diff --git a/.gitignore b/.gitignore index a4360ec..d59099e 100644 --- a/.gitignore +++ b/.gitignore @@ -13,8 +13,18 @@ __pycache__/ # OMIM data sources mim2gene.txt +mim2gene.tsv mimTitles.txt +mimTitles.tsv genemap2.txt +genemap2.tsv morbidmap.txt +morbidmap.tsv phenotypicSeries.txt +phenotypicSeries.tsv allelicVariants.txt +allelicVariants.tsv + +# SSSOM command outputs +omim.sssom.log.txt +omim.sssom.log_unique-messages.txt diff --git a/Pipfile b/Pipfile index 63c04cc..6d7f5af 100644 --- a/Pipfile +++ b/Pipfile @@ -13,6 +13,7 @@ pandas = "*" pyyaml = "*" requests = "*" python-dotenv = "*" +sssom = "*" [requires] python_version = "3.8" diff --git a/data/dipper/curie_map.yaml b/data/dipper/curie_map.yaml index 025ac27..67c5fe3 100644 --- a/data/dipper/curie_map.yaml +++ b/data/dipper/curie_map.yaml @@ -76,7 +76,7 @@ 'OMIA': 'https://omia.org/OMIA' # Online Mendelian Inheritance in Animals (disease/species) # LIDIA seems retired. so these are not resovable # Also: http://www.vetsci.usyd.edu.au/lida/ 'LIDA': 'http://sydney.edu.au/vetscience/lida/dogs/search/disorder/' # Listing of Inherited Disorders in Animals (defunct?) -'OMIM': 'http://omim.org/entry/' # Online Mendelian Inheritance in Man (human disease and variants) +'OMIM': 'https://omim.org/entry/' # Online Mendelian Inheritance in Man (human disease and variants) 'OMIMPS': 'http://www.omim.org/phenotypicSeries/PS' # Online Mendelian Inheritance in Man (phenotypes) 'ORPHA': 'http://www.orpha.net/ORDO/Orphanet_' # Rare diseases and Orphan drugs 'PATO': 'http://purl.obolibrary.org/obo/PATO_' # Phenotypic Quality Ontology diff --git a/data/genemap2.tsv b/data/genemap2.tsv deleted file mode 100644 index c6b9e81..0000000 --- a/data/genemap2.tsv +++ /dev/null @@ -1,17748 +0,0 @@ -Chromosome Genomic Position Start Genomic Position End Cyto Location Computed Cyto Location MIM Number Gene Symbols Gene Name Approved Gene Symbol Entrez Gene ID Ensembl Gene ID Comments Phenotypes Mouse Gene Symbol/ID -chr1 0 123400000 1p 606788 ANON1 Anorexia nervosa, susceptibility to, 1 171514 {Anorexia nervosa, susceptibility to, 1}, 606788 (2) -chr1 0 2300000 1p36.33 618815 C1DUPp36.33, DUP1p36.33 Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster, 618815 (4), Autosomal dominant -chr1 0 20100000 1pter-p36.13 115665 CTRCT8, CCV Cataract, congenital, Volkmann type 7792 linked to Rh in Scottish family Cataract 8, multiple types, 115665 (2), Autosomal dominant -chr1 0 27600000 1pter-p36 131190 ERPL1, HLM2 Endogenous retroviral pol gene-like sequence 1 (oncogene HLM2) -chr1 0 123400000 1p 605606 PSORS7 Psoriasis susceptibility 7 65245 {Psoriasis susceptibility 7}, 605606 (2) -chr1 0 94300000 1pter-p22.1 154280 SAI1, MTS1, TFS1 Suppression of anchorage independence-1 (malignant transformation suppression-1) 6298 -chr1 923922 944573 1p36.33 1p36.33 616765 SAMD11, MRS Sterile alpha motif domain-containing protein 11 SAMD11 148398 ENSG00000187634 Samd11 (MGI:2446220) -chr1 944202 959255 1p36.33 1p36.33 610770 NOC2L, NIR NOC2-like nucleolar-associated transcriptional repressor NOC2L 26155 ENSG00000188976 Noc2l (MGI:1931051) -chr1 960102 965718 1p36.33 1p36.33 619262 KLHL17, AF Kelch-like 17 KLHL17 339451 ENSG00000187961 Klhl17 (MGI:2678948) -chr1 975197 982092 1p36.33 1p36.33 615921 PERM1, C1orf170 PPARGC1-and ESRR-induced regulator, muscle, 1 PERM1 84808 ENSG00000187642 Perm1 (MGI:1921433) -chr1 998961 1001051 1p36.31 1p36.33 608060 HES4 Hes family bHLH transcription factor 4 HES4 57801 ENSG00000188290 -chr1 1013496 1014539 1p36.33 1p36.33 147571 ISG15, G1P2, IFI15, IMD38 ISG15 ubiquitin-like modifier ISG15 9636 ENSG00000187608 Immunodeficiency 38, 616126 (3), Autosomal recessive Isg15 (MGI:1855694) -chr1 1020101 1056118 1pter-p32 1p36.33 103320 AGRN, CMS8 Agrin AGRN 375790 ENSG00000188157 Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive Agrn (MGI:87961) -chr1 1167103 1167197 1p36.33 1p36.33 612091 MIR200B, MIRN200B Micro RNA 200B MIR200B 406984 ENSG00000207730 Mir200b (MGI:2676875) -chr1 1167862 1167951 1p36.33 1p36.33 612090 MIR200A, MIRN200A Micro RNA 200A MIR200A 406983 ENSG00000207607 Mir200a (MGI:2676874) -chr1 1169004 1169086 1p36.33 1p36.33 612094 MIR429, MIRN429 Micro RNA 429 MIR429 554210 ENSG00000198976 Mir429 (MGI:3619402) -chr1 1203507 1207900 1p36.3 1p36.33 603905 TNFRSF18, AITR, GITR Tumor necrosis factor receptor superfamily, member 18 TNFRSF18 8784 ENSG00000186891 Tnfrsf18 (MGI:894675) -chr1 1211325 1216811 1p36 1p36.33 600315 TNFRSF4, TXGP1L, OX40, ACT35, IMD16 Tumor necrosis factor receptor superfamily, member 4 TNFRSF4 7293 ENSG00000186827 mutation identified in 1 IMD16 family ?Immunodeficiency 16, 615593 (3), Autosomal recessive Tnfrsf4 (MGI:104512) -chr1 1216907 1232004 1p36.33 1p36.33 614282 SDF4, CAB45 Stromal cell-derived factor 4 SDF4 51150 ENSG00000078808 Sdf4 (MGI:108079) -chr1 1232236 1235040 1p36.3 1p36.33 615291 B3GALT6, SEMDJL1, EDSSPD2, ALGAZ UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6 B3GALT6 126792 ENSG00000176022 Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive; Al-Gazali syndrome, 609465 (3), Autosomal recessive B3galt6 (MGI:2152819) -chr1 1242447 1247217 1p36.33 1p36.33 616593 FAM132A, C1QDC2, C1QTNF12 Family with sequence similarity 132, member A C1QTNF12 388581 ENSG00000184163 C1qtnf12 (MGI:1914639) -chr1 1280435 1292024 1p36.3-p36.2 1p36.33 601328 SCNN1D Sodium channel epithelial 1, subunit delta SCNN1D 6339 ENSG00000162572 -chr1 1311596 1324659 1p36.33 1p36.33 611354 CPSF3L, INTS11, RC68 Cleavage and polyadenylation-specific factor 3-like INTS11 54973 ENSG00000127054 Ints11 (MGI:1919207) -chr1 1324756 1328895 1p36.33 1p36.33 615467 GLTPD1, CPTP Glycolipid transfer protein domain-containing protein 1 CPTP 80772 ENSG00000224051 Cptp (MGI:1933107) -chr1 1331279 1335319 1p36.33 1p36.33 605865 TAS1R3, T1R3 Taste receptor type 1, member 3 TAS1R3 83756 ENSG00000169962 Tas1r3 (MGI:1933547) -chr1 1335277 1349417 1p36 1p36.33 601365 DVL1, DRS2 Dishevelled segment polarity protein 1 DVL1 1855 ENSG00000107404 Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant Dvl1 (MGI:94941) -chr1 1352688 1363540 1p36.33 1p36.33 617293 MXRA8, ASP3 Matrix remodeling-associated protein 8 MXRA8 54587 ENSG00000162576 Mxra8 (MGI:1922011) -chr1 1373729 1375515 1p36.3 1p36.33 609183 AURKAIP1, AKIP, AIP Aurora kinase A-interacting protein 1 AURKAIP1 54998 ENSG00000175756 Aurkaip1 (MGI:1913327) -chr1 1385710 1399335 1p36.33 1p36.33 613482 CCNL2 Cyclin L2 CCNL2 81669 ENSG00000221978 Ccnl2 (MGI:1927119) -chr1 1401908 1407292 1p36.3-p35.2 1p36.33 611833 MRPL20 Mitochondrial ribosomal protein L20 MRPL20 55052 ENSG00000242485 Mrpl20 (MGI:2137221) -chr1 1435689 1442881 1p36.3 1p36.33 611901 VWA1, WARP, HMNMYO von Willebrand factor A domain-containing protein 1 VWA1 64856 ENSG00000179403 Neuropathy, hereditary motor, with myopathic features, 619216 (3), Autosomal recessive Vwa1 (MGI:2179729) -chr1 1449688 1470162 1p36.33 1p36.33 617227 ATAD3C ATPase family, AAA domain-containing, member 3C ATAD3C 219293 ENSG00000215915 Atad3a (MGI:1919214) -chr1 1471731 1509465 1p36.33 1p36.33 612317 ATAD3B, TOB3, KIAA1273 ATPase family, AAA domain-containing, member 3B ATAD3B 83858 ENSG00000160072 Atad3a (MGI:1919214) -chr1 1512142 1534685 1p36.33 1p36.33 612316 ATAD3A, HAYOS, PHRINL ATPase family, AAA domain-containing, member 3A ATAD3A 55210 ENSG00000197785 Harel-Yoon syndrome, 617183 (3), Autosomal dominant, Autosomal recessive; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive Atad3a (MGI:1919214) -chr1 1534777 1540623 1p36.33 1p36.33 616101 TMEM240, C1orf70, SCA21 Transmembrane protein 240 TMEM240 339453 ENSG00000205090 Spinocerebellar ataxia 21, 607454 (3), Autosomal dominant Tmem240 (MGI:3648074) -chr1 1541672 1574862 1p36.33 1p36.33 617680 SSU72 Ssu72, S. cerevisiae, homolof of SSU72 29101 ENSG00000160075 Ssu72 (MGI:1916241) -chr1 1613729 1630604 1p36.32 1p36.33 611141 MIB2 Mindbomb E3 ubiquitin protein ligase 2 MIB2 142678 ENSG00000197530 Mib2 (MGI:2679684) -chr1 1631680 1635637 1p36.3 1p36.33 603321 MMP23B, MMP22 Matrix metalloproteinase 23B MMP23B 8510 ENSG00000189409 Mmp23 (MGI:1347361) -chr1 1635224 1659618 1p36.3 1p36.33 176873 CDK11B, CDC2L1, P58, CDK11 Cyclin-dependent kinase 11B CDK11B 984 ENSG00000248333 Cdk11b (MGI:88353) -chr1 1659797 1692794 1p36.33 1p36.33 619315 SLC35E2B, KIAA0447 Solute carrier family 35, member E2B SLC35E2B 728661 ENSG00000189339 Slc35e2 (MGI:2444240) -chr1 1699938 1701807 1p36.3 1p36.33 603320 MMP23A, MMP21, MIFR Matrix metalloproteinase 23A MMP23A 8511 ENSG00000215914 -chr1 1702378 1724356 1p36.3 1p36.33 116951 CDK11A, CDC2L2 Cyclin-dependent kinase 11A CDK11A 728642 ENSG00000008128 Cdk11b (MGI:88353) -chr1 1751231 1780508 1p36.33-p36.21 1p36.33 611616 NADK NAD kinase NADK 65220 ENSG00000008130 Nadk (MGI:2183149) -chr1 1785285 1891086 1pter-p31.2 1p36.33 139380 GNB1, MRD42, MDS Guanine nucleotide-binding protein, beta polypeptide-1 GNB1 2782 ENSG00000078369 Myelodysplastic syndrome, somatic, 614286 (3); Leukemia, acute lymphoblastic, somatic, 613065 (3); Mental retardation, autosomal dominant 42, 616973 (3), Autosomal dominant Gnb1 (MGI:95781) -chr1 1913750 1917295 1p36.33 1p36.33 610171 CALML6, CAGLP Calmodulin-like 6 CALML6 163688 ENSG00000169885 -chr1 2019344 2030757 1p36.3 1p36.33 137163 GABRD, GEFSP5, EIG10, EJM7 Gamma-aminobutyric acid (GABA) A receptor, delta GABRD 2563 ENSG00000187730 {Epilepsy, idiopathic generalized, 10}, 613060 (3), Autosomal dominant; {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3), Autosomal dominant Gabrd (MGI:95622) -chr1 2050410 2185394 1p36 1p36.33 176982 PRKCZ, PKC2 Protein kinase C, zeta form PRKCZ 5590 ENSG00000067606 Prkcz (MGI:97602) -chr1 2184456 2212719 1p36.33 1p36.33 615183 C1orf86, FAAP20 Chromosome 1 open reading frame 86 FAAP20 199990 ENSG00000162585 Faap20 (MGI:1914763) -chr1 2228318 2310212 1p36.3 1p36.33-p36.32 164780 SKI, SGS SKI proto-oncogene SKI 6497 ENSG00000157933 formerly mapped to 1q22-q24 Shprintzen-Goldberg syndrome, 182212 (3), Autosomal dominant Ski (MGI:98310) -chr1 2300000 20100000 1p36.32-p36.13 607671 DYT13 Dystonia 13, torsion 93983 Dystonia 13, torsion, 607671 (2), Autosomal dominant -chr1 2300000 29900000 1p36.32-p35.3 606242 KONDS Kondoh syndrome (mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism) 100653373 linked to rs966321 and rs1441834 Kondoh syndrome, 606242 (2), Autosomal recessive -chr1 2403973 2413826 1p36.32 1p36.32 602859 PEX10, NALD, PBD6A, PBD6B Peroxisome biogenesis factor 10 PEX10 5192 ENSG00000157911 Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3), Autosomal recessive; Peroxisome biogenesis disorder 6B, 614871 (3), Autosomal recessive Pex10 (MGI:2684988) -chr1 2412480 2505531 1p36.32 1p36.32 612836 PLCH2, PLCL4 Phospholipase C, eta-2 PLCH2 9651 ENSG00000149527 Plch2 (MGI:2443078) -chr1 2508536 2526621 1p36 1p36.32 606162 PANK4 Pantothenate kinase 4 PANK4 55229 ENSG00000157881 Pank4 (MGI:2387466) -chr1 2528744 2530553 1p36.31 1p36.32 607348 HES5 Hes family bHLH transcription factor 5 HES5 388585 ENSG00000197921 Hes5 (MGI:104876) -chr1 2556370 2563828 1p36.3-p36.2 1p36.32 602746 TNFRSF14, HVEM, TR2 Tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) TNFRSF14 8764 ENSG00000157873 Tnfrsf14 (MGI:2675303) -chr1 2590638 2633041 1p36.32 1p36.32 618104 MMEL1, NEPII, NEP2, NL1, SEP Membrane metalloendopeptidase-like 1 MMEL1 79258 ENSG00000142606 Mmel1 (MGI:1351603) -chr1 3021466 3022902 1p36.32 1p36.32 608535 ACTRT2, ARPT2, ARPM2 Actin-related protein T2 ACTRT2 140625 ENSG00000169717 Actrt2 (MGI:1920603) -chr1 3069202 3438620 1p36.3 1p36.32 605557 PRDM16, MEL1, LVNC8, CMD1LL PR domain-containing protein 16 PRDM16 63976 ENSG00000142611 Left ventricular noncompaction 8, 615373 (3), Autosomal dominant; Cardiomyopathy, dilated, 1LL, 615373 (3), Autosomal dominant Prdm16 (MGI:1917923) -chr1 3454588 3481114 1p36.32 1p36.32 618871 ARHGEF16 RHO guanine nucleotide exchange factor 16 ARHGEF16 27237 ENSG00000130762 Arhgef16 (MGI:2446219) -chr1 3487950 3624769 1p36.3 1p36.32 604266 MEGF6, EGFL3 Multiple epidermal growth factor-like domains 6 MEGF6 1953 ENSG00000162591 Megf6 (MGI:1919351) -chr1 3560694 3560789 1p36.32 1p36.32 615148 MIR551A Micro RNA 551A MIR551A 693135 ENSG00000207776 -chr1 3625014 3630126 1p36.32 1p36.32 611460 TPRG1L, FAM79A Tumor protein p63 regulated 1-like TPRG1L 127262 ENSG00000158109 Tprgl (MGI:1915058) -chr1 3630766 3650102 1p36.3 1p36.32 606040 WDR8 WD repeat-containing protein 8 WRAP73 49856 ENSG00000116213 Wrap73 (MGI:1891749) -chr1 3652515 3736200 1p36 1p36.32 601990 TP73, CILD47 p53-related protein TP73 7161 ENSG00000078900 imprinted Ciliary dyskinesia, primary, 47, and lissencephaly, 619466 (3), Autosomal recessive Trp73 (MGI:1336991) -chr1 3772748 3775955 1p36 1p36.32 615242 SMIM1, VEL Small integral membrane protein 1 SMIM1 388588 ENSG00000235169 [Blood group, Vel system], 615264 (3), Autosomal recessive Smim1 (MGI:1916109) -chr1 3778558 3796497 1p36.32 1p36.32 619154 LRRC47, KIAA1185 Leucine-rich repeat-containing protein 47 LRRC47 57470 ENSG00000130764 Lrrc47 (MGI:1920196) -chr1 3812085 3857232 1p36.32 1p36.32 616690 CEP104, GLYBP, KIAA0562, JBTS25 Centrosomal protein, 104kD CEP104 9731 ENSG00000116198 Joubert syndrome 25, 616781 (3), Autosomal recessive Cep104 (MGI:2687282) -chr1 3857285 3885428 1p36.3 1p36.32 601883 DFFB, CAD, DFF2 DNA fragmentation factor, 40kD, beta subunit DFFB 1677 ENSG00000169598 Dffb (MGI:1196287) -chr1 4654608 4792533 1p36.32 1p36.32 610972 AJAP1, SHREW1 Adherens junction-associated protein 1 AJAP1 55966 ENSG00000196581 Ajap1 (MGI:2685419) -chr1 5300000 20100000 1p36.31-p36.13 614414 DFNB96 Deafness, autosomal recessive 96 100861440 between rs3817914 and rs477558 Deafness, autosomal recessive 96, 614414 (2), Autosomal recessive -chr1 5300000 7100000 1p36.3 604008 PTPRZ2 Protein-tyrosine phosphatase, receptor-type, zeta-2 PTPRZ2 5804 -chr1 5862809 5992424 1p36 1p36.31 607215 NPHP4, SLSN4 Nephrocystin 4 NPHP4 261734 ENSG00000131697 Senior-Loken syndrome 4, 606996 (3), Autosomal recessive; Nephronophthisis 4, 606966 (3), Autosomal recessive Nphp4 (MGI:2384210) -chr1 5992638 6101185 1p36.3 1p36.31 601142 KCNAB2, KCNA2B Potassium voltage-gated channel, shaker-related subfamily, beta member 2 KCNAB2 8514 ENSG00000069424 Kcnab2 (MGI:109239) -chr1 6101786 6180320 1p36 1p36.31 610771 CHD5 Chromodomain helicase DNA-binding protein 5 CHD5 26038 ENSG00000116254 Chd5 (MGI:3036258) -chr1 6185019 6199594 1p36.31 1p36.31 180474 RPL22, EAP Ribosomal protein L22 RPL22 6146 ENSG00000116251 fused with AML1 in t(3;21) Rpl22 (MGI:99262) -chr1 6206003 6221298 1p36.31 1p36.31 616923 RNF207, C1orf188 RING finger protein 207 RNF207 388591 ENSG00000158286 Rnf207 (MGI:2684989) -chr1 6221192 6235963 1p36 1p36.31 605851 ICMT Isoprenylcysteine carboxylmethyltransferase ICMT 23463 ENSG00000116237 Icmt (MGI:1888594) -chr1 6244178 6245577 1p36.31 1p36.31 609971 HES3 Hes family bHLH transcription factor 3 HES3 390992 ENSG00000173673 Hes3 (MGI:104877) -chr1 6247352 6261097 1p36.31 1p36.31 614269 GPR153 G protein-coupled receptor 153 GPR153 387509 ENSG00000158292 Gpr153 (MGI:1916157) -chr1 6264271 6393766 1p36 1p36.31 602587 ACOT7, BACH, LACH Acyl-CoA thioesterase 7 ACOT7 11332 ENSG00000097021 Acot7 (MGI:1917275) -chr1 6415231 6419918 1p36.31 1p36.31 609970 HES2 Hes family bHLH transcription factor 2 HES2 54626 ENSG00000069812 Hes2 (MGI:1098624) -chr1 6424775 6461366 1p36.3-p36.1 1p36.31 606351 ESPN, USH1M Espin ESPN 83715 ENSG00000187017 mutation identified in 1 USH1M family Deafness, neurosensory, without vestibular involvement, autosomal dominant, 609006 (3), Autosomal recessive; Deafness, autosomal recessive 36, 609006 (3), Autosomal recessive; ?Usher syndrome, type 1M, 618632 (3), Autosomal recessive Espn (MGI:1861630) -chr1 6460785 6466172 1p36.3 1p36.31 603366 TNFRSF25, TNFRSF12, DR3, LARD Tumor necrosis factor receptor superfamily, member 25 TNFRSF25 8718 ENSG00000215788 Tnfrsf25 (MGI:1934667) -chr1 6466091 6520091 1p36 1p36.31 611101 PLEKHG5, KIAA0720, DSMA4, CMTRIC Pleckstrin homology domain- and RhoGEF domain-containing protein G5 PLEKHG5 57449 ENSG00000171680 Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3), Autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3), Autosomal recessive Plekhg5 (MGI:2652860) -chr1 6555306 6579754 1p36 1p36.31 606225 TAS1R1, T1R1 Taste receptor type 1, member 1 TAS1R1 80835 ENSG00000173662 Tas1r1 (MGI:1927505) -chr1 6579993 6589279 1p36.3 1p36.31 165270 ZBTB48, HKR3 Zinc finger- and BTB domain-containing protein 48 ZBTB48 3104 ENSG00000204859 Zbtb48 (MGI:2140248) -chr1 6590723 6602868 1p36.31 1p36.31 616262 KLHL21, KIAA0469 Kelch-like 21 KLHL21 9903 ENSG00000162413 Klhl21 (MGI:1919288) -chr1 6624615 6635594 1p36.31 1p36.31 612532 THAP3 THAP domain-containing protein 3 THAP3 90326 ENSG00000041988 Thap3 (MGI:1917126) -chr1 6634167 6701832 1p36.31-p36.23 1p36.31 614827 DNAJC11 DNAJ/HSP40 homolog, subfamily C, member 11 DNAJC11 55735 ENSG00000007923 Dnajc11 (MGI:2443386) -chr1 6785451 7769705 1p36 1p36.31-p36.23 611501 CAMTA1, KIAA0833, CANPMR Calmodulin-binding transcription activator 1 CAMTA1 23261 ENSG00000171735 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3), Autosomal dominant Camta1 (MGI:2140230) -chr1 7771274 7781431 1p36 1p36.23 603657 VAMP3 Vesicle-associated membrane protein 3 VAMP3 9341 ENSG00000049245 Vamp3 (MGI:1321389) -chr1 7784284 7845180 1p36.33-p36.21 1p36.23 603427 PER3, FASPS3 Period circadian regulator 3 PER3 8863 ENSG00000049246 mutation identified in 1 FASPS3 family ?Advanced sleep phase syndrome, familial, 3, 616882 (3), Autosomal dominant Per3 (MGI:1277134) -chr1 7846344 7913614 1p36.23 1p36.23 604097 UTS2 Urotensin II UTS2 10911 ENSG00000049247 Uts2 (MGI:1346329) -chr1 7915870 7941606 1p36 1p36.23 602250 TNFRSF9, ILA, CD137 Tumor necrosis factor receptor superfamily, member 9 (interleukin-activated receptor; Ly63, mouse, homolog of) TNFRSF9 3604 ENSG00000049249 Tnfrsf9 (MGI:1101059) -chr1 7961710 7985504 1p36 1p36.23 602533 DJ1, PARK7 Oncogene DJ-1 PARK7 11315 ENSG00000116288 Parkinson disease 7, autosomal recessive early-onset, 606324 (3), Autosomal recessive Park7 (MGI:2135637) -chr1 8011724 8026308 1p36 1p36.23 608069 MIG6, RALT Mitogen-inducible gene 6 ERRFI1 54206 ENSG00000116285 Errfi1 (MGI:1921405) -chr1 8318113 8344166 1p36.2-p36.1 1p36.23 605763 SLC45A1, DNB5, IDDNPF Solute carrier family 45, member 1 SLC45A1 50651 ENSG00000162426 Intellectual developmental disorder with neuropsychiatric features, 617532 (3), Autosomal recessive Slc45a1 (MGI:2653235) -chr1 8352403 8817639 1p36.2-p36.1 1p36.23 605226 RERE, NEDBEH Arginine-glutamic acid dipeptide repeats RERE 473 ENSG00000142599 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3), Autosomal dominant Rere (MGI:2683486) -chr1 8860999 8878685 1pter-p36.13 1p36.23 172430 ENO1, PPH, MPB1 Enolase-1, alpha ENO1 2023 ENSG00000074800 Eno1b,Eno1 (MGI:95393,MGI:3648653) -chr1 8945867 8975091 1p36.33-p36.22 1p36.23 114780 CA6 Carbonic anhydrase VI CA6 765 ENSG00000131686 Car6 (MGI:1333786) -chr1 8992533 9026422 1p36.2 1p36.23 610371 SLC2A7, GLUT7 Solute carrier family 2 (facilitated glucose transporter), member 7 SLC2A7 155184 ENSG00000197241 Slc2a7 (MGI:3650865) -chr1 9035105 9072258 1p36.2 1p36.23 138230 SLC2A5, GLUT5 Solute carrier family 2 (facilitated glucose transporter), member 5 SLC2A5 6518 ENSG00000142583 Slc2a5 (MGI:1928369) -chr1 9151667 9151776 1p36 1p36.22 611172 MIR34A, MIRN34A Micro RNA 34A MIR34A 407040 ENSG00000284357 Mir34a (MGI:3619363) -chr1 9234766 9271336 1p36 1p36.22 138090 H6PD, GDH, G6PDH, CORTRD1 Hexose-6-phosphate dehydrogenase H6PD 9563 ENSG00000049239 digenic triallelic mutations with HSD11B1 Cortisone reductase deficiency 1, 604931 (3), Autosomal recessive H6pd (MGI:2140356) -chr1 9292893 9369531 1p36.22 1p36.22 611657 SPSB, SSB1 SPRY domain- and SOCS box-containing 1 SPSB1 80176 ENSG00000171621 Spsb1 (MGI:1921896) -chr1 9539464 9585172 1p36.22 1p36.22 610816 SLC25A33 Solute carrier family 25 (mitochondrial carrier), member 33 SLC25A33 84275 ENSG00000171612 Slc25a33 (MGI:1917806) -chr1 9629888 9729113 1p36.2 1p36.22 602839 PIK3CD, APDS, IMD14A, IMD14B, ROCHIS Phosphatidylinositol 3-kinase, catalytic, 110kD, delta PIK3CD 5293 ENSG00000171608 mutation identified in 1 ROCHIS family Immunodeficiency 14A, autosomal dominant, 615513 (3), Autosomal dominant; Immunodeficiency 14B, autosomal recessive, 619281 (3), Autosomal recessive; ?Roifman-Chitayat syndrome, digenic, 613328 (3), Digenic recessive Pik3cd (MGI:1098211) -chr1 9728925 9824525 1p36 1p36.22 611321 CLSTN1, KIAA0911 Calsyntenin 1 CLSTN1 22883 ENSG00000171603 Clstn1 (MGI:1929895) -chr1 9848275 9910321 1p36.22 1p36.22 607758 CTNNBIP1, ICAT Catenin, beta-interacting protein 1 CTNNBIP1 56998 ENSG00000178585 Ctnnbip1 (MGI:1915756) -chr1 9922117 9943401 1p36.22 1p36.22 610458 LZIC Leucine zipper and CTNNBIP1 domains-containing protein LZIC 84328 ENSG00000162441 Lzic (MGI:1916401) -chr1 9942922 9996883 1p36.22 1p36.22 608700 NMNAT1, NMNAT, PNAT1, LCA9, SHILCA Nicotinamide nucleotide adenylyltransferase 1 NMNAT1 64802 ENSG00000173614 Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis, 619260 (3), Autosomal recessive; Leber congenital amaurosis 9, 608553 (3), Autosomal recessive Nmnat1 (MGI:1913704) -chr1 10032957 10181238 1p36.3 1p36.22 613565 UBE4B, UFD2A, KIAA0684 Ubiquitination factor E4B UBE4B 10277 ENSG00000130939 Ube4b (MGI:1927086) -chr1 10210569 10381602 1p36.2 1p36.22 605995 KIF1B, CMT2A, CMT2A1, NBLST1 Kinesin family member 1B KIF1B 23095 ENSG00000054523 Pheochromocytoma, 171300 (3), Autosomal dominant; {Neuroblastoma, susceptibility to, 1}, 256700 (3), Somatic mutation, Autosomal dominant; Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant Kif1b (MGI:108426) -chr1 10399063 10420510 1p36.2-p36.13 1p36.22 172200 PGD 6-phosphogluconate dehydrogenase PGD 5226 ENSG00000142657 Pgd (MGI:97553) -chr1 10430432 10442807 1p36.22 1p36.22 609130 CENPS, APITD1, MHF1 Centromeric protein S CENPS 378708 ENSG00000175279 Cenps (MGI:1917178) -chr1 10450030 10451997 1p36 1p36.22 602784 CORT Cortistatin CORT 1325 ENSG00000241563 Cort (MGI:109538) -chr1 10456521 10472528 1p36.3-p36.2 1p36.22 601882 DFFA, DFF1 DNA fragmentation factor, 45kD, alpha subunit DFFA 1676 ENSG00000160049 Dffa (MGI:1196227) -chr1 10474945 10630757 1p36.2 1p36.22 601791 PEX14, PBD13A Peroxisome biogenesis factor 14 PEX14 5195 ENSG00000142655 Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive Pex14 (MGI:1927868) -chr1 10636603 10796649 1p36.22 1p36.22 609895 CASZ1, SRG Castor zinc finger protein 1 CASZ1 54897 ENSG00000130940 Casz1 (MGI:1196251) -chr1 11012653 11030527 1p36.2 1p36.22 605078 TARDBP, TDP43, ALS10 TAR DNA-binding protein TARDBP 23435 ENSG00000120948 pseudogenes on 2, 6, 8, 13, 20 Frontotemporal lobar degeneration, TARDBP-related, 612069 (3), Autosomal dominant; Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3), Autosomal dominant Tardbp (MGI:2387629) -chr1 11026522 11047238 1p36.3-p36.2 1p36.22 605102 MASP2 Mannan-binding lectin serine protease 2 MASP2 10747 ENSG00000009724 MASP2 deficiency, 613791 (3), Autosomal recessive Masp2 (MGI:1330832) -chr1 11054588 11060052 1p36-p22 1p36.22 182891 SRM, SPS1 Spermidine synthase-1 SRM 6723 ENSG00000116649 ?pseudogene on 3p14-q21 Srm (MGI:102690) -chr1 11066612 11099868 1p36.22 1p36.22 605960 EXOSC10, PMSCL2 Exosome component 10 EXOSC10 5394 ENSG00000171824 Exosc10 (MGI:1355322) -chr1 11106534 11273496 1p36.2 1p36.22 601231 MTOR, FRAP1, SKS Mechanistic target of rapamycin MTOR 2475 ENSG00000198793 Focal cortical dysplasia, type II, somatic, 607341 (3); Smith-Kingsmore syndrome, 616638 (3), Autosomal dominant Mtor (MGI:1928394) -chr1 11189323 11195980 1p36.22 1p36.22 618517 ANGPTL7, CDT6 Angiopoietin-like 7 ANGPTL7 10218 ENSG00000171819 Angptl7 (MGI:3605801) -chr1 11273197 11299573 1p36.3 1p36.22 611632 UBIAD1, TERE1, SCCD UbiA prenyltransferase domain-containing protein 1 UBIAD1 29914 ENSG00000120942 Corneal dystrophy, Schnyder type, 121800 (3), Autosomal dominant Ubiad1 (MGI:1918957) -chr1 11479154 11537582 1p36.22 1p36.22 611251 DISP3, PTCHD2, KIAA1337 Dispatched RND transporter family, member 3 DISP3 57540 ENSG00000204624 Disp3 (MGI:2444403) -chr1 11648386 11654428 1p36 1p36.22 607112 FBXO2, FBX2, FBG1, NFB42 F-box protein 2 FBXO2 26232 ENSG00000116661 Fbxo2 (MGI:2446216) -chr1 11654374 11663326 1p36.21 1p36.22 609111 FBXO44, FBX44, FBX6A, FBG3 F-box protein 44 FBXO44 93611 ENSG00000132879 Fbxo44 (MGI:1354744) -chr1 11664199 11674353 1p36.23 1p36.22 605647 FBXO6, FBX6, FBG2 F-box protein 6 FBXO6 26270 ENSG00000116663 Fbxo6 (MGI:1354743) -chr1 11674479 11691558 1p36 1p36.22 604094 MAD2L2, MAD2B, FANCV Mitotic arrest-deficient 2 like 2 MAD2L2 10459 ENSG00000116670 mutation identified in 1 FANCV patient; pseudogene on 14q21-q23 ?Fanconi anemia, complementation group V, 617243 (3), Autosomal recessive Mad2l2 (MGI:1919140) -chr1 11686634 11725856 1p36.22 1p36.22 612682 DRAXIN, C1orf187 Dorsal inhibitory axon guidance protein DRAXIN 374946 ENSG00000162490 Draxin (MGI:1917683) -chr1 11736120 11750770 1p36.22 1p36.22 608729 AGTRAP Angiotensin II receptor-associated protein AGTRAP 57085 ENSG00000177674 Agtrap (MGI:1339977) -chr1 11785722 11806102 1p36.3 1p36.22 607093 MTHFR Methylenetetrahydrofolate reductase MTHFR 4524 ENSG00000177000 {Vascular disease, susceptibility to} (3); Homocystinuria due to MTHFR deficiency, 236250 (3), Autosomal recessive; {Thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Neural tube defects, susceptibility to}, 601634 (3), Autosomal recessive Mthfr (MGI:106639) -chr1 11806190 11843129 1p36 1p36.22 602726 CLCN6, CONRIBA Chloride channel 6 CLCN6 1185 ENSG00000011021 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, 619173 (3), Autosomal dominant Clcn6 (MGI:1347049) -chr1 11845708 11847782 1p36.2 1p36.22 108780 NPPA, PND, ANP, ATFB6, ATRST2 Natriuretic peptide precursor A NPPA 4878 ENSG00000175206 Atrial standstill 2, 615745 (3), Autosomal recessive; Atrial fibrillation, familial, 6, 612201 (3), Autosomal dominant Nppa (MGI:97367) -chr1 11857463 11858944 1p36.2 1p36.22 600295 NPPB, BNP Natriuretic peptide precursor B NPPB 4879 ENSG00000120937 Nppb (MGI:97368) -chr1 11934716 11975536 1p36.3-p36.2 1p36.22 153454 PLOD1, LH1, LLH, EDSKCL1 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) PLOD1 5351 ENSG00000083444 Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3), Autosomal recessive Plod1 (MGI:99907) -chr1 11980214 12013507 1p36.2 1p36.22 608507 MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B Mitofusin 2 MFN2 9927 ENSG00000116688 Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive; Hereditary motor and sensory neuropathy VIA, 601152 (3), Autosomal dominant Mfn2 (MGI:2442230) -chr1 12019465 12032044 1p36.22 1p36.22 608772 MIIP, IIP45 Migration and invasion inhibitory protein MIIP 60672 ENSG00000116691 Miip (MGI:106506) -chr1 12063302 12144212 1p36 1p36.22 153243 TNFRSF8, CD30, D1S166E Tumor necrosis factor receptor superfamily, member 8 (CD30 antigen; Ki-1 antigen) TNFRSF8 943 ENSG00000120949 Tnfrsf8 (MGI:99908) -chr1 12166947 12209221 1p36.3-p36.2 1p36.22 191191 TNFRSF1B, TNFR2, TNFBR Tumor necrosis factor receptor superfamily, member 1B TNFRSF1B 7133 ENSG00000028137 Tnfrsf1b (MGI:1314883) -chr1 12230029 12512046 1p36.22-p36.21 1p36.22-p36.21 608877 VPS13D, SCAR4 Vacuolar protein sorting 13 homolog D VPS13D 55187 ENSG00000048707 Spinocerebellar ataxia, autosomal recessive 4, 607317 (3), Autosomal recessive Vps13d (MGI:2448530) -chr1 12500000 15900000 1p36.21 609918 GBD2 Gallbladder disease 2 100048905 between D1S1597 and D1S47 Gallbladder disease 2, 609918 (2) -chr1 12500000 27600000 1p36.2-p36.1 600975 GLC3B Glaucoma 3, primary infantile, B 2728 Glaucoma 3, primary infantile, B, 600975 (2), Autosomal recessive -chr1 12500000 15900000 1p36.2 608543 SCZD12 Schizophrenia 12 619488 max lod at D1S1612 {Schizophrenia 12}, 181500 (2), Autosomal dominant -chr1 12567909 12618209 1p36.1 1p36.21 612830 DHRS3, RETSDR1 Short-chain dehydrogenase/reductase family, member 3 DHRS3 9249 ENSG00000162496 Dhrs3 (MGI:1315215) -chr1 13474972 13514002 1p36.21 1p36.21 615212 LRRC38 Leucine-rich repeat-containing protein 38 LRRC38 126755 ENSG00000162494 Lrrc38 (MGI:2442845) -chr1 13583756 13617956 1p36.21 1p36.21 608863 PDPN, TI1A, T1A2, GP36, OTS8, AGGRUS Podoplanin PDPN 10630 ENSG00000162493 Pdpn (MGI:103098) -chr1 13698873 13825078 1p36 1p36.21 601196 PRDM2, RIZ PR domain-containing protein 2 (retinoblastoma protein-binding zinc-finger protein RIZ) PRDM2 7799 ENSG00000116731 Prdm2 (MGI:107628) -chr1 13893385 15118042 1p36.21 1p36.21 618301 KAZN Kazrin, periplakin-interacting protein KAZN 23254 ENSG00000189337 Kazn (MGI:1918779) -chr1 15409887 15430338 1p36.21 1p36.21 616450 EFHD2, SWS1 EF-hand domain family, member D2 EFHD2 79180 ENSG00000142634 Efhd2 (MGI:106504) -chr1 15438441 15449246 1p36.21 1p36.21 601405 CTRC, CLCR Chymotrypsin CTRC 11330 ENSG00000162438 {Pancreatitis, chronic, susceptibility to}, 167800 (3), Autosomal dominant Ctrc (MGI:1923951) -chr1 15456731 15472090 1p36.2 1p36.21 609443 CELA2A, ELA2A, AOMS4 Chymotrypsin-like elastase family, member 2A CELA2A 63036 ENSG00000142615 Abdominal obesity-metabolic syndrome 4, 618620 (3), Autosomal dominant Cela2a (MGI:95316) -chr1 15476103 15491394 1p36.2 1p36.21 609444 CELA2B, ELA2B Chymotrypsin-like elastase family, member 2B CELA2B 51032 ENSG00000215704 Cela2a (MGI:95316) -chr1 15491400 15524911 1p36.3-p36.1 1p36.21 602234 CASP9, APAF3 Caspase 9, apoptosis-related cysteine protease CASP9 842 ENSG00000132906 Casp9 (MGI:1277950) -chr1 15571698 15585050 1p36.21 1p36.21 617887 AGMAT, AUH Agmatinase AGMAT 79814 ENSG00000116771 Agmat (MGI:1923236) -chr1 15659712 15662032 1p36.1 1p36.21 601966 RSC1A1, RS1 Regulatory solute carrier protein, family 1, member 1 RSC1A1 6248 ENSG00000215695 Rsc1a1 (MGI:3526447) -chr1 15681505 15734768 1p36.21 1p36.21 609613 PLEKHM2, SKIP, KIAA0842 Pleckstrin homology domain-containing protein, family M, member 2 PLEKHM2 23207 ENSG00000116786 Plekhm2 (MGI:1916832) -chr1 15735087 15741391 1p36.21 1p36.21 610817 SLC25A34 Solute carrier family 25, member 34 SLC25A34 284723 ENSG00000162461 Slc25a34 (MGI:2686215) -chr1 15756169 15786589 1p36.13 1p36.21 607747 FBLIM1, FBLP1, MIGFILIN Filamin-binding LIM protein 1 FBLIM1 54751 ENSG00000162458 Fblim1 (MGI:1921452) -chr1 15847706 15940455 1p36.13 1p36.21-p36.13 613484 SPEN, MINT, SHARP, HIAA0929, RATARS Spen family transcriptional repressor SPEN 23013 ENSG00000065526 Radio-Tartaglia syndrome, 619312 (3), Autosomal dominant Spen (MGI:1891706) -chr1 15900000 39600000 1p36.13-p34.3 609122 ANIB3 Aneurysm, intracranial berry, 3 497657 Aneurysm, intracranial berry, 3, 609122 (2), Autosomal dominant -chr1 15900000 39600000 1p36.13-p34.3 616055 EA8 Episodic ataxia, type 8 104326187 between rs2743201 and rs215791 Episodic ataxia, type 8, 616055 (2), Autosomal dominant -chr1 15939932 15976131 1p36.2-p36.1 1p36.13 604084 ZBTB17, ZNF151, MIZ1 Zinc finger- and BTB domain-containing protein 17 ZBTB17 7709 ENSG00000116809 Zbtb17 (MGI:107410) -chr1 16004235 16008806 1p36.13 1p36.13 619448 SRARP, ERRF, C1orf64 Steroid receptor-associated and -regulated protein SRARP 149563 ENSG00000183888 Srarp (MGI:2685540) -chr1 16014028 16019593 1p36.23-p34.3 1p36.13 610692 HSPB7, CVHSP Heat-shock 27kD protein 7 HSPB7 27129 ENSG00000173641 Hspb7 (MGI:1352494) -chr1 16022035 16034049 1p36 1p36.13 602024 CLCNKA Chloride channel, kidney, A CLCNKA 1187 ENSG00000186510 11kb from CLCNKB; simultaneous mutation in CLCNKA and CLCNKB Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive Clcnka (MGI:1329026) -chr1 16043781 16057325 1p36 1p36.13 602023 CLCNKB Chloride channel, kidney, B CLCNKB 1188 ENSG00000184908 unequal crossingover with CLCNKA Bartter syndrome, type 3, 607364 (3), Autosomal recessive; Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive Clcnkb (MGI:1930643) -chr1 16124336 16156103 1p36.1 1p36.13 176946 EPHA2, ECK, CTPP1, CTPA, ARCC2, CTRCT6 Ephrin receptor EphA2 EPHA2 1969 ENSG00000142627 Cataract 6, multiple types, 116600 (3), Autosomal dominant Epha2 (MGI:95278) -chr1 16197853 16212699 1p36.13 1p36.13 612496 ARHGEF19, WGEF RHO guanine nucleotide exchange factor 19 ARHGEF19 128272 ENSG00000142632 Arhgef19 (MGI:1925912) -chr1 16246839 16352479 1p36.23-p36.11 1p36.13 609109 FBXO42, FBX42, KIAA1332 F-box protein 42 FBXO42 54455 ENSG00000037637 Fbxo42 (MGI:1924992) -chr1 16440723 16460077 1p36.13 1p36.13 611624 NECAP2 NECAP endocytosis-associated protein 2 NECAP2 55707 ENSG00000157191 Necap2 (MGI:1913397) -chr1 16545938 16546008 1p36.13 1p36.13 189911 TRG-CCC1-1, TRNAG1, TRG1 tRNA glycine 1 (anticodon CCC) 1-1 TRG-CCC1-1 7195 -chr1 16562322 16613563 1p36.2 1p36.13 610501 NBPF1, KIAA1693 Neuroblastoma breakpoint family, member 1 NBPF1 55672 ENSG00000219481 pseudogenes on 3 and 5 -chr1 16740515 16740678 1p36.3 1p36.13 180680 RNU1A, RNU1 RNA, U1A small nuclear RNU1-4 6060 ENSG00000207389 ?same as A12M2 -chr1 16872582 16872653 1p36 1p36.13 180640 TRE-TTC3-1, TRNAE1, TRNE, TRE tRNA glutamic acid (anticodon TTC) 3-1 TRE-TTC3-1 7193 -chr1 16914081 16972978 1p36.11 1p36.13 615776 CROCC, ROOTLETIN, KIAA0445 Ciliary rootlet coiled-coil protein CROCC 9696 ENSG00000058453 Crocc (MGI:3529431) -chr1 16974501 16981582 1p36.1-p35 1p36.13 156790 MFAP2, MAGP, MAGP1 Microfibrillar-associated protein-2 MFAP2 4237 ENSG00000117122 Mfap2 (MGI:99559) -chr1 16985957 17011971 1p36 1p36.13 610513 ATP13A2, PARK9, KRPPD, SPG78 ATPase 13A2 ATP13A2 23400 ENSG00000159363 mutation identified in 1 family with CLN12 Spastic paraplegia 78, autosomal recessive, 617225 (3), Autosomal recessive; Kufor-Rakeb syndrome, 606693 (3), Autosomal recessive Atp13a2 (MGI:1922022) -chr1 17018721 17054031 1p36.1-p35 1p36.13 185470 SDHB, SDH2, SDHIP, PGL4, MC2DN4 Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) SDHB 6390 ENSG00000117118 1 of 2 polypeptides Paragangliomas 4, 115310 (3), Autosomal dominant; Mitochondrial complex II deficiency, nuclear type 4, 619224 (3), Autosomal recessive; Gastrointestinal stromal tumor, 606764 (3), Autosomal dominant, Isolated cases; Pheochromocytoma, 171300 (3), Autosomal dominant; Paraganglioma and gastric stromal sarcoma, 606864 (3) Sdhb (MGI:1914930) -chr1 17066760 17119452 1p36.13 1p36.13 607935 PADI2 Peptidylarginine deiminase, type II PADI2 11240 ENSG00000117115 Padi2 (MGI:1338892) -chr1 17205124 17246006 1p36.13 1p36.13 607934 PADI1 Peptidylarginine deiminase, type I PADI1 29943 ENSG00000142623 Padi1 (MGI:1338893) -chr1 17249078 17284232 1p36.13 1p36.13 606755 PADI3, UHS1 Peptidylarginine deiminase, type III PADI3 51702 ENSG00000142619 Uncombable hair syndrome, 191480 (3), Autosomal recessive Padi3 (MGI:1338891) -chr1 17308194 17364003 1p36.13 1p36.13 605347 PADI4, PADI5, PAD Peptidylarginine deiminase, type IV PADI4 23569 ENSG00000159339 Padi4 (MGI:1338898) -chr1 17372195 17401698 1p36.13 1p36.13 610363 PADI6, PREMBL2 Peptidylarginine deiminase, type VI PADI6 353238 ENSG00000276747 Preimplantation embryonic lethality 2, 617234 (3), Autosomal recessive Padi6 (MGI:2655198) -chr1 17406759 17439676 1p36.13 1p36.13 609587 RCC2, KIAA1470 Regulator of chromosome condensation 2 RCC2 55920 ENSG00000179051 Rcc2 (MGI:1919784) -chr1 17513441 17697874 1p36.13 1p36.13 612494 ARHGEF10L, GRINCHGEF, KIAA1626 RHO guanine nucleotide exchange factor 10-like protein ARHGEF10L 55160 ENSG00000074964 Arhgef10l (MGI:1920004) -chr1 18630845 18748865 1p36.2-p36.12 1p36.13 167410 PAX7, RMS2, MYOSCO Paired box gene 7 PAX7 5081 ENSG00000009709 fused with FKHR in rhabdomyosarcoma Rhabdomyosarcoma 2, alveolar, 268220 (3), Somatic mutation; Myopathy, congenital, progressive, with scoliosis, 618578 (3), Autosomal recessive Pax7 (MGI:97491) -chr1 18839598 18859659 1p36 1p36.13 606226 TAS1R2, T1R2 Taste receptor type 1, member 2 TAS1R2 80834 ENSG00000179002 Tas1r2 (MGI:1933546) -chr1 18871429 18902554 1p36 1p36.13 606811 ALDH4A1, ALDH4, P5CDH Aldehyde dehydrogenase 4 family, member A1 (delta-1-pyrroline 5-carboxylate dehydrogenase) ALDH4A1 8659 ENSG00000159423 Hyperprolinemia, type II, 239510 (3), Autosomal recessive Aldh4a1 (MGI:2443883) -chr1 19074507 19214331 1p36.13 1p36.13 609890 UBR4, ZUBR1, RBAF600, KIAA1307 Ubiquitin protein ligase E3 component n-recognin 4 UBR4 23352 ENSG00000127481 Ubr4 (MGI:1916366) -chr1 19215659 19251523 1p36.13 1p36.13 616846 EMC1, KIAA0090, CAVIPMR Endoplasmic reticulum membrane protein complex, subunit 1 EMC1 23065 ENSG00000127463 Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3), Autosomal recessive Emc1 (MGI:2443696) -chr1 19265981 19274121 1p36.13 1p36.13 608478 AKR7A4, AFAR3 Aldo-keto reductase family 7, member A4 AKR7L 246181 ENSG00000211454 Akr7a5 (MGI:107796) -chr1 19274228 19289361 1p36.13 1p36.13 608477 AKR7A3, AFAR2 Aldo-keto reductase family 7, member A3 AKR7A3 22977 ENSG00000162482 Akr7a5 (MGI:107796) -chr1 19302707 19312145 1p36.13 1p36.13 603418 AKR7A2, AKR7, AFAR Aldo-keto reductase family 7, member A2 AKR7A2 8574 ENSG00000053371 pseudogenes on Xq25 and 1p12 Akr7a5 (MGI:107796) -chr1 19312301 19332610 1p36.13 1p36.13 614760 PQLC2 PQ loop repeat-containing protein 2 SLC66A1 54896 ENSG00000040487 Slc66a1 (MGI:2384837) -chr1 19338774 19485538 1p36.1 1p36.13 601572 CAPZB, CAPPB Capping protein (actin filament) muscle Z-line, beta CAPZB 832 ENSG00000077549 Capzb (MGI:104652) -chr1 19596978 19629819 1p36.13 1p36.13 616574 MICOS10, MINOS1, MIO10, MIC10 Mitochondrial contact site and cristae organizing system, 10kD subunit MICOS10 440574 ENSG00000173436 Micos10 (MGI:1913628) -chr1 19643228 19658451 1p36.13-p36.11 1p36.13 600613 D1S1733E, DAN Differential-screening-selected gene aberrant in neuroblastoma NBL1 4681 ENSG00000158747 aberrant in some neuroblastomas Nbl1 (MGI:104591) -chr1 19664874 19680965 1p36-p35 1p36.13 601109 HTR6 5-hydroxytryptamine (serotonin) receptor-6 HTR6 3362 ENSG00000158748 Htr6 (MGI:1196627) -chr1 19814028 19815282 1p36.13 1p36.13 617163 RNF186 Ring finger protein 186 RNF186 54546 ENSG00000178828 Rnf186 (MGI:1914075) -chr1 19881707 19912944 1p36.13 1p36.13 611758 OTUD3, KIAA0459 OTU domain-containing protein 3 OTUD3 23252 ENSG00000169914 Otud3 (MGI:1920412) -chr1 19920008 19923616 1p36 1p36.13 618320 PLA2G2E Secretory phospholipase A2, group IIE PLA2G2E 30814 ENSG00000188784 Pla2g2e (MGI:1349660) -chr1 19975430 19980433 1p35 1p36.13 172411 PLA2G2A, PLA2B, PLA2L, MOM1 Phospholipase A2, group IIA, platelets, synovial fluid PLA2G2A 5320 ENSG00000188257 germline mutation identified in 1 CRC patient {?Colorectal cancer, susceptibility to}, 114500 (3), Somatic mutation, Autosomal dominant Pla2g2a (MGI:104642) -chr1 20028348 20091910 1p36-p34 1p36.13 601192 PLA2G5, FRFB Phospholipase A2, group V PLA2G5 5322 ENSG00000127472 [Fleck retina, familial benign], 228980 (3), Autosomal recessive Pla2g5 (MGI:101899) -chr1 20100000 23600000 1p36.12 612957 B6QTL1 Vitamin B6 plasma level QTL 1 100302718 associated with rs4654748 {Vitamin B6 plasma level QTL 1}, 612957 (2) -chr1 20100000 34300000 1p36.12-p35.1 612627 BFIS4, BFIC4 Seizures, benign familial infantile, 4 100271922 between D1S2864 and D1S2830 Seizures, benign familial infantile, 4, 612627 (2) -chr1 20111938 20119535 1p36.12 1p36.12 605630 PLA2G2D, SPLASH Phospholipase A2, group IID PLA2G2D 26279 ENSG00000117215 Pla2g2d (MGI:1341796) -chr1 20139322 20150385 1p35 1p36.12 616793 PLA2G2F Phospholipase A2, group IIf PLA2G2F 64600 ENSG00000158786 Pla2g2f (MGI:1349661) -chr1 20183006 20196049 1p36.12 1p36.12 616783 UBXN10 UBX domain protein 10 UBXN10 127733 ENSG00000162543 Ubxn10 (MGI:2443123) -chr1 20482390 20486209 1p36.12 1p36.12 614986 CAMK2N1 Calcium/calmodulin-dependent protein kinase II inhibitor 1 CAMK2N1 55450 ENSG00000162545 Camk2n1 (MGI:1913509) -chr1 20499447 20508482 1p36.12 1p36.12 612037 MUL1, MULAN, C1orf166 Mitochondrial ubiquitin ligase activator of NFKB1 MUL1 79594 ENSG00000090432 Mul1 (MGI:1915600) -chr1 20589096 20618902 1p36.2-p35 1p36.12 123920 CDA Cytidine deaminase CDA 978 ENSG00000158825 Cda (MGI:1919519) -chr1 20633457 20651510 1p36 1p36.12 608309 PINK1, PARK6 PTEN-induced putative kinase 1 PINK1 65018 ENSG00000158828 Parkinson disease 6, early onset, 605909 (3), Autosomal recessive Pink1 (MGI:1916193) -chr1 20651776 20661368 1p36.1 1p36.12 602202 DDOST, OST, OST48, CDG1R Dolichyl-diphosphooligosaccharide-protein glycosyltransferase DDOST 1650 ENSG00000244038 mutation (cmpd het) identified in 1 CDG1R patient ?Congenital disorder of glycosylation, type Ir, 614507 (3), Autosomal recessive Ddost (MGI:1194508) -chr1 20664013 20718006 1p36.12 1p36.12 605037 KIF17, KIAA1405 Kinesin family member 17 KIF17 57576 ENSG00000117245 Kif17 (MGI:1098229) -chr1 20740265 20787306 1p36.12 1p36.12 616072 HP1BP3, HP1BP74 Heterochromatin protein 1-binding protein 3 HP1BP3 50809 ENSG00000127483 Hp1bp3 (MGI:109369) -chr1 20806291 21176896 1p36.12 1p36.12 603929 EIF4G3, EIF4GII Eukaryotic translation initiation factor 4-gamma, 3 EIF4G3 8672 ENSG00000075151 Eif4g3 (MGI:1923935) -chr1 21217249 21345503 1p36.1 1p36.12 600423 ECE1 Endothelin converting enzyme 1 ECE1 1889 ENSG00000117298 mutation identified in 1 HCAD patient {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial; ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3), Autosomal dominant Ece1 (MGI:1101357) -chr1 21436774 21484899 1p36.2 1p36.12 612992 NBPF3 Neuroblastoma breakpoint family, member 3 NBPF3 84224 ENSG00000142794 -chr1 21508983 21578411 1p36.1-p34 1p36.12 171760 ALPL, HOPS, TNSALP, HPPA, HPPO, HPPI, HPPC Alkaline phosphatase, liver/bone/kidney ALPL 249 ENSG00000162551 Odontohypophosphatasia, 146300 (3), Autosomal dominant, Autosomal recessive; Hypophosphatasia, infantile, 241500 (3), Autosomal recessive; Hypophosphatasia, childhood, 241510 (3), Autosomal recessive; Hypophosphatasia, adult, 146300 (3), Autosomal dominant, Autosomal recessive Alpl (MGI:87983) -chr1 21596220 21669412 1p36.1-p35 1p36.12 600278 RAP1GA1 RAP1, GTPase activating protein 1 RAP1GAP 5909 ENSG00000076864 Rap1gap (MGI:109338) -chr1 21678297 21784145 1p36 1p36.12 617445 USP48, USP31 Ubiquitin-specific peptidase 48 USP48 84196 ENSG00000090686 Usp48 (MGI:2158502) -chr1 21822243 21937309 1p36.1 1p36.12 142461 HSPG2, PLC, SJS, SJA, SJS1 Heparan sulfate proteoglycan of basement membrane (perlecan) HSPG2 3339 ENSG00000142798 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3), Autosomal recessive; Schwartz-Jampel syndrome, type 1, 255800 (3), Autosomal recessive Hspg2 (MGI:96257) -chr1 21977021 21989353 1p36.12 1p36.12 618694 CELA3B Chymotrypsin-like elastase 3A CELA3B 23436 ENSG00000219073 distal to CELA3A Cela3b,Cela3a (MGI:1915118,MGI:3651647) -chr1 22001656 22012541 1p36.12 1p36.12 618693 CELA3A Chymotrypsin-like elastase 3A CELA3A 10136 ENSG00000142789 proximal to CELA3B Cela3b,Cela3a (MGI:1915118,MGI:3651647) -chr1 22052708 22101359 1p36.1 1p36.12 116952 CDC42, TKS Cell division cycle 42 (GTP-binding protein, 25kD) CDC42 998 ENSG00000070831 Takenouchi-Kosaki syndrome, 616737 (3), Autosomal dominant Cdc42 (MGI:106211) -chr1 22117307 22143980 1p35 1p36.12 603490 WNT4, SERKAL Wingless-type MMTV integration site family, member 4 WNT4 54361 ENSG00000162552 mutation identified in 1 SERKAL family ?SERKAL syndrome, 611812 (3), Autosomal recessive; Mullerian aplasia and hyperandrogenism, 158330 (3), Autosomal dominant Wnt4 (MGI:98957) -chr1 22428837 22531153 1p36 1p36.12 612106 ZBTB40, KIAA0478 Zinc finger- and BTB domain-containing protein 40 ZBTB40 9923 ENSG00000184677 Zbtb40 (MGI:2682254) -chr1 22563488 22603594 1p36.12 1p36.12 176945 EPHA8, EEK, HEK3 Ephrin receptor EphA8 (eph- and elk-related kinase) EPHA8 2046 ENSG00000070886 Epha8 (MGI:109378) -chr1 22636462 22639677 1p36.3-p34.1 1p36.12 120550 C1QA Complement component 1, q subcomponent, A chain C1QA 712 ENSG00000173372 C1q deficiency, 613652 (3), Autosomal recessive C1qa (MGI:88223) -chr1 22643632 22648107 1p36.3-p34.1 1p36.12 120575 C1QC, C1QG Complement component 1, q subcomponent, C chain C1QC 714 ENSG00000159189 C1q deficiency, 613652 (3), Autosomal recessive C1qc (MGI:88225) -chr1 22653235 22661636 1p36.3-p34.1 1p36.12 120570 C1QB Complement component 1, q subcomponent, B chain C1QB 713 ENSG00000173369 C1q deficiency, 613652 (3), Autosomal recessive C1qb (MGI:88224) -chr1 22710769 22921499 1p36.1-p35 1p36.12 600997 EPHB2, EPHT3, DRT, ERK, PCBC, CAPB, BDPLT22 eph tyrosine kinase 3 (ephrin receptor EphB2) EPHB2 2048 ENSG00000133216 mutation identified in 1 BDPLT22 family ?Bleeding disorder, platelet-type, 22, 618462 (3), Autosomal recessive; {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3) Ephb2 (MGI:99611) -chr1 23019442 23083690 1p36.12 1p36.12 609132 KDM1A, LSD1, AOF2, BHC110, KIAA0601, CPRF Lysine demethylase 1A KDM1A 23028 ENSG00000004487 Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3), Autosomal dominant Kdm1a (MGI:1196256) -chr1 23084029 23177807 1p36 1p36.12 601422 LUZP1 Leucine zipper protein 1 LUZP1 7798 ENSG00000169641 Luzp1 (MGI:107629) -chr1 23191894 23217501 1p36.3-p34.3 1p36.12 182133 HTR1D 5-hydroxytryptamine (serotonin) receptor-1D HTR1D 3352 ENSG00000179546 Htr1d (MGI:96276) -chr1 23304687 23344315 1p36.11 1p36.12 607201 HNRPR, HNRNPR Heterogeneous nuclear ribonucleoprotein R HNRNPR 10236 ENSG00000125944 Hnrnpr (MGI:1891692) -chr1 23359447 23369835 1p36 1p36.12 611703 ZNF436, KIAA1710 Zinc finger protein 436 ZNF436 80818 ENSG00000125945 Zfp46 (MGI:99192) -chr1 23380908 23424775 1p36.12 1p36.12 604128 TCEA3 Transcription elongation factor A, 3 TCEA3 6920 ENSG00000204219 Tcea3 (MGI:1196908) -chr1 23428562 23484630 1p36.13 1p36.12 616594 ASAP3, UPLC1, CENTB6, DDEFL1, ACAP4 ARF GTPase-activating protein with SH3 domain, ankyrin repeat, and PH domain 3 ASAP3 55616 ENSG00000088280 Asap3 (MGI:2684986) -chr1 23505695 23531249 1p36 1p36.12 600426 E2F2 E2F transcription factor 2 E2F2 1870 ENSG00000007968 E2f2 (MGI:1096341) -chr1 23557925 23559500 1p36.13-p36.12 1p36.12 600277 ID3 Inhibitor of DNA binding 3, dominant negative, helix-loop-helix protein ID3 3399 ENSG00000117318 Id3 (MGI:96398) -chr1 23600000 27600000 1p36 607413 AD7CNTP Alzheimer disease neuronal thread protein -chr1 23600000 27600000 1p36 612367 ALPQTL2 Alkaline phosphatase, plasma level of, QTL 2 100196914 linkage with rs1780324 {Alkaline phosphatase, plasma level of, QTL 2}, 612367 (2) -chr1 23600000 27600000 1p36 605462 BCC1 Basal cell carcinoma, susceptibility to, 1 100307118 associated with rs7538876 {Basal cell carcinoma, susceptibility to, 1}, 605462 (2) -chr1 23600000 27600000 1p36 606928 BMND3 Bone mineral density QTL 3 246259 ?another locus at 3p21 [Bone mineral density QTL 3], 606928 (2) -chr1 23600000 27600000 1p36 155600 CMM, MLM, DNS Cutaneous malignant melanoma/dysplastic nevus 1243 some linkage studies negative; see 9p {Melanoma, cutaneous malignant, 1}, 155600 (2), Autosomal dominant -chr1 23600000 27600000 1p36 607872 DEL1p36, C1DELp36 Chromosome 1p36 deletion syndrome contiguous gene deletion syndrome Chromosome 1p36 deletion syndrome, 607872 (4), Isolated cases -chr1 23600000 46300000 1p36-p34 608995 DYX8 Dyslexia, susceptibility to, 8 406874 between D1S552 and D1S1622 {Dyslexia, susceptibility to, 8}, 608995 (2), Autosomal dominant, Multifactorial -chr1 23600000 27600000 1p36 605225 IBD7 Inflammatory bowel disease 7 57042 associated with rs6426833 {Inflammatory bowel disease 7}, 605225 (2) -chr1 23600000 34300000 1p36.1-p35 601201 MEMO1 Methylation modifier for class I HLA 7795 -chr1 23600000 27600000 1p36 612596 MS4 Multiple sclerosis, susceptibility to, 4 100271696 associated with rs10492972 {Multiple sclerosis, susceptibility to, 4}, 612596 (2) -chr1 23600000 27600000 1p36 610320 MYP14 Myopia 14 100359407 between D1S552 and D1S1622 Myopia 14, 610320 (2), Autosomal dominant -chr1 23600000 27600000 1p36 618485 ZBTB40IT1 ZBTB40 intronic transcript 1, noncoding ZBTB40-IT1 100874345 -chr1 23627333 23640567 1p36.1 1p36.11 607305 MDS2 Myelodysplasia syndrome gene 2 MDS2 259283 ENSG00000197880 fused with ETV6 in myelodysplastic syndrome -chr1 23691778 23696834 1p36.1-p35 1p36.11 604175 RPL11, DBA7 Ribosomal protein L11 RPL11 6135 ENSG00000142676 Diamond-Blackfan anemia 7, 612562 (3), Autosomal dominant Rpl11,Gm10036 (MGI:1914275,MGI:3642334) -chr1 23743470 23762058 1p36.1 1p36.11 600786 TCEB3 Transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A) ELOA 6924 ENSG00000011007 Eloa (MGI:1351315) -chr1 23778416 23788231 1p36.11 1p36.11 618784 PITHD1, C1orf128 PITH domain containing 1 PITHD1 57095 ENSG00000057757 Pithd1 (MGI:1913443) -chr1 23790788 23795538 1p36.11 1p36.11 616143 LYPLA2, APT2 Lysophospholipase II LYPLA2 11313 ENSG00000011009 Lypla2 (MGI:1347000) -chr1 23795598 23800753 1p36-p35 1p36.11 606953 GALE UDP galactose-4-epimerase GALE 2582 ENSG00000117308 Galactose epimerase deficiency, 230350 (3), Autosomal recessive Gale (MGI:1921496) -chr1 23801884 23825428 1pter-p33 1p36.11 613898 HMGCL 3-hydroxy-3-methylglutaryl-Coenzyme A lyase HMGCL 3155 ENSG00000117305 HMG-CoA lyase deficiency, 246450 (3), Autosomal recessive Hmgcl (MGI:96158) -chr1 23845076 23868331 1p34 1p36.11 612280 FUCA1 Fucosidase, alpha-L- 1, tissue FUCA1 2517 ENSG00000179163 8cM distal to RH; pseudogene on 2q31-q32 Fucosidosis, 230000 (3), Autosomal recessive Fuca1 (MGI:95593) -chr1 23870514 23913361 1p36 1p36.11 605051 CNR2, CB2, CX5 Cannabinoid receptor 2 CNR2 1269 ENSG00000188822 Cnr2 (MGI:104650) -chr1 23959163 23963461 1p36.11 1p36.11 611882 PNRC2 Proline-rich nuclear receptor coactivator 2 PNRC2 55629 ENSG00000189266 Pnrc2 (MGI:106512) -chr1 23964346 23980369 1p36.1 1p36.11 605221 SRSF10, FUSIP1, TASR, TASR1, TASR2 Splicine factor, serine/arginine-rich, 10 SRSF10 10772 ENSG00000188529 pseudogenes on chr. 9, 12, 20 Srsf10 (MGI:1333805) -chr1 24056040 24112134 1p36.11 1p36.11 616832 MYOM3 Myomesin 3 MYOM3 127294 ENSG00000142661 Myom3 (MGI:2685280) -chr1 24119770 24143178 1p36.11 1p36.11 605457 IL22RA1, IL22R1 Interleukin 22 receptor, alpha-1 IL22RA1 58985 ENSG00000142677 Il22ra1 (MGI:2663588) -chr1 24154155 24187294 1p36.11 1p36.11 607404 IFNLR1, IL28RA Interferon, lambda receptor 1 IFNLR1 163702 ENSG00000185436 Ifnlr1 (MGI:2429859) -chr1 24319332 24364481 1p36.11 1p36.11 608317 GRHL3, SOM, TFCP2L4, VWS2 Grainyhead-like 3 GRHL3 57822 ENSG00000158055 Van der Woude syndrome 2, 606713 (3), Autosomal dominant Grhl3 (MGI:2655333) -chr1 24356998 24415532 1p36.11 1p36.11 615826 STPG1, MAPO2, C1orf201 Sperm-tail PG-rich repeat-containing protein 1 STPG1 90529 ENSG00000001460 Stpg1 (MGI:1926056) -chr1 24502343 24541039 1p35.2-p33 1p36.11 605860 RCAN3, DSCR1L2, MCIP3 Regulator of calcineurin 3 RCAN3 11123 ENSG00000117602 Rcan3 (MGI:1858220) -chr1 24643272 24673280 1p36.11 1p36.11 605975 SRRM1, SRM160 Serine/arginine repetitive matrix 1 (ser/arg-related nuclear matrix protein, 160kD) SRRM1 10250 ENSG00000133226 Srrm1 (MGI:1858303) -chr1 24745446 24844320 1p36.11 1p36.11 606536 CLIC4, MTCLIC Chloride intracellular channel 4 CLIC4 25932 ENSG00000169504 Clic4 (MGI:1352754) -chr1 24899510 24965157 1p36 1p36.11 600210 RUNX3, CBFA3, PEBP2A3, AML2 Runt-related transcription factor 3 RUNX3 864 ENSG00000020633 Runx3 (MGI:102672) -chr1 25222275 25232501 1p36.11 1p36.11 607090 SYF2, P29 SYF2 pre-mRNA splicing factor SYF2 25949 ENSG00000117614 Syf2 (MGI:1915842) -chr1 25272392 25330444 1p36.2-p34 1p36.11 111680 RHD, HDFNRH Rhesus system D polypeptide RHD 6007 ENSG00000187010 {Hemolytic disease of fetus and newborn, RH-induced}, 619462 (3); [Blood group, RH system], 111690 (3) Rhd (MGI:1202882) -chr1 25338333 25362360 1p36.11 1p36.11 605348 TMEM50A, SMP1 Transmembrane protein 50A TMEM50A 23585 ENSG00000183726 between RHD and RHCE Tmem50a (MGI:1919067) -chr1 25360658 25430192 1p36.2-p34 1p36.11 111700 RHCE, RHNA Rhesus system C and E polypeptides RHCE 6006 ENSG00000188672 Rh-null disease, amorph type, 617970 (3) Rhd (MGI:1202882) -chr1 25430896 25500208 1p36.11 1p36.11 610301 TMEM57, FLJ10747 Transmembrane protein 57 MACO1 55219 ENSG00000204178 Maco1 (MGI:1913396) -chr1 25543587 25590399 1p36-p35 1p36.11 605747 LDLRAP1, ARH, FHCB2, FHCB1, FHCL4 Low density lipoprotein receptor adaptor protein 1 LDLRAP1 26119 ENSG00000157978 Hypercholesterolemia, familial, 4, 603813 (3), Autosomal recessive Ldlrap1 (MGI:2140175) -chr1 25616790 25786206 1p36.13-p35.1 1p36.11 616772 MAN1C1 Mannosidase, alpha, class 1C, member 1 MAN1C1 57134 ENSG00000117643 Man1c1 (MGI:2446214) -chr1 25800192 25818220 1p36-p35 1p36.11 606210 SELENON, SEPN1, SELN, RSMD1, CFTD Selenoprotein N SELENON 57190 ENSG00000162430 Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal dominant, Autosomal recessive; Muscular dystrophy, rigid spine, 1, 602771 (3), Autosomal recessive Selenon (MGI:2151208) -chr1 25861483 25876706 1p36.11 1p36.11 607779 PAQR7, MPRA, PGLP Progestin and ADIPOQ receptor family, member 7 PAQR7 164091 ENSG00000182749 Paqr7 (MGI:1919154) -chr1 25884178 25906879 1p36.1-p35 1p36.11 151442 STMN1, LAP18, SMN Stathmin STMN1 3925 ENSG00000117632 Stmn1 (MGI:96739) -chr1 25959763 25998163 1p36.11 1p36.11 602344 PAFAH2 Platelet-activating factor acetylhydrolase 2 PAFAH2 5051 ENSG00000158006 Pafah2 (MGI:2140321) -chr1 26021774 26036463 1p36.1 1p36.11 601738 EXTL1 Exostosin-like 1 EXTL1 2134 ENSG00000158008 Extl1 (MGI:1888742) -chr1 26037251 26046117 1p36.11 1p36.11 609617 SLC30A2, ZNT2, TNZD Solute carrier family 30 (zinc transporter), member 2 SLC30A2 7780 ENSG00000158014 Zinc deficiency, transient neonatal, 608118 (3), Autosomal dominant Slc30a2 (MGI:106637) -chr1 26051300 26067632 1p36.11 1p36.11 606131 TRIM63, RNF28, SMRZ, MURF1 Tripartite motif containing 63 TRIM63 84676 ENSG00000158022 Trim63 (MGI:2447992) -chr1 26109130 26125554 1p35.3 1p36.11 610785 PDIK1L PDLIM1-interacting kinase 1-like PDIK1L 149420 ENSG00000175087 Pdik1l (MGI:2385213) -chr1 26169907 26170872 1p36.11 1p36.11 616698 ZNF593, ZT86 Zinc finger protein 593 ZNF593 51042 ENSG00000142684 Zfp593 (MGI:1915290) -chr1 26177490 26189883 1p36.11 1p36.11 603272 CNKSR1, CNK1 Connector enhancer of KSR 1 CNKSR1 10256 ENSG00000142675 Cnksr1 (MGI:2670958) -chr1 26189961 26202963 1p35.3 1p36.11 609121 CATSPER4 Cation channel, sperm-associated, 4 CATSPER4 378807 ENSG00000188782 Catsper4 (MGI:3043288) -chr1 26234178 26278807 1p36.11 1p36.11 618898 CEP85, CCDC21 Centrosomal protein, 85kD CEP85 64793 ENSG00000130695 Cep85 (MGI:1917262) -chr1 26280085 26281521 1p36.11 1p36.11 615679 SH3BGRL3 SH3 domain-binding glutamic acid-rich protein-like protein 3 SH3BGRL3 83442 ENSG00000142669 Sh3bgrl3 (MGI:1920973) -chr1 26282281 26318354 1p36.11 1p36.11 609151 UBXN11, SOC UBX domain protein 11 UBXN11 91544 ENSG00000158062 Ubxn11 (MGI:1914836) -chr1 26317957 26320522 1p36.11 1p36.11 114280 CD52, CDW52 CD52 molecule CD52 1043 ENSG00000169442 Cd52 (MGI:1346088) -chr1 26361631 26374535 1p36.11 1p36.11 616775 ZNF683, HOBIT Zinc finger protein 683 ZNF683 257101 ENSG00000176083 Zfp683 (MGI:3650254) -chr1 26410777 26429727 1p36.11 1p36.11 611043 LIN28A lin-28 homolog A LIN28A 79727 ENSG00000131914 Lin28a (MGI:1890546) -chr1 26432320 26471305 1p36.11 1p36.11 608172 DHDDS, HDS, RP59, DEDSM Dehydrodolichyl diphosphate synthase DHDDS 79947 ENSG00000117682 mutation identified in 1 CDG1BB patient Developmental delay and seizures with or without movement abnormalities, 617836 (3), Autosomal dominant; ?Congenital disorder of glycosylation, type 1bb, 613861 (3), Autosomal recessive; Retinitis pigmentosa 59, 613861 (3), Autosomal recessive Dhdds (MGI:1914672) -chr1 26472439 26476641 1p36.1 1p36.11 163910 HMGN2, HMG17 High-mobility group nucleosomal binding protein 2 HMGN2 3151 ENSG00000198830 Hmgn2-ps,Hmgn2 (MGI:3704312,MGI:96136) -chr1 26529760 26575027 1p36.1 1p36.11 601684 RPS6KA1, RSK1 Ribosomal protein S6 kinase A1 RPS6KA1 6195 ENSG00000117676 Rps6ka1 (MGI:104558) -chr1 26696014 26782103 1p35.3 1p36.11 603024 ARID1A, C1orf4, B120, SMARCF1, MRD14, CSS2 AT rich interactive domain 1A, SWI-like ARID1A 8289 ENSG00000117713 Coffin-Siris syndrome 2, 614607 (3), Autosomal dominant Arid1a (MGI:1935147) -chr1 26787053 26800658 1p36.11 1p36.11 610274 PIGV, HPMRS1 Phosphatidylinositol glycan, class V PIGV 55650 ENSG00000060642 Hyperphosphatasia with mental retardation syndrome 1, 239300 (3), Autosomal recessive Pigv (MGI:2442480) -chr1 26863148 26864455 1p36.11 1p36.11 601290 SFN Stratifin SFN 2810 ENSG00000175793 Sfn (MGI:1891831) -chr1 26890487 26900466 1p36.11 1p36.11 617486 GPATCH3 G-patch domain-containing protein 3 GPATCH3 63906 ENSG00000198746 Gpatch3 (MGI:2442492) -chr1 26900568 26946870 1p36.11 1p36.11 610325 NUDC Nuclear distribution C, dynein complex regulator NUDC 10726 ENSG00000090273 Nudc (MGI:106014) -chr1 26911488 26914109 1p36.1 1p36.11 604630 NR0B2, SHP Nuclear receptor subfamily 0, group B, member 2 NR0B2 8431 ENSG00000131910 Obesity, mild, early-onset, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive Nr0b2 (MGI:1346344) -chr1 26949555 26960495 1p36 1p36.11 616758 KDF1, C1orf172, ECTD12 Keratinocyte differentiation factor 1 KDF1 126695 ENSG00000175707 mutation identified in 1 ECTD12 family ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, 617337 (3), Autosomal dominant Kdf1 (MGI:1916323) -chr1 26993662 27000890 1p36.11 1p36.11 616824 TRNP1 TMF1-regulated nuclear protein 1 TRNP1 388610 ENSG00000253368 Trnp1 (MGI:1916789) -chr1 27005019 27012849 1p36.11 1p36.11 619069 TENT5B, FAM46 Terminal nucleotidyltransferase 5B TENT5B 115572 ENSG00000158246 Tent5b (MGI:2140500) -chr1 27098808 27155124 1p36.1-p35 1p36.11 107310 SLC9A1, NHE1, APNH, LIKNS Solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive) SLC9A1 6548 ENSG00000090020 Lichtenstein-Knorr syndrome, 616291 (3), Autosomal recessive Slc9a1 (MGI:102462) -chr1 27322162 27336399 1p36.11 1p36.11 619469 TMEM222, C1orf160, NEDMOSBA Transmembrane protein 222 TMEM222 84065 ENSG00000186501 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, 619470 (3), Autosomal recessive Tmem222 (MGI:1098568) -chr1 27342021 27353931 1p36.11 1p36.11 608042 SYTL1, SLP1, JFC1 Synaptotagmin-like protein 1 SYTL1 84958 ENSG00000142765 Sytl1 (MGI:1933365) -chr1 27355178 27368036 1p36.11 1p36.11 604468 MAP3K6, MAPKKK6, ASK2 Mitogen-activated protein kinase kinase kinase 6 MAP3K6 9064 ENSG00000142733 Map3k6 (MGI:1855691) -chr1 27369109 27374851 1p36.11 1p36.11 604973 FCN3, HAKA1 Ficolin 3 FCN3 8547 ENSG00000142748 Immunodeficiency due to ficolin 3 deficiency, 613860 (3), Autosomal recessive -chr1 27392621 27395813 1p36.1-p34.3 1p36.11 600241 GPR3 G protein-coupled receptor-3 GPR3 2827 ENSG00000181773 Gpr3 (MGI:101908) -chr1 27404229 27490166 1p36.11-p34.3 1p36.11 605875 WASF2, WAVE2, SCAR2 WAS protein family member 2 WASF2 10163 ENSG00000158195 ?pseudogene on Xp11.21 Wasf2 (MGI:1098641) -chr1 27534244 27604177 1p36.11 1p36.1-p35.3 615790 AHDC1, XIGIS, MRD25 AT-hook DNA-binding motif-containing protein 1 AHDC1 27245 ENSG00000126705 Xia-Gibbs syndrome, 615829 (3), Autosomal dominant Ahdc1 (MGI:2444218) -chr1 27612063 27635560 1p36.2-p36.1 1p35.3 164940 FGR, SRC2 Oncogene FGR FGR 2268 ENSG00000000938 same as SRC2 Fgr (MGI:95527) -chr1 27666060 27672228 1p35 1p35.3 147572 G1P3, IFI616 Interferon, alpha-inducible protein (clone IFI-6-16) IFI6 2537 ENSG00000126709 -chr1 27773218 27824442 1p35.3 1p35.3 606892 STX12, STX13 Syntaxin 12 STX12 23673 ENSG00000117758 Stx12 (MGI:1931027) -chr1 27830781 27851675 1p35 1p35.3 602636 PPP1R8, NIPP1, ARD1 Protein phosphatase-1, regulatory subunit-8 PPP1R8 5511 ENSG00000117751 Ppp1r8 (MGI:2140494) -chr1 27872530 27886678 1p35.3 1p35.3 617856 THEMIS2, C1orf38, ICB1 Thymocyte selection-associated protein family, member 2 THEMIS2 9473 ENSG00000130775 Themis2 (MGI:2446213) -chr1 27891523 27914796 1p35 1p35.3 179836 RPA2 Replication protein A2, 32kD RPA2 6118 ENSG00000117748 Rpa2 (MGI:1339939) -chr1 27934954 27959151 1p35.3 1p35.3 617737 SMPDL3B, ASML3B Sphingolyelin phosphodiesterase, acid-like, 3B SMPDL3B 27293 ENSG00000130768 Smpdl3b (MGI:1916022) -chr1 27970343 28088670 1p36 1p35.3 601655 EYA3 EYA transcriptional coactivator and phosphatase 3 EYA3 2140 ENSG00000158161 Eya3 (MGI:109339) -chr1 28147165 28193855 1p35-p34.3 1p35.3 173393 PTAFR Platelet-activating factor receptor PTAFR 5724 ENSG00000169403 Ptafr (MGI:106066) -chr1 28236123 28238099 1p35.3 1p35.3 614981 ATP1F1, IF1 ATPase inhibitory factor 1 ATP5IF1 93974 ENSG00000130770 Atpif1 (MGI:1196457) -chr1 28259451 28282490 1p35.3 1p35.3 607767 SEST2, HI95 Sestrin 2 SESN2 83667 ENSG00000130766 Sesn2 (MGI:2651874) -chr1 28329039 28335966 1p35.3 1p35.3 612384 MED18 Mediator complex subunit 18 MED18 54797 ENSG00000130772 Med18 (MGI:1914469) -chr1 28369739 28500363 1p35.3 1p35.3 608726 PHACTR4 Phosphatase and actin regulator 4 PHACTR4 65979 ENSG00000204138 Phactr4 (MGI:2140327) -chr1 28505942 28510891 1p36.1 1p35.3 603238 RNU17D, U17HG RNA, U17d small nucleolar SNHG3 8420 ENSG00000242125 Snhg3 (MGI:2684817) -chr1 28506042 28538988 1p36.1 1p35.3 179710 CHC1, RCC1 Regulator of chromosome condensation RCC1 1104 ENSG00000180198 Rcc1 (MGI:1913989) -chr1 28507364 28507570 1p36.1 1p35.3 180645 RNU17A, RNE1 RNA, U17a small nucleolar SNORA73A 6080 ENSG00000274266 in IVS1 of CHC1 -chr1 28508557 28508761 1p36.1 1p35.3 603239 RNU17B RNA, U17b small nucleolar SNORA73B 26768 ENSG00000200087 -chr1 28602849 28648706 1p35.3 1p35.3 600773 TAF12 TAF12 RNA polymerase II, TATA box-binding protein-associated factor, 20kD TAF12 6883 ENSG00000120656 Taf12 (MGI:1913714) -chr1 28668781 28719352 1p35.3 1p35.3 604409 GMEB1 Glucocorticoid modulatory element-binding protein 1 GMEB1 10691 ENSG00000162419 Gmeb1 (MGI:2135604) -chr1 28736623 28769774 1p35 1p35.3 610640 YTHDF2 YTH N6-methyladenosine RNA-binding protein 2 YTHDF2 51441 ENSG00000198492 fused with AML1 in t(1;21) Ythdf2 (MGI:2444233) -chr1 28812169 28871266 1p36.1-p34.3 1p35.3 165195 OPRD1 Opioid receptor, delta-1 OPRD1 4985 ENSG00000116329 Oprd1 (MGI:97438) -chr1 28887099 29120040 1p36.2-p34 1p35.3 130500 EPB41, EL1 Erythrocyte surface protein band 4.1 EPB41 2035 ENSG00000159023 Elliptocytosis-1, 611804 (3), Autosomal dominant, Autosomal recessive Epb41 (MGI:95401) -chr1 29147742 29181899 1p35.3 1p35.3 601940 SRSF4, SFRS4, SRp75 Splicing factor, serine/arginine-rich, 4 SRSF4 6429 ENSG00000116350 Srsf4 (MGI:1890577) -chr1 29192656 29230947 1p35.3 1p35.3 608205 MECR, NRBF1, DYTOABG Mitochondrial trans-2-enoyl-CoA reductase MECR 51102 ENSG00000116353 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3), Autosomal recessive Mecr (MGI:1349441) -chr1 29236521 29326801 1p35.3 1p35.3 602454 PTPRU, GLEPP1, PTPU2 Protein tyrosine phosphatase, receptor type, U PTPRU 10076 ENSG00000060656 Ptpru (MGI:1321151) -chr1 30711276 30723584 1p35 1p35.2 115437 MATN1, CRTM, CMP Matrilin 1, cartilage matrix protein MATN1 4146 ENSG00000162510 Matn1 (MGI:106591) -chr1 30732468 30757839 1p34 1p35.2 601476 LAPTM5 Lysosomal-associated multispanning membrane protein-5 LAPTM5 7805 ENSG00000162511 Laptm5 (MGI:108046) -chr1 30869465 30909734 1pter-p22.3 1p35.2 186357 SDC3, SYND3, SDCN Syndecan 3 SDC3 9672 ENSG00000162512 {Obesity, association with}, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive Sdc3 (MGI:1349163) -chr1 30931505 31065716 1p35.2 1p35.2 607204 PUM1, KIAA0099, SCA47 Pumilio RNA binding family member 1 PUM1 9698 ENSG00000134644 Spinocerebellar ataxia 47, 617931 (3), Autosomal dominant Pum1 (MGI:1931749) -chr1 31179269 31239886 1p35.2 1p35.2 612871 NKAIN1 Na+/K+ transporting ATPase-interacting 1 NKAIN1 79570 ENSG00000084628 Nkain1 (MGI:1914399) -chr1 31259567 31296787 1p35.2 1p35.2 607797 SNRNP40, SPF38, PRPF8BP Small nuclear ribonucleoprotein 40kDa (U5) SNRNP40 9410 ENSG00000060688 Snrnp40 (MGI:1913835) -chr1 31359594 31373617 1p33-p31 1p35.2 134651 FABP3 Fatty acid-binding protein 3, muscle FABP3 2170 ENSG00000121769 Fabp3 (MGI:95476) -chr1 31409776 31434677 1p35.2 1p35.2 614549 SERINC2 Serine incorporator 2 SERINC2 347735 ENSG00000168528 Serinc2 (MGI:1919132) -chr1 31576383 31587685 1p35.2 1p35.2 616064 TINAGL1, TINAGRP Tubulointerstitial nephritis antigen-like protein 1 TINAGL1 64129 ENSG00000142910 Tinagl1 (MGI:2137617) -chr1 31617688 31632517 1p35.2 1p35.2 602392 HCRTR1, OX1R Hypocretin receptor 1 HCRTR1 3061 ENSG00000121764 Hcrtr1 (MGI:2385650) -chr1 31629865 31644875 1p34 1p35.2 610033 PEF1 Peflin PEF1 553115 ENSG00000162517 Pef1 (MGI:1915148) -chr1 31652262 31704161 1p34 1p35.2 120326 COL16A1 Collagen XVI, alpha-1 polypeptide COL16A1 1307 ENSG00000084636 Col16a1 (MGI:1095396) -chr1 31727104 31764339 1p35 1p35.2 602683 ADGRB2, BAI2 Adhesion G protein-coupled receptor B2 ADGRB2 576 ENSG00000121753 Adgrb2 (MGI:2451244) -chr1 31790421 31816021 1p35.2 1p35.2 619038 SPOCD1 SPOC domain-containing protein 1 SPOCD1 90853 ENSG00000134668 Spocd1 (MGI:3652045) -chr1 31906420 31938367 1p35 1p35.2 601584 PTP4A2, PTP4A, PRL2, HH13 Protein tyrosine phosphatase, type 4A, 2 PTP4A2 8073 ENSG00000184007 Ptp4a2 (MGI:1277117) -chr1 32013867 32060849 1p32 1p35.2 602489 KHDRBS1, SAM68 KH domain-containing, RNA-binding, signal transduction-associated protein 1 KHDRBS1 10657 ENSG00000121774 Khdrbs1 (MGI:893579) -chr1 32108042 32176562 1p35.1 1p35.2 610563 KPNA6 Karyopherin alpha-6 KPNA6 23633 ENSG00000025800 Kpna6 (MGI:1100836) -chr1 32200594 32205386 1p35.1 1p35.2 610162 CCDC28B, MGC1203 Coiled-coil domain-containing protein 28B CCDC28B 79140 ENSG00000160050 {Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Digenic recessive, Autosomal recessive Ccdc28b (MGI:1913514) -chr1 32221583 32236169 1p34.1 1p35.2 603911 EIF3I, EIF3S2, TRIP1 Eukaryotic translation initiation factor 3, subunit I EIF3I 8668 ENSG00000084623 pseudogene on 7q32 Eif3i (MGI:1860763) -chr1 32251264 32286164 1p35-p34.3 1p35.2 153390 LCK, IMD22 Lymphocyte-specific protein tyrosine kinase LCK 3932 ENSG00000182866 LCK/TCRB fusion in leukemia; mutation identified in 1 IMD22 patient ?Immunodeficiency 22, 615758 (3), Autosomal recessive Lck (MGI:96756) -chr1 32292082 32333627 1p34.1 1p35.2-p35.1 601241 HDAC1, RPD3L1 Histone deacetylase-1 HDAC1 3065 ENSG00000116478 Hdac1 (MGI:108086) -chr1 32300000 34300000 1p35 617930 C1DELp35, DEL1p35 Chromosome 1p35 deletion syndrome SRO 1.03 Mb containing 23 genes Chromosome 1p35 deletion syndrome, 617930 (4), Autosomal dominant -chr1 32300000 34300000 1p35 132850 EBVS1 Epstein-Barr virus integration site EBVS1 1888 -chr1 32333838 32336232 1p34 1p35.1 602940 MARCKSL1, MLP, MRP MARCKS-like protein 1 MARCKSL1 65108 ENSG00000175130 Marcksl1 (MGI:97143) -chr1 32352719 32365264 1p35-p34 1p35.1 607660 TSSK3, STK22C, STK22D Testis-specific serine/threonine kinase 3 TSSK3 81629 ENSG00000162526 Tssk3 (MGI:1929914) -chr1 32364632 32394440 1p35.1 1p35.1 617518 BSDC1 BSD domain-containing protein 1 BSDC1 55108 ENSG00000160058 Bsdc1 (MGI:1913466) -chr1 32539426 32605940 1p35.1 1p35.1 618742 ZBTB8A, BOZF1 Zinc finger- and BTB domain-containing protein 8A ZBTB8A 653121 ENSG00000160062 Zbtb8a (MGI:1920930) -chr1 32620817 32651007 1p35.1 1p35.1 615891 ZBTB8OS, ARCH Zinc finger- and BTB domain-containing protein 8, opposite strand ZBTB8OS 339487 ENSG00000176261 Zbtb8os (MGI:1914356) -chr1 32651207 32686210 1p35.1 1p35.1 602923 RBBP4, RBAP48 Retinoblastoma-binding protein 4 RBBP4 5928 ENSG00000162521 Rbbp4 (MGI:1194912) -chr1 32679905 32703595 1p34.3-p34.1 1p35.1 611750 SYNC1 Syncoilin 1 SYNC 81493 ENSG00000162520 Sync (MGI:1916078) -chr1 32775237 32817384 1p35 1p35.1 603623 YARS1, YARS, CMTDIC, TYRRS, YTS, YRS, IMNEPD2 Tyrosyl-tRNA synthetase 1 YARS1 8565 ENSG00000134684 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, 619418 (3), Autosomal recessive; Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3), Autosomal dominant Yars (MGI:2147627) -chr1 32816766 32858878 1p34.3 1p35.1 611889 S100PBP, S100PBPR S100P-binding protein S100PBP 64766 ENSG00000116497 S100pbp (MGI:1921898) -chr1 32862267 32872483 1p35.1 1p35.1 611906 FNDC5, FRCP2 Fibronectin type III domain-containing protein 5 FNDC5 252995 ENSG00000160097 Fndc5 (MGI:1917614) -chr1 32885964 32894645 1p35-p34.2 1p35.1 142622 HPCA, DYT2 Hippocalcin, 23kD, Ca2+-binding protein HPCA 3208 ENSG00000121905 Dystonia 2, torsion, autosomal recessive, 224500 (3), Autosomal recessive Hpca (MGI:1336200) -chr1 32932497 32965265 1p35.1 1p35.1 610872 IBRDC3, NKLAM IBR domain-containing protein 3 RNF19B 127544 ENSG00000116514 Rnf19b (MGI:1922484) -chr1 33007939 33036882 1p34 1p35.1 103020 AK2 Adenylate kinase-2, mitochondrial AK2 204 ENSG00000004455 Reticular dysgenesis, 267500 (3), Autosomal recessive Ak2 (MGI:87978) -chr1 33081151 33162287 1p34.3-p33 1p35.1 608353 AZIN2, ODC1L, KIAA1945 Antizyme inhibitor 2 AZIN2 113451 ENSG00000142920 Azin2 (MGI:2442093) -chr1 33145398 33184773 1p35.1 1p35.1 616755 TRIM62, DEAR1 Tripartite motif-containing protein 62 TRIM62 55223 ENSG00000116525 Trim62 (MGI:1914775) -chr1 33323625 33431094 1p35.1 1p35.1 602979 PHC2 Polyhomeotic homolog 2 PHC2 1912 ENSG00000134686 Phc2 (MGI:1860454) -chr1 33472590 33504252 1p35.1 1p35.1 611315 ZSCAN20, ZNF31, KOX29 Zinc finger- and SCAN domain-containing protein 20 ZSCAN20 7579 ENSG00000121903 Zscan20 (MGI:2679268) -chr1 33513997 34165841 1p35.3 1p35.1 608398 CSMD2, KIAA1884 Cub and Sushi multiple domains 2 CSMD2 114784 ENSG00000121904 Csmd2 (MGI:2386401) -chr1 33860474 33864790 1p35.1 1p35.1 617285 HMGB4 High mobility group box 4 HMGB4 127540 ENSG00000176256 Hmgb4 (MGI:1916567) -chr1 34300000 39600000 1p34.3 609919 GBD3 Gallbladder disease 3 100048906 new D2S255 Gallbladder disease 3, 609919 (2) -chr1 34754776 34758512 1p35.1 1p34.3 604493 GJB5, CX31.1 Gap junction protein, beta-5 GJB5 2709 ENSG00000189280 Gjb5 (MGI:95723) -chr1 34759739 34762326 1p35.1 1p34.3 605425 GJB4, CX30.3, EKVP2 Gap junction protein, beta-4 GJB4 127534 ENSG00000189433 Erythrokeratodermia variabilis et progressiva 2, 617524 (3), Autosomal dominant Gjb4 (MGI:95722) -chr1 34781213 34786363 1p35.1 1p34.3 603324 GJB3, CX31, DFNA2B, EKVP1 Gap junction protein, beta-3 GJB3 2707 ENSG00000188910 same YAC as GJA4 Deafness, digenic, GJB2/GJB3, 220290 (3), Digenic dominant, Autosomal recessive; Deafness, autosomal recessive (3); Deafness, autosomal dominant 2B, 612644 (3), Autosomal dominant; Erythrokeratodermia variabilis et progressiva 1, 133200 (3), Autosomal dominant, Autosomal recessive; Deafness, autosomal dominant, with peripheral neuropathy (3) Gjb3 (MGI:95721) -chr1 34792957 34795746 1p35.1 1p34.3 121012 GJA4, CX37 Gap junction protein, alpha-4, 37kD (connexin 37) GJA4 2701 ENSG00000187513 Gja4 (MGI:95715) -chr1 34862119 34929649 1p34.3 1p34.3 611413 DLGAP3, SPAPA3 Discs large-associated protein 3 DLGAP3 58512 ENSG00000116544 Dlgap3 (MGI:3039563) -chr1 34986164 35031944 14q12 1p34.3 613567 ZMYM6, ZNF258 Zinc finger, MYM-type 6 ZMYM6 9204 ENSG00000163867 Zmym6 (MGI:106505) -chr1 35176379 35193173 1p34 1p34.3 605199 SFPQ, PSF Splicing factor, proline- and glutamine-rich SFPQ 6421 ENSG00000116560 fusion gene with TFE3 in RCC Sfpq (MGI:1918764) -chr1 35268693 35422057 1p34.3 1p34.3 613568 ZMYM4, ZNF262, KIAA0425 Zinc finger, MYM-type 4 ZMYM4 9202 ENSG00000146463 Zmym4 (MGI:1915035) -chr1 35433489 35557602 1p34.3 1p34.3 613535 KIAA0319L, KIAA1837 KIAA0319-like KIAA0319L 79932 ENSG00000142687 AU040320 (MGI:2140475) -chr1 35557798 35566778 1p34.3 1p34.3 608458 NCDN, KIAA0607, NEDIES Neurochondrin NCDN 23154 ENSG00000020129 Neurodevelopmental disorder with infantile epileptic spasms, 619373 (3), Autosomal dominant Ncdn (MGI:1347351) -chr1 35568738 35595590 1p34.3 1p34.3 614428 TFAP2E Transcription factor AP2-epsilon TFAP2E 339488 ENSG00000116819 Tfap2e (MGI:2679630) -chr1 35599540 35641525 1p34.2 1p34.3 602175 PSMB2 Proteasome subunit, beta type, 2 PSMB2 5690 ENSG00000126067 Psmb2 (MGI:1347045) -chr1 35720212 35769984 1p34.3-p34.1 1p34.3 605434 CLSPN Claspin CLSPN 63967 ENSG00000092853 Clspn (MGI:2445153) -chr1 35807629 35857889 1p34.3 1p34.3 607356 AGO4, EIF2C4, KIAA1567 Argonaute RISC component 4 AGO4 192670 ENSG00000134698 Ago4 (MGI:1924100) -chr1 35869760 35930531 1p35-p34 1p34.3 606228 AGO1, EIF2C1, GERP95, EIF2C Argonaute RISC component 1 AGO1 26523 ENSG00000092847 Ago1 (MGI:2446630) -chr1 35925682 36072499 1p35-p34 1p34.3 607355 AGO3, EIF2C3 Argonaute RISC component 3 AGO3 192669 ENSG00000126070 Ago3 (MGI:2446634) -chr1 36084093 36088274 1p34.3 1p34.3 608953 TEKT2, TEKTB1 Tektin 2 TEKT2 27285 ENSG00000092850 Tekt2 (MGI:1346335) -chr1 36088884 36093931 1p35.3-p34.1 1p34.3 610624 ADPRHL2, ARH3, CONDSIAS ADP-ribosylhydrolase-like 2 ADPRS 54936 ENSG00000116863 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 (3), Autosomal recessive Adprs (MGI:2140364) -chr1 36095238 36126206 1p34.3-p32.3 1p34.3 120252 COL8A2, FECD1, PPCD2 Collagen VIII, alpha-2 polypeptide COL8A2 1296 ENSG00000171812 Corneal dystrophy, posterior polymorphous 2, 609140 (3), Autosomal dominant; Corneal dystrophy, Fuchs endothelial, 1, 136800 (3), Autosomal dominant Col8a2 (MGI:88464) -chr1 36136571 36156052 1p34.3 1p34.3 610955 TRAPPC3, BET3 Trafficking protein particle complex, subunit 3 TRAPPC3 27095 ENSG00000054116 Trappc3 (MGI:1351486) -chr1 36224428 36305356 1p34.3 1p34.3 603809 THRAP3, TRAP150 Thyroid hormone receptor-associated protein 3 THRAP3 9967 ENSG00000054118 Thrap3 (MGI:2442637) -chr1 36339627 36385923 1p34.3 1p34.3 609437 STK40, SHIK Serine/threonine protein kinase 40 STK40 83931 ENSG00000196182 Stk40 (MGI:1921428) -chr1 36393435 36397907 1p34.3 1p34.3 617909 LSM10 Lsm10, U7 small nuclear RNA-associated protein LSM10 84967 ENSG00000181817 Lsm10 (MGI:2151045) -chr1 36417905 36450484 1p34.2 1p34.3 608854 NOR1 Oxidored-nitro domain-containing protein 1 OSCP1 127700 ENSG00000116885 Oscp1 (MGI:1916308) -chr1 36455717 36464383 1p35-p34.1 1p34.3 611979 MRPS15 Mitochondrial ribosomal protein S15 MRPS15 64960 ENSG00000116898 Mrps15 (MGI:1913657) -chr1 36466042 36483313 1p35-p34.3 1p34.3 138971 CSF3R, GCSFR, SCN7 Colony-stimulating factor-3 receptor (granulocyte) CSF3R 1441 ENSG00000119535 Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3), Autosomal recessive Csf3r (MGI:1339755) -chr1 36795526 37034514 1p34-p33 1p34.3 138243 GRIK3, GLUR7 Glutamate receptor, ionotropic, kainate 3 GRIK3 2899 ENSG00000163873 Grik3 (MGI:95816) -chr1 37474517 37484376 1p35.3-p33 1p34.3 610562 ZC3H12A, MCPIP, MCPIP1 Zinc finger CCCH domain-containing protein 12A ZC3H12A 80149 ENSG00000163874 Zc3h12a (MGI:2385891) -chr1 37489992 37514765 1p35.3-p33 1p34.3 611001 MEAF6, C1orf149, EAF6 MYST/ESA1-associated factor 6 MEAF6 64769 ENSG00000163875 Meaf6 (MGI:1917338) -chr1 37534448 37554292 1p34.3 1p34.3 608241 SNIP1, PMRED SMAD nuclear interacting protein 1 SNIP1 79753 ENSG00000163877 Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3), Autosomal recessive Snip1 (MGI:2156003) -chr1 37556939 37566856 1p35.1 1p34.3 602135 DNALI1, P28 Dynein, axonemal, light intermediate polypeptide 1 DNALI1 7802 ENSG00000163879 Dnali1 (MGI:1922813) -chr1 37566815 37595936 1p34.3 1p34.3 609365 GNL2, NGP1 Guanine nucleotide-binding protein-like 2 GNL2 29889 ENSG00000134697 Gnl2 (MGI:2385207) -chr1 37611349 37634905 1p34.3 1p34.3 609595 RSPO1, FLJ40906 R-spondin 1 RSPO1 284654 ENSG00000169218 Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3), Autosomal recessive; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3), Autosomal recessive Rspo1 (MGI:2183426) -chr1 37681569 37692335 1p34.3 1p34.3 614799 C1orf109 Chromosome 1 open reading frame 109 C1orf109 54955 ENSG00000116922 9930104L06Rik (MGI:3041172) -chr1 37692515 37709718 1p34.3 1p34.3 609977 CDCA8 Cell division cycle-associated protein 8 CDCA8 55143 ENSG00000134690 possible pseudogene on chr.7 Cdca8 (MGI:1196274) -chr1 37713887 37765119 1p34.3 1p34.3 611123 EPHA10 Ephrin receptor EphA10 EPHA10 284656 ENSG00000183317 Epha10 (MGI:3586824) -chr1 37802944 37808207 1p34.2 1p34.3 612276 YRDC, IRIP YRDC domain-containing protein YRDC 79693 ENSG00000196449 Yrdc (MGI:2387201) -chr1 37809569 37859613 1p33 1p34.3 600172 MTF1 Metal-regulatory transcription factor 1 MTF1 4520 ENSG00000188786 Mtf1 (MGI:101786) -chr1 37860696 37947094 1p34 1p34.3 147264 INPP5B Inositol polyphosphate-5-phosphatase, 75kD INPP5B 3633 ENSG00000204084 Inpp5b (MGI:103257) -chr1 37956974 37990021 1p34.3 1p34.3 605596 SF3A3, SF3A60, SAP61, PRP9 Splicing factor 3A, subunit 3 SF3A3 10946 ENSG00000183431 Sf3a3 (MGI:1922312) -chr1 37996764 38005690 1p34 1p34.3 602790 FHL3, SLIM2 Four-and-a-half LIM domains-3 FHL3 2275 ENSG00000183386 Fhl3 (MGI:1341092) -chr1 38012715 38024819 1p34.3 1p34.3 609440 UTP11L, CGI94 UTP11-like protein UTP11 51118 ENSG00000183520 Utp11 (MGI:1914455) -chr1 38043828 38046792 1p34.1 1p34.3 602479 POU3F1 POU domain, class 3, transcription factor-1 POU3F1 5453 ENSG00000185668 Pou3f1 (MGI:101896) -chr1 38838197 38859771 1p34 1p34.3 608267 RRAGC, RAGC RAS-related GTP-binding protein C RRAGC 64121 ENSG00000116954 Rragc (MGI:1858751) -chr1 38862489 38873377 1p33-p32.2 1p34.3 606535 MYCBP MYC-binding protein MYCBP 26292 ENSG00000214114 Mycbp (MGI:1891750) -chr1 38874068 38881586 1p34.3 1p34.3 611923 GJA9, CX59 Gap junction protein, alpha-9 GJA9 81025 ENSG00000131233 -chr1 38991275 39006058 1p34.3 1p34.3 615164 AKIRIN1 Akirin 1 AKIRIN1 79647 ENSG00000174574 Akirin1 (MGI:1915300) -chr1 39026349 39034614 1p34.2-p33 1p34.3 603847 NDUFS5 NADH-ubiquinone oxidoreductase subunit S5 NDUFS5 4725 ENSG00000168653 Ndufs5 (MGI:1890889) -chr1 39084166 39487137 1p32-p31 1p34.3 608271 MACF1, ACF7, KIAA1251, LIS9 Microtubule-actin cross-linking factor 1 MACF1 23499 ENSG00000127603 Lissencephaly 9 with complex brainstem malformation, 618325 (3), Autosomal dominant Macf1 (MGI:108559) -chr1 39560815 39576789 1p36-p32 1p34.3 603407 PABPC4, PABP4, IPABP, APP1 Polyadenylate-binding protein, cytoplasmic, 4 PABPC4 8761 ENSG00000090621 Pabpc4 (MGI:2385206) -chr1 39623434 39639642 1p34.3 1p34.2 609034 HEYL HES-related bHLH transcription factor with YRPW motif-like protein HEYL 26508 ENSG00000163909 Heyl (MGI:1860511) -chr1 39651228 39672106 1p34.3-p33 1p34.2 610525 NT5C1A, CN1A, CNI, CN1 5'-nucleotidase, cytosolic, IA NT5C1A 84618 ENSG00000116981 Nt5c1a (MGI:2155700) -chr1 39678647 39691432 1p34.2 1p34.2 619211 HPCAL4, HLP4 Hippocalcin-like 4 HPCAL4 51440 ENSG00000116983 Hpcal4 (MGI:2157521) -chr1 39738844 39765697 1p34.2 1p34.2 602435 PPIE, CYP33 Peptidyl-prolyl isomerase E PPIE 10450 ENSG00000084072 Ppie (MGI:1917118) -chr1 39757181 39788864 1p34.2 1p34.2 602284 BMP8B, OP2 Bone morphogenetic protein-8b (osteogenic protein 2) BMP8B 656 ENSG00000116985 Bmp8b,Bmp8a (MGI:104515,MGI:107335) -chr1 39769522 39771347 1p34.2 1p34.2 610289 OXCT2, FLJ0030 3-oxoacid CoA transferase 2 OXCT2 64064 ENSG00000198754 Oxct2a,Oxct2b (MGI:2664115,MGI:1891061) -chr1 39838109 39883510 1p34.2 1p34.2 617840 TRIT1, IPT, COXPD35 tRNA isopentenyltransferase 1 TRIT1 54802 ENSG00000043514 Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive Trit1 (MGI:1914216) -chr1 39895427 39901916 1p34.3 1p34.2 164850 MYCL, LMYC MYCL protooncogene, bHLH transcription factor MYCL 4610 ENSG00000116990 Mycl (MGI:96799) -chr1 39955144 39969955 1p34.2 1p34.2 614397 MFSD2A, NEDMISBA Major facilitator superfamily domain-containing protein 2A MFSD2A 84879 ENSG00000168389 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities, 616486 (3), Autosomal recessive Mfsd2a (MGI:1923824) -chr1 40040239 40072647 1p34.2 1p34.2 617801 CAP1 Cyclase-associated actin cytoskeleton regulatory protein 1 CAP1 10487 ENSG00000131236 Cap1 (MGI:88262) -chr1 40071460 40097251 1p32 1p34.2 600722 PPT1, CLN1 Palmitoyl-protein thioesterase 1 PPT1 5538 ENSG00000131238 Ceroid lipofuscinosis, neuronal, 1, 256730 (3), Autosomal recessive Ppt1 (MGI:1298204) -chr1 40161386 40240920 1p32 1p34.2 180610 RLF Rearranged L-myc fusion sequence RLF 6018 ENSG00000117000 <800kb from MYCL1 Rlf (MGI:1924705) -chr1 40258077 40294179 1p34 1p34.2 606480 ZMPSTE24, FACE1, STE24, MADB Zinc metalloproteinase STE24 ZMPSTE24 10269 ENSG00000084073 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3), Autosomal recessive; Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive Zmpste24 (MGI:1890508) -chr1 40300486 40317652 1p34.2 1p34.2 120260 COL9A2, EDM2, STL5 Collagen IX, alpha-2 polypeptide COL9A2 1298 ENSG00000049089 mutation identified in1 STL5 family Epiphyseal dysplasia, multiple, 2, 600204 (3), Autosomal dominant; ?Stickler syndrome, type V, 614284 (3), Autosomal recessive Col9a2 (MGI:88466) -chr1 40373671 40423325 1p34.2 1p34.2 616916 SMAP2, SMAP1L Small ADP-ribosylation factor GTPase-activating protein 2 SMAP2 64744 ENSG00000084070 Smap2 (MGI:1917030) -chr1 40477219 40496342 1p34.2 1p34.2 617939 ZFP69, ZNF642 Zinc finger protein 69 ZFP69 339559 ENSG00000187815 Zfp69 (MGI:107794) -chr1 40508740 40516049 1p34.2 1p34.2 618601 EXO5, C1orf176 Exonuclease 5 EXO5 64789 ENSG00000164002 Exo5 (MGI:1920422) -chr1 40620679 40692103 1p34.1 1p34.2 611600 RIMS3, NIM3, KIAA0137 Protein regulating synaptic membrane exocytosis 3 RIMS3 9783 ENSG00000117016 Rims3 (MGI:2443331) -chr1 40691698 40771602 1p32 1p34.2 605344 NFYC, CBFC Nuclear transcription factor Y, gamma NFYC 4802 ENSG00000066136 Nfyc (MGI:107901) -chr1 40754354 40754445 1p34.2 1p34.2 619105 MIR30E, MIR30E* Micro RNA 30E MIR30E 407034 ENSG00000198974 Mir30e (MGI:3619329) -chr1 40757283 40757371 1p34.2 1p34.2 615151 MIR30C1 Micro RNA 30C-1 MIR30C1 407031 ENSG00000207962 Mir30c-1 (MGI:2676909) -chr1 40783786 40840456 1p34 1p34.2 603537 KCNQ4, DFNA2A Potassium voltage-gated channel, KQT-like subfamily, member 4 KCNQ4 9132 ENSG00000117013 Deafness, autosomal dominant 2A, 600101 (3), Autosomal dominant Kcnq4 (MGI:1926803) -chr1 40861053 40862362 1p35-p34 1p34.2 606815 CITED4 CBP/P300-interacting transactivator, with glu/asp-rich carboxy terminal domain, 4 CITED4 163732 ENSG00000179862 Cited4 (MGI:1861694) -chr1 40979695 41012564 1p34.1 1p34.2 123860 CTPS1, CTPS, IMD24 Cytidine 5'-triphosphate synthetase 1 CTPS1 1503 ENSG00000171793 Immunodeficiency 24, 615897 (3), Autosomal recessive Ctps (MGI:1858304) -chr1 41027201 41242305 1p34 1p34.2 616396 SCMH1 Scm polycomb group protein homolog 1 SCMH1 22955 ENSG00000010803 Scmh1 (MGI:1352762) -chr1 41361433 41383589 1p34.1 1p34.2 611457 FOXO6 Forkhead box O6 FOXO6 100132074 Foxo6 (MGI:2676586) -chr1 41478774 41484698 1p34 1p34.2 131241 EDN2 Endothelin-2 EDN2 1907 ENSG00000127129 vasoactive intestinal contractor (VIC) = mouse and rat equivalent Edn2 (MGI:95284) -chr1 41506364 42035933 1p34 1p34.2 606649 HIVEP3, KRC Human immunodeficiency virus type 1 enhancer-binding protein 3 HIVEP3 59269 ENSG00000127124 Hivep3 (MGI:106589) -chr1 42153409 42155819 1p34-p33 1p34.2 601271 GUCA2B, UGN Guanylate cyclase activator 2B (uroguanylin) GUCA2B 2981 ENSG00000044012 Guca2b (MGI:1270851) -chr1 42162689 42164744 1p35-p34 1p34.2 139392 GUCA2A, GUCA2 Guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable) GUCA2A 2980 ENSG00000197273 Guca2a (MGI:102738) -chr1 42176538 42336804 1p34.2 1p34.2 616035 FOXJ3, KIAA1041 Forkhead box J3 FOXJ3 22887 ENSG00000198815 Foxj3 (MGI:2443432) -chr1 42380791 42425812 1p34.2 1p34.2 618949 RIMKLA, NAAGS2 Ribosomal modification protein RimK-like family, member A RIMKLA 284716 ENSG00000177181 Rimkla (MGI:3040686) -chr1 42456340 42473416 1p13.1-p12 1p34.2 609853 PPCS, CMD2C Phosphopantothenoylcysteine synthetase PPCS 79717 ENSG00000127125 Cardiomyopathy, dilated, 2C, 618189 (3), Autosomal recessive Ppcs (MGI:1915237) -chr1 42657769 42681653 1p34.1 1p34.2 606095 PPIH Peptidyl-prolyl isomerase H PPIH 10465 ENSG00000171960 Ppih (MGI:106499) -chr1 42682417 42703804 1p34 1p34.2 154030 YBX1, NSEP1, YB1, DBPB Y box binding protein 1 (major histocompatibility complex, class II, Y box-binding protein I) YBX1 4904 ENSG00000065978 Ybx1 (MGI:99146) -chr1 42733092 42740235 1p34.2 1p34.2 610036 CLDN19, HOMG5 Claudin 19 CLDN19 149461 ENSG00000164007 Hypomagnesemia 5, renal, with ocular involvement, 248190 (3), Autosomal recessive Cldn19 (MGI:3033992) -chr1 42746373 42767027 1p34 1p34.2 610339 P3H1, LEPRE1, GROS1, OI8 Prolyl 3-hydroxylase 1 P3H1 64175 ENSG00000117385 Osteogenesis imperfecta, type VIII, 610915 (3), Autosomal recessive P3h1 (MGI:1888921) -chr1 42807051 42817396 1p34.2 1p34.2 617853 SVBP, CCDC23, NEDAHM Small vasohibin-binding protein SVBP 374969 ENSG00000177868 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 (3), Autosomal recessive Svbp (MGI:1916466) -chr1 42817121 42844990 1p34 1p34.2 609017 ERMAP, SC, RD Erythroblast membrane-associated protein ERMAP 114625 ENSG00000164010 [Blood group, Scianna system], 111750 (3); [Blood group, Radin], 111620 (3) Ermap (MGI:1349816) -chr1 42925352 42958867 1p34.2 1p34.2 138140 SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN Solute carrier family 2 (facilitated glucose transporter), member 1 SLC2A1 6513 ENSG00000117394 probably in 1p33 Dystonia 9, 601042 (3), Autosomal dominant; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3), Autosomal dominant, Autosomal recessive; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3), Autosomal dominant; GLUT1 deficiency syndrome 2, childhood onset, 612126 (3), Autosomal dominant Slc2a1 (MGI:95755) -chr1 43164173 43172569 1p35-p33 1p34.2 614443 EBNA1BP2, EBP2 EBNA1-binding protein 2 EBNA1BP2 10969 ENSG00000117395 Ebna1bp2 (MGI:1916322) -chr1 43172329 43254357 1p34.2 1p34.2 614259 WDR65 WD repeat-containing protein 65 CFAP57 149465 ENSG00000243710 Cfap57 (MGI:2686209) -chr1 43300953 43323107 1p34-p33 1p34.2 600222 TIE, JTK14, TIE1, LMPHM11 Tyrosine kinase with immunoglobulin and epidermal growth factor homology domains TIE1 7075 ENSG00000066056 Lymphatic malformation 11, 619401 (3), Autosomal dominant Tie1 (MGI:99906) -chr1 43336874 43354465 1p34 1p34.2 159530 MPL, TPOR, MPLV, THCYT2 MPL protooncogene, thrombopoietin receptor MPL 4352 ENSG00000117400 Myelofibrosis with myeloid metaplasia, somatic, 254450 (3); Thrombocythemia 2, 601977 (3), Somatic mutation, Autosomal dominant; Thrombocytopenia, congenital amegakaryocytic, 604498 (3), Autosomal recessive Mpl (MGI:97076) -chr1 43358980 43363202 1p34.2-p33 1p34.2 603618 CDC20 Cell division cycle 20 CDC20 991 ENSG00000117399 pseudogene on 9q13-q21 Cdc20 (MGI:1859866) -chr1 43363400 43368010 1p34.2 1p34.2 611813 ELOVL1, SSC1, IKSHD Elongation of very long chain fatty acids-like 1 ELOVL1 64834 ENSG00000066322 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 (3), Autosomal dominant Elovl1 (MGI:1858959) -chr1 43383916 43389799 1p34.2 1p34.2 607956 MED8 Mediator complex subunit 8 MED8 112950 ENSG00000159479 Med8 (MGI:1915269) -chr1 43389883 43454246 1p34.2 1p34.2 615463 SZT2, KIAA0467, DEE18 SZT2 subunit of KICSTOR complex SZT2 23334 ENSG00000198198 Developmental and epileptic encephalopathy 18, 615476 (3), Autosomal recessive Szt2 (MGI:3033336) -chr1 43450606 43454240 1p34.2 1p34.2 619128 HYI Hydroxypyruvate isomerase HYI 81888 ENSG00000178922 Hyi (MGI:1915430) -chr1 43522237 43623665 1p32 1p34.2 179590 PTPRF, LAR, BNAH2 Protein tyrosine phosphatase, receptor type, f polypeptide PTPRF 5792 ENSG00000142949 mutation identified in 1 BNAH2 family ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3), Autosomal recessive Ptprf (MGI:102695) -chr1 43650148 43705517 1p34.1 1p34.2-p34.1 609764 KDM4A, JMJD2A, JHDM3A, KIAA0677 Lysine demethylase 4A KDM4A 9682 ENSG00000066135 Kdm4a (MGI:2446210) -chr1 43700000 60800000 1p34-p32 613545 MACST Macrostomia 100529231 max lod at D1S2797 Macrostomia, 613545 (2) -chr1 43700000 60800000 1p34.1-p32 178300 PTOS1 Ptosis, congenital 1, autosomal dominant 5765 Ptosis, hereditary congenital, 1, 178300 (2), Autosomal dominant -chr1 43707464 43931163 1p34.1 1p34.1 606494 ST3GAL3, SIAT6, ST3GALII, MRT12, DEE15 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ST3GAL3 6487 ENSG00000126091 Developmental and epileptic encephalopathy 15, 615006 (3), Autosomal recessive; Intellectual developmental disorder, autosomal recessive 12, 611090 (3), Autosomal recessive St3gal3 (MGI:1316659) -chr1 43933800 43937239 1p34.1 1p34.1 603886 ARTN Artemin ARTN 9048 ENSG00000117407 Artn (MGI:1333791) -chr1 43946851 43968021 1p34.1 1p34.1 610411 IPO13, IMP13, KIAA0724, RANBP13 Importin 13 IPO13 9670 ENSG00000117408 Ipo13 (MGI:2385205) -chr1 43969996 43973368 1p34 1p34.1 603456 DPH2, DPH2L2 Diphthamide biosynthesis protein 2 DPH2 1802 ENSG00000132768 Dph2 (MGI:1914978) -chr1 43974959 43978294 1p32.3 1p34.1 603717 ATP6V0B, ATP6F ATPase, H+ transporting, V0 subunit b ATP6V0B 533 ENSG00000117410 Atp6v0b (MGI:1890510) -chr1 43979209 43991170 1p33-p32 1p34.1 604013 B4GALT2 Beta-1,4-galactosyltransferase 2 B4GALT2 8704 ENSG00000117411 B4galt2 (MGI:1858493) -chr1 43996482 44031461 1p33 1p34.1 601019 SLC6A9, GLYT1, GCENSG Solute carrier family 6 (neurotransmitter transporter, glycine), member 9 SLC6A9 6536 ENSG00000196517 Glycine encephalopathy with normal serum glycine, 617301 (3), Autosomal recessive Slc6a9 (MGI:95760) -chr1 44043926 44135139 1p34.1 1p34.1 609602 KLF717, ZLF393 Kruppel-like factor 17 KLF17 128209 ENSG00000171872 Klf17 (MGI:2181068) -chr1 44213470 44220672 1p34.1 1p34.1 605077 DNMAP1, DMAP1 DNMT1-associated protein 1 DMAP1 55929 ENSG00000178028 Dmap1 (MGI:1913483) -chr1 44221069 44355297 1p32 1p34.1 609917 PRNPIP, PINT1 Prion protein-interacting protein ERI3 79033 ENSG00000117419 Eri3 (MGI:2153887) -chr1 44405159 44651723 1p34.1 1p34.1 616136 RNF220 RING finger protein 220 RNF220 55182 ENSG00000187147 Rnf220 (MGI:1913993) -chr1 44739703 44767766 1p34.1 1p34.1 604538 KIF2C, KNSL6, MCAK Kinesin family, member 2C KIF2C 11004 ENSG00000142945 Kif2c (MGI:1921054) -chr1 44775539 44778778 1p34.1-p32 1p34.1 600357 RPS8 Ribosomal protein S8 RPS8 6202 ENSG00000142937 Rps8,Gm15501 (MGI:98166,MGI:3704296) -chr1 44782144 44792827 1p33-p32.3 1p34.1 607336 BEST4, VMD2L2 Bestrophin 4 BEST4 266675 ENSG00000142959 -chr1 44799951 44805994 1p34.1 1p34.1 602913 PLK3, CNK, PRK Polo-like kinase 3 PLK3 1263 ENSG00000173846 previously assigned to 8p21 by FISH Plk3 (MGI:109604) -chr1 44805892 44807350 1p34.1 1p34.1 611713 TCTEX1D4 TCTEX1 domain-containing 4 DYNLT4 343521 ENSG00000188396 Dynlt4 (MGI:3045358) -chr1 44819844 44843252 1p32 1p34.1 603673 PTCH2 Patched 2 PTCH2 8643 ENSG00000117425 Medulloblastoma, somatic, 155255 (3); Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Basal cell carcinoma, somatic, 605462 (3) Ptch2 (MGI:1095405) -chr1 44850521 44986640 1p34.1 1p34.1 606273 EIF2B3 Eukaryotic translation initiation factor 2B, subunit 3 EIF2B3 8891 ENSG00000070785 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive Eif2b3 (MGI:1313286) -chr1 45002546 45011323 1p34.1 1p34.1 618638 HECTD3 HECT domain-containing E3 ugiquitin protein ligase 3 HECTD3 79654 ENSG00000126107 Hectd3 (MGI:1923858) -chr1 45012253 45015574 1p34 1p34.1 613521 UROD Uroporphyrinogen decarboxylase UROD 7389 ENSG00000126088 Porphyria, hepatoerythropoietic, 176100 (3), Autosomal dominant, Autosomal recessive; Porphyria cutanea tarda, 176100 (3), Autosomal dominant, Autosomal recessive Urod (MGI:98916) -chr1 45326894 45328709 1p34.1 1p34.1 618994 HPDL, NEDSWMA, SPG83 4-hydroxyphenylpyruvate dioxygenase-like HPDL 84842 ENSG00000186603 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, 619026 (3), Autosomal recessive; Spastic paraplegia 83, autosomal recessive, 619027 (3), Autosomal recessive Hpdl (MGI:2444646) -chr1 45329241 45340446 1p34.3-p32.1 1p34.1 604933 MUTYH, MYH mutY DNA glycosylase MUTYH 4595 ENSG00000132781 Adenomas, multiple colorectal, 608456 (3), Autosomal recessive; Gastric cancer, somatic, 613659 (3) Mutyh (MGI:1917853) -chr1 45339750 45343972 1p34.1 1p34.1 613931 TOE1, PCH7 Target of EGR1 TOE1 114034 ENSG00000132773 Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive Toe1 (MGI:1915526) -chr1 45343882 45491162 1p32 1p34.1 604746 TESK2 Testis-associated actin-modeling kinase 2 TESK2 10420 ENSG00000070759 Tesk2 (MGI:2385204) -chr1 45500228 45513381 1p34.1 1p34.1 609831 MMACHC Metabolism of cobalamin associated C MMACHC 25974 ENSG00000132763 Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3), Autosomal recessive Mmachc (MGI:1914346) -chr1 45511050 45522889 1p34.1 1p34.1 176763 PRDX1, PRXI, PAGA, NKEFA Peroxiredoxin 1 PRDX1 5052 ENSG00000117450 pseudogene PAGB on 9p22 Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3), Autosomal recessive Prdx1 (MGI:99523) -chr1 45550778 45570050 1p33-p32 1p34.1 103830 AKR1A1, ALR Aldo-keto reductase family 1, member A1 (aldehyde reductase) AKR1A1 10327 ENSG00000117448 Akr1a1 (MGI:1929955) -chr1 45584040 45618892 1p34.1 1p34.1 603185 NASP Nuclear autoantigenic sperm protein NASP 4678 ENSG00000132780 Nasp (MGI:1355328) -chr1 45694323 45750804 1p32-p22 1p34.1 147485 IPP Intracisternal A particle-promoted polypeptide IPP 3652 ENSG00000197429 Ipp (MGI:96581) -chr1 45786991 46036123 1p34.1 1p34.1 612257 MAST2, MAST205, KIAA0807 Microtubule-associated serine/threonine kinase 2 MAST2 23139 ENSG00000086015 Mast2 (MGI:894676) -chr1 46040139 46174900 1p34.2 1p34.1 606076 PIK3R3 Phosphatidylinositol 3-kinase, regulatory, 3 PIK3R3 8503 ENSG00000117461 P3r3urf,Pik3r3 (MGI:1914573,MGI:109277) -chr1 46175086 46196488 1p34.1 1p34.1 613170 TSPAN1, NET1 Tetraspanin 1 TSPAN1 10103 ENSG00000117472 Tspan1 (MGI:1914055) -chr1 46188682 46220304 1p34-p33 1p34.1 606822 POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76, LGMDR15 Protein 0-mannose beta-1,2-N-acetylglucosaminyltransferase POMGNT1 55624 ENSG00000085998 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3), Autosomal recessive; Retinitis pigmentosa 76, 617123 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3), Autosomal recessive Pomgnt1 (MGI:1915523) -chr1 46203333 46221255 1p34.1 1p34.1 616129 LURAP1, LRAP35A Leucine-rich adaptor protein 1 LURAP1 541468 ENSG00000171357 Lurap1 (MGI:1915325) -chr1 46247687 46278476 1p32 1p34.1 603615 RAD54L, HR54, HRAD54 RAD54 like RAD54L 8438 ENSG00000085999 {Breast cancer, invasive ductal}, 114480 (3), Somatic mutation, Autosomal dominant; Adenocarcinoma, colonic, somatic (3); Lymphoma, non-Hodgkin, somatic, 605027 (3) Rad54l (MGI:894697) -chr1 46277461 46303615 1p34.1-p33 1p34-p33 618753 LRRC41, MUF1 Leucine-rich repeat-containing protein 41 LRRC41 10489 ENSG00000132128 Lrrc41 (MGI:2441984) -chr1 46300000 60800000 1p33-p32 612728 BMND14 Bone mineral density quantitative trait locus 14 100294718 associated with rs17131547 [Bone mineral density QTL 14], 612728 (2) -chr1 46300000 50200000 1p33 618954 CYP4Z2P Cytochrome P450, family 4, subfamily Z, member 2, pseudogene CYP4Z2P 163720 ENSG00000154198 -chr1 46300000 84400000 1p33-p31.1 613606 FWS Forsythe-Wakeling syndrome 100529224 between rs2354462 and rs718883 Forsythe-Wakeling syndrome, 613606 (2), Autosomal recessive -chr1 46300000 50200000 1p33 613857 OFC13 Orofacial cleft 13 100653367 associated with rs3827730 Orofacial cleft 13, 613857 (2), Autosomal dominant -chr1 46300000 50200000 1p33 618377 PAINQTL1 Pain sensitivity quantitative trait locus 1 deletion identified in 1 PAINQTL1 family ?Pain sensitivity QTL1, 618377 (4), Autosomal dominant -chr1 46300000 50200000 1p33 616392 SKINTL, SKINTP SKINT1-like pseudogene SKINT1L 391037 -chr1 46303697 46316775 1p34.1 1p33 613844 UQCRH Ubiquinol-cytochrome c reductase hinge protein UQCRH 7388 ENSG00000173660 pseudogene on 1p36 Uqcrh (MGI:1913826) -chr1 46340806 46385198 1p33 1p33 615394 NSUN4 NOP2/SUN RNA methyltransferase family, member 4 NSUN4 387338 ENSG00000117481 Nsun4 (MGI:1919431) -chr1 46394316 46413844 1p33 1p33 602935 FAAH Fatty acid amide hydrolase FAAH 2166 ENSG00000117480 {Drug addiction, susceptibility to}, 606581 (3) Faah (MGI:109609) -chr1 46433826 46445701 1p33 1p33 618375 FAAHP1, FAAHOUT, LINC00505 Fatty acid amide hydrolase pseudogene 1 FAAHP1 729041 -chr1 46489835 46516215 1p33 1p33 607410 DMBX1, OTX3 Diencephalon/mesencephalon homeobox 1 DMBX1 127343 ENSG00000197587 Dmbx1 (MGI:2153518) -chr1 46545640 46551646 1p33 1p33 611455 KNCN, KINO, L5 Kinocilin KNCN 148930 ENSG00000162456 Kncn (MGI:3614952) -chr1 46557406 46604310 1p33 1p33 606724 MKNK1, MNK1 Mitogen-activated protein kinase-interacting serine/threonine kinase 1 MKNK1 8569 ENSG00000079277 Mknk1 (MGI:894316) -chr1 46799045 46819412 1p34-p12 1p33 124075 CYP4B1 Cytochrome P450, subfamily IVB, polypeptide 1 CYP4B1 1580 ENSG00000142973 Cyp4b1 (MGI:103225) -chr1 46929176 46941475 1p33 1p33 601310 CYP4A11 Cytochrome P450, subfamily IVA, polypeptide 11 CYP4A11 1579 ENSG00000187048 Cyp4a12a,Cyp4a29,Cyp4a12b,Cyp4a14,Cyp4a30b,Cyp4a32,Cyp4a10,Cyp4a31 (MGI:3611747,MGI:88611,MGI:3717148,MGI:88612,MGI:3717145,MGI:3028580,MGI:1096550,MGI:3717143) -chr1 46961363 47055431 1p33 1p33 614999 CYP4X1, CYPIVX1 Cytochrome P450, family 4, subfamily X, polypeptide 1 CYP4X1 260293 ENSG00000186377 Cyp4x1 (MGI:1932403) -chr1 47055524 47118319 1p33 1p33 618953 CYP4Z1 Cytochrome P450, family 4, subfamily Z, member 1 CYP4Z1 199974 ENSG00000186160 Cyp4x1 (MGI:1932403) -chr1 47137440 47149737 1p33 1p33 615341 CYP4A22 Cytochrome P450, family 4, subfamily A, polypeptide 22 CYP4A22 284541 ENSG00000162365 Cyp4a12a,Cyp4a29,Cyp4a12b,Cyp4a14,Cyp4a30b,Cyp4a32,Cyp4a10,Cyp4a31 (MGI:3611747,MGI:88611,MGI:3717148,MGI:88612,MGI:3717145,MGI:3028580,MGI:1096550,MGI:3717143) -chr1 47183581 47190035 1p33 1p33 607178 PDZK1IP1, MAP17 PDZK1-interacting protein 1 PDZK1IP1 10158 ENSG00000162366 near SLC in human, mouse, chicken, zebrafish Pdzk1ip1 (MGI:1914432) -chr1 47216289 47232388 1p32 1p33 187040 TAL1, TCL5, SCL T-cell acute lymphocytic leukemia-1 TAL1 6886 ENSG00000162367 proximal to MYCL1 Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) Tal1 (MGI:98480) -chr1 47250138 47314895 1p33 1p33 181590 STIL, SIL, MCPH7 SCL/TAL1-interrupting locus STIL 6491 ENSG00000123473 within about 250kb of SCL Microcephaly 7, primary, autosomal recessive, 612703 (3), Autosomal recessive Stil (MGI:107477) -chr1 47333789 47378838 1p32 1p33 191710 CMPK1, CMPK, UMPK, UMK, CMK Cytidine monophosphate (UMP-CMP) kinase 1, cytosolic CMPK1 51727 ENSG00000162368 Cmpk1 (MGI:1913838) -chr1 47416284 47418051 1p32 1p33 601094 FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11 Forkhead box E3 FOXE3 2301 ENSG00000186790 Anterior segment dysgenesis 2, multiple subtypes, 610256 (3), Autosomal recessive; {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3), Autosomal dominant; Cataract 34, multiple types, 612968 (3) Foxe3 (MGI:1353569) -chr1 47438043 47440690 1p34-p32 1p33 602211 FOXD2, FKHL17, FREAC9 Forkhead box D2 FOXD2 2306 ENSG00000186564 Foxd2 (MGI:1347471) -chr1 47760527 47997384 1p33 1p33 614913 TRABD2B, TIKI2 TRAB domain-containing protein 2B TRABD2B 388630 ENSG00000269113 Trabd2b (MGI:3650152) -chr1 48258642 48472203 1p33 1p33 613947 SPATA6, SRF1, HASH Spermatogenesis-associated protein 6 SPATA6 54558 ENSG00000132122 Spata6 (MGI:1915196) -chr1 48520156 50023953 1p33 1p33 616476 AGBL4, CCP6 ATP/GTP-binding protein-like 4 AGBL4 84871 ENSG00000186094 Agbl4 (MGI:1918244) -chr1 50048054 50203771 1p34 1p-p 168360 ELAVL4, HUD, PNEM ELAV-like RNA binding protein 4 (Hu antigen D) ELAVL4 1996 ENSG00000162374 Elavl4 (MGI:107427) -chr1 50417549 50423442 1p33-p32.3 1p32.3 614804 DMRTA2 Doublesex- and MAB3-related transcription factor A2 DMRTA2 63950 ENSG00000142700 Dmrta2 (MGI:2653629) -chr1 50437027 50960266 1p33 1p32.3 604460 FAF1, HFAF1 Fas-associated factor 1 FAF1 11124 ENSG00000185104 Faf1 (MGI:109419) -chr1 50968705 50974633 1p32 1p32.3 603369 CDKN2C, INK4C Cyclin-dependent kinase inhibitor 2C CDKN2C 1031 ENSG00000123080 Cdkn2c (MGI:105388) -chr1 51236272 51273446 1p32-p31 1p32.3 612598 RNF11 Ring finger protein 11 RNF11 26994 ENSG00000123091 Rnf11 (MGI:1352759) -chr1 51354262 51519274 1p32 1p32.3 600051 EPS15 Epidermal growth factor receptor pathway substrate-15 EPS15 2060 ENSG00000085832 Eps15 (MGI:104583) -chr1 51617083 51789218 1p34.2-p32.2 1p32.3 606737 OSBPL9, ORP9 Oxysterol-binding protein-like protein 9 OSBPL9 114883 ENSG00000117859 Osbpl9 (MGI:1923784) -chr1 51789209 51878726 1p32.2 1p32.3 602651 NRD1 Nardilysin (N-arginine dibasic convertase) NRDC 4898 ENSG00000078618 Nrd1 (MGI:1201386) -chr1 51907955 51990699 1p32-p31 1p32.3 179510 RAB3B Brain antigen RAB3B RAB3B 5865 ENSG00000169213 Rab3b (MGI:1917158) -chr1 52020130 52056170 1p32.3 1p32.3 609448 TXNDC12, TLP19, ERP18 Thioredoxin domain-containing protein 12 TXNDC12 51060 ENSG00000117862 Txndc12,Aifm1 (MGI:1913323,MGI:1349419) -chr1 52142000 52348663 1p32.3 1p32.3 603755 ZFYVE9, MADHIP, SARA Zinc finger, FYVE domain containing 9 ZFYVE9 9372 ENSG00000157077 Zfyve9 (MGI:2652838) -chr1 52372828 52404445 1p32 1p32.3 601902 ORC1, ORC1L Origin recognition complex, subunit 1 ORC1 4998 ENSG00000085840 Meier-Gorlin syndrome 1, 224690 (3), Autosomal recessive Orc1 (MGI:1328337) -chr1 52404563 52420835 1p32.3 1p32.3 617031 PRPF38A, PRP38A Pre-mRNA processing factor 38A PRPF38A 84950 ENSG00000134748 Prpf38a (MGI:1916962) -chr1 52423274 52553462 1q23.3 1p32.3 613692 TUT4, ZCCHC11, KIAA0191 Terminal uridylyl transferase 4 TUT4 23318 ENSG00000134744 Tut4 (MGI:2445126) -chr1 52602370 52609050 1p32 1p32.3 615784 GPX7, NPGPX Glutathione peroxidase 7 GPX7 2882 ENSG00000116157 Gpx7 (MGI:1914555) -chr1 52684448 52698346 1p32.3 1p32.3 615623 COA7, RESA1, SELRC1, C1orf163, SCAN3 Cytochrome C oxidase assembly factor COA7 65260 ENSG00000162377 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 (3), Autosomal recessive Coa7 (MGI:1917143) -chr1 52726452 52827335 1p32.3 1p32.3 618673 ZYG11B ZYG11 family, member B, cell cycle regulator ZYG11B 79699 ENSG00000162378 Zyg11b (MGI:2685277) -chr1 52842735 52894997 1p32.3 1p32.3 618675 ZYG11A ZYG11 family, member A, cell cycle regulator ZYG11A 440590 ENSG00000203995 Zyg11a (MGI:2446208) -chr1 52927275 53051697 1p32 1p32.3 184755 SCP2 Sterol carrier protein-2 SCP2 6342 ENSG00000116171 mutation identified in 1 LKDMN patient ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3), Autosomal recessive Scp2 (MGI:98254) -chr1 53062197 53085501 1p32.3 1p32.3 608661 PODN Podocan PODN 127435 ENSG00000174348 Podn (MGI:2674939) -chr1 53087182 53142637 1p32.3 1p32.3 604471 SLC1A7 Solute carrier family 1 (glutamate transporter), member 7 SLC1A7 6512 ENSG00000162383 Slc1a7 (MGI:2444087) -chr1 53196823 53214196 1p32 1p32.3 600650 CPT2, IIAE4 Carnitine palmitoyltransferase II CPT2 1376 ENSG00000157184 formerly at 1p13 {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3), Autosomal dominant, Autosomal recessive; CPT II deficiency, infantile, 600649 (3), Autosomal recessive; CPT II deficiency, lethal neonatal, 608836 (3), Autosomal recessive; CPT II deficiency, myopathic, stress-induced, 255110 (3), Autosomal dominant, Autosomal recessive Cpt2 (MGI:109176) -chr1 53226899 53238517 1p34-p33 1p32.3 602603 MAGOH Mago homolog, exon junction complex subunit MAGOH 4116 ENSG00000162385 Magoh (MGI:1330312) -chr1 53242363 53328069 1p34 1p32.3 602600 LRP8, APOER2, MCI1 Low density lipoprotein receptor-related protein 8 (Apolipoprotein E receptor 2) LRP8 7804 ENSG00000157193 {Myocardial infarction, susceptibility to}, 608446 (3) Lrp8 (MGI:1340044) -chr1 53459398 53467487 1p32.2 1p32.3 614805 DMRTB1 Doublesex- and MAB3-related transcription factor B1 DMRTB1 63948 ENSG00000143006 Dmrtb1 (MGI:1927125) -chr1 53506236 53739170 1p32.3 1p32.3 610378 GLIS1 Glis family zinc finger protein 1 GLIS1 148979 ENSG00000174332 Glis1 (MGI:2386723) -chr1 53765477 53838295 1p32.3 1p32.3 610115 TMEM48, NDC1 Transmembrane protein 48 NDC1 55706 ENSG00000058804 Ndc1 (MGI:1920037) -chr1 53851732 53889796 1p32.3 1p32.3 617521 YIPF1 YIP1 domain family, member 1 YIPF1 54432 ENSG00000058799 Yipf1 (MGI:1915532) -chr1 53894186 53911085 1p33-p32 1p32.3 147892 DIO1, TXDI1 Deiodinase, iodothyronine, type I DIO1 1733 ENSG00000211452 Dio1 (MGI:94896) -chr1 54026680 54053572 1p32.3 1p32.3 617084 TMEM59, DCF1 Transmembrane protein 59 TMEM59 9528 ENSG00000116209 Tmem59 (MGI:1929278) -chr1 54132686 54153180 1p32 1p32.3 612320 CDCP2 Cub domain-containing protein 2 CDCP2 200008 ENSG00000157211 ?associated with PARK10 Cdcp2 (MGI:3045328) -chr1 54200166 54225488 1p32.1 1p32.3 611843 MRPL37 Mitochondrial ribosomal protein L37 MRPL37 51253 ENSG00000116221 Mrpl37 (MGI:1926268) -chr1 54225431 54413489 1p31.3 1p32.3 607390 SSBP3 Single-stranded DNA-binding protein 3 SSBP3 23648 ENSG00000157216 Ssbp3 (MGI:1919725) -chr1 54548227 54639191 1p32.3 1p32.3 606803 ACOT11, THEA, BFIT, BFIT1, BFIT2, KIAA0707 Acyl-CoA thioesterase 11 ACOT11 26027 ENSG00000162390 Acot11 (MGI:1913736) -chr1 54715860 54742656 1p31.3 1p32.3 606753 TTC4 Tetratricopeptide repeat domain 4 TTC4 7268 ENSG00000243725 pseudogene on 7p14-p13 Ttc4 (MGI:1919604) -chr1 54756897 54764522 1p32.2 1p32.3 612036 PARS2, DEE75 Prolyl-tRNA synthetase 2 PARS2 25973 ENSG00000162396 Developmental and epileptic encephalopathy 75, 618437 (3), Autosomal recessive Pars2 (MGI:2386296) -chr1 54806062 54842251 1p32.3 1p32.3 616446 LEXM, C1orf177, LEM Lymphocyte expansion molecule LEXM 163747 ENSG00000162398 Lexm (MGI:2681853) -chr1 54849626 54887194 1p33-p31.1 1p32.3 606418 DHCR24, KIAA0018 24-dehydrocholesterol reductase DHCR24 1718 ENSG00000116133 Desmosterolosis, 602398 (3), Autosomal recessive Dhcr24 (MGI:1922004) -chr1 54998932 55017171 1p31 1p32.3 606412 BSND Barttin BSND 7809 ENSG00000162399 Sensorineural deafness with mild renal dysfunction, 602522 (3), Autosomal recessive; Bartter syndrome, type 4a, 602522 (3), Autosomal recessive Bsnd (MGI:2153465) -chr1 55039547 55064851 1p32.3 1p32.3 607786 PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1, FHCL3 Proprotein convertase, subtilisin/kexin-type, 9 PCSK9 255738 ENSG00000169174 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3), Autosomal dominant; Hypercholesterolemia, familial, 3, 603776 (3), Autosomal dominant Pcsk9 (MGI:2140260) -chr1 55066358 55215373 1p32.3 1p32.3 610569 USP24, KIAA1057 Ubiquitin-specific protease 24 USP24 23358 ENSG00000162402 Usp24 (MGI:1919936) -chr1 56494760 56579562 1p32.2 1p32.2 607125 PLPP3, PPAP2B Phospholipid phosphatase 3 PLPP3 8613 ENSG00000162407 Plpp3 (MGI:1915166) -chr1 56645313 56715334 1p31 1p32.2 600497 PRKAA2, AMPK Protein kinase, AMP-activated, alpha-2 catalytic subunit PRKAA2 5563 ENSG00000162409 Prkaa2 (MGI:1336173) -chr1 56718788 56831985 1p32.2 1p32.2 618478 FYB2, ARAP, C1orf168 FYN-binding protein 2 FYB2 199920 ENSG00000187889 Fyb2 (MGI:2685466) -chr1 56854795 56918222 1p32 1p32.2 120950 C8A Complement component-8, alpha polypeptide C8A 731 ENSG00000157131 C8 deficiency, type I, 613790 (3), Autosomal recessive C8a (MGI:2668347) -chr1 56929206 56974382 1p32 1p32.2 120960 C8B Complement component-8, beta polypeptide C8B 732 ENSG00000021852 C8 deficiency, type II, 613789 (3), Autosomal recessive C8b (MGI:88236) -chr1 56994777 58546725 1p32-p31 1p32.2-p32.1 603448 DAB1, SCA37 DAB adaptor protein 1 DAB1 1600 ENSG00000173406 Spinocerebellar ataxia 37, 615945 (3), Autosomal dominant Dab1 (MGI:108554) -chr1 58480718 58546725 1p32.3-p32.1 1p32.2-p32.1 617081 OMA1, MPRP1 OMA1 zinc metallopeptidase OMA1 115209 ENSG00000162600 Oma1 (MGI:1914263) -chr1 58500000 60800000 1p32 606852 PARK10, AAOPD Parkinson disease 10 170534 max lod at D1S2652; ?associated with CDCP2 {Parkinson disease 10}, 606852 (2) -chr1 58500000 60800000 1p32 613548 STQTL23 Stature quantitative trait locus 23 100529222 linked to rs628667 {Stature QTL 23}, 613548 (2) -chr1 58575432 58577251 1p32 1p32.1 137290 TACSTD2, TROP2, M1S1 Tumor-associated calcium signal transducer 2 TACSTD2 4070 ENSG00000184292 Corneal dystrophy, gelatinous drop-like, 204870 (3), Autosomal recessive Tacstd2 (MGI:1861606) -chr1 58654738 58700090 1p32.1 1p32.1 612176 MYSM1, 2ADUB, KIAA1915, BMFS4 MYB-like, SWIRM, and MPN domains-containing protein 1 MYSM1 114803 ENSG00000162601 Bone marrow failure syndrome 4, 618116 (3), Autosomal recessive Mysm1 (MGI:2444584) -chr1 58780790 58784046 1p32-p31 1p32.1 165160 JUN Jun proto-oncogene, AP-1 transcription factor subunit JUN 3725 ENSG00000177606 Jun (MGI:96646) -chr1 59296404 59762729 1p32.1 1p32.1 611370 FGGY, FLJ10986 FGGY carbohydrate kinase domain-containing protein FGGY 55277 ENSG00000172456 Fggy (MGI:1922828) -chr1 59814921 59876369 1p32.1 1p32.1 607820 HOOK1, HK1 Hook microtubule tethering protein 1 HOOK1 51361 ENSG00000134709 Hook1 (MGI:1925213) -chr1 59893307 59926772 1p31.3-p31.2 1p32.1 601258 CYP2J2 Cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase), polypeptide 2 CYP2J2 1573 ENSG00000134716 Cyp2j5,Cyp2j6,Cyp2j9,Cyp2j8,Cyp2j13,Cyp2j11,Cyp2j12 (MGI:1270149,MGI:1270148,MGI:1921769,MGI:2140224,MGI:2449817,MGI:2385197,MGI:3717097) -chr1 59990393 60073769 1p32.1 1p32.1 618860 C1orf87, CREF Chromosome 1 open reading frame 87 C1orf87 127795 ENSG00000162598 Gm12695 (MGI:3650206) -chr1 60800000 68500000 1p31.3 164750 OPHLC, C1DUPp31.3, DUP1p31.3 Omphalocele due to duplication of 1p31.3 duplication of 710kb at 1p31.3 Omphalocele due to duplication of 1p31.3, 164750 (4), Isolated cases -chr1 60800000 84400000 1p31.3-p31.1 612293 POROK5, DSAP3 Porokeratosis 5, disseminated superficial actinic 100190982 between D1S438 and D1S464 Porokeratosis 5, disseminated superficial actinic, 612293 (2) -chr1 61077226 61462787 1p31.3-p31.2 1p31.3 600727 NFIA, BRMUTD Nuclear factor I/A NFIA 4774 ENSG00000162599 Brain malformations with or without urinary tract defects, 613735 (3), Autosomal dominant Nfia (MGI:108056) -chr1 61681045 61725140 1p31.3 1p31.3 610080 TM2D1, BBP TM2 domain-containing protein 1 TM2D1 83941 ENSG00000162604 Tm2d1 (MGI:2137022) -chr1 61742476 62163914 1p31.3 1p31.3 603199 PATJ, INADL PALS1-associated tight junction protein PATJ 10207 ENSG00000132849 Patj (MGI:1277960) -chr1 62236164 62319433 1p31.3 1p31.3 614612 KANK4 KN motif- and ankyrin repeat domain-containing protein 4 KANK4 163782 ENSG00000132854 Kank4 (MGI:3043381) -chr1 62436394 62451803 1p32.1-p31.3 1p31.3 603478 USP1 Ubiquitin-specific protease 1 USP1 7398 ENSG00000162607 Usp1 (MGI:2385198) -chr1 62454725 62688385 1p31.3 1p31.3 615730 DOCK7, KIAA1771, DEE23 Dedicator of cytokinesis 7 DOCK7 85440 ENSG00000116641 Developmental and epileptic encephalopathy 23, 615859 (3), Autosomal recessive Dock7 (MGI:1914549) -chr1 62597519 62606312 1p31 1p31.3 604774 ANGPTL3, ANGPT5, FHBL2 Angiopoietin-like 3 ANGPTL3 27329 ENSG00000132855 Hypobetalipoproteinemia, familial, 2, 605019 (3), Autosomal recessive Angptl3 (MGI:1353627) -chr1 62783764 62865515 1p31.3 1p31.3 611339 ATG4C, APG4C Autophagy related 4C cysteine peptidase ATG4C 84938 ENSG00000125703 Atg4c (MGI:2651854) -chr1 63322566 63325127 1p31 1p31.3 611539 FOXD3, AIS1, VAMAS2 Forkhead box D3 FOXD3 27022 ENSG00000187140 {Autoimmune disease, susceptibility to, 1}, 607836 (3), Autosomal dominant Foxd3 (MGI:1347473) -chr1 63367626 63438552 1p22.3 1p31.3 604566 ALG6, CDG1C ALG6 alpha-1,3-glucosyltransferase ALG6 29929 ENSG00000088035 Congenital disorder of glycosylation, type Ic, 603147 (3), Autosomal recessive Alg6 (MGI:2444031) -chr1 63440769 63529394 1p31.3 1p31.3 605494 ITGB3BP, NRIF3 Integrin, beta-3, binding protein of ITGB3BP 23421 ENSG00000142856 Itgb3bp (MGI:1914983) -chr1 63523320 63585400 1p31.3 1p31.3 617632 EFCAB7, KIAA1799 EF-hand calcium-binding domain-containing protein 7 EFCAB7 84455 ENSG00000203965 Efcab7 (MGI:2385199) -chr1 63593410 63660244 1p31 1p31.3 171900 PGM1, GSD14, CDG1T Phosphoglucomutase-1 PGM1 5236 ENSG00000079739 distal to ACADM; formerly 1p22.1 Congenital disorder of glycosylation, type It, 614921 (3), Autosomal recessive Pgm1 (MGI:97565) -chr1 63774016 64181497 1p31.3 1p31.3 602336 ROR1, NTRKR1 Receptor tyrosine kinase-like orphan receptor 1 ROR1 4919 ENSG00000185483 mutation identified in 1 DFNB108 family ?Deafness, autosomal recessive 108, 617654 (3), Autosomal recessive Ror1 (MGI:1347520) -chr1 64744978 64833410 1p31.3 1p31.3 609953 RAVER2, KIAA1579 Ribonucleoprotein, PTB binding 2 RAVER2 55225 ENSG00000162437 Raver2 (MGI:2443623) -chr1 64833228 65067745 1p31.3 1p31.3 147795 JAK1, AIIDE Janus kinase 1 (a protein-tyrosine kinase) JAK1 3716 ENSG00000162434 related gene on 9p24 Autoinflammation, immune dysregulation, and eosinophilia, 618999 (3), Autosomal dominant Jak1 (MGI:96628) -chr1 65058433 65058507 1p31.3 1p31.3 612511 MIR101-1, MIRN101-1 Micro RNA 101-1 MIR101-1 406893 ENSG00000199135 another locus, MIRN101-2, on 9p24 Mir101a (MGI:2676803) -chr1 65147341 65232144 1p31.3 1p31.3 103030 AK4, AK3 Adenylate kinase 4 AK4 205 ENSG00000162433 Ak4 (MGI:87979) -chr1 65264748 65415870 1p32.1-p31.3 1p31.3 608375 DNAJC6, DJC6, KIAA0473, PARK19 DNAJ heat shock protein family (Hsp40) member C6 DNAJC6 9829 ENSG00000116675 Parkinson disease 19a, juvenile-onset, 615528 (3), Autosomal recessive; Parkinson disease 19b, early-onset, 615528 (3), Autosomal recessive Dnajc6 (MGI:1919935) -chr1 65420651 65641558 1p31 1p31.3 601007 LEPR, OBR, LEPRD Leptin receptor LEPR 3953 ENSG00000116678 Obesity, morbid, due to leptin receptor deficiency, 614963 (3), Autosomal recessive Lepr (MGI:104993) -chr1 65420667 65436006 1p31 1p31.3 613461 LEPROT, OBRGRP Leptin receptor overlapping transcript LEPROT 54741 ENSG00000213625 transcribed in same direction as LEPR Leprot (MGI:2687005) -chr1 65792509 66374578 1p31 1p31.3 600127 PDE4B, DPDE4 Phosphodiesterase-4B, cAMP-specific (dunce-like phosphodiesterase E4) PDE4B 5142 ENSG00000184588 Pde4b (MGI:99557) -chr1 66533360 66751138 1p31.3 1p31.3 611540 SGIP1 SH3-domain GRB2-like (endophilin)-interacting protein 1 SGIP1 84251 ENSG00000118473 Sgip1 (MGI:1920344) -chr1 66797739 66801275 1p31.1-p22.3 1p31.3 606413 INSL5 Insulin-like 5 INSL5 10022 ENSG00000172410 Insl5 (MGI:1346085) -chr1 66812884 66924855 1p31.3 1p31.3 619156 DNAI4, WDR78 Dynein, axonemal, intermediate chain 4 DNAI4 79819 ENSG00000152763 Dnai4 (MGI:2385328) -chr1 66924899 66988618 1p31.3 1p31.3 616848 MEIR1, KIAA1610 Mesoderm induction-early response protein 1 MIER1 57708 ENSG00000198160 Mier1 (MGI:1918398) -chr1 66999349 67054422 1p32-p31 1p31.3 610804 SLC35D1, UGTREL7, KIAA0260, SHNKND Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 SLC35D1 23169 ENSG00000116704 Schneckenbecken dysplasia, 269250 (3), Autosomal recessive Slc35d1 (MGI:2140361) -chr1 67138638 67259978 1p31.3 1p31.3 607562 IL23R, IBD17 Interleukin 23 receptor IL23R 149233 ENSG00000162594 {Inflammatory bowel disease 17, protection against}, 612261 (3); {Psoriasis, protection against}, 605606 (3) Il23r (MGI:2181693) -chr1 67307350 67398723 1p31.2 1p31.3 601642 IL12RB2 Interleukin 12 receptor, beta-2 IL12RB2 3595 ENSG00000081985 Il12rb2 (MGI:1270861) -chr1 67407809 67430401 1p31.3 1p31.3 607378 SERBP1, PAIRBP1 Serpine1 mRNA-binding protein 1 SERBP1 26135 ENSG00000142864 Serbp1 (MGI:1914120) -chr1 67685200 67688333 1p34-p12 1p31.3 126335 DDIT1, GADD45 DNA damage-inducible transcript-1 GADD45A 1647 ENSG00000116717 Gadd45a (MGI:107799) -chr1 67701474 67833466 1p31.3 1p31.3 615405 GNG12 Guanine nucleotide-binding protein, gamma 12 GNG12 55970 ENSG00000172380 Gng12 (MGI:1336171) -chr1 67832287 68202986 1p31.3 1p31.3 615406 GNG12AS1 GNG12 antisense RNA 1 GNG12-AS1 100289178 ENSG00000232284 -chr1 68045961 68050626 1p31.3 1p31.3 605193 DIRAS3, ARHI DIRAS family, GTP-binding RAS-like protein 3 DIRAS3 9077 ENSG00000162595 -chr1 68098458 68233017 1p31.3 1p31.3 611514 WLS, GPR177, EVI WNTless, Drosophila, homolog of WLS 79971 ENSG00000116729 Wls (MGI:1915401) -chr1 68428821 68450321 1p31 1p31.3 180069 RPE65, RP20, LCA2 RPE65 retinoid isomerohydrolase RPE65 6121 ENSG00000116745 Retinitis pigmentosa 20, 613794 (3), Autosomal recessive; Retinitis pigmentosa 87 with choroidal involvement, 618697 (3), Autosomal dominant; Leber congenital amaurosis 2, 204100 (3), Autosomal recessive Rpe65 (MGI:98001) -chr1 68474151 68497081 1p31.2 1p31.3 612002 DEPDC1 DEP domain-containing 1 DEPDC1 55635 ENSG00000024526 Depdc1a (MGI:1923381) -chr1 68500000 69300000 1p31.2 613008 PBC3 Biliary cirrhosis, primary, 3 100303717 associated with rs3790567 {Biliary cirrhosis, primary, 3}, 613008 (2) -chr1 69300000 84400000 1p31 601676 AIR Acute insulin response 7808 Acute insulin response, 601676 (2) -chr1 69300000 84400000 1p31 610906 ASRT4 Asthma-related traits, susceptibility to, 4 100188823 max lod at D1S2890 {Asthma-related traits, susceptibility to, 4}, 610906 (2) -chr1 69300000 106700000 1p31-p21 606215 AVSD1, AVCD Atrioventricular septal defect, susceptibility to, 1 7446 {Atrioventricular septal defect, susceptibility to, 1}, 606215 (2) -chr1 69300000 84400000 1p31 615892 OFC14 Orofacial cleft 14 103581096 Orofacial cleft 14, 615892 (2), Autosomal recessive -chr1 69300000 84400000 1p31 606787 PAOD1 Peripheral arterial occlusive disease 1 171513 Peripheral arterial occlusive disease 1, 606787 (2) -chr1 69300000 106700000 1p31.1-p21.1 609727 SPG29 Spastic paraplegia 29, autosomal dominant 619379 max lod at D1S2865 Spastic paraplegia 29, autosomal dominant, 609727 (2), Autosomal dominant -chr1 69567921 70144363 1p31.1 1p31.1 614453 LRRC7, DENSIN, KIAA1365 Leucine-rich repeat-containing protein 7 LRRC7 57554 ENSG00000033122 Lrrc7 (MGI:2676665) -chr1 69919321 69920316 1p31 1p31.1 602051 PIN1L Peptidyl-prolyl cis/trans isomerase, NIMA-interacting-like PIN1P1 5301 ENSG00000229359 ?transcribed pseudogene -chr1 70205695 70253051 1p31.1 1p31.1 602010 SRSF11, SFRS11 Splicing factor, serine/arginine-rich, 11 SRSF11 9295 ENSG00000116754 Srsf11 (MGI:1916457) -chr1 70258998 70354976 1p31.1 1p31.1 615125 ANKRD13C Ankyrin repeat domain-containing protein 13C ANKRD13C 81573 ENSG00000118454 Ankrd13c (MGI:2139746) -chr1 70354810 70368022 1p31.1 1p31.1 604372 HHLA3 Human endogenous retrovirus-H long terminal repeat-associating 3 HHLA3 11147 ENSG00000197568 -chr1 70411267 70441948 1p31.1 1p31.1 607657 CTH Cystathionine gamma-lyase CTH 1491 ENSG00000116761 previously assigned to chr.16 Cystathioninuria, 219500 (3), Autosomal recessive Cth (MGI:1339968) -chr1 70852357 71047815 1p31.2 1p31.1 176806 PTGER3, EP3 Prostaglandin E receptor 3, EP3 subtype PTGER3 5733 ENSG00000050628 Ptger3 (MGI:97795) -chr1 71063290 71081034 1p22.1-p21.3 1p31.1 604347 ZRANB2, ZNF265, ZIS Zinc finger RANBP2-type domain-containing protein 2 ZRANB2 9406 ENSG00000132485 Zranb2 (MGI:1858211) -chr1 71395942 72282538 1p31.1 1p31.1 613173 NEGR1, KILON Neuronal growth regulator 1 NEGR1 257194 ENSG00000172260 Negr1 (MGI:2444846) -chr1 74026014 74198200 1p31.1 1p31.1 617957 LRRIQ3, LRRC44 Leucine rich repeats- and IQ motif-containing protein 3 LRRIQ3 127255 ENSG00000162620 Lrriq3 (MGI:1921685) -chr1 74198241 74208701 1p31.1 1p31.1 603609 FPGT, GFPP Fucose-1-phosphate guanylyltransferase FPGT 8790 ENSG00000254685 Fpgt (MGI:1922790) -chr1 74235386 74544427 1p31.1 1p31.1 613932 TNNI3K, CCDD TNNI3-interacting kinase TNNI3K 51086 ENSG00000116783 Cardiac conduction disease with or without dilated cardiomyopathy, 616117 (3), Autosomal dominant Tnni3k (MGI:2443276) -chr1 74705469 74733114 1p31-p22 1p31.1 123691 CRYZ Crystallin, zeta (quinone reductase) CRYZ 1429 ENSG00000116791 Cryz (MGI:88527) -chr1 74733151 74766676 1p31.3 1p31.1 611245 TYW3 tRNA-wybutosine-synthesizing protein 3, S. cerevisiae, homolog of TYW3 127253 ENSG00000162623 Tyw3 (MGI:2445040) -chr1 75128433 75199453 1p31.1 1p31.1 604425 LHX8 LIM homeobox 8 LHX8 431707 ENSG00000162624 Lhx8 (MGI:1096343) -chr1 75724708 75763678 1p31 1p31.1 607008 ACADM, MCAD Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ACADM 34 ENSG00000117054 Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3), Autosomal recessive Acadm (MGI:87867) -chr1 75786193 75795089 1p31 1p31.1 179080 RABGGTB Rab geranylgeranyltransferase, beta subunit RABGGTB 5876 ENSG00000137955 Rabggtb (MGI:99537) -chr1 75796881 75913241 1p31 1p31.1 602105 MSH4 mutS homolog 4 MSH4 4438 ENSG00000057468 Msh4 (MGI:1860077) -chr1 76074733 76637338 1p31.1 1p31.1 610133 ST6GALNAC3, SIAT7C ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 ST6GALNAC3 256435 ENSG00000184005 St6galnac3 (MGI:1341828) -chr1 76867448 77069166 1p31.1 1p31.1 610134 ST6GALNAC5, SIAT7E ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6 sialyltransferase 5 ST6GALNAC5 81849 ENSG00000117069 St6galnac5 (MGI:1349471) -chr1 77088988 77219429 1p31.1 1p31.1 605087 PIGK, GPI8, NEDHCAS Phosphatidylinositol glycan, class K PIGK 10026 ENSG00000142892 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, 618879 (3), Autosomal recessive Pigk (MGI:1913863) -chr1 77281907 77559965 1p31 1p31.1 608009 AK5 Adenylate kinase 5 AK5 26289 ENSG00000154027 Ak5 (MGI:2677491) -chr1 77695986 77759851 1p31.1 1p31.1 615146 USP33, VDU1 Ubiquitin-specific protease 33 USP33 23032 ENSG00000077254 Usp33 (MGI:2159711) -chr1 77779648 77879539 1p31.1 1p31.1 616773 FAM73A, MIGA1 Miga, Drosophila, homolog of, 1 MIGA1 374986 ENSG00000180488 Miga1 (MGI:1924567) -chr1 77881347 77889538 1p31.1 1p31.1 618370 NEXAS1 NEXN antisense RNA 1 NEXN-AS1 374987 ENSG00000235927 -chr1 77888527 77948642 1p32-p31 1p31.1 613121 NEXN, NELIN, CMD1CC, CMH20 Nexilin F-actin binding protein NEXN 91624 ENSG00000162614 Cardiomyopathy, dilated, 1CC, 613122 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 20, 613876 (3), Autosomal dominant Nexn (MGI:1916060) -chr1 77944054 77979434 1p31.1 1p31.1 603444 FUBP1, FUBP, FBP Far upstream element-binding protein 1 FUBP1 8880 ENSG00000162613 Fubp1 (MGI:1196294) -chr1 77979174 78017963 1p31.1 1p31.1 611327 DNAJB4, HLJ1 DNAJ/HSP40 homolog, subfamily B, member 4 DNAJB4 11080 ENSG00000162616 Dnajb4 (MGI:1914285) -chr1 78044969 78138443 1p31.1 1p31.1 619089 GIPC2 GIPC PDZ domain-containing family, member 2 GIPC2 54810 ENSG00000137960 Gipc2 (MGI:1889209) -chr1 78490973 78540700 1p31.1 1p31.1 600563 PTGFR Prostaglandin F receptor (FP) PTGFR 5737 ENSG00000122420 Ptgfr (MGI:97796) -chr1 78620411 78646144 1p31.1 1p31.1 613975 IFI44L Interferon-induced protein 44-like IFI44L 10964 ENSG00000137959 Ifi44l (MGI:95975) -chr1 78648942 78664077 1p31.1 1p31.1 610468 IFI44, P44 Interferon-induced protein 44 IFI44 10561 ENSG00000137965 Ifi44 (MGI:2443016) -chr1 78889763 79006729 1p31.1 1p31.1 616419 ADGRL4, ETL, ELTD1 Adhesion G protein-coupled receptor L4 ADGRL4 64123 ENSG00000162618 Adgrl4 (MGI:2655562) -chr1 81306103 81993931 1p31.1 1p31.1 607018 ADGRL2, LPHN2, LPHH1, CIRL2, CL2, KIAA0786 Adhesion G protein-coupled receptor L2 ADGRL2 23266 ENSG00000117114 Adgrl2 (MGI:2139714) -chr1 83865020 83999140 1p31.1 1p31.1 618813 TTLL7 Tubulin tyrosine ligase-like 7 TTLL7 79739 ENSG00000137941 Ttll7 (MGI:1918142) -chr1 84078078 84238497 1p31.1 1p31.1 176892 PRKACB, CAFD2 Protein kinase, cAMP-dependent, catalytic, beta PRKACB 5567 ENSG00000142875 Cardioacrofacial dysplasia 2, 619143 (3) Prkacb (MGI:97594) -chr1 84398483 84415894 1p22.3 1p31.1-p22.3 608057 DNASE2B, DLAD Deoxyribonuclease II beta DNASE2B 58511 ENSG00000137976 Dnase2b (MGI:1913283) -chr1 84498324 84506580 1p22 1p22.3 600874 GNG5 Guanine nucleotide-binding protein (G protein), gamma 5 GNG5 2787 ENSG00000174021 Gng5,Gng5-ps (MGI:3783217,MGI:109164) -chr1 84549610 84574439 1p22 1p22.3 600873 CTBS, CTB Chitobiase, di-N-acetyl- CTBS 1486 ENSG00000117151 Ctbs (MGI:1921495) -chr1 84811600 84893205 1p31.1-p22.3 1p22.3 605106 LPAR3, EDG7, LPA3 Lysophosphatidic acid receptor 3 LPAR3 23566 ENSG00000171517 Lpar3 (MGI:1929469) -chr1 84925582 84997112 1p22 1p22.3 607399 MCOLN2 Mucolipin 2 MCOLN2 255231 ENSG00000153898 incorrectly assigned to chr.3 Mcoln2 (MGI:1915529) -chr1 85018081 85048901 1p22.3 1p22.3 607400 MCOLN3 Mucolipin 3 MCOLN3 55283 ENSG00000055732 Mcoln3 (MGI:1890500) -chr1 85062326 85133137 1p22.3 1p22.3 617968 WDR63 WD repeat-containing protein 63 DNAI3 126820 ENSG00000162643 Dnai3 (MGI:3045269) -chr1 85265775 85276631 1p22 1p22.3 603517 BCL10, IMD37 B-cell leukemia/lymphoma 10 BCL10 8915 ENSG00000142867 mutation identified in 1 IMD37 patient {Lymphoma, follicular, somatic}, 605027 (3); ?Immunodeficiency 37, 616098 (3), Autosomal recessive; {Sezary syndrome, somatic} (3); {Male germ cell tumor, somatic}, 273300 (3); Lymphoma, MALT, somatic, 137245 (3); {Mesothelioma, somatic}, 156240 (3) Bcl10 (MGI:1337994) -chr1 85318484 85578273 1p22 1p22.3 604743 DDAH1 Dimethylarginine dimethylaminohydrolase-1 DDAH1 23576 ENSG00000153904 Ddah1 (MGI:1916469) -chr1 85580760 85583949 1p22.3 1p22.3 602369 CCN1, CYR61, IGFBP10 Cellular communication network factor 1 CCN1 3491 ENSG00000142871 Ccn1 (MGI:88613) -chr1 85728506 86156986 1p22.3 1p22.3 610025 COL24A1 Collagen, type XXIV, alpha-1 COL24A1 255631 ENSG00000171502 Col24a1 (MGI:1918605) -chr1 86424143 86456552 1p22.3 1p22.3 604003 CLCA2 Chloride channel accessory 2 CLCA2 9635 ENSG00000137975 Clca2 (MGI:2139758) -chr1 86468926 86500258 1p22.3 1p22.3 603906 CLCA1, CACC1 Chloride channel accessory 1 CLCA1 1179 ENSG00000016490 Clca1 (MGI:1346342) -chr1 86547077 86580757 1p22.3 1p22.3 616857 CLCA4, CACC2 Chloride channel accessory 4 CLCA4 22802 ENSG00000016602 Clca4b,Clca4a (MGI:2139790,MGI:2139744) -chr1 86634275 86655375 1p22.3 1p22.3 604337 CLCA3 Chloride channel accessory 3 CLCA3P 9629 ENSG00000153923 -chr1 86704569 86748183 1p22.3 1p22.3 609287 SH3GLB1, KIAA0491 SH3 domain, GRB2-like, endophilin B1 SH3GLB1 51100 ENSG00000097033 Sh3glb1 (MGI:1859730) -chr1 86862444 86914576 1p31 1p22.3 606254 SELENOF, SEP15 Selenoprotein F SELENOF 9403 ENSG00000183291 Selenof (MGI:1927947) -chr1 86914634 87109981 1p22 1p22.3 604844 HS2ST1, NFSRA Heparan sulfate 2-O-sulfotransferase 1 HS2ST1 9653 ENSG00000153936 Neurofacioskeletal syndrome with or without renal agenesis, 619194 (3), Autosomal recessive Hs2st1 (MGI:1346049) -chr1 87328879 87348922 1p22.3 1p22.3 603129 LMO4 LIM domain only 4 LMO4 8543 ENSG00000143013 Lmo4 (MGI:109360) -chr1 88684238 88836254 1p22.2 1p22.2 602549 PKN2, PRKCL2, PRK2, PAK2 Protein kinase N2 PKN2 5586 ENSG00000065243 Pkn2 (MGI:109211) -chr1 88852632 88891943 1p22.2 1p22.2 189963 GTF2B, TFIIB, TF2B General transcription factor IIb GTF2B 2959 ENSG00000137947 Gtf2b (MGI:2385191) -chr1 88921043 88992959 1p22.2 1p22.2 610656 CCBL2, KAT3 Cysteine conjugate beta-lyase 2 KYAT3 56267 ENSG00000137944 Kyat3 (MGI:2677849) -chr1 89006676 89022869 1p22.2 1p22.2 600413 GBP3 Guanylate-binding protein 3 GBP3 2635 ENSG00000117226 Gbp2 (MGI:102772) -chr1 89052318 89065207 1p22.2 1p22.2 600411 GBP1 Guanylate binding protein 1, interferon-inducible, 67kD GBP1 2633 ENSG00000117228 Gbp2 (MGI:102772) -chr1 89106131 89126113 1p22.2 1p22.2 600412 GBP2 Guanylate-binding protein 2, interferon-inducible GBP2 2634 ENSG00000162645 Gbp2b,Gbp2 (MGI:102772,MGI:95666) -chr1 89131741 89176002 1p22.2 1p22.2 612468 GBP7 Guanylate-binding protein 7 GBP7 388646 ENSG00000213512 Gbp7,Gbp3 (MGI:1926263,MGI:2444421) -chr1 89181143 89198941 1p22.2 1p22.2 612466 GBP4 Guanylate-binding protein 4 GBP4 115361 ENSG00000162654 Gbp3 (MGI:1926263) -chr1 89256188 89272859 1p22.2 1p22.2 611467 GBP5 Guanylate-binding protein 5 GBP5 115362 ENSG00000154451 Gbp5 (MGI:2429943) -chr1 89364058 89388159 1p22.2 1p22.2 612467 GBP6 Guanylate-binding protein 6 GBP6 163351 ENSG00000183347 Gbp6,Gbp10,Gbp8,Gbp11,Gbp9,Gbp4 (MGI:3605620,MGI:3646307,MGI:97072,MGI:4359647,MGI:2140937,MGI:1923324) -chr1 89522625 89597860 1p22.2 1p22.2 612888 LRRC8B, TALRRP, KIAA0231 Leucine-rich repeat-containing protein 8B LRRC8B 23507 ENSG00000197147 Lrrc8b (MGI:2141353) -chr1 89615809 89719532 1p22.2 1p22.2 612889 LRRC8C, FAD158, AD158 Leucine-rich repeat-containing protein 8C LRRC8C 84230 ENSG00000171488 Lrrc8c (MGI:2140839) -chr1 89821013 89936610 1p22.2 1p22.2 612890 LRRC8D, LRRC5 Leucine-rich repeat-containing protein 8D LRRC8D 55144 ENSG00000171492 Lrrc8d (MGI:1922368) -chr1 89995099 90035532 1p22.2 1p22.2 614601 ZNF326, ZIRD Zinc finger protein 326 ZNF326 284695 ENSG00000162664 Zfp326 (MGI:1927246) -chr1 90711538 90717301 1p22.3 1p22.2 605212 BARHL2 BARH-like 2 BARHL2 343472 ENSG00000143032 Barhl2 (MGI:1859314) -chr1 90915303 91022266 1p22.2 1p22.2 614159 ZNF644, MYP21 Zinc finger protein 644 ZNF644 84146 ENSG00000122482 Myopia 21, autosomal dominant, 614167 (3), Autosomal dominant Zfp644 (MGI:1277212) -chr1 91260765 91408007 1p22.2 1p22.2 615684 HFM1, MER3, POF9 Helicase for meiosis 1 HFM1 164045 ENSG00000162669 Premature ovarian failure 9, 615724 (3), Autosomal recessive Hfm1 (MGI:3036246) -chr1 91498967 91525763 1p22 1p22.2-p22.1 603311 CDC7, CDC7L1 Cell division cycle 7 CDC7 8317 ENSG00000097046 Cdc7 (MGI:1309511) -chr1 91500000 94300000 1p22 608035 CMM4 Melanoma, cutaneous malignant, 4 474388 between D1S430 and D1S2664 {Melanoma, cutaneous malignant, 4}, 608035 (2) -chr1 91500000 94300000 1p22 611381 KAZA2 Kala-azar, susceptibility to, 2 101241898 {Kala-azar, susceptibility to, 2}, 611381 (2) -chr1 91500000 94300000 1p22 191540 UOX Urate oxidase, pseudogene UOX 391051 nonsense mutations responsible for absence of enzyme in man and hominoid primates [Urate oxidase deficiency] (1) -chr1 91680342 91906001 1p33-p32 1p22.1 600742 TGFBR3 Transforming growth factor, beta receptor III (betaglycan, 300kD) TGFBR3 7049 ENSG00000069702 Tgfbr3 (MGI:104637) -chr1 91949370 92014427 1p22.1 1p22.1 602144 BRDT, SPGF21 Bromodomain, testis-specific BRDT 676 ENSG00000137948 mutation identified in 1 SPGF21 patient ?Spermatogenic failure 21, 617644 (3), Autosomal recessive Brdt (MGI:1891374) -chr1 92029984 92063537 1p22.1 1p22.1 617401 EPHX4, ABHD7 Epoxide hydrolase 4 EPHX4 253152 ENSG00000172031 Ephx4 (MGI:2686228) -chr1 92080344 92188508 1p22.1 1p22.1 617945 BTBD8, KIAA1107, APACHE BTB domain-containing protein 8 BTBD8 284697 ENSG00000189195 Btbd8 (MGI:3646208) -chr1 92217914 92245812 1p22.1 1p22.1 618968 C1orf146, SPO16, SCRE Chromosome 1 open reading frame 146 C1orf146 388649 ENSG00000203910 1700028K03Rik (MGI:1923671) -chr1 92245785 92441935 1p22-p21 1p22.1 601749 GLML, GVM, VMGLOM Glomulin GLMN 11146 ENSG00000174842 Glomuvenous malformations, 138000 (3), Autosomal dominant Glmn (MGI:2141180) -chr1 92299049 92402055 1p22.1 1p22.1 611476 RPAP2, C1orf82 RNA polymerase II-associated protein 2 RPAP2 79871 ENSG00000122484 Rpap2 (MGI:2141142) -chr1 92473042 92486924 1p22 1p22.1 600871 GFI1, ZNF163, SCN2 Growth factor independent 1 GFI1 2672 ENSG00000162676 mutation identified in 1 NICINA patient ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3), Autosomal dominant; Neutropenia, severe congenital 2, autosomal dominant, 613107 (3), Autosomal dominant Gfi1 (MGI:103170) -chr1 92508695 92792412 1p22 1p22.1 602942 EVI5, NB4S Ecotropic viral integration site 5 EVI5 7813 ENSG00000067208 Evi5 (MGI:104736) -chr1 92831985 92841923 1p22.1 1p22.1 603634 RPL5, DBA6 Ribosomal protein L5 RPL5 6125 ENSG00000122406 Diamond-Blackfan anemia 6, 612561 (3), Autosomal dominant Rpl5,Gm15500 (MGI:102854,MGI:3782947) -chr1 92832728 92961461 1p22.1 1p22.1 614542 FAM69A Family with sequence similarity 69, member A DIPK1A 388650 ENSG00000154511 Dipk1a (MGI:1914516) -chr1 92837288 92837382 1p22.1 1p22.1 603635 SNORD21, RNU21 Small nucleolar RNA, C/D box 21 SNORD21 6083 ENSG00000206680 -chr1 93079282 93139075 1p22.1 1p22.1 609882 MTF2, PCL2, M96 Metal-regulatory transcription factor 2 MTF2 22823 ENSG00000143033 Mtf2 (MGI:105050) -chr1 93149741 93180412 1p22.1 1p22.1 616876 TMED5 Transmembrane p24 trafficking protein 5 TMED5 50999 ENSG00000117500 Tmed5 (MGI:1921586) -chr1 93345906 93369492 1p22.1 1p22.1 601482 DR1 Down-regulator of transcription 1, TBP-binding (negative cofactor 2) DR1 1810 ENSG00000117505 Dr1 (MGI:1100515) -chr1 93448066 93569670 1p22.1 1p22.1 608848 FNBP1L, TOCA1, C1orf39 Formin binding protein 1-like FNBP1L 54874 ENSG00000137942 Fnbp1l (MGI:1925642) -chr1 93561740 93847218 1p22.1 1p22.1 604704 BCAR3, SH2D3B, NSP2 Breast cancer antiestrogen resistance 3 BCAR3 8412 ENSG00000137936 Bcar3 (MGI:1352501) -chr1 93866283 93879205 1p22.1 1p22.1 611199 DNTTIP2, ERBP, FCF2 DNTT-interacting protein 2 DNTTIP2 30836 ENSG00000067334 Dnttip2 (MGI:1923173) -chr1 93885198 93910369 1p22.1 1p22.1 601176 GCLM, GLCLR Glutamate-cysteine ligase, modifier subunit GCLM 2730 ENSG00000023909 {Myocardial infarction, susceptibility to}, 608446 (3) Gclm (MGI:104995) -chr1 93992833 94121147 1p22.1 1p22.1 601691 ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2 ATP-binding transporter, retina-specific ABCA4 24 ENSG00000198691 Retinal dystrophy, early-onset severe, 248200 (3), Autosomal recessive; Retinitis pigmentosa 19, 601718 (3), Autosomal recessive; {Macular degeneration, age-related, 2}, 153800 (3), Autosomal dominant; Cone-rod dystrophy 3, 604116 (3); Fundus flavimaculatus, 248200 (3), Autosomal recessive; Stargardt disease 1, 248200 (3), Autosomal recessive Abca4 (MGI:109424) -chr1 94168904 94275067 1p22.1 1p22.1 610496 ARHGAP29, PARG1 RHO GTPase-activating protein 29 ARHGAP29 9411 ENSG00000137962 Arhgap29 (MGI:2443818) -chr1 94418085 94518662 1p22-p21 1p21.3 170995 ABCD3, PXMP1, PMP70, CBAS5 ATP-binding cassette, subfamily D, member 3 (peroxisomal membrane protein 1, 70kD) ABCD3 5825 ENSG00000117528 mutation identified in 1 CBAS5 family ?Bile acid synthesis defect, congenital, 5, 616278 (3), Autosomal recessive Abcd3 (MGI:1349216) -chr1 94529172 94541758 1p22-p21 1p21.3 134390 F3, TFA Coagulation factor III F3 2152 ENSG00000117525 F3 (MGI:88381) -chr1 94896956 94927109 1p22-p21 1p21.3 602374 CNN3 Calponin 3, acidic CNN3 1266 ENSG00000117519 Cnn3 (MGI:1919244) -chr1 94974404 95072973 1p21.3 1p21.3 612866 ALG14, CMS15, IDDEBF, MEPCA ALG14 UDP-N-acetylglucosaminyltransferase subunit ALG14 199857 ENSG00000172339 mutation identified in 1 CMSWTA family Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies, 619031 (3), Autosomal recessive; Myopathy, epilepsy, and progressive cerebral atrophy, 619036 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3), Autosomal recessive Alg14 (MGI:1914039) -chr1 95234154 95247224 1p21.3 1p21.3 615875 RWDD3, RSUME RWD domain-containing protein 3 RWDD3 25950 ENSG00000122481 Rwdd3 (MGI:1920420) -chr1 96721765 96823738 1p21 1p21.3 608449 PTBP2, NPTB Polypyrimidine tract-binding protein 2 PTBP2 58155 ENSG00000117569 Ptbp2 (MGI:1860489) -chr1 97077742 97921058 1p22 1p21.3 612779 DPYD, DPD Dihydropyrimidine dehydrogenase DPYD 1806 ENSG00000188641 Dihydropyrimidine dehydrogenase deficiency, 274270 (3), Autosomal recessive; 5-fluorouracil toxicity, 274270 (3), Autosomal recessive Dpyd (MGI:2139667) -chr1 98046069 98046170 1p22 1p21.3 614304 MIR137, MIRN137 Micro RNA 137 MIR137 406928 ENSG00000284202 Mir137 (MGI:2676822) -chr1 98661283 98760499 1p21.3 1p21.3 614904 SNX7 Sorting nexin 7 SNX7 51375 ENSG00000162627 Snx7 (MGI:1923811) -chr1 98890244 99006129 1p21.3 1p21.3 617287 PLPPR5, LPPR5, PAP2D, PAP2 Phospholipid phosphatase-related protein 5 PLPPR5 163404 ENSG00000117598 Plppr5 (MGI:1923019) -chr1 99262955 99309583 1p21.3 1p21.3-p21.2 607813 PLPPR4, LPPR4, PRG1, KIAA0455 Phospholipid phosphatase-related protein 4 PLPPR4 9890 ENSG00000117600 Plppr4 (MGI:106530) -chr1 99646112 99694534 1p21.2 1p21.2 610182 PALMD, PALML Palmdelphin PALMD 54873 ENSG00000099260 Palmd (MGI:2148896) -chr1 99703969 99766634 1p21.2 1p21.2 611578 FRRS1, SDR2 Ferric chelate reductase 1 FRRS1 391059 ENSG00000156869 Frrs1 (MGI:108076) -chr1 99850076 99924022 1p21 1p21.2 610860 AGL, GDE Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme) AGL 178 ENSG00000162688 Glycogen storage disease IIIa, 232400 (3), Autosomal recessive; Glycogen storage disease IIIb, 232400 (3), Autosomal recessive Agl (MGI:1924809) -chr1 99968400 100035633 1p21 1p21.2 605632 SLC35A3, AMRS Solute carrier family 35 (UDP-GlcNAc transporter), member 3 SLC35A3 23443 ENSG00000117620 mutation identified in 1 family ?Arthrogryposis, mental retardation, and seizures, 615553 (3), Autosomal recessive Slc35a3 (MGI:1917648) -chr1 100082631 100132929 1p21.2 1p21.2 609321 SASS6, SAS6, MCPH14 SAS-6 centriolar assembly protein SASS6 163786 ENSG00000156876 mutation identified in 1 MCPH14 family ?Microcephaly 14, primary, autosomal recessive, 616402 (3), Autosomal recessive Sass6 (MGI:1920026) -chr1 100186918 100249863 1p31 1p21.2 248610 DBT, BCATE2 Dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex) DBT 1629 ENSG00000137992 pseudogene on 3q24 Maple syrup urine disease, type II, 248600 (3), Autosomal recessive Dbt (MGI:105386) -chr1 100266186 100292768 1p21.2 1p21.2 611286 RTCD1, RPC RNA terminal phosphate cyclase domain-containing protein 1 RTCA 8634 ENSG00000137996 Rtca (MGI:1913618) -chr1 100345000 100520276 1p21 1p21.2 603504 CDC14A, DFNB32 Cell division cycle 14A CDC14A 8556 ENSG00000079335 Deafness, autosomal recessive 32, with or without immotile sperm, 608653 (3), Autosomal recessive Cdc14a (MGI:2442676) -chr1 100538138 100542020 1p21.2 1p21.2 607468 GPR88, STRG, COCPMR G protein-coupled receptor 88 GPR88 54112 ENSG00000181656 mutation identified in 1 COCPMR family ?Chorea, childhood-onset, with psychomotor retardation, 616939 (3), Autosomal recessive Gpr88 (MGI:1927653) -chr1 100719741 100739044 1p32-p31 1p21.2 192225 VCAM1 Vascular cell adhesion molecule-1 VCAM1 7412 ENSG00000162692 Vcam1 (MGI:98926) -chr1 100872371 100895410 1p12-p11 1p21.2 602411 EXTL2 Exostosin-like 2 EXTL2 2135 ENSG00000162694 Extl2 (MGI:1889574) -chr1 100896089 100996912 1p21.2 1p21.2 611149 SLC30A7, ZNT7 Solute carrier family 30 (zinc transporter), member 7 SLC30A7 148867 ENSG00000162695 Slc30a7 (MGI:1913750) -chr1 100975217 101025805 1p21.2 1p21.2 611075 DPH5, HSPC143 Diphthamide biosynthesis protein 5 DPH5 51611 ENSG00000117543 Dph5 (MGI:1916990) -chr1 101236898 101241517 1p21 1p21.2 601974 S1PR1, EDG1, S1P1 Sphingosine-1-phosphate receptor 1 S1PR1 1901 ENSG00000170989 S1pr1 (MGI:1096355) -chr1 101800000 155100000 1p21.1-q21.3 612841 HYPT5, MUHH2 Hypotrichosis 5 max lod at D1S2881 Hypotrichosis 5, 612841 (2), Autosomal dominant -chr1 101800000 111200000 1p21.1-p13.3 611107 MRT4 Mental retardation, autosomal recessive, 4 100009675 between D2S429 and D1S187 Mental retardation, autosomal recessive, 4, 611107 (2), Autosomal recessive -chr1 101800000 106700000 1p21 609822 STQTL7 Stature quantitative trait locus 7 100037265 max lod at D1S1631 {Stature QTL 7}, 609822 (2) -chr1 101800000 111200000 1p21-p13.3 600193 WS2B Waardenburg syndrome, type 2B 7488 Waardenburg syndrome, type 2B, 600193 (2), Autosomal dominant -chr1 101800027 101996925 1p21 1p21.1 607567 OLFM3, NOE3 Olfactomedin 3 OLFM3 118427 ENSG00000118733 Olfm3 (MGI:2387329) -chr1 102876472 103108579 1p21 1p21.1 120280 COL11A1, STL2, DFNA37 Collagen XI, alpha-1 polypeptide COL11A1 1301 ENSG00000060718 Fibrochondrogenesis 1, 228520 (3), Autosomal recessive; Stickler syndrome, type II, 604841 (3), Autosomal dominant; Marshall syndrome, 154780 (3), Autosomal dominant; Deafness, autosomal dominant 37, 618533 (3), Autosomal dominant; {Lumbar disc herniation, susceptibility to}, 603932 (3) Col11a1 (MGI:88446) -chr1 103525698 103555238 1p21.1 1p21.1 618016 RNPC3, SNRNP65, KIAA1839, IGHD5 RNA-binding region-containing protein 3 RNPC3 55599 ENSG00000185946 mutation identified in 1 IGHD5 family ?Growth hormone deficiency, isolated, type V, 618160 (3), Autosomal recessive Rnpc3 (MGI:1914475) -chr1 103554643 103579533 1p21 1p21.1 104660 AMY2B Amylase, pancreatic, alpha-2B AMY2B 280 ENSG00000240038 distal to NGFB Amy2a2,Amy1,Amy2a5 (MGI:3711220,MGI:88019,MGI:88020) -chr1 103617426 103625779 1p21 1p21.1 104650 AMY2A Amylase, pancreatic, alpha-2A AMY2A 279 ENSG00000243480 Amy2a2,Amy1,Amy2a5 (MGI:3711220,MGI:88019,MGI:88020) -chr1 103655518 103664553 1p21 1p21.1 104700 AMY1A Amylase, salivary, alpha-1A AMY1A 276 ENSG00000237763 multiple amylase genes -chr1 103687414 103696452 1p21 1p21.1 104701 AMY1B Amylase, salivary, alpha-1B AMY1B 277 ENSG00000174876 Amy1,Amy2a5 (MGI:88019,MGI:88020) -chr1 103745429 103758691 1p21 1p21.1 104702 AMY1C Amylase, salivary, alpha-1C AMY1C 278 ENSG00000187733 Amy1 (MGI:88019) -chr1 106700000 111200000 1p13.3 118943 CYMP Chymosin pseudogene CYMP 643160 ENSG00000240194 -chr1 107056673 107059293 1p13.3 1p13.3 608274 PRMT6 Protein arginine N-methyltransferase 6 PRMT6 55170 ENSG00000198890 Prmt6 (MGI:2139971) -chr1 107140016 107484922 1p13.3 1p13.3 608818 NTNG1, LMNT1, KIAA0976 Netrin G1 NTNG1 22854 ENSG00000162631 Ntng1 (MGI:1934028) -chr1 107571160 107965179 1p13.3 1p13.3 605541 VAV3 Vav3 oncogene VAV3 10451 ENSG00000134215 Vav3 (MGI:1888518) -chr1 108134042 108200342 1p36.13 1p13.3 608744 SLC25A24, SCAMC1 Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 SLC25A24 29957 ENSG00000085491 Fontaine progeroid syndrome, 612289 (3), Autosomal dominant Slc25a24 (MGI:1917160) -chr1 108222463 108244075 1p12 1p13.3 613994 NBPF4 Neuroblastoma breakpoint family, member 4 NBPF4 148545 ENSG00000196427 -chr1 108375970 108383613 1p12 1p13.3 613995 NBPF5P NBPF member 5, pseudogene NBPF5P 100507044 -chr1 108421495 108471919 1p12 1p13.3 613996 NBPF6 Neuroblastoma breakpoint family, member 6 NBPF6 653149 ENSG00000186086 -chr1 108648294 108661473 1p13.3 1p13.3 612178 HENMT1, C1orf59, HEN1 HEN methyltransferase 1 HENMT1 113802 ENSG00000162639 Henmt1 (MGI:1913965) -chr1 108875349 108934544 1p13.1 1p13.3 609245 GPSM2, LGN, PINS, DFNB82, CMCS G-protein signaling modulator 2 GPSM2 29899 ENSG00000121957 Chudley-McCullough syndrome, 604213 (3), Autosomal recessive Gpsm2 (MGI:1923373) -chr1 108929504 108963483 1p13.3 1p13.3 617539 CLCC1, MCLC, RP32 Chloride channel CLIC-like 1 CLCC1 23155 ENSG00000121940 Retinitis pigmentosa 32, 609913 (3), Autosomal recessive Clcc1 (MGI:2385186) -chr1 108970210 109042112 1p13.3 1p13.3 615734 WDR47, NEMITIN, KIAA0893 WD repeat-containing protein 47 WDR47 22911 ENSG00000085433 Wdr47 (MGI:2139593) -chr1 109064139 109076002 1p13.3 1p13.3 600774 TAF13, TAF2K, MRT60 TAF13 RNA polymerase II, TATA box-binding protein-associated factor, 18kD TAF13 6884 ENSG00000197780 Mental retardation, autosomal recessive 60, 617432 (3), Autosomal recessive Taf13 (MGI:1913500) -chr1 109105950 109113830 1p13.3 1p13.3 618682 C10orf194 Chromosome 1 open reading frame 194 C1orf194 127003 ENSG00000179902 1700013F07Rik (MGI:1922754) -chr1 109114105 109206780 1p13.3 1p13.3 611298 ELAPOR1, KIAA1324, EIG121 Endosome-lysosome-associated apoptosis and autophagy regulator 1 ELAPOR1 57535 ENSG00000116299 Elapor1 (MGI:1923930) -chr1 109213892 109238181 1p13 1p13.3 607529 SARS1, SARS, SERS, NEDMAS Seryl-tRNA synthetase 1 SARS1 6301 ENSG00000031698 mutation identified in 1 NEDMAS family ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709 (3), Autosomal recessive Sars (MGI:102809) -chr1 109249538 109275750 1p21 1p13.3 604265 CELSR2, EGFL2, MEGF3 Cadherin EGF LAG seven-pass G-type receptor 3 (epidermal growth factor-like 2) CELSR2 1952 ENSG00000143126 Celsr2 (MGI:1858235) -chr1 109279555 109283171 1p13.1 1p13.3 613126 PSRC1, DDA3 Proline/serine-rich coiled-coil protein 1 PSRC1 84722 ENSG00000134222 Psrc1 (MGI:1913099) -chr1 109309574 109397939 1p13.3 1p13.3 602458 SORT1, NT3, LDLCQ6 Sortilin SORT1 6272 ENSG00000134243 [Low density lipoprotein cholesterol level QTL6], 613589 (3), Autosomal dominant Sort1 (MGI:1338015) -chr1 109399041 109426447 1p13 1p13.3 176844 PSMA5, PSC5 Proteasome component 5 PSMA5 5686 ENSG00000143106 Psma5 (MGI:1347009) -chr1 109504177 109509741 1p13.3 1p13.3 615689 AMIGO1, ALI2, KIAA1163 Adhesion molecule with Ig-like domain 1 AMIGO1 57463 ENSG00000181754 Amigo1 (MGI:2653612) -chr1 109539871 109547259 1p13.3 1p13.3 606916 GPR61 G protein-coupled receptor 61 GPR61 83873 ENSG00000156097 Gpr61 (MGI:2441719) -chr1 109548614 109600194 1p13 1p13.3 139370 GNAI3, ARCND1 Guanine nucleotide-binding protein (G-protein), alpha-inhibiting activity polypeptide-3 GNAI3 2773 ENSG00000065135 Auriculocondylar syndrome 1, 602483 (3), Autosomal dominant Gnai3 (MGI:95773) -chr1 109598892 109598966 1p13.3 1p13.3 611189 MIR197 Micro rNA 197 MIR197 406974 ENSG00000284443 -chr1 109603090 109619615 1p13 1p13.3 139340 GNAT2, ACHM4 Guanine nucleotide-binding protein (G-protein), alpha-transducing (transducin) activity polypeptide-2 GNAT2 2780 ENSG00000134183 Achromatopsia 4, 613856 (3) Gnat2 (MGI:95779) -chr1 109619836 109632054 1p13.3 1p13.3 102771 AMPD2, SPG63, PCH9 Adenosine monophosphate deaminase-2, isoform L AMPD2 271 ENSG00000116337 mutation identified in 1 SPG63 family ?Spastic paraplegia 63, 615686 (3), Autosomal recessive; Pontocerebellar hypoplasia, type 9, 615809 (3), Autosomal recessive Ampd2 (MGI:88016) -chr1 109656075 109665496 1p13.3 1p13.3 138333 GSTM4 Glutathione S-transferase M4 GSTM4 2948 ENSG00000168765 Gstm4 (MGI:95862) -chr1 109668056 109683996 1p13.3 1p13.3 138380 GSTM2, GST4 Glutathione S-transferase M2, muscle GSTM2 2946 ENSG00000213366 Gstm7 (MGI:1915562) -chr1 109687816 109693744 1p13.3 1p13.3 138350 GSTM1 Glutathione S-transferase M1 GSTM1 2944 ENSG00000134184 Gstm3,Gstm1,Gstm2,Gstm6 (MGI:106026,MGI:1309467,MGI:95861,MGI:95860) -chr1 109711750 109718267 1p13.3 1p13.3 138385 GSTM5 Glutathione S-transferase M5 GSTM5 2949 ENSG00000134201 pseudogene on chr.3 Gstm2 (MGI:95861) -chr1 109733936 109741037 1p13.3 1p13.3 138390 GSTM3, GST5 Glutathione S-transferase M3, brain GSTM3 2947 ENSG00000134202 Gstm5 (MGI:1309466) -chr1 109750079 109763975 1p13.3 1p13.3 614989 EPS8L3, EPS8R3, HYPT5 EPS8-like protein 3 EPS8L3 79574 ENSG00000198758 mutation identified in 1 HYPT5 family ?Hypotrichosis 5, 612841 (3), Autosomal dominant Eps8l3 (MGI:2139743) -chr1 109910505 109930991 1p21-p13 1p13.3 120420 CSF1, MCSF Colony-stimulating factor-1 (macrophage) CSF1 1435 ENSG00000184371 incorrectly assigned to chr.5 Csf1 (MGI:1339753) -chr1 109984764 110023741 1p13.3 1p13.3 607826 AHCYL1, DCAL, IRBIT Adenosylhomocysteine-like 1 AHCYL1 10768 ENSG00000168710 Ahcyl1 (MGI:2385184) -chr1 110031576 110054640 1p13.3 1p13.3 617918 STRIP1, FAR11A, FAM40A Striatin-interacting protein 1 STRIP1 85369 ENSG00000143093 Strip1 (MGI:2443884) -chr1 110059869 110070671 1p21-p13 1p13.3 606014 ALX3, FND1 Aristaless-like homeobox 3 ALX3 257 ENSG00000156150 Frontonasal dysplasia 1, 136760 (3), Autosomal recessive Alx3 (MGI:1277097) -chr1 110112442 110113946 1p13.3 1p13.3 611127 UBL4B Ubiquitin-like 4B UBL4B 164153 ENSG00000186150 Ubl4b (MGI:1914841) -chr1 110150493 110202201 1p13.3 1p13.3 610299 SLC6A17, NTT4, MRT48 Solute carrier family 6 (neurotransmitter transporter), member 17 SLC6A17 388662 ENSG00000197106 Mental retardation, autosomal recessive 48, 616269 (3), Autosomal recessive Slc6a17 (MGI:2442535) -chr1 110210313 110282648 1p13.3 1p13.3 176265 KCNC4 Potassium voltage-gated channel, Shaw-related subfamily, member 4 KCNC4 3749 ENSG00000116396 Kcnc4 (MGI:96670) -chr1 110339376 110346676 1p13 1p13.3 606077 RBM15, SPEN, OTT One-twenty two protein (RNA binding motif protein 15; Spen, Drosophila, homolog of) RBM15 64783 ENSG00000162775 Megakaryoblastic leukemia, acute, 606077 (2) Rbm15 (MGI:2443205) -chr1 110362855 110391970 1p13.3 1p13.3 603878 SLC16A4, MCT5 Solute carrier family 16 (monocarboxylic acid transporter) member 4 SLC16A4 9122 ENSG00000168679 Slc16a4 (MGI:2385183) -chr1 110401252 110407923 1p13.2 1p13.3 608521 LAMTOR5, HBXIP, XIP Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 5 LAMTOR5 10542 ENSG00000134248 Lamtor5 (MGI:1915826) -chr1 110451148 110457357 1p21 1p13.3 606233 PROK1, PK1, PRK1, EGVEGF Prokineticin 1 PROK1 84432 ENSG00000143125 Prok1 (MGI:2180370) -chr1 110517216 110519174 1p13.1 1p13.3 602420 KCNA10 Potassium voltage-gated channel, shaker-related subfamily, member 10 KCNA10 3744 ENSG00000143105 Kcna10 (MGI:3037820) -chr1 110593579 110631535 1p13.3 1p13.3 176262 KCNA2, DEE32 Potassium channel, voltage-gated, Shaker-related subfamily, member 2 KCNA2 3737 ENSG00000177301 Developmental and epileptic encephalopathy 32, 616366 (3), Autosomal dominant Kcna2 (MGI:96659) -chr1 110653559 110674939 1p21-p13.3 1p13.3 176263 KCNA3 Potassium voltage-gated channel, shaker-related subfamily, member 3 KCNA3 3738 ENSG00000177272 mapped probably in error to chr.13 Kcna3 (MGI:96660) -chr1 110871166 110899927 1p21-p13.3 1p13.3 151525 CD53, MOX44 CD53 antigen CD53 963 ENSG00000143119 Cd53 (MGI:88341) -chr1 110877251 110963961 1p12 1p13.3 615354 LRIF1, RIF1, FSHD3 Ligand-dependent nuclear receptor-interacting factor 1 LRIF1 55791 ENSG00000121931 mutation identified in 1 FSHD3 patient ?Facioscapulohumeral muscular dystrophy 3, digenic, 619477 (3), Digenic recessive Lrif1 (MGI:2445214) -chr1 111117162 111140215 1p13.3 1p13.3 613360 DRAM2, TMEM77, CORD21 Damage-regulated autophagy modulator 2 DRAM2 128338 ENSG00000156171 Cone-rod dystrophy 21, 616502 (3), Autosomal recessive Dram2 (MGI:1914421) -chr1 111139435 111185103 1p13.3 1p13.3 616751 CEPT1 Choline/ethanolamine phosphotransferase 1 CEPT1 10390 ENSG00000134255 Cept1 (MGI:2139793) -chr1 111185968 111204790 1p13.3 1p13.3-p13.2 615111 DENND2D DENN/MADD domain-containing protein 2D DENND2D 79961 ENSG00000162777 Dennd2d (MGI:2181193) -chr1 111200000 115500000 1p13.2 617386 NR1H5P, FXRB Nuclear receptor subfamily 1, group H, member 5, pseudogene NR1H5P 643609 ENSG00000227970 -chr1 111227079 111243439 1p13.3 1p13.2 601526 CHI3L2, YKL39 Chitinase 3-like 2 CHI3L2 1117 ENSG00000064886 -chr1 111290850 111320565 1p21.3-p13.1 1p13.2 606080 CHIA, TSA1902, CHIT2 Chitinase, acidic CHIA 27159 ENSG00000134216 Chia1,Chil3,Chil5,Chil4,Chil6 (MGI:2676649,MGI:1932052,MGI:2682303,MGI:1330860,MGI:1341098) -chr1 111324662 111353016 1p13.2 1p13.2 614234 C1orf88, PIFO Chromosome 1 open reading frame 88 (pitchfork, mouse, homolog of) PIFO 128344 ENSG00000173947 Pifo (MGI:1923670) -chr1 111414318 111427734 1p13.2 1p13.2 603578 OVGP1 Oviductal glycoprotein 1 OVGP1 5016 ENSG00000085465 Ovgp1 (MGI:106661) -chr1 111439889 111449255 1p13.2 1p13.2 611734 WDR77, MEP50 WD repeat-containing protein 77 WDR77 79084 ENSG00000116455 Wdr77 (MGI:1917715) -chr1 111449463 111462772 1p13.2 1p13.2 603270 ATP5PB, ATP5F1 ATP synthase peripheral stalk membrane, subunit B ATP5PB 515 ENSG00000116459 Atp5pb (MGI:1100495) -chr1 111499428 111503632 1p21-p13 1p13.2 600445 ADORA3 Adenosine A3 receptor ADORA3 140 ENSG00000282608 Adora3 (MGI:104847) -chr1 111542008 111716690 1p13.3 1p13.2 179520 RAP1A, KREV1 RAS-related protein RAP1A RAP1A 5906 ENSG00000116473 pseudogene on 14q24.3 Rap1a (MGI:97852) -chr1 111755900 111767999 1p21.1-p13.2 1p13.2 606168 DDX20 DEAD-box helicase 20 DDX20 11218 ENSG00000064703 Ddx20 (MGI:1858415) -chr1 111770661 111989667 1p13.3-p13.2 1p13.2 605411 KCND3, KCND3S, KCND3L, SCA19, SCA22, BRGDA9 Potassium voltage-gated channel, Shal-related subfamily, member 3 KCND3 3752 ENSG00000171385 Spinocerebellar ataxia 19, 607346 (3), Autosomal dominant; Brugada syndrome 9, 616399 (3), Autosomal dominant Kcnd3 (MGI:1928743) -chr1 112391084 112461163 1p13.2 1p13.2 615100 CTTNBP2NL CTTNBP2 N terminus-like protein CTTNBP2NL 55917 ENSG00000143079 Cttnbp2nl (MGI:1933137) -chr1 112466540 112530164 1p13 1p13.2 601968 WNT2B, WNT13, XWNT2 Wingless-type MMTV integration site family, member 2B WNT2B 7482 ENSG00000134245 Diarrhea 9, 618168 (3), Autosomal recessive Wnt2b (MGI:1261834) -chr1 112517443 112619880 1p13 1p13.2 617640 ST7L, ST7R Suppressor of tumorigenicity 7-like protein ST7L 54879 ENSG00000007341 St7l (MGI:2386964) -chr1 112619774 112671615 1p13.2 1p13.2 601580 CAPZA1, CAPPA1 Capping protein, muscle Z-line, alpha-1 CAPZA1 829 ENSG00000116489 Capza1 (MGI:106227) -chr1 112674426 112702376 1p13.2 1p13.2 610742 MOV10, KIAA1631 Moloney leukemia virus 10, mouse, homolog of MOV10 4343 ENSG00000155363 Mov10 (MGI:97054) -chr1 112701130 112707407 1p13.2 1p13.2 165380 RHOC, ARHC, ARH9, RHOH9 RAS homolog gene family, member C (oncogene RHO H9) RHOC 389 ENSG00000155366 incorrectly assigned to chr.5 Rhoc (MGI:106028) -chr1 112709997 112715331 1p13.2 1p13.2 609957 PPM1J, PP2CZ, PPP2CZ Protein phosphatase, magnesium-dependent, 1J PPM1J 333926 ENSG00000155367 Ppm1j (MGI:1919137) -chr1 112718904 112727234 1p13.2 1p13.2 617497 FAM19A3, TAFA3 Family with sequence similarity 19, member A3, CC motif chemokine-like TAFA3 284467 ENSG00000184599 Tafa3 (MGI:3046463) -chr1 112911846 112956195 1p13.2-p12 1p13.2 600682 SLC16A1, MCT1, HHF7, MCT1D Solute carrier family 16 (monocarboxylic acid transporters), member 1 SLC16A1 6566 ENSG00000155380 Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3), Autosomal dominant; Erythrocyte lactate transporter defect, 245340 (3), Autosomal dominant; Monocarboxylate transporter 1 deficiency, 616095 (3), Autosomal dominant, Autosomal recessive Slc16a1 (MGI:106013) -chr1 113073169 113132259 1p13 1p13.2 608869 LRIG2, LIG2, KIAA0806, UFS2 Leucine-rich repeats- and immunoglobulin-like domains-containing protein 2 LRIG2 9860 ENSG00000198799 Urofacial syndrome 2, 615112 (3), Autosomal recessive Lrig2 (MGI:2443718) -chr1 113390473 113685922 1p21 1p13.2 615943 MAGI3, KIAA1634 Membrane-associated guanylate kinase, WW and PDZ domains-containing, 3 MAGI3 260425 ENSG00000081026 Magi3 (MGI:1923484) -chr1 113696830 113759887 1p13 1p13.2 604950 PHTF1 Putative homeodomain transcription factor 1 PHTF1 10745 ENSG00000116793 Phtf1 (MGI:1332671) -chr1 113761831 113812536 1p13.2 1p13.2 615858 RSBN1, ROSBIN Round spermatid basic protein 1 RSBN1 54665 ENSG00000081019 Rsbn1 (MGI:2444993) -chr1 113813810 113871760 1p13 1p13.2 600716 PTPN22, PEP, PTPN8, LYP Protein tyrosine phosphatase, nonreceptor-type 22 PTPN22 26191 ENSG00000134242 {Rheumatoid arthritis, susceptibility to}, 180300 (3); {Systemic lupus erythematosus susceptibility to}, 152700 (3), Autosomal dominant; {Diabetes, type 1, susceptibility to}, 222100 (3), Autosomal recessive Ptpn22 (MGI:107170) -chr1 113894193 113905066 1p13.2 1p13.2 607245 AP4B1, SPG47, CPSQ5 Adaptor-related protein complex 4, beta-1 subunit AP4B1 10717 ENSG00000134262 Spastic paraplegia 47, autosomal recessive, 614066 (3), Autosomal recessive Ap4b1 (MGI:1337130) -chr1 113904618 113914085 1p13.3-p13.1 1p13.2 609683 DCLRE1B, SNM1B, APOLLO DNA cross-link repair protein 1B DCLRE1B 64858 ENSG00000118655 Dclre1b (MGI:2156057) -chr1 113929323 113977868 1p13.2 1p13.2 608003 HIPK1 Homeodomain-interacting protein kinase 1 HIPK1 204851 ENSG00000163349 Hipk1 (MGI:1314873) -chr1 113979473 113982253 1p13.1 1p13.2 610088 OLFML3, OLF44 Olfactomedin-like 3 OLFML3 56944 ENSG00000116774 Olfml3 (MGI:1914877) -chr1 114089291 114153868 1p13.2 1p13.2 607718 SYT6 Synaptotagmin 6 SYT6 148281 ENSG00000134207 Syt6 (MGI:1859544) -chr1 114392786 114511202 1p13 1p13.2 605769 TRIM33, TIF1G, RFG7, PTC7 Tripartite motif-containing protein 33 TRIM33 51592 ENSG00000197323 fused with RET to form PTC7 Trim33 (MGI:2137357) -chr1 114567556 114581614 1p21-p13.3 1p13.2 605783 BCAS2, DAM1 Breast carcinoma amplified sequence 2 BCAS2 10286 ENSG00000116752 Bcas2 (MGI:1915433) -chr1 114673097 114695545 1p21-p13 1p13.2 102770 AMPD1, MMDD Adenosine monophosphate deaminase-1, muscle AMPD1 270 ENSG00000116748 Myopathy due to myoadenylate deaminase deficiency, 615511 (3), Autosomal recessive Ampd1 (MGI:88015) -chr1 114704468 114716770 1p13.2 1p13.2 164790 NRAS, ALPS4, NS6, CMNS, NCMS NRAS protooncogene, GTPase NRAS 4893 ENSG00000213281 cen-CD2-NGFB-NRAS Noonan syndrome 6, 613224 (3), Autosomal dominant; ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 (3); Melanocytic nevus syndrome, congenital, somatic, 137550 (3); Epidermal nevus, somatic, 162900 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); Thyroid carcinoma, follicular, somatic, 188470 (3); Neurocutaneous melanosis, somatic, 249400 (3); Colorectal cancer, somatic, 114500 (3) Nras (MGI:97376) -chr1 114716915 114757983 1p22 1p13.2 191510 CSDE1, D1S155E, UNR Cold-shock domain-containing E1, RNA-binding CSDE1 7812 ENSG00000009307 130bp 5' to NRAS Csde1 (MGI:92356) -chr1 114769478 114780684 1p13.2 1p13.2 611656 SIKE Suppressor of IKK-epsilon SIKE1 80143 ENSG00000052723 Sike1 (MGI:1913891) -chr1 114854267 114995369 1p13 1p13.2 602162 SYCP1, SCP1 Synaptonemal complex protein-1 SYCP1 6847 ENSG00000198765 Sycp1 (MGI:105931) -chr1 115029825 115035934 1p13 1p13.2 188540 TSHB, CHNG4 Thyroid-stimulating hormone, beta polypeptide TSHB 7252 ENSG00000134200 centromeric to NGFB Hypothyroidism, congenital, nongoitrous 4, 275100 (3), Autosomal recessive Tshb (MGI:98848) -chr1 115048010 115089502 1p13.2 1p13.2 613133 TSPAN2, NET3 Tetraspanin 2 TSPAN2 10100 ENSG00000134198 Tspan2 (MGI:1917997) -chr1 115285914 115338252 1p13.1 1p13.2 162030 NGF, NGFB, HSAN5 Nerve growth factor, beta NGF 4803 ENSG00000134259 same 310kb fragment as TSHB; order: cen-CD2-CD58-ATP1A1-NGF-TSHB-NRAS-tel Neuropathy, hereditary sensory and autonomic, type V, 608654 (3), Autosomal recessive Ngf (MGI:97321) -chr1 115500000 117200000 1p13 193000 VUR Vesicoureteral reflux 54113 Vesicoureteral reflux, 193000 (2), Autosomal dominant -chr1 115641969 115698220 1p13 1p13.1 610132 VANGL1, STBM2 Vang-like 1 VANGL1 81839 ENSG00000173218 {Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant; Caudal regression syndrome, 600145 (3), Autosomal dominant Vangl1 (MGI:2159344) -chr1 115700020 115768713 1p13.3-p11 1p13.1 114251 CASQ2 Calsequestrin, fast-twitch, skeletal muscle-2 CASQ2 845 ENSG00000118729 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3), Autosomal recessive Casq2 (MGI:1309469) -chr1 115830776 115841125 1p12-p11 1p13.1 162361 NHLH2, HEN2 Nescient helix loop helix 2 NHLH2 4808 ENSG00000177551 Nhlh2 (MGI:97324) -chr1 115976512 116070053 1p13.1 1p13.1 608275 SLC22A15, FLIPT1 Solute carrier family 22 (organic cation transporter), member 15 SLC22A15 55356 ENSG00000163393 Slc22a15 (MGI:3607704) -chr1 116372985 116410258 1p13.1 1p13.1 182310 ATP1A1, CMT2DD, HOMGSMR2 ATPase, Na+K+ transporting, alpha-1 polypeptide ATP1A1 476 ENSG00000163399 Hypomagnesemia, seizures, and mental retardation 2, 618314 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 (3), Autosomal dominant Atp1a1 (MGI:88105) -chr1 116392864 116418621 1p13.1 1p13.1 618305 ATP1A1AS1 ATP1A1 antisense RNA 1 ATP1A1-AS1 84852 ENSG00000203865 -chr1 116500389 116571036 1p13 1p13.1 153420 CD58, LFA3 CD58 antigen (lymphocyte function-associated antigen 3) CD58 965 ENSG00000116815 ?same as MSK1; gene cloned -chr1 116574397 116667754 1p13 1p13.1 603491 IGSF3, LCDD Immunoglobulin superfamily, member 3 IGSF3 3321 ENSG00000143061 mutation identified in 1 LCDD family ?Lacrimal duct defect, 149700 (3), Autosomal recessive Igsf3 (MGI:1926158) -chr1 116754429 116769228 1p13.1 1p13.1 186990 CD2 CD2 antigen (p50), sheep red blood cell receptor CD2 914 ENSG00000116824 Cd2 (MGI:88320) -chr1 116909915 116990357 1p13.1-q21.3 1p13.1 601204 PTGFRN, FPRP Prostaglandin F2 receptor negative regulator PTGFRN 5738 ENSG00000134247 Ptgfrn (MGI:1277114) -chr1 116987996 117037480 1p13.1 1p13.1 604516 CD101, IGSF2 CD101 antigen CD101 9398 ENSG00000134256 Cd101 (MGI:2685862) -chr1 117060302 117107452 1p13.1 1p13.1 604718 TTF2 Transcription termination factor 2 TTF2 8458 ENSG00000116830 Ttf2 (MGI:1921294) -chr1 117107710 117121788 1p22 1p13.1 609318 TRIM45 Tripartite motif-containing protein 45 TRIM45 80263 ENSG00000134253 Trim45 (MGI:1918187) -chr1 117143586 117210984 1p13.1 1p13-p12 608162 VCTN1, B7H4, B7X, B7S1 V-set domain containing T cell activation inhibitor 1 VTCN1 79679 ENSG00000134258 Vtcn1 (MGI:3039619) -chr1 117200000 120400000 1p12 618026 NOTCH2NLR NOTCH2 N-terminal-like-related, pseudogene NOTCH2NLR 101929796 ENSG00000286106 -chr1 117367392 117528871 1p13 1p12 604345 MAN1A2 Mannosidase, alpha, class 1A, member 2 MAN1A2 10905 ENSG00000198162 Man1a2 (MGI:104676) -chr1 117606047 117628388 1p12 1p12 613952 TENT5C, FAM46C Terminal nucleotidyltransferase 5C TENT5C 54855 ENSG00000183508 Tent5c (MGI:1921895) -chr1 117863484 117929620 1p12 1p12 618128 GDAP2, SCAR27 Ganglioside-induced differentiation-associated protein 2 GDAP2 54834 ENSG00000196505 Spinocerebellar ataxia, autosomal recessive 27, 618369 (3), Autosomal recessive Gdap2 (MGI:1338001) -chr1 117929738 117966542 1p13-p12 1p12 604737 WDR3 WD repeat-containing protein 3 WDR3 10885 ENSG00000065183 Wdr3 (MGI:2443143) -chr1 117953589 118185227 1p12 1p12 616554 SPAG17, PF6, SPGF55 Sperm-associated antigen 17 SPAG17 200162 ENSG00000155761 mutation identified in 1 SPGF55 family ?Spermatogenic failure 55, 619380 (3), Autosomal recessive Spag17 (MGI:1921612) -chr1 118883045 118989509 1p13 1p12 604127 TBX15 T-box 15 TBX15 6913 ENSG00000092607 Cousin syndrome, 260660 (3), Autosomal recessive Tbx15 (MGI:1277234) -chr1 119031215 119140787 1p13.3-p13.1 1p12 604733 WARS2, NEMMLAS Tryptophanyl-tRNA synthetase 2 WARS2 10352 ENSG00000116874 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive Wars2 (MGI:1917810) -chr1 119361912 119394129 1p13 1p12 605176 HAO2, HAOX2 Hydroxyacid oxidase 2 HAO2 51179 ENSG00000116882 Hao2 (MGI:96012) -chr1 119414930 119423033 1p13.1 1p12 613890 HSD3B2 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase, type 2 (adrenal, gonadal) HSD3B2 3284 ENSG00000203859 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3), Autosomal recessive Hsd3b6,Hsd3b5,Hsd3b4,Hsd3b3,Hsd3b2,Hsd3b1,Hsd3b9,Hsd3b8 (MGI:104645,MGI:109598,MGI:96236,MGI:96235,MGI:3782634,MGI:3711284,MGI:96234,MGI:96233) -chr1 119507202 119515057 1p13.1 1p12 109715 HSD3B1 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase, type 1 (placental, peripheral) HSD3B1 3283 ENSG00000203857 Hsd3b6,Hsd3b5,Hsd3b4,Hsd3b3,Hsd3b2,Hsd3b1,Hsd3b9,Hsd3b8 (MGI:104645,MGI:109598,MGI:96236,MGI:96235,MGI:3782634,MGI:3711284,MGI:96234,MGI:96233) -chr1 119711933 119744217 1p12 1p12 606879 PHGDH, NLS1, PHGDHD Phosphoglycerate dehydrogenase PHGDH 26227 ENSG00000092621 Neu-Laxova syndrome 1, 256520 (3), Autosomal recessive; Phosphoglycerate dehydrogenase deficiency, 601815 (3), Autosomal recessive Phgdh (MGI:1355330) -chr1 119747995 119768931 1p13-p12 1p12 600234 HMGCS2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2, mitochondrial HMGCS2 3158 ENSG00000134240 HMG-CoA synthase-2 deficiency, 605911 (3), Autosomal recessive Hmgcs2 (MGI:101939) -chr1 119794016 119811459 1p13.1-p12 1p12 609846 REG4 Regenerating islet-derived family, member 4 REG4 83998 ENSG00000134193 Reg4 (MGI:1914959) -chr1 119833708 119844723 1p12 1p12 613997 NBPF7 Neuroblastoma breakpoint family, member 7 NBPF7P 343505 -chr1 119893532 119896514 1p13-p11 1p12 604779 ADAM30 ADAM metallopeptidase domain 30 ADAM30 11085 ENSG00000134249 Adam30 (MGI:1918328) -chr1 119911552 120069661 1p12 1p12 600275 NOTCH2, AGS2, HJCYS Notch receptor 2 NOTCH2 4853 ENSG00000134250 Alagille syndrome 2, 610205 (3), Autosomal dominant; Hajdu-Cheney syndrome, 102500 (3), Autosomal dominant Notch2 (MGI:97364) -chr1 120150897 120176519 1p12 1p12 604029 SEC22B, SEC22L1 SEC22 homolog B, vesicle trafficking protein SEC22B 9554 ENSG00000265808 Sec22b (MGI:1338759) -chr1 120415026 120469675 1q21.1 1p11.2 613998 NBPF8 Neuroblastoma breakpoint family, member 8 NBPF8 728841 -chr1 120432203 120434108 1q21.1 1p11.2 608609 C1orf152, COAS3 Chromosome 1 open reading frame 152 PFN1P2 767846 ENSG00000270392 -chr1 121087344 121097160 1p12 1p11.2 601502 FCGR1B, CD34 Fc fragment of IgG receptor Ib FCGR1B 2210 ENSG00000198019 Fcgr1 (MGI:95498) -chr1 121167645 121184339 1p11 1p11.2 614711 FAM72B Family with sequence similarity 72, member B FAM72B 653820 ENSG00000188610 Fam72a (MGI:1919669) -chr1 121184974 121392873 1p12 1p11.2 614704 SRGAP2C SLIT-ROBO Rho GTPase-activating protein 2C SRGAP2C 653464 ENSG00000171943 -chr1 121700000 123400000 1p11 606190 MNRI Meningioma, radiation-induced 117192 Meningioma, radiation-induced, 606190 (2) -chr1 123400000 248956422 1q 151628 LRE2 LINE retrotransposable element-2 inserted in DMD gene -chr1 125100000 173000000 1q12-q24 605549 CORD8 Cone-rod dystrophy 8 54109 Cone-rod dystrophy 8, 605549 (2), Autosomal recessive -chr1 125100000 155100000 1q12-q21.3 612875 GNRHR2 Gonadotropin-releasing hormone receptor 2 GNRHR2 114814 ENSG00000211451 ?processed pseudogene -chr1 125100000 156600000 1q12-q22 189890 TRNL tRNA asparagine-like -chr1 143200000 147500000 1q21.1 612474 DEL1q21, C1DELq21 Chromosome 1q21.1 deletion syndrome contiguous gene deletion syndrome Chromosome 1q21.1 deletion syndrome, 612474 (4), Autosomal dominant, Isolated cases -chr1 143200000 147500000 1q21.1 612475 DUP1q21, C1DUPq21 Chromosome 1q21.1 duplication syndrome contiguous gene duplication syndrome Chromosome 1q21.1 duplication syndrome, 612475 (4), Autosomal dominant, Isolated cases -chr1 143200000 147500000 1q21.1 613017 NBLST6 Neuroblastoma, susceptibility to, 6 100306939 ?contiguous gene deletion or duplication disease {Neuroblastoma, susceptibility to, 6}, 613017 (2) -chr1 143200000 147500000 1q21.1 612970 NBPF17P, NBPF23 Neuroblastoma breakpoint family, member 17, pseudogene NBPF17P 401967 ENSG00000179571 -chr1 143200000 147500000 1q21.1 614747 UAQTL6 Uric acid concentration, serum, quantitative trait locus 6 100996935 associated with C/T variant at chr1_142697422 [Uric acid concentration, serum, QTL6], 614747 (2) -chr1 143874742 143883732 1q21 1q21.1 601503 FCGR1C, CD64 Fc fragment of IgG receptor Ic, pseudogene FCGR1CP 100132417 ENSG00000265531 -chr1 143955286 143973563 1q21.2 1q21.1 616853 FAM72C Family with sequence similarity 72, member C FAM72C 554282 ENSG00000263513 Fam72a (MGI:1919669) -chr1 143972638 144069703 1q21.1 1q21.1 614705 SRGAP2D SLIT-ROBO Rho GTPase-activating protein 2D SRGAP2D 100996712 -chr1 144372874 144373633 1q21.1 1q21.1 608608 PPIAL4A, COAS2 Peptidylprolyl isomerase A (cyclophilin A)-like 4A PPIAL4E 730262 ENSG00000271567 -chr1 144421389 144461668 1q21.1 1q21.1 610414 NBPF15, MGC8902 Neuroblastoma breakpoint family, member 15 NBPF15 284565 ENSG00000266338 contains 6 copies of DUF1220 domain -chr1 144887190 145095379 1q21.1 1q21.1 614703 SRGAP2B SLIT-ROBO Rho GTPase-activating protein 2B SRGAP2B 647135 ENSG00000196369 -chr1 145093804 145112695 1p21 1q21.1 614712 FAM72D Family with sequence similarity 72, member D FAM72D 728833 ENSG00000215784 Fam72a (MGI:1919669) -chr1 145287765 145287838 1p36.1 1q21.1 189880 TRNAN1, TRN1, TRN tRNA asparagine TRN-GTT2-7 7214 -chr1 145289899 145405777 1q21.1 1q21.1 614007 NBPF20 Neuroblastoma breakpoint family, member 20 NBPF20 100288142 ENSG00000162825 -chr1 145607986 145670976 1q21.1 1q21.1 612821 GPR89A G protein-coupled receptor 89A GPR89A 653519 ENSG00000117262 Gpr89 (MGI:1914799) -chr1 145670851 145708200 1q21 1q21.1 603831 PDZK1 PDZ domain-containing 1 PDZK1 5174 ENSG00000174827 Pdzk1 (MGI:1928901) -chr1 145719311 145739287 1q21.1 1q21.1 604463 CD160, BY55 CD160 antigen CD160 11126 ENSG00000117281 Cd160 (MGI:1860383) -chr1 145823182 145844401 1q21.1 1q21.1 617454 POLR3C, RPC62, RPC3 Polymerase III, RNA, subunit C POLR3C 10623 ENSG00000186141 Polr3c (MGI:1921664) -chr1 145848521 145859080 1q21 1q21.1 605987 PIAS3 Protein inhibitor of activated STAT3 PIAS3 10401 ENSG00000131788 Pias3 (MGI:1913126) -chr1 145891207 145910049 1q21.1 1q21.1 604042 ITGA10 Integrin, alpha-10 ITGA10 8515 ENSG00000143127 Itga10 (MGI:2153482) -chr1 145911347 145918716 1q21.1 1q21.1 603867 PEX11B, PEX14B Peroxisome biogenesis 11B PEX11B 8799 ENSG00000131779 Peroxisome biogenesis disorder 14B, 614920 (3), Autosomal recessive Pex11b (MGI:1338882) -chr1 145921555 145927483 1q12 1q21.1 605313 RBM8A, RBM8B, TAR, C1DELq21.1, DEL1q21.1 RNA-binding motif protein 8A RBM8A 9939 ENSG00000265241 pseudogene on chr.14 Thrombocytopenia-absent radius syndrome, 274000 (3), Autosomal recessive Rbm8a,Rbm8a2 (MGI:3612447,MGI:1913129) -chr1 145959036 145978847 1q21.1 1q21.1 617457 POLR3GL, SOFM Polymerase III, RNA, subunit G-like POLR3GL 84265 ENSG00000121851 Short stature, oligodontia, dysmorphic facies, and motor delay, 619234 (3), Autosomal recessive Polr3gl (MGI:1917120) -chr1 145992434 145996578 1q21 1q21.1 606599 TXNIP, VDUP1 Thioredoxin-interacting protein TXNIP 10628 ENSG00000265972 Txnip (MGI:1889549) -chr1 146017469 146021734 1q21 1q21.1 608374 HJV, HFE2A Hemojuvelin HJV 148738 ENSG00000168509 between D1S442 and D1S2347 Hemochromatosis, type 2A, 602390 (3), Autosomal recessive Hjv (MGI:1916835) -chr1 146064698 146144803 1q21.1 1q21.1 614000 NBPF10 Neuroblastoma breakpoint family, member 10 NBPF10 100132406 ENSG00000271425 -chr1 146151907 146229031 1q21.1 1q21.1 618023 NOTCH2NLA NOTCH2 N-terminal-like protein A NOTCH2NLA 388677 ENSG00000264343 -chr1 146486331 146822033 1q21.1 1q21.1 610813 HYDIN2, KIAA1864 HYDIN axonemal central pair apparatus protein 2 HYDIN2 100288805 duplicated copy 16q22.2 -chr1 146938323 146996092 1q21.1 1q21.1 608607 NBPF12, COAS1, KIAA1245 Neuroblastoma breakpoint family, member 12 NBPF12 149013 ENSG00000268043 -chr1 147155105 147173365 1q21.1 1q21.1 602741 PRKAB2 Protein kinase, AMP-activated, noncatalytic, beta-2 PRKAB2 5565 ENSG00000131791 Prkab2 (MGI:1336185) -chr1 147172746 147295761 1q21 1q21.1 613039 CHD1L, ALC1 Chromodomain helicase DNA-binding protein 1-like CHD1L 9557 ENSG00000131778 Chd1l (MGI:1915308) -chr1 147183962 147225797 1q21.1 1q21.1 603957 FMO5 Flavin-containing monooxygenase 5 FMO5 2330 ENSG00000131781 Fmo5 (MGI:1310004) -chr1 147541500 147626216 1q21 1q21.2 602597 BCL9 B-cell CLL/lymphoma-9 BCL9 607 ENSG00000116128 Bcl9 (MGI:1924828) -chr1 147626181 147670523 1q21 1q21.2 611471 ACP6, LPAP, ACPL1 Acid phosphatase 6, lysophosphatide ACP6 51205 ENSG00000162836 Acp6 (MGI:1931010) -chr1 147756198 147781126 1q21.2 1q21.2 121013 GJA5, CX40, ATFB11 Gap junction protein, alpha-5, 40kD (connexin 40) GJA5 2702 ENSG00000265107 Atrial fibrillation, familial, 11, 614049 (3), Autosomal dominant; Atrial standstill, digenic (GJA5/SCN5A), 108770 (3), Autosomal dominant Gja5 (MGI:95716) -chr1 147902794 147915286 1q21.1 1q21.2 600897 GJA8, CX50, CTRCT1, CZP1, CAE1 Gap junction membrane channel protein alpha-8 (connexin 50) GJA8 2703 ENSG00000121634 Cataract 1, multiple types, 116200 (3), Autosomal dominant Gja8 (MGI:99953) -chr1 147928419 147993591 1q21.1 1q21.2 612806 GPR89B, GPHR G protein-coupled receptor 89B GPR89B 51463 ENSG00000188092 Gpr89 (MGI:1914799) -chr1 148102150 148152280 1q21.1 1q21.2 614001 NBPF11 Neuroblastoma breakpoint family, member 11 NBPF11 200030 ENSG00000263956 -chr1 148531384 148595716 1q21.1 1q21.2 614003 NBPF14 Neuroblastoma breakpoint, member 14 NBPF14 25832 ENSG00000270629 -chr1 148595854 148712498 1q21.1 1q21.2 618024 NOTCH2NLB NOTCH2 N-terminal-like protein B NOTCH2NLB 100996763 ENSG00000286019 -chr1 148808197 149051276 1q21.1 1q21.2 608117 PDE4DIP, MMGL, KIAA0454, KIAA0477 Phosphodiesterase 4D-interacting protein PDE4DIP 9659 ENSG00000178104 Pde4dip (MGI:1891434) -chr1 149052185 149103550 1q21.1 1q21.2 613999 NBPF9 Neuroblastoma breakpoint family, member 9 NBPF9 400818 ENSG00000269713 -chr1 149390620 149471832 1q21.1 1q21.2 618025 NOTCH2NLC, NIID, ETM6, OPDM3 NOTCH2 N-terminal-like protein C NOTCH2NLC 100996717 ENSG00000286219 Tremor, hereditary essential, 6, 618866 (3), Autosomal dominant; Oculopharyngodistal myopathy 3, 619473 (3), Autosomal dominant; Neuronal intranuclear inclusion disease, 603472 (3), Autosomal dominant -chr1 149475044 149556360 1q21.1 1q21.2 614006 NBPF19 Neuroblastoma breakpoint family, member 19 NBPF19 101060226 ENSG00000271383 -chr1 149782693 149800608 1q21.2-q21.3 1q21.2 146760 FCGR1A, IGFR1, CD64 Fc fragment of IgG receptor Ia FCGR1A 2209 ENSG00000150337 [IgG receptor I, phagocytic, familial deficiency of] (3) Fcgr1 (MGI:95498) -chr1 149832656 149833051 1q21 1q21.2 142750 H4FN, H4F2 H4 histone, family 2 H4C14 8370 ENSG00000270882 100-200 histone genes; some on chromosome 6 and 12, as well as perhaps 7 -chr1 149840686 149841207 1q21 1q21.2 142780 HIST2H3C, H3F2 Histone 2, H3c H3C14 126961 ENSG00000203811 -chr1 149842217 149842749 1q21 1q21.2 142720 HIST2H2AA, H2AFO, H2A Histone 2, H2aa H2AC18 8337 ENSG00000203812 H2ac18 (MGI:96097) -chr1 149884458 149886681 1q21-q23 1q21.2 601831 HIST2H2BE, H2B Histone 2, H2be H2BC21 8349 ENSG00000184678 -chr1 149886917 149887410 1q21-q23 1q21.2 602797 HIST2H2AC, H2AFQ Histone 2, H2ac H2AC20 8338 ENSG00000184260 H2ac21,H2ac20 (MGI:2448316,MGI:2448314) -chr1 149887468 149887964 1q21 1q21.2 615014 HIST2H2AB, H2AB Histone gene cluster 2, H2A histone family, member B H2AC21 317772 ENSG00000184270 H2ac21 (MGI:2448314) -chr1 149899567 149900794 1q21.2 1q21.2 613181 BOLA1 bolA family member 1 BOLA1 51027 ENSG00000178096 Bola1 (MGI:1916418) -chr1 149903317 149917843 1q21.2 1q21.2 185860 SV2A, SV2 Synaptic vesicle glycoprotein 2A SV2A 9900 ENSG00000159164 Sv2a (MGI:1927139) -chr1 149923316 149927802 1q21.2 1q21.2 605593 SF3B4, SF3B49, SAP49, AFD1 Splicing factor 3B, subunit 4 SF3B4 10262 ENSG00000143368 Acrofacial dysostosis 1, Nager type, 154400 (3), Autosomal dominant Sf3b4 (MGI:109580) -chr1 149937811 150010775 1q21.2 1q21.2 611748 OTUD7B, CEZANNE OTU domain-containing protein 7B OTUD7B 56957 ENSG00000264522 Otud7b (MGI:2654703) -chr1 150067278 150145328 1q21-q22 1q21.2 610035 VPS45, VPS45A, SCN5 Vacuolar protein sorting 45 homolog VPS45 11311 ENSG00000136631 Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3), Autosomal recessive Vps45 (MGI:891965) -chr1 150149564 150160064 1q21.2 1q21.2 608335 PLEKHO1, CKIP1 Pleckstrin homology domain-containing protein, family O, member 1 PLEKHO1 51177 ENSG00000023902 Plekho1 (MGI:1914470) -chr1 150218416 150236132 1q22 1q21.2 609611 ANP32E, LANPL Acidic leucine-rich nuclear phosphoprotein 32 family, member E ANP32E 81611 ENSG00000143401 Anp32e (MGI:1913721) -chr1 150257257 150265861 1q21 1q21.2 604832 CA14 Carbonic anhydrase XIV CA14 23632 ENSG00000118298 Car14 (MGI:1344341) -chr1 150265403 150282178 1p36.13-q31.3 1q21.2 607629 APH1A APH1 homolog A, gamma secretase subunit APH1A 51107 ENSG00000117362 Aph1a (MGI:2385110) -chr1 150282553 150287092 1q21.2 1q21.2 615782 CIART, CHRONO, GM129 Circadian-associated repressor of transcription CIART 148523 ENSG00000159208 Ciart (MGI:2684975) -chr1 150293841 150308978 1q21 1q21.2 611984 MRPS21 Mitochondrial ribosomal protein S21 MRPS21 54460 ENSG00000266472 9 pseudogenes Mrps21 (MGI:1913542) -chr1 150321467 150353232 1q21.2 1q21.2 607301 PRPF3, HPRP3, RP18 Pre-mRNA processing factor 3 PRPF3 9129 ENSG00000117360 Retinitis pigmentosa 18, 601414 (3), Autosomal dominant Prpf3 (MGI:1918017) -chr1 150364146 150476565 1q21.3 1q21.2 614695 RPRD2 Regulation of nuclear pre-mRNA domain-containing 2 RPRD2 23248 ENSG00000163125 Rprd2 (MGI:1922387) -chr1 150487410 150507608 1q21.2 1q21.2 612805 TARS2, COXPD21 Threonyl-tRNA synthetase 2 TARS2 80222 ENSG00000143374 mutation identified in one COXPD21 family ?Combined oxidative phosphorylation deficiency 21, 615918 (3), Autosomal recessive Tars2 (MGI:1919057) -chr1 150508108 150513788 1q21 1q21.2 602201 ECM1, URBWD Extracellular matrix protein-1 ECM1 1893 ENSG00000143369 Urbach-Wiethe disease, 247100 (3), Autosomal recessive Ecm1 (MGI:103060) -chr1 150515756 150518031 1q21.2 1q21.2 616092 FALEC, FAL1 Focally amplified long noncoding RNA in epithelial cancer FALEC 100874054 ENSG00000228126 -chr1 150549377 150560936 1q21 1q21.2 610113 ADAMTSL4, TSRC1, ECTOL2 ADAMTS-like 4 ADAMTSL4 54507 ENSG00000143382 Ectopia lentis et pupillae, 225200 (3), Autosomal recessive; Ectopia lentis, isolated, autosomal recessive, 225100 (3), Autosomal recessive Adamtsl4 (MGI:2389008) -chr1 150574557 150579609 1q21 1q21.2 159552 MCL1 Myeloid cell leukemia sequence 1 (BCL2-related) MCL1 4170 ENSG00000143384 Mcl1 (MGI:101769) -chr1 150600000 155100000 1q21 611152 AD13 Alzheimer disease-13 100188837 max lod D1S498 {Alzheimer disease-13}, 611152 (2) -chr1 150600000 156600000 1q21-q22 608781 ASPG3 Asperger syndrome, susceptibility to, 3 449015 max lod at D1S484 {Asperger syndrome susceptibility 3}, 608781 (2) -chr1 150600000 165500000 1q21-q23 605833 BMND2 Bone mineral density QTL 2 338027 [Bone mineral density QTL 2], 605833 (2) -chr1 150600000 165500000 1q21-q23 608372 DFNA49 Deafness, autosomal dominant 49 317664 max lod at D1S3784 and D1S3786 Deafness, autosomal dominant 49, 608372 (2), Autosomal dominant -chr1 150600000 165500000 1q21-q23 614013 ERVK-7, HERV-KIII, HERV-K102 Endogenous retrovirus group K, member 7 ERVK-7 449619 -chr1 150600000 155100000 1q21.3 139450 HRM2 Hair morphology 2 (curly hair) 100379199 associated with rs11803731 Hair, curly, 139450 (2), Autosomal dominant -chr1 150600000 155100000 1q21 603935 PSORS4 Psoriasis susceptibility 4 10547 {Psoriasis susceptibility 4}, 603935 (2) -chr1 150600000 155100000 1q21 605642 PTCPRN, PRN1 Papillary thyroid carcinoma with papillary renal neoplasia 79052 Thyroid carcinoma, papillary, with papillary renal neoplasia, 605642 (2) -chr1 150600000 155100000 1q21 161900 RFH1, AORF Renal failure, progressive, with hypertension 59331 Nephropathy-hypertension, 161900 (2), Autosomal dominant -chr1 150600000 165500000 1q21-q23 613145 SLEB14 Systemic lupus erythematosus, susceptibility to, 14 100322878 associated with rs3093061 {Systemic lupus erythematosus, susceptibility to, 14}, 613145 (2) -chr1 150600000 156600000 1q21-q22 182269 SPRR2C Small proline-rich protein 2C SPRR2C 6702 prob. pseudogene -chr1 150621245 150629611 1q21.2 1q21.3 603061 ENSA Endosulfine, alpha ENSA 2029 ENSG00000143420 Ensa (MGI:1891189) -chr1 150646229 150697153 1q21.2 1q21.3 612208 GOLPH3L, GPP34R Golgi phosphoprotein 3-like GOLPH3L 55204 ENSG00000143457 Golph3l (MGI:1917129) -chr1 150698059 150720909 1q21.3 1q21.3 609824 HORMAD1, NOHMA HORMA domain-containing 1 HORMAD1 84072 ENSG00000143452 Hormad1 (MGI:1915231) -chr1 150730187 150765777 1q21 1q21.3 116845 CTSS Cathepsin S CTSS 1520 ENSG00000163131 Ctss (MGI:107341) -chr1 150796207 150808259 1q21 1q21.3 601105 CTSK Cathepsin K CTSK 1513 ENSG00000143387 Pycnodysostosis, 265800 (3), Autosomal recessive Ctsk (MGI:107823) -chr1 150809712 150876736 1q21 1q21.3 126110 ARNT Aryl hydrocarbon receptor nuclear translocator ARNT 405 ENSG00000143437 Arnt (MGI:88071) -chr1 150926262 150964736 1q21 1q21.3 604396 SETDB1 SET domain protein, bifurcated, 1 SETDB1 9869 ENSG00000143379 Setdb1 (MGI:1934229) -chr1 150965183 150974834 1q21.3 1q21.3 606920 CERS2, LASS2 Ceramide synthase 2 CERS2 29956 ENSG00000143418 Cers2 (MGI:1924143) -chr1 150982285 150996062 1q21 1q21.3 603319 ANXA9, ANX31 Annexin A9 (annexin XXXI) ANXA9 8416 ENSG00000143412 Anxa9 (MGI:1923711) -chr1 150996535 151008392 1q21.3 1q21.3 618407 MINDY1, FAM63A MINDY lysine-48 deubiquitinase 1 MINDY1 55793 ENSG00000143409 Mindy1 (MGI:1922257) -chr1 151008404 151035712 1q21.3 1q21.3 617413 PRUNE1, DRES17, NMIHBA Prune exopolyphosphatase 1 PRUNE1 58497 ENSG00000143363 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive Prune1 (MGI:1925152) -chr1 151036320 151047719 1q21.3 1q21.3 611275 BNIPL, BNIPS, BNIPL1, BNIPL2 BCL2/adenovirus E1B 19kD protein-interacting protein 2-like BNIPL 149428 ENSG00000163141 Bnipl (MGI:2384749) -chr1 151050979 151059625 1q21.3 1q21.3 619456 CDC42SE1, SPEC1 CDC42 small effector 1 CDC42SE1 56882 ENSG00000197622 Cdc42se1 (MGI:1889510) -chr1 151060396 151069543 1q21 1q21.3 604684 MLLT11, AF1Q Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 11 MLLT11 10962 ENSG00000213190 Mllt11 (MGI:1929671) -chr1 151131706 151148407 1q21.3 1q21.3 609294 SEMA6C, KIAA1869 Semaphorin 6C SEMA6C 10500 ENSG00000143434 Sema6c (MGI:1338032) -chr1 151156648 151159748 1q21.2-q21.3 1q21.3 612112 TNFAIP8L2, TIPE2 Tumor necrosis factor-alpha-induced protein 8-like 2 TNFAIP8L2 79626 ENSG00000163154 Tnfaip8l2 (MGI:1917019) -chr1 151166143 151170295 1q21.3 1q21.3 608095 SCNM1, MGC3180 Sodium channel modifier 1 SCNM1 79005 ENSG00000163156 Scnm1 (MGI:1341284) -chr1 151169985 151175980 1q12 1q21.3 605834 TMOD4 Tropomodulin 4, muscle TMOD4 29765 ENSG00000163157 Tmod4 (MGI:1355285) -chr1 151176303 151190209 1q21 1q21.3 600607 VPS72, CFL1, YL1 Vacuolar protein sorting 72, yeast, homolog of VPS72 6944 ENSG00000163159 Vps72 (MGI:1202305) -chr1 151197953 151249535 1q22-q24 1q21.3 603275 PIP5K1A Phosphatidylinositol-4-phosphate 5-kinase, type I, alpha PIP5K1A 8394 ENSG00000143398 Pip5k1a (MGI:107929) -chr1 151254733 151267478 1q21.3 1q21.3 601648 PSMD4, S5A, RPN10 Proteasome 26S subunit, non-ATPase, 4 PSMD4 5710 ENSG00000159352 Psmd4 (MGI:1201670) -chr1 151281521 151292175 1q21.2 1q21.3 610568 ZNF687, KIAA1441, PDB6 Zinc finger protein 687 ZNF687 57592 ENSG00000143373 fused with AML1 in t(1;21) Paget disease of bone 6, 616833 (3), Autosomal dominant Zfp687 (MGI:1925516) -chr1 151291796 151327714 1q21.1-q21.3 1q21.3 602758 PIK4CB Phosphatidylinositol 4-kinase, catalytic, beta polypeptide PI4KB 5298 ENSG00000143393 Pi4kb (MGI:1334433) -chr1 151340639 151347318 1q21.1-q21.3 1q21.3 601863 RFX5 Regulatory factor X, 5 (influences HLA class II expression) RFX5 5993 ENSG00000143390 Bare lymphocyte syndrome, type II, complementation group C, 209920 (3), Autosomal recessive; Bare lymphocyte syndrome, type II, complementation group E, 209920 (3), Autosomal recessive Rfx5 (MGI:1858421) -chr1 151364303 151372724 1q21-q22 1q21.3 604188 SELENBP1, SP56, EHMTO Selenium-binding protein 1 SELENBP1 8991 ENSG00000143416 Extraoral halitosis due to MTO deficiency, 618148 (3), Autosomal recessive Selenbp2,Selenbp1 (MGI:96825,MGI:104859) -chr1 151399572 151401936 1q21 1q21.3 602177 PSMB4, PRAAS3 Proteasome subunit, beta type, 4 PSMB4 5692 ENSG00000159377 mutation identified in 1 PRAAS3 patient and 1 digenic family ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, 617591 (3), Autosomal recessive Psmb4 (MGI:1098257) -chr1 151402723 151459493 1q21.3 1q21.3 614787 POGZ, KIAA0461, MRD37, WHSUS POGO transposable element with ZNF domain POGZ 23126 ENSG00000143442 White-Sutton syndrome, 616364 (3), Autosomal dominant Pogz (MGI:2442117) -chr1 151510857 151538691 1q21.3 1q21.3 609473 CGN, KIAA1319 Cingulin CGN 57530 ENSG00000143375 Cgn (MGI:1927237) -chr1 151540293 151583582 1q21 1q21.3 600087 TUFT1 Tuftelin 1 TUFT1 7286 ENSG00000143367 ?mutant in amelogenesis imperfecta Tuft1 (MGI:109572) -chr1 151612026 151699079 1q21.3 1q21.3 611541 SNX27, MRT1 Sorting nexin 27 SNX27 81609 ENSG00000143376 Snx27 (MGI:1923992) -chr1 151700057 151716802 1q21 1q21.3 612678 CELF3, TNRC4, BRUNOL1 CUGbp- and ELAV-like family, member 3 CELF3 11189 ENSG00000159409 Celf3 (MGI:1926034) -chr1 151759646 151763495 1q21 1q21.3 611824 MRPL9 Mitochondrial ribosomal protein L9 MRPL9 65005 ENSG00000143436 Mrpl9 (MGI:2137211) -chr1 151762968 151771329 1q21.3 1q21.3 605138 OAZ3, AZ3 Ornithine decarboxylase antizyme 3 OAZ3 51686 ENSG00000143450 Oaz3 (MGI:1858170) -chr1 151769432 151790533 1q21.3 1q21.3 609501 TDRKH Tudor and KH domains-containing protein TDRKH 11022 ENSG00000182134 Tdrkh (MGI:1919884) -chr1 151800263 151805418 1q21.3 1q21.3 609794 LINGO4, LRRN6D Leucine-rich repeat- and Ig domain-containing NOGO receptor-interacting protein 4 LINGO4 339398 ENSG00000213171 Lingo4 (MGI:2444651) -chr1 151806070 151832450 1q21 1q21.3 602943 RORC, RORG, RZRG, IMD42 RAR-related orphan receptor C RORC 6097 ENSG00000143365 Immunodeficiency 42, 616622 (3), Autosomal recessive Rorc (MGI:104856) -chr1 151847100 151853711 1q21.3 1q21.3 615653 THEM5, ACOT15 Thioesterase superfamily member 5 THEM5 284486 ENSG00000196407 Them5 (MGI:1913448) -chr1 151870865 151909510 1q21 1q21.3 606388 CTMP C-terminal modulator protein THEM4 117145 ENSG00000159445 Them4 (MGI:1923028) -chr1 151982914 151993858 1q21 1q21.3 114085 S100A10, CAL1L S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)) S100A10 6281 ENSG00000197747 on chr.3 in mouse S100a10 (MGI:1339468) -chr1 152032505 152037003 1q21 1q21.3 603114 S100A11 S100 calcium-binding protein A11 S100A11 6282 ENSG00000163191 S100a11 (MGI:1338798) -chr1 152106316 152115443 1q21.3 1q21.3 190370 TCHH, THH, THL, TRHY, UHS3 Trichohyalin TCHH 7062 ENSG00000159450 mutation identified in 1 UHS3 patient ?Uncombable hair syndrome 3, 617252 (3), Autosomal recessive Tchh (MGI:2177944) -chr1 152153594 152159227 1q21 1q21.3 613259 RPTN Repetin RPTN 126638 ENSG00000215853 Rptn (MGI:1099055) -chr1 152212075 152224192 1q21.3 1q21.3 616293 HRNR Hornerin HRNR 388697 ENSG00000197915 Hrnr (MGI:3046938) -chr1 152302164 152325238 1q21 1q21.3 135940 FLG, ATOD2 Filaggrin FLG 2312 ENSG00000143631 Ichthyosis vulgaris, 146700 (3), Autosomal dominant, Autosomal recessive; {Dermatitis, atopic, susceptibility to, 2}, 605803 (3) -chr1 152348734 152360027 1q21.3 1q21.3 616284 FLG2, IFPS, PSS6 Filaggrin family, member 2 FLG2 388698 ENSG00000143520 Peeling skin syndrome 6, 618084 (3), Autosomal recessive Flg2 (MGI:3645678) -chr1 152409242 152414262 1q21.3 1q21.3 611312 CRNN, C1orf10, PDRC1 Cornulin CRNN 49860 ENSG00000143536 Crnn (MGI:2685861) -chr1 152510802 152512176 1q21 1q21.3 612619 LCE5A, LEP18 Late cornified envelope protein 5A LCE5A 254910 ENSG00000186207 Lce1g,Lce1f,Lce1e (MGI:1913445,MGI:1915944,MGI:1915078) -chr1 152514481 152516009 1q21.3 1q21.3 617426 CRCT1, NICE1, C1orf42 Cysteine-rich c-terminal 1 CRCT1 54544 ENSG00000169509 Crct1 (MGI:1921425) -chr1 152565653 152566779 1q21 1q21.3 612617 LCE3E, LEP17 Late cornified envelope protein 3E LCE3E 353145 ENSG00000185966 Lce3b,Lce3a,Lce3d,Lce3c,Lce3f,Lce3e (MGI:2135932,MGI:3642919,MGI:1916770,MGI:1913594,MGI:3645650,MGI:1916764) -chr1 152579380 152580515 1q21 1q21.3 612616 LCE3D, LEP16 Late cornified envelope protein 3D LCE3D 84648 ENSG00000163202 within intron 2 of LCE3C Lce3b,Lce3a,Lce3d,Lce3c,Lce3f,Lce3e (MGI:2135932,MGI:3642919,MGI:1916770,MGI:1913594,MGI:3645650,MGI:1916764) -chr1 152600233 152601085 1q21 1q21.3 612615 LCE3C, LEP15 Late cornified envelope protein 3C LCE3C 353144 ENSG00000244057 Lce3b,Lce3a,Lce3d,Lce3c,Lce3f,Lce3e (MGI:2135932,MGI:3642919,MGI:1916770,MGI:1913594,MGI:3645650,MGI:1916764) -chr1 152613810 152614097 1q21 1q21.3 612614 LCE3B, LEP14 Late cornified envelope protein 3B LCE3B 353143 ENSG00000187238 Lce3b,Lce3a,Lce3d,Lce3c,Lce3f,Lce3e (MGI:2135932,MGI:3642919,MGI:1916770,MGI:1913594,MGI:3645650,MGI:1916764) -chr1 152622833 152623102 1q21 1q21.3 612613 LCE3A, LEP13 Late cornified envelope protein 3A LCE3A 353142 ENSG00000185962 -chr1 152663379 152664658 1q21 1q21.3 612612 LCE2D, LEP12 Late cornified envelope protein 2D LCE2D 353141 ENSG00000187223 Lce1g,Lce1f,Lce1e (MGI:1913445,MGI:1915944,MGI:1915078) -chr1 152675278 152676568 1q21 1q21.3 612611 LCE2C, LEP11 Late cornified envelope protein 2C LCE2C 353140 ENSG00000187180 Lce1g,Lce1f,Lce1e (MGI:1913445,MGI:1915944,MGI:1915078) -chr1 152686122 152687396 1q21 1q21.3 612610 LCE2B, LEP10, XP5 Late cornified envelope protein 2B LCE2B 26239 ENSG00000159455 Lce1g,Lce1e (MGI:1913445,MGI:1915944) -chr1 152698344 152699441 1q21 1q21.3 612609 LCE2A, LEP9 Late cornified envelope protein 2A LCE2A 353139 ENSG00000187173 Lce1g,Lce1e (MGI:1913445,MGI:1915944) -chr1 152708159 152709433 1q21 1q21.3 612618 LCE4A, LEP8 Late cornified envelope protein 4A LCE4A 199834 ENSG00000187170 -chr1 152758024 152762052 1q21 1q21.3 613260 KPRP Keratinocyte proline-rich protein KPRP 448834 ENSG00000203786 Kprp (MGI:1920981) -chr1 152775139 152777023 1q21 1q21.3 612608 LCE1F, LEP6 Late cornified envelope protein 1F LCE1F 353137 ENSG00000240386 -chr1 152786256 152788425 1q21 1q21.3 612607 LCE1E Late cornified envelope protein 1E LCE1E 353135 ENSG00000186226 Lce1f (MGI:1915078) -chr1 152796720 152798180 1q21 1q21.3 612606 LCE1D, LEP4 Late cornified envelope protein 1D LCE1D 353134 ENSG00000172155 Lce1f (MGI:1915078) -chr1 152804831 152806650 1q21 1q21.3 612605 LCE1C, LEP3 Late cornified envelope 1C LCE1C 353133 ENSG00000197084 Lce1f (MGI:1915078) -chr1 152811970 152813107 1q21 1q21.3 612604 LCE1B, LEP2 Late cornified envelope protein 1B LCE1B 353132 ENSG00000196734 Lce1f (MGI:1915078) -chr1 152827472 152828096 1q21 1q21.3 612603 LCE1A, LEP1 Late cornified envelope protein 1A LCE1A 353131 ENSG00000186844 Lce1f (MGI:1915078) -chr1 152878321 152885046 1q21 1q21.3 601148 SMCP, MCSP, MCS Sperm mitochondria-associated cysteine-rich protein SMCP 4184 ENSG00000163206 Smcp (MGI:96945) -chr1 152908545 152911885 1q21 1q21.3 147360 IVL Involucrin IVL 3713 ENSG00000163207 Ivl (MGI:96626) -chr1 152968754 152972601 1q21 1q21.3 616363 SPRR4 Small proline-rich protein 4 SPRR4 163778 ENSG00000184148 Sprr4 (MGI:2654508) -chr1 152984080 152985813 1q21-q22 1q21.3 182265 SPRR1A Small proline-rich protein 1A SPRR1A 6698 ENSG00000169474 Sprr1b,Sprr1a (MGI:106659,MGI:106660) -chr1 153001748 153003855 1q21-q22 1q21.3 182271 SPRR3 Small proline-rich protein 3 SPRR3 6707 ENSG00000163209 Sprr3 (MGI:1330237) -chr1 153031202 153032899 1q21-q22 1q21.3 182266 SPRR1B Small proline-rich protein 1B SPRR1B 6699 ENSG00000169469 Sprr1b,Sprr1a (MGI:106659,MGI:106660) -chr1 153039731 153041119 1q21.3 1q21.3 617587 SPRR2D Small proline-rich protein 2D SPRR2D 6703 ENSG00000163216 -chr1 153056119 153057511 1q21-q22 1q21.3 182267 SPRR2A Small proline-rich protein 2A SPRR2A 6700 ENSG00000241794 about 7 SPRR2 genes Sprr2d (MGI:1330347) -chr1 153070225 153071610 1q21-q22 1q21.3 182268 SPRR2B Small proline-rich protein 2B SPRR2B 6701 ENSG00000196805 Sprr2d (MGI:1330347) -chr1 153093134 153094525 1q21.3 1q21.3 617588 SPRR2E Small proline-rich protein 2E SPRR2E 6704 ENSG00000203785 Sprr2d (MGI:1330347) -chr1 153112120 153119467 1q21.3 1q21.3 617589 SPRR2F Small proline-rich protein 2F SPRR2F 6705 ENSG00000244094 Sprr2d (MGI:1330347) -chr1 153149581 153195376 1q21.3 1q21.3 617590 SPRR2G Small proline-rich protein 2G SPRR2G 6706 ENSG00000159516 -chr1 153203429 153205119 1q21 1q21.3 611042 LELP1 Late cornified envelope-like proline-rich 1 LELP1 149018 ENSG00000203784 Lelp1 (MGI:1916582) -chr1 153259634 153262124 1q21 1q21.3 152445 LOR Loricrin LORICRIN 4014 ENSG00000203782 Vohwinkel syndrome with ichthyosis, 604117 (3), Autosomal dominant Lor (MGI:96816) -chr1 153297115 153312974 1q21 1q21.3 608197 PGRPIA Peptidoglycan recognition protein, intermediate, alpha PGLYRP3 114771 ENSG00000159527 Pglyrp3 (MGI:2685266) -chr1 153327409 153348843 1q21 1q21.3 608198 PGRPIB Peptidoglycan recognition protein, intermediate, beta PGLYRP4 57115 ENSG00000163218 Pglyrp4 (MGI:2686324) -chr1 153357853 153361022 1q12-q22 1q21.3 123886 S100A9, CAGB, CFAG S100 calcium-binding protein A9 (calgranulin B) S100A9 6280 ENSG00000163220 S100a9 (MGI:1338947) -chr1 153373710 153375620 1q21 1q21.3 603112 S100A12, CAAF1, CGRP S100 calcium-binding protein A12 S100A12 6283 ENSG00000163221 between S100A8 and S100A9 -chr1 153390031 153422582 1q21 1q21.3 123885 S100A8, CAGA, CFAG S100 calcium-binding protein A8 (calgranulin A) S100A8 6279 ENSG00000143546 over-expressed in 1q21-linked psoriasis S100a8 (MGI:88244) -chr1 153416519 153423221 1q21.3 1q21.3 617427 S100A7A, S100A15, NICE2 S100 calcium-binding protein A7A S100A7A 338324 ENSG00000184330 S100a7a (MGI:2687194) -chr1 153457743 153460650 1q21 1q21.3 600353 S100A7 S100 calcium-binding protein A7 S100A7 6278 ENSG00000143556 S100a7a (MGI:2687194) -chr1 153534598 153536048 1q21 1q21.3 114110 S100A6, CACY S100 calcium-binding protein A6 (calcyclin) S100A6 6277 ENSG00000197956 S100a6 (MGI:1339467) -chr1 153537113 153543513 1q21 1q21.3 176991 S100A5, S100D S100 calcium-binding protein A5 S100A5 6276 ENSG00000196420 S100a5 (MGI:1338915) -chr1 153543620 153545805 1q21 1q21.3 114210 S100A4, CAPL S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog) S100A4 6275 ENSG00000196154 S100a4 (MGI:1330282) -chr1 153547328 153549257 1q21 1q21.3 176992 S100A3, S100E S100 calcium-binding protein A3 S100A3 6274 ENSG00000188015 S100a3 (MGI:1338849) -chr1 153561107 153565843 1q21 1q21.3 176993 S100A2, S100L S100 calcium-binding protein A2 S100A2 6273 ENSG00000196754 S100a2 (MGI:3510999) -chr1 153606882 153613136 1p21.3 1q21.3 617437 S100A16, AAG13 S100 calcium-binding protein A16 S100A16 140576 ENSG00000188643 S100a16 (MGI:1915110) -chr1 153614254 153616916 1q21 1q21.3 607986 S100A14, BCMP84 S100 Calcium-binding protein A14 S100A14 57402 ENSG00000189334 S100a14 (MGI:1913416) -chr1 153618798 153634360 1q21 1q21.3 601989 S100A13 S100 calcium-binding protein A13 S100A13 6284 ENSG00000189171 S100a13 (MGI:109581) -chr1 153628433 153632038 1q21 1q21.3 176940 S100A1 S100 protein, alpha polypeptide S100A1 6271 ENSG00000160678 S100a1 (MGI:1338917) -chr1 153634065 153646305 1q21.3 1q21.3 614206 CHTOP, C10orf77, SRAG, FOP Chromatin target of PRMT1 CHTOP 26097 ENSG00000160679 Chtop (MGI:1913761) -chr1 153658653 153661851 1q22 1q21.3 607007 SNAPIN, SNAPAP, BLOC1S7, BLOS7 SNAP-associated protein SNAPIN 23557 ENSG00000143553 Snapin (MGI:1333745) -chr1 153661787 153670992 1q21.3 1q21.3 603181 ILF2, NF45 Interleukin enhancer-binding factor 2 ILF2 3608 ENSG00000143621 Ilf2 (MGI:1915031) -chr1 153678648 153693991 1q21-q22 1q21.3 108960 NPR1, ANPRA Natriuretic peptide receptor A/guanylate cyclase A NPR1 4881 ENSG00000169418 Npr1 (MGI:97371) -chr1 153728049 153774807 1q21.3 1q21.3 611347 INTS3, INT3, SOSSA Integrator complex subunit 3 INTS3 65123 ENSG00000143624 Ints3 (MGI:2140050) -chr1 153775406 153780156 1q21.3 1q21.3 604193 SLC27A3, FATP3 Solute carrier family 27 (fatty acid transporter), member 3 SLC27A3 11000 ENSG00000143554 Slc27a3 (MGI:1347358) -chr1 153804724 153923952 1q23.1 1q21.3 614998 GATAD2B, KIAA1150, p68, GANDS GATA zinc finger domain-containing protein 2B GATAD2B 57459 ENSG00000143614 GAND syndrome, 615074 (3), Autosomal dominant Gatad2b (MGI:2443225) -chr1 153947674 153958642 1q21.3 1q21.3 608972 CRTC2, TORC2 CREB-regulated transcription coactivator 2 CRTC2 200186 ENSG00000160741 Crtc2 (MGI:1921593) -chr1 153959109 153968183 1q21 1q21.3 604740 SLC39A1, ZIRTL Solute carrier family 39 (zinc transporter), member 3 (zinc/iron-regulated transporter-like) SLC39A1 27173 ENSG00000143570 REc Slc39a1 (MGI:1353474) -chr1 153967486 153974363 1q21.3 1q21.3 607138 CREB3L4, CREB4, AIBZIP cAMP responsive element binding protein 3-like 4 CREB3L4 148327 ENSG00000143578 Creb3l4 (MGI:1916603) -chr1 153974268 153977673 1q21 1q21.3 604671 JTB, PAR Jumping translocation breakpoint JTB 10899 ENSG00000143543 Jtb (MGI:1346082) -chr1 153981649 153990643 1q21.3 1q21.3 602672 RAB13 RAB13, member RAS oncogene family RAB13 5872 ENSG00000143545 previously assigned to 12q13 by in situ hybridization Rab13 (MGI:1927232) -chr1 153990761 153992154 1q21 1q21.3 603702 RPS27, MPS1, DBA17 Ribosomal protein S27 RPS27 6232 ENSG00000177954 mutation identified in 1 DBA17 patient ?Diamond-Blackfan anemia 17, 617409 (3), Autosomal dominant Rps27,Rps27rt (MGI:1888676,MGI:3704345) -chr1 154155307 154192099 1q22-q23 1q21.3 191030 TPM3, NEM1, CFTD, CAPM1 Tropomyosin 3 TPM3 7170 ENSG00000143549 TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd CAP myopathy 1, 609284 (3), Autosomal dominant, Autosomal recessive; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal dominant, Autosomal recessive; Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3), Autosomal dominant, Autosomal recessive Tpm3 (MGI:1890149) -chr1 154206719 154220589 1q21.3 1q21.3 617428 C1orf43, NS5ATP4, NICE3 Chromosome 1 open reading frame 43 C1orf43 25912 ENSG00000143612 4933434E20Rik (MGI:1914027) -chr1 154220171 154271509 1q21.3 1q21.3 616472 UBAP2L, NICE4 Ubiquitin-associated protein 2-like UBAP2L 9898 ENSG00000143569 Ubap2l (MGI:1921633) -chr1 154272628 154275874 1q21.3 1q21.3 605998 HAX1, SCN3 HCLS1-associated protein X1 HAX1 10456 ENSG00000143575 Neutropenia, severe congenital 3, autosomal recessive, 610738 (3), Autosomal recessive Hax1 (MGI:1346319) -chr1 154321058 154325324 1q21.3 1q21.3 606578 AQP10 Aquaporin 10 AQP10 89872 ENSG00000143595 -chr1 154325524 154351303 1q21.3 1q21.3 605867 ATP8B2, ATPID ATPase, class I, type 8B, member 2 ATP8B2 57198 ENSG00000143515 Atp8b2 (MGI:1859660) -chr1 154405342 154469449 1q21.3 1q21.3 147880 IL6R, IL6RQ, IL6QTL, HIES5 Interleukin-6 receptor IL6R 3570 ENSG00000160712 IL6R-like gene on chr.9 [Interleukin 6, serum level of, QTL], 614752 (3); Hyper-IgE recurrent infection syndrome 5, autosomal recessive, 618944 (3), Autosomal recessive; [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3) Il6ra (MGI:105304) -chr1 154467194 154502559 1q21.3 1q21.3 610482 SHE SH2 domain-containing protein E SHE 126669 ENSG00000169291 She (MGI:1099462) -chr1 154548576 154558661 1q21.3 1q21.3 617429 UBE2Q1, GTAP, NICE5 Ubiquitin-conjugating enzyme E2Q family member 1 UBE2Q1 55585 ENSG00000160714 Ube2q1 (MGI:1917343) -chr1 154567777 154584707 1q21 1q21.3 118507 CHRNB2, EFNL3 Cholinergic receptor, nicotinic, beta polypeptide-2 CHRNB2 1141 ENSG00000160716 linked to AMY in mouse Epilepsy, nocturnal frontal lobe, 3, 605375 (3) Chrnb2 (MGI:87891) -chr1 154582056 154627996 1q21.3 1q21.3 146920 ADAR, DRADA, DSH, DSRAD, IFI4, G1P1, AGS6 Adenosine deaminase, RNA-specific ADAR 103 ENSG00000160710 Dyschromatosis symmetrica hereditaria, 127400 (3), Autosomal dominant; Aicardi-Goutieres syndrome 6, 615010 (3), Autosomal recessive Adar (MGI:1889575) -chr1 154697454 154870280 1q21.3 1q21.3 602983 KCNN3, SK3, SKCA3, ZLS3 Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3 KCNN3 3782 ENSG00000143603 Zimmermann-Laband syndrome 3, 618658 (3), Autosomal dominant Kcnn3 (MGI:2153183) -chr1 154924739 154942657 1q21.3 1q21.3 607622 PMVK, PMK, POROK1 Phosphomevalonate kinase PMVK 10654 ENSG00000163344 Porokeratosis 1, multiple types, 175800 (3), Autosomal dominant Pmvk (MGI:1915853) -chr1 154944079 154956098 1q21.3 1q21.3 618819 PBXIP1, HPIP PBX homeobox-interacting protein 1 PBXIP1 57326 ENSG00000163346 Pbxip1 (MGI:2441670) -chr1 154957025 154961781 1q21.3 1q21.3 606903 PYGO2 Pygopus, Drosophila, homolog of, 2 PYGO2 90780 ENSG00000163348 Pygo2 (MGI:1916161) -chr1 154962297 154974491 1q21 1q21.3 600560 SHC1 SHC (Src homology 2 domain-containing) transforming protein-1 SHC1 6464 ENSG00000160691 Shc1 (MGI:98296) -chr1 154974680 154979250 1q21.3 1q21.3 116900 CKS1B, CKS1 CDC28 protein kinase 1B CKS1B 1163 ENSG00000173207 previously to 8q21 by FISH Cks1brt,Cks1b (MGI:1889208,MGI:3643620) -chr1 154983343 154993110 1q21.3 1q21.3 610595 FLAD1, FADS, LSMFLAD Flavin adenine dinucleotide synthetase 1 FLAD1 80308 ENSG00000160688 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive Flad1 (MGI:2443030) -chr1 154993585 154994320 1q22 1q21.3 607377 LENEP, LEP503 Lens epithelial protein LENEP 55891 ENSG00000163352 Lenep (MGI:1930020) -chr1 155002627 155018522 1q21.3 1q21.3 607646 ZBTB7B, ZFP67, CKROX, THPOK Zinc finger- and BTB domain-containing protein 7B ZBTB7B 51043 ENSG00000160685 Zbtb7b (MGI:102755) -chr1 155051315 155062774 1q21.3 1q21.3 605548 ADAM15, MDC15 ADAM metallopeptidase domain 15 ADAM15 8751 ENSG00000143537 Adam15 (MGI:1333882) -chr1 155063739 155069552 1q21-q22 1q21.3 601380 EFNA4, EPLG4 eph-related receptor tyrosine kinase ligand 4 (ephrin-A4) EFNA4 1945 ENSG00000243364 Efna4 (MGI:106643) -chr1 155078836 155087537 1q21-q22 1q21.3 601381 EFNA3, EPLG3 eph-related receptor tyrosine kinase ligand 3 (ephrin A3) EFNA3 1944 ENSG00000143590 Efna3 (MGI:106644) -chr1 155127875 155134898 1q21-q22 1q22 191164 EFNA1, EPLG1, TNFAIP4 eph-related receptor tyrosine kinase ligand 1 (tumor necrosis factor, alpha-induced protein 4) EFNA1 1942 ENSG00000169242 Efna1 (MGI:103236) -chr1 155135374 155138852 1q22 1q22 613683 SLC50A1, RAG1AP1 Solute carrier family 50 (sugar transporter), member 1 SLC50A1 55974 ENSG00000169241 Slc50a1 (MGI:107417) -chr1 155139890 155140572 1q12-q21 1q22 605951 DPM3, MDDGC15, MDDGB15 Dolichyl-phosphate mannosyltransferase 3 DPM3 54344 ENSG00000179085 mutation identified in 1 MDDGB15 patient ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 (3), Autosomal recessive Dpm3 (MGI:1915813) -chr1 155169407 155173303 1q22 1q22 619029 KRTCAP2, KCP2 Keratinocyte-associated protein 2 KRTCAP2 200185 ENSG00000163463 Krtcap2 (MGI:1913309) -chr1 155173380 155184970 1q21 1q22 600986 GENEY Gene Y TRIM46 80128 ENSG00000163462 Trim46 (MGI:2673000) -chr1 155185823 155192914 1q21 1q22 158340 MUC1, PUM, ADTKD2 Mucin 1, cell surface associated MUC1 4582 ENSG00000185499 5cM proximal to SPTA1 Tubulointerstitial kidney disease, autosomal dominant, 2, 174000 (3), Autosomal dominant Muc1 (MGI:97231) -chr1 155195587 155209179 1q21 1q22 188062 THBS3, TSP3 Thrombospondin 3 THBS3 7059 ENSG00000169231 Thbs3 (MGI:98739) -chr1 155208694 155213838 1q21 1q22 600605 MTX1, MTXN Metaxin 1 MTX1 4580 ENSG00000173171 between GBA and TSP3 Mtx1 (MGI:103025) -chr1 155234451 155244626 1q21 1q22 606463 GBA Glucosidase, acid beta GBA 2629 ENSG00000177628 pseudogene GBAP ~16kb 3' to GBA {Lewy body dementia, susceptibility to}, 127750 (3), Autosomal dominant; Gaucher disease, type II, 230900 (3), Autosomal recessive; Gaucher disease, type IIIC, 231005 (3), Autosomal recessive; Gaucher disease, type III, 231000 (3), Autosomal recessive; Gaucher disease, type I, 230800 (3), Autosomal recessive; Gaucher disease, perinatal lethal, 608013 (3), Autosomal recessive; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Autosomal dominant, Multifactorial Gba (MGI:95665) -chr1 155247204 155255891 1q22 1q22 619447 FAM189B, COTE1 Family with sequence similarity 189, member B FAM189B 10712 ENSG00000160767 Fam189b (MGI:1915771) -chr1 155255980 155262359 1q21 1q22 606913 SCAMP3, PROPIN1 Secretory carrier membrane protein 3 SCAMP3 10067 ENSG00000116521 Scamp3 (MGI:1346346) -chr1 155262867 155273503 1p31 1q22 602989 CLK2 CDC-like kinase 2 CLK2 1196 ENSG00000176444 near GDLD and PRKAA2; conflicting assignment 1q21 Clk2 (MGI:1098669) -chr1 155277426 155289847 1q22 1q22 609973 HCN3, KIAA1535 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 HCN3 57657 ENSG00000143630 Hcn3 (MGI:1298211) -chr1 155289292 155301437 1q21 1q22 609712 PKLR, PK1 Pyruvate kinase, liver and RBC type PKLR 5313 ENSG00000143627 Adenosine triphosphate, elevated, of erythrocytes, 102900 (3), Autosomal dominant; Pyruvate kinase deficiency, 266200 (3), Autosomal recessive Pklr (MGI:97604) -chr1 155308800 155320664 1q22 1q22 134629 FDPS, FPS, POROK9 Farnesyl diphosphate synthase FDPS 2224 ENSG00000160752 Porokeratosis 9, multiple types, 616631 (3), Autosomal dominant Fdps (MGI:104888) -chr1 155320893 155331117 1q22 1q22 617318 RUSC1, NESCA RUN domain- and SH3 domain-containing protein 1 RUSC1 23623 ENSG00000160753 Rusc1 (MGI:1919546) -chr1 155335262 155563159 1q22 1q22 607999 ASH1L, KIAA1420, ASH1, MRD52 ASH1-like histone lysine methyltransferase ASH1L 55870 ENSG00000116539 Mental retardation, autosomal dominant 52, 617796 (3), Autosomal dominant Ash1l (MGI:2183158) -chr1 155610169 155614966 1q22 1q22 617619 MSTO1, MMYAT Misato 1, mitochondrial distribution and morphology regulator MSTO1 55154 ENSG00000125459 Myopathy, mitochondrial, and ataxia, 617675 (3), Autosomal dominant, Autosomal recessive Msto1 (MGI:2385175) -chr1 155659441 155688995 1q22 1q22 607860 YY1AP1, YAP, HCCA2, GRNG YY1 associated protein 1 YY1AP1 55249 ENSG00000163374 Grange syndrome, 602531 (3), Autosomal recessive Gon4l (MGI:1917579) -chr1 155687901 155739009 1q21 1q22 602074 DAP3 Death associated protein 3 DAP3 7818 ENSG00000132676 Dap3 (MGI:1929538) -chr1 155749658 155859430 1q22 1q22 610393 GON4L, KIAA1606 GON4-like protein GON4L 54856 ENSG00000116580 Gon4l (MGI:1917579) -chr1 155897807 155911348 1q22 1q22 609591 RIT1, RIT, ROC1, NS8 Ric-like protein without CAAX motif 1 RIT1 6016 ENSG00000143622 Noonan syndrome 8, 615355 (3), Autosomal dominant Rit1 (MGI:108053) -chr1 155913044 155934412 1q22 1q22 619370 KHDC4, KIAA0907, BLOM7 KH domain-containing protein 4, pre-mRNA splicing factor KHDC4 22889 ENSG00000132680 Khdc4 (MGI:1921450) -chr1 155941637 155943086 1q22 1q22 609043 RXFP4, RLN3R2, GPR100, GPCR142 Relaxin/insulin-like family peptide receptor 4 RXFP4 339403 ENSG00000173080 Rxfp4 (MGI:2182926) -chr1 155946850 155991261 1q21-q22 1q22 607560 ARHGEF2, GEFH1, KIAA0651, NEDMHM RHO guanine nucleotide exchange factor 2 ARHGEF2 9181 ENSG00000116584 mutation identified in 1 NEDMHM family ?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 (3), Autosomal recessive Arhgef2 (MGI:103264) -chr1 156009047 156020950 1q21-q23 1q22 600867 SSR2 Signal sequence receptor, beta SSR2 6746 ENSG00000163479 Ssr2 (MGI:1913506) -chr1 156033128 156053797 1q21 1q22 605440 UBQLN4, A1U, C1orf6 Ubiquitin 4 UBQLN4 56893 ENSG00000160803 Ubqln4 (MGI:2150152) -chr1 156054781 156058505 1q22 1q22 610389 LAMTOR2, MAPBPIP, p14, Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 LAMTOR2 28956 ENSG00000116586 mutation identified in 1 family Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3), Autosomal recessive Lamtor2 (MGI:1932697) -chr1 156061159 156070503 1q22 1q22 612942 RAB25, RAB11C Ras-associated protein RAB25 RAB25 57111 ENSG00000132698 Rab25 (MGI:1858203) -chr1 156072012 156082464 1q22 1q22 611007 MEX3A Mex-3, C. elegans, homolog of, A MEX3A 92312 ENSG00000254726 Mex3a (MGI:1919890) -chr1 156082572 156140080 1q21.2 1q22 150330 LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS Lamin A/C LMNA 4000 ENSG00000160789 Mandibuloacral dysplasia, 248370 (3), Autosomal recessive; Heart-hand syndrome, Slovenian type, 610140 (3), Autosomal dominant; Cardiomyopathy, dilated, 1A, 115200 (3), Autosomal dominant; Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3), Autosomal recessive; Charcot-Marie-Tooth disease, type 2B1, 605588 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3), Autosomal dominant; Hutchinson-Gilford progeria, 176670 (3), Autosomal dominant; Lipodystrophy, familial partial, type 2, 151660 (3), Autosomal dominant; Muscular dystrophy, congenital, 613205 (3), Autosomal dominant; Malouf syndrome, 212112 (3), Autosomal dominant Lmna (MGI:96794) -chr1 156149671 156177745 1q22 1q22 607292 SEMA4A, SEMB, RP35, CORD10 Semaphorin 4A SEMA4A 64218 ENSG00000196189 Retinitis pigmentosa 35, 610282 (3), Autosomal dominant, Autosomal recessive; Cone-rod dystrophy 10, 610283 (3), Autosomal recessive Sema4a (MGI:107560) -chr1 156194088 156212795 1q22 1q22 610824 SLC25A44 Solute carrier family 25, member 44 SLC25A44 9673 ENSG00000160785 Slc25a44 (MGI:2444391) -chr1 156213006 156240041 1q12 1q22 609176 PMF1 Polyamine-modulated factor 1 PMF1 11243 ENSG00000160783 Pmf1 (MGI:1914287) -chr1 156242183 156243316 1q25-q31 1q22 112260 BGLAP Bone gamma-carboxyglutamic acid protein BGLAP 632 ENSG00000242252 Bglap3,Bglap2,Bglap (MGI:88157,MGI:88155,MGI:88156) -chr1 156243319 156248521 1q22 1q22 614579 PAQR6 Progestin and ADIPOQ receptor family, member 6 PAQR6 79957 ENSG00000160781 Paqr6 (MGI:1916207) -chr1 156249223 156291515 1q21.2 1q22 610962 SMG5, EST1B, KIAA1089 SMG5 nonsense-mediated nRNA decay factor SMG5 23381 ENSG00000198952 Smg5 (MGI:2447364) -chr1 156282931 156292442 1q23.1 1q22 615531 TMEM79, MATT Transmembrane protein 79 TMEM79 84283 ENSG00000163472 Tmem79 (MGI:1919163) -chr1 156308967 156338291 1q23 1q22 600114 CCT3, TRIC5 Chaperonin-containing TCP1, subunit 3, gamma (TCP1 (t-complex-1) ring complex, polypeptide 5) CCT3 7203 ENSG00000163468 Cct3 (MGI:104708) -chr1 156366043 156385218 1q21.3 1q22 607079 RHBG Rhesus blood group, B glycoprotein RHBG 57127 ENSG00000132677 Rhbg (MGI:1927379) -chr1 156404251 156429547 1q22 1q22 618747 C1orf61, CROC4 Chromosome 1 open reading frame 61 MIR9-1HG 10485 ENSG00000125462 -chr1 156420340 156420428 1q22 1q22 611186 MIR9-1, MIRN9-1 Micro RNA 9-1 MIR9-1 407046 ENSG00000207933 Mir9-1 (MGI:2676911) -chr1 156463726 156500839 1q12-q23 1q22 600663 MEF2D MADS box transcription enhancer factor 2, polypeptide D (myocyte enhancer factor 2D) MEF2D 4209 ENSG00000116604 Mef2d (MGI:99533) -chr1 156591775 156599817 1q21 1q22 608862 NAXE, APOA1BP, AIBP, PEBEL NAD(P)HX epimerase NAXE 128240 ENSG00000163382 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive Naxe (MGI:2180167) -chr1 156642116 156659527 1q23.1 1q23.1 600347 BCAN Brevican BCAN 63827 ENSG00000132692 Bcan (MGI:1096385) -chr1 156668762 156677406 1q23.1 1q23.1 600915 NES Nestin NES 10763 ENSG00000132688 Nes (MGI:101784) -chr1 156699605 156705783 1q21.3 1q23.1 180231 CRABP2, RBP6 Cellular retinoic acid-binding protein-2 CRABP2 1382 ENSG00000143320 Crabp2 (MGI:88491) -chr1 156721890 156728765 1q23.1 1q23.1 611930 ISG20L2 Interferon-stimulated exonuclease gene 20-kD-like 2 ISG20L2 81875 ENSG00000143319 Isg20l2 (MGI:2140076) -chr1 156737302 156741266 1q21-q22 1q23.1 611836 MRPL24 Mitochondrial ribosomal protein L24 MRPL24 79590 ENSG00000143314 Mrpl24 (MGI:1914957) -chr1 156742106 156752447 1q21 1q23.1 600339 HDGF Hepatoma-derived growth factor HDGF 3068 ENSG00000143321 previously assigned to Chr.X Hdgf (MGI:1194494) -chr1 156767534 156800814 1q21 1q23.1 179755 PRCC, RCCP1 Proline-rich mitotic checkpoint control factor PRCC 5546 ENSG00000143294 t(X;1)(p11;q21); fuses with TFE3 in RCCP Renal cell carcinoma, papillary, 605074 (3) Prcc (MGI:2137738) -chr1 156806237 156816852 1q21 1q23.1 604514 SH2D2A, TSAD SH2 domain protein 2A SH2D2A 9047 ENSG00000027869 Sh2d2a (MGI:1351596) -chr1 156815749 156881849 1q21-q22 1q23.1 191315 NTRK1, TRKA Neurotrophic tyrosine kinase, receptor, type 1 NTRK1 4914 ENSG00000198400 TRK = chimera of TPM3 and NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3), Autosomal recessive Ntrk1 (MGI:97383) -chr1 156840062 156859116 1q21-q23 1q23.1 147671 INSRR, IRR Insulin receptor-related receptor INSRR 3645 ENSG00000027644 Insrr (MGI:1346037) -chr1 156893696 156916428 1q23.1 1q23.1 610278 PEAR1 Platelet endothelial aggregation receptor 1 PEAR1 375033 ENSG00000187800 Pear1 (MGI:1920432) -chr1 156934839 157046902 1q23.1 1q23.1 605708 ARHGEF11, GTRAP48, KIAA0380 Rho guanine nucleotide exchange factor 11 ARHGEF11 9826 ENSG00000132694 Arhgef11 (MGI:2441869) -chr1 157121190 157138574 1q21-q23 1q23.1 164873 ETV3, PE1 ETS variant transcription factor 3 ETV3 2117 ENSG00000117036 Etv3 (MGI:1350926) -chr1 157513376 157552532 1q21 1q23.1 605877 IRTA2 Immunoglobulin superfamily receptor translocation-associated gene 2 FCRL5 83416 ENSG00000143297 Fcrl5 (MGI:3053558) -chr1 157573746 157598084 1q21 1q23.1 605876 IRTA1 Immunoglobulin superfamily receptor translocation-associated gene 1 FCRL4 83417 ENSG00000163518 fused with IGHA1 in multiple myeloma -chr1 157676480 157700984 1q21.2-q22 1q23.1 606510 FCRH3 Fc receptor-like protein 3 FCRL3 115352 ENSG00000160856 -chr1 157745732 157777471 1q21.2-q22 1q23.1 606509 SPAP1, SPAP1A, SPAP1B, SPAP1C SH2 domain-containing phosphatase anchor protein 1 FCRL2 79368 ENSG00000132704 Fcrls (MGI:1933397) -chr1 157792248 157820133 1q21.2-q22 1q23.1 606508 FCRL1, FCRH1 Fc receptor-like protein 1 FCRL1 115350 ENSG00000163534 Fcrl1 (MGI:2442862) -chr1 157827067 157841843 1q21-q23 1q23.1 602592 CD5L CD5 antigen-like (scavenger receptor cysteine rich family) CD5L 922 ENSG00000073754 Cd5l (MGI:1334419) -chr1 157993612 158100261 1q23.1 1q23.1 607428 KIRREL1, NEPH1, NPHS23 Kirre-like nephrin family adhesion molecule 1 KIRREL1 55243 ENSG00000183853 Nephrotic syndrome, type 23, 619201 (3), Autosomal recessive Kirrel (MGI:1891396) -chr1 158178029 158186426 1q21-q23 1q23.1 188410 CD1D Thymocyte antigen CD1D CD1D 912 ENSG00000158473 Cd1d2,Cd1d1 (MGI:107674,MGI:107675) -chr1 158248335 158258268 1q21-q23 1q23.1 188370 CD1A Thymocyte antigen CD1A CD1A 909 ENSG00000158477 genes A, B, C, D in cluster -chr1 158285405 158331530 1q21-q23 1q23.1 188360 CD1B Thymocyte antigen CD1B CD1B 910 ENSG00000158485 -chr1 158289886 158294773 1q21-q23 1q23.1 188340 CD1C Thymocyte antigen CD1C CD1C 911 ENSG00000158481 -chr1 158353122 158357553 1q21-q23 1q23.1 188411 CD1E Thymocyte antigen CD1E CD1E 913 ENSG00000158488 -chr1 158610497 158686714 1q21 1q23.1 182860 SPTA1, EL2, SPH3, HS3, HPP Spectrin, alpha, erythrocytic-1 SPTA1 6708 ENSG00000163554 17cM proximal to FY Spherocytosis, type 3, 270970 (3), Autosomal recessive; Elliptocytosis-2, 130600 (3), Autosomal dominant; Pyropoikilocytosis, 266140 (3), Autosomal recessive Spta1 (MGI:98385) -chr1 158831350 158849501 1q22 1q23.1 159553 MNDA Myeloid cell nuclear differentiation antigen MNDA 4332 ENSG00000163563 Ifi205,Ifi211,Mndal (MGI:3041120,MGI:3780953,MGI:101847) -chr1 158931546 158990908 1q21-q23 1q23.1 612677 PYHIN1, IFIX Pyrin and Hin domain family, member 1 PYHIN1 149628 ENSG00000163564 Ifi205,Mndal (MGI:3780953,MGI:101847) -chr1 158999975 159055150 1q22 1q23.1 147586 IFI16 Interferon, gamma-inducible protein 16 IFI16 3428 ENSG00000163565 Ifi207,Ifi206,Ifi204 (MGI:96429,MGI:3646410,MGI:2138302) -chr1 159059225 159132350 1q22 1q23.1-q23.2 604578 AIM2 Absent in melanoma 2 AIM2 9447 ENSG00000163568 Aim2 (MGI:2686159) -chr1 159171591 159203312 1q21.2-q22 1q23.2 609743 CADM3, IGSF4B, TSLL1, NECL1, SYNCAM3 Cell adhesion molecule 3 CADM3 57863 ENSG00000162706 Cadm3 (MGI:2137858) -chr1 159204874 159206499 1q23.2 1q23.2 613665 ACKR1, DARC, FY, GPD, WBCQ1 Atypical chemokine receptor 1 (Duffy antigen receptor for chemokines) ACKR1 2532 ENSG00000213088 by A, 1q22-q23 [Blood group, Duffy system], 110700 (3), Autosomal dominant, Autosomal recessive; [White blood cell count QTL], 611862 (3), Autosomal recessive; {Malaria, vivax, protection against}, 611162 (3) Ackr1 (MGI:1097689) -chr1 159283574 159308201 1q23 1q23.2 147140 FCER1A Fc IgE receptor, alpha polypeptide FCER1A 2205 ENSG00000179639 Fcer1a (MGI:95494) -chr1 159587825 159588864 1q21-q23 1q23.2 104770 APCS, SAP Amyloid P component, serum APCS 325 ENSG00000132703 probably close to CRP {?Amyloidosis, secondary, susceptibility to} (1) Apcs (MGI:98229) -chr1 159712288 159714588 1q21-q23 1q23.2 123260 CRP C-reactive protein CRP 1401 ENSG00000132693 Crp (MGI:88512) -chr1 159780961 159782542 1q23 1q23.2 618361 DUSP23, DUSP25, LDP3, VHZ Dual-specificity phosphatase 23 DUSP23 54935 ENSG00000158716 Dusp23 (MGI:1915690) -chr1 159800505 159816256 1q23.2 1q23.2 613562 FCRL6 Fc receptor-like protein 6 FCRL6 343413 ENSG00000181036 Fcrl6 (MGI:3618339) -chr1 159826688 159837496 1q21 1q23.2 606620 SLAMF8, BLAME SLAM family, member 8 SLAMF8 56833 ENSG00000158714 Slamf8 (MGI:1921998) -chr1 159872363 159900164 1q22-q24 1q23.2 605152 CCDC19, NESG1 Coiled-coil domain-containing 19 CFAP45 25790 ENSG00000213085 Cfap45 (MGI:1919120) -chr1 159918110 159925506 1q21-q25 1q23.2 604634 TAGLN2 Transgelin 2 TAGLN2 8407 ENSG00000158710 Tagln2 (MGI:1312985) -chr1 159927040 159945660 1q22-q23 1q23.2 609738 IGSF9, KIAA1355 Immunoglobulin superfamily, member 9 IGSF9 57549 ENSG00000085552 Igsf9 (MGI:2135283) -chr1 160024952 160031989 1q23.2 1q23.2 610273 PIGM Phosphatidylinositol glycan, class M PIGM 93183 ENSG00000143315 Glycosylphosphatidylinositol deficiency, 610293 (3), Autosomal recessive Pigm (MGI:1914806) -chr1 160037466 160070159 1q23.2 1q23.2 602208 KCNJ10, SESAME Potassium inwardly-rectifying channel, subfamily J, member 10 KCNJ10 3766 ENSG00000177807 Enlarged vestibular aqueduct, digenic, 600791 (3), Autosomal recessive; SESAME syndrome, 612780 (3), Autosomal recessive Kcnj10 (MGI:1194504) -chr1 160081537 160090562 1q23.2 1q23.2 600932 KCNJ9, GIRK3 Potassium inwardly-rectifying channel, subfamily J, member 9 KCNJ9 3765 ENSG00000162728 Kcnj9 (MGI:108007) -chr1 160091338 160099441 1q23.1 1q23.2 606644 IGSF8, PGRL, CD81P3 Immunoglobulin superfamily, member 8 IGSF8 93185 ENSG00000162729 Igsf8 (MGI:2154090) -chr1 160115758 160143590 1q21-q23 1q23.2 182340 ATP1A2, FHM2, MHP2 ATPase, Na+K+ transporting, alpha-2 polypeptide ATP1A2 477 ENSG00000018625 Alternating hemiplegia of childhood 1, 104290 (3), Autosomal dominant; Migraine, familial basilar, 602481 (3), Autosomal dominant; Migraine, familial hemiplegic, 2, 602481 (3), Autosomal dominant Atp1a2 (MGI:88106) -chr1 160151602 160186979 1q21-q32 1q23.2 607321 ATP1A4, ATP1AL2 ATPase, Na+/K+ transporting, alpha-4 polypeptide ATP1A4 480 ENSG00000132681 Atp1a4 (MGI:1351335) -chr1 160190574 160201885 1q21 1q23.2 114250 CASQ1, VMCQA Calsequestrin, fast-twitch, skeletal muscle-1 CASQ1 844 ENSG00000143318 Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3), Autosomal dominant Casq1 (MGI:1309468) -chr1 160205383 160215375 1q21.1 1q23.2 603434 PEA15, HMAT1, PED Phosphoprotein enriched in astrocytes, 15kD PEA15 8682 ENSG00000162734 Pea15a (MGI:104799) -chr1 160215719 160262548 1q23.2 1q23.2 615820 DCAF8, WDR42A, GAN2 DDB1- and CUL4-associated factor 8 DCAF8 50717 ENSG00000132716 mutation identified in 1 GAN2 family ?Giant axonal neuropathy 2, autosomal dominant, 610100 (3), Autosomal dominant Dcaf8 (MGI:91860) -chr1 160276806 160285150 1q22 1q23.2 600279 PEX19, PXF, HK33, D1S2223E, PBD12A Peroxisome biogenesis factor 19 (peroxisomal farnesylated protein) PEX19 5824 ENSG00000162735 Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3), Autosomal recessive Pex19 (MGI:1334458) -chr1 160288593 160343249 1q23-q25 1q23.2 601924 COPA, AILJK Coatomer protein complex, subunit alpha COPA 1314 ENSG00000122218 {Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3), Autosomal dominant Copa (MGI:1334462) -chr1 160343327 160358948 1q22-q23 1q23.2 605254 NCSTN Nicastrin NCSTN 23385 ENSG00000162736 Acne inversa, familial, 1, 142690 (3), Autosomal dominant Ncstn (MGI:1891700) -chr1 160367070 160372845 1q22 1q23.2 162360 NHLH1, HEN1 Nescient helix loop helix 1 NHLH1 4807 ENSG00000171786 closely linked to Sap in mouse Nhlh1 (MGI:98481) -chr1 160400563 160428673 1q21-q23 1q23.2 600533 VANGL2, LTAP VANGL planar cell polarity protein 2 VANGL2 57216 ENSG00000162738 Neural tube defects, 182940 (3), Autosomal dominant Vangl2 (MGI:2135272) -chr1 160485029 160523262 1q23.1 1q23.2-q23.3 606446 SLAMF6, NTBA SLAM family, member 6 SLAMF6 114836 ENSG00000162739 Slamf6 (MGI:1353620) -chr1 160500000 165500000 1q23 605913 BDET Bleeding disorder, east Texas type 85504 Bleeding disorder, east Texas type, 605913 (2) -chr1 160500000 165500000 1q23 157560 D1S61, D1S111, MS336 Minisatellite 33.6 7824 -chr1 160500000 165500000 1q23.3 610141 QTV QT interval, variation in 100379215 associated with rs12143842 [QT interval, variation in], 610141 (2) -chr1 160541097 160579514 1q23.3 1q23.3 604513 CD84, SLAMF5 CD84 antigen CD84 8832 ENSG00000066294 Cd84 (MGI:1336885) -chr1 160608105 160647280 1q22-q23 1q23.3 603492 SLAMF1, SLAM, CDW150, CD150 SLAM family, member 1 SLAMF1 6504 ENSG00000117090 Slamf1 (MGI:1351314) -chr1 160678745 160711835 1q21.3-q22 1q23.3 109530 CD48, BCM1, BLAST1 CD48 antigen (B-cell membrane protein) CD48 962 ENSG00000117091 Cd48 (MGI:88339) -chr1 160739056 160754820 1q23-q24 1q23.3 606625 SLAMF7, CRACC, CS1 SLAM family, member 7 SLAMF7 57823 ENSG00000026751 Slamf7 (MGI:1922595) -chr1 160796111 160828255 1q21.3-q22 1q23.3 600684 LY9 T-lymphocyte surface antigen Ly-9 LY9 4063 ENSG00000122224 within 410kb of CD48 Ly9 (MGI:96885) -chr1 160830159 160862891 1q22 1q23.3 605554 CD244, NAIL, NKR2B4, SLAMF4 CD244 antigen CD244 51744 ENSG00000122223 {Rheumatoid arthritis, susceptibility to}, 180300 (3) Cd244a (MGI:109294) -chr1 160876539 160885179 1q21.3-q22 1q23.3 609873 ITLN1, INTL, LFR, HL1 Intelectin 1 ITLN1 55600 ENSG00000179914 Itlnb,Itln1 (MGI:3057189,MGI:1333831) -chr1 160945019 160957377 1q21.3-q22 1q23.3 609874 ITLN2, HL2 Intelectin 2 ITLN2 142683 ENSG00000158764 Itln1 (MGI:1333831) -chr1 160995210 161021151 1q21.2-q21.3 1q23.3 605721 F11R, JAM1 F11 receptor (junctional adhesion molecule 1) F11R 50848 ENSG00000158769 F11r (MGI:1321398) -chr1 161037630 161038963 1q23.3 1q23.3 616041 TSTD1, KAT Thiosulfate sulfurtransferase (rhodanese)-like domain-containing protein 1 TSTD1 100131187 ENSG00000215845 Tstd1 (MGI:3648482) -chr1 161039250 161045976 1q22-q23 1q23.3 191523 USF1, HYPLIP1 Upstream transcription factor 1 USF1 7391 ENSG00000158773 {Hyperlipidemia, familial combined, susceptibility to}, 602491 (3) Usf1 (MGI:99542) -chr1 161046941 161069970 1q23.3 1q23.3 614264 ARHGAP30 RHO GTPase-activating protein 30 ARHGAP30 257106 ENSG00000186517 Arhgap30 (MGI:2684948) -chr1 161070997 161089565 1q23.3 1q23.3 609607 NECTIN 4, PVRL4, PRR4, EDSS1 Nectin 4 NECTIN4 81607 ENSG00000143217 Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3), Autosomal recessive Nectin4 (MGI:1918990) -chr1 161098360 161100345 1q23.3 1q23.3 617375 KLHDC9, KARCA1 Kelch domain-containing protein 9 KLHDC9 126823 ENSG00000162755 Klhdc9 (MGI:1916124) -chr1 161100555 161118042 1q23.3 1q23.3 613466 PFDN2 Prefoldin 2 PFDN2 5202 ENSG00000143256 Pfdn2 (MGI:1276111) -chr1 161118091 161125445 1q21-q22 1q23.3 604618 NIT1 Nitrilase 1 NIT1 4817 ENSG00000158793 Nit1 (MGI:1350916) -chr1 161120973 161132782 1q23.3 1q23.3 606841 DEDD, DEFT Death effector domain-containing protein DEDD 9191 ENSG00000158796 Dedd (MGI:1333874) -chr1 161132702 161158855 1q23.3 1q23.3 610554 UFC1, NEDSG Ubiquitin-fold modifier-conjugating enzyme 1 UFC1 51506 ENSG00000143222 Neurodevelopmental disorder with spasticity and poor growth, 618076 (3), Autosomal recessive Ufc1 (MGI:1913405) -chr1 161159486 161165751 1q22 1q23.3 604729 USP21, USP23 Ubiquitin-specific protease 21 USP21 27005 ENSG00000143258 Usp21 (MGI:1353665) -chr1 161165823 161178276 1q22 1q23.3 600923 PPOX Protoporphyrinogen oxidase PPOX 5498 ENSG00000143224 Porphyria variegata, 176200 (3), Autosomal dominant Ppox (MGI:104968) -chr1 161171309 161185006 1q23 1q23.3 604014 B4GALT3 Beta-1,4-galactosyltransferase 3 B4GALT3 8703 ENSG00000158850 B4galt3 (MGI:1928767) -chr1 161184301 161202338 1q21-q23 1q23.3 603876 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 (aggrecanase 1) ADAMTS4 9507 ENSG00000158859 Adamts4 (MGI:1339949) -chr1 161197416 161214394 1q23 1q23.3 602985 NDUFS2, MC1DN6 NADH-ubiquinone oxidoreductase core subunit S2 NDUFS2 4720 ENSG00000158864 Mitochondrial complex I deficiency, nuclear type 6, 618228 (3), Autosomal recessive Ndufs2 (MGI:2385112) -chr1 161215294 161219244 1q23 1q23.3 147139 FCER1G Fc fragment of IgE, high affinity I, receptor for, gamma polypeptide FCER1G 2207 ENSG00000158869 probably on 1q close to CD32 Fcer1g (MGI:95496) -chr1 161222291 161223627 1q21-q23 1q23.3 107670 APOA2 Apolipoprotein A-II APOA2 336 ENSG00000158874 Apolipoprotein A-II deficiency (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal dominant, Autosomal recessive Apoa2 (MGI:88050) -chr1 161229665 161238622 1q23.1 1q23.3 603881 NR1I3, CAR, MB67 Nuclear receptor subfamily 1, group I, member 3 NR1I3 9970 ENSG00000143257 Nr1i3 (MGI:1346307) -chr1 161303593 161309968 1q22 1q23.3 159440 MPZ, CMT1B, CMTDID, DSS, CHN2 Myelin protein zero MPZ 4359 ENSG00000158887 Charcot-Marie-Tooth disease, type 2I, 607677 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal dominant, Autosomal recessive; Charcot-Marie-Tooth disease, type 1B, 118200 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3), Autosomal dominant; Hypomyelinating neuropathy, congenital, 2, 618184 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2J, 607736 (3), Autosomal dominant Mpz (MGI:103177) -chr1 161314380 161375339 1q21 1q23.3 602413 SDHC, PGL3 Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD SDHC 6391 ENSG00000143252 Paragangliomas 3, 605373 (3), Autosomal dominant; Paraganglioma and gastric stromal sarcoma, 606864 (3); Gastrointestinal stromal tumor, 606764 (3), Autosomal dominant, Isolated cases Sdhc (MGI:1913302) -chr1 161364732 161367875 1q23.3 1q23.3 616119 CFAP126, FLTP Cilia- and flagella-associated protein 126 CFAP126 257177 ENSG00000188931 Cfap126 (MGI:1922722) -chr1 161505429 161524047 1q21-q23 1q23.3 146790 FCGR2A, IGFR2, CD32 Fc fragment of IgG receptor IIa FCGR2A 2212 ENSG00000143226 FCG2 and FCG3 within 250kb {Malaria, severe, susceptibility to}, 611162 (3); {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3), Autosomal recessive; {Lupus nephritis, susceptibility to}, 152700 (3), Autosomal dominant Fcgr3,Fcgr2b (MGI:95499,MGI:95500) -chr1 161524539 161526893 1q 1q23.3 140555 HSPA6 Heat-shock 70kD protein-6 (HSP70B') HSPA6 3310 ENSG00000173110 -chr1 161541758 161550736 1q23 1q23.3 146740 FCGR3A, CD16, IGFR3, IMD20 Fc fragment of IgG receptor IIIa FCGR3A 2214 ENSG00000203747 FCGR2A and FCGR3A within 250kb antigen Immunodeficiency 20, 615707 (3), Autosomal recessive Fcgr4 (MGI:2179523) -chr1 161581338 161601219 1q23 1q23.3 612169 FCGR2C, CD32C Fc fragment of IgG receptor IIc FCGR2C 9103 ?pseudogene -chr1 161606058 161608550 1q23.3 1q23.3 140556 HSPA7 Heat-shock protein family A (Hsp70) member 7, pseudogene HSPA7 3311 -chr1 161623195 161631962 1q23 1q23.3 610665 FCGR3B Fc fragment of IgG receptor IIIb FCGR3B 2215 ENSG00000162747 Fcgr4 (MGI:2179523) -chr1 161647242 161678653 1q22 1q23.3 604590 FCGR2B, CD32 Fc fragment of IgG receptor Ia FCGR2B 2213 ENSG00000072694 {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant; {Malaria, resistance to}, 611162 (3) Fcgr2b (MGI:95499) -chr1 161707021 161714351 1q23 1q23.3 606891 FREB Fc receptor homolog expressed in B cells FCRLA 84824 ENSG00000132185 Fcrla (MGI:2138647) -chr1 161721543 161728142 1q23.3 1q23.3 609251 FCRLB, FCRL2, FREB2, FCRY Fc receptor-like protein B FCRLB 127943 ENSG00000162746 Fcrlb (MGI:3576487) -chr1 161749785 161757237 1q21-q22 1q23.3 604835 DUSP1, YVH1 Dual-specificity phosphatase 12 DUSP12 11266 ENSG00000081721 Dusp12 (MGI:1890614) -chr1 161766319 161964069 1q22-q23 1q23.3 605537 ATF6, ACHM7 Activating transcription factor-6 ATF6 22926 ENSG00000118217 Achromatopsia 7, 616517 (3), Autosomal recessive Atf6 (MGI:1926157) -chr1 162069690 162370474 1q23.3 1q23.3 605551 NOS1AP, CAPON, KIAA0464, NPHS22 Nitric oxide synthase 1 (neuronal) adaptor protein NOS1AP 9722 ENSG00000198929 Nephrotic syndrome, type 22, 619155 (3), Autosomal recessive Nos1ap (MGI:1917979) -chr1 162373202 162376961 1q23.3 1q23.3 617257 SPATA46 Spermatogenesis-associated protein 46 SPATA46 284680 ENSG00000171722 Spata46 (MGI:1924175) -chr1 162395267 162412135 1q22 1q23.3 608510 SH2D1B, EAT2 SH2 domain-containing 1B SH2D1B 117157 ENSG00000198574 Sh2d1b1,Sh2d1b2 (MGI:3622649,MGI:1349420) -chr1 162497173 162529630 1q23.1 1q23.3 608849 KIS Kinase-interacting stathmin UHMK1 127933 ENSG00000152332 Uhmk1 (MGI:1341908) -chr1 162561530 162599836 1q23.3 1q23.3 602862 UAP1, SPAG2 ADP-N-acetylglucosamine pyrophosphorylase 1 UAP1 6675 ENSG00000117143 Uap1 (MGI:1334459) -chr1 162630862 162787404 1q12-qter 1q23.3 191311 DDR2, NTRKR3, TKT, WRCN Discoidin domain receptor family, member 2 DDR2 4921 ENSG00000162733 Warburg-Cinotti syndrome, 618175 (3), Autosomal dominant; Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3), Autosomal recessive Ddr2 (MGI:1345277) -chr1 162790701 162812822 1q23.3 1q23.3 606756 HSD17B7 17-beta-hydroxysteroid dehydrogenase VII HSD17B7 51478 ENSG00000132196 Hsd17b7 (MGI:1330808) -chr1 163068870 163076801 1q23.3 1q23.3 602516 RGS4 Regulator of G protein signaling 4 RGS4 5999 ENSG00000117152 Rgs4 (MGI:108409) -chr1 163142298 163321734 1q23 1q23.3 603276 RGS5 Regulator of G protein signaling-5 RGS5 8490 ENSG00000143248 [Blood pressure regulation QTL], 145500 (2), Multifactorial Rgs5 (MGI:1098434) -chr1 163321947 163355763 1q23 1q23.3 611772 NUF2, NUF2R, CDCA1 NUF2 component of NDC80 kinetochore complex NUF2 83540 ENSG00000143228 Nuf2 (MGI:1914227) -chr1 164559183 164886046 1q23 1q23.3 176310 PBX1, CAKUHED Pre-B cell leukemia transcription factor-1 PBX1 5087 ENSG00000185630 pseudogene PBXP1 on chr.3 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3), Autosomal dominant Pbx1 (MGI:97495) -chr1 165201866 165356714 1q22-q23 1q23.3 600298 LMX1A, LMX1, DFNA7 LIM homeo box transcription factor-1, alpha LMX1A 4009 ENSG00000162761 Deafness, autosomal dominant 7, 601412 (3), Autosomal dominant Lmx1a (MGI:1888519) -chr1 165400921 165445125 1q22-q23 1q23.3 180247 RXRG Retinoid X receptor, gamma RXRG 6258 ENSG00000143171 Rxrg (MGI:98216) -chr1 165543999 165563956 1q24.1 1q24.1 615218 LRRC52 Leucine-rich repeat-containing protein 52 LRRC52 440699 ENSG00000162763 Lrrc52 (MGI:1924118) -chr1 165631233 165656135 1q23 1q24.1 604564 MGST3 Glutatione S-transferase, microsomal, 3 MGST3 4259 ENSG00000143198 Mgst3 (MGI:1913697) -chr1 165662215 165698561 1q22-q23 1q24.1 602733 ALDH9A1, ALDH9, E3 Aldehyde dehydrogenase 9 family, member A1 ALDH9A1 223 ENSG00000143149 Aldh9a1 (MGI:1861622) -chr1 165724290 165768921 1q24.1 1q24.1 614123 TMCO1, CFSMR Transmembrane and coiled-coil domains protein 1 TMCO1 54499 ENSG00000143183 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3), Autosomal recessive Tmco1 (MGI:1921173) -chr1 165827613 165911617 1q22-q23.2 1q24.1 609329 UCK2, TSA903 Uridine/cytidine kinase 2 UCK2 7371 ENSG00000143179 Uck2 (MGI:1931744) -chr1 166856509 166876263 1q24-q25 1q24.1 612763 TADA1L, STAF42 Transcriptional adaptor 1-like TADA1 117143 ENSG00000152382 Tada1 (MGI:1196415) -chr1 166908186 166975539 1q24.1 1q24.1 618081 ILDR2 Immunoglobulin-like domain-containing receptor 2 ILDR2 387597 ENSG00000143195 Ildr2 (MGI:1196370) -chr1 166921120 167022213 1q24.1 1q24.1 611368 MAEL Maelstrom, Drosophila, homolog of MAEL 84944 ENSG00000143194 Mael (MGI:2138453) -chr1 167052835 167090391 1q24.1 1q24.1 602171 GPA33 Glycoprotein A33 GPA33 10223 ENSG00000143167 Gpa33 (MGI:1891703) -chr1 167220877 167427344 1q22-q23 1q24.2 164175 OTF1, OCT1 Octamer-binding transcription factor-1 POU2F1 5451 ENSG00000143190 Pou2f1 (MGI:101898) -chr1 167430639 167518541 1q22-q23 1q24.2 186780 CD247, CD3Z, TCRZ, IMD25 CD247 antigen CD247 919 ENSG00000198821 mutation identified in one IMD25 patient ?Immunodeficiency 25, 610163 (3), Autosomal recessive Cd247 (MGI:88334) -chr1 167541012 167553761 1q24.2 1q24.2 618055 CREG1 Cellular repressor of E1A-stimulated genes 1 CREG1 8804 ENSG00000143162 Creg1 (MGI:1344382) -chr1 167630231 167708695 1q24 1q24.2 610579 RCSD1, CAPZIP RCSD domain-containing protein 1 RCSD1 92241 ENSG00000198771 Rcsd1 (MGI:2676394) -chr1 167721981 167791918 1q24 1q24.2 604376 MPZL1, PZR Myelin protein zero-like 1 MPZL1 9019 ENSG00000197965 Mpzl1 (MGI:1915731) -chr1 167809079 167916388 1q24 1q24.2 605205 ADCY10, SAC, HCA2 Adenylyl cyclase 10, soluble ADCY10 55811 ENSG00000143199 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3), Autosomal dominant Adcy10 (MGI:2660854) -chr1 167916674 167937071 1q24.2 1q24.2 614737 MPC2, BRP44 Mitochondrial pyruvate carrier 2 MPC2 25874 ENSG00000143158 Mpc2 (MGI:1917706) -chr1 167936238 168075835 1q24.2 1q24.2 610494 DCAF6, IQWD1, NRIP DDB1 and CUL4 associated factor 6 DCAF6 55827 ENSG00000143164 Dcaf6 (MGI:1921356) -chr1 168079541 168137666 1q24.2 1q24.2 612250 GPR161 G protein-coupled receptor 161 GPR161 23432 ENSG00000143147 Gpr161 (MGI:2685054) -chr1 168178961 168202108 1q23.2 1q24.2 611807 TIPRL, TIP41, TIP TIP41-like protein TIPRL 261726 ENSG00000143155 Tiprl (MGI:1915087) -chr1 168280876 168314425 1q23-q24 1q24.2 604614 TBX19 T-box 19 TBX19 9095 ENSG00000143178 Adrenocorticotropic hormone deficiency, 201400 (3), Autosomal recessive Tbx19 (MGI:1891158) -chr1 168540767 168543996 1q23 1q24.2 604828 XCL2, SCYC2, SCM1B Chemokine, C motif, ligand 2 XCL2 6846 ENSG00000143185 Xcl1 (MGI:104593) -chr1 168574127 168582068 1q23 1q24.2 600250 XCL1, SCYC1, SCM1, LTN, LPTN Chemokine, C motif, ligand 1 (lymphotactin) XCL1 6375 ENSG00000143184 Xcl1 (MGI:104593) -chr1 168695467 168729205 1q12-q23 1q24.2 125597 DPT Dermatopontin DPT 1805 ENSG00000143196 Dpt (MGI:1928392) -chr1 169106689 169132718 1q22-q25 1q24.2 182330 ATP1B1 ATPase, Na+K+ transporting, beta-1 polypeptide ATP1B1 481 ENSG00000143153 [Blood pressure regulation QTL], 145500 (2), Multifactorial Atp1b1 (MGI:88108) -chr1 169132530 169367796 1q24 1q24.2 613465 NME7, MN23H7 NME/NM23 family, member 7 NME7 29922 ENSG00000143156 Nme7 (MGI:2449121) -chr1 169463908 169485969 1q23.3 1q24.2 603941 SLC19A2, THTR1, TRMA, THMD1 Solute carrier family 19 (thiamine transporter), member 2 SLC19A2 10560 ENSG00000117479 Thiamine-responsive megaloblastic anemia syndrome, 249270 (3), Autosomal recessive Slc19a2 (MGI:1928761) -chr1 169511950 169586629 1q23 1q24.2 612309 F5, THPH2, RPRGL1 Coagulation factor V (proaccelerin, labile factor) F5 2153 ENSG00000198734 Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3), Autosomal dominant; {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3), Autosomal dominant; {Budd-Chiari syndrome}, 600880 (3), Autosomal recessive; Thrombophilia due to activated protein C resistance, 188055 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial; Factor V deficiency, 227400 (3), Autosomal recessive F5 (MGI:88382) -chr1 169588848 169630124 1q23-q25 1q24.2 173610 SELP, GRMP Selectin P (granulocyte membrane protein, 140kD; antigen CD62) SELP 6403 ENSG00000174175 in same 300kb segment as LYAM1, ELAM1 Selp (MGI:98280) -chr1 169690666 169711619 1q23-q25 1q24.2 153240 SELL, LYAM1, LAM1, LNHR Selectin L (lymphocyte adhesion molecule 1) SELL 6402 ENSG00000188404 Sell (MGI:98279) -chr1 169722639 169734078 1q23-q25 1q24.2 131210 SELE, ELAM1 Selectin E (endothelial leukocyte adhesion molecule-1) SELE 6401 ENSG00000007908 Sele (MGI:98278) -chr1 169792523 169794906 1q24.2 1q24.2 615255 METTL18, C1orf156 Methyltransferase-like 18 METTL18 92342 ENSG00000171806 Mettl18 (MGI:1917212) -chr1 169849630 169894266 1q24.2 1q24.2 608192 SCYL3, PACE1 SCY1-like 3, S. cerevisiae, homolog of SCYL3 57147 ENSG00000000457 Scyl3 (MGI:1921385) -chr1 169921325 170085202 1q24.2 1q24.2 601836 KIFAP3, SMAP Kinesin-associated protein 3 KIFAP3 22920 ENSG00000075945 Kifap3 (MGI:107566) -chr1 170532133 170553833 1q24.2 1q24.2 607983 GORAB, SCYL1BP1, NTKLBP1, GO Golgin, RAB6-interacting GORAB 92344 ENSG00000120370 Geroderma osteodysplasticum, 231070 (3), Autosomal recessive Gorab (MGI:2138271) -chr1 170662727 170739420 1q24 1q24.2 167420 PRRX1, PMX1, PHOX1, AGOTC Paired-related homeobox gene 1 PRRX1 5396 ENSG00000116132 Agnathia-otocephaly complex, 202650 (3), Autosomal dominant, Autosomal recessive Prrx1 (MGI:97712) -chr1 170900000 173000000 1q24 605429 DFNM1 Deafness, nonsyndromic, modifier 1 {Deafness, nonsyndromic, modifier 1}, 605429 (2), Autosomal dominant -chr1 171090872 171117818 1q23-q25 1q24.3 136132 FMO3, TMAU Flavin-containing monooxygenase 3 FMO3 2328 ENSG00000007933 Trimethylaminuria, 602079 (3), Autosomal recessive Fmo3 (MGI:1100496) -chr1 171185207 171212685 1q23-q25 1q24.3 603955 FMO2 Flavin-containing monooxygenase 2, pulmonary FMO2 2327 ENSG00000094963 probably cluster of FMO genes at 1q23-q25 Fmo2 (MGI:1916776) -chr1 171248472 171285977 1q23-q25 1q24.3 136130 FMO1 Flavin-containing monooxygenase 1, fetal liver FMO1 2326 ENSG00000010932 Fmo1 (MGI:1310002) -chr1 171314130 171342083 1q23-q25 1q24.3 136131 FMO4 Flavin-containing monooxygenase 2, adult liver FMO4 2329 ENSG00000076258 Fmo4 (MGI:2429497) -chr1 171485495 171593510 1q24.3 1q24.3 617373 PRRC2C, KIAA1096 Proline-rich coiled-coil protein 3C PRRC2C 23215 ENSG00000117523 Prrc2c (MGI:1913754) -chr1 171635416 171652687 1q24.3-q25.2 1q24.3 601652 MYOC, TIGR, GLC1A, JOAG, GPOA Myocilin (trabecular meshwork-induced glucocorticoid response protein) MYOC 4653 ENSG00000034971 Glaucoma 1A, primary open angle, 137750 (3), Autosomal dominant Myoc (MGI:1202864) -chr1 171700159 171742843 1q24-q25 1q24.3 606909 VAMP24 Vesicle-associated membrane protein 4 VAMP4 8674 ENSG00000117533 Vamp4 (MGI:1858730) -chr1 171781659 171797715 1q24.3 1q24.3 617987 EEF1AKNMT, METTL13, FEAT, KIAA0859, DFNB26M EEF1A lysine and N-terminal methyltransferase METTL13 51603 ENSG00000010165 mutation identified in 1 family ?{Deafness, autosomal recessive 26, modifier of}, 605429 (3), Autosomal dominant Eef1aknmt (MGI:1918699) -chr1 171841494 172418465 1q24.3 1q24.3 611445 DNM3, KIAA0820 Dynamin 3 DNM3 26052 ENSG00000197959 Dnm3 (MGI:1341299) -chr1 172138797 172138906 1q24.3 1q24.3 610721 MIR214, MIRN214 Micro RNA 214 MIR214 406996 ENSG00000283844 Mir214 (MGI:2676890) -chr1 172138807 172138887 1q24.3 1q24.3 614722 MIR3120 Micro RNA 3120 MIR3120 100422882 ENSG00000283152 in intron 13 of DNM3 in sense orientation -chr1 172144534 172144643 1q24.3 1q24.3 610720 MIR199A2, MIRN199A2 Micro RNA 199A2 MIR199A2 406977 ENSG00000208024 Mir199a-2 (MGI:3618742) -chr1 172441456 172444068 1q23-q25 1q24.3 601730 PIGC, GPI2, GPIBD16, MRT62 Phosphatidylinositol glycan, class C PIGC 5279 ENSG00000135845 Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3), Autosomal recessive Pigc (MGI:1914542) -chr1 172532348 172611832 1q24 1q24.3 619434 SUCO, C1orf9 SUN domain-containing ossification factor SUCO 51430 ENSG00000094975 Suco (MGI:2138346) -chr1 172659102 172666875 1q23 1q24.3 134638 FASLG, TNFSF6, APT1LG1, FASL, ALPS1B Fas ligand (TNF superfamily, member 6) FASLG 356 ENSG00000117560 Autoimmune lymphoproliferative syndrome, type IB, 601859 (3), Autosomal dominant; {Lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant Fasl (MGI:99255) -chr1 173039201 173050940 1q23 1q25.1 603898 TNFSF18, AITRL, GITRL Tumor necrosis factor ligand superfamily, member 18 TNFSF18 8995 ENSG00000120337 Tnfsf18 (MGI:2673064) -chr1 173183728 173462207 1q25 1q25.1 603594 TNFSF4, GP34, OX4OL Tumor necrosis factor ligand superfamily, member 4 TNFSF4 7292 ENSG00000117586 {Myocardial infarction, susceptibility to}, 608446 (3) Tnfsf4 (MGI:104511) -chr1 173477334 173488814 1q25.1 1q25.1 602316 PRDX6 Peroxiredoxin 6 PRDX6 9588 ENSG00000117592 Prdx6b,Prdx6 (MGI:894320,MGI:1336888) -chr1 173608335 173705429 1q25.1 1q25.1 618712 ANKRD45 Ankyrin repeat domain-containing protein 45 ANKRD45 339416 ENSG00000183831 Ankrd45 (MGI:1921094) -chr1 173714911 173786825 1q25.1 1q25.1 617679 KLHL20, KLEIP, KLHLX Kelch-like 20 KLHL20 27252 ENSG00000076321 Klhl20 (MGI:2444855) -chr1 173799549 173824882 1q25.1 1q25.1 611503 CENPL Centromeric protein L CENPL 91687 ENSG00000120334 Cenpl (MGI:1917704) -chr1 173824672 173858545 1q25.1 1q25.1 610956 DARS2, ASPRS. LBSL Aspartyl-tRNA synthetase 2 DARS2 55157 ENSG00000117593 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3), Autosomal recessive Dars2 (MGI:2442510) -chr1 173863898 173868881 1q23.3 1q25.1 608280 GAS5 Growth arrest-specific 5 GAS5 60674 ENSG00000234741 Gas5 (MGI:95659) -chr1 173903799 173917326 1q23-q25 1q25.1 107300 SERPINC1, AT3, AT3D, THPH7 Antithrombin III SERPINC1 462 ENSG00000117601 ~17cM distal to FY Thrombophilia due to antithrombin III deficiency, 613118 (3), Autosomal dominant, Autosomal recessive Serpinc1 (MGI:88095) -chr1 173931083 174022356 1q25.1 1q25.1 609424 RC3H1, KIAA2025, IMDSHY Roquin RC3H1 149041 ENSG00000135870 mutation identified in 1 IMDSHY patient ?Immune dysregulation and systemic hyperinflammation syndrome, 618998 (3) Rc3h1 (MGI:2685397) -chr1 174159413 174995307 1q25.1 1q25.1 609238 RABGAP1L, TBC1D18, KIAA0471 RAB GTPase-activating protein 1-like RABGAP1L 9910 ENSG00000152061 Rabgap1l (MGI:1352507) -chr1 174447963 174449544 1q24 1q25.1 604106 GPR52 G protein-coupled receptor 52 GPR52 9293 ENSG00000203737 Gpr52 (MGI:3643278) -chr1 174999434 175012026 1q24-q25 1q25.1 606186 SIP SIAH1-interacting protein CACYBP 27101 ENSG00000116161 Cacybp (MGI:1270839) -chr1 175012957 175023424 1q23-q25 1q25.1 611978 MRPS14, COXPD38 Mitochondrial ribosomal protein S14 MRPS14 63931 ENSG00000120333 mutation identified in 1 COXPD38 patient ?Combined oxidative phosphorylation deficiency 38, 618378 (3), Autosomal recessive Mrps14 (MGI:1928141) -chr1 175067832 175148074 1q25.1 1q25.1 617472 TNN Tenascin N TNN 63923 ENSG00000120332 Tnn (MGI:2665790) -chr1 175156985 175193294 1q25.1 1q25.1 616696 KIAA0040 KIAA0040 gene KIAA0040 9674 ENSG00000235750 4930523C07Rik (MGI:1914897) -chr1 175315193 175743701 1q24 1q25.1 601995 TNR Tenascin R (restrictin, janusin) TNR 7143 ENSG00000116147 Tnr (MGI:99516) -chr1 175944830 176209086 1q24.1 1q25.1-q25.2 608067 RFWD2, COP1 Ring finger- and WD repeat domain-containing protein 2 COP1 64326 ENSG00000143207 pseudogenes on chr. 3, 9, 18 Cop1 (MGI:1347046) -chr1 176100000 185800000 1q25.2-q25.3 615492 LINC-COX2 Long intergenic noncoding RNA COX2 -chr1 176463158 176845600 1q25.2 1q25.2 619485 PAPPA2, PAPPE, SSDA Pappalysin 2 PAPPA2 60676 ENSG00000116183 Short stature, Dauber-Argente type, 619489 (3), Autosomal recessive -chr1 176855116 177164853 1q25 1q25.2 600904 ASTN1, ASTN Astrotactin 1 ASTN1 460 ENSG00000152092 Astn1 (MGI:1098567) -chr1 177170889 177282421 1q24 1q25.2 619359 BRINP2 Bone morphogenetic protein/retinoic acid-inducible neural-specific protein 2 BRINP2 57795 ENSG00000198797 Brinp2 (MGI:2443333) -chr1 177928787 177984283 1q25.2 1q25.2 612855 SEC16B, LZTR2, RGPR, SEC16S SEC16 homolog B, endoplasmic reticulum export factor SEC16B 89866 ENSG00000120341 Sec16b (MGI:2148802) -chr1 178093728 178478878 1q25.2 1q25.2 606136 RASAL2, NGAP Ras protein activator-like 2 RASAL2 9462 ENSG00000075391 Rasal2 (MGI:2443881) -chr1 178725232 178921841 1q25.2 1q25.2 617819 RALGPS2, FLJ10244 RAL guanine nucleotide exchange factor with PH domain and SH3 domain-binding motif 2 RALGPS2 55103 ENSG00000116191 Ralgps2 (MGI:1925505) -chr1 178849534 178871076 1q25.2 1q25.2 603874 ANGPTL1 Angiopoietin-like 1 ANGPTL1 9068 ENSG00000116194 Angptl1 (MGI:1919963) -chr1 179025803 179076566 1q25 1q25.2 611063 FAM20B Family with sequence similarity 20, member B FAM20B 9917 ENSG00000116199 Fam20b (MGI:2443990) -chr1 179082069 179095995 1q25-q31 1q25.2 607555 TOR3A, ADIR Torsin family 3, member A (ATP-dependent interferon-responsive protein) TOR3A 64222 ENSG00000186283 Tor3a (MGI:1353652) -chr1 179099329 179229692 1q24-q25 1q25.2 164690 ABL2, ABLL, ARG ABL protooncogene 2, nonreceptor tyrosine kinase ABL2 27 ENSG00000143322 fused with ETV6 in AML Abl2 (MGI:87860) -chr1 179293718 179358679 1q25 1q25.2 102642 SOAT1, STAT, ACAT Sterol O-acyltransferase 1 (acyl-Coenzyme A: cholesterol acyltransferase 1) SOAT1 6646 ENSG00000057252 Soat1 (MGI:104665) -chr1 179550538 179575986 1q25-q31 1q25.2 604766 PDCN, NPHS2, SRN1 Podocin NPHS2 7827 ENSG00000116218 modifies phenotype of NPHS1 mutations to FSGS Nephrotic syndrome, type 2, 600995 (3), Autosomal recessive Nphs2 (MGI:2157018) -chr1 179591612 179691271 1q25.2 1q25.2 617748 TDRD5, TUDOR3 Tudor domain-containing protein 5 TDRD5 163589 ENSG00000162782 Tdrd5 (MGI:2684949) -chr1 179727762 179816197 1q24.3 1q25.2 611727 C1orf76, NDSP Neuroblastoma-derived secretory protein FAM163A 148753 ENSG00000143340 Fam163a (MGI:3618859) -chr1 179839975 179877802 1q24 1q25.2 614513 TOR1AIP2, LULL1 Torsin A-interacting protein 2 TOR1AIP2 163590 ENSG00000169905 Tor1aip2 (MGI:3582695) -chr1 179882284 179920075 1q24 1q25.2 614512 TOR1AIP1, LAP1, LAP1B, LGMD2Y Torsin A-interacting protein 1 TOR1AIP1 26092 ENSG00000143337 mutation identified in 1 MRRSDC family ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3), Autosomal recessive Tor1aip1 (MGI:3582693) -chr1 179954772 180114874 1q25.2 1q25.2 617870 CEP350, CAP350, KIAA0480 Centrosomal protein 350 CEP350 9857 ENSG00000135837 Cep350 (MGI:1921331) -chr1 180154868 180204029 1q24 1q25.2 603120 QSOX1 Quiescin Q6 sulfhydryl oxidase 1 QSOX1 5768 ENSG00000116260 Qsox1 (MGI:1330818) -chr1 180228371 180278983 1q25 1q25.2 602146 LHX4, CPHD4 LIM homeo box gene 4 LHX4 89884 ENSG00000121454 fused to IGH in ALL Pituitary hormone deficiency, combined, 4, 262700 (3), Autosomal dominant Lhx4 (MGI:101776) -chr1 180269662 180502576 1q25.3-q25.3 1q25.2-q25.3 616352 ACBD6 Acyl-CoA-binding domain-containing protein 6 ACBD6 84320 ENSG00000230124 Acbd6 (MGI:1919732) -chr1 180300000 185800000 1q25 611154 AD14 Alzheimer disease 14 100188754 max lod at D1S218 {Alzheimer disease-14}, 611154 (2) -chr1 180300000 185800000 1q25 608526 PDON2 Periodontitis, aggressive, 2 406237 between D1S196 and D1S533 Periodontitis, aggressive, 2, 608526 (2) -chr1 180300000 185800000 1q25 611013 RGSL2 Regulator of G protein signaling-like 2 related to AD linked to 1q25 -chr1 180434795 180436801 1q25.3 1q25.3 610030 VDAC4 Voltage-dependent anion channel 4 VDAC1P4 7418 -chr1 180632021 180890278 1q25.1 1q25.3 605237 XPR1, SYG1, IBGC6 Xenotropic and polytropic retrovirus receptor XPR1 9213 ENSG00000143324 Basal ganglia calcification, idiopathic, 6, 616413 (3), Autosomal dominant Xpr1 (MGI:97932) -chr1 180972724 181022916 1q25.3 1q25.3 603944 STX6 Syntaxin 6 STX6 10228 ENSG00000135823 Stx6 (MGI:1926235) -chr1 181033386 181061937 1q25.3 1q25.3 600764 MR1, HLALS Major histocompatibility complex, class I-related MR1 3140 ENSG00000153029 Mr1 (MGI:1195463) -chr1 181088699 181092899 1q25.3 1q25.3 607177 IER5 Immediate-early response gene 5 IER5 51278 ENSG00000162783 Ier5 (MGI:1337072) -chr1 181317711 181808083 1q25-q31 1q25.3 601013 CACNA1E, CACNL1A6, DEE69 Calcium channel, voltage-dependent, alpha 1E subunit CACNA1E 777 ENSG00000198216 Developmental and epileptic encephalopathy 69, 618285 (3), Autosomal dominant Cacna1e (MGI:106217) -chr1 182378097 182391789 1q31 1q25.3 138290 GLUL, GLNS Glutamate-ammonia ligase (glutamine synthase) GLUL 2752 ENSG00000135821 pseudogene on chr.9 Glutamine deficiency, congenital, 610015 (3), Autosomal recessive Glul (MGI:95739) -chr1 182447875 182560596 1q25 1q25.3 611012 RGSL1 Regulator of G protein signaling-like 1 RGSL1 353299 ENSG00000121446 Rgsl1 (MGI:2685048) -chr1 182573633 182589284 1q25 1q25.3 180435 RNASEL, RNS4, PRCA1, HPC1 Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) RNASEL 6041 ENSG00000135828 Prostate cancer 1, 601518 (3), Autosomal dominant Rnasel (MGI:1098272) -chr1 182598622 182604388 1q25-q31 1q25.3 602514 RGS16 Regulator of G protein signaling-16 RGS16 6004 ENSG00000143333 Rgs16 (MGI:108407) -chr1 182789772 182830383 1q25 1q25.3 611412 NPL, C1orf13, C112 N-acetylneuraminate pyruvate lyase NPL 80896 ENSG00000135838 Npl (MGI:1921341) -chr1 182839346 182887981 1q25 1q25.3 603115 DHX9, DDX9, NDHII DExH-box helicase 9 DHX9 1660 ENSG00000135829 Dhx9 (MGI:108177) -chr1 183023419 183145591 1q31 1q25.3 150290 LAMC1, LAMB2 Laminin, gamma-1 (formerly LAMB2) LAMC1 3915 ENSG00000135862 at least 3 genes, ?linked Lamc1 (MGI:99914) -chr1 183186263 183245126 1q25-q31 1q25.3 150292 LAMC2, LAMNB2, LAMB2T Laminin, gamma-2 (nicein, 100kD; kalinin, 105kD; BM600, 100kD) LAMC2 3918 ENSG00000058085 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive Lamc2 (MGI:99913) -chr1 183248236 183418379 1q25.3 1q25.3 608701 NMNAT2, PNAT2, KIAA0479 Nicotinamide nucleotide adenylyltransferase 2 NMNAT2 23057 ENSG00000157064 Nmnat2 (MGI:2444155) -chr1 183471992 183554192 1q25 1q25.3 610964 SMG7, EST1C, KIAA0250 SMG7 nonsense-mediated mRNA decay factor SMG7 9887 ENSG00000116698 Smg7 (MGI:2682334) -chr1 183555561 183590913 1q25 1q25.3 608515 NCF2 Neutrophil cytosolic factor-2, 65kD NCF2 4688 ENSG00000116701 Chronic granulomatous disease 2, autosomal recessive, 233710 (3), Autosomal recessive Ncf2 (MGI:97284) -chr1 183620845 183635782 1q25.3 1q25.3 604227 ARPC5, ARC16 Actin-related protein 2/3 complex, subunit 5 ARPC5 10092 ENSG00000162704 Arpc5 (MGI:1915021) -chr1 183636093 183928531 1q25.3 1q25.3 605667 RGL1, RGL Ral guanine nucleotide dissociation stimulator-like 1 RGL1 23179 ENSG00000143344 Rgl1 (MGI:107484) -chr1 183646274 183653315 1q25.3 1q25.3 609908 APOBEC4 Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 4 APOBEC4 403314 ENSG00000173627 Apobec4 (MGI:1918531) -chr1 183929661 184037727 1q25.3 1q25.3 617533 COLGALT2, GLT25D2, KIAA0584 Collagen beta(1-0)galactosyltransferase 2 COLGALT2 23127 ENSG00000198756 Colgalt2 (MGI:2138232) -chr1 184051729 184097484 1q25 1q25.3 608756 TSEN15, SEN15, C1orf19, PCH2F tRNA splicing endonuclease, subunit 15 TSEN15 116461 ENSG00000198860 Pontocerebellar hypoplasia, type 2F, 617026 (3), Autosomal recessive Tsen15 (MGI:1913887) -chr1 184690236 184754906 1q25.3 1q25.3 610214 EDEM3, C1orf22, CDG2V Endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 3 EDEM3 80267 ENSG00000116406 Congenital disorder of glycosylation, type 2V, 619493 (3), Autosomal recessive Edem3 (MGI:1914217) -chr1 184791031 184974507 1q25 1q25.3 619294 NIBAN1, C1orf24 Niban apoptosis regulator 1 NIBAN1 116496 ENSG00000135842 Niban1 (MGI:2137237) -chr1 185045429 185102602 1q25.3 1q25.3 608985 RNF2, RING2, RING1B, HIPI3, DING, BAP1, LUSYAM RING finger protein 2 RNF2 6045 ENSG00000121481 Luo-Schoch-Yamamoto syndrome, 619460 (3), Autosomal dominant Rnf2 (MGI:1101759) -chr1 185118100 185157097 1q25 1q25.3 611673 TRMT1L, C1orf25, TRM1L tRNA methyltransferase 1-like TRMT1L 81627 ENSG00000121486 Trmt1l (MGI:1916185) -chr1 185292366 185317291 1q25.3 1q25.3 609209 IVNS1ABP, NS1BP, ND1, IMD70 Influenza virus NS1A protein-binding protein IVNS1ABP 10625 ENSG00000116679 Immunodeficiency 70, 618969 (3), Autosomal dominant Ivns1abp (MGI:2152389) -chr1 185734390 186190948 1q24-q25 1q25.3-q31.1 608548 HMCN1, FBLN6, FIBL6, ARMD1 Hemicentin (fibulin 6) HMCN1 83872 ENSG00000143341 {Macular degeneration, age-related, 1}, 603075 (3), Autosomal dominant Hmcn1 (MGI:2685047) -chr1 185800000 190800000 1q31.1 609454 PSNP2 Supranuclear palsy, progressive, 2 619408 between D1S238 and D1S2823 Supranuclear palsy, progressive, 2, 609454 (2), Autosomal dominant -chr1 186296272 186314566 1q24-q25 1q31.1 604283 PRG4, CACP, MSF, SZP, HAPO Proteoglycan 4 (megakaryocyte stimulating factor; hemangiopoietin) PRG4 10216 ENSG00000116690 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3), Autosomal recessive Prg4 (MGI:1891344) -chr1 186311651 186375252 1q25 1q31.1 189940 TPR Tumor potentiating region (translocated promoter region) TPR 7175 ENSG00000047410 fused with MET in chemically induced tumor Tpr (MGI:1922066) -chr1 186375761 186421374 1q31.1 1q31.1 609335 ODR4, C1orf27 Odorant response abnormal 4, C. elegans, homolog of ODR4 54953 ENSG00000157181 Odr4 (MGI:2385108) -chr1 186443565 186461113 1q25-q31.1 1q31.1 171490 PDC Phosducin, pineal gland PDC 5132 ENSG00000116703 Pdc (MGI:98090) -chr1 186671790 186680422 1q25.2-q25.3 1q31.1 600262 PTGS2 Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) PTGS2 5743 ENSG00000073756 Ptgs2 (MGI:97798) -chr1 186680653 186681445 1q31.1 1q31.1 617650 PACERR, PTGS2AS1 PTGS2 antisense NFKB1 complex-mediated expression regulator RNA, noncoding PACERR 103752588 -chr1 186828948 186988980 1q25 1q31.1 600522 PLA2G4A, PLA2G4, GURDP Phospholipase A2, group IVA, cytosolic PLA2G4A 5321 ENSG00000116711 Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3), Autosomal recessive Pla2g4a (MGI:1195256) -chr1 190097657 190477996 1q31.1 1q31.1 618390 BRINP3, FAM5C Bone morphogenetic protein/retionoic acid-inducible neural-specific protein 3 BRINP3 339479 ENSG00000162670 Brinp3 (MGI:2443035) -chr1 192316991 192367284 1q31.2 1q31.2 612407 RGS21 Regulator of G protein signaling 21 RGS21 431704 ENSG00000253148 Rgs21 (MGI:3645243) -chr1 192575772 192580023 1q31 1q31.2 600323 RGS1, IER1, IR20 Regulator of G-protein signaling 1 RGS1 5996 ENSG00000090104 Rgs1 (MGI:1354694) -chr1 192809038 192812274 1q31 1q31.2 600861 RGS2, G0S8 G0 to G1 switch regulatory 8, 24kD RGS2 5997 ENSG00000116741 Rgs2 (MGI:1098271) -chr1 193012253 193060139 1q32 1q31.2 610667 UCHL5, UCH37 Ubiquitin carboxyl-terminal hydrolase L5 UCHL5 51377 ENSG00000116750 Uchl5 (MGI:1914848) -chr1 193059453 193091776 1q31 1q31.2 600063 TROVE2, RO60, SSA2 TROVE domain family, member 2 RO60 6738 ENSG00000116747 Ro60 (MGI:106652) -chr1 193096464 193106113 1q31.2-q31.3 1q31.2 606820 GLRX2, GRX2 Glutaredoxin 2 GLRX2 51022 ENSG00000023572 Glrx2 (MGI:1916617) -chr1 193122030 193254814 1q25-q31 1q31.2 607393 CDC73, HRPT2, C1orf28 Cell division cycle 73 CDC73 79577 ENSG00000134371 Hyperparathyroidism, familial primary, 145000 (3), Autosomal dominant; Parathyroid adenoma with cystic changes, 145001 (3), Autosomal dominant; Parathyroid carcinoma, 608266 (3); Hyperparathyroidism-jaw tumor syndrome, 145001 (3), Autosomal dominant Cdc73 (MGI:2384876) -chr1 193178729 193186612 1q31 1q31.2 603018 B3GALT2, GLCT2 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 2 B3GALT2 8707 ENSG00000162630 B3galt2 (MGI:1349461) -chr1 193800000 198700000 1q31 120502 BOS2 Branchiootic syndrome 2 64585 Branchiootic syndrome 2, 120502 (2), Autosomal dominant -chr1 193800000 198700000 1q31 612005 CELIAC7 Celiac disease, susceptibility to, 7 100301522 associated with rs2816316 {Celiac disease, susceptibility to, 7}, 612005 (2) -chr1 193800000 198700000 1q31 607516 MGR6, FHM3 Migraine, several forms 317773 {Migraine with or without aura, susceptibility to, 6}, 607516 (2), Autosomal dominant; {Migraine, familial hemiplegic, 4}, 607516 (2), Autosomal dominant -chr1 193800000 207100000 1q31.3-q32.1 614826 NYS7 Nystagmus 7, congenital, autosomal dominant 101055624 between D1S218 and D1S2655 Nystagmus 7, congenital, autosomal dominant, 614826 (2), Autosomal dominant -chr1 193800000 236400000 1q31-q42 145260 PHA2A, PHA2 Pseudohypoaldosteronism type IIA 7830 Pseudohypoaldosteronism, type IIA, 145260 (2), Autosomal dominant -chr1 193800000 198700000 1q31 176780 PVOP1 Pelvic organ prolapse, susceptibility to, 1 100312952 associated with rs10911193 {Pelvic organ prolapse, susceptibility to, 1}, 176780 (2), Autosomal dominant -chr1 196225778 196608559 1q31.3 1q31.3 610044 KCNT2, SLICK, DEE57 Potassium channel, subfamily T, member 2 KCNT2 343450 ENSG00000162687 Developmental and epileptic encephalopathy 57, 617771 (3), Autosomal dominant Kcnt2 (MGI:3036273) -chr1 196652032 196747503 1q32 1q31.3 134370 CFH, HF1, HUS, ARMD4, AHUS1 Complement factor H CFH 3075 ENSG00000000971 {Macular degeneration, age-related, 4}, 610698 (3); Basal laminar drusen, 126700 (3), Autosomal dominant; Complement factor H deficiency, 609814 (3), Autosomal dominant, Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3), Autosomal dominant, Autosomal recessive Cfh,Cfhr4 (MGI:3646434,MGI:88385) -chr1 196774815 196795406 1q31-q32.1 1q31.3 605336 CFHR3, FHR3, HLF4, CFHL3 Complement factor H-related 3 CFHR3 10878 ENSG00000116785 {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal dominant, Autosomal recessive Cfhr2 (MGI:3611575) -chr1 196819730 196832188 1q31-q32.1 1q31.3 134371 CFHR1, FHR1, HFL1, CFHL1 Complement factor H-related 1 CFHR1 3078 ENSG00000244414 {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal dominant, Autosomal recessive Cfhr1 (MGI:2138169) -chr1 196888050 196918910 1q31-q32.1 1q31.3 605337 CFHR4, FHR4, CFHL4 Complement factor H-related 4 CFHR4 10877 ENSG00000134365 Cfh,Cfhr2 (MGI:3611575,MGI:88385) -chr1 196943737 196959621 1q31-q32.1 1q31.3 600889 CFHR2, FHR2, HFL3, CFHL2 Complement factor H-related 2 CFHR2 3080 ENSG00000080910 in same 165kb YAC as F13B Cfhr1 (MGI:2138169) -chr1 196975021 197009724 1q32 1q31.3 608593 CFHR5, CFHL5, FHR5, CFHR5D Complement factor H-related 5 CFHR5 81494 ENSG00000134389 Nephropathy due to CFHR5 deficiency, 614809 (3), Autosomal dominant -chr1 197038740 197067263 1q31-q32.1 1q31.3 134580 F13B Coagulation factor XIII, B polypeptide F13B 2165 ENSG00000143278 Factor XIIIB deficiency, 613235 (3), Autosomal recessive F13b (MGI:88379) -chr1 197084126 197146668 1q31 1q31.3 605481 ASPM, MCPH5 Abnormal spindle-like, microcephaly-associated ASPM 259266 ENSG00000066279 Microcephaly 5, primary, autosomal recessive, 608716 (3), Autosomal recessive Aspm (MGI:1334448) -chr1 197201503 197478454 1q31-q32.1 1q31.3 604210 CRB1, RP12, LCA8 Crumbs cell polarity complex component 1 CRB1 23418 ENSG00000134376 Leber congenital amaurosis 8, 613835 (3), Autosomal recessive; Retinitis pigmentosa-12, 600105 (3), Autosomal recessive; Pigmented paravenous chorioretinal atrophy, 172870 (3), Autosomal dominant Crb1 (MGI:2136343) -chr1 197504747 197782137 1q31.3 1q31.3 613292 DENND1B, FAM31B, C1orf18 DENN/MADD domain-containing 1B DENND1B 163486 ENSG00000213047 Dennd1b (MGI:2447812) -chr1 197912463 197935477 1q31-q32 1q31.3 606066 LHX9 LIM homeo box gene 9 LHX9 56956 ENSG00000143355 Lhx9 (MGI:1316721) -chr1 198156997 198322419 1q31.3 1q31.3 606848 NEK7 NIMA-related kinase 7 NEK7 140609 ENSG00000151414 Nek7 (MGI:1890645) -chr1 198523221 198540944 1q31.2-q31.3 1q31.3 618071 ATP6V1G3 ATPase, H+ transporting, V1 subunit G3 ATP6V1G3 127124 ENSG00000151418 Atp6v1g3 (MGI:2450548) -chr1 198639024 198757475 1q31-q32 1q31.3-q32.1 151460 PTPRC, CD45, LCA Protein tyrosine phosphatase, receptor type, c polypeptide PTPRC 5788 ENSG00000081237 Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3), Autosomal recessive; {Hepatitis C virus, susceptibility to}, 609532 (3) Ptprc (MGI:97810) -chr1 198700000 236400000 1q32.1-q42 139280 GUK2 Guanylate kinase-2 GUK2 2988 genetic independence of GUK1 and GUK2 unproved -chr1 198700000 207100000 1q32.1 612381 IBD23 Inflammatory bowel disease 23 100240733 associated with rs3024505 {Inflammatory bowel disease 23}, 612381 (2) -chr1 198858872 198858981 1q31.3 1q32.1 612744 MIR181B1, MIRN181B1 Micro RNA 181B1 MIR181B1 406955 ENSG00000207975 Mir181b-1 (MGI:3618735) -chr1 198859043 198859152 1q31.3 1q32.1 612742 MIR181A1, MIR213, MIRN181A1 Micro RNA 181A1 MIR181A1 406995 ENSG00000207759 Mir181a-1 (MGI:3629589) -chr1 200027709 200177414 1q32.1 1q32.1 604453 NR5A2, FTF, HB1F Nuclear receptor subfamily 5, group A, member 2 (fetoprotein transcription factor) NR5A2 2494 ENSG00000116833 Nr5a2 (MGI:1346834) -chr1 200404950 200410035 1q32.1 1q32.1 618703 ZNF281, ZBP99, GZP1 Zinc finger ptoein 281 ZNF281 23528 ENSG00000162702 Zfp281 (MGI:3029290) -chr1 200551496 200620790 1q31 1q32.1 611279 KIF14, KIAA0042, MKS12, MCPH20 Kinesin family member 14 KIF14 9928 ENSG00000118193 mutation identified in 1 MKS12 family Microcephaly 20, primary, autosomal recessive, 617914 (3), Autosomal recessive; ?Meckel syndrome 12, 616258 (3), Autosomal recessive Kif14 (MGI:1098226) -chr1 200640804 200669968 1q32.1 1q32.1 615464 DDX59, OFD5 DEAD-box helicase 59 DDX59 83479 ENSG00000118197 Orofaciodigital syndrome V, 174300 (3), Autosomal recessive Ddx59 (MGI:1915247) -chr1 200738892 200860706 1q32.1 1q32.1 613775 CAMSAP1L, CAMSAP2, KIAA1078 Calmodulin-regulated spectrin-associated protein 1-like 1 CAMSAP2 23271 ENSG00000118200 Camsap2 (MGI:1922434) -chr1 200872980 200874177 1q32.1 1q32.1 602174 GPR25 G protein-coupled receptor-25 GPR25 2848 ENSG00000170128 Gpr25 (MGI:2686146) -chr1 200891073 200915741 1q32.1 1q32.1 618051 INAVA, C1orf106, IBD29 Innate immunity activator INAVA 55765 ENSG00000163362 {Inflammatory bowel disease 29}, 618077 (3), Autosomal dominant Inava (MGI:1921579) -chr1 200969389 201023713 1q31-q32 1q32.1 608322 KIF21B, KIAA0449 Kinesin family member 21B KIF21B 23046 ENSG00000116852 Kif21b (MGI:109234) -chr1 201039508 201112452 1q32 1q32.1 114208 CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1, MHS5 Calcium channel, voltage-dependent, L type, alpha 1S subunit CACNA1S 779 ENSG00000081248 {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3), Autosomal dominant; Hypokalemic periodic paralysis, type 1, 170400 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 5}, 601887 (3), Autosomal dominant Cacna1s (MGI:88294) -chr1 201134771 201171624 1q41 1q32.1 616877 TMEM9, TMEM9A, DERM4 Transmembrane protein 9 TMEM9 252839 ENSG00000116857 Tmem9 (MGI:1913491) -chr1 201190779 201228951 1q32.1 1q32.1 617309 IGFN1, EEF1A2BP1 Immunoglobulin-like and fibronectin type III domains-containing protein 1 IGFN1 91156 ENSG00000163395 Igfn1 (MGI:3045352) -chr1 201283505 201332988 1q32 1q32.1 601975 PKP1, EDSFS Plakophilin-1 PKP1 5317 ENSG00000081277 Ectodermal dysplasia/skin fragility syndrome, 604536 (3), Autosomal recessive Pkp1 (MGI:1328359) -chr1 201359013 201377827 1q32 1q32.1 191045 TNNT2, CMH2, CMD1D, RCM3, LVNC6 Troponin-T2, cardiac TNNT2 7139 ENSG00000118194 Cardiomyopathy, dilated, 1D, 601494 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 2, 115195 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 3, 612422 (3), Autosomal dominant; Left ventricular noncompaction 6, 601494 (3), Autosomal dominant Tnnt2 (MGI:104597) -chr1 201380832 201399323 1q25.1-q32.3 1q32.1 602314 LAD1 Ladinin LAD1 3898 ENSG00000159166 Lad1 (MGI:109343) -chr1 201403783 201421729 1q31.3 1q32.1 191042 TNNI1 Troponin-I, skeletal, slow TNNI1 7135 ENSG00000159173 Tnni1 (MGI:105073) -chr1 201464277 201469187 1q31 1q32.1 607054 PHLDA3, TIH1 Pleckstrin homology-like domain, family A, member 3 PHLDA3 23612 ENSG00000174307 Phlda3 (MGI:1351485) -chr1 201483529 201507122 1q32 1q32.1 123876 CSRP1, CSRP Cysteine and glycine-rich protein-1 CSRP1 1465 ENSG00000159176 Csrp1 (MGI:88549) -chr1 201539126 201826968 1q31 1q32.1 611628 NAV1, POMFIL3, KIAA1151 Neuron navigator 1 NAV1 89796 ENSG00000134369 Nav1 (MGI:2183683) -chr1 201808610 201808701 1q32.1 1q32.1 617040 MIR1231 Micro RNA 1231 MIR1231 100302158 ENSG00000221028 Mir1231 (MGI:5453497) -chr1 201888676 201892586 1q32.1 1q32.1 617326 SHISA4, C1orf40, TMEM58 Shisa family, member 4 SHISA4 149345 ENSG00000198892 Shisa4 (MGI:1924802) -chr1 201896455 201946547 1q32 1q32.1 602715 LMOD1, SMLMOD, 1D, MMIHS3 Leiomodin 1 LMOD1 25802 ENSG00000163431 mutation identified in 1 MMIHD3 patient ?Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, 619362 (3), Autosomal recessive Lmod1 (MGI:2135671) -chr1 201955502 201970663 1q32 1q32.1 605057 TIMM17A, TIM17A Translocase of inner mitochondrial membrane 17A TIMM17A 10440 ENSG00000134375 Timm17a (MGI:1343131) -chr1 201982647 202006142 1q32.1-q32.2 1q32.1 602675 RNPEP Arginyl aminopeptidase (aminopeptidase B) RNPEP 6051 ENSG00000176393 Rnpep (MGI:2384902) -chr1 202010582 202017182 1q32 1q32.1 602191 ELF3, ESX E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific) ELF3 1999 ENSG00000163435 Elf3 (MGI:1101781) -chr1 202118668 202133591 1q32.1 1q32.1 617630 GPR37L1, ETBRLP2 G protein-coupled receptor 37-like 1 GPR37L1 9283 ENSG00000170075 Gpr37l1 (MGI:1928503) -chr1 202133403 202144736 1q32.1 1q32.1 616597 ARL8A, GIE2 ADP ribosylation factor-like GTPase 8A ARL8A 127829 ENSG00000143862 Arl8a (MGI:1915974) -chr1 202147011 202161587 1q32.1 1q32.1 176889 PTPN7 Protein tyrosine phosphatase, nonreceptor-type, 7 PTPN7 5778 ENSG00000143851 Ptpn7 (MGI:2156893) -chr1 202193798 202319760 1q32 1q32.1 606653 LGR6 Leucine-rich repeat-containing G protein-coupled receptor-6 LGR6 59352 ENSG00000133067 Lgr6 (MGI:2441805) -chr1 202331656 202341935 1q31 1q32.1 610538 UBE2T, HSPC150, FANCT Ubiquitin-conjugating enzyme E2T UBE2T 29089 ENSG00000077152 Fanconi anemia, complementation group T, 616435 (3), Autosomal recessive Ube2t (MGI:1914446) -chr1 202348698 202592701 1q32.1 1q32.1 603768 PPP1R12B, MYPT2 Protein phosphatase 1, regulatory subunit 12B (myosin phosphatase target subunit 2) PPP1R12B 4660 ENSG00000077157 Ppp1r12b (MGI:1916417) -chr1 202590595 202710453 1q32.1 1q32.1 600104 SYT2, CMS7A, MYSPC, CMS7B Synaptotagmin-2 SYT2 127833 ENSG00000143858 Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, 616040 (3), Autosomal dominant; Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, 619461 (3), Autosomal recessive Syt2 (MGI:99666) -chr1 202724494 202809469 1q32 1q32.1 605393 KDM5B, JARID1B, PUT1, PLU1, RBBP2H1A, MRT65 Lysine-specific demethylase 5B KDM5B 10765 ENSG00000117139 Mental retardation, autosomal recessive 65, 618109 (3), Autosomal recessive Kdm5b (MGI:1922855) -chr1 202878281 202889148 1q32-q41 1q32.1 603417 RABIF, RASGFR3, MSS4 Rab-interacting factor (Ras-specific guanine-releasing factor-3; mammalian suppressor of SEC4) RABIF 5877 ENSG00000183155 Rabif (MGI:2138605) -chr1 202891115 202928627 1q32.1 1q32.1 614522 KLHL12, DKIR Kelch-like 12 KLHL12 59349 ENSG00000117153 Klhl12 (MGI:2385619) -chr1 202940824 202958571 1q32.1 1q32.1 607945 ADIPOR1, CGI45 Adiponectin receptor 1 ADIPOR1 51094 ENSG00000159346 Adipor1 (MGI:1919924) -chr1 202961872 202967256 1q32 1q32.1 608341 CYB5BR1, NQO3A2, B5R.1 Cytochrome b5 reductase 1 CYB5R1 51706 ENSG00000159348 Cyb5r1 (MGI:1919267) -chr1 203026490 203078735 1q32.1 1q32.1 603145 PPFIA4 Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting protein alpha 4 PPFIA4 8497 ENSG00000143847 Ppfia4 (MGI:1915757) -chr1 203083128 203086011 1q31-q41 1q32.1 159980 MYOG, MYF4 Myogenic factor-4; myogenin MYOG 4656 ENSG00000122180 Myog (MGI:97276) -chr1 203127704 203167404 1q32.1 1q32.1 102775 ADORA1, RDC7 Adenosine A1 receptor ADORA1 134 ENSG00000163485 Adora1 (MGI:99401) -chr1 203167810 203175825 1q32.1 1q32.1 160795 MYBPH Myosin-binding protein H MYBPH 4608 ENSG00000133055 Mybph (MGI:1858196) -chr1 203178930 203186703 1q32.1 1q32.1 601525 CHI3L1, GP39, YKL40, ASRT7 Chitinase 3-like 1 (cartilage glycoprotein-39) CHI3L1 1116 ENSG00000133048 {Asthma-related traits, susceptibility to, 7}, 611960 (3); {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant Chil1 (MGI:1340899) -chr1 203216078 203229672 1q31-q32 1q32.1 600031 CHIT, CHITD Chitotriosidase CHIT1 1118 ENSG00000133063 [Chitotriosidase deficiency], 614122 (3), Autosomal recessive Chit1 (MGI:1919134) -chr1 203305518 203309601 1q32 1q32.1 601597 BTG2, PC3 BTG antiproliferation factor 2 BTG2 7832 ENSG00000159388 Btg2 (MGI:108384) -chr1 203340627 203351121 1q32.1 1q32.1 600245 FMOD Fibromodulin FMOD 2331 ENSG00000122176 Fmod (MGI:1328364) -chr1 203404220 203407624 1q32.1 1q32.1 618553 BMNCR Bone marrow associated noncoding RNA BMNCR 107985249 Bmncr (MGI:5590788) -chr1 203475805 203491351 1q32 1q32.1 601914 PRELP Proline arginine-rich end leucine-rich repeat protein PRELP 5549 ENSG00000188783 Prelp (MGI:2151110) -chr1 203494152 203508948 1q32.1 1q32.1 605127 OPTC Opticin OPTC 26254 ENSG00000188770 Optc (MGI:2151113) -chr1 203626831 203744080 1q25-q32 1q32.1 108732 ATP2B4, ATP2B2, PMCA4 ATPase, Ca++ transporting, plasma membrane, 4 ATP2B4 493 ENSG00000058668 Atp2b4 (MGI:88111) -chr1 203795622 203854125 1q32.1 1q32.1 613513 ZC3H11A, KIAA0663 Zinc finger CCCH domain-containing protein 11A ZC3H11A 9877 ENSG00000058673 Zc3h11a (MGI:1917829) -chr1 203797522 203801073 1q32.1 1q32.1 613512 ZBED6 Zinc finger BED domain-containing protein 6 ZBED6 100381270 ENSG00000257315 in intron 1 of ZC3H11A Zbed6 (MGI:3828086) -chr1 203861598 203871151 1q32 1q32.1 128260 SNRPE, HYPT11 Small nuclear ribonucleoprotein polypeptide E SNRPE 6635 ENSG00000182004 Hypotrichosis 11, 615059 (3), Autosomal dominant Snrpe (MGI:98346) -chr1 204073095 204127742 1q32 1q32.1 604748 SOX13, ICA12 SRY-box 13 SOX13 9580 ENSG00000143842 Sox13 (MGI:98361) -chr1 204131061 204152043 1q32.1 1q32.1 609859 ETNK2, EKI2 Ethanolamine kinase 2 ETNK2 55224 ENSG00000143845 Etnk2 (MGI:2443760) -chr1 204154818 204166336 1q32 1q32.1 179820 REN, RTD, ADTKD4 Renin REN 5972 ENSG00000143839 ~24cM distal to AT3 Renal tubular dysgenesis, 267430 (3), Autosomal recessive; [Hyperproreninemia] (3); Tubulointerstitial kidney disease, autosomal dominant, 4, 613092 (3), Autosomal dominant Ren1,Ren2 (MGI:97899,MGI:97898) -chr1 204190340 204196490 1q32 1q32.1 603286 KISS1, HH13 KISS1 metastasis suppressor KISS1 3814 ENSG00000170498 mutation identified in 1 HH13 family ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3), Autosomal recessive Kiss1 (MGI:2663985) -chr1 204218852 204378376 1q32.1 1q32.1 607771 PEPP3, KIAA0969 Phosphatidylinositol 3-phosphate-binding PH domain protein 3 PLEKHA6 22874 ENSG00000143850 Plekha6 (MGI:2388662) -chr1 204398683 204412453 1q32.1 1q32.1 613257 PPP1R15B, CREP, MSSGM2 Protein phosphatase 1, regulatory subunit 15B PPP1R15B 84919 ENSG00000158615 Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3), Autosomal recessive Ppp1r15b (MGI:2444211) -chr1 204422632 204494814 1q32 1q32.1 602838 PIK3C2B Phosphatidylinositol 3-kinase, class 2, beta polypeptide PIK3C2B 5287 ENSG00000133056 Pik3c2b (MGI:2685045) -chr1 204516376 204558119 1q32 1q32.1 602704 MDM4, BMFS6 MDM4 regulator of p53 MDM4 4194 ENSG00000198625 mutation identified in 1 BMFS6 family ?Bone marrow failure syndrome 6, 618849 (3), Autosomal dominant Mdm4 (MGI:107934) -chr1 204617169 204685835 1q32.1 1q32.1 605492 LRRN2, GAC1, LRANK1 Leucine-rich repeat protein, neuronal, 2 LRRN2 10446 ENSG00000170382 Lrrn2 (MGI:106037) -chr1 204828651 205022821 1q32.1 1q32.1 609145 NFASC, KIAA0756, NEDCPMD Neurofascin NFASC 23114 ENSG00000163531 Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 (3), Autosomal recessive Nfasc (MGI:104753) -chr1 205042936 205078288 1q32.1 1q32.1 190197 CNTN2, TAX, TAX1, FAME5 Contactin 2 (transiently-expressed axonal glycoprotein) CNTN2 6900 ENSG00000184144 1 family identified with mutation ?Epilepsy, myoclonic, familial adult, 5, 615400 (3), Autosomal recessive Cntn2 (MGI:104518) -chr1 205086141 205122014 1q32 1q32.1 600697 RBBP5, RBQ3 Retinoblastoma-binding protein-5 RBBP5 5929 ENSG00000117222 Rbbp5 (MGI:1918367) -chr1 205142496 205211701 1q32.1 1q32.1 612666 DSTYK, KIAA0472, RIP5, DUSTYPK, CAKUT1, SPG23 Dual serine/threonine and tyrosine protein kinase DSTYK 25778 ENSG00000133059 Congenital anomalies of kidney and urinary tract 1, 610805 (3), Autosomal dominant; Spastic paraplegia 23, 270750 (3), Autosomal recessive Dstyk (MGI:1925064) -chr1 205227945 205273342 1q32.1 1q32.1 619429 TMCC2 Transmembrane and coiled-coil domain family, member 2 TMCC2 9911 ENSG00000133069 Tmcc2 (MGI:1916125) -chr1 205302058 205321744 1q32 1q32.1 608131 NUAK2, SNARK, ANPH2 NUAK family, SNF1-like kinase, 2 NUAK2 81788 ENSG00000163545 mutation identified in 1 ANPH2 family ?Anencephaly 2, 619452 (3), Autosomal recessive Nuak2 (MGI:1921387) -chr1 205336060 205357038 1q32.1 1q32.1 614503 KLHDC8A Kelch domain-containing protein 8A KLHDC8A 55220 ENSG00000162873 Klhdc8a (MGI:2442630) -chr1 205381377 205449955 1q32.1 1q32.1 610480 LEMD1 LEM domain-containing protein 1 LEMD1 93273 ENSG00000186007 Lemd1 (MGI:1922403) -chr1 205434885 205456085 1q32.1 1q32.1 615480 BLACAT1, LINC00912 Bladder cancer-associated transcript 1, noncoding BLACAT1 101669762 -chr1 205504592 205532792 1q31-q32 1q32.1 169190 CDK18, PCTK3 Cyclin-dependent kinase 18 CDK18 5129 ENSG00000117266 Cdk18 (MGI:97518) -chr1 205607942 205632871 1q32 1q32.1 600246 ELK4, SAP1 ELK4, ETS-domain protein (SRF accessory protein 1) ELK4 2005 ENSG00000158711 Elk4 (MGI:102853) -chr1 205657850 205680508 1q32.1 1q32.1 605097 SLC45A3, PRST, PCANAP6, IPCA6 Solute carrier family 45, member 3 (prostein) SLC45A3 85414 ENSG00000158715 Slc45a3 (MGI:1922082) -chr1 205712821 205750219 1q32.1 1q32.1 611912 NUCKS1, NUCKS Nuclear casein kinase and cyclin-dependent kinase substrate 1 NUCKS1 64710 ENSG00000069275 Nucks1 (MGI:1934811) -chr1 205767985 205775486 1q32 1q32.1 603949 RAB7L1 RAB7-like 1 RAB29 8934 ENSG00000117280 Rab29 (MGI:2385107) -chr1 205789094 205813758 1q31-q32 1q32.1 610801 SLC41A1, NPHPL2 Solute carrier family 41, member 1 SLC41A1 254428 ENSG00000133065 mutation identified in 1 NPHPL2 family ?Nephronophthisis-like nephropathy 2, 619468 (3), Autosomal recessive Slc41a1 (MGI:2444823) -chr1 205828024 205850131 1q32.1 1q32.1 617124 PM20D1 Peptidase M20 domain-containing protein 1 PM20D1 148811 ENSG00000162877 Pm20d1 (MGI:2442939) -chr1 205913047 205943471 1q32.1 1q32.1 608481 SLC26A9 Solute carrier family 26 (sulfate transporter), member 9 SLC26A9 115019 ENSG00000174502 Slc26a9 (MGI:2444594) -chr1 206009263 206023898 1q31 1q32.1 116890 CTSE Cathepsin E CTSE 1510 ENSG00000196188 closely linked to REN Ctse (MGI:107361) -chr1 206053172 206102448 1q32.1 1q32.1 616088 RHEX, C1orf186, RHEX Regulator of hemoglobinization and erythroid cell expansion RHEX 440712 ENSG00000263961 -chr1 206106935 206117387 1q32 1q32.1 600264 AVPR1B, AVPR3 Arginine vasopressin receptor-1B AVPR1B 553 ENSG00000198049 Avpr1b (MGI:1347010) -chr1 206186178 206205772 1q32 1q32.1 614710 FAM72A, LMPIP, UGENE Family with sequence similarity 72, member A FAM72A 729533 ENSG00000196550 Fam72a (MGI:1919669) -chr1 206203540 206464435 1q32.1 1q32.1 606524 SRGAP2, KIAA0456 Slit-robo GTPase-activating protein, rho, 2 SRGAP2 23380 ENSG00000266028 Srgap2 (MGI:109605) -chr1 206470242 206496889 1q32.1 1q32.1 605048 IKBKE Inhibitor of nuclear factor kappa-B kinase, subunit epsilon IKBKE 9641 ENSG00000263528 Ikbke (MGI:1929612) -chr1 206507530 206589447 1q32.1 1q32.1 607020 RASSF5, NORE1 Ras association (RalGDS/AF-6) domain family 5 (Nore1, mouse, homolog of) RASSF5 83593 ENSG00000266094 Rassf5 (MGI:1926375) -chr1 206572483 206612465 1q32.1 1q32.1 613709 EIF2D, HCA56 Eukaryotic translation initiation factor 2D EIF2D 1939 ENSG00000143486 Eif2d (MGI:109342) -chr1 206635535 206655157 1q32.2 1q32.1 603497 DYRK3 Dual-specificity tyrosine phosphorylation-regulated kinase 3 DYRK3 8444 ENSG00000143479 Dyrk3 (MGI:1330300) -chr1 206684904 206734282 1q32.1 1q32.1 602006 MAPKAPK2, MK2 Mitogen-activated protein kinase-activated protein kinase 2 MAPKAPK2 9261 ENSG00000162889 Mapkapk2 (MGI:109298) -chr1 206767601 206772493 1q31-q32 1q32.1 124092 IL10, CSIF, GVHDS Interleukin-10 IL10 3586 ENSG00000136634 {Rheumatoid arthritis, progression of}, 180300 (3); {Graft-versus-host disease, protection against}, 614395 (3); {HIV-1, susceptibility to}, 609423 (3) Il10 (MGI:96537) -chr1 206770772 206842980 1q32 1q32.1 605687 IL19 Interleukin 19 IL19 29949 ENSG00000142224 Il19 (MGI:1890472) -chr1 206863564 206869222 1q32 1q32.1 605619 IL20 Interleukin 20 IL20 50604 ENSG00000162891 Il20 (MGI:1890473) -chr1 206897403 206904138 1q32 1q32.1 604136 IL24, ST16, MDA7 Interleukin 24 (suppression of tumorigenicity 16) IL24 11009 ENSG00000162892 Il24 (MGI:2135548) -chr1 206903281 206922000 1q32.2 1q32.1 606015 FAIM3, TOSO, FCMR Fas apoptotic inhibitory molecule 3 FCMR 9214 ENSG00000162894 Fcmr (MGI:1916419) -chr1 206928521 206946465 1q31-q42 1q32.1 173880 PIGR Polymeric immunoglobulin receptor PIGR 5284 ENSG00000162896 Pigr (MGI:103080) -chr1 206957954 206970656 1q32.3 1q32.1 605484 FCAMR Fc fragment of IgA and IgM, receptor for FCAMR 83953 ENSG00000162897 Fcamr (MGI:1927803) -chr1 207018520 207032760 1q32.2 1q32.1 611680 SARG, C1orf116 Specifically androgen-regulated gene C1orf116 79098 ENSG00000182795 AA986860 (MGI:2138143) -chr1 207043848 207053115 1q32.1 1q32.1 612023 YOD1, OTUD2, DUBA8 YOD1 deubiquitinase YOD1 55432 ENSG00000180667 Yod1 (MGI:2442596) -chr1 207053062 207081026 1q31 1q32.1 171835 PFKFB2 Fructose-2,6-bisphosphatase, cardiac isozyme PFKFB2 5208 ENSG00000123836 Pfkfb2 (MGI:107815) -chr1 207088794 207099992 1q32 1q32.1 120831 C4BPB Complement component 4-binding protein, beta polypeptide C4BPB 725 ENSG00000123843 -chr1 207104231 207144971 1q32 1q32.2 120830 C4BPA Complement component 4-binding protein, alpha polypeptide C4BPA 722 ENSG00000123838 same RE fragment as C4BPB C4bp,Zp3r (MGI:104965,MGI:88229) -chr1 207321673 207360965 1q32 1q32.2 125240 CD55, DAF, CROM, CHAPLE CD55 antigen (blood group Cromer) CD55 1604 ENSG00000196352 [Blood group Cromer], 613793 (3), Autosomal recessive; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive Cd55,Cd55b (MGI:104850,MGI:104849) -chr1 207454327 207489891 1q32 1q32.2 120650 CR2, C3DR, SLEB9, CVID7 Complement component (3d/Epstein-Barr virus) receptor-2 CR2 1380 ENSG00000117322 {Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3); Immunodeficiency, common variable, 7, 614699 (3), Autosomal recessive Cr2 (MGI:88489) -chr1 207496156 207641764 1q32 1q32.2 120620 CR1, C3BR Complement component (3b/4b) receptor-1 CR1 1378 ENSG00000203710 [Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3) Cr1l (MGI:88513) -chr1 207645132 207723702 1q32 1q32.2 605886 CR1L Complement component receptor 1-like CR1L 1379 ENSG00000197721 Cr1l (MGI:88513) -chr1 207752037 207795515 1q32 1q32.2 120920 MCP, CD46, AHUS2 Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen) CD46 4179 ENSG00000117335 {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3), Autosomal dominant, Autosomal recessive Cd46 (MGI:1203290) -chr1 207801851 207801938 1q32.2 1q32.2 610784 MIR29C, MIRN29C Micro RNA 29C MIR29C 407026 ENSG00000284214 Mir29c (MGI:2676906) -chr1 207802442 207802522 1q32 1q32.2 619035 MIR29B2 Micro RNA 29B2 MIR29B2 407025 ENSG00000284203 Mir29b-2 (MGI:3619047) -chr1 207880971 207911124 1q32 1q32.2 142230 CD34 CD34 antigen CD34 947 ENSG00000174059 Cd34 (MGI:88329) -chr1 208022241 208244383 1q32.2 1q32.2 601054 PLXNA2, OCT, PLXN2 Plexin A2 (OCT transmembrane protein) PLXNA2 5362 ENSG00000076356 Plxna2 (MGI:107684) -chr1 209432132 209432241 1q32.2 1q32.2 613147 MIR205, MIRN205 Micro RNA 205 MIR205 406988 ENSG00000284485 Mir205 (MGI:2676880) -chr1 209583713 209613938 1q32-q41 1q32.2 614994 CAMK1G, CLICK3 Calcium/calmodulin-dependent protein kinase IG CAMK1G 57172 ENSG00000008118 Camk1g (MGI:2388073) -chr1 209614869 209652466 1q32 1q32.2 150310 LAMB3, AI1A Laminin, beta-3 (nicein, 125kD; kalinin, 140kD; BM600, 125kD) LAMB3 3914 ENSG00000196878 Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Amelogenesis imperfecta, type IA, 104530 (3), Autosomal dominant Lamb3 (MGI:99915) -chr1 209675411 209676389 1q32-q41 1q32.2 614447 G0S2 G0/G1 switch gene 2 G0S2 50486 ENSG00000123689 G0s2 (MGI:1316737) -chr1 209686178 209734928 1q32-q41 1q32.2 600713 HSD11B1, HSD11, HSD11L, CORTRD2 Hydroxysteroid, 11-beta, dehydrogenase 1 HSD11B1 3290 ENSG00000117594 digenic triallelic mutations with H6PD Cortisone reductase deficiency 2, 614662 (3), Autosomal dominant Hsd11b1 (MGI:103562) -chr1 209756052 209782316 1q32.3-q41 1q32.2 608255 TRAF3IP3, T3JAM TRAF3-interacting protein 3 TRAF3IP3 80342 ENSG00000009790 Traf3ip3 (MGI:2441706) -chr1 209785616 209806141 1q32-q41 1q32.2 607199 IRF6, VWS, LPS, PIT, PPS1, OFC6 Interferon regulatory factor 6 IRF6 3664 ENSG00000117595 OFC6 in enhancer 5' of IRF6 {Orofacial cleft 6}, 608864 (3), Autosomal dominant; Popliteal pterygium syndrome 1, 119500 (3), Autosomal dominant; van der Woude syndrome, 119300 (3), Autosomal dominant Irf6 (MGI:1859211) -chr1 209938164 210171388 1q32.2 1q32.2 610949 SYT14, SCAR11 Synaptotagmin 14 SYT14 255928 ENSG00000143469 mutation identified in 1 SCAR11 family ?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3), Autosomal recessive Syt14 (MGI:2444490) -chr1 210327872 210676297 1q32 1q32.2 605743 HHAT, MART2, SKI1, NNMS Hedgehog acyltransferase HHAT 55733 ENSG00000054392 Nivelon-Nivelon-Mabille syndrome, 600092 (3), Autosomal recessive Hhat (MGI:2444681) -chr1 210678313 211134147 1q32-q41 1q32.2 603305 KCNH1, EAG, TMBTS, ZLS1 Potassium voltage-gated channel, subfamily H, member 1 (ether-a-go-go, drosophila, homolog of) KCNH1 3756 ENSG00000143473 Zimmermann-Laband syndrome 1, 135500 (3), Autosomal dominant; Temple-Baraitser syndrome, 611816 (3), Autosomal dominant Kcnh1 (MGI:1341721) -chr1 211300000 214400000 1q32 137950 GFND1 Glomerulopathy with fibronectin deposits 1 100689213 max lod at D1S2782 Glomerulopathy with fibronectin deposits 1, 137950 (2), Autosomal dominant -chr1 211300000 214400000 1q32 613164 PARK16 Parkinson disease 16 100359403 associated with rs823128 {Parkinson disease 16}, 613164 (2) -chr1 211300000 214400000 1q32 140400 PFHB2 Progressive familial heart block, type II 105463127 between D1S70 and D1S505 Progressive familial heart block, type II, 140400 (2), Autosomal dominant -chr1 211326593 211374945 1q32 1q32.3 602356 TRAF5 TNF receptor-associated factor 5 TRAF5 7188 ENSG00000082512 Traf5 (MGI:107548) -chr1 211476521 211492161 1q32.3 1q32.3 180040 RD3, LCA12, C1orf36 Retinal degeneration 3, GUCY2D regulator RD3 343035 ENSG00000198570 Leber congenital amaurosis 12, 610612 (3), Autosomal recessive Rd3 (MGI:1921273) -chr1 211571567 211579160 1q32.3 1q32.3 609521 SLC30A1, ZNT1 Solute carrier family 30 (zinc transporter), member 1 SLC30A1 7779 ENSG00000170385 Slc30a1 (MGI:1345281) -chr1 211658255 211675620 1q32.2-q41 1q32.3 604043 NEK2, RP67 NIMA-related kinase 2 NEK2 4751 ENSG00000117650 pseudogenes on chr. 2, 14, and 22; mutation identified in 1 family ?Retinitis pigmentosa 67, 615565 (3), Autosomal recessive Nek2 (MGI:109359) -chr1 211743456 211830762 1q32.3 1q32.3 610473 LPGAT1 Lysophosphatidylglycerol acyltransferase 1 LPGAT1 9926 ENSG00000123684 Lpgat1 (MGI:2446186) -chr1 211940327 212035556 1q32.3 1q32.3 611350 INTS7, INT7 Integrator complex subunit 7 INTS7 25896 ENSG00000143493 Ints7 (MGI:1924315) -chr1 212035747 212105012 1q32.1-q32.2 1q32.3 610617 DTL, RAMP, DCAF2, CDT2 Denticleless E3 ubiquitin protein ligase homolog DTL 51514 ENSG00000143476 Dtl (MGI:1924093) -chr1 212285409 212361852 1q41 1q32.3 601643 PPP2R5A Protein phosphatase-2, regulatory subunit B (B56), alpha isoform PPP2R5A 5525 ENSG00000066027 Ppp2r5a (MGI:2388479) -chr1 212363927 212414885 1q32.3 1q32.3 618427 PACC1, TMEM206 Proton-activated chloride channel 1 PACC1 55248 ENSG00000065600 Pacc1 (MGI:1914200) -chr1 212432919 212446378 1q32.3 1q32.3 611874 NENF, CIR2 Neuron-derived neurotrophic factor NENF 29937 ENSG00000117691 Nenf (MGI:1913458) -chr1 212565406 212620776 1q32.3 1q32.3 603148 ATF3 Activating transcription factor 3 ATF3 467 ENSG00000162772 Atf3 (MGI:109384) -chr1 212686416 212699942 1p32.3 1q32.3 612470 BATF3 Basic leucine zipper transcription factor, ATF-like, 3 BATF3 55509 ENSG00000123685 Batf3 (MGI:1925491) -chr1 212726152 212798899 1q41 1q32.3 609174 NSL1, DC8, C1orf48 NSL1, MIS12 kinetochore complex component NSL1 25936 ENSG00000117697 Nsl1 (MGI:2685830) -chr1 212856603 212858137 1q31 1q32.3 610864 LQK1 LQK1 protein FLVCR1-DT 642946 ENSG00000198468 -chr1 212858274 212899362 1q31.3 1q32.3 609144 FLVCR1, AXPC1, PCARP Feline leukemia virus subgroup C receptor 1 FLVCR1 28982 ENSG00000162769 Ataxia, posterior column, with retinitis pigmentosa, 609033 (3), Autosomal recessive Flvcr1 (MGI:2444881) -chr1 212950540 212991584 1q32.3 1q32.3 610471 VASH2 Vasohibin 2 VASH2 79805 ENSG00000143494 Vash2 (MGI:2444826) -chr1 212992181 213015871 1q32.3 1q32.3 619001 ANGEL2, CCR4D Angel homolog 2 ANGEL2 90806 ENSG00000174606 Angel2 (MGI:1196310) -chr1 213051240 213378752 1q32.3 1q32.3 617517 RPS6KC1, RPK118 Ribosomal protein S6 kinase C1 RPS6KC1 26750 ENSG00000136643 Rps6kc1 (MGI:2443419) -chr1 213924748 213926653 1q41 1q32.3 614635 LINC00538, YIYA Long intergenic noncoding RNA 538 LINC00538 100861504 -chr1 213983238 214041509 1q32.2-q32.3 1q32.3 601546 PROX1 Prospero homeo box 1 PROX1 5629 ENSG00000117707 Prox1 (MGI:97772) -chr1 214281158 214337135 1q41 1q32.3 610663 SMYD2 SET and MYND domain-containing protein 2 SMYD2 56950 ENSG00000143499 Smyd2 (MGI:1915889) -chr1 214348699 214551676 1q32 1q32-q41 603155 PTPN14, PEZ, CATLPH Protein tyrosine phosphatase, nonreceptor-type, 14 PTPN14 5784 ENSG00000152104 Choanal atresia and lymphedema, 613611 (3), Autosomal recessive Ptpn14 (MGI:102467) -chr1 214400000 236400000 1q41-q42 610836 AUTS11 Autism, susceptibility to, 11 100188820 associated with rs12740310, rs3737296, and rs12310279 {Autism susceptibility 11}, 610836 (2) -chr1 214400000 236400000 1q41-q42 612530 DEL1q41q42, C1DELq41q42 Chromosome 1q41-q42 deletion syndrome contiguous gene deletion of 1.7Mb Chromosome 1q41-q42 deletion syndrome, 612530 (4), Isolated cases -chr1 214400000 248956422 1q41-q44 615589 OTSC10 Otosclerosis 10 102723100 Otosclerosis 10, 615589 (2), Autosomal dominant -chr1 214400000 223900000 1q41 600332 RMD1 Rippling muscle disease 1 6022 Rippling muscle disease-1, 600332 (2), Autosomal dominant -chr1 214603194 214664570 1q32-q41 1q41 600236 CENPF, CILD31, STROMS Centromere autoantigen F, 400kD CENPF 1063 ENSG00000117724 Stromme syndrome, 243605 (3), Autosomal recessive Cenpf (MGI:1313302) -chr1 215002919 215237092 1q41 1q41 603219 KCNK2, TREK Potassium channel, subfamily K, member 2 KCNK2 3776 ENSG00000082482 Kcnk2 (MGI:109366) -chr1 215567303 215621806 1q41 1q41 613272 KCTD3 Potassium channel tetramerization domain-containing protein 3 KCTD3 51133 ENSG00000136636 Kctd3 (MGI:2444629) -chr1 215622890 216423447 1q41 1q41 608400 USH2A, RP39 Usherin USH2A 7399 ENSG00000042781 Usher syndrome, type 2A, 276901 (3), Autosomal recessive; Retinitis pigmentosa 39, 613809 (3) Ush2a (MGI:1341292) -chr1 216503245 217137701 1q41 1q41 602969 ESRRG Estrogen-related receptor, gamma ESRRG 2104 ENSG00000196482 Esrrg (MGI:1347056) -chr1 217426991 217631089 1q41 1q41 616836 GPATCH2, GPATC2 G-patch domain-containing protein 2 GPATCH2 55105 ENSG00000092978 Gpatch2 (MGI:1915019) -chr1 217631332 217871695 1q41 1q41 611032 SPATA17, MSRG11 Spermatogenesis-associated protein 17 SPATA17 128153 ENSG00000162814 Spata17 (MGI:1921967) -chr1 218285292 218337982 1q41 1q41 611193 RRP15 Ribosomal RNA-processing 15, S. cerevisiae, homolog of RRP15 51018 ENSG00000067533 Rrp15 (MGI:1914473) -chr1 218345335 218444618 1q41 1q41 190220 TGFB2, LDS4 Transforming growth factor, beta-2 TGFB2 7042 ENSG00000092969 Loeys-Dietz syndrome 4, 614816 (3), Autosomal dominant Tgfb2 (MGI:98726) -chr1 219173849 219445120 1q41 1q41 616548 LYPLAL1 Lysophospholipase-like 1 LYPLAL1 127018 ENSG00000143353 Lyplal1 (MGI:2385115) -chr1 219910394 219959097 1q41 1q41 611146 SLC30A10, ZNT10, HMNDYT1 Solute carrier family 30 (zinc transporter), member 10 SLC30A10 55532 ENSG00000196660 Hypermanganesemia with dystonia 1, 613280 (3), Autosomal recessive Slc30a10 (MGI:2685058) -chr1 219968599 220046504 1q41-q42 1q41 138295 EPRS, PARS, HLD15 Glutamyl-prolyl-tRNA synthetase EPRS1 2058 ENSG00000136628 Leukodystrophy, hypomyelinating, 15, 617951 (3), Autosomal recessive Eprs (MGI:97838) -chr1 220057481 220089915 1q41 1q41 604053 BPNT1 3'(2'),5'-bisphosphate nucleotidase 1 BPNT1 10380 ENSG00000162813 Bpnt1 (MGI:1338800) -chr1 220094131 220148040 1q41 1q41 612801 IARS2, CAGSSS Isoleucyl-tRNA synthetase 2 IARS2 55699 ENSG00000067704 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3), Autosomal recessive Iars2 (MGI:1919586) -chr1 220117852 220117961 1q41 1q41 610943 MIR215, MIRN215 Micro RNA 215 MIR215 406997 ENSG00000207590 Mir215 (MGI:2676891) -chr1 220118156 220118240 1q41 1q41 610940 MIR194-1, MIRN194-1 Micro RNA 194-1 MIR194-1 406969 ENSG00000207624 Mir194-1 (MGI:2676858) -chr1 220148292 220272452 1q41 1q41 609275 RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2, MARTS1 RAB3 GTPase-activating protein (noncatalytic) subunit 2 RAB3GAP2 25782 ENSG00000118873 Martsolf syndrome 1, 212720 (3), Autosomal recessive; Warburg micro syndrome 2, 614225 (3), Autosomal recessive Rab3gap2 (MGI:1916043) -chr1 220528135 220664460 1q41 1q41 606511 MARK1, KIAA1477 MAP/microtubule affinity-regulating kinase 1 MARK1 4139 ENSG00000116141 Mark1 (MGI:2664902) -chr1 220747416 220784814 1q41 1q41 614127 MTARC2, MOSC2, MARC2 Mitochondrial amidoxime-reducing component 2 MTARC2 54996 ENSG00000117791 Mtarc2 (MGI:1914497) -chr1 220786696 220819658 1q41 1q41 614126 MTARC1, MOSC1, MARC1 Mitochondrial amidoxime-reducing component 1 MTARC1 64757 ENSG00000186205 Mtarc1 (MGI:1913362) -chr1 220879442 220885058 1q41-q42.1 1q41 142995 HLX1 H.20-like homeobox 1 HLX 3142 ENSG00000136630 Hlx (MGI:96109) -chr1 221701423 221742090 1q41 1q41 608867 DUSP10, MKP5 Dual-specificity phosphatase 10 DUSP10 11221 ENSG00000143507 Dusp10 (MGI:1927070) -chr1 222557901 222590095 1q42 1q41 604903 TAF1A, RAFI48, SL1 TATA box-binding protein-associated factor 1A TAF1A 9015 ENSG00000143498 Taf1a (MGI:109578) -chr1 222618096 222668006 1q42 1q41 613455 MIA3, TANGO1, TANGO, KIAA0268, ODCD2 MIA SH3 domain ER export factor 3 MIA3 375056 ENSG00000154305 mutation identified in 1 ODCD2 family ?Ondontochondrodysplasia 2 with hearing loss and diabetes, 619269 (3), Autosomal recessive Mia3 (MGI:2443183) -chr1 222668012 222712894 1q41 1q41 612375 AIDA Axin interactor, dorsalization-associated AIDA 64853 ENSG00000186063 Aida (MGI:1919737) -chr1 222814513 223005994 1q42 1q41 607502 DISP1, DISPA Dispatched RND transporter family, member 1 DISP1 84976 ENSG00000154309 Disp1 (MGI:1916147) -chr1 223108400 223143280 1q41 1q41 603031 TLR5, TIL3, SLEB1, MELIOS Toll-like receptor-5 TLR5 7100 ENSG00000187554 {Melioidosis, susceptibility to}, 615557 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3); {Systemic lupus erythematosus, resistance to}, 601744 (3); {Legionnaire disease, susceptibility to}, 608556 (3) Tlr5 (MGI:1858171) -chr1 223220825 223365270 1q41 1q41 615827 SUSD4 Sushi domain-containing protein 4 SUSD4 55061 ENSG00000143502 Susd4 (MGI:2138351) -chr1 223541608 223665733 1q41 1q41 618777 CAPN8 Calpain 8 CAPN8 388743 ENSG00000203697 Capn8 (MGI:2181366) -chr1 223701596 223776017 1q41-q42 1q41 114230 CAPN2 Calpain, large polypeptide L2 CAPN2 824 ENSG00000162909 Capn2 (MGI:88264) -chr1 223779892 223845953 1q42.1 1q41 602143 TP53BP2, ASPP2 Tumor protein p53-binding protein-2 TP53BP2 7159 ENSG00000143514 Trp53bp2 (MGI:2138319) -chr1 223900000 230500000 1q42.11-q42.13 180420 RN5S1@ RNA, 5S cluster 1 25-30% at 1q31 (RN5S3@) -chr1 224114110 224162046 1q42.12 1q42.11 609100 FBXO28, FBX28, KIAA0483 F-box protein 28 FBXO28 23219 ENSG00000143756 Fbxo28 (MGI:1261890) -chr1 224183239 224193440 1q42.11 1q42.11 615843 DEGS1, DES1, MLD, HLD18 Delta(4)-desaturase, sphingolipid, 1 DEGS1 8560 ENSG00000143753 Leukodystrophy, hypomyelinating, 18, 618404 (3), Autosomal recessive Degs1,9130409I23Rik (MGI:3588271,MGI:1097711) -chr1 224227344 224330186 1q41-q42.2 1q42.11 602426 NVL Nuclear valosin-containing protein-like NVL 4931 ENSG00000143748 Nvl (MGI:1914709) -chr1 224356878 224379451 1q42.11 1q42.11 617483 CNIH4, CNIH2 Cornichon family AMPA receptor auxiliary protein 4 CNIH4 29097 ENSG00000143771 Cnih4 (MGI:1925828) -chr1 224385145 224434796 1q42.13 1q42.11-q42.12 617424 WDR26, SKDEAS WD repeat-containing protein 26 WDR26 80232 ENSG00000162923 Skraban-Deardorff syndrome, 617616 (3), Autosomal dominant Wdr26 (MGI:1923825) -chr1 224928421 225399291 1q42 1q42.12 603341 DNAH14, HL18 Dynein, axonemal, heavy chain 14 DNAH14 127602 ENSG00000185842 Dnah14 (MGI:2444525) -chr1 225401501 225428820 1q42.1 1q42.12 600024 LBR, PHA, PHASK Lamin B receptor LBR 3930 ENSG00000143815 Pelger-Huet anomaly, 169400 (3), Autosomal dominant; Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3); ?Reynolds syndrome, 613471 (3), Autosomal dominant; Greenberg skeletal dysplasia, 215140 (3), Autosomal recessive Lbr (MGI:2138281) -chr1 225486828 225660045 1q42.13 1q42.12 609061 ENAH, ENA, MENA, NDPP1 Enabled, Drosophila, homolog of ENAH 55740 ENSG00000154380 Enah (MGI:108360) -chr1 225777825 225790463 1q42.12 1q42.12 600707 SRP9, ALURBP Signal recognition particle 9 SRP9 6726 ENSG00000143742 Gm13736,Srp9 (MGI:1350930,MGI:3650137) -chr1 225810123 225845562 1q42.1 1q42.12 132810 EPHX1 Epoxide hydroxylase 1, microsomal xenobiotic EPHX1 2052 ENSG00000143819 Ephx1 (MGI:95405) -chr1 225840555 225882719 1q42.12 1q42.12 618685 TMEM63A, KIAA0792, HLD19 Transmembrane protein 63A TMEM63A 9725 ENSG00000196187 Leukodystrophy, hypomyelinating, 19, transient infantile, 618688 (3), Autosomal dominant Tmem63a (MGI:2384789) -chr1 225886281 225889145 1q42.1 1q42.12 603037 LEFTB, LEFTY1 Left-right determination, factor B LEFTY1 10637 ENSG00000243709 Lefty1,Lefty2 (MGI:107405,MGI:2443573) -chr1 225919877 225924249 1q42.13 1q42.12 616406 PYCR2, HLD10 Pyrroline-5-carboxylate reductase 2 PYCR2 29920 ENSG00000143811 Leukodystrophy, hypomyelinating, 10, 616420 (3), Autosomal recessive Pycr2 (MGI:1277956) -chr1 225936602 225941366 1q42.1 1q42.12 601877 LEFTY2, EBAF, TGFB4, LEFTA, LEFTYA Left-right determination factor 2 LEFTY2 7044 ENSG00000143768 Lefty1,Lefty2 (MGI:107405,MGI:2443573) -chr1 226061830 226072018 1q41 1q42.12 601128 H3F3A, H3F3 H3 histone, family 3A H3-3A 3020 ENSG00000163041 H3f3a (MGI:1097686) -chr1 226144678 226186740 1q42.1 1q42.12 606809 ACBD3, GOCAP1, GOLPH1, GCP60 Acyl-Coenzyme A binding domain containing 3 ACBD3 64746 ENSG00000182827 Acbd3 (MGI:2181074) -chr1 226223663 226227059 1q42.1 1q42.12 609852 MIXL1, MIXL, MIX MIX1 homeobox-like protein 1 MIXL1 83881 ENSG00000185155 Mixl1 (MGI:1351322) -chr1 226231148 226310081 1q42.12 1q42.12 609375 LIN9 Lin9, C. elegans, homolog of LIN9 286826 ENSG00000183814 Lin9 (MGI:1919818) -chr1 226360690 226408092 1q42 1q42.12 173870 PARP1, ADPRT, PPOL, PARP Poly(ADP-ribose) polymerase 1 PARP1 142 ENSG00000143799 ?processed pseudogenes on chr.13 and 14 Parp1 (MGI:1340806) -chr1 226631689 226739295 1q41-q43 1q42.12 147522 ITPKB Inositol 1,4,5-trisphosphate 3-kinase B ITPKB 3707 ENSG00000143772 Itpkb (MGI:109235) -chr1 226870593 226903828 1q31-q42 1q42.13 600759 PSEN2, AD4, STM2, CMD1V Presenilin 2 PSEN2 5664 ENSG00000143801 Alzheimer disease-4, 606889 (3), Autosomal dominant; Cardiomyopathy, dilated, 1V, 613697 (3), Autosomal dominant Psen2 (MGI:109284) -chr1 226939338 226987543 1q42.2 1q42.13 606980 ADCK3, COQ8, CABC1, SCAR9, ARCA2, COQ10D4 AARF domain-containing kinase 3 COQ8A 56997 ENSG00000163050 Coenzyme Q10 deficiency, primary, 4, 612016 (3), Autosomal recessive Coq8a (MGI:1914676) -chr1 226989857 227318501 1q41-q42 1q42.13 603412 CDC42BPA, PK428, MRCKA CDC42-binding protein kinase alpha CDC42BPA 8476 ENSG00000143776 Cdc42bpa (MGI:2441841) -chr1 227918655 227947931 1q42 1q42.13 602863 WNT14 Wingless-type MMTV integration site family, member 14 WNT9A 7483 ENSG00000143816 Wnt9a (MGI:2446084) -chr1 228006997 228067112 1q42 1q42.13 606359 WNT3A Wingless-type MMTV integration site family, member 3A WNT3A 89780 ENSG00000154342 Wnt3a (MGI:98956) -chr1 228082707 228099211 1q42 1q42.13 103180 ARF1, PVNH8 ADP-ribosylation factor-1 ARF1 375 ENSG00000143761 Periventricular nodular heterotopia 8, 618185 (3), Autosomal dominant Arf2,Arf1 (MGI:99595,MGI:99431) -chr1 228106679 228111745 1q42.13 1q42.13 611859 MRPL55 Mitochondrial ribosomal protein L55 MRPL55 128308 ENSG00000162910 Mrpl55 (MGI:1914462) -chr1 228140083 228148954 1q32.1-q42 1q42.13 139270 GUK1 Guanylate kinase-1 GUK1 2987 ENSG00000143774 Guk1 (MGI:95871) -chr1 228149929 228159825 1q42.13 1q42.13 608803 GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPHM3 Gap junction protein, gamma-2 (47kD) GJC2 57165 ENSG00000198835 Lymphatic malformation 3, 613480 (3), Autosomal dominant; Spastic paraplegia 44, autosomal recessive, 613206 (3), Autosomal recessive; Leukodystrophy, hypomyelinating, 2, 608804 (3), Autosomal recessive Gjc2 (MGI:2153060) -chr1 228165803 228182256 1q42.13 1q42.13 615316 IBA57, C1orf69, MMDS3, SPG74 Iron-sulfur cluster assembly factor IBA57 IBA57 200205 ENSG00000181873 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive; ?Spastic paraplegia 74, autosomal recessive, 616451 (3), Autosomal recessive Iba57 (MGI:3041174) -chr1 228393671 228406834 1q42.13 1q42.13 607868 TRIM11 Tripartite motif-containing protein 11 TRIM11 81559 ENSG00000154370 Trim11,Trim65 (MGI:2442815,MGI:2137355) -chr1 228406876 228416881 1q42 1q42.13 606123 RNF16 RING finger protein-16 TRIM17 51127 ENSG00000162931 Trim17 (MGI:1861440) -chr1 228424844 228425359 1q42 1q42.13 602820 HIST3H3, H3FT, H3T Histone 3, H3 H3-4 8290 ENSG00000168148 -chr1 228457363 228457872 1q42 1q42.13 615015 HIST3H2A Histone gene cluster 3, H2A histone H2AW 92815 ENSG00000181218 H2aw (MGI:2448458) -chr1 228458102 228458557 1q42 1q42.13 615046 HIST3H2BB, H2Bb Histone gene cluster 3, H2B histone family, member B H2BU1 128312 ENSG00000196890 H2bu1-ps,H2bu2 (MGI:1925553,MGI:1922442) -chr1 228487381 228496187 1q42.13 1q42.13 613754 RNF186, RACO1 Ring finger protein 187 RNF187 149603 ENSG00000168159 Rnf187 (MGI:1914224) -chr1 228644646 228746668 1q42 1q42.13 606366 RHOU, WRCH1 Ras homolog gene family, member U RHOU 58480 ENSG00000116574 Rhou (MGI:1916831) -chr1 229271110 229305893 1q42-q43 1q42.13 179511 RAB4A, RAB4 Ras-associated protein RAB4A RAB4A 5867 ENSG00000168118 Rab4a (MGI:105069) -chr1 229321014 229343794 1q42.13 1q42.13 616762 CCSAP, CSAP, C1orf96 Centriole-, cilia-, and spindle-associated protein CCSAP 126731 ENSG00000154429 Ccsap (MGI:1920670) -chr1 229431244 229434093 1q42.1 1q42.13 102610 ACTA1, ASMA, NEM3, CFTD1, SHPM Actin, alpha-1, skeletal muscle ACTA1 58 ENSG00000143632 mutation identified in 1 SHPM family ?Myopathy, scapulohumeroperoneal, 616852 (3), Autosomal dominant; Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3), Autosomal dominant, Autosomal recessive; Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3), Autosomal dominant, Autosomal recessive; Myopathy, actin, congenital, with cores, 161800 (3), Autosomal dominant, Autosomal recessive; Myopathy, congenital, with fiber-type disproportion 1, 255310 (3), Autosomal dominant, Autosomal recessive Acta1 (MGI:87902) -chr1 229440258 229508341 1q42.13 1q42.13 607613 NUP133, NPHS18, GAMOS8 Nucleoporin, 133kD NUP133 55746 ENSG00000069248 mutation identified in 1 GAMOS8 family ?Galloway-Mowat syndrome 8, 618349 (3), Autosomal recessive; Nephrotic syndrome, type 18, 618177 (3), Autosomal recessive Nup133 (MGI:2442620) -chr1 229516581 229558987 1q42 1q42.13 605454 ABCB10, MTABC2 ATP-binding cassette, subfamily B, member 10 ABCB10 23456 ENSG00000135776 pseudogene on 15q13-q14 Abcb10 (MGI:1860508) -chr1 229626246 229660199 1q42.13 1q42.13 619372 URB2, KIAA0133 URB2 ribosome biogenesis homolog URB2 9816 ENSG00000135763 Urb2 (MGI:2681124) -chr1 230057788 230282121 1q41-q42 1q42.13 602274 GALNT2, CDG2T UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 GALNT2 2590 ENSG00000143641 Congenital disorder of glycosylation, type IIt, 618885 (3), Autosomal recessive Galnt2 (MGI:894694) -chr1 230314489 230426331 1q42.13 1q42.13 616791 PGBD5 Piggybac transposable element-derived 5 PGBD5 79605 ENSG00000177614 Pgbd5 (MGI:2429955) -chr1 230500000 243500000 1q42.2-q43 602759 PCAP Predisposing for prostate cancer 7834 {Prostate cancer, susceptibility to}, 602759 (2) -chr1 230500000 243500000 1q42.2-q43 119100 SHFL1, SHFLD Split-hand/foot malformation with long bone deficiency 1 791121 between rs1124110 and rs535043 Split-hand/foot malformation with long bone deficiency 1, 119100 (2), Autosomal dominant -chr1 230642480 230693981 1q42.2 1q42.2 606974 COG2, LDLC, CDG2Q Component of oligomeric golgi complex 2 COG2 22796 ENSG00000135775 mutation identified in 1 CDG2Q patient ?Congenital disorder of glycosylation, type IIq, 617395 (3), Autosomal recessive Cog2 (MGI:1923582) -chr1 230702522 230745582 1q42-q43 1q42.2 106150 AGT, SERPINA8 Angiotensinogen AGT 183 ENSG00000135744 Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {Preeclampsia, susceptibility to} (3); {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial Agt (MGI:87963) -chr1 230747288 230803355 1q42 1q42.2 606401 CAPN9 Calpain 9 CAPN9 10753 ENSG00000135773 Capn9 (MGI:1920897) -chr1 230979081 231000732 1q42.2 1q42.2 611647 ARV1, DEE38 ARV1 homolog, fatty acid homeostasis modulator ARV1 64801 ENSG00000173409 Developmental and epileptic encephalopathy 38, 617020 (3), Autosomal recessive Arv1 (MGI:1916115) -chr1 231162057 231221564 1q42 1q42.2 610584 TRIM67 Tripartite motif-containing protein 67 TRIM67 440730 ENSG00000119283 Trim67 (MGI:3045323) -chr1 231241209 231277972 1q42 1q42.2 602744 GNPAT, DHAPAT, RCDP2 Glyceronephosphate O-acyltransferase GNPAT 8443 ENSG00000116906 Rhizomelic chondrodysplasia punctata, type 2, 222765 (3), Autosomal recessive Gnpat (MGI:1343460) -chr1 231332752 231337851 1q42.2 1q42.2 615283 EXOC8, EXO84, SEC84, NEDMISB Exocyst complex component 8 EXOC8 149371 ENSG00000116903 mutation identified in 1 NEDMISB family ?Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy, 619076 (3), Autosomal recessive Exoc8 (MGI:2142527) -chr1 231337979 231355022 1q42.2 1q42.2 616086 SPRTN, DVC1, C1orf124, RJALS SprT-like N-terminal domain protein SPRTN 83932 ENSG00000010072 Ruijs-Aalfs syndrome, 616200 (3), Autosomal recessive Sprtn (MGI:2685351) -chr1 231363755 231422331 1q42-q43 1q42.2 606425 EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3, HALAH egl-9 family hypoxia inducible factor 1 EGLN1 54583 ENSG00000135766 Erythrocytosis, familial, 3, 609820 (3), Autosomal dominant; [Hemoglobin, high altitude adaptation], 609070 (3), Autosomal dominant Egln1 (MGI:1932286) -chr1 231528668 231566523 1q41 1q42.2 602964 TSNAX, TRAX Translin-associated factor X TSNAX 7257 ENSG00000116918 Tsnax (MGI:1855672) -chr1 231626789 232041271 1q42.1 1q42.2 605210 DISC1, SCZD9 Disrupted in schizophrenia 1 DISC1 27185 ENSG00000162946 {Schizophrenia 9, susceptibility to}, 604906 (3) Disc1 (MGI:2447658) -chr1 231814625 231818516 1q42.1 1q42.2 606271 DISC2 Disrupted in schizophrenia 2 DISC2 27184 noncoding antisense RAN Schizophrenia, 181500 (2), Autosomal dominant -chr1 232397964 232630495 1q42.2 1q42.2 611609 SIPA1L2, KIAA1389 SIPA1-like protein 2 SIPA1L2 57568 ENSG00000116991 Sipa1l2 (MGI:2676970) -chr1 232805415 232809928 1q42.2 1q42.2 618551 MAP10, KIAA1383, MTR120 Microtubule-associated protein 10 MAP10 54627 ENSG00000212916 Map10 (MGI:1921643) -chr1 232983434 233295729 1q42.2 1q42.2 617656 PCNX2, KIAA0435 Pecanex 2 PCNX2 80003 ENSG00000135749 Pcnx2 (MGI:2445010) -chr1 233327723 233385147 1q42 1q42.2 614793 MAP3K21, MLK4, KIAA1804 Mitogen-activated protein kinase kinase kinase 21 MAP3K21 84451 ENSG00000143674 Map3k21 (MGI:2385307) -chr1 233614105 233672513 1q42-q43 1q42.2 601745 KCNK1, TWIK1 Potassium channel, subfamily K, member 1 KCNK1 3775 ENSG00000135750 Kcnk1 (MGI:109322) -chr1 234373455 234385079 1q42.2 1q42.2 614772 COA6, C1orf31, MC4DN13 Cytochrome c oxidase assembly factor 6 COA6 388753 ENSG00000168275 Mitochondrial complex IV deficiency, nuclear type 13, 616501 (3), Autosomal recessive Coa6 (MGI:1915142) -chr1 234391312 234479178 1q42.3 1q42.2 605052 TARBP1, TRP185 TAR RNA-binding protein 1 TARBP1 6894 ENSG00000059588 Tarbp1 (MGI:4936930) -chr1 234600000 236400000 1q42 613058 BCC2 Basal cell carcinoma, susceptibility to, 2 100307119 associated with rs801114 {Basal cell carcinoma, susceptibility to, 2}, 613058 (2) -chr1 234600000 236400000 1q42 606554 EA3 Episodic ataxia, type 3 780905 max lod at D1S235 Episodic ataxia, type 3, 606554 (2), Autosomal dominant -chr1 234600000 236400000 1q42 143025 HRES1 HTLV-1 related endogenous sequence HRES1 3272 -chr1 234600000 236400000 1q42 604801 MDC1B Muscular dystrophy, congenital, 1B 53368 Muscular dystrophy, congenital, 1B, 604801 (2), Autosomal recessive -chr1 234600000 236400000 1q42 170000 PEPC Peptidase C PEPC 5183 1q25, 1q32 = conflicting localizations -chr1 234604268 234610177 1q42.3 1q42.3 615332 IRF2BP2, CVID14 Interferon regulatory factor 2-binding protein 2 IRF2BP2 359948 ENSG00000168264 mutation identified in 1 CVID14 family ?Immunodeficiency, common variable, 14, 617765 (3), Autosomal dominant Irf2bp2 (MGI:2443921) -chr1 235109340 235128836 1q42.3 1q42.3 601848 TOMM20, MAS20, KIAA0016 Translocase of outer mitochondrial membrane 20 TOMM20 9804 ENSG00000173726 Tomm20 (MGI:1915202) -chr1 235166894 235328223 1q42.1-q43 1q42.3 609696 ARID4B, SAP180, RBP1L1, RBBP1L1, BRCAA1 AT-rich interactive domain-containing protein 4B ARID4B 51742 ENSG00000054267 Arid4b (MGI:2137512) -chr1 235327215 235344531 1q43 1q42.3 606982 GGPS1, GGPPS1 Geranylgeranyl diphosphate synthase 1 GGPS1 9453 ENSG00000152904 Ggps1 (MGI:1341724) -chr1 235367426 235452442 1q42-q43 1q42.3 604934 TBCE, KCS, KCS1, HRD, PEAMO Tubulin-specific chaperone E TBCE 6905 ENSG00000284770 Kenny-Caffey syndrome, type 1, 244460 (3), Autosomal recessive; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3), Autosomal recessive; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3), Autosomal recessive Tbce (MGI:1917680) -chr1 235440653 235504480 1q42.3 1q42.3 610194 B3GALNT2, MGC39558, MDDGA11 Beta-1,3-N-acetylgalactosaminyltransferase 2 B3GALNT2 148789 ENSG00000162885 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3), Autosomal recessive B3galnt2 (MGI:2145517) -chr1 235547684 235650607 1q42.3 1q42.3 604388 GNG4 Guanine nucleotide-binding protein, gamma 4 GNG4 2786 ENSG00000168243 Gng4 (MGI:102703) -chr1 235661030 235883712 1q42.3 1q42.3 606897 LYST, CHS1 Lysosomal trafficking regulator LYST 1130 ENSG00000143669 Chediak-Higashi syndrome, 214500 (3), Autosomal recessive Lyst (MGI:107448) -chr1 235975829 236065091 1q43 1q42.3 131390 NID Nidogen NID1 4811 ENSG00000116962 Nid1 (MGI:97342) -chr1 236142528 236213534 1q42-q43 1q42.3 604658 TM7SF1 Transmembrane 7 superfamily, member 1 GPR137B 7107 ENSG00000077585 Gpr137b (MGI:1891463) -chr1 236213063 236281982 1q42.3 1q42.3 615437 ERO1LB Endoplasmic reticulum oxidoreduction 1-like beta ERO1B 56605 ENSG00000086619 Ero1b (MGI:1914725) -chr1 236394285 236484929 1q42.2-q43 1q42-q43 606603 EDARADD, ED3, EDA3, ECTD11B, ECTD11A EDAR-associated death domain EDARADD 128178 ENSG00000186197 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3), Autosomal recessive; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3), Autosomal dominant Edaradd (MGI:1931001) -chr1 236400000 248956422 1q43-q44 612433 DFNB45 Deafness, autosomal recessive 45 449483 between D1S547 and D1S2836 Deafness, autosomal recessive 45, 612433 (2), Autosomal recessive -chr1 236518213 236552980 1q42-q43 1q43 606099 LGALS8, PCTA1 Lectin, galactoside-binding, soluble, 8 LGALS8 3964 ENSG00000116977 Lgals8 (MGI:1928481) -chr1 236686498 236764630 1q42-q43 1q43 102573 ACTN2, CMD1AA, CMH23, MYOCOZ, MPD6 Actinin, alpha-2 ACTN2 88 ENSG00000077522 Myopathy, distal, 6, adult onset, 618655 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3), Autosomal dominant; Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3), Autosomal dominant; Myopathy, congenital with structured cores and Z-line abnormalities, 618654 (3), Autosomal dominant Actn2 (MGI:109192) -chr1 236794303 236903980 1q43 1q43 156570 MTR, HMAG 5-methyltetrahydrofolate-homocysteine methyltransferase 1 MTR 4548 ENSG00000116984 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive; Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3), Autosomal recessive Mtr (MGI:894292) -chr1 237042183 237833987 1q42.1-q43 1q43 180902 RYR2, VTSIP, ARVD2, ARVC2, VACRDS Ryanodine receptor-2 (cardiac) RYR2 6262 ENSG00000198626 Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3), Autosomal dominant; Ventricular arrythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, 115000 (3), Autosomal dominant; Arrhythmogenic right ventricular dysplasia 2, 600996 (3), Autosomal dominant Ryr2 (MGI:99685) -chr1 237882403 237890921 1q43 1q43 613514 ZP4, ZPB Zona pellucida glycoprotein 4 ZP4 57829 ENSG00000116996 -chr1 239386564 239915449 1q43 1q43 118494 CHRM3, PBS, EGBRS Cholinergic receptor, muscarinic, 3 CHRM3 1131 ENSG00000133019 Prune belly syndrome, 100100 (3), Autosomal recessive Chrm3 (MGI:88398) -chr1 240091882 240475186 1q43 1q43 606373 FMN2, MRT47 Formin 2 FMN2 56776 ENSG00000155816 Mental retardation, autosomal recessive 47, 616193 (3), Autosomal recessive Fmn2 (MGI:1859252) -chr1 240489572 240612371 1q43 1q43 608832 GREM2, PRDC, STHAG9 Gremlin 2 homolog, cystine knot superfamily GREM2 64388 ENSG00000180875 Tooth agenesis, selective, 9, 617275 (3), Autosomal dominant Grem2 (MGI:1344367) -chr1 240774741 241357229 1q43 1q43 602517 RGS7 Regulator of G protein signaling 7 RGS7 6000 ENSG00000182901 Rgs7 (MGI:1346089) -chr1 241497602 241519754 1q42.1 1q43 136850 FH, HLRCC, MCUL1, FMRD Fumarate hydratase FH 2271 ENSG00000091483 Leiomyomatosis and renal cell cancer, 150800 (3), Autosomal dominant; Fumarase deficiency, 606812 (3), Autosomal recessive Fh1 (MGI:95530) -chr1 241531882 241595641 1q43 1q43 603538 KMO Kynurenine 3-monooxygenase KMO 8564 ENSG00000117009 Kmo (MGI:2138151) -chr1 241593123 241640368 1q43 1q43 606695 OPN3, ECPN Opsin 3 OPN3 23596 ENSG00000054277 Opn3 (MGI:1338022) -chr1 241628850 241640368 1q43 1q43 118825 CHML, REP2 Choroideremia-like CHML 1122 ENSG00000203668 Chml (MGI:101913) -chr1 241847966 241889938 1q42-q43 1q43 606063 EXO1, HEX1 Exonuclease 1, S. cerevisiae, homolog of EXO1 9156 ENSG00000174371 Exo1 (MGI:1349427) -chr1 241957766 241959061 1q43 1q43 615687 BECN2, BECN1L1 Beclin 2 BECN2 441925 ENSG00000196289 Becn2 (MGI:2684950) -chr1 241995193 242001392 1q43 1q43 609605 MAP1LC3C, LC3C Microtubule-associated protein 1, light chain 3, gamma MAP1LC3C 440738 ENSG00000197769 -chr1 243124427 243255795 1q44 1q43 613023 CEP170, KIAA0470 Centrosomal protein, 170kD CEP170 9859 ENSG00000143702 Cep170 (MGI:1918348) -chr1 243255417 243503682 1q43-q44 1q43-q44 613524 SDCCAG8, CCCAP, SLSN7, BBS16 SHH signaling and ciliogenesis regulator SDCCAG8 SDCCAG8 10806 ENSG00000054282 Senior-Loken syndrome 7, 613615 (3), Autosomal recessive; Bardet-Biedl syndrome 16, 615993 (3), Autosomal recessive Sdccag8 (MGI:1924066) -chr1 243488232 243851078 1q44 1q43-q44 611223 AKT3, PKBG, MPPH2 AKT serine/threonine kinase 3 AKT3 10000 ENSG00000117020 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3), Autosomal dominant Akt3 (MGI:1345147) -chr1 244048652 244057475 1q44 1q44 608433 ZBTB18, ZNF238, RP58, MRD22 Zinc finger and BTB domain containing 18 ZBTB18 10472 ENSG00000179456 Mental retardation, autosomal dominant 22, 612337 (3), Autosomal dominant Zbtb18 (MGI:1353609) -chr1 244408493 244452059 1cen-q12 1q44 103060 ADSS Adenylosuccinate synthetase (Ade(-)H-complementing) ADSS2 159 ENSG00000035687 Adss (MGI:87948) -chr1 244452012 244640503 1q44 1q44 617510 CATSPERE, C10orf101 Cation channel, sprem-associated, auxiliary subunit epsilon CATSPERE 257044 ENSG00000179397 Catspere2,Catspere1 (MGI:5589632,MGI:3647531) -chr1 244652759 244709032 1q44 1q44 614638 DESI2, PPPDE1 Desumoylating isopeptidase 2 DESI2 51029 ENSG00000121644 Desi2 (MGI:1926075) -chr1 244835305 244845062 1q44 1q44 614698 COX20, FAM36A, MC4DN11 Cytochrome c oxidase assembly factor COX20 COX20 116228 ENSG00000203667 Mitochondrial complex IV deficiency, nuclear type 11, 619054 (3), Autosomal recessive Cox20 (MGI:1913609) -chr1 244850296 244864542 1q44 1q44 602869 HNRNPU, HNRPU, SAFA, DEE54 Heterogeneous nuclear ribonucleoprotein U HNRNPU 3192 ENSG00000153187 Developmental and epileptic encephalopathy 54, 617391 (3), Autosomal dominant Hnrnpu (MGI:1858195) -chr1 245154984 245709431 1q44 1q44 614026 KIF26B Kinesin family member 26B KIF26B 55083 ENSG00000162849 Kif26b (MGI:2447076) -chr1 245749341 246507278 1q44 1q44 608783 SMYD3 SET and MYND domain-containing protein 3 SMYD3 64754 ENSG00000185420 Smyd3 (MGI:1916976) -chr1 246540560 246566260 1q44 1q44 607055 TFB2M Transcription factor B2, mitochondrial TFB2M 64216 ENSG00000162851 Tfb2m (MGI:107937) -chr1 246566337 246668594 1q44 1q44 613439 CNST Consortin CNST 163882 ENSG00000162852 Cnst (MGI:2445141) -chr1 246839097 246931947 1q44 1q44 610853 AHCTF1, ELYS AT hook containing transcription factor 1 AHCTF1 25909 ENSG00000153207 Ahctf1 (MGI:1915033) -chr1 246945545 247008056 1q44 1q44 616348 ZNF695, SBZF3 Zinc finger protein 695 ZNF695 57116 ENSG00000197472 Zfp457,Zfp595,Zfp738 (MGI:3040706,MGI:3040707,MGI:2664334) -chr1 247121974 247172378 1q44 1q44 194631 ZNF124 Zinc finger protein-124 (HZF-16) ZNF124 7678 ENSG00000196418 -chr1 247297414 247331866 1q44 1q44 613911 ZNF496, NIZP1, ZFP496 Zinc finger protein 496 ZNF496 84838 ENSG00000162714 Zkscan17 (MGI:2679270) -chr1 247416162 247448822 1q44 1q44 606416 NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH NLR family, pyrin domain containing 3 NLRP3 114548 ENSG00000162711 CINCA syndrome, 607115 (3), Autosomal dominant; Familial cold inflammatory syndrome 1, 120100 (3), Autosomal dominant; Keratoendothelitis fugax hereditaria, 148200 (3), Autosomal dominant; Deafness, autosomal dominant 34, with or without inflammation, 617772 (3), Autosomal dominant; Muckle-Wells syndrome, 191900 (3), Autosomal dominant Nlrp3 (MGI:2653833) -chr1 247670811 247679738 1q44 1q44 611677 OR13G1 Olfactory receptor, family 13, subfamily G, member 1 OR13G1 441933 ENSG00000197437 Olfr309 (MGI:3030143) -chr1 247895586 247896530 1q44 1q44 616729 OR2W3 Olfactory receptor family 2 subfamily W member 3 OR2W3 343171 ENSG00000238243 Olfr322,Olfr317 (MGI:3030151,MGI:3030156) -chr1 248323629 248324567 1q44 1q44 618509 OR2M7 Olfactory receptor, family 2, subfamily M, member 7 OR2M7 391196 ENSG00000177186 Olfr165,Olfr164 (MGI:3029998,MGI:3029999) -chr1 248678139 248685487 1q44 1q44 618516 OR14I1 Olfactory receptor, family 14, subfamily I, member 1 OR14I1 401994 ENSG00000189181 -chr1 248739414 248755758 1q44 1q44 617067 LYPD8 LY6/PLAUR domain-containing protein 8 LYPD8 646627 ENSG00000259823 Lypd8 (MGI:1917413) -chr1 248850003 248860760 1q44 1q44 617758 ZNF692, AREBP Zinc finger protein 692 ZNF692 55657 ENSG00000171163 Zfp692 (MGI:2144276) -chr1 0 248956422 Chr.1 108420 SPGF2, ASG Spermatogenic failure 2 100653377 inversion of chromosome 1 Spermatogenic failure 2, 108420 (2), Autosomal dominant -chr2 0 23800000 2pter-p24 115800 CTRCT29 Cataract 29, coralliform 101867602 between D2S297 and D2S2269 Cataract 29, coralliform, 115800 (2), Autosomal dominant -chr2 38813 47076 2p25.3 2p25.3 611395 FAM110C Family with sequence similarity 110, member C FAM110C 642273 ENSG00000184731 Fam110c (MGI:1918813) -chr2 218135 264823 2p25.3 2p25.3 617314 SH3YL1 SH3 domain- and SYLF domain-containing protein 1 SH3YL1 26751 ENSG00000035115 Sh3yl1 (MGI:1346118) -chr2 264946 278282 2p25 2p25.3 171500 ACP1 Acid phosphatase 1, soluble ACP1 52 ENSG00000143727 Acp1 (MGI:87881) -chr2 663876 677405 2p25.3 2p25.3 613220 TMEM18 Transmembrane protein 18 TMEM18 129787 ENSG00000151353 Tmem18 (MGI:2387176) -chr2 950848 1367990 2p25 2p25.3 608715 SNTG2, SYN5 Syntrophin, gamma-2 SNTG2 54221 ENSG00000172554 Sntg2 (MGI:1919541) -chr2 1413287 1543672 2p25 2p25.3 606765 TPO, TPX, TDH2A Thyroid peroxidase TPO 7173 ENSG00000115705 Thyroid dyshormonogenesis 2A, 274500 (3), Autosomal recessive Tpo (MGI:98813) -chr2 1631886 1744851 2p25.3 2p25.3 605158 PXDN, D2S448E, KIAA0230, PRG2, PXN, COPOA, ASGD7 Peroxidasin PXDN 7837 ENSG00000130508 Anterior segment dysgenesis 7, with sclerocornea, 269400 (3), Autosomal recessive Pxdn (MGI:1916925) -chr2 1789112 2331387 2p24 2p25.3 613084 MYT1L, KIAA1106, MRD39 Myelin transcription factor 1-like MYT1L 23040 ENSG00000186487 Mental retardation, autosomal dominant 39, 616521 (3), Autosomal dominant Myt1l (MGI:1100511) -chr2 3188967 3377817 2p25.2 2p25.3 608998 EIPR1, TSSC1 EARP complex and GARP complex interacting protein 1 EIPR1 7260 ENSG00000032389 Eipr1 (MGI:1289332) -chr2 3379244 3479570 2p25.3 2p25.3 614139 TRAPPC12, TTC15, PEBAS Trafficking protein particle complex, subunit 12 TRAPPC12 51112 ENSG00000171853 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3), Autosomal recessive Trappc12 (MGI:2445089) -chr2 3497365 3519530 2p25.3 2p25.3 613400 ADI1, SIPL Acireductone dioxygenase 1 ADI1 55256 ENSG00000182551 Adi1 (MGI:2144929) -chr2 3531812 3558366 2p25 2p25.3 604123 RNASEH1, PEOB2 Ribonuclease H1 RNASEH1 246243 ENSG00000171865 pseudogenes on chr. 17 and chr.1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3), Autosomal recessive Rnaseh1 (MGI:1335073) -chr2 3575259 3580919 2p25 2p25.3 603658 RPS7, DBA8 Ribosomal protein S7 RPS7 6201 ENSG00000171863 Diamond-Blackfan anemia 8, 612563 (3), Autosomal dominant Rps7 (MGI:1333818) -chr2 3595111 3644643 2p25.3 2p25.3 612502 COLEC11, CLK1, 3MC2 Collectin 11 COLEC11 78989 ENSG00000118004 3MC syndrome 2, 265050 (3), Autosomal recessive Colec11 (MGI:1918943) -chr2 5692383 5701384 2p25 2p25.2 600898 SOX11, MRD27, CSS9 SRY-box 11 SOX11 6664 ENSG00000176887 Coffin-Siris syndrome 9, 615866 (3), Autosomal dominant Sox11 (MGI:98359) -chr2 6840416 6866634 2p25.2 2p25.2 611787 CMPK2 Cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial CMPK2 129607 ENSG00000134326 Cmpk2 (MGI:99830) -chr2 6865732 6898238 2p25.2 2p25.2 607810 RSAD2, VIPERIN Radical S-adenosyl methionine domain containing 2 RSAD2 91543 ENSG00000134321 Rsad2 (MGI:1929628) -chr2 6900000 12000000 2p25 612396 ALLC Allantoicase ALLC 55821 ENSG00000151360 nonfunctional in humans -chr2 6900000 16500000 2p25.1-p24.3 609946 DFNB47 Deafness, neurosensory, autosomal recessive 47 449489 max lod at D2S1400 and D2S262 Deafness, neurosensory, autosomal recessive 47, 609946 (2), Autosomal recessive -chr2 6900000 41500000 2p25-p22 602134 ETM2, ETM Tremor, hereditary essential, 2 2112 max lod at D2S272 Essential tremor, hereditary, 2, 602134 (2), Autosomal dominant -chr2 6900000 23800000 2p25-p24 607329 HYT3 Hypertension, essential, susceptibility to, 3 387575 {Hypertension, essential, susceptibility to, 3}, 145500 (2), Multifactorial -chr2 6900000 12000000 2p25 609402 PEE2 Preeclampsia/eclampsia 2 780908 Preeclampsia/eclampsia 2, 609402 (2) -chr2 6900000 83100000 2p25-p12 101850 PPKP3 Keratoderma, palmoplantar, punctate type III max lod at ACP1 and IGKC ?Keratoderma, palmoplantar, punctate type 3, 101850 (2), Autosomal dominant -chr2 6917411 7076885 2p25.2-p25.1 2p25.1 619454 RNF144A, UIP4, KIAA0161 Ring finger protein 144A RNF144A 9781 ENSG00000151692 Rnf144a (MGI:1344401) -chr2 8682055 8684460 2p25 2p25.1 600386 ID2 Inhibitor of DNA binding 2, dominant negative ID2 3398 ENSG00000115738 Id2 (MGI:96397) -chr2 8721080 8837612 2p25.1 2p25.1 615759 KIDINS220, ARMS, SINO Kinase D-interacting substrate, 220kD KIDINS220 57498 ENSG00000134313 Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3), Autosomal dominant Kidins220 (MGI:1924730) -chr2 8852689 9003709 2p25.1 2p25.1 611949 MBOAT2, LPCAT4 Membrane-bound O-acyltransferase domain-containing 2 MBOAT2 129642 ENSG00000143797 Mboat2 (MGI:1914466) -chr2 9206811 9405677 2p24 2p25.1 603817 DDEF2, PAP Development- and differentiation-enhancing factor 2 ASAP2 8853 ENSG00000151693 Asap2 (MGI:2685438) -chr2 9403474 9423568 2p25.2 2p25.1 607153 ITGB1BP1, ICAP1, ICAP1A, ICAP1B Integrin cytoplasmic domain-associated protein 1 beta ITGB1BP1 9270 ENSG00000119185 Itgb1bp1 (MGI:1306802) -chr2 9423653 9473100 2p25.1 2p25.1 606029 CPSF3, CPSF73 Cleavage and polyadenylation specificity factor 3 CPSF3 51692 ENSG00000119203 Cpsf3 (MGI:1859328) -chr2 9488485 9555829 2p25 2p25.1 603639 ADAM17, TACE, NISBD1 ADAM metallopeptidase domain 17 ADAM17 6868 ENSG00000151694 mutation identified in 1 NISBD1 family ?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3), Autosomal recessive Adam17 (MGI:1096335) -chr2 9583966 9630996 2p25.1 2p25.1 609009 TYHAQ Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta isoform YWHAQ 10971 ENSG00000134308 pseudogene on chr.22 Ywhaq,Cdk5rap2 (MGI:2384875,MGI:891963) -chr2 9843441 9934415 2p25 2p25.1 604904 RAF1B, RAFI63, SL1 TATA box-binding protein-associated factor 1B TAF1B 9014 ENSG00000115750 Taf1b (MGI:109577) -chr2 9951692 10002278 2p25.1 2p25.1 609786 GRHL1, LBP32, MGR Grainyhead-like 1 GRHL1 29841 ENSG00000134317 Grhl1 (MGI:2182540) -chr2 10043549 10054835 2p25 2p25.1 603301 KLF11, TIEG2, FKLF1, FKLF, MODY7 Kruppel-like factor 11 KLF11 8462 ENSG00000172059 Maturity-onset diabetes of the young, type VII, 610508 (3) Klf11 (MGI:2653368) -chr2 10056472 10080410 2p25 2p25.1 618713 CYS1 Cystin 1 CYS1 192668 ENSG00000205795 Cys1 (MGI:2177632) -chr2 10122567 10211009 2p25-p24 2p25.1 180390 RRM2 Ribonucleotide reductase, M2 polypeptide RRM2 6241 ENSG00000171848 pseudogenes on 1p, 1q, Xp Rrm2 (MGI:98181) -chr2 10302123 10427616 2p25.1 2p25.1 600207 HPCAL1 Hippocalcin-like 1 HPCAL1 3241 ENSG00000115756 Hpcal1 (MGI:1855689) -chr2 10439967 10448326 2p25 2p25.1 165640 ODC1, BABS Ornithine decarboxylase-1 ODC1 4953 ENSG00000115758 pseudogene ODCP on 7q31-qter Bachmann-Bupp syndrome, 619075 (3), Autosomal dominant Odc1 (MGI:97402) -chr2 10570753 10689974 2p25.1 2p25.1 616197 NOL10, PQBP5 Nucleolar protein 10 NOL10 79954 ENSG00000115761 Nol10 (MGI:2684913) -chr2 10720972 10785109 2p25.1 2p25.1 618070 ATP6V1C2 ATPase, H+ transporting, V1 subunit C2 ATP6V1C2 245973 ENSG00000143882 Atp6v1c2 (MGI:1916025) -chr2 10783390 10837711 2p25-p24 2p25.1 611099 PDIA6, ERP5 Protein disulfide isomerase, family A, member 6 PDIA6 10130 ENSG00000143870 Pdia6 (MGI:1919103) -chr2 10911933 10914224 2p25 2p25.1 603787 KCNF1, KH1 Potassium voltage-gated channel, subfamily F, member 1 KCNF1 3754 ENSG00000162975 Kcnf1 (MGI:2687399) -chr2 11179758 11345436 2p24 2p25.1 604002 ROCK2 RHO-associated coiled-coil-containing protein kinase 2 ROCK2 9475 ENSG00000134318 Rock2 (MGI:107926) -chr2 11444374 11466176 2p25.1 2p25.1 602944 E2F6 E2F transcription factor 6 E2F6 1876 ENSG00000169016 E2f6 (MGI:1354159) -chr2 11481674 11642787 2p25.1 2p25.1 611736 GREB1 GREB1 protein GREB1 9687 ENSG00000196208 Greb1 (MGI:2149712) -chr2 11658118 11670205 2p25.1 2p25.1 605538 NTSR2 Neurotensin receptor 2 NTSR2 23620 ENSG00000169006 Ntsr2 (MGI:108018) -chr2 11677543 11827408 2p21 2p25.1 605518 LPIN1 Lipin 1 LPIN1 23175 ENSG00000134324 related to LSL Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3), Autosomal recessive Lpin1 (MGI:1891340) -chr2 12716935 12742733 2p24.3 2p24.3 609462 TRIB2, TRB2 Tribbles pseudokinase 2 TRIB2 28951 ENSG00000071575 Trib2 (MGI:2145021) -chr2 14632716 14651915 2p24.3 2p24.3 611234 FAM84A, NSE1 Family with sequence similarity 84, member A LRATD1 151354 ENSG00000162981 Lratd1 (MGI:2145011) -chr2 14998066 15561343 2p24-p23 2p24.3 608025 NBAS, NAG, SOPH, ILFS2 Neuroblastoma-amplified sequence NBAS 51594 ENSG00000151779 Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3), Autosomal recessive; Infantile liver failure syndrome 2, 616483 (3), Autosomal recessive Nbas (MGI:1918419) -chr2 15591867 15631100 2p24 2p24.3 601257 DDX1 DEAD-box helicase 1 DDX1 1653 ENSG00000079785 Ddx1 (MGI:2144727) -chr2 15920398 15936017 2p24.3 2p24.3 615968 MYCNUT MYCN upstream transcript, noncoding MYCNUT 103752554 ENSG00000223850 -chr2 15936264 15942432 2p24.1 2p24.3 605374 MYCNOS, NCYM Oncogene NCYM, opposite strand MYCNOS 10408 ENSG00000233718 -chr2 15940549 15947003 2p24.1 2p24.3 164840 MYCN, NMYC, ODED, MODED Oncogene NMYC MYCN 4613 ENSG00000134323 proximal to APOB Feingold syndrome 1, 164280 (3), Autosomal dominant Mycn,Mycs (MGI:97357,MGI:1332242) -chr2 16050426 16085688 2p24.3 2p24.3 616132 GACAT3, LINC01458 Gastric cancer-associated transcript 3, noncoding GACAT3 104797537 ENSG00000236289 -chr2 17539971 17657017 2p24.2 2p24.2 600817 VSNL1, VILIP, HLP3 Visinin-like 1 VSNL1 7447 ENSG00000163032 Vsnl1 (MGI:1349453) -chr2 17663811 17753832 2p24.2 2p24.2 609387 SMC6L1, SMC6 Structural maintenance of chromosomes 6-like 1 SMC6 79677 ENSG00000163029 Smc6 (MGI:1914491) -chr2 17753686 17788945 2p24.2 2p24.2 612449 GEN1 GEN1, Drosophila, homolog of GEN1 348654 ENSG00000178295 Gen1 (MGI:2443149) -chr2 17816459 17817797 2p24.2 2p24.2 612209 MSGN1 Mesogenin 1 MSGN1 343930 ENSG00000151379 Msgn1 (MGI:1860483) -chr2 17877846 17932960 2p24 2p24.2 603888 KCNS3, KV9.3 Potassium voltate-gated channel, delayed-rectifier, subfamily S, member 3 KCNS3 3790 ENSG00000170745 Kcns3 (MGI:1098804) -chr2 18554722 18560652 2p24.2 2p24.2 616796 RDH14, SDR7C4, PAN2 Retinol dehydrogenase 14 RDH14 57665 ENSG00000240857 Rdh14 (MGI:1920402) -chr2 18562870 18589568 2p24.2 2p24.2 610526 NT5C1B, CN1B, AIRP 5'-nucleotidase, cytosolic, Ib NT5C1B 93034 ENSG00000185013 Nt5c1b (MGI:1918131) -chr2 19000000 41500000 2p24-p22 610760 CLQTL2 Cholesterol level quantitative trait locus 2 100188817 max lod at D2S1360 [Cholesterol level QTL 2], 610760 (2) -chr2 19000000 23800000 2p24 609800 GEFSP4 Generalized epilepsy with febrile seizures plus, type 4 100188796 max lod at D2S305 Epilepsy, generalized, with febrile seizures plus, type 4, 609800 (2), Autosomal dominant -chr2 19000000 23800000 2p24 609271 KTCN4 Keratoconus 4 550624 between D2S305 and D2S2373 Keratoconus 4, 609271 (2) -chr2 19351484 19358622 2p24 2p24.1 608891 ODD, OSR1 ODD-skipped, Drosophila, homolog of OSR1 130497 ENSG00000143867 Osr1 (MGI:1344424) -chr2 19910259 19990104 2p24.1 2p24.1 613602 WDR35, NAOFEN, KIAA1336, CED2, SRTD7 WD repeat-containing protein 35 WDR35 57539 ENSG00000118965 Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3), Autosomal recessive; Cranioectodermal dysplasia 2, 613610 (3), Autosomal recessive Wdr35 (MGI:1921932) -chr2 19992051 20012667 2p24-p23 2p24.1 602109 MATN3, EDM5, HOA, OS2, SEMDBCD Matrilin 3 MATN3 4148 ENSG00000132031 {Osteoarthritis susceptibility 2}, 140600 (3), Autosomal dominant; Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, 608728 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 5, 607078 (3), Autosomal dominant Matn3 (MGI:1328350) -chr2 20032649 20051627 2q24.1 2p24.1 618837 LAPTM4A Lysosome-associated protein, transmembrane 4, alpha LAPTM4A 9741 ENSG00000068697 Laptm4a (MGI:108017) -chr2 20200796 20225474 2p24.1 2p24.1 186355 SDC1 Syndecan 1 SDC1 6382 ENSG00000115884 close to NMYC in mouse Sdc1 (MGI:1349162) -chr2 20248690 20352252 2p22-p21 2p24.1 607205 PUM2, KIAA0235 Pumilio, Drosophila, homolog of, 2 PUM2 23369 ENSG00000055917 Pum2 (MGI:1931751) -chr2 20447073 20449439 2p24.1 2p24.1 165370 RHOB, ARHB, ARH6, RHOH6 RAS homolog gene family, member B (oncogene RHO H6) RHOB 388 ENSG00000143878 Rhob (MGI:107949) -chr2 20552933 20651660 2p24.1 2p24.1 609359 HS1BP3, FLJ14249, ETM2 HS1-binding protein 3 HS1BP3 64342 ENSG00000118960 Hs1bp3 (MGI:1913224) -chr2 20667143 20679242 2p24-p23 2p24.1 604651 GDF7 Growth/differentiation factor 7 GDF7 151449 ENSG00000143869 Gdf7 (MGI:95690) -chr2 20682488 20823138 2p24.1 2p24.1 613570 LDAH, C2orf43 Lipid droplet associated hydrolase LDAH 60526 ENSG00000118961 Ldah (MGI:1916082) -chr2 21001428 21044072 2p24 2p24.1 107730 APOB, FLDB, LDLCQ4, FCHL2 Apolipoprotein B (including Ag(x) antigen) APOB 338 ENSG00000084674 1 gene for liver apo-B100 and gut apo-B48; Ag linked Hypercholesterolemia, familial, 2, 144010 (3), Autosomal dominant; Hypobetalipoproteinemia, 615558 (3), Autosomal recessive Apob (MGI:88052) -chr2 23687623 23927122 2p24.1-p23.3 2p24.1-p23.3 615347 ATAD2B, KIAA1240 ATPase family, AAA domain-containing, member 2B ATAD2B 54454 ENSG00000119778 Atad2b (MGI:2444798) -chr2 23800000 36300000 2p23.3-p22.3 609955 GINGF3, HGF3, GGF3 Fibromatosis, gingival, 3 780916 between D2S2221 and D2S1788 Fibromatosis, gingival, 3, 609955 (2) -chr2 24009021 24026774 2p23.3 2p23.3 617845 MFSD2B Major facilitator superfamily domain-containing protein 2B MFSD2B 388931 ENSG00000205639 Mfsd2b (MGI:3583946) -chr2 24029346 24047390 2p23.3 2p23.3 616234 C2orf44, WDCP WD repeat- and coiled-coil-containing protein WDCP 80304 ENSG00000163026 Wdcp (MGI:3040699) -chr2 24033204 24067742 2p23.3 2p23.3 600620 FKBP1B, PKBP1L FK506-binding protein 1B FKBP1B 2281 ENSG00000119782 Fkbp1b (MGI:1336205) -chr2 24067585 24076325 2p25 2p23.3 607835 SF3B6, SAP14, SF3B14, P14 Splicing factor 3B, subunit 6 SF3B6 51639 ENSG00000115128 Sf3b6 (MGI:1913305) -chr2 24077427 24085766 2p23.3 2p23.3 605171 TP53I3, PIG3 Tumor protein p53-inducible protein 3 TP53I3 9540 ENSG00000115129 -chr2 24202863 24360537 2p25 2p23.3 604464 ITSN2, SH3D1B, SWAP, KIAA1256 Intersectin 2 ITSN2 50618 ENSG00000198399 Itsn2 (MGI:1338049) -chr2 24491253 24770701 2p23 2p23.3 602691 NCOA1, SRC1 Nuclear receptor coactivator 1 NCOA1 8648 ENSG00000084676 Ncoa1 (MGI:1276523) -chr2 24789727 24793390 2p23.3 2p23.3 617342 PRTHD1, C2orf79 Peptidyl-tRNA hydrolase domain-containing 1 PTRHD1 391356 ENSG00000184924 Ptrhd1 (MGI:1916959) -chr2 24793338 24822375 2p23.3 2p23.3 611504 CENPO Centromeric protein O CENPO 79172 ENSG00000138092 Cenpo (MGI:1923800) -chr2 24819168 24920236 2p24-p22 2p23.3 600291 ADCY3, BMIQ19 Adenylate cyclase-3 ADCY3 109 ENSG00000138031 {Obesity, susceptibility to, BMIQ19}, 617885 (3), Autosomal recessive Adcy3 (MGI:99675) -chr2 24943635 24972093 2p23.3 2p23.3 613527 DNAJC27, RBJ DNAJ/HSP40 homolog, subfamily, C, member 27 DNAJC27 51277 ENSG00000115137 Dnajc27 (MGI:2443036) -chr2 25042075 25159136 2p23.3 2p23.3 616797 EFR3B, KIAA0953 Efr3, S. cerevisiae, homolog of, B EFR3B 22979 ENSG00000084710 Efr3b (MGI:2444851) -chr2 25160859 25168579 2p23.3 2p23.3 176830 POMC, OBAIRH Proopiomelanocortin (adrenocorticotropin/beta-lipotropin) POMC 5443 ENSG00000115138 {Obesity, early-onset, susceptibility to}, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3), Autosomal recessive Pomc (MGI:97742) -chr2 25227873 25342589 2p23 2p23.3 602769 DNMT3A, TBRS, HESJAS DNA methyltransferase 3A DNMT3A 1788 ENSG00000119772 Tatton-Brown-Rahman syndrome, 615879 (3), Autosomal dominant; Acute myeloid leukemia, somatic, 601626 (3); Heyn-Sproul-Jackson syndrome, 618724 (3), Autosomal dominant Dnmt3a (MGI:1261827) -chr2 25377242 25673576 2p23-p22 2p23.3 602415 DTNB Dystrobrevin, beta DTNB 1838 ENSG00000138101 Dtnb (MGI:1203728) -chr2 25733752 25878486 2p23.3 2p23.3 612991 ASXL2, KIAA1685, SHAPNS ASXL transcriptional regulator 2 ASXL2 55252 ENSG00000143970 Shashi-Pena syndrome, 617190 (3), Autosomal dominant Asxl2 (MGI:1922552) -chr2 25926597 25982739 2p23 2p23.3 602845 KIF3C Kinesin family member 3C KIF3C 3797 ENSG00000084731 Kif3c (MGI:107979) -chr2 26034083 26137453 2p23.3 2p23.3 612672 RAB10 Ras-associated protein RAB10 10890 ENSG00000084733 Rab10 (MGI:105066) -chr2 26173087 26202528 2p23.1 2p23.3 617999 GAREM2 GRB2-associated regulator of MAPK1, subtype 2 GAREM2 150946 ENSG00000157833 Garem2 (MGI:2685290) -chr2 26190634 26244631 2p23 2p23.3 600890 HADHA, MTPA Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/ enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit HADHA 3030 ENSG00000084754 HELLP syndrome, maternal, of pregnancy, 609016 (3), Autosomal recessive; Mitochondrial trifunctional protein deficiency, 609015 (3), Autosomal recessive; LCHAD deficiency, 609016 (3), Autosomal recessive; Fatty liver, acute, of pregnancy, 609016 (3), Autosomal recessive Hadha (MGI:2135593) -chr2 26244916 26290464 2p23 2p23.3 143450 HADHB Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase /enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit HADHB 3032 ENSG00000138029 Trifunctional protein deficiency, 609015 (3), Autosomal recessive Hadhb (MGI:2136381) -chr2 26346142 26395884 2p23.3 2p23.3 607915 SELENOI, SELI, SPG81 Selenoprotein I SELENOI 85465 ENSG00000138018 Spastic paraplegia 81, autosomal recessive, 618768 (3), Autosomal recessive Selenoi (MGI:107898) -chr2 26401919 26456712 2p23.3 2p23.3 615288 DRC1, CCDC164, C2orf39, CILD21 Dynein regulatory complex, subunit 1 DRC1 92749 ENSG00000157856 Ciliary dyskinesia, primary, 21, 615294 (3), Autosomal recessive Drc1 (MGI:2685906) -chr2 26457202 26558755 2p23-p22 2p23.3 603681 OTOF, DFNB9, NSRD9, AUNB1 Otoferlin OTOF 9381 ENSG00000115155 symbolized DFNB6 by authors Auditory neuropathy, autosomal recessive, 1, 601071 (3), Autosomal recessive; Deafness, autosomal recessive 9, 601071 (3), Autosomal recessive Otof (MGI:1891247) -chr2 26581204 26641797 2p23.3 2p23.3 610646 CIB4, KIP4 Calcium- and integrin-binding protein 4 CIB4 130106 ENSG00000157884 Cib4 (MGI:1920509) -chr2 26692721 26733419 2p23 2p23.3 603220 KCNK3, TASK, PPH4 Potassium channel, subfamily K, member 3 KCNK3 3777 ENSG00000171303 Pulmonary hypertension, primary, 4, 615344 (3), Autosomal dominant Kcnk3 (MGI:1100509) -chr2 26786055 26794588 2p24-p21 2p23.3 117139 CENPA Centromere protein A, 17kD CENPA 1058 ENSG00000115163 Cenpa (MGI:88375) -chr2 26847994 26950350 2p23.3 2p23.3 608383 DPYSL5, CRMP5, CRAM, RTSC4 Dihydropyrimidinase-like 5 DPYSL5 56896 ENSG00000157851 Ritscher-Schinzel syndrome 4, 619435 (3), Autosomal dominant Dpysl5 (MGI:1929772) -chr2 26970636 27027218 2p23.3-p23.1 2p23.3 605788 MAPRE3, EB3, RP3, EBF3 Microtubule-associated protein, RP/EB family, member 3 MAPRE3 22924 ENSG00000084764 Mapre3 (MGI:2140967) -chr2 27032964 27041693 2p23.3 2p23.3 615301 TMEM214 Transmembrane protein 214 TMEM214 54867 ENSG00000119777 Tmem214 (MGI:1916046) -chr2 27051422 27070619 2p23.3 2p23.3 615900 AGBL5, CCP5, RP75 AATP/GTP-binding protein-like 5 AGBL5 60509 ENSG00000084693 Retinitis pigmentosa 75, 617023 (3), Autosomal recessive Agbl5 (MGI:2441745) -chr2 27070471 27071653 2p23.3 2p23.3 618932 OST4 Oligosaccharyltransferase complex, noncatalytic subunit 4 OST4 100128731 ENSG00000228474 Ost4 (MGI:1914945) -chr2 27078614 27086402 2p23.3-p23.2 2p23.3 130660 EMILIN1, EMILIN Elastin microfibril interfacer 1 EMILIN1 11117 ENSG00000138080 Emilin1 (MGI:1926189) -chr2 27086759 27100761 2p23.3-p23.2 2p23.3 614058 KHK Ketohexokinase (fructokinase) KHK 3795 ENSG00000138030 [Fructosuria], 229800 (3), Autosomal recessive Khk (MGI:1096353) -chr2 27099352 27119127 2p23.3 2p23.3 606137 CGREF1, CGR11 Cell growth regulator with EF-hand domain 1 CGREF1 10669 ENSG00000138028 Cgref1 (MGI:1915817) -chr2 27123779 27131113 2p23.3 2p23.3 612195 ABHD1, LABH1 Abhydrolase domain-containing 1 ABHD1 84696 ENSG00000143994 Abhd1 (MGI:1931013) -chr2 27130755 27134641 2p23 2p23.3 606395 PREB Prolactin regulatory element-binding protein PREB 10113 ENSG00000138073 Preb (MGI:1355326) -chr2 27148891 27156973 2p24-p23 2p23.3 609635 TCF23 Transcription factor 23 TCF23 150921 ENSG00000163792 Tcf23 (MGI:1934960) -chr2 27199586 27212341 2p23.3 2p23.3 604024 SLC5A6, SMVT, NERIB Solute carrier family 5 (sodium dependent vitamin transporter), member 6 SLC5A6 8884 ENSG00000138074 Neurodegeneration, infantile-onset, biotin-responsive, 618973 (3), Autosomal recessive Slc5a6 (MGI:2660847) -chr2 27217368 27243942 2p21 2p23.3 114010 CAD, CDG1Z, DEE50 CAD trifunctional protein of pyrimidine biosynthesis CAD 790 ENSG00000084774 Developmental and epileptic encephalopathy 50, 616457 (3), Autosomal recessive Cad (MGI:1916969) -chr2 27253683 27275862 2p23.3 2p23.3 602878 SLC30A3, ZNT3 Solute carrier family 30 (zinc transporter), member 3 SLC30A3 7781 ENSG00000115194 Slc30a3 (MGI:1345280) -chr2 27275426 27281498 2p23.3 2p23.3 613946 DNAJC5G DNAJ/HSP40 homolog, subfamily C, member 5, gamma DNAJC5G 285126 ENSG00000163793 Dnajc5g (MGI:3045263) -chr2 27282428 27307438 2p23.3 2p23.3 606474 TRIM54, RNF30, MURF3 Tripartite motif containing 54 TRIM54 57159 ENSG00000138100 Trim54 (MGI:1889623) -chr2 27307399 27308444 2p23-p21 2p23.3 600945 UCN, UROC Urocortin UCN 7349 ENSG00000163794 Ucn (MGI:1276123) -chr2 27309491 27323096 2p23-p21 2p23.3 137960 MPV17, MTDPS6, CMT2EE Mitochondrial inner membrane protein MPV17 MPV17 4358 ENSG00000115204 Charcot-Marie-Tooth disease, axonal, type 2EE, 618400 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3), Autosomal recessive Mpv17 (MGI:97138) -chr2 27325853 27356763 2p23.3 2p23.3 604883 GTF3C2 General transcription factor 3C, polypeptide 2 GTF3C2 2976 ENSG00000115207 Gtf3c2 (MGI:1919002) -chr2 27364351 27370340 2p23.3 2p23.3 606687 EIF2B4 Eukaryotic translation initiation factor 2B, subunit 4 EIF2B4 8890 ENSG00000115211 Ovarioleukodystrophy, 603896 (3), Autosomal recessive; Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive Eif2b4 (MGI:95300) -chr2 27370615 27377534 2p23.3 2p23.3 605963 SNX17 Sorting nexin 17 SNX17 9784 ENSG00000115234 Snx17 (MGI:2387801) -chr2 27377230 27380865 2p24.1-p22.3 2p23.3 613598 ZNF513, RP58 Zinc finger protein 513 ZNF513 130557 ENSG00000163795 mutation identified in 1 RP58 family ?Retinitis pigmentosa 58, 613617 (3), Autosomal recessive Zfp513 (MGI:2141255) -chr2 27381198 27409590 2p23.3 2p23.3 605119 PPM1G, PP2CG Protein phosphatase, magnesium/manganese-dependent, 1G PPM1G 5496 ENSG00000115241 Ppm1g (MGI:106065) -chr2 27427789 27442258 2p23 2p23.3 606010 NRBP Nuclear receptor-binding protein NRBP1 29959 ENSG00000115216 Nrbp1 (MGI:2183436) -chr2 27442380 27446480 2p23.3 2p23.3 619261 KRTCAP3, KCP3 Keratinocyte-associated protein 3 KRTCAP3 200634 ENSG00000157992 Krtcap3 (MGI:1917065) -chr2 27444372 27489818 2p23.3 2p23.3 607386 IFT172, SLB, KIAA1179, SRTD10, RP71, BBS20 Intraflagellar transport 172 IFT172 26160 ENSG00000138002 Retinitis pigmentosa 71, 616394 (3), Autosomal recessive; Bardet-Biedl syndrome 20, 619471 (3), Autosomal recessive; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3), Autosomal recessive Ift172 (MGI:2682064) -chr2 27491882 27495501 2p23.3 2p23.3 611905 FNDC4, FRCP1 Fibronectin type III domain-containing protein 4 FNDC4 64838 ENSG00000115226 Fndc4 (MGI:1917195) -chr2 27496838 27523688 2p23.3-p23.2 2p23.3 600842 GCKR, GKRP, FGQTL5 Glucokinase (hexokinase 4) regulatory protein GCKR 2646 ENSG00000084734 [Fasting plasma glucose level QTL 5], 613463 (3) Gckr (MGI:1096345) -chr2 27628246 27651510 2p23.3 2p23.3 611479 XAB1, MBDIN XPA-binding protein GPN1 11321 ENSG00000198522 Gpn1 (MGI:1921504) -chr2 27642567 27663823 2p25 2p23.3 612762 SUPT7L, SUPT7H, SPT7l, KIAA0764, STAF65G SPTY7-like, STAGA complex subunit gamma SUPT7L 9913 ENSG00000119760 Supt7l (MGI:1919445) -chr2 27663470 27694979 2p23.3-p23.2 2p23.3 602655 SLC4A1AP Solute carrier family 4 (anion exchanger), member 1, adaptor protein SLC4A1AP 22950 ENSG00000163798 Slc4a1ap (MGI:1196608) -chr2 27771718 27779732 2p22 2p23.2 610059 MRPL33 Mitochondrial ribosomal protein L33 MRPL33 9553 ENSG00000243147 Mrpl33 (MGI:2137225) -chr2 27781378 27890386 2p23.2 2p23.2 611132 RBKS Ribokinase RBKS 64080 ENSG00000171174 Rbks (MGI:1918586) -chr2 27888708 28338900 2p23.2 2p23.2 610497 BRE, BRCC4, BRCC45 Brain and reproductive organ-expressed protein BABAM2 9577 ENSG00000158019 Babam2 (MGI:1333875) -chr2 28392854 28417316 2p23.2 2p23.2 601575 FOSL2 FOS-like 2, AP-1 transcription factor subunit FOSL2 2355 ENSG00000075426 Fosl2 (MGI:102858) -chr2 28488577 28644141 2p23.2 2p23.2 610179 PLB1, PLB, FLJ30866 Phospholipase B1 PLB1 151056 ENSG00000163803 Plb1 (MGI:1922406) -chr2 28751603 28802939 2p23 2p23.2 600590 PPP1CB, NSLH2 Protein phosphatase-1, catalytic subunit, beta isoform PPP1CB 5500 ENSG00000213639 Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3), Autosomal dominant Ppp1cb (MGI:104871) -chr2 28810833 28850609 2p23.2 2p23.2 614029 SPDYA, SPY1, RINGOA Speedy, xenopus, homolog of, A SPDYA 245711 ENSG00000163806 Spdya (MGI:1918141) -chr2 28849820 28870359 2p23.2 2p23.2 619404 TRMT61B tRNA methyltransferase 61B TRMT61B 55006 ENSG00000171103 -chr2 28894666 28948218 2p23.2 2p23.2 616195 WDR43, UTP5, KIAA0007 WD repeat-containing protein 43 WDR43 23160 ENSG00000163811 Wdr43 (MGI:1919765) -chr2 29061694 29074522 2p23.2 2p23.2 613425 PCARE, C2orf71, RP54 Photoreceptor cilium actin regulator PCARE 388939 ENSG00000179270 Retinitis pigmentosa 54, 613428 (3) Pcare (MGI:2385061) -chr2 29190991 29921588 2p23 2p23.2-p23.1 105590 ALK, NBLST3 Anaplastic lymphoma kinase (Ki-1) ALK 238 ENSG00000171094 {Neuroblastoma, susceptibility to, 3}, 613014 (3) Alk (MGI:103305) -chr2 30146567 30160532 2p23.1 2p23.1 609726 YPEL5 Yippee-like 5 YPEL5 51646 ENSG00000119801 Ypel5 (MGI:1916937) -chr2 30231533 30260027 2p23.1 2p23.1 611763 LBH Limb bud and heart development, mouse, homolog of LBH 81606 ENSG00000213626 Lbh (MGI:1925139) -chr2 30447240 30644224 2p23.1 2p23.1 614241 LCLAT1, ALCAT1, AGPAT8 Lysocardiolipin acyltransferase 1 LCLAT1 253558 ENSG00000172954 Lclat1 (MGI:2684937) -chr2 30722770 30809526 2p23.1 2p23.1 610228 CAPN13, FLJ23523 Calpain 13 CAPN13 92291 ENSG00000162949 Capn13 (MGI:2685789) -chr2 30888517 31138439 2p23.2 2p23.1 608225 GALNT14 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 GALNT14 79623 ENSG00000158089 Galnt14 (MGI:1918935) -chr2 31173055 31233969 2p23.1 2p23.1 610229 CAPN14 Calpain 14 CAPN14 440854 ENSG00000214711 -chr2 31234151 31269450 2p21 2p23.1 605891 EHD3 EH domain-containing 3 EHD3 30845 ENSG00000013016 Ehd3 (MGI:1928900) -chr2 31334319 31414776 2p23-p22 2p23.1 607633 XDH, XAN1 Xanthine dehydrogenase (xanthine oxidase) XDH 7498 ENSG00000158125 Xanthinuria, type I, 278300 (3), Autosomal recessive Xdh (MGI:98973) -chr2 31522479 31665650 2p23 2p23.1 607306 SRD5A2 Steroid-5-alpha-reductase, alpha polypeptide-2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha-2) SRD5A2 6716 ENSG00000277893 Pseudovaginal perineoscrotal hypospadias, 264600 (3), Autosomal recessive Srd5a2 (MGI:2150380) -chr2 31800000 47500000 2p22.3-p21 114580 CANDF1, CMCT Candidiasis, familial, 1 117084 between D2S367 and D2S2240 Candidiasis, familial, 1, autosomal dominant, 114580 (2), Autosomal dominant -chr2 31867187 32011007 2p22-p21 2p22.3 611786 MEMO1, MEMO, C2orf4 Mediator of cell motility 1 MEMO1 51072 ENSG00000162959 Memo1 (MGI:1924140) -chr2 32011648 32039839 2p22.3 2p22.3 612032 DPY30 DPY30, C. elegans, homolog of DPY30 84661 ENSG00000162961 Dpy30 (MGI:1913560) -chr2 32063550 32157636 2p22-p21 2p22.3 604277 SPAST, SPG4 Spastin SPAST 6683 ENSG00000021574 Spastic paraplegia 4, autosomal dominant, 182601 (3), Autosomal dominant Spast (MGI:1858896) -chr2 32165849 32224378 2p22-p21 2p22.3 611148 SLC30A6, ZNT6 Solute carrier family 30 (zinc transporter), member 6 SLC30A6 55676 ENSG00000152683 Slc30a6 (MGI:2386741) -chr2 32224448 32265742 2p22.3 2p22.3 606831 NLRC4, CARD12, CLAN, IPAF, AIFEC, FCAS4 NLR family, caspase recruitment domain-containing 4 NLRC4 58484 ENSG00000091106 mutation identified in 1 FCAS4 family ?Familial cold autoinflammatory syndrome 4, 616115 (3), Autosomal dominant; Autoinflammation with infantile enterocolitis, 616050 (3), Autosomal dominant Nlrc4 (MGI:3036243) -chr2 32277903 32316593 2p22.3 2p22.3 617534 YIPF4 Yip1 domain family, member 4 YIPF4 84272 ENSG00000119820 Yipf4 (MGI:1915114) -chr2 32356906 32618881 2p22-p21 2p22.3 605638 BIRC6, KIAA1289 Baculoviral IAP repeat-containing protein-6 BIRC6 57448 ENSG00000115760 Birc6 (MGI:1276108) -chr2 32532152 32532245 2p22.3 2p22.3 616473 MIR558 Micro RNA 558 MIR558 693143 ENSG00000207653 BIRC6 is host gene -chr2 32902128 33399508 2p12-q22 2p22.3 150390 LTBP1, ARCL2E Latent transforming growth factor beta binding protein 1 LTBP1 4052 ENSG00000049323 Cutis laxa, autosomal recessive, type IIE, 619451 (3), Autosomal recessive Ltbp1 (MGI:109151) -chr2 33436347 33564730 2p22.3 2p22.3 609531 RASGRP3, KIAA0846 Ras guanyl nucleotide-releasing protein 3 RASGRP3 25780 ENSG00000152689 Rasgrp3 (MGI:3028579) -chr2 36300000 38300000 2p22.2 602499 MACOM Macrophthalmia, colobomatous, with microcornea Macrophthalmia, colobomatous, with microcornea, 602499 (4), Autosomal dominant -chr2 36355777 36551134 2p22-p21 2p22.2 606189 CRIM1 Cysteine-rich motor neuron protein 1 CRIM1 51232 ENSG00000150938 Crim1 (MGI:1354756) -chr2 36552238 36598189 2p22.2 2p22.2 604826 FEZ2 Fasciculation and elongation protein zeta 2 FEZ2 9637 ENSG00000171055 Fez2 (MGI:2675856) -chr2 36696706 36814793 2p22.2 2p22.2 617693 VIT, VIT1 Vitrin VIT 5212 ENSG00000205221 Vit (MGI:1921449) -chr2 36837697 36966606 2p22 2p22.2 614765 STRN Striatin, calmodulin-binding protein STRN 6801 ENSG00000115808 Strn (MGI:1333757) -chr2 37099209 37157064 2p21 2p22.2 176871 EIF2AK2, PRKR, LEUDEN Eurkaryotic translation initiation factor 2-alpha kinase 2 EIF2AK2 5610 ENSG00000055332 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 (3), Autosomal dominant Eif2ak2 (MGI:1353449) -chr2 37167819 37196086 2p22.3 2p22.2 617152 SULT6B1 Sulfotransferase family 6B, member 1 SULT6B1 391365 ENSG00000138068 Sult6b1 (MGI:1920921) -chr2 37201611 37231595 2p22.2 2p22.2 612828 CEBPZ, CBF, NOC1 CCAAT/enhancer-binding protein, zeta CEBPZ 10153 ENSG00000115816 Cebpz (MGI:109386) -chr2 37231657 37271364 2p22.2 2p22.2 615898 NDUFAF7, MIDA NADH-ubiquinone oxidoreductase complex assembly factor 7 NDUFAF7 55471 ENSG00000003509 Ndufaf7 (MGI:1920944) -chr2 37250501 37324832 2p21 2p22.2 607077 PRKCN Protein kinase C, nu PRKD3 23683 ENSG00000115825 Prkd3 (MGI:1922542) -chr2 37344629 37373321 2p22.2 2p22.2 607065 QPCT, QC Glutaminyl-peptide cyclotransferase QPCT 25797 ENSG00000115828 Qpct (MGI:1917786) -chr2 37641943 37672948 2p21 2p22.2 606133 CDC42EP3, CEP3, BORG2 CDC42 effector protein 3 CDC42EP3 10602 ENSG00000163171 Cdc42ep3 (MGI:2384718) -chr2 37920788 38069245 2p22.2 2p22.2 611872 FAM82A1, FAM82A, RMD2 Family with sequence similarity 82, member A1 RMDN2 151393 ENSG00000115841 Rmdn2 (MGI:2147043) -chr2 38067508 38076150 2p22-p21 2p22.2 601771 CYP1B1, GLC3A, ASGD6 Cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 CYP1B1 1545 ENSG00000138061 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3), Autosomal recessive; Anterior segment dysgenesis 6, multiple subtypes, 617315 (3), Autosomal recessive Cyp1b1 (MGI:88590) -chr2 38293953 38378583 2p22.3 2p22.2-p22.1 609368 ATL2, ARL3IP2 Atlastin GTPase 2 ATL2 64225 ENSG00000119787 Atl2 (MGI:1929492) -chr2 38300000 47500000 2p22.1-p21 614227 HNFJ3 Hyperuricemic nephropathy, familial juvenile, 3 100689490 between rs372139 and rs896986 Hyperuricemic nephropathy, familial juvenile, 3, 614227 (2), Autosomal dominant -chr2 38561968 38603034 2p22 2p22.1 611208 HNRNPLL, HNRPLL, SRRF Heterogeneous nuclear ribonucleoprotein L-like HNRNPLL 92906 ENSG00000143889 Hnrnpll (MGI:1919942) -chr2 38665921 38734764 2p22-p11 2p22.1 137030 GALM, GLAT, GALAC4 Galactose mutarotase GALM 130589 ENSG00000143891 Galactosemia IV, 618881 (3), Autosomal recessive Galm (MGI:2442420) -chr2 38743598 38751493 2p22-p21 2p22.1 600572 SRSF7, SFRS7 Splicing factor, arginine/serine-rich 7, 35kD SRSF7 6432 ENSG00000115875 Srsf7 (MGI:1926232) -chr2 38778209 38785001 2p22.1 2p22.1 607006 GEMIN6 GEM-associated protein 6 GEMIN6 79833 ENSG00000152147 Gemin6 (MGI:1914492) -chr2 38981548 39124867 2p22-p21 2p22.1 182530 SOS1, GINGF, GF1, HGF, NS4 SOS Ras/Rac guanine nucleotide exchange factor 1 SOS1 6654 ENSG00000115904 mutation identified in 1 GINGF1 family Noonan syndrome 4, 610733 (3), Autosomal dominant; ?Fibromatosis, gingival, 1, 135300 (3), Autosomal dominant Sos1 (MGI:98354) -chr2 39248940 39437311 2p22.1 2p22.1 604921 MAP4K3, GLK Mitogen-activated protein kinase kinase kinase kinase 3 MAP4K3 8491 ENSG00000011566 Map4k3 (MGI:2154405) -chr2 39736059 39779275 2p22-p21 2p22.1 611751 THUMPD2, C2orf8 THUMP domain-containing 2 THUMPD2 80745 ENSG00000138050 Thumpd2 (MGI:1919417) -chr2 40097269 40512434 2p23-p22 2p22.1 182305 SLC8A1, NCX1 Solute carrier family 8, member 1 (sodium-calcium exchanger-1) SLC8A1 6546 ENSG00000183023 Slc8a1 (MGI:107956) -chr2 41500000 47500000 2p21 606407 DEL2p21, C2DELp21 Homozygous 2p21 deletion syndrome contiguous gene syndrome disrupting SLC3A1 and PREPL genes Hypotonia-cystinuria syndrome, 606407 (4), Autosomal recessive -chr2 41500000 83100000 2p21-p12 615654 DFNA58 Deafness, autosomal dominant 58 100359395 between D2S2259 and D2S2114 Deafness, autosomal dominant 58, 615654 (2), Autosomal dominant -chr2 41500000 47500000 2p21 601694 LEPQTL1, LSL Leptin serum levels quantitative trait locus 1 7839 [Leptin serum levels QTL1], 601694 (2) -chr2 41500000 74800000 2p21-p13 608703 SCA25 Spinocerebellar ataxia 25 338435 Spinocerebellar ataxia 25, 608703 (2), Autosomal dominant -chr2 42048020 42058516 2p21 2p21 614150 PKDCC, VLK, SGK493, RLSDF Protein kinase domain-containing, cytoplasmic PKDCC 91461 ENSG00000162878 Rhizomelic limb shortening with dysmorphic features, 618821 (3), Autosomal recessive Pkdcc (MGI:2147077) -chr2 42169352 42332547 2p22-p21 2p21 607442 EML4, ROPP120 Echinoderm microtubule associated protein like-4 EML4 27436 ENSG00000143924 Eml4 (MGI:1926048) -chr2 42335558 42368956 2p21 2p21 605771 COX7A2L, COX7RP, EB1 Cytochrome c oxidase subunit VIIA, polypeptide 2-like COX7A2L 9167 ENSG00000115944 Cox7a2l (MGI:106015) -chr2 42442016 42493981 2p21 2p21 606767 KCNG3, KV6.3 Potassium voltage-gated channel, subfamily G, member 3 KCNG3 170850 ENSG00000171126 Kcng3 (MGI:2663923) -chr2 42767086 42801001 2p21 2p21 604521 HAAO, VCRL1 3-hydroxyanthranilate 3,4-dioxygenase HAAO 23498 ENSG00000162882 Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3), Autosomal recessive Haao (MGI:1349444) -chr2 43222401 43226605 2p21 2p21 612053 ZFP36L2, ERF2, TIS11D Zinc finger protein 36-like 2 ZFP36L2 678 ENSG00000152518 incorrectly mapped to 6p21.3 Zfp36l2 (MGI:107945) -chr2 43230850 43596045 2p21 2p21 611800 THADA, KIAA1767 THADA armadillo repeat containing THADA 63892 ENSG00000115970 Thada (MGI:3039623) -chr2 43637259 43767986 2p21 2p21 612723 PLEKHH2 Pleckstrin homology domain-containing protein, family H, member 2 PLEKHH2 130271 ENSG00000152527 Plekhh2 (MGI:2146813) -chr2 43774038 43828346 2p25.1-p24.1 2p21 617083 DYNC2LI1, D2LIC, LIC3, SRTD15 Dynein, cytoplasmic 2, light intermediate chain 1 DYNC2LI1 51626 ENSG00000138036 Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive Dync2li1 (MGI:1913996) -chr2 43806153 43838839 2p21 2p21 605459 ABCG5, STSL2 ATP-binding cassette, subfamily G, member 5 ABCG5 64240 ENSG00000138075 Sitosterolemia 2, 618666 (3), Autosomal recessive Abcg5 (MGI:1351659) -chr2 43831941 43882987 2p21 2p21 605460 ABCG8, GBD4, STSL1 ATP-binding cassette, subfamily G, member 8 ABCG8 64241 ENSG00000143921 Sitosterolemia 1, 210250 (3), Autosomal recessive; {Gallbladder disease 4}, 611465 (3) Abcg8 (MGI:1914720) -chr2 43886223 43995988 2p21 2p21 607544 LRPPRC, LRP130, LSFC, MC4DN5 Leucine-rich PPR motif-containing protein LRPPRC 10128 ENSG00000138095 Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), 220111 (3), Autosomal recessive Lrpprc (MGI:1919666) -chr2 44168852 44247329 2p21 2p21 603770 PPM1B Protein phosphatase, magnesium-dependent, 1, beta isoform PPM1B 5495 ENSG00000138032 formerly PP2CB Ppm1b (MGI:101841) -chr2 44275463 44321493 2p16.3 2p21 104614 SLC3A1, ATR1, D2H, NBAT Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1 SLC3A1 6519 ENSG00000138079 Cystinuria, 220100 (3), Autosomal dominant, Autosomal recessive Slc3a1 (MGI:1195264) -chr2 44317606 44361861 2p21 2p21 609557 PREPL, KIAA0436, CMS22 Prolyl endopeptidase-like PREPL 9581 ENSG00000138078 Myasthenic syndrome, congenital, 22, 616224 (3), Autosomal recessive Prepl (MGI:2441932) -chr2 44361713 44772591 2p21 2p21 609559 CAMKMT, C2orf34 Calmodulin lysine N-methyltransferase CAMKMT 79823 ENSG00000143919 Camkmt (MGI:1920832) -chr2 44941701 44946070 2p21 2p21 603714 SIX3, HPE2 SIX homeobox 3 SIX3 6496 ENSG00000138083 Schizencephaly, 269160 (3); Holoprosencephaly 2, 157170 (3), Autosomal dominant Six3 (MGI:102764) -chr2 45005181 45009644 2p16-p15 2p21 604994 SIX2 SIX homeobox 2 SIX2 10736 ENSG00000170577 Six2 (MGI:102778) -chr2 45651314 46187989 2p21 2p21 176975 PRKCE, PKCE Protein kinase C, epsilon PRKCE 5581 ENSG00000171132 Prkce (MGI:97599) -chr2 46297406 46386696 2p21-p16 2p21 603349 EPAS1, MOP2, HIF2A, ECYT4 Endothelial PAS domain protein 1 EPAS1 2034 ENSG00000116016 Erythrocytosis, familial, 4, 611783 (3), Autosomal dominant Epas1 (MGI:109169) -chr2 46511846 46542576 2p21 2p21 617385 ATP6V1E2, ATP6E1 ATPase, H+ transporting, V1 subunit E1 ATP6V1E2 90423 ENSG00000250565 Atp6v1e2 (MGI:1922165) -chr2 46542408 46584687 2p21 2p21 605857 RHOQ, ARHQ, TC10 Ras-homolog gene family, member Q RHOQ 23433 ENSG00000119729 Rhoq (MGI:1931553) -chr2 46580936 46617056 2p21-p16 2p21 600153 PIGF, OORS Phosphatidylinositol glycan, class F PIGF 5281 ENSG00000151665 pseudogene on 5 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, 619356 (3), Autosomal recessive Pigf (MGI:99462) -chr2 46617214 46630175 2p21 2p21 604594 CRIPT, SSMDF Cystine-rich PDZ binding protein CRIPT 9419 ENSG00000119878 Short stature with microcephaly and distinctive facies, 615789 (3), Autosomal recessive Cript (MGI:1929655) -chr2 46698936 46763128 2p21 2p21 607094 SOCS5, CIS6, KIAA0671 Suppressor of cytokine signaling 5 SOCS5 9655 ENSG00000171150 also signals at 3p22 Socs5 (MGI:2385459) -chr2 46901869 46941854 2p21-p16.3 2p21 607788 MCFD2, F5F8D2 Multiple coagulation factor deficiency protein 2 MCFD2 90411 ENSG00000180398 Factor V and factor VIII, combined deficiency of, 613625 (3) Mcfd2 (MGI:2183439) -chr2 46915865 47076122 2p21 2p21 609332 TTC7A, TTC7, KIAA1140, MINAT, GIDID Tetratricopeptide repeat domain 7A TTC7A 57217 ENSG00000068724 Gastrointestinal defects and immunodeficiency syndrome, 243150 (3), Autosomal recessive Ttc7 (MGI:1920999) -chr2 47160081 47176935 2p21 2p21 114182 CALM2, LQT15 Calmodulin-2 CALM2 805 ENSG00000143933 Long QT syndrome 15, 616249 (3), Autosomal dominant Calm3,Calm2,Calm1 (MGI:103249,MGI:88251,MGI:103250) -chr2 47335314 47335513 2p21 2p21 606089 BCYRN1, BC200 Brain cytoplasmic RNA 1 BCYRN1 618 ENSG00000236824 -chr2 47369310 47387019 2p21 2p21 185535 EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8 Epithelial cellular adhesion molecule EPCAM 4072 ENSG00000119888 previously assigned to 4q Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3); Diarrhea 5, with tufting enteropathy, congenital, 613217 (3), Autosomal recessive Epcam (MGI:106653) -chr2 47403066 47634500 2p22-p21 2p-p 609309 MSH2, COCA1, FCC1, HNPCC1, MMRCS2 mutS homolog 2 MSH2 4436 ENSG00000095002 Muir-Torre syndrome, 158320 (3), Autosomal dominant; Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3), Autosomal dominant; Mismatch repair cancer syndrome 2, 619096 (3), Autosomal recessive Msh2 (MGI:101816) -chr2 47509289 47570984 2p22-p21 2p16.3 607366 KCNK12, THIK2 Potassium channel, subfamily K, member 12 KCNK12 56660 ENSG00000184261 Kcnk12 (MGI:2684043) -chr2 47783144 47806953 2p16 2p16.3 600678 MSH6, GTBP, HNPCC5, MMRCS3 mutS homolog 6 MSH6 2956 ENSG00000116062 0.5 Mb from MSH2 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3), Autosomal dominant; Mismatch repair cancer syndrome 3, 619097 (3), Autosomal recessive; {Endometrial cancer, familial}, 608089 (3), Somatic mutation, Autosomal dominant Msh6 (MGI:1343961) -chr2 47806919 47906497 2p21 2p16.3 607871 FBXO11, FBX11, VIT1, PRMT9, IDDFBA F-box only protein 11 FBXO11 80204 ENSG00000138081 ?2p16 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 (3), Autosomal dominant Fbxo11 (MGI:2147134) -chr2 48314298 48379294 2p22-p16 2p16.3 143089 HTLF Human T-cell leukemia virus enhancer factor FOXN2 3344 ENSG00000170802 Foxn2 (MGI:1347478) -chr2 48440765 48515385 2p16.3 2p16.3 618159 PPP1R21, CCDC128, KLRAQ1, NEDHFBA Protein phosphatase 1, regulatory subunit 21 PPP1R21 129285 ENSG00000162869 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, 619383 (3), Autosomal recessive Ppp1r21 (MGI:1921075) -chr2 48530153 48598512 2p16.3 2p16.3 605357 STON1, STN1, SBLF, SALF Stonin 1 STON1 11037 ENSG00000243244 Ston1 (MGI:1924307) -chr2 48617855 48679603 2p16.3 2p16.3 605358 GTF2A1L, ALF General transcription factor IIA, 1-like GTF2A1L 11036 ENSG00000242441 Gtf2a1l (MGI:1919078) -chr2 48686773 48755723 2p21 2p16.3 152790 LHCGR, LHR, LCGR Luteinizing hormone/choriogonadotropin receptor LHCGR 3973 ENSG00000138039 Leydig cell adenoma, somatic, with precocious puberty, 176410 (3); Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3), Autosomal recessive; Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3), Autosomal recessive; Luteinizing hormone resistance, female, 238320 (3), Autosomal recessive; Precocious puberty, male, 176410 (3), Autosomal dominant Lhcgr (MGI:96783) -chr2 48953160 49154526 2p21-p16 2p16.3 136435 FSHR, ODG1 Follicle stimulating hormone receptor FSHR 2492 ENSG00000170820 Ovarian response to FSH stimulation, 276400 (3), Autosomal recessive; Ovarian hyperstimulation syndrome, 608115 (3), Autosomal dominant; Ovarian dysgenesis 1, 233300 (3), Autosomal recessive Fshr (MGI:95583) -chr2 49918502 51032131 2p16.3 2p16.3 600565 NRXN1, PTHSL2, SCZD17 Neurexin 1 NRXN1 9378 ENSG00000179915 Pitt-Hopkins-like syndrome 2, 614325 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 17}, 614332 (3) Nrxn1 (MGI:1096391) -chr2 53669979 53786952 2p16.2 2p16.2 605760 ASB3 Ankyrin repeat-containing SOCS box protein 3 ASB3 51130 ENSG00000115239 Asb3 (MGI:1929749) -chr2 53767782 53775195 2p16.2 2p16.2 617446 CHAC2 ChaC, E. coli, homolog of, 2 CHAC2 494143 ENSG00000143942 Chac2 (MGI:1915294) -chr2 53787016 53834523 2p16.2 2p16.2 611229 ERLEC1, C2orf30 Erlectin (endoplasmic reticulum lectin 1) ERLEC1 27248 ENSG00000068912 Erlec1 (MGI:1914003) -chr2 53852911 53859966 2p16 2p16.2 606704 GPR75 G protein-coupled receptor 75 GPR75 10936 ENSG00000119737 Gpr75 (MGI:2441843) -chr2 53864068 53970992 2p16.2 2p16.2 607705 PSME4, PA200, KIAA0077 Proteasome activator subunit 4 PSME4 23198 ENSG00000068878 Psme4 (MGI:2143994) -chr2 53971112 54305299 2p16.2 2p16.2 102595 ACYP2, ACYP Acylphosphatase 2, muscle type ACYP2 98 ENSG00000170634 Acyp2 (MGI:1922822) -chr2 54456326 54671445 2p21 2p16.2 182790 SPTBN1, DDISBA Spectrin, beta, nonerythrocytic-1 (beta-fodrin) SPTBN1 6711 ENSG00000115306 Developmental delay, impaired speech, and behavioral abnormalities, 619475 (3), Autosomal dominant Sptbn1 (MGI:98388) -chr2 54700000 61000000 2p16 609958 ASRT3 Asthma-related traits, susceptibility to, 3 100188801 max lod at rs2063871 {Asthma-related traits, susceptibility to, 3}, 609958 (2) -chr2 54700000 61000000 2p16 605244 CNC2 Carney complex, type II 1257 Carney complex, type II, 605244 (2) -chr2 54700000 63900000 2p16.1-p15 612513 DEL2p16.1-p15, C2DELp161-p15 Chromosome 2p16.1-p15 deletion syndrome contiguous gene deletion syndrome Chromosome 2p16.1-p15 deletion syndrome, 612513 (4), Isolated cases -chr2 54700000 63900000 2p16-p15 604254 DYX3 Dyslexia, susceptibility to, 3 11192 {Dyslexia, susceptibility to, 3}, 604254 (2) -chr2 54700000 63900000 2p16-p15 611276 GLC1H Glaucoma 1, open angle, H 399564 between D2S123 AND D2S2165 Glaucoma 1, open angle, H, 611276 (2) -chr2 54700000 61000000 2p16.1 142335 HBFQTL5 Fetal hemoglobin quantitative trait locus 5 3247 associated with rs11886868 [Fetal hemoglobin QTL5], 142335 (2), Autosomal dominant -chr2 54700000 61000000 2p16 613549 STQTL24 Stature quantitative trait locus 24 100529223 linked to rs1520446 {Stature QTL 24}, 613549 (2) -chr2 54972188 55137830 2p14-p13 2p16.1 604475 RTN4, NOGO Neurite outgrowth inhibitor (reticulon 4) RTN4 57142 ENSG00000115310 Rtn4 (MGI:1915835) -chr2 55231902 55235852 2p16.1 2p16.1 191343 RPS27A, UBA80, HUBCEP80, CEP80, UBCEP1 Ribosomal protein S27a RPS27A 6233 ENSG00000143947 Rps27a (MGI:1925544) -chr2 55235582 55269313 2p16-p14 2p16.1 603766 MTIF2 Mitochondrial translational initiation factor 2 MTIF2 4528 ENSG00000085760 Mtif2 (MGI:1924034) -chr2 55287816 55419855 2p16.1 2p16.1 609736 CCDC88A, KIAA1212, HKRP1, GIRDIN, APE, GIV, PEHOL Coiled-coil domain-containing protein 88A CCDC88A 55704 ENSG00000115355 mutation identified in 1 PEHOL family ?PEHO syndrome-like, 617507 (3), Autosomal recessive Ccdc88a (MGI:1925177) -chr2 55547291 55618131 2p16.1 2p16.1 610352 PPP4R3B, PP4R3B, SMEK2, KIAA1387 Protein phosphatase 4, regulatory subunit 3, beta PPP4R3B 57223 ENSG00000275052 Ppp4r3b (MGI:2144474) -chr2 55634060 55693852 2p16.1 2p16.1 610316 PNPT1, OLD35, COXPD13, DFNB70 Polyribonucleotide nucleotidyltransferase 1 PNPT1 87178 ENSG00000138035 Deafness, autosomal recessive 70, 614934 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 13, 614932 (3), Autosomal recessive Pnpt1 (MGI:1918951) -chr2 55865966 55924162 2p16 2p16.1 601548 EFEMP1, FBNL, DHRD EGF-containing fibulin-like extracellular matrix protein 1 (fibrillin-like) EFEMP1 2202 ENSG00000115380 Doyne honeycomb degeneration of retina, 126600 (3), Autosomal dominant Efemp1 (MGI:1339998) -chr2 55982966 55983075 2p16.1 2p16.1 615096 MIR217 Micro RNA 217 MIR217 406999 ENSG00000207548 Mir217 (MGI:2676893) -chr2 55988949 55989058 2p16.1 2p16.1 610944 MIR216, MIRN216 Micro RNA 216 MIR216A 406998 ENSG00000207798 Mir216a (MGI:2676892) -chr2 57907591 58163992 2p16-p15 2p16.1 602169 VRK2 Vaccinia-related kinase-2 VRK2 7444 ENSG00000028116 Vrk2 (MGI:1917172) -chr2 58159242 58241680 2p16.1 2p16.1 608111 PHF9, FANCL PHD finger protein 9 FANCL 55120 ENSG00000115392 Fanconi anemia, complementation group L, 614083 (3), Autosomal recessive Fancl (MGI:1914280) -chr2 60450519 60553653 2p16.1 2p16.1 606557 BCL11A, CTIP1, EVI9, KIAA1809, DILOS B-cell CLL/lymphoma 11A BCL11A 53335 ENSG00000119866 Dias-Logan syndrome, 617101 (3), Autosomal dominant Bcl11a (MGI:106190) -chr2 60756247 60802085 2p16.1 2p16.1 616865 PAPOLG Poly(A) polymerase, gamma PAPOLG 64895 ENSG00000115421 Papolg (MGI:2442119) -chr2 60881520 60931611 2p13-p12 2p16.1 164910 REL REL protooncogene, NF-kappa-B subunit REL 5966 ENSG00000162924 Rel (MGI:97897) -chr2 60940217 61019692 2p16.1 2p16-p15 612787 PUS10, DOBI Pseudouridylate synthase 10 PUS10 150962 ENSG00000162927 Pus10 (MGI:1921717) -chr2 61017719 61051989 2p15 2p15 601789 PEX13, ZWS, NALD, PBD11A, PBD11B Peroxisome biogenesis factor 13 (peroxin 13) PEX13 5194 ENSG00000162928 Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3), Autosomal recessive; Peroxisome biogenesis disorder 11B, 614885 (3), Autosomal recessive Pex13 (MGI:1919379) -chr2 61187462 61471086 2p15 2p15 615295 USP34, KIAA0570 Ubiquitin-specific protease 34 USP34 9736 ENSG00000115464 Usp34 (MGI:109473) -chr2 61477848 61538521 2p16 2p15 602559 XPO1, CRM1 Exportin-1 (required for chromosome region maintenance) XPO1 7514 ENSG00000082898 Xpo1 (MGI:2144013) -chr2 61800239 61854125 2p15 2p15 613596 FAM161A, RP28 Family with sequence similarity 161, member A FAM161A 84140 ENSG00000170264 Retinitis pigmentosa 28, 606068 (3) Fam161a (MGI:1921123) -chr2 61868084 61888670 2p15 2p15 605142 CCT4, CCTD, SRB Chaperonin containing T-complex polypeptide 1, subunit 4 CCT4 10575 ENSG00000115484 Cct4 (MGI:104689) -chr2 61888390 62136065 2p16-p13 2p15 607238 COMMD1, MURR1 Copper metabolism Murr1 domain-containing 1 COMMD1 150684 ENSG00000173163 Commd1 (MGI:109474) -chr2 62196114 62224730 2p15 2p15 605581 B3GNT2, B3GNT1, B3GNT Beta-1,3-N-acetylglucosyaminyltransferase 2 B3GNT2 10678 ENSG00000170340 B3gnt2 (MGI:1889505) -chr2 62452777 62511893 2p15 2p15 614950 TMEM17 Transmembrane protein 17 TMEM17 200728 ENSG00000186889 Tmem17 (MGI:2144205) -chr2 62673877 63046486 2p15 2p15 609922 EHBP1, KIAA0903, HPC12 EH domain-binding protein 1 EHBP1 23301 ENSG00000115504 {Prostate cancer, hereditary, 12}, 611868 (3) Ehbp1 (MGI:2667252) -chr2 63049734 63057830 2p13 2p15 600036 OTX1 Orthodenticle, Drosophila, homolog of, 1 OTX1 5013 ENSG00000115507 Otx1 (MGI:97450) -chr2 63119558 63588732 2p15 2p15 613580 WDPCP, C2orf86, BBS15, CHDTHP WD repeat-containing planar cell polarity effector WDPCP 51057 ENSG00000143951 mutation identified in 1 BBS15 family ?Bardet-Biedl syndrome 15, 615992 (3), Autosomal recessive; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3), Autosomal recessive Wdpcp (MGI:2144467) -chr2 63588962 63607196 2p16 2p15 154200 MDH1, DEE88, KAR Malate dehydrogenase, soluble MDH1 4190 ENSG00000014641 proximal to APOB; mutation identified in 1 DEE88 family ?Developmental and epileptic encephalopathy 88, 618959 (3), Autosomal recessive Mdh1 (MGI:97051) -chr2 63840968 63891561 2p14-p13 2p15 191760 UGP2, UGPP2, DEE83 Uridyl diphosphate glucose pyrophosphorylase-2 UGP2 7360 ENSG00000169764 Developmental and epileptic encephalopathy 83, 618744 (3), Autosomal recessive Ugp2 (MGI:2183447) -chr2 63892148 64019427 2p14 2p15-p14 614633 VPS54, VPS54L, WR VPS54 subunit of GARP complex VPS54 51542 ENSG00000143952 Vps54 (MGI:2178798) -chr2 63900000 71300000 2p14-p13.3 610071 HRPT3 Hyperparathyroidism 3 780919 between D2S2368 and D2S358 Hyperparathyroidism 3, 610071 (2) -chr2 63900000 74800000 2p14-p13 612853 RLS7 Restless legs syndrome, susceptibility to, 7 100302561 associated with rs2300478 {Restless legs syndrome 7}, 612853 (2) -chr2 64092651 64144420 2p13.3 2p14 614797 PELI1 Pellino, Drosophila, homolog of, 1 PELI1 57162 ENSG00000197329 Peli1 (MGI:1914495) -chr2 64454161 64461380 2p14 2p14 617902 LGALSL Galectin-like protein LGALSL 29094 ENSG00000119862 Gm5065,Lgalsl (MGI:3643170,MGI:1916114) -chr2 64631620 64751085 2p14 2p14 617851 SERTAD2, TRIPBR2, KIAA0127 SERTA domain-containing protein 2 SERTAD2 9792 ENSG00000179833 Sertad2 (MGI:1931026) -chr2 64988478 65023864 2p14 2p14 600229 SLC1A4, SATT, ASCT1, SPATCCM Solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 SLC1A4 6509 ENSG00000115902 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3), Autosomal recessive Slc1a4 (MGI:2135601) -chr2 65056401 65087003 2p14 2p14 616889 CEP68, KIAA0582 Centrosomal protein, 68kD CEP68 23177 ENSG00000011523 Cep68 (MGI:2667663) -chr2 65086853 65130131 2p14 2p14 179508 RAB1, RAB1A RAB1, member RAS oncogene family RAB1A 5861 ENSG00000138069 Rab1a (MGI:97842) -chr2 65227830 65271252 2p14 2p14 604221 ACTR2, ARP2 Actin-related protein 2 ACTR2 10097 ENSG00000138071 Actr2 (MGI:1913963) -chr2 65307424 65432598 2p14 2p14 609292 SPRED2 Sprouty-related EVH1 domain-containing protein 2 SPRED2 200734 ENSG00000198369 Spred2 (MGI:2150019) -chr2 66435124 66573868 2p14-p13 2p14 601739 MEIS1 Meis homeobox 1 MEIS1 4211 ENSG00000143995 Meis1 (MGI:104717) -chr2 67397316 67412088 2p15-p13 2p14 613196 ETAA1, ETAA16 Ewing tumor-associated antigen 1 ETAA1 54465 ENSG00000143971 Etaa1 (MGI:1915395) -chr2 68041129 68063003 2p13-p12 2p14 606997 C1D, SUNCOR Nuclear DNA-binding protein C1D C1D 10438 ENSG00000197223 pseudogene on chr.10 C1d (MGI:1927354) -chr2 68129804 68157526 2q14 2p14 610729 WDR92, LOC116143, MONAD WD repeat-containing protein 92 DNAAF10 116143 ENSG00000243667 Dnaaf10 (MGI:2144224) -chr2 68157887 68176237 2p14 2p14 618710 PNO1 Partner of NOB1 PNO1 56902 ENSG00000115946 Pno1 (MGI:1913499) -chr2 68178856 68252531 2p16-p15 2p14 601302 PPP3R1, CALNB1 Protein phosphatase-3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I) PPP3R1 5534 ENSG00000221823 Ppp3r1 (MGI:107172) -chr2 68284170 68319948 2p14 2p14 618538 CNRIP1, CRIP1 Cannabinoid receptor-interacting protein 1 CNRIP1 25927 ENSG00000119865 Cnrip1 (MGI:1917505) -chr2 68365281 68397452 2p 2p14 173570 PLEK Pleckstrin PLEK 5341 ENSG00000115956 Plek (MGI:1860485) -chr2 68467584 68580161 2p14 2p13.3 611035 AFPL, C2orf13 Aprataxin- and PNK-like factor APLF 200558 ENSG00000169621 Aplf (MGI:1919353) -chr2 68643578 68658250 2p13.3 2p13.3 607122 PROKR1, PKR1, GPR73 Prokineticin receptor 1 PROKR1 10887 ENSG00000169618 Prokr1 (MGI:1929676) -chr2 68710509 68826844 2p13 2p13.3 610587 ARHGAP25, KAIA0053 RHO GTPase-activating protein 25 ARHGAP25 9938 ENSG00000163219 Arhgap25 (MGI:2443687) -chr2 68860908 68871396 2p13.3 2p13.3 608748 BMP10 Bone morphogenetic protein 10 BMP10 27302 ENSG00000163217 Bmp10 (MGI:1338820) -chr2 68945231 68952892 2p13.3 2p13.3 618589 GKN2, GDDR Gastrokine 2 GKN2 200504 ENSG00000183607 Gkn2 (MGI:1913534) -chr2 68974635 68980975 2p13.3 2p13.3 606402 GKN1, CA11 Gastrokine 1 GKN1 56287 ENSG00000169605 Gkn1 (MGI:1913533) -chr2 69013143 69249326 2p13.1 2p13.3 606410 ANTXR1, TEM8, ATR, GAPO Anthrax toxin receptor 1 ANTXR1 84168 ENSG00000169604 mutation identified in 1 HCI patient GAPO syndrome, 230740 (3), Autosomal recessive; {?Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant Antxr1 (MGI:1916788) -chr2 69319779 69387226 2p13 2p13.3 138292 GFPT1, GFAT1, GFPT1L, MSLG, CMS12, CMSTA1 Glutamine-fructose-6-phosphate transaminase GFPT1 2673 ENSG00000198380 Myasthenia, congenital, 12, with tubular aggregates, 610542 (3), Autosomal recessive Gfpt1 (MGI:95698) -chr2 69395749 69439566 2p15-p13 2p13.3 608100 NFU1, HIRIP, MMDS1 NFU1 iron-sulfur cluster scaffold NFU1 27247 ENSG00000169599 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3), Autosomal recessive Nfu1 (MGI:1913290) -chr2 69457996 69643738 2p13.3 2p13.3 616405 AAK1, KIAA1048 Adaptor protein 2-associated kinase 1 AAK1 22848 ENSG00000115977 Aak1 (MGI:1098687) -chr2 69643807 69827111 2p13 2p13.3 106491 ANXA4, ANX4 Annexin A4 (placental anticoagulant protein II) ANXA4 307 ENSG00000196975 Anxa4 (MGI:88030) -chr2 69829659 69881388 2p13.3 2p13.3 618627 GMCL1, SPATA29, BTBD13 Germ cell-less 1, spermatogenesis-associated GMCL1 64395 ENSG00000087338 Gmcl1 (MGI:1345156) -chr2 69915108 69942944 2p13 2p13.3 600021 MAD MAD protein (MAX-binding protein) MXD1 4084 ENSG00000059728 Mxd1 (MGI:96908) -chr2 69932716 70087374 2p13.1 2p13.3 611765 ASPRV1, SASP, TAPS, MUNO, ADLI Aspartic peptidase, retroviral-like 1 ASPRV1 151516 ENSG00000179818 Ichthyosis, lamellar, autosomal dominant, 146750 (3), Autosomal dominant Asprv1 (MGI:1915105) -chr2 70087476 70089202 2p13-p12 2p13.3 601209 PCBP1 Poly(rC)-binding protein-1 PCBP1 5093 ENSG00000169564 Pcbp1 (MGI:1345635) -chr2 70209443 70248792 2p13 2p13.3 603518 TIA1, WDM, ALS26 TIA1 cytotoxic granule-associated RNA-binding protein TIA1 7072 ENSG00000116001 Welander distal myopathy, 604454 (3), Autosomal dominant, Autosomal recessive; Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, 619133 (3) Tia1 (MGI:107914) -chr2 70258136 70281184 2p13.3 2p13.3 610995 PCYOX1, PCL1, KIAA0908 Prenylcysteine oxidase 1 PCYOX1 51449 ENSG00000116005 Pcyox1 (MGI:1914131) -chr2 70281361 70293739 2p13.3 2p13.3 603542 SNRPG Small nuclear ribonucleoprotein polypeptide G SNRPG 6637 ENSG00000143977 Snrpg,Gm8186 (MGI:1915261,MGI:3643110) -chr2 70295975 70302066 2p13.3 2p13.3 616275 FAM136A Family with sequence similarity 136, member A FAM136A 84908 ENSG00000035141 Fam136a (MGI:1913738) -chr2 70447283 70553825 2p13 2p13.3 190170 TGFA Transforming growth factor, alpha TGFA 7039 ENSG00000163235 Tgfa (MGI:98724) -chr2 70656783 70768199 2p14-p13 2p13.3 102681 ADD2 Adducin-2, beta ADD2 119 ENSG00000075340 Add2 (MGI:87919) -chr2 70777309 70790642 2p12 2p13.3 608697 FIGLA, POF6 Folliculogenesis specific bHLH transcription factor FIGLA 344018 ENSG00000183733 Premature ovarian failure 6, 612310 (3), Autosomal dominant Figla (MGI:1349421) -chr2 70825247 70860786 2p13 2p13.3 604862 CD207, LANGERIN, CLEC4K CD207 antigen CD207 50489 ENSG00000116031 mutation identified in 1 patient [?Birbeck granule deficiency], 613393 (3) Cd207 (MGI:2180021) -chr2 70900550 70933916 2p13 2p13.3 604295 VAX2 Ventral anterior homeo box 2 VAX2 25806 ENSG00000116035 Vax2 (MGI:1346018) -chr2 70935899 70965430 2cen-q13 2p13.3 192132 ATP6V1B1, ATP6B1, VPP3, DRTA2 ATPase, H+ transporting, V1 subunit B1 ATP6V1B1 525 ENSG00000116039 Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, 267300 (3), Autosomal recessive Atp6v1b1 (MGI:103285) -chr2 70978444 70986676 2p13.3 2p13.3 617009 ANKRD53 Ankyrin repeat domain-containing protein 53 ANKRD53 79998 ENSG00000144031 Ankrd53 (MGI:1922555) -chr2 70985941 70994872 2p13.3 2p13.3 618562 TEX261 Testis-expressed gene 261 TEX261 113419 ENSG00000144043 Tex261 (MGI:1096575) -chr2 71068277 71079807 2p13.3 2p13.3 606828 NAGK, GNK N-acetylglucosamine kinase NAGK 55577 ENSG00000124357 Nagk (MGI:1860418) -chr2 71109683 71130287 2p13.3 2p13.3 608419 MCEE Methylmalonyl-CoA epimerase MCEE 84693 ENSG00000124370 Methylmalonyl-CoA epimerase deficiency, 251120 (3), Autosomal recessive Mcee (MGI:1920974) -chr2 71130633 71150100 2p13.3 2p13.3 605503 MPHOSPH10, MPP10 M-phase phosphoprotein 10 MPHOSPH10 10199 ENSG00000124383 Mphosph10 (MGI:1915223) -chr2 71182737 71227109 2p13.3 2p13.3 611018 PAIP2B Polyadenylate-binding protein-interacting protein 2B PAIP2B 400961 ENSG00000124374 Paip2b (MGI:2386865) -chr2 71331781 71435060 2p13.2 2p13.2 614349 ZNF638, NP220 Zinc finger protein 638 ZNF638 27332 ENSG00000075292 Zfp638 (MGI:1203484) -chr2 71453153 71686762 2p13.3-p13.1 2p13.2 603009 DYSF, LGMDR2, MMD1 Dysferlin DYSF 8291 ENSG00000135636 Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3), Autosomal recessive; Miyoshi muscular dystrophy 1, 254130 (3), Autosomal recessive; Myopathy, distal, with anterior tibial onset, 606768 (3), Autosomal recessive Dysf (MGI:1349385) -chr2 72129237 72147861 2p13.2 2p13.2 605207 CYP26B1, CYP26A2, P450RAI2, RHFCA Cytochrome P450, subfamily XXVIB, polypeptide 1 CYP26B1 56603 ENSG00000003137 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3) Cyp26b1 (MGI:2176159) -chr2 72175983 72826032 2p13.2 2p13.2 607880 EXOC6B, SEC15B, KIAA0919, SEMDJL3 Exocyst complex component 6B EXOC6B 23233 ENSG00000144036 Spondyloepimetaphyseal dysplasia with joint laxity, type 3, 618395 (3), Autosomal recessive Exoc6b (MGI:1923164) -chr2 72887407 72892157 2p14-p12 2p13.2 182125 SPR Sepiapterin reductase SPR 6697 ENSG00000116096 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3), ?Autosomal dominant, Autosomal recessive Spr (MGI:103078) -chr2 72910948 72936690 2p14-p13 2p13.2 600034 EMX1 Empty spiracles homeobox 1 EMX1 2016 ENSG00000135638 close to VAX2 Emx1 (MGI:95387) -chr2 72942035 73071711 2p13 2p13.2 615572 SFXN5 Sideroflexin 5 SFXN5 94097 ENSG00000144040 Sfxn5 (MGI:2137681) -chr2 73073381 73112947 2p13-p12 2p13.2 605536 RAB11RIP5, RIP11, KIAA0857 Rab11 family-interacting protein 5 RAB11FIP5 26056 ENSG00000135631 Rab11fip5 (MGI:1098586) -chr2 73214244 73227220 2p13.2 2p13.2 619114 SMYD5 SET and MYND domain-containing protein 5 SMYD5 10322 ENSG00000135632 Smyd5 (MGI:108048) -chr2 73233424 73253007 2p13 2p13.2 605140 CCT7 Chaperonin containing T-complex polypeptide 1, subunit 7 CCT7 10574 ENSG00000135624 Cct7 (MGI:107184) -chr2 73254689 73284477 2p13.2 2p13.2 609108 FBXO41, FBX41, KIAA1940 F-box only protein 41 FBXO41 150726 ENSG00000163013 Fbxo41 (MGI:1261912) -chr2 73290928 73293547 2p13 2p13.2 128992 EGR4, NGFIC Early growth response-4 EGR4 1961 ENSG00000135625 Egr4 (MGI:99252) -chr2 73300000 74800000 2p13 602966 OFC2 Orofacial cleft 2 4964 ?relation to TGFA Orofacial cleft 2, 602966 (2), Autosomal dominant -chr2 73300000 74800000 2p13 602404 PARK3 Parkinson disease 3 5072 {Parkinson disease 3}, 602404 (2) -chr2 73300000 74800000 2p13 189800 PEE1, PREG1 Preeclampsia/eclampsia 1 5177 ?distinct loci at 2p25 and 9p13 Preeclampsia/eclampsia 1, 189800 (2), Autosomal dominant -chr2 73385757 73609918 2p13 2p13.1 606844 ALMS1, ALSS, KIAA0328 ALMS1 centrosome and basal body associated protein ALMS1 7840 ENSG00000116127 Alstrom syndrome, 203800 (3), Autosomal recessive Alms1 (MGI:1934606) -chr2 73640722 73642421 2p13.1-p12 2p13.1 606716 NAT8, TSC510 N-acetyltransferase 8 NAT8 9027 ENSG00000144035 Nat8f5,Nat8f6,Nat8f3,Nat8,Nat8f4,Nat8f1,Nat8f2,Nat8b-ps,Nat8f7 (MGI:3644831,MGI:1913366,MGI:1915646,MGI:1922791,MGI:2136449,MGI:2136446,MGI:3779382,MGI:1916299,MGI:3782661) -chr2 73700508 73701339 2p13.1-p12 2p13.1 608190 NAT8B, CML2 N-acetyltransferase 8B NAT8B 51471 ENSG00000204872 Nat8,Nat8b-ps (MGI:3644831,MGI:1915646) -chr2 73729872 73737344 2p13.1 2p13.1 608680 TPRKB, GAMOS5 TP53RK-binding protein TPRKB 51002 ENSG00000144034 Galloway-Mowat syndrome 5, 617731 (3), Autosomal recessive Tprkb (MGI:1917036) -chr2 73762197 73780156 2p13.1 2p13.1 603092 DUSP11, PIR1 Dual specificity phosphatase-11, RNA/RNP complex-interacting DUSP11 8446 ENSG00000144048 Dusp11 (MGI:1919352) -chr2 73828910 73873655 2p13.1 2p13.1 606247 STAMBP, AMSH, MICCAP STAM binding protein STAMBP 10617 ENSG00000124356 Microcephaly-capillary malformation syndrome, 614261 (3), Autosomal recessive Stambp (MGI:1917777) -chr2 73893007 73919864 2p13.1 2p13.1 102545 ACTG2, ACTA3, VSCM1, MMIHS5 Actin, gamma-2, smooth muscle, enteric ACTG2 72 ENSG00000163017 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, 619431 (3), Autosomal dominant; Visceral myopathy 1, 155310 (3), Autosomal dominant Actg2 (MGI:104589) -chr2 73926826 73958960 2p13 2p13.1 601465 DGUOK, DGK, MTDPS3, PEOB4, NCPH1 Deoxyguanosine kinase, mitochondrial DGUOK 1716 ENSG00000114956 Portal hypertension, noncirrhotic, 1, 617068 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3), Autosomal recessive Dguok (MGI:1351602) -chr2 73982035 74135393 2p13.1 2p13.1 613555 TET3, KIAA0401, BEFAHRS tet methylcytosine dioxygenase 3 TET3 200424 ENSG00000187605 Beck-Fahrner syndrome, 618798 (3), Autosomal dominant, Autosomal recessive Tet3 (MGI:2446229) -chr2 74135399 74147911 2p13.1 2p13.1 613183 BOLA3, MMDS2 bolA family member 3 BOLA3 388962 ENSG00000163170 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3), Autosomal recessive Bola3 (MGI:1925903) -chr2 74152527 74178878 2p13.1 2p13.1 609281 MOB1A, MABKL1B, MATS1, C2orf6 MOB kinase activator 1A MOB1A 55233 ENSG00000114978 Mob1a (MGI:2442631) -chr2 74198590 74217564 2p13.1 2p13.1 604887 MTHFD2 Methylenetetrahydrofolate dehydrogenase 2 MTHFD2 10797 ENSG00000065911 Mthfd2 (MGI:1338850) -chr2 74216241 74343415 2p13 2p13.1 606757 SLC4A5, NBC4 Solute carrier family 4, sodium bicarbonate cotransporter, member 5 SLC4A5 57835 ENSG00000188687 Slc4a5 (MGI:2443220) -chr2 74361154 74391865 2p13 2p13.1 601143 DCTN1, HMN7B Dynactin 1 DCTN1 1639 ENSG00000204843 Neuronopathy, distal hereditary motor, type VIIB, 607641 (3), Autosomal dominant; Perry syndrome, 168605 (3), Autosomal dominant; {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal dominant, Autosomal recessive Dctn1 (MGI:107745) -chr2 74425834 74441936 2p13 2p13.1 602288 RTKN Rhotekin RTKN 6242 ENSG00000114993 Rtkn (MGI:107371) -chr2 74455086 74457943 2p13 2p13.1 616456 INO80B, PAPA1, HMGA1L4 INO80 complex, subunit B INO80B 83444 ENSG00000115274 Ino80b (MGI:1917270) -chr2 74458437 74460880 2p12 2p13.1 606961 WBP1 WW domain-binding protein 1 WBP1 23559 ENSG00000239779 Wbp1 (MGI:104710) -chr2 74461056 74465381 2p13.1 2p13.1 601336 MOGS, GCS1, CDG2B Mannosyl-oligosaccharide glucosidase MOGS 7841 ENSG00000115275 Congenital disorder of glycosylation, type IIb, 606056 (3), Autosomal recessive Mogs (MGI:1929872) -chr2 74471981 74472679 2p12 2p13.1 611857 MRPL53 Mitochondrial ribosomal protein L53 MRPL53 116540 ENSG00000204822 pseudogene on 1 Mrpl53 (MGI:1915749) -chr2 74497516 74503315 2p13 2p13.1 607164 LBX2 Lady bird-like homeo box 2 LBX2 85474 ENSG00000179528 Lbx2 (MGI:1342288) -chr2 74505042 74507694 2p13.1 2p13.1 610231 PCGF1, NSPC1 Polycomb group RING finger protein 1 PCGF1 84759 ENSG00000115289 Pcgf1 (MGI:1917087) -chr2 74514449 74517147 2p13.1-p12 2p13.1 604240 TLX2, HOX11L1 T-cell leukemia, homeobox 2 TLX2 3196 ENSG00000115297 Tlx2 (MGI:1350935) -chr2 74526651 74529705 2p13 2p13.1 602434 AUP1 Ancient ubiquitous protein 1 AUP1 550 ENSG00000115307 Aup1 (MGI:107789) -chr2 74529404 74533555 2p12 2p13.1 606441 HTRA2, OMI, PARK13, PRSS25, MGCA8 HTRA serine peptidase 2 HTRA2 27429 ENSG00000115317 {Parkinson disease 13}, 610297 (3); 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive Htra2 (MGI:1928676) -chr2 74532257 74555718 2p13.3 2p13.1 607163 LOXL3 Lysyl oxidase-like 3 LOXL3 84695 ENSG00000115318 Loxl3 (MGI:1337004) -chr2 74549104 74557550 2p13 2p13.1 602919 DOK1 Downstream of tyrosine kinase 1 DOK1 1796 ENSG00000115325 Dok1 (MGI:893587) -chr2 74557639 74648329 2p13.1 2p13.1 619098 M1AP, SPATA37, C2orf65, SPGF48 Meiosis 1-associated protein M1AP 130951 ENSG00000159374 Spermatogenic failure 48, 619108 (3), Autosomal recessive M1ap (MGI:1315200) -chr2 74654228 74699012 2p13 2p13.1 603706 SEMAW Semaphorin W SEMA4F 10505 ENSG00000135622 Sema4f (MGI:1340055) -chr2 74800000 83100000 2p12 607304 CTRCT27, CCNP Cataract 27, nuclear progressive 266979 near D2S2333 Cataract 27, nuclear progressive, 607304 (2) -chr2 74800000 91800000 2p12-p11.2 613564 DEL2p12p11.2, C2DELp12p11.2 Chromosome 2p12-p11.2 deletion syndrome contiguous gene deletion syndrome Chromosome 2p12-p11.2 deletion syndrome, 613564 (4) -chr2 74800000 83100000 2p12 608394 DFNA43 Deafness, autosomal dominant 43 192676 max lod at D2S139 Deafness, autosomal dominant 43, 608394 (2), Autosomal dominant -chr2 74800000 147900000 2p12-q22 139900 HSR Hand skill, relative 338386 [Handedness], 139900 (2), Autosomal dominant -chr2 74800000 83100000 2p12 146970 IGKJ@ Immunoglobulin kappa light chain joining gene cluster 7842 5 genes -chr2 74800000 83100000 2p12 146980 IGKV@ Immunoglobulin kappa light chain variable gene cluster 3519 25+ genes in 4 classes; orphon gene 1.5Mb telomeric of IGKC -chr2 74834125 74893358 2p12 2p12 601125 HK2 Hexokinase-2, muscle HK2 3099 ENSG00000159399 no recombination with TGFA Hk2 (MGI:1315197) -chr2 74958642 74970127 2p12 2p12 607269 POLE4 Polymerase, DNA, epsilon-4 POLE4 56655 ENSG00000115350 Pole4 (MGI:1914229) -chr2 75046462 75199519 2p11 2p12 162323 TACR1, TAC1R, NK1R Tachykinin receptor 1 (substance P receptor; neurokinin-1 receptor) TACR1 6869 ENSG00000115353 Tacr1 (MGI:98475) -chr2 75492317 75569718 2p12 2p12 618990 EVA1A, TMEM166, FAM176A EVA1 homolog A, regulator of programmed cell death EVA1A 84141 ENSG00000115363 Eva1a (MGI:2385247) -chr2 75646782 75662205 2p11.2-q11.2 2p12 611832 MRPL19, MRPL15, KIAA0104 Mitochondrial ribosomal protein L19 MRPL19 9801 ENSG00000115364 Mrpl19 (MGI:1926274) -chr2 75655605 75711641 2p11.2-p11.1 2p12 189901 C2orf3, TCF9, GCF GC factor GCFC2 6936 ENSG00000005436 Gcfc2 (MGI:2141656) -chr2 76747684 77522375 2p12 2p12 610870 LRRTM4 Leucine-rich repeat transmembrane protein 4 LRRTM4 80059 ENSG00000176204 Lrrtm4 (MGI:2389180) -chr2 79025663 79028501 2p12 2p12 609933 REG3G, PAP1B Regenerating islet-derived 3-gamma REG3G 130120 ENSG00000143954 Reg3a,Reg3b,Reg3d,Reg3g (MGI:109408,MGI:1353426,MGI:109406,MGI:97478) -chr2 79085022 79087992 2p12 2p12 167771 REGL, PSPS2 Regenerating islet-derived, rat, homolog-like (pancreatic stone protein-like; pancreatic thread protein-like) REG1B 5968 ENSG00000172023 Reg2,Reg1 (MGI:97896,MGI:97895) -chr2 79120487 79123408 2p12 2p12 167770 REG1A, PSPS1, REG Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) REG1A 5967 ENSG00000115386 Reg2,Reg1 (MGI:97896,MGI:97895) -chr2 79157005 79159752 2p12 2p12 167805 PAP Pancreatitis-associated protein REG3A 5068 ENSG00000172016 Reg3a,Reg3b,Reg3d (MGI:109408,MGI:1353426,MGI:97478) -chr2 79505053 80648787 2p12-p11.1 2p12 114025 CTNNA2, CAPR, CTNR, CDCBM9 Catenin, alpha-2 (cadherin-associated protein, related) CTNNA2 1496 ENSG00000066032 Cortical dysplasia, complex, with other brain malformations 9, 618174 (3), Autosomal recessive Ctnna2 (MGI:88275) -chr2 80301877 80304751 2p12 2p12 610867 LRRTM1 Leucine-rich repeat transmembrane protein 1 LRRTM1 347730 ENSG00000162951 Lrrtm1 (MGI:2389173) -chr2 84423527 84459279 2p11.2 2p11.2 611224 SUCLG1, SUCLA1, MTDPS9 Succinate-CoA ligase, alpha subunit SUCLG1 8802 ENSG00000163541 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3), Autosomal recessive Suclg1 (MGI:1927234) -chr2 84459571 84819588 2p11.2 2p11.2 603336 DNAH6, HL2 Dynein, axonemal, heavy chain 6 DNAH6 1768 ENSG00000115423 Dnah6 (MGI:107744) -chr2 84821649 84881974 2p11.2 2p11.2 614912 TRABD2A, TIKI1 TRAB domain-containing protein 2A TRABD2A 129293 ENSG00000186854 -chr2 84905655 84906670 2p11.2 2p11.2 188399 TMSB10 Thymosin, beta-10 TMSB10 9168 ENSG00000034510 Tmsb10 (MGI:109146) -chr2 84971160 85059471 2p11.2 2p11.2 614719 KCMF1, DEBT91, FIGC Potassium channel modulatory factor 1 KCMF1 56888 ENSG00000176407 Kcmf1 (MGI:1921537) -chr2 85133391 85310386 2p11.2 2p11.2 604652 TCF7L1 Transcription factor 7-like 1 TCF7L1 83439 ENSG00000152284 Tcf7l1 (MGI:1202876) -chr2 85318026 85327988 2p11.2 2p11.2 603062 TGOLN2, TGN46, TGN38 Trans-golgi network protein 2, 46kD TGOLN2 10618 ENSG00000152291 Tgoln2,Tgoln1 (MGI:105080,MGI:105079) -chr2 85341954 85354527 2p11.2 2p11.2 617597 RETSAT Retinol saturase RETSAT 54884 ENSG00000042445 Retsat (MGI:1914692) -chr2 85354393 85391751 2p11.3 2p11.2 615427 ELMOD3, RBED1, DFNB88, DFNA81 ELMO/CED12 domain-containing protein 3 ELMOD3 84173 ENSG00000115459 mutation identified in 1 DFNB88 and 1 DFNA81 family ?Deafness, autosomal recessive 88, 615429 (3), Autosomal recessive; ?Deafness, autosomal dominant 81, 619500 (3), Autosomal dominant Elmod3 (MGI:2445168) -chr2 85394752 85418466 2p11.2 2p11.2 153615 CAPG Capping protein, gelsolin-like CAPG 822 ENSG00000042493 Capg (MGI:1098259) -chr2 85537466 85538885 2p11.2 2p11.2 616350 PARTICL Promoter of MAT2A antisense radiation-induced circulating long noncoding RNA PARTICL 100630918 ENSG00000286532 overlaps promoter of MAT2A on opposite strand -chr2 85539167 85545280 2p11.2 2p11.2 601468 MAT2A, MATA2, SAMS2 Methionine adenosyltransferase II, alpha MAT2A 4144 ENSG00000168906 Mat2a (MGI:2443731) -chr2 85544719 85561526 2p12 2p11.2 137167 GGCX, VKCFD1 Gamma-glutamyl carboxylase GGCX 2677 ENSG00000115486 Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3), Autosomal recessive; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) Ggcx (MGI:1927655) -chr2 85577534 85582030 2p12-p11.2 2p11.2 603177 VAMP8 Vesicle-associated membrane protein 8 VAMP8 8673 ENSG00000118640 Vamp8 (MGI:1336882) -chr2 85584430 85593405 2p11.2 2p11.2 607029 VAMP5 Vesicle-associated membrane protein 5 (myobrevin) VAMP5 10791 ENSG00000168899 Vamp5 (MGI:1858622) -chr2 85593822 85597707 2p11.2 2p11.2 612490 RNF181 Ring finger protein 181 RNF181 51255 ENSG00000168894 Rnf181 (MGI:1913760) -chr2 85598546 85602697 2p11.2 2p11.2 616757 TMEM150A, TMEM150 Transmembrane protein 150A TMEM150A 129303 ENSG00000168890 Tmem150a (MGI:2385244) -chr2 85602842 85649282 2p11.2 2p11.2 611594 USP39, SAD1 Ubiquitin-specific protease 39 USP39 10713 ENSG00000168883 Usp39 (MGI:107622) -chr2 85605253 85612065 2p11.2 2p11.2 618519 C2orf68, HCRCN81 Chromosome 2 open reading frame 68 C2orf68 388969 ENSG00000168887 0610030E20Rik (MGI:1915614) -chr2 85657306 85668740 2p12-p11.2 2p11.2 178640 SFTPB, SFTB3, SMDP1 Pulmonary surfactant-associated protein B, 18kD SFTPB 6439 ENSG00000168878 Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3), Autosomal recessive Sftpb (MGI:109516) -chr2 85694293 85698853 2p12-q11 2p11.2 188855 GNLY, D2S69E, TLA519 Granulysin (T-lymphocyte activation gene 519) GNLY 10578 ENSG00000115523 -chr2 85837119 85889033 2p11.2 2p11.2 604402 SIAT9, ST3GALV, SPDRS Sialyltransferase 9 ST3GAL5 8869 ENSG00000115525 Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive St3gal5 (MGI:1339963) -chr2 86020215 86105885 2p11.2 2p11.2 616404 POLR1A, RPA194, AFDCIN Polymerase I, RNA, subunit A POLR1A 25885 ENSG00000068654 Acrofacial dysostosis, Cincinnati type, 616462 (3), Autosomal dominant Polr1a (MGI:1096397) -chr2 86106234 86142156 2p11.2 2p11.2 614918 PTCD3, COXPD51 Pentatricopeptide repeat domain-containing protein 3 PTCD3 55037 ENSG00000132300 mutation identified in 1 COXPD51 patient ?Combined oxidative phosphorylation deficiency 51, 619057 (3), Autosomal recessive Ptcd3 (MGI:1917206) -chr2 86143931 86195462 2p11.2 2p11.2 600378 IMMT, HMP Inner membrane protein, mitochondrial (mitofilin) IMMT 10989 ENSG00000132305 pseudogene on chr.21 Immt (MGI:1923864) -chr2 86199432 86213793 2p11.2 2p11.2 611841 MRPL35 Mitochondrial ribosomal protein L35 MRPL35 51318 ENSG00000132313 pseudogenes on 6, 10, and X Mrpl35 (MGI:1913473) -chr2 86213992 86338082 2p11.2 2p11.2 609139 REEP1, C2orf23, SPG31, HMN5B Receptor expression-enhancing protein 1 REEP1 65055 ENSG00000068615 mutation identified in 1 HMN5B family ?Neuronopathy, distal hereditary motor, type VB, 614751 (3), Autosomal dominant; Spastic paraplegia 31, autosomal dominant, 610250 (3), Autosomal dominant Reep1 (MGI:1098827) -chr2 86440646 86492715 2p11.2 2p11.2 611512 KDM3A, JMJD1A, JHDM2A, TSGA, KIAA0742 Lysine demethylase 3A KDM3A 55818 ENSG00000115548 Kdm3a (MGI:98847) -chr2 86503429 86563442 2p24 2p11.2 610052 CHMP3, VPS24, NEDF Charged multivesicular body protein 3 CHMP3 51652 ENSG00000115561 Chmp3 (MGI:1913950) -chr2 86603392 86623876 2p11.2 2p11.2 602507 ZFP103, KF1 Zinc finger protein 103, mouse, homolog of RNF103 7844 ENSG00000239305 Rnf103 (MGI:109483) -chr2 86720290 86778040 2p11.2 2p11.2 618964 RMND5A, RMD5, GID2 Required for meiotic nuclear division 5 homolog A RMND5A 64795 ENSG00000153561 Rmnd5a (MGI:1915727) -chr2 86784604 86808395 2p12 2p11.2 186910 CD8A CD8 antigen, alpha polypeptide (p32) CD8A 925 ENSG00000153563 distal to IGK CD8 deficiency, familial, 608957 (3), Autosomal recessive Cd8a (MGI:88346) -chr2 86815368 86861885 2p12 2p11.2 186730 CD8B1, CD8B CD8 antigen, beta polypeptide 1 (p37) CD8B 926 ENSG00000172116 pseudogene, CD8B2, on 2q12 Cd8b1 (MGI:88347) -chr2 86913576 87013975 2p11.2 2p11.2 612704 RGPD1, RGP1 RANBP2-like and GRIP domain-containing protein 1 RGPD1 400966 ENSG00000187627 Ranbp2 (MGI:894323) -chr2 87010223 87021843 2p11-q11 2p11.2 173340 PLGLB1, PLGL, PRGB Plasminogen-like B1 PLGLB1 5343 ENSG00000183281 -chr2 87755959 87992818 2p11.2 2p11.2 612705 RGPD2, RGP2 RANBP2-like and GRIP domain-containing protein 2 RGPD2 729857 ENSG00000185304 Ranbp2 (MGI:894323) -chr2 88067824 88113383 2p11.2 2p11.2 606846 SMYD1, BOP, ZMYND18 SET and MYND domain-containing protein 1 SMYD1 150572 ENSG00000115593 Smyd1 (MGI:104790) -chr2 88122981 88128061 2p11 2p11.2 134650 FABP1 Fatty acid-binding protein, liver FABP1 2168 ENSG00000163586 Fabp1 (MGI:95479) -chr2 88170345 88186630 2p11.2 2p11.2 611261 THNSL2, THS2 Threonine synthase-like 2 THNSL2 55258 ENSG00000144115 Thnsl2 (MGI:3041254) -chr2 88446786 88452692 2p11.2 2p11.2 612351 FOXI3 Forkhead box I3 FOXI3 344167 ENSG00000214336 Foxi3 (MGI:3511278) -chr2 88556740 88627463 2p12 2p11.2 604032 EIF2AK3, PEK, PERK, WRS Eukaryotic translation initiation factor 2-alpha kinase 3 EIF2AK3 9451 ENSG00000172071 Wolcott-Rallison syndrome, 226980 (3), Autosomal recessive Eif2ak3 (MGI:1341830) -chr2 88691672 88750928 2p11.2 2p11.2 180430 RPIA, RPI, RPIAD Ribose 5-phosphate isomerase A RPIA 22934 ENSG00000153574 Ribose 5-phosphate isomerase deficiency, 608611 (3), Autosomal recessive Rpia (MGI:103254) -chr2 88832221 88833330 2p12 2p11.2 146780 IGKDEL Immunoglobulin kappa polypeptide deleting element IGKDEL 3515 -chr2 88857360 88857682 2p12 2p11.2 147200 IGKC, IGKCD Immunoglobulin kappa constant region IGKC 3514 ENSG00000211592 Kappa light chain deficiency, 614102 (3), Autosomal recessive Igkc (MGI:96495) -chr2 93900000 242193529 2q 606963 COPD Pulmonary disease, chronic obstructive, severe early-onset 260431 ?SERPINE2 Pulmonary disease, chronic obstructive, severe early-onset, 606963 (2) -chr2 93900000 112200000 2cen-q13 606689 GLC1B Glaucoma 1, open angle, B (adult-onset) 2722 Glaucoma 1B, primary open angle, adult onset, 606689 (2) -chr2 95025707 95053991 2cen-q13 2q11.1 188860 MAL T-lymphocyte maturation-associated protein MAL 4118 ENSG00000172005 Mal (MGI:892970) -chr2 95085368 95122002 2p11.2-q11.2 2q11.1 611972 MRPS5 Mitochondrial ribosomal protein S5 MRPS5 64969 ENSG00000144029 Mrps5 (MGI:1924971) -chr2 95165808 95184316 2q11.2 2q11.1 194500 ZNF2 Zinc finger protein-2 ZNF2 7549 ENSG00000275111 Zfp661 (MGI:1919430) -chr2 95274448 95291319 2q11.1 2q11.1 617160 PROM2, PROML2 Prominin 2 PROM2 150696 ENSG00000155066 Prom2 (MGI:2138997) -chr2 95297324 95386076 2q11.1 2q11.1 604662 KCNIP3, KCHIP3, CSEN, DREAM Potassium channel-interacting protein 3 KCNIP3 30818 ENSG00000115041 Kcnip3 (MGI:1929258) -chr2 96000000 108700000 2q11-q12 612006 CELIAC8 Celiac disease, susceptibility to, 8 100188870 associated with rs917997 and rs13015714 {Celiac disease, susceptibility to, 8}, 612006 (2) -chr2 96000000 129100000 2q11-q14 611897 NNO3 Nanophthalmos 3 100187717 max lod at D2S2265 Nanophthalmos 3, 611897 (2) -chr2 96021945 96036264 2q11.2 2q11.2 616431 GPAT2 Glycerol-3-phosphate acyltransferase 2, mitochondrial GPAT2 150763 ENSG00000186281 Gpat2 (MGI:2684962) -chr2 96112875 96116570 2q11.2 2q11.2 104260 ADRA2B, ADRA2L1 Adrenergic, alpha-2B-, receptor ADRA2B 151 ENSG00000274286 Adra2b (MGI:87935) -chr2 96122816 96143058 2q11.2 2q11.2 608860 ASTL Astacin-like metalloendopeptidase ASTL 431705 ENSG00000188886 Astl (MGI:3046414) -chr2 96143165 96145467 2q11 2q11.2 603068 DUSP2, PAC1 Dual-specificity phosphatase-2 DUSP2 1844 ENSG00000158050 Dusp2 (MGI:101911) -chr2 96184858 96208826 2q11.2 2q11.2 616712 STARD7, GTT1, FAME2 START domain-containing protein 4 STARD7 56910 ENSG00000084090 Epilepsy, familial adult myoclonic, 2, 607876 (3), Autosomal dominant Stard7 (MGI:2139090) -chr2 96248513 96265996 2q11 2q11.2 613403 TMEM127 Transmembrane protein 127 TMEM127 55654 ENSG00000135956 {Pheochromocytoma, susceptibility to}, 171300 (3), Autosomal dominant Tmem127 (MGI:1916720) -chr2 96266158 96274172 2q11.2 2q11.2 604333 CIAO1, WDR39 WD repeat-containing protein CIAO1 CIAO1 9391 ENSG00000144021 Ciao1 (MGI:1346998) -chr2 96274337 96305545 2q11.2 2q11.2 601664 SNRNP200, ASCC3L1, KIAA0788, RP33 Small nuclear ribonucleoprotein 200kD (U5) SNRNP200 23020 ENSG00000144028 Retinitis pigmentosa 33, 610359 (3), Autosomal dominant Snrnp200 (MGI:2444401) -chr2 96335765 96377090 2q11.2 2q11.2 602332 NCAPH, CAPH, BRRN1, MCPH23 Non-SMC condensin I complex subunit H NCAPH 23397 ENSG00000121152 mutation identified in 1 MCPH23 patient ?Microcephaly 23, primary, autosomal recessive, 617985 (3), Autosomal recessive Ncaph (MGI:2444777) -chr2 96497642 96508156 2p11 2q11.2 617206 NEURL3, LINCR Neuralized E3 ubiquitin protein ligase 3 NEURL3 93082 ENSG00000163121 Neurl3 (MGI:2429944) -chr2 96536751 96552637 2q11.2 2q11.2 611583 ARID5A, MRF1 AT-rich interactive domain-containing protein 5A ARID5A 10865 ENSG00000196843 Arid5a (MGI:2443039) -chr2 96593169 96638377 2q11.2 2q11.2 617742 KANSL3, NSL3, KIAA1310 Kat8 regulatory NSL complex, subunit 3 KANSL3 55683 ENSG00000114982 Kansl3 (MGI:1918055) -chr2 96705928 96740071 2q11.2 2q11.2 609552 LMAN2L, VIPL, MRT52 LMAN2-like protein LMAN2L 81562 ENSG00000114988 mutation identified in 1 MRT52 family ?Mental retardation, autosomal recessive, 52, 616887 (3), Autosomal recessive Lman2l (MGI:2443010) -chr2 96760901 96811887 2q11.2 2q11.2 607805 CNNM4, ACDP4 Cyclin M4 CNNM4 26504 ENSG00000158158 Jalili syndrome, 217080 (3), Autosomal recessive Cnnm4 (MGI:2151060) -chr2 96814945 96837108 2q11.2 2q11.2 607804 CNNM3, ACDP3 Cyclin M3 CNNM3 26505 ENSG00000168763 previously assigned to 2p12-p11.2 Cnnm3 (MGI:2151055) -chr2 96837911 96844020 2p11.2-q11.1 2q11.2 610736 ANKRD23, DARP Ankyrin repeat domain-containing protein 23 ANKRD23 200539 ENSG00000163126 Ankrd23 (MGI:1925571) -chr2 96859717 96870942 5p15.3 2q11.2 604462 SEMA4C, SEMAF, KIAA1739 Semaphorin 4C SEMA4C 54910 ENSG00000168758 Sema4c (MGI:109252) -chr2 97646061 97648382 2cen-q13 2q11.2 123866 COX5B Cytochrome c oxidase, subunit Vb COX5B 1329 ENSG00000135940 7 pseudogenes on 4, 6, 7, 11, 12, 13, and 22 Cox5b (MGI:88475) -chr2 97655938 97664043 2q11.1-q11.2 2q11.2 605144 ACTR1B, ARP1B, CTRN2 Actin-related protein 1B ACTR1B 10120 ENSG00000115073 Actr1b (MGI:1917446) -chr2 97712029 97744326 2q12 2q11.2 176947 ZAP70, SRK, ADMIO2, IMD48 Zeta-chain associated protein kinase, 70kD (syk-related tyrosine kinase) ZAP70 7535 ENSG00000115085 Immunodeficiency 48, 269840 (3), Autosomal recessive; Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3), Autosomal recessive Zap70 (MGI:99613) -chr2 97756335 97996181 2q11.2 2q11.2 615659 TMEM131, KIAA0257, CC28 Transmembrane protein 131 TMEM131 23505 ENSG00000075568 Tmem131 (MGI:1927110) -chr2 98087166 98330681 2q11.2 2q11.2 614884 VWA3B, SCAR22 von Willebrand factor A domain-containing protein 3B VWA3B 200403 ENSG00000168658 mutation identified in 1 SCAR22 family ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3), Autosomal recessive Vwa3b (MGI:1918103) -chr2 98346180 98399153 2q11 2q11.2 600053 CNGA3, CNG3, ACHM2 Cyclic nucleotide-gated channel, alpha-3 CNGA3 1261 ENSG00000144191 Achromatopsia 2, 216900 (3), Autosomal recessive Cnga3 (MGI:1341818) -chr2 98444537 98594391 2q11.2 2q11.2 600916 INPP4A, INPP4 Inositol polyphosphate-4-phosphatase, type I, 107kD INPP4A 3631 ENSG00000040933 Inpp4a (MGI:1931123) -chr2 98599313 98608511 2q11.2 2q11.2 613920 COA5, C2orf64, PET191, MC4DN9 Cytochrome c oxidase assembly factor 5 COA5 493753 ENSG00000183513 mutation identified in 1 MC4DN9 family ?Mitochondrial complex IV, deficiency, nuclear type 9, 616500 (3), Autosomal recessive Coa5 (MGI:1923428) -chr2 98608588 98618514 2q11.2 2q11.2 617826 UNC50, UNCL, GMH1 Unc50 inner nuclear membrane RNA-binding protein UNC50 25972 ENSG00000115446 Unc50 (MGI:1914637) -chr2 98619105 98731131 2q12 2q11.2 604623 MGAT4A Alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A MGAT4A 11320 ENSG00000071073 Mgat4a (MGI:2662992) -chr2 98997260 99154965 2q11.2 2q11.2 607166 TSGA10, SPGF26 Testis-specific protein 10 TSGA10 80705 ENSG00000135951 mutation identified in 1 SPGF26 ?Spermatogenic failure 26, 617961 (3), Autosomal recessive Tsga10 (MGI:2685063) -chr2 99154966 99163136 2q11.2 2q11.2 610284 LIPT1, LIPT1D Lipoyltransferase 1 LIPT1 51601 ENSG00000144182 Lipoyltransferase 1 deficiency, 616299 (3), Autosomal recessive Lipt1 (MGI:3645211) -chr2 99181183 99199560 2q11.2 2q11.2 611838 MRPL30, MRPL28 Mitochondrial ribosomal protein L30 MRPL30 51263 ENSG00000185414 Mrpl30 (MGI:1333820) -chr2 99242245 99260014 2q11.2 2q11.2 616547 LYG2, LYSG2 Lysozyme G-like 2 LYG2 254773 ENSG00000185674 Lyg2 (MGI:2685622) -chr2 99306183 99336384 2q11.2 2q11.2 612564 TXNDC9, PHLP3 Thioredoxin domain-containing protein 9 TXNDC9 10190 ENSG00000115514 Txndc9 (MGI:2138153) -chr2 99337388 99401325 2q11.2 2q11.2 606086 EIF5B, IF2, KIAA0741 Eukaryotic translation initiation factor 5B EIF5B 9669 ENSG00000158417 Eif5b (MGI:2441772) -chr2 99400476 99490122 2q11.2 2q11.2 606134 REV1L, REV1 REV1 DNA directed polymerase REV1 51455 ENSG00000135945 Rev1 (MGI:1929074) -chr2 99545418 100142589 2q11.2 2q11.2 601464 AFF3, LAF4, KINS AF4/FMR2 family, member 3 AFF3 3899 ENSG00000144218 KINSSHIP syndrome, 619297 (3), Autosomal dominant Aff3 (MGI:106927) -chr2 100391859 100417667 2q11.2 2q11.2 606376 CHST10, HNK1ST Carbohydrate sulfotransferase 10 CHST10 9486 ENSG00000115526 Chst10 (MGI:2138283) -chr2 100470481 100483279 2q11.2 2q11.2 619337 NMS Neuromedin S NMS 129521 ENSG00000204640 Nms (MGI:3583618) -chr2 100562992 100577471 2q11.2 2q11.2 611678 PDCL3, PHLP3, VIAF Phosducin-like 3 PDCL3 79031 ENSG00000115539 Pdcl3 (MGI:1916083) -chr2 100820138 100996828 2q13 2q11.2 603347 NPAS2, MOP4 Neuronal PAS domain protein 2 NPAS2 4862 ENSG00000170485 Npas2 (MGI:109232) -chr2 101002288 101019723 2q11.2 2q11.2 617415 RPL31 Ribosomal protein L31 RPL31 6160 ENSG00000071082 Rpl31,Rpl31-ps8 (MGI:3647726,MGI:2149632) -chr2 101345549 101387969 2q11.2 2q11.2 618540 CREG2 Cellular repressor of E1A-stimulated genes 2 CREG2 200407 ENSG00000175874 Creg2 (MGI:1928333) -chr2 101697706 101894689 2q11.2 2q11.2 604666 MAP4K4, HGK, NIK, KIAA0687 Mitogen-activated protein kinase kinase kinase kinase 4 MAP4K4 9448 ENSG00000071054 Map4k4 (MGI:1349394) -chr2 101991804 102028543 2q12-q22 2q11.2 147811 IL1R2, IL1RB Interleukin-1 receptor, type II IL1R2 7850 ENSG00000115590 Il1r2 (MGI:96546) -chr2 102069637 102179873 2q12 2q11.2-q12.1 147810 IL1R1, IL1RA Interleukin-1 receptor, type I IL1R1 3554 ENSG00000115594 Il1r1 (MGI:96545) -chr2 102100000 105300000 2q12.1 617071 LNC13 Long noncoding RNA 13 -chr2 102186972 102242909 2q12 2q12.1 604512 IL1RL2, IL1RRP2 Interleukin 1 receptor-like 2 IL1RL2 8808 ENSG00000115598 Il1rl2 (MGI:1913107) -chr2 102311528 102352366 2q11.2 2q12.1 601203 IL1RL1 Interleukin 1 receptor-like 1 IL1RL1 9173 ENSG00000115602 Il1rl1 (MGI:98427) -chr2 102355795 102398776 2q12 2q12.1 604494 IL18R1, IL1RRP Interleukin 18 receptor 1 IL18R1 8809 ENSG00000115604 Il18r1 (MGI:105383) -chr2 102418549 102452567 2q12 2q12.1 604509 IL18RAP, ACPL Interleukin 18 receptor accessory protein IL18RAP 8807 ENSG00000115607 Il18rap (MGI:1338888) -chr2 102473225 102533973 2q12.1 2q12.1 600531 SLC9A4, NHE4 Solute carrier family 9 (sodium/hydrogen exchanger), member 4 SLC9A4 389015 ENSG00000180251 Slc9a4 (MGI:105074) -chr2 102619552 102711354 2q11.2 2q12.1 600530 SLC9A2 Solute carrier family 9 (sodium/hydrogen exchanger), member 2 SLC9A2 6549 ENSG00000115616 Slc9a2 (MGI:105075) -chr2 104805424 104853182 2q12.1 2q12.1 618169 PANTR1, LINC01158 POU3F3-adjacent noncoding transcript 1 PANTR1 100506421 ENSG00000233639 Pantr1 (MGI:1913547) -chr2 104854114 104858573 2q12.1 2q12.1 602480 POU3F3, SNIBFIS POU domain, class 3, transcription factor-3 POU3F3 5455 ENSG00000198914 Snijders Blok-Fisher syndrome, 618604 (3), Autosomal dominant Pou3f3 (MGI:102564) -chr2 104865496 104872594 2q12.1 2q12.1 618208 LINC01159, LINC-BRN1B Long intergenic noncoding RNA 1159 LINC01159 102682016 ENSG00000229743 -chr2 105037468 105099959 2q12.1 2q12.1 611975 MRPS9 Mitochondrial ribosomal protein S9 MRPS9 64965 ENSG00000135972 Mrps9 (MGI:1916777) -chr2 105241742 105243466 2q11.2-q12 2q12.1 604838 GPR45 G protein-coupled receptor 45 GPR45 11250 ENSG00000135973 Gpr45 (MGI:2135882) -chr2 105249403 105329734 2q12.1 2q12.1-q12.2 606237 TGFBRAP1, TRAP1 Transforming growth factor-beta receptor-associated protein 1 TGFBRAP1 9392 ENSG00000135966 Tgfbrap1 (MGI:2447427) -chr2 105357711 105438528 2q12-q14 2q12.2 602633 FHL2, DRAL Four and a half LIM domains-2 (Down-regulated in rhabdomyosarcoma LIM protein) FHL2 2274 ENSG00000115641 Fhl2 (MGI:1338762) -chr2 105744648 105894273 2q12 2q12.2 604930 NCK2 NCK adaptor protein 2 NCK2 8440 ENSG00000071051 Nck2 (MGI:1306821) -chr2 106063289 106078154 2q14.1-q14.3 2q12.2 611752 ECRG4, C2orf40 ECRG4 augurin precursor ECRG4 84417 ENSG00000119147 Ecrg4 (MGI:1926146) -chr2 106093302 106194335 2q12 2q12.2 609749 UXS1, UGD UDP-glucuronate decarboxylase 1 UXS1 80146 ENSG00000115652 Uxs1 (MGI:1915133) -chr2 106382113 106391394 2q12.2 2q12.2 612212 PLGLA, PRGA Plasminogen-like A PLGLA 285189 ENSG00000240935 -chr2 106403405 106470934 2q12.3-q13 2q12.2 612706 RGPD3, RGP3 RANBP2-like and GRIP domain-containing protein 3 RGPD3 653489 ENSG00000153165 Ranbp2 (MGI:894323) -chr2 106700000 129100000 2q12-q14 147185 IGKV1OR2-108, IGO1 Immunoglobulin orphon (transposed element) 1 IGKV1OR2-108 28862 -chr2 106700000 112200000 2q12.3-q13 612710 RGPD7, RGP7 RANBP2-like and GRIP domain-containing protein 7 -chr2 106801599 106887409 2q11.2-q12.1 2q12.3 608472 ST6GALII, KIAA1877 Beta-galactoside alpha-2,6-sialyltransferase II ST6GAL2 84620 ENSG00000144057 St6gal2 (MGI:2445190) -chr2 107826891 107892543 2q12.3-q13 2q12.3 612707 RGPD4, RGP4 RANBP2-like and GRIP domain-containing protein 4 RGPD4 285190 ENSG00000196862 Ranbp2 (MGI:894323) -chr2 107986523 108014496 2q12.3 2q12.3 608761 SLC5A7, CHT1, HMN7A, CMS20 Solute carrier family 5 (choline transporter), member 7 SLC5A7 60482 ENSG00000115665 Neuronopathy, distal hereditary motor, type VIIA, 158580 (3), Autosomal dominant; Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive Slc5a7 (MGI:1927126) -chr2 108239967 108265607 2q12.2 2q12.3 617151 SULT1C3 Sulfotransferase family 1C, member 3 SULT1C3 442038 ENSG00000196228 Sult1c1 (MGI:102928) -chr2 108288894 108309914 2q11.1-q11.2 2q12.3 602385 SULT1C1 Sulfotransferase 1C1 SULT1C2 6819 ENSG00000198203 Sult1c2 (MGI:1916333) -chr2 108377953 108388988 2q11.2 2q12.3 608357 SULT1C2 Sulfotransferase family 1C, member 2 SULT1C4 27233 ENSG00000198075 Sult1c1 (MGI:102928) -chr2 108448560 108509414 2q12.3 2q12.3 612711 GCC2, GCC185, KIAA0336 GRIP and coiled-coil domains-containing protein 2 GCC2 9648 ENSG00000135968 Gcc2 (MGI:1917547) -chr2 108533670 108687245 2q12.3 2q12.3 602567 LIMS1, PINCH1 LIM zinc finger-containing protein 1 LIMS1 3987 ENSG00000169756 Lims1 (MGI:1195263) -chr2 108700000 112200000 2q13 257550 COMA Cogan-type congenital oculomotor apraxia 266710 independent gene or feature of nephronophthisis Oculomotor apraxia, congenital, Cogan-type, 257550 (2), Autosomal recessive -chr2 108719445 108785808 2q11-q13 2q13 601181 RANBP2, NUP358, ANE1, IIAE3 RAN-binding protein 2 RANBP2 5903 ENSG00000153201 {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3), Autosomal dominant Ranbp2 (MGI:894323) -chr2 108894470 108989255 2q11-q13 2q13 604095 EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B Ectodysplasin 1, anhidrotic receptor (downless, mouse, homolog of) EDAR 10913 ENSG00000135960 [Hair morphology 1, hair thickness], 612630 (3); Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3), Autosomal dominant; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3), Autosomal recessive Edar (MGI:1343498) -chr2 109129204 109504634 2q13 2q13 618933 SH3RF3, POSH2 SH3 domain-containing RING finger protein 3 SH3RF3 344558 ENSG00000172985 Sh3rf3 (MGI:2444637) -chr2 109542796 109614204 2q13 2q13 611737 SEPT10 Septin 10 SEPTIN10 151011 ENSG00000186522 pseudogene on 8q22.1-q12 Septin10 (MGI:1918110) -chr2 109760593 109857704 2q12.3-q13 2q13 612708 RGPD5, RGP5, BS63 RANBP2-like and GRIP domain-containing protein 5 RGPD5 84220 ENSG00000015568 -chr2 110083869 110118138 2q13 2q13 602022 MALL, BENE mal, T-cell differentiation protein-like MALL 7851 ENSG00000144063 Mall (MGI:2385152) -chr2 110123347 110205012 2q13 2q13 607100 NPHP1, NPH1, SLSN1, JBTS4 Nephrocystin NPHP1 4867 ENSG00000144061 Joubert syndrome 4, 609583 (3), Autosomal recessive; Nephronophthisis 1, juvenile, 256100 (3), Autosomal recessive; Senior-Loken syndrome-1, 266900 (3), Autosomal recessive Nphp1 (MGI:1858233) -chr2 110513801 110611055 2q12.3-q13 2q13 612709 RGPD6, RGP6 RANBP2-like and GRIP domain-containing protein 6 RGPD6 729540 ENSG00000183054 Ranbp2 (MGI:894323) -chr2 110637527 110678062 2q14 2q13 602452 BUB1 BUB1 mitotic checkpoint serine/threonine kinase BUB1 699 ENSG00000169679 Colorectal cancer with chromosomal instability, somatic, 114500 (3) Bub1 (MGI:1100510) -chr2 111120913 111168444 2q13 2q13 603827 BCL2L11, BIM BCL2-like 11 BCL2L11 10018 ENSG00000153094 Bcl2l11 (MGI:1197519) -chr2 111195865 111495160 2q13 2q13 617144 MIR4435-2HG, MORRBID MIR4435-2 host gene (long noncoding RNA MORRBID) MIR4435-2HG 541471 ENSG00000172965 Morrbid (MGI:3652191) -chr2 111766149 111884195 2q13 2q13 608473 ANAPC1, APC1 Anaphase-promoting complex, subunit 1 ANAPC1 64682 ENSG00000153107 Rothmund-Thomson syndrome, type 1, 618625 (3), Autosomal recessive Anapc1 (MGI:103097) -chr2 111898606 112029560 2q14.1 2q13 604705 MERTK, RP38 Mer tyrosine kinase protooncogene MERTK 10461 ENSG00000153208 Retinitis pigmentosa 38, 613862 (3), Autosomal recessive Mertk (MGI:96965) -chr2 112055265 112119313 2q13 2q13 617203 TMEM87B Transmembrane protein 87B TMEM87B 84910 ENSG00000153214 Tmem87b (MGI:1919727) -chr2 112138384 112254557 2q13 2q-q 611551 FBLN7, TM14 Fibulin 7 FBLN7 129804 ENSG00000144152 Fbln7 (MGI:1917620) -chr2 112200000 118100000 2q14.1 612459 BMIQ13 Body mass index quantitative trait locus 13 100233157 associated with rs7566605 [Body mass index QTL13], 612459 (2) -chr2 112368368 112433644 2q12.3-q13 2q14.1 602752 RGPD8, RGP8, RANBP2L1 RANBP2-like and GRIP domain-containing protein 8 RGPD8 727851 ENSG00000169629 Ranbp2 (MGI:894323) -chr2 112482126 112541738 2q13 2q14.1 608291 TTL Tubulin-tyrosine ligase TTL 150465 ENSG00000114999 Ttl (MGI:1916987) -chr2 112542035 112579817 2q14.1 2q14.1 602000 POLR1B, TCS4 Polymerase I, RNA, subunit B POLR1B 84172 ENSG00000125630 Treacher-Collins syndrome 4, 618939 (3), Autosomal dominant Polr1b (MGI:108014) -chr2 112584446 112589039 2q14.1 2q14.1 616978 CHCHD5, MIC14 Coiled coil-helix-coiled coil-helix domain-containing protein 5 CHCHD5 84269 ENSG00000125611 Chchd5 (MGI:1913420) -chr2 112645937 112663824 2q11-q14 2q14.1 137570 SLC20A1, GLVR1 Solute carrier family 20, phosphate transporter, member 1 (Gibbon ape leukemia virus receptor-1) SLC20A1 6574 ENSG00000144136 Slc20a1 (MGI:108392) -chr2 112736348 112764616 2q13 2q14.1 616174 CKAP2L, RADMIS Cytoskeleton-associated protein 2-like CKAP2L 150468 ENSG00000169607 Filippi syndrome, 272440 (3), Autosomal recessive Ckap2l (MGI:1917716) -chr2 112773924 112784492 2q14 2q14.1 147760 IL1A Interleukin-1, alpha IL1A 3552 ENSG00000115008 within 430kb of IL1B, IL1RN Il1a (MGI:96542) -chr2 112829750 112836842 2q14 2q14.1 147720 IL1B Interleukin-1, beta IL1B 3553 ENSG00000125538 within 430kb of IL1RN, IL1A {Gastric cancer risk after H. pylori infection}, 137215 (3), Autosomal dominant Il1b (MGI:96543) -chr2 112911164 112918881 2q12.1 2q14.1 605510 IL37, IL1F7, FIL1Z, IL1H4, IL1RP1, IBD31 Interleukin 37 IL37 27178 ENSG00000125571 mutation identified in 1 IBD31 patient ?Inflammatory bowel disease (infantile ulcerative colitis) 31, 619398 (3), Autosomal recessive -chr2 112978005 112985657 2q13 2q14.1 605542 IL36G, IL1F9, IL1H1, IL1RP2 Interleukin 36, gamma IL36G 56300 ENSG00000136688 Il36g (MGI:2449929) -chr2 113005458 113011070 2q13 2q14.1 605509 IL36A, IL1F6, FIL1E Interleukin 36, alpha IL36A 27179 ENSG00000136694 Il36a (MGI:1859324) -chr2 113022088 113052866 2q13 2q14.1 605508 IL36B, IL1F8, IL1H2, FIL1H Interleukin 36, beta IL36B 27177 ENSG00000136696 Il36b (MGI:1916927) -chr2 113058637 113064743 2q13 2q14.1 605507 IL36RN, IL1F5, FIL1D, IL1HY1, IL1RP3, PSORP, PSORS14 Interleukin 36 receptor antagonist IL36RN 26525 ENSG00000136695 Psoriasis 14, pustular, 614204 (3), Autosomal recessive Il36rn (MGI:1859325) -chr2 113067969 113075842 2q14 2q14.1 615296 IL1F10, IL1HY2 Interleukin 1 family, member 10 IL1F10 84639 ENSG00000136697 Il1f10 (MGI:2652548) -chr2 113099364 113134015 2q14.2 2q14.1 147679 IL1RN, MVCD4, DIRA Interleukin-1 receptor antagonist IL1RN 3557 ENSG00000136689 {Gastric cancer risk after H. pylori infection}, 137215 (3), Autosomal dominant; {Microvascular complications of diabetes 4}, 612628 (3); Interleukin 1 receptor antagonist deficiency, 612852 (3), Autosomal recessive Il1rn (MGI:96547) -chr2 113157398 113209390 2q13 2q14.1 614442 PSD4, EFA6B, TIC Pleckstrin and Sec7 domains-containing protein 4 PSD4 23550 ENSG00000125637 Psd4 (MGI:2674093) -chr2 113215996 113278920 2q12-q14 2q14.1 167415 PAX8 Paired box homeotic gene-8 PAX8 7849 ENSG00000125618 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3), Autosomal dominant Pax8 (MGI:97492) -chr2 113437690 113496203 2q13-q14.1 2q14.1 611079 CBWD2 Cobalamin synthetase W domain-containing protein 2 CBWD2 150472 ENSG00000136682 Cbwd1 (MGI:2385089) -chr2 113499083 113501149 2q13-q14.1 2q14.1 611084 FOXD4L1 Forkhead box D4-like 1 FOXD4L1 200350 ENSG00000184492 Foxd4 (MGI:1347467) -chr2 113627217 113643391 2q13 2q14.1 605412 RABL2A RAB-like 2A RABL2A 11159 ENSG00000144134 Rabl2 (MGI:1915958) -chr2 113889933 113962595 2q14.1 2q14.1 604222 ACTR3, ARP3 Actin-related protein 3 ACTR3 10096 ENSG00000115091 Actr3 (MGI:1921367) -chr2 114442640 115845779 2q12.3-q14.2 2q14.1 608209 DPP10, DPRP3, KIAA1492 Dipeptidyl peptidase X DPP10 57628 ENSG00000175497 Dpp10 (MGI:2442409) -chr2 117814690 117832376 2q14.1 2q14.1 606355 DDX18 DEAD-box helicase 18 DDX18 8886 ENSG00000088205 Ddx18 (MGI:1914192) -chr2 118088470 118110996 2q14.1 2q14.1-q14.2 608660 INSIG2 Insulin-induced gene 2 INSIG2 51141 ENSG00000125629 Insig2 (MGI:1920249) -chr2 118182921 118186385 2q14.2 2q14.2 619296 THORLNC Testis-associated oncogenic long noncoding RNA THORLNC 100506797 ENSG00000226856 -chr2 118842170 118847647 2q14.2 2q14.2 131290 EN1, ENDOVESLB Engrailed-1 EN1 2019 ENSG00000163064 mutation identified in 1 ENDOVESLB patient ?ENDOVE syndrome, limb-brain type, 619218 (3), Autosomal recessive En1 (MGI:95389) -chr2 118942179 118994663 2q12-q13 2q14.2 604870 MARCO Macrophage receptor with collagenous structure MARCO 8685 ENSG00000019169 Marco (MGI:1309998) -chr2 119156242 119158750 2q14.2 2q14.2 614330 C1QL2, CTRP10, C1QTNF10 Complement component 1, q subcomponent-like 2 C1QL2 165257 ENSG00000144119 C1ql2 (MGI:3032521) -chr2 119222475 119265651 2q14.2 2q14.2 609671 STEAP3, TSAP6, AHMIO2 STEAP3 metalloreductase STEAP3 55240 ENSG00000115107 mutation identified in 1 AHMIO2 family ?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3), Autosomal dominant Steap3 (MGI:1915678) -chr2 119366976 119372542 2q12-q21 2q14.2 125950 DBI Diazepam-binding inhibitor DBI 1622 ENSG00000155368 ?on 6q21-qter Dbi (MGI:94865) -chr2 119429911 119438506 2q14.1 2q14.2 618831 TMEM37 Transmembrane protein 37 TMEM37 140738 ENSG00000171227 Tmem37 (MGI:2157899) -chr2 119439842 119524482 2q14.1 2q14.2 182098 SCTR Secretin receptor SCTR 6344 ENSG00000080293 Sctr (MGI:2441720) -chr2 119544391 119660320 2q14.2 2q14.2 618704 CFAP221, PCDP1 Cilia- and flagella-associated protein 221 CFAP221 200373 ENSG00000163075 Cfap221 (MGI:2684947) -chr2 119759921 119984898 2q14.2 2q14.2 176878 PTPN4, PTPMEG1 Protein-tyrosine phosphatase, nonreceptor-type, 4 PTPN4 5775 ENSG00000088179 Ptpn4 (MGI:1099792) -chr2 120013031 120179118 2q14 2q14.2 611730 EPB41L5, KIAA1548 Erythrocyte membrane protein band 4.1-like 5 EPB41L5 57669 ENSG00000115109 Epb41l5 (MGI:103006) -chr2 120252849 120294710 2cen-q13 2q14.2 179551 RALB RAS-like protein B RALB 5899 ENSG00000144118 Ralb (MGI:1927244) -chr2 120346135 120351802 2cen-q13 2q14.2 147390 INHBB Inhibin, beta-2 INHBB 3625 ENSG00000163083 Inhbb (MGI:96571) -chr2 120735867 120992652 2q14 2q14.2 165230 GLI2, HPE9, CJS GLI-Kruppel family member GLI2 (oncogene GLI2) GLI2 2736 ENSG00000074047 Culler-Jones syndrome, 615849 (3), Autosomal dominant; Holoprosencephaly 9, 610829 (3), Autosomal dominant Gli2 (MGI:95728) -chr2 121216586 121285209 2q14 2q14.2 609785 TFCP2L1, CRTR1, LBP9 Transcription factor CP2-like 1 TFCP2L1 29842 ENSG00000115112 Tfcp2l1 (MGI:2444691) -chr2 121337775 121649461 2q14 2q14.2-q14.3 605852 CLASP1, KIAA0622 CLIP-associated protein 1 CLASP1 23332 ENSG00000074054 Clasp1 (MGI:1923957) -chr2 121530879 121531008 2q14.2 2q14.2 601428 RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN, LWS RNA, U4ATAC small nuclear RNU4ATAC 100151683 ENSG00000264229 Roifman syndrome, 616651 (3), Autosomal recessive; Lowry-Wood syndrome, 226960 (3), Autosomal recessive; Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3), Autosomal recessive -chr2 121600000 147900000 2q14-q22 604288 CMD1H Cardiomyopathy, dilated, 1H 23459 Cardiomyopathy, dilated, 1H, 604288 (2) -chr2 121600000 136100000 2q14.3-q21.3 614588 DYT21 Dystonia 21 100885773 Dystonia 21, 614588 (2), Autosomal dominant -chr2 121600000 129100000 2q14 619217 ENDOVESL ENDOVE syndrome, limb-only type ENDOVE syndrome, limb-only type, 619217 (4), Autosomal recessive -chr2 121600000 136100000 2q14-q21 165320 LCO Liver cancer oncogene -chr2 121600000 136100000 2q14-q21 164755 VIS1, HIS1 Viral integration site 1 VIS1 7435 -chr2 121726944 121736874 2q14.3 2q14.3 611970 NIFK, MKI67IP, NOPP34 Nucleolar protein interacting with the FHA domain of MKI67 NIFK 84365 ENSG00000155438 Nifk (MGI:1915199) -chr2 121755650 121767852 2q21.1 2q14.3 600575 TSN Translin TSN 7247 ENSG00000211460 Tsn (MGI:109263) -chr2 124025286 124921218 2q14 2q14.3 610519 CNTNAP5, CASPR5 Contactin-associated protein-like 5 CNTNAP5 129684 ENSG00000155052 Cntnap5c,Cntnap5a,Cntnap5b (MGI:3664583,MGI:3643623,MGI:3646013) -chr2 126656157 126696667 2q14-q21 2q14.3 110750 GYPC, GE, GPC Glycophorin C GYPC 2995 ENSG00000136732 [Blood group, Gerbich], 616089 (3); {Malaria, resistance to}, 611162 (3) Gypc (MGI:1098566) -chr2 127048022 127107153 2q14 2q14.3 601248 BIN1, AMPHL, CNM2 Box-dependent MYC-interacting protein-1 (amphiphysin-like) BIN1 274 ENSG00000136717 Centronuclear myopathy 2, 255200 (3), Autosomal recessive Bin1 (MGI:108092) -chr2 127257289 127294165 2q21 2q14.3 133510 ERCC3, XPB, TTD2 Excision-repair cross-complementing rodent repair deficiency, complementation group 3 ERCC3 2071 ENSG00000163161 Trichothiodystrophy 2, photosensitive, 616390 (3), Autosomal recessive; Xeroderma pigmentosum, group B, 610651 (3), Autosomal recessive Ercc3 (MGI:95414) -chr2 127298667 127388464 2q14.3 2q14.3 609487 MAP3K2, MEKK2 Mitogen-activated protein kinase kinase kinase 2 MAP3K2 10746 ENSG00000169967 Map3k2 (MGI:1346873) -chr2 127418142 127429245 2q13-q14 2q14.3 612283 PROC, PC, THPH3, THPH4 Protein C (inactivator of coagulation factors Va and VIIIa) PROC 5624 ENSG00000115718 Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3), Autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3), Autosomal dominant Proc (MGI:97771) -chr2 127535682 127637725 2q21.1 2q14.3 606541 MYO7B Myosin VIIb MYO7B 4648 ENSG00000169994 Myo7b (MGI:107709) -chr2 127638420 127681785 2q14.3 2q14.3 607908 LIMS2, PINCH2, MDRCMTT LIM zinc finger domain-containing protein 2 LIMS2 55679 ENSG00000072163 mutation identified in 1 LGMD2W family ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, 616827 (3), Autosomal recessive Lims2 (MGI:2385067) -chr2 127646152 127652638 2q21 2q14.3 603071 GPR17 G protein-coupled receptor-17 GPR17 2840 ENSG00000144230 Gpr17 (MGI:3584514) -chr2 127701026 127811186 2q14.2 2q14.3 618082 WDR33, WDC146 WD repeat-containing protein 33 WDR33 55339 ENSG00000136709 Wdr33 (MGI:1921570) -chr2 127843552 127858154 2q14.3 2q14.3 606017 POLR2D Polymerase II, RNA, subunit D POLR2D 5433 ENSG00000144231 Polr2d (MGI:1916491) -chr2 127941217 128028058 2q14.3 2q14.3 609697 SAP130 Sin3A-associated protein, 130kD SAP130 79595 ENSG00000136715 Sap130 (MGI:1919782) -chr2 128091183 128195676 2q14.3 2q14.3 605897 UGGT1, HUGT1 UDP-glucose glycoprotein glucosyltransferase 1 UGGT1 56886 ENSG00000136731 Uggt1 (MGI:2443162) -chr2 128265479 128318867 2q21 2q14.3 604846 HS6ST1, HS6ST, HH15 Heparan sulfate 6-O-sulfotransferase 1 HS6ST1 9394 ENSG00000136720 {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3), Autosomal dominant Hs6st1 (MGI:1354958) -chr2 129100000 131700000 2q21.1 612311 ADHD5 Attention deficit-hyperactivity disorder, susceptibility to, 5 100190790 max lod at rs985162 {Attention deficit-hyperactivity disorder, susceptibility to, 5}, 612311 (2) -chr2 129100000 147900000 2q21.1-q22 608316 CHDS2 Coronary heart disease, susceptibility to, 2 387584 {Coronary heart disease, susceptibility to, 2}, 608316 (2) -chr2 129979665 129982737 2q21.1 2q21.1 612909 RAB6C, WTH3 Ras-associated protein RAB6C RAB6C 84084 ENSG00000222014 -chr2 130151391 130181756 2q21.1 2q21.1 610457 SMPD4, NSMASE3, KIAA1418, NEDMABA Sphingomyelin phosphodiesterase 4, neutral membrane SMPD4 55627 ENSG00000136699 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, 618622 (3), Autosomal recessive Smpd4 (MGI:1924876) -chr2 130182261 130190726 2q21.1 2q21.1 613450 FAM128B, MOZART2B Family with sequence similarity 128, member B MZT2B 80097 ENSG00000152082 Mzt2 (MGI:1922845) -chr2 130337932 130342680 2q21.2 2q21.1 613734 CCDC115, CCP1, CDG2O Coiled-coil domain-containing protein 115 CCDC115 84317 ENSG00000136710 Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive Ccdc115 (MGI:1916918) -chr2 130342241 130347966 2q21.1 2q21.1 612981 IMP4, BXDC4 Imp4, S. cerevisiae, homolog of IMP4 92856 ENSG00000136718 Imp4 (MGI:106572) -chr2 130356011 130375404 2q21.1 2q21.1 606587 PTPN18, BDP1 Protein-tyrosine phosphatase, nonreceptor-type, 18 PTPN18 26469 ENSG00000072135 Ptpn18 (MGI:108410) -chr2 130592164 130599574 2q21.1 2q21.1 605194 CFC1, CRYPTIC, HTX2 Cryptic protein CFC1 55997 ENSG00000136698 Heterotaxy, visceral, 2, autosomal, 605376 (3), Autosomal dominant Cfc1 (MGI:109448) -chr2 130836913 131051513 2q22 2q21.1 605216 ARHGEF4, ASEF RHO guanine nucleotide exchange factor 4 ARHGEF4 50649 ENSG00000136002 Arhgef4 (MGI:2442507) -chr2 131104846 131149846 2q21.1 2q21.1 618452 PLEKHB2, EVT2 Pleckstrin homology domain-containing protein, family B, member 2 PLEKHB2 55041 ENSG00000115762 Plekhb2 (MGI:2385825) -chr2 131209535 131265277 2q21.1 2q21.1 608914 POTEE, POTE2 POTE ankyrin domain family, member E POTEE 445582 ENSG00000188219 5 POTE2 genes within 2Mb segment Potea (MGI:1914825) -chr2 131469723 131493079 2q21.1 2q21.1 613449 FAM128A, MOZART2A Family with sequence similarity 128, member A MZT2A 653784 ENSG00000173272 Mzt2 (MGI:1922845) -chr2 131476118 131482933 2q21.1 2q21.1 617878 TUBA3D, KTCN9 Tubulin, alpha-3D TUBA3D 113457 ENSG00000075886 Keratoconus 9, 617928 (3), Autosomal dominant Tuba3b (MGI:1095408) -chr2 131592041 131626428 2q21.1 2q21.1 611266 POTEKP, ACT, ACTBL3, POTEK, FKSG30 POTE ankyrin domain family, member K, pseudogene POTEKP 440915 -chr2 132416804 132646581 2q21-q22 2q21.2 602886 GPR39 G protein-coupled receptor-39 GPR39 2863 ENSG00000183840 Gpr39 (MGI:1918361) -chr2 132643285 132671525 2q21.2 2q21.2 610450 LYPD1, PHTS LY6/PLAUR domain-containing protein 1 LYPD1 116372 ENSG00000150551 Lypd1 (MGI:1919835) -chr2 132671787 133675181 2q21.2 2q21.2 608789 NCKAP5, NAP5 NCK-associated protein 5 NCKAP5 344148 ENSG00000176771 Nckap5 (MGI:2686394) -chr2 134119921 134454620 2q21 2q21.2-q21.3 601774 MGAT5 Mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl- glucosaminyltransferase MGAT5 4249 ENSG00000152127 Mgat5 (MGI:894701) -chr2 134300000 136100000 2q21 606240 NMTC3 Nonmedullary thyroid carcinoma 3 114568 {Thyroid carcinoma, nonmedullary, 3}, 606240 (2), Autosomal dominant -chr2 134455758 134720933 2q21.3 2q21.3 618978 TMEM163, SV31 Transmembrane protein 163 TMEM163 81615 ENSG00000152128 REc Tmem163 (MGI:1919410) -chr2 134918809 134959341 2p14-q21.3 2q21.3 603862 CCNT2 Cyclin T2 CCNT2 905 ENSG00000082258 Ccnt2 (MGI:1920199) -chr2 135052280 135176666 2q21.3 2q21.3 602536 RAB3GAP1, WARBM1, P130, MARTS2 RAB3 GTPase-activating protein, catalytic subunit RAB3GAP1 22930 ENSG00000115839 Martsolf syndrome 2, 619420 (3), Autosomal recessive; Warburg micro syndrome 1, 600118 (3), Autosomal recessive Rab3gap1 (MGI:2445001) -chr2 135196968 135531217 2q21.3 2q21.3 615655 ZRANB3 Zinc finger RANBP2-type domain-containing protein 3 ZRANB3 84083 ENSG00000121988 Zranb3 (MGI:1918362) -chr2 135531483 135725268 2q21.3 2q21.3 619474 R3HDM1, KIAA0029 R3H domain-containing protein 1 R3HDM1 23518 ENSG00000048991 R3hdm1 (MGI:2448514) -chr2 135665396 135665477 2q21 2q21.3 611774 MIR128-1, MIRN128-1, MIR128A Micro RNA 128-1 MIR128-1 406915 ENSG00000207654 Mir128-1 (MGI:2676813) -chr2 135741854 135785055 2q21.3-q22.1 2q21.3 611216 UBXN4, UBXD2, KIAA2042, ERASIN UBX domain protein 4 UBXN4 23190 ENSG00000144224 Ubxn4 (MGI:1915062) -chr2 135787849 135837194 2q21 2q21.3 603202 LCT, LAC, LPH Lactase (lactase-phlorizin hydrolase) LCT 3938 ENSG00000115850 Lactase deficiency, congenital, 223000 (3), Autosomal recessive Lct (MGI:104576) -chr2 135839625 135876442 2q21 2q21.3 601806 MCM6 Minichromosome maintenance deficient (mis5, S. pombe) 6 MCM6 4175 ENSG00000076003 mutations in introns 9 and 13 Lactase persistence/nonpersistence, 223100 (3), Autosomal dominant Mcm6 (MGI:1298227) -chr2 135905880 135985683 2q21.3 2q21.3 603084 DARS1, DARS, HBSL Aspartyl tRNA synthetase 1 DARS1 1615 ENSG00000115866 Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3), Autosomal recessive Dars (MGI:2442544) -chr2 136114348 136118148 2q21 2q22.1 162643 CXCR4, D2S201E, NPY3R, WHIMS1 Chemokine (C-X-C motif) receptor 4 (neuropeptide Y receptor Y3) CXCR4 7852 ENSG00000121966 WHIM syndrome 1, 193670 (3), Autosomal dominant; Myelokathexis, isolated, 193670 (3), Autosomal dominant Cxcr4 (MGI:109563) -chr2 137964067 138016363 2q22 2q22.1 605238 HNMT, MRT51 Histamine N-methyltransferase HNMT 3176 ENSG00000150540 Mental retardation, autosomal recessive 51, 616739 (3), Autosomal recessive; {Asthma, susceptibility to}, 600807 (3), Autosomal dominant Hnmt (MGI:2153181) -chr2 138669156 138780389 2q22.1 2q22.1 604635 NXPH2, NPH2 Neuroxophilin 2 NXPH2 11249 ENSG00000144227 Nxph2 (MGI:107491) -chr2 140231422 142132462 2q22.1-q22.2 2q22.1-q22.2 608766 LRP1B Low density lipoprotein receptor-related protein 1B LRP1B 53353 ENSG00000168702 Lrp1b (MGI:2151136) -chr2 142877663 143055832 2q22.2 2q22.2 605197 KYNU, KYNUU, VCRL2 Kynureninase KYNU 8942 ENSG00000115919 mutation identified in 1 KYNUU family ?Hydroxykynureninuria, 236800 (3), Autosomal recessive; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3), Autosomal recessive Kynu (MGI:1918039) -chr2 143070972 143768351 2q22.2-q22.3 2q22.2-q22.3 610578 ARHGAP15, BM046 Rho GTPase-activating protein 15 ARHGAP15 55843 ENSG00000075884 Arhgap15 (MGI:1923367) -chr2 143400000 168900000 2q22-q24 611535 MAFD5 Major affective disorder 5 100188843 {Major affective disorder 5}, 611535 (2) -chr2 143938067 144333068 2q22 2q22.3 610165 GTDC1 Glycosyltransferase-like domain containing 1 GTDC1 79712 ENSG00000121964 Gtdc1 (MGI:2444269) -chr2 144384080 144520118 2q22 2q22.3 605802 ZEB2, ZFHX1B, SMADIP1, SIP1 Zinc finger E box-binding homeobox 2 ZEB2 9839 ENSG00000169554 Mowat-Wilson syndrome, 235730 (3), Autosomal dominant Zeb2 (MGI:1344407) -chr2 147844516 147930821 2q22.2-q23.3 2q22.3-q23.1 102581 ACVR2A, ACVR2 Activin A receptor, type IIA ACVR2A 92 ENSG00000121989 Acvr2a (MGI:102806) -chr2 147930395 148021550 2q22-q23 2q23.1 603056 ORC4, ORC4L Origin recognition complex, subunit 4 ORC4 5000 ENSG00000115947 Meier-Gorlin syndrome 2, 613800 (3), Autosomal recessive Orc4 (MGI:1347043) -chr2 148021010 148516970 2q23.1 2q23.1 611472 MBD5, KIAA1461, MRD1 Methyl-CpG-binding domain protein 5 MBD5 55777 ENSG00000204406 Mental retardation, autosomal dominant 1, 156200 (3), Autosomal dominant Mbd5 (MGI:2138934) -chr2 148644750 148788490 2q23.1 2q23.1 611000 EPC2 Enhancer of polycomb, Drosophila, homolog of, 2 EPC2 26122 ENSG00000135999 Epc2 (MGI:1278321) -chr2 148875226 149026758 2q23.1 2q23.1-q23.2 604593 KIF5C, NKHC2, CDCBM2 Kinesin family member 5C KIF5C 3800 ENSG00000168280 Cortical dysplasia, complex, with other brain malformations 2, 615282 (3), Autosomal dominant Kif5c (MGI:1098269) -chr2 149329984 149474137 2q23.1-q23.2 2q23.2 613359 LYPD6 LY6/PLAUR domain-containing protein 6 LYPD6 130574 ENSG00000187123 Lypd6 (MGI:2443848) -chr2 149569636 149587774 2q23.2 2q23.2 611935 MMADHC, C2orf25 Metabolism of cobalamin associated D MMADHC 27249 ENSG00000168288 Methylmalonic aciduria, cblD type, variant 2, 277410 (3), Autosomal recessive; Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3), Autosomal recessive; Homocystinuria, cblD type, variant 1, 277410 (3), Autosomal recessive Mmadhc (MGI:1923786) -chr2 149600000 168900000 2q23-q24.3 603964 DFNA16 Deafness, autosomal dominant 16 1694 Deafness, autosomal dominant 16, 603964 (2), Autosomal dominant -chr2 149600000 182100000 2q23-q31 605818 DFNB27 Deafness, autosomal recessive 27 23713 Deafness, autosomal recessive 27, 605818 (2), Autosomal recessive -chr2 149600000 168900000 2q23-q24 613863 GEFSP7, FEB3B Generalized epilepsy with febrile seizures plus, type 7 120325367 max lod at D2S2330 Generalized epilepsy with febrile seizures plus, type 7, 613863 (2), Autosomal dominant -chr2 150468192 150487694 2q23.3 2q23.3 602924 RND3, RHOE, ARHE RHO family GTPase 3 RND3 390 ENSG00000115963 Rnd3 (MGI:1921444) -chr2 151270464 151289667 2q23.3 2q23.3 603525 NMI NMYC interactor NMI 9111 ENSG00000123609 previously assigned to 22q13.3 Nmi (MGI:1928368) -chr2 151357591 151380045 2q23.3 2q23.3 600410 TNFAIP6 Tumor necrosis factor, alpha-induced protein-6 TNFAIP6 7130 ENSG00000123610 Tnfaip6 (MGI:1195266) -chr2 151485333 151734475 2q22 2q23.3 161650 NEB, NEM2, AMC6 Nebulin NEB 4703 ENSG00000183091 Nemaline myopathy 2, autosomal recessive, 256030 (3), Autosomal recessive; Arthrogryposis multiplex congenita 6, 619334 (3), Autosomal recessive Neb (MGI:97292) -chr2 151798796 151828420 2q23-q24.1 2q23.3 608960 ARL5A ADP ribosylation factor-like GTPase 5A ARL5A 26225 ENSG00000162980 Arl5a (MGI:1922673) -chr2 151832770 152099166 2q22-q23 2q23.3 601949 CACNB4, EJM6, EA5, EIG9 Calcium channel, voltage-dependent, beta 4 subunit CACNB4 785 ENSG00000182389 {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3), Autosomal dominant; Episodic ataxia, type 5, 613855 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3), Autosomal dominant Cacnb4 (MGI:103301) -chr2 152116800 152175776 2q23.3 2q23.3 606244 STAM2 Signal-transducing adaptor molecule 2 STAM2 10254 ENSG00000115145 Stam2 (MGI:1929100) -chr2 152335169 152649825 2q23.3 2q23.3 616285 FMNL2, KIAA1902 Formin-like 2 FMNL2 114793 ENSG00000157827 Fmnl2 (MGI:1918659) -chr2 152651592 152718018 2q23.3 2q23.3 612941 PRPF40A, HYPA, FNBP3, FBP11 Pre-mRNA processing factor 40A PRPF40A 55660 ENSG00000196504 Prpf40a (MGI:1860512) -chr2 152717647 152762395 2q23.3 2q23.3 616495 ARL6IP6, AIP6 ADP ribosylation factor-like GTPase 6 interacting protein 6 ARL6IP6 151188 ENSG00000177917 Arl6ip6 (MGI:1929507) -chr2 153477337 153478761 2q23 2q23.3 612171 RPRM Reprimo RPRM 56475 ENSG00000177519 Rprm (MGI:1915124) -chr2 153871921 154454176 2q24.1 2q23.3-q24.1 608369 GALNT13, KIAA1918 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 GALNT13 114805 ENSG00000144278 Galnt13 (MGI:2139447) -chr2 154000000 177100000 2q24.1-q31.1 610295 INTLQ2 Intelligence quantitative trait locus 3 100462723 {Intelligence QTL3}, 610295 (2) -chr2 154000000 158900000 2q24.1 612759 SYNSTH Synesthesia 100301527 max lod at D2S142 Synesthesia, 612759 (2) -chr2 154698694 154858353 2q24.1 2q24.1 601534 KCNJ3, GIRK1 Potassium inwardly-rectifying channel, subfamily J, member 3 KCNJ3 3760 ENSG00000162989 Kcnj3 (MGI:104742) -chr2 156324431 156332723 2q22-q23 2q24.1 601828 NR4A2, NURR1, NOT, TINUR Nuclear receptor subfamily 4, group A, member 2 NR4A2 4929 ENSG00000153234 Nr4a2 (MGI:1352456) -chr2 156435289 156586402 2q24.1 2q24.1 138430 GPD2 Glycerol-3-phosphate dehydrogenase 2 (mitochondrial) GPD2 2820 ENSG00000115159 pseudogene on 19 {Type 2 diabetes mellitus, susceptibility to}, 125853 (3), Autosomal dominant Gpd2 (MGI:99778) -chr2 157257655 157318490 2q24.2 2q24.1 615129 GALNT5, GALNACT5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 GALNT5 11227 ENSG00000136542 Galnt5 (MGI:2179403) -chr2 157318630 157327711 2q24.1 2q24.1 610072 ERMN, JN, KIAA1189 Ermin ERMN 57471 ENSG00000136541 Ermn (MGI:1925017) -chr2 157412781 157444088 2q11.2 2q24.1 604448 CYTIP, PSCDBP, HE Cytohesin 1 interacting protein CYTIP 9595 ENSG00000115165 Cytip (MGI:2183535) -chr2 157526766 157628863 2q24.1 2q24.1 608981 ACVR1C, ALK7 Activin A receptor, type IC ACVR1C 130399 ENSG00000123612 Acvr1c (MGI:2661081) -chr2 157736445 157876329 2q23-q24 2q24.1 102576 ACVR1, ACVRLK2, ALK2, FOP Activin A receptor, type I ACVR1 90 ENSG00000115170 Fibrodysplasia ossificans progressiva, 135100 (3), Autosomal dominant Acvr1 (MGI:87911) -chr2 157995178 158136153 2q24.1 2q24.1 617340 UPP2 Uridine phosphorylase 2 UPP2 151531 ENSG00000007001 Upp2 (MGI:1923904) -chr2 158456951 158681428 2q23-q31 2q24.1 604276 PKP4 Plakophilin-4 PKP4 8502 ENSG00000144283 Pkp4 (MGI:109281) -chr2 158968599 159232658 2q24.2 2q24.2 611397 TANC1, KIAA1728 Tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 1 TANC1 85461 ENSG00000115183 Tanc1 (MGI:1914110) -chr2 159315311 159712441 2q23-q24 2q24.2 605683 BAZ2B Bromodomain adjacent to zinc finger domain, 2B BAZ2B 29994 ENSG00000123636 Baz2b (MGI:2442782) -chr2 159712493 159771026 2q24.2 2q24.2 613334 MARCH7 Membrane-associated RING-CH finger protein 7 MARCHF7 64844 ENSG00000136536 Marchf7 (MGI:1931053) -chr2 159768627 159798207 2q24 2q24.2 612246 CD302, DCL1, KIAA0022 CD302 antigen CD302 9936 ENSG00000241399 Cd302 (MGI:1913455) -chr2 159803354 159904755 2q24.2 2q24.2 604524 LY75 Lymphocyte antigen 75 LY75 4065 ENSG00000054219 Ly75 (MGI:106662) -chr2 159932001 160062614 2q23-q24 2q24.2 604939 PLA2R1, PLA2R Phospholipase A2 receptor 1 PLA2R1 22925 ENSG00000153246 Pla2r1 (MGI:102468) -chr2 160099670 160200271 2q24.2 2q24.2 147558 ITGB6, AI1H Integrin, beta-6 ITGB6 3694 ENSG00000115221 Amelogenesis imperfecta, type IH, 616221 (3), Autosomal recessive Itgb6 (MGI:96615) -chr2 160272150 160493982 2q24.2 2q24.2 602310 RBMS1, MSSP, SCR2 RNA-binding motif protein, single strand-interacting, 1 RBMS1 5937 ENSG00000153250 Rbms1 (MGI:1861774) -chr2 161136962 161236229 2q24.2 2q24.2 603893 TANK, ITRAF TRAF family member-associated NF-Kappa-B activator TANK 10010 ENSG00000136560 Tank (MGI:107676) -chr2 161308424 161411716 2q24.2 2q24.2 607173 PSMD14, POH1, PAD1 Proteasome 26S subunit, non-ATPase, 14 PSMD14 10213 ENSG00000115233 Psmd14 (MGI:1913284) -chr2 161416296 161425869 2q24.2 2q24.2 604616 TBR1, IDDAS T-box, brain, 1 TBR1 10716 ENSG00000136535 Intellectual developmental disorder with autism and speech delay, 606053 (3), Autosomal dominant Tbr1 (MGI:107404) -chr2 161620962 161985269 2q23-q24 2q24.2 605556 SLC4A10 Solute carrier family 4 (sodium bicarbonate cotransporter-like), member 10 SLC4A10 57282 ENSG00000144290 Slc4a10 (MGI:2150150) -chr2 161992244 162074214 2q23 2q24.2 102720 DPP4, CD26, ADCP2 Dipeptidylpeptidase IV (CD26; adenosine deaminase complexing protein-2) DPP4 1803 ENSG00000197635 Dpp4 (MGI:94919) -chr2 162142881 162152246 2q36-q37 2q24.2 138030 GCG Glucagon GCG 2641 ENSG00000115263 Gcg (MGI:95674) -chr2 162170683 162243471 2q23 2q24.2 600403 FAP, FAPA Fibroblast activation protein, alpha subunit FAP 2191 ENSG00000078098 Fap (MGI:109608) -chr2 162267073 162318683 2q24 2q24.2 606951 IFIH1, MDA5, AGS7, SGMRT1 Interferon induced with helicase C domain 1 IFIH1 64135 ENSG00000115267 Aicardi-Goutieres syndrome 7, 615846 (3), Autosomal dominant; Singleton-Merten syndrome 1, 182250 (3), Autosomal dominant Ifih1 (MGI:1918836) -chr2 162318762 162377224 2q24.2 2q24.2 607030 GCA Grancalcin GCA 25801 ENSG00000115271 Gca (MGI:1918521) -chr2 162371406 162838816 2q24.2 2q24.2 608169 KCNH7, ERG3, HERG3, Kv11.3 Potassium channel, voltage-gated, subfamily H, member 7 KCNH7 90134 ENSG00000184611 Kcnh7 (MGI:2159566) -chr2 162900000 196600000 2q24-q32 612108 FGQTL1 Fasting plasma glucose level QTL 1 100499165 associated with rs560887 [Fasting plasma glucose level QTL 1], 612108 (2) -chr2 162900000 168900000 2q24.3 610155 IDDM19 Diabetes mellitus, insulin-dependent, 19 associated with rs1990760 {Diabetes mellitus, insulin-dependent, 19}, 610155 (2) -chr2 162900000 196600000 2q24-q32 156232 MMDK, MDK Mesomelic dysplasia, Kantaputra type 10305 Mesomelic dysplasia, Kantaputra type, 156232 (2), Autosomal dominant -chr2 163602610 163736154 4q22.1 2q24.3 605295 FIGN Fidgetin FIGN 55137 ENSG00000182263 Fign (MGI:1890647) -chr2 164492416 164622958 2q22-q24 2q24.3 601524 GRB14 Growth factor receptor-bound protein 14 GRB14 2888 ENSG00000115290 Grb14 (MGI:1355324) -chr2 164657930 164842075 2q24 2q24.3 610318 COBLL1, COBLR1, KIAA0977 COBL-like protein 1 COBLL1 22837 ENSG00000082438 Cobll1 (MGI:2442894) -chr2 164894353 164955524 2q24.3 2q24.3 616526 SLC38A11 Solute carrier family 38 (amino acid transporter), member 11 SLC38A11 151258 ENSG00000169507 Slc38a11 (MGI:2443383) -chr2 165087525 165204294 2q24 2q24.3 182391 SCN3A, FFEVF4, DEE62 Sodium voltage-gated channel, alpha subunit 3 SCN3A 6328 ENSG00000153253 Epilepsy, familial focal, with variable foci 4, 617935 (3), Autosomal dominant; Developmental and epileptic encephalopathy 62, 617938 (3), Autosomal dominant Scn3a (MGI:98249) -chr2 165239413 165392303 2q23-q24.3 2q24.3 182390 SCN2A, SCN2A1, BFIC3, DEE11, BFIS3, BFNIS, EA9 Sodium voltage-gated channel, alpha subunit 2 SCN2A 6326 ENSG00000136531 4 related genes on chr.2 Seizures, benign familial infantile, 3, 607745 (3), Autosomal dominant; Developmental and epileptic encephalopathy 11, 613721 (3), Autosomal dominant; Episodic ataxia, type 9, 618924 (3), Autosomal dominant Scn2a (MGI:98248) -chr2 165747587 165796351 2q24-q31 2q24.3 601756 GALNT3, HHS, HFTC1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 GALNT3 2591 ENSG00000115339 Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 (3), Autosomal recessive Galnt3 (MGI:894695) -chr2 165873361 165953780 2q24.3 2q24.3 612014 TTC21B, THM1, NPHP12, SRTD4, ATD4 Tetratricopeptide repeat domain 21B TTC21B 79809 ENSG00000123607 Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3), Autosomal recessive; Nephronophthisis 12, 613820 (3), Autosomal dominant, Autosomal recessive Ttc21b (MGI:1920918) -chr2 165984640 166149160 2q24 2q24.3 182389 SCN1A, GEFSP2, SMEI, FEB3A, DEE6A, DRVT, FHM3, DEE6B Sodium voltage-gated channel, alpha subunit 1 SCN1A 6323 ENSG00000144285 Developmental and epileptic encephalopathy 6B, non-Dravet, 619317 (3), Autosomal dominant; Migraine, familial hemiplegic, 3, 609634 (3), Autosomal dominant; Dravet syndrome, 607208 (3), Autosomal dominant; Febrile seizures, familial, 3A, 604403 (3), Autosomal dominant; Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3), Autosomal dominant Scn1a (MGI:98246) -chr2 166195184 166375986 2q24 2q24.3 603415 SCN9A, NENA, PN1, SFNP, HSAN2D Sodium voltage-gated channel, alpha subunit 9 SCN9A 6335 ENSG00000169432 Erythermalgia, primary, 133020 (3), Autosomal dominant; Insensitivity to pain, congenital, 243000 (3), Autosomal recessive; Small fiber neuropathy, 133020 (3), Autosomal dominant; Paroxysmal extreme pain disorder, 167400 (3), Autosomal dominant; Neuropathy, hereditary sensory and autonomic, type IID, 243000 (3), Autosomal recessive Scn9a (MGI:107636) -chr2 166403572 166494263 2q21-q23 2q24.3 182392 SCN7A, SCN6A Sodium voltage-gated channel, alpha subnit 7 SCN7A 6332 ENSG00000136546 Scn7a (MGI:102965) -chr2 166888479 167259752 2q24.3 2q24.3 609778 CMYA3, XIRP2 Cardiomyopathy-associated protein 3 XIRP2 129446 ENSG00000163092 Xirp2 (MGI:2685198) -chr2 167293000 167874044 2q24.3 2q24.3 603093 B3GALT1 UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase, polypeptide 1 B3GALT1 8708 ENSG00000172318 B3galt1 (MGI:1349403) -chr2 167954019 168247594 2q24.3 2q24.3 607648 STK39, SPAK Serine/threonine protein kinase 39 STK39 27347 ENSG00000198648 Stk39 (MGI:1858416) -chr2 168455861 168775133 2q24.3 2q24.3 615336 CERS6, LASS6 Ceramide synthase 6 CERS6 253782 ENSG00000172292 Cers6 (MGI:2442564) -chr2 168786538 168865513 2q31.1 2q24.3 607496 NOSTRIN Nitric oxide synthase trafficker NOSTRIN 115677 ENSG00000163072 Nostrin (MGI:3606242) -chr2 168865044 168890442 2q31.1 2q24.3 609395 SPC25, SPBC25 SPC25, NDC80 kinetochore complex component SPC25 57405 ENSG00000152253 Spc25 (MGI:1913692) -chr2 168900000 177100000 2q31.1 613681 DUP2q31.1, C2DUPq31.1 Chromosome 2q31.1 duplication syndrome duplication of 9 HOXD genes and MTX2 Chromosome 2q31.1 duplication syndrome, 613681 (4), Autosomal dominant -chr2 168901222 168909999 2q24-q32 2q31.1 608058 G6PC2, IGRP Glucose-6-phosphatase, catalytic, 2 G6PC2 57818 ENSG00000152254 G6pc2 (MGI:1277193) -chr2 168915467 169031395 2q24 2q31.1 603201 ABCB11, BSEP, SPGP, PFIC2, BRIC2 ATP-binding cassette, subfamily B, member 11 (bile salt export pump) ABCB11 8647 ENSG00000073734 Cholestasis, benign recurrent intrahepatic, 2, 605479 (3), Autosomal recessive; Cholestasis, progressive familial intrahepatic 2, 601847 (3), Autosomal recessive Abcb11 (MGI:1351619) -chr2 169067076 169096166 2q31.1 2q31.1 612131 DHRS9, RDHTBE Short-chain dehydrogenase/reductase family, member 9 DHRS9 10170 ENSG00000073737 Dhrs9 (MGI:2442798) -chr2 169127108 169362596 2q24-q31 2q31.1 600073 LRP2, DBS Low density lipoprotein-related protein 2 LRP2 4036 ENSG00000081479 Donnai-Barrow syndrome, 222448 (3), Autosomal recessive Lrp2 (MGI:95794) -chr2 169479493 169506654 2q31 2q31.1 603650 BBS5 BBS gene 5 BBS5 129880 ENSG00000163093 Bardet-Biedl syndrome 5, 615983 (3), Autosomal recessive Bbs5 (MGI:1919819) -chr2 169509701 169526257 2q31.1 2q31.1 607701 KLHL41, KBTBD10, SARCOSIN, NEM9 Kelch-like family member 41 KLHL41 10324 ENSG00000239474 Nemaline myopathy 9, 615731 (3), Autosomal recessive Klhl41 (MGI:2683854) -chr2 169527879 169573915 2q31.3 2q31.1 617529 FASTKD1, KIAA1800 Fast kinase domains 1 FASTKD1 79675 ENSG00000138399 Fastkd1 (MGI:2444596) -chr2 169584342 169641405 2q31.1 2q31.1 606093 PPIG Peptidyl-prolyl isomerase G (cyclophilin G) PPIG 9360 ENSG00000138398 Ppig (MGI:2445173) -chr2 169798870 169812063 2q31.1 2q31.1 109090 SSB, LARP3 Small RNA-binding exonuclease protection factor La SSB 6741 ENSG00000138385 Ssb (MGI:98423) -chr2 169811756 169824904 2q31.1 2q31.1 618628 METTL5, HSPC133, MRT72 Methyltransferase-like 5 METTL5 29081 ENSG00000138382 Intellectual developmental disorder, autosomal recessive 72, 618665 (3), Autosomal recessive Mettl5 (MGI:1922672) -chr2 169827453 170084130 2q31.1 2q31.1 613831 UBR3 Ubiquitin protein ligase E3 component N-recognin 3 UBR3 130507 ENSG00000144357 Ubr3 (MGI:1861100) -chr2 170178146 170655166 2q31.1-q31.2 2q31.1 610040 MYO3B Myosin IIIB MYO3B 140469 ENSG00000071909 Myo3b (MGI:2448580) -chr2 170714724 170718077 2q31.1 2q31.1 609391 SP5 Transcription factor Sp5 SP5 389058 ENSG00000204335 Sp5 (MGI:1927715) -chr2 170813209 170861150 2q31 2q31.1 605363 GAD1, SCP, DEE89 Glutamate decarboxylase-1, brain, 67kD GAD1 2571 ENSG00000128683 Developmental and epileptic encephalopathy 89, 619124 (3), Autosomal recessive Gad1 (MGI:95632) -chr2 170990822 171231292 2q31.1 2q31.1 608438 TLK1, KIAA0137 Tousled-like kinase 1 TLK1 9874 ENSG00000198586 Tlk1 (MGI:2441683) -chr2 171315745 171434796 2q31.1 2q31.1 609525 METTL8, TIP Methyltransferase-like 8 METTL8 79828 ENSG00000123600 Mettl8 (MGI:2385142) -chr2 171434165 171491028 2q22.3-q35 2q31.1 612515 DCAF17, C20orf37 DDB1- and CUL4-associated factor 17 DCAF17 80067 ENSG00000115827 Woodhouse-Sakati syndrome, 241080 (3), Autosomal recessive Dcaf17 (MGI:1923013) -chr2 171522232 171558128 2q31.1 2q31.1 605745 CYBD1, DCYTB Cytochrome b reductase 1 CYBRD1 79901 ENSG00000071967 Cybrd1 (MGI:2654575) -chr2 171687468 171750157 2q31.1 2q31.1 603331 DYNC1I2, DNCI2, IC2, NEDMIBA Dynein, cytoplasmic-1, intermediate chain-2 DYNC1I2 1781 ENSG00000077380 Neurodevelopmental disorder with microcephaly and structural brain anomalies, 618492 (3), Autosomal recessive Dync1i2 (MGI:107750) -chr2 171783404 171894243 2q24 2q31.1 603667 SLC25A12, ARALAR, DEE39 Solute carrier family 25 (mitochondrial carrier, Aralar), member 12 SLC25A12 8604 ENSG00000115840 Developmental and epileptic encephalopathy 39, 612949 (3), Autosomal recessive Slc25a12 (MGI:1926080) -chr2 171922424 171983685 2q31.2-q33.1 2q31.1 603053 HAT1 Histone acetyltransferase-1 HAT1 8520 ENSG00000128708 Hat1 (MGI:96013) -chr2 171999952 172082429 2q31.1 2q31.1 610267 METAP1D, MAP1D Methionyl aminopeptidase type 1D (mitochondrial) METAP1D 254042 ENSG00000172878 Metap1d (MGI:1913809) -chr2 172085506 172089673 2q32 2q31.1 600029 DLX1 Distal-less homeo box-1 DLX1 1745 ENSG00000144355 Dlx1 (MGI:94901) -chr2 172099437 172102899 2q32 2q31.1 126255 DLX2, TES1 Distal-less homeo box-2 DLX2 1746 ENSG00000115844 Dlx2 (MGI:94902) -chr2 172427335 172506458 2q31.1 2q31.1 147556 ITGA6 Integrin, alpha-6 ITGA6 3655 ENSG00000091409 Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3), Autosomal recessive Itga6 (MGI:96605) -chr2 172555372 172672697 2q31.1 2q31.1 602524 PDK1 Pyruvate dehydrogenase kinase, isoenzyme 1 PDK1 5163 ENSG00000152256 Pdk1 (MGI:1926119) -chr2 172735281 173052892 2q31.1 2q31.1 606058 RAPGEF4, EPAC2 Rap guanine nucleotide exchange factor RAPGEF4 11069 ENSG00000091428 Rapgef4 (MGI:1917723) -chr2 173075434 173268014 2q31.1 2q31.1 609479 ZAK, MLTK, MRK, SFMMP, CNM6 Leucine zipper- and sterile alpha motif-containing kinase MAP3K20 51776 ENSG00000091436 Centronuclear myopathy 6 with fiber-type disproportion, 617760 (3), Autosomal recessive; Split-foot malformation with mesoaxial polydactyly, 616890 (3), Autosomal recessive Map3k20 (MGI:2443258) -chr2 173354860 173368996 2q31 2q31.1 609937 CDCA7, JPO1, ICF3 Cell division cycle-associated 7 CDCA7 83879 ENSG00000144354 Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3), Autosomal recessive Cdca7 (MGI:1914203) -chr2 173900774 173965701 2q31 2q31.1 601804 SP3 Sp3 transcription factor SP3 6670 ENSG00000172845 Sp3 (MGI:1277166) -chr2 174072446 174248531 2q31.1 2q31.1 611175 OLA1, GTBP9 OBG-like ATPase 1 OLA1 29789 ENSG00000138430 Ola1 (MGI:1914309) -chr2 174348021 174395711 2q31.1 2q31.1 605228 CIR1 CBF1-interacting corepressor CIR1 9541 ENSG00000138433 Cir1 (MGI:1914185) -chr2 174395729 174430073 2q31.1 2q31.1 614967 SCRN3, SES3 Secernin 3 SCRN3 79634 ENSG00000144306 Scrn3 (MGI:1921866) -chr2 174559573 174682912 2q31.1 2q31.1 602357 WIPF1, WASPIP, WIP, WAS2 WAS/WASL-interacting protein family, member 1 WIPF1 7456 ENSG00000115935 Wiskott-Aldrich syndrome 2, 614493 (3), Autosomal recessive Wipf1 (MGI:2178801) -chr2 174747591 174764471 2q24-q32 2q31.1 100690 CHRNA1, ACHRD, CMS1B, CMS1A Cholinergic receptor, nicotinic, alpha polypeptide-1, muscle CHRNA1 1134 ENSG00000138435 Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3), Autosomal dominant, Autosomal recessive; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3), Autosomal dominant; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive Chrna1 (MGI:87885) -chr2 174798808 175005380 2q31-q32.1 2q31.1 118423 CHN1, CHN, ARHGAP2, RHOGAP2, DURS2 Chimerin 1 (GTPase-activating protein, rho, 2) CHN1 1123 ENSG00000128656 Duane retraction syndrome 2, 604356 (3), Autosomal dominant Chn1 (MGI:1915674) -chr2 175072258 175168202 2q32 2q31.1 123811 ATF2, CREB2 Activating transcription factor 2 ATF2 1386 ENSG00000115966 Atf2 (MGI:109349) -chr2 175176257 175181709 2q31.1 2q31.1 602736 ATP5G3 ATP synthase, mitochondrial, C subunit-3 ATP5MC3 518 ENSG00000154518 Atp5g3 (MGI:2442035) -chr2 175923861 176002900 2q31 2q31.1 610236 LNPK, KIAA1715, NEDEHCC Lunapark LNPK 80856 ENSG00000144320 Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 (3), Autosomal recessive Lnpk (MGI:1918115) -chr2 176077471 176083961 2q31-q32 2q31.1 142991 EVX2 Even-skipped homeo box-2 EVX2 344191 ENSG00000174279 13kb 5' to HOX4I Evx2 (MGI:95462) -chr2 176087486 176095943 2q31-q32 2q31.1 142989 HOXD13, HOX4I, SPD1, BDSD Homeo box-D13 HOXD13 3239 ENSG00000128714 mutation identified in 1 BDSD family Syndactyly, type V, 186300 (3), Autosomal dominant; Synpolydactyly 1, 186000 (3), Autosomal dominant; Brachydactyly, type E, 113300 (3), Autosomal dominant; Brachydactyly, type D, 113200 (3), Autosomal dominant; ?Brachydactyly-syndactyly syndrome, 610713 (3) Hoxd13 (MGI:96205) -chr2 176099794 176102488 2q31-q32 2q31.1 142988 HOXD12, HOX4H Homeo box-D12 HOXD12 3238 ENSG00000170178 upstream from HOX4A-G Hoxd12 (MGI:96204) -chr2 176107279 176109753 2q31-q32 2q31.1 142986 HOXD11, HOX4F Homeo box-D11 HOXD11 3237 ENSG00000128713 Hoxd11 (MGI:96203) -chr2 176116777 176119936 2q31-q32 2q31.1 142984 HOXD10, HOX4D Homeo box-D10 HOXD10 3236 ENSG00000128710 Vertical talus, congenital, 192950 (3), Autosomal dominant; Charcot-Marie-Tooth disease, foot deformity of, 192950 (3), Autosomal dominant Hoxd10 (MGI:96202) -chr2 176122718 176124936 2q31-q32 2q31.1 142982 HOXD9, HOX4C Homeo box-D9 HOXD9 3235 ENSG00000128709 Hoxd9 (MGI:96210) -chr2 176129704 176132694 2q31-q32 2q31.1 142985 HOXD8, HOX4E Homeo box-D8 HOXD8 3234 ENSG00000175879 Hoxd8 (MGI:96209) -chr2 176150302 176150411 2q31 2q31.1 611576 MIR10B, MIRN10B Micro RNA 10B MIR10B 406903 ENSG00000207744 Mir10b (MGI:2676804) -chr2 176150393 176156077 2q31-q32 2q31.1 142981 HOXD4, HOX4B Homeo box-D4 HOXD4 3233 ENSG00000170166 Hoxd4 (MGI:96208) -chr2 176157306 176173101 2q31-q32 2q31.1 142980 HOXD3, HOX4A Homeo box-D3 HOXD3 3232 ENSG00000128652 Hoxd3 (MGI:96207) -chr2 176173188 176188957 2q31.1 2q31.1 618209 HAGLR, MDGT HOXD antisense growth-associated long noncoding RNA HAGLR 401022 ENSG00000224189 -chr2 176188667 176190906 2q31-q32 2q31.1 142987 HOXD1, HOX4G Homeo box-D1 HOXD1 3231 ENSG00000128645 Hoxd1 (MGI:96201) -chr2 176269422 176338024 2q31.1 2q31.1 608555 MTX2, MDPS Metaxin 2 MTX2 10651 ENSG00000128654 Mandibuloacral dysplasia progeroid syndrome, 619127 (3), Autosomal recessive Mtx2 (MGI:1859652) -chr2 177100000 179700000 2q31.2 612345 DEL2q31 Chromosome 2q31.2 deletion syndrome contiguous gene deletion syndrome Chromosome 2q31.2 deletion syndrome, 612345 (4) -chr2 177212693 177223958 2q31.2 2q31.2 605372 HNRPA3, D10S102, FBRNP Heterogeneous nuclear ribonucleoprotein A3 HNRNPA3 220988 ENSG00000170144 Hnrnpa3 (MGI:1917171) -chr2 177230302 177265130 2q31 2q31.2 600492 NFE2L2, NRF2, IMDDHH Nuclear factor, erythroid-derived 2-like 2 NFE2L2 4780 ENSG00000116044 Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 (3), Autosomal dominant Nfe2l2 (MGI:108420) -chr2 177392772 177543833 2q31 2q31.2 603051 AGPS, ADHAPS, RCDP3 Alkylglycerone-phosphate synthase AGPS 8540 ENSG00000018510 Rhizomelic chondrodysplasia punctata, type 3, 600121 (3), Autosomal recessive Agps (MGI:2443065) -chr2 177623243 178108338 2q31.2 2q31.2 604961 PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2 Phosphodiesterase 11A PDE11A 50940 ENSG00000128655 Pigmented nodular adrenocortical disease, primary, 2, 610475 (3), Autosomal dominant Pde11a (MGI:3036251) -chr2 178112408 178129655 2q31.2 2q31.2 608888 RBM45 RNA binding motif protein 45 RBM45 129831 ENSG00000155636 Rbm45 (MGI:2387367) -chr2 178194464 178402892 2q32.1 2q31.2 606734 OSBPL6, ORP6 Oxysterol-binding protein-like protein 6 OSBPL6 114880 ENSG00000079156 Osbpl6 (MGI:2139014) -chr2 178431413 178451174 2q31.3 2q31.2 603424 PRKRA, PACT, RAX, DYT16 Protein kinase, interferon-inducible double-stranded RNA-dependent activator PRKRA 8575 ENSG00000180228 Dystonia 16, 612067 (3), Autosomal recessive Prkra (MGI:1344375) -chr2 178450591 178467548 2q31.2 2q31.2 610219 PJVK, DFNB59 Pejvakin PJVK 494513 ENSG00000204311 Deafness, autosomal recessive 59, 610220 (3), Autosomal recessive Pjvk (MGI:2685847) -chr2 178463663 178480816 2q31.2 2q31.2 607062 FKBP7, FKBP23 FK506-binding protein 7 FKBP7 51661 ENSG00000079150 Fkbp7 (MGI:1336879) -chr2 178480453 178516462 2q31.2 2q31.2 607774 PLEKHA3, FAPP1 Pleckstrin homology domain-containing protein, family A, member 3 PLEKHA3 65977 ENSG00000116095 Plekha3 (MGI:1932515) -chr2 178525988 178807422 2q31 2q31.2 188840 TTN, CMD1G, TMD, LGMDR10, MPRM, HMERF, SALMY Titin TTN 7273 ENSG00000155657 Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3), Autosomal recessive; Cardiomyopathy, familial hypertrophic, 9, 613765 (3), Autosomal dominant; Tibial muscular dystrophy, tardive, 600334 (3), Autosomal dominant; Salih myopathy, 611705 (3), Autosomal recessive; Cardiomyopathy, dilated, 1G, 604145 (3); Myopathy, myofibrillar, 9, with early respiratory failure, 603689 (3), Autosomal dominant Ttn (MGI:98864) -chr2 178825307 179050136 2q31 2q31.2 616031 CCDC141, CAMDI Coiled-coil domain-containing protein 141 CCDC141 285025 ENSG00000163492 Ccdc141 (MGI:1919735) -chr2 179441981 179864549 2q31.2-q31.3 2q31.2-q31.3 612344 ZNF385B, ZFN533 Zinc finger protein 385B ZNF385B 151126 ENSG00000144331 Zfp385b (MGI:2444734) -chr2 179700000 188500000 2q31.3-q32.1 187370 DA10 Arthrogryposis, distal, type 10 max lod at D2S364 Arthrogryposis, distal, type 10, 187370 (2), Autosomal dominant -chr2 179700000 182100000 2q31 600321 IDDM7 Insulin-dependent diabetes mellitus-7 3406 {Diabetes mellitus, insulin-dependent, 7}, 600321 (2) -chr2 179700000 182100000 2q31 611147 PNKD2 Paroxysmal nonkinesigenic dyskinesia 2 100188328 between D2S2188 and D2S364 Paroxysmal nonkinesigenic dyskinesia 2, 611147 (2), Autosomal dominant -chr2 179700000 182100000 2q31 606708 SHFM5 Split-hand/foot malformation 5 171157 between EVX2 and D2S294 Split-hand/foot malformation 5, 606708 (2) -chr2 179860835 179860907 2q31.3 2q31.3 614488 MIR1258 Micro RNA 1258 MIR1258 100302172 ENSG00000221240 on opposite strand from ZNF385B -chr2 179944875 180007296 2q31.3 2q31.3 615186 CWC22, KIAA1604, NCM CWC22 spliceosome-associated protein homolog CWC22 57703 ENSG00000163510 Gm13691,Cwc22,Gm13695 (MGI:3702053,MGI:3702066,MGI:2136773) -chr2 180692103 180916938 2q31.3 2q31.3 615568 SCHLAP1, PCAT114, LINC00913 SWI/SNF complex antagonist associated with prostate cancer 1, noncoding SCHLAP1 101669767 ENSG00000281131 -chr2 180980359 181063426 2q32.1 2q31.3 604151 UBE2E3, UBCH9 Ubiquitin-conjugating enzyme E2E 3 UBE2E3 10477 ENSG00000170035 Ube2e3 (MGI:107412) -chr2 181457204 181538939 2q31-q32 2q31.3 192975 ITGA4, CD49D Integrin, alpha-4 (antigen CD49D, alpha-4 subunit of VLA-4 receptor) ITGA4 3676 ENSG00000115232 Itga4 (MGI:96603) -chr2 181536671 181657104 2q31.3 2q31.3 608381 CERKL, RP26 Ceramide kinase-like CERKL 375298 ENSG00000188452 Retinitis pigmentosa 26, 608380 (3) Cerkl (MGI:3037816) -chr2 181668294 181680516 2q32 2q31.3 601724 NEUROD1, T2D Neurogenic differentiation 1 NEUROD1 4760 ENSG00000162992 {Type 2 diabetes mellitus, susceptibility to}, 125853 (3), Autosomal dominant; Maturity-onset diabetes of the young 6, 606394 (3) Neurod1 (MGI:1339708) -chr2 181891729 181930737 2q31.3 2q31.3 118990 ITPRID2, SSFA2, CS1 ITPR-interacting domain-containing protein 2 ITPRID2 6744 ENSG00000138434 Itprid2 (MGI:1917849) -chr2 181954479 182131384 2q32.1 2q31.3-q32.1 613240 PPP1R1C, IPP5 Protein phosphatase 1, regulatory subunit 1C PPP1R1C 151242 ENSG00000150722 Ppp1r1c (MGI:1923185) -chr2 182100000 196600000 2q32.1-q32.3 602087 ARVD4 Arrhythmogenic right ventricular dysplasia 4 425 Arrhythmogenic right ventricular dysplasia 4, 602087 (2), Autosomal dominant -chr2 182100000 188500000 2q32.1 612361 SCZD14 Schizophrenia 14 100196913 associated with rs1344706 {Schizophrenia, susceptibility to, 14}, 612361 (2) -chr2 182136452 182523374 2q32.1 2q32.1 171890 PDE1A Phosphodiesterase-1A PDE1A 5136 ENSG00000115252 Pde1a (MGI:1201792) -chr2 182716256 182794463 2p23.1-p22.1 2q32.1 607987 DNAJC10, ERDJ5, JPDI DNAJ/HSP40 homolog, subfamily C, member 10 DNAJC10 54431 ENSG00000077232 Dnajc10 (MGI:1914111) -chr2 182833274 182866636 2q31-q33 2q32.1 605083 FRZB, FRZB1, SRFP3, OS1 Frizzled-related protein FRZB 2487 ENSG00000162998 {Osteoarthritis susceptibility 1}, 165720 (3), Multifactorial Frzb (MGI:892032) -chr2 182909114 183038456 2q32.1-q32.2 2q32.1 604891 NCKAP1, NAP1 NCK-associated protein 1 NCKAP1 10787 ENSG00000061676 Nckap1 (MGI:1355333) -chr2 183078746 183100007 2q32.1 2q32.1 611437 DUSP19, SKRP1, DUSP17 Dual-specificity phosphatase 19 DUSP19 142679 ENSG00000162999 Dusp19 (MGI:1915332) -chr2 183117479 183161679 2q32.1 2q32.1 608140 NUP35, NP44 Nucleoporin, 35kD NUP35 129401 ENSG00000163002 Nup35 (MGI:1916732) -chr2 184598528 184939491 2q32.1 2q32.1 612282 ZNF804A, C2orf10 Zinc finger protein 804A ZNF804A 91752 ENSG00000170396 Zfp804a (MGI:2442949) -chr2 185738803 185833289 2q32.1 2q32.1 615796 FSIP2, SPGF34 Fibrous sheath-interacting protein 2 FSIP2 401024 ENSG00000188738 Spermatogenic failure 34, 618153 (3), Autosomal recessive Fsip2 (MGI:2664111) -chr2 186590055 186680900 2q31 2q32.1 193210 ITGAV, VNRA Integrin, alpha-V (vitronectin receptor, alpha polypeptide) ITGAV 3685 ENSG00000138448 Itgav (MGI:96608) -chr2 187341963 187448303 2q31-q32 2q32.1 114190 CALCRL, CGRPR, CRLR, LMPHM8 Calcitonin receptor-like CALCRL 10203 ENSG00000064989 mutation identified in 1 LMPHM8 family ?Lymphatic malformation 8, 618773 (3), Autosomal recessive Calcrl (MGI:1926944) -chr2 187464229 187554500 2q31-q32.1 2q32.1 152310 TFPI, LACI Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) TFPI 7035 ENSG00000003436 Tfpi (MGI:1095418) -chr2 188291698 188595925 2q32.2-q33 2q32.1-q32.2 608165 GULP1, CED6 PTB domain-containing engulfment adaptor protein 1 GULP1 51454 ENSG00000144366 Gulp1 (MGI:1920407) -chr2 188733737 188790122 2q33 2q32.2 606423 DIRC1 Disrupted in renal cancer 1 DIRC1 116093 -chr2 188974372 189012745 2q32.2 2q32.2 120180 COL3A1, EDSVASC, PMGEDSV Collagen III, alpha-1 polypeptide COL3A1 1281 ENSG00000168542 in same 35kb segment as COL5A2 Ehlers-Danlos syndrome, vascular type, 130050 (3), Autosomal dominant; Polymicrogyria with or without vascular-type EDS, 618343 (3), Autosomal recessive Col3a1 (MGI:88453) -chr2 189031897 189225300 2q32.2 2q32.2 120190 COL5A2, EDSCL2 Collagen V, alpha-2 polypeptide COL5A2 1290 ENSG00000204262 very close to COL3A1 Ehlers-Danlos syndrome, classic type, 2, 130010 (3), Autosomal dominant Col5a2 (MGI:88458) -chr2 189560589 189580810 2q32 2q32.2 604653 SLC40A1, SLC11A3, FPN1, IREG1, HFE4 Solute carrier family 40 (iron-regulated transporter), member 1 SLC40A1 30061 ENSG00000138449 Hemochromatosis, type 4, 606069 (3), Autosomal dominant Slc40a1 (MGI:1315204) -chr2 189674291 189763058 2q32.2 2q32.2 609803 FLJ25415 FLJ25415 gene ANKAR 150709 ENSG00000151687 Ankar (MGI:2442559) -chr2 189763858 189784338 2q32.2 2q32.2 610073 ORMDL1 ORM1-like protein 1 ORMDL1 94101 ENSG00000128699 pseudogene on 10p14 Ormdl1 (MGI:2181669) -chr2 189784141 189877628 2q31-q33 2q32.2 600258 PMS1, PMSL1, HNPCC3 PMS1 homolog 1, mismatch repair system component PMS1 5378 ENSG00000064933 Pms1 (MGI:1202302) -chr2 189879478 190203483 2q32.2 2q32.2 615117 C2orf88, SMAKAP Small membrane protein kinase A-anchoring protein C2orf88 84281 ENSG00000187699 1700019D03Rik (MGI:1914330) -chr2 190055699 190062728 2q32.2 2q32.2 601788 MSTN, GDF8, MSLHP Myostatin MSTN 2660 ENSG00000138379 mutation identified in 1 MSLHP patient ?Muscle hypertrophy, 614160 (3), Autosomal recessive Mstn (MGI:95691) -chr2 190203919 190319825 2q32.2 2q32.2 610690 HIBCH 3-hydroxyisobutyryl-CoA hydrolase HIBCH 26275 ENSG00000198130 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3), Autosomal recessive Hibch (MGI:1923792) -chr2 190343588 190371664 2q32 2q32.2 147263 INPP1 Inositol polyphosphate-1-phosphatase INPP1 3628 ENSG00000151689 Inpp1 (MGI:104848) -chr2 190407575 190502313 2q32.2 2q32.2 613476 MFSD6, MMR2 Major facilitator superfamily domain-containing protein 6 MFSD6 54842 ENSG00000151690 Mfsd6 (MGI:1922925) -chr2 190454087 190607125 2q32.2 2q32.2 616497 NEMP2, TMEM194B Nuclear envelope integral membrane protein 2 NEMP2 100131211 ENSG00000189362 Nemp2 (MGI:2444113) -chr2 190648859 190692765 2q32.3-q33 2q32.2 600800 NAB1 NGFI-A-binding protein, ERG1-binding protein NAB1 4664 ENSG00000138386 Nab1 (MGI:107564) -chr2 190880820 190965551 2q32-q34 2q32.2 138280 GLS, GLS1, DEE71, CASGID, GDPAG Glutaminase GLS 2744 ENSG00000115419 mutation identified in 1 CASGID patient Global developmental delay, progressive ataxia, and elevated glutamine, 618412 (3), Autosomal recessive; ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339 (3), Autosomal dominant; Developmental and epileptic encephalopathy 71, 618328 (3), Autosomal recessive Gls (MGI:95752) -chr2 190968988 191014196 2q32.2-q32.3 2q32.2 600555 STAT1, CANDF7, IMD31A, IMD31B, IMD31C Signal transducer and activator of transcription-1 STAT1 6772 ENSG00000115415 Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, 614162 (3), Autosomal dominant; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3), Autosomal dominant; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3), Autosomal recessive Stat1 (MGI:103063) -chr2 191029575 191172683 2q32.2-q32.3 2q32.2-q32.3 600558 STAT4, SLEB11 Signal transducer and activator of transcription-4 STAT4 6775 ENSG00000138378 {Systemic lupus erythematosus, susceptibility to, 11}, 612253 (3) Stat4 (MGI:103062) -chr2 191245399 191425385 2q32 2q32.3 606537 MYO1B Myosin IB MYO1B 4430 ENSG00000128641 Myo1b (MGI:107752) -chr2 191678135 191686942 2q32.3 2q32.3 612103 OBFC2A, SSB2 Oligonucleotide/oligosaccharide-binding fold-containing protein 2A NABP1 64859 ENSG00000173559 Nabp1 (MGI:1923258) -chr2 191834309 191847087 2q32-q33 2q32.3 606728 CAVIN2, SDPR, SDR Caveolae-associated protein 2 CAVIN2 8436 ENSG00000168497 Cavin2 (MGI:99513) -chr2 191948299 192194932 2q32-q33 2q32.3 605734 TMEFF2, HPP1, TR Transmembrane protein with EGF-like and 2 follistatin-like domains 2 TMEFF2 23671 ENSG00000144339 Tmeff2 (MGI:1861735) -chr2 192749844 192776898 2q32 2q32.3 605443 PCGEM1 Prostate-specific gene PCGEM1 PCGEM1 64002 ENSG00000227418 -chr2 195737603 196068836 2q33.1 2q32.3 610061 DNAH7, KIAA0944 Dynein, axonemal, heavy chain 7 DNAH7 56171 ENSG00000118997 Dnah7c,Dnah7b,Dnah7a (MGI:3639762,MGI:2684953,MGI:2685838) -chr2 196133582 196176502 2q32.3 2q32.3 604727 STK17B, DRAK2 Serine/threonine protein kinase 17b STK17B 9262 ENSG00000081320 Stk17b (MGI:2138162) -chr2 196194071 196593691 2q32.3 2q32.3 617245 HECW2, NEDL2, KIAA1301, NDHSAL HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 2 HECW2 57520 ENSG00000138411 Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3), Autosomal dominant Hecw2 (MGI:2685817) -chr2 196600000 202500000 2q33.1 612586 ANIB9 Aneurysm, intracranial berry, 9 100271688 associated with rs700651 {Aneurysm, intracranial berry, 9}, 612586 (2) -chr2 196763034 196799682 2q33.1 2q33.1 604888 GTF3C3, TFIIIC102 General transcription factor 3C, polypeptide 3 GTF3C3 9330 ENSG00000119041 Gtf3c3 (MGI:2138383) -chr2 196833003 196926994 2q33.1 2q33.1 611655 PGAP1, NEDDSBA Post-GPI attachment to proteins 1 PGAP1 80055 ENSG00000197121 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, 615802 (3), Autosomal recessive Pgap1 (MGI:2443342) -chr2 197389783 197435092 2q33.1 2q33.1 605590 SF3B1, SF3B155, SAP155, MDS Splicing factor 3B, subunit 1 SF3B1 23451 ENSG00000115524 Myelodysplastic syndrome, somatic, 614286 (3) Sf3b1 (MGI:1932339) -chr2 197486583 197500273 2q33.1 2q33.1 118190 HSPD1, SPG13, HSP60, HLD4 Heat-shock 60kD protein 1 HSPD1 3329 ENSG00000144381 Spastic paraplegia 13, autosomal dominant, 605280 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 4, 612233 (3), Autosomal recessive Hspd1 (MGI:96242) -chr2 197500378 197503448 2q33.1 2q33.1 600141 HSPE1, HSP10 Heat-shock 10kD protein HSPE1 3336 ENSG00000115541 Hspe1 (MGI:104680) -chr2 197515553 197553698 2q33.1 2q33.1 609361 MOB4, MOBKL3, PREI3, MOB1, MOB3 MOB family, member 4 MOB4 25843 ENSG00000115540 Mob4 (MGI:104899) -chr2 197568223 197675793 2q34 2q33.1 618215 RFTN2 Lipid raft linking protein 2 RFTN2 130132 ENSG00000162944 Rftn2 (MGI:1921263) -chr2 197705368 197708394 2q33.1 2q33.1 609728 MARS2, SPAX3, COXPD25 Methionyl-tRNA synthetase 2 MARS2 92935 ENSG00000247626 mutation identified in 1 COXPD25 family ?Combined oxidative phosphorylation deficiency 25, 616430 (3), Autosomal recessive; Spastic ataxia 3, autosomal recessive, 611390 (3), Autosomal recessive Mars2 (MGI:2444136) -chr2 197726889 197786311 2q33 2q33.1 606165 BOLL, BOULE BOL-like (Boule, Drosophila, homolog of) BOLL 66037 ENSG00000152430 Boll (MGI:1922638) -chr2 197804592 198149872 2q33 2q33.1 600597 PLDL1, PLCE, PLCL Phospholipase C-like 1 PLCL1 5334 ENSG00000115896 Plcl1 (MGI:3036262) -chr2 199269499 199471265 2q33 2q33.1 608148 SATB2, KIAA1034, GLSS Special AT-rich sequence-binding protein 2 SATB2 23314 ENSG00000119042 Glass syndrome, 612313 (3), Autosomal dominant Satb2 (MGI:2679336) -chr2 199663331 199851191 2q33.1 2q33.1 614308 FTCDNL1, FONG Formiminotransferase cyclodeaminase N-terminal like FTCDNL1 348751 ENSG00000226124 -chr2 199911292 199928272 2q33.1 2q33.1 619219 C2orf69, COXPD53 Chromosome 2 open reading frame 69 C2orf69 205327 ENSG00000178074 Combined oxidative phosphorylation deficiency 53, 619423 (3), Autosomal recessive 1700066M21Rik (MGI:1920717) -chr2 199955316 199964116 2q33.1 2q33.1 617267 MAIP1, C2orf47 Matrix AAA peptidase-interacting protein 1 MAIP1 79568 ENSG00000162972 Maip1 (MGI:1915365) -chr2 200305878 200482263 2q33.1 2q33.1 613817 SPATS2L, SGNP Spermatogenesis-associated serine-rich protein 2-like SPATS2L 26010 ENSG00000196141 Spats2l (MGI:1914448) -chr2 200510197 200584095 2q33.1 2q33.1 612425 SGOL2, SGO2, TRIPIN Shugoshin-like 2 SGO2 151246 ENSG00000163535 Sgo2a,Sgo2b (MGI:1098767,MGI:3644562) -chr2 200585951 200677063 2q33 2q33.1 602841 AOX1 Aldehyde oxidase-1 AOX1 316 ENSG00000138356 Aox1 (MGI:88035) -chr2 200811588 200827337 2q33.1 2q33.1 619252 BZW1, BZAP45, KIAA0005 Basic leucine zipper domain- and W2 domain-containing protein 1 BZW1 9689 ENSG00000082153 Bzw1 (MGI:1914132) -chr2 200853008 200864657 2q33 2q33.1 601951 CLK1, CLK, STY CDC-like kinase 1 CLK1 1195 ENSG00000013441 Clk1 (MGI:107403) -chr2 200870906 200889332 2q33 2q33.1 615811 PPIL3 Peptidyl-prolyl isomerase-like 3 PPIL3 53938 ENSG00000240344 Ppil3 (MGI:1917475) -chr2 200889326 200903931 2q33 2q33.1 605778 NIF3L1 Ngg1 interacting factor 3, S. pombe, homolog of, like 1 NIF3L1 60491 ENSG00000196290 Nif3l1 (MGI:1929485) -chr2 200908976 200963700 2q33 2q33.1 601182 ORC2, ORC2L Origin recognition complex, subunit 2 ORC2 4999 ENSG00000115942 Orc2 (MGI:1328306) -chr2 201071783 201085749 2q31.3 2q33.1 603839 NDUFB3, MC1DN25 NADH-ubiquinone oxidoreductase subunit B3 NDUFB3 4709 ENSG00000119013 pseudogenes on chr. 1, 9, and 14 Mitochondrial complex I deficiency, nuclear type 25, 618246 (3), Autosomal recessive Ndufb3 (MGI:1913745) -chr2 201116163 201176686 2q33 2q33.1 603599 CFLAR, FLIP, CASPER, FLAME1, CASH CASP8- and FADD-like apoptosis regulator CFLAR 8837 ENSG00000003402 Cflar (MGI:1336166) -chr2 201182884 201229405 2q33-q34 2q33.1 601762 CASP10, MCH4, ALPS2 Caspase 10, apoptosis-related cysteine protease CASP10 843 ENSG00000003400 Autoimmune lymphoproliferative syndrome, type II, 603909 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3) -chr2 201233442 201287710 2q33 2q33.1 601763 CASP8, MCH5, ALPS2B Caspase 8, apoptosis-related cysteine protease CASP8 841 ENSG00000064012 mutation identified in 1 ALPS2B family {Breast cancer, protection against}, 114480 (3), Somatic mutation, Autosomal dominant; Hepatocellular carcinoma, somatic, 114550 (3); ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3), Autosomal recessive; {Lung cancer, protection against}, 211980 (3), Somatic mutation, Autosomal dominant Casp8 (MGI:1261423) -chr2 201377206 201451576 2q33-q34 2q33.1 607334 TRAK2, GRIF1, ALS2CR3, KIAA0549, OIP98 Gamma-aminobutyric acid receptor-interacting factor 1 TRAK2 66008 ENSG00000115993 Trak2 (MGI:1918077) -chr2 201451733 201480845 2q33-q34 2q33.1 607333 STRADB, ILPIP, ALS2CR2 STE20-related kinase adaptor beta STRADB 55437 ENSG00000082146 pseudogenes on chromosomes 1 and 9 Stradb (MGI:2144047) -chr2 201620185 201643502 2q33.2 2q33.1 614423 TMEM237, ALS2CR4, JBTS14 Transmembrane protein 237 TMEM237 65062 ENSG00000155755 Joubert syndrome 14, 614424 (3), Autosomal recessive Tmem237 (MGI:2138365) -chr2 201644873 201700262 2q31 2q33.1 606575 MPP4, DLG6 Membrane protein, palmitoylated 4 MPP4 58538 ENSG00000082126 Mpp4 (MGI:2386681) -chr2 201700266 201781152 2q33 2q33.1 606352 ALS2, ALSJ, PLSJ, IAHSP Alsin Rho guanine nucleotide exchange factor ALS2 ALS2 57679 ENSG00000003393 Primary lateral sclerosis, juvenile, 606353 (3), Autosomal recessive; Spastic paralysis, infantile onset ascending, 607225 (3), Autosomal recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100 (3), Autosomal recessive Als2 (MGI:1921268) -chr2 201790323 201895549 2q33.1 2q33.1 616147 CDK15, PFTAIRE2, ALS2CR7 Cyclin-dependent kinase 15 CDK15 65061 ENSG00000138395 Cdk15 (MGI:3583944) -chr2 202033854 202038440 2q33 2q33.1 603410 FZD7 Frizzled class receptor 7 FZD7 8324 ENSG00000155760 Fzd7 (MGI:108570) -chr2 202206170 202238596 2q32.2-q33 2q33.1 601912 SUMO1, UBL1, SMT3, OFC10 Small ubiquitin-like modifier 1 SUMO1 7341 ENSG00000116030 mutation identified in 1 OFC10 patient ?Orofacial cleft 10, 613705 (3), Isolated cases Sumo1 (MGI:1197010) -chr2 202265762 202303660 2p33.1 2q33.1 616742 NOP58, NOP5 Nop58, S. cerevisiae, homolog of NOP58 51602 ENSG00000055044 Nop58 (MGI:1933184) -chr2 202376309 202567750 2q33 2q33.1-q33.2 600799 BMPR2, PPH1, POVD1 Bone morphogenetic receptor, type II BMPR2 659 ENSG00000204217 Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3), Autosomal dominant; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3), Autosomal dominant; Pulmonary venoocclusive disease 1, 265450 (3), Autosomal dominant Bmpr2 (MGI:1095407) -chr2 202874260 202911672 2q33.2 2q33.2 616620 WDR12 WD repeat-containing protein 12 WDR12 55759 ENSG00000138442 Wdr12 (MGI:1927241) -chr2 202912247 202988262 2q33 2q33.2 607586 ALS2CR8, CARF Amyotrophic lateral sclerosis 2 chromosome region, candidate 8 (calcium response factor) CARF 79800 ENSG00000138380 Carf (MGI:2182269) -chr2 203013783 203225193 2q33-q34 2q33.2 609816 NBEAL1, ALS2CR17 Neurobeachin-like 1 NBEAL1 65065 ENSG00000144426 Nbeal1 (MGI:2444343) -chr2 203325012 203432168 2q33.2 2q33.2 606442 ABI2, AIP1 ABL interactor 2 ABI2 10152 ENSG00000138443 Abi2 (MGI:106913) -chr2 203706508 203739755 2q33-q34 2q33.2 186760 CD28 CD28 antigen (Tp44) CD28 940 ENSG00000178562 Cd28 (MGI:88327) -chr2 203867770 203873964 2q33 2q33.2 123890 CTLA4, IDDM12, CELIAC3, ALPS5 Cytotoxic T-lymphocyte-associated serine esterase-4 CTLA4 1493 ENSG00000163599 Autoimmune lymphoproliferative syndrome, type V, 616100 (3), Autosomal dominant; {Diabetes mellitus, insulin-dependent, 12}, 601388 (3); {Celiac disease, susceptibility to, 3}, 609755 (3); {Hashimoto thyroiditis}, 140300 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant Ctla4 (MGI:88556) -chr2 203936762 203961576 2q33 2q33.2 604558 ICOS, AILIM, CVID1 Inducible costimulator ICOS 29851 ENSG00000163600 Immunodeficiency, common variable, 1, 607594 (3), Autosomal recessive Icos (MGI:1858745) -chr2 204100000 230100000 2q33-q36 614280 EJM9 Epilepsy, juvenile myoclonic, susceptibility to, 9 100750238 max lod at D2S2248 {Epilepsy, juvenile myoclonic, susceptibility to, 9}, 614280 (2), Autosomal dominant -chr2 204100000 208200000 2q33.3 610839 OS4, GOA1 Osteoarthritis susceptibility 4 100188821 max lod at D2S2358 {Osteoarthritis susceptibility 4}, 610839 (2) -chr2 204100000 208200000 2q33 610439 RLS4 Restless legs syndrome, susceptibility to, 4 100188813 between D2S311 and D2S317 {Restless legs syndrome 4}, 610439 (2) -chr2 204545474 205620161 2q33 2q33.3 619353 PARD3B PAR3 family cell polarity regulator, beta PARD3B 117583 ENSG00000116117 Pard3b (MGI:1919301) -chr2 205682500 205798130 2q34 2q33.3 602070 NRP2, VEGF1265R2, NPN2 Neuropilin 2 NRP2 8828 ENSG00000118257 Nrp2 (MGI:1100492) -chr2 205993720 206086173 2q33.3 2q33.3 619207 INO80D INO80 complex, subunit D INO80D 54891 ENSG00000114933 Ino80d (MGI:3027003) -chr2 206114816 206159443 2q33-q34 2q33.3 157655 NDUFS1, MC1DN5 NADH-ubiquinone oxidoreductase core subunit S1 NDUFS1 4719 ENSG00000023228 Mitochondrial complex I deficiency, nuclear type 5, 618226 (3), Autosomal recessive Ndufs1 (MGI:2443241) -chr2 206159608 206162927 2q33-q34 2q33.3 600655 EEF1B2, EEF1B1 Eukaryotic translation elongation factor-1, beta-2 EEF1B2 1933 ENSG00000114942 pseudogene on chr.15 Eef1b2 (MGI:1929520) -chr2 206175315 206217911 2q33.3 2q33.3 600239 GPR1 G protein-coupled receptor-1 CMKLR2 2825 ENSG00000183671 conflicting assignment to 15q21.6 Gpr1 (MGI:2385324) -chr2 206203375 206266242 2q33.3 2q33.3 617636 GPR1AS GPR1 antisense RNA GPR1-AS 101669764 -chr2 206273571 206314426 2q33.3 2q33.3 617059 ZDBF2, KIAA1571 Zinc finger DBF domain-containing protein 2 ZDBF2 57683 ENSG00000204186 Zdbf2 (MGI:1921134) -chr2 206443531 206621126 2q33 2q33.3 603710 ADAM23, MDC3 ADAM metallopeptidase domain 23 ADAM23 8745 ENSG00000114948 Adam23 (MGI:1345162) -chr2 206651620 206718395 2q33.3 2q33.3 618510 DYTN Dystrotelin DYTN 391475 ENSG00000232125 Dytn (MGI:2685061) -chr2 206765605 206796188 2q33.3 2q33.3 612322 FASTKD2, KIAA0971, COXPD44 FAST kinase domains 2 FASTKD2 22868 ENSG00000118246 Combined oxidative phosphorylation deficiency 44, 618855 (3), Autosomal recessive Fastkd2 (MGI:1922869) -chr2 206792476 206971063 2q33.3 2q33.3 609563 CPO Carboxypeptidase O CPO 130749 ENSG00000144410 -chr2 207074136 207173850 2q32 2q33.3 604865 KLF7, UKLF Kruppel-like factor 7 KLF7 8609 ENSG00000118263 Klf7 (MGI:1935151) -chr2 207239810 207245886 2q33.3 2q33.3 618976 MYOSLID Myocardin-induced smooth muscle long noncoding RNA, inducer of differentiation MYOSLID 105373853 ENSG00000229647 overlaps with 3 other lncRNAs in the opposite direction -chr2 207529942 207605987 2q32.3-q34 2q33.3 123810 CREB1 cAMP-response element-binding protein-1 CREB1 1385 ENSG00000118260 fusion gene with EWSR1 Histiocytoma, angiomatoid fibrous, somatic, 612160 (3) Creb1 (MGI:88494) -chr2 207580634 207626052 2q33.3 2q33.3 615257 METTL21A, FAM119A Methyltransferase-like 21A METTL21A 151194 ENSG00000144401 Mettl21a (MGI:1914349) -chr2 207753888 207769905 2q33.3 2q33.3 601723 FZD5 Frizzled class receptor 5 FZD5 7855 ENSG00000163251 Fzd5 (MGI:108571) -chr2 207821287 208025674 2q33.3 2q33.3 619186 PLEKHM3, DAPR Pleckstrin homology domain-containing protein, family M, member 3 PLEKHM3 389072 ENSG00000178385 Plekhm3 (MGI:2443627) -chr2 208121606 208124523 2q33-q35 2q33.3 123690 CRYGD, CRYG4, CTRCT4, CACA, CCA3, PCC Crystallin, gamma D CRYGD 1421 ENSG00000118231 Cataract 4, multiple types, 115700 (3), Autosomal dominant Crygd,Crygf,Cryge (MGI:88524,MGI:88525,MGI:88526) -chr2 208128136 208139099 2q33-q35 2q33.3 123680 CRYGC, CRYG3, CTRCT2, CCL Crystallin, gamma C CRYGC 1420 ENSG00000163254 Cataract 2, multiple types, 604307 (3), Autosomal dominant Crygc (MGI:88523) -chr2 208142572 208146326 2q33-q35 2q33.3 123670 CRYGB, CRYG2, CTRCT39 Crystallin, gamma B CRYGB 1419 ENSG00000182187 Cataract 39, multiple types, autosomal dominant, 615188 (3), Autosomal dominant Crygb (MGI:88522) -chr2 208160739 208163588 2q33-q35 2q33.3 123660 CRYGA, CRYG1 Crystallin, gamma A CRYGA 1418 ENSG00000168582 Cryga (MGI:88521) -chr2 208165346 208190257 2q34 2q33.3 615536 C2orf80, GONDA1 Chromosome 2 open reading frame 80 C2orf80 389073 ENSG00000188674 D630023F18Rik (MGI:2138198) -chr2 208200000 230100000 2q34-q36 185900 DUP2q35, C2DUPq35, SDTY1, SD1 Chromosome 2q35 duplication syndrome (syndactyly, type I) Syndactyly, type 1, with or without craniosynostosis, 185900 (4), Autosomal dominant -chr2 208200000 214500000 2q34 601318 IDDM13 Insulin-dependent diabetes mellitus-13 3412 {Diabetes mellitus, insulin-dependent, 13}, 601318 (2) -chr2 208200000 220700000 2q34-q35 607966 SLEN2 Systemic lupus erythematosus with nephritis, susceptibility to, 2 192679 {Systemic lupus erythematosus with nephritis, susceptibility to, 2}, 607966 (2) -chr2 208200000 214500000 2q34 186860 TCL4 T-cell leukemia/lymphoma-4 6946 Leukemia/lymphoma, T-cell, 186860 (2) -chr2 208236226 208255070 2q33.3 2q34 147700 IDH1 Isocitrate dehydrogenase, soluble IDH1 3417 ENSG00000138413 {Glioma, susceptibility to, somatic}, 137800 (3) Idh1 (MGI:96413) -chr2 208266177 208358746 2q35 2q34 609414 PIKFYVE, PIP5K3 Phosphatidylinositol kinase, FYVE-finger containing PIKFYVE 200576 ENSG00000115020 Corneal fleck dystrophy, 121850 (3), Autosomal dominant Pikfyve (MGI:1335106) -chr2 208359691 208494505 2q33 2q34 601469 PTHR2 Parathyroid hormone receptor 2 PTH2R 5746 ENSG00000144407 Pth2r (MGI:2180917) -chr2 209424046 209734117 2q34-q35 2q34 157130 MAP2 Microtubule-associated protein-2 MAP2 4133 ENSG00000078018 Map2 (MGI:97175) -chr2 209771831 209999298 2q35 2q34 612636 UNC80, C2orf21, KIAA1843 Unc-80 homolog, NALCN channel complex subunit UNC80 285175 ENSG00000144406 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive Unc80 (MGI:2652882) -chr2 210002627 210023362 2q32-q33.3 2q34 180480 RPE Ribulose 5-phosphate 3-epimerase RPE 6120 ENSG00000197713 Rpe (MGI:1913896) -chr2 210021420 210171408 2q34 2q34 613833 KANSL1L, C2orf67, MSL1V2 KAT8 regulatory NSL complex subunit 1-like KANSL1L 151050 ENSG00000144445 Kansl1l (MGI:1915941) -chr2 210187922 210225446 2q34-q35 2q34 609576 ACADL, LCAD Acyl-Coenzyme A dehydrogenase, long chain ACADL 33 ENSG00000115361 Acadl (MGI:87866) -chr2 210290149 210315173 2q32.1-qter 2q34 160780 MYL1, MYOFTA Myosin, light polypeptide-1, alkali, skeletal, fast MYL1 4632 ENSG00000168530 Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 (3), Autosomal recessive Myl1 (MGI:97269) -chr2 210431250 210477617 2q34 2q34 604155 LANCL1, GPR69A LanC-like 1 (G protein-coupled receptor 69A) LANCL1 10314 ENSG00000115365 Lancl1 (MGI:1336997) -chr2 210477684 210679106 2q35 2q34 608307 CPS1, PHN Carbamoyl-phosphate synthetase 1, mitochondrial CPS1 1373 ENSG00000021826 urea cycle enzyme Carbamoylphosphate synthetase I deficiency, 237300 (3), Autosomal recessive; {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) Cps1 (MGI:891996) -chr2 211375716 212538801 2q34 2q34 600543 ERBB4, HER4, ALS19 Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4 ERBB4 2066 ENSG00000178568 Amyotrophic lateral sclerosis 19, 615515 (3), Autosomal dominant Erbb4 (MGI:104771) -chr2 212999691 213155296 2q34 2q34 606234 IKZF2, ANF1A2, HELIOS Ikaros family zinc finger 2 IKZF2 22807 ENSG00000030419 Ikzf2 (MGI:1342541) -chr2 213284368 214410500 2q34 2q34 612173 SPAG16, PF20 Sperm-associated antigen 16 SPAG16 79582 ENSG00000144451 Spag16 (MGI:1913972) -chr2 214500000 220700000 2q35 607949 MTBS1 Mycobacterium tuberculosis, susceptibility to infection by 404716 {Tuberculosis, susceptibility to}, 607949 (2) -chr2 214500000 220700000 2q35 613016 NBLST5 Neuroblastoma, susceptibility to, 5 100306938 associated with rs6435862, rs3768716 {Neuroblastoma, susceptibility to, 5}, 613016 (2) -chr2 214500000 230100000 2q35-q36 609153 PSHK2 Pseudohyperkalemia, familial, 2, due to red cell leak max lod at D2S1338 Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (2), Autosomal dominant -chr2 214725644 214809682 2q34-q35 2q35 601593 BARD1 BRCA1-associated RING domain 1 BARD1 580 ENSG00000138376 {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant Bard1 (MGI:1328361) -chr2 214931541 215138625 2q34 2q35 607800 ABCA12, ARCI4A, ARCI4B, ICR2B, LI2 ATP-binding cassette, subfamily A, member 12 ABCA12 26154 ENSG00000144452 Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3), Autosomal recessive; Ichthyosis, congenital, autosomal recessive 4A, 601277 (3), Autosomal recessive Abca12 (MGI:2676312) -chr2 215311973 215359744 2q35 2q35 601731 ATIC, PURH, AICAR 5-aminoimidazole-4-carboxyamide ribonucleotide formyltransferase/IMP cyclohydrolase ATIC 471 ENSG00000138363 AICA-ribosiduria due to ATIC deficiency, 608688 (3), Autosomal recessive Atic (MGI:1351352) -chr2 215360861 215436166 2q34 2q35 135600 FN1, FN, LETS, FNZ, GFND2, SMDCF Fibronectin-1 FN1 2335 ENSG00000115414 Spondylometaphyseal dysplasia, corner fracture type, 184255 (3), Autosomal dominant; Glomerulopathy with fibronectin deposits 2, 601894 (3), Autosomal dominant Fn1 (MGI:95566) -chr2 215939096 216034095 2q35 2q35 609207 MREG, DSU Melanoregulin MREG 55686 ENSG00000118242 Mreg (MGI:2151839) -chr2 216031655 216081842 2q35 2q35 605843 PECR, TERP Peroxisomal trans-2-enoyl-CoA reductase PECR 55825 ENSG00000115425 Pecr (MGI:2148199) -chr2 216109347 216206292 2q35 2q35 194364 XRCC5 X-ray repair cross complementing 5 XRCC5 7520 ENSG00000079246 included in YAC contig spanning 2q33-q34 Xrcc5 (MGI:104517) -chr2 216257864 216372482 2q35 2q35 608208 MARCH4, RNF174, KIAA1399 Membrane-associated RING-CH finger protein 4 MARCHF4 57574 ENSG00000144583 Marchf4 (MGI:2683550) -chr2 216412483 216483052 2q34-q36 2q35 606622 SMARCAL1, HARP, SIOD SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like SMARCAL1 50485 ENSG00000138375 Schimke immunoosseous dysplasia, 242900 (3), Autosomal recessive Smarcal1 (MGI:1859183) -chr2 216498843 216504085 2q35 2q35 613314 RPL37A Ribosomal protein L37A RPL37A 6168 ENSG00000197756 Rpl37a,Gm4149 (MGI:3782325,MGI:98068) -chr2 216632827 216664435 2q33-q34 2q35 146731 IGFBP2 Insulin-like growth factor-binding protein-2, 36kD IGFBP2 3485 ENSG00000115457 Igfbp2 (MGI:96437) -chr2 216672104 216695548 2q33-q36 2q35 146734 IGFBP5, IBP5 Insulin-like growth factor-binding protein 5 IGFBP5 3488 ENSG00000115461 Igfbp5 (MGI:96440) -chr2 216859457 216860063 2q35-q36 2q35 190231 TNP1 Transition protein-1 TNP1 7141 ENSG00000118245 Tnp1 (MGI:98784) -chr2 217284018 217756592 2q35 2q35 608262 DIRC3 Disrupted in renal carcinoma 3 DIRC3 729582 -chr2 217799788 218002994 2q35-q36 2q35 600076 TNS1, TNS Tensin 1 TNS1 7145 ENSG00000079308 Tns1 (MGI:104552) -chr2 218125293 218137252 2q35 2q35 146928 CXCR2, IL8RB, IL8R2, WHIMS2 Chemokine, CXC motif, receptor 2 CXCR2 3579 ENSG00000180871 mutation identified in 1 WHIMS2 family ?WHIM syndrome 2, 619407 (3) Cxcr2 (MGI:105303) -chr2 218162840 218166961 2q35 2q35 146929 CXCR1, IL8RA Chemokine, CXC motif, receptor 1 CXCR1 3577 ENSG00000163464 {AIDS, slow progression to}, 609423 (3) Cxcr1 (MGI:2448715) -chr2 218217137 218254347 2q35 2q35 604224 ARPC2, ARC34 Actin-related protein 2/3 complex, subunit 2 ARPC2 10109 ENSG00000163466 Arpc2 (MGI:1923959) -chr2 218259495 218263860 2q35 2q35 610147 GPBAR1, BG37 G protein-coupled bile acid receptor 1 GPBAR1 151306 ENSG00000179921 Gpbar1 (MGI:2653863) -chr2 218264126 218270180 2q35 2q35 603488 AAMP Angio-associated migratory cell protein AAMP 14 ENSG00000127837 Aamp (MGI:107809) -chr2 218270484 218346792 2q35 2q35 609023 PNKD, R1, TAHCCP2, KIPP1184, BRP17, FPD1, PDC, DYT8 PNKD metallo-beta-lactamase domain-containing protein PNKD 25953 ENSG00000127838 Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3), Autosomal dominant Pnkd (MGI:1930773) -chr2 218274191 218292576 2q35 2q35 610364 TMBIM1, RECS1 Transmembrane BAX inhibitor motif-containing protein 1 TMBIM1 64114 ENSG00000135926 Tmbim1 (MGI:1916910) -chr2 218356756 218368392 2q35 2q35 619387 CATIP, C2orf62 Ciliogenesis-associated TTC17-interacting protein CATIP 375307 ENSG00000158428 mutation identifed in 1 SPGF54 family ?Spermatogenic failure 54, 619379 (3), Autosomal recessive Catip (MGI:2685062) -chr2 218381765 218396893 2q35 2q35 600266 NRAMP1, NRAMP, SLC11A1 Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 SLC11A1 6556 ENSG00000018280 within 220 kb of VIL1 {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3); {Buruli ulcer, susceptibility to}, 610446 (3) Slc11a1 (MGI:1345275) -chr2 218398232 218405940 2q34 2q35 605323 CTDSP1, NLIIF, SCP1 C-terminal domain of RNA polymerase II polypeptide A, small phosphatase of, 1 CTDSP1 58190 ENSG00000144579 Ctdsp1 (MGI:2654470) -chr2 218402645 218402721 2q35 2q35 612152 MIR26B, MIRN26B Micro RNA 26B MIR26B 407017 ENSG00000199121 Mir26b (MGI:2676901) -chr2 218419122 218453294 2q35-q36 2q35 193040 VIL1 Villin-1 VIL1 7429 ENSG00000127831 Vil1 (MGI:98930) -chr2 218568577 218597079 2q35 2q35 612054 RQCD1, RCD1, CNOT9 Required for cell differentiation 1, S. pombe, homolog of CNOT9 9125 ENSG00000144580 Cnot9 (MGI:1928902) -chr2 218606870 218637185 2q35 2q35 605939 PLCD4 Phospholipase C, delta-4 PLCD4 84812 ENSG00000115556 Plcd4 (MGI:107469) -chr2 218633328 218659622 2q35 2q35 604083 ZNF142, NEDISHM Zinc finger protein-142 ZNF142 7701 ENSG00000115568 Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 (3), Autosomal recessive Zfp142 (MGI:1924514) -chr2 218659682 218663442 2q33 2q35 603647 BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone BCS1L 617 ENSG00000074582 GRACILE syndrome, 603358 (3), Autosomal recessive; Mitochondrial complex III deficiency, nuclear type 1, 124000 (3), Autosomal recessive; Bjornstad syndrome, 262000 (3), Autosomal recessive Bcs1l (MGI:1914071) -chr2 218663873 218672001 2q35 2q35 616014 RNF25, AO7 Ring finger protein 25 RNF25 64320 ENSG00000163481 Rnf25 (MGI:1890215) -chr2 218672048 218702716 2q35 2q35 607652 STK36, FU, KIAA1278, CILD46 Serine/threonine protein kinase 36 STK36 27148 ENSG00000163482 mutation identified in 1 CILD46 patient ?Ciliary dyskinesia, primary, 46, 619436 (3), Autosomal recessive Stk36 (MGI:1920831) -chr2 218710834 218757483 2q35 2q35 618738 TTLL4 Tubulin tyrosine ligase-like 4 TTLL4 9654 ENSG00000135912 Ttll4 (MGI:1914784) -chr2 218781732 218815292 2q33-qter 2q35 606530 CYP27A1, CYP27, CTX Cytochrome P450, subfamily XXVIIA, polypeptide 1 (sterol 27-hydroxylase) CYP27A1 1593 ENSG00000135929 Cerebrotendinous xanthomatosis, 213700 (3), Autosomal recessive Cyp27a1 (MGI:88594) -chr2 218819948 218831802 2q35 2q35 604976 PRKAG3, SMGMQTL Protein kinase, AMP-activated, noncatalytic, gamma 3 PRKAG3 53632 ENSG00000115592 [Skeletal muscle glycogen content and metabolism QTL], 619030 (3), Autosomal recessive Prkag3 (MGI:1891343) -chr2 218859804 218874232 2q35 2q35 604663 WNT6 Wingless-type MMTV integration site family, member 6 WNT6 7475 ENSG00000115596 Wnt6 (MGI:98960) -chr2 218874115 218893930 2q35 2q35 606268 WNT10A, SSPS, STHAG4, OODD Wingless-type MMTV integration site family, member 10A WNT10A 80326 ENSG00000135925 Schopf-Schulz-Passarge syndrome, 224750 (3), Autosomal recessive; Tooth agenesis, selective, 4, 150400 (3), Autosomal dominant, Autosomal recessive; Odontoonychodermal dysplasia, 257980 (3), Autosomal recessive Wnt10a (MGI:108071) -chr2 218959665 218962154 2q35 2q35 603764 CDK5R2, NCK5AI Cyclin-dependent kinase 5, regulatory subunit 2 CDK5R2 8941 ENSG00000171450 Cdk5r2 (MGI:1330828) -chr2 218981086 218985183 2q36 2q35 607150 FEV FEV transcription factor, ETS family member FEV 54738 ENSG00000163497 fused with EWS in tumors Fev (MGI:2449712) -chr2 218990189 218993421 2q34-q36 2q35 600836 CRYBA2, CTRCT42 Crystallin, beta A2 CRYBA2 1412 ENSG00000163499 mutation identified in 1 CTRCT42 family ?Cataract 42, 115900 (3), Autosomal dominant Cryba2 (MGI:104336) -chr2 219001644 219001707 2q35 2q35 611173 MIR375, MIRN375 Micro RNA 375 MIR375 494324 ENSG00000198973 Mir375 (MGI:3619376) -chr2 219002845 219043141 2q35 2q35 614270 CFAP65, CCDC108, SPGF40 Cilia- and flagella-associated protein 65 CFAP65 255101 ENSG00000181378 Spermatogenic failure 40, 618664 (3), Autosomal recessive Cfap65 (MGI:2444274) -chr2 219054423 219060920 2q33-q35 2q35 600726 IHH, BDA1 Indian hedgehog IHH 3549 ENSG00000163501 Acrocapitofemoral dysplasia, 607778 (3), Autosomal recessive; Brachydactyly, type A1, 112500 (3), Autosomal dominant Ihh (MGI:96533) -chr2 219069356 219160814 2q35 2q35 611290 NHEJ1, XLF Nonhomologous end-joining factor 1 NHEJ1 79840 ENSG00000187736 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3) Nhej1 (MGI:1922820) -chr2 219206781 219209647 2q35 2q35 613474 ZFAND2B, AIRAPL Zinc finger AN1 domain-containing protein 2B ZFAND2B 130617 ENSG00000158552 Zfand2b (MGI:1916068) -chr2 219209771 219218957 2q36 2q35 605452 ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2 ATP-binding cassette, subfamily B, member 6 ABCB6 10058 ENSG00000115657 Microphthalmia, isolated, with coloboma 7, 614497 (3), Autosomal dominant; Dyschromatosis universalis hereditaria 3, 615402 (3), Autosomal dominant; [Blood group, Langereis system], 111600 (3); Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3), Autosomal dominant Abcb6 (MGI:1921354) -chr2 219219379 219229635 2q35 2q35 612204 ATG9A, APG9L1 Autophagy related 9A ATG9A 79065 ENSG00000198925 Atg9a (MGI:2138446) -chr2 219229805 219236678 2q35 2q35 617541 ANKZF1, ZNF744 Ankyrin repeat- and zinc finger domain-containing 1 ANKZF1 55139 ENSG00000163516 Ankzf1 (MGI:1098746) -chr2 219245468 219250336 2q35 2q35 604719 STK16, TSF1 Serine/threonine protein kinase 16 STK16 8576 ENSG00000115661 Stk16 (MGI:1313271) -chr2 219249709 219254739 2q35 2q35 191110 TUBA4A, TUBA1, ALS22 Tubulin, alpha-4A TUBA4A 7277 ENSG00000127824 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 (3), Autosomal dominant Tuba4a (MGI:1095410) -chr2 219279365 219286894 2q35 2q35 604139 DNAJB2, HSJ1, HSPF3, DSMA5 DnaJ, E. coli, homolog of, subfamily B, member 2 (heat-shock protein, DNAJ-like 1) DNAJB2 3300 ENSG00000135924 Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3), Autosomal recessive Dnajb2 (MGI:1928739) -chr2 219289622 219309400 2q35-q36.1 2q35 601773 PTPRN, IA2 Protein tyrosine phosphatase, receptor type N (islet cell antigen 2) PTPRN 5798 ENSG00000054356 Ptprn (MGI:102765) -chr2 219327406 219334534 2q35 2q35 612721 RESP18 Regulated endocrine-specific protein 18 RESP18 389075 ENSG00000182698 Resp18 (MGI:1098222) -chr2 219372042 219400006 2q35 2q35 611367 DNPEP, ASPEP, DAP Aspartyl aminopeptidase DNPEP 23549 ENSG00000123992 Dnpep (MGI:1278328) -chr2 219418376 219426733 2q35 2q35 125660 DES, CMD1I, MFM1, SCPNK Desmin DES 1674 ENSG00000175084 Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3), Autosomal dominant; Cardiomyopathy, dilated, 1I, 604765 (3), Autosomal dominant; Myopathy, myofibrillar, 1, 601419 (3), Autosomal dominant, Autosomal recessive Des (MGI:94885) -chr2 219434214 219493628 2q35 2q35 615950 SPEG, APEG1, CNM5 SPEG complex locus SPEG 10290 ENSG00000072195 Centronuclear myopathy 5, 615959 (3), Autosomal recessive Speg (MGI:109282) -chr2 219498890 219506988 2q35 2q35 615495 GMPPA, AAMR GDP-mannose pyrophosphorylase A GMPPA 29926 ENSG00000144591 Alacrima, achalasia, and mental retardation syndrome, 615510 (3), Autosomal recessive Gmppa (MGI:1916330) -chr2 219514481 219538771 2q35-q36 2q35 606715 ACCN4, ASIC4, BNAC4 Cation channel, amiloride-sensitive, neuronal, 4 ASIC4 55515 ENSG00000072182 Asic4 (MGI:2652846) -chr2 219538948 219543808 2q36.1 2q35 610405 CHPF, CSS2 Chondroitin polymerizing factor CHPF 79586 ENSG00000123989 Chpf (MGI:106576) -chr2 219549407 219571572 2q35 2q35 610991 OBSL1, KIAA0657, 3M2 Obscurin-like 1 OBSL1 23363 ENSG00000124006 3-M syndrome 2, 612921 (3), Autosomal recessive Obsl1 (MGI:2138628) -chr2 219572309 219575710 2q33-q36 2q35 147380 INHA Inhibin, alpha INHA 3623 ENSG00000123999 proximal to PAX3 Inha (MGI:96569) -chr2 219597856 219616450 2q36 2q35 607172 STK11IP, KIAA1898, LIP1 Serine/threonine kinase 11 interacting protein STK11IP 114790 ENSG00000144589 Stk11ip (MGI:1918978) -chr2 219627629 219641979 2q36 2q35 106195 SLC2C, AE3 Anion exchanger 3, neuronal SLC4A3 6508 ENSG00000114923 Slc4a3 (MGI:109350) -chr2 220700000 230100000 2q36.1-q36.3 613238 SPDA3 Spondyloarthropathy, susceptibility to, 3 100379218 max lod at D2S2228 {Spondyloarthropathy, susceptibility to, 3}, 613238 (2) -chr2 221418026 221574201 2q36.1 2q36.1 602188 EPHA4, HEK8, TYRO1 Ephrin receptor EphA4 EPHA4 2043 ENSG00000116106 Epha4 (MGI:98277) -chr2 222199886 222298997 2q36.1 2q36.1 606597 PAX3, WS1, HUP2, CDHS, WS3 Paired box homeotic gene-3 PAX3 5077 ENSG00000135903 Craniofacial-deafness-hand syndrome, 122880 (3), Autosomal dominant; Waardenburg syndrome, type 3, 148820 (3), Autosomal dominant, Autosomal recessive; Waardenburg syndrome, type 1, 193500 (3), Autosomal dominant; Rhabdomyosarcoma 2, alveolar, 268220 (3), Somatic mutation Pax3 (MGI:97487) -chr2 222423987 222562620 2q36.1 2q36.1 612827 SGPP2, SPP2 Sphingosine-1-phosphate phosphatase 2 SGPP2 130367 ENSG00000163082 Sgpp2 (MGI:3589109) -chr2 222566898 222656091 2q36 2q36.1 609690 FARSB, FARSLB, RILDBC1 Phenylalanine-tRNA synthetase-like, beta subunit FARSB 10056 ENSG00000116120 Rajab interstitial lung disease with brain calcifications 1, 613658 (3), Autosomal recessive Farsb (MGI:1346035) -chr2 222671657 222709929 2q36.1 2q36.1 610268 MOGAT1, MGAT1, DGAT2L1 Monoacylglycerol O-acyltransferase 1 MOGAT1 116255 ENSG00000124003 Mogat1 (MGI:1915643) -chr2 222861035 222944638 2q34-q35 2q36.1 602371 ACSL3, FACL3, ACS3 Acyl-CoA synthetase long-chain family member 3 ACSL3 2181 ENSG00000123983 Acsl3 (MGI:1921455) -chr2 223052189 223055636 2q35-q36 2q36.1 607775 KCNE4, MIRP3 Potassium channel, voltage-gated, ISK-related subfamily, member 4 KCNE4 23704 Kcne4 (MGI:1891125) -chr2 223596939 223602360 2q35-q36 2q36.1 118930 SCG2, CHGC Secretogranin II (chromogranin C) SCG2 7857 ENSG00000171951 Scg2 (MGI:103033) -chr2 223755325 223837581 2q36.1 2q36.1 615781 AP1S3, PSORS15 Adaptor-related protein complex 1, sigma-3 subunit AP1S3 130340 ENSG00000152056 {Psoriasis 15, pustular, susceptibility to}, 616106 (3), Autosomal dominant Ap1s3 (MGI:1891304) -chr2 223875347 223945334 2q36.1 2q36.1 618080 WDFY1, FENS1 WD repeat-and FYVE domain-containing protein 1 WDFY1 57590 ENSG00000085449 Wdfy1 (MGI:1916618) -chr2 223950845 223967713 2q36 2q36.1 611849 MRPL44, COXPD16 Mitochondrial ribosomal protein L44 MRPL44 65080 ENSG00000135900 Mutation identified in 1 family ?Combined oxidative phosphorylation deficiency 16, 615395 (3), Autosomal recessive Mrpl44 (MGI:1916413) -chr2 223975044 224039285 2q33-q35 2q36.1 177010 PI7, PN1, SERPINE2 Protease inhibitor 7 (protease nexin I) SERPINE2 5270 ENSG00000135919 near MYL1; ?COPD susceptibility Serpine2 (MGI:101780) -chr2 224378697 224402106 2q36.2 2q36.2 618403 FAM124B Family with sequence similarity 124, member B FAM124B 79843 ENSG00000124019 Fam124b (MGI:3026880) -chr2 224470149 224585362 2q36 2q36.2 603136 CUL3, PHA2E, NEDAUS Cullin 3 CUL3 8452 ENSG00000036257 Neurodevelopmental disorder with or without autism or seizures, 619239 (3), Autosomal dominant; Pseudohypoaldosteronism, type IIE, 614496 (3), Autosomal dominant Cul3 (MGI:1347360) -chr2 224765089 225042688 2q36.2 2q36.2 611518 DOCK10, KIAA0694, ZIZ3 Dedicator of cytokinesis 10 DOCK10 55619 ENSG00000135905 Dock10 (MGI:2146320) -chr2 225200000 230100000 2q36 102510 ACRPV Acropectorovertebral dysplasia (F syndrome) 414058 Acropectorovertebral dysplasia, 102510 (2), Autosomal dominant -chr2 225200000 230100000 2q36 613944 IGAN2 IgA nephropathy, susceptibility to, 2 100653384 between D2S1323 and D2S362 {IgA nephropathy, susceptibility to, 2}, 613944 (2), ?Autosomal dominant -chr2 225399709 225703653 2q36.3 2q36.3 615478 NYPA2, KIAA1486 Neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 2 NYAP2 57624 ENSG00000144460 Nyap2 (MGI:2443135) -chr2 226731311 226799819 2q36 2q36.3 147545 IRS1 Insulin receptor substrate-1 IRS1 3667 ENSG00000169047 {Type 2 diabetes mellitus, susceptibility to}, 125853 (3), Autosomal dominant; {Coronary artery disease, susceptibility to} (3) Irs1 (MGI:99454) -chr2 226800158 226999209 2q36.3 2q36.3 617515 RHBDD1, RRP4, RHBDL4 Rhomboid domain-containing 1 RHBDD1 84236 ENSG00000144468 Rhbdd1 (MGI:1924117) -chr2 226970292 227164481 2q36-q37 2q36.3 120131 COL4A4, ATS2, BFH Collagen IV, alpha-4 polypeptide COL4A4 1286 ENSG00000081052 head-to-head with COL4A4 in same YAC Hematuria, familial benign, 141200 (3), Autosomal dominant; Alport syndrome 2, autosomal recessive, 203780 (3), Autosomal recessive Col4a4 (MGI:104687) -chr2 227164588 227314791 2q36-q37 2q36.3 120070 COL4A3, ATS2, ATS3 Collagen IV, alpha-3 polypeptide (Goodpasture antigen) COL4A3 1285 ENSG00000169031 noncollagenous domain = Goodpasture antigen Hematuria, benign familial, 141200 (3), Autosomal dominant; Alport syndrome 3, autosomal dominant, 104200 (3), Autosomal dominant; Alport syndrome 2, autosomal recessive, 203780 (3), Autosomal recessive Col4a3 (MGI:104688) -chr2 227325232 227357835 2q36.3 2q36.3 614785 MFF, C2orf33, EMPF2 Mitochondrial fission factor MFF 56947 ENSG00000168958 Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3), Autosomal recessive Mff (MGI:1922984) -chr2 227362037 227379305 2q36.3 2q36.3 615404 TM4SF20, SLI5 Transmembrane 4 L6 family, member 20 TM4SF20 79853 ENSG00000168955 {Specific language impairment 5}, 615432 (3), Autosomal dominant Tm4sf20 (MGI:1913511) -chr2 227472155 227561216 2q36 2q36.3 600862 AGFG1, HRB, RIP, RAB ADP-ribosylation factor GTPase-activating protein with FG repeats 1 AGFG1 3267 ENSG00000173744 Agfg1 (MGI:1333754) -chr2 227683762 227718029 2q36.3 2q36.3 606152 SLC19A3, THMD2, BBGD Solute carrier family 19 (folate transporter), member 3 SLC19A3 80704 ENSG00000135917 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3), Autosomal recessive Slc19a3 (MGI:1931307) -chr2 227813841 227817555 2q33-q37 2q36.3 601960 CCL20, SCYA20, MIP3A, LARC Chemokine, C-C motif, ligand 20 CCL20 6364 ENSG00000115009 Ccl20 (MGI:1329031) -chr2 227979953 228181998 2q36 2q36.3 611646 SPHKAP, SKIP, KIAA1678 SPHK1 interactor, AKAP domain containing SPHKAP 80309 ENSG00000153820 Sphkap (MGI:1924879) -chr2 229023972 229271286 2q36.3 2q36.3 612930 PID1, NYGGF4 Phosphotyrosine interaction domain-containing 1 PID1 55022 ENSG00000153823 Pid1 (MGI:2138391) -chr2 229357628 229714554 2q37 2q36.3 607299 DNER Delta-and notch-like egf-related receptor DNER 92737 ENSG00000187957 Dner (MGI:2152889) -chr2 229763836 229923233 2q36.3 2q36.3 604506 TRIP12, MRD49 Thyroid hormone receptor interactor 12 TRIP12 9320 ENSG00000153827 Mental retardation, autosomal dominant 49, 617752 (3), Autosomal dominant Trip12 (MGI:1309481) -chr2 229922502 230013912 2q37.1 2q36.3 609105 FBXO36, FBX36 F-box only protein 36 FBXO36 130888 ENSG00000153832 Fbxo36 (MGI:1289192) -chr2 230100000 242193529 2q37.1-q37.3 605934 HPE6 Holoprosencephaly 6 117190 Holoprosencephaly 6, 605934 (2) -chr2 230100000 234700000 2q37.1 609995 MYP12 Myopia 12 664780 max lod at D2S2344 Myopia 12, 609995 (2) -chr2 230100000 234700000 2q37.1 613440 STQTL21 Stature quantitative trait locus 21 100502568 associated with rs6717918 {Stature QTL 21}, 613440 (2) -chr2 230165185 230225728 2q37.1 2q37.1 604457 SP110, IFI41, IFI75, VODI SP110 nuclear body protein (interferon-induced protein 41, 30kD; interferon-induced protein 75, 52kD) SP110 3431 ENSG00000135899 {Mycobacterium tuberculosis, susceptibility to}, 607948 (3); Hepatic venoocclusive disease with immunodeficiency, 235550 (3), Autosomal recessive Sp110 (MGI:1923364) -chr2 230327151 230407505 2q37.1 2q37.1 617747 SP140L Nuclear body protein SP140-like SP140L 93349 ENSG00000185404 Sp140 (MGI:3702467) -chr2 230416200 230545605 2q37.1 2q37.1 604585 SP100 Nuclear antigen SP100 SP100 6672 ENSG00000067066 Sp100 (MGI:109561) -chr2 230712841 230821074 2q37.1 2q37.1 612174 CAB39 Calcium-binding protein 39 CAB39 51719 ENSG00000135932 Cab39 (MGI:107438) -chr2 230864184 230879253 2q37 2q37.1 609554 ITM2C, BRI3 Integral membrane protein 2C ITM2C 81618 ENSG00000135916 Itm2c (MGI:1927594) -chr2 230907317 230961269 2q37 2q37.1 604107 GPR55 G protein-coupled receptor 55 GPR55 9290 ENSG00000135898 Gpr55 (MGI:2685064) -chr2 231056866 231172826 2q37.1 2q37.1 617842 PSMD1 Proteasome 26S subunit, non-ATPase, 1 PSMD1 5707 ENSG00000173692 Psmd1 (MGI:1917497) -chr2 231108229 231126171 2q36.3-q37.1 2q37.1 601122 HTR2B 5-hydroxytryptamine (serotonin) receptor-2B HTR2B 3357 ENSG00000135914 Htr2b (MGI:109323) -chr2 231198627 231394990 2q37.1 2q37.1 617612 ARMC9, KIAA1868, JBTS30 Armadillo repeat-containing protein 9 ARMC9 80210 ENSG00000135931 Joubert syndrome 30, 617622 (3), Autosomal recessive Armc9 (MGI:1926045) -chr2 231395709 231401163 2q37.1 2q37.1 615313 B3GNT7 Beta-1,3-N-acetylglucosaminyltransferase 7 B3GNT7 93010 ENSG00000156966 B3gnt7 (MGI:2384394) -chr2 231453530 231464483 2q12-qter 2q37.1 164035 NCL Nucleolin NCL 4691 ENSG00000115053 Ncl (MGI:97286) -chr2 231456443 231456522 2q37.1 2q37.1 604012 RNU20 RNA, U20 small nucleolar SNORD20 6082 ENSG00000207280 -chr2 231460367 231460441 2q12-qter 2q37.1 611133 SNORD82, RNU82 Small nucleolar RNA, C/D box, 82 SNORD82 25826 ENSG00000202400 Snord82 (MGI:1931502) -chr2 231519902 231530455 2q37.1 2q37.1 604153 NMUR1, GPR66, FM3 Neuromedin U receptor 1 NMUR1 10316 ENSG00000171596 Nmur1 (MGI:1341898) -chr2 231708524 231713550 2q36-q37 2q37.1 188390 PTMA, TMSA Prothymosin, alpha (gene sequence 28) PTMA 5757 ENSG00000187514 Ptma (MGI:97803) -chr2 231732427 231781281 2q36-q37 2q37.1 602676 PDE6D, JBTS22 Phosphodiesterase 6D PDE6D 5147 ENSG00000156973 Joubert syndrome 22, 615665 (3), Autosomal recessive Pde6d (MGI:1270843) -chr2 231781670 231809252 2q37.1 2q37.1 616010 COPS7B COP9 signalosome, subunit 7B COPS7B 64708 ENSG00000144524 Cops7b (MGI:1349388) -chr2 231921808 231926404 2q24-qter 2q37.1 600296 NPPC Natriuretic peptide precursor C NPPC 4880 ENSG00000163273 Nppc (MGI:97369) -chr2 231961712 232344349 2q37.2 2q37.1 614184 DIS3L2, PRLMNS DIS3 like exosome 3'-5' exoribonuclease 2 DIS3L2 129563 ENSG00000144535 Perlman syndrome, 267000 (3), Autosomal recessive Dis3l2 (MGI:2442555) -chr2 232378750 232382888 2q37 2q37.1 171800 ALPP Alkaline phosphatase, placental (Regan isozyme) ALPP 250 ENSG00000163283 Alppl2,Alpi (MGI:108009,MGI:1924018) -chr2 232406843 232410713 2q37 2q37.1 171810 ALPPL2 Alkaline phosphatase, placental-like 2 ALPG 251 ENSG00000163286 Alppl2,Alpi (MGI:108009,MGI:1924018) -chr2 232456152 232460752 2q37.1 2q37.1 171740 ALPI Alkaline phosphatase, intestinal ALPI 248 ENSG00000163295 close to ALPP; proximal to PAX3 Alppl2,Akp3,Alpi (MGI:108009,MGI:1924018,MGI:87984) -chr2 232479826 232487833 2q36-q37 2q37.1 605896 ECEL1, XCE, DA5D Endothelin-converting enzyme-like 1 ECEL1 9427 ENSG00000171551 Arthrogryposis, distal, type 5D, 615065 (3), Autosomal recessive Ecel1 (MGI:1343461) -chr2 232520387 232525715 2q37.1 2q37.1 613858 PRSS56, MCOP6 Protease, serine, 56 PRSS56 646960 ENSG00000237412 Microphthalmia, isolated 6, 613517 (3), Autosomal recessive Prss56 (MGI:1916703) -chr2 232526159 232537906 2q33-q34 2q37.1 100720 CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C Cholinergic receptor, nicotinic, delta polypeptide CHRND 1144 ENSG00000135902 mutation identified in 1 CMS3A patient and 1 CMS3C family ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3), Autosomal recessive; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3), Autosomal dominant Chrnd (MGI:87893) -chr2 232539691 232548114 2q33-q34 2q37.1 100730 CHRNG, ACHRG Cholinergic receptor, nicotinic, gamma polypeptide CHRNG 1146 ENSG00000196811 tightly linked to CHRND by RE Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive; Escobar syndrome, 265000 (3), Autosomal recessive Chrng (MGI:87895) -chr2 232543882 232550556 2q37.1 2q37.1 612972 TIGD1 TIGGER transposable element-derived gene 1 TIGD1 200765 ENSG00000221944 -chr2 232550688 232583643 2q37.1 2q37.1 605895 EIF4E2, EIF4EL3, 4EHP Eukaryotic translation initiation factor 4E family, member 2 EIF4E2 9470 ENSG00000135930 Eif4e2 (MGI:1914440) -chr2 232606056 232682775 2q37.1 2q37.1 611617 EFHD1 EF-hand domain family, member D1 EFHD1 80303 ENSG00000115468 Efhd1 (MGI:1921607) -chr2 232697330 232860604 2q37.1 2q37.1 612003 GIGYF2, KIAA0642, PARK11 GRB10-interacting GYF protein 2 GIGYF2 26058 ENSG00000204120 {Parkinson disease 11}, 607688 (3) Gigyf2 (MGI:2138584) -chr2 232765801 232776564 2q37 2q37.1 603208 KCNJ13, SVD, LCA16 Potassium inwardly-rectifying channel, subfamily J, member 13 KCNJ13 3769 ENSG00000115474 Snowflake vitreoretinal degeneration, 193230 (3), Autosomal dominant; Leber congenital amaurosis 16, 614186 (3), Autosomal recessive Kcnj13 (MGI:3781032) -chr2 232878685 233013255 2q37 2q37.1 605991 NGEF Neuronal guanine nucleotide exchange factor NGEF 25791 ENSG00000066248 Ngef (MGI:1858414) -chr2 233032671 233035056 2q37 2q37.1 605528 NEU2, SIAL2 Neuraminidase 2 NEU2 4759 ENSG00000115488 Neu2 (MGI:1344417) -chr2 233060341 233207902 2q36-q37 2q37.1 601582 INPP5D, SHIP Inositol polyphosphate-5-phosphatase, 145kD INPP5D 3635 ENSG00000168918 Inpp5d (MGI:107357) -chr2 233251646 233295673 2q37.1 2q37.1 610767 ATG16L1, APG16L, IBD10 Autophagy related 16 like 1 ATG16L1 55054 ENSG00000085978 {Inflammatory bowel disease (Crohn disease) 10}, 611081 (3) Atg16l1 (MGI:1924290) -chr2 233275725 233276002 2q37.1 2q37.1 615640 SCARNA5 Small Cajal body-specific RNA 5 SCARNA5 677775 ENSG00000252010 within intron 9 of ATG16L1 -chr2 233288675 233288940 2q37.1 2q37.1 615641 SCARNA6 Small Cajal body-specific RNA 6 SCARNA6 677772 ENSG00000251791 within intron 12 of ATG16L1 -chr2 233307815 233347065 2q37.1 2q37.1 181031 SAG, RP47 S-antigen; retina and pineal gland (arrestin) SAG 6295 ENSG00000130561 Retinitis pigmentosa 47, 613758 (3); Oguchi disease-1, 258100 (3), Autosomal recessive Sag (MGI:98227) -chr2 233354493 233472097 2q37.1 2q37.1 601826 DGKD Diacylglycerol kinase, delta, 130kD DGKD 8527 ENSG00000077044 Dgkd (MGI:2138334) -chr2 233475520 233566788 2q37.1 2q37.1 610570 USP40 Ubiquitin-specific protease 40 USP40 55230 ENSG00000085982 Usp40 (MGI:2443184) -chr2 233617632 233773299 2q37 2q37.1 606433 UGT1A8 UDP-glycosyltransferase 1 family, polypeptide A8 UGT1A8 54576 ENSG00000242366 Ugt1a7c,Ugt1a9,Ugt1a10 (MGI:3576092,MGI:3580642,MGI:3032636) -chr2 233636447 233773299 2q37 2q37.1 606435 UGT1A10 UDP-glycosyltransferase 1 family, polypeptide A10 UGT1A10 54575 ENSG00000242515 Ugt1a7c,Ugt1a9,Ugt1a10 (MGI:3576092,MGI:3580642,MGI:3032636) -chr2 233671897 233773299 2q37 2q37.1 606434 UGT1A9 UDP-glycosyltransferase 1 family, polypeptide A9 UGT1A9 54600 ENSG00000241119 Ugt1a7c,Ugt1a9,Ugt1a10 (MGI:3576092,MGI:3580642,MGI:3032636) -chr2 233681900 233773299 2q37 2q37.1 606432 UGT1A7 UDP-glycosyltransferase 1 family, polypeptide A7 UGT1A7 54577 ENSG00000244122 Ugt1a7c,Ugt1a9,Ugt1a10 (MGI:3576092,MGI:3580642,MGI:3032636) -chr2 233691701 233773299 2q37 2q37.1 606431 UGT1A6 UDP-glycosyltransferase 1 family, polypeptide A6 UGT1A6 54578 ENSG00000167165 Ugt1a6b (MGI:3580629) -chr2 233712906 233773299 2q37 2q37.1 606430 UGT1A5 UDP-glycosyltransferase 1 family, polypeptide A5 UGT1A5 54579 ENSG00000288705 Ugt1a2 (MGI:3576049) -chr2 233718735 233773299 2q37 2q37.1 606429 UGT1A4, UGT1D UDP-glycosyltransferase 1 family, polypeptide A4 UGT1A4 54657 ENSG00000244474 Ugt1a5 (MGI:3032634) -chr2 233729041 233773299 2q37 2q37.1 606428 UGT1A3, UGT1C UDP-glycosyltransferase 1 family, polypeptide A3 UGT1A3 54659 ENSG00000288702 Ugt1a2 (MGI:3576049) -chr2 233760269 233773299 2q37 2q37.1 191740 UGT1A1, UGT1, GNT1, BILIQTL1 UDP glycosyltransferase 1 family, polypeptide A1 UGT1A1 54658 ENSG00000241635 Crigler-Najjar syndrome, type I, 218800 (3), Autosomal recessive; [Bilirubin, serum level of, QTL1], 601816 (3); Hyperbilirubinemia, familial transient neonatal, 237900 (3), Autosomal recessive; Crigler-Najjar syndrome, type II, 606785 (3), Autosomal recessive; [Gilbert syndrome], 143500 (3), Autosomal recessive Ugt1a1 (MGI:98898) -chr2 233836701 233854534 2q37.1 2q37.1 612667 HJURP Holliday junction recognition protein HJURP 55355 ENSG00000123485 Hjurp (MGI:2685821) -chr2 233917341 234019521 2q37 2q37.1 606678 TRPM8, TRPP8 Transient receptor potential cation channel, subfamily M, member 8 TRPM8 79054 ENSG00000144481 Trpm8 (MGI:2181435) -chr2 234050666 234077133 2q37-qter 2q37.1 602637 SPP2 Secreted phosphoprotein-2, 24kD SPP2 6694 ENSG00000072080 Spp2 (MGI:1922646) -chr2 234493040 234497080 2q37.1 2q37.1 604787 ARL4C, ARL7 ADP ribosylation factor-like GTPase 4C ARL4C 10123 ENSG00000188042 Arl4c (MGI:2445172) -chr2 234952016 235055713 2q37.1-q37.2 2q37.2 605611 SH3BP4, BOG25 SH3 domain-binding protein 4 SH3BP4 23677 ENSG00000130147 Sh3bp4 (MGI:2138297) -chr2 235494042 236131794 2q37.2 2q37.2 608651 AGAP1, CENTG2, KIAA1099 Arf GTPase-activating protein with GTPase domain, ankyrin repeat, and pleckstrin homology domain 1 AGAP1 116987 ENSG00000157985 Agap1 (MGI:2653690) -chr2 236165235 236168385 2q36-q37 2q37.2 601135 GBX2 Gastrulation brain homeobox 2 GBX2 2637 ENSG00000168505 Gbx2 (MGI:95668) -chr2 236400000 242193529 2q37 600430 BDMR, C2DELq37, DEL2q37 Chromosome 2q37 deletion syndrome Chromosome 2q37 deletion syndrome, 600430 (4), Autosomal dominant -chr2 236537130 236582357 2q37 2q37.3 610376 ACKR3, CXCR7, CMKOR1, GPR159, RDC1 Atypical chemokine receptor 3 ACKR3 57007 ENSG00000144476 mutation identified in 1 OCABSN family ?Oculomotor-abducens synkinesis, 619215 (3), Autosomal recessive Ackr3 (MGI:109562) -chr2 237085888 237100473 2q37.3 2q37.3 616011 COPS8, CSN8 COP9 signalosome, subunit 8 COPS8 10920 ENSG00000198612 Cops8 (MGI:1915363) -chr2 237324017 237434821 2q37 2q37.3 120250 COL6A3, DYT27, BTHLM1, UCMD1 Collagen VI, alpha-3 polypeptide COL6A3 1293 ENSG00000163359 close to CRBP1 Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal dominant, Autosomal recessive; Dystonia 27, 616411 (3), Autosomal recessive; Bethlem myopathy 1, 158810 (3), Autosomal dominant, Autosomal recessive Col6a3 (MGI:88461) -chr2 237486409 237555321 2q37 2q37.3 606526 MLPH Melanophilin MLPH 79083 ENSG00000115648 Griscelli syndrome, type 3, 609227 (3), Autosomal recessive Mlph (MGI:2176380) -chr2 237566573 237567174 2q37.3 2q37.3 602663 PRLH, PRRP Prolactin-releasing hormone PRLH 51052 ENSG00000071677 Prlh (MGI:3644668) -chr2 237574321 237591120 2q37.3 2q37.3 602206 RAB17 Ras-associated protein RAB17 64284 ENSG00000124839 Rab17 (MGI:104640) -chr2 237627575 237781642 2q37.3 2q37.3 603256 LRRFIP1, GCF2, TRIP, FLAP1 Leucine-rich repeat in FLII-interacting protein 1 LRRFIP1 9208 ENSG00000124831 Lrrfip1 (MGI:1342770) -chr2 237858554 237912113 2q36-q37.1 2q37.3 605153 RAMP1 Receptor activity-modifying protein 1 RAMP1 10267 ENSG00000132329 Ramp1 (MGI:1858418) -chr2 237967013 238042781 2q37.3 2q37.3 617700 UBE2F, NCE2 Ubiquitin-conjugating enzyme E2F UBE2F 140739 ENSG00000184182 Ube2f (MGI:1915171) -chr2 238061000 238099412 2q37.3 2q37.3 611056 SCLY, SCL Selenocysteine lyase SCLY 51540 ENSG00000132330 Scly (MGI:1355310) -chr2 238158969 238168889 2q37.3 2q37.3 615099 ERFE, FAM132B, CTRP15 Erythroferrone ERFE 151176 ENSG00000178752 Erfe (MGI:3606476) -chr2 238170400 238203701 2q37.3 2q37.3 618909 ILKAP, PP2CD ILK-associated serine/threonine phosphatase ILKAP 80895 ENSG00000132323 Ilkap (MGI:1914694) -chr2 238238266 238240037 2q37.3 2q37.3 610331 HES6 Hes family bHLH transcription factor 6 HES6 55502 ENSG00000144485 Hes6 (MGI:1859852) -chr2 238244037 238290101 2q37.3 2q37.3 603426 PER2, FASPS1, KIAA0347 Period circadian regulator 2 PER2 8864 ENSG00000132326 mutation identified in 1 FASPS1 family ?Advanced sleep phase syndrome, familial, 1, 604348 (3), Autosomal dominant Per2 (MGI:1195265) -chr2 238320488 238400899 2q37.3 2q37.3 607380 TRAF3IP1, MIPT3, SLSN9 TNF receptor-associated factor 3-interacting protein 1 TRAF3IP1 26146 ENSG00000204104 Senior-Loken syndrome 9, 616629 (3), Autosomal recessive Traf3ip1 (MGI:1921269) -chr2 238426926 238452249 2q37 2q37.3 605758 ASB1 Ankyrin repeat-containing SOCS box protein 1 ASB1 51665 ENSG00000065802 Asb1 (MGI:1929735) -chr2 238848084 238910533 2q37.3 2q37.3 607556 TWIST2, DERMO1, SETLSS, FFDD3, BBRSAY, AMS Twist, Drosophila, homolog of, 2 (dermis-expressed protein 1, mouse, homolog of) TWIST2 117581 ENSG00000233608 Ablepharon-macrostomia syndrome, 200110 (3), Autosomal dominant; Barber-Say syndrome, 209885 (3), Autosomal dominant; Focal facial dermal dysplasia 3, Setleis type, 227260 (3), Autosomal recessive Twist2 (MGI:104685) -chr2 239048167 239401648 2q37.2 2q37.3 605314 HDAC4, HDACA Histone deacetylase 4 HDAC4 9759 ENSG00000068024 Hdac4 (MGI:3036234) -chr2 239892441 240025342 2q37.3 2q37.3 603835 NDUFA10, MC1DN22 NADH-ubiquinone oxidoreductase subunit A10 NDUFA10 4705 ENSG00000130414 Mitochondrial complex I deficiency, nuclear type 22, 618243 (3), Autosomal recessive Ndufa10 (MGI:1914523) -chr2 240126547 240136801 2q37 2q37.3 619349 COPS9, CSNAP, MYEOV2 COP9 signalosome, subunit 9 COPS9 150678 ENSG00000172428 Cops9 (MGI:1914165) -chr2 240138941 240141372 2q37.3 2q37.3 607877 OTOSP Otospiralin OTOS 150677 ENSG00000178602 Otos (MGI:2672814) -chr2 240435662 240468075 2q35-q37 2q37.3 600395 GPC1 Glypican 1 GPC1 2817 ENSG00000063660 Gpc1 (MGI:1194891) -chr2 240456000 240456088 2q37.3 2q37.3 615209 MIR149 Micro RNA 149 MIR149 406941 ENSG00000207611 Mir149 (MGI:2676834) -chr2 240568483 240581371 2q37.3 2q37.3 605287 RNPEPL1 Arginyl aminopeptidase-like 1 (aminopeptidase B-like) RNPEPL1 57140 ENSG00000142327 Rnpepl1 (MGI:1914170) -chr2 240586733 240599103 2q37.3 2q37.3 605286 CAPN10, NIDDM1 Calpain-10 CAPN10 11132 ENSG00000142330 {Diabetes mellitus, noninsulin-dependent 1}, 601283 (3) Capn10 (MGI:1344392) -chr2 240605429 240633158 2q37.3 2q37.3 602646 GPR35 G protein-coupled receptor-35 GPR35 2859 ENSG00000178623 Gpr35 (MGI:1929509) -chr2 240691865 240698482 2q34-q37 2q37.3 609789 AQP12A, AQPX2, AQP12 Aquaporin 12A AQP12A 375318 ENSG00000184945 Aqp12 (MGI:2664636) -chr2 240713766 240821402 2q37 2q37.3 601255 KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9 Kinesin family member 1A KIF1A 547 ENSG00000130294 incorrectly assigned to chr.9 NESCAV syndrome, 614255 (3), Autosomal dominant; Neuropathy, hereditary sensory, type IIC, 614213 (3), Autosomal recessive; Spastic paraplegia 30, autosomal dominant, 610357 (3), Autosomal dominant, Autosomal recessive; Spastic paraplegia 30, autosomal recessive, 610357 (3), Autosomal dominant, Autosomal recessive Kif1a (MGI:108391) -chr2 240868823 240880499 2q36-q37 2q37.3 604285 AGXT, SPAT Alanine-glyoxylate aminotransferase, liver-specific peroxisomal AGXT 189 ENSG00000172482 Hyperoxaluria, primary, type 1, 259900 (3), Autosomal recessive Agxt (MGI:1329033) -chr2 240997409 241095567 2q37.3 2q37.3 616634 SNED1, SNEP SUSHI, NIDOGEN, and EGF-like domains protein 1 SNED1 25992 ENSG00000162804 Sned1 (MGI:3045960) -chr2 241072167 241102320 2q37.3 2q37.3 615393 MTERF4, MTERFD2 Mitochondrial transcription termination factor 4 MTERF4 130916 ENSG00000122085 Mterf4 (MGI:1918355) -chr2 241106098 241150263 2q37.3 2q37.3 607505 PASK, KIAA0135 Pas domain-containing serine-threonine kinase PASK 23178 ENSG00000115687 Pask (MGI:2155936) -chr2 241149572 241183651 2q37.3 2q37.3 602877 PPP1R7, SDS22 Protein phosphatase 1, regulatory subunit 7 PPP1R7 5510 ENSG00000115685 Ppp1r7 (MGI:1913635) -chr2 241188550 241239601 2q37.3 2q37.3 605096 TMEM16G, PCANAP5, IPCA5, DTMPP, NGEP Transmembrane protein 16G ANO7 50636 ENSG00000146205 Ano7 (MGI:3052714) -chr2 241227290 241315814 2q37 2q37.3 142695 HDLBP, VGL High-density lipoprotein-binding protein HDLBP 3069 ENSG00000115677 Hdlbp,Gm382 (MGI:2685228,MGI:99256) -chr2 241315269 241354026 2q37 2q37.3 601506 SEPT2, NEDD5, DIFF6 Septin 2 SEPTIN2 4735 ENSG00000168385 Septin2 (MGI:97298) -chr2 241356284 241494840 2q37.3 2q37.3 617586 FARP2, FRG, FIR FERM, ARHGEF, and pleckstrin domain-containing protein 2 FARP2 9855 ENSG00000006607 Farp2 (MGI:2385126) -chr2 241492669 241509729 2q37.3 2q37.3 602255 STK25, SOK1, YSK1 Serine/threonine protein kinase 25 STK25 10494 ENSG00000115694 Stk25 (MGI:1891699) -chr2 241558744 241574130 2q37.3 2q37.3 605404 BOK, BCL2L9 BCL2-related ovarian killer BOK 666 ENSG00000176720 Bok (MGI:1858494) -chr2 241584404 241637542 2q37.3 2q37.3 612533 THAP4 THAP domain-containing protein 4 THAP4 51078 ENSG00000176946 Thap4 (MGI:1914276) -chr2 241637658 241673856 2q37.3 2q37.3 611338 ATG4B, APG4B, KIAA0943 Autophagy related 4B cysteine peptidase ATG4B 23192 ENSG00000168397 Atg4b (MGI:1913865) -chr2 241675746 241686814 2q37.3 2q37.3 188345 DTYMK, TYMK, CDC8 Deoxythymidylate kinase DTYMK 1841 ENSG00000168393 Dtymk (MGI:108396) -chr2 241687016 241729480 2q37.3 2q37.3 608525 ING5 Inhibitor of growth-5 ING5 84289 ENSG00000168395 Ing5 (MGI:1922816) -chr2 241734628 241768815 2q37.3 2q37.3 609186 D2HGDH, D2HGD D-2-hydroxyglutarate dehydrogenase D2HGDH 728294 ENSG00000180902 D-2-hydroxyglutaric aciduria, 600721 (3), Autosomal recessive D2hgdh (MGI:2138209) -chr2 241776821 241804286 2q37.3 2q37.3 608237 GAL3ST2, GP3ST Galactose-3-O-sulfotransferase 2 GAL3ST2 64090 ENSG00000154252 Gal3st2,Gal3st2c (MGI:2685834,MGI:3646771) -chr2 241809192 241817412 2q37.3 2q37.3 608527 NEU4 Neuraminidase 4 NEU4 129807 ENSG00000204099 Neu4 (MGI:2661364) -chr2 241849880 241858907 2q37.3 2q37.3 600244 PDCD1, SLEB2 Programmed cell death 1 PDCD1 5133 ENSG00000188389 {Multiple sclerosis, disease progression, modifier of}, 126200 (3), Multifactorial; {Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3) Pdcd1 (MGI:104879) -chr2 0 242193529 Chr.2 601136 TSE2 Transsuppressor of expression 2 57324 -chr3 0 90900000 3p 607135 CRCL Creatinine clearance QTL 261727 in African Americans Creatinine clearance QTL, 607135 (2) -chr3 0 16300000 3pter-p25 613792 DEL3pterp25, C3DELpterp25 3p- syndrome (chromosome 3pter-p25 deletion syndrome) contiguous gene deletion syndrome 3p- syndrome, 613792 (4), Autosomal dominant -chr3 196587 409416 3p26.1 3p26.3 607416 CHL1, CALL, L1CAM2 CHL1, mouse, homolog of (L1 cell adhesion molecule 2) CHL1 10752 ENSG00000134121 Chl1 (MGI:1098266) -chr3 978020 1404216 3p26-p25 3p26.3 607220 CNTN6, NB3 Contactin 6 CNTN6 27255 ENSG00000134115 Cntn6 (MGI:1858223) -chr3 2098865 3059079 3p26-p25 3p26.3-p26.2 607280 CNTN4 Contactin 4 CNTN4 152330 ENSG00000144619 Cntn4 (MGI:1095737) -chr3 3066323 3110413 3p26-p24 3p26.2 147851 IL5RA Interleukin-5 receptor, alpha IL5RA 3568 ENSG00000091181 Il5ra (MGI:96558) -chr3 3126936 3153434 3p25.1 3p26.2 612907 TRNT1, SIFD, RPEM tRNA nucleotidyltransferase, CCA-adding, 1 TRNT1 51095 ENSG00000072756 pseudogenes on chromosomes 1 and 22 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3), Autosomal recessive; Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3), Autosomal recessive Trnt1 (MGI:1917297) -chr3 3148489 3179716 3p26.2 3p26.2 609262 CRBN, MRT2 Cereblon CRBN 51185 ENSG00000113851 between D3S3525 and D3S1560 Mental retardation, autosomal recessive 2, 607417 (3), Autosomal recessive Crbn (MGI:1913277) -chr3 4000000 16300000 3p26.1-p25.1 612976 ARHI2 Age-related hearing impairment 2 100302721 associated with rs11928865, rs779701, and rs779706 {Age-related hearing impairment 2}, 612976 (2) -chr3 4000000 8100000 3p26 609299 HPC5 Prostate cancer, hereditary, 5 619402 between D3S1270 and D3S4559 {Prostate cancer, hereditary, 5}, 609299 (2) -chr3 4000000 8100000 3p26 608448 IBD9 Inflammatory bowel disease 9 317669 {Inflammatory bowel disease 9}, 608448 (2) -chr3 4000000 26300000 3p26-p24.2 252350 MYMY1, MYMY Moyamoya disease 50960 max lod at D3S3050 Moyamoya disease, 252350 (2), Autosomal recessive -chr3 4000000 8100000 3p26 608982 STQTL5 Stature quantitative trait locus 5 619479 max lod between D3S1297 and D3S1304 {Stature QTL 5}, 608982 (2) -chr3 4034713 4467269 3p26 3p26.1 607939 SUMF1, FGE Sulfatase-modifying factor-1 SUMF1 285362 ENSG00000144455 Multiple sulfatase deficiency, 272200 (3), Autosomal recessive Sumf1 (MGI:1889844) -chr3 4303368 4320648 3p26 3p26.1 609834 SETMAR, METNASE SET and Mariner transposase domains-containing protein SETMAR 6419 ENSG00000170364 Setmar (MGI:1921979) -chr3 4493347 4847505 3p26.1 3p26.1 147265 ITPR1, SCA15, SCA16, SCA29 Inositol 1,4,5-triphosphate receptor, type 1 ITPR1 3708 ENSG00000150995 Gillespie syndrome, 206700 (3), Autosomal dominant, Autosomal recessive; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3), Autosomal dominant; Spinocerebellar ataxia 15, 606658 (3), Autosomal dominant Itpr1 (MGI:96623) -chr3 4749191 4751589 3p26.2 3p26.1 611662 EGO Eosinophil granule ontogeny EGOT 100126791 ENSG00000235947 -chr3 4979419 4985322 3p26 3p26.1 604256 BHLHE40, HLHB2, STRA13, DEC1 Basic helix-loop-helix family, member E40 BHLHE40 8553 ENSG00000134107 Bhlhe40 (MGI:1097714) -chr3 5122291 5180910 3p26.1 3p26.1 616596 ARL8B, GIE1 ADP ribosylation factor-like GTPase 8B ARL8B 55207 ENSG00000134108 Arl8b (MGI:1914416) -chr3 5187706 5219962 3p26.1 3p26.1 607673 EDEM, KIAA0212 ER degradation-enhancing alpha-mannosidase-like protein EDEM1 9695 ENSG00000134109 Edem1 (MGI:2180139) -chr3 6861114 7743037 3p26.1 3p26.1 604101 GRM7, MGLUR7, NEDSHBA Glutamate receptor, metabotropic, 7 GRM7 2917 ENSG00000196277 Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, 618922 (3), Autosomal recessive Grm7 (MGI:1351344) -chr3 8501822 8574667 3p26-p24 3p25.3 604859 LMCD1 LIM and cysteine-rich domains 1 LMCD1 29995 ENSG00000071282 Lmcd1 (MGI:1353635) -chr3 8571781 8574667 3p25.3 3p25.3 610485 LINC00312, LOH3CR2A Long intergenic non-protein coding RNA 312 LINC00312 29931 -chr3 8619385 8745034 3p26.1-p25.3 3p25.3 617479 SSUH2, C3orf32, FLS485 Ssu2, C. elegans, homolog of SSUH2 51066 ENSG00000125046 Ssu2 (MGI:2443733) -chr3 8733801 8746757 3p25 3p25.3 601253 CAV3, LQT9, MPDT, RMD2 Caveolin-3 CAV3 859 ENSG00000182533 within 7-10kb of OXTR Myopathy, distal, Tateyama type, 614321 (3), Autosomal dominant; Creatine phosphokinase, elevated serum, 123320 (3), Autosomal dominant; Cardiomyopathy, familial hypertrophic, 192600 (3), Digenic dominant, Autosomal dominant; Rippling muscle disease 2, 606072 (3), Autosomal dominant; Long QT syndrome 9, 611818 (3), Autosomal dominant Cav3 (MGI:107570) -chr3 8750380 8769612 3p26.2 3p25.3 167055 OXTR Oxytocin receptor OXTR 5021 ENSG00000180914 3p25 by others; within 7-10kb of CAV3 Oxtr (MGI:109147) -chr3 8877074 8969248 3p25-p24 3p25.3 605256 RAD18 RAD18 E3 ubiquitin protein ligase RAD18 56852 ENSG00000070950 Rad18 (MGI:1890476) -chr3 8980590 9363445 3p25 3p25.3 606525 SRGAP3, KIAA0411, MEGAP Slit-robo GTPase-activating protein, rho, 3 SRGAP3 9901 ENSG00000196220 Srgap3 (MGI:2152938) -chr3 9397614 9478153 3p25.3 3p25.3 615743 SETD5, KIAA1757 SET domain-containing protein 5 SETD5 55209 ENSG00000168137 Mental retardation, autosomal dominant 23, 615761 (3), Autosomal dominant Setd5 (MGI:1920145) -chr3 9498360 9553821 3p25 3p25.3 610240 LHFPL4 LHFP tetraspan subfamily, member 4 LHFPL4 375323 ENSG00000156959 Lhfpl4 (MGI:3057108) -chr3 9649464 9702392 3p25.3 3p25.3 611089 MTMR14, C3orf29, HJUMPY Myotubularin-related protein 14 MTMR14 64419 ENSG00000163719 {Centronuclear myopathy, autosomal, modifier of}, 160150 (3), Autosomal dominant Mtmr14 (MGI:1916075) -chr3 9731728 9748014 3p26-p25 3p25.3 602410 BRPF1, BR140, IDDDFP Bromodomain- and PHD finger-containing protein 1, 140kD BRPF1 7862 ENSG00000156983 Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3), Autosomal dominant Brpf1 (MGI:1926033) -chr3 9749951 9788245 3p26.2 3p25.3 601982 OGG1 8-hydroxyguanine DNA glycosylase OGG1 4968 ENSG00000114026 Renal cell carcinoma, clear cell, somatic, 144700 (3) Ogg1 (MGI:1097693) -chr3 9757344 9769986 3p25.3 3p25.3 604998 CAMK1, CAMKI Calcium/calmodulin-dependent protein kinase I CAMK1 8536 ENSG00000134072 Camk1 (MGI:1098535) -chr3 9779966 9793010 3p25.3 3p25.3 602945 TADA3, TADA3L, ADA3 Transcriptional adaptor 3 TADA3 10474 ENSG00000171148 Tada3 (MGI:1915724) -chr3 9792517 9807100 3p25.3 3p25.3 604226 ARPC4, ARC20 Actin-related protein 2/3 complex, subunit 4 ARPC4 10093 ENSG00000241553 Arpc4 (MGI:1915339) -chr3 9809726 9836364 3p25.3 3p25.3 619195 TTLL3 Tubulin tyrosine ligase-like 3 TTLL3 26140 ENSG00000214021 Ttll3 (MGI:2141418) -chr3 9836252 9844058 3p25.3 3p25.3 617759 RPUSD3 RNA pseudouridylate synthase domain-containing protein 3 RPUSD3 285367 ENSG00000156990 Rpusd3 (MGI:2141440) -chr3 9866709 9880252 3p25 3p25.3 612120 CIDEC, FSP27, CIDE3, FPLD5 Cell death-inducing DFFA-like effector C CIDEC 63924 ENSG00000187288 1 patient identified with mutation ?Lipodystrophy, familial partial, type 5, 615238 (3), Autosomal recessive Cidec (MGI:95585) -chr3 9890609 9894348 3p25.3 3p25.3 616012 JAGN1, SCN6 Jagunal homolog 1 JAGN1 84522 ENSG00000171135 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3), Autosomal recessive Jagn1 (MGI:1915017) -chr3 9902086 9916401 3p25.3 3p25.3 614995 IL17RE Interleukin 17 receptor E IL17RE 132014 ENSG00000163701 Il17re (MGI:1889371) -chr3 9917097 9933626 3p25.3-p24.1 3p25.3 610925 IL17RC, IL17RL, CANDF9 Interleukin 17 receptor C IL17RC 84818 ENSG00000163702 Candidiasis, familial, 9, 616445 (3), Autosomal recessive Il17rc (MGI:2159336) -chr3 9933787 9945405 3p25.3 3p25.3 607170 CRELD1, AVSD2 Cysteine-rich protein with EGF-like domains 1 CRELD1 78987 ENSG00000163703 Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3), Autosomal dominant; {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3), Autosomal dominant Creld1 (MGI:2152539) -chr3 9947403 9954786 3p25.3 3p25.3 619106 PRRT3AS1 PRRT3 antisense RNA 1, noncoding PRRT3-AS1 100874032 ENSG00000230082 -chr3 10026436 10101931 3p25.3 3p25.3 613984 FANCD2, FANCD, FACD, FAD Fanconi anemia, complementation group D2 FANCD2 2177 ENSG00000144554 Fanconi anemia, complementation group D2, 227646 (3), Autosomal recessive Fancd2 (MGI:2448480) -chr3 10115674 10127189 3p25.3 3p25.3 611183 BRK1, C3orf10, HSPC300 BRICK1, SCAR/WAVE actin-nucleating complex subunit BRK1 55845 ENSG00000254999 Brk1 (MGI:1915406) -chr3 10141777 10153666 3p26-p25 3p25.3 608537 VHL von Hippel-Lindau tumor suppressor VHL 7428 ENSG00000134086 Hemangioblastoma, cerebellar, somatic (3); Erythrocytosis, familial, 2, 263400 (3), Autosomal recessive; von Hippel-Lindau syndrome, 193300 (3), Autosomal dominant; Renal cell carcinoma, somatic, 144700 (3); Pheochromocytoma, 171300 (3), Autosomal dominant Vhl (MGI:103223) -chr3 10164918 10243744 3p25.3 3p25.3 603304 IRAK2 Interleukin 1 receptor-associated kinase 2 IRAK2 3656 ENSG00000134070 Irak2 (MGI:2429603) -chr3 10248458 10281217 3p25.3 3p25.3 619330 TATDN2, KIAA0218 TatD DNase domain-containing protein 2 TATDN2 9797 ENSG00000157014 Tatdn2 (MGI:3576210) -chr3 10280951 10293448 3p25.3 3p25.3 618445 GHRLOS Ghrelin opposite strand, noncoding GHRLOS 100126793 ENSG00000240288 -chr3 10285665 10292946 3p26-p25 3p25.3 605353 GHRL Ghrelin GHRL 51738 ENSG00000157017 {Obesity, susceptibility to}, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive Ghrl (MGI:1930008) -chr3 10300930 10321111 3p25-p24 3p25.3 600152 SEC13, SEC13L1, D3S1231E, SEC13R SEC13 homolog, nuclear pore and COPII coat complex component SEC13 6396 ENSG00000157020 Sec13 (MGI:99832) -chr3 10324022 10707961 3p26-p25 3p25.3 108733 ATP2B2, PMCA2 ATPase, Ca++ transporting, plasma membrane, 2 ATP2B2 491 ENSG00000157087 {Deafness, autosomal recessive 12, modifier of}, 601386 (3), Autosomal recessive Atp2b2 (MGI:105368) -chr3 10816199 10940713 3p25.3 3p25.3 607952 SLC6A11, GAT3, GAT4 Solute carrier family 6 (neurotransmitter transporter, GABA), member 11 SLC6A11 6538 ENSG00000132164 Slc6a11 (MGI:95630) -chr3 10992747 11039246 3p25-p24 3p25.3 137165 SLC6A1, GABATR, MAE Solute carrier family 6 (neurotransmitter transporter, GABA), member 1 SLC6A1 6529 ENSG00000157103 Myoclonic-atonic epilepsy, 616421 (3), Autosomal dominant Slc6a1 (MGI:95627) -chr3 11137237 11263556 3p21-p14 3p25.3 600167 HRH1 Histamine receptor, subclass H1 HRH1 3269 ENSG00000196639 Hrh1 (MGI:107619) -chr3 11272347 11564651 3p25.3 3p25.3 608760 ATG7, APG7L, GSA7, SCAR31 Autophagy related 7 ATG7 10533 ENSG00000197548 Spinocerebellar ataxia, autosomal recessive 31, 619422 (3), Autosomal recessive Atg7 (MGI:1921494) -chr3 11556066 11720714 3p25 3p25.3-p25.2 618692 VGLL4, KIAA0121 Vestigial-like family member 4 VGLL4 9686 ENSG00000144560 Vgll4 (MGI:2652840) -chr3 11600000 16300000 3p25.2-p25.1 606661 UVM2 Melanoma, uveal, susceptibility to, 2 170593 {Melanoma, uveal, susceptibility to, 2}, 606661 (2) -chr3 11721895 11846899 3p25.2 3p25.2 614948 TAMM41, RAM41, C3orf31 Translocator assembly and maintenance, mitochondrial, S. cerevisiae, homolog of TAMM41 132001 ENSG00000144559 Tamm41 (MGI:1916221) -chr3 12004365 12192031 3p25 3p25.2 600755 SYN2 Synapsin II SYN2 6854 ENSG00000157152 {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant Syn2 (MGI:103020) -chr3 12153067 12158911 3p25 3p25.2 601915 TIMP4 Tissue inhibitor of metalloproteinase 4 TIMP4 7079 ENSG00000157150 Timp4 (MGI:109125) -chr3 12287367 12434343 3p25 3p25.2 601487 PPARG, PPARG1, PPARG2, CIMT1, GLM1 Peroxisome proliferator activated receptor, gamma PPARG 5468 ENSG00000132170 PPARG1, PPARG2 from same gene {Diabetes, type 2}, 125853 (3), Autosomal dominant; Insulin resistance, severe, digenic, 604367 (3), Autosomal dominant; Lipodystrophy, familial partial, type 3, 604367 (3), Autosomal dominant; [Obesity, resistance to] (3); Obesity, severe, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive; Carotid intimal medial thickness 1, 609338 (3) Pparg (MGI:97747) -chr3 12484455 12539623 3p25.1 3p25.2 608753 TSEN2, SEN2, PCH2B tRNA splicing endonuclease, subunit 2 TSEN2 80746 ENSG00000154743 Pontocerebellar hypoplasia type 2B, 612389 (3), Autosomal recessive Tsen2 (MGI:2141599) -chr3 12557086 12583712 3p25 3p25.2 608426 MKRN2 Makorin 2 MKRN2 23609 ENSG00000075975 Mkrn2 (MGI:1914277) -chr3 12583600 12664116 3p25 3p25.2 164760 RAF1, CRAF, NS5, CMD1NN Oncogene RAF1 RAF1 5894 ENSG00000132155 Cardiomyopathy, dilated, 1NN, 615916 (3), Autosomal dominant; Noonan syndrome 5, 611553 (3), Autosomal dominant; LEOPARD syndrome 2, 611554 (3) Raf1 (MGI:97847) -chr3 12796653 12834817 3p25.2 3p25.2 610403 CAND2, TIP120B, KIAA0667 Cullin-associated neddylation -dissociated 2 CAND2 23066 ENSG00000144712 Cand2 (MGI:1914338) -chr3 12897042 13283256 3p25.2 3p25.2-p25.1 610166 IQSEC1, KIAA0763, IDDSSBA IQ motif- and Sec7 domain-containing protein 1 IQSEC1 9922 ENSG00000144711 Intellectual developmental disorder with short stature and behavioral abnormalities, 618687 (3), Autosomal recessive Iqsec1 (MGI:1196356) -chr3 13200000 32000000 3p25.1-p23 613530 LGMD1H Muscular dystrophy, limb-girdle, type 1H 100529230 between D3S1263 and D3S1277 Muscular dystrophy, limb-girdle, type 1H, 613530 (2), Autosomal dominant -chr3 13200000 43600000 3p25-p22 607893 OVCAS1 Ovarian cancer, susceptibility to, 1 574048 between D3S1597 and D3S3611 {Ovarian cancer, susceptibility to}, 607893 (2) -chr3 13316234 13420321 3p25.1 3p25.1 607703 NUP210, GP210, KIAA0906 Nucleoporin, 210kD NUP210 23225 ENSG00000132182 Nup210 (MGI:1859555) -chr3 13549124 13638403 3p25-p24 3p25.1 135821 FBLN2 Fibulin-2 FBLN2 2199 ENSG00000163520 Fbln2 (MGI:95488) -chr3 13816257 13880070 3p25 3p25.1 601570 WNT7A Wingless-type MMTV integration site family, member 7A WNT7A 7476 ENSG00000154764 Fuhrmann syndrome, 228930 (3), Autosomal recessive; Ulna and fibula, absence of, with severe limb deficiency, 276820 (3), Autosomal recessive Wnt7a (MGI:98961) -chr3 13937306 14065983 3p25.1 3p25.1 611167 TPRXL Tetrapeptide repeat homeobox-like TPRXL 348825 ENSG00000180438 -chr3 14112076 14124869 3p25.1 3p25.1 611077 CHDH4, MIA40 Coiled-coil-helix-coiled-coil-helix domain-containing protein 4 CHCHD4 131474 ENSG00000163528 Chchd4 (MGI:1919420) -chr3 14125005 14143679 3p25 3p25.1 612048 TMEM43, ARVD5, ARVC5, EDMD7 Transmembrane protein 43 TMEM43 79188 ENSG00000170876 Arrhythmogenic right ventricular dysplasia 5, 604400 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3), Autosomal dominant Tmem43 (MGI:1921372) -chr3 14145144 14178600 3p25 3p25.1 613208 XPC, XPCC XPC complex subunit, DNA damage recognition and repair factor XPC 7508 ENSG00000154767 Xeroderma pigmentosum, group C, 278720 (3), Autosomal recessive Xpc (MGI:103557) -chr3 14178816 14201121 3p25.1 3p25.1 607283 LSM3 LSM3 protein LSM3 27258 ENSG00000170860 Lsm3 (MGI:1914928) -chr3 14402575 14489348 3p25-q24 3p25.1 186854 SLC6A6, TAUT, HTRDC Solute carrier family 6 (neurotransmitter transporter, taurine), member 6 SLC6A6 6533 ENSG00000131389 Hypotaurinemic retinal degeneration and cardiomyopathy, 145350 (3), Autosomal recessive Slc6a6 (MGI:98488) -chr3 14651761 14672658 3p25.1 3p25.1 616735 CCDC174, HSPC212, IHPM Coiled-coil domain-containing protein 174 CCDC174 51244 ENSG00000154781 Hypotonia, infantile, with psychomotor retardation, 616816 (3), Autosomal recessive Ccdc174 (MGI:2444652) -chr3 14818961 14934570 3p25.1 3p25.1 614788 FGD5 FYVE, RhoGEF, and PH domain-containing protein 5 FGD5 152273 ENSG00000154783 Fgd5 (MGI:2443369) -chr3 14947582 15049272 3p25 3p25.1 601426 NR2C2, TR4, TAK1 Nuclear receptor subfamily 2, group C, member 2 NR2C2 7182 ENSG00000177463 Nr2c2 (MGI:1352466) -chr3 15042250 15065314 3p25 3p25.1 611987 MRPS25, COXPD50 Mitochondrial ribosomal protein S25 MRPS25 64432 ENSG00000131368 mutation identified in 1 COXPD50 patient ?Combined oxidative phosphorylation deficiency 50, 619025 (3), Autosomal recessive Mrps25 (MGI:1928140) -chr3 15070068 15099162 3p25.1 3p25.1 609511 RBSN, ZFYVE20 Rabenosyn 5 RBSN 64145 ENSG00000131381 Rbsn (MGI:1925537) -chr3 15165361 15205958 3p24.3 3p25.1 612397 COL6A4P1, DVWA, DIVA, LOC344875 Collagen, type VI, alpha 4, pseudogene 1 COL6A4P1 344875 ENSG00000230524 -chr3 15206245 15252915 3p24 3p25.1 606400 CAPN7, PALBH Calpain 7 CAPN7 23473 ENSG00000131375 Capn7 (MGI:1338030) -chr3 15254352 15341379 3p25.1 3p25.1 605612 SH3BP5, SAB SH3 domain-binding protein 5 SH3BP5 9467 ENSG00000131370 previously mapped to 1q431 Sh3bp5 (MGI:1344391) -chr3 15381274 15427579 3p35.1 3p25.1 618903 METTL6 Methyltransferase-like 6 METTL6 131965 ENSG00000206562 Mettl6 (MGI:1914261) -chr3 15427597 15442612 3p25.1 3p25.1 608315 EAF1 ELL-associated factor 1 EAF1 85403 ENSG00000144597 Eaf1 (MGI:1921677) -chr3 15450132 15521705 3p25 3p25.1 603033 COLQ, EAD, CMS5 Collagenic tail of endplate acetylcholinesterase COLQ 8292 ENSG00000206561 Myasthenic syndrome, congenital, 5, 603034 (3), Autosomal recessive Colq (MGI:1338761) -chr3 15560698 15601568 3p25.1 3p25.1 604300 HACL1, HPCL2 2-hydroxyacyl-CoA lyase 1 HACL1 26061 ENSG00000131373 Hacl1 (MGI:1929657) -chr3 15601351 15722515 3p25 3p25.1 609019 BTD Biotinidase BTD 686 ENSG00000169814 Biotinidase deficiency, 253260 (3), Autosomal recessive Btd (MGI:1347001) -chr3 15667235 15859813 3p25.1 3p25.1 611122 ANKRD28, PITK, KIAA0379 Ankyrin repeat domain-containing protein 28 ANKRD28 23243 ENSG00000206560 Ankrd28 (MGI:2145661) -chr3 16174578 16248223 3p25.1 3p25.1 615131 GALNT15, GALNACT15 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 GALNT15 117248 ENSG00000131386 Galnt15 (MGI:1926004) -chr3 16257060 16264942 3p24.3 3p25.1 608959 DPH3, KTI11, ZCSL2, DELGIP1 Diphthamide biosynthesis protein 3 DPH3 285381 ENSG00000154813 Dph3 (MGI:1922658) -chr3 16300000 23800000 3p24.3 612401 OS6 Osteoarthritis susceptibility 6 100286836 associated with rs11718863 and rs7639618 {Osteoarthritis susceptibility 6}, 612401 (2) -chr3 16315844 16513698 3p24.3 3p24.3 618210 RFTN1, KIAA0084 Lipid raft linking protein 1 RFTN1 23180 ENSG00000131378 Rftn1 (MGI:1923688) -chr3 16586791 16605422 3p24 3p24.3 601486 DAZL, DAZH, SPGYLA Deleted in azoospermia-like DAZL 1618 ENSG00000092345 ?founding member of DAZ gene family {Spermatogenic failure, susceptibility to} (3) Dazl (MGI:1342328) -chr3 16802690 17090605 3p25-p24 3p24.3 614276 PLCL2, KIAA1092 Phospholipase C-like 2 PLCL2 23228 ENSG00000154822 Plcl2 (MGI:1352756) -chr3 17157161 17742738 3p24.3 3p24.3 615740 TBC1D5, KIAA0210 TBC1 domain family, member 5 TBC1D5 9779 ENSG00000131374 Tbc1d5 (MGI:1919488) -chr3 18345376 18445591 3p23 3p24.3 602075 SATB1, DEFDA, KTZSL Special AT-rich sequence binding protein-1 SATB1 6304 ENSG00000182568 Kohlschutter-Tonz syndrome-like, 619229 (3), Autosomal dominant; Developmental delay with dysmorphic facies and dental anomalies, 619228 (3), Autosomal dominant Satb1 (MGI:105084) -chr3 19148509 19535641 3p24.3 3p24.3 608260 KCNH8, ELK1 Potassium channel, voltage-gated, subfamily H, member 8 KCNH8 131096 ENSG00000183960 Kcnh8 (MGI:2445160) -chr3 19947096 19985174 3p24-p22 3p24.3 179512 RAB5A, RAB5 RAS-associated protein RAB5A RAB5A 5868 ENSG00000144566 Rab5a (MGI:105926) -chr3 20040406 20154403 3p24 3p24.3 602303 CAF CREBBP-associated factor KAT2B 8850 ENSG00000114166 Kat2b (MGI:1343094) -chr3 20160592 20188142 3p24.3 3p24.3 609168 SGOL1, SGO, SGO1, CAID Shugoshin-like 1 SGO1 151648 ENSG00000129810 Chronic atrial and intestinal dysrhythmia, 616201 (3), Autosomal recessive Sgo1 (MGI:1919665) -chr3 23203006 23591924 3p24.2 3p24.3 602163 UBE2E2 Ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5) UBE2E2 7325 ENSG00000182247 Ube2e2 (MGI:2384997) -chr3 23800000 32000000 3p24.2-p23 611634 FEB9 Febrile seizures, familial, 9 100188849 between D3S3727 and D3S3567 Febrile seizures, familial, 9, 611634 (2), Autosomal dominant -chr3 23805954 23891639 3p24.3-p24.2 3p24.2 602916 UBE2E1, UBCH6 Ubiquitin-conjugating enzyme E2E 1 UBE2E1 7324 ENSG00000170142 Ube2e1 (MGI:107411) -chr3 23889948 23946561 3p24.2 3p24.2 604496 NKIRAS1, KBRAS1 NFKB inhibitor-interacting Ras-like protein 1 NKIRAS1 28512 ENSG00000197885 Nkiras1 (MGI:1916971) -chr3 23916544 23924630 3p24.2 3p24.2 604174 RPL15, DBA12 Ribosomal protein L15 RPL15 6138 ENSG00000174748 mutation identified in 1 family ?Diamond-Blackfan anemia 12, 615550 (3), Autosomal dominant Rpl15 (MGI:1913730) -chr3 23945285 23980617 3p24.3 3p24.2 602304 NR1D2, RVR, BD73 Nuclear receptor subfamily 1, group D, member 2 NR1D2 9975 ENSG00000174738 Nr1d2 (MGI:2449205) -chr3 24117152 24495707 3p24.3 3p24.2 190160 THRB, ERBA2, THR1, PRTH Thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog-2) THRB 7068 ENSG00000151090 Thyroid hormone resistance, autosomal recessive, 274300 (3), Autosomal recessive; Thyroid hormone resistance, 188570 (3), Autosomal dominant; Thyroid hormone resistance, selective pituitary, 145650 (3), Autosomal dominant Thrb (MGI:98743) -chr3 24829320 25597931 3p24 3p24.2 180220 RARB, HAP, MCOPS12 Retinoic acid receptor, beta polypeptide RARB 5915 ENSG00000077092 = HAP = HBV-activated protein Microphthalmia, syndromic 12, 615524 (3), Autosomal dominant, Autosomal recessive Rarb (MGI:97857) -chr3 25597904 25664906 3p24 3p24.2 126431 TOP2B Topoisomerase (DNA) II, beta, 180kD TOP2B 7155 ENSG00000077097 Top2b (MGI:98791) -chr3 25718943 25790038 3p24 3p24.2 610661 NGLY1, PNG1, CDDG, CDG1V N-glycanase 1 NGLY1 55768 ENSG00000151092 Congenital disorder of deglycosylation, 615273 (3), Autosomal recessive Ngly1 (MGI:1913276) -chr3 25788282 25794533 3p24.2 3p24.2 610324 OXSM, KS 3-oxoacyl-ACP synthase, mitochondrial OXSM 54995 ENSG00000151093 Oxsm (MGI:1918397) -chr3 26300000 54400000 3p24-p21 609954 ASPG4 Asperger syndrome, susceptibility to, 4 100188800 max lod at D3S2432 {Asperger syndrome susceptibility 4}, 609954 (2) -chr3 26300000 30800000 3p24 613519 ATOD9 Dermatitis, atopic, 9 105463126 max lod at D3S1768 {Dermatitis, atopic, susceptibility to, 9}, 613519 (2) -chr3 26300000 43600000 3p24-p22 608088 HSN1B Hereditary sensory neuropathy, type IB 378888 max lod at D3S2338 Neuropathy, hereditary sensory, type IB, 608088 (2), Autosomal dominant -chr3 26300000 52300000 3p24-p21.2 609649 TRICY1 Trichilemmal cyst 1 94014 max lod at D3S1277 Trichilemmal cyst 1, 609649 (2), Autosomal dominant -chr3 26622771 26717300 3p24 3p24.1 618996 LRRC3B, LRP15 Leucine-rich repeat-containing protein 3B LRRC3B 116135 ENSG00000179796 Lrrc3b (MGI:2384996) -chr3 27106483 27369459 3p24 3p24.1 618726 NEK10, CILD44 NIMA-related kinase 10 NEK10 152110 ENSG00000163491 Ciliary dyskinesia, primary, 44, 618781 (3), Autosomal recessive Nek10 (MGI:2685128) -chr3 27372720 27484419 3p22 3p24.1 603353 SLC4A7, NBC2, NBC3 Solute carrier family 4, sodium bicarbonate cotransporter, member 7 SLC4A7 9497 ENSG00000033867 Slc4a7 (MGI:2443878) -chr3 27715952 27722712 3p21.3-p21.2 3p24.1 604615 EOMES, TBR2 Eomesodermin, Xenopus laevis, homolog of EOMES 8320 ENSG00000163508 ?translocation separating regulatory element from promoter Eomes (MGI:1201683) -chr3 28241592 28325141 3p24 3p24.1 615166 CMC1, C3orf68 Cytochrome C oxidase assembly mitochondrial protein 1, S. cerevisiae, homolog of CMC1 152100 ENSG00000187118 Cmc1 (MGI:1915149) -chr3 28321046 28349277 3p24.1 3p24.1 609916 AZI2, AZ2, NAP1, TILP 5-azacytidine-induced protein 2 AZI2 64343 ENSG00000163512 Azi2 (MGI:1351332) -chr3 29280859 30010394 3p24-p23 3p24.1 605786 RBMS3 RNA-binding motif protein, single strand-interacting, 3 RBMS3 27303 ENSG00000144642 Rbms3 (MGI:2444477) -chr3 30606471 30694141 3p24.1 3p24.1 190182 TGFBR2, HNPCC6, AAT3, MFS2, LDS2 Transforming growth factor, beta receptor II, 70-80kD TGFBR2 7048 ENSG00000163513 Loeys-Dietz syndrome 2, 610168 (3), Autosomal dominant; Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3); Esophageal cancer, somatic, 133239 (3) Tgfbr2 (MGI:98729) -chr3 30726008 30894660 3p24.1 3p24-p23 615601 GADL1 Glutamate decarboxylase-like 1 GADL1 339896 ENSG00000144644 Gadl1 (MGI:1920998) -chr3 30800000 54400000 3p23-p21 182280 SCLC1 Small-cell cancer of lung 7864 centromeric to ERBA2 Small-cell cancer of lung, 182280 (2), Autosomal dominant -chr3 31532637 31637620 3p23 3p23 608605 STT3B, SIMP, CDG1X STT3B, subunit of the oligosaccharyltransferase complex (catalytic) STT3B 201595 ENSG00000163527 mutation identified in 1 family ?Congenital disorder of glycosylation, type Ix, 615597 (3), Autosomal recessive Stt3b (MGI:1915542) -chr3 31660824 31981300 3p25.3-p22 3p23 606738 OSBPL10, ORP10 Oxysterol-binding protein-like protein 10 OSBPL10 114884 ENSG00000144645 Osbpl10 (MGI:1921736) -chr3 32106619 32168714 3p22.3 3p22.3 611778 GPD1L, KIAA0089 Glycerol-3-phosphate dehydrogenase 1-like GPD1L 23171 ENSG00000152642 Brugada syndrome 2, 611777 (3) Gpd1l (MGI:1289257) -chr3 32238679 32370320 3p22.3 3p22.3 607891 CMTM8, CKLFSF8 CKLF-like marvel transmembrane domain-containing 8 CMTM8 152189 ENSG00000170293 Cmtm8 (MGI:2447167) -chr3 32391824 32455527 3p22.3 3p22.3 607890 CMTM7, CKLFSF7 CKLF-like marvel transmembrane domain-containing 7 CMTM7 112616 ENSG00000153551 Cmtm7 (MGI:2447166) -chr3 32481311 32502851 3p22.3 3p22.3 607889 CMTM6, CKLFSF6 CKLF-like marvel transmembrane domain-containing 6 CMTM6 54918 ENSG00000091317 Cmtm6 (MGI:2447165) -chr3 32525973 32570857 3p22.3 3p22.3 615890 DYNC1LI1, LIC1 Dynein, cytoplasmic 1, light intermediate chain 1 DYNC1LI1 51143 ENSG00000144635 Dync1li1 (MGI:2135610) -chr3 32817996 32897823 3p22.3 3p22.3 618570 TRIM71, LIN41, HYDCC1 Tripartite motif-containing protein 71 TRIM71 131405 ENSG00000206557 Hydrocephalus, congenital communicating, 1, 618667 (3), Autosomal dominant Trim71 (MGI:2685973) -chr3 32951554 32956348 3p24 3p22.3 604836 CCR4, CKR4, CMKBR4 Chemokine (C-C) receptor-4 CCR4 1233 ENSG00000183813 Ccr4 (MGI:107824) -chr3 32961107 33097145 3p21.33 3p22.3 611458 GLB1, MPS4B Galactosidase, beta-1 GLB1 2720 ENSG00000170266 3p14.2-p11 excluded GM1-gangliosidosis, type I, 230500 (3), Autosomal recessive; GM1-gangliosidosis, type III, 230650 (3), Autosomal recessive; Mucopolysaccharidosis type IVB (Morquio), 253010 (3), Autosomal recessive; GM1-gangliosidosis, type II, 230600 (3), Autosomal recessive Glb1 (MGI:88151) -chr3 33114013 33147772 3p22 3p22.3 605497 CRTAP, CASP, OI7 Cartilage-associated protein CRTAP 10491 ENSG00000170275 Osteogenesis imperfecta, type VII, 610682 (3), Autosomal recessive Crtap (MGI:1891221) -chr3 33277024 33422697 3p22.3 3p22.3 605652 FBXL2, FBL2 F-box and leucine-rich repeat protein 2 FBXL2 25827 ENSG00000153558 Fbxl2 (MGI:1919429) -chr3 33388335 33440404 3p23 3p22.3 609784 UBP1, LBP1A, LBP1B Upstream binding protein 1 UBP1 7342 ENSG00000153560 Ubp1 (MGI:104889) -chr3 33496244 33718355 3p22.3 3p22.3 605853 CLASP2 CLIP-associated protein 2 CLASP2 23122 ENSG00000163539 Clasp2 (MGI:1923749) -chr3 33798629 33869702 3p22.3 3p22.3 608074 PDCD6IP, AIP1, ALIX, KIAA1375 Programmed cell death 6-interacting protein PDCD6IP 10015 ENSG00000170248 Pdcd6ip (MGI:1333753) -chr3 35638852 35798932 3p22.3 3p22.3 605488 ARPP21, RCS Cyclic AMP-regulated phosphoprotein, 21kD ARPP21 10777 ENSG00000172995 Arpp21 (MGI:107562) -chr3 35744475 35744558 3p22 3p22.3 611769 MIR128-2, MIR128B, MIRN128-2 Micro RNA 128-2 MIR128-2 406916 ENSG00000207625 Mir128-2 (MGI:3618709) -chr3 36380342 36548006 3p24-p22 3p22.3-p22.2 602317 STAC SRC homology three (SH3) and cysteine-rich domain STAC 6769 ENSG00000144681 Stac (MGI:1201400) -chr3 36400000 39300000 3p22.2 615612 DDH2 Developmental dysplasia of the hip 2 102775567 between rs4481097 and rs4626072 Developmental dysplasia of the hip 2, 615612 (2), Autosomal dominant -chr3 36712420 36764552 3p22.3 3p22.2 613167 DCLK3, DCK3, CLR Doublecortin-like kinase 3 DCLK3 85443 ENSG00000163673 Dclk3 (MGI:3039580) -chr3 36826816 36945661 3p22.2 3p22.2 619316 TRANK1, KIAA0342 Tetratricopeptide repeat- and ankyrin repeat-containing protein 1 TRANK1 9881 ENSG00000168016 Trank1 (MGI:1341834) -chr3 36985042 36993130 3p22.1 3p22.2 607911 EPM2AIP1, KIAA0766 EPM2A-interacting protein 1 EPM2AIP1 9852 ENSG00000178567 Epm2aip1 (MGI:1925031) -chr3 36993486 37050845 3p21.3 3p22.2 120436 MLH1, COCA2, HNPCC2, MMRCS1 DNA mismatch repair protein MLH1 MLH1 4292 ENSG00000076242 Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3); Muir-Torre syndrome, 158320 (3), Autosomal dominant; Mismatch repair cancer syndrome 1, 276300 (3), Autosomal recessive Mlh1 (MGI:101938) -chr3 37052625 37176816 3p22.2 3p22.2 614043 LRRFIP2 Leucine-rich repeat in FLII-interacting protein 2 LRRFIP2 9209 ENSG00000093167 Lrrfip2 (MGI:1918518) -chr3 37243268 37366878 3p22-p21.3 3p22.2 602509 GOLGA4 Golgin A4 GOLGA4 2803 ENSG00000144674 Golga4 (MGI:1859646) -chr3 37379110 37435496 3p22.2 3p22.2 611429 APRG1, C3orf35 APRG1 tumor suppressor candidate APRG1 339883 ENSG00000198590 -chr3 37452140 37823506 3p21.3 3p22.2 603963 ITGA9 Integrin, alpha-9 ITGA9 3680 ENSG00000144668 Itga9 (MGI:104756) -chr3 37969403 37969479 3p22.2 3p22.2 612151 MIR26A, MIRN26A1 Micro RNA 26A1 MIR26A1 407015 ENSG00000199075 Mir26a-1 (MGI:2676900) -chr3 38007495 38029641 3p22-p21.3 3p22.2 602142 PLCD1, NDNC3 Phospholipase C, delta-1 PLCD1 5333 ENSG00000187091 Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3), Autosomal dominant, Autosomal recessive Plcd1 (MGI:97614) -chr3 38038594 38124024 3p22-p21.3 3p22.2 604050 DLEC1, DLC1 Deleted in lung and esophageal cancer 1 DLEC1 9940 ENSG00000008226 Dlec1 (MGI:2443671) -chr3 38122709 38137126 3p23-p22 3p22.2 604054 ACAA1 Acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) ACAA1 30 ENSG00000060971 Acaa1b,Acaa1a (MGI:3605455,MGI:2148491) -chr3 38138660 38143021 3p22-p21.3 3p22.2 602170 MYD88, MYD88D, IMD68 MYD88 innate immune signal transduction adaptor MYD88 4615 ENSG00000172936 Macroglobulinemia, Waldenstrom, somatic, 153600 (3); Immunodeficiency 68, 612260 (3), Autosomal recessive Myd88 (MGI:108005) -chr3 38165050 38255485 3p22-p21.3 3p22.2 604046 OSR1 Oxidative stress-responsive 1 OXSR1 9943 ENSG00000172939 Oxsr1 (MGI:1917378) -chr3 38265811 38278756 3p22.2 3p22.2 604047 SLC22A13, ORCTL3, OCTL1 Solute carrier family 22 (organic anion/urate transporter), member 13 SLC22A13 9390 ENSG00000172940 Slc22a13 (MGI:2143107) -chr3 38281661 38318574 3p22.2 3p22.2 604048 SLC22A14, ORCTL4, OCTL2 Solute carrier family 22, member 14 SLC22A14 9389 ENSG00000144671 Slc22a14 (MGI:2685974) -chr3 38346784 38453040 3p22-p21.3 3p22.2 604049 XYLB Xylulokinase, H. influenzae, homolog of XYLB 9942 ENSG00000093217 Xylb (MGI:2142985) -chr3 38453889 38493141 3p22-p21.3 3p22.2 602730 ACVR2B, ACTRIIB, HTX4 Activin A receptor, type IIB ACVR2B 93 ENSG00000114739 Heterotaxy, visceral, 4, autosomal, 613751 (3) Acvr2b (MGI:87912) -chr3 38496126 38526303 3p22-p21.3 3p22.2 604051 EXOG, ENDOGL1, ENGL Endo/exonuclease, ENDOG-like EXOG 9941 ENSG00000157036 Exog (MGI:2143333) -chr3 38548060 38649686 3p22.2 3p22.2 600163 SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2 Sodium channel, voltage-gated, type V, alpha polypeptide SCN5A 6331 ENSG00000183873 Ventricular fibrillation, familial, 1, 603829 (3); Heart block, progressive, type IA, 113900 (3), Autosomal dominant; Cardiomyopathy, dilated, 1E, 601154 (3), Autosomal dominant; Heart block, nonprogressive, 113900 (3), Autosomal dominant; Long QT syndrome 3, 603830 (3), Autosomal dominant; Sick sinus syndrome 1, 608567 (3), Autosomal recessive; Brugada syndrome 1, 601144 (3), Autosomal dominant; Atrial fibrillation, familial, 10, 614022 (3), Autosomal dominant; {Sudden infant death syndrome, susceptibility to}, 272120 (3), Autosomal recessive Scn5a (MGI:98251) -chr3 38696806 38816216 3p22.2 3p22.2 604427 SCN10A, FEPS2 Sodium voltage-gated channel, alpha subunit 10 SCN10A 6336 ENSG00000185313 Episodic pain syndrome, familial, 2, 615551 (3), Autosomal dominant Scn10a (MGI:108029) -chr3 38845763 39051943 3p22.2 3p22.2 604385 SCN11A, HSAN7, FEPS3 Sodium voltage-gated channel, alpha subunit 11 SCN11A 11280 ENSG00000168356 Episodic pain syndrome, familial, 3, 615552 (3), Autosomal dominant; Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3), Autosomal dominant Scn11a (MGI:1345149) -chr3 39052001 39096665 3p21.33 3p22.2 612167 WDR48, KIAA1449 WD repeat-containing protein 48 WDR48 57599 ENSG00000114742 Wdr48 (MGI:1914811) -chr3 39096598 39107842 3p21.3 3p22.2 606867 GORASP1, GOLPH5, GRASP65, P65 Golgi reassembly stacking protein 1, 65kD GORASP1 64689 ENSG00000114745 Gorasp1 (MGI:1921748) -chr3 39107679 39139008 3p21.3 3p22.2 611430 TTC21A, STI2, SPGF37 Tetratricopeptide repeat domain-containing protein 21A TTC21A 199223 ENSG00000168026 Spermatogenic failure 37, 618429 (3), Autosomal recessive Ttc21a (MGI:1921302) -chr3 39141854 39154640 3p22 3p22.2 606458 AXUD1 Axin1 upregulated CSRNP1 64651 ENSG00000144655 Csrnp1 (MGI:2387989) -chr3 39183213 39192620 3p22.2 3p22.2 609777 CMYA1, XIN Cardiomyopathy-associated protein 1 XIRP1 165904 ENSG00000168334 Xirp1 (MGI:1333878) -chr3 39263493 39281734 3pter-p21 3p22.2 601470 CX3CR1, GPR13, V28 Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13) CX3CR1 1524 ENSG00000168329 {Rapid progression to AIDS from HIV1 infection}, 609423 (3); {Macular degeneration, age-related, 12}, 613784 (3); {Coronary artery disease, resistance to}, 607339 (3) Cx3cr1 (MGI:1333815) -chr3 39300000 43600000 3p22 614836 HHV8S Human herpesvirus 8, susceptibility to 101056702 {Human herpesvirus 8, susceptibility to}, 614836 (2) -chr3 39329708 39333679 3p22 3p22.1 601834 CCR8, CMKBR8, CMKBRL2, CKRL1 Chemokine (C-C) receptor 8 CCR8 1237 ENSG00000179934 Ccr8 (MGI:1201402) -chr3 39383352 39397350 3p22.1 3p22.1 610819 SLC25A38, SIDBA2 Solute carrier family 25, member 38 SLC25A38 54977 ENSG00000144659 Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3), Autosomal recessive Slc25a38 (MGI:2384782) -chr3 39406719 39412541 3p21.3 3p22.1 150370 RPSA, LAMR1, LAMBR, ICAS Ribosomal protein SA RPSA 3921 ENSG00000168028 Asplenia, isolated congenital, 271400 (3), Autosomal dominant Rpsa (MGI:105381) -chr3 39411053 39411206 3p22.1 3p22.1 180646 SNORA62, RNU108, RNE2 Small nucleolar RNA, H/ACA box, 62 SNORA62 6044 ENSG00000202363 Snora62 (MGI:2148179) -chr3 39467679 39529496 3p22-p21 3p22.1 600948 MOBP Myelin-associated oligodendrocyte basic protein MOBP 4336 ENSG00000168314 Mobp (MGI:108511) -chr3 39808913 40260320 3p21.33-p21.32 3p22.1 611790 MYRIP, SLAC2C Myosin VIIA- and RAB-interacting protein MYRIP 25924 ENSG00000170011 Myrip (MGI:2384407) -chr3 40387181 40428743 3p21.3 3p22.1 603161 ENTPD3, CD39L3 Ectonucleoside triphosphate diphosphohydrolase 3 ENTPD3 956 ENSG00000168032 Entpd3 (MGI:1321386) -chr3 40457338 40468586 3p22.1 3p22.1 617414 RPL14 Ribosomal protein L14 RPL14 9045 ENSG00000188846 Rpl14 (MGI:1914365) -chr3 41199421 41240444 3p22.1 3p22.1 116806 CTNNB1, NEDSDV, EVR7 Catenin (cadherin-associated protein), beta 1, 88kD CTNNB1 1499 ENSG00000168036 Exudative vitreoretinopathy 7, 617572 (3), Autosomal dominant; Pilomatricoma, somatic, 132600 (3); Colorectal cancer, somatic, 114500 (3); Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 (3), Autosomal dominant; Medulloblastoma, somatic, 155255 (3); Ovarian cancer, somatic, 167000 (3); Hepatocellular carcinoma, somatic, 114550 (3) Ctnnb1 (MGI:88276) -chr3 41246598 41962102 3p22.1 3p22.1 617010 ULK4, FAM7C1 Unc51-like kinase 4 ULK4 54986 ENSG00000168038 Ulk4 (MGI:1921622) -chr3 42013801 42225889 3p25.3-p24.1 3p22.1 608112 TRAK1, OIP106, KIAA1042, DEE68 Trafficking protein, kinesin-binding 1 TRAK1 22906 ENSG00000182606 Developmental and epileptic encephalopathy 68, 618201 (3), Autosomal recessive Trak1 (MGI:1914345) -chr3 42257825 42266184 3pter-p21 3p22.1 118440 CCK Cholecystokinin CCK 885 ENSG00000187094 Cck (MGI:88297) -chr3 42360765 42411793 3p21.33 3p22.1 612750 LYZL4 Lysozyme-like 4 LYZL4 131375 ENSG00000157093 Lyzl4 (MGI:1916282) -chr3 42489298 42537572 3p22 3p22.1 192321 VIPR1 Vasoactive intestinal peptide receptor 1 VIPR1 7433 ENSG00000114812 incorrectly assigned to 2q37 Vipr1 (MGI:109272) -chr3 42547968 42603126 3p22.1 3p22.1 604028 SEC22C SEC22 homolog C, vesicle trafficking protein SEC22C 9117 ENSG00000093183 Sec22c (MGI:2447871) -chr3 42581839 42596933 3p21 3p22.1 606473 SS18L2 SS18-like gene 2 SS18L2 51188 ENSG00000008324 Ss18l2 (MGI:1349474) -chr3 42600006 42648734 3p22.1 3p22.1 161565 NKTR Natural tumor-killer recognition sequence NKTR 4820 ENSG00000114857 mouse gene close to Cck Nktr (MGI:97346) -chr3 42685536 42692543 3p22.1 3p22.1 615340 KLHL40, SYRP, KBTBD5, NEM8 Kelch-like 40 KLHL40 131377 ENSG00000157119 Nemaline myopathy 8, autosomal recessive, 615348 (3), Autosomal recessive Klhl40 (MGI:1919580) -chr3 42692662 42702848 3p22.1 3p22.1 608116 HHATL, MBOAT3, C3orf3, KIAA1173 Hedgehog acyltransferase-like protein HHATL 57467 ENSG00000010282 Hhatl (MGI:1922020) -chr3 42782907 42804489 3p22.1 3p22.1 618623 HIGD1A, HIG1, RCF1A HIG1 hypoxia-inducivle domain family, member 1A HIGD1A 25994 ENSG00000181061 Higd1a (MGI:1930666) -chr3 42809444 42867285 3p21.3 3p22.1 602648 ACKR2, CCBP2, CMKBR9, D6, CCR9, CCR10 Atypical chemokine receptor 2 ACKR2 1238 ENSG00000144648 Ackr2 (MGI:1891697) -chr3 42872191 42875878 3p22-p21.3 3p22.1 602172 CYP8B1, CYP12 Cytochrome P450, subfamily VIIIB, polypeptide 1 CYP8B1 1582 ENSG00000180432 Cyp8b1 (MGI:1338044) -chr3 43079228 43106084 3p22.1 3p22.1 614828 POMGNT2, GTDC2, C3orf39, AGO61, MDDGA8, MDDGC8 Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 2 POMGNT2 84892 ENSG00000144647 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3), Autosomal recessive Pomgnt2 (MGI:2143424) -chr3 43286511 43351142 3p21 3p22.1 612760 SNRK, KIAA0096 SNF-related kinase SNRK 54861 ENSG00000163788 Snrk (MGI:108104) -chr3 43365847 43691593 3p22.1 3p-p 613726 ANO10, TMEM16K, SCAR10 Anoctamin 10 ANO10 55129 ENSG00000160746 Spinocerebellar ataxia, autosomal recessive 10, 613728 (3), Autosomal recessive Ano10 (MGI:2143103) -chr3 43690869 43734370 3p21 3p21.33 604780 ABHD5, CGI58, IECN2, NCIE2 Abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ABHD5 51099 ENSG00000011198 Chanarin-Dorfman syndrome, 275630 (3), Autosomal recessive Abhd5 (MGI:1914719) -chr3 44114211 44114309 3p21.32 3p21.32 613394 MIR138-1, MIRN138-1 Micro RNA 138-1 MIR138-1 406929 ENSG00000207954 Mir138-1 (MGI:2676823) -chr3 44200000 50600000 3p21.3 612241 IBD12 Inflammatory bowel disease 12 100188952 {Inflammatory bowel disease 12}, 612241 (2) -chr3 44200000 50600000 3p21.3 601994 TRR Transfer RNA arginine -chr3 44200000 50600000 3p21.31 609815 ZD1 Zygodactyly 1 780914 max lod at D3S2409 Zygodactyly 1, 609815 (2) -chr3 44241885 44337070 3p21.33 3p21.31 614412 TOPAZ1, C3orf77 Testis- and ovary-specific PAZ domain protein 1 TOPAZ1 375337 ENSG00000173769 Topaz1 (MGI:3779933) -chr3 44625035 44648470 3p21 3p21.31 618359 ZNF197, ZNF20, VHLAK Zinc finger protein 197 ZNF197 10168 ENSG00000186448 -chr3 44648731 44660790 3p22-p21 3p21.31 194533 ZNF35, HF10 Zinc finger protein-35 (HF.10) ZNF35 7584 ENSG00000169981 Zfp105 (MGI:1277119) -chr3 44761739 44853273 3p21.31 3p21.31 617569 KIF15, KLP2, KNSL7 Kinesin family, member 15 KIF15 56992 ENSG00000163808 Kif15 (MGI:1098258) -chr3 44874607 44914989 3p22-p21.33 3p21.31 600585 TGM4 Transglutaminase-4, prostate TGM4 7047 ENSG00000163810 Tgm4 (MGI:3027002) -chr3 44915260 44976181 3p21.31 3p21.31 617150 ZDHHC3, DHHC3, GODZ Zinc finger DHHC domain-containing protein 3 ZDHHC3 51304 ENSG00000163812 Zdhhc3 (MGI:1926134) -chr3 44975290 45012667 3p21.31 3p21.31 606488 EXOSC7, RRP42 Exosome component 7 EXOSC7 23016 ENSG00000075914 Exosc7 (MGI:1913696) -chr3 45026206 45036070 3p22-p21.3 3p21.31 187520 TNA Tetranectin (plasminogen-binding protein) CLEC3B 7123 ENSG00000163815 Clec3b (MGI:104540) -chr3 45082276 45146409 3p23-p21 3p21.31 611735 CDCP1, SIMA135 CUB domain-containing protein 1 CDCP1 64866 ENSG00000163814 Cdcp1 (MGI:2442010) -chr3 45388563 45549406 3p21.3 3p21.31 604544 LARS2, PRLTS4, HLASA Leucyl-tRNA synthetase, mitochondrial LARS2 23395 ENSG00000011376 Perrault syndrome 4, 615300 (3), Autosomal recessive; Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3), Autosomal recessive Lars2 (MGI:2142973) -chr3 45594104 45686340 3p21.3 3p21.31 604543 LIMD1 LIM domain-containing protein 1 LIMD1 8994 ENSG00000144791 Limd1 (MGI:1352502) -chr3 45689361 45745408 3p21.3 3p21.31 606569 SACM1L, SAC1, KIAA0851 SAC1 suppressor of actin mutations 1-like SACM1L 22908 ENSG00000211456 Sacm1l (MGI:1933169) -chr3 45755448 45796552 3p21.3 3p21.31 605616 SLC6A20, XT3 X transporter protein 3 SLC6A20 54716 ENSG00000163817 Iminoglycinuria, digenic, 242600 (3), Digenic recessive, Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant Slc6a20a,Slc6a20b (MGI:1336891,MGI:2143217) -chr3 45823315 45916036 3p21.3 3p21.31 606568 LZTFL1, BBS17 Leucine zipper transcription factor-like 1 LZTFL1 54585 ENSG00000163818 Bardet-Biedl syndrome 17, 615994 (3), Autosomal recessive Lztfl1 (MGI:1934860) -chr3 45886063 45903173 3p21.3 3p21.31 604738 CCR9 Chemokine, CC motif, receptor 9 CCR9 10803 ENSG00000173585 Ccr9 (MGI:1341902) -chr3 45917902 45995823 3p21.3 3p21.31 607182 FYCO1, CATC2, CTRCT18 FYVE and coiled-coil domain containing 1 FYCO1 79443 ENSG00000163820 Cataract 18, autosomal recessive, 610019 (3), Autosomal recessive Fyco1 (MGI:107277) -chr3 45940914 45948350 3p21 3p21.31 605163 CXCR6, STRL33, BONZO Chemokine, CXC motif, receptor 6 CXCR6 10663 ENSG00000172215 Cxcr6 (MGI:1934582) -chr3 46016989 46086772 3p21.3-p21.1 3p21.31 600552 XCR1, CCXCR1, GPR5 Chemokine, C motif, receptor 1 (G protein-coupled receptor-5) XCR1 2829 ENSG00000173578 Xcr1 (MGI:1346338) -chr3 46201710 46208312 3p21 3p21.31 601159 CCR1, CMKBR1, CKR1, HM145 Chemokine (C-C) receptor 1 CCR1 1230 ENSG00000163823 Ccr1,Ccr1l1 (MGI:104618,MGI:104617) -chr3 46210698 46266705 3p21.3 3p21.31 601268 CCR3, CKR3, CMKBR3 Chemokine (C-C) receptor 3 CCR3 1232 ENSG00000183625 Ccr3 (MGI:104616) -chr3 46354110 46360939 3p21 3p21.31 601267 CCR2, CMKBR2 Chemokine (C-C) receptor 2 CCR2 729230 ENSG00000121807 {HIV infection, susceptibility/resistance to} (3) Ccr2 (MGI:106185) -chr3 46370141 46376205 3p21 3p21.31 601373 CCR5, CMKBR5, CCCKR5, IDDM22 Chemokine (C-C) receptor 5 CCR5 1234 ENSG00000160791 {HIV infection, susceptibility/resistance to} (3); {Diabetes mellitus, insulin-dependent, 22}, 612522 (3); {Hepatitis C virus, resistance to}, 609532 (3); {West nile virus, susceptibility to}, 610379 (3) Ccr5 (MGI:107182) -chr3 46407165 46409522 3p21 3p21.31 608379 CCRL2 Chemokine, CC motif, receptor-like protein 2 CCRL2 9034 ENSG00000121797 Ccrl2 (MGI:1920904) -chr3 46435644 46485233 3p21.31 3p21.31 150210 LTF Lactotransferrin LTF 4057 ENSG00000012223 Ltf (MGI:96837) -chr3 46497975 46500949 3p21.3 3p21.31 607181 RTP3, TMEM7 Receptor-transporting protein 3 RTP3 83597 ENSG00000163825 Rtp3 (MGI:2446841) -chr3 46515384 46580098 3p21.3 3p21.31 607180 LRRC2 Leucine-rich repeat-containing 2 LRRC2 79442 ENSG00000163827 Lrrc2 (MGI:1921499) -chr3 46574534 46582456 3p23-p21 3p21.31 187395 TDGF1 Teratocarcinoma-derived growth factor-1 TDGF1 6997 ENSG00000241186 Forebrain defects (3) Tdgf1 (MGI:98658) -chr3 46668994 46693692 3p21.31 3p21.31 612402 ALS2CL ALS2 C-terminal-like protein ALS2CL 259173 ENSG00000178038 Als2cl (MGI:2447532) -chr3 46693777 46710885 3p21 3p21.31 607237 TMIE, DFNB6 Transmembrane inner ear-expressed gene TMIE 259236 ENSG00000181585 Deafness, autosomal recessive 6, 600971 (3), Autosomal recessive Tmie (MGI:2159400) -chr3 46712116 46717868 3p21.31 3p21.31 607950 PRSS50 Protease, serine, 50 PRSS50 29122 ENSG00000283706 Prss50 (MGI:2447303) -chr3 46857871 46863443 3p 3p21.31 160790 MYL3, CMH8 Myosin, light polypeptide-3, alkali; ventricular, skeletal, slow MYL3 4634 ENSG00000160808 Cardiomyopathy, hypertrophic, 8, 608751 (3), Autosomal dominant, Autosomal recessive Myl3 (MGI:97268) -chr3 46877688 46903798 3p22-p21.1 3p21.31 168468 PTH1R, PTHR1, PTHR, PFE, EKNS Parathyroid hormone 1 receptor PTH1R 5745 ENSG00000160801 Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3), Autosomal dominant; Eiken syndrome, 600002 (3), Autosomal recessive; Failure of tooth eruption, primary, 125350 (3), Autosomal dominant; Chondrodysplasia, Blomstrand type, 215045 (3), Autosomal recessive Pth1r (MGI:97801) -chr3 46979665 47009703 3p22.1-p21.1 3p21.31 614169 NBEAL2, KIAA0540, GPS, BDPLT4 Neurobeachin-like 2 NBEAL2 23218 ENSG00000160796 Gray platelet syndrome, 139090 (3), Autosomal recessive Nbeal2 (MGI:2448554) -chr3 47016430 47164112 3p21.3-p21.2 3p21.31 612778 SETD2, SET2, HYPB, HBP231, KIAA1732, LLS SET domain-containing protein 2 SETD2 29072 ENSG00000181555 Luscan-Lumish syndrome, 616831 (3), Autosomal dominant Setd2 (MGI:1918177) -chr3 47227997 47282846 3p21.31 3p21.31 607910 KIF9 Kinesin family member 9 KIF9 64147 ENSG00000088727 Kif9 (MGI:1098237) -chr3 47381000 47413434 3p21.3 3p21.31 606584 PTPN23, KIAA1471, HDPTP, NEDBASS Protein-tyrosine phosphatase, nonreceptor-type, 23 PTPN23 25930 ENSG00000076201 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, 618890 (3), Autosomal recessive Ptpn23 (MGI:2144837) -chr3 47413680 47477125 3p21.31 3p21.31 601510 SCAP SREBP cleavage-activating protein SCAP 22937 ENSG00000114650 Scap (MGI:2135958) -chr3 47495639 47513724 3p21.31 3p21.31 615020 ELP6, TMEM103, C3orf75 Elongator acetyltransferase complex, subunit 6 ELP6 54859 ENSG00000163832 Elp6 (MGI:1919349) -chr3 47562237 47580239 3p21.31 3p21.31 606775 CSPG5, NGC Chondroitin sulfate proteoglycan 5 CSPG5 10675 ENSG00000114646 Cspg5 (MGI:1352747) -chr3 47585268 47781892 3p23-p21 3p21.31 601732 SMARCC1, BAF155 SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily C, member 1 SMARCC1 6599 ENSG00000173473 Smarcc1 (MGI:1203524) -chr3 47802989 47850192 3p21.31 3p21.31 616423 DHX30, DDX30, RETCOR, KIAA0890, NEDMIAL DExH-box helicase 30 DHX30 22907 ENSG00000132153 Neurodevelopmental disorder with severe motor impairment and absent language, 617804 (3), Autosomal dominant Dhx30 (MGI:1920081) -chr3 47850694 48089271 3p21 3p21.31 157132 MAP4 Microtubule-associated protein 4 MAP4 4134 ENSG00000047849 Map4 (MGI:97178) -chr3 48157145 48188416 3p21 3p21.31 116947 CDC25A Cell division cycle 25A CDC25A 993 ENSG00000164045 Cdc25a (MGI:103198) -chr3 48223494 48225484 3p21.3 3p21.31 600474 CAMP, FALL39 Cathelicidin antimicrobial peptide CAMP 820 ENSG00000164047 Camp (MGI:108443) -chr3 48241103 48270989 3p21 3p21.31 616702 ZNF589, SZF1 Zinc finger protein 589 ZNF589 51385 ENSG00000164048 -chr3 48288401 48302903 3p21.3 3p21.31 608294 NME6 NME/NM23 nucleoside diphosphate kinase 6 NME6 10201 ENSG00000172113 Nme6 (MGI:1861676) -chr3 48372218 48394829 3p21 3p21.31 609075 FBXW12, FBW12, FBXO35, FBXO12 F-box and WD40 domain protein 12 FBXW12 285231 ENSG00000164049 Fbxw16,Fbxw28,Fbxw18,Fbxw19,Fbxw20,Fbxw21,Fbxw22,Fbxw13,Fbxw24,Fbxw14,Fbxw26,Fbxw15 (MGI:3505706,MGI:2443323,MGI:3779847,MGI:2443324,MGI:3505590,MGI:3505704,MGI:3646659,MGI:3643290,MGI:1354703,MGI:3584372,MGI:3646662,MGI:3505701) -chr3 48403853 48430323 3p21.31 3p21.31 601053 PLXNB1, SEP Plexin B1 PLXNB1 5364 ENSG00000164050 Plxnb1 (MGI:2154238) -chr3 48432169 48446651 3p21.31 3p21.31 618585 CCDC51, MITOK Coiled-coil domain-containing protein 51 CCDC51 79714 ENSG00000164051 Ccdc51 (MGI:1913908) -chr3 48440256 48444207 3p21.31 3p21.31 615808 TMA7, HSPC016 Translation machinery-associated 7, S. cerevisiae, homolog of TMA7 51372 ENSG00000232112 Tma7,Tma7-ps (MGI:1913417,MGI:3705453) -chr3 48446736 48467644 3p21.3-p21.2 3p21.31 606605 ATRIP ATR-interacting protein ATRIP 84126 ENSG00000164053 Atrip (MGI:1925349) -chr3 48465829 48467644 3p21.3-p21.2 3p21.31 606609 TREX1, AGS1, CRV, HERNS, RVCLS 3' repair exonuclease 1 TREX1 11277 ENSG00000213689 Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, 192315 (3), Autosomal dominant; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3), Autosomal dominant, Autosomal recessive; {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant; Chilblain lupus, 610448 (3), Autosomal dominant Trex1 (MGI:1328317) -chr3 48467875 48504809 3p21.3 3p21.31 607290 SHISA5, SCOTIN Shisa family, member 5 SHISA5 51246 ENSG00000164054 pseudogene on Xq13.1-q13.3 Shisa5 (MGI:1915044) -chr3 48517683 48562382 3p22-p21 3p21.31 605320 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 PFKFB4 5210 ENSG00000114268 Pfkfb4 (MGI:2687284) -chr3 48561717 48563780 3p21.3 3p21.31 605902 UCN2, SRP, UR Urocortin II UCN2 90226 ENSG00000145040 Ucn2 (MGI:2176375) -chr3 48564072 48595328 3p21.3 3p21.31 120120 COL7A1, NDNC8 Collagen VII, alpha-1 polypeptide COL7A1 1294 ENSG00000114270 EBD, localisata variant (3); Epidermolysis bullosa, pretibial, 131850 (3), Autosomal dominant, Autosomal recessive; Transient bullous of the newborn, 131705 (3), Autosomal dominant, Autosomal recessive; EBD, Bart type, 132000 (3), Autosomal dominant; Epidermolysis bullosa dystrophica, AD, 131750 (3), Autosomal dominant; Epidermolysis bullosa pruriginosa, 604129 (3), Autosomal dominant, Autosomal recessive; EBD inversa, 226600 (3), Autosomal recessive; Epidermolysis bullosa dystrophica, AR, 226600 (3), Autosomal recessive; Toenail dystrophy, isolated, 607523 (3), Autosomal dominant Col7a1 (MGI:88462) -chr3 48599001 48609663 3p21.3 3p21.31 191328 UQCRC1, PKNPY Ubiquinol-cytochrome c reductase core protein I UQCRC1 7384 ENSG00000010256 close upstream of COL7A1 Parkinsonism with polyneuropathy, 619279 (3), Autosomal dominant Uqcrc1 (MGI:107876) -chr3 48625722 48635460 3p21.3 3p21.31 610068 SLC26A6 Solute carrier family 26 (anion transporter), member 6 SLC26A6 65010 ENSG00000225697 Slc26a6 (MGI:2159728) -chr3 48636462 48662885 3p24.1-p21.2 3p21.31 604264 CELSR3, EGFL1, MEGF2 Cadherin EGF LAG seven-pass G-type receptor 3 (epidermal growth factor-like 1) CELSR3 1951 ENSG00000008300 Celsr3 (MGI:1858236) -chr3 48663813 48685940 3p21 3p21.31 606671 NCKIPSD, AF3P21, SPIN90 NCK-interacting protein with SH3 domain NCKIPSD 51517 ENSG00000213672 Nckipsd (MGI:1931834) -chr3 48688002 48717257 3p21 3p21.31 606992 IHPK2, IP6K2 Inositol hexaphosphate kinase 2 IP6K2 51447 ENSG00000068745 Ip6k2 (MGI:1923750) -chr3 48744600 48847873 3p21.3-p21.2 3p21.31 176910 PRKAR2A Protein kinase, cAMP-dependent, regulatory, type II, alpha PRKAR2A 5576 ENSG00000114302 Prkar2a (MGI:108025) -chr3 48856925 48898881 3p21.31 3p21.31 613698 SLC25A20, CACT, CAC Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (carnitine-acylcarnitine translocase) SLC25A20 788 ENSG00000178537 pseudogene on 6p12 Carnitine-acylcarnitine translocase deficiency, 212138 (3), Autosomal recessive Slc25a20 (MGI:1928738) -chr3 48918820 48986381 3p21 3p21.31 605615 ARIH2, ARI2, TRIAD1 Ariadne, Drosophila, homolog of, 2 ARIH2 10425 ENSG00000177479 Arih2 (MGI:1344361) -chr3 48989907 49007152 3p21.31 3p21.31 614584 P4HTM, PH4, HIDEA Prolyl 4-hydroxylase, transmembrane P4HTM 54681 ENSG00000178467 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 (3), Autosomal recessive P4htm (MGI:1921693) -chr3 49007390 49015950 3p21.31 3p21.31 606031 WDR6 WD repeat-containing protein 6 WDR6 11180 ENSG00000178252 previously assigned to 15q21 by FISH Wdr6 (MGI:1930140) -chr3 49015398 49021504 3p21.31 3p21.31 618904 DALRD3, DEE86 DALR anticodon-binding domain-containing protein 3 DALRD3 55152 ENSG00000178149 mutation identified in 1 DEE86 family ?Developmental and epileptic encephalopathy 86, 618910 (3), Autosomal recessive Dalrd3 (MGI:1915039) -chr3 49020451 49023494 3p21.31 3p21.31 612911 NDUFAF3, MC1DN18 NADH-ubiquinone oxidoreductase complex assembly factor 3 NDUFAF3 25915 ENSG00000178057 Mitochondrial complex I deficiency, nuclear type 18, 618240 (3), Autosomal recessive Ndufaf3 (MGI:1913956) -chr3 49020617 49020708 3p21.31 3p21.31 615150 MIR191 Micro RNA 191 MIR191 406966 ENSG00000207605 Mir191 (MGI:2676855) -chr3 49024324 49029749 3p21.2 3p21.31 146691 IMPDH2, IMPD2 Inosine-5'-monophosphate dehydrogenase, type II IMPDH2 3615 ENSG00000178035 [IMPDH2 enzyme activity, variation in], 617995 (3) Impdh2 (MGI:109367) -chr3 49029706 49094372 3p21.31 3p21.31 617387 QRICH1, VERBRAS Glutamine-rich protein 1 QRICH1 54870 ENSG00000198218 Ververi-Brady syndrome, 617982 (3), Autosomal dominant Qrich1 (MGI:1916482) -chr3 49095931 49104757 3p21 3p21.31 603727 QARS1, QARS, GLNRS, MSCCA Glutaminyl-tRNA synthetase 1 QARS1 5859 ENSG00000172053 Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3), Autosomal recessive Qars (MGI:1915851) -chr3 49108049 49120932 3p21.31 3p21.31 614471 USP19, KIAA0891 Ubiquitin-specific protease 19 USP19 10869 ENSG00000172046 Usp19 (MGI:1918722) -chr3 49121113 49133065 3p21 3p21.31 150325 LAMB2, LAMS, NPHS5, PIERS Laminin, beta-2 (laminin S) LAMB2 3913 ENSG00000172037 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3); Pierson syndrome, 609049 (3), Autosomal recessive Lamb2 (MGI:99916) -chr3 49171119 49176486 3p21.31 3p21.31 613169 KLHDC8B, CHL Kelch domain-containing protein 8B KLHDC8B 200942 ENSG00000185909 {Hodgkin lymphoma, susceptibility to}, 236000 (3), Autosomal recessive Klhdc8b (MGI:1925517) -chr3 49198427 49258105 3p21.31 3p21.31 619190 IHO1, CCDC36 Interactor of HORMAD1 1 IHO1 339834 ENSG00000173421 Iho1 (MGI:3612242) -chr3 49274119 49274185 3p21.31 3p21.31 617176 MIR4271 Micro RNA 4271 MIR4271 100422952 ENSG00000264633 -chr3 49277143 49340052 3p21.31 3p21.31 603486 USP4, UNP Ubiquitin-specific protease-4 USP4 7375 ENSG00000114316 Usp4 (MGI:98905) -chr3 49357175 49358352 3p21.3 3p21.31 138320 GPX1, GPXD Glutathione peroxidase-1 GPX1 2876 ENSG00000233276 ?pseudogene on 3p11-p12 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1), Autosomal recessive Gpx1 (MGI:104887) -chr3 49359144 49411975 3p21.3 3p21.31 165390 RHOA, ARHA, ARH12, RHOH12, EDFAOB Ras homolog gene family, member A (oncogene RHO H12) RHOA 387 ENSG00000067560 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, 618727 (3) Rhoa (MGI:1096342) -chr3 49412422 49416475 3p21 3p21.31 600690 TCTA T-cell leukemia translocation altered gene TCTA 6988 ENSG00000145022 Tcta (MGI:1918829) -chr3 49416777 49422472 3p21.2-p21.1 3p21.31 238310 AMT, NKH, GCE Aminomethyltransferase (glycine cleavage system protein T) AMT 275 ENSG00000145020 Glycine encephalopathy, 605899 (3), Autosomal recessive Amt (MGI:3646700) -chr3 49422332 49429323 3p21 3p21.31 611516 NICN1 Nicolin 1 NICN1 84276 ENSG00000145029 processed pseudogene on X Nicn1 (MGI:1913507) -chr3 49468702 49535617 3p21 3p21.31 128239 DAG1, DAG, MDDGC9, MDDGA9, LGMDR16 Dystrophin-associated glycoprotein-1 DAG1 1605 ENSG00000173402 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3), Autosomal recessive Dag1 (MGI:101864) -chr3 49554476 49671548 3p21.31 3p21.31 604020 BSN, ZNF231 Bassoon, mouse, homolog of BSN 8927 ENSG00000164061 Bsn (MGI:1277955) -chr3 49673101 49683970 3p21 3p21.31 102645 APEH, D3S48E N-acylaminoacyl-peptide hydrolase APEH 327 ENSG00000164062 Apeh (MGI:88041) -chr3 49683946 49689522 3p21 3p21.31 142408 MST1, HGFL Macrophage-stimulating-1 (hepatocyte growth factor-like) MST1 4485 ENSG00000173531 Mst1 (MGI:96080) -chr3 49688752 49721528 3p21.31 3p21.31 614472 RNF123, KPC1 Ring finger protein 123 RNF123 63891 ENSG00000164068 Rnf123 (MGI:2148796) -chr3 49716828 49719683 3p21.31 3p21.31 615691 AMIGO3, ALI3 Adhesion molecule with Ig-like domain 3 AMIGO3 386724 ENSG00000176020 Amigo3 (MGI:2444854) -chr3 49719915 49723950 3p21.31 3p21.31 615320 GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14, LGMDR19 GDP-mannose pyrophosphorylase B GMPPB 29925 ENSG00000173540 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3), Autosomal recessive Gmppb (MGI:2660880) -chr3 49724293 49786541 3p21.31 3p21.31 606991 IHPK1, IP6K1, KIAA0263 Inositol hexaphosphate kinase 1 IP6K1 9807 ENSG00000176095 Ip6k1 (MGI:1351633) -chr3 49805208 49813952 3p21 3p21.31 191325 UBE7, UBE1L Ubiquitin-activating enzyme-7 UBA7 7318 ENSG00000182179 Uba7 (MGI:1349462) -chr3 49828594 49856583 3p21.31 3p21.31 605958 TRAIP, TRIP, RNF206, SCKL9 TRAF-interacting protein TRAIP 10293 ENSG00000183763 Seckel syndrome 9, 616777 (3), Autosomal recessive Traip (MGI:1096377) -chr3 49857988 49869905 3p21.31 3p21.31 614993 CAMKV, 1G5 CAM kinase-like vesicle-associated CAMKV 79012 ENSG00000164076 Camkv (MGI:2384296) -chr3 49886470 49903872 3p21.3 3p21.31 600168 MST1R, RON, NPCA3 Macrophage stimulating 1 receptor (c-met-related tyrosine kinase) MST1R 4486 ENSG00000164078 {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3), Autosomal dominant Mst1r (MGI:99614) -chr3 49908868 49929810 3p21.31 3p21.31 611464 MON1A, SAND1 Mon1, S. cerevisiae, homolog of, A MON1A 84315 ENSG00000164077 Mon1a (MGI:1920075) -chr3 49940040 50077248 3p21.3 3p21.31 606886 RBM6, DEF3 RNA-binding motif protein 6 RBM6 10180 ENSG00000004534 Rbm6 (MGI:1338037) -chr3 50088918 50119020 3p21.3 3p21.31 606884 RMB5, LUCA15 RNA-binding motif protein 5 RBM5 10181 ENSG00000003756 Rbm5 (MGI:1933204) -chr3 50155057 50189074 3p21.3 3p21.31 601124 SEMA3F, SEMA4 Semaphorin III/F SEMA3F 6405 ENSG00000001617 Sema3f (MGI:1096347) -chr3 50191609 50197695 3p21 3p21.31 139330 GNAT1, CSNBAD3, CSNB1G Guanine nucleotide-binding protein (G protein), alpha-transducing (transducin) activity polypeptide-1 GNAT1 2779 ENSG00000114349 Night blindness, congenital stationary, autosomal dominant 3, 610444 (3), Autosomal dominant; Night blindness, congenital stationary, type 1G, 616389 (3), Autosomal recessive Gnat1 (MGI:95778) -chr3 50205267 50221485 3p21.3 3p21.31 604437 SLC38A3, SN1, G17 Solute carrier family 38, member 3 SLC38A3 10991 ENSG00000188338 Slc38a3 (MGI:1923507) -chr3 50227067 50259361 3p21 3p21.31 139360 GNAI2, GNAI2B, GIP Guanine nucleotide-binding protein (G protein), alpha-inhibiting activity polypeptide-2 GNAI2 2771 ENSG00000114353 on 12p13-p12, GNAI2L Ventricular tachycardia, idiopathic, 192605 (3), Autosomal dominant; Pituitary adenoma, ACTH-secreting, somatic (3) Gnai2 (MGI:95772) -chr3 50267651 50277545 3p21.3 3p21.31 601281 SEMA5 Semaphorin A(V) SEMA3B 7869 ENSG00000012171 Sema3b (MGI:107561) -chr3 50287731 50292428 3p21.3 3p21.31 602725 IFRD2 Interferon-related developmental regulator-2 IFRD2 7866 ENSG00000214706 Ifrd2 (MGI:1316708) -chr3 50292831 50299404 3p21.3 3p21.31 604038 HYAL3, LUCA3 Hyaluronoglucosaminidase 3 HYAL3 8372 ENSG00000186792 Hyal3 (MGI:1330288) -chr3 50296401 50299404 3p21.3 3p21.31 607073 NAA80, FUS2 N-alpha-acetyltransferase 80, NatH catalytic subunit NAA80 24142 ENSG00000243477 Naa80 (MGI:1888902) -chr3 50299888 50312950 3p21.3-p21.2 3p21.31 607071 HYAL1, MPS9 Hyaluronoglucosaminidase 1 HYAL1 3373 ENSG00000114378 mutation identified in 1 MPS9 patient ?Mucopolysaccharidosis type IX, 601492 (3), Autosomal recessive Hyal1 (MGI:96298) -chr3 50317801 50322767 3p21.3 3p21.31 603551 HYAL2, LUCA2 Hyaluronoglucosaminidase 2 HYAL2 8692 ENSG00000068001 Hyal2 (MGI:1196334) -chr3 50324908 50328222 3p21.3 3p21.31 607052 FUS1 FUS1 gene TUSC2 11334 ENSG00000114383 Tusc2 (MGI:1931086) -chr3 50329785 50340835 3p21.3 3p21.31 605082 RASSF1 Ras association domain family protein 1 RASSF1 11186 ENSG00000068028 epigenetically inactivated Rassf1 (MGI:1928386) -chr3 50341109 50345731 3p21.3 3p21.31 607070 ZMYND10, BLU Zinc finger MYND domain-containing protein 10 ZMYND10 51364 ENSG00000004838 Ciliary dyskinesia, primary, 22, 615444 (3), Autosomal recessive Zmynd10 (MGI:2387863) -chr3 50347329 50350820 3p21.3 3p21.31 607072 NPRL2, FFEVF2 NPR2-like protein, GATOR1 complex subunit NPRL2 10641 ENSG00000114388 Epilepsy, familial focal, with variable foci 2, 617116 (3), Autosomal dominant Nprl2 (MGI:1914482) -chr3 50350861 50368196 3p21.3 3p21.31 607068 CYB561D2, 101F6 Cytochrome b-561 domain containing 2 CYB561D2 11068 ENSG00000114395 Cyb561d2 (MGI:1929280) -chr3 50354749 50359520 3p21.3 3p21.31 607069 TMEM115, PL6 Transmembrane protein 115 TMEM115 11070 ENSG00000126062 Tmem115 (MGI:1930765) -chr3 50362612 50504243 3p21.3 3p21.31 607082 CACNA2D2, KIAA0558, CASVDD Calcium channel, voltage-dependent, alpha-2/delta subunit 2 CACNA2D2 9254 ENSG00000007402 Cerebellar atrophy with seizures and variable developmental delay, 618501 (3), Autosomal recessive Cacna2d2 (MGI:1929813) -chr3 50569151 50596165 3p21.2 3p21.31 618609 HEMK1, MTQ1, MPRMC HemK methyltransferase family, member 1 HEMK1 51409 ENSG00000114735 Hemk1 (MGI:1916786) -chr3 50606453 50611773 3p21.3 3p21.2 602441 CISH, BACTS2 Cytokine inducible SH2-containing protein CISH 1154 ENSG00000114737 {Malaria, susceptibility to}, 611162 (3); {Bacteremia, susceptibility to}, 614383 (3); {Tuberculosis, susceptibility to}, 607948 (3) Cish (MGI:103159) -chr3 50611876 50649290 3p21.3 3p21.2 602130 MAPKAP3, 3PK, MDPT3 Mitogen-activated protein kinase-activated protein kinase-3 MAPKAPK3 7867 ENSG00000114738 mutation identified in 1 MDPT3 family ?Macular dystrophy, patterned, 3, 617111 (3), Autosomal dominant Mapkapk3 (MGI:2143163) -chr3 50674926 51384197 3p14 3p21.2 603123 DOCK3, NEDIDHA Dedicator of cytokinesis 3 DOCK3 1795 ENSG00000088538 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 (3), Autosomal recessive Dock3 (MGI:2429763) -chr3 51385290 51389396 3p21.1 3p21.2 601916 ARMET, ARP Arginine-rich protein, mutated in early stage tumors MANF 7873 ENSG00000145050 Manf (MGI:1922090) -chr3 51391284 51397907 3p21.1 3p21.2 612602 RBM15B, OTT3, HUMAGCGB RNA-binding motif protein 15B RBM15B 29890 ENSG00000259956 Rbm15b (MGI:1923598) -chr3 51394260 51505619 3p21.2 3p21.2 617259 DCAF1, RIP, VPRBP, KIAA0800 DDB1- and CUL4-associated factor 1 DCAF1 9730 ENSG00000145041 Dcaf1 (MGI:2445220) -chr3 51707067 51718615 3p21.2-p21.1 3p21.2 604099 GRM2, MGLUR2 Glutamate receptor, metabotropic, 2 GRM2 2912 ENSG00000164082 Grm2 (MGI:1351339) -chr3 51942289 51948866 3p21.3-p21.1 3p21.2 607726 PARP3, ADPRTL3 Poly(ADP-ribose) polymerase 3 PARP3 10039 ENSG00000041880 Parp3 (MGI:1891258) -chr3 51955380 51957498 3p21.1 3p21.2 606917 GPR62 G protein-coupled receptor 62 GPR62 118442 ENSG00000180929 Gpr62 (MGI:3525078) -chr3 51957453 51967465 3p21.2 3p21.2 608503 PCBP4, MGC10 Poly(rC)-binding protein 4 PCBP4 57060 ENSG00000090097 Pcbp4 (MGI:1890471) -chr3 51975063 51981195 3p21.2 3p21.2 618771 ABHD14A, DORZ1 Abhydrolase domain-containing protein 14A ABHD14A 25864 ENSG00000248487 Abhd14a (MGI:1915894) -chr3 51983534 51989196 3p21.1 3p21.2 104620 ACY1, ACY1D Aminoacylase-1 ACY1 95 ENSG00000243989 Aminoacylase 1 deficiency, 609924 (3), Autosomal recessive Acy1 (MGI:87913) -chr3 51993521 51995894 3q29-qter 3p21.2 601832 RPL29, HIP Ribosomal protein L29 RPL29 6159 ENSG00000162244 Gm13841,Rpl29 (MGI:3650890,MGI:99687) -chr3 52048918 52056570 3p21 3p21.2 602749 DUSP7, MKPX, PYST2 Dual-specificity phosphatase-7 DUSP7 1849 ENSG00000164086 Dusp7 (MGI:2387100) -chr3 52075225 52154422 3p21.2 3p21.2 614783 POC1A, PIX2, SOFT POC1 centriolar protein A POC1A 25886 ENSG00000164087 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3), Autosomal recessive Poc1a (MGI:1917485) -chr3 52198082 52214326 3p21.1 3p21.2 125290 ALAS1 Aminolevulinate, delta-, synthase-1 ALAS1 211 ENSG00000023330 Alas1 (MGI:87989) -chr3 52221079 52225644 3p21.3 3p21.2 605474 TLR9 Toll-like receptor 9 TLR9 54106 ENSG00000239732 Tlr9 (MGI:1932389) -chr3 52228611 52239157 3p21.1 3p21.2 607433 TWF2, PTK9L, A6RP Twinfilin actin-binding protein 2 TWF2 11344 ENSG00000247596 Twf2 (MGI:1346078) -chr3 52245724 52250598 3p21.2 3p21.2 608979 PPM1M, PP2CE Protein phosphatase 1M (protein phosphatase 2C, eta isoform) PPM1M 132160 ENSG00000164088 Ppm1m (MGI:1915155) -chr3 52254423 52278648 3p21.1 3p21.2 611059 WDR82, TMEM113 WD repeat-containing protein 82 WDR82 80335 ENSG00000164091 Wdr82 (MGI:1924555) -chr3 52268277 52268360 3p21.1 3p21.2 612102 MIRLET7G, LET7G, MIRNLET7G Micro RNA Let7G MIRLET7G 406890 ENSG00000199150 Mirlet7g (MGI:2676800) -chr3 52287557 52295256 3p21 3p21.2 610516 GLYCTK, GLYCTK1 Glycerate kinase GLYCTK 132158 ENSG00000168237 D-glyceric aciduria, 220120 (3), Autosomal recessive Glyctk (MGI:2444085) -chr3 52300000 54400000 3p21 612007 CELIAC9 Celiac disease, susceptibility to, 9 100188871 associated with rs6441961 {Celiac disease, susceptibility to, 9}, 612007 (2) -chr3 52300000 54400000 3p21 606874 HSCR6 Hirschsprung disease, susceptibility to, 6 246321 {Hirschsprung disease, susceptibility to, 6}, 606874 (2) -chr3 52300000 74100000 3p21-p13 612574 MPVQTL2 Mean platelet volume quantitative trait locus 2 100271868 associated with rs12485738 [Mean platelet volume QTL2], 612574 (2) -chr3 52300000 54400000 3p21 613806 PSC Cholangitis, primary sclerosing 100653366 Cholangitis, primary sclerosing, 613806 (2) -chr3 52313009 52400496 3p21.3 3p21.1 603332 DNAH1, HL11, DNAHC1, HDHC7, SPGF18, CILD37 Dynein, axonemal, heavy chain-1 DNAH1 25981 ENSG00000114841 mutation identified in 1 CILD37 family Spermatogenic failure 18, 617576 (3), Autosomal recessive; ?Ciliary dyskinesia, primary, 37, 617577 (3), Autosomal recessive Dnah1 (MGI:107721) -chr3 52401003 52410029 3p21.3 3p21.1 603089 BAP1, TPDS BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) BAP1 8314 ENSG00000163930 Tumor predisposition syndrome, 614327 (3), Autosomal dominant Bap1 (MGI:1206586) -chr3 52451099 52454040 3p21.3-p14.3 3p21.1 191040 TNNC1, CMD1Z, CMH13 Troponin-C1, slow TNNC1 7134 ENSG00000114854 Cardiomyopathy, dilated, 1Z, 611879 (3); Cardiomyopathy, hypertrophic, 13, 613243 (3), Autosomal dominant Tnnc1 (MGI:98779) -chr3 52455602 52493067 3p21.1 3p21.1 615507 NISCH, IRAS, KIAA0975 Nischarin NISCH 11188 ENSG00000010322 Nisch (MGI:1928323) -chr3 52545366 52685912 3p21 3p21.1 606083 PBRM1, PB1, BAF180, RCC Polybromo 1 PBRM1 55193 ENSG00000163939 mutation identified in 1 ccRCC family ?Renal cell carcinoma, clear cell, 144700 (3) Pbrm1 (MGI:1923998) -chr3 52685919 52694496 3p21.1 3p21.1 608011 GNL3, NS, E2IG3 Guanine nucleotide-binding protein-like 3 GNL3 26354 ENSG00000163938 Gnl3 (MGI:1353651) -chr3 52694485 52705795 3p21.1 3p21.1 618399 GLT8D1 Glycosyltransferase 8 domain-containing protein 1 GLT8D1 55830 ENSG00000016864 Glt8d1 (MGI:1923735) -chr3 52706105 52711147 3p21.1 3p21.1 610358 SPCS1, SPC12 Signal peptidase complex, subunit 1 SPCS1 28972 ENSG00000114902 Spcs1 (MGI:1916269) -chr3 52708443 52770945 3p21.1 3p21.1 601959 NEK4, STK2, NRK2 NIMA (never in mitosis gene a)-related kinase 4 (serine/threonine protein kinase-2) NEK4 6787 ENSG00000114904 Nek4 (MGI:1344404) -chr3 52777598 52792067 3p21.2-p21.1 3p21.1 147270 ITIH1 Inter-alpha (globulin) inhibitor, H1 polypeptide ITIH1 3697 ENSG00000055957 Itih1 (MGI:96618) -chr3 52794795 52808798 3p21.2-p21.1 3p21.1 146650 ITIH3 Inter-alpha (globulin) inhibitor, H3 polypeptide ITIH3 3699 ENSG00000162267 Itih3 (MGI:96620) -chr3 52812961 52830671 3p21.2-p14.1 3p21.1 600564 ITIH4, PK120, ITIHL1 Inter-alpha (globulin) inhibitor, H4 polypeptide ITIH4 3700 ENSG00000055955 Itih4 (MGI:109536) -chr3 52833120 52835018 3p21.1 3p21.1 617195 MUSTN1, MUSTANG Musculoskeletal embryonic nuclear protein 1 MUSTN1 389125 ENSG00000272573 Mustn1 (MGI:1913425) -chr3 52836732 52897547 3p21.1 3p21.1 617189 TMEM110, STIMATE Transmembrane protein 110 STIMATE 375346 ENSG00000213533 Stimate (MGI:1921500) -chr3 52899208 53046654 3p21.1 3p21.1 607319 SFMBT1, RU1 SCM-like protein with 4 MBT domains 1 SFMBT1 51460 ENSG00000163935 Sfmbt1 (MGI:1859609) -chr3 53071150 53130468 3p21.1 3p21.1 611908 RFT1, CDG1N RFT1 homolog RFT1 91869 ENSG00000163933 Congenital disorder of glycosylation, type In, 612015 (3), Autosomal recessive Rft1 (MGI:3607791) -chr3 53161208 53192716 3p 3p21.1 176977 PRKCD, CVID9, ALPS3 Protein kinase C, delta PRKCD 5580 ENSG00000163932 mutation identified in 1 family Autoimmune lymphoproliferative syndrome, type III, 615559 (3), Autosomal recessive Prkcd (MGI:97598) -chr3 53224711 53256051 3p14.3 3p21.1 606781 TKT, SDDHD Transketolase TKT 7086 ENSG00000163931 Short stature, developmental delay, and congenital heart defects, 617044 (3), Autosomal recessive Tkt (MGI:105992) -chr3 53283428 53347542 3p21.1 3p21.1 607010 DCP1A, SMIF Decapping mRNA 1A DCP1A 55802 ENSG00000272886 Dcp1a (MGI:1923151) -chr3 53494610 53813732 3p21.1 3p21.1 114206 CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA Calcium channel, voltage-dependent, L type, alpha 1D subunit CACNA1D 776 ENSG00000157388 Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3), Autosomal dominant; Sinoatrial node dysfunction and deafness, 614896 (3), Autosomal recessive Cacna1d (MGI:88293) -chr3 53846567 53865793 3p21.1 3p21.1 605458 IL17RB, IL17BR, IL17RH1 Interleukin 17, receptor B IL17RB 55540 ENSG00000056736 Il17rb (MGI:1355292) -chr3 53884416 53891858 3p21.31 3p21.1 607916 SELENOK, SELK, HSPC030 Selenoprotein K SELENOK 58515 ENSG00000113811 Selenok (MGI:1931466) -chr3 54122551 55074556 3p21.1 3p21.1-p14.3 606399 CACNA2D3 Calcium channel, voltage-dependent, alpha-2/delta subunit 3 CACNA2D3 55799 ENSG00000157445 Cacna2d3 (MGI:1338890) -chr3 54632123 54639856 3p14.3 3p14.3 611473 ESRG, HESRG Embryonic stem cell-related protein ESRG 790952 ENSG00000265992 -chr3 55465714 55505260 3p21-p14 3p14.3 164975 WNT5A Wingless-type MMTV integration site family, member 5A WNT5A 7474 ENSG00000114251 Robinow syndrome, autosomal dominant 1, 180700 (3), Autosomal dominant Wnt5a (MGI:98958) -chr3 55508310 56468472 3p14.3 3p14.3 617250 ERC2, CAST, KIAA0378 ELKS/RAB6-interacting/CAST family, member 2 ERC2 26059 ENSG00000187672 Erc2 (MGI:1098749) -chr3 56557124 56621836 3p14.3 3p14.3 619287 CCDC66 Coiled-coil domain-containing protein 66 CCDC66 285331 ENSG00000180376 Ccdc66 (MGI:2443639) -chr3 56620131 56683264 3p14.3 3p14.3 616493 FAM208A, RAP140, C3orf63, KIAA1105 Family with sequence similarity 208, member A TASOR 23272 ENSG00000163946 Tasor (MGI:1921694) -chr3 56727418 57079307 3p21-p13 3p14.3 612115 ARHGEF3, XPLN RHO guanine nucleotide exchange factor 3 ARHGEF3 50650 ENSG00000163947 Arhgef3 (MGI:1918954) -chr3 57060663 57075431 3p21.2-p21.1 3p14.3 609869 SPATA12, SRG5 Spermatogenesis-associated protein 12 SPATA12 353324 ENSG00000186451 -chr3 57089981 57170316 3p14.3-p14.2 3p14.3 606807 IL17RD, SEF, HH18 Interleukin 17, receptor D (Sef, zebrafish, homolog of) IL17RD 54756 ENSG00000144730 Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3), Digenic dominant, Autosomal dominant, Autosomal recessive Il17rd (MGI:2159727) -chr3 57197837 57227642 3p21.2-p21.1 3p14.3 601802 HESX1, RPX, CPHD5 Homeo box gene expressed in ES cells HESX1 8820 ENSG00000163666 Pituitary hormone deficiency, combined, 5, 182230 (3), Autosomal dominant, Autosomal recessive; Septooptic dysplasia, 182230 (3), Autosomal dominant, Autosomal recessive; Growth hormone deficiency with pituitary anomalies, 182230 (3), Autosomal dominant, Autosomal recessive Hesx1 (MGI:96071) -chr3 57227728 57273470 3p21.1-p14.3 3p14.3 604299 APPL1, APPL, MODY14 Adaptor protein containing PH domain, PTB domain, and leucine zipper motif 1 APPL1 26060 ENSG00000157500 {Maturity-onset diabetes of the young, type 14}, 616511 (3), Autosomal dominant Appl1 (MGI:1920243) -chr3 57293698 57545202 3p21.1 3p14.3 603340 DNAH12, DNAHC3, HL19 Dynein, heavy chain-5 DNAH12 201625 ENSG00000174844 Dnah12 (MGI:107720) -chr3 57556273 57656494 3q21.2 3p14.3 616519 PDE12 Phosphodiesterase 12 PDE12 201626 ENSG00000174840 Pde12 (MGI:2443226) -chr3 57571362 57597343 3p14.1 3p14.3 601177 ARF4, ARF2 ADP-ribosylation factor 4 ARF4 378 ENSG00000168374 Arf4 (MGI:99433) -chr3 57756228 57930012 3p21.2-p14.3 3p14.3 602701 SLAP Sarcolemmal-associated protein SLMAP 7871 ENSG00000163681 Slmap (MGI:1933549) -chr3 58008421 58172250 3p14.3 3p14.3 603381 FLNB, SCT, AOI, LRS1 Filamin B FLNB 2317 ENSG00000136068 Larsen syndrome, 150250 (3), Autosomal dominant; Atelosteogenesis, type I, 108720 (3), Autosomal dominant; Atelosteogenesis, type III, 108721 (3), Autosomal dominant; Spondylocarpotarsal synostosis syndrome, 272460 (3), Autosomal recessive; Boomerang dysplasia, 112310 (3), Autosomal dominant Flnb (MGI:2446089) -chr3 58192256 58210971 3p21.1-p14.3 3p14.3 602244 DNASE1L3, SLEB16 Deoxyribonuclease I-like 3 DNASE1L3 1776 ENSG00000163687 Systemic lupus erythematosus 16, 614420 (3), Autosomal recessive Dnase1l3 (MGI:1314633) -chr3 58237531 58294735 3p14.3 3p14.3 616966 ADHB6 Abhydrolase domain-containing protein 6, acylglycerol lipase ABHD6 57406 ENSG00000163686 Abhd6 (MGI:1913332) -chr3 58306244 58320192 3p14.3 3p14.3 606112 RPP14 Ribonuclease P/MRP subunit p14 RPP14 11102 ENSG00000163684 Rpp14 (MGI:1914303) -chr3 58332889 58426126 3p14.3 3p14.3 611450 PXK, MONAKA PXK domain-containing serine/threonine kinase PXK 54899 ENSG00000168297 Pxk (MGI:1289230) -chr3 58427629 58433831 3p13-q23 3p14.3 179060 PDHB, PDHBD Pyruvate dehydrogenase, E1 beta polypeptide PDHB 5162 ENSG00000168291 Pyruvate dehydrogenase E1-beta deficiency, 614111 (3), Autosomal recessive Pdhb (MGI:1915513) -chr3 58492095 58502359 3p14.3 3p14.3 618791 KCTD6, KCASH3 Potassium channel tetramerization domain-containing protein 6 KCTD6 200845 ENSG00000168301 Kctd6 (MGI:1918643) -chr3 58505135 58537195 3p14.3 3p14.3 601641 ACOX2, BRCACOX, CBAS6 Acyl-Coenzyme A oxidase 2, branched chain ACOX2 8309 ENSG00000168306 Bile acid synthesis defect, congenital, 6, 617308 (3), Autosomal recessive Acox2 (MGI:1934852) -chr3 58564116 58627609 3p21.1 3p14.3-p14.2 608295 FAM107A, DRR1, TU3A Family with sequence similarity 107, member A (downregulated in renal cell carcinoma 1) FAM107A 11170 ENSG00000168309 Fam107a (MGI:3041256) -chr3 58633942 58666842 3p14.2 3p14.2 608619 FAM3D Family with sequence similarity 3, member D FAM3D 131177 ENSG00000198643 Fam3d (MGI:1201784) -chr3 59747276 61251451 3p14.2 3p14.2 601153 FRA3B, FHIT Fragile histidine triad gene FHIT 2272 ENSG00000189283 deleted in RCC Fhit (MGI:1277947) -chr3 61561570 62297608 3p14.2 3p14.2 176886 PTPRG, PTPG Protein tyrosine phosphatase, receptor type, gamma polypeptide PTPRG 5793 ENSG00000144724 Ptprg (MGI:97814) -chr3 62369680 62373549 3p14.2 3p14.2 607414 FEZF2, ZNF312, FEZL, TOF FEZ family zinc finger 2 FEZF2 55079 ENSG00000153266 Fezf2 (MGI:1859823) -chr3 62398347 62875864 3p21.1 3p14.2 604667 CADPS, CAPS Ca(2+)-dependent activator protein for secretion CADPS 8618 ENSG00000163618 Cadps (MGI:1350922) -chr3 63652674 63665211 3p14.2 3p14.2 617832 SNTN, S100AL, S100A1L Sentan, cilia apical structural protein SNTN 132203 ENSG00000188817 Sntn (MGI:3045373) -chr3 63800000 103100000 3p14.1-q12.3 610948 HYT7 Hypertension, essential, susceptibility to, 7 100188825 {Hypertension, essential, susceptibility to, 7}, 610948 (2) -chr3 63800000 122200000 3p14-q13 608586 KTCN3 Keratoconus 3 406215 Keratoconus 3, 608586 (2) -chr3 63833869 63864477 3p14.1 3p14.1 611965 THOC7, NIF3L1BP1 THO complex, subunit 7 THOC7 80145 ENSG00000163634 Thoc7 (MGI:1913481) -chr3 63863143 64003461 3p14.1 3p14.1 607640 ATXN7, SCA7, OPCA3 Ataxin 7 ATXN7 6314 ENSG00000163635 Spinocerebellar ataxia 7, 164500 (3), Autosomal dominant Atxn7 (MGI:2179277) -chr3 63911517 63911771 3p14.1 3p14.1 614481 ATXN7AS1, SCAANT1 ATXN7 antisense noncoding transcript 1 SCAANT1 100861563 ENSG00000280620 -chr3 64010550 64024006 3p14.1 3p14.1 617857 PSMD6, KIAA0107 Proteasome 26S subunit, non-ATPase, 6 PSMD6 9861 ENSG00000163636 Psmd6 (MGI:1913663) -chr3 64092235 64445475 3p14 3p14.1 608501 PRICKLE2 Prickle-like 2 PRICKLE2 166336 ENSG00000163637 Prickle2 (MGI:1925144) -chr3 64515653 64687999 3p14.3-p14.2 3p14.1 605421 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 ADAMTS9 56999 ENSG00000163638 Adamts9 (MGI:1916320) -chr3 65353525 66038917 3p14.1 3p14.1 602625 MAGI1, BAIAP1, WWP3, TNRC19 Membrane-associated guanylate kinase, WW and PDZ domains-containing, 1 MAGI1 9223 ENSG00000151276 Magi1 (MGI:1203522) -chr3 66133609 66380020 3p14.3 3p14.1 611037 SLC25A26, SAMC, COXPD28 Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26 SLC25A26 115286 ENSG00000144741 Combined oxidative phosphorylation deficiency 28, 616794 (3), Autosomal recessive Slc25a26 (MGI:1914832) -chr3 66378796 66501120 3p14 3p14.1 608868 LRIG1, LIG1 Leucine-rich repeats- and immunoglobulin-like domains-containing protein 1 LRIG1 26018 ENSG00000144749 Lrig1 (MGI:107935) -chr3 66998306 67011209 3p14.1 3p14.1 616607 KBTBD8, TAKRP, KIAA1842 Kelch repeat- and BTB/POZ domain-containing protein 8 KBTBD8 84541 ENSG00000163376 Kbtbd8 (MGI:2661430) -chr3 67360459 67654611 3p14.1 3p14.1 603922 SUCLG2 Succinate-CoA ligase, GDP-forming, beta subunit SUCLG2 8801 ENSG00000172340 Suclg2 (MGI:1306824) -chr3 67991543 68546055 3p14.1 3p14.1 617495 FAM19A1, TAFA1 Family with sequence similarity 19, member A1, CC motif chemokine-like TAFA1 407738 ENSG00000183662 Tafa1 (MGI:2443695) -chr3 68731765 68932609 3p14.1 3p14.1 617498 FAM19A4, TAFA4 Family with sequence similarity 19, member A4, CC motif chemokine-like TAFA4 151647 ENSG00000163377 Tafa4 (MGI:2444563) -chr3 68975219 69013960 3p14.1 3p14.1 614789 EOGT, EOGT1, C3orf64, AOS4 EGF domain-specific O-linked N-acetylglucosamine transferase EOGT 285203 ENSG00000163378 Adams-Oliver syndrome 4, 615297 (3), Autosomal recessive Eogt (MGI:2141669) -chr3 69019826 69052332 3p21-p12 3p14.1 601126 TMF1 TATA element modulatory factor 1 TMF1 7110 ENSG00000144747 Tmf1 (MGI:2684999) -chr3 69054729 69080372 3p14.1 3p14.1 603172 UBE1C, UBA3 Ubiquitin-activating enzyme E1C UBA3 9039 ENSG00000144744 Uba3 (MGI:1341217) -chr3 69084936 69106091 3p14 3p14.1 605709 ARL6IP5 ADP ribosylation factor-like GTPase 6 interacting protein 5 ARL6IP5 10550 ENSG00000144746 Arl6ip5 (MGI:1929501) -chr3 69106064 69122594 3p14.1 3p14.1 616112 LMOD3, NEM10 Leiomodin 3 LMOD3 56203 ENSG00000163380 Nemaline myopathy 10, 616165 (3), Autosomal recessive Lmod3 (MGI:2444169) -chr3 69168781 69541339 3p14.1 3p14.1 617467 FRMD4B, GRSP1, KIAA1013 FERM domain-containing protein 4B FRMD4B 23150 ENSG00000114541 Frmd4b (MGI:2141794) -chr3 69739463 69968331 3p14.1-p12.3 3p13 156845 MITF, WS2A, CMM8, COMMAD Microphthalmia-associated transcription factor MITF 4286 ENSG00000187098 Waardenburg syndrome, type 2A, 193510 (3), Autosomal dominant; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3); Tietz albinism-deafness syndrome, 103500 (3), Autosomal dominant; Waardenburg syndrome/ocular albinism, digenic, 103470 (3); COMMAD syndrome, 617306 (3), Autosomal recessive Mitf (MGI:104554) -chr3 69999743 70015300 3p13 3p13 616895 SAMMSON, LINC01212 Survival-associated mitochondrial melanoma-specific oncogenic noncoding RNA SAMMSON 101927152 ENSG00000240405 -chr3 70954707 71583977 3p14.1 3p13 605515 FOXP1, QRF1 Forkhead box P1 FOXP1 27086 ENSG00000114861 Mental retardation with language impairment and with or without autistic features, 613670 (3), Autosomal dominant Foxp1 (MGI:1914004) -chr3 71675413 71754772 3p14 3p13 609896 EIF4E3 Eukaryotic translation initiation factor 4E family, member 3 EIF4E3 317649 ENSG00000163412 Eif4e3 (MGI:1914142) -chr3 71753854 71756495 3p21-p14 3p13 605187 GPR27, SREB1 G protein-coupled receptor 27 GPR27 2850 ENSG00000170837 Gpr27 (MGI:1202299) -chr3 71771654 71785147 3p21.1 3p13 607002 PROK2, PK2, BV8, HH4 Prokineticin 2 PROK2 60675 ENSG00000163421 Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3), Autosomal dominant Prok2 (MGI:1354178) -chr3 72374592 72446622 3p13 3p13 607535 RYBP, YEAF1 Ring1- and YY1-binding protein RYBP 23429 ENSG00000163602 Rybp (MGI:1929059) -chr3 72725701 72848474 3p13 3p13 613663 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor SHQ1 55164 ENSG00000144736 Shq1 (MGI:1919421) -chr3 72888045 72976914 3p13 3p13 613322 GXYLT2, GLT8D4 Glucoside xylosyltransferase 2 GXYLT2 727936 ENSG00000172986 Gxylt2 (MGI:2682940) -chr3 72996742 73069197 3p13 3p13 613822 PPP4R2, PP4R2 Protein phosphatase 4, regulatory subunit 2 PPP4R2 151987 ENSG00000163605 Ppp4r2 (MGI:3027896) -chr3 73061658 73063336 3p14-p13 3p13 613250 EBLN2 Endogenous Borna-like N element-containing protein 2 EBLN2 55096 ENSG00000255423 -chr3 73382429 73624996 3p13 3p13 609729 PDZRN3, KIAA1095 PDZ domain-containing ring finger protein 3 PDZRN3 23024 ENSG00000121440 Pdzrn3 (MGI:1933157) -chr3 74262567 74614658 3p26 3p12.3 601325 CNTN3, PANG Contactin 3 (plasmocytoma-associated neuronal glycoprotein) CNTN3 5067 ENSG00000113805 Cntn3 (MGI:99534) -chr3 75729960 75785577 3p12.3 3p12.3 618405 ZNF717, OB1 Zinc finger protein 717 ZNF717 100131827 ENSG00000227124 -chr3 75906674 77649963 3p12.3 3p12.3 602431 ROBO2, SAX3, KIAA1568 Roundabout guidance receptor 2 ROBO2 6092 ENSG00000185008 Vesicoureteral reflux 2, 610878 (3), Autosomal dominant Robo2 (MGI:1890110) -chr3 78597238 79767997 3p12 3p12.3 602430 ROBO1, DUTT1, SAX3 Roundabout guidance receptor 1 ROBO1 6091 ENSG00000169855 Robo1 (MGI:1274781) -chr3 81489702 81761644 3p12 3p12.2 607839 GBE1, GSD4, APBD Glycogen branching enzyme GBE1 2632 ENSG00000114480 Glycogen storage disease IV, 232500 (3), Autosomal recessive; Polyglucosan body disease, adult form, 263570 (3), Autosomal recessive Gbe1 (MGI:1921435) -chr3 83500000 122200000 3p12-q13 606896 DYX5 Dyslexia, susceptibility to, 5 171089 ?same locus as SSD {Dyslexia, susceptibility to, 5}, 606896 (2) -chr3 83500000 113700000 3p12-q13.2 109720 PBC1 Biliary cirrhosis, primary, 1 associated with rs6441286 Biliary cirrhosis, primary, 1, 109720 (2), Autosomal dominant -chr3 83500000 122200000 3p12-q13 608445 SSD Speech-sound disorder 404713 ?same locus as DYX5 {Speech-sound disorder}, 608445 (2) -chr3 84958988 86074428 3p12 3p12.1 609938 CADM2, IGSF4D, SYNCAM2, NECL3 Cell adhesion molecule 2 CADM2 253559 ENSG00000175161 Cadm2 (MGI:2442722) -chr3 86937972 86991148 3p12.1 3p12.1 609980 VGLL3, VGL3 Vestigial-like 3 VGLL3 389136 ENSG00000206538 Vgll3 (MGI:1920819) -chr3 87227308 87255555 3p11.2 3p11.2 609512 CHMP2B, DMT1, VPS2B, FTDALS7 Charged multivesicular body protein 2B CHMP2B 25978 ENSG00000083937 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, 600795 (3), Autosomal dominant Chmp2b (MGI:1916192) -chr3 87259403 87276583 3p11 3p11.2 173110 POU1F1, PIT1, CPHD1 POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1) POU1F1 5449 ENSG00000064835 Pituitary hormone deficiency, combined, 1, 613038 (3), Autosomal dominant, Autosomal recessive Pou1f1 (MGI:97588) -chr3 87792705 87994855 3p12 3p11.2-p11.1 182134 HTR1F, HTR1EL, MR77 5-hydroxytryptamine receptor 1F HTR1F 3355 ENSG00000179097 Htr1f (MGI:99842) -chr3 88051949 88149869 3p12-p11.1 3p11.1 603363 CGGBP1 CGG triplet repeat binding protein 1 CGGBP1 8545 ENSG00000163320 Cggbp1 (MGI:2146370) -chr3 89107620 89482133 3p11.2 3p11.1 179611 EPHA3, ETK1, HEK Ephrin receptor EphA3 (human embryo kinase 1) EPHA3 2042 ENSG00000044524 Epha3 (MGI:99612) -chr3 90900000 122200000 3cen-q13 614012 ERVK-5, HERV-KII Endogenous retrovirus group K, member 5 ERVK-5 60358 -chr3 93873050 93973895 3q11.2 3q11.1 176880 PROS1, THPH5, THPH6 Protein S, alpha PROS1 5627 ENSG00000184500 pseudogene PROSP contiguous on chr.3 Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3), Autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3), Autosomal recessive Pros1 (MGI:1095733) -chr3 93980146 94055677 3q11.2 3q11.1-q11.2 608922 ARL13B, ARL2L1, JBTS8 ADP ribosylation factor-like GTPase 13B ARL13B 200894 ENSG00000169379 Joubert syndrome 8, 612291 (3), Autosomal recessive Arl13b (MGI:1915396) -chr3 94000000 108200000 3q11.2-q13.12 114200 CAMPD1 Camptodactyly 1 100381210 between D3S2465 and D3S3044 Camptodactyly 1, 114200 (2), Autosomal dominant -chr3 94057921 94063388 3q11.2 3q11.2 616588 DHFRL1 Dihydrofolate reductase-like 1 DHFR2 200895 ENSG00000178700 Dhfr (MGI:94890) -chr3 94063060 94131831 3q11.2 3q11.2 617491 NSUN3, COXPD48 NOP2/SUN RNA methyltransferase family, member 3 NSUN3 63899 ENSG00000178694 Combined oxidative phosphorylation deficiency 48, 619012 (3) Nsun3 (MGI:2146565) -chr3 96814580 97761531 3q11.2 3q11.2 600066 EPHA6, HEK12, EHK2 Ephrin receptor EphA6 EPHA6 285220 ENSG00000080224 Epha6 (MGI:108034) -chr3 97762580 97812584 3p12-q13 3q11.2 608845 ARL6, BBS3, RP55 ADP ribosylation factor-like GTPase 6 ARL6 84100 ENSG00000113966 Retinitis pigmentosa 55, 613575 (3), Autosomal recessive; {Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Digenic recessive, Autosomal recessive; Bardet-Biedl syndrome 3, 600151 (3), Autosomal recessive Arl6 (MGI:1927136) -chr3 97941817 97972430 3q12.1 3q11.2 612049 RIOX2, MINA, MINA53, MDIG Ribosomal oxygenase 2 RIOX2 84864 ENSG00000170854 Riox2 (MGI:1914264) -chr3 97985101 98035314 3q11.2 3q11.2 618668 GABRR3 Gamma-aminobutyric acid receptor, RHO-3 GABRR3 200959 ENSG00000183185 Gabrr3 (MGI:3588203) -chr3 98531977 98534680 3q11.2-q13.1 3q11.2 601166 GPR15 G protein-coupled receptor-15 GPR15 2838 ENSG00000154165 Gpr15 (MGI:1918473) -chr3 98569836 98593683 3q12 3q11.2 612732 CPOX, HARPO Coproporphyrinogen oxidase CPOX 1371 ENSG00000080819 Coproporphyria, 121300 (3), Autosomal dominant, Autosomal recessive; Harderoporphyria, 618892 (3), Autosomal recessive Cpox (MGI:104841) -chr3 98732261 98795851 3q12.1 3q12.1 607156 ST3GAL6, ST3GALVI ST3 beta-galactoside alpha-2,3-sialyltransferase 6 ST3GAL6 10402 ENSG00000064225 St3gal6 (MGI:1888707) -chr3 98795940 98901694 3q12.1 3q12.1 608698 DCBLD2, ESDN Discoidin, CUB, and LCCL domain-containing protein 2 DCBLD2 131566 ENSG00000057019 Dcbld2 (MGI:1920629) -chr3 99638593 99799216 3q12-q13.1 3q12.1 120251 COL8A1 Collagen VIII, alpha-1 polypeptide COL8A1 1295 ENSG00000144810 Col8a1 (MGI:88463) -chr3 99828810 100114500 3q12.1 3q12.1 612993 FILIP1L Filamin A-interacting protein 1-like FILIP1L 11259 ENSG00000168386 Filip1l (MGI:1925999) -chr3 100185823 100194185 3q12 3q12.1 611030 TMEM30C, CDC50C Transmembrane protein 30C TMEM30CP 644444 ENSG00000235156 -chr3 100260991 100325237 3q12.1-q12.2 3q12.1-q12.2 617687 TBC1D23, PCH11 TBC1 domain family, member 23 TBC1D23 55773 ENSG00000036054 Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive Tbc1d23 (MGI:1914831) -chr3 100334756 100361634 3q12.2 3q12.2 616769 NIT2 Nitrilase family member 2 NIT2 56954 ENSG00000114021 Nit2 (MGI:1261838) -chr3 100363430 100401088 3q12.2 3q12.2 606081 TOMM70 Translocase of outer mitochondrial membrane 70 TOMM70 9868 ENSG00000154174 Tomm70a (MGI:106295) -chr3 100492618 100577445 3q12.2 3q12.2 616928 TMEM45A, DERP7, DNAPTP4 Transmembrane protein 45A TMEM45A 55076 ENSG00000181458 Tmem45a,Tmem45a2 (MGI:1913122,MGI:1916707) -chr3 100609600 100696173 3q12.2 3q12.2 612307 ADGRG7, GPR128 Adhesion G protein-coupled receptor G7 ADGRG7 84873 ENSG00000144820 Adgrg7 (MGI:2441732) -chr3 100709289 100748966 3q11-q12 3q12.2 602498 TFG, HMSNP, SPG57 Trafficking from ER to Golgi regulator TFG 10342 ENSG00000114354 fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family ?Spastic paraplegia 57, autosomal recessive, 615658 (3), Autosomal recessive; Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3), Autosomal dominant Tfg (MGI:1338041) -chr3 100749155 100993507 3q12 3q12.2 606279 TARSH Target of Nesh-SH3 ABI3BP 25890 ENSG00000154175 Abi3bp (MGI:2444583) -chr3 101222545 101320574 3q11.2 3q12.3 607056 IMPG2, IPM200, RP56, VMD5 Interphotoreceptor matrix proteoglycan 2 IMPG2 50939 ENSG00000081148 Retinitis pigmentosa 56, 613581 (3), Autosomal recessive; Macular dystrophy, vitelliform, 5, 616152 (3), Autosomal dominant Impg2 (MGI:3044955) -chr3 101324204 101513882 3q12.3 3q12.3 612846 SENP7, KIAA1707 Sentrin-specific protease family, member 7 SENP7 57337 ENSG00000138468 Senp7 (MGI:1913565) -chr3 101561867 101566445 3q12.3 3q12.3 615423 TRMT10C, RG9MTD1, MRPP1, COXPD30 tRNA methyltransferase 10C, mitochondrial RNase P subunit TRMT10C 54931 ENSG00000174173 Combined oxidative phosphorylation deficiency 30, 616974 (3), Autosomal recessive Trmt10c (MGI:1196261) -chr3 101574093 101594464 3q12.3 3q12.3 615210 PCNP PEST-containing nuclear protein PCNP 57092 ENSG00000081154 Pcnp (MGI:1923552) -chr3 101648888 101677131 3q12.3 3q12.3 618181 ZBTB11, MRT69 Zinc finger- and BTB domain-containing protein 11 ZBTB11 27107 ENSG00000066422 Intellectual developmental disorder, autosomal recessive 69, 618383 (3), Autosomal recessive Zbtb11 (MGI:2443876) -chr3 101681090 101686717 3q 3q12.3 604180 RPL24 Ribosomal protein L24 RPL24 6152 ENSG00000114391 Rpl24 (MGI:1915443) -chr3 101723930 101770561 3q12.2 3q12.3 615864 CEP97 Centrosomal protein, 97kD CEP97 79598 ENSG00000182504 Cep97 (MGI:1921451) -chr3 101827989 101861021 3q12.3 3q12.3 608004 NFKBIZ, INAP, MAIL, IKBZ Nuclear factor kappa-B inhibitor, zeta NFKBIZ 64332 ENSG00000144802 Nfkbiz (MGI:1931595) -chr3 102385143 102479840 3q12.3 3q12.3 615915 ZPLD1 Zona pellucida-like domain-containing protein 1 ZPLD1 131368 ENSG00000170044 Zpld1 (MGI:2443415) -chr3 105366908 105576899 3q13.1-q13.2 3q13.11 601662 ALCAM Activated leukocyte cell adhesion molecule ALCAM 214 ENSG00000170017 Alcam (MGI:1313266) -chr3 105655460 105869551 3q13.11 3q13.11 604491 CBLB CAS-BR-M murine ecotropic retroviral transforming sequence B CBLB 868 ENSG00000114423 Cblb (MGI:2146430) -chr3 107240691 107326963 3q13.12 3q13.12 616619 DUBR, DUM, LINC0883 DPPA2 upstream-binding RNA, noncoding DUBR 344595 ENSG00000243701 Dubr (MGI:1915440) -chr3 108043090 108094199 3q13.1-q13.2 3q13.12 601028 CD47, MER6, IAP CD47 antigen (Rh-related antigen; integrin-associated protein) CD47 961 ENSG00000196776 Cd47 (MGI:96617) -chr3 108160811 108222423 3p12-q13 3q13.12-q13.13 606621 IFT57, ESRRBL1, HIPPI, OFD18 Intraflagellar transport 57 (HIP1 protein interactor) IFT57 55081 ENSG00000114446 mutation identified in 1 OFD18 family ?Orofaciodigital syndrome XVIII, 617927 (3), Autosomal recessive Ift57 (MGI:1921166) -chr3 108200000 111600000 3q13.1 600467 MHS4 Malignant hyperthermia susceptibility 4 4265 {Malignant hyperthermia susceptibility 4}, 600467 (2), Autosomal dominant -chr3 108296489 108378284 3q13.13 3q13.13 604371 HHLA2 Human endogenous retrovirus-H long terminal repeat-associating 2 HHLA2 11148 ENSG00000114455 -chr3 108380367 108549461 3q13.13 3q13.13 609929 MYH15 Myosin, heavy chain 15 MYH15 22989 ENSG00000144821 Myh15 (MGI:3643515) -chr3 108545751 108589455 3q13.13 3q13.13 610643 CIP2A, KIAA1524, p90 Cell proliferation-regulating inhibitor of protein phosphatase 2A CIP2A 57650 ENSG00000163507 Cip2a (MGI:2146335) -chr3 108589489 108694839 3q13.13 3q13.13 608672 DZIP3, KIAA0675 DAZ-interacting zinc finger protein 3 DZIP3 9666 ENSG00000198919 Dzip3 (MGI:1917433) -chr3 108755637 108757409 3q13.13 3q13.13 605645 RETNLB, RELMB, FIZZ2 Resistin-like protein, beta RETNLB 84666 ENSG00000163515 Retnlb,Retnla,Retnlg (MGI:2667763,MGI:1888504,MGI:1888505) -chr3 108822785 108855004 3q13 3q13.13 604962 TRAT1, TRIM T-cell receptor-associated transmembrane adaptor 1 TRAT1 50852 ENSG00000163519 Trat1 (MGI:1924897) -chr3 108907643 108955194 3q13.1 3q13.13 605128 GUCA1C, GCAP3 Guanylate cyclase activator 1C GUCA1C 9626 ENSG00000138472 -chr3 108958247 109118133 3q13 3q13.13 603205 MORC1 MORC family CW-type zinc finger 1 (microrchidia, mouse, homolog of) MORC1 27136 ENSG00000114487 Morc1 (MGI:1316740) -chr3 109293787 109316588 3q13.13 3q13.13 614445 DPPA2, PESCRG1, ECAT15-2 Developmental pluripotency-associated gene 2 DPPA2 151871 ENSG00000163530 Dppa2 (MGI:2157523) -chr3 109326140 109339634 3q13.13 3q13.13 614125 DPPA4 Developmental pluripotency-associated gene 4 DPPA4 55211 ENSG00000121570 Dppa4 (MGI:2157525) -chr3 111071763 111201443 3q13 3q13.13 607147 NECTIN3, PVRL3, PRR3 Nectin 3 NECTIN3 25945 ENSG00000177707 Nectin3 (MGI:1930171) -chr3 111542117 111665995 3q13.13 3q13.1-q13.2 606037 CD96, TACTILE CD96 antigen CD96 10225 ENSG00000153283 C syndrome, 211750 (3), Autosomal dominant Cd96 (MGI:1934368) -chr3 111592899 111595345 3q13.2 3q13.13 615246 ZBED2 Zinc finger BED domain-containing protein 2 ZBED2 79413 ENSG00000177494 Zbed3 (MGI:1919364) -chr3 111600000 122200000 3q13.2-q13.33 614655 STUT3 Stuttering, familial persistent, 3 100909386 max lod at D3S1310 Stuttering, familial persistent, 3, 614655 (2) -chr3 111674675 111846446 3q13.2 3q13.2 617015 PLCXD1 Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 2 PLCXD2 257068 ENSG00000240891 Plcxd2 (MGI:3647874) -chr3 111732495 111976516 3q13.2 3q13.2 610298 PHLDB2 Pleckstrin homology-like domain, family B, member 2 PHLDB2 90102 ENSG00000144824 Phldb2 (MGI:2444981) -chr3 111979025 111993367 3q13.2 3q13.2 618756 ABHD10 Abhydrolase domain-containing protein 10, depalmitoylase ABHD10 55347 ENSG00000144827 Abhd10 (MGI:2442422) -chr3 111998921 112013884 3q13.2 3q13.2 607953 TAGLN3, NP24, NP22 Transgelin 3 TAGLN3 29114 ENSG00000144834 Tagln3 (MGI:1926784) -chr3 112086348 112136378 3q13.2 3q13.2 611956 C3orf52, TTMP Chromosome 3 open reading frame 52 C3orf52 79669 ENSG00000114529 BC016579 (MGI:2384848) -chr3 112120838 112133955 3q13 3q13.2 607792 GCET2, HGAL Germinal center-expressed transcript 2 GCSAM 257144 ENSG00000174500 Gcsam (MGI:102969) -chr3 112140897 112294257 3q13.2 3q13.2 612738 SLC9A10 Solute carrier family 9, member 10 SLC9C1 285335 ENSG00000172139 Slc9c1 (MGI:2685456) -chr3 112332572 112362811 3q12-q13 3q13.2 155970 MOX2 MRC OX-2 antigen CD200 4345 ENSG00000091972 Cd200 (MGI:1196990) -chr3 112463029 112499756 3q13.2 3q13.2 607925 BTLA B- and T-lymphocyte attenuator BTLA 151888 ENSG00000186265 Btla (MGI:2658978) -chr3 112532509 112561961 3q13.2 3q13.2 609606 ATG3, APG3 Autophagy-related 3 ATG3 64422 ENSG00000144848 Atg3 (MGI:1915091) -chr3 112596796 112641142 3q13.2 3q13.2 608298 CCDS80, URB, SSG1 Coiled-coil domain-containing protein 80 CCDC80 151887 ENSG00000091986 Ccdc80 (MGI:1915146) -chr3 112921204 112975102 3q13.1 3q13.2 607546 CD200R1, MOX2R, OX2R CD200 receptor 1 CD200R1 131450 ENSG00000163606 Cd200r2,Cd200r1,Cd200r4,Cd200r3 (MGI:3036289,MGI:1921853,MGI:3042847,MGI:1889024) -chr3 113002443 113019720 3q13.2 3q13.2 617089 NEPRO, C3orf17, ANXD3 Nucleolus and neural progenitor protein NEPRO 25871 ENSG00000163608 Anauxetic dysplasia 3, 618853 (3), Autosomal recessive Nepro (MGI:2384836) -chr3 113211002 113287462 3q13.2 3q13.2 608708 BOC Brother of CDON BOC 91653 ENSG00000144857 Boc (MGI:2151153) -chr3 113286929 113441513 3q13.2 3q13.2 617559 CFAP44, WDR52, SPGF20 Cilia- and flagella-associated protein 44 CFAP44 55779 ENSG00000206530 mutation identified in 1 SPGF20 patient ?Spermatogenic failure 20, 617593 (3), Autosomal recessive Cfap44 (MGI:1277238) -chr3 113442717 113515155 3q13.2 3q13.2 613447 SPICE1, CCDC52 Spindle- and centriole-associated protein 1 SPICE1 152185 ENSG00000163611 Spice1 (MGI:1196252) -chr3 113532295 113629578 3q13.2 3q13.2 606816 SIDT1 SID1 transmembrane family, member 1 SIDT1 54847 ENSG00000072858 Sidt1 (MGI:2443155) -chr3 113648384 113696656 3q13.2 3q13.2 617568 USF3 Upstream transcription factor family, member 3 USF3 205717 ENSG00000176542 Usf3 (MGI:2685454) -chr3 113700000 117600000 3q13.31 615433 DEL3q13.31, C13DELq13.31 Chromosome 3q13.31 deletion syndrome Chromosome 3q13.31 deletion syndrome, 615433 (4), Autosomal dominant -chr3 113716457 113746248 3q13.2 3q13.31 610834 NAA50, NAT13, NAT5, SAN N-alpha-acetyltransferase 50, NatE catalytic subunit NAA50 80218 ENSG00000121579 Naa50 (MGI:1919367) -chr3 113747034 113812055 3p13 3q13.31 607027 ATP6V1A, HO68, ARCL2D, DEE93 ATPase, H+ transporting, V1 subunit A ATP6V1A 523 ENSG00000114573 Cutis laxa, autosomal recessive, type IID, 617403 (3), Autosomal recessive; Developmental and epileptic encephalopathy 93, 618012 (3), Autosomal dominant Atp6v1a (MGI:1201780) -chr3 113947900 113998001 3q13.31 3q13.31 617334 ZDHHC23, NIDD Zinc finger DHHC-type containing 23 ZDHHC23 254887 ENSG00000184307 Zdhhc23 (MGI:2685625) -chr3 114127579 114199406 3q13.3 3q13.31 126451 DRD3, ETM1, FET1 Dopamine receptor D3 DRD3 1814 ENSG00000151577 {Essential tremor, hereditary, 1}, 190300 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant Drd3 (MGI:94925) -chr3 114234630 114237577 3p12-qter 3q13.31 194553 ZNF80 Zinc finger protein-80 (pT17) ZNF80 7634 ENSG00000174255 -chr3 114291101 114329746 3q13.3 3q13.31 612859 TIGIT T-cell immunoreceptor with immunoglobulin and ITIM domains TIGIT 201633 ENSG00000181847 Tigit (MGI:3642260) -chr3 114314499 115147287 3q13.2 3q13.31 606025 ZBTB20, ZNF288, DPZF, PRIMS Zinc finger and BTB-domain containing 20 ZBTB20 26137 ENSG00000181722 Primrose syndrome, 259050 (3), Autosomal dominant Zbtb20 (MGI:1929213) -chr3 115623509 115721484 3q13 3q13.31 162060 GAP43 Neuron growth-associated protein 43 GAP43 2596 ENSG00000172020 Gap43 (MGI:95639) -chr3 115802373 116445486 3q13.2-q21 3q13.31 603241 LSAMP, LAMP Limbic system-associated membrane protein LSAMP 4045 ENSG00000185565 Lsamp (MGI:1261760) -chr3 116709787 116717039 3q13.31 3q13.31 616057 TUSC7, LSAMPAS3, LOC285194 Tumor suppressor candidate 7, noncoding TUSC7 285194 ENSG00000243197 -chr3 119173597 119205142 3q13.3-q21 3q13.32 602380 UPK1B Uroplakin 1B UPK1B 7348 ENSG00000114638 Upk1b (MGI:98912) -chr3 119211741 119240906 3q13.3 3q13.32 604015 B4GALT4 Beta-1,4-galactosyltransferase 4 B4GALT4 8702 ENSG00000121578 B4galt4 (MGI:1928387) -chr3 119294288 119420713 3q13.3 3q13.32-q13.33 610911 ARHGAP31, CDGAP, KIAA1204, AOS1 Rho GTPase-activating protein 31 ARHGAP31 57514 ENSG00000031081 Adams-Oliver syndrome 1, 100300 (3), Autosomal dominant Arhgap31 (MGI:1333857) -chr3 119300000 122200000 3q13 608901 CHDS5 Coronary heart disease, susceptibility to, 5 {Coronary heart disease, susceptibility to, 5}, 608901 (2) -chr3 119468954 119494707 3q13.33 3q13.33 615618 POGLUT1, CLP46, KTELC1, RUMI, C3orf9, DDD4, LGMDR21 Protein O-glucosyltransferase 1 POGLUT1 56983 ENSG00000163389 mutation identified in 1 LGMDR21 family Dowling-Degos disease 4, 615696 (3), Autosomal dominant; ?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3), Autosomal recessive Poglut1 (MGI:2444232) -chr3 119498524 119525089 3q13.33 3q13.33 615534 TIMMDC1, C3orf1, MC1DN31 Translocase of inner mitochondrial membrane domain-containing protein 1 TIMMDC1 51300 ENSG00000113845 Mitochondrial complex I deficiency, nuclear type 31, 618251 (3), Autosomal recessive Timmdc1 (MGI:1922139) -chr3 119524292 119559613 3q21 3q13.33 112203 CD80, CD28LG, LAB7 CD80 antigen (CD28 antigen ligand 1, B7-1 antigen) CD80 941 ENSG00000121594 Cd80 (MGI:101775) -chr3 119579491 119589944 3q13.33 3q13.33 603081 ADPRH ADP-ribosylarginine hydrolase ADPRH 141 ENSG00000144843 Adprh (MGI:1098234) -chr3 119597875 119629810 3q13.2-q13.3 3q13.33 607460 PLA1A, PSPLA1 Phosphatidylserine-specific phospholipase A1-alpha PLA1A 51365 ENSG00000144837 Pla1a (MGI:1934677) -chr3 119642055 119660588 3q13.3 3q13.33 605823 POPDC2, POP2 Popeye domain-containing protein 2 POPDC2 64091 ENSG00000121577 Popdc2 (MGI:1930150) -chr3 119663974 119677405 3q 3q13.33 604813 COX17 Cytochrome c oxidase assembly protein COX17 COX17 10063 ENSG00000138495 pseudogene on chr. 13? Cox17 (MGI:1333806) -chr3 119703021 119767101 3q13.33 3q13.33 609910 CFAP91, MAATS1, AAT1, C3orf15, SPGF51 Cilia- and flagella-associated protein 91 CFAP91 89876 ENSG00000183833 Spermatogenic failure 51, 619177 (3), Autosomal recessive Cfap91 (MGI:2443598) -chr3 119782100 119818486 3q13-q21 3q13.33 603065 NR1I2, PXR, SXR, PARq Nuclear receptor subfamily 1, group I, member 2 NR1I2 8856 ENSG00000144852 Nr1i2 (MGI:1337040) -chr3 119821320 120095822 3q13.3 3q13.33 605004 GSK3B Glycogen synthase kinase 3-beta GSK3B 2932 ENSG00000082701 Gsk3b (MGI:1861437) -chr3 120165477 120285221 3q13.33 3q13.33 610464 GPR156, GABABL G protein-coupled receptor 156 GPR156 165829 ENSG00000175697 Gpr156 (MGI:2653880) -chr3 120392292 120450992 3q13.3 3q13.33 605547 FSTL1, FRP, MIR198 Follistatin-like 1 FSTL1 11167 ENSG00000163430 FSTL1 mRNA can encode a protein or produce an micoRNA Fstl1 (MGI:102793) -chr3 120596335 120602506 3q13.33 3q13.33 603840 NDUFB4 NADH-ubiquinone oxidoreductase subunit B4 NDUFB4 4710 ENSG00000065518 Ndufb4b,Ndufb4 (MGI:1915444,MGI:3782046) -chr3 120628167 120682554 3q13.33 3q13.33 607474 HGD, AKU Homogentisate 1,2-dioxygenase (homogentisate oxidase) HGD 3081 ENSG00000113924 Alkaptonuria, 203500 (3), Autosomal recessive Hgd (MGI:96078) -chr3 120684937 120742679 3q13.3 3q13.33 618542 RABL3, PNCA5 RAB, member of RAS oncogene family-like 3 RABL3 285282 ENSG00000144840 mutation identified in 1 PNCA5 family {?Pancreatic cancer, susceptibility to, 5}, 618680 (3), Autosomal dominant Rabl3 (MGI:1914907) -chr3 120742743 120783068 3q13.33 3q13.33 189962 GTF2E1, TF2E1 General transcription factor IIE, polypeptide 1 GTF2E1 2960 ENSG00000153767 Gtf2e1 (MGI:1921447) -chr3 120908204 121424760 3q13.3 3q13.33 609381 STXBP5L, LLGL4 Syntaxin-binding protein 5-like STXBP5L 9515 ENSG00000145087 Stxbp5l (MGI:2443815) -chr3 121431430 121545987 3q13.3 3q13.33 604419 POLQ Polymerase, DNA, theta POLQ 10721 ENSG00000051341 Polq (MGI:2155399) -chr3 121567948 121590621 3q13.3 3q13.33 611164 ARGFX Arginine-fifty homeobox ARGFX 503582 ENSG00000186103 pseudogenes on 5q23.2 and 17q11.2 -chr3 121593378 121630294 3q21.1 3q13.33 609107 FBXO40, FBX40, KIAA1195 F-box only protein 40 FBXO40 51725 ENSG00000163833 Fbxo40 (MGI:2443753) -chr3 121631398 121660902 3q13 3q13.33 601306 HCLS1 Hematopoietic cell-specific Lyn substrate 1 HCLS1 3059 ENSG00000180353 Hcls1 (MGI:104568) -chr3 121663200 121751168 3q13 3q13.33 602500 GOLGB1, GCP372 Golgin B1 GOLGB1 2804 ENSG00000173230 Golgb1 (MGI:1099447) -chr3 121769760 121835059 3q13.33 3q13.33 609237 IQCB1, NPHP5, KIAA0036 IQ motif-containing protein B1 IQCB1 9657 ENSG00000173226 Senior-Loken syndrome 5, 609254 (3), Autosomal recessive Iqcb1 (MGI:2443764) -chr3 121835179 121886525 3q13.33 3q13.33 607659 EAF2 ELL-associated factor 2 EAF2 55840 ENSG00000145088 Eaf2 (MGI:2146616) -chr3 121894400 121944187 3q13.33 3q13.33 602339 SLC15A2, PEPT2 Solute carrier family 15 (H+/peptide transporter), member 2 SLC15A2 6565 ENSG00000163406 Slc15a2 (MGI:1890457) -chr3 121987322 122060553 3q21.1 3q13.33 609739 ILDR1, DFNB42 Immunoglobulin-like domain-containing receptor 1 ILDR1 286676 ENSG00000145103 Deafness, autosomal recessive 42, 609646 (3), Autosomal recessive Ildr1 (MGI:2146574) -chr3 122055361 122121135 3q21 3q13.33 601020 CD86, CD28LG2, LAB72 CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) CD86 942 ENSG00000114013 Cd86 (MGI:101773) -chr3 122183667 122291628 3q21.1 3q13.3-q21.1 601199 CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1 Calcium-sensing receptor CASR 846 ENSG00000036828 15cM from RHO Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3), Autosomal dominant; {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hyperparathyroidism, neonatal, 239200 (3), Autosomal dominant, Autosomal recessive; Hypocalcemia, autosomal dominant, 601198 (3), Autosomal dominant; Hypocalciuric hypercalcemia, type I, 145980 (3), Autosomal dominant Casr (MGI:1351351) -chr3 122325247 122341968 3q21 3q21.1 184600 CSTA, STFA, STF1, AREI, PSS4 Cystatin A (stefin A) CSTA 1475 ENSG00000121552 Peeling skin syndrome 4, 607936 (3), Autosomal recessive Stfa3,Csta3,Stfa2,Csta1,Stfa1,Csta2,Stfa2l1,Cstdc6,Cstdc5,Cstdc4 (MGI:3524930,MGI:3644688,MGI:3696881,MGI:1924020,MGI:106198,MGI:3696883,MGI:3524944,MGI:3645124,MGI:106196,MGI:106197) -chr3 122384181 122412333 3q21.1 3q21.1 608017 FAM162A, ,C3orf28, E2IG5 Family with sequence similiarity 162, member A FAM162A 26355 ENSG00000114023 Fam162a (MGI:1917436) -chr3 122421901 122514938 3q21 3q21.1 600686 KPNA1, RCH2, SRP1 Karyopherin, alpha-1 KPNA1 3836 ENSG00000114030 Kpna1 (MGI:103560) -chr3 122527923 122564783 3q21 3q21.1 612065 PARP9, BAL1, BAL Poly(ADP-ribose) polymerase 9 PARP9 83666 ENSG00000138496 Parp9 (MGI:1933117) -chr3 122564337 122575202 3q21 3q21.1 613143 DTX3L, BBAP Deltex E3 ubiquitin liase 3L DTX3L 151636 ENSG00000163840 head-to-head with PARP9 Dtx3l (MGI:2656973) -chr3 122575925 122639046 3q21 3q21.1 612066 PARP15, BAL3 Poly(ADP-ribose) polymerase 15 PARP15 165631 ENSG00000173200 -chr3 122680725 122730839 3q21.1 3q21.1 610028 PARP14, KIAA1268 Poly(ADP-ribose) polymerase 14 PARP14 54625 ENSG00000173193 Parp14 (MGI:1919489) -chr3 122739996 122793830 3q21.1 3q21.1 608263 HSPBAP1, PASS1 Heat-shock 27kD protein-associated protein 1 HSPBAP1 79663 ENSG00000169087 Hspbap1 (MGI:1913917) -chr3 122795057 122892156 3q21.1 3q21.1 602773 SLC49A4, DIRC2, RCC4 Solute carrier family 48, member 4 SLC49A4 84925 ENSG00000138463 t(2;3)(q35;q21) in renal cell carcinoma Slc49a4 (MGI:2387188) -chr3 122909081 123028604 3q21.1 3q21.1 609298 SEMA5B, SEMG, KIAA1445 Semaphorin 5B SEMA5B 54437 ENSG00000082684 Sema5b (MGI:107555) -chr3 123067024 123162103 3q21.1 3q21.1 616942 PDIA5, PDIR Protein disulfide isomerase, family A, member 5 PDIA5 10954 ENSG00000065485 Pdia5 (MGI:1919849) -chr3 123201942 123274135 3q21.1 3q21.1 612442 SEC22A, SEC22L2 SEC22 homolog A, vesicle trafficking protein SEC22A 26984 ENSG00000121542 Sec22a (MGI:2447876) -chr3 123282295 123449089 3q13.2-q21 3q21.1 600293 ADCY5, FDFM Adenylate cyclase-5 ADCY5 111 ENSG00000173175 Dyskinesia, familial, with facial myokymia, 606703 (3), Autosomal dominant Adcy5 (MGI:99673) -chr3 123491547 123585098 3q21.1 3q21.1 615939 PTPLB, HACD2 Protein tyrosine phosphatase-like (proline instead of catalytic arginine), member B HACD2 201562 ENSG00000206527 Hacd2 (MGI:1918007) -chr3 123610048 123884331 3q21 3q21.1 600922 MYLK, MLCK, AAT7, MMIHS1 Myosin-light-polypeptide kinase MYLK 4638 ENSG00000065534 pseudogene on 3p13 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, 249210 (3), Autosomal recessive; Aortic aneurysm, familial thoracic 7, 613780 (3), Autosomal dominant Mylk (MGI:894806) -chr3 123887382 123961411 3q21.1 3q21.1 617147 CCDC14 Coiled-coil domain-containing protein 14 CCDC14 64770 ENSG00000175455 Ccdc14 (MGI:2443448) -chr3 123969014 123992123 3q21.1 3q21.1 611757 ROPN1, ODF6 Rhophilin-associated tail protein 1 ROPN1 54763 ENSG00000065371 Ropn1 (MGI:1923628) -chr3 124033340 124726324 3q13 3q21.1-q21.2 604605 KALRN, HAPIP, DUO Kalirin KALRN 8997 ENSG00000160145 Kalrn (MGI:2685385) -chr3 124730441 124749272 3q13 3q21.2 613891 UMPS, OPRT Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) UMPS 7372 ENSG00000114491 Orotic aciduria, 258900 (3), Autosomal recessive Umps (MGI:1298388) -chr3 124761947 124901417 3q21.2 3q21.2 147561 ITGB5 Integrin, beta-5 ITGB5 3693 ENSG00000082781 Itgb5 (MGI:96614) -chr3 124905441 124934750 3q13.3 3q21.2 612181 MUC13 Mucin 13, cell surface-associated MUC13 56667 ENSG00000173702 Muc13 (MGI:103190) -chr3 124965709 125055996 3q21.2 3q21.2 614182 HEG1, KIAA1237 Heart of glass, zebrafish, homolog of, 1 HEG1 57493 ENSG00000173706 Heg1 (MGI:1924696) -chr3 125082643 125212747 3q21.2 3q21.2 611316 SLC12A8 Solute carrier family 12 (sodium/potassium/chloride transporter), member 8 SLC12A8 84561 ENSG00000221955 Slc12a8 (MGI:2443672) -chr3 125225668 125375353 3q21 3q21.2 601897 ZNF148, ZFP148, GDACCF Zinc finger protein-148 ZNF148 7707 ENSG00000163848 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3), Autosomal dominant Zfp148 (MGI:1332234) -chr3 125446643 125520201 3q21.2 3q21.2 605931 SNX4 Sorting nexin 4 SNX4 8723 ENSG00000114520 Snx4 (MGI:1916400) -chr3 125528857 125595496 3q21.1 3q21.2 606739 OSBPL11, ORP11 Oxysterol-binding protein-like protein 11 OSBPL11 114885 ENSG00000144909 previously assigned to chr.8 Osbpl11 (MGI:2146553) -chr3 126006356 126101549 3q21.2 3q21.2-q21.3 610803 SLC41A3 Solute carrier family 41, member 3 SLC41A3 54946 ENSG00000114544 Slc41a3 (MGI:1918949) -chr3 126100000 129500000 3q21 603165 ATOD1 Dermatitis, atopic, 1 64069 max lod at D3S3606 {Dermatitis, atopic, susceptibility to, 1}, 603165 (2), Autosomal dominant -chr3 126100000 155300000 3q21-q25.2 614011 ERVK-4, HERV-KI Endogenous retrovirus group K, member 4 ERVK-4 60359 -chr3 126100000 129500000 3q21 613460 FGQTL6, BWQTL3 Fasting plasma glucose level QTL 6; Birth weight QTL 3 100499168 associated with rs11708067 and rs11708067 [Birth weight QTL 3], 613460 (2); [Fasting plasma glucose level QTL 6], 613460 (2) -chr3 126100000 149200000 3q21-q24 601682 GLC1C Glaucoma 1, open angle, C 2723 Glaucoma 1C, primary open angle, 601682 (2), Autosomal dominant -chr3 126100000 139000000 3q21-q22 601471 HCFP1, MBS2 Facial paresis, hereditary congenital, 1 7880 Facial paresis, hereditary congenital, 1, 601471 (2), Autosomal dominant -chr3 126100000 129500000 3q21 604316 PSORS5 Psoriasis susceptibility 5 63870 {Psoriasis susceptibility 5}, 604316 (2) -chr3 126103564 126197757 3q21.3 3q21.3 600249 ALDH1L1, FTHFD Aldehyde dehydrogenase 1 family, member L1 ALDH1L1 10840 ENSG00000144908 Aldh1l1 (MGI:1340024) -chr3 126288120 126357407 3q21-q22 3q21.3 606465 KLF15, KKLF Kruppel-like factor 15 KLF15 28999 ENSG00000163884 Klf15 (MGI:1929988) -chr3 126437347 126475937 3q21.3 3q21.3 615746 ZXDC ZCD family zinc finger protein C ZXDC 79364 ENSG00000070476 Zxdc (MGI:1933108) -chr3 126481165 126517772 3q21.3 3q21.3 613012 UROC1, UROCD Urocanase domain-containing protein 1 UROC1 131669 ENSG00000159650 mutation identified in 1 UROCD patient ?Urocanase deficiency, 276880 (3), Autosomal recessive Uroc1 (MGI:2385332) -chr3 126524154 126543290 3q21.3 3q21.3 610124 CHST13, C4ST3 Carbohydrate sulfotransferase 13 CHST13 166012 ENSG00000180767 Chst13 (MGI:1919047) -chr3 126607049 126655123 3q21 3q21.3 606235 TXNRD3, TRXR3, TR2 Thioredoxin reductase 3 TXNRD3 114112 ENSG00000197763 Txnrd3 (MGI:2386711) -chr3 126704239 126960419 3q21.3 3q21.3 615634 CHCHD6, CHCM1 Coiled-coil-helix-coiled-coil-helix domain-containing protein 6 CHCHD6 84303 ENSG00000159685 Chchd6 (MGI:1913348) -chr3 126983114 127037388 3q21-qter 3q21.3 601055 PLXNA1, NOVP, NOV, PLXN1 Plexin A1 (NOV transmembrane protein) PLXNA1 5361 ENSG00000114554 Plxna1 (MGI:107685) -chr3 127598410 127622435 3q21 3q21.3 116945 MCM2, CDCL1, DFNA70 Minichromosome maintenance deficient, S. cerevisiae, 2, homolog of (mitotin) MCM2 4171 ENSG00000073111 mutation identified in 1 DFNA70 family ?Deafness, autosomal dominant 70, 616968 (3), Autosomal dominant Mcm2 (MGI:105380) -chr3 127629184 127672801 3q21.3 3q21.3 616627 PODXL2, EG Podocalyxin-like 2 PODXL2 50512 ENSG00000114631 Podxl2 (MGI:2442488) -chr3 127672927 127680925 3q21 3q21.3 608308 ABTB1, BPOZ Ankyrin repeat and BTB/POZ domain containing 1 ABTB1 80325 ENSG00000114626 Abtb1 (MGI:1933148) -chr3 127689065 127823184 3p21.3 3q21.3 609699 MGLL, MGL, HUK5 Monoglyceride lipase MGLL 11343 ENSG00000074416 Mgll (MGI:1346042) -chr3 128052436 128071682 3q21.3 3q21.3 609213 SEC61A1, SEC61, ADTKD5 SEC61 translocon, alpha-1 subunit SEC61A1 29927 ENSG00000058262 Tubulointerstitial kidney disease, autosomal dominant, 5, 617056 (3), Autosomal dominant Sec61a1 (MGI:1858417) -chr3 128064610 128153913 3q21 3q21.3 603449 RUVBL1, NMP238, TIP49 RUVB, E. coli, homolog-like 1 RUVBL1 8607 ENSG00000175792 Ruvbl1 (MGI:1928760) -chr3 128153452 128426192 3q21.3 3q21.3 607695 EEFSEC, SELB, EFSEC Eukaryotic elongation factor, selenocysteine-tRNA-specific EEFSEC 60678 ENSG00000132394 Eefsec (MGI:2137092) -chr3 128462433 128467074 3q21.3 3q21.3 611337 DNAJB8, DJ6 DNAJ/HSP40 homolog, subfamily B, member 8 DNAJB8 165721 ENSG00000179407 Dnajb8 (MGI:1922801) -chr3 128479421 128493200 3q21 3q21.3 137295 GATA2, DCML, MONOMAC, IMD21 GATA-binding protein-2 GATA2 2624 ENSG00000179348 {Leukemia, acute myeloid, susceptibility to}, 601626 (3), Somatic mutation, Autosomal dominant; Emberger syndrome, 614038 (3), Autosomal dominant; Immunodeficiency 21, 614172 (3), Autosomal dominant; {Myelodysplastic syndrome, susceptibility to}, 614286 (3) Gata2 (MGI:95662) -chr3 128571999 128576085 3q21 3q21.3 618259 LINC01565 Long intergenic noncoding RNA 1565 LINC01565 23434 ENSG00000198685 -chr3 128619968 128650817 3q 3q21.3 180470 RPN1 Ribophorin I RPN1 6184 ENSG00000163902 Rpn1 (MGI:98084) -chr3 128726182 128814797 3q21 3q21.3 602298 RAB7, CMT2B, PSN Ras-associated protein RAB7 RAB7A 7879 ENSG00000075785 Charcot-Marie-Tooth disease, type 2B, 600882 (3), Autosomal dominant Rab7 (MGI:105068) -chr3 128879595 128913113 3q26 3q21.3 611103 ACAD9, MC1DN20 Acyl-CoA dehydrogenase family, member 9 ACAD9 28976 ENSG00000177646 Mitochondrial complex I deficiency, nuclear type 20, 611126 (3), Autosomal recessive Acad9 (MGI:1914272) -chr3 129055448 129062410 3q21 3q21.3 173515 GP9 Glycoprotein IX, platelet GP9 2815 ENSG00000169704 Bernard-Soulier syndrome, type C, 231200 (3), Autosomal recessive Gp9 (MGI:1860137) -chr3 129127414 129161062 3q21.3 3q21.3 612764 ISY1, KIAA1160 ISY1 splicing factor, S. cerevisiae, homolog of ISY1 57461 ENSG00000240682 Isy1 (MGI:1923310) -chr3 129167826 129183895 3q21.3 3q21.3 116955 CNBP, ZNF9, CNBP1, DM2, PROMM CCHC-type zinc finger nucleic acid-binding protein CNBP 7555 ENSG00000169714 Myotonic dystrophy 2, 602668 (3), Autosomal dominant Cnbp (MGI:88431) -chr3 129249574 129277772 3q21.3 3q21.3 615525 COPG1 Coatomer protein complex, subunit gamma-1 COPG1 22820 ENSG00000181789 Copg1 (MGI:1858696) -chr3 129278831 129306185 3q21.3 3q21.3 618288 HMCES 5-hydroxymethylcytosine-binding protein, embryonic stem cell-specific HMCES 56941 ENSG00000183624 Hmces (MGI:1914053) -chr3 129314770 129316285 3q21.3 3q21.3 602785 H1FX, H1X H1 histone family, member X H1-10 8971 ENSG00000184897 H1f10 (MGI:2685307) -chr3 129430946 129440028 3q21-q22 3q21.3 603574 MBD4, MED1 Methyl-CpG-binding domain protein 4 MBD4 8930 ENSG00000129071 Mbd4 (MGI:1333850) -chr3 129440074 129520506 3q21 3q21.3-q22.1 606045 IFT122, WDR10, CED1 Intraflagellar transport 122 IFT122 55764 ENSG00000163913 Cranioectodermal dysplasia 1, 218330 (3), Autosomal recessive Ift122 (MGI:1932386) -chr3 129528638 129535343 3q21-q24 3q22.1 180380 RHO, RP4, OPN2, CSNBAD1 Rhodopsin (opsin 2) RHO 6010 ENSG00000163914 Night blindness, congenital stationary, autosomal dominant 1, 610445 (3); Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3), Autosomal dominant, Autosomal recessive; Retinitis punctata albescens, 136880 (3), Autosomal dominant, Autosomal recessive Rho (MGI:97914) -chr3 129555213 129606675 3q22 3q22.1 604282 PLXND1 Plexin D1 PLXND1 23129 ENSG00000004399 Plxnd1 (MGI:2154244) -chr3 129647791 129893710 3q22.1 3q22.1 616242 TMCC1, KIAA0779 Transmembrane and coiled-coil domain family 1 TMCC1 23023 ENSG00000172765 Tmcc1 (MGI:2442368) -chr3 129974719 129977934 3q13.3-q21 3q22.1 613879 TRH Thyrotropin-releasing hormone TRH 7200 ENSG00000170893 Thyrotropin-releasing hormone deficiency, 275120 (1), Autosomal recessive Trh (MGI:98823) -chr3 130212819 130273805 3q21 3q22.1 616612 COL6A4P2 Collagen, type VI, alpha-4, pseudogene 2 COL6A4P2 646300 -chr3 130345641 130484845 3q21 3q22.1 611916 COL6A5, COL29A1 Collagen, type VI, alpha-5 COL6A5 256076 ENSG00000172752 Col6a5 (MGI:3648134) -chr3 130516708 130678136 3q21 3q22.1 616613 COL6A6 Collagen, type VI, alpha-6 COL6A6 131873 ENSG00000206384 Col6a6 (MGI:2444259) -chr3 130678933 130746828 3q22.1 3q22.1 602610 PIK3R4 Phosphatidylinositol 3-kinase, regulatory subunit 4 PIK3R4 30849 ENSG00000196455 Pik3r4 (MGI:1922919) -chr3 130850594 131016711 3q21-q24 3q22.1 604384 ATP2C1, BCPM, HHD ATPase, Ca(2+)-sequestering ATP2C1 27032 ENSG00000017260 Hailey-Hailey disease, 169600 (3), Autosomal dominant Atp2c1 (MGI:1889008) -chr3 131026850 131350464 3q21-q22 3q22.1 609779 NEK11 NIMA-related kinase 11 NEK11 79858 ENSG00000114670 Nek11 (MGI:2442276) -chr3 131381670 131388829 3q22.1 3q22.1 617381 NUDT16 Nudix hydrolase 16 NUDT16 131870 ENSG00000198585 Nudt16l2,Nudt16 (MGI:1922936,MGI:1920782) -chr3 131462211 131502970 3q22.1 3q22.1 607118 MRPL3, MRL3, COXPD9 Mitochondrial ribosomal protein L3 MRPL3 11222 ENSG00000114686 Combined oxidative phosphorylation deficiency 9, 614582 (3), Autosomal recessive Mrpl3 (MGI:2137204) -chr3 131533568 132285695 3q22.1 3q22.1 604208 CPNE4, CPN4 Copine IV CPNE4 131034 ENSG00000196353 Cpne4 (MGI:1921270) -chr3 132317402 132368764 3q21-q23 3q22.1 171790 ACPP Acid phosphatase, prostate ACP3 55 ENSG00000014257 Acpp (MGI:1928480) -chr3 132417501 132539031 3q22.1 3q22.1 614334 DNAJC13, RME8, KIAA0678 DNAJ/HSP40 homolog, subfamily C, member 13 DNAJC13 23317 ENSG00000138246 Dnajc13 (MGI:2676368) -chr3 132558140 132659808 3q22.1 3q22.1 614288 ACAD11 Acyl-CoA dehydrogenase family, member 11 ACAD11 84129 ENSG00000240303 Acad11 (MGI:2143169) -chr3 132597269 132602643 3q22 3q22.1 606065 ACKR4, CCRL1, PPR1 Atypical chemokine receptor 4 ACKR4 51554 ENSG00000129048 Ackr4 (MGI:2181676) -chr3 132654429 132679793 3q22 3q22.1 610552 UBA5, UBE1DC1, DEE44, SCAR24 Ubiquitin-like modifier activating enzyme 5 UBA5 79876 ENSG00000081307 mutation identified in 1 SCAR24 family ?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3), Autosomal recessive; Developmental and epileptic encephalopathy 44, 617132 (3), Autosomal recessive Uba5 (MGI:1913913) -chr3 132680608 132722408 3q22 3q22.1 608002 NPHP3, NPH3, RHPD1, MKS7 Nephrocystin 3 NPHP3 27031 ENSG00000113971 Nephronophthisis 3, 604387 (3), Autosomal recessive; Renal-hepatic-pancreatic dysplasia 1, 208540 (3), Autosomal recessive; Meckel syndrome 7, 267010 (3), Autosomal recessive Nphp3 (MGI:1921275) -chr3 133038390 133397774 3q22.1 3q22.1 617361 TMEM108, RTLN, KIAA1690 Transmembrane protein 108 TMEM108 66000 ENSG00000144868 Tmem108 (MGI:1932411) -chr3 133397881 133475207 3q21-q25 3q22.1 603212 BFSP2, CP49, CP47, CTRCT12 Beaded filament structural protein 2 (cytoskeletal protein, 49 kD) BFSP2 8419 ENSG00000170819 Cataract 12, multiple types, 611597 (3), Autosomal dominant Bfsp2 (MGI:1333828) -chr3 133573628 133590273 3q22.1 3q22.1 618789 CDV3, H41 CDV3, mouse, homolog of CDV3 55573 ENSG00000091527 Cdv3 (MGI:2448759) -chr3 133600237 133661967 3q22.1 3q22.1 607760 TOPBP1, KIAA0259 DNA topoisomerase II-binding protein 1 TOPBP1 11073 ENSG00000163781 Topbp1 (MGI:1920018) -chr3 133661997 133796640 3q21 3q22.1 190000 TF, TFQTL1 Transferrin TF 7018 ENSG00000091513 Atransferrinemia, 209300 (3), Autosomal recessive Trf (MGI:98821) -chr3 133784022 133828573 3q22.1 3q22.1 616883 SRPRB, APMCF1 SRP receptor subunit, beta SRPRB 58477 ENSG00000144867 Srprb (MGI:102964) -chr3 133824234 133895881 3q22.1 3q22.1 615852 RAB6B Ras-associated protein RAB6B RAB6B 51560 ENSG00000154917 Rab6b (MGI:107283) -chr3 133932700 134029954 3q21 3q22.1-q22.2 601460 SLCO2A1, OATP2A1, PGT, SLC21A2, PHOAR2, PHOAD Solute carrier organic anion transporter family, member 2A1 SLCO2A1 6578 ENSG00000174640 Hypertrophic osteoarthropathy, primary, autosomal dominant, 167100 (3), Autosomal dominant; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3), Autosomal recessive Slco2a1 (MGI:1346021) -chr3 134157132 134250858 3q22.2 3q22.2 600524 RYK, RYK1 RYK receptor-like tyrosine kinase RYK 6259 ENSG00000163785 Ryk (MGI:101766) -chr3 134355344 134375416 3q22.2 3q22.2 614658 AMOTL2, KIAA0989 Angiomotin-like 2 AMOTL2 51421 ENSG00000114019 Amotl2 (MGI:1929286) -chr3 134477703 134486022 3q22.2 3q22.2 614484 ANAPC13, APC13, SWM1 Anaphase-promoting complex, subunit 13 ANAPC13 25847 ENSG00000129055 Anapc13 (MGI:1916260) -chr3 134485723 134783168 3q22.2 3q22.2 614724 CEP63, SCKL6 Centrosomal protein, 63kD CEP63 80254 ENSG00000182923 mutation identified in 1 family ?Seckel syndrome 6, 614728 (3), Autosomal recessive Cep63 (MGI:2158560) -chr3 134599922 134656052 3q22.2 3q22.2 605739 KY, MFM7 Kyphoscoliosis peptidase KY 339855 ENSG00000174611 Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive Ky (MGI:96709) -chr3 134795259 135260466 3q21-q23 3q22.2 600600 EPHB1, EPHT2, NET eph tyrosine kinase 2 (ephrin receptor EphB1) EPHB1 2047 ENSG00000154928 Ephb1 (MGI:1096337) -chr3 135965672 136149614 3q22 3q22.2-q22.3 604944 PP2R3A, PR72, PR130 Protein phosphatase 2, regulatory subunit B'', alpha PPP2R3A 5523 ENSG00000073711 Ppp2r3a (MGI:2442104) -chr3 136000000 149200000 3q22-q24 611155 AD15 Alzheimer disease 15 max lod at D3S1579 {Alzheimer disease-15}, 611155 (2) -chr3 136000000 139000000 3q22 606012 DFNA18 Deafness, autosomal dominant 18 85507 Deafness, autosomal dominant 18, 606012 (2), Autosomal dominant -chr3 136000000 149200000 3q22-q24 220200 DWS, C3DELq22q24, DEL3q22q24 Dandy-Walker syndrome 1858 ZIC1 and ZIC4 good candidate genes Dandy-Walker syndrome, 220200 (4), Isolated cases -chr3 136000000 149200000 3q22-q24 608787 OTSC5 Otosclerosis 5 317682 max lod at D3S1569 Otosclerosis 5, 608787 (2) -chr3 136000000 161000000 3q22-q25 173865 PABPL1 Polyadenylate-binding protein-like 1 -chr3 136000000 139000000 3q22 616361 PARK21 Parkinson disease 21 108353827 conflicting mapping on 20pter-p12 Parkinson disease 21, 616361 (2), Autosomal dominant -chr3 136000000 139000000 3q22 606995 SLSN3 Senior-Loken syndrome 3 260432 ?allelic with NPHP3 Senior-Loken syndrome 3, 606995 (2), Autosomal recessive -chr3 136148916 136197299 3q22.3 3q22.3 614802 MSL2, KIAA1585 MSL complex subunit 2 MSL2 55167 ENSG00000174579 Msl2 (MGI:1925103) -chr3 136250339 136330168 3q21-q22 3q22.3 232050 PCCB Propionyl Coenzyme A carboxylase, beta polypeptide PCCB 5096 ENSG00000114054 pccB complementation group Propionicacidemia, 606054 (3), Autosomal recessive Pccb (MGI:1914154) -chr3 136336234 136752411 3q22.3 3q22.3 604358 STAG1, MRD47 Stromal antigen 1 STAG1 10274 ENSG00000118007 Mental retardation, autosomal dominant 47, 617635 (3), Autosomal dominant Stag1 (MGI:1098658) -chr3 136819125 136855891 3q22.3 3q22.3 617812 SLC35G2, TMEM22 Solute carrier family 35, member G2 SLC35G2 80723 ENSG00000168917 Slc35g2 (MGI:2685365) -chr3 136862207 136951605 3q21 3q22.3 600508 NCK Non-catalytic region of tyrosine kinase NCK1 4690 ENSG00000158092 Nck1 (MGI:109601) -chr3 136957982 137011084 3q22.3 3q22.3 605621 IL20RB, DIRS1 Interleukin 20 receptor, beta IL20RB 53833 ENSG00000174564 Il20rb (MGI:2143266) -chr3 137764314 137766333 3q23 3q22.3 604747 SOX14 SRY-box 14 SOX14 8403 ENSG00000168875 Sox14 (MGI:98362) -chr3 137998815 138033648 3q22.3 3q22.3 609210 CLDN18 Claudin 18 CLDN18 51208 ENSG00000066405 Cldn18 (MGI:1929209) -chr3 138061989 138115861 3q22.3 3q22.3 617570 DZIP1L, DZIP2, PKD5 DAZ-interacting zinc finger protein 1-like DZIP1L 199221 ENSG00000158163 Polycystic kidney disease 5, 617610 (3), Autosomal recessive Dzip1l (MGI:1919757) -chr3 138123712 138133309 3p14.3 3q22.3 616709 A4GNT Alpha-1,4-N-acetylglucosaminyltransferase A4GNT 51146 ENSG00000118017 A4gnt (MGI:2143261) -chr3 138160987 138174920 3q22.3 3q22.3 607024 DBR1 Debranching RNA lariats 1 DBR1 51163 ENSG00000138231 {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, 619441 (3), Autosomal recessive Dbr1 (MGI:1931520) -chr3 138187247 138298388 3q22.3 3q22.3 618521 ARMC8 Armadillo repeat-containing protein 8 ARMC8 25852 ENSG00000114098 Armc8 (MGI:1921375) -chr3 138261435 138331784 3q22.3 3q22.3 618584 NME9, NXL2, TXNDC6 NME/NM23 family, member 9 NME9 347736 ENSG00000181322 Nme9 (MGI:4359686) -chr3 138347647 138405534 3q22.3 3q22.3 608435 MRAS, RRAS3, NS11 Muscle Ras viral oncogene homolog MRAS 22808 ENSG00000158186 Noonan syndrome 11, 618499 (3), Autosomal dominant Mras (MGI:1100856) -chr3 138434576 138481685 3q22.3 3q22.3 616692 ESYT3, FAM62C Extended synaptotagmin-like protein 3 ESYT3 83850 ENSG00000158220 Esyt3 (MGI:1098699) -chr3 138494338 138594317 3q22.3 3q22.3 614310 CEP70 Centrosomal protein, 70kD CEP70 80321 ENSG00000114107 Cep70 (MGI:1915371) -chr3 138608098 138633375 3q22 3q22.3 617535 FAIM Fax apoptotic inhibitory molecule FAIM 55179 ENSG00000158234 Faiml,Faim (MGI:1344387,MGI:3647754) -chr3 138652697 138834927 3q22.3 3q22.3 602925 PIK3CB, PI3KCB Phosphatidylinositol 3-kinase, catalytic, beta PIK3CB 5291 ENSG00000051382 Pik3cb (MGI:1922019) -chr3 138944223 138947136 3q23 3q22.3 605597 FOXL2, BPES, BPES1, PFRK, POF3 Forkhead transcription factor FOXL2 FOXL2 668 ENSG00000183770 Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3), Autosomal dominant, Autosomal recessive; Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3), Autosomal dominant, Autosomal recessive; Premature ovarian failure 3, 608996 (3), Autosomal dominant Foxl2 (MGI:1349428) -chr3 139000000 143100000 3q23 612221 STQTL10 Stature quantitative trait locus 10 100270794 associated with rs6440003 {Stature QTL 10}, 612221 (2) -chr3 139104184 139125166 3q23 3q23 618995 BPESC1 Blepharophimosis, ptosis, and epicanthus inversus candidate gene 1 BPESC1 60467 ENSG00000232416 -chr3 139343993 139357139 3q23 3q23 605810 MRPS22, C3orf5, COXPD5, ODG7 Mitochondrial ribosomal protein S22 MRPS22 56945 ENSG00000175110 Ovarian dysgenesis 7, 618117 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 5, 611719 (3), Autosomal recessive Mrps22 (MGI:1928137) -chr3 139355594 139389679 3q23 3q23 606990 COPB2, MCPH19 Coatomer protein complex, subunit beta-2 COPB2 9276 ENSG00000184432 mutation identified in 1 MCPH19 family ?Microcephaly 19, primary, autosomal recessive, 617800 (3), Autosomal recessive Copb2 (MGI:1354962) -chr3 139452883 139476515 3q21-qter 3q23 180280 RBP2, CRBP2 Retinol-binding protein-2, cellular RBP2 5948 ENSG00000114113 close to CRBP1 Rbp2 (MGI:97877) -chr3 139517437 139539741 3q21-q22 3q23 180260 RBP1, CRBP1 Retinol-binding protein-1, cellular RBP1 5947 ENSG00000114115 close to CRBP2 Rbp1 (MGI:97876) -chr3 139560179 139678049 3q23 3q23 608702 NMNAT3, PNAT3 Nicotinamide nucleotide adenylyltransferase 3 NMNAT3 349565 ENSG00000163864 Nmnat3 (MGI:1921330) -chr3 139935184 140577396 3q23 3q23 611323 CLSTN2 Calsyntenin 2 CLSTN2 64084 ENSG00000158258 Clstn2 (MGI:1929897) -chr3 140941835 140980994 3q23 3q23 616149 SLC25A36, PNC2 Solute carrier family 25 (mitochondrial carrier, pyrimidine nucleotide transporter), member 36 SLC25A36 55186 ENSG00000114120 Slc25a36 (MGI:1924909) -chr3 141051346 141148610 3q23 3q23 611660 SPSB4, SSB4 SPRY domain- and SOCS box-containing 4 SPSB4 92369 ENSG00000175093 Spsb4 (MGI:2183445) -chr3 141324185 141449791 3q23 3q23 612218 ZBTB38 Zinc finger- and BTB domain-containing protein 38 ZBTB38 253461 ENSG00000177311 Zbtb38 (MGI:2442866) -chr3 141487026 141615343 3q22-q23 3q23 601589 RASA2, GAP1M RAS p21 protein activator 2 RASA2 5922 ENSG00000155903 Rasa2 (MGI:2149960) -chr3 141738297 141747559 3q22-q24 3q23 603863 RNF7, ROC2, SAG RING finger protein-7 (regulator of cullins 2; sensitive to apoptosis gene) RNF7 9616 ENSG00000114125 Rnf7l,Rnf7 (MGI:3646561,MGI:1337096) -chr3 141763407 141819351 3q21-q23 3q23 606987 GRK7, GPRK7 G protein-coupled receptor kinase 7 GRK7 131890 ENSG00000114124 -chr3 141876642 141926548 3q22-q23 3q23 601867 ATP1B3 ATPase, Na+/K+ transporting, beta 3 polypeptide ATP1B3 483 ENSG00000069849 Atp1b3 (MGI:107788) -chr3 141944427 142149543 3q23 3q23 602160 TFDP2, DP2 Transcription factor Dp-2 (E2F dimerization partner 2) TFDP2 7029 ENSG00000114126 Tfdp2 (MGI:107167) -chr3 142306609 142448061 3q25-q26.1 3q23 607994 XRN1, SEP1 Exoribonuclease 1 XRN1 54464 ENSG00000114127 Xrn1 (MGI:891964) -chr3 142449234 142578792 3q22-q24 3q23 601215 ATR, FRP1, SCKL1, FCTCS ATR serine/threonine kinase ATR 545 ENSG00000175054 mutation identified in 1 FCTCS family Seckel syndrome 1, 210600 (3), Autosomal recessive; ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3), Autosomal dominant Atr (MGI:108028) -chr3 142596392 142713663 3q23 3q23 602734 PLS1, DFNA76 Plastin-1 PLS1 5357 ENSG00000120756 Deafness, autosomal dominant 76, 618787 (3), Autosomal dominant Pls1 (MGI:104809) -chr3 142724033 142807887 3q22-q24 3q23 602343 TRPC1, TRP1 Transient receptor potential channel 1 TRPC1 7220 ENSG00000144935 also called Htrp-1 Trpc1 (MGI:109528) -chr3 142817873 142889082 3q21-q24 3q23 607064 PCOLCE2 Procollagen C-endopeptidase enhancer-2 PCOLCE2 26577 ENSG00000163710 Pcolce2 (MGI:1923727) -chr3 142949163 142964007 3q23 3q23 614580 PAQR9 Progestin and ADIPOQ receptor family, member 9 PAQR9 344838 ENSG00000188582 Paqr9 (MGI:1922802) -chr3 143001569 143060724 3q23 3q23 617849 U2SURP, SR140, KIAA0332 U2 small nuclear ribonucleoprotein-associated SURP domain-containing protein U2SURP 23350 ENSG00000163714 U2surp (MGI:1915208) -chr3 143100000 183000000 3q24-q26 610761 HDLCQ5 High density lipoprotein cholesterol level QTL 5 100188818 max lod at D3S3053 [High density lipoprotein cholesterol level QTL 5], 610761 (2) -chr3 143100000 183000000 3q24-q26 606660 UVM1 Melanoma, uveal, susceptibility to, 1 170592 {Melanoma, uveal, susceptibility to, 1}, 606660 (2) -chr3 143119770 143124013 3q24 3q24 603798 CHST2 Carbohydrate sulfotransferase-2 (GlcNAc-6-O-sulfotransferase; N-acetylglucosamine-6-O-sulfotransferase) CHST2 9435 ENSG00000175040 mapped by FISH to 7q31 Chst2 (MGI:1891160) -chr3 143265221 143848491 3q24 3q24 608396 SLC9A9, AUTS16 Solute carrier family 9 (sodium/hydrogen exchanger), member A9 SLC9A9 285195 ENSG00000181804 mutation identified in 1 family {?Autism susceptibility 16}, 613410 (3) Slc9a9 (MGI:2679732) -chr3 143971797 143992367 3q24 3q24 612200 DIPK2A, C3orf58, DIA1 Divergent protein kinase domain 2A DIPK2A 205428 ENSG00000181744 Dipk2a (MGI:1916111) -chr3 146069436 146161183 3q23-q24 3q24 601865 PLOD2, LH2, TLH, BRKS2 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 PLOD2 5352 ENSG00000152952 Bruck syndrome 2, 609220 (3), Autosomal recessive Plod2 (MGI:1347007) -chr3 146192334 146251124 3q23 3q24 607612 PLSCR4 Phospholipid scramblase 4 PLSCR4 57088 ENSG00000114698 Plscr4 (MGI:2143267) -chr3 146391362 146497162 3q23 3q24 607610 PLSCR2 Phospholipid scramblase 2 PLSCR2 57047 ENSG00000163746 1700057G04Rik,Plscr2 (MGI:1925709,MGI:1270860) -chr3 146515177 146544804 3q23 3q24 604170 PLSCR1, MMTRA1B Phospholipid scramblase 1 PLSCR1 5359 ENSG00000188313 Plscr1,1700057G04Rik,Plscr2 (MGI:1925709,MGI:893575,MGI:1270860) -chr3 147386045 147407475 3q24 3q24 608948 ZIC4 Zic family, member 4 ZIC4 84107 ENSG00000174963 Zic4 (MGI:107201) -chr3 147409364 147416718 3q24 3q24 600470 ZIC1, CRS6, BAIDCS Zic family, member 1 ZIC1 7545 ENSG00000152977 mutation identified in 1 CRS6 family ?Craniosynostosis 6, 616602 (3), Autosomal dominant; Structural brain anomalies with impaired intellectual development and craniosynostosis, 618736 (3), Autosomal dominant Zic1 (MGI:106683) -chr3 148697902 148743002 3q21-q25 3q24 106165 AGTR1, AGTR1A, AT2R1 Angiotensin receptor 1 AGTR1 185 ENSG00000144891 {Hypertension, essential}, 145500 (3), Multifactorial; Renal tubular dysgenesis, 267430 (3), Autosomal recessive Agtr1a,Agtr1b (MGI:87965,MGI:87964) -chr3 148827810 148860186 3q24 3q24 114852 CPB1, PCPB, PASP Carboxypeptidase B1, tissue CPB1 1360 ENSG00000153002 Cpb1 (MGI:1923953) -chr3 148865295 148897202 3q24 3q24 114851 CPA3 Carboxypeptidase A3, mast cell CPA3 1359 ENSG00000163751 Cpa3 (MGI:88479) -chr3 148991514 149031774 3q24-q25.1 3q24 603942 GYG1, GSD15 Glycogenin 1 GYG1 2992 ENSG00000163754 mutation identified in 1 GSD15 patient ?Glycogen storage disease XV, 613507 (3), Autosomal recessive; Polyglucosan body myopathy 2, 616199 (3), Autosomal recessive Gyg (MGI:1351614) -chr3 149030062 149086533 3q25.1-q26.1 3q24 603257 SMARCA3, SNF2L3, HIP116 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 HLTF 6596 ENSG00000071794 Hltf (MGI:1196437) -chr3 149129623 149173731 3q24 3q24 606118 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 HPS3 84343 ENSG00000163755 Hermansky-Pudlak syndrome 3, 614072 (3), Autosomal recessive Hps3 (MGI:2153839) -chr3 149162409 149222007 3q23-q24 3q-q 117700 CP Ceruloplasmin CP 1356 ENSG00000047457 ~15cM from TF Cerebellar ataxia, 604290 (3), Autosomal recessive; [Hypoceruloplasminemia, hereditary], 604290 (3), Autosomal recessive; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3), Autosomal recessive Cp (MGI:88476) -chr3 149369021 149377780 3q21-q25 3q25.1 191155 TM4SF1, M3S1, TAAL6 Transmembrane-4 superfamily, member 1 TM4SF1 4071 ENSG00000169908 Tm4sf1 (MGI:104678) -chr3 149474696 149503393 3q25 3q25.1 606567 TM4SF4, ILTMP Transmembrane 4 superfamily, member 4 TM4SF4 7104 ENSG00000169903 Tm4sf4 (MGI:2385173) -chr3 149517234 149724787 3q24 3q25.1 607392 WWTR1, TAZ WW domain-containing transcription regulator 1 WWTR1 25937 ENSG00000018408 Wwtr1 (MGI:1917649) -chr3 149738471 149752488 3q25.1 3q25.1 616699 COMMD2 COMM domain-containing protein 2 COMMD2 51122 ENSG00000114744 Commd2 (MGI:1098806) -chr3 149812687 149962138 3q25.1 3q25.1 609247 RNF13, DEE73 RING finger protein 13 RNF13 11342 ENSG00000082996 Developmental and epileptic encephalopathy 73, 618379 (3), Autosomal dominant Rnf13 (MGI:1346341) -chr3 149964903 149970894 3q25.1-q25.2 3q25.1 176590 PFN2, PFL, D3S1319E Profilin-2 PFN2 5217 ENSG00000070087 mapped previously to chr.1 Pfn2 (MGI:97550) -chr3 149982268 149983307 3q25.1 3q25.1 611365 TMEM183B, C1orf37DUP Transmembrane protein 183B TMEM183BP 653659 ENSG00000224831 Tmem183a (MGI:1914729) -chr3 150408297 150466421 3q25.1 3q25.1 617724 TSC22D2, KIAA0669 TSC22 domain family, member 2 TSC22D2 9819 ENSG00000196428 Tsc22d2 (MGI:1919283) -chr3 150541997 150546495 3q25.1 3q25.1 617674 SERP1, RAMP4 Stress-associated endoplasmic reticulum protein 1 SERP1 27230 ENSG00000120742 Serp1 (MGI:92638) -chr3 150546725 150586015 3q25.1 3q25.1 609234 EIF2A Eukaryotic translation initiation factor 2A EIF2A 83939 ENSG00000144895 Eif2a (MGI:1098684) -chr3 150603320 150630435 3q24 3q25.1 607912 SELENOT, SELT Selenoprotein T SELENOT 51714 ENSG00000198843 Selenot (MGI:1916477) -chr3 150741124 150763168 3q25 3q25.1 602213 SIAH2 Seven in absentia, Drosophila, homolog of, 2 SIAH2 6478 ENSG00000181788 Siah2 (MGI:108062) -chr3 150926162 150972998 3q21-q25 3q25.1 606397 CLRN1, USH3A, USH3, RP61 Clarin 1 CLRN1 7401 ENSG00000163646 frequent in Finland; ?digenic interaction with MYO7A Usher syndrome, type 3A, 276902 (3), Autosomal recessive; Retinitis pigmentosa 61, 614180 (3) Clrn1 (MGI:2388124) -chr3 151085663 151436652 3q21-q25 3q25.1 611318 MED12L, NOPAR, KIAA1635, NIZIDS Mediator complex subunit 12-like MED12L 116931 ENSG00000144893 Nizon-Isidor syndrome, 618872 (3), Autosomal dominant Med12l (MGI:2139916) -chr3 151197753 151203673 3q25.1 3q25.1 618925 GPR171 G protein-coupled receptor 171 GPR171 29909 ENSG00000174946 Gpr171 (MGI:2442043) -chr3 151212114 151279166 3q25.1 3q25.1 610116 P2RY14, BPR105, KIAA0001 Purinergic receptor P2Y, G protein-coupled, 14 P2RY14 9934 ENSG00000174944 P2ry14 (MGI:2155705) -chr3 151294085 151316819 3q24 3q25.1 606379 GPR87 G protein-coupled receptor 87 GPR87 53836 ENSG00000138271 Gpr87 (MGI:1934133) -chr3 151326311 151329548 3q24 3q25.1 606380 P2RY13, GPR86 Purinergic receptor P2Y13 P2RY13 53829 ENSG00000181631 P2ry13 (MGI:1921441) -chr3 151336842 151384752 3q24-q25 3q25.1 600515 P2RY12, P2Y12, BDPLT8 Purinergic receptor P2Y, G protein-coupled, 12 P2RY12 64805 ENSG00000169313 Bleeding disorder, platelet-type, 8, 609821 (3), Autosomal recessive P2ry12 (MGI:1918089) -chr3 151435050 151619925 3q25.1 3q25.1 617351 IGSF10 Immunoglobulin superfamily, member 10 IGSF10 285313 ENSG00000152580 Igsf10 (MGI:1923481) -chr3 151814007 151828487 3q21.3-q25.2 3q25.1 600338 AADAC, DAC Arylacetamide deacetylase (esterase) AADAC 13 ENSG00000114771 Aadac (MGI:1915008) -chr3 151873642 151884618 3q24-q25.1 3q25.1 606381 SUCNR1, GPR91 Succinate receptor 1 SUCNR1 56670 ENSG00000198829 Sucnr1 (MGI:1934135) -chr3 152243631 152465779 3q25 3q25.1-q25.2 606516 MBNL1, KIAA0428, EXP Muscleblind-like protein MBNL1 4154 ENSG00000152601 Mbnl1 (MGI:1928482) -chr3 152835130 152841438 3q25 3q25.2 601167 P2RY1, P2Y1 Purinergic receptor P2Y, G-protein coupled, 1 P2RY1 5028 ENSG00000169860 P2ry1 (MGI:105049) -chr3 153162225 153170626 3q25.2 3q25.2 179541 RAP2B Ras-related protein 2B RAP2B 5912 ENSG00000181467 Rap2b (MGI:1921262) -chr3 154121002 154257826 3q25.2 3q25.2 617552 ARHGEF26, SGEF Rho guanine nucleotide exchange factor 26 ARHGEF26 26084 ENSG00000114790 Arhgef26 (MGI:1918053) -chr3 154272545 154324486 3q25.2 3q25.2 612767 DHX36, G4R1, RHAU, KIAA1488 DEAH-box helicase 36 DHX36 170506 ENSG00000174953 Dhx36 (MGI:1919412) -chr3 155024201 155183728 3q21-q27 3q25.2 120520 MME, CD10, CALLA, NEP, CMT2T, SCA43 Membrane metallo-endopeptidase (common acute lymphocytic leukemia antigen) MME 4311 ENSG00000196549 mutation identified in 1 SCA43 family ?Spinocerebellar ataxia 43, 617018 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3), Autosomal dominant, Autosomal recessive Mme (MGI:97004) -chr3 155290226 155293682 3q25.2 3q25.2 616891 DWORF, LOC100507537 Dwarf open reading frame STRIT1 100507537 ENSG00000240045 Strit1 (MGI:5593461) -chr3 155458602 155745723 3q25.31 3q25.31 612835 PLCH1, PLCL3, KIAA1069 Phospholipase C, eta-1 PLCH1 23007 ENSG00000114805 Plch1 (MGI:2683547) -chr3 155821023 155855357 3q25.31 3q25.31 603690 SLC33A1, ACATN, AT1, SPG42, CCHLND Solute carrier family 33 (acetyl-CoA transporter), member 1 SLC33A1 9197 ENSG00000169359 Spastic paraplegia 42, autosomal dominant, 612539 (3), Autosomal dominant; Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3), Autosomal recessive Slc33a1 (MGI:1332247) -chr3 155869429 155944019 3q24 3q25.31 600358 GMPS Guanine monophosphate synthetase GMPS 8833 ENSG00000163655 fusion gene with MLL in AML Gmps (MGI:2448526) -chr3 156118215 156542647 3q26.1 3q25.31 601141 KCNAB1, KCNA1B Potassium voltage-gated channel, shaker-related subfamily, beta member 1 KCNAB1 7881 ENSG00000169282 Kcnab1 (MGI:109155) -chr3 156539552 156555116 3q25.31 3q25.31 606213 SSR3, TRAPG Signal sequence receptor, gamma SSR3 6747 ENSG00000114850 Ssr3 (MGI:1914687) -chr3 156674589 156706769 3q25.31 3q25.31 612480 TIPARP TCDD-inducible poly(ADP-ribose) polymerase TIPARP 25976 ENSG00000163659 Tiparp (MGI:2159210) -chr3 156826286 157047658 3q25.31 3q25.31 613536 LEKR1 Leucine-, glutamate-, and lysine-rich protein 1 LEKR1 389170 ENSG00000197980 Lekr1 (MGI:3645902) -chr3 157143120 157160179 3q25.31 3q25.31 613384 CCNL1, ANIA6A Cyclin L1 CCNL1 57018 ENSG00000163660 Ccnl1 (MGI:1922664) -chr3 157259741 157503776 3q24-q25 3q25.31-q25.32 609594 VEPH1, MELT, KIAA1692 Ventricular zone-expressed PH domain-containing protein, zebrafish, homolog of, 1 VEPH1 79674 ENSG00000197415 Veph1 (MGI:1920039) -chr3 157436849 157443632 3q25 3q25.32 602492 PTX3 Pentraxin-3 PTX3 5806 ENSG00000163661 Ptx3 (MGI:104641) -chr3 158095904 158106419 3q25-q26 3q25.32 602504 SHOX2, SHOT, OG12 Short stature homeo box 2 SHOX2 6474 ENSG00000168779 Shox2 (MGI:1201673) -chr3 158110051 158545729 3q25.32 3q25.32 613352 RSRC1, SRRP53, MRT70 Arginine/serine-rich coiled-coil protein 1 RSRC1 51319 ENSG00000174891 Intellectual developmental disorder, autosomal recessive 70, 618402 (3), Autosomal recessive Rsrc1 (MGI:1914130) -chr3 158571193 158606455 3q25.32 3q25.32 601402 MLF1 Myeloid leukemia factor-1 MLF1 4291 ENSG00000178053 Mlf1 (MGI:1341819) -chr3 158644526 158695580 3q25.32 3q25.32 606639 GFM1, EFG1, GFM, COXPD1 Mitochondrial elongation factor G1 GFM1 85476 ENSG00000168827 Combined oxidative phosphorylation deficiency 1, 609060 (3), Autosomal recessive Gfm1 (MGI:107339) -chr3 158666413 158672721 3q25.3 3q25.32 609305 LXN, ECI, TCI Latexin LXN 56925 ENSG00000079257 Lxn (MGI:107633) -chr3 158696891 158732943 3q25.3 3q25.32 605090 RARRES1, TIG1 Retinoic acid receptor responder 1 RARRES1 5918 ENSG00000118849 Rarres1 (MGI:1924461) -chr3 159069318 159266306 3q25 3q25.32 611622 IQCJ IQ motif-containing protein J IQCJ 654502 ENSG00000214216 Iqcj (MGI:3644166) -chr3 159273243 159897358 3q25 3q25.32-q25.33 619206 SCHIP1 Schwannomin-interacting protein 1 SCHIP1 29970 ENSG00000151967 Schip1 (MGI:1353557) -chr3 159300000 188200000 3q25-q27 608638 ASPG1 Asperger syndrome, susceptibility to, 1 431710 max lod with D3S3037 {Asperger syndrome susceptibility 1}, 608638 (2), Multifactorial, Isolated cases -chr3 159300000 188200000 3q25-q27 607373 AUTS8 Autism, susceptibility to, 8 282553 {Autism susceptibility 8}, 607373 (2), Multifactorial, Isolated cases -chr3 159300000 161000000 3q25.3 613459 BWQTL2 Birth weight quantitative trait locus 2 100502569 associated with rs900400 [Birth weight QTL 2], 613459 (2) -chr3 159300000 183000000 3q25-q26 612008 CELIAC10 Celiac disease, susceptibility to, 10 100188872 associated with rs17810546 {Celiac disease, susceptibility to, 10}, 612008 (2) -chr3 159300000 183000000 3q25-q26 615697 ETL6 Epilepsy, familial temporal lobe, 6 103106902 between D3S1584 and D3S3520 Epilepsy, familial temporal lobe, 6, 615697 (2), Autosomal dominant -chr3 159988834 159996018 3p12-q13.2 3q25.33 161560 IL12A Interleukin-12A (natural killer cell stimulatory factor-1, cytotoxic lymphocyte maturation factor-1, p35) IL12A 3592 ENSG00000168811 Il12a (MGI:96539) -chr3 160256985 160399224 3q25.33 3q25.33 611177 IFT80, KIAA1374, WDR56, SRTD2, ATD2 Intraflagellar transport 80 IFT80 57560 ENSG00000068885 Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3), Autosomal recessive Ift80 (MGI:1915509) -chr3 160399637 160434952 3q26.1 3q25.33 605575 CAPC Chromosome-associated protein C SMC4 10051 ENSG00000113810 Smc4 (MGI:1917349) -chr3 160435502 160449785 3q26.1 3q25.33 616148 TRIM59, RNF104, MRF1, IFT80L Tripartite motif-containing protein 59 TRIM59 286827 ENSG00000213186 Trim59 (MGI:1914199) -chr3 160495006 160565570 3q26.1 3q25.33 602970 KPNA4, QIP1 Karyopherin alpha-4 KPNA4 3840 ENSG00000186432 Kpna4 (MGI:1100848) -chr3 160514906 160515235 3q25.33 3q25.33 615644 SCARNA7 Small Cajal body-specific RNA 7 SCARNA7 677767 ENSG00000238741 -chr3 160677159 160678447 3q25.33 3q25.33 614439 ARL14, ARF7 ADP ribosylation factor-like GTPase 14 ARL14 80117 ENSG00000179674 Arl14 (MGI:1918869) -chr3 160755531 161078901 3q26.1 3q25.3-q26.1 611931 PPM1L, PP2CE Protein phosphatase 1-like PPM1L 151742 ENSG00000163590 Ppm1l (MGI:2139740) -chr3 161000000 183000000 3q26.1-q26.3 606082 MNG3 Multinodular goiter-3 94337 Goiter, multinodular, 3, 606082 (2) -chr3 161083882 161105468 3q25 3q26.1 603094 B3GALT3, GLCT3, GLOB UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 3 B3GALNT1 8706 ENSG00000169255 [Blood group, P1PK system, P(k) phenotype], 111400 (3); [Blood group, globoside system], 615021 (3) B3galnt1 (MGI:1349405) -chr3 161221291 161253531 3q26.1 3q26.1 611021 NMD3 NMD3 ribosome export adaptor NMD3 51068 ENSG00000169251 Nmd3 (MGI:2140103) -chr3 161344783 161373227 3q26.1 3q26.1 610412 SPTSSB, C3orf57, SSSPTB, ADMP Serine palmitoyltransferase, small subunit B SPTSSB 165679 ENSG00000196542 Sptssb (MGI:1913433) -chr3 164978897 165078495 3q25-q26 3q26.1 609845 SI Sucrase-isomaltase SI 6476 ENSG00000090402 Sucrase-isomaltase deficiency, congenital, 222900 (3), Autosomal recessive Sis (MGI:1917233) -chr3 165186719 165197108 3q26 3q26.1 609679 SLITRK3, KIAA0848 SLIT- and NTRK-like family, member 3 SLITRK3 22865 ENSG00000121871 Slitrk3 (MGI:2679447) -chr3 165772903 165837422 3q26.1-q26.2 3q26.1 177400 BCHE, CHE1, BCHED Butyrylcholinesterase BCHE 590 ENSG00000114200 distal to CP, TF Butyrylcholinesterase deficiency, 617936 (3), Autosomal recessive; {Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3), Autosomal recessive Bche (MGI:894278) -chr3 167441932 167476962 3q26.1-q26.2 3q26.1 605587 SERPIN12, PI14, MEPI Protease inhibitor 14 SERPINI2 5276 ENSG00000114204 Serpini2 (MGI:1915181) -chr3 167683297 167735809 3q26.1 3q26.1 609118 PDCD10, TFAR15, CCM3 Programmed cell death 10 PDCD10 11235 ENSG00000114209 Cerebral cavernous malformations 3, 603285 (3), Autosomal dominant Pdcd10 (MGI:1928396) -chr3 167735720 167825568 3q26 3q26.1 602445 SERPINI1, PI12 Protease inhibitor 12 SERPINI1 5274 ENSG00000163536 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3), Autosomal dominant Serpini1 (MGI:1194506) -chr3 167900000 176000000 3q26.2-q26.31 610422 APMR2 Alopecia-mental retardation syndrome 2 100049544 between D3S1564 and D3S2427 Alopecia-mental retardation syndrome 2, 610422 (2), Autosomal recessive -chr3 167900000 183000000 3q26.2-q26.33 612637 FEB10 Febrile seizures, familial, 10 100271923 between D3S3656 and D3S1232 Febrile seizures, familial, 10, 612637 (2) -chr3 168008671 168095923 3q26.2 3q26.2 606805 GOLIM4, GOLPH4, GPP130 Golgi integral membrane protein 4 GOLIM4 27333 ENSG00000173905 Golim4 (MGI:1920374) -chr3 169083505 169663780 3q26 3q26.2 165215 MECOM, EVI1, RUSAT2 MDS1 and EVS1 complex locus MECOM 2122 ENSG00000085276 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3), Autosomal dominant Mecom (MGI:95457) -chr3 169764609 169765059 3q21-q28 3q26.2 602322 TERC, TRC3, TR, DKCA1, PFBMFT2 Telomerase RNA component TERC 7012 ENSG00000277925 {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 (3), Autosomal dominant; Dyskeratosis congenita, autosomal dominant 1, 127550 (3), Autosomal dominant; {Aplastic anemia}, 614743 (3), Autosomal dominant -chr3 169766920 169769560 3q26.2 3q26.2 608534 ARPM1 Actin-related protein M1 ACTRT3 84517 ENSG00000184378 Actrt3 (MGI:1923902) -chr3 169772229 169772301 3q26.2 3q26.2 615310 TRV-AAC1-1, TRNAV24 Transfer RNA valine (AAC) 1-1 TRV-AAC1-1 100189318 -chr3 169773395 169789715 3q26.2 3q26.2 606042 MYNN Myoneurin MYNN 55892 ENSG00000085274 Mynn (MGI:1931415) -chr3 169793002 169812903 3q26.2 3q26.2 619037 LRRC34 Leucine-rich repeat-containing protein 34 LRRC34 151827 ENSG00000171757 Lrrc34 (MGI:1919077) -chr3 169966135 169998372 3q26.2 3q26.2 602173 SEC62, TLOC1, HTP1 SEC62 homolog, preprotein translocation factor SEC62 7095 ENSG00000008952 Sec62 (MGI:1916526) -chr3 170222423 170305980 3p25-q27 3q26.2 600539 PRKCI Protein kinase C, iota PRKCI 5584 ENSG00000163558 pseudogene on X Prkci (MGI:99260) -chr3 170357677 170396848 3q26.2 3q26.2 165340 SKIL, SNO SKI-like SKIL 6498 ENSG00000136603 Skil (MGI:106203) -chr3 170418867 170434690 3q26.2-q26.3 3q26.2 601326 CLDN11, OTM, OSP, HLD22 Claudin 11 (oligodendrocyte transmembrane protein) CLDN11 5010 ENSG00000013297 Leukodystrophy, hypomyelinating, 22, 619328 (3), Autosomal dominant Cldn11 (MGI:106925) -chr3 170459547 170586074 3q26.2 3q26.2 615720 SLC7A14, KIAA1613, RP68 Solute carrier family 7, member 14 SLC7A14 57709 ENSG00000013293 Retinitis pigmentosa 68, 615725 (3), Autosomal recessive Slc7a14 (MGI:3040688) -chr3 170888417 170908636 3q25-q27 3q26.2 605782 EIF5A2 Eukaryotic translation initiation factor 5A2 EIF5A2 56648 ENSG00000163577 Eif5a2 (MGI:1933735) -chr3 170996340 171026720 3q26.1-q26.3 3q26.2 138160 SLC2A2, GLUT2 Solute carrier family 2 (facilitated glucose transporter), member 2 SLC2A2 6514 ENSG00000163581 Fanconi-Bickel syndrome, 227810 (3), Autosomal recessive; {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant Slc2a2 (MGI:1095438) -chr3 171058413 171460407 3q26.2-q26.3 3q-q 610005 TNIK, KIAA0551, MRT54 TRAF2-and NCK-interacting kinase TNIK 23043 ENSG00000154310 Mental retardation, autosomal recessive 54, 617028 (3), Autosomal recessive Tnik (MGI:1916264) -chr3 171600403 171810482 3q26 3q26.31 602382 PLD1, CVDD Phospholipase D1, phosphatidylcholine-specific PLD1 5337 ENSG00000075651 Cardiac valvular defect, developmental, 212093 (3), Autosomal recessive Pld1 (MGI:109585) -chr3 172039577 172401668 3q26 3q26.31 611909 FNDC3B, FAD104 Fibronectin domain III-containing protein 3B FNDC3B 64778 ENSG00000075420 Fndc3b (MGI:1919257) -chr3 172443290 172448455 3q26.3 3q26.31 601898 GHSR, GHDP Growth hormone secretagogue receptor GHSR 2693 ENSG00000121853 Growth hormone deficiency, isolated partial, 615925 (3), Autosomal dominant, Autosomal recessive Ghsr (MGI:2441906) -chr3 172505507 172523429 3q26 3q26.31 603598 TNFSF10, TRAIL, APO2L Tumor necrosis factor ligand superfamily, member 10 TNFSF10 8743 ENSG00000121858 Tnfsf10 (MGI:107414) -chr3 172630248 172711066 3q26.3 3q26.31 613234 NCEH1, NCEH, KIAA1363 Neutral cholesterol ester hydrolase 1 NCEH1 57552 ENSG00000144959 Nceh1 (MGI:2443191) -chr3 172750693 172829272 3q26.1-q26.2 3q26.31 600586 ECT2 Epithelial cell transforming sequence 2 oncogene ECT2 1894 ENSG00000114346 Ect2 (MGI:95281) -chr3 172889356 173141234 3q26.3 3q26.31 609856 SPATA16, SPGF6 Spermatogenesis-associated protein 16 SPATA16 83893 ENSG00000144962 mutation identified in 1 SPGF6 family ?Spermatogenic failure 6, 102530 (3), Autosomal recessive Spata16 (MGI:1918112) -chr3 173395928 174294371 3q26.3 3q26.31 600568 NLGN1 Neuroligin 1 NLGN1 22871 ENSG00000169760 {Autism, susceptibility to, 20}, 618830 (3), Autosomal dominant Nlgn1 (MGI:2179435) -chr3 174438533 175810547 3q26.3 3q26.31 608806 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 NAALADL2 254827 ENSG00000177694 ?involved in Cornelia de Lange syndrome Naaladl2 (MGI:2685867) -chr3 177019343 177197481 3q26.32 3q26.32 608628 TBL1XR1, TBLR1, IRA1, C21, MRD41 Transducin-beta-like 1 receptor 1 TBL1XR1 79718 ENSG00000177565 Pierpont syndrome, 602342 (3), Autosomal dominant; Mental retardation, autosomal dominant 41, 616944 (3), Autosomal dominant Tbl1xr1 (MGI:2441730) -chr3 178536393 178844428 3q26.32 3q26.32 605214 KCNMB2 Potassium channel, calcium-activated, large conductance, subfamily M, beta member 2 KCNMB2 10242 ENSG00000197584 Kcnmb2 (MGI:1919663) -chr3 179017222 179072512 3q26.3-q27 3q26.32 606452 WIG1 Wildtype p53-induced gene ZMAT3 64393 ENSG00000172667 Zmat3 (MGI:1195270) -chr3 179148113 179240092 3q26.3 3q26.32 171834 PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide PIK3CA 5290 ENSG00000121879 CLOVE syndrome, somatic, 612918 (3); Hepatocellular carcinoma, somatic, 114550 (3); Breast cancer, somatic, 114480 (3); Ovarian cancer, somatic, 167000 (3); Colorectal cancer, somatic, 114500 (3); Macrodactyly, somatic, 155500 (3); CLAPO syndrome, somatic, 613089 (3); Keratosis, seborrheic, somatic, 182000 (3); Nevus, epidermal, somatic, 162900 (3); Gastric cancer, somatic, 613659 (3); Nonsmall cell lung cancer, somatic, 211980 (3); Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3); Cowden syndrome 5, 615108 (3) Pik3ca (MGI:1206581) -chr3 179239702 179267049 3q26.3-q27.1 3q26.32 605222 KCNMB3 Potassium large conductance calcium-activated channel, subfamily M, beta member 3 KCNMB3 27094 ENSG00000171121 Kcnmb3 (MGI:3612244) -chr3 179300000 183000000 3q26 109200 AGA1, MPB Alopecia, androgenetic, 1 100188784 Alopecia, androgenetic, 1, 109200 (2), Autosomal dominant -chr3 179300000 188200000 3q26.3-q27.3 203650 APMR1 Alopecia-mental retardation syndrome 1 max lod at D3S3583 Alopecia-mental retardation syndrome 1, 203650 (2), Autosomal recessive -chr3 179300000 183000000 3q26 600049 MDS1 Myelodysplasia syndrome-1 cen--EVI1--MDS1--EAP--tel Myelodysplasia syndrome-1 (3) -chr3 179300000 183000000 3q26 609257 MYP8 Myopia 8 553192 Myopia 8, 609257 (2), Multifactorial -chr3 179322875 179338582 3q26.3 3q26.33 619214 ZNF639, ZASC1 Zinc finger protein 639 ZNF639 51193 ENSG00000121864 Zfp639 (MGI:1915028) -chr3 179347708 179394935 3q26.33 3q26.33 608506 MFN1 Mitofusin 1 MFN1 55669 ENSG00000171109 Mfn1 (MGI:1914664) -chr3 179396087 179451469 3q26.3 3q26.33 610863 GNB4, CMTD1F Guanine nucleotide-binding protein, beta-4 GNB4 59345 ENSG00000114450 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3), Autosomal dominant Gnb4 (MGI:104581) -chr3 179562925 179588406 3q26.3 3q26.33 604958 ACTL6A, BAF53, BAF53A Actin-like 6A ACTL6A 86 ENSG00000136518 Actl6a (MGI:1861453) -chr3 179588284 179604645 3q26.3 3q26.33 611852 MRPL47 Mitochondrial ribosomal protein L47 MRPL47 57129 ENSG00000136522 Mrpl47 (MGI:1921850) -chr3 179604793 179627646 3q26.33 3q26.33 603841 NDUFB5 NADH-ubiquinone oxidoreductase subunit B5 NDUFB5 4711 ENSG00000136521 Ndufb5 (MGI:1913296) -chr3 179653039 179789400 3q26.2-q26.3 3q26.33 603591 USP13, ISOT3 Ubiquitin-specific protease-13 USP13 8975 ENSG00000058056 Usp13 (MGI:1919857) -chr3 179794957 180037008 3q26.2-q27 3q26.33 611058 PEX5L, PEX5R, PXR2B Peroxisome biogenesis factor 5-like PEX5L 51555 ENSG00000114757 Pex5l (MGI:1916672) -chr3 180614007 180679488 3q26.33 3q26.33 613798 CCDC39 Coiled-coil domain-containing protein 39 CCDC39 339829 ENSG00000284862 Ciliary dyskinesia, primary, 14, 613807 (3), Autosomal recessive Ccdc39 (MGI:1289263) -chr3 180912669 180982752 3q28 3q26.33 600819 FXR1, MYORIBF, MYOPMIL FMR1 autosomal homolog 1 FXR1 8087 ENSG00000114416 mutation identified in 1 MYORIBF family and 1 MYOPMIL family ?Myopathy, congenital, with respiratory insufficiency and bone fractures, 618822 (3), Autosomal recessive; ?Myopathy, congenital proximal, with minicore lesions, 618823 (3), Autosomal recessive Fxr1 (MGI:104860) -chr3 180983708 180989837 3q26.3 3q26.33 608977 DNAJC19, TIM14 DnaJ (Hsp40) homolog, subfamily C, member 19 (translocase of inner mitochondrial membrane 14, yeast, homolog of) DNAJC19 131118 ENSG00000205981 3-methylglutaconic aciduria, type V, 610198 (3), Autosomal recessive Dnajc19-ps,Dnajc19 (MGI:1914963,MGI:3709029) -chr3 181056679 181742227 3q26.33 3q26.33 616338 SOX2OT, NCRNA00043 SOX2 overlapping transcript, noncoding SOX2-OT 347689 ENSG00000242808 Sox2ot (MGI:2444112) -chr3 181711924 181714435 3q26.3-q27 3q26.33 184429 SOX2, MCOPS3 SRY (sex determining region Y)-box 2 SOX2 6657 ENSG00000181449 Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3), Autosomal dominant; Microphthalmia, syndromic 3, 206900 (3), Autosomal dominant Sox2 (MGI:98364) -chr3 182793503 182923009 3q27 3q26.33 605869 ATP11B, ATPIR ATPase, class VI, type 11B ATP11B 23200 ENSG00000058063 Atp11b (MGI:1923545) -chr3 182938073 182986363 3q26.3 3q26.33 605905 DCUN1D1, RP42 DCN1 domain-containing protein 1 DCUN1D1 54165 ENSG00000043093 previously mapped to 6q16 Dcun1d1 (MGI:2150386) -chr3 183015217 183099586 3q25-q27 3q27.1 609010 MCCC1, MCCA 3-Methylcrotonyl-CoA carboxylase 1 MCCC1 56922 ENSG00000078070 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3), Autosomal recessive Mccc1 (MGI:1919289) -chr3 183122214 183162760 3q26.3-q27 3q27.1 605883 DCLAMP Lysosome-associated membrane glycoprotein, dendritic cell-specific LAMP3 27074 ENSG00000078081 Lamp3 (MGI:2441659) -chr3 183253206 183273390 3q27.1 3q27.1 615333 B3GNT5 Beta-1,3-N-acetylglucosaminyltransferase 5 B3GNT5 84002 ENSG00000176597 B3gnt5 (MGI:2137302) -chr3 183487550 183555710 3q27.3 3q27.1 614214 KLHL6, FLJ00029 Kelch-like 6 KLHL6 89857 ENSG00000172578 Klhl6 (MGI:2686922) -chr3 183635618 183684518 3q27.1 3q27.1 611295 KLHL24, KRIP6, EBSSH Kelch-like 24 KLHL24 54800 ENSG00000114796 Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3), Autosomal dominant Klhl24 (MGI:1923035) -chr3 183697796 183812624 3q27.1 3q27.1 613373 YEATS2, KIAA1197, FAME4 YEATS domain-containing protein 2 YEATS2 55689 ENSG00000163872 mutation identifed in 1 FAME4 family ?Epilepsy, myoclonic, familial adult, 4, 615127 (3), Autosomal dominant Yeats2 (MGI:2447762) -chr3 183815883 183825601 3q27 3q27.1 610593 MAPO6D1, SL21 MAP6 domain-containing protein 1 MAP6D1 79929 ENSG00000180834 Map6d1 (MGI:3607784) -chr3 183826487 183884900 3q27 3q27.1 607858 PARL Presenilin-associated rhomboid-like protein PARL 55486 ENSG00000175193 Parl (MGI:1277152) -chr3 183919933 184018009 3q27 3q27.1 605251 ABCC5, MRP5, MOATC ATP-binding cassette, subfamily C, member 5 ABCC5 10057 ENSG00000114770 Abcc5 (MGI:1351644) -chr3 184031543 184039368 3q27 3q27.1 610122 HTR3D 5-hydroxytryptamine receptor 3, subunit D HTR3D 200909 ENSG00000186090 -chr3 184053046 184060672 3q27 3q27.1 610121 HTR3C 5-hydroxytryptamine receptor 3C HTR3C 170572 ENSG00000178084 -chr3 184097063 184106994 3q27 3q27.1 610123 HTR3E 5-hydroxytryptamine receptor 3, subunit E HTR3E 285242 ENSG00000186038 -chr3 184135022 184145310 3q27 3q27.1 603945 EIF2B5, LVWM, CACH, CLE Eukaryotic translation initiation factor 2B, subunit 5 EIF2B5 8893 ENSG00000145191 Ovarioleukodystrophy, 603896 (3), Autosomal recessive; Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive Eif2b5 (MGI:2446176) -chr3 184155376 184173613 3q27 3q27.1 601368 DVL3, DRS3 Dishevelled 3 (homologous to Drosophila dsh) DVL3 1857 ENSG00000161202 Robinow syndrome, autosomal dominant 3, 616894 (3), Autosomal dominant Dvl3 (MGI:108100) -chr3 184174854 184184090 3q28 3q27.1 601024 AP2M1, CLAPM1, MRD60 Adaptor-related protein complex 2, mu 1 subunit AP2M1 1173 ENSG00000161203 Intellectual developmental disorder 60 with seizures, 618587 (3), Autosomal dominant Ap2m1 (MGI:1298405) -chr3 184186159 184194011 3q27.1 3q27.1 618967 ABCF3 ATP-binding cassette, subfamily F, member 3 ABCF3 55324 ENSG00000161204 Abcf3 (MGI:1351656) -chr3 184241404 184241488 3q27.1 3q27.1 611620 MIR1224, MIRN1224 Micro RNA 1224 MIR1224 100187716 ENSG00000221120 Mir1224 (MGI:3764925) -chr3 184242300 184258300 3q27 3q27.1 608750 ALG3, NOT56L, CDGS4, CDG1D ALG3 alpha-1,3-mannosyltransferase ALG3 10195 ENSG00000214160 Congenital disorder of glycosylation, type Id, 601110 (3), Autosomal recessive Alg3 (MGI:1098592) -chr3 184259212 184261552 3q27.1 3q27.1 608721 CAMK2N2, CAMKIIN Calcium/calmodulin-dependent protein kinase II inhibitor 2 CAMK2N2 94032 ENSG00000163888 Camk2n2 (MGI:1920297) -chr3 184276021 184293030 3q27.1 3q27.1 610145 ECE2, KIAA0604 Endothelin-converting enzyme 2 ECE2 9718 ENSG00000145194 Ece2 (MGI:1101356) -chr3 184299240 184309049 3q27.1 3q27.1 606223 PSMD2, S2, TRAP2 Proteasome 26S subunit, non-APTase, 2 PSMD2 5708 ENSG00000175166 Psmd2 (MGI:1096584) -chr3 184314605 184335357 3q27 3q27.1 600495 EIF4G1, EIF4G, PARK18 Eukaryotic translation initiation factor 4 gamma, 1 EIF4G1 1981 ENSG00000114867 amplified in squamous cell lung cancer {Parkinson disease 18}, 614251 (3), Autosomal dominant Eif4g1 (MGI:2384784) -chr3 184346184 184361604 3q26 3q27.1 600570 CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT, HALD2 Chloride channel-2 CLCN2 1181 ENSG00000114859 Leukoencephalopathy with ataxia, 615651 (3), Autosomal recessive; Hyperaldosteronism, familial, type II, 605635 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3), Autosomal dominant; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3), Autosomal dominant Clcn2 (MGI:105061) -chr3 184361709 184368593 3q28 3q27.1 606023 POLR2H, RPB8 Polymerase II, RNA, subunit H POLR2H 5437 ENSG00000163882 Polr2h (MGI:2384309) -chr3 184371934 184379687 3q26.3-q27 3q27.1 600044 THPO, MGDF, MPLLG, TPO, THCYT1 Thrombopoietin (megakaryocyte growth and development factor) THPO 7066 ENSG00000090534 Thrombocythemia 1, 187950 (3), Autosomal dominant Thpo (MGI:101875) -chr3 184380053 184390738 3q27 3q27.1 603475 CHRD Chordin CHRD 8646 ENSG00000090539 near THPO, CLCN2, EIF4G1 Chrd (MGI:1313268) -chr3 184561784 184582407 3q21-qter 3q27.1 601839 EPHB3, ETK2 EPH-like tyrosine kinase-2 EPHB3 2049 ENSG00000182580 Ephb3 (MGI:104770) -chr3 184710363 184712063 3q13 3q27.1 609267 MAGEF1 Melanoma antigen, family F, 1 MAGEF1 64110 ENSG00000177383 -chr3 184812142 185052613 3q27.2 3q27.2 618366 VPS8 VPS8, corvet complex subunit VPS8 23355 ENSG00000156931 Vps8 (MGI:2146407) -chr3 185190623 185254048 3q27 3q27.2 607037 EHHADH, PBFE, LBFP, FRTS3 Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase EHHADH 1962 ENSG00000113790 mutation identified in 1 family ?Fanconi renotubular syndrome 3, 615605 (3), Autosomal dominant Ehhadh,Tuba8 (MGI:1858225,MGI:1277964) -chr3 185282937 185489093 3q27 3q27.2 604915 MAP3K13, LZK Mitogen-activated protein kinase kinase kinase 13 (leucine zipper-bearing kinase) MAP3K13 9175 ENSG00000073803 Map3k13 (MGI:2444243) -chr3 185506261 185552660 3q27-q28 3q27.2 607365 LIPH, LAH2, ARWH2, HYPT7 Lipase H LIPH 200879 ENSG00000163898 Hypotrichosis 7, 604379 (3), Autosomal recessive; Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3), Autosomal recessive Liph (MGI:2388029) -chr3 185586294 185633550 3q27 3q27.2 608261 SENP2, SMT3IP2, AXAM2, KIAA1331 Sentrin-specific protease family, member 2 SENP2 59343 ENSG00000163904 Semp2l1,Semp2l2b,Semp2l2a,Senp2 (MGI:2149738,MGI:1923076,MGI:2667157,MGI:3644687) -chr3 185643129 185825045 3q28 3q27.2 608289 IGF2BP2, IMP2 Insulin-like growth factor 2 mRNA-binding protein 2 IGF2BP2 10644 ENSG00000073792 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant Igf2bp2 (MGI:1890358) -chr3 185914557 185938026 3q26.2-q27 3q27.2 602719 TRA2B, SFRS10 Transformer 2 beta homolog TRA2B 6434 ENSG00000136527 Tra2b (MGI:106016) -chr3 186046313 186109088 3q28 3q27.2 601600 ETV5, ERM ETS variant transcription factor 5 ETV5 2119 ENSG00000244405 Etv5 (MGI:1096867) -chr3 186147200 186362233 3q27-q28 3q27.2-q27.3 601854 DGKG, DAGK3 Diacylglycerol kinase, gamma, 90-kD DGKG 1608 ENSG00000058866 Dgkg (MGI:105060) -chr3 186300000 188200000 3q27 605552 AOMS1, SYNX Abdominal obesity-metabolic syndrome QTL1 65076 epistatic gene on 17p12 Abdominal obesity-metabolic syndrome 1, 605552 (2), Autosomal dominant -chr3 186300000 192600000 3q27-q28 605229 SPG14 Spastic paraplegia 14, autosomal recessive 57309 Spastic paraplegia 14, autosomal recessive, 605229 (2), Autosomal recessive -chr3 186538442 186544379 3q27 3q27.3 123730 CRYGS, CRYG8, CTRCT20 Crystallin, gamma S CRYGS 1427 ENSG00000213139 Cataract 20, multiple types, 116100 (3), Autosomal dominant Crygs (MGI:1298216) -chr3 186570719 186585792 3q27.3 3q27.3 611341 DNAJB11, HEDJ, DJ9, ABBP2, PKD6 DNAJ/HSP40 homolog, subfamily B, member 11 DNAJB11 51726 ENSG00000090520 Polycystic kidney disease 6 with or without polycystic liver disease, 618061 (3), Autosomal dominant Dnajb11 (MGI:1915088) -chr3 186613059 186621317 3q27 3q27.3 138680 AHSG, APMR1 Alpha-2HS-glycoprotein AHSG 197 ENSG00000145192 mutation identified in 1 APMR1 family ?Alopecia-mental retardation syndrome 1, 203650 (3), Autosomal recessive Ahsg (MGI:107189) -chr3 186635968 186653140 3q27 3q27.3 605954 FETUB Fetuin B FETUB 26998 ENSG00000090512 Fetub (MGI:1890221) -chr3 186665974 186678234 3q27 3q27.3 142640 HRG, THPH11 Histidine-rich glycoprotein HRG 3273 ENSG00000113905 Thrombophilia due to HRG deficiency, 613116 (3), Autosomal dominant Hrg (MGI:2146636) -chr3 186717358 186744409 3q27 3q27.3 612358 KNG1, KNG, HAE6 Kininogen 1 KNG1 3827 ENSG00000113889 [Kininogen deficiency], 228960 (3), Autosomal recessive; Angioedema, hereditary, 6, 619363 (3), Autosomal dominant; [High molecular weight kininogen deficiency], 228960 (3), Autosomal recessive Kng2,Kng1 (MGI:1097705,MGI:3027157) -chr3 186783576 186789896 3q28 3q27.3 601102 EIF4A2 Eukaryotic translation initiation factor-4A, isoform 2 EIF4A2 1974 ENSG00000156976 previously 18p11.2 by FISH Eif4a2 (MGI:106906) -chr3 186786674 186786851 3q27.3 3q27.3 611334 SNORA81 Small nucleolar RNA, H/ACA box, 81 SNORA81 677847 ENSG00000221420 in intron 3 of EIF2A -chr3 186787298 186787432 3q27.3 3q27.3 180647 SNORA63, RNU107, RNE3 Small nucleolar RNA, H/ACA box, 63 SNORA63 6043 ENSG00000200320 -chr3 186789899 186806481 3q27 3q27.3 102577 RFC4 Replication factor C4, 37kD (activator 1, 37kD) RFC4 5984 ENSG00000163918 Rfc4 (MGI:2146571) -chr3 186842709 186858462 3q27 3q27.3 605441 ADIPOQ, APM1, GBP28, ADIPQTL1 Adipocyte-, C1q-, and collagen domain-containing ADIPOQ 9370 ENSG00000181092 Adiponectin deficiency, 612556 (3) Adipoq (MGI:106675) -chr3 186930525 187078552 3q21-q28 3q27.3 109675 SIAT1 Sialyltransferase-1 (beta-galactoside alpha-2,6-sialyltransferase) ST6GAL1 6480 ENSG00000073849 St6gal1 (MGI:108470) -chr3 187120947 187139495 3q27 3q27.3 607547 RPL39L Ribosomal protein L39-like RPL39L 116832 ENSG00000163923 Rpl39l (MGI:1915422) -chr3 187197485 187201461 3q27.3 3q27.3 609137 RTP1 Receptor-transporting protein 1 RTP1 132112 ENSG00000175077 Rtp1 (MGI:2685450) -chr3 187217281 187293528 3q27-q28 3q27.3 600521 MASP1, CRARF, 3MC1 Mannan-binding lectin serine protease-1 (C4/C2 activating component of Ra-reactive factor) MASP1 5648 ENSG00000127241 3MC syndrome 1, 257920 (3), Autosomal recessive Masp1 (MGI:88492) -chr3 187368384 187372075 3q27 3q27.3 609350 RTP4 Receptor-transporting protein 4 RTP4 64108 ENSG00000136514 Rtp4 (MGI:1915025) -chr3 187668911 187670393 3q28 3q27.3 182450 SST Somatostatin SST 6750 ENSG00000157005 Sst (MGI:98326) -chr3 187698258 187715624 3q27.3 3q27.3 609138 RTP2 Receptor-transporting protein 2 RTP2 344892 ENSG00000198471 Rtp2 (MGI:2685451) -chr3 187721376 187745471 3q27 3q27.3 109565 BCL6 BCL6 transcription repressor BCL6 604 ENSG00000113916 Bcl6 (MGI:107187) -chr3 188152151 188890670 3q28 3q27-q28 600700 LPP Lipoma-preferred-partner gene LPP 4026 ENSG00000145012 fused with HMGIC in lipoma; fused with MLL in leukemia Lipoma (3); Leukemia, acute myeloid, 601626 (3), Somatic mutation, Autosomal dominant Lpp (MGI:2441849) -chr3 188200000 192600000 3q28 612009 CELIAC11 Celiac disease, susceptibility to, 11 100188873 associated with rs1464510 {Celiac disease, susceptibility to, 11}, 612009 (2) -chr3 188200000 192600000 3q28 614210 LNCR5 Lung cancer susceptibility 5 100682395 associated with rs4488809 {Lung cancer susceptibility 5}, 614210 (2) -chr3 188688780 188688865 3q28 3q28 612154 MIR28, MIRN28 Micro RNA 28 MIR28 407020 ENSG00000207651 Mir28a (MGI:3619267) -chr3 189596745 189897275 3q27 3q28 603273 TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 Tumor protein p63 (tumor protein p73-like) TP63 8626 ENSG00000073282 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3), Autosomal dominant; Hay-Wells syndrome, 106260 (3), Autosomal dominant; Split-hand/foot malformation 4, 605289 (3), Autosomal dominant; Orofacial cleft 8, 618149 (3); Rapp-Hodgkin syndrome, 129400 (3), Autosomal dominant; ADULT syndrome, 103285 (3), Autosomal dominant; Limb-mammary syndrome, 603543 (3), Autosomal dominant Trp63 (MGI:1330810) -chr3 189956727 190122277 3q29 3q28 610341 P3H2, LEPREL1, MCVD Prolyl 3-hydroxylase 2 P3H2 55214 ENSG00000090530 Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3), Autosomal recessive P3h2 (MGI:2146663) -chr3 190290360 190412137 3q27 3q28 603959 CLDN16, PCLN1, HOMG3 Claudin 16 (paracellin 1) CLDN16 10686 ENSG00000113946 Hypomagnesemia 3, renal, 248250 (3), Autosomal recessive Cldn16 (MGI:2148742) -chr3 190305706 190322445 3q28-q29 3q28 603718 CLDN1, SEMP1, ILVASC Claudin 1 CLDN1 9076 ENSG00000163347 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3), Autosomal recessive Cldn1 (MGI:1276109) -chr3 190428654 190449900 3q28 3q28 614786 TMEM207 Transmembrane protein 207 TMEM207 131920 ENSG00000198398 Tmem207 (MGI:2685386) -chr3 190514084 190659749 3q28 3q28 602626 IL1RAP Interleukin 1 receptor accessory protein IL1RAP 3556 ENSG00000196083 Il1rap (MGI:104975) -chr3 190843270 190864199 3q28 3q28 614448 GMNC, GEMC1 Geminin coiled-coil domain-containing protein GMNC 647309 ENSG00000205835 Gmnc (MGI:2685452) -chr3 191199240 191265614 3q26 3q28 610280 OSTN Osteocrin OSTN 344901 ENSG00000188729 Ostn (MGI:2677164) -chr3 191266464 191330525 3q28 3q28 618134 UTS2B, URP Urotensin 2B UTS2B 257313 ENSG00000188958 Uts2b (MGI:2677064) -chr3 191329081 191398658 3q28 3q28 611051 CCDC50, C3orf6, DFNA44 Coiled-coil domain-containing protein 50 CCDC50 152137 ENSG00000152492 mutation identified in 1 DFNA44 family ?Deafness, autosomal dominant 44, 607453 (3), Autosomal dominant Ccdc50 (MGI:1914751) -chr3 191461162 191461455 3q28 3q28 615701 PYDC2, POP2 Pyrin domain-containing protein 2 PYDC2 152138 ENSG00000253548 -chr3 192139389 192727540 3q28 3q28-q29 601513 FGF12, FHF1, DEE47 Fibroblast growth factor-12 FGF12 2257 ENSG00000114279 Developmental and epileptic encephalopathy 47, 617166 (3), Autosomal dominant Fgf12 (MGI:109183) -chr3 192600000 198295559 3q29 609425 DEL3q29, MICRODEL3q29 Chromosome 3q29 microdeletion syndrome contiguous gene deletion syndrome Chromosome 3q29 microdeletion syndrome, 609425 (4), Isolated cases -chr3 192600000 198295559 3q29 611936 DUP3q29, MICRODUP3q29 Chromosome 3q29 microduplication syndrome contiguous gene duplication syndrome Chromosome 3q29 microduplication syndrome, 611936 (4), Autosomal dominant -chr3 193241127 193281638 3q29 3q29 606487 PLAAT1, HRASLS Phospholipase A and acetyltransferase 1 PLAAT1 57110 ENSG00000127252 Plaat1 (MGI:1351473) -chr3 193274788 193378819 3q29 3q29 619119 ATP13A5 ATPase 13A5 ATP13A5 344905 ENSG00000187527 Atp13a5 (MGI:2444068) -chr3 193398966 193593113 3q29 3q29 609556 ATP13A4 ATPase 13A4 ATP13A4 84239 ENSG00000127249 Atp13a4 (MGI:1924456) -chr3 193593148 193697810 3q28-q29 3q29 605290 OPA1, NTG, NPG, BERHS, MTDPS14 OPA1 mitochondrial dynamin-like GTPase OPA1 4976 ENSG00000198836 mutation identified in 1 MTDPS14 family Optic atrophy plus syndrome, 125250 (3), Autosomal dominant; {Glaucoma, normal tension, susceptibility to}, 606657 (3); Optic atrophy 1, 165500 (3), Autosomal dominant; Behr syndrome, 210000 (3), Autosomal recessive; ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3), Autosomal recessive Opa1 (MGI:1921393) -chr3 194136147 194138731 3q28-q29 3q29 139605 HES1, HRY Hes family bHLH transcription factor 1 HES1 3280 ENSG00000114315 Hes1 (MGI:104853) -chr3 194339764 194351386 3q29 3q29 603104 CPN2 Carboxypeptidase N, polypeptide 2, 83-KD CPN2 1370 ENSG00000178772 conflicting assignment to chr.8 Cpn2 (MGI:1919006) -chr3 194355248 194369742 3q29 3q29 619327 LRRC15, LIB Leucine-rich repeat-containing protein 15 LRRC15 131578 ENSG00000172061 Lrrc15 (MGI:1921738) -chr3 194394820 194399265 3q29 3q29 173511 GP5 Glycoprotein V, platelet GP5 2814 ENSG00000178732 Gp5 (MGI:1096363) -chr3 194402673 194487005 3q26.32 3q29 610232 ATP13A3, AFURS1 ATPase 13A3 ATP13A3 79572 ENSG00000133657 Atp13a3 (MGI:2685387) -chr3 194640787 194672190 3q29 3q29 610780 LSG1 Large 60S subunit nuclear export GTPase 1 LSG1 55341 ENSG00000041802 Lsg1 (MGI:107236) -chr3 195066969 195271158 3q29 3q29 614552 XXYLT1, C3orf21 Xyloside xylosyltransferase 1 XXYLT1 152002 ENSG00000173950 Xxylt1 (MGI:2146443) -chr3 195274741 195443175 3q29 3q29 607766 CENTB2, KIAA0041, ACAP2 Centaurin, beta-2 ACAP2 23527 ENSG00000114331 Acap2 (MGI:1925868) -chr3 195514427 195543347 3q29 3q29 601792 PPP1R2, IPP2 Protein phosphatase-1, regulatory (inhibitor) subunit 2 PPP1R2 5504 ENSG00000184203 pseudogenes on chr. 5 and 6 Ppp1r2 (MGI:1914099) -chr3 195568704 195583939 3q26.2-qter 3q29 107740 APOD Apolipoprotein D APOD 347 ENSG00000189058 Apod (MGI:88056) -chr3 195699400 195699496 3q29 3q29 614538 MIR570 Micro RNA 570 MIR570 693155 ENSG00000207650 -chr3 195720977 195733550 3q29 3q29 610360 MUC20 Mucin 20, cell surface-associated MUC20 200958 ENSG00000176945 Muc20 (MGI:2385039) -chr3 195746770 195811928 3q29 3q29 158372 MUC4 Mucin 4, tracheobronchial MUC4 4585 ENSG00000145113 Muc4 (MGI:2153525) -chr3 195863363 195908550 3q29 3q29 606994 TNK2, ACK, ACK1 Tyrosine kinase, non-receptor, 2 TNK2 10188 ENSG00000061938 Tnk2 (MGI:1858308) -chr3 196018693 196082122 3q29 3q29 190010 TFRC, TFR, CD71, IMD46 Transferrin receptor TFRC 7037 ENSG00000072274 Immunodeficiency 46, 616740 (3), Autosomal recessive Tfrc (MGI:98822) -chr3 196197442 196211436 3q29 3q29 618671 DHHC19 Zinc finger DHHC domain-containing palmitoyltransferase 19 ZDHHC19 131540 ENSG00000163958 Zdhhc19 (MGI:2682948) -chr3 196216533 196233426 3q29 3q29 612084 SLC51A, OSTA, PFIC6 Solute carrier family 51, alpha subunit (organic solute transporter, alpha) SLC51A 200931 ENSG00000163959 mutation identified in 1 PFIC6 patient ?Cholestasis, progressive familial intrahepatic, 6, 619484 (3) Slc51a (MGI:2146634) -chr3 196234367 196287725 3q29 3q29 123695 PCYT1A, CTPCT, PCYT1, SMDCRD Phosphate cytidylyltransferase 1, choline, alpha isoform PCYT1A 5130 ENSG00000161217 Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3), Autosomal recessive Pcyt1a (MGI:88557) -chr3 196291218 196318239 3q29 3q29 617353 TCTEX1D2, SRTD17 TCTEX1 domain-containing protein 2 DYNLT2B 255758 ENSG00000213123 Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 (3), Autosomal recessive Dynlt2b (MGI:1913311) -chr3 196347658 196454322 3q29 3q29 616379 UBXN7, KIAA0794 UBX domain protein 7 UBXN7 26043 ENSG00000163960 Ubxn7 (MGI:2146388) -chr3 196468782 196503767 3q29 3q29 612688 RNF168, RIDL RING finger protein 168 RNF168 165918 ENSG00000163961 RIDDLE syndrome, 611943 (3), Autosomal recessive Rnf168 (MGI:1917488) -chr3 196554176 196568607 3q29 3q29 615110 WDR53 WD repeat-containing protein 53 WDR53 348793 ENSG00000185798 Wdr53 (MGI:1916230) -chr3 196568659 196589058 3q29 3q29 609112 FBXO45, FBX45 F-box only protein 45 FBXO45 200933 ENSG00000174013 Fbxo45 (MGI:2447775) -chr3 196639693 196662003 3q29 3q29 615322 NRROS, LRRC33, SENEBAC Negative regulator of oxygen species NRROS 375387 ENSG00000174004 Seizures, early-onset, with neurodegeneration and brain calcification, 618875 (3), Autosomal recessive Nrros (MGI:2445095) -chr3 196706276 196712249 3q29 3q29 615586 CEP19, C3orf34, MOSPGF Centrosomal protein, 19kD CEP19 84984 ENSG00000174007 mutation identified in 1 family Morbid obesity and spermatogenic failure, 615703 (3), Autosomal recessive Cep19 (MGI:1914244) -chr3 196712376 196736006 3q29 3q29 610276 PIGX Phosphatidylinositol glycan, class X PIGX 54965 ENSG00000163964 Pigx (MGI:1919334) -chr3 196739856 196832646 3q29 3q29 605022 PAK2, PAK65 p21-activated kinase 2 PAK2 5062 ENSG00000180370 deleted in 3q29 microdeletion syndrome Pak2 (MGI:1339984) -chr3 196867896 196934713 3q29 3q29 612845 SENP5 Sentrin-specific protease family, member 5 SENP5 205564 ENSG00000119231 Senp5 (MGI:2443596) -chr3 196932728 196942527 3q29 3q29 605133 NCBP2, CBP20, NIP1 Nuclear CAP-binding protein 2 NCBP2 22916 ENSG00000114503 Ncbp2 (MGI:1915342) -chr3 196946355 196969410 3q29 3q29 611671 PIGZ, SMP3 Phosphatidylinositol glycan, class Z PIGZ 80235 ENSG00000119227 Pigz (MGI:2443822) -chr3 197001739 197029816 3q29 3q29 155750 MFI2, MAP97 Melanoma-associated antigen p97 MELTF 4241 ENSG00000163975 Meltf (MGI:1353421) -chr3 197042559 197299320 3q29 3q29 601014 DLG1 Discs large MAGUK scaffold protein 1 DLG1 1739 ENSG00000075711 deleted in 3q29 microdeletion syndrome Dlg1 (MGI:107231) -chr3 197509782 197573342 3q29 3q29 603063 BDH1, BDH 3-hydroxybutyrate dehydrogenase 1 BDH1 622 ENSG00000161267 Bdh1 (MGI:1919161) -chr3 197668866 197749819 3q29 3q29 613516 RUBCN, RUBICON, KIAA0226, SCAR15 RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein RUBCN 9711 ENSG00000145016 Spinocerebellar ataxia, autosomal recessive 15, 615705 (3), Autosomal recessive Rubcn (MGI:1915160) -chr3 197749532 197787595 3q29 3q29 616933 FYTTD1, UIF Forty-two-three domain-containing protein 1 FYTTD1 84248 ENSG00000122068 Fyttd1 (MGI:1917955) -chr3 197889076 197960110 3q29 3q29 612477 IQCG IQ motif-containing protein G IQCG 84223 ENSG00000114473 Iqcg (MGI:1916957) -chr3 197950189 197956609 3q29-qter 3q29 180468 RPL35A, DBA5 Ribosomal protein L35A RPL35A 6165 ENSG00000182899 previous assignment to chr.18 in error Diamond-Blackfan anemia 5, 612528 (3), Autosomal dominant Rpl35a,Gm10243 (MGI:3704266,MGI:1928894) -chr3 197960199 198043719 3q29 3q29 609380 LMLN Leishmanolysin-like LMLN 89782 ENSG00000185621 Lmln (MGI:2444736) -chr4 0 4500000 4p16.3 610203 CRIPAK, FLJ3443 Cysteine-rich inhibitor of PAK1 -chr4 0 4500000 4p16.3 609456 MDCMP Muscular dystrophy, congenital, merosin-positive 619409 max lod at D4S432 Muscular dystrophy, congenital, merosin-positive, 609456 (2), Autosomal recessive -chr4 0 50000000 4p 603663 MHW1 Mental health wellness 1 10386 at D4S2949 {Mental health wellness-1}, 603663 (2) -chr4 0 4500000 4p16.3 194190 WHS Wolf-Hirschhorn syndrome contiguous gene syndrome; critical region 200kb region 1.9Mb from telomere Wolf-Hirschhorn syndrome, 194190 (4), Isolated cases -chr4 337813 384867 4p16.3 4p16.3 194648 ZNF141, D4S90, PAPA6 Zinc finger protein-141 (clone pHZ-44) ZNF141 7700 ENSG00000131127 1 family identified with mutation ?Polydactyly, postaxial, type A6, 615226 (3), Autosomal recessive -chr4 499209 540199 4p16.3 4p16.3 616918 PIGG, GPI7, MRT53 Phosphatidylinositol glycan anchor biosynthesis class G protein PIGG 54872 ENSG00000174227 Mental retardation, autosomal recessive 53, 616917 (3), Autosomal recessive Pigg (MGI:3576484) -chr4 587324 670891 4p16.3 4p16.3 180072 PDE6B, PDEB, RP40, CSNBAD2 Phosphodiesterase-6B, cGMP-specific, rod, beta PDE6B 5158 ENSG00000133256 Retinitis pigmentosa-40, 613801 (3), Autosomal recessive; Night blindness, congenital stationary, autosomal dominant 2, 163500 (3), Autosomal dominant Pde6b (MGI:97525) -chr4 672435 674275 4p16.3 4p16.3 601519 ATP5I, ATP5K ATP synthase, H+ transporting, mitochondrial FO complex, subunit E ATP5ME 521 ENSG00000169020 Atp5k (MGI:106636) -chr4 674198 682032 4p16.3 4p16.3 160782 MYL5 Myosin, light polypeptide-5, regulatory MYL5 4636 ENSG00000215375 -chr4 705831 770979 4p16.3 4p16.3 617543 PCGF3, RNF3, RNF3A Polycomb group RING finger protein 3 PCGF3 10336 ENSG00000185619 Pcgf3 (MGI:1916837) -chr4 784956 826128 4p16.3 4p16.3 605032 CPLX1, CPX1, DEE63 Complexin 1 CPLX1 10815 ENSG00000168993 Developmental and epileptic encephalopathy 63, 617976 (3), Autosomal recessive Cplx1 (MGI:104727) -chr4 849275 932329 4p16 4p16.3 602052 GAK Cyclin G associated kinase GAK 2580 ENSG00000178950 Gak (MGI:2442153) -chr4 932411 958655 4p16.3 4p16.3 616660 TMEM175 Transmembrane protein 175 TMEM175 84286 ENSG00000127419 Tmem175 (MGI:1919642) -chr4 958886 973568 4p16.3 4p16.3 601207 DGKQ, DAGK4 Diacylglycerol kinase, theta, 110kD DGKQ 1609 ENSG00000145214 Dgkq (MGI:102918) -chr4 979034 993403 4p16.3 4p16.3 610130 SLC26A1, SAT1, CAON Solute carrier family 26 (sulfate transporter), member 1 SLC26A1 10861 ENSG00000145217 mutation identified in 1 CAON patient ?Nephrolithiasis, calcium oxalate, 167030 (3), Autosomal recessive Slc26a1 (MGI:2385894) -chr4 986996 1004563 4p16.3 4p16.3 252800 IDUA, IDA Iduronidase, alpha-L- IDUA 3425 ENSG00000127415 Mucopolysaccharidosis Is, 607016 (3), Autosomal recessive; Mucopolysaccharidosis Ih/s, 607015 (3), Autosomal recessive; Mucopolysaccharidosis Ih, 607014 (3), Autosomal recessive Idua (MGI:96418) -chr4 1009929 1026897 4p16 4p16.3 605830 FGFRL1 Fibroblast growth factor receptor-like 1 FGFRL1 53834 ENSG00000127418 Fgfrl1 (MGI:2150920) -chr4 1056247 1113793 4p16.3 4p16.3 612041 RNF212, ZHP3 Ring finger protein 212 RNF212 285498 ENSG00000178222 Recombination rate QTL 1, 612042 (3) Rnf212 (MGI:3645767) -chr4 1166931 1208843 4p16.3 4p16.3 605918 SPON2 Spondin 2 SPON2 10417 ENSG00000159674 Spon2 (MGI:1923724) -chr4 1211443 1250354 4p16 4p16.3 602618 CTBP1, HADDTS C-terminal binding protein 1 CTBP1 1487 ENSG00000159692 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3), Autosomal dominant Ctbp1 (MGI:1201685) -chr4 1289889 1340136 4p16.3 4p16.3 606801 MAEA, EMP Macrophage erythroblast attacher MAEA 10296 ENSG00000090316 Maea (MGI:1891748) -chr4 1341997 1388048 4p16.3 4p16.3 614632 UVSSA, KIAA1530, UVSS3 UV-stimulated scaffold protein A UVSSA 57654 ENSG00000163945 UV-sensitive syndrome 3, 614640 (3), Autosomal recessive Uvssa (MGI:1918351) -chr4 1402931 1406441 4p16.3 4p16.3 617869 NKX1-1, SAX2 NK1 homeobox 1 NKX1-1 54729 ENSG00000235608 Nkx1-1 (MGI:109346) -chr4 1574054 1684312 4p16.3 4p16.3 617229 FAM53A, DNTNP Family with sequence similarity 53, member A FAM53A 152877 ENSG00000174137 Fam53a (MGI:1919225) -chr4 1692730 1715875 4p16.3 4p16.3 602422 SLBP, HBP Histone stem-loop binding protein SLBP 7884 ENSG00000163950 Slbp (MGI:108402) -chr4 1715951 1721372 4p16.3 4p16.3 615975 TMEM129 Transmembrane protein 129 TMEM129 92305 ENSG00000168936 Tmem129 (MGI:1915616) -chr4 1721496 1745170 4p16.3 4p16.3 605303 TACC3 Transforming, acidic, coiled-coil-containing protein 3 TACC3 10460 ENSG00000013810 Tacc3 (MGI:1341163) -chr4 1793292 1808871 4p16.3 4p16.3 134934 FGFR3, ACH Fibroblast growth factor receptor-3 FGFR3 2261 ENSG00000068078 Muenke syndrome, 602849 (3), Autosomal dominant; SADDAN, 616482 (3), Autosomal dominant; Hypochondroplasia, 146000 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Thanatophoric dysplasia, type II, 187601 (3), Autosomal dominant; Nevus, epidermal, somatic, 162900 (3); CATSHL syndrome, 610474 (3), Autosomal dominant, Autosomal recessive; Thanatophoric dysplasia, type I, 187600 (3), Autosomal dominant; Spermatocytic seminoma, somatic, 273300 (3); Bladder cancer, somatic, 109800 (3); Achondroplasia, 100800 (3), Autosomal dominant; Cervical cancer, somatic, 603956 (3); Colorectal cancer, somatic, 114500 (3); Crouzon syndrome with acanthosis nigricans, 612247 (3), Autosomal dominant Fgfr3 (MGI:95524) -chr4 1811478 1856155 4p16.3 4p16.3 604407 LETM1 Leucine zipper/EF-hand-containing transmembrane protein 1 LETM1 3954 ENSG00000168924 Letm1 (MGI:1932557) -chr4 1871392 1982206 4p16.3 4p16.3 602952 NSD2, WHSC1, MMSET Nuclear receptor-binding SET domain protein 2 NSD2 7468 ENSG00000109685 Nsd2 (MGI:1276574) -chr4 1982716 2041913 4p16.3 4p16.3 606026 NELFA, WHSC2 Negative elongation factor complex member A NELFA 7469 ENSG00000185049 Nelfa (MGI:1346098) -chr4 2035609 2043969 4p16.3 4p16.3 614690 C4orf48 chromosome 4 open reading frame 48 C4orf48 401115 ENSG00000243449 Gm1673 (MGI:2686519) -chr4 2059326 2069088 4p16.3 4p16.3 610647 NAT8L, CML3, NACED N-acetyltransferase 8-like NAT8L 339983 ENSG00000185818 mutation identified in 1 patient ?N-acetylaspartate deficiency, 614063 (3), Autosomal recessive Nat8l (MGI:2447776) -chr4 2071917 2242120 4p16.2 4p16.3 610887 POLN Polymerase, DNA, nu POLN 353497 ENSG00000130997 Poln (MGI:2675617) -chr4 2228348 2242120 4p16.3 4p16.3 613430 HAUS3, DGT3, C4orf15 HAUS augmin-like complex, subunit 3 HAUS3 79441 ENSG00000214367 Haus3 (MGI:2387633) -chr4 2269584 2418697 4p16 4p16.3 614176 ZFYVE28, LST2, KIAA1643 Zinc finger FYVE domain-containing protein 28 ZFYVE28 57732 ENSG00000159733 Zfyve28 (MGI:2684992) -chr4 2469105 2515856 4p16.3 4p16.3 602850 RNF4 RING finger protein-4 RNF4 6047 ENSG00000063978 Rnf4 (MGI:1201691) -chr4 2741647 2756335 4p16.3 4p16.3 610669 TNIP2, ABIN2, FLIP1 TNFAIP3-interacting protein 2 TNIP2 79155 ENSG00000168884 Tnip2 (MGI:2386643) -chr4 2793084 2841095 4p16.3 4p16.3 602104 SH3BP2, CRPM SH3-domain binding protein 2 SH3BP2 6452 ENSG00000087266 Cherubism, 118400 (3), Autosomal dominant Sh3bp2 (MGI:1346349) -chr4 2843843 2930064 4p16.3 4p16.3 102680 ADD1 Adducin-1, alpha ADD1 118 ENSG00000087274 {Hypertension, essential, salt-sensitive}, 145500 (3), Multifactorial Add1 (MGI:87918) -chr4 2930555 2934853 4p16.3 4p16.3 610977 TETRAN, TPO1 Tetracycline transporter-like protein MFSD10 10227 ENSG00000109736 Mfsd10 (MGI:1915544) -chr4 2937935 2963505 4p16.3 4p16.3 611526 NOP14, NOL14, RES425 Nop14, S. cerevisiae, homolog of NOP14 8602 ENSG00000087269 Nop14 (MGI:1922666) -chr4 2963503 3040759 4p16.3 4p16.3 137026 GRK4, GPRK2L, GPRK4 G protein-coupled receptor kinase 4 GRK4 2868 ENSG00000125388 Grk4 (MGI:95801) -chr4 3074680 3243959 4p16.3 4p16.3 613004 HTT, HD, IT15, LOMARS Huntingtin HTT 3064 ENSG00000197386 distal to D4S10 Lopes-Maciel-Rodan syndrome, 617435 (3), Autosomal recessive; Huntington disease, 143100 (3), Autosomal dominant Htt (MGI:96067) -chr4 3285890 3439912 4p16.2 4p16.3 602512 RGS12 Regulator of G protein signaling 12 RGS12 6002 ENSG00000159788 Rgs12 (MGI:1918979) -chr4 3441967 3449485 4p16 4p16.3 604552 HGFAC, HGFA Hepatocyte growth factor activator HGFAC 3083 ENSG00000109758 Hgfac (MGI:1859281) -chr4 3463305 3501481 4p16.2 4p16.3 610285 DOK7, C4orf25, CMS10, FADS3 Downstream of tyrosine kinase 7 DOK7 285489 ENSG00000175920 mutation identified in 1 FADS3 family Fetal akinesia deformation sequence 3, 618389 (3), Autosomal recessive; Myasthenic syndrome, congenital, 10, 254300 (3), Autosomal recessive Dok7 (MGI:3584043) -chr4 3503611 3532496 4p16.3 4p16.3 104225 LRPAP1, A2MRAP, MYP23 Low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1) LRPAP1 4043 ENSG00000163956 Myopia 23, autosomal recessive, 615431 (3), Autosomal recessive Lrpap1 (MGI:96829) -chr4 3766384 3768525 4p16.1 4p16.3 104250 ADRA2C, ADRA2L2 Adrenergic, alpha-2C-, receptor ADRA2C 152 ENSG00000184160 linked to D4S10 {Congestive heart failure and beta-blocker response, modifier of} (3) Adra2c (MGI:87936) -chr4 4188725 4226928 4p16.2 4p16.3 607806 OTOP1 Otopetrin 1 OTOP1 133060 ENSG00000163982 Otop1 (MGI:2388363) -chr4 4267700 4290194 4p16.3 4p16.3 617684 LYAR Ly1 antibody-reactive protein LYAR 55646 ENSG00000145220 Lyar (MGI:107470) -chr4 4290196 4321785 4p16.3 4p16.3 616238 ZBTB49, ZNF509 Zinc finger- and BTB domain-containing protein 49 ZBTB49 166793 ENSG00000168826 Zbtb49 (MGI:1922329) -chr4 4386531 4419057 4p16.3 4p16.3 607645 NSG1, D4S234E, D4S234 Neuronal vesicle trafficking associated 1 NSG1 27065 ENSG00000168824 Nsg1 (MGI:109149) -chr4 4418967 4542342 4p16.3-p16.2 4p16.3-p16.2 606046 STX18 Syntaxin 18 STX18 53407 ENSG00000168818 Stx18 (MGI:1918366) -chr4 4859664 4863935 4p16.1 4p16.2 142983 MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3 MSH homeobox 1 MSX1 4487 ENSG00000163132 Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3), Autosomal dominant; Ectodermal dysplasia 3, Witkop type, 189500 (3), Autosomal dominant; Orofacial cleft 5, 608874 (3), Autosomal dominant Msx1 (MGI:97168) -chr4 5014585 5019469 4p16.2 4p16.2 607930 CYTL1, C17 Cytokine-like protein 1 CYTL1 54360 ENSG00000170891 Cytl1 (MGI:2684993) -chr4 5562407 5709547 4p16 4p16.2 607261 EVC2, LBN, WAD EvC ciliary complex subunit 2 (limbin) EVC2 132884 ENSG00000173040 Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant Evc2 (MGI:1915775) -chr4 5711198 5829042 4p16 4p16.2 604831 EVC EvC ciliary complex subunit 1 EVC 2121 ENSG00000072840 mutation identified in 1 WAD patient Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; ?Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant Evc (MGI:1890596) -chr4 5820763 5893085 4p16.1-p15 4p16.2 602462 CRMP1, DPYSL1, DRP1 Collapsin response mediator protein-1 CRMP1 1400 ENSG00000072832 Crmp1 (MGI:107793) -chr4 6000000 11300000 4p16 600593 CRSA, CRS3 Craniosynostosis, Adelaide type 7885 Craniosynostosis, Adelaide type, 600593 (2), ?Autosomal dominant -chr4 6000000 182300000 4p16-q34 603783 INTLQ1 Intelligence quantitative trait locus 1 100462721 associated with D4S2943, MSX1, and D4S1607 {Intelligence QTL1}, 603783 (2) -chr4 6000000 35800000 4p16-p15 611863 MNDEC Microtia with nasolacrimal duct imperforation and eye coloboma 100188855 copy number variant (CNV) association Microtia with nasolacrimal duct imperforation and eye coloboma, 611863 (4) -chr4 6000000 11300000 4p16 611637 PLSA1, PLSA Primary lateral sclerosis, adult, 1 100240702 max lod at D4S2936 Primary lateral sclerosis, adult, 1, 611637 (2), Autosomal dominant -chr4 6000000 27700000 4p16-p15.2 605480 SLEB3 Systemic lupus erythematosus, susceptibility to, 3 64695 {Systemic lupus erythematosus, susceptibility to, 3}, 605480 (2) -chr4 6000000 35800000 4p16-p15 612335 SPG38 Spastic paraplegia 38, autosomal dominant 100049707 between D4S432 and D4S1599 Spastic paraplegia 38, autosomal dominant, 612335 (2), Autosomal dominant -chr4 6024924 6200554 4p16.2 4p16.1 611195 JAKMIP1, JAMIP1, MARLIN1 Janus kinase and microtubule-interacting protein 1 JAKMIP1 152789 ENSG00000152969 Jakmip1 (MGI:1923321) -chr4 6260367 6303264 4p16.1 4p16.1 606201 WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41 Wolframin WFS1 7466 ENSG00000109501 mutation identified in 1 CTRCT41 family Deafness, autosomal dominant 6/14/38, 600965 (3), Autosomal dominant; ?Cataract 41, 116400 (3), Autosomal dominant; Wolfram-like syndrome, autosomal dominant, 614296 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3), Autosomal dominant; Wolfram syndrome 1, 222300 (3), Autosomal recessive Wfs1 (MGI:1328355) -chr4 6320577 6563798 4p16 4p16.1 605997 PPP2R2C, PR52 Protein phosphatase 2A, regulatory subunit B, gamma isoform PPP2R2C 5522 ENSG00000074211 Ppp2r2c (MGI:2442660) -chr4 6575188 6623361 4p16.1 4p16.1 618899 MAN2B2 Mannosidase, alpha, class 2B, member 2 MAN2B2 23324 ENSG00000013288 Man2b2 (MGI:1195262) -chr4 6640684 6642728 4p16.1 4p16.1 616905 MRFAP1, PAM14, PGR1` MORF4 family- associated protein 1 MRFAP1 93621 ENSG00000179010 Mrfap1 (MGI:1914818) -chr4 6693877 6697169 4p16 4p16.1 600614 S100P S100 calcium-binding protein P S100P 6286 ENSG00000163993 -chr4 6716173 6717663 4p16.1 4p16.1 605695 BLOC1S4, BLOS4, CNO Biogenesis of lysosome-related organelles complex 1, subunit 4 BLOC1S4 55330 ENSG00000186222 Bloc1s4 (MGI:1929230) -chr4 6782726 6884163 4p16.1 4p16.1 619237 KIAA0232 KIAA0232 gene KIAA0232 9778 ENSG00000170871 D5Ertd579e (MGI:1261849) -chr4 6909443 7033113 4p16.1 4p16.1 614855 TBC1D14, KIAA1322 TBC1 domain family, member 14 TBC1D14 57533 ENSG00000132405 Tbc1d14 (MGI:1098708) -chr4 7040848 7043000 4p16.1 4p16.1 619347 CCDC96 Coiled-coil domain-containing protein 96 CCDC96 257236 ENSG00000173013 Ccdc96 (MGI:1913967) -chr4 7043371 7057951 4p16.1 4p16.1 608790 TADA2B, ADA2B Transcriptional adaptor 2B TADA2B 93624 ENSG00000173011 Tada2b (MGI:3035274) -chr4 7058894 7068063 4p16 4p16.1 606173 GRPEL1, HMGE GrpE-like 1, mitochondrial GRPEL1 80273 ENSG00000109519 Grpel1 (MGI:1334417) -chr4 7192537 7742827 4p16.1 4p16.1 606284 SORCS2, KIAA1329 Sortilin-related VPS10 domain-containing receptor 2 SORCS2 57537 ENSG00000184985 Sorcs2 (MGI:1932289) -chr4 7758712 7939860 4p16.1 4p16.1 608252 AFAP1, AFAP, AFAP110 Actin filament-associated protein 1 AFAP1 60312 ENSG00000196526 Afap1 (MGI:1917542) -chr4 7965311 8158812 4p16 4p16.1 612544 ABLIM2, KIAA1808 Actin-binding LIM protein family, member 2 ABLIM2 84448 ENSG00000163995 Ablim2 (MGI:2385758) -chr4 8005300 8005380 Chr.4 4p16.1 613185 MIR95, MIRN95 Micro RNA 95 MIR95 407052 ENSG00000207807 -chr4 8269711 8307097 4p16.1 4p16.1 608785 HTRA3, PRSP HTRA serine peptidase 3 HTRA3 94031 ENSG00000170801 Htra3 (MGI:1925808) -chr4 8366262 8440722 4p15.3 4p16.1 603402 ACOX3 Acyl-coenzyme A oxidase 3, pristanoyl ACOX3 8310 ENSG00000087008 Acox3 (MGI:1933156) -chr4 8440773 8512530 4p16.3 4p16.1 614309 TRMT44, METTL19 tRNA methyltransferase 44 homolog TRMT44 152992 ENSG00000155275 Trmt44 (MGI:1926140) -chr4 8580391 8590022 4p16.1 4p16.1 606921 GPR78 G protein-coupled receptor 78 GPR78 27201 ENSG00000155269 -chr4 8592764 8619751 4p16.1 4p16.1 603105 CPZ Carboxypeptidase Z CPZ 8532 ENSG00000109625 Cpz (MGI:88487) -chr4 8846075 8871838 4p16.1 4p16.1 142992 HMX1, H6 Homeo box (H6 family) 1 HMX1 3166 ENSG00000215612 Oculoauricular syndrome, 612109 (3), Autosomal recessive Hmx1 (MGI:107178) -chr4 9358381 9359973 4p16.1 4p16.1 607011 USP17L9P, USP17 Ubiquitin-specific protease 17-like family member 9, pseudogene USP17L9P 391627 ENSG00000251694 -chr4 9771124 10040269 4p16-p15.3 4p16.1 606142 SLC2A9, GLUT9, UAQTL2 Solute carrier family 2 (facilitated glucose transporter), member 9 SLC2A9 56606 ENSG00000109667 {Uric acid concentration, serum, QTL 2}, 612076 (3), Autosomal dominant, Autosomal recessive; Hypouricemia, renal, 2, 612076 (3), Autosomal dominant, Autosomal recessive Slc2a9 (MGI:2152844) -chr4 9781633 9784008 4p16.1-p15.3 4p16.1 126453 DRD5, DRD1B, DRD1L2 Dopamine receptor D5 DRD5 1816 ENSG00000169676 pseudogenes on 2p11 and 1q21 {Blepharospasm, primary benign}, 606798 (3), Autosomal dominant; {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3), Autosomal dominant Drd5 (MGI:94927) -chr4 10074338 10116859 4p16.1 4p16.1 604734 WDR1, PFITS WD repeat-containing protein 1 WDR1 9948 ENSG00000071127 Periodic fever, immunodeficiency, and thrombocytopenia syndrome, 150550 (3), Autosomal recessive Wdr1 (MGI:1337100) -chr4 10439879 10457425 4p16.1 4p16.1 617734 ZNF518B, KIAA1729 Zinc finger protein 518B ZNF518B 85460 ENSG00000178163 Zfp518b (MGI:2140750) -chr4 10486394 10734852 4p16.1 4p16.1 611434 CLNK, MIST Cytokine-dependent hematopoietic cell linker CLNK 116449 ENSG00000109684 Clnk (MGI:1351468) -chr4 11393149 11434397 4p15.33 4p15.33 603244 HS3ST1, 3OST, 3OST1 Heparan sulfate-glucosamine 3-sulfotransferase 1 HS3ST1 9957 ENSG00000002587 Hs3st1 (MGI:1201606) -chr4 13367723 13484339 4p15.33 4p15.33 612994 RAB28, CORD18 Ras-associated protein 28 RAB28 9364 ENSG00000157869 Cone-rod dystrophy 18, 615374 (3), Autosomal recessive Rab28 (MGI:1917285) -chr4 13540829 13544507 4p16.1 4p15.33 602183 NKX3-2, BAPX1, SMMD Bagpipe homeo box, Drosophila, homolog of NKX3-2 579 ENSG00000109705 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive Nkx3-2 (MGI:108015) -chr4 13568737 13627724 4p16.1 4p15.33 616746 BOD1L1, FAM44A BOD1-like protein 1 BOD1L1 259282 ENSG00000038219 Bod1l (MGI:2444804) -chr4 15002425 15070152 4q32-q33 4p15.32 610605 CPEB2 Cytoplasmic polyadenylation element-binding protein 2 CPEB2 132864 ENSG00000137449 Cpeb2 (MGI:2442640) -chr4 15468659 15601556 4p15.3 4p15.32 612013 CC2D2A, KIAA1345, MKS6, COACH2 Coiled-coil and C2 domains-containing protein 2A CC2D2A 57545 ENSG00000048342 COACH syndrome 2, 619111 (3); Meckel syndrome 6, 612284 (3), Autosomal recessive; Joubert syndrome 9, 612285 (3), Autosomal recessive Cc2d2a (MGI:1924487) -chr4 15604380 15681543 4p15.33 4p15.32 605655 FBXL5, FBL5 F-box and leucine-rich repeat protein 5 FBXL5 26234 ENSG00000118564 Fbxl5 (MGI:2152883) -chr4 15701865 15774177 4p15.32 4p15.32 600387 BST1 Bone marrow stromal cell antigen 1 BST1 683 ENSG00000109743 previously assigned to 14q32.3 Bst1 (MGI:105370) -chr4 15778327 15853231 4p15 4p15.32 107270 CD38 CD38 antigen (p45); ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase CD38 952 ENSG00000004468 Cd38 (MGI:107474) -chr4 15935576 15938739 4p15.3 4p15.32 607737 FGFBP1, FGFBP, HBP17 Fibroblast growth factor-binding protein 1 FGFBP1 9982 ENSG00000137440 Fgfbp1 (MGI:1096350) -chr4 15960244 15963174 4p16 4p15.32 607713 KSP37 Killer-specific secretory protein, 37kD FGFBP2 83888 ENSG00000137441 -chr4 15968225 16084058 4p15.3 4p15.32 604365 PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4 Prominin 1 PROM1 8842 ENSG00000007062 Macular dystrophy, retinal, 2, 608051 (3), Autosomal dominant; Retinitis pigmentosa 41, 612095 (3), Autosomal recessive; Stargardt disease 4, 603786 (3), Autosomal dominant; Cone-rod dystrophy 12, 612657 (3), Autosomal dominant, Autosomal recessive Prom1 (MGI:1100886) -chr4 16160504 16226476 4p15.32 4p15.32 612758 TAPT1, CMVFR, OCLSBG Transmembrane anterior posterior transformation 1 TAPT1 202018 ENSG00000169762 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3), Autosomal recessive Tapt1 (MGI:2683537) -chr4 16501540 16898786 4p15 4p15.32 603450 LDB2, CLIM1 LIM domain-binding factor-2 LDB2 9079 ENSG00000169744 Ldb2 (MGI:894670) -chr4 17486394 17512089 4p15.31 4p15.32 612676 QDPR, DHPR Quinoid dihydropteridine reductase QDPR 5860 ENSG00000151552 Hyperphenylalaninemia, BH4-deficient, C, 261630 (3), Autosomal recessive Qdpr (MGI:97836) -chr4 17515164 17527103 4p15.32 4p15.32 618988 CLRN2, DFNB117 Clarin 2 CLRN2 645104 ENSG00000249581 mutation identified in 1 DFNB117 family ?Deafness, autosomal recessive 117, 619174 (3), Autosomal recessive Clrn2 (MGI:3646230) -chr4 17577197 17607969 4p11-q12 4p15.32 170250 PEPS Peptidase S LAP3 51056 ENSG00000002549 Lap3 (MGI:1914238) -chr4 17614640 17634104 4p15.32 4p15.32 610311 MED28, EG1, MAGICIN Mediator complex subunit 28 MED28 80306 ENSG00000118579 Med28 (MGI:1914249) -chr4 17700000 21300000 4p15.3 604802 HDL3, HLN2 Huntington disease-like 3 53369 Huntington disease-like 3, 604802 (2), Autosomal recessive -chr4 17700000 21300000 4p15.3 612226 STQTL13 Stature quantitative trait locus 13 100270796 associated with rs16896068 {Stature QTL 13}, 612226 (2) -chr4 17810941 17844864 4p15.3 4p15.31 606280 NCAPG, CAPG Non-SMC condensin I complex subunit G NCAPG 64151 ENSG00000109805 Ncapg (MGI:1930197) -chr4 17841186 18023286 4p15.3 4p15.31 611799 LCORL, MLR1 Ligand-dependent nuclear receptor corepressor-like protein LCORL 254251 ENSG00000178177 Lcorl (MGI:2651932) -chr4 20251904 20620560 4p15.2 4p15.31 603746 SLIT2 SLIT guidance ligand 2 SLIT2 9353 ENSG00000145147 Slit2 (MGI:1315205) -chr4 20528274 20528383 4p15.31 4p15.31 616770 MIR218-1 Micro RNA 218-1 MIR218-1 407000 ENSG00000207732 within intron of SLIT2 Mir218-1 (MGI:3618751) -chr4 20728519 21948771 4p15.3 4p15.3-p15.2 608182 KCNIP4, KCHIP4 Kv channel-interacting protein 4 KCNIP4 80333 ENSG00000185774 Kcnip4 (MGI:1933131) -chr4 22387375 22516065 4p15.2 4p15.2 612303 ADGRA3, GPR125 Adhesion G protein-coupled receptor A3 ADGRA3 166647 ENSG00000152990 Adgra3 (MGI:1917943) -chr4 22692936 22819568 4p15.31 4p15.2 606619 GBA3, CBGL1 Glucosidase, beta, acid 3 GBA3 57733 ENSG00000249948 -chr4 23792020 24472904 4p15.1 4p15.2 604517 PPARGC1A, PPARGC1 Peroxisome proliferator-activated receptor-gamma, coactivator 1, alpha PPARGC1A 10891 ENSG00000109819 Ppargc1a (MGI:1342774) -chr4 24527474 24584553 4p15.3 4p15.2 603403 DHX15, DDX15, DBP1, HRH2 DEAH-box helicase 15 DHX15 1665 ENSG00000109606 Dhx15 (MGI:1099786) -chr4 24795477 24800844 4p15.3-p15.1 4p15.2 185490 SOD3 Superoxide dismutase-3, extracellular SOD3 6649 ENSG00000109610 [Superoxide dismutase, elevated extracellular] (3) Sod3 (MGI:103181) -chr4 24991959 25030945 4p15.2 4p15.2 608301 LGI2, KIAA1916 Leucine-rich gene, glioma-inactivated, 2 LGI2 55203 ENSG00000153012 Lgi2 (MGI:2180196) -chr4 25120013 25160545 4p15.2 4p15.2 613009 SEPSECS, SLA, LP, PCH2D O-phosphoserine tRNA-selenocysteine tRNA synthase SEPSECS 51091 ENSG00000109618 Pontocerebellar hypoplasia type 2D, 613811 (3), Autosomal recessive Sepsecs (MGI:1098791) -chr4 25234032 25279203 4p15.2 4p15.2 612101 PI4K2B Phosphatidylinositol 4-kinase, type 2, beta PI4K2B 55300 ENSG00000038210 Pi4k2b (MGI:1914323) -chr4 25312773 25373175 4p15.2 4p15.2 611792 ZCCHC4 Zinc finger CCHC domain-containing protein 4 ZCCHC4 29063 ENSG00000168228 Zcchc4 (MGI:1926046) -chr4 25377262 25418497 4p15.2 4p15.2 606947 ANAPC4, APC4 Anaphase-promoting complex, subunit 4 ANAPC4 29945 ENSG00000053900 Anapc4 (MGI:1098673) -chr4 25655850 25678747 4p15.31-p15.2 4p15.2 604217 SLC34A2, PULAM Solute carrier family 34 (sodium/phosphate cotransporter), member 2 SLC34A2 10568 ENSG00000157765 Pulmonary alveolar microlithiasis, 265100 (3), Autosomal recessive Slc34a2 (MGI:1342284) -chr4 25914219 25929811 4p15.2 4p15.2 617465 SMIM20, MITRAC7, C4orf52 Small integral membrane protein 20 SMIM20 389203 ENSG00000250317 Smim20 (MGI:1913528) -chr4 26163457 26435130 4p15.2 4p15.2 147183 RBPJ, RBPSUH, IGKJRB1, AOS3 Recombination signal-binding protein 1 for kappa J region RBPJ 3516 ENSG00000168214 pseudogenes at 9q13, 9p13, and 3q25 Adams-Oliver syndrome 3, 614814 (3), Autosomal dominant Rbpj (MGI:96522) -chr4 26481395 26490483 4p15.2-p15.1 4p15.2 118444 CCKAR Cholecystokinin A receptor CCKAR 886 ENSG00000163394 Cckar (MGI:99478) -chr4 26860840 27025380 4p15.1 4p15.2 610841 STIM2, KIAA1482 Stromal interaction molecule 2 STIM2 57620 ENSG00000109689 Stim2 (MGI:2151156) -chr4 27700000 41200000 4p15-p14 608410 BMIQ7 Body mass index quantitative trait locus 7 404683 {Obesity, susceptibility to, BMIQ7}, 608410 (2) -chr4 27700000 35800000 4p15 607221 EPPS Epilepsy, partial, with pericentral spikes 266789 Epilepsy, partial, with pericentral spikes, 607221 (2) -chr4 27700000 58500000 4p15.1-q12 607107 NPC1, NPCA1 Nasopharyngeal carcinoma 1 257641 ?associated with acyl-CoA thioesterase 7-like {Nasopharyngeal carcinoma 1}, 607107 (2) -chr4 30719860 31146799 4p15 4p15.1 602988 PCDH7, BHPCDH Protocadherin-7 PCDH7 5099 ENSG00000169851 Pcdh7 (MGI:1860487) -chr4 35800000 41200000 4p14 614991 UCH1LAS Ubiquitin carboxyl-terminal esterase L1, antisense 101180899 -chr4 36005185 36244832 4p14 4p14 606645 ARAP2, CENTD1, KIAA0580 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 ARAP2 116984 ENSG00000047365 Arap2 (MGI:2684416) -chr4 36281593 36347510 4p14 4p14 616979 DTHD1 Death domain-containing protein 1 DTHD1 401124 ENSG00000197057 Dthd1 (MGI:4937018) -chr4 37590803 37686402 4p14 4p14 611212 RELL1 Relt-like 1 RELL1 768211 ENSG00000181826 Rell1 (MGI:2140767) -chr4 37826685 37862936 4p14-q12 4p14 172000 PGM2 Phosphoglucomutase-2 PGM2 55276 ENSG00000169299 Pgm2 (MGI:97564) -chr4 37891083 38139172 4p15.1-q21 4p14 609850 TBC1D1, KIAA1108 TBC1 domain family, member 1 TBC1D1 23216 ENSG00000065882 Tbc1d1 (MGI:1889508) -chr4 37960397 37961127 4p12 4p14 604231 PTTG2 Pituitary tumor-transforming gene 2 PTTG2 10744 ENSG00000250254 Pttg1 (MGI:1353578) -chr4 38664078 38701516 4p14 4p14 609392 KLF3, BKLF Kruppel-like factor 3 KLF3 51274 ENSG00000109787 Klf3 (MGI:1342773) -chr4 38772237 38782989 4p14 4p14 606270 TLR10 Toll-like receptor 10 TLR10 81793 ENSG00000174123 -chr4 38791054 38806261 4p14 4p14 601194 TLR1, TIL. LPRS5 Toll-like receptor-1 TLR1 7096 ENSG00000174125 {Leprosy, susceptibility to, 5}, 613223 (3); {Leprosy, protection against}, 613223 (3) Tlr1 (MGI:1341295) -chr4 38822896 38857754 4p14 4p14 605403 TLR6 Toll-like receptor 6 TLR6 10333 ENSG00000174130 Tlr6 (MGI:1341296) -chr4 38868031 38868126 4p14 4p14 615469 MIR574, MIR574-3p Micro RNA 574 MIR574 693159 ENSG00000207944 Mir574 (MGI:3718549) -chr4 39044673 39143100 4p15.1-p13 4p14 608064 KLHL5 Kelch-like 5 KLHL5 51088 ENSG00000109790 Klhl5 (MGI:1919028) -chr4 39182472 39285809 4p14-p11 4p14 608151 WDR19, SRTD5, ATD5, NPHP13, CED4 WD repeat-containing protein 19 WDR19 57728 ENSG00000157796 mutation identified in 1 CED4 family and 1 SRTD5 family Nephronophthisis 13, 614377 (3), Autosomal recessive; Senior-Loken syndrome 8, 616307 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3), Autosomal recessive; ?Cranioectodermal dysplasia 4, 614378 (3), Autosomal recessive Wdr19 (MGI:2443231) -chr4 39287455 39366380 4p14-p13 4p14 102579 RFC1, RECC1, CANVAS Replication factor C1, 145kD (activator 1, 145kD) RFC1 5981 ENSG00000035928 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575 (3), Autosomal recessive Rfc1 (MGI:97891) -chr4 39406929 39451532 4p14 4p14 611135 KLB, BKL Klotho, beta KLB 152831 ENSG00000134962 Klb (MGI:1932466) -chr4 39454123 39458921 4p13 4p14 603686 RPL9 Ribosomal protein L9 RPL9 6133 ENSG00000163682 pseudogene on Xpter-p21 Rpl9 (MGI:1298373) -chr4 39459055 39479505 4p14 4p14 607031 LIAS, PDHLD, HGCLAS Lipoic acid synthase LIAS 11019 ENSG00000121897 Hyperglycinemia, lactic acidosis, and seizures, 614462 (3), Autosomal recessive Lias (MGI:1934604) -chr4 39498754 39527438 4p15.1 4p14 603370 UGDH, UDPGDH, DEE84 UDP-glucose dehydrogenase UGDH 7358 ENSG00000109814 Developmental and epileptic encephalopathy 84, 618792 (3), Autosomal recessive Ugdh (MGI:1306785) -chr4 39698135 39782791 4p14 4p14 602846 HIP2 Huntingtin-interacting protein-2 UBE2K 3093 ENSG00000078140 Ube2k (MGI:1858216) -chr4 39822862 39977910 4p14 4p14 613200 PDS5A, KIAA0648, SCC112 PDS5 cohesin-associated factor A PDS5A 23244 ENSG00000121892 Pds5a (MGI:1918771) -chr4 40042916 40057198 4p14-p11 4p14 611963 LOC344967 Acyl-CoA thioesterase 7-like 344967 ENSG00000205794 ?associated with nasopharyngeal carcinoma -chr4 40056222 40187038 4p14 4p14 619139 N4BP2, KIAA1413 NEDD4-binding protein 2 N4BP2 55728 ENSG00000078177 N4bp2 (MGI:2684414) -chr4 40191079 40246966 4p13 4p14 602037 RHOH, ARHH, TTF Ras homolog gene family, member H RHOH 399 ENSG00000168421 mutation identified in 1 EV4 family {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 (3), Autosomal recessive Rhoh (MGI:1921984) -chr4 40335332 40355216 4p15.1-p14 4p14 605116 CHRNA9 Cholinergic receptor, neuronal nicotinic, alpha polypeptide 9 CHRNA9 55584 ENSG00000174343 Chrna9 (MGI:1202403) -chr4 40423269 40630910 4p14 4p14 619104 RBM7 RNA-binding motif protein 47 RBM47 54502 ENSG00000163694 Rbm47 (MGI:2384294) -chr4 40749873 40815728 4p14 4p14 617185 NSUN7 NOP2/SUN RNA methyltransferase family, member 7 NSUN7 79730 ENSG00000179299 Nsun7 (MGI:1918168) -chr4 40810026 41216713 4p14 4p14-p13 602710 APBB2, FE65L1 Amyloid beta A4 precursor protein-binding, family B, member 2 (Fe65-like 1) APBB2 323 ENSG00000163697 Apbb2 (MGI:108405) -chr4 41200000 87100000 4p13-q21 605841 NRCLP2 Narcolepsy 2 100918 max lod at D4S2987 Narcolepsy 2, 605841 (2) -chr4 41256927 41268454 4p14 4p13 191342 UCHL1, PARK5, SPG79, NDGOA Ubiquitin C-terminal esterase L1 UCHL1 7345 ENSG00000154277 mutation identified in 1 PARK5 family Spastic paraplegia 79, autosomal recessive, 615491 (3), Autosomal recessive; {?Parkinson disease 5, susceptibility to}, 613643 (3), Autosomal dominant Uchl1 (MGI:103149) -chr4 41359606 41700043 4p13 4p13 617750 LIMCH1, LMO7B LIM and calponin homology domains-containing protein 1 LIMCH1 22998 ENSG00000064042 Limch1 (MGI:1924819) -chr4 41744081 41748724 4p12 4p13 603851 PHOX2B, NBPHOX, PMX2B, NBLST2, CCHS Paired mesoderm homeo box 2B PHOX2B 8929 ENSG00000109132 {Neuroblastoma, susceptibility to, 2}, 613013 (3); Neuroblastoma with Hirschsprung disease, 613013 (3); Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, 209880 (3), Autosomal dominant Phox2b (MGI:1100882) -chr4 41935119 41960802 4q13 4p13 618515 TMEM33 Transmembrane protein 33 TMEM33 55161 ENSG00000109133 Tmem33 (MGI:1915128) -chr4 41990501 42090460 4p13 4p13 604604 SLC30A9, C4orf1, HUEL, BILAPES Solute carrier family 30 (zinc transporter), member 9 SLC30A9 10463 ENSG00000014824 mutation identified in 1 BILAPES family ?Birk-Landau-Perez syndrome, 617595 (3), Autosomal recessive Slc30a9 (MGI:1923690) -chr4 42397487 42402486 4p13 4p13 617325 SHISA3 Shisa family, member 3 SHISA3 152573 ENSG00000178343 Shisa3 (MGI:3041225) -chr4 42408372 42657104 4p13 4p13 609542 ATP8A1 ATPase, class I, type 8A, member 1 ATP8A1 10396 ENSG00000124406 Atp8a1 (MGI:1330848) -chr4 42892712 43030657 4p13 4p13 613283 GRXCR1 Glutaredoxin, cysteine-rich, 1 GRXCR1 389207 ENSG00000215203 Deafness, autosomal recessive 25, 613285 (3), Autosomal recessive Grxcr1 (MGI:3577767) -chr4 44173902 44449791 4p13 4p13 618442 KCTD8 Potassium channel tetramerization domain-containing protein 8 KCTD8 386617 ENSG00000183783 Kctd8 (MGI:2443804) -chr4 44678419 44700927 4p12 4p12 617064 GUF1, EF4, DEE40 GUF1 homolog, GTPase GUF1 60558 ENSG00000151806 mutation identified in 1 DEE40 family ?Developmental and epileptic encephalopathy 40, 617065 (3), Autosomal recessive Guf1 (MGI:2140726) -chr4 44701794 44726633 4p13 4p12 613222 GNPDA2, GNP2 Glucosamine-6-phosphate deaminase 2 GNPDA2 132789 ENSG00000163281 Gnpda2 (MGI:1915230) -chr4 46035768 46124053 4p14-q21.1 4p12 137166 GABRG1 Gamma-aminobutyric acid (GABA) A receptor, gamma-1 GABRG1 2565 ENSG00000163285 Gabrg1 (MGI:103156) -chr4 46243547 46390299 4p13-p12 4p12 137140 GABRA2, DEE78 Gamma-aminobutyric acid (GABA) A receptor, alpha-2 GABRA2 2555 ENSG00000151834 Developmental and epileptic encephalopathy 78, 618557 (3), Autosomal dominant; {Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial Gabra2 (MGI:95614) -chr4 46734826 46909265 4p12 4p12 609811 COX7B2 Cytochrome C oxidase subunit VIIb2 COX7B2 170712 ENSG00000170516 Cox7b2 (MGI:1925424) -chr4 46918899 46993580 4p14-q12 4p12 137141 GABRA4 Gamma-aminobutyric acid (GABA) A receptor, alpha-4 GABRA4 2557 ENSG00000109158 cluster with GABRA2, B1, G1; ?involved in autism Gabra4 (MGI:95616) -chr4 46993559 47438408 4p13-p12 4p12 137190 GABRB1, DEE45 Gamma-aminobutyric acid (GABA) A receptor, beta-1 GABRB1 2560 ENSG00000163288 Developmental and epileptic encephalopathy 45, 617153 (3), Autosomal dominant Gabrb1 (MGI:95619) -chr4 47450786 47463701 4p12 4p12 616656 COMMD8 COMM domain-containing protein 8 COMMD8 54951 ENSG00000169019 Commd8 (MGI:1343485) -chr4 47594000 47838066 4p12 4p12 605236 CORIN, CRN, TMPRSS10, ATC2, PEE5 Corin, serine peptidase CORIN 10699 ENSG00000145244 Preeclampsia/eclampsia 5, 614595 (3) Corin (MGI:1349451) -chr4 47935014 48016717 4p12-cen 4p12 123825 CNGA1, CNCG1, RP49 Cyclic nucleotide gated channel, alpha 1 CNGA1 1259 ENSG00000198515 Retinitis pigmentosa 49, 613756 (3) Cnga1 (MGI:88436) -chr4 48063503 48135321 4p12 4p12 600058 TXK, BTKL TXK tyrosine kinase TXK 7294 ENSG00000074966 Txk (MGI:102960) -chr4 48135782 48269863 4p12 4p12-p11 600583 TEC tec protein tyrosine kinase TEC 7006 ENSG00000135605 Tec (MGI:98662) -chr4 48341474 48426200 4p11 4p11 610492 SLAIN2, KIAA1458 SLAIN motif family, member 2 SLAIN2 57606 ENSG00000109171 Slain2 (MGI:1923241) -chr4 48483342 48489525 4p11 4p11 618563 SLC10A4 Solute carrier family 10 (sodium/bile acid cotransporter family), member 4 SLC10A4 201780 ENSG00000145248 Slc10a4,Slc10a4-ps (MGI:3606480,MGI:3645333) -chr4 48490251 48499350 4p11 4p11 607520 ZAR1 Zygote arrest 1 ZAR1 326340 ENSG00000182223 Zar1 (MGI:2180337) -chr4 48986246 49062078 4p11 4p11 618561 CWH43, PGAP2IP Cell wall biogenesis protein 43 C-terminal homolog CWH43 80157 ENSG00000109182 Cwh43 (MGI:2444131) -chr4 50000000 190214555 4q 603664 MHW2 Mental health wellness 2 50979 at D4S397 {Mental health wellness-2}, 603664 (2) -chr4 50000000 190214555 4q 601454 PSORS3 Psoriasis susceptibility 3 7889 {Psoriasis susceptibility 3}, 601454 (2) -chr4 50000000 190214555 4q 610430 WM2 Macroglobulinemia, Waldenstrom, susceptibility to, 2 100188811 between D4S2910 and D4S1539 {Macroglobulinemia, Waldenstrom, susceptibility to, 2}, 610430 (2) -chr4 51800000 69400000 4q12-q13.2 609952 DFNB55 Deafness, autosomal recessive 55 494148 max lod at D4S2638 Deafness, autosomal recessive 55, 609952 (2), Autosomal recessive -chr4 51800000 65500000 4q12-q13.1 614329 MRT31 Mental retardation, autosomal recessive 31 100852399 between rs11944876 and rs6551838 Mental retardation, autosomal recessive 31, 614329 (2), Autosomal recessive -chr4 51800000 58500000 4q12 609258 MYP9 Myopia 9 553194 Myopia 9, 609258 (2), Multifactorial -chr4 51800000 58500000 4q12 106700 TAPVR1 Total anomalous pulmonary venous return 1 6893 between D4S1630 and D4S3019; ?mutation in KDR Total anomalous pulmonary venous return, 106700 (2), Autosomal dominant -chr4 51843131 51916836 4q12 4q12 612977 DCUN1D4, KIAA0276 DCN1 domain-containing protein 4 DCUN1D4 23142 ENSG00000109184 Dcun1d4 (MGI:2140972) -chr4 52020705 52038298 4q12 4q12 600900 SGCB, LGMDR4 Sarcoglycan, beta (43kD dystrophin-associated glycoprotein) SGCB 6443 ENSG00000163069 Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 (3), Autosomal recessive Sgcb (MGI:1346523) -chr4 52051303 52097298 4q11-q12 4q12 612814 SPATA18, SPETEX1 Spermatogenesis-associated protein 18 SPATA18 132671 ENSG00000163071 Spata18 (MGI:1920722) -chr4 52590959 52659300 4q12 4q12 612849 USP46 Ubiquitin-specific peptidase 46 USP46 64854 ENSG00000109189 Usp46 (MGI:1916977) -chr4 52712393 52720696 4q12 4q12 614625 DANCR, ANCR, KIAA0114 Differentiation-antagonizing noncoding RNA DANCR 57291 ENSG00000226950 Dancr (MGI:1917286) -chr4 52712681 52712746 4q12 4q12 614627 MIR4449 Micro RNA 4449 MIR4449 100616436 ENSG00000264585 -chr4 52713248 52713369 4q12 4q12 614626 SNORA26 Small nucleolar RNA, H/ACA box, 26 SNORA26 677810 ENSG00000212588 -chr4 52862316 52866834 4q12 4q12 612404 RASL11B RAS-like, family 11, member B RASL11B 65997 ENSG00000128045 Rasl11b (MGI:1916189) -chr4 53377640 53462582 4q12 4q12 607686 FIP1L1 Fip1-like 1 FIP1L1 81608 ENSG00000145216 fused to PDGFRA in hypereosinophilic syndrome Fip1l1 (MGI:1914149) -chr4 53458263 53652524 4q12 4q12 609732 LNX1, LNX, PDZRN2 Ligand of numb protein X1 LNX1 84708 ENSG00000072201 Lnx1 (MGI:1278335) -chr4 53996334 54064689 4q11-q12 4q12 604332 CHIC2, BTL Cysteine-rich hydrophobic domain 2 (Brx-like gene translocated in leukemia) CHIC2 26511 ENSG00000109220 {Leukemia, acute myeloid}, 601626 (3), Somatic mutation, Autosomal dominant Chic2 (MGI:1921527) -chr4 54100162 54102497 4q12 4q12 616253 GSX2, GSH2, DMJDS2 GS homeobox 2 GSX2 170825 ENSG00000180613 Diencephalic-mesencephalic junction dysplasia syndrome 2, 618646 (3), Autosomal recessive Gsx2 (MGI:95843) -chr4 54229126 54298244 4q12 4q12 173490 PDGFRA Platelet-derived growth factor receptor, alpha polypeptide PDGFRA 5156 ENSG00000134853 same 700bp segment as KIT; fused to BCR or FIP1L1 Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, 175510 (3); Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3), Somatic mutation, Isolated cases Pdgfra (MGI:97530) -chr4 54657956 54740714 4q12 4q12 164920 KIT, PBT, MASTC Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene KIT 3815 ENSG00000157404 same 700bp segment as PDGFRA Gastrointestinal stromal tumor, familial, 606764 (3), Autosomal dominant, Isolated cases; Mastocytosis, cutaneous, 154800 (3), Autosomal dominant; Piebaldism, 172800 (3), Autosomal dominant; Germ cell tumors, somatic, 273300 (3); Mastocytosis, systemic, somatic, 154800 (3); Leukemia, acute myeloid, somatic, 601626 (3) Kit (MGI:96677) -chr4 55078480 55125594 4q12 4q12 191306 KDR Kinase insert domain receptor KDR 3791 ENSG00000128052 ?mutant in TAPVR1 {Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant; Hemangioma, capillary infantile, somatic, 602089 (3) Kdr (MGI:96683) -chr4 55346227 55373099 4q12 4q12 611715 SRD5A3, SRD5A2L, CDG1Q, KRIZI Steroid 5-alpha-reductase 3 SRD5A3 79644 ENSG00000128039 Kahrizi syndrome, 612713 (3), Autosomal recessive; Congenital disorder of glycosylation, type Iq, 612379 (3), Autosomal recessive Srd5a3 (MGI:1930252) -chr4 55395652 55453396 4q12 4q12 614726 TMEM165, FT27, CDG2K Transmembrane protein 165 TMEM165 55858 ENSG00000134851 Congenital disorder of glycosylation, type IIk, 614727 (3), Autosomal recessive Tmem165 (MGI:894407) -chr4 55427902 55547137 4q12 4q12 601851 CLOCK Circadian locomotor output cycles kaput CLOCK 9575 ENSG00000134852 Clock (MGI:99698) -chr4 55556518 55592273 4q11 4q12 611676 PDCL2 Phosducin-like 2 PDCL2 132954 ENSG00000163440 Pdcl2 (MGI:1890655) -chr4 55595230 55636792 4q12 4q12 605103 NMU Neuromedin U NMU 10874 ENSG00000109255 Nmu (MGI:1860476) -chr4 55853647 55905085 4q12 4q12 607879 EXOC1, SEC3 Exocyst complex component 1 EXOC1 55763 ENSG00000090989 Exoc1 (MGI:2445020) -chr4 55948807 56033360 4q12 4q12 611423 CEP135, KIAA0635, MCPH8 Centrosomal protein, 135kD CEP135 9662 ENSG00000174799 Microcephaly 8, primary, autosomal recessive, 614673 (3), Autosomal recessive Cep135 (MGI:2681869) -chr4 56049097 56330621 4q12 4q12 618327 CRACD, KIAA1211 Capping protein inhibiting regulator of actin dynamics CRACD 57482 ENSG00000109265 Cracd (MGI:2444817) -chr4 56337686 56389417 4q12 4q12 614365 AASDH, ACSF4 Aminoadipate-semialdehyde dehydrogenase AASDH 132949 ENSG00000157426 Aasdh (MGI:2442517) -chr4 56393361 56435614 4q12 4q12 172450 PPAT, GPAT Phosphoribosylpyrophosphate amidotransferase PPAT 5471 ENSG00000128059 Ppat (MGI:2387203) -chr4 56410506 56464577 4q12 4q12 172439 PAICS, AIRC Phosphoribosylaminoimidazole carboxylase PAICS 10606 ENSG00000128050 bifunctional enzyme; ade-D; 625bp from PPAT Paics (MGI:1914304) -chr4 56467616 56503680 4q12 4q12 602122 SRP72, BMFS1 Signal recognition particle, 72kD SRP72 6731 ENSG00000174780 Bone marrow failure syndrome 1, 614675 (3), Autosomal dominant Srp72 (MGI:1333795) -chr4 56505208 56524452 4q12 4q12 612405 ARL9 ADP ribosylation factor-like GTPase 9 ARL9 132946 ENSG00000196503 Arl9 (MGI:1915496) -chr4 56647991 56681865 4q11-q12 4q12 607275 HOPX, HOP HOP homeobox HOPX 84525 ENSG00000171476 Hopx (MGI:1916782) -chr4 56809859 56822209 4q12 4q12 605753 SPINK2, SPGF29 Serine protease inhibitor, Kazal-type, 2 SPINK2 6691 ENSG00000128040 mutation identified in 1 SPGF29 family ?Spermatogenic failure 29, 618091 (3), Autosomal recessive Spink2 (MGI:1917232) -chr4 56907899 56935846 4q12 4q12 600571 REST, NRSF, WT6, GINGF5, HGF5, DFNA27 RE1-silencing transcription factor REST 5978 ENSG00000084093 mutation identified in one DFNA27 family ?Deafness, autosomal dominant 27, 612431 (3), Autosomal dominant; {Wilms tumor 6, susceptibility to}, 616806 (3), Autosomal dominant; Fibromatosis, gingival, 5, 617626 (3), Autosomal dominant Rest (MGI:104897) -chr4 56963349 56977605 4q12 4q12 614919 NOA1, C4orf14 Nitric oxide-associated protein 1 NOA1 84273 ENSG00000084092 Noa1 (MGI:1914306) -chr4 56978895 57031157 4q12 4q12 180661 POL2RB Polymerase (RNA) II (DNA directed) polypeptide B, 140kD POLR2B 5431 ENSG00000047315 Polr2b (MGI:2388280) -chr4 57030772 57110384 4q12 4q12 602867 IGFBP7, MAC25, RAMSVPS Insulin-like growth factor-binding protein-7 IGFBP7 3490 ENSG00000163453 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3), Autosomal recessive Igfbp7 (MGI:1352480) -chr4 61200325 62078334 4q13.1 4q13.1 616417 ADGRL3, LPHN3, CIRL3, CL3, LEC3, KIAA0768 Adhesion G protein-coupled receptor L3 ADGRL3 23284 ENSG00000150471 Adgrl3 (MGI:2441950) -chr4 64276297 64409509 4q13.1 4q13.1 617242 TECRL, TERL, SRD5A2L2, GPSN2L, CPVT3 Trans-2,3-enoyl-CoA reductase-like protein TECRL 253017 ENSG00000205678 Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3), Autosomal recessive Tecrl (MGI:2444966) -chr4 65319566 65670488 4q13 4q13.1-q13.2 600004 EPHA5, TYRO4, HEK7 Ephrin receptor EphA5 EPHA5 2044 ENSG00000145242 Epha5 (MGI:99654) -chr4 65500000 87100000 4q13.2-q21.3 611630 ETL3, FMTLE Epilepsy, familial temporal lobe, 3 100188848 max lod at D4S1517 Epilepsy, familial temporal lobe, 3, 611630 (2), Autosomal dominant -chr4 67468761 67545502 4q12-q13.3 4q13.2 117141 CENPC1, CENPC Centromere autoantigen C1 CENPC 1060 ENSG00000145241 ?pseudogene on chr.12 Cenpc1 (MGI:99700) -chr4 67558726 67607336 4q13.2 4q13.2 604298 STAP1, BRDG1 Signal transducing adaptor family member 1 STAP1 26228 ENSG00000035720 Stap1 (MGI:1926193) -chr4 67612651 67701154 4q13.2 4q13.2 611361 UBA6, UBE1L2 Ubiquitin activating enzyme 6 UBA6 55236 ENSG00000033178 Uba6 (MGI:1913894) -chr4 67737117 67754387 4q21.2 4q13.2 138850 GNRHR, LHRHR, HH7 Gonadotropin-releasing hormone receptor GNRHR 2798 ENSG00000109163 placed at 4q12 or 4q13 by some Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3), Autosomal recessive Gnrhr (MGI:95790) -chr4 67820875 67885062 4q13.2 4q13.2 605369 TMPRSS11D, HAT Transmembrane protease, serine 11D TMPRSS11D 9407 ENSG00000153802 Tmprss11d (MGI:2385221) -chr4 67909394 67963492 4q13.2 4q13.2 611704 TMPRSS11A, ECRG1 Transmembrane protease, serine 11A TMPRSS11A 339967 ENSG00000187054 Tmprss11a (MGI:2684853) -chr4 68038415 68042510 4q12 4q13.2 608311 GCOM2, GRINL1B GRINL1B complex locus 2 POLR2MP1 339970 -chr4 68060609 68063296 4q13.2 4q13.2 610892 SYT14L, SYTDEP, CHR415SYT Synaptotagmin 14-like protein SYT14P1 401135 -chr4 68310386 68350092 4q13.2 4q13.2 617283 YTHDC1, KIAA1966 TYH domain-containing protein 1 YTHDC1 91746 ENSG00000083896 Ythdc1 (MGI:2443713) -chr4 68447462 68497603 4q13.2 4q13.2 610399 TMPRSS11E, DESC1 Transmembrane protease, serine 11E TMPRSS11E 28983 ENSG00000087128 Tmprss11e (MGI:3513175) -chr4 68537172 68576321 4q13 4q13.2 601903 UGT2B17, BMND12 UDP-glucuronyltransferase, family 2, beta-17 UGT2B17 7367 ENSG00000197888 {Bone mineral density QTL 12, osteoporosis}, 612560 (3) Ugt2b1,Ugt2b38,Ugt2b37,Ugt2b36,Ugt2b35,Ugt2b5 (MGI:2148239,MGI:1919023,MGI:2140794,MGI:3576103,MGI:98900,MGI:3576100) -chr4 68646596 68670651 4q13 4q13.2 600069 UGT2B15, UGT2B8 UDP-glucuronyltransferase, family 2, beta-15 UGT2B15 7366 ENSG00000196620 Ugt2b1,Ugt2b38,Ugt2b37,Ugt2b36,Ugt2b35,Ugt2b5 (MGI:2148239,MGI:1919023,MGI:2140794,MGI:3576103,MGI:98900,MGI:3576100) -chr4 68815993 68832037 4q13.2 4q13.2 600070 UGT2B10 Uridine diphosphate glycosyltransferase 2 family, member B10 UGT2B10 7365 ENSG00000109181 Ugt2b1,Ugt2b34 (MGI:1919023,MGI:2140962) -chr4 68928459 68951803 4q13 4q13.2 616382 UGT2A3 Uridine diphosphate glucuronosyltransferase 2 family, member A3 UGT2A3 79799 ENSG00000135220 Ugt2a3 (MGI:1919344) -chr4 69051374 69112986 4q13 4q13.2 600068 UGT2B7, UGT2B9 UDP-glucuronyltransferase, family 2, beta-7 UGT2B7 7364 ENSG00000171234 Ugt2b1,Ugt2b34 (MGI:1919023,MGI:2140962) -chr4 69199950 69224979 4q13.2 4q13.2 603064 UGT2B11 Uridine diphosphate glycosyltransferase 2 family, member B11 UGT2B11 10720 ENSG00000213759 Ugt2b1,Ugt2b34 (MGI:1919023,MGI:2140962) -chr4 69280428 69295049 4q13.2 4q13.2 606497 UGT2B28 Uridine diphosphate glycosyltransferase 2 family, member B28 UGT2B28 54490 ENSG00000135226 Ugt2b1,Ugt2b34 (MGI:1919023,MGI:2140962) -chr4 69400000 87100000 4q13-q21 609400 AIS4, VAMAS5 Autoimmune disease, susceptibility to, 4 619405 between D4S392 and D4S3042 {Autoimmune disease, susceptibility to, 4}, 609400 (2) -chr4 69480164 69526013 4q13 4q13.3 600067 UGT2B4, UGT2B11 UDP-glucuronyltransferase, family 2, beta-4 UGT2B4 7363 ENSG00000156096 cluster in order B7--B4--B15 in 195kb Ugt2b1,Ugt2b34 (MGI:1919023,MGI:2140962) -chr4 69588416 69653246 4q13 4q13.3 604716 UGT2A1 Uridine diphosphate glycosyltransferase 2 family, member A1 UGT2A1 10941 ENSG00000173610 Ugt2a1 (MGI:2149905) -chr4 69721166 69760643 4q13.3 4q13.3 608436 SULT1B1, ST1B2 Sulfotransferase family 1B, member 1 SULT1B1 27284 ENSG00000173597 Sult1b1 (MGI:2136282) -chr4 69841211 69860150 4q13.1 4q13.3 600043 STE, EST Sulfotransferase, estrogen-preferring SULT1E1 6783 ENSG00000109193 Sult1e1 (MGI:98431) -chr4 69931061 69946573 4q21.1 4q13.3 115450 CSN1 Casein, alpha CSN1S1 1446 ENSG00000126545 Csn1s1 (MGI:88540) -chr4 69955255 69965727 4q21.1 4q13.3 115460 CSN2 Casein, beta CSN2 1447 ENSG00000135222 Csn2 (MGI:88541) -chr4 69995965 70002569 4q11-q13 4q13.3 184470 STATH Statherin STATH 6779 ENSG00000126549 -chr4 70028458 70036537 4q13 4q13.3 142702 HTN3, HTN2, HIS2 Histatin-3 HTN3 3347 ENSG00000205649 -chr4 70050437 70058847 4q13 4q13.3 142701 HTN1 Histatin-1 HTN1 3346 ENSG00000126550 3 genes in a 15kb segment -chr4 70195724 70204575 4q13.3 4q13.3 614843 ODAM, APIN Odontogenic ameloblast-associated protein ODAM 54959 ENSG00000109205 Odam (MGI:1916842) -chr4 70226123 70235251 4q13.3 4q13.3 607241 FDCSP, C4orf7 Follicular dendritic cell secreted protein FDCSP 260436 ENSG00000181617 -chr4 70238380 70251431 4q13-q21 4q13.3 601695 CSN3, CNS10, CSNK Casein, kappa CSN3 1448 ENSG00000171209 Csn3 (MGI:107461) -chr4 70334980 70337115 14q13.3 4q13.3 618600 CABS1, CLPH, C4orf35 Calcium-binding protein, spermatid-associated 1 CABS1 85438 ENSG00000145309 Cabs1 (MGI:1918227) -chr4 70360759 70367157 4q13.3 4q13.3 618340 SMR3A, PBI Submaxillary gland androgen-regulated protein 3A SMR3A 26952 ENSG00000109208 Smr3a (MGI:102763) -chr4 70383130 70390243 4q13.3 4q13.3 611593 SMR3B, SMR1B, PRL3, PBII Submaxillary gland androgen-regulated protein 3, mouse, homolog of, B SMR3B 10879 ENSG00000171201 -chr4 70397939 70410194 4q13.3 4q13.3 608936 PROL1, PRL1, BPLP Proline-rich lacrimal protein 1 OPRPN 58503 ENSG00000171199 C5ar1 (MGI:88232) -chr4 70430491 70482996 4q13-q21 4q13.3 158375 MUC7 Mucin 7, salivary MUC7 4589 ENSG00000171195 {Asthma, protection against}, 600807 (3), Autosomal dominant -chr4 70518568 70532742 4q13.3 4q13.3 610912 AMTN, AI3B Amelotin AMTN 401138 ENSG00000187689 mutation identified in 1 AI3B family ?Amelogenesis imperfecta, type IIIB, 617607 (3), Autosomal dominant Amtn (MGI:1918671) -chr4 70592255 70607287 4q21 4q13.3 601259 AMBN, AI1F Ameloblastin AMBN 258 ENSG00000178522 mutation identified in 1 AI1F family Amelogenesis imperfecta, type IF, 616270 (3), Autosomal recessive Ambn (MGI:104655) -chr4 70627470 70646823 4q21 4q13.3 606585 ENAM, AIH2, AI1C Enamelin ENAM 10117 ENSG00000132464 Amelogenesis imperfecta, type IC, 204650 (3), Autosomal recessive; Amelogenesis imperfecta, type IB, 104500 (3), Autosomal dominant Enam (MGI:1333772) -chr4 70655540 70666507 4q21 4q13.3 147790 JCHAIN, IGJ Joining chain of multimeric IgA and IgM JCHAIN 3512 ENSG00000132465 Jchain (MGI:96493) -chr4 70688531 70690550 4q21 4q13.3 611614 UTP3, CRL1, CRLZ1 UTP3 small subunit processome component UTP3 57050 ENSG00000132467 Utp3 (MGI:1919230) -chr4 70704203 70808618 4q13.3 4q13.3 611194 RUFY3, SINGAR1, RIPX FUN and FYVE domains-containing protein 3 RUFY3 22902 ENSG00000018189 Rufy3 (MGI:106484) -chr4 70815782 70843273 4q13 4q13.3 604851 GRSF1 G-rich RNA sequence-binding factor 1 GRSF1 2926 ENSG00000132463 Grsf1 (MGI:106479) -chr4 70901969 70988173 4q13.3 4q13.3 609282 MOB1B, MOBKL1A, MATS2 MOB kinase activator 1B MOB1B 92597 ENSG00000173542 Mob1b (MGI:1915723) -chr4 70993648 71030913 4q13.3-q21.1 4q13.3 125450 DCK Deoxycytidine kinase DCK 1633 ENSG00000156136 Dck (MGI:102726) -chr4 71062645 71572082 4q21 4q13.3 603345 SLC4A4, NBC1, KNBC Solute carrier family 4, sodium bicarbonate cotransporter, member 4 SLC4A4 8671 ENSG00000080493 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3), Autosomal recessive Slc4a4 (MGI:1927555) -chr4 71741692 71805519 4q12 4q13.3 139200 GC, DBP Group-specific component (vitamin D-binding protein) GC 2638 ENSG00000145321 4q13-q21.1 by in situ hybridization Gc (MGI:95669) -chr4 72031999 72148304 4q13.3 4q13.3 607449 NPFFR2, GPR74, NPFF2, NPGPR Neuropeptide FF receptor 2 NPFFR2 10886 ENSG00000056291 Npffr2 (MGI:1860130) -chr4 72280968 72569220 4q21 4q13.3 605011 ADAMTS3, HKLLS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3 ADAMTS3 9508 ENSG00000156140 Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3), Autosomal recessive Adamts3 (MGI:3045353) -chr4 73052361 73069776 4q21.1 4q13.3 610428 COX18 Cytochrome c oxidase assembly protein COX18 COX18 285521 ENSG00000163626 Cox18 (MGI:2448532) -chr4 73073375 73259765 4q13.3 4q13.3 615929 ANKRD17, GTAR Ankyrin repeat domain-containing protein 17 ANKRD17 26057 ENSG00000132466 Ankrd17 (MGI:1932101) -chr4 73404286 73421481 4q11-q13 4q13.3 103600 ALB, ANALBA, FDAH, FDAHT Albumin ALB 213 ENSG00000163631 mutation identified in 1 FDAHT family ?[Dysalbuminemic hypertriiodothyroninemia], 615999 (3), Autosomal dominant, Autosomal recessive; Analbuminemia, 616000 (3), Autosomal recessive; [Dysalbuminemic hyperthyroxinemia], 615999 (3), Autosomal dominant, Autosomal recessive Alb (MGI:87991) -chr4 73436220 73456173 4q11-q13 4q13.3 104150 AFP, HPAFP, AFPD Alpha-fetoprotein AFP 174 ENSG00000081051 order: 5'-ALB-3'--5'-AFP-3' [Hereditary persistence of alpha-fetoprotein], 615970 (3), Autosomal dominant; Alpha-fetoprotein deficiency, 615969 (3), Autosomal recessive Afp (MGI:87951) -chr4 73481744 73504000 4q11-q13 4q13.3 104145 AFM, ALBA, ALB2 Afamin AFM 173 ENSG00000079557 10kb 3' of AFP Afm (MGI:2429409) -chr4 73571549 73620630 4q13.3 4q13.3 612620 RASSF6 Ras association domain family, member 6 RASSF6 166824 ENSG00000169435 Rassf6 (MGI:1920496) -chr4 73740568 73743715 4q13.3 4q13.3 146930 CXCL8, IL8, SCYB8, NAP1, GCP1 Chemokine, CXC motif, ligand 8 CXCL8 3576 ENSG00000169429 -chr4 73836677 73838759 4q12-q13 4q13.3 138965 CXCL6, SCYB6, GCP2 Chemokine, C-X-C motif, ligand 6 (granulocyte chemotactic protein-2) CXCL6 6372 ENSG00000124875 Cxcl5 (MGI:1096868) -chr4 73848735 73849252 4q12-q13 4q13.3 188035 PPBPP1, PPBPL1, TGB2 Pro-platelet basic protein pseudogene 1 PPBPP1 728045 -chr4 73853295 73854482 4q12-q13 4q13.3 173461 PF4V1 Platelet factor 4, variant 1 (PF4-like) PF4V1 5197 ENSG00000109272 same region as PF4 and IP10 Pf4 (MGI:1888711) -chr4 73869392 73871307 4q12-q13 4q13.3 155730 CXCL1, GRO1, MGSA Chemokine, C-X-C, ligand 1 (GRO1 oncogene; melanoma growth stimulating activity, alpha) CXCL1 2919 ENSG00000163739 apparently cluster of 3 GRO genes Cxcl2,Cxcl3 (MGI:1340094,MGI:3037818) -chr4 73980810 73982123 4q12-q13 4q13.3 173460 PF4 Platelet factor 4 PF4 5196 ENSG00000163737 6kb from PF4V1 Pf4 (MGI:1888711) -chr4 73986438 73988189 4q12-q13 4q13.3 121010 PPBP, CXCL7, SCYB7, CTAP3, TGB Pro-platelet basic protein PPBP 5473 ENSG00000163736 less than 7kb from PF4 Ppbp (MGI:1888712) -chr4 73995641 73998676 4q12-q13 4q13.3 600324 CXCL5, SCYB5, ENA78 Chemokine, C-X-C motif, ligand 5 (epithelial-derived neutrophil-activating peptide 78) CXCL5 6374 ENSG00000163735 Cxcl5 (MGI:1096868) -chr4 74036588 74038688 4q12-q13 4q13.3 139111 CXCL3, GRO3, MIP2B Chemokine, C-X-C motif, ligand 3 (GRO3 oncogene) CXCL3 2921 ENSG00000163734 Cxcl2,Cxcl3 (MGI:1340094,MGI:3037818) -chr4 74054037 74055398 4q13.3 4q13.3 611591 PPBPP2, PPBPL2 Pro-platelet basic protein pseudogene 2 PPBPP2 10895 ENSG00000248848 -chr4 74097039 74099194 4q12-q13 4q13.3 139110 CXCL2, GRO2, MIP2A Chemokine, C-X-C motif, ligand 2 (GRO2 oncogene) CXCL2 2920 ENSG00000081041 Cxcl1,Cxcl2,Cxcl3 (MGI:108068,MGI:1340094,MGI:3037818) -chr4 74123272 74303098 4q13.3 4q13.3 614047 MTHFD2L Methylenetetrahydrofolate dehydrogenase 2-like, NADP(+)-dependent MTHFD2L 441024 ENSG00000163738 Mthfd2l (MGI:1915871) -chr4 74307584 74316788 4q21 4q13.3 618717 EPGN, EPG Epithelial mitogen EPGN 255324 ENSG00000182585 Epgn (MGI:1919170) -chr4 74365144 74388748 4q13.3 4q13.3 602061 EREG Epiregulin EREG 2069 ENSG00000124882 Ereg (MGI:107508) -chr4 74445135 74455004 4q13-q21 4q13.3 104640 AREG Amphiregulin AREG 374 ENSG00000109321 Areg (MGI:88068) -chr4 74744758 74794717 4q13-q21 4q13.3 600345 BTC Betacellulin BTC 685 ENSG00000174808 tightly linked to Areg in mouse Btc (MGI:99439) -chr4 74933115 75050112 4q13.3 4q13.3 617688 PARM1, CIPAR1 Prostate androgen-regulated mucin-like protein 1 PARM1 25849 ENSG00000169116 Parm1 (MGI:2443349) -chr4 75479032 75514714 4q21.1 4q21.1 607680 RCHY1, ZNF363, PIRH2, ARNIP Ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase RCHY1 25898 ENSG00000163743 Rchy1 (MGI:1915348) -chr4 75513943 75547327 4q21.1 4q21.1 612535 THAP6 THAP domain-containing protein 6 THAP6 152815 ENSG00000174796 -chr4 75554996 75565892 4q21.1 4q21.1 614829 ODAPH, C4orf26 Odontogenesis-associated phosphoprotein ODAPH 152816 ENSG00000174792 Amelogenesis imperfecta, type IIA4, 614832 (3), Autosomal recessive Odaph (MGI:2685891) -chr4 75576493 75630527 4q21.1 4q21.1 603442 CDKL2, KKIAMRE, P56 Cyclin-dependent kinase-like 2 CDKL2 8999 ENSG00000138769 Cdkl2 (MGI:1858227) -chr4 75724521 75814285 4q21.1 4q21.1 603344 USO1, TAP, p115 USO1 vesicle transport factor USO1 8615 ENSG00000138768 Uso1 (MGI:1929095) -chr4 75859866 75902451 4q21.1 4q21.1 602256 PPEF2 Protein phosphatase, EF hand calcium-binding domain-2 PPEF2 5470 ENSG00000156194 Ppef2 (MGI:1342304) -chr4 75910654 75941012 4q21.1 4q21.1 607469 NAAA, ASAHL N-acylethanolamine acid amidase NAAA 27163 ENSG00000138744 Naaa (MGI:1914361) -chr4 76001274 76007508 4q21 4q21.1 601704 CXCL9, MIG, SCYB9 Chemokine, C-X-C motif, ligand 9 CXCL9 4283 ENSG00000138755 close to INP10 Cxcl9 (MGI:1352449) -chr4 76011167 76112790 4q21.1 4q21.1 603086 ART3 ADP-ribosyltransferase 3 ART3 419 ENSG00000156219 Art3 (MGI:1202729) -chr4 76021117 76023496 4q21 4q21.1 147310 CXCL10, INP10 Chemokine, C-X-C motif, ligand 10 (interferon-inducible cytokine IP-10) CXCL10 3627 ENSG00000169245 ?involved in monocytic leukemia with t(4;11)(q21;q23) Cxcl10 (MGI:1352450) -chr4 76033681 76036069 4q21.2 4q21.1 604852 CXCL11, SCYB11, IP9, SCYB9B Chemokine, C-X-C motif, ligand 11 CXCL11 6373 ENSG00000169248 Cxcl11 (MGI:1860203) -chr4 76114663 76148433 4q21.1 4q21.1 607607 NUP54 Nucleoporin, 54kD NUP54 53371 ENSG00000138750 Nup54 (MGI:1920460) -chr4 76158736 76213823 4q13-q21 4q21.1 602257 SCARB2, CD36L2, LIMPII, AMRF, EPM4 Scavenger receptor class B, member 2 SCARB2 950 ENSG00000138760 Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3), Autosomal recessive Scarb2 (MGI:1196458) -chr4 76306732 76311129 4q25-q34 4q21.1 607406 GENEX3414 Genethonin 1 STBD1 8987 ENSG00000118804 Stbd1 (MGI:1261768) -chr4 76435228 76783252 4q21.1 4q21.1 604570 SHROOM3, SHRM, KIAA1481 Shroom family member 3 SHROOM3 57619 ENSG00000138771 Shroom3 (MGI:1351655) -chr4 76949751 77040153 4q21.1 4q21.1 612887 SEPT11 Septin 11 SEPTIN11 55752 ENSG00000138758 Septin11 (MGI:1277214) -chr4 77047154 77075988 4q21.1 4q21.1 618783 CCNI Cyclin I CCNI 10983 ENSG00000118816 Ccni (MGI:1341077) -chr4 77157206 77170059 4q21.1 4q21.1 603203 CCNG2 Cyclin G2 CCNG2 901 ENSG00000138764 Ccng2 (MGI:1095734) -chr4 77511752 77611833 4q21 4q21.1 605149 CXCL13, SCYB13, BCA1, BLC Chemokine, C-X-C motif, ligand 13 CXCL13 10563 ENSG00000156234 Cxcl13 (MGI:1888499) -chr4 77713386 77820268 4q21.1 4q21.1 618069 CNOT6L, CCR4B CCR4-NOT transcription complex, subunit 6-like CNOT6L 246175 ENSG00000138767 Cnot6l (MGI:2443154) -chr4 77862679 77952789 4q21.1 4q21.1 611821 MRPL1 Mitochondrial ribosomal protein L1 MRPL1 65008 ENSG00000169288 Mrpl1 (MGI:2137202) -chr4 78057322 78544268 4q21 4q21.21 607830 FRAS1, FRASRS1 Fraser extracellular matrix complex subunit 1 FRAS1 80144 ENSG00000138759 Fraser syndrome 1, 219000 (3), Autosomal recessive Fras1 (MGI:2385368) -chr4 78551760 78610446 4q21 4q21.21 106490 ANXA3, ANX3 Annexin A3 (lipocortin III) ANXA3 306 ENSG00000138772 Anxa3 (MGI:1201378) -chr4 78776349 78916364 4q21.21 4q21.21 617648 BMP2K, BIKE BMP2-inducible kinase BMP2K 55589 ENSG00000138756 Bmp2k (MGI:2155456) -chr4 78887224 78939437 4q21.21 4q21.21 614577 PAQR3, RKTG Progestin and ADIPOQ receptor family, member 3 PAQR3 152559 ENSG00000163291 Paqr3 (MGI:2679683) -chr4 79155236 79326060 4q21.23 4q21.21 619432 NAA11, ARD2, ARD1B N-alpha-acetyltransferase 11, NatA catalytic subunit NAA11 84779 ENSG00000156269 Naa11 (MGI:2141314) -chr4 79827470 79863246 4q21.1 4q21.21 609717 PCAT4, GDEP Prostate cancer-associated transcript 4 PCAT4 118425 ENSG00000251321 -chr4 79901145 80073471 4q21 4q21.21 608041 ANTXR2, CMG2, HFS Anthrax toxin receptor 2 ANTXR2 118429 ENSG00000163297 Hyaline fibromatosis syndrome, 228600 (3), Autosomal recessive Antxr2 (MGI:1919164) -chr4 80183417 80204328 4q21.21 4q21.21 616639 PRDM8, EPM10 PR domain-containing protein 8 PRDM8 56978 ENSG00000152784 mutation identified in 1 EPM10 family ?Epilepsy, progressive myoclonic, 10, 616640 (3), Autosomal recessive Prdm8 (MGI:1924880) -chr4 80266587 80291016 4q21 4q21.21 165190 FGF5, TCMGLY Fibroblast growth factor-5 FGF5 2250 ENSG00000138675 Trichomegaly, 190330 (3), Autosomal recessive Fgf5 (MGI:95519) -chr4 81030707 81057626 4p14-q21 4q21.21 112263 BMP3 Bone morphogenetic protein-3 BMP3 651 ENSG00000152785 Bmp3 (MGI:88179) -chr4 81087369 81217836 4q13.1-q21.1 4q21.21 601591 PRKG2, PRKGR2 Protein kinase, cGMP-dependent, type II PRKG2 5593 ENSG00000138669 Prkg2 (MGI:108173) -chr4 81426392 81471906 4q12-q21 4q21.21 614532 RASGEF1B, GPIG4 RASGEF domain family, member 1B RASGEF1B 153020 ENSG00000138670 Rasgef1b (MGI:2443755) -chr4 82352497 82373990 4q21.1-q21.2 4q21.22 601324 HNRPD, AUF1, AUF1A Heterogeneous nuclear ribonucleoprotein D HNRNPD 3184 ENSG00000138668 Hnrnpd (MGI:101947) -chr4 82422563 82430461 4q21.33 4q21.22 607137 HNRNPDL, HNRPDL, JKTBP, LGMDD3 Heterogeneous nuclear ribonucleoprotein D-like protein HNRNPDL 9987 ENSG00000152795 Muscular dystrophy, limb-girdle, autosomal dominant 3, 609115 (3), Autosomal dominant Hnrnpdl (MGI:1355299) -chr4 82483175 82562252 4q21.22 4q21.22 617292 TMEM150C, TTN3 Transmembrane protein 150C TMEM150C 441027 ENSG00000249242 Tmem150c (MGI:3041258) -chr4 82629538 82798795 4q21.1 4q21.22 608370 SCD5, ACOD4, DFNA79 Stearoyl-CoA desaturase 5 SCD5 79966 ENSG00000145284 mutation identified in 1 DFNA79 family ?Deafness, autosomal dominant 79, 619086 (3), Autosomal dominant Scd3,Scd1 (MGI:1353437,MGI:98239) -chr4 82818508 82900568 4q21.22 4q21.22 610257 SEC31A, SEC31L1, KIAA0905, NEDSOSB SEC31 homolog A, COPII coat complex component SEC31A 22872 ENSG00000138674 mutation identified in 1 NEDSOSB family ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, 618651 (3), Autosomal recessive Sec31a (MGI:1916412) -chr4 82900683 82920282 4q21.22 4q21.22 612537 THAP9 THAP domain-containing protein 9 THAP9 79725 ENSG00000168152 -chr4 82924602 83012950 4q21.22 4q21.22 613367 LIN54 Lin54, C. elegans, homolog of LIN54 132660 ENSG00000189308 Lin54 (MGI:2140902) -chr4 83035182 83075817 4q21.22 4q21.22 616008 COPS4, CSN4 COP9 signalosome, subunit 4 COPS4 51138 ENSG00000138663 Cops4 (MGI:1349414) -chr4 83090047 83114728 4q21 4q21.22 607515 PLAC8 Placenta-specific gene 8 PLAC8 51316 ENSG00000145287 Plac8 (MGI:2445289) -chr4 83263823 83285133 4q21-q22 4q21.23 609825 COQ2, COQ10D1, MSA1 Coenzyme Q2, polyprenyltransferase COQ2 27235 ENSG00000173085 {Multiple system atrophy, susceptibility to}, 146500 (3), Autosomal dominant, Autosomal recessive; Coenzyme Q10 deficiency, primary, 1, 607426 (3), Autosomal recessive Coq2 (MGI:1919133) -chr4 83292460 83335152 4q21.3 4q21.23 604724 HPSE, HSE1, HPA Heparanase HPSE 10855 ENSG00000173083 Hpse (MGI:1343124) -chr4 83407345 83455882 4q21.23 4q21.23 606769 HELQ, HEL308 Helicase, POLQ-like HELQ 113510 ENSG00000163312 Helq (MGI:2176740) -chr4 83456057 83462297 4q21.23 4q21.23 611983 MRPS18C, MRPS18-1 Mitochondrial ribosomal protein S18C MRPS18C 51023 ENSG00000163319 6 pseudogenes Mrps18c (MGI:1915985) -chr4 83459516 83485136 4q21.2 4q21.23 611143 FAM175A, CCDC98, ABRAXAS, ABRA1 Family with sequence similarity 175, member A ABRAXAS1 84142 ENSG00000163322 Abraxas1 (MGI:1917931) -chr4 83535633 83605874 4q21.23 4q21.23 610958 AGPAT9, GPAT3, MAG1 1-acylglycerol-3-phosphate O-acyltransferase 9 GPAT3 84803 ENSG00000138678 Gpat3 (MGI:3603816) -chr4 84491984 84499291 4q21.2-q22 4q21.23 602563 NKX6-1, NKX6A NK6, Drosophila, homolog of, 1 NKX6-1 4825 ENSG00000163623 Nkx6-1 (MGI:1206039) -chr4 84582930 84651333 4q21 4q21.23 603548 CDS1 CDP-diacylglycerol synthase 1 CDS1 1040 ENSG00000163624 Cds1 (MGI:1921846) -chr4 84669596 84966689 4q21 4q21.23 617485 WDFY3, ALFY, BCHS, MCPH18 WD repeat- and FYVE domain-containing protein 3 WDFY3 23001 ENSG00000163625 mutation identified in 1 MCPH18 family ?Microcephaly 18, primary, autosomal dominant, 617520 (3), Autosomal dominant Wdfy3 (MGI:1096875) -chr4 85475149 86002665 4q21 4q21.2-q21.3 610586 ARHGAP24, RCGAP72, FILGAP RHO GTPase-activating protein 24 ARHGAP24 83478 ENSG00000138639 Arhgap24 (MGI:1922647) -chr4 86000000 87100000 4q21 613509 DEL4q21, C4DELq21 Chromosome 4q21 deletion syndrome contiguous gene deletion if at least 30 genes Chromosome 4q21 deletion syndrome, 613509 (4), Isolated cases -chr4 86000000 113200000 4q21-q25 134720 FECB Fecundity gene, Boorla, of sheep, homolog of 7892 sheep chr.6 -chr4 86000000 154600000 4q21-q31 608371 OFC4 Orofacial cleft 4 474387 Orofacial cleft 4, 608371 (2) -chr4 86000000 100100000 4q21-q23 609566 PFM3 Parietal foramina 3 619475 maximum lod between D4S2986 and D4S421 Parietal foramina 3, 609566 (2), Autosomal dominant -chr4 86010404 86594624 4q21.3 4q21.3 602897 MAPK10, PRKM10, JNK3 Mitogen-activated protein kinase 10 MAPK10 5602 ENSG00000109339 Mapk10 (MGI:1346863) -chr4 86594306 86815171 4q21.3 4q21.3 600267 PTPN13 Protein tyrosine phosphatase, nonreceptor-type, 13 (APO-1/CD95 (Fas)-associated phosphatase) PTPN13 5783 ENSG00000163629 633bp upstream of JNK3 Ptpn13 (MGI:103293) -chr4 86823467 86849383 4q21.3 4q21.3 613366 SLC10A6, SOAT Solute carrier family 10 (sodium/bile acid cotransporter family), member 6 SLC10A6 345274 ENSG00000145283 Slc10a6 (MGI:1923000) -chr4 86934605 87141038 4q21 4q21.3-q22.1 159557 AFF1, MLLT2, AF4 AF4/FMR2 family, member 1 AFF1 4299 ENSG00000172493 fuses with ALL1 Aff1 (MGI:1100819) -chr4 87100000 92800000 4q22.1 613518 ATOD8 Dermatitis, atopic, 8 105463125 {Dermatitis, atopic, susceptibility to, 8}, 613518 (2) -chr4 87160102 87220617 4q22.1 4q22.1 611967 KLHL8, KIAA1378 Kelch-like 8 KLHL8 57563 ENSG00000145332 Klhl8 (MGI:2179430) -chr4 87303793 87322881 4q22.1 4q22.1 612127 HSD17B13, SCDR9 17-beta-hydroxysteroid dehydrogenase XIII HSD17B13 345275 ENSG00000170509 Hsd17b13 (MGI:2140804) -chr4 87336514 87391251 4q21 4q22.1 612831 HSD17B11, RETSDR2, PAN1B 17-beta-hydroxysteroid dehydrogenase XI HSD17B11 51170 ENSG00000198189 Hsd17b11 (MGI:2149821) -chr4 87420001 87459454 4q22.1 4q22.1 606022 NUDT9 Nudix hydrolase 9 NUDT9 53343 ENSG00000170502 Nudt9 (MGI:1921417) -chr4 87473334 87529375 4q22.1 4q22.1 606041 SPARCL1, HEVIN SPARC-like protein 1 SPARCL1 8404 ENSG00000152583 Sparcl1 (MGI:108110) -chr4 87608528 87616872 4q21.3 4q22.1 125485 DSPP, DPP, DGI1, DFNA39, DTDP2 Dentin sialophosphoprotein DSPP 1834 ENSG00000152591 Dentinogenesis imperfecta, Shields type III, 125500 (3), Autosomal dominant; Dentinogenesis imperfecta, Shields type II, 125490 (3), Autosomal dominant; Dentin dysplasia, type II, 125420 (3), Autosomal dominant; Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3), Autosomal dominant Dspp (MGI:109172) -chr4 87650279 87664356 4q21 4q22.1 600980 DMP1, ARHR, ARHP Dentin matrix acidic phosphoprotein DMP1 1758 ENSG00000152592 Hypophosphatemic rickets, AR, 241520 (3), Autosomal recessive Dmp1 (MGI:94910) -chr4 87799553 87812434 4q21-q25 4q22.1 147563 IBSP Integrin-binding sialoprotein (bone sialoprotein II) IBSP 3381 ENSG00000029559 Ibsp (MGI:96389) -chr4 87821397 87846791 4q21.1 4q22.1 605912 MEPE Matrix, extracellular, phosphoglycoprotein MEPE 56955 ENSG00000152595 Mepe (MGI:2137384) -chr4 87975713 87983410 4q21-q25 4q22.1 166490 SPP1, OPN Secreted phosphoprotein-1 (osteopontin, bone sialoprotein) SPP1 6696 ENSG00000118785 Spp1 (MGI:98389) -chr4 88007634 88077778 4q21-q23 4q22.1 173910 PKD2 Polycystin-2 PKD2 5311 ENSG00000118762 Polycystic kidney disease 2, 613095 (3), Autosomal dominant Pkd2 (MGI:1099818) -chr4 88090263 88231625 4q22 4q22.1 603756 ABCG2, BCRP, ABCP, UAQTL1, GOUT1 ATP-binding cassette, subfamily G, member 2 ABCG2 9429 ENSG00000118777 [Junior blood group system], 614490 (3); [Uric acid concentration, serum, QTL1], 138900 (3), ?Autosomal dominant Abcg3,Abcg2 (MGI:1351624,MGI:1347061) -chr4 88257616 88284669 4q22.1 4q22.1 611065 PPM1K, PP2CM, PTMP, MSUDMV Protein phosphatase, PP2C domain-containing, 1K PPM1K 152926 ENSG00000163644 mutation identified in 1 MSUDMV family ?Maple syrup urine disease, mild variant, 615135 (3) Ppm1k (MGI:2442111) -chr4 88378484 88443096 4q22.1 4q22.1 609249 HERC6 HECT domain and RCC1-like domain 6 HERC6 55008 ENSG00000138642 Herc6 (MGI:1914388) -chr4 88456603 88506169 4q22.2-q22.3 4q22.1 608242 HERC5, CEB1 HECT domain and RCC1-like domain 5 HERC5 51191 ENSG00000138646 -chr4 88520997 88523775 4q22.1 4q22.1 610662 PIGY, HPMRS6 Phosphatidylinositol glycan, class Y PIGY 84992 ENSG00000255072 Hyperphosphatasia with mental retardation syndrome 6, 616809 (3), Autosomal recessive Pyurf,Pigyl (MGI:1913518,MGI:1913709) -chr4 88523842 88709302 4q22.1 4q22.1 605200 HERC3 HECT domain and RCC1-like domain 3 HERC3 8916 ENSG00000138641 Herc3 (MGI:1921248) -chr4 88695912 88697828 4q21-q22 4q22.1 612203 NAP1L5, DRLM Nucleosome assembly protein 1-like 5 NAP1L5 266812 ENSG00000177432 Nap1l5 (MGI:1923555) -chr4 88709788 88730102 4q22.1 4q22.1 613300 FAM13AOS, FAM13A1OS FAM13A opposite strand FAM13A-AS1 285512 ENSG00000248019 overlaps with FAM13A -chr4 88725959 89111397 4q22.1 4q22.1 613299 FAM13A, FAM13A1, KIAA0914 Family with sequence similarity 13, member A FAM13A 10144 ENSG00000138640 overlaps with FAM13AOS Fam13a (MGI:1889842) -chr4 89111168 89114900 4q22.1 4q22.1 612973 TIGD2 TIGGER transposable element-derived gene 2 TIGD2 166815 ENSG00000180346 Tigd2 (MGI:1915390) -chr4 89236382 89307799 4q22.1 4q22.1 611241 GPRIN3, GRIN3 G protein-regulated inducer of neurite outgrowth 3 GPRIN3 285513 ENSG00000185477 Gprin3 (MGI:1924785) -chr4 89724098 89838323 4q21 4q22.1 163890 SNCA, NACP, PARK1, PARK4 Synuclein, alpha (non A4 component of amyloid precursor) SNCA 6622 ENSG00000145335 Dementia, Lewy body, 127750 (3), Autosomal dominant; Parkinson disease 1, 168601 (3), Autosomal dominant; Parkinson disease 4, 605543 (3), Autosomal dominant Snca (MGI:1277151) -chr4 89879510 89954628 4q22.1 4q22.1 601456 MMRN1, ECM Multimerin 1 MMRN1 22915 ENSG00000138722 Mmrn1 (MGI:1918195) -chr4 90127393 91605294 4q22.1 4q22.1 618934 CCSER1, FAM190A Coiled-coil serine-rich protein 1 CCSER1 401145 ENSG00000184305 Ccser1 (MGI:3045354) -chr4 92303621 93810414 4q22 4q22.1-q22.2 602368 GRID2, SCAR18 Glutamate receptor, ionotropic, delta-2 GRID2 2895 ENSG00000152208 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3), Autosomal recessive Grid2 (MGI:95813) -chr4 93828752 93830963 4q22 4q22.2 601461 ATOH1, ATH1 Atonal, Drosophila, homolog of, 1 ATOH1 474 ENSG00000172238 Atoh1 (MGI:104654) -chr4 94200000 97900000 4q22 612343 MUSQTL1 Musical aptitude quantitative trait locus 1 100192307 near D4S423 and D4S2460 [Musical aptitude QTL 1], 612343 (2) -chr4 94200000 122800000 4q22-q27 609994 MYP11 Myopia 11 594832 max lod at D4S1564 Myopia 11, 609994 (2) -chr4 94207607 94291291 4q22-q23 4q22.3 612761 SMARCAD1, KIAA1122, ETL1, HEL1, ADERM, BASNS, HRZ SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily A, DEAD/H box-containing, 1 SMARCAD1 56916 ENSG00000163104 Basan syndrome, 129200 (3), Autosomal dominant; Huriez syndrome, 181600 (3), Autosomal dominant; Adermatoglyphia, 136000 (3), Autosomal dominant Smarcad1 (MGI:95453) -chr4 94298534 94342875 4q21-q22 4q22.3 602598 HPGDS, PGDS Prostaglandin D2 synthase, hematopoietic HPGDS 27306 ENSG00000163106 Hpgds (MGI:1859384) -chr4 94451941 94668222 4q22 4q22.3 605904 ENH Enigma-like LIM domain protein PDLIM5 10611 ENSG00000163110 Pdlim5 (MGI:1927489) -chr4 94757954 95158452 4q23-q24 4q22.3 603248 BMPR1B, ALK6, AMDD, BDA2, BDA1D Bone morphogenetic protein receptor, type IB BMPR1B 658 ENSG00000138696 Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive; Brachydactyly, type A2, 112600 (3), Autosomal dominant; Brachydactyly, type A1, D, 616849 (3), Autosomal dominant Bmpr1b (MGI:107191) -chr4 95162503 95549209 4q21-q23 4q22.3 603610 UNC5C, UNC5H3 unc-5 netrin receptor C UNC5C 8633 ENSG00000182168 Unc5c (MGI:1095412) -chr4 95840092 95841463 4q22-q23 4q22.3 179061 PDHA2 Pyruvate dehydrogenase, E1-alpha polypeptide, testis specific form PDHA2 5161 ENSG00000163114 Pdha2 (MGI:97533) -chr4 97900000 100100000 4q23 603739 BTF3P13, BTF3L3 Basic transcription factor 3 pseudogene 13 BTF3P13 132556 -chr4 98261380 98443857 4q21-q25 4q23 179502 RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 RAP1GDS1 5910 ENSG00000138698 fusion partner with NUP98 in ALL Lymphocytic leukemia, acute T-cell (3) Rap1gds1 (MGI:2385189) -chr4 98470366 98658660 4q23 4q23 613136 TSPAN5, NET4 Tetraspanin 5 TSPAN5 10098 ENSG00000168785 Tspan5 (MGI:1928096) -chr4 98879275 98929132 4q21-q25 4q23 133440 EIF4E, EIF4EL1, AUTS19 Eukaryotic translation initiation factor 4E EIF4E 1977 ENSG00000151247 pseudogene on 20 {Autism, susceptibility to, 19}, 615091 (3) Eif4e (MGI:95305) -chr4 98995692 99063108 4q23 4q23 610151 METAP1, KIAA0094 Methionyl aminopeptidase 1 METAP1 23173 ENSG00000164024 Metap1 (MGI:1922874) -chr4 99070977 99088787 4q21-q25 4q23 103710 ADH5, FDH, AMEDS, BMFS7 Alcohol dehydrogenase (class III), chi polypeptide ADH5 128 ENSG00000197894 AMEDS is digenic with ALDH2 AMED syndrome, digenic, 619151 (3), Digenic recessive Adh5 (MGI:87929) -chr4 99123657 99144296 4q22 4q23 103740 ADH4 Alcohol dehydrogenase (class II), pi polypeptide ADH4 127 ENSG00000198099 Adh4 (MGI:1349472) -chr4 99202638 99219245 4q23-q24 4q23 103735 ADH6 Alcohol dehydrogenase 6 (aldehyde reductase) ADH6 130 ENSG00000172955 Adh6b (MGI:2446626) -chr4 99276368 99290984 4q22 4q23 103700 ADH1A, ADH1 Alcohol dehydrogenase IA (class I), alpha polypeptide ADH1A 124 ENSG00000187758 Adh1 (MGI:87921) -chr4 99304970 99321400 4q22 4q23 103720 ADH1B, ADH2 Alcohol dehydrogenase IB (class I), beta polypeptide ADH1B 125 ENSG00000196616 {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3), Multifactorial; {Alcohol dependence, protection against}, 103780 (3), Multifactorial Adh1 (MGI:87921) -chr4 99336496 99352745 4q22 4q23 103730 ADH1C, ADH3 Alcohol dehydrogenase IC (class I), gamma polypeptide ADH1C 126 ENSG00000248144 {Alcohol dependence, protection against}, 103780 (3), Multifactorial; {Parkinson disease, susceptibility to}, 168600 (3), Autosomal dominant, Multifactorial Adh1 (MGI:87921) -chr4 99412262 99435341 4q23-q24 4q23 600086 ADH7 Alcohol dehydrogenase-7 ADH7 131 ENSG00000196344 Adh7 (MGI:87926) -chr4 99546710 99564038 4q23 4q23 616013 TRMT10A, RG9MTD2, MSSGM1 tRNA methyltransferase 10A TRMT10A 93587 ENSG00000145331 Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3), Autosomal recessive Trmt10a (MGI:1920421) -chr4 99564129 99623996 4q22-q24 4q23 157147 MTTP Microsomal triglyceride transfer protein, 88kD MTTP 4547 ENSG00000138823 {Metabolic syndrome, protection against}, 605552 (3), Autosomal dominant; Abetalipoproteinemia, 200100 (3), Autosomal recessive Mttp (MGI:106926) -chr4 99636528 99657827 4q23 4q23 617881 C4orf54, LOC285556, FOPV Chromosome 4 open reading frame 54 C4orf54 285556 ENSG00000248713 1110002E22Rik (MGI:1915066) -chr4 99816826 99872289 4q25-q27 4q23 605768 DAPP1, BAM32 Dual adaptor of phosphotyrosine and 3-phosphoinositides 1 DAPP1 27071 ENSG00000070190 Dapp1 (MGI:1347063) -chr4 99878335 99894545 4q23 4q23 603296 LAMTOR3, MP1, MAPBP Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 3 LAMTOR3 8649 ENSG00000109270 Lamtor3 (MGI:1929467) -chr4 99896247 99946712 4q23 4q23 617487 DNAJB14 DNAJ/HSP40 homolog, subfamily B, member 14 DNAJB14 79982 ENSG00000164031 Dnajb14 (MGI:1917854) -chr4 99948087 99950274 4q24 4q23 142763 H2AZ H2AZ histone H2AZ1 3015 ENSG00000164032 H2az1 (MGI:1888388) -chr4 100100000 138500000 4q24-q28 613340 HWE2 Epilepsy, hot water, 2 100415904 between D4S1572 and D4S2277 Epilepsy, hot water, 2, 613340 (2) -chr4 100100000 106700000 4q24 157300 MGR1, MA Migraine with or without aura, susceptibility to, 1 192115 {Migraine with or without aura, susceptibility to, 1}, 157300 (2), Autosomal dominant -chr4 100100000 106700000 4q24 615312 OCA5 Albinism, oculocutaneous, type V 101926885 max lod at D4S961 Albinism, oculocutaneous, type V, 615312 (2), Autosomal recessive -chr4 100185869 100190467 4q24-q25 4q24 607730 DDIT4L, REDD2 DNA damage-inducible transcript 4-like DDIT4L 115265 ENSG00000145358 Ddit4l (MGI:1920534) -chr4 101023417 101348294 4q24-q25 4q24 114105 PPP3CA, PPP2B, CALNA, CNA1, DEE91, ACCIID Protein phosphatase 3, catalytic subunit, alpha isoform (calcineurin A alpha) PPP3CA 5530 ENSG00000138814 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 (3), Autosomal dominant; Developmental and epileptic encephalopathy 91, 617711 (3), Autosomal dominant Ppp3ca (MGI:107164) -chr4 101790481 102074811 4q22-q24 4q24 610292 BANK1, FLJ20706, BANK B-cell scaffold protein with ankyrin repeats 1 BANK1 55024 ENSG00000153064 Bank1 (MGI:2442120) -chr4 102251040 102345481 4q22-q24 4q24 608732 SLC39A8, BIGM103, CDG2N Solute carrier family 39 (zinc transporter), member 8 SLC39A8 64116 ENSG00000138821 Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive Slc39a8 (MGI:1914797) -chr4 102501265 102617301 4q23-q24 4q24 164011 NFKB1, CVID12 Nuclear factor kappa-B, subunit 1 (p105, p50) NFKB1 4790 ENSG00000109320 Immunodeficiency, common variable, 12, 616576 (3), Autosomal dominant Nfkb1 (MGI:97312) -chr4 102630769 102760967 4q22-q25 4q24 609489 MANBA, MANB1 Mannosidase, beta A, lysosomal MANBA 4126 ENSG00000109323 linked in mouse to Adl-3 Mannosidosis, beta, 248510 (3), Autosomal recessive Manba (MGI:88175) -chr4 102794382 102868894 4q24 4q24 602963 UBE2D3, UBCH5C Ubiquitin-conjugating enzyme E2D 3 UBE2D3 7323 ENSG00000109332 Ube2d3,Ube2d2b (MGI:1913355,MGI:1920568) -chr4 102868991 102892806 4q22-q24 4q24 611507 CISD2, WFS2, ZCD2, ERIS CDGSH iron sulfur domain protein 2 CISD2 493856 ENSG00000145354 Wolfram syndrome 2, 604928 (3), Autosomal recessive Cisd2 (MGI:1914256) -chr4 102885048 103019704 4q24 4q24 611527 NHEDC1 Na+/H+ exchanger domain-containing protein 1 SLC9B1 150159 ENSG00000164037 Slc9b1 (MGI:1921696) -chr4 103018028 103077318 4q24 4q24 611789 NHEDC2, NHA2 NA+/H+ exchanger domain-containing protein 2 SLC9B2 133308 ENSG00000164038 Slc9b2 (MGI:2140077) -chr4 103105810 103198407 4q24-q25 4q24 117143 CENPE, MCPH13 Centromere autoantigen E, 312kD CENPE 1062 ENSG00000138778 mutation identified in 1 MCPH13 family ?Microcephaly 13, primary, autosomal recessive, 616051 (3), Autosomal recessive Cenpe (MGI:1098230) -chr4 103586030 103719984 4q25 4q24 162332 TACR3, NK3R, HH11 Tachykinin receptor 3 TACR3 6870 ENSG00000169836 Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3), Autosomal recessive Tacr3 (MGI:892968) -chr4 104468307 104494966 4q22-q24 4q24 611645 CXXC4, IDAX CXXC finger protein 4 CXXC4 80319 ENSG00000168772 Cxxc4 (MGI:2442112) -chr4 105145874 105279802 4q24 4q24 612839 TET2, KIAA1546, MDS, IMD75 tet methylcytosine dioxygenase 2 TET2 54790 ENSG00000168769 Myelodysplastic syndrome, somatic, 614286 (3); Immunodeficiency 75, 619126 (3), Autosomal recessive Tet2 (MGI:2443298) -chr4 105369076 105474069 4q25 4q24 609988 PPA2, SCFI, SCFAI Pyrophosphatase, inorganic, 2 PPA2 27068 ENSG00000138777 mutation identified in 1 SCFAI family ?Sudden cardiac failure, alcohol-induced, 617223 (3), Autosomal recessive; Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive Ppa2 (MGI:1922026) -chr4 105682626 105708724 4q24 4q24 611355 INTS12, INT12 Integrator complex subunit 12 INTS12 57117 ENSG00000138785 Ints12 (MGI:1919043) -chr4 105708777 105847725 4q24 4q24 615912 GSTCD Glutathione S-transferase C-terminal domain-containing protein GSTCD 79807 ENSG00000138780 Gstcd (MGI:1914803) -chr4 105895452 105971670 4q24 4q24 610306 NPNT, POEM Nephronectin NPNT 255743 ENSG00000168743 Npnt (MGI:2148811) -chr4 106041598 106316682 4q24 4q24 616899 TBCK, IHPRF3 TBC1 domain-containing kinase TBCK 93627 ENSG00000145348 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive Tbck (MGI:2445052) -chr4 106315543 106349455 4q24 4q24 603605 AIMP1, SCYE1, EMAP2, EMAPII, HLD3 ARS-interacting multifunctional protein 1 AIMP1 9255 ENSG00000164022 Leukodystrophy, hypomyelinating, 3, 260600 (3), Autosomal recessive Aimp1 (MGI:102774) -chr4 106700000 113200000 4q25 611494 ATFB5 Atrial fibrillation, familial, 5 100188842 association with rs2200733 and rs10033464 {Atrial fibrillation, familial, 5}, 611494 (2) -chr4 106700000 113200000 4q25 152430 LGV1 Longevity 1, QTL 140802 maximum lod at D4S1564 [Longevity 1], 152430 (2) -chr4 106921801 107036312 4q25 4q25 605415 DKK2 Dickkopf WNT signaling pathway inhibitor 2 DKK2 27123 ENSG00000155011 Dkk2 (MGI:1890663) -chr4 107613665 107720233 4q24 4q25 603262 PAPSS1, ATPSK1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (ATP sulfurylase/APS kinase-1) PAPSS1 9061 ENSG00000138801 Papss1 (MGI:1330587) -chr4 107823644 107915046 4q25 4q25 611574 SGMS2, SMS2, CDL Sphingomyelin synthase 2 SGMS2 166929 ENSG00000164023 Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, 126550 (3), Autosomal dominant Sgms2 (MGI:1921692) -chr4 107931548 107953460 4q25 4q25 610670 CYP2U1, SPG56 Cytochrome P450, family 2, subfamily U, polypeptide 1 CYP2U1 113612 ENSG00000155016 Spastic paraplegia 56, autosomal recessive, 615030 (3), Autosomal recessive Cyp2u1 (MGI:1918769) -chr4 107989838 108035170 4q22-q26 4q25 601609 HADHSC, SCHAD, HHF4 L-3-hydroxyacyl-CoA dehydrogenase, short chain HADH 3033 ENSG00000138796 Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3), Autosomal recessive; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3), Autosomal recessive Hadh (MGI:96009) -chr4 108047547 108168931 4q23-q25 4q25 153245 LEF1 Lymphoid enhancer-binding factor-1 LEF1 51176 ENSG00000138795 Sebaceous tumors, somatic (3) Lef1 (MGI:96770) -chr4 108620575 108630483 4q25 4q25 616862 RPL34 Ribosomal protein L34 RPL34 6164 ENSG00000109475 Rpl34,Gm4705 (MGI:3782885,MGI:1915686) -chr4 108650598 108667819 4q25 4q25 619023 OSTC Oligosaccharyltransferase complex, noncatalytic subunit OSTC 58505 ENSG00000198856 Ostc (MGI:1913607) -chr4 108742052 108763052 4q25 4q25 614682 AGXT2L1 Alanine-glyoxylate aminotransferase 2-like 1 ETNPPL 64850 ENSG00000164089 Etnppl (MGI:1919010) -chr4 108808724 109302736 4q25 4q25 610004 COL25A1, CLAC, CFEOM5 Collagen, type XXV, alpha-1 polypeptide COL25A1 84570 ENSG00000188517 Fibrosis of extraocular muscles, congenital, 5, 616219 (3), Autosomal recessive Col25a1 (MGI:1924268) -chr4 109433814 109540895 4q25 4q25 607184 SEC24B SEC24-related gene family, member B SEC24B 10427 ENSG00000138802 Sec24b (MGI:2139764) -chr4 109688627 109703444 4q25-q25 4q25 601532 CASP6, MCH2 Caspase 6, apoptosis-related cysteine protease CASP6 839 ENSG00000138794 Casp6 (MGI:1312921) -chr4 109709988 109730069 4q25 4q25 611652 PLA2G12A, GXII, ROSSY Phospholipase A2, Group XIIA PLA2G12A 81579 ENSG00000123739 Pla2g12a (MGI:1913600) -chr4 109730981 109802039 4q25 4q25 217030 CFI, FI, AHUS3, ARMD13 Complement factor I CFI 3426 ENSG00000205403 40kb distal to EGF {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3), Autosomal dominant; {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3), Autosomal dominant; Complement factor I deficiency, 610984 (3), Autosomal recessive Cfi (MGI:105937) -chr4 109815509 109824736 4q25 4q25 606468 NOLA1, GAR1 Nucleolar protein family A, member 1 GAR1 54433 ENSG00000109534 Gar1 (MGI:1930948) -chr4 109827971 109844941 4q 4q25 605224 RRH Rhodopsin homolog, retinal pigment epithelium-derived (peropsin) RRH 10692 ENSG00000180245 Rrh (MGI:1097709) -chr4 109848106 109872314 4q25 4q25 615004 LRIT3, FIGLER4, CSNB1F Leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 3 LRIT3 345193 ENSG00000183423 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3), Autosomal recessive Lrit3 (MGI:2685267) -chr4 109912882 110013765 4q25 4q25 131530 EGF, URG, HOMG4 Epidermal growth factor (urogastrone) EGF 1950 ENSG00000138798 linked to ADH3; cen-ADH3-EGF-IL2-qter Hypomagnesemia 4, renal, 611718 (3), Autosomal recessive Egf (MGI:95290) -chr4 110045845 110199198 4q25 4q25 611546 ELOVL6, LCE, FACE Elongation of very long chain fatty acids-like 6 ELOVL6 79071 ENSG00000170522 Elovl6 (MGI:2156528) -chr4 110476154 110565284 4q25 4q25 138297 ENPEP Glutamyl aminopeptidase (aminopeptidase A) ENPEP 2028 ENSG00000138792 Enpep (MGI:106645) -chr4 110595512 110615457 4q25 4q25 617286 PANCR PITX2 adjacent noncoding RNA PANCR 110231149 ENSG00000250103 -chr4 110617422 110642122 4q25-q26 4q25 601542 PITX2, IDG2, RIEG1, RGS, IGDS2, ASGD4 Paired-like homeodomain transcription factor-2 PITX2 5308 ENSG00000164093 Ring dermoid of cornea, 180550 (3), Autosomal dominant; Axenfeld-Rieger syndrome, type 1, 180500 (3), Autosomal dominant; Anterior segment dysgenesis 4, 137600 (3), Autosomal dominant Pitx2 (MGI:109340) -chr4 110860581 110860646 4q25 4q25 615520 MIR297 Micro RNA 297 MIR297 100126354 ENSG00000215961 -chr4 112231786 112273109 4q25 4q25 610851 AP1AR, C4orf16, GBAR, 2C18 Adaptor-related protein complex 1-associated regulatory protein AP1AR 55435 ENSG00000138660 Ap1ar (MGI:2384822) -chr4 112274536 112285903 4q25 4q25 609028 TIFA, T2BP TRAF-interacting protein with forkhead-associated domain TIFA 92610 ENSG00000145365 Tifa (MGI:2182965) -chr4 112297368 112442620 4q25 4q25 607347 ALPK1, LAK, KIAA1527, ROSAH Alpha-kinase 1 ALPK1 80216 ENSG00000073331 ROSAH syndrome, 614979 (3), Autosomal dominant Alpk1 (MGI:1918731) -chr4 112513515 112516179 4q25 4q25 606624 NEUROG2, NGN2, ATOH4 Neurogenin 2 NEUROG2 63973 ENSG00000178403 Neurog2 (MGI:109619) -chr4 112637142 112657585 4q25 4q25 612026 LARP7, PIP7S, ALAZS La ribonucleoprotein 7, transcriptional regulator LARP7 51574 ENSG00000174720 Alazami syndrome, 615071 (3), Autosomal recessive Larp7 (MGI:107634) -chr4 112647873 112647940 4q25 4q25 614600 MIR367 Micro RNA 367 MIR367 442912 ENSG00000199169 Mir367 (MGI:3619373) -chr4 112648003 112648070 4q25 4q25 614599 MIR302D Micro RNA 302D MIR302D 442896 ENSG00000199145 Mir302d (MGI:3619328) -chr4 112648182 112648250 4q25 4q25 614596 MIR302A Micro RNA 302A MIR302A 407028 ENSG00000207927 Mir302a (MGI:3619325) -chr4 112648362 112648429 4q25 4q25 614598 MIR302C Micro RNA 302C MIR302C 442895 ENSG00000199102 Mir302c (MGI:3619327) -chr4 112648484 112648556 4q25 4q25 614597 MIR302B Micro RNA 302B MIR302B 442894 ENSG00000284463 Mir302b (MGI:3619326) -chr4 112705621 113383735 4q25-q27 4q25-q26 106410 ANK2, LQT4 Ankyrin-2, nonerythrocytic ANK2 287 ENSG00000145362 Long QT syndrome 4, 600919 (3), Autosomal dominant; Cardiac arrhythmia, ankyrin-B-related, 600919 (3), Autosomal dominant Ank2 (MGI:88025) -chr4 113451031 113762176 4q26 4q26 607708 CAMK2D Calcium/calmodulin-dependent protein kinase II-delta CAMK2D 817 ENSG00000145349 Camk2d (MGI:1341265) -chr4 113899928 113980463 4q26 4q26 610010 ARSJ Arylsulfatase J ARSJ 79642 ENSG00000180801 Arsj (MGI:2443513) -chr4 114598401 114687913 4q26 4q26 601291 UGT8, CGT UDP glycosyltransferase 8 (cerebroside synthase) UGT8 7368 ENSG00000174607 Ugt8a (MGI:109522) -chr4 114824121 115114132 4q25-q26 4q26 615039 NDST4 N-deacetylase/N-sulfotransferase 4 NDST4 64579 ENSG00000138653 Ndst4 (MGI:1932545) -chr4 117083553 117085575 4q26 4q26 617505 TRAM1L1 Translocation-associated membrane protein 1-like 1 TRAM1L1 133022 ENSG00000174599 Tram1l1 (MGI:2443503) -chr4 118033321 118258944 4q26 4q26 603950 NDST3 N-deacetylase/N-sulfotransferase 3 NDST3 9348 ENSG00000164100 Ndst3 (MGI:1932544) -chr4 118280037 118353041 4q25-q26 4q26 606709 PRSS12, BSSP3, MRT1 Protease, serine, 12 PRSS12 8492 ENSG00000164099 Mental retardation, autosomal recessive 1, 249500 (3), Autosomal recessive Prss12 (MGI:1100881) -chr4 118685374 118715429 4q26 4q26 616504 METTL14, KIAA1627 Methyltransferase-like 14 METTL14 57721 ENSG00000145388 Mettl14 (MGI:2442926) -chr4 118722822 118838682 4q26 4q26 607186 SEC24D, KIAA0755, CLCRP2 SEC24-related gene family, member D SEC24D 9871 ENSG00000150961 Cole-Carpenter syndrome 2, 616294 (3), Autosomal recessive Sec24d (MGI:1916858) -chr4 119135831 119187788 4q26-q27 4q26 605602 MYOZ2, CMH16 Myozenin 2 MYOZ2 51778 ENSG00000172399 Cardiomyopathy, hypertrophic, 16, 613838 (3), Autosomal dominant Myoz2 (MGI:1913063) -chr4 119212622 119295517 4q26 4q26 617431 USP53, KIAA1350 Ubiquitin-specific peptidase 53 USP53 54532 ENSG00000145390 Usp53 (MGI:2139607) -chr4 119317249 119322137 4q28-q31 4q26 134640 FABP2 Fatty acid-binding protein, intestinal FABP2 2169 ENSG00000145384 Fabp2 (MGI:95478) -chr4 119494402 119628803 4q26 4q26 603310 PDE5A Phosphodiesterase 5A PDE5A 8654 ENSG00000138735 Pde5a (MGI:2651499) -chr4 119900000 122800000 4q27 611598 CELIAC6, AIS5 Celiac disease, susceptibility to, 6 100188846 {Autoimmune disease, susceptibility to, 5}, 611598 (2); {Celiac disease, susceptibility to, 6}, 611598 (2) -chr4 119900000 122800000 4q27 612622 IDDM23 Diabetes mellitus, insulin-dependent, 23 100271697 associated with rs6534347 {Diabetes mellitus, insulin-dependent, 23}, 612622 (2) -chr4 119900000 130100000 4q27-q28.2 614333 MRT29 Mental retardation, autosomal recessive 29 100852393 between rs10518325 and rs10518608 Mental retardation, autosomal recessive 29, 614333 (2), Autosomal recessive -chr4 120055622 120066847 4q27 4q27 601467 MAD2L1 Mitotic arrest deficient, yeast, homolog-like 1 MAD2L1 4085 ENSG00000164109 previously mapped to 5q23-q31 Mad2l1 (MGI:1860374) -chr4 120684905 120922848 4q27 4q27 614161 PRDM5, BCS2 PR domain-containing protein 5 PRDM5 11107 ENSG00000138738 Brittle cornea syndrome 2, 614170 (3), Autosomal recessive Prdm5 (MGI:1918029) -chr4 121029292 121072534 4q27 4q27 616506 NDNF, C4orf31, NORD, HH25 Neuron-derived neurotrophic factor NDNF 79625 ENSG00000173376 Hypogonadotropic hypogonadism 25 with anosmia, 618841 (3), Autosomal dominant Ndnf (MGI:1915419) -chr4 121131407 121227608 4q27 4q27 608019 TNIP3, LIND TNFAIP3-interacting protein 3 TNIP3 79931 ENSG00000050730 Tnip3 (MGI:3041165) -chr4 121328641 121381053 4q27 4q27 606925 QRFPR, GPR103 Pyroglutamylated RFamide peptide receptor QRFPR 84109 ENSG00000186867 Qrfprl,Qrfpr (MGI:2441881,MGI:2677633) -chr4 121667945 121696993 4q26-q28 4q27 131230 ANXA5, ENX2, RPRGL3 Annexin A5 (endonexin II) ANXA5 308 ENSG00000164111 {Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3), Autosomal dominant Anxa5 (MGI:106008) -chr4 121801322 121817020 4q27 4q27 606180 EXOSC9, PMSCL1, PCH1D Exosome component 9 EXOSC9 5393 ENSG00000123737 Pontocerebellar hypoplasia, type 1D, 618065 (3), Autosomal recessive Exosc9 (MGI:1355319) -chr4 121816443 121823882 4q27 4q27 123835 CCNA, CCN1 Cyclin A CCNA2 890 ENSG00000145386 Ccna2 (MGI:108069) -chr4 121824328 121870486 4q27 4q27 607590 BBS7 BBS7 gene BBS7 55212 ENSG00000138686 Bardet-Biedl syndrome 7, 615984 (3), Autosomal recessive Bbs7 (MGI:1918742) -chr4 121874480 121952059 4q27 4q27 602345 TRPC3, TRP3, SCA41 Transient receptor potential cation channel, subfamily C, member 3 TRPC3 7222 ENSG00000138741 mutation identified in one SCA41 patient ?Spinocerebellar ataxia 41, 616410 (3), Autosomal dominant Trpc3 (MGI:109526) -chr4 122152330 122362751 4q27 4q27 611565 KIAA1109, ALKKUCS KIAA1109 gene KIAA1109 84162 ENSG00000138688 Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive 4932438A13Rik (MGI:2444631) -chr4 122378970 122429814 4q27 4q27 614130 ADAD1, TENR Adenosine deaminase domain-containing protein 1, testis-specific ADAD1 132612 ENSG00000164113 Adad1 (MGI:103258) -chr4 122451469 122456724 4q26-q27 4q27 147680 IL2 Interleukin-2 IL2 3558 ENSG00000109471 Il2 (MGI:96548) -chr4 122610107 122621065 4q26-q27 4q27 605384 IL21, CVID11 Interleukin 21 IL21 59067 ENSG00000138684 mutation identified in 1 CVID11 patient ?Immunodeficiency, common variable, 11, 615767 (3), Autosomal recessive Il21 (MGI:1890474) -chr4 122700436 122744942 4q27 4q27 610683 BBS12, FLJ35630, C4orf24 BBS12 gene BBS12 166379 ENSG00000181004 1Mb centromeric to BBS Bardet-Biedl syndrome 12, 615989 (3), Autosomal recessive Bbs12 (MGI:2686651) -chr4 122826707 122898235 4q25-q27 4q28.1 134920 FGF2, FGFB Fibroblast growth factor-2 (basic) FGF2 2247 ENSG00000138685 many alternate names Fgf2 (MGI:95516) -chr4 122892576 122922967 4q28.1 4q28.1 606261 NUDT6, ASFGF2 Nudix hydrolase 6 NUDT6 11162 ENSG00000170917 Nudt6 (MGI:2387618) -chr4 122923069 123319432 4q28.1 4q28.1 613940 SPATA5, SPAF, EHLMRS Spermatogenesis-associated protein 5 SPATA5 166378 ENSG00000145375 Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive Spata5 (MGI:1927170) -chr4 123396794 123403759 4q28.1 4q28.1 602465 SPRY1 Sprouty RTK signaling antagonist 1 SPRY1 10252 ENSG00000164056 Spry1 (MGI:1345139) -chr4 125314917 125492931 4q28.1 4q28.1 612411 FAT4, VMLDS2, HKLLS2 FAT atypical cadherin 4 FAT4 79633 ENSG00000196159 Van Maldergem syndrome 2, 615546 (3), Autosomal recessive; Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3), Autosomal recessive Fat4 (MGI:3045256) -chr4 127623270 127726736 4q28 4q28.1 610621 INTU, KIAA1284, PDZK6, SRTD20, OFD17 Inturned planar cell polarity protein INTU 27152 ENSG00000164066 mutation identified in 1 SRTD20 patient and 1 OFD17 patient ?Orofaciodigital syndrome XVII, 617926 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3), Autosomal recessive Intu (MGI:2443752) -chr4 127730371 127774298 4q28.1 4q28.1 610796 SLC25A31, ANT4, AAC4 Solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 31 SLC25A31 83447 ENSG00000151475 Slc25a31 (MGI:1920583) -chr4 127781795 127840732 4q28 4q28.1 619077 HSPA4L, APG1 Heat-shock protein family A (HSP70) member 4-like protein HSPA4L 22824 ENSG00000164070 Hspa4l (MGI:107422) -chr4 127880892 127899223 4q27-q28 4q28.1 605031 PLK4, STK18, SAK, MCCRP2 Polo-like kinase 4 (serine/threonine protein kinase-18) PLK4 10733 ENSG00000142731 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3), Autosomal recessive Plk4 (MGI:101783) -chr4 127917731 127965987 4q28.1-q28.2 4q28.2 611124 MFSD8, MGC33302, CLN7, CCMD Major facilitator superfamily domain-containing protein 8 MFSD8 256471 ENSG00000164073 Macular dystrophy with central cone involvement, 616170 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 7, 610951 (3), Autosomal recessive Mfsd8 (MGI:1919425) -chr4 128269241 128288204 4q26 4q28.2 607735 PGRMC2 Progesterone receptor membrane component 2 PGRMC2 10424 ENSG00000164040 Pgrmc2 (MGI:1918054) -chr4 128809686 128875223 4q28.2 4q28.2 610514 PHF17, JADE1 PHD finger protein 17 JADE1 79960 ENSG00000077684 Jade1 (MGI:1925835) -chr4 128874389 129093579 4q28.2 4q28.2 611399 SCLT1, CAP1A Sodium channel and clathrin linker 1 SCLT1 132320 ENSG00000151466 Sclt1 (MGI:1914411) -chr4 130100000 154600000 4q28-q31 111800 SF Stoltzfus blood group 6420 ~25cM from MNSs [Blood group, Stoltzfus system], 111800 (2) -chr4 133149293 133208605 4q28.3 4q28.3 608286 PCDH10, KIAA1400 Protocadherin 10 PCDH10 57575 ENSG00000138650 Pcdh10 (MGI:1338042) -chr4 137518917 137532529 4q31 4q28.3 608287 PCDH18, KIAA1562 Protocadherin 18 PCDH18 54510 ENSG00000189184 Pcdh18 (MGI:1920423) -chr4 138164096 138242348 4q28.3 4q28.3 607933 SLC7A11, XCT Solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 SLC7A11 23657 ENSG00000151012 Slc7a11 (MGI:1347355) -chr4 139015780 139045938 4q31.1 4q31.1 608468 CCRN4L, CCR4L, CCR4 Carbon catabolite repression 4-like NOCT 25819 ENSG00000151014 Noct (MGI:109382) -chr4 139289916 139302550 4q28.2-q31.1 4q31.1 603844 NDUFC1 NADH-ubiquinone oxidoreductase subunit C1 NDUFC1 4717 ENSG00000109390 Ndufc1 (MGI:1913627) -chr4 139301498 139391383 4q31.1 4q31.1 608000 NAA15, NARG1, NATH, MRD50 N-alpha-acetyltransferase 15, NatA auxiliary subunit NAA15 80155 ENSG00000164134 Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, 617787 (3), Autosomal dominant Naa15 (MGI:1922088) -chr4 139453231 139476608 4q31.1 4q31.1 605950 RAB33B, SMC2 Ras-associated protein RAB33B RAB33B 83452 ENSG00000172007 Smith-McCort dysplasia 2, 615222 (3), Autosomal recessive Rab33b (MGI:1330805) -chr4 139492973 139556218 4q31.1 4q31.1 606594 SETD7, SET7, KIAA1717 SET domain-containing protein 7 SETD7 80854 ENSG00000145391 Setd7 (MGI:1920501) -chr4 139665724 139754607 4q28-q31 4q31.1 601733 MGST2, GST2 Microsomal glutathione S-transferase 2 MGST2 4258 ENSG00000085871 Mgst2 (MGI:2448481) -chr4 139716752 140154183 4q28.3 4q31.1 608991 MAML3, MAM2, KIAA1816 Mastermind-like 3 MAML3 55534 ENSG00000196782 Maml3 (MGI:2389461) -chr4 140388452 140427647 4q31.1 4q31.1 601858 CLGN Calmegin CLGN 1047 ENSG00000153132 Clgn (MGI:107472) -chr4 140442256 140499045 4q31.1 4q31.1 610310 MGAT4D, LOC152586 MGAT4 family member D MGAT4D 152586 ENSG00000205301 Mgat4d (MGI:1914805) -chr4 140524145 140553769 4q31.1 4q31.1 610196 ELMOD2 ELMO domain-containing protein 2 ELMOD2 255520 ENSG00000179387 Elmod2 (MGI:2445165) -chr4 140555769 140568960 4q31 4q31.1 113730 UCP1 Uncoupling protein 1 (mitochondrial, proton carrier) UCP1 7350 ENSG00000109424 Ucp1 (MGI:98894) -chr4 140620781 140756384 4q31.21 4q31.21 618035 TBC1D9, KIAA0882 TBC1 domain family member 9 TBC1D9 23158 ENSG00000109436 Tbc1d9 (MGI:1918560) -chr4 141220293 141234696 4q31.1-q31.2 4q31.21 609550 ZNF330, NOA36 Zinc finger protein 330 ZNF330 27309 ENSG00000109445 Zfp330 (MGI:1353574) -chr4 141636582 141733986 4q31 4q31.21 600554 IL15 Interleukin-15 IL15 3600 ENSG00000164136 Il15 (MGI:103014) -chr4 142023159 142846534 4q31.21 4q31.21 607494 INPP4B Inositol polyphosphatase-4-phosphatase, type II, 105kD INPP4B 8821 ENSG00000109452 Inpp4b (MGI:2158925) -chr4 143184916 143224428 4q31.21 4q31.21 618322 USP38 Ubiquitin-specific protease 38 USP38 84640 ENSG00000170185 Usp38 (MGI:1922091) -chr4 143336875 143474564 4q13.1 4q31.21 604439 GAB1, DFNB26 Grb2-associated binding protein 1 GAB1 2549 ENSG00000109458 mutation identified in 1 family ?Deafness, autosomal recessive 26, 605428 (3), Autosomal recessive Gab1 (MGI:108088) -chr4 143513500 143557485 4q31.1-q31.2 4q31.21 603375 SMARCA5, SNF2H SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 5 SMARCA5 8467 ENSG00000153147 Smarca5 (MGI:1935129) -chr4 143577301 143700674 4q31.2 4q31.21 608946 FREM3 FRAS1-related extracellular matrix protein 3 FREM3 166752 ENSG00000183090 Frem3 (MGI:2685641) -chr4 143870863 143912130 4q28-q31 4q31.21 138590 GYPE, GPE Glycophorin E GYPE 2996 ENSG00000197465 tandem: 5'-GYPA-GYPB-GYPE-3'; ?4q31.1 Gypa (MGI:95880) -chr4 143995171 144021860 4q28-q31 4q31.21 617923 GYPB, SS Glycophorin B GYPB 2994 ENSG00000250361 [Blood group, Ss], 111740 (3); {Malaria, resistance to}, 611162 (3) Gypa (MGI:95880) -chr4 144109302 144140853 4q28.2-q31.1 4q31.21 617922 GYPA, MN, GPA Glycophorin A GYPA 2993 ENSG00000170180 {Malaria, resistance to}, 611162 (3); [Blood group, MNSs system], 111300 (3) Gypa (MGI:95880) -chr4 144646153 144745270 4q28-q32 4q31.21 606178 HHIP, HIP Hedgehog-interacting protein HHIP 64399 ENSG00000164161 Hhip (MGI:1341847) -chr4 144967116 145098570 4q31.21 4q31.21 613745 ANAPC10, DOC1, APC10 Anaphase-promoting complex, subunit 10 ANAPC10 10393 ENSG00000164162 Anapc10 (MGI:1916249) -chr4 145098310 145129523 4q31 4q31.21 601213 ABCE1, RNASELI, RNS4I ATP-binding cassette, subfamily E, member 1 (ribonuclease L inhibitor) ABCE1 6059 ENSG00000164163 Abce1 (MGI:1195458) -chr4 145133649 145180588 4q31.2 4q31.21 611744 OTUD4, KIAA1046, HIN1 OTD domain-containing protein 4 OTUD4 54726 ENSG00000164164 Otud4 (MGI:1098801) -chr4 145481305 145559175 4q28 4q31.21 601595 SMAD1, MADH1, MADR1, BSP1 SMAD family member 1 SMAD1 4086 ENSG00000170365 Smad1 (MGI:109452) -chr4 145619384 145660032 4q31.1-q31.2 4q31.21 607481 MMAA Metabolism of cobalamin associated A MMAA 166785 ENSG00000151611 Methylmalonic aciduria, vitamin B12-responsive, cblA type, 251100 (3), Autosomal recessive Mmaa (MGI:1923805) -chr4 145757626 145938822 4q31.21-q31.22 4q31.21-q31.22 617962 ZNF827 Zinc finger protein 827 ZNF827 152485 ENSG00000151612 Zfp827 (MGI:2444807) -chr4 146175702 146204435 4q31.2 4q31.22 607286 LSM6 LSM6 protein LSM6 11157 ENSG00000164167 Lsm6 (MGI:1925901) -chr4 146253980 146522350 4q31.2 4q31.22 611459 SLC10A7, SSASKS Solute carrier family 10 (sodium/bile acid cotransporter family), member 7 SLC10A7 84068 ENSG00000120519 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 (3), Autosomal recessive Slc10a7 (MGI:1924025) -chr4 146638892 146642473 4q31.2 4q31.22 113725 POU4F2, BRN3B POU domain, class 4, transcription factor 2 POU4F2 5458 ENSG00000151615 Pou4f2 (MGI:102524) -chr4 146706616 146945881 4q31.22 4q31.22 618735 TTC29, SPGF42 Tetratricopeptide repeat domain-containing protein 29 TTC29 83894 ENSG00000137473 Spermatogenic failure 42, 618745 (3), Autosomal recessive Ttc29 (MGI:1920551) -chr4 147481096 147544953 4q31.2 4q31.22-q31.23 131243 EDNRA, MFDA Endothelin receptor type A EDNRA 1909 ENSG00000151617 {Migraine, resistance to}, 157300 (3), Autosomal dominant; Mandibulofacial dysostosis with alopecia, 616367 (3), Autosomal dominant Ednra (MGI:105923) -chr4 147617370 147637272 4q31.21 4q31.23 613937 TMEM184C, TMEM34 Transmembrane protein 184C TMEM184C 55751 ENSG00000164168 Tmem184c (MGI:2384562) -chr4 147635649 147684162 4q31.23 4q31.23 616125 PRMT9, PRMT10 Protein arginine methyltransferase 9 PRMT9 90826 ENSG00000164169 Prmt9 (MGI:2142651) -chr4 147732062 148072780 4q31.2 4q31.23 609746 ARHGAP10, GRAF2, PSGAP RHO GTPase-activating protein 10 ARHGAP10 79658 ENSG00000071205 Arhgap10 (MGI:1925764) -chr4 148078763 148444697 4q31.1 4q31.23 600983 NR3C2, MLR, MCR Nuclear receptor subfamily 3, group C, member 2 (mineralocorticoid receptor; aldosterone receptor) NR3C2 4306 ENSG00000151623 Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3), Autosomal dominant; Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3) Nr3c2 (MGI:99459) -chr4 150078444 150257448 4q31.23 4q31.2-q31.3 613166 DCLK2, DCK2, CLIK2, CL2 Doublecortin-like kinase 2 DCLK2 166614 ENSG00000170390 Dclk2 (MGI:1918012) -chr4 150200000 154600000 4q31 609782 AAA2 Aortic aneurysm, familial abdominal 2 100505390 max lod at D4S1644 Aortic aneurysm, familial abdominal 2, 609782 (2) -chr4 150200000 169200000 4q31.3-q32.3 611644 HSCR9 Hirschsprung disease, susceptibility to, 9 100188850 between D4S3049 and D4S1566 {Hirschsprung disease, susceptibility to, 9}, 611644 (2) -chr4 150200000 182300000 4q31-q34 609985 PAND3 Panic disorder 3 677663 max lod at D4S413 Panic disorder 3, 609985 (2) -chr4 150200000 182300000 4q31-q34 607857 PSORS9 Psoriasis susceptibility 9 359825 max lod at D4S1597 {Psoriasis susceptibility 9}, 607857 (2) -chr4 150200000 154600000 4q31 612224 STQTL12 Stature quantitative trait locus 12 100301523 associated with rs6854783 {Stature QTL 12}, 612224 (2) -chr4 150264434 151015726 4q31.3 4q31.3 606453 LRBA, LBA, CDC4L, CVID8 Lipopolysaccharide-responsive, beige-like anchor protein LRBA 987 ENSG00000198589 Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3), Autosomal recessive Lrba (MGI:1933162) -chr4 150582150 150584692 4q31.3 4q31.3 604357 MAB21L2, MCSKS14 mab-21 like 2 MAB21L2 10586 ENSG00000181541 Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3), Autosomal dominant, Autosomal recessive Mab21l2 (MGI:1346022) -chr4 151099627 151104641 4q31.2-q31.3 4q31.3 180478 RPS3A Ribosomal protein S3a RPS3A 6189 ENSG00000145425 Rps3a1,Rps3a2 (MGI:1202063,MGI:3642853) -chr4 151103826 151103890 4q31.3 4q31.3 603568 SNORD73A, RNU73 Small nucleolar RNA, C/D box 73A SNORD73A 8944 ENSG00000208797 -chr4 151120280 151325604 4q31.3 4q31.3 608674 SH3D19, EBP SH3 domain protein 19 SH3D19 152503 ENSG00000109686 fused with AML1 in t(4;21) Sh3d19 (MGI:1350923) -chr4 151670503 151761006 4q31.328 4q31.3 603645 GATB, PET112, COXPD41 Glutamyl-tRNA amidotransferase, subunit B GATB 5188 ENSG00000059691 mutation identified in 1 COXPD41 family ?Combined oxidative phosphorylation deficiency 41, 618838 (3), Autosomal recessive Gatb (MGI:2442496) -chr4 152320543 152536872 4q31.3 4q31.3 606278 FBXW7, AGO, CDC4 F-box and WD40 domain protein 7 FBXW7 55294 ENSG00000109670 Fbxw7 (MGI:1354695) -chr4 152779953 152912356 4q31.3 4q31.3 605928 ARFIP1 ADP-ribosylation factor-interacting protein 1 ARFIP1 27236 ENSG00000164144 Arfip1 (MGI:1277120) -chr4 153152162 153339316 4q31.3 4q31.3 614141 TRIM2, KIAA0517, CMT2R Tripartite motif-containing protein 2 TRIM2 23321 ENSG00000109654 Charcot-Marie-Tooth disease, type 2R, 615490 (3), Autosomal recessive Trim2 (MGI:1933163) -chr4 153344648 153415117 4q31.3 4q31.3 611422 MND1 Meiotic nuclear divisions 1 MND1 84057 ENSG00000121211 Mnd1 (MGI:1924165) -chr4 153466345 153637607 4q31.3 4q31.3 616243 TMEM131L, KIAA0922 Transmembrane protein 131-like TMEM131L 23240 ENSG00000121210 Tmem131l (MGI:2443399) -chr4 153684079 153710642 4q32 4q31.3 603028 TLR2, TIL4 Toll-like receptor-2 TLR2 7097 ENSG00000137462 {Colorectal cancer, susceptibility to}, 114500 (3), Somatic mutation, Autosomal dominant; {Leprosy, susceptibility to}, 246300 (3), Autosomal dominant; {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) Tlr2 (MGI:1346060) -chr4 153780590 153789082 4q31.3 4q31.3 604157 SFRP2, SARP1 Secreted frizzled-related protein 2 SFRP2 6423 ENSG00000145423 Sfrp2 (MGI:108078) -chr4 154231741 154491798 4q31.3 4q31.3 612486 DCHS2, CDHJ, PCDHJ Dachsous, Drosophila, homolog of, 2 DCHS2 54798 ENSG00000197410 Dchs2 (MGI:2685263) -chr4 154535004 154550399 4q31.2-q32.1 4q31.3 605961 PLRG1, PRL1 Pleiotropic regulator 1 PLRG1 5356 ENSG00000171566 Plrg1 (MGI:1858197) -chr4 154562979 154572806 4q28 4q31.3 134830 FGB Fibrinogen, beta polypeptide FGB 2244 ENSG00000171564 4q31 by A; proximal to GYPB/GYPA Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive; Dysfibrinogenemia, congenital, 616004 (3); Afibrinogenemia, congenital, 202400 (3), Autosomal recessive Fgb (MGI:99501) -chr4 154583125 154590741 4q28 4q31.3 134820 FGA Fibrinogen, alpha polypeptide FGA 2243 ENSG00000171560 Hypodysfibrinogenemia, congenital, 616004 (3); Dysfibrinogenemia, congenital, 616004 (3); Amyloidosis, familial visceral, 105200 (3), Autosomal dominant; Afibrinogenemia, congenital, 202400 (3), Autosomal recessive Fga (MGI:1316726) -chr4 154600000 163600000 4q32.1-q32.2 613603 TRIP4q32.1q32.2, C4TRIPq32.1q32.2 Chromosome 4q32.1-q32.2 triplication syndrome Chromosome 4q32.1-q32.2 triplication syndrome, 613603 (4), Autosomal dominant -chr4 154604135 154612655 4q28 4q32.1 134850 FGG Fibrinogen, gamma polypeptide FGG 2266 ENSG00000171557 linked to MN Dysfibrinogenemia, congenital, 616004 (3); Hypodysfibrinogenemia, 616004 (3); Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive; Afibrinogenemia, congenital, 202400 (3), Autosomal recessive Fgg (MGI:95526) -chr4 154740837 154753119 4q31 4q32.1 604863 LRAT, LCA14 Lecithin retinol acyltransferase LRAT 9227 ENSG00000121207 Leber congenital amaurosis 14, 613341 (3), Autosomal recessive; Retinal dystrophy, early-onset severe, 613341 (3), Autosomal recessive; Retinitis pigmentosa, juvenile, 613341 (3), Autosomal recessive Lrat (MGI:1891259) -chr4 155173722 155217075 4q31 4q32.1 162642 NPY2R Neuropeptide Y receptor Y2 NPY2R 4887 ENSG00000185149 Npy2r (MGI:108418) -chr4 155342657 155376969 4q32 4q32.1 610070 ASAP Aster-associated protein MAP9 79884 ENSG00000164114 Map9 (MGI:2442208) -chr4 155666724 155737058 4q32 4q32.1 139396 GUCY1A3, GUC1A3, GUCSA3, MYMY6 Guanylate cyclase 1, soluble, alpha 3 GUCY1A1 2982 ENSG00000164116 Moyamoya 6 with achalasia, 615750 (3), Autosomal recessive Gucy1a1 (MGI:1926562) -chr4 155759020 155807810 4q32 4q32.1 139397 GUCY1B3, GUC1B3, GUCSB3 Guanylate cyclase 1, soluble, beta 3 GUCY1B1 2983 ENSG00000061918 Gucy1b1 (MGI:1860604) -chr4 155829698 155867302 4q31.3-q32 4q32.1 616693 ASIC5, HINAC Acid-sensing ion channel family member 5 ASIC5 51802 ENSG00000256394 Asic5 (MGI:1929259) -chr4 155903695 155920405 4q31-q32 4q32.1 191070 TDO2, TPH2, TRPO, HYPTRP Tryptophan oxygenase TDO2 6999 ENSG00000151790 mutation identified in 1 HYPTRP patient [?Hypertryptophanemia], 600627 (3), Autosomal recessive Tdo2 (MGI:1928486) -chr4 155924117 155953865 4q32.1 4q32.1 600550 CTSO Cathepsin O CTSO 1519 ENSG00000256043 Ctso (MGI:2139628) -chr4 156760453 156971798 4q32 4q32.1 608452 PDGFC Platelet-derived growth factor C PDGFC 56034 ENSG00000145431 Pdgfc (MGI:1859631) -chr4 157076145 157172089 4q31.3 4q32.1 138492 GLRB, HKPX2 Glycine receptor, beta subunit GLRB 2743 ENSG00000109738 Hyperekplexia 2, 614619 (3), Autosomal recessive Glrb (MGI:95751) -chr4 157220119 157370582 4q32-q33 4q32.1 138247 GRIA2, GLUR2, NEDLIB Glutamate receptor, ionotropic, AMPA 2 GRIA2 2891 ENSG00000120251 Neurodevelopmental disorder with language impairment and behavioral abnormalities, 618917 (3), Autosomal dominant Gria2 (MGI:95809) -chr4 158521710 158653371 4q32 4q32.1 606654 RXFP1, LGR7 Relaxin/insulin-like family peptide receptor 1 RXFP1 59350 ENSG00000171509 Rxfp1 (MGI:2682211) -chr4 158666674 158672055 4q32.1 4q32.1 616210 C4orf46, RCDG1 Chromosome 4 open reading frame 46 C4orf46 201725 ENSG00000205208 4930579G24Rik (MGI:1923189) -chr4 158672295 158709622 4q32-qter 4q32.1 231675 ETFDH, MADD Electron transfer flavoprotein:ubiquinone oxidoreductase ETFDH 2110 ENSG00000171503 Glutaric acidemia IIC, 231680 (3), Autosomal recessive Etfdh (MGI:106100) -chr4 158709126 158723395 4q31.3 4q32.1 601753 PPID Peptidylprolyl isomerase D (cyclophilin D) PPID 5481 ENSG00000171497 Ppid (MGI:1914988) -chr4 158769025 158908049 4q32.1 4q32.1 612768 FNIP2, FNIPL, KIAA1450 Folliculin-interacting protein 2 FNIP2 57600 ENSG00000052795 Fnip2 (MGI:2683054) -chr4 159103078 159360172 4q32.1 4q32.1 609530 RAPGEF2, NRAPGEP, RAGEF, KIAA0313 Rap guanine nucleotide exchange factor 2 RAPGEF2 9693 ENSG00000109756 mutation identified in 1 FAME7 patient ?Epilepsy, familial adult myoclonic, 7, 618075 (3), Autosomal dominant Rapgef2 (MGI:2659071) -chr4 163109132 163166909 4q32.2 4q32.2 617868 NAF1 Nuclear assembly factor 1 ribonucleoprotein NAF1 92345 ENSG00000145414 Naf1 (MGI:2682306) -chr4 163323961 163344831 4q31.3-q32 4q32.2 162641 NPY1R Neuropeptide Y receptor NPY1R 4886 ENSG00000164128 Npy1r (MGI:104963) -chr4 163336967 163352276 4q31-q32 4q32.2 602001 NPY5R Neuropeptide Y receptor Y5 NPY5R 4889 ENSG00000164129 Npy5r (MGI:108082) -chr4 163524297 164384049 4q32.2-q32.3 4q32.2-q32.3 613331 MARCH1 Membrane-associated RING-CH finger protein 1 MARCHF1 55016 ENSG00000145416 Marchf1 (MGI:1920175) -chr4 163600000 169200000 4q32.3 611109 CINN Cinnamon odor, pleasantness of 100188835 max lod at AFM295YES [Cinnamon odor, pleasantness of], 611109 (2) -chr4 163600000 169200000 4q32.3 610239 HDLCQ4 High density lipoprotein cholesterol level QTL 4 100188806 between D4S1597 and D4S1539 [High density lipoprotein cholesterol level QTL 4], 610239 (2) -chr4 163600000 182300000 4q32-q34 612165 RP29 Retinitis pigmentosa 29 54110 maximum lod at D4S415 Retinitis pigmentosa 29, 612165 (2), Autosomal recessive -chr4 164196839 164197820 4q32.3 4q32.3 606877 ANP32C, PP32R1 Acidic leucine-rich nuclear phosphoprotein 32 family, member C ANP32C 23520 Anp32a (MGI:108447) -chr4 164877022 164899062 4q32.3 4q32.3 615594 ELA, LOC100506013 Elabela APELA 100506013 ENSG00000248329 Apela (MGI:3642370) -chr4 164954445 164977656 4q32.3 4q32.3 619417 TRIM61, RNF35 Tripartite motif-containing protein 61 TRIM61 391712 ENSG00000183439 Trim61 (MGI:2387432) -chr4 165031952 165041820 4q32.3 4q32.3 619416 TRIM60, RNF33 Tripartite motif-containing protein 60 TRIM60 166655 ENSG00000176979 Trim60 (MGI:2387430) -chr4 165207560 165323155 4q21.2 4q32.3 605774 KLHL2, MAYVEN Kelch-like 2 KLHL2 11275 ENSG00000109466 Klhl2 (MGI:1924363) -chr4 165327668 165343163 4q32-q34 4q32.3 607545 MSMO1, SC4MOL, ERG25, MCCPD Methylsterol monooxygenase 1 MSMO1 6307 ENSG00000052802 Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3), Autosomal recessive Msmo1 (MGI:1913484) -chr4 165379007 165498546 4q32.3 4q32.3 114855 CPE, IDDHH Carboxypeptidase E CPE 1363 ENSG00000109472 Intellectual developmental disorder and hypogonadotropic hypogonadism, 619326 (3), Autosomal recessive Cpe (MGI:101932) -chr4 165873123 166105177 4q32-q33 4q32.3 606742 TLL1, TLL, ASD6 Tolloid-like 1 TLL1 7092 ENSG00000038295 Atrial septal defect 6, 613087 (3), Autosomal dominant Tll1 (MGI:106923) -chr4 166733383 167234868 4q32.3 4q32.3 607989 SPOCK3 SPARC/osteonectin, CWCV, and KAZAL-like domains proteoglycan 3 SPOCK3 50859 ENSG00000196104 Spock3 (MGI:1920152) -chr4 168092524 168187735 4q33 4q32.3 608008 ANXA10 Annexin A10 ANXA10 11199 ENSG00000109511 Anxa10 (MGI:1347090) -chr4 168216292 168325980 4q32.3 4q32.3 613974 DDX60 DExD/H-box helicase 60 DDX60 55601 ENSG00000137628 Ddx60 (MGI:2384570) -chr4 168356734 168480513 4q32.3 4q32.3 616725 DDX60L DExD/H-box 60 like DDX60L 91351 ENSG00000181381 -chr4 168497038 168928440 4q32.3 4q32.3 608092 PALLD, KIAA0992, PNCA1 Palladin, cytoskeletal-associated protein PALLD 23022 ENSG00000129116 {Pancreatic cancer, susceptibility to, 1}, 606856 (3), Autosomal dominant Palld (MGI:1919583) -chr4 168894483 169010283 4q32.3 4q32.3 619394 CBR4 Carbonyl reductase 4 CBR4 84869 ENSG00000145439 Cbr4 (MGI:2384567) -chr4 169094258 169270955 4q32.3 4q32-q33 618642 SH3RF1, POSH, RNF142 SH3 domain-containing RING finger protein 1 SH3RF1 57630 ENSG00000154447 Sh3rf1 (MGI:1913066) -chr4 169200000 190214555 4q33-qter 607258 HCA1 Hypercalciuria, absorptive, 1 266790 Hypercalciuria, absorptive, 607258 (2) -chr4 169392808 169612628 4q33 4q33 604588 NEK1, SRTD6, SRPS2A, ALS24 NIMA-related kinase 1 NEK1 4750 ENSG00000137601 1 patient showed heterozygous NEK2 and DYNC2H1 mutations Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3), Digenic recessive, Autosomal recessive; {Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3), Autosomal dominant Nek1 (MGI:97303) -chr4 169620577 169723672 4q33 4q33 600580 CLCN3 Chloride channel-3 CLCN3 1182 ENSG00000109572 Clcn3 (MGI:103555) -chr4 169729469 169757943 4q33 4q33 616614 HPF1, C4orf27 Histone parylation factor 1 HPF1 54969 ENSG00000056050 Hpf1 (MGI:1919862) -chr4 169986601 170028740 4q32.3 4q33 616523 MFAP3L, KIAA0626 Microfibrillar-associated protein 3-like MFAP3L 9848 ENSG00000198948 Mfap3l (MGI:1918556) -chr4 170060221 170091698 4q32.2 4q33 611754 AADAT, KAT2 Alpha-aminoadipate aminotransferase AADAT 51166 ENSG00000109576 Aadat (MGI:1345167) -chr4 171812655 173041558 4q34.1 4q34.1 615138 GALNTL6, GALNACT20 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 GALNTL6 442117 ENSG00000174473 Galntl6 (MGI:1913581) -chr4 173168810 173323966 4q31.1 4q34.1 605005 GALNT7 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 GALNT7 51809 ENSG00000109586 Galnt7 (MGI:1349449) -chr4 173331375 173334357 4q31 4q34.1 163906 HMGB2, HMG2 High-mobility group box 2 (high-mobility group (nonhistone chromosomal) protein 2) HMGB2 3148 ENSG00000164104 Hmgb2 (MGI:96157) -chr4 173370953 173377531 4q34.1 4q34.1 603378 SAP30 SIN3-associated polypeptide, 30kD SAP30 8819 ENSG00000164105 Sap30 (MGI:1929129) -chr4 173384700 173519143 4q34.1 4q34.1 603163 SCRG1 Scraptie-responsive gene 1 SCRG1 11341 ENSG00000164106 Scrg1 (MGI:1328308) -chr4 173526090 173530228 4q33 4q34.1 602407 HAND2, DHAND2, DHAND Heart- and neural crest derivative-expressed 2 HAND2 9464 ENSG00000164107 Hand2 (MGI:103580) -chr4 173528599 173591254 4q34.1 4q34.1 617240 HAND2AS1, UPH, DEIN HAND2 antisense RNA 1, noncoding (Upperhand) HAND2-AS1 79804 ENSG00000237125 -chr4 173615735 173616841 4q33-q34.1 4q34.1 116960 MORF4, SEN1, CSRB Mortality factor 4, pseudogene MORF4 10934 -chr4 174236657 174283666 4q34.1 4q34.1 605649 FBXO8, FBX8, FBS F-box only protein 8 FBXO8 26269 ENSG00000164117 Fbxo8 (MGI:1354696) -chr4 174423794 174423863 4q34.1 4q34.1 616274 MIR4276 Micro RNA 4276 MIR4276 100423042 ENSG00000265846 -chr4 174490174 174522892 4q34-q35 4q34.1 601688 HPGD, PGDH1, PHOAR1 Hydroxyprostaglandin dehydrogenase 15-(NAD) HPGD 3248 ENSG00000164120 mutation identified in 1 DIGC family ?Digital clubbing, isolated congenital, 119900 (3), Autosomal recessive; Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3), Autosomal recessive; Cranioosteoarthropathy, 259100 (3), Autosomal recessive Hpgd (MGI:108085) -chr4 174636919 174829567 4q33-q34 4q34.1 600421 GLRA3 Glycine receptor, alpha-3 polypeptide GLRA3 8001 ENSG00000145451 Glra3 (MGI:95749) -chr4 174918357 174978179 4q34 4q34.1 604778 ADAM29 ADAM metallopeptidase domain 29 ADAM29 11086 ENSG00000168594 Adam29 (MGI:2676326) -chr4 175632936 176002690 4q34 4q34.2 601275 GPM6A, M6A Glycoprotein M6A GPM6A 2823 ENSG00000150625 Gpm6a (MGI:107671) -chr4 176065840 176182823 4q34 4q34.2 609005 WDR17 WD repeat-containing protein 17 WDR17 116966 ENSG00000150627 Wdr17 (MGI:1924662) -chr4 176184578 176195584 4q34.1-q34.2 4q34.2 609879 SPATA4, TSARG2 Spermatogenesis-associated protein 4 SPATA4 132851 ENSG00000150628 Spata4 (MGI:1916531) -chr4 176213672 176277570 4q34.2 4q34.2 615050 ASB5 Ankyrin repeat- and SOCS box-containing protein 5 ASB5 140458 ENSG00000164122 Asb5 (MGI:1923544) -chr4 176319965 176332244 4q34.2 4q34.2 618854 SPCS3, SPC3, SPC22, SPC23 Signal peptidase complex, subunit 3 SPCS3 60559 ENSG00000129128 Spcs3,Arxes2 (MGI:1923937,MGI:1924226) -chr4 176600000 190214555 4q34.3-q35.2 600361 HMSN5 Hereditary motor and sensory neuropathy V 101059903 D4S1552 and D4S2930 Hereditary motor and sensory neuropathy V, 600361 (2), Autosomal dominant -chr4 176600000 186200000 4q34.3-q35.1 613371 SCA30 Spinocerebellar ataxia 30 100359393 between rs1397413 and rs2175476; max lod 3.0 ?Spinocerebellar ataxia 30, 613371 (2), Autosomal dominant -chr4 176683537 176792921 4q34.3 4q34.3 601528 VEGFC, VRP, LMPHM4 Vascular endothelial growth factor C VEGFC 7424 ENSG00000150630 Lymphatic malformation 4, 615907 (3), Autosomal dominant Vegfc (MGI:109124) -chr4 177430773 177442468 4q32-q33 4q34.3 613228 AGA Aspartylglucosaminidase AGA 175 ENSG00000038002 Aspartylglucosaminuria, 208400 (3), Autosomal recessive Aga (MGI:104873) -chr4 181447612 182803023 4q35.1 4q34.3-q35.1 610083 TENM3, ODZ3, TNM3, KIAA1455, MCOPCB9, MCOPS15 Teneurin transmembrane protein 3 TENM3 55714 ENSG00000218336 mutation identified in 1 MCOPCB9 family Microphthalmia, syndromic 15, 615145 (3), Autosomal recessive; ?Microphthalmia, isolated, with coloboma 9, 615145 (3), Autosomal recessive Tenm3 (MGI:1345183) -chr4 182890090 182917610 4q35 4q35.1 607638 DCTD Deoxycytidylate deaminase DCTD 1635 ENSG00000129187 Dctd (MGI:2444529) -chr4 183444635 183449063 4q35.1 4q35.1 615914 CDKN2AIP, CARF Cyclin-dependent kinase inhibitor 2A-interacting protein CDKN2AIP 55602 ENSG00000168564 Cdkn2aip (MGI:1918175) -chr4 183505057 183512428 4q35.1 4q35.1 604215 ING2, ING1L Inhibitor of growth 2 ING2 3622 ENSG00000168556 Ing2 (MGI:1916510) -chr4 183659276 183713591 4q35.1 4q35.1 614138 TRAPPC11, C4orf41, LGMDR18 Trafficking protein particle complex, subunit 11 TRAPPC11 60684 ENSG00000168538 Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3), Autosomal recessive Trappc11 (MGI:2444585) -chr4 183796330 184023529 4q35 4q35.1 617359 STOX2, KIAA1392 Storkhead box 2 STOX2 56977 ENSG00000173320 Stox2 (MGI:1918319) -chr4 184088705 184217872 4q35.1 4q35.1 616983 ENPP6 Ectonucleotide pyrophosphatase/phosphodiesterase 6 ENPP6 133121 ENSG00000164303 Enpp6 (MGI:2445171) -chr4 184382740 184474579 4q35.1 4q35.1 147576 IRF2 Interferon regulatory factor-2 IRF2 3660 ENSG00000168310 Irf2 (MGI:96591) -chr4 184627695 184649446 4q35 4q35.1 600636 CASP3, CPP32 Caspase 3, apoptosis-related cysteine protease CASP3 836 ENSG00000164305 Casp3 (MGI:107739) -chr4 184649671 184694951 4q35.1 4q35.1 615421 CCDC111, MYP22 Coiled-coil domain containing 111 PRIMPOL 201973 ENSG00000164306 Myopia 22, autosomal dominant, 615420 (3), Autosomal dominant Primpol (MGI:3603756) -chr4 184694084 184734095 4q35.1 4q35.1 611511 MLF1IP, CENPU, CENP50 MLF1-interacting protein (centromere protein U) CENPU 79682 ENSG00000151725 Cenpu (MGI:1919126) -chr4 184755594 184826592 4q34-q35 4q35.1 152425 ACSL1, FACL2, FACL1, LACS, ACS1 Acyl-CoA synthetase long-chain family member 1 ACSL1 2180 ENSG00000151726 Acsl1 (MGI:102797) -chr4 185018489 185021264 4q35.1 4q35.1 617546 HELT, HESL, MGN HELT basic helix-loop-helix transcription factor HELT 391723 ENSG00000187821 Helt (MGI:3040955) -chr4 185143265 185150381 4q35 4q35.1 103220 SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12A, PEOA2 Solute carrier family 25 (mitochondrial carrier) member 4 (adenine nucleotide translocator-1, skeletal muscle) SLC25A4 291 ENSG00000151729 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3), Autosomal dominant Slc25a4 (MGI:1353495) -chr4 185151722 185205442 4q35.1 4q35.1 616047 CFAP97, HMW, KIAA1430 Cilia- and flagella-associated protein 97 CFAP97 57587 ENSG00000164323 Cfap97 (MGI:1914006) -chr4 185362861 185397286 4q35.1 4q35.1 619020 LRP2BP, MEGBP LRP2-binding protein LRP2BP 55805 ENSG00000109771 Lrp2bp (MGI:1914870) -chr4 185396840 185400242 4q35 4q35.1 619021 ANKRD37 Ankyrin repeat domain-containing protein 37 ANKRD37 353322 ENSG00000186352 Ankrd37 (MGI:3603344) -chr4 185399536 185425963 4q35.1 4q35.1 611482 UFSP2, C4orf20, BHD, SEMDDR UFM1-specific peptidase 2 UFSP2 55325 ENSG00000109775 mutation identified in 1 BHD family ?Hip dysplasia, Beukes type, 142669 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974 (3), Autosomal dominant Ufsp2 (MGI:1913679) -chr4 185445181 185471751 4q35.1 4q35.1 609488 KMHN1 Cancer/testis antigen KM-HN-1 CCDC110 256309 ENSG00000168491 Ccdc110 (MGI:2685018) -chr4 185500659 185535506 4q35 4q35.1 605889 ALP Actinin-associated LIM protein PDLIM3 27295 ENSG00000154553 Pdlim3 (MGI:1859274) -chr4 185585522 185956371 4q35.1 4q35.1 616349 SORBS2, ARGBP2, KIAA0777 Sorbin and SH3 domains-containing protein 2 SORBS2 8470 ENSG00000154556 Sorbs2 (MGI:1924574) -chr4 186069155 186088072 4q35 4q35.1 603029 TLR3, IMD83 Toll-like receptor-3 TLR3 7098 ENSG00000164342 {HIV1 infection, resistance to}, 609423 (3); {Immunodeficiency 83, susceptibility to viral infections}, 613002 (3), Autosomal dominant, Autosomal recessive Tlr3 (MGI:2156367) -chr4 186191566 186213462 4q35.1 4q35.1-q35.2 608614 CYP4V2, BCD Cytochrome P450, family 4, subfamily V, polypeptide 2 CYP4V2 285440 ENSG00000145476 Bietti crystalline corneoretinal dystrophy, 210370 (3), Autosomal recessive Cyp4v3 (MGI:2142763) -chr4 186200000 190214555 4q35-qter 606282 DFNA24 Deafness, autosomal dominant 24 23723 Deafness, autosomal dominant 24, 606282 (2), Autosomal dominant -chr4 186200000 190214555 4q35 127600 DKBI Dyskeratosis, hereditary benign intraepithelial 80870 Dyskeratosis, hereditary benign intraepithelial, 127600 (2), Autosomal dominant -chr4 186200000 190214555 4q35 158900 FSHD1, FSHD1A Facioscapulohumeral muscular dystrophy 1 due to D4Z4 macrosatellite repeat on 4q35 Facioscapulohumeral muscular dystrophy 1, 158900 (4), Autosomal dominant -chr4 186215713 186258476 4q35 4q35.2 229000 KLKB1, KLK3, PKKD Kallikrein B plasma 1 (Fletcher factor) KLKB1 3818 ENSG00000164344 similar to F11 Fletcher factor (prekallikrein) deficiency, 612423 (3), Autosomal recessive Klkb1 (MGI:102849) -chr4 186265963 186290726 4q35 4q35.2 264900 F11 Coagulation factor XI (plasma thromboplastin antecedent) F11 2160 ENSG00000088926 not closely linked to MNS Factor XI deficiency, autosomal dominant, 612416 (3); Factor XI deficiency, autosomal recessive, 612416 (3) F11 (MGI:99481) -chr4 186532768 186555566 4q35.1 4q35.2 600665 MTNR1A Melatonin receptor 1A MTNR1A 4543 ENSG00000168412 Mtnr1a (MGI:102967) -chr4 186587788 186726695 4q34-q35 4q35.2 600976 FAT1, FAT FAT atypical cadherin 1 FAT1 2195 ENSG00000083857 Fat1 (MGI:109168) -chr4 187994043 188005045 4q35.2 4q35.2 614572 ZFP42, REX1 Zinc finger protein 42 ZFP42 132625 ENSG00000179059 Zfp42 (MGI:99187) -chr4 189940845 189963203 4q35 4q35.2 601278 FRG1, FSG1 Facioscapulohumeral muscular dystrophy region gene-1 FRG1 2483 ENSG00000109536 Frg1 (MGI:893597) -chr4 190021168 190022664 4q35 4q35.2 615581 DUX4L9, DUX4C Double homeobox 4-like 9 DUX4L9 100288711 ENSG00000224807 -chr4 190024366 190027255 4q35 4q35.2 609032 FRG2 Facioscapulohumeral muscular dystrophy region gene 2 FRG2 448831 ENSG00000205097 Frg2f1 (MGI:3035485) -chr4 190064501 190067863 4q35 4q35.2 614865 DBET D4A4 binding element transcript, noncoding DBET 100419743 ENSG00000281591 -chr4 190067934 190069218 4q35.2 4q35.2 611442 DUX2 Double homeobox protein 2 DUX4L8 26583 ENSG00000281720 ?10q26.3 -chr4 190173773 190185910 4q35 4q35.2 606009 DUX4 Double homeo box protein 4 DUX4 100288687 ENSG00000260596 -chr4 0 190214555 Chr.4 187320 TS13 Temperature sensitivity complementation, ts13 7896 -chr5 0 48800000 5p 108800 ASD1 Atrial septal defect 1 431 max lod at D5S406 Atrial septal defect 1, 108800 (2), Autosomal dominant -chr5 0 4400000 5p15.33 613059 BCC3 Basal cell carcinoma, susceptibility to, 3 100307120 {Basal cell carcinoma, susceptibility to, 3}, 613059 (2) -chr5 0 4400000 5p15.33 613033 GLM8 Glioma susceptibility 8 100316847 associated with rs2736100 {Glioma susceptibility 8}, 613033 (2) -chr5 0 4400000 5p15.33 612571 LNCR3 Lung cancer susceptibility 3 100271687 associated with rs402710 and rs2736100 {Lung cancer susceptibility 3}, 612571 (2) -chr5 0 42500000 5p15.33-p13.1 608850 MCDR3 Macular dystrophy, retinal, 3 317668 maximum lod at D5S630 Macular dystrophy, retinal, 3, 608850 (2), Autosomal dominant -chr5 0 48800000 5p 601888 MHS6 Malignant hyperthermia susceptibility 6 4266 {Malignant hyperthermia susceptibility 6}, 601888 (2) -chr5 0 15000000 5p15.33-p15.2 612554 MYP16 Myopia 16 100270641 max lod at D5S2505 Myopia 16, 612554 (2) -chr5 218308 264815 5p15 5p15.33 600857 SDHA, SDH1, SDHF, CMD1GG, PGL5, MC2DN1, NDAXOA Succinate dehydrogenase complex, subunit A, flavoprotein SDHA 6389 ENSG00000073578 copy on 3q29 Cardiomyopathy, dilated, 1GG, 613642 (3), Autosomal recessive; Mitochondrial complex II deficiency, nuclear type 1, 252011 (3), Autosomal recessive; Neurodegeneration with ataxia and late-onset optic atrophy, 619259 (3), Autosomal dominant; Paragangliomas 5, 614165 (3), Autosomal dominant Sdha (MGI:1914195) -chr5 271645 314973 5p15.33 5p15.33 601057 PDCD6, ALG2 Programmed cell death 6 PDCD6 10016 ENSG00000249915 Pdcd6 (MGI:109283) -chr5 321713 438284 5p15.3 5p15.33 606517 AHRR, KIAA1234 Arylhydrocarbon receptor repressor AHRR 57491 ENSG00000063438 Ahrr (MGI:1333776) -chr5 443175 467289 5p15.33 5p15.33 608186 EXOC3, SEC6 Exocyst complex component 3 EXOC3 11336 ENSG00000180104 Exoc3 (MGI:2443972) -chr5 470455 524448 5p15.3 5p15.33 182307 SLC9A3, NHE3, DIAR8 Solute carrier family 9 (sodium/hydrogen exchanger), member 3 SLC9A3 6550 ENSG00000066230 pseudogene on chr.10 Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive Slc9a3 (MGI:105064) -chr5 612339 668743 5p15.33 5p15.33 616475 CEP72, KIAA1519 Centrosomal protein, 72kD CEP72 55722 ENSG00000112877 Cep72 (MGI:1921720) -chr5 659861 700726 5p15.3 5p15.33 608773 TPPP, P25, P24 Tubulin polymerization-promoting protein TPPP 11076 ENSG00000171368 Tppp (MGI:1920198) -chr5 863734 892802 5p15.33 5p15.33 618465 BRD9 Bromodomain-containing protein 9 BRD9 65980 ENSG00000028310 Brd9 (MGI:2145317) -chr5 892883 919347 5p15.33 5p15.33 604507 TRIP13, 16E1BP, MVA3, OOMD9 Thyroid hormone receptor interactor 13 TRIP13 9319 ENSG00000071539 Oocyte maturation defect 9, 619011 (3), Autosomal recessive; Mosaic variegated aneuploidy syndrome 3, 617598 (3), Autosomal recessive Trip13 (MGI:1916966) -chr5 1008801 1038942 5p15.3 5p15.33 607852 NKD2 NKD inhibitor of WNT signaling pathway 2 NKD2 85409 ENSG00000145506 Nkd2 (MGI:1919543) -chr5 1050383 1155886 5p15.3 5p15.33 604879 SLC12A7, KCC4 Solute carrier family 12 (potassium/chloride transporters), member 7 SLC12A7 10723 ENSG00000113504 Slc12a7 (MGI:1342283) -chr5 1201594 1225110 5p15.33 5p15.33 608893 SLC6A19, HND Solute carrier family 6 (neurotransmitter transporter), member 19 SLC6A19 340024 ENSG00000174358 Iminoglycinuria, digenic, 242600 (3), Digenic recessive, Autosomal recessive; Hartnup disorder, 234500 (3), Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant Slc6a19 (MGI:1921588) -chr5 1225380 1246188 5p15.33 5p15.33 610300 SLC6A18, XTRP2 Solute carrier family 6 (neurotransmitter transporter), member 18 SLC6A18 348932 ENSG00000164363 Slc6a18 (MGI:1336892) -chr5 1253166 1295067 5p15.33 5p15.33 187270 TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9 Telomerase reverse transcriptase TERT 7015 ENSG00000164362 deleted in cri du chat {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 9}, 615134 (3); {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3), Autosomal dominant, Autosomal recessive; {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3), Autosomal dominant, Autosomal recessive; {Leukemia, acute myeloid}, 601626 (3), Somatic mutation, Autosomal dominant Tert (MGI:1202709) -chr5 1317751 1345098 5p15.33 5p15.33 612585 CLPTM1L, CRR9 CLPTM1-like protein CLPTM1L 81037 ENSG00000049656 Clptm1l (MGI:2442892) -chr5 1392793 1445439 5p15.3 5p15.33 126455 SLC6A3, DAT1, PKDYS1 Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 SLC6A3 6531 ENSG00000142319 Parkinsonism-dystonia, infantile, 1, 613135 (3), Autosomal recessive; {Nicotine dependence, protection against}, 188890 (3) Slc6a3 (MGI:94862) -chr5 1461426 1523959 5p15.33 5p15.33 610472 AYTL2, LPCAT, LPCAT1 Acyltransferase-like 2 LPCAT1 79888 ENSG00000153395 Lpcat1 (MGI:2384812) -chr5 1798384 1801431 5p15.3 5p15.33 611842 MRPL36 Mitochondrial ribosomal protein L36 MRPL36 64979 ENSG00000171421 Mrpl36 (MGI:2137228) -chr5 1801406 1816047 5pter-p15.33 5p15.33 603848 NDUFS6, MC1DN9 NADH-ubiquinone oxidoreductase subunit S6 NDUFS6 4726 ENSG00000145494 Mitochondrial complex I deficiency, nuclear type 9, 618232 (3), Autosomal recessive Ndufs6 (MGI:107932) -chr5 1877412 1887178 5p15.3 5p15.33 606199 IRX4 Iroquois homeobox protein 4 IRX4 50805 ENSG00000113430 Irx4 (MGI:1355275) -chr5 2707929 2751676 5p15.3 5p15.33 606198 IRX2 Iroquois homeo box protein 2 IRX2 153572 ENSG00000170561 Irx2 (MGI:1197526) -chr5 2712590 2715236 5p15.33 5p15.33 615764 LSINCT5 Long stress-induced noncoding transcript 5 LSINCT5 101234261 ENSG00000281560 -chr5 2751892 2758577 5p15.33 5p15.33 610522 CEI Coordinated expression to IRXA2 C5orf38 153571 -chr5 3595831 3601402 5p15.3 5p15.33 606197 IRX1 Iroquois homeo box protein 1 IRX1 79192 ENSG00000170549 Irx1 (MGI:1197515) -chr5 5140329 5320303 5p15 5p15.32 607510 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 ADAMTS16 170690 ENSG00000145536 Adamts16 (MGI:2429637) -chr5 5422672 5490219 5p15.32 5p15.32 617958 ICE1, KIAA0947 Interactor of little elongation complex ELL subunit 1 ICE1 23379 ENSG00000164151 Ice1 (MGI:2385865) -chr5 6371873 6378546 5p15.31 5p15.31 612382 MED10, NUT2 Mediator complex subunit 10 MED10 84246 ENSG00000133398 Med10 (MGI:106331) -chr5 6437346 6496722 5p15.3 5p15.31 615832 UBE2QL1 Ubiquitin-conjugating enzyme E2Q family-like protein 1 UBE2QL1 134111 ENSG00000215218 Ube2ql1 (MGI:1924230) -chr5 6582135 6588499 5p15.31 5p15.31 616385 LINC01018, SRHC Long intergenic noncoding RNA 1018 LINC01018 255167 ENSG00000250056 -chr5 6599238 6633043 5p15.31 5p15.31 610916 NSUN2, TRM4, SAKI, MISU, MRT5 NOP2/SUN RNA methyltransferase family, member 2 NSUN2 54888 ENSG00000037474 Mental retardation, autosomal recessive 5, 611091 (3), Autosomal recessive Nsun2 (MGI:107252) -chr5 6633439 6674385 5p15 5p15.31 184753 SRD5A1 Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) SRD5A1 6715 ENSG00000145545 pseudogene on X Srd5a1 (MGI:98400) -chr5 6713431 6757044 5p15 5p15.31 605198 TENT4A, POLS, TRF4, POLK Terminal nucleotidyltransferase 4A TENT4A 11044 ENSG00000112941 Tent4a (MGI:2682295) -chr5 7396137 7830080 5p15.3 5p15.31 103071 ADCY2 Adenylyl cyclase-2, brain ADCY2 108 ENSG00000078295 Adcy2 (MGI:99676) -chr5 7851185 7901123 5p15.3-p15.2 5p15.31 602568 MTRR Methionine synthase reductase MTRR 4552 ENSG00000124275 Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive Mtrr (MGI:1891037) -chr5 7859158 7869036 5p15.31 5p15.31 617530 FASTKD3 Fast kinase domains 3 FASTKD3 79072 ENSG00000124279 Fastkd3 (MGI:1916827) -chr5 9035029 9546120 5p15.2 5p15.31 609297 SEMA5A, SEMF Semaphorin 5a SEMA5A 9037 ENSG00000112902 Sema5a (MGI:107556) -chr5 9627346 9903875 5p15 5p15.3-p15.2 604796 TRB7, T2R1 Taste receptor, family B, member 7 TAS2R1 50834 ENSG00000169777 Tas2r119 (MGI:2681253) -chr5 9900000 28900000 5p15.2-p14 606770 ADIPQTL2, CAQ5 Adiponectin, serum level of, QTL 2 171511 near D5S817 {Adiponectin, serum level of, QTL2}, 606770 (2) -chr5 9900000 23300000 5p15.2-p14.3 610213 ANIB4 Aneurysm, intracranial berry, 4 724058 max lod at D5S1954 Aneurysm, intracranial berry, 4, 610213 (2) -chr5 10225506 10249887 5p15.2 5p15.2 618568 ATPSCKMT, FAM173B ATP synthase C subunit lysine N-methyltransferase ATPSCKMT 134145 ENSG00000150756 Atpsckmt (MGI:1915323) -chr5 10249920 10266411 5p15.2 5p15.2 610150 CCT5, KIAA0098, CCTE chaperonin containing TCP1, subunit 5 (epsilon) CCT5 22948 ENSG00000150753 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3), Autosomal recessive Cct5 (MGI:107185) -chr5 10277594 10307901 5p15.2 5p15.2 613379 CMBL Carboxymethylenebutenolidase-like protein CMBL 134147 ENSG00000164237 Cmbl (MGI:1916824) -chr5 10353692 10440387 5p15.2 5p15.2 613297 MARCH6, TEB4, DOA10, KIAA0597, FAME3 Membrane-associated RING-CH finger protein 6 MARCHF6 10299 ENSG00000145495 Epilepsy, familial adult myoclonic, 3, 613608 (3), Autosomal dominant Marchf6 (MGI:2442773) -chr5 10441878 10482806 5p15.2 5p15.2 611756 ROPN1L, ASP ROPN1-like protein ROPN1L 83853 ENSG00000145491 Ropn1l (MGI:2182357) -chr5 10679229 10761233 5p15.2 5p15.2 600954 DAP Death-associated protein DAP 1611 ENSG00000112977 Dap (MGI:1918190) -chr5 10971835 11904445 5p15.2 5p15.2 604275 CTNND2, NPRAP Catenin, delta-2 CTNND2 1501 ENSG00000169862 Ctnnd2 (MGI:1195966) -chr5 12574856 12805182 5p15.2 5p15.2 617097 LINC01194, TAG Long intergenic noncoding RNA 1194 LINC01194 404663 -chr5 13690327 14011828 5p15-p14 5p15.2 603335 DNAH5, HL1, PCD, CILD3 Dynein, axonemal, heavy chain 5 DNAH5 1767 ENSG00000039139 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3), Autosomal recessive Dnah5 (MGI:107718) -chr5 14143341 14510203 5p15.1-p14 5p15.2 601893 TRIO, MRD44, MRD63 Triple functional domain TRIO 7204 ENSG00000038382 Intellectual developmental disorder, autosomal dominant 44, with microcephaly, 617061 (3), Autosomal dominant; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, 618825 (3), Autosomal dominant Trio (MGI:1927230) -chr5 14660793 14716551 5p15.2 5p15.2 615712 OTULIN, FAM105B, GUM, AIPDS OTU deubiquitinase with linear linkage specificity OTULIN 90268 ENSG00000154124 Autoinflammation, panniculitis, and dermatosis syndrome, 617099 (3), Autosomal recessive Otulin (MGI:3577015) -chr5 14704799 14871777 5p15.2-p14.1 5p15.2 605145 ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD ANKH inorganic pyrophosphate transport regulator ANKH 56172 ENSG00000154122 Chondrocalcinosis 2, 118600 (3), Autosomal dominant; Craniometaphyseal dysplasia, 123000 (3), Autosomal dominant Ank (MGI:3045421) -chr5 15000000 33800000 5p15.1-p13.3 613969 MYP19 Myopia 19, autosomal dominant 100653370 highest lod at D5S419 Myopia 19, 613969 (2), Autosomal dominant -chr5 15000000 18400000 5p15.1 608098 PVNH3 Periventricular nodular heterotopia 3 100302681 Periventricular nodular heterotopia 3, 608098 (2) -chr5 15000000 18400000 5p15 613637 TST2 Tuberculin skin test reactivity quantitative trait locus 100526823 max lod at 16:2.70Mb [Tuberculin skin test reactivity QTL], 613637 (2) -chr5 15500179 15939795 5p15.1 5p15.1 605656 FBXL7, FBL7 F-box and leucine-rich repeat protein 7 FBXL7 23194 ENSG00000183580 Fbxl7 (MGI:3052506) -chr5 16067138 16179790 5p15.1 5p15.1 613338 MARCH11 Membrane-associated RING-CH finger protein 11 MARCHF11 441061 ENSG00000183654 Marchf11 (MGI:3608327) -chr5 16451518 16465799 5p15.1 5p15.1 608694 ZNF622, ZPR9 Zinc finger protein 622 ZNF622 90441 ENSG00000173545 Zfp622 (MGI:1289282) -chr5 16473037 16617095 5p15.1 5p15.1 613114 FAM134B, HSAN2B Family with sequence similarity 134, member B RETREG1 54463 ENSG00000154153 Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3), Autosomal recessive Retreg1 (MGI:1913520) -chr5 16661906 16936287 5p15.1-p14.3 5p15.1 601481 MYO10 Myosin X MYO10 4651 ENSG00000145555 Myo10 (MGI:107716) -chr5 17216822 17276833 5p15.1-p14 5p15.1 605940 BASP1, CAP23, NAP22 Brain-abundant signal protein, membrane-attached, 1 BASP1 10409 ENSG00000176788 Basp1 (MGI:1917600) -chr5 19471295 20575885 5p15.2-p15.1 5p14.3 603019 CDH18, CDH14 Cadherin 18 CDH18 1016 ENSG00000145526 Cdh18 (MGI:1344366) -chr5 21750672 22853343 5p14-p13 5p14.3 600562 CDH12, CDHB Cadherin-12 (N-cadherin 2) CDH12 1010 ENSG00000154162 pseudogene on 5q13 in SMA region Cdh12 (MGI:109503) -chr5 22142351 22152271 5p14 5p14.3 176793 PMCHL1 Pro-melanin-concentrating hormone-like 1 PMCHL1 5369 ENSG00000168967 -chr5 23507154 23528092 5p14.2 5p14.2 609760 PRDM9 PR domain-containing protein 9 PRDM9 56979 ENSG00000164256 Prdm9 (MGI:2384854) -chr5 24487099 24644977 5p14-p13 5p14.2-p14.1 604555 CDH10 Cadherin 10 CDH10 1008 ENSG00000040731 Cdh10 (MGI:107436) -chr5 24600000 28900000 5p14 157960 MLVI2 Moloney leukemia virus integration site-2 4309 -chr5 26880596 27038585 5p14 5p14.1 609974 CDH9 Cadherin 9 CDH9 1007 ENSG00000113100 Cdh9 (MGI:107433) -chr5 28900000 38400000 5p13.3-p13.2 607004 BDA1B Brachydactyly, type A1, locus B 246260 Brachydactyly, type A1, B, 607004 (2), Autosomal dominant -chr5 31193685 31329145 5p15.1-p14 5p13.3 603007 CDH6 Cadherin 6 CDH6 1004 ENSG00000113361 Cdh6 (MGI:107435) -chr5 31400493 31532141 5p14-p13 5p13.3 608828 RNASEN, DROSHA, RANSE3L, RN3 Ribonuclease III, nuclear DROSHA 29102 ENSG00000113360 Drosha (MGI:1261425) -chr5 31639130 32110931 5p13.2 5p13.3 610697 PDZD2, PAPIN, PIN1, AIPC PDZ domain containing 2 PDZD2 23037 ENSG00000133401 Pdzd2 (MGI:1922394) -chr5 32124710 32174318 5p13.3 5p13.3 612207 GOLPH3, GPP34, MIDAS Golgi phosphoprotein 3 GOLPH3 64083 ENSG00000113384 Golph3 (MGI:1913879) -chr5 32227006 32312938 5p13.3 5p13.3 606501 MTMR12, 3PAP, KIAA1682 Myotubularin-related protein 12 MTMR12 54545 ENSG00000150712 Mtmr12 (MGI:2443034) -chr5 32354349 32444739 5p13.3 5p13.3 615635 ZFR Zinc finger RNA-binding protein ZFR 51663 ENSG00000056097 Zfr (MGI:1341890) -chr5 32531777 32604078 5p13.3 5p13.3 600503 SUB1, PC4, p15 SUB1 regulator of transcription SUB1 10923 ENSG00000113387 Sub1 (MGI:104811) -chr5 32689075 32791719 5p14-p12 5p13.3 108962 NPR3, ANPRC Natriuretic peptide receptor C NPR3 4883 ENSG00000113389 ?Hypertension, salt-resistant (1) Npr3 (MGI:97373) -chr5 33440695 33468090 5p13-cen 5p13.3 187790 TARS1, TARS, TTD7 Threonyl-tRNA synthetase 1 TARS1 6897 ENSG00000113407 linked to LARS Trichothiodystrophy 7, nonphotosensitive, 618546 (3), Autosomal recessive Tars (MGI:106314) -chr5 33523534 33892179 5q35 5p13.3-p13.2 606184 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 ADAMTS12 81792 ENSG00000151388 Adamts12 (MGI:2146046) -chr5 33800000 38400000 5p13.2 612595 MS3 Multiple sclerosis, susceptibility to, 3 100271695 associated with rs6897932 {Multiple sclerosis, susceptibility to, 3}, 612595 (2) -chr5 33936385 33938917 5p15.1-p14 5p13.2 609445 RXFP3, RLN3R1, SALPR, GPCR135 Relaxin/insulin-like family peptide receptor 3 RXFP3 51289 ENSG00000182631 Rxfp3 (MGI:2441827) -chr5 33944622 33984692 5p13.3 5p13.2 606202 SLC45A2, MATP, AIM1, SHEP5, OCA4 Solute carrier family 45, member 2 SLC45A2 51151 ENSG00000164175 [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3), Autosomal recessive; Albinism, oculocutaneous, type IV, 606574 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3), Autosomal recessive Slc45a2 (MGI:2153040) -chr5 33986164 34008049 5p13.2-q11.1 5p13.2 604489 AMACR, CBAS4, AMACRD Alpha-methylacyl-CoA racemase AMACR 23600 ENSG00000242110 Alpha-methylacyl-CoA racemase deficiency, 614307 (3), Autosomal recessive; Bile acid synthesis defect, congenital, 4, 214950 (3), Autosomal recessive Amacr (MGI:1098273) -chr5 34017857 34244723 5p13 5p13.2 612045 C1ATNF3, CTRP3, CORS26 C1q- and tumor necrosis factor-related protein 3 C1QTNF3 114899 ENSG00000082196 C1qtnf3 (MGI:1932136) -chr5 34656302 34832611 5p13.3-p13.2 5p13.2 606586 RAI14, KIAA1334 Retinoic acid-induced 14 RAI14 26064 ENSG00000039560 Rai14 (MGI:1922896) -chr5 34839163 34925681 5p13.2 5p13.2 616344 TTC23L Tetratricopeptide repeat domain-containing protein 23-like TTC23L 153657 ENSG00000205838 Ttc23l (MGI:1923027) -chr5 34905259 34915503 5p13.3-p13.2 5p13.2 603153 RAD1 RAD1 checkpoint DNA exonuclease RAD1 5810 ENSG00000113456 Rad1 (MGI:1316678) -chr5 34915710 34925995 5p13.2 5p13.2 618466 BRIX1 Biogenesis of ribosomes, Xenopus, homolog of, 1 BRIX1 55299 ENSG00000113460 Brix1 (MGI:1915082) -chr5 34929539 34958963 5p13.2 5p13.2 617048 DNAJC21, DNAJA5, BMFS3 DNAJ/HSP40 homolog, subfamily C, member 21 DNAJC21 134218 ENSG00000168724 Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive Dnajc21 (MGI:1925371) -chr5 34998098 35048187 5p13 5p13.2 612471 AGXT2, AGT2, BAIBA Alanine-glyoxylate aminotransferase 2 AGXT2 64902 ENSG00000113492 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3), Autosomal recessive Agxt2 (MGI:2146052) -chr5 35048755 35230723 5p13.2 5p13.2 176761 PRLR, MFAB, HPRL Prolactin receptor PRLR 5618 ENSG00000113494 Multiple fibroadenomas of the breast, 615554 (3), Autosomal dominant; Hyperprolactinemia, 615555 (3), Autosomal dominant, Autosomal recessive Prlr (MGI:97763) -chr5 35617366 35814610 5p13.2 5p13.2 610172 SPEF2, KPL2, KIAA1770, SPGF43 Sperm flagellar protein 2 SPEF2 79925 ENSG00000152582 Spermatogenic failure 43, 618751 (3), Autosomal recessive Spef2 (MGI:2443727) -chr5 35856890 35879602 5p13 5p13.2 146661 IL7R, IL7RA, CD127 Interleukin-7 receptor IL7R 3575 ENSG00000168685 Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3), Autosomal recessive Il7r (MGI:96562) -chr5 35904287 35938778 5p13.2 5p13.2 618799 CAPSL Calcyphosine-like protein CAPSL 133690 ENSG00000152611 Capsl (MGI:1922818) -chr5 35951005 36001054 5p13.2 5p13.2 616383 UGT3A1 Uridine diphosphate glucuronosyltransferase 3 family, member A1 UGT3A1 133688 ENSG00000145626 Ugt3a1,Ugt3a2 (MGI:2145969,MGI:2146055) -chr5 36035020 36071357 5p13.2 5p13.2 616384 UGT3A2 Uridine diphosphate glucuronosyltransferase 3 family, member A2 UGT3A2 167127 ENSG00000168671 Ugt3a1,Ugt3a2 (MGI:2145969,MGI:2146055) -chr5 36098406 36151960 5p13.2 5p13.2 619490 LMBRD2 LMBR1 domain-containing protein 2 LMBRD2 92255 ENSG00000164187 -chr5 36152066 36184318 5p13 5p13.2 601436 SKP2 S-phase kinase-associated protein 2 (p45) SKP2 6502 ENSG00000145604 Skp2 (MGI:1351663) -chr5 36192588 36242278 5p13.2 5p13.2 615787 NADK2, C5orf33, DECRD NAD kinase 2, mitochondrial NADK2 133686 ENSG00000152620 2,4-dienoyl-CoA reductase deficiency, 616034 (3), Autosomal recessive Nadk2 (MGI:1915896) -chr5 36246912 36301901 6p13.2 5p13.2 616391 RANBP3L RAN-binding protein 3-like RANBP3L 202151 ENSG00000164188 Ranbp3l (MGI:2444654) -chr5 36606605 36688333 5p13 5p13.2 600111 SLC1A3, EAAT1, EA6 Solute carrier family 1 (glial high affinity glutamate transporter), member 3 SLC1A3 6507 ENSG00000079215 Episodic ataxia, type 6, 612656 (3), Autosomal dominant Slc1a3 (MGI:99917) -chr5 36876768 37066412 5p13.1 5p13.2 608667 NIPBL, CDLS1 Nipped-B-like (delangin) NIPBL 25836 ENSG00000164190 Cornelia de Lange syndrome 1, 122470 (3), Autosomal dominant Nipbl (MGI:1913976) -chr5 37063927 37249498 5p13.2 5p13.2 614571 CPLANE1, C5orf42, JBTS17, OFD6 Ciliogenesis and planar polarity effector 1 CPLANE1 65250 ENSG00000197603 Orofaciodigital syndrome VI, 277170 (3), Autosomal recessive; Joubert syndrome 17, 614615 (3), Autosomal recessive Cplane1 (MGI:1920942) -chr5 37288136 37371105 5p13 5p13.2 606694 NUP155, KIAA0791, ATFB15 Nucleoporin, 155kD NUP155 9631 ENSG00000113569 mutation identified in 1 ATFB15 family ?Atrial fibrillation 15, 615770 (3), Autosomal recessive Nup155 (MGI:2181182) -chr5 37379317 37753434 5p13.2 5p13.2 617233 WDR70 WD repeat-containing protein 70 WDR70 55100 ENSG00000082068 Wdr70 (MGI:1921020) -chr5 37812676 37840043 5p13.1-p12 5p13.2 600837 GDNF, HSCR3 Glial cell line derived neurotrophic factor GDNF 2668 ENSG00000168621 {Hirschsprung disease, susceptibility to, 3}, 613711 (3), Autosomal dominant Gdnf (MGI:107430) -chr5 38258558 38465479 5p13.2-p13.1 5p13.2-p13.1 617683 EGFLAM, PIKA, AGRINL EGF-like, fibronectin type III, and laminin G domains-containing protein EGFLAM 133584 ENSG00000164318 Egflam (MGI:2146149) -chr5 38400000 42500000 5p13 608906 ADHD4 Attention deficit-hyperactivity disorder, susceptibility to, 4 450090 {Attention deficit-hyperactivity disorder}, 143465 (2), Autosomal dominant -chr5 38400000 42500000 5p13 613174 DUP5p13, C5DUPp13 Chromosome 5p13 duplication syndrome Chromosome 5p13 duplication syndrome, 613174 (4), Isolated cases -chr5 38400000 67400000 5p13-q12 610262 HYT6 Hypertension, essential, susceptibility to, 6 100188808 {Hypertension, essential, susceptibility to, 6}, 145500 (2), Multifactorial -chr5 38400000 42500000 5p13.1 612262 IBD18 Inflammatory bowel disease 18 100190931 associated with rs1373692 {Inflammatory bowel disease 18}, 612262 (2) -chr5 38400000 42500000 5p13 610170 KYPSC1 Kyphoscoliosis 1 780921 Kyphoscoliosis 1, 610170 (2) -chr5 38474667 38606289 5p13.1 5p13.1 151443 LIFR, STWS, SWS, SJS2 Leukemia inhibitory factor receptor LIFR 3977 ENSG00000113594 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3), Autosomal recessive Lifr (MGI:96788) -chr5 38846011 38945578 5p13.1 5p13.1 601743 OSMR, OSMRB, PLCA1 Oncostatin M receptor OSMR 9180 ENSG00000145623 Amyloidosis, primary localized cutaneous, 1, 105250 (3), Autosomal dominant Osmr (MGI:1330819) -chr5 38937919 39074420 5p13.1 5p13.1 609022 RICTOR, AVO3, KIAA1999 Rapamycin-insensitive campion of mTOR RICTOR 253260 ENSG00000164327 Rictor (MGI:1926007) -chr5 39105251 39274499 5p13.1 5p13.1 602731 FYB1, SLAP130, ADAP, THC3 FYN-binding protein 1 FYB1 2533 ENSG00000082074 Thrombocytopenia 3, 273900 (3), Autosomal recessive Fyb (MGI:1346327) -chr5 39284139 39364494 5p13 5p13.1 120940 C9, C9D, ARMD15 Complement component-9 C9 735 ENSG00000113600 C9 deficiency, 613825 (3); {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3) C9 (MGI:1098282) -chr5 39371676 39424979 5p13 5p13.1 601236 DAB2, DOC2 Disabled, Drosophila, homolog of, 2 (differentially expressed in ovarian cancer-2) DAB2 1601 ENSG00000153071 Dab2 (MGI:109175) -chr5 40679914 40740935 5p13.1 5p13.1 601586 PTGER4 Prostaglandin E receptor 4, EP4 subtype PTGER4 5734 ENSG00000171522 Ptger4 (MGI:104311) -chr5 40759388 40798373 5p12 5p13.1 602739 PRKAA1 Protein kinase, AMP-activated, catalytic, alpha-1 PRKAA1 5562 ENSG00000132356 Prkaa1 (MGI:2145955) -chr5 40825261 40835221 5p 5p13.1 604181 RPL37 Ribosomal protein L37 RPL37 6167 ENSG00000145592 Rpl37rt,Rpl37 (MGI:3651519,MGI:1914531) -chr5 40841196 40855353 5p13.1-p12 5p13.1 609986 CARD6, CINCIN1 Caspase recruitment domain-containing protein 6 CARD6 84674 ENSG00000132357 Card6 (MGI:3032959) -chr5 40909496 40984642 5p13 5p13.1 217070 C7 Complement component-7 C7 730 ENSG00000112936 C7 deficiency, 610102 (3) C7 (MGI:88235) -chr5 41142115 41261485 5p13 5p13.1 217050 C6 Complement component-6 C6 729 ENSG00000039537 C6 deficiency, 612446 (3); Combined C6/C7 deficiency (3) C6 (MGI:88233) -chr5 41306951 41510600 5p13.1 5p13.1 617016 PLCXD3 Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 3 PLCXD3 345557 ENSG00000182836 Plcxd3 (MGI:2442605) -chr5 41730064 41870534 5p13 5p13.1 601424 OXCT1, OXCT, SCOT 3-oxoacid CoA transferase 1 OXCT1 5019 ENSG00000083720 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3), Autosomal recessive Oxct1 (MGI:1914291) -chr5 41918060 42040229 5p12 5p13.1 609090 FBXO4, FBX4 F-box only protein 4 FBXO4 26272 ENSG00000151876 Fbxo4 (MGI:2146220) -chr5 42423438 42721877 5p13-p12 5p13-p12 600946 GHR, GHIP Growth hormone receptor GHR 2690 ENSG00000112964 Laron dwarfism, 262500 (3), Autosomal recessive; Increased responsiveness to growth hormone, 604271 (3), Autosomal dominant; Growth hormone insensitivity, partial, 604271 (3), Autosomal dominant; {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal dominant, Autosomal recessive Ghr (MGI:95708) -chr5 42799879 42811891 5p11 5p12 601484 SELENOP, SEPP1 Selenoprotein P SELENOP 6414 ENSG00000250722 Selenop (MGI:894288) -chr5 43039370 43043246 5p12 5p12 611296 ANXA2R, C5orf39, AX2R, AXIIR Annexin A2 receptor ANXA2R 389289 ENSG00000177721 Gm36079 (MGI:5595238) -chr5 43120913 43176323 5p12-p11 5p12 604073 ZNF131 Zinc finger protein -31 ZNF131 7690 ENSG00000172262 Zfp131 (MGI:1919715) -chr5 43287469 43313476 5p14-p13 5p12 142940 HMGCS1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 HMGCS1 3157 ENSG00000112972 like HMGCR, regulated transcriptionally by steroid Hmgcs1 (MGI:107592) -chr5 43356971 43412390 5p12 5p12 605240 CCL28 Chemokine, C-C motif, ligand 28 CCL28 56477 ENSG00000151882 Ccl28 (MGI:1861731) -chr5 43526266 43557410 5p12 5p12 605184 PAIP1 Polyadenylate-binding protein-interacting protein 1 PAIP1 10605 ENSG00000172239 Paip1 (MGI:2384993) -chr5 43601091 43707395 5p12 5p12 607878 NNT, GCCD4 Nicotinamide nucleotide transhydrogenase NNT 23530 ENSG00000112992 Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3), Autosomal recessive Nnt (MGI:109279) -chr5 44300246 44389705 5p13-p12 5p12 602115 FGF10 Fibroblast growth factor-10 FGF10 2255 ENSG00000070193 Aplasia of lacrimal and salivary glands, 180920 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant Fgf10 (MGI:1099809) -chr5 44808946 44815513 5p12-q11 5p12 611991 MRPS30 Mitochondrial ribosomal protein S30 MRPS30 10884 ENSG00000112996 Mrps30 (MGI:1926237) -chr5 45254947 45696379 5p12 5p12 602780 HCN1, BCNG1, DEE24, GEFSP10 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 HCN1 348980 ENSG00000164588 Developmental and epileptic encephalopathy 24, 615871 (3), Autosomal dominant; Generalized epilepsy with febrile seizures plus, type 10, 618482 (3), Autosomal dominant Hcn1 (MGI:1096392) -chr5 48800000 181538259 5q 609657 BSZQTL2 Bone size quantitative trait locus 2 100188794 {Bone size QTL}, 609657 (2) -chr5 50396191 50443298 5q11.1 5q11.1 615669 EMB, GP70 Embigin EMB 133418 ENSG00000170571 Emb (MGI:95321) -chr5 51383447 51394729 5q 5q11.1 600366 ISL1 ISL1 transcription factor, LIM/homeodomain (islet-1) ISL1 3670 ENSG00000016082 between D5S395 and D5S407; proximal 5q Isl1 (MGI:101791) -chr5 51400000 59600000 5q11.2 614200 BDPLT9 Bleeding disorder, platelet-type, 9 116814567 Bleeding disorder, platelet-type, 9, 614200 (2), Autosomal dominant -chr5 52787915 52959208 5q11.2 5q11.2 192968 ITGA1, VLA1 Integrin, alpha-1 ITGA1 3672 ENSG00000213949 Itga1 (MGI:96599) -chr5 52787915 52804043 5q11.2 5q11.2 605757 PELO Pelota mRNA surveillance and ribosome rescue factor PELO 53918 ENSG00000152684 Pelo (MGI:2145154) -chr5 52989351 53094778 5q23-q31 5q11.2 192974 ITGA2, CD49B, BR Integrin, alpha-2 (CD49B; alpha-2 subunit of VLA-2 receptor; platelet antigen Br) ITGA2 3673 ENSG00000164171 Itga2 (MGI:96600) -chr5 53095678 53109756 5q11 5q11.2 603708 MOCS2, MPTS, MOCODB Molybdenum cofactor synthesis-2 MOCS2 4338 ENSG00000164172 Molybdenum cofactor deficiency B, 252160 (3), Autosomal recessive Mocs2 (MGI:1336894) -chr5 53480337 53487133 5q11.2 5q11.2 136470 FST, FS Follistatin FST 10468 ENSG00000134363 Fst (MGI:95586) -chr5 53560609 53683337 5q11.1 5q11.2 602694 NDUFS4, AQDQ, MC1DN1 NADH-ubiquinone oxidoreductase subunit S4 NDUFS4 4724 ENSG00000164258 Mitochondrial complex I deficiency, nuclear type 1, 252010 (3), Autosomal recessive Ndufs4 (MGI:1343135) -chr5 54455698 54456376 5q11.2 5q11.2 604624 HSPB3, HSPL27, HMN2C, DHMN2C Heat-shock 27kD protein 3 HSPB3 8988 ENSG00000169271 mutation identified in 1 HMN2C family ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3), Autosomal dominant Hspb3 (MGI:1928479) -chr5 54977866 54985592 5q11.2 5q11.2 601521 ESM1 Endothelial cell-specific molecule 1 ESM1 11082 ENSG00000164283 Esm1 (MGI:1918940) -chr5 55024255 55034569 5q11.2 5q11.2 600784 GZMK, TRYP2 Granzyme K GZMK 3003 ENSG00000113088 Gzmk (MGI:1298232) -chr5 55102645 55110251 5q11-q12 5q11.2 140050 GZMA, CTLA3, HFSP Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease) GZMA 3001 ENSG00000145649 Gzma (MGI:109266) -chr5 55160154 55167296 5q11.2 5q11.2 617172 GPX8 Glutathione peroxidase 8 GPX8 493869 ENSG00000164294 Gpx8 (MGI:1916840) -chr5 55170531 55170621 5q11.2 5q11.2 613131 MIR449A, MIRN449A Micro RNA 449A MIR449A 554213 ENSG00000198983 Mir449a (MGI:3619407) -chr5 55170645 55170741 5q11.2 5q11.2 613132 MIR449B, MIRN449B Micro RNA 449B MIR449B 693123 ENSG00000207728 Mir449b (MGI:3718803) -chr5 55218790 55227314 5q11.2 5q11.2 614086 MCIDAS, IDAS, CILD42 IDAS MCIDAS 345643 ENSG00000234602 Ciliary dyskinesia, primary, 42, 618695 (3), Autosomal recessive Mcidas (MGI:3648807) -chr5 55231151 55233607 5q11.2 5q11.2 607752 CCNO, UNG2, CILD29 Cyclin O CCNO 10309 ENSG00000152669 Ciliary dyskinesia, primary, 29, 615872 (3), Autosomal recessive Ccno (MGI:2145534) -chr5 55256054 55307693 5q11.2 5q11.2 612720 DHX29 DExH-box helicase 29 DHX29 54505 ENSG00000067248 Dhx29 (MGI:2145374) -chr5 55307988 55425578 5q11.2 5q11.2 618122 MTREX, MTR4, SKIV2L2 MTR4 exosome RNA helicase MTREX 23517 ENSG00000039123 Mtrex (MGI:1919448) -chr5 55424849 55535074 5q11.2 5q11.2 607124 PLPP1, PPAP2A Phopshplipid phosphatase 1 PLPP1 8611 ENSG00000067113 Plpp1 (MGI:108412) -chr5 55625844 55712342 5q11.2 5q11.2 616203 SLC38A9, URLC11 Solute carrier family 38, member 9 SLC38A9 153129 ENSG00000177058 Slc38a9 (MGI:1918839) -chr5 55737993 55817156 5q11.2-q12 5q11.2 605281 DDX4, VASA DEAD-box helicase 4 DDX4 54514 ENSG00000152670 Ddx4 (MGI:102670) -chr5 55840333 55922853 5q11.2 5q11.2 609510 IL31RA, GLMR, GPL, PLCA2 Interleukin 31 receptor A IL31RA 133396 ENSG00000164509 mutation identified in 1 PLCA2 patient ?Amyloidosis, primary localized cutaneous, 2, 613955 (3), Autosomal dominant Il31ra (MGI:2180511) -chr5 55935094 55994962 5q11 5q11.2 600694 IL6ST, HIES4 Interleukin-6 signal transducer (gp130, oncostatin M receptor) IL6ST 3572 ENSG00000134352 Hyper-IgE recurrent infection syndrome 4, autosomal recessive, 618523 (3), Autosomal recessive Il6st (MGI:96560) -chr5 56099679 56233329 5q11 5q11.2 615189 ANKRD55 Ankyrin repeat domain-containing protein 55 ANKRD55 79722 ENSG00000164512 Ankrd55 (MGI:1924568) -chr5 56815542 56896151 5q11.2 5q11.2 600982 MAP3K1, MEKK1, MEKK, SRXY6 Mitogen-activated protein kinase kinase kinase 1 MAP3K1 4214 ENSG00000095015 46XY sex reversal 6, 613762 (3), Autosomal dominant Map3k1 (MGI:1346872) -chr5 57174058 57264678 5q11.2 5q11.2 608412 GPBP1, GPBP GC-rich promoter-binding protein 1 GPBP1 65056 ENSG00000062194 Gpbp1 (MGI:1920524) -chr5 57480017 57482810 5q11.2 5q11.2 614835 ACTBL2 Actin, beta-like, 2 ACTBL2 345651 ENSG00000169067 Actbl2 (MGI:2444552) -chr5 58453981 58460085 5q12-q13 5q11.2 607023 PLK2, SNK Polo-like kinase 2 PLK2 10769 ENSG00000145632 Plk2 (MGI:1099790) -chr5 58582151 58859393 5q13 5q11.2 612829 RAB3C Ras-associated protein RAB3C RAB3C 115827 ENSG00000152932 Rab3c (MGI:1914545) -chr5 58969037 60524328 5q12 5q11.2-q12.1 600129 PDE4D, DPDE3, ACRDYS2 Phosphodiesterase-4D, cAMP-specific (dunce, Drosophila, homolog of, phosphodiesterase-E3) PDE4D 5144 ENSG00000113448 Acrodysostosis 2, with or without hormone resistance, 614613 (3), Autosomal dominant Pde4d (MGI:99555) -chr5 60487712 60547656 5q12 5q12.1 604991 PART1 Prostate androgen-regulated transcript 1 PART1 25859 ENSG00000152931 -chr5 60596911 60700165 5q12.1 5q12.1 616073 DEPDC1B DEP domain-containing protein 1B DEPDC1B 55789 ENSG00000035499 Depdc1b (MGI:2145425) -chr5 60751790 60844291 5q12.1 5q12.1 614451 ELOVL7 Elongation of very long chain fatty acids-like 6 ELOVL7 79993 ENSG00000164181 Elovl7 (MGI:1921809) -chr5 60866453 60945069 5q12 5q12.1 609412 ERCC8, CKN1, CSA, UVSS2 Excision repair cross-complementing rodent repair deficiency, complementation group 8 ERCC8 1161 ENSG00000049167 UV-sensitive syndrome 2, 614621 (3), Autosomal recessive; Cockayne syndrome, type A, 216400 (3), Autosomal recessive Ercc8 (MGI:1919241) -chr5 60945204 61153025 5q12.1 5q12.1 609653 NDUFAF2, NDUFA12L, MMTN, B17.2L, MC1DN10 NADH-ubiquinone oxidoreductase complex assembly factor 2 NDUFAF2 91942 ENSG00000164182 pseudogene on chr.2 Mitochondrial complex I deficiency, nuclear type 10, 618233 (3), Autosomal recessive Ndufaf2 (MGI:1922847) -chr5 61332257 61546171 5q12.1 5q12.1 615951 ZSWIM6, KIAA1577, AFND, NEDMAGA Zinc finger SWIM domain-containing protein 6 ZSWIM6 57688 ENSG00000130449 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3), Autosomal dominant; Acromelic frontonasal dysostosis, 603671 (3), Autosomal dominant Zswim6 (MGI:1914513) -chr5 62306166 62391024 5q12.1 5q12.1 602591 KIF2A, CDCBM3 Kinesin, heavy chain, 2 KIF2A 3796 ENSG00000068796 Cortical dysplasia, complex, with other brain malformations 3, 615411 (3), Autosomal dominant Kif2a (MGI:108390) -chr5 62387253 62403904 5q12.1 5q12.1 612499 DIMT1L, DIM1, HUSSY5 DIMT1 rRNA methyltransferase and ribosome maturation factor DIMT1 27292 ENSG00000086189 previously assigned to 8p12 Dimt1 (MGI:1913504) -chr5 62412762 62628581 5q12.1 5q12.1 610889 IPO11, RANBP11, SLRN Importin 11 IPO11 51194 ENSG00000086200 Ipo11 (MGI:2442377) -chr5 63900000 67400000 5q12 615668 DEL5q12, C5DELq12 Chromosome 5q12 deletion syndrome Chromosome 5q12 deletion syndrome, 615668 (4), Autosomal dominant -chr5 63900000 93000000 5q12-q14 611364 EJM4 Myoclonic epilepsy, juvenile, 4 100126594 max lod at D5S459 Myoclonic epilepsy, juvenile, 4, 611364 (2), Autosomal dominant -chr5 63900000 67400000 5q12 606799 STRK1 Stroke, susceptibility to, 1 association with PDE4D {Stroke, susceptibility to, 1}, 606799 (2) -chr5 63957873 63962444 5q11.2-q13 5q12.3 109760 HTR1A, ADRB2RL1, PFMCD 5-hydroxytryptamine (serotonin) receptor-1A HTR1A 3350 ENSG00000178394 Periodic fever, menstrual cycle dependent, 614674 (3), Autosomal dominant Htr1a (MGI:96273) -chr5 64165310 64372878 5q12.3 5q12.3 616015 RNF180, RINES RING finger protein 180 RNF180 285671 ENSG00000164197 Rnf180 (MGI:1919066) -chr5 64505946 64612329 5q12.3 5q12.3 610890 RGS7BP, R7BP Regulator of G protein signaling 7-binding protein RGS7BP 401190 ENSG00000186479 Rgs7bp (MGI:106334) -chr5 64768917 65018762 5q12.3 5q12.3 617170 CWC27, SDCCAG10, RPSKA CWC27 spliceosome-associated cyclophilin CWC27 10283 ENSG00000153015 Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive Cwc27 (MGI:1914535) -chr5 65148735 65482662 5q12 5q12.3 605008 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 ADAMTS6 11174 ENSG00000049192 Adamts6 (MGI:1347348) -chr5 65488918 65563193 5p15.2-q12.3 5q12.3 611502 CEMPK, SOLT Centromeric protein K CENPK 64105 ENSG00000123219 Cenpk (MGI:1926210) -chr5 65563294 65587548 5q12.3 5q12.3 618274 PPWD1 Peptidylprolyl isomerase domain- and WD40 repeat-containing protein 1 PPWD1 23398 ENSG00000113593 Ppwd1 (MGI:2443069) -chr5 65589689 65624332 5q12.3 5q12.3 601747 TRIM23, ARD1 Tripartite motif-containing protein 23 TRIM23 373 ENSG00000113595 Trim23 (MGI:1933161) -chr5 65625026 65630927 5q12.3 5q12.3 618030 SHLD3, RINN1 Shield complex, subunit 3 SHLD3 112441434 ENSG00000253251 -chr5 65722204 65829282 5q12.3 5q12.3 611530 NLN, KIAA1226, AGTBP Neurolysin NLN 57486 ENSG00000123213 Nln (MGI:1923055) -chr5 65926574 66082545 5q12 5q12.3 606944 ERBB2IP, ERBIN ERBB2 interacting protein ERBIN 55914 ENSG00000112851 Erbin (MGI:1890169) -chr5 66144299 66183614 5q11.2-q12.1 5q12.3 609268 SREK1, SFRS12, SRRp508 Splicing regulatory glutamine/lysine-rich protein 1 SREK1 140890 ENSG00000153914 Srek1 (MGI:2145245) -chr5 66596353 67169594 5q13 5q12.3 618002 MAST4 Microtubule-associated serine-threonine kinase 4 MAST4 375449 ENSG00000069020 Mast4 (MGI:1918885) -chr5 67179612 67196798 5q12 5q12.3 602226 CD180, LY64, RP105 CD180 antigen CD180 4064 ENSG00000134061 Cd180 (MGI:1194924) -chr5 68215736 68301820 5q13 5q13.1 171833 PIK3R1, GRB1, AGM7, SHORT, IMD36 Phosphatidylinositol 3-kinase, regulatory, 1 PIK3R1 5295 ENSG00000145675 mutation identified in 1 AGM7 family Immunodeficiency 36, 616005 (3), Autosomal dominant; ?Agammaglobulinemia 7, autosomal recessive, 615214 (3), Autosomal recessive; SHORT syndrome, 269880 (3), Autosomal dominant Pik3r1 (MGI:97583) -chr5 69093992 69131068 5q11.2 5q13.1-q13.2 607819 SLC30A5, ZNT5, ZTL1 Solute carrier family 30 (zinc transporter), member 5 SLC30A5 64924 ENSG00000145740 Slc30a5 (MGI:1916298) -chr5 69167149 69178244 5q12 5q13.2 123836 CCNB1 Cyclin B1 CCNB1 891 ENSG00000134057 Ccnb1 (MGI:88302) -chr5 69189582 69210356 5q13.2 5q13.2 605607 CENPH Centromeric protein H CENPH 64946 ENSG00000153044 Cenph (MGI:1349448) -chr5 69217759 69230157 5q12.1 5q13.2 611996 MRPS36 Mitochondrial ribosomal protein S36 MRPS36 92259 ENSG00000134056 6 pseudogenes Mrps36 (MGI:1913378) -chr5 69234794 69277429 5q13.2 5q13.2 601955 CDK7, STK1, CAK1 Cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase) CDK7 1022 ENSG00000134058 previously mapped to 2p15-cen Cdk7 (MGI:102956) -chr5 69273086 69333069 5q13.2 5q13.2 613781 CCDC125, KENAE Coiled-coil domain-containing protein 125 CCDC125 202243 ENSG00000183323 Ccdc125 (MGI:1923291) -chr5 69350983 69369823 5q13.2 5q13.2 619357 AK6, CINAP Adenylate kinase 6 AK6 102157402 ENSG00000085231 Ak6 (MGI:5510732) -chr5 69364742 69369823 5q11.2-q13.1 5q13.2 600822 TAF9, TAF2G, TAFII32 TATA box-binding protein-associated factor 9 TAF9 6880 ENSG00000273841 Taf9 (MGI:1888697) -chr5 69369292 69414800 5q13 5q13.2 603139 RAD17 RAD17 checkpoint clamp loader component RAD17 5884 ENSG00000152942 Rad17 (MGI:1333807) -chr5 69415115 69444329 5q13.1 5q13.2 610572 MARVELD2, MARVD2, TRIC, DFNB49 Marvel domain-containing protein 2 (tricellulin) MARVELD2 153562 ENSG00000152939 Deafness, autosomal recessive 49, 610153 (3), Autosomal recessive Marveld2 (MGI:2446166) -chr5 69492546 69558103 5q13.1 5q13.2 602876 OCLN, BLCPMG, PTORCH1 Occludin OCLN 100506658 ENSG00000197822 Pseudo-TORCH syndrome 1, 251290 (3), Autosomal recessive Ocln (MGI:106183) -chr5 70049522 70077594 5q12.2-q13.3 5q13.2 601627 SMN2 Survival of motor neuron 2, centromeric SMN2 6607 ENSG00000205571 {Spinal muscular atrophy, type III, modifier of}, 253400 (3), Autosomal recessive Smn1 (MGI:109257) -chr5 70900668 70918529 5q12.2-q13.3 5q13.2 603011 SERF1A, H4F5, SMAM1 Small EDRK-rich factor 1A SERF1A 8293 ENSG00000172058 Serf1 (MGI:1337114) -chr5 70924940 70953014 5q12.2-q13.3 5q13.2 600354 SMN1, SMA1, SMA2, SMA3, SMA4 Survival of motor neuron 1, telomeric SMN1 6606 ENSG00000172062 Spinal muscular atrophy-2, 253550 (3), Autosomal recessive; Spinal muscular atrophy-4, 271150 (3), Autosomal recessive; Spinal muscular atrophy-3, 253400 (3), Autosomal recessive; Spinal muscular atrophy-1, 253300 (3), Autosomal recessive Smn1 (MGI:109257) -chr5 70968165 71025338 5q12.2-q13.3 5q13.2 600355 BIRC1, NAIP Baculoviral IAP repeat-containing 1 (neuronal apoptosis inhibitory protein) NAIP 4671 ENSG00000249437 ?involved in SMA Naip2,Naip5,Naip6,Naip7,Naip1 (MGI:1298220,MGI:1298222,MGI:1298223,MGI:1298226,MGI:1858256) -chr5 71035123 71109112 5q12.2-q13.3 5q13.2 601748 GTF2H2 General transcription factor IIH, polypeptide 2 (44kD subunit) GTF2H2 2966 ENSG00000145736 2 copies Gtf2h2 (MGI:1345669) -chr5 71375784 71385992 5q12-q13 5q13.2 176794 PMCHL2 Pro-melanin-concentrating hormone-like 2 PMCHL2 5370 ENSG00000169040 -chr5 71455635 71578287 5q13 5q13.2 607012 BDP1, TFNR, DFNB112 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB BDP1 55814 ENSG00000145734 mutation identified in 1 DFNB112 family ?Deafness, autosomal recessive 112, 618257 (3), Autosomal recessive Bdp1 (MGI:1347077) -chr5 71587339 71658705 5q12-q13 5q13.2 609014 MCCC2, MCCB 3-Methylcrotonyl-CoA carboxylase 2 MCCC2 64087 ENSG00000131844 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3), Autosomal recessive Mccc2 (MGI:1925288) -chr5 71719274 71721044 5q13.2 5q13.2 602606 CARTPT, CART Cocaine- and amphetamine-regulated transcript prepropeptide CARTPT 9607 ENSG00000164326 mutation identified in 1 family {?Obesity, susceptibility to}, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive Cartpt (MGI:1351330) -chr5 72107474 72209564 5q13 5q13.2 157129 MAP1B, PVNH9 Microtubule-associated protein-1B MAP1B 4131 ENSG00000131711 Periventricular nodular heterotopia 9, 618918 (3), Autosomal dominant Map1b (MGI:1306778) -chr5 72219402 72320239 5q13.2 5q13.2 611989 MRPS27, KIAA0264 Mitochondrial ribosomal protein S27 MRPS27 23107 ENSG00000113048 Mrps27 (MGI:1919064) -chr5 72320372 72368394 5q13.2 5q13.2 615484 PTCD2 Pentatricopeptide repeat domain-containing protein 2 PTCD2 79810 ENSG00000049883 Ptcd2 (MGI:1916177) -chr5 72439902 72507409 5q13.2 5q13.2 610159 ZNF366, DCSCRIPT Zinc finger protein 366 ZNF366 167465 ENSG00000178175 Zfp366 (MGI:2178429) -chr5 72816649 72914387 5q13.2 5q13.2 602901 TNPO1, KPNB2, MIP1 Transportin 1 TNPO1 3842 ENSG00000083312 Tnpo1 (MGI:2681523) -chr5 72956040 73090521 5q13.2 5q13.2 613438 FCHO2 FCH domain-only protein 2 FCHO2 115548 ENSG00000157107 Fcho2 (MGI:3505790) -chr5 73173192 73175142 5q13.2 5q13.2 614909 TMEM174 Transmembrane protein 174 TMEM174 134288 ENSG00000164325 Tmem174 (MGI:1915594) -chr5 73446265 73448776 5q12-q13 5q13.2 601091 FOXD1, FKHL8 Forkhead box D1 FOXD1 2297 ENSG00000251493 Foxd1 (MGI:1347463) -chr5 73498441 73505666 5q13.2 5q13.2 602542 BTF3, NACB Basic transcription factor 3 BTF3 689 ENSG00000145741 Btf3 (MGI:1202875) -chr5 73552189 73565638 5q12-q13 5q13.2 605787 ANKRA2, ANKRA Ankyrin repeat-containing protein, family A, member 2 ANKRA2 57763 ENSG00000164331 Ankra2 (MGI:1915808) -chr5 73565740 73583379 5q13.2 5q13.2 616194 UTP15 UTP15 small subunit processome component of UTP15 84135 ENSG00000164338 Utp15 (MGI:2145443) -chr5 73626178 73941992 5q13.2 5q13.2 612790 RGNEF, p190RHOGEF Rgnef, mouse, homolog of ARHGEF28 64283 ENSG00000214944 Arhgef28 (MGI:1346016) -chr5 74000000 93000000 5q13-q14 607087 AAT2, FAA2 Aortic aneurysm, familial thoracic 2 252843 Aortic aneurysm, familial thoracic 2, 607087 (2) -chr5 74000000 115900000 5q13-q22 605544 GINGF2, GGF2, HGF2 Fibromatosis, gingival, 2 64644 formerly GINGF2 used for a locus on 2p16-p13 Fibromatosis, gingival, 2, 605544 (2) -chr5 74000000 77600000 5q13.3 618214 LINC01157 Long intergenic noncoding RNA 1157 LINC01157 105379037 Lncenc1 (MGI:3780541) -chr5 74000000 77600000 5q13 612306 TSHQTL1 Thyroid-stimulating hormone level QTL 1 100190789 associated with rs4704397 [Thyroid-stimulating hormone level QTL 1], 612306 (2) -chr5 74627408 74640727 5q13 5q13.3 605173 ENC1, PIG10 Ectodermal-neural cortex 1 ENC1 8507 ENSG00000171617 Enc1 (MGI:109610) -chr5 74640022 74721287 5q13 5q13.3 606873 HEXB Hexosaminidase B, beta polypeptide HEXB 3074 ENSG00000049860 Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3), Autosomal recessive Hexb (MGI:96074) -chr5 74721205 74767146 5q13 5q13.3 606544 GFM2, EFG2, RRF Mitochondrial elongation factor G2 GFM2 84340 ENSG00000164347 Combined oxidative phosphorylation deficiency 39, 618397 (3), Autosomal recessive Gfm2 (MGI:2444783) -chr5 74767248 74780112 5q13.3 5q13.3 612497 TINP1, NSA2, HUSSY29 Transforming growth factor-beta-inducible nuclear protein 1 NSA2 10412 ENSG00000164346 Nsa2-ps1,Nsa2 (MGI:3648670,MGI:1913883) -chr5 74777573 74867993 5q13.3 5q13.3 615769 FAM169A, SLAP75, KIAA0888 Family with sequence similarity 169, member A FAM169A 26049 ENSG00000198780 Fam169a (MGI:2444268) -chr5 75025345 75052557 5q12 5q13.3 616782 GCNT4 Glucosaminyl (N-acetyl) transferase 4, core 2 GCNT4 51301 ENSG00000176928 Gcnt4 (MGI:2684919) -chr5 75068296 75236921 5q13.3 5q13.3 618423 ANKRD31 Ankyrin repeat domain-containing protein 31 ANKRD31 256006 ENSG00000145700 Ankrd31 (MGI:5006716) -chr5 75336333 75362115 5q13.3-q14 5q13.3 142910 HMGCR, LDLCQ3 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; HMG CoA reductase HMGCR 3156 ENSG00000113161 [Statins, attenuated cholesterol lowering by] (3); [Low density lipoprotein cholesterol level QTL 3] (3) Hmgcr (MGI:96159) -chr5 75368485 75511980 5q13.3 5q13.3 604677 COL4A3BP, GPBP, CERT, MRD34 COL4A3-binding protein (ceramide transporter) CERT1 10087 ENSG00000113163 Mental retardation, autosomal dominant 34, 616351 (3), Autosomal dominant Cert1 (MGI:1915268) -chr5 75511890 75601143 5q13.1 5q13.3 605650 POLK, POLQ, DINB1 Polymerase, DNA, kappa POLK 51426 ENSG00000122008 Polk (MGI:1349767) -chr5 75674123 75717487 5q13.3 5q13.3 617880 POC5, C5orf37 POC5 centriolar protein POC5 134359 ENSG00000152359 Poc5 (MGI:1914713) -chr5 75847462 76353938 5q13.3 5q13.3 610291 SV2C Synaptic vesicle glycoprotein 2C SV2C 22987 ENSG00000122012 Sv2c (MGI:1922459) -chr5 76403284 76708131 5q11-q13 5q13.3 605401 IQGAP2 IQ motif-containing GTPase-activating protein-2 IQGAP2 10788 ENSG00000145703 Iqgap2 (MGI:2449975) -chr5 76615481 76623402 5q13 5q13.3 601919 F2RL2, PAR3 Coagulation factor II receptor-like 2 (protease-activated receptor 3) F2RL2 2151 ENSG00000164220 order: PAR2-PAR1-PAR3 F2rl2 (MGI:1298208) -chr5 76716125 76735769 5q13 5q13.3 187930 F2R, CF2R, PAR1 Coagulation factor II (thrombin) receptor F2R 2149 ENSG00000181104 within 900kb of GPR11 F2r (MGI:101802) -chr5 76819029 76835314 5q13 5q13.3 600933 F2RL1, GPR11, PAR2 Coagulation factor II, thrombin, receptor-like 1 (G protein-coupled receptor-11) F2RL1 2150 ENSG00000164251 within 900kb of F2R F2rl1 (MGI:101910) -chr5 76849952 76952881 5q13.3 5q13.3 610103 S100Z S100 calcium-binding protein, zeta S100Z 170591 ENSG00000171643 S100z (MGI:2685471) -chr5 76952854 76981142 5q11.2-q13.3 5q13.3 122559 CRHBP Corticotropin releasing hormone-binding protein CRHBP 1393 ENSG00000145708 Crhbp (MGI:88497) -chr5 77030403 77065233 5q13.3 5q13.3 608464 AGGF1, VG5Q, HUS84971, FLJ10283 Angiogenic factor with G patch and FHA domains 1 AGGF1 55109 ENSG00000164252 Aggf1 (MGI:1913799) -chr5 77072071 77087284 5q13.3 5q13.3 615250 ZBED3 Zinc finger BED domain-containing protein 3 ZBED3 84327 ENSG00000132846 Zbed3 (MGI:1919364) -chr5 77180303 77428255 5q13 5q13.3 603390 PDE8B, PPNAD3, ADSD Phosphodiesterase 8B PDE8B 8622 ENSG00000113231 Pigmented nodular adrenocortical disease, primary, 3, 614190 (3); Striatal degeneration, autosomal dominant, 609161 (3), Autosomal dominant Pde8b (MGI:2443999) -chr5 77426651 77620610 5q13.3 5q13.3-q14.1 617502 WDR41 WD repeat-containing protein 41 WDR41 55255 ENSG00000164253 Wdr41 (MGI:2445123) -chr5 77600000 110200000 5q14.1-q21.3 614622 KTCN5 Keratoconus 5 100885801 between D5S2499 and D5S495 Keratoconus 5, 614622 (2), Autosomal dominant -chr5 77628711 77638712 5q13.3 5q14.1 604529 OTP Orthopedia homeobox OTP 23440 ENSG00000171540 Otp (MGI:99835) -chr5 77691165 77776338 5q14.1 5q14.1 610058 TBCA Tubulin-specific chaperone A TBCA 6902 ENSG00000171530 Tbca (MGI:107549) -chr5 78000521 78294703 5q14.1 5q14.1 603401 AP3B1, ADTB3A, HPS2 Adaptor-related protein complex 3, beta 1 subunit (adaptin, beta-3a) AP3B1 8546 ENSG00000132842 Hermansky-Pudlak syndrome 2, 608233 (3), Autosomal recessive Ap3b1 (MGI:1333879) -chr5 78360529 78480738 5q13.3-q14.1 5q14.1 606911 SCAMP1, SCAMP37 Secretory carrier membrane protein 1 SCAMP1 9522 ENSG00000085365 Scamp1 (MGI:1349480) -chr5 78485223 78770255 5q14.1 5q14.1 609718 LHFPL2, KIAA0206 LHFP tetraspan subfamily, member 2 LHFPL2 10184 ENSG00000145685 Lhfpl2 (MGI:2145236) -chr5 78777208 78986086 5q11-q13 5q14.1 611542 ARSB, MPS6 Arylsulfatase B ARSB 411 ENSG00000113273 Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3), Autosomal recessive Arsb (MGI:88075) -chr5 78997563 79069673 5q12.2-q12.3 5q14.1 605849 DMGDH, DMGDHD Dimethylglycine dehydrogenase DMGDH 29958 ENSG00000132837 Dimethylglycine dehydrogenase deficiency, 605850 (3), Autosomal recessive Dmgdh (MGI:1921379) -chr5 79069766 79090068 5q13.1-q13.2 5q14.1 605932 BHMT2 Betaine-homocysteine methyltransferase 2 BHMT2 23743 ENSG00000132840 Bhmt2 (MGI:1891379) -chr5 79111808 79132287 5q13.1-q13.2 5q14.1 602888 BHMT Betaine-homocysteine methyltransferase BHMT 635 ENSG00000145692 Bhmt (MGI:1339972) -chr5 79236130 79327214 5q13.2 5q14.1 604279 JMY Junction-mediating and regulatory protein JMY 133746 ENSG00000152409 Jmy (MGI:1913096) -chr5 79372635 79514133 5q14.2 5q14.1 604798 HOMER1, HOMER1B, HOMER1C, HOMER1A Homer scaffold protein 1 HOMER1 9456 ENSG00000152413 Homer1 (MGI:1347345) -chr5 79612420 79688245 5q14.1 5q14.1 614121 TENT2, APD4, GLD2 Terminal nucleotidyltransferase 1 TENT2 167153 ENSG00000164329 Tent2 (MGI:2140950) -chr5 79689338 79800225 5q12-q13 5q14.1 612193 CMYA5, MYOSPRYN, TRIM76 Cardiomyopathy-associated protein 5 CMYA5 202333 ENSG00000164309 Cmya5 (MGI:1923719) -chr5 79976715 79991261 5q14.1 5q14.1 619336 MTX3 Metaxin 3 MTX3 345778 ENSG00000177034 Mtx3 (MGI:2686040) -chr5 79991331 80083752 5q14.1 5q14.1 600715 THBS4 Thrombospondin IV THBS4 7060 ENSG00000113296 Thbs4 (MGI:1101779) -chr5 80111224 80256047 5q14.1 5q14.1 614551 SERINC5, C5orf12, TPO1 Serine incorporator 5 SERINC5 256987 ENSG00000164300 Serinc5 (MGI:2444223) -chr5 80320001 80321841 5q14.1 5q14.1 618068 SPZ1, PPP1R148 Spermatogenic leucine zipper protein 1 SPZ1 84654 ENSG00000164299 Spz1 (MGI:1930801) -chr5 80407614 80483378 5q14.1 5q14.1 608880 ZFYVE16, ENDOFIN, KIAA0305 Zinc finger FYVE domain-containing protein 16 ZFYVE16 9765 ENSG00000039319 Zfyve16 (MGI:2145181) -chr5 80556754 80570291 5q14.1 5q14.1 618581 ANKRD34B, DP58 Ankyrin repeat domain-containing protein 34B ANKRD34B 340120 ENSG00000189127 Ankrd34b (MGI:2443245) -chr5 80626225 80654982 5q11.2-q13.2 5q14.1 126060 DHFR Dihydrofolate reductase DHFR 1719 ENSG00000228716 Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3), Autosomal recessive Dhfr (MGI:94890) -chr5 80654651 80876814 5q11-q12 5q14.1 600887 MSH3, FAP4 mutS homolog 3 MSH3 4437 ENSG00000113318 5' to DHFR Familial adenomatous polyposis 4, 617100 (3), Autosomal recessive; Endometrial carcinoma, somatic, 608089 (3) Msh3 (MGI:109519) -chr5 80960362 81230161 5q13 5q14.1 606614 RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 RASGRF2 5924 ENSG00000113319 Rasgrf2 (MGI:109137) -chr5 81233321 81266397 5q13.3 5q14.1 123295 CKMT2 Creatine kinase, mitochondrial-2 (sarcomeric) CKMT2 1160 ENSG00000131730 Ckmt2 (MGI:1923972) -chr5 81309044 81394173 5q14.1 5q14.1 614315 ACOT12, CACH Acyl-CoA thioesterase 12 ACOT12 134526 ENSG00000172497 Acot12 (MGI:1921406) -chr5 81412803 81751096 5q13.3 5q14.1 607389 SSBP2 Single-stranded DNA-binding protein 2 SSBP2 23635 ENSG00000145687 Ssbp2 (MGI:1914220) -chr5 81972020 82258501 5q14.2 5q14.1-q14.2 610800 ATG10, APG10 Autophagy related 10 ATG10 83734 ENSG00000152348 Atg10 (MGI:1914045) -chr5 82100000 83500000 5q14.2 614317 VUR4 Vesicoureteral reflux 4 100820757 closest marker rs1501656 Vesicoureteral reflux 4, 614317 (2) -chr5 82273319 82278353 5q14.2 5q14.2 603683 RPS23, BTDD, MCINS Ribosomal protein S23 RPS23 6228 ENSG00000186468 Brachycephaly, trichomegaly, and developmental delay, 617412 (3), Autosomal dominant Rps23-ps1,Rps23 (MGI:3705429,MGI:1913725) -chr5 83064203 83064336 5q14.2 5q14.2 611329 SCARNA18 Small cajal body-specific RNA 18 SCARNA18 677765 ENSG00000238835 in intron 1 of TMEM167 -chr5 83077533 83370332 5q13-q14 5q14.2 194363 XRCC4, SSMED X-ray repair cross complementing 4 XRCC4 7518 ENSG00000152422 between D5S427 and D5S401 Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive Xrcc4 (MGI:1333799) -chr5 83471743 83582301 5q12-q14 5q14.2-q14.3 118661 VCAN, CSPG2, WGN, WGN1, ERVR Versican (chondroitin sulfate proteoglycan-2) VCAN 1462 ENSG00000038427 Wagner syndrome 1, 143200 (3), Autosomal dominant Vcan (MGI:102889) -chr5 83500000 93000000 5q14 187260 HBT Telangiectasia, hereditary benign 338411 max lod at D5S641 Telangiectasia, hereditary benign, 187260 (2), Autosomal dominant -chr5 83500000 98900000 5q14.3-q15 612881 PVNH5 Periventricular nodular heterotopia 5 deletion range 6.3-17Mb, common range 5.8Mb Periventricular nodular heterotopia 5, 612881 (4) -chr5 83637804 83721209 5q13-q14.1 5q14.3 115435 HAPLN1, CRTL1 Hyaluronan and proteoglycan link protein 1 HAPLN1 1404 ENSG00000145681 Hapln1 (MGI:1337006) -chr5 83940553 84384879 5q14.3 5q14.3 606018 EDIL3, DEL1 Egf-like repeats- and discoidin I-like domains-containing protein 3 EDIL3 10085 ENSG00000164176 Edil3 (MGI:1329025) -chr5 86617940 86620961 5q14 5q14.3 603774 COX7C Cytochrome C oxidase, subunit VII C COX7C 1350 ENSG00000127184 pseudogene on 13q14-q21 Cox7c (MGI:103226) -chr5 87267844 87391915 5q13.3 5q14.3 139150 RASA1, GAP, CMAVM1, PKWS RAS p21 protein activator 1 (GTPase activating protein) RASA1 5921 ENSG00000145715 Capillary malformation-arteriovenous malformation 1, 608354 (3), Autosomal dominant; Basal cell carcinoma, somatic, 605462 (3) Rasa1 (MGI:97860) -chr5 87311470 87412970 5q13.3-q14 5q14.3 601953 CCNH, CAK Cyclin H CCNH 902 ENSG00000134480 Ccnh (MGI:1913921) -chr5 88538265 88691040 5q14.3 5q14.3 616611 LINC00461, VISC Long intergenic noncoding RNA 461 LINC00461 645323 ENSG00000245526 C130071C03Rik (MGI:2443574) -chr5 88666852 88666938 5q14.3 5q14.3 611187 MIR9-2, MIRN9-2 Micro RNA 9-2 MIR9-2 407047 ENSG00000284447 Mir9-2 (MGI:3619442) -chr5 88717116 88904104 5q14 5q14.3 600662 MEF2C, C5DELq14.3, DEL5q14.3 MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C) MEF2C 4208 ENSG00000081189 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3), Autosomal dominant; Chromosome 5q14.3 deletion syndrome, 613443 (4), Autosomal dominant Mef2c (MGI:99458) -chr5 90392256 90409755 5q14.3 5q14.3 602907 CETN3, CDC31 Centrin 3 CETN3 1070 ENSG00000153140 Cetn3 (MGI:1097706) -chr5 90473928 90514556 5p14.3 5q14.3 617456 POLR3G, RPC32, RPC7 Polymerase III, RNA, subunit G POLR3G 10622 ENSG00000113356 Polr3g (MGI:1914736) -chr5 90558795 91164436 5q14.3 5q14.3 602851 ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C Adhesion G protein-coupled receptor V1 ADGRV1 84059 ENSG00000164199 mutation identified in 1 FEB4 family Usher syndrome, type 2C, 605472 (3), Digenic dominant, Autosomal recessive; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3), Digenic dominant, Autosomal recessive; ?Febrile seizures, familial, 4, 604352 (3), Autosomal dominant Adgrv1 (MGI:1274784) -chr5 91302985 91314401 5q14.3 5q14.3 618190 LUCAT1, SCAL1 Lung cancer-associated transcript 1, noncoding LUCAT1 100505994 ENSG00000248323 -chr5 91368630 91383331 5q14.3 5q14.3 612464 ARRDC3, TLIMP, KIAA1376 Arrestin domain-containing 3 ARRDC3 57561 ENSG00000113369 Arrdc3 (MGI:2145242) -chr5 93583221 93594612 5q14 5q15 132890 NR2F1, TFCOUP1, ERBAL3, EAR3, BBSOAS Nuclear receptor subfamily 2, group F, member 1 (transcription factor COUP 1) NR2F1 7025 ENSG00000175745 Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3), Autosomal dominant Nr2f1 (MGI:1352451) -chr5 94150850 94618603 5q15 5q15 617266 KIAA0825, PAPA10 KIAA0825 gene KIAA0825 285600 ENSG00000185261 Polydactyly, postaxial, type A10, 618498 (3), Autosomal recessive 2210408I21Rik (MGI:1919621) -chr5 94613475 94714917 5q15 5q15 618467 SLF1, BRCTX SMC5-SMC6 complex localization factor 1 SLF1 84250 ENSG00000133302 Slf1 (MGI:2145448) -chr5 94703689 95285093 5q15 5q15 616296 MCTP1 Multiple C2 domains-containing transmembrane protein 1 MCTP1 79772 ENSG00000175471 Mctp1 (MGI:1926021) -chr5 95463893 95554979 5q15 5q15 614589 TTC37, KIAA0372 Tetratricopeptide repeat domain 37 TTC37 9652 ENSG00000198677 Trichohepatoenteric syndrome 1, 222470 (3), Autosomal recessive Ttc37 (MGI:2679923) -chr5 95555100 95605101 5q15 5q15 610011 ARSK Arylsulfatase K ARSK 153642 ENSG00000164291 Arsk (MGI:1924291) -chr5 95713521 95796360 5q14.3 5q15 607353 RHOBTB3, KIAA0878 Rho-related BTB domain-containing protein 3 RHOBTB3 22836 ENSG00000164292 Rhobtb3 (MGI:1920546) -chr5 95813848 95822725 5q14 5q15 600443 GLRX, GRX Glutaredoxin (thioltransferase) GLRX 2745 ENSG00000173221 Glrx (MGI:2135625) -chr5 95885097 95961961 5q15 5q15 601874 ELL2 Elongation factor, RNA polymerase II, 2 ELL2 22936 ENSG00000118985 Ell2 (MGI:2183438) -chr5 96390332 96433247 5q15-q21 5q15 162150 PCSK1, NEC1, PC1, PC3, BMIQ12 Proprotein convertase subtilisin/kexin type 1 PCSK1 5122 ENSG00000175426 Obesity with impaired prohormone processing, 600955 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ12}, 612362 (3) Pcsk1 (MGI:97511) -chr5 96662036 96774682 5q15-q21 5q15 114090 CAST, PLACK Calpastatin CAST 831 ENSG00000153113 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3), Autosomal recessive Cast (MGI:1098236) -chr5 96760272 96935982 5q15 5q15 606832 ERAP1, ALAP, ARTS1, PILSAP, KIAA0525 Endoplasmic reticulum aminopeptidase 1 ERAP1 51752 ENSG00000164307 Erap1 (MGI:1933403) -chr5 96875938 96919715 5q15 5q15 609497 ERAP2, LRAP Endoplasmic reticulum aminopeptidase 2 ERAP2 64167 ENSG00000164308 -chr5 96934858 97037512 5q14.2-q15 5q15 151300 LNPEP Leucyl-cystinyl aminopeptidase LNPEP 4012 ENSG00000113441 Lnpep (MGI:2387123) -chr5 97091866 97142610 5q15 5q15 610466 LIX1 Limb and CNS expressed 1 LIX1 167410 ENSG00000145721 Lix1 (MGI:1913893) -chr5 97160866 97183246 5q15 5q15 617754 RIOK2, RIO2 RIO kianse 2 RIOK2 55781 ENSG00000058729 Riok2 (MGI:1914295) -chr5 98768631 98796493 5q21.1 5q15 612687 RGMB, DRAGON RGM domain family, member B RGMB 285704 ENSG00000174136 Rgmb (MGI:1916049) -chr5 98853984 98929771 5q15-q21 5q-q 602118 CHD1, PILBOS Chromodomain helicase DNA binding protein-1 CHD1 1105 ENSG00000153922 Pilarowski-Bjornsson syndrome, 617682 (3), Autosomal dominant Chd1 (MGI:88393) -chr5 100806932 100903281 5q21 5q21.1 602547 PST, PST1 Polysialyltransferase ST8SIA4 7903 ENSG00000113532 St8sia4 (MGI:106018) -chr5 102233985 102296515 5q21.1 5q21.1 609013 SLCO4C1, OATP4C1 Solute carrier organic anion transporter family, member 4C1 SLCO4C1 353189 ENSG00000173930 Slco4c1 (MGI:2442784) -chr5 102371773 102502212 5q21.1 5q21.1 613365 SLCO6A1, GST Solute carrier organic anion transporter family, member 6A1 SLCO6A1 133482 ENSG00000205359 Slco6d1,Slco6c1 (MGI:1921691,MGI:1918116) -chr5 102754782 103031104 5q14-q21 5q21.1 170270 PAM Peptidylglycine alpha-amidating monooxygenase PAM 5066 ENSG00000145730 Pam (MGI:97475) -chr5 103120272 103212798 5q21.1 5q21.1 611648 PPIP5K2, HISPPD1, VIP2, KIAA0433, DFNB100 Histidine acid phosphatase domain-containing protein 1 PPIP5K2 23262 ENSG00000145725 Deafness, autosomal recessive 100, 618422 (3), Autosomal recessive Ppip5k2 (MGI:2142810) -chr5 103258373 103278659 5q21.1 5q21.1 616608 MACIR, C5orf30 Macrophage immunometabolism regulator MACIR 90355 ENSG00000181751 Macir (MGI:1277184) -chr5 103548854 103562804 5q21.2 5q21.2 609232 NUDT12 Nudix hydrolase 12 NUDT12 83594 ENSG00000112874 Nudt12 (MGI:1915243) -chr5 105100000 156300000 5q21.3-q33.2 608970 MDBS2 Macular dystrophy, butterfly-shaped pigmentary, 2 between D5S433 and D5S410 Macular dystrophy, butterfly-shaped pigmentary, 2, 608970 (2), Autosomal dominant -chr5 105100000 110200000 5q21 609570 MGR8 Migraine, susceptibility to, 8 100188790 {Migraine, susceptibility to, 8}, 609570 (2) -chr5 107376888 107670936 5q21.3 5q21.3 601535 EFNA5, EPLG7, LERK7 Ephrin A5 EFNA5 1946 ENSG00000184349 Efna5 (MGI:107444) -chr5 107859034 108382097 5q21.3 5q21.3 609083 FBXL17, FBL17, FBX13, FBXO13 F-box and leucine-rich repeat protein 17 FBXL17 64839 ENSG00000145743 Fbxl17 (MGI:1354704) -chr5 108593483 108594002 5q13-q23 5q21.3 180463 RPS20A Ribosomal protein S20A RPS20P3 6225 ?pseudogene -chr5 108746084 109196840 5q21-q22 5q21.3 176942 FER, TYK3 fer (fps/fes related) tyrosine kinase FER 2241 ENSG00000151422 Fer (MGI:105917) -chr5 109334708 109409977 5q21.3 5q21.3 619341 PJA2, NEURODAP1 Praja RING finger ubiquitin ligase 2 PJA2 9867 ENSG00000198961 Pja2 (MGI:2159342) -chr5 109689416 109869624 5q21-q22 5q21.3 154582 MAN2A1, MANA2 Mannosidase, alpha, class 2A, member 1 MAN2A1 4124 ENSG00000112893 Man2a1 (MGI:104669) -chr5 110200000 150400000 5q22.1-q32 610535 GLC1M Glaucoma 1, open angle, M 777643 between D5S2051 and D5S2090 Glaucoma 1, open angle, M, 610535 (2), Autosomal dominant -chr5 110738144 110765156 5q22.1 5q22.1 610826 SLC25A46, HMSN6B, PCH1E Solute carrier family 25, member 46 SLC25A46 91137 ENSG00000164209 Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive; Pontocerebellar hypoplasia, type 1E, 619303 (3), Autosomal recessive Slc25a46 (MGI:1914703) -chr5 111070061 111078025 5q22.1 5q22.1 607003 TSLP Thymic stromal lymphopoietin TSLP 85480 ENSG00000145777 Tslp (MGI:1855696) -chr5 111092347 111130501 5q21.3-q22.1 5q22.1 609669 WDR36, TAWDRP, GLC1G WD repeat-containing protein 36 WDR36 134430 ENSG00000134987 Glaucoma 1, open angle, G, 609887 (3) Wdr36 (MGI:1917819) -chr5 111223582 111498502 5q21-q23 5q22.1 114080 CAMK4 Ca(2+)-calmodulin-dependent protein kinase type IV of brain CAMK4 814 ENSG00000152495 Camk4 (MGI:88258) -chr5 111491421 111512566 5q22 5q22.1 607049 STARD4 Start domain-containing protein 4 STARD4 134429 ENSG00000164211 Stard4 (MGI:2156764) -chr5 111728801 111976931 5q22.1 5q22.1 607332 NREP, C5orf13, P311, PTZ17 Neuronal regeneration-related protein NREP 9315 ENSG00000134986 Nrep (MGI:99444) -chr5 112141828 112419276 5q22 5q22.1-q22.2 612141 EPB41L4A, EPB41L4, NBL4 Erythrocyte membrane protein band 4.1-like 4A EPB41L4A 64097 ENSG00000129595 Epb41l4a (MGI:103007) -chr5 112707497 112846238 5q22.2 5q22.2 611731 APC, GS, FPC, BTPS2, DESMD APC regulator of WNT signaling pathway APC 324 ENSG00000134982 150kb distal to MCC Colorectal cancer, somatic, 114500 (3); Brain tumor-polyposis syndrome 2, 175100 (3), Autosomal dominant; Desmoid disease, hereditary, 135290 (3), Autosomal dominant; Adenoma, periampullary, somatic, 175100 (3); Hepatoblastoma, somatic, 114550 (3); Gastric cancer, somatic, 613659 (3); Gastric adenocarcinoma and proximal polyposis of the stomach, 619182 (3), Autosomal dominant; Gardner syndrome, 175100 (3), Autosomal dominant; Adenomatous polyposis coli, 175100 (3), Autosomal dominant Apc (MGI:88039) -chr5 112861286 112898370 5q21-q22 5q22.2 182175 SRP19 Signal recognition particle 19 SRP19 6728 ENSG00000153037 within 100kb of APC Srp19 (MGI:1913634) -chr5 112876384 112922288 5q22-q23 5q22.2 125265 REEP5, D5S346, DP1, C5orf18 Receptor expression-enhancing protein 5 REEP5 7905 ENSG00000129625 Reep5 (MGI:1270152) -chr5 112976701 113022194 5q21-q22 5q22.2 609844 DCP2 Decapping enzyme 2, S. cerevisiae, homolog of DCP2 167227 ENSG00000172795 Dcp2 (MGI:1917890) -chr5 113022105 113488452 5q21 5q22.2 159350 MCC MCC regulator of WNT signaling pathway MCC 4163 ENSG00000171444 Colorectal cancer, somatic, 114500 (3) Mcc (MGI:96930) -chr5 113432552 113434988 5q22.2 5q22.2 610709 TSSK1, STK22D Testis-specific serine/threonine kinase 1 TSSK1B 83942 ENSG00000212122 pseudogene on chr22 Tssk1 (MGI:1347557) -chr5 113513682 113595283 5q22.2 5q22.2 616530 YTHDC2, CAHL YTH domain-containing protein 2 YTHDC2 64848 ENSG00000047188 Ythdc2 (MGI:2448561) -chr5 113800000 115900000 5q22 613412 EOE2 Esophagitis, eosinophilic, 2 100499167 association with rs3806932 {Esophagitis, eosinophilic, 2}, 613412 (2), Multifactorial -chr5 113800000 115900000 5q22 601079 ZRSR2P1, ZRSR1, U2AF1RS1 ZRSR2 pseudogene 1 ZRSR2P1 7310 ENSG00000212643 -chr5 114055977 114496499 5q21.2-q22.1 5q22.3 605879 KCNN2, SK2 Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 2 KCNN2 3781 ENSG00000080709 Kcnn2 (MGI:2153182) -chr5 115124771 115180295 5q22.3 5q22.3 609317 TRIM36, RBCC728, ANPH1 Tripartite motif-containing protein 36 TRIM36 55521 ENSG00000152503 mutation identified in 1 ANPH1 patient ?Anencephaly 1, 206500 (3), Autosomal recessive Trim36 (MGI:106264) -chr5 115200246 115262886 5q22.3 5q22.3 602031 PGGT1B Protein geranylgeranyltransferase type I, beta subunit PGGT1B 5229 ENSG00000164219 Pggt1b (MGI:1917514) -chr5 115520907 115544777 5q22.3 5q22.3 608767 FEM1C, KIAA1785 Fem-1 homolog C FEM1C 56929 ENSG00000145780 Fem1c (MGI:2444737) -chr5 115578495 115602478 5q23.1 5q22.3 608321 TIRP, TRAM Toll/interleukin-1 receptor domain-containing protein TICAM2 353376 ENSG00000243414 Ticam2 (MGI:3040056) -chr5 115804732 115816658 5q22-q23 5q22.3 603943 CDO1 Cysteine dioxygenase, type 1 CDO1 1036 ENSG00000129596 Cdo1 (MGI:105925) -chr5 115828199 115841564 5q22.3 5q22.3 609608 ATG12, APG12, FBR93 Autophagy-related 12 ATG12 9140 ENSG00000145782 Atg12 (MGI:1914776) -chr5 115841605 115914080 5q23.1 5q22.3-q23.1 601507 AP3S1, CLAPS3 Adaptor-related protein complex 3, sigma 1 subunit AP3S1 1176 ENSG00000177879 previously assigned to chr. 12 by FISH Ap3s1 (MGI:1337062) -chr5 115962474 116027605 5q23.1 5q23.1 610046 LVRN Laeverin LVRN 206338 ENSG00000172901 Lvrn (MGI:1921824) -chr5 116085024 116293286 5q23.1 5q23.1 616704 COMMD10 COMM domain-containing protein 10 COMMD10 51397 ENSG00000145781 Commd10 (MGI:1916706) -chr5 116443554 116574822 5q23.1 5q23.1 605885 SEMA6A Semaphorin 6A SEMA6A 57556 ENSG00000092421 Sema6a (MGI:1203727) -chr5 119071001 119249431 5q21-q22 5q23.1 605671 DMXL1 DMX-like 1 DMXL1 1657 ENSG00000172869 Dmxl1 (MGI:2443926) -chr5 119268758 119399687 5q23.1 5q23.1 612111 TNFAIP8, SCCS2 Tumor necrosis factor-alpha-induced protein 8 TNFAIP8 25816 ENSG00000145779 Tnfaip8 (MGI:2147191) -chr5 119452496 119542331 5q23.1 5q23.1 601860 HSD17B4, PRLTS1 Hydroxysteroid (17-beta) dehydrogenase 4 HSD17B4 3295 ENSG00000133835 D-bifunctional protein deficiency, 261515 (3), Autosomal recessive; Perrault syndrome 1, 233400 (3), Autosomal recessive Hsd17b4 (MGI:105089) -chr5 119629557 119635821 5q23.1 5q23.1 618401 FAM170A, ZNFD Family with sequence similarity 170, member A FAM170A 340069 ENSG00000164334 Fam170a (MGI:2684939) -chr5 120464221 120794586 5q23.1 5q23.1 615931 PRR16, LARGEN Proline-rich protein 16 PRR16 51334 ENSG00000184838 Prr16 (MGI:1918623) -chr5 121851881 121852832 5q21.3 5q23.1 608847 FTMT Ferritin, mitochondrial FTMT 94033 ENSG00000181867 Ftmt (MGI:1914884) -chr5 121961974 122075623 5q23.1 5q23.1 610479 SRFBP1, P49 Serum response factor binding protein 1 SRFBP1 153443 ENSG00000151304 Srfbp1 (MGI:1914472) -chr5 122063194 122078258 5q23.3-q31.2 5q23.1 153455 LOX, AAT10 Lysyl oxidase LOX 4015 ENSG00000113083 Aortic aneurysm, familial thoracic 10, 617168 (3), Autosomal dominant Lox (MGI:96817) -chr5 122311353 122464218 5q23.1-q23.3 5q23.2 603779 SNCAIP Synuclein-alpha-interacting protein (synphilin 1) SNCAIP 9627 ENSG00000064692 Sncaip (MGI:1915097) -chr5 122774995 122834542 5q23 5q23.2 605929 SNX2 Sorting nexin 2 SNX2 6643 ENSG00000205302 Snx2 (MGI:1915054) -chr5 123023249 123036724 5q23.2 5q23.2 123842 PPIC Peptidyl-prolyl isomerase C PPIC 5480 ENSG00000168938 Ppic (MGI:97751) -chr5 123089147 123194265 5q23.2 5q23.2 616982 PRDM6, PRISM, PDA3 PR domain-containing protein 6 PRDM6 93166 ENSG00000061455 Patent ductus arteriosus 3, 617039 (3), Autosomal dominant Prdm6 (MGI:2684938) -chr5 123344889 123423841 5q23.2 5q23.2 613446 CEP120, CCDC100, SRTD13, JBTS31 Centrosomal protein, 120kD CEP120 153241 ENSG00000168944 Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3), Autosomal recessive; Joubert syndrome 31, 617761 (3), Autosomal recessive Cep120 (MGI:2147298) -chr5 123512115 123617048 5q23 5q23.2 604253 CSNK1G3 Casein kinase I, gamma-3 CSNK1G3 1456 ENSG00000151292 Csnk1g3 (MGI:1917675) -chr5 126541840 126595218 5q31 5q23.2 107323 ALDH7A1, ATQ1, EPD, PDE Aldehyde dehydrogenase 7 family, member A1 (antiquitin 1) ALDH7A1 501 ENSG00000164904 Epilepsy, pyridoxine-dependent, 266100 (3), Autosomal recessive Aldh7a1 (MGI:108186) -chr5 126600946 126627251 5q23.2 5q23.2 604924 RNUXA, PHAX RNA, U small nuclear, export adaptor PHAX 51808 ENSG00000164902 Phax (MGI:1891839) -chr5 126776622 126837019 5q23.2 5q23.2 150340 LMNB1, ADLD, MCPH26 Lamin B1 LMNB1 4001 ENSG00000113368 Leukodystrophy, adult-onset, autosomal dominant, 169500 (3), Autosomal dominant; Microcephaly 26, primary, autosomal dominant, 619179 (3), Autosomal dominant Lmnb1 (MGI:96795) -chr5 126867713 127032401 5q23.2 5q23.2 613333 MARCH3 Membrane-associated RING-CH finger protein 3 MARCHF3 115123 ENSG00000173926 Marchf3 (MGI:2443667) -chr5 127229518 127461221 5q23.2 5q23.2 612453 MEGF10, KIAA1780, EMARDD Multiple epidermal growth factor-like domains 10 MEGF10 84466 ENSG00000145794 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3), Autosomal recessive; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3), Autosomal recessive Megf10 (MGI:2685177) -chr5 127649081 127658629 5q23.2 5q23.2 618746 KABE Cortexin 3 CTXN3 613212 ENSG00000205279 Ctxn3 (MGI:3642816) -chr5 127900000 181538259 5q23-q35 181510 SCZD1 Schizophrenia susceptibility locus, chromosome 5-related 6377 max lod at D5S820 {Schizophrenia}, 181500 (2), Autosomal dominant -chr5 128083765 128189676 5q23.3 5q23.3 600840 SLC12A2, NKCC1, KILQS Solute carrier family 12 (sodium/potassium/chloride transporters), member 2 SLC12A2 6558 ENSG00000064651 Kilquist syndrome, 619080 (3), Autosomal recessive; Delpire-McNeill syndrome, 619083 (3), Autosomal dominant; Deafness, autosomal dominant 78, 619081 (3), Autosomal dominant Slc12a2 (MGI:101924) -chr5 128257908 128538244 5q23-q31 5q23.3 612570 FBN2, CCA, EOMD Fibrillin-2 FBN2 2201 ENSG00000138829 Macular degeneration, early-onset, 616118 (3), Autosomal dominant; Contractural arachnodactyly, congenital, 121050 (3), Autosomal dominant Fbn2 (MGI:95490) -chr5 128965487 129033634 5q23.3 5q23.3 604196 SLC27A6, FATP6, VLCSH1 Solute carrier family 27 (fatty acid transporter), member 6 SLC27A6 28965 ENSG00000113396 Slc27a6 (MGI:3036230) -chr5 129460280 129738682 5q31 5q23.3 607513 ADAMTS19 ADAM metallopeptidase domain with thrombospondin type 1 motif, 19 ADAMTS19 171019 ENSG00000145808 Adamts19 (MGI:2442875) -chr5 129903383 130186636 5q31 5q23.3 609963 CHSY3, CSS3 Chondroitin sulfate synthase 3 CHSY3 337876 ENSG00000198108 Chsy3 (MGI:1926173) -chr5 131159026 131165255 5q31.2 5q23.3 601314 HINT1, PRKCNH1, NMAN Histidine triad nucleotide-binding protein 1 (protein kinase C inhibitor 1) HINT1 3094 ENSG00000169567 Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3), Autosomal recessive Hint1 (MGI:1321133) -chr5 131170943 131205427 5q23.3 5q23.3-q31.1 615831 LYRM7, MZM1L, MC3DN8 LYR motif-containing protein 7 LYRM7 90624 ENSG00000186687 Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive Lyrm7 (MGI:1922780) -chr5 131200000 150400000 5q31.1-q32 607683 DFNA52, DFNA42 Deafness, autosomal dominant 52 max lod at D5S2017 Deafness, autosomal dominant 52, 607683 (2), Autosomal dominant -chr5 131200000 153300000 5q31.1-q33.1 605598 IDDM18 Insulin-dependent diabetes mellitus-18 57044 close to IL12B {Diabetes mellitus, insulin-dependent, 18}, 605598 (2) -chr5 131200000 136900000 5q31.1 147061 IGES Immunoglobulin E concentration, serum 3478 {?Allergy and asthma susceptibility}, 147061 (2) -chr5 131200000 153300000 5q31.1-q33.1 612599 PSORS11 Psoriasis susceptibility 11 100271719 associated with rs10045431 {Psoriasis susceptibility 11}, 612599 (2) -chr5 131264052 131394671 5q31 5q31.1 619457 CDC42SE2, SPEC2 CDC42 small effector 2 CDC42SE2 56990 ENSG00000158985 Cdc42se2 (MGI:1919979) -chr5 131423920 131635228 5q31.1 5q31.1 610499 RAPGEF6, RAGEF2, PDZGEF2 RAP guanine nucleotide exchange factor 6 RAPGEF6 51735 ENSG00000158987 Rapgef6 (MGI:2384761) -chr5 131641713 131797016 5q23.3 5q31.1 610594 FNIP1, KIAA1961 Folliculin-interacting protein 1 FNIP1 96459 ENSG00000217128 Fnip1 (MGI:2444668) -chr5 131806989 131945662 5q31.1 5q31.1 616232 MEIKIN Meiotic kinetochore factor MEIKIN 728637 ENSG00000239642 Meikin (MGI:1922097) -chr5 131949972 132012067 5q31 5q31.1 604443 ACSL6, FACL6, ACS2 Acyl-CoA synthetase long-chain family member 6 ACSL6 23305 ENSG00000164398 Myelodysplastic syndrome (3); Myelogenous leukemia, acute (3) Acsl6 (MGI:894291) -chr5 132060654 132063203 5q31.1 5q31.1 147740 IL3 Interleukin-3 IL3 3562 ENSG00000164399 9kb from CSF2; order: cen-5'IL3-5'CF2-qter Il3 (MGI:96552) -chr5 132073788 132076169 5q31.1 5q31.1 138960 CSF2, GMCSF Colony-stimulating factor-2 (granulocyte-macrophage) CSF2 1437 ENSG00000164400 order: cen-CSF2-CSF1-FMS-qter Csf2 (MGI:1339752) -chr5 132190146 132227852 5q31 5q31.1 600608 P4HA2, MYP25 Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 2 P4HA2 8974 ENSG00000072682 Myopia 25, autosomal dominant, 617238 (3), Autosomal dominant P4ha2 (MGI:894286) -chr5 132257670 132273453 5q31.1 5q31.1 603422 RIL LIM domain protein ril PDLIM4 8572 ENSG00000131435 {Osteoporosis, susceptibility to}, 166710 (3), Autosomal dominant Pdlim4 (MGI:1353470) -chr5 132294383 132344198 5q31 5q31.1 604190 SLC22A4, OCTN1 Solute carrier family 22 (organic cation transporter), member 4 SLC22A4 6583 ENSG00000197208 {Rheumatoid arthritis, susceptibility to}, 180300 (3) Slc22a4 (MGI:1353479) -chr5 132369703 132395613 5q31.1 5q31.1 603377 SLC22A5, OCTN2, CDSP, SCD Solute carrier, family 22 (organic cation transporter), member 5 SLC22A5 6584 ENSG00000197375 Carnitine deficiency, systemic primary, 212140 (3), Autosomal recessive Slc22a5,Slc22a21 (MGI:1929481,MGI:1329012) -chr5 132481608 132490788 5q31.1 5q31.1 147575 IRF1, MAR Interferon regulatory factor-1 IRF1 3659 ENSG00000125347 Nonsmall cell lung cancer, somatic, 211980 (3); Myelodysplastic syndrome, preleukemic (3); Gastric cancer, somatic, 613659 (3); Myelogenous leukemia, acute (3) Irf1 (MGI:96590) -chr5 132539193 132556863 5q31.1 5q31.1 147850 IL5 Interleukin-5 IL5 3567 ENSG00000113525 < 310kb from IL4 Il5 (MGI:96557) -chr5 132556976 132646348 5q31 5q31.1 604040 RAD50, NBSLD RAD50 double strand break repair protein RAD50 10111 ENSG00000113522 Nijmegen breakage syndrome-like disorder, 613078 (3), Autosomal recessive Rad50 (MGI:109292) -chr5 132656521 132661109 5q31 5q31.1 147683 IL13, ALRH, BHR1 Interleukin-13 IL13 3596 ENSG00000169194 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Allergic rhinitis, susceptibility to}, 607154 (3) Il13 (MGI:96541) -chr5 132673988 132682677 5q31.1 5q31.1 147780 IL4 Interleukin-4 IL4 3565 ENSG00000113520 Il4 (MGI:96556) -chr5 132688807 132737562 5q31 5q31.1 604683 KIF3A Kinesin family member 3A KIF3A 11127 ENSG00000131437 Kif3a (MGI:107689) -chr5 132750818 132778215 5q31-q33 5q31.1 608418 SEPT8, KIAA0202 Septin 8 SEPTIN8 23176 ENSG00000164402 Septin8 (MGI:894310) -chr5 132822140 132831626 5q31.1 5q31.1 611179 SHROOM1, APXL2, KIAA1960 SHROOM family member 1 SHROOM1 134549 ENSG00000164403 Shroom1 (MGI:1919024) -chr5 132861180 132866650 5q31.1 5q31.1 601918 GDF9, POF14 Growth/differentiation factor 9 GDF9 2661 ENSG00000164404 mutation identified in 1 patient ?Premature ovarian failure 14, 618014 (3), Autosomal recessive Gdf9 (MGI:95692) -chr5 132866641 132868846 5q31.1 5q31.1 612080 UQCRQ, QPC, MC3DN4 Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kD UQCRQ 27089 ENSG00000164405 Mitochondrial complex III deficiency, nuclear type 4, 615159 (3), Autosomal recessive Uqcrq (MGI:107807) -chr5 132873667 132875045 5q31.1 5q31.1 611373 LEAP2 Liver-expressed antimicrobial peptide 2 LEAP2 116842 ENSG00000164406 Leap2 (MGI:2672795) -chr5 132875380 132963654 5q31 5q31.1 604417 AFF4, AF5Q31, CHOPS AF4/FMR2 family, member 4 AFF4 27125 ENSG00000072364 CHOPS syndrome, 616368 (3), Autosomal dominant Aff4 (MGI:2136171) -chr5 133052012 133106448 5q31.1 5q31.1 601113 HSPA4 Heat-shock protein family A (HSP70), member 4 HSPA4 3308 ENSG00000170606 Hspa4 (MGI:1342292) -chr5 133913676 133917268 5q31.1 5q31.1 616333 WSPAR, lncTCF7 WNT signaling pathway activating noncoding RNA WSPAR 105664404 ENSG00000249073 -chr5 133971870 134070986 5q31 5q31.1 604492 VDAC1 Voltage-dependent anion channel 1 VDAC1 7416 ENSG00000213585 Vdac1 (MGI:106919) -chr5 134114680 134148228 5q31.1 5q31.1 189908 TCF7 Transcription factor-7, T-cell specific TCF7 6932 ENSG00000081059 originally called TCF-1 Tcf7 (MGI:98507) -chr5 134148934 134176949 5q31 5q31.1 601434 SKP1, SKP1A, TCEB1L, OCP2 S-phase kinase-associated protein 1 (p19A) SKP1 6500 ENSG00000113558 pseudogene on chr.7 Skp1 (MGI:103575) -chr5 134194331 134226072 5q23-q31 5q31.1 176915 PPP2CA, NEDLBA Protein phosphatase-2 (formerly 2A), catalytic subunit, alpha isoform PPP2CA 5515 ENSG00000113575 Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 (3), Autosomal dominant Ppp2ca (MGI:1321159) -chr5 134236119 134372379 5q31 5q31.1 608459 CDKL3, NKIAMRE Cyclin-dependent kinase-like 3 CDKL3 51265 ENSG00000006837 Cdkl3 (MGI:2388268) -chr5 134371568 134392107 5q23-q31 5q31.1 179095 UBE2B, RAD6B Ubiquitin-conjugating enzyme E2B (RAD6 homolog) UBE2B 7320 ENSG00000119048 Ube2b (MGI:102944) -chr5 134524152 134583227 5q31.1 5q31.1 610515 PHF15, JADE2, KIAA0239 PHD finger protein 15 JADE2 23338 ENSG00000043143 Jade2 (MGI:1924151) -chr5 134601148 134632827 5q31.1 5q31.1 607690 SAR1B, CMRD, SARA2, ANDD Sar1a, S. cerevisiae, homolog 2 SAR1B 51128 ENSG00000152700 Chylomicron retention disease, 246700 (3), Autosomal recessive Sar1b (MGI:1913647) -chr5 134647756 134727908 5q31.1 5q31.1 607183 SEC24A SEC24-related gene family, member A SEC24A 10802 ENSG00000113615 Sec24a (MGI:1924621) -chr5 134738547 134752156 5q23 5q31.1 601118 CAMLG Calcium-modulating cyclophilin ligand CAMLG 819 ENSG00000164615 Caml (MGI:104728) -chr5 134758777 134831120 5q31.1 5q31.1 617848 DDX46, PRP5, KIAA0801 DEAD-box helicase 46 DDX46 9879 ENSG00000145833 Ddx46 (MGI:1920895) -chr5 134873769 134901634 5q31.1 5q31.1 617778 TXNDC15, C5orf14, BUG Thioredoxin domain-containing protein 15 TXNDC15 79770 ENSG00000113621 Txndc15 (MGI:1916922) -chr5 134905130 134962643 5q31.2 5q31.1 609836 PCBD2, DCOH2, DCOHM Pterin-4-alpha-carbinolamine dehydratase 2 PCBD2 84105 ENSG00000132570 Pcbd2 (MGI:1919812) -chr5 134967906 135011695 5q31.1 5q31.1 609120 CATSPER3, CACRC Cation channel, sperm-associated, 3 CATSPER3 347732 ENSG00000152705 Catsper3 (MGI:1924106) -chr5 135027733 135034227 5q31 5q31.1 602149 PITX1, PTX1, BFT, POTX, CCF, LBNBG Paired-like homeodomain transcription factor-1 PITX1 5307 ENSG00000069011 Liebenberg syndrome, 186550 (4), Autosomal dominant; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3), Autosomal dominant Pitx1 (MGI:107374) -chr5 135334380 135401997 5q31.3-q32 5q31.1 610054 H2AFY, MH2A1 H2A histone family, member Y MACROH2A1 9555 ENSG00000113648 Macroh2a1 (MGI:1349392) -chr5 135444213 135447347 5q31.1 5q31.1 609710 C5orf20, DCNP1 Dendritic cell nuclear protein 1 DCANP1 140947 ENSG00000251380 -chr5 135444225 135452350 5q31.2 5q31.1 612663 TIFAB TRAF-interacting protein with forkhead-associated domain, family member B TIFAB 497189 ENSG00000255833 Tifab (MGI:2385852) -chr5 135534281 135535963 5q23-q31 5q31.1 601726 NEUROG1, NEUROD3 Neurogenin 1 NEUROG1 4762 ENSG00000181965 Neurog1 (MGI:107754) -chr5 135570678 135578990 5q31 5q31.1 604186 CXCL14, SCYB14, BRAK Chemokine, C-X-C motif, ligand 14 CXCL14 9547 ENSG00000145824 Cxcl14 (MGI:1888514) -chr5 135579171 135888636 5q31.1 5q31.1 616150 SLC25A48 Solute carrier family 25, member 48 SLC25A48 153328 ENSG00000145832 Slc25a48 (MGI:2145373) -chr5 135892245 135895840 5q31.1 5q31.1 146931 IL9 Interleukin-9 IL9 3578 ENSG00000145839 Il9 (MGI:96563) -chr5 135930296 135941995 5q31.1 5q31.1 609087 FBXL21, FBL21, FBXL3B, FBL3B F-box and leucine-rich repeat protein 21 FBXL21P 26223 -chr5 135946903 135954982 5q31.1-q32 5q31.1 602882 LECT2 Leukocyte cell-derived chemotaxin 2 LECT2 3950 ENSG00000145826 Lect2 (MGI:1278342) -chr5 136028987 136063817 5q31 5q31.1 601692 TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD Transforming growth factor, beta-induced, 68kD TGFBI 7045 ENSG00000120708 Corneal dystrophy, Avellino type, 607541 (3), Autosomal dominant; Corneal dystrophy, Reis-Bucklers type, 608470 (3); Corneal dystrophy, Thiel-Behnke type, 602082 (3), Autosomal dominant; Corneal dystrophy, Groenouw type I, 121900 (3), Autosomal dominant; Corneal dystrophy, epithelial basement membrane, 121820 (3), Autosomal dominant; Corneal dystrophy, lattice type I, 122200 (3), Autosomal dominant; Corneal dystrophy, lattice type IIIA, 608471 (3), Autosomal dominant Tgfbi (MGI:99959) -chr5 136080490 136080597 5q31 5q31.1 614938 VTRNA2-1, NC886, CBL3, VTRNA2 Vault RNA 2-1 VTRNA2-1 100126299 ENSG00000278815 -chr5 136132844 136182732 5q31 5q31.1 603110 MADH5, SMAD5 Mothers against decapentaplegic, Drosophila, homolog of, 5 SMAD5 4090 ENSG00000113658 Smad5 (MGI:1328787) -chr5 136975297 137499325 5q31 5q31.2 602264 SPOCK Testican SPOCK1 6695 ENSG00000152377 previously mapped to chr.21 Spock1 (MGI:105371) -chr5 137617499 137736088 5q31 5q31.2 605775 KLHL3, PHA2D Kelch-like 3 KLHL3 26249 ENSG00000146021 Pseudohypoaldosteronism, type IID, 614495 (3), Autosomal dominant, Autosomal recessive Klhl3 (MGI:2445185) -chr5 137647571 137647648 5q31.2 5q31.2 619450 MIR874 Micro RNA 874 MIR874 100126343 ENSG00000216009 Mir874 (MGI:3718564) -chr5 137745650 137754362 5q31 5q31.2 609409 HNRPA0 Heterogeneous nuclear ribonucleoprotein A0 HNRNPA0 10949 ENSG00000177733 Hnrnpa0 (MGI:1924384) -chr5 137801192 137810750 5q31 5q31.2 601770 NPY6R, PP2 Neuropeptide Y receptor Y6 NPY6R 4888 ENSG00000226306 ?nonfunctional pseudogene -chr5 137867281 137887850 5q31 5q31.2 604103 MYOT, TTOD, MFM3 Myotilin (titin immunoglobulin domain protein) MYOT 9499 ENSG00000120729 Myopathy, myofibrillar, 3, 609200 (3), Autosomal dominant; Myopathy, spheroid body, 182920 (3), Autosomal dominant Myot (MGI:1889800) -chr5 137889410 137942746 5q31 5q31.2 604669 PKD2L2 Polycystin 2-like 2 PKD2L2 27039 ENSG00000078795 Pkd2l2 (MGI:1858231) -chr5 137937959 138051960 5q31.2 5q31.2 609371 FAM13B, C5orf5 Family with sequence similarity 13, member B FAM13B 51306 ENSG00000031003 Fam13b (MGI:2447834) -chr5 138077366 138092899 5q31.2 5q31.2 606360 WNT8A Wingless-type MMTV integration site family, member 8A WNT8A 7478 ENSG00000061492 Wnt8a (MGI:107924) -chr5 138115174 138139470 5q23-q31 5q31.2 603575 NME5, NM23H5 NME/NM23 family, member 5 NME5 8382 ENSG00000112981 Nme5 (MGI:1922783) -chr5 138139769 138178629 5q31.2 5q31.2 602848 BRD8, SMAP Bromodomain-containing protein 8 BRD8 10902 ENSG00000112983 Brd8 (MGI:1925906) -chr5 138179111 138187722 5q31 5q31.2 605664 KIF20A, RAB6KIFL, RCM6 Kinesin family member 20A KIF20A 10112 ENSG00000112984 mutation identified in 1 RCM6 family ?Cardiomyopathy, familial restrictive, 6, 619433 (3), Autosomal recessive Kif20a (MGI:1201682) -chr5 138187649 138213322 5q31.1 5q31.2 603462 CDC23, APC8 Cell division cycle 23 (anaphase-promoting complex 8) CDC23 8697 ENSG00000094880 Cdc23 (MGI:1098815) -chr5 138252379 138274620 5q31 5q31.2 605710 GFRA3 GDNF family receptor alpha-3 GFRA3 2676 ENSG00000146013 Gfra3 (MGI:1201403) -chr5 138285264 138338354 5q31 5q31.2 157680 CDC25C Cell division cycle 25C CDC25C 995 ENSG00000158402 Cdc25c (MGI:88350) -chr5 138337556 138349728 5q31.2 5q31.2 609372 FAM53C, C5orf6 Family with sequence similarity 53, member C FAM53C 51307 ENSG00000120709 Fam53c (MGI:1913556) -chr5 138352684 138437026 5q31 5q31.2 609373 KDM3B, C5orf7, KIAA1082, JMJD1B, DIJOS Lysine demethylase 3B KDM3B 51780 ENSG00000120733 Diets-Jongmans syndrome, 618846 (3), Autosomal dominant Kdm3b (MGI:1923356) -chr5 138439056 138446964 5q31 5q31.2 609347 REEP2, C5orf19, SPG72 Receptor expression-enhancing protein 2 REEP2 51308 ENSG00000132563 mutation identified in 1 family each SPG72 AR and AD ?Spastic paraplegia 72, autosomal dominant, 615625 (3), Autosomal dominant, Autosomal recessive; ?Spastic paraplegia 72, autosomal recessive, 615625 (3), Autosomal dominant, Autosomal recessive Reep2 (MGI:2385070) -chr5 138465478 138469302 5q31.1 5q31.2 128990 EGR1 Early growth response-1 EGR1 1958 ENSG00000120738 Egr1 (MGI:95295) -chr5 138506094 138543235 5q31.1 5q31.2 600285 ETF1, RF1, ERF1 Eukaryotic translation termination factor-1 ETF1 2107 ENSG00000120705 Etf1 (MGI:2385071) -chr5 138553755 138575400 5q31.2 5q31.2 600548 HSPA9, HSPA9B, MOT2, GRP75, EVPLS, SIDBA4 Heat-shock 70kD protein-9 (mortalin) HSPA9 3313 ENSG00000113013 Even-plus syndrome, 616854 (3), Autosomal recessive; Anemia, sideroblastic, 4, 182170 (3), Autosomal dominant Hspa9 (MGI:96245) -chr5 138753424 138935033 5q31 5q31.2 116805 CTNNA1, MDPT2 Catenin (cadherin-associated protein), alpha 1, 102kD CTNNA1 1495 ENSG00000044115 Macular dystrophy, patterned, 2, 608970 (3), Autosomal dominant Ctnna1 (MGI:88274) -chr5 138868920 138875334 5q31.2 5q31.2 610868 LRRTM2, KIAA0416 Leucine-rich repeat transmembrane protein 2 LRRTM2 26045 ENSG00000146006 Lrrtm2 (MGI:2389174) -chr5 138946723 139198367 5q31 5q31.2 608005 SIL1, BAP, MSS SIL1 nucleotide exchange factor SIL1 64374 ENSG00000120725 Marinesco-Sjogren syndrome, 248800 (3), Autosomal recessive Sil1 (MGI:1932040) -chr5 139274100 139331676 5q31.2 5q31.2 164015 MATR3, MPD2, ALS21 Matrin 3 MATR3 9782 ENSG00000015479 Amyotrophic lateral sclerosis 21, 606070 (3), Autosomal dominant Matr3 (MGI:1298379) -chr5 139341849 139369716 5q31.2 5q31.2 605604 PAIP2, PAIP2A Polyadenylate-binding protein-interacting protein 2 PAIP2 51247 ENSG00000120727 Paip2 (MGI:1915119) -chr5 139367195 139384552 5q31.2-q31.3 5q31.2 603790 SLC23A1, SVCT1 Solute carrier family 23 (nucleobase transporter), member 1 (sodium-dependent vitamin C transporter 1) SLC23A1 9963 ENSG00000170482 opposite orientation to MATR3 Slc23a1 (MGI:1341903) -chr5 139387466 139389912 5q31.2 5q31.2 609447 MZB1, PACAP, MGC29506 Marginal zone B and B1 cell-specific protein MZB1 51237 ENSG00000170476 Mzb1 (MGI:1917066) -chr5 139448559 139462742 5q31 5q31.2 615736 ECSCR, ECSM2, ARIA Endothelial cell surface-expressed chemotaxis and apoptosis regulator ECSCR 641700 ENSG00000249751 Ecscr (MGI:1915795) -chr5 139475532 139482757 5q31.2 5q31.2 612374 STING1, TMEM173, MPYS, SAVI Stimulator of interferon response cGAMP interactor 1 STING1 340061 ENSG00000184584 STING-associated vasculopathy, infantile-onset, 615934 (3), Autosomal dominant Sting1 (MGI:1919762) -chr5 139561285 139628433 5q31.2 5q31.2 602962 UBE2D2, UBCH5B, UBC4 Ubiquitin-conjugating enzyme E2D 2 UBE2D2 7322 ENSG00000131508 Ube2d2a,Ube2d2b (MGI:1930715,MGI:1920568) -chr5 139647298 139683881 5q31.3 5q31.2 612752 CXXC5 CXXC finger protein 5 CXXC5 51523 ENSG00000171604 Cxxc5 (MGI:1914643) -chr5 139846780 140043674 5q23-q33 5q31.2 603818 NRG2 Neuregulin 2 NRG2 9542 ENSG00000158458 Nrg2 (MGI:1098246) -chr5 140100000 160500000 5q31-q33 608174 AITD2 Autoimmune thyroid disease, susceptibility to, 2 387579 {Autoimmune thyroid disease, susceptibility to, 2}, 608174 (2) -chr5 140100000 160500000 5q31-q33 605845 ATOD6 Dermatitis, atopic, 6 114477 between D5S436 and D5S643 {Dermatitis, atopic, susceptibility to, 6}, 605845 (2) -chr5 140100000 160500000 5q31-q33 609754 CELIAC2 Celiac disease, susceptibility to, 2 317782 {Celiac disease, susceptibility to, 2}, 609754 (2) -chr5 140100000 145100000 5q31 615649 DFNA54 Deafness, autosomal dominant 54 448962 between D5S1972 and D5S410 Deafness, autosomal dominant 54, 615649 (2), Autosomal dominant -chr5 140100000 160500000 5q31-q33 131400 EOS Eosinophilia, familial 7908 Eosinophilia, familial, 131400 (2), Autosomal dominant -chr5 140100000 150400000 5q31.3-q32 601101 HHT3, ORW3 Hereditary hemorrhagic telangiectasia, type 3 780903 Telangiectasia, hereditary hemorrhagic, type 3, 601101 (2) -chr5 140100000 145100000 5q31 606348 IBD5 Inflammatory bowel disease 5 50941 {Inflammatory bowel disease 5}, 606348 (2) -chr5 140100000 145100000 5q31 604966 PCDHA@ Protocadherin-alpha gene cluster PCDHA@ 56117 -chr5 140100000 145100000 5q31 604967 PCDHB@ Protocadherin-beta gene cluster PCDHB@ 56116 -chr5 140100000 145100000 5q31 604968 PCDHG Protocadherin-gamma gene cluster PCDHG@ 56115 -chr5 140100000 145100000 5q31 606263 PDB4 Paget disease of bone 4 94003 Paget disease of bone 4, 606263 (2), Autosomal dominant -chr5 140100000 160500000 5q31-q33 248310 PFBI Plasmodium falciparum blood infection levels 7910 {Malaria, intensity of infection}, 248310 (2), Autosomal recessive -chr5 140100000 145100000 5q31 615197 RLS8 Restless legs syndrome, susceptibility to, 8 101448072 {Restless legs syndrome 8}, 615197 (2) -chr5 140100000 160500000 5q31-q33 181460 SM1 Schistosoma mansoni infection, susceptibility/resistance to 7911 {Schistosoma mansoni infection, susceptibility/resistance to}, 181460 (2), Autosomal dominant -chr5 140114108 140125618 5q31 5q31.3 600473 PURA, PUR1, MRD31 Purine-rich element binding protein A PURA 5813 ENSG00000185129 Mental retardation, autosomal dominant 31, 616158 (3), Autosomal dominant Pura (MGI:103079) -chr5 140245034 140303100 5q31 5q31.3 604897 PFDN1 Prefoldin 1 PFDN1 5201 ENSG00000113068 Pfdn1 (MGI:1914449) -chr5 140332842 140346602 5q23 5q31.3 126150 HBEGF, DTR, DTSF, HEGFL Heparin-binding EGF-like growth factor (diphtheria toxin receptor) HBEGF 1839 ENSG00000113070 {Diphtheria, susceptibility to} (1) Hbegf (MGI:96070) -chr5 140359644 140375176 5q31.3 5q31.3 610207 SLC4A9, AE4 Solute carrier family 4 (anion exchanger), member 9 SLC4A9 83697 ENSG00000113073 Slc4a9 (MGI:2443384) -chr5 140401832 140539848 5q31.3 5q31.3 610500 ANKHD1, MASK, KIAA1085, VBARP Ankyrin repeat and KH domain-containing protein 1 ANKHD1 54882 ENSG00000131503 Ankhd1 (MGI:1921733) -chr5 140547661 140549575 5q31.3 5q31.3 603483 EIF4EBP3 Eukaryotic translation initiation factor 4E-binding protein 3 EIF4EBP3 8637 ENSG00000243056 Eif4ebp3 (MGI:1270847) -chr5 140550066 140558092 5q31.3 5q31.3 603819 SRA1 Steroid receptor RNA activator 1 SRA1 10011 ENSG00000213523 Sra1 (MGI:1344414) -chr5 140558267 140564597 5q31 5q31.3 602711 APBB3, FE65L2 Amyloid beta (A4) precursor protein-binding, family B, member 3 APBB3 10307 ENSG00000113108 Apbb3 (MGI:108404) -chr5 140631731 140633700 5q31.1 5q31.3 158120 CD14 CD14 antigen CD14 929 ENSG00000170458 Cd14 (MGI:88318) -chr5 140645284 140647629 5q31.2 5q31.3 602137 NDUFA2, MC1DN13 NADH-ubiquinone oxidoreductase subunit A2 NDUFA2 4695 ENSG00000131495 Mitochondrial complex I deficiency, nuclear type 13, 618235 (3), Autosomal recessive Ndufa2 (MGI:1343103) -chr5 140647817 140662479 5q31.3 5q31.3 600549 IK, RED IK cytokine, downregulator of HLA II IK 3550 ENSG00000113141 Ik (MGI:1345142) -chr5 140670793 140673575 5q31.3 5q31.3 609385 DND1 Dead end, zebrafish, homolog of, 1 DND1 373863 ENSG00000256453 Dnd1 (MGI:2447763) -chr5 140673904 140691369 5q31.3 5q31.3 142810 HARS1, HARS, USH3B, CMT2W Histidyl-tRNA synthetase 1 HARS1 3035 ENSG00000170445 Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3), Autosomal dominant; Usher syndrome type 3B, 614504 (3), Autosomal recessive Hars (MGI:108087) -chr5 140691454 140699304 5q31.3 5q31.3 600783 HARS2, HARSL, HARSR, HO3, PRLTS2 Histidyl-tRNA synthetase 2 HARS2 23438 ENSG00000112855 Perrault syndrome 2, 614926 (3), Autosomal recessive Hars2 (MGI:1918041) -chr5 140711275 140711372 5q31 5q31.3 612695 VTRNA1-1, HVG1, VAULTRC1 Vault RNA 1-1 VTRNA1-1 56664 ENSG00000199990 -chr5 140718925 140719012 5q31 5q31.3 612696 VTRNA1-2, HVG2, VAULTRC2 Vault RNA 1-2 VTRNA1-2 56663 ENSG00000202111 -chr5 140726158 140726245 5q31 5q31.3 612697 VTRNA1-3, HVG3, VAULTRC3 Vault RNA 1-3 VTRNA1-3 56662 ENSG00000202515 -chr5 140786135 141012346 5q31 5q31.3 606307 PCDHA1 Protocadherin-alpha 1 PCDHA1 56147 ENSG00000204970 Pcdha1 (MGI:2150982) -chr5 140794851 141012346 5q31 5q31.3 606308 PCDHA2 Protocadherin-alpha 2 PCDHA2 56146 ENSG00000204969 Pcdha2 (MGI:2681880) -chr5 140801056 141012346 5q31 5q31.3 606309 PCDHA3 Protocadherin-alpha 3 PCDHA3 56145 ENSG00000255408 Pcdha3 (MGI:2447313) -chr5 140807067 141012346 5q31 5q31.3 606310 PCDHA4 Protocadherin-alpha 4 PCDHA4 56144 ENSG00000204967 Gm37013,Pcdha10 (MGI:1298408,MGI:5610241) -chr5 140821612 141012346 5q31 5q31.3 606311 PCDHA5 Protocadherin-alpha 5 PCDHA5 56143 ENSG00000204965 Pcdha5 (MGI:1298371) -chr5 140827959 141012346 5q31 5q31.3 606312 PCDHA6 Protocadherin-alpha 6 PCDHA6 56142 ENSG00000081842 Pcdha6 (MGI:1298367) -chr5 140834268 141012346 5q31 5q31.3 606313 PCDHA7 Protocadherin-alpha 7 PCDHA7 56141 ENSG00000204963 Pcdha7,Pcdha8 (MGI:1298369,MGI:2681879) -chr5 140841186 141012346 5q31 5q31.3 606314 PCDHA8 Protocadherin-alpha 8 PCDHA8 56140 ENSG00000204962 Pcdha6 (MGI:1298367) -chr5 140847771 141012346 5q31 5q31.3 606315 PCDHA9 Protocadherin-alpha 9 PCDHA9 9752 ENSG00000204961 Pcdha7,Pcdha8 (MGI:1298369,MGI:2681879) -chr5 140855896 141012346 5q31 5q31.3 606316 PCDHA10 Protocadherin-alpha 10 PCDHA10 56139 ENSG00000250120 Pcdha9 (MGI:2447322) -chr5 140867512 141012346 5q31 5q31.3 606317 PCDHA11 Protocadherin-alpha 11 PCDHA11 56138 ENSG00000249158 Pcdha11 (MGI:1298372) -chr5 140875307 141012346 5q31 5q31.3 606318 PCDHA12 Protocadherin-alpha 12 PCDHA12 56137 ENSG00000251664 Pcdha9 (MGI:2447322) -chr5 140882123 141012346 5q31 5q31.3 606319 PCDHA13 Protocadherin-alpha 13 PCDHA13 56136 ENSG00000239389 Pcdha12 (MGI:1298370) -chr5 140926298 141012346 5q31 5q31.3 606320 PCDHAC1 Protocadherin-alpha, subfamily C, member 1 PCDHAC1 56135 ENSG00000248383 Pcdhac1 (MGI:1891442) -chr5 140966475 141012346 5q31 5q31.3 606321 PCDHAC2 Protocadherin-alpha, subfamily C, member 2 PCDHAC2 56134 ENSG00000243232 Pcdhac2 (MGI:1891443) -chr5 141051373 141059345 5q31 5q31.3 606327 PCDHB1 Protocadherin-beta 1 PCDHB1 29930 ENSG00000171815 Pcdhb1 (MGI:2136730) -chr5 141094614 141098702 5q31 5q31.3 606328 PCDHB2 Protocadherin-beta 2 PCDHB2 56133 ENSG00000112852 Pcdhb2 (MGI:2136735) -chr5 141100472 141103826 5q31 5q31.3 606329 PCDHB3 Protocadherin-beta 3 PCDHB3 56132 ENSG00000113205 Pcdhb3 (MGI:2136737) -chr5 141121817 141125622 5q31 5q31.3 606330 PCDHB4 Protocadherin-beta 4 PCDHB4 56131 ENSG00000081818 Pcdhb7,Pcdhb9,Pcdhb5 (MGI:2136744,MGI:2136741,MGI:2136739) -chr5 141135205 141138614 5q31 5q31.3 606331 PCDHB5 Protocadherin-beta 5 PCDHB5 26167 ENSG00000113209 Pcdhb8,Pcdhb12,Pcdhb4,Pcdhb6,Pcdhb10,Pcdhb11 (MGI:2136747,MGI:2136746,MGI:2136738,MGI:2136742,MGI:2136745,MGI:2136740) -chr5 141150056 141153286 5q31 5q31.3 606332 PCDHB6 Protocadherin-beta 6 PCDHB6 56130 ENSG00000113211 Pcdhb13 (MGI:2136748) -chr5 141172643 141176382 5q31 5q31.3 606333 PCDHB7 Protocadherin-beta 7 PCDHB7 56129 ENSG00000113212 Pcdhb15 (MGI:2136750) -chr5 141177789 141180538 5q31 5q31.3 606334 PCDHB8 Protocadherin-beta 8 PCDHB8 56128 ENSG00000120322 Pcdhb16 (MGI:2136752) -chr5 141182386 141186225 5q31 5q31.3 606345 PCDHB16 Protocadherin-beta 16 PCDHB16 57717 ENSG00000272674 Pcdhb17 (MGI:2136754) -chr5 141187160 141191540 5q31 5q31.3 606335 PCDHB9 Protocadherin-beta 9 PCDHB9 56127 ENSG00000177839 Pcdhb18 (MGI:2136756) -chr5 141192352 141195646 5q31 5q31.3 606336 PCHB10 Protocadherin-beta 10 PCDHB10 56126 ENSG00000120324 Pcdhb18 (MGI:2136756) -chr5 141199626 141203778 5q31 5q31.3 606337 PCDHB11 Protocadherin-beta 11 PCDHB11 56125 ENSG00000197479 Pcdhb19 (MGI:2136757) -chr5 141208718 141212570 5q31 5q31.3 606338 PCDHB12 Protocadherin-beta 12 PCDHB12 56124 ENSG00000120328 Pcdhb19 (MGI:2136757) -chr5 141213918 141218978 5q31 5q31.3 606339 PCDHB13 Protocadherin-beta 13 PCDHB13 56123 ENSG00000187372 Pcdhb16 (MGI:2136752) -chr5 141223342 141227758 5q31 5q31.3 606340 PCDHB14 Protocadherin-beta 14 PCDHB14 56122 ENSG00000120327 Pcdhb20 (MGI:2136758) -chr5 141245394 141249364 5q31 5q31.3 606341 PCDHB15 Protocadherin-beta 15 PCDHB15 56121 ENSG00000113248 Pcdhb22 (MGI:2136760) -chr5 141302634 141304048 5q31 5q31.3 608157 SLC25A2, ORNT2 Solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 2 SLC25A2 83884 ENSG00000120329 Slc25a2 (MGI:2137907) -chr5 141318489 141320783 5q31 5q31.3 600573 TAF7, TAF2F, TAFII55 TAF7 RNA polymerase II, TATA box-binding protein-associated factor, 55kD TAF7 6879 ENSG00000178913 Taf7 (MGI:1346348) -chr5 141330513 141512974 5q31 5q31.3 606288 PCDHGA1 Protocadherin-gamma, subfamily A, member 1 PCDHGA1 56114 ENSG00000204956 -chr5 141338759 141512974 5q31 5q31.3 606289 PCDHGA2 Protocadherin-gamma, subfamily A, member 2 PCDHGA2 56113 ENSG00000081853 -chr5 141343828 141512974 5q31 5q31.3 606290 PCDHGA3 Protocadherin-gamma, subfamily A, member 3 PCDHGA3 56112 ENSG00000254245 Pcdhga3 (MGI:1935215) -chr5 141350098 141512974 5q31 5q31.3 606299 PCDHGB1 Protocadherin-gamma, subfamily B, member 1 PCDHGB1 56104 ENSG00000254221 Pcdhgb1 (MGI:1935169) -chr5 141355020 141512974 5q31 5q31.3 606291 PCDHGA4 Protocadherin-gamma, subfamily A, member 4 PCDHGA4 56111 ENSG00000262576 Pcdhga4 (MGI:1935216) -chr5 141359993 141512974 5q31 5q31.3 606300 PCDHGB2 Protocadherin-gamma, subfamily B, member 2 PCDHGB2 56103 ENSG00000253910 Pcdhgb2 (MGI:1935170) -chr5 141364161 141512974 5q31 5q31.3 606292 PCDHGA5 Protocadherin-gamma, subfamily A, member 5 PCDHGA5 56110 ENSG00000253485 -chr5 141370241 141512974 5q31 5q31.3 606301 PCDHGB3 Protocadherin-gamma, subfamily B, member 3 PCDHGB3 56102 ENSG00000262209 -chr5 141373890 141512974 5q31 5q31.3 606293 PCDHGA6 Protocadherin-gamma, subfamily A, member 6 PCDHGA6 56109 ENSG00000253731 Pcdhga6 (MGI:1935218) -chr5 141382741 141512974 5q31 5q31.3 606294 PCDHGA7 Protocadherin-gamma, subfamily A, member 7 PCDHGA7 56108 ENSG00000253537 Pcdhga7 (MGI:1935219) -chr5 141387697 141512974 5q31 5q31.3 603058 PCDHGB4 Protocadherin-gamma, subfamily B, member 4 PCDHGB4 8641 ENSG00000253953 Pcdhgb4 (MGI:1935173) -chr5 141392632 141512974 5q31 5q31.3 606295 PCDHGA8 Protocadherin-gamma, subfamily A, member 8 PCDHGA8 9708 ENSG00000253767 -chr5 141397946 141512974 5q31 5q31.3 606302 PCDHGB5 Protocadherin-gamma, subfamily B, member 5 PCDHGB5 56101 ENSG00000276547 Pcdhgb5 (MGI:1935196) -chr5 141402777 141512974 5q31 5q31.3 606296 PCDHGA9 Protocadherin-gamma, subfamily A, member 9 PCDHGA9 56107 ENSG00000261934 Pcdhga9 (MGI:1935226) -chr5 141408020 141512974 5q31 5q31.3 606303 PCDHGB6 Protocadherin-gamma, subfamily B, member 6 PCDHGB6 56100 ENSG00000253305 -chr5 141412986 141512974 5q31 5q31.3 606297 PCDHGA10 Protocadherin-gamma, subfamily A, member 10 PCDHGA10 56106 ENSG00000253846 Pcdhga10 (MGI:1935227) -chr5 141417676 141512974 5q31 5q31.3 606304 PCDHGB7 Protocadherin-gamma, subfamily B, member 7 PCDHGB7 56099 ENSG00000254122 -chr5 141421050 141512974 5q31 5q31.3 606298 PCDHGA11 Protocadherin-gamma, subfamily A, member 11 PCDHGA11 56105 ENSG00000253873 Pcdhga11 (MGI:1935228) -chr5 141430506 141512974 5q31 5q31.3 603059 PCDHGA12 Protocadherin-gamma, subfamily A, member 12 PCDHGA12 26025 ENSG00000253159 Pcdhga12 (MGI:1935229) -chr5 141475965 141512974 5q31 5q31.3 603627 PCDHGC3 Protocadherin-gamma, subfamily C, member 3 PCDHGC3 5098 ENSG00000240184 Pcdhgc3 (MGI:1935201) -chr5 141485029 141512974 5q31 5q31.3 606305 PCDHGC4 Protocadherin-gamma, subfamily C, member 4 PCDHGC4 56098 ENSG00000242419 -chr5 141489080 141512974 5q31 5q31.3 606306 PCDHGC5 Protocadherin-gamma, subfamily C, member 5 PCDHGC5 56097 ENSG00000240764 Pcdhgc5 (MGI:1935205) -chr5 141515015 141619054 5q31 5q31.3 602121 DIAPH1, DFNA1, LFHL1, SCBMS Diaphanous-related formin 1 DIAPH1 1729 ENSG00000131504 Deafness, autosomal dominant 1, with or without thrombocytopenia, 124900 (3), Autosomal dominant; Seizures, cortical blindness, microcephaly syndrome, 616632 (3), Autosomal recessive Diaph1 (MGI:1194490) -chr5 141620880 141636848 5q31 5q31.3 605166 HDAC3 Histone deacetylase 3 HDAC3 8841 ENSG00000171720 Hdac3 (MGI:1343091) -chr5 141636960 141641076 5q31.3 5q31.3 611213 RELL2 Relt-like 2 RELL2 285613 ENSG00000164620 Rell2 (MGI:1918044) -chr5 141639301 141651442 5q31.3 5q31.3 617555 FCHSD1, NWK2 FCH and double SH3 domains protein 1 FCHSD1 89848 ENSG00000197948 Fchsd1 (MGI:2441771) -chr5 141653400 141682229 5q31.3 5q31.3 606647 ARAP3, CENTD3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 ARAP3 64411 ENSG00000120318 Arap3 (MGI:2147274) -chr5 141850392 141878409 5q32-q33 5q31.3 603626 PCDH1, PC42 Protocadherin 1 (cadherin-like 1) PCDH1 5097 ENSG00000156453 Pcdh1 (MGI:104692) -chr5 141923870 141952030 5q31.3 5q31.3 615741 DELE1, KIAA0141 DAP3 binding cell death enhancer 1 DELE1 9812 ENSG00000081791 Dele1 (MGI:1914089) -chr5 141943580 141958811 5q31 5q31.3 605622 PCDH12, VECAD2, DMJDS1 Protocadherin 12 (cadherin, vascular endothelial, 2) PCDH12 51294 ENSG00000113555 Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280 (3), Autosomal recessive Pcdh12 (MGI:1855700) -chr5 141966806 141990291 5q23.3-q31.1 5q31.3 605675 RNF14, ARA54 RING finger protein-14 RNF14 9604 ENSG00000013561 Rnf14 (MGI:1929668) -chr5 142000670 142013026 5q31 5q31.3 601798 GNPDA1, GNP1, GNPI, KIAA0060 Glucosamine 6-phosphate deaminase 1 GNPDA1 10007 ENSG00000113552 Gnpda1 (MGI:1347054) -chr5 142108778 142154439 5q31.3 5q31.3 612050 NDFIP1, N4WBP5 NEDD4 family-interacting protein 1 NDFIP1 80762 ENSG00000131507 Ndfip1 (MGI:1929601) -chr5 142310429 142325020 5q31.3 5q31.3 607984 SPRY4, HH17 SPRY domain containing 4 SPRY4 81848 ENSG00000187678 Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3), Autosomal dominant Spry4 (MGI:1345144) -chr5 142317619 142318321 5q31.3 5q31.3 617617 SPRY4IT1 SPRY4 intronic transcript 1 SPRY4-IT1 100642175 in intron 2 of SPRY4 -chr5 142592177 142698069 5q31 5q31.3 131220 FGF1, FGFA Fibroblast growth factor-1 (acidic) FGF1 2246 ENSG00000113578 Fgf1 (MGI:95515) -chr5 142770369 143229010 5q31 5q31.3 605370 ARHGAP26, GRAF RHO GTPase-activating protein 26 ARHGAP26 23092 ENSG00000145819 Leukemia, juvenile myelomonocytic, somatic, 607785 (3) Arhgap26 (MGI:1918552) -chr5 143277930 143435511 5q31 5q31.3 138040 NR3C1, GCR, GRL, GCRST Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) NR3C1 2908 ENSG00000113580 Glucocorticoid resistance, 615962 (3), Autosomal dominant Nr3c1 (MGI:95824) -chr5 143812160 143820715 5q32 5q31.3 609961 HLA-HB1 Minor histocompatibility antigen HB-1 HMHB1 57824 ENSG00000158497 -chr5 144158161 144170658 5q32 5q31.3 611483 YIPF5, SMAP5, YIP1A, MEDS2 Yip1 domain family, member 5 YIPF5 81555 ENSG00000145817 Microcephaly, epilepsy, and diabetes syndrome 2, 619278 (3), Autosomal recessive Yipf5 (MGI:1914430) -chr5 144170722 144485685 5q31.3 5q31.3 613423 KCTD16, KIAA1317 Potassium channel tetramerization domain-containing 16 KCTD16 57528 ENSG00000183775 Kctd16 (MGI:1914659) -chr5 145858520 145931672 5q32 5q32 615762 GRXCR2, DFNB101 Glutaredoxin, cysteine-rich, 2 GRXCR2 643226 ENSG00000204928 mutation identified in 1 DFNB101 family ?Deafness, autosomal recessive 101, 615837 (3), Autosomal recessive Grxcr2 (MGI:2685697) -chr5 145936569 146081772 5q32 5q32 613377 SH3RF2, HEPP1 SH3 domain-containing RING finger protein 2 SH3RF2 153769 ENSG00000156463 Sh3rf2 (MGI:2444628) -chr5 146113033 146182730 5q32 5q32 151350 LARS1, LARS, LFIS, ILFS1 Leucyl-tRNA synthetase 1 LARS1 51520 ENSG00000133706 mutation identified in 1 family ?Infantile liver failure syndrome 1, 615438 (3), Autosomal recessive Lars (MGI:1913808) -chr5 146338838 146341727 5q31 5q32 602460 POU4F3, BRN3C POU domain, class 4, transcription factor-3 POU4F3 5459 ENSG00000091010 Deafness, autosomal dominant 15, 602459 (3), Autosomal dominant Pou4f3 (MGI:102523) -chr5 146447329 146511960 5q31 5q32 605409 TCERG1, TAF2S, CA150 Transcription elongation regulator 1 (transcription factor CA150) TCERG1 10915 ENSG00000113649 Tcerg1 (MGI:1926421) -chr5 146513143 146516189 5q32 5q32 618487 GPR151, GALRL, GALR4 G protein -coupled receptor 151 GPR151 134391 ENSG00000173250 Gpr151 (MGI:2441887) -chr5 146580741 147081519 5q31-q33 5q32 604325 PPP2R2B Protein phosphatase 2, regulatory subunit B, beta PPP2R2B 5521 ENSG00000156475 Spinocerebellar ataxia 12, 604326 (3), Autosomal dominant Ppp2r2b (MGI:1920180) -chr5 147390807 147510067 5q32 5q32 601168 DPYSL3, ULIP, DRP3 Dihydropyrimidinase-like 3 DPYSL3 1809 ENSG00000113657 Dpysl3 (MGI:1349762) -chr5 147585437 147782795 5q32 5q32 611197 JAKMIP2, JAMIP2, NECC1, KIAA0555 Janus kinase and microtubule-interacting protein 2 JAKMIP2 9832 ENSG00000176049 Jakmip2 (MGI:1923467) -chr5 147824581 147839195 5q32 5q32 167790 SPINK1, PSTI, PCTT, TATI, TCP Serine protease inhibitor, Kazal type I (pancreatic secretory trypsin inhibitor) SPINK1 6690 ENSG00000164266 Tropical calcific pancreatitis, 608189 (3), Autosomal dominant, Autosomal recessive; Pancreatitis, hereditary, 167800 (3), Autosomal dominant; {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3), Autosomal dominant, Autosomal recessive Spink1 (MGI:106202) -chr5 147878710 147882190 5q31-q34 5q32 606531 SCGB3A2, UGRP1 Secretoglobin, family 3A, member 2 (uteroglobin-related protein 1) SCGB3A2 117156 ENSG00000164265 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant Scgb3a2 (MGI:2153470) -chr5 148063979 148137381 5q32 5q32 605010 SPINK5, LEKTI Serine protease inhibitor, Kazal type, 5 SPINK5 11005 ENSG00000133710 Netherton syndrome, 256500 (3), Autosomal recessive Spink5 (MGI:1919682) -chr5 148202777 148215136 5q32 5q32 615868 SPINK6 Serine peptidase inhibitor, KAZAL-type, 6 SPINK6 404203 ENSG00000178172 Spink6 (MGI:3648654) -chr5 148268793 148286254 5q32 5q32 615205 SPINK13 Serine protease inhibitor, Kazal-type, 13 SPINK13 153218 ENSG00000214510 Spink13 (MGI:3642511) -chr5 148312422 148315918 5q32 5q32 617288 SPINK7, ECRG2 Serine peptidase inhibitor, Kazal-type, 7 SPINK7 84651 ENSG00000145879 Spink7 (MGI:3644691) -chr5 148323218 148341973 5q33.1 5q32 613511 SPINK9, LEKTI2 Serine protease inhibitor, Kazal-type, 9 SPINK9 643394 ENSG00000204909 -chr5 148383956 148442835 5q33.1 5q32 608533 FBXO38, FBX38, MOKA, HMN2D F-box only protein 38 FBXO38 81545 ENSG00000145868 Neuronopathy, distal hereditary motor, type IID, 615575 (3), Autosomal dominant Fbxo38 (MGI:2444639) -chr5 148451031 148654526 5q31-q33 5q32 602164 HTR4 5-hydroxytryptamine (serotonin) receptor-4 HTR4 3360 ENSG00000164270 Htr4 (MGI:109246) -chr5 148826610 148828622 5q32-q34 5q32 109690 ADRB2 Adrenergic, beta-2-, receptor, surface ADRB2 154 ENSG00000169252 Beta-2-adrenoreceptor agonist, reduced response to (3); {Obesity, susceptibility to}, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive; {Asthma, nocturnal, susceptibility to}, 600807 (3), Autosomal dominant Adrb2 (MGI:87938) -chr5 148982149 149063061 5q32 5q32 608206 SH3TC2, KIAA1985, MNMN SH3 domain and tetratricopeptide repeat domain 2 SH3TC2 79628 ENSG00000169247 Charcot-Marie-Tooth disease, type 4C, 601596 (3), Autosomal recessive; Mononeuropathy of the median nerve, mild, 613353 (3), Autosomal dominant Sh3tc2 (MGI:2444417) -chr5 149141492 149260541 5q32 5q32 611305 ABLIM3, KIAA0843 Actin-binding LIM protein family, member 3 ABLIM3 22885 ENSG00000173210 Ablim3 (MGI:2442582) -chr5 149271858 149343636 5q33.1 5q32 614410 AFAP1L1 Actin filament-associated protein 1-like 1 AFAP1L1 134265 ENSG00000157510 Afap1l1 (MGI:2147199) -chr5 149345498 149354582 5q32 5q32 618545 GRPEL2 GrpE-like 2, mitochondrial GRPEL2 134266 ENSG00000164284 Grpel2 (MGI:1334416) -chr5 149374266 149404201 5q32-q34 5q32 604627 IL17B Interleukin 17B IL17B 27190 ENSG00000127743 Il17b (MGI:1928397) -chr5 149428917 149429022 5q33.1 5q32 612117 MIR143, MIRN143 Micro RNA 143 MIR143 406935 ENSG00000284182 Mir143 (MGI:2676828) -chr5 149430645 149430732 5q33.1 5q32 611795 MIR145, MIRN145 Micro RNA 145 MIR145 406937 ENSG00000276365 Mir145a (MGI:2676830) -chr5 149492981 149551438 5q32 5q32 600505 CSNK1A1 Casein kinase-1, alpha-1 polypeptide CSNK1A1 1452 ENSG00000113712 previously assigned to 13q13 Csnk1a1 (MGI:1934950) -chr5 149730301 149857860 5q33 5q32 608886 PPARGC1B, PGC1B, PERC Peroxisome proliferator-activated receptor-gamma, coactivator 1, beta PPARGC1B 133522 ENSG00000155846 Ppargc1b (MGI:2444934) -chr5 149732824 149732889 5q33.1 5q32 611957 MIR378, MIRN378 Micro RNA 378 MIR378A 494327 ENSG00000199047 Mir378a (MGI:3617791) -chr5 149857952 149944792 5q31.2-q34 5q32 180071 PDE6A, PDEA, RP43 Phosphodiesterase-6A, cGMP-specific, rod, alpha PDE6A 5145 ENSG00000132915 Retinitis pigmentosa 43, 613810 (3) Pde6a (MGI:97524) -chr5 149960757 149987399 5q32-q33.1 5q32 606718 SLC26A2, DTD, DTDST, D5S1708, EDM4 Solute carrier family 26 (sulfate transporter), member 2 (diastrophic dysplasia sulfate transporter) SLC26A2 1836 ENSG00000155850 distal to APC Epiphyseal dysplasia, multiple, 4, 226900 (3), Autosomal recessive; De la Chapelle dysplasia, 256050 (3), Autosomal recessive; Diastrophic dysplasia, 222600 (3), Autosomal recessive; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3), Autosomal recessive; Achondrogenesis Ib, 600972 (3), Autosomal recessive; Atelosteogenesis, type II, 256050 (3), Autosomal recessive Slc26a2 (MGI:892977) -chr5 150021530 150022049 5q33-qter 5q32 180464 RPS20B Ribosomal protein S20B RPS20P4 6226 ?pseudogene -chr5 150053294 150113364 5q32 5q32 164770 CSF1R, FMS, HDLS, BANDDOS Colony-stimulating factor-1 receptor; oncogene FMS (McDonough feline sarcoma) CSF1R 1436 ENSG00000182578 FMS2 is 5' end Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 (3), Autosomal recessive; Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3), Autosomal dominant Csf1r (MGI:1339758) -chr5 150113838 150155844 5q32 5q32 173410 PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS Platelet-derived growth factor receptor, beta polypeptide PDGFRB 5159 ENSG00000113721 fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders Premature aging syndrome, Penttinen type, 601812 (3), Autosomal dominant; Kosaki overgrowth syndrome, 616592 (3), Autosomal dominant; Myofibromatosis, infantile, 1, 228550 (3), Autosomal dominant; Basal ganglia calcification, idiopathic, 4, 615007 (3), Autosomal dominant; Myeloproliferative disorder with eosinophilia, 131440 (4), Autosomal dominant Pdgfrb (MGI:97531) -chr5 150166777 150184557 5q31-q33 5q32 600746 CDX1 Caudal type homeo box transcription factor 1 CDX1 1044 ENSG00000113722 100kb distal to CSF1R Cdx1 (MGI:88360) -chr5 150190061 150211071 5q31-q32 5q32 606205 SLC6A7, PROT Solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 SLC6A7 6534 ENSG00000011083 Slc6a7 (MGI:2147363) -chr5 150219490 150290129 5q32 5q32 114078 CAMK2A, KIAA0968, CAMKA, MRD53, MRT63 Calcium/calmodulin-dependent protein kinase II-alpha CAMK2A 815 ENSG00000070808 mutation identified in 1 MRT63 family Mental retardation, autosomal dominant 53, 617798 (3), Autosomal dominant; ?Mental retardation, autosomal recessive 63, 618095 (3), Autosomal recessive Camk2a (MGI:88256) -chr5 150296342 150302904 5q32 5q32 610009 ARSI Arylsulfatase I ARSI 340075 ENSG00000183876 Arsi (MGI:2670959) -chr5 150357696 150400305 5q32-q33.1 5q-q 606847 TCOF1, MFD1, TCS1 Treacle TCOF1 6949 ENSG00000070814 prox. to SPARC Treacher Collins syndrome 1, 154500 (3), Autosomal dominant Tcof1 (MGI:892003) -chr5 150400000 177100000 5q33.1-q35.2 613269 FECD5, FCD3 Corneal dystrophy, Fuchs endothelial, 5 100380874 flanked by D5S470 and D5S2108 Corneal dystrophy, Fuchs endothelial, 5, 613269 (2) -chr5 150401636 150412909 5q32 5q33.1 142790 CD74, DHLAG CD74 antigen (invariant polypeptide of major histocompatibility class II antigen-associated) CD74 972 ENSG00000019582 Cd74 (MGI:96534) -chr5 150442634 150449738 5q32 5q33.1 130620 RPS14, EMTB Ribosomal protein S14 RPS14 6208 ENSG00000164587 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3) Rps14 (MGI:98107) -chr5 150497778 150558210 5q32-q33.3 5q33.1 600853 NDST1, HSST, MRT46 N-deacetylase/N-sulfotransferase (heparan sulfate-N-deacetylase/N-sulfotransferase) NDST1 3340 ENSG00000070614 Mental retardation, autosomal recessive 46, 616116 (3), Autosomal recessive Ndst1 (MGI:104719) -chr5 150586025 150659213 5q33.1 5q33.1 608155 SYNPO Synaptopodin SYNPO 11346 ENSG00000171992 Synpo (MGI:1099446) -chr5 150660868 150679367 5q31 5q33.1 610735 MYOZ3, FRP3 Myozenin 3 MYOZ3 91977 ENSG00000164591 Myoz3 (MGI:2179296) -chr5 150690791 150701088 5q33.1 5q33.1 612430 RBM22 RNA-binding motif protein 22 RBM22 55696 ENSG00000086589 Rbm22 (MGI:1914060) -chr5 150708439 150759094 5q33.1 5q33.1 614758 DCTN4, P62, DYN4 Dynactin 4 DCTN4 51164 ENSG00000132912 Dctn4 (MGI:1914915) -chr5 150778756 150796733 5q32 5q33.1 608324 SMIM3, NID67 Small integral membrane protein 3 SMIM3 85027 ENSG00000256235 Smim3 (MGI:1917088) -chr5 150846520 150902401 5q33.1 5q33.1 608212 IRGM, LRG47, IFI1, IBD19 Immunity-related GTPase family, M IRGM 345611 ENSG00000237693 {Mycobacterium tuberculosis, protection against}, 607948 (3); {Inflammatory bowel disease (Crohn disease) 19}, 612278 (3) Irgm1,Igtp (MGI:107567,MGI:107729) -chr5 150892957 150904979 5q33.1 5q33.1 612429 ZNF300 Zinc finger protein 300 ZNF300 91975 ENSG00000145908 Zfp758,Zfp983,Zfp53,Zfp677 (MGI:99200,MGI:1920479,MGI:3053207,MGI:2385044) -chr5 151020590 151028987 5q32-q33.1 5q33.1 138321 GPX3 Glutathione peroxidase-3, plasma GPX3 2878 ENSG00000211445 Gpx3 (MGI:105102) -chr5 151029942 151087684 5q32-q33.1 5q33.1 607714 TNIP1, NAF1, KIAA0113 TNFAIP3-interacting protein 1 TNIP1 10318 ENSG00000145901 Tnip1 (MGI:1926194) -chr5 151100705 151157778 5q32-q34 5q33.1 114070 ANXA6, CBP68 Annexin A6 (calcium-binding protein p68) ANXA6 309 ENSG00000197043 Anxa6 (MGI:88255) -chr5 151181051 151224091 5q33.1 5q33.1 619288 CCDC69 Coiled-coil domain-containing protein 69 CCDC69 26112 ENSG00000198624 Ccdc69 (MGI:1196234) -chr5 151253184 151270439 5q31.3-q33.1 5q33.1 613109 GM2A GM2 ganglioside activator protein GM2A 2760 ENSG00000196743 pseudogene on chr.3 GM2-gangliosidosis, AB variant, 272750 (3), Autosomal recessive Gm2a (MGI:95762) -chr5 151314971 151347582 5q33.1 5q33.1 608331 SLC36A2, PAT2 Solute carrier family 36 (proton/amino acid symporter), member 2 SLC36A2 153201 ENSG00000186335 Iminoglycinuria, digenic, 242600 (3), Digenic recessive, Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant Slc36a2 (MGI:1891430) -chr5 151411343 151556317 5q31-q33 5q33.1 606561 SLC36A1, LYAAT1, PAT1 Solute carrier family 36 (proton/amino acid symporter), member 1 (lysosomal amino acid transporter 1) SLC36A1 206358 ENSG00000123643 Slc36a1 (MGI:2445299) -chr5 151504091 151594821 5q32-q33 5q33.1 604269 FAT2, MEGF1, SCA45 FAT atypical cadherin 2 FAT2 2196 ENSG00000086570 Spinocerebellar ataxia 45, 617769 (3), Autosomal dominant Fat2 (MGI:2685369) -chr5 151661095 151686914 5q31.3-q32 5q33.1 182120 SPARC, ON, OI17 Osteonectin (secreted protein, acidic, cysteine-rich) SPARC 6678 ENSG00000113140 Osteogenesis imperfecta, type XVII, 616507 (3), Autosomal recessive Sparc (MGI:98373) -chr5 151742821 151758630 5q32 5q33.1 602270 ATOX1, HAH1 Antioxidant protein 1 (ATX, yeast, homolog of) ATOX1 475 ENSG00000177556 Atox1 (MGI:1333855) -chr5 151771953 151812784 5q33.1 5q33.1 608431 G3BP1, G3BP GTPase-activating protein SH3 domain-binding protein 1 G3BP1 10146 ENSG00000145907 G3bp1 (MGI:1351465) -chr5 151822512 151924850 5q32 5q33.1 138491 GLRA1, STHE, HKPX1 Glycine receptor, alpha-1 polypeptide GLRA1 2741 ENSG00000145888 Hyperekplexia 1, 149400 (3), Autosomal dominant, Autosomal recessive Glra1 (MGI:95747) -chr5 152391545 152405278 5q33.1 5q33.1 605108 NMUR2, NMU2R, FM4 Neuromedin U receptor 2 NMUR2 56923 ENSG00000132911 Nmur2 (MGI:2441765) -chr5 153490669 153813872 5q33 5q33.2 138248 GRIA1, GLUR1 Glutamate receptor, ionotropic, AMPA 1 GRIA1 2890 ENSG00000155511 Gria1 (MGI:95808) -chr5 154038966 154057449 5q32-q33.3 5q33.2 600491 MFAP3 Microfibrillar-associated protein-3 MFAP3 4238 ENSG00000037749 Mfap3 (MGI:1924068) -chr5 154190732 154420983 5q33.2 5q33.2 608043 GALNT10, GalNAcT10 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 GALNT10 55568 ENSG00000164574 Galnt10 (MGI:1890480) -chr5 154445968 154461052 5q33.2 5q33.2 610398 SAP30L SAP30-like protein SAP30L 79685 ENSG00000164576 Sap30l (MGI:1354709) -chr5 154474971 154478226 5q33.2 5q33.2 602406 HAND1, EHAND Heart- and neural crest derivatives-expressed 1 HAND1 9421 ENSG00000113196 Hand1 (MGI:103577) -chr5 154682978 154817604 5q33.2 5q33.2 612059 LARP1, LARP, KIAA0731 La ribonucleoprotein 1, translational regulator LARP1 23367 ENSG00000155506 incorrectly mapped to chromosome 10 Larp1 (MGI:1890165) -chr5 154857951 154876791 5q31-q33 5q33.2 603731 CNOT8, CALIF, POP2 CCR4-NOT transcription complex, subunit 8 CNOT8 9337 ENSG00000155508 Cnot8 (MGI:1916375) -chr5 154887410 154938210 5q33.2 5q33.2 607005 GEMIN5, NEDCAM GEM-associated protein 5 GEMIN5 25929 ENSG00000082516 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, 619333 (3), Autosomal recessive Gemin5 (MGI:2449311) -chr5 154941072 154969410 5q33 5q33.2 611835 MRPL22 Mitochondrial ribosomal protein L22 MRPL22 29093 ENSG00000082515 Mrpl22 (MGI:1333794) -chr5 155013754 155018140 5q33.1 5q33.2 609184 KIF4B Kinesin family member 4B KIF4B 285643 ENSG00000226650 Kif4 (MGI:108389) -chr5 155728635 156767787 5q33 5q33.2-q33.3 601411 SGCD, SGD, LGMDR6, CMD1L Sarcoglycan, delta (35kD dystrophin-associated glycoprotein) SGCD 6444 ENSG00000170624 mutant in Syrian hamster cardiomyopathy Cardiomyopathy, dilated, 1L, 606685 (3); Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3), Autosomal recessive Sgcd (MGI:1346525) -chr5 156919291 156963225 5q33.2 5q33.3 610096 TIMED4, TIM4, SMUCKLER T-cell immunoglobulin and mucin domains-containing protein 4 TIMD4 91937 ENSG00000145850 Timd4 (MGI:2445125) -chr5 157028382 157069632 5q33.2 5q33.3 606518 HAVCR1, HAVCR Hepatitis A virus cellular receptor 1 HAVCR1 26762 ENSG00000113249 Timd2,Gm12169,BC053393,Havcr1 (MGI:3650838,MGI:3039605,MGI:2159680,MGI:2159681) -chr5 157085831 157109043 5q33.2 5q33.3 606652 HAVCR2, TIM3, SPTCL Hepatitis A virus cellular receptor 2 HAVCR2 84868 ENSG00000135077 T-cell lymphoma, subcutaneous panniculitis-like, 618398 (3), Autosomal recessive Havcr2 (MGI:2159682) -chr5 157137423 157142864 5q33.3 5q33.3 605045 MED7, CRSP9, CRSP33 Mediator complex subunit 7 MED7 9443 ENSG00000155868 Med7 (MGI:1913463) -chr5 157180839 157255184 5q32 5q33.3 186973 ITK, EMT, LPFS1 T-cell-specific tyrosine kinase; homolog of mouse T-cell itk/tsk tyrosine kinase ITK 3702 ENSG00000113263 Lymphoproliferative syndrome 1, 613011 (3), Autosomal recessive Itk (MGI:96621) -chr5 157266090 157395593 5q33.3 5q33.3 606323 CYFIP2, DEE65 Cytoplasmic FMRP interacting protein 2 CYFIP2 26999 ENSG00000055163 Developmental and epileptic encephalopathy 65, 618008 (3), Autosomal dominant Cyfip2 (MGI:1924134) -chr5 157460018 157474721 5q33 5q33.3 609383 NIPAL4, ICHYN, ARCI6 NIPA-like domain-containing 4 NIPAL4 348938 ENSG00000172548 Ichthyosis, congenital, autosomal recessive 6, 612281 (3), Autosomal recessive Nipal4 (MGI:2444671) -chr5 157477303 157575774 5q32-q33 5q33.3 603640 ADAM19, MLTNB ADAM metallopeptidase domain 19 ADAM19 8728 ENSG00000135074 Adam19 (MGI:105377) -chr5 157625678 157671479 5q33.3 5q33.3 606698 SOX30 SRY-box 30 SOX30 11063 ENSG00000039600 Sox30 (MGI:1341157) -chr5 157731419 157741448 5q33.3 5q33.3 618802 THG1L, THG1, ICF45, IHG1, SCAR28 tRNA-histidine guanylyltransferase 1-like protein THG1L 54974 ENSG00000113272 Spinocerebellar ataxia, autosomal recessive 28, 618800 (3), Autosomal recessive Thg1l (MGI:1913878) -chr5 157743711 157760708 5q33.3 5q33.3 617910 LSM11, AGS8 Lsm11, U7 small nuclear RNA-associated protein LSM11 134353 ENSG00000155858 mutation identified in 1 AGS8 family ?Aicardi-Goutieres syndrome 8, 619486 (3) Lsm11 (MGI:1919540) -chr5 157785746 157859144 5q33.3 5q33.3 607265 CLINT1, EPN4, EPNR, KIAA0171 Clathrin interactor 1 (epsin 4) CLINT1 9685 ENSG00000113282 Clint1 (MGI:2144243) -chr5 158695917 159099915 5q34 5q33.3 164343 EBF, OLF1 Early B-cell factor (olfactory neuronal transcription factor 1) EBF1 1879 ENSG00000164330 Ebf1 (MGI:95275) -chr5 159263289 159286035 5q33.3 5q33.3 609867 UBLCP1 Ubiquitin-like domain-containing CTD phosphatase 1 UBLCP1 134510 ENSG00000164332 Ublcp1 (MGI:1933105) -chr5 159314779 159330486 5q33.3 5q33.3 161561 IL12B, NKSF2, IMD29 Interleukin-12B (natural killer cell stimulatory factor-2, cytotoxic lymphocyte maturation factor-2, p40) IL12B 3593 ENSG00000113302 between GLR1 and GABRA1 Immunodeficiency 29, mycobacteriosis, 614890 (3), Autosomal recessive Il12b (MGI:96540) -chr5 159916481 159989204 5q33 5q33.3 104220 ADRA1B Adrenergic, alpha-1B-, receptor ADRA1B 147 ENSG00000170214 Adra1b (MGI:104774) -chr5 160009138 160065542 5q32-q33.2 5q33.3 601963 TTC1, TPR1 Tetratricopeptide repeat domain-1 TTC1 7265 ENSG00000113312 Ttc1 (MGI:1914077) -chr5 160043537 160120700 5q33.3 5q33.3 617823 PWWP2A PWWP domain-containing protein 2A PWWP2A 114825 ENSG00000170234 Pwwp2a (MGI:1918052) -chr5 160187380 160238721 5q23-q35 5q33.3 600422 FABP6, ILLBP Fatty acid-binding protein 6, ileal (gastrotropin) FABP6 2172 ENSG00000170231 Fabp6 (MGI:96565) -chr5 160347557 160370655 5q33.3 5q33.3 618647 C1QTNF2, CTRP2 C1q- and TNF-related protein 2 C1QTNF2 114898 ENSG00000145861 C1qtnf2 (MGI:1916433) -chr5 160393147 160400053 5q33.3 5q33.3 615253 ZBED8, C5orf54, BUSTER3 Zinc finger BED-type containing 8 ZBED8 63920 ENSG00000221886 Zbed5 (MGI:1919220) -chr5 160401640 160419080 5q33.3 5q33.3 605974 SLU7 SLU7 homolog, splicing factor SLU7 10569 ENSG00000164609 Slu7 (MGI:2385598) -chr5 160421854 160428743 5q33 5q33.3 604147 PTTG1, EAP1, TUTR1 PITG1 regulator of sister chromatid separation, securin PTTG1 9232 ENSG00000164611 Pttg1 (MGI:1353578) -chr5 160485351 160485449 5q33.3 5q33.3 610566 MIR146A, MIRN146A Micro RNA 146A MIR146A 406938 ENSG00000283733 Mir146 (MGI:2676831) -chr5 160500000 177100000 5q34-q35.2 608036 NIDDM4 Diabetes mellitus, noninsulin-dependent, 4 100188782 {Diabetes mellitus, noninsulin-dependent}, 125853 (2), Autosomal dominant -chr5 161288435 161548403 5q34-q35 5q34 600232 GABRB2, DEE92 Gamma-aminobutyric acid (GABA) A receptor, beta-2 GABRB2 2561 ENSG00000145864 Developmental and epileptic encephalopathy 92, 617829 (3), Autosomal dominant Gabrb2 (MGI:95620) -chr5 161685720 161702591 5q31.1-q35 5q34 137143 GABRA6 Gamma-aminobutyric acid (GABA) A receptor, alpha-6 GABRA6 2559 ENSG00000145863 Gabra6 (MGI:95618) -chr5 161847190 161899970 5q34-q35 5q34 137160 GABRA1, EJM5, ECA4, DEE19 Gamma-aminobutyric acid (GABA) A receptor, alpha-1 GABRA1 2554 ENSG00000022355 in same 200kb as GABRG2 {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3); Developmental and epileptic encephalopathy 19, 615744 (3), Autosomal dominant; {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3) Gabra1 (MGI:95613) -chr5 162067464 162155538 5q34 5q34 137164 GABRG2, DEE74, FEB8, ECA2, GEFSP3 Gamma-aminobutyric acid (GABA) A receptor, gamma-2 GABRG2 2566 ENSG00000113327 in alpha/beta/gamma cluster Developmental and epileptic encephalopathy 74, 618396 (3), Autosomal dominant; Epilepsy, generalized, with febrile seizures plus, type 3, 607681 (3), Autosomal dominant; Febrile seizures, familial, 8, 607681 (3), Autosomal dominant Gabrg2 (MGI:95623) -chr5 163437570 163448198 5q32-q34 5q34 601578 CCNG1 Cyclin G1 CCNG1 900 ENSG00000113328 Ccng1 (MGI:102890) -chr5 163460631 163491940 5q33.2 5q34 600936 HMMR Hyaluronan-mediated motility receptor (RHAMM) HMMR 3161 ENSG00000072571 {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant Hmmr (MGI:104667) -chr5 163503063 163519353 5q34 5q34 605527 MAT2B Methionine adenosyltransferase II, beta MAT2B 27430 ENSG00000038274 Mat2b (MGI:1913667) -chr5 166979065 168264158 5q34 5q34 610119 TENM2, ODZ2, TNM2, KIAA1127 Teneurin transmembrane protein 2 TENM2 57451 ENSG00000145934 Tenm2 (MGI:1345184) -chr5 168291644 168472302 5q34-q35.2 5q34 610533 WWC1, KIBRA, KIAA0869, MEMRYQTL WW, C2, and coiled-coil domain-containing 1 WWC1 23286 ENSG00000113645 [Memory, enhanced, QTL], 615602 (3) Wwc1 (MGI:2388637) -chr5 168486470 168519300 5q34 5q34 107820 RARS1, RARS, HLD9 Arginyl-tRNA synthetase 1 RARS1 5917 ENSG00000113643 Leukodystrophy, hypomyelinating, 9, 616140 (3), Autosomal recessive Rars (MGI:1914297) -chr5 168548494 168579367 5q35 5q34 606161 PANK3 Pantothenate kinase 3 PANK3 79646 ENSG00000120137 Pank3 (MGI:2387464) -chr5 168560895 168560972 5q34 5q34 613187 MIR103-1, MIRN103-1 Micro RNA 103-1 MIR103A1 406895 ENSG00000199035 Mir103-1 (MGI:3619058) -chr5 168661739 169301138 5q35 5q-q 603745 SLIT3, SLIL2, MEGF5 SLIT guidance ligand 3 SLIT3 6586 ENSG00000184347 Slit3 (MGI:1315202) -chr5 168768145 168768254 5q34 5q34 616771 MIR218-2 Micro RNA 218-2 MIR218-2 407001 ENSG00000207739 in intron of SLIT3 Mir218-2 (MGI:3618752) -chr5 169583660 169604777 5q35.1 5q35.1 616401 SPDL1, CCDC99, SPINDLY Spindly apparatus coiled-coil protein 1 SPDL1 54908 ENSG00000040275 Spdl1 (MGI:1917635) -chr5 169637246 170083381 5q35.1 5q35.1 603122 DOCK2, IMD40 Dedicator of cytokinesis 2 DOCK2 1794 ENSG00000134516 Immunodeficiency 40, 616433 (3), Autosomal recessive Dock2 (MGI:2149010) -chr5 170105896 170109736 5q34 5q35.1 601093 FOXI1, FKHL10, FREAC6 Forkhead box I1 FOXI1 2299 ENSG00000168269 some patients have digenic mutations with SLC26A4 Enlarged vestibular aqueduct, 600791 (3), Autosomal recessive Foxi1 (MGI:1096329) -chr5 170246232 170297776 5q33.1-qter 5q35.1 601603 LCP2, SLP76, IMD81 Lymphocyte cytosolic protein-2 (SH2 domain-containing leukocyte protein of 76kD) LCP2 3937 ENSG00000043462 mutation identified in 1 IMD81 patient ?Immunodeficiency 81, 619374 (3), Autosomal recessive Lcp2 (MGI:1321402) -chr5 170353054 170736631 5q35.1 5q35.1 604660 KCNIP1, KCHIP1 Potassium channel-interacting protein 1 KCNIP1 30820 ENSG00000182132 Kcnip1 (MGI:1917607) -chr5 170374670 170389366 5q34 5q35.1 603951 KCNMB1 Potassium large conductance calcium-activated channel, subfamily M, beta member 1 KCNMB1 3779 ENSG00000145936 {Hypertension, diastolic, resistance to}, 608622 (3), Autosomal dominant Kcnmb1 (MGI:1334203) -chr5 170782840 170814046 5q32-q33 5q35.1 602729 GABRP Gamma-aminobutyric acid receptor, pi GABRP 2568 ENSG00000094755 Gabrp (MGI:2387597) -chr5 170862017 171300014 5q34 5q35.1 606141 RANBP17 RAN-binding protein 17 RANBP17 64901 ENSG00000204764 Ranbp17 (MGI:1929706) -chr5 171309247 171312138 5q35.1 5q35.1 604640 TLX3, HOX11L2, RNX T-cell leukemia, homeobox 3 TLX3 30012 ENSG00000164438 activated in T-cell ALL Tlx3 (MGI:1351209) -chr5 171387115 171410899 5q35 5q35.1 164040 NPM1 Nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) NPM1 4869 ENSG00000181163 fused with RARA in APL Leukemia, acute myeloid, somatic, 601626 (3) Npm1 (MGI:106184) -chr5 171419646 171457625 5q34 5q35.1 603726 FGF18 Fibroblast growth factor-18 FGF18 8817 ENSG00000156427 Fgf18 (MGI:1277980) -chr5 171861548 172006637 5q35.1 5q35.1 605651 FBXW11, FBXW1B, BTRC2, BTRCP2, NEDJED F-box and WD40 domain protein 11 FBXW11 23291 ENSG00000072803 Neurodevelopmental, jaw, eye, and digital syndrome, 618914 (3), Autosomal dominant Fbxw11 (MGI:2144023) -chr5 172042073 172188223 5q35.1 5q35.1 603919 STK10, LOK Serine/threonine protein kinase-10 STK10 6793 ENSG00000072786 Stk10 (MGI:1099439) -chr5 172194171 172203453 5q35.1 5q35.1 618520 EFCAB9 EF-hand calcium-binding domain 9 EFCAB9 285588 ENSG00000214360 Efcab9 (MGI:1916556) -chr5 172209644 172283796 5q35 5q35.1 610174 UBTD2, DCUBP, MGC30022 Ubiquitin domain-containing protein 2 UBTD2 92181 ENSG00000168246 Ubtd2 (MGI:2444752) -chr5 172325180 172454524 5q35.1 5q35.1 613293 SH3PXD2B, TKS4, KIAA1295, FTHS SH3 and PX domains-containing protein 2B SH3PXD2B 285590 ENSG00000174705 Frank-ter Haar syndrome, 249420 (3), Autosomal recessive Sh3pxd2b (MGI:2442062) -chr5 172641262 172691539 5q31 5q35.1 615893 NEURL1B, NEUR2 Neuralized E3 ubiquitin protein ligase 1B NEURL1B 54492 ENSG00000214357 Neurl1b (MGI:3643092) -chr5 172768095 172771194 5q34 5q35.1 600714 DUSP1, CL100, PTPN10 Dual specificity phosphatase-1 DUSP1 1843 ENSG00000120129 Dusp1 (MGI:105120) -chr5 172834250 172952682 5q35.2 5q35.1 617946 ERGIC1, ERGIC32, KIAA1181, AMC2 Endoplasmic reticulum-golgi intermediate compartment protein 1 ERGIC1 57222 ENSG00000113719 mutation identified in 1 AMCN family ?Arthrogryposis multiplex congenita 2, neurogenic type, 208100 (3), Autosomal recessive Ergic1 (MGI:1914708) -chr5 172983770 173035444 5q35.1 5q35.1 603931 ATP6V0E1, ATP6H ATPase, H+ transporting, V0 subunit E1 ATP6V0E1 8992 ENSG00000113732 previously mapped to Chr.2 Atp6v0e (MGI:1328318) -chr5 173020725 173020928 5q35.1 5q35.1 611331 SNORA74B Small nucleolar RNA, H/ACA box, 74B SNORA74B 677841 ENSG00000212402 in intron 3 of ATP6V0E1 -chr5 173056348 173139283 5q35.1 5q35.1 617109 CREBRF, LRF, C5orf41 CREB3 recruitment factor CREBRF 153222 ENSG00000164463 Crebrf (MGI:1924378) -chr5 173144446 173164386 5q35.1 5q35.1 603291 BNIP1, NIP1 BCL2/adenovirus E1B 19kD protein-interacting protein 1 BNIP1 662 ENSG00000113734 Bnip1 (MGI:109328) -chr5 173232108 173235320 5q34 5q35.1 600584 NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2 NK2 homeobox-5 gene NKX2-5 1482 ENSG00000183072 near border with 5q35 Hypoplastic left heart syndrome 2, 614435 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Hypothyroidism, congenital nongoitrous, 5, 225250 (3), Autosomal dominant; Conotruncal heart malformations, variable, 217095 (3); Ventricular septal defect 3, 614432 (3), Autosomal dominant; Atrial septal defect 7, with or without AV conduction defects, 108900 (3), Autosomal dominant Nkx2-5 (MGI:97350) -chr5 173300000 177100000 5q35.2 612886 MENOQ4 Menopause, natural, age at, QTL4 100302519 associated with rs365132, rs7718874, rs402511, rs691141, rs2278493 {Menopause, natural, age at, QTL4}, 612886 (2) -chr5 173314722 173328413 5q35.1 5q35.2 603665 STC2, STCRP Stanniocalcin 2 STC2 8614 ENSG00000113739 Stc2 (MGI:1316731) -chr5 173607144 173617071 5q35.2 5q35.2 616745 BOD1, FAM44B Biorientation of chromosomes in cell division 1 BOD1 91272 ENSG00000145919 Bod1 (MGI:1916806) -chr5 173888327 173961979 5q21 5q35.2 610607 CPEB4, KIAA1673 Cytoplasmic polyadenylation element-binding protein 4 CPEB4 80315 ENSG00000113742 Cpeb4 (MGI:1914829) -chr5 174045705 174109178 5q35.2 5q35.2 616752 HMP19, NSG2 Hypothalamus golgi apparatus-expressed protein, 19kD NSG2 51617 ENSG00000170091 Nsg2 (MGI:1202070) -chr5 174724581 174730895 5q34-q35 5q35.2 123101 MSX2, CRS2, HOX8 msh homeobox 2 MSX2 4488 ENSG00000120149 Parietal foramina with cleidocranial dysplasia, 168550 (3), Autosomal dominant; Craniosynostosis 2, 604757 (3), Autosomal dominant; Parietal foramina 1, 168500 (3), Autosomal dominant Msx2 (MGI:97169) -chr5 175440035 175444181 5q35.1 5q35.2 126449 DRD1 Dopamine receptor D1 DRD1 1812 ENSG00000184845 same 300kb fragment as GRL Drd1 (MGI:99578) -chr5 175478559 175529741 5q35.2 5q35.2 615569 SFXN1 Sideroflexin 1 SFXN1 94081 ENSG00000164466 Sfxn1 (MGI:2137677) -chr5 175657761 175710755 5q35.2 5q35.2 142703 HRH2 Histamine receptor H2 HRH2 3274 ENSG00000113749 Hrh2 (MGI:108482) -chr5 175796532 175884020 5q35.2 5q35.2 605033 CPLX2, CPX2 Complexin 2 CPLX2 10814 ENSG00000145920 Cplx2 (MGI:104726) -chr5 175959530 176034904 5q35.2 5q35.2 606929 THOC3, TEX1 THO complex 3 (Tex1, yeast, homolog of) THOC3 84321 ENSG00000051596 Thoc3 (MGI:1920916) -chr5 176238370 176345990 5q35.2 5q35.2 618102 SIMC1, PLEIAD SUMO-interacting motifs-containing protein 1 SIMC1 375484 ENSG00000170085 Simc1 (MGI:2442599) -chr5 176383936 176388605 5q35.2 5q35.2 612861 NOP15, HSPC111 Nop16, S. cerevisiae, homolog of NOP16 51491 ENSG00000048162 Nop16 (MGI:107862) -chr5 176392454 176416568 5q35.2 5q35.2 118970 CLTB Clathrin, light polypeptide (Lcb) CLTB 1212 ENSG00000175416 previously mapped to chr. 4 Cltb (MGI:1921575) -chr5 176448327 176510073 5q35.2 5q35.2 616935 FAF2, ETEA, UBXD8, KIAA0887 Fas-associated factor family, member 2 FAF2 23197 ENSG00000113194 Faf2 (MGI:1923827) -chr5 176526703 176544205 5q35.2 5q35.2 619283 RNF44, KIAA1100 RING finger protein 44 RNF44 22838 ENSG00000146083 Rnf44 (MGI:2145310) -chr5 176595801 176610155 5q35.2 5q35.2 611239 GPRIN1, GRIN1, KIAA1893 G protein-regulated inducer of neurite outgrowth 1 GPRIN1 114787 ENSG00000169258 Gprin1 (MGI:1349455) -chr5 176620081 176630555 5q35 5q35.2 602569 SNCB Synuclein, beta SNCB 6620 ENSG00000074317 Dementia, Lewy body, 127750 (3), Autosomal dominant Sncb (MGI:1889011) -chr5 176810558 176880897 5q35.2 5q35.2 607869 UNC5A, UNC5H1 unc-5 netrin receptor A UNC5A 90249 ENSG00000113763 Unc5a (MGI:894682) -chr5 176880868 176899372 5q35.2 5q35.2 142570 HK3 Hexokinase-3, white cell HK3 3101 ENSG00000160883 Hk3 (MGI:2670962) -chr5 176905004 177022639 5q35 5q35.2 609433 UIMC1, RAP80 Ubiquitin interaction motif containing 1 UIMC1 51720 ENSG00000087206 Uimc1 (MGI:103185) -chr5 177022686 177081188 5q35.2 5q35.2 605308 ZNF346, JAZ Zinc finger protein 346 ZNF346 23567 ENSG00000113761 Zfp346 (MGI:1349417) -chr5 177086914 177098143 5q35.1-qter 5q35.2 134935 FGFR4 Fibroblast growth factor receptor-4 FGFR4 2264 ENSG00000160867 distal to DRD1 {Cancer progression/metastasis} (3) Fgfr4 (MGI:95525) -chr5 177100000 181538259 5q35 118840 CHR Chromate resistance (sulfate transport) -chr5 177131834 177300212 5q35 5q35.3 606681 NSD1, ARA267, STO, SOTOS1 Nuclear receptor binding SET domain protein 1 NSD1 64324 ENSG00000165671 fusion gene with NUP98 in AML Sotos syndrome 1, 117550 (3), Autosomal dominant Nsd1 (MGI:1276545) -chr5 177301197 177303718 5q35.3 5q35.3 612415 RAB24 Ras-associated protein 24 RAB24 53917 ENSG00000169228 Rab24 (MGI:105065) -chr5 177303798 177306948 5q35.3 5q35.3 605733 PRELID1, PRELI, PX19 PRELI domain-containing protein 1 PRELID1 27166 ENSG00000169230 Prelid1 (MGI:1913744) -chr5 177305498 177312751 5q35.3 5q35.3 609450 MXD3, MAD3 MAX dimerization protein 3 MXD3 83463 ENSG00000213347 Mxd3 (MGI:104987) -chr5 177331566 177351667 5q35.3 5q35.3 609551 LMAN2, VIP36, GP36B Lectin, mannose-binding, 2 LMAN2 10960 ENSG00000169223 Lman2 (MGI:1914140) -chr5 177357671 177372600 5q35.3 5q35.3 602513 RGS14 Regulator of G protein signaling 14 RGS14 10636 ENSG00000169220 Rgs14 (MGI:1859709) -chr5 177384433 177412020 5q35 5q35.3 182309 SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2 Solute carrier family 34 (sodium phosphate cotransporter), member 1 SLC34A1 6569 ENSG00000131183 mutation identified in 1 FRTS2 family ?Fanconi renotubular syndrome 2, 613388 (3), Autosomal recessive; Hypercalcemia, infantile, 2, 616963 (3), Autosomal recessive; Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3), Autosomal dominant Slc34a1 (MGI:1345284) -chr5 177400108 177400660 5q35.2 5q35.3 612812 PFN3 Profilin 3 PFN3 345456 ENSG00000196570 Pfn3 (MGI:2178800) -chr5 177402137 177409563 5q33-qter 5q35.3 610619 F12, HAF, HAE3 Coagulation factor XII (Hageman factor) F12 2161 ENSG00000131187 Angioedema, hereditary, 3, 610618 (3), Autosomal dominant; Factor XII deficiency, 234000 (3), Autosomal recessive F12 (MGI:1891012) -chr5 177426495 177442890 5q35 5q35.3 600869 GRK6, GPRK6 G protein-coupled receptor kinase 6 GRK6 2870 ENSG00000198055 Grk6 (MGI:1347078) -chr5 177445994 177456285 5q35.3 5q35.3 618306 PRR7 Proline-rich protein 7 PRR7 80758 ENSG00000131188 Prr7 (MGI:3487246) -chr5 177456609 177480367 5q35.3 5q35.3 126660 DBN1 Drebrin-1 DBN1 1627 ENSG00000113758 Dbn1 (MGI:1931838) -chr5 177483393 177497603 5q35.3 5q35.3 605903 PDLIM7, ENIGMA PDZ and LIM domain 7 (enigma) PDLIM7 9260 ENSG00000196923 Pdlim7 (MGI:1914649) -chr5 177501903 177511099 5q35.3 5q35.3 611435 DOK3, DOKL Docking protein 3 DOK3 79930 ENSG00000146094 Dok3 (MGI:1351490) -chr5 177511576 177516960 5q35.3 5q35.3 608170 DDX41, ABS, MPLPF DEAD-box helicase 41 DDX41 51428 ENSG00000183258 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3), Autosomal dominant Ddx41 (MGI:1920185) -chr5 177519787 177554562 5q35.3 5q35.3 615813 FAM193B, IRIZIO, KIAA1931 Family with sequence similarity 193, member B FAM193B 54540 ENSG00000146067 Fam193b (MGI:2385851) -chr5 177600101 177610329 5q35.2-q35.3 5q35.3 604327 B4GALT7, XGALT1, XGPT1, EDSSPD1 Beta-1,4-galactosyltransferase 7 B4GALT7 11285 ENSG00000027847 Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3), Autosomal recessive B4galt7 (MGI:2384987) -chr5 177992234 177996241 5q 5q35.3 601538 PROP1, CPHD2 Prophet of Pit1, paired-like homeodomain transcription factor PROP1 5626 ENSG00000175325 Pituitary hormone deficiency, combined, 2, 262600 (3), Autosomal recessive Prop1 (MGI:109330) -chr5 178113505 178127033 5q35.3 5q35.3 619140 N4BP3, KIAA0341 NEDD4-binding protein 3 N4BP3 23138 ENSG00000145911 N4bp3 (MGI:2442218) -chr5 178149462 178153884 5q35.3 5q35.3 606470 NOLA2, NHP2, DKCB2 Nucleolar protein family A, member 2 NHP2 55651 ENSG00000145912 Dyskeratosis congenita, autosomal recessive 2, 613987 (3), Autosomal recessive Nhp2 (MGI:1098547) -chr5 178184504 178187370 5q35.3 5q35.3 618629 GMCL2 Germ cell-less 2, spermatogenesis associated GMCL2 64396 ENSG00000244234 Gmcl1 (MGI:1345156) -chr5 178204532 178211162 5q35.3 5q35.3 602688 HNRNPAB, ABBP1 Heterogeneous nuclear ribonucleoprotein A/B HNRNPAB 3182 ENSG00000197451 Hnrnpab (MGI:1330294) -chr5 178207143 178232821 5q35.3 5q35.3 614683 PHYKPL, AGXT2L2, PHLU 5-phosphohydroxy-L-lysine phospho-lyase PHYKPL 85007 ENSG00000175309 mutation identified in 1 PHLU patient [?Phosphohydroxylysinuria], 615011 (3) Phykpl (MGI:1920197) -chr5 178237615 178590392 5q35 5q35.3 610043 COL23A1 Collagen, type XXIII, alpha-1 COL23A1 91522 ENSG00000050767 Col23a1 (MGI:2653243) -chr5 178602663 178627049 5q35 5q35.3 607969 CLK4 CDC-like kinase 4 CLK4 57396 ENSG00000113240 Clk4 (MGI:1098551) -chr5 178711511 178730658 5q35.3 5q35.3 602444 TCF17, KID1 Transcription factor-17 ZNF354A 6940 ENSG00000169131 Zfp354a (MGI:103172) -chr5 178978326 178995319 5q35 5q35.3 604096 GRM6, MGLUR6, CSNB1B Glutamate receptor, metabotropic, 6 GRM6 2916 ENSG00000113262 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3), Autosomal recessive Grm6 (MGI:1351343) -chr5 179110852 179345460 5q23 5q35.3 604539 ADAMTS2, NPI, EDSDERMS ADAM metallopeptidase with thrombospondin type 1 motif, 2 (procollagen I N-proteinase) ADAMTS2 9509 ENSG00000087116 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3), Autosomal recessive Adamts2 (MGI:1347356) -chr5 179550550 179610011 5q35.3 5q35.3 610327 RUFY1 RUN and FYVE domains-containing protein 1 RUFY1 80230 ENSG00000176783 Rufy1 (MGI:2429762) -chr5 179614177 179634783 5q35.3 5q35.3 601035 HNRPH1 Heterogeneous nuclear ribonucleoprotein H HNRNPH1 3187 ENSG00000169045 Hnrnph1 (MGI:1891925) -chr5 179678645 179731640 5q35 5q35.3 114217 CANX Calnexin CANX 821 ENSG00000127022 Canx (MGI:88261) -chr5 179732821 179777282 5q35 5q35.3 605424 MAML1 Mastermind, Drosophila, homolog of, 1 MAML1 9794 ENSG00000161021 Maml1 (MGI:1890504) -chr5 179793985 179796646 5q35 5q35.3 246530 LTC4S Leukotriene C4 synthase LTC4S 4056 ENSG00000213316 Leukotriene C4 synthase deficiency, 614037 (1), Autosomal recessive Ltc4s (MGI:107498) -chr5 179797596 179806976 5q35 5q35.3 604561 MGAT4B Alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B MGAT4B 11282 ENSG00000161013 Mgat4b (MGI:2143974) -chr5 179806392 179838077 5q35 5q35.3 601530 SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV Sequestosome 1 SQSTM1 8878 ENSG00000161011 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3), Autosomal dominant; Myopathy, distal, with rimmed vacuoles, 617158 (3), Autosomal dominant; Paget disease of bone 3, 167250 (3), Autosomal dominant Sqstm1 (MGI:107931) -chr5 179837275 179858816 5q35.3 5q35.3 617154 MRNIP, C5orf45 MRN complex-interacting protein MRNIP 51149 ENSG00000161010 Mrnip (MGI:1915317) -chr5 179862070 179907896 5q35.3 5q35.3 618039 TBC1D9B, KIAA0676 TBC domain family, member 9B TBC1D9B 23061 ENSG00000197226 Tbc1d9b (MGI:1924045) -chr5 179911650 180071758 5q35.3 5q35.3 619163 RNF130, GOLIATH, G1RP RING finger protein 130 RNF130 55819 ENSG00000113269 Rnf130 (MGI:1891717) -chr5 180233142 180292082 5q35 5q35.3 602896 MAPK9, PRKM9, JNK2 Mitogen-activated protein kinase 9 MAPK9 5601 ENSG00000050748 Mapk9 (MGI:1346862) -chr5 180300697 180353335 5q34-q35 5q35.3 603865 GFPT2, GFAT2 Glutamine: fructose-6-phosphate amidotransferase 2 GFPT2 9945 ENSG00000131459 Gfpt2 (MGI:1338883) -chr5 180494372 180578357 5q35.3 5q35.3 608951 CNOT6, CCR4, KIAA1194 CCR4-NOT transcription complex, subunit 6 CNOT6 57472 ENSG00000113300 Cnot6 (MGI:2144529) -chr5 180590104 180591498 5q35 5q35.3 606500 SCGB3A1, HIN1 Secretoglobin, family 3A, member 1 SCGB3A1 92304 ENSG00000161055 Scgb3a1 (MGI:1915912) -chr5 180601505 180650297 5q35.3 5q35.3 136352 FLT4, VEGFR3, PCL, LMPHM1, CHTD7 fms-related tyrosine kinase-4 (vascular endothelial growth factor receptor 3) FLT4 2324 ENSG00000037280 Hemangioma, capillary infantile, somatic, 602089 (3); Lymphatic malformation 1, 153100 (3), Autosomal dominant; Congenital heart defects, multiple types, 7, 618780 (3), Autosomal dominant Flt4 (MGI:95561) -chr5 180784779 180815615 5q35 5q35.3 160995 MGAT1, GLYT1 Mannosyl (alpha-1,3-)-glycoprotein beta-1,2, N-acetylglucosaminyltransferase MGAT1 4245 ENSG00000131446 Mgat1 (MGI:96973) -chr5 180829953 180831617 5q35.3 5q35.3 618615 HEIH, LINC00848 Hepatocellular carcinoma-upregulated EZH2-associated long noncoding RNA HEIH 100859930 ENSG00000278970 -chr5 180843579 180861275 5q35.3 5q35.3 610281 ZFP62 Zinc finger protein 62 ZFP62 643836 ENSG00000196670 Zfp62 (MGI:99662) -chr5 180899096 180952165 5q35.3 5q35.3 615606 BTNL8, BTN9.2 Butyrophilin-like protein 8 BTNL8 79908 ENSG00000113303 Btnl1,Btnl4,Btnl6 (MGI:1932027,MGI:1932038,MGI:1932036) -chr5 180988845 181006726 5q35 5q35.3 606192 BTNL3 Butyrophilin-like protein 3 BTNL3 10917 ENSG00000168903 Btnl1,Btnl4,Btnl6 (MGI:1932027,MGI:1932038,MGI:1932036) -chr5 181097069 181097141 5q35.3 5q35.3 612995 TRV-CAC1-2, TRNAV2, TRV2 tRNA valine (anticodon CAC) 1-2 TRV-CAC1-2 7240 -chr5 181188853 181188924 5q35.3 5q35.3 189912 TRP-TGG3-5, TRNAP3, TRP3 Transfer RNA-Pro (TGG) 3-5 TRP-TGG3-1 7219 -chr5 181191686 181191757 5q35.3 5q35.3 189913 TRT-TGT6-1, TRNAT1, TRT1 tRNA threonine (anticodon TGT) 6-1 TRT-TGT6-1 7236 -chr5 181193923 181218331 5q35.3 5q35.3 609315 TRIM7, GNIP Tripartite motif-containing protein 7 TRIM7 81786 ENSG00000146054 Trim7 (MGI:2137353) -chr5 181218269 181218341 5q35.3 5q35.3 189921 TRV-AAC1-4, TRNAV1, TRV1 tRNA valine (anticodon AAC) 1-4 TRV-AAC1-4 7239 -chr5 181221978 181222050 5q35.3 5q35.3 612996 TRK-CTT2-4, TRNAK2, TRK2 Transfer RNA lysine (CTT) 2-4 TRK-CTT2-3 790966 -chr5 181223264 181235807 5q35.3 5q35.3 610530 TRIM41 Tripartite motif-containing 41 TRIM41 90933 ENSG00000146063 Trim41 (MGI:2384814) -chr5 181236896 181243905 5q35.3 5q35.3 176981 GNB2L1, RACK1 Guanine nucleotide-binding protein, beta-2-like 1 RACK1 10399 ENSG00000204628 Rack1 (MGI:101849) -chr5 181249958 181261354 5q35.3 5q35.3 619265 TRIM52 Tripartite motif-containing protein 52 TRIM52 84851 ENSG00000183718 Trim52 (MGI:3045276) -chr5 181261211 181272306 5q35.3 5q35.3 619266 TRIM52AS1 TRIM52 antisense RNA 1, noncoding TRIM52-AS1 100507602 ENSG00000248275 -chr6 0 59800000 6p 122550 CSCI Corticosterone side-chain isomerase ?linked to MHC -chr6 0 13400000 6pter-p24 612582 DEL6pter, C6DELpter Chromosome 6pter-p24 deletion syndrome Chromosome 6pter-p24 deletion syndrome, 612582 (4), Isolated cases -chr6 0 25200000 6p25.3-p22.3 610294 INTLQ3 Intelligence quantitative trait locus 3 100462722 {Intelligence QTL3}, 610294 (2) -chr6 292458 351354 6p25.3 6p25.3 616778 DUSP22, LMWDSP2, MKPX, VHX, JKAP, JSP1 Dual-specificity phosphatase 22 DUSP22 56940 ENSG00000112679 Dusp22 (MGI:1915926) -chr6 391751 411442 6p25-p23 6p25.3 601900 IRF4, LSIRF, SHEP8 Interferon regulatory factor-4 IRF4 3662 ENSG00000137265 dysregulated in t(6;14) [Skin/hair/eye pigmentation, variation in, 8], 611724 (3) Irf4 (MGI:1096873) -chr6 485153 693140 6p25.3 6p25.3 615329 EXOC2, SEC5L1, SEC5, NEDFACH Exocyst complex component 2 EXOC2 55770 ENSG00000112685 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, 619306 (3), Autosomal recessive Exoc2 (MGI:1913732) -chr6 655938 657099 6p25.3-p25.1 6p25.3 609713 HUS1B Hydroxyurea-sensitive 1, S. pombe, homolog of, B HUS1B 135458 ENSG00000188996 Hus1b (MGI:2671003) -chr6 1312097 1314757 6p25 6p25.3 612788 FOXQ1, HFH1 Forkhead box Q1 FOXQ1 94234 ENSG00000164379 Foxq1 (MGI:1298228) -chr6 1389575 1395602 6p25.3 6p25.3 603250 FOXF2, FKHL6, FREAC2 Forkhead box F2 FOXF2 2295 ENSG00000137273 Foxf2 (MGI:1347479) -chr6 1605530 1607357 6p25 6p25.3 615976 FOXCUT, LINC01379 FOXC1 upstream transcript, noncoding FOXCUT 101927703 -chr6 1609914 1613896 6p25 6p25.3 601090 FOXC1, FKHL7, FREAC3, IRID1, RIEG3, ASGD3 Forkhead, Drosophila, homolog-like 7 FOXC1 2296 ENSG00000054598 Axenfeld-Rieger syndrome, type 3, 602482 (3), Autosomal dominant; Anterior segment dysgenesis 3, multiple subtypes, 601631 (3), Autosomal dominant Foxc1 (MGI:1347466) -chr6 1623805 2245604 6p25 6p25.3 602884 GMDS GDP-mannose 4,6-dehydratase GMDS 2762 ENSG00000112699 Gmds (MGI:1891112) -chr6 2765340 2786951 6p25.2 6p25.2 608196 WRNIP1, WHIP Werner helicase-interacting protein 1 WRNIP1 56897 ENSG00000124535 Wrnip1 (MGI:1926153) -chr6 2832331 2842011 6pter-p24 6p25.2 130135 ELANH2, EI Protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived SERPINB1 1992 ENSG00000021355 Serpinb1b,Serpinb1c,Serpinb1a (MGI:2445361,MGI:1913472,MGI:2445363) -chr6 2887269 2903317 6p25 6p25.2 601799 PI9, CAP3, SERPINB9 Protease inhibitor 9, ovalbumin type SERPINB9 5272 ENSG00000170542 Serpinb9b,Serpinb9c,Serpinb9,Serpinb9h,Serpinb9f,Serpinb9g,Serpinb9d,Serpinb9e (MGI:3709608,MGI:106603,MGI:894667,MGI:1919260,MGI:894671,MGI:894672,MGI:894668,MGI:894669) -chr6 2948158 2971792 6p25 6p25.2 173321 SERPINB6, PI6, PTI, SPI3, DFNB91 Protease inhibitor 6 (placental thrombin inhibitor) SERPINB6 5269 ENSG00000124570 mutation identified in 1 DFNB91 family ?Deafness, autosomal recessive 91, 613453 (3), Autosomal recessive Serpinb6e,Serpinb6c,Serpinb6d,Serpinb6a,Serpinb6b (MGI:2667783,MGI:894688,MGI:103123,MGI:2667778,MGI:2145481) -chr6 2999893 3019754 6p25 6p25.2 160998 NQO2, NMOR2 NAD(P)H dehydrogenase, quinone 2 (NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2) NQO2 4835 ENSG00000124588 {?Breast cancer susceptibility}, 114480 (1), Somatic mutation, Autosomal dominant Nqo2 (MGI:104513) -chr6 3063966 3115186 6p25.2 6p25.2 603453 RIPK1, RIP1, RIP, IMD57, AIEFL Receptor-interacting serine/threonine kinase 1 RIPK1 8737 ENSG00000137275 Immunodeficiency 57 with autoinflammation, 618108 (3), Autosomal recessive; Autoinflammation with episodic fever and lymphadenopathy, 618852 (3), Autosomal dominant Ripk1 (MGI:108212) -chr6 3118375 3153598 6p25 6p25.2 603156 BPHL Biphenyl hydrolase-like BPHL 670 ENSG00000137274 Parg,Bphl (MGI:1347094,MGI:1915271) -chr6 3153665 3157543 6p25.2 6p25.2 615101 TUBB2A, CDCBM5 Tubulin, beta-2A TUBB2A 7280 ENSG00000137267 Cortical dysplasia, complex, with other brain malformations 5, 615763 (3), Autosomal dominant Tubb2a (MGI:107861) -chr6 3224276 3227652 6p25.2 6p25.2 612850 TUBB2B, CDCBM7 Tubulin, beta-2B TUBB2B 347733 ENSG00000137285 TUBB2A is 70kb telomeric to TUBB2B Cortical dysplasia, complex, with other brain malformations 7, 610031 (3), Autosomal dominant Tubb2b (MGI:1920960) -chr6 3254324 3308223 6p25.2 6p25.2 617550 PSMG4, PAC4, C6orf86 Proteasome assembly chaperone 4 PSMG4 389362 ENSG00000180822 Psmg4 (MGI:1916916) -chr6 3268972 3457049 6p25.2 6p25.2 611697 SLC22A23, C6orf85 Solute carrier family 22, member 23 SLC22A23 63027 ENSG00000137266 Slc22a23 (MGI:1920352) -chr6 3831900 3851319 6p25.2 6p25.2 614686 FAM60B, X5L Family with sequence similarity 50, member B FAM50B 26240 ENSG00000145945 Fam50b (MGI:1351640) -chr6 4021299 4064982 6p25.2 6p25.2 602338 PRPF4B, PRP4 Pre-mRNA processing factor 4B PRPF4B 8899 ENSG00000112739 Prpf4b (MGI:109584) -chr6 4115705 4135574 6p25.2 6p25.2 608024 ECI2, PECI, DRS1 Enoyl-CoA delta isomerase 2 ECI2 10455 ENSG00000198721 Eci2,Eci3 (MGI:1346064,MGI:1916373) -chr6 4200000 7100000 6p25 612558 CLLS4 Leukemia, chronic lymphocytic susceptibility to, 4 100270643 associated with rs872071 {Leukemia, chronic lymphocytic susceptibility to, 4}, 612558 (2) -chr6 4200000 7100000 6p25 608545 LRSL Larsen-like syndrome 406214 Larsen-like syndrome, 608545 (2), Isolated cases -chr6 4706137 4955543 6p25.1 6p25.1 603778 CDYL Chromodomain protein on Y chromosome-like CDYL 9425 ENSG00000153046 Cdyl (MGI:1339956) -chr6 4992404 5004057 6p25.1 6p25.1 606117 RPP40 Ribonuclease P/MRP subunit p40 RPP40 10799 ENSG00000124787 Rpp40 (MGI:1346084) -chr6 5031028 5260949 6p25.1 6p25.1 613311 LYRM4, ISD11, C6orf149, COXPD19 LYR motif-containing protein 4 LYRM4 57128 ENSG00000214113 mutation identified in 1 family ?Combined oxidative phosphorylation deficiency 19, 615595 (3), Autosomal recessive Lyrm4 (MGI:2683538) -chr6 5261006 5771582 6p25.1 6p25.1 611592 FARS2, FARS1, COXPD14, SPG77 Phenylalanyl-tRNA synthetase 2, mitochondrial FARS2 10667 ENSG00000145982 Combined oxidative phosphorylation deficiency 14, 614946 (3), Autosomal recessive; Spastic paraplegia 77, autosomal recessive, 617046 (3), Autosomal recessive Fars2 (MGI:1917205) -chr6 5997998 6007517 6p25.1 6p25.1 607409 NRN1, NRN Neuritin 1 NRN1 51299 ENSG00000124785 Nrn1 (MGI:1915654) -chr6 6144083 6320661 6p25-p24 6p25.1 134570 F13A1, F13A Coagulation factor XIII, A polypeptide F13A1 2162 ENSG00000124491 Factor XIIIA deficiency, 613225 (3), Autosomal recessive; {Myocardial infarction, protection against}, 608446 (3); {Venous thrombosis, protection against}, 188050 (3), Autosomal dominant F13a1 (MGI:1921395) -chr6 6588638 6654981 6p25.1 6p25.1 605241 LY86, MD1 Lymphocyte antigen 86 LY86 9450 ENSG00000112799 Ly86 (MGI:1321404) -chr6 7100000 10600000 6p24.3 119530 OFC1, CL Orofacial cleft-1 (cleft lip with or without cleft palate; isolated cleft palate) 4963 probable heterogeneity Orofacial cleft-1, 119530 (2), Autosomal dominant -chr6 7107742 7251979 6p25 6p24.3 602209 RREB1 RAS-responsive element binding protein-1 RREB1 6239 ENSG00000124782 Rreb1 (MGI:2443664) -chr6 7281142 7313198 6p24.3 6p24.3 600868 SSR1 Signal sequence receptor, alpha SSR1 6745 ENSG00000124783 Ssr1 (MGI:105082) -chr6 7326658 7389741 6p25.3-p24.1 6p24.3 608304 CTAG3, CAGE1 Cancer/testis antigen 3 CAGE1 285782 ENSG00000164304 Cage1 (MGI:1918463) -chr6 7389807 7418036 6p24.3 6p24.3 617753 RIOK1, RIO1 RIO kinase 1 RIOK1 83732 ENSG00000124784 Riok1 (MGI:1918590) -chr6 7541670 7586713 6p24 6p24.3 125647 DSP, KPPS2, PPKS2, DCWHKTA Desmoplakin DSP 1832 ENSG00000096696 splice variants result in DP I and DP II Arrhythmogenic right ventricular dysplasia 8, 607450 (3), Autosomal dominant; Skin fragility-woolly hair syndrome, 607655 (3), Autosomal recessive; Epidermolysis bullosa, lethal acantholytic, 609638 (3), Autosomal recessive; Keratosis palmoplantaris striata II, 612908 (3), Autosomal dominant; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3), Autosomal dominant; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3), Autosomal recessive Dsp (MGI:109611) -chr6 7726098 7881727 6p24-p23 6p24.3 112266 BMP6 Bone morphogenetic protein-6 BMP6 654 ENSG00000153162 Bmp6 (MGI:88182) -chr6 7881516 7910787 6p25.2 6p24.3 616412 TXNDC5, ERP46, ENDOPDI, HCC2 Thioredoxin domain-containing protein 5 TXNDC5 81567 ENSG00000239264 Txndc5 (MGI:2145316) -chr6 8013566 8064413 6p24.3 6p24.3 607289 BLOC1S5, BLOS5, MUTED, HPS11 Biogenesis of lysosome-related organelles complex 1, subunit 5 BLOC1S5 63915 ENSG00000188428 Hermansky-Pudlak syndrome 11, 619172 (3), Autosomal recessive Bloc1s5 (MGI:2178598) -chr6 8073359 8102547 6p25.1-p23 6p24.3 609206 EEF1E1 Eukaryotic translation elongation factor 1, epsilon-1 EEF1E1 9521 ENSG00000124802 Eef1e1 (MGI:1913393) -chr6 8411434 8435566 6p24.3 6p24.3 610845 SLC35B3, PAPST2 Solute carrier family 25 (3'-phosphoadenosine 5'-phosphosulfate transporter), member B3 SLC35B3 51000 ENSG00000124786 Slc35b3 (MGI:1913978) -chr6 8652208 8653845 6p24.3 6p24.3 612210 HULC Highly upregulated in liver cancer HULC 728655 -chr6 9704977 10211607 6p24 6p24.3 614287 OFCC1, MRDS1 OFC1 candidate gene 1 OFCC1 266553 Ofcc1 (MGI:2658851) -chr6 10396676 10419896 6p24 6p24.3 107580 TFAP2A, AP2TF, BOFS Transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha) TFAP2A 7020 ENSG00000137203 Branchiooculofacial syndrome, 113620 (3), Autosomal dominant Tfap2a (MGI:104671) -chr6 10404501 10407926 6p24.3 6p24.3 617136 TFAP2AAS2, HIPSTR TFAP2A antisense RNA 2 TFAP2A-AS2 109729173 ENSG00000285278 overlaps TFAP2A -chr6 10521282 10629367 6p24-p23 6p24.3-p24.2 600429 GCNT2, Ii, CTRCT13 Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme GCNT2 2651 ENSG00000111846 previously assigned to 9q21 [Blood group, Ii], 110800 (3), Autosomal dominant; Adult i phenotype without cataract, 110800 (3), Autosomal dominant; Cataract 13 with adult i phenotype, 116700 (3), Autosomal recessive Gcnt2 (MGI:1100870) -chr6 10690864 10709781 6p24.2 6p24.2 607811 PAK1IP1, PIP1 PAK1-interacting protein PAK1IP1 55003 ENSG00000111845 Pak1ip1 (MGI:1915333) -chr6 10723069 10731126 6p24.3 6p24.2 615318 TMEM14C Transmembrane protein 14C TMEM14C 51522 ENSG00000111843 Tmem14c (MGI:1913404) -chr6 10762722 10838953 6p24.2 6p24.2 154235 MAK, RP62 Male germ cell-associated kinase MAK 4117 ENSG00000111837 Retinitis pigmentosa 62, 614181 (3), Autosomal recessive Mak (MGI:96913) -chr6 10873222 10882040 6p24.2 6p24.2 603716 GCM2, GCMB, HRPT4, FIH2 Glial cells missing transcription factor 2 GCM2 9247 ENSG00000124827 Hypoparathyroidism, familial isolated 2, 618883 (3), Autosomal dominant, Autosomal recessive; Hyperparathyroidism 4, 617343 (3), Autosomal dominant Gcm2 (MGI:1861438) -chr6 10887051 10974308 6p24.2 6p24.2 616799 SYCP2L, C6orf177 Synaptonemal complex protein 2-like SYCP2L 221711 ENSG00000153157 Sycp2l (MGI:2685114) -chr6 10980758 11044304 6p24.2 6p24.2 611814 ELOVL2, SSC2 Elongation of very long chain fatty acids-like 2 ELOVL2 54898 ENSG00000197977 Elovl2 (MGI:1858960) -chr6 11102488 11111724 6p24.1 6p24.2 610524 ERVFRD-1 Endogenous retrovirus group FRD, member 1 ERVFRD-1 405754 ENSG00000244476 Synb,Syna (MGI:2684898,MGI:3045308) -chr6 11183297 11382347 6p24.2 6p24.2 602265 NEDD9, HEF1, CASL Neural precursor cell expressed, developmentally downregulated 9 NEDD9 4739 ENSG00000111859 Nedd9 (MGI:97302) -chr6 11600000 25200000 6p24.1-p22.3 607017 DFNA21 Deafness, autosomal dominant 21 192644 previously mapped to 6p21.3 Deafness, autosomal dominant 21, 607017 (2), Autosomal dominant -chr6 11713522 11779627 6p24.1 6p24.1 614348 ADTRP, C6orf105 Androgen-dependent TFPI-regulating protein ADTRP 84830 ENSG00000111863 Adtrp (MGI:1924596) -chr6 12002095 12212033 6p24-p22.3 6p24.1 194540 HIVEP1, ZNF40 Human immunodeficiency virus type I enhancer-binding protein-1 HIVEP1 3096 ENSG00000095951 Hivep1 (MGI:96100) -chr6 12256462 12297193 6p24-p23 6p24.1 131240 EDN1, ARCND3, QME, HDLCQ7 Endothelin-1 EDN1 1906 ENSG00000078401 {High density lipoprotein cholesterol level QTL 7} (3); Question mark ears, isolated, 612798 (3), Autosomal dominant; Auriculocondylar syndrome 3, 615706 (3), Autosomal recessive Edn1 (MGI:95283) -chr6 12716634 13290461 6p24.1 6p24.1 608723 PHACTR1, KIAA1733, DEE70 Phosphatase and actin regulator 1 PHACTR1 221692 ENSG00000112137 Developmental and epileptic encephalopathy 70, 618298 (3), Autosomal dominant Phactr1 (MGI:2659021) -chr6 13304950 13328536 6p24.1 6p24.1 612655 TBC1D7, PIG51, TBC7, MGCPH TBC1 domain family, member 7 TBC1D7 51256 ENSG00000145979 Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3), Autosomal recessive Tbc1d7 (MGI:1914296) -chr6 13400000 15200000 6p23 611456 ETM3 Tremor, hereditary essential, 3 101027378 max lod at D6S1630 and D6S1605 Essential tremor, hereditary, 3, 611456 (2) -chr6 13400000 46200000 6p23-p21 271250 SCAR3, SCABD Spinocerebellar ataxia, autosomal recessive 3 85502 Spinocerebellar ataxia, autosomal recessive 3, 271250 (2), Autosomal recessive -chr6 13400000 15200000 6p23 600511 SCZD3 Schizophrenia susceptibility locus, chromosome 6-related 6365 ?same as DTNBP1; cognitive deficit type {Schizophrenia}, 181500 (2), Autosomal dominant -chr6 13574216 13615157 6p23 6p23 604483 SIRT5 Sirtuin, S. cerevisiae, homolog 5 SIRT5 23408 ENSG00000124523 Sirt5 (MGI:1915596) -chr6 13615334 13632469 6p23 6p23 611533 NOL7 Nucleolar protein 7 NOL7 51406 ENSG00000225921 Nol7 (MGI:1917328) -chr6 13621497 13711834 6p23 6p23 603854 RANBP9, RANBPM RAN-binding protein 9 RANBP9 10048 ENSG00000010017 Ranbp9 (MGI:1928741) -chr6 13786556 13814993 6p23 6p23 616952 MCUR1, CCDC90A, FMP32 Mitochondrial calcium uniporter regulator 1 MCUR1 63933 ENSG00000050393 Mcur1 (MGI:1923387) -chr6 14117255 14136917 6p23 6p23 604534 CD83, HB15, BL11 CD83 antigen CD83 9308 ENSG00000112149 Cd83 (MGI:1328316) -chr6 15200000 25200000 6p22.3 615192 BWQTL4 Birth weight quantitative trait locus 4 101448071 associated with rs7756992 [Birth weight QTL4], 615192 (2) -chr6 15200000 25200000 6p22.3 613290 CIHL Hearing loss, cisplatin-induced, susceptibility to 100381207 associated with rs12201199 {?Hearing loss, cisplatin-induced, susceptibility to}, 613290 (2) -chr6 15200000 27100000 6p22.3-p22.2 603209 CMAHP, CMAH Cytidine monophospho-N-acetylneuraminic acid hydroxylase pseudogene CMAHP 8418 ENSG00000168405 mutation inactivates gene in humans -chr6 15200000 36600000 6p22.3-p21.3 608244 OTSC3 Otosclerosis 3 170532 Otosclerosis 3, 608244 (2), Autosomal dominant -chr6 15200000 46200000 6p22.3-p21.1 601431 TRA-TGC7-1, TRNAA1 tRNA alanine (anticodon TGC) 7-1 TRA-TGC7-1 7154 -chr6 15245974 15522041 6p24-p23 6p22.3 601594 JMJ Jumonji JARID2 3720 ENSG00000008083 Jarid2 (MGI:104813) -chr6 15522802 15663057 6p22.3 6p22.3 607145 DTNBP1, HPS7 Dystrobrevin-binding protein 1 (dysbindin) DTNBP1 84062 ENSG00000047579 Hermansky-Pudlak syndrome 7, 614076 (3), Autosomal recessive Dtnbp1 (MGI:2137586) -chr6 16129085 16151014 6p23-p22.3 6p22.3 610082 MYLIP, MIR Myosin regulatory light chain-interacting protein MYLIP 29116 ENSG00000007944 Mylip (MGI:2388271) -chr6 16238586 16295548 6p23 6p22.3 139265 GMPR, GMPR1 Guanosine monophosphate reductase GMPR 2766 ENSG00000137198 Gmpr (MGI:1913605) -chr6 16299111 16761489 6p23 6p22.3 601556 ATXN1, ATX1, SCA1 Ataxin-1 ATXN1 6310 ENSG00000124788 Spinocerebellar ataxia 1, 164400 (3), Autosomal dominant Atxn1 (MGI:104783) -chr6 17281360 17293874 6p22.3 6p22.3 617603 RBM24, RNPC6 RNA-binding motif protein 24 RBM24 221662 ENSG00000112183 Rbm24 (MGI:3610364) -chr6 17393594 17557779 6p22.3 6p22.3 618385 CAP2 Cyclase-associated actin cytoskeleton regulatory protein 2 CAP2 10486 ENSG00000112186 Cap2 (MGI:1914502) -chr6 17600301 17611714 6p23 6p22.3 618409 FAM8A1 Family with sequence similarity 8, member A1 FAM8A1 51439 ENSG00000137414 Fam8a1 (MGI:2145496) -chr6 17615035 17706924 6p22.3 6p22.3 603948 NUP153 Nucleoporin, 153kD NUP153 9972 ENSG00000124789 Nup153 (MGI:2385621) -chr6 17759125 17987634 6p22.3 6p22.3 605433 KIF13A Kinesin family member 13A KIF13A 63971 ENSG00000137177 Kif13a (MGI:1098264) -chr6 18120439 18122676 6p22.3 6p22.3 608072 NHLRC1, EPM2A, EPM2B NHL repeat-containing 1 gene (malin) NHLRC1 378884 ENSG00000187566 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3), Autosomal recessive Nhlrc1 (MGI:2145264) -chr6 18128310 18155168 6p22.3 6p22.3 187680 TPMT, TPMTD Thiopurine S-methyltransferase TPMT 7172 ENSG00000137364 {Thiopurines, poor metabolism of, 1}, 610460 (3), Autosomal recessive Tpmt (MGI:98812) -chr6 18155387 18223853 6p22.3 6p22.3 613081 KDM1B, LSD2, AOF1 Lysine demethylase 1B KDM1B 221656 ENSG00000165097 Kdm1b (MGI:2145261) -chr6 18223859 18264540 6p23 6p22.3 125264 DEK, D6S231E DEK oncogene DEK 7913 ENSG00000124795 fused with CAN in t(6;9) Leukemia, acute nonlymphocytic, 125264 (2) Dek (MGI:1926209) -chr6 18387328 18468869 6p22.3 6p22.3 618869 RNF144B RING finger protein 144B RNF144B 255488 ENSG00000137393 Rnf144b (MGI:2384986) -chr6 19837369 19842196 6p22-p21.3 6p22.3 600581 ID4 Inhibitor of DNA binding 4, dominant negative helix-loop-helix protein ID4 3400 ENSG00000172201 Id4 (MGI:99414) -chr6 20099683 20212468 6p23 6p22.3 611732 MBOAT1 Membrane-bound O-acetyltransferase domain-containing 1 MBOAT1 154141 ENSG00000172197 Mboat1 (MGI:2387184) -chr6 20401878 20493713 6p22 6p22.3 600427 E2F3 E2F transcription factor 3 E2F3 1871 ENSG00000112242 E2f3 (MGI:1096340) -chr6 20534456 21232403 6p22.3 6p22.3 611259 CDKAL1 CDK5 regulatory subunit-associated protein 1-like 1 CDKAL1 54901 ENSG00000145996 Cdkal1 (MGI:1921765) -chr6 21593750 21598618 6p22.3 6p22.3 184430 SOX4, CSS10 SRY (sex determining region Y)-box 4 SOX4 6659 ENSG00000124766 Coffin-Siris syndrome 10, 618506 (3), Autosomal dominant Sox4 (MGI:98366) -chr6 21666412 22195819 6p22.3 6p22.3 616610 CASC15, LINC00340 Cancer susceptibility candidate 15, noncoding CASC15 401237 -chr6 22134601 22147192 6p22 6p22.3 616206 NBAT1 Neuroblastoma-associated transcript 1, noncoding NBAT1 729177 -chr6 22287245 22302896 6p22.2-p21.3 6p22.3 176760 PRL Prolactin PRL 5617 ENSG00000172179 ?between 6cen and GLO1 Prl6a1,Prl7b1,Prl7a1,Prl7a2,Prl8a1,Prl8a2,Prl2a1,Prl3b1,Prl3d3,Prl3a1,Prl2c5,Prl4a1,Prl7d1,Prl7c1,Prl5a1,Prl2c1,Prl,Prl2b1,Prl2c2,Prl3c1,Prl3d2,Prl8a8,Prl8a9,Prl8a6 (MGI:3649927,MGI:1920494,MGI:1861444,MGI:1914250,MGI:1332225,MGI:1861446,MGI:2660938,MGI:1914560,MGI:106332,MGI:1206571,MGI:2660935,MGI:97762,MGI:1206572,MGI:97619,MGI:1914755,MGI:97618,MGI:97607,MGI:1206587,MGI:1858413,MGI:1206579,MGI:1351649,MGI:1922846,MGI:1921438,MGI:894281) -chr6 24126214 24147529 6p22 6p22.3 616630 NRSN1, VMP Neurensin 1 NRSN1 140767 ENSG00000152954 Nrsn1 (MGI:894662) -chr6 24171754 24383291 6p22.1 6p22.3 605755 DCDC2, RU2, KIAA1154, NPHP19, DFNB66, NSC Doublecortin domain-containing protein 2 DCDC2 51473 ENSG00000146038 mutation identified in 1 DFNB66 family Nephronophthisis 19, 616217 (3), Autosomal recessive; ?Deafness, autosomal recessive 66, 610212 (3), Autosomal recessive; Sclerosing cholangitis, neonatal, 617394 (3), Autosomal recessive Dcdc2a (MGI:2652818) -chr6 24356902 24358284 6p22.1 6p22.3 608211 KAAG1, RU2AS Kidney-associated antigen 1 KAAG1 353219 ENSG00000146049 -chr6 24402935 24426189 6p22.3 6p22.3 619307 MRS2 Magnesium transporter MRS2 MRS2 57380 ENSG00000124532 Mrs2 (MGI:2685748) -chr6 24423968 24495231 6p22.1 6p22.3 602515 GPLD1, PIGPLD, GPIPLD Phospholipase D1, glycosylphosphatidylinositol-specific GPLD1 2822 ENSG00000112293 Gpld1 (MGI:106604) -chr6 24494968 24537206 6p22 6p22.3 610045 ALDH5A1, SSADH Succinic semialdehyde dehydrogenase ALDH5A1 7915 ENSG00000112294 Succinic semialdehyde dehydrogenase deficiency, 271980 (3), Autosomal recessive Aldh5a1 (MGI:2441982) -chr6 24540127 24646190 6p22.2 6p22.3 609269 KIAA0319 KIAA0319 gene KIAA0319 9856 ENSG00000137261 D130043K22Rik (MGI:3036268) -chr6 24649978 24666898 6p22.3-p22.1 6p22.3 605764 TDP2, TTRAP Tyrosyl-DNA phosphodiesterase 2 TDP2 51567 ENSG00000111802 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3), Autosomal recessive Tdp2 (MGI:1860486) -chr6 24667076 24705045 6p22.3 6p22.3 615652 ACOT13, THEM2 Acyl-CoA thioesterase 13 ACOT13 55856 ENSG00000112304 Acot13 (MGI:1914084) -chr6 24774936 24786098 6p22.3 6p22.3 602842 GMNN, MGORS6 Geminin DNA replication inhibitor GMNN 51053 ENSG00000112312 Meier-Gorlin syndrome 6, 616835 (3), Autosomal dominant Gmnn (MGI:1927344) -chr6 24804283 25042287 6p22.3-p21.32 6p22.3 611410 RIPOR2, FAM65B, C6orf32, KIAA0386, PL48, DFNB104 RHO family interacting cell polarization regulator 2 RIPOR2 9750 ENSG00000111913 mutation identified in 1 DFNB104 family ?Deafness, autosomal recessive 104, 616515 (3), Autosomal recessive Ripor2 (MGI:2444879) -chr6 25279373 25620529 6p22.2 6p22.2 609593 CARMIL1, LRRC16A, LRRC16 Capping protein regulator and myosin 1 linker 1 CARMIL1 55604 ENSG00000079691 Carmil1 (MGI:1915982) -chr6 25652214 25701782 6p22.2 6p22.2 609202 SCGN Secretagogin SCGN 10590 ENSG00000079689 Scgn (MGI:2384873) -chr6 25723742 25832107 6p23-p21.3 6p22.2 182308 SLC17A1, NPT1 Solute carrier family 17, sodium phosphate, member-1 (Sodium phosphate transport 1, kidney) SLC17A1 6568 ENSG00000124568 Slc17a1 (MGI:103209) -chr6 25726062 25726561 6p22.2 6p22.2 613499 HISTH2AA, H2AFR, H2AA Histone gene cluster 1, H2A histone family, member A H2AC1 221613 ENSG00000164508 H2ac1 (MGI:2448285) -chr6 25726776 25727344 6p22.2 6p22.2 609904 HIST1H2BA, TSH2B Histone 1, H2BA H2BC1 255626 ENSG00000146047 H2bc1 (MGI:2448375) -chr6 25754672 25781198 6p22-p21.3 6p22.2 604216 SLC17A4 Solute carrier family 17 (sodium phosphate), member 4 SLC17A4 10050 ENSG00000146039 Slc17a4 (MGI:2442850) -chr6 25844855 25874242 6p21.3 6p22.2 611034 SLC17A3, NPT4, UAQTL4, GOUT4 Solute carrier family 17 (sodium phosphate cotransporter), member 3 SLC17A3 10786 ENSG00000124564 [Uric acid concentration, serum, QTL4], 612671 (3), Autosomal dominant; {Gout susceptibility 4}, 612671 (3), Autosomal dominant Slc17a3 (MGI:2389216) -chr6 25912753 25930726 6p21.3 6p22.2 611049 SLC17A2, NPT3 Solute carrier family 17 (sodium phosphate cotransporter), member 2 SLC17A2 10246 ENSG00000112337 Slc17a2 (MGI:2443098) -chr6 26017031 26017786 6p21.3 6p22.2 142709 HIST1H1A, H1F1 Histone 1, H1a H1-1 3024 ENSG00000124610 H1f1 (MGI:1931523) -chr6 26020450 26020957 6p21.3 6p22.2 602810 HIST1H3A, H3FA Histone 1, H3a H3C1 8350 ENSG00000275714 -chr6 26021648 26022049 6p21.3 6p22.2 602822 HIST1H4A, H4FA Histone 1, H4a H4C1 8359 ENSG00000278637 -chr6 26026895 26027282 6p21.3 6p22.2 602829 HIST1H4B, H4FI Histone 1, H4b H4C2 8366 ENSG00000278705 -chr6 26031588 26032098 6p21.3 6p22.2 602819 HIST1H3B, H3FL Histone 1, H3fl H3C2 8358 ENSG00000286522 in major cluster on 6p -chr6 26033091 26033617 6p21.3 6p22.2 602795 HIST1H2AB, H2AFM Histone 1, H2ab H2AC4 8335 ENSG00000278463 H2ac10,H2ac6,H2ac7,H2ac13,H2ac12,H2ac22,H2ac15 (MGI:2448309,MGI:2448297,MGI:2448295,MGI:2448289,MGI:2448300,MGI:2448287,MGI:2448457) -chr6 26043226 26043712 6p21.3 6p22.2 602803 HIST1H2BB, H2BFF Histone 1, H2bb H2BC3 3018 ENSG00000276410 H2bc3 (MGI:2448377) -chr6 26045383 26045868 6p21.3 6p22.2 602812 HIST1H3C, H3FC Histone 1, H3c H3C3 8352 ENSG00000287080 -chr6 26055739 26056469 6p21.3 6p22.2 142710 HIST1H1C, H1F2 Histone 1, H1c H1-2 3006 ENSG00000187837 H1f2 (MGI:1931526) -chr6 26087346 26098342 6p21.3 6p22.2 613609 HFE, HLA-H, HFE1, MVCD7, TFQTL2 Homeostatic iron regulator HFE 3077 ENSG00000010704 {Porphyria variegata, susceptibility to}, 176200 (3), Autosomal dominant; {Microvascular complications of diabetes 7}, 612635 (3); Hemochromatosis, 235200 (3), Autosomal recessive; {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; [Transferrin serum level QTL2], 614193 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3), Autosomal dominant, Autosomal recessive Hfe (MGI:109191) -chr6 26103932 26104336 6p21.3 6p22.2 602827 HIST1H4C, H4FG Histone 1, H4c H4C3 8364 ENSG00000197061 -chr6 26107411 26108134 6p21.3 6p22.2 142712 HIST1H1T, H1FT Histone 1, H1t H1-6 3010 ENSG00000187475 H1f6 (MGI:1888530) -chr6 26113169 26123925 6p21.3 6p22.2 602847 HIST1H2BC, H2BFL Histone 1, H2bc H2BC4 8347 ENSG00000180596 -chr6 26124171 26124689 6p21.3 6p22.2 602794 HIST1H2AC, H2AFL Histone 1, H2ac H2AC6 8334 ENSG00000180573 H2aj (MGI:3606192) -chr6 26156328 26157114 6p21.3 6p22.2 142220 HIST1H1E, H1F4, RMNS Histone 1, H1e H1-4 3008 ENSG00000168298 Rahman syndrome, 617537 (3), Autosomal dominant H1f4 (MGI:1931527) -chr6 26158007 26171348 6p21.3 6p22.2 602799 HIST1H2BD, H2BFB Histone 1, H2bd H2BC5 3017 ENSG00000158373 H2bc8,H2bc14 (MGI:2448386,MGI:2448404) -chr6 26183760 26184229 6p21.3 6p22.2 602805 HIST1H2BE, H2BFH Histone 1, H2be H2BC6 8344 ENSG00000274290 -chr6 26188709 26189111 6p21.3 6p22.2 602823 HIST1H4D, H4FB Histone 1, H4d H4C4 8360 ENSG00000277157 -chr6 26196783 26199292 6p21.3 6p22.2 602811 HIST1H3D, H3FB Histone 1, H3d H3C4 8351 ENSG00000197409 H3c8 (MGI:2145541) -chr6 26198783 26199292 6p21.3 6p22.2 602792 HIST1H2AD, H2AFG Histone 1, H2ad H2AC7 3013 ENSG00000196866 -chr6 26199515 26199987 6p21.3 6p22.2 602804 HIST1H2BF, H2BFG Histone 1, H2bf H2BC7 8343 ENSG00000277224 -chr6 26204609 26205020 6p21.3 6p22.2 602830 HIST1H4E, H4FJ Histone 1, H4e H4C5 8367 ENSG00000276966 -chr6 26216199 26216687 6p21.3 6p22.2 602798 HIST1H2BG, H2BFA Histone 1, H2bg H2BC8 8339 ENSG00000273802 -chr6 26216920 26217482 6p21.3 6p22.2 602786 HIST1H2AE, H2AFA Histone 1, H2ae H2AC8 3012 ENSG00000277075 -chr6 26224177 26227472 6p21.3 6p22.2 602813 HIST1H3E, H3FD, H3.1 Histone 1, H3e H3C6 8353 ENSG00000274750 in cluster of 35 histone genes -chr6 26234211 26234986 6p21.3 6p22.2 142210 HIST1H1D, H1F3 Histone 1, H1d H1-3 3007 ENSG00000124575 H1f3 (MGI:107502) -chr6 26240392 26240792 6p21.3 6p22.2 602824 HIST1H4F, H4FC Histone 1, H4f H4C6 8361 ENSG00000274618 -chr6 26246610 26246995 6p21.3 6p22.2 602832 HIST1H4G, H4FL Histone 1, H4g H4C7 8369 ENSG00000275663 -chr6 26250141 26250634 6p21.3 6p22.2 602816 HIST1H3F Histone 1, H3f H3C7 8968 ENSG00000277775 H3c1 (MGI:2668828) -chr6 26251613 26252074 6p21.3 6p22.2 602806 HIST1H2BH, H2BFJ Histone 1, H2bh H2BC9 8345 ENSG00000275713 H2bc9 (MGI:2448387) -chr6 26270917 26271412 6p21.3 6p22.2 602815 HIST1H3G, H3FH Histone 1, H3g H3C8 8355 ENSG00000273983 -chr6 26272930 26273411 6p21.3 6p22.2 602807 HIST1H2BI, H2BFK Histone 1, H2bi H2BC10 8346 ENSG00000278588 -chr6 26285125 26285533 6p21.3 6p22.2 602828 HIST1H4H, H4FH Histone 1, H4h H4C8 8365 ENSG00000158406 -chr6 26286525 26286596 6p23-q12 6p22.2 180621 TRNAM1, TRMI2, TRM2, RNTMT1 tRNA methionine-1 TRX-CAT1-2 7210 -chr6 26299676 26299748 6p22.3-p21.1 6p22.2 601432 TRR-TCG4-1, TRNAR3, TRR3 tRNA arginine (anticodon TCG) 4-1 TRR-TCG4-1 7232 -chr6 26365169 26378319 6p22.1 6p22.2 613594 BTN3A2, BTF4 Butyrophilin, subfamily 3, member A2 BTN3A2 11118 ENSG00000186470 Btnl10 (MGI:2182073) -chr6 26382892 26394873 6p22.1 6p22.2 613591 BTN2A2, BTF2 Butyrophilin, subfamily 2, member A2 BTN2A2 10385 ENSG00000124508 Btn2a2 (MGI:3606486) -chr6 26402268 26415215 6p22.1 6p22.2 613593 BTN3A1, BTF5, CD277 Butyrophilin, subfamily 3, member A1 BTN3A1 11119 ENSG00000026950 Btnl10 (MGI:2182073) -chr6 26421390 26430587 6p22.1 6p22.2 613592 BTN2A3 Butyrophilin, subfamily 2, member A3 BTN2A3P 54718 ENSG00000124549 -chr6 26440503 26453414 6p22.1 6p22.2 613595 BTN3A3, BTF3 Butyrophilin, subfamily 3, member A3 BTN3A3 10384 ENSG00000111801 Btnl10 (MGI:2182073) -chr6 26457954 26476621 6p22.1 6p22.2 613590 BTN2A1, BTF1 Butyrophilin, subfamily 2, member A1 BTN2A1 11120 ENSG00000112763 Btn2a2 (MGI:3606486) -chr6 26500302 26510424 6p22.1 6p22.2 601610 BTN1A1, BTN Butyrophilin BTN1A1 696 ENSG00000124557 Btn1a1 (MGI:103118) -chr6 26537497 26537569 6p22.2 6p22.2 615305 TRNAR2 Transfer RNA arginine 2 TRR-ACG1-2 7231 -chr6 26538053 26538125 6p22.2 6p22.2 615306 TRNAV21 Transfer RNA valine 21 TRV-CAC1-6 100189227 -chr6 26596952 26600738 6p22.2 6p22.2 618750 ABT1 Activator of basal transcription 1 ABT1 29777 ENSG00000146109 Abt1 (MGI:1353636) -chr6 26634382 26659745 6p22.1 6p22.2 610847 ZNF322, ZNF489 Zinc finger protein 322 ZNF322 79692 ENSG00000181315 Zfp322a (MGI:2442566) -chr6 27100000 30500000 6p22 612368 ALPQTL3 Alkaline phosphatase, plasma level of, QTL 3 100196915 linkage with rs9467160 {Alkaline phosphatase, plasma level of, QTL3}, 612368 (2) -chr6 27100000 46200000 6p22-p21 600202 DYX2 Dyslexia, susceptibility to, 2 ?between D6S105 and TNFB {Dyslexia, susceptibility to, 2}, 600202 (2), Autosomal dominant -chr6 27100000 30500000 6p22 613015 NBLST4 Neuroblastoma, susceptibility to, 4 100306937 associated with rs6939340, rs4712653, rs9295536 {Neuroblastoma, susceptibility to, 4}, 613015 (2) -chr6 27100000 30500000 6p22.1 612892 STQTL18 Stature quantitative trait locus 18 100302683 associated with rs10946808 {Stature QTL 18}, 612892 (2) -chr6 27132315 27132794 6p22-p21.3 6p22.1 615044 HIST1H2BJ, H2BJ Histone gene cluster 1, H2B histone family, member J H2BC11 8970 ENSG00000124635 H2bc18 (MGI:2448413) -chr6 27133042 27133534 6p22-p21.3 6p22.1 615012 HIST1H2AG, H2AG, H2AFP Histone gene cluster 1, H2A histone family, member 6 H2AC11 8969 ENSG00000196787 -chr6 27138292 27146857 6p22-p21.3 6p22.1 615045 HIST1H2BK, H2BK Histone gene cluster 1, H2B histone family, member K H2BC12 85236 ENSG00000197903 -chr6 27139281 27139677 6p21.3 6p22.1 602833 HIST1H4I, H4FM, H4M Histone 1, H4i H4C9 8294 ENSG00000276180 -chr6 27147105 27147561 6p22-p21.3 6p22.1 615013 HIST1H2AH, H2AH Histone gene cluster 1, H2A histone family, member H H2AC12 85235 ENSG00000274997 -chr6 27235508 27235580 6p22.1 6p22.1 615307 TRNAV12 Transfer RNA valine 12 TRV-AAC5-1 100189014 -chr6 27247700 27256619 6p22-p21.3 6p22.1 607169 PRSS16, TSSP Protease, serine, 16 PRSS16 10279 ENSG00000112812 Prss16 (MGI:1859181) -chr6 27404005 27473104 6p21.3 6p22.1 602277 ZNF184 Zinc finger protein-184 ZNF184 7738 ENSG00000096654 Zfp184 (MGI:1922244) -chr6 27495813 27495894 6p22.1 6p22.1 189910 TRS-AGA2-3, TRNAS2, TRS2, TRNS tRNA serine (anticodon AGA) 2-3 TRS-AGA2-3 23437 -chr6 27505827 27505908 6p22.1 6p22.1 606172 TRS-TGA4-1, TRNAS3, TRS3 tRNA serine (anticodon TGA) 4-1 TRS-TGA4-1 23540 -chr6 27545688 27545769 6p22.1 6p22.1 606171 TRS-TGA2-1, TRNAS1, TRS1 tRNA serine (anticodon TGA) 2-1 TRS-TGA2-1 94017 -chr6 27681105 27681177 6p22.1 6p22.1 615308 TRNAV17 Transfer RNA valine 17 TRV-AAC4-1 100189161 -chr6 27684694 27684767 6p22.1 6p22.1 615309 TRNAT15 Transfer RNA threonine 15 TRT-AGT2-2 100189340 -chr6 27777884 27777955 6p23-q12 6p22.1 180620 TRNAM2, TRNAMI2, RNTMI2 tRNA methionine-2 TRX-CAT2-1 7212 2 of 12+ RNTMI genes are on chr. 6 -chr6 27807478 27807928 6p22-p21.3 6p22.1 602800 HIST1H2BL, H2BFC Histone 1, H2bl H2BC13 8340 ENSG00000185130 H2bc13,H2bc23,H2bc12 (MGI:2448399,MGI:2448403,MGI:3702051) -chr6 27808172 27808666 6p22-p21.3 6p22.1 602787 HIST1H2AI, H2AFC Histone 1, H2ai H2AC13 8329 ENSG00000196747 -chr6 27810050 27810535 6p22-p21.3 6p22.1 602818 HIST1H3H, H3FK Histone 1, H3h H3C10 8357 ENSG00000278828 in minor cluster on 6p -chr6 27814301 27814776 6p22-p21.3 6p22.1 602791 HIST1H2AJ, HIST1H2AK, H2AFE Histone 1, H2aj H2AC14 8331 ENSG00000276368 -chr6 27815021 27815488 6p22-p21.3 6p22.1 602802 HIST1H2BM, H2BFE Histone 1, H2bm H2BC14 8342 ENSG00000273703 H2bc22 (MGI:2448409) -chr6 27824091 27824479 6p22-p21.3 6p22.1 602826 HIST1H4J, H4FE Histone 1, H4j H4C11 8363 ENSG00000197238 -chr6 27831173 27831559 6p22-p21.3 6p22.1 602825 HIST1H4K, H4FD Histone 1, H4k H4C12 8362 ENSG00000273542 H4f16 (MGI:2448443) -chr6 27837879 27838374 6p22-p21.3 6p22.1 602788 HIST1H2AK, HIST1H2AI, H2AFD Histone 1, H2ak H2AC15 8330 ENSG00000275221 -chr6 27838568 27839109 6p22-p21.3 6p22.1 602801 HIST1H2BN, H2BFD Histone 1, H2bn H2BC15 8341 ENSG00000233822 H2bc3 (MGI:2448377) -chr6 27865316 27865797 6p22-p21.3 6p22.1 602793 HIST1H2AL, H2AFI Histone 1, H2al H2AC16 8332 ENSG00000276903 -chr6 27866791 27867587 6p22-p21.3 6p22.1 142711 HIST1H1B, H1F5 Histone 1, H1b H1-5 3009 ENSG00000184357 ~2Mb centromeric of H1F1 cluster H1f5 (MGI:1861461) -chr6 27871844 27872345 6p22-p21.3 6p22.1 602814 HIST1H3I, H3FF Histone 1, H3i H3C11 8354 ENSG00000275379 in cluster of 16 histone genes centromeric of major cluster -chr6 27873147 27873533 6p22-p21.3 6p22.1 602831 HIST1H4L, H4FK Histone 1, H4l H4C13 8368 ENSG00000275126 -chr6 27890314 27890825 6p22-p21.3 6p22.1 602817 HIST1H3J, H3FJ Histone 1, H3j H3C12 8356 ENSG00000197153 in 2nd cluster on 6p -chr6 27892698 27893184 6p22-p21.3 6p22.1 602796 HIST1H2AM, H2AFN Histone 1, H2am H2AC17 8336 ENSG00000278677 -chr6 27893424 27893890 6p22-p21.3 6p22.1 602808 HIST1H2BO, H2BFN Histone 1, H2bo H2BC17 8348 ENSG00000274641 -chr6 28080281 28104243 6p21.3 6p22.1 600834 ZNF165, LD65 Zinc finger protein-165 ZNF165 7718 ENSG00000197279 -chr6 28123752 28130081 6p22 6p22.1 618544 ZSCAN16, ZNF435 Zinc finger- and SCAN domain-containing protein 16 ZSCAN16 80345 ENSG00000196812 -chr6 28141642 28159460 6p21.3 6p22.1 602240 ZNF192 Zinc finger protein-192 ZKSCAN8 7745 ENSG00000198315 Zkscan8 (MGI:1913815) -chr6 28224701 28233486 6p21.3 6p22.1 602246 ZNF193 Zinc finger protein-193 ZSCAN9 7746 ENSG00000137185 -chr6 28241696 28259257 6p21.33-p21.31 6p22.1 611643 ZKSCAN4, ZNF307 Zinc finger with KRAB and SCAN domains 4 ZKSCAN4 387032 ENSG00000187626 Zkscan4,Zkscan3 (MGI:3649412,MGI:1919989) -chr6 28267049 28278217 6p22.1 6p22.1 616474 ZSCAN26, SREZBP Zinc finger- and SCAN domain-containing protein 26 ZSCAN26 7741 ENSG00000197062 Zscan26 (MGI:3531417) -chr6 28324736 28359156 6p22.3-p22.1 6p22.1 610794 ZNF323 Zinc finger protein 323 ZSCAN31 64288 ENSG00000235109 -chr6 28349912 28369173 6p22.1 6p22.1 612791 ZKSCAN3, ZNF306 Zinc finger protein with KRAB and SCAN domains 3 ZKSCAN3 80317 ENSG00000189298 Zkscan3 (MGI:1919989) -chr6 28378820 28399767 6p22.2-p21.3 6p22.1 603978 ZSCAN12, ZNF96, KIAA0426 Zinc finger- and SCAN domain-containing protein 12 ZSCAN12 9753 ENSG00000158691 Zscan12 (MGI:1099444) -chr6 28503295 28515792 6p22.1 6p22.1 607913 GPX6 Glutathione peroxidase 6 GPX6 257202 ENSG00000198704 Gpx6 (MGI:1922762) -chr6 28525880 28534954 6p22.1 6p22.1 603435 GPX5 Glutathione peroxidase 5 (epididymal) GPX5 2880 ENSG00000224586 Gpx5 (MGI:104886) -chr6 28568287 28616201 6p22.1 6p22.1 615254 SCAND3, ZBED9, BUSTER4, KIAA1925 SCAN domain-containing protein 3 ZBED9 114821 ENSG00000232040 -chr6 28903001 28923984 6p22 6p22.1 602165 TRIM27, RFP Tripartite motif-containing 27 TRIM27 5987 ENSG00000204713 Trim27 (MGI:97904) -chr6 29108057 29114769 6p22.1 6p22.1 615016 OR2J3, C3HEXS Olfactory receptor, family 2, subfamily J, member 3 OR2J3 442186 ENSG00000204701 [C3HEX, ability to smell], 615082 (3), Autosomal dominant Olfr137 (MGI:2177520) -chr6 29486696 29487955 6p21 6p22.1 607235 MAS1L, MRG MAS1 oncogene-like MAS1L 116511 ENSG00000204687 -chr6 29555514 29559731 6p21.3 6p22.1 606050 UBD, FAT10 Ubiquitin D UBD 10537 ENSG00000213886 Ubd (MGI:1344410) -chr6 29585120 29592505 6p21.3 6p22.1 600578 OR2H3, OLFR2 Olfactory receptor, family 2, subfamily H, member 3 (olfactory receptor 2) OR2H2 7932 ENSG00000204657 in class I MHC region Olfr90 (MGI:2177473) -chr6 29602229 29633182 6p21.3 6p22.1 603540 GABBR1, GABABR1 Gamma-aminobutyric acid B receptor 1 GABBR1 2550 ENSG00000204681 Gabbr1 (MGI:1860139) -chr6 29657091 29672364 6p21.3 6p22.1 159465 MOG, NRCLP7 Myelin-oligodendrocyte glycoprotein MOG 4340 ENSG00000204655 60kb telomeric to HLA-F; mutation identified in 1 NRCLP7 family ?Narcolepsy 7, 614250 (3), Autosomal dominant Mog (MGI:97435) -chr6 29672391 29681151 6p22.1 6p22.1 612192 ZFP57, TNDM1 Zinc finger protein 57, mouse, homolog of ZFP57 346171 ENSG00000204644 Diabetes mellitus, transient neonatal 1, 601410 (3), Autosomal dominant Zfp57 (MGI:99204) -chr6 29723433 29740354 6p21.3 6p22.1 143110 HLA-F, HLA-CDA12, HLAF Major histocompatibility complex, class I, F HLA-F 3134 ENSG00000204642 H2-M9,H2-T23,H2-T22,H2-Q8,H2-M5,H2-M2,H2-Q6,H2-M3,H2-K1,H2-Q7,H2-Q4,H2-M1,H2-Q2,H2-Q1,Gm8909,H2-M10.3,H2-M10.4,H2-M10.1,H2-M10.2,H2-T3,Gm11127,H2-M10.5,H2-M10.6,Gm7030,H2-D1,H2-Q10 (MGI:95896,MGI:3647514,MGI:95913,MGI:95957,MGI:95935,MGI:3779381,MGI:95936,MGI:95914,MGI:95959,MGI:95937,MGI:95915,MGI:95931,MGI:95933,MGI:95956,MGI:1276524,MGI:1276525,MGI:1276526,MGI:1276527,MGI:95917,MGI:1276522,MGI:95904,MGI:1276570,MGI:3704134,MGI:95928,MGI:95929,MGI:2687364) -chr6 29826473 29831129 6p21.3 6p22.1 142871 HLA-G HLA-G histocompatibility antigen, class I HLA-G 3135 ENSG00000204632 {Asthma, susceptibility to}, 600807 (2), Autosomal dominant H2-M9,H2-T23,H2-T22,H2-Q8,H2-M5,H2-M2,H2-Q6,H2-M3,H2-K1,H2-Q7,H2-Q4,H2-M1,H2-Q2,H2-Q1,Gm8909,H2-M10.3,H2-M10.4,H2-M10.1,H2-M10.2,H2-T3,Gm11127,H2-M10.5,H2-M10.6,Gm7030,H2-D1,H2-Q10 (MGI:95896,MGI:3647514,MGI:95913,MGI:95957,MGI:95935,MGI:3779381,MGI:95936,MGI:95914,MGI:95959,MGI:95937,MGI:95915,MGI:95931,MGI:95933,MGI:95956,MGI:1276524,MGI:1276525,MGI:1276526,MGI:1276527,MGI:95917,MGI:1276522,MGI:95904,MGI:1276570,MGI:3704134,MGI:95928,MGI:95929,MGI:2687364) -chr6 29942531 29945869 6p21.3 6p22.1 142800 HLA-A Major histocompatibility complex, class I, A HLA-A 3105 ENSG00000206503 {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) H2-Q8,H2-K1,H2-T3,H2-D1 (MGI:95959,MGI:95937,MGI:95904,MGI:95896) -chr6 29975114 29978402 6p21.3 6p22.1 615797 HCG9, HCGIX, HCGIX4 HLA complex group 9, noncoding HCG9 10255 ENSG00000204625 -chr6 30001010 30061188 6p22.1 6p22.1 615714 ZNRD1AS1, TCTEX4, HTEX4 ZNRD1 antisense RNA 1 ZNRD1ASP 80862 ENSG00000204623 -chr6 30061264 30064906 6p22.1 6p22.1 607525 ZNRD1, TCTEX6, HTEX6 Zinc ribbon domain-containing protein 1 POLR1H 30834 ENSG00000066379 Polr1h (MGI:1913386) -chr6 30066863 30070332 6p21.3 6p22.1 606670 PPP1R11, TCTEX5 Protein phosphatase 1, regulatory subunit 11 PPP1R11 6992 ENSG00000204619 Ppp1r11 (MGI:1923747) -chr6 30070265 30080624 6p21.3 6p22.1 607524 RNF39, HZFW, HZF, LIRF Ring finger protein 39 RNF39 80352 ENSG00000204618 Rnf39 (MGI:2156378) -chr6 30102891 30113089 6p23-p21 6p22.1 609316 TRIM31, HCGI Tripartite motif-containing protein 31 TRIM31 11074 ENSG00000204616 Trim31 (MGI:2385051) -chr6 30135997 30148772 6p22.1 6p22.1 616976 TRIM40, RNF35 Tripartite motif-containing protein 40 TRIM40 135644 ENSG00000204614 Trim40 (MGI:2684881) -chr6 30151938 30163215 6p21.3 6p22.1 605701 RNF9, RFB30, HERF1 RING finger protein-9 TRIM10 10107 ENSG00000204613 Trim10 (MGI:1338757) -chr6 30184452 30213434 6p21.3 6p22.1 600830 ZNF173 Zinc finger protein-173 TRIM26 7726 ENSG00000234127 Trim26 (MGI:1337056) -chr6 30326468 30343728 6p22.1-p21.3 6p22.1 605700 TRIM39, RNF23, TFP Tripartite motif-containing 39 TRIM39 56658 ENSG00000204599 Trim39 (MGI:1890659) -chr6 30345155 30346856 6p21 6p22.1 612524 RPP21 Ribonuclease P/MRP subunit p21 RPP21 79897 ENSG00000241370 Rpp21 (MGI:1914926) -chr6 30489507 30494193 6p21.3 6p22.1 143010 HLA-E Major histocompatibility complex, class I, E HLA-E 3133 ENSG00000204592 H2-M9,H2-T23,H2-T22,H2-Q8,H2-M5,H2-M2,H2-Q6,H2-M3,H2-K1,H2-Q7,H2-Q4,H2-M1,H2-Q2,H2-Q1,Gm8909,H2-M10.3,H2-M10.4,H2-M10.1,H2-M10.2,H2-T3,Gm11127,H2-M10.5,H2-M10.6,Gm7030,H2-D1,H2-Q10 (MGI:95896,MGI:3647514,MGI:95913,MGI:95957,MGI:95935,MGI:3779381,MGI:95936,MGI:95914,MGI:95959,MGI:95937,MGI:95915,MGI:95931,MGI:95933,MGI:95956,MGI:1276524,MGI:1276525,MGI:1276526,MGI:1276527,MGI:95917,MGI:1276522,MGI:95904,MGI:1276570,MGI:3704134,MGI:95928,MGI:95929,MGI:2687364) -chr6 30500000 32100000 6p21.33 613024 FL1 Follicular lymphoma, susceptibility to, 1 100306940 associated with rs6457327 {Follicular lymphoma, susceptibility to, 1}, 613024 (2) -chr6 30500000 32100000 6p21.33 612593 LNCR4 Lung cancer susceptibility 4 100271693 associated with rs3117582 and rs3131379 {Lung cancer susceptibility 4}, 612593 (2) -chr6 30541380 30557198 6p21.3 6p21.33 143024 GNL1, HSR1 Guanine nucleotide-binding protein-like 1 GNL1 2794 ENSG00000204590 Gnl1 (MGI:95764) -chr6 30571441 30591521 6p21.33 6p21.33 603429 ABCF1, ABC50 ATP-binding cassette 50, TNF-alpha stimulated ABCF1 23 ENSG00000204574 Abcf1 (MGI:1351658) -chr6 30584331 30584416 6p21.33 6p21.33 611619 MIR877, MIRN877 Micro RNA 877 MIR877 100126314 ENSG00000216101 Mir877 (MGI:3718567) -chr6 30600399 30618606 6p21.3 6p21.33 603771 PPP1R10, PNUTS Protein phosphatase 1, regulatory subunit 10 PPP1R10 5514 ENSG00000204569 Ppp1r10 (MGI:1289273) -chr6 30617319 30626392 6p21.3 6p21.33 611982 MRPS18B, MRPS18-2 Mitochondrial ribosomal protein S18B MRPS18B 28973 ENSG00000204568 pseudogenes on chromosomes 1 and 2 Mrps18b (MGI:1914223) -chr6 30626873 30646820 6p21.33 6p21.33 615556 ATAT1, MEC17, C6orf134 Alpha-tubulin acetyltransferase 1 ATAT1 79969 ENSG00000137343 Atat1 (MGI:1913869) -chr6 30653126 30673005 6p21.3 6p21.33 603405 DHX16, DDX16, DBP2, PRP8, NMOAS DEAH-box helicase 16 DHX16 8449 ENSG00000204560 Neuromuscular disease and ocular or auditory anomalies with or without seizures, 618733 (3), Autosomal dominant Dhx16 (MGI:1916442) -chr6 30676388 30687206 6p21.3 6p21.33 610990 PPP1R18, KIAA1949 Protein phosphatase 1 regulatory subunit 18 PPP1R18 170954 ENSG00000146112 Ppp1r18 (MGI:1923698) -chr6 30699806 30717987 6pter-p21.3 6p21.33 607593 MDC1, NFBD1, KIAA0170 Mediator of DNA damage checkpoint protein 1 MDC1 9656 ENSG00000137337 Mdc1 (MGI:3525201) -chr6 30720351 30725421 6p21.3 6p21.33 191130 TUBB, TUBB5, M40, CDCBM6, CSCSC1 Tubulin, beta polypeptide TUBB 203068 ENSG00000196230 Symmetric circumferential skin creases, congenital, 1, 156610 (3), Autosomal dominant; Cortical dysplasia, complex, with other brain malformations 6, 615771 (3), Autosomal dominant Tubb5 (MGI:107812) -chr6 30727708 30742846 6p21.3 6p21.33 606998 FLOT1 Flotillin 1 FLOT1 10211 ENSG00000137312 Flot1 (MGI:1100500) -chr6 30743198 30744546 6p21.3 6p21.33 602996 IER3, DIF2, IEX1, PRG1, GLY96 Immediate early response-3 IER3 8870 ENSG00000137331 Ier3 (MGI:104814) -chr6 30880957 30900155 6p21.3 6p21.33 600408 NEP, EDDR1, NTRK4, TRKE Neuroepithelial tyrosine kinase DDR1 780 ENSG00000204580 Ddr1 (MGI:99216) -chr6 30908206 30914105 6p21.3 6p21.33 601760 GTF2H4 General transcription factor IIH, polypeptide 4 GTF2H4 2968 ENSG00000213780 Gtf2h4 (MGI:1338799) -chr6 30914237 30926458 6p21.3 6p21.33 612802 VARS2, KIAA1885, COXPD20 Valyl-tRNA synthetase 2 VARS2 57176 ENSG00000137411 Combined oxidative phosphorylation deficiency 20, 615917 (3), Autosomal recessive Vars2 (MGI:1916165) -chr6 30940972 30954220 6p21.3 6p21.33 613928 MUCL3, DPCR1, C6orf37 Mucin-like 3 MUCL3 135656 ENSG00000168631 Mucl3 (MGI:2685476) -chr6 30983717 30989902 6p21.33 6p21.33 616991 MUC21, C6orf205 Mucin 21, cell surface-associated MUC21 394263 ENSG00000204544 Muc21 (MGI:3779983) -chr6 31005951 31035401 6p21.3 6p21.33 613917 MUC22, PBMUCL1 Mucin 22 MUC22 100507679 ENSG00000261272 -chr6 31053448 31059848 6p21.3 6p21.33 613918 HCG22, PBMUCL2 HLA complex group 22 HCG22 285834 ENSG00000228789 -chr6 31111222 31112574 6p21.33 6p21.33 611401 C6orf15, STG Chromosome 6 open reading frame 15 C6orf15 29113 ENSG00000204542 2300002M23Rik (MGI:1916792) -chr6 31114799 31140091 6p21.3 6p21.33 613525 SEEK1, C6orf16, PSORS1C1 SEEK1 gene PSORS1C1 170679 ENSG00000204540 -chr6 31115086 31120445 6p21.3 6p21.33 602593 CDSN, HTSS1, HYPT2, PSS1 Corneodesmosin CDSN 1041 ENSG00000204539 Hypotrichosis 2, 146520 (3), Autosomal dominant; Peeling skin syndrome 1, 270300 (3), Autosomal recessive Cdsn (MGI:3505689) -chr6 31137533 31139065 6p21.33 6p21.33 613526 SPR1, C6orf17 SPR1 gene PSORS1C2 170680 ENSG00000204538 Psors1c2 (MGI:1930025) -chr6 31142438 31158208 6p21.3 6p21.33 605310 CCHCR1, HCR, C6orf18 Coiled-coil alpha-helical rod protein 1 CCHCR1 54535 ENSG00000204536 ?role in psoriasis Cchcr1 (MGI:2385321) -chr6 31158588 31164214 6p21.3 6p21.33 600912 TCF19, SC1 Transcription factor-19 (SC1) TCF19 6941 ENSG00000137310 Tcf19 (MGI:103180) -chr6 31164336 31170681 6p21.3 6p21.33 164177 POU5F1, OTF3, OCT3 Pou domain, class 5, transcription factor 1 (octamer-binding transcription factor 3) POU5F1 5460 ENSG00000204531 OTF3L on 12; ?related pseudogene on chr.8 Pou5f1 (MGI:101893) -chr6 31173734 31186316 6p21 6p21.33 618690 PSORS1C3 Psoriasis susceptibility 1 candidate 3, noncoding PSORS1C3 100130889 -chr6 31268748 31272091 6p21.3 6p21.33 142840 HLA-C, PSORS1 Major histocompatibility complex, class I, C HLA-C 3107 ENSG00000204525 {Psoriasis susceptibility 1}, 177900 (3), Multifactorial; {HIV-1 viremia, susceptibility to}, 609423 (3) Gm8909,H2-Q8,H2-K1,H2-Q2,H2-T3,H2-Q1,H2-D1,H2-Q10 (MGI:95959,MGI:95937,MGI:95904,MGI:95931,MGI:3704134,MGI:95896,MGI:95928,MGI:95929) -chr6 31353874 31357178 6p21.3 6p21.33 142830 HLA-B, SPDA1 Major histocompatibility complex, class I, B HLA-B 3106 ENSG00000234745 {Synovitis, chronic, susceptibility to} (3); {Abacavir hypersensitivity, susceptibility to} (3); {Spondyloarthropathy, susceptibility to, 1}, 106300 (3), Multifactorial; {Stevens-Johnson syndrome, susceptibility to}, 608579 (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) Gm8909,H2-Q8,H2-K1,H2-Q2,H2-T3,H2-Q1,H2-D1,H2-Q10 (MGI:95959,MGI:95937,MGI:95904,MGI:95931,MGI:3704134,MGI:95896,MGI:95928,MGI:95929) -chr6 31400710 31415314 6p21.3 6p21.33 600169 MICA MHC class I polypeptide-related sequence A MICA 100507436 ENSG00000204520 Mill2 (MGI:2179989) -chr6 31463179 31465808 6p21.3 6p21.33 604676 HCP5, 6S2650E Major histocompatibility complex, class I, gene P5-1 HCP5 10866 ENSG00000206337 -chr6 31494917 31511123 6p21.3 6p21.33 602436 MICB MHC class I polypeptide-related sequence B MICB 4277 ENSG00000204516 Mill2 (MGI:2179989) -chr6 31528961 31530231 6p21.3 6p21.33 609624 MCCD1 Mitochondrial coiled-coil domain 1 MCCD1 401250 ENSG00000204511 -chr6 31530225 31542002 6p21.3 6p21.33 142560 DDX39B, BAT1, D6S81E DExD-box helicase 39B DDX39B 7919 ENSG00000198563 5 BATs in 160kb segment including also TNFA, TNFB Ddx39b (MGI:99240) -chr6 31544443 31546741 6p21.3 6p21.33 606853 ATP6V1G2, ATP6G ATPase, H+ transporting, V1 subunit G2 ATP6V1G2 534 ENSG00000213760 Atp6v1g2 (MGI:1913487) -chr6 31546850 31558828 6p21.3 6p21.33 601022 NFKBIL1 Nuclear factor-kappa-B inhibitor-like protein 1 NFKBIL1 4795 ENSG00000204498 {Rheumatoid arthritis, susceptibility to}, 180300 (3) Nfkbil1 (MGI:1340031) -chr6 31560549 31574323 6p21.3 6p21.33 153440 LTA, TNFB Lymphotoxin alpha (formerly tumor necrosis factor beta) LTA 4049 ENSG00000226979 cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B {Psoriatic arthritis, susceptibility to}, 607507 (3); {Myocardial infarction, susceptibility to}, 608446 (3); {Leprosy, susceptibility to, 4}, 610988 (3) Lta (MGI:104797) -chr6 31575564 31578335 6p21.3 6p21.33 191160 TNF, TNFA Tumor necrosis factor (cachectin) TNF 7124 ENSG00000232810 5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B {Migraine without aura, susceptibility to}, 157300 (3), Autosomal dominant; {Dementia, vascular, susceptibility to} (3); {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Septic shock, susceptibility to} (3); {Malaria, cerebral, susceptibility to}, 611162 (3) Tnf (MGI:104798) -chr6 31580557 31582424 6p21.3 6p21.33 600978 LTB, TNFC Lymphotoxin B LTB 4050 ENSG00000227507 Ltb (MGI:104796) -chr6 31586184 31588908 6p21.3-p21.1 6p21.33 109170 LST1, D6S49E, B144 Leukocyte-specific transcript 1 (B144 protein) LST1 7940 ENSG00000204482 10kb 3' from TNFA Lst1 (MGI:1096324) -chr6 31588894 31593023 6p21.3 6p21.33 611550 NCR3, 1C7, NKP30, CD337, MALS Natural cytotoxicity triggering receptor 3 NCR3 259197 ENSG00000204475 {Malaria, mild, susceptibility to}, 609148 (3) Ncr3-ps (MGI:2149332) -chr6 31615211 31617014 6p21.3 6p21.33 601833 AIF1, IRT1 Allograft inflammatory factor 1 AIF1 199 ENSG00000204472 part of TNF block Aif1 (MGI:1343098) -chr6 31620714 31637779 6p21.3 6p21.33 142580 PRRC2A, BAT2, D6S51E Proline-rich coiled-coil protein 2A PRRC2A 7916 ENSG00000204469 Prrc2a (MGI:1915467) -chr6 31639027 31660899 6p21.3 6p21.33 142590 BAG6, BAT3, D6S52E BAG cochaperone 6 BAG6 7917 ENSG00000204463 Bag6 (MGI:1919439) -chr6 31652403 31658209 6p21.3 6p21.33 606907 APOM, NG20 Apolipoprotein M APOM 55937 ENSG00000204444 Apom (MGI:1930124) -chr6 31661227 31666282 6p21.3 6p21.33 142610 GPANK1, BAT4, D6S54E G patch domain- and ankyrin repeats-containing protein 1 GPANK1 7918 ENSG00000204438 Gpank1 (MGI:2148975) -chr6 31666079 31670066 6p21.3 6p21.33 115441 CSNK2B, POBINDS Casein kinase-2, beta polypeptide CSNK2B 1460 ENSG00000204435 Poirier-Bienvenu neurodevelopmental syndrome, 618732 (3), Autosomal dominant Csnk2b (MGI:88548) -chr6 31670950 31672449 6p21.3 6p21.33 610433 LY6G5B, G5B Lymphocyte antigen 6 complex, locus G5B LY6G5B 58496 ENSG00000240053 Ly6g5b (MGI:2385809) -chr6 31676683 31680372 6p21.3 6p21.33 610434 LY6G5C, G5C Lymphocyte antigen 6 complex, locus G5C LY6G5C 80741 ENSG00000204428 Ly6g5c (MGI:2148974) -chr6 31686954 31703323 6p21.3 6p21.33 142620 ABHD16A, BAT5, D6S82E Abhydrolase domain-containing 16A, phospholipase ABHD16A 7920 ENSG00000204427 Abhd16a (MGI:99476) -chr6 31706865 31710678 6p21.33 6p21.33 611404 LY6G6F, C6orf21 Lymphocyte antigen 6 family, member G6F LY6G6F 259215 ENSG00000204424 Ly6g6f (MGI:3616082) -chr6 31711975 31714064 6p21.3 6p21.33 610437 LY6G6E, G6E Lymphocyte antigen 6 family member G6E, pseudogene LY6G6E 79136 -chr6 31715347 31717918 6p21.3 6p21.33 606038 LY6G6D, MEGT1, G6D, C6orf23 Lymphocyte antigen 6 complex, locus G6D LY6G6D 58530 ENSG00000244355 Ly6g6d (MGI:2148931) -chr6 31718647 31721745 6p21.3 6p21.33 610435 LY6G6C, G6C Lymphocyte antigen 6 complex, locus G6C LY6G6C 80740 ENSG00000204421 Ly6g6c (MGI:2148930) -chr6 31720556 31726713 6p21.33 6p21.33 606520 G6B, C6orf25, THAMY G6B protein MPIG6B 80739 ENSG00000204420 mutation identified in 1 THAMY family ?Thrombocytopenia, anemia, and myelofibrosis, 617441 (3), Autosomal recessive Mpig6b (MGI:2146995) -chr6 31727039 31730262 6p21.3 6p21.33 604744 DDAH2 Dimethylarginine dimethylaminohydrolase-2 DDAH2 23564 ENSG00000213722 Ddah2 (MGI:1859016) -chr6 31730580 31737317 6p21.33 6p21.33 602872 CLIC1 Chloride intracellular channel 1 CLIC1 1192 ENSG00000213719 Clic1 (MGI:2148924) -chr6 31740004 31762675 6p21.33 6p21.33 603382 MSH5, POF13 mutS homolog 5 MSH5 4439 ENSG00000204410 mutation identified in POF13 family ?Premature ovarian failure 13, 617442 (3), Autosomal recessive Msh5 (MGI:1329021) -chr6 31765589 31777327 6p21.33 6p21.33 609693 VWA7, C6orf27, G7C von Willebrand factor A domain-containing protein 7 VWA7 80737 ENSG00000204396 Vwa7 (MGI:1306798) -chr6 31777517 31795927 6p21.3 6p21.33 192150 VARS1, VARS, G7A, VARS2, NDMSCA Valyl-tRNA synthetase 1 VARS1 7407 ENSG00000204394 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive Vars (MGI:90675) -chr6 31797395 31806965 6p21.3 6p21.33 607282 LSM2, C6orf28 LSM2 protein LSM2 57819 ENSG00000204392 Lsm2 (MGI:90676) -chr6 31809618 31815282 6p21.3 6p21.33 140559 HSPA1L Heat-shock 70kD protein-like-1 HSPA1L 3305 ENSG00000204390 Hspa1l (MGI:96231) -chr6 31815542 31817941 6p21.3 6p21.33 140550 HSPA1A Heat-shock 70kD protein-1A HSPA1A 3303 ENSG00000204389 also 14q22-q24, chr.21, and at least 1 other chromosome Hspa1a (MGI:96244) -chr6 31827737 31830253 6p21.3 6p21.33 603012 HSPA1B Heat-shock 70kD protein-1B HSPA1B 3304 ENSG00000204388 Hspa1b,Hspa1a (MGI:99517,MGI:96244) -chr6 31834915 31839760 6p21.3 6p21.33 605447 SNHG32, C6orf48, G8 Small nucleolar RNA host gene 32 SNHG32 50854 ENSG00000204387 -chr6 31857658 31862820 6p21.3 6p21.33 608272 NEU1, NEU, SIAL1 Neuraminidase 1 (lysosomal sialidase; sialidase 1) NEU1 4758 ENSG00000204386 Sialidosis, type II, 256550 (3), Autosomal recessive; Sialidosis, type I, 256550 (3), Autosomal recessive Neu1 (MGI:97305) -chr6 31863191 31878996 6p21.3 6p21.33 606107 SLC44A4, CTL4, C6orf29, DFNA72 Solute carrier family 44, member 4 SLC44A4 80736 ENSG00000204385 mutation identified in 1 DFNA72 family ?Deafness, autosomal dominant 72, 617606 (3), Autosomal dominant Slc44a4 (MGI:1917379) -chr6 31879758 31897697 6p21.3 6p21.33 604599 EHMT2, GAT8, G9A, NG36 Euchromatic histone-lysine N-methyltransferase 2 EHMT2 10919 ENSG00000204371 Ehmt2 (MGI:2148922) -chr6 31897782 31945671 6p21.3 6p21.33 613927 C2, ARMD14 Complement component-2 C2 717 ENSG00000166278 no crossover with BF C2 deficiency, 217000 (3), Autosomal recessive; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3), Digenic dominant C2 (MGI:88226) -chr6 31946094 31952083 6p21.3 6p21.33 138470 CFB, BF, GBG, AHUS4, ARMD14, CFBD Complement factor B CFB 629 ENSG00000243649 mutation identified in 1 CFBD family ?Complement factor B deficiency, 615561 (3), Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3), Autosomal dominant; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3), Digenic dominant Cfb (MGI:105975) -chr6 31952086 31959042 6p21.3 6p21.33 154040 NELFE, RDBP Negative elongation factor complex, member E NELFE 7936 ENSG00000204356 Nelfe (MGI:102744) -chr6 31959156 31969851 6p21 6p21.33 600478 SKIV2L, SKI2, SKI2W, THES2 Superkiller viralicidic activity 2, S. cerevisiae, homolog, like SKIV2L 6499 ENSG00000204351 Trichohepatoenteric syndrome 2, 614602 (3), Autosomal recessive Skiv2l (MGI:1099835) -chr6 31969810 31972289 6p21.3 6p21.33 605996 DXO, DOM3Z Decapping exoribonuclease DXO 1797 ENSG00000204348 Dxo (MGI:1890444) -chr6 31971174 31981445 6p21.3 6p21.33 604977 STK19 Serine/threonine protein kinase 19 STK19 8859 ENSG00000204344 Stk19 (MGI:1860085) -chr6 31982056 32002680 6p21.3 6p21.33 120810 C4A, C4S, C4AD Complement component-4A C4A 720 ENSG00000244731 order: HLA-B, C2, BF, C4A, C4B, CYP21, DR [Blood group, Rodgers], 614374 (3); C4a deficiency, 614380 (3), Autosomal recessive C4b (MGI:88228) -chr6 32014794 32035417 6p21.3 6p21.33 120820 C4B, C4F, C4BD Complement component-4B C4B 721 ENSG00000224389 10kb from C4S C4B deficiency, 614379 (3) C4b (MGI:88228) -chr6 32038414 32041643 6p21.3 6p21.33 613815 CYP21A2, CYP21, CA21H Cytochrome P450, subfamily XXIA, polypeptide 2 (steroid 21-hydroxylase) CYP21A2 1589 ENSG00000231852 linked to C2, C4, BF; 2 loci, A and B; only B active; pseudogene CYP21P contiguous on 6p Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive Cyp21a1 (MGI:88591) -chr6 32041152 32109337 6p21.3 6p21.33-p21.32 600985 TNXB, TNX, TNXB1, TNXBS, TNXB2, EDSCLL1, VUR8 Tenascin XB TNXB 7148 ENSG00000168477 Ehlers-Danlos syndrome, classic-like, 1, 606408 (3), Autosomal recessive; Vesicoureteral reflux 8, 615963 (3), Autosomal dominant Tnxb (MGI:1932137) -chr6 32115263 32128245 6p21.3 6p21.32 600984 ATF6B, CREBL1 Activating transcription factor 6 beta ATF6B 1388 ENSG00000213676 Atf6b (MGI:105121) -chr6 32128706 32130287 6p21.3 6p21.32 617076 FKBPL, DIR1, WISP39 FK506-binding protein-like FKBPL 63943 ENSG00000204315 Fkbpl (MGI:1932127) -chr6 32148327 32153625 6p21.32 6p21.32 618297 PRRT1, DSPD1 Proline-rich transmembrane protein 1 PRRT1 80863 ENSG00000204314 Prrt1 (MGI:1932118) -chr6 32153527 32163674 6p21.3 6p21.32 603298 PPT2 Palmitoyl-protein thioesterase-2 PPT2 9374 ENSG00000221988 Ppt2 (MGI:1860075) -chr6 32164594 32168280 6p21.32 6p21.32 609897 EGFL8 Epidermal growth factor-like 8 EGFL8 80864 ENSG00000241404 Egfl8 (MGI:1932094) -chr6 32168211 32178107 6p21.3 6p21.32 603099 AGPAT1, LPAATA 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase-alpha) AGPAT1 10554 ENSG00000204310 Agpat1 (MGI:1932075) -chr6 32178404 32180792 6p21.3 6p21.32 602677 RNF5, RING5 RING finger protein-5 RNF5 6048 ENSG00000204308 Rnf5 (MGI:1860076) -chr6 32180968 32184379 6p21.3 6p21.32 600214 AGER, RAGE Advanced glycosylation end product-specific receptor AGER 177 ENSG00000204305 at junction of classes II, III MHC Ager (MGI:893592) -chr6 32184732 32190201 6p21.3 6p21.32 176311 PBX2, HOX12, G17 Pre-B-cell leukemia transcription factor-2 PBX2 5089 ENSG00000204304 Pbx2 (MGI:1341793) -chr6 32190765 32195522 6p21.32 6p21.32 618558 GPSM3, AGS4 G-protein signaling modulator 3 GPSM3 63940 ENSG00000213654 Gpsm3 (MGI:2146785) -chr6 32194842 32224066 6p21.3 6p21.32 164951 NOTCH4, INT3 Notch, Drosophila, homolog of, 4 NOTCH4 4855 ENSG00000204301 Notch4 (MGI:107471) -chr6 32290522 32371903 6p21.32 6p21.32 618151 TSBP1, TSBP, C6orf10 Testis-expressed basic protein 1 TSBP1 10665 ENSG00000204296 BC051142 (MGI:3039565) -chr6 32393338 32408878 6p21.3 6p21.32 606000 BTNL2, SS2 Butyrophilin-like protein 2 BTNL2 56244 ENSG00000204290 {Sarcoidosis, susceptibility to, 2}, 612387 (3), Autosomal dominant Btnl2 (MGI:1859549) -chr6 32439886 32445045 6p21.3 6p21.32 142860 HLA-DRA Major histocompatibility complex, class II, DR alpha HLA-DRA 3122 ENSG00000204287 1 alpha, 3 different beta chains H2-Ea (MGI:95900) -chr6 32517342 32530315 6p21.3 6p21.32 604776 HLA-DRB5 Major histocompatibility complex, class II, DR beta-5 HLA-DRB5 3127 ENSG00000198502 H2-Eb2,H2-Eb1 (MGI:95902,MGI:95901) -chr6 32578774 32589847 6p21.3 6p21.32 142857 HLA-DRB1, SS1 Major histocompatibility complex, class II, DR beta-1 HLA-DRB1 3123 ENSG00000196126 {Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial; {Sarcoidosis, susceptibility to, 1}, 181000 (3), Autosomal dominant H2-Eb2,H2-Eb1 (MGI:95902,MGI:95901) -chr6 32637405 32654845 6p21.3 6p21.32 146880 HLA-DQA1, CELIAC1 Major histocompatibility complex, class II, DQ alpha-1 HLA-DQA1 3117 ENSG00000196735 {Celiac disease, susceptibility to}, 212750 (3), Autosomal recessive, Multifactorial H2-Aa (MGI:95895) -chr6 32659466 32666656 6p21.3 6p21.32 604305 HLA-DQB1, CELIAC1 Major histocompatibility complex, class II, DQ beta-1 HLA-DQB1 3119 ENSG00000179344 {Celiac disease, susceptibility to}, 212750 (3), Autosomal recessive, Multifactorial; {Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial; {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3), Autosomal dominant -chr6 32741390 32747197 6p21.32 6p21.32 613503 HLA-DQA2, HLA-DXA Major histocompatibility complex, class II, DQ alpha-2 HLA-DQA2 3118 ENSG00000237541 H2-Aa (MGI:95895) -chr6 32756093 32763552 6p21.32 6p21.32 615161 HLA-DQB2, HLA-DXB Major histocompatibility complex, class II, DQ beta-2 HLA-DQB2 3120 ENSG00000232629 H2-Ab1 (MGI:103070) -chr6 32812762 32817001 6p21.3 6p21.32 600629 HLA-DOB Major histocompatibility complex, class II, DO beta HLA-DOB 3112 ENSG00000241106 H2-Ob (MGI:95925) -chr6 32821830 32838738 6p21.3 6p21.32 170261 TAP2, ABCB3, PSF2, RING11 Transporter 2, ATP-binding cassette, subfamily B TAP2 6891 ENSG00000204267 tel-TAP1-LMP2-LMP1-TAP2-cen Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3), Autosomal recessive Tap2 (MGI:98484) -chr6 32840716 32844678 6p21.3 6p21.32 177046 PSMB8, LMP7, RING10, JMP, NKJO, ALDD, PRAAS1 Proteasome subunit, beta type, 8 (large multifunctional protease-7) PSMB8 5696 ENSG00000204264 between TAP1 and TAP2 Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3), Autosomal recessive Psmb8 (MGI:1346527) -chr6 32845208 32853703 6p21.3 6p21.32 170260 TAP1, ABCB2, RING4, PSF1 Transporter 1, ATP-binding cassette, subfamily B TAP1 6890 ENSG00000168394 ~7kb telomeric to TAP2 Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive Tap1 (MGI:98483) -chr6 32854191 32859850 6p21.3 6p21.32 177045 PSMB9, LMP2, RING12, PRAAS3 Proteasome subunit, beta type, 9 PSMB9 5698 ENSG00000240065 mutation identified in 1 digenic family ?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3), Autosomal recessive Psmb9 (MGI:1346526) -chr6 32934635 32941027 6p21.3 6p21.32 142856 HLA-DMB, RING7 Major histocompatibility complex, class II, DM beta HLA-DMB 3109 ENSG00000242574 H2-DMb2,H2-DMb1 (MGI:95922,MGI:95923) -chr6 32948617 32953096 6p21.3 6p21.32 142855 HLA-DMA, RING6 Major histocompatibility complex, class II, DM alpha HLA-DMA 3108 ENSG00000204257 H2-DMa (MGI:95921) -chr6 32968593 32981504 6p21.3 6p21.32 601540 BRD2, RING3, FSRG1 Bromodomain-containing protein 2 BRD2 6046 ENSG00000204256 between HLA-DNA and HLA-DMA Brd2 (MGI:99495) -chr6 33004181 33009590 6p21.3 6p21.32 142930 HLA-DNA Major histocompatibility complex, class II, DN alpha HLA-DOA 3111 ENSG00000204252 H2-Oa (MGI:95924) -chr6 33064568 33080747 6p21.3 6p21.32 142880 HLA-DPA1, HLADP Major histocompatibility complex, class II, DP alpha-1 HLA-DPA1 3113 ENSG00000231389 2 different alpha, 2 different beta chains -chr6 33075989 33089695 6p21.3 6p21.32 142858 HLA-DPB1 Major histocompatibility complex, class II, DP beta-1 HLA-DPB1 3115 ENSG00000223865 {Beryllium disease, chronic, susceptibility to} (3) -chr6 33162691 33193008 6p21.3 6p21.32 120290 COL11A2, DFNA13, DFNB53, FBCG2, OSMEDA, OSMEDB Collagen XI, alpha-2 polypeptide COL11A2 1302 ENSG00000204248 45kb centromeric of HLA-DPB2; 3'--5'-cen Deafness, autosomal dominant 13, 601868 (3), Autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3), Autosomal recessive; Fibrochondrogenesis 2, 614524 (3), Autosomal dominant, Autosomal recessive; Deafness, autosomal recessive 53, 609706 (3), Autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3), Autosomal dominant Col11a2 (MGI:88447) -chr6 33193587 33200990 6p21.3 6p21.32 180246 RXRB Retinoid X receptor, beta RXRB 6257 ENSG00000204231 Rxrb (MGI:98215) -chr6 33200866 33204436 6p21.3 6p21.32 601416 SLC39A7, D6S2244E, HKE4 Solute carrier family 39 (zinc transporter), member 7 (Ke4 gene, mouse, homolog of) SLC39A7 7922 ENSG00000112473 Slc39a7 (MGI:95909) -chr6 33204654 33206830 6p21.3 6p21.32 601417 HSD17B8, FABGL, D6S2245E, HKE6 Hydroxysteroid (17-beta) dehydrogenase 8 (Ke6 gene, mouse, homolog of) HSD17B8 7923 ENSG00000204228 H2-Ke6 (MGI:95911) -chr6 33207834 33207943 6p21.32 6p21.32 611500 MRI219-1, MIRN219-1 Micro RNA 219-1 MIR219A1 407002 ENSG00000199036 Mir219a-1 (MGI:3618753) -chr6 33208499 33212715 6p21.3 6p21.32 602045 RING1, RNF1 RING finger protein-1 RING1 6015 ENSG00000204227 Ring1 (MGI:1101770) -chr6 33250271 33271964 6p21.3 6p21.32 603443 VPS52, SACM2L VPS52 subunit of GARP complex VPS52 6293 ENSG00000223501 Vps52 (MGI:1330304) -chr6 33272074 33276510 6p21.3 6p21.32 180473 RPS18 Ribosomal protein S18 RPS18 6222 ENSG00000231500 Rps18 (MGI:98146) -chr6 33277122 33278824 6p21.3 6p21.32 603095 B3GALT4 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 4 B3GALT4 8705 ENSG00000235863 B3galt4 (MGI:1859517) -chr6 33278206 33289238 6p21.3 6p21.32 611440 WDR46, BING4 WD repeat-containing protein 46 WDR46 9277 ENSG00000227057 Wdr46 (MGI:1931871) -chr6 33289596 33290933 6p21.32 6p21.32 605660 PFDN6, HKE2 Prefoldin 6 PFDN6 10471 ENSG00000204220 Pfdn6 (MGI:95908) -chr6 33291653 33299364 6p21.3 6p21.32 602306 RAB2L RAB2, member RAS oncogene family-like RGL2 5863 ENSG00000237441 Rgl2 (MGI:107483) -chr6 33299693 33314253 6p21.3 6p21.32 601962 TAPBP, TPSN TAP-binding protein (tapasin) TAPBP 6892 ENSG00000231925 Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive Tapbp (MGI:1201689) -chr6 33314417 33317941 6p21.3 6p21.32 611439 ZBTB22, BING1 Zinc finger- and BTB domain-containing protein 22 ZBTB22 9278 ENSG00000236104 Zbtb22 (MGI:1931870) -chr6 33318557 33322958 6p21.3 6p21.32 603186 DAXX Death-associated protein 6 DAXX 1616 ENSG00000204209 Daxx (MGI:1197015) -chr6 33391523 33410225 6p21.3 6p21.32 603763 KIFC1, KNSL2, HSET Kinesin family member C1 KIFC1 3833 ENSG00000237649 Kifc5b (MGI:2137414) -chr6 33410750 33416442 6p21.3 6p21.32 602881 PHF1 PHD finger protein-1 PHF1 5252 ENSG00000112511 Phf1 (MGI:98647) -chr6 33416441 33418106 6p21.32 6p21.32 616953 CUTA, ACHAP, C6orf82 CutA divalent cation tolerance homolog CUTA 51596 ENSG00000112514 Cuta (MGI:1914925) -chr6 33420064 33453688 6p21.3 6p21.32 603384 SYNGAP1, MRD5 Synaptic Ras GTPase activating protein 1 SYNGAP1 8831 ENSG00000197283 Mental retardation, autosomal dominant 5, 612621 (3), Autosomal dominant Syngap1 (MGI:3039785) -chr6 33500000 36600000 6p21.3 107320 ATPLS Antiphospholipid syndrome, familial 100499532 possible linkage with HLA-DRB1*14 ?Antiphospholipid syndrome, familial, 107320 (2), Autosomal dominant -chr6 33500000 40500000 6p21.3-p21.2 153380 CP20 Lymphocyte cytosolic protein, molecular weight 20kD 7938 -chr6 33500000 36600000 6p21.3 612862 CTEPH1 Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to 100302516 associated with DPB1*0202 {Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to}, 612862 (2) -chr6 33500000 36600000 6p21.3 608645 DFNA31 Deafness, autosomal dominant 31 347737 between D6S276 and D6S273 Deafness, autosomal dominant 31, 608645 (2), Autosomal dominant -chr6 33500000 36600000 6p21.3 608710 GPA, WG Granulomatosis with polyangiitis 474168 Granulomatosis with polyangiitis, 608710 (2) -chr6 33500000 36600000 6p21.3 612735 HLA-DRB3, HLA-DR52 Major histocompatibility complex, class II, DR beta-3 HLA-DRB3 3125 -chr6 33500000 36600000 6p21.3 604519 IBD3 Inflammatory bowel disease 3 30829 {Inflammatory bowel disease 3}, 604519 (2), Autosomal dominant -chr6 33500000 36600000 6p21.3 222100 IDDM1 Insulin-dependent diabetes mellitus-1 linkage or association, with HLA {Diabetes mellitus, insulin-dependent-1}, 222100 (2), Autosomal recessive -chr6 33500000 36600000 6p21.3 137100 IGAD1 Immunoglobulin A deficiency 10986 Immunoglobulin A deficiency, 137100 (2), Autosomal dominant, Isolated cases, Autosomal recessive -chr6 33500000 36600000 6p21.3 146820 IGAT Immune response to synthetic polypeptide--IRGAT 7927 in B/D segment -chr6 33500000 36600000 6p21.3 147080 IGLP1 Immune response to synthetic polypeptides-1 7925 -chr6 33500000 36600000 6p21.3 147090 IGLP2 Immune response to synthetic polypeptides-2 7926 -chr6 33500000 36600000 6p21.3 146850 ISCW Immune suppression to streptococcal antigen 7928 HLA-linked -chr6 33500000 40500000 6p21.3-p21.2 150270 LAP Laryngeal adductor paralysis 7939 ?linkage to HLA and GLO1 ?Laryngeal adductor paralysis, 150270 (2), Autosomal dominant -chr6 33500000 36600000 6p21.3 614692 MBNP Membranous nephropathy, susceptibility to 101154649 {?Membranous nephropathy, susceptibility to}, 614692 (2) -chr6 33500000 40500000 6p21.3-p21.2 614644 MPVQTL4 Mean platelet volume quantitative trait locus 4 100887753 associated with rs210134 Mean platelet volume QTL4, 614644 (2) -chr6 33500000 36600000 6p21.3 607085 MYAS1 Myasthenia gravis with thymus hyperplasia 246750 Myasthenia gravis with thymus hyperplasia, 607085 (2) -chr6 33500000 36600000 6p21.3 272370 NKS1, EC1 Susceptibility to lysis by alloreactive natural killer cells 4819 {Lysis by alloreactive natural killer cells, susceptibility to}, 272370 (2), Autosomal recessive -chr6 33500000 36600000 6p21.3 161550 NPCA2 Nasopharyngeal carcinoma, susceptibility to, 2 100312951 associated with rs2517713 and rs2975042 {Nasopharyngeal carcinoma, susceptibility to, 2}, 161550 (2) -chr6 33500000 36600000 6p21.3 613007 PBC2 Biliary cirrhosis, primary, 2 100303716 associated with rs2856683 {Biliary cirrhosis, primary, 2}, 613007 (2) -chr6 33500000 36600000 6p21.3 600089 PBCA Pancreatic beta cell, agenesis of 7962 uniparental disomy ?Diabetes mellitus, insulin-dependent, neonatal, 600089 (2), Autosomal recessive -chr6 33500000 36600000 6p21.3 604809 PBLT Panbronchiolitis, diffuse Panbronchiolitis, diffuse, 604809 (2), Multifactorial -chr6 33500000 36600000 6p21.3 614590 PDCOS Podoconiosis, susceptibility to 100885774 {Podoconiosis, susceptibility to}, 614590 (2) -chr6 33500000 36600000 6p21.3 179450 RWS Ragweed sensitivity 7937 ?linkage or association, with HLA ?Ragweed sensitivity, 179450 (2), Autosomal dominant -chr6 33500000 36600000 6p21.31 612893 STQTL19 Stature quantitative trait locus 19 100302684 associated with rs1776897 {Stature QTL 19}, 612893 (2) -chr6 33500000 36600000 6p21.3 193200 VAMAS6 Vitiligo-associated multiple autoimmune disease susceptibility 6 246319 possible second locus on 1p31.3-p32.2 {Vitiligo-associated multiple autoimmune disease susceptibility 6}, 193200 (2), Autosomal recessive -chr6 33500000 36600000 6p21.3 603282 ZNF204 Zinc finger protein-204 ZNF204P 7754 ?pseudogene -chr6 33572551 33580295 6p21.3-p21.2 6p21.31 600516 BAK1 BCL2-antagonist/killer 1 BAK1 578 ENSG00000030110 centromeric to MHC region Bak1 (MGI:1097161) -chr6 33583698 33589025 6p21.31 6p21.31 609495 GGNBP1 Gametogenetin-binding protein 1 GGNBP1 449520 ENSG00000204188 -chr6 33621321 33696561 6pter-p21 6p21.31 147267 ITPR3 Inositol 1,4,5-triphosphate receptor, type 3 ITPR3 3710 ENSG00000096433 {Diabetes, type 1, susceptibility to}, 222100 (2), Autosomal recessive Itpr3 (MGI:96624) -chr6 33696763 33711699 6p21.31 6p21.31 614461 UQCC2, C6orf126, M19, MC3DN7 Ubiquinol-cytochrome c reductase complex assembly factor 2 UQCC2 84300 ENSG00000137288 Mitochondrial complex III deficiency, nuclear type 7, 615824 (3), Autosomal recessive Uqcc2 (MGI:1914517) -chr6 33721475 33755670 6p21 6p21.31 606993 IHPK3, INSP6K3, IP6K3 Inositol hexaphosphate kinase 3 IP6K3 117283 ENSG00000161896 pseudogene on 6p24.1 Ip6k3 (MGI:3045325) -chr6 33771212 33794273 6p21.31 6p21.31 616312 LEMD2, NET25, CTRCT42, MARUPS LEM domain-containing protein 2 LEMD2 221496 ENSG00000161904 Marbach-Rustad progeroid syndrome, 619322 (3), Autosomal dominant; Cataract 46, juvenile-onset, 212500 (3), Autosomal recessive Lemd2 (MGI:2385045) -chr6 33794672 33804002 6p21.3 6p21.31 158270 MLN Motilin MLN 4295 ENSG00000096395 -chr6 34018642 34155621 6p21.3 6p21.31 604100 GRM4, MGLUR4 Glutamate receptor, metabotropic, 4 GRM4 2914 ENSG00000124493 Grm4 (MGI:1351341) -chr6 34236872 34246230 6p21 6p21.31 600701 HMGA1, HMGIY High-mobility group AT-hook 1 HMGA1 3159 ENSG00000137309 {Type 2 diabetes mellitus, susceptibility to}, 125853 (3), Autosomal dominant Hmga1,Hmga1b (MGI:96161,MGI:96160) -chr6 34246394 34249005 6p21.3 6p21.31 611419 SMIM29, C6orf1, LBH Small integral membrane protein 29 SMIM29 221491 ENSG00000186577 opposite strand, tail-to-tail with HMGA1 AI413582 (MGI:2146839) -chr6 34279678 34392668 6p21.31 6p21.31 609228 NUDT3, DIPP, DIPP1 Nudix hydrolase 3 NUDT3 11165 ENSG00000272325 Nudt3 (MGI:1928484) -chr6 34417453 34426068 6p 6p21.31 603632 RPS10, DBA9 Ribosomal protein S10 RPS10 6204 ENSG00000124614 Diamond-Blackfan anemia 9, 613308 (3), Autosomal dominant Rps10 (MGI:1914347) -chr6 34466075 34536261 6p21 6p21.31 606512 PACSIN1, KIAA1379 Protein kinase C and casein kinase substrate in neurons 1 PACSIN1 29993 ENSG00000124507 Pacsin1 (MGI:1345181) -chr6 34537799 34556328 6p21.3 6p21.31 608144 SPDEF, PDEF SAM pointed domain-containing ETS transcription factor SPDEF 25803 ENSG00000124664 Spdef (MGI:1353422) -chr6 34587287 34696766 6p21.31 6p21.31 612217 C6orf106 Chromosome 6 open reading frame 106 ILRUN 64771 ENSG00000196821 Ilrun (MGI:106281) -chr6 34757504 34773856 6p21.31 6p21.31 603522 SNRPC Small nuclear ribonucleoprotein polypeptide C SNRPC 6631 ENSG00000124562 Snrpc (MGI:109489) -chr6 34877461 34888070 6p21.31 6p21.31 600772 TAF11, TAF2I, TAFII28 TAF11 RNA polymerase II, TATA box-binding protein-associated factor, 28kD TAF11 6882 ENSG00000064995 Taf11 (MGI:1916026) -chr6 34889254 35097991 6p21.3 6p21.31 608994 ANKS1, ODIN, KIAA0229 Ankyrin repeat and sterile alpha motif domains-containing protein 1 ANKS1A 23294 ENSG00000064999 Anks1 (MGI:2446180) -chr6 35118070 35141338 6p21.3-p21.2 6p21.31 186982 TCP11, D6S230E T-complex homolog tcp-11 TCP11 6954 ENSG00000124678 expressed only in testis at same time as ZNF76 (day 20 after birth) Tcp11 (MGI:98544) -chr6 35213955 35253078 6p21.3 6p21.31 614708 SCUBE3, SSFSC2 Signal peptide-, CUB domain-, and EGF-like domains-containing protein 3 SCUBE3 222663 ENSG00000146197 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 619184 (3), Autosomal recessive Scube3 (MGI:3045253) -chr6 35259472 35295984 6p21.3-p21.2 6p21.31 194549 ZNF76, D6S229E Zinc finger protein-76 (expressed in testis) ZNF76 7629 ENSG00000065029 same 300kb fragment as TCP11 Zfp523 (MGI:2687278) -chr6 35297817 35321770 6p21.31 6p21.31 610094 DEF6, IBP, SLAT DEF6 guanine nucleotide exchange factor DEF6 50619 ENSG00000023892 Def6 (MGI:1346328) -chr6 35342557 35428179 6p21.2-p21.1 6p21.31 600409 PPARD, NUC1 Peroxisome proliferative activated receptor, delta PPARD 5467 ENSG00000112033 Ppard (MGI:101884) -chr6 35452337 35467105 6p22-p21 6p21.31 613976 FANCE, FACE Fanconi anemia, complementation group E gene FANCE 2178 ENSG00000112039 Fanconi anemia, complementation group E, 600901 (3), Autosomal recessive Fance (MGI:1920025) -chr6 35468400 35470780 6p21.31 6p21.31 615660 RPL10A, CSA19 Ribosomal protein L10A RPL10A 4736 ENSG00000198755 Rpl10a (MGI:1343877) -chr6 35473596 35497078 6p21.3 6p21.31 603170 TEAD3, TEF5, TEAD5 TEA domain family member 3 (transcriptional enhancer factor 5) TEAD3 7005 ENSG00000007866 Tead3 (MGI:109241) -chr6 35497873 35512895 6p21.3 6p21.31 602280 TULP1, RP14, LCA15 TUB-like protein 1 TULP1 7287 ENSG00000112041 Leber congenital amaurosis 15, 613843 (3), Autosomal recessive; Retinitis pigmentosa 14, 600132 (3), Autosomal recessive Tulp1 (MGI:109571) -chr6 35573589 35728582 6p21.3-p21.2 6p21.31 602623 FKBP5, FKBP51 FK506-binding protein 5 FKBP5 2289 ENSG00000096060 {Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3) Fkbp5 (MGI:104670) -chr6 35794981 35797322 6pter-p21.1 6p21.31 120105 CLPS Colipase, pancreatic CLPS 1208 ENSG00000137392 Clps (MGI:88421) -chr6 35805351 35824069 6p21.3 6p21.31 609427 LHFPL5, TMHS, DFNB67 LHFPL tetraspan subfamily, member 5 LHFPL5 222662 ENSG00000197753 Deafness, autosomal recessive 67, 610265 (3), Autosomal recessive Lhfpl5 (MGI:1915382) -chr6 35832965 35921097 6p21.31 6p21.31 601939 SRPK1 SRSF protein kinase 1 SRPK1 6732 ENSG00000096063 Srpk1 (MGI:106908) -chr6 35943515 36024640 6p21.31 6p21.31 608480 SLC26A8, TAT1, SPGF3 Solute carrier family 26 (sulfate transporter), member 8 SLC26A8 116369 ENSG00000112053 Spermatogenic failure 3, 606766 (3), Autosomal dominant Slc26a8 (MGI:2385046) -chr6 36027710 36122963 6p21.3-p21.2 6p21.31 600289 MAPK14, CSBP1 Mitogen-activated protein kinase 14 (cytokine suppressive anti-inflammatory drug binding protein 1) MAPK14 1432 ENSG00000112062 Mapk14 (MGI:1346865) -chr6 36130512 36144520 6p21.3 6p21.31 602899 MAPK13 Mitogen-activated protein kinase 13 MAPK13 5603 ENSG00000156711 Mapk13 (MGI:1346864) -chr6 36196743 36232789 6p21.31 6p21.31 616856 BRPF3, KIAA1286 Bromodomain- and PHD finger-containing protein 3 BRPF3 27154 ENSG00000096070 Brpf3 (MGI:2146836) -chr6 36242522 36313954 6p21.31 6p21.31 612121 PNPLA1, ARCI10 Patatin-like phospholipase domain-containing protein 1 PNPLA1 285848 ENSG00000180316 Ichthyosis, congenital, autosomal recessive 10, 615024 (3), Autosomal recessive Pnpla1 (MGI:3617850) -chr6 36354087 36387668 6p21 6p21.31 605255 ETV7, TEL2, TELB ETS variant transcription factor 7 ETV7 51513 ENSG00000010030 -chr6 36442771 36491142 6p21.31 6p21.31 615932 KCTD20 Potassium channel tetramerization domain-containing protein 20 KCTD20 222658 ENSG00000112078 Kctd20 (MGI:1914239) -chr6 36493888 36547478 6p21 6p21.31 606964 STK38, NDR Serine/threonine protein kinase 38 STK38 11329 ENSG00000112079 Stk38 (MGI:2442572) -chr6 36594361 36605599 6p21 6p21.3-p21.2 603364 SRSF3, SFRS3, SRP20 Splicing factor, arginine/serine-rich, 3 SRSF3 6428 ENSG00000112081 Srsf3-ps,Srsf3 (MGI:98285,MGI:3649769) -chr6 36600000 40500000 6p21.2 615080 AD17 Alzheimer disease 17 101290498 associated with rs75932628T Alzheimer disease 17, 615080 (2) -chr6 36600000 40500000 6p21.2 616343 TP53COR1 Tumor protein p53 pathway corepressor 1, noncoding TP53COR1 102800311 -chr6 36673620 36675125 6p21.2 6p21.2 617179 PANDAR Promoter of CDKN1A antisense DNA damage-activated RNA PANDAR 101154753 ENSG00000281450 -chr6 36676462 36687331 6p21.2 6p21.2 116899 CDKN1A, WAF1, CIP1, CDKN1 Cyclin-dependent kinase inhibitor 1A (p21, Cip1) CDKN1A 1026 ENSG00000124762 Cdkn1a (MGI:104556) -chr6 36740772 36839997 6p21 6p21.2 604209 CPNE5, CPN5 Copine V CPNE5 57699 ENSG00000124772 Cpne5 (MGI:2385908) -chr6 36834885 36928963 6p21.2 6p21.2 616642 C6orf89, BRAP, AMFION Bombesin receptor-activated protein C6orf89 221477 ENSG00000198663 BC004004 (MGI:2136782) -chr6 36854828 36874802 6p21.1 6p21.2 601301 PPIL1, CYPL1, PCH14 Peptidylprolyl isomerase (cyclophilin)-like 1 PPIL1 51645 ENSG00000137168 previously assigned to chr.2 Pontocerebellar hypoplasia, type 14, 619301 (3), Autosomal recessive Ppil1 (MGI:1916066) -chr6 36968134 36987170 6p21.2 6p21.2 610449 MTCH1, PSAP Mitochondrial carrier homolog 1 MTCH1 23787 ENSG00000137409 Mtch1 (MGI:1929261) -chr6 37005654 37029071 6p21.2 6p21.2 605091 FGD2 FYVE, RhoGEF, and PH domain-containing protein 2 FGD2 221472 ENSG00000146192 Fgd2 (MGI:1347084) -chr6 37170151 37175427 6p21.2 6p21.2 164960 PIM1 Oncogene PIM1 PIM1 5292 ENSG00000137193 Pim1 (MGI:97584) -chr6 37257771 37332969 6p21.2 6p21.2 616880 TBC1D22B, C6orf197 TBC1 domain family, member 22B TBC1D22B 55633 ENSG00000065491 Tbc1d22b (MGI:2681867) -chr6 37353982 37394733 6p21.3 6p21.2 611685 RNF8, KIAA0646 Ring finger protein 8 RNF8 9025 ENSG00000112130 Rnf8 (MGI:1929069) -chr6 37433213 37482843 6p21.2 6p21.2 616189 CMTR1, MTR1, ISG95, FTSJD2, KIAA0082 CAP methyltransferase 1 CMTR1 23070 ENSG00000137200 Cmtr1 (MGI:1921407) -chr6 37630678 37697882 6p21 6p21.2 609626 MDGA1, GPIM MAM domain-containing glycosylphosphatidylinositol anchor 1 MDGA1 266727 ENSG00000112139 Mdga1 (MGI:1922012) -chr6 37819726 38154623 6pter-p22.3 6p21.2 607455 ZFAND3, TEX27 Zinc finger AN1 domain-containing protein 3 ZFAND3 60685 ENSG00000156639 Zfand3 (MGI:1096572) -chr6 38168450 38640540 6p21 6p21.2 611237 BTBD9, KIAA1880 BTB/POZ domain-containing protein 9 BTBD9 114781 ENSG00000183826 Btbd9 (MGI:1916625) -chr6 38675924 38703144 6p21.3-p21.2 6p21.2 138750 GLO1 Glyoxalase I GLO1 2739 ENSG00000124767 ~3cM proximal to HLA Glo1 (MGI:95742) -chr6 38715310 39030797 6p21 6p21.2 603337 DNAH8, HDHC9, SPGF46 Dynein, axonemal, heavy chain 8 DNAH8 1769 ENSG00000124721 Spermatogenic failure 46, 619095 (3), Autosomal recessive Dnah8 (MGI:107714) -chr6 39048780 39091302 6p21 6p21.2 138032 GLP1R Glucagon-like peptide 1 receptor GLP1R 2740 ENSG00000112164 Glp1r (MGI:99571) -chr6 39188970 39229474 6p21 6p21.2 603493 KCNK5, TASK2 Potassium channel, subfamily K, member 5 KCNK5 8645 ENSG00000164626 Kcnk5 (MGI:1336175) -chr6 39299000 39314418 6p21.2-p21.1 6p21.2 607370 KCNK17, TASK4, TALK2 Potassium channel, subfamily K, member 17 KCNK17 89822 ENSG00000124780 -chr6 39314565 39322967 6p21.2-p21.1 6p21.2 607369 KCNK16, TALK1 Potassium channel, subfamily K, member 16 KCNK16 83795 ENSG00000095981 Kcnk16 (MGI:1921821) -chr6 39329989 39725407 6p21 6p21.2 613919 KIF6 Kinesin family member 6 KIF6 221458 ENSG00000164627 Kif6 (MGI:1098238) -chr6 39792365 39904869 6p21.2 6p21.2 606627 DAAM2, KIAA0381, NPHS24 Dishevelled-associated activator of morphogenesis 2 DAAM2 23500 ENSG00000146122 Nephrotic syndrome, type 24, 619263 (3), Autosomal recessive Daam2 (MGI:1923691) -chr6 39904169 39934461 6p21.3 6p21.2 603707 MOCS1, MOCODA Molybdenum cofactor synthesis-1 MOCS1 4337 ENSG00000124615 Molybdenum cofactor deficiency A, 252150 (3), Autosomal recessive Mocs1 (MGI:1928904) -chr6 40378336 40379892 6p21.2-p21.1 6p21.2 615676 TDRG1, LINC00532 Testis development-related gene 1, noncoding TDRG1 732253 ENSG00000204091 -chr6 40391588 40587363 6p21.2 6p21.2-p21.1 612808 LRFN2, SALM1, KIAA1246 Leucine-rich repeat and fibronectin type III domain-containing protein 2 LRFN2 57497 ENSG00000156564 Lrfn2 (MGI:1917780) -chr6 40500000 46200000 6p21 608816 EJM3 Epilepsy, juvenile myoclonic 3 449018 Epilepsy, juvenile myoclonic 3, 608816 (2) -chr6 40500000 46200000 6p21 601086 LATD Laterality defects, autosomal dominant 207115 max lod 2.95 at theta = 0 -chr6 40500000 53000000 6p21.1-p12.2 607498 MGR3 Migraine with or without aura, susceptibility to, 3 337892 lod 5.78 at D6S452 {Migraine with or without aura, susceptibility to, 3}, 607498 (2), Autosomal dominant -chr6 40500000 46200000 6p21.1 132100 PPR1 Photoparoxysmal response 1 100528023 max lod at D6S2427 Photoparoxysmal response 1, 132100 (2), Autosomal dominant -chr6 40500000 46200000 6p21 611185 RLS6 Restless legs syndrome, susceptibility to, 6 100302512 associated with rs9296249 and rs9357271 {Restless legs syndrome 6}, 611185 (2) -chr6 41026894 41039220 6p21.1 6p21.1 617464 UNC5CL, ZUD unc-5 family C-terminal like protein UNC5CL 222643 ENSG00000124602 Unc5cl (MGI:1923839) -chr6 41041343 41044336 6p21.1 6p21.1 619409 TSPO2 Translocator protein 2 TSPO2 222642 ENSG00000112212 Tspo2 (MGI:1917276) -chr6 41053201 41064890 6p21 6p21.1 604797 APOBEC2 Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2 APOBEC2 10930 ENSG00000124701 Apobec2 (MGI:1343178) -chr6 41064771 41097786 6p21.1 6p21.1 614393 OARD1, C6orf130 O-acyl-ADP-ribose deacylase 1 OARD1 221443 ENSG00000124596 Oard1 (MGI:2146818) -chr6 41072973 41102402 6p21.3 6p21.1 189903 NFYA Transcription factor NF-Y, A subunit NFYA 4800 ENSG00000001167 Nfya (MGI:97316) -chr6 41149096 41158449 6p21.1 6p21.1 609714 TREML1, TLT1 Triggering receptor expressed on myeloid cells-like protein 1 TREML1 340205 ENSG00000161911 Treml1 (MGI:1918576) -chr6 41158507 41163115 6p21.2 6p21.1 605086 TREM2, PLOSL2 Triggering receptor expressed on myeloid cells 2 TREM2 54209 ENSG00000095970 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 (3), Autosomal recessive Trem2 (MGI:1913150) -chr6 41189748 41201232 6p21.1 6p21.1 609715 TREML2, TLT2 Triggering receptor expressed on myeloid cells-like protein 2 TREML2 79865 ENSG00000112195 Treml2 (MGI:2147038) -chr6 41208553 41217946 6p21.1 6p21.1 609716 TREML3, TLT3 Triggering receptor expressed on myeloid cells-like protein 3 TREML3P 340206 ENSG00000184106 -chr6 41228286 41239385 6p21 6p21.1 614664 TREML4, TLT4 Triggering receptor expressed on myeloid cells-like protein 4 TREML4 285852 ENSG00000188056 Treml4 (MGI:1923239) -chr6 41267384 41286691 6p21.1 6p21.1 605085 TREM1 Triggering receptor expressed on myeloid cells 1 TREM1 54210 ENSG00000124731 Trem1 (MGI:1930005) -chr6 41335607 41350888 6p21.1 6p21.1 604531 NCR2, LY95, NKP44 Natural cytotoxicity triggering receptor 2 (lymphocyte antigen 95, mouse, homolog of) NCR2 9436 ENSG00000096264 -chr6 41546380 41602383 6p21.1 6p21.1 608924 FOXP4 Forkhead box P4 FOXP4 116113 ENSG00000137166 Foxp4 (MGI:1921373) -chr6 41637017 41654245 6p21 6p21.1 604971 MDFI MYOD family inhibitor MDFI 4188 ENSG00000112559 Mdfi (MGI:107687) -chr6 41683977 41736222 6p21 6p21.1 600744 TFEB, TCFEB Transcription factor EB TFEB 7942 ENSG00000112561 Tfeb (MGI:103270) -chr6 41736710 41747396 6p21.3-p21.1 6p21.1 169740 PGC Preprogastricsin PGC 5225 ENSG00000096088 cen-PGG-GLO1-HLA Pgc (MGI:98909) -chr6 41770175 41779899 6p21.1 6p21.1 607744 FRS3, FRS2B, SNT2 Fibroblast growth factor receptor substrate 3 FRS3 10817 ENSG00000137218 Frs3 (MGI:2135965) -chr6 41780781 41787451 6p21.31 6p21.1 611389 PRICKLE4, C6orf49, OBTP Prickle, Drosophila, homolog of, 4 PRICKLE4 29964 ENSG00000278224 Prickle4 (MGI:2685785) -chr6 41787693 41789894 6p21.1 6p21.1 616168 TOMM6, TOM6 Translocase of outer mitochondrial membrane 6 TOMM6 100188893 ENSG00000214736 Tomm6 (MGI:1913369) -chr6 41905353 41921138 6p21.1 6p21.1 612915 MED20, TRFP Mediator complex subunit 20 MED20 9477 ENSG00000124641 Med20 (MGI:1929648) -chr6 41921498 41933045 6p21.1 6p21.1 603871 BYSL By the ribosomal protein S6 gene, Drosophila, homolog-like (bystin) BYSL 705 ENSG00000112578 Bysl (MGI:1858419) -chr6 41934932 42048893 6p21 6p21.1 123834 CCND3 Cyclin D3 CCND3 896 ENSG00000112576 pseudogene also on 6p21 Ccnd3 (MGI:88315) -chr6 42050521 42083277 6p21.1 6p21.1 609514 TAF8, TBN TATA-box binding protein-associated factor 8 TAF8 129685 ENSG00000137413 Taf8 (MGI:1926879) -chr6 42173363 42180055 6p21.1 6p21.1 600364 GUCA1A, GCAP, COD3, CORD14 Guanylate cyclase activator 1A, retina GUCA1A 2978 ENSG00000048545 Cone-rod dystrophy 14, 602093 (3), Autosomal dominant; Cone dystrophy-3, 602093 (3), Autosomal dominant Guca1a (MGI:102770) -chr6 42183283 42194955 6p21.1 6p21.1 602275 GUCA1B, GCAP2, GUCA2, RP48 Guanylate cyclase activator 1B, retina GUCA1B 2979 ENSG00000112599 Retinitis pigmentosa 48, 613827 (3) Guca1b (MGI:1194489) -chr6 42206800 42217869 6p21.1-p12.1 6p21.1 611976 MRPS10 Mitochondrial ribosomal protein S10 MRPS10 55173 ENSG00000048544 5 pseudogenes on chromosomes 1, 3, and 9 Mrps10 (MGI:1928139) -chr6 42224930 42452223 6p21.1 6p21.1 610322 TRERF1, TREP132 Transcriptional regulating factor 1 TRERF1 55809 ENSG00000124496 Trerf1 (MGI:2442086) -chr6 42563953 42693504 6p21.1 6p21.1 609134 UBR2, C6orf133, KIAA0349 Ubiquitin-protein ligase E3 component N-recognin 2 UBR2 23304 ENSG00000024048 Ubr2 (MGI:1861099) -chr6 42694508 42723038 6p21.1-cen 6p21.1 179605 PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1 Peripherin 2 PRPH2 5961 ENSG00000112619 digenic RP with ROM1 Macular dystrophy, patterned, 1, 169150 (3), Autosomal dominant; Choroidal dystrophy, central areolar 2, 613105 (3), Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal dominant, Autosomal recessive; Leber congenital amaurosis 18, 608133 (3), Digenic dominant, Autosomal dominant, Autosomal recessive; Macular dystrophy, vitelliform, 3, 608161 (3), Autosomal dominant; Retinitis pigmentosa 7 and digenic form, 608133 (3), Digenic dominant, Autosomal dominant, Autosomal recessive Prph2 (MGI:102791) -chr6 42744497 42746102 6p21.1 6p21.1 602971 TBCC, CFC Tubulin-specific chaperone C TBCC 6903 ENSG00000124659 Tbcc (MGI:1919976) -chr6 42746986 42868557 6p21.1 6p21.1 618502 BICRAL, GLTSCR1L, KIAA0240 BRD4-interacting chromatin remodeling complex-associated protein-like BICRAL 23506 ENSG00000112624 Bicral (MGI:2673855) -chr6 42879615 42889899 6p21.1 6p21.1 617417 RPL7L1 Ribosomal protein L7-like 1 RPL7L1 285855 ENSG00000146223 Rpl7l1 (MGI:1913479) -chr6 42915596 42925837 6p21.3 6p21.1 606817 PTCRA Pre-T-cell receptor, alpha-chain precursor PTCRA 171558 ENSG00000171611 Ptcra (MGI:104857) -chr6 42928001 42939293 6pter-p12 6p21.1 610774 CNPY3, TNRC5, PRAT4A, ERDA5, DEE60 Canopy 3, zebrafish, homolog of CNPY3 10695 ENSG00000137161 Developmental and epileptic encephalopathy 60, 617929 (3), Autosomal recessive Cnpy3 (MGI:1919279) -chr6 42960753 42963879 6p12 6p21.1 606628 GNMT Glycine N-methyltransferase GNMT 27232 ENSG00000124713 Glycine N-methyltransferase deficiency, 606664 (3), Autosomal recessive Gnmt (MGI:1202304) -chr6 42963864 42980223 6p21.1 6p21.1 601498 PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2 Peroxisomal biogenesis factor 6 (peroxisomal AAA-type ATPase 1) PEX6 5190 ENSG00000124587 Peroxisome biogenesis disorder 4B, 614863 (3), Autosomal dominant, Autosomal recessive; Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3), Autosomal recessive; Heimler syndrome 2, 616617 (3), Autosomal recessive Pex6 (MGI:2385054) -chr6 42980343 43017085 6p23-q12 6p21.1 143170 MEA1, MEA Male-enhanced antigen 1 MEA1 4201 ENSG00000124733 Mea1 (MGI:96957) -chr6 42984569 43012341 6p21.1 6p21.1 601646 PPP2R5D, MRD35 Protein phosphatase-2, regulatory subunit B (B56), delta isoform PPP2R5D 5528 ENSG00000112640 Mental retardation, autosomal dominant 35, 616355 (3), Autosomal dominant Ppp2r5d (MGI:2388481) -chr6 43014248 43021293 6p21.1 6p21.1 611248 KLHDC3, PEAS Kelch domain-containing protein 3 KLHDC3 116138 ENSG00000124702 Klhdc3 (MGI:2651568) -chr6 43021622 43029598 6p21.1 6p21.1 613475 RRP36, C6orf153 Ribosomal RNA-processing factor, 36 RRP36 88745 ENSG00000124541 Rrp36 (MGI:2385053) -chr6 43037616 43053944 6p21.1 6p21.1 609577 CUL7, 3M1 Cullin 7 CUL7 9820 ENSG00000044090 3-M syndrome 1, 273750 (3), Autosomal recessive Cul7 (MGI:1913765) -chr6 43054028 43060179 6p21.3 6p21.1 611822 MRPL2 Mitochondrial ribosomal protein L2 MRPL2 51069 ENSG00000112651 Mrpl2 (MGI:1351622) -chr6 43076313 43161716 6p21.1-p12.2 6p21.1 601890 PTK7 PTK7 protein tyrosine kinase 7 PTK7 5754 ENSG00000112655 Ptk7 (MGI:1918711) -chr6 43171268 43181505 6p21.1 6p21.1 600589 SRF Serum response factor SRF 6722 ENSG00000112658 Srf (MGI:106658) -chr6 43182169 43224586 6p21.1 6p21.1 607489 CUL9, PARC, KIAA0708 Cullin 9 CUL9 23113 ENSG00000112659 Cul9 (MGI:1925559) -chr6 43225628 43229480 6p21.1 6p21.1 618762 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 DNPH1 10591 ENSG00000112667 Dnph1 (MGI:3039376) -chr6 43243480 43288258 6p21.1 6p21.1 619415 TTBK1, BDTK Tau tubulin kinase 1 TTBK1 84630 ENSG00000146216 Ttbk1 (MGI:2147036) -chr6 43295709 43305537 6p21.2-p21.1 6p21.1 604995 SLC22A7, OAT2 Solute carrier family 22 (organic anion transporter), member 7 SLC22A7 10864 ENSG00000137204 Slc22a7 (MGI:1859559) -chr6 43336069 43369646 6p21.1 6p21.1 617512 ZNF318, TZF, ZFP318 Zinc finger protein 318 ZNF318 24149 ENSG00000171467 Zfp318 (MGI:1889348) -chr6 43427537 43451993 6p21.1 6p21.1 612509 ABCC10, MRP7 ATP-binding cassette, subfamily C, member 10 ABCC10 89845 ENSG00000124574 Abcc10 (MGI:2386976) -chr6 43477522 43506555 6p21.1 6p21.1 612658 TJAP1, PILT, TJP4 Tight junction-associated protein 1 TJAP1 93643 ENSG00000137221 Tjap1 (MGI:1921344) -chr6 43511831 43516925 6p21.2-p21.1 6p21.1 609775 YIPF3, KLIP1 YIP1 domain family, member 3 YIPF3 25844 ENSG00000137207 Yipf3 (MGI:106280) -chr6 43517088 44461399 6p22.3 6p21.1 610060 POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3, HLD11 Polymerase I, RNA, subunit C POLR1C 9533 ENSG00000171453 Leukodystrophy, hypomyelinating, 11, 616494 (3), Autosomal recessive; Treacher Collins syndrome 3, 248390 (3), Autosomal recessive Polr1c (MGI:103288) -chr6 43522333 43576037 6p21.1 6p21.1 607845 XPO5, KIAA1291 Exportin 5 XPO5 57510 ENSG00000124571 Xpo5 (MGI:1913789) -chr6 43576146 43620522 6p21.1-p12 6p21.1 603968 POLH, XPV Polymerase, DNA, eta POLH 5429 ENSG00000170734 Xeroderma pigmentosum, variant type, 278750 (3), Autosomal recessive Polh (MGI:1891457) -chr6 43620491 43631308 6p21.2-p21.1 6p21.1 607434 GTPBP2, JABELS GTP-binding protein 2 GTPBP2 54676 ENSG00000172432 Jaberi-Elahi syndrome, 617988 (3), Autosomal recessive Gtpbp2 (MGI:1860138) -chr6 43629539 43640940 6p21.1 6p21.1 618136 MAD2L1BP MAD2L1-binding protein MAD2L1BP 9587 ENSG00000124688 Mad2l1bp (MGI:1913841) -chr6 43645029 43672599 6p21.1 6p21.1 612648 RSPH9, CILD12 Radial spoke head 9 homolog RSPH9 221421 ENSG00000172426 Ciliary dyskinesia, primary, 12, 612650 (3) Rsph9 (MGI:1922814) -chr6 43671201 43687792 6p21.3 6p21.1 611981 MRPS18A, MRPS18-3 Mitochondrial ribosomal protein S18A MRPS18A 55168 ENSG00000096080 Mrps18a (MGI:1915815) -chr6 43770208 43786486 6p12 6p21.1 192240 VEGF, MVCD1 Vascular endothelial growth factor VEGFA 7422 ENSG00000112715 {Microvascular complications of diabetes 1}, 603933 (3) Vegfa (MGI:103178) -chr6 44113450 44127451 6p21.3 6p21.1 611827 MRPL14, MRPL32 Mitochondrial ribosomal protein L14 MRPL14 64928 ENSG00000180992 Mrpl14 (MGI:1333864) -chr6 44158810 44184400 6p12 6p21.1 604822 CAPN11 Calpain 11 CAPN11 11131 ENSG00000137225 Capn11 (MGI:1352490) -chr6 44219586 44234143 6p21.2-p21.1 6p21.1 602193 SLC29A1, ENT1 Solute carrier family 29 (nucleoside transporters), member 1 (equilibrative nucleoside transporter-1) SLC29A1 2030 ENSG00000112759 Slc29a1 (MGI:1927073) -chr6 44246193 44253882 6p21.1 6p21.1 140572 HSP90AB1, HSPCB, HSPC2, HSP90B Heas-shock protein, 90kD, alpha, class B, member 1 HSP90AB1 3326 ENSG00000096384 Hsp90ab1 (MGI:96247) -chr6 44254100 44257889 6p12.1-p11.2 6p21.1 610788 SLC35B2, PAPST1, SLL Solute carrier family 35 (3'-phosphoadenosine 5')-phosphosulfate transporter), member B2 SLC35B2 347734 ENSG00000157593 Slc35b2 (MGI:1921086) -chr6 44258165 44265550 6p21.1 6p21.1 604548 NFKBIE, IKBE Nuclear factor kappa-B inhibitor, epsilon NFKBIE 4794 ENSG00000146232 Nfkbie (MGI:1194908) -chr6 44278733 44297804 6p21.3-cen 6p21.1 186975 TCTE1 T-complex-associated-testis-expressed-1 TCTE1 202500 ENSG00000146221 Tcte1 (MGI:98640) -chr6 44297849 44313357 6p21.1 6p21.1 612035 AARS2, KIAA1270, MTALARS, COXPD8, LKENP Alanyl-tRNA synthetase 2 AARS2 57505 ENSG00000124608 Leukoencephalopathy, progressive, with ovarian failure, 615889 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 8, 614096 (3), Autosomal recessive Aars2 (MGI:2681839) -chr6 44387705 44450424 6p21 6p21.1 602868 CDC5L Cell division cycle 5-like CDC5L 988 ENSG00000096401 Cdc5l (MGI:1918952) -chr6 44809056 45378050 6p21.1 6p21.1 602947 SUPT3H, SPT3 SPT3 homolog, SAGA and STAGA complex component SUPT3H 8464 ENSG00000196284 Supt3 (MGI:1923723) -chr6 45328329 45551081 6p21 6p21.1 600211 RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD Runt-related transcription factor 2 RUNX2 860 ENSG00000124813 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3), Autosomal dominant; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3), Autosomal dominant; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3), Autosomal dominant; Cleidocranial dysplasia, 119600 (3), Autosomal dominant Runx2 (MGI:99829) -chr6 45898450 46129818 6p21.1-p12.1 6p21.1 607293 CLIC5, DFNB103 Chloride intracellular channel 5 CLIC5 53405 ENSG00000112782 mutation identified in 1 DFNB103 family ?Deafness, autosomal recessive 103, 616042 (3), Autosomal recessive Clic5 (MGI:1917912) -chr6 46129988 46146687 6p21.1 6p21.1 617000 ENPP4, NPP4, KIAA0879 Ectonucleotide pyrophosphatase/phosphodiesterase 4 ENPP4 22875 ENSG00000001561 Enpp4 (MGI:2682634) -chr6 46159181 46171005 6p21.1 6p21.1 617001 ENPP5, NPP5 Ectonucleotide pyrophosphatase/phosphodiesterase 5 ENPP5 59084 ENSG00000112796 Enpp5 (MGI:1933830) -chr6 46220730 46491969 6p12.3 6p12.3 604876 RCAN2, ZAKI4, DSCR1L1, MCIP2, CSP2 Regulator of calcineurin 2 RCAN2 10231 ENSG00000172348 Rcan2 (MGI:1858219) -chr6 46549579 46652848 6p21.1-p11.2 6p12.3 605994 CYP39A1 Cytochrome P450, subfamily XXXIXA (oxysterol 7-alpha-hydroxylase), polypeptide 1 CYP39A1 51302 ENSG00000146233 Cyp39a1 (MGI:1927096) -chr6 46652944 46678189 6p12.3 6p12.3 613725 SLC25A27, UCP4 Solute carrier family 25, member 17 SLC25A27 9481 ENSG00000153291 Slc25a27 (MGI:1921261) -chr6 46680267 46704318 6p12.3 6p12.3 611200 TDRD6 TUDOR domain-containing protein 6 TDRD6 221400 ENSG00000180113 Tdrd6 (MGI:2679727) -chr6 46700557 46735835 6p21.2-p12 6p12.3 601690 PLA2G7, PAFAH, PAFAD Phospholipase A2, group VII (platelet-activating factor acetylhydrolase) PLA2G7 7941 ENSG00000146070 Platelet-activating factor acetylhydrolase deficiency, 614278 (3), Autosomal recessive; {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Atopy, susceptibility to}, 147050 (3), Autosomal dominant Pla2g7 (MGI:1351327) -chr6 46793383 46845986 6p21.2-p21.1 6p12.3 600388 MEP1A Meprin A, alpha MEP1A 4224 ENSG00000112818 Mep1a (MGI:96963) -chr6 46997707 47042349 6p12.3 6p12.3 617430 ADGRF1, GPR110 Adhesion G protein-coupled receptor F1 ADGRF1 266977 ENSG00000153292 Adgrf1 (MGI:1924846) -chr6 47231531 47309904 6p12.3 6p12.3 605732 TNFRSF21, DR6 Tumor necrosis factor receptor superfamily, member 21 TNFRSF21 27242 ENSG00000146072 Tnfrsf21 (MGI:2151075) -chr6 47477745 47627262 6p12 6p12.3 604241 CD2AP, CMS CD2-associated protein CD2AP 23607 ENSG00000198087 Glomerulosclerosis, focal segmental, 3, 607832 (3) Cd2ap (MGI:1330281) -chr6 47698579 47722013 6p12.3 6p12.3 614268 ADGRF4, GPR115 Adhesion G protein-coupled receptor F4 ADGRF4 221393 ENSG00000153294 Adgrf4 (MGI:1925499) -chr6 47782036 47831087 6p12.3 6p12.3 609042 OPN5, GRP136, PGR12 Opsin 5 OPN5 221391 ENSG00000124818 Opn5 (MGI:2662912) -chr6 47856672 48111196 6p12.3 6p12.3 616908 PTCHD4, PTCH53, C6orf138 Patched domain-containing protein 4 PTCHD4 442213 ENSG00000244694 Ptchd4 (MGI:1920485) -chr6 49430359 49463297 6p21 6p12.3 609058 MMUT, MUT, MCM Methylmalonyl-CoA mutase MMUT 4594 ENSG00000146085 Methylmalonic aciduria, mut(0) type, 251000 (3), Autosomal recessive Mmut (MGI:97239) -chr6 49463326 49493106 6p12.3 6p12.3 611506 CENPQ Centromeric protein Q CENPQ 55166 ENSG00000031691 Cenpq (MGI:1933744) -chr6 49499922 49528077 6p12.3 6p12.3 614763 GLYATL3 Glycine N-acyltransferase-like 3 GLYATL3 389396 ENSG00000203972 Glyatl3 (MGI:3647683) -chr6 49605174 49636873 6p21.1-p11 6p12.3 180297 RHAG, RH50A, OHST, RHNR Rhesus blood group-associated glycoprotein RHAG 6005 ENSG00000112077 Overhydrated hereditary stomatocytosis, 185000 (3), Autosomal dominant; Anemia, hemolytic, Rh-null, regulator type, 268150 (3), Autosomal dominant Rhag (MGI:1202713) -chr6 49676664 49714197 6p12 6p12.3 187430 CRISP2, TPX1, TSP1 Cysteine-rich secretory protein 2 CRISP2 7180 ENSG00000124490 Crisp2 (MGI:98815) -chr6 49727375 49744387 6p12.3 6p12.3 618062 CRISP3, SGP28 Cysteine-rich secretory protein 3 CRISP3 10321 ENSG00000096006 Crisp3,Crisp1 (MGI:102552,MGI:102553) -chr6 49785659 49787284 6p21.1-p12 6p12.3 172270 PGK2 Phosphoglycerate kinase-2 (testicular PGK) PGK2 5232 ENSG00000170950 pseudogene on chr.12 Pgk2 (MGI:97563) -chr6 49833938 49877095 6p21.2-p21.1 6p12.3 601193 CRISP1, AEGL1 Cysteine-rich secretory protein 1 CRISP1 167 ENSG00000124812 Crisp4 (MGI:1925331) -chr6 49960248 49964163 6p12 6p12.3 615243 DEFB114, DEFB14 Defensin, beta, 114 DEFB114 245928 ENSG00000177684 -chr6 50713525 50773032 6p21.1-p12.1 6p12.3 610161 TFAP2D, TFAP2BL1 Transcription factor AP2-delta TFAP2D 83741 ENSG00000008197 Tfap2d (MGI:2153466) -chr6 50817691 50847618 6p12 6p12.3 601601 TFAP2B, CHAR, PDA2 Transcription factor AP-2 beta (activating enhancer-binding protein 2 beta) TFAP2B 7021 ENSG00000008196 Patent ductus arteriosus 2, 617035 (3), Autosomal dominant; Char syndrome, 169100 (3), Autosomal dominant Tfap2b (MGI:104672) -chr6 51614684 52087624 6p12.3-p12.2 6p12.3-p12.2 606702 FCYT, PKHD1, ARPKD, PKD4 Fibrocystin PKHD1 5314 ENSG00000170927 Polycystic kidney disease 4, with or without hepatic disease, 263200 (3), Autosomal recessive Pkhd1 (MGI:2155808) -chr6 51800000 69200000 6p12.2-q12 614345 MRT24 Mental retardation, autosomal recessive 24 100852402 between rs651733 and rs1508668 Mental retardation, autosomal recessive 24, 614345 (2), Autosomal recessive -chr6 52144348 52144433 6p12.2 6p12.2 611599 MIR206, MIRN206 Micro RNA 206 MIR206 406989 ENSG00000207604 Mir206 (MGI:2676881) -chr6 52146813 52151022 6p12.2 6p12.2 614933 LINCMD1 Long intergenic noncoding RNA, muscle differentiation 1 LINCMD1 101154644 -chr6 52148922 52149040 6p12.2 6p12.2 610946 MIR133B, MIRN133B Micro RNA 133B MIR133B 442890 ENSG00000199080 Mir133b (MGI:3618720) -chr6 52186374 52190637 6p12.2 6p12.2 603149 IL17A, IL17, CTLA8 Interleukin-17a IL17A 3605 ENSG00000112115 previously mapped to 2q31 Il17a (MGI:107364) -chr6 52236680 52245688 6p12 6p12.2 606496 IL17F, ML1, CANDF6 Interleukin 17F IL17F 112744 ENSG00000112116 mutation identified in 1 CANDF6 family ?Candidiasis, familial, 6, autosomal dominant, 613956 (3) Il17f (MGI:2676631) -chr6 52264014 52284741 6p12 6p12.2 602693 MCM3 Minichromosome maintenance, S. cerevisiae, homolog of, 3 MCM3 4172 ENSG00000112118 Mcm3 (MGI:101845) -chr6 52362150 52407776 6p12 6p12.2 607780 PAQR8, C6orf33, LMPB1, MPRB Progestin and ADIPOQ receptor family, member 8 PAQR8 85315 ENSG00000170915 Paqr8 (MGI:1921479) -chr6 52420341 52497197 6p12-p11 6p12.2 608815 EFHC1, FLJ10466, EJM1, JAE, EJA1 EF hand domain (C-terminal)-containing 1 EFHC1 114327 ENSG00000096093 {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3), Autosomal dominant; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3), Autosomal dominant Efhc1 (MGI:1919127) -chr6 52497404 52577059 6p12.2 6p12.2 608485 TRAM2, KIAA0057 Translocation-associated membrane protein 2 TRAM2 9697 ENSG00000065308 Tram2 (MGI:1924817) -chr6 52671098 52686587 6p12.2 6p12.2 616870 TMEM14A Transmembrane protein 14A TMEM14A 28978 ENSG00000096092 Tmem14a (MGI:1922962) -chr6 52750086 52763474 6p12.2 6p12.2 138360 GSTA2, GST2 Glutathione S-transferase A2 GSTA2 2939 ENSG00000244067 Gsta5,Gsta1,Gsta2 (MGI:1095417,MGI:3704339,MGI:95863) -chr6 52791370 52803826 6p12.2 6p12.2 138359 GSTA1 Glutathione S-transferase A1 GSTA1 2938 ENSG00000243955 Gsta5,Gsta4,Gsta1,Gsta2 (MGI:1095417,MGI:3704339,MGI:1309515,MGI:95863) -chr6 52831691 52846244 6p12.2 6p12.2 607605 GSTA5 Glutathione S-transferase, alpha-5 GSTA5 221357 ENSG00000182793 Gsta5,Gsta1,Gsta2 (MGI:1095417,MGI:3704339,MGI:95863) -chr6 52896645 52909798 6p12.2 6p12.2 605449 GSTA3 Glutathione S-transferase, alpha-3 GSTA3 2940 ENSG00000174156 Gsta5,Gsta3,Gsta1,Gsta2 (MGI:1095417,MGI:3704339,MGI:95856,MGI:95863) -chr6 52977951 52995331 6p12.2 6p12.2 605450 GSTA4 Glutathione S-transferase, alpha-4 GSTA4 2941 ENSG00000170899 -chr6 52995619 52995950 6p12.1 6p12.2 606515 RN7SK, 7SK RNA, 7SK small nuclear RN7SK 125050 ENSG00000202198 Rn7sk (MGI:103186) -chr6 53000000 69200000 6p12-q12 609026 CTRCT28, ARCC1 Cataract 28 493862 {Cataract 28, age-related cortical, susceptibility to}, 609026 (2) -chr6 53000000 57200000 6p12 164100 NYS2, NYSA Nystagmus 2, congenital, autosomal dominant 4933 Nystagmus 2, congenital, autosomal dominant, 164100 (2), Autosomal dominant -chr6 53001298 53061823 6p12.3 6p12.1 612325 ICK, MRK, KIAA0936, ECO, EJM10 Intestinal cell kinase CILK1 22858 ENSG00000112144 {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3), Autosomal dominant; Endocrine-cerebroosteodysplasia, 612651 (3), Autosomal recessive Cilk1 (MGI:1934157) -chr6 53057806 53100872 6p12.3-p11.2 6p12.1 609091 FBXO9, FBX9 F-box only protein 9 FBXO9 26268 ENSG00000112146 Fbxo9 (MGI:1918788) -chr6 53126960 53262802 6p12.1 6p12.1 603715 GCM1, GCMA Glial cells missing transcription factor 1 GCM1 8521 ENSG00000137270 Gcm1 (MGI:108045) -chr6 53267403 53348949 6p12 6p12.1 611805 ELOVL5, HELO1, SCA38 Elongation of very long chain fatty acids-like 5 ELOVL5 60481 ENSG00000012660 Spinocerebellar ataxia 38, 615957 (3), Autosomal dominant Elovl5 (MGI:1916051) -chr6 53497340 53545100 6p12 6p12.1 606857 GCLC, GLCLC Glutamate-cysteine ligase, catalytic subunit GCLC 2729 ENSG00000001084 {Myocardial infarction, susceptibility to}, 608446 (3); Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3), Autosomal recessive Gclc (MGI:104990) -chr6 53647915 53665853 6p12 6p12.1 610749 KLHL31, KLHL Kelch-like 31 KLHL31 401265 ENSG00000124743 Klhl31 (MGI:3045305) -chr6 53794496 53924124 6p12.3-p12.2 6p12.1 608195 LRRC1, LANO Leucine-rich repeat-containing protein 1 LRRC1 55227 ENSG00000137269 Lrrc1 (MGI:2442313) -chr6 54018915 54266324 6p12.1 6p12.1 614106 MLIP, C6orf142 Muscular LMNA-interating protein MLIP 90523 ENSG00000146147 Mlip (MGI:1916892) -chr6 54307791 54390150 6p12-p11.2 6p12.1 606749 TINAG, TIN1, TIN2 Tubulointerstitial nephritis antigen TINAG 27283 ENSG00000137251 Tinag (MGI:1349477) -chr6 55106468 55284697 6p12.1 6p12.1 602393 HCRTR2, OX2R Hypocretin receptor 2 HCRTR2 3062 ENSG00000137252 Hcrtr2 (MGI:2680765) -chr6 55327468 55402492 6p12.1 6p12.1 617837 GFRAL, GRAL GDNF family receptor alpha-like protein GFRAL 389400 ENSG00000187871 Gfral (MGI:3607786) -chr6 55434372 55607572 6p12.1 6p12.1 619050 HMGCLL1, ERCHL 3-hydroxy-3-methylglutaryl-CoA lyase-like protein 1 HMGCLL1 54511 ENSG00000146151 Hmgcll1 (MGI:2446108) -chr6 55753652 55875589 6p12.1 6p12.1 112265 BMP5 Bone morphogenetic protein-5 BMP5 653 ENSG00000112175 Bmp5 (MGI:88181) -chr6 56056589 56394127 6p12.3-p11.2 6p12.1 610002 COL21A1 Collagen, type XXI, alpha-1 polypeptide COL21A1 81578 ENSG00000124749 -chr6 56457995 56954829 6p12-p11 6p12.1 113810 DST, BPAG1, DMH, D6S1101, HSAN6, EBSB2 Dystonin (bullous pemphigoid antigen 1) DST 667 ENSG00000151914 ?mutation identified in 1 HSAN6 family Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3), Autosomal recessive; ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3), Autosomal recessive Dst (MGI:104627) -chr6 57088969 57170304 6p12.1 6p12.1 615708 ZNF451, COASTER Zinc finger protein 451 ZNF451 26036 ENSG00000112200 Zfp451 (MGI:2137896) -chr6 57172325 57189832 6p12.1 6p12.1 603882 BAG2 BAG cochaperone 2 BAG2 9532 ENSG00000112208 Bag2 (MGI:1891254) -chr6 57186991 57222306 6p11 6p12.1-p11.2 606144 RAB23 Ras-associated protein RAB23 RAB23 51715 ENSG00000112210 Carpenter syndrome, 201000 (3), Autosomal recessive Rab23 (MGI:99833) -chr6 57314804 57646851 6p12-p11.1 6p11.2 176636 PRIM2A Primase polypeptide 2A, 58kD PRIM2 5558 ENSG00000146143 Prim2 (MGI:97758) -chr6 58500000 59800000 6p11 608173 AITD1 Autoimmune thyroid disease, susceptibility to, 1 387578 {Autoimmune thyroid disease, susceptibility to, 1}, 608173 (2) -chr6 59800000 170805979 6q 193007 BPPV Vertigo, benign paroxysmal positional 619536 max lod at D6S1556 Vestibulopathy, familial, 193007 (2), Autosomal dominant -chr6 61542669 62286224 6q11.1 6q11.1 610487 KHDRBS2, SLM1 KH domain-containing, RNA-binding, signal transduction-associated protein 2 KHDRBS2 202559 ENSG00000112232 Khdrbs2 (MGI:2159649) -chr6 62600000 87300000 6q11-q14 613544 DEL6q11q14, C6DELq11q14 Chromosome 6q11-q14 deletion syndrome contiguous gene deletion syndrome Chromosome 6q11-q14 deletion syndrome, 613544 (4), Isolated cases -chr6 62700000 69200000 6q12 608905 ADHD3 Attention deficit-hyperactivity disorder, susceptibility to, 2 450089 {Attention deficit-hyperactivity disorder}, 143465 (2), Autosomal dominant -chr6 62700000 105000000 6q12-q16 605582 CMD1K Cardiomyopathy, dilated, 1K 65014 Cardiomyopathy, dilated, 1K, 605582 (2) -chr6 62700000 92500000 6q12-q15 614342 MRT30 Mental retardation, autosomal recessive 30 100852401 between rs4612125 and rs285651 Mental retardation, autosomal recessive 30, 614342 (2), Autosomal recessive -chr6 63275950 63567920 6q12 6q12 611470 GLULD1, LGS Glutamate-ammonia ligase (glutamine synthetase) domain-containing 1 LGSN 51557 ENSG00000146166 Lgsn (MGI:2672844) -chr6 63516439 63583587 6q12 6q12 601585 PTP4A1, HH72, PRL1 Protein tyrosine phosphatase, type 4A, 1 PTP4A1 7803 ENSG00000112245 Ptp4a1 (MGI:1277096) -chr6 63635801 63726010 6q12 6q12 607789 PHF3, KIAA0244 PHD finger protein 3 PHF3 23469 ENSG00000118482 Phf3 (MGI:2446126) -chr6 63719979 65707225 6q12 6q12 612424 EYS, RP25 Eyes shut, Drosophila, homolog of EYS 346007 ENSG00000188107 Retinitis pigmentosa 25, 602772 (3), Autosomal recessive -chr6 68635281 69389505 6q12 6q12-q13 602684 ADGRB3, BAI3 Adhesion G protein-coupled receptor B3 ADGRB3 577 ENSG00000135298 Adgrb3 (MGI:2441837) -chr6 69200000 98900000 6q13-q16.1 611572 OTSC7 Otosclerosis 7 399516 between D6S1036 and D6S300 Otosclerosis 7, 611572 (2), Autosomal dominant -chr6 69200000 164100000 6q13-q26 603175 SCZD5 Schizophrenia susceptibility locus, chromosome 6q-related max lod at D6S1626 and D6S292 {Schizophrenia}, 181500 (2), Autosomal dominant -chr6 69674009 69797009 6q13 6q13 612625 LMBRD1, LMBD1, NESI, MAHCF LMBR1 domain-containing protein 1 LMBRD1 55788 ENSG00000168216 Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3), Autosomal recessive Lmbrd1 (MGI:1915671) -chr6 69866555 70215062 6q12-q14 6q13 120165 COL19A1, D6S228E, COL9A1L Collagen XIX, alpha-1 polypeptide COL19A1 1310 ENSG00000082293 Col19a1 (MGI:1095415) -chr6 70215060 70303083 6q13 6q13 120210 COL9A1, EDM6, STL4 Collagen IX, alpha-1 polypeptide COL9A1 1297 ENSG00000112280 mutation identified in 1 EDM6 family Stickler syndrome, type IV, 614134 (3); ?Epiphyseal dysplasia, multiple, 6, 614135 (3), Autosomal dominant Col9a1 (MGI:88465) -chr6 70566929 70589568 6q13 6q13 619198 SDHAF4, SDH8, C6orf57 Succinate dehydrogenase complex assembly factor 4 SDHAF4 135154 ENSG00000154079 Sdhaf4 (MGI:1915252) -chr6 70667882 70862014 6q13 6q13 611372 SMAP1 Small ADP-ribosylation factor GTPase-activating protein 1 SMAP1 60682 ENSG00000112305 Smap1 (MGI:2138261) -chr6 70856678 70957059 6q13 6q13 607497 GLCATS, KIAA1963 UDP-glucuronyltransferase S B3GAT2 135152 ENSG00000112309 B3gat2 (MGI:2389490) -chr6 71403550 71403620 6q13 6q13 612329 MIR30A, MIRN30A Micro RNA 30A MIR30A 407029 ENSG00000207827 Mir30a (MGI:2676907) -chr6 71886549 72403144 6q12-q13 6q13 606629 RIMS1, RIM1, RIM, KIAA0340, CORD7 Regulating synaptic membrane exocytosis 1 RIMS1 22999 ENSG00000079841 Cone-rod dystrophy 7, 603649 (3), Autosomal dominant Rims1 (MGI:2152971) -chr6 72621842 73198852 6q14 6q13 607357 KCNQ5, MRD46 Potassium channel, voltage-gated, KQT-like subfamily, member 5 KCNQ5 56479 ENSG00000185760 Mental retardation, autosomal dominant 46, 617601 (3), Autosomal dominant Kcnq5 (MGI:1924937) -chr6 73241313 73310364 6q13 6q13 611688 KHDC1 KH domain-containing protein 1 KHDC1 80759 ENSG00000135314 Khdc1b (MGI:2138477) -chr6 73353062 73354275 6q13 6q13 611111 DPPA5, ESG1 Developmental pluripotency-associated gene 5 DPPA5 340168 ENSG00000203909 Dppa5a (MGI:101800) -chr6 73362657 73364170 6q13 6q13 611687 KHDC3L, C6orf221, ECAT1, HYDM2 KH domain containing 3-like, subcortical maternal complex member KHDC3L 154288 ENSG00000203908 Hydatidiform mole, recurrent, 2, 614293 (3), Autosomal recessive Khdc3 (MGI:1914241) -chr6 73368554 73369896 6q13 6q13 611689 OOEP, KHDC2 Oocyte-expressed protein OOEP 441161 ENSG00000203907 Ooep (MGI:1915218) -chr6 73394827 73417565 6q12-q13 6q13 606286 DDX43, HAGE DEAD-box helicase 43 DDX43 55510 ENSG00000080007 Ddx43 (MGI:3642857) -chr6 73423710 73452296 6q13 6q13 613973 CGAS, MB21D1, C6orf150 Cyclic GMP-AMP synthase CGAS 115004 ENSG00000164430 Cgas (MGI:2442261) -chr6 73461736 73509235 6q13 6q13 614667 MTO1, COXPD10 Mitochondrial tRNA translation optimization 1 MTO1 25821 ENSG00000135297 Combined oxidative phosphorylation deficiency 10, 614702 (3), Autosomal recessive Mto1 (MGI:1915541) -chr6 73515749 73521031 6q14 6q13 130590 EEF1A1, EF1A Eukaryotic translation elongation factor-1, alpha-1 EEF1A1 1915 ENSG00000156508 Eef1a1 (MGI:1096881) -chr6 73593378 73653991 6q14-q15 6q13 604322 SLC17A5, SIASD, SLD Solute carrier family 17 (sodium phosphate), member 5 SLC17A5 26503 ENSG00000119899 Salla disease, 604369 (3), Autosomal recessive; Sialic acid storage disorder, infantile, 269920 (3), Autosomal recessive Slc17a5 (MGI:1924105) -chr6 73696202 73828312 6q13 6q13 608859 CD109 CD109 antigen CD109 135228 ENSG00000156535 Cd109 (MGI:2445221) -chr6 75084325 75206261 6q13-q14.1 6q-q 120320 COL12A1, UCMD2, BTHLM2, EDSMYP Collagen, type XII, alpha-1 COL12A1 1303 ENSG00000111799 mutation identified in 1 UCMD2 family Bethlem myopathy 2, 616471 (3), Autosomal dominant; ?Ullrich congenital muscular dystrophy 2, 616470 (3), Autosomal recessive Col12a1 (MGI:88448) -chr6 75200000 83200000 6q14.1 610685 SHFLD2 Split-hand/foot malformation with long bone deficiency 2 791123 between rs623155 and rs1547251 Split-hand/foot malformation with long bone deficiency 2, 610685 (2) -chr6 75237674 75250297 6q12 6q14.1 123996 COX7A2 Cytochrome c oxidase, subunit VIIa, polypeptide-2, liver COX7A2 1347 ENSG00000112695 previously thought to be on chr.4 Cox7a2 (MGI:1316715) -chr6 75252923 75284791 6q14.1 6q14.1 611028 TMEM30A, CDC50A Transmembrane protein 30A TMEM30A 55754 ENSG00000112697 Tmem30a (MGI:106402) -chr6 75291857 75493799 6q14.1 6q14.1 607307 FILIP, KIAA1275 Filamin A-interacting protein FILIP1 27145 ENSG00000118407 Filip1 (MGI:1917848) -chr6 75601863 75718280 6q13 6q14.1 605003 SENP6, SSP1, SUSP1 Sentrin-specific protease family, member 6 SENP6 26054 ENSG00000112701 Senp6 (MGI:1922075) -chr6 75749202 75919536 6q13 6q14.1 600970 MYO6, DFNA22, DFNB37 Myosin VI MYO6 4646 ENSG00000196586 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3), Autosomal dominant; Deafness, autosomal dominant 22, 606346 (3), Autosomal dominant; Deafness, autosomal recessive 37, 607821 (3), Autosomal recessive Myo6 (MGI:104785) -chr6 75921113 76072661 6q13-q15 6q14.1 602870 IMPG1, IPM150, VMD4 Interphotoreceptor matrix proteoglycan-1 IMPG1 3617 ENSG00000112706 Macular dystrophy, vitelliform, 4, 616151 (3), Autosomal dominant, Autosomal recessive Impg1 (MGI:1926876) -chr6 77460923 77463490 6q13 6q14.1 182131 HTR1B 5-hydroxytryptamine (serotonin) receptor-1B HTR1B 3351 ENSG00000135312 Htr1b (MGI:96274) -chr6 77650273 77927044 6q14.1 6q14.1 618417 MEI4 Meiotic double-stranded break formation protein 4 MEI4 101928601 ENSG00000269964 Mei4 (MGI:1922283) -chr6 78867485 78979410 6q14.1 6q14.1 615375 IRAK1BP1, SIMPL Interleukin 1 receptor-associated kinase 1-binding protein 1 IRAK1BP1 134728 ENSG00000146243 Irak1bp1 (MGI:1929475) -chr6 78934418 79078293 6q14 6q14.1 612870 PHIP, CHUJANS, DIDOD Pleckstrin homology domain-interacting protein PHIP 55023 ENSG00000146247 Chung-Jansen syndrome, 617991 (3), Autosomal dominant Phip (MGI:1932404) -chr6 79201244 79234681 6q14.1 6q14.1 604502 HMGN3, TRIP7 High-mobility group nucleosomal binding protein 3 (thyroid hormone receptor interactor 7) HMGN3 9324 ENSG00000118418 Hmgn3 (MGI:2138069) -chr6 79484990 79537429 6q14.1 6q14.1 611408 LCA5, C6orf152 Lebercilin LCA5 167691 ENSG00000135338 Leber congenital amaurosis 5, 604537 (3), Autosomal recessive Lca5 (MGI:1923032) -chr6 79537632 79703658 6q14.1 6q14.1 615678 SH3BGRL2 SH3 domain-binding glutamic acid-rich protein-like protein 2 SH3BGRL2 83699 ENSG00000198478 Sh3bgrl2 (MGI:1915350) -chr6 79914813 79947552 6q14 6q14.1 605512 ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34 Elongation of very long chain fatty acids 4 ELOVL4 6785 ENSG00000118402 Spinocerebellar ataxia 34, 133190 (3), Autosomal dominant; Stargardt disease 3, 600110 (3), Autosomal dominant; Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3), Autosomal recessive Elovl4 (MGI:1933331) -chr6 80004146 80042650 6q13-q21 6q14.1 604092 TTK, MPS1L1, PYT TTK protein kinase TTK 7272 ENSG00000112742 Ttk (MGI:1194921) -chr6 80106609 80469087 6q14 6q14.1 248611 BCKDHB, E1B Branched chain keto acid dehydrogenase E1, beta polypeptide BCKDHB 594 ENSG00000083123 Maple syrup urine disease, type Ib, 248600 (3), Autosomal recessive Bckdhb (MGI:88137) -chr6 81745729 81752680 6q14 6q14.1 611357 TENT5A, FAM46A, C6orf37, OI18 Terminal nucleotidyltransferase 5A TENT5A 55603 ENSG00000112773 Osteogenesis imperfecta, type XVIII, 617952 (3), Autosomal recessive Tent5a (MGI:2670964) -chr6 82169986 82247746 6q13-q14 6q14.1 606457 IBTK Inhibitor of Bruton agammaglobulinemia tyrosine kinase IBTK 25998 ENSG00000005700 Ibtk (MGI:1918677) -chr6 82362982 82367419 6q14-q15 6q14.1 190920 TPBG Trophoblast glycoprotein TPBG 7162 ENSG00000146242 Tpbg (MGI:1341264) -chr6 82880833 83065840 6q14.1 6q14.1 612495 UBE2CBP, H10BH Ubiquitin-conjugating enzyme E2C-binding protein UBE3D 90025 ENSG00000118420 Ube2cbp (MGI:1917598) -chr6 83067670 83171350 6q14.1 6q14.1 616823 DOP1A, DOPEY1, DOP1, KIAA1117 DOP1 leucine zipper-like protein A DOP1A 23033 ENSG00000083097 Dop1a (MGI:1289294) -chr6 83150727 83193899 6q12 6q14.1 172100 PGM3, AGM1, IMD23 Phosphoglucomutase-3 (N-acetylglucosamine-phosphate mutase 1) PGM3 5238 ENSG00000013375 Immunodeficiency 23, 615816 (3), Autosomal recessive Pgm3 (MGI:97566) -chr6 83210401 83431077 6q12 6q14.2 154250 ME1 Malic enzyme, cytoplasmic ME1 4199 ENSG00000065833 Me1 (MGI:97043) -chr6 83552884 83709402 6q14.2 6q14.2 607923 SNAP91, AP180, KIAA0656 Synaptosomal-associated protein, 91kD SNAP91 9892 ENSG00000065609 Snap91 (MGI:109132) -chr6 83853359 83857514 6q14.2 6q14.2 609891 RIPPLY2, C6orf59, SCDO6 Ripply2, zebrafish, homolog of RIPPLY2 134701 ENSG00000203877 mutation identified in 1 SCDO6 family ?Spondylocostal dysostosis 6, 616566 (3), Autosomal recessive Ripply2 (MGI:2685968) -chr6 83859688 83967422 6q14-q15 6q14.2 608343 CYB5R4, NCB5OR Cytochrome b5 reductase 4 CYB5R4 51167 ENSG00000065615 Cyb5r4 (MGI:2386848) -chr6 84032620 84146277 6q14.2 6q14.2 615410 MRAP2, C6orf117, BMIQ18 Melanocortin 2 receptor accessory protein 2 MRAP2 112609 ENSG00000135324 mutation identified in 1 BMIQ18 individual {?Obesity, susceptibility to, BMIQ18}, 615457 (3), Autosomal dominant Mrap2 (MGI:3609239) -chr6 84124249 84227888 6q14.2-q14.3 6q14.2-q14.3 610201 CEP162, KIAA1009 Centrosomal protein, 162kD CEP162 22832 ENSG00000135315 Cep162 (MGI:1925343) -chr6 84200000 105000000 6q14-q16 608988 ATFB2 Atrial fibrillation, familial, 2 619478 max lod between D6S286 and D6S1021 Atrial fibrillation, familial, 2, 608988 (2) -chr6 84732495 84764597 6q14.3 6q14.3 604613 TBX18, CAKUT2 T-box 18 TBX18 9096 ENSG00000112837 Congenital anomalies of kidney and urinary tract 2, 143400 (3), Autosomal dominant Tbx18 (MGI:1923615) -chr6 85450082 85495783 6q14-q21 6q14.3 129190 NT5E, NT5 5' nucleotidase, ecto (CD73) NT5E 4907 ENSG00000135318 Calcification of joints and arteries, 211800 (3), Autosomal recessive Nt5e (MGI:99782) -chr6 85505495 85593857 6q14.3 6q14.3 616105 SNX14, SCAR20 Sorting nexin 14 SNX14 57231 ENSG00000135317 Spinocerebellar ataxia, autosomal recessive 20, 616354 (3), Autosomal recessive Snx14 (MGI:2155664) -chr6 85607783 85643861 6q14.3 6q14.3 616686 SYNCRIP, NSAP1, GRYRBP, HNRNPQ Synaptotagmin-binding cytoplasmic RNA-interacting protein SYNCRIP 10492 ENSG00000135316 Syncrip (MGI:1891690) -chr6 85677006 85678732 6q15 6q14.3 613263 SNHG5, U50HG Small nucleolar RNA host gene 5 SNHG5 387066 ENSG00000203875 Snhg5 (MGI:1919905) -chr6 85677293 85677367 6q15 6q14.3 613117 SNORD50A, RNU50 Small nucleolar RNA, C/D box, 50A SNORD50A 26799 -chr6 85677588 85677658 6q15 6q14.3 613264 SNORD50B Small nucleolar RNA, C/D box SNORD50B 692088 ENSG00000275072 -chr6 86936918 87020067 6q14-q15 6q14.3 182132 HTR1E 5-hydroxytryptamine (serotonin) receptor-1E HTR1E 3354 ENSG00000168830 -chr6 87085497 87095105 6q12-q21 6q14.3 118850 CGA Chorionic gonadotropin, alpha polypeptide CGA 1081 ENSG00000135346 shared with LH, FSH, TSH Cga (MGI:88390) -chr6 87155564 87265942 6q14.3 6q14.3 616213 ZNF292, ZFP292, KIAA0530, MRD64 Zinc finger protein 292 ZNF292 23036 ENSG00000188994 Intellectual developmental disorder, autosomal dominant 64, 619188 (3), Autosomal dominant Zfp292 (MGI:1353423) -chr6 87282977 87329277 6q15 6q14-q15 611921 GJB7, CX25 Gap junction protein, beta-7 GJB7 375519 ENSG00000164411 -chr6 87472973 87512335 6q15 6q15 605634 SLC35A1, CST, CDG2F Solute carrier family 35 (CMP-sialic acid transporter), member 1 SLC35A1 10559 ENSG00000164414 Congenital disorder of glycosylation, type IIf, 603585 (3), Autosomal recessive Slc35a1 (MGI:1345622) -chr6 87513937 87589995 6q16.1 6q15 611524 RARS2, RARSL, PCH6 Arginyl-tRNA synthetase 2 RARS2 57038 ENSG00000146282 Pontocerebellar hypoplasia, type 6, 611523 (3), Autosomal recessive Rars2 (MGI:1923596) -chr6 87590127 87677823 6q15 6q15 604972 ORC3, ORC3L, LAT Origin recognition complex, subunit 3 ORC3 23595 ENSG00000135336 Orc3 (MGI:1354944) -chr6 87674859 87702232 6q15 6q15 615165 AKIRIN2 Akirin 2 AKIRIN2 55122 ENSG00000135334 Akirin2 (MGI:1889364) -chr6 88046906 88066837 6q15 6q15 612739 SPACA1, SAMP32 Sperm acrosome-associated 1 SPACA1 81833 ENSG00000118434 Spaca1 (MGI:1914902) -chr6 88139863 88167348 6q14-q15 6q15 114610 CNR1 Cannabinoid receptor-1, brain CNR1 1268 ENSG00000118432 Cnr1 (MGI:104615) -chr6 88609896 88963617 6q16 6q15 603512 RNGTT, HCE1, CAP1A RNA guanylyltransferase and 5'-phosphatase RNGTT 8732 ENSG00000111880 Rngtt (MGI:1329041) -chr6 89080748 89085159 6q15 6q15 606714 PNRC1, PROL2 Proline-rich nuclear receptor coactivator 1 PNRC1 10957 ENSG00000146278 Pnrc1 (MGI:1917838) -chr6 89094817 89165564 6q15 6q15 615913 PM20D2, ACY1L2 Peptidase M20 domain-containing 2 PM20D2 135293 ENSG00000146281 Pm20d2 (MGI:2685270) -chr6 89177503 89231287 6q14-q21 6q15 137161 GABRR1 Gamma-aminobutyric acid (GABA) A receptor, rho-1 GABRR1 2569 ENSG00000146276 Gabrr1 (MGI:95625) -chr6 89254463 89315298 6q14-q21 6q15 137162 GABRR2 Gamma-aminobutyric acid (GABA) A receptor, rho-2 GABRR2 2570 ENSG00000111886 Gabrr2 (MGI:95626) -chr6 89326624 89353154 6q15 6q15 616175 UBE2J1, UBC6E Ubiquitin-conjugating enzyme E2J 1 UBE2J1 51465 ENSG00000198833 Ube2j1 (MGI:1926245) -chr6 89363508 89412272 6q15-q16 6q15 608268 RRAGD, RAGD RAS-related GTP-binding protein D RRAGD 58528 ENSG00000025039 Rragd (MGI:1098604) -chr6 89433151 89633833 6q14-q16 6q15 610583 ANKRD6, KIAA0957 Ankyrin repeat domain-containing protein 6 ANKRD6 22881 ENSG00000135299 Ankrd6 (MGI:2154278) -chr6 89642497 89828020 6q15 6q15 618200 MDN1 Midasin AAA Atpase 1 MDN1 23195 ENSG00000112159 Mdn1 (MGI:1926159) -chr6 89829879 89874435 6q15 6q15 606880 CASP8AP2, FLASH Caspase 8-associated protein 2 CASP8AP2 9994 ENSG00000118412 Casp8ap2 (MGI:1349399) -chr6 89894468 89896119 6q15 6q15 611924 GJA10, CX62 Gap junction protein, alpha-10 GJA10 84694 ENSG00000135355 Gja10 (MGI:1339969) -chr6 89926527 90296842 6q15 6q15 605394 BACH2, IMD60 BTB and CNC homology 2 BACH2 60468 ENSG00000112182 Immunodeficiency 60, 618394 (3), Autosomal dominant Bach2 (MGI:894679) -chr6 90513578 90587071 6q14-q21 6q15 602614 MAP3K7, TAK1, CSCF, FMD2 Mitogen-activated protein kinase kinase kinase 7 MAP3K7 6885 ENSG00000135341 Frontometaphyseal dysplasia 2, 617137 (3), Autosomal dominant; Cardiospondylocarpofacial syndrome, 157800 (3), Autosomal dominant Map3k7 (MGI:1346877) -chr6 93240019 93419583 6q16.1 6q16.1 602190 EPHA7, HEK11 Ephrin receptor EphA7 EPHA7 2045 ENSG00000135333 Epha7 (MGI:95276) -chr6 95577534 95609451 6q16 6q16.1 612327 MANEA, ENDO Mannosidase, endo-alpha MANEA 79694 ENSG00000172469 Manea (MGI:2444484) -chr6 96015973 96215611 6q16 6q16.1 606865 FUT9 Fucosyltransferase 9 FUT9 10690 ENSG00000172461 Fut9 (MGI:1330859) -chr6 96521805 96555275 6q16.1 6q16.1 613372 UFL1, KIAA0776, NLBP UFM1-specific ligase 1 UFL1 23376 ENSG00000014123 Ufl1 (MGI:1914740) -chr6 96562573 96618625 6q16.1-q16.3 6q16.1 605126 FHL5, ACT Four-and-a-half LIM domains 5 FHL5 9457 ENSG00000112214 Fhl5 (MGI:1913192) -chr6 96794124 96837476 6q16.1-q16.3 6q16.1 606915 GPR63 G protein-coupled receptor 63 GPR63 81491 ENSG00000112218 Gpr63 (MGI:2135884) -chr6 96889314 96897890 6q16.1 6q16.1 611776 NDUFAF4, HRPAP20, C6orf66, MC1DN15 NADH-ubiquinone oxidoreductase complex assembly factor 4 NDUFAF4 29078 ENSG00000123545 Mitochondrial complex I deficiency, nuclear type 15, 618237 (3), Autosomal recessive Ndufaf4 (MGI:1915743) -chr6 97142160 97283436 6q16.1 6q16.1 615614 MMS22L, C6orf167 MMS22-like protein MMS22L 253714 ENSG00000146263 Mms22l (MGI:2684980) -chr6 98830140 98831699 6q16.1 6q16.1 616328 PNKY Long intergenic noncoding RNA Pinky 105447646 -chr6 98834573 98839457 6q16 6q16.1 600494 POU3F2, OCT7 POU domain, class 3, transcription factor 2 POU3F2 5454 ENSG00000184486 Pou3f2 (MGI:101895) -chr6 98868534 98948005 6q16.1-q16.3 6q16.1-q16.2 605654 FBXL4, FBL4, MTDPS13 F-box and leucine-rich repeat protein 4 FBXL4 26235 ENSG00000112234 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3), Autosomal recessive Fbxl4 (MGI:2140367) -chr6 98900000 117900000 6q16.2-q22.1 611944 LMPHM2 Lymphatic malformation 2 100188865 max lod at D6S1671 Lymphatic malformation 2, 611944 (2), Autosomal dominant -chr6 99369400 99394222 6q16.2 6q16.2 605196 COQ3 Coenzyme Q3, methyltransferase COQ3 51805 ENSG00000132423 Coq3 (MGI:101813) -chr6 99398049 99426305 6q16.2 6q16.2 616653 PNISR, SRRP130, SFRS18 PNN-interacting serine/arginine-rich protein PNISR 25957 ENSG00000132424 Pnisr (MGI:1913875) -chr6 99432324 99515769 6q16.2 6q16.2 618439 USP45, LCA19 Ubiquitin-specific protease 45 USP45 85015 ENSG00000123552 mutation identified in 1 LCA19 patient ?Leber congenital amaurosis 19, 618513 (3), Autosomal recessive Usp45 (MGI:101850) -chr6 99542386 99568813 6q21 6q16.2 123838 CCNC Cyclin C CCNC 892 ENSG00000112237 Ccnc (MGI:1858199) -chr6 99592884 99593338 6q16.2 6q16.2 616842 DHS6S1, MCDR1, PBCRA DNase1 hypersensitivity, chromosome 6, site 1 111365204 upstream of PRDM13 and CCNC Chorioretinal atrophy, progressive bifocal, 600790 (3), Autosomal dominant; Macular dystrophy 1, North Carolina type, 136550 (3), Autosomal dominant -chr6 99606832 99615561 6q16.2 6q16.2 616741 PRDM13 PR domain-containing protein 13 PRDM13 59336 ENSG00000112238 Prdm13 (MGI:2448528) -chr6 99918518 99994222 6q16.2-q21 6q16.2 606111 MCHR2, MCH2R, SLT, MCH2 Melanin-concentrating hormone receptor 2 MCHR2 84539 ENSG00000152034 -chr6 100000000 125800000 6q16.3-q22.31 613828 GEFSP8 Generalized epilepsy with febrile seizures plus, type 8 100653381 between D6S962 and D6S287 Epilepsy, generalized, with febrile seizures plus, type 8, 613828 (2) -chr6 100385008 100464928 6q16.3-q21 6q16.3 603128 SIM1 Single-minded, Drosophila, homolog of, 1 SIM1 6492 ENSG00000112246 Sim1 (MGI:98306) -chr6 100508193 100884454 6q16.3 6q16.3 614217 ASCC3, p200 Activating signal cointegrator 1 complex, subunit 3 ASCC3 10973 ENSG00000112249 Ascc3 (MGI:1925237) -chr6 101393707 102070082 6q21 6q16.3 138244 GRIK2, GLUR6, MRT6 Glutamate receptor, ionotropic, kainate 2 GRIK2 2898 ENSG00000164418 Mental retardation, autosomal recessive, 6, 611092 (3), Autosomal recessive Grik2 (MGI:95815) -chr6 104728093 104859918 6q21 6q16.3 610876 HACE1, KIAA1320, SPPRS HECT domain- and ankyrin repeat-containing E3 ubiquitin protein ligase 1 HACE1 57531 ENSG00000085382 Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive Hace1 (MGI:2446110) -chr6 104936998 105083331 6q21 6q16-q21 611044 LIN28B lin-28 homolog B LIN28B 389421 ENSG00000187772 Lin28b (MGI:3584032) -chr6 105000000 114200000 6q21 606325 HTX3 Heterotaxy, visceral, 3, autosomal 116629 ?Heterotaxy, visceral, 3, autosomal, 606325 (2) -chr6 105000000 114200000 6q21 601666 IDDM15 Insulin-dependent diabetes mellitus-15 3414 {Diabetes mellitus, insulin-dependent, 15}, 601666 (2) -chr6 105000000 114200000 6q21 606460 LGV2 Longevity 2 100329168 associated with rs2802292 [Longevity 2], 606460 (2) -chr6 105000000 114200000 6q21 601349 MCOPS8, MMEP Microphthalmia, syndromic 8 translocation with 13q12 Microphthalmia, syndromic 8, 601349 (2), ?Autosomal dominant -chr6 105000000 114200000 6q21 612882 MENAQ2 Menarche, age at, QTL2 100302562 associated with rs7759938 {Menarche, age at, QTL2}, 612882 (2) -chr6 105000000 130000000 6q21-q22 608852 PLF Pulmonary function 450095 close to D6S281 {Pulmonary function}, 608852 (2) -chr6 105096821 105137156 6q21 6q21 604577 BVES, HBVES, POPDC1, LGMDR25 Blood vessel epicardial substance BVES 11149 ENSG00000112276 Muscular dystrophy, limb-girdle, autosomal recessive 25, 616812 (3), Autosomal recessive Bves (MGI:1346013) -chr6 105157899 105180013 6q21 6q21 605824 POPDC3, POP3, LGMDR26 Popeye domain-containing protein 3 POPDC3 64208 ENSG00000132429 Muscular dystrophy, limb-girdle, autosomal recessive 26, 618848 (3), Autosomal recessive Popdc3 (MGI:1930153) -chr6 105273217 105403101 6q22 6q21 600400 PREP Prolyl endopeptidase PREP 5550 ENSG00000085377 Prep (MGI:1270863) -chr6 106046728 106109937 6q21-q22.1 6q21 603423 PRDM1, BLIMP1 PR domain-containing protein 1 (B-lymphocyte-induced maturation protein 1) PRDM1 639 ENSG00000057657 Prdm1 (MGI:99655) -chr6 106184475 106325788 6q21 6q21 604261 ATG5, APG5, APG5L, ASP, SCAR25 Autophagy related 5 ATG5 9474 ENSG00000057663 mutation identified in one SCAR25 family ?Spinocerebellar ataxia, autosomal recessive 25, 617584 (3), Autosomal recessive Atg5 (MGI:1277186) -chr6 106360716 106572016 6q21 6q21 601797 AIM1, ST4 Absent in melanoma 1 CRYBG1 202 ENSG00000112297 Crybg1 (MGI:109544) -chr6 106559236 106630920 6q21 6q21 610502 RTN4IP1, NIMP, OPA10 Reticulon 4-interacting protein 1 RTN4IP1 84816 ENSG00000130347 Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive Rtn4ip1 (MGI:2178759) -chr6 106629577 106668416 6q21 6q21 617209 QRSL1, GATA, COXPD40 Glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like protein 1 QRSL1 55278 ENSG00000130348 Combined oxidative phosphorylation deficiency 40, 618835 (3), Autosomal recessive Qrsl1 (MGI:1923813) -chr6 106969830 106976854 6q21 6q21 600074 CD24 CD24 antigen CD24 100133941 ENSG00000272398 pseudogenes at 15q21-q22; Yq11 Cd24a (MGI:88323) -chr6 107028198 107051585 6q21 6q21 618583 MTRES1, C6orf203, HSPC230 Mitochondrial transcription rescue factor 1 MTRES1 51250 ENSG00000130349 Mtres1 (MGI:1915101) -chr6 107065181 107115514 6q21 6q21 616374 BEND3, KIAA1553 BEN domain-containing protein 3 BEND3 57673 ENSG00000178409 Bend3 (MGI:2677212) -chr6 107152556 107459680 6q21 6q21 610564 PDSS2, DLP1, C6orf210, COQ10D3 Prenyl diphosphate synthase, subunit 2 PDSS2 57107 ENSG00000164494 Coenzyme Q10 deficiency, primary, 3, 614652 (3), Autosomal recessive Pdss2 (MGI:1918615) -chr6 107490103 107661305 6q21 6q21 613667 SOBP, JXC1, MRAMS Sine oculis-binding protein homolog SOBP 55084 ENSG00000112320 Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3), Autosomal recessive Sobp (MGI:1924427) -chr6 107867755 107958207 6q21 6q21 608648 SEC63, PCLD2 SEC63 homolog, protein translocation regulator SEC63 11231 ENSG00000025796 Polycystic liver disease 2, 617004 (3), Autosomal dominant Sec63 (MGI:2155302) -chr6 108041408 108074740 6q21 6q21 607649 OSTM1, GL, OPTB5 Osteopetrosis associated transmembrane protein 1 (grey-lethal, mouse, homolog of) OSTM1 28962 ENSG00000081087 Osteopetrosis, autosomal recessive 5, 259720 (3), Autosomal recessive Ostm1 (MGI:2655574) -chr6 108166021 108188808 6q21 6q21 603849 NR2E1, TLX Nuclear receptor subfamily 2, group E, member 1 (tailless, Drosophila, homolog of) NR2E1 7101 ENSG00000112333 Nr2e1 (MGI:1100526) -chr6 108211221 108261039 6q21 6q21 605930 SNX3 Sorting nexin 3 SNX3 8724 ENSG00000112335 t(6;13)(q21;q12) Snx3 (MGI:1860188) -chr6 108294880 108526000 6q21 6q21 617469 AFG1L, AFG1, LACE1 AFG1-like ATPase AFG1L 246269 ENSG00000135537 Afg1l (MGI:2148801) -chr6 108559824 108684773 6q21 6q21 602681 FOXO3A, FOXO3, FKHRL1 Forkhead box O3A FOXO3 2309 ENSG00000118689 Foxo3 (MGI:1890081) -chr6 108848409 108989089 6q21 6q21 618424 ARMC2, SPGF38 Armadillo repeat-containing protein 2 ARMC2 84071 ENSG00000118690 Spermatogenic failure 38, 618433 (3), Autosomal recessive Armc2 (MGI:1916449) -chr6 108984308 109094845 6q21 6q21 606103 SESN1, SEST1, PA26 Sestrin 1 SESN1 27244 ENSG00000080546 Sesn1 (MGI:2155278) -chr6 109366513 109382466 6q21 6q21 603356 CD164, DFNA66 CD164 antigen CD164 8763 ENSG00000135535 mutation identified in 1 DFNA66 family ?Deafness, autosomal dominant 66, 616969 (3), Autosomal dominant Cd164 (MGI:1859568) -chr6 109440720 109443921 6q21 6q21 603498 SMPD2, NSMASE1 Sphingomyelin phosphodiesterase 2 SMPD2 6610 ENSG00000135587 Smpd2 (MGI:1278330) -chr6 109444061 109465967 6q16.1 6q21 607129 MICAL1, NICAL, MICAL Microtubule-associated monooxygenase, calponin and LIM domains-containing 1 MICAL1 64780 ENSG00000135596 Mical1 (MGI:2385847) -chr6 109462593 109483218 6q21 6q21 614064 ZBTB24, PATZ2, ZNF450, KIAA0441, ICF2 Zinc finger- and BTB domain-containing protein 24 ZBTB24 9841 ENSG00000112365 Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3), Autosomal recessive Zbtb24 (MGI:3039618) -chr6 109492854 109691201 6q21 6q21 615358 AK9 Adenylate kinase 9 AK9 221264 ENSG00000155085 Ak9 (MGI:2685080) -chr6 109691295 109825430 6q21 6q21 609390 FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP FIG4 phosphoinositide 5-phosphatase FIG4 9896 ENSG00000112367 mutation identified in 1 BTOP family Yunis-Varon syndrome, 216340 (3), Autosomal recessive; ?Polymicrogyria, bilateral temporooccipital, 612691 (3), Autosomal recessive; Amyotrophic lateral sclerosis 11, 612577 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 4J, 611228 (3), Autosomal recessive Fig4 (MGI:2143585) -chr6 109978310 109980719 6q21-q22.1 6q21 600553 GPR6 G protein-coupled receptor-6 GPR6 2830 ENSG00000146360 Gpr6 (MGI:2155249) -chr6 110099818 110179669 6q21-q22 6q21 605035 WASF1, WAVE, WAVE1, SCAR1, NEDALVS WAS protein family member 1 WASF1 8936 ENSG00000112290 Neurodevelopmental disorder with absent language and variable seizures, 618707 (3), Autosomal dominant Wasf1 (MGI:1890563) -chr6 110180426 110232231 6q22.1 6q21 605585 CDC40, PRP17, PCH15 Cell division cycle 40 CDC40 51362 ENSG00000168438 mutation identified in 1 PCH15 patient ?Pontocerebellar hypoplasia, type 15, 619302 (3), Autosomal recessive Cdc40 (MGI:1918963) -chr6 110388320 110415574 6q21 6q21 124450 DDO, DASOX D-aspartate oxidase DDO 8528 ENSG00000203797 Ddo (MGI:1925528) -chr6 110424586 110476673 6q21 6q21 608276 SLC22A16, FLIPT2, CT2 Solute carrier family 22 (organic cation transporter), member 16 SLC22A16 85413 ENSG00000004809 Slc22a16 (MGI:1918090) -chr6 110609977 110816530 6q21 6q21 614720 CDK19, KIAA1028, DEE87 Cyclin-dependent kinase 19 CDK19 23097 ENSG00000155111 Developmental and epileptic encephalopathy 87, 618916 (3), Autosomal dominant Cdk19 (MGI:1925584) -chr6 110814616 110895712 6q21-q22 6q21 180980 AMD1 S-adenosylmethionine decarboxylase-1 AMD1 262 ENSG00000123505 pseudogene AMD2 on Xq28 Amd2,Amd1 (MGI:88004,MGI:1333111) -chr6 110958705 110967871 6q21 6q21 611784 GTF3C6, C6orf51 General transcription factor 3C, polypeptide 6 GTF3C6 112495 ENSG00000155115 Gtf3c6 (MGI:1914621) -chr6 110982037 111028262 6q21 6q21 618471 RPF2, BXDC1 Ribosome production factor 2, S. cerevisiae, homolog of RPF2 84154 ENSG00000197498 Rpf2 (MGI:1914489) -chr6 111087502 111231193 6q21-q22 6q21 607550 SLC16A10, TAT1 Solute carrier family 16 (monocarboxylic acid transporter), member 10 SLC16A10 117247 ENSG00000112394 Slc16a10 (MGI:1919722) -chr6 111259278 111280004 6q21 6q21 617331 MFSD4B, NAGLT1, Kiaa1919 Major facilitator superfamily domain-containing protein 4B MFSD4B 91749 ENSG00000173214 Mfsd4b1,Mfsd4b2,Mfsd4b5,Mfsd4b3-ps (MGI:2446139,MGI:1919295,MGI:2143575,MGI:3773841) -chr6 111299032 111483710 6q21 6q21 602776 REV3L, POLZ, REV3 Rev-3, yeast, homolog-like (polymerase, DNA, zeta) REV3L 5980 ENSG00000009413 Rev3l (MGI:1337131) -chr6 111555380 111605877 6q21 6q21 607043 TRAF3IP2, C6orf5, ACT1, CIKS, C6orf4, C6orf6, PSORS13, CANDF8 TRAF3-interacting protein 2 TRAF3IP2 10758 ENSG00000056972 mutation identified in 1 family with CANDF8 ?Candidiasis, familial, 8, 615527 (3), Autosomal recessive; {Psoriasis susceptibility 13}, 614070 (3) Traf3ip2 (MGI:2143599) -chr6 111660331 111873451 6q21 6q21 137025 FYN FYN protooncogene, SRC family tyrosine kinase FYN 2534 ENSG00000010810 proximal 6q21 Fyn (MGI:95602) -chr6 112052812 112069685 6q21 6q21 603400 CCN6, WISP3, PPAC, PPRD Cellular communication network factor 6 CCN6 8838 ENSG00000112761 Progressive pseudorheumatoid dysplasia, 208230 (3), Autosomal recessive Ccn6 (MGI:2685581) -chr6 112070662 112087528 6q21 6q21 607345 TUBE1, TUBE Tubulin, epsilon-1 TUBE1 51175 ENSG00000074935 Tube1 (MGI:1919174) -chr6 112107930 112254721 6q21 6q21 600133 LAMA4, LAMA3, CMD1JJ Laminin, alpha-4 LAMA4 3910 ENSG00000112769 Cardiomyopathy, dilated, 1JJ, 615235 (3), Autosomal dominant Lama4 (MGI:109321) -chr6 113857344 113863474 6q22.2 6q21 177061 MRACKS, MACS, PKCSL Myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L) MARCKS 4082 ENSG00000277443 monomorphic Marcks (MGI:96907) -chr6 113933027 113971147 6q21 6q21 605164 HDAC2 Histone deacetylase 2 HDAC2 3066 ENSG00000196591 Hdac2 (MGI:1097691) -chr6 114055585 114343022 6q22.31 6q-q 609407 HS3ST5, 3OST5 Heparan sulfate-glucosamine 3-sulfotransferase 5 HS3ST5 222537 ENSG00000249853 Hs3st5 (MGI:2441996) -chr6 115931148 116100738 6q21-q22.3 6q22.1 606573 FRK, RAK, GTK FYN-related kinase FRK 2444 ENSG00000111816 Frk (MGI:103265) -chr6 116118908 116219936 6q21-q22.3 6q22.1 120110 COL10A1 Collagen X, alpha-1 polypeptide COL10A1 1300 ENSG00000123500 Metaphyseal chondrodysplasia, Schmid type, 156500 (3), Autosomal dominant Col10a1 (MGI:88445) -chr6 116254170 116444860 6q22 6q22.1 605942 DSE, SART2, EDSMC2 Dermatan sulfate epimerase DSE 29940 ENSG00000111817 Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3), Autosomal recessive Dse (MGI:2443455) -chr6 116274857 116279929 6q22-q23 6q22.1 604714 TSPYL1, TSPYL, SIDDT Y-encoded testis-specific protein-like TSPYL1 7259 ENSG00000189241 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3), Autosomal recessive Tspyl1 (MGI:1298395) -chr6 116461374 116463781 6q22.1 6q22.1 617305 FAM26F, INAM Family with sequence similarity 26, member F CALHM6 441168 ENSG00000188820 Calhm6 (MGI:2443082) -chr6 116494988 116545683 6q22.1 6q22.1 614137 BET3L, TRAPPC3L Bet3, S. cerevisiae, homolog-like TRAPPC3L 100128327 ENSG00000173626 Trappc3l (MGI:3642034) -chr6 116598183 116633050 6q22.1 6q22.1 612647 RSPH4A, CILD11 Radial spoke head component 4A RSPH4A 345895 ENSG00000111834 Ciliary dyskinesia, primary, 11, 612649 (3) Rsph4a (MGI:3027894) -chr6 116677642 116741866 6q22.1 6q22.1 604545 KPNA5 Karyopherin alpha-5 KPNA5 3841 ENSG00000196911 -chr6 116788511 116831127 6q22.1 6q22.1 613572 GPRC6A G protein-coupled receptor, family C, group 6, member A GPRC6A 222545 ENSG00000173612 Gprc6a (MGI:2429498) -chr6 116877217 116932162 6q22.2 6q22.1 612659 RFX6, RFXDC1, MTCHRS Regulatory factor X, 6 RFX6 222546 ENSG00000185002 Mitchell-Riley syndrome, 615710 (3), Autosomal recessive Rfx6 (MGI:2445208) -chr6 117265557 117273564 6q21 6q22.1 609979 VGLL2, VGL2, VITO1 Vestigial-like 2 VGLL2 245806 ENSG00000170162 Vgll2 (MGI:2447460) -chr6 117287352 117426064 6q22 6q22.1 165020 ROS1, MCF3 Avian UR2 sarcoma virus oncogene (v-ros) homolog 1 ROS1 6098 ENSG00000047936 Ros1 (MGI:97999) -chr6 117560268 117602519 6q21 6q22.1 606845 GOPC, PIST, FIG, CAL Golgi-associated PDZ and coiled-coil domains-containing protein GOPC 57120 ENSG00000047932 Gopc (MGI:2149946) -chr6 117675468 117710726 6q22.31 6q22.1 610463 NUS1, NGBR, C6orf68, CDG1AA, MRD55 NUS1 dehydrodolichyl diphosphate synthase subunit NUS1 116150 ENSG00000153989 mutation identified in 1 CDG1AA family Mental retardation, autosomal dominant 55, with seizures, 617831 (3), Autosomal dominant; ?Congenital disorder of glycosylation, type 1aa, 617082 (3), Autosomal recessive Nus1 (MGI:1196365) -chr6 118460771 118710100 6q22.31 6q22.31 618865 CEP85L, C6orf204, LIS10 CEP85-like protein CEP85L 387119 ENSG00000111860 Lissencephaly 10, 618873 (3), Autosomal dominant Cep85l (MGI:3642684) -chr6 118548295 118561715 6q22.1 6q22.31 172405 PLN, PLB, CMD1P, CMH18 Phospholamban PLN 5350 ENSG00000198523 Cardiomyopathy, dilated, 1P, 609909 (3); Cardiomyopathy, hypertrophic, 18, 613874 (3), Autosomal dominant Pln (MGI:97622) -chr6 118813454 118935158 6q22.1-q22.33 6q22.31 610098 MCM9, MCMDC1, ODG4 Minichromosome maintenance complex component 9 MCM9 254394 ENSG00000111877 Ovarian dysgenesis 4, 616185 (3), Autosomal recessive Mcm9 (MGI:1918817) -chr6 118894151 118909170 6q22.31 6q22.31 609189 ASF1A, CIA Anti-silencing function 1, S. cerevisiae, homolog of, A ASF1A 25842 ENSG00000111875 Asf1a (MGI:1913653) -chr6 119177203 119350618 6q22 6q22.31 604344 MAN1A1 Mannosidase, alpha, class 1A, member 1 MAN1A1 4121 ENSG00000111885 Man1a (MGI:104677) -chr6 121079493 121335383 6q22.31 6q22.31 615867 TBC1D32, BROMI TBC1 domain family, member 32 TBC1D32 221322 ENSG00000146350 Tbc1d32 (MGI:2442827) -chr6 121435645 121449726 5q22.31 6q22.31 121014 GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3 Gap junction protein, alpha-1, 43kD (connexin 43) GJA1 2697 ENSG00000152661 pseudogene on chr.5 Erythrokeratodermia variabilis et progressiva 3, 617525 (3), Autosomal dominant; Craniometaphyseal dysplasia, autosomal recessive, 218400 (3), Autosomal recessive; Oculodentodigital dysplasia, 164200 (3), Autosomal dominant; Hypoplastic left heart syndrome 1, 241550 (3), Autosomal recessive; Palmoplantar keratoderma with congenital alopecia, 104100 (3), Autosomal dominant; Syndactyly, type III, 186100 (3), Autosomal dominant; Oculodentodigital dysplasia, autosomal recessive, 257850 (3), Autosomal recessive; Atrioventricular septal defect 3, 600309 (3), Autosomal dominant Gja1,Gja6 (MGI:95717,MGI:95713) -chr6 122399550 122433118 6q22.3 6q22.31 140581 HSF2 Heat-shock transcription factor 2 HSF2 3298 ENSG00000025156 Hsf2 (MGI:96239) -chr6 122443350 122471806 6q22.31 6q22.31 614548 SERINC1, TMS2, KIAA1253 Serine incorporator 1 SERINC1 57515 ENSG00000111897 Serinc1 (MGI:1926228) -chr6 122471920 122726372 6q22.31 6q22.31 606914 PKIB Protein kinase, cAMP-dependent catalytic, inhibitor beta PKIB 5570 ENSG00000135549 Pkib (MGI:101937) -chr6 122749200 122784073 6q22-q23 6q22.31 602965 FABP7, FABPB, BLBP Fatty acid-binding protein 7 FABP7 2173 ENSG00000164434 Fabp7 (MGI:101916) -chr6 122788455 122809719 6q22.31 6q22.31 610728 SMPDL3A, ASML3A Sphingomyelin phosphodiesterase, acid-like, 3A SMPDL3A 10924 ENSG00000172594 Smpdl3a (MGI:1931437) -chr6 122996234 123072924 6q22.31 6q22.31 616945 CLVS2 Clavesin 2 CLVS2 134829 ENSG00000146352 Clvs2 (MGI:2443223) -chr6 123216338 123636949 6q22-q23 6q22.31 603283 TRDN, TDN, CPVT5 Triadin TRDN 10345 ENSG00000186439 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3), Autosomal recessive Trdn (MGI:1924007) -chr6 123803841 124825651 6q21 6q22.31 609758 NKAIN2, TCBA Na+/K+ transporting ATPase interacting 2 NKAIN2 154215 ENSG00000188580 fused with SUSP1 in T-cell lymphoma/leukemia Nkain2 (MGI:1923447) -chr6 124908242 124963026 6q23 6q22.31 602532 RNF217AS1, STL RNF217 antisense RNA 1 RNF217-AS1 7955 ENSG00000236548 -chr6 124962405 125092633 6q22.31 6q22.31 618592 RNF217, OSTL, IBRDC1, C6orf172 Ring finger potein 217 RNF217 154214 ENSG00000146373 overlaps STL in opposite orientation Rnf217 (MGI:3610311) -chr6 125153729 125264406 6q22.31 6q22.31 604069 TPD52L1, D53 Tumor protein D52-like 1 TPD52L1 7164 ENSG00000111907 Tpd52l1 (MGI:1298386) -chr6 125747638 125762242 6q21 6q22.31 604674 HEY2, HERP1, GRL HES-related family bHLH transcription factor with YRPW motif 2 HEY2 23493 ENSG00000135547 Hey2 (MGI:1341884) -chr6 125780942 125932033 6q22.33 6q22.31-q22.32 609752 NCOA7, ERAP140 Nuclear receptor coactivator 7 NCOA7 135112 ENSG00000111912 Ncoa7 (MGI:2444847) -chr6 125956769 125980243 6q22.33 6q22.32 609998 HINT3 Histidine triad nucleotide-binding protein 3 HINT3 135114 ENSG00000111911 Hint3 (MGI:1914097) -chr6 126339695 126483319 6q22.32 6q22.32 611264 CEMPW, C6orf173, CUG2 Centromeric protein W CENPW 387103 ENSG00000203760 Cenpw (MGI:1913561) -chr6 126800000 148500000 6q22-q24 609255 FEB5 Febrile seizures, familial, 5 619398 between D6S1572 and D6S472 Febrile seizures, familial, 5, 609255 (2), Autosomal dominant -chr6 126800000 148500000 6q22-q24 606035 FIQTL1 Fasting insulin level quantitative trait locus 1 619503 max lod at D6S1569 [Fasting insulin level quantitative trait locus 1], 606035 (2) -chr6 126800000 130900000 6q22.3-q23.1 142470 HBFQTL2, FCP Fetal hemoglobin quantitative trait locus 2 7954 Fetal hemoglobin quantitative trait locus 2, 142470 (2), Autosomal dominant -chr6 126800000 138300000 6q22-q23 161950 IGAN1 IgA nephropathy, susceptibility to, 1 60498 {IgA nephropathy, susceptibility to, 1}, 161950 (2), ?Autosomal dominant -chr6 126800000 138300000 6q22-q23 604201 SM2 Hepatic fibrosis susceptibility due to Schistosoma mansoni infection 53366 ?polymorphism of INFGR1 {Hepatic fibrosis susceptibility due to Schistosoma mansoni infection}, 604201 (2) -chr6 127118670 127199480 6q22.2 6q22.33 610574 RSPO3, PWTSR, CRISTIN1 R-spondin 3 RSPO3 84870 ENSG00000146374 Rspo3 (MGI:1920030) -chr6 127263414 127289892 6q22.1-q22.33 6q22.33 612137 RNF146 Ring finger protein 146 RNF146 81847 ENSG00000118518 Rnf146 (MGI:1915281) -chr6 127288711 127344178 6q22.33 6q22.33 612136 ECHDC1 Enoyl coenzyme A hydratase domain-containing protein 1 ECHDC1 55862 ENSG00000093144 Echdc1 (MGI:1277169) -chr6 127438405 127459388 6q22.33 6q22.33 619236 KIAA0408 KIAA0408 gene KIAA0408 9729 ENSG00000189367 9330159F19Rik (MGI:3036239) -chr6 127708193 127918594 6q22.33 6q22.33 613607 THEMIS, GASP, SPOT, C6orf190 Thymocyte-expressed molecule involved in selection THEMIS 387357 ENSG00000172673 Themis (MGI:2443552) -chr6 127968784 128520602 6q22.2-q22.3 6q22.33 602545 PTPRK Protein-tyrosine phosphatase, receptor type, kappa PTPRK 5796 ENSG00000152894 Ptprk (MGI:103310) -chr6 128883137 129516565 6q22-q23 6q22.33 156225 LAMA2, LAMM, MDC1A Laminin, alpha-2 (merosin) LAMA2 3908 ENSG00000196569 Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3), Autosomal recessive; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3), Autosomal recessive Lama2 (MGI:99912) -chr6 129576131 129710176 6q22-q24 6q22.33 613351 ARHGAP18 RHO GTPase-activating protein 18 ARHGAP18 93663 ENSG00000146376 Arhgap18 (MGI:1921160) -chr6 130018580 130141439 6q23 6q23.1 618844 L3MGTL3, MBT1, KIAA1798 L3MBTL histone methyl-lysine-binding protein 3 L3MBTL3 84456 ENSG00000198945 L3mbtl3 (MGI:2143628) -chr6 130827954 131063250 6q22-q23 6q23.1-q23.2 603237 EPB41L2 Erythrocyte membrane protein band 4.1-like 2 EPB41L2 2037 ENSG00000079819 Epb41l2 (MGI:103009) -chr6 131125697 131283533 6q23.2 6q23.2 604693 AKAP7, AKAP18 A-kinase anchor protein 7 AKAP7 9465 ENSG00000118507 Akap7 (MGI:1859150) -chr6 131573225 131584328 6q23 6q23.2 608313 ARG1 Arginase, liver ARG1 383 ENSG00000118520 Argininemia, 207800 (3), Autosomal recessive Arg1 (MGI:88070) -chr6 131573965 131628312 6q23.2 6q23.2 605042 MED23, MRT18 Mediator complex subunit 23 MED23 9439 ENSG00000112282 Mental retardation, autosomal recessive 18, 614249 (3), Autosomal recessive Med23 (MGI:1917458) -chr6 131637301 131747412 6q22 6q23.2 602182 ENPP3, PDNP3 Ectonucleotide pyrophosphatase/phosphodiesterase 3 ENPP3 5169 ENSG00000154269 Enpp3 (MGI:2143702) -chr6 131808019 131895154 6q22-q23 6q23.2 173335 ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of) ENPP1 5167 ENSG00000197594 {Obesity, susceptibility to}, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive; Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3), Autosomal recessive; {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant; Arterial calcification, generalized, of infancy, 1, 208000 (3), Autosomal recessive; Cole disease, 615522 (3), Autosomal dominant Enpp1 (MGI:97370) -chr6 131948175 131951371 6q23.1 6q23.2 121009 CCN2, CTGF, NOV2 Cellular communcation network factor 2 CCN2 1490 ENSG00000118523 proximal to MYB Ccn2 (MGI:95537) -chr6 132296054 132401519 6q23.1-q23.3 6q23.2 609000 MOXD1, MOX Monooxygenase, DBH-like, 1 MOXD1 26002 ENSG00000079931 Moxd1 (MGI:1921582) -chr6 132445866 132513471 6q23.2 6q23.2 603217 STX7 Syntaxin 7 STX7 8417 ENSG00000079950 Stx7 (MGI:1858210) -chr6 132538287 132539335 6q23.2 6q23.2 608282 TAR3, TA3 Trace amine receptor 3 TAAR9 134860 ENSG00000237110 Taar9 (MGI:3527454) -chr6 132552683 132553730 6q23.2 6q23.2 606927 GPR102, TA5 G protein-coupled receptor 102 TAAR8 83551 ENSG00000146385 Taar8c,Taar8b,Taar8a (MGI:2685995,MGI:3527452,MGI:2685076) -chr6 132570321 132571358 6q23.2 6q23.2 608923 TAAR6, TRAR4 Trace amine-associated receptor 6 TAAR6 319100 ENSG00000146383 Taar6 (MGI:2685074) -chr6 132588591 132616746 6q23.2 6q23.2 607405 PNR Putative neurotransmitter receptor TAAR5 9038 ENSG00000135569 Taar5 (MGI:2685073) -chr6 132617149 132624274 6q24 6q23.2 604849 TAAR2, GPR58 Trace amine-associated receptor 2 TAAR2 9287 ENSG00000146378 Taar2 (MGI:2685071) -chr6 132643311 132659181 6q23.1 6q23.2 609333 TAAR1, TA1 Trace amine-associated receptor 1 TAAR1 134864 ENSG00000146399 Taar1 (MGI:2148258) -chr6 132680848 132714054 6q23-q24 6q23.2 603570 VNN1, HDLCQ8 Vanin 1 VNN1 8876 ENSG00000112299 [High density lipoprotein cholesterol level QTL 8] (3) Vnn1 (MGI:108395) -chr6 132722786 132734764 6q23-q24 6q23.2 606592 VNN3 Vanin 3 VNN3P 55350 Vnn3 (MGI:1347055) -chr6 132743502 132763488 6q23-q24 6q23.2 603571 VNN2 Vanin 2 VNN2 8875 ENSG00000112303 -chr6 132769369 132798655 6q22.3 6q23.2 613361 C6orf192 Chromosome 6 open reading frame 192 SLC18B1 116843 ENSG00000146409 Slc18b1 (MGI:1923556) -chr6 132814568 132817563 6q 6q23.2 603660 RPS12 Ribosomal protein S12 RPS12 6206 ENSG00000112306 Rps12 (MGI:98105) -chr6 133240339 133532127 6q23 6q23.2 603550 EYA4, DFNA10, CMD1J EYA transcriptional coactivator and phosphatase 4 EYA4 2070 ENSG00000112319 mutation identified in 1 CMD1J family ?Cardiomyopathy, dilated, 1J, 605362 (3), Autosomal dominant; Deafness, autosomal dominant 10, 601316 (3), Autosomal dominant Eya4 (MGI:1337104) -chr6 133502251 133889005 6q23.2 6q23.2 616058 TARID TCF21 antisense RNA inducing promoter demethylation TARID 100507308 ENSG00000227954 -chr6 133889112 133895536 6q23-q24 6q23.2 603306 TCF21, POD1 Transcription factor-21 (epicardin; podocyte-expressed 1) TCF21 6943 ENSG00000118526 Tcf21 (MGI:1202715) -chr6 133952173 133990431 6q23.2 6q23.2 605521 TBPL1, TRF2, TLF TATA box-binding protein-like protein 1 TBPL1 9519 ENSG00000028839 Tbpl1 (MGI:1339946) -chr6 133987580 134052650 6q23.2 6q23.2 610372 SLC2A12, GLUT12 Solute carrier family 2 (facilitated glucose transporter), member 12 SLC2A12 154091 ENSG00000146411 Slc2a12 (MGI:3052471) -chr6 134169247 134318111 6q23 6q23.2 602958 SGK1 Serum/glucocorticoid-regulated kinase 1 SGK1 6446 ENSG00000118515 Sgk1 (MGI:1340062) -chr6 134700000 160600000 6q23-q25 607446 BMIQ3 Body mass index quantitative trait locus 3 337895 max lod at D6S305 [Body mass index QTL3], 607446 (2) -chr6 134700000 138300000 6q23 602067 CMD1F, CDCD3, LGMD1D Cardiomyopathy, dilated-1F, autosomal dominant Cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, 602067 (2) -chr6 134700000 138300000 6q23 609319 HCHGQ1 Hematocrit/hemoglobin quantitative trait locus 1 100381204 [Hematocrit/hemoglobin quantitative trait locus 1], 609319 (2) -chr6 134700000 160600000 6q23-q25 608935 LNCR1 Lung cancer 1 450093 max hlod at D6S2436 {Lung cancer susceptibility}, 608935 (2) -chr6 134700000 148500000 6q23-q24 611536 MAFD6, BPAD Major affective disorder 6 100188844 {Major affective disorder 6}, 611536 (2) -chr6 134700000 138300000 6q23.3 614645 MPVQTL5 Mean platelet volume quantitative trait locus 5 100887752 associated with rs9399137 Mean platelet volume QTL5, 614645 (2) -chr6 134700000 148500000 6q23-q24 602154 NTT Noncoding transcript in T cells 7956 -chr6 134700000 138300000 6q23 180300 RA Rheumatoid arthritis, susceptibility to associated with SNP rs10499194 and rs6920220 {Rheumatoid arthritis, susceptibility to}, 180300 (2) -chr6 134700000 138300000 6q23 614494 RP63 Retinitis pigmentosa 63 100862681 between D6S457 and D6S1656 Retinitis pigmentosa 63, 614494 (2), Autosomal dominant -chr6 134700000 138300000 6q23 612378 SLEB13 Systemic lupus erythematosus, susceptibility to, 13 100196918 associated with rs5029939 {Systemic lupus erythematosus, susceptibility to, 13}, 612378 (2) -chr6 134700000 142200000 6q23-q24.1 608220 SPG25 Spastic paraplegia 25, autosomal recessive, with disc herniation 387583 Spastic paraplegia 25, autosomal recessive, 608220 (2), Autosomal recessive -chr6 134917392 134950100 6q23.2 6q23.3 606467 ALDH8A1, ALDH12 Aldehyde dehydrogenase 8 family, member A1 ALDH8A1 64577 ENSG00000118514 Aldh8a1 (MGI:2653900) -chr6 134960377 135054825 6q24 6q23.3 612450 HBS1L, KIAA1038, ERFS HBS1-like protein HBS1L 10767 ENSG00000112339 Hbs1l (MGI:1891704) -chr6 135181307 135219171 6q22 6q23.3 189990 MYB Avian myeloblastosis viral (v-myb) oncogene homolog MYB 4602 ENSG00000118513 {T-cell acute lymphoblastic leukemia} (3) Myb (MGI:97249) -chr6 135283531 135497770 6q23.3 6q23.3 608894 AHI1 Abelson helper integration site 1 AHI1 54806 ENSG00000135541 Joubert syndrome 3, 608629 (3), Autosomal recessive Ahi1 (MGI:87971) -chr6 135851700 136195573 6q23.3 6q23.3 604645 PDE7B Phosphodiesterase 7B, cAMP-specific, high-affinity PDE7B 27115 ENSG00000171408 Pde7b (MGI:1352752) -chr6 136256626 136289845 6q22-q23 6q23.3 612588 BCLAF1, BTF, KIAA0164 BCL2-associated transcription factor 1 BCLAF1 9774 ENSG00000029363 Bclaf1 (MGI:1917580) -chr6 136342733 136550421 6q22-q25 6q23.3 604108 MAP7, EMAP115 Microtubule-associated protein-7 MAP7 9053 ENSG00000135525 Map7 (MGI:1328328) -chr6 136557045 136793097 6q22.33 6q23.3 602448 MAP3K5, MEKK5, MAPKKK5, ASK1 Mitogen-activated protein kinase kinase kinase 5 MAP3K5 4217 ENSG00000197442 Map3k5 (MGI:1346876) -chr6 136821682 136913933 6q23.3 6q23.3 601757 PEX7, RCDP1, PBD9B Peroxisomal biogenesis factor-7 PEX7 5191 ENSG00000112357 Rhizomelic chondrodysplasia punctata, type 1, 215100 (3), Autosomal recessive; Peroxisome biogenesis disorder 9B, 614879 (3), Autosomal recessive Pex7 (MGI:1321392) -chr6 136922300 136925659 6q23.3 6q23.3 612519 SLC35D3 Solute carrier family 35, member D3 SLC35D3 340146 ENSG00000182747 Slc35d3 (MGI:1923407) -chr6 136999970 137044964 6q23 6q23.3 605620 IL20RA Interleukin 20 receptor, alpha IL20RA 53832 ENSG00000016402 Il20ra (MGI:3605069) -chr6 137143819 137173643 6q24.1-q24.2 6q23.3 606648 IL22BP, IL22RA2 Interleukin 22-binding protein IL22RA2 116379 ENSG00000164485 Il22ra2 (MGI:2665114) -chr6 137197483 137220350 6q23.3 6q23.3 107470 IFNGR1, IMD27A, IMD27B Immune interferon, receptor for IFNGR1 3459 ENSG00000027697 {H. pylori infection, susceptibility to}, 600263 (3); Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3), Autosomal recessive; Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3), Autosomal dominant; {Tuberculosis infection, protection against}, 607948 (3); {Tuberculosis, susceptibility to}, 607948 (3); {Hepatitis B virus infection, susceptibility to}, 610424 (3) Ifngr1 (MGI:107655) -chr6 137492198 137494393 6q23.3 6q23.3 609323 OLIG3, BHLHB7 Oligodendrocyte lineage transcription factor 3 OLIG3 167826 ENSG00000177468 Olig3 (MGI:2149955) -chr6 137823668 137868232 6q23.3 6q23.3 618508 WAKMAR2 Wound- and keratinocyte migration-associated long noncoding RNA 2 WAKMAR2 100130476 ENSG00000237499 partially overlaps TNFAIP on opposite strand -chr6 137866316 137883311 6q23 6q23.3 191163 TNFAIP3, A20, OTUD7C, AISBL Tumor necrosis factor-alpha-induced protein 3 TNFAIP3 7128 ENSG00000118503 Autoinflammatory syndrome, familial, Behcet-like, 616744 (3), Autosomal dominant Tnfaip3 (MGI:1196377) -chr6 138088504 138107418 6q23.3 6q23.3 609301 PERP, OLMS2, EKVP7 p53 effector related to PMP22 PERP 64065 ENSG00000112378 Erythrokeratodermia variabilis et progressiva 7, 619209 (3), Autosomal recessive; Olmsted syndrome 2, 619208 (3), Autosomal dominant Perp (MGI:1929938) -chr6 138161689 138344662 6q23.3-q24.1 6q23.3-q24.1 617411 ARFGEF3, BIG3, KIAA1244 ADP-ribosylation factor guanine nucleotide exchange factor 3 ARFGEF3 57221 ENSG00000112379 Arfgef3 (MGI:106387) -chr6 138215985 138218490 6q23-q24 6q23.3 605669 PBOV1, UROC28, UC28 Prostate and breast cancer overexpressed 1 PBOV1 59351 ENSG00000254440 -chr6 138403530 138422196 6q24 6q24.1 605825 C6orf34, SOUL Soul, chicken, homolog of HEBP2 23593 ENSG00000051620 Hebp2 (MGI:1860084) -chr6 138773768 138793318 6q24.1 6q24.1 615353 CCDC28A, C6orf80 Coiled-coil domain-containing 28A CCDC28A 25901 ENSG00000024862 Ccdc28a (MGI:2443508) -chr6 138903492 138988252 6q23.1-q24.1 6q24.1 614825 REPS1, NBIA7 RALBP1-associated EPS domain-containing protein 1 REPS1 85021 ENSG00000135597 mutation identified in 1 NBIA7 family ?Neurodegeneration with brain iron accumulation 7, 617916 (3), Autosomal recessive Reps1 (MGI:1196373) -chr6 139135079 139180801 6q24.1 6q24.1 607977 HECA, HDC HDC homolog, cell cycle regulator HECA 51696 ENSG00000112406 Heca (MGI:2685715) -chr6 139159161 139324028 6q24.1 6q24.1 611438 TXLNB Taxilin, beta TXLNB 167838 ENSG00000164440 Txlnb (MGI:2671945) -chr6 139371806 139374647 6q23.3 6q24.1 602937 CITED2, MRG1, P35SRJ, VSD2, ASD8 CBP/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 CITED2 10370 ENSG00000164442 ?pseudogene on 1q22 Atrial septal defect 8, 614433 (3), Autosomal dominant; Ventricular septal defect 2, 614431 (3), Autosomal dominant Cited2 (MGI:1306784) -chr6 142074483 142147121 6q21-qter 6q24.1 162341 NMBR Neuromedin B receptor NMBR 4829 ENSG00000135577 Nmbr (MGI:1100525) -chr6 142147262 142224684 6q24.1 6q24.1-q24.2 610902 VTA1, 6orf55, SBP1, LIP5, DRG1 Vessicle trafficking 1 VTA1 51534 ENSG00000009844 Vta1 (MGI:1913451) -chr6 142200000 155200000 6q24.2-q25.2 127500 DUH1, DUH Dyschromatosis universalis hereditaria 1 max lod at D6S1553 Dyschromatosis universalis hereditaria 1, 127500 (2), Autosomal dominant -chr6 142302006 142446260 6q24.1 6q24.2 612243 ADGRG6, PR126, VIGR, LCCS9 Adhesion G protein-coupled receptor G6 ADGRG6 57211 ENSG00000112414 Lethal congenital contracture syndrome 9, 616503 (3), Autosomal recessive Adgrg6 (MGI:1916151) -chr6 142751468 142945755 6q23-q24 6q24.2 143054 HIVEP2, MRD43 Human immunodeficiency virus type I enhancer-binding protein-2 HIVEP2 3097 ENSG00000010818 Mental retardation, autosomal dominant 43, 616977 (3), Autosomal dominant Hivep2 (MGI:1338076) -chr6 143422831 143450749 6q24.2 6q24.2 615388 ADAT2, TAD2 Adenosine deaminase, tRNA-specific, 2 ADAT2 134637 ENSG00000189007 Adat2 (MGI:1914007) -chr6 143450804 143490615 6q24.2 6q24.2 603164 PEX3, PBD10A, PBD10B Peroxisomal biogenesis factor-3 PEX3 8504 ENSG00000034693 mutation identified in 1 PBD10B patient Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3), Autosomal recessive; ?Peroxisome biogenesis disorder 10B, 617370 (3), Autosomal recessive Pex3 (MGI:1929646) -chr6 143494811 143511719 6q24.2 6q24.2 136820 FUCA2 Fucosidase, alpha-L- 2, plasma FUCA2 2519 ENSG00000001036 linked to PLG Fuca2 (MGI:1914098) -chr6 143536877 143831184 6q24.2 6q24.2 608724 PHACTR2, KIAA0680 Phosphatase and actin regulator 2 PHACTR2 9749 ENSG00000112419 Phactr2 (MGI:2446138) -chr6 143940299 144064598 6q24 6q24.2 603044 PLAGL1, ZAC, LOT1 Pleomorphic adenoma gene-like 1 (ZAC tumor suppressor) PLAGL1 5325 ENSG00000118495 relaxed imprinting in TNDM Plagl1 (MGI:1100874) -chr6 144004915 144008258 6q24 6q24.2 606546 HYMAI Hydatidiform mole-associated and imprinted transcript HYMAI 57061 ENSG00000283122 relaxed imprinting in TNDM Hymai (MGI:2651552) -chr6 144094883 144095572 6q24.2 6q24.2 617847 SF3B5, SF3B10 Splicing factor 3B, subunit 5 SF3B5 83443 ENSG00000169976 Sf3b5 (MGI:1913375) -chr6 144140043 144191938 6q24 6q24.2 605014 STX11, FHL4, HPLH4, HLH4 Syntaxin-11 STX11 8676 ENSG00000135604 Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3), Autosomal recessive Stx11 (MGI:1921982) -chr6 144285260 144853033 6q24 6q24.2 128240 UTRN, DMDL, DRP1 Utrophin (homologous to dystrophin) UTRN 7402 ENSG00000152818 near dy in mouse Utrn (MGI:104631) -chr6 145100000 160600000 6q24-q25 612863 DEL6q24q25, C6DELq25q25 Chromosome 6q24-q25 deletion syndrome Chromosome 6q25-q25 deletion syndrome, 612863 (4), Autosomal dominant -chr6 145100000 160600000 6q24-q25 606255 STQTL1 Stature quantitative trait locus 1 associated with rs4896582 and rs3748069 {Stature QTL 1}, 606255 (2) -chr6 145100000 148500000 6q24 601410 TNDM1 Transient neonatal diabetes mellitus 1 disordered imprinting of PLAGL1 and HYMAI {Diabetes mellitus, transient neonatal 1}, 601410 (4), Autosomal dominant -chr6 145382539 145736022 6q24 6q24.3 607566 EPM2A, MELF, EPM2 EPM2A glucan phosphatase, laforin EPM2A 7957 ENSG00000112425 Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3), Autosomal recessive Epm2a (MGI:1341085) -chr6 145793501 145864408 6q24 6q24.3 609101 FBXO30, FBX30 F-box only protein 30 FBXO30 84085 ENSG00000118496 Fbxo30 (MGI:1919115) -chr6 146027633 146437600 6q24 6q24.3 604473 GRM1, MGLUR1, GRM1A, SCAR13, SCA44 Glutamate receptor, metabotropic, 1 GRM1 2911 ENSG00000152822 Spinocerebellar ataxia, autosomal recessive 13, 614831 (3), Autosomal recessive; Spinocerebellar ataxia 44, 617691 (3), Autosomal dominant Grm1 (MGI:1351338) -chr6 146543832 146554952 6q24.3 6q24.3 612906 RAB32 Ras-associated protein RAB32 RAB32 10981 ENSG00000118508 Rab32 (MGI:1915094) -chr6 146598971 146815461 6q24.3 6q24.3 614630 ADGB Androglobin ADGB 79747 ENSG00000118492 Adgb (MGI:3605549) -chr6 147204183 147390472 6q24.3 6q24.3 604586 STXBP5 Syntaxin-binding protein 5 (tomosyn) STXBP5 134957 ENSG00000164506 Stxbp5 (MGI:1926058) -chr6 148193439 148552048 6q24.3 6q24.3-q25.1 607955 SASH1, KIAA0790, CAPOK, DUH1 Sterile alpha motifs- and SH3 domain-containing protein 1 SASH1 23328 ENSG00000111961 mutation identified in 1 CAPOK family Dyschromatosis universalis hereditaria 1, 127500 (3), Autosomal dominant; ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3), Autosomal recessive Sash1 (MGI:1917347) -chr6 148745890 149076989 6q25.1 6q25.1 610752 UST Uronyl 2-sulfotransferase UST 10090 ENSG00000111962 Ust (MGI:2442406) -chr6 149217925 149411610 6q25 6q25.1 605101 TAB2, MAP3K7IP2, KIAA0733, CHTD2 Tak1 (MAP3K7) binding protein 2 TAB2 23118 ENSG00000055208 Congenital heart defects, nonsyndromic, 2, 614980 (3), Autosomal dominant Tab2 (MGI:1915902) -chr6 149400261 149401277 6q25 6q25.1 608829 SUMO4, IDDM5 Small ubiquitin-like modifier 4 SUMO4 387082 ENSG00000177688 {Diabetes mellitus, insulin-dependent, 5}, 600320 (3) Sumo3 (MGI:1336201) -chr6 149446794 149485013 6q25.1 6q25.1 611106 ZC3H12D, p34, C6orf95 Zinc finger CCCH domain-containing protein 12D ZC3H12D 340152 ENSG00000178199 Zc3h12d (MGI:3045313) -chr6 149504494 149546042 6q24-q25 6q25.1 607609 PPIL4 Peptidyl-prolyl isomerase-like 4 PPIL4 85313 ENSG00000131013 Ppil4 (MGI:1914668) -chr6 149594872 149649017 6q25.1 6q25.1 606696 KATNA1 Katanin, p60 subunit, A1 KATNA1 11104 ENSG00000186625 Katna1 (MGI:1344353) -chr6 149658152 149718100 6q25.1 6q25.1 603473 LATS1 Large tumor suppressor kinase 1 LATS1 9113 ENSG00000131023 Lats1 (MGI:1333883) -chr6 149724314 149746528 6q24.3 6q25.1 608141 NUP43 Nucleoporin, 43kD NUP43 348995 ENSG00000120253 Nup43 (MGI:1917162) -chr6 149749694 149811420 6q22.3-q24 6q25.1 176851 PCMT1 Protein-L-isoaspartate (D-aspartate) O-methyltransferase PCMT1 5110 ENSG00000120265 Pcmt1 (MGI:97502) -chr6 149864398 149898352 6q25.1 6q25.1 609243 RAET1E, LETAL, ULBP4 Retinoic acid early transcript 1E RAET1E 135250 ENSG00000164520 H60c,Raet1e,Raet1d,Raet1c,Raet1b,Raet1a (MGI:1861032,MGI:109477,MGI:109432,MGI:3774845,MGI:2675273,MGI:109431) -chr6 149916877 149923132 6q25.1 6q25.1 609244 RAET1G Retinoic acid early transcript 1G RAET1G 353091 ENSG00000203722 Raet1e,Ulbp1,Raet1b (MGI:1925027,MGI:109432,MGI:2675273) -chr6 149941946 149949234 6q25 6q25.1 605698 ULBP2 UL16-binding protein 2 ULBP2 80328 ENSG00000131015 Ulbp1,Raet1b (MGI:1925027,MGI:109432) -chr6 149963942 149973714 6q25 6q25.1 605697 ULBP1 UL16-binding protein 1 ULBP1 80329 ENSG00000111981 Ulbp1 (MGI:1925027) -chr6 150018333 150025531 6q24.2-q25.3 6q25.1 611047 RAET1L Retinoic acid early transcript 1L RAET1L 154064 ENSG00000155918 Ulbp1,Raet1b (MGI:1925027,MGI:109432) -chr6 150061052 150069120 6q25 6q25.1 605699 ULBP3 UL16-binding protein 3 ULBP3 79465 ENSG00000131019 9230019H11Rik,Ulbp1 (MGI:1925027,MGI:3588256) -chr6 150143043 150250391 6q24.3-q25.3 6q25.1 613242 PPP1R14C, KEPI Protein phosphatase 1, regulatory subunit 14C PPP1R14C 81706 ENSG00000198729 Ppp1r14c (MGI:1923392) -chr6 150368853 150405968 6q24-q25 6q25.1 612025 IYD, DEHAL1, TDH4 Iodotyrosine deiodinase IYD 389434 ENSG00000009765 Thyroid dyshormonogenesis 4, 274800 (3), Autosomal recessive Iyd (MGI:1917587) -chr6 150865683 151101886 6q25.2 6q25.1 611427 MTHFD1L, MTC1THFS Methylenetetrahydrofolate dehydrogenase 1-like, NADP(+)-dependent MTHFD1L 25902 ENSG00000120254 Mthfd1l (MGI:1924836) -chr6 151239814 151358558 6q25.1 6q25.1 604698 AKAP12, AKAP250, GRAVIN A-kinase anchor protein 12 AKAP12 9590 ENSG00000131016 Akap12 (MGI:1932576) -chr6 151364114 151391704 6q25.1 6q25.1 616595 ZBTB2, ZNF437, KIAA1483 Zinc finger- and BTB domain-containing protein 2 ZBTB2 57621 ENSG00000181472 Zbtb2 (MGI:2685949) -chr6 151404547 151452168 6q25 6q25.1 614917 RMND1, COXPD11 Required for meiotic nuclear division 1 homolog RMND1 55005 ENSG00000155906 Combined oxidative phosphorylation deficiency 11, 614922 (3), Autosomal recessive Rmnd1 (MGI:1913334) -chr6 151452465 151470100 6q25.1 6q25.1 616332 ARMT1, C6orf211 Acidic residue methyltransferase 1 ARMT1 79624 ENSG00000146476 Armt1 (MGI:1920669) -chr6 151654147 152129618 6q25.1 6q25.1-q25.2 133430 ESR1, ESR, ESTRR Estrogen receptor 1 ESR1 2099 ENSG00000091831 Breast cancer, somatic, 114480 (3); {Migraine, susceptibility to}, 157300 (3), Autosomal dominant; Estrogen resistance, 615363 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3) Esr1 (MGI:1352467) -chr6 152121686 152637394 6q25 6q25.2 608441 SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4, AMC3 Spectrin repeat-containing nuclear envelope protein 1 (nesprin 1) SYNE1 23345 ENSG00000131018 Arthrogryposis multiplex congenita 3, myogenic type, 618484 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 8, 610743 (3), Autosomal recessive Syne1 (MGI:1927152) -chr6 152697895 152747174 6q25 6q25.2 616805 MYCT1, MTLC MYC target in myeloid cells 1 MYCT1 80177 ENSG00000120279 Myct1 (MGI:1915882) -chr6 152750796 152759764 6q26-q27 6q25.2 192320 VIP Vasoactive intestinal peptide VIP 7432 ENSG00000146469 Vip (MGI:98933) -chr6 152970534 152983578 6q25-q26 6q25.2 606013 FBXO5, FBX5, EMI1 F-box only protein 5 FBXO5 26271 ENSG00000112029 Fbxo5 (MGI:1914391) -chr6 152987361 153003438 6q25.2 6q25.2 613542 MTRF1L Mitochondrial translational release factor 1-like MTRF1L 54516 ENSG00000112031 Mtrf1l (MGI:1918830) -chr6 154010495 154246866 6q24-q25 6q25.2 600018 OPRM1 Opioid receptor, mu-1 OPRM1 4988 ENSG00000112038 Oprm1 (MGI:97441) -chr6 154387514 154510684 6q25.2 6q25.2 617476 CNKSR3, CNK3 CNKSR family, member 3 CNKSR3 154043 ENSG00000153721 Cnksr3 (MGI:2674130) -chr6 154733377 154834243 6q25.2 6q25.2 616024 SCAF8, KIAA1116 SR-related C-terminal domain-associated factor 8 SCAF8 22828 ENSG00000213079 Scaf8 (MGI:1925212) -chr6 154995314 155257722 6q25.2-q25.3 6q25.2-q25.3 604709 TIAM2 T-cell lymphoma invasion and metastasis 2 TIAM2 26230 ENSG00000146426 Tiam2 (MGI:1344338) -chr6 155200000 160600000 6q25 612114 BMND11 Bone mineral density quantitative trait locus 11 100188884 associated with rs4870044, rs1038304, and rs1999805 [Bone mineral density QTL 11], 612114 (2) -chr6 155200000 160600000 6q25.3 612010 CELIAC12 Celiac disease, susceptibility to, 12 100188874 in LD block containing TAGAP {Celiac disease, susceptibility to, 12}, 612010 (2) -chr6 155200000 160600000 6q25 612521 IDDM21 Diabetes mellitus, insulin-dependent, 21 associated with rs1738074 {Diabetes mellitus, insulin-dependent, 21}, 612521 (2) -chr6 155200000 170805979 6q25-q27 600883 IDDM8 Insulin-dependent diabetes mellitus-8 3407 {Diabetes mellitus, insulin-dependent, 8}, 600883 (2) -chr6 155200000 160600000 6q25 607572 LPRS2 Leprosy, susceptibility to, 2 association with PARK2 {Leprosy, susceptibility to, 2}, 607572 (2) -chr6 155200000 164100000 6q25-q26 180020 RCD1 Retinal cone dystrophy-1 5953 ?Retinal cone dystrophy-1, 180020 (2), Autosomal dominant -chr6 155229870 155314496 6q25 6q25.3 607033 TFB1M, CGI75 Transcription factor B1, mitochondrial TFB1M 51106 ENSG00000029639 Tfb1m (MGI:2146851) -chr6 155395367 155455838 6q25.1 6q25.3 607105 NOX3 NADPH oxidase 3 NOX3 50508 ENSG00000074771 Nox3 (MGI:2681162) -chr6 156776025 157210778 6q25.1 6q25.3 614556 ARID1B, BAF250B, KIAA1235, MRD12, CSS1 AT-rich interaction domain-containing protein 1B ARID1B 57492 ENSG00000049618 Coffin-Siris syndrome 1, 135900 (3), Autosomal dominant Arid1b (MGI:1926129) -chr6 157381189 157678156 6q25.3 6q25.3 619295 ZDHHC14 Zinc finger DHHC-type palmitoyltransferase 14 ZDHHC14 79683 ENSG00000175048 Zdhhc14 (MGI:2653229) -chr6 157716045 157945076 6q26.3 6q25.3 605952 SNX9, SH3PX1 Sorting nexin 9 SNX9 51429 ENSG00000130340 Snx9 (MGI:1913866) -chr6 157981855 158099175 6q25.3 6q25.3 609410 SYNJ2, KIAA0348 Synaptojanin 2 SYNJ2 8871 ENSG00000078269 Synj2 (MGI:1201671) -chr6 158109514 158168269 6q25.3 6q25.3 614725 SERAC1, MEGDEL Serine active site-containing protein 1 SERAC1 84947 ENSG00000122335 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3), Autosomal recessive Serac1 (MGI:2447813) -chr6 158168315 158199343 6q25.3 6q25.3 608780 GTF2H5, TTD3, TFB5, C6orf175, TTDA General transcription factor IIH, polypeptide 5 GTF2H5 404672 ENSG00000272047 Trichothiodystrophy 3, photosensitive, 616395 (3) Gtf2h5 (MGI:107227) -chr6 158232235 158511827 6q25.3 6q25.3 619442 TULP4, TUSP TUB-like protein 4 TULP4 56995 ENSG00000130338 Tulp4 (MGI:1916092) -chr6 158536431 158635432 6q25.3 6q25.3 613209 TMEM181, GPR178, KIAA1423 Transmembrane protein 181 TMEM181 57583 ENSG00000146433 Tmem181a (MGI:1924356) -chr6 158636473 158644742 6q25.2-q25.3 6q25.3 601554 TCTEL1 T-complex-associated-testis-expressed 1-like 1 DYNLT1 6993 ENSG00000146425 Dynlt1c,Dynlt1b (MGI:3807476,MGI:98643) -chr6 158765743 158819367 6q25.3 6q25.3 123900 EZR, VIL2, CVL Ezrin EZR 7430 ENSG00000092820 coamplified with MYB Ezr (MGI:98931) -chr6 158947011 159000425 6q25.3 6q25.3 615876 RSPH3, RSHL2, RSP3, CILD32 Radial spoke head 3 RSPH3 83861 ENSG00000130363 Ciliary dyskinesia, primary, 32, 616481 (3), Autosomal recessive Rsph3a,Rsph3b (MGI:1914082,MGI:3630308) -chr6 159034480 159044990 6q25.3 6q25.3 609667 TAGAP T-cell activation GTPase-activating protein TAGAP 117289 ENSG00000164691 Tagap,Tagap1 (MGI:3615484,MGI:1919786) -chr6 159169399 159272107 6q25 6q25.3 609991 FNDC1, AGS8, KIAA1866 Fibronectin type III domain-containing protein 1 FNDC1 84624 ENSG00000164694 Fndc1 (MGI:1915905) -chr6 159669068 159762280 6q25.3 6q25.3 147460 SOD2, MNSOD, MVCD6 Superoxide dismutase-2, mitochondrial SOD2 6648 ENSG00000112096 {Microvascular complications of diabetes 6}, 612634 (3) Sod2 (MGI:98352) -chr6 159726695 159756318 6q25.3 6q25.3 605442 WTAP Wilms tumor 1-associating protein WTAP 9589 ENSG00000146457 Wtap (MGI:1926395) -chr6 159762044 159779111 6q25.3-q26 6q25.3 100678 ACAT2 Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase) ACAT2 39 ENSG00000120437 encoded on strand opposite TCP1 ?ACAT2 deficiency, 614055 (1), Isolated cases Acat3,Acat2 (MGI:109182,MGI:87871) -chr6 159778497 159789601 6q25.3-q26 6q25.3 186980 TCP1 T-complex locus TCP-1 TCP1 6950 ENSG00000120438 tightly linked to PLG; ~15cM proximal to TCP10; overlap with ACAT2 Tcp1 (MGI:98535) -chr6 159789811 159798428 6q25.3 6q25.3 611831 MRPL18 Mitochondrial ribosomal protein L18 MRPL18 29074 ENSG00000112110 Mrpl18 (MGI:1914931) -chr6 159890987 159917446 6q24-q27 6q25.3 165180 MAS1 Oncogene MAS1 MAS1 4142 ENSG00000130368 Mas1 (MGI:96918) -chr6 159969081 160111503 6q26 6q25.3 147280 IGF2R, MPRI Insulin-like growth factor-2 receptor (mannose-6-phosphate receptor, cation-independent) IGF2R 3482 ENSG00000197081 behaves as a tumor suppressor Hepatocellular carcinoma, somatic, 114550 (3) Igf2r (MGI:96435) -chr6 160003290 160007663 6q26 6q25.3 604893 AIRN, AIR Antisense IGF2R RNA, noncoding AIRN 100271873 ENSG00000268257 Airn (MGI:1353471) -chr6 160121807 160160589 6q26 6q25.3 602607 SLC22A1, OCT1 Solute carrier family 22 (organic cation transporter), member 1 SLC22A1 6580 ENSG00000175003 Slc22a1 (MGI:108111) -chr6 160216754 160258820 6q26 6q25.3 602608 SLC22A2, OCT2 Solute carrier family 22 (organic cation transporter), member 2 SLC22A2 6582 ENSG00000112499 Slc22a2 (MGI:1335072) -chr6 160348377 160454981 6q27 6q25.3 604842 SLC22A3, EMT Solute carrier family 22 (extraneuronal monoamine transporter), member 3 SLC22A3 6581 ENSG00000146477 Slc22a3 (MGI:1333817) -chr6 160466554 160511123 6q26-q27 6q25.3 611682 LPAL2, APOARGC Lipoprotein(a)-like 2 LPAL2 80350 ENSG00000213071 -chr6 160531481 160664274 6q27 6q25-q26 152200 LPA Apolipoprotein Lp(a) LPA 4018 ENSG00000198670 absent in mice [LPA deficiency, congenital], 618807 (3), Autosomal dominant; {Coronary artery disease, susceptibility to}, 618807 (3), Autosomal dominant Plg (MGI:97620) -chr6 160600000 170805979 6q26-q27 608219 DFNB38 Deafness, autosomal recessive 38 337991 Deafness, autosomal recessive 38, 608219 (2), Autosomal recessive -chr6 160600000 170805979 6q26-q27 614347 MRT28 Mental retardation, autosomal recessive 28 100852396 between rs6935718 and rs3886091 Mental retardation, autosomal recessive 28, 614347 (2), Autosomal recessive -chr6 160702192 160754096 6q26 6q26 173350 PLG, HAE4 Plasminogen PLG 5340 ENSG00000122194 20cM from TCP10A Dysplasminogenemia, 217090 (3), Autosomal recessive; Angioedema, hereditary, 4, 619360 (3), Autosomal dominant; Plasminogen deficiency, type I, 217090 (3), Autosomal recessive Plg (MGI:97620) -chr6 160991520 161117384 6q26 6q26 602425 MAP3K4, MEKK4, MTK1, MAPKKK4 Mitogen-activated protein kinase kinase kinase 4 MAP3K4 4216 ENSG00000085511 Map3k4 (MGI:1346875) -chr6 161129966 161274107 6q26 6q26 614795 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 AGPAT4 56895 ENSG00000026652 Agpat4 (MGI:1915512) -chr6 161347416 162727801 6q25.2-q27 6q26 602544 PRKN, PARK2, PDJ Parkin PRKN 5071 ENSG00000185345 shares 5' regulatory region and both 3' UTRs with PACRG Adenocarcinoma of lung, somatic, 211980 (3); Parkinson disease, juvenile, type 2, 600116 (3), Autosomal recessive; Ovarian cancer, somatic, 167000 (3) Prkn (MGI:1355296) -chr6 162726869 163315499 6q25-q27 6q26 608427 PACRG Parkin coregulated gene PACRG 135138 ENSG00000112530 shares 5' regulatory region and both 3' UTRs with PARK2 Pacrg (MGI:1916560) -chr6 163413064 163413949 6q26 6q26 615930 CAHM, LINC00468 Colorectal adenocarcinoma hypermethylated gene, noncoding CAHM 100526820 ENSG00000270419 -chr6 163414485 163578591 6q26 6q26 609590 QKI, QK1 QKI, KH domain-containing RNA-binding protein QKI 9444 ENSG00000112531 Qk (MGI:97837) -chr6 164100000 170805979 6q27 215400 CHDM Chordoma associated with duplication of the T gene {Chordoma, susceptibility to}, 215400 (4), Autosomal dominant -chr6 164100000 170805979 6q27 611382 KAZA3 Kala-azar, susceptibility to, 3 101241899 {Kala-azar, susceptibility to, 3}, 611382 (2) -chr6 165327286 165988114 6q27 6q27 610652 PDE10A, IOLOD, ADSD2 Phosphodiesterase 10A PDE10A 10846 ENSG00000112541 Striatal degeneration, autosomal dominant, 616922 (3), Autosomal dominant; Dyskinesia, limb and orofacial, infantile-onset, 616921 (3), Autosomal recessive Pde10a (MGI:1345143) -chr6 166157655 166168654 6q27 6q27 601397 TBXT, T, TFT, SAVA T-box transcription factor T TBXT 6862 ENSG00000164458 Sacral agenesis with vertebral anomalies, 615709 (3), Autosomal recessive; {Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant T (MGI:98472) -chr6 166364918 166382939 6q27 6q27 614738 MPC1, BRP44L, MPYCD Mitochondrial pyruvate carrier 1 MPC1 51660 ENSG00000060762 Mitochondrial pyruvate carrier deficiency, 614741 (3), Autosomal recessive Mpc1,Mpc1-ps (MGI:3781628,MGI:1915240) -chr6 166409363 166862524 6q27 6q27 601685 RPS6KA2, RSK3 Ribosomal protein S6 kinase A2 RPS6KA2 6196 ENSG00000071242 Rps6ka2 (MGI:1342290) -chr6 166922112 166956579 6q27 6q27 612944 RNASET2, RNASE6PL Ribonuclease T2 RNASET2 8635 ENSG00000026297 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3), Autosomal recessive Rnaset2a,Rnaset2b (MGI:3702087,MGI:1915445) -chr6 166999396 167052717 6q27 6q27 605392 FGFR1OP, FOP Fibroblast growth factor receptor-1 oncogene partner CEP43 11116 ENSG00000213066 fusion gene with ZNF198, CEP1, and FGFR1 Myeloproliferative disorder, 605392 (2) Cep43 (MGI:1922546) -chr6 167111794 167139140 6q27 6q27 601835 CCR6, CMKBR6, CKRL3, GPR29, GPRCY4 Chemokine (C-C) receptor 6 CCR6 1235 ENSG00000112486 Ccr6 (MGI:1333797) -chr6 167155246 167157979 6q27 6q27 602043 GPR31 G protein-coupled receptor-31 GPR31 2853 ENSG00000120436 Gpr31b (MGI:1354372) -chr6 167228299 167237511 6q27 6q27 616837 HPAT5 Human pluripotency-associated transcript 5, noncoding 112590798 ENSG00000280707 -chr6 167269031 167316013 6q27 6q27 607995 UNC93A unc-93 homolog A UNC93A 54346 ENSG00000112494 Unc93a2,Unc93a (MGI:1933250,MGI:3712668) -chr6 167373089 167384509 6q27 6q27 187020 TCP10 T-complex 10 (a murine tcp homolog) TCP10L3 6953 ENSG00000203690 Tcp10a,Tcp10c (MGI:98543,MGI:98541) -chr6 167826563 167972022 6q27 6q27 159559 AFDN, MLLT4, AF6 Afadin AFDN 4301 ENSG00000130396 Afdn (MGI:1314653) -chr6 167997670 168045105 6q27 6q27 603815 KIF25, KNSL3 Kinesin family member 25 KIF25 3834 ENSG00000125337 -chr6 168292829 168319776 6q27 6q27 608966 DACT2, DPR2, DAPPER2 Dapper, antagonist of beta-catenin, 2 DACT2 168002 ENSG00000164488 Dact2 (MGI:1920347) -chr6 168441152 168667991 6q27 6q27 607223 SMOC2, SMAP2, DTDP1 Secreted modular calcium-binding protein 2 SMOC2 64094 ENSG00000112562 Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3), Autosomal recessive Smoc2 (MGI:1929881) -chr6 169215784 169253845 6q27 6q27 188061 THBS2 Thrombospondin 2 THBS2 7058 ENSG00000186340 {Lumbar disc herniation, susceptibility to}, 603932 (3) Thbs2 (MGI:98738) -chr6 169702111 169706359 6q27 6q27 616987 C6orf120 Chromosome 6 open reading frame 120 C6orf120 387263 ENSG00000185127 1600012H06Rik (MGI:1915162) -chr6 169703901 169724499 6q26 6q27 613069 PHF10, BAF45A PHD finger protein 10 PHF10 55274 ENSG00000130024 Phf10 (MGI:1919307) -chr6 169725487 169751580 6q27 6q27 186977 TCTE3 T-complex-associated-testis-expressed-3 DYNLT2 6991 ENSG00000184786 Dynlt2a2,Dynlt2a3 (MGI:3809205,MGI:3781595) -chr6 169751621 169781599 6q27 6q27 615532 ERMARD, C6orf70, PVNH6 Endoplasmic reticulum membrane-associated RNA degradation protein ERMARD 55780 ENSG00000130023 ?Periventricular nodular heterotopia 6, 615544 (3), Autosomal dominant Ermard (MGI:1917317) -chr6 170282199 170291077 6q27 6q27 606582 DLL1, DELTA1, NEDBAS Delta-like canonical Notch ligand 1 DLL1 28514 ENSG00000198719 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, 618709 (3), Autosomal dominant Dll1 (MGI:104659) -chr6 170290702 170407747 6q26-q27 6q27 612266 FAM120B, PGCC1, CCPG, KIAA1838 Family with sequence similarity 120, member B FAM120B 84498 ENSG00000112584 Fam120b (MGI:1914794) -chr6 170535119 170553306 6q27 6q27 602017 PSMB1 Proteasome subunit, beta type, 1 PSMB1 5689 ENSG00000008018 incorrectly assigned to 7p Psmb1 (MGI:104884) -chr6 170554368 170572858 6q27 6q27 600075 TBP, SCA17, HDL4 TATA box binding protein TBP 6908 ENSG00000112592 Spinocerebellar ataxia 17, 607136 (3), Autosomal dominant; {Parkinson disease, susceptibility to}, 168600 (3), Autosomal dominant, Multifactorial Tbp (MGI:101838) -chr6 170575294 170584654 6q27 6q27 600866 PDCD2 Programmed cell death 2 PDCD2 5134 ENSG00000071994 Pdcd2 (MGI:104643) -chr6 0 170805979 Chr.6 109180 BEVI Baboon M7 virus replication 628 -chr6 0 170805979 Chr.6 137010 FEA F9 embryonic antigen 7959 -chr6 0 170805979 Chr.6 153435 LAKLG, LAKL Lymphokine-activated killer cell ligand 3905 -chr6 0 170805979 Chr.6 158050 MRBC Monkey RBC receptor 7960 -chr6 0 170805979 Chr.6 187330 TS546 Temperature sensitivity complementation, cell cycle specific, ts546 cells 7963 -chr7 0 13700000 7p22.3-p21.3 614238 HYPT10 Hypotrichosis 10 100736251 between D7S1532 and D7S3047 Hypotrichosis 10, 614238 (2), Autosomal recessive -chr7 192570 260771 7p22 7p22.3 611061 FAM20C, DMP4 Family with sequence similarity 20, member C FAM20C 56975 ENSG00000177706 Raine syndrome, 259775 (3), Autosomal recessive Fam20c (MGI:2136853) -chr7 497244 520667 7p22 7p22.3 173430 PDGFA Platelet-derived growth factor, alpha polypeptide PDGFA 5154 ENSG00000197461 Pdgfa (MGI:97527) -chr7 549184 727675 7pter-p22 7p22.3 176911 PRKAR1B Protein kinase, cAMP-dependent, regulatory, type I, beta PRKAR1B 5575 ENSG00000188191 Prkar1b (MGI:97759) -chr7 726691 786477 7p22.3 7p22.3 614864 DNAAF5, HEATR2, CILD18 Dynein axonemal assembly factor 5 DNAAF5 54919 ENSG00000164818 Ciliary dyskinesia, primary, 18, 614874 (3), Autosomal recessive Dnaaf5 (MGI:3616079) -chr7 815556 874933 7p22.3 7p22.3 607723 SUN1, UNC84A, KIAA0810 SAD1 and UNC84 domain-containing protein 1 SUN1 23353 ENSG00000164828 Sun1 (MGI:1924303) -chr7 876553 896435 7p22.3 7p22.3 612056 GET4, C7orf20, CEE Guided entry of tail-anchored proteins factor 4 GET4 51608 ENSG00000239857 Get4 (MGI:1914854) -chr7 897899 955406 7p22.3 7p22.3 608114 CENTA1 Centaurin, alpha-1 ADAP1 11033 ENSG00000105963 Adap1 (MGI:2442201) -chr7 964851 975548 7p22.3 7p22.3 610429 COX19 Cytochrome c oxidase assembly protein Cox19 COX19 90639 ENSG00000240230 Cox19 (MGI:1915283) -chr7 983154 989639 7p22.3 7p22.3 615967 CYP2W1 Cytochrome P450, family 2, subfamily W, polypeptide 1 CYP2W1 54905 ENSG00000073067 Cyp2w1 (MGI:3616076) -chr7 1022932 1023025 7p22.3 7p22.3 615977 MIR339 Micro RNA 339 MIR339 442907 ENSG00000199023 Mir339 (MGI:3619354) -chr7 1087117 1093809 7p22 7p22.3 601805 GPER1, CMKRL2, GPR30 G protein-coupled estrogen receptor 1 GPER1 2852 ENSG00000164850 Gper1 (MGI:1924104) -chr7 1148849 1160195 7p22.3 7p22.3 610699 ZFAND2A, AIRAP Zinc finger AN1 domain-containing protein 2A ZFAND2A 90637 ENSG00000178381 Zfand2a (MGI:2140729) -chr7 1470276 1504388 7p22.3 7p22.3 611345 INTS1, INT1, KIAA1440, NDCAGF Integrator complex subunit 1 INTS1 26173 ENSG00000164880 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 (3), Autosomal recessive Ints1 (MGI:1915760) -chr7 1530701 1543042 7p22 7p22.3 600197 MAFK, NFE2U MAF bZIP transcription factor K MAFK 7975 ENSG00000198517 Mafk (MGI:99951) -chr7 1567331 1570031 7p22.3 7p22.3 617528 PSMG3, PAC3 Proteasome assembly chaperone 3 PSMG3 84262 ENSG00000157778 Psmg3 (MGI:1913756) -chr7 1666063 1747953 7p22.3 7p22.3 614964 ELFN1, PPP1R28 Extracellular leucine-rich repeat and fibronectin type III domain-containing protein 1 ELFN1 392617 ENSG00000225968 Elfn1 (MGI:2442479) -chr7 1815794 2232944 7p22 7p22.3 602686 MAD1L1, TXBP181 Mitotic arrest-deficient 1, yeast, homolog-like 1 MAD1L1 8379 ENSG00000002822 Prostate cancer, somatic, 176807 (3); Lymphoma, somatic (3) Mad1l1 (MGI:1341857) -chr7 2234194 2242204 7p22 7p22.3 606906 MRM2, FTSJ2, FJH1, MTDPS17 Mitochondrial ribosomal RNA methyltransferase 2 MRM2 29960 ENSG00000122687 mutation identified in 1 MTDPS17 patient ?Mitochondrial DNA depletion syndrome 17, 618567 (3), Autosomal recessive Mrm2 (MGI:1915267) -chr7 2242225 2251144 7p22 7p22.3 600312 NUDT1, MTH1 Nudix-type motif 1 NUDT1 4521 ENSG00000106268 Nudt1 (MGI:109280) -chr7 2251769 2354476 7p22.3 7p22.3 614905 SNX8 Sorting nexin 8 SNX8 29886 ENSG00000106266 Snx8 (MGI:2443816) -chr7 2354085 2380744 7p22.2 7p22.3 603917 EIF3B, EIF3S9, PRT1 Eukaryotic translation initiation factor 3, subunit B EIF3B 8662 ENSG00000106263 Eif3b (MGI:106478) -chr7 2403488 2448483 7p22 7p22.3 610129 CHST12, C4ST2 Carbohydrate sulfotransferase 12 CHST12 55501 ENSG00000136213 Chst12 (MGI:1929064) -chr7 2474727 2476397 7p22.3 7p22.3 619187 GRIFIN Galectin-related interfiber protein GRIFIN 402635 Grifin (MGI:1925248) -chr7 2512528 2529176 7p22 7p22.3 602576 LFNG, SCDO3 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase LFNG 3955 ENSG00000106003 Spondylocostal dysostosis 3, autosomal recessive, 609813 (3), Autosomal recessive Lfng (MGI:1095413) -chr7 2537809 2555752 7p22.3 7p22.3 614506 BRAT1, BAAT1, C7orf27, RMFSL, NEDCAS BRCA1-associated ATM activator 1 BRAT1 221927 ENSG00000106009 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3), Autosomal recessive; Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3), Autosomal recessive Brat1 (MGI:1891679) -chr7 2558977 2614728 7p22.3 7p22.3 617631 IQCE, KIAA1023, PAPA7 IQ domain-containing protein E IQCE 23288 ENSG00000106012 Polydactyly, postaxial, type A7, 617642 (3), Autosomal recessive Iqce (MGI:1921489) -chr7 2631985 2664801 7p22.3 7p22.3 608919 TTYH3, KIAA1691 Tweety family member 3 TTYH3 80727 ENSG00000136295 Ttyh3 (MGI:1925589) -chr7 2679521 2765186 7p22.3 7p22.3 615168 AMZ1, KIAA1950 Archaelysin family metallopeptidase 1 AMZ1 155185 ENSG00000174945 Amz1 (MGI:2442258) -chr7 2728104 2844307 7p22.2 7p22.3-p22.2 604394 GNA12 Guanine nucleotide-binding protein, alpha-12 GNA12 2768 ENSG00000146535 Gna12 (MGI:95767) -chr7 2906141 3043866 7p22 7p22.2 607210 CARD11, CARMA1, BIMP3, PPBL, BENTA, IMD11A Caspase recruitment domain-containing protein 11 CARD11 84433 ENSG00000198286 B-cell expansion with NFKB and T-cell anergy, 616452 (3), Autosomal dominant; Immunodeficiency 11B with atopic dermatitis, 617638 (3), Autosomal dominant; Immunodeficiency 11A, 615206 (3), Autosomal recessive Card11 (MGI:1916978) -chr7 3301251 4268999 7p22.2 7p22.2 607216 SDK1 Sidekick cell adhesion molecule 1 SDK1 221935 ENSG00000146555 Sdk1 (MGI:2444413) -chr7 4500000 7200000 7p22 605626 ERVK-6 Endogenous retroviral group K, member 6 ERVK-6 64006 -chr7 4500000 7200000 7p22.1 185100 STBMS1 Strabismus, susceptibility to, 1 100188805 max lod at marker 1911/1912 {Strabismus, susceptibility to, 1}, 185100 (2) -chr7 4682294 4771441 7p22.1 7p22.1 616302 FOXK1, MNF Forkhead box K1 FOXK1 221937 ENSG00000164916 Foxk1 (MGI:1347488) -chr7 4775622 4794396 7p22.1 7p22.1 613653 AP5Z1, KIAA0415, SPG48 Adaptor-related protein complex 5, zeta-1 subunit AP5Z1 9907 ENSG00000242802 Spastic paraplegia 48, autosomal recessive, 613647 (3), Autosomal recessive Ap5z1 (MGI:1924908) -chr7 4797054 4883715 7p22.1 7p22.1 611491 RADIL, KIAA1849 RAP GTPase interactor RADIL 55698 ENSG00000157927 Radil (MGI:2443088) -chr7 4857737 4862029 7p22.1 7p22.1 607436 PAPOLB, TPAP Poly(A) polymerase, beta PAPOLB 56903 ENSG00000218823 Papolb (MGI:1932115) -chr7 4892244 4959186 7p22.1 7p22.1 614581 MMD2, PAQR10 Monocyte-to-macrophage differentiation-associated protein 2 MMD2 221938 ENSG00000136297 Mmd2 (MGI:1922354) -chr7 5045859 5069486 7p22.1 7p22.1 608191 RBAK RB-associated KRAB zinc finger RBAK 57786 ENSG00000146587 Rbak (MGI:1927369) -chr7 5190232 5233854 7p22.2 7p22.1 609225 WIPI2, IDDSSA WD40 repeat protein interacting with phosphoinositides 2 WIPI2 26100 ENSG00000157954 mutation identified in 1 IDDSSA family ?Intellectual developmental disorder with short stature and variable skeletal anomalies, 618453 (3), Autosomal recessive Wipi2 (MGI:1923831) -chr7 5274310 5306911 7p22.1 7p22.1 609149 SLC29A4, PMAT, ENT4 Solute carrier family 29 (monoamine transporter), member 4 SLC29A4 222962 ENSG00000164638 Slc29a4 (MGI:2385330) -chr7 5454424 5513808 7p22.1 7p22.1 609084 FBXL18, FBL18 F-box and leucine-rich repeat protein 18 FBXL18 80028 ENSG00000155034 Fbxl18 (MGI:2444450) -chr7 5527147 5530600 7p22-p12 7p22.1 102630 ACTB, BRWS1 Actin, beta ACTB 60 ENSG00000075624 ~20 pseudogenes also; mutation identified in twin DJO patients Baraitser-Winter syndrome 1, 243310 (3), Autosomal dominant; ?Dystonia, juvenile-onset, 607371 (3), Autosomal dominant Actb (MGI:87904) -chr7 5592815 5606654 7p22 7p22.1 602689 FSCN1, SNL Fascin homolog 1, actin-bundling protein (singed, Drosophila, homolog-like) FSCN1 6624 ENSG00000075618 Fscn1 (MGI:1352745) -chr7 5620046 5781720 7p22 7p22.1 609948 RNF216, TRIAD3, ZIN, CAHH RING finger protein 216 RNF216 54476 ENSG00000011275 Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3), Autosomal recessive Rnf216 (MGI:1344349) -chr7 5859717 5886362 7p13-p11 7p22.1 164795 OCM Oncomodulin OCM 654231 ENSG00000122543 Ocm (MGI:97401) -chr7 5970924 6009105 7p22 7p22.1 600259 PMS2, PMSL2, HNPCC4, MMRCS4 PMS1 homolog 2, mismatch repair system component PMS2 5395 ENSG00000122512 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3); Mismatch repair cancer syndrome 4, 619101 (3), Autosomal recessive Pms2 (MGI:104288) -chr7 6009271 6023833 7p22 7p22.1 600859 AIMP2, JTV1, HLD17 Aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 AIMP2 7965 ENSG00000106305 Leukodystrophy, hypomyelinating, 17, 618006 (3), Autosomal recessive Aimp2 (MGI:2385237) -chr7 6022246 6059174 7p22.1 7p22.1 613635 EIF2AK1, HRI, LEMSPAD Eukaryotic translation initiation factor 2-alpha kinase 1 EIF2AK1 27102 ENSG00000086232 mutation identified in 1 LEMSPAD patient ?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome, 618878 (3) Eif2ak1 (MGI:1353448) -chr7 6161778 6272623 7p22.1 7p22.1 605081 CYTH3, PSCD3, ARNO3, GRP1 Cytohesin 3 CYTH3 9265 ENSG00000008256 Cyth3 (MGI:1335107) -chr7 6329410 6348966 7p22.1 7p22.1 616628 FAM220A, SIPAR, ACPIN1, C7orf70 Family with sequence similarity 220, member A FAM220A 84792 ENSG00000178397 Fam220a (MGI:1914488) -chr7 6374526 6403966 7p22.1 7p22.1 602048 RAC1, MRD48 Rac family small GTPase 1 RAC1 5879 ENSG00000136238 Mental retardation, autosomal dominant 48, 617751 (3), Autosomal dominant Rac1 (MGI:97845) -chr7 6409128 6447953 7p22.1 7p22.1 614016 DAGLB Diacylglycerol lipase, beta DAGLB 221955 ENSG00000164535 Daglb (MGI:2442032) -chr7 6461088 6484151 7p22.1 7p22.1 609024 KDELR2, ELP1, OI21 KDEL endoplasmic reticulum protein retention receptor 2 KDELR2 11014 ENSG00000136240 Osteogenesis imperfecta 21, 619131 (3), Autosomal recessive Kdelr2 (MGI:1914163) -chr7 6496777 6551460 7p22.1 7p22.1 610639 GRID2IP1 GRID2-interacting protein 1 GRID2IP 392862 ENSG00000215045 Grid2ip (MGI:2176213) -chr7 6688432 6706946 7p22-p21 7p22.1 194536 ZNF12 Zinc finger protein-12 (KOX3) ZNF12 7559 ENSG00000164631 Zfp12 (MGI:99157) -chr7 7182543 7248615 7p14-p13 7p22.1-p21.3 610555 C1GALT1 Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 C1GALT1 56913 ENSG00000106392 C1galt1 (MGI:2151071) -chr7 7200000 16500000 7p21.3-p21.2 616986 LOC105375159 Long intergenic noncoding RNA AC011288.2 -chr7 7338541 7542093 7p21.3 7p21.3 609996 COL28A1 Collagen, type XXVIII, alpha-1 polypeptide COL28A1 340267 ENSG00000215018 Col28a1 (MGI:2685312) -chr7 7566874 7609143 7p21.3 7p21.3 615359 MIOS Missing oocyte/meiosis regulator, Drosophila, homolog of MIOS 54468 ENSG00000164654 Mios (MGI:2182066) -chr7 7636517 7718606 7p22 7p21.3 179837 RPA3 Replication protein A3, 14kD RPA3 6119 ENSG00000106399 Rpa3 (MGI:1915490) -chr7 7968795 8089079 7p22 7p21.3 614283 GLCCI1, TSSN1, GCTR Glucocorticoid-induced transcript 1 GLCCI1 113263 ENSG00000106415 {Glucocorticoid therapy, response to}, 614400 (3) Glcci1 (MGI:2179717) -chr7 8113183 8262686 7p22 7p21.3 147625 ICA1 Islet cell autoantigen 1, 69kD ICA1 3382 ENSG00000003147 Ica1 (MGI:96391) -chr7 8433608 8752960 7p21.3 7p21.3 604639 NXPH1, NPH1 Neurexophilin 1 NXPH1 30010 ENSG00000122584 Nxph1 (MGI:107492) -chr7 10931942 10940152 7p21.3 7p21.3 603833 COXFA4, NDUFA4, MC4DN21 Cytochrome c oxidase subunit FA4 NDUFA4 4697 ENSG00000189043 mutation identified in 1 MC4DN21 family ?Mitochondrial complex IV deficiency, nuclear type 21, 619065 (3), Autosomal recessive Ndufa4 (MGI:107686) -chr7 11370364 11832197 7p21.3 7p21.3 612249 THSD7A, KIAA0960 Thrombospondin type-1 domain-containing protein 7A THSD7A 221981 ENSG00000005108 Thsd7a (MGI:2685683) -chr7 12211293 12243366 7p21.3 7p21.3 613413 TMEM106B, HLD16 Transmembrane protein 106B TMEM106B 54664 ENSG00000106460 Leukodystrophy, hypomyelinating, 16, 617964 (3), Autosomal dominant Tmem106b (MGI:1919150) -chr7 12570719 12660181 7p21.3 7p21.3 613416 SCIN, KIAA1905 Scinderin SCIN 85477 ENSG00000006747 Scin (MGI:1306794) -chr7 12686902 12690957 7p21.3 7p21.3 604786 ARL4A, ARL4 ADP ribosylation factor-like GTPase 4A ARL4A 10124 ENSG00000122644 Arl4a (MGI:99437) -chr7 13700000 34900000 7p21.2-p14.3 613576 EDSS2 Ectodermal dysplasia-syndactyly syndrome 2 100505394 between D7S488 and D7S817 Ectodermal dysplasia-syndactyly syndrome 2, 613576 (2), Autosomal recessive -chr7 13700000 16500000 7p21.2 613462 FGQTL4 Fasting plasma glucose level QTL 4 100499169 associated with rs2191349 [Fasting plasma glucose level QTL 4], 613462 (2) -chr7 13891228 13991424 7p22 7p21.2 600541 ETV1 ETS variant transcription factor 1 ETV1 2115 ENSG00000006468 fused with EWS in some Ewing sarcoma Etv1 (MGI:99254) -chr7 14145048 14974857 7p21.2 7p21.2 604070 DGKB, DGK, KIAA0718 Diacylglycerol kinase, beta, 90kD DGKB 1607 ENSG00000136267 Dgkb (MGI:2442474) -chr7 15117222 15562014 7p21.2 7p21.2 613738 AGMO, TMEM195 Alkylglycerol monooxygenase AGMO 392636 ENSG00000187546 Agmo (MGI:2442495) -chr7 15611211 15686682 7p22.1-p21.3 7p21.2 600535 MEOX2 Mesenchyme homeo box 2 MEOX2 4223 ENSG00000106511 Meox2 (MGI:103219) -chr7 16087524 16421537 7p21.2 7p21.2 614631 CRPPA, ISPD, MDDGA7, MDDGC7, LGMDR20 CDP-L-ribitol pyrophosphorylase A CRPPA 729920 ENSG00000214960 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3), Autosomal recessive Crppa (MGI:1923097) -chr7 16461480 16465737 7p21.2 7p21.2 609675 SOSTDC1, ECTODIN, USAG1 Sclerostin domain-containing protein 1 SOSTDC1 25928 ENSG00000171243 Sostdc1 (MGI:1913292) -chr7 16500000 28800000 7p21-p15 153880 MDDC Macular dystrophy, dominant cystoid 1541 ?allelic to RP9 Macular dystrophy, dominant cystoid, 153880 (2), Autosomal dominant -chr7 16646180 16706521 7p21.1 7p21.1 619275 BZW2, 5MP1 Basic leucine zipper domain- and W2 domain-containing protein 2 BZW2 28969 ENSG00000136261 Bzw2 (MGI:1914162) -chr7 16753754 16784535 7p21.1 7p21.1 613139 TSPAN13, NET6 Tetraspanin 13 TSPAN13 27075 ENSG00000106537 Tspan13 (MGI:1913359) -chr7 16791810 16804998 7p21.3 7p21.1 606358 AGR2, AG2 Anterior gradient 2, Xenopus, homolog of AGR2 10551 ENSG00000106541 Agr2 (MGI:1344405) -chr7 16854710 16881982 7p21.3 7p21.1 609482 AGR3, BCMP11 Anterior gradient 3, Xenopus, homolog of AGR3 155465 ENSG00000173467 Agr3 (MGI:2685734) -chr7 17298651 17346146 7p15 7p21.1 600253 AHR, RP85 Aryl hydrocarbon receptor AHR 196 ENSG00000106546 mutation identified in 1 RP85 family ?Retinitis pigmentosa 85, 618345 (3), Autosomal recessive Ahr (MGI:105043) -chr7 17790760 17940506 7p21.1 7p21.1 606589 SNX13, KIAA0713 Sorting nexin 13 SNX13 23161 ENSG00000071189 Snx13 (MGI:2661416) -chr7 18026769 18027845 7p21.2 7p21.1 611566 PRPS1L1, PRPS3 Phosphoribosylpyrophosphate synthetase 1-like 1 PRPS1L1 221823 ENSG00000229937 Prps1l1 (MGI:1922706) -chr7 18086824 19002415 7p21-p15 7p21.1 606543 HDAC9, MITR, HDAC7B, KIAA0744 Histone deacetylase 9 HDAC9 9734 ENSG00000048052 Hdac9 (MGI:1931221) -chr7 19113046 19117635 7p21 7p21.1 601622 TWIST1, ACS3, SCS, CRS1, SWCOS TWIST, Drosophila, homolog of, 1 TWIST1 7291 ENSG00000122691 Craniosynostosis 1, 123100 (3), Autosomal dominant; Robinow-Sorauf syndrome, 180750 (3), Autosomal dominant; Sweeney-Cox syndrome, 617746 (3), Autosomal dominant; Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 (3), Autosomal dominant Twist1 (MGI:98872) -chr7 19144781 19145420 7p21.1 7p21.1 617578 FERD3L, NTWIST, NATO3, PTFB FER3-like bHLH transcription factor FERD3L 222894 ENSG00000146618 Ferd3l (MGI:2150010) -chr7 19695460 19709036 7p21 7p21.1 608312 TWISTNB TWIST neighbor POLR1F 221830 ENSG00000105849 pseudogene on 6q14.3 Polr1f (MGI:106292) -chr7 20134654 20217383 7p21.1 7p21.1 612646 MACC1 MET transcriptional regulator MACC1 MACC1 346389 ENSG00000183742 Macc1 (MGI:2685113) -chr7 20329818 20415753 7p21.1 7p21.1 604160 ITGB8 Integrin, beta-8 ITGB8 3696 ENSG00000105855 Itgb8 (MGI:1338035) -chr7 20615666 20757007 7p15.3 7p21.1 611785 ABCB5 ATP-binding cassette, subfamily B, member 5 ABCB5 340273 ENSG00000004846 Abcb5 (MGI:1924956) -chr7 20782278 20786885 7p21 7p21.1 608306 SP8, BTD Transcription factor Sp8 SP8 221833 ENSG00000164651 Sp8 (MGI:2443471) -chr7 21428082 21514821 7p15 7p15.3 600540 SP4 Sp4 transcription factor SP4 6671 ENSG00000105866 Sp4 (MGI:107595) -chr7 21543038 21901838 7p21 7p15.3 603339 DNAH11, DNAHC11, CILD7, DNAHBL Dynein, axonemal, heavy chain-11 DNAH11 8701 ENSG00000105877 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3), Autosomal recessive Dnah11 (MGI:1100864) -chr7 21900898 21945898 7p15 7p15.3 609685 CDCA7L, R1, JPO2 Cell division cycle-associated protein 7-like CDCA7L 55536 ENSG00000164649 Cdca7l (MGI:2384982) -chr7 22118235 22357153 7p15.3 7p15.3 609527 RAPGEF5, GFR, MRGEF, KIAA0277 RAP guanine nucleotide exchange factor 5 RAPGEF5 9771 ENSG00000136237 Rapgef5 (MGI:2444365) -chr7 22725888 22732001 7p21 7p15.3 147620 IL6, IFNB2, BSF2, HSF, HGF Interleukin-6 (interferon, beta-2) IL6 3569 ENSG00000136244 {Type 2 diabetes mellitus}, 125853 (3), Autosomal dominant; {Rheumatoid arthritis, systemic juvenile}, 604302 (3); {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3), Somatic mutation; {Type 1 diabetes mellitus}, 222100 (3), Autosomal recessive; {Crohn disease-associated growth failure}, 266600 (3), Multifactorial; {Kaposi sarcoma, susceptibility to}, 148000 (3), Autosomal dominant Il6 (MGI:96559) -chr7 22812973 22822848 7p15.3 7p15.3 607980 TOMM7 Translocase of outer mitochondrial membrane 7 TOMM7 54543 ENSG00000196683 Tomm7 (MGI:1913419) -chr7 22895847 23014132 7p15.3 7p15.3 610531 FAM126A, DRCTNNB1A, HLD5 Hyccin FAM126A 84668 ENSG00000122591 Leukodystrophy, hypomyelinating, 5, 610532 (3), Autosomal recessive Fam126a (MGI:2149839) -chr7 23105784 23177913 7p15.3 7p15.3 611119 KLHL7, RP42, PERCHING Kelch-like 7 KLHL7 55975 ENSG00000122550 Retinitis pigmentosa 42, 612943 (3), Autosomal dominant; PERCHING syndrome, 617055 (3), Autosomal recessive Klhl7 (MGI:1196453) -chr7 23246765 23275109 7p15.3 7p15.3 604368 GPNMB, PLCA3 Glycoprotein NMB GPNMB 10457 ENSG00000136235 Amyloidosis, primary localized cutaneous, 3, 617920 (3), Autosomal recessive Gpnmb (MGI:1934765) -chr7 23298743 23311728 7p15.3 7p15.3 614624 MALSU1, C7orf30 Mitochondrial assembly of ribosomal large subunit 1 MALSU1 115416 ENSG00000156928 Malsu1 (MGI:1922843) -chr7 23310208 23470673 7p15 7p15.3 608259 IGF2BP3, IMP3, KOC1, VICKZ3 Insulin-like growth factor 2 mRNA-binding protein 3 IGF2BP3 10643 ENSG00000136231 Igf2bp3 (MGI:1890359) -chr7 23504779 23531980 7p15.3 7p15.3 602718 TRA2A Transformer 2 alpha homolog TRA2A 29896 ENSG00000164548 Tra2a (MGI:1933972) -chr7 23710139 23832514 7p15.3 7p15.3 605790 STK31 Serine/threonine kinase 31 STK31 56164 ENSG00000196335 Stk31 (MGI:1924735) -chr7 24284189 24291861 7p15.1 7p15.3 162640 NPY Neuropeptide Y NPY 4852 ENSG00000122585 Npy (MGI:97374) -chr7 24573352 24694192 7p21-p15 7p15.3 606959 MPP6, VAM1, PALS2 Membrane protein, palmitoylated 6 PALS2 51678 ENSG00000105926 Pals2 (MGI:1927340) -chr7 24698354 24762234 7p15 7p15.3 608798 GSDME, DFNA5 Gasdermin E GSDME 1687 ENSG00000105928 Deafness, autosomal dominant 5, 600994 (3), Autosomal dominant Gsdme (MGI:1889850) -chr7 24796536 24980217 7p15 7p15.3 606732 OSBPL3, ORP3, KIAA0704 Oxysterol-binding protein-like protein 3 OSBPL3 26031 ENSG00000070882 Osbpl3 (MGI:1918970) -chr7 25118655 25125259 7p15.2 7p15.3 123970 CYCS, CYC, THC4 Cytochrome C, somatic CYCS 54205 ENSG00000172115 Thrombocytopenia 4, 612004 (3), Autosomal dominant Cycs,Gm10053 (MGI:88578,MGI:3704493) -chr7 25134691 25180353 7p15.3 7p15.3 616071 C7orf31 Chromosome 7 open reading frame 31 C7orf31 136895 ENSG00000153790 4921507P07Rik (MGI:1918071) -chr7 25224569 25228485 7p15.3 7p15.3 616984 NPVF, RFRP, C7orf9 Neuropeptide VF precursor NPVF 64111 ENSG00000105954 Npvf (MGI:1926488) -chr7 25949918 25949985 7p15.2 7p15.2 613786 MIR148A, MIRN148A Micro RNA 148A MIR148A 406940 ENSG00000199085 Mir148a (MGI:2676833) -chr7 26152197 26187136 7p15-p14 7p15.2 604135 NFE2L3, NRF3 Nuclear factor erythroid 2-like 3 NFE2L3 9603 ENSG00000050344 Nfe2l3 (MGI:1339958) -chr7 26189919 26200774 7p15 7p15.2 600124 HNRPA2B1, IBMPFD2 Heterogeneous nuclear ribonucleoprotein A2/B1 HNRNPA2B1 3181 ENSG00000122566 mutation identified in 1 family ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422 (3) Hnrnpa2b1 (MGI:104819) -chr7 26201442 26213606 7p15.2 7p15.2 604477 CBX3 Chromobox homolog 3 CBX3 11335 ENSG00000122565 Cbx3,Cbx3-ps7 (MGI:108515,MGI:3704187) -chr7 26291861 26374382 7p15.2 7p15.2 614780 SNX10, OPTB8 Sorting nexin 10 SNX10 29887 ENSG00000086300 Osteopetrosis, autosomal recessive 8, 615085 (3), Autosomal recessive Snx10 (MGI:1919232) -chr7 26654771 26864622 7p15.2 7p15.2 605215 SKAP2, SCAP2, SKAP55R src kinase associated phosphoprotein 2 SKAP2 8935 ENSG00000005020 Skap2 (MGI:1889206) -chr7 27092992 27095999 7p15.3 7p15.2 142955 HOXA1, HOX1F, BSAS Homeo box-A1 HOXA1 3198 ENSG00000105991 Bosley-Salih-Alorainy syndrome, 601536 (3), Autosomal recessive; Athabaskan brainstem dysgenesis syndrome, 601536 (3), Autosomal recessive Hoxa1 (MGI:96170) -chr7 27100353 27102682 7p15-p14 7p15.2 604685 HOXA2, MCOHI Homeobox A2 HOXA2 3199 ENSG00000105996 mutation identified in 1 MCOHICP family Microtia with or without hearing impairment (AD), 612290 (3), Autosomal dominant, Autosomal recessive; ?Microtia, hearing impairment, and cleft palate (AR), 612290 (3), Autosomal dominant, Autosomal recessive Hoxa2 (MGI:96174) -chr7 27107009 27152582 7p15-p14.2 7p15.2 142954 HOXA3, HOX1E Homeo box-A3 HOXA3 3200 ENSG00000105997 homolog of Drosophila zen1, zen2 Hoxa3 (MGI:96175) -chr7 27121918 27128759 7p15.2 7p15.2 616068 HOXAAS2 HOXA cluster antisense RNA 2 HOXA-AS2 285943 -chr7 27128524 27130756 7p15-p14.2 7p15.2 142953 HOXA4, HOX1D Homeo box-A4 HOXA4 3201 ENSG00000197576 homolog of Drosophila Dfd Hoxa4 (MGI:96176) -chr7 27140363 27155927 7p15.2 7p15.2 618706 HOXAAS3 HOXA cluster antisense RNA 3, noncoding HOXA-AS3 100133311 ENSG00000254369 Hoxaas3 (MGI:1919878) -chr7 27141051 27143680 7p15-p14.2 7p15.2 142952 HOXA5, HOX1C Homeo box-A5 HOXA5 3202 ENSG00000106004 Hoxa5 (MGI:96177) -chr7 27145395 27147773 7p15-p14.2 7p15.2 142951 HOXA6, HOX1B Homeo box-A6 HOXA6 3203 ENSG00000106006 Hoxa6 (MGI:96178) -chr7 27153715 27156674 7p15-p14.2 7p15.2 142950 HOXA7, HOX1A Homeo box-A7 HOXA7 3204 ENSG00000122592 homolog of Drosophila Antp Hoxa7 (MGI:96179) -chr7 27162437 27165536 7p15-p14.2 7p15.2 142956 HOXA9, HOX1G Homeo box-A9 HOXA9 3205 ENSG00000078399 homolog of Drosophila Abd-B; fused to NUP98 in myeloid leukemia Hoxa9 (MGI:96180) -chr7 27169479 27169562 7p15-p14.2 7p15.2 609688 MIR196B, MIRN196B Micro RNA 196B MIR196B 442920 ENSG00000283745 Mir196b (MGI:3618741) -chr7 27170604 27179860 7p15-p14.2 7p15.2 142957 HOXA10, HOX1H Homeo box-A10 HOXA10 3206 ENSG00000253293 Hoxa10 (MGI:96171) -chr7 27181156 27185231 7p15-p14.2 7p15.2 142958 HOXA11, HOX1I, RUSAT1 Homeo box-A11 HOXA11 3207 ENSG00000005073 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3), Autosomal dominant Hoxa11 (MGI:96172) -chr7 27185407 27189292 7p15.2 7p15.2 607530 HOXA11AS Homeo box A11, antisense HOXA11-AS 221883 ENSG00000240990 Hoxa11os (MGI:107208) -chr7 27194363 27200090 7p15-p14.2 7p15.2 142959 HOXA13, HOX1J Homeo box-A13 HOXA13 3209 ENSG00000106031 mutation identified in 1 GTMS family Hand-foot-uterus syndrome, 140000 (3), Autosomal dominant; ?Guttmacher syndrome, 176305 (3), Autosomal dominant Hoxa13 (MGI:96173) -chr7 27200420 27207258 7p15.2 7p15.2 614060 HOTTIP, NCRNA00213 HOXA distal transcript antisense RNA HOTTIP 100316868 Hottip (MGI:3642509) -chr7 27242801 27247829 7p15-p14 7p15.2 142996 EVX1 Even-skipped homeo box-1 (homolog of Drosophila) EVX1 2128 ENSG00000106038 at 5' end of HOX1 cluster Evx1 (MGI:95461) -chr7 27525439 27662902 7p15.2 7p15.2 608475 HIBADH 3-hydroxyisobutyrate dehydrogenase HIBADH 11112 ENSG00000106049 Hibadh (MGI:1889802) -chr7 27739372 27829766 7p15 7p15.2 605326 TAX1BP1, TXBP151 TAX1-binding protein 1 TAX1BP1 8887 ENSG00000106052 Tax1bp1 (MGI:1289308) -chr7 27830572 28180794 7p15 7p15.2-p15.1 606246 JAZF1, TIP27 JAZF zinc finger 1 JAZF1 221895 ENSG00000153814 fused with JJAZ1 Jazf1 (MGI:2141450) -chr7 27900000 45400000 7p15-p13 613219 FGQTL2, BWQTL1 Fasting plasma glucose level QTL 2; Birth weight QTL 1 100379216 associated with rs4607517 [Fasting plasma glucose level QTL 2], 613219 (2); [Birth weight QTL 1], 613219 (2) -chr7 27900000 28800000 7p15 164865 MYCLK1 Avian myelocytomatosis viral (v-myc) oncogene homolog like 1 -chr7 27900000 28800000 7p15 608367 MYP17, MYP4 Myopia 17 100359401 previously assigned to 7q36 (MYP4) Myopia 17, 608367 (2), Autosomal dominant -chr7 27900000 28800000 7p15 612737 STQTL17 Stature quantitative trait locus 17 100301526 associated with rs1635852 and rs849140 {Stature QTL 17}, 612737 (2) -chr7 28299320 28825893 7p15.1-p14.3 7p15.1-p14.3 618262 CREB5, CREBPA cAMP response element-binding protein 5 CREB5 9586 ENSG00000146592 Creb5 (MGI:2443973) -chr7 28953357 28958329 7p14.3 7p14.3 613356 TRIL, KIAA0644 TLR4 interactor with leucine-rich repeats TRIL 9865 ENSG00000255690 Tril (MGI:1914123) -chr7 28994635 29195450 7p15-p14 7p14.3 609780 CPVL, HVLP Carboxypeptidase, vitellogenic-like CPVL 54504 ENSG00000106066 Cpvl (MGI:1918537) -chr7 29146546 29514334 7p15.3 7p14.3 602857 CHN2, ARHGAP3, RHOGAP3 Chimerin 2 (GTPase-activating protein, rho, 3) CHN2 1124 ENSG00000106069 Chn2 (MGI:1917243) -chr7 29563834 29567299 7p14.3 7p14.3 618344 PRR15 Proline-rich protein 15 PRR15 222171 ENSG00000176532 Prr15 (MGI:1925254) -chr7 29806507 29917064 7p15.1 7p14.3 612432 WIPF3, CR16 WAS/WASL-interacting protein family, member 3 WIPF3 644150 ENSG00000122574 Wipf3 (MGI:3044681) -chr7 29920102 29990288 7p14.3-p14.1 7p14.3 614965 SCRN1, SES1, KIAA0193 Secernin 1 SCRN1 9805 ENSG00000136193 Scrn1 (MGI:1917188) -chr7 30010586 30026701 7p15.1 7p14.3 614505 FKBP14, EDSKSCL2 FK506-binding protein 14 FKBP14 55033 ENSG00000106080 Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3), Autosomal recessive Fkbp14 (MGI:2387639) -chr7 30028411 30130482 7p21-p11.2 7p14.3 608639 FAPP2 Phosphatidylinositol 4-phosphate adaptor protein 2 PLEKHA8 84725 ENSG00000106086 Plekha8 (MGI:2681164) -chr7 30284596 30367688 7p15.1 7p14.3 612061 ZNRF2 Zinc finger and ring finger protein 2 ZNRF2 223082 ENSG00000180233 Znrf2 (MGI:1196246) -chr7 30424526 30478839 7p15-p14 7p14.3 605980 NOD1, CARD4 Nucleotide-binding oligomerization domain protein 1 NOD1 10392 ENSG00000106100 Nod1 (MGI:1341839) -chr7 30496620 30504828 7p15-p14 7p14.3 137170 GGCT, GCTG, C7orf24 Gamma-glutamylcyclotransferase GGCT 79017 ENSG00000006625 Ggct (MGI:95700) -chr7 30594734 30634032 7p15 7p14.3 600287 GARS1, GARS, SMAD1, CMT2D, HMN5A, SMAJI Glycyl-tRNA synthetase 1 GARS1 2617 ENSG00000106105 Spinal muscular atrophy, infantile, James type, 619042 (3), Autosomal dominant; Neuronopathy, distal hereditary motor, type VA, 600794 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2D, 601472 (3), Autosomal dominant Gars (MGI:2449057) -chr7 30649405 30700102 7p21-p15 7p14.3 602034 CRHR2, CRFR2 Corticotropin releasing hormone receptor-2 CRHR2 1395 ENSG00000106113 Crhr2 (MGI:894312) -chr7 30752134 30757601 7p15.3-p15.2 7p14.3 604854 INMT Indolethylamine N-methyltransferase INMT 11185 ENSG00000241644 Inmt (MGI:102963) -chr7 30911852 30925515 7p14 7p14.3 107776 AQP1, CHIP28, CO Aquaporin-1 (channel-forming integral protein, 28kD) AQP1 358 ENSG00000240583 [Aquaporin-1 deficiency], 110450 (3); [Blood group, Colton], 110450 (3) Aqp1 (MGI:103201) -chr7 30963952 30979527 7p15-p14 7p14.3 139191 GHRHR, GHRFR, IGHD4 Growth hormone releasing hormone receptor GHRHR 2692 ENSG00000106128 Growth hormone deficiency, isolated, type IV, 618157 (3), Autosomal recessive Ghrhr (MGI:95710) -chr7 31052307 31111473 7p14 7p14.3 102981 ADCYAP1R1, PACAPR ADCYAP receptor, type I ADCYAP1R1 117 ENSG00000078549 Adcyap1r1 (MGI:108449) -chr7 31337464 31340725 7p15-p14 7p14.3 611513 NEUROD6, ATOH2, MATH2 Neurogenic differentiation 6 NEUROD6 63974 ENSG00000164600 Neurod6 (MGI:106593) -chr7 31616776 32428223 7p14.3 7p14.3 602987 PDE1C, HCAM3, DFNA74 Phosphodiesterase 1C PDE1C 5137 ENSG00000154678 mutation identified in 1 DFNA74 family ?Deafness, autosomal dominant 74, 618140 (3), Autosomal dominant Pde1c (MGI:108413) -chr7 31687214 31710157 7p15 7p14.3 604088 GSBS G-substrate PPP1R17 10842 ENSG00000106341 {Hypercholesterolemia, susceptibility to}, 143890 (3), Autosomal dominant, Autosomal recessive Ppp1r17 (MGI:1333876) -chr7 32485337 32495282 7p14.3 7p14.3 607285 LSM5 LSM5 protein LSM5 23658 ENSG00000106355 Lsm5 (MGI:1913623) -chr7 32495488 32588725 7p14.3 7p14.3 612927 AVL9, KIAA0241 AVL9, S. cerevisiae, homolog of AVL9 23080 ENSG00000105778 Avl9 (MGI:1926187) -chr7 32868171 32892143 7p14.3 7p14.3 619393 KBTBD2 Kelch repeat- and BTB domain-containing protein 2 KBTBD2 25948 ENSG00000170852 Kbtbd2 (MGI:2384811) -chr7 32957426 33006927 7p12 7p14.3 616257 FKBP9, FKBP60, FKBP63 FK506-binding protein 9 FKBP9 11328 ENSG00000122642 Fkbp9 (MGI:1350921) -chr7 33014112 33062775 7p15-p14 7p14.3 606224 NT5C3A, NT5C3, UMPH1, PSN1 5' nucleotidase, cytosolic IIIA (uridine 5' monophosphate hydrolase 1) NT5C3A 51251 ENSG00000122643 pseudogenes on chr.4 and chr.7 Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3), Autosomal recessive Nt5c3 (MGI:1927186) -chr7 33094796 33109403 7p14.2 7p14.3 607331 RP9, PAP1 RP9 pre-mRNA splicing factor RP9 6100 ENSG00000164610 mutation identified in 1 patient ?Retinitis pigmentosa 9, 180104 (3), Autosomal dominant Rp9 (MGI:2157166) -chr7 33129243 33637237 7p14 7p14.3 607968 PTHB1, BBS9 Parathyroid hormone-responsive B1 gene BBS9 27241 ENSG00000122507 Bardet-Biedl syndrome 9, 615986 (3), Autosomal recessive Bbs9 (MGI:2442833) -chr7 33904914 34156426 7p14.3 7p14.3 608699 BMPER, CV2 BMP binding endothelial regulator BMPER 168667 ENSG00000164619 Diaphanospondylodysostosis, 608022 (3), Autosomal recessive Bmper (MGI:1920480) -chr7 34346511 34834330 7p15-p14 7p14.3 608596 NPSRAS1, AAA1 NPSR1 antisenase RNA 1 NPSR1-AS1 404744 ENSG00000197085 -chr7 34658217 34878331 7p15-p14 7p14.3 608595 NPSR1, GPR154, GPRA, VRR1, PGR14, ASRT2 Neuropeptide S receptor 1 NPSR1 387129 ENSG00000187258 {Asthma, susceptibility to, 2}, 608584 (3) Npsr1 (MGI:2441738) -chr7 34928880 35038040 7p14.3 7p14.2 613892 DPY19L1, KIAA0877 DPY19-like 1 DPY19L1 23333 ENSG00000173852 Dpy19l1 (MGI:1915685) -chr7 35199935 35254099 7p15-p14 7p14.2 606061 TBX20, ASD4 T-box 20 TBX20 57057 ENSG00000164532 Atrial septal defect 4, 611363 (3) Tbx20 (MGI:1888496) -chr7 35800985 35915762 7p14 7p14.2 603151 SEPT7, CDC10 Septin 7 SEPTIN7 989 ENSG00000122545 Septin7 (MGI:1335094) -chr7 36153251 36301537 7p14.2 7p14.2 617192 EEPD1, KIAA1706 Endonuclease/exonuclease/phosphatase family domain-containing protein 1 EEPD1 80820 ENSG00000122547 Eepd1 (MGI:1914734) -chr7 36389808 36453790 7p14.2 7p14.2 616027 ANLN, FSFS8 Actin-binding protein anillin ANLN 54443 ENSG00000011426 Focal segmental glomerulosclerosis 8, 616032 (3), Autosomal dominant Anln (MGI:1920174) -chr7 36509312 36724543 7p14-p12 7p14.2 102593 AOAH Acyloxyacyl hydrolase (neutrophil) AOAH 313 ENSG00000136250 Aoah (MGI:1350928) -chr7 36852905 37449325 7p14 7p14.2-p14.1 606420 ELMO1, CED12 Engulfment and cell motility gene 1 ELMO1 9844 ENSG00000155849 Elmo1 (MGI:2153044) -chr7 37100000 43300000 7p14 610655 HHT4 Telangiectasia, hereditary hemorrhagic, type 4 791087 between D7S2252 and D7S510 Telangiectasia, hereditary hemorrhagic, type 4, 610655 (2), Autosomal dominant -chr7 37100000 43300000 7p14.1 615455 TRGJ@ T-cell receptor gamma chain joining gene cluster -chr7 37100000 43300000 7p14.1 615454 TRGV@ T-cell receptor gamma chain variable gene cluster -chr7 37683559 37743834 7p14.1 7p14.1 609045 GPR141, PGR13 G protein -coupled receptor 141 GPR141 353345 ENSG00000187037 Gpr141 (MGI:2672983) -chr7 37848596 37900396 7p14.1 7p14.1 607421 NME8, TXNDC3, SPTRX2, CILD6 NME/NM23 family member 8 NME8 51314 ENSG00000086288 Ciliary dyskinesia, primary, 6, 610852 (3), Autosomal recessive Nme8 (MGI:1920662) -chr7 37905931 37916816 7p14.1 7p14.1 606570 SFRP4, FRPHE, PYL Secreted frizzled-related protein 4 SFRP4 6424 ENSG00000106483 Pyle disease, 265900 (3), Autosomal recessive Sfrp4 (MGI:892010) -chr7 38178244 38230670 7p14-p13 7p14.1 611759 STARD3NL, MENTHO STARD3 N-terminal like STARD3NL 83930 ENSG00000010270 Stard3nl (MGI:1923455) -chr7 38239576 38276740 7p15-p14 7p14.1 609642 TARP T-cell antigen receptor, gamma subunit, alternate reading frame protein 445347 -chr7 38240023 38249571 7p14.1 7p14.1 615450 TRGC2 T-cell receptor gamma chain constant region 2 TRGC2 6967 ENSG00000227191 Trgv3 (MGI:98633) -chr7 38260087 38265677 7p14.1 7p14.1 186970 TRGC1 T-cell receptor gamma chain constant region 1 TRGC1 6966 ENSG00000211689 Trgv3 (MGI:98633) -chr7 38383693 38631496 7p14-p13 7p14.1 600418 AMPH Amphiphysin AMPH 273 ENSG00000078053 Amph (MGI:103574) -chr7 38722973 38909199 7p14.1 7p14.1 605485 VPS41, SCAR29 VPS41 subunit of HOPS complex VPS41 27072 ENSG00000006715 Spinocerebellar ataxia, autosomal recessive 29, 619389 (3), Autosomal recessive Vps41 (MGI:1929215) -chr7 38977908 39468600 7p14-p13 7p14.1 609062 POU6F2, WTSL, WT5 POU domain, class 6, transcription factor 2 POU6F2 11281 ENSG00000106536 {Wilms tumor susceptibility-5}, 601583 (3), Somatic mutation, Autosomal dominant Pou6f2 (MGI:2443631) -chr7 39622954 39708123 7p22-p15 7p14.1 179550 RALA, HINCONS RAS-like protooncogene A RALA 5898 ENSG00000006451 Hiatt-Neu-Cooper neurodevelopmental syndrome, 619311 (3), Autosomal dominant Rala (MGI:1927243) -chr7 39949663 40099579 7p14.1 7p14.1 603309 CDK13, CDC2L5, CHED, CHDFIDD Cyclin-dependent kinase 13 CDK13 8621 ENSG00000065883 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3), Autosomal dominant Cdk13 (MGI:1916812) -chr7 40126026 40134621 7p14 7p14.1 609188 MPLKIP, C7orf11, ABHS, TTDN1, TTD4 M-phase specific PLK1 interacting protein MPLKIP 136647 ENSG00000168303 Trichothiodystrophy 4, nonphotosensitive, 234050 (3), Autosomal recessive Gm7102,Mplkip (MGI:1913558,MGI:3648735) -chr7 40134886 40860762 7p14 7p14.1 609187 C7orf10, GA3 Chromosome 7 open reading frame 10 SUGCT 79783 ENSG00000175600 Glutaric aciduria III, 231690 (3), Autosomal recessive Sugct (MGI:1923221) -chr7 41685100 41710531 7p15-p13 7p14.1 147290 INHBA Inhibin, beta-1 INHBA 3624 ENSG00000122641 Inhba (MGI:96570) -chr7 41960948 42237208 7p13 7p14.1 165240 GLI3, PAPA, PAPB GLI-Kruppel family member GLI3 (oncogene GLI3) GLI3 2737 ENSG00000106571 amplified in glioblastoma Greig cephalopolysyndactyly syndrome, 175700 (3), Autosomal dominant; Polydactyly, postaxial, types A1 and B, 174200 (3), Autosomal dominant; Pallister-Hall syndrome, 146510 (3), Autosomal dominant; Polydactyly, preaxial, type IV, 174700 (3), Autosomal dominant Gli3 (MGI:95729) -chr7 42916860 42932173 7p13 7p14.1 176842 PSMA2, PSC2, HC3 Proteasome (prosome, macropain) subunit, alpha type, 2 PSMA2 5683 ENSG00000106588 incorrectly assigned to 6q Psma2 (MGI:104885) -chr7 42932375 42937856 7p14 7p14.1 611839 MRPL32 Mitochondrial ribosomal protein L32 MRPL32 64983 ENSG00000106591 Mrpl32 (MGI:2137226) -chr7 43112579 43566000 7p13 7p14-p13 610384 HECW1, NEDL1, KIAA0322 HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 1 HECW1 23072 ENSG00000002746 Hecw1 (MGI:2444115) -chr7 43300000 132900000 7p13-q32 618905 SRS2 Silver-Russell syndrome maternal uniparental disomy of chromosome 7; 7p13-p11.2 and 7q32 have been implicated Silver-Russell syndrome 2, 618905 (4), Autosomal dominant -chr7 43508727 43522541 7p13 7p13 618172 LUARIS, lncRNA32 Long noncoding RNA upregulator of antiviral response interferon signaling LUARIS 100506895 ENSG00000231638 overlaps in antisense orientation with HECW1 gene -chr7 43583107 43627378 7p13 7p13 604726 STK17A, DRAK1 Serine/threonine protein kinase 17A STK17A 9263 ENSG00000164543 -chr7 43608451 43729532 7p13 7p13 614769 COA1, C7orf44 Cytochrome c oxidase assembly factor 1, S. cerevisiae, homolog of COA1 55744 ENSG00000106603 -chr7 43758121 43807341 7p13 7p13 109750 BLVRA Biliverdin reductase A BLVRA 644 ENSG00000106605 Hyperbiliverdinemia, 614156 (3), Autosomal dominant, Autosomal recessive Blvra (MGI:88170) -chr7 43866557 43869516 7p14 7p13 611986 MRPS24 Mitochondrial ribosomal protein S24 MRPS24 64951 ENSG00000062582 Mrps24 (MGI:1928142) -chr7 43875912 43926725 7p13 7p13 610337 URGCP, URG4 Upregulator of cell proliferation URGCP 55665 ENSG00000106608 Urgcp (MGI:1919296) -chr7 43997896 44011039 7p13 7p13 617623 SPDYE1, SPDYB2L2, RINGO1 SPEEDY/RINGO cell cycle regulator family, member E1 SPDYE1 285955 ENSG00000136206 Spdye4b,Spdye4a (MGI:3612701,MGI:1921923) -chr7 44044701 44069455 7p13 7p13 610106 DBNL, HIP55 Drebrin-like DBNL 28988 ENSG00000136279 Dbnl (MGI:700006) -chr7 44062726 44065566 7p13-p12.3 7p13 612931 PGAM2, PGAMM, GSD10 Phosphoglycerate mutase, muscle form PGAM2 5224 ENSG00000164708 Glycogen storage disease X, 261670 (3), Autosomal recessive Pgam2 (MGI:1933118) -chr7 44072061 44082529 7p13 7p13 606344 POLM Polymerase, DNA, mu POLM 27434 ENSG00000122678 Polm (MGI:1860191) -chr7 44104319 44114563 7p13 7p13 602981 AEBP1, ACLP AE-binding protein 1 AEBP1 165 ENSG00000106624 Ehlers-Danlos syndrome, classic-like, 2, 618000 (3), Autosomal recessive Aebp1 (MGI:1197012) -chr7 44114679 44123667 7p13 7p13 600815 POLD2 Polymerase (DNA directed), delta 2, regulatory subunit, 50kD POLD2 5425 ENSG00000106628 Pold2 (MGI:1097163) -chr7 44138863 44141391 7p13 7p13 613993 MYL7, MYL2A, MLC2A, MYLC2A Myosin, light chain 7, regulatory MYL7 58498 ENSG00000106631 Myl7 (MGI:107495) -chr7 44143212 44189438 7p15-p13 7p13 138079 GCK, HHF3, PNDM1 Glucokinase (hexokinase-4) GCK 2645 ENSG00000106633 proximal to TCRB MODY, type II, 125851 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal 1, 606176 (3), Autosomal recessive; Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3), Autosomal dominant; Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3), Autosomal dominant Gck (MGI:1270854) -chr7 44200977 44214293 7p13 7p13 606209 YKT6 Ykt6, S. cerevisiae, homolog of YKT6 10652 ENSG00000106636 Ykt6 (MGI:1927550) -chr7 44217153 44326166 7p14 7p13 607707 CAMK2B, MRD54 Calcium/calmodulin-dependent protein kinase II-beta CAMK2B 816 ENSG00000058404 Mental retardation, autosomal dominant 54, 617799 (3), Autosomal dominant Camk2b (MGI:88257) -chr7 44379118 44490874 7p13 7p13 610296 NUDCD3, KIAA1068, NUDCL NUDC domain-containing protein 3 NUDCD3 23386 ENSG00000015676 Nudcd3 (MGI:2144158) -chr7 44512439 44541650 7p13 7p13 608010 NPC1L1, LDLCQ7 NPC1-like intracellular cholesterol transporter 1 NPC1L1 29881 ENSG00000015520 [Ezetimibe, nonresponse to], 617966 (3); [Low density lipoprotein cholesterol level QTL 7], 617966 (3) Npc1l1 (MGI:2685089) -chr7 44565803 44573907 7p13 7p13 608023 DDX56, NOH61 DEAD-box helicase 56 DDX56 54606 ENSG00000136271 Ddx56 (MGI:1277172) -chr7 44577893 44582230 7p22.2 7p13 612038 TMED4 Transmembrane p24 trafficking protein 4 TMED4 222068 ENSG00000158604 Tmed4 (MGI:1915070) -chr7 44606571 44709065 7p14-p13 7p13 613022 OGDH Oxoglutarate dehydrogenase, lipoamide (alpha-ketoglutarate dehydrogenase) OGDH 4967 ENSG00000105953 Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1), Autosomal recessive Ogdh (MGI:1098267) -chr7 44748546 44769880 7p13 7p13 611196 ZMIZ2, KIAA1886, ZIMP7 Zinc finger MIZ-domain containing 2 ZMIZ2 83637 ENSG00000122515 Zmiz2 (MGI:106374) -chr7 44795959 44803116 7p13 7p13 123840 PPIA Peptidylprolyl isomerase A (cyclophilin A) PPIA 5478 ENSG00000196262 Ppia (MGI:97749) -chr7 44876298 44885529 7p13 7p13 608887 PURB Purine-rich element-binding protein B PURB 5814 ENSG00000146676 Purb (MGI:1338779) -chr7 44962661 44979104 7p13 7p13 600642 MYO1G, HA2, HLA-HA2 Myosin IG MYO1G 64005 ENSG00000136286 Myo1g (MGI:1927091) -chr7 44999745 45076469 7p13 7p13 607929 CCM2, C7orf22, MGC4067 CCM2 scaffold protein CCM2 83605 ENSG00000136280 Cerebral cavernous malformations-2, 603284 (3), Autosomal dominant Ccm2 (MGI:2384924) -chr7 45080431 45089451 7p13 7p13 619419 NACAD, KIAA0363 NAC-alpha domain-containing protein NACAD 23148 ENSG00000136274 Nacad (MGI:3603030) -chr7 45100099 45111696 7p13 7p13 611325 TBRG4, KIAA0948, CPR2 Transforming growth factor-beta regulator 4 TBRG4 9238 ENSG00000136270 Tbrg4 (MGI:1100868) -chr7 45104905 45105041 7p13 7p13 611335 SNORA5C Small nucleolar RNA, H/ACA box, 5C SNORA5C 677796 ENSG00000201772 in intron 3 of TBRG4 -chr7 45157777 45184249 7p13-p12 7p13 605155 RAMP3 Receptor activity-modifying protein 3 RAMP3 10268 ENSG00000122679 Ramp3 (MGI:1860292) -chr7 45574139 45723115 7p13-p12 7p12.3 103072 ADCY1, DFNB44 Adenylate cyclase-1, brain ADCY1 107 ENSG00000164742 mutation identified in 1 DFNB44 family ?Deafness, autosomal recessive 44, 610154 (3), Autosomal recessive Adcy1 (MGI:99677) -chr7 45723786 45769017 7p13 7p12.3 611563 SEPT13 Septin 13 SEPTIN7P2 641977 ENSG00000214765 -chr7 45888487 45893659 7p14-p12 7p12.3 146730 IGFBP1 Insulin-like growth factor-binding protein-1 IGFBP1 3484 ENSG00000146678 Igfbp1 (MGI:96436) -chr7 45912244 45921271 7p14-p12 7p12.3 146732 IGFBP3 Insulin-like growth factor-binding protein-3 IGFBP3 3486 ENSG00000146674 tail-to-tail 20kb from IGFBP1 Igfbp3 (MGI:96438) -chr7 47275153 47582552 7p12.3 7p12.3 606825 TNS3, TEM6 Tensin 3 TNS3 64759 ENSG00000136205 Tns3 (MGI:2443012) -chr7 47774602 47958912 7p13-p12 7p12.3 609721 PKD1L1, HTX8 Polycystin 1L1 PKD1L1 168507 ENSG00000158683 Heterotaxy, visceral, 8, autosomal, 617205 (3), Autosomal recessive Pkd1l1 (MGI:2156538) -chr7 47962979 47979618 7p13-p12 7p12.3 603760 HUS1 Hydroxyurea-sensitive 1, S. pombe, homolog of HUS1 3364 ENSG00000136273 Hus1 (MGI:1277962) -chr7 47987147 48035898 7p12.3 7p12.3 618984 SUN3, SUNC1 SAD1 and UNC84 domain-containing protein 3 SUN3 256979 ENSG00000164744 Sun3 (MGI:3041199) -chr7 48088307 48108735 7p12.3 7p12.3 191730 UPP1, UP Uridine phosphorylase 1 UPP1 7378 ENSG00000183696 Upp1 (MGI:1097668) -chr7 48171423 48647496 7p12.3 7p12.3 607807 ABCA13 ATP-binding cassette, subfamily A, member 13 ABCA13 154664 ENSG00000179869 Abca13 (MGI:2388707) -chr7 49000000 50500000 7p12.2 613067 ALL2 Leukemia, acute lymphoblastic, susceptibility to, 2 100310786 associated with rs11978267 {Leukemia, acute lymphoblastic, susceptibility to, 2}, 613067 (2) -chr7 49773637 49923776 7p12.2 7p12.2 611108 VWC2, BRORIN von Willebrand factor C domain-containing protein 2 VWC2 375567 ENSG00000188730 Vwc2 (MGI:2442987) -chr7 49846354 50093257 7p12.2 7p12.2 608498 ZPBP, SP38 Zona pellucida-binding protein ZPBP 11055 ENSG00000042813 Zpbp (MGI:1855701) -chr7 50303452 50405100 7p12 7p12.2 603023 IKZF1, ZNFN1A1, IK1, LYF1, CVID13 Ikaros family zinc finger 1 IKZF1 10320 ENSG00000185811 fused with BCL6 in DLBL Immunodeficiency, common variable, 13, 616873 (3), Autosomal dominant Ikzf1 (MGI:1342540) -chr7 50437319 50450399 7p12.1 7p12.2 615383 FIGNL1 Fidgetin-like protein 1 FIGNL1 63979 ENSG00000132436 Fignl1 (MGI:1890648) -chr7 50458435 50565459 7p11 7p12.2-p12.1 107930 DDC DOPA decarboxylase (aromatic L-amino acid decarboxylase) DDC 1644 ENSG00000132437 Aromatic L-amino acid decarboxylase deficiency, 608643 (3), Autosomal recessive Ddc (MGI:94876) -chr7 50500000 98400000 7p12.1-q21 614676 CMH21 Cardiomyopathy, familial hypertrophic, 21 100909387 max lod at D7S669 Cardiomyopathy, hypertrophic, 21, 614676 (2), Autosomal dominant -chr7 50500000 60100000 7p12-cen 147830 TTIM1 T-cell tumor invasion and metastasis-1 (invasion-metastasis of neoplasms, chromosome 7 determined) -chr7 50590067 50793452 7p12-p11.2 7p12.1 601523 GRB10, RSS Growth factor receptor-bound protein-10 GRB10 2887 ENSG00000106070 Grb10 (MGI:103232) -chr7 51016211 51316808 7p12 7p12.1 610317 COBL, KIAA0633 Cordon-bleu, mouse, homolog of COBL 23242 ENSG00000106078 Cobl (MGI:105056) -chr7 53900000 58100000 7p11.2 608345 NYS3 Nystagmus 3, congenital, autosomal dominant 4934 translocation t(7;15)(p11.2;q11.2) Nystagmus 3, congenital, autosomal dominant, 608345 (2), Autosomal dominant -chr7 54752252 54759210 7p11.2 7p11.2 609215 SEC61G SEC61 translocon, gamma subunit SEC61G 23480 ENSG00000132432 Sec61g,Gm10177 (MGI:3704330,MGI:1202066) -chr7 55019016 55211627 7p12.3-p12.1 7p11.2 131550 EGFR, NISBD2 Epidermal growth factor receptor EGFR 1956 ENSG00000146648 same as oncogene ERBB; mutation identified in 1 NISBD2 family ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3), Autosomal recessive; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3), Somatic mutation, Autosomal dominant; Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3), Somatic mutation, Autosomal dominant; {Nonsmall cell lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant Egfr (MGI:95294) -chr7 55238435 55255634 7p11.2 7p11.2 618217 ELDR, LINC01156, FABL EGFR long noncoding downstream RNA ELDR 102725541 Eldr (MGI:1919985) -chr7 55365336 55433736 7p11.2 7p11.2 612919 LANCL2, TASP LanC-like 2 LANCL2 55915 ENSG00000132434 Lancl2 (MGI:1919085) -chr7 55434405 55572501 7p11.2 7p11.2 611915 VOPP1, ECOP, GASP Vesicular, overexpressed in cancer, prosurvival protein 1 VOPP1 81552 ENSG00000154978 Vopp1 (MGI:2141658) -chr7 55764796 55773682 7q11.2 7p11.2 604239 PSPHP1, PSPHL, CO9 Phosphoserine phosphatase pseudogene 1 PSPHP1 8781 -chr7 55793539 55862751 7p11.2 7p11.2 612140 SEPT14 Septin 14 SEPTIN14 346288 ENSG00000154997 Septin14 (MGI:1921472) -chr7 55887455 55942224 7p11.2 7p11.2 616181 ZNF713 Zinc finger protein 713 ZNF713 349075 ENSG00000178665 -chr7 55951876 55956499 7p11-q11.21 7p11.2 611980 MRPS17 Mitochondrial ribosomal protein S17 MRPS17 51373 ENSG00000239789 9 pseudogenes Mrps17 (MGI:1913508) -chr7 55964584 56000178 7p11.2 7p11.2 603004 NIPSNAP2, GBAS Nipsnap homolog 2 NIPSNAP2 2631 ENSG00000146729 Nipsnap2 (MGI:1278343) -chr7 56010486 56051603 7p11.2 7p11.2 172480 PSPH, PSP, PSPHD Phosphoserine phosphatase PSPH 5723 ENSG00000146733 Phosphoserine phosphatase deficiency, 614023 (3), Autosomal recessive Psph (MGI:97788) -chr7 56051764 56063988 7p11.2 7p11.2 104613 CCT6A, CCT6, HTR3, TCP20 Chaperonin containing T-complex polypeptide 1, subunit 6A CCT6A 908 ENSG00000146731 Cct6a (MGI:107943) -chr7 56064006 56080669 7p11.2 7p11.2 607940 SUMF2 Sulfatase-modifying factor 2 SUMF2 25870 ENSG00000129103 Sumf2 (MGI:1915152) -chr7 56079926 56093449 7p12-q21 7p11.2 172470 PHKG1 Phosphorylase kinase, gamma 1, muscle PHKG1 5260 ENSG00000164776 presumed pseudogene on 11 Phkg1 (MGI:97579) -chr7 56101572 56106475 7p11.2 7p11.2 616244 CHCHD2, PARK22 Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 CHCHD2 51142 ENSG00000106153 Parkinson disease 22, autosomal dominant, 616710 (3), Autosomal dominant Chchd2 (MGI:1261428) -chr7 57117675 57139898 7p11.2 7p11.2 617444 ZNF479, KR19 Zinc finger protein 479 ZNF479 90827 ENSG00000185177 -chr7 58100000 98400000 7p11-q21 608658 HPC4 Prostate cancer, hereditary, 4 408260 {Prostate cancer, susceptibility to, 4}, 608658 (2) -chr7 60100000 159345973 7q 145290 HRX Hyperreflexia 7974 linked to KEL -chr7 64665009 64711581 7q11.2 7q11.21 603989 ZNF107 Zinc finger protein-107 ZNF107 51427 ENSG00000196247 Zfp748,Zfp729a,Zfp458,Zfp457,Zfp595,Zfp738 (MGI:3040706,MGI:3040691,MGI:3040707,MGI:2664334,MGI:3036250,MGI:1916455) -chr7 64794427 64860822 7q11.21-q11.23 7q11.21 604080 ZNF138 Zinc finger protein-138 ZNF138 7697 ENSG00000197008 -chr7 64877602 64932238 7q11.21 7q11.21 604756 ZNF273, HZF9 Zinc finger protein 273 ZNF273 10793 ENSG00000198039 -chr7 64971775 64991035 7q11.2 7q11.21 194624 ZNF117 Zinc finger protein-117 ZNF117 51351 ENSG00000152926 -chr7 64990355 65006686 7q11.2 7q11.21 131170 ERV3 Endogenous retroviral sequence-3 (includes zinc finger protein H-plk) ERV3-1 2086 ENSG00000213462 -chr7 65373854 65401135 7q11.21 7q11.21 603974 ZNF92 Zinc finger protein-92 ZNF92 168374 ENSG00000146757 sequence aligns with sequence on 19p13.1-p12 -chr7 65865771 65959557 7q11.21 7q11.21 608838 VKORC1L1 Vitamin K epoxide reductase complex, subunit 1-like 1 VKORC1L1 154807 ENSG00000196715 Vkorc1l1 (MGI:1916818) -chr7 65960683 65982229 7q21.11 7q11.21 611499 GUSB, MPS7 Glucuronidase, beta- GUSB 2990 ENSG00000169919 Mucopolysaccharidosis VII, 253220 (3), Autosomal recessive Gusb (MGI:95872) -chr7 66075818 66093575 7cen-q11.2 7q11.21 608310 ASL Argininosuccinate lyase ASL 435 ENSG00000126522 Argininosuccinic aciduria, 207900 (3), Autosomal recessive Asl (MGI:88084) -chr7 66114817 66154567 7q11.21 7q11.21 606121 CRCP, CGRPRCP, RCP CGRP receptor component CRCP 27297 ENSG00000241258 Crcp (MGI:1100818) -chr7 66205313 66360442 7q11.21 7q11.21 603125 TPST1 Tyrosylprotein sulfotransferase 1 TPST1 8460 ENSG00000169902 Tpst1 (MGI:1298231) -chr7 66628880 66643228 7q11.21 7q11.21 611725 KCTD7, EPM3, CLN14 Potassium channel tetramerization domain containing 7 KCTD7 154881 ENSG00000243335 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3), Autosomal recessive Kctd7 (MGI:2442265) -chr7 66654566 66811463 7q11.21 7q11.21 609700 RABGEF1, RABEX5 RAB guanine nucleotide exchange factor 1 RABGEF1 27342 ENSG00000154710 Rabgef1 (MGI:1929459) -chr7 66987679 66995585 7q11 7q11.21 607444 SBDS, SDS SBDS ribosome maturation factor SBDS 51119 ENSG00000126524 {Aplastic anemia, susceptibility to}, 609135 (3); Shwachman-Diamond syndrome, 260400 (3), Autosomal recessive Sbds (MGI:1913961) -chr7 66996829 67239514 7q11.21 7q11.21 611243 TYW1 tRNA-wybutosine-synthesizing protein 1, S. cerevisiae, homolog of TYW1 55253 ENSG00000198874 Tyw1 (MGI:2141161) -chr7 69598474 70793505 7q11.2 7q11.22 607270 KIAA0442, MRD26, AUTS2 KIAA0442 gene AUTS2 26053 ENSG00000158321 translocation break at 7q11.2 Mental retardation, autosomal dominant 26, 615834 (3), Autosomal dominant Auts2 (MGI:1919847) -chr7 71132143 71713598 7q11.22 7q11.22 615137 GALNACT17, GALNTL3, WBSCR17 Polypeptide N-acetylgalactosaminyltransferase 17 GALNT17 64409 ENSG00000185274 Galnt17 (MGI:2137594) -chr7 71779490 72504270 7q11.22 7q11.22 607176 CALN1 Calneuron 1 CALN1 83698 ENSG00000183166 Caln1 (MGI:2155987) -chr7 72700000 77900000 7q11.2 105800 ANIB1 Aneurysm, intracranial berry, 1 116833 in or near ELN Aneurysm, intracranial berry, 1, 105800 (2), Autosomal dominant -chr7 72700000 77900000 7q11.23 613729 DEL7q11.23, C7DELq11.23 Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb contiguous gene deletion syndrome Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb, 613729 (4) -chr7 72700000 77900000 7q11.23 609757 DUP7q11.23, C7DUPq11.23 Chromosome 7q11.23 duplication syndrome Chromosome 7q11.23 duplication syndrome, 609757 (4), Autosomal dominant -chr7 72700000 98400000 7q11.2-q21.3 129900 EEC1 Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1 1913 ?EEC syndrome-1, 129900 (2), Autosomal dominant -chr7 72700000 77900000 7q11.2 610247 EOE1, EE Esophagitis, eosinophilic, 1 100302511 associated with rs2302009 {Esophagitis, eosinophilic, 1}, 610247 (2), Multifactorial -chr7 72700000 77900000 7q11.23 194050 WBS, WMS, WS, DEL7q11, C7DELq11 Williams-Beuren syndrome (chromosome 7q11.23 deletion syndrome) contiguous gene syndrome Williams-Beuren syndrome, 194050 (4), Autosomal dominant -chr7 72879356 72951458 7q11.23 7q11.23 615753 POM121, POM121A, KIAA0618 POM121 transmembrane nucleoporin POM121 9883 ENSG00000196313 Pom121 (MGI:2137624) -chr7 72954844 73005931 7q11.23 7q11.23 612550 TRIM74, TRIM50C Tripartite motif-containing protein 74 TRIM74 378108 ENSG00000155428 Trim50 (MGI:2664992) -chr7 73302515 73308825 7q11.23 7q11.23 615732 NSUN5, WBSCR20, WBSCR20A NOP2/SUN RNA methyltransferase family, member 5 NSUN5 55695 ENSG00000130305 Nsun5 (MGI:2140844) -chr7 73312535 73328081 7q11.23 7q11.23 612548 TRIM50, TRIM50A Tripartite motif-containing protein 50 TRIM50 135892 ENSG00000146755 Trim50 (MGI:2664992) -chr7 73328153 73358624 7q11.23 7q11.23 604839 FKBP6 FK506-binding protein 6 FKBP6 8468 ENSG00000077800 Fkbp6 (MGI:2137612) -chr7 73433777 73436119 7q11.23 7q11.23 601766 FZD9, FZD3 Frizzled class receptor 9 FZD9 8326 ENSG00000188763 Fzd9 (MGI:1313278) -chr7 73440405 73522292 7q11-q21 7q11.23 605681 BAZ1B, WSTF, WBSCR9 Bromodomain adjacent to zinc finger domain, 1B BAZ1B 9031 ENSG00000009954 Baz1b (MGI:1353499) -chr7 73536355 73557689 7q11.23 7q11.23 605846 BCL7B B-cell CLL/lymphoma 7B BCL7B 9275 ENSG00000106635 Bcl7b (MGI:1332238) -chr7 73567536 73578604 7q11.23 7q11.23 605842 TBL2 Transducin-beta-like 2 TBL2 26608 ENSG00000106638 Tbl2 (MGI:1351652) -chr7 73593200 73624521 7q11.23 7q11.23 605678 MLXIPL, WBSCR14, MONDOB, CHREBP MLX interacting protein-like MLXIPL 51085 ENSG00000009950 Mlxipl (MGI:1927999) -chr7 73665345 73672109 7q11.23 7q11.23 610039 VPS37D, WBSCR24 VPS37D subunit of ESCRT-I VPS37D 155382 ENSG00000176428 Vps37d (MGI:2159402) -chr7 73680917 73683452 7q11.23 7q11.23 618202 DNAJC30, WBSCR18, LHONAR, MC1DN38 DNAJ/HSP40 homolog, subfamily C, member 30 DNAJC30 84277 ENSG00000176410 Leber hereditary optic neuropathy, autosomal recessive, 619382 (3), Autosomal recessive Dnajc30 (MGI:1913364) -chr7 73683570 73698211 7q11.23 7q11.23 615733 BUD23, WBSCR22, MERM1 rRNA methyltransferase and ribosome maturation factor Bud23 BUD23 114049 ENSG00000071462 Bud23 (MGI:1913388) -chr7 73699209 73719672 7q11.2 7q11.23 186590 STX1A, STX1 Syntaxin 1A, brain STX1A 6804 ENSG00000106089 Stx1a (MGI:109355) -chr7 73735068 73735999 7q11.23 7q11.23 612545 WBSCR26 Williams-Beuren syndrome chromosome region 26 ABHD11-AS1 171022 -chr7 73768996 73770269 7q11 7q11.23 602910 CLDN3, CPETR2 Claudin-3 (Clostridium perfringens enterotoxin receptor 2) CLDN3 1365 ENSG00000165215 Cldn3 (MGI:1329044) -chr7 73830995 73832689 7q11.23 7q11.23 602909 CLDN4, CPETR1, CPER Claudin 4 CLDN4 1364 ENSG00000189143 Cldn13,Cldn4 (MGI:1913102,MGI:1313314) -chr7 73834589 73842526 7q11.23 7q11.23 612546 WBSCR27 Williams-Beuren syndrome chromosome region 27 METTL27 155368 ENSG00000165171 Mettl27 (MGI:1933146) -chr7 73860847 73865891 7q11.23 7q11.23 612547 WBSCR28 Williams-Beuren syndrome chromosome region 28 TMEM270 135886 ENSG00000175877 Tmem270 (MGI:1923879) -chr7 74027771 74069906 7q11.2 7q11.23 130160 ELN, SVAS, ADCL1 Elastin ELN 2006 ENSG00000049540 Cutis laxa, autosomal dominant, 123700 (3), Autosomal dominant; Supravalvar aortic stenosis, 185500 (3), Autosomal dominant Eln (MGI:95317) -chr7 74083803 74122524 7q11.23 7q11.23 601329 LIMK1 LIM domain kinase 1 LIMK1 3984 ENSG00000106683 Limk1 (MGI:104572) -chr7 74174355 74197095 7q11.23 7q11.23 603431 EIF4H, WBSCR1, WSCR1 Eukaryotic translation initiation factor 4H EIF4H 7458 ENSG00000106682 Eif4h (MGI:1341822) -chr7 74191197 74191293 7q11.23 7q11.23 615070 MIR590 Micro RNA 590 MIR590 693175 ENSG00000207741 Mir590 (MGI:3718552) -chr7 74210005 74229833 7q11.23 7q11.23 605719 LAT2, WBSCR5, LAB, NTAL Linker for activation of T cells family, member 2 LAT2 7462 ENSG00000086730 Lat2 (MGI:1926479) -chr7 74231501 74254451 7q11.23 7q11.23 600404 RFC2 Replication factor C2, 40kD (activator 1, 40kD) RFC2 5982 ENSG00000049541 Rfc2 (MGI:1341868) -chr7 74289406 74405942 7q11.23 7q11.23 603432 CLIP2, CYLN2, WBSCR4, WSCR4 CAP-GLY domain-containing linker protein 2 CLIP2 7461 ENSG00000106665 ?neurodevelopmental defect of Williams syndrome Clip2 (MGI:1313136) -chr7 74453905 74603069 7q11.23 7q11.23 604318 GTF2IRD1, GTF3, MUSTRD1, WBS GTF21 repeat domain-containing protein 1 GTF2IRD1 9569 ENSG00000006704 Gtf2ird1 (MGI:1861942) -chr7 74657717 74760691 7q11.23 7q11.23 601679 GTF2I, BAP135, WBS General transcription factor II-I (BTK-associated protein, 135kD) GTF2I 2969 ENSG00000263001 Gtf2i (MGI:1202722) -chr7 74774010 74789314 7q11.23 7q11.23 608512 NCF1, CGD1 Neutrophil cytosolic factor-1, 47kD NCF1 653361 ENSG00000158517 Chronic granulomatous disease 1, autosomal recessive, 233700 (3), Autosomal recessive Ncf1 (MGI:97283) -chr7 74964692 75031530 7q11.23 7q11.23 617033 CASTOR2, GATSL2 Cytosolic arginine sensor for mTORC1 subunit 2 CASTOR2 729438 ENSG00000274070 Castor2 (MGI:1933384) -chr7 75395628 75405604 7q11.23 7q11.23 612549 TRIM73, TRIM50B Tripartite motif-containing protein 73 TRIM73 375593 ENSG00000178809 Trim50 (MGI:2664992) -chr7 75416785 75486298 7q11.23 7q11.23 615754 POM121C, POM121-2 POM121 Transmembrane nucleoporin C POM121C 100101267 ENSG00000272391 Pom121 (MGI:2137624) -chr7 75533297 75738975 7q11.23 7q11.23 601767 HIP1 Huntingtin interacting protein-1 HIP1 3092 ENSG00000127946 Hip1 (MGI:1099804) -chr7 75769523 75791596 7q11.2 7q11.23 604697 CCL26, SCYA26 Chemokine, C-C motif, ligand 26 CCL26 10344 ENSG00000006606 Ccl26 (MGI:3589281) -chr7 75810824 75823371 7q11.23 7q11.23 602495 CCL24, SCYA24, MPIF2 Chemokine, C-C motif, ligand 24 CCL24 6369 ENSG00000106178 Ccl24 (MGI:1928953) -chr7 75879014 75888925 7q11.23 7q11.23 615203 RHBDD2 Rhomboid domain-containing protein 2 RHBDD2 57414 ENSG00000005486 Rhbdd2 (MGI:1915612) -chr7 75915154 75986854 7q11.2 7q11.23 124015 POR Cytochrome P450 oxidoreductase POR 5447 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3), Autosomal recessive; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3) Por (MGI:97744) -chr7 75986830 75994668 7q11.23 7q11.23 616550 TMEM120A, TMPIT, NET29 Transmembrane protein 120A TMEM120A 83862 ENSG00000189077 Tmem120a (MGI:2686991) -chr7 75995819 76049343 7q11.23 7q11.23 616695 STYXL1, MKSTYX, DUSP24 Serine/threonine/tyrosine-interacting protein-like 1 STYXL1 51657 ENSG00000127952 Styxl1 (MGI:1923821) -chr7 76048105 76067507 7q11.23 7q11.23 154100 MDH2, DEE51 Malate dehydrogenase, mitochondrial MDH2 4191 ENSG00000146701 Developmental and epileptic encephalopathy 51, 617339 (3), Autosomal recessive Mdh2 (MGI:97050) -chr7 76302672 76304291 7q11.23 7q11.23 602195 HSPB1, HSP27, CMT2F, HMN2B Heat-shock 27kD protein-1 HSPB1 3315 ENSG00000106211 Neuronopathy, distal hereditary motor, type IIB, 608634 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3), Autosomal dominant Hspb1 (MGI:96240) -chr7 76326798 76358990 7q11.23 7q11.23 605356 YWHAG, DEE56 Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma isoform YWHAG 7532 ENSG00000170027 Developmental and epileptic encephalopathy 56, 617665 (3), Autosomal dominant Ywhag (MGI:108109) -chr7 76389336 76410024 7q11.23 7q11.23 607639 SSC4D, SRCRB4D Scavenger receptor cysteine-rich family member with 4 domains SSC4D 136853 ENSG00000146700 Ssc4d (MGI:1924709) -chr7 76397521 76442068 7q11.23 7q11.23 182889 ZP3, ZP3A, ZP3B, OOMD3 Zona pellucida glycoprotein-3 (sperm receptor) ZP3 7784 ENSG00000188372 Oocyte maturation defect 3, 617712 (3), Autosomal dominant Zp3 (MGI:99215) -chr7 76461675 76505994 7q11.23 7q11.23 613141 DTX2, KIAA1528 Deltex E3 ubiquitin ligase 2 DTX2 113878 ENSG00000091073 Dtx2 (MGI:1921448) -chr7 76510551 76516521 7q11.23 7q11.23 611887 UPK3B, UPIIIB, P35 Uroplakin 3B UPK3B 105375355 ENSG00000243566 Upk3b (MGI:2140882) -chr7 76609985 76627278 7q11.2 7q11.23 600587 POMZP3 POM121/ZP3 fusion protein POMZP3 22932 ENSG00000146707 Zp3 (MGI:99215) -chr7 77193368 77199818 7q11.2 7q11.23 605351 FGL2 Fibrinogen-like 2 FGL2 10875 ENSG00000127951 Fgl2 (MGI:103266) -chr7 77310750 77416418 7q11.23 7q11.23 613552 GSAP, PION Gamma-secretase-activating protein GSAP 54103 ENSG00000186088 Gsap (MGI:2442259) -chr7 77537189 77640068 7q11.23 7q11.23 600079 PTPN12, PTPG1 Protein tyrosine phosphatase, nonreceptor-type, 12 PTPN12 5782 ENSG00000127947 Colon cancer, somatic, 114500 (3) Ptpn12 (MGI:104673) -chr7 77657659 77697344 7q21 7q11.23 616048 APTR Alu-mediated CDKN1A/p21 transcriptional regulator, noncoding APTR 100505854 ENSG00000214293 -chr7 77798772 77957503 7q11.23-q21 7q11.23-q21.11 616785 PHTF2 Putative homeodomain transcription factor 2 PHTF2 57157 ENSG00000006576 Phtf2 (MGI:1916020) -chr7 78017054 79453666 7q21 7q21.11 606382 MAGI2, AIP1, KIAA0705, NPHS15 Membrane-associated guanylate kinase, WW and PDZ domains-containing, 2 MAGI2 9863 ENSG00000187391 Nephrotic syndrome, type 15, 617609 (3), Autosomal recessive Magi2 (MGI:1354953) -chr7 80134830 80226180 7q21 7q21.11 139310 GNAI1 Guanine nucleotide-binding protein (G protein), alpha-inhibiting activity polypeptide-1 GNAI1 2770 ENSG00000127955 Gnai1 (MGI:95771) -chr7 80458634 80512063 7q21.11 7q21.11 139395 GNAT3, GDCA Guanine nucleotide-binding protein, alpha-transducing activity polypeptide 3 GNAT3 346562 ENSG00000214415 Gnat3 (MGI:3588268) -chr7 80602206 80679276 7q21.11 7q21.11 173510 CD36, CHDS7, BDPLT10 CD36 antigen (collagen type I) CD36 948 ENSG00000135218 Platelet glycoprotein IV deficiency, 608404 (3), Autosomal recessive; {Coronary heart disease, susceptibility to, 7}, 610938 (3); {Malaria, cerebral, susceptibility to}, 611162 (3); {Malaria, cerebral, reduced risk of}, 611162 (3) Cd36 (MGI:107899) -chr7 80742537 80922388 7q21.11 7q21.11 602645 SEMA3C Semaphorin 3C SEMA3C 10512 ENSG00000075223 Sema3c (MGI:107557) -chr7 81699005 81770437 7q21.1 7q21.11 142409 HGF, DFNB39 Hepatic growth factor HGF 3082 ENSG00000019991 Deafness, autosomal recessive 39, 608265 (3), Autosomal recessive Hgf (MGI:96079) -chr7 81946443 82443955 7q21-q22 7q21.11 114204 CACNA2, CACNL2A Calcium channel, voltage-dependent, L type, alpha 2/delta subunit CACNA2D1 781 ENSG00000153956 Cacna2d1 (MGI:88295) -chr7 82754011 83164160 7q11.23-q21.1 7q21.11 604918 PCLO, PCH3 Piccolo, mouse, homolog of PCLO 27445 ENSG00000186472 mutation identified in 1 PCHD3 family ?Pontocerebellar hypoplasia, type 3, 608027 (3), Autosomal recessive Pclo (MGI:1349390) -chr7 83363237 83649138 7q21.11 7q21.11 608166 SEMA3E, SEMAH, KIAA0331 Semaphorin 3E SEMA3E 9723 ENSG00000170381 mutation identified in 1 CHARGE patient ?CHARGE syndrome, 214800 (3), Autosomal dominant Sema3e (MGI:1340034) -chr7 83955776 84515188 7q21.11 7q21.11 603961 SEMA3A, SEMAD, COLL1, HH16 Semaphorin 3A SEMA3A 10371 ENSG00000075213 {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3), Autosomal dominant Sema3a (MGI:107558) -chr7 84995191 85250242 7q21.11 7q21.11 609907 SEMA3D Semaphorin 3D SEMA3D 223117 ENSG00000153993 Sema3d (MGI:1860118) -chr7 86643908 86864878 7q21.1-q21.2 7q21.11-q21.12 601115 GRM3 Glutamate receptor, metabotropic-3 GRM3 2913 ENSG00000198822 Grm3 (MGI:1351340) -chr7 86876905 87059713 7q21.12 7q21.12 614048 ELAPOR2, KIAA1324L, EIG121L Endosome-lysosome-associated apoptosis and autophagy regulator 2 ELAPOR2 222223 ENSG00000164659 Elapor2 (MGI:2443264) -chr7 87152420 87196324 7q21.12 7q21.12 608491 DMTF1, DMP1 Cyclin D-binding MYB-like transcription factor 1 DMTF1 9988 ENSG00000135164 Dmtf1,Dmtf1l (MGI:1344415,MGI:3045322) -chr7 87196159 87220586 7q21.12 7q21.12 616993 TMEM243, C7orf23, MMTRAG Transmembrane protein 243 TMEM243 79161 ENSG00000135185 Tmem243 (MGI:3606159) -chr7 87325346 87345491 7q21.12 7q21.12 616403 TP53TG1 TP53 target gene 1 TP53TG1 11257 -chr7 87345645 87399793 7q21.1 7q21.12 606090 CROT, COT Carnitine octanoyltransferase CROT 54677 ENSG00000005469 Crot (MGI:1921364) -chr7 87398987 87476721 7q21.1 7q21.12 171060 ABCB4, PGY3, MDR3, ICP3 ATP-binding cassette, subfamily B, member 4 (P-glycoprotein-3/multiple drug resistance-3) ABCB4 5244 ENSG00000005471 within 500kb of MDR1 Gallbladder disease 1, 600803 (3), Autosomal dominant, Autosomal recessive; Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3), Autosomal dominant, Autosomal recessive; Cholestasis, progressive familial intrahepatic 3, 602347 (3), Autosomal recessive Abcb4 (MGI:97569) -chr7 87503016 87713294 7q21.1 7q21.12 171050 ABCB1, PGY1, MDR1, IBD13, CLCs ATP-binding cassette, subfamily B, member 1 (P-glycoprotein-1/multiple drug resistance-1) ABCB1 5243 ENSG00000085563 {Inflammatory bowel disease 13}, 612244 (3); {Colchicine resistance}, 120080 (3) Abcb1a,Abcb1b (MGI:97570,MGI:97568) -chr7 87627655 87832295 7q21.12 7q21.12 617295 RUNDC3B, RPIP9 RUN domain-containing protein 3B RUNDC3B 154661 ENSG00000105784 Rundc3b (MGI:2685286) -chr7 87833567 87876359 7q21.12 7q21.12 610821 SLC25A40 Solute carrier family 25, member 40 SLC25A40 55972 ENSG00000075303 Slc25a40 (MGI:2442486) -chr7 87876492 87909552 7q21.3 7q21.12 604281 DBF4, ASK DBF4 zinc finger DBF4 10926 ENSG00000006634 Dbf4 (MGI:1351328) -chr7 87934162 88202888 7q21 7q21.12 603709 ADAM22, DEE61 ADAM metallopeptidase domain 22 ADAM22 53616 ENSG00000008277 Developmental and epileptic encephalopathy 61, 617933 (3), Autosomal recessive Adam22 (MGI:1340046) -chr7 88205114 88226975 7q21.1 7q21.12 182520 SRI, SCN Sorcin (class 4 gene) SRI 6717 ENSG00000075142 Sri (MGI:98419) -chr7 88270891 88306893 7q21 7q21.12 611098 STEAP4, STAMP2, TIARP STEAP4 metalloreductase STEAP4 79689 ENSG00000127954 Steap4 (MGI:1923560) -chr7 90154468 90164826 7q21 7q21.13 604415 STEAP1 STEAP family member 1 STEAP1 26872 ENSG00000164647 Steap1 (MGI:1917608) -chr7 90211739 90243407 7q21 7q21.13 605094 STEAP2, STAMP1, IPCA1, PCANAP1 STEAP2 metalloreductase STEAP2 261729 ENSG00000157214 Steap2 (MGI:1921301) -chr7 90245173 90320963 7q21.13 7q21.13 617949 CFAP69, C7orf63, SPGF24 Cilia- and flagella-associated protein 69 CFAP69 79846 ENSG00000105792 Spermatogenic failure 24, 617959 (3), Autosomal recessive Cfap69 (MGI:2443778) -chr7 90346715 90391452 7q21.13 7q21.13 610920 GTPBP10, OBGH2 GTP-binding protein 10 GTPBP10 85865 ENSG00000105793 Gtpbp10 (MGI:2385599) -chr7 90403460 90415953 7q21 7q21.13 611232 CLKDN12 Claudin 12 CLDN12 9069 ENSG00000157224 Cldn12 (MGI:1929288) -chr7 90596320 91210589 7q21.13 7q21.13 610679 CDK14, PFTK1, PFTAIRE1, KIAA0834 Cyclin-dependent kinase 14 CDK14 5218 ENSG00000058091 Cdk14 (MGI:894318) -chr7 91264432 91271325 7q21 7q21.13 603408 FZD1 Frizzled class receptor 1 FZD1 8321 ENSG00000157240 Fzd1 (MGI:1196625) -chr7 91870928 91880732 7q21.2 7q21.2 602318 MTERF Transcription termination factor, mitochondrial MTERF1 7978 ENSG00000127989 Mterf1a,Mterf1b,Mthfs (MGI:1918240,MGI:3704243,MGI:1340032) -chr7 91940861 92110672 7q21-q22 7q21.2 604001 AKAP9, YOTIAO, AKAP450, LQT11 A-kinase anchor protein 9 AKAP9 10142 ENSG00000127914 mutation identified in 1 LQT11 family ?Long QT syndrome 11, 611820 (3), Autosomal dominant Akap9 (MGI:2178217) -chr7 92112152 92134802 7q21.2-q21.3 7q21.2 601637 CYP51A1, CYP51 Cytochrome P450, family 51, subfamily A, polypeptide 1 (lanosterol 14-alpha-demethylase) CYP51A1 1595 ENSG00000001630 Cyp51 (MGI:106040) -chr7 92198968 92246099 7q11.2-q21 7q21.2 604214 KRIT1, CCM1, CAM KREV interaction trapped 1 KRIT1 889 ENSG00000001631 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3), Autosomal dominant; Cerebral cavernous malformations-1, 116860 (3), Autosomal dominant; Cavernous malformations of CNS and retina, 116860 (3), Autosomal dominant Krit1 (MGI:1930618) -chr7 92447447 92494630 7q21.2 7q21.2 614518 GATAD1, ODAG, CMD2B GATA zinc finger domain-containing protein 1 GATAD1 57798 ENSG00000157259 mutation identified in 1 GATAD1 family ?Cardiomyopathy, dilated, 2B, 614672 (3), Autosomal recessive Gatad1 (MGI:1914460) -chr7 92468379 92477945 7q21-q22 7q21.2 604659 ERVW1, ERVWE1, HERVW Endogenous retroviral family W, member 1 (syncytin) ERVW-1 30816 ENSG00000242950 Synb,Syna (MGI:2684898,MGI:3045308) -chr7 92487022 92528519 7q21-q22 7q21.2 602136 PEX1, ZWS1, PBD1A, PBD1B, HMLR1 Peroxisome biogenesis factor-1 PEX1 5189 ENSG00000127980 Heimler syndrome 1, 234580 (3), Autosomal recessive; Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3), Autosomal recessive; Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3), Autosomal recessive Pex1 (MGI:1918632) -chr7 92604920 92836572 7q21-q22 7q21.2 603368 CDK6, PLSTIRE, MCPH12 Cyclin-dependent kinase 6 CDK6 1021 ENSG00000105810 mutation identified in 1 MCPH12 family ?Microcephaly 12, primary, autosomal recessive, 616080 (3), Autosomal recessive Cdk6 (MGI:1277162) -chr7 93099517 93117978 7q21 7q21.2 610456 SAMD9, NFTC, MIRAGE, M7MLS2 Sterile alpha motif domain-containing protein 9 SAMD9 54809 ENSG00000205413 Tumoral calcinosis, familial, normophosphatemic, 610455 (3), Autosomal recessive; Monosomy 7 myelodysplasia and leukemia syndrome 2, 619041 (3), Autosomal dominant; MIRAGE syndrome, 617053 (3), Autosomal dominant -chr7 93130055 93148384 7q21.2 7q21.2 611170 SAMD9L, ATXPC, M7MLS1 Sterile alpha motif domain-containing 9-like SAMD9L 219285 ENSG00000177409 Ataxia-pancytopenia syndrome, 159550 (3), Autosomal dominant; Monosomy 7 myelodysplasia and leukemia syndrome 1, 252270 (3), Autosomal dominant Samd9l (MGI:1343184) -chr7 93188533 93232292 7q21.2-q21.3 7q21.2 614133 HEPACAM2, MIKI Hepacam family member 2 HEPACAM2 253012 ENSG00000188175 Hepacam2 (MGI:2141520) -chr7 93232365 93361122 7q21.2-q21.3 7q21.2-q21.3 616465 VPS50, CCDC132, KIAA1861 VPS50, EARP/GARPII complex subunit VPS50 55610 ENSG00000004766 Vps50 (MGI:1920538) -chr7 93300000 98400000 7q21 608950 MAGI2IT, PR47 MAGI2 intronic transcript -chr7 93300000 107800000 7q21-q22 154276 MHS3 Malignant hyperthermia susceptibility 3 7977 ?mutation in CACNA2 {Malignant hyperthermia susceptibility 3}, 154276 (2), Autosomal dominant -chr7 93300000 98400000 7q21 612223 STQTL11 Stature quantitative trait locus 11 100270795 associated with rs2282978 {Stature QTL 11}, 612223 (2) -chr7 93424485 93574723 7q21.3 7q21.3 114131 CALCR, CRT Calcitonin receptor CALCR 799 ENSG00000004948 not deleted in Williams syndrome {Osteoporosis, postmenopausal, susceptibility}, 166710 (3), Autosomal dominant Calcr (MGI:101950) -chr7 93483935 93484018 7q21.3 7q21.3 614523 MIR489 Micro RNA 489 MIR489 574442 ENSG00000207656 in intron 4 of CALCR Mir489 (MGI:3619425) -chr7 93885395 93890752 7q22 7q21.3 600033 TFPI2 Tissue factor pathway inhibitor-2 TFPI2 7980 ENSG00000105825 Tfpi2 (MGI:108543) -chr7 93906566 93911264 7q21.3 7q21.3 189970 GNGT1 Guanine nucleotide-binding protein, gamma-transducing activity polypeptide 1 GNGT1 2792 ENSG00000127928 Gngt1 (MGI:109165) -chr7 93921734 93928609 7q21.3 7q21.3 604390 GNG11 Guanine nucleotide-binding protein, gamma 11 GNG11 2791 ENSG00000127920 Gng11 (MGI:1913316) -chr7 93962761 94004354 7q21.3 7q21.3 605456 BET1 Bet1 golgi vesicular membrane-trafficking protein BET1 10282 ENSG00000105829 Bet1 (MGI:1343104) -chr7 94394894 94431226 7q22.1 7q21.3 120160 COL1A2, EDSCV, EDSARTH2 Collagen I, alpha-2 polypeptide COL1A2 1278 ENSG00000164692 ~17cM from CF Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant; {Osteoporosis, postmenopausal}, 166710 (3), Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3), Autosomal dominant; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, 619120 (3), Autosomal dominant; Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3), Autosomal recessive; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant Col1a2 (MGI:88468) -chr7 94509808 94633464 7q21 7q21.3 611686 CASD1, C7orf12 CAS1 domain-containing protein 1 CASD1 64921 ENSG00000127995 Casd1 (MGI:2384865) -chr7 94584979 94656204 7q21 7q21.3 604149 SGCE, DYT11 Sarcoglycan, epsilon SGCE 8910 ENSG00000127990 pseudogene on 2q21; maternally imprinted Dystonia-11, myoclonic, 159900 (3), Autosomal dominant Sgce (MGI:1329042) -chr7 94656324 94669694 7q21 7q21.3 609810 PEG10, KIAA1051 Paternally expressed gene 10 PEG10 23089 ENSG00000242265 Peg10 (MGI:2157785) -chr7 94907201 95296414 7q21.3 7q21.3 602468 PPP1R9A, NRBI, NRB1, KIAA1222 Protein phosphatase 1, regulatory subunit 9A (neurabin I) PPP1R9A 55607 ENSG00000158528 Ppp1r9a (MGI:2442401) -chr7 95297675 95324531 7q21.3 7q21.3 168820 PON1, PON, ESA, MVCD5 Paraoxonase-1 PON1 5444 ENSG00000005421 {Organophosphate poisoning, sensitivity to} (3); {Coronary artery spasm 2, susceptibility to (3); {Coronary artery disease, susceptibility to} (3); {Microvascular complications of diabetes 5}, 612633 (3) Pon1 (MGI:103295) -chr7 95359871 95396374 7q21.3 7q21.3 602720 PON3 Paraoxonase-3 PON3 5446 ENSG00000105852 Pon3 (MGI:106686) -chr7 95404861 95435027 7q21.3 7q21.3 602447 PON2 Paraoxonase-2 PON2 5445 ENSG00000105854 {Coronary artery disease, susceptibility to} (3) Pon2 (MGI:106687) -chr7 95485438 95544737 7q21-q22 7q21.3 605761 ASB4 Ankyrin repeat-containing SOCS box protein 4 ASB4 51666 ENSG00000005981 Asb4 (MGI:1929751) -chr7 95583498 95596515 7q21.3-q22.1 7q21.3 602527 PDK4 Pyruvate dehydrogenase kinase, isoenzyme 4 PDK4 5166 ENSG00000004799 Pdk4 (MGI:1351481) -chr7 95772553 96110321 7q21.3-q22.1 7q21.3 603772 DNCI1 Dynein, cytoplasmic, intermediate chain 1 DYNC1I1 1780 ENSG00000158560 Dync1i1 (MGI:107743) -chr7 96120219 96322126 7q21.3 7q21.3 603859 SLC25A13, CTLN2, NICCD Solute carrier family 25 (mitochondrial carrier, citrin), member 13 SLC25A13 10165 ENSG00000004864 Citrullinemia, type II, neonatal-onset, 605814 (3), Autosomal recessive; Citrullinemia, adult-onset type II, 603471 (3), Autosomal recessive Slc25a13 (MGI:1354721) -chr7 96481625 96709845 7q21.3-q22.1 7q21.3 601285 SEM!, DSS1 Proteasome 26S subunit SEM1 SEM1 7979 ENSG00000127922 ?gene mutant in SHFM1 Sem1 (MGI:109238) -chr7 97005552 97011039 7q22 7q21.3 600030 DLX6 Distal-less homeo box-6 DLX6 1750 ENSG00000006377 Dlx6 (MGI:101927) -chr7 97020395 97024830 7q22 7q21.3 600028 DLX5, SHFM1D, SHFM1 Distal-less homeo box-5 DLX5 1749 ENSG00000105880 mutation identified in 1 SHFM1D family Split-hand/foot malformation 1, 183600 (3), Autosomal dominant; ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3), Autosomal recessive Dlx5 (MGI:101926) -chr7 97117697 97181762 7q21.3 7q21.3 615773 SDHAF3, ACN9 Succinate dehydrogenase complex assembly factor 3 SDHAF3 57001 ENSG00000196636 Sdhaf3 (MGI:1913288) -chr7 97732085 97740471 7q21-q22 7q21.3 162320 TAC1, TAC2, NKNA Tachykinin 1 (substance K; neurokinin A; neurokinin 2; neuromedin L; neuropeptide gamma; tachykinin 2) TAC1 6863 ENSG00000006128 Tac1 (MGI:98474) -chr7 97851676 97928440 7q21-q31 7q21.3 108370 ASNS, ASNSD Asparagine synthetase ASNS 440 ENSG00000070669 temperature sensitive G1 mutant Asparagine synthetase deficiency, 615574 (3), Autosomal recessive Asns (MGI:1350929) -chr7 98106861 98209637 7q21.3-q22.1 7q21.3 610989 LMTK2, KPI2, BREK, KIAA1079 Lemur tyrosine kinase 2 LMTK2 22853 ENSG00000164715 Lmtk2 (MGI:3036247) -chr7 98211438 98215456 7q21 7q21.3 608606 BHLHA15, MIST1 Basic helix-loop-helix family, member A15 BHLHA15 168620 ENSG00000180535 Bhlha15 (MGI:891976) -chr7 98214623 98252234 7q21.3 7q21.3 614781 TECPR1, KIAA1358 Tectonin beta-propeller repeat-containing 1 TECPR1 25851 ENSG00000205356 Tecpr1 (MGI:1917631) -chr7 98281672 98322397 7q21.3 7q21.3 615628 BRI3 Brain protein I3 BRI3 25798 ENSG00000164713 Bri3 (MGI:1933174) -chr7 98291649 98401089 7q21.3-q22.1 7q21.3-q22.1 611877 BAIAP2L1, IRTKS BAI1-associated protein 2-like 1 BAIAP2L1 55971 ENSG00000006453 Baiap2l1 (MGI:1914148) -chr7 98400000 104200000 7q22.1 612130 GAEC1 Gene amplified in esophageal cancer 1 100126794 -chr7 98617284 98629868 7q21.3-q22.1 7q22.1 600750 NPTX2 Neuronal pentraxin 2 NPTX2 4885 ENSG00000106236 Nptx2 (MGI:1858209) -chr7 98878531 99013240 7q21.2-q22.1 7q22.1 603015 TRRAP, DEDDFA, DFNA75 Transformation/transcription domain-associated protein TRRAP 8295 ENSG00000196367 ?mutation identified in 1 DFNA75 family ?Deafness, autosomal dominant 75, 618778 (3), Autosomal dominant; Developmental delay with or without dysmorphic facies and autism, 618454 (3), Autosomal dominant Trrap (MGI:2153272) -chr7 99027434 99144117 7q21.1-q31.1 7q22.1 605568 SMURF1 SMAD ubiquitination regulatory factor 1 SMURF1 57154 ENSG00000198742 Smurf1 (MGI:1923038) -chr7 99145466 99219416 7q22.1 7q22.1 614107 KPNA7 Karyopherin alpha 7 KPNA7 402569 ENSG00000185467 Kpna7 (MGI:2141165) -chr7 99325897 99366261 7q21-q22 7q22.1 604220 ARPC1A, SOP2L Actin-related protein 2/3 complex, subunit 1A ARPC1A 10552 ENSG00000241685 Arpc1a (MGI:1928896) -chr7 99374253 99394815 7q21-q22 7q22.1 604223 ARPC1B, ARC41, IMD71 Actin-related protein 2/3 complex, subunit 1B ARPC1B 10095 ENSG00000130429 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, 617718 (3), Autosomal recessive Arpc1b (MGI:1343142) -chr7 99394672 99408596 7q22.1 7q22.1 607075 PDAP1, PAP1, PAP PDGFA-associated protein 1 PDAP1 11333 ENSG00000106244 Pdap1 (MGI:2448536) -chr7 99408640 99419615 7q22.1 7q22.1 603477 BUD31, G10 Bud31, S. cerevisiae, homolog of BUD31 8896 ENSG00000106245 Bud31 (MGI:2141291) -chr7 99416738 99438797 7q22.1 7q22.1 614774 PTCD1, KIAA0632 Pentatricopeptide repeat domain 1 PTCD1 26024 ENSG00000106246 Ptcd1 (MGI:1919049) -chr7 99438911 99457372 7q21-q22 7q22.1 603052 CPSF4, CPSF30, NEB1 Cleavage-polyadenylation specificity factor 4, 30kD CPSF4 10898 ENSG00000160917 Cpsf4 (MGI:1861602) -chr7 99486518 99500280 7q22.1 7q22.1 619300 ZNF394 Zinc finger protein 394 ZNF394 84124 ENSG00000160908 Zkscan14 (MGI:1914485) -chr7 99504649 99534699 7q22.1 7q22.1 611272 ZKSCAN5, ZFP95, KIAA1015 Zinc finger protein with KRAB and SCAN domains 5 ZKSCAN5 23660 ENSG00000196652 Zkscan5 (MGI:107533) -chr7 99558543 99576452 7q22.1 7q22.1 617891 ZNF655, VIK Zinc finger protein 655 ZNF655 79027 ENSG00000197343 Zfp655 (MGI:1919861) -chr7 99648193 99679995 7q22.1 7q22.1 605325 CYP3A5, P450PCN3 Cytochrome P450, subfamily IIIA, polypeptide 5 CYP3A5 1577 ENSG00000106258 {Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3), Multifactorial Cyp3a59,Cyp3a16,Cyp3a13,Cyp3a57,Cyp3a25,Cyp3a11,Cyp3a44,Cyp3a41a (MGI:3769707,MGI:1930638,MGI:88610,MGI:3646373,MGI:2449818,MGI:106099,MGI:88609,MGI:1858451) -chr7 99705035 99735195 7q22.1 7q22.1 605340 CYP3A7 Cytochrome P450, subfamily IIIA, polypeptide 7 CYP3A7 1551 ENSG00000160870 -chr7 99756966 99784183 7q22.1 7q22.1 124010 CYP3A4, VDDR3 Cytochrome P450, subfamily IIIA (nifedipine oxidase) polypeptide 4 CYP3A4 1576 ENSG00000160868 Vitamin D-dependent rickets, type 3, 619073 (3), Autosomal dominant Cyp3a59,Cyp3a13,Cyp3a57,Cyp3a25,Cyp3a11,Cyp3a44,Cyp3a41a (MGI:3769707,MGI:1930638,MGI:88610,MGI:3646373,MGI:2449818,MGI:88609,MGI:1858451) -chr7 99827625 99867137 7q22.1 7q22.1 606534 CYP3A43 Cytochrome P450, subfamily IIIa, polypeptide 43 CYP3A43 64816 ENSG00000021461 Cyp3a59,Cyp3a16,Cyp3a13,Cyp3a57,Cyp3a25,Cyp3a11,Cyp3a44,Cyp3a41a (MGI:3769707,MGI:1930638,MGI:88610,MGI:3646373,MGI:2449818,MGI:106099,MGI:88609,MGI:1858451) -chr7 99923265 99929619 7q22.1 7q22.1 611925 GJC3, CX30.2, CX31.3 Gap junction protein, gamma-3 GJC3 349149 ENSG00000176402 Gjc3 (MGI:2153041) -chr7 99966729 99976030 7q22.1 7q22.1 194460 AZGP1, ZAG Alpha-2-glycoprotein, zinc AZGP1 563 ENSG00000160862 Azgp1 (MGI:103163) -chr7 100015580 100045373 7q21-q22 7q22.1 601260 ZNF36, KOX18 Zinc finger protein-36 (KOX 18) ZKSCAN1 7586 ENSG00000106261 Zkscan1 (MGI:1921820) -chr7 100049773 100065040 7q21-q22 7q22.1 601261 ZNF38, KOX25 Zinc finger protein-38 (KOX 25) ZSCAN21 7589 ENSG00000166529 Zscan21 (MGI:99182) -chr7 100063836 100082576 7q22.1 7q22.1 194510 ZNF3 Zinc finger protein-3 ZNF3 7551 ENSG00000166526 ?relation to ZNF4, ZNF5; previous assignment to Chr.5 Zfp113 (MGI:1929116) -chr7 100088968 100092186 7q22.1 7q22.1 614729 COPS6, CSN6 COP9 signalosome, subunit 6 COPS6 10980 ENSG00000168090 Cops6 (MGI:1349439) -chr7 100092727 100101396 7q22.1 7q22.1 600592 MCM7, MCM2 Minichromosome maintenance complex component 7 MCM7 4176 ENSG00000166508 Mcm7 (MGI:1298398) -chr7 100093559 100093642 7q22.1 7q22.1 612150 MIR25, MIRN25 Micro RNA 25 MIR25 407014 ENSG00000207547 Mir25 (MGI:3619266) -chr7 100093767 100093846 7q22 7q22.1 612984 MIR93, MIRN9 Micro RNA 93 MIR93 407050 ENSG00000207757 Mir93 (MGI:3619439) -chr7 100093992 100094073 7q22 7q22.1 612983 MIR106B, MIRN106B Micro RNA 106B MIR106B 406900 ENSG00000208036 Mir106b (MGI:3619060) -chr7 100101412 100109038 7q22.1 7q22.1 602296 AP4M1, SPG50, CPSQ3 Adaptor-related protein complex 4, mu-1 subunit AP4M1 9179 ENSG00000221838 Spastic paraplegia 50, autosomal recessive, 612936 (3), Autosomal recessive Ap4m1 (MGI:1337063) -chr7 100107069 100127207 7q22.1 7q22.1 602955 TAF6, TAF2E, TAFII80, ALYUS TAF6 RNA polymerase II, TATA box-binding protein-associated factor, 80kD TAF6 6878 ENSG00000106290 Alazami-Yuan syndrome, 617126 (3), Autosomal recessive Taf6 (MGI:109129) -chr7 100119633 100125507 7q22.1 7q22.1 610047 CNPY4, PRAT4B, MGC40499 Canopy 4, zebrafish, homolog of CNPY4 245812 ENSG00000166997 Cnpy4 (MGI:1913705) -chr7 100140176 100154211 7q22.1 7q22.1 618834 LAMTOR4, C7orf59 Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 4 LAMTOR4 389541 ENSG00000188186 Lamtor4 (MGI:1913346) -chr7 100154422 100158722 7q22.1 7q22.1 618350 MAP11, C7orf43, MCPH25 Microtubule-associated protein 11 TRAPPC14 55262 ENSG00000146826 mutation identified in 1 MCHP25 family ?Microcephaly 25, primary, autosomal recessive, 618351 (3), Autosomal recessive Trappc14 (MGI:2385896) -chr7 100159243 100168616 7q22 7q22.1 608235 GAL3ST4 Galactose-3-O-sulfotransferase 4 GAL3ST4 79690 ENSG00000197093 Gal3st4 (MGI:1916254) -chr7 100169605 100177380 7q22.1 7q22.1 618446 GPC2 Glypican 2 GPC2 221914 ENSG00000213420 Gpc2 (MGI:1919201) -chr7 100177562 100219333 7q22 7q22.1 608489 STAG3, POF8 Stromalin 3 STAG3 10734 ENSG00000066923 Premature ovarian failure 8, 615723 (3), Autosomal recessive Stag3 (MGI:1355311) -chr7 100218624 100221489 7q22.1 7q22.1 617012 PVRIG, CD112R, C7orf15 Poliovirus receptor-related immunoglobulin domain-containing protein PVRIG 79037 ENSG00000213413 Pvrig (MGI:5596028) -chr7 100306797 100322195 7q22.1 7q22.1 617625 SPDYE3, SPDYB2 SPEEDY/RINGO cell cycle regulator family, member E3 SPDYE3 441272 ENSG00000214300 Spdye4b,Spdye4a (MGI:3612701,MGI:1921923) -chr7 100320639 100336306 7q22.1 7q22.1 605038 PMS2P1, PMS2L1, PMS3 Postmeiotic segregation increased 2 pseudogene 1 PMS2P1 5379 ENSG00000078319 -chr7 100358116 100367830 7q22 7q22.1 605342 PILRB Paired immunoglobulin-like receptor, beta PILRB 29990 ENSG00000121716 Pilrb1,Pilrb2,Pilra (MGI:2450529,MGI:2450532,MGI:2450535) -chr7 100372658 100400097 7q22 7q22.1 605341 PILRA Paired immunoglobulin-like receptor, alpha PILRA 29992 ENSG00000085514 Pilrb1,Pilrb2,Pilra (MGI:2450529,MGI:2450532,MGI:2450535) -chr7 100400825 100429995 7q22.1 7q22.1 618900 ZCWPW1 Zinc finger CW-type domain- and PWWP domain-containing protein 1 ZCWPW1 55063 ENSG00000078487 Zcwpw1 (MGI:2685899) -chr7 100428789 100434117 7q22 7q22.1 611478 MEPCE, BCDIN3 Methylphosphate capping enzyme MEPCE 56257 ENSG00000146834 Mepce (MGI:106477) -chr7 100435281 100436614 7q22.1 7q22.1 618937 PPP1R35, C7orf47 Protein phosphatase 1, regulatory subunit 35 PPP1R35 221908 ENSG00000160813 Ppp1r35 (MGI:1922853) -chr7 100466518 100479213 7p21-p15 7q22.1 611914 TSC22D4, THG1 TSC22 domain family, member 4 TSC22D4 81628 ENSG00000166925 Tsc22d4 (MGI:1926079) -chr7 100483926 100494801 7q22.1 7q22.1 615477 NYPA1 Neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1 NYAP1 222950 ENSG00000166924 Nyap1 (MGI:2443880) -chr7 100539202 100568219 7q22.1 7q22.1 604019 AGFG2, HRBL, RABR ADP-ribosylation factor GTPase-activating protein with FG repeats 2 AGFG2 3268 ENSG00000106351 Agfg2 (MGI:2443267) -chr7 100572227 100573899 7q22.1 7q22.1 619230 SAP25 SIN3A-associated protein, 25kD SAP25 100316904 ENSG00000205307 Sap25 (MGI:3802945) -chr7 100582489 100601116 7q22 7q22.1 609097 FBXO24, FBX24 F-box only protein 24 FBXO24 26261 ENSG00000106336 Fbxo24 (MGI:1918426) -chr7 100602362 100608174 7q21.3-q22 7q22.1 600270 PCOLCE Procollagen C-endopeptidase enhancer PCOLCE 5118 ENSG00000106333 Pcolce (MGI:105099) -chr7 100620419 100641551 7q22 7q22.1 604720 TFR2, HFE3 Transferrin receptor 2 TFR2 7036 ENSG00000106327 Hemochromatosis, type 3, 604250 (3), Autosomal recessive Tfr2 (MGI:1354956) -chr7 100643096 100656447 7q22 7q22.1 612458 ACTL6B, BAF53B, IDDSSAD, DEE76 Actin-like 6B ACTL6B 51412 ENSG00000077080 Developmental and epileptic encephalopathy 76, 618468 (3), Autosomal recessive; Intellectual developmental disorder with severe speech and ambulation defects, 618470 (3), Autosomal dominant Actl6b (MGI:1933548) -chr7 100673739 100679168 7q21 7q22.1 139390 GNB2, SSS4 Guanine nucleotide-binding protein, beta polypeptide-2 GNB2 2783 ENSG00000172354 mutation identified in 1 SSS4 family ?Sick sinus syndrome 4, 619464 (3), Autosomal dominant Gnb2 (MGI:95784) -chr7 100679506 100694249 7q22.1 7q22.1 612064 GIGYF1 GRB10-interacting GYF protein 1 GIGYF1 64599 ENSG00000146830 Gigyf1 (MGI:1888677) -chr7 100706120 100707485 7q22 7q22.1 606113 POP7, RPP20 Processing of precursor 7, S. cerevisiae, homolog of POP7 10248 ENSG00000172336 Pop7 (MGI:1921347) -chr7 100720467 100723699 7q21 7q22.1 133170 EPO, MVCD2, ECYT5, DBAL Erythropoietin EPO 2056 ENSG00000130427 mutation identified in 1 DBAL family {Microvascular complications of diabetes 2}, 612623 (3); Erythrocytosis, familial, 5, 617907 (3), Autosomal dominant; ?Diamond-Blackfan anemia-like, 617911 (3), Autosomal recessive Epo (MGI:95407) -chr7 100733594 100797796 7q22 7q22.1 602372 ZAN Zonadhesin ZAN 7455 ENSG00000146839 Zan (MGI:106656) -chr7 100802564 100827522 7q22 7q22.1 600011 EPHB4, HTK, MYK1, HFASD, CMAVM2, LMPHM7 Ephrin receptor EphB4 (hepatoma transmembrane kinase) EPHB4 2050 ENSG00000196411 Capillary malformation-arteriovenous malformation 2, 618196 (3), Autosomal dominant; Lymphatic malformation 7, 617300 (3), Autosomal dominant Ephb4 (MGI:104757) -chr7 100826868 100867011 7q22 7q22.1 616861 SLC12A9, CIP1, CCC6 Solute carrier family 12 (potassium/chloride transporter), member 9 SLC12A9 56996 ENSG00000146828 Slc12a9 (MGI:1933532) -chr7 100867386 100873453 7q22 7q22.1 602933 TRIP6, OIP1 Thyroid hormone receptor interactor-6 TRIP6 7205 ENSG00000087077 Trip6 (MGI:1343458) -chr7 100874970 100888663 7q22 7q22.1 614469 SRRT, ARS2 Serrate RNA effector molecule SRRT 51593 ENSG00000087087 Srrt (MGI:1933527) -chr7 100888720 100889714 7q22.1 7q22.1 611481 UFSP1 UFM1-specific peptidase 1 UFSP1 402682 ENSG00000176125 Ufsp1 (MGI:1917490) -chr7 100889993 100896993 7q22 7q22.1 100740 ACHE, YT Acetylcholinesterase (YT blood group) ACHE 43 ENSG00000087085 blood group YT (112100) = epitope of ACHE [Blood group, Yt system], 112100 (3) Ache (MGI:87876) -chr7 100949533 100968346 7q22 7q22.1 158371 MUC3A Mucin 3A, intestinal MUC3A 4584 ENSG00000169894 Muc3a (MGI:3588263) -chr7 100969564 101018935 7q22 7q22.1 604609 MUC12, MUC11 Mucin 12 MUC12 10071 ENSG00000205277 -chr7 101020080 101058858 7q22 7q22.1 608424 MUC17 Mucin 17 MUC17 140453 ENSG00000169876 Muc3 (MGI:1203527) -chr7 101085423 101097966 7q22.1 7q22.1 616996 TRIM56 Tripartite motif-containing protein 56 TRIM56 81844 ENSG00000169871 Trim56 (MGI:2685298) -chr7 101127103 101139246 7q21.3-q22 7q22.1 173360 PAI1, PLANH1, SERPINE1 Plasminogen activator inhibitor, type I SERPINE1 5054 ENSG00000106366 Plasminogen activator inhibitor-1 deficiency, 613329 (3), Autosomal dominant, Autosomal recessive; {Transcription of plasminogen activator inhibitor, modulator of} (3) Serpine1 (MGI:97608) -chr7 101154475 101161275 7q22.1 7q22.1 603531 AP1S1, CLAPS1, AP19, MEDNIK Adaptor-related protein complex 1, sigma 1 subunit AP1S1 1174 ENSG00000106367 MEDNIK syndrome, 609313 (3), Autosomal recessive Ap1s1 (MGI:1098244) -chr7 101162508 101169955 7q22 7q22.1 602186 VGF VGF nerve growth factor inducible VGF 7425 ENSG00000128564 Vgf (MGI:1343180) -chr7 101170495 101180292 7q22.1 7q22.1 615783 NAT16 N-acetyltransferase 16 NAT16 375607 ENSG00000167011 -chr7 101192885 101201130 7q22.1 7q22.1 610184 MOGAT3, MGAT3 Monoacylglycerol O-acyltransferase 3 MOGAT3 346606 ENSG00000106384 -chr7 101205983 101217580 7q22 7q22.1 603066 PLOD3, LH3 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (lysyl hydroxylase 3) PLOD3 8985 ENSG00000106397 previously assigned to 7q36 Lysyl hydroxylase 3 deficiency, 612394 (3), Autosomal recessive Plod3 (MGI:1347008) -chr7 101218164 101224190 7q22.1 7q22.1 618617 ZNHIT1, ZNFN4A1 Zinc finger HIT domain-containing protein 1 ZNHIT1 10467 ENSG00000106400 Znhit1 (MGI:1917353) -chr7 101232093 101238819 7q22.1 7q22.1 615778 CLDN15 Claudin 15 CLDN15 24146 ENSG00000106404 Cldn15 (MGI:1913103) -chr7 101239471 101245080 7q22.1 7q22.1 609003 FIS1, TTC11 Fission, mitochondrial 1 FIS1 51024 ENSG00000214253 Fis1 (MGI:1913687) -chr7 101308306 101311338 7q22.1 7q22.1 618575 EMSLR, EMS E2F1 mRNA stabilizing long noncoding RNA EMSLR 101927746 -chr7 101362368 101559023 7q22.1 7q22.1 608927 EMID2, EMU2, COL26A1 EMI domain-containing protein 2 COL26A1 136227 ENSG00000160963 Col26a1 (MGI:2155345) -chr7 101613329 101629295 7q22.1 7q22.1 617177 MYL10, PLRLC Myosin light chain 10 MYL10 93408 ENSG00000106436 Myl10 (MGI:1891705) -chr7 101815990 102283957 7q22 7q22.1 116896 CUX1, CUTL1, CDP, GDDI Cut-like homeobox 1 CUX1 1523 ENSG00000257923 Global developmental delay with or without impaired intellectual development, 618330 (3), Autosomal dominant Cux1 (MGI:88568) -chr7 102285140 102321710 7q22 7q22.1 605300 APS Adaptor protein containing PH and SH2 domains SH2B2 10603 Sh2b2 (MGI:1345171) -chr7 102396362 102426665 7q22.1 7q22.1 617458 PRKRIP1, C114 PRKR-interacting protein 1, IL11-inducible PRKRIP1 79706 ENSG00000128563 Prkrip1 (MGI:1914051) -chr7 102433574 102456824 7q22.1 7q22.1 610929 ORAI2, MEM142B, C7orf19 ORAI calcium release-activated calcium modulator 2 ORAI2 80228 ENSG00000160991 Orai2 (MGI:2443195) -chr7 102456219 102464862 7q22.1 7q22.1 613302 ALKBH4, ABH4 AlkB homolog 4, lysine demethylase ALKBH4 54784 ENSG00000160993 Alkbh4 (MGI:1919291) -chr7 102464983 102473167 7q22.1 7q22.1 615167 LRWD1, ORCA Leucine-rich repeats- and WD repeat domain-containing protein 1 LRWD1 222229 ENSG00000161036 Lrwd1 (MGI:1918985) -chr7 102473127 102478933 7q22-q31.1 7q22.1 604150 POLR2J Polymerase II, RNA, subunit J POLR2J 5439 ENSG00000005075 Polr2j (MGI:109582) -chr7 102551231 102565226 7q22.1 7q22.1 617624 SPDYE2, SPDYB2L1 SPEEDY/RINGO cell cycle regulator family, member E2 SPDYE2 441273 ENSG00000205238 Spdye4b,Spdye4a (MGI:3612701,MGI:1921923) -chr7 102579645 102616757 7q22 7q22.1 607943 RASA4, CAPRI, GAPL, KIAA0538 Ras p21 protein activator 4 RASA4 10156 ENSG00000105808 Rasa4 (MGI:1858600) -chr7 102636747 102671734 7q11.2 7q22.1 609881 POLR2J2, RPB11 RNA polymerase II, subunit J2 POLR2J2 246721 ENSG00000267645 -chr7 102810965 103075215 7q22.1 7q22.1 609080 EBXL13, FBL13 F-box and leucine-rich repeat protein 13 FBXL13 222235 ENSG00000161040 Fbxl13 (MGI:2443416) -chr7 102912999 102945110 7q22.1 7q22.1 618749 LRRC17 Leucine-rich repeat-containing protein 17 LRRC17 10234 ENSG00000128606 Lrrc17 (MGI:1921761) -chr7 102973429 102988852 7q22.1 7q22.1 612133 NFE4 Transcription factor NFE4 NFE4 58160 ENSG00000230257 -chr7 103074918 103099772 7q11.2 7q22.1 611864 ARMC10, SVH Armadillo repeat-containing protein 10 ARMC10 83787 ENSG00000170632 Armc10 (MGI:1914461) -chr7 103099775 103150000 7q22.1 7q22.1 612334 NAPEPLD N-acyl phosphatidylethanolamine-hydrolyzing phospholipase D NAPEPLD 222236 ENSG00000161048 Napepld (MGI:2140885) -chr7 103297434 103329901 7q22.1 7q22.1 603131 PMPCB, MPPB Peptidase, mitochondrial processing, beta PMPCB 9512 ENSG00000105819 Multiple mitochondrial dysfunctions syndrome 6, 617954 (3), Autosomal recessive Pmpcb (MGI:1920328) -chr7 103312288 103344789 7q22 7q22.1 605502 DNAJC2, ZRF1, MPP11 DnaJ (Hsp40) homolog, subfamily C, member 2 DNAJC2 27000 ENSG00000105821 Dnajc2 (MGI:99470) -chr7 103344404 103369394 7q22.1-q22.3 7q22.1 154365 PSMC2, MSS1, S7 Proteasome 26S subunit, ATPase, 2 PSMC2 5701 ENSG00000161057 Psmc2 (MGI:109555) -chr7 103352597 103446206 7q22.1 7q22.1 604943 SLC26A5, PRES, DFNB61 Solute carrier family 26, member 5 SLC26A5 375611 ENSG00000170615 mutation identified in 1 DFNB61 family ?Deafness, autosomal recessive 61, 613865 (3), Autosomal recessive Slc26a5 (MGI:1933154) -chr7 103471788 103989657 7q22 7q22.1 600514 RELN, RL, LIS2, ETL7 Reelin RELN 5649 ENSG00000189056 {Epilepsy, familial temporal lobe, 7}, 616436 (3), Autosomal dominant; Lissencephaly 2 (Norman-Roberts type), 257320 (3), Autosomal recessive Reln (MGI:103022) -chr7 104126340 104208012 7q22.1 7q22.1-q22.2 602331 ORC5, ORC5L Origin recognition complex, subunit 5 ORC5 5001 ENSG00000164815 Orc5 (MGI:1347044) -chr7 104328602 104908560 7q22.1 7q22.2-q22.3 609719 LHFPL3 LHFP tetraspan subfmaily, member 3 LHFPL3 375612 ENSG00000187416 Lhfpl3 (MGI:1925076) -chr7 104900000 107800000 7q22 209850 AUTS1 Autism, susceptibility to, 1 100188832 {Autism susceptibility 1}, 209850 (2), Multifactorial, Isolated cases -chr7 104900000 115000000 7q22.3-q31.1 609915 CMD1Q Cardiomyopathy, dilated, 1Q 664728 between D7S2545 and D7S2554 Cardiomyopathy, dilated, 1Q, 609915 (2) -chr7 104900000 132900000 7q22-q32 148750 G7P1 Kinase-like protein -chr7 104900000 107800000 7q22 191390 IBD11 Inflammatory bowel disease 11 100529151 associated with MUC3A {Inflammatory bowel disease 11}, 191390 (2), Multifactorial -chr7 104900000 107800000 7q22.3 614646 MPVQTL6 Mean platelet volume quantitative trait locus 6 100887751 associated with rs342293 Mean platelet volume QTL6, 614646 (2) -chr7 104900000 107800000 7q22 605633 MUC3B Mucin 3B, intestinal MUC3B 57876 -chr7 104900000 107800000 7q22 608580 MYH16 Myosin, heavy chain 16, skeletal muscle MYH16 84176 inactivated in humans; expressed in masticatory muscles in nonhuman primates -chr7 104900000 107800000 7q22 608562 PAPA4 Polydactyly, postaxial, type A4 450096 highest lod with D7S1799 Polydactyly, postaxial, type A4, 608562 (2) -chr7 104900000 132900000 7q22-q32 607458 SCA18, SMNA Spinal cerebellar ataxia 18 94008 between D7S2418 and D7S1804 Spinocerebellar ataxia 18, 607458 (2), Autosomal dominant -chr7 104900000 107800000 7q22 617677 ZASP ZO2-associated speckle protein -chr7 104940948 105115018 7q22 7q22.3 608444 KMT2E, MLL5, ODLURO Lysine (K)-specific methyltransferase 2E KMT2E 55904 ENSG00000005483 O'Donnell-Luria-Rodan syndrome, 618512 (3), Autosomal dominant Kmt2e (MGI:1924825) -chr7 105110707 105399362 7q22.3 7q22.3 602980 SRPK2 SRSF protein kinase 2 SRPK2 6733 ENSG00000135250 Srpk2 (MGI:1201408) -chr7 105456500 105522270 7q22.3 7q22.3 616261 PUS7, KIAA1897, IDDABS Pseudouridylate synthase 7, putative PUS7 54517 ENSG00000091127 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 (3), Autosomal recessive Pus7 (MGI:1925947) -chr7 105532169 105567677 7q22.3 7q22.3 610089 RINT1, ILFS3 RAD50-interacting protein 1 RINT1 60561 ENSG00000135249 Infantile liver failure syndrome 3, 618641 (3), Autosomal recessive Rint1 (MGI:1916233) -chr7 105876749 106036431 7q22.3 7q22.3 615610 CDHR3 Cadherin-related family, member 3 CDHR3 222256 ENSG00000128536 Cdhr3 (MGI:1916014) -chr7 106090504 106112575 7q22.3 7q22.3 616665 SYPL1, SYPL Synaptophysin-like 1 SYPL1 6856 ENSG00000008282 Sypl (MGI:108081) -chr7 106248297 106284982 7q22.2 7q22.3 608764 NAMPT, PBEF1, VF, PBEF Nicotinamide phosphoribosyltransferase NAMPT 10135 ENSG00000105835 Nampt (MGI:1929865) -chr7 106865281 106908979 7q22 7q22.3 601232 PIK3CG Phosphatidylinositol 3-kinase, catalytic, gamma PIK3CG 5294 ENSG00000105851 Pik3cg (MGI:1353576) -chr7 107044704 107161810 7q22 7q22.3 176912 PRKAR2B Protein kinase, cAMP-dependent, regulatory, type II, beta PRKAR2B 5577 ENSG00000005249 Prkar2b (MGI:97760) -chr7 107168986 107202522 7q22.3 7q22.3 616714 HBP1 HMG-box transcription factor 1 HBP1 26959 ENSG00000105856 Hbp1 (MGI:894659) -chr7 107201371 107564360 7q31 7q22.3 606821 COG5, GOLTC1, GTC90, CDG2I Component of oligomeric golgi complex 5 COG5 10466 ENSG00000164597 Congenital disorder of glycosylation, type IIi, 613612 (3), Autosomal recessive Cog5 (MGI:2145130) -chr7 107470056 107476206 7q22-q31.1 7q22.3 601910 GPR22 G protein-coupled receptor-22 GPR22 2845 ENSG00000172209 Gpr22 (MGI:1920260) -chr7 107660827 107717808 7q31 7q22.3 605646 SLC26A4, PDS, DFNB4, EVA, TDH2B Solute carrier family 26 (sulfate transporter), member 4 SLC26A4 5172 ENSG00000091137 some patients have digenic mutations with FOXI1 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3), Autosomal recessive; Pendred syndrome, 274600 (3), Autosomal recessive Slc26a4 (MGI:1346029) -chr7 107743835 107764996 7q22.3 7q22.3 606872 CBLL1, HAKAI, RNF188 Cas-Br-M murine ectopic retroviral transforming sequence like-1 CBLL1 79872 ENSG00000105879 Cbll1 (MGI:2144842) -chr7 107765468 107803222 7q22-q31.1 7q22.3-q31.1 126650 SLC26A3, DRA, CLD Solute carrier family 26 (sulfate transporter), member 3 SLC26A3 1811 ENSG00000091138 5' and close to PDS Diarrhea 1, secretory chloride, congenital, 214700 (3), Autosomal recessive Slc26a3 (MGI:107181) -chr7 107891106 107921197 7q31-q32 7q31.1 238331 DLD, LAD, PHE3, DLDD Dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex) DLD 1738 ENSG00000091140 Dihydrolipoamide dehydrogenase deficiency, 246900 (3), Autosomal recessive Dld (MGI:107450) -chr7 107923798 108003175 7q31.1-q31.3 7q31.1 150240 LAMB1, LIS5 Laminin, beta-1 LAMB1 3912 ENSG00000091136 Lissencephaly 5, 615191 (3), Autosomal recessive Lamb1 (MGI:96743) -chr7 108011661 108130360 7q31.1 7q31.1 616380 LAMB4 Laminin, beta-4 LAMB4 22798 ENSG00000091128 -chr7 108147648 108456719 7q31.1-q31.2 7q31.1 601581 NRCAM Neuronal cell adhesion molecule NRCAM 4897 ENSG00000091129 Nrcam (MGI:104750) -chr7 108470416 108528177 7q31 7q31.1 612123 PNPLA8, MMLA Patatin-like phospholipase domain-containing protein 8 PNPLA8 50640 ENSG00000135241 mutation identified in 1 MMLA family ?Mitochondrial myopathy with lactic acidosis, 251950 (3), Autosomal recessive Pnpla8 (MGI:1914702) -chr7 108562131 108569767 7q31.1 7q31.1 612534 THAP5 THAP domain-containing protein 5 THAP5 168451 ENSG00000177683 -chr7 108569873 108574849 7q31.1 7q31.1 602634 DNAJB9, MDG1 DnaJ, E. coli, homolog of, subfamily B, member 9 (microvascular endothelial differentiation gene-1) DNAJB9 4189 ENSG00000128590 previously assigned to chr.14 by FISH Dnajb9 (MGI:1351618) -chr7 110662643 111562530 7q31 7q31.1 605977 IMMP2L, IMP2 Inner mitochondrial membrane peptidase, subunit 2, S. cerevisiae, homolog of IMMP2L 83943 ENSG00000184903 Immp2l (MGI:2135611) -chr7 111726109 112206398 7q31 7q31.1 607679 DOCK4, KIAA0716 Dedicator of cytokinesis 4 DOCK4 9732 ENSG00000128512 Dock4 (MGI:1918006) -chr7 112206611 112343933 7q31.1 7q31.1 605465 ZNF277 Zinc finger protein-277 ZNF277 11179 ENSG00000198839 Zfp277 (MGI:1890393) -chr7 112423173 112477202 7q22-q31 7q31.1 603502 IFRD1 Interferon-related developmental regulator 1 IFRD1 3475 ENSG00000006652 Ifrd1 (MGI:1316717) -chr7 112819146 112939874 7q31.1 7q31.1 617855 BMT2, SAMTOR, C7orf60 Base methyltransferase of 25S rRNA 2, S. cerevisiae, homolog of BMT2 154743 ENSG00000164603 Bmt2 (MGI:2141466) -chr7 113081853 113087723 7q31 7q31.1 605188 GPR85, SREB2 G protein-coupled receptor-85 GPR85 54329 ENSG00000164604 Gpr85 (MGI:1927851) -chr7 113876776 113919093 7q11.23-q21.11 7q31.1 600917 PPP1R3A, PPP1R3 Protein phosphatase 1, regulatory subunit 3A PPP1R3A 5506 ENSG00000154415 Insulin resistance, severe, digenic, 125853 (3), Autosomal dominant Ppp1r3a (MGI:2153588) -chr7 114086326 114693764 7q31 7q31.1 605317 FOXP2, SPCH1, TNRC10, CAGH44 Forkhead box P2 FOXP2 93986 ENSG00000128573 Speech-language disorder-1, 602081 (3), Autosomal dominant Foxp2 (MGI:2148705) -chr7 114922093 115019916 7q31.1 7q31.1-q31.2 614511 MDFIC, HIC MYOD family inhibitor domain-containing protein MDFIC 29969 ENSG00000135272 Mdfic (MGI:104611) -chr7 115935151 116159890 7q31.2 7q31.2 604732 TFEC, TFECL Transcription factor EC TFEC 22797 ENSG00000105967 Tfec (MGI:1333760) -chr7 116210538 116258785 7q31.2 7q31.2 606085 TES Testin TES 26136 ENSG00000135269 Tes,Tesl1 (MGI:105081,MGI:3648288) -chr7 116499737 116508540 7q31.1 7q31.2 601048 CAV2 Caveolin-2 CAV2 858 ENSG00000105971 Cav2 (MGI:107571) -chr7 116525008 116561184 7q31.1 7q31.2 601047 CAV1, BSCL3, CGL3, PPH3, LCCNS Caveolin-1 CAV1 857 ENSG00000105974 mutation identified in 1 CGL3 family ?Lipodystrophy, congenital generalized, type 3, 612526 (3), Autosomal recessive; Pulmonary hypertension, primary, 3, 615343 (3), Autosomal dominant; Lipodystrophy, familial partial, type 7, 606721 (3), Autosomal dominant Cav1 (MGI:102709) -chr7 116672195 116798385 7q31 7q31.2 164860 MET, DFNB97, OSFD Oncogene MET MET 4233 ENSG00000105976 mutation identified in 1 DFNB97 family Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3); Hepatocellular carcinoma, childhood type, somatic, 114550 (3); {Osteofibrous dysplasia, susceptibility to}, 607278 (3), Autosomal dominant; ?Deafness, autosomal recessive 97, 616705 (3), Autosomal recessive Met (MGI:96969) -chr7 116862586 116922048 7q31.2-q31.3 7q31.2 601571 CAPZA2, CAPPA2 Capping protein (actin filament) muscle Z-line, alpha 2 CAPZA2 830 ENSG00000198898 Capza2 (MGI:106222) -chr7 116953500 117230175 7q31.1 7q31.2 600833 ST7, TSG7, RAY1, FAM4A1 Suppressor of tumorigenicity 7 (breast) ST7 7982 ENSG00000004866 St7 (MGI:1927450) -chr7 117275450 117323057 7q31 7q31.2 147870 WNT2, INT1L1 Wingless-type MMTV integration site family, member 2 WNT2 7472 ENSG00000105989 isolated by CMGT with MET Wnt2 (MGI:98954) -chr7 117363221 117427492 7q31.3 7q31.2 605797 ASZ1, ALP1, ANKL1, GASZ Ankyrin repeat, SAM, and basic leucine zipper domain-containing 1 ASZ1 136991 ENSG00000154438 Asz1 (MGI:1921318) -chr7 117480024 117668664 7q31.2 7q31.2 602421 CFTR, ABCC7, CF, MRP7 Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7) CFTR 1080 ENSG00000001626 distal and 5' to MET Cystic fibrosis, 219700 (3), Autosomal recessive; Sweat chloride elevation without CF (3); Congenital bilateral absence of vas deferens, 277180 (3), Autosomal recessive; {Pancreatitis, hereditary}, 167800 (3), Autosomal dominant; {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3), Autosomal dominant; {Hypertrypsinemia, neonatal} (3) Cftr (MGI:88388) -chr7 117710647 117873817 7q31 7q31.31 609772 CTTNBP2, CORTBP2, KIAA1758 Cortactin-binding protein 2 CTTNBP2 83992 ENSG00000077063 Cttnbp2 (MGI:1353467) -chr7 118184163 118204034 7q31.31 7q31.31 607288 LSM8 LSM8, S. cerevisiae, homolog of, U6 small nuclear RNA associated LSM8 51691 ENSG00000128534 Lsm8 (MGI:1923772) -chr7 118224703 118242731 7q31.3 7q31.31 610731 ANKRD7 Ankyrin repeat domain-containing protein 7 ANKRD7 56311 ENSG00000106013 Ankrd7 (MGI:1922446) -chr7 120273174 120750336 7q31 7q31.31 605410 KCND2, KIAA1044 Potassium voltage-gated channel, Shal-related subfamily, member 2 KCND2 3751 ENSG00000184408 Kcnd2 (MGI:102663) -chr7 120787319 120858336 7q31 7q31.31 613138 TSPAN12, NET2, EVR5 Tetraspanin 12 TSPAN12 23554 ENSG00000106025 Exudative vitreoretinopathy 5, 613310 (3), Autosomal dominant Tspan12 (MGI:1889818) -chr7 120950748 120977215 7q31 7q31.31 607493 ING3, P47ING3 Inhibitor of growth family, member 3 ING3 54556 ENSG00000071243 Ing3 (MGI:1919027) -chr7 121325366 121341103 7q31.3 7q31.31 606267 WNT16 Wingless-type MMTV integration site family, member 16 WNT16 51384 ENSG00000002745 Wnt16 (MGI:2136018) -chr7 121348850 121396368 7q31.3 7q31.31 608618 FAM3C Family with sequence similarity 3, member C FAM3C 10447 ENSG00000196937 Fam3c (MGI:107892) -chr7 121873160 122062035 7q31.3 7q31.32 176891 PTPRZ1, PTP18 Protein-tyrosine phosphatase, receptor-type, zeta-1, polypeptide PTPRZ1 5803 ENSG00000106278 Ptprz1 (MGI:97816) -chr7 122073543 122144268 7q31.3 7q31.32 605113 AASS Alpha-aminoadipic semialdehyde synthase AASS 10157 ENSG00000008311 Hyperlysinemia, 238700 (3), Autosomal recessive Aass (MGI:1353573) -chr7 122300938 122311854 7q31.32 7q31.32 613301 FEZF1, FEZ, ZNF312B, HH22 FEZ family zinc finger protein 1 FEZF1 389549 ENSG00000128610 Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3), Autosomal recessive Fezf1 (MGI:1920441) -chr7 122318410 122886499 7q31.3 7q31.32 609978 CADPS2, KIAA1591 Calcium-dependent activator protein for secretion 2 CADPS2 93664 ENSG00000081803 Cadps2 (MGI:2443963) -chr7 122994703 122995699 7q31 7q31.32 604867 TAS2R16, T2R16, BGLPT Taste receptor type 2, member 16 TAS2R16 50833 ENSG00000128519 [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to}, 617956 (3), Autosomal dominant Tas2r118 (MGI:2681247) -chr7 123113489 123201835 7q31-q32 7q31.32 606193 SLC13A1, NAS1 Solute carrier family 13 (sodium/sulfate symporters), member 1 SLC13A1 6561 ENSG00000081800 Slc13a1 (MGI:1859937) -chr7 123536996 123601650 7q32 7q31.32 601677 NDUFA5, UQOR13 NADH-ubiquinone oxidoreductase subunit A5 NDUFA5 4698 ENSG00000128609 Ndufa5 (MGI:1915452) -chr7 123655865 123664289 7q31.32 7q31.32 608006 LMOD2, CLMOD Leiomodin 2 LMOD2 442721 ENSG00000170807 Lmod2 (MGI:2135672) -chr7 123681942 123749002 7q31.3 7q31.32 605056 WASL, NWASP WASP-like actin nucleation-promoting factor WASL 8976 ENSG00000106299 Wasl (MGI:1920428) -chr7 123763707 123877480 7q31 7q31.32 604510 HYAL4 Hyaluronoglucosaminidase 4 HYAL4 23553 ENSG00000106302 Hyal4 (MGI:1924292) -chr7 123925240 123971413 7q31 7q31.32 600930 SPAM1 Sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) SPAM1 6677 ENSG00000106304 Hyal5,Spam1 (MGI:1921718,MGI:109335) -chr7 124100000 127500000 7q31 611015 AUTS9 Autism, susceptibility to, 9 max lod near D7S530 {Autism, susceptibility to, 9}, 611015 (2) -chr7 124100000 127500000 7q31 603678 DFNB14 Deafness, autosomal recessive 14 1706 ?same as DFNB17 Deafness, autosomal recessive 14, 603678 (2), Autosomal recessive -chr7 124100000 127500000 7q31 603010 DFNB17 Deafness, autosomal recessive 17 1709 Deafness, autosomal recessive 17, 603010 (2), Autosomal recessive -chr7 124100000 127500000 7q31.3 606256 STQTL2 Stature quantitative trait locus 2 192143 max lod at D7S195 {Stature QTL 2}, 606256 (2) -chr7 124743884 124765791 7q31 7q31.33 602583 GPR37 G protein-coupled receptor-37 GPR37 2861 ENSG00000170775 Gpr37 (MGI:1313297) -chr7 124822385 124929824 7q31.33 7q31.33 606478 POT1, CMM10, GLM9 Protection of telomeres 1 POT1 25913 ENSG00000128513 {Glioma susceptibility 9}, 616568 (3), Autosomal dominant; {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3), Autosomal dominant Pot1b,Pot1a (MGI:1920086,MGI:2141503) -chr7 126438597 127252940 7q31.3-q32.1 7q31.33 601116 GRM8 Glutamate receptor, metabotropic-8 GRM8 2918 ENSG00000179603 Grm8 (MGI:1351345) -chr7 127580627 127585595 7q32.1 7q32.1 607418 GCC1, GCC88 GRIP and coiled-coil domains-containing protein 1 GCC1 79571 ENSG00000179562 Gcc1 (MGI:1921625) -chr7 127588410 127591699 7q31.3 7q32.1 103188 ARF5 ADP-ribosylation factor 5 ARF5 381 ENSG00000004059 Arf5 (MGI:99434) -chr7 127593735 127602143 7q31.3 7q32.1 615800 FSCN3 Fascin actin-bundling protein 3, testicular FSCN3 29999 ENSG00000106328 Fscn3 (MGI:1890386) -chr7 127610291 127618141 7q32 7q32.1 167413 PAX4, MODY9, KPD Paired box homeotic gene-4 PAX4 5078 ENSG00000106331 {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3), Autosomal dominant, Autosomal recessive; Maturity-onset diabetes of the young, type IX, 612225 (3); Diabetes mellitus, type 2, 125853 (3), Autosomal dominant Pax4 (MGI:97488) -chr7 127652144 128092592 7q31.3 7q32.1 602181 P100, SND1 EBNA-2 coactivator p100 SND1 27044 ENSG00000197157 Snd1 (MGI:1929266) -chr7 128027070 128032106 7q32.1 7q32.1 610486 LRRC4 Leucine-rich repeat-containing protein 4 LRRC4 64101 ENSG00000128594 Lrrc4 (MGI:2182081) -chr7 128241200 128257628 7q31.3 7q32.1 164160 LEP, OB, LEPD Leptin (murine obesity homolog) LEP 3952 ENSG00000174697 in mouse cen-Cola-2-Met-ob-Cpa-Tcrb-tel Obesity, morbid, due to leptin deficiency, 614962 (3), Autosomal recessive Lep (MGI:104663) -chr7 128297684 128343907 7q32.1 7q32.1 612074 RBM28, ANES RNA-binding motif protein 28 RBM28 55131 ENSG00000106344 mutation identified in 1 ANES family ?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3), Autosomal recessive Rbm28 (MGI:2655711) -chr7 128392276 128409988 7q31.3-q32 7q32.1 146690 IMPDH1, RP10, LCA11 Inosine-5'-monophosphate dehydrogenase, type I IMPDH1 3614 ENSG00000106348 pseudogene on 16p13.13 Retinitis pigmentosa 10, 180105 (3), Autosomal dominant; Leber congenital amaurosis 11, 613837 (3), Autosomal dominant Impdh1 (MGI:96567) -chr7 128455877 128458417 7q32.1 7q32.1 617905 HILPDA, HIG2 Hypoxia-inducible lipid droplet-associated protein HILPDA 29923 ENSG00000135245 Hilpda (MGI:1916823) -chr7 128476747 128506601 7q32.1 7q32.1 607846 METTL2B, METL Methyltransferase-like 2B METTL2B 55798 ENSG00000165055 Mettl2 (MGI:1289171) -chr7 128739358 128773399 7q32 7q32.1 603420 CALU Calumenin CALU 813 ENSG00000128595 Calu (MGI:1097158) -chr7 128772484 128775793 7q31.3-q32 7q32.1 613522 OPN1SW, BCP, CBT Blue cone pigment (opsin 1, short-wave-sensitive) OPN1SW 611 ENSG00000128617 Colorblindness, tritan, 190900 (3), Autosomal dominant Opn1sw (MGI:99438) -chr7 128790761 128822129 7q31-q32 7q32.1 611902 CCDC136, NAG6, KIAA1793 Coiled-coil domain-containing protein 136 CCDC136 64753 ENSG00000128596 Ccdc136 (MGI:1918128) -chr7 128830405 128859271 7q32 7q32.1 102565 FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5 Filamin C (actin-binding protein-280) FLNC 2318 ENSG00000128591 Cardiomyopathy, familial hypertrophic, 26, 617047 (3), Autosomal dominant; Cardiomyopathy, familial restrictive 5, 617047 (3), Autosomal dominant; Myopathy, distal, 4, 614065 (3), Autosomal dominant; Myopathy, myofibrillar, 5, 609524 (3), Autosomal dominant Flnc (MGI:95557) -chr7 128862855 128865846 7q32.1 7q32.1 607160 ATP6V1F ATPase, H+ transporting, lysosomal, 14kD, V1 subunit F ATP6V1F 9296 ENSG00000128524 Atp6v1f (MGI:1913394) -chr7 128870644 128910718 7q32.3 7q32.1 609344 KCP Kielin/chordin-like protein KCP 375616 ENSG00000135253 Kcp (MGI:2141640) -chr7 128937031 128950037 7q32 7q32.1 607218 IRF5, IBD14, SLEB10 Interferon regulatory factor 5 IRF5 3663 ENSG00000128604 {Inflammatory bowel disease 14}, 612245 (3); {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3) Irf5 (MGI:1350924) -chr7 128954184 129055110 7q32.1 7q32.1 610032 TNPO3, TRNSR, LGMDD2 Transportin 3 TNPO3 23534 ENSG00000064419 Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3), Autosomal dominant Tnpo3 (MGI:1196412) -chr7 129144706 129169698 7q32.1 7q32.1 610120 TSPAN33, PEN Tetraspanin 33 TSPAN33 340348 ENSG00000158457 Tspan33 (MGI:1919012) -chr7 129188632 129213547 7q31-q32 7q32.1 601500 SMO, SMOH, CRJS, PHLS Smoothened, frizzled class receptor SMO 6608 ENSG00000128602 Pallister-Hall-like syndrome, 241800 (3), Autosomal recessive; Basal cell carcinoma, somatic, 605462 (3); Curry-Jones syndrome, somatic mosaic, 601707 (3) Smo (MGI:108075) -chr7 129225029 129430210 7q32.1 7q32.1 616520 AHCYL2 Adenosylhomocysteinase-like 2 AHCYL2 23382 ENSG00000158467 Ahcyl2 (MGI:1921590) -chr7 129434431 129488398 7q32.1 7q32.1 617919 STRIP2, FAR11B, FAM40B Striatin-interacting protein 2 STRIP2 57464 ENSG00000128578 Strip2 (MGI:2444363) -chr7 129600000 152800000 7q32.2-q36.1 146450 HYSP3 Hypospadias 3, autosomal 100689211 between D7S2519 and D7S2442. Hypospadias 3, autosomal, 146450 (2), Autosomal dominant, Multifactorial -chr7 129611719 129757075 7q32 7q32.2 600879 NRF1 Nuclear respiratory factor 1 NRF1 4899 ENSG00000106459 earlier location = 7q31 Nrf1 (MGI:1332235) -chr7 129770382 129770491 7q32.2 7q32.2 611607 MIR182, MIRN182 Micro RNA 182 MIR182 406958 ENSG00000207990 Mir182 (MGI:2676846) -chr7 129774691 129774768 7q32.2 7q32.2 611606 MIR96, MIRN96, DFNA50 Micro RNA 96 MIR96 407053 ENSG00000199158 Deafness, autosomal dominant 50, 613074 (3), Autosomal dominant Mir96 (MGI:3619440) -chr7 129774904 129775013 7q32.2 7q32.2 611608 MIR183, MIRN183 Micro RNA 183 MIR183 406959 ENSG00000207691 Mir183 (MGI:2676847) -chr7 129830731 129952959 7q32 7q32.2 601082 UBE2H, UBCH2, UBC8 Ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8) UBE2H 7328 ENSG00000186591 Ube2h (MGI:104632) -chr7 130070531 130135704 7q32.2 7q32.2 615152 KLHDC10, SLIM Kelch domain-containing protein 10 KLHDC10 23008 ENSG00000128607 Klhdc10 (MGI:1924038) -chr7 130266862 130289797 7q32 7q32.2 600688 CPA2 Carboxypeptidase A2, pancreatic CPA2 1358 ENSG00000158516 Cpa2 (MGI:3617840) -chr7 130293160 130324179 7q32 7q32.2 607635 CPA4, CPA3 Carboxypeptidase A4 CPA4 51200 ENSG00000128510 Cpa4 (MGI:1919041) -chr7 130344790 130368729 7q32.2 7q32.2 609561 CPA5 Carboxypeptidase A5 CPA5 93979 ENSG00000158525 Cpa5 (MGI:1921899) -chr7 130380493 130388107 7q32-qter 7q32.2 114850 CPA1 Carboxypeptidase A CPA1 1357 ENSG00000091704 both CPA and TRY1 = serine proteases Cpa1 (MGI:88478) -chr7 130393770 130441056 7q32 7q32.2 610523 CEP41, TSGA14, JBTS15 Centrosomal protein, 41kD CEP41 95681 ENSG00000106477 Joubert syndrome 15, 614464 (3), Autosomal recessive Cep41 (MGI:1891414) -chr7 130486041 130490976 7q32.2 7q32.2 607794 MESTIT1 MEST intronic transcript 1 MESTIT1 317751 ENSG00000272701 -chr7 130486174 130506464 7q32 7q32.2 601029 MEST, PEG1 Mesoderm specific transcript, mouse, homolog of MEST 4232 ENSG00000106484 imprinted maternally Mest (MGI:96968) -chr7 130496110 130496203 7q32.2 7q32.2 611768 MIR335 Micro RNA 335 MIR335 442904 ENSG00000199043 Mir335 (MGI:3619348) -chr7 130506237 130668747 7q32 7q32.2 604355 COPG2 Coatomer protein complex, subunit gamma-2 COPG2 26958 ENSG00000158623 Copg2 (MGI:1858683) -chr7 130543452 130546899 7q32 7q32.2 610581 COPG2IT1, CIT1 Coatomer protein complex, subunit gamma-2, intronic transcript 1 COPG2IT1 53844 -chr7 130730696 130734206 7q32.2 7q32.2 609393 LKF14, BTEB5 Kruppel-like factor 14 KLF14 136259 ENSG00000266265 Klf14 (MGI:3577024) -chr7 130800000 132900000 7q32 613063 BCC6 Basal cell carcinoma, susceptibility to, 6 100307123 associated with rs157935 {Basal cell carcinoma, susceptibility to, 6}, 613063 (2) -chr7 130800000 132900000 7q32.3 606641 BMIQ1 Body mass index quantitative trait locus 1 170815 max lod at D7S1804 [Body mass index QTL1], 606641 (2) -chr7 130800000 132900000 7q32 600676 CATR1 CATR tumorigenic conversion 1 CATR1 856 -chr7 130800000 132900000 7q32 614220 PBC4 Biliary cirrhosis, primary, 4 100689215 associated with rs10488631 Biliary cirrhosis, primary, 4, 614220 (2) -chr7 130800000 132900000 7q32 609573 PPR3 Photoparoxysmal response 3 619471 max lod at D7S1804 Photoparoxysmal response 3, 609573 (2) -chr7 130800000 138500000 7q32-q33 613909 SCA32 Spinocerebellar ataxia 32 between rs3847110 and rs2241728 Spinocerebellar ataxia 32, 613909 (2), Autosomal dominant -chr7 130876746 130876809 7q32.3 7q32.3 610782 MIR29A, MIRN29A Micro RNA 29A MIR29A 407021 ENSG00000284032 Mir29a (MGI:2676904) -chr7 130877458 130877538 7q32.3 7q32.3 610783 MIR29B1, MIRN29B1 Micro RNA 29B1 MIR29B1 407024 ENSG00000283797 Mir29b-1 (MGI:2676905) -chr7 130877561 131109924 7q32.3 7q32.3 618212 LINC-PINT, PINT Long intergenic noncoding RNA, p53-induced transcript LINC-PINT 378805 ENSG00000231721 Lncpint (MGI:2673128) -chr7 131110093 131496636 7q32 7q32.3 605623 MKLN1 Muskelin 1 MKLN1 4289 ENSG00000128585 Mkln1 (MGI:1351638) -chr7 131500270 131556627 7q32-q33 7q32.3 602632 PODXL, PCLP Podocalyxin-like PODXL 5420 ENSG00000128567 Podxl (MGI:1351317) -chr7 132123339 132648687 7q32.3 7q32.3 604280 PLXNA4 Plexin A4 PLXNA4 91584 ENSG00000221866 Plxna4 (MGI:2179061) -chr7 132784869 133082089 7q32.3-q33 7q32-q33 613748 CHCHD3 Coiled-coil-helix-coiled-coil-helix domain-containing protein 3 CHCHD3 54927 ENSG00000106554 Chchd3 (MGI:1913325) -chr7 133253074 134067136 7q31 7q33 608185 EXOC4, SEC8, KIAA1699 Exocyst complex component 4 EXOC4 60412 ENSG00000131558 Exoc4 (MGI:1096376) -chr7 134127339 134282474 7q33 7q33 616478 LRGUK Leucine-rich repeats- and guanylate kinase domain-containing protein LRGUK 136332 ENSG00000155530 Lrguk (MGI:1921604) -chr7 134289331 134320306 7q33 7q33 610923 SLC35B4 Solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 SLC35B4 84912 ENSG00000205060 Slc35b4 (MGI:1931249) -chr7 134442349 134459238 7q35 7q33 103880 AKR1B1, ALDR1 Aldo-keto reductase family 1, member B1 AKR1B1 231 ENSG00000085662 Akr1b3 (MGI:1353494) -chr7 134527566 134541411 7q33 7q33 604707 AKR1B10, ARL1 Aldo-keto reductase family 1, member B10 AKR1B10 57016 ENSG00000198074 Akr1b10,Akr1b8,Akr1b7 (MGI:101918,MGI:107673,MGI:1915111) -chr7 134549109 134579868 7q33 7q33 616336 AKR1B15, AKR1B10L, AKR1R1B7 Aldo-keto reductase family 1, member B15 AKR1B15 441282 ENSG00000227471 Akr1b8 (MGI:107673) -chr7 134646852 134679815 7q31-q34 7q33 613896 BPGM, ECYT8 2,3-bisphosphoglycerate mutase BPGM 669 ENSG00000172331 Erythrocytosis, familial, 8, 222800 (3), Autosomal recessive Bpgm (MGI:1098242) -chr7 134779628 134970728 7q33 7q33 114213 CALD1, CDM Caldesmon-1 CALD1 800 ENSG00000122786 Cald1 (MGI:88250) -chr7 134986138 135135781 7q33 7q33 617346 AGBL3, CCP3 ATP/GTP-binding protein-like 3 AGBL3 340351 ENSG00000146856 Agbl3 (MGI:1923473) -chr7 135092302 135170820 7q33 7q33 616980 CYREN, C7orf49, MRI Cell cycle regulator of nonhomologous end joining CYREN 78996 ENSG00000122783 Cyren (MGI:1925662) -chr7 135183838 135211555 7q33 7q33 616303 WDR91, SORF1 WD repeat-containing protein 91 WDR91 29062 ENSG00000105875 Wdr91 (MGI:2141558) -chr7 135231914 135258662 7q31 7q33 609987 STRA8 Stimulated by retinoic acid 8, mouse, homolog of STRA8 346673 ENSG00000146857 Stra8 (MGI:107917) -chr7 135361794 135510101 7q22-qter 7q33 604911 CNOT4, NOT4 CCR4-NOT transcription complex, subunit 4 CNOT4 4850 ENSG00000080802 Cnot4 (MGI:1859026) -chr7 135557916 135648752 7q33 7q33 614352 NUP205, C7orf14, KIAA0225, NPHS13 Nucleoporin, 205kD NUP205 23165 ENSG00000155561 mutation identified in 1 NPHS13 family ?Nephrotic syndrome, type 13, 616893 (3), Autosomal recessive Nup205 (MGI:2141625) -chr7 135662513 135676415 7q33 7q33 618755 STMP1, C7orf73, MM47 Short transmembrane mitochondrial protein 1 STMP1 647087 ENSG00000243317 -chr7 135681230 135728185 7q33 7q33 604309 SLC13A4, SUT1 Solute carrier family 13 (sodium/sulfate symporters), member 4 (sulfate transporter 1) SLC13A4 26266 ENSG00000164707 Slc13a4 (MGI:2442367) -chr7 135926759 135977358 7q33 7q33 611050 LUZP6, MPD6 Leucine zipper protein 6 LUZP6 767558 -chr7 135926759 135977358 7q33-q35 7q33 606484 MTPN Myotrophin MTPN 136319 ENSG00000105887 Mtpn (MGI:99445) -chr7 136868651 137020212 7q35-q36 7q33 118493 CHRM2 Cholinergic receptor, muscarinic, 2 CHRM2 1129 ENSG00000181072 Chrm2 (MGI:88397) -chr7 136903166 136903293 7q33 7q33 616972 MIR490 Micro RNA 490 MIR490 574443 ENSG00000207597 Mir490 (MGI:3629662) -chr7 137227340 137343732 7q33 7q33 162095 PTN, NEGF1 Pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1) PTN 5764 ENSG00000105894 Ptn (MGI:97804) -chr7 137381036 137846973 7q32.3-q33 7q33 604072 DGKI Diacylglycerol kinase, iota, 130-kD DGKI 9162 ENSG00000157680 Dgki (MGI:2443430) -chr7 137874978 138002085 7q33 7q33 608834 CREB3L2, BBF2H7 cAMP response element-binding protein 3-like 2 CREB3L2 64764 ENSG00000182158 Creb3l2 (MGI:2442695) -chr7 138076458 138118304 7q32-q33 7q33 604741 AKR1D1, SRD5B1, CBAS2 Bile acid synthesis defect, congenital, 2 AKR1D1 6718 ENSG00000122787 Bile acid synthesis defect, congenital, 2, 235555 (3), Autosomal recessive Akr1d1 (MGI:2384785) -chr7 138460258 138589995 7q32-q34 7q33-q34 603406 TRIM24, TIF1, TIF1A, PTC6 Tripartite motif-containing protein 24 (Transcriptional intermediary factor 1) TRIM24 8805 ENSG00000122779 fused with RET to form PTC6 Trim24 (MGI:109275) -chr7 138500000 143400000 7q34 614158 BDPLT14 Bleeding disorder, platelet-type, 14 116814566 Bleeding disorder, platelet-type, 14, 614158 (2), Autosomal dominant -chr7 138500000 159345973 7q34-q36 603098 DFNB13 Deafness, autosomal recessive 13 1705 Deafness, autosomal recessive 13, 603098 (2), Autosomal recessive -chr7 138500000 159345973 7q34-q36 182960 DHMN1 Neuronopathy, distal hereditary motor, type I between D7S2513 and D7S637 Neuronopathy, distal hereditary motor, type I, 182960 (2), Autosomal dominant -chr7 138500000 159345973 7q34-q36 605727 OTSC2 Otosclerosis 2 93999 Otosclerosis 2, 605727 (2) -chr7 138500000 143400000 7q34 615449 TRBJ@ T-cell receptor beta chain joining gene cluster -chr7 138500000 143400000 7q34 615446 TRBV@ T-cell receptor beta chain variable gene cluster -chr7 138591688 138701361 7q34 7q34 611700 SVOPL SV2-related protein-like SVOPL 136306 ENSG00000157703 Svopl (MGI:2444335) -chr7 138706293 138799838 7q33-q34 7q34 605239 ATP6V0A4, ATP6N1B, VPP2, RTA1C, DRTA3 ATPase, H+ transporting, V0 subunit A4 ATP6V0A4 50617 ENSG00000105929 Distal renal tubular acidosis 3, with or without sensorineural hearing loss, 602722 (3), Autosomal recessive Atp6v0a4 (MGI:2153480) -chr7 138831376 138981625 7q34 7q34 613344 KIAA1549, RP86 KIAA1549 gene KIAA1549 57670 ENSG00000122778 Retinitis pigmentosa 86, 618613 (3), Autosomal recessive D630045J12Rik (MGI:2669829) -chr7 139043514 139109719 7q34 7q34 607312 ZC3HAV1, ZAP, FLJ13288, FLB6421 Zinc finger CCCH domain-containing antiviral protein 1 ZC3HAV1 56829 ENSG00000105939 Zc3hav1 (MGI:1926031) -chr7 139133777 139191985 7q34 7q34 617453 TTC26, IFT56 Tetratricopeptide repeat domain-containing protein 26 TTC26 79989 ENSG00000105948 Ttc26 (MGI:2444853) -chr7 139228407 139329420 7q34 7q34 613841 UBN2 Ubinuclein 2 UBN2 254048 ENSG00000157741 Ubn2 (MGI:2444236) -chr7 139340471 139423453 7q34 7q34 613056 LUC7L2 LUC7-like 2 pre-mRNA splicing factor LUC7L2 51631 ENSG00000146963 Luc7l2 (MGI:2183260) -chr7 139561569 139777997 7q33-q34 7q34 606868 HIPK2 Homeodomain-interacting protein kinase 2 HIPK2 28996 ENSG00000064393 Hipk2 (MGI:1314872) -chr7 139778241 140020292 7q34 7q34 274180 TBXAS1, GHOSAL, CYP5 Thromboxane A synthase 1, platelet TBXAS1 6916 ENSG00000059377 Ghosal hematodiaphyseal syndrome, 231095 (3), Autosomal recessive Tbxas1 (MGI:98497) -chr7 140023743 140063717 7q34 7q34 612481 PARP12, ZC3HDC1, FLJ22693 Poly(ADP-ribose) polymerase family, member 12 PARP12 64761 ENSG00000059378 Parp12 (MGI:2143990) -chr7 140333751 140398529 7q34 7q34 619137 SLC37A3, SPX3 Solute carrier family 37, member A3 SLC37A3 84255 ENSG00000157800 Slc37a3 (MGI:1919394) -chr7 140453032 140479568 7q34 7q34 607754 MKRN1 Makorin 1 MKRN1 23608 ENSG00000133606 Mkrn1 (MGI:1859353) -chr7 140696707 140706642 7q34 7q34 603838 NDUFB2 NADH-ubiquinone oxidoreductase subunit B2 NDUFB2 4708 ENSG00000090266 Ndufb2 (MGI:1915448) -chr7 140713327 140924928 7q34 7q34 164757 BRAF, NS7 B-Raf proto-oncogene, serine/threonine kinase BRAF 673 ENSG00000157764 pseudogene BRAF2 on Xq13 or 7q Melanoma, malignant, somatic, 155600 (3); LEOPARD syndrome 3, 613707 (3), Autosomal dominant; Cardiofaciocutaneous syndrome, 115150 (3), Autosomal dominant; Adenocarcinoma of lung, somatic, 211980 (3); Noonan syndrome 7, 613706 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Nonsmall cell lung cancer, somatic, 211980 (3) Braf (MGI:88190) -chr7 141002609 141014951 7q32-q34 7q34 611993 MRPS33 Mitochondrial ribosomal protein S33 MRPS33 51650 ENSG00000090263 4 pseudogenes Mrps33 (MGI:1338046) -chr7 141551409 141662152 7q34 7q34 610345 AGK, MULK, MTDPS10, CATC5, CTRCT38 Acylglycerol kinase AGK 55750 ENSG00000006530 Cataract 38, autosomal recessive, 614691 (3), Autosomal recessive; Sengers syndrome, 212350 (3), Autosomal recessive Agk (MGI:1917173) -chr7 141708352 141731270 7q34 7q34 614084 WEE2, WEE1B, OOMD5 Wee1, S. pombe, homolog of, 2 WEE2 494551 ENSG00000214102 Oocyte maturation defect 5, 617996 (3), Autosomal recessive Wee2 (MGI:3027899) -chr7 141738320 141750487 7q34 7q34 600439 SSBP1, SSBP, OPA13 Single-stranded DNA-binding protein 1 SSBP1 6742 ENSG00000106028 Optic atrophy 13 with retinal and foveal abnormalities, 165510 (3), Autosomal dominant Ssbp1 (MGI:1920040) -chr7 141764096 141765196 7q31.3-q32 7q34 604868 TAS2R3, T2R3 Taste receptor type 2, member 3 TAS2R3 50831 ENSG00000127362 Tas2r137 (MGI:3606604) -chr7 141776673 141781690 7q31.3-q32 7q34 604869 TAS2R4, T2R4 Taste receptor type 2, member 4 TAS2R4 50832 ENSG00000127364 Tas2r108 (MGI:2681210) -chr7 141790216 141791366 7q31.3-q32 7q34 605062 TAS2R5, T2R5 Taste receptor type 2, member 5 TAS2R5 54429 ENSG00000127366 -chr7 141927355 141947008 7q33 7q34 604987 CLEC5A, CLECSF5, MDL1 C-type lectin domain family 5, member A CLEC5A 23601 ENSG00000258227 Clec5a (MGI:1345151) -chr7 141972630 141973772 7q34 7q34 607751 TAS2R38, T2R61, PTC, THIOT Taste receptor, type 2, member 38 TAS2R38 5726 ENSG00000257138 [Phenylthiocarbamide tasting], 171200 (3), Autosomal dominant Tas2r138 (MGI:2681306) -chr7 141986516 142106746 7q34 7q34 154360 MGAM, MGA Maltase-glucoamylase MGAM 8972 ENSG00000257335 similar to EST GS1365 Mgam (MGI:1203495) -chr7 142740234 142753075 7q35 7q34 276000 PRSS1, TRY1 Protease, serine, 1 (trypsin 1) PRSS1 5644 ENSG00000204983 8 trypsinogen genes embedded in TCRB locus Pancreatitis, hereditary, 167800 (3), Autosomal dominant 2210010C04Rik,Try10 (MGI:1914623,MGI:3687012) -chr7 142770969 142774559 7q35 7q34 601564 PRSS2, TRY2 Protease, serine, 2 (trypsin 2) PRSS2 5645 ENSG00000275896 {Pancreatitis, chronic, protection against}, 167800 (3), Autosomal dominant Try5,Try4,Try10 (MGI:3687012,MGI:102756,MGI:102757) -chr7 142786212 142786223 7q34 7q34 615447 TRBD1 T-cell receptor beta chain diversity gene 1 TRBD1 28637 ENSG00000282431 -chr7 142791693 142793140 7q34 7q34 186930 TRBC1 T-cell receptor beta chain constant region 1 TRBC1 28639 ENSG00000211751 -chr7 142795704 142795719 7q34 7q34 615448 TRBD2 T-cell receptor beta chain diversity gene 2 TRBD2 28636 -chr7 142801040 142802528 7q34 7q34 615445 TRBC2 T-cell receptor beta chain constant region 2 TRBC2 28638 ENSG00000211772 -chr7 142854638 142871092 7q33-q35 7q34 602757 EPHB6, HEP Ephrin receptor EPHB6 EPHB6 2051 ENSG00000106123 Ephb6 (MGI:1096338) -chr7 142871207 142885744 7q33-q34 7q34 606680 TRPV6, ECAC2, CAT1, CATL, HRPTTN Transient receptor potential cation channel, subfamily V, member 6 TRPV6 55503 ENSG00000165125 Hyperparathyroidism, transient neonatal, 618188 (3), Autosomal recessive Trpv6 (MGI:1927259) -chr7 142908100 142933745 7q35 7q34 606679 TRPV5, ECAC1, CAT2 Transient receptor potential cation channel, subfamily V, member 5 TRPV5 56302 ENSG00000127412 Trpv5 (MGI:2429764) -chr7 142939483 142940867 7q34 7q34 618946 LLCFC1, C7orf34, SOF1 LLLL motif- and CFNLAS motif-containing protein 1 LLCFC1 135927 ENSG00000165131 Llcfc1 (MGI:1923856) -chr7 142941113 142962362 7q33 7q34 613883 KEL Kell blood group KEL 3792 ENSG00000197993 [Blood group, Kell], 110900 (3) Kel (MGI:1346053) -chr7 143132076 143139738 7q32-q36 7q34 176720 PIP Prolactin-inducible protein PIP 5304 ENSG00000159763 Pip (MGI:102696) -chr7 143222036 143223078 7q34 7q34 613964 TAS2R40, T2R40 Taste receptor, type 2, member 40 TAS2R40 259286 ENSG00000221937 Tas2r144 (MGI:2681312) -chr7 143263440 143269114 7q34 7q34 602321 GSTK1 Glutathione S-transferase, kappa-1 GSTK1 373156 ENSG00000197448 Gstk1 (MGI:1923513) -chr7 143284898 143288048 7q34 7q34 616524 TMEM139 Transmembrane protein 139 TMEM139 135932 ENSG00000178826 Tmem139 (MGI:1924444) -chr7 143288350 143307695 7q35 7q34 600639 CASP2, NEDD2, ICH1 Caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2) CASP2 835 ENSG00000106144 Casp2 (MGI:97295) -chr7 143316110 143352082 7q35 7q34 118425 CLCN1 Chloride channel-1, skeletal muscle CLCN1 1180 ENSG00000188037 Myotonia levior, recessive (3); Myotonia congenita, recessive, 255700 (3), Autosomal recessive; Myotonia congenita, dominant, 160800 (3), Autosomal dominant Clcn1 (MGI:88417) -chr7 143353399 143382303 7q34 7q34 619282 FAM131B, KIAA0773 Family with sequence similarity 131, member B FAM131B 9715 ENSG00000159784 Fam131b (MGI:1923406) -chr7 143381344 143391110 7q34-q35 7q34 602002 ZYX Zyxin ZYX 7791 ENSG00000159840 Zyx (MGI:103072) -chr7 143391128 143408855 7q32-q36 7q34-q35 179610 EPHA1, EPHT1 eph tyrosine kinase 1 (erythropoietin-producing hepatoma amplified sequence; oncogene EPH; ephrin receptor EphA1) EPHA1 2041 ENSG00000146904 Epha1 (MGI:107381) -chr7 143400000 159345973 7q35-q36 600510 GPDS1, PDS1 Glaucoma-related pigment dispersion syndrome-1 7986 Pigment dispersion syndrome, 600510 (2), Autosomal dominant -chr7 143400000 159345973 7q35-q36 612514 SLI4 Specific language impairment 4 100233227 associated with rs1723629 {Specific language impairment 4}, 612514 (2) -chr7 143443452 143444408 7q35 7q35 613968 TAS2R60, T2R60 Taste receptor, type 2, member 60 TAS2R60 338398 ENSG00000185899 Tas2r135 (MGI:2681302) -chr7 143477872 143478795 7q35 7q35 613965 TAS2R41, T2R59 Taste receptor, type 2, member 41 TAS2R41 259287 ENSG00000221855 Tas2r126 (MGI:2681273) -chr7 143620973 143730409 7q35 7q35 616252 TCAF2, FAM115C, FAM139A TRPM8 channel-associated factor 2 TCAF2 285966 ENSG00000170379 Tcaf2,Tcaf3 (MGI:2385258,MGI:3042585) -chr7 143851374 143902197 7q35 7q35 616251 TCAF1, FAM115A, KIAA0738 TRPM8 channel-associated factor 1 TCAF1 9747 ENSG00000198420 Tcaf1 (MGI:1914665) -chr7 143907151 143964359 7q35 7q35 608497 OR2F1, OLF3 Olfactory receptor, family 2, subfamily F, member 1 OR2F1 26211 ENSG00000213215 Olfr453,Olfr38 (MGI:3030287,MGI:1313140) -chr7 144355395 144380631 7q33-q35 7q35 600888 ARHGEF5, TIM Rho guanine nucleotide exchange factor-5 (oncogene TIM) ARHGEF5 7984 ENSG00000050327 Arhgef5 (MGI:1858952) -chr7 144396804 144410421 7q35 7q35 610934 NOBOX, POF5 NOBOX oogenesis homeobox NOBOX 135935 ENSG00000106410 Premature ovarian failure 5, 611548 (3), Autosomal dominant Nobox (MGI:108011) -chr7 144451940 144836423 7q34 7q35 606370 TPK1, THMD5 Thiamine pyrophosphokinase TPK1 27010 ENSG00000196511 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3), Autosomal recessive Tpk1 (MGI:1352500) -chr7 146116206 148420997 7q35-q36 7q-q 604569 CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1 Contactin-associated protein-like 2 CNTNAP2 26047 ENSG00000174469 Pitt-Hopkins like syndrome 1, 610042 (3), Autosomal recessive; Cortical dysplasia-focal epilepsy syndrome, 610042 (3), Autosomal recessive; {Autism susceptibility 15}, 612100 (3) Cntnap2 (MGI:1914047) -chr7 148697755 148801109 7q36.1 7q36.1 603134 CUL1 Cullin 1 CUL1 8454 ENSG00000055130 Cul1 (MGI:1349658) -chr7 148807373 148884343 7q35 7q36.1 601573 EZH2, EZH1, WVS Enhancer of zeste, Drosophila, homolog of, 2 EZH2 2146 ENSG00000106462 pseudogene on 21q22 Weaver syndrome, 277590 (3), Autosomal dominant Ezh2 (MGI:107940) -chr7 148941487 148941570 7q36 7q36.1 601824 RNY5, Y5 RNA, Y5 small cytoplasmic RNY5 6090 -chr7 148963314 148963409 7q36 7q36.1 601823 RNY4, Y4 RNA, Y4 small cytoplasmic RNY4 6086 ENSG00000252316 -chr7 148983754 148983855 7q36 7q36.1 601822 RNY3, Y3 RNA, Y3 small cytoplasmic RNY3 6085 ENSG00000202354 -chr7 148987135 148987247 7q36 7q36.1 601821 RNY1, Y1 RNA, Y1 small cytoplasmic RNY1 6084 ENSG00000201098 Rny1 (MGI:97995) -chr7 149126407 149183041 7q36.1 7q36.1 618593 ZNF398, ZER6 Zinc finger protein 398 ZNF398 57541 ENSG00000197024 Zfp398 (MGI:1917856) -chr7 149195494 149226242 7q36.1 7q36.1 603397 ZNF282, HUB1 Zinc finger protein 282 ZNF282 8427 ENSG00000170265 Zfp282 (MGI:2141413) -chr7 149239650 149255605 7q36.1 7q36.1 602386 ZNF212, ZNFC150, ZNF182 Zinc finger protein 212 ZNF212 7988 ENSG00000170260 Zfp212 (MGI:2682609) -chr7 149431362 149461061 7q36.1 7q36.1 619298 ZNF777 Zinc finger protein 777 ZNF777 27153 ENSG00000196453 Zfp777 (MGI:1919556) -chr7 149472695 149497808 7q36.1 7q36.1 613914 ZNF746, PARIS Zinc finger protein 746 ZNF746 155061 ENSG00000181220 Zfp746 (MGI:1916478) -chr7 149764181 149776322 7q36.1 7q36.1 614040 ZNF467, EZI, ZFP467 Zinc finger protein 467 ZNF467 168544 ENSG00000181444 Zfp467 (MGI:1916160) -chr7 149776041 149833964 7q36.1 7q36.1 617356 SSPOP, SSPO SCO-spondin, pseudogene SSPOP 23145 ENSG00000197558 Sspo (MGI:2674311) -chr7 149872963 149880712 7q36 7q36.1 611019 ATP6V0E2 ATPase, H+ transporting, V0 subunit E2 ATP6V0E2 155066 ENSG00000171130 Atp6v0e2 (MGI:1923502) -chr7 150041354 150045371 7q36.1 7q36.1 615171 LOC100134040 LOC100134040 gene 100134040 -chr7 150329848 150332720 7q36.1 7q36.1 615252 ZBED6CL, C7orf29 ZBED6 C terminus-like protein ZBED6CL 113763 ENSG00000188707 -chr7 150338328 150341684 7q36.1 7q36.1 601973 RARRES2, TIG2 Retinoic acid receptor responder 2 RARRES2 5919 ENSG00000106538 Rarres2 (MGI:1918910) -chr7 150368095 150374042 7q36.1 7q36.1 619039 REPIN1, RIP60, AP4 Replication initiator 1 REPIN1 29803 ENSG00000214022 Repin1 (MGI:1889817) -chr7 150450629 150479394 7q36.1 7q36.1 616962 GIMAP8 GTPase, IMAP family, member 8 GIMAP8 155038 ENSG00000171115 Gimap8 (MGI:2685303) -chr7 150514871 150521072 7q36.1 7q36.1 616961 GIMAP7 GTPase IMAP family, member 7 GIMAP7 168537 ENSG00000179144 Gimap9,Gimap7 (MGI:3511744,MGI:1349657) -chr7 150567389 150573952 7q36.1 7q36.1 608087 GIMAP4, IMAP4, IAN1 GTPase, IMAP family, member 4 GIMAP4 55303 ENSG00000133574 Gimap4 (MGI:1349656) -chr7 150625374 150632384 7q36.1 7q36.1 616960 GIMAP6 GTPase, IMAP family, member 6 GIMAP6 474344 ENSG00000133561 Gimap6 (MGI:1918876) -chr7 150685705 150693640 7q36.1 7q36.1 608085 GIMAP2, IMAP2 GTPase, IMAP family, member 2 GIMAP2 26157 ENSG00000106560 -chr7 150716612 150724283 7q36.1 7q36.1 608084 GIMAP1, IMAP1 GTPase, IMAP family, member 1 GIMAP1 170575 ENSG00000213203 Gimap1 (MGI:109368) -chr7 150737417 150743645 7q36.1 7q36.1 608086 GIMAP5, IAN4L1, IMAP3, NCPH2 GTPase, IMAP family, member 5 GIMAP5 55340 ENSG00000196329 Portal hypertension, noncirrhotic, 2, 619463 (3), Autosomal recessive Gimap5,Gimap3 (MGI:2442232,MGI:1932723) -chr7 150791286 150801359 7q36.1 7q36.1 610385 LR8 LR8 protein TMEM176B 28959 ENSG00000106565 Tmem176b (MGI:1916348) -chr7 150800542 150805118 7q36.1 7q36.1 610334 TEM176A, HCA112, GS188 Transmembrane protein 176A TMEM176A 55365 ENSG00000002933 Tmem176a (MGI:1913308) -chr7 150824874 150861503 7q31-q32 7q36.1 104610 ABP1 Amiloride-binding protein-1 AOC1 26 ENSG00000002726 Aoc1,Aoc1l1,Aoc1l2,Aoc1l3 (MGI:2682321,MGI:3618290,MGI:1917011,MGI:1923757) -chr7 150944955 150978320 7q35-q36 7q36.1 152427 KCNH2, LQT2, HERG, SQT1 Potassium voltage-gated channel, subfamily H, member 2 (human ether-a-go-go-related gene) KCNH2 3757 ENSG00000055118 Short QT syndrome 1, 609620 (3); Long QT syndrome 2, 613688 (3), Autosomal dominant; {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3), Autosomal dominant Kcnh2 (MGI:1341722) -chr7 150991016 151014587 7q36 7q36.1 163729 NOS3 Nitric oxide synthase 3, endothelial cell NOS3 4846 ENSG00000164867 {Coronary artery spasm 1, susceptibility to} (3); {Hypertension, susceptibility to}, 145500 (3), Multifactorial; {Placental abruption} (3); {Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant; {Hypertension, pregnancy-induced}, 189800 (3), Autosomal dominant; {Ischemic stroke, susceptibility to}, 601367 (3), Multifactorial Nos3 (MGI:97362) -chr7 151012208 151028266 7q36.1 7q36.1 612205 ATG9B, NOS3AS, APG9L2, SONE Autophagy related 9B ATG9B 285973 ENSG00000181652 Atg9b (MGI:2685420) -chr7 151028449 151047781 7q35-q36 7q36.1 605464 ABCB8, MABC1 ATP-binding cassette, subfamily B, member 8 ABCB8 11194 ENSG00000197150 Abcb8 (MGI:1351667) -chr7 151048291 151052755 7q35 7q36.1 611741 ACCN3, ASIC3, TNAC1, DRASIC Cation channel, amiloride-sensitive, neuronal 3 ASIC3 9311 ENSG00000213199 Asic3 (MGI:2159339) -chr7 151053814 151057896 7q36 7q36.1 123831 CDK5, LIS7 Cyclin-dependent kinase 5 CDK5 1020 ENSG00000164885 mutation identified in 1 LIS7 family ?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3), Autosomal recessive Cdk5 (MGI:101765) -chr7 151058199 151076526 7q35-q36 7q36.1 109280 SLC4A2, AE2, EPB3L1 Solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) SLC4A2 6522 ENSG00000164889 Slc4a2 (MGI:109351) -chr7 151076620 151080860 7q35 7q36.1 606965 FASTK, FAST Fas-activated serine/threonine kinase FASTK 10922 ENSG00000164896 Fastk (MGI:1913837) -chr7 151081084 151083492 7q36.1 7q36.1 614792 TMUB1, DULP, SB144, C7orf21 Transmembrane and ubiquitin-like domain-containing protein 1 TMUB1 83590 ENSG00000164897 Tmub1 (MGI:1923764) -chr7 151085866 151144434 7q36.1 7q36.1 616813 AGAP3, CENTG3, CRAG ARF GTPase-activating protein with GTPase domain, ankyrin repeat, and pleckstrin homology domain 3 AGAP3 116988 ENSG00000133612 Agap3 (MGI:2183446) -chr7 151148008 151167693 7q36 7q36.1 603354 GBX1 Gastrulation brain homeobox 1 GBX1 2636 ENSG00000164900 Gbx1 (MGI:95667) -chr7 151175697 151187791 7q36.1 7q36.1 615054 ASB10, GLC1F Ankyrin repeat- and SOCS box-containing protein 10 ASB10 136371 ENSG00000146926 Glaucoma 1, open angle, F, 603383 (3), Autosomal dominant Asb10 (MGI:2152836) -chr7 151211483 151227204 7q36 7q36.1 612510 ABCF2, HUSSY18 ATP-binding cassette, subfamily F, member 2 ABCF2 10061 ENSG00000033050 Abcf2 (MGI:1351657) -chr7 151232482 151238821 7q36.1 7q36.1 608037 CHPF2, KIAA1402, CSGlcAT Chondroitin polymerizing factor 2 CHPF2 54480 ENSG00000033100 Chpf2 (MGI:1917522) -chr7 151238420 151238537 7q36.1 7q36.1 615245 MIR671 Micro RNA 671 MIR671 768213 ENSG00000284191 Mir671 (MGI:3629656) -chr7 151238779 151277451 7q35-q36 7q36.1 601737 SMARCD3, BAF60C SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 3 SMARCD3 6604 ENSG00000082014 Smarcd3 (MGI:1914243) -chr7 151341698 151378448 7q36.1 7q36.1 607981 NUB1 Negative regulator of ubiquitin-like proteins 1 NUB1 51667 ENSG00000013374 Nub1 (MGI:1889001) -chr7 151428831 151448789 7q36.1 7q36.1 609603 CRYGN Crystallin, gamma-N CRYGN 155051 ENSG00000127377 Crygn (MGI:2449167) -chr7 151466011 151519894 7q36 7q36.1 601293 RHEB, RHEB2 Ras homolog enriched in brain RHEB 6009 ENSG00000106615 Rheb (MGI:97912) -chr7 151556123 151877114 7q36 7q36.1 602743 PRKAG2, WPWS, CMH6 Protein kinase, AMP-activated, noncatalytic, gamma-2 PRKAG2 51422 ENSG00000106617 Glycogen storage disease of heart, lethal congenital, 261740 (3), Autosomal dominant; Wolff-Parkinson-White syndrome, 194200 (3), Autosomal dominant; Cardiomyopathy, hypertrophic 6, 600858 (3), Autosomal dominant Prkag2 (MGI:1336153) -chr7 151956405 152019928 7q36.1 7q36.1 615133 GALNTL5, GALNACT19 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 GALNTL5 168391 ENSG00000106648 Galntl5 (MGI:1915159) -chr7 152025673 152122344 7q36.1 7q36.1 615130 GALNT11, GALNACT11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 GALNT11 63917 ENSG00000178234 Galnt11 (MGI:2444392) -chr7 152134924 152436641 7q36 7q36.1 606833 KMT2C, MLL3, KIAA1506, KLEFS2 Lysine (K)-specific methyltransferase 2C KMT2C 58508 ENSG00000055609 Kleefstra syndrome 2, 617768 (3), Autosomal dominant Kmt2c (MGI:2444959) -chr7 152644775 152676140 7q36.1 7q36.1 600375 XRCC2, FANCU, SPGF50, POF17 X-ray repair cross complementing 2 XRCC2 7516 ENSG00000196584 mutation identified in 1 FANCU patient and 1 POF17 patient Spermatogenic failure, 619145 (3); ?Premature ovarian failure 17, 619146 (3); ?Fanconi anemia, complementation group U, 617247 (3), Autosomal recessive Xrcc2 (MGI:1927345) -chr7 153748132 154894284 7q36.2 7q36.2 126141 DPP6, VF2, MRD33 Dipeptidylpeptidase VI DPP6 1804 ENSG00000130226 Mental retardation, autosomal dominant 33, 616311 (3); {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3), Autosomal dominant Dpp6 (MGI:94921) -chr7 154943689 155003418 7q36 7q36.2 608254 PAXIP1, PAXIP1L, PTIP PAX transcription activation domain-interacting protein 1 PAXIP1 22976 ENSG00000157212 Paxip1 (MGI:1890430) -chr7 155070323 155087391 7q36.1 7q36.2 601305 HTR5A 5-hydroxytryptamine (serotonin) receptor-5A HTR5A 3361 ENSG00000157219 Htr5a (MGI:96283) -chr7 155200000 159345973 7q36 605967 ACRPS Acropectoral syndrome 85505 Acropectoral syndrome, 605967 (2), Autosomal dominant -chr7 155200000 159345973 7q36 609636 AD10 Alzheimer disease-10 780912 max lod with D7S798 Alzheimer disease-10, 609636 (2), Autosomal dominant -chr7 155200000 159345973 7q36 611016 AUTS10 Autism, susceptibility to, 10 max lod at D7S483 {Autism, susceptibility to, 10}, 611016 (2) -chr7 155200000 159345973 7q36.3 613959 SCZD16, C16DUPq36.3, DUP7q36.3 Chromosome 7q36.3 duplication syndrome, 362kb 362kb duplication that includes VIPR2 Schizophrenia 16, 613959 (4) -chr7 155297877 155310234 7q36 7q36.3 602055 INSIG1 Insulin-induced gene 1 INSIG1 3638 ENSG00000186480 Insig1 (MGI:1916289) -chr7 155356987 155367932 7q36 7q36.3 608450 BLACE B-cell acute lymphoblastic leukemia-expressed gene BLACE 338436 ENSG00000204960 -chr7 155458128 155464830 7q36 7q36.3 131310 EN2 Engrailed-2 EN2 2020 ENSG00000164778 En2 (MGI:95390) -chr7 155501128 155546558 7q36.3 7q36.3 612493 CNPY1 Canopy 1, zebrafish, homolog of CNPY1 285888 ENSG00000146910 Cnpy1 (MGI:2442451) -chr7 155799979 155812462 7q36 7q36.3 600725 SHH, HPE3, HLP3, SMMCI, MCOPCB5 Sonic hedgehog signaling molecule SHH 6469 ENSG00000164690 separate from TPT1 Microphthalmia with coloboma 5, 611638 (3), Autosomal dominant; Schizencephaly, 269160 (3); Single median maxillary central incisor, 147250 (3), Autosomal dominant; Holoprosencephaly 3, 142945 (3), Autosomal dominant Shh (MGI:98297) -chr7 156472098 156640534 7q36 7q36.3 610242 C7orf13 Chromosome 7 open reading frame 13 LINC01006 100506380 ENSG00000182648 overlaps RNF32 on the opposite strand -chr7 156640201 156678332 7q36 7q36.3 610241 RNF32 RING finger protein 32 RNF32 140545 ENSG00000105982 Rnf32 (MGI:1861747) -chr7 156669011 156893182 7q36 7q36.3 605522 LMBR1, ACHP, C7orf2, PPD2, THYP, LSS Limb region 1, mouse, homolog of LMBR1 64327 ENSG00000105983 Triphalangeal thumb, type I, 174500 (3), Autosomal dominant; Syndactyly, type IV, 186200 (3), Autosomal dominant; Laurin-Sandrow syndrome, 135750 (3), Autosomal dominant; Hypoplastic or aplastic tibia with polydactyly, 188740 (3), Autosomal dominant; Polydactyly, preaxial type II, 174500 (3), Autosomal dominant; Acheiropody, 200500 (3), Autosomal recessive; Triphalangeal thumb-polysyndactyly syndrome, 174500 (3), Autosomal dominant Lmbr1 (MGI:1861746) -chr7 156949711 156973175 7q36 7q36.3 611269 NOM1, C7orf3 Nucleolar protein with MIF4G domain 1 NOM1 64434 ENSG00000146909 Nom1 (MGI:1861749) -chr7 157004853 157010662 7q36 7q36.3 142994 MNX1, HLXB9, HOXHB9, SCRA1 Motor neuron and pancreas homeobox 1 MNX1 3110 ENSG00000130675 Currarino syndrome, 176450 (3), Autosomal dominant Mnx1 (MGI:109160) -chr7 157138925 157269369 7q36.3 7q36.3 614454 UBE3C, HECTH2, KIAA0010, KIAA10 Ubiquitin protein ligase E3C UBE3C 9690 ENSG00000009335 Ube3c (MGI:2140998) -chr7 157337003 157417438 7q36.3 7q36.3 611332 DNAJB6, MRJ, DJ4, LGMDD1 DNAJ/HSP40 homolog, subfamily B, member 6 DNAJB6 10049 ENSG00000105993 Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3), Autosomal dominant Dnajb6 (MGI:1344381) -chr7 157539055 158587822 7q36 7q36.3 601698 PTPRN2, IAR, ICAAR Protein-tyrosine phosphatase, receptor-type, N, polypeptide 2 PTPRN2 5799 ENSG00000155093 Ptprn2 (MGI:107418) -chr7 158631168 158704815 7q36.3 7q36.3 608532 NCAPG2, CAPG2, MTB, 3KS Non-SMC condensin II complex subunit G2 NCAPG2 54892 ENSG00000146918 Khan-Khan-Katsanis syndrome, 618460 (3), Autosomal recessive Ncapg2 (MGI:1923294) -chr7 158730996 158829576 7q36.3 7q36.3 616691 ESYT2, FAM62B Extended synaptotagmin-like protein 2 ESYT2 57488 ENSG00000117868 Esyt2 (MGI:1261845) -chr7 158839244 158958694 7q36.3 7q36.3 615462 WDR60, SRTD8, SRPS6 WD repeat containing protein 60 DYNC2I1 55112 ENSG00000126870 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3), Autosomal recessive Dync2i1 (MGI:2445085) -chr7 159028174 159144956 7q36.3 7q36.3 601970 VIPR2 Vasoactive intestinal peptide receptor 2 VIPR2 7434 ENSG00000106018 Vipr2 (MGI:107166) -chr7 0 159345973 Chr.7 608391 AIS2, VAMAS3 Autoimmune disease, susceptibility to, 2 378426 {Autoimmune disease, susceptibility to, 2}, 608391 (2) -chr7 0 159345973 Chr.7 118880 NHCP2 Nonhistone chromosomal protein-2 -chr8 0 19200000 8p23.3-p22 606129 DBA2 Diamond-Blackfan anemia 2 114086 Diamond-Blackfan anemia 2, 606129 (2) -chr8 406812 477966 8p23.3 8p23.3 609098 FBXO25, FBX25 F-box only protein 25 FBXO25 26260 ENSG00000147364 Fbxo25 (MGI:1914072) -chr8 489945 545779 8p23 8p23.3 619049 TDRP Testis development-related protein TDRP 157695 ENSG00000180190 Tdrp (MGI:1919398) -chr8 737627 1708475 8p 8p23.3 605438 DLGAP2, DAP2 Discs large associated protein 2 DLGAP2 9228 ENSG00000198010 Dlgap2 (MGI:2443181) -chr8 1755777 1786569 8p23 8p23.3 607837 CLN8, EPMR CLN8 transmembrane ER and ERGIC protein CLN8 2055 ENSG00000182372 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 8, 600143 (3), Autosomal recessive Cln8 (MGI:1349447) -chr8 1823925 1958640 8p23 8p23.3 608136 ARHGEF10, KIAA0294, SNCV Rho guanine nucleotide exchange factor 10 ARHGEF10 9639 ENSG00000104728 mutation identified in 1 SNCV family ?Slowed nerve conduction velocity, AD, 608236 (3), Autosomal dominant Arhgef10 (MGI:2444453) -chr8 1970717 2006942 8p23.3 8p23.3 618794 KBTBD11, KIAA0711 Kelch repeat- and BTB/POZ domain-containing protein 11 KBTBD11 9920 ENSG00000176595 Kbtbd11 (MGI:1922151) -chr8 2045045 2145455 8p23.3 8p23.3 603509 MYOM2 Myomesin 2 MYOM2 9172 ENSG00000036448 Myom2 (MGI:1328358) -chr8 2935352 4995034 8p23 8p23.2 608397 CSMD1, KIAA1890 Cub and Sushi multiple domains 1 CSMD1 64478 ENSG00000183117 Csmd1 (MGI:2137383) -chr8 6300000 12800000 8p23.1 222400 DIH2 Hernia, congenital diaphragmatic 2 780899 Hernia, congenital diaphragmatic 2, 222400 (2), Autosomal recessive -chr8 6300000 29000000 8p23-p21 612279 GEFSP6 Generalized epilepsy with febrile seizures plus, type 6 100190787 between D8S1706 and D8S549 Epilepsy, generalized, with febrile seizures plus, type 6, 612279 (2) -chr8 6300000 12800000 8p23 609259 MYP10 Myopia 10 553195 Myopia 10, 609259 (2), Multifactorial -chr8 6300000 12800000 8p23.1 612254 SLEB12 Systemic lupus erythematosus, susceptibility to, 12 100190928 associated with rs13277113 {Systemic lupus erythematosus, susceptibility to, 12}, 612254 (2) -chr8 6300000 19200000 8p23-p22 615174 TDH L-threonine dehydrogenase, pseudogene TDH 157739 ENSG00000154316 -chr8 6300000 12800000 8p23 606662 WS2C Waardenburg syndrome, type 2C 170594 Waardenburg syndrome, type 2C, 606662 (2) -chr8 6406614 6648507 8p23 8p23.1 607117 MCPH1 Microcephalin MCPH1 79648 ENSG00000147316 genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200 (3), Autosomal recessive Mcph1 (MGI:2443308) -chr8 6499631 6563244 8p23 8p23.1 601922 ANGPT2, ANG2, LMPHM10 Angiopoietin 2 ANGPT2 285 ENSG00000091879 close to MCPH1 Lymphatic malformation 10, 619369 (3), Autosomal dominant Angpt2 (MGI:1202890) -chr8 6708586 6761502 8p23.1 8p23.1 614796 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 AGPAT5 55326 ENSG00000155189 Agpat5 (MGI:1196345) -chr8 6870591 6877935 8p23.1 8p23.1 602056 DEFB1 Defensin, beta-1 DEFB1 1672 ENSG00000164825 Defb1 (MGI:1096878) -chr8 6924696 6926075 8p23.1 8p23.1 600471 DEFA6, DEF6 Defensin, alpha-6, Paneth cell-specific DEFA6 1671 ENSG00000164822 Defa15,Defa37,Defa16,Defa17,Defa39,Defa40,Defa41,Defa21,Defa43,Defa22,AY761185,Defa23,Defa24,Defa25,Defa26,Defa27,Defa28,Defa29,Defa9,Defa8,Defa30,Defa31,Defa10,Defa32,Defa5,Defa11,Defa34,Defa4,Defa35,Defa7,Defa13,Defa14,Defa36,Defa6,Defa3,Defa2 (MGI:3808881,MGI:3642780,MGI:99591,MGI:99590,MGI:94882,MGI:94883,MGI:99579,MGI:3648003,MGI:3646688,MGI:94881,MGI:3711900,MGI:102509,MGI:3705230,MGI:99584,MGI:99585,MGI:99582,MGI:99583,MGI:99580,MGI:3705236,MGI:99581,MGI:3708769,MGI:3630390,MGI:99588,MGI:99586,MGI:99587,MGI:3709042,MGI:3630303,MGI:1913548,MGI:5434853,MGI:3611585,MGI:3630381,MGI:3709048,MGI:3630383,MGI:3630385,MGI:1345152,MGI:3639039) -chr8 6935819 6938305 8p23 8p23.1 601157 DEFA4, DEF4, HP4 Defensin, alpha-4, corticostatin DEFA4 1669 ENSG00000164821 Defa32,Defa43,Defa4,AY761185,Defa23,Defa37,Defa39,Defa3 (MGI:99584,MGI:3709042,MGI:3630303,MGI:3705236,MGI:3611585,MGI:3630381,MGI:94883,MGI:3648003) -chr8 6977648 6980119 8p23.1 8p23.1 125220 DEFA1, DEF1, MRS Defensin, alpha-1, myeloid-related sequence DEFA1 1667 ENSG00000206047 Defa26,Defa37,Defa27,Defa28,Defa40,Defa41,Defa30,Defa32,Defa34,Defa23,Defa35,Defa24,Defa3 (MGI:3808881,MGI:3642780,MGI:3705236,MGI:3708769,MGI:3630390,MGI:94883,MGI:3646688,MGI:3709042,MGI:3630381,MGI:3711900,MGI:3709048,MGI:3630383,MGI:3705230) -chr8 7015868 7018335 8p23.1 8p23.1 604522 DEFA3, DEF3, HNP3 Defensin, alpha, 3 DEFA3 1668 ENSG00000239839 Defa15,Defa37,Defa16,Defa17,Defa40,Defa41,AY761185,Defa23,Defa24,Defa25,Defa26,Defa27,Defa28,Defa9,Defa8,Defa30,Defa31,Defa10,Defa32,Defa5,Defa11,Defa34,Defa35,Defa7,Defa13,Defa36,Defa6,Defa3,Defa2 (MGI:3808881,MGI:3642780,MGI:99591,MGI:99590,MGI:94882,MGI:94883,MGI:99579,MGI:3646688,MGI:3711900,MGI:102509,MGI:3705230,MGI:99585,MGI:99582,MGI:99583,MGI:99580,MGI:3705236,MGI:99581,MGI:3708769,MGI:3630390,MGI:99588,MGI:99586,MGI:3709042,MGI:3630303,MGI:5434853,MGI:3630381,MGI:3709048,MGI:3630383,MGI:3630385,MGI:1345152) -chr8 7055303 7056738 8p23.1 8p23.1 600472 DEFA5, DEF5 Defensin, alpha-5, Paneth cell-specific DEFA5 1670 ENSG00000164816 Defa-rs2,Defa-rs10,Defa-rs12,Defa26,Defa15,Defa16,Defa27,Defa28,Defa9,Defa40,Defa41,Defa8,Defa30,Defa10,Defa5,Defa11,Defa34,Defa4,Defa35,Defa7,Defa24,Defa13,Defa6 (MGI:99584,MGI:99585,MGI:99582,MGI:3808881,MGI:99583,MGI:3642780,MGI:99591,MGI:99580,MGI:99581,MGI:3708769,MGI:99592,MGI:3630390,MGI:99590,MGI:99579,MGI:99588,MGI:99586,MGI:3646688,MGI:102516,MGI:102514,MGI:3711900,MGI:3709048,MGI:3630383,MGI:3705230) -chr8 7255242 7260475 8p23.1 8p23.1 613051 FAM90A15P, FAM90A15 Family with sequence similarity 90, member A15, pseudogene FAM90A15P 389630 copy 1 -chr8 7262865 7268097 8p23.1 8p23.1 613042 FAM90A3P, FAM90A3 Family with sequence similarity 90, member A3, pseudogene FAM90A3P 389611 copy 2 -chr8 7278109 7283341 8p23.1 8p23.1 613049 FAM90A13P, FAM90A13 Family with sequence similarity 90, member A13, pseudogene FAM90A13P 441314 copy 4 -chr8 7285731 7290963 8p23.1 8p23.1 613043 FAM90A5P, FAM90A5 Family with sequence similarity 90, member A5, pseudogene FAM90A5P 441315 copy 5 -chr8 7293353 7298583 8p23.1 8p23.1 613054 FAM90A20P, FAM90A20 Family with sequence similarity 90, member A20, pseudogene FAM90A20P 728430 copy 6 -chr8 7428887 7430347 8p23.1 8p23.1 606611 DEFB103A, DEFB3, HBD3, HBP3 Defensin, beta 103A DEFB103B 55894 ENSG00000177243 Defb14 (MGI:2675345) -chr8 7447753 7463541 8p23-p22 8p23.1 606560 SPAG11B, HE2, EP2 Sperm-associated antigen 11B SPAG11B 10407 ENSG00000164871 Spag11b (MGI:3647173) -chr8 7556137 7559103 8p23.1 8p23.1 613044 FAM90A7P, FAM90A7 Family with sequence similarity 90, member A7, pseudogene FAM90A7P 441317 copy 8 -chr8 7713782 7719014 8p23.1 8p23.1 613050 FAM90A14P, FAM90A14 Family with sequence similarity 90, member A14, pseudogene FAM90A14P 645651 copy 12 -chr8 7721428 7726662 8p23.1 8p23.1 613052 FAM90A18P, FAM90A18 Family with sequence similarity 90, member A18, pseudogene FAM90A18P 441326 copy 13 -chr8 7736724 7741957 8p23.1 8p23.1 613045 FAM90A8P, FAM90A8 Family with sequence similarity 90, member A8, pseudogene FAM90A8P 441324 copy 15 -chr8 7752019 7757253 8p23.1 8p23.1 613053 FAM90A19P, FAM90A19 Family with sequence similarity 90, member A19, pseudogene FAM90A19P 728753 copy 17 -chr8 7759667 7764901 8p23.1 8p23.1 613046 FAM90A9P, FAM90A9 Family with sequence similarity 90, member A9, pseudogene FAM90A9P 441327 copy 18 -chr8 7769583 7771312 8p23.1 8p23.1 613047 FAM90A10P, FAM90A10 Family with sequence similarity 90, member A10, pseudogene FAM90A10P 441328 copy 19 -chr8 7894676 7896715 8p23.1 8p23.1 602215 DEFB4A, DEFB4, DEFB2 Defensin, beta-4a (formerly defensin, beta-2) DEFB4A 1673 ENSG00000171711 -chr8 8027073 8032304 8p23.1 8p23.1 613048 FAM90A12P, FAM90A12 Family with sequence similarity 90, member A12, pseudogene FAM90A12P 645879 ENSG00000254229 copy 22 -chr8 8317735 8386438 8p23.1 8p23.1 617344 PRAG1, PRAGMIN, NACK PEAK1-related kinase-activating pseudokinase 1 PRAG1 157285 ENSG00000275342 Prag1 (MGI:1196223) -chr8 8701936 8704095 8p23.1 8p23.1 609203 CLDN23 Claudin 23 CLDN23 137075 ENSG00000253958 Cldn23 (MGI:1919158) -chr8 8783353 8893629 8p23.1 8p23.1 605352 MFHAS1, MASL1 Malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats-1 MFHAS1 9258 ENSG00000147324 Malignant fibrous histiocytoma, 605352 (2) Mfhas1 (MGI:1098644) -chr8 9136254 9151585 8p23 8p23.1 610541 PPP1R3B, GL Protein phosphatase 1, regulatory subunit 3B PPP1R3B 79660 ENSG00000173281 Ppp1r3b (MGI:2177268) -chr8 9555229 9782345 8p23.1 8p23.1 603303 TNKS, TNKS1 Tankyrase TNKS 8658 ENSG00000173273 Tnks (MGI:1341087) -chr8 9903387 9903471 8p23.1 8p23.1 609327 MIR124-1, MIR124A Micro RNA 124-1 MIR124-1 406907 ENSG00000284321 Mir124a-1 (MGI:2676807) -chr8 10054223 10428890 8p23.1 8p23.1 601250 MSRA Peptide methionine sulfoxide reductase MSRA 4482 ENSG00000175806 Msra (MGI:106916) -chr8 10525483 10554165 8p23.1 8p23.1 615144 PRSS55, TSP1 Protease, serine, 55 PRSS55 203074 ENSG00000184647 Prss55 (MGI:1918287) -chr8 10606348 10655142 8p23 8p23.1 608581 RP1L1, OCMD, RP88 RP1-like protein 1 RP1L1 94137 ENSG00000183638 Occult macular dystrophy, 613587 (3), Autosomal dominant; Retinitis pigmentosa 88, 618826 (3), Autosomal recessive Rp1l1 (MGI:2384303) -chr8 10723767 10730510 8p22 8p23.1 612202 SOX7 SRY-box 7 SOX7 83595 ENSG00000171056 Sox7 (MGI:98369) -chr8 10764960 10839874 8p23 8p23.1 606505 PINX1 PIN2-interacting protein 1 PINX1 54984 ENSG00000254093 Pinx1 (MGI:1919650) -chr8 11284415 11328145 8p23-p22 8p23.1 606260 MTMR9, MTMR8 Myotubularin-related protein 9 MTMR9 66036 ENSG00000104643 Mtmr9 (MGI:2442842) -chr8 11331011 11332359 8p21.3 8p23.1 615199 SLC35G5, AMAC, AMAC1L2 Solute carrier family 35, member G5 SLC35G5 83650 ENSG00000177710 Slc35g3 (MGI:1927128) -chr8 11421464 11475908 8p23-p22 8p23.1 610085 FAM167A, C8orf13 Family with sequence similarity 167, member A FAM167A 83648 ENSG00000154319 Fam167a (MGI:3606565) -chr8 11493990 11564598 8p23-p22 8p23.1 191305 BLK, MODY11 BLK protooncogene, SRC family tyrosinase kinase BLK 640 ENSG00000136573 Maturity-onset diabetes of the young, type 11, 613375 (3), Autosomal dominant Blk (MGI:88169) -chr8 11676934 11760001 8p23.1-p22 8p23.1 600576 GATA4, ASD2, VSD1, TACHD, TOF GATA-binding protein-4 GATA4 2626 ENSG00000136574 mutations identified in 1 TACHD family Tetralogy of Fallot, 187500 (3), Autosomal dominant; Atrial septal defect 2, 607941 (3), Autosomal dominant; Ventricular septal defect 1, 614429 (3), Autosomal dominant; Atrioventricular septal defect 4, 614430 (3), Autosomal dominant; ?Testicular anomalies with or without congenital heart disease, 615542 (3), Autosomal dominant Gata4 (MGI:95664) -chr8 11769709 11787344 8p23.1 8p23.1 608933 NEIL2, NEI2 Endonuclease VIII-like 2 NEIL2 252969 ENSG00000154328 Neil2 (MGI:2686058) -chr8 11795581 11839308 8p23.1-p22 8p23.1 184420 FDFT1, DGPT, SQSD Farnesyl-diphosphate farnesyltransferase 1 (squalene synthase) FDFT1 2222 ENSG00000079459 Squalene synthase deficiency, 618156 (3), Autosomal recessive Fdft1 (MGI:102706) -chr8 11842523 11868086 8p22 8p23.1 116810 CTSB, CPSB, RECEUP Cathepsin B (regulatory element, cis-acting, enhancer upstream of CTSB, included) CTSB 1508 ENSG00000164733 KWE due to duplication upstream of CTSB that disrupts a cis-acting regulatory element Keratolytic winter erythema, 148370 (4), Autosomal dominant Ctsb (MGI:88561) -chr8 12136434 12138848 8p23.1 8p23.1 610186 USP17L2, DUB3 Ubiquitin specific peptidase 17-like family member 2 USP17L2 377630 ENSG00000223443 Usp17ld,Usp17le,Usp17la,Usp17lb,Usp17lc (MGI:3051372,MGI:107698,MGI:107699,MGI:3051498,MGI:107697) -chr8 12182105 12195435 8p23.1 8p23.1 616122 FAM86B1 Family with sequence similarity 86, member B1 FAM86B1 85002 ENSG00000186523 Eef2kmt (MGI:1917761) -chr8 12424420 12436399 8p23.1 8p23.1 616123 FAM86B2 Family with sequence similarity 86, member B2 FAM86B2 653333 ENSG00000145002 Eef2kmt (MGI:1917761) -chr8 12800000 19200000 8p22 614252 ANIB11 Aneurysm, intracranial berry, 11 100750328 max lod at D8S552 Aneurysm, intracranial berry, 11, 614252 (2) -chr8 12800000 19200000 8p22 612030 CHDS9 Coronary heart disease, susceptibility to, 9 100188877 max lod at D8S1106 {Coronary heart disease, susceptibility to, 9}, 612030 (2) -chr8 12800000 23500000 8p22-p21.3 612789 DFNB71 Deafness, autosomal recessive 71 100302513 max lod at D8S261 Deafness, autosomal recessive 71, 612789 (2), Autosomal recessive -chr8 12800000 54600000 8p22-q11 610099 MPD3 Myopathy, distal 3 780920 possible locus on 12q13-q22 Myopathy, distal, 3, 610099 (2), Autosomal dominant -chr8 12945672 13029776 8p22 8p22 615666 KIAA1456, TRM9L KIAA1456 gene TRMT9B 57604 ENSG00000250305 Trmt9b (MGI:2442328) -chr8 13083360 13604619 8p22-p21.3 8p22 604258 DLC1 DLC1 Rho GTPase activating protein DLC1 10395 ENSG00000164741 Colorectal cancer, somatic, 114500 (3) Dlc1 (MGI:1354949) -chr8 14084844 15238430 8p22 8p22 608113 SGCZ, ZSG1 Sarcoglycan, zeta SGCZ 137868 ENSG00000185053 Sgcz (MGI:2388820) -chr8 15540086 15766648 8p22 8p22 601385 TUSC3, M33, D8S1992, MRT7, MRT22 Tumor suppressor candidate 3 TUSC3 7991 ENSG00000104723 Mental retardation, autosomal recessive 7, 611093 (3), Autosomal recessive Tusc3 (MGI:1933134) -chr8 16107880 16192650 8p22 8p22 153622 MSR1, SCARA1, SRA Macrophage scavenger receptor MSR1 4481 ENSG00000038945 ~11cM distal to LPL Barrett esophagus/esophageal adenocarcinoma, 614266 (3) Msr1 (MGI:98257) -chr8 16992180 17002344 8p22-p21.3 8p22 605558 FGF20, RHDA2 Fibroblast growth factor-20 FGF20 26281 ENSG00000078579 mutation identified in 1 RHDA2 family ?Renal hypodysplasia/aplasia 2, 615721 (3), Autosomal recessive Fgf20 (MGI:1891346) -chr8 17027237 17133068 8p22 8p22 610633 MICU3, EFHA2 Mitochondrial calcium uptake protein 3 MICU3 286097 ENSG00000155970 Micu3 (MGI:1925756) -chr8 17155999 17230705 8p22 8p22 618621 ZDHHC2, DHHC2, ZNF372, REAM Zinc finger DHHC-type palmitoyltransferase 2 ZDHHC2 51201 ENSG00000104219 Zdhhc2 (MGI:1923452) -chr8 17221980 17246856 8p22-p21.3 8p22 604913 CNOT7, CAF1 CCR4-NOT transcription complex, subunit 7 CNOT7 29883 ENSG00000198791 Cnot7 (MGI:1298230) -chr8 17246902 17333454 8p23-p21 8p22 609927 VPS37A, HCRP1, SPG53 VPS37A subunit of ESCRIT-I VPS37A 137492 ENSG00000155975 Spastic paraplegia 53, autosomal recessive, 614898 (3), Autosomal recessive Vps37a (MGI:1261835) -chr8 17296127 17413352 8p22 8p22 603562 MTMR7 Myotubularin-related protein 7 MTMR7 9108 ENSG00000003987 Mtmr7 (MGI:1891693) -chr8 17494348 17570565 8p22 8p22 601872 SLC7A2, ATRC2, HCAT2 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 SLC7A2 6542 ENSG00000003989 Slc7a2 (MGI:99828) -chr8 17576432 17643143 8p22-p21.3 8p22 604584 PDGFRL, PDGRL, PRLTS Platelet-derived growth factor receptor-like PDGFRL 5157 ENSG00000104213 Hepatocellular cancer, somatic, 114550 (3); Colorectal cancer, somatic, 114500 (3) Pdgfrl (MGI:1916047) -chr8 17643793 17801520 8p22 8p22 609589 MTUS1, ATIP, KIAA1288 Microtubule-associated scaffold protein 1 MTUS1 57509 ENSG00000129422 Mtus1 (MGI:2142572) -chr8 17864379 17909982 8p22 8p22 605776 FGL1, HFREP1 Fibrinogen-like 1 FGL1 2267 ENSG00000104760 Fgl1 (MGI:102795) -chr8 17922783 18029947 8p22-p21.3 8p22 600299 PCM1, PTC4 Pericentriolar material 1 PCM1 5108 ENSG00000078674 fused with RET to form PTC4 Pcm1 (MGI:1277958) -chr8 18055991 18084960 8p22-p21.3 8p22 613468 ASAH1, AC, SMAPME N-acylsphingosine amidohydrolase (acid ceramidase) 1 ASAH1 427 ENSG00000104763 Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3), Autosomal recessive; Farber lipogranulomatosis, 228000 (3), Autosomal recessive Asah1 (MGI:1277124) -chr8 18170418 18223688 8p23.1-p21.3 8p22 108345 NAT1, AAC1 Arylamine N-acetyltransferase-1 NAT1 9 ENSG00000171428 Nat1,Nat2,Nat3 (MGI:109201,MGI:102537,MGI:97279) -chr8 18386584 18401218 8p23.1-p21.3 8p22 612182 NAT2, AAC2 Arylamine N-acetyltransferase-2 NAT2 10 ENSG00000156006 acetylation polymorphism [Acetylation, slow], 243400 (3), Autosomal recessive Nat1,Nat2,Nat3 (MGI:109201,MGI:102537,MGI:97279) -chr8 18527302 19086908 8p22 8p22 614440 PSD3, HCA67, EFA6R Pleckstrin and Sec7 domains-containing protein 3 PSD3 23362 ENSG00000156011 Psd3 (MGI:1918215) -chr8 19313692 19396217 8p22 8p21.3 614968 SH2D4A, SH2A, PPP1R38 SH2 domain-containing protein 4A SH2D4A 63898 ENSG00000104611 Sh2d4a (MGI:1919531) -chr8 19404160 19757907 8p21.3 8p21.3 616615 CSGALNACT1, SDJLABA Chondroitin sulfate N-acetylgalactosaminyltransferase 1 CSGALNACT1 55790 ENSG00000147408 Skeletal dysplasia, mild, with joint laxity and advanced bone age, 618870 (3), Autosomal recessive Csgalnact1 (MGI:2442354) -chr8 19817148 19852077 8p21.3 8p21.3 611353 INTS10, INT10 Integrator complex subunit 10 INTS10 55174 ENSG00000104613 Ints10 (MGI:1918135) -chr8 19939252 19967258 8p22 8p21.3 609708 LPL, LIPD, HDLCQ11 Lipoprotein lipase LPL 4023 ENSG00000175445 Lipoprotein lipase deficiency, 238600 (3), Autosomal recessive; [High density lipoprotein cholesterol level QTL 11], 238600 (3), Autosomal recessive; Combined hyperlipidemia, familial, 144250 (3), Autosomal dominant Lpl (MGI:96820) -chr8 20144854 20183138 8p21.3 8p21.3 193002 SLC18A1, VMAT1, VAT1, CGAT Solute carrier family 18 (vesicular monoamine), member 1 SLC18A1 6570 ENSG00000036565 Slc18a1 (MGI:106684) -chr8 20197374 20226851 8p21.3 8p21.3 606939 ATP6V1B2, ATP6B2, VPP3, DOOD, ZLS2 ATPase, H+ transporting, V1 subunit B2 ATP6V1B2 526 ENSG00000147416 Zimmermann-Laband syndrome 2, 616455 (3), Autosomal dominant; Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3), Autosomal dominant Atp6v1b2 (MGI:109618) -chr8 20246164 20303962 8p22 8p21.3 606551 LZTS1, F37, FEZ1 Leucine zipper, putative tumor suppressor 1 LZTS1 11178 ENSG00000061337 Esophageal squamous cell carcinoma, somatic, 133239 (3) Lzts1 (MGI:2684762) -chr8 21690397 21789295 8p21 8p21.3 601956 GFRA2, GDNFRB GDNF family receptor alpha-2 GFRA2 2675 ENSG00000168546 Gfra2 (MGI:1195462) -chr8 21908872 21913716 8p21.3 8p21.3 604997 DOK2, P56DOK Docking protein 2 DOK2 9046 ENSG00000147443 Dok2 (MGI:1332623) -chr8 21919661 22006584 8p21.3 8p21.3 606140 XPO7, RANBP16, KIAA0745 Exportin 7 XPO7 23039 ENSG00000130227 Xpo7 (MGI:1929705) -chr8 22023307 22036907 8p21.3 8p21.3 608073 NPM2 Nucleophosmin/nucleoplasmin family, member 2 NPM2 10361 ENSG00000158806 Npm2 (MGI:1890811) -chr8 22039707 22048808 8p21.3 8p21.3 603725 FGF17, HH20 Fibroblast growth factor 17 FGF17 8822 ENSG00000158815 Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3), Autosomal dominant Fgf17 (MGI:1202401) -chr8 22048930 22082524 8p21.1 8p21.3 125305 EPB49, DMT Erythrocyte membrane protein band 49 (dematin) DMTN 2039 ENSG00000158856 Dmtn (MGI:99670) -chr8 22106871 22110354 8p21.3 8p21.3 615791 NUDT18, MTH3 Nucleoside diphosphate-linked moiety X motif 18 NUDT18 79873 ENSG00000275074 Nudt18 (MGI:2385853) -chr8 22114418 22133383 8p21.2 8p21.3 602302 HR, AU, MUHH1 HR lysine demethylase and nuclear receptor corepressor HR 55806 ENSG00000168453 Atrichia with papular lesions, 209500 (3), Autosomal recessive; Alopecia universalis, 203655 (3), Autosomal recessive Hr (MGI:96223) -chr8 22130457 22131009 8p21.2 8p21.3 619257 HRURF, U2HR HR upstream open reading frame, U2HR HRURF 120766137 Hypotrichosis 4, 146550 (3), Autosomal dominant -chr8 22138019 22141906 8p21.3 8p21.3 609349 REEP4, C8orf20 Receptor expression-enhancing protein 4 REEP4 80346 ENSG00000168476 Reep4 (MGI:1919799) -chr8 22146829 22156805 8p21.3 8p21.3 608302 LGI3 Leucine-rich gene, glioma-inactivated, 3 LGI3 203190 ENSG00000168481 Lgi3 (MGI:2182619) -chr8 22157382 22164478 8p21 8p21.3 178620 SFTPC, SFTP2, SMDP2 Surfactant, pulmonary-associated protein C (pulmonary surfactant apoprotein-2, SP-C) SFTPC 6440 ENSG00000168484 Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3), Autosomal dominant Sftpc (MGI:109517) -chr8 22165371 22212325 8p21 8p21.3 112264 BMP1, OI13 Bone morphogenetic protein-1 BMP1 649 ENSG00000168487 1kb 3' to SFTP2 Osteogenesis imperfecta, type XIII, 614856 (3), Autosomal recessive Bmp1 (MGI:88176) -chr8 22219702 22232098 8p21.3 8p21.3 608511 PHYHIP, PAHXAP1, KIAA0273 Phytanoyl-CoA hydroxylase-interacting protein PHYHIP 9796 ENSG00000168490 Phyhip (MGI:1860417) -chr8 22244965 22245036 8p21.3 8p21.3 614112 MIR320A, MIRN320A Micro RNA 320A MIR320A 407037 ENSG00000208037 Mir320 (MGI:3619332) -chr8 22245103 22254600 8q21 8p21.3 187280 POLR3D, BN51T, TSBN51 Polymerase III, RNA, subunit D POLR3D 661 ENSG00000168495 Polr3d (MGI:1914315) -chr8 22275313 22357567 8p21.3 8p21.3 610312 PIWIL2, MILI PIWI-like 2 PIWIL2 55124 ENSG00000197181 Piwil2 (MGI:1930036) -chr8 22367277 22434128 8p21.3 8p21.3 608736 SLC39A14, ZIP14, KIAA0062, HMNDYT2, HCIN Solute carrier family 39 (zinc transporter), member 14 SLC39A14 23516 ENSG00000104635 mutation identified in 1 HCTN family ?Hyperostosis cranalis interna, 144755 (3), Autosomal dominant; Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive Slc39a14 (MGI:2384851) -chr8 22441052 22541465 Chr.8 8p21.3 114107 PPP3CC, CALNA3 Protein phosphatase-3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma) PPP3CC 5533 ENSG00000120910 Ppp3cc (MGI:107162) -chr8 22544989 22575787 8p21.3 8p21.3 610795 SORBS3, SCAM1, SH3D4 Sorbin and SH3 domains-containing 3 SORBS3 10174 ENSG00000120896 Sorbs3 (MGI:700013) -chr8 22578740 22598025 8p21.2 8p21.3 609722 PDLIM2, MYSTIQUE PDZ and LIM domain protein 2 PDLIM2 64236 ENSG00000120913 Pdlim2 (MGI:2384850) -chr8 22604739 22621513 8p21 8p21.3 607359 CCAR2, DBC1, KIAA1967 Cell division cycle and apoptosis regulator 2 CCAR2 57805 ENSG00000158941 Ccar2 (MGI:2444228) -chr8 22620417 22669147 8p21.3 8p21.3 606396 BIN3 Bridging integrator 3 BIN3 55909 ENSG00000147439 Bin3 (MGI:1929883) -chr8 22687658 22693479 8p23-p21 8p21.3 602419 EGR3 Early growth response 3 EGR3 1960 ENSG00000179388 Egr3 (MGI:1306780) -chr8 22713250 22941076 8p21.2 8p21.3 612473 PEPB4, CORK1 Phosphatidylethanolamine-binding protein 4 PEBP4 157310 ENSG00000134020 Pebp4 (MGI:1920773) -chr8 22987250 23020198 8p21.2 8p21.3 607352 RHOBTB2, DBC2, KIAA0717, DEE64 Rho-related BTB domain-containing protein 2 RHOBTB2 23221 ENSG00000008853 Developmental and epileptic encephalopathy 64, 618004 (3), Autosomal dominant Rhobtb2 (MGI:2180557) -chr8 23020132 23069030 8p22-p21 8p21.3 603612 TNFRSF10B, DR5, TRAILR2 Tumor necrosis factor receptor superfamily, member 10B TNFRSF10B 8795 ENSG00000120889 Squamous cell carcinoma, head and neck, 275355 (3), Autosomal recessive Tnfrsf10b (MGI:1341090) -chr8 23102920 23117444 8p22-p21 8p21.3 603613 TNFRSF10C, DCR1, TRAILR3, TRID Tumor necrosis factor receptor superfamily, member 10C TNFRSF10C 8794 ENSG00000173535 Tnfrsf23,Tnfrsf22,Tnfrsf26,Tnfrsf10b (MGI:1341090,MGI:1930270,MGI:2651928,MGI:1930269) -chr8 23135587 23164026 8p21 8p21.3 603614 TNFRSF10D, DCR2, TRAILR4 Tumor necrosis factor receptor superfamily, member 10D TNFRSF10D 8793 ENSG00000173530 Tnfrsf10b (MGI:1341090) -chr8 23190451 23225101 8p21 8p21.3 603611 TNFRSF10A, DR4, TRAILR1, APO2 Tumor necrosis factor receptor superfamily, member 10A TNFRSF10A 8797 ENSG00000104689 Tnfrsf23,Tnfrsf22,Tnfrsf26,Tnfrsf10b (MGI:1341090,MGI:1930270,MGI:2651928,MGI:1930269) -chr8 23243636 23261999 8p21.3 8p21.3 611130 CHMP7 Charged multivesicular body protein 7 CHMP7 91782 ENSG00000147457 Chmp7 (MGI:1913922) -chr8 23296896 23404119 8p21.3-p21.2 8p21.3 606663 LOXL2 Lysyl oxidase-like 2 LOXL2 4017 ENSG00000134013 Loxl2,Gm21451 (MGI:2137913,MGI:5434806) -chr8 23429161 23457646 8p21.3 8p21.3 607577 ENTPD4, LYSAL1, LAP70, KIAA0392 Ectonucleoside triphosphate diphosphohydrolase 4 ENTPD4 9583 ENSG00000197217 Entpd4b (MGI:5435040) -chr8 23528955 23575462 8p21 8p21.2 610387 SLC25A37, MFRN, MFRN1 Solute carrier family 25 (mitochondrial iron carrier), member 37 SLC25A37 51312 ENSG00000147454 Slc25a37,Gm16867 (MGI:4439791,MGI:1914962) -chr8 23678692 23682937 8p21 8p21.2 602041 NKX3-1, NKX3A, BAPX2 NK3 homeo box 1 NKX3-1 4824 ENSG00000167034 Nkx3-1 (MGI:97352) -chr8 23701739 23706755 8p21 8p21.2 611770 NKX2-6, CSX2, CTHM NK2, Drosophila, homolog of, 6 NKX2-6 137814 ENSG00000180053 Persistent truncus arteriosus, 217095 (3); Conotruncal heart malformations, 217095 (3) Nkx2-6 (MGI:97351) -chr8 23841928 23854805 8p21-p11.2 8p21.2 601185 STC1, STC Stanniocalcin 1 STC1 6781 ENSG00000159167 Stc1 (MGI:109131) -chr8 24294039 24359013 8p12 8p21.2 606188 ADAM28, MDCL ADAM metallopeptidase domain 28 ADAM28 10863 ENSG00000042980 Adam28 (MGI:105988) -chr8 24384284 24406012 8p12 8p21.2 606393 ADAMDEC1, DECYSIN ADAM-like decysin 1 ADAMDEC1 27299 ENSG00000134028 Adamdec1 (MGI:1917650) -chr8 24441025 24509564 8p12 8p21.2 607310 ADAM7 ADAM metallopeptidase domain 7 ADAM7 8756 ENSG00000069206 Adam7 (MGI:107247) -chr8 24913760 24919092 8p21 8p21.2 162250 NEFM, NEF3, NFM Neurofilament protein, medium polypeptide NEFM 4741 ENSG00000104722 Nefm (MGI:97314) -chr8 24950954 24956611 8p21 8p21.2 162280 NEFL, CMT2E, CMT1F, CMTDIG Neurofilament, light polypeptide NEFL 4747 ENSG00000277586 Charcot-Marie-Tooth disease, type 1F, 607734 (3), Autosomal dominant, Autosomal recessive; Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2E, 607684 (3), Autosomal dominant Nefl (MGI:97313) -chr8 25184688 25415710 8p21.2 8p21.2 616904 DOCK5 Dedicator of cytokinesis 5 DOCK5 80005 ENSG00000147459 Dock5 (MGI:2652871) -chr8 25419257 25425039 8p21-p11.2 8p21.2 152760 GNRH1, LNRH, HH12 Gonadotropin-releasing hormone-1 (luteinizing-releasing hormone) GNRH1 2796 ENSG00000147437 mutation identified in 1 HH12 family ?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3), Autosomal recessive Gnrh1 (MGI:95789) -chr8 25424356 25458467 8p21.2 8p21.2 617265 KCTD9, BTBD27 Potassium channel tetramerization domain-containing protein 9 KCTD9 54793 ENSG00000104756 Kctd9 (MGI:2145579) -chr8 25458556 25511307 8p21.2 8p21.2 618785 CDCA2, PPP1R81 Cell division cycle-associated protein 2 CDCA2 157313 ENSG00000184661 Cdca2 (MGI:1919787) -chr8 25841724 26045412 8p21.2 8p21.2 609934 EBF2 Early B-cell factor 2 EBF2 64641 ENSG00000221818 Ebf2 (MGI:894332) -chr8 26291507 26372679 8p21.2 8p21.2 604941 PPP2R2A Protein phosphatase 2, regulatory subunit B, alpha PPP2R2A 5520 ENSG00000221914 Ppp2r2a (MGI:1919228) -chr8 26383053 26413126 8p21 8p21.2 605368 BNIP3L, NIX BCL2/adenovirus E1B 19-kD protein-interacting protein 3-like BNIP3L 665 ENSG00000104765 Bnip3l (MGI:1332659) -chr8 26504694 26513871 8p21.2 8p21.2 603970 PNMA2, MA2, MM2 Paraneoplastic MA antigen 2 PNMA2 10687 ENSG00000240694 Pnma2 (MGI:2444129) -chr8 26514030 26658174 8p21 8p21.2 602463 DPYSL2, DRP2, CRMP2 Dihydropyrimidinase-like 2 DPYSL2 1808 ENSG00000092964 Dpysl2 (MGI:1349763) -chr8 26738112 26870993 8p21 8p21.2 104221 ADRA1C Adrenergic, alpha-1C-, receptor ADRA1A 148 ENSG00000120907 .03cM from NEFL Adra1a (MGI:104773) -chr8 27284885 27311271 8p21.1 8p21.2 617007 TRIM35, MAIR, HLS5, KIAA1098 Tripartite motif-containing protein 35 TRIM35 23087 ENSG00000104228 Trim35 (MGI:1914104) -chr8 27311477 27459390 8p22-p11.2 8p21.2 601212 PTK2B, FAK2, PYK2 Protein tyrosine kinase-2, beta (focal adhesion kinase 2) PTK2B 2185 ENSG00000120899 Ptk2b (MGI:104908) -chr8 27459755 27479284 8p21 8p21.2 118502 CHRNA2 Cholinergic receptor, nicotinic, alpha polypeptide-2 CHRNA2 1135 ENSG00000120903 Epilepsy, nocturnal frontal lobe, type 4, 610353 (3), Autosomal dominant Chrna2 (MGI:87886) -chr8 27491142 27597558 8p21-p12 8p21.2-p21.1 132811 EPHX2 Epoxide hydrolase 2, cytoplasmic EPHX2 2053 ENSG00000120915 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3), Autosomal dominant, Autosomal recessive Ephx2 (MGI:99500) -chr8 27500000 29000000 8p21.1 240400 GULOP, GULO Gulonolactone (L-) oxidase pseudogene GULOP 2989 Scurvy (3) -chr8 27500000 29000000 8p21 603013 SCZD6 Schizophrenia susceptibility locus, chromosome 8p-related 8400 ?neuregulin 1 {Schizophrenia}, 181500 (2), Autosomal dominant -chr8 27500000 72000000 8p21.1-q13.3 611945 SPG37 Spastic paraplegia 37 100049159 max lod at D8S601 Spastic paraplegia 37, autosomal dominant, 611945 (2), Autosomal dominant -chr8 27596916 27614699 8p21-p12 8p21.1 185430 CLU, CLI, SGP2, TRPM2 Clusterin (complement lysis inhibitor, SP-40,40; sulfated glycoprotein 2; testosterone-repressed prostate message-2; apolipoprotein J) CLU 1191 ENSG00000120885 Clu (MGI:88423) -chr8 27633664 27736593 8p21 8p21.1 602728 SCARA3, MSLR1, CSR Scavenger receptor class A, member 3 SCARA3 51435 ENSG00000168077 Scara3 (MGI:2444418) -chr8 27733315 27772639 8p21.1 8p21.1 619100 CCDC25 Coiled-coil domain-containing protein 25 CCDC25 55246 ENSG00000147419 Ccdc25 (MGI:1914429) -chr8 27771948 27812429 8p21.1 8p21.1 609353 ESCO2, RBS, JHS Establishment of sister chromatid cohesion N-acetyltransferase 2 ESCO2 157570 ENSG00000171320 Juberg-Hayward syndrome, 216100 (3), Autosomal recessive; Roberts-SC phocomelia syndrome, 268300 (3), Autosomal recessive Esco2 (MGI:1919238) -chr8 27809623 27837816 8p21.1 8p21.1 611210 PBK, TOPK PDZ-binding kinase PBK 55872 ENSG00000168078 Pbk (MGI:1289156) -chr8 27869882 27992672 8p21.1 8p21.1 611306 SCARA5 Scavenger receptor class A, member 5 SCARA5 286133 ENSG00000168079 Scara5 (MGI:1918395) -chr8 28021963 28084067 8p21.1 8p21.1 619088 NUGGC, SLIPGC Nuclear GTPase, germinal center-associated NUGGC 389643 ENSG00000189233 Nuggc (MGI:2685446) -chr8 28090231 28191152 8p21.1 8p21.1 612722 ELP3, KAT9 Elongation protein 3, S. cerevisiae, homolog of ELP3 55140 ENSG00000134014 Elp3 (MGI:1921445) -chr8 28316978 28343354 8p21 8p21.1 601459 PNOC, PPNOC Prepronociceptin PNOC 5368 ENSG00000168081 Pnoc (MGI:105308) -chr8 28345589 28386459 8p21.1 8p21.1 609494 ZNF395, PBF, HDBP2 Zinc finger protein 395 ZNF395 55893 ENSG00000186918 Zfp395 (MGI:2682318) -chr8 28428411 28490228 8p21.1 8p21.1 608519 FBXO16, FBX16 F-box only protein 16 FBXO16 157574 ENSG00000214050 ?8p12 Fbxo16 (MGI:1354706) -chr8 28494211 28574267 8p21 8p21.1 606143 FZD3 Frizzled class receptor 3 FZD3 7976 ENSG00000104290 Fzd3 (MGI:108476) -chr8 28607735 28755598 8p21 8p21.1 605744 EXTL3, EXTR1, ISDNA Exostosin-like 3 EXTL3 2137 ENSG00000012232 Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive Extl3 (MGI:1860765) -chr8 28767660 28890225 8p21.1 8p21.1 611352 INTS9, INT9, RC74 Integrator complex subunit 9 INTS9 55756 ENSG00000104299 Ints9 (MGI:1098533) -chr8 28890393 29064944 8p21.1-p12 8p21-p12 618610 HMBOX1, TAH1, PBHNF Homeobox-containing protein 1 HMBOX1 79618 ENSG00000147421 Hmbox1 (MGI:2445066) -chr8 29000000 105100000 8p12-q22 611073 AD12 Alzheimer disease 12 100188830 max lod at D8S1119 {Alzheimer disease 12}, 611073 (2) -chr8 29000000 36700000 8p12 612348 THPH9 Thrombophilia due to decreased release of tissue plasminogen activator ?Thrombophilia due to decreased release of tissue plasminogen (1) -chr8 29067277 29263384 8p12 8p12 607350 KIF13B, GAKIN, KIAA0639 Kinesin family member 13B KIF13B 23303 ENSG00000197892 Kif13b (MGI:1098265) -chr8 29333063 29350683 8p12-p11 8p12 602747 DUSP4, MKP2, HVH2 Dual-specificity phosphatase-4 (MAP kinase phosphatase-2) DUSP4 1846 ENSG00000120875 Dusp4 (MGI:2442191) -chr8 30063002 30083207 8p12 8p12 614768 TMEM66, SARAF Transmembrane protein 66 SARAF 51669 ENSG00000133872 Saraf (MGI:1915137) -chr8 30095407 30138347 8p21.2-p21.1 8p12 607338 LEPROTL1 Leptin receptor overlapping transcript-like 1 LEPROTL1 23484 ENSG00000104660 Leprotl1 (MGI:1915442) -chr8 30131453 30148767 8p12 8p12 611940 MBOAT4, GOAT Membrane-bound O-acetyltransferase domain-containing 4 MBOAT4 619373 ENSG00000177669 Mboat4 (MGI:2685017) -chr8 30156368 30183638 8p12-p11 8p12 612963 DCTN6, WS3, P27 Dynactin 6 DCTN6 10671 ENSG00000104671 Dctn6 (MGI:1343154) -chr8 30384540 30572260 8p12 8p12 601558 RBPMS RNA-binding protein, mRNA-processing factor RBPMS 11030 ENSG00000157110 Rbpms (MGI:1334446) -chr8 30578317 30658240 8p21-p12 8p12 189964 GTF2E2, TTD6 General transcription factor IIE, polypeptide 2, beta subunit, 34kD GTF2E2 2961 ENSG00000197265 Trichothiodystrophy 6, nonphotosensitive, 616943 (3), Autosomal recessive Gtf2e2 (MGI:1915403) -chr8 30678065 30727845 8p21.1 8p12 138300 GSR, GSRD Glutathione reductase GSR 2936 ENSG00000104687 Hemolytic anemia due to glutathione reductase deficiency, 618660 (3), Autosomal recessive Gsr (MGI:95804) -chr8 30729130 30767005 8p12-p11.2 8p12 602155 UBXN8, D8S2298E, REP8 UBX domain protein 8 UBXN8 7993 ENSG00000104691 Ubxn8 (MGI:1337129) -chr8 30785615 30812817 8p12-p11.2 8p12 176916 PPP2CB Protein phosphatase-2 (formerly 2A), catalytic subunit, beta isoform PPP2CB 5516 ENSG00000104695 pseudogene on 16 Ppp2cb (MGI:1321161) -chr8 30831543 30913007 8p12 8p12 605795 TEX15, SPGF25 Testis-expressed gene 15 TEX15 56154 ENSG00000133863 Spermatogenic failure 25, 617960 (3), Autosomal recessive Tex15 (MGI:1934816) -chr8 30995801 31033355 8p12 8p12 618041 PURG, PURGA, PURGB Purine-rich element-binding protein G PURG 29942 ENSG00000172733 Purg (MGI:1922279) -chr8 31033748 31176137 8p12-p11.2 8p12 604611 RECQL2, RECQ3, WRN DNA helicase, RecQ-like 2 WRN 7486 ENSG00000165392 Werner syndrome, 277700 (3), Autosomal recessive Wrn (MGI:109635) -chr8 31639244 32774045 8p22-p11 8p12 142445 NRG1, HGL, HRGA, ARIA Neuregulin 1 (heregulin, alpha, 45kD; ERBB2 p185-activator) NRG1 3084 ENSG00000157168 {?Schizophrenia, susceptibility to}, 603013 (1) Nrg1 (MGI:96083) -chr8 33308101 33473145 8p12 8p12 616931 FUT10, FUCTX Fucosyltransferase 10 FUT10 84750 ENSG00000172728 Fut10 (MGI:2384748) -chr8 33498721 33513134 8p12 8p12 614426 TTI2, C8orf41, MRT39 TELO2-interacting protein 2 TTI2 80185 ENSG00000129696 Mental retardation, autosomal recessive 39, 615541 (3), Autosomal recessive Tti2 (MGI:2384576) -chr8 33513474 33513577 8p12 8p12 616664 SNORD13 Small nucleolar RNA, C/D box, 13 SNORD13 692084 ENSG00000239039 -chr8 33591329 33600022 8p12 8p12 618368 DUSP26, MKP8, LDP4, NEAP Dual-specificity phosphatase 26 DUSP26 78986 ENSG00000133878 Dusp26 (MGI:1914209) -chr8 35235474 35796549 8p12 8p12 616466 UNC5D, UNC5H4 unc-5 netrin receptor D UNC5D 137970 ENSG00000156687 Unc5d (MGI:2389364) -chr8 36784373 36936124 8p11.23 8p11.23 615215 KCNU1, SLO3 Potassium channel, subfamily U, member 1 KCNU1 157855 ENSG00000215262 Kcnu1 (MGI:1202300) -chr8 37695781 37700018 8p11.23 8p11.23 617045 ZNF703, ZEPPO1, NLZ1 Zinc finger protein 703 ZNF703 80139 ENSG00000183779 Zfp703 (MGI:2662729) -chr8 37736626 37758421 8p11.2 8p11.23 611605 ERLIN2, SPFH2, C8orf2, SPG18 Endoplasmic reticulum lipid raft-associated protein 2 ERLIN2 11160 ENSG00000147475 Spastic paraplegia 18, autosomal recessive, 611225 (3), Autosomal recessive Erlin2 (MGI:2387215) -chr8 37762545 37779767 8p11.2 8p11.23 604436 PLPBP, PROSC, EPVB6D Pyridoxal phosphate-binding protein PLPBP 11212 ENSG00000147471 Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive Plpbp (MGI:1891207) -chr8 37796882 37844895 8p12 8p11.23 606823 ADGRA2, GPR124, TEM5, KIAA1531 Adhesion G protein-coupled receptor A2 ADGRA2 25960 ENSG00000020181 Adgra2 (MGI:1925810) -chr8 37843267 37849860 8p11.23 8p11.23 607013 BRF2, BRFU, TFIIIB50 BRF2 subunit of RNA polymerase III transcription initiation factor BRF2 55290 ENSG00000104221 Brf2 (MGI:1913903) -chr8 37858617 37899496 8p11.22 8p11.23 608737 RAB11FIP1, RCP RAB11 family-interacting protein 1 RAB11FIP1 80223 ENSG00000156675 Rab11fip1 (MGI:1923017) -chr8 37962989 37966598 8p12-p11.2 8p11.23 109691 ADRB3 Adrenergic, beta-3-, receptor ADRB3 155 ENSG00000188778 {Obesity, susceptibility to}, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive Adrb3 (MGI:87939) -chr8 38030533 38060364 8p12 8p11.23 602223 EIF4EBP1, 4EBP1 Eukaryotic translation initiation factor-4E binding protein-1 EIF4EBP1 1978 ENSG00000187840 Eif4ebp1 (MGI:103267) -chr8 38104964 38140079 8p11.2 8p11.23 604782 ASH2L, ASH2L2, ASH2L1 ASH2, Drosophila, homolog of ASH2L 9070 ENSG00000129691 Ash2l (MGI:1344416) -chr8 38142699 38150951 8p11.2 8p11.23 600617 STAR Steroidogenic acute regulatory protein STAR 6770 ENSG00000147465 Lipoid adrenal hyperplasia, 201710 (3), Autosomal recessive Star (MGI:102760) -chr8 38163320 38176729 8p11.23 8p11.23 607281 LSM1, CASM LSM1 homolog, mRNA degradation-associated LSM1 27257 ENSG00000175324 Lsm1 (MGI:1914457) -chr8 38176854 38213300 8p11.23 8p11.23 603884 BAG4, SODD BAG cochaperone 4 BAG4 9530 ENSG00000156735 Bag4 (MGI:1914634) -chr8 38231584 38273921 8p11.23 8p11.23 615003 DDHD2, KIAA0725, SPG54 DDHD domain-containing protein 2 DDHD2 23259 ENSG00000085788 Spastic paraplegia 54, autosomal recessive, 615033 (3), Autosomal recessive Ddhd2 (MGI:1919358) -chr8 38261789 38269434 8p11.23 8p11.23 610626 PLPP5, PPAPDC1B, HTPAP Phospholipid phosphatase 5 PLPP5 84513 ENSG00000147535 Plpp5 (MGI:1919160) -chr8 38269703 38382270 8p12 8p11.23 607083 NSD3, WHSC1L1 Nuclear receptor-binding SET domain protein 3 NSD3 54904 ENSG00000147548 pseudogene on 17q21; fusion partner with NUP98 in AML Nsd3 (MGI:2142581) -chr8 38411142 38468634 8p11.2-p11.1 8p11.23 136350 FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2) FGFR1 2260 ENSG00000077782 fused with BCR, CEP1, FOP, FIM in hematologic malignancies Pfeiffer syndrome, 101600 (3), Autosomal dominant; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3), Autosomal dominant; Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; Hartsfield syndrome, 615465 (3), Autosomal dominant; Trigonocephaly 1, 190440 (3), Autosomal dominant; Osteoglophonic dysplasia, 166250 (3), Autosomal dominant; Encephalocraniocutaneous lipomatosis, somatic mosaic, 613001 (3) Fgfr1 (MGI:95522) -chr8 38728204 38853027 8p11 8p11.22 605301 TACC1 Transforming, acidic, coiled-coil-containing protein-1 TACC1 6867 ENSG00000147526 Tacc1 (MGI:2443510) -chr8 38901345 38973911 Chr.8 8p11.22 607773 PLEKHA2, TAPP2 Pleckstrin homology domain-containing protein, family A, member 2 PLEKHA2 59339 ENSG00000169499 Plekha2 (MGI:1928144) -chr8 38974148 38988662 8p11.23 8p11.22 610700 HTRA4 HTRA serine peptidase 4 HTRA4 203100 ENSG00000169495 Htra4 (MGI:3036260) -chr8 38988807 38997138 8p11.22 8p11.22 610081 TM2D2, BLP1 TM2 domain-containing protein 2 TM2D2 83877 ENSG00000169490 Tm2d2 (MGI:1916992) -chr8 38996766 39105260 8p11.23 8p11.22 602713 ADAM9, MDC9, MCMP, CORD9 ADAM metallopeptidase domain 9 ADAM9 8754 ENSG00000168615 Cone-rod dystrophy 9, 612775 (3), Autosomal recessive Adam9 (MGI:105376) -chr8 39107528 39284916 8q11 8p11.22 618602 ADAM32 ADAM metallopeptidase domain 32 ADAM32 203102 ENSG00000197140 Adam32 (MGI:2653822) -chr8 39584567 39730064 8p11.22 8p11.22 619495 ADAM18, TMDCIII ADAM metallopeptidase domain-containing protein 18 ADAM18 8749 ENSG00000168619 -chr8 39743734 39838226 8p11.2 8p11.22 601533 ADAM2, FTNB, PH30, CRYN1, CRYN2 ADAM metallopeptidase domain 2 (fertilin, beta) ADAM2 2515 ENSG00000104755 Adam2 (MGI:1340894) -chr8 39913890 39928789 8p12-p11 8p11.21 147435 IDO1, INDO, IDO Indoleamine 2,3-dioxygenase IDO1 3620 ENSG00000131203 Ido1 (MGI:96416) -chr8 39934650 40016391 8p12 8p11.21 612129 IDO2, INDOL1 Indoleamine 2,3-dioxygenase 2 IDO2 169355 ENSG00000188676 Ido2 (MGI:2142489) -chr8 40153481 40155309 8p11.2 8p11.21 607702 TCIM, C8orf4 Transcriptional and immune response regulator TCIM 56892 ENSG00000176907 Tcim (MGI:1916318) -chr8 41261961 41309472 8p12-p11.1 8p11.21 604156 SFRP1, FRP, SARP2 Secreted frizzled-related protein 1 SFRP1 6422 ENSG00000104332 Sfrp1 (MGI:892014) -chr8 41490395 41510979 8p11.21 8p11.21 609453 GOLGA7, GCP16 Golgin A7 GOLGA7 51125 ENSG00000147533 Golga7 (MGI:1931029) -chr8 41529204 41545029 8p11.21 8p11.21 610611 GINS4, SLD5 GINS complex subunit 4 GINS4 84296 ENSG00000147536 Gins4 (MGI:1923847) -chr8 41578189 41625000 8p11.21 8p11.21 608143 AGPAT6, LPAATZ 1-acylglycerol-3-phosphate O-acyltransferase 6 GPAT4 137964 ENSG00000158669 Gpat4 (MGI:2142716) -chr8 41645176 41650816 8p11.2 8p11.21 610772 NKX6-3, NKX6.3 NK6, Drosophila, homolog of NKX6-3 157848 ENSG00000165066 Nkx6-3 (MGI:1921811) -chr8 41653224 41896740 8p11.2 8p11.21 612641 ANK1, SPH1 Ankyrin-1, erythrocytic ANK1 286 ENSG00000029534 Spherocytosis, type 1, 182900 (3), Autosomal dominant, Autosomal recessive Ank1 (MGI:88024) -chr8 41929478 42051987 8p11 8p11.21 601408 KAT6A, MYST3, MOZ, ZNF220, ARTHS K(lysine) acetyltransferase 6A KAT6A 7994 ENSG00000083168 Arboleda-Tham syndrome, 616268 (3), Autosomal dominant Kat6a (MGI:2442415) -chr8 42153034 42171182 8p11.2 8p11.21 610469 AP3M2, CLA20 Adaptor-related protein complex 3, mu-2 subunit AP3M2 10947 ENSG00000070718 Ap3m2 (MGI:1929214) -chr8 42174717 42207564 8p12 8p11.21 173370 PLAT, TPA Plasminogen activator, tissue type PLAT 5327 ENSG00000104368 Thrombophilia, familial, due to decreased release of PLAT, 612348 (1); Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1) Plat (MGI:97610) -chr8 42270726 42332459 8p11.2 8p11.21 603258 IKBKB, NFKBIKB, IMD15B, IMD15A Inhibitor of nuclear factor kappa-B kinase, subunit beta IKBKB 3551 ENSG00000104365 Immunodeficiency 15B, 615592 (3), Autosomal recessive; Immunodeficiency 15A, 618204 (3), Autosomal dominant Ikbkb (MGI:1338071) -chr8 42338451 42371809 8p11.2 8p11.21 174760 POLB Polymerase (DNA directed), beta POLB 5423 ENSG00000070501 Polb (MGI:97740) -chr8 42373193 42391321 8p11.2-p11.1 8p11.21 605417 DKK4 Dickkopf WNT signaling pathway inhibitor 4 DKK4 27121 ENSG00000104371 Dkk4 (MGI:2385299) -chr8 42391623 42405936 8p11.2 8p11.21 610029 VDAC3 Voltage-dependent anion channel 3 VDAC3 7419 ENSG00000078668 Vdac3 (MGI:106922) -chr8 42416474 42542142 8p11.21 8p11.21 158378 SLC20A2, MLVAR, GLVR2, IBGC1, IBGC2 Solute carrier family 20, phosphate transporter, member 2 SLC20A2 6575 ENSG00000168575 Basal ganglia calcification, idiopathic, 1, 213600 (3), Autosomal dominant Slc20a2 (MGI:97851) -chr8 42697365 42737406 8p11.2 8p11.21 118508 CHRNB3 Cholinergic receptor, nicotinic, beta polypeptide-3 CHRNB3 1142 ENSG00000147432 Chrnb3 (MGI:106212) -chr8 42752619 42768785 8p11.21 8p11.21 606888 CHRNA6 Cholinergic receptor, neuronal nicotinic, alpha polypeptide 6 CHRNA6 8973 ENSG00000147434 Chrna6 (MGI:106213) -chr8 42836673 42843324 8p11.21 8p11.21 609520 THAP1, DYT6 THAP domain-containing protein 1 THAP1 55145 ENSG00000131931 Dystonia 6, torsion, 602629 (3), Autosomal dominant Thap1 (MGI:1921004) -chr8 42849636 42897293 8p11.2 8p11.21 614649 RNF170, SNAX1 RING finger protein 170 RNF170 81790 ENSG00000120925 Ataxia, sensory, 1, autosomal dominant, 608984 (3), Autosomal dominant Rnf170 (MGI:1924983) -chr8 42896977 43030534 8p11.21 8p11.21 607825 HOOK3, HK3 Hook, Drosophila, homolog of, 3 HOOK3 84376 ENSG00000168172 Hook3 (MGI:2443554) -chr8 43056322 43085784 8p22-q11 8p11.21 134635 FNTA Farnesyltransferase, CAAX box, alpha FNTA 2339 ENSG00000168522 related FNTAL1 on 11, FNTAL2 on 13 Fnta (MGI:104683) -chr8 43093514 43123433 8p11 8p11.21 615247 POMK, SGK196, MDDGA12, MDDGC12 Protein-O-mannose kinase POMK 84197 ENSG00000185900 mutation in 1 MDDGC12 family has been reported ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3), Autosomal recessive Pomk (MGI:1921903) -chr8 43140448 43202854 8p11.1 8p11.2-p11.1 610453 HGSNAT, TMEM76, MPS3C, RP73 Heparan-alpha-glucosaminide N-acetyltransferase HGSNAT 138050 ENSG00000165102 Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3), Autosomal recessive; Retinitis pigmentosa 73, 616544 (3), Autosomal recessive Hgsnat (MGI:1196297) -chr8 43200000 45200000 8p11 613523 SCLL Chromosome 8p11 myeloproliferative syndrome (stem cell leukemia/lymphoma) translocation of FGFR1 (8p11) and various partners Chromosome 8p11 myeloproliferative syndrome, 613523 (4) -chr8 43292369 43365174 8p11.1 8p11.1 608915 POTEA, POTE8 POTE ankyrin domain family, member A POTEA 340441 ENSG00000188877 Potegl,Potea (MGI:1918231,MGI:1914825) -chr8 45200000 145138636 8q 600668 CCAL1 Chondrocalcinosis 1 882 Chondrocalcinosis with early-onset osteoarthritis, 600668 (2), Autosomal dominant -chr8 45200000 145138636 8q 606789 HBFQTL4 Fetal hemoglobin quantitative trait locus 4 171515 Fetal hemoglobin quantitative trait locus 4, 606789 (2) -chr8 45200000 72000000 8q11.1-q13.3 128700 PAFC Preauricular fistulae, congenital 404715 between D8S532 and D8S279 ?Preauricular fistulae, congenital, 128700 (2), Autosomal dominant -chr8 46840885 46855784 8q11.2 8q11.1 609543 LINC00293, BEYLA Long intergenic noncoding RNA 293 LINC00293 497634 ENSG00000253314 -chr8 47260877 47736305 8q11.21 8q11.21 615384 SPIDR, KIAA0146 Scaffolding protein involved in DNA repair SPIDR 23514 ENSG00000164808 Spidr (MGI:1924834) -chr8 47736912 47738163 8p11.2-p11.1 8q11.21 116898 CEBPD CCAAT/enhancer-binding protein (C/EBP), delta CEBPD 1052 ENSG00000221869 earlier mapped to 8q11 Cebpd (MGI:103573) -chr8 47773110 47960135 8q11 8q11.21 600899 PRKDC, HYRC1, DNPK1, IMD26 Protein kinase, DNA-activated, catalytic polypeptide (hyperradiosensitivity of murine SCID mutation, complementing-1) PRKDC 5591 ENSG00000253729 Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3), Autosomal recessive Prkdc (MGI:104779) -chr8 47960940 47978159 8q11.2 8q11.21 602638 MCM4, NKGCD, NKCD, IMD54 Minichromosome maintenance deficient, S. cerevisiae, homolog of, 4 MCM4 4173 ENSG00000104738 Immunodeficiency 54, 609981 (3), Autosomal recessive Mcm4 (MGI:103199) -chr8 47997526 48064707 8q11.21 8q11.21 603001 UBE2V2, UEV2, DDVIT1, EDPF1, MMS2 Ubiquitin-conjugating enzyme E2 variant 2 UBE2V2 7336 ENSG00000169139 Gm6565,Ube2v2 (MGI:3644755,MGI:1917870) -chr8 48917597 48921428 8q11 8q11.21 602150 SNAI2, SLUG, WS2D snail, Drosophila, homolog of, 2 (Neural crest transcription factor SLUG) SNAI2 6591 ENSG00000019549 Waardenburg syndrome, type 2D, 608890 (3), Autosomal recessive; Piebaldism, 172800 (3), Autosomal dominant Snai2 (MGI:1096393) -chr8 49909795 50796691 8q11 8q11.21 608714 SNTG1, SYN4 Syntrophin, gamma-1 SNTG1 54212 ENSG00000147481 implicated in idiopathic scoliosis Sntg1 (MGI:1918346) -chr8 51319574 51809444 8q11 8q11.22-q11.23 615904 PXDNL, PMR1, VPO2 Peroxidasin, Drosophila, homolog-like PXDNL 137902 ENSG00000147485 -chr8 51700000 69600000 8q11.2-q13.2 609197 GCCD3, FGD3, GCCD2 Glucocorticoid deficiency 3 619477 between D8S285 and D8S1718 Glucocorticoid deficiency 3, 609197 (2), Autosomal recessive -chr8 52110835 52409878 8q11.2 8q11.23 617155 ST18, ZNF387, KIAA0535 Suppression of tumorigenicity 18 ST18 9705 ENSG00000147488 St18 (MGI:2446700) -chr8 52622457 52714465 8q11 8q11.23 606837 RB1CC1, CC1, KIAA0203 RB1-inducible coiled-coil 1 RB1CC1 9821 ENSG00000023287 Breast cancer, somatic, 114480 (3) Rb1cc1 (MGI:1341850) -chr8 52939181 52943733 8q11.23 8q11.23 600730 NPBWR1, GPR7 Neuropeptides B and W receptor 1 NPBWR1 2831 ENSG00000288611 previously assigned to 10q11.2-q21.1 by FISH Npbwr1 (MGI:891989) -chr8 53225723 53251636 8q11.2 8q11.23 165196 OPRK1 Opiate receptor, kappa-1 OPRK1 4986 ENSG00000082556 Oprk1 (MGI:97439) -chr8 53715542 53843244 8q11.23 8q11.23 608861 ATP6V1H, NBP1, VMA13 ATPase, H+ transporting V1, subunit H ATP6V1H 51606 ENSG00000047249 Atp6v1h (MGI:1914864) -chr8 53966555 54022447 8q11.23 8q11.23 601425 TCEA1, TF2S, GTF2S Transcription elongation factor A, SII, 1 TCEA1 6917 ENSG00000187735 previously mapped to 3p22-p21.3 Tcea1 (MGI:1196624) -chr8 54046366 54101996 Chr.8 8q11.23 605599 LYPLA1 Lysophospholipase I LYPLA1 10434 ENSG00000120992 Lypla1 (MGI:1344588) -chr8 54135223 54148513 8q11.2-q13 8q11.23 611828 MRPL15 Mitochondrial ribosomal protein L15 MRPL15 29088 ENSG00000137547 Mrpl15 (MGI:1351639) -chr8 54457934 54460891 8q12-q13 8q11.23 610928 SOX17, VUR3 SRY-box 17 SOX17 64321 ENSG00000164736 Vesicoureteral reflux 3, 613674 (3), Autosomal dominant Sox17 (MGI:107543) -chr8 54509447 54871719 8q11-q13 8q11.2-q12.1 603937 RP1, ORP1 RP1 axonemal microtubule-associated protein RP1 6101 ENSG00000104237 Retinitis pigmentosa 1, 180100 (3), Autosomal dominant, Autosomal recessive Rp1 (MGI:1341105) -chr8 54600000 60600000 8q12.1 612587 ANIB10 Aneurysm, intracranial berry, 10 100271689 associated with rs10958409 {Aneurysm, intracranial berry, 10}, 612587 (2) -chr8 55773445 55826444 8q11 8q12.1 606461 TGS1, NCOA6IP, PIMT Trimethylguanosine synthase, S. cerevisiae, homolog of TGS1 96764 ENSG00000137574 Tgs1 (MGI:2151797) -chr8 55876040 56014168 8q13-qter 8q12.1 165120 LYN Yamaguchi sarcoma viral (v-yes-1) related oncogene homolog LYN 4067 ENSG00000254087 Lyn (MGI:96892) -chr8 56067253 56074505 8q12.1 8q12.1 603682 RPS20 Ribosomal protein S20 RPS20 6224 ENSG00000008988 Rps20 (MGI:1914677) -chr8 56112941 56113981 8q11 8q12.1 190060 MOS Oncogene MOS, Moloney murine sarcoma virus MOS 4342 ENSG00000172680 Mos (MGI:97052) -chr8 56160908 56211326 8q12 8q12.1 603026 PLAG1, SGPA, PSA, SRS4 PLAG1 zinc finger protein PLAG1 5324 ENSG00000181690 fused with CTNNB1 in SGPA Adenomas, salivary gland pleomorphic, somatic, 181030 (3); Silver-Russell syndrome 4, 618907 (3), Autosomal dominant Plag1 (MGI:1891916) -chr8 56211788 56218808 8q12 8q12.1 611238 CHCHD7 Coiled-coil-helix-coiled-coil-helix domain-containing protein 7 CHCHD7 79145 ENSG00000170791 Chchd7 (MGI:1913683) -chr8 56300004 56320559 8q12.1 8q12.1 608989 RDHE2 Retinal dehydrogenase, epidermal, 2 SDR16C5 195814 ENSG00000170786 Sdr16c5 (MGI:2668443) -chr8 56440956 56446640 8q23-q24 8q12.1 131330 PENK Proenkephalin PENK 5179 ENSG00000181195 Penk (MGI:104629) -chr8 56957930 56993873 8q12.1 8q12.1 614010 IMPAD1, GPAPP, IMPA3 Inositol monophosphatase domain-containing protein 1 BPNT2 54928 ENSG00000104331 Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3), Autosomal recessive Bpnt2 (MGI:1915720) -chr8 57994522 58148783 8q12.1 8q12.1 611394 FAM110B, C8orf72 Family with sequence similarity 110, member B FAM110B 90362 ENSG00000169122 Fam110b (MGI:1916593) -chr8 58411360 58451500 8q12.1 8q12.1 610686 UBXN2B, LOC137886, p37 UBX domain protein 2B UBXN2B 137886 ENSG00000215114 Ubxn2b (MGI:1915303) -chr8 58490177 58500162 8q11-q12 8q12.1 118455 CYP7A1, CYP7 Cytochrome P450, subfamily VII (cholesterol 7-alpha-monooxygenase), polypeptide 1 CYP7A1 1581 ENSG00000167910 Cyp7a1 (MGI:106091) -chr8 58553260 58582859 8q12.1 8q12.1 602217 SDCBP, TACIP18, MDA9 Syndecan-binding protein SDCBP 6386 ENSG00000137575 Sdcbp (MGI:1337026) -chr8 58583503 58659852 8q12-q13 8q12.1 603043 NSMAF, FAN Neutral sphingomyelinase activation-associated factor NSMAF 8439 ENSG00000035681 Nsmaf (MGI:1341864) -chr8 58805411 59119146 8q12.1 8q12.1 606863 TOX, KIAA0808 Thymus high mobility group box protein, mouse, homolog of TOX 9760 ENSG00000198846 Tox (MGI:2181659) -chr8 60185411 60281399 8q11-q12 8q12.1 114815 CA8, CALS, CARP, CAMRQ3 Carbonic anhydrase VIII CA8 767 ENSG00000178538 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3), Autosomal recessive Car8 (MGI:88253) -chr8 60516909 60623643 8q12.1 8q12.1-q12.2 179509 RAB2, RAB2A Ras-associated protein RAB2 RAB2A 5862 ENSG00000104388 Rab2a (MGI:1928750) -chr8 60600000 85900000 8q12.2-q21.2 600257 DEL8q12q21, C8DELq12q21 Bor-Duane hydrocephalus contiguous gene syndrome (chromosome 8q12.1-q21.2 deletion syndrome) Bor-Duane hydrocephalus contiguous gene syndrome, 600257 (4), Autosomal dominant -chr8 60600000 85900000 8q12.2-q21.2 123155 HDCPH1 Hydrocephalus, autosomal dominant ?Hydrocephalus, autosomal dominant, 123155 (2), Autosomal dominant -chr8 60678739 60868027 8q12.1 8q12.2 608892 CHD7, HH5 Chromodomain helicase DNA binding protein 7 CHD7 55636 ENSG00000171316 Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3), Autosomal dominant; CHARGE syndrome, 214800 (3), Autosomal dominant Chd7 (MGI:2444748) -chr8 60964832 61501628 8q12.2 8q12.2-q12.3 611292 CLVS1, RLBP1L1, CRALBPL Clavesin 1 CLVS1 157807 ENSG00000177182 Clvs1 (MGI:1921688) -chr8 61300000 65100000 8q12 608765 IS3 Scoliosis, isolated, susceptibility to, 3 {Scoliosis, isolated, susceptibility to, 3}, 608765 (2) -chr8 61300000 72000000 8q12-q13 611046 MTBS2 Mycobacterium tuberculosis, susceptibility to, 2 100188829 max lod at D8S1723 {Mycobacterium tuberculosis, susceptibility to, 2}, 611046 (2) -chr8 61500555 61714608 8q12.1 8q12.3 600582 ASPH, HAAH, FDLAB Aspartate beta-hydroxylase (junctin; junctate) ASPH 444 ENSG00000198363 Traboulsi syndrome, 601552 (3), Autosomal recessive Asph (MGI:1914186) -chr8 62248853 62999651 8q12.13 8q12.3 612872 NKAIN3 Na+/K+ transporting ATPase-interacting 3 NKAIN3 286183 ENSG00000185942 Nkain3 (MGI:2444830) -chr8 63015078 63038805 8q12.3 8q12.3 601509 GGH Gamma-glutamyl hydrolase GGH 8836 ENSG00000137563 Ggh (MGI:1329035) -chr8 63059487 63086522 8q13.1-q13.3 8q12.3 600415 TTPA, TTP1, AVED Tocopherol, alpha, transfer protein TTPA 7274 ENSG00000137561 Ataxia with isolated vitamin E deficiency, 277460 (3), Autosomal recessive Ttpa (MGI:1354168) -chr8 63168552 63212787 8q12.3 8q12.3 618669 YTHDF3 YTH N6-methyladenosine RNA-binding protein 3 YTHDF3 253943 ENSG00000185728 Ythdf3 (MGI:1918850) -chr8 64580364 64583626 8q13 8q12.3 613483 BHLHE22, BHLHB5, BETA3 Basic helix-loop-helix family, member E22 BHLHE22 27319 ENSG00000180828 Bhlhe22 (MGI:1930001) -chr8 64586574 64798736 8q21.3 8q12.3 603711 CYP7B1, CBAS3, SPG5A Cytochrome P450, subfamily VIIB (oxysterol 7-alpha-hydroxylase), polypeptide 1 CYP7B1 9420 ENSG00000172817 Spastic paraplegia 5A, autosomal recessive, 270800 (3), Autosomal recessive; Bile acid synthesis defect, congenital, 3, 613812 (3), Autosomal recessive Cyp7b1 (MGI:104978) -chr8 65643872 65771251 8q13.1 8q13.1 619414 MTFR1, CHPPR, KIAA0009 Mitochondrial fission regulator 1 MTFR1 9650 ENSG00000066855 Mtfr1 (MGI:1914722) -chr8 65714333 65842063 8q13-q22 8q13.1 171885 PDE7A, HCP1 Phosphodiesterase-7A PDE7A 5150 ENSG00000205268 Pde7a (MGI:1202402) -chr8 66014977 66101244 8q13.1 8q13.1 613945 DNAJC5B DNAJ/HSP40 homolog, subfamily C, member 5, beta DNAJC5B 85479 ENSG00000147570 Dnajc5b (MGI:1913576) -chr8 66112666 66175484 8q13.1 8q13.1 606469 TRIM55, RNF29, MURF2 Tripartite motif containing 55 TRIM55 84675 ENSG00000147573 Trim55 (MGI:3036269) -chr8 66176375 66178463 8q13 8q13.1 122560 CRH Corticotropin releasing hormone CRH 1392 ENSG00000147571 Crh (MGI:88496) -chr8 66429013 66430732 8q13.1 8q13.1 618311 RRS1 Ribosome biogenesis regulator 1, S. cerevisiae, homolog of RRS1 23212 ENSG00000179041 Rrs1 (MGI:1929721) -chr8 66432503 66468906 8q13.1 8q13.1 611083 ADHFE1, HOT, ADH8 Alcohol dehydrogenase, iron-containing, 1 ADHFE1 137872 ENSG00000147576 Adhfe1 (MGI:1923437) -chr8 66562174 66613217 8q22 8q13.1 159405 MYBL1 Avian myeloblastosis viral (v-myb) oncogene homolog like-1 MYBL1 4603 ENSG00000185697 Mybl1 (MGI:99925) -chr8 66628486 66667230 8q13 8q13.1 611745 VCPIP1 VCIP135, KIAA1850 VCP/p47 complex-interacting protein 1 VCPIP1 80124 ENSG00000175073 Vcpip1 (MGI:1917925) -chr8 66712780 66862021 8q12.3-q13.1 8q13.1 607591 SGK3, SGKL, CISK Serum/glucocorticoid-regulated kinase 3 SGK3 23678 ENSG00000104205 Sgk3 (MGI:2182368) -chr8 66870756 66926435 8q13.1 8q13.1 617545 MCMDC2, C8orf45 Minichromosome maintenance domain-containing protein 2 MCMDC2 157777 ENSG00000178460 Mcmdc2 (MGI:3045334) -chr8 66921689 66925540 8q13 8q13.1 612215 SNHG6, U87HG Small nucleolar RNA host gene 6 SNHG6 641638 ENSG00000245910 Snhg6 (MGI:1921074) -chr8 66922473 66922548 8q13 8q13.1 612216 SNORD87, U87 Small nucleolar RNA, C/D box, 87 SNORD87 641648 ENSG00000254341 within intron 2 of SNHG6 -chr8 66964102 67028553 8q13.1 8q13.1 617720 PPP1R42, TLRR, LRRC67 Protein phosphatase 1, rebulatory subunit 42 PPP1R42 286187 ENSG00000178125 Ppp1r42 (MGI:1921138) -chr8 67043078 67062132 8q13.2 8q13.1 604850 COPS5, JAB1, SGN5 COP9, subunit 5 COPS5 10987 ENSG00000121022 Cops5 (MGI:1349415) -chr8 67062416 67198002 8q13.2 8q13.1-q13.2 611654 CSPP1, CSPP, JBTS21 Centrosome spindle pole-associated protein 1 CSPP1 79848 ENSG00000104218 Joubert syndrome 21, 615636 (3), Autosomal recessive Cspp1 (MGI:2681832) -chr8 67174297 67343823 8q13 8q13.2 604141 ARFGEF1, ARFGEP1, BIG1, P200 ADP-ribosylation factor guanine nucleotide exchange factor 1 ARFGEF1 10565 ENSG00000066777 Arfgef1 (MGI:2442988) -chr8 67422037 67747113 8q13 8q13.2 609562 CPA6, CPAH, ETL5, FEB11 Carboxypeptidase A6 CPA6 57094 ENSG00000165078 Febrile seizures, familial, 11, 614418 (3), Autosomal recessive; Epilepsy, familial temporal lobe, 5, 614417 (3), Autosomal dominant, Autosomal recessive Cpa6 (MGI:3045348) -chr8 67951917 68237031 8q13.1-q13.2 8q13.2 612139 PREX2, DEPDC2 Phosphatidylinositol 3,4,5-trisphosphate-dependent RAC exchanger 2 PREX2 80243 ENSG00000046889 Prex2 (MGI:1923385) -chr8 69466623 69660911 8q13.3 8q13.2-q13.3 610012 SULF1, KIAA1077 Sulfatase 1 SULF1 23213 ENSG00000137573 Sulf1 (MGI:2138563) -chr8 69600000 72000000 8q13.3 603738 BTF3P12, BTF3L2 Basic transcription factor 3 pseudogene 12 BTF3P12 652963 -chr8 69600000 116700000 8q13-q23 607731 CMT2H Charcot-Marie-Tooth disease, axonal, type 2H 619496 between D8S1807 and D8S548 Charcot-Marie-Tooth disease, axonal, type 2H, 607731 (2), Autosomal recessive -chr8 69600000 72000000 8q13 600383 DEL8q13, C8DELq13 Mesomelia-synostoses syndrome (Chromosome 8q13 deletion syndrome) contiguous gene deletion of SULF1 and SLCO5A1 Mesomelia-synostoses syndrome, 600383 (4), Autosomal dominant -chr8 69600000 72000000 8q13 126800 DURS1, DUS Duane retraction syndrome 1 10674 Duane retraction syndrome 1, 126800 (2), Autosomal dominant -chr8 69600000 92300000 8q13-q21 121210 FEB1 Febrile seizures, familial, 1 2233 Febrile seizures, familial, 1, 121210 (2), Autosomal dominant -chr8 69667045 69835063 8q13.3 8q13.3 613543 SLCO5A1, OATPRP4, SLC21A15, OATPJ, OATP5A1 Solute carrier organic anion transporter family, member 5A1 SLCO5A1 81796 ENSG00000137571 Slco5a1 (MGI:2443431) -chr8 70051612 70071251 8q13.3 8q13.3 611781 PRDM14, PFM11 PR domain-containing protein 14 PRDM14 63978 ENSG00000147596 Prdm14 (MGI:3588194) -chr8 70109769 70405389 8q13.2-q13.3 8q13.3 601993 NCOA2, GRIP1, TIF2, SRC2 Nuclear receptor coactivator 2 NCOA2 10499 ENSG00000140396 Ncoa2 (MGI:1276533) -chr8 70573217 70608452 Chr.8 8q13.3 605190 TRAM Translocating chain-associating membrane protein TRAM1 23471 ENSG00000067167 Tram1 (MGI:1919515) -chr8 70637265 70669184 8q13.3 8q13.3 618921 LACTB2 Lactamase, beta-2 LACTB2 51110 ENSG00000147592 Lactb2 (MGI:2442551) -chr8 71197432 71548103 8q13.3 8q13.3 601653 EYA1, BOR, BOS1, OFC1 Eyes absent, Drosophila, homolog of, 1 EYA1 2138 ENSG00000104313 mutation identified in 1 OFC1 family Branchiootic syndrome 1, 602588 (3), Autosomal dominant; Branchiootorenal syndrome 1, with or without cataracts, 113650 (3), Autosomal dominant; Anterior segment anomalies with or without cataract, 602588 (3), Autosomal dominant; ?Otofaciocervical syndrome, 166780 (3), Autosomal dominant Eya1 (MGI:109344) -chr8 71841559 71844411 8q13.3 8q13.3 603628 MSC, ABF1, MYOR Musculin MSC 9242 ENSG00000178860 Msc (MGI:1333884) -chr8 72000000 74600000 8q21.11 614230 DEL8q21.11, C8DELq21.11 Chromosome 8q21.11 deletion syndrome contiguous gene deletion; minimal region (GRCh37, 8:77226464-77766239 Chromosome 8q21.11 deletion syndrome, 614230 (4), Autosomal dominant, Isolated cases -chr8 72021249 72094884 8q21.11 8q21.11 604775 TRPA1, ANKTM1, FEPS1 Transient receptor potential cation channel, subfamily A, member 1 TRPA1 8989 ENSG00000104321 mutation identified in 1 FEPS1 family ?Episodic pain syndrome, familial, 1, 615040 (3), Autosomal dominant Trpa1 (MGI:3522699) -chr8 72537224 72945889 Chr.8 8q21.11 607738 KCNB2, KV2.2 Potassium channel, voltage-gated, shab-related subfamily, member 2 KCNB2 9312 ENSG00000182674 Kcnb2 (MGI:99632) -chr8 73008855 73048122 8q13 8q21.11 600951 TERF1, TRF1 Telomeric repeat binding factor 1 TERF1 7013 ENSG00000147601 Terf1 (MGI:109634) -chr8 73290241 73294465 8q 8q21.11 604166 RPL7 Ribosomal protein L7 RPL7 6129 ENSG00000147604 pseudogene on chr.5 Rpl7 (MGI:98073) -chr8 73294601 73325280 Chr.8 8q21.11 607599 RDH10 Retinol dehydrogenase 10 RDH10 157506 ENSG00000121039 Rdh10 (MGI:1924238) -chr8 73420368 73747479 8q13-q21.1 8q21.11 605920 STAU2 Staufen, Drosophila, homolog of, 2 STAU2 27067 ENSG00000040341 Stau2 (MGI:1352508) -chr8 73780095 73878861 8q13-q21.1 8q21.11 614277 UBE2W, UBC16 Ubiquitin-conjugating enzyme 2W UBE2W 55284 ENSG00000104343 Ube2w (MGI:1914049) -chr8 73945118 73972286 Chr.8 8q21.11 600788 TCEB1 Transcription elongation factor B, polypeptide 1, 15kD (elongin C) ELOC 6921 ENSG00000154582 Eloc (MGI:1915173) -chr8 73976194 73982782 8q21.11 8q21.11 612418 TMEM70, MC5DN2 Transmembrane protein 70 TMEM70 54968 ENSG00000175606 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3), Autosomal recessive Tmem70 (MGI:1915068) -chr8 73991274 74099806 8q21.11 8q21.11 605243 LY96, MD2 Lymphocyte antigen 96 LY96 23643 ENSG00000154589 Ly96 (MGI:1341909) -chr8 74234699 74321539 8q21 8q21.11 605266 JPH1, JP1, CMT2K Junctophilin 1 JPH1 56704 ENSG00000104369 mutation identified in 1 CMT2K family ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, 607831 (3), Autosomal dominant, Autosomal recessive Jph1 (MGI:1891495) -chr8 74350402 74488871 8q21.11 8q21.11 606598 GDAP1, CMT4A, CMT2K, CMTRIA Ganglioside-induced differentiation-associated protein 1 GDAP1 54332 ENSG00000104381 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3), Autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3), Autosomal dominant, Autosomal recessive; Charcot-Marie-Tooth disease, type 4A, 214400 (3), Autosomal recessive Gdap1 (MGI:1338002) -chr8 74700000 83500000 8q21.13 612578 STQTL15 Stature quantitative trait locus 15 100270801 associated with rs2220456 {Stature QTL 15}, 612578 (2) -chr8 74824533 74855028 8q21.13 8q21.13 607076 PI15, P25TI Protease inhibitor 15 PI15 51050 ENSG00000137558 Pi15 (MGI:1934659) -chr8 75407566 75566833 8q21 8q21.13 605966 HNF4G Hepatocyte nuclear factor 4-gamma HNF4G 3174 ENSG00000164749 Hnf4g (MGI:1353604) -chr8 76681218 76867284 8q21.12 8q21.13 606940 ZFHX4, ZFH4 Zinc finger homeobox 4 ZFHX4 79776 ENSG00000091656 ?Ptosis, congenital, 178300 (2), Autosomal dominant Zfhx4 (MGI:2137668) -chr8 76980257 77001043 8q21.1 8q21.13 170993 PEX2, PAF1, PMP35, PBD5A, PBD5B, PXMP3 Peroxisome biogenesis factor 2 PEX2 5828 ENSG00000164751 Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3), Autosomal recessive; Peroxisome biogenesis disorder 5B, 614867 (3), Autosomal recessive Pex2 (MGI:107486) -chr8 78516339 78605266 Chr.8 8q21.13 606059 PKIA Protein kinase, cAMP-dependent catalytic, inhibitor alpha PKIA 5569 ENSG00000171033 Pkia (MGI:104747) -chr8 78675869 78806829 8q21.13 8q21.13 146660 IL7 Interleukin-7 IL7 3574 ENSG00000104432 mutation identified in 1 EV5 family {?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309 (3), Autosomal recessive Il7 (MGI:96561) -chr8 79611116 79666161 8q21.13 8q21.13 600621 STMN2, SCGN10, SCG10 Stathmin-like 2 STMN2 11075 ENSG00000104435 Stmn2 (MGI:98241) -chr8 79764009 79767766 8q21.13 8q21.13 602953 HEY1, HERP2, HESR1 HES-related family bHLH transcription factor with YRPW motif 1 HEY1 23462 ENSG00000164683 Hey1 (MGI:1341800) -chr8 79918716 80030258 8q21.1-q21.3 8q21.13 611990 MRPS28, MRPS35, COXPD47 Mitochondrial ribosomal protein S28 MRPS28 28957 ENSG00000147586 mutation identified in 1 COXPD47 patient ?Combined oxidative phosphorylation deficiency 47, 618958 (3), Autosomal recessive Mrps28 (MGI:1913480) -chr8 79918716 80171563 8q21 8q21.13 604068 TPD52, D52 Tumor protein D52 TPD52 7163 ENSG00000076554 Tpd52 (MGI:107749) -chr8 80485592 80526264 8q21.13 8q21.13 618576 ZBTB10, RINZF Zinc finger and BTB domain-containing protein 10 ZBTB10 65986 ENSG00000205189 Zbtb10 (MGI:2139883) -chr8 80967809 81112067 Chr.8 8q21.13 605767 PAG Phosphoprotein associated with glycosphingolipid-enriched microdomains PAG1 55824 ENSG00000076641 Pag1 (MGI:2443160) -chr8 81280535 81284774 8q21.13 8q21.13 605168 FABP5, PAFABP, EFABP Fatty acid-binding protein 5 FABP5 2171 ENSG00000164687 Fabp5 (MGI:101790) -chr8 81440325 81447438 8q21.3-q22.1 8q21.13 170715 PMP2, CMT1G Peripheral myelin protein-2 PMP2 5375 ENSG00000147588 Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 (3), Autosomal dominant Pmp2 (MGI:102667) -chr8 81478418 81483232 8q21 8q21.13 600434 FABP4 Fatty acid-binding protein-4, adipocyte FABP4 2167 ENSG00000170323 Fabp4 (MGI:88038) -chr8 81524672 81590663 8q21 8q21.13 618923 FABP12 Fatty acid-binding protein 12 FABP12 646486 ENSG00000197416 Fabp12 (MGI:1922747) -chr8 81656913 81686324 8q21.13-q21.3 8q21.13 602064 IMPA1, MRT59 Inositol(myo)-1(or 4)-monophosphatase-1 IMPA1 3612 ENSG00000133731 Mental retardation, autosomal recessive 59, 617323 (3), Autosomal recessive Impa1 (MGI:1933158) -chr8 81693630 81695057 8q21 8q21.13 618582 SLC10A5, P5 Solute carrier family 10 (sodium/bile acid cotransporter family), member A5 SLC10A5 347051 ENSG00000253598 Slc10a5 (MGI:2685251) -chr8 81732447 81759514 8q21.12 8q21.13 610899 CHMP4C, SNF7-3 Charged multivesicular body protein 4C CHMP4C 92421 ENSG00000164695 Chmp4c (MGI:1913621) -chr8 81799582 81842325 8q21.13 8q21.13 614903 SNX16 Sorting nexin 16 SNX16 64089 ENSG00000104497 Snx16 (MGI:1921968) -chr8 84182764 84921843 8q21.2 8q21.2 614648 RALYL RALY-like protein RALYL 138046 ENSG00000184672 Ralyl (MGI:1924147) -chr8 85107148 85146079 8q21.2 8q21.2 617791 LRRCC1, CLERK, KIAA1764 Leucine-rich repeat- and coiled-coil domain-containing centrosomal protein 1 LRRCC1 85444 ENSG00000133739 Lrrcc1 (MGI:1918960) -chr8 85177153 85214517 8q21.2 8q21.2 600967 E2F5 E2F transcription factor 5 E2F5 1875 ENSG00000133740 E2f5 (MGI:105091) -chr8 85245457 85284072 8q21.2 8q21.2 611436 CA13 Carbonic anhydrase XIII CA13 377677 ENSG00000185015 Car13 (MGI:1931322) -chr8 85327607 85378112 8q22 8q21.2 114800 CA1 Carbonic anhydrase I CA1 759 ENSG00000133742 Car1 (MGI:88268) -chr8 85438858 85449039 8q22 8q21.2 114750 CA3 Carbonic anhydrase III CA3 761 ENSG00000164879 Car3 (MGI:88270) -chr8 85464006 85481492 8q22 8q21.2 611492 CA2 Carbonic anhydrase II CA2 760 ENSG00000104267 CA1, CA2 linked in monkey and mouse Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3), Autosomal recessive Car2 (MGI:88269) -chr8 85900000 105100000 8q21-q22 258500 OPA6 Optic atrophy 6 777778 between D8S1702 and D8S1794 Optic atrophy 6, 258500 (2), Autosomal recessive -chr8 86098909 86154224 8q21.3 8q21.3 618072 ATP6V0D2 ATPase, H+ transporting, V0 subunit D2 ATP6V0D2 245972 ENSG00000147614 Atp6v0d2 (MGI:1924415) -chr8 86213908 86230380 8q21.3 8q21.3 617256 SLC7A13, AGT1, XAT2 Solute carrier family 7, member 13 SLC7A13 157724 ENSG00000164893 Slc7a13,Slc7a12 (MGI:2156159,MGI:1921337) -chr8 86342546 86468502 8q21 8q21.3 602307 WWP1, TIUL1 WW domain-containing protein 1 WWP1 11059 ENSG00000123124 Wwp1 (MGI:1861728) -chr8 86467054 86514356 8q21.3 8q21.3 611871 FAM82B, RMD1 Family with sequence similarity 82, member B RMDN1 51115 ENSG00000176623 Rmdn1 (MGI:1913552) -chr8 86514421 86561497 8q21.3 8q21.3 604207 CPNE3, CPN3 Copine III CPNE3 8895 ENSG00000085719 Cpne3 (MGI:1917818) -chr8 86573607 86743633 8q21-q22 8q21.3 605080 CNGB3, ACHM3, ACHM1 Cyclic nucleotide-gated channel, beta-3 CNGB3 54714 ENSG00000170289 Achromatopsia 3, 262300 (3), Autosomal recessive Cngb3 (MGI:1353562) -chr8 88032008 88327482 8q21 8q21.3 602262 MMP16 Matrix metalloproteinase 16 (membrane-inserted) MMP16 4325 ENSG00000156103 Mmp16 (MGI:1276107) -chr8 89757815 89791063 8q21.3 8q21.3 603455 RIPK2, CARDIAK, RIP2, RICK Receptor-interacting serine/threonine kinase 2 RIPK2 8767 ENSG00000104312 Ripk2 (MGI:1891456) -chr8 89901867 89935613 8q21.3 8q21.3 604598 OSGIN2, C8orf1 Oxidative stress-induced growth inhibitor family member 2 OSGIN2 734 ENSG00000164823 Osgin2 (MGI:2384798) -chr8 89933330 89984697 8q21 8q21.3 602667 NBN, NBS1 Nibrin NBN 4683 ENSG00000104320 Leukemia, acute lymphoblastic, 613065 (3); Aplastic anemia, 609135 (3); Nijmegen breakage syndrome, 251260 (3), Autosomal recessive Nbn (MGI:1351625) -chr8 90001436 90053632 8q21.3 8q21.3 222745 DECR1 2,4-dienoyl CoA reductase DECR1 1666 ENSG00000104325 Decr1 (MGI:1914710) -chr8 90058607 90082878 8q21.3-q22.1 8q21.3 114050 CALB1 Calbindin 1, 28kD CALB1 793 ENSG00000104327 Calb1 (MGI:88248) -chr8 90993801 91040895 8q21.2 8q21.3 609864 TMEM55A Transmembrane protein 55A PIP4P2 55529 ENSG00000155099 Pip4p2 (MGI:1919769) -chr8 91070304 91087094 8q21.3 8q21.3 612021 OTUD6B, DUBA5, IDDFSDA OTU domain-containing protein 6B OTUD6B 51633 ENSG00000155100 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive Otud6b (MGI:1919451) -chr8 91209495 91398154 8q21.3 8q21.3 608479 SLC26A7 Solute carrier family 26 (sulfate transporter), member 7 SLC26A7 115111 ENSG00000147606 Slc26a7 (MGI:2384791) -chr8 91954966 92103450 8q22 8q21.3 133435 RUNX1T1, CBFA2T1, AML1T1, ETO unt-related transcription factor 1, translocated to, 1, cyclin D-related RUNX1T1 862 ENSG00000079102 fused with AML1 in t(8;21) Runx1t1 (MGI:104793) -chr8 92300000 97900000 8q22.1 151200 DUP8q22.1, C8DUPq22.1 Chromosome 8q22.1 duplication syndrome (Leri pleonosteosis) duplication of 0.9-1.2 Mb on 8q22.1 Leri pleonosteosis chromosome duplication syndrome, 151200 (4), Autosomal dominant -chr8 92300000 97900000 8q22.1 608156 NMLFS, DEL8q22.1, C8DELq22.1 Nablus mask-like facial syndrome (chromosome 8q22.1 deletion syndrome) Nablus mask-like facial syndrome, 608156 (4), Autosomal dominant -chr8 93700549 93731526 8q22.1 8q22.1 617273 FAM92A, FAM92A1, PAPA9 Family with sequence similarity 92, member A CIBAR1 137392 ENSG00000188343 mutation identified in 1 PAPA9 family ?Polydactyly, postaxial, type A9, 618219 (3), Autosomal recessive Cibar1 (MGI:1915349) -chr8 93754843 93832652 8q21.13-q22.1 8q22.1 609884 TMEM67, MKS3, JBTS6, NPHP11 Transmembrane protein 67 (meckelin) TMEM67 91147 ENSG00000164953 mutation identified in 1 RHYNS patient Nephronophthisis 11, 613550 (3), Autosomal recessive; {Bardet-Biedl syndrome 14, modifier of}, 615991 (3), Autosomal recessive; Joubert syndrome 6, 610688 (3), Autosomal recessive; Meckel syndrome 3, 607361 (3), Autosomal recessive; ?RHYNS syndrome, 602152 (3), Autosomal recessive; COACH syndrome 1, 216360 (3), Autosomal recessive Tmem67 (MGI:1923928) -chr8 93916922 93926067 8q22.1 8q22.1 605993 PDP1, PPM2C, PDPC Pyruvate dehydrogenase phosphatase catalytic subunit 1 PDP1 54704 ENSG00000164951 Pyruvate dehydrogenase phosphatase deficiency, 608782 (3), Autosomal recessive Pdp1 (MGI:2685870) -chr8 94127161 94217277 8q22.1 8q22.1 603017 CDH17, CDH16, HPT1 Cadherin-17, liver-intestine CDH17 1015 ENSG00000079112 Cdh17 (MGI:1095414) -chr8 94249248 94262344 8q13-q21 8q22.1 600164 GEM GTP-binding protein overexpressed in skeletal muscle GEM 2669 ENSG00000164949 Gem (MGI:99844) -chr8 94371959 94475114 8q21.3-q22 8q22.1 604289 RAD54B RAD54 homolog B RAD54B 25788 ENSG00000197275 Colon cancer, somatic, 114500 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3) Rad54b (MGI:3605986) -chr8 94427715 94436943 8q22.1 8q22.1 616306 FSBP Fibrinogen silencer-binding protein FSBP 100861412 ENSG00000265817 Fsbp (MGI:5301008) -chr8 94487688 94553468 8q22.1 8q22.1 616447 VIRMA, KIAA0922 VIR-like M6A methyltransferase-associated protein VIRMA 25962 ENSG00000164944 Virma (MGI:1913435) -chr8 94640998 94707465 8q22.1 8q22.1 612959 ESRP1, RMB35A, DFNB109 Epithelial splicing regulatory protein 1 ESRP1 54845 ENSG00000104413 mutation identified in 1 DFNB109 family ?Deafness, autosomal recessive 109, 618013 (3), Autosomal recessive Esrp1 (MGI:1917326) -chr8 94719707 94793835 8q22.1 8q22.1 613895 DPY19L4 DPY19-like 4 DPY19L4 286148 ENSG00000156162 Dpy19l4 (MGI:2685869) -chr8 94823286 94894663 8q22.1 8q22.1 611351 INTS8, INT8, NEDCHS Integrator complex subunit 8 INTS8 55656 ENSG00000164941 mutation identified in 1 NEDCHS family ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, 618572 (3), Autosomal recessive Ints8 (MGI:1919906) -chr8 94880223 94896670 8q22.1 8q22.1 603775 CCNE2 Cyclin E2 CCNE2 9134 ENSG00000175305 Ccne2 (MGI:1329034) -chr8 94895798 95118495 8q22.1 8q22.1 612392 NDUFAF6, C8orf38, MC1DN17, FRTS5 NADH-ubiquinone oxidoreductase complex assembly factor 6 NDUFAF6 137682 ENSG00000156170 Mitochondrial complex I deficiency, nuclear type 17, 618239 (3), Autosomal recessive; Fanconi renotubular syndrome 5, 618913 (3), Autosomal recessive Ndufaf6 (MGI:1924197) -chr8 94925971 94949377 8q22 8q22.1 606185 TP53DINP1, P53DINP1 Tumor protein p53 inducible nuclear protein 1 TP53INP1 94241 ENSG00000164938 Trp53inp1 (MGI:1926609) -chr8 95133784 95156684 8q22.1 8q22.1 615208 PLEKHF2, EAPF, PHAFIN2 Pleckstrin homology domain-containing protein, family F, member 2 PLEKHF2 79666 ENSG00000175895 Plekhf2 (MGI:1919051) -chr8 95244912 95269200 8q22.1 8q22.1 614477 CFAP418, C8orf37, CORD16, RP64, BBS21 Cilia- and flagella-associated protein 418 CFAP418 157657 ENSG00000156172 Retinitis pigmentosa 64, 614500 (3), Autosomal recessive; Cone-rod dystrophy 16, 614500 (3), Autosomal recessive; Bardet-Biedl syndrome 21, 617406 (3), Autosomal recessive Cfap418 (MGI:1914407) -chr8 96142332 96160805 8q22.1 8q22.1 601147 GDF6, MCOP4, KFS1, MCOPCB6, LCA17, SYNS4 Growth/differentiation factor 6 GDF6 392255 ENSG00000156466 Microphthalmia with coloboma 6, digenic, 613703 (3), Autosomal dominant; Microphthalmia, isolated 4, 613094 (3); Leber congenital amaurosis 17, 615360 (3), Autosomal recessive; Multiple synostoses syndrome 4, 617898 (3), Autosomal dominant; Klippel-Feil syndrome 1, autosomal dominant, 118100 (3), Autosomal dominant Gdf6 (MGI:95689) -chr8 96222946 96235544 8q22 8q22.1 191330 UQCRB, UQBP, QPC, MC3DN3 Ubiquinol-cytochrome c reductase binding protein UQCRB 7381 ENSG00000156467 Mitochondrial complex III deficiency, nuclear type 3, 615158 (3), Autosomal recessive Uqcrb (MGI:1914780) -chr8 96239397 96261612 8q22.1 8q22.1 616930 MTERF3, MTERFD1 Transcription termination factor 3, mitochondrial MTERF3 51001 ENSG00000156469 Mterf3 (MGI:1913660) -chr8 96261901 96336994 8q22 8q22.1 612792 PTDSS1, PSS1, KIAA0024, LMHD Phosphatidylserine synthase 1 PTDSS1 9791 ENSG00000156471 Lenz-Majewski hyperostotic dwarfism, 151050 (3), Autosomal dominant Ptdss1 (MGI:1276575) -chr8 96493600 96611789 8q22-q24 8q22.1 142460 SDC2, HSPG1 Syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated; fibroglycan) SDC2 6383 ENSG00000169439 Sdc2 (MGI:1349165) -chr8 96645241 97143500 8q22.2 8q22.1 618754 CPQ, PGCP Carboxypeptidase Q CPQ 10404 ENSG00000104324 Cpq (MGI:1889205) -chr8 97273487 97277927 8q22 8q22.1 614721 TSPYL5, KIAA1750 TSPY-like 5 TSPYL5 85453 ENSG00000180543 Tspyl5 (MGI:2442458) -chr8 97643971 97730259 8q22-q23 8q22.1 610323 MTDH, AEG1, LYRIC Metadherin MTDH 92140 ENSG00000147649 Mtdh (MGI:1914404) -chr8 97775787 97853012 8q22.1 8q22.1 613296 LAPTM4B Lysosome-associated protein, transmembrane 4, beta LAPTM4B 55353 ENSG00000104341 pseudogenes on 1q, 3q,3p, 4q, and 7q33-q35 Laptm4b (MGI:1890494) -chr8 97869063 98036723 8q22 8q22.1-q22.2 602108 MATN2 Matrilin 2 MATN2 4147 ENSG00000132561 Matn2 (MGI:109613) -chr8 98041720 98045544 8q22.2 8q22.2 180467 RPL30 Ribosomal protein L30 RPL30 6156 ENSG00000156482 Rpl30 (MGI:98037) -chr8 98102343 98117170 8q22 8q22.2 602487 HRSP12, PSP, UK114 Heat-responsive protein 12 RIDA 10247 ENSG00000132541 Rida (MGI:1095401) -chr8 98117292 98159834 8q22 8q22.2 602486 POP1, ANXD2 POP1 homolog, ribonuclease P/MRP subunit POP1 10940 ENSG00000104356 Anauxetic dysplasia 2, 617396 (3), Autosomal recessive Pop1 (MGI:1914974) -chr8 98426957 98432852 8q22 8q22.2 602906 KCNS2 Potassium voltage-gated channel, delayed-rectifier, subfamily S, member-2 KCNS2 3788 ENSG00000156486 Kcns2 (MGI:1197011) -chr8 98433047 98944328 8q22.2 8q22.2 605030 STK3, MST2, KRS1 Serine/threonine protein kinase 3 STK3 6788 ENSG00000104375 Stk3 (MGI:1928487) -chr8 98944441 98952099 8q23 8q22.2 611297 OSR2 Odd-skipped-related 2 OSR2 116039 ENSG00000164920 Osr2 (MGI:1930813) -chr8 99013273 99877579 8q22-q23 8q22.2 607817 VPS13B, KIAA0532, COH1 Vacuolar protein sorting 12 homolog B VPS13B 157680 ENSG00000132549 Cohen syndrome, 216550 (3), Autosomal recessive Vps13b (MGI:1916380) -chr8 99877864 99893706 8q22-q23 8q22.2 124090 COX6C Cytochrome c oxidase, subunit VIc COX6C 1345 ENSG00000164919 pseudogene on 16p12 Cox6c (MGI:104614) -chr8 99960935 100106945 8q22.2 8q22.2 615650 RGS22 Regulator of G protein signaling 22 RGS22 26166 ENSG00000132554 Rgs22 (MGI:3613651) -chr8 100133350 100150568 8q22.3 8q22.2 609110 FBXO43, EMI2, ERP1, FBX43 F-box only protein 43 FBXO43 286151 ENSG00000156509 Fbxo43 (MGI:1926053) -chr8 100150635 100154002 8p22 8q22.2 606033 POLR2K, RPB12 Polymerase II, RNA, subunit K POLR2K 5440 ENSG00000147669 Gm14567,Polr2k (MGI:3705732,MGI:102725) -chr8 100157868 100241903 8q22 8q22.2 603395 SPAG1, CILD28 Sperm-associated antigen-1 SPAG1 6674 ENSG00000104450 Ciliary dyskinesia, primary, 28, 615505 (3), Autosomal recessive Spag1 (MGI:1349387) -chr8 100257061 100336203 8q22.2 8q22.2 607119 RNF19A, DORFIN Ring finger protein 19A, RBR E3 ubiquitin protein ligase RNF19A 25897 ENSG00000034677 Rnf19a (MGI:1353623) -chr8 100500000 105100000 8q22 145701 HTC1 Hypertrichosis universalis congenita, Ambras type 3341 ?Hypertrichosis universalis congenita, Ambras type, 145701 (2), Autosomal dominant -chr8 100500000 105100000 8q22.3 149000 KTWS, KTS Klippel-Trenaunay-Weber syndrome 791122 translocation with 14q13 Klippel-Trenaunay-Weber syndrome, 149000 (2), Isolated cases -chr8 100500000 105100000 8q22.3 613318 MMD2 Miyoshi muscular dystrophy 2 100505381 max lod at D10S2325 Miyoshi muscular dystrophy 2, 613318 (2) -chr8 100702915 100722087 8q22 8q22.3 604679 PABPC1, PAB1, PABP1, PABP Polyadenylate-binding protein, cytoplasmic, 1 PABPC1 26986 ENSG00000070756 Pabpc1,Pabpc2,Pabpc6 (MGI:1349723,MGI:1349722,MGI:1914793) -chr8 100916522 100954067 8q22.3 8q22.3 601288 YWHAZ Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide YWHAZ 7534 ENSG00000164924 pseudogene on 2p25 Ywhaz (MGI:109484) -chr8 101492438 101678103 8q22 8q22.3 608576 GRHL2, TFCP2L3, DFNA28, ECTDS, PPCD4 Grainyhead-like 2 GRHL2 79977 ENSG00000083307 Deafness, autosomal dominant 28, 608641 (3), Autosomal dominant; Ectodermal dysplasia/short stature syndrome, 616029 (3), Autosomal recessive; Corneal dystrophy, posterior polymorphous, 4, 618031 (3), Autosomal dominant Grhl2 (MGI:2182543) -chr8 101686541 102124906 8q22.2 8q22.3 606722 NCALD Neurocalcin, delta NCALD 83988 ENSG00000104490 Ncald (MGI:1196326) -chr8 102204500 102238960 8q23.1 8q22.3 604712 RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B Ribonucleotide reductase regulatory TP53 inducible subunit M2B RRM2B 50484 ENSG00000048392 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3), Autosomal dominant Rrm2b (MGI:2155865) -chr8 102252272 102412699 8q22.3 8q22.3 608413 UBR5, EDD1, HYD, KIAA0896 Ubiquitin protein ligase E3 component n-recognin 5 UBR5 51366 ENSG00000104517 Ubr5 (MGI:1918040) -chr8 102551588 102561017 8q22 8q22.3 182878 ODF1 Outer dense fiber of sperm tails 1 ODF1 4956 ENSG00000155087 Odf1 (MGI:97424) -chr8 102648783 102655724 8q22.2 8q22.3 601878 KLF10, TIEG Kruppel-like factor 10 KLF10 7071 ENSG00000155090 Klf10 (MGI:1101353) -chr8 102826301 102864199 8q22.3 8q22.3 607909 AZIN1, OAZIN Antizyme inhibitor 1 AZIN1 51582 ENSG00000155096 Azin1 (MGI:1859169) -chr8 103021082 103073050 8q22.3 8q22.3 603097 ATP6V1C1, ATP6C, ATP6D ATPase, H+ transporting, V1 subunit C1 ATP6V1C1 528 ENSG00000155097 Atp6v1c1 (MGI:1913585) -chr8 103140724 103230304 8q22.3 8q22.3 606602 BAALC Brain and acute leukemia gene, cytoplasmic BAALC 79870 ENSG00000164929 Baalc (MGI:1928704) -chr8 103298493 103332865 8q22.3-q23.1 8q22.3 603409 FZD6, NDNC1 Frizzled class receptor 6 FZD6 8323 ENSG00000164930 Nail disorder, nonsyndromic congenital, 1, 161050 (3), Autosomal recessive Fzd6 (MGI:108474) -chr8 103371537 103382988 8q22.3 8q22.3 610635 CTHRC1 Collagen triple-helix repeat-containing protein 1 CTHRC1 115908 ENSG00000164932 Barrett esophagus/esophageal adenocarcinoma, 614266 (3) Cthrc1 (MGI:1915838) -chr8 103398637 103415106 8q21.2 8q22.3 138480 SLC25A32, MFT, GLYB, RREI Solute carrier family 25 (mitochondrial carrier, folate), member 32 SLC25A32 81034 ENSG00000164933 mutation identified in 1 RREI patient ?Exercise intolerance, riboflavin-responsive, 616839 (3), Autosomal recessive Slc25a32 (MGI:1917156) -chr8 103415385 103443452 8q22.3 8q22.3 616196 DCAF13, WDSOF1 DDB1- and CUL4-associated factor 13 DCAF13 25879 ENSG00000164934 Dcaf13 (MGI:2684929) -chr8 103499933 104256093 8q22.3 8q22.3 606630 RIMS2, KIAA0751, RIM2, OBOE, CRSDS Regulating synaptic membrane exocytosis-2 RIMS2 9699 ENSG00000176406 Cone-rod synaptic disorder syndrome, congenital nonprogressive, 618970 (3), Autosomal recessive Rims2 (MGI:2152972) -chr8 104339086 104356873 8q22 8q22.3 605933 TM7SF4, DCSTAMP, FIND Transmembrane 7 superfamily, member 4 DCSTAMP 81501 ENSG00000164935 Dcstamp (MGI:1923016) -chr8 104379428 104467073 8q22 8q22.3 613326 DPYS, DHP Dihydropyrimidinase DPYS 1807 ENSG00000147647 Dihydropyrimidinuria, 222748 (3), Autosomal recessive Dpys (MGI:1928679) -chr8 104489235 104589257 8q22.3 8q22.3 618299 LRP12, MIG13A Low density lipoprotein receptor-related protein 12 LRP12 29967 ENSG00000147650 Oculopharyngodistal myopathy 1, 164310 (3), Autosomal dominant Lrp12 (MGI:2443132) -chr8 105318437 105804538 8q23 8q23.1 603693 ZFPM2, FOG2, DIH3, SRXY9 Zinc finger protein, multitype 2 (friend of GATA2) ZFPM2 23414 ENSG00000169946 Diaphragmatic hernia 3, 610187 (3); 46XY sex reversal 9, 616067 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant Zfpm2 (MGI:1334444) -chr8 106270177 106752693 8q23 8q23.1 605609 OXR1, CHEGDD Oxidation resistance 1 OXR1 55074 ENSG00000164830 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, 213000 (3), Autosomal recessive Oxr1 (MGI:2179326) -chr8 106759482 106809072 8q23 8q23.1 609747 ABRA, STARS Actin-binding RHO-activating protein ABRA 137735 ENSG00000174429 Abra (MGI:2444891) -chr8 107249481 107497917 8q22 8q23.1 601667 ANGPT1, ANG1, HAE5 Angiopoietin-1 ANGPT1 284 ENSG00000154188 mutation identified in 1 HAE5 family ?Angioedema, hereditary, 5, 619361 (3), Autosomal dominant Angpt1 (MGI:108448) -chr8 107899315 108083679 8q23.1 8q23.1 610575 RSPO2, CRISTIN2, TETAMS2, HHRRD R-spondin member 2 RSPO2 340419 ENSG00000147655 mutation identified in 1 HHRRD family ?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3), Autosomal recessive; Tetraamelia syndrome 2, 618021 (3), Autosomal recessive Rspo2 (MGI:1922667) -chr8 108201215 108248733 8q22-q23 8q23.1 602210 EIF3E, EIF3S6, INT6 Eukaryotic translation initiation factor 3, subunit E (oncogene INT6) EIF3E 3646 ENSG00000104408 Eif3e (MGI:99257) -chr8 108443623 108489195 8q23.1 8q23.1 607722 EMC2, KIAA0103 ER membrane protein complex subunit 2 EMC2 9694 ENSG00000104412 Emc2 (MGI:1913986) -chr8 108606849 108787593 8q23.2 8q23.1 613935 TMEM74 Transmembrane protein 74 TMEM74 157753 ENSG00000164841 Tmem74 (MGI:2443417) -chr8 109086584 109121564 8q23 8q23.1 188545 TRHR, CHNG7 Thyrotropin-releasing hormone receptor TRHR 7201 ENSG00000174417 Hypothyroidism, congenital, nongoitrous, 7, 618573 (3), Autosomal recessive Trhr (MGI:98824) -chr8 109240918 109334086 8q23 8q23.1 606109 CML66 Immunogenic tumor antigen CML66 NUDCD1 84955 ENSG00000120526 Nudcd1 (MGI:1914679) -chr8 109334346 109345953 8q23.1 8q23.1 619015 ENY2, SUS1 ENY2 transcription and export complex 2 subunit ENY2 56943 ENSG00000120533 Eny2 (MGI:1919286) -chr8 109362460 109537206 8q23 8q23.1-q23.2 607843 PKHD1L1 PKHD1-like 1 PKHD1L1 93035 ENSG00000205038 Pkhd1l1 (MGI:2183153) -chr8 109539701 109565995 8q23 8q23.2 605772 EBAG9, RCAS1, EB9 Estrogen receptor-binding site-associated antigen 9 EBAG9 9166 ENSG00000147654 Ebag9 (MGI:1859920) -chr8 109573977 109691599 8q23 8q23.2 611568 GOLSYN, SYBU, KIAA1472 Golgi-localized syntaphilin-related protein SYBU 55638 ENSG00000147642 Sybu (MGI:2442392) -chr8 109963635 109975770 8q22.3-q24.1 8q23.2 608164 KCNV1, KV8.1 Potassium channel, voltage-gated, subfamily V, member 1 KCNV1 27012 ENSG00000164794 Kcnv1 (MGI:1914748) -chr8 111100000 116700000 8q23 612231 CRCS6 Colorectal cancer, susceptibility to, 6 100187710 associated with rs16892766 {Colorectal cancer, susceptibility to, 6}, 612231 (2) -chr8 111100000 116700000 8q23 602429 GLC1D Glaucoma 1, open angle, D 2724 Glaucoma 1D, primary open angle, 602429 (2) -chr8 111100000 116700000 8q23 607053 HDLCQ2 High density lipoprotein cholesterol level QTL 2 353127 [High density lipoprotein cholesterol level QTL 2], 607053 (2) -chr8 111100000 145138636 8q23-q24 140300 HT Hashimoto thyroiditis 140805 ?chr.12 Hashimoto thyroiditis, 140300 (2), Autosomal dominant -chr8 111100000 116700000 8q23 612729 LBMQTL1 Lean body mass quantitative trait locus 1 100294719 associated with rs16892496 and rs7832552 [Lean body mass QTL 1], 612729 (2) -chr8 111100000 145138636 8q23-q24 611376 MGS Mungan syndrome between D8S1830 and D8S1799 Mungan syndrome, 611376 (2), Autosomal recessive -chr8 111100000 116700000 8q23 608796 MYMY3 Moyamoya disease 3 493818 max lod at D8S546 Moyamoya disease 3, 608796 (2) -chr8 112222927 113437498 8q23.3 8q23.3 608399 CSMD3, KIAA1894 Cub and Sushi multiple domains 3 CSMD3 114788 ENSG00000164796 Csmd3 (MGI:2386403) -chr8 115408495 115668974 8q24.12 8q23.3 604386 TRPS1 Zinc finger transcription factor TRPS1 TRPS1 7227 ENSG00000104447 Trichorhinophalangeal syndrome, type III, 190351 (3), Autosomal dominant; Trichorhinophalangeal syndrome, type I, 190350 (3), Autosomal dominant Trps1 (MGI:1927616) -chr8 116642129 116755822 8q24.11 8q-q 603912 EIF3H, EIF3S3 Eukaryotic translation initiation factor 3, subunit H EIF3H 8667 ENSG00000147677 Eif3h (MGI:1915385) -chr8 116700000 126300000 8q24.11-q24.13 150230 TRPS2, LGCR, LGS Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome) contiguous gene syndrome involving TRPS1 and EXT1 Trichorhinophalangeal syndrome, type II, 150230 (4), Autosomal dominant -chr8 116845933 116874775 8q24 8q24.11 606462 RAD21, SCC1, NXP1, KIAA0078, CDLS4, MGS RAD21 cohesin complex component RAD21 5885 ENSG00000164754 mutation identified in 1 MGS family Cornelia de Lange syndrome 4, 614701 (3), Autosomal dominant; ?Mungan syndrome, 611376 (3), Autosomal recessive Rad21 (MGI:108016) -chr8 116950216 117176713 8q24.11 8q24.11 611145 SLC30A8, ZNT8 Solute carrier family 30 (zinc transporter), member 8 SLC30A8 169026 ENSG00000164756 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant Slc30a8 (MGI:2442682) -chr8 117520712 117540261 8q24.11 8q24.11 610237 MED30, TRAP25, THRAP6 Mediator complex subunit 30 MED30 90390 ENSG00000164758 Med30 (MGI:1917040) -chr8 117794489 118111825 8q24.11-q24.13 8q24.11 608177 EXT1 Exostosin 1 EXT1 2131 ENSG00000182197 distal to TRPS1 Exostoses, multiple, type 1, 133700 (3), Autosomal dominant; Chondrosarcoma, 215300 (3), Somatic mutation Ext1 (MGI:894663) -chr8 118131824 118621962 8q24.1 8q24.11-q24.12 618073 SAMD12 Sterile alpha motif domain containing 12 SAMD12 401474 ENSG00000177570 Epilepsy, familial adult myoclonic, 1, 601068 (3), Autosomal dominant Samd12 (MGI:2444518) -chr8 118923556 118951884 8q24 8q24.12 602643 TNFRSF11B, OPG, OCIF, PDB5 Tumor necrosis factor receptor superfamily, member 11B (osteoprotegerin) TNFRSF11B 4982 ENSG00000164761 Paget disease of bone 5, juvenile-onset, 239000 (3), Autosomal recessive Tnfrsf11b (MGI:109587) -chr8 118952232 119108454 8q23-q24.1 8q24.12 607620 COLEC10, CLL1, 3MC3 Collectin 10 COLEC10 10584 ENSG00000184374 3MC syndrome 3, 248340 (3), Autosomal recessive Colec10 (MGI:3606482) -chr8 119208362 119245672 8q24.12 8q24.12 609684 MAL2 MAL proteolipid protein 2 MAL2 114569 ENSG00000147676 Mal2 (MGI:2146021) -chr8 119416445 119424433 8q24.1 8q24.12 164958 CCN3, NOV Cellular communication network factor 3 CCN3 4856 ENSG00000136999 proximal to MYC Ccn3 (MGI:109185) -chr8 119557084 119673403 8q24.1 8q24.12 601060 ENPP2, PDNP2 Ectonucleotide pyrophosphatase/phosphodiesterase 2 ENPP2 5168 ENSG00000136960 Enpp2 (MGI:1321390) -chr8 119730772 119832857 8q24.12 8q24.12 604912 TAF2, TAF2B, TAFII150, CIF150, MRT40 TAF2 RAN polymerase II, TATA box-binding protein-associated factor, 150kD TAF2 6873 ENSG00000064313 Mental retardation, autosomal recessive 40, 615599 (3), Autosomal recessive Taf2 (MGI:2443028) -chr8 119833959 119855919 8q24.12 8q24.12 613203 DSCC1, DCC1 DNA replication and sister chromatid cohesion 1 DSCC1 79075 ENSG00000136982 Dscc1 (MGI:1919357) -chr8 119873721 120050917 8q24.12 8q24.12 612974 DEPDC6, DEPTOR DEP domain-containing protein 6 DEPTOR 64798 ENSG00000155792 Deptor (MGI:2146322) -chr8 120124466 120373572 8q23 8q24.12 120324 COL14A1, UND Collagen, type XIV, alpha-1 (undulin) COL14A1 7373 ENSG00000187955 Col14a1 (MGI:1341272) -chr8 120395436 120445149 8q24.12 8q24.12 610200 MRPL13, RPML13, L13A Mitochondrial ribosomal protein L13 MRPL13 28998 ENSG00000172172 Mrpl13 (MGI:2137218) -chr8 120445400 120523635 8q24.1-q24.3 8q24.12 605927 MDM2BP, MTBP MDM2-binding protein MTBP 27085 ENSG00000172167 Mtbp (MGI:2146005) -chr8 120535755 120812045 8q23-q24 8q24.12 600026 SNT2B1, A1B, SNTB1 Syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic basic component 1) SNTB1 6641 ENSG00000172164 Sntb1 (MGI:101781) -chr8 121500000 135400000 8q24.13-q24.22 612448 ARHI1 Age-related hearing impairment 1 100233147 between rs3765212 and rs4601326 {Age-related hearing impairment 1}, 612448 (2) -chr8 121500000 130400000 8q24.13-q24.21 614936 PPKP1B Keratoderma, palmoplantar, punctate type IB 101154752 between D8S1804 and D8S1720 Keratoderma, palmoplantar, punctate type IB, 614936 (2), Autosomal dominant -chr8 121500000 126300000 8q24.1 275220 THM Tibial hemimelia 117193 ?Tibial hemimelia, 275220 (2), Autosomal recessive -chr8 121612115 121641439 8q24.12 8q24.13 601636 HAS2 Hyaluronan synthase-2 HAS2 3037 ENSG00000170961 Has2 (MGI:107821) -chr8 121639345 121645324 8q24.13 8q24.13 614353 HAS2AS1, HASNT HAS2 antisense RNA 1 HAS2-AS1 594842 -chr8 123013169 123042301 8q24.13 8q24.13 608813 DERL1, DER1 DER1-like domain family, member 1 DERL1 79139 ENSG00000136986 Derl1 (MGI:1915069) -chr8 123248455 123275540 8q 8q24.13 604764 ZHX1 Zinc finger and homeodomain protein 1 ZHX1 11244 ENSG00000165156 Zhx1 (MGI:109271) -chr8 123319849 123396446 8q24.13 8q24.13 611941 ATAD2, ANCCA ATPase family, AAA domain-containing, member 2 ATAD2 29028 ENSG00000156802 Atad2 (MGI:1917722) -chr8 123497888 123541205 8q24.13 8q24.13 606604 FBXO32, MAFBX, FLJ32424, ATROGIN1 F-box only protein 32 FBXO32 114907 ENSG00000156804 Fbxo32 (MGI:1914981) -chr8 123680793 123737392 8q24.1-q24.2 8q24.13 602573 ANX13, ISA Annexin XIII ANXA13 312 ENSG00000104537 Anxa13 (MGI:1917037) -chr8 124306188 124372700 8q24.13 8q24.13 616609 TMEM65 Transmembrane protein 65 TMEM65 157378 ENSG00000164983 Tmem65 (MGI:1922118) -chr8 124450819 124453025 8q24.13 8q24.13 611244 TRMT12, TRM12 tRNA methyltransferase 12 homolog TRMT12 55039 ENSG00000183665 Trmt12 (MGI:1915510) -chr8 124474879 124488617 8q24.1 8q24.13 603046 RNF139, TRC8, RCA1 RING finger protein 139 RNF139 11236 ENSG00000170881 Renal cell carcinoma, 144700 (3) Rnf139 (MGI:1923091) -chr8 124488493 124540485 8q24.13 8q24.13 619364 TATDN1 TatD DNase domain-containing protein 1 TATDN1 83940 ENSG00000147687 Tatdn1 (MGI:1916944) -chr8 124539122 124549978 8q13.3 8q24.13 601445 NDUFB9, UQOR22, MC1DN24 NADH-ubiquinone oxidoreductase subunit B9 NDUFB9 4715 ENSG00000147684 mutation identified in 1 MC1DN24 family ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3), Autosomal recessive Ndufb9 (MGI:1913468) -chr8 124550783 124728472 8q24.1 8q24.13 608486 MTSS1, MIM, KIAA0429 Metastasis suppressor 1 MTSS1 9788 ENSG00000170873 Mtss1 (MGI:2384818) -chr8 124998504 125022282 8q24.1 8q24.13 602019 SQLE Squalene epoxidase SQLE 6713 ENSG00000104549 Sqle (MGI:109296) -chr8 125024259 125091795 8q24.13 8q24.13 610657 WASHC5, KIAA0196, SPG8, RTSC1 WASH complex, subunit 5 WASHC5 9897 ENSG00000164961 Ritscher-Schinzel syndrome 1, 220210 (3), Autosomal recessive; Spastic paraplegia 8, autosomal dominant, 603563 (3), Autosomal dominant Washc5 (MGI:2146110) -chr8 125091778 125367124 8q24.13 8q24.13 617246 NSMCE2, NSE2, MMS21 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase NSMCE2 286053 ENSG00000156831 Seckel syndrome 10, 617253 (3), Autosomal recessive Nsmce2 (MGI:1915751) -chr8 125430289 125438402 8q24.13 8q24.13 609461 TRIB1, TRB1, SKIP1, C8FW Tribbles pseudokinase 1 TRIB1 10221 ENSG00000173334 Trib1 (MGI:2443397) -chr8 126300000 130400000 8q24.21 613032 GLM7 Glioma susceptibility 7 101409265 associated with rs55705857 {Glioma susceptibility 7}, 613032 (2) -chr8 126552442 126558497 8q24.21 8q24.21 609483 FAM84B, BCMP101 Family with sequence similarity 84, member B LRATD2 157638 ENSG00000168672 Lratd2 (MGI:3026924) -chr8 127013153 127021013 8q24 8q24.21 616043 PCAT1 Prostate cancer-associated transcript 1, noncoding PCAT1 100750225 ENSG00000253438 -chr8 127072693 127082220 8q24.21 8q24.21 617678 PCAT2, PCA2, CARLO4 Prostate cancer-associated transcript 2, noncoding PCAT2 103164619 ENSG00000254166 -chr8 127079873 127092594 8q24 8q24.21 615452 PRNCR1, PCAT8 Prostate cancer-associated noncoding RNA 1 PRNCR1 101867536 ENSG00000282961 -chr8 127187784 127197626 8q24.21 8q24.21 617703 CASC19, LINC01245, CARLO6 Cancer susceptibility candidate 19, noncoding CASC19 103021165 -chr8 127207381 127219267 8q24.21 8q24.21 617705 CCAT1, CARLO5 Colon cancer-associated transcript 1, noncoding CCAT1 100507056 -chr8 127244636 127392630 8q24.21 8q24.21 617702 CASC21, LINC01244, CARLO2 Cancer susceptibility candidate 21, noncoding CASC21 103021164 -chr8 127289675 127482138 8q24.21 8q24.21 617701 CASC8, LINC00860, CARLO1 Cancer susceptibility candidate 8, noncoding CASC8 727677 ENSG00000246228 -chr8 127400398 127402149 8q24.21 8q24.21 619403 CCAT2 Colon cancer-associated transcript 2, noncoding CCAT2 101805488 ENSG00000280997 -chr8 127415824 127417209 8q24.21 8q24.21 615739 POU5F1B, POU5F1P1, OCT4PG1 POU domain, class 5, transcription factor 1B POU5F1B 5462 ENSG00000212993 Pou5f1 (MGI:101893) -chr8 127700607 127733966 8q24.21 8q24.21 617704 CASC11, LINC00990, CARLO7 Cancer susceptibility candidate 11, noncoding CASC11 100270680 ENSG00000249375 -chr8 127735433 127742950 8q24.12-q24.13 8q24.21 190080 MYC MYC protooncogene, bHLH transcription factor MYC 4609 ENSG00000136997 cen-5'-3'-ter Burkitt lymphoma, somatic, 113970 (3) Myc (MGI:97250) -chr8 127794532 128101252 8q24 8q24.21 165140 PVT1 Oncogene PVT-1 (MYC activator) PVT1 5820 ENSG00000249859 Pvt1 (MGI:97824) -chr8 129351693 129680238 8q24.21 8q24.21 613040 CCD26, RAM Coiled-coil domain-containing protein 26 CCDC26 137196 ENSG00000229140 -chr8 129705902 129786623 8q24.1-q24.2 8q24.21 608384 GSDMC, MLZE Gasdermin C GSDMC 56169 ENSG00000147697 Gsdmc,Gsdmc4,Gsdmc3,Gsdmc2 (MGI:1933176,MGI:3580656,MGI:1921798,MGI:2146102) -chr8 129839592 130017128 8q24 8q24.21 617978 FAM149B Family with sequence similarity 49, member B CYRIB 51571 ENSG00000153310 Cyrib (MGI:1923520) -chr8 130052103 130443847 8q24.1-q24.2 8q24.21-q24.22 605953 ASAP1, DDEF1 Arf GTPase-activating protein with SH3 domain, ankyrin repeat, and PH domain 1 ASAP1 50807 ENSG00000153317 Asap1 (MGI:1342335) -chr8 130780299 131041603 8q24.2 8q24.22 103070 ADCY8, ADCY3 Adenylyl cyclase-8, brain ADCY8 114 ENSG00000155897 Adcy8 (MGI:1341110) -chr8 131904092 132013641 8q24.2 8q24.22 611798 EFR3A, KIAA0143 EFR3, S. cerevisiae, homolog of, A EFR3A 23167 ENSG00000132294 Efr3a (MGI:1923990) -chr8 132024215 132059381 8q24 8q24.22 601658 OC90, PLA2L Otoconin 90 (phospholipase A2-like) OC90 729330 ENSG00000253117 PLA2L = fusion between HHLA1 and OC90 Oc90 (MGI:1313269) -chr8 132061479 132111156 8q24 8q24.22 604109 HHLA1 Human endogenous retrovirus-H long terminal repeat-associating 1 HHLA1 10086 ENSG00000132297 Hhla1 (MGI:3615329) -chr8 132120857 132481094 8q24 8q24.22 602232 KCNQ3, EBN2, BFNC2 Potassium voltage-gated channel, KQT-like subfamily, member 3 KCNQ3 3786 ENSG00000184156 Seizures, benign neonatal, 2, 121201 (3), Autosomal dominant Kcnq3 (MGI:1336181) -chr8 132570415 132685038 8q24.22 8q24.22 614930 LRRC6, LRTP, CILD19 Leucine-rich repeat-containing protein 6 DNAAF11 23639 ENSG00000129295 Ciliary dyskinesia, primary, 19, 614935 (3), Autosomal recessive Lrrc6 (MGI:1859553) -chr8 132866942 133134901 8q24.2-q24.3 8q24.22 188450 TG, AITD3, TDH3 Thyroglobulin TG 7038 ENSG00000042832 distal to MYC {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3); Thyroid dyshormonogenesis 3, 274700 (3), Autosomal recessive Tg (MGI:98733) -chr8 133036727 133103052 8q24.2-q24.3 8q24.22 601099 SLA Src-like-adaptor SLA 6503 ENSG00000155926 in intron of TG Sla (MGI:104295) -chr8 133054958 133057766 8q24 8q24.22 617440 PTCSC1, NCRNA00197 Papillary thyroid carcinoma susceptibility candidate 1 gene PTCSC1 100302522 ENSG00000287736 -chr8 133190906 133231689 8q24.1-q24.3 8q24.22 603398 CCN4, WISP1 Cellular communication netowrk factor 4 CCN4 8840 ENSG00000104415 Ccn4 (MGI:1197008) -chr8 133237174 133297251 8q24.3 8q24.22 605262 NDRG1, HMSNL, CMT4D N-myc downstream-regulated gene 1 NDRG1 10397 ENSG00000104419 Charcot-Marie-Tooth disease, type 4D, 601455 (3), Autosomal recessive Ndrg1 (MGI:1341799) -chr8 134477787 134713030 8q23-q24 8q24.22 610931 ZFAT1, ZNF406, AITD3 Zinc finger gene in autoimmune thyroid disease 1 ZFAT 57623 ENSG00000066827 {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3) Zfat (MGI:2681865) -chr8 134800519 134800606 8q24.22 8q24.22 619018 MIR30B Micro RNA 30B MIR30B 407030 ENSG00000207582 Mir30b (MGI:2676908) -chr8 134804875 134804944 8q24.22 8q24.22 619019 MIR30D Micro RNA 30D MIR30D 407033 ENSG00000199153 Mir30d (MGI:2676910) -chr8 135457455 135656515 8q24.2 8q24.23 610421 KHDRBS3, TSTAR, SALP, SLM2, ETOILE KH domain-containing, RNA-binding, signal transduction-associated protein 3 KHDRBS3 10656 ENSG00000131773 Khdrbs3 (MGI:1313312) -chr8 138588234 138914086 8q24.2 8q24.2-q24.3 610026 COL22A1 Collagen, type XXII, alpha-1 polypeptide COL22A1 169044 ENSG00000169436 Col22a1 (MGI:1916950) -chr8 138900000 145138636 8q24 612113 BMND10 Bone mineral density quantitative trait locus 10 100188883 associated with rs6469804 and rs6993813 [Bone mineral density QTL 10], 612113 (2) -chr8 138900000 145138636 8q24 610649 BSZQTL3 Bone size quantitative trait locus 3 100188815 [Bone size quantitative trait locus 3], 610649 (2) -chr8 138900000 145138636 8q24.3 616992 C8orf17, MOST1 Chromosome 8 open reading frame 17 C8orf17 100507249 -chr8 138900000 145138636 8q24 611469 CRCS2 Colorectal cancer, susceptibility to, 2 100188841 associated with rs7014346 {Colorectal cancer, susceptibility to, 2}, 611469 (2) -chr8 138900000 145138636 8q24 600131 ECA1 Epilepsy, childhood absence, 1 50966 Epilepsy, childhood absence, 1, 600131 (2), Autosomal dominant -chr8 138900000 145138636 8q24 600669 EIG1 Epilepsy, idiopathic generalized, susceptibility to 1 1957 ?same as EBN2 {Epilepsy, idiopathic generalized, susceptibility to, 1}, 600669 (2), Autosomal dominant -chr8 138900000 145138636 8q24 611100 HPC10 Prostate cancer, hereditary, 10 100188834 strongest assoc. with rs1447295 {Prostate cancer, hereditary, 10}, 611100 (2) -chr8 138900000 145138636 8q24 167959 HPV18I1 Human papillomavirus type 18 integration site-1 HPV18I1 3260 -chr8 138900000 145138636 8q24.3 612858 OFC12 Orofacial cleft 12 100302515 associated with rs987525 Orofacial cleft 12, 612858 (2) -chr8 139600837 139703134 8q24.1-q24.3 8q24.3 605874 KCNK9, TASK32, BIBARS Potassium channel, subfamily K, member 9 KCNK9 51305 ENSG00000169427 Birk-Barel syndrome, 612292 (3) Kcnk9 (MGI:3521816) -chr8 139727724 140458578 8q24.3 8q24.3 611966 TRAPPC9, NIBP, KIAA1882, MRT13 Trafficking protein particle complex 9 TRAPPC9 83696 ENSG00000167632 Mental retardation, autosomal recessive 13, 613192 (3), Autosomal recessive Trappc9 (MGI:1923760) -chr8 140511321 140517153 8q11-q12 8q24.3 607268 CHARC1, CHARC15, YCL1 Chromatin accessibility complex, subunit 1 CHRAC1 54108 ENSG00000104472 Chrac1 (MGI:2135796) -chr8 140520155 140642405 8q24 8q24.3 606229 AGO2, EIF2C2, LESKRES Argonaute RISC component 2 AGO2 27161 ENSG00000123908 Lessel-Kreienkamp syndrome, 619149 (3), Autosomal dominant Ago2 (MGI:2446632) -chr8 140657899 141002078 8q24-qter 8q24.3 600758 PTK2, FADK PTK2 protein tyrosine kinase PTK2 5747 ENSG00000169398 Ptk2 (MGI:95481) -chr8 141128561 141195803 8q24.3 8q24.3 617503 DENND3, KIAA0870 DENN domain-containing protein 3 DENND3 22898 ENSG00000105339 Dennd3 (MGI:2146009) -chr8 141356469 141367285 8q24.2-q24.3 8q24.3 601908 GPR20 G protein-coupled receptor-20 GPR20 2843 ENSG00000204882 Gpr20 (MGI:2441803) -chr8 141391994 141432453 8q24.3 8q24.3 606449 PTP4A3, PRL3 Protein-tyrosine phosphatase, type 4A, 3 PTP4A3 11156 ENSG00000184489 Ptp4a3 (MGI:1277098) -chr8 142449648 142545008 8q24 8q24.3 602682 ADGRB1, BAI1, GDAIF Adhesion G protein-coupled receptor B1 ADGRB1 575 ENSG00000181790 Adgrb1 (MGI:1933736) -chr8 142611048 142614478 8q24 8q24.3 612461 ARC, KIAA0278 Activity-regulated cytoskeleton-associated protein ARC 23237 ENSG00000198576 Arc (MGI:88067) -chr8 142651500 142669982 8q24 8q24.3 603210 JRK, JH8 JRK helix-turn-helix protein JRK 8629 ENSG00000234616 Jrk (MGI:106214) -chr8 142670296 142682724 8q24.2 8q24.3 602470 PSCA Prostate stem cell antigen PSCA 8000 ENSG00000167653 Psca (MGI:1919623) -chr8 142700080 142705126 8q24.3 8q24.3 615093 LY6K Lymphocyte antigen 6 complex, locus K LY6K 54742 ENSG00000160886 Ly6k (MGI:1923736) -chr8 142740948 142742405 8qter 8q24.3 606119 SLURP1, MDM Secreted LY6/uPAR-related protein 1 SLURP1 57152 ENSG00000126233 Meleda disease, 248300 (3), Autosomal recessive Slurp1 (MGI:1930923) -chr8 142771196 142777871 Chr.8 8q24.3 606110 LYNX1 Lynx1, mouse, homolog of LYNX1 66004 ENSG00000180155 Lynx1 (MGI:1345180) -chr8 142784881 142786538 8q24-qter 8q24.3 606204 LY6D, E48 Lymphocyte antigen 6 complex, locus D LY6D 8581 ENSG00000167656 ?pseudogene ono 15q22 Ly6d (MGI:96881) -chr8 142834800 142846850 8q24.3 8q24.3 602370 GML Glycosylphosphatidylinositol-anchored molecule-like protein GML 2765 ENSG00000104499 Gml,Gml2 (MGI:1341831,MGI:3644767) -chr8 142872356 142879824 8q21 8q24.3 610613 CYP11B1, P450C11, FHI Cytochrome P450, subfamily XIB, polypeptide 1 (11-beta-hydroxylase; corticosteroid methyl-oxidase II (CMO II)) CYP11B1 1584 ENSG00000160882 chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like Aldosteronism, glucocorticoid-remediable, 103900 (3), Autosomal dominant; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3), Autosomal recessive Cyp11b1,Cyp11b2 (MGI:88583,MGI:88584) -chr8 142910558 142917842 8q21 8q24.3 124080 CYP11B2 Cytochrome P450, subfamily XIB, polypeptide 2 CYP11B2 1585 ENSG00000179142 Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3), Autosomal recessive; Aldosterone to renin ratio raised (3); {Low renin hypertension, susceptibility to} (3); Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3), Autosomal recessive Cyp11b1,Cyp11b2 (MGI:88583,MGI:88584) -chr8 143018528 143022408 8q24.3 8q24.3 601384 LY6E, RIGE, SCA2 Lymphocyte antigen 6 complex, locus E (retinoic acid induced gene E) LY6E 4061 ENSG00000160932 Ly6e (MGI:106651) -chr8 143157915 143160653 8q24.3 8q24.3 603625 LY6H Lymphocyte antigen 6 complex, locus H LY6H 4062 ENSG00000176956 Ly6c1,Ly6i,Ly6f,Ly6h,Ly6a,Ly6c2 (MGI:1346030,MGI:3712069,MGI:107527,MGI:1888480,MGI:96882,MGI:109441) -chr8 143213217 143217169 8q24.3 8q24.3 612757 GPIHBP1, HYPL1D Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 GPIHBP1 338328 ENSG00000277494 Hyperlipoproteinemia, type 1D, 615947 (3), Autosomal recessive Gpihbp1 (MGI:1915703) -chr8 143267444 143276930 8q24.3 8q24.3 165280 GLI4, HKR4 GLI-Kruppel family member GLI4 (oncogene HKR4) GLI4 2738 ENSG00000250571 -chr8 143309323 143359976 8q24.3 8q24.3 606387 TOP1MT Topoisomerase I, mitochondrial TOP1MT 116447 ENSG00000184428 Top1mt (MGI:1920210) -chr8 143368826 143384220 8q24.3 8q24.3 601031 RHPN1, ODF5 Rhophilin 1 RHPN1 114822 ENSG00000158106 Rhpn1 (MGI:1098783) -chr8 143428063 143430731 8q24 8q24.3 610303 MAFA, RIPE3B1, INSDM MAF bZIP transcription factor A MAFA 389692 ENSG00000182759 Insulinomatosis and diabetes mellitus, 147630 (3), Autosomal dominant Mafa (MGI:2673307) -chr8 143437654 143549728 8q24.3 8q24.3 618640 ZC3H3, SMICL Zinc finger CCCH domain-containing protein 3 ZC3H3 23144 ENSG00000014164 Zc3h3 (MGI:2663721) -chr8 143553386 143563061 8q24.3 8q24.3 617042 GSDMD, GSDMDC1, DFNA5L Gasdermin D GSDMD 79792 ENSG00000104518 Gsdmd (MGI:1916396) -chr8 143574584 143578348 8q24.3 8q24.3 611552 NAPRT, NAPRT1 Nicotinate phosphoribosyltransferase NAPRT 93100 ENSG00000147813 Naprt (MGI:2442664) -chr8 143579727 143597421 8q24.3 8q24.3 130592 EEF1D, EF1D Eukaryotic translation elongation factor 1, delta EEF1D 1936 ENSG00000104529 Eef1d (MGI:1913906) -chr8 143603209 143609574 8q24.3 8q24.3 616408 PYCRL, PYCR3 Pyrroline-5-carboxylate reductase-like PYCR3 65263 ENSG00000104524 Pycrl (MGI:1913444) -chr8 143612617 143618042 8q24.3 8q24.3 137020 GFUS, TSTA3, FX GDP-L-fucose synthase GFUS 7264 ENSG00000104522 Gfus (MGI:98857) -chr8 143716304 143722457 8q24.3 8q24.3 618616 MAPK15, ERK8 Mitogen-activated protein kianse 15 MAPK15 225689 ENSG00000181085 Mapk15 (MGI:2652894) -chr8 143723932 143733778 8q24.3 8q24.3 611927 FAM83H, AI3A Family with sequence similarity 83, member H FAM83H 286077 ENSG00000180921 Amelogenesis imperfecta, type IIIA, 130900 (3), Autosomal dominant Fam83h (MGI:2145900) -chr8 143734138 143790701 8q24.3 8q24.3 618942 IQANK1, FAM83HAS1 IQ motif- and ankyrin repeat-containing protein 1 IQANK1 642574 ENSG00000203499 Iqank1 (MGI:3588184) -chr8 143790924 143815772 8q24.3 8q24.3 607733 SCRIB, SCRB1, KIAA0147 Scribble planar cell polarity protein SCRIB 23513 ENSG00000180900 Scrib (MGI:2145950) -chr8 143816343 143829314 8q24.3 8q24.3 604819 PUF60, FIR, SIAHBP1, VRJS Poly-U-binding splicing factor, 60kD PUF60 22827 ENSG00000179950 Verheij syndrome, 615583 (3), Autosomal dominant Puf60 (MGI:1915209) -chr8 143829775 143840973 8q24.3 8q24.3 615563 NRBP2 Nuclear receptor-binding protein 2 NRBP2 340371 ENSG00000185189 Nrbp2 (MGI:2385017) -chr8 143857318 143879042 8q24.3 8q24.3 607553 EPPK1 Epiplakin 1 EPPK1 83481 ENSG00000261150 Eppk1 (MGI:2386306) -chr8 143915152 143976799 8q24 8q24.3 601282 PLEC1, PLEC, PLTN, EBS1, LGMDR17, EBSOG, EBSPA, EBSMD, EBSND Plectin 1 PLEC 5339 ENSG00000178209 mutation identified in 1 EBSND family ?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3), Autosomal recessive; Epidermolysis bullosa simplex, Ogna type, 131950 (3), Autosomal dominant; Epidermolysis bullosa simplex with pyloric atresia, 612138 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723 (3), Autosomal recessive; Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3), Autosomal recessive Plec (MGI:1277961) -chr8 143945190 143945278 8q24.3 8q24.3 613716 MIR661, MIRN661 Micro RNA 661 MIR661 724031 ENSG00000207574 -chr8 143977157 143986459 8q24.3 8q24.3 609564 PARP10 Poly(ADP-ribose) polymerase 10 PARP10 84875 ENSG00000178685 Parp10 (MGI:3712326) -chr8 143990055 143993414 8q24.3 8q24.3 138251 GRINA, NMDARA1 Glutamate receptor, ionotropic, N-methyl GRINA 2907 ENSG00000178719 Grina (MGI:1913418) -chr8 144010991 144047113 8q24 8q24.3 610874 SPATC1 Spermatogenesis- and centriole-associated 1 (speriolin) SPATC1 375686 ENSG00000186583 Spatc1 (MGI:1921531) -chr8 144051265 144064025 8q24.3 8q24.3 614243 OPLAH, OPLAHD 5-oxoprolinase (ATP-hydrolyzing) OPLAH 26873 ENSG00000178814 5-oxoprolinase deficiency, 260005 (3), Autosomal dominant, Autosomal recessive Oplah (MGI:1922725) -chr8 144064060 144080647 8q24.3 8q24.3 606491 EXOSC4, RRP41 Exosome component 4 EXOSC4 54512 ENSG00000178896 Exosc4 (MGI:1923576) -chr8 144082633 144086215 8q24 8q24.3 603048 GPAA1, GAA1, GPIBD15 Glycophosphatidylinositol anchor attachment protein 1 GPAA1 8733 ENSG00000197858 Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive Gpaa1 (MGI:1202392) -chr8 144095075 144097524 8q24.3 8q24.3 123980 CYC1, MC3DN6 Cytochrome c1 CYC1 1537 ENSG00000179091 Mitochondrial complex III deficiency, nuclear type 6, 615453 (3), Autosomal recessive Cyc1 (MGI:1913695) -chr8 144098636 144104247 8q24.3 8q24.3 611885 SHARPIN, SIPL1 SHANK-associated RH domain interactor SHARPIN 81858 ENSG00000179526 Sharpin (MGI:1913331) -chr8 144104460 144107610 8q24.3 8q24.3 610210 MAF1 MAF1 homolog, negative regulator of RNA polymerase III MAF1 84232 ENSG00000179632 Maf1 (MGI:1916127) -chr8 144262044 144291437 8q24 8q24.3 610596 BOP1, KIAA0124 Block of proliferation 1 BOP1 23246 ENSG00000261236 Bop1 (MGI:1334460) -chr8 144265059 144268482 8q24.3 8q24.3 609067 SCX, SCXA, SCXB Scleraxis bHLH transcription factor SCX 642658 ENSG00000260428 Scx (MGI:102934) -chr8 144291602 144314719 8q24.3 8q24.3 140580 HSF1 Heat-shock transcription factor 1 HSF1 3297 ENSG00000185122 Hsf1 (MGI:96238) -chr8 144314583 144326851 8q24.3 8q24.3 604900 DGAT1, ARGP1, DIAR7 Diacylglycerol O-acyltransferase 1 DGAT1 8694 ENSG00000185000 mutation identified in 1 DIAR7 family ?Diarrhea 7, protein-losing enteropathy type, 615863 (3), Autosomal recessive Dgat1 (MGI:1333825) -chr8 144330564 144336481 8q24.3 8q24.3 605858 SCRT1 Scratch family transcriptional repressor 1 SCRT1 83482 ENSG00000261678 Scrt1 (MGI:2176606) -chr8 144355430 144358471 8q24.3 8q24.3 609076 FBXL6, FBL6, FBL6A F-box and leucine-rich repeat protein 6 FBXL6 26233 ENSG00000182325 Fbxl6 (MGI:1354705) -chr8 144358546 144361271 8q24.3 8q24.3 607882 SLC52A2, GPR172A, GPCR41, PAR1, FLJ11856, BVVLS2 Solute carrier family 52, riboflavin transporter, member 2 SLC52A2 79581 ENSG00000185803 Brown-Vialetto-Van Laere syndrome 2, 614707 (3), Autosomal recessive Slc52a2 (MGI:1289288) -chr8 144393230 144409399 8q24.3 8q24.3 606027 CPSF1, CPSF160, MYP27 Cleavage and polyadenylation specificity factor 1 CPSF1 29894 ENSG00000071894 Myopia 27, 618827 (3), Autosomal dominant Cpsf1 (MGI:2679722) -chr8 144412413 144417145 8q24.3 8q24.3 607059 SLC39A4, ZIP4 Solute carrier family 36 (zinc transporter), member 4 SLC39A4 55630 ENSG00000147804 Acrodermatitis enteropathica, 201100 (3), Autosomal recessive Slc39a4 (MGI:1919277) -chr8 144423616 144428547 8q24.3 8q24.3 611952 VPS28 VPS28 subunit of ESCRT-I VPS28 51160 ENSG00000160948 Vps28 (MGI:1914164) -chr8 144428774 144444487 8q24.3 8q24.3 604546 TONSL, NFKBIL2, IKBR, SEMDSP Tonsoku-like DNA repair protein TONSL 4796 ENSG00000160949 Spondyloepimetaphyseal dysplasia, sponastrime type, 271510 (3), Autosomal recessive Tonsl (MGI:1919999) -chr8 144449581 144465700 8q24.3 8q24.3 616635 CYHR1, KIAA0496 Cysteine- and histidine-rich protein 1 CYHR1 50626 ENSG00000187954 Cyhr1 (MGI:1859320) -chr8 144466245 144474201 8q24.3 8q24.3 615216 KIFC2 Kinesin family member C2 KIFC2 90990 ENSG00000167702 Kifc2 (MGI:109187) -chr8 144473411 144475848 8q24.3 8q24.3 603621 FAST1 Forkhead activin signal transducer 1, Xenopus, homolog of FOXH1 8928 ENSG00000160973 Foxh1 (MGI:1347465) -chr8 144503067 144507171 8q24.3 8q24.3 138200 GPT, GPT1, AAT1 Glutamic-pyruvate transaminase (alanine aminotransferase) GPT 2875 ENSG00000167701 Gpt (MGI:95802) -chr8 144511287 144517832 8q24.3 8q24.3 603780 RECQL4, RTS, RECQ4 DNA helicase, RecQ-like 4 RECQL4 9401 ENSG00000160957 Baller-Gerold syndrome, 218600 (3), Autosomal recessive; Rothmund-Thomson syndrome, type 2, 268400 (3), Autosomal recessive; RAPADILINO syndrome, 266280 (3), Autosomal recessive Recql4 (MGI:1931028) -chr8 144517964 144525171 8q24.3 8q24.3 619368 LRRC14, KIAA0014 Leucine-rich repeat-containing protein 14 LRRC14 9684 ENSG00000160959 Lrrc14 (MGI:2445060) -chr8 144529178 144700519 8q24.3 8q24.3 615880 ARHGAP39, VILSE, KIAA1688 RHO GTPase-activating protein 39 ARHGAP39 80728 ENSG00000147799 Arhgap39 (MGI:107858) -chr8 144772223 144787316 8q24.12-q24.13 8q24.3 194526 ZNF34, KOX32 Zinc finger protein-34 (KOX32) ZNF34 80778 ENSG00000196378 -chr8 144789768 144792389 8q 8q24.3 604177 RPL8 Ribosomal protein L8 RPL8 6132 ENSG00000161016 Rpl8 (MGI:1350927) -chr8 144827508 144848069 8q24 8q24.3 194531 ZNF7, KOX4 Zinc finger protein-7 (KOX4) ZNF7 7553 ENSG00000147789 Zfp7 (MGI:99208) -chr8 144837977 144853555 8q24.3 8q24.3 608216 COMMD5, HCARG COMM domain-containing protein 5 COMMD5 28991 ENSG00000170619 Commd5 (MGI:1913648) -chr8 144930357 144950879 8q24 8q24.3 601262 ZNF16, KOX9 Zinc finger protein-16 (KOX 9) ZNF16 7564 ENSG00000170631 -chr8 0 145138636 Chr.8 608392 AIS3, VAMAS4 Autoimmune disease, susceptibility to, 3 378427 {Autoimmune disease, susceptibility to, 3}, 608392 (2) -chr8 0 145138636 Chr.8 147860 IFNB3 Interferon, beta-3, fibroblast previously assigned to 2p23-qter -chr9 0 43000000 9p 158170 DEL9p, C9DELp Chromosome 9p deletion syndrome Chromosome 9p deletion syndrome, 158170 (4), Autosomal dominant -chr9 0 2200000 9p24.3 154230 DEL9p24.3, C9DELp24.3, SRXY4 Chromosome 9p24.3 deletion syndrome 46XY sex reversal 4, 154230 (4) -chr9 0 43000000 9p 606613 HDLCQ1 High density lipoprotein cholesterol level QTL 1 192144 [High density lipoprotein cholesterol level QTL 1], 606613 (2) -chr9 14474 30486 9p24.3 9p24.3 613632 WASHC1, WASH1 WASH complex, subunit 1 WASHC1 100287171 ENSG00000181404 pseudogenes on 1p, 15q, 16p, Xq/Yq Washc1 (MGI:1916017) -chr9 116230 118416 9q21.11 9p24.3 601092 FOXD4, FKHL9 Forkhead box D4 FOXD4 2298 ENSG00000170122 Foxd4 (MGI:1347467) -chr9 120836 179082 9p24.3 9p24.3 611078 CBWD1 Cobalamin synthetase W domain-containing protein 1 CBWD1 55871 ENSG00000172785 Cbwd1 (MGI:2385089) -chr9 211295 465259 9p24 9p24.3 611432 DOCK8 Dedicator of cytokinesis 8 DOCK8 81704 ENSG00000107099 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3), Autosomal recessive Dock8 (MGI:1921396) -chr9 470294 746103 9p24.3 9p24.3 607704 KANK1, KANK, ANKRD15, KIAA0172, CPSQ2 KN motif- and ankyrin repeat domain-containing protein 1 KANK1 23189 ENSG00000107104 Cerebral palsy, spastic quadriplegic, 2, 612900 (3) Kank1 (MGI:2147707) -chr9 841646 969089 9p24.3 9p24.3 602424 DMRT1, DMT1 Double sex and mab-3-related transcription factor-1 DMRT1 1761 ENSG00000137090 Dmrt1 (MGI:1354733) -chr9 976654 991731 9p24.3 9p24.3 614754 DMRT3, DMRTA3 Doublesex-and mab3-related transcription factor 3 DMRT3 58524 ENSG00000064218 Dmrt3 (MGI:2449470) -chr9 1003236 1057553 9p24.3 9p24.3 604935 DMRT2 Double sex and mab-3-related transcription factor-2 DMRT2 10655 ENSG00000173253 Dmrt2 (MGI:1330307) -chr9 2015346 2193623 9p24-p23 9p24.3 600014 SMARCA2, SNF2L2, NCBRS, BIS SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 SMARCA2 6595 ENSG00000080503 Nicolaides-Baraitser syndrome, 601358 (3), Autosomal dominant; Blepharophimosis-impaired intellectual development syndrome, 619293 (3), Autosomal dominant Smarca2 (MGI:99603) -chr9 2621785 2660055 9p24 9p24.2 192977 VLDLR, CAMRQ1 Very low density lipoprotein receptor VLDLR 7436 ENSG00000147852 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3), Autosomal recessive Vldlr (MGI:98935) -chr9 2717509 2730036 9p24.2 9p24.2 607604 KCNV2, KV11.1, RCD3B Potassium channel, voltage-gated, subfamily V, member 2 KCNV2 169522 ENSG00000168263 Retinal cone dystrophy 3B, 610356 (3), Autosomal recessive Kcnv2 (MGI:2670981) -chr9 2804151 2844094 9p24.2 9p24.2 609960 PUM3, KIAA0020, HLA-HA8 Pumilio RNA-binding family, member 3 PUM3 9933 ENSG00000080608 Pum3 (MGI:106253) -chr9 3218296 3526528 9p24.2 9p24.2 601337 RFX3 Regulatory factor X, 3 RFX3 5991 ENSG00000080298 Rfx3 (MGI:106582) -chr9 3824126 4310693 9p24.3-p23 9p24.2 610192 GLIS3, ZNF515, NDH GLIS family zinc finger protein 3 GLIS3 169792 ENSG00000107249 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3), Autosomal recessive Glis3 (MGI:2444289) -chr9 4490465 4587468 9p24 9p24.2 133550 SLC1A1, EAAC1, SCZD18, DCBXA Solute carrier family 1, member 1 (high-affinity glutamate transporter; excitatory amino acid carrier 1) SLC1A1 6505 ENSG00000106688 mutation identified in 1 SCZD18 family Dicarboxylic aminoaciduria, 222730 (3), Autosomal recessive; {?Schizophrenia susceptibility 18}, 615232 (3) Slc1a1 (MGI:105083) -chr9 4600000 19900000 9p24.1-p22.1 613271 FECD7, FCD4 Corneal dystrophy, Fuchs endothelial, 7 100380875 max lod at D9S256 Corneal dystrophy, Fuchs endothelial, 7, 613271 (2) -chr9 4600000 9000000 9p24 614113 MRD2 Mental retardation, autosomal dominant 2 2 patients reported with genomic deletion or rearrangement including disruption of DOCK8 Mental retardation, autosomal dominant 2, 614113 (4), Autosomal dominant -chr9 4600000 19900000 9p24-p22 610438 RLS3 Restless legs syndrome, susceptibility to, 3 100188812 associated with rs4626664 and rs1975197 {Restless legs syndrome 3}, 610438 (2) -chr9 4662293 4665257 9p24.1 9p24.1 611666 PLPP6, PPAPDC2 PPAP2 domain-containing protein 2 PLPP6 403313 ENSG00000205808 Plpp6 (MGI:1921661) -chr9 4679568 4708398 9p24.1 9p24.1 610346 CDC37L1, HARC, FLJ20639 CDC37-like 1 CDC37L1 55664 ENSG00000106993 Cdc37l1 (MGI:1914322) -chr9 4709555 4742042 9p24.1 9p24.1 609290 AK3, AK3L1 Adenylate kinase 3 AK3 50808 ENSG00000147853 Ak3 (MGI:1860835) -chr9 4792943 4861065 9p24.1 9p24.1 611405 RCL1, RPCL1, RNAC RNA terminal phosphate cyclase-like 1 RCL1 10171 ENSG00000120158 Rcl1 (MGI:1913275) -chr9 4850296 4850374 9p24.1 9p24.1 612512 MIR101-2, MIRN101-2 Micro RNA 101-2 MIR101-2 406894 ENSG00000199065 another locus, MIRN101-1, on 1p31 Mir101b (MGI:3618696) -chr9 4984389 5129947 9p24 9p24.1 147796 JAK2, THCYT3 Janus kinase 2 (a protein-tyrosine kinase) JAK2 3717 ENSG00000096968 {Budd-Chiari syndrome, somatic}, 600880 (3); Myelofibrosis, somatic, 254450 (3); Erythrocytosis, somatic, 133100 (3); Leukemia, acute myeloid, somatic, 601626 (3); Thrombocythemia 3, 614521 (3), Somatic mutation, Autosomal dominant; Polycythemia vera, somatic, 263300 (3) Jak2 (MGI:96629) -chr9 4992408 5185706 9p24 9p24.1 606414 INSL6 Insulin-like 6 INSL6 11172 ENSG00000120210 Insl6 (MGI:1351595) -chr9 5231418 5235303 9p24 9p24.1 600910 INSL4 Insulin-like 4, placenta INSL4 3641 ENSG00000120211 Rln1 (MGI:97931) -chr9 5299863 5339437 9pter-q12 9p24.1 179740 RLN2 Relaxin, H2 RLN2 6019 ENSG00000107014 Rln1 (MGI:97931) -chr9 5334929 5339875 9pter-q12 9p24.1 179730 RLN1 Relaxin, H1 RLN1 6013 ENSG00000107018 Rln1 (MGI:97931) -chr9 5357965 5438538 9p24.1 9p24.1 618444 PLGRKT Plasminogen receptor with C-terminal lysine PLGRKT 55848 ENSG00000107020 Plgrkt (MGI:1915009) -chr9 5450541 5470553 9p24 9p24.1 605402 CD274, PDCD1LG1, B7H1 CD274 molecule CD274 29126 ENSG00000120217 Cd274 (MGI:1926446) -chr9 5510437 5571281 9p24.2 9p24.1 605723 PDCD1L2, PDL2 Programmed cell death 1 ligand 2 PDCD1LG2 80380 ENSG00000197646 Pdcd1lg2 (MGI:1930125) -chr9 5629029 5778632 9p24.1 9p24.1 610354 RIC1, CIP150, KIAA1432, CATIFA RIC1 homolog, RAB6A GEF complex partner 1 RIC1 57589 ENSG00000107036 CATIFA syndrome, 618761 (3), Autosomal recessive Ric1 (MGI:1924893) -chr9 5764060 5867090 9p24 9p24.1 611156 ERMP1, KIAA1815, FXNA Endoplasmic reticulum metallopeptidase 1 ERMP1 79956 ENSG00000099219 Ermp1 (MGI:106250) -chr9 5890888 5910605 9p24.1 9p24.1 605513 MLANA, MART1 Melan A MLANA 2315 ENSG00000120215 Mlana (MGI:108454) -chr9 6214590 6257982 9p24.1 9p24.1 608678 IL33, C9orf26, NFEHEV Interleukin 33 IL33 90865 ENSG00000137033 Il33 (MGI:1924375) -chr9 6328369 6331890 9p24.1 9p24.1 617567 TPD52L3 Tumor protein D52-like 3 TPD52L3 89882 ENSG00000170777 Trpd52l3 (MGI:1913995) -chr9 6413147 6507055 9p24.1-p23 9p24.1 615211 UHRF2, NIRF Ubiquitin-like protein containing PDH and RING finger domains 2, E3 ubiquitin protein ligase UHRF2 115426 ENSG00000147854 Uhrf2 (MGI:1923718) -chr9 6532466 6645728 9p22 9p24.1 238300 GLDC, HYGN1, GCSP, GCE, NKH Glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P) GLDC 2731 ENSG00000178445 Glycine encephalopathy, 605899 (3), Autosomal recessive Gldc (MGI:1341155) -chr9 6720862 7175647 9p24.1 9p24.1 605469 KDM4C, JMJD2C, GASC1, KIAA0780 Lysine demethylase 4C KDM4C 23081 ENSG00000107077 Kdm4c (MGI:1924054) -chr9 7796499 7799777 9p24.1 9p24.1 617261 TMEM261, DMAC1, C9orf123 Transmembrane protein 261 DMAC1 90871 ENSG00000137038 Dmac1 (MGI:1914178) -chr9 8314245 10613001 9p24.3-p23 9p24-p23 601598 PTPRD, PTPD, HPTP Protein tyrosine phosphatase, receptor type, delta polypeptide PTPRD 5789 ENSG00000153707 Ptprd (MGI:97812) -chr9 9000000 28000000 9p23-p21.2 613685 DFNB83 Deafness, autosomal recessive 83 100359400 between rs4742645 and rs1471364 Deafness, autosomal recessive 83, 613685 (2), Autosomal recessive -chr9 9000000 43000000 9p23-p11 601992 FRDA2 Friedreich ataxia 2 2420 Friedreich ataxia 2, 601992 (2), Autosomal recessive -chr9 9000000 36300000 9p23-p13.3 614208 MRT16 Mental retardation, autosomal recessive 16 100689014 between rs10738277 and rs12376565 Mental retardation, autosomal recessive 16, 614208 (2), Autosomal recessive -chr9 12693374 12710284 9p23 9p23 115501 TYRP1, CAS2, GP75, SHEP11 Tyrosinase-related protein 1 TYRP1 7306 ENSG00000107165 [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3); Albinism, oculocutaneous, type III, 203290 (3), Autosomal recessive Tyrp1 (MGI:98881) -chr9 12774993 12823059 9p23 9p23 616130 LURAP1L, LRAP35B Leucine-rich adaptor protein 1-like LURAP1L 286343 ENSG00000153714 Lurap1l (MGI:106510) -chr9 13105295 13279691 9p23 9p23 603785 MPDZ, MUPP1, HYC2 Multiple PDZ domain protein MPDZ 8777 ENSG00000107186 Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3), Autosomal recessive Mpdz (MGI:1343489) -chr9 14081842 14532076 9p24.1 9p-p 600728 NFIB, MACID Nuclear factor I/B NFIB 4781 ENSG00000147862 Macrocephaly, acquired, with impaired intellectual development, 618286 (3), Autosomal dominant Nfib (MGI:103188) -chr9 14588796 14693431 9p22.3 9p22.3 614605 ZDHHC21, DHHC21 Zinc finger DHHC domain-containing protein 21 ZDHHC21 340481 ENSG00000175893 Zdhhc21 (MGI:1915518) -chr9 14715081 14724307 9p22 9p22.3 603777 CER1 Cerebrus 1, Xenopus, homolog of CER1 9350 ENSG00000147869 Cer1 (MGI:1201414) -chr9 14734665 14911652 9p22.3 9p22.3 608944 FREM1, C9orf154, BNAR, MOTA, TRIGNO2 FRAS1-related extracellular matrix protein 1 FREM1 158326 ENSG00000164946 Manitoba oculotrichoanal syndrome, 248450 (3), Autosomal recessive; Bifid nose with or without anorectal and renal anomalies, 608980 (3); Trigonocephaly 2, 614485 (3), Autosomal dominant Frem1 (MGI:2670972) -chr9 15163621 15307359 9p22.3 9p22.3 613574 TTC39B Tetratricopeptide repeat domain 39B TTC39B 158219 ENSG00000155158 Ttc39b (MGI:1917113) -chr9 15422808 15466748 9p22.3 9p22.3 602348 SNAPC3, SNAP50 Small nuclear RNA-activating protein complex, polypeptide 3 SNAPC3 6619 ENSG00000164975 Snapc3 (MGI:1916338) -chr9 15464065 15511003 9p22.2 9p22.3 603620 PSIP1, LEDGF PC4- and SFRS1-interacting protein 1 PSIP1 11168 ENSG00000164985 Psip1 (MGI:2142116) -chr9 16409502 16870669 9p22.1 9p22.3-p22.2 608669 BNC2, LUTO Basonuclin 2 BNC2 54796 ENSG00000173068 Lower urinary tract obstruction, congenital, 618612 (3), Autosomal dominant Bnc2 (MGI:2443805) -chr9 17134990 17510019 9p22.2 9p22.2 611870 CNTLN, C9orf101, C9orf39 Centlein CNTLN 54875 ENSG00000044459 Cntln (MGI:2443104) -chr9 17579065 17797123 9p22 9p22.2 604465 SH3GL2, SH3P4 SH3 domain, GRB2-like, 2 SH3GL2 6456 ENSG00000107295 Sh3gl2 (MGI:700009) -chr9 17906514 18910949 9p22.1-p21.2 9p22.2-p22.1 609198 ADAMTSL1 ADAMTS-like protein 1 ADAMTSL1 92949 ENSG00000178031 Adamtsl1 (MGI:1924989) -chr9 18500000 19900000 9p22.1 609790 AD11 Alzheimer disease 11 100188795 between D9S157 and D9S259 Alzheimer disease-11, 609790 (2) -chr9 18500000 33200000 9p22-p21 608652 DFNA47, DFNB83 Deafness, autosomal dominant 47 246289 between D9S268 and D9S942; possibly allelic to DFNB83 Deafness, autosomal dominant 47, 608652 (2), Autosomal dominant -chr9 18500000 33200000 9p22-p21 247640 LALL Lymphomatous acute lymphoblastic leukemia 8009 Leukemia, acute lymphoblastic, 247640 (2), Autosomal recessive -chr9 18927649 19049505 9p22.1 9p22.1 616292 SAXO1, FAM154A Stabilizer of axonemal microtubules 1 SAXO1 158297 ENSG00000155875 Saxo1 (MGI:1923061) -chr9 19049426 19051024 9p22.1 9p22.1 612194 RRAGA, RAGA, FIP1 Ras-related GTP-binding protein A RRAGA 10670 ENSG00000155876 Rraga (MGI:1915691) -chr9 19053140 19102903 9p22.1 9p22.1 613433 HAUS6, DGT6, FAM29A HAUS, augmin-like complex, subunit 6 HAUS6 54801 ENSG00000147874 Haus6 (MGI:1923389) -chr9 19063655 19063785 9p22.1 9p22.1 615646 SCARNA8 Small Cajal body-specific RNA 8 SCARNA8 677776 ENSG00000251733 -chr9 19108390 19127517 9p22.1 9p22.1 103195 PLIN2 Perilipin 2 PLIN2 123 ENSG00000147872 Plin2 (MGI:87920) -chr9 19375714 19380235 9p21 9p22.1 180460 RPS6 Ribosomal protein S6 RPS6 6194 ENSG00000137154 Rps6-ps4,Rps6 (MGI:3650907,MGI:98159) -chr9 19408926 19455172 9p22.1 9p22.1 613492 ACER2 Alkaline ceramidase 2 ACER2 340485 ENSG00000177076 Acer2 (MGI:1920932) -chr9 19507451 20307887 9p22 9p22.1-p21.3 609838 SLC24A2, NCKX2 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 SLC24A2 25769 ENSG00000155886 Slc24a2 (MGI:1923626) -chr9 19900000 25600000 9p21.3 613030 GLM5 Glioma susceptibility 5 100415894 associated with rs4977756 {Glioma susceptibility 5}, 613030 (2) -chr9 20341668 20622498 9p22 9p21.3 159558 MLLT3, AF9 Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 3 MLLT3 4300 ENSG00000171843 fuses with ALL1 Mllt3 (MGI:1917372) -chr9 20658308 20995952 9p21.3 9p21.3 614606 FOCAD, KIAA1797 Focadhesin FOCAD 54914 ENSG00000188352 Focad (MGI:2676921) -chr9 20999508 21031711 9p21.3 9p21.3 615941 PTPLAD2, HACD4 Protein tyrosine phosphatase-like A domain-containing protein 2 HACD4 401494 ENSG00000188921 Hacd4 (MGI:1914025) -chr9 21077103 21077941 9p21 9p21.3 147640 IFNB1 Interferon, beta-1, fibroblast IFNB1 3456 ENSG00000171855 distal to IFL; ?9p23-p22; IFF duplicate in some Ifnb1 (MGI:107657) -chr9 21140631 21141831 9p21 9p21.3 147553 IFNW1 Interferon, omega-1 IFNW1 3467 ENSG00000177047 pseudogene IFNWP2; interspersed with IFNA Gm13283,Gm13271,Ifnz,Gm13287,Gm13276,Gm13275 (MGI:3701970,MGI:3649573,MGI:3701983,MGI:3701972,MGI:3701966,MGI:2448469) -chr9 21165636 21166659 9p22 9p21.3 147584 IFNA21 Interferon, alpha-21 IFNA21 3452 ENSG00000137080 Ifnab,Ifna4,Ifna13,Ifna14,Ifna5,Ifna6,Ifna11,Ifna7,Ifna12,Ifna1,Ifna2,Ifna15,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:107663,MGI:2676324,MGI:3641425,MGI:107664,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155) -chr9 21186617 21187681 9p22 9p21.3 147564 IFNA4 Interferon, alpha-4 IFNA4 3441 ENSG00000236637 Ifnab,Ifna4,Ifna13,Ifna14,Ifna5,Ifna6,Ifna11,Ifna7,Ifna12,Ifna1,Ifna2,Ifna15,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:107663,MGI:2676324,MGI:3641425,MGI:107664,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155) -chr9 21201468 21202204 9p22 9p21.3 147567 IFNA7 Interferon, alpha-7 IFNA7 3444 ENSG00000214042 Ifnab,Ifna4,Ifna13,Ifna14,Ifna5,Ifna6,Ifna11,Ifna7,Ifna12,Ifna1,Ifna2,Ifna15,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:107663,MGI:2676324,MGI:3641425,MGI:107664,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155) -chr9 21206180 21207142 9p22 9p21.3 147577 IFNA10 Interferon, alpha-10 IFNA10 3446 ENSG00000186803 Ifnab,Ifna4,Ifna13,Ifna14,Ifna5,Ifna6,Ifna11,Ifna7,Ifna12,Ifna1,Ifna2,Ifna15,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:107663,MGI:2676324,MGI:3641425,MGI:107664,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155) -chr9 21216372 21217310 9p22 9p21.3 147580 IFNA16 Interferon, alpha-16 IFNA16 3449 ENSG00000147885 Ifnab,Ifna4,Ifna13,Ifna14,Ifna5,Ifna6,Ifna11,Ifna7,Ifna12,Ifna1,Ifna2,Ifna15,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:107663,MGI:2676324,MGI:3641425,MGI:107664,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155) -chr9 21227242 21228221 9p22 9p21.3 147583 IFNA17 Interferon, alpha-17 IFNA17 3451 ENSG00000234829 Ifnab,Ifna4,Ifna13,Ifna14,Ifna5,Ifna6,Ifna11,Ifna7,Ifna12,Ifna1,Ifna2,Ifna15,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:107663,MGI:2676324,MGI:3641425,MGI:107664,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155) -chr9 21239001 21240004 9p22 9p21.3 147579 IFNA14 Interferon, alpha-14 IFNA14 3448 ENSG00000228083 Ifnab,Ifna4,Ifna13,Ifna14,Ifna5,Ifna6,Ifna11,Ifna7,Ifna12,Ifna1,Ifna2,Ifna15,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:107663,MGI:2676324,MGI:3641425,MGI:107664,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155) -chr9 21304325 21305312 9p22 9p21.3 147565 IFNA5 Interferon, alpha-5 IFNA5 3442 ENSG00000147873 Ifna4,Ifna13,Ifna14,Ifna11,Ifna12,Ifna15,Ifnab,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:3649260,MGI:2676324,MGI:3641425,MGI:107664,MGI:2667155,MGI:109210,MGI:1097683) -chr9 21329664 21335403 9p21.3 9p21.3 611201 KLHL9, KIAA1354 Kelch-like 9 KLHL9 55958 ENSG00000198642 Klhl9 (MGI:2180122) -chr9 21350317 21350886 9p22 9p21.3 147566 IFNA6 Interferon, alpha-6 IFNA6 3443 ENSG00000120235 Ifnab,Ifna4,Ifna13,Ifna14,Ifna5,Ifna6,Ifna11,Ifna7,Ifna12,Ifna1,Ifna2,Ifna15,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:107663,MGI:2676324,MGI:3641425,MGI:107664,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155) -chr9 21367371 21368056 9p22 9p21.3 147578 IFNA13 Interferon, alpha-13 IFNA13 3447 ENSG00000233816 Ifna13,Ifna5,Ifna6,Ifna7,Ifna2 (MGI:107666,MGI:107661,MGI:107662,MGI:107663,MGI:2667155) -chr9 21384254 21385397 9p22 9p21.3 147562 IFNA2 Interferon, alpha-2 IFNA2 3440 ENSG00000188379 Ifnab,Ifna4,Ifna13,Ifna14,Ifna5,Ifna6,Ifna11,Ifna7,Ifna12,Ifna1,Ifna2,Ifna15,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:107663,MGI:2676324,MGI:3641425,MGI:107664,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155) -chr9 21409116 21410184 9p22 9p21.3 147568 IFNA8 Interferon, alpha-8 IFNA8 3445 ENSG00000120242 Ifnab,Ifna4,Ifna13,Ifna14,Ifna5,Ifna6,Ifna11,Ifna7,Ifna12,Ifna1,Ifna2,Ifna15,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:107666,MGI:107668,MGI:107661,MGI:107662,MGI:107663,MGI:2676324,MGI:3641425,MGI:107664,MGI:109210,MGI:1097683,MGI:3649260,MGI:2667155) -chr9 21440438 21441315 9p22 9p21.3 147660 IFNA1, IFNA@ Interferon, alpha-1 IFNA1 3439 ENSG00000197919 very close to IFF by Fd, LD; 15-30 genes Interferon, alpha, deficiency (1) Ifna4,Ifna13,Ifna14,Ifna11,Ifna12,Ifna1,Ifna15,Ifnab,Ifna16,Ifna9 (MGI:107659,MGI:3649418,MGI:3649260,MGI:107668,MGI:2676324,MGI:3641425,MGI:107664,MGI:2667155,MGI:109210,MGI:1097683) -chr9 21454267 21559797 9p21.3 9p21.3 616356 MIR31HG, LOC554202 Micro RNA 31 host gene, noncoding MIR31HG 554202 ENSG00000171889 -chr9 21480838 21482312 9p21 9p21.3 615223 IFNE, INFE1, IFNT1 Interferon, epsilon IFNE 338376 ENSG00000184995 Ifne (MGI:2667156) -chr9 21512114 21512184 9p21.3 9p21.3 612155 MIR31, MIRN31 Micro RNA 31 MIR31 407035 ENSG00000199177 Mir31 (MGI:3619330) -chr9 21802635 21867080 9p21 9p21.3 156540 MTAP, DMSMFH Methylthioadenosine phosphorylase MTAP 4507 ENSG00000099810 Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3), Autosomal dominant Mtap (MGI:1914152) -chr9 21967751 21995323 9p21 9p21.3 600160 CDKN2A, MTS1, P16, MLM, CMM2 Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4) CDKN2A 1029 ENSG00000147889 {Melanoma and neural system tumor syndrome}, 155755 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 2}, 155601 (3), Autosomal dominant; {Melanoma-pancreatic cancer syndrome}, 606719 (3), Autosomal dominant Cdkn2a (MGI:104738) -chr9 21994790 22121096 9p21 9p21.3 613149 CDKN2BAS, ANRIL CDKN2B antisense RNA CDKN2B-AS1 100048912 ENSG00000240498 -chr9 22002902 22009312 9p21 9p21.3 600431 CDKN2B, MTS2, P15, INK4B Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) CDKN2B 1030 ENSG00000147883 tandem with MTS1 Cdkn2b (MGI:104737) -chr9 22446823 22455739 9p21.3 9p21.3 614803 DMRTA1, DMRT4 Doublesex- and MAB3-related transcription factor A1 DMRTA1 63951 ENSG00000176399 Dmrta1 (MGI:2653627) -chr9 23690098 23850600 9p21 9p21.3 601673 ELAVL2, HELN1, HUB ELAV-like RNA binding protein 2 (Hu antigen B) ELAVL2 1993 ENSG00000107105 Elavl2 (MGI:1100887) -chr9 24542951 24545929 9p21.3 9p21.3 618896 IZUMO3 IZUMO family, member 3 IZUMO3 100129669 ENSG00000205442 Izumo3 (MGI:1916564) -chr9 25600000 28000000 9p21.2 617651 EMICER1 EQTN, MOB3B, IFNK, and C9orf72 enhancer RNA I, noncoding -chr9 25676968 25678443 9p21 9p21.2 610529 TUSC1, TSG9 Tumor suppressor candidate 1 TUSC1 286319 ENSG00000198680 Tusc1 (MGI:2684283) -chr9 26903371 26947266 9p21.2 9p21.2 603873 PLAA, PLAP, NDMSBA Phospholipase A2-activating protein PLAA 9373 ENSG00000137055 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive Plaa (MGI:104810) -chr9 26947109 27066133 9p21.2 9p21.2 608040 IFT74, CCDC2, CMG1, BBS22 Intraflagellar transport 74 IFT74 80173 ENSG00000096872 mutation identified in 1 BBS22 patient ?Bardet-Biedl syndrome 22, 617119 (3), Autosomal recessive Ift74 (MGI:1914944) -chr9 26993135 27005671 9p21.2 9p21.2 619068 LRRC19 Leucine-rich repeat-containing protein 19 LRRC19 64922 ENSG00000184434 Lrrc19 (MGI:2140219) -chr9 27109140 27230177 9p21 9p21.2 600221 TEK, TIE2, VMCM, GLC3E TEK tyrosine kinase, endothelial TEK 7010 ENSG00000120156 Venous malformations, multiple cutaneous and mucosal, 600195 (3), Autosomal dominant; Glaucoma 3, primary congenital, E, 617272 (3), Autosomal dominant Tek (MGI:98664) -chr9 27284653 27297149 9p21.2 9p21.2 617653 EQTN, AFAF, SPACA8, C9orf11 Equatorin EQTN 54586 ENSG00000120160 Eqtn (MGI:1915003) -chr9 27325208 27529813 9p21.2 9p21.2 617652 MOB3B, MOB1D, MOBKL2B, C9orf35 MOB kinase activator 3B MOB3B 79817 ENSG00000120162 Mob3b (MGI:2664539) -chr9 27524289 27526497 9p21.2 9p21.2 615326 IFNK Interferon, kappa IFNK 56832 ENSG00000147896 Ifnk (MGI:2683287) -chr9 27546545 27573865 9p21 9p21.2 614260 C9orf72, FTDALS1, FTDALS, ALSFTD Chromosome 9 open reading frame 72 C9orf72 203228 ENSG00000147894 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3), Autosomal dominant C9orf72 (MGI:1920455) -chr9 27937616 29215242 9p21.2-p21.1 9p21.2-p21.1 609793 LRRN6C, LINGO2, LERN3 Leucine-rich repeat protein, neuronal, 6C LINGO2 158038 ENSG00000174482 Lingo2 (MGI:2442298) -chr9 28000000 33200000 9p21 611891 AAA3 Aneurysm, familial abdominal 3 100188857 associated with rs10757278 {Aneurysm, familial abdominal 3}, 611891 (2) -chr9 28000000 33200000 9p21 611892 ANIB6 Aneurysm, intracranial berry, 6 100188858 associated with rs10757278 {Aneurysm, intracranial berry, 6}, 611892 (2) -chr9 28000000 33200000 9p21 613062 BCC5 Basal cell carcinoma, susceptibility to, 5 100307122 associated with rs2151280 {Basal cell carcinoma, susceptibility to, 5}, 613062 (2) -chr9 28000000 33200000 9p21 611139 CHDS8 Coronary heart disease, susceptibility to, 8 100188836 strongest linkage with dbSNP rs1333049 {Coronary heart disease, susceptibility to, 8}, 611139 (2) -chr9 28000000 33200000 9p21 612099 MFT2, TEM Trichoepithelioma, multiple familial, 2 100188881 max lod at D9S171 Trichoepithelioma, multiple familial, 2, 612099 (2) -chr9 28888878 28888954 9p21.1 9p21.1 616137 MIR873 Micro RNA 873 MIR873 100126316 ENSG00000215939 Mir873a (MGI:3718563) -chr9 32384642 32454768 9p21.2 9p21.1 100880 ACO1, IREB1 Aconitase, soluble (iron-responsive element-binding protein-1) ACO1 48 ENSG00000122729 Aco1 (MGI:87879) -chr9 32455301 32526195 9p21.1 9p21.1 609631 DDX58, RIGI, SGMRT2 DExD/H-box helicase 58 DDX58 23586 ENSG00000107201 Singleton-Merten syndrome 2, 616298 (3), Autosomal dominant Ddx58 (MGI:2442858) -chr9 32540543 32552585 9p21 9p21.1 609507 TOPORS, P53BP3, LUN, RP31 Topoisomerase I-binding arginine/serine-rich protein TOPORS 10210 ENSG00000197579 Retinitis pigmentosa 31, 609923 (3) Topors (MGI:2146189) -chr9 32553000 32573158 9p21.1 9p21.1 603322 NDUFB6 NADH-ubiquinone oxidoreductase subunit B6 NDUFB6 4712 ENSG00000165264 Ndufb6 (MGI:2684983) -chr9 32629453 32635668 9p21.1 9p21.1 607798 TAF1L TATA box-binding protein-associated factor 1-like TAF1L 138474 ENSG00000122728 Taf1 (MGI:1336878) -chr9 32883871 33025119 9p13.3 9p21.1 606350 APTX, AOA, AOA1 Aprataxin APTX 54840 ENSG00000137074 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3), Autosomal recessive Aptx (MGI:1913658) -chr9 33025272 33039906 9p21.1 9p21.1 602837 DNAJA1, HSDJ, HSPF4 DNAJ/HSP40 homolog, subfamily A, member 1 DNAJA1 3301 ENSG00000086061 Dnaja1 (MGI:1270129) -chr9 33041764 33076704 9p21.1 9p21.1 617811 SMU1 DNA replication regulator and spliceosomal factor SMU1 SMU1 55234 ENSG00000122692 Smu1 (MGI:1915546) -chr9 33104076 33167335 9p13 9p21.1 137060 B4GALT1, GGTB2, GT1, GTB, CDG2D Glycoprotein-4-beta-galactosyltransferase-2 (EC 2.4.1.22) B4GALT1 2683 ENSG00000086062 Congenital disorder of glycosylation, type IId, 607091 (3), Autosomal recessive B4galt1 (MGI:95705) -chr9 33240166 33248566 9p13.3 9p13.3 613929 SPINK4, PEC60 Serine protease inhibitor, Kazal-type, 4 SPINK4 27290 ENSG00000122711 Spink4 (MGI:1341848) -chr9 33252470 33264707 9p12 9p13.3 601497 BAG1 BAG cochaperone 1 BAG1 573 ENSG00000107262 Bag1 (MGI:108047) -chr9 33265048 33282069 9p13.3 9p13.3 610900 CHMP5 Charged multivesicular body protein 5 CHMP5 51510 ENSG00000086065 Chmp5 (MGI:1924209) -chr9 33290474 33371156 9p13.3 9p13.3 603255 NFX1 Nuclear transcription factor, X box-binding, protein 1 NFX1 4799 ENSG00000086102 Nfx1 (MGI:1921414) -chr9 33383134 33402676 9p13 9p13.3 602974 AQP7, GLYCQTL Aquaporin-7 AQP7 364 ENSG00000165269 [Glycerol quantitative trait locus], 614411 (3), Autosomal recessive Aqp7 (MGI:1314647) -chr9 33441153 33447595 9p13 9p13.3 600170 AQP3 Aquaporin-3 AQP3 360 ENSG00000165272 incorrectly mapped to chr.7 [Blood group GIL], 607457 (3) Aqp3 (MGI:1333777) -chr9 33460810 33473923 9p13 9p13.3 611532 NOL6, NRAP Nucleolar protein 6 NOL6 65083 ENSG00000165271 Nol6 (MGI:2140151) -chr9 33524250 33575441 9p13.3 9p13.3 618930 ANKRD18B Ankyrin repeat domain-containing protein 18B ANKRD18B 441459 ENSG00000230453 Ankrd36 (MGI:1923639) -chr9 33673503 33677419 9p13.3 9p13.3 613531 PTENP1 Phosphatase and tensin homolog pseudogene 1 (functional) PTENP1 11191 ENSG00000237984 -chr9 33750521 33799230 9p13 9p13.3 613578 PRSS3, TRY3, T9 Protease, serine, 3 PRSS3 5646 ENSG00000010438 Gm5771,Prss1,Prss2,Try5,Prss3,Try4,Try10 (MGI:98839,MGI:3687012,MGI:102758,MGI:102759,MGI:102756,MGI:3646222,MGI:102757) -chr9 33817159 33920398 9p22.1 9p13.3 612506 UBE2R2, UBC3B Ubiquitin-conjugating enzyme E2R 2 UBE2R2 54926 ENSG00000107341 Ube2r2 (MGI:1914865) -chr9 34179004 34252522 9p22-p21 9p13.3 609787 UBAP1, UBAP, SPG80 Ubiquitin-associated protein 1 UBAP1 51271 ENSG00000165006 Spastic paraplegia 80, autosomal dominant, 618418 (3), Autosomal dominant Ubap1 (MGI:2149543) -chr9 34252032 34333519 9p13.3 9p13.3 613747 KIF24 Kinesin family member 24 KIF24 347240 ENSG00000186638 Kif24 (MGI:1918345) -chr9 34329568 34343712 9p13 9p13.3 602852 NUDT2, APAH1 Nudix-type motif 1 (AP4A hydrolase-1) NUDT2 318 ENSG00000164978 Nudt2 (MGI:1913651) -chr9 34366148 34376951 9p13.3 9p13.3 618255 MYORG, NET37, KIAA1161, IBGC7 Myogenesis-regulating glycosidase MYORG 57462 ENSG00000164976 Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317 (3), Autosomal recessive Myorg (MGI:2140300) -chr9 34378462 34397941 9p13.3 9p13.3 619502 C9orf24, CBE1 Chromosome 9 open reading frame 24 C9orf24 84688 ENSG00000164972 -chr9 34458804 34520983 9p13.3 9p13.3 604366 DNAI1, CILD1, ICS, PCD Dynein, axonemal, intermediate chain 1 DNAI1 27019 ENSG00000122735 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3), Autosomal recessive Dnai1 (MGI:1916172) -chr9 34521042 34522989 9p13.3 9p13.3 618556 ENHO Energy homeostasis-associated protein ENHO 375704 ENSG00000168913 Enho (MGI:1916888) -chr9 34551431 34590385 9p13 9p13.3 118946 CNTFR Ciliary neurotrophic factor receptor CNTFR 1271 ENSG00000122756 Cntfr (MGI:99605) -chr9 34613545 34620517 9p13 9p13.3 607387 DCTN3, DCTN22 Dynactin 3 DCTN3 11258 ENSG00000137100 Dctn3 (MGI:1859251) -chr9 34634721 34637786 9p13 9p13.3 601978 SIGMAR1, SRBP, ALS16, DSMA2 Sigma nonopioid intracellular receptor 1 SIGMAR1 10280 ENSG00000147955 mutation identified in 1 ALS16 family and 1 DSMA2 family ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3), Autosomal recessive; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3), Autosomal recessive Sigmar1 (MGI:1195268) -chr9 34646674 34651034 9p13 9p13.3 606999 GALT Galactose-1-phosphate uridyltransferase GALT 2592 ENSG00000213930 Galactosemia, 230400 (3), Autosomal recessive Galt (MGI:95638) -chr9 34652184 34661901 9p13 9p13.3 600939 IL11RA, CRSDA Interleukin-11 receptor, alpha IL11RA 3590 ENSG00000137070 Craniosynostosis and dental anomalies, 614188 (3), Autosomal recessive Il11ra1 (MGI:107426) -chr9 34661889 34662656 9p13 9p13.3 604833 CCL27, SCYA27, ILC, CTACK Chemokine, C-C motif, ligand 27 CCL27 10850 ENSG00000213927 Ccl27b,Ccl27a (MGI:1891389,MGI:1343459) -chr9 34689569 34691275 9p13 9p13.3 602227 CCL19, SCYA19, ELC, MIP3B Chemokine, C-C motif, ligand 19 CCL19 6363 ENSG00000172724 Ccl19 (MGI:1346316) -chr9 34709004 34710135 9p13 9p13.3 602737 CCL21, SCYA21, SLC Chemokine, C-C motif, ligand 21 CCL21 6366 ENSG00000137077 Gm13304,Ccl21b,Ccl21a (MGI:1349183,MGI:1349182,MGI:3710514) -chr9 34989744 34998899 9p13.3 9p13.3 611328 DNAJB5, KIAA1045, HSC40 DNAJ/HSP40 homolog, subfamily B, member 5 DNAJB5 25822 ENSG00000137094 Dnajb5 (MGI:1930018) -chr9 35056063 35072624 9p13-p12 9p13.3 601023 VCP, IBMPFD1, CMT2Y, FTDALS6 Valosin-containing protein VCP 7415 ENSG00000165280 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, 613954 (3); Charcot-Marie-Tooth disease, type 2Y, 616687 (3), Autosomal dominant; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3), Autosomal dominant Vcp (MGI:99919) -chr9 35073838 35079941 9p13 9p13.3 602956 XRCC9, FANCG X-ray repair cross complementing 9 (FA complementation group G) FANCG 2189 ENSG00000221829 Fanconi anemia, complementation group G, 614082 (3), Autosomal recessive Fancg (MGI:1926471) -chr9 35085495 35096590 9p13 9p13.3 614730 PIGO, HPMRS2 Phosphatidylinositol glycan, class O PIGO 84720 ENSG00000165282 Hyperphosphatasia with mental retardation syndrome 2, 614749 (3), Autosomal recessive Pigo (MGI:1861452) -chr9 35099775 35103194 9p13.1 9p13.3 608292 STOML2 Stomatin-like protein 2 STOML2 30968 ENSG00000165283 Stoml2 (MGI:1913842) -chr9 35162008 35405336 9p13.3 9p13.3 605836 UNC13B, UNC13, MUNC13 unc-13 homolog B UNC13B 10497 ENSG00000198722 Unc13b (MGI:1342278) -chr9 35490110 35561897 9p13.1 9p13.3 611053 RUSC2, KIAA0375, IPORIN, MRT61 RUN and SH3 domain-containing 2 RUSC2 9853 ENSG00000198853 Mental retardation, autosomal recessive 61, 617773 (3), Autosomal recessive Rusc2 (MGI:2140371) -chr9 35605261 35610032 9p13 9p13.3 601782 TESK1 Testis-associated actin-modeling kinase 1 TESK1 7016 ENSG00000107140 Tesk1 (MGI:1201675) -chr9 35609980 35618426 9p 9p13.3 107272 CD72, LYB2 CD72 antigen CD72 971 ENSG00000137101 Cd72 (MGI:88345) -chr9 35649294 35650930 9p13-p12 9p13.3 604964 SIT SHP2-interacting transmembrane adaptor protein SIT1 27240 ENSG00000137078 Sit1 (MGI:1889342) -chr9 35657750 35658017 9p21-p12 9p13.3 157660 RMRP, RMRPR, CHH Mitochondrial RNA-processing endoribonuclease RMRP 6023 ENSG00000269900 Anauxetic dysplasia 1, 607095 (3), Autosomal recessive; Metaphyseal dysplasia without hypotrichosis, 250460 (3), Autosomal recessive; Cartilage-hair hypoplasia, 250250 (3), Autosomal recessive Rmrp (MGI:97937) -chr9 35673808 35681158 9p13.3 9p13.3 603179 CA9, MN Carbonic anhydrase IX CA9 768 ENSG00000107159 previously assigned to 17q21.2 Car9 (MGI:2447188) -chr9 35681992 35690055 9p13.2-p13.1 9p13.3 190990 TPM2, TMSB, AMCD1, DA1, DA2B4, NEM4 Tropomyosin-2, beta TPM2 7169 ENSG00000198467 Arthrogryposis, distal, type 2B4, 108120 (3), Autosomal dominant; Arthrogryposis, distal, type 1A, 108120 (3), Autosomal dominant; Nemaline myopathy 4, autosomal dominant, 609285 (3), Autosomal dominant; CAP myopathy 2, 609285 (3), Autosomal dominant Tpm2 (MGI:98810) -chr9 35696947 35732194 9p 9p13.3 186745 TLN1 Talin 1 TLN1 7094 ENSG00000137076 Tln1 (MGI:1099832) -chr9 35732665 35736998 9p13.3 9p13.3 606443 CREB3, LZIP cAMP response element-binding protein 3 CREB3 10488 ENSG00000107175 Creb3 (MGI:99946) -chr9 35736861 35749227 9p13.3 9p13.3 609471 GBA2, KIAA1605, SPG46 Glucosidase, beta, acid 2 GBA2 57704 ENSG00000070610 Spastic paraplegia 46, autosomal recessive, 614409 (3), Autosomal recessive Gba2 (MGI:2654325) -chr9 35749286 35758584 9p13.3 9p13.3 615742 RGP1, KIAA0258 RGP1 retrograde golgi transport, S. cerevisiae, homolog of RGP1 9827 ENSG00000107185 Rgp1 (MGI:1915956) -chr9 35752989 35754275 9p13.3 9p13.3 612191 MSMP, PSMP Microseminoprotein, prostate-associated MSMP 692094 ENSG00000215183 Msmp (MGI:3652339) -chr9 35782085 35809730 9p21-p12 9p13.3 108961 NPR2, ANPRB, AMDM, ECDM, SNSK Natiuretic peptide receptor 2 NPR2 4882 ENSG00000159899 Acromesomelic dysplasia, Maroteaux type, 602875 (3), Autosomal recessive; Epiphyseal chondrodysplasia, Miura type, 615923 (3), Autosomal dominant; Short stature with nonspecific skeletal abnormalities, 616255 (3), Autosomal dominant Npr2 (MGI:97372) -chr9 35807784 35812271 9p13-p12 9p13.3 605731 SPAG8, SMP1 Sperm-associated antigen 8 SPAG8 26206 ENSG00000137098 Spag8 (MGI:3056295) -chr9 35812959 35815478 9p11.2 9p13.3 609997 HINT2 Histidine triad nucleotide-binding protein 2 HINT2 84681 ENSG00000137133 Hint2 (MGI:1916167) -chr9 35825816 35865514 9p13.3 9p13.3 616888 TMEM8B, NGX6, NAG5 Transmembrane protein 8B TMEM8B 51754 ENSG00000137103 Tmem8b (MGI:2441680) -chr9 35909489 35911685 9p13.3 9p13.3 617627 SPAAR, LINC00961 Small regulatory polypeptide of amino acid response SPAAR 158376 ENSG00000235387 Spaar (MGI:1918656) -chr9 36036904 36124454 9p13-p12 9p13.3 605227 RECK, ST15 Reversion-inducing cysteine-rich protein with kazal motifs (suppressor of tumorigenicity 15) RECK 8434 ENSG00000122707 Reck (MGI:1855698) -chr9 36136535 36163912 9p13.3 9p13.3 607141 GLIPR2, GAPR1, C9orf19 GLI pathogenesis-related 2 GLIPR2 152007 ENSG00000122694 Glipr2 (MGI:1917770) -chr9 36169387 36171333 9p13.3 9p13.3 603960 CCIN Calicin CCIN 881 ENSG00000185972 Ccin (MGI:3045316) -chr9 36190854 36212058 9p13.3 9p13.3 118960 CLTA Clathrin, light polypeptide (Lca) CLTA 1211 ENSG00000122705 previously mapped to 12q23-q24 Clta (MGI:894297) -chr9 36214440 36277055 9p13.3 9p13.3 603824 GNE, GLCNE, IBM2, DMRV, NM UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase GNE 10020 ENSG00000159921 Sialuria, 269921 (3), Autosomal dominant; Nonaka myopathy, 605820 (3), Autosomal recessive Gne (MGI:1354951) -chr9 36336397 36487383 9p13 9p13.2 612488 RNF38 Ring finger protein 38 RNF38 152006 ENSG00000137075 Rnf38 (MGI:1920719) -chr9 36572869 36677681 Chr.9 9p13.2 607025 MELK, KIAA0175 Maternal embryonic leucine zipper kinase MELK 9833 ENSG00000165304 Melk (MGI:106924) -chr9 36833268 37034267 9p13 9p13.2 167414 PAX5, BSAP, ALL3 Paired box homeotic gene-5 (B-cell lineage specific activator protein) PAX5 5079 ENSG00000196092 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3) Pax5 (MGI:97489) -chr9 37422434 37438951 9cen 9p13.2 604296 GRHPR, GLXR Glyoxylate reductase/hydroxypyruvate reductase GRHPR 9380 ENSG00000137106 Hyperoxaluria, primary, type II, 260000 (3), Autosomal recessive Grhpr (MGI:1923488) -chr9 37438101 37465449 9p13.2 9p13.2 616590 ZBTB5, KIAA0354 Zinc finger- and BTB domain-containing protein 5 ZBTB5 9925 ENSG00000168795 Zbtb5 (MGI:1924601) -chr9 37510891 37576379 9p13.1 9p13.2 609092 FBXO10, FBX10 F-box only protein 10 FBXO10 26267 ENSG00000147912 Fbxo10 (MGI:2686937) -chr9 37588412 37592596 9p13.2 9p13.2 616169 TOMM5, TOM5 Translocase of outer mitochondrial membrane 5 TOMM5 401505 ENSG00000175768 Tomm5 (MGI:1915762) -chr9 37603228 37746903 9p13.2 9p13.2 616919 FRMPD1, FRMD2, KIAA0967 FERM and PDZ domains-containing protein 1 FRMPD1 22844 ENSG00000070601 Frmpd1 (MGI:2446274) -chr9 37779713 37785091 9p13.2 9p13.2 606489 EXOSC3, RRP40, PCH1B Exosome component 3 EXOSC3 51010 ENSG00000107371 Pontocerebellar hypoplasia, type 1B, 614678 (3), Autosomal recessive Exosc3 (MGI:1913612) -chr9 37877574 37904126 9p13.3-p13.1 9p13.2-p13.1 619153 SLC25A51, MCART1 Solute carrier family 25 (mitochondrial carrier, NAD+ transporter), member 51 SLC25A51 92014 ENSG00000122696 Slc25a51 (MGI:2684984) -chr9 37900000 69300000 9p13.1-q21.11 612096 OTSC8 Otosclerosis 8 100151644 between D9S970 and D9S1799 Otosclerosis 8, 612096 (2), Autosomal dominant -chr9 37900000 39000000 9p13 609403 PEE3 Preeclampsia/eclampsia 3 780909 Preeclampsia/eclampsia 3, 609403 (2) -chr9 37915897 38069226 9p12-p11 9p13.1 600314 SHB SHB adaptor protein (a Src homology 2 protein) SHB 6461 ENSG00000107338 Shb (MGI:98294) -chr9 38392701 38398664 9p13 9p13.1 100670 ALDH1B1, ALDH5 Aldehyde dehydrogenase 1 family, member B1 ALDH1B1 219 ENSG00000137124 Aldh1b1 (MGI:1919785) -chr9 38406527 38424453 9p13.1 9p13.1 610413 IGFBPL1, IGFBPRP4 Insulin-like growth factor binding protein-like 1 IGFBPL1 347252 ENSG00000137142 Igfbpl1 (MGI:1933198) -chr9 39000000 61500000 9p12-q12 605388 ACP Cerebral palsy, ataxic, autosomal recessive 60502 Cerebral palsy, ataxic, autosomal recessive, 605388 (2), Autosomal recessive -chr9 39064709 39288166 9p13.1 9p12 610517 CNTNAP3, KIAA1714 Contactin-associated protein-like 3 CNTNAP3 79937 ENSG00000106714 Cntnap3 (MGI:3588199) -chr9 42200000 43000000 9p11 155900 MROS Melkersson-Rosenthal syndrome 8011 ?Melkersson-Rosenthal syndrome, 155900 (2), Autosomal dominant -chr9 43000000 138394717 9q 609320 HCHGQ2 Hematocrit/hemoglobin quantitative trait locus 2 100381205 [Hematocrit/hemoglobin quantitative trait locus 2], 609320 (2) -chr9 43000000 138394717 9q 607152 SPG19 Spastic paraplegia-19 140907 Spastic paraplegia 19, autosomal dominant, 607152 (2), Autosomal dominant -chr9 45500000 61500000 9q12 126330 DNCM Cytoplasmic membrane DNA 1784 in 9qh -chr9 61190035 61196279 9q12 9q12 616584 SPATA31A7, AEP1, FAM75A7, C9orf36 Spermatogenesis-associated protein 31, subfamily A, member 7 SPATA31A7 26165 ENSG00000276040 Spata31 (MGI:1925374) -chr9 61500000 65000000 9q13 600884 CMD1B, CMPD1, FDC Cardiomyopathy, dilated-1B, autosomal dominant 1218 Cardiomyopathy, dilated 1B, 600884 (2), Autosomal dominant -chr9 61500000 99800000 9q13-q22 605749 CTRCT26, CAAR Cataract 26, multiple types 81863 Cataract 26, multiple types, 605749 (2) -chr9 61500000 87800000 9q13-q21 190100 GSM1, GSP Geniospasm 1 2933 Geniospasm, 190100 (2), Autosomal dominant -chr9 65000000 69300000 9q21.11 613558 DFNA51, C9DUPq21.11, DUP9q21.11 Deafness, autosomal dominant 51 (chromosome 9q21.11 duplication syndrome) 259kb duplication involving TJP2 and FAM189A2 Deafness, autosomal dominant 51, 613558 (4), Autosomal dominant -chr9 65737145 65738395 9p11.2 9q21.11 611085 FOXD4L4, FOXD4L2 Forkhead box D4-like 4 FOXD4L4 349334 ENSG00000184659 Foxd4 (MGI:1347467) -chr9 66900724 66932140 9q21.11 9q21.11 616290 ZNF658 Zinc finger protein 658 ZNF658 26149 ENSG00000274349 -chr9 68241865 68300034 9q13 9q21.11 611080 CBWD3 Cobalamin synthetase W domain-containing protein 3 CBWD3 445571 ENSG00000196873 Cbwd1 (MGI:2385089) -chr9 68302866 68305083 9q13 9q21.11 611086 FOXD4L3 Forkhead box D4-like 3 FOXD4L3 286380 ENSG00000187559 Foxd4 (MGI:1347467) -chr9 68356583 68531060 9p12-q12 9q21.11 600981 PGM5 Phosphoglucomutase-5 PGM5 5239 ENSG00000154330 Pgm5 (MGI:1925668) -chr9 68705239 69009175 9q13 9q21.11 602745 PIP5K1B, STM7, MSS4 Phosphatidylinositol-4-phosphate 5-kinase, type I, beta PIP5K1B 8395 ENSG00000107242 Pip5k1b (MGI:107930) -chr9 68780064 68785565 9q21.1 9q21.11 617249 FAM122A, C9orf42 Family with sequence similarity 122, member A PABIR1 116224 ENSG00000187866 Fam122a (MGI:1915284) -chr9 69012503 69014112 9q21.11 9q21.11 176893 PRKACG, BDPLT19 Protein kinase, cAMP-dependent, catalytic, gamma PRKACG 5568 ENSG00000165059 mutation identified in 1 BDPLT19 family ?Bleeding disorder, platelet-type, 19, 616176 (3), Autosomal recessive -chr9 69035751 69079075 9q13 9q21.11 606829 FXN, FRDA, FARR, X25 Frataxin FXN 2395 ENSG00000165060 Friedreich ataxia with retained reflexes, 229300 (3), Autosomal recessive; Friedreich ataxia, 229300 (3), Autosomal recessive Fxn (MGI:1096879) -chr9 69121005 69255207 9q12-q13 9q21.11 607709 TJP2, ZO2, PFIC4, FHCA1 Tight junction protein 2 TJP2 9414 ENSG00000119139 Hypercholanemia, familial 1, 607748 (3), Autosomal recessive; Cholestasis, progressive familial intrahepatic 4, 615878 (3), Autosomal recessive Tjp2 (MGI:1341872) -chr9 69324566 69392460 9q13-q21 9q21.12 607710 X123 X123 gene FAM189A2 9413 ENSG00000135063 Fam189a2 (MGI:2685813) -chr9 69427531 69673011 9q21.11-q21.12 9q21.12 602414 APBA1, X11, D9S411E, MINT1, LIN10 Amyloid beta A4 precursor protein-binding, family A, member 1 APBA1 320 ENSG00000107282 Apba1 (MGI:1860297) -chr9 70043580 70226971 9q21.11 9q21.12 612879 MAMDC2 MAM domain-containing 2 MAMDC2 256691 ENSG00000165072 Mamdc2 (MGI:1918988) -chr9 70258961 70354872 9q21.11 9q21.12 609386 SMC5L1, SMC5, KIAA0594 Structural maintenance of chromosomes 5-like 1 SMC5 23137 ENSG00000198887 Smc5 (MGI:2385088) -chr9 70384603 70414656 9q13 9q21.12 602902 BTEB1, BTEB Basic transcription element-binding protein 1 KLF9 687 ENSG00000119138 Klf9 (MGI:1333856) -chr9 70529059 71446970 9q21.12 9q21.12-q21.13 608961 TRPM3, MLSN2, LTRPC3, KIAA1616 Transient receptor potential cation channel, subfamily M, member 3 TRPM3 80036 ENSG00000083067 Trpm3 (MGI:2443101) -chr9 70809974 70810083 9q21.11 9q21.12 610942 MIR204, MIRN204, RDICC Micro RNA 204 MIR204 406987 ENSG00000207935 mutation identified in 1 RDICC family ?Retinal dystrophy and iris coloboma with or without cataract, 616722 (3), Autosomal dominant Mir204 (MGI:2676879) -chr9 71683365 71769531 9q13-q21 9q21.13 605835 TMEM2 Transmembrane protein 2 CEMIP2 23670 ENSG00000135048 Cemip2 (MGI:1890373) -chr9 71862451 71911535 9q21.13 9q21.13 617943 ABHD17B, FAM108B1 Abhydrolase domain-containing protein 17B, depalmitoylase ABHD17B 51104 ENSG00000107362 Abhd17b (MGI:1917816) -chr9 72114594 72256044 9q21.13 9q21.13 139260 GDA, CYPIN Guanine deaminase GDA 9615 ENSG00000119125 Gda (MGI:95678) -chr9 72351412 72365207 9q13-q21 9q21.13 604761 ZFAND5, ZNF216 Zinc finger AN1 domain-containing protein 5 ZFAND5 7763 ENSG00000107372 Zfand5 (MGI:1278334) -chr9 72521607 72838296 9q13-q21 9q21.13 606706 TMC1, DFNB7, DFNB11, DFNA36 Transmembrane channel-like protein 1 TMC1 117531 ENSG00000165091 Deafness, autosomal dominant 36, 606705 (3), Autosomal dominant; Deafness, autosomal recessive 7, 600974 (3), Autosomal recessive Tmc1 (MGI:2151016) -chr9 72900670 72953052 9q21 9q21.13 100640 ALDH1A1 Aldehyde dehydrogenase-1 family, member A1, soluble ALDH1A1 216 ENSG00000165092 Aldh1a1,Aldh1a7 (MGI:1347050,MGI:1353450) -chr9 73151864 73170392 9q11-q22 9q21.13 151690 ANXA1, LPC1 Annexin A1 (lipocortin I) ANXA1 301 ENSG00000135046 Anxa1 (MGI:96819) -chr9 74497334 74693176 9q22 9q21.13 601972 RORB, RZRB, EIG15 RAR-related orphan receptor B RORB 6096 ENSG00000198963 {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 (3), Autosomal dominant Rorb (MGI:1343464) -chr9 74722494 74887920 9q22 9q21.13 607009 TRPM6, CHAK2, HOMG1 Transient receptor potential cation channel, subfamily M, member 6 TRPM6 140803 ENSG00000119121 Hypomagnesemia 1, intestinal, 602014 (3), Autosomal recessive Trpm6 (MGI:2675603) -chr9 74980789 75028455 9q21.13 9q21.13 616552 CARNMT1, C9orf41, UPF0586 Carnosine N-methyltransferase 1 CARNMT1 138199 ENSG00000156017 Carnmt1 (MGI:1914633) -chr9 75060576 75088318 9q21.13 9q21.13 608704 NMRK1, C9orf95 Nicotinamide riboside kinase 1 NMRK1 54981 ENSG00000106733 Nmrk1 (MGI:2147434) -chr9 75088479 75147264 9q21.13 9q21.13 610180 OSTF1, OSF, SH3P2 Osteoclast-stimulating factor 1 OSTF1 26578 ENSG00000134996 Ostf1 (MGI:700012) -chr9 75890645 76362974 9q21.3 9q21.13 600488 PCSK5 Proprotein convertase subtilisin/kexin type 5 PCSK5 5125 ENSG00000099139 ?close to LPC1 on 9q Pcsk5 (MGI:97515) -chr9 76385525 76394425 9q21.1 9q21.13 613010 RFK Riboflavin kinase RFK 55312 ENSG00000135002 Rfk (MGI:1914688) -chr9 76441665 76507415 9q13 9q21.13 600391 GCNT1 Glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) GCNT1 2650 ENSG00000187210 Gcnt1 (MGI:95676) -chr9 76611375 76906219 9p13 9q21.2 610691 PRUNE2, BMCC1, KIAA0367 PRUNE, Drosophila, homolog of, 2 PRUNE2 158471 ENSG00000106772 Prune2 (MGI:1925004) -chr9 76764435 76787568 9q21-q22 9q21.2 604845 PCA3, DD3 Prostate cancer antigen 3 PCA3 50652 ENSG00000225937 -chr9 77177533 77421536 9q21 9q21.2 605978 VPS13A, CHAC Vacuolar protein sorting 13 homolog A (chorein) VPS13A 23230 ENSG00000197969 Choreoacanthocytosis, 200150 (3), Autosomal recessive Vps13a (MGI:2444304) -chr9 77423078 77648321 9q21 9q21.2 604397 GNA14 Guanine nucleotide-binding protein, alpha-14 GNA14 9630 ENSG00000156049 Gna14 (MGI:95769) -chr9 77716096 78031810 9q21 9q21.2 600998 GNAQ, SWS, CMC1 Guanine nucleotide-binding protein (G protein), q GNAQ 2776 ENSG00000156052 pseudogene on 2q Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3); Sturge-Weber syndrome, somatic, mosaic, 185300 (3) Gnaq (MGI:95776) -chr9 78236074 78279689 9q21.2 9q21.2 617110 CEP78, CRDHL Centrosomal protein, 78kD CEP78 84131 ENSG00000148019 Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive Cep78 (MGI:1924386) -chr9 78297124 78330092 9q21.31 9q21.2 610936 PSAT1, PSAT, EPIP, PSATD, NLS2 Phosphoserine aminotransferase 1 PSAT1 29968 ENSG00000135069 mutation identified in 1 PSATD family Neu-Laxova syndrome 2, 616038 (3), Autosomal recessive; ?Phosphoserine aminotransferase deficiency, 610992 (3), Autosomal recessive Psat1 (MGI:2183441) -chr9 79571964 79726881 9q21.31 9q21.31 605132 TLE4, ESG4, GRG4 TLE family member 4, transcriptional corepressor TLE4 7091 ENSG00000106829 Tle4 (MGI:104633) -chr9 81583682 81689546 9q21.32 9q21.32 600189 TLE1, ESG1, GRG1 TLE family member 1, transcriptional corepressor TLE1 7088 ENSG00000196781 conflicting assignment to chr.19 Tle1 (MGI:104636) -chr9 82979588 83063171 9q21.32 9q21.32 611344 RASEF RAS and EF-hand domains-containing protein RASEF 158158 ENSG00000165105 Rasef (MGI:2448565) -chr9 83242991 83585796 9q21-q22 9q21.32 607619 FRMD3, EPB41LO FERM domain-containing 3 FRMD3 257019 ENSG00000172159 Frmd3 (MGI:2442466) -chr9 83622323 83644127 9q21.32 9q21.32 611343 IDNK, C9orf103 IDNK gluconokinase IDNK 414328 ENSG00000148057 Idnk (MGI:1922981) -chr9 83659967 83707978 9q21.2-q21.3 9q21.32 605046 UBQLN1, DA41 Ubiquilin 1 (Da41, rat, homolog of) UBQLN1 29979 ENSG00000135018 Ubqln1 (MGI:1860276) -chr9 83739420 83817768 9q21.32 9q21.32 611356 GKAP1, GKAP42 G kinase-anchoring protein 1 GKAP1 80318 ENSG00000165113 Gkap1 (MGI:1891694) -chr9 83832794 83921543 9q21.32 9q21.32 611253 KIF27 Kinesin family member 27 KIF27 55582 ENSG00000165115 Kif27 (MGI:1922300) -chr9 83938310 83956985 9q21.32 9q21.32 611342 C9orf64 Chromosome 9 open reading frame 64 C9orf64 84267 ENSG00000165118 2210016F16Rik (MGI:1917403) -chr9 83968082 83980629 9q21.32-q21.33 9q21.32 600712 HNRNPK, HNRPK, AUKS Heterogeneous nuclear ribonucleoprotein K HNRNPK 3190 ENSG00000165119 Au-Kline syndrome, 616580 (3), Autosomal dominant Hnrnpk (MGI:99894) -chr9 83969747 83969856 9q21.32 9q21.32 615239 MIR7-1 Micro RNA 7-1 MIR7-1 407043 ENSG00000284179 Mir7-1 (MGI:3619436) -chr9 83980358 84004073 9q21.32 9q21.32 610404 RMI1, BLAP75, C9orf76 RecQ-mediated genome instability 1, S. cerevisiae, homolog of RMI1 80010 ENSG00000178966 Rmi1 (MGI:1921636) -chr9 84273122 84368726 9q22.2 9q21.32-q21.33 608269 SLC28A3, CNT3 Solute carrier family (sodium-coupled nucleoside transporter), member 3 SLC28A3 64078 ENSG00000197506 Slc28a3 (MGI:2137361) -chr9 84300000 99800000 9q21-q22 611631 ETL4, ETOLM Epilepsy, familial temporal lobe, 4 100144434 between GATA152H04 and D9S253 Epilepsy, familial temporal lobe, 4, 611631 (2), Autosomal dominant -chr9 84300000 99800000 9q21.3-q22 267700 FHL1, HPLH1, HLH1 Hemophagocytic lymphohistiocytosis, familial, 1 27259 Hemophagocytic lymphohistiocytosis, familial, 1, 267700 (2), Autosomal recessive -chr9 84300000 87800000 9q21 613088 PVOP2 Pelvic organ prolapse, susceptibility to, 2 100312955 between rs4077632 and rs10868525 {Pelvic organ prolapse, susceptibility to, 2}, 613088 (2) -chr9 84668457 85027069 9q21.33 9q21.33 600456 NTRK2, TRKB, OBHD, DEE58 Neurotrophic tyrosine kinase, receptor, type 2 NTRK2 4915 ENSG00000148053 Developmental and epileptic encephalopathy 58, 617830 (3), Autosomal dominant; Obesity, hyperphagia, and developmental delay, 613886 (3), Autosomal dominant Ntrk2 (MGI:97384) -chr9 85546538 85742028 9q21.33 9q21.33 606830 AGTPBP1, NNA1, KIAA1035, CCP1, CONDCA ATP/GTP-binding protein 1 AGTPBP1 23287 ENSG00000135049 Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 (3), Autosomal recessive Agtpbp1 (MGI:2159437) -chr9 85941141 86026354 9q21.33 9q21.33 619438 NAA35, MAK10 N-alpha-acetyltransferase 35, NatC auxiliary subunit NAA35 60560 ENSG00000135040 Naa35 (MGI:1925939) -chr9 86026145 86100148 9q21.33 9q21.33 606804 GOLM1, GOLPH2, GP73, C9orf155 Golgi membrane protein 1 GOLM1 51280 ENSG00000135052 Golm1 (MGI:1917329) -chr9 86264545 86282537 9q21.2-q22.1 9q21.33 611006 ISCA1, HBLD2, HISCA, MMDS5 Iron-sulfur cluster assembly 1 ISCA1 81689 ENSG00000135070 Multiple mitochondrial dysfunctions syndrome 5, 617613 (3), Autosomal recessive Isca1,AK157302 (MGI:1916296,MGI:3574096) -chr9 86287732 86354496 9q21.33 9q21.33 613467 TUT6, ZCCHC6, KIAA1711 Terminal uridylyl transferase 7 TUT7 79670 ENSG00000083223 Tut7 (MGI:2387179) -chr9 86944361 86947505 9q21.3-q22.1 9q21.33 139185 GAS1 Growth arrest-specific gene-1 GAS1 2619 ENSG00000180447 Gas1 (MGI:95655) -chr9 87497227 87708633 9q34.1 9q21.33 600831 DAPK1 Death-associated protein kinase-1 DAPK1 1612 ENSG00000196730 Dapk1 (MGI:1916885) -chr9 87726118 87731468 9q21-q22 9q21.33 116880 CTSL Cathepsin L CTSL 1514 ENSG00000135047 \'like\' sequence on 10q23-q24 Ctsr,Cts3,BC051665,Cts6,4930486L24Rik,Cts7,Cts8,Ctsj,Ctsl,Ctsm,Ctsll3,Ctsq (MGI:88564,MGI:1860262,MGI:2682300,MGI:1860275,MGI:1349426,MGI:1917452,MGI:1861723,MGI:1889619,MGI:2151929,MGI:1927229,MGI:2137385,MGI:1922258) -chr9 87966440 87974707 9q22.1 9q22.1 610076 CDK20, CCRK, CDCH, P42 Cyclin-dependent kinase 20 CDK20 23552 ENSG00000156345 Cdk20 (MGI:2145349) -chr9 88388443 88478693 9q22.1-q22.3 9q22.1 609936 SPIN, SPIN1 Spindlin SPIN1 10927 ENSG00000106723 Spin1 (MGI:109242) -chr9 88535087 88584509 9q22.1 9q22.1 615299 NXNL2, RDCVF2 Nucleoredoxin-like protein 2 NXNL2 158046 ENSG00000130045 Nxnl2 (MGI:1922374) -chr9 88990862 89005154 9q22.1-q22.2 9q22.1 601965 S1PR3, EDG3 Sphingosine-1-phosphate receptor 3 S1PR3 1903 ENSG00000213694 S1pr3 (MGI:1339365) -chr9 89005770 89178817 9q22.1 9q22.1 605263 SHC3, NSHC, RAI, SHCC SHC transforming protein 3 SHC3 53358 ENSG00000148082 Shc3 (MGI:106179) -chr9 89311194 89316702 9q22.2 9q22.2 116901 CKS2 CDC2-associated protein CKS2 CKS2 1164 ENSG00000123975 Cks2 (MGI:1913447) -chr9 89318499 89367116 9q22.2 9q22.2 607693 SECISBP2, SBP2 Selenocysteine insertion sequence-binding protein 2 SECISBP2 79048 ENSG00000187742 Thyroid hormone metabolism, abnormal, 609698 (3), Autosomal recessive Secisbp2 (MGI:1922670) -chr9 89360786 89498112 9q22.2 9q22.2 601866 SEMA4D, SEMAJ, CD100, COLL4 Semaphorin 4D SEMA4D 10507 ENSG00000187764 Sema4d (MGI:109244) -chr9 89605008 89606554 9q22.1-q22.2 9q22.2 604949 GADD45G, GRP17 Growth arrest- and DNA damage-inducible gene 45, gamma GADD45G 10912 ENSG00000130222 Gadd45g (MGI:1346325) -chr9 90609831 90642823 9q22.2 9q22.2 607863 DIRAS2 DIRAS family, GTP-binding Ras-like protein 2 DIRAS2 54769 ENSG00000165023 Diras2 (MGI:1915453) -chr9 90801599 90898548 9q22 9q22.2 600085 SYK, IMD82 Protein-tyrosine kinase SYK SYK 6850 ENSG00000165025 Immunodeficiency 82 with systemic inflammation, 619381 (3), Autosomal dominant Syk (MGI:99515) -chr9 91213822 91361944 9q22.31 9q22.31 600529 AUH AU-specific RNA-binding protein (3-methylglutaconyl-CoA hydratase) AUH 549 ENSG00000148090 3-methylglutaconic aciduria, type I, 250950 (3), Autosomal recessive Auh (MGI:1338011) -chr9 91409044 91425062 9q22.1-q22.3 9q22.31 605327 NFIL3, NFIL3A, E4BP4 Nuclear factor, interleukin 3-regulated NFIL3 4783 ENSG00000165030 Nfil3 (MGI:109495) -chr9 91722597 91950227 9q22 9q22.31 602337 ROR2, BDB1, BDB, NTRKR2 Receptor tyrosine kinase-like orphan receptor 2 ROR2 4920 ENSG00000169071 Brachydactyly, type B1, 113000 (3), Autosomal dominant; Robinow syndrome, autosomal recessive, 268310 (3), Autosomal recessive Ror2 (MGI:1347521) -chr9 92031140 92115412 9q22.1-q22.3 9q22.31 605712 SPTLC1, LBC1, SPT1, HSN1, HSAN Serine palmitoyltransferase, long-chain base subunit 1 SPTLC1 10558 ENSG00000090054 Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3), Autosomal dominant Sptlc1 (MGI:1099431) -chr9 92210206 92293696 9q21 9q22.31 600709 IARS1, IARS, GRIDHH Isoleucine-tRNA synthetase 1 IARS1 3376 ENSG00000196305 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive Iars (MGI:2145219) -chr9 92297357 92325993 9q22.32 9q22.31 611534 NOL8, NOP132 Nucleolar protein 8 NOL8 55035 ENSG00000198000 Nol8 (MGI:1918180) -chr9 92325456 92620528 9q22.31 9q22.31 611505 CENPP Centromeric protein P CENPP 401541 ENSG00000188312 Cenpp (MGI:1913586) -chr9 92383267 92404698 9q22.3 9q22.31 602383 OGN, OIF Osteoglycin OGN 4969 ENSG00000106809 Ogn (MGI:109278) -chr9 92412379 92424470 9q22.31 9q22.31 618926 OMD, OSAD Osteomodulin OMD 4958 ENSG00000127083 Omd (MGI:1350918) -chr9 92456204 92482505 9q21.3-q22 9q22.31 608135 ASPN, PLAP1, OS3 Asporin ASPN 54829 ENSG00000106819 {Lumbar disc degeneration}, 603932 (3); {Osteoarthritis susceptibility 3}, 607850 (3), Autosomal dominant Aspn (MGI:1913945) -chr9 92493546 92536840 9q22.3 9q22.31 603479 ECM2 Extracellular matrix protein-2 ECM2 1842 ENSG00000106823 Ecm2 (MGI:3039578) -chr9 92613182 92670258 9q22.31 9q22.31 619043 IPPK, IP5K Inositol-pentakisphosphate 2-kinase IPPK 64768 ENSG00000127080 Ippk (MGI:1922928) -chr9 92711362 92764840 9q22.3 9q22.31 609797 BICD2, KIAA0699, SMALED2A, SMALED2B BICD carbo adaptor 2 BICD2 23299 ENSG00000185963 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 (3), Autosomal dominant; Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290 (3), Autosomal dominant Bicd2 (MGI:1924145) -chr9 92947522 93036235 9q22.31 9q22.31 617554 FGD3, ZFYVE5 FYVE, RhoGEF, and Ph domain-containing protein 3 FGD3 89846 ENSG00000127084 Fgd3 (MGI:1353657) -chr9 93058700 93085137 9q22.31 9q22.31 616429 SUSD3 SUSHI domain-containing protein 3 SUSD3 203328 ENSG00000157303 Susd3 (MGI:1913579) -chr9 93096216 93113282 9q22.32 9q22.31 617726 CARD19, BINCARD, C9orf89 Caspase recruitment domain-containing protein 19 CARD19 84270 ENSG00000165233 Card19 (MGI:1915730) -chr9 93121495 93134303 9q22 9q22.31 602062 NINJ1 Ninjurin NINJ1 4814 ENSG00000131669 Ninj1 (MGI:1196617) -chr9 93184138 93327580 9q22.3 9q22.31 606249 WNK2, PRKWNK2 WNK lysine deficient protein kinase 2 WNK2 65268 ENSG00000165238 Wnk2 (MGI:1922857) -chr9 93451684 93566111 9q22.31 9q22.31 612265 FAM120A, C9orf10, KIAA0183 Family with sequence similarity 120, member A FAM120A 23196 ENSG00000048828 Fam120a (MGI:2446163) -chr9 93576583 93679586 9q22 9q22.31 604351 PHF2 PHD finger protein-2 PHF2 5253 ENSG00000197724 Phf2 (MGI:1338034) -chr9 93951626 93955354 9q12 9q22.32 603260 BARX1 BarH-like homeo box gene 1 BARX1 56033 ENSG00000131668 Barx1 (MGI:103124) -chr9 94175956 94176035 9q22.32 9q22.32 605386 MIRLET7A1, LET7A1, MIRNLET7A1 Micro RNA Let7a1 MIRLET7A1 406881 ENSG00000199165 Mirlet7a-1 (MGI:2676793) -chr9 94176346 94176432 9q22.32 9q22.32 612146 MIRLET7F1, LET7F1, MIRNLET7F1 Micro RNA Let7f1 MIRLET7F1 406888 ENSG00000199072 Mirlet7f-1 (MGI:2676798) -chr9 94178833 94178919 9q22.32 9q22.32 612145 MIRLET7D, LET7D, MIRNLET7D Micro RNA Let7d MIRLET7D 406886 ENSG00000199133 Mirlet7d (MGI:2676796) -chr9 94259297 94303966 9q22.3 9q22.32 603404 ZNF169 Zinc finger protein-169 ZNF169 169841 ENSG00000175787 Zfp169 (MGI:1915161) -chr9 94558719 94593823 Chr.9 9q22.32 603027 FBP2 Fructose-1,6-bisphosphatase 2 FBP2 8789 ENSG00000130957 Fbp2 (MGI:95491) -chr9 94603132 94640262 9q22.2-q22.3 9q22.32 611570 FBP1 Fructose-bisphosphatase 1 FBP1 2203 ENSG00000165140 Fructose-1,6-bisphosphatase deficiency, 229700 (3), Autosomal recessive Fbp1 (MGI:95492) -chr9 95085207 95085303 9q22.32 9q22.32 610723 MIR23B, MIRN23B Micro RNA 23B MIR23B 407011 ENSG00000207563 Mir23b (MGI:2676898) -chr9 95085444 95085540 9q22.32 9q22.32 610636 MIR27B, MIRN27B Micro RNA 27B MIR27B 407019 ENSG00000207864 Mir27b (MGI:2676903) -chr9 95086020 95086087 9q22.32 9q22.32 609705 MIR189, MIRN24-1 Micro RNA 24-1 MIR24-1 407012 ENSG00000284459 Mir24-1 (MGI:2676899) -chr9 95099053 95317729 9q22.3 9q22.32 613899 FANCC, FACC Fanconi anemia, complementation group C FANCC 2176 ENSG00000158169 Fanconi anemia, complementation group C, 227645 (3), Autosomal recessive Fancc (MGI:95480) -chr9 95442979 95516970 9q22.3 9q22.32 601309 PTCH1, NBCCS, BCNS, HPE7 Patched 1 PTCH1 5727 ENSG00000185920 Basal cell carcinoma, somatic, 605462 (3); Holoprosencephaly 7, 610828 (3), Autosomal dominant; Basal cell nevus syndrome, 109400 (3), Autosomal dominant Ptch1 (MGI:105373) -chr9 95875631 96041091 9q22.32 9q22.32 615667 ERCC6L2, RAD26L, BMFS2 ERCC6-like 2 ERCC6L2 375748 ENSG00000182150 Bone marrow failure syndrome 2, 615715 (3), Autosomal recessive Ercc6l2 (MGI:1923501) -chr9 96235305 96313986 9q22 9q22.32 605573 HSD17B3, EDH17B3 Hydroxysteroid (17-beta) dehydrogenase 3 HSD17B3 3293 ENSG00000130948 Pseudohermaphroditism, male, with gynecomastia, 264300 (3), Autosomal recessive Hsd17b3 (MGI:107177) -chr9 96313436 96383710 9q22.3 9q22.32 609182 SLC35D2, HFRC1, SQV7L Solute carrier family 35, member D2 SLC35D2 11046 ENSG00000130958 Slc35d2 (MGI:1917734) -chr9 96385940 96418638 9q22.32 9q22.32 610160 ZNF367, AFF29 Zinc finger protein 367 ZNF367 195828 ENSG00000165244 Zfp367 (MGI:2442266) -chr9 96450161 96491335 9q22.32 9q22.32 617369 HABP4, IHABP4 Hyaluronan-binding protein 4 HABP4 22927 ENSG00000130956 Habp4 (MGI:1891713) -chr9 96492742 96619842 9q22.32-q22.33 9q22.32-q22.33 603505 CDC14B Cell division cycle 14B CDC14B 8555 ENSG00000081377 Cdc14b (MGI:2441808) -chr9 96500000 99800000 9q22 608695 JOAG2 Glaucoma, primary open angle, juvenile-onset, 2 574078 between D9S1803 and D9S196 Glaucoma, primary open angle, juvenile-onset, 2, 608695 (2) -chr9 96500000 99800000 9q22 610114 STQTL8 Stature quantitative trait locus 8 100037266 between GATA81C04M and ATA18A07M {Stature QTL 8}, 610114 (2) -chr9 96754552 96778548 9q22.33 9q22.33 619385 ZNF510, KIAA0972 Zinc finger protein 510 ZNF510 22869 ENSG00000081386 -chr9 97029676 97039642 9q22.2 9q22.33 603308 CTSV, CTSL2 Cathepsin V CTSV 1515 ENSG00000136943 Ctsl (MGI:88564) -chr9 97412095 97496124 9q22.33 9q22.33 611258 TDRD7, KIAA1529, TRAP, CATC4, CTRCT36 Tudor domain-containing protein 7 TDRD7 23424 ENSG00000196116 Cataract 36, 613887 (3), Autosomal recessive Tdrd7 (MGI:2140279) -chr9 97501179 97601742 9q22.3 9q22.33 190930 TMOD Tropomodulin TMOD1 7111 ENSG00000136842 Tmod1 (MGI:98775) -chr9 97633820 97673747 9q22.3-q31 9q22.33 600469 NCBP1 Nuclear cap binding protein 1, 80kD NCBP1 4686 ENSG00000136937 in 500kb of XPA Ncbp1 (MGI:1891840) -chr9 97654397 97697402 9q22.3 9q22.33 611153 XPA, XPAC XPA complementing gene XPA 7507 ENSG00000136936 Xeroderma pigmentosum, group A, 278700 (3), Autosomal recessive Xpa (MGI:99135) -chr9 97853225 97856716 9q22 9q22.33 602617 FOXE1, FKHL15, TITF2, TTF2, NMTC4 Forkhead box E1 (thyroid transcription factor-2) FOXE1 2304 ENSG00000178919 Bamforth-Lazarus syndrome, 241850 (3), Autosomal recessive; {Thyroid cancer, nonmedullary, 4}, 616534 (3), Autosomal dominant Foxe1 (MGI:1353500) -chr9 97926790 97944851 9q22 9q22.33 610715 HEMGN, EDAG Hemogen HEMGN 55363 ENSG00000136929 Hemgn (MGI:2136910) -chr9 98056727 98083082 9q22.33 9q22.33 605202 NANS, SAS, SEMDCG N-acetylneuraminic acid synthase (sialic acid synthase) NANS 54187 ENSG00000095380 Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive Nans (MGI:2149820) -chr9 98072013 98119419 9q22-q31 9q22.33 606556 TRIM14, KIAA0129 Tripartite motif-containing protein 14 TRIM14 9830 ENSG00000106785 Trim14 (MGI:1921985) -chr9 98120974 98192636 9q22.3 9q22.33 602159 CORO2A, WDR2, IR10 Coronin 2A CORO2A 7464 ENSG00000106789 Coro2a (MGI:1345966) -chr9 98198997 98255648 9q22.3 9q22.33 609871 TBC1D2, PARIS1 TBC1 domain family, member 2 TBC1D2 55357 ENSG00000095383 Tbc1d2 (MGI:2652885) -chr9 98288103 98708934 9q22.1 9q22.33 607340 GABBR2, GPR51, DEE59, NDPLHS Gamma-aminobutyric acid B receptor 2 GABBR2 9568 ENSG00000136928 {Nicotine dependence, protection against}, 188890 (3); {Nicotine dependence, susceptibility to}, 188890 (3); Developmental and epileptic encephalopathy 59, 617904 (3), Autosomal dominant; Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3), Autosomal dominant Gabbr2 (MGI:2386030) -chr9 98732008 98796554 9q22.33 9q22.33 615370 ANKS6, PKDR1, NPHP16 Ankyrin repeat and sterile alpha motif domains-containing protein 6 ANKS6 203286 ENSG00000165138 Nephronophthisis 16, 615382 (3), Autosomal recessive Anks6 (MGI:1922941) -chr9 98807669 98850080 9q22 9q22.33 610290 GALNT12, CRCS1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 GALNT12 79695 ENSG00000119514 {Colorectal cancer, susceptibility to, 1}, 608812 (3) Galnt12 (MGI:2444664) -chr9 98943391 99070786 9q21-q22 9q22.33 120325 COL15A1 Collagen XV, alpha-1 polypeptide COL15A1 1306 ENSG00000204291 Col15a1 (MGI:88449) -chr9 99104037 99154191 9q22 9q22.33 190181 TGFBR1, ALK5, AAT5, LDS1, MSSE Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD) TGFBR1 7046 ENSG00000106799 {Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3), Autosomal dominant; Loeys-Dietz syndrome 1, 609192 (3), Autosomal dominant Tgfbr1 (MGI:98728) -chr9 99216424 99221941 9q22 9q22.33 607905 ALG2, CDGII, CMSTA3, CMS14 ALG2 alpha-1,3/1,6-mannosyltransferase ALG2 85365 ENSG00000119523 mutation identified in 1 CDGII patient ?Congenital disorder of glycosylation, type Ii, 607906 (3), Autosomal recessive; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3), Autosomal recessive Alg2 (MGI:1914731) -chr9 99222281 99230614 9q22.33 9q22.33 609214 SEC61B SEC61 translocon, beta subunit SEC61B 10952 ENSG00000106803 Sec61b (MGI:1913462) -chr9 99800000 105400000 9q31.1 614954 CHDT3 Congenital heart defects, multiple types, 3 101154642 max lod at D9S1690 Congenital heart defects, multiple types, 3, 614954 (2), Autosomal dominant -chr9 99821884 99866892 9q22 9q31.1 600542 CSMF Chondrosarcoma, extraskeletal myxoid, fused to EWS in NR4A3 8013 ENSG00000119508 t(9;17)(q22;q11); t(9;22)(q22;q11-q12) Chondrosarcoma, extraskeletal myxoid, 612237 (3) Nr4a3 (MGI:1352457) -chr9 99906653 99974540 9q31 9q31.1 604204 STX17 Syntaxin 17 STX17 55014 ENSG00000136874 Stx17 (MGI:1914977) -chr9 99979184 100098999 9q31.1 9q31.1 609170 TXNDC4, KIAA0573 Thioredoxin domain-containing protein 4 ERP44 23071 ENSG00000023318 Erp44 (MGI:1923549) -chr9 100099242 100302174 9q31 9q31.1 243305 INVS, INV, NPHP2, NPH2 Inversin INVS 27130 ENSG00000119509 Nephronophthisis 2, infantile, 602088 (3), Autosomal recessive Invs (MGI:1335082) -chr9 100302083 100352941 9q31.1 9q31.1 616717 TEX10 Testis-expressed gene 10 TEX10 54881 ENSG00000136891 Tex10 (MGI:1344413) -chr9 100473148 100577635 9q31 9q31.1 603421 TMEFF1, C9orf2 Transmembrane protein with EGF-like and 2 follistatin-like domains 1 TMEFF1 8577 ENSG00000241697 Tmeff1 (MGI:1926810) -chr9 100578078 100588388 9q31 9q31.1 617714 CAVIN4, MURC Caveolae-associated protein 4 CAVIN4 347273 ENSG00000170681 Cavin4 (MGI:1915266) -chr9 101360416 101385005 9q22.3 9q31.1 602938 BAAT, HCHO, BACD1 Bile acid coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase) BAAT 570 ENSG00000136881 Hypercholanemia, familial, 607748 (3), Autosomal recessive; Bile acid conjugation defect 1, 619232 (3), Autosomal recessive Baat (MGI:106642) -chr9 101387632 101398617 9q31.1 9q31.1 611854 MRPL50 Mitochondrial ribosomal protein L50 MRPL50 54534 ENSG00000136897 pseudogenes on 2, 5, and 10 Mrpl50 (MGI:107329) -chr9 101398829 101410654 9q22-q31 9q31.1 603132 ZNF189 Zinc finger protein-189 ZNF189 7743 ENSG00000136870 Zfp189 (MGI:2444707) -chr9 101420559 101435773 9q22.3 9q31.1 612724 ALDOB Aldolase B, fructose-bisphosphatase ALDOB 229 ENSG00000136872 Fructose intolerance, hereditary, 229600 (3), Autosomal recessive Aldob (MGI:87995) -chr9 101533852 101563343 9q31.1 9q31.1 607699 RNF20, BRE1A Ring finger protein 20 RNF20 56254 ENSG00000155827 Rnf20 (MGI:1925927) -chr9 101569351 101738646 9q31.1 9q31.1 606650 GRIN3A, NR3A Glutamate receptor, ionotropic, N-methyl-D-aspartate 3A GRIN3A 116443 ENSG00000198785 Grin3a (MGI:1933206) -chr9 101591603 101594968 9q31.1 9q31.1 613821 PPP3R2, PPP3RL, CBLP Protein phosphatase 3, regulatory subunit B, beta PPP3R2 5535 ENSG00000188386 Ppp3r2 (MGI:107171) -chr9 102995332 103018487 9q31.1 9q31.1 604035 CYLC2 Cylicin 2 CYLC2 1539 ENSG00000155833 Cylc2 (MGI:1922164) -chr9 104093759 104141418 Chr.9 9q31.1 605576 CAPE Chromosome-associated protein E SMC2 10592 ENSG00000136824 Smc2 (MGI:106067) -chr9 104747682 104760119 9q31.1 9q31.1 608871 NIPSNAP3A, TASSC, NIPSNAP4 Nipsnap homolog 3A NIPSNAP3A 25934 ENSG00000136783 Nipsnap3b (MGI:1913786) -chr9 104763740 104777763 9q31.1 9q31.1 608872 NIPSNAP3B Nipsnap homolog 3B NIPSNAP3B 55335 ENSG00000165028 Nipsnap3b (MGI:1913786) -chr9 104781005 104928154 9q22-q31 9q31.1 600046 ABCA1, ABC1, HPALP1, TGD, HDLCQTL13 ATP-binding cassette 1 ABCA1 19 ENSG00000165029 Tangier disease, 205400 (3), Autosomal recessive; HDL deficiency, familial, 1, 604091 (3) Abca1 (MGI:99607) -chr9 105244607 105439774 9q31.2 9q31.1-q31.2 606105 SLC44A1, CTL1, CDW92, CONATOC Solute carrier family 44, member 1 SLC44A1 23446 ENSG00000070214 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, 618868 (3), Autosomal recessive Slc44a1 (MGI:2140592) -chr9 105400000 134500000 9q31.2-q34.2 612238 IS4 Scoliosis, idiopathic, susceptibility to, 4 100190785 max lod at D9S2157 {Scoliosis, idiopathic, susceptibility to, 4}, 612238 (2) -chr9 105400000 108500000 9q31.2 612883 MENAQ3 Menarche, age at, QTL3 100302563 associated with rs2090409 {Menarche, age at, QTL3}, 612883 (2) -chr9 105442182 105552432 9q31 9q31.2 609829 FSD1NL, FSD1L, MIR1, CCDC10 FSD1 N-terminus-like protein FSD1L 83856 ENSG00000106701 Fsd1l (MGI:2442443) -chr9 105558116 105655949 9q31 9q31.2 607440 FKTN, FCMD, CMD1X, LGMDR13, MDDGA4, MDDGB4, MDDGC4 Fukutin FKTN 2218 ENSG00000106692 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3), Autosomal recessive; Cardiomyopathy, dilated, 1X, 611615 (3), Autosomal recessive Fktn (MGI:2179507) -chr9 105662456 105663123 9q31 9q31.2 186855 TAL2 T-cell acute lymphocytic leukemia-2 TAL2 6887 ENSG00000186051 33kb from breakpoint in t(7;9) Leukemia, T-cell acute lymphocytic, somatic, 613065 (3) Tal2 (MGI:99540) -chr9 105694540 105776628 9q31.2 9q31.2 611236 TMEM38B, TRICB, OI14 Transmembrane protein 38B TMEM38B 55151 ENSG00000095209 Osteogenesis imperfecta, type XIV, 615066 (3) Tmem38b (MGI:1098718) -chr9 106860153 107013633 9q31.2 9q31.2 617371 ZNF462, KIAA1803, WSKA Zinc finger protein 462 ZNF462 58499 ENSG00000148143 Weiss-Kruszka syndrome, 618619 (3), Autosomal dominant Zfp462 (MGI:107690) -chr9 107283278 107332193 9q31.2 9q31.2 600062 RAD23B RAD23 homolog B, nucleotide excision repair protein RAD23B 5887 ENSG00000119318 previously 3p25.1 Rad23b (MGI:105128) -chr9 107484851 107489768 9q31 9q31.2 602253 KLF4, EZF, GKLF Kruppel-like factor 4 KLF4 9314 ENSG00000136826 Klf4 (MGI:1342287) -chr9 108500000 114900000 9q31-q32 608026 HNP1 Hypertensive nephropathy 574045 Hypertensive nephropathy, 608026 (2) -chr9 108500000 112100000 9q31 600156 HSCR5 Hirschsprung disease, susceptibility to, 5 404720 {Hirschsprung disease, susceptibility to, 5}, 600156 (2), Autosomal dominant -chr9 108500000 112100000 9q31 607853 PAND2 Panic disorder 2 619493 max lod at D9S271 Panic disorder 2, 607853 (2) -chr9 108500000 138394717 9q31-q34 183840 SPDA2 Spondyloarthropathy, susceptibility to, 2 791255 max lod at D9S1776 {Spondyloarthropathy, susceptibility to, 2}, 183840 (2), Autosomal dominant -chr9 108854587 108855985 9q31 9q31.3 604304 ACTL7B Actin-like 7B ACTL7B 10880 ENSG00000148156 Actl7b (MGI:1343053) -chr9 108862265 108863755 9q31 9q31.3 604303 ACTL7A Actin-like 7A ACTL7A 10881 ENSG00000187003 Actl7a (MGI:1343051) -chr9 108867516 108934134 9q31 9q31.3 603722 ELP1, IKBKAP, IKAP Elongator complex protein 1 ELP1 8518 ENSG00000070061 Dysautonomia, familial, 223900 (3), Autosomal recessive Elp1 (MGI:1914544) -chr9 108942568 109013534 9q31.2 9q31.3 604785 CTNNAL1 Catenin, alpha-like, 1 CTNNAL1 8727 ENSG00000119326 Ctnnal1 (MGI:1859649) -chr9 109046228 109046297 9q31.3 9q31.3 609355 MIR32, MIRN32 Micro RNA 32 MIR32 407036 ENSG00000207698 Mir32 (MGI:3619331) -chr9 109130292 109167248 9q31.3 9q31.3 604574 FRRS1L, C9orf4, CG6, DEE37 Ferric-chelate reductase 1-like FRRS1L 23732 ENSG00000260230 Developmental and epileptic encephalopathy 37, 616981 (3), Autosomal recessive Frrs1l (MGI:2442704) -chr9 109171973 109321058 9q31-q32 9q31.3 610340 EPB41L4B, EHM2 Erythrocyte membrane protein band 4.1-like 4B EPB41L4B 54566 ENSG00000095203 Epb41l4b (MGI:1859149) -chr9 109375693 109538394 9q31.3 9q31.3 176877 PTPN3, PTPH1 Protein-tyrosine phosphatase, nonreceptor-type, 3 PTPN3 5774 ENSG00000070159 Ptpn3 (MGI:105307) -chr9 109640786 110172511 9q31-q33 9q31.3 604582 AKAP2, AKAPKL, KIAA0920, PALM2 A-kinase anchor protein 2 PALM2AKAP2 445815 ENSG00000157654 multiple splice variants Pakap (MGI:5141924) -chr9 110243809 110256506 9q31 9q31.3 187700 TXN Thioredoxin TXN 7295 ENSG00000136810 incorrectly assigned to 3 Txn1 (MGI:98874) -chr9 110300899 110337886 9q32 9q31.3 617789 TXNDC8, SPTRX3 Thioredoxin domain-containing protein 8 TXNDC8 255220 ENSG00000204193 Txndc8 (MGI:1914652) -chr9 110365247 110579740 9q32 9q31.3 611691 SVEP1, POLYDOM, SELOB Sushi, von willebrand factor type A, EGF, and pentraxin domain-containing 1 SVEP1 79987 ENSG00000165124 Svep1 (MGI:1928849) -chr9 110668188 110806632 9q31.3-q32 9q31.3 601296 MUSK, CMS9, FADS1 Receptor tyrosine kinase MuSK MUSK 4593 ENSG00000030304 Fetal akinesia deformation sequence 1, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3), Autosomal recessive Musk (MGI:103581) -chr9 110873251 111038997 9q31.3 9q31.3 602282 LPAR1, EDG2, LPA1, VZG1 Lysophosphatidic acid receptor 1 LPAR1 1902 ENSG00000198121 Lpar1 (MGI:108429) -chr9 111360684 111484382 9q31.3 9q31.3 616694 ECPAS, ECM29, KIAA0368 ECM29 proteasome adaptor and scaffold protein ECPAS 23392 ENSG00000136813 Ecpas (MGI:2140220) -chr9 111549721 111599854 9q31.3 9q31.3 601274 PTGR1, LTB4DH Prostaglandin reductase 1 PTGR1 22949 ENSG00000106853 Ptgr1 (MGI:1914353) -chr9 111661604 111670225 9q31.3 9q31.3 604389 GNG10 Guanine nucleotide-binding protein, gamma 10 GNG10 2790 ENSG00000242616 Gng10 (MGI:1336169) -chr9 111686170 111795948 9q31.3 9q31.3 618038 SHOC1, C9orf84, ZIP2 Shortage in chiasmata 1 SHOC1 158401 ENSG00000165181 Shoc1 (MGI:2140313) -chr9 111896765 111935368 9q31 9q31.3 602874 UGCG, GCS UDP-glucose ceramide glucosyltransferase UGCG 7357 ENSG00000148154 Ugcg (MGI:1332243) -chr9 112100000 127500000 9q32-q33 611488 ARMD10 Macular degeneration, age-related, 10 Macular degeneration, age-related, 10, 611488 (2) -chr9 112100000 127500000 9q32-q33 608762 EIG3 Epilepsy, idiopathic generalized, susceptibility to 3 432400 {Epilepsy, idiopathic generalized, susceptibility to, 3}, 608762 (2), Autosomal recessive -chr9 112100000 114900000 9q32 612259 IBD16 Inflammatory bowel disease 16, susceptibility to 100190930 {Inflammatory bowel disease 16}, 612259 (2) -chr9 112217714 112333668 9q32 9q32 607527 PTBP3, ROD1 Polypyrimidine tract binding protein 3 PTBP3 9991 ENSG00000119314 Ptbp3 (MGI:1923334) -chr9 112486826 112669396 3q32 9q32 617390 KIAA1958 KIAA1958 gene KIAA1958 158405 ENSG00000165185 E130308A19Rik (MGI:2442164) -chr9 112683925 112718116 9q32 9q32 613273 INIP, C9orf80, SOSSC INST3- and NABP-interacting protein INIP 58493 ENSG00000148153 Inip (MGI:1913459) -chr9 112878919 112895537 9q31-q34 9q32 608956 SLC46A2, TSCOT Solute carrier family 46, member 2 SLC46A2 57864 ENSG00000119457 Slc46a2 (MGI:1353616) -chr9 113038376 113056723 9q32 9q32 602951 ZFP37 Zinc finger protein-37, mouse, homolog of ZFP37 7539 ENSG00000136866 ?candidate for Nager syndrome Zfp37 (MGI:99181) -chr9 113151006 113164139 9q31-q32 9q32 603088 SLC13A2, COPT2, CTR2 Solute carrier family 31 (copper transporter), member 2 SLC31A2 1318 ENSG00000136867 Slc31a2 (MGI:1333844) -chr9 113161005 113221324 9q32 9q32 617398 FKBP15, FKBP133, KIAA0674, WAFL FK506-binding protein 15 FKBP15 23307 ENSG00000119321 Fkbp15 (MGI:2444782) -chr9 113221543 113264491 9q31-q32 9q32 603085 SLC31A1, COPT1, CTR1 Solute carrier family 31 (copper transporter), member 1 SLC31A1 1317 ENSG00000136868 Slc31a1 (MGI:1333843) -chr9 113266991 113275578 9q32 9q32 614533 CDC26, APC12 Cell division cycle 26 CDC26 246184 ENSG00000176386 pseudogene on 7q32.1 Cdc26 (MGI:1913690) -chr9 113275657 113292904 9q31-q33 9q32 607795 PRPF4, PRP4, HPRP4, RP70 Pre-mRNA processing factor 4 PRPF4 9128 ENSG00000136875 Retinitis pigmentosa 70, 615922 (3), Autosomal dominant Prpf4 (MGI:1917302) -chr9 113386311 113401300 9q34 9q32 125270 ALAD, ALADH, PBGS Aminolevulinate, delta-, dehydratase ALAD 210 ENSG00000148218 linked to ABO; ORM-ALAD-AK-ABO Porphyria, acute hepatic, 612740 (3), Autosomal recessive; {Lead poisoning, susceptibility to}, 612740 (3), Autosomal recessive Alad (MGI:96853) -chr9 113407234 113410748 9q33 9q32 607267 POLE3, CHARAC17, YBL1 Polymerase, DNA, epsilon-3 POLE3 54107 ENSG00000148229 Pole3 (MGI:1933378) -chr9 113444729 113597737 9q31-q33 9q32 602189 RGS3 Regulator of G-protein signaling-3 RGS3 5998 ENSG00000138835 Rgs3 (MGI:1354734) -chr9 113876284 114056594 9q32 9q32 617077 ZNF618, NEDD10, KIAA1952 Zinc finger protein 618 ZNF618 114991 ENSG00000157657 Zfp618 (MGI:1919950) -chr9 114060126 114078299 9q32-q33 9q32 176870 AMBP, ITIL, ITI, HCP Alpha-1-microglobulin/bikunin precursor (inter-alpha-trypsin inhibitor, light chain; protein HC) AMBP 259 ENSG00000106927 Ambp (MGI:88002) -chr9 114091622 114100089 9q32 9q32 611278 KIF12 Kinesin family member 12 KIF12 113220 ENSG00000136883 Kif12 (MGI:1098232) -chr9 114154270 114312510 9q32 9q32 608461 COL27A1, KIAA1870, STLS Collagen, type XXVII, alpha-1 COL27A1 85301 ENSG00000196739 Steel syndrome, 615155 (3), Autosomal recessive Col27a1 (MGI:2672118) -chr9 114323097 114326478 9q34.1-q34.3 9q32 138600 ORM1, AGP1 Orosomucoid-1 (alpha-1-acid glycoprotein-1) ORM1 5004 ENSG00000229314 linked to ABO, AK1, ALAD Orm1,Orm3,Orm2 (MGI:97445,MGI:97444,MGI:97443) -chr9 114329868 114333250 9q34.1-q34.3 9q32 138610 ORM2 Orosomucoid-2 ORM2 5005 ENSG00000228278 Orm1,Orm3,Orm2 (MGI:97445,MGI:97444,MGI:97443) -chr9 114334148 114398497 9q32 9q32 605729 AKNA AT-hook transcription factor AKNA 80709 ENSG00000106948 Akna (MGI:2140340) -chr9 114402077 114505499 9q32-q34 9q32 607928 WHRN, CIP98, KIAA1526, DFNB31, USH2D Whirlin WHRN 25861 ENSG00000095397 Deafness, autosomal recessive 31, 607084 (3), Autosomal recessive; Usher syndrome, type 2D, 611383 (3), Autosomal recessive Whrn (MGI:2682003) -chr9 114587768 114598878 9q32 9q32 607296 ATP6V1G1, ATP6G1 ATPase, H+ transporting, V1 subunit G1 ATP6V1G1 9550 ENSG00000136888 Atp6v1g1 (MGI:1913540) -chr9 114784634 114806038 9q32 9q32 604052 TNFSF15, TL1, VEGI Tumor necrosis factor ligand superfamily, member 15 (vascular endothelial growth inhibitor) TNFSF15 9966 ENSG00000181634 Tnfsf15 (MGI:2180140) -chr9 114893342 114930673 9q33 9q-q 603875 TNFSF8, CD30L, CD30LG Tumor necrosis factor ligand superfamily, member 8 (CD30 ligand) TNFSF8 944 ENSG00000106952 Tnfsf8 (MGI:88328) -chr9 115019574 115118243 9q33 9q33.1 187380 TNC, HXB, DFNA56 Tenascin C (hexabrachion) TNC 3371 ENSG00000041982 proximal to ABL Deafness, autosomal dominant 56, 615629 (3), Autosomal dominant Tnc (MGI:101922) -chr9 115141817 115402643 9q32 9q33.1 604767 DEC1 Deleted in esophageal cancer 1 DELEC1 50514 ENSG00000173077 -chr9 116153751 116402320 9q33.1 9q33.1 176385 PAPPA, DIPLA1 Pappalysin 1 PAPPA 5069 ENSG00000182752 Pappa (MGI:97479) -chr9 116398156 116400605 9q33.1 9q33.1 610689 DIPAS DIPLA1, antisense PAPPA-AS1 493913 ENSG00000256040 -chr9 116423111 117415056 9q33.1 9q33.1 612856 ASTN2, KIAA0634 Astrotactin 2 ASTN2 23245 ENSG00000148219 Astn2 (MGI:1889277) -chr9 116687304 116701298 9q31-q34.1 9q33.1 602290 TRIM32, HT2A, LGMDR8, BBS11 Tripartite-motif-containing protein 32 TRIM32 22954 ENSG00000119401 mutation identified in 1 BBS11 family ?Bardet-Biedl syndrome 11, 615988 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3), Autosomal recessive Trim32 (MGI:1917057) -chr9 117704402 117724734 9q32-q33 9q33.1 603030 TLR4 Toll-like receptor-4 TLR4 7099 ENSG00000136869 Tlr4 (MGI:96824) -chr9 119166628 119369434 9q33.1 9q33.1 602865 BRINP1, DBC1, DBCCR1 Bone morphogenetic protein/retinoic acid-inducible neural-specific protein 1 BRINP1 1620 ENSG00000078725 Brinp1 (MGI:1928478) -chr9 120388874 120580166 9q33.3 9q33.2 608201 CDK5RAP2, KIAA1633, MCPH3 CDK5 regulatory subunit-associated protein 2 CDK5RAP2 55755 ENSG00000136861 Microcephaly 3, primary, autosomal recessive, 604804 (3), Autosomal recessive Cdk5rap2 (MGI:2384875) -chr9 120600810 120714469 9q32-q33.3 9q33.2 604268 MEGF9, EGFL5 Multiple epidermal growth factor-like domains 9 MEGF9 1955 ENSG00000106780 Megf9 (MGI:1918264) -chr9 120756973 120793439 9q34 9q33.2 609071 FBXW2, FBW2, FWD2 F-box and WD40 domain protein 2 FBXW2 26190 ENSG00000119402 Fbxw2 (MGI:1353435) -chr9 120816052 120842921 9q33.2 9q33.2 604452 PSMD5, S5B Proteasome 26S subunit, non-ATPase, 5 PSMD5 5711 ENSG00000095261 Psmd5 (MGI:1914248) -chr9 120855650 120902159 9q33.3 9q33.2 609740 PHF19 PHD finger protein 19 PHF19 26147 ENSG00000119403 Phf19 (MGI:1921266) -chr9 120902392 120929170 9q33-q34 9q33.2 601711 TRAF1 TNF receptor-associated factor 2 TRAF1 7185 ENSG00000056558 Traf1 (MGI:101836) -chr9 120952334 121074864 9q34.1 9q33.2 120900 C5, C5D, ECLZB Complement component-5 C5 727 ENSG00000106804 C5 deficiency, 609536 (3), Autosomal recessive; [Eculizumab, poor response to], 615749 (3), Autosomal dominant Hc (MGI:96031) -chr9 121074891 121177609 9q33 9q33.2 605496 CEP1, CEP110, FAN Centrosomal protein 1 CNTRL 11064 ENSG00000119397 Cntrl (MGI:1889576) -chr9 121178132 121201868 9q33.2 9q33.2 612673 RAB14 Ras-associated protein RAB14 51552 ENSG00000119396 Rab14 (MGI:1915615) -chr9 121201482 121332843 9q34 9q33.2 137350 GSN Gelsolin GSN 2934 ENSG00000148180 40kb proximal to ABL Amyloidosis, Finnish type, 105120 (3), Autosomal dominant Gsn (MGI:95851) -chr9 121338986 121370249 9q34.1 9q33.2 133090 STOM, EPB72, BND7 Stomatin (erythrocyte membrane protein band 7.2) STOM 2040 ENSG00000148175 proximal to ABL Stom (MGI:95403) -chr9 121444989 121499843 9q33-q34 9q33.2 104175 GGTA1P, GGTA1 Glycoprotein, alpha-galactosyltransferase-1 pseudogene GGTA1 2681 ENSG00000204136 processed pseudogene GGTA1P on 12q14-q15 Ggta1 (MGI:95704) -chr9 121566882 121785529 9q33 9q33.2 609205 DAB2IP, AIP1, KIAA1743 DAB2-interacting protein DAB2IP 153090 ENSG00000136848 Dab2ip (MGI:1916851) -chr9 122132465 122159778 9q33.2-q34.11 9q33.2 603359 NDUFA8, MC1DN37 NADH-ubiquinone oxidoreductase subunit A8 NDUFA8 4702 ENSG00000119421 Mitochondrial complex I deficiency, nuclear type 37, 619272 (3), Autosomal recessive Ndufa8 (MGI:1915625) -chr9 122185625 122228956 9q33.2 9q33.2 608215 LHX6 LIM homeobox gene 6 LHX6 26468 ENSG00000106852 Lhx6 (MGI:1306803) -chr9 122264881 122331336 9q32-q34.1 9q33.2 604602 MRFF, RRF Ribosome-recycling factor, mitochondrial MRRF 92399 ENSG00000148187 Mrrf (MGI:1915121) -chr9 122369905 122395702 9q32-q33.3 9q33.2 176805 PTGS1, COX1, PGHS1, COX3, PCOX1 Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) PTGS1 5742 ENSG00000095303 Ptgs1 (MGI:97797) -chr9 122818096 122828587 Chr.9 9q33.2 604421 PDCL Phosducin-like PDCL 5082 ENSG00000136940 Pdcl (MGI:1914716) -chr9 122844555 122905358 9q34 9q33.2 615231 RC3H2, MNAB RING finger and CCCH-type zinc finger domains-containing protein 2 RC3H2 54542 ENSG00000056586 Rc3h2 (MGI:2442789) -chr9 122908055 122913322 9q33.2 9q33.2 605976 ZBTB6, ZID Zinc finger- and BTB domain-containing protein 6 ZBTB6 10773 ENSG00000186130 Zbtb6 (MGI:2442998) -chr9 122931639 123104868 9q33.2-q33.3 9q33.2-q33.3 615882 RABGAP1, GAPCENA, TBC1D11 RAB GTPase-activating protein 1 RABGAP1 23637 ENSG00000011454 Rabgap1 (MGI:2385139) -chr9 123033634 123042750 9q33 9q33.2 601909 GPR21 G protein-coupled receptor-21 GPR21 2844 ENSG00000188394 Gpr21 (MGI:2441890) -chr9 123100000 127500000 9q33 613207 ASRT8 Asthma-related traits, susceptibility to, 8 100415896 associated with rs3789873 {Asthma-related traits, susceptibility to, 8}, 613207 (2) -chr9 123109493 123268585 9q34 9q33.3 611138 STRBP, SPNR, p74 Spermatid perinuclear RNA-binding protein STRBP 55342 ENSG00000165209 Strbp (MGI:104626) -chr9 123354064 123380325 9q33.3 9q33.3 609720 CRB2, FSGS9, VMCKD Crumbs cell polarity complex component 2 CRB2 286204 ENSG00000148204 Focal segmental glomerulosclerosis 9, 616220 (3), Autosomal recessive; Ventriculomegaly with cystic kidney disease, 219730 (3), Autosomal recessive Crb2 (MGI:2679260) -chr9 123379657 123930157 9q33.2 9q33.3 613633 DENND1A, KIAA1608 DENN/MADD domain-containing protein 1A DENND1A 57706 ENSG00000119522 Dennd1a (MGI:2442794) -chr9 124011758 124033300 9q33-q34.1 9q33.3 603759 LHX2, LH2 LIM/homeodomain protein LHX2 LHX2 9355 ENSG00000106689 Lhx2 (MGI:96785) -chr9 124257605 124353306 9q33.3-q34.11 9q33.3 604884 NEK6 NIMA-related kinase 6 NEK6 10783 ENSG00000119408 Nek6 (MGI:1891638) -chr9 124353464 124415441 9q34.11-q34.12 9q33.3 604030 PSMB7 Proteasome subunit, beta-type, 7 PSMB7 5695 ENSG00000136930 Psmb7 (MGI:107637) -chr9 124481235 124507398 9q33 9q33.3 184757 NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8, SRXX4 Nuclear receptor subfamily 5, group A, member 1 NR5A1 2516 ENSG00000136931 46, XX sex reversal 4, 617480 (3), Autosomal dominant; Premature ovarian failure 7, 612964 (3), Autosomal dominant; 46XY sex reversal 3, 612965 (3), Autosomal dominant; Adrenocortical insufficiency, 612964 (3), Autosomal dominant; Spermatogenic failure 8, 613957 (3), Autosomal dominant Nr5a1 (MGI:1346833) -chr9 124517274 124771310 9q33-q34.1 9q33.3 602778 GCNF Germ cell nuclear factor NR6A1 2649 ENSG00000148200 Nr6a1 (MGI:1352459) -chr9 124692441 124692550 9q33.3 9q33.3 612743 MIR181A2, MIRN181A2 Micro RNA 181A2 MIR181A2 406954 ENSG00000207595 Mir181a-2 (MGI:2676845) -chr9 124693709 124693797 9q33.3 9q33.3 612745 MIR181B2, MIRN181B2 Micro RNA 181B2 MIR181B2 406956 ENSG00000207737 Mir181b-2 (MGI:3618736) -chr9 124777132 124814884 9q33.3 9q33.3 615899 OLFML2A Olfactomedin-like 2A OLFML2A 169611 ENSG00000185585 Olfml2a (MGI:2444741) -chr9 124857882 124861956 9q33.3 9q33.3 618315 RPL35, DBA19 Ribosomal protein L35 RPL35 11224 ENSG00000136942 mutation identified in 1 DBA19 family ?Diamond-Blackfan anemia 19, 618312 (3), Autosomal dominant Rpl35,Gm2000 (MGI:3780170,MGI:1913739) -chr9 124878274 124941406 9q33.3 9q33.3 602502 GOLGA1 Golgin A1 GOLGA1 2800 ENSG00000136935 Golga1 (MGI:1924149) -chr9 124942607 125143527 9q33.3 9q33.3 619222 SCAI, C9orf126 Suppressor of cancer cell invasion SCAI 286205 ENSG00000173611 Scai (MGI:2443716) -chr9 125146572 125189802 9q33.3 9q33.3 612725 PPP6C Protein phosphatase 6, catalytic subunit PPP6C 5537 ENSG00000119414 highly related sequence on Xq22.3 Ppp6c (MGI:1915107) -chr9 125200492 125234160 9q33.3 9q33.3 605962 RABEPK RAB9 effector protein with kelch motifs RABEPK 10244 ENSG00000136933 Rabepk (MGI:2139530) -chr9 125234852 125241342 9q34 9q33.3 138120 HSPA5, GRP78 Heat-shock 70kD protein-5 (glucose-regulated protein, 78kD) HSPA5 3309 ENSG00000044574 Hspa5 (MGI:95835) -chr9 125261793 125367206 9q33.3 9q33.3 611714 GAPVD1, RAP6, GAPEX5, KIAA1521 GTPase-activating protein and VPS9 domains 1 GAPVD1 26130 ENSG00000165219 Gapvd1 (MGI:1913941) -chr9 125437393 125707207 9q33.3 9q33.3 610558 MAPKAP1, SIN1, MIP1, JC310 Mitogen-activated protein kinase-associated protein 1 MAPKAP1 79109 ENSG00000119487 Mapkap1 (MGI:2444554) -chr9 125747371 125967376 9q33-q34 9q33.3 176312 PBX3 Pre-B-cell leukemia transcription factor-3 PBX3 5090 ENSG00000167081 Pbx3 (MGI:97496) -chr9 126407774 126410503 9q33.3 9q33.3 609618 NRON Noncoding repressor of NFAT NRON 641373 Nron (MGI:2444126) -chr9 126613927 126701031 9q34.1 9q33.3 602575 LMX1B, NPS1, FSGS10 LIM homeo box transcription factor 1, beta LMX1B 4010 ENSG00000136944 Focal segmental glomerulosclerosis 10, 256020 (3), Autosomal dominant; Nail-patella syndrome, 161200 (3), Autosomal dominant Lmx1b (MGI:1100513) -chr9 126804071 126838209 9q33.3 9q33.3 618676 ZBTB43 Zinc finger- and BTB domain-containing protein 43 ZBTB43 23099 ENSG00000169155 Zbtb43 (MGI:1919084) -chr9 126860638 126885877 9q33.3 9q33.3 611692 ZBTB34, KIAA1993 Zinc finger- and BTB domain-containing protein 34 ZBTB34 403341 ENSG00000177125 Zbtb34 (MGI:2685195) -chr9 126914779 127223165 9q33.3 9q33.3 614444 RALGPS1, RALGEF2, KIAA0351 Ral guanine nucleotide exchange factor with PH domain and SH3 domain-binding motif 1 RALGPS1 9649 ENSG00000136828 Ralgps1 (MGI:1922008) -chr9 127087347 127122683 9q33.3 9q33.3 605001 ANGPTL2, ARP2 Angiopoietin-like 2 ANGPTL2 23452 ENSG00000136859 Angptl2 (MGI:1347002) -chr9 127397139 127407897 Chr.9 9q33.3 605245 SLC2A8, GLUT8 Solute carrier family 2, (facilitated glucose transporter) member 8 SLC2A8 29988 ENSG00000136856 Slc2a8 (MGI:1860103) -chr9 127424381 127446288 9q34 9q33.3 194552 ZNF79 Zinc finger protein-79 (pT7) ZNF79 7633 ENSG00000196152 -chr9 127447673 127451405 9q33.3 9q33.3 180475 RPL12 Ribosomal protein L12 RPL12 6136 ENSG00000197958 Rpl12 (MGI:98002) -chr9 127451485 127503500 9q33.3-q34.11 9q-q 610933 LRSAM1, TAL, RIFLE, CMT2P Leucine-rich repeat- and sterile alpha motif-containing 1 LRSAM1 90678 ENSG00000148356 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3), Autosomal dominant, Autosomal recessive Lrsam1 (MGI:2684789) -chr9 127505338 127579030 9q34.13 9q34.11 614045 FAM129B, MINERVA Family with sequence similarity 129, member B NIBAN2 64855 ENSG00000136830 Niban2 (MGI:2442910) -chr9 127611911 127696028 9q34.1 9q34.11 602926 STXBP1, UNC18, DEE4 Syntaxin-binding protein 1 STXBP1 6812 ENSG00000136854 Developmental and epileptic encephalopathy 4, 612164 (3), Autosomal dominant Stxbp1 (MGI:107363) -chr9 127731523 127735327 9q34.11 9q34.11 608052 TOR2A, TORP1 Torsin 2A TOR2A 27433 ENSG00000160404 Tor2a (MGI:1353596) -chr9 127738316 127778665 9q34.11 9q34.11 604722 SH2D3C, NSP3 SH2 domain-containing protein 3C SH2D3C 10044 ENSG00000095370 Sh2d3c (MGI:1351631) -chr9 127785917 127786006 9q34.11 9q34.11 613405 MIR2861, MIRN2861, BMND15 Micro RNA 2861 MIR2861 100422910 ENSG00000284547 [Bone mineral density QTL 15], 613418 (3), Autosomal dominant, Autosomal recessive Mir2861 (MGI:4441431) -chr9 127786033 127790791 9q34.1 9q34.11 603251 CDK9, CDC2L4 Cyclin-dependent kinase-9 CDK9 1025 ENSG00000136807 Cdk9 (MGI:1328368) -chr9 127802857 127814519 9cen-q34 9q34.11 136510 FPGS Folylpolyglutamate synthetase FPGS 2356 ENSG00000136877 Fpgs (MGI:95576) -chr9 127815011 127854772 9q34.1 9q34.11 131195 ENG, END, HHT1, ORW Endoglin ENG 2022 ENSG00000106991 Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3), Autosomal dominant Eng (MGI:95392) -chr9 127866479 127885541 9q34.1 9q34.11 103000 AK1 Adenylate kinase-1 AK1 203 ENSG00000106992 proximal to Ph1 break, 9q34.1; AK1 to ORM = 17cM Hemolytic anemia due to adenylate kinase deficiency, 612631 (3), Autosomal recessive Ak1 (MGI:87977) -chr9 127885320 127906763 9q34.11 9q34.11 610135 ST6GALNAC6, SIAT7F ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ST6GALNAC6 30815 ENSG00000160408 St6galnac6 (MGI:1355316) -chr9 127907885 127917051 9q31 9q34.11 606378 SIAT7D, SIAT3C Sialyltransferase 7D ST6GALNAC4 27090 ENSG00000136840 St6galnac4 (MGI:1341894) -chr9 127920880 127931957 9q34.11 9q34.11 612865 PIP5KL1, PIPKH Phosphatidylinositol-4-phosphate-5-kinase-like 1 PIP5KL1 138429 ENSG00000167103 Pip5kl1 (MGI:2448520) -chr9 127935098 127937853 9q34.11 9q34.11 603564 DPM2, CDG1U Dolichyl-phosphate mannosyltransferase 2, regulatory subunit DPM2 8818 ENSG00000136908 Congenital disorder of glycosylation, type Iu, 615042 (3), Autosomal recessive Dpm2 (MGI:1330238) -chr9 127940581 127980988 9q34.13 9q34.11 610891 FAM102A, EEIG1 Family with sequence similarity 102, member A FAM102A 399665 ENSG00000167106 Fam102a (MGI:2138935) -chr9 128061232 128067866 9q34.11 9q34.11 610673 C9orf90, NAIF1 Nuclear apoptosis-inducing factor 1 NAIF1 203245 ENSG00000171169 Naif1 (MGI:1918504) -chr9 128120692 128128439 9q34.13 9q34.11 608152 PTGES2, PGES2, GBF1 Prostaglandin E synthase 2 PTGES2 80142 ENSG00000148334 Ptges2 (MGI:1917592) -chr9 128149452 128153452 9q34 9q34.11 600181 LCN2, NGAL Lipocalin 2 (oncogene 24p3) LCN2 3934 ENSG00000148346 Lcn2 (MGI:96757) -chr9 128166064 128204221 9q34 9q34.11 611420 CIZ1, ZNF356, LSFR1, NP94 CDKN1A-interacting zinc finger protein 1 CIZ1 25792 ENSG00000148337 Ciz1 (MGI:1920234) -chr9 128203378 128255243 9q34 9q34.11 602377 DNM1, DEE31 Dynamin-1 DNM1 1759 ENSG00000106976 Developmental and epileptic encephalopathy 31, 616346 (3), Autosomal dominant Dnm1 (MGI:107384) -chr9 128244720 128244829 9q34.11 9q34.11 614791 MIR199B Micro RNA 199B MIR199B 406978 ENSG00000207581 Mir199b (MGI:2676865) -chr9 128255828 128276006 9q34.11 9q34.11 602580 GOLGA2, GM130 Golgin A2 GOLGA2 2801 ENSG00000167110 Golga2 (MGI:2139395) -chr9 128275355 128288988 9q34.11 9q34.11 616528 SWI5, SAE3, C9orf119 SWi5 homologous recombination repair protein SWI5 375757 ENSG00000175854 Swi5 (MGI:1920181) -chr9 128305158 128322446 9q34.11 9q34.11 610727 TRUB2 TRUB pseudouridine synthase, E. coli, homolog of, 2 TRUB2 26995 ENSG00000167112 Trub2 (MGI:2442186) -chr9 128322485 128334071 9q34.13 9q34.11 612898 COQ4, COQ10D7 Coenzyme Q4, S. cerevisiae, homolog of COQ4 51117 ENSG00000167113 Coenzyme Q10 deficiency, primary, 7, 616276 (3), Autosomal recessive Coq4 (MGI:1098826) -chr9 128340515 128361469 9q34 9q34.11 604194 SLC27A4, FATP4, IPS Solute carrier family 27 (fatty acid transporter), member 4 SLC27A4 10999 ENSG00000167114 Ichthyosis prematurity syndrome, 608649 (3), Autosomal recessive Slc27a4 (MGI:1347347) -chr9 128371318 128392015 9q34.11 9q34.11 612693 URM1 Ubiquitin-related modifier 1 URM1 81605 ENSG00000167118 Urm1 (MGI:1915455) -chr9 128405993 128437350 9q34.11 9q34.11 616626 CERCAM Cerebral endothelial cell adhesion molecule CERCAM 51148 ENSG00000167123 Cercam (MGI:2139134) -chr9 128455184 128501291 9q34 9q34.11 602015 ODF2, ODF84 Outer dense fiber of sperm tails 2 ODF2 4957 ENSG00000136811 Odf2 (MGI:1098824) -chr9 128504691 128542291 9q34 9q34.11 603371 GLE1, GLE1L, LCCS, LCCS1, CAAHD Gle1, RNA export mediator, S. cerevisiae, homolog of GLE1 2733 ENSG00000119392 Lethal congenital contracture syndrome 1, 253310 (3), Autosomal recessive; Congenital arthrogryposis with anterior horn cell disease, 611890 (3), Autosomal recessive Gle1 (MGI:1921662) -chr9 128552563 128633661 9q33-q34 9q34.11 182810 SPTAN1, NEAS, DEE5 Spectrin, alpha, nonerythrocytic-1 (alpha-fodrin) SPTAN1 6709 ENSG00000197694 Developmental and epileptic encephalopathy 5, 613477 (3), Autosomal dominant Sptan1 (MGI:98386) -chr9 128633652 128656846 9q34.11 9q34.11 613363 WDR34, SRTD11 WD repeat-containing protein 34 DYNC2I2 89891 ENSG00000119333 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3), Autosomal recessive Dync2i2 (MGI:1919070) -chr9 128683423 128696395 9q34 9q34.11 600960 SET, MRD58 SET gene SET 6418 ENSG00000119335 fused with CAIN in acute undifferentiated leukemia Mental retardation, autosomal dominant 58, 618106 (3), Autosomal dominant Gm9531,Set (MGI:1860267,MGI:3779940) -chr9 128702496 128720917 9q34.11 9q34.11 610714 PKN3 Protein kinase N3 PKN3 29941 ENSG00000160447 Pkn3 (MGI:2388285) -chr9 128729785 128772485 9q34.11 9q34.11 617764 ZER1, ZYG11BL, C9orf60 Zyg11-related cell cycle regulator ZER1 10444 ENSG00000160445 Zer1 (MGI:2442511) -chr9 128787252 128810431 9q34.11 9q34.11 616218 TBC1D13 TBC1 domain family, member 13 TBC1D13 54662 ENSG00000107021 Tbc1d13 (MGI:2385326) -chr9 128818401 128822675 9q34.1 9q34.11 600440 ENDOG Endonuclease G ENDOG 2021 ENSG00000167136 Endog (MGI:1261433) -chr9 128819650 128833308 9q34.11 9q34.11 617614 SPOUT1, CENP32, C9orf114 SPOUT domain-containing methyltransferase 1 SPOUT1 51490 ENSG00000198917 Spout1 (MGI:106544) -chr9 128832941 128882522 9q34.11 9q34.11 600547 KYAT1, CCBL1, KAT1 Kynurenine aminotransferase 1 KYAT1 883 ENSG00000171097 Kyat1 (MGI:1917516) -chr9 128882132 128918041 9q34.13 9q34.11 608360 LRRC8A, KIAA1437, AGM5 Leucine-rich repeat-containing 8A LRRC8A 56262 ENSG00000136802 mutation identified in 1 AGM5 patient ?Agammaglobulinemia 5, 613506 (3), Autosomal dominant Lrrc8a (MGI:2652847) -chr9 128945529 128947602 9q34.11 9q34.11 610746 DOLK, TMEM15, DK1, SEC59, KIAA1094, CDG1M Dolichol kinase DOLK 22845 ENSG00000175283 Congenital disorder of glycosylation, type Im, 610768 (3), Autosomal recessive Dolk (MGI:2677836) -chr9 128947698 129007095 9q34.11 9q34.11 615587 NUP188, KIAA1069, SANDSTEF Nucleoporin, 188kD NUP188 23511 ENSG00000095319 Sandestig-Stefanova syndrome, 618804 (3), Autosomal recessive Nup188 (MGI:2446190) -chr9 129007035 129028330 9q34.11 9q34.11 609288 SH3GLB2, KIAA1848 SH3 domain, GRB2-like, endophilin B2 SH3GLB2 56904 ENSG00000148341 Sh3glb2 (MGI:2385131) -chr9 129036604 129072081 9q34.11 9q34.11 616774 MIGA2, FAM73B, C9orf54 Mitoguardin 2 MIGA2 84895 ENSG00000148343 Miga2 (MGI:1922035) -chr9 129080987 129090437 9q34.1 9q34.11 614516 DOLPP1, LSFR2 Dolichyl pyrophosphate phosphatase 1 DOLPP1 57171 ENSG00000167130 Dolpp1 (MGI:1914093) -chr9 129094793 129110792 9q34.1 9q34.11 600184 CRAT, CAT1, NBIA8 Carnitine acetyltransferase CRAT 1384 ENSG00000095321 mutation identified in 1 NBIA8 patient ?Neurodegeneration with brain iron accumulation 8, 617917 (3), Autosomal recessive Crat (MGI:109501) -chr9 129110948 129148945 9q34 9q34.11 600756 PPP2R4, PTPA Protein phosphatase-2A, regulatory subunit B' (PR 53) PTPA 5524 ENSG00000119383 proximal to ABL Ptpa (MGI:1346006) -chr9 129608871 129636741 9q34.11 9q34.11 613560 NTMT1, METTL11A, NRMT, C9orf32 N-terminal X-Pro-Lys N-methyltransferase 1 NTMT1 28989 ENSG00000148335 Ntmt1 (MGI:1913867) -chr9 129634604 129642150 9q34.11 9q34.11 615051 ASB6 Ankyrin repeat- and SOCS box-containing protein 6 ASB6 140459 ENSG00000148331 Asb6 (MGI:1919573) -chr9 129665646 129722673 9q34.1 9q34.11 604675 PRRX2, PRX2 Paired-related homeo box gene 2 PRRX2 51450 ENSG00000167157 Prrx2 (MGI:98218) -chr9 129738348 129753041 9q34.3 9q34.11 605172 PTGES, PGES, PIG12, MGST1L1 Prostaglandin E synthase PTGES 9536 ENSG00000148344 Ptges (MGI:1927593) -chr9 129803142 129811423 9q34 9q34.11 608050 TOR1B, DQ1 Torsin 1B TOR1B 27348 ENSG00000136816 centromeric to TOR1A; pseudogene on chr.2 Tor1b (MGI:1353605) -chr9 129812941 129824135 9q34 9q34.11 605204 DYT1, TOR1A, AMC5 Torsin A TOR1A 1861 ENSG00000136827 {Dystonia-1, modifier of} (3); Arthrogryposis multiplex congenita 5, 618947 (3), Autosomal recessive; Dystonia-1, torsion, 128100 (3), Autosomal dominant Tor1a (MGI:1353568) -chr9 129835428 129881835 9q34.11 9q34.11 615143 USP20, VDU2 Ubiquitin-specific protease 20 USP20 10868 ENSG00000136878 Usp20 (MGI:1921520) -chr9 129887186 130053845 9q34 9q34.11 606191 FNBP1, FBP17 Formin-binding protein 17 FNBP1 23048 ENSG00000187239 fused with MLL in chronic myeloid leukemia Fnbp1 (MGI:109606) -chr9 130053905 130140163 9q34.11 9q34.11 618490 GPR107, LUSTR1 G protein-coupled receptor 107 GPR107 57720 ENSG00000148358 Gpr107 (MGI:2139054) -chr9 130172403 130237302 9q34 9q34.11 603315 NCS1, FREQ Neuronal calcium sensor 1 NCS1 23413 ENSG00000107130 Ncs1 (MGI:109166) -chr9 130444706 130501273 9q34.1 9q34.11 603470 ASS1, ASS Argininosuccinate synthetase 1 ASS1 445 ENSG00000130707 14 pseudogenes on 11 chromosomes, including X and Y and ASSP2 on 6p23-q12 Citrullinemia, 215700 (3), Autosomal recessive Ass1 (MGI:88090) -chr9 130579576 130638351 9q34.11-q34.12 9q34.11-q34.12 603536 FUBP3, FBP3 FAR upstream element-binding protein 3 FUBP3 8939 ENSG00000107164 Fubp3 (MGI:2443699) -chr9 130664593 130682982 9q34.1 9q34.12 616458 PRDM12, HSAN8 PR domain-containing protein 12 PRDM12 59335 ENSG00000130711 Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive Prdm12 (MGI:2685844) -chr9 130693759 130704893 9q34.12 9q34.12 602238 EXOSC2, RRP4, SHRF Exosome component 2 EXOSC2 23404 ENSG00000130713 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (3), Autosomal recessive Exosc2 (MGI:2385133) -chr9 130713042 130887674 9q34.1 9q34.12 189980 ABL1, CHDSKM ABL protooncogene 1, nonreceptor tyrosine kinase ABL1 25 ENSG00000097007 fusion hybrid gene with BCR1 in CML Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 (3), Somatic mutation; Congenital heart defects and skeletal malformations syndrome, 617602 (3), Autosomal dominant Abl1 (MGI:87859) -chr9 130892706 130896811 9q34.12 9q34.12 609795 QRFP, P518, 26RFA Pyroglutamylated FR-amide peptide precursor protein QRFP 347148 ENSG00000188710 Qrfp (MGI:3630329) -chr9 130902439 130939246 9q34.1 9q34.12 613357 FIBCD1 Fibrinogene C domain-containing protein 1 FIBCD1 84929 ENSG00000130720 Fibcd1 (MGI:2138953) -chr9 131009173 131094472 9q33-q34 9q34.12 604349 LAMC3, OCCM Laminin, gamma-3 LAMC3 10319 ENSG00000050555 Cortical malformations, occipital, 614115 (3), Autosomal recessive Lamc3 (MGI:1344394) -chr9 131100000 133100000 9q34.13 171720 ALPQTL1 Alkaline phosphatase, plasma level of, QTL 1 100196909 linkage with rs657152 {Alkaline phosphatase, plasma level of, QTL1}, 171720 (2), ?Autosomal dominant -chr9 131100000 133100000 9q34.1 612557 CLLS3 Leukemia, chronic lymphocytic, susceptibility to, 3 100270642 associated with SNP -6531 upstream of DAPK1 promoter {Leukemia, chronic lymphocytic, susceptibility to, 3}, 612557 (2) -chr9 131125585 131234662 9q34.1 9q34.13 114350 NUP214, D9S46E, CAN, CAIN, IIAE9 Nucleoporin, 214kD NUP214 8021 ENSG00000126883 fused with DEK in AML; fused with ABL1 in T-ALL Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3); Leukemia, acute myeloid, somatic, 601626 (3); {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426 (3), Autosomal recessive Nup214 (MGI:1095411) -chr9 131289693 131309260 9q34.13 9q34.13 618743 PLPP7, PPAPDC3, NET39, C9orf67 Phospholipid phosphatase 7 PLPP7 84814 ENSG00000160539 Plpp7 (MGI:2445183) -chr9 131502901 131523802 9q34.1 9q34.13 607423 POMT1, MDDGA1, MDDGB1, MDDGC1, LGMDR11 Protein O-mannosyltransferase 1 POMT1 10585 ENSG00000130714 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3), Autosomal recessive Pomt1 (MGI:2138994) -chr9 131523800 131531262 9q34.2 9q34.13 609328 UCK1 Uridine/cytidine kinase 1 UCK1 83549 ENSG00000130717 Uck1 (MGI:98904) -chr9 131576769 131740075 9q34.3 9q34.13 600303 RAPGEF1, GRF2, C3G RAP guanine nucleotide exchange factor 1 RAPGEF1 2889 ENSG00000107263 Rapgef1 (MGI:104580) -chr9 131860109 132079866 9q34 9q34.13 605044 MED27, CRSP8, CRAP34, NEDSCAC Mediator complex subunit 27 MED27 9442 ENSG00000160563 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, 619286 (3), Autosomal recessive Med27 (MGI:1916225) -chr9 132161233 132244533 9q34.13 9q34.13 618689 NTNG2, NEDBASH Netrin G2 NTNG2 84628 ENSG00000196358 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, 618718 (3), Autosomal recessive Ntng2 (MGI:2159341) -chr9 132261355 132356725 9q34 9q34.13 608465 SETX, SCAN2, AOA2, ALS4 Senataxin SETX 23064 ENSG00000107290 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002 (3), Autosomal recessive; Amyotrophic lateral sclerosis 4, juvenile, 602433 (3), Autosomal dominant Setx (MGI:2443480) -chr9 132375547 132406839 9q34.13 9q34.13 600777 TTF1 Transcription termination factor, RNA polymerase I TTF1 7270 ENSG00000125482 Ttf1 (MGI:105044) -chr9 132582605 132590251 9q34 9q34.13 605211 BARHL1 BARH-like 1 BARHL1 56751 ENSG00000125492 Barhl1 (MGI:1859288) -chr9 132592996 132670400 9q34.13 9q34.13 616533 DDX31, PPP1R25 DEAD-box helicase 31 DDX31 64794 ENSG00000125485 Ddx31 (MGI:2682639) -chr9 132670034 132694954 9q34.13 9q34.13 604892 GTF3C4, TFIIIC90 General transcription factor 3C, polypeptide 4 GTF3C4 9329 ENSG00000125484 Gtf3c4 (MGI:2138937) -chr9 132725573 132879045 9q34.13 9q34.13 615365 AK8 Adenylate kinase 8 AK8 158067 ENSG00000165695 Ak8 (MGI:1916120) -chr9 132878319 132890313 9q34.13 9q34.13 618552 SPACA9 Sperm acrosome associated 9 SPACA9 11092 ENSG00000165698 Spaca9 (MGI:1917237) -chr9 132891348 132945268 9q34 9q34.13 605284 TSC1, LAM Hamartin (tuberous sclerosis 1 gene) TSC1 7248 ENSG00000165699 linked to ABO, ABL Focal cortical dysplasia, type II, somatic, 607341 (3); Tuberous sclerosis-1, 191100 (3), Autosomal dominant; Lymphangioleiomyomatosis, 606690 (3) Tsc1 (MGI:1929183) -chr9 132945530 132991696 9q34.13 9q34.13 604383 GFI1B, BDPLT17 Growth factor-independent 1B GFI1B 8328 ENSG00000165702 Bleeding disorder, platelet-type, 17, 187900 (3), Autosomal dominant, Autosomal recessive Gfi1b (MGI:1276578) -chr9 133030688 133058502 9q34.2 9q34.13 604890 GTF3C5, TFIIIC63 General transcription factor 3C, polypeptide 5 GTF3C5 9328 ENSG00000148308 Gtf3c5 (MGI:1917489) -chr9 133061980 133071860 9q34.3 9q34.13 114840 CEL, BSSL, CELL, MODY8 Carboxyl-ester lipase (bile-salt stimulated lipase) CEL 1056 ENSG00000170835 Maturity-onset diabetes of the young, type VIII, 609812 (3), Autosomal dominant Cel (MGI:88374) -chr9 133097721 133149209 9q34 9q34.1-q34.2 601619 RALGDS ral guanine nucleotide dissociation stimulator RALGDS 5900 ENSG00000160271 Ralgds (MGI:107485) -chr9 133152947 133163913 9q34 9q34.2 606074 GBGT1, FS Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (Forssman synthetase) GBGT1 26301 ENSG00000148288 Gbgt1 (MGI:2449143) -chr9 133205278 133223254 9q34 9q34.2 604606 OBP2B Odorant-binding protein 2B OBP2B 29989 ENSG00000171102 Lcn4,Obp2b (MGI:3651927,MGI:102668) -chr9 133250400 133275200 9q34 9q34.2 110300 ABO ABO glycosyltransferase ABO 28 ENSG00000175164 linked to AK1 [Blood group, ABO system], 616093 (3) Abo (MGI:2135738) -chr9 133328775 133336187 9q34 9q34.2 185642 SURF6 Surfeit-6 SURF6 6838 ENSG00000148296 Surf6 (MGI:98447) -chr9 133338311 133348130 9q34 9q34.2 185641 SURF5 Surfeit-5 MED22 6837 ENSG00000148297 Med22 (MGI:98446) -chr9 133348217 133351425 9q34 9q34.2 185640 RPL7A, SURF3 Ribosomal protein L7a (surfeit-3) RPL7A 6130 ENSG00000148303 in cluster with SURF1 Rpl7a (MGI:1353472) -chr9 133351757 133356486 9q34 9q34.2 185620 SURF1, CMT4K, MC4DN1 Surfeit-1 SURF1 6834 ENSG00000148290 distal to ABL, CAN Charcot-Marie-Tooth disease, type 4K, 616684 (3), Autosomal recessive; Mitochondrial complex IV deficiency, nuclear type 1, 220110 (3), Autosomal recessive Surf1 (MGI:98443) -chr9 133356549 133361157 9q34 9q34.2 185630 SURF2 Surfeit-2 SURF2 6835 ENSG00000148291 Surf2 (MGI:98444) -chr9 133361463 133377948 9q34 9q34.2 185660 SURF4 Surfeit-4 SURF4 6836 ENSG00000148248 Surf4 (MGI:98445) -chr9 133376365 133406095 9q34.2 9q34.2 618530 STKLD1, C9orf96 Serine/threonine kinase-like domain containing protein 1 STKLD1 169436 ENSG00000198870 Stkld1 (MGI:2685557) -chr9 133406057 133418171 9q34 9q34.2 602930 REXO4, XPMC2H RNA exonuclease 4, S. cerevisiae, homolog of REXO4 57109 ENSG00000148300 Rexo4 (MGI:2684957) -chr9 133414336 133459402 9q34 9q34.2 604134 ADAMTS13, VWFCP, TTP ADAM metallopeptidase domain with thrombospondin type 1 motif, 13 ADAMTS13 11093 ENSG00000160323 Thrombotic thrombocytopenic purpura, hereditary, 274150 (3), Autosomal recessive Adamts13 (MGI:2685556) -chr9 133459977 133470847 9q34.2 9q34.2 613104 CACFD1, FLOWER, C9orf7 Calcium channel FLOWER-domain containing protein 1 CACFD1 11094 ENSG00000160325 Cacfd1 (MGI:1924317) -chr9 133471093 133479126 9q34 9q34.2 606813 SLC2A6 Solute carrier family 2, member 6 SLC2A6 11182 ENSG00000160326 Slc2a6 (MGI:2443286) -chr9 133514585 133524958 9q34.2 9q34.2 615345 MYMK, TMEM8C Myomaker MYMK 389827 ENSG00000187616 Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive Mymk (MGI:1913389) -chr9 133532163 133575518 9q34.2 9q34.2 612277 ADAMTSL2, KIAA0605, GPHYSD1 ADAMTS-like protein 2 ADAMTSL2 9719 ENSG00000197859 Geleophysic dysplasia 1, 231050 (3), Autosomal recessive Adamtsl2 (MGI:1925044) -chr9 133636362 133659328 9q34 9q34.2 609312 DBH, ORTHYP1 Dopamine-beta-hydroxylase DBH 1621 ENSG00000123454 tightly linked to ABO Orthostatic hypotension 1, due to DBH deficiency, 223360 (3), Autosomal recessive Dbh (MGI:94864) -chr9 133663073 133739957 9q34.2 9q34.2 604455 SARDH, SARD, SAR Sarcosine dehydrogenase SARDH 1757 ENSG00000123453 [Sarcosinemia], 268900 (3), Autosomal recessive Sardh (MGI:2183102) -chr9 133761893 133992373 9q34 9q34.2 600428 VAV2 Oncogene VAV2 VAV2 7410 ENSG00000160293 Vav2 (MGI:102718) -chr9 134030304 134068532 9q34 9q34.2 601541 RING3L, ORFX RING3-like gene (open reading frame X) BRD3 8019 ENSG00000169925 Brd3 (MGI:1914632) -chr9 134164439 134164563 9q34.2 9q34.2 601429 RNU6ATAC, U6ATAC RNA, U6ATAC small nuclear RNU6ATAC 100151684 ENSG00000221676 -chr9 134326454 134440584 9q34.3 9q34.2 180245 RXRA Retinoid X receptor, alpha RXRA 6256 ENSG00000186350 distal to DBH Rxra (MGI:98214) -chr9 134500000 138394717 9q34 614860 DYT23 Dystonia 23 115029024 linkage to D9S159 and D9S1818 Dystonia 23, 614860 (2), Autosomal dominant -chr9 134500000 138394717 9q34 614623 KTCN6 Keratoconus 6 100885802 max lod at 159cM Keratoconus 6, 614623 (2), Autosomal dominant -chr9 134641788 134844842 9q34.2-q34.3 9q34.3 120215 COL5A1, EDSCL1, FMDMF Collagen V, alpha-1 polypeptide COL5A1 1289 ENSG00000130635 Ehlers-Danlos syndrome, classic type, 1, 130000 (3), Autosomal dominant; Fibromuscular dysplasia, multifocal, 619329 (3), Autosomal dominant Col5a1 (MGI:88457) -chr9 134864061 134890505 9q34 9q34.3 601624 FCN2 Ficolin (collagen/fibrinogen domain-containing lectin) 2 FCN2 2220 ENSG00000160339 Fcnb,Fcna (MGI:1341158,MGI:1340905) -chr9 134903231 134917911 9q34 9q34.3 601252 FCN1 Ficolin (collagen/fibrinogen domain-containing) 1 FCN1 2219 ENSG00000085265 Fcnb,Fcna (MGI:1341158,MGI:1340905) -chr9 135075504 135121183 Chr.9 9q34.3 605366 OLFM1, AMY Olfactomedin 1 OLFM1 10439 ENSG00000130558 Olfm1 (MGI:1860437) -chr9 135477649 135488893 9q34.3 9q34.3 614056 PPP1R26, KIAA0649 Protein phosphatase 1, regulatory subunit 26 PPP1R26 9858 ENSG00000196422 Ppp1r26 (MGI:2685193) -chr9 135495180 135499868 9q34.3 9q34.3 614502 C9orf116, PIERCE1 p53-induced expression in RB-null cells 1 C9orf116 138162 ENSG00000160345 1700007K13Rik (MGI:1916577) -chr9 135499964 135504672 9q34 9q34.3 611971 MRPS2, COXPD36 Mitochondrial ribosomal protein S2 MRPS2 51116 ENSG00000122140 Combined oxidative phosphorylation deficiency 36, 617950 (3), Autosomal recessive Mrps2 (MGI:2153089) -chr9 135521295 135526539 9q34 9q34.3 151675 LCN1 Lipocalin 1 (protein migrating faster than albumin, tear prealbumin) LCN1 3933 ENSG00000160349 Lcn3 (MGI:102669) -chr9 135544811 135549968 9q34 9q34.3 164320 OBP2A Odorant-binding protein 2A OBP2A 29991 ENSG00000122136 Lcn3,Lcn4,Obp2b,Obp2a (MGI:3651927,MGI:102668,MGI:102669,MGI:2387617) -chr9 135561626 135566954 9q34 9q34.3 173310 PAEP, PP14 Progestagen-associated endometrial protein (placental protein 14) PAEP 5047 ENSG00000122133 -chr9 135623647 135641223 9q34.3 9q34.3 613699 GLT6D1, GT6M7, GLTDC1 Glycosyltransferase 6 domain-containing 1 GLT6D1 360203 ENSG00000204007 Glt6d1 (MGI:1918353) -chr9 135663308 135670730 9q34 9q34.3 612903 LCN9 Lipocalin 9 LCN9 392399 Lcn9 (MGI:1924954) -chr9 135691861 135702111 9q34.3 9q34.3 610224 SOHLH1, NOHLH, TEB2, ODG5, SPGF32 Spermatogenesis- and oogenesis-specific basic helix-loop-helix protein 1 SOHLH1 402381 ENSG00000165643 Ovarian dysgenesis 5, 617690 (3), Autosomal recessive; Spermatogenic failure 32, 618115 (3), Autosomal dominant Sohlh1 (MGI:2684956) -chr9 135702184 135795501 9q34.3 9q34.3 608167 KCNT1, KIAA1422, DEE14, ENFL5 Potassium channel, subfamily T, member 1 KCNT1 57582 ENSG00000107147 Developmental and epileptic encephalopathy 14, 614959 (3), Autosomal dominant; Epilepsy nocturnal frontal lobe, 5, 615005 (3), Autosomal dominant Kcnt1 (MGI:1924627) -chr9 135808486 135907550 9q34.3 9q34.3 613774 CAMSAP1 Calmodulin-regulated spectrin-associated protein 1 CAMSAP1 157922 ENSG00000130559 Camsap1 (MGI:3036242) -chr9 135932968 135961372 9q34.3 9q34.3 608129 UBAC1, GBDR1 Ubiquitin-associated domain-containing protein 1 UBAC1 10422 ENSG00000130560 Ubac1 (MGI:1920995) -chr9 136006536 136095288 9q34.3 9q34.3 615786 NACC2, RBB NACC family, member 2, BEN and BTB/POZ domains-containing NACC2 138151 ENSG00000148411 Nacc2 (MGI:1915241) -chr9 136196249 136205127 9q34.3 9q34.3 600577 LHX3, CPHD3 LIM/homeodomain protein LHX3 LHX3 8022 ENSG00000107187 in mouse, close to Notch1; centromeric to ABL Pituitary hormone deficiency, combined, 3, 221750 (3), Autosomal recessive Lhx3 (MGI:102673) -chr9 136206332 136245811 9q34.3 9q34.3 612860 QSOX2, SOXN Quiescin Q6 sulfhydryl oxidase 2 QSOX2 169714 ENSG00000165661 Qsox2 (MGI:2387194) -chr9 136327538 136359604 9q34.3 9q34.3 609491 GPSM1, AGS3 G-protein signaling modulator 1 GPSM1 26086 ENSG00000160360 Gpsm1 (MGI:1915089) -chr9 136363955 136373668 9q34.3 9q34.3 607212 CARD9, CANDF2 Caspase recruitment domain-containing protein 9 CARD9 64170 ENSG00000187796 Candidiasis, familial, 2, autosomal recessive, 212050 (3), Autosomal recessive Card9 (MGI:2685628) -chr9 136375570 136400169 9q34.3 9q34.3 602777 SNAPC4, SNAP190 Small nuclear RNA-activating protein complex, polypeptide 4 SNAPC4 6621 ENSG00000165684 Snapc4 (MGI:2443935) -chr9 136401921 136410613 9q34.3 9q34.3 618289 ENTR1, SDDAG3 Endosome-associated trafficking regulator 1 ENTR1 10807 ENSG00000165689 Entr1 (MGI:1915362) -chr9 136410657 136423760 9q34.3 9q34.3 613036 PMPCA, KIAA0123, SCAR2 Peptidase, mitochondrial processing, alpha PMPCA 23203 ENSG00000165688 Spinocerebellar ataxia, autosomal recessive 2, 213200 (3), Autosomal recessive Pmpca (MGI:1918568) -chr9 136428618 136439860 9q34.3 9q34.3 613037 INPP5E, MORMS, JBTS1, CORS1 Inositol polyphosphate-5-phosphatase, 72kD INPP5E 56623 ENSG00000148384 Joubert syndrome 1, 213300 (3), Autosomal recessive; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3), Autosomal recessive Inpp5e (MGI:1927753) -chr9 136440095 136484551 9q34.3 9q34.3 612854 SEC16A, SEC16L, KIAA0310, p250 SEC16 homolog A, endoplasmic reticulum export factor SEC16A 9919 ENSG00000148396 Sec16a (MGI:2139207) -chr9 136494432 136546047 9q34.3 9q34.3 190198 NOTCH1, TAN1, AOS5, AOVD1 Notch receptor 1 NOTCH1 4851 ENSG00000148400 Adams-Oliver syndrome 5, 616028 (3), Autosomal dominant; Aortic valve disease 1, 109730 (3), Autosomal dominant Notch1 (MGI:97363) -chr9 136654752 136672677 9q34.3 9q34.3 608582 EGFL7 Epidermal growth factor-like 7 EGFL7 51162 ENSG00000172889 Egfl7 (MGI:2449923) -chr9 136670601 136670685 9q34.3 9q34.3 611767 MIR126, MIRN126 Micro RNA 126 MIR126 406913 ENSG00000199161 Mir126a (MGI:2676811) -chr9 136673142 136687456 9q34.3 9q34.3 603100 AGPAT2, LPAAB, BSCL, BSCL1 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta) AGPAT2 10555 ENSG00000169692 Lipodystrophy, congenital generalized, type 1, 608594 (3), Autosomal recessive Agpat2 (MGI:1914762) -chr9 136712571 136724741 9q34.3 9q34.3 614543 FAM69B Family with sequence similarity 69, member B DIPK1B 138311 ENSG00000165716 Dipk1b (MGI:1927576) -chr9 136738169 136742939 9q34 9q34.3 612904 LCN10 Lipocalin 10 LCN10 414332 ENSG00000187922 Lcn10 (MGI:1925000) -chr9 136744016 136748524 9q34 9q34.3 609379 LCN6 Lipocalin 6 LCN6 158062 ENSG00000267206 Lcn6 (MGI:3045364) -chr9 136754385 136758550 9q34 9q34.3 612902 LCN8 Lipocalin 8 LCN8 138307 ENSG00000204001 Lcn8 (MGI:2135945) -chr9 136796337 136807740 9q34.3 9q34.3 615955 CCDC183, KIAA1984 Coiled-coil domain-containing protein 183 CCDC183 84960 ENSG00000213213 Ccdc183 (MGI:1924308) -chr9 136807947 136841186 9q34.3 9q34.3 610615 RABL6, PARF, C9orf86 RAB-like protein 6 RABL6 55684 ENSG00000196642 Rabl6 (MGI:2442633) -chr9 136849408 136851023 9q34.3 9q34.3 610167 PHPT1 Phosphohistidine phosphatase 1 PHPT1 29085 ENSG00000054148 Phpt1 (MGI:1922704) -chr9 136852345 136860798 9q34.3 9q34.3 617208 MAMDC4 MAM domain-containing protein 4 MAMDC4 158056 ENSG00000177943 Mamdc4 (MGI:2685841) -chr9 136862118 136866307 9q34.3 9q34.3 605107 EDF1 Endothelial differentiation-related factor 1 EDF1 8721 ENSG00000107223 Edf1 (MGI:1891227) -chr9 136881932 136926614 9q34.3 9q34.3 601895 TRAF2, TRAP TNF receptor-associated factor 2 TRAF2 7186 ENSG00000127191 Traf2 (MGI:101835) -chr9 136940434 136944773 9q34.3 9q34.3 609072 FBXW5, FBW5 F-box and WD40 domain protein 5 FBXW5 54461 ENSG00000159069 Fbxw5 (MGI:1354731) -chr9 136944869 136946980 9q34.3 9q34.3 120930 C8G Complement component-8, gamma polypeptide C8G 733 ENSG00000176919 C8g (MGI:88237) -chr9 136949179 136955504 9q34 9q34.3 612905 LCN12 Lipocalin 12 LCN12 286256 ENSG00000184925 Lcn12 (MGI:1924951) -chr9 136977503 136981741 9q34.2-q34.3 9q34.3 176803 PTGDS Prostaglandin D2 synthase (21kD, brain) PTGDS 5730 ENSG00000107317 distal to ABL Ptgds (MGI:99261) -chr9 136992421 136993975 9q34.3 9q34.3 616315 PAXX, C9orf142 PAXX nonhomologous end joining factor PAXX 286257 ENSG00000148362 Paxx (MGI:2442831) -chr9 136994607 136997928 Chr.9 9q34.3 606533 CLIC3 Chloride intracellular channel 3 CLIC3 9022 ENSG00000169583 Clic3 (MGI:1916704) -chr9 137007233 137028921 9q34 9q34.3 600047 ABCA2, ABC2, IDPOGSA ATP-binding cassette 2 ABCA2 20 ENSG00000107331 Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 (3), Autosomal recessive Abca2 (MGI:99606) -chr9 137030173 137032087 Chr.9 9q34.3 602030 FUT7 Fucosyltransferase 7 (alpha (1,3) fucosyltransferase) FUT7 2529 ENSG00000180549 Fut7 (MGI:107692) -chr9 137039462 137046176 Chr.9 9q34.3 605798 NPDC1, CAB1 Neural proliferation, differentiation, and control protein 1 NPDC1 56654 ENSG00000107281 Npdc1 (MGI:1099802) -chr9 137048106 137054060 9q34 9q34.3 602012 ENTPD2, CD39L1 Ectonucleoside triphosphate diphosphohydrolase 2 ENTPD2 954 ENSG00000054179 same cosmid as ABC2 Entpd2 (MGI:1096863) -chr9 137062126 137070558 9q34.3 9q34.3 612057 SAPCD2, C9orf140, P42.3 Suppressor APC domain-containing protein 2 SAPCD2 89958 ENSG00000186193 Sapcd2 (MGI:1919330) -chr9 137086940 137109182 9q34.3 9q34.3 604346 MAN1B1, MRT15 Mannosidase, alpha, class 1B member 1 MAN1B1 11253 ENSG00000177239 Rafiq syndrome, 614202 (3), Autosomal recessive Man1b1 (MGI:2684954) -chr9 137110539 137117979 9q34.3 9q34.3 610537 DPP7, QPP Dipeptidyl peptidase VII DPP7 29952 ENSG00000176978 Dpp7 (MGI:1933213) -chr9 137139091 137168758 9q34.3 9q34.3 138249 GRIN1, NMDAR1, NDHMSR, NDHMSD Glutamate receptor, ionotropic, N-methyl D-aspartate 1 GRIN1 2902 ENSG00000176884 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3), Autosomal recessive; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3), Autosomal dominant Grin1 (MGI:95819) -chr9 137168757 137170050 9q34.3 9q34.3 613505 LRRC26, CAPC Leucine-rich repeat-containing protein 26 LRRC26 389816 ENSG00000184709 Lrrc26 (MGI:2385129) -chr9 137174783 137188584 Chr.9 9q34.3 606946 ANAPC2, APC2, KIAA1406 Anaphase-promoting complex, subunit 2 ANAPC2 29882 ENSG00000176248 Anapc2 (MGI:2139135) -chr9 137188675 137190365 9q34.3 9q34.3 610882 SSNA1, NA14 Sjogren syndrome nuclear autoantigen 1 SSNA1 8636 ENSG00000176101 Ssna1 (MGI:1915725) -chr9 137191618 137200740 9q34.3 9q34.3 613354 TPRN, C9orf75, DFNB79 Taperin TPRN 286262 ENSG00000176058 Deafness, autosomal recessive 79, 613307 (3), Autosomal recessive Tprn (MGI:2139535) -chr9 137204081 137205647 9q34.3 9q34.3 616499 TMEM203 Transmembrane protein 203 TMEM203 94107 ENSG00000187713 Tmem203 (MGI:2443597) -chr9 137205666 137219360 9q34.3 9q34.3 606073 NR1 NADPH-dependent FMN- and FAD-containing oxidoreductase NDOR1 27158 ENSG00000188566 Ndor1 (MGI:1926047) -chr9 137220258 137223407 9q34.3 9q34.3 618993 RNF208 RING finger protein 208 RNF208 727800 ENSG00000212864 Rnf208 (MGI:1916096) -chr9 137230756 137236554 9q34 9q34.3 609826 SLC34A3, NPTIIC, HHRH Solute carrier family 34 (sodium/phosphate cotransporter), member 3 SLC34A3 142680 ENSG00000198569 Hypophosphatemic rickets with hypercalciuria, 241530 (3), Autosomal recessive Slc34a3 (MGI:2159410) -chr9 137241286 137243706 9q34.3 9q34.3 602660 TUBB4B, TUBB2C, LCAEOD Tubulin, beta-4B TUBB4B 10383 ENSG00000188229 Leber congenital amaurosis with early-onset deafness, 617879 (3), Autosomal dominant Tubb4b (MGI:1915472) -chr9 137255326 137273541 9q34 9q34.3 611180 NELFB, COBRA1, KIAA1182 Negative elongation factor complex, member B NELFB 25920 ENSG00000188986 Nelfb (MGI:1931035) -chr9 137423371 137434405 9q34.3 9q34.3 611255 NOXA1 NADPH oxidase activator 1 NOXA1 10811 ENSG00000188747 Noxa1 (MGI:2449980) -chr9 137434363 137441709 9q34 9q34.3 616748 ENTPD8 Ectonucleoside triphosphate diphosphohydrolase 8 ENTPD8 377841 ENSG00000188833 Entpd8 (MGI:1919340) -chr9 137447569 137459333 9q34.3 9q34.3 608137 NSMF, NELF, HH9 NMDA receptor synaptonuclear signaling and neuronal migration factor NSMF 26012 ENSG00000165802 Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3), Autosomal dominant Nsmf (MGI:1861755) -chr9 137459398 137550665 9q34.3 9q34.3 612122 PNPLA7 Patatin-like phospholipase domain containing 7 PNPLA7 375775 ENSG00000130653 Pnpla7 (MGI:2385325) -chr9 137551878 137552554 9q34.3 9q34.3 611846 MRPL41, MRPL27 Mitochondrial ribosomal protein L41 MRPL41 64975 ENSG00000182154 Mrpl41 (MGI:1333816) -chr9 137554443 137578924 9q34.3 9q34.3 613210 DPH7, WDR85 Diphthamide biosynthesis 7 DPH7 92715 ENSG00000148399 Dph7 (MGI:1914478) -chr9 137582078 137590511 9q34.3 9q34.3 611424 ZMYND19, MIZIP Zinc finger MYND domain-containing protein 19 ZMYND19 116225 ENSG00000165724 Zmynd19 (MGI:1914437) -chr9 137619000 137836126 9q34.3 9q34.3 607001 EHMT1, EUHMTASE1, KMT1D, DEL9q34, KLEFS1 Euchromatic histone methyltransferase 1 EHMT1 79813 ENSG00000181090 Kleefstra syndrome 1, 610253 (3), Autosomal dominant Ehmt1 (MGI:1924933) -chr9 137877781 138124618 9q34 9q34.3 601012 CACNA1B, CACNL1A5, NEDNEH Calcium channel, voltage-dependent, L type, alpha 1B subunit CACNA1B 774 ENSG00000148408 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 (3), Autosomal recessive Cacna1b (MGI:88296) -chr9 0 138394717 Chr.9 187290 H142T Temperature sensitivity complementation, H142 8023 -chr10 0 39800000 10p 603188 BMIQ8 Body mass index quantitative trait locus 8 56694 {Obesity, susceptibility to, BMIQ8}, 603188 (2) -chr10 0 39800000 10p 607499 BULN Bulimia nervosa, susceptibility to 337893 between D10S1430 and D10S1423 {Bulimia nervosa, susceptibility to}, 607499 (2), Multifactorial -chr10 0 51100000 10pter-q11 601188 ST12, PAC1 Suppression of tumorigenicity 12, prostate Prostate adenocarcinoma, 601188 (2) -chr10 46436 76620 10p15.3 10p15.3 616768 TUBB8, OOMD2 Tubulin, beta 8 TUBB8 347688 ENSG00000261456 Oocyte maturation defect 2, 616780 (3), Autosomal dominant, Autosomal recessive -chr10 130087 254636 10p14 10p15.3 608668 ZMYND11, BS69, BRAM1, MRD30 Zinc finger MYND domain-containing protein 11 ZMYND11 10771 ENSG00000015171 Mental retardation, autosomal dominant 30, 616083 (3), Autosomal dominant Zmynd11 (MGI:1913755) -chr10 274200 689709 10p15.3 10p15.3 611380 DIP2C, KIAA0934 Disco-interacting protein 2 homolog C DIP2C 22982 ENSG00000151240 Dip2c (MGI:1920179) -chr10 806913 931899 10p15.3 10p15.3 616513 LARP4B, LARP5, KIAA0217 La ribonucleoprotein 4B LARP4B 23185 ENSG00000107929 Larp4b (MGI:106330) -chr10 988433 1019931 10p15.3 10p15.3 619169 GTPBP4, CRFG CTP-binding protein 4 GTPBP4 23560 ENSG00000107937 Gtpbp4 (MGI:1916487) -chr10 1018909 1025858 10p15 10p15.3 615389 IDI2, IPPI2 Isopentenyl-diphosphate delta isomerase 2 IDI2 91734 ENSG00000148377 Idi2,Gm9745 (MGI:2444315,MGI:3704398) -chr10 1022636 1044200 10p15 10p15.3 615391 IDI2AS1 IDI2 antisense RNA 1, noncoding IDI2-AS1 55853 ENSG00000232656 -chr10 1039151 1056703 10p15 10p15.3 604055 IDI1 Isopentenyl-diphosphate delta isomerase 1 IDI1 3422 ENSG00000067064 Idi1 (MGI:2442264) -chr10 1056384 1132371 16q12.1 10p15.3 618586 WDR37, NOCGUS WD repeat-containing protein 37 WDR37 22884 ENSG00000047056 Neurooculocardiogenitourinary syndrome, 618652 (3), Autosomal dominant Wdr37 (MGI:1920393) -chr10 1177312 1737524 10p15 10p15.3 602065 ADARB2, RED2 Adenosine deaminase, RNA-specific, B2 (homolog of rat BLUE) ADARB2 105 ENSG00000185736 Adarb2 (MGI:2151118) -chr10 3067474 3136804 10p15.3-p15.2 10p15.2 171840 PFKP Phosphofructokinase, platelet type PFKP 5214 ENSG00000067057 Pfkp (MGI:1891833) -chr10 3137726 3172840 10p15.2 10p15.2 618211 PITRM1, MP1, PREP, SCAR30 Pitrilysin metallopeptidase 1 PITRM1 10531 ENSG00000107959 Spinocerebellar ataxia, autosomal recessive 30, 619405 (3), Autosomal recessive Pitrm1 (MGI:1916867) -chr10 3775995 3785208 10p15 10p15.2 602053 KLF6, COPEB, BCD1, ZF9 Kruppel-like factor-6 KLF6 1316 ENSG00000067082 Gastric cancer, somatic, 613659 (3); Prostate cancer, somatic, 176807 (3) Klf6 (MGI:1346318) -chr10 3800000 6600000 10p15.1 612594 MS2 Multiple sclerosis, susceptibility to, 2 100271694 associated with rs12722489 and rs2104286 {Multiple sclerosis, susceptibility to, 2}, 612594 (2) -chr10 3800000 6600000 10p15 611384 PFFE1 Plasmodium falciparum fever episodes QTL1 101910199 {Plasmodium falciparum fever episodes QTL1}, 611384 (2) -chr10 4824553 4908420 10p15.1 10p15.1 617451 AKR1E2, HTSP, TAKR Aldo-keto reductase family 1, member E2 AKR1E2 83592 ENSG00000165568 Akr1e1 (MGI:1914758) -chr10 4963414 4983282 10p15-p14 10p15.1 600449 AKR1C1, DDH1, DD1, HAKRC Aldo-keto reductase family 1, member 1 (dihydrodiol dehydrogenase, type 1) AKR1C1 1645 ENSG00000187134 Akr1c21,Akr1cl,Akr1c20,Akr1c12,Akr1c14,Akr1c13,Akr1c18,Akr1c19,Akr1c6 (MGI:1924587,MGI:1351661,MGI:1351662,MGI:1918111,MGI:2145458,MGI:2151104,MGI:2653678,MGI:1933427,MGI:2145420) -chr10 4987774 5017999 10p15-p14 10p15.1 600450 AKR1C2, DDH2, DD2, HAKRD, SRXY8 Aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase, type II) AKR1C2 1646 ENSG00000151632 46XY sex reversal 8, 614279 (3), Autosomal recessive Akr1c21,Akr1cl,Akr1c20,Akr1c12,Akr1c14,Akr1c13,Akr1c18,Akr1c19,Akr1c6 (MGI:1924587,MGI:1351661,MGI:1351662,MGI:1918111,MGI:2145458,MGI:2151104,MGI:2653678,MGI:1933427,MGI:2145420) -chr10 5048780 5107685 10p15-p14 10p15.1 603966 AKR1C3, HAKRB, DD3 Aldo-keto reductase family 1, member C3 AKR1C3 8644 ENSG00000196139 Akr1c21,Akr1cl,Akr1c20,Akr1c12,Akr1c14,Akr1c13,Akr1c18,Akr1c19,Akr1c6 (MGI:1924587,MGI:1351661,MGI:1351662,MGI:1918111,MGI:2145458,MGI:2151104,MGI:2653678,MGI:1933427,MGI:2145420) -chr10 5196836 5218948 10p15-p14 10p15.1 600451 AKR1C4, CHDR, CDR, HAKRA, DD4 Aldo-keto reductase family 1, member C4 (chlordecone reductase) AKR1C4 1109 ENSG00000198610 {46XY sex reversal 8, modifier of}, 614279 (3), Autosomal recessive Akr1c21,Akr1cl,Akr1c20,Akr1c12,Akr1c14,Akr1c13,Akr1c18,Akr1c19,Akr1c6 (MGI:1924587,MGI:1351661,MGI:1351662,MGI:1918111,MGI:2145458,MGI:2151104,MGI:2653678,MGI:1933427,MGI:2145420) -chr10 5364965 5374691 10p15.1 10p15.1 605901 UCN3, SCP Urocortin III UCN3 114131 ENSG00000178473 Ucn3 (MGI:1932970) -chr10 5412556 5459055 10p15.1 10p15.1 606450 NET1 Neuroepithelial cell transforming gene 1 NET1 10276 ENSG00000173848 Net1 (MGI:1927138) -chr10 5498696 5499569 10p15.1 10p15.1 605183 CALML5 Calmodulin-like 5 CALML5 51806 ENSG00000178372 Calm4,Calm5 (MGI:1931464,MGI:3511177) -chr10 5524960 5526770 10pter-p13 10p15.1 114184 CALML3 Calmodulin-like 3 CALML3 810 ENSG00000178363 Calml3 (MGI:1917655) -chr10 5594983 5596117 10p15.1 10p15.1 618938 LASTR, LINC02657 Long noncoding RNA associated with SART3 regulation of splicing LASTR 105376382 ENSG00000242147 -chr10 5638866 5666594 10p15.1 10p15.1 615055 ASB13 Ankyrin repeat- and SOCS box-containing protein 13 ASB13 79754 ENSG00000196372 Asb13 (MGI:2145525) -chr10 5765221 5813433 10p15 10p15.1 600767 GDI2, RABGDIB GDP dissociation inhibitor 2 GDI2 2665 ENSG00000057608 pseudogene on chr.7 Gdi2 (MGI:99845) -chr10 5861615 5889892 10p15.1 10p15.1 618017 ANKRD16 Ankyrin repeat domain-containing protein 16 ANKRD16 54522 ENSG00000134461 Ankrd16 (MGI:2444796) -chr10 5889571 5937592 10p15.1 10p15.1 607222 FBXO18, FBH1, FBX18 F-box only protein 18 FBH1 84893 ENSG00000134452 Fbh1 (MGI:1354699) -chr10 5948896 5978740 10p15-p14 10p15.1 601070 IL15RA Interleukin-15 receptor, alpha IL15RA 3601 ENSG00000134470 Il15ra (MGI:104644) -chr10 6010688 6062366 10p15.1 10p15.1 147730 IL2RA, CD25, IL2R, IDDM10, IMD41 Interleukin-2 receptor, alpha IL2RA 3559 ENSG00000134460 Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3), Autosomal recessive; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3) Il2ra (MGI:96549) -chr10 6089033 6117446 10p15.1 10p15.1 606935 RBM17, SPF45 RNA binding motif protein 17 RBM17 84991 ENSG00000134453 Rbm17 (MGI:1924188) -chr10 6144917 6254647 10p15-p14 10p15.1 605319 PFKFB3, IPFK2 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 PFKFB3 5209 ENSG00000170525 Pfkfb3 (MGI:2181202) -chr10 6393037 6580645 10p15 10p15.1 600448 PRKCQ Protein kinase C, theta PRKCQ 5588 ENSG00000065675 Prkcq (MGI:97601) -chr10 6600000 29300000 10p14-p12 604401 ARVD6 Arrhythmogenic right ventricular dysplasia 6 27038 Arrhythmogenic right ventricular dysplasia 6, 604401 (2) -chr10 6600000 12200000 10p14 612230 CRCS5 Colorectal cancer, susceptibility to, 5 100188887 associated with rs10795668 {Colorectal cancer, susceptibility to, 5}, 612230 (2) -chr10 6600000 17300000 10p14-p13 601362 DGCR2, DGS2 DiGeorge syndrome chromosome region-2 8026 DiGeorge syndrome/velocardiofacial syndrome complex-2, 601362 (2) -chr10 7158623 7411489 10p14 10p14 615392 SFMBT2, KIAA1617 SCM-like protein with 4 MBT domains 2 SFMBT2 57713 ENSG00000198879 Sfmbt2 (MGI:2447794) -chr10 7559269 7666967 10p15 10p14 609783 ITIH5 Inter-alpha-trypsin inhibitor, heavy chain 5 ITIH5 80760 ENSG00000123243 Itih5 (MGI:1925751) -chr10 7703315 7749519 10p15 10p14 146640 ITIH2 Inter-alpha (globulin) inhibitor, H2 polypeptide ITIH2 3698 ENSG00000151655 Itih2 (MGI:96619) -chr10 7750961 7787992 10p15-p14 10p14 601720 KIN, KIN17, BTCD Antigenic determinant of recombination protein A, mouse, homolog of KIN 22944 ENSG00000151657 Kin (MGI:96676) -chr10 7788158 7807800 10p15.1 10p14 108729 ATP5F1C, ATP5C1, ATP5CL1, ATP5C ATP synthase F1, subunit gamma ATP5F1C 509 ENSG00000165629 Atp5c1 (MGI:1261437) -chr10 7818504 8016630 10p14 10p14 606576 TAF3, TAFII140 TAF3 RNA polymerase II, TATA box-binding protein-associated factor, 140kD TAF3 83860 ENSG00000165632 Taf3 (MGI:2388097) -chr10 8045419 8075197 10p15 10p14 131320 GATA3, HDR, HDRS GATA-binding protein-3 GATA3 2625 ENSG00000107485 Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3), Autosomal dominant Gata3 (MGI:95663) -chr10 10462514 11336674 10p13 10p14 602538 CELF2, CUGBP2, ETR3, BRUNOL3 CUGbp- and ELAV-like family, member 2 CELF2 10659 ENSG00000048740 Celf2 (MGI:1338822) -chr10 11460509 11611649 10p13 10p14 605405 USP6NL, RNTRE USP6 N-terminal-like USP6NL 9712 ENSG00000148429 Usp6nl (MGI:2138893) -chr10 11920021 12043169 10p15-p13 10p14 605529 UPF2, RENT2 UPF2 regulator of nonsense-mediated mRNA decay UPF2 26019 ENSG00000151461 Upf2 (MGI:2449307) -chr10 12068953 12123220 10p14 10p14 614984 DHTKD1, KIAA1630, AAKAD, CMT2Q Dehydrogenase E1 and transketolase domains-containing protein 1 DHTKD1 55526 ENSG00000181192 mutation identified in 1 CMT2Q family ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3), Autosomal dominant; Alpha-aminoadipic and alpha-ketoadipic aciduria, 204750 (3), Autosomal recessive Dhtkd1 (MGI:2445096) -chr10 12129640 12169957 10p14 10p14 618271 SEC61A2 SEC61 translocon, alpha-2 subunit SEC61A2 55176 ENSG00000065665 Sec61a2 (MGI:1931071) -chr10 12165329 12195890 10p14 10p14 609230 NUDT5, YSA1H Nudix hydrolase 5 NUDT5 11164 ENSG00000165609 Nudt5 (MGI:1858232) -chr10 12196187 12250588 10p14-p13 10p14-p13 617708 CDC123 Cell division cycle 123 CDC123 8872 ENSG00000151465 Cdc123 (MGI:2138811) -chr10 12200000 17300000 10p13 606187 AD7 Alzheimer disease 7 114475 max LOD at D10S1423 Alzheimer disease-7, 606187 (2) -chr10 12200000 17300000 10p13 609888 LPRS Leprosy, paucibacillary type, susceptibility to 81861 {Leprosy, paucibacillary type, susceptibility to}, 609888 (2) -chr10 12349513 12835544 10p13 10p13 607957 CAMK1D, CKLIK Calcium/calmodulin-dependent protein kinase I-delta CAMK1D 57118 ENSG00000183049 Camk1d (MGI:2442190) -chr10 13100081 13138307 10p15-p14 10p13 602432 OPTN, GLC1E, FIP2, HYPL, NRP, ALS12 Optineurin OPTN 10133 ENSG00000123240 Glaucoma 1, open angle, E, 137760 (3), Autosomal dominant; Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, 613435 (3); {Glaucoma, normal tension, susceptibility to}, 606657 (3) Optn (MGI:1918898) -chr10 13161557 13211109 10p13 10p13 609357 MCM10, CNA43, IMD80 Minichromosome maintenance 10, S. cerevisiae, homolog of MCM10 55388 ENSG00000065328 Immunodeficiency 80 with or without cardiomyopathy, 619313 (3), Autosomal recessive Mcm10 (MGI:1917274) -chr10 13277798 13300063 10pter-p11.2 10p13 602026 PHYH, PAHX Phytanoyl-CoA hydroxylase PHYH 5264 ENSG00000107537 Refsum disease, 266500 (3), Autosomal recessive Phyh (MGI:891978) -chr10 13317427 13348292 10p13 10p13 600902 SEPHS1, SPS1 Selenophosphate synthetase 1 SEPHS1 22929 ENSG00000086475 Sephs1 (MGI:1923580) -chr10 13586810 13645343 10p13 10p13 604993 PRPF18, PRP18 Pre-mRNA processing factor 18 PRPF18 8559 ENSG00000165630 Prpf18 (MGI:1914479) -chr10 13638299 14330923 10p13 10p13 616305 FRMD4A, KIAA1294, CCAFCA FERM domain-containing protein 4A FRMD4A 55691 ENSG00000151474 mutation identified in 1 CCAFCA family ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3), Autosomal recessive Frmd4a (MGI:1919850) -chr10 14819244 14838072 10p13 10p13 611233 ARMETL1, CDNF Arginine-rich protein mutated in early stage tumors-like 1 CDNF 441549 ENSG00000185267 Cdnf (MGI:3606576) -chr10 14838305 14871740 10p12.3 10p13 610369 HSPA14, HSP70L1 Heat-shock 70kD protein 14 HSPA14 51182 ENSG00000187522 Hspa14 (MGI:1354164) -chr10 14878865 14904314 10p13 10p13 606503 SUV39H2, FLJ23414 Suppressor of variegation 3-9, Drosophila, homolog of, 2 SUV39H2 79723 ENSG00000152455 Suv39h2 (MGI:1890396) -chr10 14897358 14954431 10p 10p13 605988 DCLRE1C, ARTEMIS, SCIDA DNA cross-link repair protein 1C DCLRE1C 64421 ENSG00000152457 Severe combined immunodeficiency, Athabascan type, 602450 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive Dclre1c (MGI:2441769) -chr10 14954227 14988049 10p13 10p13 614174 MEIG1 Meiosis-expressed gene 1, mouse, homolog of MEIG1 644890 ENSG00000197889 Meig1 (MGI:1202878) -chr10 15097216 15104256 10p13 10p13 606116 RPP38 Ribonuclease P/MRP subunit p38 RPP38 10557 ENSG00000152464 Rpp38 (MGI:2443607) -chr10 15104587 15168692 10p13 10p13 603801 NMT2 N-myristoyltransferase 2 NMT2 9397 ENSG00000152465 Nmt2 (MGI:1202298) -chr10 15513953 15720328 10p13 10p13 604063 ITGA8, RHDA1 Integrin, alpha-8 ITGA8 8516 ENSG00000077943 Renal hypodysplasia/aplasia 1, 191830 (3), Autosomal recessive Itga8 (MGI:109442) -chr10 15778168 15860509 10p13 10p13 611649 MINDY3, C10orf97, CARP MINDY lysine-48 deubiquitinase 3 MINDY3 80013 ENSG00000148481 Mindy3 (MGI:1914210) -chr10 16436942 16517961 10p12 10p13 604446 PTER Phosphotriesterase-related protein PTER 9317 ENSG00000165983 Pter (MGI:107372) -chr10 16513733 16521878 10p13 10p13 615227 C1QL3, CTRP13, K100 Complement component 1, q subcomponent-like 3 C1QL3 389941 ENSG00000165985 C1ql3 (MGI:2387350) -chr10 16590610 16817450 10p13 10p13 179555 RSU1 Ras suppressor protein 1 RSU1 6251 ENSG00000148484 Rsu1 (MGI:103040) -chr10 16823965 17130491 10p12.1 10p13 602997 CUBN, IFCR, IGS1 Cubilin (intrinsic factor-cobalamin receptor) CUBN 8029 ENSG00000107611 [Proteinuria, chronic benign], 618884 (3), Autosomal recessive; Imerslund-Grasbeck syndrome 1, 261100 (3), Autosomal recessive Cubn (MGI:1931256) -chr10 17137335 17202065 10p15.1 10p13 602478 TRDMT1, DMNT2 tRNA aspartic acid methyltransferase 1 (DNA methyltransferase 2) TRDMT1 1787 ENSG00000107614 Trdmt1 (MGI:1274787) -chr10 17228240 17237592 10p13 10p13 193060 VIM, CTRCT30 Vimentin VIM 7431 ENSG00000026025 Cataract 30, pulverulent, 116300 (3), Autosomal dominant Vim (MGI:98932) -chr10 17315413 17455965 10p12.31 10p12.33 610139 ST8SIA6, SIAT8F ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ST8SIA6 338596 ENSG00000148488 St8sia6 (MGI:2386797) -chr10 17589031 17617373 10p12.33 10p12.33 610467 HACD1, PTPLA 3-hydroxyacyl-CoA dehydratase 1 HACD1 9200 ENSG00000165996 Hacd1 (MGI:1353592) -chr10 17644149 17716823 10p14-p13 10p12.33 601899 STAM Signal transducing adaptor molecule STAM 8027 ENSG00000136738 Stam (MGI:1329014) -chr10 17809347 17911163 10p13 10p12.33 153618 MRC1, MMR Mannose receptor, C type 1 MRC1 4360 ENSG00000260314 Mrc1 (MGI:97142) -chr10 18140423 18545880 10p12 10p12.33-p12.31 600003 CACNB2 Calcium channel, voltage-dependent, beta 2 subunit CACNB2 783 ENSG00000165995 Brugada syndrome 4, 611876 (3) Cacnb2 (MGI:894644) -chr10 18512581 18659263 10p12.31 10p12.31 617199 NSUN6 NOP2/SUN RNA methyltransferase family, member 6 NSUN6 221078 ENSG00000241058 Nsun6 (MGI:1921705) -chr10 18659334 18681638 10p12.31 10p12.31 608909 ARL5B, ARL8 ADP ribosylation factor-like GTPase 5B ARL5B 221079 ENSG00000165997 Arl5b (MGI:1923119) -chr10 19046930 19734477 10p12.31 10p12.31 617715 MALRD1, C10orf112, DIET1 MAM and LDL receptor class A domain-containing protein 1 MALRD1 340895 ENSG00000204740 Malrd1 (MGI:1928271) -chr10 19816214 20289855 10p12.3 10p12.31 606827 PLXDC2, TEM7R Plexin domain containing 2 PLXDC2 84898 ENSG00000120594 Plxdc2 (MGI:1914698) -chr10 20779972 21293049 10p13-p12 10p12.31 605491 NEBL Nebulette NEBL 10529 ENSG00000078114 Nebl (MGI:1921353) -chr10 21496561 21496640 10p12.31 10p12.31 615202 MIR1915 Micro RNA 1915 MIR1915 100302129 ENSG00000222071 -chr10 21524615 21743629 10p12 10p12.31 602409 AF10 ALL1 fused gene from chromosome 10 MLLT10 8028 ENSG00000078403 fuses with MLL and HEAB Leukemia, acute myeloid, 601626 (3), Somatic mutation, Autosomal dominant Mllt10 (MGI:1329038) -chr10 21756547 22003762 10p12.31 10p12.31 611207 DNAJC1, HTJ1 DNAJ/HSP40 homolog, subfamily C, member 1 DNAJC1 64215 ENSG00000136770 Dnajc1 (MGI:103268) -chr10 22208474 22218014 10p12.3 10p12.31 613249 EBLN1 Endogenous Borna-like N element-containing protein 1 EBLN1 340900 ENSG00000223601 -chr10 22316387 22320305 10p12.2 10p12.2 616700 COMMD3 COMM domain-containing protein 3 COMMD3 23412 ENSG00000148444 Commd3 (MGI:88218) -chr10 22321098 22331483 10p13 10p12.2 164831 BMI1 Oncogene BMI-1 BMI1 648 ENSG00000168283 Bmi1 (MGI:88174) -chr10 22345460 22417609 10p12-p11.2 10p12.2 605730 SPAG6 Sperm-associated antigen 6 SPAG6 9576 ENSG00000077327 Spag6l,Spag6 (MGI:3040687,MGI:1354388) -chr10 22534853 22714577 10p12.2 10p12.2 603140 PIP4K2A, PI5P4KA, PIP5K2A Phosphatidylinositol 5-phosphate 4-kinase, type II, alpha PIP4K2A 5305 ENSG00000150867 Pip4k2a (MGI:1298206) -chr10 22928027 23038526 10p12.23 10p12.2 611226 ARMC3 Armadillo repeat-containing protein 3 ARMC3 219681 ENSG00000165309 Armc3 (MGI:1918132) -chr10 23095563 23122012 10p12 10p12.2 613782 MSRB2, CBS1 Methionine sulfoxide reductase B2 MSRB2 22921 ENSG00000148450 Msrb2 (MGI:1923717) -chr10 23192311 23194244 10p12.3 10p12.2 607194 PTF1A, PACA, PAGEN2 Pancreas transcription factor 1, alpha subunit PTF1A 256297 ENSG00000168267 Pancreatic and cerebellar agenesis, 609069 (3), Autosomal recessive; Pancreatic agenesis 2, 615935 (3), Autosomal recessive Ptf1a (MGI:1328312) -chr10 23439074 23442376 10p12.2 10p12.2 612022 OTUD1, DUBA7 OTU domain-containing protein 1 OTUD1 220213 ENSG00000165312 Otud1 (MGI:1918448) -chr10 23694726 24547842 10p12.2 10p12.2-p12.1 617367 KIAA1217, SKT KIAA1217 gene KIAA1217 56243 ENSG00000120549 Etl4 (MGI:95454) -chr10 24583609 24725420 10p12.3 10p12.1 609870 ARHGAP21, KIAA1424 GTPase-activating protein, Rho, 21 ARHGAP21 57584 ENSG00000107863 pseudogene on chr.6 Arhgap21 (MGI:1918685) -chr10 24848613 24952605 10p12.1 10p12.1 610751 PRTFDC1 Phosphoribosyl transferase domain-containing protein 1 PRTFDC1 56952 ENSG00000099256 -chr10 24952318 25026663 10p12.1 10p12.1 611260 THNSL1, TSH1 Threonine synthase-like 1 THNSL1 79896 ENSG00000185875 Thnsl1 (MGI:2139347) -chr10 24981984 25062326 10p12.1 10p12.1 611025 ENKUR, C10orf63 Enkurin, TRPC channel-interacting protein ENKUR 219670 ENSG00000151023 Enkur (MGI:1918483) -chr10 25174736 25602228 10p12.1 10p12.1 614573 GPR158, KIAA1136 G protein-coupled receptor 158 GPR158 57512 ENSG00000151025 Gpr158 (MGI:2441697) -chr10 25934228 26212535 10p11.1 10p12.1 606808 MYO3A, DFNB30 Myosin IIIA MYO3A 53904 ENSG00000095777 Deafness, autosomal recessive 30, 607101 (3), Autosomal recessive Myo3a (MGI:2183924) -chr10 26216371 26304557 10p11.23 10p12.1 138275 GAD2 Glutamate decarboxylase-2, pancreas GAD2 2572 ENSG00000136750 Gad2 (MGI:95634) -chr10 26697423 26747245 10p12.1 10p12.1 607429 PDSS1, TPT, COQ1, COQ10D2 Prenyl diphosphate synthase, subunit 1 PDSS1 23590 ENSG00000148459 Coenzyme Q10 deficiency, primary, 2, 614651 (3), Autosomal recessive Pdss1 (MGI:1889278) -chr10 26746595 26860985 10p11.2 10p12.1 603050 ABI1 ABL-interactor 1 ABI1 10006 ENSG00000136754 Abi1 (MGI:104913) -chr10 26938194 27100497 10p12.1 10p12.1 610855 ANKRD26, KIAA1074, THC2 Ankyrin repeat domain-containing protein 26 ANKRD26 22852 ENSG00000107890 Thrombocytopenia 2, 188000 (3), Autosomal dominant Ankrd26 (MGI:1917887) -chr10 27110110 27155050 10p14 10p12.1 607472 YME1L1, YME1L, PAMP, OPA11 Mitochondrial escape 1-like 1 YME1L1 10730 ENSG00000136758 mutation identified in1 OPA11 family ?Optic atrophy 11, 617302 (3), Autosomal recessive Yme1l1 (MGI:1351651) -chr10 27154478 27187952 10p12.1 10p12.1 608221 MASTL, FLJ14813, GWL Microtubule-associated serine/threonine kinase-like MASTL 84930 ENSG00000120539 Mastl (MGI:1914371) -chr10 27182837 27243541 10p12.1 10p12.1 616618 ACBD5, KIAA1996, RDLKD Acyl-CoA-binding domain-containing protein 5 ACBD5 91452 ENSG00000107897 Retinal dystrophy with leukodystrophy, 618863 (3), Autosomal recessive Acbd5 (MGI:1921409) -chr10 27398187 27414346 10p12.1 10p12.1 611791 PTCHD3 Patched domain-containing protein 3 PTCHD3 374308 ENSG00000182077 Ptchd3 (MGI:1921925) -chr10 27504303 27542238 10p12.1 10p12.1 602207 RAB18, WARBM3 Ras-associated protein RAB18 RAB18 22931 ENSG00000099246 Warburg micro syndrome 3, 614222 (3), Autosomal recessive Rab18 (MGI:102790) -chr10 27672873 27745818 10p12.1 10p12.1 601332 MKX, IFRX, IRXL1 Mohawk homeobox MKX 283078 ENSG00000150051 Mkx (MGI:2687286) -chr10 27812165 27999499 10p12.1 10p12.1 615408 ARMC4, CILD23 Armadillo repeat-containing protein 4 ODAD2 55130 ENSG00000169126 Ciliary dyskinesia, primary, 23, 615451 (3), Autosomal recessive Odad2 (MGI:1922184) -chr10 28050992 28303065 10p12.1 10p12.1 610973 MPP7 Membrane protein, palmitoylated 7 MPP7 143098 ENSG00000150054 Mpp7 (MGI:1922989) -chr10 28532771 28623111 10p12.1-p11.2 10p12.1 615049 WAC, KIAA1844, DESSH WW domain-containing adaptor with coiled-coil region WAC 51322 ENSG00000095787 Desanto-Shinawi syndrome, 616708 (3), Autosomal dominant Wac (MGI:2387357) -chr10 28677520 28682931 10p12.3-p11.2 10p12.1 604444 BAMBI, NMA BMP and activin membrane-bound inhibitor, xenopus, homolog of BAMBI 25805 ENSG00000095739 Bambi (MGI:1915260) -chr10 29300000 59400000 10p11.23-q21.1 607239 DFNB33 Deafness, autosomal recessive 33 170508 prev. assignment to chr. 9 an error Deafness, autosomal recessive 33, 607239 (2), Autosomal recessive -chr10 29457337 29736935 10p11.2 10p11.23 604126 SVIL, MFM10 Supervillin SVIL 6840 ENSG00000197321 Myofibrillar myopathy 10, 619040 (3), Autosomal recessive Svil (MGI:2147319) -chr10 30012802 30115493 10p11 10p11.23 614398 KIAA1462, JCAD KIAA1462 gene JCAD 57608 ENSG00000165757 Jcad (MGI:2685174) -chr10 30309800 30349277 10p11.23 10p11.23 613669 MTPAP, PAPD1, SPAX4 Mitochondrial poly(A) polymerase MTPAP 55149 ENSG00000107951 mutation identified in 1 SPAX4 family ?Spastic ataxia 4, autosomal recessive, 613672 (3), Autosomal recessive Mtpap (MGI:1914690) -chr10 30434020 30461832 10p11.2 10p11.23 191195 MAP3K8, COT, EST, TPL2 Mitogen-activated protein kinase kinase kinase 8 (cancer Osaka thyroid oncogene) MAP3K8 1326 ENSG00000107968 Lung cancer, somatic, 211980 (3) Map3k8 (MGI:1346878) -chr10 30606221 30629760 10p11.23 10p11.23 612748 LYZL2 Lysozyme-like 2 LYZL2 119180 ENSG00000151033 Lyzl1 (MGI:1914578) -chr10 31100000 34200000 10p11.22 611934 EIG5 Epilepsy, idiopathic generalized, susceptibility to, 5 100188861 max lod at D10S1426 {Epilepsy, idiopathic generalized, susceptibility to, 5}, 611934 (2) -chr10 31307716 31320446 10p11.22 10p11.22 616915 ZEB1AS1 ZEB1 antisense RNA 1, noncoding ZEB1-AS1 220930 ENSG00000237036 Gm10125 (MGI:3642044) -chr10 31318416 31529803 10p11.2 10p11.22 189909 ZEB1, TCF8, NIL2A, PPCD3, FECD6 Zinc finger E box-binding homeobox 1 ZEB1 6935 ENSG00000148516 Corneal dystrophy, posterior polymorphous, 3, 609141 (3); Corneal dystrophy, Fuchs endothelial, 6, 613270 (3) Zeb1 (MGI:1344313) -chr10 31805397 31928875 10p12 10p11.22 610577 ARHGAP12 Rho GTPase-activating protein 12 ARHGAP12 94134 ENSG00000165322 Arhgap12 (MGI:1922665) -chr10 32009014 32056424 10p11.22 10p11.22 602809 KIF5B, KNS1, UKHC Kinesin 1 KIF5B 3799 ENSG00000170759 Kif5b (MGI:1098268) -chr10 32267750 32378768 10p11 10p11.22 610999 EPC1 Enhancer of polycomb, Drosophila, homolog of, 1 EPC1 80314 ENSG00000120616 Epc1 (MGI:1278322) -chr10 32446128 32882863 10p11.22 10p11.22 619444 CCDC7 Coiled-coil domain-containing protein 7 CCDC7 79741 ENSG00000216937 Ccdc7b,Ccdc7a (MGI:1921953,MGI:1922703) -chr10 32900317 32958229 10p11.2 10p11.22 135630 ITGB1, FNRB Integrin, beta-1 (fibronectin receptor, beta polypeptide; antigen CD29 includes MDF2, MSK12) ITGB1 3688 ENSG00000150093 pseudogene FNRBL on 19p Itgb1 (MGI:96610) -chr10 33177492 33334666 10p12 10p11.22 602069 NRP1, NRP, VEGF165R Neuropilin 1 NRP1 8829 ENSG00000099250 Nrp1 (MGI:106206) -chr10 34109560 34815295 10p11.21 10p11.22-p11.21 606745 PARD3, PAR3 PAR3 family cell polarity regulator PARD3 56288 ENSG00000148498 Pard3 (MGI:2135608) -chr10 34200000 59400000 10p11.21-q21.1 614990 USH1K Usher syndrome, type IK 101180907 max lod at D10S539 Usher syndrome, type IK, 614990 (2), Autosomal recessive -chr10 35008550 35126898 10p11.2-p11.1 10p11.21 603135 CUL2 Cullin 2 CUL2 8453 ENSG00000108094 Cul2 (MGI:1918995) -chr10 35126840 35212957 10p12.1-p11.2 10p11.21 123812 CREM cAMP-responsive element modulator CREM 1390 ENSG00000095794 Crem (MGI:88495) -chr10 35247024 35572666 10p11.2 10p11.21 612786 CCNY, CFP1, CCNX, C10orf9 Cyclin Y CCNY 219771 ENSG00000108100 Ccny (MGI:1915224) -chr10 35605340 35608934 10p11.21 10p11.21 611922 GJD4, CX40.1 Gap junction protein, delta-4 GJD4 219770 ENSG00000177291 Gjd4 (MGI:2444990) -chr10 35638246 35642295 10p11.2 10p11.21 606146 FZD8 Frizzled class receptor 8 FZD8 8325 ENSG00000177283 Fzd8 (MGI:108460) -chr10 37125597 37309297 10p11.21 10p11.21 610856 ANKRD30A Ankyrin repeat domain-containing protein 30A ANKRD30A 91074 ENSG00000148513 -chr10 37949572 37976646 10p11.2-q11.2 10p11.21 194528 ZNF25, KOX19 Zinc finger protein-25 (KOX 19) ZNF25 219749 ENSG00000175395 Zfp9 (MGI:99210) -chr10 38010482 38067833 10q11.2 10p11.1 194521 ZNF33A, NF11A, KOX2 Zinc finger protein-33a ZNF33A 7581 ENSG00000189180 -chr10 38094326 38150292 10p11.1 10p11.1 616085 ZNF37A, KOX21, ZNF37 Zinc finger protein 37A ZNF37A 7587 ENSG00000075407 -chr10 39800000 133797422 10q 608176 AITD4 Autoimmune thyroid disease, susceptibility to, 4 387581 {Autoimmune thyroid disease, susceptibility to, 4}, 608176 (2) -chr10 42574168 42638569 10q11.2 10q11.21 194522 ZNF33B, ZNF11B, KOX2 Zinc finger protein-33b ZNF33B 7582 ENSG00000196693 -chr10 42782774 42834936 10q11.21 10q11.21 611448 BMS1, BMS1L, KIAA0187, ACC BMS1 ribosome biogenesis factor BMS1 9790 ENSG00000165733 mutation identified in one ACC family ?Aplasia cutis congenita, nonsyndromic, 107600 (3), Autosomal dominant Bms1 (MGI:2446132) -chr10 43077068 43130350 10q11.2 10q11.21 164761 RET, MEN2A, HSCR1 RET transforming sequence; oncogene RET RET 5979 ENSG00000165731 {Hirschsprung disease, susceptibility to, 1}, 142623 (3), Autosomal dominant; Multiple endocrine neoplasia IIA, 171400 (3), Autosomal dominant; {Hirschsprung disease, protection against}, 142623 (3), Autosomal dominant; Medullary thyroid carcinoma, 155240 (3), Autosomal dominant; Pheochromocytoma, 171300 (3), Autosomal dominant; Multiple endocrine neoplasia IIB, 162300 (3), Autosomal dominant Ret (MGI:97902) -chr10 43138444 43185307 10q11.22 10q11.21 616616 CSGALNACT2 Chondroitin sulfate N-acetylgalactosaminyltransferase 2 CSGALNACT2 55454 ENSG00000169826 Csgalnact2 (MGI:1926002) -chr10 43194534 43267064 10q11.21 10q11.21 614531 RASFEF1A RASGEF domain family, member 1A RASGEF1A 221002 ENSG00000198915 Rasgef1a (MGI:1917977) -chr10 43371635 43376334 10q11.21 10q11.21 616926 FXYD4, CHIF FXYD domain-containing ion transport regulator 4 FXYD4 53828 ENSG00000150201 Fxyd4 (MGI:1889005) -chr10 43385617 43409185 10q11.21-q11.22 10q11.21 601037 HNRPF Heterogeneous nuclear ribonucleoprotein F HNRNPF 3185 ENSG00000169813 Hnrnpf (MGI:2138741) -chr10 43554515 43574618 10q11.2 10q11.21 601069 ZNF239, MOK2 Zinc finger protein-239 ZNF239 8187 ENSG00000196793 previously 19q13.2-q13.3 Zfp239 (MGI:1306812) -chr10 43643861 43648880 10q23-q24 10q11.21 194539 ZNF32, KOX30 Zinc finger protein-32 (KOX30) ZNF32 7580 ENSG00000169740 Zfp637 (MGI:2448537) -chr10 44292087 44385096 10q11.1 10q11.21 600835 CXCL12, SDF1 Chemokine, C-X-C motif, ligand 12 (stromal cell-derived factor 1) CXCL12 6387 ENSG00000107562 {AIDS, resistance to}, 609423 (3) Cxcl12 (MGI:103556) -chr10 44959752 44995890 10q11.21 10q11.21 610559 RASSF4, AD037 Ras association domain family, member 4 RASSF4 83937 ENSG00000107551 Rassf4 (MGI:2386853) -chr10 44976127 44978808 10q11.21 10q11.21 611309 DEPP1, C10orf10, DEPP, FIG DEPP1 autophagy regulator DEPP1 11067 ENSG00000165507 Depp1 (MGI:1918730) -chr10 45000922 45005325 10q11.2 10q11.21 194529 ZNF22, KOX15 Zinc finger protein-22 (KOX15) ZNF22 7570 ENSG00000165512 Zfp422 (MGI:1914505) -chr10 45374208 45446120 10q11.2 10q11.21 152390 ALOX5 Arachidonate 5-lipoxygenase ALOX5 240 ENSG00000012779 {Atherosclerosis, susceptibility to} (3); {Asthma, diminished response to antileukotriene treatment in}, 600807 (3), Autosomal dominant Alox5 (MGI:87999) -chr10 45454584 45594906 10q11.21 10q11.21-q11.22 613335 MARCH8 Membrane-associated RING-CH finger protein 8 MARCHF8 220972 ENSG00000165406 Marchf8 (MGI:1919029) -chr10 45727042 45792963 10q11.22 10q11.22 613631 WASHC2C, FAM21C, VPEF, KIAA0592 WASH complex, subunit 2C WASHC2C 253725 ENSG00000172661 Washc2 (MGI:106463) -chr10 45972488 46003741 10q11.21-q11.23 10q11.22 605034 TIMM23 Translocase of inner mitochondrial membrane 23 TIMM23 100287932 ENSG00000265354 Timm23 (MGI:1858317) -chr10 46005087 46030622 10q11.2 10q11.22 601984 NCOA4, ELE1, PTC3 Nuclear receptor coactivator 4 NCOA4 8031 ENSG00000266412 fused with RET to form PTC3 Ncoa4 (MGI:1350932) -chr10 46033312 46046268 10q11.2 10q11.22 157145 MSMB, HPC13 Microseminoprotein, beta MSMB 4477 ENSG00000263639 {Prostate cancer, hereditary, 13}, 611928 (3) Msmb (MGI:97166) -chr10 46458547 46470693 10q11.2-q21.2 10q11.22 601790 PPYR1, NPY4R, PP1 Pancreatic polypeptide receptor-1 NPY4R 5540 ENSG00000204174 Npy4r (MGI:105374) -chr10 46541735 46557595 10q11.22 10q11.22 611240 GPRIN2, GRIN2 G protein-regulated inducer of neurite outgrowth 2 GPRIN2 9721 ENSG00000204175 Gprin2 (MGI:2444560) -chr10 46578017 46595169 10q11.1 10q11.22 608081 SYT15 Synaptotagmin 15 SYT15 83849 ENSG00000204176 Syt15 (MGI:2442166) -chr10 46911371 47003828 10q11.2 10q11.22 610630 PTPN20 Protein tyrosine phosphatase, nonreceptor-type, 20 PTPN20 26095 ENSG00000204179 Ptpn20 (MGI:1196295) -chr10 47300196 47313576 10q11.22 10q11.22 601361 GDF10, BMP3B Growth/differentiation factor 10 GDF10 2662 ENSG00000266524 Gdf10 (MGI:95684) -chr10 47322453 47327587 10q11.22 10q11.22 605120 GDF2, BMP9, HHT5 Growth differentiation factor 2 (bone morphogenetic protein 9) GDF2 2658 ENSG00000263761 Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3), Autosomal dominant Gdf2 (MGI:1321394) -chr10 47348362 47357880 10q11.2 10q11.22 180290 RBP3, RP66 Retinol-binding protein-3, interstitial RBP3 5949 ENSG00000265203 1 family identified with mutation ?Retinitis pigmentosa 66, 615233 (3), Autosomal recessive Rbp3 (MGI:97878) -chr10 47467992 47991878 10q11.2 10q11.22 602396 ANXA8 Annexin A8 ANXA8 653145 ENSG00000265190 Anxa8 (MGI:1201374) -chr10 48156558 48274695 10q11.22 10q11.22 613323 FRMPD2 FERM and PDZ domains-containing protein 2 FRMPD2 143162 ENSG00000170324 Frmpd2 (MGI:2685472) -chr10 48306672 48439359 10q11.2 10q11.22 601158 MAPK8, PRKM8, JNK1, SAPK1 Mitogen-activated protein kinase 8 MAPK8 5599 ENSG00000107643 Mapk8 (MGI:1346861) -chr10 48429830 48656264 10q11 10q11.22-q11.23 610585 ARHGAP22 Rho GTPase-activating protein 22 ARHGAP22 58504 ENSG00000128805 Arhgap22 (MGI:2443418) -chr10 48600000 51100000 10q11.23 610987 ASAH2B, ASAH2C, ASAH2L N-acylsphingosine amidohydrolase 2B -chr10 48600000 80300000 10q11.23-q22.3 614237 HYPT9 Hypotrichosis 9 100736250 between D10S538 and D10S2327 Hypotrichosis 9, 614237 (2), Autosomal recessive -chr10 48600000 68800000 10q11.2-q21 610926 STHAG5 Tooth agenesis, selective, 5 100188748 D10S604 and D10S568 Tooth agenesis, selective, 5, 610926 (2) -chr10 48684826 48982955 10q11.22-q11.23 10q11.23 613316 WDFY4, KIAA1607 WD repeat- and FYVE domain-containing protein 4 WDFY4 57705 ENSG00000128815 Wdfy4 (MGI:3584510) -chr10 48909479 48940125 10q11.23 10q11.23 619002 LRRC18 Leucine-rich repeat-containing protein 18 LRRC18 474354 ENSG00000165383 Lrrc18 (MGI:1914830) -chr10 49364065 49396088 10q11.23 10q11.23 606701 DRGX, DRG11 Dorsal root ganglia homeobox DRGX 644168 ENSG00000165606 Prrxl1 (MGI:2148204) -chr10 49434880 49539537 10q11 10q11.23 609413 ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11 Excision repair cross complementing rodent repair deficiency, complementation group 6 ERCC6 2074 ENSG00000225830 UV-sensitive syndrome 1, 600630 (3), Autosomal recessive; Cerebrooculofacioskeletal syndrome 1, 214150 (3), Autosomal recessive; Cockayne syndrome, type B, 133540 (3), Autosomal recessive; De Sanctis-Cacchione syndrome, 278800 (3), Autosomal recessive; {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3); Premature ovarian failure 11, 616946 (3), Autosomal dominant; {Lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant Ercc6 (MGI:1100494) -chr10 49609094 49667941 10q11.2 10q11.23 118490 CHAT, CMS6 Choline acetyltransferase CHAT 1103 ENSG00000070748 Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3), Autosomal recessive Chat (MGI:88392) -chr10 49610309 49612719 10q11.2 10q11.23 600336 SLC18A3, VACHT, CMS21 Solute carrier family 18 (vesicular acetylcholine), member 3 SLC18A3 6572 ENSG00000187714 Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3), Autosomal recessive Slc18a3 (MGI:1101061) -chr10 49734640 49762378 10q11.23 10q11.23 617513 OGDHL, KIAA1290 Oxoglutarate dehydrogenase-like protein OGDHL 55753 ENSG00000197444 Ogdhl (MGI:3616088) -chr10 49818278 49942026 10q11.23 10q11.23 603501 PARG Poly(ADP-ribose) glycohydrolase PARG 8505 ENSG00000227345 Parg (MGI:1347094) -chr10 50184860 50251563 10q11.23 10q11.23 611202 ASAH2 N-acylsphingosine amidohydrolase 2 ASAH2 56624 ENSG00000188611 Asah2 (MGI:1859310) -chr10 50305599 50623955 10q11.2 10q11.23 611573 SGMS1, SMS1, TMEM23, MOB Sphingomyelin synthase 1 SGMS1 259230 ENSG00000198964 Sgms1 (MGI:2444110) -chr10 50799408 50885665 10q11.21 10q11.23 618199 A1CF, ASP APOBEC1 complementation factor A1CF 29974 ENSG00000148584 A1cf (MGI:1917115) -chr10 50990887 52298349 10q11.2 10q11.2-q21.1 176894 PRKG1, PRKG1B, PRKGR1B, AAT8 Protein kinase, cGMP-dependent, regulatory, type I PRKG1 5592 ENSG00000185532 Aortic aneurysm, familial thoracic 8, 615436 (3), Autosomal dominant Prkg1 (MGI:108174) -chr10 51100000 59400000 10q21.1 612717 MYP15 Myopia 15 100294716 max lod at D10S1643 Myopia 15, 612717 (2), Autosomal dominant -chr10 51695485 51699594 10q22-q23 10q21.1 611968 CSTF2T, KIAA0689 Cleavage stimulation factor, 3-prime pre-RNA, subunit 2, 64kD, tau variant CSTF2T 23283 ENSG00000177613 Cstf2t (MGI:1932622) -chr10 52314280 52317656 10q11.2 10q21.1 605189 DKK1 Dickkopf WNT signaling pathway inhibitor 1 DKK1 22943 ENSG00000107984 Dkk1 (MGI:1329040) -chr10 52765379 52772783 10q11.2-q21 10q21.1 154545 MBL2, MBL, MBP1, MBL2D, MBPD Mannose-binding lectin 2, soluble (opsonic defect) MBL2 4153 ENSG00000165471 near MEN2A {Chronic infections, due to MBL deficiency}, 614372 (3), Autosomal dominant Mbl2 (MGI:96924) -chr10 53802770 55629181 10q21-q22 10q21.1 605514 PCDH15, DFNB23, USH1F Protocadherin 15 PCDH15 65217 ENSG00000150275 Usher syndrome, type 1D/F digenic, 601067 (3), Digenic recessive, Autosomal recessive; Deafness, autosomal recessive 23, 609533 (3), Autosomal recessive; Usher syndrome, type 1F, 602083 (3), Autosomal recessive Pcdh15 (MGI:1891428) -chr10 56357226 56361272 10q21-q22 10q21.1 609177 ZWINT, SIP30 ZW10 interacting kinetochore protein ZWINT 11130 ENSG00000122952 Zwint (MGI:1289227) -chr10 58191516 58269960 10q21 10q21.1 609851 IPMK Inositol polyphosphate multikinase IPMK 253430 ENSG00000151151 Ipmk (MGI:1916968) -chr10 58269161 58289585 10q21.1 10q21.1 611932 CISD1, MITONEET CDGSH iron sulfur domain protein 1 CISD1 55847 ENSG00000122873 Cisd1 (MGI:1261855) -chr10 58335005 58370747 10q11.2-q21 10q21.1 602961 UBE2D1, UBCH5A, UBCH5 Ubiquitin-conjugating enzyme E2D 1 UBE2D1 7321 ENSG00000072401 Ube2d1 (MGI:2384911) -chr10 58385408 58399219 10q21 10q21.1 600438 TFAM, TCF6L2, TCF6L1, TCF6L3, MTTF1, TCF6, MTDPS15 Transcription factor A, mitochondrial TFAM 7019 ENSG00000108064 mutation identified in 1 MTDPS15 family ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3), Autosomal recessive Tfam (MGI:107810) -chr10 58512871 58831434 10q21.2 10q21.1 614295 BICC1, BICC, CYSRD Bicaudal C, Drosophila, homolog of, 1 BICC1 80114 ENSG00000122870 {Renal dysplasia, cystic, susceptibility to}, 601331 (3), Autosomal dominant Bicc1 (MGI:1933388) -chr10 59650763 59710078 10q21.2 10q21.2 614242 SLC16A9, MCT9 Solute carrier family 16 (monocarboxylic acid transporter), member 9 SLC16A9 220963 ENSG00000165449 Slc16a9 (MGI:1914109) -chr10 59736691 59753454 10q21.2 10q21.2 616246 MRLN, LINC00948 Myoregulin MRLN 100507027 ENSG00000227877 Mrln (MGI:1916813) -chr10 59788746 59906555 10q21 10q21.2 601985 CCDC6, D10S170, H4, TST1 Coiled-coil domain-containing 6 CCDC6 8030 ENSG00000108091 fused with RET to form PTC1 Ccdc6 (MGI:1923801) -chr10 60026297 60733527 10q21 10q21.2 600465 ANK3, MRT37 Ankyrin-3, node of Ranvier ANK3 288 ENSG00000151150 Mental retardation, autosomal recessive, 37, 615493 (3), Autosomal recessive Ank3 (MGI:88026) -chr10 60778330 60794851 10q21.1 10q21.2 116940 CDK1, CDC2 Cyclin-dependent kinase 1 CDK1 983 ENSG00000170312 Cdk1 (MGI:88351) -chr10 60869437 61001485 10q21.1 10q21.2 607351 RHOBTB1, KIAA0740 Rho-related BTB domain-containing protein 1 RHOBTB1 9886 ENSG00000072422 Rhobtb1 (MGI:1916538) -chr10 61406641 61453380 10q21.2 10q21.2 617803 TMEM26 Transmembrane protein 26 TMEM26 219623 ENSG00000196932 Tmem26 (MGI:2143537) -chr10 61901253 62096943 10q21.2 10q21.2 608538 ARID5B, MRF2, DESRT AT-rich interaction domain-containing protein 5B ARID5B 84159 ENSG00000150347 Arid5b (MGI:2175912) -chr10 62159130 62268878 10q21.3 10q21.2 618450 RTKN2 Rhotekin 2 RTKN2 219790 ENSG00000182010 Rtkn2 (MGI:2158417) -chr10 62374368 62544261 10q21.2 10q21.2 607818 ZNF365, UAN Zinc finger protein 365 ZNF365 22891 ENSG00000138311 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3) Zfp365 (MGI:2143676) -chr10 62800000 68800000 10q21 613065 ALL1 Leukemia, acute lymphocytic, susceptibility to, 1 100310785 associated with rs10821936 {Leukemia, acute lymphocytic, susceptibility to, 1}, 613065 (2) -chr10 62800000 68800000 10q21 612369 ALPQTL4 Alkaline phosphatase, plasma level of, QTL 4 100196916 linkage with rs12355784 {Alkaline phosphatase, plasma level of, QTL4}, 612369 (2) -chr10 62800000 73100000 10q21.3-q22.1 604185 HCFP2 Facial paresis, hereditary congenital, 2 22811 Facial paresis, hereditary congenital, 2, 604185 (2), Autosomal dominant -chr10 62800000 80300000 10q21.3-q22.3 613339 HWE1 Epilepsy, hot water, 1 100415903 max lod at D10S412 Epilepsy, hot water, 1, 613339 (2), Autosomal dominant -chr10 62800000 68800000 10q21 612255 IBD15 Inflammatory bowel disease 15 100190929 association with rs10761659 {Inflammatory bowel disease 15}, 612255 (2) -chr10 62800000 68800000 10q21 612357 MAFD8 Major affective disorder 8 100196912 associated with rs20994336 {Major affective disorder-8, susceptibility to}, 612357 (2) -chr10 62800000 68800000 10q21.3 614996 MSE Myelinating Schwann cell element 101180900 -chr10 62804719 62808478 10q21.3 10q21.3 611392 ADO, C10orf22 2-aminoethanethiol dioxygenase ADO 84890 ENSG00000181915 Ado (MGI:2685083) -chr10 62811995 62819166 10q21.1-q22.1 10q21.3 129010 EGR2, KROX20, CHN1 KROX-20, Drosophila, homolog of (early growth response-2) EGR2 1959 ENSG00000122877 Dejerine-Sottas disease, 145900 (3), Autosomal dominant, Autosomal recessive; Charcot-Marie-Tooth disease, type 1D, 607678 (3), Autosomal dominant; Hypomyelinating neuropathy, congenital, 1, 605253 (3), Autosomal dominant, Autosomal recessive Egr2 (MGI:95296) -chr10 63133324 63155028 10q21.3 10q21.3 616477 NRBF2, COPR Nuclear receptor-binding factor 2 NRBF2 29982 ENSG00000148572 Nrbf2 (MGI:1354950) -chr10 63167220 63521889 10q21.3 10q21.3 604503 JMJD1C, TRIP8, KIAA1380 Jumonji domain-containing protein 1C JMJD1C 221037 ENSG00000171988 Jmjd1c (MGI:1918614) -chr10 63521352 63625127 10q21.3 10q21.3 609348 REEP3, C10orf74 Receptor expression-enhancing protein 3 REEP3 221035 ENSG00000165476 Reep3 (MGI:88930) -chr10 65912522 67696216 10q21 10q21.3 607667 CTNNA3, ARVD13 Catenin, alpha-3 CTNNA3 29119 ENSG00000183230 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3), Autosomal dominant Ctnna3 (MGI:2661445) -chr10 66926035 67101550 10q21.3 10q21.3 610869 LRRTM3 Leucine-rich repeat transmembrane protein 3 LRRTM3 347731 ENSG00000198739 Lrrtm3 (MGI:2389177) -chr10 67796664 67838187 10q21.1 10q21.3 606060 DNAJC12, JDP1, HPANBH4 DNAJ/HSP40 homolog, subfamily C, member 12 DNAJC12 56521 ENSG00000108176 Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive Dnajc12 (MGI:1353428) -chr10 67884655 67918389 10q21.3 10q21.3 604479 SIRT1, SIR2L1 Sirtuin, S. cerevisiae, homolog 1 SIRT1 23411 ENSG00000096717 Sirt1 (MGI:2135607) -chr10 67921904 68075323 10q21.3 10q21.3 609248 HERC4 HECT domain and RCC1-like domain 4 HERC4 26091 ENSG00000148634 Herc4 (MGI:1914595) -chr10 68087906 68212016 10q21.1 10q21.3 608517 MYPN, CMD1DD, CMH22, RCM4, NEM11 Myopalladin MYPN 84665 ENSG00000138347 Cardiomyopathy, hypertrophic, 22, 615248 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 4, 615248 (3), Autosomal dominant; Cardiomyopathy, dilated, 1KK, 615248 (3), Autosomal dominant; Nemaline myopathy 11, autosomal recessive, 617336 (3), Autosomal recessive Mypn (MGI:1916052) -chr10 68230594 68232112 10q21.3-q22.1 10q21.3 609875 ATOH7, PHPVAR, NCRNA Atonal, Drosophila, homolog of, 7 ATOH7 220202 ENSG00000179774 Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3), Autosomal recessive Atoh7 (MGI:1355553) -chr10 68282659 68332957 10q21.1 10q21.3 612189 PBLD, MAWBP, MAWDBP Phenazine biosynthesis-like protein domain-containing protein PBLD 64081 ENSG00000108187 Pbld1,Pbld2 (MGI:1914557,MGI:1915621) -chr10 68331692 68343195 10q22 10q21.3 602324 HNRPH3, 2H9 Heterogeneous nuclear ribonucleoprotein H3 HNRNPH3 3189 ENSG00000096746 Hnrnph3 (MGI:1926462) -chr10 68341111 68407301 10q21.1 10q21.3 610328 RUFY2, KIAA1537 RUN and FYVE domains-containing protein 2 RUFY2 55680 ENSG00000204130 Rufy2 (MGI:1917682) -chr10 68414063 68472520 10q21.3-q22.1 10q21.3 601810 DNA2, DNA2L, KIAA0083, PEOA6, SCKL8 DNA replication helicase/nuclease 2 DNA2 1763 ENSG00000138346 mutation identified in 1 SCKL8 family ?Seckel syndrome 8, 615807 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3), Autosomal dominant Dna2 (MGI:2443732) -chr10 68477997 68527522 10q21.3-q22.1 10q21.3 139080 SLC25A16, D10S105E, GDA Solute carrier family 25 (mitochondrial carrier), member 16 (Graves disease autoantigen) SLC25A16 8034 ENSG00000122912 Slc25a16 (MGI:1920382) -chr10 68560336 68700793 10q22 10q21.3 607790 TET1, CXXC6, LCX, KIAA1676 tet methylcytosine dioxygenase 1 TET1 80312 ENSG00000138336 Tet1 (MGI:1098693) -chr10 68721238 68792376 10q21.3 10q21.3 612569 CCAR1, CARP1 Cell division cycle and apoptosis regulator 1 CCAR1 55749 ENSG00000060339 Ccar1 (MGI:1914750) -chr10 68800000 97500000 10q22.1-q24.1 609041 SPG27 Spastic paraplegia-27, autosomal recessive 414886 between D10S606 and D10S1758 Spastic paraplegia 27, autosomal recessive, 609041 (2), Autosomal recessive -chr10 68827530 68895941 10q22.1 10q22.1 609397 STOX1, PEE4 Storkhead box 1 STOX1 219736 ENSG00000165730 Preeclampsia/eclampsia 4, 609404 (3) Stox1 (MGI:2684909) -chr10 68898816 68956311 10q22.1 10q22.1 610373 DDX50, GUB DExD-box helicase 50 DDX50 79009 ENSG00000107625 Ddx50 (MGI:2182303) -chr10 68956130 68985067 10q21 10q22.1 606357 DDX21 DExD-box helicase 21 DDX21 9188 ENSG00000165732 Ddx21 (MGI:1860494) -chr10 68988802 69016981 10q22.1 10q22.1 609367 KIFBP, KIAA1279 Kinesin family binding protein KIFBP 26128 ENSG00000198954 Goldberg-Shprintzen megacolon syndrome, 609460 (3), Autosomal recessive Kifbp (MGI:1919570) -chr10 69057532 69104810 10q22.1 10q22.1 177040 SRGN, PRG1, PRG Serglycin SRGN 5552 ENSG00000122862 Srgn (MGI:97756) -chr10 69124177 69174411 10q21.1 10q22.1 605506 VPS26A, VPS26, HB58 VPS26 retromer complex component A VPS26A 9559 ENSG00000122958 Vps26a (MGI:1353654) -chr10 69180233 69209092 10q22.1 10q22.1 605122 SUPV3L1 Suv3-like 1 SUPV3L1 6832 ENSG00000156502 Supv3l1 (MGI:2441711) -chr10 69220302 69267551 10q22.1 10q22.1 617221 HKDC1 Hexokinase domain-containing protein 1 HKDC1 80201 ENSG00000156510 Hkdc1 (MGI:2384910) -chr10 69269990 69401881 10q22 10q22.1 142600 HK1, HKD, HMSNR, RP79, NEDVIBA Hexokinase-1 HK1 3098 ENSG00000156515 Retinitis pigmentosa 79, 617460 (3), Autosomal dominant; Neuropathy, hereditary motor and sensory, Russe type, 605285 (3), Autosomal recessive; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 (3), Autosomal dominant; Hemolytic anemia due to hexokinase deficiency, 235700 (3), Autosomal recessive Hk1 (MGI:96103) -chr10 69403902 69416917 10q11-q21 10q22.1 162321 TACR2, TAC2R, NKNAR Tachykinin receptor 2 (substance K receptor; neurokinin 2 receptor) TACR2 6865 ENSG00000075073 Tacr2 (MGI:98477) -chr10 69451463 69549507 10q22.1 10q22.1 613140 TSPAN15, NET7 Tetraspanin 15 TSPAN15 23555 ENSG00000099282 Tspan15 (MGI:1917673) -chr10 69571439 69573424 10q21.3 10q22.1 604882 NEUROG3, NGN3, ATOH5 Neurogenin 3 NEUROG3 50674 ENSG00000122859 Diarrhea 4, malabsorptive, congenital, 610370 (3), Autosomal recessive Neurog3 (MGI:893591) -chr10 69801834 69959143 10q22 10q22.1 120350 COL13A1, CMS19 Collagen XIII, alpha-1 polypeptide COL13A1 1305 ENSG00000197467 ~550kb proximal to P4HA Myasthenic syndrome, congenital, 19, 616720 (3), Autosomal recessive Col13a1 (MGI:1277201) -chr10 70052845 70112281 10q22.3 10q22.1 616141 H2AFY2 H2A histone family, member Y2 MACROH2A2 55506 ENSG00000099284 Macroh2a2 (MGI:3037658) -chr10 70112270 70132824 10q22.1 10q22.1 605159 AIFM2, FSP1, PRG3 Apoptosis-inducing factor, mitochondria-associated, 2 AIFM2 84883 ENSG00000042286 Aifm2 (MGI:1918611) -chr10 70137980 70146699 10q22.1 10q22.1 611017 TYSND1 Trypsin domain-containing protein 1 TYSND1 219743 ENSG00000156521 Tysnd1 (MGI:1919017) -chr10 70147288 70170513 10q22.1 10q22.1 607691 SARA1, SAR1A Secretion-associated RAS-related GTPase 1A SAR1A 56681 ENSG00000079332 Sar1a (MGI:98230) -chr10 70202830 70233428 10q21.3 10q22.1 179030 PP Inorganic pyrophosphatase PPA1 5464 ENSG00000180817 Ppa1 (MGI:97831) -chr10 70247328 70284003 10q21 10q22.1 607448 NPFFR1, NPFF1, GPR147 Neuropeptide FF receptor 1 NPFFR1 64106 ENSG00000148734 Npffr1 (MGI:2685082) -chr10 70404144 70428617 10q21-q22 10q22.1 602224 EIF4EBP2, 4EBP2 Eukaryotic translation initiation factor-4E binding protein-1 EIF4EBP2 1979 ENSG00000148730 Eif4ebp2 (MGI:109198) -chr10 70431935 70447950 10q22.1 10q22.1 601265 NODAL, HTX5 Nodal, mouse, homolog of NODAL 4838 ENSG00000156574 Heterotaxy, visceral, 5, 270100 (3), Autosomal dominant Nodal (MGI:97359) -chr10 70458541 70568449 10q22.1 10q22.1 614656 KIAA1274, PALD Paladin, mouse, homolog of PALD1 27143 ENSG00000107719 Pald1 (MGI:1351623) -chr10 70597347 70602740 10q22 10q22.1 170280 PRF1, HPLH2, FLH2 Perforin PRF1 5551 ENSG00000180644 mistakenly assigned to chr.17 Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3), Autosomal recessive; Aplastic anemia, 609135 (3); Lymphoma, non-Hodgkin, 605027 (3) Prf1 (MGI:97551) -chr10 70672505 70762440 10q22.1 10q22.1 607506 ADAMTS14 ADAM metallopeptidase domain with thrombospondin type 1 motif, 14 ADAMTS14 140766 ENSG00000138316 Adamts14 (MGI:2179942) -chr10 70771236 70785400 10q22.1 10q22.1 612640 C10orf27 chromosome 10 open reading frame 27 TBATA 219793 ENSG00000166220 Tbata (MGI:1923820) -chr10 70815919 70881183 10q22.1 10q22.1 603729 SGPL1, SPL, NPHS14 Sphingosine-1-phosphate lyase 1 SGPL1 8879 ENSG00000166224 Nephrotic syndrome, type 14, 617575 (3), Autosomal recessive Sgpl1 (MGI:1261415) -chr10 70882279 70888564 10q22 10q22.1 126090 PCBD1, DCOH Pterin-4a-carbinolamine dehydratase 1 PCBD1 5092 ENSG00000166228 Hyperphenylalaninemia, BH4-deficient, D, 264070 (3), Autosomal recessive Pcbd1 (MGI:94873) -chr10 71212534 71302878 10q21-q22 10q22.1 607870 UNC5B, UNC5H2 unc-5 netrin receptor B UNC5B 219699 ENSG00000107731 Unc5b (MGI:894703) -chr10 71319258 71363386 10q22.1 10q22.1 612373 SLC29A3, ENT3, PHID, HCLAP Solute carrier family 29 (nucleoside transporter), member 3 SLC29A3 55315 ENSG00000198246 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3), Autosomal recessive Slc29a3 (MGI:1918529) -chr10 71396919 71815946 10q21-q22 10q22.1 605516 CDH23, USH1D, DFNB12, PITA5 Cadherin-23 (otocadherin) CDH23 64072 ENSG00000107736 between D10S529 and D10S573 Usher syndrome, type 1D, 601067 (3), Digenic recessive, Autosomal recessive; {Pituitary adenoma 5, multiple types}, 617540 (3), Autosomal dominant; Usher syndrome, type 1D/F digenic, 601067 (3), Digenic recessive, Autosomal recessive; Deafness, autosomal recessive 12, 601386 (3), Autosomal recessive Cdh23 (MGI:1890219) -chr10 71747555 71773519 10q22.1 10q22.1 615608 VSIR, C10orf54, B7H5 V-set immunoregulatory receptor VSIR 64115 ENSG00000107738 Vsir (MGI:1921298) -chr10 71816297 71851250 10q22.1 10q22.1 176801 PSAP, SAP1, PSAPD, PARK24 Prosaposin (sphingolipid activator protein-1) PSAP 5660 ENSG00000197746 Combined SAP deficiency, 611721 (3), Autosomal recessive; Krabbe disease, atypical, 611722 (3), Autosomal recessive; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3), Autosomal recessive; Gaucher disease, atypical, 610539 (3); {Parkinson disease 24, autosomal dominant, susceptibility to}, 619491 (3) Psap (MGI:97783) -chr10 71964394 72013561 10q22.1 10q22.1 603799 CHST3, C6ST, C6ST1, HSD Carbohydrate sulfotransferase 3 CHST3 9469 ENSG00000122863 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3), Autosomal recessive Chst3 (MGI:1858224) -chr10 72059033 72095312 10q21-q23 10q22.1 607988 SPOCK2, KIAA0275 SPARC/osteonectin, CWCV, and KAZAL-like domains proteoglycan 2 SPOCK2 9806 ENSG00000107742 Spock2 (MGI:1891351) -chr10 72096031 72218776 10q22.1 10q22.1 614215 ASCC1, p50, SMABF2 Activating signal cointegrator 1 complex, subunit 1 ASCC1 51008 ENSG00000138303 Spinal muscular atrophy with congenital bone fractures 2, 616867 (3), Autosomal recessive; Barrett esophagus/esophageal adenocarcinoma, 614266 (3) Ascc1 (MGI:1916340) -chr10 72216011 72235859 10q22.1 10q22.1 613427 ANAPC16, MSAG, C10orf104 Anaphase-promoting complex, subunit 16 ANAPC16 119504 ENSG00000166295 Anapc16 (MGI:1289325) -chr10 72273923 72276035 10q24.33 10q22.1 607729 DDIT4, REDD1, RTP801 DNA damage-inducible transcript 4 DDIT4 54541 ENSG00000168209 Ddit4 (MGI:1921997) -chr10 72332862 72354918 10q22.2 10q22.1 608376 DNAJB12, DJ10, FLJ0027 DNAJ, E. coli, homolog of, subfamily B, member 12 DNAJB12 54788 ENSG00000148719 Dnajb12 (MGI:1931881) -chr10 72367338 72626095 10q22.1 10q22.1 605084 MICU1, CBARA1, MPXPS Mitochondrial calcium uptake protein 1 MICU1 10367 ENSG00000107745 Myopathy with extrapyramidal signs, 615673 (3), Autosomal recessive Micu1 (MGI:2384909) -chr10 72692142 72887693 10q22.1 10q22.1 614197 MCU, CCDC109A Mitochondrial calcium uniporter MCU 90550 ENSG00000156026 Mcu (MGI:3026965) -chr10 72893738 72933035 10q21.3 10q22.1 609330 OIT3, LZP Oncoprotein-induced transcript 3, mouse, homolog of OIT3 170392 ENSG00000138315 Oit3 (MGI:1201782) -chr10 72934761 72955043 10q22.1 10q22.1 611653 PLA2G12B, GXIIB Phospholipase A2, group XIIB PLA2G12B 84647 ENSG00000138308 Pla2g12b (MGI:1917086) -chr10 73007216 73096865 10q21.3-q23.1 10q22.1 176710 P4HA1, P4HA Procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide 1 P4HA1 5033 ENSG00000122884 P4ha1 (MGI:97463) -chr10 73110454 73131826 10q22.2 10q22.2 609233 NUDT13 Nudix hydrolase 13 NUDT13 25961 ENSG00000166321 Nudt13 (MGI:1914975) -chr10 73133667 73168094 10q22.2 10q22.2 616464 ECD, SGT1 Ecdysoneless cell cycle regulator ECD 11319 ENSG00000122882 Ecd (MGI:1917851) -chr10 73168089 73244503 10q22.2 10q22.2 618413 FAM149B1, KIAA0974, JBTS36 Family with sequence similarity 149, member B1 FAM149B1 317662 ENSG00000138286 Joubert syndrome 36, 618763 (3), Autosomal recessive Fam149b (MGI:2145567) -chr10 73241953 73247254 10q22.2 10q22.2 611206 DNAJC9, JDD1, KIAA0974 DNAJ/HSP40 homolog, subfamily C, member 9 DNAJC9 23234 ENSG00000213551 Dnajc9 (MGI:1915326) -chr10 73248848 73252643 10q22.1 10q22.2 609204 MRPS16, COXPD2 Mitochondrial ribosomal protein S16 MRPS16 51021 ENSG00000182180 Combined oxidative phosphorylation deficiency 2, 610498 (3), Autosomal recessive Mrps16 (MGI:1913492) -chr10 73253757 73361063 10q22.2 10q22.2 618661 CFAP70, TTC18, SPGF41 Cilia- and flagella-associated protein 70 CFAP70 118491 ENSG00000156042 mutation identified in 1 SPGF41 patient ?Spermatogenic failure 41, 618670 (3), Autosomal recessive Cfap70 (MGI:1923920) -chr10 73375100 73414057 10q21.1-q21.2 10q22.2 186360 ANXA7, SNX Annexin A7 (synexin) ANXA7 310 ENSG00000138279 Anxa7 (MGI:88031) -chr10 73423578 73433560 10q22.2 10q22.2 614773 MSS51, ZMYND17 MSS51 mitochondrial translational activator MSS51 118490 ENSG00000166343 Mss51 (MGI:1922093) -chr10 73436432 73496023 10q21-q22 10q22.2 114106 PPP3CB, CALNB Protein phosphatase-3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta) PPP3CB 5532 ENSG00000107758 Ppp3cb (MGI:107163) -chr10 73631611 73641473 10q22.1 10q22.2 605603 MYOZ1 Myozenin 1 (calsarcin 2) MYOZ1 58529 ENSG00000177791 Myoz1 (MGI:1929471) -chr10 73744163 73772166 10q22.2 10q22.2 607185 SEC24C, KIAA0079 SEC24-related gene family, member C SEC24C 9632 ENSG00000176986 Sec24c (MGI:1919746) -chr10 73772275 73779103 10q22.2 10q22.2 616932 FUT11, FUCTXI Fucosyltransferase 11 FUT11 170384 ENSG00000196968 Fut11 (MGI:1920318) -chr10 73782047 73783651 10q22.2 10q22.2 608842 CHCHD1 Coiled-coil-helix-coiled-coil-helix domain-containing protein 1 CHCHD1 118487 ENSG00000172586 Chchd1 (MGI:1913371) -chr10 73785576 73801792 10q22.2 10q22.2 619213 ZSWIM8, KIAA0913 Zinc finger SWIM domain-containing protein 8 ZSWIM8 23053 ENSG00000214655 Zswim8 (MGI:1919156) -chr10 73801915 73811819 10q22 10q22.2 603268 NDST2 N-deacetylase/N-sulfotransferase 2 NDST2 8509 ENSG00000166507 in intron of PCDH15 Ndst2 (MGI:97040) -chr10 73812500 73874581 10q22 10q22.2 602123 CAMK2G, CAMKG, MRD59 Calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma CAMK2G 818 ENSG00000148660 in intron of PCDH15 Mental retardation, autosomal dominant 59, 618522 (3), Autosomal dominant Camk2g (MGI:88259) -chr10 73909181 73917496 10q24 10q22.2 191840 PLAU, URK, QPD, BDPLT5 Plasminogen activator, urokinase PLAU 5328 ENSG00000122861 proximal to HOX11 Quebec platelet disorder, 601709 (3), Autosomal dominant; {Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant Plau (MGI:97611) -chr10 73998115 74121362 10q22.1-q23 10q22.2 193065 VCL, CMD1W, CMH15 Vinculin VCL 7414 ENSG00000035403 Cardiomyopathy, dilated, 1W, 611407 (3); Cardiomyopathy, hypertrophic, 15, 613255 (3), Autosomal dominant Vcl (MGI:98927) -chr10 74120011 74151066 10q22.2 10q22.2 610366 AP3M1 Adaptor-related protein complex 3, mu-1 subunit AP3M1 26985 ENSG00000185009 Ap3m1 (MGI:1929212) -chr10 74151184 74709299 10q11-q24 10q22.2 102750 ADK Adenosine kinase ADK 132 ENSG00000156110 Hypermethioninemia due to adenosine kinase deficiency, 614300 (3), Autosomal recessive Adk (MGI:87930) -chr10 74824926 75032623 10q22 10q22.2 605880 KAT6B, MYST4, MORF, GTPTS Lysine acetyltransferase 6B KAT6B 23522 ENSG00000156650 SBBYSS syndrome, 603736 (3), Autosomal dominant; Genitopatellar syndrome, 606170 (3), Autosomal dominant Kat6b (MGI:1858746) -chr10 75026426 75073826 10q22.2 10q22.2 618574 DUPD1, DUSP27, FMDSP Dual-specificity phosphatase domain- and proline isomerase DUSP29 338599 ENSG00000188716 Dupd1 (MGI:3647127) -chr10 75094431 75109220 10q22.2 10q22.2 613191 DUSP13, TMDP, MDSP Dual-specificity phosphatase 13 DUSP13 51207 ENSG00000079393 Dusp13 (MGI:1351599) -chr10 75099574 75182122 10q22.2 10q22.2 611575 SAMD8, SMSR Sterile alpha motif domain-containing 8 SAMD8 142891 ENSG00000156671 Samd8 (MGI:1914880) -chr10 75210169 75231447 10q22 10q22.2 193245 VDAC2 Voltage-dependent anion channel 2 VDAC2 7417 ENSG00000165637 Vdac2 (MGI:106915) -chr10 75279724 75401915 10q22.2 10q22.2 613902 ZNF503, NOLZ1 Zinc finger protein 503 ZNF503 84858 ENSG00000165655 Zfp503 (MGI:1353644) -chr10 75431623 76560167 10q22.3 10q22.2-q22.3 614537 LRMDA, C10orf11, OCA7 Leucine-rich melanocyte differentiation-associated protein LRMDA 83938 ENSG00000148655 Albinism, oculocutaneous, type VII, 615179 (3), Autosomal recessive Lrmda (MGI:1923883) -chr10 75900000 104000000 10q22-q24 608583 ATFB1 Atrial fibrillation, familial, 1 406216 Atrial fibrillation, familial, 1, 608583 (2), Autosomal dominant -chr10 75900000 95300000 10q22-q23 611706 MGR12 Migraine, with or without aura, susceptibility to, 12 100188851 max lod at 100cM {Migraine, with or without aura, susceptibility to, 12}, 611706 (2), Autosomal dominant -chr10 75900000 80300000 10q22.3 608078 SCZD11 Schizophrenia susceptibility locus, chromosome 10q-related 404686 between D10S1677 and D10S1753 {Schizophrenia}, 181500 (2), Autosomal dominant -chr10 75900000 80300000 10q22.3 607965 SLEN1 Systemic lupus erythematosus with nephritis, susceptibility to, 1 192677 {Systemic lupus erythematosus with nephritis, susceptibility to, 1}, 607965 (2) -chr10 75900000 80300000 10q22 611003 SQTL1 Smoking as a quantitative trait locus 1 100188827 near D10S1432 {Smoking as a quantitative trait locus 1}, 611003 (2) -chr10 75900000 80300000 10q22.3 612388 SS3 Sarcoidosis, susceptibility to, 3 100196919 associated with rs2789679 and rs1049550 {Sarcoidosis, susceptibility to, 3}, 612388 (2) -chr10 76869601 77637968 10q22.3 10q22.3 600150 KCNMA1, SLO, PNKD3, CADEDS, IEG16, LIWAS Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (slowpoke, Drosophila, homolog of) KCNMA1 3778 ENSG00000156113 {Epilepsy, idiopathic generalized, susceptibility to, 16}, 618596 (3), Autosomal dominant; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3), Autosomal dominant; Cerebellar atrophy, developmental delay, and seizures, 617643 (3), Autosomal recessive; Liang-Wang syndrome, 618729 (3), Autosomal dominant Kcnma1 (MGI:99923) -chr10 77790786 77926754 10q23 10q22.3 604090 DLG5, PDLG, KIAA0583 Discs large MAGUK scaffold protein 5 DLG5 9231 ENSG00000151208 Dlg5 (MGI:1918478) -chr10 77975148 78029514 10q22.3 10q22.3 614258 POLR3A, RPC1, RPC155, ADDH, HLD7, WDRTS Polymerase III, RNA, subunit A POLR3A 11128 ENSG00000148606 Wiedemann-Rautenstrauch syndrome, 264090 (3), Autosomal recessive; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3), Autosomal recessive Polr3a (MGI:2681836) -chr10 78033862 78056805 10q22-q23 10q22.3 602412 RPS24, DBA3 Ribosomal protein S24 RPS24 6229 ENSG00000138326 Diamond-blackfan anemia 3, 610629 (3), Autosomal dominant Rps24 (MGI:98147) -chr10 79068965 79316518 10q22.3 10q22.3 607159 ZMIZ1, RAI17, KIAA1224, ZIMP10, NEDDFSA Zinc finger MIZ-domain containing 1 ZMIZ1 57178 ENSG00000108175 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, 618659 (3), Autosomal dominant Zmiz1 (MGI:3040693) -chr10 79347468 79355333 10q22-q23 10q22.3 604486 PPIF, CYP3 Peptidylprolyl-cis-trans-isomerase, mitochondrial PPIF 10105 ENSG00000108179 Ppif (MGI:2145814) -chr10 79555851 79560458 10q22-q23 10q22.3 178642 SFTPA2, SPA2, COLEC5 Surfactant, pulmonary-associated protein A2 SFTPA2 729238 ENSG00000185303 contiguous with SFTPA1 Pulmonary fibrosis, idiopathic, 178500 (3), Autosomal dominant Sftpa1 (MGI:109518) -chr10 79610938 79615454 10q22.2-q23.1 10q22.3 178630 SFTPA1, SFTP1 Surfactant, pulmonary-associated protein A1 SFTPA1 653509 ENSG00000122852 contiguous with SFTPA2 Sftpa1 (MGI:109518) -chr10 79691499 79826593 10q23.2 10q22.3 618639 NUTM2B-AS1, OPML1 NUTM2B antisense RNA 1 NUTM2B-AS1 101060691 ENSG00000225484 mutation identified in 1 OPML1 family ?Oculopharyngeal myopathy with leukoencephalopathy 1, 618637 (3), Autosomal dominant -chr10 79937739 79982235 10q23.3 10q22.3 178635 SFTPD, SFTP4 Surfactant, pulmonary-associated protein D SFTPD 6441 ENSG00000133661 Sftpd (MGI:109515) -chr10 80131660 80145358 10q22.3 10q22.3 612857 PLAC9 Placenta-specific gene 9 PLAC9 219348 ENSG00000189129 Plac9 (MGI:2663998) -chr10 80150888 80205807 10q22.3-q23.1 10q22.3 602572 ANXA11, ANX11, ALS23 Annexin A11 (annexin XI) ANXA11 311 ENSG00000122359 Amyotrophic lateral sclerosis 23, 617839 (3), Autosomal dominant Anxa11 (MGI:108481) -chr10 80271819 80289657 10q22 10q22.3 610550 MAT1A, MATA1, SAMS1 Methionine adenosyltransferase I, alpha MAT1A 4143 ENSG00000151224 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3), Autosomal dominant, Autosomal recessive; Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3), Autosomal dominant, Autosomal recessive Mat1a (MGI:88017) -chr10 80336012 80356786 10q23.1 10q23.1 615154 DYDC1 DPY30 domain-containing protein 1 DYDC1 143241 ENSG00000170788 Dydc1 (MGI:1916746) -chr10 80407828 80437114 10q23.1 10q23.1 617165 FAM213A, PAMM Family with sequence similarity 213, member A PRXL2A 84293 ENSG00000122378 Prxl2a (MGI:1917814) -chr10 81875189 82989978 10q22 10q23.1 605533 NRG3 Neuregulin 3 NRG3 10718 ENSG00000185737 Nrg3 (MGI:1097165) -chr10 84139508 84153567 10q23.1 10q23.1 619205 GHITM, MICS1, TMBIM5 Growth hormone-inducible transmembrane protein GHITM 27069 ENSG00000165678 Ghitm (MGI:1913342) -chr10 84167227 84172075 10q23.1 10q23.1 617434 HOST2 Long noncoding RNA HOST2 CERNA2 642934 ENSG00000285972 -chr10 84173763 84185293 10q23.1 10q23.1 617775 C10orf99, CSBF, AP57 Chromosome 10 open reading frame 99 C10orf99 387695 ENSG00000188373 2610528A11Rik (MGI:1917295) -chr10 84194536 84219620 10q23.1 10q23.1 609502 CDHR1, PCDH21, PRCAD, CORD15, RP65 Cadherin-related family, member 1 CDHR1 92211 ENSG00000148600 Cone-rod dystrophy 15, 613660 (3), Autosomal recessive; Retinitis pigmentosa 65, 613660 (3), Autosomal recessive Cdhr1 (MGI:2157782) -chr10 84231519 84241545 10q23.1 10q23.1 616103 LRIT1, PAL Leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 1 LRIT1 26103 ENSG00000148602 REc, A Lrit1 (MGI:2385320) -chr10 84243740 84259959 10q23 10q23.1 600342 RGR, RP44 Retinal G protein coupled receptor RGR 5995 ENSG00000148604 Retinitis pigmentosa 44, 613769 (3) Rgr (MGI:1929473) -chr10 85599551 86366794 10q22 10q23.1-q23.2 610659 GRID1, KIAA1220 Glutamate receptor, inotropic, delta 1 GRID1 2894 ENSG00000182771 Grid1 (MGI:95812) -chr10 86264693 86264787 10q23.2 10q23.2 611190 MIR346 Micro RNA 346 MIR346 442911 ENSG00000199104 Mir346 (MGI:3619362) -chr10 86435255 86521815 10q23.2 10q23.2 610754 WAPAL, KIAA0261, FOE, WAPL Wings apart-like protein, Drosophila, homolog of WAPL 23063 ENSG00000062650 Wapl (MGI:2675859) -chr10 86653494 86666459 10q23.2 10q23.2 606665 OPN4 Opsin 4 OPN4 94233 ENSG00000122375 Opn4 (MGI:1353425) -chr10 86666787 86736071 10q22.2-q23.3 10q23.2 605906 LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3 LIM domain binding 3 LDB3 11155 ENSG00000122367 Left ventricular noncompaction 3, 601493 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 24, 601493 (3), Autosomal dominant; Myopathy, myofibrillar, 4, 609452 (3), Autosomal dominant; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3), Autosomal dominant Ldb3 (MGI:1344412) -chr10 86755785 86927968 10q22.3 10q23.2 601299 BMPR1A, ACVRLK3, ALK3 Bone morphogenetic protein receptor, type IA BMPR1A 657 ENSG00000107779 Polyposis syndrome, hereditary mixed, 2, 610069 (3); Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant Bmpr1a (MGI:1338938) -chr10 86955758 86963259 10q23.2-q23.3 10q23.2 602998 SNCG, BCSG1 Synuclein, gamma (breast cancer-specific gene 1) SNCG 6623 ENSG00000173267 Sncg (MGI:1298397) -chr10 87050201 87094842 10q23.3 10q23.2 138130 GLUD1 Glutamate dehydrogenase-1 GLUD1 2746 ENSG00000148672 pseudogene on Xq26-q28 Hyperinsulinism-hyperammonemia syndrome, 606762 (3), Autosomal dominant Glud1 (MGI:95753) -chr10 87094477 87191467 10q23.2 10q23.2 618029 SHLD2, RINN2, FAM35A Shield complex, subunit 2 SHLD2 54537 ENSG00000122376 Shld2 (MGI:1922948) -chr10 87504892 87553460 10q23 10q23.2 605391 MINPP1, HIPER1 Multiple inositol polyphosphate phosphatase 1 MINPP1 9562 ENSG00000107789 {Thyroid carcinoma, follicular}, 188470 (3), Somatic mutation, Autosomal dominant Minpp1 (MGI:1336159) -chr10 87659877 87747704 10q22-q24 10q-q 603005 PAPSS2, ATPSK2, BCYM4 3'-phosphoadenosine 5'-phosphosulfate synthase 2 PAPSS2 9060 ENSG00000198682 Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3), Autosomal recessive Papss2 (MGI:1330223) -chr10 87700000 91100000 10q23.31 613006 IDDM24 Diabetes mellitus, insulin-dependent, 24 100303715 associated with rs10509540 {Diabetes mellitus, insulin-dependent, 24}, 613006 (2) -chr10 87751511 87841358 10q23.31 10q23.31 614452 ATAD1, THORASE, HKPX4 ATPase family, AAA domain-containing, member 1 ATAD1 84896 ENSG00000138138 Hyperekplexia 4, 618011 (3), Autosomal recessive Atad1 (MGI:1915229) -chr10 87859157 87863532 10q23 10q23.31 612105 KLLN, CWS4 Killin KLLN 100144748 ENSG00000227268 Cowden syndrome 4, 615107 (3) -chr10 87863624 87971929 10q23.31 10q23.31 601728 PTEN, MMAC1, GLM2, CWS1 Phosphatase and tensin homolog (mutated in multiple advanced cancers 1) PTEN 5728 ENSG00000171862 {Glioma susceptibility 2}, 613028 (3); {Meningioma}, 607174 (3), Autosomal dominant; Lhermitte-Duclos syndrome, 158350 (3), Autosomal dominant; Cowden syndrome 1, 158350 (3), Autosomal dominant; Prostate cancer, somatic, 176807 (3); Macrocephaly/autism syndrome, 605309 (3), Autosomal dominant Pten (MGI:109583) -chr10 88176051 88584479 10q23.33 10q23.31 609360 RNLS, C10orf59 Renalase RNLS 55328 ENSG00000184719 Rnls (MGI:1915045) -chr10 88582906 88623160 10q23.31 10q23.31 613921 LIPJ, LIPL1 Lipase J LIPJ 142910 ENSG00000204022 -chr10 88664441 88678814 10q23.31 10q23.31 601980 LIPF Lipase F, gastric type LIPF 8513 ENSG00000182333 Lipf (MGI:1914967) -chr10 88706224 88753091 10q23.31 10q23.31 613922 LIPK, LIPL2 Lipase family, member K LIPK 643414 ENSG00000204021 Lipk (MGI:2679259) -chr10 88757225 88783661 10q23.31 10q23.31 613924 LIPN, LIPL4, ARCI8, LI4 Lipase family, member N LIPN 643418 ENSG00000204020 Ichthyosis, congenital, autosomal recessive 8, 613943 (3), Autosomal recessive Lipn (MGI:1917416) -chr10 88802729 88822021 10q23.31 10q23.31 613923 LIPM, LIPL3 Lipase family, member M LIPM 340654 ENSG00000173239 Lipm (MGI:1926003) -chr10 88879367 88923501 10q23 10q23.31 612352 STAMBPL1, KIAA1373 STAM-binding protein-like 1 STAMBPL1 57559 ENSG00000138134 Stambpl1 (MGI:1923880) -chr10 88935073 88991396 10q22-q24 10q23.31 102620 ACTA2, ACTSA, AAT6, MYMY5 Actin, alpha-2, smooth muscle, aorta ACTA2 59 ENSG00000107796 Multisystemic smooth muscle dysfunction syndrome, 613834 (3), Autosomal dominant; Aortic aneurysm, familial thoracic 6, 611788 (3), Autosomal dominant; Moyamoya disease 5, 614042 (3) Acta2 (MGI:87909) -chr10 88968428 89017058 10q24.1 10q23.31 134637 FAS, TNFRSF6, APT1, CD95, ALPS1A Fas cell surface death receptor FAS 355 ENSG00000026103 Squamous cell carcinoma, burn scar-related, somatic (3); Autoimmune lymphoproliferative syndrome, type IA, 601859 (3), Autosomal dominant; {Autoimmune lymphoproliferative syndrome}, 601859 (3), Autosomal dominant Fas (MGI:95484) -chr10 89205628 89207316 10q23 10q23.31 604551 CH25H Cholesterol 25-hydroxylase CH25H 9023 ENSG00000138135 Ch25h (MGI:1333869) -chr10 89213570 89251925 10q23.31 10q23.31 613497 LIPA, CESD Lipase A, lysosomal acid, cholesterol esterase LIPA 3988 ENSG00000107798 ?close to GOT Wolman disease, 278000 (3), Autosomal recessive; Cholesteryl ester storage disease, 278000 (3), Autosomal recessive Lipa (MGI:96789) -chr10 89302045 89309270 10q23.3 10q23.31 147040 IFIT2, IFI54, G10P2 Interferon-induced protein with tetratricopeptide repeats 2 IFIT2 3433 ENSG00000119922 Ifit2 (MGI:99449) -chr10 89327996 89340967 10q23.3 10q23.31 604650 IFIT4 Interferon-induced protein with tetratricopeptide repeats 4 IFIT3 3437 ENSG00000119917 Ifit3b,Ifit3 (MGI:1101055,MGI:3698419) -chr10 89392622 89406486 10q23.3 10q23.31 147690 IFIT1, IFI56, G10P1, IFNAI1 Interferon-induced protein with tetratricopeptide repeats 1 IFIT1 3434 ENSG00000185745 10q25-q26 = conflicting site Ifit1bl1,Ifit1 (MGI:99450,MGI:3650685) -chr10 89414567 89420996 10q23.31 10q23.31 616135 IFIT5, RI58, ISG58 Interferon-induced protein with tetratricopeptide repeats 5 IFIT5 24138 ENSG00000152778 -chr10 89430298 89536028 10q23.3 10q23.31 611910 SLC16A12, MCT12, CTRCT47 Solute carrier family 16 (monocarboxylic acid transporter), member 12 SLC16A12 387700 ENSG00000152779 mutation identified in 1 CTRCT47 family Cataract 47, juvenile, with microcornea, 612018 (3), Autosomal dominant Slc16a12 (MGI:2147716) -chr10 89579494 89645241 10q23 10q23.31 606160 PANK1 Pantothenate kinase 1 PANK1 53354 ENSG00000152782 Pank1 (MGI:1922985) -chr10 89592746 89592826 10q23.31 10q23.31 613189 MIR107, MIRN107 Micro RNA 107 MIR107 406901 ENSG00000198997 Mir107 (MGI:3619063) -chr10 89701589 89774933 10q22-q24 10q23.31 605498 MPHOSPH1, MPP1 M-phase phosphoprotein 1 KIF20B 9585 ENSG00000138182 Kif20b (MGI:2444576) -chr10 90738692 90858038 10q21-q24 10q23.31 182137 HTR7 5-hydroxytryptamine (serotonin) receptor-7, adenylate cyclase-coupled HTR7 3363 ENSG00000148680 Htr7 (MGI:99841) -chr10 90871973 90908555 10q23.31 10q23.31 606115 RPP30 Ribonuclease P/MRP subunit p30 RPP30 10556 ENSG00000148688 Rpp30 (MGI:1859683) -chr10 90912095 90921086 10q23.31 10q23.31 609599 ANKRD1, CARP Ankyrin repeat domain-containing protein 1 ANKRD1 27063 ENSG00000148677 Ankrd1 (MGI:1097717) -chr10 91162401 91284336 10q23.32 10q23.32 617407 PCGF5 Polycomb group ring finger protein 5 PCGF5 84333 ENSG00000180628 Pcgf5 (MGI:1923505) -chr10 91628441 91633070 10q23-q24 10q23.32 602999 PPP1R3C, PPP1R5 Phosphatase 1, regulatory subunit 3C PPP1R3C 5507 ENSG00000119938 Ppp1r3c (MGI:1858229) -chr10 91798425 91865474 10q23.32 10q23.32 607128 TNKS2, TANK2, TNKL Tankyrase 2 TNKS2 80351 ENSG00000107854 Tnks2 (MGI:1921743) -chr10 91923769 92031436 10q22-q23 10q23.32 605191 BTAF1, TAFII170, TAF172, MOT1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kD (Mot1, S. cerevisiae, homolog of) BTAF1 9044 ENSG00000095564 Btaf1 (MGI:2147538) -chr10 92046691 92291498 10q23.3 10q23.32 610606 CPEB3, KIAA0940 Cytoplasmic polyadenylation element-binding protein 3 CPEB3 22849 ENSG00000107864 Cpeb3 (MGI:2443075) -chr10 92291163 92353963 10q23.3 10q23.32-q23.33 610637 MARCH5 Membrane-associated RING-CH finger protein 5 MARCHF5 54708 ENSG00000198060 Marchf5 (MGI:1915207) -chr10 92300000 104000000 10q23-q24 611920 CPROTQ C-reactive protein QTL 100188860 max lod at D10S1239 [C-reactive protein QTL], 611920 (2) -chr10 92300000 95300000 10q23 612242 DEL10q23, C10DELq23 Chromosome 10q22.3-q23.2 deletion syndrome Chromosome 10q22.3-q23.2 deletion syndrome, 612242 (4) -chr10 92300000 104000000 10q23-q24 612288 IBD20 Inflammatory bowel disease 20 100190788 associated with rs11190140 {Inflammatory bowel disease 20}, 612288 (2) -chr10 92300000 95300000 10q23.3 609578 RCM2 Cardiomyopathy, familial restrictive, 2 619468 max lod at D10S1242 Cardiomyopathy, familial restrictive, 2, 609578 (2) -chr10 92451683 92574092 10q23-q25 10q23.33 146680 IDE Insulin-degrading enzyme IDE 3416 ENSG00000119912 Ide (MGI:96412) -chr10 92593129 92655394 10q23.33 10q23.33 148760 KIF11, KNSL1, MCLMR Kinesin family member 11 KIF11 3832 ENSG00000138160 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3), Autosomal dominant Kif11 (MGI:1098231) -chr10 92689954 92695646 10q24 10q23.33 604420 HHEX, PRHX, PRH Hematopoietically expressed homeo box HHEX 3087 ENSG00000152804 Hhex (MGI:96086) -chr10 92826830 93059489 10q23.33 10q23.33 609672 EXOC6, SEC15L1, SEC15L, SEC15 Exocyst complex component 6 EXOC6 54536 ENSG00000138190 Exoc6 (MGI:1351611) -chr10 93060797 93069539 10q23.3 10q23.33 608428 CYP26C1, FFDD4 Cytochrome P450, subfamily XXVIC, polypeptide 1 CYP26C1 340665 ENSG00000187553 Focal facial dermal dysplasia 4, 614974 (3), Autosomal recessive Cyp26c1 (MGI:2679699) -chr10 93073474 93077884 10q23-q24 10q23.33 602239 CYP26A1 Cytochrome p450, subfamily XXVIA, polypeptide 1 CYP26A1 1592 ENSG00000095596 Cyp26a1 (MGI:1096359) -chr10 93306428 93482504 10q24 10q23.33 604603 MYOF, FER1L3, HAE7 Myoferlin MYOF 26509 ENSG00000138119 mutation identified in 1 HAE7 family ?Angioedema, hereditary, 7, 619366 (3), Autosomal dominant Myof (MGI:1919192) -chr10 93496611 93529093 10q23.33 10q23.33 610000 CEP55, MARCH Centrosomal protein, 55kD CEP55 55165 ENSG00000138180 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3), Autosomal recessive Cep55 (MGI:1921357) -chr10 93566177 93590071 10q23.33 10q23.33 609044 FFAR4, O3FAR1, GPR120, PGR4, BMIQ10 Free fatty acid receptor 4 FFAR4 338557 ENSG00000186188 {Obesity, susceptibility to}, 607514 (3) Ffar4 (MGI:2147577) -chr10 93591693 93601743 10q24 10q23.33 180250 RBP4, RDCCAS, MCOPCB10 Retinol-binding protein-4, interstitial RBP4 5950 ENSG00000138207 just centromeric of CYP2C cluster Microphthalmia, isolated, with coloboma 10, 616428 (3), Autosomal dominant; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3), Autosomal recessive Rbp4 (MGI:97879) -chr10 93612536 93666009 10q24 10q23.33 600827 PDE6C, PDEA2, COD4 Phosphodiesterase-6C, cGMP-specific, cone, alpha prime PDE6C 5146 ENSG00000095464 Cone dystrophy 4, 613093 (3), Autosomal recessive Pde6c (MGI:105956) -chr10 93667882 93702958 10q23.33 10q23.33 608866 C10orf4, FRA10AC1, FRA10A Chromosome 10 open reading frame 4 FRA10AC1 118924 ENSG00000148690 Fra10ac1 (MGI:1917817) -chr10 93757886 93798158 10q24 10q23.33 604619 LGI1, EPT, ETL1, ADLTE, ADPEAF Leucine-rich gene, glioma-inactivated, 1 LGI1 9211 ENSG00000108231 Epilepsy, familial temporal lobe, 1, 600512 (3), Autosomal dominant Lgi1 (MGI:1861691) -chr10 93893950 93914270 10q23.33 10q23.33 617167 SLC35G1, POST, TMEM20, C10orf60 Solute carrier family 35, member G1 SLC35G1 159371 ENSG00000176273 Slc35g1 (MGI:2444789) -chr10 93993930 94332822 10q23 10q23.33 608414 PLCE1, KIAA1516, NPHS3 Phospholipase C, epsilon-1 PLCE1 51196 ENSG00000138193 Nephrotic syndrome, type 3, 610725 (3), Autosomal recessive Plce1 (MGI:1921305) -chr10 94314906 94362958 10q24 10q23.33 610769 NOC3L, FAD24 NOC3-like DNA replication regulator NOC3L 64318 ENSG00000173145 Noc3l (MGI:1932610) -chr10 94545777 94613904 10q23.3-q24.2 10q23.33 603946 HELLS, LSH, ICF4 Helicase, lymphoid-specific HELLS 3070 ENSG00000119969 Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3), Autosomal recessive Hells (MGI:106209) -chr10 94683728 94736189 10q23.33 10q23.33 601131 CYP2C18 Cytochrome P450, subfamily IIC, polypeptide 18 CYP2C18 1562 ENSG00000108242 Cyp2c55 (MGI:1919332) -chr10 94762680 94855546 10q24.1-q24.3 10q23.33 124020 CYP2C, CYP2C19 Cytochrome P450, subfamily IIC (mephenytoin 4'-hydroxylase) CYP2C19 1557 ENSG00000165841 4 genes in order: cen-C18-C19-C9-C8-tel Proguanil poor metabolizer, 609535 (3), Autosomal recessive; Mephenytoin poor metabolizer, 609535 (3), Autosomal recessive; Clopidogrel, impaired responsiveness to, 609535 (3), Autosomal recessive; Omeprazole poor metabolizer, 609535 (3), Autosomal recessive Cyp2c69,Cyp2c37,Cyp2c67,Cyp2c68,Cyp2c54,Cyp2c65,Cyp2c66,Cyp2c50,Cyp2c40,Cyp2c29,Cyp2c38,Cyp2c39 (MGI:3642960,MGI:103238,MGI:3721049,MGI:1919553,MGI:1306818,MGI:1306819,MGI:1917138,MGI:1306806,MGI:2147497,MGI:3612288,MGI:3612287,MGI:1306815) -chr10 94938657 94990090 10q24 10q23.33 601130 CYP2C9 Cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9 CYP2C9 1559 ENSG00000138109 Warfarin sensitivity, 122700 (3), Autosomal dominant; Tolbutamide poor metabolizer (3) Cyp2c69,Cyp2c37,Cyp2c67,Cyp2c68,Cyp2c54,Cyp2c50,Cyp2c40,Cyp2c29,Cyp2c38,Cyp2c39 (MGI:3642960,MGI:103238,MGI:3721049,MGI:1306818,MGI:1306819,MGI:1306806,MGI:2147497,MGI:3612288,MGI:3612287,MGI:1306815) -chr10 95036771 95069496 10q23.3 10q23.33 601129 CYP2C8, CYP2C8DM Cytochrome P450, subfamily IIc, polypeptide 8 CYP2C8 1558 ENSG00000138115 {Drug metabolism, altered, CYP2C8-related}, 618018 (3) Cyp2c65,Cyp2c66 (MGI:1919553,MGI:1917138) -chr10 95237568 95291005 10q26 10q23.33 605900 PDLIM1, CLP36, CLIM1 PDZ and LIM domain protein 1 PDLIM1 9124 ENSG00000107438 Pdlim1 (MGI:1860611) -chr10 95300000 110100000 10q24.1-q25.1 606483 CMTDIA Charcot-Marie-Tooth disease, dominant intermediate A 387574 Charcot-Marie-Tooth disease, dominant intermediate A, 606483 (2), Autosomal dominant -chr10 95311772 95561438 10q23.3-q24.1 10q24.1 605264 SORBS1, SH3D5, SH3P12, KIAA1296 Sorbin and SH3 domain containing 1 SORBS1 10580 ENSG00000095637 Sorbs1 (MGI:700014) -chr10 95605937 95656900 10q24.3 10q24.1 138250 ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3 Aldehyde dehydrogenase 18 family, member A1 (1-pyrroline-5-carboxylate synthetase) ALDH18A1 5832 ENSG00000059573 GOT1 and GSAS in same pathway Spastic paraplegia 9A, autosomal dominant, 601162 (3), Autosomal dominant; Cutis laxa, autosomal recessive, type IIIA, 219150 (3), Autosomal recessive; Spastic paraplegia 9B, autosomal recessive, 616586 (3), Autosomal recessive; Cutis laxa, autosomal dominant 3, 616603 (3), Autosomal dominant Aldh18a1 (MGI:1888908) -chr10 95663400 95693953 10q24.1 10q24.1 613847 TCTN3, TECT3, C10orf61, OFD4, JBTS18 Tectonic family, member 3 TCTN3 26123 ENSG00000119977 Joubert syndrome 18, 614815 (3), Autosomal recessive; Orofaciodigital syndrome IV, 258860 (3), Autosomal recessive Tctn3 (MGI:1914840) -chr10 95710900 95877265 10q24 10q24.1 601752 ENTPD1, CD39, SPG64 Ectonucleoside triphosphate diphosphohydrolase 1 (CD39 antigen) ENTPD1 953 ENSG00000138185 Spastic paraplegia 64, autosomal recessive, 615683 (3), Autosomal recessive Entpd1 (MGI:102805) -chr10 96128905 96205290 10q24.1 10q24.1 617733 ZNF518A, KIAA0335 Zinc finger protein 518A ZNF518A 9849 ENSG00000177853 Zfp518a (MGI:1919922) -chr10 96189170 96271568 10q23.2 10q24.1 604515 BLNK, SLP65, AGM4 B-cell linker protein (SH2 domain-containing leukocyte protein, 65kD) BLNK 29760 ENSG00000095585 mutation identified in 1 AGM4 family ?Agammaglobulinemia 4, 613502 (3), Autosomal recessive Blnk (MGI:96878) -chr10 96304433 96338563 10q23-q24 10q24.1 187410 DNTT, TDT Terminal deoxynucleotidyltransferase DNTT 1791 ENSG00000107447 Dntt (MGI:98659) -chr10 96343220 96359001 10q24 10q24.1 617200 OPALIN, TMEM10, TMP10 Oligodendrocytic myelin paranodal and inner loop protein OPALIN 93377 ENSG00000197430 Opalin (MGI:2657025) -chr10 96364607 96513925 10q23-q24 10q24.1 606743 TLL2, KIAA0932 Tolloid-like 2 TLL2 7093 ENSG00000095587 Tll2 (MGI:1346044) -chr10 96518109 96587011 10q24.1 10q24.1 616872 TM9SF3, SMBP Transmembrane 9 superfamily, member 3 TM9SF3 56889 ENSG00000077147 Tm9sf3 (MGI:1914262) -chr10 96593311 96720513 10q24.1 10q24.1 607942 PIK3AP1, BCAP, FLJ35564 Phosphoinositide 3-kinase adaptor protein 1 PIK3AP1 118788 ENSG00000155629 Pik3ap1 (MGI:1933177) -chr10 96832297 96995955 10q24.1 10q24.1 607698 LCOR, MLR2, KIAA1795 Ligand-dependent nuclear receptor corepressor LCOR 84458 ENSG00000196233 Lcor (MGI:2443930) -chr10 96998037 97185958 10q24.1 10q24.1 603742 SLIT1, SLIL1, MEGF4 SLIT guidance ligand 1 SLIT1 6585 ENSG00000187122 Slit1 (MGI:1315203) -chr10 97222178 97292636 10q24.1 10q24.1 611587 ARHGAP19 RHO GTPase-activating protein 19 ARHGAP19 84986 ENSG00000213390 Arhgap19 (MGI:1918335) -chr10 97319270 97321914 10q24.1 10q24.1 602503 FRAT1 Frequently rearranged in advanced T-cell lymphomas 1 FRAT1 10023 ENSG00000165879 Peg12,Frat1 (MGI:1351637,MGI:109450) -chr10 97332496 97334728 10q24.1 10q24.1 605006 FRAT2 Frequently rearranged in advanced T-cell lymphomas 2 FRAT2 23401 ENSG00000181274 Frat2 (MGI:2673967) -chr10 97356356 97401369 10q24.1 10q24.1 617723 RRP12, KIAA0690 Ribosomal RNA-processing protein 12, S. cerevisiae, homolog of RRP12 23223 ENSG00000052749 Rrp12 (MGI:2147437) -chr10 97426190 97433443 10q25.3 10q24.1 172250 PGAM1 Phosphoglycerate mutase A, nonmuscle form PGAM1 5223 ENSG00000171314 Pgam1 (MGI:97552) -chr10 97435908 97446005 10q24.1 10q24.1 606493 EXOSC1, CSL4, PCH1F Exosome component 1 EXOSC1 51013 ENSG00000171311 mutation identified in 1 PCH1F patient ?Pontocerebellar hypoplasia, type 1F, 619304 (3), Autosomal recessive Exosc1 (MGI:1913833) -chr10 97446142 97457369 10q24 10q24.1 616750 ZDHHC16, APH2 Zinc finger DHHC domain-containing protein 16 ZDHHC16 84287 ENSG00000171307 Zdhhc16 (MGI:1921418) -chr10 97458323 97498793 10q24.1 10q24.1 614777 MMS19, MMS19L MMS19 nucleotide excision repair, S. Cerevisiae, homolog of MMS19 64210 ENSG00000155229 Mms19 (MGI:1919449) -chr10 97498923 97571205 10q24.1-q24.2 10q24.1-q24.2 616388 UBTD1 Ubiquitin domain-containing protein 1 UBTD1 80019 ENSG00000165886 Ubtd1 (MGI:2385092) -chr10 97572440 97583883 10q23.31-q23.32 10q24.2 610734 ANKRD2, ARPP Ankyrin repeat domain-containing protein 2 ANKRD2 26287 ENSG00000165887 Ankrd2 (MGI:1861447) -chr10 97584388 97612801 10q24.2 10q24.2 613597 HOGA1, DHDPSL, HP3 4-hydroxy-2-oxoglutarate aldolase 1 HOGA1 112817 ENSG00000241935 Hyperoxaluria, primary, type III, 613616 (3), Autosomal recessive Hoga1 (MGI:1914682) -chr10 97614554 97634155 10q24.2 10q24.2 617736 MORN4, RTP, UTA MORN repeat-containing protein 4 MORN4 118812 ENSG00000171160 Morn4 (MGI:2449568) -chr10 97640685 97676433 10q24 10q24.2 609763 PI4K2A Phosphatidylinositol 4-kinase type 2 alpha PI4K2A 55361 ENSG00000155252 Pi4k2a (MGI:1934031) -chr10 97677421 97687431 10q24.2 10q24.2 618537 AVPI1, VIT32 Arginine vasopressin-induced protein 1 AVPI1 60370 ENSG00000119986 Avpi1 (MGI:1916784) -chr10 97713729 97718149 10q24.2 10q24.2 616970 MARVELD1, MARVD1 Marvel domain-containing protein 1 MARVELD1 83742 ENSG00000155254 Marveld1 (MGI:2147570) -chr10 97737122 97760895 10q24.2 10q24.2 610243 ZFYVE27, SPG33 Zinc finger FYVE domain-containing protein 27 ZFYVE27 118813 ENSG00000155256 Spastic paraplegia 33, autosomal dominant, 610244 (3), Autosomal dominant Zfyve27 (MGI:1919602) -chr10 97766750 97771998 10q24.1 10q24.2 604158 SFRP5, SARP3 Secreted frizzled-related protein 5 SFRP5 6425 ENSG00000120057 Sfrp5 (MGI:1860298) -chr10 97849842 97871577 10q22 10q24.2 614189 GOLGA7B, C10orf132 Golgin A7 family, member B GOLGA7B 401647 ENSG00000155265 Golga7b (MGI:1918396) -chr10 97854710 98030620 10q24.2 10q24.2 606276 CRTAC1, CEP68, LOTUS Cartilage acidic protein 1 CRTAC1 55118 ENSG00000095713 Crtac1 (MGI:1920082) -chr10 98247689 98268220 10q24 10q24.2 607318 LOXL4 Lysyl oxidate-like 4 LOXL4 84171 ENSG00000138131 Loxl4 (MGI:1914823) -chr10 98383564 98415181 10q24.2 10q24.2 617889 PYROXD2, C10orf33, YUEF Pyridine nucleotide-disulphide oxidoreductase domain-containing protein 2 PYROXD2 84795 ENSG00000119943 Pyroxd2 (MGI:1921830) -chr10 98416192 98446962 10q23.1 10q24.2 604982 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 HPS1 3257 ENSG00000107521 Hermansky-Pudlak syndrome 1, 203300 (3), Autosomal recessive Hps1 (MGI:2177763) -chr10 98457076 99235874 10q23-q24 10q24.2 613469 HPSE2, HPA2, UFS1 Heparanase 2 HPSE2 60495 ENSG00000172987 Urofacial syndrome 1, 236730 (3), Autosomal recessive Hpse2 (MGI:2685814) -chr10 99329100 99394329 10q23-q24 10q24.2 607802 CNNM1, ACDP1 Cyclin M1 (ancient conserved domain protein 1) CNNM1 26507 ENSG00000119946 Cnnm1 (MGI:1891366) -chr10 99396869 99430623 10q24.1-q25.1 10q24.2 138180 GOT1, ASTQTL1 Glutamic-oxaloacetic transaminase 1, soluble GOT1 2805 ENSG00000120053 10q26.1 = conflicting localization Aspartate aminotransferase, serum level of, QTL1, 614419 (3) Got1 (MGI:95791) -chr10 99532941 99536523 10q24.2 10q24.2 606727 NKX2C, NK2.3, CSX3 NK2, Drosophila, homolog of, C NKX2-3 159296 ENSG00000119919 Nkx2-3 (MGI:97348) -chr10 99610521 99659506 10q24 10q24.2 609767 SLC25A28, MRS4L, NPD016 Solute carrier family 25 (mitochondrial carrier), member 28 SLC25A28 81894 ENSG00000155287 Slc25a28 (MGI:2180509) -chr10 99659508 99711240 10q23-q24 10q24.2 616753 ENTPD7, LALP1 Ectonucleoside triphosphate diphosphohydrolase 7 ENTPD7 57089 ENSG00000198018 Entpd7 (MGI:2135885) -chr10 99694292 99732130 10q24 10q24.2 603646 COX15, MC4DN6 Cytochrome c oxidase, subunit 15 COX15 1355 ENSG00000014919 Mitochondrial complex IV deficiency, nuclear type 6, 615119 (3), Autosomal recessive Cox15 (MGI:1920112) -chr10 99732233 99756133 10q24 10q24.2 610101 CUTC CutC copper transporter, E. coli, homolog of CUTC 51076 ENSG00000119929 Cutc (MGI:1913638) -chr10 99782601 99853740 10q24 10q24.2 601107 ABCC2, CMOAT ATP-binding cassette, subfamily C, member 2 (canalicular multispecific organic anion transporter) ABCC2 1244 ENSG00000023839 Dubin-Johnson syndrome, 237500 (3), Autosomal recessive Abcc2 (MGI:1352447) -chr10 99875570 100009947 10q24.2 10q24.2 611282 DNMBP, TUBA, KIAA1010, CTRCT48 Dynamin-binding protein DNMBP 23268 ENSG00000107554 Cataract 48, 618415 (3), Autosomal recessive Dnmbp (MGI:1917352) -chr10 100042192 100081868 10q24.2 10q24.2 603103 CPN1, SCPN, CPN Carboxypeptidase N, polypeptide 1, 50-kD CPN1 1369 ENSG00000120054 Carboxypeptidase N deficiency, 212070 (3), Autosomal recessive Cpn1 (MGI:2135874) -chr10 100150093 100186028 10q24.31 10q24.31 611604 ERLIN1, SPG62 Endoplasmic reticulum lipid raft-associated protein 1 ERLIN1 10613 ENSG00000107566 Spastic paraplegia 62, 615681 (3), Autosomal recessive Erlin1 (MGI:2387613) -chr10 100188299 100229609 10q24 10q24.31 600664 CHUK, IKBKA, NFKBIKA, IKKA, IKK1, BPS2 Component of nuclear factor kappa-B kinase complex CHUK 1147 ENSG00000213341 mutation identified in 1 BPS2 patient ?Popliteal pterygium syndrome, Bartsocas-Papas type 2, 619339 (3); Cocoon syndrome, 613630 (3) Chuk (MGI:99484) -chr10 100232297 100267637 10q24.31 10q24.31 616120 CWF19L1, C19L1, SCAR17 CWF19-like cell cycle control factor 1 CWF19L1 55280 ENSG00000095485 Spinocerebellar ataxia, autosomal recessive 17, 616127 (3), Autosomal recessive Cwf19l1 (MGI:1919752) -chr10 100237155 100237301 10q24.31 10q24.31 611330 SNORA12 Small nucleolar RNA, H/ACA box, 12 SNORA12 677800 ENSG00000212464 in intron 11 of CWF19L1 -chr10 100273277 100286691 10q24.31 10q24.31 609768 BLOC1S2, BLOS2 Biogenesis of lysosome-related organelles complex 1, subunit 2 BLOC1S2 282991 ENSG00000196072 Bloc1s2,Bloc1s2-ps (MGI:1920939,MGI:3702045) -chr10 100288144 100347029 10q24-q25 10q24.31 604532 PKD2L1, PKDL, PKD2L Polycystin L PKD2L1 9033 ENSG00000107593 Pkd2l1 (MGI:1352448) -chr10 100347232 100364825 10q24.31 10q24.31 604031 SCD Stearoyl-CoA desaturase SCD 6319 ENSG00000099194 pseudogene on chr.17 Scd4,Scd3,Scd2,Scd1 (MGI:98240,MGI:2670997,MGI:1353437,MGI:98239) -chr10 100373575 100388353 10q24.31 10q24.31 616240 OLMALINC, LINC00263, OLMALINCAS Oligodendrocyte maturation-associated long intergenic noncoding RNA OLMALINC 90271 ENSG00000235823 OLMALINCAS is on opposite strand overlapping exon 1 of OLMALINC -chr10 100463008 100483743 10q24 10q24.31 601396 WNT8B Wingless-type MMTV integration site family, member 8B WNT8B 7479 ENSG00000075290 Wnt8b (MGI:109485) -chr10 100486646 100519860 10q24.3 10q24.31 610258 SEC31B, SEC31L2 SEC31 homolog B, COPII coat complex component SEC31B 25956 ENSG00000075826 Sec31b (MGI:2685187) -chr10 100523728 100529922 10q23.2-q23.33 10q24.31 602140 NDUFB8, MC1DN32 NADH-ubiquinone oxidoreductase subunit B8 NDUFB8 4714 ENSG00000166136 previously assigned to 12q21 Mitochondrial complex I deficiency, nuclear type 32, 618252 (3), Autosomal recessive Ndufb8 (MGI:1914514) -chr10 100535920 100559997 10q24 10q24.31 606615 HIF1AN, FIH1 Hypoxia-inducible factor 1-alpha inhibitor HIF1AN 55662 ENSG00000166135 Hif1an (MGI:2442345) -chr10 100735395 100829943 10q24.3-q25.1 10q24.31 167409 PAX2, PAPRS, FSGS7 Paired box homeotic gene-2 PAX2 5076 ENSG00000075891 Glomerulosclerosis, focal segmental, 7, 616002 (3), Autosomal dominant; Papillorenal syndrome, 120330 (3), Autosomal dominant Pax2 (MGI:97486) -chr10 100909415 100965133 10q24 10q24.31 610348 FAM178A, C10orf6 Family with sequence similarity 178, member A SLF2 55719 ENSG00000119906 Slf2 (MGI:1924968) -chr10 100969502 100985617 10q24.31 10q24.31 618991 SEMA4G Semaphorin 4G SEMA4G 57715 ENSG00000095539 Sema4g (MGI:1347047) -chr10 100977819 100987513 10q24 10q24.31 611848 MRPL43 Mitochondrial ribosomal protein L43 MRPL43 84545 ENSG00000055950 Mrpl43 (MGI:2137229) -chr10 100987542 100994402 10q24 10q24.31 606075 TWNK, C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5 Twinkle mtDNA helicase TWNK 56652 ENSG00000107815 PEO digenic with POLG Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3), Autosomal dominant; Perrault syndrome 5, 616138 (3), Autosomal recessive Twnk (MGI:2137410) -chr10 100996587 101007832 10q24.3 10q24.31 610454 LZTS2, KIAA1813, LAPSER1 Leucine zipper, putative tumor suppressor 2 LZTS2 84445 ENSG00000107816 Lzts2 (MGI:2385095) -chr10 101007678 101031144 10q24.3 10q24.31 612971 PDZD7, DFNB57 PDZ domain-containing 7 PDZD7 79955 ENSG00000186862 Deafness, autosomal recessive 57, 618003 (3), Autosomal recessive; {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3), Autosomal recessive; Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3), Digenic dominant, Autosomal recessive Pdzd7 (MGI:3608325) -chr10 101031233 101041242 10q24.31 10q24.31 615571 SFXN3 Sideroflexin 3 SFXN3 81855 ENSG00000107819 Sfxn3 (MGI:2137679) -chr10 101061084 101068130 10q24.31 10q24.31 609208 KAZALD1 Kazal-type serine peptidase inhibitor domain 1 KAZALD1 81621 ENSG00000107821 Kazald1 (MGI:2147606) -chr10 101089320 101141265 10q24 10q24.31 612734 TLX1NB, TD1 TLX1 neighbor TLX1NB 100038246 ENSG00000236311 -chr10 101130772 101137788 10q24 10q24.31 186770 TLX1, HOX11, TCL3 T-cell leukemia, homeobox 1 TLX1 3195 ENSG00000107807 t(7;10) or t(10;4) in T-ALL Tlx1 (MGI:98769) -chr10 101200000 110100000 10q24.32-q25.1 614927 ECTD5 Ectodermal dysplasia 5, hair/nail type 101101769 between D10S1239 and D10S1264 Ectodermal dysplasia 5, hair/nail type, 614927 (2), Autosomal recessive -chr10 101226993 101229462 10q24 10q24.32 604255 LBX1, LBX1H Lady bird late, Drosophila, homolog of, 1 LBX1 10660 ENSG00000138136 Lbx1 (MGI:104867) -chr10 101353807 101557312 10q24-q25 10q24.32 603482 BTRC, BTRCP Beta-transducin repeat-containing protein BTRC 8945 ENSG00000166167 Btrc (MGI:1338871) -chr10 101578881 101588318 10q23 10q24.32 606343 POLL Polymerase, DNA, lambda POLL 27343 ENSG00000166169 Poll (MGI:1889000) -chr10 101588320 101609661 10q24.32 10q24.32 616467 DPCD Deleted in primary ciliary dyskinesia, mouse, homolog of DPCD 25911 ENSG00000166171 Dpcd (MGI:1924407) -chr10 101610663 101695294 10q24 10q24.32 608071 FBXW4, DAC, FBW4, FBWD4 F-box and WD repeat domain containing 4 FBXW4 6468 ENSG00000107829 Fbxw4 (MGI:1354698) -chr10 101770108 101780368 10q24 10q24.32 600483 FGF8, HH6 Fibroblast growth factor-8 FGF8 2253 ENSG00000107831 Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3), Autosomal dominant Fgf8 (MGI:99604) -chr10 101781324 101783412 10q24-q26 10q24.32 606456 NPM3 Nucleophosmin/nucleoplasmin family, member 3 NPM3 10360 ENSG00000107833 Npm3 (MGI:894653) -chr10 101784444 101818708 10q24.1-q24.3 10q24.32 604039 OGA, MGEA5, NCOAT O-GlcNAcase OGA 10724 ENSG00000198408 Oga (MGI:1932139) -chr10 101825970 101843874 10q24.32 10q24.32 604661 KCNIP2, KCHIP2 Potassium channel-interacting protein 2 KCNIP2 30819 ENSG00000120049 Kcnip2 (MGI:2135916) -chr10 102065348 102068035 10q24.32 10q24.32 607522 HPS6, RU HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 HPS6 79803 ENSG00000166189 Hermansky-Pudlak syndrome 6, 614075 (3), Autosomal recessive Hps6 (MGI:2181763) -chr10 102102099 102120367 10q24-q25 10q24.32 603451 LDB1, CLIM2, NLI LIM domain-binding factor-1 LDB1 8861 ENSG00000198728 Ldb1 (MGI:894762) -chr10 102120633 102150332 10q24.2-q24.3 10q24.32 617462 PPRC1, PRC, KIAA0595 Peroxisome proliferator-activated receptor-gamma, coactivator-related protein 1 PPRC1 23082 ENSG00000148840 Pprc1 (MGI:2385096) -chr10 102152369 102163869 10q24.32 10q24.32 602394 NOLC1, p130, NOPP140 Nucleolar and coiled-body phosphoprotein 1 NOLC1 9221 ENSG00000166197 Nolc1 (MGI:1918019) -chr10 102224766 102229588 10q24.32 10q24.32 611815 ELOVL3, CIG30 Elongation of very long chain fatty acids-like 3 ELOVL3 83401 ENSG00000119915 Elovl3 (MGI:1195976) -chr10 102230188 102241511 10q25 10q24.32 602669 PITX3, CTPP4, CTRCT11, ASGD1 Paired-like homeodomain transcription factor-3 PITX3 5309 ENSG00000107859 Cataract 11, multiple types, 610623 (3), Autosomal dominant, Autosomal recessive; Anterior segment dysgenesis 1, multiple subtypes, 107250 (3), Autosomal dominant; Cataract 11, syndromic, autosomal recessive, 610623 (3), Autosomal dominant, Autosomal recessive Pitx3 (MGI:1100498) -chr10 102230642 102382898 10q24 10q24.32 603698 GBF1 Golgi-specific brefeldin-A resistance factor 1 GBF1 8729 ENSG00000107862 Gbf1 (MGI:1861607) -chr10 102394109 102402528 10q24 10q24.32 164012 NFKB2, LYT10, CVID10 Nuclear factor kappa-B, subunit 2 (p49/p100) NFKB2 4791 ENSG00000077150 Immunodeficiency, common variable, 10, 615577 (3), Autosomal dominant Nfkb2 (MGI:1099800) -chr10 102402618 102420163 10q24 10q24.32 602327 PSD Pleckstrin and Sec7 domain protein PSD 5662 ENSG00000059915 Psd (MGI:1920978) -chr10 102419221 102423137 10q24.32 10q24.32 610287 FBXL15, JET F-box and leucine-rich repeat protein 15 FBXL15 79176 ENSG00000107872 Fbxl15 (MGI:1915681) -chr10 102423248 102432573 10q24.32 10q24.32 614142 CUEDC2 Cue domain-containing protein 2 CUEDC2 79004 ENSG00000107874 Cuedc2 (MGI:1914366) -chr10 102436511 102436583 10q24.32 10q24.32 610567 MIR146B Micro RNA 146B MIR146B 574447 ENSG00000202569 Mir146b (MGI:3629945) -chr10 102479228 102502711 10q24.32 10q24.32 605143 ACTR1A, ARP1 Actin-related protein 1A ACTR1A 10121 ENSG00000138107 Actr1a (MGI:1858964) -chr10 102502800 102633534 10q24-q25 10q24.32 607035 SUFU, SUFUXL, SUFUH, JBTS32 Suppressor of fused SUFU 51684 ENSG00000107882 {Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant; Joubert syndrome 32, 617757 (3), Autosomal recessive; Medulloblastoma, desmoplastic, 155255 (3), Somatic mutation, Autosomal dominant, Autosomal recessive; Basal cell nevus syndrome, 109400 (3), Autosomal dominant Sufu (MGI:1345643) -chr10 102644478 102658318 10q24.3 10q24.32 606125 TRIM8, RNF27, GERP, FSGSNEDS Tripartite motif-containing 8 TRIM8 81603 ENSG00000171206 Focal segmental glomerulosclerosis and neurodevelopmental syndrome, 619428 (3), Autosomal dominant Trim8 (MGI:1933302) -chr10 102673730 102714396 10q23.3 10q24.32 604695 ARL3, ARFL3, JBTS35, RP83 ADP ribosylation factor-like GTPase 3 ARL3 403 ENSG00000138175 Retinitis pigmentosa 83, 618173 (3), Autosomal dominant; Joubert syndrome 35, 618161 (3), Autosomal recessive Arl3 (MGI:1929699) -chr10 102714630 102743491 10q24.32 10q24.32 615570 SFXN2 Sideroflexin 2 SFXN2 118980 ENSG00000156398 Sfxn2 (MGI:2137678) -chr10 102742707 102816266 10q24.32 10q24.32 611129 C10orf26, OPAL1 Chromosome 10 open reading frame 26 WBP1L 54838 ENSG00000166272 Wbp1l (MGI:107577) -chr10 102830530 102837412 10q24.3 10q24.32 609300 CYP17A1, CYP17, P450C17 Cytochrome P450, family 17, subfamily A, polypeptide 1 (steroid 17-alpha-hydroxylase) CYP17A1 1586 ENSG00000148795 at least 2 genes; distal to GOT1 17,20-lyase deficiency, isolated, 202110 (3), Autosomal recessive; 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3), Autosomal recessive Cyp17a1 (MGI:88586) -chr10 102854258 102864960 10q24.32 10q24.32 616600 BORCS7, C10orf32 BLOC1-related complex, subunit 7 BORCS7 119032 ENSG00000166275 Borcs7 (MGI:1913689) -chr10 102869469 102901898 10q24 10q24.32 611806 AS3MT, CYT19 Arsenic (+3 oxidation state) methyltransferase AS3MT 57412 ENSG00000214435 As3mt (MGI:1929882) -chr10 102918293 103090221 10q24.33 10q24.32 607803 CNNM2, ACDP2, HOMG6, HOMGSMR Cyclin M2 CNNM2 54805 ENSG00000148842 Hypomagnesemia 6, renal, 613882 (3), Autosomal dominant; Hypomagnesemia, seizures, and mental retardation, 616418 (3), Autosomal dominant, Autosomal recessive Cnnm2 (MGI:2151054) -chr10 103088016 103193300 10q24.3 10q24.32-q24.33 600417 NT5C2, NT5B, PNT5, SPG45 5' nucleotidase, cytosolic II NT5C2 22978 ENSG00000076685 Spastic paraplegia 45, autosomal recessive, 613162 (3), Autosomal recessive Nt5c2 (MGI:2178563) -chr10 103100000 104000000 10q24 605526 AD6 Alzheimer disease 6 64851 Alzheimer disease 6, 605526 (2) -chr10 103100000 104000000 10q24 246560 SHFM3, SHSF3, DUP10q24, C10DUPq24 Split-hand/foot malformation 3 (Chromosome 10q24 duplication syndrome) contiguous gene duplication syndrome Split-hand/foot malformation 3, gene duplication syndrome, 246560 (4), Autosomal dominant -chr10 103277137 103290345 10q24.33 10q24.33 605338 INA, NF66, NEF5 Internexin, alpha INA 9118 ENSG00000148798 Ina (MGI:96568) -chr10 103302795 103351139 10q24.33 10q24.33 607816 PCGF6, RNF134, MBLR Polycomb group ring finger 6 PCGF6 84108 ENSG00000156374 Pcgf6 (MGI:1918291) -chr10 103367975 103389064 10q24-q25.2 10q24.33 601787 TAF5, TAF2D, TAFII100 TAF5 RNA polymerase II, TATA box binding protein-associated factor, 100kD TAF5 6877 ENSG00000148835 Taf5 (MGI:2442144) -chr10 103389049 103396504 10q24 10q24.33 615204 ATP5MD, USMG5, DAPIT, MC5DN6 ATP synthase membrane subunit DAPIT ATP5MK 84833 ENSG00000173915 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, 618683 (3), Autosomal recessive Gm14539,Atp5md (MGI:1891435,MGI:3705371) -chr10 103396614 103446294 10q24.2-q25.1 10q24.33 612333 PDCD11, ALG4, NFBP, KIAA0185 Programmed cell death 11 PDCD11 22984 ENSG00000148843 Pdcd11 (MGI:1341788) -chr10 103446782 103452402 10q24.33 10q24.33 612235 CALHM2, FAM26B Calcium homeostasis modulator 2 CALHM2 51063 ENSG00000138172 Calhm2 (MGI:1919941) -chr10 103453239 103458899 10q24.33 10q24.33 612234 CALHM1, FAM26C Calcium homeostasis modulator 1 CALHM1 255022 ENSG00000185933 ?Alzheimer disease, 605526 Calhm1 (MGI:3643383) -chr10 103472803 103479239 10q24.33 10q24.33 618263 CALHM3 Calcium homeostasis modulator 3 CALHM3 119395 ENSG00000183128 Calhm3 (MGI:3645665) -chr10 103493704 103592545 10q25.1 10q24.33 603804 NEURL1, NEURL, NEUR1 Neuralized E3 ubiquitin protein ligase 1 NEURL1 9148 ENSG00000107954 Neurl1a (MGI:1334263) -chr10 103594026 103855575 10q24.33 10q24.33 619455 SH3PXD2A, FISH, TKS5 SH3 and PX domains-containing protein 2A SH3PXD2A 9644 ENSG00000107957 Sh3pxd2a (MGI:1298393) -chr10 103877568 103918183 10q24.33 10q24.33 613128 STN1, OBFC1, AAF44 STN1, CST complex subunit STN1 79991 ENSG00000107960 Cerebroretinal microangiopathy with calcifications and cysts 2, 617341 (3), Autosomal recessive Stn1 (MGI:1915581) -chr10 103967099 104029232 10q24.33-q25.1 10q24.3-q25.1 616563 SLK, LOSK, KIAA0204 STE20-like protein kinase SLK 9748 ENSG00000065613 Slk (MGI:103241) -chr10 104031285 104085879 10q24.3 10q25.1 113811 COL17A1, BPAG2, ERED Collagen XVII, alpha-1 polypeptide COL17A1 1308 ENSG00000065618 Epithelial recurrent erosion dystrophy, 122400 (3), Autosomal dominant; Epidermolysis bullosa, junctional, localisata variant, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive Col17a1 (MGI:88450) -chr10 104120165 104126384 10q25.1 10q25.1 616527 SFR1, MEI5, C10orf78 SWI5-dependent homologous recombination repair protein 1 SFR1 119392 ENSG00000156384 Sfr1 (MGI:1915038) -chr10 104129887 104232363 10q25.1 10q25.1 617558 CFAP43, WDR96, C10orf79, SPGF19, HYDNP1 Cilia- and flagella-associated protein 43 CFAP43 80217 ENSG00000197748 mutation identified in 1 HYDNP1 family Hydrocephalus, normal pressure, 1, 236690 (3), Autosomal dominant; Spermatogenic failure 19, 617592 (3), Autosomal recessive Cfap43 (MGI:1289258) -chr10 104254172 104267454 10q24-q25 10q25.1 605482 GSTO1 Glutathione S-transferase, omega-1 GSTO1 9446 ENSG00000148834 Gsto1 (MGI:1342273) -chr10 104267625 104304949 10q24-q25 10q25.1 612314 GSTO2 Glutathione S-transferase, omega-2 GSTO2 119391 ENSG00000065621 Gsto2 (MGI:1915464) -chr10 104353832 104455101 10q25.1 10q25.1 619129 CFAP58, SPGF49 Cilia- and flagella-associated protein 58 CFAP58 159686 ENSG00000120051 Spermatogenic failure 49, 619144 (3) Cfap58 (MGI:2685815) -chr10 104641289 105265241 10q23.3 10q25.1 606285 SORCS3, KIAA1059 SORCS receptor 3 SORCS3 22986 ENSG00000156395 Sorcs3 (MGI:1913923) -chr10 106573662 107181137 10q23.3 10q25.1 606283 SORCS1 Sortilin-related VPS10 domain-containing receptor 1 SORCS1 114815 ENSG00000108018 Sorcs1 (MGI:1929666) -chr10 109864765 109923510 10q25.3 10q25.1 602443 XPNPEP1, SAMP, XPNPEPL X-prolyl aminopeptidase P1 XPNPEP1 7511 ENSG00000108039 Xpnpep1 (MGI:2180003) -chr10 109996364 110135564 10q24.2-q24.3 10q25.1-q25.2 601568 ADD3, ADDL, CPSQ3 Adducin-3, gamma ADD3 120 ENSG00000148700 fusion with NUP98 in T-ALL Cerebral palsy, spastic quadriplegic, 3, 617008 (3), Autosomal recessive Add3 (MGI:1351615) -chr10 110207604 110287364 10q25 10q25.2 600020 MXI1 MAX-interacting protein 1 MXI1 4601 ENSG00000119950 Prostate cancer, somatic, 176807 (3); Neurofibrosarcoma, somatic (3) Mxi1 (MGI:97245) -chr10 110290729 110304968 10q23 10q25.2 603519 SMNR, SPF30 Survival motor neuron-related protein SMNDC1 10285 ENSG00000119953 Smndc1 (MGI:1923729) -chr10 110497906 110511532 10q25 10q25.2 603069 DUSP5, HVH3 Dual-specificity phosphatase-5 DUSP5 1847 ENSG00000138166 Dusp5 (MGI:2685183) -chr10 110567694 110606047 10q25 10q25.2 606062 SMC3, CSPG6, HCAP, BAM, CDLS3 Structural maintenance of chromosomes 3 SMC3 9126 ENSG00000108055 Cornelia de Lange syndrome 3, 610759 (3), Autosomal dominant Smc3 (MGI:1339795) -chr10 110641932 110839470 10q25.2 10q25.2 613171 RBM20 RNA-binding motif protein 20 RBM20 282996 ENSG00000203867 Cardiomyopathy, dilated, 1DD, 613172 (3), Autosomal dominant Rbm20 (MGI:1920963) -chr10 110871927 110900005 10q24 10q25.2 608610 PDCD4 Programmed cell death 4 PDCD4 27250 ENSG00000150593 Pdcd4 (MGI:107490) -chr10 110898729 110919365 10q25.2 10q25.2 613605 BBIP1, NCRNA00081, BBIP10, BBS18 BBSome interacting protein 1 BBIP1 92482 ENSG00000214413 mutation identified in 1 BBS18 family ?Bardet-Biedl syndrome 18, 615995 (3), Autosomal recessive Bbip1 (MGI:1913610) -chr10 110919369 111013664 10q25 10q25.2 602775 SHOC2, SIAA0862, SOC2, SUR8, NSLH1 SHOC2 leucine-rich repeat scaffold protein SHOC2 8036 ENSG00000108061 Noonan syndrome-like with loose anagen hair 1, 607721 (3), Autosomal dominant Shoc2 (MGI:1927197) -chr10 111077028 111080906 10q24-q26 10q25.2 104210 ADRA2A, ADRA2R Adrenergic, alpha-2A-, receptor ADRA2A 150 ENSG00000150594 Adra2a (MGI:87934) -chr10 112149864 112216305 10q24-q26 10q25.2 602395 GPAM Glycerol-3-phosphate acyltransferase GPAM 57678 ENSG00000119927 Gpam (MGI:109162) -chr10 112283399 112305037 10q25.2 10q25.2 602653 TECTB Tectorin, beta TECTB 6975 ENSG00000119913 Tectb (MGI:109574) -chr10 112374115 112428375 10q25.1-q25.2 10q25.2 605677 ACSL5, FACL5, ACS5 Acyl-CoA synthetase long-chain family member 5 ACSL5 51703 ENSG00000197142 Acsl5 (MGI:1919129) -chr10 112424410 112447571 10q25.2 10q25.2 618715 ZDHHC6, DHHC6 Zinc finger DHHC-type palmitoyltransferase 6 ZDHHC6 64429 ENSG00000023041 Zdhhc6 (MGI:1914230) -chr10 112446987 112855367 10q25.2 10q25.2 614316 VTI1A, VTI1RP2, MMDS3 Vesicle transport through interaction with T-snares 1A VTI1A 143187 ENSG00000151532 Vti1a (MGI:1855699) -chr10 112950246 113167677 10q25.3 10q25.2-q25.3 602228 TCF7L2, TCF4 Transcription factor 7-like 2 TCF7L2 6934 ENSG00000148737 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant Tcf7l2 (MGI:1202879) -chr10 113100000 133797422 10q25-q26 609750 EIG4 Epilepsy, idiopathic generalized, susceptibility to 4 780913 between D16S397 and D16S3095 {Epilepsy, idiopathic generalized, susceptibility to 4}, 609750 (2) -chr10 113100000 117300000 10q25 603266 IDDM17 Insulin-dependent diabetes mellitus-17 8691 {Diabetes mellitus, insulin-dependent, 17}, 603266 (2) -chr10 113550830 113589601 10q25-q26 10q25.3 603924 HABP2, PHBP, HGFAL, FSAP, NMTC5 Hyaluronan-binding protein 2 HABP2 3026 ENSG00000148702 mutation identified in 1 NMTC5 family {?Thyroid cancer, nonmedullary, 5}, 616535 (3), Autosomal dominant; {Venous thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant Habp2 (MGI:1196378) -chr10 113588713 113664045 10q24-q26 10q25.3 602873 NRAP Nebulin-related anchoring protein NRAP 4892 ENSG00000197893 Nrap (MGI:1098765) -chr10 113679193 113730908 10q25.1-q25.2 10q25.3 601761 CASP7, MCH3 Caspase 7, apoptosis-related cysteine protease CASP7 840 ENSG00000165806 Casp7 (MGI:109383) -chr10 113834724 113854393 10q25.1 10q25.3 609682 DCLRE1A, SNM1, SNM1A, KIAA0086 DNA cross-link repair protein 1A DCLRE1A 9937 ENSG00000198924 Dclre1a (MGI:1930042) -chr10 113854633 113917193 10q25 10q25.3 618277 NHLRC2, FINCA NHL repeat-containing protein 2 NHLRC2 374354 ENSG00000196865 FINCA syndrome, 618278 (3), Autosomal recessive Nhlrc2 (MGI:1914116) -chr10 114043865 114046903 10q24-q26 10q25.3 109630 ADRB1, ADRB1R, RHR, FNSS2 Adrenergic, beta-1-, receptor ADRB1 153 ENSG00000043591 close linkage to ADRA2R [Short sleep, familial natural, 2], 618591 (3), Autosomal dominant; [Resting heart rate], 607276 (3) Adrb1 (MGI:87937) -chr10 114120861 114174254 10q25.3 10q25.3 619249 CCDC186, CCCP1, C10orf118 Coiled-coil domain-containing protein 186 CCDC186 55088 ENSG00000165813 Ccdc186 (MGI:2445022) -chr10 114174441 114232668 10q25.3 10q25.3 605796 TDRD1 Tudor domain protein 1 TDRD1 56165 ENSG00000095627 Tdrd1 (MGI:1933218) -chr10 114239253 114294499 10q25.3 10q25.3 618281 VWA2, CCSP2, AMACO von Willebrand factor A domain-containing protein 2 VWA2 340706 ENSG00000165816 Vwa2 (MGI:2684334) -chr10 114280759 114404671 10q25.3 10q25.3 612420 AFAP1L2, XB130, KIAA1914 Actin filament-associated protein 1-like protein 2 AFAP1L2 84632 ENSG00000169129 Afap1l2 (MGI:2147658) -chr10 114431109 114821642 10q25 10q25.3 602330 LIMAB1 LIM actin-binding protein-1 ABLIM1 3983 ENSG00000099204 Ablim1 (MGI:1194500) -chr10 114821779 114899831 10q25.3 10q25.3 617312 FAM160B1, KIAA1600 Family with sequence similarity 160, member B1 FHIP2A 57700 ENSG00000151553 Fhip2a (MGI:2147545) -chr10 114938194 114977675 10q25.3 10q25.3 610726 TRUB1, PUS4 TRUB pseudouridine synthase, E. coli, homolog of, 1 TRUB1 142940 ENSG00000165832 Trub1 (MGI:1919383) -chr10 115093364 115948998 10q26 10q25.3 612869 ATRNL1, KIAA0534, ALP Attractin-like 1 ATRNL1 26033 ENSG00000107518 Atrnl1 (MGI:2147749) -chr10 116056924 116274704 10q26 10q25.3 601496 GFRA1, GDNFRA, GDNFR GDNF family receptor, alpha-1 GFRA1 2674 ENSG00000151892 Gfra1 (MGI:1100842) -chr10 116545930 116567854 10q26.1 10q25.3 246600 PNLIP, PNLIPD Pancreatic lipase PNLIP 5406 ENSG00000175535 mutation identified in 1 family ?Pancreatic lipase deficiency, 614338 (3), Autosomal recessive Pnlip (MGI:97722) -chr10 116590958 116609174 10q25.3 10q25.3 604422 PNLIPRP1, PLRP1 Pancreatic lipase-related protein 1 PNLIPRP1 5407 ENSG00000187021 Pnliprp1 (MGI:97723) -chr10 116620952 116645142 10q25.3 10q25.3 604423 PNLIPRP2, PLRP2 Pancreatic lipase-related protein 2 PNLIPRP2 5408 ENSG00000266200 Pnliprp2 (MGI:1336202) -chr10 116671191 116853271 10q26.12 10q25.3 610701 HSPA12A, KIAA0417 Heat-shock 70kD protein 12A HSPA12A 259217 ENSG00000165868 Hspa12a (MGI:1920692) -chr10 116881476 117126585 10q25.3 10q25.3 611171 SHTN1, KIAA1598, SHOOTIN1 Shootin1 SHTN1 57698 ENSG00000187164 Shtn1 (MGI:1918903) -chr10 117128519 117138269 10q26.1 10q25.3 604294 VAX1, MCOPS11 Ventral anterior homeo box 1 VAX1 11023 ENSG00000148704 mutation identified in one MCOPS11 family ?Microphthalmia, syndromic 11, 614402 (3), Autosomal recessive Vax1 (MGI:1277163) -chr10 117197488 117210298 10q25.3 10q25.3 613655 KCNK18, TRESK, TRIK, MGR13 Potassium channel, subfamily K, member 18 KCNK18 338567 ENSG00000186795 {Migraine, with or without aura, susceptibility to, 13}, 613656 (3), Autosomal dominant Kcnk18 (MGI:2685627) -chr10 117241113 117279429 10q25 10q25.3 193001 SLC18A2, VAT2, SVMT, PKDYS2 Solute carrier family 18 (vesicular monoamine), member 2 SLC18A2 6571 ENSG00000165646 mutation identified in 1 PKDYS2 family ?Parkinsonism-dystonia, infantile, 2, 618049 (3), Autosomal recessive Slc18a2 (MGI:106677) -chr10 117277273 117375491 10q25.3-q26.11 10q-q 614235 PDZD8 PDZ domain-containing protein 8 PDZD8 118987 ENSG00000165650 Pdzd8 (MGI:2677270) -chr10 117484292 117545067 10q26 10q26.11 607637 EMX2OS EMX2 opposite strand/ antisense RNA EMX2OS 196047 ENSG00000229847 non-coding RNA Emx2os (MGI:3052329) -chr10 117542745 117549545 10q26.1 10q26.11 600035 EMX2 Empty spiracles homeobox 2 EMX2 2018 ENSG00000170370 close to VAX1 Schizencephaly, 269160 (3) Emx2 (MGI:95388) -chr10 118004915 118046940 10q26 10q26.11 608599 RAB11FIP2, KIAA0941 RAB11 family-interacting protein 2 RAB11FIP2 22841 ENSG00000107560 Rab11fip2 (MGI:1922248) -chr10 118046820 118210152 10q26 10q26.11 608598 CASC2 Cancer susceptibility candidate 2 CASC2 255082 ENSG00000177640 head-to-head orientation with RAB11FIP2 -chr10 118589996 118595647 10q25.3-q26 10q26.11 600895 GPR10 G protein-coupled receptor-10 PRLHR 2834 ENSG00000119973 Prlhr (MGI:2135956) -chr10 118676410 118754969 10q26.11 10q26.11 618764 CACUL1, CAC1, C10orf46 CDK2-associated cullin domain-containing protein 1 CACUL1 143384 ENSG00000151893 Cacul1 (MGI:1926082) -chr10 119029713 119033729 10q26.11 10q26.11 608226 NANOS1, NOS1, SPGF12 NANOS C2HC-type zinc finger 1 NANOS1 340719 ENSG00000188613 Spermatogenic failure 12, 615413 (3), Autosomal dominant Nanos1 (MGI:2669254) -chr10 119033669 119080816 10q26 10q26.11 602039 EIF3A, EIF3S10, P167 Eukaryotic translation initiation factor 3, subunit A EIF3A 8661 ENSG00000107581 Eif3a (MGI:95301) -chr10 119140766 119165727 10q26.11 10q26.11 615564 SFXN4, COXPD18 Sideroflexin 4 SFXN4 119559 ENSG00000183605 Combined oxidative phosphorylation deficiency 18, 615578 (3), Autosomal recessive Sfxn4 (MGI:2137680) -chr10 119167719 119178811 10q25-q26 10q26.11 604769 PRDX3, AOP1 Peroxiredoxin 3 (antioxidant protein 1) PRDX3 10935 ENSG00000165672 Prdx3 (MGI:88034) -chr10 119207570 119459744 10q24-qter 10q26.11 600870 GRK5, GPRK5 G protein-coupled receptor kinase 5 GRK5 2869 ENSG00000198873 Grk5 (MGI:109161) -chr10 119499816 119542718 10q26.11 10q26.11 602856 RGS10 Regulator of G protein signaling 10 RGS10 6001 ENSG00000148908 Rgs10 (MGI:1915115) -chr10 119573464 119598840 10q 10q26.11 603413 TIAL1, TIAR, TCBP Tia1 cytotoxic granule-associated RNA-binding protein-like 1 TIAL1 7073 ENSG00000151923 Tial1 (MGI:107913) -chr10 119651379 119677818 10q25.2-q26.2 10q26.11 603883 BAG3, MFM6 BCL2-associated athanogene 3 BAG3 9531 ENSG00000151929 Cardiomyopathy, dilated, 1HH, 613881 (3), Autosomal dominant; Myopathy, myofibrillar, 6, 612954 (3), Autosomal dominant Bag3 (MGI:1352493) -chr10 119704394 119830481 10q26.11 10q26.11 609389 INPP5F, SAC2, KIAA0966 Inositol polyphosphate 5-phosphatase F INPP5F 22876 ENSG00000198825 Inpp5f (MGI:2141867) -chr10 119829439 119873627 10q26.11 10q26.11 610909 MCMBP, C10orf119 Minichromosome maintenance complex-binding protein MCMBP 79892 ENSG00000197771 Mcmbp (MGI:1920977) -chr10 119892695 119944656 10q26.11-q26.12 10q26.11-q26.12 617852 SEC23IP SEC23-interacting protein SEC23IP 11196 ENSG00000107651 Sec23ip (MGI:2450915) -chr10 120851312 120909524 10q26 10q26.12 606417 WDR11, DR11, KIAA1351, BRWD2, HH14 WD repeat-containing protein 11 WDR11 55717 ENSG00000120008 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3), Autosomal dominant Wdr11 (MGI:1920230) -chr10 121478329 121598457 10q26 10q26.13 176943 FGFR2, BEK, CFD1, JWS, TK14, BBDS Fibroblast growth factor receptor-2 (bacteria-expressed kinase) FGFR2 2263 ENSG00000066468 Bent bone dysplasia syndrome, 614592 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3); Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3), Autosomal dominant; Scaphocephaly and Axenfeld-Rieger anomaly (3); Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Craniofacial-skeletal-dermatologic dysplasia, 101600 (3), Autosomal dominant; Apert syndrome, 101200 (3), Autosomal dominant; Pfeiffer syndrome, 101600 (3), Autosomal dominant; Craniosynostosis, nonspecific (3); Beare-Stevenson cutis gyrata syndrome, 123790 (3), Autosomal dominant; Crouzon syndrome, 123500 (3), Autosomal dominant; Saethre-Chotzen syndrome, 101400 (3), Autosomal dominant Fgfr2 (MGI:95523) -chr10 121740423 121928800 10q26.13 10q26.13 607103 ATE1 Arginyltransferase 1 ATE1 11101 ENSG00000107669 Ate1 (MGI:1333870) -chr10 121957087 121975227 10q26.13 10q26.13 612987 NSMCE4A, NSE4A NSE4 homolog A, SMC5-SMC6 complex component NSMCE4A 54780 ENSG00000107672 Nsmce4a (MGI:1915122) -chr10 121989162 122254541 10q26 10q26.13 605302 TACC2 Transforming, acidic, coiled-coil-containing protein 2 TACC2 10579 ENSG00000138162 Tacc2 (MGI:1928899) -chr10 122374674 122442599 10q25.3-q26.2 10q26.13 607772 PLEKHA1, TAPP1 Pleckstrin homology domain-containing protein, family A, member 1 PLEKHA1 59338 ENSG00000107679 Plekha1 (MGI:2442213) -chr10 122454652 122457351 10q26.13 10q26.13 611313 LOC387715, ARMD8 LOC387715 gene ARMS2 387715 ENSG00000254636 {Macular degeneration, age-related, 8}, 613778 (3) -chr10 122461552 122514906 10q25.3-q26.2 10q26.13 602194 HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2 HTRA serine peptidase 1 HTRA1 5654 ENSG00000166033 {Macular degeneration, age-related, neovascular type}, 610149 (3); {Macular degeneration, age-related, 7}, 610149 (3); CARASIL syndrome, 600142 (3), Autosomal recessive; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3), Autosomal dominant Htra1 (MGI:1929076) -chr10 122560676 122643735 10q25.3-q26.1 10q26.13 601969 DMBT1 Deleted in malignant brain tumors 1 DMBT1 1755 ENSG00000187908 Dmbt1 (MGI:106210) -chr10 122832157 122845856 10q26.13 10q26.13 616644 CUZD1, ERG1, ITMAP1 Cub and zona pellucida-like domains 1 CUZD1 50624 ENSG00000138161 Cuzd1 (MGI:1202881) -chr10 122980400 122990389 10q26.13 10q26.13 611310 PSTK, C10orf89 Phosphoseryl-tRNA kinase PSTK 118672 ENSG00000179988 Pstk (MGI:2685945) -chr10 122990805 123008825 10q26.13 10q26.13 606238 IFZF5, ZNFN1A5, PEGASUS, THC7 Ikaros family zinc finger 5 IKZF5 64376 ENSG00000095574 Thrombocytopenia, autosomal dominant, 7, 619130 (3) Ikzf5 (MGI:1914393) -chr10 123009005 123058289 10q25-q26 10q26.13 600301 ACADSB, SBCAD Acyl-Coenzyme A dehydrogenase, short/branched chain ACADSB 36 ENSG00000196177 2-methylbutyrylglycinuria, 610006 (3), Autosomal recessive Acadsb (MGI:1914135) -chr10 123135969 123139422 10q26.13 10q26.13 613380 HMX3, NKX5.1 H6 family homeobox 3 HMX3 340784 ENSG00000188620 Hmx3 (MGI:107160) -chr10 123142420 123150672 10q25.2-q26.3 10q26.13 600647 HMX2 Homeo box (H6 family) 2 HMX2 3167 ENSG00000188816 Hmx2 (MGI:107159) -chr10 123154401 123170466 10q24-q26 10q26.13 603719 BUB3 BUB3 mitotic checkpoint protein BUB3 9184 ENSG00000154473 Bub3 (MGI:1343463) -chr10 123666354 123697398 10q26.2-q26.3 10q26.13 604847 GPR26 G protein-coupled receptor 26 GPR26 2849 ENSG00000154478 Gpr26 (MGI:2441758) -chr10 123745635 123944093 10q26.13 10q26.13 617348 CPXM2, CPX2 Carboxypeptidase X, M14 family, member 2 CPXM2 119587 ENSG00000121898 Cpxm2 (MGI:1926006) -chr10 124006058 124093683 10q26 10q26.13 608277 CHST15, BRAG, KIAA0598 Carbohydrate sulfotransferase 15 CHST15 51363 ENSG00000182022 Chst15 (MGI:1924840) -chr10 124397302 124418922 10q26 10q26.13 613349 OAT, GACR Ornithine aminotransferase OAT 4942 ENSG00000065154 pseudogene at Xp11.2 Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3), Autosomal recessive Oat (MGI:97394) -chr10 124461822 124614140 10q26.13 10q26.13 617231 LHPP Phospholysine phosphohistidine inorganic pyrophosphate phosphatase LHPP 64077 ENSG00000107902 Lhpp (MGI:1923679) -chr10 124619291 124744377 10q26.13 10q26.13 617289 FAM53B, KIAA0140 Family with sequence similarity 53, member B FAM53B 9679 ENSG00000189319 Fam53b (MGI:1925188) -chr10 124757833 124791886 10q26.13 10q26.13 617794 EEF1AKMT2, METTL10 EEF1A lysine methyltransferase 2 EEF1AKMT2 399818 ENSG00000203791 Eef1akmt2 (MGI:1919346) -chr10 124801802 124836669 10q26.13 10q26.13 611144 FAM175B, ABRO1, KIAA0157 Family with sequence similarity 175, member B ABRAXAS2 23172 ENSG00000165660 Abraxas2 (MGI:1926116) -chr10 124939488 124988188 10q26.13 10q26.13 611749 ZRANB1, TRABID Zinc finger- and RAN-binding domain-containing protein 1 ZRANB1 54764 ENSG00000019995 Zranb1 (MGI:106441) -chr10 124984316 125161038 10q26.13 10q26.13 602619 CTBP2 C-terminal-binding protein 2 CTBP2 1488 ENSG00000175029 Ctbp2 (MGI:1201686) -chr10 125766452 125775820 10q26.13 10q26.2 608416 MMP21, HTX7 Matrix metalloproteinase 21 MMP21 118856 ENSG00000154485 Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive Mmp21 (MGI:2664387) -chr10 125784979 125823279 10q25.2-q26.3 10q26.2 606938 UROS Uroporphyrinogen III synthase UROS 7390 ENSG00000188690 Porphyria, congenital erythropoietic, 263700 (3), Autosomal recessive Uros (MGI:98917) -chr10 125823545 125853694 10q25.3-q26.2 10q26.2 611883 BCCIP, TOK1 BRCA2- and CDKN1A-interacting protein BCCIP 56647 ENSG00000107949 Bccip (MGI:1913415) -chr10 125836336 125881291 10q26 10q26.2 607960 DHX32, DDX32 DEAH-box helicase 32 (putative) DHX32 55760 ENSG00000089876 Dhx32 (MGI:2141813) -chr10 125896222 126009598 10q26.2 10q26.2 611640 FANK1 Fibronectin type III and ankyrin repeat domains 1 FANK1 92565 ENSG00000203780 Fank1 (MGI:1914180) -chr10 126012390 126388476 10q26.3 10q26.2 602714 ADAM12, MLTN ADAM metallopeptidase domain 12 ADAM12 8038 ENSG00000148848 Adam12 (MGI:105378) -chr10 126424996 126670692 10q26.2 10q26.2 617735 C10orf90, FATS Chromosome 10 open reading frame 90 C10orf90 118611 ENSG00000154493 D7Ertd443e (MGI:1196431) -chr10 126905427 127452516 10q26.13-q26.3 10q26.2 601403 DOCK1, DOCK180 Dedicator of cytokinesis-1 DOCK1 1793 ENSG00000150760 Dock1 (MGI:2429765) -chr10 127135429 127196590 10q26.2 10q26.2 617129 FAM196A, C10orf141, INSYN2 Family with sequence similarity 196, member A INSYN2A 642938 ENSG00000188916 Insyn2a (MGI:3605068) -chr10 127549308 127553539 10q26.2 10q26.2 609513 NPS Neuropeptide S NPS 594857 ENSG00000214285 Nps (MGI:3642232) -chr10 127737184 127741182 10q26.2 10q26.2 617202 FOXI2 Forkhead box I2 FOXI2 399823 ENSG00000186766 Foxi2 (MGI:3028075) -chr10 127907052 128085854 10q26 10q26.2 600926 PTPRE Protein tyrosine phosphatase, receptor type, epsilon PTPRE 5791 ENSG00000132334 Ptpre (MGI:97813) -chr10 128096658 128126422 10q25-qter 10q26.2 176741 MKI67 Proliferation-related Ki-67 antigen MKI67 4288 ENSG00000148773 Mki67 (MGI:106035) -chr10 128800000 133797422 10q26 615163 CORD17 Cone-rod dystrophy 17 101409267 between D10S1757 and D10S1782 Cone-rod dystrophy 17, 615163 (2), Autosomal dominant -chr10 128800000 133797422 10q26 609625 DEL10q26, C10q26DEL Chromosome 10q26 deletion syndrome Chromosome 10q26 deletion syndrome, 609625 (4), Autosomal dominant -chr10 128800000 133797422 10q26 131200 ENDO1 Endometriosis, susceptibility to, 1 100188863 max lod at D10S587 {Endometriosis, susceptibility to, 1}, 131200 (2), Autosomal recessive, Multifactorial -chr10 128800000 133797422 10q26 609116 RRIS Respiratory rhythmicity in sleep 497662 [Respiratory rhythmicity in sleep], 609116 (2) -chr10 129467240 129770982 10q26 10q26.3 156569 MGMT Methylguanine-DNA methyltransferase MGMT 4255 ENSG00000170430 Mgmt (MGI:96977) -chr10 129835232 129964273 10q26.3 10q26.3 607407 EBF3, COE3, HADDS Early B-cell factor 3 EBF3 253738 ENSG00000108001 Hypotonia, ataxia, and delayed development syndrome, 617330 (3), Autosomal dominant Ebf3 (MGI:894289) -chr10 130136390 130182876 10q26.3 10q26.3 612754 GLRX3, PICOT Glutaredoxin 3 GLRX3 10539 ENSG00000108010 Glrx3 (MGI:1353653) -chr10 131900933 131971534 10q26.3 10q26.3 613992 PPP2R2D Protein phosphatase 2, regulatory subunit B, delta PPP2R2D 55844 ENSG00000175470 Ppp2r2d (MGI:1289252) -chr10 131967683 131981922 10q26.3 10q26.3 603293 BNIP3, NIP3 BCL2/adenovirus E1B 19-kD protein-interacting protein 3 BNIP3 664 Bnip3 (MGI:109326) -chr10 132036067 132184857 10q26.1 10q26.3 611198 JAKMIP3, C10orf39, NECC2, JAMIP3 Janus kinase and microtubule interacting protein 3 JAKMIP3 282973 ENSG00000188385 Jakmip3 (MGI:1921254) -chr10 132184982 132205758 10q25.2-q26 10q26.3 608407 DPYSL4, CRMP3, ULIP4 Dihydropyrimidinase-like 4 DPYSL4 10570 ENSG00000151640 Dpysl4 (MGI:1349764) -chr10 132537783 132783479 10q26.3 10q26.3 600106 INPP5A Inositol polyphosphate-5-phosphatase, 40kD INPP5A 3632 ENSG00000068383 Inpp5a (MGI:2686961) -chr10 132782228 132786146 10q26 10q26.3 605955 NKX6-2, NKX6B, NKX6.2, SPAX8 NK6 transcription factor related, locus 2 (Drosophila) NKX6-2 84504 ENSG00000148826 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3), Autosomal recessive Nkx6-2 (MGI:1352738) -chr10 132808391 132942569 10q26.3 10q26.3 618543 CFAP46, TTC40 Cilia- and flagella-associated protein 46 CFAP46 54777 ENSG00000171811 Cfap46 (MGI:2444387) -chr10 133087923 133131674 10q26.3 10q26.3 612302 ADGRA1, GPR123, KIAA1828 Adhesion G protein-coupled receptor A1 ADGRA1 84435 ENSG00000197177 Adgra1 (MGI:1277167) -chr10 133160218 133226411 10q26.3 10q26.3 616237 KNDC1, RASGEF2, KIAA1768 Kinase noncatalytic C-lobe domain-containing protein 1 KNDC1 85442 ENSG00000171798 Kndc1 (MGI:1923734) -chr10 133230216 133231557 10q26 10q26.3 604130 UTF1 Undifferentiated embryonic cell transcription factor 1 UTF1 8433 ENSG00000171794 Utf1 (MGI:1276125) -chr10 133237854 133241927 10q26.3 10q26.3 607158 VENTX, VENTX2, HPX42B VENT homeobox VENTX 27287 ENSG00000151650 -chr10 133262421 133276890 10q26.3 10q26.3 602267 ADAM8, CD156 ADAM metallopeptidase domain 8 ADAM8 101 ENSG00000151651 Adam8 (MGI:107825) -chr10 133278634 133312336 10q26.3 10q26.3 617817 TUBGCP2, GCP2, GRIP103, SPC97, ALP4, PAMDDFS Tubulin-gamma complex-associated protein 2 TUBGCP2 10844 ENSG00000130640 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 (3), Autosomal recessive Tubgcp2 (MGI:1921487) -chr10 133324071 133336895 10q26.3 10q26.3 604647 CALY, DRD1IP Calcyon neuron-specific vesicular protein CALY 50632 ENSG00000130643 Caly (MGI:1915816) -chr10 133347372 133352682 10q26.3 10q26.3 609776 PRAP1 Proline-rich acidic protein 1 PRAP1 118471 ENSG00000165828 Prap1 (MGI:893573) -chr10 133352772 133358030 10q26.3 10q26.3 617725 FUOM, FUCU Fucose mutarotase FUOM 282969 ENSG00000148803 Fuom (MGI:1916314) -chr10 133362479 133373395 10q26.2-q26.3 10q26.3 602292 ECHS1, SCEH, ECHS1D Enoyl-CoA hydratase, short-chain, 1, mitochondrial ECHS1 1892 ENSG00000127884 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3), Autosomal recessive Echs1 (MGI:2136460) -chr10 133379261 133391693 10q26.3 10q26.3 615853 PAOX, PAO Polyamine oxidase PAOX 196743 ENSG00000148832 Paox (MGI:1916983) -chr10 133420665 133424624 10q26.3 10q26.3 610447 SPRN, SHADOO, SHO Shadow of prion protein SPRN 503542 ENSG00000203772 Sprn (MGI:3582583) -chr10 133527362 133539122 10q24.3-qter 10q26.3 124040 CYP2E, CYP2E1, P450C2E Cytochrome P450, subfamily IIE, ethanol-inducible CYP2E1 1571 ENSG00000130649 Cyp2e1 (MGI:88607) -chr10 133553898 133568290 10q26.3 10q26.3 611486 SYCE1, POF12, SPGF15 Synaptonemal complex central element protein 1 SYCE1 93426 ENSG00000171772 mutation identified in 1 POF12 and 1 SPGF15 family ?Spermatogenic failure 15, 616950 (3), Autosomal recessive; ?Premature ovarian failure 12, 616947 (3), Autosomal recessive Syce1 (MGI:1921325) -chr11 0 53400000 11p 604499 HYPLIP2 Hyperlipidemia, combined, 2 28515 Hyperlipidemia, combined, 2, 604499 (2) -chr11 0 2800000 11p15.5 147510 IRDN, ILPR Insulin-related DNA polymorphism (insulin-related VNTR) -chr11 0 53400000 11p 600165 NNO1 Nanophthalmos 1 23691 Nanophthalmos-1, 600165 (2), Autosomal dominant -chr11 0 2800000 11p15.5 607967 SLEN3 Systemic lupus erythematosus with nephritis, susceptibility to, 3 282849 {Systemic lupus erythematosus with nephritis, susceptibility to, 3}, 607967 (2) -chr11 187880 194574 11p15.5 11p15.5 610176 SCGB1C1, RYD5 Secretoglobin, family 1C, member 1 SCGB1C1 147199 ENSG00000188076 Scgb1c1 (MGI:2655401) -chr11 196760 200257 11p15.5 11p15.5 608356 ODF3, SHIPPO1 Outer dense fiber of sperm tails 3 ODF3 113746 ENSG00000177947 Odf3 (MGI:1916537) -chr11 202923 207398 11p15.5 11p15.5 615417 BET1L, GS15 BET1-like protein BET1L 51272 ENSG00000177951 Bet1l (MGI:1913128) -chr11 207707 215112 11p15.5 11p15.5 609146 RIC8A RIC8 guanine nucleotide exchange factor A RIC8A 60626 ENSG00000177963 Ric8a (MGI:2141866) -chr11 215029 236930 11p15.5 11p15.5 604481 SIRT3, SIR2L3 Sirtuin, S. cerevisiae, homolog 3 SIRT3 23410 ENSG00000142082 Sirt3 (MGI:1927665) -chr11 236971 252983 11p15.5 11p15.5 603481 PSMD13, S11 Proteasome 26S subunit, non-ATPase, 13 PSMD13 5719 ENSG00000185627 Psmd13 (MGI:1345192) -chr11 278364 285941 11p15.5 11p15.5 609650 NALP6, PYPAF5 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 6 NLRP6 171389 ENSG00000174885 Nlrp6 (MGI:2141990) -chr11 287759 296106 11p15.5 11p15.5 617032 PGGHG, ATHL1 Protein-glucosylgalactosylhydroxylysine glucosidase PGGHG 80162 ENSG00000142102 Pgghg (MGI:2444047) -chr11 298199 299525 11p15.5 11p15.5 614757 IFITM5, OI5 Interferon-induced transmembrane protein 5 IFITM5 387733 ENSG00000206013 Osteogenesis imperfecta, type V, 610967 (3), Autosomal dominant Ifitm5 (MGI:1934923) -chr11 307815 309394 11p15.5 11p15.5 605578 IFITM2 Interferon-induced transmembrane protein 1 IFITM2 10581 ENSG00000185201 Ifitm7,Ifitm2 (MGI:1933382,MGI:1921732) -chr11 314039 315271 11p15.5 11p15.5 604456 IFITM1, IFI17, LEU13 Interferon-induced transmembrane protein 1 IFITM1 8519 ENSG00000185885 Ifitm7,Ifitm1,Ifitm3 (MGI:1921732,MGI:1913391,MGI:1915963) -chr11 319675 320859 11p15.5 11p15.5 605579 IFITM3 Interferon-induced transmembrane protein 3 IFITM3 10410 ENSG00000142089 {Influenza, severe, susceptibility to}, 614680 (3) Ifitm7,Ifitm3 (MGI:1921732,MGI:1913391) -chr11 369498 382116 11p15 11p15.5 618560 B4GALNT4 Beta-1,4-N-acetyl-galactosaminyltransferase 4 B4GALNT4 338707 ENSG00000182272 B4galnt4 (MGI:2652891) -chr11 392595 404907 11p15 11p15.5 605561 PKP3 Plakophilin-3 PKP3 11187 ENSG00000184363 Pkp3 (MGI:1891830) -chr11 405715 417453 11p15.5 11p15.5 605478 SIGIRR Single immunoglobulin domain-containing IL1R-related protein SIGIRR 59307 ENSG00000185187 Sigirr (MGI:1344402) -chr11 448214 491398 11p15.5 11p15.5 612793 PTDSS2, PSS2 Phosphatidylserine synthase 2 PTDSS2 81490 ENSG00000174915 Ptdss2 (MGI:1351664) -chr11 494511 507254 11p15.5 11p15.5 173320 RNH1, RNH Ribonuclease/angiogenin inhibitor 1 RNH1 6050 ENSG00000023191 Rnh1 (MGI:1195456) -chr11 518966 554915 11p15.5 11p15.5 618227 LRRC56, CILD39 Leucine-rich repeat-containing protein 56 LRRC56 115399 ENSG00000161328 Ciliary dyskinesia, primary, 39, 618254 (3), Autosomal recessive Lrrc56 (MGI:1917802) -chr11 532241 535575 11p15.5 11p15.5 190020 HRAS Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog HRAS 3265 ENSG00000174775 pseudogene HRASP on X Bladder cancer, somatic, 109800 (3); Thyroid carcinoma, follicular, somatic, 188470 (3); Congenital myopathy with excess of muscle spindles, 218040 (3), Autosomal dominant; Nevus sebaceous or woolly hair nevus, somatic, 162900 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); Spitz nevus or nevus spilus, somatic, 137550 (3); Costello syndrome, 218040 (3), Autosomal dominant Hras (MGI:96224) -chr11 560969 564024 11p15.5 11p15.5 143023 RASSF7, C11orf13, HRC1 Ras association domain family, member 7 RASSF7 8045 ENSG00000099849 29kb 5' to HRAS1; divergently transcribed Rassf7 (MGI:1914235) -chr11 568088 568197 11p15.5 11p15.5 612982 MIR210, MIRN210 Micro RNA 210 MIR210 406992 ENSG00000199038 Mir210 (MGI:2676886) -chr11 576445 612221 11p15.5 11p15.5 611780 PHRF1, KIAA1542 PHD and RING finger domain-containing protein 1 PHRF1 57661 ENSG00000070047 Phrf1 (MGI:2141847) -chr11 612554 615998 11p15.5 11p15.5 605047 IRF7, IRF7A, IRF7B, IRF7C, IRF7H, IMD39 Interferon regulatory factor 7 IRF7 3665 ENSG00000185507 mutation identified in 1 family ?Immunodeficiency 39, 616345 (3), Autosomal recessive Irf7 (MGI:1859212) -chr11 616582 624966 11p15.5 11p15.5 606839 CDHR5, MUCDHL Cadherin-related family, member 5 CDHR5 53841 ENSG00000099834 Cdhr5 (MGI:1919290) -chr11 626094 627691 11p15.5 11p15.5 182099 SCT Secretin SCT 6343 ENSG00000070031 Sct (MGI:99466) -chr11 637268 640705 11p15.5 11p15.5 126452 DRD4 Dopamine receptor D4 DRD4 1815 ENSG00000069696 proximal to HRAS {Attention deficit-hyperactivity disorder}, 143465 (3), Autosomal dominant; Autonomic nervous system dysfunction (3) Drd4 (MGI:94926) -chr11 644219 707082 11p15.5 11p15.5 602635 DEAF1, SPN, ZMYND5, VSVS, NEDHELS DEAF1 transcription factor DEAF1 10522 ENSG00000177030 Vulto-van Silfout-de Vries syndrome, 615828 (3), Autosomal dominant; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, 617171 (3), Autosomal recessive Deaf1 (MGI:1858496) -chr11 706201 727726 11p15 11p15.5 614988 EPS8L2, EPS8R2, DFNB106 EPS8-like protein 2 EPS8L2 64787 ENSG00000177106 Deafness autosomal recessive 106, 617637 (3), Autosomal recessive Eps8l2 (MGI:2138828) -chr11 747463 765011 11p15.5-p15.4 11p15.5 602063 TALDO1 Transaldolase-1 TALDO1 6888 ENSG00000177156 pseudogene on chr.1 Transaldolase deficiency, 606003 (3), Autosomal recessive Taldo1 (MGI:1274789) -chr11 787114 790089 11p15.5 11p15.5 608213 CEND1, BM88 Cell cycle exit and neuronal differentiation 1 CEND1 51286 ENSG00000184524 Cend1 (MGI:1929898) -chr11 790474 798280 11p15.5 11p15.5 609302 SLC25A22, GC1, DEE3 Solute carrier family 25 (mitochondrial carrier, glutamate), member 22 SLC25A22 79751 ENSG00000177542 Developmental and epileptic encephalopathy 3, 609304 (3), Autosomal recessive Slc25a22 (MGI:1915517) -chr11 799178 809866 11p15.5 11p15.5 605247 PIDD1, LRDD p53-induced death domain protein 1 PIDD1 55367 ENSG00000177595 Pidd1 (MGI:1889507) -chr11 809966 812875 11p15.5 11p15.5 180530 RPLP2 Ribosomal phosphoprotein, large, P2 RPLP2 6181 ENSG00000177600 Rplp2 (MGI:1914436) -chr11 818913 825572 11p15.5 11p15.5 609059 PNPLA2, TTS2, ATGL Patatin-like phospholipase domain-containing protein 2 PNPLA2 57104 ENSG00000177666 Neutral lipid storage disease with myopathy, 610717 (3), Autosomal recessive Pnpla2 (MGI:1914103) -chr11 825557 831990 11p15.5 11p15.5 614177 EFCAB4A, CRACR2B EF-hand calcium-binding domain-containing protein 4A CRACR2B 283229 ENSG00000177685 Cracr2b (MGI:2446129) -chr11 832951 838834 11p15.5 11p15.5 602243 CD151, PETA3, SFA1, MER2 CD151 antigen CD151 977 ENSG00000177697 [Blood group, Raph], 179620 (3); Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3) Cd151 (MGI:1096360) -chr11 839720 842528 11p15 11p15.5 601189 POLR2L, RPB10 Polymerase II, RNA, subunit L POLR2L 5441 ENSG00000177700 Polr2l (MGI:1913741) -chr11 842851 867115 11p15.5 11p15.5 602644 TSPAN4, TM4SF7, NAG2 Tetraspanin 4 TSPAN4 7106 ENSG00000214063 Tspan4 (MGI:1928097) -chr11 867858 914844 11p15.5 11p15.5 615692 CHID1, SICLP Chitinase domain-containing protein 1 CHID1 66005 ENSG00000177830 Chid1 (MGI:1915288) -chr11 925849 1012239 11p15.5 11p15.5 607242 AP2A2, KIAA0899 Adaptor-related protein complex 2, alpha-2 subunit AP2A2 161 ENSG00000183020 Ap2a2 (MGI:101920) -chr11 1012822 1036717 11p15.5-p15.4 11p15.5 158374 MUC6 Mucin 6, gastric MUC6 4588 ENSG00000184956 order: tel-HRAS-MUC6-MUC2-MUC5AC-MUC5B-IGF2-cen Muc6 (MGI:2663233) -chr11 1074874 1110507 11p15.5 11p15.5 158370 MUC2 Mucin 2, intestinal/tracheal MUC2 4583 ENSG00000198788 Muc2 (MGI:1339364) -chr11 1157952 1201137 11p15.5 11p15.5 158373 MUC5AC, MUC5 Mucin 5, subtypes A and C, tracheobronchial/gastric MUC5AC 4586 ENSG00000215182 Muc5ac (MGI:104697) -chr11 1223065 1262171 11p15 11p15.5 600770 MUC5B Mucin 5, subtype B, tracheobronchial MUC5B 727897 ENSG00000117983 {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3), Autosomal dominant Muc5b (MGI:1921430) -chr11 1274370 1309631 11p15.5 11p15.5 606277 TOLLIP Toll-interacting protein TOLLIP 54472 ENSG00000078902 Tollip (MGI:1891808) -chr11 1389933 1462688 11p15.5 11p15.5 609236 BRSK2, SAD1, PEN11B BR serine/threonine kinase 2 BRSK2 9024 ENSG00000174672 Brsk2 (MGI:1923020) -chr11 1469447 1486778 11p15.5 11p15.5 611969 MOB2, HCCA2 MOB kinase activator 2 MOB2 81532 ENSG00000182208 Mob2 (MGI:1919891) -chr11 1554050 1572838 11p15.5 11p15.5 602038 DUSP8, HVH8 Dual specificity phosphatase-8 DUSP8 1850 ENSG00000184545 pseudogene on 10q11.2 Dusp8 (MGI:106626) -chr11 1584341 1585282 11p15.5 11p15.5 148022 KRTAP5-1, KRN1L Keratin associated protein 5-1 KRTAP5-1 387264 ENSG00000205869 -chr11 1732405 1750594 11p15.5 11p15.5 618293 IFITM10, DSPA3 Interferon-induced transmembrane protein 10 IFITM10 402778 ENSG00000244242 Ifitm10 (MGI:2444776) -chr11 1752754 1763926 11p15.5 11p15.5 116840 CTSD, CPSD, CLN10 Cathepsin D (lysosomal aspartyl protease) CTSD 1509 ENSG00000117984 Ceroid lipofuscinosis, neuronal, 10, 610127 (3), Autosomal recessive Ctsd (MGI:88562) -chr11 1827483 1837520 11p15.5 11p15.5 607719 SYT8 Synaptotagmin 8 SYT8 90019 ENSG00000149043 Syt8 (MGI:1859867) -chr11 1838980 1841677 11p15.5 11p15.5 191043 TNNI2, AMCD2B, DA2B1, FSSV Troponin I, fast-twitch skeletal muscle isoform TNNI2 7136 ENSG00000130598 Arthrogryposis, distal, type 2B1, 601680 (3), Autosomal dominant Tnni2 (MGI:105070) -chr11 1853083 1892262 11p15.5 11p15.5 153432 LSP1 Lymphocyte-specific protein pp52 LSP1 4046 ENSG00000130592 Lsp1 (MGI:96832) -chr11 1919550 1938703 11p15.5 11p15.5 600692 TNNT3, AMCD2B, DA2B2, FSSV Troponin-T3, skeletal, fast TNNT3 7140 ENSG00000130595 Arthrogryposis, distal, type 2B2, 618435 (3), Autosomal dominant Tnnt3 (MGI:109550) -chr11 1947271 2013175 11p15.5 11p15.5 600789 RPL23L, L23MRP, MRPL23 Ribosomal protein L23-like (L23 mitochondrial-related protein) MRPL23 6150 ENSG00000214026 Mrpl23 (MGI:1196612) -chr11 1995175 2001465 11p15.5 11p15.5 103280 H19, D11S813E, ASM1 H19 gene H19 283120 ENSG00000130600 same 200kb fragment as IGF2 -chr11 1996758 1996830 11p15.5 11p15.5 615509 MIR675 Micro RNA 675 MIR675 100033819 ENSG00000284010 Mir675 (MGI:3629709) -chr11 1998744 2003508 11p15.5 11p15.5 616186 ICR1, BWS, WT2, SRS1 H19-IGF2-imprinting control region 105259599 Wilms tumor 2, 194071 (3), Somatic mutation, Autosomal dominant; Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant; Silver-Russell syndrome 1, 180860 (3), Autosomal dominant -chr11 2129116 2149565 11p15.5 11p15.5 147470 IGF2, GRDF, SRS3 Insulin-like growth factor-2, or somatomedin A IGF2 3481 ENSG00000167244 mutation identified in 1 GRDF family Silver-Russell syndrome 3, 616489 (3), Autosomal dominant Igf2 (MGI:96434) -chr11 2140511 2148665 11p15.5 11p15.5 610146 IGF2AS, PEG8 Insulin-like growth factor II, antisense IGF2-AS 51214 ENSG00000099869 Igf2os (MGI:1195257) -chr11 2159778 2161208 11p15.5 11p15.5 176730 INS, MODY10, IDDM2, PNDM4 Insulin INS 3630 ENSG00000254647 5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH Diabetes mellitus, insulin-dependent, 2, 125852 (3), Autosomal dominant; Maturity-onset diabetes of the young, type 10, 613370 (3), Autosomal dominant; Hyperproinsulinemia, 616214 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal 4, 618858 (3), Autosomal dominant, Autosomal recessive Ins1,Ins2 (MGI:96573,MGI:96572) -chr11 2163928 2174080 11p15.5 11p15.5 191290 TH, TYH Tyrosine hydroxylase TH 7054 ENSG00000180176 distal to HRAS1 Segawa syndrome, recessive, 605407 (3), Autosomal recessive Th (MGI:98735) -chr11 2268497 2270587 11p15.5 11p15.5 601886 ASCL2 Achaete-scute complex, Drosophila, homolog-like 2 ASCL2 430 ENSG00000183734 Ascl2 (MGI:96920) -chr11 2295627 2303139 11p15.5 11p15.5 611033 C11orf21 Chromosome 11 open reading frame 21 C11orf21 29125 ENSG00000110665 -chr11 2299479 2318203 11p15.5 11p15.5 603853 TSPAN32, PHEMX, TSSC6 Tetraspanin 32 TSPAN32 10077 ENSG00000064201 not imprinted Tspan32 (MGI:1350360) -chr11 2376179 2397401 11p 11p15.5 186845 CD81, TAPA1, CVID6 CD81 antigen (target of antiproliferative antibody-1) CD81 975 ENSG00000110651 Immunodeficiency, common variable, 6, 613496 (3), Autosomal recessive Cd81 (MGI:1096398) -chr11 2398411 2403877 11p15.5 11p15.5 603852 TSSC4 Tumor-suppressing subchromosomal transferable fragment cDNA 4 TSSC4 10078 ENSG00000184281 not imprinted Tssc4 (MGI:1861712) -chr11 2403961 2423423 11p15.5 11p15.5 604600 TRPM5, MTR1 Transient receptor potential cation channel, subfamily M, member 5 (MLSN1- and TRP-related gene 1) TRPM5 29850 ENSG00000070985 maternal allele imprinted Trpm5 (MGI:1861718) -chr11 2445007 2849109 11p15.5 11p15.5-p15.4 607542 KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2 Potassium voltage-gated channel, KQT-like subfamily, member 1 KCNQ1 3784 ENSG00000053918 Short QT syndrome 2, 609621 (3), Autosomal dominant; Atrial fibrillation, familial, 3, 607554 (3), Autosomal dominant; Long QT syndrome 1, 192500 (3), Autosomal dominant; {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3), Autosomal dominant; Jervell and Lange-Nielsen syndrome, 220400 (3), Autosomal recessive Kcnq1 (MGI:108083) -chr11 2608327 2699997 11p15.5 11p15.5 604115 KCNQ1OT1, LIT1 KCNQ1-overlapping transcript 1 KCNQ1OT1 10984 ENSG00000269821 Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant Kcnq1ot1 (MGI:1926855) -chr11 2800000 11700000 11p15.4 616121 GVINP1, VLIG1 GTPase, very large interferon-inducible, pseudogene 1 GVINP1 387751 ENSG00000254838 -chr11 2870032 2872104 11p15.5 11p15.4 610980 KCNQ1DN KCNQ1 downstream neighbor KCNQ1DN 55539 ENSG00000237941 -chr11 2883217 2885774 11p15.5 11p15.4 600856 CDKN1C, KIP2, BWS, IMAGE Cyclin-dependent kinase inhibitor 1C (p57, Kip2) CDKN1C 1028 ENSG00000129757 rare cause of BWS IMAGE syndrome, 614732 (3), Autosomal dominant; Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant Cdkn1c (MGI:104564) -chr11 2887343 2903574 11p15.5 11p15.4 603240 SLC22A1LS, ORCTL2S, BWSCR1B Solute carrier family 22, member 1-like-antisense SLC22A18AS 5003 ENSG00000254827 -chr11 2899690 2925245 11p15.5 11p15.4 602631 SLC22A1L, BWSCR1A, IMPT1 Solute carrier family 22, member 1-like (Beckwith-Wiedemann region 1A; organic-cation transporter-like 2) SLC22A18 5002 ENSG00000110628 Breast cancer, somatic, 114480 (3); Lung cancer, somatic, 211980 (3); Rhabdomyosarcoma, somatic, 268210 (3) Slc22a18 (MGI:1336884) -chr11 2928272 2929419 11p15.5 11p15.4 602131 PHLDA2, TSSC3, IPL, BRW1C Pleckstrin homology-like domain, family A, member 2 PHLDA2 7262 ENSG00000181649 Phlda2 (MGI:1202307) -chr11 2944436 2992328 11p15.5 11p15.4 601651 NAP1L4, NAP2L, NAP2 Nucleosome assembly protein 1-like 4 NAP1L4 4676 ENSG00000205531 Nap1l4 (MGI:1316687) -chr11 3000928 3057422 11p15.5 11p15.4 123859 CARS1, CARS, MDBH Cysteinyl-tRNA synthetase 1 CARS1 833 ENSG00000110619 Microcephaly, developmental delay, and brittle hair syndrome, 618891 (3), Autosomal recessive Cars (MGI:1351477) -chr11 3087106 3165309 11p15.4 11p15.4 606733 OSBPL5, ORP5, KIAA1534 Oxysterol-binding protein-like protein 5 OSBPL5 114879 ENSG00000021762 Osbpl5 (MGI:1930265) -chr11 3217943 3218812 11p15.5 11p15.4 607234 MRGPRG, MRGG MAS-related G protein-coupled receptor family, member G MRGPRG 386746 ENSG00000182170 Mrgprg (MGI:3033145) -chr11 3225029 3232416 11p15.4 11p15.4 607232 MRGPRE, MRGE Mas-related G protein-coupled receptor family, member E MRGPRE 116534 ENSG00000184350 Mrgpre (MGI:2441884) -chr11 3357926 3379145 11p15.5 11p15.4 602187 ZNF195 Zinc finger protein-195 ZNF195 7748 ENSG00000005801 Zfp87,Zfp493 (MGI:107768,MGI:1920208) -chr11 3380960 3409147 11p15.5 11p15.4 608999 TSSC2 Tumor-suppressing subtransferable fragment candidate gene 2 TSSC2 650368 ENSG00000223756 -chr11 3638502 3642391 11p15 11p15.4 610625 ART5 ADP-ribosyltransferase 5 ART5 116969 ENSG00000167311 Art5 (MGI:107948) -chr11 3645109 3665515 11p15 11p15.4 601625 ART1 ADP-ribosyltransferase 1 ART1 417 ENSG00000129744 Art1 (MGI:107511) -chr11 3665586 3673628 11p15.5 11p15.4 606372 CHRNA10 Cholinergic receptor, neuronal nicotinic, alpha polypeptide 10 CHRNA10 57053 ENSG00000129749 Chrna10 (MGI:3609260) -chr11 3675009 3797553 11p15 11p15.4 601021 NUP98 Nucleoporin, 98kD NUP98 4928 ENSG00000110713 fused with HOXA9, NSD1, NSD3, PMX1, HOXC13, DDX10, TOP1, HOXD11 in myeloid leukemia Nup98 (MGI:109404) -chr11 3797723 3826370 11p15.5 11p15.4 615187 PGAP2, FRAG1, HPMRS3, MRT17, MRT21 Post-GPI attachment to proteins 2 PGAP2 27315 ENSG00000148985 Hyperphosphatasia with mental retardation syndrome 3, 614207 (3), Autosomal recessive Pgap2 (MGI:2385286) -chr11 3826977 3840958 11p15.5-p15.4 11p15.4 179505 ARHG ras homolog gene family, member G (rho G) RHOG 391 ENSG00000177105 Rhog (MGI:1928370) -chr11 3854603 4093209 11p15.5 11p15.4 605921 STIM1, TAM1, IMD10, STRMK Stromal interaction molecule 1 STIM1 6786 ENSG00000167323 Myopathy, tubular aggregate, 1, 160565 (3), Autosomal dominant; Stormorken syndrome, 185070 (3), Autosomal dominant; Immunodeficiency 10, 612783 (3), Autosomal recessive Stim1 (MGI:107476) -chr11 4094684 4138931 11p15.5 11p15.4 180410 RRM1 Ribonucleotide reductase, M1 polypeptide RRM1 6240 ENSG00000167325 Rrm1 (MGI:98180) -chr11 4384896 4393701 11p15.5 11p15.4 109092 TRIM21, SSA1, RO52 Tripartite motif-containing protein 21 TRIM21 6737 ENSG00000132109 Trim21 (MGI:106657) -chr11 4598671 4608230 11p15.4 11p15.4 613184 TRIM68, SS56, GC109 Tripartite motif-containing protein 68 TRIM68 55128 ENSG00000167333 incorrectly assigned to 2p24 by FISH Trim68 (MGI:2142077) -chr11 4643981 4655487 11p15.4 11p15.4 611267 OR51E1, DGPCR, PSGR2 Olfactory receptor, family 51, subfamily E, member 1 OR51E1 143503 ENSG00000180785 Olfr558 (MGI:3030392) -chr11 4680170 4697852 11p15.4 11p15.4 611268 OR51E2, PSGR Olfactory receptor, family 51, subfamily E, member 2 OR51E2 81285 ENSG00000167332 Olfr78 (MGI:2157548) -chr11 4704783 4992428 11p15 11p15.4 605470 MMP26 Matrix metalloproteinase 26 (matrilysin 2) MMP26 56547 ENSG00000167346 -chr11 5225463 5227070 11p15.5 11p15.4 141900 HBB, ECYT6 Hemoglobin beta HBB 3043 ENSG00000244734 pseudogene HBBP1 between HBG and HBD loci Methemoglobinemia, beta type, 617971 (3), Autosomal dominant; Thalassemia-beta, dominant inclusion-body, 603902 (3), Autosomal dominant; Sickle cell anemia, 603903 (3), Autosomal recessive; Thalassemia, beta, 613985 (3); Delta-beta thalassemia, 141749 (3), Autosomal dominant; {Malaria, resistance to}, 611162 (3); Hereditary persistence of fetal hemoglobin, 141749 (3), Autosomal dominant; Heinz body anemia, 140700 (3), Autosomal dominant; Erythrocytosis 6, 617980 (3), Autosomal dominant Hbb-bh2,Hbb-bt,Hbb-b2,Hbb-b1 (MGI:96021,MGI:5474850,MGI:96022,MGI:96025) -chr11 5232837 5234482 11p15.5 11p15.4 142000 HBD Hemoglobin delta HBD 3045 ENSG00000223609 Thalassemia due to Hb Lepore (3); Thalassemia, delta- (3) Hbb-bh2,Hbb-bt,Hbb-b2,Hbb-b1 (MGI:96021,MGI:5474850,MGI:96022,MGI:96025) -chr11 5244553 5245545 11p15.4 11p15.4 616308 BGLT3, LINC01083 Beta-globin locus transcript 3, noncoding BGLT3 103344929 ENSG00000260629 -chr11 5248268 5249856 11p15.5 11p15.4 142200 HBG1 Hemoglobin, gamma A HBG1 3047 ENSG00000213934 Fetal hemoglobin quantitative trait locus 1, 141749 (3), Autosomal dominant Hbb-bh1 (MGI:96024) -chr11 5253187 5254780 11p15.5 11p15.4 142250 HBG2, TNCY Hemoglobin, gamma G HBG2 3048 ENSG00000196565 Fetal hemoglobin quantitative trait locus 1, 141749 (3), Autosomal dominant; Cyanosis, transient neonatal, 613977 (3), Autosomal dominant Hbb-bh1 (MGI:96024) -chr11 5268344 5269944 11p15.5 11p15.4 142100 HBE1 Hemoglobin epsilon HBE1 3046 ENSG00000213931 Hbb-y (MGI:96027) -chr11 5269924 5304185 11p15.5 11p15.4 152424 LCRB Locus control region beta 109580095 Thalassemia, Hispanic gamma-delta-beta, 613985 (3) -chr11 5507299 5509956 11p15 11p15.4 605473 UBQLN3 Ubiquilin 3 UBQLN3 50613 ENSG00000175520 Ubqln3 (MGI:3045291) -chr11 5590905 5685107 11p15 11p15.4 608487 TRIM5, RNF88 Tripartite motif-containing protein 5 TRIM5 85363 ENSG00000132256 Trim12a,Trim5,Trim30d,Trim12c,Trim30a (MGI:4821183,MGI:3035181,MGI:1923931,MGI:98178,MGI:3646853) -chr11 5596110 5612951 11p15 11p15.4 607564 TRIM6 Tripartite motif-containing protein 6 TRIM6 117854 ENSG00000121236 Trim6 (MGI:2137352) -chr11 5619943 5644397 11p15.4-p15.3 11p15.4 605684 TRIM34, RNF21, IFP1 Tripartite motif-containing 34 (RING finger protein-21) TRIM34 53840 ENSG00000258659 Trim34a (MGI:2137359) -chr11 5689789 5710862 11p15 11p15.4 606559 TRIM22, STAF50 Tripartite motif-containing protein 22 TRIM22 10346 ENSG00000132274 -chr11 6234712 6245923 11p15.4 11p15.4 609472 CNGA4 Cyclic nucleotide-gated channel, alpha-4 CNGA4 1262 ENSG00000132259 Cnga4 (MGI:2664099) -chr11 6259837 6272126 11p15.5-p15.4 11p15.4 118445 CCKBR, GASR Cholecystokinin B receptor CCKBR 887 ENSG00000110148 Cckbr (MGI:99479) -chr11 6318945 6320500 11p15.4 11p15.4 618303 CAVIN3, SRBC Caveolae-associated protein 3 CAVIN3 112464 ENSG00000170955 Cavin3 (MGI:1923422) -chr11 6390473 6394997 11p15.4-p15.1 11p15.4 607608 SMPD1, NPD Sphingomyelin phosphodiesterase-1, acid lysosomal SMPD1 6609 ENSG00000166311 Niemann-Pick disease, type B, 607616 (3), Autosomal recessive; Niemann-Pick disease, type A, 257200 (3), Autosomal recessive Smpd1 (MGI:98325) -chr11 6395123 6419452 11p15 11p15.4 602709 APBB1, FE65 Amyloid beta A4 precursor protein-binding, family B, member-1 APBB1 322 ENSG00000166313 Apbb1 (MGI:107765) -chr11 6431048 6440986 11p15.5-p15.4 11p15.4 142290 HPX Hemopexin HPX 3263 ENSG00000110169 Hpx (MGI:105112) -chr11 6448612 6474458 11p15.4 11p15.4 605493 TRIM3, RNF22, BERP Tripartite motif-containing 3 TRIM3 10612 ENSG00000110171 Trim3 (MGI:1860040) -chr11 6476518 6481330 11p15.4 11p15.4 601638 ARFIP2, POR1 ADP-ribosylation factor-interacting protein 2 ARFIP2 23647 ENSG00000132254 Arfip2 (MGI:1924182) -chr11 6481500 6484680 11p15.5-p15.2 11p15.4 607388 FXC1, TIMM10B Fracture callus 1, rat, homolog of TIMM10B 26515 ENSG00000132286 Timm10b (MGI:1315196) -chr11 6497279 6572019 11p15.4 11p15.4 617277 DHND1, FLJ00251 Dynein heavy chain domain 1 DNHD1 144132 ENSG00000179532 Dnhd1 (MGI:1924755) -chr11 6514829 6603677 11p15.4 11p15.4 615818 RRP8, NML, KIAA0409 Ribosomal RNA processing protein 8, homolog of RRP8 23378 ENSG00000132275 Rrp8 (MGI:1914251) -chr11 6603747 6610872 11p15.5-p15.4 11p15.4 602366 ILK, P59 Integrin-linked kinase ILK 3611 ENSG00000166333 Ilk (MGI:1195267) -chr11 6606293 6612215 11p15.3 11p15.4 600475 TAF10, TAF2H, TAF2A TAF10 RNA polymerase II, TATA box-binding protein-associated factor, 30kD TAF10 6881 ENSG00000166337 Taf10 (MGI:1346320) -chr11 6612767 6619421 11p15.5 11p15.4 607998 TPP1, CLN2, SCAR7 Tripeptidyl peptidase 1 TPP1 1200 ENSG00000166340 Ceroid lipofuscinosis, neuronal, 2, 204500 (3), Autosomal recessive; Spinocerebellar ataxia, autosomal recessive 7, 609270 (3), Autosomal recessive Tpp1 (MGI:1336194) -chr11 6621329 6655808 11p15.4 11p15.4 603057 DCHS1, PCDH16, FIB1, CDH19, VMLDS1, MVP2 Dachsous, Drosophila, homolog of, 1 DCHS1 8642 ENSG00000166341 Mitral valve prolapse 2, 607829 (3), Autosomal dominant; Van Maldergem syndrome 1, 601390 (3), Autosomal recessive Dchs1 (MGI:2685011) -chr11 6680384 6683339 11p15.5-p15.4 11p15.4 611830 MRPL17 Mitochondrial ribosomal protein L17 MRPL17 63875 ENSG00000158042 Mrpl17 (MGI:1351608) -chr11 6791735 6799688 11p15 11p15.4 608495 OR6A2, OR6A1 Olfactory receptor, family 6, subfamily A, member 2 OR6A2 8590 ENSG00000184933 Olfr2 (MGI:97432) -chr11 6845682 6846635 11p15.4 11p15.4 608493 OR10A1 Olfactory receptor, family 10, subfamily A, member 1 OR10A5 144124 ENSG00000166363 Olfr714,Olfr713 (MGI:3030547,MGI:3030548) -chr11 6891573 6892499 11p15.4 11p15.4 608494 OR2D2 Olfactory receptor, family 2, subfamily D, member 2 OR2D2 120776 ENSG00000166368 Olfr715,Olfr715b (MGI:3647188,MGI:3030549) -chr11 6926425 6991143 11p15.4 11p15.4 605016 ZNF215 Zinc finger protein-215 ZNF215 7762 ENSG00000149054 -chr11 6993481 7020366 11p15.4 11p15.4 605015 ZNF214 Zinc finger protein-214 ZNF214 7761 ENSG00000149050 -chr11 7020445 7089024 11p15.4 11p15.4 609665 NLRP1, NALP14, NOD5 NLR family, pyrin domain containing 1 NLRP14 338323 ENSG00000158077 Nlrp14 (MGI:1924108) -chr11 7088997 7091147 11p15 11p15.4 605444 RBMXL2, HNRNPGT, HNRPGT RNA-binding motif protein, X chromosome, like 2 RBMXL2 27288 ENSG00000170748 Rbmxl2 (MGI:1923822) -chr11 7238783 7470031 11p15.4 11p15.4 613528 SYT9 Synaptotagmin 9 SYT9 143425 ENSG00000170743 Syt9 (MGI:1926373) -chr11 7513936 7666641 11p15.4 11p15.4 603142 PPFIB2 Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting protein-binding protein 2 PPFIBP2 8495 ENSG00000166387 Ppfibp2 (MGI:894649) -chr11 7665094 7678568 11p15.4 11p15.4 608342 CYB5R2 Cytochrome b5 reductase 2 CYB5R2 51700 ENSG00000166394 Cyb5r2 (MGI:2444415) -chr11 7678622 7706893 11p15.4 11p15.4 618962 OVCH2 Ovochymase 2 OVCH2 341277 ENSG00000183378 Ovch2 (MGI:3045251) -chr11 7957536 7965446 11p15 11p15.4 609662 NLRP10, NALP10, PYNOD, NOD8 NLR family, pyrin domain containing 10 NLRP10 338322 ENSG00000182261 Nlrp10 (MGI:2444084) -chr11 7987336 8001851 11p15.4 11p15.4 603914 EIF3F, EIF3S5, MRT67 Eukaryotic translation initiation factor 3, subunit F EIF3F 8665 ENSG00000175390 Mental retardation, autosomal recessive 67, 618295 (3), Autosomal recessive Eif3f (MGI:1913335) -chr11 8019179 8106242 11p15.4 11p15.4 601197 TUB, RDOB Tubby, mouse, homolog of TUB 7275 ENSG00000166402 mutation identified in 1 RDOB family ?Retinal dystrophy and obesity, 616188 (3), Autosomal recessive Tub (MGI:2651573) -chr11 8092964 8169039 11p15.4 11p15.4 610509 RIC3 RIC3 acetylcholine receptor chaperone RIC3 79608 ENSG00000166405 Ric3 (MGI:2443887) -chr11 8224303 8268786 11p15 11p15.4 186921 LMO1, RBTN1, RHOM1 LIM domain only 1 (rhombotin 1) LMO1 4004 ENSG00000166407 Leukemia, T-cell acute lymphoblastic, 186921 (2) Lmo1 (MGI:102812) -chr11 8335028 8594227 11p15.3 11p15.4 607670 STK33 Serine/threonine protein kinase 33 STK33 65975 ENSG00000130413 Stk33 (MGI:2152419) -chr11 8612039 8683230 11p15.4 11p15.4 612000 TRIM66, TIF1D, KIAA0298 Tripartite motif-containing protein 66 TRIM66 9866 ENSG00000166436 Trim66 (MGI:2152406) -chr11 8682791 8689871 11p15 11p15.4 603637 RPL27A Ribosomal protein L27a RPL27A 6157 ENSG00000166441 Gm7536,Rpl27a (MGI:1347076,MGI:3645137) -chr11 8685438 8685568 11p15.4 11p15.4 611333 SNORA3B, SNORA45 Small nucleolar RNA, H/ACA box 3B SNORA3B 677826 ENSG00000212607 -chr11 8693351 8910950 11p15 11p15.4 140750 ST5, HTS1 Suppression of tumorigenicity-5 DENND2B 6764 ENSG00000166444 Denn2b (MGI:108517) -chr11 8911116 8920078 11p15.3 11p15.4 609191 AKIP1, BCA3, C11orf17 Protein kinase A-interacting protein 1 AKIP1 56672 ENSG00000166452 Akip1 (MGI:3041226) -chr11 8980575 9004650 11p15.3 11p15.4 613125 NRIP3 Nuclear receptor-interacting protein 3 NRIP3 56675 ENSG00000175352 Nrip3 (MGI:1925843) -chr11 9019475 9091598 11p15.4 11p15.4 611747 SCUBE2 Signal peptide-, CUB domain-, and EGF-like domains-containing protein 2 SCUBE2 57758 ENSG00000175356 Scube2 (MGI:1928765) -chr11 9138824 9265349 11p15.4 11p15.4 617278 DENND5A, RAB6IP1, KIAA1091, DEE49 DENN domain-containing protein 5A DENND5A 23258 ENSG00000184014 Developmental and epileptic encephalopathy 49, 617281 (3), Autosomal recessive Dennd5a (MGI:1201681) -chr11 9384651 9448126 Chr.11 11p15.4 605586 IPO7, RANBP7 Importin 7 IPO7 10527 ENSG00000205339 Ipo7 (MGI:2152414) -chr11 9460981 9528523 11p15.4-p15.3 11p15.4 603433 ZNF143, SBF Zinc finger protein-143 ZNF143 7702 ENSG00000166478 Zfp143 (MGI:1277969) -chr11 9573669 9589984 11p15.3-p15.1 11p15.4 193525 WEE1 WEE1 G2 checkpoint kinase WEE1 7465 ENSG00000166483 Wee1 (MGI:103075) -chr11 9664076 9752992 11p15 11p15.4 604762 SWAP70 Switch-associated protein 70 SWAP70 23075 ENSG00000133789 Swap70 (MGI:1298390) -chr11 9778667 10294218 11p15 11p15.4 607697 SBF2, MTMR13, CMT4B2 SET binding factor 2 (myotubularin-related 13) SBF2 81846 ENSG00000133812 Charcot-Marie-Tooth disease, type 4B2, 604563 (3), Autosomal recessive Sbf2 (MGI:1921831) -chr11 10305072 10307396 11p15.4 11p15.4 103275 ADM Adrenomedullin ADM 133 ENSG00000148926 Adm (MGI:108058) -chr11 10450387 10507578 11pter-p13 11p15.4 102772 AMPD3 Adenosine monophosphate deaminase-3, isoform E AMPD3 272 ENSG00000133805 [AMP deaminase deficiency, erythrocytic], 612874 (3), Autosomal recessive Ampd3 (MGI:1096344) -chr11 10511672 10541186 11p15 11p15.4 616641 RNF141, ZNF230 RING finger protein 141 RNF141 50862 ENSG00000110315 Rnf141 (MGI:1914400) -chr11 10556965 10568664 Chr.11 11p15.4 605702 LYVE1 Lymphatic vessel endothelial hyaluronan receptor 1 LYVE1 10894 ENSG00000133800 Lyve1 (MGI:2136348) -chr11 10573094 10693754 11p15.4-p15.3 11p15.4 604673 MRVI1, IRAG Murine retrovirus integration site 1, homolog of IRAG1 10335 ENSG00000072952 Irag1 (MGI:1338023) -chr11 10751245 10779745 11p15.3 11p15.4 609366 SH2BP1, KIAA0155, p150 SH2 domain-binding protein 1 CTR9 9646 ENSG00000198730 Ctr9 (MGI:109345) -chr11 10797045 10808925 11p15 11p15.4 602325 EIF4G2, DAP5 Eukaryotic translation initiation factor 4G-like 1 EIF4G2 1982 ENSG00000110321 Eif4g2 (MGI:109207) -chr11 10852705 10858052 11p15.3 11p15.4 615251 ZBED5, BUSTER1 Zinc finger BED domain-containing protein 5 ZBED5 58486 ENSG00000236287 Zbed5 (MGI:1919220) -chr11 11270876 11622004 11p15.3 11p15.4 615136 GALNT18, GALNACT18, GALNTL4 UPD-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 GALNT18 374378 ENSG00000110328 Galnt18 (MGI:2446239) -chr11 11841971 11961886 11p15.3 11p15.3 614460 USP47 Ubiquitin-specific protease 47 USP47 55031 ENSG00000170242 Usp47 (MGI:1922246) -chr11 11963035 12009826 11p15.1 11p15.3 605416 DKK3, RIG Dickkopf WNT signaling pathway inhibitor 3 DKK3 27122 ENSG00000050165 Dkk3 (MGI:1354952) -chr11 12110589 12362139 11p15.3 11p15.3 608881 MICAL2, KIAA0750, EBITEIN1 Microtubule-associated monooxygenase, calponin and LIM domains-containing 2 MICAL2 9645 ENSG00000133816 Mical2 (MGI:2444947) -chr11 12376440 12535355 11p15 11p15.3 608120 PARVA Parvin, alpha PARVA 55742 ENSG00000197702 Parva (MGI:1931144) -chr11 12674420 12944736 11p15.2 11p15.3 189967 TEAD1, TCF13, REF1 TEA domain family member 1 TEAD1 7003 ENSG00000187079 Sveinsson chorioretinal atrophy, 108985 (3), Autosomal dominant Tead1 (MGI:101876) -chr11 12979533 12989547 11p15.3 11p15.3 618335 LINC00958, BLACAT2 Long intergenic noncoding RNA 958 LINC00958 100506305 ENSG00000251381 -chr11 13009315 13012118 11p15.2 11p15.3 614713 RASSF10 Ras association domain family, member 10 RASSF10 644943 ENSG00000189431 Rassf10 (MGI:1925998) -chr11 13276551 13387267 11p15 11p15.3 602550 ARNTL, BMAL1, TIC Aryl hydrocarbon receptor nuclear translocator-like ARNTL 406 ENSG00000133794 Arntl (MGI:1096381) -chr11 13388007 13463291 11p15.2 11p15.3 615933 BTBD10 BTB/POZ domain-containing protein 10 BTBD10 84280 ENSG00000148925 Btbd10 (MGI:1916065) -chr11 13492053 13496180 11p15.3-p15.1 11p15.3 168450 PTH, FIH1 Parathyroid hormone PTH 5741 ENSG00000152266 ~9cM distal to CALC1; distal to MYOD Hypoparathyroidism, familial isolated 1, 146200 (3), Autosomal dominant, Autosomal recessive Pth (MGI:97799) -chr11 13668665 13732345 11p15.2 11p15.3 616107 FAR1, MLSTD2, PFCRD, CSPSD Fatty acyl CoA reductase 1 FAR1 84188 ENSG00000197601 Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3), Autosomal recessive; Cataracts, spastic paraparesis, and speech delay, 619338 (3), Autosomal dominant Far1 (MGI:1914670) -chr11 13962722 14268132 Chr.11 11p15.2 604989 SPON1 F-spondin, Rat, homolog of SPON1 10418 ENSG00000262655 Spon1 (MGI:2385287) -chr11 14277919 14364505 11pter-p15.5 11p15.2 600098 RRAS2, TC21, NS12 Related Ras viral oncogene homolog 2 RRAS2 22800 ENSG00000133818 Ovarian carcinoma (3); Noonan syndrome 12, 618624 (3), Autosomal dominant Rras2 (MGI:1914172) -chr11 14457511 14499810 11p15.2 11p15.2 600959 COPB1, COPB, BARMACS Coatomer protein complex, subunit beta 1 COPB1 1315 ENSG00000129083 Baralle-Macken syndrome, 619255 (3), Autosomal recessive Copb1 (MGI:1917599) -chr11 14504875 14643661 11p15.1 11p15.2 602854 PSMA1, PROS30 Proteasome subunit, alpha-type, 1 PSMA1 5682 ENSG00000129084 Psma1 (MGI:1347005) -chr11 14643690 14874138 11p15 11p15.2 602047 PDE3B Phosphodiesterase-3B, cGMP-inhibited PDE3B 5140 ENSG00000152270 Pde3b (MGI:1333863) -chr11 14877439 14898914 11p15.2 11p15.2 608713 CYP2R1 Cytochrome P450, subfamily IIR, polypeptide 1 (vitamin D 25-hydroxylase) CYP2R1 120227 ENSG00000186104 Rickets due to defect in vitamin D 25-hydroxylation deficiency, 600081 (3), Autosomal recessive Cyp2r1 (MGI:2449771) -chr11 14966667 14972360 11p15.2-p15.1 11p15.2 114130 CALCA, CALC1 Calcitonin/calcitonin-related polypeptide, alpha CALCA 796 ENSG00000110680 same 220kb fragment as CALCB Calca (MGI:2151253) -chr11 15073592 15078636 11p15.2-p15.1 11p15.2 114160 CALCB, CALC2 Calcitonin-related polypeptide, beta CALCB 797 ENSG00000175868 Calcb (MGI:2151254) -chr11 15111415 15269674 11p15.2 11p15.2 610668 INSC INSC spindle orientation adaptor protein INSC 387755 ENSG00000188487 Insc (MGI:1917942) -chr11 15966448 16738476 11p15.3-p15.2 11p15.2 607257 SOX6, TOLCAS SRY-box 6 SOX6 55553 ENSG00000110693 Tolchin-Le Caignec syndrome, 618971 (3), Autosomal dominant Sox6 (MGI:98368) -chr11 16777296 17014422 11p15.1 11p15.2-p15.1 612686 PLEKHA7 Pleckstrin homology domain-containing protein, family A, member 7 PLEKHA7 144100 ENSG00000166689 Plekha7 (MGI:2445094) -chr11 16900000 31000000 11p15-p14 606528 DEL11p15p14, C11DELp15p14 Chromosome 11p15-p14 deletion syndrome (homozygous) contiguous gene deletion syndrome Chromosome 11p15-p14 deletion syndrome, 606528 (4), Autosomal recessive -chr11 16900000 22000000 11p15 611010 GINGF4, HGF4, GGF4 Fibromatosis, gingival, 4 100124414 between D11S1984 and D11S1338 Fibromatosis, gingival, 4, 611010 (2) -chr11 16900000 22000000 11p15 235000 IH, HHP Hemihyperplasia, isolated 100188864 epigenetic or uniparental disomy Hemihypertrophy, 235000 (2), Autosomal dominant -chr11 16900000 22000000 11p15 609470 LVNC2 Left ventricular noncompaction 2 619411 max lod at D11S902 Left ventricular noncompaction 2, 609470 (2) -chr11 16900000 22000000 11p15 616792 NBLST7 Neuroblastoma, susceptibility to, 7 107181289 associated with rs2168101 {Neuroblastoma, susceptibility to, 7}, 616792 (2) -chr11 17074387 17077666 11p 11p15.1 180476 RPS13 Ribosomal protein S13 RPS13 6207 ENSG00000110700 Rps13-ps5,Rps13 (MGI:3650602,MGI:1915302) -chr11 17086574 17207985 11p15.1 11p15.1 603601 PIK3C2A, CPK, OCSKD Phosphatidylinositol 3-kinase, class 2, alpha PIK3C2A 5286 ENSG00000011405 Oculoskeletodental syndrome, 618440 (3), Autosomal recessive Pik3c2a (MGI:1203729) -chr11 17260336 17349979 11p15-p14 11p15.1 608020 NUCB2, NEFA Nucleobindin 2 NUCB2 4925 ENSG00000070081 Nucb2 (MGI:1858179) -chr11 17351799 17377340 11p15.1 11p15.1 613714 B7H6 B7 homolog 6 NCR3LG1 374383 ENSG00000188211 -chr11 17385245 17389345 11p15.1 11p15.1 600937 KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13, PNDM2 Potassium inwardly-rectifying channel, subfamily J, member 11 KCNJ11 3767 ENSG00000187486 4.5kb 3' of SUR Diabetes, permanent neonatal 2, with or without neurologic features, 618856 (3), Autosomal dominant; {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant; Maturity-onset diabetes of the young, type 13, 616329 (3), Autosomal dominant; Diabetes mellitus, transient neonatal 3, 610582 (3), Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3), Autosomal dominant, Autosomal recessive Kcnj11 (MGI:107501) -chr11 17392497 17476848 11p15.1 11p15.1 600509 ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2, PNDM3 ATP-binding cassette, subfamily C, member 8 (sulfonylurea receptor) ABCC8 6833 ENSG00000006071 Diabetes mellitus, permanent neonatal 3, with or without neurologic features, 618857 (3), Autosomal dominant, Autosomal recessive; Diabetes mellitus, transient neonatal 2, 610374 (3); Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; Hypoglycemia of infancy, leucine-sensitive, 240800 (3), Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3), Autosomal dominant, Autosomal recessive Abcc8 (MGI:1352629) -chr11 17493894 17544415 11p15.1 11p15.1 605242 USH1C, DFNB18A USH1 protein network component harmonin USH1C 10083 ENSG00000006611 Acadian and Samaritan variety Usher syndrome, type 1C, 276904 (3), Autosomal recessive; Deafness, autosomal recessive 18A, 602092 (3), Autosomal recessive Ush1c (MGI:1919338) -chr11 17547258 17646043 11p14.3 11p15.1 604487 OTOG, OTGN, DFNB18B Otogelin OTOG 340990 ENSG00000188162 Deafness, autosomal recessive 18B, 614945 (3), Autosomal recessive Otog (MGI:1202064) -chr11 17719570 17722135 11p15.4 11p15.1 159970 MYOD1, MYF3, MYODRIF Myogenic differentiation 1 MYOD1 4654 ENSG00000129152 proximal to CALCA, HBB, BWS, PTH; ?11p14.3 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, 618975 (3), Autosomal recessive Myod1 (MGI:97275) -chr11 17734780 17783056 11p15 11p15.1 176258 KCNC1, EPM7 Potassium voltage-gated channel, Shaw-related subfamily, member 1 KCNC1 3746 ENSG00000129159 Epilepsy, progressive myoclonic 7, 616187 (3), Autosomal dominant Kcnc1 (MGI:96667) -chr11 17788047 18013046 11p14 11p15.1 606051 SERGEF, DELGEF Secretion-regulating guanine nucleotide exchange factor SERGEF 26297 ENSG00000129158 Sergef (MGI:1351630) -chr11 18017554 18046268 11p15.3-p14 11p15.1 191060 TPH1, TPH Tryptophan hydroxylase 1 (tryptophan-5-monooxygenase) TPH1 7166 ENSG00000129167 Tph1 (MGI:98796) -chr11 18120954 18138487 11p15.1 11p15.1 607229 MRGPRX3, MRGX3 Mas-related G protein-coupled receptor family, member X3 MRGPRX3 117195 ENSG00000179826 Mrgpra2a,Mrgpra5,Mrgpra6,Mrgprb8,Mrgpra7,Mrgpra8,Mrgpra9,Mrgprx1,Mrgpra1,Mrgprb3,Mrgprb4,Mrgpra3,Mrgprb5,Mrgpra4 (MGI:3033107,MGI:3033119,MGI:3033109,MGI:3033148,MGI:3033117,MGI:3033139,MGI:3033121,MGI:3033111,MGI:3033100,MGI:3033134,MGI:3033102,MGI:3033095,MGI:2684085,MGI:3821888) -chr11 18172836 18174279 11p15.1 11p15.1 607230 MRGPRX4, MRGX4 Mas-related G protein-coupled receptor family, member X4 MRGPRX4 117196 ENSG00000179817 Mrgpra2a,Mrgpra5,Mrgpra6,Mrgprb8,Mrgpra7,Mrgpra8,Mrgpra9,Mrgprx1,Mrgpra1,Mrgprb3,Mrgprb4,Mrgpra3,Mrgprb5,Mrgpra4 (MGI:3033107,MGI:3033119,MGI:3033109,MGI:3033148,MGI:3033117,MGI:3033139,MGI:3033121,MGI:3033111,MGI:3033100,MGI:3033134,MGI:3033102,MGI:3033095,MGI:2684085,MGI:3821888) -chr11 18231354 18236801 11p15.1 11p15.1 104752 SAA4 Serum amyloid A4, constitutive SAA4 6291 ENSG00000148965 Saa4 (MGI:98224) -chr11 18238235 18248667 11p15.1 11p15.1 104751 SAA2 Serum amyloid A2 SAA2 6289 ENSG00000134339 pseudogene = SAA3 Saa3,Saa1 (MGI:98221,MGI:98223) -chr11 18266263 18269966 11p15.1 11p15.1 104750 SAA1 Serum amyloid A1 SAA1 6288 ENSG00000173432 Saa2 (MGI:98222) -chr11 18278669 18322497 11p15-p13 11p15.1 607521 HPS5, RU2, KIAA1017 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 HPS5 11234 ENSG00000110756 Hermansky-Pudlak syndrome 5, 614074 (3), Autosomal recessive Hps5 (MGI:2180307) -chr11 18322566 18367044 11p15.1-p14 11p15.1 189972 GTF2H1 General transcription factor IIH, polypeptide 1 (62kD subunit) GTF2H1 2965 ENSG00000110768 within 50kb of LDHA Gtf2h1 (MGI:1277216) -chr11 18394562 18408424 11p15.4 11p15.1 150000 LDHA, LDH1, GSD11 Lactate dehydrogenase A LDHA 3939 ENSG00000134333 Glycogen storage disease XI, 612933 (3), Autosomal recessive Ldha (MGI:96759) -chr11 18412297 18452062 11p15.5-p15.3 11p15.1 150150 LDHC, LDH3 Lactate dehydrogenase C LDHC 3948 ENSG00000166796 closely linked to LDHB in other species; in man syntenic with LDHA; ?close to LDHA Ldhc (MGI:96764) -chr11 18455855 18479600 11p15.1 11p15.1 618928 LDHAL6A Lactate dehydrogenase A-like protein 6A LDHAL6A 160287 ENSG00000166800 -chr11 18480310 18526941 11p15.2-p15.1 11p15.1 601387 TSG101 Tumor susceptibility gene 101 TSG101 7251 ENSG00000074319 Tsg101 (MGI:106581) -chr11 18529608 18588733 11p15.2-p15.1 11p15.1 610985 UEVLD, UEV3, ATTP Ubiquitin E2 variant and lactate/malate dehydrogenase domains-containing protein UEVLD 55293 ENSG00000151116 Uevld (MGI:1860490) -chr11 18727927 18792720 11p15.2-p15.1 11p15.1 176879 PTPN5, STEP, STEP61 Protein tyrosine phosphatase, nonreceptor-type, 5 (striatum-enriched) PTPN5 84867 ENSG00000110786 Ptpn5 (MGI:97807) -chr11 18933498 18939413 11p15.1 11p15.1 607227 MRGPRX1, MRGX1 Mas-related G protein-coupled receptor family, member X1 MRGPRX1 259249 ENSG00000170255 Mrgpra2a,Mrgpra5,Mrgpra6,Mrgprb8,Mrgpra7,Mrgpra8,Mrgpra9,Mrgprx1,Mrgpra1,Mrgprb3,Mrgprb4,Mrgpra3,Mrgprb5,Mrgpra4 (MGI:3033107,MGI:3033119,MGI:3033109,MGI:3033148,MGI:3033117,MGI:3033139,MGI:3033121,MGI:3033111,MGI:3033100,MGI:3033134,MGI:3033102,MGI:3033095,MGI:2684085,MGI:3821888) -chr11 19054454 19060716 11p15.1 11p15.1 607228 MRGPRX2, MRGX2 Mas-related G protein-coupled receptor family, member X2 MRGPRX2 117194 ENSG00000183695 Mrgpra2a,Mrgpra5,Mrgpra6,Mrgprb8,Mrgpra7,Mrgpra8,Mrgpra9,Mrgprx2,Mrgprb1,Mrgpra1,Mrgprb2,Mrgprb3,Mrgprb4,Mrgpra3,Mrgprb5,Mrgpra4 (MGI:3033107,MGI:3033119,MGI:3033109,MGI:3033115,MGI:3033148,MGI:3588270,MGI:3033117,MGI:3033121,MGI:3033111,MGI:3033100,MGI:3033134,MGI:3033102,MGI:3033095,MGI:2684085,MGI:3821888,MGI:2441674) -chr11 19117098 19176419 11p15.1 11p15.1 612815 ZDHHC13, HIP14L Zinc finger DHHC domain-containing protein 13 ZDHHC13 54503 ENSG00000177054 Zdhhc13 (MGI:1919227) -chr11 19182029 19201982 11p15.1 11p15.1 600824 CSRP3, CRP3, CLP, CMD1M, CMH12 Cysteine- and glycine-rich protein 3 CSRP3 8048 ENSG00000129170 mutation identified in 1 CMD1M family ?Cardiomyopathy, dilated, 1M, 607482 (3); Cardiomyopathy, hypertrophic, 12, 612124 (3), Autosomal dominant Csrp3 (MGI:1330824) -chr11 19224062 19241654 11p15.1 11p15.1 612047 E2F8 E2F transcription factor 8 E2F8 79733 ENSG00000129173 E2f8 (MGI:1922038) -chr11 19345199 20121600 11p15.1 11p15.1 607026 NAV2, RAINB1, KIAA1419 Neuron navigator 2 NAV2 89797 ENSG00000166833 Nav2 (MGI:2183691) -chr11 20363713 20383781 11p15.1 11p15.1 605628 HTATIP2, TIP30, CC3 HIV-1 TAT-interacting protein 2, 30kD HTATIP2 10553 ENSG00000109854 Htatip2 (MGI:1859271) -chr11 20387562 20510860 11p15.1 11p15.1 603190 PRMT3, HRMT1L3 Protein arginine methyltransferase 3 PRMT3 10196 ENSG00000185238 Prmt3 (MGI:1919224) -chr11 20599493 20659284 11p15.2-p15.1 11p15.1 604159 SLC6A5, GLYT2, HKPX3 Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 SLC6A5 9152 ENSG00000165970 Hyperekplexia 3, 614618 (3), Autosomal dominant, Autosomal recessive Slc6a5 (MGI:105090) -chr11 20669550 21575685 11p15.2-p15.1 11p15.1 602319 NELL1 Neural epidermal growth factor-like protein 1 NELL1 4745 ENSG00000165973 Nell1 (MGI:2443902) -chr11 22000000 43400000 11p14.3-p12 185440 ST2 Suppression of tumorigenicity-2 6761 -chr11 22192484 22283356 11p14.3 11p14.3 608662 ANO5, TMEM16E, GDD1, LGMDR12 Anoctamin 5 ANO5 203859 ENSG00000171714 Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3), Autosomal recessive; Miyoshi muscular dystrophy 3, 613319 (3), Autosomal recessive; Gnathodiaphyseal dysplasia, 166260 (3), Autosomal dominant Ano5 (MGI:3576659) -chr11 22338380 22379502 11p14.3 11p14.3 607563 SLC17A6, VGLUT2, DNPI Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 SLC17A6 57084 ENSG00000091664 Slc17a6 (MGI:2156052) -chr11 22622532 22625822 11p15 11p14.3 613897 FANCF Fanconi anemia, complementation group F FANCF 2188 ENSG00000183161 Fanconi anemia, complementation group F, 603467 (3), Autosomal recessive Fancf (MGI:3689889) -chr11 22627757 22885929 11p15.2-p14.3 11p14.3 602835 GAS2 Growth arrest-specific 2 GAS2 2620 ENSG00000148935 Gas2 (MGI:95657) -chr11 24496487 25082637 11p14-p13 11p14.3 608178 LUZP2 Leucine zipper protein 2 LUZP2 338645 ENSG00000187398 Luzp2 (MGI:1889615) -chr11 26188807 26667906 11p14 11p14.3-p14.2 610110 ANO3, TMEM16C, C11orf25, DYT24 Anoctamin 3 ANO3 63982 ENSG00000134343 Dystonia 24, 615034 (3), Autosomal dominant Ano3 (MGI:3613666) -chr11 26200000 63600000 11p14.2-q12.3 612642 DFNA59 Deafness, autosomal dominant 59 100271924 between D22S929 and D11S480 Deafness, autosomal dominant 59, 612642 (2), Autosomal dominant -chr11 26667019 26723355 11p14.2 11p14.2 612455 SLC5A12, SMCT2 Solute carrier family 5 (sodium/glucose cotransporter), member 12 SLC5A12 159963 ENSG00000148942 Slc5a12 (MGI:2138890) -chr11 26994111 26997086 11p14.2 11p14.2 617085 FIBIN Fin bud initiation factor, zebrafish, homolog of FIBIN 387758 ENSG00000176971 Fibin (MGI:1914856) -chr11 27040704 27127808 11p14.2 11p14.2 603312 BBOX1, BBOX Butyrobetaine-gamma, 2-oxoglutarate dioxygenase 1 BBOX1 8424 ENSG00000129151 Bbox1 (MGI:1891372) -chr11 27200000 48800000 11p14.1-p11.2 613364 SPG41 Spastic paraplegia 41 100359402 max lod 2.36; between D11S1324 and D11S1993 ?Spastic paraplegia 41, autosomal dominant, 613364 (2), Autosomal dominant -chr11 27200000 31000000 11p14 613636 TST1 Tuberculin skin test reactivity, absence of 100526790 at chr11:26.37M [Tuberculin skin test reactivity, absence of], 613636 (2) -chr11 27338511 27363214 11p14.1 11p14.1 612324 CCDC34 Coiled-coil domain-containing protein 34 CCDC34 91057 ENSG00000109881 Ccdc34 (MGI:1915451) -chr11 27365960 27472789 11p14.1 11p14.1 606666 LGR4, GPR48, BNMD17 Leucine-rich repeat-containing G protein-coupled receptor 4 LGR4 55366 ENSG00000205213 previously mapped to 5q34-q35.1 {Bone mineral density, low, susceptibility to}, 615311 (3) Lgr4 (MGI:1891468) -chr11 27494417 27506768 11p14.1 11p14.1 612332 LIN7C, VELI3, MALS3 Lin7, C. elegans, homolog of, C LIN7C 55327 ENSG00000148943 Lin7c (MGI:1330839) -chr11 27506851 27698170 11p14 11p14.1 611468 BDNFAS, BDNFOS BDNF antisense RNA BDNF-AS 497258 ENSG00000245573 -chr11 27654892 27722029 11p13 11p14.1 113505 BDNF Brain-derived neurotrophic factor BDNF 627 ENSG00000176697 homeology with NRF3 on 12p; at p14 boundary Bdnf (MGI:88145) -chr11 27888170 27891091 11p14.1 11p14.1 140575 HSP90AA2P, HSP90AA2, HSPCAL3 Heat-shock protein, 90kD, alpha, class A, member 2, pseudogene HSP90AA2P 3324 -chr11 28020618 28108179 11p14 11p14.1 611271 KIF18A Kinesin family member 18A KIF18A 81930 ENSG00000121621 Kif18a (MGI:2446977) -chr11 28056814 28056909 11p14.1 11p14.1 612330 MIR610, MIRN610 Micro RNA 610 MIR610 693195 ENSG00000207874 -chr11 28108250 28527040 11p14.1 11p14.1 618711 METTL15 Methyltransferase-like 15 METTL15 196074 ENSG00000169519 Mettl15 (MGI:1924144) -chr11 30009729 30017029 11q13.4-q14.1 11p14.1 176266 KCNA4, KCNA8, MCIDDS Potassium voltage-gated channel, shaker-related subfamily, member 4 KCNA4 3739 ENSG00000182255 other map to 11p Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3), Autosomal recessive Kcna4 (MGI:96661) -chr11 30231013 30235193 11p13 11p14.1 136530 FSHB, HH24 Follicle-stimulating hormone, beta polypeptide FSHB 2488 ENSG00000131808 distal to AN2 Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3), Autosomal recessive Fshb (MGI:95582) -chr11 30323103 30338457 11p14.1-p13 11p14.1 612295 C11orf46 Chromosome 11 open reading frame 46 ARL14EP 120534 ENSG00000152219 Arl14ep (MGI:1926020) -chr11 30384078 30586994 11p14-p13 11p14.1 600911 MPPED2, C11orf8, D11S302E, 239FB Metallophosphoesterase domain-containing protein 2 MPPED2 744 ENSG00000066382 Mpped2 (MGI:1924265) -chr11 30863602 31369809 11p13 11p14-p13 608062 DCDC1, DCDC5 Doublecortin domain-containing protein 1 DCDC1 341019 ENSG00000170959 -chr11 31000000 63600000 11p13-q12 607644 CANDF3, CANDN1, FCNC Candidiasis, familial, 3 338434 between D11S1312 and D11S4191 Candidiasis, familial, 3, 607644 (2), Autosomal dominant -chr11 31000000 36400000 11p13 616902 DEL11p13, C11DELp13 Chromosome 11p13 deletion syndrome, distal Chromosome 11p13 deletion syndrome, distal, 616902 (4), Autosomal dominant -chr11 31000000 36400000 11p13 194072 DEL11p13, C11DELp13, WAGR Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (chromosome 11p13 deletion syndrome) deletion of WT1 and PAX6 genes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072 (4), Somatic mutation, Autosomal dominant -chr11 31000000 43400000 11p13-p12 609941 DFNB51 Deafness, autosomal recessive 51 448963 max lod at D11S4102 Deafness, autosomal recessive 51, 609941 (2), Autosomal recessive -chr11 31000000 36400000 11p13 117100 ECT, BECTS Centrotemporal epilepsy 100379198 previously assigned to 15q14 Centrotemporal epilepsy, 117100 (2), Isolated cases -chr11 31000000 43400000 11p13-p12 605750 EVR3 Exudative vitreoretinopathy 3 81864 Exudative vitreoretinopathy 3, 605750 (2), Autosomal dominant -chr11 31000000 85900000 11p13-q14.1 614344 MRT23 Mental retardation, autosomal recessive 23 100852398 between rs604518 and rs10899421 Mental retardation, autosomal recessive 23, 614344 (2), Autosomal recessive -chr11 31000000 36400000 11p13 609256 MYP7 Myopia 7 553190 Myopia 7, 609256 (2), Multifactorial -chr11 31000000 43400000 11p13-p12 612469 WAGRO, DEL11p14p12 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome contiguous gene deletion syndrome WAGRO syndrome, 612469 (4) -chr11 31369839 31432834 11p13 11p13 611072 DNAJC24, DPH4 DNAJ/HSP40 homolog, subfamily C, member 24 DNAJC24 120526 ENSG00000170946 Dnajc24 (MGI:1919522) -chr11 31432400 31509643 11p13 11p13 612323 IMMP1L, IMP1 Inner mitochondrial membrane peptidase, subunit 1 IMMP1L 196294 ENSG00000148950 Immp1l (MGI:1913791) -chr11 31509766 31790323 11p13 11p13 606985 ELP4, PAX6NEB, AN2 Elongation protein 4, S. cerevisiae, homolog of ELP4 26610 ENSG00000109911 mutation identified in 1 AN2 patient ?Aniridia 2, 617141 (3), Autosomal dominant Elp4 (MGI:1925016) -chr11 31789025 31817960 11p13 11p13 607108 PAX6, AN2, MGDA, FVH1, ASGD5 Paired box homeotic gene-6 PAX6 5080 ENSG00000007372 mutation identified in 1 patient each with MDGA, COLBN, or COLB Optic nerve hypoplasia, 165550 (3), Autosomal dominant; Cataract with late-onset corneal dystrophy, 106210 (3), Autosomal dominant; ?Coloboma, ocular, 120200 (3), Autosomal dominant; ?Coloboma of optic nerve, 120430 (3), Autosomal dominant; Aniridia, 106210 (3), Autosomal dominant; Anterior segment dysgenesis 5, multiple subtypes, 604229 (3), Autosomal dominant; ?Morning glory disc anomaly, 120430 (3), Autosomal dominant; Foveal hypoplasia 1, 136520 (3), Autosomal dominant; Keratitis, 148190 (3), Autosomal dominant Pax6 (MGI:97490) -chr11 32091073 32105721 11p13 11p13 602735 RCN1 Reticulocalbin 1 RCN1 5954 ENSG00000049449 Rcn1 (MGI:104559) -chr11 32387774 32435538 11p13 11p13 607102 WT1, NPHS4 WT1 transcription factor WT1 7490 ENSG00000184937 clumped: pter-FSHB-AN2-WT1-CAT Mesothelioma, somatic, 156240 (3); Meacham syndrome, 608978 (3); Frasier syndrome, 136680 (3), Somatic mutation, Autosomal dominant; Nephrotic syndrome, type 4, 256370 (3), Autosomal dominant; Denys-Drash syndrome, 194080 (3), Somatic mutation, Autosomal dominant; Wilms tumor, type 1, 194070 (3), Somatic mutation, Autosomal dominant Wt1 (MGI:98968) -chr11 32435517 32458768 11p13 11p13 607899 WT1AS, WIT1 WT1 antisense RNA WT1-AS 51352 ENSG00000183242 Wt1os (MGI:2138884) -chr11 32583815 32606263 11p13 11p13 609641 EIF3M, PCID1, B5, GA17 Eukaryotic translation initiation factor 3, subunit M EIF3M 10480 ENSG00000149100 Eif3m (MGI:1351744) -chr11 32602720 32794661 11p13 11p13 612328 CCDC73 Coiled-coil domain-containing protein 73 CCDC73 493860 ENSG00000186714 Ccdc73 (MGI:3606488) -chr11 32829755 32858119 11p13 11p13 611690 PRRG4, PRGP4, TMG4 Proline-rich gamma-carboxyglutamic acid protein 4 PRRG4 79056 ENSG00000135378 Prrg4 (MGI:2442211) -chr11 32892810 32980269 11p13 11p13 619440 QSER1 Glutamine- and serine-rich protein 1 QSER1 79832 ENSG00000060749 Qser1 (MGI:2138986) -chr11 33015877 33033581 11p13 11p13 612294 DEPDC7, TR2 DEP domain-containing protein 7 DEPDC7 91614 ENSG00000121690 Depdc7 (MGI:2139258) -chr11 33076149 33079453 11p14.1-p13 11p13 612296 LOC283267 LOC283267 gene LINC00294 283267 ENSG00000280798 -chr11 33084583 33161479 11p13 11p13 600367 CSTF3 Cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD CSTF3 1479 ENSG00000176102 Cstf3 (MGI:1351825) -chr11 33256671 33357022 11p13 11p13 604424 HIPK3, PKY, DYRK6 Homeodomain-interacting protein kinase-3 HIPK3 10114 ENSG00000110422 Hipk3 (MGI:1314882) -chr11 33376107 33674101 11p13 11p13 612297 C11orf41, G2 Chromosome 11 open reading frame 41 KIAA1549L 25758 ENSG00000110427 D430041D05Rik (MGI:2181743) -chr11 33703009 33736478 11p13 11p13 107271 CD59, MIC11 CD59 antigen (p18-20) CD59 966 ENSG00000085063 in mouse Ly-6 = multigene complex Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3), Autosomal recessive Cd59a,Cd59b (MGI:1888996,MGI:109177) -chr11 33740943 33774519 11p13 11p13 609089 FBXO3, FBX3, FBA F-box only protein 3 FBXO3 26273 ENSG00000110429 Fbxo3 (MGI:1929084) -chr11 33858575 33892075 11p13 11p13 180385 LMO2, RBTNL1, RHOM2, TTG2 LIM domain only 2 (rhombotin-like 1) LMO2 4005 ENSG00000135363 3rd rhombotin gene not on 11 Leukemia, acute T-cell, 180385 (2) Lmo2 (MGI:102811) -chr11 34051662 34102609 11p13 11p13 601178 CAPRIN1, M11S1, GPIAP1, GRIP137 Cell cycle associated protein 1 CAPRIN1 4076 ENSG00000135387 Caprin1 (MGI:1858234) -chr11 34105628 34146907 11p13 11p13 609221 NAT10, ALP, KIAA1709 N-acetyltransferase 10 NAT10 55226 ENSG00000135372 Nat10 (MGI:2138939) -chr11 34438933 34472059 11p13 11p13 115500 CAT Catalase CAT 847 ENSG00000121691 cen-CAT-WT1-AN2-pter Acatalasemia, 614097 (3) Cat (MGI:88271) -chr11 34478790 34513793 11p15-p13 11p13 605169 ELF5, ESE2 E74-like factor 5 (epithelium-specific ETS factor 2) ELF5 2001 ENSG00000135374 Elf5 (MGI:1335079) -chr11 34621092 34663287 11p12 11p13 605439 EHF, ESE3 ETS homologous factor EHF 26298 ENSG00000135373 Ehf (MGI:1270840) -chr11 34882294 34916410 11p13 11p13 612491 APIP, CGI29, MMRP19 APAF1-interacting protein APIP 51074 ENSG00000149089 Apip (MGI:1926788) -chr11 34915828 34996127 11p13 11p13 608769 PDHX, PDX1, E3BP, PDHXD Pyruvate dehydrogenase complex, lipoyl-containing component X PDHX 8050 ENSG00000110435 Lacticacidemia due to PDX1 deficiency, 245349 (3), Autosomal recessive Pdhx (MGI:1351627) -chr11 35139167 35232401 11pter-p13 11p13 107269 CD44, MDU2, MDU3, MIC4, IN CD44 antigen (homing function) CD44 960 ENSG00000026508 [Blood group, Indian system], 609027 (3) Cd44 (MGI:88338) -chr11 35251204 35420057 11p13-p12 11p13 600300 SLC1A2, EAAT2, DEE41 Solute carrier family 1 (glial high affinity glutamate transporter), member 2 SLC1A2 6506 ENSG00000110436 Developmental and epileptic encephalopathy 41, 617105 (3), Autosomal dominant Slc1a2 (MGI:101931) -chr11 35618459 35620864 11p13 11p13 612206 FJX1 Four-jointed box, Drosophila, homolog of, 1 FJX1 24147 ENSG00000179431 Fjx1 (MGI:1341907) -chr11 35662691 35818006 11p13 11p13 612298 TRIM44, AN3 Tripartite motif-containing protein 44 TRIM44 54765 ENSG00000166326 mutation identified in 1 AN3 family ?Aniridia 3, 617142 (3), Autosomal dominant Trim44 (MGI:1931835) -chr11 35944061 36232135 11p13 11p13 617986 LDLRAD3, LRAD3 Low density lipoprotein receptor class A domain-containing protein 3 LDLRAD3 143458 ENSG00000179241 Ldlrad3 (MGI:2138856) -chr11 36272291 36289427 11p13 11p13 612299 COMM9 COMM domain-containing protein 9 COMMD9 29099 ENSG00000110442 Commd9 (MGI:1923751) -chr11 36296287 36465203 11p13-p12 11p13-p12 611728 PRR5L, PROTOR2, FLJ14213 Proline-rich protein 5-like PRR5L 79899 ENSG00000135362 Prr5l (MGI:1919696) -chr11 36400000 43400000 11p12 611739 BMND8 Bone mineral density QTL 8 100188854 between D11S1392 and D11S4102 {Osteoporosis}, 166710 (2), Autosomal dominant -chr11 36400000 53400000 11p12-p11 610898 PSNP3 Supranuclear palsy, progressive, 3 100038248 Supranuclear palsy, progressive, 3, 610898 (2) -chr11 36483768 36510312 11p12 11p12 602355 TRAF6 TNF receptor-associated factor 6 TRAF6 7189 ENSG00000175104 Traf6 (MGI:108072) -chr11 36510352 36579761 11p13 11p12 179615 RAG1 Recombination activating gene-1 RAG1 5896 ENSG00000166349 assignment to 14 in error Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive; Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3) Rag1 (MGI:97848) -chr11 36591942 36598235 11p13 11p12 179616 RAG2 Recombination activating gene-2 RAG2 5897 ENSG00000175097 assignment to 14 in error Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive; Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive Rag2 (MGI:97849) -chr11 36594245 36659271 11p12 11p12 619270 IFTAP, HEPIS, NWC, C11orf74 Intraflagellar transport-associated protein IFTAP 119710 ENSG00000166352 Iftap (MGI:1915420) -chr11 40107065 41460418 11p12 11p12 608817 LRRC4C, NGL1, KIAA1580 Leucine rich repeat containing 4C (netrin-G1 ligand) LRRC4C 57689 ENSG00000148948 Lrrc4c (MGI:2442636) -chr11 43311969 43344529 11p12 11p12 609774 API5, AAC11 Apoptosis inhibitor 5 API5 8539 ENSG00000166181 Api5 (MGI:1888993) -chr11 43358884 43494930 11p12-p11.2 11p-p 619388 TTC17 Tetratricopeptide repeat domain-containing protein 17 TTC17 55761 ENSG00000052841 Ttc17 (MGI:1921819) -chr11 43400000 48800000 11p11.2 601224 PSS Potocki-Shaffer syndrome contiguous gene syndrome caused by deletion of 11p11.2 Potocki-Shaffer syndrome, 601224 (4), Autosomal dominant -chr11 43400000 48800000 11p11.2 191270 TYRL Tyrosinase-like TYRL 7300 -chr11 43576475 43856616 11p11.2 11p11.2 609574 HSD17B12, KAR 17-beta-hydroxysteroid dehydrogenase XII HSD17B12 51144 ENSG00000149084 Hsd17b12 (MGI:1926967) -chr11 43880830 43920273 11p11.12 11p11.2 610603 ALKBH3, PCA1, DEPC1, ABH3 AlkB homolog 3, alpha-ketoglutarate-dependent dioxygenase ALKBH3 221120 ENSG00000166199 Alkbh3 (MGI:1916363) -chr11 44066117 44084236 11p11 11p11.2 608405 ACCS, ACS, PHACS 1-aminocyclopropane-1-carboxylate synthase ACCS 84680 ENSG00000110455 Accs (MGI:1919717) -chr11 44095677 44251961 11p12-p11 11p11.2 608210 EXT2, SSMS Exostosin glycosyltransferase 2 EXT2 2132 ENSG00000151348 Seizures, scoliosis, and macrocephaly syndrome, 616682 (3), Autosomal recessive; Exostoses, multiple, type 2, 133701 (3), Autosomal dominant Ext2 (MGI:108050) -chr11 44260439 44310138 11p11.2 11p11.2 605420 ALX4, PFM2, FPP, FND2, CRS5 Aristaless-like 4, mouse, homolog of ALX4 60529 ENSG00000052850 Parietal foramina 2, 609597 (3), Autosomal dominant; {Craniosynostosis 5, susceptibility to}, 615529 (3), Autosomal dominant; Frontonasal dysplasia 2, 613451 (3), Autosomal recessive Alx4 (MGI:108359) -chr11 44565609 44620362 11p11.2 11p11.2 600623 CD82, SAR2, KAI1, ST6 CD82 antigen CD82 3732 ENSG00000085117 Cd82 (MGI:104651) -chr11 44726961 44932422 11p11.2 11p11.2 619399 TSPAN18 Tetraspanin 18 TSPAN18 90139 ENSG00000157570 Tspan18 (MGI:1917186) -chr11 44932347 44951305 11p11.2 11p11.2 617867 TP53I11, PIG11 Tumor protein p53-inducible protein 11 TP53I11 9537 ENSG00000175274 Trp53i11 (MGI:2670995) -chr11 45094158 45235113 11p11.2 11p11.2 616347 PRDM11, PFM8 PR domain-containing protein 11 PRDM11 56981 ENSG00000019485 Prdm11 (MGI:2685553) -chr11 45240301 45286340 Chr.11 11p11.2 607716 SYT13, KIAA1427 Synaptotagmin 13 SYT13 57586 ENSG00000019505 Syt13 (MGI:1933945) -chr11 45647688 45665650 11p11.2-p11.1 11p11.2 603797 CHST1, KSGAL6ST Carbohydrate sulfotransferase-1 CHST1 8534 ENSG00000175264 Chst1 (MGI:1924219) -chr11 45804071 45813015 11p11.2 11p11.2 605881 SLC35C1, FUCT1, CDG2C Solute carrier family 35, member C1 (GDP-Fucose transporter 1) SLC35C1 55343 ENSG00000181830 Congenital disorder of glycosylation, type IIc, 266265 (3), Autosomal recessive Slc35c1 (MGI:2443301) -chr11 45847117 45883243 Chr.11 11p11.2 603732 CRY2 Cryptochrome 2 CRY2 1408 ENSG00000121671 Cry2 (MGI:1270859) -chr11 45885650 45906464 11p12-p11.2 11p11.2 604641 MAPK8IP1, IB1 Mitogen-activated protein kinase 8-interacting protein 1 MAPK8IP1 9479 ENSG00000121653 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant Mapk8ip1 (MGI:1309464) -chr11 45909662 45917876 11p12-p11.2 11p11.2 603360 PEX16, PBD8A, PBD8B Peroxisome biogenesis factor 16 PEX16 9409 ENSG00000121680 Peroxisome biogenesis disorder 8B, 614877 (3), Autosomal recessive; Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3), Autosomal recessive Pex16 (MGI:1338829) -chr11 45921620 45929095 11p11.2 11p11.2 609709 GYLTL1B, LARGE2 Glycosyltransferase-like 1B LARGE2 120071 ENSG00000165905 Large2 (MGI:2443769) -chr11 45929318 46121453 11p11.2 11p11.2 608325 PHF21A, BHC80, KIAA1696, IDDBCS PHD finger protein 21A PHF21A 51317 ENSG00000135365 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725 (3), Autosomal dominant Phf21a (MGI:2384756) -chr11 46277660 46321408 11p11.2 11p11.2 616215 CREB3L1, OASIS, OI16 cAMP response element-binding protein 3-like 1 CREB3L1 90993 ENSG00000157613 Osteogenesis imperfecta, type XVI, 616229 (3), Autosomal recessive Creb3l1 (MGI:1347062) -chr11 46332925 46380553 11p11.2 11p11.2 601441 DGKZ Diacylglycerol kinase, zeta, 104kD DGKZ 8525 ENSG00000149091 Dgkz (MGI:1278339) -chr11 46380783 46383836 11p11.2 11p11.2 162096 MDK, NEGF2 Midkine (neurite growth-promoting factor 2) MDK 4192 ENSG00000110492 Mdk (MGI:96949) -chr11 46383788 46391775 11p12-p11.2 11p11.2 118495 CHRM4 Cholinergic receptor, muscarinic, 4 CHRM4 1132 ENSG00000180720 Chrm4 (MGI:88399) -chr11 46396411 46594054 11p11.2 11p11.2 611359 AMBRA1, KIAA1736 Activating molecule in beclin 1-regulated autophagy AMBRA1 55626 ENSG00000110497 Ambra1 (MGI:2443564) -chr11 46602860 46617893 11p11.2 11p11.2 615086 HARBI1 Harbinger transposase-derived gene 1 HARBI1 283254 ENSG00000180423 Harbi1 (MGI:2443194) -chr11 46617526 46674517 11p11.2 11p11.2 615088 ATG13, KIAA0652, PARATARG8 Autophagy related 13 ATG13 9776 ENSG00000175224 Atg13 (MGI:1196429) -chr11 46677076 46700659 11p12-q12 11p11.2 602732 ARHGAP1, RHOGAP1, CDC42GAP RHO GTPase-activating protein 1 ARHGAP1 392 ENSG00000175220 Arhgap1 (MGI:2445003) -chr11 46701030 46705911 11p11.2 11p11.2 616454 ZNF408, EVR6, RP72 Zinc finger protein 408 ZNF408 79797 ENSG00000175213 mutation identified in 1 EVR6 family Retinitis pigmentosa 72, 616469 (3), Autosomal recessive; ?Exudative vitreoretinopathy 6, 616468 (3), Autosomal dominant Zfp408 (MGI:2685857) -chr11 46719212 46739505 11p11-q12 11p11.2 176930 F2, THPH1, RPRGL2 Coagulation factor II (thrombin) F2 2147 ENSG00000180210 Hypoprothrombinemia, 613679 (3), Autosomal recessive; {Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3), Autosomal dominant; Dysprothrombinemia, 613679 (3), Autosomal recessive; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial; Thrombophilia due to thrombin defect, 188050 (3), Autosomal dominant F2 (MGI:88380) -chr11 46743047 46846279 11p11.2 11p11.2 611142 CKAP5, CHTOG, MSPS, KIAA0097 Cytoskeleton-associated protein 5 CKAP5 9793 ENSG00000175216 Ckap5 (MGI:1923036) -chr11 46854714 46918549 11p12-p11.2 11p11.2 604270 LRP4, MEGF7, CLSS, SOST2, CMS17 Low density lipoprotein receptor-related protein 4 LRP4 4038 ENSG00000134569 mutation identified in 1 CMS17 family ?Myasthenic syndrome, congenital, 17, 616304 (3), Autosomal recessive; Sclerosteosis 2, 614305 (3), Autosomal dominant, Autosomal recessive; Cenani-Lenz syndactyly syndrome, 212780 (3), Autosomal recessive Lrp4 (MGI:2442252) -chr11 47164300 47176879 11p11.2-p11.12 11p11.2 606908 ARFGAP2, ZNF289 ADP-ribosylation factor GTPase-activating protein 2 ARFGAP2 84364 ENSG00000149182 Arfgap2 (MGI:1924288) -chr11 47177520 47186445 11p11 11p11.2 606513 PACSIN3 Protein kinase C and casein kinase substrate in neurons 3 PACSIN3 29763 ENSG00000165912 Pacsin3 (MGI:1891410) -chr11 47214968 47239217 11p12-p11 11p11.2 600811 DDB2 Damage-specific DNA binding protein 2, 48kD DDB2 1643 ENSG00000134574 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3), Autosomal recessive Ddb2 (MGI:1355314) -chr11 47239301 47248813 11p11.2 11p11.2 171650 ACP2 Acid phosphatase 2, lysosomal ACP2 53 ENSG00000134575 ?Lysosomal acid phosphatase deficiency, 200950 (1), Autosomal recessive Acp2 (MGI:87882) -chr11 47248299 47269032 11p11.2 11p11.2 602423 NR1H3, LXRA Nuclear receptor subfamily 1, group H, member 3 NR1H3 10062 ENSG00000025434 Nr1h3 (MGI:1352462) -chr11 47269187 47330030 11p11.2 11p11.2 603584 MADD, DENN, NEDDISH, DEEAH MAP kinase-activating death domain (differentially expressed in normal and neoplastic cells) MADD 8567 ENSG00000110514 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, 619005 (3), Autosomal recessive; DEEAH syndrome, 619004 (3), Autosomal recessive Madd (MGI:2444672) -chr11 47331405 47352701 11p11.2 11p11.2 600958 MYBPC3, CMH4, CMD1MM, LVNC10 Myosin-binding protein C, cardiac MYBPC3 4607 ENSG00000134571 Cardiomyopathy, hypertrophic, 4, 115197 (3), Autosomal dominant, Autosomal recessive; Cardiomyopathy, dilated, 1MM, 615396 (3), Autosomal dominant; Left ventricular noncompaction 10, 615396 (3), Autosomal dominant Mybpc3 (MGI:102844) -chr11 47354858 47395639 11p11.2 11p11.2 165170 SPI1, SFPI1 SPI1 protooncogene SPI1 6688 ENSG00000066336 Spi1 (MGI:98282) -chr11 47407131 47416499 11p11.2 11p11.2 608735 SLC39A13, ZIP13, EDSSPD3 Solute carrier family 39 (zinc transporter), member 13 SLC39A13 91252 ENSG00000165915 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3), Autosomal recessive Slc39a13 (MGI:1915677) -chr11 47418774 47426472 11p13-p12 11p11.2 186852 PSMC3, TBP1, DCIDP Proteasome (prosome, macropain) 26S subunit, ATPase, 3 PSMC3 5702 ENSG00000165916 mutation identified in 1 DCIDP family ?Deafness, cataract, impaired intellectual development, and polyneuropathy, 619354 (3), Autosomal recessive Psmc3 (MGI:1098754) -chr11 47437763 47449135 11p11.2-p11.1 11p11.2 601592 RAPSN, CMS1D, CMS11, FADS2 Receptor-associated protein of the synapse, 43kD RAPSN 5913 ENSG00000165917 Fetal akinesia deformation sequence 2, 618388 (3), Autosomal recessive; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3), Autosomal recessive Rapsn (MGI:99422) -chr11 47465936 47565538 11p11 11p11.2 601074 CELF1, CUGBP1, NAB50, BRUNOL2, CUGBP CUGbp and ELAV-like family, member 1 CELF1 10658 ENSG00000149187 Celf1 (MGI:1342295) -chr11 47565598 47573460 11p11.2 11p11.2 609538 PTPMT1, PLIP Protein-tyrosine phosphatase, mitochondrial, 1 PTPMT1 114971 ENSG00000110536 Ptpmt1 (MGI:1913711) -chr11 47572196 47578969 11p11.2 11p11.2 617645 KBTBD4, HSPC252, BKLHD4 Kelch repeat- and BTB/POZ domain-containing protein 4 KBTBD4 55709 ENSG00000123444 Kbtbd4 (MGI:1914386) -chr11 47579073 47584561 11p11.11 11p11.2 603846 NDUFS3, MC1DN8 NADH-ubiquinone oxidoreductase core subunit S3 NDUFS3 4722 ENSG00000213619 Mitochondrial complex I deficiency, nuclear type 8, 618230 (3), Autosomal recessive Ndufs3 (MGI:1915599) -chr11 47589663 47596335 11p11.2 11p11.2 614911 C1QTNF4, CTRP4 C1q- and tumor necrosis factor-related protein 4 C1QTNF4 114900 ENSG00000172247 C1qtnf4 (MGI:1914695) -chr11 47604308 47642596 11q12.1 11p11.2 613221 MTCH2 Mitochondrial carrier homolog 2 MTCH2 23788 ENSG00000109919 Mtch2 (MGI:1929260) -chr11 47659167 47715381 11p11.2 11p11.2 617345 AGBL2, CCP2 ATP/GTP-binding protein-like 2 AGBL2 79841 ENSG00000165923 Agbl2 (MGI:2443254) -chr11 47716493 47767459 11p11.2 11p11.2 615265 FNBP4, FBP30, KIAA1014 Formin-binding protein 4 FNBP4 23360 ENSG00000109920 Fnbp4 (MGI:1860513) -chr11 47778082 47848543 11p11.2 11p11.2 607614 NUP160, KIAA0197, NPHS19 Nucleoporin, 160kD NUP160 23279 ENSG00000030066 mutation identified in 1 NPHS19 family ?Nephrotic syndrome, type 19, 618178 (3), Autosomal recessive Nup160 (MGI:1926227) -chr11 47980503 48170838 11p11.2 11p11.2 600925 PTPRJ, DEP1 Protein tyrosine phosphatase, receptor type, J polypeptide PTPRJ 5795 ENSG00000149177 Colon cancer, somatic, 114500 (3) Ptprj (MGI:104574) -chr11 49145091 49208641 11p11.2 11p11.12 600934 FOLH1, FOLH, PSM, PSMA Folate hydrolase 1 (prostate-specific membrane antigen) FOLH1 2346 ENSG00000086205 ?pseudogene on 11q14 Folh1 (MGI:1858193) -chr11 51000000 53400000 11p11 609630 CLLS1 Leukemia, chronic lymphocytic, susceptibility to, 1 100188791 {Leukemia, chronic lymphocytic, susceptibility to, 1}, 609630 (2) -chr11 54603068 54603997 11p11.12 11q11 614273 OR4C46 Olfactory receptor, family 4, subfamily C, member 46 OR4C46 119749 ENSG00000185926 Olfr1258,Olfr1257,Olfr1202,Olfr1204 (MGI:3031036,MGI:3031038,MGI:3031091,MGI:3031092) -chr11 55800000 77400000 11q12.1-q13.5 135610 FNL2 Fibronectin-like-2 -chr11 55935455 55936399 11q12.1 11q12.1 608496 OR5I1, OLF1 Olfactory receptor, family 5, subfamily I, member 1 OR5I1 10798 ENSG00000167825 Olfr152 (MGI:1313139) -chr11 55993680 55994624 11q12.1 11q12.1 608492 OR5F1 Olfactory receptor, family 5, subfamily F, member 1 OR5F1 338674 ENSG00000149133 -chr11 57181952 57191716 11q12.1 11q12.1 615213 LRRC55 Leucine-rich repeat-containing protein 55 LRRC55 219527 ENSG00000183908 Lrrc55 (MGI:2685197) -chr11 57233590 57237249 11q12 11q12.1 600052 APLNR, AGTRL1, APJ Apelin receptor APLNR 187 ENSG00000134817 Aplnr (MGI:1346086) -chr11 57299630 57324951 11q12 11q12.1 607104 TNKS1BP1, TAB182, KIAA1741 Tankyrase 1-binding protein 1, 182kD TNKS1BP1 85456 ENSG00000149115 Tnks1bp1 (MGI:2446193) -chr11 57325985 57335891 11q12 11q12.1 604328 SSRP1, FACT Structure-specific recognition protein 1 SSRP1 6749 ENSG00000149136 Ssrp1 (MGI:107912) -chr11 57335942 57372398 11q12 11q12.1 600843 P2RX3, P2X3 Purinergic receptor P2X, ligand-gated ion channel, 3 P2RX3 5024 ENSG00000109991 P2rx3 (MGI:1097160) -chr11 57376768 57381149 11cen-q12 11q12.1 606814 PRG3, MBPH Proteoglycan 3 PRG3 10394 ENSG00000156575 Prg3 (MGI:1858200) -chr11 57386779 57390649 11cen-q12 11q12.1 605601 PRG2, MBP Proteoglycan 2 PRG2 5553 ENSG00000186652 Prg2 (MGI:103294) -chr11 57406953 57427579 11q12.1 11q12.1 618034 SLC43A3, EEG1, ENBT1 Solute carrier family 43, member 3 SLC43A3 29015 ENSG00000134802 Slc43a3 (MGI:1931054) -chr11 57460527 57477533 11q12.1 11q12.1 610462 RTN4RL2, NGRH1, NGR2 Reticulon 4 receptor-like 2 RTN4RL2 349667 ENSG00000186907 Rtn4rl2 (MGI:2669796) -chr11 57484530 57516560 11p11.2-p11.1 11q12.1 603733 SLC43A1, LAT3, POV1 Solute carrier family 43 (L-type amino acid transporter), member 1 SLC43A1 8501 ENSG00000149150 Slc43a1 (MGI:1931352) -chr11 57528463 57542504 11q12.1-q12.3 11q12.1 602251 TIMM10, TIM10A, TIM10 Translocase of inner mitochondrial membrane 10 TIMM10 26519 ENSG00000134809 Timm10 (MGI:1353429) -chr11 57537594 57550271 11q12.1 11q12.1 613664 SMTNL1, CHASM Smoothelin-like 1 SMTNL1 219537 ENSG00000214872 Smtnl1 (MGI:1915928) -chr11 57551661 57567934 11q12 11q12.1 603890 UBE2L6, UBCH8 Ubiquitin-conjugating enzyme E2L 6 UBE2L6 9246 ENSG00000156587 Ube2l6 (MGI:1914500) -chr11 57597684 57614847 11q11-q13.1 11q12.1 606860 C1NH, HAE1, HAE2, SERPING1 Complement component-1 inhibitor SERPING1 710 ENSG00000149131 Angioedema, hereditary, 1 and 2, 106100 (3), Autosomal dominant, Autosomal recessive; Complement component 4, partial deficiency of, 120790 (3), Autosomal dominant Serping1 (MGI:894696) -chr11 57641197 57641285 11q12 11q12.1 610175 MIR130A, MIRN130A Micro RNA 130A MIR130A 406919 ENSG00000208009 Mir130a (MGI:2676816) -chr11 57645086 57649911 11q12.1 11q12.1 609725 YPEL4 Yippee-like 4 YPEL4 219539 ENSG00000166793 Ypel4 (MGI:3605071) -chr11 57657761 57661864 11q12.1 11q12.1 608757 CLP1, HEAB, PCH10 Cleavage and polyadenylation factor I subunit 1, yeast, homolog of CLP1 10978 ENSG00000172409 Pontocerebellar hypoplasia, type 10, 615803 (3), Autosomal recessive Clp1 (MGI:2138968) -chr11 57668039 57701186 11q12.1 11q12.1 614586 ZDHHC5, DHHC5, ZNF375, KIAA1748 Zinc finger DHHC domain-containing protein 5 ZDHHC5 25921 ENSG00000156599 Zdhhc5 (MGI:1923573) -chr11 57703708 57712322 11q12.1 11q12.1 612385 MED19 Mediator complex subunit 19 MED19 219541 ENSG00000156603 Med19 (MGI:1914234) -chr11 57712592 57740972 11cen-q22.3 11q12.1 616715 TMX2, NEDMCMS Thioredoxin-related transmembrane protein 2 TMX2 51075 ENSG00000213593 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, 618730 (3), Autosomal recessive Tmx2 (MGI:1914208) -chr11 57741490 57743549 11q12.1 11q12.1 607914 SELENOH, SELH Selenoprotein H SELENOH 280636 ENSG00000211450 Selenoh (MGI:1919907) -chr11 57761801 57819539 11q11 11q12.1 601045 CTNND1, CTNND, BCDS2 Catenin (cadherin-associated protein), delta 1 CTNND1 1500 ENSG00000198561 Blepharocheilodontic syndrome 2, 617681 (3), Autosomal dominant Ctnnd1 (MGI:105100) -chr11 58526870 58578238 11q12.1 11q12.1 605390 LPXN Leupaxin LPXN 9404 ENSG00000110031 Lpxn (MGI:2147677) -chr11 58579062 58621549 11q12.1 11q12.1 619289 ZFP91, DSM8 Zinc finger protein 91, atypical E3 ubiquitin ligase ZFP91 80829 ENSG00000186660 Zfp91 (MGI:104854) -chr11 58622664 58625732 11q12.2 11q12.1 118945 CNTF Ciliary neurotrophic factor CNTF 1270 ENSG00000242689 Cntf (MGI:88439) -chr11 58708756 58731942 11q12.1 11q12.1 607424 GLYAT, ACGNAT, CAT Glycine-N-acyltransferase GLYAT 10249 ENSG00000149124 Keg1,Glyat (MGI:2147502,MGI:1928492) -chr11 58834064 58905839 11q12.1 11q12.1 614762 GLYATL2 Glycine N-acyltransferase-like 2 GLYATL2 219970 ENSG00000156689 -chr11 58905480 58957061 11q12.1 11q12.1 614761 GLYATL1 Glycine-N-acyltransferase-like 1 GLYATL1 92292 ENSG00000166840 -chr11 59107236 59127411 11q12.1 11q12.1 615584 FAM111B, POIKTMP Family with sequence similarity 111, member B FAM111B 374393 ENSG00000189057 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3), Autosomal dominant -chr11 59142855 59155038 11q12.1 11q12.1 615292 FAM111A, KIAA1895, KCS2, GCLEB Family with sequence similarity 111, member A FAM111A 63901 ENSG00000166801 Kenny-Caffey syndrome, type 2, 127000 (3), Autosomal dominant; Gracile bone dysplasia, 602361 (3), Autosomal dominant Fam111a (MGI:1915508) -chr11 59171429 59208587 11q12.1 11q12.1 616110 DTX4, RNF155, KIAA0937 Deltex E3 ubiquitin ligase 4 DTX4 23220 ENSG00000110042 Dtx4 (MGI:2672905) -chr11 59208509 59212926 11q12.1 11q12.1 610390 MPEG1, MPG1, IMD77 Macrophage expressed gene 1 MPEG1 219972 ENSG00000197629 Immunodeficiency 77, 619223 (3), Autosomal dominant Pfpl,Mpeg1 (MGI:1333743,MGI:1860266) -chr11 59358894 59371713 11q12.1 11q12.1 615702 OR5AN1 Olfactory receptor, family 5, subfamily AN, member 1 OR5AN1 390195 ENSG00000176495 Olfr235,Olfr1431,Olfr1434,Olfr1436,Olfr1437,Olfr262 (MGI:3031268,MGI:3030096,MGI:3030069,MGI:3031265,MGI:3031270,MGI:3031271) -chr11 59574397 59615773 11q12.1 11q12.1 167040 OSBP Oxysterol-binding protein OSBP 5007 ENSG00000110048 Osbp (MGI:97447) -chr11 59636715 59669036 11q12.1 11q12.1 614660 PATL1, PAT1B PAT1 homolog 1, processing body mRNA decay factor PATL1 219988 ENSG00000166889 Patl1 (MGI:2147679) -chr11 59755373 59805878 11q12.1 11q12.1 600876 STX3, STX3A, DIAR12, MVID2, RDMVID Syntaxin 3 STX3 6809 ENSG00000166900 Retinal dystrophy and microvillus inclusion disease, 619446 (3), Autosomal recessive; Diarrhea 12, with microvillus atrophy, 619445 (3), Autosomal recessive Stx3 (MGI:103077) -chr11 59806139 59810777 11q12-q13.1 11q12.1 611829 MRPL16 Mitochondrial ribosomal protein L16 MRPL16 54948 ENSG00000166902 Mrpl16 (MGI:2137219) -chr11 59829267 59845500 11q13 11q12.1 609342 CBLIF, GIF, IF Cobalamin-binding intrinsic factor (gastric intrinsic factor) CBLIF 2694 ENSG00000134812 Intrinsic factor deficiency, 261000 (3), Autosomal recessive Cblif (MGI:1202394) -chr11 59852807 59866486 11q11-q12 11q12.1 189905 TCN1, TC1 Transcobalamin I TCN1 6947 ENSG00000134827 -chr11 60056664 60071115 11q12-q13 11q12.1 606498 MS4A3, HTM4, CD20L Membrane-spanning 4-domains, subfamily A, member 3 MS4A3 932 ENSG00000149516 Ms4a3 (MGI:2158468) -chr11 60088260 60098466 11q13 11q12.1 147138 MS4A2, FCER1B Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for, beta polypeptide) MS4A2 2206 ENSG00000149534 {Atopy, susceptibility to}, 147050 (3), Autosomal dominant Ms4a2 (MGI:95495) -chr11 60171606 60184665 11q12-q13 11q12.2 606548 MS4A6A, MS4A6 Membrane-spanning 4-domains, subfamily A, member 6A MS4A6A 64231 ENSG00000110077 Ms4a6c,Ms4a6d,Ms4a6b (MGI:2385644,MGI:1917024,MGI:1916024) -chr11 60200269 60243136 11q12-q13.1 11q12.2 608401 MS4A4E Membrane-spanning 4-domains, subfamily A, member 4E MS4A4E 643680 ENSG00000214787 -chr11 60280665 60308969 11q12-q13 11q12.2 606547 MS4A4A, MS4A4 Membrane-spanning 4-domains, subfamily A, member 4A MS4A4A 51338 ENSG00000110079 Ms4a4c,Ms4a4d,Ms4a4a,Ms4a4b (MGI:1927656,MGI:3643932,MGI:1913857,MGI:1913083) -chr11 60327254 60349071 11q12-q13.1 11q12.2 608402 MS4A6E Membrane-spanning 4-domains, subfamily A, member 6E MS4A6E 245802 ENSG00000166926 Ms4a6c,Ms4a6d,Ms4a6b (MGI:2385644,MGI:1917024,MGI:1916024) -chr11 60378531 60395947 11q12-q13 11q12.2 606502 MS4A7, CFFM4 Membrane-spanning 4-domains, subfamily A, member 7 MS4A7 58475 ENSG00000166927 Ms4a7 (MGI:1918846) -chr11 60429571 60447791 11q12-q13 11q12.2 606499 MS4A5, TETM4, CD20L2 Membrane-spanning 4-domains, subfamily A, member 5 MS4A5 64232 ENSG00000166930 Ms4a5 (MGI:2670985) -chr11 60455846 60470751 11q13 11q12.2 112210 MS4A1, CD20, CVID5 Membrane-spanning 4-domains, subfamily A, member 1 MS4A1 931 ENSG00000156738 mutation identified in 1 CVID5 patient ?Immunodeficiency, common variable, 5, 613495 (3), Autosomal recessive Ms4a1 (MGI:88321) -chr11 60492742 60507429 11q12-q13 11q12.2 606550 MS4A12 Membrane-spanning 4-domains, subfamily A, member 12 MS4A12 54860 ENSG00000071203 Ms4a12 (MGI:2685812) -chr11 60699611 60715806 11q12-q13 11q12.2 606549 MS4A8B Membrane-spanning 4-domains, subfamily A, member 8B MS4A8 83661 ENSG00000166959 Ms4a8a (MGI:1927657) -chr11 60785331 60801304 11q12-q13.1 11q12.2 608403 MS4A10 Membrane-spanning 4-domains, subfamily A, member 10 MS4A10 341116 ENSG00000172689 Ms4a10 (MGI:1917076) -chr11 60842112 60851080 11q12 11q12.2 611293 CCDC86, CYCLON Coiled-coil domain-containing protein 86 CCDC86 79080 ENSG00000110104 Ccdc86 (MGI:1277220) -chr11 60850932 60855949 11q12.2 11q12.2 604837 PTGDR2, GPR44 Prostaglandin D2 receptor 2 PTGDR2 11251 ENSG00000183134 Ptgdr2 (MGI:1330275) -chr11 60867541 60875692 11q12.2 11q12.2 195000 ZP1, OOMD1 Zona pellucida glycoprotein 1 ZP1 22917 ENSG00000149506 Oocyte maturation defect 1, 615774 (3), Autosomal recessive Zp1 (MGI:103073) -chr11 60890546 60906584 11q12.2 11q12.2 608330 PRPF19, PRP19, PSO4, NMP200 Pre-mRNA processing factor 19 PRPF19 27339 ENSG00000110107 Prpf19 (MGI:106247) -chr11 60914157 60923442 11q12.2 11q12.2 619168 TMEM109, MG23 Transmembrane protein 109 TMEM109 79073 ENSG00000110108 Tmem109 (MGI:1915789) -chr11 60924459 60937158 11q12.2 11q12.2 617363 TMEM132A, KIAA1583 Transmembrane protein 132A TMEM132A 54972 ENSG00000006118 Tmem132a (MGI:2147810) -chr11 60937083 60952175 11q12 11q12.2 610408 SLC15A3, PHT2 Solute carrier family 15 (oligopeptide transporter), member 3 SLC15A3 51296 ENSG00000110446 Slc15a3 (MGI:1929691) -chr11 60971677 61020376 Chr.11 11q12.2 186720 CD6, TP120 CD6 antigen CD6 923 ENSG00000013725 Cd6 (MGI:103566) -chr11 61093962 61127851 11q13 11q12.2 153340 CD5, LEU1 CD5 antigen (p56-62) CD5 921 ENSG00000110448 Cd5 (MGI:88340) -chr11 61130256 61161425 11q12.2 11q12.2 610038 VPS37C VPS37C subunit of ESCRT-I VPS37C 55048 ENSG00000167987 Vps37c (MGI:2147661) -chr11 61222346 61231693 11q13 11q12.2 169720 PGA4 Pepsinogen A4 PGA4 643847 ENSG00000229183 Pga5 (MGI:1915935) -chr11 61241174 61251443 11q13 11q12.2 169730 PGA5 Pepsinogen A5 PGA5 5222 ENSG00000256713 pter-5'HRAS--5'INS--cen Pga5 (MGI:1915935) -chr11 61258285 61295315 11q11 11q12.2 611115 VWC1, URG11 von Willebrand factor C and EGF domain-containing protein VWCE 220001 ENSG00000167992 Vwce (MGI:1919018) -chr11 61299450 61333104 11q12.2 11q12.2 600045 DDB1, WHIKERS Damage-specific DNA binding protein 1, 127kD DDB1 1642 ENSG00000167986 White-Kernohan syndrome, 619426 (3), Autosomal dominant Ddb1 (MGI:1202384) -chr11 61333227 61353425 11q12.2 11q12.2 615844 TKFC, DAK, TKFCD Triokinase and FMN cyclase TKFC 26007 ENSG00000149476 Triokinase and FMN cyclase deficiency syndrome, 618805 (3), Autosomal recessive Tkfc (MGI:2385084) -chr11 61348744 61362282 11q12.2 11q12.2 618757 CYB561A3, LCYTB, CYBASC3 Cytochrome b561 family, member A3 CYB561A3 220002 ENSG00000162144 Cyb561a3 (MGI:2686925) -chr11 61362360 61378223 11q12.2 11q12.2 614459 TMEM138, JBTS16 Transmembrane protein 138 TMEM138 51524 ENSG00000149483 Joubert syndrome 16, 614465 (3), Autosomal recessive Tmem138 (MGI:1920232) -chr11 61392586 61398845 11q12.2 11q12.2 613277 TMEM216, JBTS2, CORS2, MKS2 Transmembrane protein 216 TMEM216 51259 ENSG00000187049 Joubert syndrome 2, 608091 (3), Autosomal recessive; Meckel syndrome 2, 603194 (3), Autosomal recessive Tmem216 (MGI:1920020) -chr11 61430123 61446732 11q13.1 11q12.2 613019 SDHAF2, SDH5, PGL2 Succinate dehydrogenase complex assembly factor 2 SDHAF2 54949 ENSG00000167985 Paragangliomas 2, 601650 (3), Autosomal dominant Sdhaf2 (MGI:1913322) -chr11 61481119 61490927 11q12.2 11q12.2 619047 PPP1R32, IIIG9, C11orf66 Protein phosphatase 1, regulatory subunit 32 PPP1R32 220004 ENSG00000162148 Ppp1r32 (MGI:1915002) -chr11 61513713 61588403 11q13 11q12.2 604146 SYT7 Synaptotagmin 7 SYT7 9066 ENSG00000011347 Syt7 (MGI:1859545) -chr11 61680183 61747001 11q12.2 11q12.2 614015 DAGLA, KIAA0659 Diacylglycerol lipase, alpha DAGLA 747 ENSG00000134780 Dagla (MGI:2677061) -chr11 61752616 61788517 11q12.2 11q12.2 608329 MYRF, C11orf9, KIAA0954, MMERV, CUGS Myelin regulatory factor MYRF 745 ENSG00000124920 Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3), Autosomal dominant; Cardiac-urogenital syndrome, 618280 (3), Autosomal dominant Myrf (MGI:2684944) -chr11 61788948 61792598 11q12 11q12.2 617615 TMEM258, C11orf10 Transmembrane protein 258 TMEM258 746 ENSG00000134825 Tmem258 (MGI:1916288) -chr11 61792910 61797237 11q12 11q12.2 600393 FEN1 Flap structure-specific endonuclease 1 FEN1 2237 ENSG00000168496 Fen1 (MGI:102779) -chr11 61799626 61817002 11q12-q13.1 11q12.2 606148 FADS1 Fatty acid desaturase 1 FADS1 3992 ENSG00000149485 Fads1 (MGI:1923517) -chr11 61816202 61867353 11q12-q13.1 11q12.2 606149 FADS2 Fatty acid desaturase 2 FADS2 9415 ENSG00000134824 Fads2 (MGI:1930079) -chr11 61873525 61892223 11q12-q13.1 11q12.2 606150 FADS3 Fatty acid desaturase 3 FADS3 3995 ENSG00000221968 Fads3 (MGI:1928740) -chr11 61900000 66100000 11q12-q13.1 612795 PURAQTL1 Polyunsaturated fatty acids plasma level QTL1 100302559 associated with rs174537 [Polyunsaturated fatty acids plasma level QTL1], 612795 (2) -chr11 61900000 63600000 11q12 608687 SCA20, DUP11q12, C11DUPq12 Spinocerebellar ataxia 20 (chromosome 11q12 duplication syndrome, 260kb) contiguous gene duplication syndrome Spinocerebellar ataxia 20, 608687 (4), Autosomal dominant -chr11 61946721 61965514 11q13 11q12.3 607854 BEST1, VMD2, ARB, RP50 Bestrophin 1 BEST1 7439 ENSG00000167995 mutation identified in 1 MRCS family Macular dystrophy, vitelliform, 2, 153700 (3), Autosomal dominant; ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, 193220 (3), Autosomal dominant; Retinitis pigmentosa-50, 613194 (3); Retinitis pigmentosa, concentric, 613194 (3); Vitreoretinochoroidopathy, 193220 (3), Autosomal dominant; Bestrophinopathy, autosomal recessive, 611809 (3) Best1 (MGI:1346332) -chr11 61964284 61967633 11q12-q13 11q12.3 134770 FTH1, FTHL6, HFE5 Ferritin, heavy polypeptide 1 FTH1 2495 ENSG00000167996 mutation identified in 1 family ?Hemochromatosis, type 5, 615517 (3), Autosomal dominant Fth1 (MGI:95588) -chr11 62123997 62155473 11q12.3 11q12.3 604411 INCENP Inner centromere protein INCENP 3619 ENSG00000149503 Incenp (MGI:1313288) -chr11 62190215 62193538 11q12.3 11q12.3 615060 SCGB1D1, LPNA Secretoglobin, family 1D, member 1 SCGB1D1 10648 ENSG00000168515 previously mapped to 15q12-q13 -chr11 62208672 62213942 11q12.3 11q12.3 604398 SCGB2A1, MGB2, LPNC Secretoglobin, family 2A, member 1 (mammaglobin 2) SCGB2A1 4246 ENSG00000124939 Scgb2a2 (MGI:3780828) -chr11 62242238 62244811 11q12.3 11q12.3 615061 SCGB1D2, LPNB Secretoglobin, family 1D, member 2 SCGB1D2 10647 ENSG00000124935 previously mapped to 10q23 -chr11 62270129 62273159 11q12.3-q13.1 11q12.3 605562 MGB1, SCGB2A2 Mammaglobin 1 (secretoglobin, family 2A, member 2) SCGB2A2 4250 ENSG00000110484 Scgb2a2 (MGI:3780828) -chr11 62296280 62299074 11q12.3 11q12.3 615062 SCGB1D4, IIS Secretoglobin, family 1D, member 4 SCGB1D4 404552 ENSG00000197745 -chr11 62337429 62401400 11q12.3 11q12.3 609212 ASRGL1, ALP Asparaginase-like protein 1 ASRGL1 80150 ENSG00000162174 Asrgl1 (MGI:1913764) -chr11 62419032 62423194 11q12.3-q13.1 11q12.3 192020 SCGB1A1, UGB, CC10, CCSP Secretoglobin, family 1A, member 1 (uteroglobin) SCGB1A1 7356 ENSG00000149021 Scgb1a1 (MGI:98919) -chr11 62433543 62546805 11q12-q13 11q12.3 103390 AHNAK AHNAK nucleoprotein (desmoyokin) AHNAK 79026 ENSG00000124942 Ahnak (MGI:1316648) -chr11 62559595 62573890 11q12.3 11q12.3 130593 EEF1G, EF1G Eukaryotic translation elongation factor 1, gamma EEF1G 1937 ENSG00000254772 Eef1g (MGI:1914410) -chr11 62575051 62591522 11q12.3 11q12.3 610641 TUT1, PAPD2 Terminal uridylyl transferase 1, U6 snRNA-specific TUT1 64852 ENSG00000149016 Tut1 (MGI:1917294) -chr11 62593213 62601864 11q12-q13.1 11q12.3 603947 MTA2, MTA1L1 Metastasis-associated protein 2 MTA2 9219 ENSG00000149480 Mta2 (MGI:1346340) -chr11 62602217 62612774 11q12.3 11q12.3 618118 EML3, EMAP3, EMAP95 Echinoderm microtubule-associated protein-like 3 EML3 256364 ENSG00000149499 Eml3 (MGI:2387612) -chr11 62613256 62615115 11q13 11q12.3 180721 ROM1, ROSP1, RP7 Rod outer segment membrane protein-1 ROM1 6094 ENSG00000149489 digenic RP with RDS Retinitis pigmentosa 7, digenic form, 608133 (3), Digenic dominant, Autosomal dominant, Autosomal recessive Rom1 (MGI:97998) -chr11 62615295 62621985 11q12-q13 11q12.3 606374 B3GAT3, GLCATI, JDSCD Beta-1,3-glucuronyltransferase 3 B3GAT3 26229 ENSG00000149541 pseudogene on chr.3 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3), Autosomal recessive B3gat3 (MGI:1919977) -chr11 62624828 62646612 11q13-qter 11q12.3 104160 GANAB, PKD3 Neutral alpha-glucosidase AB GANAB 23193 ENSG00000089597 Polycystic kidney disease 3, 600666 (3), Autosomal dominant Ganab (MGI:1097667) -chr11 62646847 62653301 11q12.3 11q12.3 611349 INTS5, INT5, KIAA1698 Integrator complex subunit 5 INTS5 80789 ENSG00000185085 Ints5 (MGI:1923578) -chr11 62665252 62668107 11q12.3 11q12.3 617897 CSKMT, METTL12 Citrate synthase lysine methyltransferase CSKMT 751071 ENSG00000214756 -chr11 62671672 62673685 11q12.3 11q12.3 616097 UQCC3, C11orf83, MC3DN9 Ubiquinol-cytochrome C reductase complex assembly factor 3 UQCC3 790955 ENSG00000204922 mutation identified in 1 MC3DN9 patient ?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3), Autosomal recessive Uqcc3 (MGI:2147553) -chr11 62676499 62679115 11q12.3 11q12.3 616378 UBXN1, SAKS1 UBX domain protein 1 UBXN1 51035 ENSG00000162191 Ubxn1 (MGI:1289301) -chr11 62690261 62709536 11q13 11q12.3 606158 BSCL2, SPG17, HMN5, PELD, HMN5C Seipin BSCL2 26580 ENSG00000168000 Lipodystrophy, congenital generalized, type 2, 269700 (3), Autosomal recessive; Neuropathy, distal hereditary motor, type VC, 619112 (3), Autosomal dominant; Silver spastic paraplegia syndrome, 270685 (3), Autosomal dominant; Encephalopathy, progressive, with or without lipodystrophy, 615924 (3), Autosomal recessive Bscl2 (MGI:1298392) -chr11 62707254 62709205 11q12.3 11q12.3 608941 GNG3 Guanine nucleotide-binding protein, gamma-3 GNG3 2785 ENSG00000162188 Gng3 (MGI:102704) -chr11 62761579 62766709 11q13.1 11q12.3 602013 POLR2G Polymerase (RNA) II (DNA directed) polypeptide G POLR2G 5436 ENSG00000168002 Polr2g (MGI:1914960) -chr11 62771395 62787341 11q12.3 11q12.3 602946 TAF6L, PAF65A TAF6-like RNA polymerase II TAF6L 10629 ENSG00000162227 Taf6l (MGI:2444957) -chr11 62792124 62805442 11q12-q13 11q12.3 602647 NXF1, TAP, MEX67 Nuclear RNA export factor 1 NXF1 10482 ENSG00000162231 Nxf1 (MGI:1858330) -chr11 62806859 62832052 11q12.3 11q12.3 603189 STX5, STX5A Syntaxin 5 STX5 6811 ENSG00000162236 Stx5a (MGI:1928483) -chr11 62832904 62841808 11q12.3 11q12.3 617947 WDR74 WD repeat-containing protein 74 WDR74 54663 ENSG00000133316 Wdr74 (MGI:2147427) -chr11 62851977 62855884 11q13 11q12.3 603222 UHG, U22HG U22 host gene SNHG1 23642 ENSG00000255717 -chr11 62852909 62853034 11q13 11q12.3 603223 RNU22 RNA, U22 small nucleolar SNORD22 9304 ENSG00000277194 -chr11 62853325 62853392 11q13 11q12.3 603230 SNORD31, RNU31 Small nucleolar RNA, C/D box 31 SNORD31 9298 -chr11 62853662 62853731 11q13 11q12.3 603229 RNU30 RNA, U30 small nucleolar SNORD30 9299 ENSG00000277846 -chr11 62853903 62853967 11q13 11q12.3 603228 RNU29 RNA, U29 small nucleolar SNORD29 9297 -chr11 62854620 62854694 11q13 11q12.3 603227 RNU28 RNA, U28 small nucleolar SNORD28 9300 ENSG00000274544 -chr11 62855011 62855082 11q13 11q12.3 603226 RNU27 RNA, U27 small nucleolar SNORD27 9301 ENSG00000275996 -chr11 62855291 62855365 11q13 11q12.3 603225 RNU26 RNA, U26 small nucleolar SNORD26 9302 ENSG00000276788 -chr11 62855564 62855630 11q13 11q12.3 603224 RNU25 RNA, U25 small nucleolar SNORD25 9303 ENSG00000275043 -chr11 62856108 62888859 11q13 11q12.3 158070 SLC3A2, MDU1, NACAE Solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 SLC3A2 6520 ENSG00000168003 prob. 11q13 Slc3a2 (MGI:96955) -chr11 62908674 62921860 11q13 11q12.3 118510 CHRM1 Cholinergic receptor, muscarinic, 1 CHRM1 1128 ENSG00000168539 Chrm1 (MGI:88396) -chr11 62976596 62984966 11q13.1-q13.2 11q12.3 607582 SLC22A6, OAT1, PAHT Solute carrier family 22 (organic anion transporter), member 6 SLC22A6 9356 ENSG00000197901 Slc22a6 (MGI:892001) -chr11 62992823 63015840 Chr.11 11q12.3 607581 SLC22A8, OAT3 Solute carrier family 22 (organic anion transporter), member 8 SLC22A8 9376 ENSG00000149452 Slc22a8 (MGI:1336187) -chr11 63079939 63144220 11q12.3 11q12.3 611698 SLC22A24 Solute carrier family 22, member 24 SLC22A24 283238 ENSG00000197658 -chr11 63158436 63243598 11q12.3 11q12.3 610792 UST6 Organic anion transporter UST6 SLC22A25 387601 ENSG00000196600 Slc22a26,Slc22a19,Slc22a29,Slc22a28,Slc22a27,Slc22a30 (MGI:2442750,MGI:3645714,MGI:2385316,MGI:3605624,MGI:3042283,MGI:2442751) -chr11 63268256 63311982 11q12.3 11q12.3 607580 SLC22A10, OAT5 Solute carrier family 22 (organic anion/cation transporter), member 10 SLC22A10 387775 ENSG00000184999 Slc22a19,Slc22a29,Slc22a28,Slc22a27,Slc22a30 (MGI:2442750,MGI:3645714,MGI:3605624,MGI:3042283,MGI:2442751) -chr11 63368870 63410877 11q12.3 11q12.3 607579 SLC22A9, OAT4, UST3 Solute carrier family 22 (organic anion/cation transporter), member 9 SLC22A9 114571 ENSG00000149742 Slc22a26,Slc22a19,Slc22a29,Slc22a28,Slc22a27,Slc22a30 (MGI:2442750,MGI:3645714,MGI:2385316,MGI:3605624,MGI:3042283,MGI:2442751) -chr11 63461403 63491202 11q12.3 11q12.3 611474 PLAAT5, HRASLS5, RLP1, HRLP5 Phospholipase A and acyltransferase 5 PLAAT5 117245 ENSG00000168004 Plaat5 (MGI:1913977) -chr11 63506051 63516771 11q13 11q12.3 606096 LGALS12 Lectin, galactoside-binding, soluble, 12 LGALS12 85329 ENSG00000133317 Lgals12 (MGI:1929094) -chr11 63536807 63546457 11q12.3 11q12.3 605092 PLAAT4, RARRES3, TIG3 Phospholipase A and acyltransferase 4 PLAAT4 5920 ENSG00000133321 -chr11 63552758 63565071 11q12.3 11q12.3 613866 PLAAT2, HRASLS2 Phospholipase A and acyltransferase 2 PLAAT2 54979 ENSG00000133328 -chr11 63574461 63616925 11q12.3-q13.1 11q12.3-q13.1 613867 PLAAT3, PLA2G16, HRASLS3, HRSL3, HREV107 Phospholipase A and acyltransferase 3 PLAAT3 11145 ENSG00000176485 Plaat3 (MGI:2179715) -chr11 63624081 63671973 11q13.1 11q13.1 609369 ATL3, HSN1F Atlastin GTPase 3 ATL3 25923 ENSG00000184743 Neuropathy, hereditary sensory, type IF, 615632 (3), Autosomal dominant Atl3 (MGI:1924270) -chr11 63681314 63759890 11q13 11q13.1 604249 RTN3, NSPL2 Reticulon 3 RTN3 10313 ENSG00000133318 pseudogene on chr.4 Rtn3 (MGI:1339970) -chr11 63759891 63768774 11q13 11q13.1 615699 ZFTA, C11orf95 Zinc finger translocation-associated protein ZFTA 65998 ENSG00000188070 Zfta (MGI:1919667) -chr11 63838954 63911019 11q12-q13 11q13.1 600526 MARK2, EMK1 MAP/microtubule affinity-regulating kinase 2 MARK2 2011 ENSG00000072518 Mark2 (MGI:99638) -chr11 63911229 63917163 11q13.1 11q13.1 616019 RCOR2 Rest corepressor 2 RCOR2 283248 ENSG00000167771 Rcor2 (MGI:1859854) -chr11 63974619 63976542 11q13 11q13.1 123870 COX8A, MC4DN15 Cytochrome c oxidase, subunit VIIIA COX8A 1351 ENSG00000176340 mutation identified in 1 MC4DN15 patient ?Mitochondrial complex IV deficiency, nuclear type 15, 619059 (3), Autosomal recessive Cox8a (MGI:105959) -chr11 63986437 63998411 11q13.1 11q13.1 608337 OTUB1, OTU1, OTB1 OTU domain-containing ubiquitin aldehyde-binding protein 1 OTUB1 55611 ENSG00000167770 Otub1 (MGI:2147616) -chr11 63998553 64166651 11q13.1 11q13.1 610400 MACROD1, LRP16 Macro domain-containing 1 MACROD1 28992 ENSG00000133315 Macrod1 (MGI:2147583) -chr11 64035930 64127288 11q12-q13 11q13.1 604806 FLRT1 Fibronectin-like domain-containing leucine-rich transmembrane protein-1 FLRT1 23769 ENSG00000126500 Flrt1 (MGI:3026647) -chr11 64185271 64204542 11q13 11q13.1 605063 STIP1, HOP Stress-induced phosphoprotein 1 STIP1 10963 ENSG00000168439 Stip1 (MGI:109130) -chr11 64205919 64223890 11q12 11q13.1 607901 FERMT3, KIND3, URP2, MIG2B Fermitin family, member 3 FERMT3 83706 ENSG00000149781 Leukocyte adhesion deficiency, type III, 612840 (3), Autosomal recessive Fermt3 (MGI:2147790) -chr11 64223798 64226223 11q13 11q13.1 610470 TRPT1 Transfer RNA phosphotransferase 1 TRPT1 83707 ENSG00000149743 Trpt1 (MGI:1333115) -chr11 64230431 64234280 11q13 11q13.1 604189 DANJC4, HSPF2 DnaJ, E. coli, homolog of, subfamily C, member 4 (heat-shock 40kD protein 2) DNAJC4 3338 ENSG00000110011 Dnajc4 (MGI:1927346) -chr11 64234583 64239263 11q13 11q13.1 601398 VEGFB, VRF Vascular endothelial growth factor B VEGFB 7423 ENSG00000173511 Vegfb (MGI:106199) -chr11 64241094 64244134 11q13.1-q13.3 11q13.1 186946 FKBP2 FK506-binding protein-2, 13kD FKBP2 2286 ENSG00000173486 Fkbp2 (MGI:95542) -chr11 64244478 64246942 11q13 11q13.1 601140 PPP1R14B, PLCB3N, PNG Protein phosphatase 1, regulatory subunit 14B PPP1R14B 26472 ENSG00000173457 Ppp1r14b (MGI:107682) -chr11 64251529 64269451 11q13 11q13.1 600230 PLCB3, SMDCD Phospholipase C, beta 3 (phosphatidylinositol-specific) PLCB3 5331 ENSG00000149782 within 900kb of MEN1 Spondylometaphyseal dysplasia with corneal dystrophy, 618961 (3), Autosomal recessive Plcb3 (MGI:104778) -chr11 64269827 64284703 11q13.1 11q13.1 603167 BAD, BCL2L8 BCL1 antagonist of cell death BAD 572 ENSG00000002330 Bad (MGI:1096330) -chr11 64291301 64300030 11q13 11q13.1 605720 KCNK4, TRAAK, FHEIG Potassium channel, subfamily K, member 4 KCNK4 50801 ENSG00000182450 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 (3), Autosomal dominant Kcnk4 (MGI:1298234) -chr11 64300357 64304769 11q13.1 11q13.1 617511 CATSPERZ, TEX40 Cation channel, sperm-associated, auxiliary subunit zeta CATSPERZ 25858 ENSG00000219435 Catsperz (MGI:1914327) -chr11 64305523 64316742 11q12 11q13.1 601998 ESRRA, ESRL1 Estrogen-related receptor, alpha ESRRA 2101 ENSG00000173153 Esrra (MGI:1346831) -chr11 64316459 64318595 11q13.1 11q13.1 618630 TRMT112 tRNA methyltransferase subunit 11-2 TRMT112 51504 ENSG00000173113 Trmt112,Trmt112-ps2 (MGI:1914924,MGI:3651720) -chr11 64318120 64321810 11q13 11q13.1 606583 PRDX5, AOEB166 Peroxiredoxin 5 PRDX5 25824 ENSG00000126432 Prdx5 (MGI:1859821) -chr11 64340202 64357533 11q13.1 11q13.1 611205 CCDC88B, GIPIE Coiled-coil domain-containing protein 88B CCDC88B 283234 ENSG00000168071 Ccdc88b (MGI:1925567) -chr11 64359161 64372214 11q13.1 11q13.1 603606 RPS6KA4, RSKB, MSK2 Ribosomal protein S6 kinase A4 RPS6KA4 8986 ENSG00000162302 Rps6ka4 (MGI:1930076) -chr11 64555846 64572874 11q13 11q13.1 607097 SLC22A11, OAT4 Solute carrier family 22 (organic anion/cation transporter), member 11 SLC22A11 55867 ENSG00000168065 -chr11 64591218 64603249 11q13 11q13.1 607096 SLC22A12, OAT4L, URAT1 Solute carrier family 22 (urate transporter), member 12 SLC22A12 116085 ENSG00000197891 Hypouricemia, renal, 220150 (3), Autosomal recessive Slc22a12 (MGI:1195269) -chr11 64606173 64723196 11q13 11q13.1 600566 NRXN2 Neurexin 2 NRXN2 9379 ENSG00000110076 Nrxn2 (MGI:1096362) -chr11 64726910 64745480 11q13 11q13.1 605577 RASGRP2, CDC25L Ras guanyl nucleotide-releasing protein 2 RASGRP2 10235 ENSG00000068831 mutation identified in 1 BDPLT18 family ?Bleeding disorder, platelet-type, 18, 615888 (3), Autosomal recessive Rasgrp2 (MGI:1333849) -chr11 64746388 64760714 11q13 11q13.1 608455 PYGM Phosphorylase, glycogen, muscle PYGM 5837 ENSG00000068976 McArdle disease, 232600 (3), Autosomal recessive Pygm (MGI:97830) -chr11 64764605 64778768 11q13 11q13.1 601516 SF1, ZNF162, D11S636, ZFM1 Splicing factor 1 (zinc finger protein-162) SF1 7536 ENSG00000168066 Sf1 (MGI:1095403) -chr11 64784917 64803247 11q13 11q13.1 603166 MAP4K2, RAB8IP, GCK Mitogen-activating protein kinase kinase kinase kinase 2 (RAB8-interacting protein; germinal center kinase) MAP4K2 5871 ENSG00000168067 Map4k2 (MGI:1346883) -chr11 64803513 64811293 11q13 11q13.1 613733 MEN1 Menin MEN1 4221 ENSG00000133895 linked distal to PYGM Lipoma, somatic (3); Angiofibroma, somatic (3); Multiple endocrine neoplasia 1, 131100 (3), Autosomal dominant; Carcinoid tumor of lung (3); Adrenal adenoma, somatic (3); Parathyroid adenoma, somatic (3) Men1 (MGI:1316736) -chr11 64823051 64844685 11q13 11q13.1 613991 CDC42BPG, MRCKG CDC42-binding protein kinase, gamma CDC42BPG 55561 ENSG00000171219 Cdc42bpg (MGI:2652845) -chr11 64851641 64879692 11q13 11q13.1 605888 EHD1 EH domain-containing 1 protein EHD1 10938 ENSG00000110047 Ehd1 (MGI:1341878) -chr11 64891136 64891245 11q13.1 11q13.1 610939 MIR192, MIRN192 Micro RNA 192 MIR192 406967 ENSG00000283926 Mir192 (MGI:2676856) -chr11 64891354 64891438 11q13.1 11q13.1 610941 MIR194-2, MIRN194-2 Micro RNA 194-2 MIR194-2 406970 ENSG00000284155 Mir194-2 (MGI:3618738) -chr11 64894545 64917240 11q13.1 11q13.1 616225 ATG2A, KIAA0404 Autophagy related 2A ATG2A 23130 ENSG00000110046 Atg2a (MGI:1916291) -chr11 64917552 64934477 11q13 11q13.1 601644 PPP2R5B Protein phosphatase-2, regulatory subunit B (B56), beta isoform PPP2R5B 5526 ENSG00000068971 Ppp2r5b (MGI:2388480) -chr11 64934470 64938130 11q13.1 11q13.1 609651 GPHA2, GPA2 Glycoprotein hormone, alpha-2 GPHA2 170589 ENSG00000149735 Gpha2 (MGI:2156541) -chr11 64938229 64972107 11q13.1 11q13.1 617130 MAJIN, C11orf85 Membrane-anchored junction protein MAJIN 283129 ENSG00000168070 Majin (MGI:1923913) -chr11 64987944 64996970 11q13.1 11q13.1 614983 BATF2, SARI Basic leucine zipper transcription factor, ATF-like 2 BATF2 116071 ENSG00000168062 Batf2 (MGI:1921731) -chr11 65014159 65022183 11q13 11q13.1 601175 ARL2, MRCS1 ADP ribosylation factor-like GTPase 2 ARL2 402 ENSG00000213465 mutation identified in 1 MRCS1 family ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1, 619082 (3), Autosomal dominant Arl2 (MGI:1928393) -chr11 65027438 65040571 11q13 11q13.1 605964 SNX15 Sorting nexin 15 SNX15 29907 ENSG00000110025 Snx15 (MGI:1916274) -chr11 65040932 65044827 11q13.1 11q13.1 618796 SAC3D1, SHD1 SAC3 domain-containing protein 1 SAC3D1 29901 ENSG00000168061 Sac3d1 (MGI:1913656) -chr11 65044817 65059019 11q12 11q13.1 602640 NAALADL1, I100 N-acetylated alpha-linked acidic dipeptidase-like 1 NAALADL1 10004 ENSG00000168060 Naaladl1 (MGI:2685810) -chr11 65061008 65084128 11q13.1 11q13.1 609374 CDCA5, SORORIN Cell division cycle-associated protein 5 (sororin) CDCA5 113130 ENSG00000146670 Cdca5 (MGI:1915099) -chr11 65084221 65088397 11q13 11q13.1 619397 ZFPL1 Zinc finger protein-like 1 ZFPL1 7542 ENSG00000162300 Zfpl1 (MGI:1891017) -chr11 65096213 65111861 11q13.1 11q13.1 615738 VPS51, ANG2, PCH13 VPS51 subunit of GARP complex VPS51 738 ENSG00000149823 Pontocerebellar hypoplasia, type 13, 618606 (3), Autosomal recessive Vps51 (MGI:1915755) -chr11 65111871 65116229 11q13 11q13.1 603414 TM7SF2, ANG1 Transmembrane 7 superfamily, member 2 TM7SF2 7108 ENSG00000149809 Tm7sf2 (MGI:1920416) -chr11 65116402 65117700 11q13 11q13.1 604575 ZNHIT2, C11orf5, FON Zinc finger HIT domain containing protein 2 ZNHIT2 741 ENSG00000174276 Znhit2 (MGI:1352481) -chr11 65120629 65122133 11q13 11q13.1 134690 FAU FAU ubiquitin like and ribosomal protein S30 fusion FAU 2197 ENSG00000149806 Gm9843,Fau (MGI:3708621,MGI:102547) -chr11 65122182 65127370 11q13 11q13.1 606866 MRPL49, NOF1 Mitochondrial ribosomal protein L49 MRPL49 740 ENSG00000149792 Mrpl49 (MGI:108180) -chr11 65127278 65135177 11q13 11q13.1 608046 SYVN1, HRD1, KIAA1810 Synovial apoptosis inhibitor 1 SYVN1 84447 ENSG00000162298 Syvn1 (MGI:1921376) -chr11 65170153 65173665 11q13.1 11q13.1 614030 SPDYC, RINGOC Speedy, xenopus, homolog of, C SPDYC 387778 ENSG00000204710 -chr11 65181372 65212005 11q13 11q13.1 114220 CAPN1, SPG76 Calpain, large polypeptide L1 CAPN1 823 ENSG00000014216 Spastic paraplegia 76, autosomal recessive, 616907 (3), Autosomal recessive Capn1 (MGI:88263) -chr11 65213839 65242756 11q13.1 11q13.1 611696 SLC22A20, OAT6 Solute carrier family 22, member 20 SLC22A20P 440044 ENSG00000197847 Slc22a20 (MGI:2685809) -chr11 65314865 65322416 11q12-q13 11q13.1 606132 CDC42EP2, CEP2, BORG1 CDC42 effector protein 2 CDC42EP2 10435 ENSG00000149798 Cdc42ep2 (MGI:1929744) -chr11 65333839 65354261 11q13 11q13.1 601671 DPF2, REQ, UBID4, CSS7 D4, zinc, and double PHD fingers family, member 2 DPF2 5977 ENSG00000133884 Coffin-Siris syndrome 7, 618027 (3), Autosomal dominant Dpf2 (MGI:109529) -chr11 65354750 65357612 11q13.1 11q13.1 619084 TIGD3 Tigger transposable element-derived gene 3 TIGD3 220359 ENSG00000173825 Tigd3 (MGI:2681860) -chr11 65375191 65383700 11q13.1 11q13.1 610825 SLC25A45 Solute carrier family 25, member 45 SLC25A45 283130 ENSG00000162241 Slc25a45 (MGI:2147731) -chr11 65386636 65413524 11q13.1 11q13.1 618337 FRMD8, ITAP FERM domain-containing protein 8 FRMD8 83786 ENSG00000126391 Frmd8 (MGI:1914707) -chr11 65422797 65445539 11q13.1 11q13.1 612769 NEAT1, TNCRNA Noncoding nuclear-enriched abundant transcript 1 NEAT1 283131 ENSG00000245532 Neat1 (MGI:1914211) -chr11 65497737 65506515 11q13.1 11q13.1 607924 MALAT1, PRO1073 Metastasis-associated lung adenocarcinoma transcript 1 MALAT1 378938 ENSG00000251562 fused with TFEB in renal tumors Malat1 (MGI:1919539) -chr11 65525080 65538709 11q13 11q13.1 607982 SCYL1, NTKL, SCAR21 SCY1-like 1 SCYL1 57410 ENSG00000142186 Spinocerebellar ataxia, autosomal recessive 21, 616719 (3), Autosomal recessive Scyl1 (MGI:1931787) -chr11 65538558 65558388 11q12 11q13.1 602090 LTBP3, LTBP2, DASS, GPHYSD3 Latent transforming growth factor beta binding protein-3 LTBP3 4054 ENSG00000168056 Dental anomalies and short stature, 601216 (3), Autosomal recessive; Geleophysic dysplasia 3, 617809 (3), Autosomal dominant Ltbp3 (MGI:1101355) -chr11 65570476 65571887 11q13.1 11q13.1 606044 ZNRD2, SSSCA1 Zinc ribbon domain containing 2 ZNRD2 10534 ENSG00000173465 Znrd2 (MGI:1913482) -chr11 65572537 65574189 11q13.1 11q13.1 616128 FAM89B, MTVR, LRAP25 Family with sequence similarity 89, member B FAM89B 23625 ENSG00000176973 Fam89b (MGI:106595) -chr11 65592835 65595799 11q13 11q13.1 603940 KCNK7 Potassium channel, subfamily K, member 7 KCNK7 10089 ENSG00000173338 Kcnk7 (MGI:1341841) -chr11 65597754 65614220 11q13.1-q13.3 11q13.1 600050 MAP3K11, MLK3, PTK1, SPRK Mitogen-activated protein kinase kinase kinase 11 MAP3K11 4296 ENSG00000173327 Map3k11 (MGI:1346880) -chr11 65614310 65637438 11q13.1 11q13.1 617657 PCNX3 Pecanex 3 PCNX3 399909 ENSG00000197136 Pcnx3 (MGI:1861733) -chr11 65638100 65650929 11q13.3 11q13.1 602180 SIPA1, SPA1 Signal-induced proliferation-associated gene-1 SIPA1 6494 ENSG00000213445 Sipa1 (MGI:107576) -chr11 65653600 65662945 11q12-q13 11q13.1 164014 RELA, NFKB3, CMCU RELA proto-oncogene, NF-kB subunit RELA 5970 ENSG00000173039 mutation identified in 1 CMCU family ?Mucocutaneous ulceration, chronic, 618287 (3), Autosomal dominant Rela (MGI:103290) -chr11 65712017 65719603 11q13 11q13.1 601409 KAT5, HTATIP, TIP60, ESA1, PLIP, NEDFASB Lysine acetyltransferase 5 KAT5 10524 ENSG00000172977 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, 619103 (3) Kat5 (MGI:1932051) -chr11 65717672 65720797 11q13.2 11q13.1 610330 RNASEH2C, AYP1, FLJ20974, AGS3 Ribonuclease H2, subunit C RNASEH2C 84153 ENSG00000172922 Aicardi-Goutieres syndrome 3, 610329 (3), Autosomal recessive Rnaseh2c (MGI:1915459) -chr11 65773897 65780975 11q13.1 11q13.1 614367 AP5B1, DKFZp761E198 Adaptor-related protein complex 5, beta-1 subunit AP5B1 91056 ENSG00000254470 Ap5b1 (MGI:2685808) -chr11 65787062 65797218 11q13 11q13.1 602313 OVOL1 Ovo, Drosophila, homolog-like, 1 OVOL1 5017 ENSG00000172818 Ovol1 (MGI:1330290) -chr11 65854672 65858179 11q13 11q13.1 601442 CFL1 Cofilin 1 (non-muscle) CFL1 1072 ENSG00000172757 Cfl1 (MGI:101757) -chr11 65860243 65867652 11q13 11q13.1 606591 MUS81 MUS81 structure-specific endonuclease subunit MUS81 80198 ENSG00000172732 Mus81 (MGI:1918961) -chr11 65866440 65872799 11q13 11q13.1 604633 EFEMP2, FBLN4, UPH1, ARCL1B EGF-containing fibulin-like extracellular matrix protein 2 (fibulin 4) EFEMP2 30008 ENSG00000172638 Cutis laxa, autosomal recessive, type IB, 614437 (3), Autosomal recessive Efemp2 (MGI:1891209) -chr11 65879836 65883740 11q13.1 11q13.1 602364 CTSW Cathepsin W CTSW 1521 ENSG00000172543 Ctsw (MGI:1338045) -chr11 65883739 65888509 11q13.1 11q13.1 608296 FIBP, TROFAS Fibroblast growth factor, acidic, intracellular binding protein FIBP 9158 ENSG00000172500 Thauvin-Robinet-Faivre syndrome, 617107 (3), Autosomal recessive Fibp (MGI:1926233) -chr11 65890672 65891634 11q13.1 11q13.1 605360 DIPA Delta antigen-interacting protein A CCDC85B 11007 ENSG00000175602 Ccdc85b (MGI:2147607) -chr11 65892048 65900544 11q13 11q13.1 136515 FOSL1, FRA1 FOS-like 1, AP-1 transcription factor subunit FOSL1 8061 ENSG00000175592 Fosl1 (MGI:107179) -chr11 65919425 65921562 11q13.1 11q13.1 602289 DRAP1 DR1-associated protein 1 DRAP1 10589 ENSG00000175550 Drap1 (MGI:1913806) -chr11 65961726 65980136 11q13.1 11q13.1 605941 SART1, HOMS1 Spliceosome-associated factor 1, recruiter of U4/U6.U5 tri-snRNP SART1 9092 ENSG00000175467 Sart1 (MGI:1309453) -chr11 65996544 66002216 11q13.1 11q13.1 618473 EIF1AD, OBELIX Eukaryotic translation initiation factor 1A domain-containing protein EIF1AD 84285 ENSG00000175376 Eif1ad (MGI:1917110) -chr11 66002078 66004148 11q13.1 11q13.1 603811 BANF1, BAF, NGPS Barrier to autointegration factor 1 BANF1 8815 ENSG00000175334 Nestor-Guillermo progeria syndrome, 614008 (3), Autosomal recessive Banf1 (MGI:1346330) -chr11 66012007 66013504 11q13 11q13.1 601891 CST6, ECTD15 Cystatin-M CST6 1474 ENSG00000175315 mutation identified in 1 ECTD15 family ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535 (3), Autosomal recessive Cst6 (MGI:1920970) -chr11 66016751 66026517 11q13.1 11q13.1 606389 CATSPER1, CATSPER, SPGF7 Cation channel, sperm-associated, 1 CATSPER1 117144 ENSG00000175294 Spermatogenic failure 7, 612997 (3), Autosomal recessive Catsper1 (MGI:2179947) -chr11 66040764 66049160 11q13 11q13.1 608234 GAL3ST3, GAL3ST2 Galactose-3-O-sulfotransferase 3 GAL3ST3 89792 ENSG00000175229 Gal3st3 (MGI:3617843) -chr11 66052360 66069307 Chr.11 11q13.1 605591 SF3B2, SF3B145, SAP145 Splicing factor 3B, subunit 2 SF3B2 10992 ENSG00000087365 Sf3b2 (MGI:2441856) -chr11 66070271 66244743 11q13.1 11q13.1-q13.2 607492 PACS1, SHMS, MRD17 Phosphofurin acidic cluster sorting protein 1 PACS1 55690 ENSG00000175115 Schuurs-Hoeijmakers syndrome, 615009 (3), Autosomal dominant Pacs1 (MGI:1277113) -chr11 66257287 66267859 11q12-q13 11q13.2 611729 KLC2, SPOAN Kinesin, light chain 2 KLC2 64837 ENSG00000174996 Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3), Autosomal recessive Klc2 (MGI:107953) -chr11 66268525 66277491 11q13.1 11q13.2 612565 RAB1B Ras-associated protein RAB1B RAB1B 81876 ENSG00000174903 Rab1b (MGI:1923558) -chr11 66278174 66284205 11q13.2 11q13.2 611288 CNIH2, CNIL Cornichon, Drosophila, homolog of, 2 CNIH2 254263 ENSG00000174871 Cnih2 (MGI:1277225) -chr11 66284579 66289142 11q13 11q13.2 611484 YIF1A, YIF1 YIP1-interacting factor homolog A, membrane-trafficking protein YIF1A 10897 ENSG00000174851 Yif1a (MGI:1915340) -chr11 66314493 66317043 11q13 11q13.2 606064 CD248, TEM1 CD248 antigen CD248 57124 ENSG00000174807 Cd248 (MGI:1917695) -chr11 66330240 66336773 11q13.2 11q13.2 605965 RIN1 Ras and Rab interactor 1 RIN1 9610 ENSG00000174791 Rin1 (MGI:2385695) -chr11 66337332 66345124 11q13.1-q13.2 11q13.2 606259 BRMS1 BRMS1 transcriptional repressor and anoikis regulator BRMS1 25855 ENSG00000174744 Brms1 (MGI:2388804) -chr11 66345373 66347628 11q13.2 11q13.2 605517 B4GAT1, B3GNT1, IGNT, IGAT, MDDGA13 Beta-1,4glucuronyltransferase 1 B4GAT1 11041 ENSG00000174684 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3), Autosomal recessive B4gat1 (MGI:1919680) -chr11 66362520 66372475 11q13 11q13.2 602110 SLC29A2, HNP36, DER12 Solute carrier family 29 (nucleoside transporters), member 2 (hydrophobic nucleolar protein, 36kD) SLC29A2 3177 ENSG00000174669 Slc29a2 (MGI:1345278) -chr11 66408921 66426706 11q13 11q13.2 608554 NPAS4, NXF Neuronal PAS domain protein 4 NPAS4 266743 ENSG00000174576 Npas4 (MGI:2664186) -chr11 66435074 66438859 11q13.3 11q13.2 611826 MRPL11 Mitochondrial ribosomal protein L11 MRPL11 65003 ENSG00000174547 Mrpl11 (MGI:2137215) -chr11 66466326 66477336 11q13.2 11q13.2 609827 PELI3 Pellino E3 ubiquitin protein ligase 3 PELI3 246330 ENSG00000174516 Peli3 (MGI:1924963) -chr11 66480433 66509656 11q12-q13.1 11q13.2 606818 DPP3 Dipeptidyl peptidase III DPP3 10072 ENSG00000254986 Dpp3 (MGI:1922471) -chr11 66510634 66533597 11q13 11q13.2 209901 BBS1 BBS1 gene BBS1 582 ENSG00000174483 Bardet-Biedl syndrome 1, 209900 (3), Digenic recessive, Autosomal recessive Bbs1 (MGI:1277215) -chr11 66546394 66563333 11q13-q14 11q13.2 102574 ACTN3, ACTN3D Actinin, alpha-3 ACTN3 89 ENSG00000248746 [Sprinting performance], 617749 (3); [Alpha-actinin-3 deficiency], 617749 (3) Actn3 (MGI:99678) -chr11 66563462 66568605 11q13.1 11q13.2 603539 CTSF, CLN13 Cathepsin F CTSF 8722 ENSG00000174080 Ceroid lipofuscinosis, neuronal, 13 (Kufs type), autosomal dominant, 615362 (3), Autosomal recessive Ctsf (MGI:1861434) -chr11 66593161 66606018 11q13 11q13.2 603864 CCS Copper chaperone for superoxide dismutase CCS 9973 ENSG00000173992 Ccs (MGI:1333783) -chr11 66616629 66629933 11q13 11q13.2 612409 RBM14, PSP2, COAA, SIP RNA-binding motif protein 14 RBM14 10432 ENSG00000239306 Rbm14 (MGI:1929092) -chr11 66638702 66668379 11q13 11q13.2 602571 RBM4. LARK RNA-binding motif protein-4 (lark, Drosophila, homolog of) RBM4 5936 ENSG00000173933 Rbm4 (MGI:1100865) -chr11 66682495 66729360 11q13 11q13.2 604985 SPTBN2, SCA5, SCAR14 Spectrin, beta, nonerythrocytic, 2 SPTBN2 6712 ENSG00000173898 Spinocerebellar ataxia 5, 600224 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 14, 615386 (3), Autosomal recessive Sptbn2 (MGI:1313261) -chr11 66744735 66843515 11q13.2 11q13.2 616109 C11orf80, HYDM4 Chromosome 11 open reading frame 80 C11orf80 79703 ENSG00000173715 Hydatidiform mole, recurrent, 4, 618432 (3), Autosomal recessive Gm960 (MGI:2685806) -chr11 66843440 66846551 11q13 11q13.2 605385 RCE1 Ras converting CAAX endopeptidase 1 RCE1 9986 ENSG00000173653 Rce1 (MGI:1336895) -chr11 66848419 66958417 11q13.4-q13.5 11q13.2 608786 PC Pyruvate carboxylase PC 5091 ENSG00000173599 Pyruvate carboxylase deficiency, 266150 (3), Autosomal recessive Pcx (MGI:97520) -chr11 66857063 66860474 11q13.1 11q13.2 612810 LRFN4, SALM3 Leucine-rich repeat and fibronectin type III domain-containing protein 4 LRFN4 78999 ENSG00000173621 Lrfn4 (MGI:2385612) -chr11 67006772 67050862 11q13.2 11q13.2 606436 SYT12, SRG1 Synaptotagmin 12 SYT12 91683 ENSG00000173227 Syt12 (MGI:2159601) -chr11 67056846 67072016 11q14.3 11q13.2 605781 RHOD, ARHD, RHOHP1 Ras homolog gene family, member D RHOD 29984 ENSG00000173156 Rhod (MGI:108446) -chr11 67119262 67258081 Chr.11 11q13.2 605657 FBXL11, FBL11 F-box and leucine-rich repeat protein-11 KDM2A 22992 ENSG00000173120 Kdm2a (MGI:1354736) -chr11 67266419 67286555 11q13.2 11q13.2 109635 GRK2, ADRBK1 G protein-coupled receptor kinase 2 GRK2 156 ENSG00000173020 Grk2 (MGI:87940) -chr11 67289302 67302483 11q13.2 11q13.2 615126 ANKRD13D Ankyrin repeat domain-containing protein 13D ANKRD13D 338692 ENSG00000172932 Ankrd13d (MGI:1915673) -chr11 67303477 67312606 11q13.2 11q13.2 606780 SSH3 Slingshot, Drosophila, homolog of, 3 SSH3 54961 ENSG00000172830 Ssh3 (MGI:2683546) -chr11 67350764 67353595 11q13 11q13.2 611525 POLD4, POLDS, P12 Polymerase, DNA-directed, delta 4 POLD4 57804 ENSG00000175482 Pold4 (MGI:1916995) -chr11 67364167 67374176 11q13.3 11q13.2 607672 CLCF1, BSF3, CLC, CISS2 Cardiotrophin-like cytokine CLCF1 23529 ENSG00000175505 Cold-induced sweating syndrome 2, 610313 (3), Autosomal recessive Clcf1 (MGI:1930088) -chr11 67391975 67398411 11q13.1-q13.2 11q13.2 603761 RAD9A, RAD9 RAD9 checkpoint clamp component A RAD9A 5883 ENSG00000172613 Rad9a (MGI:1328356) -chr11 67398182 67401857 11q13 11q13.2 176875 PPP1CA, PPP1A Protein phosphatase-1, catalytic subunit, alpha isoform PPP1CA 5499 ENSG00000172531 Ppp1ca (MGI:103016) -chr11 67403717 67410089 11q13.1 11q13.2 610831 TBC1D10C, CARABIN TBC1 domain family, member 10C TBC1D10C 374403 ENSG00000175463 Tbc1d10c (MGI:1922072) -chr11 67415677 67425606 11q13 11q13.2 613368 CARNS1, ATPGD1, KIAA1394 Carnosine synthase 1 CARNS1 57571 ENSG00000172508 Carns1 (MGI:2147595) -chr11 67428474 67435407 11q13.2 11q13.2 608939 RPS6KB2, S6K2 Ribosomal protein S6 kinase B2 RPS6KB2 6199 ENSG00000175634 Rps6kb2 (MGI:1927343) -chr11 67435509 67443808 11q13.2 11q13.2 609849 CORO1B Coronin 1B CORO1B 57175 ENSG00000172725 Coro1b (MGI:1345963) -chr11 67435509 67437681 11q13.3 11q13.2 601577 PTPRCAP, LPAP Protein tyrosine phosphatase, receptor type, c polypeptide-associated protein PTPRCAP 5790 ENSG00000213402 Ptprcap (MGI:97811) -chr11 67452402 67461773 11q13.1 11q13.2 608965 CABP4, CRSD, CSNB2B Calcium-binding protein 4 CABP4 57010 ENSG00000175544 Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3), Autosomal recessive Cabp4 (MGI:1920910) -chr11 67468178 67491102 11q13.3 11q13.2 605555 AIP, XAP2, ARA9, PITA1 Aryl hydrocarbon receptor-interacting protein AIP 9049 ENSG00000110711 Pituitary adenoma 1, multiple types, 102200 (3), Somatic mutation, Autosomal dominant; Pituitary adenoma predisposition, 102200 (3), Somatic mutation, Autosomal dominant Aip (MGI:109622) -chr11 67491759 67505371 11q13.2 11q13.2 608794 PITPNM1, NIR2, RDGBA Phosphatidylinositol transfer protein, membrane-associated, 1 PITPNM1 9600 ENSG00000110697 Pitpnm1 (MGI:1197524) -chr11 67518911 67523445 11q13.1 11q13.2 607314 CABP2, DFNB93 Calcium-binding protein 2 CABP2 51475 ENSG00000167791 Deafness, autosomal recessive 93, 614899 (3), Autosomal recessive Cabp2 (MGI:1352749) -chr11 67583811 67586652 11q13 11q13.2 134660 GSTP1, GST3 Glutathione S-transferase pi GSTP1 2950 ENSG00000084207 formerly called GST1 Gstp2,Gstp1 (MGI:95865,MGI:95864) -chr11 67606935 67612553 11q13 11q13.2 161015 NDUFV1, UQOR1, MC1DN4 NADH-ubiquinone oxidoreductase core subunit V1 NDUFV1 4723 ENSG00000167792 Mitochondrial complex I deficiency, nuclear type 4, 618225 (3), Autosomal recessive Ndufv1 (MGI:107851) -chr11 67631302 67639762 11q13.1-q13.2 11q13.2 604648 TBX10 T-box 10 TBX10 347853 ENSG00000167800 Tbx10 (MGI:1261436) -chr11 67642550 67650828 11q13.2 11q13.2 614413 ACY3, HCBP1 Aminoacylase 3 ACY3 91703 ENSG00000132744 Acy3 (MGI:1918920) -chr11 67662154 67681251 Chr.11 11q13.2 601917 ALDH3B2, ALDH8 Aldehyde dehydrogenase 3 family, member B2 ALDH3B2 222 ENSG00000132746 Aldh3b2 (MGI:2147613) -chr11 67991099 68004096 11q13 11q13.2 608204 UNC93B1, IIAE1 unc-93 homolog B1, TLR signaling regulator UNC93B1 81622 ENSG00000110057 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3) Unc93b1 (MGI:1859307) -chr11 68008546 68029275 Chr.11 11q13.2 600466 ALDH3B1, ALDH7 Aldehyde dehydrogenase 3 family, member B1 ALDH3B1 221 ENSG00000006534 Aldh3b1,Aldh3b3 (MGI:1920708,MGI:1914939) -chr11 68030680 68036643 11q13 11q13.2 602141 NDUFS8, MC1DN2 NADH-ubiquinone oxidoreductase core subunit S8 NDUFS8 4728 ENSG00000110717 previously assigned to 3q28 Mitochondrial complex I deficiency, nuclear type 2, 618222 (3), Autosomal recessive Ndufs8 (MGI:2385079) -chr11 68038999 68053845 11q13.4-q13.5 11q13.2 604592 TCIRG1, TIRC7, OC116, OPTB1 T-cell immune regulator 1 TCIRG1 10312 ENSG00000110719 Osteopetrosis, autosomal recessive 1, 259700 (3), Autosomal recessive Tcirg1 (MGI:1350931) -chr11 68052858 68121388 11q13.2 11q13.2 118491 CHKA, CHK Choline kinase, alpha CHKA 1119 ENSG00000110721 Chka (MGI:107760) -chr11 68154862 68213898 11q13 11q13.2 610881 KMT5B, SUV420H1, CGI85, MRD51 Lysine methyltransferase 5B KMT5B 51111 ENSG00000110066 Mental retardation, autosomal dominant 51, 617788 (3), Autosomal dominant Kmt5b (MGI:2444557) -chr11 68261337 68271972 11q13 11q13.2 610880 C11orf24 Chromosome 11 open reading frame 24 C11orf24 53838 ENSG00000171067 1810055G02Rik (MGI:1919306) -chr11 68298865 68449274 11q13.4 11q13.2 603506 LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4 Low density lipoprotein receptor-related protein-5 LRP5 4041 ENSG00000162337 Osteopetrosis, autosomal dominant 1, 607634 (3), Autosomal dominant; [Bone mineral density variability 1], 601884 (3), Autosomal dominant; {Osteoporosis}, 166710 (3), Autosomal dominant; Hyperostosis, endosteal, 144750 (3), Autosomal dominant; Osteosclerosis, 144750 (3), Autosomal dominant; Polycystic liver disease 4 with or without kidney cysts, 617875 (3), Autosomal dominant; Osteoporosis-pseudoglioma syndrome, 259770 (3), Autosomal recessive; Exudative vitreoretinopathy 4, 601813 (3), Autosomal dominant, Autosomal recessive; van Buchem disease, type 2, 607636 (3) Lrp5 (MGI:1278315) -chr11 68460723 68615333 11q13 11q13.2 610879 SAPS3, PP6R3, C11orf23, KIAA1558 SAPS domain family, member 3 PPP6R3 55291 ENSG00000110075 Ppp6r3 (MGI:1921807) -chr11 68684543 68691174 11q13.3-q13.5 11q13.2 137035 GAL, GALN, GLNN, ETL8 Galanin GAL 51083 ENSG00000069482 mutation identified in 1 ETL8 family ?Epilepsy, familial temporal lobe, 8, 616461 (3), Autosomal dominant Gal (MGI:95637) -chr11 68700000 75500000 11q13.3-q13.4 194633 ZNF126 Zinc finger protein-126 (HZF-2) -chr11 68706673 68751563 11q13.2-q13.3 11q13.3 604374 MTL5, TESMIN Metallothionein-like 5, testis-specific TESMIN 9633 ENSG00000132749 Tesmin (MGI:1340029) -chr11 68754619 68844409 11q13 11q13.3 600528 CPT1A Carnitine palmitoyltransferase I, liver CPT1A 1374 ENSG00000110090 CPT deficiency, hepatic, type IA, 255120 (3), Autosomal recessive Cpt1a (MGI:1098296) -chr11 68891275 68903831 11q13.2 11q13.3 611834 MRPL21 Mitochondrial ribosomal protein L21 MRPL21 219927 ENSG00000197345 Mrpl21 (MGI:2660674) -chr11 68903854 68940600 11q13.2-q13.4 11q13.3 600502 IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6, CMT2S Immunoglobulin mu binding protein 2 IGHMBP2 3508 ENSG00000132740 Neuronopathy, distal hereditary motor, type VI, 604320 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3), Autosomal recessive Ighmbp2 (MGI:99954) -chr11 68980020 68980985 11q13.2 11q13.3 607231 MRGPRD, MRGD Mas-related G protein-coupled receptor family, member D MRGPRD 116512 ENSG00000172938 Mrgprd (MGI:3033142) -chr11 69004374 69013670 11q13.2 11q13.3 607233 MRGPRF, MRGF, RTA Mas-related G protein-coupled receptor family, member F MRGPRF 116535 ENSG00000172935 Mrgprf (MGI:2384823) -chr11 69048931 69090596 11q13.2 11q13.3 612163 TPCN2, TPC2, SHEP10 Two-pore segment channel 2 TPCN2 219931 ENSG00000162341 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) Tpcn2 (MGI:2385297) -chr11 69294154 69297286 11q13.1 11q13.3 605625 MYEOV Myeloma overexpressed gene MYEOV 26579 ENSG00000172927 -chr11 69485560 69493542 11q13 11q13.3 617696 CUPID1, LINC01488, BRCAT8 CCND1 upstream intergenic DNA repair 1, noncoding LINC01488 101928292 -chr11 69641155 69654473 11q13 11q13.3 168461 CCND1, PRAD1, BCL1 Cyclin D1 CCND1 595 ENSG00000110092 pseudogene on 11q13 {von Hippel-Lindau syndrome, modifier of}, 193300 (3), Autosomal dominant; {Colorectal cancer, susceptibility to}, 114500 (3), Somatic mutation, Autosomal dominant; {Multiple myeloma, susceptibility to}, 254500 (3), Somatic mutation Ccnd1 (MGI:88313) -chr11 69665562 69675353 11q13 11q13.3 607224 ORAOV1, TAOS1 Oral cancer overexpressed gene 1 LTO1 220064 ENSG00000149716 LTO1 (MGI:1919534) -chr11 69698237 69704021 11q13.1 11q13.3 603891 FGF19 Fibroblast growth factor 19 FGF19 9965 ENSG00000162344 Fgf15 (MGI:1096383) -chr11 69771021 69775340 11q13 11q13.3 164980 FGF4, HSTF1 Fibroblast growth factor-4 (heparin secretory transforming protein-1; Kaposi sarcoma oncogene) FGF4 2249 ENSG00000075388 coamplified with FGF3 in melanoma Fgf4 (MGI:95518) -chr11 69809967 69819415 11q13 11q13.3 164950 FGF3, INT2 Fibroblast growth factor-3 (oncogene INT2) FGF3 2248 ENSG00000186895 35kb 5' to HST1 Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3), Autosomal recessive Fgf3 (MGI:95517) -chr11 69985906 70189529 11q13 11q13.3 610108 ANO1, TMEM16A, FLJ10261 Anoctamin 1, calcium activated chloride channel ANO1 55107 ENSG00000131620 Ano1 (MGI:2142149) -chr11 70203295 70207389 11q13.3 11q13.3 602457 FADD FAS-associating protein with death domain FADD 8772 ENSG00000168040 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 (3), Autosomal recessive Fadd (MGI:109324) -chr11 70270686 70384404 11q13.3 11q13.3 611054 PPFIA1, LIP1 Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting protein alpha-1 PPFIA1 8500 ENSG00000131626 Ppfia1 (MGI:1924750) -chr11 70398528 70436578 11q13 11q13.3 164765 CTTN, EMS1 Cortactin CTTN 2017 ENSG00000085733 amplified in breast cancer and squamous cell cancer Cttn (MGI:99695) -chr11 70467853 71252723 11q13.3-q13.4 11q13.3-q13.4 603290 SHANK2, CORTBP1, AUTS17 SH3 and multiple ankyrin repeat domains 2 SHANK2 22941 ENSG00000162105 {Autism susceptibility 17}, 613436 (3) Shank2 (MGI:2671987) -chr11 71434410 71448392 11q12-q13 11q13.4 602858 DHCR7, SLOS Delta-7-dehydrocholesterol reductase DHCR7 1717 ENSG00000172893 Smith-Lemli-Opitz syndrome, 270400 (3), Autosomal recessive Dhcr7 (MGI:1298378) -chr11 71453202 71501815 11q13.2 11q13.4 608285 NADSYN1, VCRL3 NAD synthetase 1 NADSYN1 55191 ENSG00000172890 Vertebral, cardiac, renal, and limb defects syndrome 3, 618845 (3), Autosomal recessive Nadsyn1 (MGI:1926164) -chr11 71548419 71549607 11q13.5 11q13.4 148021 KRTAP5-9, KRN1 Keratin associated protein 5-9 KRTAP5-9 3846 ENSG00000254997 -chr11 71787505 71801238 11q13.4 11q13.4 616124 FAM86C1P, FAM86C1 Family with sequence similarity 86, member C1, pseudogene FAM86C1P 55199 Eef2kmt (MGI:1917761) -chr11 71997943 72002918 11q13.4 11q13.4 604113 IL18BP, FVH Interleukin 18-binding protein IL18BP 10068 ENSG00000137496 mutation identified in 1 FVH patient {?Hepatitis, fulminant viral, susceptibility to}, 618549 (3), Autosomal recessive Il18bp (MGI:1333800) -chr11 72002863 72080685 11q13 11q13.4 164009 NUMA1 Nuclear mitotic apparatus protein-1 NUMA1 4926 ENSG00000137497 fused with RARA in APL Leukemia, acute promyelocytic, somatic, 612376 (3) Numa1 (MGI:2443665) -chr11 72080849 72110781 11q13.3-q13.4 11q13.4 612414 LRTOMT, LRTOMT1, LRTOMT2, DFNB63 Leucine-rich transmembrane O-methyltransferase LRTOMT 220074 ENSG00000284922 Deafness, autosomal recessive 63, 611451 (3), Autosomal recessive Tomt (MGI:3769724) -chr11 72097291 72103296 11q13.4 11q13.4 613510 LAMTOR1, C11orf59, PDRO Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 1 LAMTOR1 55004 ENSG00000149357 Lamtor1 (MGI:1913758) -chr11 72106371 72112779 11q13.4 11q13.4 614717 ANAPC15, APC15 Anaphase-promoting complex, subunit 15 ANAPC15 25906 ENSG00000110200 Anapc15 (MGI:1922680) -chr11 72135724 72139891 11q13.4 11q13.4 602469 FOLR3 Folate receptor 3 FOLR3 2352 ENSG00000110203 Folr2 (MGI:95569) -chr11 72189708 72196322 11q13.3-q13.5 11q13.4 136430 FOLR1, NCFTD Folate receptor, alpha FOLR1 2348 ENSG00000110195 telomeric of FGF3 Neurodegeneration due to cerebral folate transport deficiency, 613068 (3), Autosomal recessive Folr1 (MGI:95568) -chr11 72216793 72221949 11q13.3-q13.5 11q13.4 136425 FOLR2 Folate receptor, beta FOLR2 2350 ENSG00000165457 23kb from FOLR1 Folr2 (MGI:95569) -chr11 72223860 72239146 11q23 11q13.4 600829 INPPL1, OPSMD Inositol polyphosphate phosphatase-like 1 INPPL1 3636 ENSG00000165458 Opsismodysplasia, 258480 (3), Autosomal recessive Inppl1 (MGI:1333787) -chr11 72239076 72244175 11q13.3-q13.4 11q13.4 602753 PHOX2A, ARIX, CFEOM2 Paired-like homeobox 2a PHOX2A 401 ENSG00000165462 Fibrosis of extraocular muscles, congenital, 2, 602078 (3), Autosomal recessive Phox2a (MGI:106633) -chr11 72285494 72434556 11q13.4 11q13.4 616254 CLPB, SKD3, MGCA7, MEGCANN Caseinolytic peptidase B CLPB 81570 ENSG00000162129 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3), Autosomal recessive Clpb (MGI:1100517) -chr11 72576140 72674421 11q13.4 11q13.4 602658 PDE2A, IDDPADS Phosphodiesterase 2A PDE2A 5138 ENSG00000186642 Intellectual developmental disorder with paroxysmal dyskinesia or seizures, 619150 (3), Autosomal recessive Pde2a (MGI:2446107) -chr11 72615062 72615129 11q13.4 11q13.4 615017 MIR139, MIR139-3p Micro RNA 139 MIR139 406931 ENSG00000272036 Mir139 (MGI:2676824) -chr11 72685068 72752407 11q13.4 11q13.4 606646 ARAP1, CENTD2, KIAA0782 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ARAP1 116985 ENSG00000186635 Arap1 (MGI:1916960) -chr11 72754728 72794046 11q13 11q13.4 617382 STARD10 START domain-containing protein 10 STARD10 10809 ENSG00000214530 Stard10 (MGI:1860093) -chr11 72814406 72845131 11q13.4 11q13.4 618716 ATG16L2 Autophagy 16-like 2 ATG16L2 89849 ENSG00000168010 Atg16l2 (MGI:1920933) -chr11 72836742 73142681 11q13.4 11q13.4 617556 FCHSD2, KIAA0769, NWK FCH and double SH3 domains protein 2 FCHSD2 9873 ENSG00000137478 Fchsd2 (MGI:2448475) -chr11 73218280 73242426 11q13.5 11q13.4 600041 P2RY2, P2Y2, P2U Purinergic receptor P2Y, G-protein coupled, 2 P2RY2 5029 ENSG00000175591 P2ry2 (MGI:105107) -chr11 73264502 73298624 11q13.5 11q13.4 602451 P2RY6, P2Y6 Pyrimidinergic receptor P2Y, G protein-coupled, 6 P2RY6 5031 ENSG00000171631 P2ry6 (MGI:2673874) -chr11 73308275 73369387 11q13.4 11q13.4 617043 ARHGEF17, RHOGEF17, TEM4, KIAA0337 Rho guanine nucleotide exchange factor 17 ARHGEF17 9828 ENSG00000110237 Arhgef17 (MGI:2673002) -chr11 73376394 73397473 11q13.4 11q13.4 611211 RELT, TNFRSF19L, AI3C Receptor expressed in lymphoid tissues RELT 84957 ENSG00000054967 Amelogenesis imperfecta, type IIIC, 618386 (3), Autosomal recessive Relt (MGI:2443373) -chr11 73400486 73598111 11q13.4 11q13.4 616316 RAM168A, TCRP1, KIAA0280 Family with sequence similarity 168, member A FAM168A 23201 ENSG00000054965 Fam168a (MGI:2442372) -chr11 73646580 73662818 11q13-q14.1 11q13.4 607651 PLEKHB1, PHR1, KPL1 Pleckstrin homology domain-containing protein, family B, member 1 PLEKHB1 58473 ENSG00000021300 Plekhb1 (MGI:1351469) -chr11 73675637 73761073 11q13.4 11q13.4 179513 RAB6A, RAB6 Oncogene RAB6 RAB6A 5870 ENSG00000175582 previously assigned to 2q14-q21 Rab6a (MGI:894313) -chr11 73787873 73865132 11q13.2 11q13.4 611853 MRPL48 Mitochondrial ribosomal protein L48 MRPL48 51642 ENSG00000175581 pseudogene on 6 Mrpl48 (MGI:1289321) -chr11 73870257 73876900 11q13.4 11q13.4 608016 COA4, CHCHD8, E2IG2 Cytochrome c oxidase assembly factor 4 homolog COA4 51287 ENSG00000181924 Coa4 (MGI:1915435) -chr11 73950620 73970286 11q13.3 11q13.4 610263 DNAJB13, TSARG6, CILD34 DNAJ/HSP40 homolog, subfamily B, member 13 DNAJB13 374407 ENSG00000187726 Ciliary dyskinesia, primary, 34, 617091 (3), Autosomal recessive Dnajb13 (MGI:1916637) -chr11 73974670 73983201 11q13 11q13.4 601693 UCP2, BMIQ4 Uncoupling protein-2 UCP2 7351 ENSG00000175567 {Obesity, susceptibility to, BMIQ4}, 607447 (3) Ucp2 (MGI:109354) -chr11 74000276 74009084 11q13 11q13.4 602044 UCP3 Uncoupling protein-3 UCP3 7352 ENSG00000175564 {Obesity, severe, and type II diabetes}, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive Ucp3 (MGI:1099787) -chr11 74012717 74171001 11q13.4 11q13.4 615944 C2CD3, OFD14 C2 calcium-dependent domain-containing protein 3 C2CD3 26005 ENSG00000168014 Orofaciodigital syndrome XIV, 615948 (3), Autosomal recessive C2cd3 (MGI:2142166) -chr11 74171089 74254702 11q13.4 11q13.4 611117 PPME1 Protein phosphatase methylesterase 1 PPME1 51400 ENSG00000214517 Ppme1 (MGI:1919840) -chr11 74259922 74311653 11q12 11q13.4 608987 P4HA3 Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 3 P4HA3 283208 ENSG00000149380 P4ha3 (MGI:2444049) -chr11 74330315 74398750 11q13.4 11q13.4 611610 PGM2L1 Phosphoglucomutase 2-like 1 PGM2L1 283209 ENSG00000165434 Pgm2l1 (MGI:1918224) -chr11 74454840 74467728 11q13-q14 11q13.4 604433 KCNE3, HOKPP, HYPP Potassium voltage-gated channel, ISK-related subfamily, member 3 KCNE3 10008 ENSG00000175538 mutation identified in 1 BRGDA6 family ?Brugada syndrome 6, 613119 (3) Kcne3 (MGI:1891124) -chr11 74490518 74493723 11q13.4 11q13.4 617659 LIPT2 Lipoyl(octanoyl) transferase 2 LIPT2 387787 ENSG00000175536 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3), Autosomal recessive Lipt2 (MGI:1914414) -chr11 74592581 74669340 11q13.4 11q13.4 611415 POLD3, KIAA0039 Polymerase (DNA-directed), delta 3, accessory subunit POLD3 10714 ENSG00000077514 Pold3 (MGI:1915217) -chr11 74696428 74731425 11q13.4 11q13.4 613127 CHRDL2, CHL2, BNF1 Chordin-like 2 CHRDL2 25884 ENSG00000054938 Chrdl2 (MGI:1916371) -chr11 74748848 74842412 11q13.4 11q13.4 618650 RNF169, KIAA1991 RING finger protein 169 RNF169 254225 ENSG00000166439 Rnf169 (MGI:1920257) -chr11 74840909 74949186 11q13.3 11q13.4 609788 XRRA1 X-ray radiation resistance-associated 1 XRRA1 143570 ENSG00000166435 Xrra1 (MGI:2181647) -chr11 74949265 74979032 11q13.4 11q13.4 619411 SPCS2, KIAA0102 Signal peptidase complex, subunit 2 SPCS2 9789 ENSG00000118363 Spcs2 (MGI:1913874) -chr11 74988643 75010906 11q13.5 11q13.4 604617 NEU3, SIAL3 Neuraminidase 3 (membrane sialidase; sialidase 3) NEU3 10825 ENSG00000162139 Neu3 (MGI:1355305) -chr11 75151106 75206548 Chr.11 11q13.4 604988 SLC21A9, OATPB Solute carrier family 21 (organic anion transporter), member 9 SLCO2B1 11309 ENSG00000137491 Slco2b1 (MGI:1351872) -chr11 75260121 75351661 11q13 11q13.4 107940 ARRB1 Arrestin, beta 1 ARRB1 408 ENSG00000137486 Arrb1 (MGI:99473) -chr11 75335091 75335185 11q13 11q13.4 613755 MIR326, MIRN326 Micro RNA 326 MIR326 442900 ENSG00000199090 Mir326 (MGI:3619338) -chr11 75399517 75422301 11q13.3-q13.5 11q13.4 600454 RPS3 Ribosomal protein S3 RPS3 6188 ENSG00000149273 Rps3 (MGI:1350917) -chr11 75400390 75400537 11q13.3-q13.5 11q13.4 600455 RNU15A RNA, U15a small nucleolar SNORD15A 6079 ENSG00000206941 processed from intron of RPS3 -chr11 75434639 75525940 11q13.4-q13.5 11q13.4-q13.5 609632 GDPD5, GDE2, PP1665 Glycerophosphodiester phosphodiesterase domain-containing protein 3 GDPD5 81544 ENSG00000158555 Gdpd5 (MGI:2686926) -chr11 75500000 77400000 11q13.5 613064 ATOD7 Dermatitis, atopic, 7 100310755 associated with rs7927894 {Dermatitis, atopic, susceptibility to, 7}, 613064 (2) -chr11 75500000 77400000 11q13 617697 CUPID2 CCND1 upstream intergenic DNA repair 2, noncoding -chr11 75500000 110600000 11q13-q22 133220 ESA4 Esterase-A4 ESA4 2090 -chr11 75500000 77400000 11q13 611958 HPC14 Prostate cancer, hereditary, 14 100188867 associated with rs7931342 {Prostate cancer, hereditary, 14}, 611958 (2) -chr11 75500000 77400000 11q13 600319 IDDM4 Insulin-dependent diabetes mellitus-4 3403 {Diabetes mellitus, insulin-dependent, 4}, 600319 (2) -chr11 75500000 77400000 11q13 166750 OTDD, DEL11q13, C11DELq13 Otodental dysplasia (chromosome 11q13 deletion syndrome) between rs9666584 and rs41408348 Otodental dysplasia chromosome deletion syndrome, 166750 (4), Autosomal dominant -chr11 75500000 77400000 11q13 169710 PGA3 Pepsinogen A3 PGA3 643834 ENSG00000229859 -chr11 75500000 77400000 11q13 165110 SEA Oncogene SEA (S13 avian erythroblastosis) SEA 6395 -chr11 75500000 77400000 11q13 607088 SMAR Spinal muscular atrophy, chronic distal, autosomal recessive 246751 no mutations found in IGHMBP2 Spinal muscular atrophy, chronic distal, autosomal recessive, 607088 (2), Autosomal recessive -chr11 75500000 77400000 11q13 191181 ST3 Suppression of tumorigenicity-3 (tumor-suppressor gene, HELA cell type) 6762 Cervical carcinoma, 191181 (2) -chr11 75562252 75572782 11q13.5 11q13.5 600943 SERPINH1, SERPINH2, PPROM, CBP2, CBP1, OI10 Serpin peptidase inhibitor, clade H, member 1 SERPINH1 871 ENSG00000149257 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3); Osteogenesis imperfecta, type X, 613848 (3), Autosomal recessive Serpinh1 (MGI:88283) -chr11 75586913 75669037 11q13.5 11q13.5 601783 MAP6, MTAP6, STOP, KIAA1878 Microtubule-associated protein 6 MAP6 4135 ENSG00000171533 Map6 (MGI:1201690) -chr11 75717818 75732952 11q13.5 11q13.5 610270 MOGAT2, MGAT2 Monoacylglycerol O-acyltransferase 2 MOGAT2 80168 ENSG00000166391 Mogat2 (MGI:2663253) -chr11 75768777 75801533 11q13.5 11q13.5 606983 DGAT2 Diacylglycerol O-acyltransferase 2 DGAT2 84649 ENSG00000062282 Dgat2 (MGI:1915050) -chr11 75815188 76144231 11q13 11q13.5 602493 UVRAG UV radiation resistance-associated gene UVRAG 7405 ENSG00000198382 Uvrag (MGI:1925860) -chr11 76186324 76210841 11q13.5 11q13.5 603699 WNT11 Wingless-type MMTV integration site family, member 11 WNT11 7481 ENSG00000085741 Wnt11 (MGI:101948) -chr11 76349955 76381131 11q13.5 11q13.5 607374 PRKRIR PRKR inhibitor, repressor of THAP12 5612 ENSG00000137492 Thap12 (MGI:1920231) -chr11 76444927 76553030 11q13.4-q13.5 11q13.5 608574 EMSY, C11orf30 EMSY transcriptional repressor, BRCA2 interacting EMSY 56946 ENSG00000158636 100kb from GARP Emsy (MGI:1924203) -chr11 76657523 76670746 11q13.5 11q13.5 137207 LRRC32, GARP, D11S833E, CPPRDD Leucine rich repeat containing 32 LRRC32 2615 ENSG00000137507 Cleft palate, proliferative retinopathy, and developmental delay, 619074 (3), Autosomal recessive Lrrc32 (MGI:93882) -chr11 76782279 76798143 11q13.5 11q13.5 608015 TSKU, E2IG4, TSK Tsukushin TSKU 25987 ENSG00000182704 Tsku (MGI:2443855) -chr11 76860887 77026796 11q13.5 11q13.5 617036 ACER3, APHC, PHCA, PLDECO Alkaline ceramidase 3 ACER3 55331 ENSG00000078124 mutation identified in 1 PLDECO family ?Leukodystrophy, progressive, early childhood-onset, 617762 (3), Autosomal recessive Acer3 (MGI:1913440) -chr11 77034397 77041972 11q14 11q13.5 615315 B3GNT6 Beta-1,3-N-acetylglucosaminyltransferase 6 B3GNT6 192134 ENSG00000198488 B3gnt6 (MGI:3039603) -chr11 77066970 77126154 11q14 11q13.5 602537 CAPN5, HTRA3, VRNI Calpain 5 CAPN5 726 ENSG00000149260 Vitreoretinopathy, neovascular inflammatory, 193235 (3), Autosomal dominant Capn5 (MGI:1100859) -chr11 77102839 77103330 11q13.4-q14.1 11q13.5 164340 OMP Olfactory marker protein OMP 4975 ENSG00000254550 Omp (MGI:97436) -chr11 77128191 77215240 11q13.5 11q13.5 276903 MYO7A, USH1B, DFNB2, DFNA11 Myosin VIIA MYO7A 4647 ENSG00000137474 Deafness, autosomal recessive 2, 600060 (3), Autosomal recessive; Usher syndrome, type 1B, 276900 (3), Autosomal recessive; Deafness, autosomal dominant 11, 601317 (3), Autosomal dominant Myo7a (MGI:104510) -chr11 77322016 77514956 11q13-q14 11q13.5-q14.1 602590 PAK1, IDDMSSD p21/CDC42/RAC1-activated kinase 1 PAK1 5058 ENSG00000149269 Intellectual developmental disorder with macrocephaly, seizures, and speech delay, 618158 (3), Autosomal dominant Pak1 (MGI:1339975) -chr11 77589952 77610355 11q14 11q14.1 609914 AQP11, AQPX1 Aquaporin 11 AQP11 282679 ENSG00000178301 Aqp11 (MGI:1913583) -chr11 77614529 77637793 11q13.5-q14.1 11q14.1 602158 CLNS1A, CLNS1B Chloride channel, nucleotide-sensitive, 1A CLNS1A 1207 ENSG00000074201 CLNS1B on 6p12.1-q13 = pseudogene? Clns1a (MGI:109638) -chr11 77660008 77872231 11q13 11q14.1 608522 HBXAP, RSF1 Hepatitis B virus X-associated protein RSF1 51773 ENSG00000048649 Rsf1 (MGI:2682305) -chr11 77874417 77994669 11q14.1 11q14.1 611348 INTS4, INT4 Integrator complex subunit 4 INTS4 92105 ENSG00000149262 Ints4 (MGI:1917164) -chr11 78063860 78068350 11q13.5 11q14.1 601926 THRSP Thyroid hormone-responsive protein THRSP 7069 ENSG00000151365 Thrsp (MGI:109126) -chr11 78068296 78079861 11q14.1 11q14.1 603845 NDUFC2, MC1DN36 NADH-ubiquinone oxidoreductase subunit C2 NDUFC2 4718 ENSG00000151366 Mitochondrial complex I deficiency, nuclear type 36, 619170 (3), Autosomal recessive Ndufc2 (MGI:1344370) -chr11 78100945 78139642 11pter-p15.5 11q14.1 608103 ALG8, CDG1H, PCLD3 ALG8 alpha-1,3-glucosyltransferase ALG8 79053 ENSG00000159063 Congenital disorder of glycosylation, type Ih, 608104 (3), Autosomal recessive; Polycystic liver disease 3 with or without kidney cysts, 617874 (3), Autosomal dominant Alg8 (MGI:2141959) -chr11 78171242 78188625 11q14.1 11q14.1 618790 KCTD21, KCASH2 Potassium channel tetramerization domain-containing protein 21 KCTD21 283219 ENSG00000188997 Kctd21 (MGI:3643121) -chr11 78215292 78417819 11q13.4-q13.5 11q14.1 606203 GAB2 GRB2-associated binding protein 2 GAB2 9846 ENSG00000033327 Gab2 (MGI:1333854) -chr11 78435967 78574863 11q14.1 11q14.1 612803 NARS2, COXPD24, DFNB94 Asparaginyl-tRNA synthetase 2 NARS2 79731 ENSG00000137513 mutation identified in 1 DFNB94 family Combined oxidative phosphorylation deficiency 24, 616239 (3), Autosomal recessive; ?Deafness, autosomal recessive 94, 618434 (3), Autosomal recessive Nars2 (MGI:2142075) -chr11 78652828 79441029 11q14.1 11q14.1 610084 TENM4, ODZ4, TNM4, DOC4, KIAA1302, ETM5 Teneurin transmembrane protein 4 TENM4 26011 ENSG00000149256 Essential tremor, hereditary, 5, 616736 (3), Autosomal dominant Tenm4 (MGI:2447063) -chr11 82822935 82901690 11q14 11q14.1 176785 PRCP, PCP Prolylcarboxypeptidase (angiotensinase C) PRCP 5547 ENSG00000137509 Prcp (MGI:1919711) -chr11 82901734 82934658 11q14.1 11q14.1 618045 DDIAS, NOXIN, C11orf82 DNA damage-induced apoptosis suppressor DDIAS 220042 ENSG00000165490 Ddias (MGI:1921291) -chr11 82973132 83071896 11q12-q14 11q14.1 605693 RAB30 Ras-associated protein RAB30 RAB30 27314 ENSG00000137502 Rab30 (MGI:1923235) -chr11 83157094 83187450 11q14.1 11q14.1 608876 PCF11, KIAA0824 PCF11, yeast, homolog of PCF11 51585 ENSG00000165494 Pcf11 (MGI:1919579) -chr11 83455008 85628534 11q21 11q14.1 603583 DLG2 Discs large MAGUK scaffold protein 2 DLG2 1740 ENSG00000150672 Dlg2 (MGI:1344351) -chr11 85628572 85636539 11q14.1 11q14.1 615533 TMEM126B, MC1DN29 Transmembrane protein 126B TMEM126B 55863 ENSG00000171204 Mitochondrial complex I deficiency, nuclear type 29, 618250 (3), Autosomal recessive Tmem126b (MGI:1915722) -chr11 85647966 85656541 11q14.1-q21 11q14.1 612988 TMEM126A, OPA7 Transmembrane protein 126A TMEM126A 84233 ENSG00000171202 Optic atrophy 7, 612989 (3), Autosomal recessive Tmem126a (MGI:1913521) -chr11 85657984 85682862 11q14.1 11q14.1 606444 CREBZF, ZF CREB/ATF bZIP transcription factor CREBZF 58487 ENSG00000137504 Crebzf (MGI:2675296) -chr11 85694228 85854869 11q14 11q14.1 612880 SYTL2, SLP2, SLP2A, EXO4, KIAA1597 Synaptotagmin-like 2 SYTL2 54843 ENSG00000137501 Sytl2 (MGI:1933366) -chr11 85957174 86069859 11q14 11q14.2 603025 PICALM, CALM, CLTH, LAP Phosphatidylinositol-binding clathrin assembly protein PICALM 8301 ENSG00000073921 fuses with AF10 in t(10;11) Leukemia, acute myeloid, somatic, 601626 (3) Picalm (MGI:2385902) -chr11 86244752 86285419 11q14.2-q22.3 11q14.2 605984 EED, WAIT1, COGIS Embryonic ectoderm development protein EED 8726 ENSG00000074266 Cohen-Gibson syndrome, 617561 (3), Autosomal dominant Eed (MGI:95286) -chr11 86302228 86345942 11q14.2 11q14.2 614908 HIKESHI, C11orf73, HLD13 Hikeshi HIKESHI 51501 ENSG00000149196 Leukodystrophy, hypomyelinating, 13, 616881 (3), Autosomal recessive Hikeshi (MGI:96738) -chr11 86441107 86674745 11cen-q22.3 11q14.2 604626 ME3 Malic enzyme 3 ME3 10873 ENSG00000151376 Me3 (MGI:1916679) -chr11 86791070 86952909 11q14.1 11q14.2 618376 PRSS23 Protease, serine, 23 PRSS23 11098 ENSG00000150687 Prss23 (MGI:1923703) -chr11 86945678 86955394 11q14-q21 11q14.2 604579 FZD4, EVR1 Frizzled, Drosophila, homolog of, 4 FZD4 8322 ENSG00000174804 Retinopathy of prematurity, 133780 (3), Autosomal dominant; Exudative vitreoretinopathy 1, 133780 (3), Autosomal dominant Fzd4 (MGI:108520) -chr11 87037933 87328823 11q14.2 11q14.2 616360 TMEM135, PMP52 Transmembrane protein 135 TMEM135 65084 ENSG00000166575 Tmem135 (MGI:1920009) -chr11 87809489 88175503 11q13.5-q22.3 11q14.2 606281 RAB38 Ras-family, member RAB38 RAB38 23682 ENSG00000123892 Rab38 (MGI:1919683) -chr11 88293591 88337735 11q14.1-q14.3 11q14.2 602365 CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD Cathepsin C CTSC 1075 ENSG00000109861 Periodontitis 1, juvenile, 170650 (3), Autosomal recessive; Haim-Munk syndrome, 245010 (3), Autosomal recessive; Papillon-Lefevre syndrome, 245000 (3), Autosomal recessive Ctsc (MGI:109553) -chr11 88504575 89065981 11q14.2-q14.3 11q14.2-q14.3 604102 GRM5, MGLUR5 Glutamate receptor, metabotropic, 5 GRM5 2915 ENSG00000168959 Grm5 (MGI:1351342) -chr11 88600000 93000000 11q14 610888 GCRG224 Gastric cancer-related gene 224 360219 -chr11 88600000 110600000 11q14-q22 612017 IHPS3 Pyloric stenosis, infantile hypertrophic, 3 100188876 max lod at rs541821 Pyloric stenosis, infantile hypertrophic, 3, 612017 (2) -chr11 88600000 97400000 11q14-q21 603342 SCZD2 Schizophrenia susceptibility locus, chromosome 11-related 6378 {?Schizophrenia}, 181500 (2), Autosomal dominant -chr11 88600000 93000000 11q14 607279 SLEH1 Systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 170682 {Systemic lupus erythematosus with hemolytic anemia}, 607279 (2) -chr11 89177564 89295758 11q14-q21 11q14.3 606933 TYR, SHEP3, CMM8, OCA1A, ATN Tyrosinase TYR 7299 ENSG00000077498 [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3), Autosomal dominant; [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3), Autosomal dominant; {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3), Autosomal dominant; Albinism, oculocutaneous, type IB, 606952 (3), Autosomal recessive; Waardenburg syndrome/albinism, digenic, 103470 (3); Albinism, oculocutaneous, type IA, 203100 (3), Autosomal recessive Tyr (MGI:98880) -chr11 89324352 89589556 11q14.2-q21 11q14.3 605261 NOX4, RENOX NADPH oxidase 4 NOX4 50507 ENSG00000086991 Nox4 (MGI:1354184) -chr11 89637579 89698717 11p13-p11.1 11q14.3 609020 FOLH1B, PSMAL, GCP3 Folate hydrolase 1B FOLH1B 219595 ENSG00000134612 Folh1 (MGI:1858193) -chr11 89766435 89808574 11p11.12-q12 11q14.3 606124 RNF18 RING finger protein-18 TRIM49 57093 ENSG00000168930 Trim43b,Trim43c (MGI:3647365,MGI:3648996) -chr11 90085949 90087130 11q14.3 11q14.3 613696 UBTFL1, HMGPI Upstream binding transcription factor (RNA polymerase I)-like 1 UBTFL1 642623 ENSG00000255009 Ubtfl1 (MGI:3588290) -chr11 90131692 90193576 11q14.3-q21 11q14.3 611636 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 NAALAD2 10003 ENSG00000077616 Naalad2 (MGI:1919810) -chr11 90200428 90223081 11q14.3 11q14.3 604353 CHRODC1, CHP1 Cysteine- and histidine-rich domain-containing protein 1 CHORDC1 26973 ENSG00000110172 Chordc1 (MGI:1914167) -chr11 92224635 92896472 11q14.3-q21 11q14.3 612483 FAT3 FAT atypical cadherin 3 FAT3 120114 ENSG00000165323 Fat3 (MGI:2444314) -chr11 92969650 92986240 11q21-q22 11q14.3 600804 MTNR1B Melatonin receptor 1B MTNR1B 4544 ENSG00000134640 {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant Mtnr1b (MGI:2181726) -chr11 93000000 110600000 11q21-q22 613233 FGQTL3 Fasting plasma glucose level QTL 3 100379217 associated with rs10830963 [Fasting plasma glucose level QTL 3], 613233 (2) -chr11 93144173 93386037 11q14.3 11q21 613760 SLC36A4, PAT4 Solute carrier family 36, member 4 SLC36A4 120103 ENSG00000180773 Slc36a4 (MGI:2442595) -chr11 93329078 93438469 11q21 11q21 617148 DEUP1, CCDC67 Deuterosome assembly protein 1 DEUP1 159989 ENSG00000165325 Deup1 (MGI:2443026) -chr11 93478471 93553978 11q21 11q21 609477 C11orf75, FN5 FN5, pufferfish, homolog of SMCO4 56935 ENSG00000166002 Smco4 (MGI:3039636) -chr11 93661681 93730380 11q21 11q21 617728 CEP295, KIAA1731 Centrosomal protein, 295kD CEP295 85459 ENSG00000166004 Cep295 (MGI:2442521) -chr11 93730193 93741494 11q21 11q21 612823 TAF1D, RAFI41, JOSD3 TATA box-binding protein-associated factor 1D TAF1D 79101 ENSG00000166012 Taf1d (MGI:1922566) -chr11 93741671 93764748 11q21 11q21 615810 C11orf54, PTOD012 Chromosome 11 open reading frame 54 C11orf54 28970 ENSG00000182919 4931406C07Rik (MGI:1918234) -chr11 93784281 93814962 11q21 11q21 603810 MED17, CRSP6, CRSP77, TRAP80, DRIP80 Mediator complex subunit 17 MED17 9440 ENSG00000042429 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3), Autosomal recessive Med17 (MGI:2182585) -chr11 94021353 94114207 11q21 11q21 618455 HEPHL1, ZP, HJDD Hephaestin-like protein 1 HEPHL1 341208 ENSG00000181333 mutation identified in 1 HJDD patient ?Abnormal hair, joint laxity, and developmental delay, 261990 (3), Autosomal recessive Hephl1 (MGI:2685355) -chr11 94128840 94185595 11q21 11q21 608420 PANX1, PX1, OOMD7 Pannexin 1 PANX1 24145 ENSG00000110218 Oocyte maturation defect 7, 618550 (3), Autosomal dominant Panx1 (MGI:1860055) -chr11 94304579 94308145 11q21 11q21 615737 IZUMO1R, FOLR4 Izumo1 receptor, Juno IZUMO1R 390243 ENSG00000183560 Izumo1r (MGI:1929185) -chr11 94377315 94401418 11q21 11q21 605569 GPR83, GIR, GPR72 G protein-coupled receptor 83 GPR83 10888 ENSG00000123901 Gpr83 (MGI:95712) -chr11 94415569 94512700 11q21 11q21 600814 MRE11A, MRE11, ATLD MRE11 homolog, double-strand break repair nuclease MRE11 4361 ENSG00000020922 Ataxia-telangiectasia-like disorder 1, 604391 (3), Autosomal recessive Mre11a (MGI:1100512) -chr11 94543920 94549894 11q21 11q21 104230 FUT4, FCT3A, CD15 Fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) FUT4 2526 ENSG00000196371 Fut4 (MGI:95594) -chr11 94567367 94621420 11q12 11q21 610315 PIWIL4, HIWI2, MIWI2 PIWI-like 4 PIWIL4 143689 ENSG00000134627 Piwil4 (MGI:3041167) -chr11 94706417 94876747 11q21 11q21 614657 AMOTL1, JEAP Angiomotin-like 1 AMOTL1 154810 ENSG00000166025 Amotl1 (MGI:1922973) -chr11 94973708 94999518 11q21 11q21 609766 KDM4D, JMJD2D Lysine demethylase 4D KDM4D 55693 ENSG00000186280 Kdm4d (MGI:3606484) -chr11 95025257 95027595 11q21 11q21 616581 KDM4E, JMJD2E Lysine demethylase 4E KDM4E 390245 ENSG00000235268 Kdm4d (MGI:3606484) -chr11 95066876 95071224 11q22 11q21 603269 SRSF8, SFRS2B, SRp46 Splicing factor, arginine/serine-rich, 8 SRSF8 10929 ENSG00000263465 -chr11 95165512 95232535 11q21 11q21 607768 SEST3 Sestrin 3 SESN3 143686 ENSG00000149212 Sesn3 (MGI:1922997) -chr11 95790470 95832692 11q21 11q21 607951 CEP57, PIG8, TSP57, KIAA0092, MVA2 Centrosomal protein 57kD CEP57 9702 ENSG00000166037 Mosaic variegated aneuploidy syndrome 2, 614114 (3), Autosomal recessive Cep57 (MGI:1915551) -chr11 95832879 95924109 11q22 11q21 603557 MTMR2, CMT4B1 Myotubularin-related protein 2 MTMR2 8898 ENSG00000087053 Charcot-Marie-Tooth disease, type 4B1, 601382 (3), Autosomal recessive Mtmr2 (MGI:1924366) -chr11 95976597 96343307 11q21 11q21 607537 MAML2, MAM3 Mastermind-like 2 MAML2 84441 ENSG00000184384 t(11;19) Mucoepidermoid salivary gland carcinoma (3) Maml2 (MGI:2389460) -chr11 96341437 96341525 11q21 11q21 615372 MIR1260B Micro RNA 1260B MIR1260B 100422991 ENSG00000266192 -chr11 96390012 96393560 11q21 11q21 603211 JRKL, HHMJG JRK-like protein JRKL 8690 ENSG00000183340 Jrkl (MGI:1924782) -chr11 99020903 100358884 11q21-q22.2 11q22.1 607219 CNTN5, NB2 Contactin 5 CNTN5 53942 ENSG00000149972 Cntn5 (MGI:3042287) -chr11 100687287 100993940 11q22.1 11q22.1 615936 ARHGAP42, GRAF3 Rho GTPase-activating protein 42 ARHGAP42 143872 ENSG00000165895 Arhgap42 (MGI:1918794) -chr11 101029623 101130680 11q22 11q22.1 607311 PGR Progesterone receptor PGR 5241 ENSG00000082175 11q13 = earlier regionalization ?Progesterone resistance, 264080 (2), Autosomal recessive Pgr (MGI:97567) -chr11 101451469 101584006 11q21-q22 11q22.1 603652 TRPC6, TRP6, FSGS2 Transient receptor potential channel-6 TRPC6 7225 ENSG00000137672 Glomerulosclerosis, focal segmental, 2, 603965 (3), Autosomal dominant Trpc6 (MGI:109523) -chr11 101890673 101917049 11q22 11q22.1 607666 ANGPTL5 Angiopoietin-like 5 ANGPTL5 253935 ENSG00000187151 -chr11 101915009 102001061 11q22.1 11q22.1 614634 KIAA1377 KIAA1377 gene CEP126 57562 ENSG00000110318 Cep126 (MGI:2680221) -chr11 102047408 102084553 11q22.11 11q22.1 618058 CFAP300, C11orf70, CILD38 Cilia- and flagella-associated protein 300 CFAP300 85016 ENSG00000137691 Ciliary dyskinesia, primary, 38, 618063 (3), Autosomal recessive Cfap300 (MGI:3045346) -chr11 102109956 102233423 11q13 11q22.1 606608 YAP1, COB1 YES1-associated transcriptional regulator YAP1 10413 ENSG00000137693 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3), Autosomal dominant Yap1 (MGI:103262) -chr11 102317372 102339402 11q22-q23 11q22.2 601721 API2, HAIP1 Apoptosis inhibitor-2 BIRC3 330 ENSG00000023445 fused with MALT1 in MALT lymphoma Birc3 (MGI:1197007) -chr11 102347213 102378669 11q22-q23 11q22.2 601712 API1, HIAP2 Apoptosis inhibitor-1 BIRC2 329 ENSG00000110330 Birc2 (MGI:1197009) -chr11 102396331 102452764 11q22.1 11q22.2 606356 TMEM123, PORIMIN Transmembrane protein 123 TMEM123 114908 ENSG00000152558 Tmem123 (MGI:1919179) -chr11 102520507 102530746 11q21-q22 11q22.2 178990 MMP7 Matrix metalloproteinase 7 (matrilysin, uterine) MMP7 4316 ENSG00000137673 Mmp7 (MGI:103189) -chr11 102576831 102625331 11q22.3-q23 11q22.2 604629 MMP20, AI2A2 Matrix metalloproteinase-20 (enamelysin) MMP20 9313 ENSG00000137674 Amelogenesis imperfecta, type IIA2, 612529 (3), Autosomal recessive Mmp20 (MGI:1353466) -chr11 102690942 102705784 11q22.2 11q22.2 618101 MMP27 Matrix metalloproteinase 27 MMP27 64066 ENSG00000137675 Mmp27 (MGI:3039232) -chr11 102711795 102724966 11q21-q22 11q22.2 120355 MMP8, CLG1 Matrix metalloproteinase 8 (neutrophil collagenase) MMP8 4317 ENSG00000118113 Mmp8 (MGI:1202395) -chr11 102770501 102780627 11q22.3-q23 11q22.2 185260 MMP10, STMY2 Matrix metalloproteinase 10 (stromelysin 2) MMP10 4319 ENSG00000166670 Mmp10 (MGI:97007) -chr11 102789918 102798159 11q22-q23 11q22.2 120353 MMP1, CLG Matrix metalloproteinase 1 (interstitial collagenase) MMP1 4312 ENSG00000196611 COPD, rate of decline of lung function in, 606963 (3); {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3), Autosomal recessive Mmp1a,Mmp1b (MGI:1933847,MGI:1933846) -chr11 102835800 102843608 11q23 11q22.2 185250 MMP3, STMY1, CHDS6 Matrix metalloproteinase 3 (stromelysin 1, progelatinase) MMP3 4314 ENSG00000149968 {Coronary heart disease, susceptibility to, 6}, 614466 (3) Mmp3 (MGI:97010) -chr11 102862735 102874981 11q22.2-q22.3 11q22.2 601046 MMP12 Matrix metalloproteinase 12 (macrophage elastase) MMP12 4321 ENSG00000262406 Mmp12 (MGI:97005) -chr11 102942994 102955731 11q22.3 11q22.2 600108 MMP13, CLG3, MANDP1, MDST Matrix metalloproteinase 13 (collagenase 3) MMP13 4322 ENSG00000137745 mutation identified in 1 SEMDM family ?Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3), Autosomal dominant; Metaphyseal anadysplasia 1, 602111 (3), Autosomal dominant; Metaphyseal dysplasia, Spahr type, 250400 (3), Autosomal recessive Mmp13 (MGI:1340026) -chr11 103000000 135086622 11q22-qter 105580 ANC Anal canal carcinoma 8066 3p22 also deleted ?Anal canal carcinoma, 105580 (2), Autosomal dominant -chr11 103050685 103092214 11q22.3 11q22.3 616522 DCUN1D5, SCCRO5 DCN1 domain-containing protein 5 DCUN1D5 84259 ENSG00000137692 Dcun1d5 (MGI:1924113) -chr11 103109425 103479862 11q22.3 11q22.3 603297 DYNC2H1, DNCH2, DHC2, ATD3, SRPS2B, SRTD3 Dynein, cytoplasmic-2, heavy chain-1 DYNC2H1 79659 ENSG00000187240 1 patient showed heterozygous NEK2 and DYNC2H1 mutations Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3), Digenic recessive, Autosomal recessive Dync2h1 (MGI:107736) -chr11 103907188 104164146 11q22.3 11q22.3 609673 PDGFD, SCDGFB, IEGF Platelet-derived growth factor D PDGFD 80310 ENSG00000170962 Pdgfd (MGI:1919035) -chr11 104885717 104898459 11q22.3 11q22.3 608633 CASP12, CASP12P1 Caspase 12, apoptosis-related cysteine protease CASP12 100506742 ENSG00000204403 {Sepsis, susceptibility to} (3) Casp12 (MGI:1312922) -chr11 104942865 104968595 11q22.2-q22.3 11q22.3 602664 CASP4 Caspase 4, apoptosis-related cysteine protease CASP4 837 ENSG00000196954 Casp4 (MGI:107700) -chr11 104994242 105023167 11q22.2-q22.3 11q22.3 602665 CASP5 Caspase 5, apoptosis-related cysteine protease CASP5 838 ENSG00000137757 Casp4 (MGI:107700) -chr11 105025442 105035590 11q22.2-q22.3 11q22.3 147678 CASP1, IL1BC Caspase 1, apoptosis-related cysteine protease (interleukin-1, beta convertase) CASP1 834 ENSG00000137752 Casp1 (MGI:96544) -chr11 105040217 105045415 11q22 11q22.3 615680 CARD16, COP1 Caspase recruitment domain-containing protein 16 CARD16 114769 ENSG00000204397 -chr11 105080452 105101491 11q22 11q22.3 609490 INCA Inhibitory caspase recruitment domain protein CARD17 440068 -chr11 105137713 105139768 11q22.3 11q22.3 605354 CARD18, ICEBERG Caspase recruitment domain-containing protein 18 CARD18 59082 ENSG00000255501 -chr11 105609539 105982089 11q22-q23 11q22.3 138246 GRIA4, GLUR4, NEDSGA Glutamate receptor, ionotropic, AMPA 4 GRIA4 2893 ENSG00000152578 Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3), Autosomal dominant Gria4 (MGI:95811) -chr11 106077604 106098694 11q22.3 11q22.3 607756 AASDHPPT Alpha-aminoadipate semialdehyde dehydrogenase-phosphopantetheinyl transferase AASDHPPT 60496 ENSG00000149313 Aasdhppt (MGI:1914868) -chr11 106674018 107018475 11q21-q22 11q22.3 601244 GUCY1A2, GUC1A2 Guanylate cyclase 1, soluble, alpha 2 GUCY1A2 2977 ENSG00000152402 Gucy1a2 (MGI:2660877) -chr11 107502725 107565736 11q22.3 11q22.3 613306 ALKBH8, ABH8, MRT71 AlkB homolog 8, tRNA methyltransferase ALKBH8 91801 ENSG00000137760 Intellectual developmental disorder, autosomal recessive 71, 618504 (3), Autosomal recessive Alkbh8 (MGI:1914917) -chr11 107591008 107666778 11q22.3 11q22.3 615456 ELMOD1 ELMO/CED12 domain-containing protein 1 ELMOD1 55531 ENSG00000110675 Elmod1 (MGI:3583900) -chr11 107707377 107712055 11q22-q23 11q22.3 602203 SLN Sarcolipin SLN 6588 ENSG00000170290 Sln (MGI:1913652) -chr11 108008732 108107765 11q22-q23 11q22.3 601741 CUL5, VACM1 Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1) CUL5 8065 ENSG00000166266 Cul5 (MGI:1922967) -chr11 108116704 108148821 11q22.3-q23.1 11q22.3 607809 ACAT1 Acetyl-Coenzyme A acetyltransferase-1 (acetoacetyl Coenzyme A thiolase) ACAT1 38 ENSG00000075239 cluster: cen-STMY2-CLG-STMY1-ter Alpha-methylacetoacetic aciduria, 203750 (3), Autosomal recessive Acat1 (MGI:87870) -chr11 108155279 108222637 11q22.3 11q22.3 601448 NPAT, E14 Nuclear protein, ataxia-telangiectasia locus NPAT 4863 ENSG00000149308 Npat (MGI:107605) -chr11 108222483 108369101 11q22.3 11q22.3 607585 ATM, ATA, AT1 ATM serine/threonine kinase ATM 472 ENSG00000149311 Lymphoma, B-cell non-Hodgkin, somatic (3); Ataxia-telangiectasia, 208900 (3), Autosomal recessive; {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; T-cell prolymphocytic leukemia, somatic (3); Lymphoma, mantle cell, somatic (3) Atm (MGI:107202) -chr11 108472115 108498383 11q22.3 11q22.3 618503 POGLUT3, KDELC2 Protein O-glucosyltransferase 3 POGLUT3 143888 ENSG00000178202 Poglut3 (MGI:1923765) -chr11 108505430 108607513 11q22.3 11q22.3 612878 EXPH5, SLAC2B, KIAA0624 Exophilin 5 EXPH5 23086 ENSG00000110723 Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3), Autosomal recessive Exph5 (MGI:2443248) -chr11 108665068 108940926 11q22-q23 11q22.3 601235 DDX10 DEAD-box helicase 10 DDX10 1662 ENSG00000178105 400kb telomeric to ATM; pseudogene on 9q21-q22; fused with NUP98 in AML Ddx10 (MGI:1924841) -chr11 110092424 110171840 11q22.3 11q22.3 615001 ZC3H12C, MCPIP3 Zinc finger CCCH domain-containing protein 12C ZC3H12C 85463 ENSG00000149289 Zc3h12c (MGI:3026959) -chr11 110174921 110296613 11q23 11q22.3 179410 RDX, DFNB24 Radixin RDX 5962 ENSG00000137710 Deafness, autosomal recessive 24, 611022 (3), Autosomal recessive Rdx (MGI:97887) -chr11 110429947 110464883 11q22 11q22.3 103260 FDX1, ADX Ferredoxin-1 (adrenodoxin) FDX1 2230 ENSG00000137714 pseudogene on 20q11-q12 Fdx1 (MGI:103224) -chr11 110577034 110713188 11q22.3-q23.1 11q22.3-q23.1 609568 ARHGAP20, KIAA1391 Rho GTPase-activating protein 20 ARHGAP20 57569 ENSG00000137727 Arhgap20 (MGI:2445175) -chr11 110600000 112700000 11q23.1 132860 EBVM1 Epstein-Barr virus modification site-1 -chr11 110600000 114600000 11q23.1-q23.2 194630 ZNF123P, ZNF123 Zinc finger protein 123, pseudogene ZNF123P 100188891 ENSG00000255259 -chr11 110600000 114600000 11q23.1-q23.2 194632 ZNF125 Zinc finger protein-125 (HZF-3) -chr11 111293388 111305047 11q23 11q23.1 615693 COLCA1 Colorectal cancer-associated gene 1 COLCA1 399948 ENSG00000196167 -chr11 111298348 111308734 11q23 11q23.1 615694 COLCA2 Colorectal cancer-associated gene 2 COLCA2 120376 ENSG00000214290 opposite strand from COLCA1 Colca2 (MGI:2685530) -chr11 111352250 111379670 11q23.1 11q23.1 601206 POU2AF1, OBF1 POU domain, class 2, associating factor 1 POU2AF1 5450 ENSG00000110777 Pou2af1 (MGI:105086) -chr11 111383827 111514733 11q23 11q23.1 605673 BTG4, PC3B, OOMD8 BTG antiproliferation factor 4 BTG4 54766 ENSG00000137707 Oocyte maturation defect 8, 619009 (3), Autosomal recessive Btg4 (MGI:1860140) -chr11 111512937 111513020 11q23.1 11q23.1 611374 MIR34B Micro RNA 34B MIR34B 407041 ENSG00000207811 Mir34b (MGI:3619364) -chr11 111513438 111513514 11q23.1 11q23.1 611375 MIR34C Micro RNA 34C MIR34C 407042 ENSG00000207562 Mir34c (MGI:3619365) -chr11 111540279 111561744 11q23.1 11q23.1 618843 LAYN Layilin LAYN 143903 ENSG00000204381 Layn (MGI:2685357) -chr11 111602448 111730854 11q23.1 11q23.1 608973 SIK2, KIAA0781 Salt-inducible kinase 2 SIK2 23235 ENSG00000170145 Sik2 (MGI:2445031) -chr11 111690272 111766388 11q22-q24 11q23.1 603113 PPP2R1B Protein phosphatase 2, structural/regulatory subunit A, beta PPP2R1B 5519 ENSG00000137713 Lung cancer, somatic, 211980 (3) Ppp2r1b (MGI:1920949) -chr11 111776095 111871580 11q23 11q23.1 606941 ALG9, DIBD1, CDG1L, GIKANIS ALG9 alpha-1,2-mannosyltransferase ALG9 79796 ENSG00000086848 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3), Autosomal recessive; Congenital disorder of glycosylation, type Il, 608776 (3), Autosomal recessive Alg9 (MGI:1924753) -chr11 111908563 111923739 11q22.3-q23.1 11q23.1 123590 CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2 Crystallin, alpha B CRYAB 1410 ENSG00000109846 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3), Autosomal recessive; Myopathy, myofibrillar, 2, 608810 (3), Autosomal dominant; Cataract 16, multiple types, 613763 (3), Autosomal dominant, Autosomal recessive; Cardiomyopathy, dilated, 1II, 615184 (3), Autosomal dominant Cryab (MGI:88516) -chr11 111912733 111914092 11q22-q23 11q23.1 602179 HSPB2 Heat-shock 27kD protein-2 HSPB2 3316 ENSG00000170276 Hspb2 (MGI:1916503) -chr11 111927168 112022652 11q23.1 11q23.1 610493 DIXDC1, CCD1, KIAA1735 DIX domain-containing protein 1 DIXDC1 85458 ENSG00000150764 Dixdc1 (MGI:2679721) -chr11 112025407 112064403 11q23.1 11q23.1 608770 DLAT, PDCE2 Dihydrolipoamide S-acetyltransferase DLAT 1737 ENSG00000150768 Pyruvate dehydrogenase E2 deficiency, 245348 (3), Autosomal recessive Dlat (MGI:2385311) -chr11 112084799 112086755 11q23.1 11q23.1 606659 TIMM8B, DDP2 Translocase of inner mitochondrial membrane 8B TIMM8B 26521 ENSG00000150779 Timm8b (MGI:1353424) -chr11 112086872 112095793 11q23 11q23.1 602690 SDHD, PGL1, MC2DN3 Succinate dehydrogenase complex, subunit D, integral membrane protein SDHD 6392 ENSG00000204370 Paragangliomas 1, with or without deafness, 168000 (3), Autosomal dominant; Paraganglioma and gastric stromal sarcoma, 606864 (3); Mitochondrial complex II deficiency, nuclear type 3, 619167 (3), Autosomal recessive; Pheochromocytoma, 171300 (3), Autosomal dominant Sdhd (MGI:1914175) -chr11 112143250 112164103 11q22.2-q22.3 11q23.1 600953 IL18, IGIF Interleukin-18 IL18 3606 ENSG00000150782 Il18 (MGI:107936) -chr11 112167371 112172555 Chr.11 11q23.1 605791 TEX12 Testis-expressed gene 12 TEX12 56158 ENSG00000150783 Tex12 (MGI:1913904) -chr11 112175511 112218945 11q22.3-q23.1 11q23.1 611740 BCO2, BCDO2 Beta-carotene oxygenase 2 BCO2 83875 ENSG00000197580 Bco2 (MGI:2177469) -chr11 112226427 112233972 11q22.3-q23.3 11q23.1 612719 PTS 6-pyruvoyltetrahydropterin synthase PTS 5805 ENSG00000150787 Hyperphenylalaninemia, BH4-deficient, A, 261640 (3), Autosomal recessive Pts (MGI:1338783) -chr11 112248152 112260859 11q23.2 11q23.1 611904 C11orf34, PLET1 Chromosome 11 open reading frame 34 PLET1 349633 ENSG00000188771 Plet1 (MGI:1923759) -chr11 112961419 113278435 11q23.1 11q23.2 116930 NCAM1, MSK39 Neural cell adhesion molecule 1 NCAM1 4684 ENSG00000149294 defective in "staggerer" in mice Ncam1 (MGI:97281) -chr11 113314568 113385951 11q23.2 11q23.2 610732 TTC12, TPARM, CILD45 Tetratricopeptide repeat domain 12 TTC12 54970 ENSG00000149292 Ciliary dyskinesia, primary, 45, 618801 (3), Autosomal recessive Ttc12 (MGI:2444588) -chr11 113386013 113400415 11q23.2 11q23.2 608774 ANKK1 Ankyrin repeat and kinase domain containing 1 ANKK1 255239 ENSG00000170209 Ankk1 (MGI:3045301) -chr11 113409604 113475397 11q23.1 11q23.2 126450 DRD2 Dopamine receptor D2 DRD2 1813 ENSG00000149295 11q22-q23 junction; 150kb 5' to NCAM; centromeric to APOA1; telomeric to STMY1 Drd2 (MGI:94924) -chr11 113687547 113709810 11q23.3 11q23.2 606751 TMPRSS5 Transmembrane protease, serine 5 TMPRSS5 80975 ENSG00000166682 Tmprss5 (MGI:1933407) -chr11 113733182 113773698 11q23.2 11q23.2 603954 ZW10 ZW10 kinetochore protein ZW10 9183 ENSG00000086827 Zw10 (MGI:1349478) -chr11 113797874 113875571 11q23 11q23.2 610748 USP28, KIAA1515 Ubiquitin-specific protease 28 USP28 57646 ENSG00000048028 Usp28 (MGI:2442293) -chr11 113898922 113949118 11q23.1 11q23.2 604654 HTR3B 5-hydroxytryptamine receptor 3B HTR3B 9177 ENSG00000149305 Htr3b (MGI:1861899) -chr11 113975107 113990312 11q23.1-q23.2 11q23.2 182139 HTR3 5-hydroxytryptamine (serotonin) receptor-3 HTR3A 3359 ENSG00000166736 Htr3a (MGI:96282) -chr11 114059575 114256769 11q23.1 11q23.2 176797 ZBTB16, ZNF145, PLZF Zinc finger- and BTB domain-containing protein 16 (promyelocytic leukemia zinc finger) ZBTB16 7704 ENSG00000109906 fused with RARA in APL of t(11;17) type Leukemia, acute promyelocytic, PL2F/RARA type (3); Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3), Autosomal recessive Zbtb16 (MGI:103222) -chr11 114257805 114313535 11q23.1 11q23.2 600008 NNMT Nicotinamide N-methyltransferase NNMT 4837 ENSG00000166741 Homocysteine plasma level, 600008 (2) Nnmt (MGI:1099443) -chr11 114400665 114410606 11q23.1-q23.2 11q23.2 612413 RBM7 RNA-binding motif protein 7 RBM7 10179 ENSG00000076053 Rbm7 (MGI:1914260) -chr11 114439466 114450278 11q23.1-q23.2 11q23.2 607149 REXO2, RFN RNA exonuclease 2, S. cerevisiae, homolog of REXO2 25996 ENSG00000076043 Rexo2 (MGI:1888981) -chr11 114570590 114596214 11q23.2 11q23.2 618133 NXPE4, C11orf33 Neurexophilin and PC-esterase domain family, member 4 NXPE4 54827 ENSG00000137634 Nxpe4 (MGI:1924792) -chr11 114600000 130900000 11q23.3-q24 607086 AAT1, FAA1 Aortic aneurysm, familial thoracic 1 252842 Aortic aneurysm, familial thoracic 1, 607086 (2) -chr11 114600000 130900000 11q23-q24 612629 ADIPQTL4 Adiponectin, serum level of, quantitative trait locus locus 4 100271698 between D11S925 and D11S968 {Adiponectin, serum level of, QTL4}, 612629 (2) -chr11 114600000 121300000 11q23 609354 BMND5 Bone mineral density QTL 5 554315 between D11S901 and D11S925 [Bone mineral density QTL 5], 609354 (2) -chr11 114600000 121300000 11q23 612232 CRCS7 Colorectal cancer, susceptibility to, 7 100187711 associated with rs3802842 {Colorectal cancer, susceptibility to, 7}, 612232 (2) -chr11 114600000 121300000 11q23 137580 GTS Gilles de la Tourette syndrome several loci suspected (e.g., 17q25) Tourette syndrome, 137580 (2), Autosomal dominant -chr11 114600000 121300000 11q23.3 605201 HDLCQ14, HYLAP High density lipoprotein cholesterol level quantitative trait locus 14 56801 High density lipoprotein cholesterol level QTL14, 605201 (2) -chr11 114600000 135086622 11q23.3-q25 147791 JBS Jacobsen syndrome contiguous gene deletion syndrome Jacobsen syndrome, 147791 (4), Isolated cases -chr11 114600000 121300000 11q23 613387 NAFLD2 Fatty liver disease, nonalcoholic, susceptibility to, 2 100462725 associated with rs2854116, rs2854117 {Fatty liver disease, nonalcoholic, susceptibility to, 2}, 613387 (2), Multifactorial -chr11 114600000 121300000 11q23 188025 TCPT Thrombocytopenia, Paris-Trousseau type (deletion 11q23 syndrome) contiguous gene deletion of 11q23 ?Thrombocytopenia, Paris-Trousseau type, 188025 (4), Isolated cases -chr11 114600000 121300000 11q23 603040 TSG11 Tumor suppressor gene on chromosome 11 50970 {Nonsmall cell lung cancer}, 603040 (2) -chr11 115169235 115504427 11q23.2 11q23.3 605686 CADM1, IGSF4, TSLC1 Cell adhesion molecule 1 CADM1 23705 ENSG00000182985 Cadm1 (MGI:1889272) -chr11 116773798 116789271 11q23.3 11q23.3 603901 ZPR1, ZNF259, GKAF ZPR1 zinc finger protein ZPR1 8882 ENSG00000109917 mutation identified in 1 GKAF patient ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, 619321 (3), Autosomal recessive Zpr1 (MGI:1330262) -chr11 116789366 116792419 11q23 11q23.3 606368 APOA5 Apolipoprotein A-V APOA5 116519 ENSG00000110243 proximal to APOA1, APOC3, APOA4 Hyperchylomicronemia, late-onset, 144650 (3), Autosomal dominant; {Hypertriglyceridemia, susceptibility to}, 145750 (3), Autosomal dominant Apoa5 (MGI:1913363) -chr11 116820699 116823303 11q23 11q23.3 107690 APOA4 Apolipoprotein A-IV APOA4 337 ENSG00000110244 12 kb 3' to APOA1 Apoa4 (MGI:88051) -chr11 116829906 116833071 11q23 11q23.3 107720 APOC3, HALP2 Apolipoprotein C-III APOC3 345 ENSG00000110245 2.6kb 3' to APOA1 Apolipoprotein C-III deficiency, 614028 (3) Apoc3 (MGI:88055) -chr11 116835750 116837949 11q23 11q23.3 107680 APOA1, HPALP2 Apolipoprotein A-I APOA1 335 ENSG00000118137 Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding, 618463 (3); Amyloidosis, 3 or more types, 105200 (3), Autosomal dominant; ApoA-I and apoC-III deficiency, combined, 618463 (3) Apoa1 (MGI:88049) -chr11 116843401 117098452 11q23.3 11q23.3 614776 SIK3, KIAA0999, SEMDK Salt-inducible kinase 3 SIK3 23387 ENSG00000160584 mutation identified in 1 SEMDK family ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3), Autosomal recessive Sik3 (MGI:2446296) -chr11 117144286 117178172 11q23 11q23.3 602508 PAFAH1B2 Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit PAFAH1B2 5049 ENSG00000168092 Pafah1b2 (MGI:108415) -chr11 117178742 117197441 11q23.3 11q23.3 617551 SIDT2 SID1 transmembrane family, member 2 SIDT2 51092 ENSG00000149577 Sidt2 (MGI:2446134) -chr11 117199293 117207464 11q23.2 11q23.3 600818 TAGLN, SMCC, SM22 Transgelin TAGLN 6876 ENSG00000149591 Tagln (MGI:106012) -chr11 117201155 117232524 11q23.3 11q23.3 604872 PCSK7, PC8, PC7, LPC Proprotein convertase, subtilisin/kexin-type, 7 PCSK7 9159 ENSG00000160613 Pcsk7 (MGI:107421) -chr11 117285697 117316255 11q23.3 11q23.3 604252 BACE1, BACE Beta-site amyloid beta A4 precursor protein-cleaving enzyme (secretase, beta; memapsin 2) BACE1 23621 ENSG00000186318 Bace1 (MGI:1346542) -chr11 117291345 117292169 11q23.3 11q23.3 614263 BACE1AS BACE1 antisense RNA BACE1-AS 100379571 -chr11 117316345 117413265 11q23.3 11q23.3 614848 CEP164, KIAA1052 Centrosomal protein, 164kD CEP164 22897 ENSG00000110274 Nephronophthisis 15, 614845 (3), Autosomal recessive Cep164 (MGI:2384878) -chr11 117427771 117817513 11q23 11q23.3 611782 DSCAML1, KIAA1132, DSCAM2 DS cell adhesion molecule-like 1 DSCAML1 57453 ENSG00000177103 Dscaml1 (MGI:2150309) -chr11 117820056 117828088 11q23 11q23.3 601814 FXYD2, ATP1G1, HOMG2 FXYD domain-containing ion transport regulator 2 (sodium-potassium-ATPase, gamma polypeptide) FXYD2 486 ENSG00000137731 Hypomagnesemia 2, renal, 154020 (3), Autosomal dominant Fxyd2 (MGI:1195260) -chr11 117836980 117877429 Chr.11 11q23.3 606683 FXYD6 FXYD domain-containing ion transport regulator 6 FXYD6 53826 ENSG00000137726 Fxyd6 (MGI:1890226) -chr11 117900640 117929401 11q23 11q23.3 610050 TMPRSS13, MSPL, MSPS Transmembrane protease, serine 13 TMPRSS13 84000 ENSG00000137747 Tmprss13 (MGI:2682935) -chr11 117986393 118003036 11q23.3 11q23.3 146933 IL10RA, IL10R, IBD28 Interleukin-10 receptor, alpha IL10RA 3587 ENSG00000110324 Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3), Autosomal recessive Il10ra (MGI:96538) -chr11 118077015 118125504 11q23.3 11q23.3 606565 TMPRSS4 Transmembrane protease, serine 4 TMPRSS4 56649 ENSG00000137648 Tmprss4 (MGI:2384877) -chr11 118133376 118152822 11q23 11q23.3 608256 SCN4B, LQT10, ATFB17 Sodium voltage-gated channel, beta subunit 4 SCN4B 6330 ENSG00000177098 Atrial fibrillation, familial, 17, 611819 (3), Autosomal dominant; Long QT syndrome 10, 611819 (3), Autosomal dominant Scn4b (MGI:2687406) -chr11 118162805 118176638 11q23 11q23.3 601327 SCN2B, ATFB14 Sodium voltage-gated channel, beta subunit 1 SCN2B 6327 ENSG00000149575 Atrial fibrillation, familial, 14, 615378 (3), Autosomal dominant Scn2b (MGI:106921) -chr11 118193724 118225088 11q23 11q23.3 609770 JAML, AMICA1 Junctional adhesion molecule-like JAML 120425 ENSG00000160593 Jaml (MGI:2685484) -chr11 118226689 118252364 11q23.3 11q23.3 611707 MPZL3 Myelin protein zero-like 3 MPZL3 196264 ENSG00000160588 Mpzl3 (MGI:2442647) -chr11 118253415 118264296 11q24 11q23.3 604873 MPZL2, EVA1, EVA, DFNB111 Myelin protein zero-like 2 MPZL2 10205 ENSG00000149573 Deafness, autosomal recessive 111, 618145 (3), Autosomal recessive Mpzl2 (MGI:1289160) -chr11 118304729 118316172 11q23 11q23.3 186830 CD3E, IMD18 CD3E antigen, epsilon polypeptide (TiT3 complex) CD3E 916 ENSG00000198851 Immunodeficiency 18, 615615 (3), Autosomal recessive; Immunodeficiency 18, SCID variant, 615615 (3), Autosomal recessive Cd3e (MGI:88332) -chr11 118338953 118342704 11q23 11q23.3 186790 CD3D, T3D, IMD19 CD3D antigen, delta polypeptide (TiT3 complex) CD3D 915 ENSG00000167286 3 CD3 genes in 50kb Immunodeficiency 19, 615617 (3), Autosomal recessive Cd3d (MGI:88331) -chr11 118344343 118355160 11q23 11q23.3 186740 CD3G, IMD17 CD3G antigen, gamma polypeptide (TiT3 complex) CD3G 917 ENSG00000160654 Immunodeficiency 17, CD3 gamma deficient, 615607 (3), Autosomal recessive Cd3g (MGI:88333) -chr11 118359599 118399210 Chr.11 11q23.3 603753 UBE4A, UFD2, E4 Ubiquitination factor E4A UBE4A 9354 ENSG00000110344 Ube4a (MGI:2154580) -chr11 118401605 118409846 11q22.3 11q23.3 617473 ATP5JG ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G ATP5MG 10632 ENSG00000167283 Atp5l,Gm10221 (MGI:1351597,MGI:3708709) -chr11 118436491 118526831 11q23 11q23.3 159555 KMT2A, MLL, HRX, WDSTS Lysine-specific methyltransferase 2E KMT2A 4297 ENSG00000118058 fuses with ENL, AF4, AF9, GMPS Wiedemann-Steiner syndrome, 605130 (3), Autosomal dominant Kmt2a (MGI:96995) -chr11 118531188 118547285 11q23.3 11q23.3 613934 TMEM25 Transmembrane protein 25 TMEM25 84866 ENSG00000149582 Tmem25 (MGI:1918937) -chr11 118572395 118603032 11q23.3 11q23.3 600820 ARCN1, SRMMD Archain 1 ARCN1 372 ENSG00000095139 60kb telomeric to MLL Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3), Autosomal dominant Arcn1 (MGI:2387591) -chr11 118606295 118658027 11q23.3 11q23.3 612834 PHLDB1, LL5A, KIAA0638 Pleckstrin homology-like domain, family B, member 1 PHLDB1 23187 ENSG00000019144 Phldb1 (MGI:2143230) -chr11 118657315 118679649 11q23 11q23.3 275360 TREH, TREHD Trehalase TREH 11181 ENSG00000118094 Trehalase deficiency, 612119 (3), Autosomal recessive Treh (MGI:1926230) -chr11 118747762 118791695 11q23.3 11q23.3 600326 DDX6, HLR2, IDDILF DEAD-box helicase 6 DDX6 1656 ENSG00000110367 Intellectual developmental disorder with impaired language and dysmorphic facies, 618653 (3), Autosomal dominant Ddx6 (MGI:104976) -chr11 118883891 118897786 11q23.3 11q23.3 601613 CXCR5, BLR1 Chemokine, CXC motif, receptor 5 CXCR5 643 ENSG00000160683 Cxcr5 (MGI:103567) -chr11 118896135 118926070 11q23.3 11q23.3 609004 BCL9L B-cell CLL/lymphoma 9-like BCL9L 283149 ENSG00000186174 Bcl9l (MGI:1933114) -chr11 118956297 118958558 11q23.3 11q23.3 611558 UPK2, UP2, UPII Uroplakin 2 UPK2 7379 ENSG00000110375 Upk2 (MGI:98913) -chr11 118971397 118981600 11q23.3 11q23.3 615755 FOXR1, FOXN5 Forkhead box R1 FOXR1 283150 ENSG00000176302 Foxr1 (MGI:2685961) -chr11 119015716 119018342 11q23.3 11q23.3 180465 RPS25 Ribosomal protein S25 RPS25 6230 ENSG00000118181 Rps25 (MGI:1922867) -chr11 119018765 119024133 11q23.3 11q23.3 610971 TRAPPC4, NEDESBA Trafficking protein particle complex, subunit 4 (synbindin) TRAPPC4 51399 ENSG00000196655 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741 (3), Autosomal recessive Trappc4 (MGI:1926211) -chr11 119024111 119030876 11q23 11q23.3 602671 SLC37A4, G6PT1 Solute carrier family 37 (glucose-6-phosphate transporter), member 4 SLC37A4 2542 ENSG00000137700 Glycogen storage disease Ib, 232220 (3), Autosomal recessive; Glycogen storage disease Ic, 232240 (3), Autosomal recessive Slc37a4 (MGI:1316650) -chr11 119044186 119057204 11q23.3 11q23.3 601746 HYOU1, IMD59 Hypoxia-upregulated 1 HYOU1 10525 ENSG00000149428 mutation identified in 1 IMD59 patient ?Immunodeficiency 59 and hypoglycemia, 233600 (3), Autosomal recessive Hyou1 (MGI:108030) -chr11 119067791 119081971 11q23.3 11q23.3 608549 VPS11, HLD12 VPS11 core subunit of CORVET and HOPS complexes VPS11 55823 ENSG00000160695 Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive Vps11 (MGI:1918982) -chr11 119084863 119093548 11q23.3 11q23.3 609806 HMBS, PBGD, UPS Hydroxymethylbilane synthase HMBS 3145 ENSG00000256269 Porphyria, acute intermittent, nonerythroid variant, 176000 (3), Autosomal dominant; Porphyria, acute intermittent, 176000 (3), Autosomal dominant Hmbs (MGI:96112) -chr11 119093873 119095464 11q23.2-q23.3 11q23.3 601772 H2AX H2AX histone H2AX 3014 ENSG00000188486 H2ax (MGI:102688) -chr11 119096504 119101883 11q23.3 11q23.3 191350 DPAGT1, DPAGT2, DGPT, CDG1J, CMSTA2, CMS13 Dolichyl-phosphate N-acetylglucosamine phosphotransferase DPAGT1 1798 ENSG00000172269 Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3), Autosomal recessive; Congenital disorder of glycosylation, type Ij, 608093 (3), Autosomal recessive Dpagt1 (MGI:1196396) -chr11 119106749 119118543 11q23.3 11q23.3 617582 C2CD2L, TMEM24 C2 calcium-dependent domain-containing protein 2-like C2CD2L 9854 ENSG00000172375 C2cd2l (MGI:1919014) -chr11 119121576 119136058 11q23.3 11q23.3 607099 HINFP, MIZF Histone H4 transcription factor HINFP 25988 ENSG00000172273 Hinfp (MGI:2429620) -chr11 119149051 119162665 11q23.3 11q23.3 607784 ABCG4, WHITE2 ATP-binding cassette, subfamily G, member 4 ABCG4 64137 ENSG00000172350 Abcg4 (MGI:1890594) -chr11 119168333 119184015 11q23.3 11q23.3 611947 NLRX1, NOD9, CLR11.3 NLR family member X1 NLRX1 79671 ENSG00000160703 Nlrx1 (MGI:2429611) -chr11 119185456 119190217 11q23 11q23.3 607146 PDZD3, IKEPP PDZ domain-containing 3 PDZD3 79849 ENSG00000172367 Pdzd3 (MGI:2429554) -chr11 119206338 119308148 11q23.3 11q23.3 165360 CBL, CBL2, NSLL CBL protooncogene CBL 867 ENSG00000110395 mutation identified in 1 JMML family Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3), Autosomal dominant; ?Juvenile myelomonocytic leukemia, 607785 (3), Somatic mutation, Autosomal dominant Cbl (MGI:88279) -chr11 119305758 119317129 11q23.3 11q23.3 155735 MCAM, MUC18, CD146 Melanoma adhesion molecule MCAM 4162 ENSG00000076706 Mcam (MGI:1933966) -chr11 119334526 119337308 11q23 11q23.3 606130 RNF26 RING finger protein-26 RNF26 79102 ENSG00000173456 Rnf26 (MGI:2388131) -chr11 119338941 119346704 11q23.3 11q23.3 608752 C1QTNF5, CTRP5, LORD C1q- and tumor necrosis factor-related protein 5 C1QTNF5 114902 ENSG00000223953 Retinal degeneration, late-onset, autosomal dominant, 605670 (3), Autosomal dominant C1qtnf5 (MGI:2385958) -chr11 119338941 119346704 11q23 11q23.3 606227 MFRP, MCOP5, NNO2 Membrane-type frizzled-related protein MFRP 83552 ENSG00000235718 Microphthalmia, isolated 5, 611040 (3), Autosomal recessive; Nanophthalmos 2, 609549 (3) C1qtnf5,Mfrp (MGI:2385957,MGI:2385958) -chr11 119355214 119381689 11q23.3 11q23.3 604725 USP2, UBP41 Ubiquitin-specific protease 2 USP2 9099 ENSG00000036672 Usp2 (MGI:1858178) -chr11 119415475 119424984 11q23.3 11q23.3 188230 THY1 Thy-1 T-cell antigen THY1 7070 ENSG00000154096 Thy1 (MGI:98747) -chr11 119638097 119729199 11q23-q24 11q23.3 600644 NECTIN1, PVRL1, HVEC, PVRR1, PRR1, ED4, OFC7, CLPED1 Nectin 1 NECTIN1 5818 ENSG00000110400 Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3), Autosomal recessive; Orofacial cleft 7, 225060 (3), Autosomal recessive Nectin1 (MGI:1926483) -chr11 120111285 120138112 11q23.3 11q23.3 610658 TRIM29, ATDC Tripartite motif-containing protein 29 TRIM29 23650 ENSG00000137699 Trim29 (MGI:1919419) -chr11 120236637 120319944 11q23.3 11q23.3 607394 POU2F3, OCT11 POU domain, class 2, transcription factor 3 POU2F3 25833 ENSG00000137709 Pou2f3 (MGI:102565) -chr11 120336275 120489936 11q23.3 11q23.3 604763 ARHGEF12, LARG, KIAA0382 Rho guanine nucleotide exchange factor 12, leukemia-associated ARHGEF12 23365 ENSG00000196914 fused with MLL in AML Arhgef12 (MGI:1916882) -chr11 120511747 120988905 11q22.3 11q23.3 600282 GRIK4 Glutamate receptor, ionotropic, kainate 4 GRIK4 2900 ENSG00000149403 Grik4 (MGI:95817) -chr11 121024101 121090775 11q23.3 11q23.3 610451 LRRC35, EL Leucine-rich repeat-containing protein 35 TBCEL 219899 ENSG00000154114 Tbcel (MGI:1925543) -chr11 121101242 121191489 11q22-q24 11q23.3 602574 TECTA, DFNA8, DFNA12, DFNB21 Tectorin, alpha TECTA 7007 ENSG00000109927 Deafness, autosomal dominant 8/12, 601543 (3), Autosomal dominant; Deafness, autosomal recessive 21, 603629 (3), Autosomal recessive Tecta (MGI:109575) -chr11 121292770 121313409 11q23.3 11q23.3-q24.1 602286 SC5D, ERG3 Sterol C5-desaturase SC5D 6309 ENSG00000109929 Lathosterolosis, 607330 (3), Autosomal recessive Sc5d (MGI:1353611) -chr11 121300000 124000000 11q24.1 612559 CLLS5 Leukemia, chronic lymphocytic susceptibility to, 5 100270644 associated with rs735665 {Leukemia, chronic lymphocytic susceptibility to, 5}, 612559 (2) -chr11 121452313 121633762 11q23.2-q24.2 11q24.1 602005 SORL1, LR11, SORLA Sortilin-related receptor, L(DLR class) A repeats-containing SORL1 6653 ENSG00000137642 Sorl1 (MGI:1202296) -chr11 122028328 122422870 11q24.1 11q24.1 615965 MIR100HG, AGD1 MIR100-LET7A2 cluster host gene, noncoding MIR100HG 399959 ENSG00000255248 Mir100hg (MGI:1920394) -chr11 122099756 122099843 11q24.1 11q24.1 610104 MIR125B1, MIRN125B1 Micro RNA 125B-1 MIR125B1 406911 ENSG00000207971 Mir125b-1 (MGI:2676810) -chr11 122115339 122116214 11q24.1 11q24.1 608853 BLID, BRCC@ BH3-like motif-containing cell death inducer BLID 414899 ENSG00000259571 distal to SORL1 -chr11 122146521 122146592 11q24.1 11q24.1 612142 MIRLET7A2, LET7A2, MIRNLET7A2 Micro RNA let7a2 MIRLET7A2 406882 ENSG00000198975 Mirlet7a-2 (MGI:3619049) -chr11 122152228 122152307 11q24.1 11q24.1 613186 MIR100, MIRN100 Micro RNA 100 MIR100 406892 ENSG00000207994 Mir100 (MGI:3619057) -chr11 122655721 122814472 11q24.1 11q24.1 609201 UBASH3B, STS1, KIAA1959, P70 Ubiquitin-associated and SH3 domain-containing protein B UBASH3B 84959 ENSG00000154127 Ubash3b (MGI:1920078) -chr11 122838418 122872642 11q22-q23 11q24.1 612597 CRTAM Cytotoxic and regulatory T-cell molecule CRTAM 56253 ENSG00000109943 Crtam (MGI:1859822) -chr11 122882758 122963861 11q24.1 11q24.1 617594 JHY, C11orf63 Jhy, mouse, homology of JHY 79864 ENSG00000109944 Jhy (MGI:1918239) -chr11 122977569 122981833 11q24.1 11q24.1 611074 BSX1 Brain-specific homeobox, mouse, homolog of BSX 390259 ENSG00000188909 Bsx (MGI:2669849) -chr11 123057488 123062365 11q23.3-q25 11q24.1 600816 HSPA8, HSP73 Heat-shock 70kD protein-8 (HSP73) HSPA8 3312 ENSG00000109971 Hspa8 (MGI:105384) -chr11 123069871 123195247 11q24.1 11q24.1 611693 CLMP, ASAM, ACAM, CSBS Coxsackievirus- and adenovirus receptor-like membrane protein CLMP 79827 ENSG00000166250 Congenital short bowel syndrome, 615237 (3), Autosomal recessive Clmp (MGI:1918816) -chr11 123629186 123654623 11q23.3 11q24.1 608214 SCN3B, SCNB3, BRGDA7, ATFB16 Sodium voltage-gated channel, beta subunit 3 SCN3B 55800 ENSG00000166257 Atrial fibrillation, familial, 16, 613120 (3), Autosomal dominant; Brugada syndrome 7, 613120 (3), Autosomal dominant Scn3b (MGI:1918882) -chr11 123723913 123741674 11q23.3 11q24.1 603430 ZNF202 Zinc finger protein-202 ZNF202 7753 ENSG00000166261 Zfp202 (MGI:1933401) -chr11 124000000 127900000 11q24.2 612581 MRD4 Mental retardation, autosomal dominant 4 112441440 translocation t(11;16)(q24.2;q24) Mental retardation, autosomal dominant 4, 612581 (2), Autosomal dominant -chr11 124115422 124147720 11q23 11q24.2 602929 VWA5A, LOH11CR2A, BCSC1 von Willebrand factor A domain-containing protein 5A VWA5A 4013 ENSG00000110002 AW551984,Vwa5a (MGI:2143322,MGI:1915026) -chr11 124611427 124620355 11q24.2 11q24.2 608422 PANX3, PX3 Pannexin 3 PANX3 116337 ENSG00000154143 Panx3 (MGI:1918881) -chr11 124622845 124635925 11q24.2 11q24.2 610614 TBRG1, NIAM Transforming growth factor-beta regulator 1 TBRG1 84897 ENSG00000154144 Tbrg1 (MGI:1100877) -chr11 124633112 124676302 11q24 11q24.2 610079 SIAE, AIS6 Sialic acid acetylesterase SIAE 54414 ENSG00000110013 {Autoimmune disease, susceptibility to, 6}, 613551 (3) Siae (MGI:104803) -chr11 124739941 124747209 11q24 11q24.2 602350 NRGN Neurogranin NRGN 4900 ENSG00000154146 Nrgn (MGI:1927184) -chr11 124747473 124752254 11q24 11q24.2 606011 VSIG2, CTXL V-set and immunoglobulin domains-containing protein 2 VSIG2 23584 ENSG00000019102 Vsig2 (MGI:1928009) -chr11 124753125 124762289 11q24.2 11q24.2 614281 ESAM Endothelial cell adhesion molecule ESAM 90952 ENSG00000149564 Esam (MGI:1916774) -chr11 124865431 124881470 11q23-q25 11q24.2 608630 ROBO3, RBIG1, RIG1, HGPPS1 Roundabout guidance receptor 3 ROBO3 64221 ENSG00000154134 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3), Autosomal recessive Robo3 (MGI:1343102) -chr11 124883690 124897864 11q24.2 11q24.2 607528 ROBO4, AOVD3 Roundabout guidance receptor 4 ROBO4 54538 ENSG00000154133 Aortic valve disease 3, 618496 (3), Autosomal dominant Robo4 (MGI:1921394) -chr11 124919204 124936411 11q24 11q24.2 611642 HEPACAM, MLC2A, MLC2B Hepatocyte cell adhesion molecule HEPACAM 220296 ENSG00000165478 Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3), Autosomal recessive; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3), Autosomal dominant Hepacam (MGI:1920177) -chr11 124919274 124920559 11q24.2 11q24.2 611641 HEPN1 Cancer susceptibility gene HEPN1 HEPN1 641654 ENSG00000221932 -chr11 125063066 125090515 11q24.2 11q24.2 619136 SLC37A2, SPX2 Solute carrier family 37 (glucose-6-phosphate transporter), member A2 SLC37A2 219855 ENSG00000134955 Slc37a2 (MGI:1929693) -chr11 125094388 125111758 11q24.2 11q24.2 619285 TMEM218 Transmembrane protein 218 TMEM218 219854 ENSG00000150433 Tmem218 (MGI:1913529) -chr11 125164750 125433388 11q24-q25 11q24.2 613066 PKNOX2, PREP2 PBX/Knotted 1 homeobox 2 PKNOX2 63876 ENSG00000165495 Pknox2 (MGI:2445415) -chr11 125442880 125496264 11q24.2 11q24.2 604825 FEZ1 Fasciculation and elongation protein zeta 1 FEZ1 9638 ENSG00000149557 Fez1 (MGI:2670976) -chr11 125569215 125584683 11q23 11q24.2 605170 EI24, PIG8, EPG4 Etoposide-induced 1.4 mRNA EI24 9538 ENSG00000149547 Ei24 (MGI:108090) -chr11 125592846 125623090 11q23.3 11q24.2 601134 STT3A, ITM1, TMC STT3A, subunit of the oligosaccharyltransferase complex (catalytic) STT3A 3703 ENSG00000134910 Congenital disorder of glycosylation, type Iw, 615596 (3), Autosomal recessive Stt3a (MGI:105124) -chr11 125624909 125676254 11q22-q23 11q24.2 603078 CHEK1, CHK1 Checkpoint kinase 1 CHEK1 1111 ENSG00000149554 Chek1 (MGI:1202065) -chr11 125671521 125680846 11p12-q13 11q24.2 102525 ACRV1 Acrosomal vesicle protein-1 ACRV1 56 ENSG00000134940 Acrv1 (MGI:104590) -chr11 125746278 125749866 11q24 11q24.2 606861 PATE Prostate- and testis-expressed gene PATE1 160065 ENSG00000171053 Pate1 (MGI:4936886) -chr11 125883613 125900645 11q24.2 11q24.2 610693 HYLS1, FLJ32915 HYLS1 centriolar and ciliogenesis-associated protein HYLS1 219844 ENSG00000198331 Hydrolethalus syndrome, 236680 (3), Autosomal recessive Hyls1 (MGI:1924082) -chr11 125893484 125903218 11q24.2 11q24.2 616283 PUS3, MRT55, NEDMIGS Pseudouridylate synthase 3 PUS3 83480 ENSG00000110060 Neurodevelopmental disorder with microcephaly and gray sclerae, 617051 (3), Autosomal recessive Pus3 (MGI:1914299) -chr11 125903327 125928842 11q24 11q24.2 607663 GRTH Gonadotropin-regulated testicular RNA helicase DDX25 29118 ENSG00000109832 Ddx25 (MGI:1353582) -chr11 125956812 126063334 11q24.2 11q24.2 608707 CDON, CDO, HPE11 Cell adhesion molecule-related/downregulated by oncogenes CDON 50937 ENSG00000064309 Holoprosencephaly 11, 614226 (3), Autosomal dominant Cdon (MGI:1926387) -chr11 126202095 126211661 11q24.2 11q24.2 617488 RPUSD4 RNA pseudouridylate synthase domain-containing protein 4 RPUSD4 84881 ENSG00000165526 Rpusd4 (MGI:1919239) -chr11 126211413 126264539 11q24.2 11q24.2 616587 FAM118B Family with sequence similarity 118, member B FAM118B 79607 ENSG00000197798 Fam118b (MGI:1924483) -chr11 126255150 126268924 11q23-q24 11q24.2 182180 SRPRA, SRPR, DP SRP receptor subunit, alpha SRPRA 6734 ENSG00000182934 Srpr (MGI:1914648) -chr11 126269042 126278131 11q24.2 11q24.2 613622 FOXRED1, MC1DN19 FAD-dependent oxidoreductase domain-containing protein 1 FOXRED1 55572 ENSG00000110074 Mitochondrial complex I deficiency, nuclear type 19, 618241 (3), Autosomal recessive Foxred1 (MGI:2446262) -chr11 126283092 126294932 11q23-q24 11q24.2 606252 TIRAP, BACTS1 TIR domain-containing adaptor protein TIRAP 114609 ENSG00000150455 {Malaria, protection against}, 611162 (3); {Tuberculosis, protection against}, 607948 (3); {Bacteremia, protection against}, 614382 (3) Tirap (MGI:2152213) -chr11 126304059 126350004 11q24.2 11q24.2 610534 DCPS, HINT5, DCS1, ARS Decapping enzyme, scavenger DCPS 28960 ENSG00000110063 Al-Raqad syndrome, 616459 (3), Autosomal recessive Dcps (MGI:1916555) -chr11 126355685 126414637 11q24.2 11q24.2 104240 ST3GAL4, SIAT4C, SIAT4, CGS23, NANTA3 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ST3GAL4 6484 ENSG00000110080 St3gal4 (MGI:1316743) -chr11 126423357 127003459 11q24.2 11q24.2 607761 KIRREL3, NEPH2, KIAA1867, KIRRE Kirre-like nephrin family adhesion molecule 3 KIRREL3 84623 ENSG00000149571 Kirrel3 (MGI:1914953) -chr11 127900000 135086622 11q24-q25 612161 ANIB7 Aneurysm, intracranial berry, 7 100188885 between rs618176 and rs1940033 Aneurysm, intracranial berry, 7, 612161 (2) -chr11 127900000 130900000 11q24 609670 MGR9 Migraine with aura, susceptibility to, 9 100415943 max lod at GATA64D03 {Migraine with aura, susceptibility to, 9}, 609670 (2) -chr11 127900000 130900000 11q24 609469 NEDE Nephropathy, progressive, with deafness 619410 max lod at D11S4464 Nephropathy, progressive, with deafness, 609469 (2) -chr11 128458764 128587592 11q23.3 11q24.3 164720 ETS1 ETS protooncogene 1, transcription factor ETS1 2113 ENSG00000134954 shown by HSR; 19cM distal to THY1; Ewing sarcoma breakpoint region-2 splices to EWSR1 Ets1 (MGI:95455) -chr11 128685262 128813266 11q24 11q24.3 193067 FLI1, BDPLT21 FLI1 protooncogene, ETS transcription factor FLI1 2313 ENSG00000151702 fused with EWS in Ewing sarcoma Bleeding disorder, platelet-type, 21, 617443 (3), Autosomal dominant, Autosomal recessive Fli1 (MGI:95554) -chr11 128691671 128696022 11q24.1 11q24.3 615815 SENCR, lncRNA9 Smooth muscle- and endothelial cell-enriched migration/differentiation-associated long noncoding RNA SENCR 100507392 ENSG00000254703 -chr11 128838019 128867295 11q24 11q24.3 600359 KCNJ1, ROMK1 Potassium inwardly-rectifying channel, subfamily J, member 1 KCNJ1 3758 ENSG00000151704 Bartter syndrome, type 2, 241200 (3), Autosomal recessive Kcnj1 (MGI:1927248) -chr11 128891355 128921162 11q24 11q24.3 600734 KCNJ5, GIRK4, KATP1, LQT13 Potassium inwardly-rectifying channel, subfamily J, member 5 KCNJ5 3762 ENSG00000120457 Long QT syndrome 13, 613485 (3), Autosomal dominant; Hyperaldosteronism, familial, type III, 613677 (3), Autosomal dominant Kcnj5 (MGI:104755) -chr11 128934730 128944232 11q24 11q24.3 605426 TP53AIP1, P53AIP1 Tumor protein p53-regulated apoptosis-inducing protein 1 TP53AIP1 63970 ENSG00000120471 -chr11 128965059 129279517 11q24.3 11q24.3 608541 ARHGAP32, RICS, GRIT, p200RHOGAP, p250GAP Rho GTPase activating protein 32 ARHGAP32 9743 ENSG00000134909 Arhgap32 (MGI:2450166) -chr11 129375236 129452278 11q25 11q24.3 604823 BARX2 BARX homeobox 2 BARX2 8538 ENSG00000043039 Barx2 (MGI:109617) -chr11 129863635 129895595 11q24-q25 11q24.3 164013 NFRKB Nuclear factor related to kappa B-binding protein NFRKB 4798 ENSG00000170322 most telomeric 11q marker Nfrkb (MGI:2442410) -chr11 129899710 130003096 11q24.3 11q24.3 618319 PRDM10, TRIS, KIAA1231 PR domain-containing protein 10 PRDM10 56980 ENSG00000170325 Prdm10 (MGI:2682952) -chr11 130069893 130144804 11q24 11q24.3 104776 APLP2 Amyloid beta (A4) precursor-like protein-2 APLP2 334 ENSG00000084234 Aplp2 (MGI:88047) -chr11 130159781 130210361 11q24-q25 11q24.3 606797 ST14, MTSP1, ARCI11 Suppression of tumorigenicity 14 ST14 6768 ENSG00000149418 Ichthyosis, congenital, autosomal recessive 11, 602400 (3), Autosomal recessive St14 (MGI:1338881) -chr11 130404922 130428608 11q25 11q24.3 605175 ADAMTS8, METH2 ADAM metallopeptidase domain with thrombospondin type 1 motif, 8 ADAMTS8 11095 ENSG00000134917 Adamts8 (MGI:1353468) -chr11 130448644 130478214 11q24.3 11q24.3 607509 ADAMTS15 ADAM metallopeptidase domain with thrombospondin type 1 motif, 15 ADAMTS15 170689 ENSG00000166106 Adamts15 (MGI:2449569) -chr11 130900000 135086622 11q25-qter 604060 DFNB20 Deafness, autosomal recessive 20 1713 Deafness, autosomal recessive 20, 604060 (2), Autosomal recessive -chr11 131370614 132336821 11q25 11q25 607938 NTM, HNT Neurotrimin NTM 50863 ENSG00000182667 Ntm (MGI:2446259) -chr11 132403360 133532533 11q25 11q25 600632 OPCML Opioid-binding protein/cell adhesion molecule-like OPCML 4978 ENSG00000183715 Ovarian cancer, somatic, 167000 (3) Opcml (MGI:97397) -chr11 133835929 133845532 11q25 11q25 609805 SPATA19 Spermatogenesis-associated protein 19 SPATA19 219938 ENSG00000166118 Spata19 (MGI:1922719) -chr11 133896437 133956967 11q25 11q25 613773 IGSF9B, KIAA1030 Immunoglobulin superfamily, member 9B IGSF9B 22997 ENSG00000080854 Igsf9b (MGI:2685354) -chr11 134069071 134152000 11q25 11q25 606871 JAM3 Junctional adhesion molecule 3 JAM3 83700 ENSG00000166086 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3), Autosomal recessive Jam3 (MGI:1933825) -chr11 134150112 134225460 11q25 11q25 609276 NCAPD3, CAPD3, KIAA0056, MCPH22 Non-SMC condensin II complex subunit D3 NCAPD3 23310 ENSG00000151503 Microcephaly 22, primary, autosomal recessive, 617984 (3), Autosomal recessive Ncapd3 (MGI:2142989) -chr11 134224663 134247787 11q25 11q25 610027 VPS26B VPS26 retromer complex component B VPS26B 112936 ENSG00000151502 Vps26b (MGI:1917656) -chr11 134248281 134253351 11q25 11q25 613739 THYN1, HSPC144, THY28 Thymocyte nuclear protein 1 THYN1 29087 ENSG00000151500 Thyn1 (MGI:1925112) -chr11 134253537 134265857 11q25 11q25 604773 ACAD8 Acyl-CoA dehydrogenase family, member 8 ACAD8 27034 ENSG00000151498 Isobutyryl-CoA dehydrogenase deficiency, 611283 (3), Autosomal recessive Acad8 (MGI:1914198) -chr11 134378503 134412241 11q25 11q25 151290 B3GAT1, GLCATP, CD57, HNK1 Beta-1,3-glucuronyltransferase 1 B3GAT1 27087 ENSG00000109956 B3gat1 (MGI:1924148) -chr11 0 135086622 Chr.11 606049 AOCH Acromegaloid features, overgrowth, cleft palate, and hernia 93956 pericentric inversion (46,XY,inv(11)(p15.3;q23.3)) Acromegaloid features, overgrowth, cleft palate, and hernia, 606049 (2) -chr12 0 35500000 12p 601803 PKS Pallister-Killian syndrome Pallister-Killian syndrome, 601803 (4), Somatic mosaicism -chr12 66766 178454 12p13.33 12p13.33 612118 IQSEC3, KIAA1110 IQ motif- and SEC7 domain-containing protein 3 IQSEC3 440073 ENSG00000120645 Iqsec3 (MGI:2677208) -chr12 190080 214156 12p13 12p13.33 603080 SLC6A12 Solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 SLC6A12 6539 ENSG00000111181 Slc6a12 (MGI:95628) -chr12 220621 262929 12p13.3 12p13.33 615097 SLC6A13, GAT2, GAT3 Solute carrier family 6 (neurotransmitter transporter, GABA), member 13 SLC6A13 6540 ENSG00000010379 Slc6a13 (MGI:95629) -chr12 280056 389319 12p11 12p13.33 180202 KDM5A, JARID1A, RBP2, RBBP2 Lysine demethylase 5A KDM5A 5927 ENSG00000073614 Kdm5a (MGI:2136980) -chr12 459938 563508 12p13.3 12p13.33 612220 B4GALNT3 Beta-1,4-N-acetylgalactosaminyltransferase 3 B4GALNT3 283358 ENSG00000139044 B4galnt3 (MGI:3041155) -chr12 564295 663444 12p13 12p13.33 607297 NINJ2 Nerve injury-induced protein 2 NINJ2 4815 ENSG00000171840 Ninj2 (MGI:1352751) -chr12 752578 911451 12p13 12p13.33 605232 WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2 WNK lysine deficient protein kinase 1 WNK1 65125 ENSG00000060237 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3), Autosomal recessive; Pseudohypoaldosteronism, type IIC, 614492 (3), Autosomal dominant Wnk1 (MGI:2442092) -chr12 911027 991194 12p13-p12.2 12p13.33 600392 RAD52 RAD52 homolog, DNA repair protein RAD52 5893 ENSG00000002016 Rad52 (MGI:101949) -chr12 990029 1495932 12p13.33 12p13.33 607127 ERC1, RAB6IP2, KIAA1081 ELKS/RAB6-interacting/CAST family, member 1 ERC1 23085 ENSG00000082805 Erc1 (MGI:2151013) -chr12 1529855 1647212 12p13.3 12p13.33 606361 WNT5B Wingless-type MMTV integration site family, member 5B WNT5B 81029 ENSG00000111186 Wnt5b (MGI:98959) -chr12 1559640 1594580 12p13.33 12p13.33 609081 FBXL14, FBL14 F-box and leucine-rich repeat protein 14 FBXL14 144699 ENSG00000171823 Fbxl14 (MGI:2141676) -chr12 1691058 1788673 12p13.31 12p13.33 607946 ADIPOR2, FLJ21432 Adiponectin receptor 2 ADIPOR2 79602 ENSG00000006831 Adipor2 (MGI:93830) -chr12 1791962 1922605 12p13.3 12p13.33 608171 CACNA2D4, RCD4 Calcium channel, voltage-dependent, alpha-2/delta subunit 4 CACNA2D4 93589 ENSG00000151062 Retinal cone dystrophy 4, 610478 (3), Autosomal recessive Cacna2d4 (MGI:2442632) -chr12 1941590 2004456 12p13.33 12p13.33 609843 DCP1B, DCP1 Decapping enzyme 1, S. cerevisiae, homolog of DCP1B 196513 ENSG00000151065 Dcp1b (MGI:2442404) -chr12 1969551 2697949 12p13.3 12p13.33 114205 CACNA1C, CACNL1A1, CCHL1A1, TS. LQT8 Calcium channel, voltage-dependent, L type, alpha 1C subunit CACNA1C 775 ENSG00000151067 Timothy syndrome, 601005 (3), Autosomal dominant; Long QT syndrome 8, 618447 (3); Brugada syndrome 3, 611875 (3) Cacna1c (MGI:103013) -chr12 2794969 2805422 12p13.33 12p13.33 600611 FKBP4, FKBP52 FK506-binding protein 4 FKBP4 2288 ENSG00000004478 Fkbp4 (MGI:95543) -chr12 2812643 2859906 12p13.33 12p13.33 617421 ITFG2, FGGAP1 Integrin-alpha FG-GAP repeat-containing protein 2 ITFG2 55846 ENSG00000111203 Itfg2 (MGI:1915450) -chr12 2857679 2877173 12p13 12p13.33 602341 FOXM1, FKHL16, HFH11 Forkhead box M1 FOXM1 2305 ENSG00000111206 Foxm1 (MGI:1347487) -chr12 2876264 2889523 12p13.33 12p13.33 614085 RHNO1, RHINO, C12orf32 Rad9-, Rad1-, and Hus1-interacting nuclear orphan 1 RHNO1 83695 ENSG00000171792 Rhno1 (MGI:1915315) -chr12 2890890 2941137 12p13 12p13.33 604730 TULP3 TUB-like protein 3 TULP3 7289 ENSG00000078246 Tulp3 (MGI:1329045) -chr12 2959396 3040675 12p13.3-p13.2 12p13.33 601714 TEAD4, TCF13L1, RTEF1 TEA domain family, member 4 TEAD4 7004 ENSG00000197905 Tead4 (MGI:106907) -chr12 3077376 3286560 12p13.32 12p13.33-p13.32 613137 TSPAN9, NET5 Tetraspanin 9 TSPAN9 10867 ENSG00000011105 Tspan9 (MGI:1924558) -chr12 3381348 3593972 12p13.3 12p13.32 610086 PRMT8, HRMT1L3, HRMT1L4 Protein arginine methyltransferase 8 PRMT8 56341 ENSG00000111218 Prmt8 (MGI:3043083) -chr12 3613365 3753217 12p13.32 12p13.32 614178 EFCAB4B, CRACR2A EF-hand calcium-binding domain-containing protein 4B CRACR2A 84766 ENSG00000130038 Cracr2a (MGI:2685919) -chr12 3808860 3873470 12p13.3 12p13.32 616706 PARP11, ARTD11 Poly(ADP-ribose) polymerase family, member 11 PARP11 57097 ENSG00000111224 Parp11 (MGI:2141505) -chr12 4273761 4305352 12p13 12p13.32 123833 CCND2, MPPH3 Cyclin D2 CCND2 894 ENSG00000118971 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3), Autosomal dominant Ccnd2 (MGI:88314) -chr12 4321212 4360027 12p13.3 12p13.32 610775 TIGAR, C12orf5 TP53-induced glycolysis and apoptosis regulator TIGAR 57103 ENSG00000078237 Tigar (MGI:2442752) -chr12 4368226 4379711 12p13.3 12p13.32 605380 FGF23, ADHR, HPDR2, PHPTC, HFTC2 Fibroblast growth factor 23 FGF23 8074 ENSG00000118972 Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3), Autosomal recessive; Hypophosphatemic rickets, autosomal dominant, 193100 (3), Autosomal dominant Fgf23 (MGI:1891427) -chr12 4434141 4445814 12p13 12p13.32 134921 FGF6 Fibroblast growth factor-6 FGF6 2251 ENSG00000111241 Fgf6 (MGI:95520) -chr12 4487734 4538507 12p13.3 12p13.32 616082 C12orf4 Chromosome 12 open reading frame 4 C12orf4 57102 ENSG00000047621 Mental retardation, autosomal recessive 66, 618221 (3), Autosomal recessive D6Wsu163e (MGI:107893) -chr12 4538889 4560046 12p13.2-p13.1 12p13.32 603070 RAD51AP1, PIR51 Rad51-associated protein 1 RAD51AP1 10635 ENSG00000111247 Rad51ap1 (MGI:1098224) -chr12 4562207 4613874 12p13.32 12p13.32 609181 DYRK4 Dual-specificity tyrosine phosphorylation-regulated kinase 4 DYRK4 8798 ENSG00000010219 Dyrk4 (MGI:1330292) -chr12 4615517 4649050 12p13.32 12p13.32 604689 AKAP3, AKAP110, FSP95, SOB1 A-kinase anchor protein 3 AKAP3 10566 ENSG00000111254 Akap3 (MGI:1341149) -chr12 4649113 4694316 12p 12p13.32 603834 NDUFA9, MC1DN26 NADH-ubiquinone oxidoreductase subunit A9 NDUFA9 4704 ENSG00000139180 Mitochondrial complex I deficiency, nuclear type 26, 618247 (3), Autosomal recessive Ndufa9 (MGI:1913358) -chr12 4720399 4772725 12p13.3 12p13.32 606250 GALNT8 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 GALNT8 26290 ENSG00000130035 -chr12 4806876 4851926 12p13 12p13.32 176257 KCNA6 Potassium voltage-gated channel, shaker-related subfamily, member 6 KCNA6 3742 ENSG00000151079 Kcna6 (MGI:96663) -chr12 4909904 4918255 12p13 12p13.32 176260 KCNA1, AEMK, EA1 Potassium voltage-gated channel, shaker-related subfamily, member 1 KCNA1 3736 ENSG00000111262 close to VWF Episodic ataxia/myokymia syndrome, 160120 (3), Autosomal dominant Kcna1 (MGI:96654) -chr12 5043878 5046787 12p13 12p13.32 176267 KCNA5, ATFB7 Potassium voltage-gated channel, shaker-related subfamily, member 5 KCNA5 3741 ENSG00000130037 Atrial fibrillation, familial, 7, 612240 (3), Autosomal dominant Kcna5 (MGI:96662) -chr12 5300000 10000000 12p13.3 612372 MAFD9 Major affective disorder 9 100196917 associated with rs1006737 {Major affective disorder-9, susceptibility to}, 612372 (2) -chr12 5432107 5495298 12p13 12p13.31 162660 NTF3 Neurotrophin-3 NTF3 4908 ENSG00000185652 Ntf3 (MGI:97380) -chr12 5560240 5948789 12p13 12p13.31 610109 ANO2, TMEM16B, C12orf3 Anoctamin 2 ANO2 57101 ENSG00000047617 Ano2 (MGI:2387214) -chr12 5948876 6124669 12p13.3 12p13.31 613160 VWF, F8VWF Coagulation factor VIII VWF (von Willebrand factor) VWF 7450 ENSG00000110799 pseudogene on chr. 22 von Willebrand disease, type 1, 193400 (3), Autosomal dominant; von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3), Autosomal dominant, Autosomal recessive; von Willebrand disease, type 3, 277480 (3), Autosomal recessive Vwf (MGI:98941) -chr12 6199945 6238265 12p13 12p13.31 143030 CD9, MIC3 CD9 antigen (p24) CD9 928 ENSG00000010278 Cd9 (MGI:88348) -chr12 6310331 6328505 12p13.31 12p13.31 611743 PLEKHG6, MYOGEF Pleckstrin homology domain- and RhoGEF domain-containing protein G6 PLEKHG6 55200 ENSG00000008323 Plekhg6 (MGI:2682298) -chr12 6328770 6342075 12p13.2 12p13.31 191190 TNFRSF1A, TNFR1, TNFAR, FPF, MS5 Tumor necrosis factor receptor superfamily, member 1A TNFRSF1A 7132 ENSG00000067182 {Multiple sclerosis, susceptibility to, 5}, 614810 (3); Periodic fever, familial, 142680 (3), Autosomal dominant Tnfrsf1a (MGI:1314884) -chr12 6346846 6377358 12p13 12p13.31 600228 SCNN1A, BESC2, LIDLS3 Sodium channel, epithelial 1, subunit alpha SCNN1A 6337 ENSG00000111319 mutation identified in 1 LIDLS3 patient Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive; ?Liddle syndrome 3, 618126 (3), Autosomal dominant; Bronchiectasis with or without elevated sweat chloride 2, 613021 (3), Autosomal dominant Scnn1a (MGI:101782) -chr12 6375159 6391570 12p13 12p13.31 600979 LTBR, TNFCR Lymphotoxin-beta receptor (tumor necrosis factor C receptor) LTBR 4055 ENSG00000111321 tightly linked to TNFR1 in mouse Ltbr (MGI:104875) -chr12 6444866 6451717 12p13 12p13.31 186711 CD27, TNFRSF7, S152. LPFS2 CD27 antigen CD27 939 ENSG00000139193 Lymphoproliferative syndrome 2, 615122 (3), Autosomal recessive Cd27 (MGI:88326) -chr12 6451655 6472005 12p13.3 12p13.31 607081 TAPBPR TAP-binding protein-related protein TAPBPL 55080 ENSG00000139192 Tapbpl (MGI:2384853) -chr12 6462236 6470676 12p13.31 12p13.31 185880 VAMP1, SYB1, SPAX1, CMS25 Vesicle-associated membrane protein-1 (synaptobrevin-1) VAMP1 6843 ENSG00000139190 Myasthenic syndrome, congenital, 25, 618323 (3), Autosomal recessive; Spastic ataxia 1, autosomal dominant, 108600 (3), Autosomal dominant Vamp1 (MGI:1313276) -chr12 6491885 6493261 12p13.3-p13.1 12p13.31 611855 MRPL51, MRP64 Mitochondrial ribosomal protein L51 MRPL51 51258 ENSG00000111639 Mrpl51 (MGI:1913743) -chr12 6494101 6531954 12p13.31 12p13.31 615638 NCAPD2, CNAP1, KIAA0159, MCPH21 Non-SMC condensin I complex subunit D2 NCAPD2 9918 ENSG00000010292 mutation identified in 1 MCPH21 patient ?Microcephaly 21, primary, autosomal recessive, 617983 (3), Autosomal recessive Ncapd2 (MGI:1915548) -chr12 6510221 6510550 12p13.31 12p13.31 615639 SCARNA10 Small cajal body-specific RNA 10 SCARNA10 692148 ENSG00000239002 in intron 4 of NCAPD2 -chr12 6534516 6538370 12p13.31-p13.1 12p13.31 138400 GAPDH, GAPD Glyceraldehyde-3-phosphate dehydrogenase GAPDH 2597 ENSG00000111640 pseudogene on Xp21-q11 Gapdh,Gapdh-ps15 (MGI:5434255,MGI:95640) -chr12 6538960 6556096 12p13.31 12p13.31 610495 IFFO1 Intermediate filament family orphan 1 IFFO1 25900 ENSG00000010295 Iffo1 (MGI:2444516) -chr12 6556870 6568290 12p13 12p13.31 164031 NOP2, NOL1 Nucleolar protein NOP2 NOP2 4839 ENSG00000111641 Nop2 (MGI:107891) -chr12 6570081 6607378 12p13 12p13.31 603277 CHD4, SIHIWES Chromodomain helicase DNA-binding protein-4 CHD4 1108 ENSG00000111642 Sifrim-Hitz-Weiss syndrome, 617159 (3), Autosomal dominant Chd4 (MGI:1344380) -chr12 6618834 6635958 12p13 12p13.31 606926 LPAR5, GPR92, GPR93, LPA5 Lysophosphatidic acid receptor 5 LPAR5 57121 ENSG00000184574 Lpar5 (MGI:2685918) -chr12 6650300 6663142 12p13.31 12p13.31 608524 ING4 Inhibitor of growth-4 ING4 51147 ENSG00000111653 Ing4 (MGI:107307) -chr12 6666476 6689571 12p12 12p13.31 609951 ZNF384, CIZ, CAGH1, NMP4 Zinc finger protein 384 ZNF384 171017 ENSG00000126746 Zfp384 (MGI:2443203) -chr12 6689704 6700814 12p13.31 12p13.31 616065 PIANP, PANP, LEDA1 PILR-alpha-associated neural protein PIANP 196500 ENSG00000139200 Pianp (MGI:2441908) -chr12 6724045 6731867 12p13.31 12p13.31 616009 COPS7A, CSN7 COP9 signalosome, subunit 7A COPS7A 50813 ENSG00000111652 Cops7a (MGI:1349400) -chr12 6747995 6753140 12p13 12p13.31 601401 MLF2 Myeloid leukemia factor-2 MLF2 8079 ENSG00000089693 Mlf2 (MGI:1353554) -chr12 6766362 6770951 12p13.31 12p13.31 168440 PTMS Parathymosin PTMS 5763 ENSG00000159335 previously assigned to 17q12-q22 Ptms (MGI:1916452) -chr12 6772482 6778454 12p13.32 12p13.31 153337 LAG3 Lymphocyte activation gene-3 LAG3 3902 ENSG00000089692 Lag3 (MGI:106588) -chr12 6789527 6820798 12p13.31 12p13.31 186940 CD4, OKT4D, IMD79 CD4 antigen (p55) CD4 920 ENSG00000010610 CD = \'cluster of differentiation\' = nomenclature of leukocyte differentiation antigens Immunodeficiency 79, 619238 (3), Autosomal recessive; OKT4 epitope deficiency, 613949 (3) Cd4 (MGI:88335) -chr12 6828406 6839846 12p13 12p13.31 610342 P3H3, LEPREL2 Prolyl 3-hydroxylase 3 P3H3 10536 ENSG00000110811 P3h3 (MGI:1315208) -chr12 6840921 6847392 12p13 12p13.31 139130 GNB3, CSNB1H Guanine nucleotide-binding protein, beta polypeptide-3 GNB3 2784 ENSG00000111664 Night blindness, congenital stationary, type 1H, 617024 (3), Autosomal recessive; {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial Gnb3 (MGI:95785) -chr12 6844794 6852078 12p13.31 12p13.31 607749 CDCA3, TOME1 Cell division cycle-associated protein 3 CDCA3 83461 ENSG00000111665 Cdca3 (MGI:1315198) -chr12 6852149 6866631 12p13 12p13.31 601447 USP5, ISOT Ubiquitin-specific protease-5 (ubiquitin isopeptidase T) USP5 8078 ENSG00000111667 Usp5 (MGI:1347343) -chr12 6866833 6870947 12p13 12p13.31 190450 TPI1, TPID Triosephosphate isomerase-1 TPI1 7167 ENSG00000111669 Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3), Autosomal recessive Tpi1 (MGI:98797) -chr12 6870934 6873302 12p13.31 12p13.31 611658 SPSB2, SSB2 SPRY domain- and SOCS box-containing 2 SPSB2 84727 ENSG00000111671 Spsb2 (MGI:1315199) -chr12 6914579 6923696 12p13 12p13.31 131360 ENO2 Enolase-2, gamma, neuronal ENO2 2026 ENSG00000111674 Eno2 (MGI:95394) -chr12 6924458 6942320 12p13.31 12p13.31 607462 ATN1, DRPLA, HRS, NOD, CHEDDA Atrophin 1 ATN1 1822 ENSG00000111676 Dentatorubral-pallidoluysian atrophy, 125370 (3), Autosomal dominant; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 (3), Autosomal dominant Atn1 (MGI:104725) -chr12 6943432 6946002 12p13 12p13.31 615140 C12orf57, C10, TEMTYS Chromosome 12 open reading frame 57 C12orf57 113246 ENSG00000111678 Temtamy syndrome, 218340 (3), Autosomal recessive Grcc10 (MGI:1315201) -chr12 6943815 6943877 12p13.31 12p13.31 617876 RNU7-1, RNU7, AGS9 RNA, U7 small nuclear, 1 RNU7-1 100147744 ENSG00000238923 Aicardi-Goutieres syndrome 9, 619487 (3) -chr12 6946576 6961315 12p13 12p13.31 176883 PTPN6 Protein tyrosine phosphatase, nonreceptor-type, 6 PTPN6 5777 ENSG00000111679 Ptpn6 (MGI:96055) -chr12 6963698 6963765 12p13.31 12p13.31 612092 MIR200C, MIRN200C Micro RNA 200C MIR200C 406985 ENSG00000207713 Mir200c (MGI:3618750) -chr12 6964096 6964190 12p13.31 12p13.31 612093 MIR141, MIRN141 Micro RNA 141 MIR141 406933 ENSG00000207708 Mir141 (MGI:2676826) -chr12 6965326 6970752 12p13 12p13.31 610704 PHB2, REA Prohibitin 2 PHB2 11331 ENSG00000215021 Phb2 (MGI:102520) -chr12 6967336 6967605 12p13.31 12p13.31 615642 SCARNA12 Small Cajal body-specific RNA 12 SCARNA12 677777 ENSG00000238795 -chr12 6970912 6997427 12p13 12p13.31 611531 EMG1, NEP1, C2F, BWCNS EMG1 N1-specific pseudouridine methyltransferase EMG1 10436 ENSG00000126749 Bowen-Conradi syndrome, 211180 (3), Autosomal recessive Emg1 (MGI:1315195) -chr12 6976184 7018507 12p13.31 12p13.31 611950 LPCAT3, MBOAT5, NESSY Lysophosphatidylcholine acyltransferase 3 LPCAT3 10162 ENSG00000111684 Lpcat3 (MGI:1315211) -chr12 7060717 7071031 12p13 12p13.31 120580 C1S, EDSPD2 Complement component-1, s subcomponent C1S 716 ENSG00000182326 C1s deficiency, 613783 (3); Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3), Autosomal dominant C1s2,C1s1 (MGI:1355312,MGI:3644269) -chr12 7080218 7092444 12p13 12p13.31 613785 C1R, EDSPD1 Complement component-1, r subcomponent C1R 715 ENSG00000159403 Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3), Autosomal dominant C1rb,C1ra (MGI:3779804,MGI:1355313) -chr12 7094553 7109213 12p13.31 12p13.31 608974 C1RL, CLSPA, C1RLP Complement component C1r-like protein C1RL 51279 ENSG00000139178 C1rl (MGI:2660692) -chr12 7119105 7130271 12p13.31 12p13.31 611866 RBP5, CRBP3 Retinol-binding protein 5 RBP5 83758 ENSG00000139194 -chr12 7130370 7158944 12p13 12p13.31 611324 CLSTN3, KIAA0726 Calsyntenin 3 CLSTN3 9746 ENSG00000139182 Clstn3 (MGI:2178323) -chr12 7188652 7218573 12p13.3 12p13.31 600414 PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5 Peroxisome biogenesis factor 5 PEX5 5830 ENSG00000139197 Peroxisome biogenesis disorder 2B, 202370 (3), Autosomal recessive; Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 5, 616716 (3), Autosomal recessive Pex5 (MGI:1098808) -chr12 7304071 7328718 12p13.31 12p13.31 614360 ACSM4 Acyl-CoA synthetase medium-chain family, member 4 ACSM4 341392 ENSG00000215009 Acsm4 (MGI:2681844) -chr12 7320509 7444152 12p13.3 12p13.31 606079 CD164L1, CD163B, M160 CD164 antigen-like 1 CD163L1 283316 ENSG00000177675 -chr12 7470810 7503807 12p13.3 12p13.31 605545 CD163 CD163 antigen (hemoglobin scavenger receptor) CD163 9332 ENSG00000177575 Cd163 (MGI:2135946) -chr12 7649399 7670598 12p13.1 12p13.31 600130 APOBEC1, BEDP Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 APOBEC1 339 ENSG00000111701 Apobec1 (MGI:103298) -chr12 7689783 7695774 12p13.1 12p13.31 606522 GDF3, KFS3, MCOPCB6, MCOP7 Growth differentiation factor 3 GDF3 9573 ENSG00000184344 Klippel-Feil syndrome 3, autosomal dominant, 613702 (3); Microphthalmia with coloboma 6, 613703 (3), Autosomal dominant; Microphthalmia, isolated 7, 613704 (3), Autosomal dominant Gdf3 (MGI:95686) -chr12 7711432 7717558 12p13.31 12p13.31 608408 DPPA3 Developmental pluripotency-associated gene 3 DPPA3 359787 ENSG00000187569 Dppa3 (MGI:1920958) -chr12 7729244 7751599 12p13.2-p12.3 12p13.31 606677 CLEC4C, CLECSF11, DLEC, BDCA2 C-type lectin domain family 4, member C CLEC4C 170482 ENSG00000198178 Clec4b1 (MGI:1917060) -chr12 7789401 7799145 12p13.31 12p13.31 607937 NANOG NANOG homeobox NANOG 79923 ENSG00000111704 Nanog (MGI:1919200) -chr12 7812513 7891195 12p13.3 12p13.31 611039 SLC2A14, GLUT14 Solute carrier family 2 (facilitated glucose transporter), member 14 SLC2A14 144195 ENSG00000173262 Slc2a3 (MGI:95757) -chr12 7919229 7936186 12p13.3 12p13.31 138170 SLC2A3, GLUT3 Solute carrier family 2 (facilitated glucose transporter), member 3 SLC2A3 6515 ENSG00000059804 pseudogene SLC2A3P on 5q34 Slc2a3 (MGI:95757) -chr12 8032679 8055521 12p13.31 12p13.31 619162 FOXJ2, FHX Forkhead box J2 FOXJ2 55810 ENSG00000065970 Foxj2 (MGI:1926805) -chr12 8056843 8066358 12p13.31 12p13.31 605246 C3AR1, C3AR Complement component 3a receptor 1 C3AR1 719 ENSG00000171860 C3ar1 (MGI:1097680) -chr12 8082273 8097880 12p13.31 12p13.31 611623 NECAP1, DEE21 NECAP endocytosis-associated protein 1 NECAP1 25977 ENSG00000089818 Developmental and epileptic encephalopathy 21, 615833 (3), Autosomal recessive Necap1 (MGI:1914852) -chr12 8102901 8138606 12p13 12p13.31 605306 CLEC4A, CLECSF6, DCIR, DDB27 C-type lectin domain family 4, member A CLEC4A 50856 ENSG00000111729 Clec4a1,Clec4b1,Clec4a3,Clec4a2,Clec4a4 (MGI:1917060,MGI:3036291,MGI:3624119,MGI:1349412,MGI:1920399) -chr12 8221259 8227617 12p13.31 12p13.31 613041 FAM90A1 Family with sequence similarity 90, member A1 FAM90A1 55138 ENSG00000171847 other family members on chr. 8 Fam90a1b,Fam90a1a (MGI:1921682,MGI:2142877) -chr12 8455961 8478329 12p13.31-p31.2 12p13.31 613579 CLEC6A, CLEC4N C-type lectin domain family 6, member A CLEC6A 93978 ENSG00000205846 Clec4n (MGI:1861231) -chr12 8513491 8522365 12p13 12p13.31 609964 CLEC4D, CLECSF8, CLEC6 C-type lectin domain family 4, member D CLEC4D 338339 ENSG00000166527 Clec4d (MGI:1298389) -chr12 8533304 8541326 12p13 12p13.31 609962 CLEC4E, MINCLE C-type lectin domain family 4, member E CLEC4E 26253 ENSG00000166523 Clec4e (MGI:1861232) -chr12 8602169 8612969 12p13 12p13.31 605257 AICDA, AID, HIGM2 Activation-induced cytidine deaminase AICDA 57379 ENSG00000111732 Immunodeficiency with hyper-IgM, type 2, 605258 (3), Autosomal recessive Aicda (MGI:1342279) -chr12 8645942 8662825 12p13.1-p12.3 12p13.31 601103 MFAP5, MAGP2, AAT9 Microfibril-associated protein 5 MFAP5 8076 ENSG00000197614 Aortic aneurysm, familial thoracic 9, 616166 (3), Autosomal dominant Mfap5 (MGI:1354387) -chr12 8681599 8783094 12p13.31 12p13.31 614054 RIMKLB, NAAGS Ribosomal modification protein RimK-like family, member B RIMKLB 57494 ENSG00000166532 Rimklb (MGI:1918325) -chr12 8822553 8887201 12p13.31 12p13.31 610627 A2ML1, OMS Alpha-2-macroglobulin-like 1 A2ML1 144568 ENSG00000166535 {Otitis media, susceptibility to}, 166760 (3), Autosomal dominant Mug1,Mug2 (MGI:99836,MGI:99837) -chr12 8914508 8941466 12p13.31 12p13.31 602978 PHC1, EDR1, HPH1, RAE28, MCPH11 Polyhomeotic-like 1 PHC1 1911 ENSG00000111752 mutations identified in 1 family ?Microcephaly 11, primary, autosomal recessive, 615414 (3), Autosomal recessive Phc1 (MGI:103248) -chr12 8940360 8949644 12p13 12p13.31 154540 M6PR Mannose-6-phosphate receptor, cation-dependent M6PR 4074 ENSG00000003056 M6pr (MGI:96904) -chr12 8950043 9215656 12p13.31 12p13.31 604874 KLRG1, MAFA, MAFAL Killer cell lectin-like receptor, subfamily G, member 1 KLRG1 10219 ENSG00000139187 Klrg1 (MGI:1355294) -chr12 9067707 9116228 12p13.3-p12.3 12p13.31 103950 A2M Alpha-2-macroglobulin A2M 2 ENSG00000175899 cluster of genes A2m (MGI:2449119) -chr12 9140729 9208394 12p13-p12.2 12p13.31 176420 PZP Pregnancy zone protein PZP 5858 ENSG00000126838 Mug1,Mug2 (MGI:99836,MGI:99837) -chr12 9594550 9607915 12p13-p12 12p13.31 602890 KLRB1, NKRP1A Killer cell lectin-like receptor, subfamily B, member 1 KLRB1 3820 ENSG00000111796 Klrb1b,Klrb1c,Klrb1,Klrb1a,Klrb1f (MGI:107538,MGI:107539,MGI:96877,MGI:107540,MGI:2442965) -chr12 9669712 9699552 12p13 12p13.31 605659 CLEC2D, LLT1 C-type lectin domain family 2, member D CLEC2D 29121 ENSG00000069493 Clec2h,Clec2g,Clec2i,Clec2d,Clec2f,Clec2e (MGI:2136934,MGI:3522133,MGI:2135589,MGI:1918059,MGI:2136650,MGI:3028921) -chr12 9715859 9733434 12p13.31 12p13.31 607467 CLECL1, DCAL1 C-type lectin-like 1 CLECL1 160365 ENSG00000184293 -chr12 9752485 9760900 12p13-p12 12p13.31 107273 CD69 CD69 antigen (p60, early T-cell activation antigen) CD69 969 ENSG00000110848 Cd69 (MGI:88343) -chr12 9800051 9845004 12p13.2-p12.3 12p13.31 605029 KLRF1 Killer cell lectin-like receptor, subfamily F, member 1 KLRF1 51348 ENSG00000150045 -chr12 9852368 9869353 12p13-p12 12p13.31 603242 CLEC2B, CLECSF2, AICL C-type lectin domain family 2, member B CLEC2B 9976 ENSG00000110852 -chr12 9881488 9895832 12p13.31 12p13.31 618814 KLRF2 Killer cell lectin-like receptor F2 KLRF2 100431172 ENSG00000256797 -chr12 9882732 9932429 12p13.31 12p13.31 612087 CLEC2A C-type lectin domain family 2, member A CLEC2A 387836 ENSG00000188393 -chr12 9951267 9995208 12p13 12p13.31 612088 CLEC12A, MICL C-type lectin domain family 12, member A CLEC12A 160364 ENSG00000172322 Clec12a (MGI:3040968) -chr12 9986118 10001898 12p13 12p13.3-p13.2 606783 CLEC2B, CLEC2 C-type lectin domain family 1, member B CLEC1B 51266 ENSG00000165682 Clec1b (MGI:1913287) -chr12 10000000 27600000 12p13.2-p11.23 610143 DFNB62 Deafness, autosomal recessive 62 692220 between D12S358 and D12S1042 Deafness, autosomal recessive 62, 610143 (2), Autosomal recessive -chr12 10000000 113900000 12p13.2-q24.1 601458 IBD2 Inflammatory bowel disease 2 3378 mainly ulcerative colitis {Inflammatory bowel disease 2}, 601458 (2) -chr12 10000000 12600000 12p13.2 168710 PCS Parotid proline-rich salivary protein Pc linked to PRB2 -chr12 10000000 12600000 12p13.2 613967 TAS2R45, T2R45 Taste receptor, type 2, member 45 TAS2R45 259291 Tas2r120 (MGI:2681256) -chr12 10006137 10018799 12p13.2 12p13.2 617573 CLEC12B C-type lectin domain family 12, member B CLEC12B 387837 ENSG00000256660 Clec12b (MGI:1918433) -chr12 10030681 10066030 12p13.31 12p13.2 612252 CLEC9A, DNGR1 C-type lectin domain family 9, member A CLEC9A 283420 ENSG00000197992 Clec9a (MGI:2444608) -chr12 10069503 10099064 12p13 12p13.2 606782 CLEC1A, CLEC1 C-type lectin domain family 1, member A CLEC1A 51267 ENSG00000150048 {Aspergillosis, susceptibility to}, 614079 (3) Clec1a (MGI:2444151) -chr12 10116776 10130263 12p13.2-p12.3 12p13.2 606264 CLEC7A, CLECSF12, DECTIN1, CANDF4 C-type lectin domain family 7, member A CLEC7A 64581 ENSG00000172243 in natural killer gene complex Candidiasis, familial, 4, autosomal recessive, 613108 (3), Autosomal recessive; {Aspergillosis, susceptibility to}, 614079 (3) Clec7a (MGI:1861431) -chr12 10158300 10172131 12p13-p12 12p13.2 602601 OLR1, LOX1 Low density lipoprotein, oxidized, receptor 1 OLR1 4973 ENSG00000173391 {Myocardial infarction, susceptibility to}, 608446 (3) Olr1 (MGI:1261434) -chr12 10212876 10223127 12p12.3 12p13.2 607420 GABARAPL1, GEC1 GABA-A receptor-associated protein-like protein 1 GABARAPL1 23710 ENSG00000139112 Gabarapl1 (MGI:1914980) -chr12 10238382 10329607 12p13.2-p12.3 12p13.2 602894 KLRD1, CD94 Killer cell lectin-like receptor, subfamily D, member 1 KLRD1 3824 ENSG00000134539 Klrd1 (MGI:1196275) -chr12 10372352 10390040 12p13.2-p12.3 12p13.2 611817 KLRK1, NKG2D Kill cell lectin-like receptor, subfamily K, member 1 KLRK1 22914 ENSG00000213809 Klrk1 (MGI:1196250) -chr12 10407383 10409756 12p13.2-p12.3 12p13.2 602893 KLRC4, NKG2F, D12S2489E Killer cell lectin-like receptor, subfamily C, member 4 KLRC4 8302 ENSG00000183542 Klrc3,Klrc1 (MGI:1929720,MGI:1336161) -chr12 10412314 10420594 12p13.2-p12.3 12p13.2 602892 KLRC3, NKG2E Killer cell lectin-like receptor, subfamily C, member 3 KLRC3 3823 ENSG00000205810 Klrc3 (MGI:1929720) -chr12 10430598 10436009 12p13.2-p12.3 12p13.2 602891 KLRC2, NKG2C Killer cell lectin-like receptor, subfamily C, member 2 KLRC2 3822 ENSG00000205809 Klrc3,Klrc2,Klrc1 (MGI:1929720,MGI:1336161,MGI:1336162) -chr12 10441672 10454684 12p13.2-p12.3 12p13.2 161555 KLRC1, NKG2, NKG2A Killer cell lectin-like receptor, subfamily C, member 1 KLRC1 3821 ENSG00000134545 family of at least 3 genes on 12 Klrc3,Klrc1 (MGI:1929720,MGI:1336161) -chr12 10588477 10599834 12p13-p12 12p13.2 604274 KLRA1P, KLRA1, LY49L Killer cell lectin like receptor A1, pseudogene KLRA1P 10748 ?functional -chr12 10618922 10674317 12p13.2 12p13.2 611433 STYK1, NOK Serine/threonine/tyrosine kinase 1 STYK1 55359 ENSG00000060140 Styk1 (MGI:2141396) -chr12 10699083 10723441 12p13.1 12p13.2 603437 YBX3, CSDA, DBPA Y-box binding protein 3 YBX3 8531 ENSG00000060138 Ybx3 (MGI:2137670) -chr12 10801531 10802626 12p13 12p13.2 604793 TRB4, T2R7 Taste receptor, family B, member 4 TAS2R7 50837 ENSG00000121377 Tas2r130 (MGI:2681278) -chr12 10806050 10807285 12p13 12p13.2 604794 TRB5, T2R8 Taste receptor, family B, member 5 TAS2R8 50836 ENSG00000121314 -chr12 10809093 10810167 12p13 12p13.2 604795 TRB6, T2R9 Taste receptor, family B, member 6 TAS2R9 50835 ENSG00000121381 -chr12 10825345 10826268 12p13 12p13.2 604791 TRB2, T2R10 Taste receptor, family B, member 2 TAS2R10 50839 ENSG00000121318 Tas2r106,Tas2r105,Tas2r107,Tas2r104,Tas2r114 (MGI:2681203,MGI:2681218,MGI:2681207,MGI:2681195,MGI:2681185) -chr12 10845848 10849474 Chr.12 12p13.2 605359 PROL4, LPRP Proline rich 4, lacrimal PRR4 11272 ENSG00000111215 -chr12 10880964 11171610 12p13.2 12p13.2 168730 PRH1 Proline-rich protein HaeIII, subfamily-1 PRH1 5554 ENSG00000231887 Pa, Db, PIF alleles -chr12 10907925 10909561 12p13 12p13.2 604792 TRB3, T2R13 Taste receptor, family B, member 3 TAS2R13 50838 ENSG00000212128 Tas2r121,Tas2r102,Tas2r124 (MGI:2681267,MGI:2681259,MGI:2681171) -chr12 10929235 10934844 12p13.2 12p13.2 168790 PRH2 Proline-rich protein HaeIII, subfamily-2 PRH2 5555 ENSG00000134551 Pr allele Gm8882,Prpmp5 (MGI:1927478,MGI:3645847) -chr12 10938253 10939206 12p13 12p13.2 604790 TRB1, T2R14 Taste receptor, family B, member 1 TAS2R14 50840 ENSG00000212127 Tas2r117,Tas2r116,Tas2r129,Tas2r109,Tas2r140,Tas2r110,Tas2r113,Tas2r123,Tas2r115,Tas2r103,Tas2r125 (MGI:2681298,MGI:2681276,MGI:2681264,MGI:2681242,MGI:1890257,MGI:2681223,MGI:2681214,MGI:2681269,MGI:2681216,MGI:1890258,MGI:2681217) -chr12 10985912 10986911 12p13.2 12p13.2 609627 TAS2R50, T2R50, TAS2R51, T2R51 Taste receptor, type 2, member 50 TAS2R50 259296 ENSG00000212126 Tas2r120,Tas2r136 (MGI:2681256,MGI:2681304) -chr12 10995960 10998303 12p13.2 12p13.2 613962 TAS2R20, T2R56 Taste receptor, type 2, member 20 TAS2R20 259295 ENSG00000255837 Tas2r120,Tas2r136 (MGI:2681256,MGI:2681304) -chr12 11021618 11022619 12p13 12p13.2 613961 TAS2R19, T2R19, T2R48 Taste receptor, type 2, member 19 TAS2R19 259294 ENSG00000212124 Tas2r120,Tas2r136 (MGI:2681256,MGI:2681304) -chr12 11030386 11031406 12p13.2 12p13.2 612669 TAS2R31, TAS2R44, T2R53 Taste receptor, type 2, member 31 TAS2R31 259290 ENSG00000256436 Tas2r120 (MGI:2681256) -chr12 11061364 11062293 12p13.2 12p13.2 612774 TAS2R46, T2R46, T2R54 Taste receptor, type 2, member 46 TAS2R46 259292 ENSG00000226761 Tas2r120 (MGI:2681256) -chr12 11091286 11092312 12p13.2 12p13.2 612668 TAS2R43, T2R52 Taste receptor, type 2, member 43 TAS2R43 259289 ENSG00000255374 Tas2r120,Tas2r136 (MGI:2681256,MGI:2681304) -chr12 11133284 11134243 12p13.2 12p13.2 613963 TAS2R30, T2R30, T2R47 Taste receptor, type 2, member 30 TAS2R30 259293 ENSG00000256188 previously assigned to chr.1 Tas2r120,Tas2r136 (MGI:2681256,MGI:2681304) -chr12 11185992 11186936 12p13 12p13.2 613966 TAS2R42, T2R42, T2R55 Taste receptor, type 2, member 42 TAS2R42 353164 ENSG00000186136 Tas2r131 (MGI:2681280) -chr12 11265913 11269706 12p13.2 12p13.2 168840 PRB3 Proline-rich protein BstNI, subfamily-3 (parotid salivary glycoprotein) PRB3 5544 ENSG00000197870 G1 allele Gm8882,Prb1,Prpmp5 (MGI:1927478,MGI:2681872,MGI:3645847) -chr12 11307076 11310435 12p13.2 12p13.2 180990 PRB4 Proline-rich protein BstNI, subfamily-4 PRB4 5545 ENSG00000230657 Po, CON1, CON2 alleles Gm8882,Prb1,Prpmp5 (MGI:1927478,MGI:2681872,MGI:3645847) -chr12 11351820 11355590 12p13.2 12p13.2 180989 PRB1 Proline-rich protein BstNI, subfamily-1 PRB1 5542 ENSG00000251655 Gm8882,Prpmp5 (MGI:1927478,MGI:3645847) -chr12 11391539 11395566 12p13.2 12p13.2 168810 PRB2 Proline-rich protein BstNI, subfamily-2 (parotid size variant) PRB2 653247 ENSG00000121335 Ps allele Prb1 (MGI:2681872) -chr12 11649600 11895385 12p13 12p13.2 600618 ETV6, TEL, THC5 ETS variant transcription factor 6 ETV6 2120 ENSG00000139083 fused to PDGFRB or AML1 in leukemia Thrombocytopenia 5, 616216 (3), Autosomal dominant; Leukemia, acute myeloid, somatic, 601626 (3) Etv6 (MGI:109336) -chr12 12049848 12099694 12p12 12p13.2 606126 BCL2L14, BCLG BCL2-like 14 BCL2L14 79370 ENSG00000121380 Bcl2l14 (MGI:1914063) -chr12 12116024 12267043 12p13.3-p11.2 12p13.2 603507 LRP6, ADCAD2, STHAG7 Low density lipoprotein receptor-related protein 6 LRP6 4040 ENSG00000070018 {Coronary artery disease, autosomal dominant, 2}, 610947 (3), Autosomal dominant; Tooth agenesis, selective, 7, 616724 (3), Autosomal dominant Lrp6 (MGI:1298218) -chr12 12357077 12471232 12p13.2 12p13.2 616598 BORCS5, LOH12CR1, MYRLYSIN BLOC1-related complex, subunit 5 BORCS5 118426 ENSG00000165714 Borcs5 (MGI:1915024) -chr12 12473281 12562862 12p12 12p13.2 607175 DUSP16, MKP7, KIAA1700 Dual-specificity phosphatase 16 DUSP16 80824 ENSG00000111266 Dusp16 (MGI:1917936) -chr12 12600000 14600000 12p13 601151 DDX12P, CHLR2 DEAD/H-box helicase 12, pseudogene DDX12P 440081 -chr12 12611875 12645107 12p13 12p13.1 603476 CREBL2 Cyclic AMP response element-binding protein-like 2 CREBL2 1389 ENSG00000111269 Crebl2 (MGI:1889385) -chr12 12659690 12717785 12p13.2-p12.3 12p13.1 602927 GPR19 G protein-coupled receptor-19 GPR19 2842 ENSG00000183150 Gpr19 (MGI:892973) -chr12 12717367 12722368 12p13 12p13.1 600778 CDKN1B, KIP1, CDKN4, MEN4 Cyclin-dependent kinase inhibitor 1B (p27, Kip1) CDKN1B 1027 ENSG00000111276 Multiple endocrine neoplasia, type IV, 610755 (3), Autosomal dominant Cdkn1b (MGI:104565) -chr12 12725916 12791465 12p13.2 12p13.1 612456 APOLD1, VERGE Apolipoprotein L domain-containing 1 APOLD1 81575 ENSG00000178878 Apold1 (MGI:2685921) -chr12 12813345 12829980 12p13.1 12p13.1 615428 DDX47 DEAD-box helicase 47 DDX47 51202 ENSG00000213782 Ddx47 (MGI:1915005) -chr12 12891561 12917936 12p13.1 12p13.1 604138 GPRC5A, RAI3, RAIG1 G protein-coupled receptor, family C, group 5, member A GPRC5A 9052 ENSG00000013588 Gprc5a (MGI:1891250) -chr12 12940517 12955907 12p13.3 12p13.1 607437 GPRC5D G protein-coupled receptor, family C, group 5, member D GPRC5D 55507 ENSG00000111291 Gprc5d (MGI:1935037) -chr12 12974869 13000264 Chr.12 12p13.1 605826 HEBP1, HBP Heme-binding protein 1 HEBP1 50865 ENSG00000013583 Hebp1 (MGI:1333880) -chr12 13044380 13083448 12p13.1 12p13.1 617838 FAM234B, KIAA1467 Family with sequence similarity 234, member B FAM234B 57613 ENSG00000084444 Fam234b (MGI:1921775) -chr12 13196725 13219940 12p12.3 12p13.1 602333 EMP1, TMP Epithelial membrane protein-1 EMP1 2012 ENSG00000134531 Emp1 (MGI:107941) -chr12 13537336 13982011 12p12 12p13.1 138252 GRIN2B, NMDAR2B, MRD6, DEE27 Glutamate receptor, ionotropic, N-methyl D-aspartate 2B GRIN2B 2904 ENSG00000273079 Developmental and epileptic encephalopathy 27, 616139 (3), Autosomal dominant; Intellectual developmental disorder, autosomal dominant 6, with or without seizures, 613970 (3), Autosomal dominant Grin2b (MGI:95821) -chr12 14254913 14255485 12p13.1 12p13.1 139180 GNAI2P1, GNAI2L, GNAI2A Guanine nucleotide-binding protein (G protein), alpha-inhibiting, polypeptide 2 pseudogene 1 GNAI2P1 2772 -chr12 14365639 14502934 12p13.1 12p13.1 613644 ATF7IP, AM, MCAF, MCAF1 Activating transcription factor 7-interacting protein ATF7IP 55729 ENSG00000171681 Atf7ip (MGI:1858965) -chr12 14503660 14567882 12p13.1 12p13.1 618486 PLBD1 Phospholipase B domain-containing protein 1 PLBD1 79887 ENSG00000121316 Plbd1 (MGI:1914107) -chr12 14612631 14696624 12p12 12p12.3 601330 GUCY2C, GUC2C, DIAR6, MECIL Guanylate cyclase 2C (heat stable enterotoxin receptor) GUCY2C 2984 ENSG00000070019 Diarrhea 6, 614616 (3), Autosomal dominant; Meconium ileus, 614665 (3), Autosomal recessive Gucy2c (MGI:106903) -chr12 14770719 14771130 12p13.1 12p12.3 615069 HIST4H4 Histone gene cluster 4, H4 histone H4-16 121504 ENSG00000197837 H4f16 (MGI:2448443) -chr12 14784581 14803477 12p12.3 12p12.3 618083 WBP11, NPWBP, SIPP1, VCTERL WW-binding protein 11 WBP11 51729 ENSG00000084463 Vertebral, cardiac, tracheoesophageal, renal, and limb defects, 619227 (3), Autosomal dominant Wbp11 (MGI:1891823) -chr12 14825568 14843525 12p13-p12 12p12.3 110600 ART4, DO, DOK1 ADP-ribosyltransferase-4 (Dombrock blood group) ART4 420 ENSG00000111339 [Blood group, Dombrock], 616060 (3) Art4 (MGI:1202710) -chr12 14880863 14885853 12p13.1-p12.3 12p12.3 154870 MGP Matrix Gla protein MGP 4256 ENSG00000111341 Keutel syndrome, 245150 (3), Autosomal recessive Mgp (MGI:96976) -chr12 14914038 14938536 12p12.3 12p12.3 610642 ERP27, C12orf46 Endoplasmic reticulum protein, 27kD ERP27 121506 ENSG00000139055 Erp27 (MGI:1916437) -chr12 14942014 14961600 12p12.3 12p12.3 602843 ARHGDIB, GDID4, D4 Rho GDP dissociation inhibitor (GDI) beta ARHGDIB 397 ENSG00000111348 Arhgdib (MGI:101940) -chr12 14973041 14981864 12p13 12p12.3 601190 PDE6H, RCD3, ACHM6 Phosphodiesterase 6H, cGMP-specific, cone, gamma PDE6H 5149 ENSG00000139053 Retinal cone dystrophy 3, 610024 (3), Autosomal dominant, Autosomal recessive; Achromatopsia 6, 610024 (3), Autosomal dominant, Autosomal recessive Pde6h (MGI:1925850) -chr12 15107782 15221416 12p12 12p12.3 612664 RERG Ras-like and estrogen-regulated growth inhibitor RERG 85004 ENSG00000134533 Rerg (MGI:2665139) -chr12 15322333 15598330 12p13-p12 12p12.3 600579 PTPRO, GLEPP1, NPHS6 Protein tyrosine phosphatase, receptor type, O PTPRO 5800 ENSG00000151490 Nephrotic syndrome, type 6, 614196 (3), Autosomal recessive Ptpro (MGI:1097152) -chr12 15620133 15789387 12p12.3 12p12.3 600206 EPS8, DFNB102 Epidermal growth factor receptor pathway substrate-8 EPS8 2059 ENSG00000151491 mutation identified in 1 DFNB102 family ?Deafness, autosomal recessive 102, 615974 (3), Autosomal recessive Eps8 (MGI:104684) -chr12 15882381 15903477 12p12.3 12p12.3 605986 STRAP, UNRIP, MAWD Serine/threonine kinase receptor-associated protein STRAP 11171 ENSG00000023734 previously assigned to 12q Strap (MGI:1329037) -chr12 16347114 16377191 Chr.12 12p12.3 138330 MGST1, GST12 Microsomal glutathione S-transferase 1 MGST1 4257 ENSG00000008394 pseudogene at 12q13-q14 Mgst1 (MGI:1913850) -chr12 16548371 16610232 12p13 12p12.3 180386 LMO3, RBTNL2, RHOM3 LIM domain only 3 (rhombotin-like 2) LMO3 55885 ENSG00000048540 expressed mainly in brain Lmo3 (MGI:102810) -chr12 16988746 16990627 12p12 12p12.3 601435 SKP1P2, SKP1B S-phase kinase-associated protein 1 pseudogene 2 (p19B) SKP1P2 728622 -chr12 18242945 18716860 12p12 12p12.3 609001 PIK3C2G Phosphatidylinositol 3-kinase, class 2, gamma PIK3C2G 5288 ENSG00000139144 Pik3c2g (MGI:1203730) -chr12 18645528 18738051 12p12.3 12p12.3 608075 PLCZ1, SPGF17 Phospholipase C, zeta-1 PLCZ1 89869 ENSG00000139151 Spermatogenic failure 17, 617214 (3), Autosomal recessive Plcz1 (MGI:2150308) -chr12 18738118 18739187 12p12 12p12.3 608722 CAPZA3, CAPPA3 Capping protein, actin, alpha-3 CAPZA3 93661 ENSG00000177938 Capza3 (MGI:106221) -chr12 19129679 19376399 12p12 12p12.3 607770 PEPP2, KIAA1686 Phosphatidylinositol 3-phosphate-binding PH domain protein 2 PLEKHA5 54477 ENSG00000052126 Plekha5 (MGI:1923802) -chr12 19404100 19522226 12p12.3 12p12.3 617934 AEBP2 AE-binding protein 2 AEBP2 121536 ENSG00000139154 Aebp2 (MGI:1338038) -chr12 19800000 26300000 12p12.2-p12.1 608742 HYT4 Hypertension, essential, susceptibility to, 4 444980 {Hypertension, essential, susceptibility to, 4}, 145500 (2), Multifactorial -chr12 20368536 20688582 12p12.2 12p12.2 123805 PDE3A, HTNB Phosphodiesterase 3A, cGMP-inhibited PDE3A 5139 ENSG00000172572 Hypertension and brachydactyly syndrome, 112410 (3), Autosomal dominant Pde3a (MGI:1860764) -chr12 20681799 20753385 12p12 12p12.2 613389 SLCO1C1, OATPF, OATP14, SLC21A14 Solute carrier organic anion transporter family, member 1C1 SLCO1C1 53919 ENSG00000139155 Slco1c1 (MGI:1889679) -chr12 20810704 20916910 12p12.2 12p12.2 605495 SLCO1B3, OATP8, OATP1B3, SLC21A8, HBLRR Solute carrier organic anion transporter family, member 1B3 SLCO1B3 28234 ENSG00000111700 HBLRR digenic with SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive Slco1b2 (MGI:1351899) -chr12 21131193 21239795 12p12 12p12.1 604843 SLCO1B1, LST1, OATP2, OATPC, OATP1B1, HBLRR Solute carrier organic anion transporter family, member 1B1 SLCO1B1 10599 ENSG00000134538 HBLRR digenic with SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive Slco1b2 (MGI:1351899) -chr12 21264599 21419633 12p12 12p12.1 602883 SLC21A3, OATP Solute carrier family 21 (organic anion transporter), member 3 SLCO1A2 6579 ENSG00000084453 Slco1a5,Slco1a6,Slco1a4,Slco1a1,Gm5724 (MGI:1351865,MGI:1351896,MGI:1351906,MGI:1351891,MGI:3643685) -chr12 21354958 21379979 12p12.3-p12.1 12p12.1 147940 IAPP Islet amyloid polypeptide (diabetes-associated peptide; amylin) IAPP 3375 ENSG00000121351 Iapp (MGI:96382) -chr12 21437629 21471249 12p12.1 12p12.1 617220 PYROXD1, MFM8 Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 PYROXD1 79912 ENSG00000121350 Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive Pyroxd1 (MGI:2676395) -chr12 21468909 21501634 12p12-p11 12p12.1 600537 RECQL, RECQL1 RecQ helicase-like (DNA helicase, RecQ-like 1) RECQL 5965 ENSG00000004700 Recql (MGI:103021) -chr12 21501175 21518407 12p12.1 12p12.1 615078 GOLT1B, GOT1B, GCT2 Golgi transport 1B GOLT1B 51026 ENSG00000111711 Golt1b (MGI:1914214) -chr12 21526295 21532946 12p12 12p12.1 619246 SPX, C12orf39 Spexin hormone SPX 80763 ENSG00000134548 Spx (MGI:2442262) -chr12 21531526 21604857 12p12.2 12p12.1 138571 GYS2 Glycogen synthase-2, liver GYS2 2998 ENSG00000111713 Glycogen storage disease 0, liver, 240600 (3), Autosomal recessive Gys2 (MGI:2385254) -chr12 21635341 21657970 12p12.2-p12.1 12p12.1 150100 LDHB, LDHBD Lactate dehydrogenase B LDHB 3945 ENSG00000111716 [Lactate dehydrogenase-B deficiency], 614128 (3) Ldhb (MGI:96763) -chr12 21764954 21775592 12p11.23 12p12.1 600935 KCNJ8 Potassium inwardly-rectifying channel, subfamily J, member 8 KCNJ8 3764 ENSG00000121361 Kcnj8 (MGI:1100508) -chr12 21797388 21941862 12p12.1 12p12.1 601439 ABCC9, SUR2, CMD1O, ATFB12, CANTU ATP-binding cassette, subfamily C, member 9 (sulfonylurea receptor 2) ABCC9 10060 ENSG00000069431 mutation identified in 1 ATFB12 patient Cardiomyopathy, dilated, 1O, 608569 (3), Autosomal dominant; Hypertrichotic osteochondrodysplasia, 239850 (3), Autosomal dominant; ?Atrial fibrillation, familial, 12, 614050 (3), Autosomal dominant Abcc9 (MGI:1352630) -chr12 22046217 22065667 12p12.1 12p12.1 603316 CMAS Cytidine monophosphate N-acetylneuraminic acid synthetase CMAS 55907 ENSG00000111726 Cmas (MGI:1337124) -chr12 22193390 22334706 12p12.1-p11.2 12p12.1 601123 SIAT8 Sialyltransferase-8 (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase) ST8SIA1 6489 ENSG00000111728 St8sia1 (MGI:106011) -chr12 22448576 22544541 12p12.1 12p12.1 618044 C2CD5, CDP138, KIAA0528 C2 calcium-dependent domain-containing protein 5 C2CD5 9847 ENSG00000111731 C2cd5 (MGI:1921991) -chr12 22625144 22690664 12p12.1-p11.2 12p12.1 609858 ETNK1, EKI1 Ethanolamine kinase 1 ETNK1 55500 ENSG00000139163 Etnk1 (MGI:1922570) -chr12 23529498 24562700 12p12.1 12p12.1 604975 SOX5, LAMSHF SRY-box 5 SOX5 6660 ENSG00000134532 some LAMSHF patients have 12p12 deletions Lamb-Shaffer syndrome, 616803 (3), Autosomal dominant Sox5 (MGI:98367) -chr12 24810023 24949100 12p12 12p12.1 113520 BCAT1, BCT1 Branched chain aminotransferase-1, cytosolic BCAT1 586 ENSG00000060982 Bcat1 (MGI:104861) -chr12 24917701 24918383 12p12.1-p11.2 12p12.1 609860 DADR DAD1-related gene DAD1P1 56286 -chr12 24997574 25108334 12p12.1 12p12.1 602003 LRMP, JAW1 Lymphoid-restricted membrane protein IRAG2 4033 ENSG00000118308 Irag2 (MGI:108424) -chr12 25107056 25195159 12p12.1 12p12.1 616906 CASC1, LAS1, PPP1R54 Cancer susceptibility candidate 1 DNAI7 55259 ENSG00000118307 Casc1 (MGI:2444480) -chr12 25205245 25250928 12p12.1 12p12.1 190070 KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES KRAS protooncogene, GTPase KRAS 3845 ENSG00000133703 pseudogene KRAS1P on 6p12-p11 Gastric cancer, somatic, 137215 (3); Oculoectodermal syndrome, somatic, 600268 (3); Breast cancer, somatic, 114480 (3); Noonan syndrome 3, 609942 (3), Autosomal dominant; RAS-associated autoimmune leukoproliferative disorder, 614470 (3), Autosomal dominant; Arteriovenous malformation of the brain, somatic, 108010 (3); Lung cancer, somatic, 211980 (3); Pancreatic carcinoma, somatic, 260350 (3); Leukemia, acute myeloid, somatic, 601626 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); Cardiofaciocutaneous syndrome 2, 615278 (3), Autosomal dominant; Bladder cancer, somatic, 109800 (3) Kras (MGI:96680) -chr12 25476081 25648603 12p12.1 12p12.1 617254 LMNTD1, IFLTD1, LMNARS1, PAS1C1 Lamin tail domain-containing protein 1 LMNTD1 160492 ENSG00000152936 Lmntd1 (MGI:1921321) -chr12 25958231 26079888 12p12.1 12p12.1 608231 RASSF8, C12orf2 Ras association domain family, member 8 RASSF8 11228 ENSG00000123094 Rassf8 (MGI:1918573) -chr12 26120029 26125036 12p12.1-p11.23 12p12.1 606200 BHLHE41, BHLHB3, DEC2, SHARP1, FNSS1 Basic helix-loop-helix domain-containing protein, member E41 BHLHE41 79365 ENSG00000123095 [Short sleep, familial natural, 1], 612975 (3), Autosomal dominant Bhlhe41 (MGI:1930704) -chr12 26121950 26234776 12p11.2 12p12.1 601599 SSPN, KRAG Sarcospan (Kirsten-ras associated gene) SSPN 8082 ENSG00000123096 Sspn (MGI:1353511) -chr12 26300000 51100000 12p11.23-q13.12 602096 AD5 Alzheimer disease, familial, type 5 8081 Alzheimer disease-5, 602096 (2), Autosomal dominant -chr12 26335351 26833196 12p11 12p11.23 600144 ITPR2, ANHD Inositol 1,4,5-triphosphate receptor, type 2 ITPR2 3709 ENSG00000123104 mutation has been identified in 1 ANHD family ?Anhidrosis, isolated, with normal sweat glands, 106190 (3), Autosomal recessive Itpr2 (MGI:99418) -chr12 26905170 26938337 12p11.23 12p11.23 615079 ASUN, MAT89BB, GCT1 Asunder, spermatogenesis regulator INTS13 55726 ENSG00000064102 Ints13 (MGI:1918427) -chr12 26938469 26966647 12p11.23 12p11.23 608858 FGFR1OP2 Fibroblase growth factor receptor 1 oncogene partner 2 FGFR1OP2 26127 ENSG00000111790 Fgfr1op2 (MGI:1914779) -chr12 26966523 27014426 12q11-q12 12p11.23 605181 TM7SF3 Transmembrane 7 superfamily, member 3 TM7SF3 51768 ENSG00000064115 Tm7sf3 (MGI:1914873) -chr12 27022557 27030672 12p11.23 12p11.23 603800 MED21, SURB7, SRB7 Mediator complex subunit 21 MED21 9412 ENSG00000152944 Med21 (MGI:1347064) -chr12 27244232 27325958 12p12.3 12p11.23 615836 STK38L, NDR2, KIAA0965 Serine/threonine protein kinase 38-like protein STK38L 23012 ENSG00000211455 Stk38l (MGI:1922250) -chr12 27332835 27425285 12p11.23 12p11.23 614517 ARNTL2, BMAL2, CLIF Aryl hydrocarbon receptor nuclear translocator-like protein 2 ARNTL2 56938 ENSG00000029153 Arntl2 (MGI:2684845) -chr12 27524125 27695563 12p11.2 12p11.23-p11.22 603141 PPFIBP1 Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting protein-binding protein 1 PPFIBP1 8496 ENSG00000110841 Ppfibp1 (MGI:1914783) -chr12 27696446 27697595 12p11.22 12p11.22 610848 REP15 Rab15 effector protein REP15 387849 ENSG00000174236 Rep15 (MGI:1913782) -chr12 27710772 27756294 12q21.1-q21.3 12p11.22 611995 MRPS35, MRPS28 Mitochondrial ribosomal protein S35 MRPS35 60488 ENSG00000061794 3 pseudogenes Mrps35 (MGI:2385255) -chr12 27780232 27803039 12p11.22 12p11.22 618919 KLHL42, KLHDC5, CTB9 Kelch-like family, member 42 KLHL42 57542 ENSG00000087448 Klhl42 (MGI:2444786) -chr12 27958083 27972863 12p12.1-p11.2 12p11.22 168470 PTHLH, BDE2 Parathyroid hormone-like hormone PTHLH 5744 ENSG00000087494 Brachydactyly, type E2, 613382 (3), Autosomal dominant Pthlh (MGI:97800) -chr12 28190445 28550165 12p11.22 12p11.22 617366 CCDC91 Coiled-coil domain-containing protein 91 CCDC91 55297 ENSG00000123106 Ccdc91 (MGI:1914265) -chr12 29149100 29335616 12p11.23 12p11.22 616156 FAR2, MLSTD1 Fatty acyl CoA reductase 2 FAR2 55711 ENSG00000064763 Far2 (MGI:2687035) -chr12 29336543 29381171 12p11.22 12p11.22 612236 ERGIC2, CDA14, PTX1 Endoplasmic reticulum-golgi intermediate compartment protein 2 ERGIC2 51290 ENSG00000087502 Ergic2 (MGI:1914706) -chr12 29500812 29784758 12p11.22 12p11.22 615855 TMTC1 Transmembrane and tetratricopeptide repeat domains-containing protein 1 TMTC1 83857 ENSG00000133687 Tmtc1 (MGI:3039590) -chr12 30500000 54500000 12p11.2-q13.1 615022 ARCI7 Ichthyosis, congenital, autosomal recessive 7 101202686 between D12S345 and D12S390 Ichthyosis, congenital, autosomal recessive 7, 615022 (2), Autosomal recessive -chr12 30500000 67300000 12p11.2-q14 606257 STQTL3 Stature quantitative trait locus 3 282549 max lod at D12S398 and D12S10990 {Stature QTL 3}, 606257 (2) -chr12 30628980 30695985 12p11.21 12p11.21 605600 IPO8, RANBP8, VISS Importin 8 IPO8 10526 ENSG00000133704 VISS syndrome, 619472 (3), Autosomal recessive Ipo8 (MGI:2444611) -chr12 30709551 30754950 12p11.21 12p11.21 610375 CAPRIN2, C1QDC1, EEG1, KIAA1873 Caprin family, member 2 CAPRIN2 65981 ENSG00000110888 Caprin2 (MGI:2448541) -chr12 31073859 31104798 12p11 12p11.21 601150 DDX11, CHLR1, KRG2 DEAD/H-box helicase 11 DDX11 1663 ENSG00000013573 Warsaw breakage syndrome, 613398 (3), Autosomal recessive Ddx11 (MGI:2443590) -chr12 31280583 31326217 12p11 12p11.21 615027 SINHCAF, FAM60A SIN3-HDAC complex associated factor SINHCAF 58516 ENSG00000139146 Sinhcaf (MGI:1929091) -chr12 31382225 31591135 12p11.21 12p11.21 617279 DENND5B DENN domain-containing protein 5B DENND5B 160518 ENSG00000170456 Dennd5b (MGI:2444273) -chr12 31647159 31673113 12p11.21 12p11.21 615256 ETFBKMT, METTL20, C12orf72 Electron transfer flavoprotein beta-subunit lysine methyltransferase ETFBKMT 254013 ENSG00000139160 Etfbkmt (MGI:2443575) -chr12 31791184 31792297 12p11.21 12p11.21 616134 H3F3C H3 histone, family 3C H3-5 440093 ENSG00000188375 -chr12 32106772 32383636 12p11.2-p11.1 12p11.21 602204 BICD1 BICD cargo adaptor 1 BICD1 636 ENSG00000151746 Bicd1 (MGI:1101760) -chr12 32399522 32646049 12p11.2 12p11.21 611104 FGD4, FRABIN, CMT4H FYVE, RhoGEF, and PH domain-containing protein 4 FGD4 121512 ENSG00000139132 Charcot-Marie-Tooth disease, type 4H, 609311 (3), Autosomal recessive Fgd4 (MGI:2183747) -chr12 32679295 32745649 12p11.21 12p11.21 603850 DNM1L, DRP1, DVLP, DYMPLE, EMPF1, OPA5 Dynamin 1-like DNM1L 10059 ENSG00000087470 Optic atrophy 5, 610708 (3), Autosomal dominant; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3), Autosomal dominant, Autosomal recessive Dnm1l (MGI:1921256) -chr12 32725246 32756457 12p11.21 12p11.21 610957 YARS2, TYRRS, MLASA2 Tyrosyl-tRNA synthetase 2 YARS2 51067 ENSG00000139131 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3), Autosomal recessive Yars2 (MGI:1917370) -chr12 32790754 32896776 12p11 12p11.21 602861 PKP2, ARVD9 Plakophilin-2 PKP2 5318 ENSG00000057294 pseudogene on 12p13 Arrhythmogenic right ventricular dysplasia 9, 609040 (3), Autosomal dominant Pkp2 (MGI:1914701) -chr12 33200000 57700000 12p11-q13 615390 VUR7 Vesicoureteral reflux 7 102095631 max lod at D12S1048 Vesicoureteral reflux 7, 615390 (2) -chr12 34022314 34035295 12p11.1 12p11.1 618355 ALG10, ALG10A ALG10 alpha-1,2-glucosyltransferase ALG10 84920 ENSG00000139133 Alg10b (MGI:2146159) -chr12 35500000 133275309 12q 179010 IHPS1, IHPS Pyloric stenosis, infantile hypertrophic 1 Pyloric stenosis, infantile hypertrophic 1, 179010 (2), Autosomal dominant, Multifactorial -chr12 37800000 92200000 12q12-q21 102300 RLS1 Restless legs syndrome, susceptibility to, 1 192142 between D12S1044 and D12S78 {Restless legs syndrome 1}, 102300 (2), Autosomal dominant -chr12 38316678 38329724 12q12 12q12 603313 ALG10B, KCR1, ALG10 ALG10 alpha-1,2-glucosyltransferase B ALG10B 144245 ENSG00000175548 {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3), Autosomal dominant Alg10b (MGI:2146159) -chr12 39293227 39443146 12q12 12q12 608283 KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B Kinesin family member 21A KIF21A 55605 ENSG00000139116 Fibrosis of extraocular muscles, congenital, 3B, 135700 (3), Autosomal dominant; Fibrosis of extraocular muscles, congenital, 1, 135700 (3), Autosomal dominant Kif21a (MGI:109188) -chr12 39530964 39651332 12q11-q12 12q12 601081 ABCD2, ALDR, ALDL1 ATP-binding cassette, subfamily D, member 2 ABCD2 225 ENSG00000173208 Abcd2 (MGI:1349467) -chr12 39755020 40106084 12q12 12q12 611036 SLC2A13, HMIT Solute carrier family 2 (facilitated glucose transporter), member 13 SLC2A13 114134 ENSG00000151229 Slc2a13 (MGI:2146030) -chr12 40224889 40369284 12q12 12q12 609007 LRRK2, PARK8 Leucine-rich repeat kinase 2 (dardarin) LRRK2 120892 ENSG00000188906 {Parkinson disease 8}, 607060 (3), Autosomal dominant Lrrk2 (MGI:1913975) -chr12 40393393 40570756 12q12 12q12 612170 MUC19 Mucin 19, oligomeric MUC19 283463 ENSG00000205592 Muc19 (MGI:2676278) -chr12 40692428 41072414 12q11-q12 12q12 600016 CNTN1, MYPCN Contactin 1 CNTN1 1272 ENSG00000018236 mutation identified in 1 MYPCN family ?Myopathy, congenital, Compton-North, 612540 (3), Autosomal recessive Cntn1 (MGI:105980) -chr12 41188319 41574744 12q12 12q12 609730 PDZRN4 PDZ domain-containing ring finger protein 4 PDZRN4 29951 ENSG00000165966 Pdzrn4 (MGI:3056996) -chr12 42081844 42144873 12q12 12q12 613321 GXYLT1, GLT8D3 Glucoside xylosyltransferase 1 GXYLT1 283464 ENSG00000151233 Gxylt1 (MGI:2684933) -chr12 42157103 42238372 12q12 12q12 607534 YAF2 YY1-associated factor 2 YAF2 10138 ENSG00000015153 Yaf2 (MGI:1914307) -chr12 42312085 42326106 12q12 12q12 610750 ZCRB1, MADP1 Zinc finger CCHC domain- and RNA-binding motif-containing protein 1 ZCRB1 85437 ENSG00000139168 possible pseudogenes on chr16, X, and 6 Zcrb1 (MGI:1914447) -chr12 42326125 42448620 12q12 12q12 608150 PPHLN1 Periphilin 1 PPHLN1 51535 ENSG00000134283 Pphln1 (MGI:1917029) -chr12 42456756 42589754 12q12 12q12 608500 PRICKLE1, RILP, EPM1B Prickle-like 1 PRICKLE1 144165 ENSG00000139174 Epilepsy, progressive myoclonic 1B, 612437 (3), Autosomal recessive Prickle1 (MGI:1916034) -chr12 43352842 43552202 12q11 12q12 611681 ADAMTS20 ADAM metallopeptidase domain with thrombospondin type 1 motif, 20 ADAMTS20 80070 ENSG00000173157 Adamts20 (MGI:2660628) -chr12 43758908 43789542 12q12 12q12 606883 IRAK4, REN64, IPD1, IMD67 Interleukin 1 receptor-associated kinase 4 IRAK4 51135 ENSG00000198001 Immunodeficiency 67, 607676 (3), Autosomal recessive Irak4 (MGI:2182474) -chr12 43793722 43806316 12q12 12q12 610932 TWF1, PTK9 Twinfilin actin-binding protein 1 TWF1 5756 ENSG00000151239 Twf1 (MGI:1100520) -chr12 44508274 44921847 12q13.11-q13.12 12q12 602320 NELL2 Nel-like 2 NELL2 4753 ENSG00000184613 Nell2 (MGI:1858510) -chr12 45216032 45440403 12q12 12q12 608663 ANO6, TMEM16F, SCTS, BDPLT7 Anoctamin 6 ANO6 196527 ENSG00000177119 Scott syndrome, 262890 (3), Autosomal recessive Ano6 (MGI:2145890) -chr12 45729705 45908036 12q12 12q12 609539 ARID2, BAF200, KIAA1557, CSS6 AT-rich interaction domain-containing protein 2 ARID2 196528 ENSG00000189079 Coffin-Siris syndrome 6, 617808 (3), Autosomal dominant Arid2 (MGI:1924294) -chr12 45919130 45992039 12q12-q13.11 12q12 603668 SCAF11, SFRS2IP, SIP1, CASP11, SRRP129 SR-related C-terminal domain-associated factor 11 SCAF11 9169 ENSG00000139218 previously assigned to 21q22.3 Scaf11 (MGI:1919443) -chr12 46000000 71100000 12q13.11-q15 614346 MRT25 Mental retardation, autosomal recessive 25 100852403 between rs4760658 and rs1882033 Mental retardation, autosomal recessive 25, 614346 (2), Autosomal recessive -chr12 46183062 46269148 12q13.11 12q13.11 608490 SLC38A1 Solute carrier family 38 (amino acid transporter), member 1 SLC38A1 81539 ENSG00000111371 Slc38a1 (MGI:2145895) -chr12 46358187 46372773 12q13.11 12q13.11 605180 SLC38A2, ATA2, KIAA1382 Solute carrier family 38, member 2 SLC38A2 54407 ENSG00000134294 Slc38a2 (MGI:1915010) -chr12 46764760 46832421 12q13 12q13.11 608065 SLC38A4, NAT3, ATA3 Solute carrier family 38 (amino acid transporter), member 4 SLC38A4 55089 ENSG00000139209 Slc38a4 (MGI:1916604) -chr12 47075706 47079958 12q13.11 12q13.11 615690 AMIGO2, ALI1 Adhesion molecule with Ig-like domain 2 AMIGO2 347902 ENSG00000139211 Amigo2 (MGI:2145995) -chr12 47661248 47706029 12q13.11 12q13.11 611477 RPAP3 RNA polymerase II-associated protein 3 RPAP3 79657 ENSG00000005175 Rpap3 (MGI:1277218) -chr12 47709733 47725489 12q13.1 12q13.11 606720 ENDOU, PP11 Endonuclease polyU-specific ENDOU 8909 ENSG00000111405 Endou (MGI:97746) -chr12 47753618 47782752 12q13 12q13.11 612187 HRG1 Heme-responsive gene 1 SLC48A1 55652 ENSG00000211584 Slc48a1 (MGI:1914989) -chr12 47734362 47758879 Chr.12 12q13.11 606057 EPAC cAMP-regulated guanine nucleotide exchange factor I RAPGEF3 10411 ENSG00000079337 Rapgef3 (MGI:2441741) -chr12 47782721 47820611 Chr.12 12q13.11 606542 HDAC7A, HDAC7 Histone deacetylase 7A HDAC7 51564 ENSG00000061273 Hdac7 (MGI:1891835) -chr12 47841536 47905021 12q12-q14 12q13.11 601769 VDR Vitamin D (1,25-dihydroxyvitamin D3) receptor VDR 7421 ENSG00000111424 Rickets, vitamin D-resistant, type IIA, 277440 (3), Autosomal recessive Vdr (MGI:103076) -chr12 47972966 48006211 12q13.11-q13.2 12q13.11 120140 COL2A1 Collagen II, alpha-1 polypeptide COL2A1 1280 ENSG00000139219 mutation identified in 1 VPED family ?Vitreoretinopathy with phalangeal epiphyseal dysplasia, 619248 (3), Autosomal dominant; Czech dysplasia, 609162 (3), Autosomal dominant; Achondrogenesis, type II or hypochondrogenesis, 200610 (3), Autosomal dominant; Spondyloperipheral dysplasia, 271700 (3), Autosomal dominant; SMED Strudwick type, 184250 (3), Autosomal dominant; Stickler sydrome, type I, nonsyndromic ocular, 609508 (3), Autosomal dominant; ?Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3), Autosomal dominant; SED congenita, 183900 (3), Autosomal dominant; Kniest dysplasia, 156550 (3), Autosomal dominant; Osteoarthritis with mild chondrodysplasia, 604864 (3), Autosomal dominant; Stickler syndrome, type I, 108300 (3), Autosomal dominant; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3), Autosomal dominant; Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3), Autosomal dominant; Avascular necrosis of the femoral head, 608805 (3), Autosomal dominant; Legg-Calve-Perthes disease, 150600 (3), Autosomal dominant Col2a1 (MGI:88452) -chr12 48042892 48106307 12q13.1 12q13.11 612157 SENP1 Sentrin-specific protease family, member 1 SENP1 29843 ENSG00000079387 Senp1 (MGI:2445054) -chr12 48105352 48146403 12q13.3 12q13.11 610681 PFKM, GSD7 Phosphofructokinase, muscle type PFKM 5213 ENSG00000152556 incorrectly assigned to chr.1 Glycogen storage disease VII, 232800 (3), Autosomal recessive Pfkm (MGI:97548) -chr12 48147788 48157514 12q13 12q13.11 615053 ASB8 Ankyrin repeat- and SOCS box-containing protein 8 ASB8 140461 ENSG00000177981 Asb8 (MGI:1925791) -chr12 48328979 48330278 12q13.11 12q13.11 618565 H1-7, H1FNT, HANP1, H1T2 H1.7 linker histone H1-7 341567 ENSG00000187166 H1f7 (MGI:1917319) -chr12 48334379 48351413 12q13.11 12q13.11 613906 ZNF641 Zinc finger protein 641 ZNF641 121274 ENSG00000167528 Zfp641 (MGI:2442788) -chr12 48472558 48473621 12q13.11 12q13.11 606878 ANP32D, PP32R2 Acidic leucine-rich nuclear phosphoprotein 32 family, member D ANP32D 23519 ENSG00000139223 Anp32a (MGI:108447) -chr12 48567683 48571844 12q13 12q13.11 149750 LALBA Lactalbumin, alpha LALBA 3906 ENSG00000167531 Lalba (MGI:96742) -chr12 48653210 48682237 12q13.11 12q13.11 615488 KANSL2, NSL2, C12orf41 KAT8 regulatory NSL complex, subunit 2 KANSL2 54934 ENSG00000139620 Kansl2 (MGI:1916862) -chr12 48654381 48654517 12q13.11 12q13.11 615487 SNORA2C, SNORA34, ACA34, MIR1291 Small nucleolar RNA, H/ACA box, 34 SNORA2C 677815 ENSG00000221491 MIR1291 in intron of SNORA34 -chr12 48688457 48716706 12q11-q13.3 12q13.11-q13.12 143055 CCNT1, CCNT Cyclin T1 CCNT1 904 ENSG00000129315 Ccnt1 (MGI:1328363) -chr12 48766193 48789088 12q12-q13 12q13.12 600294 ADCY6, LCCS8 Adenylate cyclase-6 ADCY6 112 ENSG00000174233 Lethal congenital contracture syndrome 8, 616287 (3), Autosomal recessive Adcy6 (MGI:87917) -chr12 48814431 48828940 12q13 12q13.12 601958 CACNB3 Calcium channel, voltage-dependent, beta 3 subunit CACNB3 784 ENSG00000167535 Cacnb3 (MGI:103307) -chr12 48829755 48852162 12q13.12 12q13.12 612172 DDX23, PRP28 DEAD-box helicase 23 DDX23 9416 ENSG00000174243 Ddx23 (MGI:1921601) -chr12 48857144 48865869 12q13.12 12q13.12 609038 RND1, RHO6 Rho family GTPase 1 RND1 27289 ENSG00000172602 Rnd1 (MGI:2444878) -chr12 48904132 48921575 12q13.12 12q13.12 611088 CCDC65, CILD27 Coiled-coil domain-containing protein 65 CCDC65 85478 ENSG00000139537 Ciliary dyskinesia, primary, 27, 615504 (3), Autosomal recessive Ccdc65 (MGI:2146001) -chr12 48921962 48925491 12q13 12q13.12 610571 FKBP11, FKBP19 FK506-binding protein 11 FKBP11 51303 ENSG00000134285 Fkbp11 (MGI:1913370) -chr12 48930251 48957525 12q13 12q13.12 103190 ARF3 ADP-ribosylation factor-3 ARF3 377 ENSG00000134287 Arf3 (MGI:99432) -chr12 48965339 48979586 12q13 12q13.12 601906 WNT10B, SHFM6, STHAG8 Wingless-type MMTV integration site family, member 10B WNT10B 7480 ENSG00000169884 Tooth agenesis, selective, 8, 617073 (3), Autosomal dominant; Split-hand/foot malformation 6, 225300 (3), Autosomal recessive Wnt10b (MGI:108061) -chr12 48978321 48982619 12q12-q13 12q13.12 164820 WNT1, INT1, OI15, BMND16 Wingless-type MMTV integration site family, member 1 (oncogene INT1) WNT1 7471 ENSG00000125084 {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3); Osteogenesis imperfecta, type XV, 615220 (3), Autosomal recessive Wnt1 (MGI:98953) -chr12 48995148 49001772 12q13.1 12q13.12 610588 DDN, KIAA0749 Dendrin DDN 23109 ENSG00000181418 Ddn (MGI:108101) -chr12 49002271 49018974 12q13.1 12q13.12 602742 PRKAG1 Protein kinase, AMP-activated, noncatalytic, gamma-1 PRKAG1 5571 ENSG00000181929 Prkag1 (MGI:108411) -chr12 49018974 49060883 12q13.12 12q13.12 602113 KMT2D, MLL2, ALR, KABUK1 Lysine (K)-specific methyltransferase 2D KMT2D 8085 ENSG00000167548 Kabuki syndrome 1, 147920 (3), Autosomal dominant Kmt2d (MGI:2682319) -chr12 49064675 49069978 12q13.12 12q13.12 618956 RHEBL1, RHEB2 RHEB-like protein 1 RHEBL1 121268 ENSG00000167550 Rhebl1 (MGI:1916409) -chr12 49086655 49094800 12q13.1 12q13.12 605423 DHH, SRXY7, GDMN Desert hedgehog signaling molecule DHH 50846 ENSG00000139549 46XY gonadal dysgenesis with minifascicular neuropathy, 607080 (3), Autosomal recessive; 46XY sex reversal 7, 233420 (3), Autosomal recessive Dhh (MGI:94891) -chr12 49096550 49110896 12q13.12 12q13.12 610007 LMBR1L, LIMR, KIAA1174 Limb region 1 homolog-like LMBR1L 55716 ENSG00000139636 Lmbr1l (MGI:1289247) -chr12 49127781 49131394 12q13.12 12q13.12 602530 TUBA1B Tubulin, alpha-1B TUBA1B 10376 ENSG00000123416 Tuba1b (MGI:107804) -chr12 49184794 49189079 12q12-q14 12q13.12 602529 TUBA1A, TUBA3, LIS3 Tubulin, alpha-1A TUBA1A 7846 ENSG00000167552 Lissencephaly 3, 611603 (3), Autosomal dominant Tuba1a (MGI:98869) -chr12 49295143 49298697 12q12-q13 12q13.12 170710 PRPH Peripherin PRPH 5630 ENSG00000135406 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal dominant, Autosomal recessive Prph (MGI:97774) -chr12 49323254 49331732 12q13.12 12q13.12 603872 TROAP, TASTIN Trophinin-associated protein TROAP 10024 ENSG00000135451 Troap (MGI:1925983) -chr12 49332408 49337194 12q13 12q13.12 615229 C1QL4, CTRP11 Complement component 1, q subcomponent-like 4 C1QL4 338761 ENSG00000186897 C1ql4 (MGI:3579909) -chr12 49366908 49527440 12q13.2 12q13.12 611667 SPATS2, SPATA10, P59SCR, SCR59 Spermatogenesis-associated serine-rich protein 2 SPATS2 65244 ENSG00000123352 Spats2 (MGI:1919822) -chr12 49538540 49558336 12q13 12q13.12 604527 KCNH3, BEC1 Potassium voltage-gated channel, subfamily H (eag-related), member 3 KCNH3 23416 ENSG00000135519 Kcnh3 (MGI:1341723) -chr12 49558298 49568232 12q13.12 12q13.12 609504 MCRS1, MSP58, MCRS2 Microspherule protein 1 (microspherule protein 2, included) MCRS1 10445 ENSG00000187778 Mcrs1 (MGI:1858420) -chr12 49636498 49707404 12q13 12q13.12 616288 FMNL3, FRL2 Formin-like 3 FMNL3 91010 ENSG00000161791 Fmnl3 (MGI:109569) -chr12 49741556 49764933 12q13.12 12q13.12 600748 TMBIM6, TEGT Transmembrane BAX inhibitor motif-containing protein 6 TMBIM6 7009 ENSG00000139644 Tmbim6 (MGI:99682) -chr12 49791138 49828749 12q13.12 12q13.12 615104 NCKAP5L, KIAA1602 NCK-associated protein 5-like NCKAP5L 57701 ENSG00000167566 Nckap5l (MGI:3609653) -chr12 49866895 49903899 12q13 12q13.12 604306 FAIM2, LFG, NMP35 FAS apoptotic inhibitory molecule 2 FAIM2 23017 ENSG00000135472 Faim2 (MGI:1919643) -chr12 49950736 49958877 12q13 12q13.12 107777 AQP2, NDI2 Aquaporin-2 (collecting duct) AQP2 359 ENSG00000167580 Diabetes insipidus, nephrogenic, 2, 125800 (3), Autosomal dominant, Autosomal recessive Aqp2 (MGI:1096865) -chr12 49961854 49965681 12q13 12q13.12 600442 AQP5, PPKB Aquaporin-5 AQP5 362 ENSG00000161798 Palmoplantar keratoderma, Bothnian type, 600231 (3), Autosomal dominant Aqp5 (MGI:106215) -chr12 49972946 49977138 12q13 12q13.12 601383 AQP6, AQP2L Aquaporin-6, kidney specific AQP6 363 ENSG00000086159 Aqp6 (MGI:1341204) -chr12 49989161 50033205 12q13.12 12q13.12 604980 RCGAP1, MGCRACGAP, CYK4 GTPase-activating protein, Rac, 1 RACGAP1 29127 ENSG00000161800 Racgap1 (MGI:1349423) -chr12 50057595 50083621 12q12 12q13.12 602866 ACCN2 Cation channel, amiloride-sensitive, neuronal, 2 ASIC1 41 ENSG00000110881 Asic1 (MGI:1194915) -chr12 50085235 50100706 12q13-q14 12q13.12 601735 SMARCD1, BAF60A, CSS11 SW1/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 SMARCD1 6602 ENSG00000066117 Coffin-Siris syndrome 11, 618779 (3), Autosomal dominant Smarcd1 (MGI:1933623) -chr12 50104007 50111312 12q12-q13 12q13.12 138420 GPD1, HTGTI Glycerol-3-phosphate dehydrogenase, soluble GPD1 2819 ENSG00000167588 Hypertriglyceridemia, transient infantile, 614480 (3), Autosomal recessive Gpd1 (MGI:95679) -chr12 50112235 50120452 12q13.12 12q13.12 614478 COX14, C12orf62, MC4DN10 Cytochrome c oxidase assembly protein COX14 COX14 84987 ENSG00000178449 mutation identified in 1 MC4DN10 family ?Mitochondrial complex IV deficiency, nuclear type 10, 619053 (3), Autosomal recessive Cox14 (MGI:1913629) -chr12 50129288 50167370 12q13.12 12q13.12 615335 CERS5, LASS5, TRH4 Ceramide synthase 5 CERS5 91012 ENSG00000139624 Cers5 (MGI:1919199) -chr12 50175787 50283519 12q13 12q13.12 608364 LIMA1, EPLIN, SREBP3, LDLCQ8 LIM domain and actin-binding protein 1 LIMA1 51474 ENSG00000050405 [Low density lipoprotein cholesterol level QTL 8], 618079 (3) Lima1 (MGI:1920992) -chr12 50400861 50480003 12q13.12 12q13.12 618657 LARP4 La ribonucleoprotein 4 LARP4 113251 ENSG00000161813 Larp4 (MGI:2443114) -chr12 50504984 50748656 12q13.12 12q13.12 611379 DIP2B, KIAA1463 Disco-interacting protein 2 homolog B DIP2B 57609 ENSG00000066084 Mental retardation, FRA12A type, 136630 (3), Autosomal dominant Dip2b (MGI:2145977) -chr12 50763681 50821161 12q13 12q13.12 123803 ATF1, TREB36 Activating transcription factor 1 ATF1 466 ENSG00000123268 fused with EWS in soft tissue clear cell sarcoma, with FUS in angiomatoid fibrous histiocytoma Atf1 (MGI:1298366) -chr12 50925014 50932507 12q13.12 12q13.12 618338 METTL7A, AAMB Methyltransferase-like protein 7A METTL7A 25840 ENSG00000185432 Mettl7a2,Mettl7a3,Mettl7a1,Methig1 (MGI:3710670,MGI:3845761,MGI:3026615,MGI:1916523) -chr12 50952262 51028885 12q13 12q13.12 600523 SLC11A2, NRAMP2, DCT1, DMT1, AHMIO1 Solute carrier family 11 (proton-coupled divalent metal ion transporter) member 2 SLC11A2 4891 ENSG00000110911 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3), Autosomal recessive Slc11a2 (MGI:1345279) -chr12 51048219 51068957 12q13.12 12q13.12 619070 LETMD1, HCCR LETM1 domain-containing protein 1 LETMD1 25875 ENSG00000050426 Letmd1 (MGI:1915864) -chr12 51093655 51173134 12q13 12q13.12-q13.13 189889 TFCP2 Transcription factor CP2, alpha globin TFCP2 7024 ENSG00000135457 Tfcp2 (MGI:98509) -chr12 51100000 54500000 12q13.1 613488 MXLPO Myxoid liposarcoma fusion of DDIT3 and FUS Myxoid liposarcoma, 613488 (4) -chr12 51186935 51219874 12q13.13 12q13.13 618043 POU6F1, BRN5, MPOU POU domain, class 6, transcription factor 1 POU6F1 5463 ENSG00000184271 Pou6f1 (MGI:102935) -chr12 51281037 51324667 12q13.13 12q13.13 605936 BIN2 Bridging integrator 2 BIN2 51411 ENSG00000110934 previously mapped to 4q22.1 Bin2 (MGI:3611448) -chr12 51328441 51346678 12q13 12q13.13 130120 CELA1, ELA1 Chymotrypsin-like elastase family, member 1 CELA1 1990 ENSG00000139610 on proximal 12p Cela1 (MGI:95314) -chr12 51351251 51391954 12q13 12q13.13 605148 GALNT6, GalNAcT6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 GALNT6 11226 ENSG00000139629 Galnt6 (MGI:1891640) -chr12 51391316 51515762 Chr.12 12q13.13 605024 SLC4A8, NBC3 Solute carrier family 4 (sodium bicarbonate cotransporter), member 8 SLC4A8 9498 ENSG00000050438 Slc4a8 (MGI:1928745) -chr12 51591232 51812863 12q13 12q13.13 600702 SCN8A, CIAT, DEE13, BFIS5, MYOCL2 Sodium voltage-gated channel, alpha subunit 8 SCN8A 6334 ENSG00000196876 mutation identified in 1 MYOCL2 family ?Myoclonus, familial, 2, 618364 (3), Autosomal dominant; Seizures, benign familial infantile, 5, 617080 (3), Autosomal dominant; Cognitive impairment with or without cerebellar ataxia, 614306 (3), Autosomal dominant; Developmental and epileptic encephalopathy 13, 614558 (3), Autosomal dominant Scn8a (MGI:103169) -chr12 51906912 51923360 12q11-q14 12q13.13 601284 ACVRL1, ACVRLK1, ALK1, HHT2 Activin A receptor, type II-like kinase 1 ACVRL1 94 ENSG00000139567 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3), Autosomal dominant Acvrl1 (MGI:1338946) -chr12 51951695 51997077 12q13 12q13.13 601300 ACVR1B, ACVRLK4, ALK4 Activin A receptor, type IB ACVR1B 91 ENSG00000135503 Pancreatic cancer, somatic (3) Acvr1b (MGI:1338944) -chr12 52006945 52015888 12q13.13 12q13.13 612027 GRASP, TAMALIN GRP1-associated scaffold protein TAMALIN 160622 ENSG00000161835 Tamalin (MGI:1860303) -chr12 52022831 52059506 12q13 12q13.13 139139 NR4A1, HMR, NP10, GFRP1 Nuclear receptor subfamily 4, group A, member 1 NR4A1 3164 ENSG00000123358 Nr4a1 (MGI:1352454) -chr12 52069922 52077494 12q13.13 12q13.13 615089 ATG101, C12orf44 Autophagy related 101 ATG101 60673 ENSG00000123395 Atg101 (MGI:1915368) -chr12 52168995 52192013 12q13.13 12q13.13 611161 KRT80, KB20 Keratin 80 KRT80 144501 ENSG00000167767 Krt80 (MGI:1921377) -chr12 52233242 52252666 12q12-q14 12q13.13 148059 KRT7 Keratin 7 KRT7 3855 ENSG00000135480 Krt7 (MGI:96704) -chr12 52270506 52309162 12q13 12q13.13 601928 KRT86, KRTHB6, HB6 Keratin 86 KRT86 3892 ENSG00000170442 Monilethrix, 158000 (3), Autosomal dominant Krt87,Krt86 (MGI:3665486,MGI:109362) -chr12 52285912 52291533 12q13 12q13.13 602153 KRT81, KRTHB1, HB1 Keratin 81 KRT81 3887 ENSG00000205426 Monilethrix, 158000 (3), Autosomal dominant Krt81,Krt87,Krt83 (MGI:3665486,MGI:1928858,MGI:3690448) -chr12 52314300 52321397 12q13 12q13.13 602765 KRT83, KRTHB3, HB3, MNLIX, EKVP5 Keratin 83 KRT83 3889 ENSG00000170523 Monilethrix, 158000 (3), Autosomal dominant; Erythrokeratodermia variabilis et progressiva 5, 617756 (3), Autosomal recessive Krt87,Krt83 (MGI:3665486,MGI:3690448) -chr12 52360005 52367480 12q13 12q13.13 602767 KRT85, KRTHB5, HB5, ECTD4 Keratin 85 KRT85 3891 ENSG00000135443 Ectodermal dysplasia 4, hair/nail type, 602032 (3), Autosomal recessive Krt85 (MGI:1859268) -chr12 52377664 52386976 12q13.13 12q13.13 602766 KRT84, KRTHB4, HB4 Keratin 84 KRT84 3890 ENSG00000161849 Krt84 (MGI:96700) -chr12 52393930 52406334 12q13.13 12q13.13 601078 KRT82, KRTHB2, HB2 Keratin 82 KRT82 3888 ENSG00000161850 Krt82 (MGI:2149248) -chr12 52424069 52434370 12q13 12q13.13 609025 KRT75, K6HF, PFB Keratin 75 KRT75 9119 ENSG00000170454 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3) Krt75 (MGI:1923500) -chr12 52446650 52452145 12q13 12q13.13 148042 KRT6B, PC4 Keratin 6B KRT6B 3854 ENSG00000185479 Pachyonychia congenita 4, 615728 (3), Autosomal dominant Gm5414,Krt6a,Krt6b (MGI:1333768,MGI:3646939,MGI:1100845) -chr12 52468515 52473804 12q13.13 12q13.13 612315 KRT6C, PPKNEFD Keratin 6C KRT6C 286887 ENSG00000170465 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3), Autosomal dominant -chr12 52487175 52493256 12q13 12q13.13 148041 KRT6A, PC3 Keratin 6A KRT6A 3853 ENSG00000205420 Pachyonychia congenita 3, 615726 (3), Autosomal dominant Gm5414,Krt6a,Krt6b (MGI:1333768,MGI:3646939,MGI:1100845) -chr12 52514574 52520393 12q13 12q13.13 148040 KRT5, DDD1 Keratin 5 KRT5 3852 ENSG00000186081 Dowling-Degos disease 1, 179850 (3), Autosomal dominant; Epidermolysis bullosa simplex-MP, 131960 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex-MCR, 609352 (3); Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant Krt5 (MGI:96702) -chr12 52543908 52553144 12q13 12q13.13 608245 KRT71, K6IRS1, KRT6IRS1, HYPT13 Keratin 71 KRT71 112802 ENSG00000139648 mutation identified in 1 HYPT13 family ?Hypotrichosis 13, 615896 (3), Autosomal dominant Krt71 (MGI:1861586) -chr12 52565781 52573842 12q13 12q13.13 608248 KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH Keratin 74 KRT74 121391 ENSG00000170484 mutation identified in 1 HYPT3 family and ECTD7 family Woolly hair, autosomal dominant, 194300 (3), Autosomal dominant; ?Hypotrichosis 3, 613981 (3), Autosomal dominant; ?Ectodermal dysplasia 7, hair/nail type, 614929 (3), Autosomal recessive Krt74 (MGI:3629975) -chr12 52585588 52602899 12q13 12q13.13 608246 KRT72, K6IRS2, KRT6IRS2 Keratin 72 KRT72 140807 ENSG00000170486 Krt72 (MGI:2146034) -chr12 52601812 52620132 12q13 12q13.13 608247 KRT73, K6IRS3, KRT6IRS3 Keratin 73 KRT73 319101 ENSG00000186049 Krt73 (MGI:3607712) -chr12 52644557 52652210 12q11-q13 12q13.13 600194 KRT2, KRT2A, KRT2E Keratin 2 KRT2 3849 ENSG00000172867 Ichthyosis bullosa of Siemens, 146800 (3), Autosomal dominant Krt2 (MGI:96699) -chr12 52674735 52680406 12q13 12q13.13 139350 KRT1, EPPK, NEPPK, EHK Keratin 1 KRT1 3848 ENSG00000167768 close to Hox-3 in mouse; class II keratin Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant; Epidermolytic hyperkeratosis, 113800 (3), Autosomal dominant, Autosomal recessive; Palmoplantar keratoderma, nonepidermolytic, 600962 (3), Autosomal dominant; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 144200 (3), Autosomal dominant; Ichthyosis histrix, Curth-Macklin type, 146590 (3), Autosomal dominant Krt1 (MGI:96698) -chr12 52689611 52703523 12q13.13 12q13.13 611158 KRT77, K1B Keratin 77 KRT77 374454 ENSG00000189182 Krt77 (MGI:3588209) -chr12 52768154 52777344 12q13.13 12q13.13 616671 KRT76, K76, KRT2P Keratin 76, type II KRT76 51350 ENSG00000185069 Krt76 (MGI:1924305) -chr12 52789684 52805734 12q13 12q13.13 148043 KRT3, MECD2 Keratin 3 KRT3 3850 ENSG00000186442 Meesmann corneal dystrophy 2, 618767 (3), Autosomal dominant -chr12 52806548 52814115 12q13 12q13.13 123940 KRT4, CYK4, WSN1 Keratin 4 KRT4 3851 ENSG00000170477 class II keratin White sponge nevus 1, 193900 (3), Autosomal dominant Krt4 (MGI:96701) -chr12 52821407 52834310 12q13.13 12q13.13 611160 KRT79, KRT6L, K6L Keratin 79 KRT79 338785 ENSG00000185640 Krt79 (MGI:2385030) -chr12 52837803 52848993 12q13.13 12q13.13 611159 KRT78, K5B Keratin 78 KRT78 196374 ENSG00000170423 Krt78 (MGI:1917529) -chr12 52897190 52949859 12q13 12q13.13 148060 KRT8 Keratin 8 KRT8 3856 ENSG00000170421 {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive; Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive Krt8 (MGI:96705) -chr12 52948854 52952905 12q13 12q13.13 148070 KRT18 Keratin 18 KRT18 3875 ENSG00000111057 contiguous to KRT8, type II heteromer partner Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive; {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive Krt18 (MGI:96692) -chr12 53006455 53042214 12q13.13 12q13.13 603928 EIF4B Eukaryotic translation initiation factor 4B EIF4B 1975 ENSG00000063046 Eif4b (MGI:95304) -chr12 53046979 53064378 12q13.13 12q13.13 607717 TNS2, TENC1, C1TEN, KIAA1075 Tensin 2 TNS2 23371 ENSG00000111077 Tns2 (MGI:2387586) -chr12 53097666 53102339 Chr.12 12q13.13 146735 IGFBP6 Insulin-like growth factor-binding protein-6 IGFBP6 3489 ENSG00000167779 Igfbp6 (MGI:96441) -chr12 53103485 53124534 12q13 12q13.13 601311 SOAT2, ACACT2 Sterol O-acyltransferase 2 SOAT2 8435 ENSG00000167780 Soat2 (MGI:1332226) -chr12 53157662 53181662 12q13.13 12q13.13 616569 CSAD, CSD, PCAP Cysteine sulfinic acid decarboxylase CSAD 51380 ENSG00000139631 Csad (MGI:2180098) -chr12 53191317 53207374 12q13.13 12q13.13 147559 ITGB7 Integrin, beta-7 ITGB7 3695 ENSG00000139626 Itgb7 (MGI:96616) -chr12 53210568 53232230 12q13 12q13.13 180190 RARG Retinoic acid receptor, gamma polypeptide RARG 5916 ENSG00000172819 Rarg (MGI:97858) -chr12 53268256 53293642 12q13 12q13.13 604143 ESPL1, ESP1 Extra spindle poles-like 1 ESPL1 9700 ENSG00000135476 prev. mapping to chr.8 Espl1 (MGI:2146156) -chr12 53295541 53299449 12q12 12q13.13 604899 PFDN5, MM1 Prefoldin 5 PFDN5 5204 ENSG00000123349 Pfdn5 (MGI:1928753) -chr12 53299694 53307176 12q13 12q13.13 611366 MYG1, C12orf10 MYG1 exonuclease MYG1 60314 ENSG00000139637 Myg1 (MGI:1929864) -chr12 53307455 53321609 12q13 12q13.13 605378 AAAS, AAA Aladin WD repeat nucleoporin AAAS 8086 ENSG00000094914 Achalasia-addisonianism-alacrimia syndrome, 231550 (3), Autosomal recessive Aaas (MGI:2443767) -chr12 53326574 53344792 12q13.13 12q13.13 606633 SP7, OSX, OI12 Transcription factor Sp7 SP7 121340 ENSG00000170374 Osteogenesis imperfecta, type XII, 613849 (3), Autosomal recessive Sp7 (MGI:2153568) -chr12 53380175 53416445 12q13.1 12q13.13 189906 SP1 Sp1 transcription factor SP1 6667 ENSG00000185591 Sp1 (MGI:98372) -chr12 53423854 53431671 12q13 12q13.13 600956 AMHR2, AMHR Anti-Mullerian hormone receptor, type II AMHR2 269 ENSG00000135409 Persistent Mullerian duct syndrome, type II, 261550 (3), Autosomal recessive Amhr2 (MGI:105062) -chr12 53441733 53446637 12q13.13 12q13.13 610459 PRR13, TXR1 Proline-rich protein 13 PRR13 54458 ENSG00000205352 Prr13 (MGI:1913401) -chr12 53452101 53481161 12q13.12-q13.13 12q13.13 601210 PCBP2 Poly(rC)-binding protein-2 PCBP2 5094 ENSG00000197111 Pcbp2 (MGI:108202) -chr12 53479668 53501204 12q13 12q13.13 600447 MAP3K12, ZPK Mitogen-activated protein kinase kinase kinase 12 MAP3K12 7786 ENSG00000139625 Map3k12 (MGI:1346881) -chr12 53500922 53506430 12p12.1-q13.1 12q13.13 605053 TARBP2 TAR RNA-binding protein 2 TARBP2 6895 ENSG00000139546 pseudogene on 8q22-qter Tarbp2 (MGI:103027) -chr12 53506687 53507483 12q13.13 12q13.13 604643 NPFF Neuropeptide FF-amide peptide NPFF 8620 ENSG00000139574 Npff (MGI:1891708) -chr12 53507855 53626381 Chr.12 12q13.13 606371 ATF7 Activating transcription factor 7 ATF7 11016 ENSG00000170653 Atf7 (MGI:2443472) -chr12 53665165 53677545 Chr.12 12q13.13 603193 ATP5G2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C, isoform 2 ATP5MC2 517 ENSG00000135390 Atp5g2,Gm10175 (MGI:1915192,MGI:3704287) -chr12 53938830 53946543 12q13 12q13.13 142976 HOXC13, HOX3G, ECTD9 Homeo box-C13 HOXC13 3229 ENSG00000123364 fused with NUP98 in AML Ectodermal dysplasia 9, hair/nail type, 614931 (3), Autosomal recessive Hoxc13 (MGI:99560) -chr12 53954902 53958955 12q13 12q13.13 142975 HOXC12, HOX3F Homeo box-C12 HOXC12 3228 ENSG00000123407 Hoxc12 (MGI:96194) -chr12 53962307 53974955 12q13.13 12q13.13 611400 HOTAIR Hox transcript antisense RNA HOTAIR 100124700 ENSG00000228630 Hotair (MGI:3826586) -chr12 53973125 53977642 Chr.12 12q13.13 605559 HOXC11 Homeo box-C11 HOXC11 3227 ENSG00000123388 Hoxc11 (MGI:96193) -chr12 53985145 53990278 Chr.12 12q13.13 605560 HOXC10 Homeo box-C10 HOXC10 3226 ENSG00000180818 Hoxc10 (MGI:96192) -chr12 53991737 53991846 12q13 12q13.13 609687 MIR196A2, MIRN196A2 Micro RNA 196A2 MIR196A2 406973 ENSG00000207924 Mir196a-2 (MGI:3618739) -chr12 54000160 54003336 12q13 12q13.13 142971 HOXC9, HOX3B Homeo box-C9 HOXC9 3225 ENSG00000180806 Hoxc9 (MGI:96199) -chr12 54008984 54012768 12q13 12q13.13 142970 HOXC8, HOX3A Homeo box-C8 HOXC8 3224 ENSG00000037965 Hoxc8 (MGI:96198) -chr12 54016887 54056029 12q13 12q13.13 142974 HOXC4, HOX3E Homeo box-C4 HOXC4 3221 ENSG00000198353 Hoxc4 (MGI:96195) -chr12 54016887 54035360 12q13 12q13.13 142973 HOXC5, HOX3D Homeo box-C5 HOXC5 3222 ENSG00000172789 Hoxc5 (MGI:96196) -chr12 54016887 54030822 12q13 12q13.13 142972 HOXC6, HOX3C Homeo box-C6 HOXC6 3223 ENSG00000197757 Hoxc6 (MGI:96197) -chr12 54121273 54188984 12q 12q13.13 607753 SMUG1 Single-strand-selective monofunctional uracil-DNA glycosylase 1 SMUG1 23583 ENSG00000123415 Smug1 (MGI:1918976) -chr12 54230941 54280121 12q13.13 12q13.13 604478 CBX5, HP1 Chromobox 5 CBX5 23468 ENSG00000094916 Cbx5 (MGI:109372) -chr12 54280725 54287086 12q13.1 12q13.13 164017 HNRNPA1, IBMPFD3, ALS20 Heterogeneous nuclear ribonucleoprotein A1 HNRNPA1 3178 ENSG00000135486 mutation identified in 1 family with IBMPFD3 ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3), Autosomal dominant; Amyotrophic lateral sclerosis 20, 615426 (3), Autosomal dominant Hnrnpa1 (MGI:104820) -chr12 54292110 54301014 12q13 12q13.13 601490 NFE2 Nuclear factor, erythroid-derived 2, 45kD NFE2 4778 ENSG00000123405 Nfe2 (MGI:97308) -chr12 54325108 54351849 12q13.13 12q13.13 615472 COPZ1, COPZ Coatomer protein complex, subunit zeta-1 COPZ1 22818 ENSG00000111481 Copz1 (MGI:1929063) -chr12 54337215 54337313 12q13.13 12q13.13 613787 MIR148B, MIRN148B Micro RNA 148B MIR148B 442892 ENSG00000199122 Mir148b (MGI:3618734) -chr12 54362444 54365223 12q13.13 12q13.13 606383 GPR84 G protein-coupled receptor 84 GPR84 53831 ENSG00000139572 Gpr84 (MGI:1934129) -chr12 54369133 54391609 12q13.13 12q13.13 609124 ZNF385A, ZNF385, RZF, HZF Zinc finger protein 385A ZNF385A 25946 ENSG00000161642 Zfp385a (MGI:1352495) -chr12 54395260 54419265 12q11-q13 12q13.13 135620 ITGA5, FNRA, VLA5A Integrin, alpha-5 (fibronectin receptor, alpha subunit; very late activation protein-5, alpha subunit) ITGA5 3678 ENSG00000161638 Itga5 (MGI:96604) -chr12 54455951 54473601 12q13.2 12q13.13 617484 GTSF1, FAM112B Gametocyte-specific factor 1 GTSF1 121355 ENSG00000170627 Gtsf1 (MGI:1921424) -chr12 54497751 54548242 12q13.1 12q13.1-q13.2 141180 NCKAP1L, HEM1, IMD72 NCK associated protein 1-like NCKAP1L 3071 ENSG00000123338 Immunodeficiency 72 with autoinflammation, 618982 (3), Autosomal recessive Nckap1l (MGI:1926063) -chr12 54549600 54579238 12q13 12q13.2 171891 PDE1B1, PDES1B, PDE1B Phosphodiesterase-1B PDE1B 5153 ENSG00000123360 Pde1b (MGI:97523) -chr12 54579245 54588658 12q13.2 12q13.2 613246 PPP1R1A, IPP1, I1 Protein phosphatase 1, regulatory subunit 1A PPP1R1A 5502 ENSG00000135447 Ppp1r1a (MGI:1889595) -chr12 54630810 54634894 12q13 12q13.2 607360 LACRT Lacritin LACRT 90070 ENSG00000135413 -chr12 54644588 54648364 12q13.1 12q13.2 606634 DCD Dermcidin DCD 117159 ENSG00000161634 -chr12 54854515 54858386 12q13.2 12q13.2 610857 MUCL1, SBEM Mucin-like 1 MUCL1 118430 ENSG00000172551 Mucl2 (MGI:98392) -chr12 54948014 54984761 12q13.2 12q13.2 615664 TESPA1, KIAA0748 Thymocyte-expressed positive selection-associated protein 1 TESPA1 9840 ENSG00000135426 Tespa1 (MGI:1914846) -chr12 55019973 55030016 12q13 12q13.2 611635 NEUROD4, MATH3 Neurogenic differentiation 4 NEUROD4 58158 ENSG00000123307 Neurod4 (MGI:108055) -chr12 55684567 55716036 12q13 12q13.2 600536 ITGA7 Integrin, alpha-7 ITGA7 3679 ENSG00000135424 Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3), Autosomal recessive Itga7 (MGI:102700) -chr12 55716045 55719702 12q13-q14 12q13.2 601444 GCN5L1 GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1 BLOC1S1 2647 ENSG00000135441 Bloc1s1 (MGI:1195276) -chr12 55720392 55724704 12q13-q14 12q13.2 601617 RDH5 Retinol dehydrogenase-5 RDH5 5959 ENSG00000135437 Fundus albipunctatus, 136880 (3), Autosomal dominant, Autosomal recessive Rdh5 (MGI:1201412) -chr12 55725322 55729672 12q12-q13 12q13.2 155740 CD63, MLA1 CD63 antigen (melanoma 1 antigen) CD63 967 ENSG00000135404 Cd63 (MGI:99529) -chr12 55743121 55757263 12q13.13 12q13.2 603936 GDF11, BMP11, VHO Growth/differentiation factor 11 GDF11 10220 ENSG00000135414 mutation identified in 1 VHO family ?Vertebral hypersegmentation and orofacial anomalies, 619122 (3), Autosomal dominant Gdf11 (MGI:1338027) -chr12 55752462 55817723 12q13 12q13.2 610049 SARNP, CIP29, HCC1, HSPC316 SAP domain-containing ribonucleoprotein SARNP 84324 ENSG00000205323 fused with MLL in AML Sarnp (MGI:1913368) -chr12 55818040 55821878 12q13.2 12q13.2 610074 ORMDL2 ORM1-like protein 2 ORMDL2 29095 ENSG00000123353 pseudogene on 8q22.1 Ormdl2 (MGI:1914094) -chr12 55820984 55830774 12q13.1-q13.2 12q13.2 606092 DRIP78, HDJ3 Dopamine receptor-interacting protein, 78kD DNAJC14 85406 ENSG00000135392 Dnajc14 (MGI:1921580) -chr12 55835432 55842970 12q14 12q13.2 601807 MMP19, MMP18, CODA Matrix metalloproteinase-19 MMP19 4327 ENSG00000123342 triplication in upstream regulatory region Cavitary optic disc anomalies, 611543 (3), Autosomal dominant Mmp19 (MGI:1927899) -chr12 55931090 55954022 12q13.3 12q13.2 125855 DGKA, DAGK1 Diacylglycerol kinase, alpha, 80kD DGKA 1606 ENSG00000065357 Dgka (MGI:102952) -chr12 55954104 55966708 12q13-q14 12q13.2 155550 SILV, D12S53E, PMEL17 Silver, mouse, homolog of PMEL 6490 ENSG00000185664 Pmel (MGI:98301) -chr12 55966829 55972788 12q13 12q13.2 116953 CDK2 Cyclin-dependent kinase 2 CDK2 1017 ENSG00000123374 Cdk2 (MGI:104772) -chr12 55973948 55996682 12q13 12q13.2 179514 RAB5B Ras-associated protein RAB5B RAB5B 5869 ENSG00000111540 Rab5b (MGI:105938) -chr12 55992546 56005524 Chr.12 12q13.2 606887 SUOX Sulfite oxidase SUOX 6821 ENSG00000139531 Sulfite oxidase deficiency, 272300 (3), Autosomal recessive Suox (MGI:2446117) -chr12 56007503 56038434 12q13 12q13.2 606239 IKZF4, ZNFN1A4, EOS, KIAA1782 Ikaros family zinc finger 4 IKZF4 64375 ENSG00000123411 Ikzf4 (MGI:1343139) -chr12 56041917 56044696 12q 12q13.2 603701 RPS26, DBA10 Ribosomal protein S26 RPS26 6231 ENSG00000197728 Diamond-Blackfan anemia 10, 613309 (3), Autosomal dominant Rps26 (MGI:1351628) -chr12 56080107 56103504 12q13 12q13.2 190151 ERBB3, LCCS2, FERLK, VSCN1 Transformation gene ERBB-3 ERBB3 2065 ENSG00000065361 mutations identified in 1 LCCS2 family and 1 FERLK family ?Lethal congenital contractural syndrome 2, 607598 (3), Autosomal recessive; {?Erythroleukemia, familial, susceptibility to}, 133180 (3), Autosomal dominant; Visceral neuropathy, familial, 1, autosomal recessive, 243180 (3), Autosomal recessive Erbb3 (MGI:95411) -chr12 56104558 56113909 12q13 12q13.2 602145 PA2G4 Proliferation-associated 2G4, 38kD PA2G4 5036 ENSG00000170515 family of genes on 7 chromosomes Pa2g4 (MGI:894684) -chr12 56116632 56117966 12q13.2 12q13.2 613315 RPL41, HG12 Ribosomal protein L41 RPL41 6171 ENSG00000229117 Rpl41 (MGI:1915195) -chr12 56128266 56144673 12q13.2 12q13.2 616670 ESYT1, MBC2, FAM62A Extended synaptotagmin-like protein 1 ESYT1 23344 ENSG00000139641 Esyt1 (MGI:1344426) -chr12 56152586 56157981 12q13.13 12q13.2 609930 MYL6B, MLC1SA Myosin, light chain 6B, alkali, smooth muscle and nonmuscle, slow MYL6B 140465 ENSG00000196465 Myl6b (MGI:1917789) -chr12 56158358 56161578 12q13.2 12q13.2 609931 MYL6 Myosin light chain 6, alkali, smooth muscle and nonmuscle MYL6 4637 ENSG00000092841 Myl6 (MGI:109318) -chr12 56162358 56189503 12q13-q14 12q13.2 601734 SMARCC2, BAF170, CSS8 SW1/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 SMARCC2 6601 ENSG00000139613 Coffin-Siris syndrome 8, 618362 (3), Autosomal dominant Smarcc2 (MGI:1915344) -chr12 56200000 57700000 12q13.3 614375 AAA4 Aortic aneurysm, familial abdominal, 4 100859927 associated with rs1466535 Aortic aneurysm, familial abdominal, 4, 614375 (2) -chr12 56200000 57700000 12q13 613061 BCC4 Basal cell carcinoma, susceptibility to, 4 100307121 associated with rs11170164 {Basal cell carcinoma, susceptibility to, 4}, 613061 (2) -chr12 56200000 57700000 12q13 616182 CMTS Chronic mountain sickness, susceptibility to 105180377 {Chronic mountain sickness, susceptibility to}, 616182 (2) -chr12 56200000 67300000 12q13-q14 607841 DFNA48 Deafness, autosomal dominant 48 Deafness, autosomal dominant 48, 607841 (2), Autosomal dominant -chr12 56200000 92200000 12q13-q21 600808 ENUR2 Enuresis, nocturnal, 2 2032 Enuresis, nocturnal, 2, 600808 (2), Autosomal dominant -chr12 56200000 57700000 12q13 167960 HPV18I2 Human papillomavirus type 18 integration site-2 HPV18I2 3261 on 8 near MYC in HeLa -chr12 56200000 67300000 12q13-q14 604681 PABPL2 Poly(A)-binding protein-like 2 ?pseudogenes on 3q and 13q -chr12 56200000 57700000 12q13 184100 SPDT Spondyloepiphyseal dysplasia tarda, autosomal dominant 103875461 Spondyloepiphyseal dysplasia tarda, autosomal dominant, 184100 (2), Autosomal dominant -chr12 56222011 56229857 12q13.3 12q13.3 612104 OBFC2B, SSB1 Oligonucleotide/oligosaccharide-binding fold-containing protein 2B NABP2 79035 ENSG00000139579 Nabp2 (MGI:1917167) -chr12 56230035 56237849 12q13.3 12q13.3 608730 SLC39A5, MYP24 Solute carrier family 39 (zinc transporter), member 5 SLC39A5 283375 ENSG00000139540 Myopia 24, autosomal dominant, 615946 (3), Autosomal dominant Slc39a5 (MGI:1919336) -chr12 56271698 56300329 12q13.2-q13.3 12q13.3 118950 CS Citrate synthase, mitochondrial CS 1431 ENSG00000062485 Cs,Csl (MGI:88529,MGI:1919082) -chr12 56309843 56316345 12q15 12q13.3 605861 CNPY4, TMEM4, MSAP Canopy 2, zebrafish, homolog of CNPY2 10330 ENSG00000257727 Cnpy2 (MGI:1928477) -chr12 56316935 56333999 12q13.3 12q13.3 617447 PAN2, USP52, KIAA0710 PABP-dependent poly(A) nuclease 2 PAN2 9924 ENSG00000135473 Pan2 (MGI:1918984) -chr12 56334158 56340409 12q13.2 12q13.3 605580 IL23A, SGRF, P19, IL23P19 Interleukin 23, p19 subunit IL23A 51561 ENSG00000110944 Il23a (MGI:1932410) -chr12 56341596 56360160 12q13.2 12q13.3 600556 STAT2, IMD44, PTORCH3 Signal transducer and activator of transcription 2 STAT2 6773 ENSG00000170581 Pseudo-TORCH syndrome 3, 618886 (3), Autosomal recessive; Immunodeficiency 44, 616636 (3), Autosomal recessive Stat2 (MGI:103039) -chr12 56360567 56362856 12q13.3 12q13.3 107760 APOF, LTIP Apolipoprotein F APOF 319 ENSG00000175336 Apof (MGI:104539) -chr12 56416362 56449425 12q12-q13 12q13.3 603887 TIMELESS, TIM, TIM1 Timeless circadian regulator TIMELESS 8914 ENSG00000111602 Timeless (MGI:1321393) -chr12 56449501 56456552 12q13 12q13.3 154050 MIP, AQP0, CTRCT15 Major intrinsic protein of lens fiber MIP 4284 ENSG00000135517 slightly distal to AQP2 Cataract 15, multiple types, 615274 (3), Autosomal dominant Mip (MGI:96990) -chr12 56470951 56488160 12q13 12q13.3 606365 GLS2, GA Glutaminase, liver GLS2 27165 ENSG00000135423 Gls2 (MGI:2143539) -chr12 56520405 56596192 12q13.3 12q13.3 602387 RBMS2, SCR3 RNA-binding motif protein, single strand interacting, 2 RBMS2 5939 ENSG00000076067 Rbms2 (MGI:1861776) -chr12 56595595 56636815 12q24.3-qter 12q13.3 605682 BAZ2A Bromodomain adjacent to zinc finger domain, 2A BAZ2A 11176 ENSG00000076108 Baz2a (MGI:2151152) -chr12 56638174 56645983 12p13-qter 12q13.3 102910 ATP5B, ATPSB ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide ATP5F1B 506 ENSG00000110955 Atp5b (MGI:107801) -chr12 56663348 56689574 12q13.3 12q13.3 607061 PTGES3, P23, CPGES Prostaglandin E synthase 3 PTGES3 10728 ENSG00000110958 Ptges3,Ptges3-ps (MGI:1929282,MGI:3704271) -chr12 56712426 56725298 12q23-q24.1 12q13.3 601234 NACA Nascent-polypeptide-associated complex alpha polypeptide NACA 4666 ENSG00000196531 Naca (MGI:106095) -chr12 56731579 56752322 12q13 12q13.3 176635 PRIM1 Primase, polypeptide-1, 49kD PRIM1 5557 ENSG00000198056 Prim1 (MGI:97757) -chr12 56752448 56787789 12q13 12q13.3 606623 HSE 3-alpha-hydroxysteroid epimerase HSD17B6 8630 ENSG00000025423 Hsd17b6 (MGI:1351670) -chr12 56923132 56934407 12q13.3 12q13.3 609769 SDR9C7, SDRO, ARCI13 Short chain dehydrogenase/reductase family 9C member 7 SDR9C7 121214 ENSG00000170426 Ichthyosis, congenital, autosomal recessive 13, 617574 (3), Autosomal recessive Sdr9c7 (MGI:1917311) -chr12 56993589 56998446 12q13.3 12q13.3 605307 ADMR, AMR Adrenomedullin receptor GPR182 11318 ENSG00000166856 Gpr182 (MGI:109545) -chr12 56998835 57006545 12q13.3 12q13.3 619384 ZBTB39, ZNF922, KIAA0352 Zinc finger- and BTB domain-containing protein 39 ZBTB39 9880 ENSG00000166860 Zbtb39 (MGI:2443316) -chr12 57009999 57016528 12q13-q21 12q13.3 162330 TAC3, NKNB, HH10 Tachykinin 3 (neuromedin K, neurokinin B) TAC3 6866 ENSG00000166863 Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3), Autosomal recessive Tac2 (MGI:98476) -chr12 57028516 57051197 12q13-q15 12q13.3 601478 MYO1A Myosin IA MYO1A 4640 ENSG00000166866 Myo1a (MGI:107732) -chr12 57055642 57088702 12q13.3 12q13.3 616496 NEMP1, TMEM194A Nuclear envelope integral membrane protein 1 NEMP1 23306 ENSG00000166881 Nemp1 (MGI:2446113) -chr12 57089113 57095475 12q13.3-q14.1 12q13.3 602381 NAB2 NGFIA-binding protein-2 NAB2 4665 ENSG00000166886 Nab2 (MGI:107563) -chr12 57095407 57111412 12q13 12q13.3 601512 STAT6 Signal transducer and activator of transcription-6, interleukin-4 induced STAT6 6778 ENSG00000166888 Stat6 (MGI:103034) -chr12 57128400 57213376 12q13.1-q13.3 12q13.3 107770 LRP1, A2MR, KPA Low density lipoprotein-related protein-1 (alpha-2-macroglobulin receptor) LRP1 4035 ENSG00000123384 mutation identified in 1 KPA family ?Keratosis pilaris atrophicans, 604093 (3), Autosomal recessive Lrp1 (MGI:96828) -chr12 57216793 57226448 12q13.3 12q13.3 604637 NXPH4, NPH4 Neuroexophilin 4 NXPH4 11247 ENSG00000182379 Nxph4 (MGI:1336197) -chr12 57229684 57234934 12q13 12q13.3 138450 SHMT2, GLYA, NEDCASB Serine hydroxymethyltransferase SHMT2 6472 ENSG00000182199 glycine A auxotroph Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, 619121 (3), Autosomal recessive Shmt2 (MGI:1277989) -chr12 57243452 57251187 12q13.3 12q13.3 615521 STAC3, NAM, MYPBB SH3 and cystein-rich domains 3 STAC3 246329 ENSG00000185482 Myopathy, congenital, Baily-Bloch, 255995 (3), Autosomal recessive Stac3 (MGI:3606571) -chr12 57434783 57452061 12q13.1 12q13.3 601233 INHBC Inhibin, beta C INHBC 3626 ENSG00000175189 Inhbc (MGI:105932) -chr12 57455306 57458024 12q13.3 12q13.3 612031 INHBE Inhibin, beta E INHBE 83729 ENSG00000139269 Inhbe (MGI:109269) -chr12 57459784 57472450 12q13.2-q13.3 12q13.3 165220 GLI1, PAPA8, PPD1 GLI family zinc finger 1 GLI1 2735 ENSG00000111087 mutation identified in 1 PPD1 family Polydactyly, preaxial I, 174400 (3), Autosomal recessive; Polydactyly, postaxial, type A8, 618123 (3), Autosomal recessive Gli1 (MGI:95727) -chr12 57472261 57488823 12q14 12q13.3 610576 ARHGAP9 Rho GTPase-activating protein 9 ARHGAP9 64333 ENSG00000123329 Arhgap9 (MGI:2143764) -chr12 57488067 57516654 12q13.3 12q13.3 156560 MARS1, MARS, MTRNS, METRS, ILLD, CMT2U Methioninyl-tRNA synthetase 1 MARS1 4141 ENSG00000166986 Interstitial lung and liver disease, 615486 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3), Autosomal dominant Mars1 (MGI:1345633) -chr12 57516587 57520516 12q13.1-q13.2 12q13.3 126337 DDIT3, GADD153, CHOP10 DNA-damage-inducible transcript-3 DDIT3 1649 ENSG00000175197 fused with FUS in myxoid liposarcoma Ddit3 (MGI:109247) -chr12 57519162 57519258 12q13.3 12q13.3 614489 MIR616 Micro RNA 616 MIR616 693201 ENSG00000208028 -chr12 57520709 57530147 12q13.3 12q13.3 619458 MBD6, KIAA1887 Methyl-CpG-binding domain protein 6 MBD6 114785 ENSG00000166987 Mbd6 (MGI:106378) -chr12 57530050 57547215 12q13.3 12q13.3 607376 DCTN2, DCTN50 Dynactin 2 DCTN2 10540 ENSG00000175203 Dctn2 (MGI:107733) -chr12 57550038 57586632 12q13 12q13.3 602821 KIF5A, NKHC, SPG10, NEIMY, ALS25 Kinesin family member 5A KIF5A 3798 ENSG00000155980 Myoclonus, intractable, neonatal, 617235 (3), Autosomal dominant; {Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3), Autosomal dominant; Spastic paraplegia 10, autosomal dominant, 604187 (3), Autosomal dominant Kif5a (MGI:109564) -chr12 57591187 57603417 12q13.3 12q13.3 617104 PIP4K2C, PIP5K2C Phosphatidylinositol 5-phosphate 4-kinase, type II, gamma PIP4K2C 79837 ENSG00000166908 Pip4k2c (MGI:2152214) -chr12 57604326 57609801 12q13.3 12q13.3 613142 DTX3 Deltex E3 ubiquitin ligase 3 DTX3 196403 ENSG00000178498 Dtx3 (MGI:2135752) -chr12 57610115 57617244 12q13.11 12q13.3 610215 ARHGEF25, GEFT Rho guanine nucleotide exchange factor 25 ARHGEF25 115557 ENSG00000240771 Arhgef25 (MGI:1277173) -chr12 57623408 57633200 12q13.3 12q13.3 601873 B4GALNT1, GALGT, GALNACT, SPG26 Beta-1,4-N-acetylgalactosaminyltransferase 1 B4GALNT1 2583 ENSG00000135454 Spastic paraplegia 26, autosomal recessive, 609195 (3), Autosomal recessive B4galnt1 (MGI:1342057) -chr12 57694131 57721556 12q13 12q13.3-q14.1 609677 OS9 OS9 endoplasmic reticulum lectin OS9 10956 ENSG00000135506 Os9 (MGI:1924301) -chr12 57723760 57742200 12q14.1 12q14.1 605476 AGAP2, CENTG1, PIKE ARF-GAP with GTP-binding protein-like, ankyrin repeat, and pleckstrin homology domains 2 AGAP2 116986 ENSG00000135439 Agap2 (MGI:3580016) -chr12 57745038 57750218 12q13-q14 12q14.1 181035 TSPAN31, SAS Tetraspanin 31 TSPAN31 6302 ENSG00000135452 Tspan31 (MGI:1914375) -chr12 57747726 57752309 12q14 12q14.1 123829 CDK4, CMM3 Cyclin-dependent kinase 4 CDK4 1019 ENSG00000135446 {Melanoma, cutaneous malignant, 3}, 609048 (3), Autosomal dominant Cdk4 (MGI:88357) -chr12 57755102 57760410 12q14.1 12q14.1 613336 MARCH9 Membrane-associated RING-CH finger protein 9 MARCHF9 92979 ENSG00000139266 Marchf9 (MGI:2446144) -chr12 57762333 57767077 12q13.1-q13.3 12q14.1 609506 CYP27B1, VDD1, PDDR Cytochrome P450, subfamily XXVIIB, polypeptide 1 CYP27B1 1594 ENSG00000111012 Vitamin D-dependent rickets, type I, 264700 (3), Autosomal recessive Cyp27b1 (MGI:1098274) -chr12 57768470 57772104 12q13 12q14.1 604466 METTL1 Methyltransferase-like 1 METTL1 4234 ENSG00000037897 Mettl1 (MGI:1339986) -chr12 57772613 57782540 12q14.1 12q14.1 615258 EEF1AKMT3, METTL21B, FAM119B EEF1A lysine methyltransferase 3 EEF1AKMT3 25895 ENSG00000123427 Eef1akmt3 (MGI:3645330) -chr12 57782786 57802855 12q13-q14 12q14.1 604723 TSFM, COXPD3 Ts translation elongation factor, mitochondrial TSFM 10102 ENSG00000123297 Combined oxidative phosphorylation deficiency 3, 610505 (3), Autosomal recessive Tsfm (MGI:1913649) -chr12 57797375 57818733 12q14 12q14.1 613397 AVIL, NPHS21 Advillin AVIL 10677 ENSG00000135407 Nephrotic syndrome, type 21, 618594 (3), Autosomal recessive Avil (MGI:1333798) -chr12 57816701 57846728 12q14.1 12q14.1 608711 CTDSP2, SCP2, OS4 CTD small phosphatase 2 CTDSP2 10106 ENSG00000175215 Ctdsp2 (MGI:1098748) -chr12 57824608 57824691 12q14.1 12q14.1 613057 MIR26A2, MIRN26A2 Micro RNA 26A2 MIR26A2 407016 ENSG00000207789 Mir26a-2 (MGI:3619045) -chr12 58872154 58920518 12q13.2 12q14.1 608870 LIRG3, LIG3 Leucine-rich repeats- and immunoglobulin-like domains-containing protein 3 LRIG3 121227 ENSG00000139263 Lrig3 (MGI:2443955) -chr12 59595933 59789840 12q13 12q14.1 603654 SLC16A7, MCT2 Solute carrier family 16 (monocarboxylic acid transporters), member 7 SLC16A7 9194 ENSG00000118596 Slc16a7 (MGI:1330284) -chr12 61708272 62260103 12q14.1 12q14.1 617496 FAM19A2, TAFA2 Family with sequence similarity 19, member A2, CC motif chemokine-like TAFA2 338811 ENSG00000198673 Tafa2 (MGI:2143691) -chr12 62260403 62416388 12q14.1 12q14.1 604731 USP15 Ubiquitin-specific protease 15 USP15 9958 ENSG00000135655 Usp15 (MGI:101857) -chr12 62466816 62600475 12q14.1 12q14.1 616822 MON2, KIAA1040 Mon2, S. cerevisiae, homolog of MON2 23041 ENSG00000061987 Mon2 (MGI:1914324) -chr12 62603685 62603768 12q14.1 12q14.1 612148 MIRLET7I, LET7I, MIRNLET7I Micro RNA Let7i MIRLET7I 406891 ENSG00000199179 Mirlet7i (MGI:2676802) -chr12 62643991 62935149 12q14.1-q14.2 12q14.1-q14.2 616016 PPM1H, KIAA1157 Protein phosphatase, magnesium/manganese-dependent, 1H PPM1H 57460 ENSG00000111110 Ppm1h (MGI:2442087) -chr12 62700000 64700000 12q14.2 610908 AUTS13 Autism, susceptibility to, 13 100188317 linkage with rs1445442 {Autism susceptibility 13}, 610908 (2) -chr12 63142758 63151200 12q14-q15 12q14.2 600821 AVPR1A Arginine vasopressin receptor-1A AVPR1A 552 ENSG00000166148 Avpr1a (MGI:1859216) -chr12 63558912 63669200 12q14.2 12q14.2 613893 DPY19L2, SPGF9 DPY19-like 2 DPY19L2 283417 ENSG00000177990 pseudogene on 7p14.3 Spermatogenic failure 9, 613958 (3), Autosomal recessive Dpy19l2 (MGI:2444662) -chr12 63779830 63809561 12q14.2 12q14.2 605862 RXYLT1, TMEM5, MDDGA10 Ribitol xylosyltransferase 1 RXYLT1 10329 ENSG00000118600 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3), Autosomal recessive Rxylt1 (MGI:2384919) -chr12 63843910 64162216 12q14.2 12q14.2 606523 SRGAP1, KIAA1304, NMTC2 Slit-robo GTPase-activating protein, rho, 1 SRGAP1 57522 ENSG00000196935 {Thyroid cancer, nonmedullary, 2}, 188470 (3), Somatic mutation, Autosomal dominant Srgap1 (MGI:2152936) -chr12 64186315 64222295 12q14.2 12q14.2 617420 KICS2, C12orf66 KICSTOR subunit 2 KICS2 144577 ENSG00000174206 Kics2 (MGI:2670984) -chr12 64404391 64451124 12q14.2 12q14.2 603180 XPOT Exportin, tRNA XPOT 11260 ENSG00000184575 Xpot (MGI:1920442) -chr12 64452104 64502113 12q14.2 12q14.2 604834 TBK1, NAK, FTDALS4, IIAE8 TANK-binding kinase 1 TBK1 29110 ENSG00000183735 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3), Autosomal dominant; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3), Autosomal dominant Tbk1 (MGI:1929658) -chr12 64610494 64697566 12q14.1 12q14.2 607019 RASSF3 Ras association domain family protein 3 RASSF3 283349 ENSG00000153179 Rassf3 (MGI:2179722) -chr12 64700000 67300000 12q14 177700 GLC1P Glaucoma 1, open angle, P caused by 300kb duplication Glaucoma 1, open angle, P, 177700 (4), Autosomal dominant -chr12 64700000 67300000 12q14 614354 PRO2268 PRO2268 gene 55390 -chr12 64700000 67300000 12q14.3 611547 STQTL9 Stature quantitative trait locus 9 associated with rs1042725 {Stature QTL 9}, 611547 (2) -chr12 64713448 64759405 12q14 12q14.3 607664 GNS, G6S N-acetylglucosamine-6-sulfatase GNS 2799 ENSG00000135677 Mucopolysaccharidosis type IIID, 252940 (3), Autosomal recessive Gns (MGI:1922862) -chr12 64759483 64881032 12q14.3 12q14.3 615077 TBC1D30, KIAA0984 TBC1 domain family, member 30 TBC1D30 23329 ENSG00000111490 Tbc1d30 (MGI:1921944) -chr12 65050625 65121304 Chr.12 12q14.3 605186 WIF1 WNT inhibitory factor 1 WIF1 11197 ENSG00000156076 Wif1 (MGI:1344332) -chr12 65169582 65248354 12q14 12q14.3 607844 LEMD3, MAN1 LEM domain-containing 3 LEMD3 23592 ENSG00000174106 Buschke-Ollendorff syndrome, 166700 (3), Autosomal dominant; Osteopoikilosis with or without melorheostosis, 166700 (3), Autosomal dominant Lemd3 (MGI:3580376) -chr12 65278592 65466906 12q14.3 12q14.3 613719 MSRB3, DFNB74 Methionine sulfoxide reductase B3 MSRB3 253827 ENSG00000174099 Deafness, autosomal recessive 74, 613718 (3), Autosomal recessive Msrb3 (MGI:2443538) -chr12 65824459 65966290 12q14.3 12q14.3 600698 HMGA2, HMGIC, BABL, SRS5 High-mobility group AT-hook 2 HMGA2 8091 ENSG00000149948 fusion partners with RAD51B, ALDH2, COX6C, HEI10 in uterine leiomyomas Silver-Russell syndrome 5, 618908 (3), Autosomal dominant Hmga2 (MGI:101761) -chr12 66116554 66130749 12q14.3 12q14.3 616998 LLPH LLP, Aplysia, homolog of LLPH 84298 ENSG00000139233 Llph (MGI:1913475) -chr12 66135845 66169995 12q14.3 12q14.3 616874 TMBIM4, GAAP Transmembrane BAX inhibitor motif-containing protein 4 TMBIM4 51643 ENSG00000155957 Tmbim4 (MGI:1915462) -chr12 66189213 66254621 12q14.3 12q14.3 604459 IRAK3, IRAKM, ASRT5 Interleukin 1 receptor-associated kinase 3 IRAK3 11213 ENSG00000090376 {Asthma susceptibility 5}, 611064 (3) Irak3 (MGI:1921164) -chr12 66302492 66343642 12q13 12q14.3 614539 HELB, HDHB Helicase, DNA, B HELB 92797 ENSG00000127311 Helb (MGI:2152895) -chr12 66347430 67069337 12q14.3 12q14.3 604597 GRIP1, FRASRS3 Glutamate receptor-interacting protein 1 GRIP1 23426 ENSG00000155974 Fraser syndrome 3, 617667 (3), Autosomal recessive Grip1 (MGI:1921303) -chr12 67269357 67319952 12q14.3-q15 12q14-q15 607727 CAND1, TIP120A, TIP120, KIAA0829 Cullin-associated neddylation-dissociated protein 1 CAND1 55832 ENSG00000111530 Cand1 (MGI:1261820) -chr12 67300000 71100000 12q15 612639 IBD26 Inflammatory bowel disease 26 100271838 associated with rs1558744 {Inflammatory bowel disease 26}, 612639 (2) -chr12 67648744 67665405 12q14 12q15 603496 DYRK2 Dual-specificity tyrosine phosphorylation-regulated kinase 2 DYRK2 8445 ENSG00000127334 Dyrk2 (MGI:1330301) -chr12 68154767 68159739 12q14 12q15 147570 IFNG, IFG, IFI, IMD69 Interferon, gamma IFNG 3458 ENSG00000111537 mutation identified in 1 IMD69 family {Hepatitis C virus, response to therapy of}, 609532 (3); {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3), Autosomal dominant; {Aplastic anemia}, 609135 (3); ?Immunodeficiency 69, mycobacteriosis, 618963 (3), Autosomal recessive; {Tuberculosis, protection against}, 607948 (3); {AIDS, rapid progression to}, 609423 (3) Ifng (MGI:107656) -chr12 68201348 68225809 12q15 12q15 605679 IL26, AK155 Interleukin 26 IL26 55801 ENSG00000111536 -chr12 68248241 68253603 12q15 12q15 605330 IL22, IL21, ILTIF Interleukin 22 IL22 50616 ENSG00000127318 Il22,Il22b (MGI:1355307,MGI:2151139) -chr12 68294565 68332361 12q15 12q15 613813 MDM1 MDM1 nuclear protein MDM1 56890 ENSG00000111554 Mdm1 (MGI:96951) -chr12 68610898 68671900 12q14 12q15 179530 RAP1B RAS-related protein RAP1B RAP1B 5908 ENSG00000127314 Rap1b (MGI:894315) -chr12 68686970 68745808 12q15 12q15 607617 NUP107, NUP84, NPHS11, ODG6; GAMOS7 Nucleoporin, 107kD NUP107 57122 ENSG00000111581 mutation identified in 1 ODG6 family ?Ovarian dysgenesis 6, 618078 (3), Autosomal recessive; Galloway-Mowat syndrome 7, 618348 (3), Autosomal recessive; Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive Nup107 (MGI:2143854) -chr12 68808148 68850685 12q14.3-q15 12q15 164785 MDM2, ACTFS, LSKB MDM2 protooncogene MDM2 4193 ENSG00000135679 mutation identified in 1 LSKB patient {Accelerated tumor formation, susceptibility to}, 614401 (3), Autosomal dominant; ?Lessel-Kubisch syndrome, 618681 (3), Autosomal recessive Mdm2 (MGI:96952) -chr12 68842192 68963468 12q15 12q15 114860 CPM Carboxypeptidase M CPM 1368 ENSG00000135678 Cpm (MGI:1917824) -chr12 69239567 69274357 Chr.12 12q15 604979 CPSF6, CFIM Cleavage and polyadenylation specific factor 6, 68kD subunit CPSF6 11052 ENSG00000111605 Cpsf6 (MGI:1913948) -chr12 69348380 69354233 12q15 12q15 153450 LYZ Lysozyme LYZ 4069 ENSG00000090382 Amyloidosis, renal, 105200 (3), Autosomal dominant Lyz1,9530003J23Rik,Lyz2 (MGI:96902,MGI:1924647,MGI:96897) -chr12 69359704 69427076 12q13-q15 12q15 602116 YEATS4, GAS41 YEATS domain-containing protein 4 YEATS4 8089 ENSG00000127337 Yeats4 (MGI:1927224) -chr12 69470370 69579792 12q15 12q15 607743 FRS2, FRS1A, SNT1 Fibroblast growth factor receptor substrate 2 FRS2 10818 ENSG00000166225 Frs2 (MGI:1100860) -chr12 69585458 69601569 Chr.12 12q15 605139 CCT2, CCTB Chaperonin containing T-complex polypeptide 1, subunit 2 CCT2 10576 ENSG00000166226 Cct2 (MGI:107186) -chr12 69608563 69610906 12q15 12q15 610846 LRRC10, HRLRRP Leucine-rich repeat-containing protein 10 LRRC10 376132 ENSG00000198812 Lrrc10 (MGI:2448063) -chr12 69643507 69699302 12q14.2-q15 12q15 607337 BEST3, VMD2L3 Bestrophin 3 BEST3 144453 ENSG00000127325 Best3 (MGI:3580298) -chr12 70222189 70243359 12q15 12q15 619085 PRANCR, LINC01481 Progenitor renewal-associated noncoding RNA PRANCR 101928062 ENSG00000257815 -chr12 70242992 70354992 12q15 12q15 604909 CNOT2, NOT2, IDNADFS CCR4-NOT transcription complex, subunit 2 CNOT2 4848 ENSG00000111596 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3), Autosomal dominant Cnot2 (MGI:1919318) -chr12 70366219 70434291 12q14.1-q15 12q15 605223 KCNMB4 Potassium large conductance calcium-activated channel, subfamily M, beta member 4 KCNMB4 27345 ENSG00000135643 Kcnmb4 (MGI:1913272) -chr12 70515869 70637439 12q15-q21 12q15 176882 PTPRB Protein tyrosine phosphatase, receptor type, beta polypeptide PTPRB 5787 ENSG00000127329 Ptprb (MGI:97809) -chr12 70638072 70920737 12q15 12q15 602853 PTPRR, PCPTP1 Protein-tyrosine phosphatase, receptor type, R PTPRR 5801 ENSG00000153233 Ptprr (MGI:109559) -chr12 71125092 71157998 12q14.1-q21.1 12q21.1 600769 TSPAN8, TM4SF3 Tetraspanin 8 TSPAN8 7103 ENSG00000127324 Tspan8 (MGI:2384918) -chr12 71439797 71586309 12q21.1 12q21.1 606667 LGR5, GPR49 Leucine-rich repeat-containing G protein-coupled receptor 5 LGR5 8549 ENSG00000139292 Lgr5 (MGI:1341817) -chr12 71664300 71680643 12q21.1 12q21.1 612531 THAP2 THAP domain-containing protein 2 THAP2 83591 ENSG00000173451 Thap2 (MGI:1914066) -chr12 71754862 71800285 12q21.1 12q21.1 612398 RAB21, KIAA0118 RAB-associated protein RAB21 RAB21 23011 ENSG00000080371 Rab21 (MGI:894308) -chr12 71839758 71924312 12q21.1 12q21.1 612662 TBC1D15 TBC1 domain family, member 15 TBC1D15 64786 ENSG00000121749 Tbc1d15 (MGI:1913937) -chr12 71938844 72032439 12q21.1 12q21.1 607478 TPH2, NTPH, ADHD7 Tryptophan hydroxylase 2 TPH2 121278 ENSG00000139287 {Unipolar depression, susceptibility to}, 608516 (3); {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3) Tph2 (MGI:2651811) -chr12 72087287 72670757 12q15-q21 12q21.1 606950 TRHDE Thyrotropin-releasing hormone-degrading ectoenzyme TRHDE 29953 ENSG00000072657 Trhde (MGI:2384311) -chr12 74537834 74545429 12q21 12q21.1 615579 ATXN7L3B Ataxin 7-like 3B ATXN7L3B 552889 ENSG00000253719 Atxn7l3b (MGI:1914971) -chr12 75040077 75209838 12q21.1 12q21.1 176256 KCNC2 Potassium voltage-gated channel, Shaw-related subfamily, member 2 KCNC2 3747 ENSG00000166006 previously on 19q13.3-q13.4 Kcnc2 (MGI:96668) -chr12 75275978 75390913 12q15 12q21.1-q21.2 607724 CAPS2 Calcyphosine 2 CAPS2 84698 ENSG00000180881 Caps2 (MGI:2441980) -chr12 75331833 75370559 12q21 12q21.2 610395 GLIPR1L1 GLIPR1-like protein 1 GLIPR1L1 256710 ENSG00000173401 Glipr1l1 (MGI:1916536) -chr12 75391088 75432687 12q21 12q21.2 610394 GLIPR1L2 GLIPR1-like protein 2 GLIPR1L2 144321 ENSG00000180481 Glipr1l2 (MGI:1914787) -chr12 75480753 75503862 12q21 12q21.2 602692 GLIPR1, GLIPR, RTVP1 Glioma pathogenesis-related protein 1 GLIPR1 11010 ENSG00000139278 Glipr1 (MGI:1920940) -chr12 75490862 75511608 12q21.2 12q21.2 612817 KRR1 KRR1 small subunitprocessome component homolog KRR1 11103 ENSG00000111615 Krr1 (MGI:1289274) -chr12 76025446 76031775 12q15-q21.2 12q21.2 605335 PHLDA1, TDAG51 Pleckstrin homology-like domain, family A, member 1 PHLDA1 22822 ENSG00000139289 Phlda1 (MGI:1096880) -chr12 76036584 76084686 12q21.2 12q21.2 164060 NAP1L1, NAP1L Nucleosome assembly protein 1-like 1 NAP1L1 4673 ENSG00000187109 Nap1l1 (MGI:1855693) -chr12 76344473 76348414 12q21.2 12q21.2 610148 BBS10, C12orf58, FLJ23560 BBS10 gene BBS10 79738 ENSG00000179941 Bardet-Biedl syndrome 10, 615987 (3), Autosomal recessive Bbs10 (MGI:1919019) -chr12 76351796 76559804 12p 12q21.2 606736 OSBPL8, ORP8, KIAA1451 Oxysterol-binding protein-like protein 8 OSBPL8 114882 ENSG00000091039 Osbpl8 (MGI:2443807) -chr12 76764114 76853700 12q14-q15 12q21.2 607799 ZDHHC17, HIP14 Zinc finger DHHC domain-containing protein 17 ZDHHC17 23390 ENSG00000186908 Zdhhc17 (MGI:2445110) -chr12 76858708 76879018 12q21.1 12q21.2 601871 CSRP2, LMO5 Cysteine and glycine-rich protein-2 (LIM domain only 5, smooth muscle) CSRP2 1466 ENSG00000175183 pseudogene on 3q21.1 Csrp2 (MGI:1202907) -chr12 77021250 77065579 12q21.3 12q21.2 612046 E2F7 E2F transcription factor 7 E2F7 144455 ENSG00000165891 E2f7 (MGI:1289147) -chr12 77571855 78213009 12q21.1 12q21.2 611629 NAV3, POMFIl1, KIAA0938 Neuron navigator 3 NAV3 89795 ENSG00000067798 Nav3 (MGI:2183703) -chr12 78863981 79452007 12cen-q21 12q21.2 185605 SYT1, BAGOS Synaptotagmin-1 SYT1 6857 ENSG00000067715 Baker-Gordon syndrome, 618218 (3), Autosomal dominant Syt1 (MGI:99667) -chr12 79584878 79691096 12q21 12q21.2 601936 PAWR, PAR4 PRKC, apoptosis, WT1, regulator PAWR 5074 ENSG00000177425 Pawr (MGI:2149961) -chr12 79773562 79935459 12q15-q21.2 12q-q 602021 PPP1R12A, MYPT1, GUBS Protein phosphatase 1, regulatory subunit 12A (myosin phosphatase target subunit 1) PPP1R12A 4659 ENSG00000058272 Genitourinary and/or/brain malformation syndrome, 618820 (3), Autosomal dominant Ppp1r12a (MGI:1309528) -chr12 80099536 80380879 12q21.31 12q21.31 614925 OTOGL, C12orf64, DFNB84B Otogelin-like protein OTOGL 283310 ENSG00000165899 Deafness, autosomal recessive 84B, 614944 (3), Autosomal recessive Otogl (MGI:3647600) -chr12 80424260 80680272 12q21.2 12q21.31 603317 PTPRQ, PTPGMC1, DFNB84A, DFNA73 Protein-tyrosine phosphatase, receptor-type, Q PTPRQ 374462 ENSG00000139304 mutation identified in 1 DFNA73 family Deafness, autosomal dominant 73, 617663 (3), Autosomal dominant; Deafness, autosomal recessive 84A, 613391 (3), Autosomal recessive Ptprq (MGI:1096349) -chr12 80707633 80709473 12q21 12q21.31 159991 MYF6, CNM3 Myogenic factor-6 MYF6 4618 ENSG00000111046 Myf6 (MGI:97253) -chr12 80716911 80719670 12q21 12q21.31 159990 MYF5, EORVA Myogenic factor-5 MYF5 4617 ENSG00000111049 Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3), Autosomal recessive Myf5 (MGI:97252) -chr12 80792519 80937933 12q21.31 12q21.31 603380 LIN7A, VELI1, MALS1 Lin7, C. elegans, homolog of, A LIN7A 8825 ENSG00000111052 Lin7a (MGI:2135609) -chr12 81078036 81261209 12q21.31 12q21.31 614356 ACSS3 Acyl-CoA synthetase short-chain family, member 3 ACSS3 79611 ENSG00000111058 Acss3 (MGI:2685720) -chr12 81257974 81759748 12q21.31 12q21.31 603143 PPFIA2 Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting protein alpha 2 PPFIA2 8499 ENSG00000139220 Ppfia2 (MGI:2443834) -chr12 82352302 82358804 12q21.31 12q21.31 619280 CCDC59, BR22, TAP26 Coiled-coil domain-containing protein 59 CCDC59 29080 ENSG00000133773 Ccdc59 (MGI:1289302) -chr12 82686905 83134867 12q21.31 12q21.31 615856 TMTC2 Transmembrane and tetratricopeptide repeat domains-containing protein 2 TMTC2 160335 ENSG00000179104 Tmtc2 (MGI:1914057) -chr12 84859490 84912802 12q21.3-q21.4 12q21.31 607971 SLC6A15, SBAT1 Solute carrier family 6 (neurotransmitter transporter), member 15 SLC6A15 55117 ENSG00000072041 Slc6a15 (MGI:2143484) -chr12 85280219 85301783 12q21.3-q22 12q21.31 601527 ALX1, CART1, FND3 Aristaless-like homeobox 1 (cartilage homeoprotein 1) ALX1 8092 ENSG00000180318 Frontonasal dysplasia 3, 613456 (3), Autosomal recessive Alx1 (MGI:104621) -chr12 85800702 85836408 12q21.31 12q21.31 610383 RASSF9, PAMCI, PCIP1 Ras association domain family, member 9 RASSF9 9182 ENSG00000198774 Rassf9 (MGI:2384307) -chr12 85874294 85882991 12q21 12q21.31 162650 NTS Neurotensin NTS 4922 ENSG00000133636 Nts (MGI:1328351) -chr12 85955666 86838999 12q21 12q21.31-q21.32 607385 GNTIVH UDP-N-acetylglucosamine:alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV MGAT4C 25834 ENSG00000182050 Mgat4c (MGI:1914819) -chr12 88049012 88142215 12q21.3 12q21.32 610142 CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14 Centrosomal protein, 290kD CEP290 80184 ENSG00000198707 mutation identified in 1 BBS14 family Leber congenital amaurosis 10, 611755 (3); Joubert syndrome 5, 610188 (3), Autosomal recessive; Senior-Loken syndrome 6, 610189 (3), Autosomal recessive; ?Bardet-Biedl syndrome 14, 615991 (3), Autosomal recessive; Meckel syndrome 4, 611134 (3), Autosomal recessive Cep290 (MGI:2384917) -chr12 88142306 88199886 12q21.32 12q21.32 617218 TMTC3, SMILE, LIS8 Transmembrane and tetratricopeptide repeat domains-containing protein 3 TMTC3 160418 ENSG00000139324 Lissencephaly 8, 617255 (3), Autosomal recessive Tmtc3 (MGI:3036255) -chr12 88492792 88580470 12q22 12q21.32 184745 KITLG, MGF, SF, SCF, SHEP7, FPHH, DCUA, DFNA69 KIT ligand (mast cell growth factor; steel, mouse, homolog of) KITLG 4254 ENSG00000049130 associated with dbSNP rs12821256 Hyperpigmentation with or without hypopigmentation, 145250 (3), Autosomal dominant; Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 (3), Autosomal dominant; [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3) Kitl (MGI:96974) -chr12 88600000 92200000 12q21.33 121400 CNA1 Cornea plana 1, autosomal dominant 1255 between D12S82 and D12S351 Cornea plana 1, autosomal dominant, 121400 (2), Autosomal dominant -chr12 88600000 108600000 12q21-q23 612715 DUH2 Dyschromatosis universalis hereditaria 2 100301525 between rs1921045 and rs2373584 Dyschromatosis universalis hereditaria 2, 612715 (2) -chr12 88600000 108600000 12q21-q23 603221 MYP3 Myopia, high grade, 3, autosomal dominant 8782 Myopia-3, 603221 (2), Autosomal dominant -chr12 88600000 92200000 12q21.33 612868 PACD Corneal dystrophy, posterior amorphous contiguous gene deletion syndrome Corneal dystrophy, posterior amorphous, 612868 (4), Autosomal dominant -chr12 88600000 92200000 12q21 169900 PEPB Peptidase B PEPB 5182 -chr12 89347234 89352500 12q21.33 12q21.33 602748 DUSP6, MKP3, PYST1, HH19 Dual-specificity phosphatase-6 DUSP6 1848 ENSG00000139318 Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3), Autosomal dominant Dusp6 (MGI:1914853) -chr12 89419717 89526046 12q21.33 12q21.33 614784 POC1B, PIX1, CORD20 POC1B antisense RNA 1 POC1B 282809 ENSG00000139323 Cone-rod dystrophy 20, 615973 (3), Autosomal recessive Poc1b (MGI:1918511) -chr12 89519411 89524795 12q21.3-q22 12q21.33 603565 GALNT4, GalNAcT4 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 GALNT4 8693 ENSG00000257594 Galnt4 (MGI:894692) -chr12 89588048 89709365 12q21-q23 12q21.33 108731 ATP2B1, PMCA1 ATPase, Ca++ transporting, plasma membrane, 1 ATP2B1 490 ENSG00000070961 Atp2b1 (MGI:104653) -chr12 90963678 91004971 12q21 12q21.33 601657 EPYC, DSPG3 Epiphycan EPYC 1833 ENSG00000083782 Epyc (MGI:107942) -chr12 91050490 91058023 12q22 12q21.33 603288 KERA, CNA2 Keratocan KERA 11081 ENSG00000139330 Cornea plana 2, autosomal recessive, 217300 (3), Autosomal recessive Kera (MGI:1202398) -chr12 91102628 91111493 12q21.3-q22 12q21.33 600616 LUM, LDC Lumican LUM 4060 ENSG00000139329 Lum (MGI:109347) -chr12 91140483 91182816 12q21.3 12q21.33 125255 DCN, CSCD Decorin DCN 1634 ENSG00000011465 conflicting assignments to 12q23 and 12q13.2 Corneal dystrophy, congenital stromal, 610048 (3), Autosomal dominant Dcn (MGI:94872) -chr12 92140277 92145845 12q22 12q21.33 109580 BTG1 BTG antiproliferation factor 1 BTG1 694 ENSG00000133639 Btg1,Btg1b,Btg1c (MGI:88215,MGI:3588265,MGI:3588262) -chr12 92200000 108600000 12q22-q23.3 608096 ETL2, FTLE Epilepsy, familial temporal lobe 619399 max lod at D12S1706 Epilepsy, familial temporal lobe, 2, 608096 (2), Autosomal dominant -chr12 92200000 103500000 12q22-q23.2 608520 MDD1 Major depressive disorder 431708 max lod with D12S1706 Major depressive disorder 1, 608516 (2) -chr12 92420085 92432998 12q22 12q22 616989 CLLU1OS Chronic lymphocytic leukemia upregulated 1, opposite strand CLLU1-AS1 574016 ENSG00000205057 -chr12 92421530 92431001 12q22 12q22 616988 CLLU1 Chronic lymphocytic leukemia upregulated gene 1 CLLU1 574028 ENSG00000257127 -chr12 92770636 92975227 12q22 12q22 605070 EEA1 Early endosome antigen 1 EEA1 8411 ENSG00000102189 Eea1 (MGI:2442192) -chr12 93377924 93408145 12q22 12q22 609229 NUDT4, DIPP2, KIAA0487 Nudix hydrolase 4 NUDT4 11163 ENSG00000173598 Nudt4 (MGI:1918457) -chr12 93405683 93442335 12q22 12q22 603679 UBE2N, UBCHBEN; UBC13 Ubiquitin-conjugating enzyme E2N UBE2N 7334 ENSG00000177889 Ube2n (MGI:1934835) -chr12 93467513 93516213 12q22 12q22 611847 MRPL42, MRPL31, MRPS32 Mitochondrial ribosomal protein L42 MRPL42 28977 ENSG00000198015 Mrpl42 (MGI:1333774) -chr12 93565627 93571397 12q22 12q22 617269 SOCS2AS1 SOCS2 antisense RNA 1 SOCS2-AS1 144481 ENSG00000246985 -chr12 93569848 93626235 12q22 12q22 605117 SOCS2, STATI2, CIS2 Suppressor of cytokine signaling 2 SOCS2 8835 ENSG00000120833 Socs2 (MGI:1201787) -chr12 93677341 93894839 12q21.33-q23.1 12q22 603454 CRADD, RAIDD, MRT34 Caspase and RIP adaptor with death domain CRADD 8738 ENSG00000169372 Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3), Autosomal recessive Cradd (MGI:1336168) -chr12 94265651 94460615 12q22 12q22 615847 CEP83, CCDC41, NPHP18 Centrosomal protein, 83kD CEP83 51134 ENSG00000173588 Nephronophthisis 18, 615862 (3), Autosomal recessive Cep83 (MGI:1924298) -chr12 94148576 94307674 Chr.12 12q22 604259 VESPR Virus-encoded semaphorin protein receptor PLXNC1 10154 ENSG00000136040 Plxnc1 (MGI:1890127) -chr12 94567121 94650556 12q22 12q22 617459 TMCC3 Transmembrane and coiled-coil domain family, member 3 TMCC3 57458 ENSG00000057704 Tmcc3 (MGI:2442900) -chr12 94834397 94834512 12q22 12q22 614384 MIR492 Micro RNA 492 MIR492 574449 ENSG00000283998 within KRT19 -chr12 94971332 95003696 12q22 12q22 614530 NDUFA12, MC1DN23 NADH-ubiquinone oxidoreductase subunit A12 NDUFA12 55967 ENSG00000184752 mutation identified in 1 MC1DN23 patient ?Mitochondrial complex I deficiency, nuclear type 23, 618244 (3), Autosomal recessive Ndufa12 (MGI:1913664) -chr12 95020228 95073617 12q22 12q22 601529 NR2C1, TR2 Nuclear receptor subfamily 2, group C, member 1 NR2C1 7181 ENSG00000120798 Nr2c1 (MGI:1352465) -chr12 95076748 95217466 12q22 12q22 613520 FGD6, ZFYVE24 FYVE, RhoGEF, and ph domain-containing protein 6 FGD6 55785 ENSG00000180263 Fgd6 (MGI:1261419) -chr12 95474151 95515838 12q22 12q22 601870 METAP2, p67 Methionine aminopeptidase 2 METAP2 10988 ENSG00000111142 Metap2 (MGI:1929701) -chr12 95516559 95551528 12q22 12q22 610993 USP44 Ubiquitin-specific protease 44 USP44 84101 ENSG00000136014 Usp44 (MGI:3045318) -chr12 95657806 95791154 12q22-q23 12q22 610401 NTN4 Netrin 4 NTN4 59277 ENSG00000074527 Ntn4 (MGI:1888978) -chr12 95858951 95866139 12q23.1 12q23.1 603541 SNRPF Small nuclear ribonucleoprotein polypeptide F SNRPF 6636 ENSG00000139343 Snrpf (MGI:1917128) -chr12 95972661 95996343 12q22-q23 12q23.1 609457 HAL, HSTD Histidine ammonia-lyase (histidase) HAL 3034 ENSG00000084110 [Histidinemia], 235800 (3), Autosomal dominant, Autosomal recessive Hal (MGI:96010) -chr12 96000752 96043519 12q22 12q23.1 151570 LTA4H Leukotriene A4 hydrolase LTA4H 4048 ENSG00000111144 Lta4h (MGI:96836) -chr12 96194374 96269823 12q23 12q23.1 600247 ELK3, SAP2, ERP ELK3, ETS-domain protein (SRF accessory protein 2) ELK3 2004 ENSG00000111145 Elk3 (MGI:101762) -chr12 96278224 96400438 12q23.1 12q23.1 603440 CDK17, PCTK2, PCTAIRE2 Cyclin-dependent kinase 17 CDK17 5128 ENSG00000059758 Cdk17 (MGI:97517) -chr12 96907221 96953779 12q22 12q23.1 600372 NEDD1 Neural precursor cell expressed, developmentally down-regulated 1 NEDD1 121441 ENSG00000139350 Nedd1 (MGI:97293) -chr12 97462775 97565014 12q21 12q23.1 607045 RMST, NCRMS, NCRNA00054 Rhabdomyosarcoma 2-associated transcript RMST 196475 ENSG00000255794 -chr12 98515572 98550350 12q22 12q23.1 188380 TMPO, LAP2 Thymopoietin TMPO 7112 ENSG00000120802 Tmpo (MGI:106920) -chr12 98593685 98606366 12q23 12q23.1 600370 SLC25A3, PHC Solute carrier family 25 (mitochondrial carrier), member 3 SLC25A3 5250 ENSG00000075415 Mitochondrial phosphate carrier deficiency, 610773 (3), Autosomal recessive Slc25a3 (MGI:1353498) -chr12 98613403 98644787 12q23 12q23.1 609861 IKIP I-kappa-B kinase-interacting protein IKBIP 121457 ENSG00000166130 Ikbip (MGI:1914704) -chr12 98645140 98735432 12q23 12q23.1 602233 APAF1 Apoptotic protease activating factor 1 APAF1 317 ENSG00000120868 Apaf1 (MGI:1306796) -chr12 98729903 99984935 12q23.1 12q23.1 607815 ANKS1B, EB1 Ankyrin repeat and sterile alpha motif domain-containing protein 1B ANKS1B 56899 ENSG00000185046 Anks1b (MGI:1924781) -chr12 100267176 100341714 12q23.1 12q23.1 616365 SCYL2, CVAK104, KIAA1360, AMC4 SCY1-like protein 2 SCYL2 55681 ENSG00000136021 Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, 618766 (3), Autosomal recessive Scyl2 (MGI:1289172) -chr12 100357073 100422054 12q23 12q23.1 607557 SLC17A8, VGLUT3, DFNA25 Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (vesicular glutamate transporter 3) SLC17A8 246213 ENSG00000179520 Deafness, autosomal dominant 25, 605583 (3), Autosomal dominant Slc17a8 (MGI:3039629) -chr12 100473865 100564413 12q23.1 12q23.1 603826 NR1H4, FXR, RIP14, PFIC5 Nuclear receptor subfamily 1 group H member 4 NR1H4 9971 ENSG00000012504 Cholestasis, progressive familial intrahepatic, 5, 617049 (3), Autosomal recessive Nr1h4 (MGI:1352464) -chr12 100573667 100628287 12q23.1 12q23.1 617224 GAS2L3, G2L3 Growth arrest-specific 2-like 3 GAS2L3 283431 ENSG00000139354 Gas2l3 (MGI:1918780) -chr12 100717456 101128640 12q23 12q23.1 610111 TMEM16D, FLJ34272 Transmembrane protein 16D ANO4 121601 ENSG00000151572 Ano4 (MGI:2443344) -chr12 101155492 101210237 12q22-q23 12q23.1-q23.2 608044 SLC5A8, AIT, SMCT Solute carrier family (iodide transporter), member 8 SLC5A8 160728 ENSG00000256870 Slc5a8 (MGI:2384916) -chr12 101200000 103500000 12q23.2 614985 HELLPAR, lncHELLP HELLP syndrome-associated long noncoding RNA HELLPAR 101101692 -chr12 101280104 101386617 12q23.2-q23.3 12q23.2 612822 UTP20, DRIM UTP20 small subunit processome component UTP20 27340 ENSG00000120800 Utp20 (MGI:1917933) -chr12 101393115 101407819 12q23.2 12q23.2 603425 ARL1 ADP ribosylation factor-like GTPase 1 ARL1 400 ENSG00000120805 Arl1 (MGI:99436) -chr12 101475275 101486996 12q22 12q23.2 612568 SPIC SPIC transcription factor SPIC 121599 ENSG00000166211 Spic (MGI:1341168) -chr12 101594848 101695840 12q23.2 12q23.2 160794 MYBPC1, LCCS4, MYOTREM Myosin-binding protein C, slow type MYBPC1 4604 ENSG00000196091 Myopathy, congenital, with tremor, 618524 (3), Autosomal dominant; Lethal congenital contracture syndrome 4, 614915 (3), Autosomal recessive; Arthrogryposis, distal, type 1B, 614335 (3), Autosomal dominant Mybpc1 (MGI:1336213) -chr12 101697639 101752037 12q23.2 12q23.2 616747 CHPT1, CPT, CPT1 Choline phosphotransferase 1 CHPT1 56994 ENSG00000111666 Chpt1 (MGI:2384841) -chr12 101728647 101739720 12q23 12q23.2 604759 SYCP3, SCP3, COR1, SPGF4, RPRGL4 Synaptonemal complex protein 3 SYCP3 50511 ENSG00000139351 Pregnancy loss, recurrent, 4, 270960 (3), Autosomal dominant; Spermatogenic failure 4, 270960 (3), Autosomal dominant Gm6121,Gm4297,Gm14594,Gm5168,Gm20911,Gm5169,1700013H16Rik,Gm14525,Gm5934,Sycp3,Gm10488,Gm4836,Gm5935,Gm21095,Gm1993,Gm773,Gm2012,Gm20890,3830403N18Rik,Gm2030,Slx,Xlr (MGI:3705865,MGI:3809202,MGI:98976,MGI:109542,MGI:2685619,MGI:3646322,MGI:3703318,MGI:1917941,MGI:3779555,MGI:3643862,MGI:99543,MGI:3804938,MGI:3780163,MGI:5434246,MGI:5434267,MGI:3710522,MGI:3780181,MGI:5434450,MGI:3780199,MGI:3782476,MGI:3802008,MGI:1922764) -chr12 101745498 101830958 12q23.3 12q23.2 607840 GNPTAB, GNPTA N-acetylglucosamine-1-phosphate transferase, alpha/beta subunits GNPTAB 79158 ENSG00000111670 conflicting assignment to 4q Mucolipidosis III alpha/beta, 252600 (3), Autosomal recessive; Mucolipidosis II alpha/beta, 252500 (3), Autosomal recessive Gnptab (MGI:3643902) -chr12 101877326 101923622 12q23.2 12q23.2 610776 DRAM1 Damage-regulated autophagy modulator 1 DRAM1 55332 ENSG00000136048 Dram1 (MGI:1918962) -chr12 102073102 102120130 12q23.2 12q23.2 609264 NUP37, p37, MCPH24 Nucleoporin, 37kD NUP37 79023 ENSG00000075188 mutation identified in 1 MCPH24 family ?Microcephaly 24, primary, autosomal recessive, 618179 (3), Autosomal recessive Nup37 (MGI:1919964) -chr12 102120182 102197519 12q23 12q23.2 613687 C12orf48, AROM, PARPBP Chromosome 12 open reading frame 48 PARPBP 55010 ENSG00000185480 Parpbp (MGI:1922567) -chr12 102196458 102199539 12q23-q24 12q23.2 176795 PMCH Pro-melanin-concentrating hormone PMCH 5367 ENSG00000183395 Pmch (MGI:97629) -chr12 102395859 102481838 12q22-q24.1 12q23.2 147440 IGF1 Insulin-like growth factor-1, or somatomedin C IGF1 3479 ENSG00000017427 Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3), Autosomal recessive Igf1 (MGI:96432) -chr12 102836888 102958440 12q24.1 12q23.2 612349 PAH, PKU1 Phenylalanine hydroxylase PAH 5053 ENSG00000171759 close to IGF1 [Hyperphenylalaninemia, non-PKU mild], 261600 (3), Autosomal recessive; Phenylketonuria, 261600 (3), Autosomal recessive Pah (MGI:97473) -chr12 102957673 102960512 12q22-q23 12q23.2 100790 ASCL1, ASH1 Achaete-scute family bHLH transcription factor 1 ASCL1 429 ENSG00000139352 distal to PAH and proximal to TRA1 Ascl1 (MGI:96919) -chr12 103500000 133275309 12q23-q24 613096 SPG36 Spastic paraplegia-36 791228 between D12S360 and D12S354 Spastic paraplegia 36, autosomal dominant, 613096 (2), Autosomal dominant -chr12 103746314 103841238 12q22-q23.1 12q23.3 611076 NT5DC3, TU12B1TY, GNN 5' nucleotidase domain-containing protein 3 NT5DC3 51559 ENSG00000111696 Nt5dc3 (MGI:3513266) -chr12 103930409 103947925 12q23.3 12q23.3 191175 HSP90B1, TRA1, GRP94, GP96 Heat-shock protein, 90kD, beta, 1 HSP90B1 7184 ENSG00000166598 Hsp90b1 (MGI:98817) -chr12 103950193 103965754 12q23.3 12q23.3 618812 C12orf73, BR Chromosome 12 open reading frame 73 (brawnin) C12orf73 728568 ENSG00000204954 1190007I07Rik (MGI:3698433) -chr12 103965841 103988873 12q24.1 12q23.3 601423 TDG Thymine-DNA glycosylase TDG 6996 ENSG00000139372 Tdg,Tdg-ps2 (MGI:3704357,MGI:108247) -chr12 104064525 104108953 12q23.3 12q23.3 607926 HCFC2, HCF2 Host cell factor C2 HCFC2 29915 ENSG00000111727 Hcfc2 (MGI:1915183) -chr12 104117085 104138240 12q23.3 12q23.3 189904 NFYB Transcription factor NF-Y, B subunit NFYB 4801 ENSG00000120837 Nfyb (MGI:97317) -chr12 104215778 104350306 12q23-q24.1 12q23.3 601112 TXNRD1, TXNR Thioredoxin reductase-1 TXNRD1 7296 ENSG00000198431 Txnrd1 (MGI:1354175) -chr12 104303738 104305204 12q23-q24.1 12q23.3 612986 EID3, NSMCE4B, NSE4B E1A-like inhibitor of differentiation 3 EID3 493861 ENSG00000255150 Eid3 (MGI:1913591) -chr12 104456947 104762013 12q23 12q23.3 610128 CHST11, C4ST1, OCBMD Carbohydrate sulfotransferase 11 CHST11 50515 ENSG00000171310 mutation identified in 1 OCBMD family ?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, 618167 (3), Autosomal recessive Chst11 (MGI:1927166) -chr12 104801800 104958745 12q23.3 12q23.3 610802 SLC41A2 Solute carrier family 41, member 2 SLC41A2 84102 ENSG00000136052 Slc41a2 (MGI:2442940) -chr12 105019783 105084608 12q23.3 12q23.3 613584 ALDH1L2 Aldehyde dehydrogenase 1 family, member L2 ALDH1L2 160428 ENSG00000136010 Aldh1l2 (MGI:2444680) -chr12 105107725 105169133 12q23.3 12q23.3 615748 WASHC4, KIAA1033, SWIP, MRT43 WASH complex, subunit 4 WASHC4 23325 ENSG00000136051 mutation identified in 1 MRT43 family ?Mental retardation, autosomal recessive 43, 615817 (3), Autosomal recessive Washc4 (MGI:2441787) -chr12 105173296 105236173 12q24.1 12q23.3 606231 APPL2, FLJ10659 Adaptor protein, phosphotyrosine interaction, PH domain, and leucine zipper-containing protein 2 APPL2 55198 ENSG00000136044 Appl2 (MGI:2384914) -chr12 106063344 106138953 12q23.3 12q23.3 608130 NUAK1, ARK5, KIAA0537 NUAK family, SNF1-like kinase, 1 NUAK1 9891 ENSG00000074590 Nuak1 (MGI:1925226) -chr12 106237880 106248019 12q23.3 12q23.3 618595 CKAP4, CLIMP63 Cytoskeleton-associated protein 4 CKAP4 10970 ENSG00000136026 Ckap4 (MGI:2444926) -chr12 106357711 106510197 12q23.3 12q23.3 614366 POLR3B, RPC2, C128, HLD8 Polymerase III, RNA, subunit B POLR3B 55703 ENSG00000013503 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3), Autosomal recessive Polr3b (MGI:1917678) -chr12 106583003 106762802 12q23.3 12q23.3 603958 RFX4 Regulatory factor X, 4 RFX4 5992 ENSG00000111783 Rfx4 (MGI:1918387) -chr12 106774620 106889315 12q23.3 12q23.3 609147 RIC8B RIC8 guanine nucleotide exchange factor B RIC8B 55188 ENSG00000111785 Ric8b (MGI:2682307) -chr12 106972855 106987165 12q23.3 12q23.3 616929 MTERF2, MTERFD3 Transcription termination factor 2, mitochondrial MTERF2 80298 ENSG00000120832 Mterf2 (MGI:1921488) -chr12 106991363 107093871 12q23-q24.1 12q23.3 601933 CRY1, PHLL1, DSPD Cryptochrome 1 (photolyase-like) CRY1 1407 ENSG00000008405 {Delayed sleep phase disorder, susceptibility to}, 614163 (3), Autosomal dominant Cry1 (MGI:1270841) -chr12 107732865 107761271 12q23-q24.1 12q23.3 605780 PRDM4, PFM1 PR domain-containing protein 4 PRDM4 11108 ENSG00000110851 Prdm4 (MGI:1920093) -chr12 108129287 108250536 12q23.3 12q23.3 619253 WSCD2, KIAA0789 WSC domain-containing protein 2 WSCD2 9671 ENSG00000075035 Wscd2 (MGI:2445030) -chr12 108288043 108339346 12q24.1 12q23.3 602351 CMKLR1 Chemokine-like receptor 1 CMKLR1 1240 ENSG00000174600 Cmklr1 (MGI:109603) -chr12 108522213 108561172 12q24.1 12q23.3 611684 SART3, P100, KIAA0156, TIP110 Spliceosome-associated factor 3, U4/U6 recycling protein SART3 9733 ENSG00000075856 Sart3 (MGI:1858230) -chr12 108561462 108569383 12q24.1 12q23.3 611911 ISCU, HML Iron-sulfur cluster scaffold, E. coli, homolog of ISCU 23479 ENSG00000136003 Myopathy with lactic acidosis, hereditary, 255125 (3), Autosomal recessive Iscu (MGI:1913633) -chr12 108589845 108598098 12q23.3 12q23.3 618989 TMEM119, OBIF Transmembrane protein 119 TMEM119 338773 ENSG00000183160 Tmem119 (MGI:2385228) -chr12 108621894 108633893 12q24 12q24.11 600738 SELPLG, PSGL1 Selectin P ligand SELPLG 6404 ENSG00000110876 Selplg (MGI:106689) -chr12 108645108 108759954 12q24.1 12q24.11 605269 CORO1C Coronin 1C CORO1C 23603 ENSG00000110880 Coro1c (MGI:1345964) -chr12 108778190 108857605 12q24.11 12q24.11 606778 SSH1, KIAA1298 Slingshot protein phosphatase 1 SSH1 54434 ENSG00000084112 Ssh1 (MGI:2686240) -chr12 108880029 108901042 12q24 12q24.11 124050 DAO, DAMOX D-amino-acid oxidase DAO 1610 ENSG00000110887 Dao (MGI:94859) -chr12 108907740 109021067 12q24.1 12q24.11 611699 SVOP SV2-related protein SVOP 55530 ENSG00000166111 Svop (MGI:1915916) -chr12 109023088 109088025 12q23-q24 12q24.11 612492 USP30 Ubiquitin-specific protease 30 USP30 84749 ENSG00000135093 Usp30 (MGI:2140991) -chr12 109088188 109093630 12q23.3 12q24.11 610602 ALKBH2, ABH2 AlkB homolog 2, alpha-ketoglutarate-dependent dioxygenase ALKBH2 121642 ENSG00000189046 Alkbh2 (MGI:2141032) -chr12 109097596 109110991 12q23-q24.1 12q24.11 191525 UNG, DGU, HIGM5 Uracil-DNA glycosylase UNG 7374 ENSG00000076248 Immunodeficiency with hyper IgM, type 5, 608106 (3), Autosomal recessive Ung (MGI:109352) -chr12 109112665 109268225 12q24.1 12q24.11 601557 ACACB, ACCB, ACC2 Acetyl-Coenzyme A carboxylase, beta ACACB 32 ENSG00000076555 Acacb (MGI:2140940) -chr12 109277977 109309405 12q24.1 12q24.11 609429 FOXN4 Forkhead box N4 FOXN4 121643 ENSG00000139445 Foxn4 (MGI:2151057) -chr12 109388276 109448370 12q24.11 12q24.11 614636 MYO1H, CCHS2 Myosin IH MYO1H 283446 ENSG00000174527 mutation identified in 1 CCHS2 family ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, 619482 (3) Myo1h (MGI:1914674) -chr12 109448654 109477299 12q24.11 12q24.11 613421 KCTD10 Potassium channel tetramerization domain-containing 10 KCTD10 83892 ENSG00000110906 Kctd10 (MGI:2141207) -chr12 109477409 109543627 12q24.11 12q24.11 608047 UBE3B, BPIDS, KOS Ubiquitin-protein ligase E3B UBE3B 89910 ENSG00000151148 Kaufman oculocerebrofacial syndrome, 244450 (3), Autosomal recessive Ube3b (MGI:1891295) -chr12 109553714 109573579 12q24 12q24.11 607568 MMAB Metabolism of cobalamin associated B MMAB 326625 ENSG00000139428 Methylmalonic aciduria, vitamin B12-responsive, cblB type, 251110 (3), Autosomal recessive Mmab (MGI:1924947) -chr12 109573460 109598124 12q24 12q24.11 251170 MVK, MVLK, POROK3 Mevalonate kinase MVK 4598 ENSG00000110921 Hyper-IgD syndrome, 260920 (3), Autosomal recessive; Porokeratosis 3, multiple types, 175900 (3), Autosomal dominant; Mevalonic aciduria, 610377 (3), Autosomal recessive Mvk (MGI:107624) -chr12 109783086 109833397 12q24.1 12q24.11 605427 TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3 Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel) TRPV4 59341 ENSG00000111199 mutation identified in 1 ANFH2 family Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3), Autosomal dominant; Digital arthropathy-brachydactyly, familial, 606835 (3), Autosomal dominant; [Sodium serum level QTL 1], 613508 (3); SED, Maroteaux type, 184095 (3), Autosomal dominant; Metatropic dysplasia, 156530 (3), Autosomal dominant; Scapuloperoneal spinal muscular atrophy, 181405 (3), Autosomal dominant; Hereditary motor and sensory neuropathy, type IIc, 606071 (3), Autosomal dominant; ?Avascular necrosis of femoral head, primary, 2, 617383 (3), Autosomal dominant; Neuronopathy, distal hereditary motor, type VIII, 600175 (3), Autosomal dominant; Parastremmatic dwarfism, 168400 (3), Autosomal dominant; Brachyolmia type 3, 113500 (3), Autosomal dominant Trpv4 (MGI:1926945) -chr12 109850944 109880540 12q24.11 12q24.11 608949 GLTP Glycolipid transfer protein GLTP 51228 ENSG00000139433 Gltp (MGI:1929253) -chr12 109880666 109918068 12q24.1 12q24.11 612654 TCHP Trichoplein TCHP 84260 ENSG00000139437 Tchp (MGI:1925082) -chr12 109929791 109996367 12q24.1 12q24.11 608564 GIT2, CAT2 GIT ArfGAP 2 GIT2 9815 ENSG00000139436 Git2 (MGI:1347053) -chr12 109999168 110039762 12q24.11 12q24.11 615123 ANKRD13A Ankyrin repeat domain-containing protein 13A ANKRD13A 88455 ENSG00000076513 Ankrd13a (MGI:1915670) -chr12 110124334 110218792 12q24.13 12q24.11 605489 IFT81, DV1, CDV1R, SRTD19 Intraflagellar transport 81 IFT81 28981 ENSG00000122970 Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3), Autosomal recessive Ift81 (MGI:1098597) -chr12 110281246 110351092 12q23-q24.1 12q24.11 108740 ATP2A2, ATP2B, DAR ATPase, Ca++ transporting, slow-twitch, cardiac muscle-2 ATP2A2 488 ENSG00000174437 Acrokeratosis verruciformis, 101900 (3), Autosomal dominant; Darier disease, 124200 (3), Autosomal dominant Atp2a2 (MGI:88110) -chr12 110372899 110403729 12q24.11 12q24.11 606949 ANAPC7, APC7 Anaphase-promoting complex, subunit 7 ANAPC7 51434 ENSG00000196510 Anapc7 (MGI:1929711) -chr12 110434822 110450336 12q24.11 12q24.11 604225 ARPC3, ARC21 Actin-related protein 2/3 complex, subunit 3 ARPC3 10094 ENSG00000111229 Arpc3 (MGI:1928375) -chr12 110491082 110502110 12q24.11 12q24.11 606932 VPS29, PEP11 VPS29 retromer complex component VPS29 51699 ENSG00000111237 Vps29 (MGI:1928344) -chr12 110501650 110534631 12q24 12q24.11 608368 RAD9B RAD9 checkpoint clamp component B RAD9B 144715 ENSG00000151164 Rad9b (MGI:2385231) -chr12 110533244 110583317 12q24.1 12q24.11 609668 PPTC7, TAPP2C Protein phosphatase targeting CoQ7 PPTC7 160760 ENSG00000196850 Pptc7 (MGI:2444593) -chr12 110614067 110649429 12q24.1 12q24.11 609863 TECT1, JBTS13 Tectonic family, member 1 TCTN1 79600 ENSG00000204852 Joubert syndrome 13, 614173 (3), Autosomal recessive Tctn1 (MGI:3603820) -chr12 110648685 110704944 12q24.11 12q24.11 611227 HVCN1, HV1, VSOP Hydrogen voltage-gated channel 1 HVCN1 84329 ENSG00000122986 Hvcn1 (MGI:1921346) -chr12 110708368 110742913 12q24.1-q24.2 12q24.11 176914 PPP1CC Protein phosphatase-1, catalytic subunit, gamma isoform PPP1CC 5501 ENSG00000186298 Ppp1cc,Ppp1ccb (MGI:104872,MGI:3647492) -chr12 110844488 110907534 12q24.11 12q24.11 617969 CCDC63, ODA5 Coiled-coil domain-containing protein 63 CCDC63 160762 ENSG00000173093 Ccdc63 (MGI:3607777) -chr12 110910844 110920578 12q23-q24.3 12q24.11 160781 MYL2, CMH10, MFM12 Myosin, light polypeptide-2, regulatory, cardiac, slow MYL2 4633 ENSG00000111245 Cardiomyopathy, hypertrophic, 10, 608758 (3), Autosomal dominant; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, 619424 (3), Autosomal recessive Myl2 (MGI:97272) -chr12 111034164 111350555 12q24.1 12q24.11-q24.12 610648 CUX2, CDP2, CUTL2, DEE67 Cut-like homeobox 2 CUX2 23316 ENSG00000111249 Developmental and epileptic encephalopathy 67, 618141 (3), Autosomal dominant Cux2 (MGI:107321) -chr12 111360678 111369094 12q24.12 12q24.12 614239 FAM109A, SES1, IPIP27A Family with sequence similarity 109, member A PHETA1 144717 ENSG00000198324 Pheta1 (MGI:2442708) -chr12 111405106 111451622 12q24 12q24.12 605093 SH2B3, LNK SH2B adaptor protein 3 SH2B3 10019 ENSG00000111252 Thrombocythemia, somatic, 187950 (3); Myelofibrosis, somatic, 254450 (3); Erythrocytosis, somatic, 133100 (3) Sh2b3 (MGI:893598) -chr12 111452213 111599672 12q24 12q24.12 601517 ATXN2, ATX2, SCA2, ASL13 Ataxin-2 ATXN2 6311 ENSG00000204842 {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3), Autosomal dominant; Spinocerebellar ataxia 2, 183090 (3), Autosomal dominant; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Autosomal dominant, Multifactorial Atxn2 (MGI:1277223) -chr12 111642145 111686022 12q24 12q24.12 604986 BRAP, BRAP2, IMP BRCA1-associated protein BRAP 8315 ENSG00000089234 Brap (MGI:1919649) -chr12 111686052 111757098 12q24.1 12q24.12 611181 ACAD10 Acyl-CoA dehydrogenase family, member 10 ACAD10 80724 ENSG00000111271 Acad12,Acad10 (MGI:1919235,MGI:2443320) -chr12 111766932 111817531 12q24.2 12q24.12 100650 ALDH2 Aldehyde dehydrogenase 2 family, mitochondrial ALDH2 217 ENSG00000111275 {Esophageal cancer, alcohol-related, susceptibility to} (3); {Sublingual nitroglycerin, susceptibility to poor response to} (3); Alcohol sensitivity, acute, 610251 (3), Autosomal dominant; {Hangover, susceptibility to}, 610251 (3), Autosomal dominant Aldh2 (MGI:99600) -chr12 111842227 111902221 12q24.12-q24.13 12q24.12-q24.13 606723 MAPKAPK5, PRAK Mitogen-activated protein kinase-activated protein kinase 5 MAPKAPK5 8550 ENSG00000089022 Mapkapk5 (MGI:1333110) -chr12 111900000 120300000 12q24.1-q24.2 175850 POROK2, PPPD1 Porokeratosis 2, palmar, plantar, and disseminated 100196910 between D12S1613 and D12S1341 Porokeratosis 2, palmar, plantar, and disseminated, 175850 (2), Autosomal dominant -chr12 111900000 113900000 12q24.1 609261 STUT2 Stuttering, familial persistent, 2 100049543 max lod with PAH Stuttering, familial persistent, 2, 609261 (2) -chr12 112013339 112023448 Chr.12 12q24.13 602287 C12orf8, ERP28, ERP29 Endoplasmic reticulum lumenal protein 28 ERP29 10961 ENSG00000089248 Erp29 (MGI:1914647) -chr12 112026688 112108803 12q24.13 12q24.13 612755 NAA25, MDM20, C12orf30 N-alpha-acetyltransferase 25, NatB auxiliary subunit NAA25 80018 ENSG00000111300 Naa25 (MGI:2442563) -chr12 112125559 112153603 12q24.13 12q24.13 613197 TRAFD1, FLN29 TRAF-type zinc finger domain-containing 1 TRAFD1 10906 ENSG00000135148 Trafd1 (MGI:1923551) -chr12 112405180 112418849 12q 12q24.13 603703 RPL6 Ribosomal protein L6 RPL6 6128 ENSG00000089009 Rpl6 (MGI:108057) -chr12 112418914 112509917 12q24.1 12q24.13 176876 PTPN11, PTP2C, SHP2, NS1, JMML, METCDS Protein tyrosine phosphatase, nonreceptor-type, 11 PTPN11 5781 ENSG00000179295 Noonan syndrome 1, 163950 (3), Autosomal dominant; LEOPARD syndrome 1, 151100 (3), Autosomal dominant; Metachondromatosis, 156250 (3), Autosomal dominant; Leukemia, juvenile myelomonocytic, somatic, 607785 (3) Ptpn11 (MGI:99511) -chr12 112575235 112898880 12q24.1 12q24.13 612159 RPH3A, KIAA0985 Rabphilin 3A RPH3A 22895 ENSG00000089169 Rph3a (MGI:102788) -chr12 112906955 112933218 12q24.2 12q24.13 164350 OAS1, OIAS 2',5'-oligoadenylate synthetase-1 OAS1 4938 ENSG00000089127 Oas1g,Oas1f,Oas1e,Oas1d,Oas1c,Oas1b,Oas1a,Oas1h (MGI:2180860,MGI:2140770,MGI:2180853,MGI:2180855,MGI:97429,MGI:2180856,MGI:2149633,MGI:97430) -chr12 112938462 112973250 12q24.2 12q24.13 603351 OAS3 2',5'-oligoadenylate synthetase-3 OAS3 4940 ENSG00000111331 Oas3 (MGI:2180850) -chr12 112978465 113011722 12q24.2 12q24.13 603350 OAS2 2',5'-oligoadenylate synthetase-2 OAS2 4939 ENSG00000111335 Oas2 (MGI:2180852) -chr12 113056729 113098024 12q24 12q24.13 602582 DTX1 Deltex E3 ubiquitin ligase 1 DTX1 1840 ENSG00000135144 Dtx1 (MGI:1352744) -chr12 113096514 113136247 12q23-q24 12q24.13 604118 RASAL1, RASAL Ras protein activator-like 1 RASAL1 8437 ENSG00000111344 Rasal1 (MGI:1330842) -chr12 113157172 113185477 12q22-q23 12q24.13 611665 DDX54, DP97 DEAD-box helicase 54 DDX54 79039 ENSG00000123064 Ddx54 (MGI:1919240) -chr12 113221428 113298588 12q24.1 12q24.13 609666 TPCN1, TPC1, KIAA1169 Two-pore segment channel 1 TPCN1 53373 ENSG00000186815 Tpcn1 (MGI:2182472) -chr12 113298770 113335115 12q24 12q24.13 609841 SLC8B1, SLC24A6, NCKX6 Solute carrier family 8 member B1 SLC8B1 80024 ENSG00000089060 Slc8b1 (MGI:2180781) -chr12 113392444 113403886 12q24.13 12q24.13 182128 SDS, SDH Serine dehydratase SDS 10993 ENSG00000135094 Sds (MGI:98270) -chr12 113462032 113471870 12q24.31-q24.32 12q24.13 605992 LHX5 LIM homeo box protein 5 LHX5 64211 ENSG00000089116 Lhx5 (MGI:107792) -chr12 113816739 113966370 12q24.13-q24.21 12q24.13-q24.21 616444 RBM19, KIAA0682 RNA-binding motif protein 19 RBM19 9904 ENSG00000122965 Rbm19 (MGI:1921361) -chr12 114353910 114408707 12q24.1 12q24.21 601620 TBX5 T-box 5 TBX5 6910 ENSG00000089225 Holt-Oram syndrome, 142900 (3), Autosomal dominant Tbx5 (MGI:102541) -chr12 114670254 114684174 12q24.1 12q24.21 601621 TBX3 T-box 3 TBX3 6926 ENSG00000135111 Ulnar-mammary syndrome, 181450 (3), Autosomal dominant Tbx3 (MGI:98495) -chr12 115958575 116277692 12q24 12q24.21 608771 MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025, MRFACD Mediator complex subunit 13-like MED13L 23389 ENSG00000123066 Impaired intellectual development and distinctive facial features with or without cardiac defects, 616789 (3), Autosomal dominant; Transposition of the great arteries, dextro-looped 1, 608808 (3), Autosomal dominant Med13l (MGI:2670178) -chr12 116856143 116881440 12q24.2 12q24.22 603447 HRK, DP5 Harakiri HRK 8739 ENSG00000135116 Hrk (MGI:1201608) -chr12 116910948 117032497 12q24.23 12q24.22 609073 FBXW8, FBW8, FBXW6, FBW6, FBXO29, FBX29 F-box and WD40 domain protein 8 FBXW8 26259 ENSG00000174989 Fbxw8 (MGI:1923041) -chr12 117038922 117099489 12q24.2 12q24.22 611585 TESC, TSC Tescalcin, mouse, homolog of TESC 54997 ENSG00000088992 Tesc (MGI:1930803) -chr12 117141990 117190470 12q24.23 12q24.22 609095 FBXO21, FBX21, KIAA0875 F-box only protein 21 FBXO21 23014 ENSG00000135108 Fbxo21 (MGI:1924223) -chr12 117208141 117361625 12q24.2-q24.31 12q24.22 163731 NOS1 Nitric oxide synthase 1, neuronal NOS1 4842 ENSG00000089250 Nos1 (MGI:97360) -chr12 117453011 117968989 12q24.2 12q24.22-q24.23 610737 KSR2 Kinase suppressor of RAS 2 KSR2 283455 ENSG00000171435 Ksr2 (MGI:3610315) -chr12 117700000 133275309 12q24.2-q24.3 614422 CTRCT37, CCA5 Cataract 37 100861439 between D12S1718 and D12S1723 Cataract 37, autosomal dominant, 614422 (2), Autosomal dominant -chr12 117700000 120300000 12q24.2 601407 NIDDM2 Diabetes mellitus, noninsulin-dependent, 2 4813 no mutations found in HNF1A Diabetes mellitus, noninsulin-dependent, 2, 601407 (2) -chr12 117700000 133275309 12q24.2-q24.3 603416 RPL21P1, ALFN1, HALF1 Ribosomal protein L21 pseudogene 1 RPL21P1 6145 ENSG00000214760 -chr12 118016660 118033563 12q24.2-q24.3 12q24.23 600407 RFC5 Replication factor C5, 36.5kD (activator 1, 36.5kD) RFC5 5985 ENSG00000111445 Rfc5 (MGI:1919401) -chr12 118136123 118145583 12q24.23 12q24.23 604591 PEBP1, PBP, RKIP Phosphatidylethanolamine-binding protein 1 PEBP1 5037 ENSG00000089220 Pbp2,Pebp1 (MGI:1344408,MGI:1923650) -chr12 118149800 118372949 12q24.23 12q24.23 616711 TAOK3, JIK, DPK TAO kinase 3 TAOK3 51347 ENSG00000135090 Taok3 (MGI:3041177) -chr12 118373188 118418032 12q24.23 12q24.23 608250 SUDS3, SDS3, SAP45 SDS3 homolog, SIN3A corepressor complex component SUDS3 64426 ENSG00000111707 Suds3 (MGI:1919204) -chr12 118981540 119163050 12q24.23 12q24.23 613103 SRRM4, KIAA1853, NSR100 Serine/arginine repetitive matrix protein 4 SRRM4 84530 ENSG00000139767 Srrm4 (MGI:1916205) -chr12 119178930 119194745 12q24 12q24.23 608014 HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A Heat-shock 22-kD protein 8 HSPB8 26353 ENSG00000152137 Neuronopathy, distal hereditary motor, type IIA, 158590 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3), Autosomal dominant Hspb8 (MGI:2135756) -chr12 119592122 119654454 12q24.23 12q24.23 618296 TMEM233, DSPB2 Transmembrane protein 233 TMEM233 387890 ENSG00000224982 Tmem233 (MGI:3651514) -chr12 119667863 119681623 12q24.1 12q24.23 602740 PRKAB1 Protein kinase, AMP-activated, noncatalytic, beta-1 PRKAB1 5564 ENSG00000111725 Prkab1 (MGI:1336167) -chr12 119685790 119877319 12q24.1-q24.3 12q24.23 605629 CIT, STK21, CRIK, MCPH17 Citron rho-interacting serine/threonine kinase CIT 11113 ENSG00000122966 Microcephaly 17, primary, autosomal recessive, 617090 (3), Autosomal recessive Cit (MGI:105313) -chr12 119989235 120094494 12q24.23 12q24.23 617002 BICDL1, BICDR1, CCDC64 BICD family-like cargo adaptor 1 BICDL1 92558 ENSG00000135127 Bicdl1 (MGI:1922915) -chr12 120095093 120117468 12q24.23 12q24.23 604199 RAB35 Ras-associated protein Rab35 RAB35 11021 ENSG00000111737 Rab35 (MGI:1924657) -chr12 120127201 120194714 12q24.2 12q24.23 605614 GCN1, GCN1L1 GCN1 activator of EIF2AK4 GCN1 10985 ENSG00000089154 Gcn1 (MGI:2444248) -chr12 120196698 120201110 Chr.12 12q24.23 180510 RPLP0 Ribosomal phosphoprotein, large, P0 RPLP0 6175 ENSG00000089157 Rplp0 (MGI:1927636) -chr12 120210446 120265736 12q24 12q24.23 602505 PXN Paxillin PXN 5829 ENSG00000089159 Pxn (MGI:108295) -chr12 120291779 120313248 12q24.31 12q24.23-q24.31 604482 SIRT4, SIR2L4 Sirtuin, S. cerevisiae, homolog 4 SIRT4 23409 ENSG00000089163 Sirt4 (MGI:1922637) -chr12 120300000 125400000 12q24.31 612573 MPVQTL1 Mean platelet volume quantitative trait locus 1 100271867 associated with rs7961894 [Mean platelet volume QTL1], 612573 (2) -chr12 120322114 120327778 12q23-q24.1 12q24.31 172410 PLA2G1B, PLA2A, PLA2, PPLA2 Phospholipase A2, group IB, pancreas PLA2G1B 5319 ENSG00000170890 Pla2g1b (MGI:101842) -chr12 120339661 120369173 12q24.1-q24.31 12q24.31 603328 MSI1 Musashi RNA binding protein 1 MSI1 4440 ENSG00000135097 Msi1 (MGI:107376) -chr12 120438112 120440729 12q24.2 12q24.31 602072 COX6A1, CMTRID Cytochrome c oxidase, subunit VIa, polypeptide-1 COX6A1 1337 ENSG00000111775 pseudogenes on chr.7 and chr.6 Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3), Autosomal recessive Cox6a1 (MGI:103099) -chr12 120443963 120446383 12q24.31 12q24.31 614943 TRIAP1, HSPC132 TP53-regulated inhibitor of apoptosis 1 TRIAP1 51499 ENSG00000170855 Triap1 (MGI:1916326) -chr12 120446443 120463748 12q24.31 12q24.31 617210 GATC, COXPD42 Glutamyl-tRNA amidotransferase, subunit C GATC 283459 ENSG00000257218 Combined oxidative phosphorylation deficiency 42, 618839 (3), Autosomal recessive Gatc (MGI:1923776) -chr12 120461671 120469747 12q24.31 12q24.31 601943 SRSF9, SFRS9, SRp30c Splicing factor, serine/arginine-rich, 9 SRSF9 8683 ENSG00000111786 Srsf9 (MGI:104896) -chr12 120469841 120498492 12q24.2 12q24.31 601562 DYNLL1, DNCL1, DLC1, PIN Dynein, light chain, LC8-type 1 DYNLL1 8655 ENSG00000088986 possible pseudogene on 14q24 BC048507,Dynll1 (MGI:3040680,MGI:1861457) -chr12 120490337 120495945 12q24.31 12q24.31 616207 NRAV, DYNLL1AS1 Negative regulator of antiviral response, noncoding NRAV 100506668 ENSG00000248008 overlaps intron 1 of DYNLL1 in antisense orientation -chr12 120503278 120534612 12q24.31 12q24.31 616359 COQ5, COQ10D9 Coenzyme Q5, methyltransferasef COQ5 84274 ENSG00000110871 mutation identified in 1 COQ10D9 family ?Coenzyme Q10 deficiency, primary, 9, 619028 (3), Autosomal recessive Coq5 (MGI:1098643) -chr12 120534352 120577587 12q24.31 12q24.31 615998 RNF10, KIAA0262 RING finger protein 10 RNF10 9921 ENSG00000022840 Rnf10 (MGI:1859162) -chr12 120578763 120581451 12q24.31 12q24.31 609992 POP5, HSPC004 Processing of precursor 5, S. cerevisiae, homolog of POP5 51367 ENSG00000167272 Pop5 (MGI:2151221) -chr12 120640551 120680868 12q24.31 12q24.31 605563 CABP1, CALBRAIN Calcium-binding protein 1 CABP1 9478 ENSG00000157782 Cabp1 (MGI:1352750) -chr12 120687148 120701858 12q24.31 12q24.31 613802 MLEC, KIAA0152 Malectin MLEC 9761 ENSG00000110917 Mlec (MGI:1924015) -chr12 120725825 120740007 12q22-qter 12q24.31 606885 ACADS, SCAD Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain ACADS 35 ENSG00000122971 Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3), Autosomal recessive Acads (MGI:87868) -chr12 120762509 120904357 12q24.31 12q24.31 608240 SPPL3, IMP2 Signal peptide peptidase-like 3 SPPL3 121665 ENSG00000157837 Sppl3 (MGI:1891433) -chr12 120977682 121002511 12q24.2 12q24.31 142410 HNF1A, TCF1, MODY3, IDDM20 HNF1 homeobox B HNF1A 6927 ENSG00000135100 Hepatic adenoma, somatic, 142330 (3); Diabetes mellitus, insulin-dependent, 20, 612520 (3); {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3), Autosomal dominant; MODY, type III, 600496 (3), Autosomal dominant; {Diabetes mellitus, insulin-dependent}, 222100 (3), Autosomal recessive; Renal cell carcinoma, 144700 (3) Hnf1a (MGI:98504) -chr12 121018881 121039241 12q24.2 12q24.31 603281 OASL, TRIP14 2',5'-oligoadenylate synthetase-like OASL 8638 ENSG00000135114 Oasl1 (MGI:2180849) -chr12 121132818 121188031 12q24 12q24.31 602566 P2RX7, P2X7 Purinergic receptor P2X, ligand-gated ion channel, 7 P2RX7 5027 ENSG00000089041 P2rx7 (MGI:1339957) -chr12 121210095 121234105 12q24.32 12q24.31 600846 P2RX4, P2X4 Purinergic receptor P2X, ligand-gated ion channel, 4 P2RX4 5025 ENSG00000135124 P2rx4 (MGI:1338859) -chr12 121237691 121297818 12q24.2 12q24.31 615002 CAMKK2, KIAA0787, CAMKKB Calcium/calmodulin-dependent protein kinase kinase 2, beta CAMKK2 10645 ENSG00000110931 Camkk2 (MGI:2444812) -chr12 121308244 121354208 Chr.12 12q24.31 606948 ANAPC5, APC5 Anaphase-promoting complex, subunit 5 ANAPC5 51433 ENSG00000089053 Anapc5 (MGI:1929722) -chr12 121400095 121424351 12q23-q24.1 12q24.31 608299 RNF34, RFI Ring finger protein 34 RNF34 80196 ENSG00000170633 Rnf34 (MGI:2153340) -chr12 121402287 121582267 12q24.31 12q24.31 609078 KDM2B, FBXL10, FBL10, CXXC2, JHDM1B Lysine demethylase 2B KDM2B 84678 ENSG00000089094 Kdm2b (MGI:1354737) -chr12 121626549 121642039 12q24 12q24.31 610277 ORAI1, TMEM142A, CRACM1, IMD9, TAM2 ORAI calcium release-activated calcium modulator 1 ORAI1 84876 Immunodeficiency 9, 612782 (3), Autosomal recessive; Myopathy, tubular aggregate, 2, 615883 (3), Autosomal dominant Orai1 (MGI:1925542) -chr12 121712751 121782067 12q24.31 12q24.31 616551 TMEM120B Transmembrane protein 120B TMEM120B 144404 ENSG00000188735 Tmem120b (MGI:3603158) -chr12 121777753 121793687 12q24.31 12q24.31 618867 RHOF, RIF RAS homolog gene family, member F, filopodia-associated RHOF 54509 ENSG00000139725 Rhof (MGI:1345629) -chr12 121803664 121832655 12q24.31 12q24.31 611055 SETD1B, SET1B, KIAA1076, IDDSELD SET domain-containing protein 1B SETD1B 23067 ENSG00000139718 Intellectual developmental disorder with seizures and language delay, 619000 (3), Autosomal dominant Setd1b (MGI:2652820) -chr12 121839526 121888610 12q24-qter 12q24.31 609695 HPD 4-hydroxyphenylpyruvate dioxygenase HPD 3242 ENSG00000158104 Hawkinsinuria, 140350 (3), Autosomal dominant; Tyrosinemia, type III, 276710 (3), Autosomal recessive Hpd (MGI:96213) -chr12 121888789 121918296 12q24.2-q24.3 12q24.31 603146 PSMD9 Proteasome 26S subunit, non-ATPase, 9 PSMD9 5715 ENSG00000110801 Psmd9 (MGI:1914401) -chr12 121918591 122003918 12q24.31 12q24.31 618146 WDR66, CFAP251, SPGF33 WD repeat-containing protein 66 CFAP251 144406 ENSG00000158023 Spermatogenic failure 33, 618152 (3), Autosomal recessive Wdr66 (MGI:1918495) -chr12 122021883 122062043 12q24.1 12q24.31 601406 BCL7A, BCL7 B-cell CLL/lymphoma-7A BCL7A 605 ENSG00000110987 B-cell non-Hodgkin lymphoma, high-grade (3) Bcl7a (MGI:1924295) -chr12 122078743 122147343 12q21.31 12q24.31 608090 MLXIP, MONDOA, KIAA0867 MLX-interacting protein MLXIP 22877 ENSG00000175727 Mlxip (MGI:2141183) -chr12 122172028 122174220 12q24.31 12q24.31 609509 IL31 Interleukin 31 IL31 386653 ENSG00000204671 Il31 (MGI:1923649) -chr12 122203708 122208951 12q24.31 12q24.31 605864 B3GNT4 Beta-1,3-N-acetylglucosaminyltransferase 4 B3GNT4 79369 ENSG00000176383 B3gnt4 (MGI:2680208) -chr12 122207661 122227455 12q24.31 12q24.31 605219 DIABLO, SMAC, DFNA64 Diablo IAP-binding mitochondrial protein DIABLO 56616 ENSG00000184047 Deafness, autosomal dominant 64, 614152 (3), Autosomal dominant Diablo (MGI:1913843) -chr12 122229563 122266493 12q24.31 12q24.31 610034 VPS33A, MPSPS VPS33A core subunit of CORVET and HOPS complexes VPS33A 65082 ENSG00000139719 Mucopolysaccharidosis-plus syndrome, 617303 (3), Autosomal recessive Vps33a (MGI:1924823) -chr12 122271431 122422955 12q24.3 12q24.31 179838 CLIP1, RSN, CYLN1, CLIP170 CAP-GLY domain containing linker protein 1 CLIP1 6249 ENSG00000130779 Clip1 (MGI:1928401) -chr12 122471599 122501183 12q24.31 12q24.31 616381 ZCCHC8, PFBMFT5 Zinc finger CCHC domain-containing protein 8 ZCCHC8 55596 ENSG00000033030 mutation identified in 1 PFBMFT5 family ?Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, 618674 (3), Autosomal dominant Zcchc8 (MGI:1917900) -chr12 122527105 122626408 12q24.31 12q24.31 607363 KNTC1, ROD, KIAA0166 Kinetochore-associated protein 1 KNTC1 9735 ENSG00000184445 previously assigned to chr.17 Kntc1 (MGI:2673709) -chr12 122701292 122703356 12q24.31 12q24.31 609163 HCAR2, GPR109A, HM74A Hydroxycarboxylic acid receptor 2 HCAR2 338442 ENSG00000182782 Hcar2 (MGI:1933383) -chr12 122714755 122716810 12q24.31 12q24.31 606039 HCAR3, GPR109B, HM74, PUMAG Hydroxycarboxylic acid receptor 3 HCAR3 8843 ENSG00000255398 Hcar2 (MGI:1933383) -chr12 122726075 122730843 12q24.31 12q24.31 606923 HCAR1, GPR81, TAGPCR Hydroxycarboxylic acid receptor 1 HCAR1 27198 ENSG00000196917 Hcar1 (MGI:2441671) -chr12 122752823 122771063 12q24.31 12q24.31 604550 DENR, DRP Density-regulated protein DENR 8562 ENSG00000139726 Denr (MGI:1915434) -chr12 122773620 122827527 12q24.31 12q24.31 613481 CCDC62, ERAP75 Coiled-coil domain-containing protein 62 CCDC62 84660 ENSG00000130783 Ccdc62 (MGI:2684996) -chr12 122834497 122862960 12q24.2-q24.3 12q24.31 605613 HIP1R, HIP12 Huntingtin-interacting protein 1-related protein HIP1R 9026 ENSG00000130787 Hip1r (MGI:1352504) -chr12 122865329 122896142 12q24.31 12q24.31 610037 VPS37B VPS37B subunit of ESCRT-I VPS37B 79720 ENSG00000139722 Vps37b (MGI:1916724) -chr12 122917323 122975159 12q24 12q24.31 605453 ABCB9 ATP-binding cassette, subfamily B, member 9 ABCB9 23457 ENSG00000150967 Abcb9 (MGI:1861729) -chr12 122980232 122982908 12q24.31 12q24.31 607668 ARL6IP4 ADP ribosylation factor-like GTPase 6 interacting protein 4 ARL6IP4 51329 ENSG00000182196 Arl6ip4 (MGI:1929500) -chr12 123233435 123257959 12q24.31 12q24.31 613541 MTRFR, C12orf65, COXPD7, SPG55 Mitochondrial translation release factor in rescue MTRFR 91574 ENSG00000130921 Spastic paraplegia 55, autosomal recessive, 615035 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 7, 613559 (3), Autosomal recessive Mtrfr (MGI:1919900) -chr12 123152323 123244013 Chr.12 12q24.31 605501 MPHOSPH9, MPP9 M-phase phosphoprotein 9 MPHOSPH9 10198 ENSG00000051825 Mphosph9 (MGI:2443138) -chr12 123260975 123272239 12q24.31 12q24.31 602198 CDK2AP1, DOC1 CDK-associated protein 1 (deleted in oral cancer-1) CDK2AP1 8099 ENSG00000111328 Cdk2ap1 (MGI:1202069) -chr12 123289108 123364846 12q24.31 12q24.31 614274 SBNO1 Strawberry notch, Drosophila, homolog of, 1 SBNO1 55206 ENSG00000139697 Sbno1 (MGI:2384298) -chr12 123384131 123409352 12q24.31 12q24.31 607240 KMT5A, SET8 Lysine methyltransferase 5A KMT5A 387893 ENSG00000183955 Kmt5a (MGI:1915206) -chr12 123409889 123436683 12q24.31 12q24.31 614093 RILPL2, RLP2 RAB-interacting lysosomal protein-like 2 RILPL2 196383 ENSG00000150977 Rilpl2 (MGI:1933112) -chr12 123470053 123533718 12q24.31 12q24.31 614092 RILPL1, RLP1, GOSPEL RAB-interacting lysosomal protein-like 1 RILPL1 353116 ENSG00000188026 Rilpl1 (MGI:1922945) -chr12 123620405 123633685 12q24.31 12q24.31 606686 EIF2B1, EIF2BA Eukaryotic translation initiation factor 2B, subunit 1 EIF2B1 1967 ENSG00000111361 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive Eif2b1 (MGI:2384802) -chr12 123633828 123662603 12q24.31 12q24.31 601750 GTF2H3, TFB4 General transcription factor IIH, polypeptide 3 GTF2H3 2967 ENSG00000111358 Gtf2h3 (MGI:1277143) -chr12 123671107 123708404 12q24.31 12q24.31 613846 TCTN2, TECT2, MKS8, JBTS24 Tectonic family, member 2 TCTN2 79867 ENSG00000168778 mutation identified in 1 MKS8 family Joubert syndrome 24, 616654 (3), Autosomal recessive; ?Meckel syndrome 8, 613885 (3), Autosomal recessive Tctn2 (MGI:1915228) -chr12 123712352 123761754 12q24.3 12q24.31 611716 ATP6V0A2, WSS, ARCL2A ATPase, H+ transporting, V0 subunit A2 ATP6V0A2 23545 ENSG00000185344 Wrinkly skin syndrome, 278250 (3), Autosomal recessive; Cutis laxa, autosomal recessive, type IIA, 219200 (3), Autosomal recessive Atp6v0a2 (MGI:104855) -chr12 123761994 123935719 12q24.31 12q24.31 605884 DNAH10 Dynein, axonemal, heavy chain 10 DNAH10 196385 ENSG00000197653 previously assigned to 13q14 Dnah10 (MGI:1860299) -chr12 123973214 124015426 12q24.2 12q24.31 617890 ZNF664, ZFOC1 Zinc finger protein 664 ZNF664 144348 ENSG00000179195 Zfp664 (MGI:2442505) -chr12 124289163 124316023 12q24.31 12q24.31 615927 FAM101A, CFM2 Family with sequence similarity 101, member A RFLNA 144347 ENSG00000178882 Rflna (MGI:1920371) -chr12 124324414 124567611 12q24 12q24.31 600848 NCOR2, SMRT Nuclear receptor corepressor 2 NCOR2 9612 ENSG00000196498 Ncor2 (MGI:1337080) -chr12 124776855 124863863 12q24.31 12q24.31 601040 SCARB1, CD36L1, CLA1, HDLQTL6 Scavenger receptor class B, member 1 (CD36 antigen-like 1) SCARB1 949 ENSG00000073060 [High density lipoprotein cholesterol level QTL6], 610762 (3) Scarb1 (MGI:893578) -chr12 124911645 124914649 12q24.3 12q24.31 191340 UBC Ubiquitin C UBC 7316 ENSG00000150991 Ubc (MGI:98889) -chr12 124946823 124989130 12q24.31 12q24.31 617362 DHX37, KIAA1517, NEDBAVC, SRXY11 DEAH-box helicase 37 DHX37 57647 ENSG00000150990 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731 (3), Autosomal recessive; 46, XY sex reversal 11, 273250 (3), Autosomal dominant Dhx37 (MGI:3028576) -chr12 124993644 125051844 12q24.31 12q24.31 615627 BRI3BP BRI3-binding protein BRI3BP 140707 ENSG00000184992 Bri3bp (MGI:1924059) -chr12 125025442 125027422 12q24.31 12q24.31 615622 THRIL, LINC1992, BRI3BPAS1 TNF- and HNRNPL-related immunoregulatory long noncoding RNA THRIL 102659353 ENSG00000280634 -chr12 125065434 125143326 12q24.31 12q24.31 614364 AACS, ACSF1 Acetoacetyl-CoA synthetase AACS 65985 ENSG00000081760 Aacs (MGI:1926144) -chr12 128700000 133275309 12q24 612011 CELIAC13 Celiac disease, susceptibility to, 13 100188875 associated with rs3184504 {Celiac disease, susceptibility to, 13}, 612011 (2) -chr12 128700000 133275309 12q24 608447 CIMT Carotid intimal medial thickness 404677 161cM from pter; near SCARB1 Carotid intimal medial thickness, 608447 (2) -chr12 128700000 133275309 12q24 607411 PDA1 Patent ductus arteriosus 100996949 {Patent ductus arteriosus, susceptibility to}, 607411 (2), Autosomal recessive -chr12 128700000 133275309 12q24 608437 SLEB4 Systemic lupus erythematosus, susceptibility to, 4 404714 {Systemic lupus erythematosus, susceptibility to, 4}, 608437 (2) -chr12 128793193 128823965 12q24.32 12q24.33 615806 SLC15A4, PHT1, PTR4 Solute carrier family 15 (oligopeptide transporter), member 4 SLC15A4 121260 ENSG00000139370 Slc15a4 (MGI:2140796) -chr12 129071725 129904024 12q24.3 12q24.33 611257 TMEM132D, KIAA1944, MOLT Transmembrane protein 132D TMEM132D 121256 ENSG00000151952 Tmem132d (MGI:3044963) -chr12 130162463 130165739 12q24.33 12q24.33 606147 FZD10 Frizzled class receptor 10 FZD10 11211 ENSG00000111432 Fzd10 (MGI:2136761) -chr12 130396132 130716298 12q24.33 12q24.33 611602 RIMBP2, KIAA0318 RIMS-binding protein 2 RIMBP2 23504 ENSG00000060709 Rimbp2 (MGI:2443235) -chr12 130337886 130412707 Chr.12 12q24.33 605571 PIWIL1 Piwi, Drosophila, homolog of PIWIL1 9271 ENSG00000125207 Piwil1 (MGI:1928897) -chr12 130789599 130839273 12q24.33 12q24.33 132350 STX2, EPIM, STX2C, STX2B, STX2A Epimorphin (syntaxin 2) STX2 2054 ENSG00000111450 Stx2 (MGI:108059) -chr12 130871878 130877677 12q24.3 12q24.33 601179 RAN, ARA24 Ras-related nuclear protein RAN 5901 ENSG00000132341 1700009N14Rik,Rasl2-9,Ran (MGI:104605,MGI:1333112,MGI:1922721) -chr12 130953906 131141468 12q24.33 12q24.33 613639 ADGRD1, GPR133, PGR25 Adhesion G protein-coupled receptor D1 ADGRD1 283383 ENSG00000111452 Adgrd1 (MGI:3041203) -chr12 131711087 131799737 12q24.33 12q24.33 601945 SFSWAP, SFRS8, SWAP Splicing factor, suppressor-of-white-apricot family SFSWAP 6433 ENSG00000061936 Sfswap (MGI:101760) -chr12 131828392 131851770 12q24.33 12q24.33 602285 MMP17 Matrix metalloproteinase 17 MMP17 4326 ENSG00000198598 Mmp17 (MGI:1346076) -chr12 131894621 131923149 12q24.3 12q24.33 603168 ULK1, UNC51 UNC51-like kinase 1 ULK1 8408 ENSG00000177169 Ulk1 (MGI:1270126) -chr12 131929267 131945895 12q24.33 12q24.33 608109 PUS1, MLASA1 Pseudourine synthase 1 PUS1 80324 ENSG00000177192 Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3), Autosomal recessive Pus1 (MGI:1929237) -chr12 131949941 132080459 12q24.33 12q24.33 606265 EP400, TNRC12, KIAA1498 p400 SWI2/SNF2-related protein EP400 57634 ENSG00000183495 Ep400 (MGI:1276124) -chr12 132144420 132152467 12q24.33 12q24.33 612819 NOC4L, NOC4 Nucleolar complex-associated protein 4 homolog NOC4L 79050 ENSG00000184967 Noc4l (MGI:2140843) -chr12 132196371 132329588 12q24.33 12q24.33 606251 GALNT9, GALNACT9 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 GALNT9 50614 ENSG00000182870 REc Galnt9 (MGI:2677965) -chr12 132471570 132476637 12q24.3 12q24.33 601932 MUC8 Mucin 8, tracheobronchial MUC8 100129528 -chr12 132618775 132623735 12q24.33 12q24.33 600844 P2RX2, P2X2, DFNA41 Purinergic receptor P2X, ligand-gated ion channel, 2 P2RX2 22953 ENSG00000187848 Deafness, autosomal dominant 41, 608224 (3), Autosomal dominant P2rx2 (MGI:2665170) -chr12 132623757 132687518 12q24.3 12q24.33 174762 POLE, CRCS12, FILS, IMAGEI Polymerase, DNA, epsilon POLE 5426 ENSG00000177084 {Colorectal cancer, susceptibility to, 12}, 615083 (3), Autosomal dominant; FILS syndrome, 615139 (3), Autosomal recessive; IMAGE-I syndrome, 618336 (3), Autosomal recessive Pole (MGI:1196391) -chr12 132687586 132704984 12q24.33 12q24.33 617399 PXMP2 Peroxisomal membrane protein 2 PXMP2 5827 ENSG00000176894 Pxmp2 (MGI:107487) -chr12 132710841 132722733 12q24.33 12q24.33 614939 PGAM5 Phosphogycerate mutase family, member 5 PGAM5 192111 ENSG00000247077 Pgam5 (MGI:1919792) -chr12 132725502 132761831 12q24.33 12q24.33 616062 ANKLE2, LEM4, KIAA0692, MCPH16 Ankyrin repeat- and LEM domain-containing protein 2 ANKLE2 23141 ENSG00000176915 Microcephaly 16, primary, autosomal recessive, 616681 (3), Autosomal recessive Ankle2 (MGI:1261856) -chr12 132768912 132829130 12q24.33 12q24.33 602581 GOLGA3 Golgin A3 GOLGA3 2802 ENSG00000090615 Golga3 (MGI:96958) -chr12 132832355 132887617 12q24.33 12q24.33 605209 CHFR Checkpoint protein with FHA and ring-finger domains CHFR 55743 ENSG00000072609 Chfr (MGI:2444898) -chr12 132986364 133027101 12q24.33 12q24.33 194537 ZNF26 Zinc finger protein-26 (KOX20) ZNF26 7574 ENSG00000198393 -chr12 133037300 133063298 12q24.33 12q24.33 618554 ZNF84, HPF2 Zinc finger protein 84 ZNF84 7637 ENSG00000198040 -chr12 133079469 133107525 12q24.32-q24.33 12q24.33 604082 ZNF140 Zinc finger protein-140 ZNF140 7699 ENSG00000196387 -chr12 133130626 133159464 12q13-qter 12q24.33 194538 ZNF10, KOX1 Zinc finger protein-10 (KOX 1) ZNF10 7556 ENSG00000256223 same 300kb fragment as ZNF26 -chr12 133181494 133214831 12q24.3 12q24.33 604753 ZNF268 Zinc finger protein 268 ZNF268 10795 ENSG00000090612 Zfp268 (MGI:3651014) -chr12 0 133275309 Chr.12 191120 TUBAL1 Tubulin, alpha-like-1 -chr13 0 27200000 13pter-q12.13 610158 FECD2, FCD1 Corneal dystrophy, Fuchs endothelial, 2 100188278 max lod at D13S1304 Corneal dystrophy, Fuchs endothelial, 2, 610158 (2), Autosomal dominant -chr13 4600000 10100000 13p12 180450 RNR1 Ribosomal RNA-1 RNR1 6052 -chr13 17700000 114364328 13q 604595 CLQTL1, CLF Cholesterol level quantitative trait locus 1 54501 [Cholesterol level QTL 1], 604595 (2) -chr13 18900000 22600000 13q12.11 612312 ADHD6 Attention deficit-hyperactivity disorder, susceptibility to, 6 100190791 max lod at rs1974047 {Attention deficit-hyperactivity disorder, susceptibility to, 6}, 612312 (2) -chr13 18900000 22600000 13q12.11 609384 CFEOM3C, FEOM4 Fibrosis of extraocular muscles, congenital, 3C Fibrosis of extraocular muscles, congenital, 3C, 609384 (2), Autosomal dominant -chr13 19173771 19181823 13q11 13q12.11 602528 TUBA2 Tubulin, alpha 2 TUBA3C 7278 ENSG00000198033 -chr13 19422876 19561573 13q12.11 13q12.11 606791 TPTE2, TPIP Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 TPTE2 93492 ENSG00000132958 Tpte (MGI:2446460) -chr13 19633647 19673440 13q12.11 13q12.11 611626 MPHOSPH8, TWA3 M-phase phosphoprotein 8 MPHOSPH8 54737 ENSG00000196199 Mphosph8 (MGI:1922589) -chr13 19674751 19782944 13q12.11 13q12.11 612408 PSPC1, PSP1 Paraspeckle component 1 PSPC1 55269 ENSG00000121390 Pspc1 (MGI:1913895) -chr13 19823481 19863648 13q12.11 13q12.11 616443 ZMYM5, ZNF237, ZNF198L1 Zinc finger, MYM-type 5 ZMYM5 9205 ENSG00000132950 Zmym5 (MGI:3041170) -chr13 19957422 20089114 13q12.11 13q12.11 602221 ZMYM2, ZNF198, RAMP, FIM Zinc finger, MYM-type 2 ZMYM2 7750 ENSG00000121741 Zmym2 (MGI:1923257) -chr13 20138251 20161326 13q11 13q12.11 121015 GJA3, CX46, CZP3, CAE3, CTRCT14 Gap junction protein, alpha-3, 46kD (connexin 46) GJA3 2700 ENSG00000121743 Cataract 14, multiple types, 601885 (3), Autosomal dominant Gja3 (MGI:95714) -chr13 20187469 20192937 13q11-q12 13q12.11 121011 GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID, BAPS Gap junction protein, beta-2, 26kD (connexin 26) GJB2 2706 ENSG00000165474 Keratoderma, palmoplantar, with deafness, 148350 (3), Autosomal dominant; Deafness, autosomal recessive 1A, 220290 (3), Digenic dominant, Autosomal recessive; Deafness, autosomal dominant 3A, 601544 (3), Autosomal dominant; Hystrix-like ichthyosis with deafness, 602540 (3), Autosomal dominant; Bart-Pumphrey syndrome, 149200 (3), Autosomal dominant; Keratitis-ichthyosis-deafness syndrome, 148210 (3), Autosomal dominant; Vohwinkel syndrome, 124500 (3), Autosomal dominant Gjb2 (MGI:95720) -chr13 20221961 20232318 13q12 13q12.11 604418 GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2 Gap junction protein, beta-6 (connexin-30) GJB6 10804 ENSG00000121742 Ectodermal dysplasia 2, Clouston type, 129500 (3), Autosomal dominant; Deafness, autosomal dominant 3B, 612643 (3), Autosomal dominant; Deafness, autosomal recessive 1B, 612645 (3), Autosomal recessive; Deafness, digenic GJB2/GJB6, 220290 (3), Digenic dominant, Autosomal recessive Gjb6 (MGI:107588) -chr13 20403668 20525856 13q12.11 13q12.11 609877 CRYL1 Crystallin, lambda-1 CRYL1 51084 ENSG00000165475 Cryl1 (MGI:1915881) -chr13 20566445 20691443 13q12.1 13q12.11 600595 IFT88, D13S1056E, TG737 Intraflagellar transport 88 IFT88 8100 ENSG00000032742 Ift88 (MGI:98715) -chr13 20701512 20723097 13q12.11 13q12.11 607587 IL17D Interleukin 17D IL17D 53342 ENSG00000172458 ?associated with Hodgkin lymphoma Il17d (MGI:2446510) -chr13 20728730 20773960 13q12.11 13q12.11 617793 EEF1AKMT1, N6AMT2 EEF1A lysine methyltransferase 1 EEF1AKMT1 221143 ENSG00000150456 Eef1akmt1 (MGI:1915293) -chr13 20777328 20902773 13q12.11 13q12.11 611449 XPO4, KIAA1721 Exportin 4 XPO4 64328 ENSG00000132953 Xpo4 (MGI:1888526) -chr13 20973035 21061585 13q11-q12 13q12.11 604861 LATS2 Large tumor suppressor kinase 2 LATS2 26524 ENSG00000150457 Lats2 (MGI:1354386) -chr13 21140513 21149084 13q12.11 13q12.11 602949 SAP18 Sin3-associated polypeptide, 18kD SAP18 10284 ENSG00000150459 Sap18 (MGI:1277978) -chr13 21153594 21176564 13q12.11 13q12.11 619247 SKA3, C13orf3 Spindle- and kinetochore-associated complex, subunit 3 SKA3 221150 ENSG00000165480 Ska3 (MGI:3041235) -chr13 21176648 21179083 13q12.11 13q12.11 611997 MRP63 Mitochondrial ribosomal protein 63 MRPL57 78988 ENSG00000173141 10 pseudogenes Mrpl57 (MGI:1915090) -chr13 21372570 21459345 13q12.11 13q12.11 617972 ZDHHC20, DHHC20 Zinc finger DHHC domain-containing protein 20 ZDHHC20 253832 ENSG00000180776 Zdhhc20 (MGI:1923215) -chr13 21492690 21604204 13q12.11 13q12.11 610632 MICU2, EFHA1 Mitochondrial calcium uptake protein 2 MICU2 221154 ENSG00000165487 Micu2 (MGI:1915764) -chr13 21671072 21704500 13q11-q12 13q12.11 600921 FGF9, SYNS3 Fibroblast growth factor-9 (glia-activating factor) FGF9 2254 ENSG00000102678 Multiple synostoses syndrome 3, 612961 (3), Autosomal dominant Fgf9 (MGI:104723) -chr13 22600000 24900000 13q12.12 614166 MYP20 Myopia 20, autosomal dominant 100682326 associated with rs9318086 Myopia 20, autosomal dominant, 614166 (2) -chr13 23160507 23325161 13q12 13q12.12 608896 SGCG, LGMDR5, DMDA1, SCG3 Sarcoglycan, gamma (35kD dystrophin-associated glycoprotein) SGCG 6445 ENSG00000102683 Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3), Autosomal recessive Sgcg (MGI:1346524) -chr13 23328826 23433727 13q12 13q12.12 604490 SACS, ARSACS Sacsin SACS 26278 ENSG00000151835 Spastic ataxia, Charlevoix-Saguenay type, 270550 (3), Autosomal recessive Sacs (MGI:1354724) -chr13 23570247 23676092 13q12.11-q12.3 13q12.12 606122 TAJ, TROY Toxicity and JNK inducer TNFRSF19 55504 ENSG00000127863 Tnfrsf19 (MGI:1352474) -chr13 23730188 23889447 13q12 13q12.12 602241 MIPEP, COXPD31 Mitochondrial intermediate peptidase MIPEP 4285 ENSG00000027001 Combined oxidative phosphorylation deficiency 31, 617228 (3), Autosomal recessive Mipep (MGI:1917728) -chr13 23888867 23892102 13q12.12 13q12.12 617122 C1QTNF9BAS1, PCOTH C1QTNF9B antisense RNA 1 PCOTH 542767 -chr13 23891098 23897501 13q12.12 13q12.12 614148 C1QTNF9B, CTRP9B C1q- and tumor necrosis factor-related protein 9B C1QTNF9B 387911 ENSG00000205863 C1qtnf9 (MGI:3045252) -chr13 23979801 24307068 13q12.12 13q12.12 613324 SPATA13, ASEF2 Spermatogenesis-associated protein 13 SPATA13 221178 ENSG00000182957 Spata13 (MGI:104838) -chr13 24307165 24322530 13q12.12 13q12.12 614285 C1QTNF9A, CTRP9, C1QTNF9 C1q- and tumor necrosis factor-related protein 9A C1QTNF9 338872 ENSG00000240654 C1qtnf9 (MGI:3045252) -chr13 24420929 24512992 13q11 13q12.12 607519 PARP4, ADPRTL1, VPARP, KIAA0177 Poly(ADP-ribose) polymerase 4 PARP4 143 ENSG00000102699 Parp4 (MGI:2685589) -chr13 24680407 24712471 13q12.1-q12.3 13q12.12 182360 ATP12A, ATP1AL1 ATPase, H+/K+ transporting, nongastric, alpha polypeptide ATP12A 479 ENSG00000075673 Atp12a (MGI:1926943) -chr13 24747640 24888815 13q12.1 13q12.12 605793 RNF17 RING finger protein-17 RNF17 56163 ENSG00000132972 Rnf17 (MGI:1353419) -chr13 24882278 24922888 13q12.2 13q12.12-q12.13 609279 CENPJ, CPAP, MCPH6, SCKL4 Centromeric protein J CENPJ 55835 ENSG00000151849 mutation identified in 1 SCKL4 family Microcephaly 6, primary, autosomal recessive, 608393 (3), Autosomal recessive; ?Seckel syndrome 4, 613676 (3), Autosomal recessive Cenpj (MGI:2684927) -chr13 25096135 25099253 13q12.13 13q12.13 604680 PABPC3, PABP3, PABPL3 Polyadenylate-binding protein, cytoplasmic, 3 PABPC3 5042 ENSG00000151846 Pabpc1,Pabpc2 (MGI:1349723,MGI:1349722) -chr13 25161678 25172450 13q12.13 13q12.13 614659 FAM123A, AMER2 Family with sequence similarity 123, member A (APC membrane recruitment protein 2) AMER2 219287 ENSG00000165566 Amer2 (MGI:1919375) -chr13 25246221 25287511 13q12 13q12.13 603561 MTMR6 Myotubularin-related protein 6 MTMR6 9107 ENSG00000139505 Mtmr6 (MGI:2145637) -chr13 25301083 25349794 13q12.1 13q12.13 607615 NUP58, NUPL1, KIAA0410 Nucleoporin 58kDa NUP58 9818 ENSG00000139496 Nupl1 (MGI:1919094) -chr13 25371973 26025850 13q12 13q12.13 605870 ATP8A2, ATPIB, CAMRQ4 ATPase, class I, type 8A, member 2 ATP8A2 51761 ENSG00000132932 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3), Autosomal recessive Atp8a2 (MGI:1354710) -chr13 26044596 26052015 13q12.13 13q12.13 617324 SHISA2, C13orf13, TMEM46 Shisa family, member 2 SHISA2 387914 ENSG00000180730 Shisa2 (MGI:2444716) -chr13 26132114 26223084 13q12.11 13q12.13 604242 RNF6 RING finger protein-6 RNF6 6049 ENSG00000127870 Esophageal carcinoma, somatic, 133239 (3) Rnf6 (MGI:1921382) -chr13 26254124 26405237 13q12 13q12.13 603184 CDK8, IDDHBA Cyclin-dependent kinase 8 CDK8 1024 ENSG00000132964 Intellectual developmental disorder with hypotonia and behavioral abnormalities, 618748 (3), Autosomal dominant Cdk8 (MGI:1196224) -chr13 26539138 26688947 13q12 13q12.13 605068 WASF3, WAVE3, SCAR3 WAS protein family member 3 WASF3 10810 ENSG00000132970 Wasf3 (MGI:2658986) -chr13 26755199 26760785 13q12 13q12.13 600752 GPR12 G protein-coupled receptor-12 GPR12 2835 ENSG00000132975 Gpr12 (MGI:101909) -chr13 27066153 27171810 13q12.13 13q12.13 603091 USP12, UBH1 Ubiquitin-specific protease 12 USP12 219333 ENSG00000152484 Usp12 (MGI:1270128) -chr13 27200000 39500000 13q12.2-q13 157900 MBS, MBS1 Moebius syndrome 4156 ?Moebius syndrome, 157900 (2), Autosomal dominant, Isolated cases -chr13 27251557 27256567 13q12.2 13q12.2 603636 RPL21, HYPT12 Ribosomal protein L21 RPL21 6144 ENSG00000122026 Hypotrichosis 12, 615885 (3), Autosomal dominant Rpl21 (MGI:1278340) -chr13 27270829 27275191 13q12.2 13q12.2 612403 RASL11A RAS-like, family 11, member A RASL11A 387496 ENSG00000122035 Rasl11a (MGI:1916145) -chr13 27424618 27435822 13q12.3-q13.1 13q12.2 600860 GTF3A, TFIIIA General transcription factor IIIA GTF3A 2971 ENSG00000122034 Gtf3a (MGI:1913846) -chr13 27545912 27621105 13q12.2 13q12.2 609733 LNX2, PDZRN1 Ligand of numb protein X2 LNX2 222484 ENSG00000139517 Lnx2 (MGI:2155959) -chr13 27620742 27667414 13q12.2 13q12.2 613715 POLR1D, RPA16, RPAC2, TCS2 Polymerase I, RNA, subunit D POLR1D 51082 ENSG00000186184 Treacher Collins syndrome 2, 613717 (3), Autosomal dominant, Autosomal recessive Polr1d (MGI:108403) -chr13 27792482 27794767 13q12.2 13q12.2 616542 GSX1, GSH1 GS homeobox 1 GSX1 219409 ENSG00000169840 Gsx1 (MGI:95842) -chr13 27919981 27926312 13q12.1 13q12.2 600733 PDX1, IPF1, MODY4, PAGEN1 Pancreas/duodenum homeobox protein 1 PDX1 3651 ENSG00000139515 {Diabetes mellitus, type II, susceptibility to}, 125853 (3), Autosomal dominant; Pancreatic agenesis 1, 260370 (3), Autosomal recessive; MODY, type IV, 606392 (3) Pdx1 (MGI:102851) -chr13 27960917 27969336 13q12.3 13q12.2 600297 CDX2, CDX3 Caudal type homeo box transcription factor 2 CDX2 1045 ENSG00000165556 Cdx2 (MGI:88361) -chr13 27977716 27988692 13q12.2 13q12.2 615804 URAD Ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase URAD 646625 ENSG00000183463 Urad (MGI:3647519) -chr13 28003273 28100586 13q12 13q12.2 136351 FLT3 fms-related tyrosine kinase-3 FLT3 2322 ENSG00000122025 Leukemia, acute lymphoblastic, somatic, 613065 (3); Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3); Leukemia, acute myeloid, somatic, 601626 (3) Flt3 (MGI:95559) -chr13 28135020 28295334 13q12.2 13q12.2 617448 PAN3 PABP-dependent poly(A) nuclease 3 PAN3 255967 ENSG00000152520 Pan3 (MGI:1919837) -chr13 28300000 54700000 13q12-q14 605844 ATOD5 Dermatitis, atopic, 5 117188 max lod at D13S218 {Dermatitis, atopic, susceptibility to, 5}, 605844 (2) -chr13 28300000 31600000 13q12 608557 MCI2 Myocardial infarction, susceptibility to, 2 100233226 defined by 4-SNP haplotype HapA {Myocardial infarction, susceptibility to, 2}, 608557 (2) -chr13 28300345 28495127 13q12 13q12.3 165070 FLT1 fms-related tyrosine kinase-1 (vascular endothelial growth factor/vascular permeability factor receptor) FLT1 2321 ENSG00000102755 150kb from FLT3 Flt1 (MGI:95558) -chr13 28659129 28678958 13q12.3 13q12.3 613386 POMP, UMP1, PRAAS2 Proteasome maturation protein POMP 51371 ENSG00000132963 Proteasome-associated autoinflammatory syndrome 2, 618048 (3), Autosomal dominant; Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3), Autosomal recessive Pomp (MGI:1913787) -chr13 28700079 28718969 13q12.3 13q12.3 616764 SLC46A3 Solute carrier family 46, member 3 SLC46A3 283537 ENSG00000139508 Slc46a3 (MGI:1918956) -chr13 28819962 29505946 13q12.3 13q12.3 619358 MTUS2, TIP150, CAZIP, KIAA0774 Micortubule-associated scaffold protein 2 MTUS2 23281 ENSG00000132938 Mtus2 (MGI:1915388) -chr13 29509409 29595687 13q12.3 13q12.3 104615 SLC7A1, ATRC1 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 SLC7A1 6541 ENSG00000139514 distal to ATP1AL1 Slc7a1 (MGI:88117) -chr13 29764370 29850616 13q12-q13 13q12.3 604711 UBL3 Ubiquitin-like 3 UBL3 5412 ENSG00000122042 Ubl3 (MGI:1344373) -chr13 30200025 30307550 13q12.3 13q12.3 614764 KATNAL1 Katanin p60 subunit A-like 1 KATNAL1 84056 ENSG00000102781 Katnal1 (MGI:2387638) -chr13 30456703 30617596 13q12 13q12.3 163905 HMGB1, HMG1 High-mobility group box 1 (high-mobility group (nonhistone chromosomal) protein 1) HMGB1 3146 ENSG00000189403 Hmgb1,Gm21596 (MGI:5434951,MGI:96113) -chr13 30617858 30660765 13q12.3 13q12.3 617470 USPL1 Ubiquitin-specific peptidase-like 1 USPL1 10208 ENSG00000132952 Uspl1 (MGI:2442342) -chr13 30713484 30764425 13q12 13q12.3 603700 ALOX5AP, FLAP Arachidonate 5-lipoxygenase-activating protein ALOX5AP 241 ENSG00000132965 {Stroke, susceptibility to}, 601367 (3), Multifactorial Alox5ap (MGI:107505) -chr13 31134972 31162387 13q12.3 13q12.3 610703 HSPH1, HSP105, KIAA0201 Heat-shock 105/110kD protein 1 HSPH1 10808 ENSG00000120694 Hsph1 (MGI:105053) -chr13 31199974 31332275 13q12.3 13q12.3 610308 B3GLCT, B3GALTL, B3GTL Beta 3-glucosyltransferase B3GLCT 145173 ENSG00000187676 Peters-plus syndrome, 261540 (3), Autosomal recessive B3glct (MGI:2685903) -chr13 31600000 33400000 13q13.1 612089 HPRHP Hypophosphatemic rickets and hyperparathyroidism 100188880 ?due to altered KLOTHO expression Hypophosphatemic rickets and hyperparathyroidism, 612089 (2), Autosomal dominant -chr13 31739525 31803388 13q13.1 13q13.1 606655 LGR8, GREAT Leucine-rich repeat-containing G protein-coupled receptor 8 RXFP2 122042 ENSG00000133105 Rxfp2 (MGI:2153463) -chr13 32031773 32299124 13q13.1 13q13.1 614818 FRY, C13orf14 FRY microtubule-binding protein FRY 10129 ENSG00000073910 Fry (MGI:2443895) -chr13 32315507 32400267 13q12.3 13q13.1 600185 BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 BRCA2 gene BRCA2 675 ENSG00000139618 Fanconi anemia, complementation group D1, 605724 (3), Autosomal recessive; {Glioblastoma 3}, 613029 (3), Autosomal recessive; {Medulloblastoma}, 155255 (3), Somatic mutation, Autosomal dominant, Autosomal recessive; {Prostate cancer}, 176807 (3), Somatic mutation, Autosomal dominant; {Breast-ovarian cancer, familial, 2}, 612555 (3), Autosomal dominant; {Breast cancer, male, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; {Pancreatic cancer 2}, 613347 (3); Wilms tumor, 194070 (3), Somatic mutation, Autosomal dominant Brca2 (MGI:109337) -chr13 32432484 32542709 13q13.1 13q13.1 615788 N4BP2L2, PFAAP5 NEDD4-binding protein 2-like 2 N4BP2L2 10443 ENSG00000244754 N4bp2l2 (MGI:2687207) -chr13 32586431 32778018 13q12.3 13q13.1 605333 PDS5B, AS3, APRIN PDS5 cohesin-associated factor B PDS5B 23047 ENSG00000083642 Pds5b (MGI:2140945) -chr13 33016062 33066142 13q12 13q13.1 604824 KL, KLOTHO, HFTC3 Klotho KL 9365 ENSG00000133116 mutation identified in 1 HFTC3 patient ?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3), Autosomal recessive Kl (MGI:1101771) -chr13 33103136 33676828 13q12.3 13q13.1-q13.2 609866 STARD13, DLC2 Start domain-containing protein 13 STARD13 90627 ENSG00000133121 Stard13 (MGI:2385331) -chr13 33818074 33973945 13q12.3-q13 13q13.2 600405 RFC3 Replication factor C3, 38kD (activator 1, 38kD) RFC3 5983 ENSG00000133119 Rfc3 (MGI:1916513) -chr13 34900000 54700000 13q13-q14.3 600631 ENUR1 Enuresis, nocturnal, 1 2031 Enuresis, nocturnal, 1, 600631 (2), Autosomal dominant -chr13 34900000 39500000 13q13.3 612796 IBD27 Inflammatory bowel disease 27 100302059 {Inflammatory bowel disease 27}, 612796 (2) -chr13 34900000 72800000 13q13.3-q21 263450 PAPA5 Polydactyly, postaxial, type A5 101241897 between D13S1288 and D13S632 Polydactyly, postaxial, type A5, 263450 (2), Autosomal recessive -chr13 34942269 35672735 13q13.2 13q13.3 604889 NBEA, NEDEGE Neurobeachin NBEA 26960 ENSG00000172915 site of FRA13A Neurodevelopmental disorder with or without early-onset generalized epilepsy, 619157 (3), Autosomal dominant Nbea (MGI:1347075) -chr13 35473788 35476688 13q13 13q13.3 601280 MAB21L1, COFG mab-21 like 1 MAB21L1 4081 ENSG00000180660 Cerebellar, ocular, craniofacial, and genital syndrome, 618479 (3), Autosomal recessive Mab21l1 (MGI:1333773) -chr13 35768651 36131938 13q13 13q13.3 604742 DCLK1, DCAMKL1, CLICK1, CL1, KIAA0369 Doublecortin-like kinase 1 DCLK1 9201 ENSG00000133083 Dclk1 (MGI:1330861) -chr13 36168216 36214555 13q13.3 13q13.3 616066 SOHLH2 Spermatogenesis- and oogenesis-specific basic helix-loop-helix protein 2 SOHLH2 54937 ENSG00000120669 Sohlh2 (MGI:1921684) -chr13 36301637 36370179 13q12.3 13q13.3 607111 SPG20 Spartin SPART 23111 ENSG00000133104 Troyer syndrome, 275900 (3), Autosomal recessive Spg20 (MGI:2139806) -chr13 36430487 36442869 13q12.3-q13 13q13.3 604036 CCNA1 Cyclin A1 CCNA1 8900 ENSG00000133101 Ccna1 (MGI:108042) -chr13 36819221 36829103 13q14 13q13.3 601861 RFXAP Regulatory factor X-associated protein RFXAP 5994 ENSG00000133111 Bare lymphocyte syndrome, type II, complementation group D, 209920 (3), Autosomal recessive Rfxap (MGI:2180854) -chr13 36844830 36920720 13q12-q14 13q13.3 603295 MADH9, SMAD9, MADH6, PPH2 Mothers against decapentaplegic, Drosophila, homolog of, 9 SMAD9 4093 ENSG00000120693 Pulmonary hypertension, primary, 2, 615342 (3), Autosomal dominant Smad9 (MGI:1859993) -chr13 36949737 36999366 13q13.3 13q13.3 604565 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase ALG5 29880 ENSG00000120697 Alg5 (MGI:1913498) -chr13 37000372 37009613 13q13.1 13q13.3 606019 EXOSC8, OIP2, RRP43, PCH1C Exosome component 8 EXOSC8 11340 ENSG00000120699 Pontocerebellar hypoplasia, type 1C, 616081 (3), Autosomal recessive Exosc8 (MGI:1916889) -chr13 37009311 37059713 13q13.3 13q13.3 613417 FAM48A, P38IP, C13orf19 Family with sequence similarity 48, member A SUPT20H 55578 ENSG00000102710 Supt20 (MGI:1929651) -chr13 37562584 37598838 13q13.3 13q13.3 608777 POSTN, OSF2, PN Periostin POSTN 10631 ENSG00000133110 Postn (MGI:1926321) -chr13 37632062 37869771 13q13.1-q13.2 13q13.3 603651 TRPC4, TRP4 Transient receptor potential cation channel, subfamily C, member 4 TRPC4 7223 ENSG00000133107 Trpc4 (MGI:109525) -chr13 38349850 38363618 13q13.3 13q13.3 610553 UFM1, HLD14 Ubiquitin-fold modifier 1 UFM1 51569 ENSG00000120686 Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive Ufm1 (MGI:1915140) -chr13 38687040 38887130 13q13.3 13q13.3 608945 FREM2, FRASRS2, CRYPTOP FRAS1-related extracellular matrix protein 2 FREM2 341640 ENSG00000150893 Fraser syndrome 2, 617666 (3), Autosomal recessive; Cryptophthalmos, unilateral or bilateral, isolated, 123570 (3), Autosomal recessive Frem2 (MGI:2444465) -chr13 38965924 38990830 13q13 13q13.3 608327 STOML3, SRO Stomatin-like protein 3 STOML3 161003 ENSG00000133115 Stoml3 (MGI:2388072) -chr13 39342891 39603192 13q12 13q-q 606710 LHFPL6 LHFPL tetraspan subfamily, member 6 LHFPL6 10186 ENSG00000183722 Lhfp (MGI:1920048) -chr13 39500000 44600000 13q14.11 613407 LPRS6 Leprosy, susceptibility to, 6 100499166 associated with rs9533634 and rs3764147 {Leprosy, susceptibility to, 6}, 613407 (2) -chr13 39655626 39791665 13q13.3 13q14.11 606977 COG6, COD2, KIAA1134, CDG2L, SHNS Component of oligomeric golgi complex 6 COG6 57511 ENSG00000133103 Shaheen syndrome, 615328 (3), Autosomal recessive; Congenital disorder of glycosylation, type IIl, 614576 (3), Autosomal recessive Cog6 (MGI:1914792) -chr13 40347131 40481005 13q14.11 13q14.11 619008 LINC00598, TTL Long intergenic noncoding RNA 598 LINC00598 646982 ENSG00000215483 -chr13 40555666 40666640 13q14.1 13q14.11 136533 FOXO1A, FKHR Forkhead box O1A (forkhead in rhabdomyosarcoma) FOXO1 2308 ENSG00000150907 chimeric with PAX3 in t(2;13); fuses with PAX3 Rhabdomyosarcoma, alveolar, 268220 (3), Somatic mutation Foxo1 (MGI:1890077) -chr13 40729127 40771206 13q13.3 13q14.11 611992 MRPS31 Mitochondrial ribosomal protein S31 MRPS31 10240 ENSG00000102738 4 pseudogenes Mrps31 (MGI:1913153) -chr13 40789610 40812459 13q14 13q14.11 603861 SLC25A15, ORNT1, HHH Solute carrier family 25 (mitochondrial carrier), member 15 (ornithine transporter 1) SLC25A15 10166 ENSG00000102743 with deficiency of factors VII and X in 3 unrelated cases Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3), Autosomal recessive Slc25a15 (MGI:1342274) -chr13 40931918 41061385 13q14.11 13q14.11 189973 ELF1, RIA1, EFTUD1 E74-like factor 1 ELF1 1997 ENSG00000120690 Elf1 (MGI:107180) -chr13 41061508 41084005 13q14.11 13q14.11 604981 WBP4, FBP21 WW domain-containing binding protein 4 WBP4 11193 ENSG00000120688 Wbp4 (MGI:109568) -chr13 41127568 41132801 13q14.11 13q14.11 617738 KBTBD6 Kelch repeat- and BTB domain-containing protein 6 KBTBD6 89890 ENSG00000165572 Kbtbd6 (MGI:3643058) -chr13 41189833 41194568 13q14.11 13q14.11 617739 KBTBD7 Kelch repeat- and BTB domain-containing protein 7 KBTBD7 84078 ENSG00000120696 Kbtbd7 (MGI:2685141) -chr13 41216368 41312037 13q14.1-q14.3 13q14.11 604601 MTRF1 Translational release factor, mitochondrial, 1 MTRF1 9617 ENSG00000120662 Mtrf1 (MGI:2384815) -chr13 41311238 41377030 13q14.11 13q14.11 619497 NAA16, NARG1L N-alpha-acetyltransferase 16, NatA auxiliary subunit NAA16 79612 ENSG00000172766 -chr13 41457410 41470875 13q12-q14 13q14.11 610077 RGC32 Response gene to complement 32 RGCC 28984 ENSG00000102760 Rgcc (MGI:1913464) -chr13 41566834 41961108 13q14.11 13q14.11 617509 VWA8, KIAA0564 von Willebrand factor A domain-containing protein 8 VWA8 23078 ENSG00000102763 Vwa8 (MGI:1919008) -chr13 42040069 42256583 13q14.11 13q14.11 604071 DGKH Diacylglycerol kinase, eta, 130kD DGKH 160851 ENSG00000102780 Dgkh (MGI:2444188) -chr13 42271469 42323265 13q14.11 13q14.11 604696 AKAP11, AKAP220 A-kinase anchor protein 11 AKAP11 11215 ENSG00000023516 Akap11 (MGI:2684060) -chr13 42562735 42608012 13q14 13q14.11 602642 TNFSF11, OPGL, TRANCE, OPTB2 Tumor necrosis factor ligand superfamily, member 11 (osteoprotegerin ligand) TNFSF11 8600 ENSG00000120659 Osteopetrosis, autosomal recessive 2, 259710 (3), Autosomal recessive Tnfsf11 (MGI:1100089) -chr13 42886387 42992270 13q13.3 13q14.11 607441 EPSTI1 Epithelial stromal interaction 1 EPSTI1 94240 ENSG00000133106 Epsti1 (MGI:1915168) -chr13 43023585 43114212 13q14.1 13q14.11 615339 DNAJC15, MCJ DNAJ/HSP40 homolog, subfamily C, member 15 DNAJC15 29103 ENSG00000120675 Dnajc15 (MGI:1913398) -chr13 43213129 43786975 13q14.11 13q14.11 610914 ENOX1, CNOX ECTO-NOX disulfide-thiol exchanger 1 ENOX1 55068 ENSG00000120658 Enox1 (MGI:2444896) -chr13 43821958 43880022 13q14.11 13q14.11 613408 CCDC122 Coiled-coil domain-containing protein 122 CCDC122 160857 ENSG00000151773 Ccdc122 (MGI:1918358) -chr13 43879177 43893931 13q14.11 13q14.11 613409 LACC1, C13orf31, JUVAR Laccase (multicopper reductase) domain-containing protein 1 LACC1 144811 ENSG00000179630 Juvenile arthritis, 618795 (3), Autosomal recessive Lacc1 (MGI:2445077) -chr13 44432142 44576824 13q14 13q14.11 607715 TSC22D1, TSC22 TSC22 domain family, member 1 TSC22D1 8848 ENSG00000102804 Tsc22d1 (MGI:109127) -chr13 44939248 44989482 13q14 13q14.12 604354 NUFIP1, NUFIP Nuclear fragile X mental retardation protein-interacting protein 1 NUFIP1 26747 ENSG00000083635 pseudogene on 6q12 Nufip1 (MGI:1351474) -chr13 45119829 45284892 13q14.12-q14.13 13q14.12-q14.13 189969 GTF2F2, TF2F2, RAP30 General transcription factor IIF, polypeptide 2, 30kD GTF2F2 2963 ENSG00000188342 Gtf2f2 (MGI:1915955) -chr13 45333470 45341182 13q12-q14 13q14.13 600763 TPT1, HRF Tumor protein, translationally-controlled 1 TPT1 7178 ENSG00000133112 Tpt1 (MGI:104890) -chr13 45337479 45337608 13q14.13 13q14.13 619378 SNORA31, IIAE10 Small nucleolar RNA, H/ACA box, 31 SNORA31 677814 ENSG00000199477 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}, 619396 (3), Autosomal dominant -chr13 45393315 45434015 13q14.11 13q14.13 610793 SLC25A30, KMCP1 Solute carrier family 25 (mitochondrial carrier, kidney), member 30 SLC25A30 253512 ENSG00000174032 Slc25a30 (MGI:1914804) -chr13 45464915 45536700 13q14.12 13q14.13 606975 COG3, SEC34 Component of oligomeric golgi complex 3 COG3 83548 ENSG00000136152 Cog3 (MGI:2450151) -chr13 45701029 45714558 13q14.13 13q14.13 618614 CBY2, NURIT, SPERT Chibby family, member 2 CBY2 220082 ENSG00000174015 Cby2 (MGI:1915176) -chr13 45777241 45851752 13q14.12 13q14.13 615609 SIAH3 SIAH E3 ubiquitin protein ligase family, member 3 SIAH3 283514 ENSG00000215475 Siah3 (MGI:2685758) -chr13 45954464 46052793 13q14.13 13q14.13 616453 ZC3H13, KIAA0853 Zinc finger CCCH domain-containing protein 13 ZC3H13 23091 ENSG00000123200 Zc3h13 (MGI:1914552) -chr13 46053065 46105032 13q14.11 13q14.13 603101 CPB2, CPU, TAFI Carboxypeptidase B2, plasma (carboxypeptidase U) CPB2 1361 ENSG00000080618 Cpb2 (MGI:1891837) -chr13 46125922 46182176 13q14.1-q14.3 13q14.13 153430 LCP1 Lymphocyte cytosolic protein-1 (plasmin) LCP1 3936 ENSG00000136167 Lcp1 (MGI:104808) -chr13 46553169 46753040 13q14 13q14.1-q14.2 610368 LRCH1, KIAA1016 Leucine-rich repeats and calponin homology domain-containing 1 LRCH1 23143 ENSG00000136141 Lrch1 (MGI:2443390) -chr13 46700000 46700000 13q14.2-q14.1 608049 AUTS3 Autism, susceptibility to, 3 387577 {Autism susceptibility 3}, 608049 (2), Multifactorial, Isolated cases -chr13 46771255 46797699 13q14.11 13q14.2 133280 ESD Esterase D; S-formylglutathione hydrolase ESD 2098 ENSG00000139684 proximal to RB1, WND Esd (MGI:95421) -chr13 46831545 46898081 13q14-q21 13q14.2 182135 HTR2A 5-hydroxytryptamine (serotonin) receptor-2A HTR2A 3356 ENSG00000102468 {Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial; {Anorexia nervosa, susceptibility to}, 606788 (3); {Major depressive disorder, response to citalopram therapy in}, 608516 (3); {Seasonal affective disorder, susceptibility to}, 608516 (3); {Obsessive-compulsive disorder, susceptibility to}, 164230 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant Htr2a (MGI:109521) -chr13 47942655 48001272 13q14.2 13q14.2 603921 SUCLA2, MTDPS5 Succinate-CoA ligase, ADP-forming, beta subunit SUCLA2 8803 ENSG00000136143 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3), Autosomal recessive Sucla2 (MGI:1306775) -chr13 48037725 48052754 13q14.2 13q14.2 615792 NUDT15, MTH2, NUDT15D Nucleoside diphosphate-linked moiety X motif 15 NUDT15 55270 ENSG00000136159 {Thiopurines, poor metabolism of, 2}, 616903 (3), Autosomal dominant Nudt15 (MGI:2443366) -chr13 48075723 48095103 13q14.2 13q14.2 605718 MED4, DRIP36, HSPC126 Mediator of RNA polymerase II transcription, subunit 4, S. cerevisiae, homolog of MED4 29079 ENSG00000136146 Med4 (MGI:1914631) -chr13 48233205 48270356 13q14 13q14.2 603904 ITM2B, BRI, ABRI, FBD, RDGCA Integral membrane protein 2B (BRI gene) ITM2B 9445 ENSG00000136156 mutation identified in 1 RDGCA family ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3), Autosomal dominant; Dementia, familial British, 176500 (3), Autosomal dominant; Dementia, familial Danish, 117300 (3), Autosomal dominant Itm2b (MGI:1309517) -chr13 48303750 48481889 13q14.1-q14.2 13q14.2 614041 RB1 Retinoblastoma-1 RB1 5925 ENSG00000139687 Small cell cancer of the lung, somatic, 182280 (3); Bladder cancer, somatic, 109800 (3); Retinoblastoma, trilateral, 180200 (3), Somatic mutation, Autosomal dominant; Osteosarcoma, somatic, 259500 (3); Retinoblastoma, 180200 (3), Somatic mutation, Autosomal dominant Rb1 (MGI:97874) -chr13 48400896 48444668 13q14.12-q14.2 13q14.2 609239 LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8 Lysophosphatidic acid receptor 6 LPAR6 10161 ENSG00000139679 in intron 17 of RB gene Hypotrichosis 8, 278150 (3), Autosomal recessive; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3), Autosomal recessive Lpar6 (MGI:1914418) -chr13 48488962 48535996 13q14.3 13q14.2 603524 RCBTB2, CHC1L RCC1 domain- and BTB domain-containing protein 2 RCBTB2 1102 ENSG00000136161 Rcbtb2 (MGI:1917200) -chr13 48653928 48711225 13q14 13q14.2 605666 CYSLTR2, CYSLT2 Cysteinyl leukotriene receptor 2 CYSLTR2 57105 ENSG00000152207 Cysltr2 (MGI:1917336) -chr13 48975240 49209778 13q14.2 13q14.2 615794 FNDC3A, KIAA0970, HUGO Fibronectin type III domain-containing protein 3A FNDC3A 22862 ENSG00000102531 Fndc3a (MGI:1196463) -chr13 49220337 49222376 13q14-q21 13q14.2 602885 MLNR, GPR38 Motilin receptor MLNR 2862 ENSG00000102539 -chr13 49247874 49293485 13q14.2 13q14.2 618997 CDADC1 Cytidine and deoxycytidylate deaminase domain-containing protein 1 CDADC1 81602 ENSG00000102543 Cdadc1 (MGI:1919141) -chr13 49308649 49444850 13q14.2 13q14.2 612175 CAB39L Calcium-binding protein 39-like protein CAB39L 81617 ENSG00000102547 Cab39l (MGI:1914081) -chr13 49444273 49495002 13q14 13q14.2 607865 SETDB2, CLLD8 SET domain protein, bifurcated, 2 SETDB2 83852 ENSG00000136169 Setdb2 (MGI:2685139) -chr13 49495952 49528991 13q14.1 13q14.2 607796 PHF11, NYREN34 PHD finger protein 11 PHF11 51131 ENSG00000136147 Phf11,Phf11b,Phf11c,Phf11d,Phf11a (MGI:3645789,MGI:1277133,MGI:1918441,MGI:3648476,MGI:3644962) -chr13 49531943 49585586 13q14 13q14.2 607867 RCBTB1, CLLD7, GLP, RDEOA RCC1 domain- and BTB domain-containing protein 1 RCBTB1 55213 ENSG00000136144 Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive Rcbtb1 (MGI:1918580) -chr13 49628455 49633871 13q14.3 13q14.2 609351 ARL11, ARLTS1 ADP ribosylation factor-like GTPase 11 ARL11 115761 ENSG00000152213 Arl11 (MGI:2444054) -chr13 49660673 49691486 13q14.2 13q14.2 617335 EBPL Emopamil-binding protein-like EBPL 84650 ENSG00000123179 Ebpl (MGI:1915427) -chr13 49699306 49792681 13q14.3 13q14.2 601892 KPNA3 Karyopherin (importin) alpha-3 KPNA3 3839 ENSG00000102753 Kpna3 (MGI:1100863) -chr13 49912701 49936500 13q14 13q14.2 607866 CLLD6, C13orf1 Chronic lymphocytic leukemia deletion region gene 6 SPRYD7 57213 ENSG00000123178 Spryd7 (MGI:1913924) -chr13 49982548 50125540 13q14 13q14.2 605766 DLEU2, LEU2, BCMSUN Deleted in lymphocytic leukemia 2 DLEU2 8847 ENSG00000231607 -chr13 49997041 50018466 13q14.3 13q14.2 605661 TRIM13, RFP2, LEU5 Tripartite motif-containing protein 13 TRIM13 10206 ENSG00000204977 Kcnrg,Trim13 (MGI:1913847,MGI:2685591) -chr13 50015443 50020921 13q14.3 13q14.2 607947 KCNRG, DLTET Potassium channel regulator KCNRG 283518 ENSG00000198553 Kcnrg (MGI:2685591) -chr13 50048972 50049060 13q14.3 13q14.2 609704 MIR16-1, MIRN16-1 Micro RNA 16-1 MIR16-1 406950 ENSG00000208006 Mir16-1 (MGI:2676843) -chr13 50049118 50049200 13q14.3 13q14.2 609703 MIR15A, MIRN15A Micro RNA 15A MIR15A 406948 ENSG00000283785 Mir15a (MGI:2676841) -chr13 50082168 50528642 13q14 13q14.2-q14.3 605765 DLEU1, LEU1 Deleted in lymphocytic leukemia 1 DLEU1 10301 ENSG00000176124 -chr13 50300000 54700000 13q14 606643 BMIQ2 Body mass index quantitative trait locus 2 192149 max lod at D13S257 [Body mass index QTL2], 606643 (2) -chr13 50300000 54700000 13q14 612110 BMND9 Bone mineral density quantitative trait locus 9 100188882 associated with rs9594759 [Bone mineral density QTL 9], 612110 (2) -chr13 50300000 54700000 13q14 109543 CLLS2, D13S25, DBM Leukemia, chronic lymphocytic, susceptibility to, 2 8101 >530kb telomeric to RB1 {Leukemia, chronic lymphocytic, susceptibility to, 2}, 109543 (2), Autosomal dominant -chr13 50300000 54700000 13q14 613884 DEL13q14, C13DELq14 Chromosome 13q14 deletion syndrome Chromosome 13q14 deletion syndrome, 613884 (4), Autosomal dominant, Isolated cases -chr13 50300000 54700000 13q14 109350 GER Gastroesophageal reflux 59330 Gastroesophageal reflux, 109350 (2), Autosomal dominant -chr13 50300000 54700000 13q14 601499 RIEG2, RGS2 Rieger syndrome, type 2 6012 Rieger syndrome, type 2, 601499 (2), Autosomal dominant -chr13 50300000 54700000 13q14 607584 SPG24 Spastic paraplegia 24, autosomal recessive 338090 Spastic paraplegia 24, autosomal recessive, 607584 (2), Autosomal recessive -chr13 50300000 54700000 13q14.3 612894 STQTL20 Stature quantitative trait locus 20 100302685 associated with rs3118914 {Stature QTL 20}, 612894 (2) -chr13 50300000 54700000 13q14 194370 XRS X-ray sensitivity 8102 -chr13 50711025 50843944 13q14 13q14.3 618634 DLEU7 Deleted in lymphocytic leukemia 7 DLEU7 220107 ENSG00000186047 Dleu7 (MGI:2447771) -chr13 50909677 50970461 13q14.1 13q14.3 610326 RNASEH2B, DLEU8, FLJ11712, AGS2 Ribonuclease H2, subunit B RNASEH2B 79621 ENSG00000136104 Aicardi-Goutieres syndrome 2, 610181 (3), Autosomal recessive Rnaseh2b (MGI:1914403) -chr13 50994510 51066156 13q14.3 13q14.3 603695 GUCY1B2 Guanylate cyclase 1, soluble, beta-2 GUCY1B2 2974 ENSG00000123201 -chr13 51353170 51453332 13q14.3 13q14.3 604331 INTS6, DDX26, DICE1 Integrator complex subunit 6 INTS6 26512 ENSG00000102786 Ints6 (MGI:1202397) -chr13 51584193 51767708 13q14.3 13q14.3 610418 WDFY2 WD repeat- and FYVE domain-containing protein 2 WDFY2 115825 ENSG00000139668 Wdfy2 (MGI:2442811) -chr13 51767992 51804162 13q14.3 13q14.3 616163 DHRS12, SDR40C1 Short-chain dehydrogenase reductase family, member 12 DHRS12 79758 ENSG00000102796 -chr13 51907819 51910695 13q14-q21 13q14.3 608857 CTAGE3 Cutaneous T-cell lymphoma-associated antigen 3 CTAGE3P 220112 ENSG00000232872 -chr13 51932668 52012129 13q14.3-q21.1 13q14.3 606882 ATP7B, WND ATPase, Cu++ transporting, beta polypeptide ATP7B 540 ENSG00000123191 Wilson disease, 277900 (3), Autosomal recessive Atp7b (MGI:103297) -chr13 52012397 52033599 13q14.3 13q14.3 613666 ALG11, KIAA1266, CDG1P ALG11 alpha-1,2-mannosyltransferase ALG11 440138 ENSG00000253710 Congenital disorder of glycosylation, type Ip, 613661 (3), Autosomal recessive Alg11 (MGI:2142632) -chr13 52024690 52033599 13q14.3 13q14.3 608969 UTP14C, UTP14B, KIAA0266 UTP14C small subunit processome component UTP14C 9724 ENSG00000253797 pseudogene on chr.2 Utp14b,Utp14a (MGI:2445092,MGI:1919804) -chr13 52033610 52129072 13q14.3 13q14.3 616731 NEK5 NIMA-related kinase 5 NEK5 341676 ENSG00000197168 Nek5 (MGI:2142824) -chr13 52132646 52159596 13q14.2 13q14.3 604044 NEK3 Never in mitosis gene A-related kinase 3 NEK3 4752 ENSG00000136098 Nek3 (MGI:1344371) -chr13 52377166 52406171 13q14.3 13q14.3 616821 THSD1, TMTSP, ANIB12 Thrombospondin type 1 domain-containing protein 1 THSD1 55901 ENSG00000136114 mutation identified in 1 ANIB12 family ?Aneurysm, intracranial berry, 12, 618734 (3), Autosomal dominant Thsd1 (MGI:1929096) -chr13 52412605 52450633 13q14.3 13q14.3 610903 VPS36, EAP45 Vacuolar protein sorting 36 homolog VPS36 51028 ENSG00000136100 Vps36 (MGI:1917410) -chr13 52455428 52476626 13q14 13q14.3 611569 CKAP2, TMAP, LB1 Cytoskeleton-associated protein 2 CKAP2 26586 ENSG00000136108 Ckap2 (MGI:1931797) -chr13 52652702 52700908 13q14.3 13q14.3 604098 SUGT1, SGT1 Suppressor of G2 allele of Skp1, S. Cerevisiae, homolog of SUGT1 10910 ENSG00000165416 Sugt1 (MGI:1915205) -chr13 52703263 52739819 13q14-q21 13q14.3 605147 LECT1, CHM1 Leukocyte cell derived chemotaxin 1 (chondromodulin) CNMD 11061 ENSG00000136110 Cnmd (MGI:1341171) -chr13 52842888 52848639 13q14.3 13q14.3 603580 PCDH8 Protocadherin 8 PCDH8 5100 ENSG00000136099 Pcdh8 (MGI:1306800) -chr13 53028812 53052056 13q14.3 13q14.3 614061 OLFM4, GC1, GW112 Olfactomedin 4 OLFM4 10562 ENSG00000102837 Olfm4 (MGI:2685142) -chr13 57630103 57729310 13q21.1 13q21.1 611760 PCDH17, PCDH68 Protocadherin 17 PCDH17 27253 ENSG00000118946 Pcdh17 (MGI:2684924) -chr13 59665582 60163927 13q21.2 13q21.2 614567 DIAPH3, DIA2, DRF3, AUNA1, NSDAN Diaphanous-related formin 3 DIAPH3 81624 ENSG00000139734 Auditory neuropathy, autosomal dominant, 1, 609129 (3), Autosomal dominant Diaph3 (MGI:1927222) -chr13 60396456 60573878 13q21.2 13q21.2 614392 TDRD3 Tudor domain-containing protein 3 TDRD3 81550 ENSG00000083544 Tdrd3 (MGI:2444023) -chr13 61409684 61415521 13q21.2 13q21.2 614449 PCDH20, PCDH13 Protocadherin 20 PCDH20 64881 ENSG00000280165 Pcdh20 (MGI:2443376) -chr13 66302833 67230335 13q21.1 13q21.32 603581 PCDH9 Protocadherin 9 PCDH9 5101 ENSG00000184226 Pcdh9 (MGI:1306801) -chr13 68100000 72800000 13q21 613289 ATXN8 Ataxin 8 ATXN8 724066 CAG repeat results in polyglutamine expansion protein Spinocerebellar ataxia 8, 608768 (3), Autosomal dominant -chr13 68100000 101100000 13q21-q32 602085 PAPA2 Postaxial polydactyly, type A2 8103 Postaxial polydactyly, type A2, 602085 (2), Autosomal dominant -chr13 68100000 72800000 13q21 607134 SLI3 Specific language impairment QTL, 3 780906 max with D13S1317 Specific language impairment QTL, 3, 607134 (2) -chr13 69700592 70108451 13q21 13q21.33 605332 KLHL1 Kelch-like 1 KLHL1 57626 ENSG00000150361 Klhl1 (MGI:2136335) -chr13 70107212 70139752 13q21 13q21.33 603680 ATXN8OS, SCA8, KLHL1AS Ataxin 8 opposite strand ATXN8OS 6315 due to CTG repeat in untranslated DNA {Parkinson disease, susceptibility to}, 168600 (3), Autosomal dominant, Multifactorial; Spinocerebellar ataxia 8, 608768 (3), Autosomal dominant -chr13 71437965 71868067 13q22 13q21.33 603803 DACH1 Dachshund family transcription factor 1 DACH1 1602 ENSG00000276644 Dach1 (MGI:1277991) -chr13 72708366 72727628 13q21.33-q22.1 13q21.33 613448 C13orf37, MOZART1 Mitotic spindle-organizing protein associated with a ring of gamma-tubulin MZT1 440145 ENSG00000204899 Mzt1 (MGI:1924039) -chr13 72727922 72756195 13q22.1 13q21.33 610510 BORA, C13orf34 Aurora borealis BORA 79866 ENSG00000136122 Bora (MGI:1924994) -chr13 72752168 72781899 13q21-q22 13q21.33 607533 DIS3, KIAA1008 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease DIS3 22894 ENSG00000083520 Dis3 (MGI:1919912) -chr13 72782132 73016460 13q21-q22 13q21.3-q22.1 607532 PIBF1, JBTS33 Progesterone-induced blocking factor 1 PIBF1 10464 ENSG00000083535 Joubert syndrome 33, 617767 (3), Autosomal recessive Pibf1 (MGI:1261910) -chr13 73054975 73077537 13q21.33 13q22.1 602903 KLF5, BTEB2 Krupple-like factor 5 KLF5 688 ENSG00000102554 Klf5 (MGI:1338056) -chr13 73686088 74168294 13q22 13q22.1 607531 KLF12, AP2REP Kruppel-like factor 12 KLF12 11278 ENSG00000118922 Klf12 (MGI:1333796) -chr13 75283502 75483143 13q22.2 13q22.2 612465 TBC1D4, AS160, KIAA0603, NIDDM5 TPC1 domain family, member 4 TBC1D4 9882 ENSG00000136111 {Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3) Tbc1d4 (MGI:2429660) -chr13 75525213 75549438 13q22 13q22.2 612377 COMMD6 COMM domain-containing protein 6 COMMD6 170622 ENSG00000188243 Commd6 (MGI:1913450) -chr13 75549489 75606019 13q22 13q22.2 603090 UCHL3 Ubiquitin carboxyl-terminal esterase L3 UCHL3 7347 ENSG00000118939 Uchl3,Uchl4 (MGI:1890440,MGI:1355274) -chr13 75620433 75859869 13q21-q22 13q22.2 604362 LMO7, FBXO20, FBX20, KIAA0858 LIM domain only 7 LMO7 4008 ENSG00000136153 Lmo7 (MGI:1353586) -chr13 76700000 78500000 13q22 142700 DDH1 Developmental dysplasia of the hip 1 780896 Developmental dysplasia of the hip 1, 142700 (2), Multifactorial -chr13 76700000 101100000 13q22-q32 167870 PAND1 Panic disorder syndrome 1 387572 Panic disorder syndrome 1, 167870 (2), ?Autosomal dominant -chr13 76700000 78500000 13q22.3 617979 lncRNA-ACOD1, LOC105370268 Long noncoding RNA near ACOD1 105370268 -chr13 76880174 76886404 13q21 13q22.3 610521 KCTD12, PFET1, KIAA1778, C13orf2 Potassium channel tetramerization domain-containing protein 12 KCTD12 115207 ENSG00000178695 Kctd12b,Kctd12 (MGI:2444667,MGI:2145823) -chr13 76928450 76929089 13q22 13q22.3 602543 BTF3P11, BRF3L1 Basic transcription factor 3 pseudogene 11 BTF3P11 690 -chr13 76948510 76958637 13q22.3 13q22.3 615275 ACOD1, IRG1 Aconitate decarboxylase 1 ACOD1 730249 ENSG00000102794 Acod1 (MGI:103206) -chr13 76992080 77005116 13q22.3 13q22.3 608102 CLN5 CLN5 intracellular trafficking protein CLN5 1203 ENSG00000102805 Ceroid lipofuscinosis, neuronal, 5, 256731 (3), Autosomal recessive Cln5 (MGI:2442253) -chr13 76992596 77027163 13q22 13q22.3 605653 FBXL3, FBXL3A, FBL3, IDDSFAS F-box and leucine-rich repeat protein 3 FBXL3 26224 ENSG00000005812 Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 (3), Autosomal recessive Fbxl3 (MGI:1354702) -chr13 77044656 77327097 13q22 13q22.3 610392 MYCBP2, PAM, KIAA0916 Myc-binding protein 2 MYCBP2 23077 ENSG00000005810 Mycbp2 (MGI:2179432) -chr13 77535693 77645262 13q22 13q22.3 604112 SCEL Sciellin SCEL 8796 ENSG00000136155 Scel (MGI:1891228) -chr13 77697673 77764230 13q22.3 13q22.3 610491 SLAIN1 SLAIN motif family, member 1 SLAIN1 122060 ENSG00000139737 Slain1 (MGI:2145578) -chr13 77895480 77975526 13q22 13q22.3 131244 EDNRB, HSCR2, ABCDS, WS4A Endothelin receptor type B EDNRB 1910 ENSG00000136160 ?piebald lethal in mouse {Hirschsprung disease, susceptibility to, 2}, 600155 (3), Autosomal dominant; ABCD syndrome, 600501 (3), Autosomal recessive; Waardenburg syndrome, type 4A, 277580 (3), Autosomal dominant, Autosomal recessive Ednrb (MGI:102720) -chr13 78598361 78603551 13q31.1 13q31.1 601632 POU4F1, BRN3A, ATITHS POU domain, class 4, transcription factor 1 POU4F1 5457 ENSG00000152192 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, 619352 (3), Autosomal dominant Pou4f1 (MGI:102525) -chr13 78614285 78659164 13q31.1 13q31.1 615906 OBI1, RNF219, C13orf7 ORC ubiquitin ligase 1 OBI1 79596 ENSG00000152193 Obi1 (MGI:1919736) -chr13 79481154 79556076 13q22.2 13q31.1 610041 NDFIP2, N4WBP5A, KIAA1165 NEDD4 family-interacting protein 2 NDFIP2 54602 ENSG00000102471 Ndfip2 (MGI:1923523) -chr13 80011076 80026662 13q31.1 13q31.1 615230 LNCR13Q1 Long noncoding RNA on 13q (TCONS_00021856) LINC01080 101515984 -chr13 80335975 80341125 13q31.1 13q31.1 602466 SPRY2, IGAN3 Sprouty RTK signaling antagonist 2 SPRY2 10253 ENSG00000136158 mutation identified in 1 IGAN3 family {?IgA nephropathy, susceptibility to, 3}, 616818 (3), Autosomal dominant Spry2 (MGI:1345138) -chr13 83877204 83882473 13q31 13q31.1 609678 SLITRK1, KIAA1910, TTM SLIT- and NTRK-like family, member 1 SLITRK1 114798 ENSG00000178235 mutation identified in 1 TTM patient Tourette syndrome, 137580 (3), Autosomal dominant; ?Trichotillomania, 613229 (3), Autosomal dominant, Multifactorial Slitrk1 (MGI:2679446) -chr13 85792789 85799418 13q31 13q31.1 609681 SLITRK6, DFNMYP SLIT- and NTRK-like family, member 6 SLITRK6 84189 ENSG00000184564 Deafness and myopia, 221200 (3), Autosomal recessive Slitrk6 (MGI:2443198) -chr13 87671370 87679615 13q31 13q31.2 609680 SLITRK5, KIAA0918 SLIT- and NTRK-like family, member 5 SLITRK5 26050 ENSG00000165300 Slitrk5 (MGI:2679448) -chr13 89400000 94400000 13q31.3 614326 FGLDS2 Feingold syndrome 2 contiguous gene deletion syndrome Feingold syndrome 2, 614326 (4), Autosomal dominant -chr13 89400000 109600000 13q31-q33 193003 NYS4 Nystagmus 4, congenital, autosomal dominant 317685 Nystagmus 4, congenital, autosomal dominant, 193003 (2), Autosomal dominant -chr13 89400000 94400000 13q31.3 609572 PPR2 Photoparoxysmal response 2 780910 max lod at D13S1230 Photoparoxysmal response 2, 609572 (2) -chr13 91347819 91354574 13q31.3 13q31.3 609415 MIR17HG, MIRH1, MIHG1, MIRHG1, C13orf25 Micro RNA 17 host gene MIR17HG 407975 ENSG00000215417 Mir17hg (MGI:1923207) -chr13 91350604 91350687 13q31.3 13q31.3 609416 MIR17, MIR91, MIRN17 Micro RNA 17 MIR17 406952 ENSG00000284536 within C13orf25; sequence encodes 2 micro RNAs Mir17 (MGI:3619065) -chr13 91350750 91350820 13q31.3 13q31.3 609417 MIR18A, MIRN18A Micro RNA 18A MIR18A 406953 ENSG00000283815 within C13orf25 Mir18 (MGI:2676844) -chr13 91350890 91350971 13q31.3 13q31.3 609418 MIR19A, MIRN19A Micro RNA 19A MIR19A 406979 ENSG00000284204 within C13orf25 Mir19a (MGI:3618743) -chr13 91351064 91351134 13q31.3 13q31.3 609420 MIR20A, MIRN20A Micro RNA 20A MIR20A 406982 ENSG00000283762 within C13orf25 Mir20a (MGI:2676872) -chr13 91351191 91351277 13q31.3 13q31.3 609419 MIR19B1, MIRN19B1 Micro RNA 19B1 MIR19B1 406980 ENSG00000284375 within C13orf25 Mir19b-1 (MGI:3629917) -chr13 91351313 91351390 13q31.3 13q31.3 609422 MIR92A1, MIR92-1, MIRN92-1 Micro RNA 92A1 MIR92A1 407048 ENSG00000283705 within C13orf25 Mir92-1 (MGI:3629918) -chr13 91398620 92867236 13q32 13q31.3 602446 GPC5 Glypican 5 GPC5 2262 ENSG00000179399 Gpc5 (MGI:1194894) -chr13 93226806 94408019 13q32 13q31.3-q32.1 604404 GPC6, OMIMD1 Glypican 6 GPC6 10082 ENSG00000183098 Omodysplasia 1, 258315 (3), Autosomal recessive Gpc6 (MGI:1346322) -chr13 94436810 94549405 13q31-q32 13q32.1 191275 DCT, TYRP2, OCA8 Dopachrome tautomerase (dopachrome delta-isomerase; tyrosinase-related protein 2) DCT 1638 ENSG00000080166 Oculocutaneous albinism, type VIII, 619165 (3), Autosomal recessive Dct (MGI:102563) -chr13 94574053 94596273 13q32.1 13q32.1 616146 TGDS, SDR2E1, CATMANS TDP-glucose 4,6-dehydratase TGDS 23483 ENSG00000088451 Catel-Manzke syndrome, 616145 (3), Autosomal recessive Tgds (MGI:1923605) -chr13 94601856 94634660 13q31 13q32.1 607787 GPR180, ITR G protein-coupled receptor 180 GPR180 160897 ENSG00000152749 Gpr180 (MGI:1930949) -chr13 94709621 94712544 13q31-q32 13q32.1 604974 SOX21 SRY-box 21 SOX21 11166 ENSG00000125285 Sox21 (MGI:2654070) -chr13 95019834 95301450 13q32 13q32.1 605250 ABCC4, MRP4, MOATB ATP-binding cassette, subfamily C, member 4 ABCC4 10257 ENSG00000125257 Abcc4 (MGI:2443111) -chr13 95433587 95579758 13q32.1 13q32.1 617579 CLDN10, OSPL, CPETRL3, HELIX Claudin 10 CLDN10 9071 ENSG00000134873 HELIX syndrome, 617671 (3), Autosomal recessive Cldn10 (MGI:1913101) -chr13 95578201 95644705 13q31 13q32.1 608671 DZIP1, KIAA0996, SPGF47, MVP3 DAZ-interacting zinc finger protein 1 DZIP1 22873 ENSG00000134874 mutation identified in 1 MVP3 family Spermatogenic failure 47, 619102 (3), Autosomal recessive; ?Mitral valve prolapse 3, 610840 (3), Autosomal dominant Dzip1 (MGI:1914311) -chr13 95677138 95794987 13q32 13q32.1 601184 DNAJC3, PRKRI, P58, ACPHD DnaJ, E. coli, homolog of, subfamily C, member 3 (protein kinase inhibitor p58) DNAJC3 5611 ENSG00000102580 mutation identified in 1 ACPHD family ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3), Autosomal recessive Dnajc3 (MGI:107373) -chr13 95801579 96053436 13q32.1 13q32.1 605898 UGGT2, HUGT2 UDP-glucose glycoprotein glucosyltransferase 2 UGGT2 55757 ENSG00000102595 Uggt2 (MGI:1913685) -chr13 96090106 96839561 13q32-q33 13q32.1 609401 HS6ST3 Heparan sulfate 6-O-sulfotransferase 3 HS6ST3 266722 ENSG00000185352 Hs6st3 (MGI:1354960) -chr13 96985712 96994729 13q32.1 13q32.1 606922 GPR80 G protein-coupled receptor 80 OXGR1 27199 ENSG00000165621 Oxgr1 (MGI:2685145) -chr13 97434168 97469127 13q34 13q32.1 179540 RAP2A RAP2, member of RAS oncogene family (K-rev) RAP2A 5911 ENSG00000125249 Rap2a (MGI:97855) -chr13 97953640 98024295 13q32.2 13q32.2 602008 IPO5, RANBP5, KPNB3 Importin 5 IPO5 3843 ENSG00000065150 Ipo5 (MGI:1917822) -chr13 98142588 98455175 13q32.2 13q32.2 602654 FARP1, CDEP FERM, ARHGEF, and pleckstrin domain-containing protein 1 FARP1 10160 ENSG00000152767 Farp1 (MGI:2446173) -chr13 98445184 98577106 13q31.2-q32.3 13q32.2 604984 STK24, MST3, MST3B Serine/threonine protein kinase 24 STK24 8428 ENSG00000102572 Stk24 (MGI:2385007) -chr13 98683800 98752671 13q33-q34 13q32.2-q32.3 600544 SLC15A1, HPECT1 Solute carrier family 15 (oligopeptide transporter), member 1 SLC15A1 6564 ENSG00000088386 Slc15a1 (MGI:1861376) -chr13 98700000 101100000 13q32 614629 KTCN7 Keratoconus 7 100887822 max lod at D13S159 Keratoconus 7, 614629 (2), Autosomal dominant -chr13 98700000 101100000 13q32 156600 MCOR, C13DELq32, DEL13q32 Microcoria, congenital (chromosome 13q32 deletion syndrome) 35-80kb deletion encompassing TGDS and GPR180 Microcoria, congenital, 156600 (4), Autosomal dominant -chr13 98700000 101100000 13q32 603176 SCZD7 Schizophrenia susceptibility locus, chromosome 13q-related 8401 {Schizophrenia}, 181500 (2), Autosomal dominant -chr13 98700000 101100000 13q32 609903 SLEB5 Systemic lupus erythematosus, susceptibility to, 5 100188798 max lod at D13S892 {Systemic lupus erythematosus, susceptibility to, 5}, 609903 (2) -chr13 98700000 109600000 13q32-q33 606258 STQTL4 Stature quantitative trait locus 4 282550 max lod at D13S779 and D13S797 {Stature QTL 4}, 606258 (2) -chr13 98793428 99086693 13q32.3 13q32.3 607325 ZIZ1, KIAA1058 Zizimin 1 DOCK9 23348 ENSG00000088387 Dock9 (MGI:106321) -chr13 99254712 99262497 13q32 13q32.3 602042 GPR18 G protein-coupled receptor-18 GPR18 2841 ENSG00000125245 Gpr18 (MGI:107859) -chr13 99294272 99307398 13q32.3 13q32.3 605741 GPR183, EBI2 G protein-coupled receptor 183 GPR183 1880 ENSG00000169508 Gpr183 (MGI:2442034) -chr13 99501471 99564047 13q32.3 13q32.3 604678 TM9SF2 Transmembrane 9 superfamily, member 2 TM9SF2 9375 ENSG00000125304 Tm9sf2 (MGI:1915309) -chr13 99606689 99909443 13q32 13q32.3 609686 CLYBL, CLB Citrate lyase beta-like CLYBL 171425 ENSG00000125246 Clybl (MGI:1916884) -chr13 99962963 99971908 13q32.3 13q32.3 617896 ZIC5, OPR Zic family, member 5 ZIC5 85416 ENSG00000139800 Zic5 (MGI:1929518) -chr13 99981783 99986764 13q32 13q32.3 603073 ZIC2, HPE5 ZIC family, member 2 ZIC2 7546 ENSG00000043355 Holoprosencephaly 5, 609637 (3), Autosomal dominant Zic2 (MGI:106679) -chr13 100089019 100530434 13q32 13q32.3 232000 PCCA Propionyl Coenzyme A carboxylase, alpha polypeptide PCCA 5095 ENSG00000175198 Propionicacidemia, 606054 (3), Autosomal recessive Pcca (MGI:97499) -chr13 100530179 100588788 13q32.3 13q32.3 613378 A2LD1, GGACT AIG1-like domain-containing protein 1 GGACT 87769 ENSG00000134864 Ggact (MGI:2385008) -chr13 100603624 100675630 13q32.3 13q32.3 618203 TMTC4 Transmembrane and tetratricopeptide repeat domains-containing protein 4 TMTC4 84899 ENSG00000125247 Tmtc4 (MGI:1921050) -chr13 101053773 101417205 13q33.11 13q32.3-q33.1 611549 NALCN, IHPRF1, CLIFAHDD Sodium leak channel, nonselective NALCN 259232 ENSG00000102452 Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3), Autosomal dominant; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3), Autosomal recessive Nalcn (MGI:2444306) -chr13 101100000 114364328 13q33.1-q34 610361 OFC9 Orofacial cleft 9 100462724 associated with rs1830756 Orofacial cleft 9, 610361 (2) -chr13 101452635 101720855 13q33 13q33.1 604234 ITGBL1, TIED Integrin, beta-like 1 ITGBL1 9358 ENSG00000198542 Itgbl1 (MGI:2443439) -chr13 101710803 102402442 13q34 13q33.1 601515 FGF14, FHF4, SCA27 Fibroblast growth factor-14 FGF14 2259 ENSG00000102466 Spinocerebellar ataxia 27, 609307 (3), Autosomal dominant Fgf14 (MGI:109189) -chr13 102596984 102679957 13q32-q33 13q33.1 190470 TPP2, IMD78 Tripeptidyl peptidase II TPP2 7174 ENSG00000134900 Immunodeficiency 78 with autoimmunity and developmental delay, 619220 (3), Autosomal recessive Tpp2 (MGI:102724) -chr13 102678781 102704310 13q33.1 13q33.1 615259 METTL21C, C13orf39 Methyltransferase-like 21C METTL21C 196541 ENSG00000139780 Mettl21c (MGI:3611450) -chr13 102784280 102799008 13q33 13q33.1 611613 POGLUT2, KDELC1, EP58 Protein O-glucosyltransferase 2 POGLUT2 79070 ENSG00000134901 Poglut2 (MGI:1919300) -chr13 102799118 102841532 13q32-q33 13q33.1 619006 BIVM Basic immunoglobulin-like variable motif-containing protein BIVM 54841 ENSG00000134897 Bivm (MGI:2179809) -chr13 102846031 102875994 13q33 13q33.1 133530 ERCC5, XPG, COFS3 Excision-repair, complementing defective, in Chinese hamster, number 5 ERCC5 2073 ENSG00000134899 Xeroderma pigmentosum, group G, 278780 (3), Autosomal recessive; Cerebrooculofacioskeletal syndrome 3, 616570 (3), Autosomal recessive; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3), Autosomal recessive Ercc5 (MGI:103582) -chr13 103043997 103066416 13q33 13q33.1 601295 SLC10A2, NTCP2, PBAM1 Solute carrier family 10 (sodium/bile acid cotransporter family), member 2 SLC10A2 6555 ENSG00000125255 mutation identified in 1 PBAM1 patient ?Bile acid malabsorption, primary, 1, 613291 (3), Autosomal recessive Slc10a2 (MGI:1201406) -chr13 104200000 106400000 13q33.2 614318 VUR5 Vesicoureteral reflux 5 100820760 nearest marker rs4476030 Vesicoureteral reflux 5, 614318 (2) -chr13 105459054 105505680 13q34 13q33.2 607415 DAOAAS, G30 DAOA antisense RAN DAOA-AS1 282706 ENSG00000232307 -chr13 105465866 105491033 13q34 13q33.2 607408 DAOA, G72 D-amino acid oxidase activator DAOA 267012 ENSG00000182346 {Schizophrenia}, 181500 (2), Autosomal dominant -chr13 106400000 114364328 13q33-q34 619148 DEL13q33q34, C13DELq33q34 Chromosome 13q33-q34 deletion syndrome Chromosome 13q33-q34 deletion syndrome, 619148 (4), Autosomal dominant -chr13 106489744 106535661 13q33 13q33.3 600527 EFNB2, EPLG5, LERK5, HTKL eph-related receptor tyrosine kinase ligand 5 (ephrin-B2) EFNB2 1948 ENSG00000125266 Efnb2 (MGI:105097) -chr13 106541672 106568163 13q33.3 13q33.3 614046 ARGLU1 Arginine- and glutamate-rich protein 1 ARGLU1 55082 ENSG00000134884 Arglu1 (MGI:2442985) -chr13 108207441 108218348 13q22-q34 13q33.3 601837 LIG4, LIG4S Ligase IV, DNA, ATP-dependent LIG4 3981 ENSG00000174405 LIG4 syndrome, 606593 (3), Autosomal recessive; {Multiple myeloma, resistance to}, 254500 (3), Somatic mutation Lig4 (MGI:1335098) -chr13 108268239 108308483 13q32-q34 13q33.3 603969 TNFSF13B, BLYS, BAFF Tumor necrosis factor ligand superfamily, member 13B TNFSF13B 10673 ENSG00000102524 Tnfsf13b (MGI:1344376) -chr13 108495728 109208004 13q33.3 13q33.3 615479 MYO16, MYAP3, KIAA0865 Myosin XVI MYO16 23026 ENSG00000041515 Myo16 (MGI:2685951) -chr13 109600000 114364328 13q34 614211 DFNA33 Deafness, autosomal dominant 33 29779 maximum lod at D13S285 Deafness, autosomal dominant 33, 614211 (2), Autosomal dominant -chr13 109752694 109786582 13q34 13q34 600797 IRS2 Insulin receptor substrate 2 IRS2 8660 ENSG00000185950 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant Irs2 (MGI:109334) -chr13 110148962 110307156 13q34 13q34 120130 COL4A1, BSVD1, HANAC, ICH, BSVD, RATOR, PADMAL Collagen IV, alpha-1 polypeptide COL4A1 1282 ENSG00000187498 mutation identified in 1 RATOR family ?Retinal arteries, tortuosity of, 180000 (3), Autosomal dominant; {Hemorrhage, intracerebral, susceptibility to}, 614519 (3); Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3), Autosomal dominant; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564 (3), Autosomal dominant; Brain small vessel disease with or without ocular anomalies, 175780 (3), Autosomal dominant Col4a1 (MGI:88454) -chr13 110307283 110513208 13q34 13q34 120090 COL4A2, BSVD2, ICH Collagen IV, alpha-2 polypeptide COL4A2 1284 ENSG00000134871 Brain small vessel disease 2, 614483 (3), Autosomal dominant; {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Col4a2 (MGI:88455) -chr13 110615459 110639995 13q34 13q34 615910 NAXD, CARKD, PEBEL2 NAD(P)HX dehydratase NAXD 55739 ENSG00000213995 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321 (3), Autosomal recessive Naxd (MGI:1913353) -chr13 110641409 110713600 13q34 13q34 612800 CARS2, COXPD27 Cysteinyl-tRNA synthetase 2 CARS2 79587 ENSG00000134905 Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive Cars2 (MGI:1919191) -chr13 110712622 110723338 13q34 13q34 601566 ING1 Inhibitor of growth 1 ING1 3621 ENSG00000153487 Squamous cell carcinoma, head and neck, somatic, 275355 (3) Ing1 (MGI:1349481) -chr13 111114618 111305733 13q34 13q34 605477 ARHGEF7, PIXB, COOL1 Rho guanine nucleotide exchange factor 7 (PAK-interacting exchange factor, beta) ARHGEF7 8874 ENSG00000102606 Arhgef7 (MGI:1860493) -chr13 112067148 112071705 13q34 13q34 602148 SOX1 SRY (sex determining region Y)-box 1 SOX1 6656 ENSG00000182968 Sox1 (MGI:98357) -chr13 112485004 112606468 13q34 13q34 617818 TUBGCP3, GCP3, GRIP104, SPC98, ALP6 Tubulin-gamma complex-associated protein 3 TUBGCP3 10426 ENSG00000126216 Tubgcp3 (MGI:2183752) -chr13 112690033 112887167 13q34 13q34 605868 ATP11A, ATPIS, ATPIH ATPase, class VI, type 11A ATP11A 23250 ENSG00000068650 Atp11a (MGI:1354735) -chr13 112894377 113099741 13q34 13q34 609499 MCF2L, OST, KIAA0362 MCF2-like protein MCF2L 23263 ENSG00000126217 Mcf2l (MGI:103263) -chr13 113105772 113120684 13q34 13q34 613878 F7 Coagulation factor VII F7 2155 ENSG00000057593 {Myocardial infarction, decreased susceptibility to}, 608446 (3); Factor VII deficiency, 227500 (3), Autosomal recessive F7 (MGI:109325) -chr13 113122798 113149528 13q34 13q34 613872 F10 Coagulation factor X F10 2159 ENSG00000126218 Factor X deficiency, 227600 (3), Autosomal recessive F10 (MGI:103107) -chr13 113155863 113172385 13q34 13q34 176895 PROZ, PZ Protein Z PROZ 8858 ENSG00000126231 [Protein Z deficiency], 614024 (3) Proz (MGI:1860488) -chr13 113165001 113209466 13q34 13q34 613713 PCID2 PCI domain-containing protein 2 PCID2 55795 ENSG00000126226 Pcid2 (MGI:2443003) -chr13 113208192 113267107 13q34 13q34 603137 CUL4A Cullin 4A CUL4A 8451 ENSG00000139842 Cul4a (MGI:1914487) -chr13 113297238 113323671 13q34 13q34 153330 LAMP1 Lysosome-associated membrane protein-1 LAMP1 3916 ENSG00000185896 Lamp1 (MGI:96745) -chr13 113399606 113453487 13q31 13q34 610620 ADPRHL1, ARH2 ADP-ribosylhydrolase-like 1 ADPRHL1 113622 ENSG00000153531 Adprhl1 (MGI:2442168) -chr13 113490992 113550228 13q34 13q34 617134 TMCO3, C13orf11 Transmembrane and coiled-coil domains protein 3 TMCO3 55002 ENSG00000150403 Tmco3 (MGI:2444946) -chr13 113584687 113641472 13q34 13q34 189902 TFDP1, DP1, DRTF1 Transcription factor Dp-1 TFDP1 7027 ENSG00000198176 pseudogene on 1q32.3 Tfdp1 (MGI:101934) -chr13 113645770 113737735 13q34 13q34 180381 GRK1, RHOK, RK G protein-dependent receptor kinase 1 (rhodopsin kinase) GRK1 6011 ENSG00000185974 Oguchi disease-2, 613411 (3) Grk1 (MGI:1345146) -chr13 113648803 113658197 13q34 13q34 137217 ATP4B ATPase, H+, K+ transporting, beta ATP4B 496 ENSG00000186009 Atp4b (MGI:88114) -chr13 113820548 113864075 13q34 13q34 600441 GAS6, AXLLG, AXSF Growth arrest-specific 6 GAS6 2621 ENSG00000183087 Gas6 (MGI:95660) -chr13 113977782 114132622 13q34 13q34 605182 RASA3 Ras p21 protein activator 3 RASA3 22821 ENSG00000185989 Rasa3 (MGI:1197013) -chr13 114234896 114272722 13q34 13q34 603461 CDC16, APC6 Cell division cycle 16 CDC16 8881 ENSG00000130177 Cdc16 (MGI:1917207) -chr13 114281597 114305816 13q34 13q34 605530 UPF3A, RENT3A UPF3A regulator of nonsense-mediated mRNA decay UPF3A 65110 ENSG00000169062 Upf3a (MGI:1914281) -chr13 114314502 114327321 13q34 13q34 616327 CHAMP1, ZNF828, C13orf8, KIAA1802, MRD40 Chromosome alignment-maintaining phosphoprotein 1 CHAMP1 283489 ENSG00000198824 Mental retardation, autosomal dominant 40, 616579 (3), Autosomal dominant Champ1 (MGI:1196398) -chr14 3600000 8000000 14p12 180451 RNR2 Ribosomal RNA-2 RNR2 6053 -chr14 8000000 37400000 14p11.2-q13 606771 ADIPQTL3, CAQ14 Adiponectin, serum level of, quantitative trait locus 3 171512 between D14S608 and D14S599 {Adiponectin, serum level of, QTL3}, 606771 (2) -chr14 18200000 57600000 14q11-q22 613457 DEL14q11q22, C14DELq11q22 Chromosome 14q11-q22 deletion syndrome contiguous gene syndrome Chromosome 14q11-q22 deletion syndrome, 613457 (4), Isolated cases -chr14 18200000 32900000 14q11.2-q12 609965 DFNA53 Deafness, autosomal dominant 53 353347 max lod at D14S1280 Deafness, autosomal dominant 53, 609965 (2), Autosomal dominant -chr14 18200000 37400000 14q11.2-q13 144110 HHPP Hyperhidrosis palmaris et plantaris 100861529 between D14S283 and D14S264 Hyperhidrosis palmaris et plantaris, 144110 (2), Autosomal dominant -chr14 18200000 32900000 14q11-q12 606675 IBD4 Inflammatory bowel disease 4 50608 {Inflammatory bowel disease 4}, 606675 (2) -chr14 18200000 32900000 14q11.2-q12 611095 MRT9, MRT26 Mental retardation, autosomal recessive, 9/26 100101424 between rs1998463 and rs243286 Mental retardation, autosomal recessive, 9/26, 611095 (2), Autosomal recessive -chr14 18200000 24100000 14q11.2 612851 NRCLP5 Narcolepsy 5 100302514 associated with rs1154155, rs12587781, rs1263646 {Narcolepsy 5}, 612851 (2) -chr14 18200000 32900000 14q11.2-q12 610420 PAURT1 Preauricular tag, isolated, autosomal dominant, 1 101669760 between D14S990 and D14S264 Preauricular tag, isolated, autosomal dominant, 1, 610420 (2), Autosomal dominant -chr14 18200000 24100000 14q11.2 605463 RSCIS Radiation sensitivity/chromosome instability syndrome, autosomal dominant 64239 Radiation sensitivity/chromosome instability syndrome, autosomal dominant (1) -chr14 18200000 32900000 14q11.2-q12 610234 SPD3 Synpolydactyly 3 780922 max lod at D14S264 Synpolydactyly 3, 610234 (2) -chr14 18200000 24100000 14q11.2 615443 TRAJ@ T-cell receptor alpha chain joining gene cluster -chr14 18200000 24100000 14q11.2 615442 TRAV@ T-cell receptor alpha chain variable gene cluster -chr14 18200000 24100000 14q11.2 615460 TRDD@ T-cell receptor delta chain diversity gene cluster -chr14 18200000 24100000 14q11.2 615461 TRDJ@ T-cell receptor delta chain joining gene cluster -chr14 18200000 24100000 14q11.2 615459 TRDV@ T-cell receptor delta chain variable gene cluster -chr14 18200000 24100000 14q11 617833 ZFHX2AS1 ZFHX2 antisense RNA 1 ZFHX2-AS1 109729160 -chr14 20286226 20305950 14q11.2 14q11.2 619014 TTC5, NEDCAFD Tetratricopeptide repeat domain-containing protein 5 TTC5 91875 ENSG00000136319 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, 619244 (3), Autosomal recessive Ttc5 (MGI:2683584) -chr14 20311369 20333278 14q11.1 14q11.2 608249 C14orf18, HEI10 Human enhancer of invasion 10 CCNB1IP1 57820 ENSG00000100814 Ccnb1ip1 (MGI:2685134) -chr14 20343040 20357903 14q11.2 14q11.2 607725 PARP2, ADPRTL2, ADPRT2 Poly(ADP-ribose) polymerase 2 PARP2 10038 ENSG00000129484 Parp2 (MGI:1341112) -chr14 20343070 20343410 14q11.2 14q11.2 608513 RPPH1, H1RNA Ribonuclease P, RNA component H1 RPPH1 85495 ENSG00000277209 Rpph1 (MGI:1934664) -chr14 20365666 20413539 14q11.2 14q11.2 601686 TEP1, TP1 Telomerase-associated protein-1 TEP1 7011 ENSG00000129566 Tep1 (MGI:109573) -chr14 20446400 20454811 14q11.2-q12 14q11.2 610107 OSGEP, FLJ20411, GAMOS3 O-sialoglycoprotein endopeptidase OSGEP 55644 ENSG00000092094 Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive Osgep (MGI:1913496) -chr14 20455225 20457766 14q12 14q11.2 107748 APEX, APE APEX nuclease (multifunctional DNA repair enzyme) APEX1 328 ENSG00000100823 Apex1 (MGI:88042) -chr14 20457680 20461611 14q11.2 14q11.2 609865 PIP4P1, TMEM55B, C14orf9 Phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 PIP4P1 90809 ENSG00000165782 Pip4p1 (MGI:2448501) -chr14 20469405 20477088 14q13.1 14q11.2 164050 PNP, NP Purine nucleoside phosphorylase PNP 4860 ENSG00000198805 centromeric to TCRA Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3), Autosomal recessive Pnp,Pnp2 (MGI:3712328,MGI:97365) -chr14 20556092 20560930 14q11.2 14q11.2 614014 RNAE9 Ribonuclease A family, 9 RNASE9 390443 ENSG00000188655 Rnase9 (MGI:3057273) -chr14 20609335 20609406 14q11 14q11.2 189930 TRNAP1, TRP1 tRNA proline-1 TRP-AGG2-5 7217 -chr14 20610131 20610212 14q11-q12 14q11.2 189932 TRL-AAG2-1, TRNAL1, TRL1 tRNA leucine (AAG) 2-1 TRL-AAG2-3 7207 -chr14 20613400 20613471 14q11-q12 14q11.2 189931 TRNAP2, TRP2 tRNA proline-2 TRP-AGG2-6 7218 -chr14 20613789 20613861 14q11-q12 14q11.2 189933 TRT-TGT3-1, TRNAT2, TRT2 tRNA threonine (anticodon TGT) 3-1 TRT-TGT3-1 7237 -chr14 20684176 20694185 14q11.2 14q11.2 105850 ANG, RNASE5, ALS9 Angiogenin ANG 283 ENSG00000214274 proximal to TCRA/TCRD Amyotrophic lateral sclerosis 9, 611895 (3) Ang6,Ang4,Ang3,Ang2,Ang (MGI:104984,MGI:2656551,MGI:1201793,MGI:3528602,MGI:88022) -chr14 20684559 20701215 14q11.2 14q11.2 601030 RNASE4, RNS4 Ribonuclease, RNase A family, 4 RNASE4 6038 ENSG00000258818 Rnase4 (MGI:1926217) -chr14 20722390 20748379 14q11.2 14q11.2 611580 EDDM3A, FAM12A, HE3A Epididymal protein 3A EDDM3A 10876 ENSG00000181562 Eddm3b (MGI:2684921) -chr14 20768403 20770947 14q11.2 14q11.2 611582 FAM12B, HE3B Family with sequence similarity 12, member B EDDM3B 64184 ENSG00000181552 Eddm3b (MGI:2684921) -chr14 20780955 20782466 14q11.2 14q11.2 601981 RNASE6 Ribonuclease, RNase A family, k6 RNASE6 6039 ENSG00000169413 Rnase6 (MGI:1925666) -chr14 20801227 20802843 14q11.2 14q11.2 180440 RNASE1, RNS1 Ribonuclease, RNase A family, 1 (pancreatic) RNASE1 6035 ENSG00000129538 Rnase1 (MGI:97919) -chr14 20891384 20892347 14q11.2 14q11.2 131398 RNASE3, RNS3, ECP Ribonuclease, RNase A family, 3 (eosinophil cationic protein) RNASE3 6037 ENSG00000169397 Ear6,Rnase2a,Rnase2b,Ear1,Ear2,Ear3,Ear10 (MGI:1890465,MGI:1890463,MGI:1890464,MGI:1858237,MGI:1858598,MGI:108021,MGI:108020) -chr14 20955486 20956435 14q11.2 14q11.2 131410 RNASE2, RNS2, EDN Ribonuclease, RNase A family, 2, liver (eosinophil-derived neurotoxin) RNASE2 6036 ENSG00000169385 Ear6,Ear14,Rnase2a,Rnase2b,Ear1,Ear2,Ear3,Ear10 (MGI:1890465,MGI:3528616,MGI:1890463,MGI:1890464,MGI:1858237,MGI:1858598,MGI:108021,MGI:108020) -chr14 20989979 20997034 14q11.2 14q11.2 616091 METTL17, METT11D1 Methyltransferase-like 17 METTL17 64745 ENSG00000165792 Mettl17 (MGI:1098577) -chr14 20999292 21001870 14q11.2 14q11.2 612166 SLC39A2, ZIP2 Solute carrier family 39 (zinc transporter), member 2 SLC39A2 29986 ENSG00000165794 Slc39a2 (MGI:2684326) -chr14 21016762 21070871 14q11.2 14q11.2 605272 NDRG2 N-myc downstream-regulated gene 2 NDRG2 57447 ENSG00000165795 Ndrg2 (MGI:1352498) -chr14 21024261 21036351 14q11.2 14q11.2 616956 TPPP2, p18 Tubulin polymerization-promoting protein family, member 2 TPPP2 122664 ENSG00000179636 Tppp2 (MGI:2684923) -chr14 21042361 21044232 14q11.2 14q11.2 612484 RNASE7 Ribonuclease A family 7 RNASE7 84659 ENSG00000165799 -chr14 21057821 21058454 14q11.2 14q11.2 612485 RNASE8 Ribonuclease A family, 8 RNASE8 122665 ENSG00000173431 -chr14 21061275 21090247 14q11.2 14q11.2 610018 ARHGEF40, SOLO, FLJ10357 RHO guanine nucleotide exchange factor 40 ARHGEF40 55701 ENSG00000165801 Arhgef40 (MGI:2685515) -chr14 21090075 21104721 14q11 14q11.2 605036 ZNF219 Zinc finger protein-219 ZNF219 51222 ENSG00000165804 Zfp219 (MGI:1917140) -chr14 21209146 21269441 14q11.2 14q11.2 164020 HNRNPC, HNRPC Heterogeneous nuclear ribonucleoprotein C HNRNPC 3183 ENSG00000092199 Hnrnpc (MGI:107795) -chr14 21280082 21351315 14q11 14q11.2 605446 RPGRIP1, LCA6, CORD13 RPGR interacting protein 1 RPGRIP1 57096 ENSG00000092200 Cone-rod dystrophy 13, 608194 (3); Leber congenital amaurosis 6, 613826 (3), Autosomal recessive Rpgrip1 (MGI:1932134) -chr14 21351471 21384018 14q11.2 14q11.2 605012 SUPT16H, SPT16, NEDDFAC SPT16 homolog, facilitates chromatin remodeling subunit SUPT16H 11198 ENSG00000092201 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, 619480 (3), Autosomal dominant Supt16 (MGI:1890948) -chr14 21385198 21456122 14q11.2 14q11.2 610528 CHD8, DUPLIN, KIAA1564, AUTS18 Chromodomain helicase DNA-binding protein 8 CHD8 57680 ENSG00000100888 {Autism, susceptibility to, 18}, 615032 (3), Autosomal dominant Chd8 (MGI:1915022) -chr14 21397292 21397400 14q11.2 14q11.2 618943 SNORD8, RNU6C Small nucleolar RNA, C/D box, 8 SNORD8 319103 ENSG00000200785 -chr14 21459019 21476958 14q11.1-q11.2 14q11.2 607466 RAB2B Ras-associated protein RAB2B RAB2B 84932 ENSG00000129472 Rab2b (MGI:1923588) -chr14 21477194 21499169 14q11.2 14q11.2 614032 TOX4, LCP1, KIAA0737 TOX high mobility group box family member 4 TOX4 9878 ENSG00000092203 Tox4 (MGI:1915389) -chr14 21498137 21511339 14q11.1 14q11.2 612472 METTL3, IME4 Methyltransferase-like 3 METTL3 56339 ENSG00000165819 Mettl3 (MGI:1927165) -chr14 21521079 21537141 14q11.1-q12 14q11.2 602219 SALL2, HSAL2, COLB Sal-like 2 SALL2 6297 ENSG00000165821 mutation identified in 1 COLB family ?Coloboma, ocular, autosomal recessive, 216820 (3), Autosomal recessive Sall2 (MGI:1354373) -chr14 22462931 22466576 14q11.2 14q11.2 186810 TRDC T-cell receptor delta chain constant region TRDC 28526 in midst of TCRA -chr14 22547505 22552131 14q11.2 14q11.2 186880 TRAC, TRCA, TRA, IMD7 T-cell receptor alpha TRAC 28755 ENSG00000277734 cen--V-C--ter Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3), Autosomal recessive -chr14 22564906 22589223 14q11-q12 14q11.2 600243 DAD1 Defender against cell death 1 DAD1 1603 ENSG00000129562 Dad1 (MGI:101912) -chr14 22766687 22773041 14q11.2 14q11.2 601066 OXA1L Oxidase (cytochrome c) assembly 1-like OXA1L 5018 ENSG00000155463 Oxa1l (MGI:1916339) -chr14 22773221 22819795 14q11.2 14q11.2 603593 SLC7A7, LPI Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 SLC7A7 9056 ENSG00000155465 Lysinuric protein intolerance, 222700 (3), Autosomal recessive Slc7a7 (MGI:1337120) -chr14 22829861 22835036 14q11.2 14q11.2 611856 MRPL52 Mitochondrial ribosomal protein L52 MRPL52 122704 ENSG00000172590 Mrpl52 (MGI:1916086) -chr14 22836584 22847757 14q11-q12 14q11.2 600754 MMP14, WNCHRS Matrix metalloproteinase 14 (membrane-inserted) MMP14 4323 ENSG00000157227 mutation identified in 1 family ?Winchester syndrome, 277950 (3) Mmp14 (MGI:101900) -chr14 22871612 22881712 14q11.2 14q11.2 609921 LRP10, LRP9 Low density lipoprotein receptor-related protein 10 LRP10 26020 ENSG00000197324 Lrp10 (MGI:1929480) -chr14 22883164 22887677 14q11.2 14q11.2 616955 REM2 RRAD- and GEM-like GTPase 2 REM2 161253 ENSG00000139890 Rem2 (MGI:2155260) -chr14 22920525 22929391 14q11.2 14q11.2 604045 PRMT5, SKB1, IBP72, JBP1, HSL7 Protein arginine methyltransferase 5 PRMT5 10419 ENSG00000100462 Prmt5 (MGI:1351645) -chr14 22946227 22957089 14q11.2 14q11.2 613431 HAUS4, C14orf94 HAUS augmin-like complex, subunit 4 HAUS4 54930 ENSG00000092036 Haus4 (MGI:1261794) -chr14 22971176 22982550 14q11.2 14q11.2 609066 AJUBA, JUB AJUBA LIM protein AJUBA 84962 ENSG00000129474 Ajuba (MGI:1341886) -chr14 23025850 23035219 14q11.2 14q11.2 600306 PSMB5, LMPX Proteasome subunit, beta type, 5 PSMB5 5693 ENSG00000100804 Psmb5 (MGI:1194513) -chr14 23042211 23044059 14q11.2 14q11.2 611137 PSMB11 Proteasome subunit, beta-type, 11 PSMB11 122706 ENSG00000222028 Psmb11 (MGI:1921152) -chr14 23047066 23057618 14q11.2 14q11.2 618599 CDH24 Cadherin 24 CDH24 64403 ENSG00000139880 Cdh24 (MGI:1928330) -chr14 23058563 23095613 14q11.2 14q11.2 604562 ACIN1, KIAA0670 Acinus ACIN1 22985 ENSG00000100813 Acin1 (MGI:1891824) -chr14 23117305 23119254 14q11.2 14q11.2 600749 CEBPE, CRP1 CCAAT/enhancer-binding protein (C/EBP), epsilon CEBPE 1053 ENSG00000092067 Specific granule deficiency, 245480 (3), Autosomal recessive Cebpe (MGI:103572) -chr14 23125294 23183659 14q11.2 14q11.2 604235 SLC7A8, LAT2 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 SLC7A8 23428 ENSG00000092068 Slc7a8 (MGI:1355323) -chr14 23272421 23286131 11q11.2 14q11.2 608119 HOMEZ, KIAA1443 Homeodomain leucine zipper-containing factor HOMEZ 57594 ENSG00000215271 Homez (MGI:2678023) -chr14 23306832 23311750 14q11.2-q12 14q11.2 601931 BCL2L2, BCLW BCL2-like 2 BCL2L2 599 ENSG00000129473 Bcl2l2 (MGI:108052) -chr14 23321456 23326162 14q11.2-q13 14q11.2 602279 PABPN1, PABP2, PAB2 Poly(A)-binding protein, nuclear 1 PABPN1 8106 ENSG00000100836 Oculopharyngeal muscular dystrophy, 164300 (3), Autosomal dominant Pabpn1 (MGI:1859158) -chr14 23346303 23354990 14q11.2 14q11.2 611461 SLC22A17, NGALR, BOIT, BOCT, NGALR2, NGALR3 Solute carrier family 22, organic cation transporter, member 17 SLC22A17 51310 ENSG00000092096 Slc22a17 (MGI:1926225) -chr14 23356401 23365206 14q11.2-q12 14q11.2 609906 EFS Embryonal FYN-associated substrate EFS 10278 ENSG00000100842 Efs (MGI:105311) -chr14 23372808 23376402 14q11.2 14q11.2 605658 IL25, IL17E Interleukin 25 IL25 64806 ENSG00000166090 Il25 (MGI:2155888) -chr14 23376431 23379771 14q11.2 14q11.2 607888 CMTM5, CKLFSF5 CKLF-like marvel transmembrane domain-containing 5 CMTM5 116173 ENSG00000166091 Cmtm5 (MGI:2447164) -chr14 23381986 23408272 14q12 14q11.2 160710 MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3 Myosin, heavy polypeptide-6, cardiac muscle, alpha MYH6 4624 ENSG00000197616 {Sick sinus syndrome 3}, 614090 (3); Atrial septal defect 3, 614089 (3); Cardiomyopathy, dilated, 1EE, 613252 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 14, 613251 (3), Autosomal dominant Myh6 (MGI:97255) -chr14 23388595 23388665 14q12 14q11.2 611116 MIR208A, MIRN208A, MIR208, MIRN208 Micro RNA 208A MIR208A 406990 ENSG00000199157 Mir208a (MGI:2676883) -chr14 23412739 23435676 14q12 14q11.2 160760 MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD Myosin, heavy polypeptide-7, cardiac muscle, beta MYH7 4625 ENSG00000092054 5'-B-4.5kb-A-3' Laing distal myopathy, 160500 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 1, 192600 (3), Digenic dominant, Autosomal dominant; Left ventricular noncompaction 5, 613426 (3), Autosomal dominant; Cardiomyopathy, dilated, 1S, 613426 (3), Autosomal dominant; Scapuloperoneal syndrome, myopathic type, 181430 (3), Autosomal dominant; Myopathy, myosin storage, autosomal dominant, 608358 (3), Autosomal dominant; Myopathy, myosin storage, autosomal recessive, 255160 (3), Autosomal recessive Myh7 (MGI:2155600) -chr14 23415449 23417594 14q11.2 14q11.2 616096 MHRT Myosin heavy chain-associated RNA transcript, noncoding MHRT 104564225 Mhrt (MGI:3642848) -chr14 23417986 23418062 14q11.2 14q11.2 613613 MIR208B, MIRN208B Micro RNA 208B MIR208B 100126336 ENSG00000215991 Mir208b (MGI:3718461) -chr14 23469702 23478825 14q11.2 14q11.2 610777 NGDN, NGD Neuroguidin NGDN 25983 ENSG00000129460 Ngdn (MGI:1916216) -chr14 23511759 23560270 14q11.2 14q11.2 611612 THTPA Thiamine triphosphatase THTPA 79178 ENSG00000259431 Thtpa (MGI:2446078) -chr14 23520856 23556314 14q11.2 14q11.2 617828 ZFHX2, ZFH5, ZNF409, KIAA1056, KIAA1762, MARSIS Zinc finger homeobox 2 ZFHX2 85446 ENSG00000136367 mutation identified in 1 MARSIS family ?Marsili syndrome, 147430 (3), Autosomal dominant Zfhx2 (MGI:2686934) -chr14 23559564 23567938 14q11.2 14q11.2 603534 AP1G2 Adaptor-related protein complex 1, gamma-2 subunit AP1G2 8906 ENSG00000213983 Ap1g2 (MGI:1328307) -chr14 23630114 23645638 14q11.2 14q11.2 615194 DHRS2, HEP27 Short-chain dehydrogenase/reductase family, member 2 DHRS2 10202 ENSG00000100867 Dhrs2 (MGI:1918662) -chr14 23938730 23955111 14q11.2 14q11.2 616925 DHRS4AS1, AS1DHRS4, C14orf67 DDHRS4 antisense RNA 1, noncoding DHRS4-AS1 55449 ENSG00000215256 -chr14 23953734 23969278 14q11.2 14q11.2 611596 DHRS4, NRDR Short-chain dehydrogenase/reductase family, member 4 DHRS4 10901 ENSG00000157326 Dhrs4 (MGI:90169) -chr14 23969873 24006407 14q11.2 14q11.2 615196 DHRS4L2 Short-chain dehydrogenase/reductase family, member 4-like 2 DHRS4L2 317749 ENSG00000187630 Dhrs4 (MGI:90169) -chr14 24007083 24051376 14q11.2 14q11.2 615195 DHRS4L1 Short-chain dehydrogenase/reductase family, member 4-like 1 DHRS4L1 728635 Dhrs4 (MGI:90169) -chr14 24052008 24069728 14q11.2 14q11.2 614716 LRRC16B Leucine-rich repeat-containing protein 16B CARMIL3 90668 ENSG00000186648 Carmil3 (MGI:2448573) -chr14 24069832 24078099 14q11.2 14q11.2 605688 CPNE6 Copine VI CPNE6 9362 ENSG00000100884 Cpne6 (MGI:1334445) -chr14 24078661 24114948 14q11.1-q11.2 14q11-q12 162080 NRL, D14S46E, RP27 Neural retina leucine zipper NRL 4901 ENSG00000129535 Retinitis pigmentosa 27, 613750 (3), Autosomal dominant; Retinal degeneration, autosomal recessive, clumped pigment type (3) Nrl (MGI:102567) -chr14 24094310 24104124 14q11.2-q12 14q11-q12 614095 PCK2, PEPCK2 Phosphoenolpyruvate carboxykinase 2, mitochondrial PCK2 5106 ENSG00000100889 PEPCK deficiency, mitochondrial, 261650 (1), Autosomal recessive Pck2 (MGI:1860456) -chr14 24100000 57600000 14q12-q22 602086 ARVD3 Arrhythmogenic right ventricular dysplasia 3 424 ?distinct from ARVD1 Arrhythmogenic right ventricular dysplasia 3, 602086 (2), Autosomal dominant -chr14 24100000 32900000 14q12 600792 DFNB5 Deafness, autosomal recessive 5 1697 Deafness, autosomal recessive 5, 600792 (2), Autosomal recessive -chr14 24100000 50400000 14q12-q21 611252 SPG32 Spastic paraplegia-32 724107 between D14S264 and D14S978 Spastic paraplegia 32, autosomal recessive, 611252 (2), Autosomal recessive -chr14 24114776 24125241 14q11.2 14q12 613317 DCAF11, WDR23 DDB1- and CUL4-associated factor 11 DCAF11 80344 ENSG00000100897 Dcaf11 (MGI:90168) -chr14 24130658 24132846 14q12 14q12 612028 FITM1, FIT1 Fat storage-inducing transmembrane protein 1 FITM1 161247 ENSG00000139914 Fitm1 (MGI:1915930) -chr14 24136193 24138961 14q11.2 14q12 600654 PSME1, IFI5111 Proteasome activator subunit-1 PSME1 5720 ENSG00000092010 Psme1 (MGI:1096367) -chr14 24143364 24146645 14q11.2 14q12 602161 PSME2 Proteasome activator subunit-2 PSME2 5721 ENSG00000100911 Psme2b,Psme2 (MGI:1096365,MGI:1341073) -chr14 24146874 24160654 14q11.2 14q12 612487 RNF31, ZIBRA Ring finger protein 31 RNF31 55072 ENSG00000092098 Rnf31 (MGI:1934704) -chr14 24161264 24166564 14q11.2 14q12 147574 IRF9, ISGF3, ISGF3G Interferon regulatory factor 9 IRF9 10379 ENSG00000213928 Immunodeficiency 65, susceptibility to viral infections, 618648 (3), Autosomal recessive Irf9 (MGI:107587) -chr14 24171930 24180407 14q11.2-q12 14q12 608193 REC8L1, REC8 Rec8, S. pombe, homolog of REC8 9985 ENSG00000100918 Rec8 (MGI:1929645) -chr14 24189148 24195440 14q12 14q12 618965 TM9SF1, HMP70 Transmembrane protein 9 superfamily, member 1 TM9SF1 10548 ENSG00000100926 Tm9sf1 (MGI:1921390) -chr14 24205523 24208361 14q11.2 14q12 610711 TSSK4, TSSK5 Testis-specific serine/threonine kinase 4 TSSK4 283629 ENSG00000139908 Tssk4 (MGI:1918349) -chr14 24209614 24213487 14q12 14q12 610051 CHMP4A, SNF7 Charged multivesicular body protein 4A CHMP4A 29082 ENSG00000254505 -chr14 24216856 24232366 14q12 14q12 603171 NEDD8 Neural precursor cel expressed, developmentally downregulated 8 NEDD8 4738 ENSG00000129559 Nedd8 (MGI:97301) -chr14 24232621 24239241 14q11-q21 14q12 610781 GMPR2 Guanosine monophosphate reductase 2 GMPR2 51292 ENSG00000100938 Gmpr2 (MGI:1917903) -chr14 24239639 24242673 14q12 14q12 604319 TINF2, TIN2, DKCA3 TRF1-interacting nuclear factor 2 TINF2 26277 ENSG00000092330 Dyskeratosis congenita, autosomal dominant 3, 613990 (3), Autosomal dominant; Revesz syndrome, 268130 (3), Autosomal dominant Tinf2 (MGI:107246) -chr14 24249113 24263176 14q11.2 14q12 190195 TGM1, ICR2, ARCI1 Transglutaminase-1 (K polypeptide epidermal type I, protein-glutamine gamma-glutamyltransferase) TGM1 7051 ENSG00000092295 Ichthyosis, congenital, autosomal recessive 1, 242300 (3), Autosomal recessive Tgm1 (MGI:98730) -chr14 24265537 24271626 14q11.2 14q12 601905 RABGGTA Rab geranylgeranyltransferase, alpha subunit RABGGTA 5875 ENSG00000100949 Rabggta (MGI:1860443) -chr14 24290597 24299779 14q21.3 14q12 610410 DHRS1 Short-chain dehydrogenase/reductase family, member 1 DHRS1 115817 ENSG00000157379 Dhrs1 (MGI:1196314) -chr14 24299849 24309123 14q12 14q12 618308 NOP9 NOP9, S. cerevisiae, homolog of NOP9 161424 ENSG00000196943 Nop9 (MGI:1915092) -chr14 24305186 24311434 14q12 14q12 604441 CIDEB Cell death-inducing DFFA-like effector B CIDEB 27141 ENSG00000136305 Cideb (MGI:1270844) -chr14 24310139 24312037 14q11.2-q12 14q12 605773 LTB4R2, BLTR2, BLT2 Leukotriene B4 receptor 2 LTB4R2 56413 ENSG00000213906 Ltb4r2 (MGI:1888501) -chr14 24311501 24318035 14q11.2-q12 14q12 601531 LTB4R, CMKRL1, P2RY7, BLTR Leukotriene b4 receptor (purinergic receptor P2Y, G protein-coupled, 7; chemokine receptor-like 1) LTB4R 1241 ENSG00000213903 Ltb4r1 (MGI:1309472) -chr14 24318358 24335070 14q11.2 14q12 600292 ADCY4 Adenylate cyclase-4 ADCY4 196883 ENSG00000129467 Adcy4 (MGI:99674) -chr14 24336024 24339990 14q11.2 14q12 605817 RIPK3, RIP3 Receptor-interacting serine/threonine kinase 3 RIPK3 11035 ENSG00000129465 Ripk3 (MGI:2154952) -chr14 24366910 24379603 Chr.14 14q12 602699 NFATC4 Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 4 NFATC4 4776 ENSG00000100968 Nfatc4 (MGI:1920431) -chr14 24426544 24429667 14q12 14q12 612978 CBLN3 Precerebellin 3 CBLN3 643866 ENSG00000139899 Cbln3 (MGI:1889286) -chr14 24439765 24442842 14q12 14q12 616162 SDR39U1 Short-chain dehydrogenase/reductase family 39U, member 1 SDR39U1 56948 ENSG00000100445 Sdr39u1 (MGI:1916876) -chr14 24505352 24508264 14q11.2 14q12 118938 CMA1 Chymase-1, mast cell CMA1 1215 ENSG00000092009 Cma1 (MGI:96941) -chr14 24573517 24576249 14q11.2 14q12 116830 CTSG Cathepsin G CTSG 1511 ENSG00000100448 Ctsg (MGI:88563) -chr14 24606479 24609762 14q11.2 14q12 116831 GZMH, CTSGL2 Granzyme H (cathepsin G-like 2) GZMH 2999 ENSG00000100450 Gzmb (MGI:109267) -chr14 24630953 24634189 14q11.2 14q12 123910 GZMB, CTLA1, CSPB Granzyme B (cytotoxic T-lymphocyte-associated serine esterase-1; cathepsin G-like 1) GZMB 3002 ENSG00000100453 Gzmn,Gzmd,Gzme,Gzmb,Gzmc,Gzmf,Gzmg (MGI:109267,MGI:109256,MGI:109253,MGI:109255,MGI:109265,MGI:109254,MGI:2675494) -chr14 24809453 25050146 14q12 14q12 607958 STXBP6, AMISYN, HSPC156 Syntaxin-binding protein 6 STXBP6 29091 ENSG00000168952 Stxbp6 (MGI:2384963) -chr14 26443089 26598032 14q12 14q12 602157 NOVA1 NOVA alternative splicing regulator 1 NOVA1 4857 ENSG00000139910 Nova1 (MGI:104297) -chr14 28766786 28770276 14q13 14q12 164874 FOXG1, FOXG1B, FKHL1, FKH2, QIN, BF1 Forkhead box G1B FOXG1 2290 ENSG00000176165 Rett syndrome, congenital variant, 613454 (3), Autosomal dominant Foxg1 (MGI:1347464) -chr14 29576478 29927846 14q12 14q12 605435 PRKD1, PRKCM, PKD, CHDED Protein kinase D1 PRKD1 5587 ENSG00000184304 Congenital heart defects and ectodermal dysplasia, 617364 (3), Autosomal dominant Prkd1 (MGI:99879) -chr14 30559135 30620063 14q12 14q12 611299 G2E3, KIAA1333 G2/M phase-specific E3 ubiquitin ligase G2E3 55632 ENSG00000092140 G2e3 (MGI:2444298) -chr14 30622253 30735849 14q12 14q12 618207 SCFD1, SLY1, RA410 Sec1 family domain-containing protein 1 SCFD1 23256 ENSG00000092108 Scfd1 (MGI:1924233) -chr14 30874495 30890617 14q12-q13 14q12 603196 COCH, DFNA9, DFNB110 Cochlin COCH 1690 ENSG00000100473 mutation identified in 1 DFNB110 family Deafness, autosomal dominant 9, 601369 (3), Autosomal dominant; ?Deafness, autosomal recessive 110, 618094 (3), Autosomal recessive Coch (MGI:1278313) -chr14 30893803 31026400 14q12 14q12 614766 STRN3, SG2NA Striatin, calmodulin-binding protein 3 STRN3 29966 ENSG00000196792 Strn3 (MGI:2151064) -chr14 31025105 31096449 14q12 14q12 607243 AP4S1, CPSQ6, SPG52 Adaptor-related protein complex 4, sigma-1 subunit AP4S1 11154 ENSG00000100478 Spastic paraplegia 52, autosomal recessive, 614067 (3), Autosomal recessive Ap4s1 (MGI:1337065) -chr14 31100116 31207792 14q12 14q12 618649 HECTD1 HECT domain-containing E3 ubiquitin protein ligase 1 HECTD1 25831 ENSG00000092148 Hectd1 (MGI:2384768) -chr14 31482874 31488038 14q12 14q12 610118 GPR33 G protein-coupled receptor 33 GPR33 2856 ENSG00000214943 Gpr33 (MGI:1277106) -chr14 31561398 31861292 14q12 14q12 613621 NUBPL, IND1, MC1DN21 Nucleotide-binding protein-like protein NUBPL 80224 ENSG00000151413 Mitochondrial complex I deficiency, nuclear type 21, 618242 (3), Autosomal recessive Nubpl (MGI:1924076) -chr14 32072587 32159727 14q12 14q12 602680 ARHGAP5, RHOGAP5 RHO GTPase-activating protein 5 ARHGAP5 394 ENSG00000100852 Arhgap5 (MGI:1332637) -chr14 32203609 32837683 14q 14q12 604691 ADAP6, ADAP100 A-kinase anchor protein 6 AKAP6 9472 ENSG00000151320 Akap6 (MGI:3050566) -chr14 32934784 33804175 14q13 14q13.1 609430 NPAS3, MOP6 Neuronal PAS domain protein 3 NPAS3 64067 ENSG00000151322 Npas3 (MGI:1351610) -chr14 33924226 33951073 14q13.1 14q13.1 606426 EGLN3, PHD3, HIFP4H3 egl-9 family hypoxia inducible factor 3 EGLN3 112399 ENSG00000129521 Egln3 (MGI:1932288) -chr14 34432787 34462239 14q13.1 14q13.1 613540 SPTSSA, C14orf147, SSSPTA Serine palmitoyltransferase, small subunit, A SPTSSA 171546 ENSG00000165389 Sptssa (MGI:1913399) -chr14 34515937 34539720 14q13.1 14q13.1 609486 EAPP, C14orf11 E2F-associated phosphoprotein EAPP 55837 ENSG00000129518 Eapp (MGI:1913516) -chr14 34561092 34630147 14q13.1 14q13.1 606098 SNX6 Sorting nexin 6 SNX6 58533 ENSG00000129515 Snx6 (MGI:1919433) -chr14 34709112 34714592 14q12 14q13.1 601443 CFL2, NEM7 Cofilin 2, muscle CFL2 1073 ENSG00000165410 Nemaline myopathy 7, autosomal recessive, 610687 (3), Autosomal recessive Cfl2 (MGI:101763) -chr14 34752730 34875359 14q12-q13 14q13.1-q13.2 605680 BAZ1A Bromodomain adjacent to zinc finger domain, 1A BAZ1A 11177 ENSG00000198604 Baz1a (MGI:1309478) -chr14 34982980 35029566 14q13.2 14q13.2 604857 SRP54, SCN8 Signal recognition particle, 54kD SRP54 6729 ENSG00000100883 Neutropenia, severe congenital, 8, autosomal dominant, 618752 (3), Autosomal dominant Srp54b,Srp54c (MGI:3714357,MGI:3714359) -chr14 35044906 35083382 14q13.2 14q13.2 619181 FAM177A1, C14orf24 Family with sequence similarity 177, member A1 FAM177A1 283635 ENSG00000151327 Fam177a,Fam177a2 (MGI:1920635,MGI:3714351) -chr14 35085471 35122661 14q13.2 14q13.2 615902 PPP2R3C, G5PR, GDRM, SPGF36 Protein phosphatase 2, regulatory subunit B-double prime, gamma PPP2R3C 55012 ENSG00000092020 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, 618419 (3), Autosomal recessive; Spermatogenic failure 36, 618420 (3), Autosomal dominant Ppp2r3c (MGI:1930009) -chr14 35122302 35277621 14q13 14q13.2 609947 KIAA0391 KIAA0391 gene PRORP 9692 ENSG00000100890 Prorp (MGI:1913382) -chr14 35278557 35317492 14q13 14q13.2 602855 PSMA6, PROS27, P27K Proteasome subunit, alpha-type, 6 PSMA6 5687 ENSG00000100902 {Myocardial infarction, susceptibility to}, 608446 (3) Psma6 (MGI:1347006) -chr14 35401512 35404748 14q13 14q13.2 164008 NFKBIA, IKBA, EDAID2 Nuclear factor kappa-B inhibitor, alpha NFKBIA 4792 ENSG00000100906 Ectodermal dysplasia and immunodeficiency 2, 612132 (3), Autosomal dominant Nfkbia (MGI:104741) -chr14 35534163 35537053 14q13.2 14q13.2 614027 INSM2, IA6 Insulinoma-associated 2 INSM2 84684 ENSG00000168348 Insm2 (MGI:1930787) -chr14 35538355 35809294 14q13.2 14q13.2 608884 RALGAPA1, GARNL1, TULIP1, GRIPE, KIAA0884, NEDHRIT Ral GTPase activating protein, alpha subunit 1 (catalytic) RALGAPA1 253959 ENSG00000174373 pseudogene on 9q31.1 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, 618797 (3), Autosomal recessive Ralgapa1 (MGI:1931050) -chr14 35825595 35871962 14q13.2 14q13.2 618514 BRMS1L BRMS1-like transcriptional repressor BRMS1L 84312 ENSG00000100916 Brms1l (MGI:1196337) -chr14 36100000 37400000 14q13 609408 HPE8 Holoprosencephaly 8 619406 between D14S49 and D14S1014 Holoprosencephaly 8, 609408 (2) -chr14 36100000 43000000 14q13.3-q21.1 604461 HPV6AI1 Human papillomavirus type 6A integration site 1 HPV6AI1 3259 previously assigned to 10q24 -chr14 36100000 50400000 14q13-q21 608831 RLS2 Restless legs syndrome, susceptibility to, 2 450097 max lod at D14S288 {Restless legs syndrome 2}, 608831 (2) -chr14 36135709 36176650 14q13.3 14q13.3 614821 PTCSC3 PTCSC3 gene PTCSC3 100886964 -chr14 36298557 36320675 14q13.3 14q13.3 609431 MBIP MAP3K12-binding inhibitory protein MBIP 51562 ENSG00000151332 Mbip (MGI:1918320) -chr14 36473287 36519555 14q13.3 14q13.3 617860 SFTA3, SPH Surfactant-associated protein 3 SFTA3 253970 ENSG00000229415 -chr14 36516396 36520231 14q13 14q13.3 600635 NKX2-1, TITF1, NKX2A, TTF1, NMTC1 NK2 homeobox 1 NKX2-1 7080 ENSG00000136352 Chorea, hereditary benign, 118700 (3), Autosomal dominant; {Thyroid cancer, nonmedullary, 1}, 188550 (3), Autosomal dominant; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3), Autosomal dominant Nkx2-1 (MGI:108067) -chr14 36580003 36582613 14q12-q13 14q13.3 603245 NKX2-8, NKX2H, NKX2.8 NK2 homeobox 8 NKX2-8 26257 ENSG00000136327 Nkx2-9 (MGI:1270158) -chr14 36657567 36679361 14q12-q13 14q13.3 167416 PAX9, STHAG3 Paired box gene 9 PAX9 5083 ENSG00000198807 Tooth agenesis, selective, 3, 604625 (3), Autosomal dominant Pax9 (MGI:97493) -chr14 36677317 37172605 14q11.2 14q13.3 607571 SLC25A21, ODC, MTDPS18 Solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 SLC25A21 89874 ENSG00000183032 mutation identified in 1 MTDPS18 patient ?Mitochondrial DNA depletion syndrome 18, 618811 (3), Autosomal recessive Slc25a21 (MGI:2445059) -chr14 37197929 37579206 14q13 14q13.3-q21.1 606850 MIPOL1 MIPOL1 gene MIPOL1 145282 ENSG00000151338 Mipol1 (MGI:1920740) -chr14 37589551 37595248 14q13 14q21.1 602294 FOXA1, HNF3A Forkhead box A1 (hepatocyte nuclear factor-3, alpha) FOXA1 3169 ENSG00000129514 Foxa1 (MGI:1347472) -chr14 38207903 38213066 14q13 14q21.1 182451 SSTR1 Somatostatin receptor-1 SSTR1 6751 ENSG00000139874 Sstr1 (MGI:98327) -chr14 38253999 38256092 14q21.1 14q21.1 616845 CLEC14A C-type lectin domain family 14, member A CLEC14A 161198 ENSG00000176435 Clec14a (MGI:1914114) -chr14 39031918 39103234 14q21.1 14q21.1 610511 SEC23A, CLSD SEC23 homolog A, coat complex II component SEC23A 10484 ENSG00000100934 Craniolenticulosutural dysplasia, 607812 (3), Autosomal recessive Sec23a (MGI:1349635) -chr14 39114260 39136972 14q21.1 14q21.1 602595 GEMIN2, SIP1 GEM-associated protein 2 GEMIN2 8487 ENSG00000092208 Gemin2 (MGI:1913853) -chr14 39147810 39170399 14q21.1 14q21.1 610397 TRAPPC6B, TPC6, NEDMEBA Trafficking protein particle complex, subunit 6B TRAPPC6B 122553 ENSG00000182400 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3), Autosomal recessive Trappc6b (MGI:1925482) -chr14 39175253 39183219 Chr.14 14q21.1 603154 PNN, DRS Pinin PNN 5411 ENSG00000100941 Pnn (MGI:1100514) -chr14 39233914 39388521 14q 14q21.1 602132 MGEA, MEA6 Meningioma-expressed antigen 6 MIA2 4253 ENSG00000150527 ?pseudogenes on other chromosomes Mia2 (MGI:2159614) -chr14 39397683 39432432 14q13.3 14q21.1 609103 FBXO33, FBX33, BMND12 F-box only protein 33 FBXO33 254170 ENSG00000165355 Fbxo33 (MGI:1917861) -chr14 41606875 41904548 14q21.2 14q21.1 612811 LRFN5, SALM5 Leucine-rich repeat and fibronectin type III domain-containing protein 5 LRFN5 145581 ENSG00000165379 Lrfn5 (MGI:2144814) -chr14 43000000 57600000 14q21.2-q22.3 607501 MGR4, MGOA Migraine without aura, susceptibility to, 4 338342 between D14S976 and D14S978 {Migraine without aura, susceptibility to, 4}, 607501 (2), Autosomal dominant -chr14 44504148 44507282 14q21.3 14q21.2 611779 FSCB, C14orf155 Fibrous sheath cabyr-binding protein FSCB 84075 ENSG00000189139 Fscb (MGI:3646964) -chr14 44962189 45074430 14q21.2 14q21.2 617618 TOGARAM1, FAM179B, KIAA0423, JBTS37 TOG array regulator of axonemal microtubules 1 TOGARAM1 23116 ENSG00000198718 Joubert syndrome 37, 619185 (3), Autosomal recessive Togaram1 (MGI:2684313) -chr14 45084115 45116281 14q21.2 14q21.2 614907 PRPF39 Pre-mRNA processing factor 39 PRPF39 55015 ENSG00000185246 Prpf39 (MGI:104602) -chr14 45115291 45134480 14q21.2 14q21.2 186947 FKBP3, FKBP25 FK506-binding protein 3 FKBP3 2287 ENSG00000100442 Fkbp3 (MGI:1353460) -chr14 45135929 45200889 14q21.3 14q21.2 609644 FANCM, KIAA1596, SPGF28, POF15 FANCM gene FANCM 57697 ENSG00000187790 mutation identified in 1 POF15 family ?Premature ovarian failure 15, 618096 (3), Autosomal recessive; Spermatogenic failure 28, 618086 (3), Autosomal recessive Fancm (MGI:2442306) -chr14 45203189 45257189 14q21.2 14q21.2 618139 MIS18BP, C14orf106 Mis18-binding protein 1 MIS18BP1 55320 ENSG00000129534 Mis18bp1 (MGI:2145099) -chr14 46836517 47675604 14q21 14q21.3 611128 MDGA2 MAM domain-containing glycosylphosphatidylinositol anchor 2 MDGA2 161357 ENSG00000139915 Mdga2 (MGI:2444706) -chr14 49570987 49598709 14q 14q21.3 603633 RPS29, DBA13 Ribosomal protein S29 RPS29 6235 ENSG00000213741 Diamond-Blackfan anemia 13, 615909 (3), Autosomal dominant Rps29,Gm14303 (MGI:107681,MGI:3651379) -chr14 49586579 49586877 14q22.1 14q21.3 612177 RN7SL1, 7SL, 7L1A RNA, 7SL, cytoplasmic 1 RN7SL1 6029 ENSG00000276168 -chr14 49618529 49620625 Chr.14 14q21.3 180469 RPL36AL, RPL36A Ribosomal protein L36a-like RPL36AL 6166 ENSG00000165502 Rpl36al (MGI:1913733) -chr14 49620798 49623480 14q21 14q21.3 602616 MGAT2, CDGS2, CDG2A Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyl- transferase MGAT2 4247 ENSG00000168282 Congenital disorder of glycosylation, type IIa, 212066 (3), Autosomal recessive Mgat2 (MGI:2384966) -chr14 49625173 49635243 14q21.3 14q21.3 612517 DNAAF2, KTU, C14orf104, CILD10 Dynein, axonemal, assembly factor 2 DNAAF2 55172 ENSG00000165506 Ciliary dyskinesia, primary, 10, 612518 (3), Autosomal recessive Dnaaf2 (MGI:1923566) -chr14 49643554 49688416 14q13-q21 14q21.3 602670 POLE2, DPE2 Polymerase, DNA, epsilon-2 POLE2 5427 ENSG00000100479 Pole2 (MGI:1197514) -chr14 49690461 49753151 14q21.3 14q21.3 611281 KLHDC1 Kelch domain-containing protein 1 KLHDC1 122773 ENSG00000197776 Klhdc1 (MGI:2672853) -chr14 49767607 49786384 14q21.3 14q21.3 611280 KLHDC2, HCLP1 Kelch domain-containing protein 2 KLHDC2 23588 ENSG00000165516 Klhdc2 (MGI:1916804) -chr14 49782082 49852835 14q22 14q21.3 608378 NEMF, SDCCAG1, IDDSAPN Nuclear export mediator factor NEMF 9147 ENSG00000165525 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, 619099 (3), Autosomal recessive Nemf (MGI:1918305) -chr14 49853615 49853913 14q22.1 14q21.3 612180 RN7SL3 RNA, 7SL, cytoplasmic 3 RN7SL3 378707 ENSG00000278771 -chr14 49862550 49862848 14q22.1 14q21.3 612179 RN7SL2, 7L1C RNA, 7SL, cytoplasmic 2 RN7SL2 378706 ENSG00000274012 -chr14 49893081 49897053 14q21.3 14q21.3 600464 ARF6 ADP-ribosylation factor 6 ARF6 382 ENSG00000165527 Arf6 (MGI:99435) -chr14 50100455 50116571 14q21.3 14q21.3 615260 VCPKMT, METTL21D, C14orf138 Valosin-containing protein lysine methyltransferase VCPKMT 79609 ENSG00000100483 Vcpkmt (MGI:2684917) -chr14 50117129 50231577 14q21 14q21.3 601247 SOS2, NS9 SOS Ras/Rac guanine nucleotide exchange factor 2 SOS2 6655 ENSG00000100485 Noonan syndrome 9, 616559 (3), Autosomal dominant Sos2 (MGI:98355) -chr14 50242433 50312228 14q22.1 14q21.3 609584 L2HGDH, C14orf160, L2HGA L-2-hydroxyglutarate dehydrogenase L2HGDH 79944 ENSG00000087299 L-2-hydroxyglutaric aciduria, 236792 (3), Autosomal recessive L2hgdh (MGI:2384968) -chr14 50311515 50327956 14q21.3 14q21.3 618579 DMAC2L, ATP5S, FB Distal membrane arm assembly complex 2-like protein DMAC2L 27109 ENSG00000125375 Dmac2l (MGI:1915305) -chr14 50326264 50397398 14q21.3 14q21.3 603441 CDKL1, KKIALRE, p42 Cyclin-dependent kinase-like 1 CDKL1 8814 ENSG00000100490 Cdkl1 (MGI:1918341) -chr14 50400000 57600000 14q22.1-q22.3 609640 FRIASS, DEL14q22, C14DELq22 Frias syndrome deletion spans 4.1 Mb on 14q22.1-q22.3 Frias syndrome, 609640 (4), Autosomal dominant -chr14 50400000 73300000 14q22.1-q24.2 255500 MYP18 Myopia 18 100359406 between D14S984 and D14S999 Myopia 18, 255500 (2), Autosomal recessive -chr14 50533081 50633067 14q11-q21 14q22.1 606439 ATL1, SPG3A, HSN1D Atlastin GTPase 1 ATL1 51062 ENSG00000198513 Spastic paraplegia 3A, autosomal dominant, 182600 (3), Autosomal dominant; Neuropathy, hereditary sensory, type ID, 613708 (3), Autosomal dominant Atl1 (MGI:1921241) -chr14 50418491 50561125 Chr.14 14q22.1 604923 MAP4K5, MAPKKKK5 Mitogen-activated protein kinase kinase kinase kinase-5 MAP4K5 11183 ENSG00000012983 Map4k5 (MGI:1925503) -chr14 50633103 50668305 14q22.1 14q22.1 607203 SAV1, WW45, SAV Salvador family WW domain containing protein 1 SAV1 60485 ENSG00000151748 Sav1 (MGI:1927144) -chr14 50719762 50831161 14q22.1 14q22.1 608684 NIN, KIAA1565, SCKL7 Ninein NIN 51199 ENSG00000100503 mutation identified in 1 SCKL7 family ?Seckel syndrome 7, 614851 (3), Autosomal recessive Nin (MGI:105108) -chr14 50905216 50944482 14q22.1 14q22.1 613741 PYGL Phosphorylase, glycogen, liver PYGL 5836 ENSG00000100504 Glycogen storage disease VI, 232700 (3), Autosomal recessive Pygl (MGI:97829) -chr14 50975260 51105172 14q21-q24 14q22.1 606555 TRIM9, SPRING, KIAA0282 Tripartite motif-containing protein 9 TRIM9 114088 ENSG00000100505 Trim9 (MGI:2137354) -chr14 51240246 51257654 14q22.1 14q22.1 610527 TXNDC1, TMX Thioredoxin domain-containing 1 TMX1 81542 ENSG00000139921 Tmx1 (MGI:1919986) -chr14 51489099 51730726 14q22.1 14q22.1 614555 FRMD6, WILLIN, C14orf31 FERM domain-containing protein 6 FRMD6 122786 ENSG00000139926 Frmd6 (MGI:2442579) -chr14 51826173 51969799 14q21 14q22.1 606981 GNG2 Guanine nucleotide-binding protein, gamma-2 GNG2 54331 ENSG00000186469 Gng2 (MGI:102705) -chr14 51989545 52010693 14q22.1 14q22.1 610858 C14orf166, CGI99 Chromosome 14 open reading frame 166 RTRAF 51637 ENSG00000087302 Rtraf (MGI:1915295) -chr14 52004808 52069058 Chr.14 14q22.1 605399 NID2 Nidogen 2 NID2 22795 ENSG00000087303 Nid2 (MGI:1298229) -chr14 52267255 52276723 14q22.1 14q22.1 604687 PTGDR, AS1, ASRT1 Prostaglandin D2 receptor PTGDR 5729 ENSG00000168229 {Asthma, susceptibility to, 1}, 607277 (3) Ptgdr (MGI:102966) -chr14 52314311 52328597 14q22 14q22.1 176804 PTGER2 Prostaglandin E receptor 2, EP2 subtype, 53kD PTGER2 5732 ENSG00000125384 {Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive Ptger2 (MGI:97794) -chr14 52430593 52552562 14q22.1 14q22.1 616179 TXNDC16, KIAA1344 Thioredoxin domain-containing protein 16 TXNDC16 57544 ENSG00000087301 Txndc16 (MGI:1917811) -chr14 52639914 52695749 14q22.1 14q22.1 615435 ERO1L, ERO1LA Endoplasmic reticulum oxidoreduction 1-like ERO1A 30001 ENSG00000197930 Ero1a (MGI:1354385) -chr14 52707162 52728589 14q22.1 14q22.1 602708 PSMC6 Proteasome 26S subunit, ATPase, 6 PSMC6 5706 ENSG00000100519 previously assigned to 12q15 by FISH Psmc6 (MGI:1914339) -chr14 52730158 52774988 14q22.1 14q22.1 615814 STYX Serine/threonine/tyrosine-interacting protein STYX 6815 ENSG00000198252 Styx,Styx-ps (MGI:3709613,MGI:1891150) -chr14 52775192 52791606 14q22.1 14q22.1 616510 GNPNAT1, GNA1 Glucosamine-phosphate N-acetyltransferase 1 GNPNAT1 64841 ENSG00000100522 Gnpnat1 (MGI:1858963) -chr14 52857270 52951049 14q22.1 14q22.1 607746 FERMT2, PLEKHC1, MIG2, UNC112, KIND2 Fermitin family, member 2 FERMT2 10979 ENSG00000073712 Fermt2 (MGI:2385001) -chr14 53036754 53153322 14q22.1 14q22.1 614603 DDHD1, PAPLA1, KIAA1705, SPG28 DDHD domain-containing protein 1 DDHD1 80821 ENSG00000100523 Spastic paraplegia 28, autosomal recessive, 609340 (3), Autosomal recessive Ddhd1 (MGI:2150302) -chr14 53600000 55000000 14q22.2 612589 CRCS8 Colorectal cancer, susceptibility to, 8 100271690 associated with rs4444235 {Colorectal cancer, susceptibility to, 8}, 612589 (2) -chr14 53949735 53956890 14q22.2 14q22.2 112262 BMP4, BMP2B1, BMP2B, MCOPS6, OFC11 Bone morphogenetic protein-4 BMP4 652 ENSG00000125378 Orofacial cleft 11, 600625 (3); Microphthalmia, syndromic 6, 607932 (3), Autosomal dominant Bmp4 (MGI:88180) -chr14 54396872 54420217 14q22 14q22.2 123832 CDKN3 Cyclin-dependent kinase inhibitor 3 (CDK2-associated dual specificity phosphatase) CDKN3 1033 ENSG00000100526 Cdkn3 (MGI:1919641) -chr14 54423560 54441373 14q22.2 14q22.2 611287 CNIH, TGAM77 Cornichon, Drosophila, homolog of CNIH1 10175 ENSG00000100528 Cnih1 (MGI:1277202) -chr14 54474484 54488979 14q22.2 14q22.2 601713 GMFB, GMF Glia maturation factor, beta GMFB 2764 ENSG00000197045 Gmfb (MGI:1927133) -chr14 54509895 54539309 14q22.1 14q22.2 606138 GCRRF1, CGR19 Cell growth regulator with ring finger domain 1 CGRRF1 10668 ENSG00000100532 Cgrrf1 (MGI:1916368) -chr14 54567096 54793314 14q22.2 14q22.2 610747 SAMD4A, SMAUG1, KIAA1053 Sterile alpha motif domain-containing 4A SAMD4A 23034 ENSG00000020577 Samd4 (MGI:1921730) -chr14 54842015 54902825 14q22.1-q22.2 14q22.2 600225 GCH1, DYT5, HPABH4B GTP cyclohydrolase 1 GCH1 2643 ENSG00000131979 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3), Autosomal dominant, Autosomal recessive; Hyperphenylalaninemia, BH4-deficient, B, 233910 (3), Autosomal recessive Gch1 (MGI:95675) -chr14 54938948 55027105 14q22.2 14q22.2-q22.3 608126 WDHD1, AND1 WD repeat and HMG-box DNA binding protein 1 WDHD1 11169 ENSG00000198554 Wdhd1 (MGI:2443514) -chr14 55000000 67400000 14q22-q23 115650 CTRCT32, CTAA1, CAP, CTPP5 Cataract 32, multiple types 1483 between D14S980 and D14S1069 Cataract 32, multiple types, 115650 (2), Autosomal dominant -chr14 55027130 55049488 14q22.3 14q22.3 616337 SOCS4, SOCS7 Suppressor of cytokine signaling 4 SOCS4 122809 ENSG00000180008 Socs4 (MGI:1914546) -chr14 55051646 55070193 14q22.3 14q22.3 617226 MAP1IP1L, MISS Mitogen-activated protein kinase 1-interacting protein 1-like protein MAPK1IP1L 93487 ENSG00000168175 Mapk1ip1,Mapk1ip1l (MGI:2444022,MGI:1916796) -chr14 55129251 55145429 14q21-q22 14q22.3 153619 LGALS3, MAC2, GALBP Lectin, galactose-binding, soluble, 3 LGALS3 3958 ENSG00000131981 assigned earlier to 1p13 Lgals3 (MGI:96778) -chr14 55148129 55191584 14q22.3 14q22.3 617859 DLGAP5, DLG7, HURP, KIAA0008 Discs large-associated protein 5 DLGAP5 9787 ENSG00000126787 Dlgap5 (MGI:2183453) -chr14 55229192 55229935 14q24.3 14q22.3 600012 UBE2L1, UBCL, UBC4 Ubiquitin-conjugating enzyme E2L 1 UBE2L1 283556 -chr14 55271420 55353610 14q22.2 14q22.3 609104 FBXO34, FBX34 F-box only protein 34 FBXO34 55030 ENSG00000178974 Fbxo34 (MGI:1926188) -chr14 55366390 55411829 14q22.3 14q22.3 613515 ATG14, ATG14L, KIAA0831, BARKOR Autophagy related 14 ATG14 22863 ENSG00000126775 Atg14 (MGI:1261775) -chr14 55580206 55684583 14q22 14q22.3 600381 KTN1, CG1 Kinectin KTN1 3895 ENSG00000126777 Ktn1 (MGI:109153) -chr14 56118328 56301585 14q21 14q22.3 614798 PELI2 Pellino, Drosophila, homolog of, 2 PELI2 57161 ENSG00000139946 Peli2 (MGI:1891445) -chr14 56579791 56660628 14q22.3 14q22.3 617449 TMEM260, C14orf101, SHDRA Transmembrane protein 260 TMEM260 54916 ENSG00000070269 Structural heart defects and renal anomalies syndrome, 617478 (3), Autosomal recessive Tmem260 (MGI:2443219) -chr14 56799904 56810478 14q22.3 14q22.3 600037 OTX2, MCOPS5, CPHD6 Orthodenticle, Drosophila, homolog of, 2 OTX2 5015 ENSG00000165588 Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3), Autosomal dominant; Pituitary hormone deficiency, combined, 6, 613986 (3), Autosomal dominant; Microphthalmia, syndromic 5, 610125 (3), Autosomal dominant Otx2 (MGI:97451) -chr14 57200506 57268904 14q22.3 14q22.3 604469 EXOC5, SEC10L1 Exocyst complex component 5 EXOC5 10640 ENSG00000070367 Exoc5 (MGI:2145645) -chr14 57268914 57298741 14q22.3 14q22.3 614368 AP5M1, MUDENG, MUD, C14orf108 Adaptor-related protein complex 5, mu-1 subunit AP5M1 55745 ENSG00000053770 Ap5m1 (MGI:1921635) -chr14 57390585 57415905 14q22.3 14q22.3 617989 NAA30, NAT12, MAK3, C14orf35 N-alpha-acetyltransferase 30, NatC catalytic subunit NAA30 122830 ENSG00000139977 Naa30 (MGI:1922259) -chr14 58244842 58272003 14q23 14q23.1 176843 PSMA3 Proteasome (prosome, macropain) subunit, alpha type, 3 PSMA3 5684 ENSG00000100567 Psma3 (MGI:104883) -chr14 58298384 58373875 14q23.1 14q23.1 180201 ARID4A, RBP1, RBBP1 AT-rich interactive domain-containing protein 4A ARID4A 5926 ENSG00000032219 Arid4a (MGI:2444354) -chr14 58408493 58427530 14q21 14q23.1 607384 TIMM9, TIM9 Translocase of inner mitochondrial membrane 9 TIMM9 26520 ENSG00000100575 Timm9 (MGI:1353436) -chr14 58427399 58551296 14q23.1 14q23.1 610178 KIAA0586, TALPID3, JBTS23, SRTD14 KIAA0586 gene KIAA0586 9786 ENSG00000100578 Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive; Joubert syndrome 23, 616490 (3), Autosomal recessive 2700049A03Rik (MGI:1924217) -chr14 58634060 58648320 14q22.3 14q23.1 607861 DACT1, DPR1, DAPPER1, FRODO, TBS2 Dapper, antagonist of beta-catenin, 1 DACT1 51339 ENSG00000165617 mutation identified in 1 TBS2 family ?Townes-Brocks syndrome 2, 617466 (3), Autosomal dominant Dact1 (MGI:1891740) -chr14 59188656 59371404 14q23.1 14q23.1 606626 DAAM1, KIAA0666 Dishevelled-associated activator of morphogenesis 1 DAAM1 23002 ENSG00000100592 Daam1 (MGI:1914596) -chr14 59452772 59465635 14q23.1 14q23.1 607970 GPR135 G protein-coupled receptor 135 GPR135 64582 ENSG00000181619 Gpr135 (MGI:2676315) -chr14 59472605 59505265 14q23.1 14q23.1 614811 L3HYPDH, C14orf149 L-3-hydroxyproline dehydratase, trans L3HYPDH 112849 ENSG00000126790 L3hypdh (MGI:1914467) -chr14 59484494 59505409 14q23.1 14q23.1 611176 JKAMP, C24orf100, JAMP JNK1/MAPK8-associated membrane protein JKAMP 51528 ENSG00000050130 Jkampl,Jkamp (MGI:1915057,MGI:1913990) -chr14 59595975 59871287 14q21-q22 14q23.1 600865 RTN1, NSP Reticulon 1 (neuroendocrine-specific protein) RTN1 6252 ENSG00000139970 Rtn1 (MGI:1933947) -chr14 60144118 60169888 14q23.1 14q23.1 612833 DHRS7, RETSDR4 Short-chain dehydrogenase/reductase family, member 7 DHRS7 51635 ENSG00000100612 Dhrs7 (MGI:1913625) -chr14 60245749 60299086 14q23.1 14q23.1 606108 PPM1A, PP2CA Protein phosphatase, magnesium/manganese-dependent, 1A PPM1A 5494 ENSG00000100614 Ppm1a (MGI:99878) -chr14 60435953 60499773 14q23.1 14q23.1 617307 C14orf39, SIX6OS1, SPGF52, POF18 Chromosome 14 open reading frame 39 C14orf39 317761 ENSG00000179008 mutation identified in 1 POF18 patient Spermatogenic failure 52, 619202 (3), Autosomal recessive; ?Premature ovarian failure 18, 619203 (3) 4930447C04Rik (MGI:1923051) -chr14 60509145 60512849 14q23 14q23.1 606326 SIX6, ODRMD SIX homeobox 6 SIX6 4990 ENSG00000184302 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3), Autosomal recessive Six6 (MGI:1341840) -chr14 60643420 60649488 14q23 14q23.1 601205 SIX1, BOS3, DFNA23 SIX homeobox 1 SIX1 6495 ENSG00000126778 Deafness, autosomal dominant 23, 605192 (3), Autosomal dominant; Branchiootic syndrome 3, 608389 (3), Autosomal dominant Six1 (MGI:102780) -chr14 60709538 60724350 14q23 14q23.1 606342 SIX4 SIX homeobox 4 SIX4 51804 ENSG00000100625 Six4 (MGI:106034) -chr14 60734734 60969964 14q23 14q23.1 602659 MNAT1, MAT1 Menage a trois 1 MNAT1 4331 ENSG00000020426 Mnat1 (MGI:106207) -chr14 60971440 60981689 14q23.1 14q23.1 611023 TRMT5, TRM5, KIAA1393, COXPD26 tRNA methyltransferase 5 TRMT5 57570 ENSG00000126814 Combined oxidative phosphorylation deficiency 26, 616539 (3), Autosomal recessive Trmt5 (MGI:1923607) -chr14 60981121 61083732 14q23.1 14q23.1 616518 SLC38A6, SNAT6 Solute carrier family 38 (amino acid transporter), member 6 SLC38A6 145389 ENSG00000139974 Slc38a6 (MGI:3648156) -chr14 61187304 61550979 14q22-q23 14q23.1 605437 PRKCH, PKCL, PRKCL Protein kinase C, eta PRKCH 5583 ENSG00000027075 {Cerebral infarction, susceptibility to}, 601367 (3), Multifactorial Prkch (MGI:97600) -chr14 61277369 61281337 14q23.1 14q23.1 611029 TMEM30B, CDC50B Transmembrane protein 30B TMEM30B 161291 ENSG00000182107 Tmem30b (MGI:2442082) -chr14 61600000 64300000 14q23.2 609113 TELM Telomere length, mean leukocyte 550641 suggestive QTL on 12, 10q, 3p [Telomere length, mean leukocyte], 609113 (2) -chr14 61681040 61695822 14q23.2 14q23.2 614528 HIF1AAS1 HIF1A antisense RNA 1 HIF1A-AS1 100750246 ENSG00000258777 -chr14 61695512 61748257 14q21-q24 14q23.2 603348 HIF1A, MOP1 Hypoxia-inducible factor 1, alpha subunit HIF1A 3091 ENSG00000100644 Hif1a (MGI:106918) -chr14 61747038 61749088 14q23.2 14q23.2 614529 HIF1AAS2 HIF1A antisense RNA 2 HIF1A-AS2 100750247 -chr14 61762419 61796427 14q23.2 14q23.2 600591 SNAPC1, SNAP43 Small nuclear RNA-activating protein complex, polypeptide 1 SNAPC1 6617 ENSG00000023608 Snapc1 (MGI:1922877) -chr14 61812161 62112824 14q23.1 14q23.2 610950 SYT16, STREP14 Synaptotagmin 16 SYT16 83851 ENSG00000139973 Syt16 (MGI:2673872) -chr14 62699463 63045457 14q23.2 14q23.2 605716 KCNH5 Potassium voltage-gated channel, subfamily H, member 5 KCNH5 27133 ENSG00000140015 Kcnh5 (MGI:3584508) -chr14 63204411 63293507 14q23.2 14q23.2 607653 RHOJ, ARHJ, TCL Ras homolog gene family, member J RHOJ 57381 ENSG00000126785 Rhoj (MGI:1931551) -chr14 63312834 63318934 14q23.2 14q23.2 609652 GPHB5, GPB5 Glycoprotein hormone, beta-5 GPHB5 122876 ENSG00000179600 Gphb5 (MGI:2156540) -chr14 63371363 63543376 14q23.1 14q23.2 601647 PPP2R5E Protein phosphatase-2, regulatory subunit B (B56), epsilon isoform PPP2R5E 5529 ENSG00000154001 incorrectly assigned to 7p12-p11.2 by FISH Ppp2r5e (MGI:1349473) -chr14 63684215 63728107 14q22.1 14q23.2 612826 SGPP1, SPPASE1 Sphingosine-1-phosphate phosphatase 1 SGPP1 81537 ENSG00000126821 Sgpp1 (MGI:2135760) -chr14 63761903 64226448 14q23 14q23.2 608442 SYNE2, NUANCE, KIAA1011, EDMD5 Spectrin repeat-containing nuclear envelope protein 2 (nesprin 2) SYNE2 23224 ENSG00000054654 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3), Autosomal dominant Syne2 (MGI:2449316) -chr14 64226706 64338630 14q 14q23.2-q23.3 601663 ESR2, ODG8 Estrogen receptor-2 (ER beta) ESR2 2100 ENSG00000140009 mutation identified in 1 ODG8 patient ?Ovarian dysgenesis 8, 618187 (3), Autosomal dominant Esr2 (MGI:109392) -chr14 64300000 67400000 14q23 612162 ANIB8 Aneurysm, intracranial berry, 8 100188886 associated with rs767603 Aneurysm, intracranial berry, 8, 612162 (2) -chr14 64300000 67400000 14q23 606972 EIG2 Epilepsy, idiopathic generalized, susceptibility to, 2 353124 {Epilepsy, idiopathic generalized, susceptibility to, 2}, 606972 (2) -chr14 64388352 64460024 14q24 14q23.3 172460 MTHFD1, MTHFC, CIMAH Methylenetetrahydrofolate dehydrogenase 1 MTHFD1 4522 ENSG00000100714 trifunctional protein {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive Mthfd1 (MGI:1342005) -chr14 64449105 64505212 14q23-q24 14q23.3 194541 ZBTB25, ZNF46, KUP Zinc finger and BTB domain containing 25 ZBTB25 7597 ENSG00000089775 Zbtb25 (MGI:99197) -chr14 64465498 64474502 14q23.3 14q23.3 604688 AKAP5, AKAP79 A-kinase anchor protein 5 AKAP5 9495 ENSG00000179841 Akap5 (MGI:2685104) -chr14 64504725 64533692 14q23.3 14q23.3 616578 ZBTB1 Zinc finger- and BTB domain-containing protein 1 ZBTB1 22890 ENSG00000126804 Zbtb1 (MGI:2442326) -chr14 64535904 64543236 14q24.1 14q23.3 140560 HSPA2 Heat-shock 70kD protein-2 HSPA2 3306 ENSG00000126803 Hspa2 (MGI:96243) -chr14 64704127 64750248 14q23.3 14q23.3 617940 PLEKHG2, ARHGEF43, KIAA0599 Pleckstrin homology domain- and RhoGEF domain-containing protein G3 PLEKHG3 26030 ENSG00000126822 Plekhg3 (MGI:2388284) -chr14 64744105 64879906 14q23.3 14q23.3 182870 SPTB, SPH2, EL3, HS2 Spectrin, beta, erythrocytic SPTB 6710 ENSG00000070182 Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3); Elliptocytosis-3, 617948 (3); Spherocytosis, type 2, 616649 (3), Autosomal dominant Sptb (MGI:98387) -chr14 64914454 64935367 14q23.3 14q23.3 608577 CHURC1, CHCH, C14orf52 Churchill domain-containing 1 CHURC1 91612 ENSG00000258289 Churc1 (MGI:1923684) -chr14 64939157 64942744 14q24.1 14q23.3 138319 GPX2 Glutathione peroxidase-2, gastrointestinal GPX2 2877 ENSG00000176153 Gpx2 (MGI:106609) -chr14 64986894 65062649 14q23-q24 14q23.3 134636 FNTB Farnesyltransferase, CAAX box, beta FNTB 2342 ENSG00000257365 related FNTBL1 on 9 Fntb (MGI:1861305) -chr14 65006100 65102694 14q23 14q23.3 154950 MAX MAX protein MAX 4149 ENSG00000125952 interacts with MYC {Pheochromocytoma, susceptibility to}, 171300 (3), Autosomal dominant Max (MGI:96921) -chr14 65410591 65744121 14q23 14q23.3 602589 FUT8, CDGF1 Fucosyltransferase 8 FUT8 2530 ENSG00000033170 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3), Autosomal recessive Fut8 (MGI:1858901) -chr14 66507933 67181804 14q24 14q23.3 603930 GPHN, GPH, KIAA1385, GEPH, MOCODC Gephyrin GPHN 10243 ENSG00000171723 Molybdenum cofactor deficiency C, 615501 (3), Autosomal recessive Gphn (MGI:109602) -chr14 67241394 67336060 14q23.3 14q23.3 606958 MPP5, PALS1 Membrane protein, palmitoylated 5 PALS1 64398 ENSG00000072415 Pals1 (MGI:1927339) -chr14 67337871 67359803 14q24 14q23.3 609398 ATP6V1D, ATP6M ATPase, H+ transporting, V1 subunit D ATP6V1D 51382 ENSG00000100554 Atp6v1d (MGI:1921084) -chr14 67360327 67386515 14q23.3 14q23.3 603907 EIF2S1 Eukaryotic translation initiation factor 2, subunit 1 EIF2S1 1965 ENSG00000134001 Eif2s1 (MGI:95299) -chr14 67386983 67412164 14q23.3 14q23.3-q24.1 608007 PLEK2 Pleckstrin 2 PLEK2 26499 ENSG00000100558 Plek2 (MGI:1351466) -chr14 67470268 67533849 14q24.1 14q24.1 619022 TMEM229B Transmembrane protein 229B TMEM229B 161145 ENSG00000198133 Tmem229b (MGI:2444389) -chr14 67589305 67600301 14q24.1 14q24.1 600154 PIGH Phosphatidylinositol glycan, class H PIGH 5283 ENSG00000100564 Glycosylphosphatidylinositol biosynthesis defect 17, 618010 (3), Autosomal recessive Pigh (MGI:99463) -chr14 67619919 67651707 14q24.1-q24.3 14q24.1 107830 ARG2 Arginase II ARG2 384 ENSG00000081181 Arg2 (MGI:1330806) -chr14 67647084 67674631 14q24.1 14q24.1 603207 VTI1B, VTI1, VTI1L Vesicle transport through interaction with T-snares 1B VTI1B 10490 ENSG00000100568 Vti1b (MGI:1855688) -chr14 67676799 67695763 14q23.3 14q24.1 607849 RDH11, PSDR1, RALR1, RDJCSS Retinol dehydrogenase 11 RDH11 51109 ENSG00000072042 mutation identified in 1 RDJCSS family ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3), Autosomal recessive Rdh11 (MGI:102581) -chr14 67701885 67734450 14q23.3 14q24.1 608830 RDH12, LCA13 Retinol dehydrogenase 12 RDH12 145226 ENSG00000139988 near RDH11 Leber congenital amaurosis 13, 612712 (3), Autosomal dominant, Autosomal recessive Rdh12 (MGI:1925224) -chr14 67728891 67817292 14q24.1 14q24.1 612012 ZFYVE26, KIAA0321, SPG15 Zinc finger FYVE domain-containing protein 26 ZFYVE26 23503 ENSG00000072121 Spastic paraplegia 15, autosomal recessive, 270700 (3), Autosomal recessive Zfyve26 (MGI:1924767) -chr14 67819778 68683095 14q23.3-q24 14q24.1 602948 RAD51B, RAD51L1 RAD51 paralog B RAD51B 5890 ENSG00000182185 fused with HMGA2 in uterine leiomyoma Rad51b (MGI:1099436) -chr14 68787654 68796242 14q22-q24 14q24.1 601064 ZFP36L1, BRF1, ERF1 Zinc finger protein 36, C3H type-like 1 (butyrate response factor 1; EGF-response factor 1) ZFP36L1 677 ENSG00000185650 Zfp36l1 (MGI:107946) -chr14 68874122 68979301 14q24.1 14q24.1 102575 ACTN1, BDPLT15 Actinin, alpha-1 ACTN1 87 ENSG00000072110 Bleeding disorder, platelet-type, 15, 615193 (3), Autosomal dominant Actn1 (MGI:2137706) -chr14 69050880 69153392 14q24.1-q24.2 14q24.1 603812 DCAF5, WDR22, BCRP2, D14S1461E DDB1- and CUL4-associated factor 5 DCAF5 8816 ENSG00000139990 Dcaf5 (MGI:2444785) -chr14 69191497 69244017 14q24.1 14q24.1 616940 EXD2, EXDL2 Exonuclease 3'-to-5' domain-containing protein 2 EXD2 55218 ENSG00000081177 Exd2 (MGI:1922485) -chr14 69259545 69379903 14q24.1 14q24.1 615132 GALNT16, GALNACT16, GALNTL1, KIAA1130 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GALNT16 57452 ENSG00000100626 Galnt16 (MGI:1917754) -chr14 69380127 69398298 14q24.1 14q24.1 601191 ERH ERH mRNA splicing and mitosis factor ERH 2079 ENSG00000100632 possible pseudogene on 7q34 Gm10131,Erh (MGI:3704308,MGI:108089) -chr14 69398373 69462389 14q24.1 14q24.1 619116 SLC39A9, ZIP9 Solute carrier family 39 (zinc transporter), member 9 SLC39A9 55334 ENSG00000029364 Slc39a9 (MGI:1914820) -chr14 69611595 69715143 14q24.1 14q24.1 616761 SUSD6, DRAGO, KIAA0247 SUSHI domain-containing protein 6 SUSD6 9766 ENSG00000100647 Susd6 (MGI:2444661) -chr14 69767111 69772004 14q24.2 14q24.1 600914 SRSF5, SFRS5, SRp40 Splicing factor, serine/arginine-rich, 5 SRSF5 6430 ENSG00000100650 Srsf5 (MGI:98287) -chr14 69775415 69797240 14q24.1 14q24.1 182396 SLC10A1, NTCP1, FHCA2 Solute carrier family 10 (sodium/bile acid cotransporter family), member 1 SLC10A1 6554 ENSG00000100652 Hypercholanemia, familial 2, 619256 (3), Autosomal recessive Slc10a1 (MGI:97379) -chr14 69879387 70032365 14q24.1 14q24.2 608488 SMOC1, OAS SPARC-related modular calcium-binding 1 SMOC1 64093 ENSG00000198732 Microphthalmia with limb anomalies, 206920 (3), Autosomal recessive Smoc1 (MGI:1929878) -chr14 70044214 70189625 14q24.2 14q24.2 607991 SLC8A3, NCX3 Solute carrier family 8 (sodium-calcium exchanger), member A3 SLC8A3 6547 ENSG00000100678 Slc8a3 (MGI:107976) -chr14 70325080 70359682 14q24.1 14q24.2 618064 COX16, MC4DN22 Cytochrome c oxidase assembly factor 16 COX16 51241 ENSG00000133983 Mitochondrial complex IV deficiency, nuclear type 22, 619355 (3), Autosomal recessive Cox16 (MGI:1913522) -chr14 70366498 70417089 14q24.2 14q24.2 609411 SYNJ2BP, OMP25, ARIP2 Synaptojanin 2-binding protein SYNJ2BP 55333 ENSG00000213463 Synj2bp,Gm20498 (MGI:1344347,MGI:5141963) -chr14 70452173 70459904 14q24.1 14q24.2 603713 ADAM21 ADAM metallopeptidase domain 21 ADAM21 8747 ENSG00000139985 Adam21 (MGI:1861229) -chr14 70520816 70564741 14q24.1 14q24.2 603712 ADAM20 ADAM metallopeptidase domain 20 ADAM20 8748 ENSG00000134007 Adam20,Adam25,Adam39 (MGI:3045694,MGI:1345157,MGI:2152342) -chr14 70583220 70600654 14q24.2 14q24.2 602984 MED6 Mediator complex subunit 6 MED6 10001 ENSG00000133997 Med6 (MGI:1917042) -chr14 70641915 70675365 14q24.2 14q24.2 610488 TTC9, KIAA0227 Tetratricopeptide repeat domain-containing protein 9 TTC9 23508 ENSG00000133985 Ttc9 (MGI:1916730) -chr14 70722525 70809512 14q24.3-q31 14q24.2 600136 MAP3K9, MLK1 Mitogen-activated protein kinase kinase kinase 9 MAP3K9 4293 ENSG00000006432 Map3k9 (MGI:2449952) -chr14 70907442 71115381 14q24.2 14q24.2 617655 PCNX1, KIAA0995 Pecanex 1 PCNX1 22990 ENSG00000100731 Pcnx (MGI:1891924) -chr14 71320417 71741208 14q24.2 14q24.2 617504 SIPA1L1, E6TP1, KIAA0440 SIPA1-like protein 1 SIPA1L1 26037 ENSG00000197555 Sipa1l1 (MGI:2443679) -chr14 71867396 72632477 14q24.3 14q24.2 603894 RGS6 Regulator of G protein signaling 6 RGS6 9628 ENSG00000182732 Rgs6 (MGI:1354730) -chr14 72609033 72894100 14q24.3-q31.1 14q24.2 601672 DPF3, CERD4 D4, zinc and double PHD fingers, family 3 DPF3 8110 ENSG00000205683 Dpf3 (MGI:1917377) -chr14 72926336 72962097 14q24.2 14q24.2 616372 DCAF4, WDR21, WDR21A DDB1- and CUL4-associated factor 4 DCAF4 26094 ENSG00000119599 Dcaf4 (MGI:1921078) -chr14 72969444 73027135 14q22-q24 14q24.2 605471 ZFYVE1, ZNFN2A1, DFCP1, TAFF1 Zinc finger FYVE type-containing protein 1 ZFYVE1 53349 ENSG00000165861 Zfyve1 (MGI:3026685) -chr14 73058531 73123898 14q24.2 14q24.2 612427 RBM25, RED120 RNA-binding motif protein 25 RBM25 58517 ENSG00000119707 Rbm25 (MGI:1914289) -chr14 73136435 73223690 14q24.3 14q24.2 104311 PSEN1, AD3, ACNINV3 Presenilin 1 PSEN1 5663 ENSG00000080815 mutation identified in 1 ACNINV3 family Pick disease, 172700 (3), Autosomal dominant; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3), Autosomal dominant; Dementia, frontotemporal, 600274 (3), Autosomal dominant; ?Acne inversa, familial, 3, 613737 (3), Autosomal dominant; Cardiomyopathy, dilated, 1U, 613694 (3), Autosomal dominant; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3), Autosomal dominant; Alzheimer disease, type 3, 607822 (3), Autosomal dominant Psen1 (MGI:1202717) -chr14 73235840 73274622 14q24.2 14q24.2 617785 PAPLN, PPN Papilin, proteoglycan-like sulfated glycoprotein PAPLN 89932 ENSG00000100767 Papln (MGI:2386139) -chr14 73275215 73458545 14q24.3 14q24.2-q24.3 603728 NUMB, S171 Numb, Drosophila, homolog of NUMB 8650 ENSG00000133961 Numb (MGI:107423) -chr14 73300000 78800000 14q24.3 613085 GLC3C Glaucoma 3, primary congenital, C 399565 between D14S61 and D14S1000 Glaucoma 3, primary congenital, C, 613085 (2) -chr14 73300000 89300000 14q24.3-q31 601208 IDDM11 Insulin-dependent diabetes mellitus-11 3410 {Diabetes mellitus, insulin-dependent, 11}, 601208 (2) -chr14 73300000 78800000 14q24.3 614628 KTCN8 Keratoconus 8 100885803 between rs1074501 and rs755212 Keratoconus 8, 614628 (2), Autosomal dominant -chr14 73300000 78800000 14q24.3 612083 MUSTQTL1 Muscle strength quantitative trait locus 1 100192311 Muscle strength quantitative trait locus 1, 612083 (2) -chr14 73490932 73493393 14q24.3 14q24.3 611919 RIOX1, C14orf169, NO66, MAPJD Ribosomal oxygenase 1 RIOX1 79697 ENSG00000170468 Riox1 (MGI:1919202) -chr14 73493020 73543798 14q24.3 14q24.3 614313 ACOT1 Acyl-CoA thioesterase 1 ACOT1 641371 ENSG00000184227 Acot1,Acot2,Acot5,Acot3 (MGI:1349396,MGI:2159605,MGI:2384969,MGI:2159619) -chr14 73567619 73575657 14q24.3 14q24.3 609972 ACOT2, PTE2, MTE1 Acyl-CoA thioesterase 2 ACOT2 10965 ENSG00000119673 Acot2 (MGI:2159605) -chr14 73591872 73595765 14q24.3 14q24.3 614314 ACOT4 Acyl-CoA thioesterase 4 ACOT4 122970 ENSG00000177465 ?pseudogene on 19q13.12 Acot4 (MGI:2159621) -chr14 73610944 73619887 14q24.3 14q24.3 614267 ACOT6 Acyl-CoA thioesterase 6 ACOT6 641372 ENSG00000205669 Acot6 (MGI:1921287) -chr14 73644985 73703731 14q24.3 14q24.3 610062 DNAL1, C14orf168, CILD16 Dynein, axonemal, light chain 1 DNAL1 83544 ENSG00000119661 Ciliary dyskinesia, primary, 16, 614017 (3), Autosomal recessive Dnal1 (MGI:1921462) -chr14 73711782 73714383 14q24.3 14q24.3 604010 PNMA1, MA1 Paraneoplastic MA antigen 1 PNMA1 9240 ENSG00000176903 Pnma1 (MGI:2180564) -chr14 73851830 73885725 14q24 14q24.3 608642 ZADH1 Zinc-binding alcohol dehydrogenase domain-containing protein 1 PTGR2 145482 ENSG00000140043 Ptgr2 (MGI:1916372) -chr14 73886858 73932520 14q24.3 14q24.3 619427 ZNF410, APA1 Zinc finger protein 410 ZNF410 57862 ENSG00000119725 Zfp410 (MGI:1289280) -chr14 73949925 73963669 14q24.3 14q24.3 614647 COQ6, CGI10, COQ10D6 Coq6, S. cerevisiae, homolog of COQ6 51004 ENSG00000119723 Coenzyme Q10 deficiency, primary, 6, 614650 (3), Autosomal recessive Coq6 (MGI:1924408) -chr14 73955328 74019325 14q24 14q24.3 603162 ENTPD5, CD39L4 Ectonucleoside triphosphate diphosphohydrolase 5 ENTPD5 957 ENSG00000187097 Entpd5 (MGI:1321385) -chr14 74056846 74084452 14q24.3 14q24.3 603178 ALDH6A1, MMSDH Aldehyde dehydrogenase 6 family, member A1 (methylmalonate semialdehyde dehydrogenase) ALDH6A1 4329 ENSG00000119711 Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3), Autosomal recessive Aldh6a1 (MGI:1915077) -chr14 74239448 74262737 14q24.3 14q24.3 142993 CHX10, HOX10, MCOP2, MCOPCB3 C. elegans ceh-10 homeo domain-containing homolog VSX2 338917 ENSG00000119614 Microphthalmia, isolated 2, 610093 (3); Microphthalmia with coloboma 3, 610092 (3) Vsx2 (MGI:88401) -chr14 74285268 74303061 14q24.3 14q24.3 603214 ABCD4, PXMP1L, P79R, PMP69, MAHCJ ATP-binding cassette, subfamily D, member 4 (peroxisomal membrane protein 1-like) ABCD4 5826 ENSG00000119688 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3), Autosomal recessive Abcd4 (MGI:1349217) -chr14 74405892 74477079 14q24.3 14q24.3 609999 SYNDIG1L, TMEM90A, CAPUCIN Synapse differentiation-induced gene 1-like SYNDIG1L 646658 ENSG00000183379 Syndig1l (MGI:2685107) -chr14 74479934 74493511 14q24.3 14q24.3 601015 NPC2, HE1 NPC intracellular cholesterol tranporter 2 NPC2 10577 ENSG00000119655 Niemann-pick disease, type C2, 607625 (3), Autosomal recessive Npc2 (MGI:1915213) -chr14 74493764 74497105 14q24.3 14q24.3 615317 ISCA2, MMDS4 Iron-sulfur cluster assembly 2 ISCA2 122961 ENSG00000165898 Multiple mitochondrial dysfunctions syndrome 4, 616370 (3), Autosomal recessive Isca2 (MGI:1921566) -chr14 74498182 74612592 14q24 14q24.3 602091 LTBP2, LTBP3, GLC3D, MSPKA, WMS3 Latent transforming growth factor beta binding protein-2 LTBP2 4053 ENSG00000119681 mutation identified in 1 WMS3 family Glaucoma 3, primary congenital, D, 613086 (3); Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3), Autosomal recessive; ?Weill-Marchesani syndrome 3, recessive, 614819 (3), Autosomal recessive Ltbp2 (MGI:99502) -chr14 74661255 74713117 14q24.3 14q24.3 615380 AREL1, KIAA0317 Apoptosis-resistant E3 ubiquitin protein ligase 1 AREL1 9870 ENSG00000119682 Arel1 (MGI:1915747) -chr14 74853032 74876662 14q24.3 14q24.3 615094 PROX2 Prospero-related homeobox 2 PROX2 283571 ENSG00000119608 Prox2 (MGI:1920672) -chr14 74881912 74903742 14q24.3 14q24.3 126063 DLST, PGL7 Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) DLST 1743 ENSG00000119689 Paragangliomas 7, 618475 (3), Autosomal dominant Dlst (MGI:1926170) -chr14 74941829 74955763 14q24-q31 14q24.3 601121 PGF, PLGF Placental growth factor, vascular endothelial growth factor-related protein PGF 5228 ENSG00000119630 Pgf (MGI:105095) -chr14 75002920 75012365 14q24 14q24.3 606454 EIF2B2 Eukaryotic translation initiation factor 2B, subunit 2 EIF2B2 8892 ENSG00000119718 Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive Eif2b2 (MGI:2145118) -chr14 75013763 75051478 14q24.3 14q24.3 604395 MLH3, HNPCC7 DNA mismatch repair gene MLH3 MLH3 27030 ENSG00000119684 {Endometrial cancer, susceptibility to}, 608089 (3), Somatic mutation, Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3) Mlh3 (MGI:1353455) -chr14 75053242 75069489 14q24.3 14q24.3 600875 ACYP1, ACYPE Acylphosphatase, erythrocyte ACYP1 97 ENSG00000119640 Acyp1 (MGI:1913454) -chr14 75079352 75127636 14q24.3 14q24.3 609798 NEK9, NERCC1, LCCS10, APUG, NC NIMA-related kinase 9 NEK9 91754 ENSG00000119638 mutation identified in 1 APUG family ?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3), Autosomal recessive; Nevus comedonicus, somatic, 617025 (3); Lethal congenital contracture syndrome 10, 617022 (3), Autosomal recessive Nek9 (MGI:2387995) -chr14 75131468 75176611 14q24.3 14q24.3 605406 TMED10, TMP21 Transmembrane p24 trafficking protein 10 TMED10 10972 ENSG00000170348 Tmed10 (MGI:1915831) -chr14 75278827 75282229 14q24.3 14q24.3 164810 FOS FOS protooncogene, AP1 transcription factor subunit FOS 2353 ENSG00000170345 Fos (MGI:95574) -chr14 75426691 75474106 14q24.3 14q24.3 608657 JDP2 JUN dimerization protein 2 JDP2 122953 ENSG00000140044 Jdp2 (MGI:1932093) -chr14 75522468 75546991 14q24 14q24.3 612476 BATF, BATF1, SFA2 Basic leucine zipper transcription factor, ATF-like BATF 10538 ENSG00000156127 Batf (MGI:1859147) -chr14 75578619 75648166 14q24.3 14q24.3 610865 FLVCR2, C14orf58, CCT, PVHH, EPV Feline leukemia virus subgroup C receptor 2 FLVCR2 55640 ENSG00000119686 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3), Autosomal recessive Flvcr2 (MGI:2384974) -chr14 75649790 75660875 14q24 14q24.3 604576 ERG28, C14orf1 Ergosterol biosynthesis 28 homolog ERG28 11161 ENSG00000133935 Erg28 (MGI:1915571) -chr14 75661245 75955078 14q24.3 14q24.3 612268 TTLL5, STAMP, KIAA0998, CORD19 Tubulin tyrosine ligase-like 5 TTLL5 23093 ENSG00000119685 Cone-rod dystrophy 19, 615860 (3), Autosomal recessive Ttll5 (MGI:2443657) -chr14 75958096 75983010 14q24 14q24.3 190230 TGFB3, ARVD1, RNHF, LDS5 Transforming growth factor, beta-3 TGFB3 7043 ENSG00000119699 Arrhythmogenic right ventricular dysplasia 1, 107970 (3), Autosomal dominant; Loeys-Dietz syndrome 5, 615582 (3), Autosomal dominant Tgfb3 (MGI:98727) -chr14 75985762 76084072 14q24.3 14q24.3 614068 IFT43, C14orf179, CED3, SRTD18, RP81 Intraflagellar transport 43 IFT43 112752 ENSG00000119650 mutation identified in 1 CED3 family and 1 RP81 family ?Cranioectodermal dysplasia 3, 614099 (3), Autosomal recessive; ?Retinitis pigmentosa 81, 617871 (3), Autosomal recessive; Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3), Autosomal recessive Ift43 (MGI:1923661) -chr14 76371270 76501838 14q24.3 14q24.3 602167 ESRRB, ESRL2, DFNB35 Estrogen-related receptor beta ESRRB 2103 ENSG00000119715 Deafness, autosomal recessive 35, 608565 (3), Autosomal recessive Esrrb (MGI:1346832) -chr14 76761456 76783016 14q24.3 14q24.3 609011 VASH1, KIAA1036 Vasohibin 1 VASH1 22846 ENSG00000071246 Vash1 (MGI:2442543) -chr14 77024542 77028707 14q24.3 14q24.3 611720 IRF2BPL, C14orf4, EAP1, NEDAMSS Interferon regulatory factor 2-binding protein like IRF2BPL 64207 ENSG00000119669 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3), Autosomal dominant Irf2bpl (MGI:2442463) -chr14 77098257 77117286 14q24.3 14q24.3 616995 CIPC, KIAA1737 Clock-interacting pacemaker CIPC 85457 ENSG00000198894 Cipc (MGI:1919185) -chr14 77265482 77271205 14q24 14q24.3 605304 NGB Neuroglobin NGB 58157 ENSG00000165553 Ngb (MGI:2151886) -chr14 77274955 77320884 14q24.3 14q24.3 607439 POMT2, MDDGA2, MDDGB2, MDDGC2, LGMDR14 Putative protein O-mannosyltransferase 2 POMT2 29954 ENSG00000009830 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3), Autosomal recessive Pomt2 (MGI:2444430) -chr14 77321001 77331596 14q24.3 14q24.3 603758 GSTZ1, MAAI, MAAID Glutathione S-transferase, zeta-1 (maleylacetoacetate isomerase) GSTZ1 2954 ENSG00000100577 [Maleylacetoacetate isomerase deficiency], 617596 (3), Autosomal recessive Gstz1 (MGI:1341859) -chr14 77426674 77457726 14q24.3 14q24.3 613401 VIPAS39, VIPAR, SPE39, C14orf133 VPS33B-interacting protein, apical-basolateral polarity regulator, spe-39 homolog VIPAS39 63894 ENSG00000151445 Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3), Autosomal recessive Vipas39 (MGI:2144805) -chr14 77457866 77469471 14q24.3 14q24.3 608466 AHSA1, AHA1 Activator of heat-shock 90kD protein ATPase 1 AHSA1 10598 ENSG00000100591 Ahsa1 (MGI:2387603) -chr14 77474393 77498815 14q24.3 14q24.3 612684 ISM2, THSD3, TAIL1 Isthmin 2 ISM2 145501 ENSG00000100593 Ism2 (MGI:2685110) -chr14 77505996 77616662 14q24.3-q31 14q24.3 605713 SPTLC2, KIAA0526, SPT2, LCB2, HSN1C, NSAN1C Serine palmitoyltransferase, long-chain base subunit 2 SPTLC2 9517 ENSG00000100596 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3), Autosomal dominant Sptlc2 (MGI:108074) -chr14 77672403 77708037 14q24 14q24.3 605345 ALKBH1, ALKB AlkB homolog 1, histone H2A dioxygenase ALKBH1 8846 ENSG00000100601 Alkbh1 (MGI:2384034) -chr14 77708070 77717597 14q24.3 14q24.3 610211 SLIRP, C14orf156 SRA stem loop-interacting RNA-binding protein SLIRP 81892 ENSG00000119705 Slirp (MGI:1916394) -chr14 77717598 77761155 14q24.3 14q24.3 603055 SKIIP, SKIP, SNW1, BX42 SKI-interacting protein SNW1 22938 ENSG00000100603 Snw1 (MGI:1913604) -chr14 77979903 79868290 14q24.3-q31.1 14q24.3-q31.1 600567 NRXN3 Neurexin 3 NRXN3 9369 ENSG00000021645 Nrxn3 (MGI:1096389) -chr14 80197525 80231056 14q24.3 14q31.1 601413 DIO2, TXDI2, D2 Deiodinase, iodothyronine, type II DIO2 1734 ENSG00000211448 Dio2 (MGI:1338833) -chr14 80954988 81146305 14q31 14q31.1 603372 TSHR, CHNG1 Thyroid-stimulating hormone receptor TSHR 7253 ENSG00000165409 Hyperthyroidism, familial gestational, 603373 (3), Autosomal dominant; Hyperthyroidism, nonautoimmune, 609152 (3), Autosomal dominant; Thyroid adenoma, hyperfunctioning, somatic (3); Thyroid carcinoma with thyrotoxicosis (3); Hypothyroidism, congenital, nongoitrous, 1, 275200 (3), Autosomal recessive Tshr (MGI:98849) -chr14 81175451 81221389 14q31.1 14q31.1 600520 GTF2A1, TF2A1 General transcription factor IIA, alpha/beta subunits GTF2A1 2957 ENSG00000165417 Gtf2a1 (MGI:1933277) -chr14 81260651 81436464 14q13.1 14q31.1 608467 STON2, STN2, STNB Stonin 2 STON2 85439 ENSG00000140022 Ston2 (MGI:1918272) -chr14 81471546 81533852 14q31 14q31.1 602329 SEL1L Suppressor of lin 12 (sel-1), C. elegans, homolog of SEL1L 6400 ENSG00000071537 Sel1l (MGI:1329016) -chr14 84400000 89300000 14q31 275000 GRD1 Graves disease, susceptibility to, 1 100312954 associated with rs2268458 {Graves disease, susceptibility to, 1}, 275000 (2), Autosomal recessive -chr14 84400000 89300000 14q31 614187 HPPD Hypertelorism, preauricular sinus, punctal pits, and deafness 100682260 Hypertelorism, preauricular sinus, punctal pits, and deafness, 614187 (2), Autosomal dominant -chr14 85527371 85654427 14q24-q32 14q31.3 604807 FLRT2 Fibronectin-like domain-containing leucine-rich transmembrane protein-2 FLRT2 23768 ENSG00000185070 Flrt2 (MGI:3603594) -chr14 87933013 87993664 14q31 14q31.3 606890 GALC Galactosylceramidase GALC 2581 ENSG00000054983 Krabbe disease, 245200 (3), Autosomal recessive Galc (MGI:95636) -chr14 88005134 88014810 14q31-q32.1 14q31.3 604620 GPR65, TDAG8 G protein-coupled receptor 65 GPR65 8477 ENSG00000140030 Gpr65 (MGI:108031) -chr14 88180107 88326911 14q31 14q31.3 605873 KCNK10, TREK2 Potassium channel, subfamily K, member 10 KCNK10 54207 ENSG00000100433 Kcnk10 (MGI:1919508) -chr14 88385637 88470349 14q31.3 14q31.3 609868 SPATA7, HSD3, LCA3 Spermatogenesis-associated protein 7 SPATA7 55812 ENSG00000042317 Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3); Leber congenital amaurosis 3, 604232 (3) Spata7 (MGI:2144877) -chr14 88465777 88555006 14q31.3 14q31.3 603271 PTPN21, PTPD1 Protein-tyrosine phosphatase, nonreceptor-type, 21 PTPN21 11099 ENSG00000070778 Ptpn21 (MGI:1344406) -chr14 88562981 88627595 14q31.3 14q31.3 613279 ZC3H14, SUT2, MRT56 Zinc finger CCCH domain-containing protein 14 ZC3H14 79882 ENSG00000100722 Mental retardation, autosomal recessive 56, 617125 (3), Autosomal recessive Zc3h14 (MGI:1919824) -chr14 88612147 88792952 14q31.3 14q31.3 618119 EML5 Echinoderm microtubule-associated protein-like 5 EML5 161436 ENSG00000165521 Eml5 (MGI:2442513) -chr14 88824152 88881078 14q32.1 14q31.3 608132 TTC8, BBS8, RP51 Tetratricopeptide repeat domain 8 TTC8 123016 ENSG00000165533 mutation identified in 1 RP51 family Bardet-Biedl syndrome 8, 615985 (3), Autosomal recessive; ?Retinitis pigmentosa 51, 613464 (3), Autosomal recessive Ttc8 (MGI:1923510) -chr14 89156176 89619164 14q24.3-q31 14q-q 602628 FOXN3, CHES1 Forkhead box N3 FOXN3 1112 ENSG00000053254 Foxn3 (MGI:1918625) -chr14 89954922 90044767 14q31-q32 14q32.11 607198 TDP1, SCAN1 Tyrosyl-DNA phosphodiesterase 1 TDP1 55775 ENSG00000042088 mutation identified in 1 SCAN1 family ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, 607250 (3), Autosomal recessive Tdp1 (MGI:1920036) -chr14 90061993 90185852 14q24.1-q24.3 14q32.11 607367 KCNK13, THIK1 Potassium channel, subfamily K, member 13 KCNK13 56659 ENSG00000152315 Kcnk13 (MGI:2384976) -chr14 90256552 90275428 14q32.11 14q32.11 602706 PSMC1, S4 Proteasome 26S subunit, ATPase, 1 PSMC1 5700 ENSG00000100764 previously assigned to 19p13.3 by FISH Psmc1 (MGI:106054) -chr14 90267859 90331968 14q32.11 14q32.11 618631 NRDE2, C14orf102 NRDE2, necessary for RNA interference, domain containing NRDE2 55051 ENSG00000119720 Nrde2 (MGI:2670969) -chr14 90396501 90408267 14q24-q31 14q32.11 114180 CALM1, PHKD, CPVT4, LQT14 Calmodulin-1 (phosphorylase kinase, delta) CALM1 801 ENSG00000198668 Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3), Autosomal dominant; Long QT syndrome 14, 616247 (3), Autosomal dominant Calm3,Calm1 (MGI:103249,MGI:88251) -chr14 90847860 91060640 14q31-q32 14q32.11 603607 RPS6KA5, MSK1 Ribosomal protein S6 kinase A5 RPS6KA5 9252 ENSG00000100784 Rps6ka5 (MGI:1920336) -chr14 91232531 91264580 14q31 14q32.11 601404 GPR68, OGR1, AI2A6 G protein-coupled receptor 68 GPR68 8111 ENSG00000119714 Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3), Autosomal recessive Gpr68 (MGI:2441763) -chr14 91271322 91417819 14q32.11 14q32.11-q32.12 611204 CCDC88C, HKRP2, DAPLE, KIAA1509, HYC1, SCA40 Coiled-coil domain-containing protein 88C CCDC88C 440193 ENSG00000015133 mutation identified in 1 SCA40 family ?Spinocerebellar ataxia 40, 616053 (3), Autosomal dominant; Hydrocephalus, congenital, 1, 236600 (3), Autosomal recessive Ccdc88c (MGI:1915589) -chr14 91457507 91510553 14q32.12 14q32.12 610351 PPP4R3A, SMEK1, PP4R3A, KIAA2010 Protein phosphatase 4, regulatory subunit 3, alpha PPP4R3A 55671 ENSG00000100796 Ppp4r3a (MGI:1915984) -chr14 91580697 91732085 14q32.12 14q32.12 611169 CATSPERB, C14orf161 Cation channel, sperm-associated, beta CATSPERB 79820 ENSG00000133962 Catsperb (MGI:2443988) -chr14 91779745 91867535 14q32.12 14q32.12 619305 TC2N, TAC2N Tandem C2 domains protein, nuclear TC2N 123036 ENSG00000165929 Tc2n (MGI:1921663) -chr14 91869410 91947693 14q32.1 14q32.12 604580 FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD Fibulin 5 FBLN5 10516 ENSG00000140092 mutation identified in 1 ADCL2 patient Cutis laxa, autosomal recessive, type IA, 219100 (3), Autosomal recessive; Macular degeneration, age-related, 3, 608895 (3), Autosomal dominant; Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3), Autosomal dominant; ?Cutis laxa, autosomal dominant 2, 614434 (3), Autosomal dominant Fbln5 (MGI:1346091) -chr14 91965990 92040133 14q31-q32 14q32.12 604505 TRIP11, TRIP230, CEV14, ACG1A, ODCD1 Thyroid hormone receptor interactor 11 TRIP11 9321 ENSG00000100815 Odontochondrodysplasia 1, 184260 (3), Autosomal recessive; Achondrogenesis, type IA, 200600 (3), Autosomal recessive Trip11 (MGI:1924393) -chr14 92058551 92106581 14q32.12 14q32.12 607047 ATXN3, MJD, SCA3 Ataxin-3 (josephin) ATXN3 4287 ENSG00000066427 Machado-Joseph disease, 109150 (3), Autosomal dominant Atxn3 (MGI:1099442) -chr14 92116122 92121705 14q32.12 14q32.12 603837 NDUFB1 NADH-ubiquinone oxidoreductase subunit B1 NDUFB1 4707 ENSG00000183648 -chr14 92121968 92172144 14q32.12 14q32.12 606028 CPSF2, CPSF100 Cleavage and polyadenylation specificity factor 2 CPSF2 53981 ENSG00000165934 Cpsf2 (MGI:1861601) -chr14 92322580 92501480 14q32 14q32.12 609840 SLC24A4, NCKX4, SHEP6, AI2A5 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 SLC24A4 123041 ENSG00000140090 [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3), Autosomal recessive; Amelogenesis imperfecta, type IIA5, 615887 (3), Autosomal recessive; [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3), Autosomal recessive Slc24a4 (MGI:2447362) -chr14 92513772 92688993 17q32.12 14q32.12 610223 RIN3, FLJ22349 Ras and Rab interactor 3 RIN3 79890 ENSG00000100599 Rin3 (MGI:2385708) -chr14 92703808 92748626 14q32.1 14q32.12 602620 LGMN, PRSC1 Legumain (protease, cysteine, 1) LGMN 5641 ENSG00000100600 Lgmn (MGI:1330838) -chr14 92794304 92839946 14q32.12 14q32.12 606918 GOLGA5, RFG5 Golgin A5 GOLGA5 9950 ENSG00000066455 fused with RET to form PTC5 Golga5 (MGI:1351475) -chr14 92922593 92935292 14q32 14q32.12 118910 CHGA Chromogranin A, parathyroid secretory protein-1 CHGA 1113 ENSG00000100604 Chga (MGI:88394) -chr14 92936913 93115924 14q32.12 14q32.12 601838 ITPK1, ITRPK1 Inositol 1,3,4-trisphosphate 5/6-kinase ITPK1 3705 ENSG00000100605 Itpk1 (MGI:2446159) -chr14 93182198 93184896 14q32.12 14q32.12 609485 MOAP1, MAP1, PNMA4 Modulator of apoptosis 1 MOAP1 64112 ENSG00000165943 Moap1 (MGI:1915555) -chr14 93184973 93188462 14q32.12 14q32.12 619332 TMEM251, C14orf109, DMAN Transmembrane protein 251 TMEM251 26175 ENSG00000153485 Dysostosis multiplex, Ain-Naz type, 619345 (3), Autosomal recessive Tmem251 (MGI:2443862) -chr14 93202893 93207064 14q32.12 14q32.12 617436 GON7, C14orf142 Gon7, S. cerevisiae, homolog of GON7 84520 ENSG00000170270 Gon7 (MGI:4845848) -chr14 93207255 93229214 14q32.12 14q32.12 613816 UBR7, LICAS Ubiquitin protein ligase E3 component N-recognin 7 UBR7 55148 ENSG00000012963 Li-Campeau syndrome, 619189 (3), Autosomal recessive Ubr7 (MGI:1913872) -chr14 93237549 93333035 14q32.1 14q32.12 610386 BTBD7, FUP1 BTB/POX domain-containing protein 7 BTBD7 55727 ENSG00000011114 Btbd7 (MGI:1917858) -chr14 93333181 93710472 14q32.12 14q32.12 616884 UNC79 unc-79 homolog, NALCN channel complex subunit UNC79 57578 ENSG00000133958 Unc79 (MGI:2684729) -chr14 93347181 93348355 14q32.12 14q32.12 616855 COX8C Cytochrome c oxidase, subunit 8c COX8C 341947 ENSG00000187581 Cox8c (MGI:1922733) -chr14 93718297 93789028 14q32.12 14q32.12 613851 PRIMA1, PRIMA Proline-rich membrane anchor 1 PRIMA1 145270 ENSG00000175785 Prima1 (MGI:1926097) -chr14 93934159 93976738 14q32.12 14q32.12 605759 ASB2 Ankyrin repeat-containing SOCS box protein 2 ASB2 51676 ENSG00000100628 Asb2 (MGI:1929743) -chr14 94026339 94048929 14q32.12 14q32.12 608338 OTUB2, OTU2, OTB2, C14orf137 OTU domain-containing ubiquitin aldehyde-binding protein 2 OTUB2 78990 ENSG00000089723 Otub2 (MGI:1915399) -chr14 94048286 94081201 14q32 14q32.12 606181 DDX24 DEAD-box helicase 24 DDX24 57062 ENSG00000089737 Ddx24 (MGI:1351337) -chr14 94081307 94102709 14q32.12 14q32.12 611320 IFI27L1, ISG12C, FAM14B Interferon-alpha-inducible protein 27-like 1 IFI27L1 122509 ENSG00000165948 Ifi27l2a (MGI:1924183) -chr14 94110735 94116689 14q32 14q32.12 600009 IFI27 Interferon, alpha-inducible protein-27 IFI27 3429 ENSG00000165949 Ifi27 (MGI:1277180) -chr14 94127780 94129603 14q32.12 14q32.12 611319 IFI27L2, FAM14A, ISG12B Interferon alpha inducible protein 27 like 2 IFI27L2 83982 ENSG00000119632 Ifi27l2b,Ifi27l2a (MGI:1916390,MGI:1924183) -chr14 94174321 94279733 14q32.13 14q32.12-q32.13 616790 PPP4R4, PP4R4, KIAA1622 Protein phosphatase 4, regulatory subunit 4 PPP4R4 57718 ENSG00000119698 Ppp4r4 (MGI:1921771) -chr14 94200000 95800000 14q32.1 107410 SERPINA2P, PIL, ATR, ARGS Serpin peptidase inhibitor, clade A, member 2, pseudogene SERPINA2 390502 ENSG00000258597 ?pseudogene -chr14 94280459 94293352 14q32.1 14q32.13 605271 SERPINA10, ZPI Serine (or cysteine) proteinase inhibitor, clade A, member 10 (protein Z-dependent protease inhibitor precursor) SERPINA10 51156 ENSG00000140093 Serpina10 (MGI:2667725) -chr14 94304247 94323335 14q32.1 14q32.13 122500 CBG, SERPINA6 Corticosteroid-binding globulin SERPINA6 866 ENSG00000170099 Corticosteroid-binding globulin deficiency, 611489 (3), Autosomal dominant, Autosomal recessive Serpina6 (MGI:88278) -chr14 94376746 94390653 14q32.1 14q32.13 107400 SERPINA1, PI, AAT Alpha-1-antitrypsin (serpin peptidase inhibitor, clade A, member 1) SERPINA1 5265 ENSG00000197249 Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3), Autosomal recessive; Emphysema due to AAT deficiency, 613490 (3), Autosomal recessive; Emphysema-cirrhosis, due to AAT deficiency, 613490 (3), Autosomal recessive Serpina1e,Serpina1c,Serpina1d,Serpina1b (MGI:891970,MGI:891968,MGI:891969,MGI:891967) -chr14 94462720 94476226 14q32 14q32.13 615677 SERPINA9, GCET1, CENTERIN Serpin peptidase inhibitor, clade A, member 9 SERPINA9 327657 ENSG00000170054 Serpina9 (MGI:1919157) -chr14 94481650 94517843 14q32.1 14q32.13 617471 SERPINA12, VASPIN Serpin peptidase inhibitor, clade A, member 12 (vaspin) SERPINA12 145264 ENSG00000165953 Serpina12 (MGI:1915304) -chr14 94561441 94569905 14q31-q32.1 14q32.13 147935 SERPINA4, KST, PI4 Serpin peptidase inhibitor, clade A, member 4 SERPINA4 5267 ENSG00000100665 in cluster with related AAT, AACT, CBG, PCI -chr14 94581425 94593117 14q32.1 14q32.13 601841 SERPNA5, PCI Serpin peptidase inhibitor, clade A, member 5 (protein C inhibitor) SERPINA5 5104 ENSG00000188488 Serpina5 (MGI:107817) -chr14 94612390 94624052 14q32.1 14q32.13 107280 SERPINA3, AACT, ACT Alpha-1-antichymotrypsin SERPINA3 12 ENSG00000196136 220kb from PI Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular disease, occlusive (3) Serpina3m,Serpina3n,Serpina3k,Serpina3i,Serpina3j,Serpina3g,Serpina3f,Serpina3c,Serpina3a,Serpina3b (MGI:2182841,MGI:2182843,MGI:1921319,MGI:2182835,MGI:2182838,MGI:98378,MGI:105046,MGI:105045,MGI:102848,MGI:98377) -chr14 94768222 94770112 14q32.1 14q32.13 138890 GSC, SAMS Goosecoid GSC 145258 ENSG00000133937 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3), Autosomal recessive Gsc (MGI:95841) -chr14 95086227 95158262 14q31 14q32.13 606241 DICER1, HERNA, KIAA0928, MNG1, RMSE2, GLOW dicer 1, ribonuclease III DICER1 23405 ENSG00000100697 Pleuropulmonary blastoma, 601200 (3), Autosomal dominant; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3), Autosomal dominant; GLOW syndrome, somatic mosaic, 618272 (3); Rhabdomyosarcoma, embryonal, 2, 180295 (3) Dicer1 (MGI:2177178) -chr14 95181939 95319907 14q32.13 14q32.13 611121 CLMN, KIAA1188 Calmin CLMN 79789 ENSG00000165959 Clmn (MGI:2136957) -chr14 95407265 95516649 14q32.13 14q32.13 610861 SYNE3, C14orf49 Spectrin repeat-containing nuclear envelope protein 3 (nesprin 3) SYNE3 161176 ENSG00000176438 Syne3 (MGI:2442408) -chr14 95535049 95544713 14q32 14q32.13 609588 GLRX5, C14orf87, PRO1238, FLB4739, PRSA, SIDBA3, SPAHGC Glutaredoxin 5 GLRX5 51218 ENSG00000182512 Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3), Autosomal recessive; Spasticity, childhood-onset, with hyperglycinemia, 616859 (3), Autosomal recessive Glrx5 (MGI:1920296) -chr14 95652096 95673451 14q32.1 14q32.13 604412 TCL6, TNG1, TNG2 T-cell leukemia/lymphoma 6 TCL6 27004 -chr14 95686425 95692627 14q32.1 14q32.13 603769 TCL1B, TML1 T-cell lymphoma/leukemia 1B TCL1B 9623 ENSG00000213231 Leukemia/lymphoma, T-cell, 603769 (2) Tcl1b2,Tcl1b3,Tcl1b4,Tcl1b5,Tcl1b1 (MGI:1351601,MGI:1351635,MGI:1351600,MGI:1351604,MGI:1351609) -chr14 95694159 95714154 14q32.1 14q32.13 186960 TCL1A, TCL1 T-cell lymphoma/leukemia 1A TCL1A 8115 ENSG00000100721 Leukemia/lymphoma, T-cell, 186960 (2) Tcl1 (MGI:1097166) -chr14 95876391 95925570 14q32 14q32.2 615719 TUNAR, TUNA, LINC00617 TCL1 upstream neural differentiation-associated RNA TUNAR 100507043 ENSG00000250366 Tunar (MGI:1917202) -chr14 96204838 96244163 14q32.1-q32.2 14q32.2 113503 BDKRB2 Bradykinin receptor B2 BDKRB2 624 ENSG00000168398 Bdkrb2 (MGI:102845) -chr14 96256209 96264762 14q32.1-q32.2 14q32.2 600337 BDKRB1 Bradykinin receptor B1 BDKRB1 623 ENSG00000100739 Bdkrb1 (MGI:88144) -chr14 96279194 96363340 14q32.2 14q32.2 616226 ATG2B Autophagy related 2B ATG2B 55102 ENSG00000066739 Atg2b (MGI:1923809) -chr14 96363525 96387289 14q32.2 14q32.2 616605 GSKIP, C14orf129 GSK3B-interacting protein GSKIP 51527 ENSG00000100744 Gskip (MGI:1914037) -chr14 96392110 96489426 14q32.2 14q32.2 615364 AK7, SPGF27 Adenylate kinase 7 AK7 122481 ENSG00000140057 mutation identified in 1 SPGF27 family ?Spermatogenic failure 27, 617965 (3), Autosomal recessive Ak7 (MGI:1926051) -chr14 96502375 96567115 14q32.1-q32.2 14q32.2 605553 PAPOLA, PAP Poly(A) polymerase PAPOLA 10914 ENSG00000090060 Papola (MGI:109301) -chr14 96797381 96881613 14q32 14q32.2 602168 VRK1, PCH1A Vaccinia-related kinase-1 VRK1 7443 ENSG00000100749 Pontocerebellar hypoplasia type 1A, 607596 (3), Autosomal recessive Vrk1 (MGI:1261847) -chr14 99169286 99272196 14q32.1 14q32.2 606558 BCL11B, CTIP2, IMD49, IDDFSTA BAF chromatin remodeling complex subunit BCL11B BCL11B 64919 ENSG00000127152 Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3), Autosomal dominant; Immunodeficiency 49, 617237 (3), Autosomal dominant Bcl11b (MGI:1929913) -chr14 99397745 99486457 14q32.2 14q32.2 615671 SETD3 SET domain-containing protein 3 SETD3 84193 ENSG00000183576 Setd3 (MGI:1289184) -chr14 99481408 99512439 14q32 14q32.2 603544 CCNK, IDDHDF Cyclin K CCNK 8812 ENSG00000090061 mutation identified in 1 IDDHDF patient ?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3), Autosomal dominant Ccnk (MGI:1276106) -chr14 99684261 99727320 14q32.1 14q32.2 604087 CYP46A1, CYP46 Cytochrome P450, family 46, subfamily A, polypeptide 1 (cholesterol 24-hydroxylase) CYP46A1 10858 ENSG00000036530 Cyp46a1 (MGI:1341877) -chr14 99737721 99942059 14q32 14q32.2 602033 EML1, EMAPL, EMAP, BH Echinoderm microtubule associated protein like 1 EML1 2009 ENSG00000066629 Band heterotopia, 600348 (3), Autosomal recessive Eml1 (MGI:1915769) -chr14 99971421 100144235 14q32.2 14q32.2 616912 EVL ENAH/VASP-like protein EVL 51466 ENSG00000196405 Evl (MGI:1194884) -chr14 100143956 100166885 14q32.2 14q32.2 610862 DEGS2, DES2 Delta(4)-desaturase, sphingolipid, 2 DEGS2 123099 ENSG00000168350 Degs2 (MGI:1917309) -chr14 100239143 100282787 14q 14q32.2 600013 YY1, GADEVS YY1 transcription factor YY1 7528 ENSG00000100811 Gabriele-de Vries syndrome, 617557 (3), Autosomal dominant Yy1 (MGI:99150) -chr14 100277985 100306535 14q32 14q32.2 615064 SLC25A29, CACL, ORNT3 Solute carrier family 25 (carnitine/acylcarnitine translocase), member 29 SLC25A29 123096 ENSG00000197119 Slc25a29 (MGI:2444911) -chr14 100323338 100330420 14q32.31 14q32.2 609911 HDMCP, C14orf68 Hepatocellular carcinoma-downregulated mitochondrial carrier protein SLC25A47 283600 ENSG00000140107 Slc25a47 (MGI:2144766) -chr14 100333788 100376326 14q32.31 14q32.2 191050 WARS1, WARS, HMN9 Tryptophanyl-tRNA synthetase 1 WARS1 7453 ENSG00000140105 Neuronopathy, distal hereditary motor, type IX, 617721 (3), Autosomal dominant Wars (MGI:104630) -chr14 100376484 100530302 14q32 14q32.2 618059 WDR25 WD repeat-containing protein 25 WDR25 79446 ENSG00000176473 Wdr25 (MGI:3045255) -chr14 100537146 100587416 14q32.2 14q32.2 618597 BEGAIN Brain-enriched guanylate kinase-associated protein BEGAIN 57596 ENSG00000183092 Begain (MGI:3044626) -chr14 100726891 100738223 14q32 14q32.2 176290 DLK1, PREF1, FA1 Delta-like noncanonical NOTCH ligand 1 DLK1 8788 ENSG00000185559 Dlk1 (MGI:94900) -chr14 100826107 100861025 14q32.3 14q32.2 605636 MEG3, GTL2 Maternally expressed gene 3 MEG3 55384 ENSG00000214548 100kb from DLK1 Meg3 (MGI:1202886) -chr14 100879752 100903721 14q32.2 14q-q 611896 RTL1, PEG11 Retrotransposon-like gene 1 RTL1 388015 ENSG00000254656 Rtl1 (MGI:2656842) -chr14 100881006 100881119 14q32.31 14q32.2 611708 MIR431, MIRN431 Micro RNA 431 MIR431 574038 ENSG00000208001 Mir431 (MGI:3619403) -chr14 100881885 100881977 14q32.31 14q32.2 611711 MIR433, MIRN433 Micro RNA 433 MIR433 574034 ENSG00000207569 Mir433 (MGI:3619404) -chr14 100882978 100883074 14q32.31 14q32.2 611709 MIR127, MIRN127 Micro RNA 127 MIR127 406914 ENSG00000207608 Mir127 (MGI:2676812) -chr14 100884701 100884782 14q32.31 14q32.2 611710 MIR136, MIRN136 Micro RNA 136 MIR136 406927 ENSG00000207942 Mir136 (MGI:2676821) -chr14 100889648 100999112 14q32 14q-q 613648 MEG8 Maternally expressed gene 8 MEG8 79104 Rian (MGI:1922995) -chr14 100897919 100897995 14q32 14q32.2 613649 SNORD112 Small nucleolar, C/D box, 112 SNORD112 692215 ENSG00000275662 located in an intron of MEG8 -chr14 100911138 100911212 14q32.31 14q32.31 612553 MIR370, MIRN370 Micro RNA 370 MIR370 442915 ENSG00000199005 Mir370 (MGI:3619375) -chr14 100924820 100924889 14q32 14q32.31 613650 SNORD113-1 Small nucleolar RNA, C/D box, 113-1 SNORD113-1 767561 ENSG00000202191 -chr14 100949832 100949902 14q32 14q32.31 613651 SNORD114-1 Small nucleolar RNA, C/D box, 114-1 SNORD114-1 767577 ENSG00000199575 -chr14 101022065 101022131 14q32.31 14q32.31 616358 MIR379 Micro RNA 379 MIR379 494328 ENSG00000199088 Mir379 (MGI:3619386) -chr14 101025016 101025076 14q32 14q32.31 613654 MIR380, MIRN380 Micro RNA 380 MIR380 494329 ENSG00000198982 Mir380 (MGI:3619389) -chr14 101029633 101029713 14q32.31 14q32.31 616036 MIR494 Micro RNA 494 MIR494 574452 ENSG00000194717 Mir494 (MGI:3619426) -chr14 101033754 101033835 14q32.31 14q32.31 615149 MIR495 Micro RNA 495 MIR495 574453 ENSG00000207743 Mir495 (MGI:3629903) -chr14 101039689 101039754 14q32.31 14q32.31 610983 MIR376C, MIR368 Micro RNA 368C MIR376C 442913 ENSG00000283279 Mir376c (MGI:3619381) -chr14 101040068 101040147 14q32.31 14q32.31 610960 MIR376A-2, MIRN376A-2 Micro RNA 376A-2 MIR376A2 664615 ENSG00000283561 -chr14 101040435 101040534 14q32.31 14q32.31 610961 MIR376B, MIRN376B Micro RNA 376b MIR376B 574435 ENSG00000283556 Mir376b (MGI:3619378) -chr14 101040781 101040848 14q32.31 14q32.31 610959 MIR376A-1, MIRN376A-1 Micro RNA 376A-1 MIR376A1 494325 ENSG00000283588 Mir376a (MGI:3619377) -chr14 101046454 101046537 14q32.31 14q32.31 615037 MIR487B Micro RNA 487B MIR487B 664616 ENSG00000207754 Mir487b (MGI:3619424) -chr14 101054686 101054758 14q32.31 14q32.31 610164 MIR134 Micro RNA 134 MIR134 406924 ENSG00000207993 Mir134 (MGI:2676819) -chr14 101055418 101055490 14q32.31 14q32.31 615385 MIR485 Micro RNA 485 MIR485 574436 ENSG00000208027 Mir485 (MGI:3619422) -chr14 101065299 101065377 14q32.31 14q32.31 614057 MIR409, MIRN409 Micro RNA 409 MIR409 574413 ENSG00000199107 Mir409 (MGI:3619396) -chr14 101065597 101065666 14q32.31 14q32.31 611794 MIR369, MIR369-3, MIRN369-3 Micro RNA 369 MIR369 442914 ENSG00000199025 Mir369 (MGI:3619374) -chr14 101065911 101065990 14q32.31 14q32.31 615036 MIR410 Micro RNA 410 MIR410 574434 ENSG00000199092 Mir410 (MGI:3619398) -chr14 101066723 101066800 14q32.31 14q32.31 616376 MIR656 Micro RNA 656 MIR656 724026 ENSG00000207959 -chr14 101552220 101560421 14q32 14q32.31 608523 DIO3OS Deiodinase, iodothyronine, type 3, opposite strand DIO3OS 64150 ENSG00000258498 Dio3os (MGI:2664395) -chr14 101561350 101563451 14q32 14q32.31 601038 DIO3, TXDI3 Deiodinase, iodothyronine, type 3 DIO3 1735 ENSG00000197406 Dio3 (MGI:1306782) -chr14 101760572 101927991 14q32.31 14q32.31 601645 PPP2R5C Protein phosphatase-2, regulatory subunit B (B56), gamma isoform PPP2R5C 5527 ENSG00000078304 pseudogene on 3p21 Ppp2r5c (MGI:1349475) -chr14 101964572 102056442 14q32 14q32.31 600112 DYNC1H1, DNCL, DNECL, CMT20, MRD13, SMALED1 Dynein, cytoplasmic-1, heavy chain-1 DYNC1H1 1778 ENSG00000197102 Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3), Autosomal dominant; Mental retardation, autosomal dominant 13, 614563 (3), Autosomal dominant Dync1h1 (MGI:103147) -chr14 102080741 102139748 14q32.2 14q32.31 140571 HSP90AA1, HSPCA, HSPC1, HSP90A, HSP89A, HSPCAL4, LAP2 Heat-shock protein, 90kD, alpha, class A, member 1 HSP90AA1 3320 ENSG00000080824 Hsp90aa1 (MGI:96250) -chr14 102139422 102224685 14q32.31 14q32.31 617741 WDR20 WD repeat-containing protein 20 WDR20 91833 ENSG00000140153 Wdr20rt,Wdr20 (MGI:1918198,MGI:1916891) -chr14 102224440 102305190 14q32 14q32.31 605762 MOK, RAGE MOK protein kinase MOK 5891 ENSG00000080823 Mok (MGI:1336881) -chr14 102348281 102362889 14q32.31 14q32.31 613362 CINP CDK2-interacting protein CINP 51550 ENSG00000100865 Cinp (MGI:1914486) -chr14 102362940 102502476 14q32.31 14q32.31 615000 TECPR2, KIAA0329, SPG49 Tectonin beta-propeller repeat-containing protein 2 TECPR2 9895 ENSG00000196663 Spastic paraplegia 49, autosomal recessive, 615031 (3), Autosomal recessive Tecpr2 (MGI:2144865) -chr14 102501766 102509775 14q32.31 14q32.31 618605 ANKRD9 Ankyrin repeat domain-containing protein 9 ANKRD9 122416 ENSG00000156381 Ankrd9 (MGI:1921501) -chr14 102592592 102730571 Chr.14 14q32.31-q32.32 607675 RCOR, COREST, KIAA0071 REST corepressor RCOR1 23186 ENSG00000089902 Rcor1 (MGI:106340) -chr14 102777448 102911499 14q32.32 14q32.32 601896 TRAF3, CD40BP, LAP1, CAP1, CRAF1, IIAE5 TNF receptor-associated factor 3 TRAF3 7187 ENSG00000131323 mutation identified in 1 IIAE5 patient {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3) Traf3 (MGI:108041) -chr14 102922429 102933596 14q32 14q32.32 605799 AMN, IGS2 Amnion associated transmembrane protein AMN 81693 ENSG00000166126 Imerslund-Grasbeck syndrome 2, 618882 (3), Autosomal recessive Amn (MGI:1934943) -chr14 102932379 103057548 14q32.3 14q32.32 614062 CDC42BPB, MRCKB CDC42-binding protein kinase, beta CDC42BPB 9578 ENSG00000198752 Cdc42bpb (MGI:2136459) -chr14 103121174 103137438 14q32 14q32.32 603300 TNFAIP2 Tumor necrosis factor, alpha-induced protein-2 TNFAIP2 7127 ENSG00000185215 Tnfaip2 (MGI:104960) -chr14 103334236 103345024 14q32.3 14q32.32 601710 EIF5 Eukaryotic translation initiation factor 5 EIF5 1983 ENSG00000100664 Eif5 (MGI:95309) -chr14 103385393 103503830 14q32.3 14q32.32-q32.33 602678 MARK3, VIPB MAP/microtubule affinity-regulating kinase-3 MARK3 4140 ENSG00000075413 mutation identified in 1 VIPB family ?Visual impairment and progressive phthisis bulbi, 618283 (3), Autosomal recessive Mark3 (MGI:1341865) -chr14 103500000 107043718 14q32 608318 CHDS4 Coronary heart disease, susceptibility to, 4 387585 highest LOD with D14S1426 {Coronary heart disease, susceptibility to, 4}, 608318 (2) -chr14 103500000 107043718 14q32 123270 CKBE Creatine kinase, ectopic expression 1156 linked to IGH, PI; ?same locus as CKBB [Creatine kinase, brain type, ectopic expression of], 123270 (2) -chr14 103500000 107043718 14q32 616604 DUP14q32, C14DUPq32 Chromosome 14q32 duplication syndrome, 700kB heterozygous germline duplication of 700kb {Myeloproliferative neoplasms, familial, susceptibility to}, 616604 (4), Autosomal dominant -chr14 103500000 107043718 14q32 608875 GEVQ1 Gene expression, variation in, quantitative trait locus on chromosome 14 474334 {Gene expression, variation in, QTL}, 608875 (2) -chr14 103500000 107043718 14q32 164210 HFM Hemifacial microsomia 170474 Hemifacial microsomia, 164210 (2), Autosomal dominant -chr14 103500000 107043718 14q32.33 144120 IGHR Immunoglobulin heavy chain regulator ?Hyperimmunoglobulin G1 syndrome, 144120 (2), Autosomal dominant -chr14 103500000 107043718 14q32 608149 KAOGS Kagami-Ogata syndrome uniparental isodisomy of imprinted region of chromosome 14 Kagami-Ogata syndrome, 608149 (4), Autosomal dominant -chr14 103500000 107043718 14q32 251600 MCOP1 Microphthalmia, isolated 1 8113 Microphthalmia, isolated 1, 251600 (2), Autosomal recessive -chr14 103500000 107043718 14q32 616222 TEMPS Temple syndrome (maternal uniparental disomy chromosome 14) Temple syndrome, 616222 (4), Autosomal dominant -chr14 103519666 103522832 14q32 14q32.33 123280 CKB, CKBB, BCK Creatine kinase, brain type CKB 1152 ENSG00000166165 distal to PI and AACT; closely linked to AKT1 and IGH; proximal to IGH Ckb (MGI:88407) -chr14 103556550 103562656 14q32.33 14q32.33 603885 BAG5 BAG cochaperone 5 BAG5 9529 ENSG00000166170 Bag5 (MGI:1917619) -chr14 103562959 103590898 14q32.33 14q32.33 616003 APOPT1, APOP, MC4DN17 Apoptogenic protein 1, mitochondrial COA8 84334 ENSG00000256053 Mitochondrial complex IV deficiency, nuclear type 17, 619061 (3), Autosomal recessive Coa8 (MGI:1915270) -chr14 103629210 103701543 14q32.3 14q32.33 600025 KLC1, KNS2, KNS2A Kinesin, light chain 1 KLC1 3831 ENSG00000126214 Klc1 (MGI:107978) -chr14 103697610 103715485 14q32.3 14q32.33 600675 XRCC3, CMM6 X-ray repair corss complementing 3 XRCC3 7517 ENSG00000126215 {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; {Melanoma, cutaneous malignant, 6}, 613972 (3) Xrcc3 (MGI:1921585) -chr14 103715809 103733663 14q32.33 14q32.33 613504 ZFYVE21, ZF21 Zinc finger FYVE domain-containing protein 21 ZFYVE21 79038 ENSG00000100711 Zfyve21 (MGI:1915770) -chr14 103733194 103849326 14q32.33 14q32.33 606455 PPP1R13B, ASPP1, KIAA0771 Protein phosphatase 1, regulatory subunit 13B PPP1R13B 23368 ENSG00000088808 Ppp1r13b (MGI:1336199) -chr14 103912287 103921528 14q32.33 14q32.33 604573 ATP5MPL, C14orf2, MP68 ATP synthase membrane subunit 6.8PL ATP5MJ 9556 ENSG00000156411 Atp5mpl (MGI:1917507) -chr14 103928342 104052666 14q32.33 14q32.33 617963 TDRD9, C14orf75, HLS, SPNE, SPGF30 TUDOR domain-containing protein 9 TDRD9 122402 ENSG00000156414 mutation identified in one SPGF30 family ?Spermatogenic failure 30, 618110 (3), Autosomal recessive Tdrd9 (MGI:1921941) -chr14 104085657 104115581 14q32.33 14q32.33 618472 ASPG, LYSOLP Asparaginase ASPG 374569 ENSG00000166183 Aspg (MGI:2144822) -chr14 104117404 104117513 14q32.33 14q32.33 611899 MIR203, MIRN203 Micro RNA 203 MIR203A 406986 ENSG00000207568 Mir203 (MGI:2676878) -chr14 104138586 104180897 14q32.33 14q32.33 613231 KIF26A, KIAA1236 Kinesin family member 26A KIF26A 26153 ENSG00000066735 Kif26a (MGI:2447072) -chr14 104579763 104590514 14q32.33 14q32.33 619392 C14orf180, NRAC Chromosome 14 open reading frame 180 C14orf180 400258 ENSG00000184601 A530016L24Rik (MGI:2443020) -chr14 104689617 104722534 14q32.33 14q32.33 610982 INF2, FSGS5, C14orf173, CMTDIE Inverted formin 2 INF2 64423 ENSG00000203485 Glomerulosclerosis, focal segmental, 5, 613237 (3); Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3), Autosomal dominant Inf2 (MGI:1917685) -chr14 104724200 104747324 14q32.33 14q32.33 612498 ADSS1, ADSSL1, MPD5 Adenylosuccinate synthase 1 ADSS1 122622 ENSG00000185100 Myopathy, distal, 5, 617030 (3), Autosomal recessive Adssl1 (MGI:87947) -chr14 104752419 104759658 14q32.33 14q32.33 605567 SIVA1, CD27BP SIVA apoptosis-inducing factor 1 SIVA1 10572 ENSG00000184990 Siva1 (MGI:1353606) -chr14 104769348 104795747 14q32.3 14q32.33 164730 AKT1, CWS6 AKT serine/threonine kinase 1 AKT1 207 ENSG00000142208 proximal to IGH Breast cancer, somatic, 114480 (3); Cowden syndrome 6, 615109 (3); Colorectal cancer, somatic, 114500 (3); Proteus syndrome, somatic, 176920 (3); Ovarian cancer, somatic, 167000 (3) Akt1 (MGI:87986) -chr14 104800553 104804711 14q32.33 14q32.33 613915 ZBTB42, ZNF925, LCCS6 Zinc finger- and BTB domain-containing protein 42 ZBTB42 100128927 ENSG00000179627 mutation identified in 1 LCCS6 family ?Lethal congenital contracture syndrome 6, 616248 (3), Autosomal recessive Zbtb42 (MGI:3644133) -chr14 104924300 104937788 14q32.33 14q32.33 618488 PLD4 Phospholipase D family, member 4 PLD4 122618 ENSG00000166428 Pld4 (MGI:2144765) -chr14 105009572 105021082 14q32.33 14q32.33 612270 CDCA4, HEPP Cell division cycle-associated protein 4 CDCA4 55038 ENSG00000170779 Cdca4 (MGI:1919213) -chr14 105049394 105065429 14q32.3 14q32.33 606167 GPR132, G2A G protein-coupled receptor-132 GPR132 29933 ENSG00000183484 Gpr132 (MGI:1890220) -chr14 105140980 105168775 14q32 14q32.33 602570 JAG2 Jagged 2 JAG2 3714 ENSG00000184916 Jag2 (MGI:1098270) -chr14 105172938 105181311 14q32.33 14q32.33 609219 NUDT14, UGPP Nudix hydrolase 14 NUDT14 256281 ENSG00000183828 Nudt14 (MGI:1913424) -chr14 105209285 105315588 14q32.33 14q32.33 604902 BRF1, TAF3C, GTF3B, TF3B90, CFDS BRF1, S. cerevisiae, homolog of (TATA box-binding protein-associated factor 3C) BRF1 2972 ENSG00000185024 Cerebellofaciodental syndrome, 616202 (3), Autosomal recessive Brf1 (MGI:1919558) -chr14 105300717 105398146 14q32.33 14q32.33 610423 PACS2, KIAA0602, DEE66 Phosphofurin acidic cluster sorting protein 2 PACS2 23241 ENSG00000179364 Developmental and epileptic encephalopathy 66, 618067 (3), Autosomal dominant Pacs2 (MGI:1924399) -chr14 105419826 105470728 14q32.3 14q32.33 603526 MTA1 Metastasis-associated gene 1 MTA1 9112 ENSG00000182979 Mta1 (MGI:2150037) -chr14 105472944 105480169 14q32.3 14q32.33 601183 CRIP2, CRP2 Cysteine-rich intestinal protein 2 CRIP2 1397 ENSG00000182809 Crip2 (MGI:1915587) -chr14 105486885 105488946 14q32.33 14q32.33 123875 CRIP1, CRIP Cysteine-rich intestinal protein 1 CRIP1 1396 ENSG00000213145 previously assigned to 7q11.23 Crip1 (MGI:88501) -chr14 105586436 106879843 14q32.33 14q32.33 146910 IGHD@ Immunoglobulin heavy chain diversity gene cluster IGH 3492 many genes -chr14 105586436 106879843 14q32.33 14q32.33 147010 IGHJ@ Immunoglobulin heavy chain joining gene cluster IGH 3492 more than 4 genes -chr14 105586436 106879843 14q32.33 14q32.33 147070 IGHV@ Immunoglobin heavy polypeptide, variable gene cluster IGH 3492 ~250 genes; orientation: cen-PI-D14S1-IGH-IGHV--qter; 3' centromeric, 5' telomeric; IgM telomeric to IgG -chr14 105586936 105588393 14q32.33 14q32.33 147000 IGHA2, A2M Constant region of heavy chain of IgA2 IGHA2 3494 ENSG00000211890 -chr14 105600065 105601726 14q32.33 14q32.33 147180 IGHE Constant region of heavy chain of IgE IGHE 3497 ENSG00000211891 pseudogene IGHEP1 nearby; IGHEP2 on chr.9 Ighe (MGI:2685746) -chr14 105624475 105626064 14q32.33 14q32.33 147130 IGHG4 Constant region of heavy chain of IgG4 IGHG4 3503 ENSG00000211892 Ighg1,Ighg2a,Ighg2b (MGI:96445,MGI:96446,MGI:96443) -chr14 105643202 105644788 14q32.33 14q32.33 147110 IGHG2 Constant region of heavy chain of IgG2 IGHG2 3501 ENSG00000211893 5'-G2-17kb-G4-3'; closeness of IGG3 and IGG1 known from Lepore-like myeloma protein IgG2 deficiency, selective (3) Ighg1,Ighg2a,Ighg2b (MGI:96445,MGI:96446,MGI:96443) -chr14 105707167 105708663 14q32.33 14q32.33 146900 IGHA1 Constant region of heavy chain of IgA1 IGHA1 3493 ENSG00000211895 Fused with IRTA1 in multiple myeloma -chr14 105741472 105743069 14q32.33 14q32.33 147100 IGHG1 Constant region of heavy chain of IgG1 IGHG1 3500 ENSG00000211896 Ighg1,Ighg2a,Ighg2b,Ighg3 (MGI:96445,MGI:96446,MGI:96443,MGI:2144790) -chr14 105765913 105771404 14q32.33 14q32.33 147120 IGHG3 Constant region of heavy chain of IgG3 IGHG3 3502 ENSG00000211897 Ighg1,Ighg2a,Ighg2b (MGI:96445,MGI:96446,MGI:96443) -chr14 105838400 105845676 14q32.33 14q32.33 147170 IGHD Constant region of heavy chain of IgD IGHD 3495 ENSG00000211898 Ighd (MGI:96447) -chr14 105851965 105856216 14q32.33 14q32.33 147020 IGHM, MU, AGM1 Constant region of heavy chain of IgM IGHM 3507 ENSG00000211899 Agammaglobulinemia 1, 601495 (3), Autosomal recessive Ighm (MGI:96448) -chr14 105914358 105914388 14q32.33 14q32.33 611937 IGHD3-3, DXP4 Immunoglobulin heavy chain diversity gene 3-3 IGHD3-3 28501 ENSG00000211930 -chr14 105917978 105932641 14q32.33 14q32.33 616623 KIAA0125, FAM30A, C14orf110 KIAA0125 gene, noncoding FAM30A 9834 ENSG00000226777 -chr14 106268605 106269060 14q32.33 14q32.33 611939 IGHV3-23, IGHV323, DP47, VH26 Immunoglobulin heavy chain variable gene 3-23 IGHV3-23 28442 ENSG00000211949 Ighv5-12 (MGI:4439516) -chr14 0 107043718 Chr.14 151020 LCH Lentil agglutinin-binding -chr14 0 107043718 Chr.14 608251 PHOBS Phobia, specific 404684 Phobia, specific, 608251 (2) -chr14 0 107043718 Chr.14 616606 RC14S Ring chromosome 14 syndrome Ring chromosome 14 syndrome, 616606 (4), Isolated cases -chr15 4200000 9700000 15p12 180452 RNR3 Ribosomal RNA-3 RNR3 6054 -chr15 19000000 101991189 15q 604329 HYT2 Hypertension, essential, susceptibility to, 2 50986 {Hypertension, essential, susceptibility to, 2}, 145500 (2), Multifactorial -chr15 19000000 101991189 15q 214900 LCS1, CHLS Cholestasis-lymphedema syndrome 84565 Cholestasis-lymphedema syndrome, 214900 (2), Autosomal recessive -chr15 20500000 25500000 15q11 608636 AUTS4 Autism, susceptibility to, 4 {Autism susceptibility 4}, 608636 (2), Autosomal dominant -chr15 20500000 33400000 15q11-q13 607202 CELIAC5, GSES Celiac disease, susceptibility to, 5 338332 in homogeneous Finnish population {Celiac disease, susceptibility to, 5}, 607202 (2) -chr15 20500000 25500000 15q11.2 615656 DEL15q11.2, C15DELq11.2 Chromosome 15q11.2 deletion syndrome deleted region spans 300-500kb between BP1 and BP2 Chromosome 15q11.2 deletion syndrome, 615656 (4), Autosomal dominant -chr15 20500000 33400000 15q11-q13 609745 GLC1I Glaucoma 1, open angle, I 497188 max lod at GABRB3 Glaucoma 1, open angle, I, 609745 (2) -chr15 20500000 101991189 15q11-qter 122460 HCVS Human coronavirus sensitivity 3063 {Human coronavirus sensitivity}, 122460 (2), Autosomal dominant -chr15 20500000 27800000 15q11-q12 146990 IGHDY2 Immunoglobulin heavy chain diversity region-2 3496 ?functional -chr15 20500000 27800000 15q11.2-q12 609179 MGR7 Migraine with aura, susceptibility to, 7 553992 between D15S113 and D15S1019 {Migraine with aura, susceptibility to, 7}, 609179 (2) -chr15 20500000 33400000 15q11-q13 603857 MRKN3-AS1, ZNF127AS MKRN3 antisense RNA 1 10108 -chr15 20669467 20756150 15q11.2 15q11.2 601889 NBEAP1, BCL8 Neurobeachin pseudogene 1 NBEAP1 606 -chr15 21846328 21877734 15q11.2 15q11.2 608912 POTEB, POTE15 POTE ankyrin domain family, member B POTEB 100996331 ENSG00000233917 Potegl,4930467E23Rik,Poteb,Potea,Poteg (MGI:3796981,MGI:1923056,MGI:1918231,MGI:1914825,MGI:1918202) -chr15 22786224 22829788 15q11.1 15q11.2 608145 NIPA1, SPG6 NIPA magnesium transporter 1 NIPA1 123606 ENSG00000170113 Spastic paraplegia 6, autosomal dominant, 600363 (3), Autosomal dominant Nipa1 (MGI:2442058) -chr15 22838640 22868383 15q11.2 15q11.2 608146 NIPA2 NIPA magnesium transporter 2 NIPA2 81614 ENSG00000140157 Nipa2 (MGI:1913918) -chr15 22867051 22980897 15q11 15q11.2 606322 CYFIP1, KIAA0068 Cytoplasmic FMRP interacting protein 1 CYFIP1 23191 ENSG00000273749 Cyfip1 (MGI:1338801) -chr15 22983024 23039579 15q11.2 15q11.2 608147 TUBGCP5, GCP5, KIAA1899 Tubulin-gamma complex-associated protein 5 TUBGCP5 114791 ENSG00000275835 Tubgcp5 (MGI:2178836) -chr15 23565673 23568043 15q11-q13 15q11.2 603856 MKRN3, ZFP127, ZNF127, CPPB2 Makorin 3 MKRN3 7681 ENSG00000179455 expressed only from paternal allele Precocious puberty, central, 2, 615346 (3), Autosomal dominant Mkrn3 (MGI:2181178) -chr15 23643548 23647866 15q11.2 15q11.2 605283 MAGEL2, NDNL1, SHFYNG MAGE-like 2 MAGEL2 54551 ENSG00000254585 Schaaf-Yang syndrome, 615547 (3), Autosomal dominant Magel2 (MGI:1351648) -chr15 23685399 23687304 15q11-q13 15q11.2 602117 NDN Necdin NDN 4692 ENSG00000182636 Prader-Willi syndrome, 176270 (3), Autosomal dominant Ndn (MGI:97290) -chr15 24164776 24169947 15q11.2 15q11.2 611217 PWRN2 Prader-Willi region noncoding RNA 2 PWRN2 791115 ENSG00000260551 -chr15 24558156 24587779 15q11.2 15q11.2 611215 PWRN1 Prader-Willi region noncoding RNA 1 PWRN1 791114 ENSG00000259905 -chr15 24675774 24683392 15q11.2 15q11.2 610922 NPAP1, C15orf2 Nuclear pore associated protein 1 NPAP1 23742 ENSG00000185823 -chr15 24823607 25419461 15q11.2 15q11.2 616259 SNHG14, LNCAT, UBE3AATS Small nucleolar RNA host gene 14 SNHG14 104472715 -chr15 24823636 24978722 15q12 15q11.2 182279 SNRPN Small nuclear ribonucleoprotein polypeptide N SNRPN 6638 ENSG00000128739 Prader-Willi syndrome, 176270 (3), Autosomal dominant Snrpn (MGI:98347) -chr15 24984859 24988231 15q11-q13 15q11.2 600162 D15S226E, PAR5 Prader-Willi/Angelman syndrome-5 PWAR5 8123 ENSG00000279192 paternally imprinted -chr15 25051475 25051571 15q11.2 15q11.2 605436 SNORD116-1, PWCR1 Small nucleolar RNA, C/D box, 116-1 SNORD116-1 100033413 ENSG00000207063 -chr15 25116544 25122475 15q11-q13 15q11.2 601491 IPW Imprinted in Prader-Willi syndrome IPW 3653 -chr15 25135641 25138052 15q11-q13 15q11.2 600161 D15S227E, PAR1 Prader-Willi/Angelman region-1 PWAR1 145624 ENSG00000279050 paternally imprinted -chr15 25170722 25170803 15q11.2 15q11.2 609837 SNORD115-1, RNHBII52 Small nucleolar RNA, C/D box, 115-1 SNORD115-1 338433 ENSG00000201831 -chr15 25333727 25439380 15q11-q13 15q11.2 601623 UBE3A, ANCR Ubiquitin protein ligase E3A UBE3A 7337 ENSG00000114062 same location as PWS Angelman syndrome, 105830 (3), Autosomal dominant Ube3a (MGI:105098) -chr15 25500000 27800000 15q12 610321 HPC7 Prostate cancer, hereditary, 7 100188809 {Prostate cancer, hereditary, 7}, 610321 (2) -chr15 25500000 44500000 15q12-q15 605738 MCOPCB2 Microphthalmia, isolated, with coloboma 2 80771 Microphthalmia with coloboma 2, 605738 (2) -chr15 25672240 25865143 15q11-q13 15q12 605855 ATP10A, ATP10C, ATPVC ATPase, class V, type 10A ATP10A 57194 ENSG00000206190 Atp10a (MGI:1330809) -chr15 26543551 26773762 15q11.2-q12 15q12 137192 GABRB3, ECA5, DEE43 Gamma-aminobutyric acid (GABA) A receptor, beta-3 GABRB3 2562 ENSG00000166206 {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3); Developmental and epileptic encephalopathy 43, 617113 (3), Autosomal dominant Gabrb3 (MGI:95621) -chr15 26866718 26949207 15q11.2-q12 15q12 137142 GABRA5, DEE79 Gamma-aminobutyric acid (GABA) A receptor, alpha-5 GABRA5 2558 ENSG00000186297 100kb from GABRB3 Developmental and epileptic encephalopathy 79, 618559 (3), Autosomal dominant Gabra5 (MGI:95617) -chr15 26971180 27541983 15q11.2-q12 15q12 600233 GABRG3 Gamma-aminobutyric acid (GABA) A receptor, gamma-3 GABRG3 2567 ENSG00000182256 cen--G3--A5--B3 Gabrg3 (MGI:95624) -chr15 27719007 28099341 15q11.2-q12 15q-q 611409 OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1 Pink-eye dilution, murine, homolog of (oculocutaneous albinism II) OCA2 4948 ENSG00000104044 ?hypopigmentation in PWS and AS [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; Albinism, brown oculocutaneous, 203200 (3), Autosomal recessive; Albinism, oculocutaneous, type II, 203200 (3), Autosomal recessive Oca2 (MGI:97454) -chr15 27800000 42500000 15q13.1-q15.1 608646 CILD4 Ciliary dyskinesia, primary, 4 408257 between D15S1012 and D15S1048 Ciliary dyskinesia, primary, 4, 608646 (2), Autosomal recessive -chr15 28111039 28322178 15q13.1 15q13.1 605837 HERC2, SHEP1, MRT38 HECT domain and RCC1-like domain 2 HERC2 8924 ENSG00000128731 mutations in intron 4 Mental retardation, autosomal recessive 38, 615516 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive Herc2 (MGI:103234) -chr15 28885478 29118314 15q 15q13.1 602712 APBA2 Amyloid beta A4 precursor protein-binding, family A, member 2 APBA2 321 ENSG00000034053 Apba2 (MGI:1261791) -chr15 29264988 29269821 15q13.1 15q13.1 608243 NSMCE3, NDNL2, MAGEG1, LICS NSE3 homolog, SMC5-SMC6 complex component NSMCE3 56160 ENSG00000185115 Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3), Autosomal recessive Nsmce3 (MGI:1913897) -chr15 29699366 29969048 15q13 15q13.1 601009 TJP1 Tight junction protein 1 (zona occludens 1) TJP1 7082 ENSG00000104067 Tjp1 (MGI:98759) -chr15 30360565 30393848 15q13.2 15q13.2 609756 CHRFAM7A CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion CHRFAM7A 89832 ENSG00000166664 Chrna7 (MGI:99779) -chr15 30626127 30649228 15q13.2 15q13.2 616310 ARHGAP11B, FAM7B1 RHO GTPase-activating protein 11B ARHGAP11B 89839 ENSG00000284906 Arhgap11a (MGI:2444300) -chr15 30900000 44500000 15q13-q15 109710 B2MR Beta-2-microglobulin regulator B2MR 568 -chr15 30900000 33400000 15q13.3 612001 DEL15q13.3, MICRODEL15q13.3 Chromosome 15q13.3 microdeletion syndrome Chromosome 15q13.3 microdeletion syndrome, 612001 (4) -chr15 30900000 33400000 15q13 613025 SCZD13 Schizophrenia 13 100329170 associated with deletion at 15q13.3 {Schizophrenia, susceptibility to, 13}, 613025 (2) -chr15 30900000 33400000 15q13 208500 SRTD1, ATD1 Short-rib thoracic dysplasia 1 with or without polydactyly 465 Short-rib thoracic dysplasia 1 with or without polydactyly, 208500 (2), Autosomal recessive -chr15 30903851 30943107 15q13.2-q13.3 15q13.3 613534 FAN1, MTMR15, KIAA1018, KMIN FANCD2/FANCI-associated nuclease 1 FAN1 22909 ENSG00000198690 Interstitial nephritis, karyomegalic, 614817 (3), Autosomal recessive Fan1 (MGI:3045266) -chr15 31001064 31161159 15q13-q14 15q13.3 603576 TRPM1, MLSN1, CSNB1C Transient receptor potential cation channel, subfamily M, member 1 (melastatin) TRPM1 4308 ENSG00000134160 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3) Trpm1 (MGI:1330305) -chr15 31065031 31065140 15q13.3 15q13.3 613753 MIR211, MIRN211 Micro RNA 211 MIR211 406993 ENSG00000207702 Mir211 (MGI:2676887) -chr15 31326834 31435664 15q12 15q13.3 605328 KLF13, RFLAT1, FKLF2 Kruppel-like factor 13 KLF13 51621 ENSG00000169926 Klf13 (MGI:1354948) -chr15 31475397 31870672 15q13.3 15q13.3 612024 OTUD7A, OTUD7, C16orf15, CEZANNE2 OTU domain-containing protein 7A OTUD7A 161725 ENSG00000169918 Otud7a (MGI:2158505) -chr15 32030461 32173017 15q14 15q13.3 118511 CHRNA7 Cholinergic receptor, nicotinic, alpha polypeptide-7 CHRNA7 1139 ENSG00000175344 Chrna7 (MGI:99779) -chr15 32615143 32639940 15q13.2 15q13.3 610589 ARHGAP11A, KIAA0013 RHO GTPase-activating protein 11A ARHGAP11A 9824 ENSG00000198826 Arhgap11a (MGI:2444300) -chr15 32641709 32697091 15q11-q15 15q13.3 173120 SCG5, SGNE1 Secretogranin V (7B2 protein ) SCG5 6447 ENSG00000166922 Scg5 (MGI:98289) -chr15 32718003 32745105 15q13-q15 15q13.3 603054 GREM1, CKTSF1B1 Gremlin 1 homolog, cystine knot superfamily GREM1 26585 ENSG00000166923 Grem1 (MGI:1344337) -chr15 32765543 33194764 15q13-q14 15q13.3 136535 FMN, LD Formin (limb deformity) FMN1 342184 ENSG00000248905 Fmn1 (MGI:101815) -chr15 33310772 33866102 15q14-q15 15q13-q14 180903 RYR3 Ryanodine receptor-3 RYR3 6263 ENSG00000198838 Ryr3 (MGI:99684) -chr15 33400000 39800000 15q14 616898 DEL15q14, C15DELq14 Chromosome 15q14 deletion syndrome Chromosome 15q14 deletion syndrome, 616898 (4), Autosomal dominant -chr15 33400000 39800000 15q14 604827 EIG7, EJM2 Epilepsy, idiopathic generalized, susceptibility to, 7 50715 ?role of CHRNA7 {Epilepsy, idiopathic generalized, susceptibility to, 7}, 604827 (2), Autosomal recessive; Epilepsy, juvenile myoclonic, 604827 (2), Autosomal recessive -chr15 33968496 34067457 15q26 15q14 118496 CHRM5 Cholinergic receptor, muscarinic, 5 CHRM5 1133 ENSG00000184984 Chrm5 (MGI:109248) -chr15 33851784 34074876 Chr.15 15q14 605265 AVEN Cell death regulator AVEN AVEN 57099 ENSG00000169857 Aven (MGI:1921518) -chr15 34140673 34210095 15q14 15q14 616235 KATNBL1, C15orf29 Katanin, p80 subunit, B-like 1 KATNBL1 79768 ENSG00000134152 Katnbl1 (MGI:1919675) -chr15 34225015 34230155 15q14 15q14 616245 EMC4, TMEM85, PIG17 ER membrane protein complex subunit 4 EMC4 51234 ENSG00000128463 Emc4 (MGI:1915282) -chr15 34229783 34338056 15q13-q14 15q14 604878 SLC12A6, KCC3A, KCC3B, KCC3, ACCPN Solute carrier family 12 (potassium/chloride transporters), member 6 SLC12A6 9990 ENSG00000140199 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3), Autosomal recessive Slc12a6 (MGI:2135960) -chr15 34341718 34343135 15q14-q15 15q14 606471 NOLA3, NOP10, DKCB1 Nucleolar protein family A, member 3 NOP10 55505 ENSG00000182117 Dyskeratosis congenita, autosomal recessive 1, 224230 (3), Autosomal recessive Nop10 (MGI:1913431) -chr15 34343314 34357734 15q14 15q14 608963 NUTM1 NUT midline carcinoma family member 1 NUTM1 256646 ENSG00000184507 Nutm1 (MGI:2661384) -chr15 34358632 34367195 15q14 15q14 612039 AGPAT7, AYTL3 1-acylglycerol-3-phosphate O-acyltransferase 7 LPCAT4 254531 ENSG00000176454 Lpcat4 (MGI:2138993) -chr15 34379067 34437807 15q14 15q14 616180 GOLGA8A, KIAA0855 Golgin A8 family, member A GOLGA8A 23015 ENSG00000175265 Golga2 (MGI:2139395) -chr15 34525094 34583650 15q14 15q14 609619 GOLGA8B, KIAA0855 Golgin A8 family, member B GOLGA8B 440270 ENSG00000215252 Golga2 (MGI:2139395) -chr15 34751031 34754997 15q14 15q14 607058 GJD2, GJA9, CX36 Gap junction protein, delta-2 (connexin 36) GJD2 57369 ENSG00000159248 Gjd2 (MGI:1334209) -chr15 34790229 34795548 15q14 15q14 102540 ACTC1, CMD1R, CMH11, ASD5, LVNC4 Actin, alpha, cardiac muscle ACTC1 70 ENSG00000159251 Left ventricular noncompaction 4, 613424 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 11, 612098 (3), Autosomal dominant; Atrial septal defect 5, 612794 (3), Autosomal dominant; Cardiomyopathy, dilated, 1R, 613424 (3), Autosomal dominant Actc1 (MGI:87905) -chr15 34851781 34969741 15q14 15q14 610548 AQR, IBP160, KIAA0560 Aquarius, mouse, homolog of AQR 9716 ENSG00000021776 Aqr (MGI:1276102) -chr15 35217355 35546192 5q14 15q14 618391 DPH6 Diphthamide biosynthesis protein 6 DPH6 89978 ENSG00000134146 Dph6 (MGI:1913882) -chr15 36579610 36810247 15q14 15q14 615626 CDIN1, C15orf41 CDAN1-interacting nuclease 1 CDIN1 84529 ENSG00000186073 Dyserythropoietic anemia, congenital, type Ib, 615631 (3), Autosomal recessive Cdin1 (MGI:3026886) -chr15 36889203 37101310 15q14-q25 15q14 601740 MEIS2, MRG1, CPCMR Meis homeobox 2 MEIS2 4212 ENSG00000134138 Cleft palate, cardiac defects, and mental retardation, 600987 (3), Autosomal dominant Meis2 (MGI:108564) -chr15 38252086 38357248 15q13.2 15q14 609291 SPRED1, NFLS, LGSS Sprouty-related EVH1 domain-containing protein 1 SPRED1 161742 ENSG00000166068 Legius syndrome, 611431 (3), Autosomal dominant Spred1 (MGI:2150016) -chr15 38454126 38487709 15q14 15q14 616142 FAM98B Family with sequence similarity 98, member B FAM98B 283742 ENSG00000171262 Fam98b (MGI:1915465) -chr15 38488096 38564813 15q15 15q14 603962 RASGRP1, IMD64 Ras guanyl nucleotide releasing protein-1 RASGRP1 10125 ENSG00000172575 Immunodeficiency 64, 618534 (3), Autosomal recessive Rasgrp1 (MGI:1314635) -chr15 39581078 39599465 15q15 15q14 188060 THBS1 Thrombospondin 1 THBS1 7057 ENSG00000137801 Thbs1 (MGI:98737) -chr15 39597280 39782840 15q14 15q14 615795 FSIP1, HSD10 Fibrous sheath-interacting protein 1 FSIP1 161835 ENSG00000150667 Fsip1 (MGI:1918563) -chr15 39795048 39920938 15q14-q15 15q-q 612183 GPR176 G protein-coupled receptor 176 GPR176 11245 ENSG00000166073 Gpr176 (MGI:2685858) -chr15 39934114 40035590 15q15.1 15q15.1 609280 EIF2AK4, GCN2, KIAA1338, PVOD2 Eukaryotic translation initiation factor 2-alpha kinase 4 EIF2AK4 440275 ENSG00000128829 Pulmonary venoocclusive disease 2, 234810 (3), Autosomal recessive Eif2ak4 (MGI:1353427) -chr15 40035689 40039201 15q22 15q15.1 600708 SRP14 Signal recognition particle 14kD (homologous Alu RNA-binding protein) SRP14 6727 ENSG00000140319 Srp14 (MGI:107169) -chr15 40087889 40108878 15q14 15q15.1 606266 BMF BCL2-modifying factor BMF 90427 ENSG00000104081 Bmf (MGI:2176433) -chr15 40161068 40221122 15q15 15q15.1 602860 BUB1B, BUBR1, MVA1 BUB1 mitotic checkpoint serine/threonine kinase B BUB1B 701 ENSG00000156970 Colorectal cancer, somatic, 114500 (3); [Premature chromatid separation trait], 176430 (3), Autosomal dominant; Mosaic variegated aneuploidy syndrome 1, 257300 (3), Autosomal recessive Bub1b (MGI:1333889) -chr15 40239062 40277486 15q15.1 15q15.1 608110 PAK6 p21-activated kinase 6 PAK6 56924 ENSG00000137843 Pak6 (MGI:2679420) -chr15 40285495 40307944 15q15 15q15.1 604114 PLCB2 Phospholipase C, beta-2 PLCB2 5330 ENSG00000137841 Platelet PLC beta-2 deficiency (1) Plcb2 (MGI:107465) -chr15 40354358 40378620 15q15.1 15q15.1 607503 DISP2, DISPB, KIAA1742 Dispatched RND transporter family, member 2 DISP2 85455 ENSG00000140323 Disp2 (MGI:2388733) -chr15 40382720 40394287 15q15.1 15q15.1 614718 KNSTRN, C15orf23, SKAP, ROCHIS Kinetochore-localized astrin/SPAG5 binding protein KNSTRN 90417 ENSG00000128944 mutation identified in 1 ROCHIS family ?Roifman-Chitayat syndrome, digenic, 613328 (3), Digenic recessive Knstrn (MGI:1289298) -chr15 40405786 40435947 15q14-q15 15q15.1 607036 IVD Isovaleryl Coenzyme A dehydrogenase IVD 3712 ENSG00000128928 Isovaleric acidemia, 243500 (3), Autosomal recessive Ivd (MGI:1929242) -chr15 40439756 40468236 15q15.1 15q15.1 613880 BAHD1, KIAA0945 BROMO-adjacent homology domain-containing protein 1 BAHD1 22893 ENSG00000140320 Bahd1 (MGI:2139371) -chr15 40470983 40473157 15q14 15q15.1 608429 CHST14, D4ST1, ATCS, EDSMC1 Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 CHST14 113189 ENSG00000169105 Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3), Autosomal recessive Chst14 (MGI:1919386) -chr15 40520992 40565041 15q15.1 15q15.1 618941 CCDC32, CFNDS Coiled-coil domain-containing protein 32 CCDC32 90416 ENSG00000128891 Cardiofacioneurodevelopmental syndrome, 619123 (3), Autosomal recessive Ccdc32 (MGI:2685477) -chr15 40594011 40664341 15q15.1 15q15.1 609173 KNL1, CASC5, AF15Q14, KIAA1570, D40, MCPH4 Kinetochore scaffold 1 KNL1 57082 ENSG00000137812 Microcephaly 4, primary, autosomal recessive, 604321 (3), Autosomal recessive Knl1 (MGI:1923714) -chr15 40694773 40732339 15q15.1 15q15.1 179617 RAD51, RECA, MRMV2, FANCR RAD51 recombinase RAD51 5888 ENSG00000051180 Mirror movements 2, 614508 (3), Autosomal dominant; {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; Fanconi anemia, complementation group R, 617244 (3), Autosomal dominant Rad51 (MGI:97890) -chr15 40735886 40755253 15q15.1 15q15.1 611873 FAM82A2, FAM82C, RMD3, PTPIP51 Family with sequence similarity 82, member A2 RMDN3 55177 ENSG00000137824 Rmdn3 (MGI:1915059) -chr15 40764067 40767707 15q15.1 15q15.1 602437 GCHFR, GFRP GTP cyclohydrolase I feedback regulatory protein GCHFR 2644 ENSG00000137880 Gchfr (MGI:2443977) -chr15 40765160 40807476 15q15.1 15q15.1 616844 DNAJC17 DNAJ/HSP40 homolog, subfamily C, member 17 DNAJC17 55192 ENSG00000104129 Dnajc17 (MGI:1916658) -chr15 40815450 40828792 15q15.1 15q15.1 613256 PPP1R14D, GBPI1 Protein phosphatase 1, regulatory subunit 14D PPP1R14D 54866 ENSG00000166143 Ppp1r14d (MGI:1919362) -chr15 40844047 40858206 15q15.1 15q15.1 605123 SPINT1, HAI Serine peptidase inhibitor, Kunitz-type, 1 SPINT1 6692 ENSG00000166145 Spint1 (MGI:1338033) -chr15 40894409 40903974 15q15.1 15q15.1 608551 VPS18 VPS18 core subunit of CORVET and HOPS complexes VPS18 57617 ENSG00000104142 Vps18 (MGI:2443626) -chr15 40929339 40939072 15q21.1 15q15.1 605185 DLL4, AOS6 Delta-like canonical Notch ligand 4 DLL4 54567 ENSG00000128917 Adams-Oliver syndrome 6, 616589 (3), Autosomal dominant Dll4 (MGI:1859388) -chr15 40942136 40956517 15q15.1 15q15.1 614587 CHAC1 ChaC, E. coli, homolog of, 1 CHAC1 79094 ENSG00000128965 Chac1 (MGI:1916315) -chr15 40978879 41117777 15q15.1 15q15.1 610169 INO80, INOC1 INO80 complex, ATPase subunit INO80 54617 ENSG00000128908 Ino80 (MGI:1915392) -chr15 41231155 41281886 15q13.3 15q15.1 606988 CHP1, SPAX9 Calcineurin like EF-hand protein 1 CHP1 11261 ENSG00000187446 mutation identified in 1 SPAX9 family ?Spastic ataxia 9, autosomal recessive, 618438 (3), Autosomal recessive Chp1 (MGI:1927185) -chr15 41309272 41332590 15q15.1 15q15.1 606020 OIP5, MIS18B OPA-interacting protein 5 OIP5 11339 ENSG00000104147 Oip5 (MGI:1917895) -chr15 41332840 41381049 15q15.1 15q15.1 612818 NUSAP1, ANKT, NUSAP Nucleolar and spindle-associated protein 1 NUSAP1 51203 ENSG00000137804 Nusap1 (MGI:2675669) -chr15 41387352 41402500 15q13.3 15q15.1 606934 NDUFAF1, CIA30, CGI65, MC1DN11 NADH-ubiquinone oxidoreductase complex assembly factor 1 NDUFAF1 51103 ENSG00000137806 Mitochondrial complex I deficiency, nuclear type 11, 618234 (3), Autosomal recessive Ndufaf1 (MGI:1916952) -chr15 41417094 41483562 15q15.1 15q15.1 611633 RTF1, KIAA0252 RTF1, S. cerevisiae, homolog of RTF1 23168 ENSG00000137815 Rtf1 (MGI:1309480) -chr15 41493873 41503554 15q14-q21 15q15.1 147521 ITPKA Inositol 1,4,5-trisphosphate 3-kinase A ITPKA 3706 ENSG00000137825 Itpka (MGI:1333822) -chr15 41503636 41513886 15q15.1-q21.1 15q15.1 151520 LTK, TYK1 Leukocyte tyrosine kinase LTK 4058 ENSG00000062524 Ltk (MGI:96840) -chr15 41517175 41544256 15q15.1 15q15.1 611475 RPAP1, KIAA1403 RNA polymerase II-associated protein 1 RPAP1 26015 ENSG00000103932 Rpap1 (MGI:1916175) -chr15 41559211 41583588 15q15.1 15q15.1 600341 TYRO3 TYRO3 protein tyrosine kinase TYRO3 7301 ENSG00000092445 Tyro3 (MGI:104294) -chr15 41621224 41769939 15q15 15q15.1 616061 MGA, KIAA0518 MAX dimerization protein MGA MGA 23269 ENSG00000174197 Mga (MGI:1352483) -chr15 41774483 41827854 15q13 15q15.1 616786 MAPKBP1, JNKBP1, NPHP20 Mitogen-activated protein kinase-binding protein 1 MAPKBP1 23005 ENSG00000137802 Nephronophthisis 20, 617271 (3), Autosomal recessive Mapkbp1 (MGI:1347004) -chr15 41838846 41848142 Chr.15 15q15.1 606088 PLA2G4B Phospholipase A2, group IVB PLA2G4B 100137049 ENSG00000243708 Pla2g4b (MGI:2384819) -chr15 41848145 41894052 15q21 15q15.1 605916 SPTBN5, BSPECV Spectrin, beta, non-erythrocytic 5 SPTBN5 51332 ENSG00000137877 Sptbn5 (MGI:2685200) -chr15 41895932 41972556 15q11.1 15q15.1 605892 EHD4 EH domain-containing 4 EHD4 30844 ENSG00000103966 Ehd4 (MGI:1919619) -chr15 42067008 42094561 15q15 15q15.1 612864 PLA2G4D Phospholipase A2, Group IVD PLA2G4D 283748 ENSG00000159337 Pla2g4d (MGI:1925640) -chr15 42158700 42208330 15q15.1 15q15.1 612188 VPS39, VAM6, TLP, KIAA0770 VPS39 subunit of HOPS complex VPS39 23339 ENSG00000166887 Vps39 (MGI:2443189) -chr15 42273200 42353665 15q15.1-q15.2 15q15.1 104180 GANC Neutral alpha-glucosidase C GANC 2595 ENSG00000214013 Ganc (MGI:1923301) -chr15 42359500 42412316 15q15.1-q21.1 15q15.1 114240 CAPN3, CANP3, LGMDR1, LGMDD4 Calpain, large polypeptide L3 CAPN3 825 ENSG00000092529 Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3), Autosomal dominant Capn3 (MGI:107437) -chr15 42491243 42533057 15q21-q22 15q15.1-q15.2 602534 SNAP23 Synaptosomal-associated protein, 23kD SNAP23 8773 ENSG00000092531 Snap23 (MGI:109356) -chr15 42548827 42569993 15q15.2 15q15.2 613429 HAUS2, CEP27 HAUS augmin-like complex, subunit 2 HAUS2 55142 ENSG00000137814 Haus2 (MGI:1913546) -chr15 42575605 42720997 15q15 15q15.2 614642 STARD9, KIAA1300 START domain-containing protein 9 STARD9 57519 ENSG00000159433 Stard9 (MGI:3045258) -chr15 42723543 42737132 15q15 15q15.2 607465 CDAN1, CDA1, CDAN1A Codanin 1 CDAN1 146059 ENSG00000140326 Dyserythropoietic anemia, congenital, type Ia, 224120 (3), Autosomal recessive Cdan1 (MGI:1916218) -chr15 42738729 42920994 15q15.2 15q15.2 611695 TTBK2, SCA11 Tau tubulin kinase 2 TTBK2 146057 ENSG00000128881 Spinocerebellar ataxia 11, 604432 (3), Autosomal dominant Ttbk2 (MGI:2155779) -chr15 42942896 43106037 15q15-q21.1 15q15.2 605981 UBR1, JBS Ubiquitin-protein ligase E3-alpha UBR1 197131 ENSG00000159459 Johanson-Blizzard syndrome, 243800 (3), Autosomal recessive Ubr1 (MGI:1277977) -chr15 43185117 43197176 Chr.15 15q15.2 607089 CCNDBP1, GCIP Cyclin D-type-binding protein 1 CCNDBP1 23582 ENSG00000166946 Ccndbp1 (MGI:109595) -chr15 43197226 43225855 15q15 15q15.2 177070 EPB42, SPH5 Erythrocyte surface protein band 4.2 EPB42 2038 ENSG00000166947 Spherocytosis, type 5, 612690 (3) Epb42 (MGI:95402) -chr15 43232589 43266927 15q15.2 15q15.2 603805 TGM5, TGX, PSS2 Transglutaminase 5 TGM5 9333 ENSG00000104055 Peeling skin syndrome 2, 609796 (3), Autosomal recessive Tgm5 (MGI:1921426) -chr15 43276270 43302254 15q15.2 15q15.2-q15.3 606776 TGM7, TGMZ Transglutaminase 7 TGM7 116179 ENSG00000159495 Tgm7 (MGI:2151164) -chr15 43300000 44500000 15q15.3 611102 DEL15q15.3, C15DELq15.3 Chromosome 15q15.3 deletion syndrome Deafness and male infertility, 611102 (4), Autosomal recessive -chr15 43300000 59000000 15q15.3-q22.1 601228 HMPS1, CRAC1, CRCS4, DUP15q, C15DUPq Polyposis syndrome, hereditary mixed 1 duplication of 40kb of 15q resulting in overexpression of GREM1 Polyposis syndrome, hereditary mixed 1, 601228 (4), Autosomal dominant; {Colorectal cancer, susceptibility to, 4}, 601228 (4), Autosomal dominant -chr15 43300000 44500000 15q15 605419 SCZD10 Schizophrenia 10 63944 between D15S1042 and D15S659 {Schizophrenia 10}, 605419 (2), Autosomal dominant -chr15 43323648 43330572 15q15.3 15q15.3 611246 LCMT2, TYW4, KIAA0547 Leucine carboxyl methyltransferase 2 LCMT2 9836 ENSG00000168806 Lcmt2 (MGI:1353659) -chr15 43330340 43354568 15q15.3 15q15.3 619346 ADAL Adenosine deaminase-like protein ADAL 161823 ENSG00000168803 Adal (MGI:1923144) -chr15 43371072 43409770 15q15 15q15.3 609610 TUBGCP4, GCP4, MCCRP3 Tubulin-gamma complex-associated protein 4 TUBGCP4 27229 ENSG00000137822 Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3), Autosomal recessive Tubgcp4 (MGI:1196293) -chr15 43403060 43510639 15q15-q21 15q15.3 605230 TP53BP1, 53BP1 Tumor protein p53-binding protein-1 TP53BP1 7158 ENSG00000067369 Trp53bp1 (MGI:1351320) -chr15 43517607 43531610 15q13-qter 15q15.3 600178 MAP1A, MAP1L Microtubule-associated protein 1A MAP1A 4130 ENSG00000166963 Map1a (MGI:1306776) -chr15 43533474 43590271 15q15.3 15q15.3 610979 PPIP5K1, HISPPD2A, IPS1, KIAA0377 Diphosphoinositol pentakisphosphate kinase 1 PPIP5K1 9677 ENSG00000168781 Ppip5k1 (MGI:2443281) -chr15 43592856 43599405 15q15 15q15.3 123290 CKMT1B, CKMT1 Creatine kinase, mitochondrial 1B CKMT1B 1159 ENSG00000237289 centromeric to CKMT1A Ckmt1 (MGI:99441) -chr15 43599562 43618799 15q15 15q15.3 606440 STRC, DFNB16 Stereocilin STRC 161497 ENSG00000242866 Deafness, autosomal recessive 16, 603720 (3), Autosomal recessive Strc (MGI:2153816) -chr15 43628502 43648883 15q15.1-q15.3 15q15.3 607249 CATSPER2 Cation channel, sperm-associated, 2 CATSPER2 117155 ENSG00000166762 in region with tandem duplication containing a CATSPER2 pseudogene Catsper2 (MGI:2387404) -chr15 43692643 43699221 15q15 15q15.3 613415 CKMT1A Creatine kinase, mitochondrial 1A CKMT1A 548596 ENSG00000223572 telomeric to CKMT1B Ckmt1 (MGI:99441) -chr15 43746437 43773277 15q15 15q15.3 602046 GRP58 Glucose regulated protein, 58kD PDIA3 2923 ENSG00000167004 Pdia3 (MGI:95834) -chr15 43772619 43776965 15q15.3 15q15.3 609885 ELL3 Elongation factor, RNA polymerase II, 3 ELL3 80237 ENSG00000128886 Ell3 (MGI:2673679) -chr15 43777085 43796088 15q14.3 15q15.3 605054 SERF2, H4F5REL Small EDRK-rich factor 2 SERF2 10169 ENSG00000140264 Gm12481,Serf2 (MGI:3650743,MGI:1337041) -chr15 43794161 43800219 15q15.3 15q15.3 614550 SERINC4 Serine incorporator 4 SERINC4 619189 ENSG00000184716 Serinc4 (MGI:2441842) -chr15 43800420 43804426 15q15.3 15q15.3 612784 HYPK Huntingtin-interacting protein K HYPK 25764 ENSG00000242028 Hypk (MGI:1914943) -chr15 43804491 43824689 15q15-q12 15q15.3 600215 MFAP1 Microfibrillar-associated protein-1 MFAP1 4236 ENSG00000140259 Mfap1a,Mfap1b (MGI:3694697,MGI:1914782) -chr15 43870763 44195270 15q15.3 15q15.3 616309 FRMD5 FERM domain-containing protein 5 FRMD5 84978 ENSG00000171877 Frmd5 (MGI:2442557) -chr15 44427328 44529037 15q15-q21.1 15q15.3-q21.1 618739 CTDSPL2, SCP4 CTD small phosphatase-like protein 2 CTDSPL2 51496 ENSG00000137770 Ctdspl2 (MGI:1196405) -chr15 44537146 44562802 15q15.3 15q21.1 603910 EIF3J, EIF3S1 Eukaryotic translation initiation factor 3, subunit J EIF3J 8669 ENSG00000104131 Eif3j2,Eif3j1 (MGI:1925905,MGI:3704486) -chr15 44562695 44663677 15q21.1 15q21.1 610844 SPG11, KIAA1840, FLJ21439, ALS5, CMT2X SPG11 vesicle trafficking associated, spatacsin SPG11 80208 ENSG00000104133 Amyotrophic lateral sclerosis 5, juvenile, 602099 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3), Autosomal recessive; Spastic paraplegia 11, autosomal recessive, 604360 (3), Autosomal recessive Spg11 (MGI:2444989) -chr15 44665731 44711405 15q21.1 15q21.1 614661 PATL2, PAT1A, OOMD4 PAT1 homolog 2 PATL2 197135 ENSG00000229474 Oocyte maturation defect 4, 617743 (3), Autosomal recessive Patl2 (MGI:1914828) -chr15 44711491 44718144 15q21-q22 15q21.1 109700 B2M, IMD43 Beta-2-microglobulin B2M 567 ENSG00000166710 mutation identified in 1 FVA family ?Amyloidosis, familial visceral, 105200 (3), Autosomal dominant; Immunodeficiency 43, 241600 (3), Autosomal recessive B2m (MGI:88127) -chr15 44736527 44767826 15q21.1 15q21.1 616017 TRIM69, TRIF, RNF36 Tripartite motif-containing protein 69 TRIM69 140691 ENSG00000185880 Trim69 (MGI:1918178) -chr15 44956673 44979228 15q21.1 15q21.1 617131 TERB2, C15orf43 Telomere repeat-binding bouquet formation protein 2 TERB2 145645 ENSG00000167014 Terb2 (MGI:1921651) -chr15 45023194 45077184 15q15.3 15q21.1 182500 SORD, SORD1, SORDD Sorbitol dehydrogenase SORD 6652 ENSG00000140263 Sorbitol dehydrogenase deficiency with peripheral neuropathy, 618912 (3), Autosomal recessive Sord (MGI:98266) -chr15 45092649 45114171 15q15.3 15q21.1 606759 DUOX2, THOX2, TDH6 Dual oxidase 2 (thyroid oxidase 2) DUOX2 50506 ENSG00000140279 Thyroid dyshormonogenesis 6, 607200 (3), Autosomal recessive Duox2 (MGI:3036280) -chr15 45114320 45118420 15q15 15q21.1 612772 DUOXA2, TDH5 Dual oxidase maturation factor 2 DUOXA2 405753 ENSG00000140274 head-to-head with DUOX2 Thyroid dyshormonogenesis 5, 274900 (3), Autosomal recessive Duoxa2 (MGI:1914061) -chr15 45117365 45129937 15q15 15q21.1 612771 DUOXA1 Dual oxidase maturation factor 1 DUOXA1 90527 ENSG00000140254 tail-to-tail with DUOXA2 Duoxa1 (MGI:2384861) -chr15 45129993 45165577 15q15.3 15q21.1 606758 DUOX1, THOX1 Dual oxidase 1 (thyroid oxidase 1) DUOX1 53905 ENSG00000137857 Duox1 (MGI:2139422) -chr15 45167213 45201115 15q21.1 15q21.1 617313 SHF SH2 domain-containing adaptor protein F SHF 90525 ENSG00000138606 Shf (MGI:3613669) -chr15 45252233 45277845 15q15 15q21.1 606208 SLC28A2, CNT2, SPNT1 Solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 SLC28A2 9153 ENSG00000137860 Slc28a2,Slc28a2b (MGI:3702173,MGI:1913105) -chr15 45361123 45402226 15q21.1 15q21.1 602360 GATM, AGAT, CCDS3, FRTS1 L-arginine:glycine amidinotransferase GATM 2628 ENSG00000171766 Cerebral creatine deficiency syndrome 3, 612718 (3), Autosomal recessive; Fanconi renotubular syndrome 1, 134600 (3), Autosomal dominant Gatm (MGI:1914342) -chr15 45430609 45433339 15q21.1 15q21.1 608409 C15orf48, NMES1 Chromosome 15 open reading frame 48 C15orf48 84419 ENSG00000166920 AA467197 (MGI:3034182) -chr15 45479605 45523754 15q21.1 15q21.1 602095 SLC30A4, ZNT4 Solute carrier family 30 (zinc transporter), member 4 SLC30A4 7782 ENSG00000104154 Slc30a4 (MGI:1345282) -chr15 45511135 45556729 15q21.1 15q21.1 611314 HMGN2P46, C15orf21 High mobility group nucleosomal binding domain 2 pseudogene 46 HMGN2P46 283651 -chr15 45587122 45609715 15q15 15q21.1 604310 BLOC1S6, BLOS6, PLDN, PA, HPS9 Biogenesis of lysosome-related organelles complex 1, subunit 6 BLOC1S6 26258 ENSG00000104164 mutation identified in 1 HPS9 patient ?Hermansky-Pudlak syndrome 9, 614171 (3), Autosomal recessive Bloc1s6 (MGI:1927580) -chr15 45631147 45691280 15q21.1 15q21.1 617658 SQOR, SQRDL Sulfide quinone oxidoreductase SQOR 58472 ENSG00000137767 Sulfide:quinone oxidoreductase deficiency, 619221 (3), Autosomal recessive Sqor (MGI:1929899) -chr15 47184088 47774227 15q21.1 15q21.1 609295 SEMA6D, KIAA1479 Semaphorin 6D SEMA6D 80031 ENSG00000137872 Sema6d (MGI:2387661) -chr15 48120989 48142671 15q21.1 15q21.1 609802 SLC24A5, NCKX5, SHEP4, OCA6 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 SLC24A5 283652 ENSG00000188467 [Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3), Autosomal recessive; Albinism, oculocutaneous, type VI, 113750 (3), Autosomal recessive Slc24a5 (MGI:2677271) -chr15 48134631 48178516 15q21.1 15q21.1 619395 MYEF2, KIAA1341 Myelin expression factor 2 MYEF2 50804 ENSG00000104177 Myef2,Myef2l (MGI:3641855,MGI:104592) -chr15 48206301 48304077 15q15-q21.1 15q21.1 600839 SLC12A1, NKCC2 Solute carrier family 12 (sodium/potassium/chloride transporters), member 1 SLC12A1 6557 ENSG00000074803 Bartter syndrome, type 1, 601678 (3), Autosomal recessive Slc12a1 (MGI:103150) -chr15 48329990 48343372 15q15-q21.1 15q21.1 601266 DUT dUTP pyrophosphatase DUT 1854 ENSG00000128951 Dut (MGI:1346051) -chr15 48408312 48645708 15q21.1 15q21.1 134797 FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS Fibrillin-1 FBN1 2200 ENSG00000166147 Geleophysic dysplasia 2, 614185 (3), Autosomal dominant; Weill-Marchesani syndrome 2, dominant, 608328 (3), Autosomal dominant; Ectopia lentis, familial, 129600 (3), Autosomal dominant; MASS syndrome, 604308 (3), Autosomal dominant; Marfan lipodystrophy syndrome, 616914 (3), Autosomal dominant; Acromicric dysplasia, 102370 (3), Autosomal dominant; Marfan syndrome, 154700 (3), Autosomal dominant; Stiff skin syndrome, 184900 (3), Autosomal dominant Fbn1 (MGI:95489) -chr15 48662533 48811903 15q21.1 15q21.1 613529 CEP152, KIAA0912, MCPH9, SCKL5 Centrosomal protein, 152kD CEP152 22995 ENSG00000103995 Microcephaly 9, primary, autosomal recessive, 614852 (3), Autosomal recessive; Seckel syndrome 5, 613823 (3), Autosomal recessive Cep152 (MGI:2139083) -chr15 48823740 48963918 15q21.1 15q21.1 617372 SHC4, RALP, SHCD SHC transforming protein 4 SHC4 399694 ENSG00000185634 Shc4 (MGI:2655364) -chr15 48878133 48880172 15q21.1-q21.2 15q21.1 605894 EID1, CRI1, C15orf3 EP300-interacting inhibitor of differentiation 1 EID1 23741 ENSG00000255302 Eid1 (MGI:1889651) -chr15 48988637 49046445 15q21.1 15q21.1 615756 SECISBP2L, SBP2L, KIAA0256 Selenocysteine insertion sequence-binding protein 2-like SECISBP2L 9728 ENSG00000138593 Secisbp2l (MGI:1917604) -chr15 49122726 49155598 15q21.2 15q21.1 604508 TRIP15, SGN2, COPS2 Thyroid hormone receptor interactor-15 COPS2 9318 ENSG00000166200 Cops2 (MGI:1330276) -chr15 49155773 49367882 Chr.15 15q21.1-q21.2 137028 GALK2, GK2 Galactokinase-2 GALK2 2585 ENSG00000156958 Galk2 (MGI:1917226) -chr15 49423241 49488774 15q15-q21.1 15q21.2 148180 FGF7 Fibroblast growth factor-7 (keratinocyte growth factor) FGF7 2252 ENSG00000140285 Fgf7 (MGI:95521) -chr15 50182195 50236384 15q21.2 15q21.2 603247 SLC27A2, FACVL1, VLACS Solute carrier family 27 (fatty acid transporter), member 2 (fatty acid CoA ligase, very long-chain 1) SLC27A2 11001 ENSG00000140284 Slc27a2 (MGI:1347099) -chr15 50241944 50266048 15q21-q22 15q21.2 142704 HDC Histidine decarboxylase HDC 3067 ENSG00000140287 {Gilles de la Tourette syndrome, susceptibility to}, 137580 (3), Autosomal dominant Hdc (MGI:96062) -chr15 50275388 50359305 15q21.2 15q21.2 600610 GABPB, BABPB2, GABPB1, E4TF1B, NRF2B1 GA-binding protein transcription factor, beta subunit GABPB1 2553 ENSG00000104064 Gabpb1 (MGI:95611) -chr15 50424358 50514420 15q21.2 15q21.2 603158 USP8, HUMORF8, PITA4 Ubiquitin-specific protease 8 USP8 9101 ENSG00000138592 Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3) Usp8 (MGI:1934029) -chr15 50557157 50686796 15q21 15q21.2 605692 TRPM7, LTRPC7, CHAK, ALSPDC Transient receptor potential cation channel, subfamily M, member 7 TRPM7 54822 ENSG00000092439 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3), Autosomal dominant Trpm7 (MGI:1929996) -chr15 50702265 50765711 15q15.3 15q21.2 608238 SPPL2A, IMP3 Signal peptide peptidase-like 2A SPPL2A 84888 ENSG00000138600 Sppl2a (MGI:1913802) -chr15 50908568 51005899 15q21.2 15q21.2 607244 AP4E1, SPG51, CPSQ4, STUT1 Adaptor-related protein complex 4, epsilon-1 subunit AP4E1 23431 ENSG00000081014 Stuttering, familial persistent, 1, 184450 (3), Autosomal dominant; Spastic paraplegia 51, autosomal recessive, 613744 (3), Autosomal recessive Ap4e1 (MGI:1336993) -chr15 51056600 51105275 15q21.2 15q21.2 616438 TNFAIP8L3, TIPE3 Tumor necrosis factor-alpha-induced protein 8-like 3 TNFAIP8L3 388121 ENSG00000183578 Tnfaip8l3 (MGI:2685363) -chr15 51208056 51338595 15q21.1 15q21.2 107910 CYP19A1, CYP19, ARO Cytochrome P450, family 19, subfamily A, polypeptide 1 (aromatization of androgens) CYP19A1 1588 ENSG00000137869 close to CYP11 in mouse Aromatase deficiency, 613546 (3); Aromatase excess syndrome, 139300 (3), Autosomal dominant Cyp19a1 (MGI:88587) -chr15 51341654 51413364 15q21.2 15q21.2 608603 GLDN, CRGL2, LCCS11 Gliomedin GLDN 342035 ENSG00000186417 Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive Gldn (MGI:2388361) -chr15 51447787 51622832 15q21.2 15q21.2 612186 DMXL2, RC3, KIAA0856, PEPNS, DFNA71, DEE81 DMX-like 2 DMXL2 23312 ENSG00000104093 mutation identified in 1 PEPNS family and 1 DFNA71 family Developmental and epileptic encephalopathy 81, 618663 (3), Autosomal recessive; ?Deafness, autosomal dominant 71, 617605 (3), Autosomal dominant; ?Polyendocrine-polyneuropathy syndrome, 616113 (3), Autosomal recessive Dmxl2 (MGI:2444630) -chr15 51681502 51721025 15q21.3 15q21.2 611796 SCG3 Secretogranin III SCG3 29106 ENSG00000104112 Scg3 (MGI:103032) -chr15 51751560 51816362 15q21.1-q21.2 15q21.2 602928 TMOD2 Tropomodulin 2, neuronal TMOD2 29767 ENSG00000128872 Tmod2 (MGI:1355335) -chr15 51829652 51915724 15q21.1-q21.2 15q21.2 605112 TMOD3 Tropomodulin 3 TMOD3 29766 ENSG00000138594 Tmod3 (MGI:1355315) -chr15 51938023 51971797 15q15.3 15q21.2 610507 LEO1, RDL LEO1 RNA polymerase II associated factor, S. cerevisiae, homolog of LEO1 123169 ENSG00000166477 Leo1 (MGI:2685031) -chr15 52019218 52067374 15q21 15q21.2 602904 MAPK6, PRKM6, ERK3 Mitogen-activated protein kinase 6 MAPK6 5597 ENSG00000069956 Mapk6 (MGI:1354946) -chr15 52109262 52112774 15q21 15q21.2 606910 BCL2L10 BCL2-like 10 BCL2L10 10017 ENSG00000137875 Bcl2l10 (MGI:1330841) -chr15 52115099 52191391 15q21.2 15q21.2 604447 GNB5, GB5, IDDCA, LADCI Guanine nucleotide-binding protein, beta-5 GNB5 10681 ENSG00000069966 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3), Autosomal recessive; Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive Gnb5 (MGI:101848) -chr15 52192317 52295803 15q21 15q21.2 610022 MYO5C Myosin Vc MYO5C 55930 ENSG00000128833 Myo5c (MGI:2442485) -chr15 52307282 52529049 15q21 15q21.2 160777 MYO5A, MYH12, GS1 Myosin Va MYO5A 4644 ENSG00000197535 Griscelli syndrome, type 1, 214450 (3), Autosomal recessive Myo5a (MGI:105976) -chr15 52547044 52569445 Chr.15 15q21.2 605487 ARPP19, ARPP16 cAMP-regulated phosphoprotein, 19kD ARPP19 10776 ENSG00000128989 Arpp19 (MGI:1891691) -chr15 52600000 58800000 15q21 105600 CDAN3, CDA3 Congenital dyserythropoietic anemia, type III 981 Dyserythropoietic anemia, congenital, type III, 105600 (2), Autosomal dominant -chr15 52600000 67200000 15q21-q22 605728 CTRCT25, CCSSO Cataract 25 80770 Cataract 25, 605728 (2) -chr15 52755052 52790335 15q21.1-q21.2 15q21.3 604164 ONECUT1, HNF6A, HNF6 One cut domain, family member 1 (hepatocyte nuclear factor 6-alpha) ONECUT1 3175 ENSG00000169856 Onecut1 (MGI:1196423) -chr15 53513740 53762877 15q21.3 15q21.3 613214 WDR72, AI2A3 WD repeat-containing protein 72 WDR72 256764 ENSG00000166415 Amelogenesis imperfecta, type IIA3, 613211 (3), Autosomal recessive Wdr72 (MGI:3583957) -chr15 53837572 54633439 15q21.3 15q21.3 614568 UNC13C unc-13 homolog C UNC13C 440279 ENSG00000137766 Unc13c (MGI:2149021) -chr15 55180805 55196940 15q21.3 15q21.3 613262 RSL24D1, RLP24 Ribosomal protein L24 domain-containing protein 1 RSL24D1 51187 ENSG00000137876 Rsl24d1 (MGI:2681840) -chr15 55202965 55291337 15q21 15q21.3 603868 RAB27A, RAM, GS2 Ras-associated protein RAB27A RAB27A 5873 ENSG00000069974 Griscelli syndrome, type 2, 607624 (3), Autosomal recessive Rab27a (MGI:1861441) -chr15 55317183 55348724 15q21.3 15q21.3 618809 PIGBOS1 PIGB opposite strand 1 PIGBOS1 101928527 ENSG00000225973 -chr15 55318938 55355647 15q21-q22 15q21.3 604122 PIGB, DEE80 Phosphatidylinositol glycan, class B PIGB 9488 ENSG00000069943 Developmental and epileptic encephalopathy 80, 618580 (3), Autosomal recessive Pigb (MGI:1891825) -chr15 55355238 55408358 15q21.3 15q21.3 611326 CCPG1, KIAA1254, CPR8 Cell cycle progression 1 CCPG1 9236 ENSG00000260916 Ccpg1 (MGI:1196419) -chr15 55417754 55508233 15q21 15q21.3 608706 DNAAF4, DYX1C1, DYXC1, DYX1, CILD25 Dynein, axonemal, assembly factor 4 DNAAF4 161582 ENSG00000256061 not confirmed by some studies {Dyslexia, susceptibility to, 1}, 127700 (3), Autosomal dominant; Ciliary dyskinesia, primary, 25, 615482 (3), Autosomal recessive Dnaaf4 (MGI:1914935) -chr15 55538883 55588970 15q21.3 15q21.3 606902 PYGO1 Pygopus, Drosophila, homolog of, 1 PYGO1 26108 ENSG00000171016 Pygo1 (MGI:1919385) -chr15 55611539 55743151 15q21.3 15q21.3 613261 PRTG Protogenin, chicken, homolog of PRTG 283659 ENSG00000166450 Prtg (MGI:2444710) -chr15 55826916 55993611 15q 15q21.3 602278 NEDD4 Neural precursor cell expressed, developmentally downregulated-4 NEDD4 4734 ENSG00000069869 Nedd4 (MGI:97297) -chr15 56087279 56247653 15q21.3 15q21.3 612660 RFX7, RFXDC2 Regulatory factor X, 7 RFX7 64864 ENSG00000181827 Rfx7 (MGI:2442675) -chr15 56428723 56465136 15q21.3 15q21.3 610766 MNS1, FLJ11222, HTX9 Meiosis-specific nuclear structural protein 1 MNS1 55329 ENSG00000138587 Heterotaxy, visceral, 9, autosomal, with male infertility, 618948 (3), Autosomal recessive Mns1 (MGI:107933) -chr15 56918089 57292594 15q21 15q21.3 600480 TCF12, HTF4, CRS3 Transcription factor-12 (HTF4, helix-loop-helix transcription factors-4) TCF12 6938 ENSG00000140262 Craniosynostosis 3, 615314 (3), Autosomal dominant Tcf12 (MGI:101877) -chr15 57376457 57550722 15q21.2-q21.3 15q21.3 607856 CGNL1, FLJ14957, KIAA1749 Cingulin-like 1 CGNL1 84952 ENSG00000128849 Cgnl1 (MGI:1915428) -chr15 57591903 57685363 15q21.3-q22.1 15q21.3 614071 GUP, GCOM1, MYOZAP GRINL1A complex locus upstream gene MYZAP 100820829 ENSG00000263155 Myzap (MGI:2142908) -chr15 57706713 57717556 15q22.1 15q21.3 606485 POLR2M, GDOWN, GRINL1A Polymerase II, RNA, subunit M POLR2M 81488 ENSG00000255529 Polr2m,Myzap (MGI:2142908,MGI:107282) -chr15 57953428 58065710 15q21.3 15q21.3 603687 ALDH1A2, RALDH2 Aldehyde dehydrogenase 1 family, member A2 (retinaldehyde dehydrogenase 2) ALDH1A2 8854 ENSG00000128918 Aldh1a2 (MGI:107928) -chr15 58138168 58185910 15q22 15q21.3 602914 AQP9 Aquaporin 9 AQP9 366 ENSG00000103569 Aqp9 (MGI:1891066) -chr15 58410456 58569843 15q21.3 15q21.3 151670 LIPC, HL, LIPH, HDLCQ12 Lipase C, hepatic LIPC 3990 ENSG00000166035 {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Hepatic lipase deficiency, 614025 (3), Autosomal recessive; [High density lipoprotein cholesterol level QTL 12], 612797 (3) Lipc (MGI:96216) -chr15 58588808 58749706 15q21.3 15q21.3 602192 ADAM10, MADM, RAK, AD18 ADAM metallopeptidase domain 10 ADAM10 102 ENSG00000137845 {Alzheimer disease 18, susceptibility to}, 615590 (3); Reticulate acropigmentation of Kitamura, 615537 (3), Autosomal dominant Adam10 (MGI:109548) -chr15 58771257 58861899 15q21.3-q22.1 15q21.3-q22.1 618408 MINDY2, FAM63B MINDY lysine-48 deubiquitinase 2 MINDY2 54629 ENSG00000128923 Mindy2 (MGI:2443086) -chr15 58987587 59097418 15q22.1-q22.2 15q22.1-q22.2 605840 RNF111 Ring finger protein 111 RNF111 54778 ENSG00000157450 Rnf111 (MGI:1934919) -chr15 59105145 59125044 15q22.2 15q22.2 602755 CCNB2 Cyclin B2 CCNB2 9133 ENSG00000157456 Ccnb2 (MGI:88311) -chr15 59132433 59372870 15q21-q22 15q22.2 601479 MYO1E, MYO1C, FSGS6 Myosin IE MYO1E 4643 ENSG00000157483 Glomerulosclerosis, focal segmental, 6, 614131 (3), Autosomal recessive Myo1e (MGI:106621) -chr15 59611782 59622722 15q21.3 15q22.2 606836 GCNT3 Glucosaminyl (N-acetyl) transferase 3, mucin-type GCNT3 9245 ENSG00000140297 Gcnt3 (MGI:1919327) -chr15 59638061 59657514 15q22.2 15q22.2 600519 GTF2A2, TF2A2 General transcription factor IIA, gamma subunit GTF2A2 2958 ENSG00000140307 pseudogenes on chr. 1, 8, 9 Gtf2a2 (MGI:1933289) -chr15 59659145 59689319 15q22.2 15q22.2 603292 BNIP2, NIP2 BCL2/adenovirus E1B 19kD protein-interacting protein 2 BNIP2 663 ENSG00000140299 Bnip2 (MGI:109327) -chr15 60347150 60398024 15q21-q22 15q22.2 151740 ANXA2, ANX2L4, LPC2D, LIP2 Annexin A2 (lipocortin I) ANXA2 302 ENSG00000182718 pseudogenes ANX2P1 on 4q21-q31; ANX2P2 on 9p13; ANX2P3 on 10q24-q22 Anxa2 (MGI:88246) -chr15 60419608 60479141 15q21.3 15q22.2 610835 NARG2 NMDA receptor-regulated 2 ICE2 79664 ENSG00000128915 pseudogenes on chr.4 and chr.3 Ice2 (MGI:2135947) -chr15 60488283 61229301 15q21-q22 15q22.2 600825 RORA, IDDECA RAR-related orphan receptor A RORA 6095 ENSG00000069667 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3), Autosomal dominant Rora (MGI:104661) -chr15 61852388 62060446 15q22.1 15q22.2 608879 VPS13C, KIAA1421, PARK23 Vacuolar protein sorting 13 homolog C VPS13C 54832 ENSG00000129003 Parkinson disease 23, autosomal recessive, early onset, 616840 (3), Autosomal recessive Vps13c (MGI:2444207) -chr15 62066976 62070916 15q21.3 15q22.2 610343 C2CD4A, NLF1 C2 calcium-dependent domain containing 4A C2CD4A 145741 ENSG00000198535 C2cd4a (MGI:3645763) -chr15 62163534 62165731 15q21.3 15q22.2 610344 C2CD4B, NLF2 C2 calcium-dependent domain containing 4B C2CD4B 388125 ENSG00000205502 C2cd4b (MGI:1922947) -chr15 62390522 62844630 15q22.2 15q22.2 607349 TLN2, KIAA0320 Talin 2 TLN2 83660 ENSG00000171914 Tln2 (MGI:1917799) -chr15 62823956 62824040 15q22.2 15q22.2 615845 MIR190A Micro RNA 190A MIR190A 406965 ENSG00000211137 Mir190a (MGI:2676854) -chr15 63042697 63071914 15q22.1 15q22.2 191010 TPM1, CMH3, CMD1Y , LVNC9 Tropomyosin 1, alpha TPM1 7168 ENSG00000140416 Left ventricular noncompaction 9, 611878 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 3, 115196 (3), Autosomal dominant; Cardiomyopathy, dilated, 1Y, 611878 (3), Autosomal dominant Tpm1 (MGI:98809) -chr15 63121805 63142061 15q22.1 15q22.2 608440 LACTB Lactamase, beta LACTB 114294 ENSG00000103642 Lactb (MGI:1933395) -chr15 63148248 63157476 15q22.2 15q22.2 612055 RPS27L Ribosomal protein S27-like RPS27L 51065 ENSG00000185088 Rps27l (MGI:1915191) -chr15 63189535 63267775 15q22.2 15q22.2 613532 RAB8B Ras-associated protein RAB8B RAB8B 51762 ENSG00000166128 Rab8b (MGI:2442982) -chr15 63277549 63309125 15q22.2 15q22.2 607630 APH1B Aph-1 homolog B, gamma-secretase subunit APH1B 83464 ENSG00000138613 Aph1b,Aph1c (MGI:1915568,MGI:3522097) -chr15 63321377 63381845 15q22 15q22.2 603263 CA12 Carbonic anhydrase XII CA12 771 ENSG00000074410 Hyperchlorhidrosis, isolated, 143860 (3), Autosomal recessive Car12 (MGI:1923709) -chr15 63504592 63594632 15q22.3 15q22.31 604728 USP3 Ubiquitin-specific protease 3 USP3 9960 ENSG00000140455 Usp3 (MGI:2152450) -chr15 63597386 63603431 15q22.1 15q22.31 609088 FBXL22, FBL22 F-box and leucine-rich repeat protein 22 FBXL22 283807 ENSG00000197361 Fbxl22 (MGI:1921415) -chr15 63608617 63833947 15q22.31 15q22.31 605109 HERC1, MDFPMR HECT domain and RCC1-like domain 1 HERC1 8925 ENSG00000103657 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3), Autosomal recessive Herc1 (MGI:2384589) -chr15 63907035 64046484 15q22.31 15q22.31 616567 DAPK2, DRP1 Death-associated protein kinase 2 DAPK2 23604 ENSG00000035664 Dapk2 (MGI:1341297) -chr15 64072564 64093837 15q22.31 15q22.31 618382 CIAO2A, CIA2A, FAM96A Cytosolic iron-sulfur assembly component 2A CIAO2A 84191 ENSG00000166797 Ciao2a (MGI:1915500) -chr15 64094065 64144230 15q22.3 15q22.31 601272 SNX1, SNX1A Sorting nexin 1 SNX1 6642 ENSG00000028528 Snx1 (MGI:1928395) -chr15 64155816 64163021 15q21-q22 15q22.31 123841 PPIB, CYPB, OI9 Peptidyl-prolyl isomerase B PPIB 5479 ENSG00000166794 Osteogenesis imperfecta, type IX, 259440 (3), Autosomal recessive Ppib (MGI:97750) -chr15 64165524 64356172 15q22.1-q22.31 15q22.31 606274 CSNK1G1 Casein kinase I, gamma-1 CSNK1G1 53944 ENSG00000169118 Csnk1g1 (MGI:2660884) -chr15 64364303 64387686 15q22.1 15q22.31 610696 PAF, OEATC1, KIAA0101 PCNA-associated factor, 15kD PCLAF 9768 ENSG00000166803 Pclaf (MGI:1915276) -chr15 64387835 64455302 15q22.31 15q22.31 604501 TRIP4, ASC1, SMABF1, MDCDC Thyroid hormone receptor interactor 4 TRIP4 9325 ENSG00000103671 mutation identified in 1 MDCDC family ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3), Autosomal recessive; Spinal muscular atrophy with congenital bone fractures 1, 616866 (3), Autosomal recessive Trip4 (MGI:1928469) -chr15 64460349 64686067 15q22.31 15q22.31 617474 ZNF609, KIAA0295 Zinc finger ptoein 609 ZNF609 23060 ENSG00000180357 Zfp609 (MGI:2674092) -chr15 64687573 64703280 15q22.31 15q22.31 604152 OAZ2 Ornithine decarboxylase antizyme 2 OAZ2 4947 ENSG00000180304 Oaz2 (MGI:109492) -chr15 64739890 64775588 15q22.31 15q22.31 619034 RBPMS2 RNA-binding protein, mRNA-processing factor, 2 RBPMS2 348093 ENSG00000166831 Rbpms2 (MGI:1919223) -chr15 64815631 64827172 15q22.31 15q22.31 610953 PIF1, PIF Pif1, S. cerevisiae, homolog of PIF1 80119 ENSG00000140451 Pif1 (MGI:2143057) -chr15 64963021 64989913 15q21-q22 15q22.31 608181 ACP33, MAST, SPG21 Acidic cluster protein, 33kD, (maspardin) SPG21 51324 ENSG00000090487 Mast syndrome, 248900 (3), Autosomal recessive Spg21 (MGI:106403) -chr15 65001511 65029638 15q22.31 15q22.31 611766 MTFMT, COXPD15, MC1DN27 Mitochondrial methionyl-tRNA formyltransferase MTFMT 123263 ENSG00000103707 Combined oxidative phosphorylation deficiency 15, 614947 (3), Autosomal recessive; Mitochondrial complex I deficiency, nuclear type 27, 618248 (3), Autosomal recessive Mtfmt (MGI:1916856) -chr15 65045386 65053396 15q22.31 15q22.31 612085 SLC51B, OSTB, PBAM2 Solute carrier family 51, beta subunit (organic solute transporter, beta) SLC51B 123264 ENSG00000186198 mutation identified in 1 PBAM2 family ?Bile acid malabsorption, primary, 2, 619481 (3) Slc51b (MGI:3582052) -chr15 65076745 65079947 15q22.31 15q22.31 613727 KBTBD13, NEM6 Kelch repeat and BTB/POZ domains-containing protein 13 KBTBD13 390594 ENSG00000234438 Nemaline myopathy 6, autosomal dominant, 609273 (3), Autosomal dominant Kbtbd13 (MGI:1921742) -chr15 65117378 65133807 15q22.31 15q22.31 608138 PDCD7 Programmed cell death 7 PDCD7 10081 ENSG00000090470 Pdcd7 (MGI:1859170) -chr15 65148218 65185373 15q22.31 15q22.31 615611 CLPX, EPP2 Caseinolytic mitochondrial matrix peptidase chaperone subunit CLPX 10845 ENSG00000166855 mutation identified in 1 EPP2 family ?Protoporphyria, erythropoietic, 2, 618015 (3), Autosomal dominant Clpx (MGI:1346017) -chr15 65194759 65213141 15q22 15q22.31 603489 CILP Cartilage intermediate layer protein CILP 8483 ENSG00000138615 {Lumbar disc disease, susceptibility to}, 603932 (3) Cilp (MGI:2444507) -chr15 65296050 65296166 15q22.31 15q22.31 180691 RNU5A, RNU5 RNA, U5A small nuclear RNU5A-1 26831 ENSG00000199568 -chr15 65327126 65378001 15q22.3-q23 15q22.31 604184 PUNC Putative neuronal cell adhesion molecule IGDCC3 9543 ENSG00000174498 Igdcc3 (MGI:1202390) -chr15 65381483 65422946 15q22.31 15q22.31 616810 IGDCC4, NOPE, KIAA1628 Immunoglobulin superfamily, DCC subclass, member 4 IGDCC4 57722 ENSG00000103742 Igdcc4 (MGI:1858497) -chr15 65442466 65517688 15q22 15q22.31 606819 DPP8 Dipeptidyl peptidase 8 DPP8 54878 ENSG00000074603 Dpp8 (MGI:1921638) -chr15 65530462 65578354 15q22.31 15q22.31 615940 PTPLAD1, BIND1, HACD3 Protein tyrosine phosphatase-like A domain-containing protein 1 HACD3 51495 ENSG00000074696 Hacd3 (MGI:1889341) -chr15 65611312 65661001 15q22 15q22.31 603617 SLC24A1, NCKX1, CSNB1D Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 SLC24A1 9187 ENSG00000074621 Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3), Autosomal recessive Slc24a1 (MGI:2384871) -chr15 65655233 65792292 15q22.31 15q22.31 600382 DENND4A DENN/MADD domain containing 4A DENND4A 10260 ENSG00000174485 Dennd4a (MGI:2142979) -chr15 65869490 65891988 15q21.3-q22.31 15q22.31 605570 RAB11A Ras family, member RAB11A RAB11A 8766 ENSG00000103769 Rab11a (MGI:1858202) -chr15 65889716 66253749 15q22.31 15q22.31 612454 MEGF11, KIAA1781 Multiple epidermal growth factor-like domains 11 MEGF11 84465 ENSG00000157890 Megf11 (MGI:1920951) -chr15 66293308 66333897 15q22.31 15q22.31 614183 DIS3L, DIS3L1, KIAA1955 DIS3 like exosome 3'-5' exoribonuclease DIS3L 115752 ENSG00000166938 Dis3l (MGI:2143272) -chr15 66334973 66387272 15q22.3 15q22.31 610716 TIPIN Timeless-interacting protein TIPIN 54962 ENSG00000075131 Tipin (MGI:1921571) -chr15 66386911 66491543 15q21 15q22.31 176872 MAP2K1, PRKMK1, MKK1, MEK1, CFC3, MEL Mitogen-activated protein kinase kinase 1 MAP2K1 5604 ENSG00000169032 pseudogene on 8p21 Cardiofaciocutaneous syndrome 3, 615279 (3), Autosomal dominant; Melorheostosis, isolated, somatic mosaic, 155950 (3) Map2k1 (MGI:1346866) -chr15 66489747 66497761 15q22.31 15q22.31 605979 SNAPC5, SNAP19 Small nuclear RNA-activating protein complex, polypeptide 5 SNAPC5 10302 ENSG00000174446 Snapc5 (MGI:1914282) -chr15 66498014 66504854 15q 15q22.31 180479 RPL4 Ribosomal protein L4 RPL4 6124 ENSG00000174444 Rpl4 (MGI:1915141) -chr15 66505125 66550129 15q22.3 15q22.31 609984 ZWILCH ZWILCH kinetochore protein ZWILCH 55055 ENSG00000174442 Zwilch (MGI:1915264) -chr15 66547531 66565997 15q22.31 15q22.31 617060 LCTL, KLG, KLPH Lactase-like protein LCTL 197021 ENSG00000188501 Lctl (MGI:2183549) -chr15 66702109 66782848 15q21-q22 15q22.31 602931 SMAD6, MADH6, AOVD2 SMAD family member 6 SMAD6 4091 ENSG00000137834 Aortic valve disease 2, 614823 (3), Autosomal dominant; {Radioulnar synostosis, nonsyndromic}, 179300 (3), Autosomal dominant; {Craniosynostosis 7, susceptibility to}, 617439 (3), Autosomal dominant Smad6 (MGI:1336883) -chr15 66900000 67000000 15q22.32 612579 STQTL16 Stature quantitative trait locus 16 100270802 associated with rs8038652 {Stature QTL 16}, 612579 (2) -chr15 67000000 78000000 15q22-q24 611274 GLC1N Glaucoma 1, open angle, N 777645 max lod at D15S125 Glaucoma 1, open angle, N, 611274 (2) -chr15 67000000 72400000 15q22-q23 612632 USH1H Usher syndrome, type 1H 100271837 max lod at D15S980 Usher syndrome, type 1H, 612632 (2) -chr15 67065601 67195194 15q22.3 15q22.33 603109 SMAD3, MADH3, LDS3 SMAD family member 3 SMAD3 4088 ENSG00000166949 Loeys-Dietz syndrome 3, 613795 (3), Autosomal dominant Smad3 (MGI:1201674) -chr15 67200000 101991189 15q23-q26.3 607248 GLM4 Glioma susceptibility 4 338030 max lod at D15S130 {Glioma susceptibility 4}, 607248 (2) -chr15 67200666 67255197 15q22.33-q23 15q23 614888 AAGAB, p34, PPKP1A, PPKP1, KPPP1 Alpha- and gamma-adaptin-binding protein AAGAB 79719 ENSG00000103591 Keratoderma, palmoplantar, punctate type IA, 148600 (3), Autosomal dominant Aagab (MGI:1914189) -chr15 67254785 67501803 15q22.31 15q23 612523 IQCH, NYDSP5 IQ motif-containing protein H IQCH 64799 ENSG00000103599 Iqch (MGI:1925500) -chr15 67542684 67807113 15q23 15q23 602520 MAP2K5, PRKMK5, MEK5, MAPKK5 Mitogen-activated protein kinase kinase 5 MAP2K5 5607 ENSG00000137764 Map2k5 (MGI:1346345) -chr15 67825508 67834581 15q23 15q23 611273 SKOR1, LBXCOR1, CORL1 SKI family transcriptional corepressor 1 SKOR1 390598 ENSG00000188779 Skor1 (MGI:2443473) -chr15 67839939 67840044 15q23 15q23 180692 RNU6-1, RNU6A, RNU6 RNA, U6 small nuclear 1 RNU6-1 26827 ENSG00000206625 -chr15 68054314 68193846 15q22 15q23 603566 PIAS1, DDXBP1, GBP protein inhibitor of activated STAT, 1 PIAS1 8554 ENSG00000033800 Pias1 (MGI:1913125) -chr15 68206991 68229727 15q21-q23 15q23 606725 CLN6, CLN4A CLN6 transmembrane ER protein CLN6 54982 ENSG00000128973 Ceroid lipofuscinosis, neuronal, 6, 601780 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive, 204300 (3), Autosomal recessive Cln6 (MGI:2159324) -chr15 68277744 68295861 15q23 15q23 613539 FEM1B, KIAA0396 Fem-1 homolog B FEM1B 10116 ENSG00000169018 Fem1b (MGI:1335087) -chr15 68296531 68432311 15q23 15q23 604789 ITGA11 Integrin, alpha-11 ITGA11 22801 ENSG00000137809 Itga11 (MGI:2442114) -chr15 68518372 68727805 15q23 15q23 605002 CORO2B, CLIPINC Coronin 2B CORO2B 10391 ENSG00000103647 Coro2b (MGI:2444283) -chr15 68778534 68820894 15q22.3-q23 15q23 600832 ANP32A, PHAP1 Acidic (leucine-rich) nuclear phosphoprotein 32 family, member A ANP32A 8125 ENSG00000140350 Anp32a (MGI:108447) -chr15 68930524 69062761 15q23 15q23 606572 NOX5 NADPH oxidase 5 NOX5 79400 ENSG00000255346 -chr15 68930524 68946810 15q22 15q23 609399 SPESP1 Sperm equatorial segment protein 1 SPESP1 246777 ENSG00000258484 Spesp1 (MGI:1913962) -chr15 69080849 69095823 15q23 15q23 616492 EWSAT1, LINC00277 Ewing sarcoma-associated transcript 1, noncoding EWSAT1 283673 ENSG00000212766 -chr15 69160554 69272208 15q23 15q23 612134 GLCE, HSEPI, KIAA0836 Glucuronic acid epimerase GLCE 26035 ENSG00000138604 Glce (MGI:2136405) -chr15 69284133 69407779 15q23 15q23 607781 PAQR5, MPRG Progestin and ADIPOQ receptor family, member 5 PAQR5 54852 ENSG00000137819 Paqr5 (MGI:1921340) -chr15 69414324 69448426 15q23 15q23 605064 KIF23, KNSL5, MKLP1 Kinesin family member 23 KIF23 9493 ENSG00000137807 Kif23 (MGI:1919069) -chr15 69452817 69456204 Chr.15 15q23 180520 RPLP1 Ribosomal phosphoprotein, Large, P1 RPLP1 6176 ENSG00000137818 Gm10073,Rplp1 (MGI:3641908,MGI:1927099) -chr15 69561719 69571439 15q23 15q23 616387 DRAIC Downregulated RNA in androgen-independent cells, noncoding DRAIC 145837 ENSG00000245750 -chr15 69592199 69695749 15q23 15q23 616273 PCAT29 Prostate cancer-associated transcript 29, noncoding PCAT29 104472713 ENSG00000245750 -chr15 70047789 70098170 15q23 15q23 600190 TLE3, ESG TLE family member 3, transcriptional corepressor TLE3 7090 ENSG00000140332 Tle3 (MGI:104634) -chr15 70654553 70778822 15q24 15q23 612516 UACA, NUCLING Uveal autoantigen with coiled-coil domains and ankyrin repeats UACA 55075 ENSG00000137831 Uaca (MGI:1919815) -chr15 70829129 70854156 15q23 15q23 611300 LARP6, ACHN La ribonucleoprotein 6, translational regulator LARP6 55323 ENSG00000166173 Larp6 (MGI:1914807) -chr15 70881341 70892432 15q23 15q23 612538 THAP10 THAP domain-containing protein 10 THAP10 56906 ENSG00000129028 -chr15 71096893 71783382 15q23 15q23 614476 THSD4, ADAMTSL6 Thrombospondin type-1 domain-containing 4 THSD4 79875 ENSG00000187720 Thsd4 (MGI:2672033) -chr15 71810553 71818252 15q23 15q23 604485 NR2E3, PNR, ESCS, RP37 Nuclear receptor subfamily 2, group E, member 3 NR2E3 10002 ENSG00000278570 near BBS4 Retinitis pigmentosa 37, 611131 (3), Autosomal dominant, Autosomal recessive; Enhanced S-cone syndrome, 268100 (3), Autosomal recessive Nr2e3 (MGI:1346317) -chr15 71822290 72118576 15q22-q23 15q23 604875 MYO9A, CMS24 Myosin IXa MYO9A 4649 ENSG00000066933 Myasthenic syndrome, congenital, 24, presynaptic, 618198 (3), Autosomal recessive Myo9a (MGI:107735) -chr15 72114257 72143691 15q23 15q23 608659 SENP8, NEDP1, DEN1 Sentrin-specific protease family, member 8 SENP8 123228 ENSG00000166192 Senp8 (MGI:1918849) -chr15 72199028 72231388 15q22 15q23 179050 PKM, PKM2, PK3, THBP1 Pyruvate kinase, muscle PKM 5315 ENSG00000067225 Pkm (MGI:97591) -chr15 72241180 72272553 15q23 15q23 619439 PARP6 Poly(ADP-ribose) polymerase family, member 6 PARP6 56965 ENSG00000137817 Parp6 (MGI:1914537) -chr15 72284726 72320156 15q24 15q23 612681 CELF6, BRUNOL6 CUGbp- and ELAV-like family, member 6 CELF6 60677 ENSG00000140488 Celf6 (MGI:1923433) -chr15 72340923 72376013 15q23-q24 15q23 606869 HEXA, TSD Hexosaminidase A, alpha polypeptide HEXA 3073 ENSG00000213614 on 15q+ in APL [Hex A pseudodeficiency], 272800 (3), Autosomal recessive; GM2-gangliosidosis, several forms, 272800 (3), Autosomal recessive; Tay-Sachs disease, 272800 (3), Autosomal recessive Hexa (MGI:96073) -chr15 72474329 72602986 15q24 15q24.1 605624 ARIH1, ARI, UBCH7BP Ariadne, Drosophila, homolog of, 1 ARIH1 25820 ENSG00000166233 Arih1 (MGI:1344363) -chr15 72686203 72738475 15q22.3-q23 15q24.1 600374 BBS4 BBS4 gene BBS4 585 ENSG00000140463 Bardet-Biedl syndrome 4, 615982 (3), Autosomal recessive Bbs4 (MGI:2143311) -chr15 72751293 72783775 15q24.1 15q24.1 611861 ADPGK ADP-dependent glucokinase ADPGK 83440 ENSG00000159322 Adpgk (MGI:1919391) -chr15 73051714 73305205 15q22.3-q23 15q24.1 601907 NEO1, NGN Neogenin, chicken, homolog of, 1 NEO1 4756 ENSG00000067141 Neo1 (MGI:1097159) -chr15 73319858 73368957 15q24-q25 15q24.1 605206 HCN4, SSS2 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 4 HCN4 10021 ENSG00000138622 Sick sinus syndrome 2, 163800 (3), Autosomal dominant; Brugada syndrome 8, 613123 (3) Hcn4 (MGI:1298209) -chr15 73443163 73560012 15q24.1 15q24.1 618421 REC114, OOMD10 Rec114 meiotic recombination protein REC114 283677 ENSG00000183324 Oocyte maturation defect 10, 619176 (3), Autosomal recessive Rec114 (MGI:1920923) -chr15 73560013 73633388 15q24.1 15q24.1 612820 NPTN, SDFR1, GP55, NP55, GP65, NP65 Neuroplastin NPTN 27020 ENSG00000156642 Nptn (MGI:108077) -chr15 73566937 73569542 15q24.1 15q24.1 615176 NPTNIT1 NPTN intronic transcript 1, noncoding NPTN-IT1 101241892 ENSG00000281183 -chr15 73683965 73714517 15q23-q24 15q24.1 605715 CD276, B7H3 CD276 molecule CD276 80381 ENSG00000103855 Cd276 (MGI:2183926) -chr15 73735457 73753350 15q24.1 15q24.1 617128 C15orf59, INSYN1 Chromosome 15 open reading frame 59 INSYN1 388135 ENSG00000205363 Insyn1 (MGI:2442108) -chr15 73917467 73928247 15q24.1 15q24.1 616800 LOXL1AS1 LOXL1 antisense RNA 1 LOXL1-AS1 100287616 ENSG00000261801 -chr15 73926461 73952136 15q24.1 15q24.1 153456 LOXL1, LOXL Lysyl oxidase-like 1 LOXL1 4016 ENSG00000129038 {Exfoliation syndrome, susceptibility to}, 177650 (3), Autosomal dominant Loxl1 (MGI:106096) -chr15 73978925 73994635 15q22 15q24.1 608326 STOML1, STORP Stomatin-like protein 1 STOML1 9399 ENSG00000067221 Stoml1 (MGI:1916356) -chr15 73994715 74047826 15q22 15q24.1 102578 PML, MYL Promyelocytic leukemia, inducer of PML 5371 ENSG00000140464 fused with RARA in APL Leukemia, acute promyelocytic, PML/RARA type (3) Pml (MGI:104662) -chr15 74069856 74082549 15q22 15q24.1 610288 GOLGA6, GLP Golgin A6 GOLGA6A 342096 ENSG00000159289 Golga2 (MGI:2139395) -chr15 74100313 74141825 15q24.1 15q24.1 614179 ISLR2, LINX, KIAA1464 Immunoglobulin superfamily containing leucine-rich repeat 2 ISLR2 57611 ENSG00000167178 Islr2 (MGI:2444277) -chr15 74173709 74176870 15q23-q24 15q24.1 602059 ISLR Immunoglobulin superfamily containing leucine-rich repeat ISLR 3671 ENSG00000129009 Islr (MGI:1349645) -chr15 74179465 74212266 15q24.1 15q24.1 610745 STRA6, MCOPS9, MCOPCB8 Stimulated by retinoic acid 6, mouse, homolog of STRA6 64220 ENSG00000137868 Microphthalmia, syndromic 9, 601186 (3), Autosomal recessive; Microphthalmia, isolated, with coloboma 8, 601186 (3), Autosomal recessive Stra6 (MGI:107742) -chr15 74216639 74336471 15q24.1 15q24.1 618525 CCDC33, CT61 Coiled-coil domain containing protein 33 CCDC33 80125 ENSG00000140481 Ccdc33 (MGI:1922464) -chr15 74337761 74367645 15q24.1 15q24.1 118485 CYP11A1, P450SCC Cytochrome P450, subfamily XIA, polypeptide 1 (cholesterol side chain cleavage enzyme) CYP11A1 1583 ENSG00000140459 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) Cyp11a1 (MGI:88582) -chr15 74409288 74433957 15q24.1 15q24.1 607961 SEMA7A, SEMAL, SEMAK1, CDW108, JMH Semaphorin 7A SEMA7A 8482 ENSG00000138623 [Blood group, John-Milton-Hagen system], 614745 (3) Sema7a (MGI:1306826) -chr15 74445976 74461187 15q22.3-q23 15q24.1 609748 UBL7 Ubiquitin-like 7 UBL7 84993 ENSG00000138629 Ubl7 (MGI:1916709) -chr15 74541219 74598130 15q24 15q24.1 612457 ARID3B, DRIL2, BDP AT-rich interactive domain-containing protein 3B ARID3B 10620 ENSG00000179361 Arid3b (MGI:1930768) -chr15 74608371 74630200 15q24 15q24.1 602990 CLK3 CDC-like kinase 3 CLK3 1198 ENSG00000179335 Clk3 (MGI:1098670) -chr15 74630557 74696433 15q24.1 15q24.1 609842 EDC3, YJDC, MRT50 Enhancer of mRNA decapping 3 EDC3 80153 ENSG00000179151 mutation identified in 1 MRT50 family ?Mental retardation, autosomal recessive 50, 616460 (3), Autosomal recessive Edc3 (MGI:2142951) -chr15 74719541 74725527 15q24.1 15q24.1 108330 CYP1A1, CYP1 Cytochrome P450, subfamily I, aromatic compound-inducible, polypeptide 1 CYP1A1 1543 ENSG00000140465 head-to-head with CYP1A2 Cyp1a1 (MGI:88588) -chr15 74748844 74756606 15q24.1 15q24.1 124060 CYP1A2 Cytochrome P450, subfamily I, aromatic compound-inducible, polypeptide 2 CYP1A2 1544 ENSG00000140505 23.3kb from CYP1A1 Cyp1a2 (MGI:88589) -chr15 74782079 74803196 15q23-q25 15q24.1 124095 CSK c-src tyrosine kinase CSK 1445 ENSG00000103653 Csk (MGI:88537) -chr15 74812834 74825753 15q24.1 15q24.1 609548 LMAN1L, ERGL LMAN1-like protein LMAN1L 79748 ENSG00000140506 Lman1l (MGI:2667537) -chr15 74826626 74831801 15q24.1 15q24.1 609585 CPLX3 Complexin 3 CPLX3 594855 ENSG00000213578 Cplx3 (MGI:2384571) -chr15 74836117 74843165 15q24.1 15q24.1 613472 ULK3 UNC51-like kinase 3 ULK3 25989 ENSG00000140474 Ulk3 (MGI:1918992) -chr15 74843729 74873364 Chr.15 15q24.1 606912 SCAMP2 Secretory carrier membrane protein 2 SCAMP2 10066 ENSG00000140497 Scamp2 (MGI:1346518) -chr15 74890041 74902218 15q22-qter 15q24.1-q24.2 154550 MPI, PMI1, CDG1B Mannosephosphate isomerase (phosphomannose isomerase 1) MPI 4351 ENSG00000178802 Congenital disorder of glycosylation, type Ib, 602579 (3), Autosomal recessive Mpi (MGI:97075) -chr15 74919790 74938072 15q25 15q24.2 603773 COX5A, MC4DN20 Cytochrome C oxidase, subunit Va COX5A 9377 ENSG00000178741 pseudogene on 14q22; mutation identified in 1 MC4DN20 family ?Mitochondrial complex IV deficiency, nuclear type 20, 619064 (3), Autosomal recessive Cox5a (MGI:88474) -chr15 74954417 74956771 15q24.2 15q24.2 619235 RPP25 Ribonuclease P/MRP, 25kD subunit RPP25 54913 ENSG00000178718 Rpp25 (MGI:2143151) -chr15 74995561 75021494 15q23 15q24.2 613766 SCAMP5 Secretory carrier membrane protein 5 SCAMP5 192683 ENSG00000198794 Scamp5 (MGI:1928948) -chr15 75023543 75060179 15q24.2 15q24.2 609854 PPCDC Phosphopantothenoylcysteine decarboxylase PPCDC 60490 ENSG00000138621 Ppcdc (MGI:1914062) -chr15 75336034 75343226 15q24.2 15q24.2 616701 COMMD4 COMM domain-containing protein 4 COMMD4 54939 ENSG00000140365 Commd4 (MGI:1913449) -chr15 75346637 75357114 15q24.2 15q24.2 608844 NEIL1, NEI1, FPG1 Endonuclease VIII-like 1 NEIL1 79661 ENSG00000140398 Neil1 (MGI:1920024) -chr15 75355791 75368606 15q11-q13 15q24.2 154580 MAN2C1, MANA Mannosidase, alpha, class 2C, member 1 MAN2C1 4123 ENSG00000140400 Man2c1 (MGI:1920994) -chr15 75369378 75455818 15q24 15q24.2 607776 SIN3A, WITKOS Sin3, yeast, homolog of, A SIN3A 25942 ENSG00000169375 Witteveen-Kolk syndrome, 613406 (3), Autosomal dominant Sin3a (MGI:107157) -chr15 75463250 75579314 15q24.2 15q24.2 600768 PTPN9 Protein-tyrosine phosphatase, nonreceptor-type, 9 PTPN9 5780 ENSG00000169410 Ptpn9 (MGI:1928376) -chr15 75598085 75626460 15q24.2 15q24.2 607902 SNUPN, RNUT1 Snurportin 1 SNUPN 10073 ENSG00000169371 Snupn (MGI:1913319) -chr15 75639092 75640223 15q24 15q24.2 612980 IMP3, MRPS4, BRMS2 Imp3, S. cerevisiae, homolog of IMP3 55272 ENSG00000177971 Imp3 (MGI:1916119) -chr15 75647911 75662300 15q24.2 15q24.2 619107 SNX33 Sorting nexin 33 SNX33 257364 ENSG00000173548 Snx33 (MGI:2443239) -chr15 75674321 75712847 15q24.2 15q24.2 601172 CSPG4, MCSPG, MSK16, NG2 Chondroitin sulfate proteoglycan CSPG4 1464 ENSG00000173546 Cspg4 (MGI:2153093) -chr15 75843342 75901077 15q23 15q24.2 612501 UBE2Q2, LOC92912 Ubiquitin-conjugating enzyme E2Q 2 UBE2Q2 92912 ENSG00000140367 Ube2q2,E330021D16Rik (MGI:2141773,MGI:2388672) -chr15 75903877 75942510 15q23 15q24.2 609096 FBXO22, FBX22 F-box only protein 22 FBXO22 26263 ENSG00000167196 Fbxo22 (MGI:1926014) -chr15 75933218 76069829 15q24.1 15q24.2 610894 NRG4, HRG4 Neuregulin 4 NRG4 145957 ENSG00000169752 Nrg4 (MGI:1933833) -chr15 76059912 76204962 15q24.2 15q24.2 618691 TMEM266, HVRP1, C15orf27 Transmembrane protein 266 TMEM266 123591 ENSG00000169758 Tmem266 (MGI:2142980) -chr15 76215352 76311468 15q23-q25 15q24.2-q24.3 608053 ETFA, GA2, MADD Electron transfer flavoprotein, alpha polypeptide ETFA 2108 ENSG00000140374 Glutaric acidemia IIA, 231680 (3), Autosomal recessive Etfa (MGI:106092) -chr15 76300000 88500000 15q24-q25 612274 CILD8 Ciliary dyskinesia, primary, 8 100190786 max lod at D15S154 Ciliary dyskinesia, primary, 8, 612274 (2), Autosomal recessive -chr15 76300000 78000000 15q24 603204 ENFL2 Epilepsy, nocturnal frontal lobe, type 2 50971 some ENFL not on 20q or 15q Epilepsy, nocturnal frontal lobe, type 2, 603204 (2), Autosomal dominant -chr15 76300000 78000000 15q24 602685 MRST Mental retardation, severe, with spasticity and tapetoretinal degeneration 8126 Mental retardation, severe, with spasticity and tapetoretinal degeneration, 602685 (2) -chr15 76336772 76342474 15q24.3 15q24.3 609481 ISL2 ISL2 transcription factor, LIM/homeodomain ISL2 64843 ENSG00000159556 Isl2 (MGI:109156) -chr15 76347903 76905454 15q24 15q24.3 611611 SCAPER, KIAA1454, IDDRP S-phase cyclin A-associated protein in the endoplasmic reticulum SCAPER 49855 ENSG00000140386 Intellectual developmental disorder and retinitis pigmentosa, 618195 (3), Autosomal recessive Scaper (MGI:1925976) -chr15 76931748 76954392 15q23 15q24.3 602584 RCN2, ERC55 Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD) RCN2 5955 ENSG00000117906 Rcn2 (MGI:1349765) -chr15 76994679 77037474 15q24-q25.1 15q24.3 606347 PSTPIP1, PSTPIP, CD2BP1, PAPAS Proline-serine-threonine phosphatase-interacting protein 1 PSTPIP1 9051 ENSG00000140368 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3), Autosomal dominant Pstpip1 (MGI:1321396) -chr15 77041403 77071108 15q24.3 15q24.3 613134 TSPAN3 Tetraspanin 3 TSPAN3 10099 ENSG00000140391 Tspan3 (MGI:1928098) -chr15 77100828 77420698 15q24.3 15q24.3 614248 PEAK1, KIAA2002 Pseudopodium-enriched atypical kinase 1 PEAK1 79834 ENSG00000173517 Peak1 (MGI:2442366) -chr15 77420704 77519898 15q24 15q24.3 605534 HMG20A High mobility group protein 20A HMG20A 10363 ENSG00000140382 Hmg20a (MGI:1914117) -chr15 77613023 77820899 15q24 15q24.3 609791 LINGO1, LRRN6A, LERN1, MRT64 Leucine-rich repeat- and Ig domain-containing NOGO receptor-interacting protein 1 LINGO1 84894 ENSG00000169783 Mental retardation, autosomal recessive 64, 618103 (3), Autosomal recessive Lingo1 (MGI:1915522) -chr15 77994984 78077710 15q24.3-q25.1 15q24.3-q25.1 619152 TBC1D2B, KIAA1055, NEDSGO TBC1 domain family, member 2B TBC1D2B 23102 ENSG00000167202 Neurodevelopmental disorder with seizures and gingival overgrowth, 619323 (3), Autosomal recessive Tbc1d2b (MGI:1914266) -chr15 78000000 93800000 15q25.1-q26.1 607728 POROK4, DSAP2 Porokeratosis 4, disseminated superficial actinic 353147 between D15S1023 and D15S1030 Porokeratosis 4, disseminated superficial actinic, 607728 (2) -chr15 78104605 78131975 15q24 15q25.1 605564 CIB2, KIP2 Calcium- and integrin-binding protein 2 CIB2 10518 ENSG00000136425 Deafness, autosomal recessive 48, 609439 (3), Autosomal recessive; Usher syndrome, type IJ, 614869 (3), Autosomal recessive Cib2 (MGI:1929293) -chr15 78149361 78171944 15q25.1-q25.2 15q25.1 601149 IDH3A, RP90 Isocitrate dehydrogenase 3 (NAD+) alpha IDH3A 3419 ENSG00000166411 Retinitis pigmentosa 90, 619007 (3), Autosomal recessive Idh3a (MGI:1915084) -chr15 78167467 78234624 12q23-q24 15q25.1 614362 ACSBG1, BG, BG1, KIAA0631 Acyl-CoA synthetase, bubble gum family, member 1 ACSBG1 23205 ENSG00000103740 Acsbg1 (MGI:2385656) -chr15 78283232 78299702 15q25.1 15q25.1 609540 WDR61, SKI8 WD repeat-containing protein 61 WDR61 80349 ENSG00000140395 Wdr61 (MGI:1917493) -chr15 78340352 78348224 15q24 15q25.1 180230 CRABP1, RBP5 Cellular retinoic acid-binding protein-1 CRABP1 1381 ENSG00000166426 distal to APL breakpoint Crabp1 (MGI:88490) -chr15 78437430 78501452 15q25.1 15q25.1 147582 IREB2, NDCAMA Iron-responsive element-binding protein-2 IREB2 3658 ENSG00000136381 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, 618451 (3), Autosomal recessive Ireb2 (MGI:1928268) -chr15 78507576 78537372 15q25.1 15q25.1 614681 AGPHD1 Aminoglycoside phosphotransferase domain-containing protein 1 HYKK 123688 ENSG00000188266 Hykk (MGI:2443139) -chr15 78540404 78552416 15q25.1 15q25.1 176846 PSMA4, PSC9, HC9 Proteasome subunit, alpha-type, 4 PSMA4 5685 ENSG00000041357 Psma4 (MGI:1347060) -chr15 78565519 78595268 15q25.1 15q25.1 118505 CHRNA5, LNCR2 Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5 CHRNA5 1138 ENSG00000169684 {Nicotine dependence, susceptibility to}, 612052 (3); {Lung cancer susceptibility 2}, 612052 (3) Chrna5 (MGI:87889) -chr15 78593051 78620995 15q25.1 15q25.1 118503 CHRNA3, LNCR2, PAOD2, BAIPRCK Cholinergic receptor, neuronal nicotinic, alpha polypeptide-3 CHRNA3 1136 ENSG00000080644 {Lung cancer susceptibility 2}, 612052 (3); Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 (3), Autosomal recessive Chrna3 (MGI:87887) -chr15 78623281 78655585 15q24 15q25.1 118509 CHRNB4 Cholinergic receptor, neuronal nicotinic, beta polypeptide-4 CHRNB4 1143 ENSG00000117971 Chrnb4 (MGI:87892) -chr15 78759202 78811475 15q25.1 15q25.1 605009 ADAMTS7 ADAM metallopeptidase domain with thrombospondin type 1 motif, 7 ADAMTS7 11173 ENSG00000136378 Adamts7 (MGI:1347346) -chr15 78872889 78898138 15q24 15q25.1 607303 MORF4L1, MRG15 Mortality factor 4-like 1 MORF4L1 10933 ENSG00000185787 Morf4l1,Morf4l1-ps1 (MGI:3612158,MGI:1096551) -chr15 78921057 78945088 15q24-q25 15q25.1 116820 CTSH Cathepsin H CTSH 1512 ENSG00000103811 Ctsh (MGI:107285) -chr15 78959905 79090779 15q25.1 15q25.1 606600 RASGRF1, GRF55 Ras protein-specific guanine nucleotide-releasing factor 1 RASGRF1 5923 ENSG00000058335 Rasgrf1 (MGI:99694) -chr15 79209787 79209870 15q25.1 15q25.1 613146 MIR184, MIRN184, KTCNCT, EDICT Micro RNA 184 MIR184 406960 ENSG00000207695 EDICT syndrome, 614303 (3), Autosomal dominant Mir184 (MGI:2676848) -chr15 79411556 79472303 15q25.1 15q25.1 618054 KIAA1024, MINAR1 Major intrinsically disordered NOTCH2-binding receptor 1 MINAR1 23251 ENSG00000169330 Minar1 (MGI:2667167) -chr15 79843546 79897284 15q25.1 15q25.1 604197 MTHFS, NEDMEHM 5,10-methenyltetrahydrofolate synthetase MTHFS 10588 ENSG00000136371 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 (3), Autosomal recessive Mthfs (MGI:1340032) -chr15 79960891 79971195 15q24.3 15q25.1 601056 BCL2A1 BCL2-related protein A1 BCL2A1 597 ENSG00000140379 Bcl2a1d,Bcl2a1c,Bcl2a1b,Bcl2a1a (MGI:102687,MGI:1278325,MGI:1278326,MGI:1278327) -chr15 80059675 80138392 15q25.1 15q25.1 610183 ZFAND6, ZA20D3, AWP1 Zinc finger AN1 domain-containing protein 6 ZFAND6 54469 ENSG00000086666 Zfand6 (MGI:1929510) -chr15 80152788 80186948 15q23-q25 15q25.1 613871 FAH Fumarylacetoacetase FAH 2184 ENSG00000103876 Tyrosinemia, type I, 276700 (3), Autosomal recessive Fah (MGI:95482) -chr15 80404381 80597932 15q24 15q25.1 606036 ARNT2, WEDAS Aryl hydrocarbon receptor nuclear translocator 2 ARNT2 9915 ENSG00000172379 mutation identified in 1 WEDAS family ?Webb-Dattani syndrome, 615926 (3), Autosomal recessive Arnt2 (MGI:107188) -chr15 80695309 80755620 15q25.1 15q25.1 617944 ABHD17C, FAM108C1 Abhydrolase domain-containing protein 17C, depalmitoylase ABHD17C 58489 ENSG00000136379 Abhd17c (MGI:1917428) -chr15 80779369 80951770 15q24 15q25.1 608366 CEMIP, KIAA1199 Cell migration-inducing hyaluronidase 1 CEMIP 57214 ENSG00000103888 Cemip (MGI:2443629) -chr15 80946288 80989818 15q25.1 15q25.1 607783 MESD, MESDC2, BOCA, KIAA0081, OI20 Mesoderm development LRP chaperone MESD 23184 ENSG00000117899 Osteogenesis imperfecta, type XX, 618644 (3), Autosomal recessive Mesd (MGI:1891421) -chr15 81000922 81005787 15q25.1 15q25.1 615466 TLNRD1, MESDC1 Talin rod domain containing 1 TLNRD1 59274 ENSG00000140406 Tlnrd1 (MGI:1891420) -chr15 81196878 81314057 15q26.1 15q25.1 603035 IL16, LCF Interleukin 16 IL16 3603 ENSG00000172349 Il16 (MGI:1270855) -chr15 81309052 81324140 15q26 15q25.1 607050 STARD5 Start domain-containing protein 5 STARD5 80765 ENSG00000172345 Stard5 (MGI:2156765) -chr15 81331087 81374212 15q25.1 15q25.1 617196 TMC3 Transmembrane channel-like protein 3 TMC3 342125 ENSG00000188869 Tmc3 (MGI:2669033) -chr15 82041777 82046017 15q25.2 15q25.2 611008 MEX3B, RKHD3 Mex-3, C. elegans, homolog of, B MEX3B 84206 ENSG00000183496 Mex3b (MGI:1918252) -chr15 82130222 82262733 15q25.2 15q25.2 617538 EFL1, RIA1, EFTUD1, FAM42A, SDS2 Elongation factor-like GTPase 1 EFL1 79631 ENSG00000140598 Shwachman-Diamond syndrome 2, 617941 (3), Autosomal recessive Efl1 (MGI:2141969) -chr15 82536749 82540456 15q 15q25.2 180472 RPS17, RPS17L1, RPS17L2, DBA4 Ribosomal protein S17 RPS17 6218 ENSG00000182774 previously on chr.11; pseudogenes on 5q33-qter and 17q Diamond-Blackfan anemia 4, 612527 (3), Autosomal dominant Rps17 (MGI:1309526) -chr15 82543200 82648794 15q25.2 15q25.2 607342 CPEB1 Cytoplasmic polyadenylation element-binding protein 1 CPEB1 64506 ENSG00000214575 Cpeb1 (MGI:108442) -chr15 82659280 82709874 15q25.2 15q25.2 602166 AP3B2, NAPTB, DEE48 Adaptor-related protein complex 3, beta 2 subunit AP3B2 8120 ENSG00000103723 Developmental and epileptic encephalopathy 48, 617276 (3), Autosomal recessive Ap3b2 (MGI:1100869) -chr15 82755944 82756070 15q25.2 15q25.2 612675 SCARNA15, ACA45 Small cajal body-specific RNA 15 SCARNA15 677778 ENSG00000277864 -chr15 82809627 82836107 15q25.2 15q25.2 612393 WHAMM, KIAA1971 Was protein homolog associated with actin, golgi membranes, and microtubules WHAMM 123720 ENSG00000156232 Whamm (MGI:2142282) -chr15 82836945 82986175 15q24.3 15q25.2 604799 HOMER2, HOMER2B, HOMER2A, DFNA68 Homer scaffold protein 2 HOMER2 9455 ENSG00000103942 mutation identified in 1 DFNA68 family ?Deafness, autosomal dominant 68, 616707 (3), Autosomal dominant Homer2 (MGI:1347354) -chr15 82986209 82991056 15q25.2 15q25.2 614547 FAM103A1, RAM Family with sequence similarity 103, member A1 RAMAC 83640 ENSG00000169612 Gm10767,Gm9830,Ramac (MGI:3704332,MGI:1914398,MGI:3642136) -chr15 83107586 83145402 15q24-q26 15q25.2 606562 TM6SF1 Transmembrane 6 superfamily, member 1 TM6SF1 53346 ENSG00000136404 Tm6sf1 (MGI:1933209) -chr15 83112737 83207822 15q25 15q25.2 616643 HRP3, HDGFRP3 Hepatoma-derived growth factor-related protein 3 HDGFL3 50810 ENSG00000166503 Hdgfl3 (MGI:1352760) -chr15 83255883 83284663 15q25.1 15q25.2 601930 BNC1, POF16 Basonuclin BNC1 646 ENSG00000169594 mutation identified in 1 POF16 family ?Premature ovarian failure 16, 618723 (3), Autosomal dominant Bnc1 (MGI:1097164) -chr15 83447122 83618742 15q24 15q25.2 603362 SH3GL3 SH3-domain GRB2-like 3 SH3GL3 6457 ENSG00000140600 Sh3gl3 (MGI:700011) -chr15 83654094 84039841 15q25.2 15q25.2 609199 ADAMTSL3, KIAA1233 ADAMTS-like protein 3 ADAMTSL3 57188 ENSG00000156218 Adamtsl3 (MGI:3028499) -chr15 84631459 84642462 15q25.2 15q25.2 610417 SCAND2 SCAN domain-containing 2 SCAND2P 54581 -chr15 84639284 84654289 15q25.2 15q25.2 616144 WDR73, HSPC264, GAMOS1 WD repeat-containing protein 73 WDR73 84942 ENSG00000177082 Galloway-Mowat syndrome 1, 251300 (3), Autosomal recessive Wdr73 (MGI:1919218) -chr15 84655131 84658610 15q22-qter 15q25.2 162340 NMB Neuromedin B NMB 4828 ENSG00000197696 Nmb (MGI:1915289) -chr15 84669543 84716138 15q25.2-q25.3 15q25.2-q25.3 618258 SEC11A, SPC18 SEC11 homolog A, signal peptidase complex subunit SEC11A 23478 ENSG00000140612 Sec11a (MGI:1929464) -chr15 84700000 93800000 15q25.3-q26.1 609893 CHNG3, RTSH Hypothyroidism, congenital, nongoitrous, 3 780915 max lod at D15S655 Hypothyroidism, congenital, nongoitrous, 3, 609893 (2) -chr15 84700000 88500000 15q25 614294 DEL15q25, C15DELq25 Chromosome 15q25 deletion syndrome chr15:82,889,423-83,552,890, NCBI36 Chromosome 15q25 deletion syndrome, 614294 (4), Autosomal dominant -chr15 84700000 101991189 15q25-q26 606451 DFNA30 Deafness, autosomal dominant 30 23719 Deafness, autosomal dominant 30, 606451 (2), Autosomal dominant -chr15 84700000 98000000 15q25.3-q26.2 608691 MDD2 Major depressive disorder 2 431709 Major depressive disorder 2, 608516 (2) -chr15 84748555 84806444 15q25.3 15q25.3 613624 ZNF592, KIAA0211 Zinc finger protein 592 ZNF592 9640 ENSG00000166716 Zfp592 (MGI:2443541) -chr15 84817355 84873478 15q25.2 15q25.3 617608 ALPK3, MIDORI, KIAA1330, CMH27 Alpha kinase 3 ALPK3 57538 ENSG00000136383 Cardiomyopathy, familial hypertrophic 27, 618052 (3), Autosomal recessive Alpk3 (MGI:2151224) -chr15 84884349 84975648 15q25-q26 15q25.3 606207 SLC28A1, CNT1, URCTU Solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 SLC28A1 9154 ENSG00000156222 [Uridine-cytidineuria], 618477 (3), Autosomal recessive Slc28a1 (MGI:3605073) -chr15 84980466 85139141 15q25.3-q26.1 15q25.3 602972 PDE8A Phosphodiesterase 8A PDE8A 5151 ENSG00000073417 Pde8a (MGI:1277116) -chr15 85380602 85749357 15q24-q25 15q25.3 604686 AKAP13, HT31, LBC, BRX A-kinase anchor protein 13 AKAP13 11214 ENSG00000170776 Akap13 (MGI:2676556) -chr15 86079619 87031475 15q25.3 15q25.3 615496 AGBL1, CCP4, FECD8 ATP/GTP-binding protein-like 1 AGBL1 123624 ENSG00000273540 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3), Autosomal dominant Agbl1 (MGI:3646469) -chr15 87859748 88256795 15q25 15q25.3 191316 NTRK3, TRKC Neurotrophic tyrosine kinase, receptor, type 3 NTRK3 4916 ENSG00000140538 Ntrk3 (MGI:97385) -chr15 88459477 88467387 15q24-q25 15q25.3 611851 MRPL46 Mitochondrial ribosomal protein L46 MRPL46 26589 ENSG00000259494 Mrpl46 (MGI:1914558) -chr15 88467707 88480775 15q25 15q25.3 611977 MRPS11 Mitochondrial ribosomal protein S11 MRPS11 64963 ENSG00000181991 Mrps11 (MGI:1915244) -chr15 88500000 93800000 15q26.1 142340 DIH1, HCD Hernia, congenital diaphragmatic 1 1732 Hernia, congenital diaphragmatic 1, 142340 (2), Multifactorial -chr15 88500000 101991189 15q26.1-qter 166800 OTSC1, OTS Otosclerosis 1 5012 Otosclerosis 1, 166800 (2), Autosomal dominant -chr15 88501918 88546702 15q25.3 15q26.1 608727 DET1 DET1 partner of COP1 E2 ubiquitin ligase DET1 55070 ENSG00000140543 Det1 (MGI:1923625) -chr15 88604600 88632280 15q26.1 15q26.1 610177 ISG20L1, AEN Interferon-stimulated exonuclease gene 20kD-like 1 AEN 64782 ENSG00000181026 Aen (MGI:1915298) -chr15 88635613 88656482 15q26 15q26.1 604533 ISG20, HEM45 Interferon-stimulated exonuclease gene 20 ISG20 3669 ENSG00000172183 Isg20 (MGI:1928895) -chr15 88803435 88875352 15q26.1 15q26.1 155760 ACAN, AGC1, CSPG1, MSK16, SEDK, SSOAOD Aggrecan (chondroitin sulfate proteoglycan-1, large aggregating proteoglycan, antigen identifies by monoclonal antibody A0122) ACAN 176 ENSG00000157766 mutation identified in 1 SEDK family ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3), Autosomal dominant; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3), Autosomal dominant; Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3), Autosomal recessive Acan (MGI:99602) -chr15 88898682 88913404 15q25 15q26.1 602281 MFGE8 Milk fat globule-EGF factor 8 MFGE8 4240 ENSG00000140545 Mfge8 (MGI:102768) -chr15 89088421 89202354 15q26.1 15q26.1 612196 ABHD2, LABH2 Abhydrolase domain-containing 2, acylglycerol lipase ABHD2 11057 ENSG00000140526 Abhd2 (MGI:1914344) -chr15 89209868 89223178 15q26 15q26.1 180090 RLBP1 Retinaldehyde-binding protein-1, cellular RLBP1 6017 ENSG00000140522 Bothnia retinal dystrophy, 607475 (3), Autosomal recessive; Newfoundland rod-cone dystrophy, 607476 (3); Retinitis punctata albescens, 136880 (3), Autosomal dominant, Autosomal recessive; Fundus albipunctatus, 136880 (3), Autosomal dominant, Autosomal recessive Rlbp1 (MGI:97930) -chr15 89243972 89317258 15q25-q26 15q26.1 611360 FANCI, KIAA1794 FANCI gene FANCI 55215 ENSG00000140525 Fanconi anemia, complementation group I, 609053 (3), Autosomal recessive Fanci (MGI:2384790) -chr15 89316319 89334823 15q25 15q26.1 174763 POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS Polymerase (DNA directed), gamma POLG 5428 ENSG00000140521 PEO also digenic with C10orf2 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3), Autosomal recessive; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3), Autosomal dominant; Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3), Autosomal recessive Polg (MGI:1196389) -chr15 89368016 89368105 15q26.1 15q26.1 611188 MIR9-3, MIRN9-3 Micro RNA 9-3 MIR9-3 407051 ENSG00000284329 Mir9-3 (MGI:3619443) -chr15 89471406 89496582 15q25 15q26.1 605381 RHCG, RHGK Rhesus blood group-associated kidney homolog RHCG 51458 ENSG00000140519 Rhcg (MGI:1888517) -chr15 89575468 89628022 15q26.1 15q26.1 613298 C15orf42, TRESLIN Treslin TICRR 90381 ENSG00000140534 Ticrr (MGI:1924261) -chr15 89627976 89663085 15q26.1 15q26.1 611254 KIF7, HLS2, ACLS, JBTS12, AGBK Kinesin family member 7 KIF7 374654 ENSG00000166813 mutation identified in 1 HLS2 family and 1 AGBK family Joubert syndrome 12, 200990 (3), Autosomal recessive; Acrocallosal syndrome, 200990 (3), Autosomal recessive; ?Hydrolethalus syndrome 2, 614120 (3), Autosomal recessive; ?Al-Gazali-Bakalinova syndrome, 607131 (3), Autosomal recessive Kif7 (MGI:1098239) -chr15 89664364 89679366 15q26 15q26.1 170290 PLIN1, PLIN, FPLD4 Perilipin 1 PLIN1 5346 ENSG00000166819 Lipodystrophy, familial partial, type 4, 613877 (3), Autosomal dominant Plin1 (MGI:1890505) -chr15 89681534 89690753 15q26.1 15q26.1 603866 PEX11A Peroxisome biogenesis factor 11A PEX11A 8800 ENSG00000166821 Pex11a (MGI:1338788) -chr15 89734771 89751248 15q26.1 15q26.1 608689 MESP1 Mesoderm posterior bHLH transcription factor 1 MESP1 55897 ENSG00000166823 Mesp1 (MGI:107785) -chr15 89776331 89778753 15q26.1 15q26.1 605195 MESP2, SCDO2 Mesoderm posterior bHLH transcription factor 2 MESP2 145873 ENSG00000188095 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3), Autosomal recessive Mesp2 (MGI:1096325) -chr15 89784894 89814851 15q25-q26 15q26.1 151530 ANPEP, PEPN, CD13 Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150) ANPEP 290 ENSG00000166825 Anpep (MGI:5000466) -chr15 89830598 89893993 15q26.1 15q26.1 602416 AP3S2 Adaptor-related protein complex 3, sigma-2 subunit AP3S2 10239 ENSG00000157823 Ap3s2 (MGI:1337060) -chr15 89895005 89912951 15q26.1 15q26.1 615543 C15orf38, ARPIN Chromosome 15 open reading frame 38 ARPIN 348110 ENSG00000242498 Arpin (MGI:1917670) -chr15 90083044 90102467 15q26.1 15q26.1 147650 IDH2, IDPM, D2HGA2 Isocitrate dehydrogenase, mitochondrial IDH2 3418 ENSG00000182054 D-2-hydroxyglutaric aciduria 2, 613657 (3) Idh2 (MGI:96414) -chr15 90184919 90229660 15q26.1 15q26.1 617029 SEMA4B Semaphorin 4B SEMA4B 10509 ENSG00000185033 Sema4b (MGI:107559) -chr15 90229974 90265758 15q25.3-q26.1 15q26.1 602293 CIB1, KIP Calcium- and integrin-binding protein 1 CIB1 10519 ENSG00000185043 Epidermodysplasia verruciformis 3, 618267 (3), Autosomal recessive Cib1 (MGI:1344418) -chr15 90234208 90245810 15q26.1 15q26.1 619240 GDPGP1 GDP-D-glucose phosphorylase 1 GDPGP1 390637 ENSG00000183208 Gdpgp1 (MGI:2443429) -chr15 90265662 90272210 15q26.1 15q26.1 616718 NGRN Neurite outgrowth-associated protein NGRN 51335 ENSG00000182768 Ngrn (MGI:1933212) -chr15 90388241 90502238 15q26 15q26.1 603379 IQGAP1, SAR1 RASGAP-like with IQ motifs (sar1, S. pombe, homolog of) IQGAP1 8826 ENSG00000140575 amplified in gastric cancer Iqgap1 (MGI:1352757) -chr15 90529914 90645344 15q26.1 15q26.1 608986 CRTC3, TORC3 CREB-regulated transcription coactivator 3 CRTC3 64784 ENSG00000140577 Crtc3 (MGI:1917711) -chr15 90717345 90816165 15q26.1 15q26.1 604610 RECQL3, RECQ2, BLM, BS, MGRISCE1 DNA helicase, RecQ-like 3 BLM 641 ENSG00000197299 Bloom syndrome, 210900 (3), Autosomal recessive Blm (MGI:1328362) -chr15 90868587 90883456 15q25-q26 15q26.1 136950 FURIN, PACE, FUR, PCSK3 Furin (paired basic amino acid cleaving enzyme) FURIN 5045 ENSG00000140564 less than 1.1kb 5' to FES Furin (MGI:97513) -chr15 90884420 90895775 15q26.1 15q26.1 190030 FES Oncogene FES, feline sarcoma virus FES 2242 ENSG00000182511 Fes (MGI:95514) -chr15 90902376 90922584 15q25 15q26.1 600988 MAN2A2, MANA2X Mannosidase, alpha-, type II, isozyme X MAN2A2 4122 ENSG00000196547 Man2a2 (MGI:2150656) -chr15 90930179 90954092 15q25-q26 15q26.1 611219 UNC45A, SMAP1, GCUNC45, OOHE unc-45 myosin chaperone A UNC45A 55898 ENSG00000140553 Osteootohepatoenteric syndrome, 619377 (3), Autosomal recessive Unc45a (MGI:2142246) -chr15 90954863 90964857 15q26.1 15q26.1 617997 RCCD1 RCC1 domain-containing protein 1 RCCD1 91433 ENSG00000166965 Rccd1 (MGI:2444156) -chr15 90966037 90994575 15q26.1 15q26.1 603484 PRC1 Protein regulating cytokinesis 1 PRC1 9055 ENSG00000198901 Prc1 (MGI:1858961) -chr15 90998415 91022838 15q26.1 15q26.1 608552 VPS33B VPS33B late endosome and lysosome associated VPS33B 26276 ENSG00000184056 Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3), Autosomal recessive Vps33b (MGI:2446237) -chr15 91099587 91302564 15q26.1 15q26.1 185861 SV2B, KIAA0735 Synaptic vesicle glycoprotein 2B SV2B 9899 ENSG00000185518 Sv2b (MGI:1927338) -chr15 91853707 92172434 15q26 15q26.1 612435 SLCO3A1, OATPD, OATP3A1 Solute carrier organic anion transporter family, member 3A1 SLCO3A1 28232 ENSG00000176463 Slco3a1 (MGI:1351867) -chr15 92393880 92468727 15q26 15q26.1 602546 STX Sialyltransferase X ST8SIA2 8128 ENSG00000140557 St8sia2 (MGI:106020) -chr15 92900323 93027995 15q26 15q26.1 602119 CHD2, DEE94 Chromodomain helicase DNA binding protein-2 CHD2 1106 ENSG00000173575 Develomental and epileptic encephalopathy 94, 615369 (3), Autosomal dominant Chd2 (MGI:2448567) -chr15 93035270 93089210 15q26.1 15q26.1 607362 RGMA RGM domain family, member A (repulsive guidance molecule) RGMA 56963 ENSG00000182175 Rgma (MGI:2679262) -chr15 94231560 94483951 15q26.2 15q26.2 616297 MCTP2 Multiple C2 domains-containing transmembrane protein 2 MCTP2 55784 ENSG00000140563 Mctp2 (MGI:2685335) -chr15 96326045 96340262 15q26.1-q26.2 15q26.2 107773 NR2F2, TFCOUP2, ARP1, CHTD4, SRXX5 Nuclear receptor subfamily 2, group F, member 2 (transcription factor COUP 2) NR2F2 7026 ENSG00000185551 46,XX sex reversal 5, 618901 (3), Autosomal dominant; Congenital heart defects, multiple types, 4, 615779 (3), Autosomal dominant Nr2f2 (MGI:1352452) -chr15 96783434 96785614 15q26.2 15q26.2 613948 SPATA8, SRG8 Spermatogenesis-associated protein 8 SPATA8 145946 ENSG00000185594 -chr15 98000000 101991189 15q26-qter 612626 DEL15q26qter, C15DELq26qter Chromosome 15q26-qter deletion syndrome contiguous gene deletion syndrome Chromosome 15q26-qter deletion syndrome, 612626 (4), Isolated cases -chr15 98000000 101991189 15q26 600318 IDDM3 Insulin-dependent diabetes mellitus-3 3402 {Diabetes mellitus, insulin-dependent, 3}, 600318 (2) -chr15 98000000 101991189 15q26-qter 614846 LVSKS Levy-Shanske syndrome (tetrasomy 15q26) Levy-Shanske syndrome, 614846 (4) -chr15 98000000 101991189 15q26 609289 VVS Syncope, familial vasovagal 105031671 Syncope, familial vasovagal, 609289 (2), Autosomal dominant -chr15 98645862 98650786 15q26.3 15q26.3 619212 IRAIN, IGF1RAS IGF1R antisense imprinted noncoding RNA IRAIN 104472848 -chr15 98648538 98964529 15q26.3 15q26.3 147370 IGF1R Insulin-like growth factor-1 receptor IGF1R 3480 ENSG00000140443 Insulin-like growth factor I, resistance to, 270450 (3), Autosomal dominant, Autosomal recessive Igf1r (MGI:96433) -chr15 99105068 99136585 15q26.3 15q26.3 606087 SYNM, DMN Synemin SYNM 23336 ENSG00000182253 Synm (MGI:2661187) -chr15 99565416 99716487 15q26 15q26.3 600660 MEF2A, ADCAD1 MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A) MEF2A 4205 ENSG00000068305 {Coronary artery disease, autosomal dominant, 1}, 608320 (3), Autosomal dominant Mef2a (MGI:99532) -chr15 99971436 100342923 15q24 15q26.3 607511 ADAMTS17, WMS4 ADAM metallopeptidase domain with thrombospondin type 1 motif, 17 ADAMTS17 170691 ENSG00000140470 Weill-Marchesani 4 syndrome, recessive, 613195 (3), Autosomal recessive Adamts17 (MGI:3588195) -chr15 100400394 100544981 15q26.3 15q26.3 615276 CERS3, LASS3, ARCI9 Ceramide synthase 3 CERS3 204219 ENSG00000154227 Ichthyosis, congenital, autosomal recessive 9, 615023 (3), Autosomal recessive Cers3 (MGI:2681008) -chr15 100566913 100603031 15q26 15q26.3 610350 LINS1, WINS1, FLJ10583, MRT27 Lines homolog 1 LINS1 55180 ENSG00000140471 Mental retardation, autosomal recessive 27, 614340 (3), Autosomal recessive Lins1 (MGI:1919885) -chr15 100602588 100651700 15q26.3 15q26.3 615052 ASB7 Ankyrin repeat- and SOCS box-containing protein 7 ASB7 140460 ENSG00000183475 Asb7 (MGI:2152835) -chr15 100879830 100916625 15q26 15q26.3 600463 ALDH1A3, ALDH6, MCOP8 Aldehyde dehydrogenase 1 family, member A3 ALDH1A3 220 ENSG00000184254 Microphthalmia, isolated 8, 615113 (3), Autosomal recessive Aldh1a3 (MGI:1861722) -chr15 100919016 101078256 15q26.3 15q26.3 610986 LRRK1 Leucine-rich repeat kinase 1 LRRK1 79705 ENSG00000154237 Lrrk1 (MGI:2142227) -chr15 101175726 101252047 15q26.3 15q26.3 608183 CHSY1, KIAA0990, TPBS Carbohydrate synthase 1 CHSY1 22856 ENSG00000131873 Temtamy preaxial brachydactyly syndrome, 605282 (3), Autosomal recessive Chsy1 (MGI:2681120) -chr15 101270808 101277484 15q26.3 15q26.3 607918 SELENOS, SEPS1, SELS, VIMP, ADO15 Selenoprotein S SELENOS 55829 ENSG00000131871 Selenos (MGI:95994) -chr15 101281509 101295247 15q26.3 15q26.3 603521 SNRPA1 Small nuclear ribonucleoprotein polypeptide A' SNRPA1 6627 ENSG00000131876 Snrpa1 (MGI:1916231) -chr15 101303932 101489706 15q26 15q26.3 167405 PCSK6, PACE4, SPC4 Proprotein convertase subtilisin/kexin type 6 PCSK6 5046 ENSG00000140479 Pcsk6 (MGI:102897) -chr15 101632976 101652380 15q26.3 15q26.3 610014 TM2D3, BLP2 TM2 domain-containing protein 3 TM2D3 80213 ENSG00000184277 Tm2d3 (MGI:1915884) -chr15 0 101991189 Chr.15 120340 COL1AR Collagen I, alpha, receptor COL1AR 1279 -chr16 0 16700000 16pter-p13 607339 CHDS1 Coronary heart disease, susceptibility to, 1 338334 {Coronary heart disease, susceptibility to}, 607339 (2) -chr16 0 7800000 16p13.3 610543 DEL16p13.3, RSTSS Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion syndrome) contiguous gene deletion syndrome Chromosome 16p13.3 deletion syndrome, 610543 (4) -chr16 0 7800000 16p13.3 613458 DUP16p13.3, C16DUPq13.3 Chromosome 16p13.3 duplication syndrome contiguous gene duplication syndrome Chromosome 16p13.3 duplication syndrome, 613458 (4), Autosomal dominant, Isolated cases -chr16 0 7800000 16pter-p13.3 141750 HBHR, ATR1 Alpha-thalassemia/mental retardation syndrome, type 1 contiguous gene syndrome involving deletion of HBA1 and HBA2 Alpha-thalassemia/mental retardation syndrome, type 1, 141750 (4), Autosomal dominant -chr16 0 36800000 16p 606668 IBD8 Inflammatory bowel disease 8 170595 {Inflammatory bowel disease 8}, 606668 (2) -chr16 0 7800000 16p13.3 156850 MCOPCT1 Microphthalmia with cataract 1 8130 proximal to HBA1 Microphthalmia with cataract 1, 156850 (2), Autosomal dominant -chr16 0 7800000 16p13.3 600273 PKDTS Polycystic kidney disease, infantile severe, with tuberous sclerosis contiguous gene syndrome caused by deletion of TSC2 and PKD1 Polycystic kidney disease, infantile severe, with tuberous sclerosis, 600273 (4), Autosomal dominant -chr16 46406 53607 16p13.3 16p13.3 606007 POLR3K, RPC11, HLD21 Polymerase III, RNA, subunit K POLR3K 51728 ENSG00000161980 Leukodystrophy, hypomyelinating, 21, 619310 (3), Autosomal recessive Polr3k (MGI:1914255) -chr16 58058 76354 16p13.3 16p13.3 614403 RHBDF1, IRHOM1, DIST1 Rhomboid 5, Drosophila, homolog of, 1 RHBDF1 64285 ENSG00000007384 Rhbdf1 (MGI:104328) -chr16 77006 85845 16pter-p13.3 16p13.3 156565 MPG, MDG N-methylpurine DNA glycosylase MPG 4350 ENSG00000103152 75kb upstream of HBZ Mpg (MGI:97073) -chr16 85385 138672 16p13.3 16p13.3 600928 NPRL3, CGTHBA, FFEVF3 Nitrogen permease regulator-like 3 NPRL3 8131 ENSG00000103148 Epilepsy, familial focal, with variable foci 3, 617118 (3), Autosomal dominant Nprl3 (MGI:109258) -chr16 152643 154502 16pter-p13.3 16p13.3 142310 HBZ Hemoglobin, zeta HBZ 3050 ENSG00000130656 Hba-x (MGI:96019) -chr16 165977 166763 16p13.3 16p13.3 609639 HBM Hemoglobin mu HBM 3042 ENSG00000206177 ?functional -chr16 172875 173709 16pter-p13.3 16p13.3 141850 HBA2, HBH, ECYT7 Hemoglobin alpha-2 HBA2 3040 ENSG00000188536 Heinz body anemia, 140700 (3), Autosomal dominant; Erythrocytosis 7, 617981 (3), Autosomal dominant; Thalassemia, alpha-, 604131 (3); Hemoglobin H disease, deletional and nondeletional, 613978 (3) Hba-a1 (MGI:96015) -chr16 176679 177521 16pter-p13.3 16p13.3 141800 HBA1, HBH, METHBA, ECYT7 Hemoglobin alpha-1 HBA1 3039 ENSG00000206172 1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3' Hemoglobin H disease, nondeletional, 613978 (3); Thalassemias, alpha-, 604131 (3); Heinz body anemias, alpha-, 140700 (3), Autosomal dominant; Methemoglobinemia, alpha type, 617973 (3), Autosomal dominant; Erythrocytosis 7, 617981 (3), Autosomal dominant -chr16 180458 181178 16pter-p13.3 16p13.3 142240 HBQ1 Hemoglobin theta-1 HBQ1 3049 ENSG00000086506 Hbq1a,Hbq1b (MGI:2685722,MGI:3613460) -chr16 188968 229448 16p13.3 16p13.3 607782 LUC7L LUC7-like LUC7L 55692 ENSG00000007392 Luc7l (MGI:1914228) -chr16 268300 275943 16p13.3 16p13.3 603895 RS11 Regulator of G protein signaling 11 RGS11 8786 ENSG00000076344 Rgs11 (MGI:1354739) -chr16 280590 283009 16p13.3 16p13.3 602844 ARHGDIG Rho GDP-dissociation inhibitor gamma ARHGDIG 398 ENSG00000242173 Arhgdig (MGI:108430) -chr16 283163 287214 16p13.3 16p13.3 608012 PDIA2, PDIP Protein disulfide isomerase, family A, member 2 PDIA2 64714 ENSG00000185615 Pdia2 (MGI:1916441) -chr16 287439 355225 16p13.3 16p13.3 603816 AXIN1, AXIN Axis inhibitor 1 AXIN1 8312 ENSG00000103126 hypermethylation of AXIN1 promoter seen in 1 CDUP patient Hepatocellular carcinoma, somatic, 114550 (3); ?Caudal duplication anomaly, 607864 (3) Axin1 (MGI:1096327) -chr16 366968 370537 16p13.3 16p13.3 604853 MRPL28, MAAT1 Mitochondrial ribosomal protein L28 MRPL28 10573 ENSG00000086504 Mrpl28 (MGI:1915861) -chr16 370787 381977 16p13.3 16p13.3 619342 PGAP6, TMEM8A Post-GPI attachment to proteins 6 PGAP6 58986 ENSG00000129925 Pgap6 (MGI:1926283) -chr16 396728 400753 16p13.3 16p13.3 601818 NME4 NME/NM23 nucleoside diphosphate kinase 4 NME4 4833 ENSG00000103202 Nme4 (MGI:1931148) -chr16 401884 412481 16p13.3 16p13.3 615839 DECR2, PDCR 2,4-dienoyl-CoA reductase 2, peroxisomal DECR2 26063 ENSG00000242612 Decr2 (MGI:1347059) -chr16 425620 523010 16p13.3 16p13.3 608738 RAB11FIP3, EFERIN, KIAA0665 RAB11 family-interacting protein 3 RAB11FIP3 9727 ENSG00000090565 Rab11fip3 (MGI:2444431) -chr16 527711 554635 16p13.3 16p13.3 603267 CAPN15, SOLH, OGIN Calpain 15 CAPN15 6650 ENSG00000103326 Oculogastrointestinal neurodevelopmental syndrome, 619318 (3), Autosomal recessive Capn15 (MGI:1355075) -chr16 569967 584108 16p13.3 16p13.3 605754 PIGQ, DEE77 Phosphatidylinositol glycan anchor biosynthesis class Q protein PIGQ 9091 ENSG00000007541 Developmental and epileptic encephalopathy 77, 618548 (3), Autosomal recessive Pigq (MGI:1333114) -chr16 630984 634116 16p13.3 16p13.3 608021 WFIKKN1, WFIKKN WAP, follistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 1 WFIKKN1 117166 ENSG00000127578 Wfikkn1 (MGI:2670967) -chr16 649362 667832 16p13.3 16p13.3 618290 WDR90, KIAA1924 WD repeat-containing protein 90 WDR90 197335 ENSG00000161996 Wdr90 (MGI:1921267) -chr16 668082 674173 16p13.3 16p13.3 613889 RHOT2, MIRO2, ARHT2 Ras homolog gene family, member T2 RHOT2 89941 ENSG00000140983 Rhot2 (MGI:2384892) -chr16 675670 678270 16p13.3 16p13.3 603264 RHBDL, RRP Rhomboid, Drosophila, homolog of RHBDL1 9028 ENSG00000103269 Rhbdl1 (MGI:2384891) -chr16 680409 682800 16p13.3 16p13.3 607207 STUB1, CHIP, SCAR16, SCA48 STIP1 homologous and U box-containing protein 1 STUB1 10273 ENSG00000103266 Spinocerebellar ataxia 48, 618093 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 16, 615768 (3), Autosomal recessive Stub1 (MGI:1891731) -chr16 692499 707852 16p13.3 16p13.3 609082 FBXL16, FBL16, C16orf22 F-box and leucine-rich repeat protein 16 FBXL16 146330 ENSG00000127585 Fbxl16 (MGI:2448488) -chr16 715117 719654 16p13.3 16p13.3 610998 METRN Meteorin METRN 79006 ENSG00000103260 Metrn (MGI:1917333) -chr16 720580 722589 16p13.3 16p13.3 618566 ANTKMT Adenine nucleotide translocase lysine methyltransferase ANTKMT 65990 ENSG00000103254 Antkmt (MGI:2384888) -chr16 722577 726879 16p13.3 16p13.3 614666 CCDC78, C16orf25, CNM4 Coiled-coil domain-containing protein 78 CCDC78 124093 ENSG00000162004 mutation identified in 1 CNM4 family ?Centronuclear myopathy 4, 614807 (3), Autosomal dominant Ccdc78 (MGI:2685784) -chr16 729764 740996 16p13.3 16p13.3 611118 NARFL, IOP1 Nuclear prelamin A recognition factor-like CIAO3 64428 ENSG00000103245 Ciao3 (MGI:1914813) -chr16 760733 768864 16p13.3 16p13.3 601051 MSLN Mesothelin MSLN 10232 ENSG00000102854 Msln (MGI:1888992) -chr16 788619 798073 16p13.3 16p13.3 613201 CHTF18, CHL12, CTF18 Chromosome transmission fidelity factor 18 CHTF18 63922 ENSG00000127586 Chtf18 (MGI:2384887) -chr16 798040 800733 16p13.3 16p13.3 607298 GNG13 Guanine nucleotide-binding protein, gamma-13 GNG13 51764 ENSG00000127588 Gng13 (MGI:1925616) -chr16 853633 981612 16p13.3 16p13.3 611761 LMF1, TMEM112 Lipase maturation factor 1 LMF1 64788 ENSG00000103227 Lipase deficiency, combined, 246650 (3), Autosomal recessive Lmf1 (MGI:1923733) -chr16 981769 986978 16p13.3 16p13.3 605923 SOX8 SRY-box 8 SOX8 30812 ENSG00000005513 Sox8 (MGI:98370) -chr16 1072746 1081453 16p13.3 16p13.3 182455 SSTR5 Somatostatin receptor-5 SSTR5 6755 ENSG00000162009 Sstr5 (MGI:894282) -chr16 1088225 1096305 16p13.3 16p13.3 614147 C1QTNF8, CTRP8 C1q- and tumor necrosis factor-related protein 8 C1QTNF8 390664 ENSG00000184471 -chr16 1153105 1221768 16p13.3 16p13.3 607904 CACNA1H, EIG6, ECA6, HALD4 Calcium channel, voltage-dependent, T type, alpha-1H subunit CACNA1H 8912 ENSG00000196557 {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3); Hyperaldosteronism, familial, type IV, 617027 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3) Cacna1h (MGI:1928842) -chr16 1221650 1226453 16p13.3 16p13.3 609341 TPSG1, TMT Tryptase, gamma-1 TPSG1 25823 ENSG00000116176 Tpsg1 (MGI:1349391) -chr16 1228335 1230183 16p13.3 16p13.3 191081 TPSB2, TPS2 Tryptase, beta 2 TPSB2 64499 ENSG00000197253 -chr16 1240704 1242553 16p13.3 16p13.3 191080 TPSAB1, TPS1 Tryptase, alpha/beta-1 TPSAB1 7177 ENSG00000172236 Tpsb2,Tpsab1 (MGI:96943,MGI:96942) -chr16 1256068 1259007 16p13.3 16p13.3 609272 TPSD1, MCP7L1 Tryptase, delta-1 TPSD1 23430 ENSG00000095917 Tpsab1 (MGI:96943) -chr16 1309151 1327016 16p13.3 16p13.3 601661 UBE2I Ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9) UBE2I 7329 ENSG00000103275 Ube2i (MGI:107365) -chr16 1333644 1349438 16p13.3 16p13.3 604009 BAIAP3, BAP3 BAI1-associated protein 3 BAIAP3 8938 ENSG00000007516 Baiap3 (MGI:2685783) -chr16 1349239 1351877 16p13.3 16p13.3 617058 TSR3 TSR3, aminocarboxypropyl transferase ribosome maturation factor TSR3 115939 ENSG00000007520 Tsr3 (MGI:1915577) -chr16 1351930 1364112 16p 16p13.3 607838 GNPTAG N-acetylglucosamine-1-phosphotransferase, gamma subunit GNPTG 84572 ENSG00000090581 Mucolipidosis III gamma, 252605 (3), Autosomal recessive Gnptg (MGI:2147006) -chr16 1363204 1414748 16p13.3 16p13.3 617463 UNKL, ZC3H5L, C16orf28 Unkempt family-like zinc finger UNKL 64718 ENSG00000059145 Unkl (MGI:1921404) -chr16 1431077 1434440 16p13.3 16p13.3 618656 PERCC1, ICR, DIAR11 Proline- and glutamate-rich protein with coiled-coil domain 1 PERCC1 105371045 ENSG00000284395 Intestine Critical Region (ICR) upstream of PERCC1 deleted in DIAR11 Diarrhea 11, malabsorptive, congenital, 618662 (3), Autosomal recessive Percc1 (MGI:5621540) -chr16 1434382 1444555 16p13.3 16p13.3 618740 CCDC154, C16orf29 Coiled-coil domain-containing protein 154 CCDC154 645811 ENSG00000197599 Ccdc154 (MGI:2685163) -chr16 1444934 1475027 16p13 16p13.3 602727 CLCN7, CLC7, OPTA2, OPTB4, HOD Chloride channel-7 CLCN7 1186 ENSG00000103249 Hypopigmentation, organomegaly, and delayed myelination and development, 618541 (3), Autosomal dominant; Osteopetrosis, autosomal recessive 4, 611490 (3), Autosomal recessive; Osteopetrosis, autosomal dominant 2, 166600 (3), Autosomal dominant Clcn7 (MGI:1347048) -chr16 1485885 1488943 16p13.3 16p13.3 613442 PTX4 Pentraxin 4, long PTX4 390667 ENSG00000251692 Ptx4 (MGI:1915759) -chr16 1493344 1510458 16p13.3 16p13.3 611140 TELO2, TEL2, CLK2, KIAA0683, HCLK2, YHFS Telomere maintenance 2, S. cerevisiae, homolog of TELO2 9894 ENSG00000100726 You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive Telo2 (MGI:1918968) -chr16 1510426 1612071 16p13.3 16p13.3 614620 IFT140, KIAA0590, SRTD9, MZSDS, RP80 Intraflagellar transport 140 IFT140 9742 ENSG00000187535 Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3), Autosomal recessive; Retinitis pigmentosa 80, 617781 (3), Autosomal recessive Ift140 (MGI:2146906) -chr16 1528677 1555567 16p13.3 16p13.3 611002 TMEM204, C16orf30, CLP24 Transmembrane protein 204 TMEM204 79652 ENSG00000131634 Tmem204 (MGI:3039635) -chr16 1678278 1702085 16p13.3 16p13.3 619241 JPT2, C16orf34, HN1L Jupiter microtubule-associated homolog 2 JPT2 90861 ENSG00000206053 Jpt2 (MGI:1196260) -chr16 1706182 1770350 16p13.3 16p13.3 605431 MAPK8IP3, SYD2, JSAP1, JIP3, NEDBA Mitogen-activated protein kinase 8-interacting protein 3 MAPK8IP3 23162 ENSG00000138834 Neurodevelopmental disorder with or without variable brain abnormalities, 618443 (3), Autosomal dominant Mapk8ip3 (MGI:1353598) -chr16 1770319 1771749 16p13.3 16p13.3 601817 NME3, NM23H3 NME/NM23 nucleoside diphosphate kinase 3 NME3 4832 ENSG00000103024 Nme3 (MGI:1930182) -chr16 1771894 1773133 16q13-q21 16p13.3 611994 MRPS34, MRPS12, COXPD32 Mitochondrial ribosomal protein S34 MRPS34 65993 ENSG00000074071 Combined oxidative phosphorylation deficiency 32, 617664 (3), Autosomal recessive Mrps34 (MGI:1930188) -chr16 1772809 1781701 16p13.3 16p13.3 610886 EME2 Essential meiotic structure-specific endonuclease 2 EME2 197342 ENSG00000197774 Eme2 (MGI:1919889) -chr16 1776711 1782570 16p13.3 16p13.3 611659 SPSB3, SSB3 SPRY domain- and SOCS box-containing 3 SPSB3 90864 ENSG00000162032 Spsb3 (MGI:1891471) -chr16 1782959 1789185 16p13.3 16p13.3 610779 NUBP2, CFD1 Nucleotide-binding protein 2 NUBP2 10101 ENSG00000095906 Nubp2 (MGI:1347072) -chr16 1790412 1794907 16p13.3 16p13.3 601489 IGFALS, ALS, ACLSD Insulin-like growth factor-binding protein, acid-labile subunit IGFALS 3483 ENSG00000099769 Acid-labile subunit, deficiency of, 615961 (3), Autosomal recessive Igfals (MGI:107973) -chr16 1807628 1827193 16p13 16p13.3 138760 HAGH, GLO2 Hydroxyacyl glutathione hydrolase; glyoxalase II HAGH 3029 ENSG00000063854 [Glyoxalase II deficiency], 614033 (1), Autosomal dominant Hagh (MGI:95745) -chr16 1827205 1840206 16p13.3 16p13.3 616320 FAHD1, FLJ36880 Fumarylacetoacetate hydrolase domain-containing protein 1 FAHD1 81889 ENSG00000180185 Fahd1 (MGI:1915886) -chr16 1833985 1872163 16p13.3 16p13.3 617670 MEIOB, SPGF22 Meiosis-specific protein with OB domains MEIOB 254528 ENSG00000162039 mutation identified in one SPGF22 family ?Spermatogenic failure 22, 617706 (3), Autosomal recessive Meiob (MGI:1922428) -chr16 1911474 1921427 16p13.3 16p13.3 619210 HS3ST6, 3OST6, HAE8 Heparan sulfate-glucosamine 3-sulfotransferase 6 HS3ST6 64711 ENSG00000162040 mutation identified in 1 HAE8 family ?Angioedema, hereditary, 8, 619367 (3), Autosomal dominant Hs3st6 (MGI:3580487) -chr16 1938228 1943198 16p13.3 16p13.3 606216 MSRB1, SEPX1, SELX Methionine sulfoxide reductase B1 MSRB1 51734 ENSG00000198736 Msrb1 (MGI:1351642) -chr16 1943973 1955122 16p13.3 16p13.3 617416 RPL3L, CMD2D Ribosomal protein L3-like RPL3L 6123 ENSG00000140986 Cardiomyopathy, dilated, 2D, 619371 (3), Autosomal recessive Rpl3l (MGI:1913461) -chr16 1959537 1961974 16p13.3 16p13.3 603843 NDUFB10, MC1DN35 NADH-ubiquinone oxidoreductase subunit B10 NDUFB10 4716 ENSG00000140990 mutation identified in 1 MC1DN35 patient ?Mitochondrial complex I deficiency, nuclear type 35, 619003 (3), Autosomal recessive Ndufb10 (MGI:1915592) -chr16 1962057 1964825 16p13.3 16p13.3 603624 RPS2 Ribosomal protein S2 RPS2 6187 ENSG00000140988 Rps2 (MGI:105110) -chr16 1972052 1982928 16p13.3 16p13.3 605915 TBL3 Transducin-beta-like 3 TBL3 10607 ENSG00000183751 Tbl3 (MGI:2384863) -chr16 1978916 1984026 16p13 16p13.3 611256 NOXO1 NADPH oxidase organizer 1 NOXO1 124056 ENSG00000196408 Noxo1 (MGI:1919143) -chr16 1984192 1987748 16p13.3-p13.12 16p13.3 600924 GFER, ERV1, ALR, MPMCD Growth factor, ERV1-like GFER 2671 ENSG00000127554 Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, 613076 (3), Autosomal recessive Gfer (MGI:107757) -chr16 1989969 1994274 16pter 16p13.3 603927 SYNGR3 Synaptogyrin 3 SYNGR3 9143 ENSG00000127561 Syngr3 (MGI:1341881) -chr16 1997653 2009820 16p13.3 16p13.3 617508 ZNF598 Zinc finger protein 598 ZNF598 90850 ENSG00000167962 Zfp598 (MGI:2670965) -chr16 2019784 2020754 16p13.3 16p13.3 607997 NPW, PPNPW, PPL8 Neuropeptide W NPW 283869 ENSG00000183971 Npw (MGI:2685781) -chr16 2026901 2039025 16p13.3 16p13.3 606553 SLC9A3R2, SIP1, NHERF2 Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulatory factor 2 SLC9A3R2 9351 ENSG00000065054 Slc9a3r2 (MGI:1890662) -chr16 2039819 2047833 16p13.3-p13.2 16p13.3 602656 NTHL1, OCTS3, FAP3 Endonuclease III, E. coli, homolog of NTHL1 4913 ENSG00000065057 Familial adenomatous polyposis 3, 616415 (3), Autosomal recessive Nthl1 (MGI:1313275) -chr16 2047803 2089490 16p13.3 16p13.3 191092 TSC2, LAM Tuberin (tuberous sclerosis 2 gene) TSC2 7249 ENSG00000103197 somatic mutation identified in 1 FCORD2 patient Lymphangioleiomyomatosis, somatic, 606690 (3); ?Focal cortical dysplasia, type II, somatic, 607341 (3); Tuberous sclerosis-2, 613254 (3), Autosomal dominant Tsc2 (MGI:102548) -chr16 2088707 2135897 16p13.3-p13.12 16p13.3 601313 PKD1 Polycystin-1 PKD1 5310 ENSG00000008710 Polycystic kidney disease 1, 173900 (3), Autosomal dominant Pkd1 (MGI:97603) -chr16 2090194 2090283 16p13.3 16p13.3 611621 MIR1225, MIRN1225 Micro RNA 1225 MIR1225 100188847 ENSG00000221656 -chr16 2148143 2154164 16p13.3 16p13.3 605455 RAB26 RAS-associated protein RAB26 RAB26 25837 ENSG00000167964 Rab26 (MGI:2443284) -chr16 2155777 2178128 16p13.3 16p13.3 606692 TRAF7, RFWD1, CAFDADD TNF receptor-associated factor 7 TRAF7 84231 ENSG00000131653 Cardiac, facial, and digital anomalies with developmental delay, 618164 (3), Autosomal dominant Traf7 (MGI:3042141) -chr16 2177179 2196604 16p13.3 16p13.3 612184 CASKIN1, KIAA1306 CASK-interacting protein 1 CASKIN1 57524 ENSG00000167971 Caskin1 (MGI:2442952) -chr16 2204627 2209452 16p13.3 16p13.3 612190 MLST8, GBL, LST8, WAT1, POP3 MTOR-associated protein LST8 MLST8 64223 ENSG00000167965 Mlst8 (MGI:1929514) -chr16 2211592 2214839 16p13.3 16p13.3 172280 PGP Phosphoglycolate phosphatase PGP 283871 ENSG00000184207 no recombination with PKD1 Pgp (MGI:1914328) -chr16 2223497 2235741 16p13.3 16p13.3 603022 E4F1, E4F E4F transcription factor 1 E4F1 1877 ENSG00000167967 E4f1 (MGI:109530) -chr16 2236443 2238710 16p13.3 16p13.3 602622 DNASE1L2 Deoxyribonuclease I-like 2 DNASE1L2 1775 ENSG00000167968 Dnase1l2 (MGI:1913955) -chr16 2239401 2251586 16p13.3 16p13.3 600305 ECI1, DCI Enoyl-CoA delta isomerase 1 ECI1 1632 ENSG00000167969 Eci1 (MGI:94871) -chr16 2253115 2268125 16p13.3 16p13.3 606447 RNPS1 RNA-binding protein S1 RNPS1 10921 ENSG00000205937 Rnps1 (MGI:97960) -chr16 2275880 2340727 16p13.3 16p13.3 601615 ABCA3, ABC3, SMDP3 ATP-binding cassette-3 ABCA3 21 ENSG00000167972 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3), Autosomal recessive Abca3 (MGI:1351617) -chr16 2429446 2458853 16p13.3 16p13.3 600227 CCNF, FBX1, FTDALS5 Cyclin F CCNF 899 ENSG00000162063 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, 619141 (3) Ccnf (MGI:102551) -chr16 2471296 2474144 16p13.3 16p13.3 602349 NTN3, NTN2L Netrin 3 NTN3 4917 ENSG00000162068 Ntn3 (MGI:1341188) -chr16 2475103 2509668 16p13.3 16p13.3 613577 TBC1D24, KIAA1171, FIME, DEE16, DOORS, DFNB86, DFNA65, EPRPDC TBC1 domain family, member 24 TBC1D24 57465 ENSG00000162065 Deafness, autosomal recessive 86, 614617 (3), Autosomal recessive; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105 (3), Autosomal recessive; Myoclonic epilepsy, infantile, familial, 605021 (3), Autosomal recessive; Deafness, autosomal dominant 65, 616044 (3), Autosomal dominant; Developmental and epileptic encephalopathy 16, 615338 (3), Autosomal recessive; DOORS syndrome, 220500 (3), Autosomal recessive Tbc1d24 (MGI:2443456) -chr16 2513725 2520217 16p13.3 16p13.3 108745 ATP6V0C, ATP6L, ATP6C ATPase, H+ transporting, V0 subunit C ATP6V0C 527 ENSG00000185883 Atp6v0c (MGI:88116) -chr16 2530034 2531407 16p13.3 16p13.3 611113 CEMP1, CP23 Cementum protein 1 CEMP1 752014 ENSG00000205923 -chr16 2538013 2603189 16p13.3 16p13.3 605213 PDPK1, PDK1 3-phosphoinositide-dependent protein kinase 1 PDPK1 5170 ENSG00000140992 Pdpk1 (MGI:1338068) -chr16 2682522 2709029 16p13.3 16p13.3 611285 KCTD5 Potassium channel tetramerization domain-containing protein 5 KCTD5 54442 ENSG00000167977 Kctd5 (MGI:1916509) -chr16 2712417 2720223 16p13.3 16p13.3 608018 PRSS27 Serine protease 27 PRSS27 83886 ENSG00000172382 Prss27 (MGI:2450123) -chr16 2750902 2771411 Chr.16 16p13.3 606032 SRRM2, SRM300, KIAA0324 Serine/arginine repetitive matrix 2 (ser/arg-rich splicing factor-related nuclear matrix protein, 300kD) SRRM2 23524 ENSG00000167978 Srrm2 (MGI:1923206) -chr16 2771413 2777279 16p13.3 16p13.3 600787 TCEB2, ELOB Transcription elongation factor B, polypeptide 2 ELOB 6923 ENSG00000103363 Elob (MGI:1914923) -chr16 2783952 2787914 16p13.3 16p13.3 613797 PRSS33, EOS Protease, serine, 33 PRSS33 260429 ENSG00000103355 Prss33 (MGI:2661234) -chr16 2817236 2821718 16p13.3 16p13.3 608159 PRSS21, ESP1 Protease, serine, 21 (testisin) PRSS21 10942 ENSG00000007038 Prss21 (MGI:1916698) -chr16 2852728 2858629 16p13.3 16p13.3 609343 PRSS22 Protease, serine, 22 PRSS22 64063 ENSG00000005001 Prss22 (MGI:1918085) -chr16 2964274 2968379 16p13.3 16p13.3 609899 KREMEN2, KRM2 Kringle domain-containing transmembrane protein 2 KREMEN2 79412 ENSG00000131650 Kremen2 (MGI:1920266) -chr16 2969347 2973483 16p13.3 16p13.3 614578 PAQR4 Progestin and ADIPOQ receptor family, member 4 PAQR4 124222 ENSG00000162073 Paqr4 (MGI:1923748) -chr16 2972807 2980493 16p13.3 16p13.3 602474 PKMYT1, MYT1 Protein kinase, membrane-associated tyrosine/threonine, 1 PKMYT1 9088 ENSG00000127564 Pkmyt1 (MGI:2137630) -chr16 3012922 3014504 16p13.3 16p13.3 615799 CLDN9, DFNB116 Claudin 9 CLDN9 9080 ENSG00000213937 mutation identified in 1 DFNB116 family ?Deafness, autosomal recessive 116, 619093 (3), Autosomal recessive Cldn9 (MGI:1913100) -chr16 3014711 3018182 16p13.3 16p13.3 615798 CLDN6 Claudin 6 CLDN6 9074 ENSG00000184697 Cldn6 (MGI:1859284) -chr16 3020367 3022382 16p13.3 16p13.3 605914 TNFRSF12A, FN14, TWEAKR Tumor necrosis factor receptor superfamily, member 12A TNFRSF12A 51330 ENSG00000006327 Tnfrsf12a (MGI:1351484) -chr16 3022619 3024285 16p13.3 16p13.3 618818 HCFC1R1, HPIP Host cell factor C1 regulator 1 HCFC1R1 54985 ENSG00000103145 Hcfc1r1 (MGI:2663619) -chr16 3024034 3027749 16p13.3 16p13.3 615403 THOC6, FSAP35, BBIS THO complex subunit 6 THOC6 79228 ENSG00000131652 Beaulieu-Boycott-Innes syndrome, 613680 (3), Autosomal recessive Thoc6 (MGI:2677480) -chr16 3027681 3036984 16p13.3 16p13.3 617003 BICDL2, BICDR2, CCDC64B BICD family-like cargo adaptor 2 BICDL2 146439 ENSG00000162069 Bicdl2 (MGI:2388267) -chr16 3045962 3060728 16p13.3 16p13.3 608482 MMP25, MMP20A Matrix metalloproteinase 25 MMP25 64386 ENSG00000008516 Mmp25 (MGI:2443938) -chr16 3065402 3069529 16p13.3 16p13.3 606001 IL32, NK4 Interleukin 32 IL32 9235 ENSG00000008517 -chr16 3088889 3099293 16p13.3 16p13.3 618365 ZSCAN10, ZFP206 Zinc finger- and SCAN domain-containing protein 10 ZSCAN10 84891 ENSG00000130182 Zscan10 (MGI:3040700) -chr16 3112585 3120516 16p13.3 16p13.3 603436 ZNF205, ZNF210 Zinc finger protein-205 ZNF205 7755 ENSG00000122386 Zfp13 (MGI:99159) -chr16 3135028 3142803 16p13.3 16p13.3 608387 ZNF213, CR53 Zinc finger protein 213 ZNF213 7760 ENSG00000085644 Zfp213 (MGI:3053094) -chr16 3188203 3206555 16p13 16p13.3 603232 OR1F1, OLFMF Olfactory receptor, family 1, subfamily F, member 1 OR1F1 4992 ENSG00000168124 Olfr161 (MGI:3032605) -chr16 3222324 3236220 16p13 16p13.3 603231 ZNF200 Zinc finger protein-200 ZNF200 7752 ENSG00000010539 -chr16 3242026 3256775 16p13 16p13.3 608107 MEFV, MEF, FMF, PAAND MEFV innate immunity regulator, pyrin MEFV 4210 ENSG00000103313 between D16S80 and D16S283 Neutrophilic dermatosis, acute febrile, 608068 (3), Autosomal dominant; Familial Mediterranean fever, AR, 249100 (3), Autosomal recessive; Familial Mediterranean fever, AD, 134610 (3), Autosomal dominant Mefv (MGI:1859396) -chr16 3283182 3301648 16p13.3 16p13.3 604191 ZNF263 Zinc finger protein 263 ZNF263 10127 ENSG00000006194 Zfp263 (MGI:1921370) -chr16 3298807 3305429 16p13 16p13.3 612969 TIGD7, SANCHO Tigger transposable element-derived gene 7 TIGD7 91151 ENSG00000140993 -chr16 3305477 3322998 16pter-p11 16p13.3 601473 ZNF75A Zinc finger protein-75A ZNF75A 7627 ENSG00000162086 -chr16 3401214 3409363 16p13.3 16p13.3 603900 ZNF174 Zinc finger protein-174 ZNF174 7727 ENSG00000103343 Zfp174 (MGI:2686600) -chr16 3432413 3443503 16p13.3 16p13.3 614685 ZNF597 Zinc finger protein 597 ZNF597 146434 ENSG00000167981 Zfp597 (MGI:1918313) -chr16 3443610 3486962 16p13.3 16p13.3 614246 NAA60, NAT15 N-alpha-acetyltransferase 60, NatF catalytic subunit NAA60 79903 ENSG00000122390 Naa60 (MGI:1922013) -chr16 3500977 3539047 16p13 16p13.3 616787 CLUAP1, QILIN, FAP22, KIAA0643 Clusterin-associated protein 1 CLUAP1 23059 ENSG00000103351 Cluap1 (MGI:1924029) -chr16 3539032 3577781 16p13.3 16p13.3 615648 NLRC3 NLR family, caspase recruitment domain-containing 3 NLRC3 197358 ENSG00000167984 Nlrc3 (MGI:2444070) -chr16 3579652 3611638 16p13.3 16p13.3 613278 SLX4, BTBD12, MUS312, KIAA1784, KIAA1987, FANCP SLX4 structure-specific endonuclease subunit SLX4 84464 ENSG00000188827 Fanconi anemia, complementation group P, 613951 (3), Autosomal recessive Slx4 (MGI:106299) -chr16 3611736 3665471 16p13.3 16p13.3 125505 DNASE1, DNL1 Deoxyribonuclease I DNASE1 1773 ENSG00000213918 {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant Dnase1 (MGI:103157) -chr16 3658036 3717523 16p13.3 16p13.3 606219 TRAP1, HSP75, HSP90L Tumor necrosis factor receptor-associated protein 1 TRAP1 10131 ENSG00000126602 Trap1 (MGI:1915265) -chr16 3725053 3880726 16p13.3 16p13.3 600140 CREBBP, CBP, RSTS1, MKHK1 CREB binding protein CREBBP 1387 ENSG00000005339 fusion partner with MORF in AML; fusion partner with MLL in therapy-related acute leukemia; fusion partner with MOZ in AML Menke-Hennekam syndrome 1, 618332 (3), Autosomal dominant; Rubinstein-Taybi syndrome 1, 180849 (3), Autosomal dominant Crebbp (MGI:1098280) -chr16 3953386 4116441 16p13.3 16p13.3 603302 ADCY9 Adenylate cyclase-9 ADCY9 115 ENSG00000162104 Adcy9 (MGI:108450) -chr16 4189373 4242252 16p13.3 16p13.3 604992 SRL Sarcalumenin SRL 6345 ENSG00000185739 Srl (MGI:2146620) -chr16 4257185 4273022 16p13 16p13.3 600743 TFAP4 Transcription factor AP-4 (activating enhancer-binding protein 4) TFAP4 7023 ENSG00000090447 Tfap4 (MGI:103239) -chr16 4314760 4339594 16p13.3 16p13.3 608539 GLIS2, NPHP7 GLIS family zinc finger protein 2 GLIS2 84662 ENSG00000126603 Nephronophthisis 7, 611498 (3) Glis2 (MGI:1932535) -chr16 4340250 4351320 16p13.3 16p13.3 614336 PAM16, MAGMAS, SMDMDM Presequence translocase-associated motor 16 PAM16 51025 ENSG00000217930 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3), Autosomal recessive Pam16,Pam16l (MGI:3704359,MGI:1913699) -chr16 4354541 4416595 16p13.3 16p13.3 611668 CORO7, POD1, CRN7 Coronin 7 CORO7 79585 ENSG00000262246 Coro7 (MGI:1926135) -chr16 4371847 4383537 16p13.3 16p13.3 608843 VASN Vasorin VASN 114990 ENSG00000168140 Vasn (MGI:2177651) -chr16 4425867 4456774 16p13.3 16p13.3 608382 DNAJA3, TID1 DNAJ, E. coli, homolog of, subfamily A, member 3 DNAJA3 9093 ENSG00000103423 Dnaja3 (MGI:1933786) -chr16 4474696 4510346 16p13.3 16p13.3 141251 HMOX2 Heme oxygenase 2 HMOX2 3163 ENSG00000103415 Hmox2 (MGI:109373) -chr16 4510668 4538772 16p13.3 16p13.3 610503 CDIP1, C16orf5 Cell death-inducing p53 target 1 CDIP1 29965 ENSG00000089486 Cdip1 (MGI:1913876) -chr16 4624825 4690971 16p13.3 16p13.3 607559 MGRN1, KIAA0544 Mahogunin, ring finger 1 MGRN1 23295 ENSG00000102858 Mgrn1 (MGI:2447670) -chr16 4688929 4695858 16p13.3 16p13.3 617338 NUDT16L1, SDOS Nudix hydrolase 16-like 1 NUDT16L1 84309 ENSG00000168101 Nudt16l1 (MGI:1914161) -chr16 4696509 4734346 16p13.3 16p13.3 617310 ANKS3 Ankyrin repeat and sterile alpha motif domains-containing protein 3 ANKS3 124401 ENSG00000168096 Anks3 (MGI:1919865) -chr16 4777589 4791609 16p13.3 16p13.3 611562 SEPT12, SPGF10 Septin 12 SEPTIN12 124404 ENSG00000140623 Spermatogenic failure 10, 614822 (3), Autosomal dominant Septin12 (MGI:1918339) -chr16 4796966 4802859 16p13.3 16p13.3 614574 ROGDI, KTZS Rogdi atypical leucine zipper ROGDI 79641 ENSG00000067836 Kohlschutter-Tonz syndrome, 226750 (3), Autosomal recessive Rogdi (MGI:1913299) -chr16 4803202 4848031 16p13.3 16p13.3 610660 GLYR1, NP60 Glyoxylate reductase 1 homolog GLYR1 84656 ENSG00000140632 Glyr1 (MGI:1921272) -chr16 4846664 4882400 16p13.3 16p13.3 609771 UBN1 Ubinuclein 1 UBN1 29855 ENSG00000118900 Ubn1 (MGI:1891307) -chr16 4882506 4937147 16p13 16p13.3 602871 PPL Periplakin PPL 5493 ENSG00000118898 Ppl (MGI:1194898) -chr16 4958305 5019156 16p13.3 16p13.3 619412 SEC14L5, KIAA0420 Sec14-like lipid-binding protein 5 SEC14L5 9717 ENSG00000103184 Sec14l5 (MGI:3616084) -chr16 5024843 5033939 16p13.3 16p13.3 607985 NAGPA, UCE N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase NAGPA 51172 ENSG00000103174 Nagpa (MGI:1351598) -chr16 5071824 5087378 16p13.3 16p13.3 605907 ALG1, HMAT1, HMT1, CDG1K ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ALG1 56052 ENSG00000033011 Congenital disorder of glycosylation, type Ik, 608540 (3), Autosomal recessive Alg1 (MGI:2384774) -chr16 5084283 5097794 16p13.3 16p13.3 615263 EEF2KMT, FAM86A Eukaryotic elongation factor 2 lysine methyltransferase EEF2KMT 196483 ENSG00000118894 Eef2kmt (MGI:1917761) -chr16 5239751 7713342 16p13 16p13.3 605104 RBFOX1, 2BP1, FOX1, HRNBP1 RNA-binding protein FOX1, C. elegans, homolog of, 1 RBFOX1 54715 ENSG00000078328 Rbfox1 (MGI:1926224) -chr16 8526551 8590510 16p13.3 16p13.2 611579 TMEM114 Transmembrane protein 114 TMEM114 283953 ENSG00000232258 Tmem114 (MGI:1921970) -chr16 8621669 8673564 16p13.2 16p13.2 615261 METTL22, C16orf68 Methyltransferase-like 22 METTL22 79091 ENSG00000067365 Mettl22 (MGI:2384301) -chr16 8674616 8784569 16p13.3 16p13.2 137150 ABAT, GABAT 4-aminobutyrate aminotransferase ABAT 18 ENSG00000183044 GABA-transaminase deficiency, 613163 (3), Autosomal recessive Abat (MGI:2443582) -chr16 8797812 8849325 16p13.3-p13.2 16p13.2 601785 PMM2, CDG1A Phosphomannomutase 2 PMM2 5373 ENSG00000140650 Congenital disorder of glycosylation, type Ia, 212065 (3), Autosomal recessive Pmm2 (MGI:1859214) -chr16 8852941 8869005 16p13.2 16p13.2 616885 CARHSP1, CRHSP24 Calcium-regulated heat-stable protein 1 CARHSP1 23589 ENSG00000153048 Gm9791,Carhsp1 (MGI:1196368,MGI:3642317) -chr16 8892096 8963911 16p13.3 16p13.2 602519 USP7, HAUSP, HAFOUS Ubiquitin-specific protease-7, herpes virus-associated USP7 7874 ENSG00000187555 Hao-Fountain syndrome, 616863 (3), Autosomal dominant Usp7 (MGI:2182061) -chr16 9753403 10182927 16p13 16p13.2 138253 GRIN2A, NMDAR2A, FESD, LKS Glutamate receptor, ionotropic, N-methyl D-aspartate 2A GRIN2A 2903 ENSG00000183454 Epilepsy, focal, with speech disorder and with or without impaired intellectual development, 245570 (3), Autosomal dominant Grin2a (MGI:95820) -chr16 10386060 10483642 16p13.13 16p-p 613645 ATF7IP2, MCAF2 Activating transcription factor 7-interacting protein 2 ATF7IP2 80063 ENSG00000166669 Atf7ip2 (MGI:1922579) -chr16 10528421 10580597 16p13.2 16p13.13 602334 EMP2, NPHS10 Epithelial membrane protein 2 EMP2 2013 ENSG00000213853 Nephrotic syndrome, type 10, 615861 (3), Autosomal recessive Emp2 (MGI:1098726) -chr16 10627500 10694929 16p13.13 16p13.13 618686 TEKT5 Tektin 5 TEKT5 146279 ENSG00000153060 Tekt5 (MGI:1917676) -chr16 10743163 10769350 16p13.1 16p13.13 600280 NUBP1, NBP Nucleotide-binding protein 1 NUBP1 4682 ENSG00000103274 Nubp1 (MGI:1347073) -chr16 10866207 10941561 16p13.13 16p13.13 600005 CIITA, MHC2TA, C2TA Class II major histocompatibility complex transactivator CIITA 4261 ENSG00000179583 {Rheumatoid arthritis, susceptibility to}, 180300 (3); Bare lymphocyte syndrome, type II, complementation group A, 209920 (3), Autosomal recessive Ciita (MGI:108445) -chr16 10928890 10942467 16p13.13 16p13.13 617901 DEXI, MYLE Dexamethasone-induced gene DEXI 28955 ENSG00000182108 Dexi (MGI:1926236) -chr16 10944538 11193271 16p13.13 16p13.13 611303 CLEC16A, KIAA0350 C-type lectin domain family 16, member A CLEC16A 23274 ENSG00000038532 Clec16a (MGI:1921624) -chr16 11254416 11256203 16p13.2 16p13.13 603597 SOCS1, SSI1, CIS1, CISH1, AISIMD Suppressor of cytokine signaling 1 SOCS1 8651 ENSG00000185338 Autoinflammatory syndrome, familial, with or without immunodeficiency, 619375 (3), Autosomal dominant Socs1 (MGI:1354910) -chr16 11267856 11269324 16p13.3 16p13.13 190232 TNP2 Transition protein-2 (during histone to protamine replacement) TNP2 7142 ENSG00000178279 in 13kb segment with PRM1 and PRM2 Tnp2 (MGI:98785) -chr16 11275638 11276479 16p13.3 16p13.13 182890 PRM2 Sperm protamine P2 PRM2 5620 ENSG00000122304 in same 4.8kb fragment as PRM2 Prm2 (MGI:97766) -chr16 11280840 11281329 16p13.3 16p13.13 182880 PRM1 Sperm protamine P1 PRM1 5619 ENSG00000175646 16q21 = conflicting localization Prm1 (MGI:97765) -chr16 11345458 11351759 16p13.13 16p13.13 612426 RMI2, C16orf75, BLAP18 RecQ-mediated genome instability 2 RMI2 116028 ENSG00000175643 Rmi2 (MGI:2685383) -chr16 11547721 11636376 16p13.3-p12 16p13.13 603795 LITAF, CMT1C LPS-induced TNFA factor LITAF 9516 ENSG00000189067 Charcot-Marie-Tooth disease, type 1C, 601098 (3), Autosomal dominant Litaf (MGI:1929512) -chr16 11668454 11679153 16p13 16p13.13 603032 SNN Stannin SNN 8303 ENSG00000184602 Snn (MGI:1276549) -chr16 11679079 11742856 16p13.13 16p13.13 617792 TXNDC11, EFP1 Thioredoxin domain-containing protein 11 TXNDC11 51061 ENSG00000153066 Txndc11 (MGI:1923620) -chr16 11819829 11828831 16p13.13 16p13.13 613746 BCAR4 Breast cancer antiestrogen resistance 4 BCAR4 400500 ENSG00000262117 -chr16 11833849 11851541 16p13 16p13.13 615874 RSL1D1, CSIG, PBK1 Ribosomal L1 domain-containing protein 1 RSL1D1 26156 ENSG00000171490 Rsl1d1 (MGI:1913659) -chr16 11868127 11916653 16p13.1 16p13.13 139259 GSPT1 G1 to S phase transition-1 GSPT1 2935 ENSG00000103342 Gspt1 (MGI:1316728) -chr16 11965209 11968067 16p13.1 16p13.13 109545 TNFRSF17, BCMA Tumor necrosis factor receptor superfamily, member 17 (B-cell maturation factor) TNFRSF17 608 ENSG00000048462 Tnfrsf17 (MGI:1343050) -chr16 12659798 12803886 16p13.12 16p13.12 615603 CPPED1 Calcineurin-like phosphoesterase domain-containing protein 1 CPPED1 55313 ENSG00000103381 Cpped1 (MGI:2443300) -chr16 12901597 13563426 16p13.12 16p13.12 613346 SHISA9, CKAMP44 Shisa family, member 9 SHISA9 729993 ENSG00000237515 Shisa9 (MGI:1919805) -chr16 13920136 13952347 16p13.3-p13.13 16p13.12 133520 ERCC4, XPF, FANCQ, XFEPS Excision-repair, complementing defective, in Chinese hamster, number 4 ERCC4 2072 ENSG00000175595 Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3), Autosomal recessive; XFE progeroid syndrome, 610965 (3), Autosomal recessive; Xeroderma pigmentosum, group F, 278760 (3), Autosomal recessive; Fanconi anemia, complementation group Q, 615272 (3), Autosomal recessive Ercc4 (MGI:1354163) -chr16 14071061 14266778 16p13.1 16p13.12 609463 MRTFB, MKL2 Myocardin-related transcription factor B MRTFB 57496 ENSG00000186260 Mrtfb (MGI:3050795) -chr16 14303966 14304048 16p13.12 16p13.12 614734 MIR193B Micro RNA 193B MIR193B 574455 ENSG00000207639 Mir193b (MGI:3718458) -chr16 14309284 14309370 16p13.12 16p13.12 614735 MIR365A Micro RNA 365A MIR365A 100126355 ENSG00000199130 Mir365-1 (MGI:3619371) -chr16 14435700 14630285 16p13.12 16p13.12 604212 PARN, DAN, DKCB6, PFBMFT4 Polyadenylate-specific ribonuclease PARN 5073 ENSG00000140694 Dyskeratosis congenita, autosomal recessive 6, 616353 (3), Autosomal recessive; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3), Autosomal dominant Parn (MGI:1921358) -chr16 14672547 14694661 16p13.1-p12 16p13.12 603603 PLA2G10, SPLA2, GXSPLA2 Phospholipase A2, group X PLA2G10 8399 ENSG00000069764 Pla2g10 (MGI:1347522) -chr16 14700000 16700000 16p13 608903 ADHD1 Attention deficit-hyperactivity disorder, susceptibility to, 1 450087 max lod at D16S3114 {Attention deficit-hyperactivity disorder}, 143465 (2), Autosomal dominant -chr16 14700000 16700000 16p13 608558 BMIQ5 Body mass index quantitative trait locus 5 449016 near D16S404 and D16S764 [Body mass index QTL5], 608558 (2) -chr16 14700000 28500000 16p13-p12 610260 IHPS2 Pyloric stenosis, infantile hypertrophic, 2 780923 Pyloric stenosis, infantile hypertrophic, 2, 610260 (2) -chr16 14833720 14896156 16p13.11 16p13.11 609157 NOMO1 Nodal modulator 1 NOMO1 23420 ENSG00000103512 Nomo1 (MGI:2385850) -chr16 14937442 14952055 16p13.1 16p13.11 606406 NPIP Nuclear pore complex-interacting protein NPIPA1 9284 ENSG00000183426 -chr16 14974590 15153342 16p13.11 16p13.11 614244 PDXDC1, KIAA0251 Pyridoxal-dependent decarboxylase domain-containing protein 1 PDXDC1 23042 ENSG00000179889 Pdxdc1 (MGI:1920909) -chr16 15037852 15056073 16p13.11 16p13.11 615367 NTAN1 N-terminal asparagine amidase NTAN1 123803 ENSG00000157045 Ntan1 (MGI:108471) -chr16 15060021 15094334 16p12 16p13.11 605121 RRN3, TIFIA RRN3, S. cerevisiae, homolog of RRN3 54700 ENSG00000085721 Rrn3 (MGI:1925255) -chr16 15395568 15413270 16p13.1 16p13.11 618100 MPV17L MPV17 mitochondrial inner membrane protein-like MPV17L 255027 ENSG00000156968 Mpv17l (MGI:2135951) -chr16 15594386 15643165 16p13.13 16p13.11 614593 MARF1, KIAA0430, LKAP Meiosis regulator and mRNA stability factor 1 MARF1 9665 ENSG00000166783 Marf1 (MGI:2444505) -chr16 15643266 15726352 16p13.1 16p13.11 609449 NDE1, NUDE, LIS4, MHAC nudE neurodevelopment protein 1 NDE1 54820 ENSG00000072864 mutation identified in 1 MHAC family Lissencephaly 4 (with microcephaly), 614019 (3), Autosomal recessive; ?Microhydranencephaly, 605013 (3), Autosomal recessive Nde1 (MGI:1914453) -chr16 15703134 15857031 16p13.13-p13.12 16p13.11 160745 MYH11, AAT4, FAA4, VSCM2 Myosin, heavy polypeptide-11, smooth muscle MYH11 4629 ENSG00000133392 fused with CBFB by inversion in acute myelomonocytic leukemia Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, 619351 (3), Autosomal recessive; Aortic aneurysm, familial thoracic 4, 132900 (3), Autosomal dominant; Visceral myopathy 2, 619350 (3), Autosomal dominant Myh11 (MGI:102643) -chr16 15865718 15888602 16p13.11 16p13.11 617149 FOPNL, FOR20, C16orf63 FGFR1OP N-terminal domain-like protein CEP20 123811 ENSG00000133393 Cep20 (MGI:1913336) -chr16 15949615 16143061 16p13.1 16p13.11 158343 ABCC1, MRP1, MRP, DFNA77 ATP-binding cassette, subfamily C, member 1 (multidrug resistance-associated protein 1) ABCC1 4363 ENSG00000103222 mutation identified in 1 DFNA77 family ?Deafness, autosomal dominant 77, 618915 (3), Autosomal dominant Abcc1 (MGI:102676) -chr16 16149564 16223616 16p13.1 16p13.11 603234 ABCC6, ARA, ABC34, MLP1, PXE, GACI2 ATP-binding cassette, subfamily C, member 6 ABCC6 368 ENSG00000091262 Pseudoxanthoma elasticum, 264800 (3), Autosomal recessive; Arterial calcification, generalized, of infancy, 2, 614473 (3), Autosomal recessive; Pseudoxanthoma elasticum, forme fruste, 177850 (3), Autosomal dominant Abcc6 (MGI:1351634) -chr16 16232527 16294810 16p13.11 16p13.11 609159 NOMO3 Nodal modulator 3 NOMO3 408050 ENSG00000103226 Nomo1 (MGI:2385850) -chr16 16700000 28500000 16p12.3-p12.1 602594 RP22 Retinitis pigmentosa-22 6114 Retinitis pigmentosa 22, 602594 (2) -chr16 16700000 56000000 16p12.3-q12.2 609939 SLEB6 Systemic lupus erythematosus, susceptibility to, 6 {Systemic lupus erythematosus, susceptibility to, 6}, 609939 (2) -chr16 17101768 17470959 16p13.1 16p12.3 608124 XYLT1, XT1, DBQD2 Xylosyltransferase 1 XYLT1 64131 ENSG00000103489 Desbuquois dysplasia 2, 615777 (3), Autosomal recessive; {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive Xylt1 (MGI:2451073) -chr16 18499926 18562142 16p12.3 16p12.3 609158 NOMO2 Nodal modulator 2 NOMO2 283820 ENSG00000185164 Nomo1 (MGI:2385850) -chr16 18781294 18790333 16p12.3 16p12.3 603674 RPS15A, DBA20 Ribosomal protein S15a RPS15A 6210 ENSG00000134419 mutation identified in 1 DBA20 family ?Diamond-Blackfan anemia 20, 618313 (3), Autosomal dominant Rps15a (MGI:2389091) -chr16 18791666 18801548 16p12-p11.2 16p12.3 607669 ARL6IP1, KIAA0069, SPG61 ADP ribosylation factor-like GTPase 6 interacting protein 1 ARL6IP1 23204 ENSG00000170540 mutation identified in 1 family ?Spastic paraplegia 61, autosomal recessive, 615685 (3), Autosomal recessive Arl6ip1 (MGI:1858943) -chr16 18804857 18926427 16p12 16p12.3 607032 SMG1, LIP, KIAA0421 SMG1 nonsense-mediated mRNA decay-associated PI3K-related kinase SMG1 23049 ENSG00000157106 Smg1 (MGI:1919742) -chr16 18983933 19063941 16p12.3 16p12.3 617198 TMC7 Transmembrane channel-like protein 7 TMC7 79905 ENSG00000170537 Tmc7 (MGI:2443317) -chr16 19067594 19080094 16p13.1-p12 16p12.3 601683 COQ7, CLK1, COQ10D8 COQ7, S. cerevisiae, homolog of COQ7 10229 ENSG00000167186 mutation identified in 1 COQ10D8 patient ?Coenzyme Q10 deficiency, primary, 8, 616733 (3), Autosomal recessive Coq7 (MGI:107207) -chr16 19410538 19499112 16p12.3 16p12.3 617197 TMC5 Transmembrane channel-like protein 5 TMC5 79838 ENSG00000103534 Tmc5 (MGI:1921674) -chr16 19501692 19522097 16p12-p11.2 16p12.3 605943 GDE1, MIR16 Glycerophosphodiester phosphodiesterase 1 GDE1 51573 ENSG00000006007 Gde1 (MGI:1891827) -chr16 19523878 19553407 16p12.3 16p12.3 609544 CCP110, CP110, KIAA0419 Centrosomal coiled-coil protein, 110kD CCP110 9738 ENSG00000103540 Ccp110 (MGI:2141942) -chr16 19555702 19701162 16p12.3 16p12.3 618981 VPS36L, C16orf62, EC97, RTSC3 VPS35 endosomal protein-sorting factor-like VPS35L 57020 ENSG00000103544 Ritscher-Schinzel syndrome 3, 619135 (3), Autosomal recessive Vps35l (MGI:1918767) -chr16 19856690 19886044 16p12.3-p12.1 16p12.3 605948 GPRC5B, RAIG2 G protein-coupled receptor, family C, group 5, member B GPRC5B 51704 ENSG00000167191 Gprc5b (MGI:1927596) -chr16 20028238 20073889 16p12.3 16p12.3 618448 GPR139, GPRG1 G protein-coupled receptor 139 GPR139 124274 ENSG00000180269 Gpr139 (MGI:2685341) -chr16 20309573 20327512 16p12.3 16p12.3 602977 GP2 Glycoprotein 2, zymogen granule membrane GP2 2813 ENSG00000169347 previously assigned to chr.9 Gp2 (MGI:1914383) -chr16 20333050 20356300 16p12.3 16p12.3 191845 UMOD, ADTKD1 Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) UMOD 7369 ENSG00000169344 Tubulointerstitial kidney disease, autosomal dominant, 1, 162000 (3), Autosomal dominant Umod (MGI:102674) -chr16 20359170 20404741 16p12.3 16p12.3 618588 PDILT, PDIA7 Protein disulfide isomerase-like protein, testis-expressed, 618588 (3) PDILT 204474 ENSG00000169340 Pdilt (MGI:1919080) -chr16 20409533 20441335 16p12.3 16p12.3 614361 ACSM5 Acyl-CoA synthetase medium-chain family, member 5 ACSM5 54988 ENSG00000183549 Acsm5 (MGI:2444086) -chr16 20451503 20487668 16p12.3 16p12.3 614358 ACSM2A Acyl-CoA synthetase medium-chain family, member 2A ACSM2A 123876 ENSG00000183747 Acsm2 (MGI:2385289) -chr16 20536225 20576375 16p12.3 16p12.3 614359 ACSM2B, HXMA Acyl-CoA synthetase medium-chain family, member 2B ACSM2B 348158 ENSG00000066813 Acsm2 (MGI:2385289) -chr16 20623234 20697679 16p12.3 16p12.3 614357 ACSM1, MACS1 Acyl-CoA synthetase medium-chain family, member 1 ACSM1 116285 ENSG00000166743 Acsm1 (MGI:2152200) -chr16 20730588 20741829 16p12.3 16p12.3 616662 THUMPD1 THUMP domain-containing protein 1 THUMPD1 55623 ENSG00000066654 Thumpd1 (MGI:2444479) -chr16 20742439 20797810 16p13.11 16p12.3 145505 ACSM3, SAH Acyl-CoA synthetase medium-chain family member 3 ACSM3 6296 ENSG00000005187 {?Hypertension, essential} (1) Acsm3 (MGI:99538) -chr16 20854924 20900357 16p12.3 16p12.3 616167 DCUN1D3, SCCRO3 DCN1 domain-containing protein 3 DCUN1D3 123879 ENSG00000188215 Dcun1d3 (MGI:2679003) -chr16 20899625 20925005 16p12.3 16p12.3 614709 LYRM1 LYR motif-containing protein 1 LYRM1 57149 ENSG00000102897 Lyrm1 (MGI:1921169) -chr16 20933110 21159536 16p12 16p12.3 603334 DNAH3, DNAHC3B Dynein, axonemal, heavy chain 3 DNAH3 55567 ENSG00000158486 Dnah3 (MGI:2683040) -chr16 21158348 21180615 16p12.3 16p12.3 611304 TMEM159 Transmembrane protein 159 LDAF1 57146 ENSG00000011638 Tmem159 (MGI:1925752) -chr16 21197449 21214509 16p12 16p12.3-p12.2 182888 ZP2, OOMD6 Zona pellucida glycoprotein 2 ZP2 7783 ENSG00000103310 Oocyte maturation defect 6, 618353 (3), Autosomal recessive Zp2 (MGI:99214) -chr16 21200000 35300000 16p12.2-p11.2 613604 DEL16p12.1p11.2, C16DELp12.1p11.2 Chromosome 16p12.2-p11.2 deletion syndrome 17.1-8.7 Mb contiguous gene deletion syndrome Chromosome 16p12.2-p11.2 deletion syndrome, 613604 (4), Isolated cases -chr16 21200000 52600000 16p12.2-q12.1 611096 MRT10, MRT20 611096 100101425 between rs724466 and rs3901517, rs7197568 and rs71972227 Mental retardation, autosomal recessive 10/20, 611096 (2), Autosomal recessive -chr16 21233698 21253849 16p12.2 16p12.2 609901 ANKS4B, HARP, FLJ38819 Ankyrin repeat and sterile alpha motif domain-containing protein 4B ANKS4B 257629 ENSG00000175311 Anks4b (MGI:1919324) -chr16 21258520 21303061 16p13.11-p12.3 16p12.2 123740 CRYM, DFNA40 Crystallin, mu CRYM 1428 ENSG00000103316 Deafness, autosomal dominant 40, 616357 (3), Autosomal dominant Crym (MGI:102675) -chr16 21597207 21657470 16p12.2 16p12.2 609388 METTL9, DREV Methyltransferase-like 9 METTL9 51108 ENSG00000197006 Mettl9 (MGI:1914862) -chr16 21639549 21652607 16p13 16p12.2 606222 IGSF6, DORA Immunoglobulin superfamily, member 6 IGSF6 10261 ENSG00000140749 Igsf6 (MGI:1891393) -chr16 21663967 21762624 16p12.2 16p12.2 607038 OTOA, DFNB22 Otoancorin OTOA 146183 ENSG00000155719 Deafness, autosomal recessive 22, 607039 (3), Autosomal recessive Otoa (MGI:2149209) -chr16 21953360 21983659 16p12 16p12.2 191329 UQCRC2, MC3DN5 Ubiquinol-cytochrome c reductase core protein II UQCRC2 7385 ENSG00000140740 Mitochondrial complex III deficiency, nuclear type 5, 615160 (3), Autosomal recessive Uqcrc2 (MGI:1914253) -chr16 22206277 22288737 Chr.16 16p12.2 606968 EEF2K Elongation factor 2 kinase EEF2K 29904 ENSG00000103319 Eef2k (MGI:1195261) -chr16 22297408 22335095 16p12.2 16p12.2 617815 POLR3E, SIN, KIAA1452 Polymerase III, RNA, subunit E POLR3E 55718 ENSG00000058600 Polr3e (MGI:1349452) -chr16 22345935 22374618 16p13.1-p12 16p12.2 117340 CDR2 Cerebellar degeneration-related antigen-2, 62kD CDR2 1039 ENSG00000140743 Cdr2 (MGI:1100885) -chr16 22814161 22916337 16p12 16p12.2 604056 HS3ST2, 30ST2 Heparan sulfate-glucosamine 3-sulfotransferase 2 HS3ST2 9956 ENSG00000122254 Hs3st2 (MGI:1333802) -chr16 23182744 23216882 16p13-p12 16p12.2 600761 SCNN1G, PHA1, BESC3, LDLS2 Sodium channel, epithelial 1, subunit gamma SCNN1G 6340 ENSG00000166828 same 400kb fragment as SCNN1B Bronchiectasis with or without elevated sweat chloride 3, 613071 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive; Liddle syndrome 2, 618114 (3), Autosomal dominant Scnn1g (MGI:104695) -chr16 23278230 23381294 16p13-p12 16p12.2 600760 SCNN1B, BESC1, LIDLS1 Sodium channel, epithelial 1, subunit beta SCNN1B 6338 ENSG00000168447 Bronchiectasis with or without elevated sweat chloride 1, 211400 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive; Liddle syndrome 1, 177200 (3), Autosomal dominant Scnn1b (MGI:104696) -chr16 23388492 23453214 16p 16p12.2 606978 COG7, CDG2E Component of oligomeric golgi complex 7 COG7 91949 ENSG00000168434 Congenital disorder of glycosylation, type IIe, 608779 (3), Autosomal recessive Cog7 (MGI:2685013) -chr16 23463541 23510493 16p12.2 16p12.2 606005 GGA2, VEAR Golgi-associated, gamma-adaptin ear-containing, ARF-binding protein 2 GGA2 23062 ENSG00000103365 Gga2 (MGI:1921355) -chr16 23520753 23557374 16p13.1-p11.2 16p12.2 612799 EARS2, KIAA1970, COXPD12 Glutamyl-tRNA synthetase 2 EARS2 124454 ENSG00000103356 Combined oxidative phosphorylation deficiency 12, 614924 (3), Autosomal recessive Ears2 (MGI:1914667) -chr16 23581011 23596328 16p12.3-p12.1 16p12.2 603836 NDUFAB1 NADH-ubiquinone oxidoreductase subunit AB1 NDUFAB1 4706 ENSG00000004779 Ndufab1 (MGI:1917566) -chr16 23603161 23641336 16p12 16p12.2 610355 PALB2, FANCN, PNCA3 Partner and localizer of BRCA2 PALB2 79728 ENSG00000083093 {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; {Pancreatic cancer, susceptibility to, 3}, 613348 (3); Fanconi anemia, complementation group N, 610832 (3) Palb2 (MGI:3040695) -chr16 23641430 23677471 16p12.2 16p12.2 612962 DCTN5, p25 Dynactin 5 DCTN5 84516 ENSG00000166847 Dctn5 (MGI:1891689) -chr16 23678888 23690366 16p12.2 16p12.2 602098 PLK1, STPK13 Polo-like kinase 1 PLK1 5347 ENSG00000166851 Plk1 (MGI:97621) -chr16 23690309 23713247 16p12.2 16p12.2 604034 ERN2 Endoplasmic reticulum-to-nucleus signaling 2 ERN2 10595 ENSG00000134398 Ern2 (MGI:1349436) -chr16 23835982 24220610 16p11.2 16p12.2-p12.1 176970 PRKCB1, PKCB Protein kinase C, beta 1 polypeptide PRKCB 5579 ENSG00000166501 Prkcb (MGI:97596) -chr16 24200000 28500000 16p12 136570 DEL16p12.1, C16DELp12.1 Chromosome 16p12.1 deletion syndrome, 520kb between 21.85-22.37 Mb Chromosome 16p12.1 deletion syndrome, 520kb, 136570 (4) -chr16 24200000 28500000 16p12 611247 MAFD4, BPAD Major affective disorder 4 100126593 max lod at D16S769 Major affective disorder 4, 611247 (2) -chr16 24200000 35300000 16p12.1-p11.2 157700 MMVP1, MVP, PMV Mitral valve prolapse, myxomatous 1 50951 Mitral valve prolapse, myxomatous 1, 157700 (2), Autosomal dominant -chr16 24256334 24362411 16p13.1-p12 16p12.1 606403 CACNG3 Calcium channel, voltage-dependent, gamma-3 subunit CACNG3 10368 ENSG00000006116 Cacng3 (MGI:1859165) -chr16 24539565 24572862 16p12-p11.2 16p12.1 600938 RBBP6 Retinoblastoma-binding protein-6 RBBP6 5930 ENSG00000122257 Rbbp6 (MGI:894835) -chr16 24610204 24826222 16p12 16p12.1 610739 TNRC6A, GW182, KIAA1460, FAME6 Trinucleotide repeat-containing gene 6A TNRC6A 27327 ENSG00000090905 mutation identified in 1 FAME6 family ?Epilepsy, familial adult myoclonic, 6, 618074 (3), Autosomal dominant Tnrc6a (MGI:2385292) -chr16 24845962 24911625 16p12.1 16p12.1 610238 SLC5A11, KST1, SGLT6, SMIT2 Solute carrier family 5 (sodium/glucose cotransporter), member 11 SLC5A11 115584 ENSG00000158865 Slc5a11 (MGI:1919316) -chr16 24919388 25015600 16p12.2 16p12.1 608293 ARHGAP17, RICH1 RHO GTPase-activating protein 17 ARHGAP17 55114 ENSG00000140750 Arhgap17 (MGI:1917747) -chr16 25111701 25178230 16p12.3-p12.1 16p12.1 610286 LCMT1 Leucine carboxyl methyltransferase 1 LCMT1 51451 ENSG00000205629 Lcmt1 (MGI:1353593) -chr16 25216916 25228931 16p12-p11.2 16p12.1 603750 AQP8 Aquaporin 8 AQP8 343 ENSG00000103375 Aqp8 (MGI:1195271) -chr16 25691958 26137684 16p11.2 16p12.1 604059 HS3ST4, 30ST4 Heparan sulfate-glucosamine 3-sulfotransferase 4 HS3ST4 9951 ENSG00000182601 Hs3st4 (MGI:1333792) -chr16 27203485 27222304 16p12.1 16p12.1 611917 KDM8, JMJD5 Lysine demethylase 8 KDM8 79831 ENSG00000155666 Kdm8 (MGI:1924285) -chr16 27224993 27268771 16p12.1 16p12.1 617263 NSMCE1, NSE1 NSE1 homolog, SMC5-SMC6 complex component NSMCE1 197370 ENSG00000169189 Nsmce1 (MGI:1914961) -chr16 27313667 27364777 16p12.1-p11.2 16p12.1 147781 IL4R, IL4RA Interleukin-4 receptor IL4R 3566 ENSG00000077238 {AIDS, slow progression to}, 609423 (3); {Atopy, susceptibility to}, 147050 (3), Autosomal dominant Il4ra (MGI:105367) -chr16 27402161 27452042 16p11 16p12.1 605383 IL21R, IMD56 Interleukin 21 receptor IL21R 50615 ENSG00000103522 fusion partner with BCL6 [IgE, elevated level of], 147050 (3), Autosomal dominant; Immunodeficiency 56, 615207 (3), Autosomal recessive Il21r (MGI:1890475) -chr16 27460612 27549921 16p12.1 16p12.1 603246 GTF3C1 General transcription factor 3C, polypeptide 1 GTF3C1 2975 ENSG00000077235 Gtf3c1 (MGI:107887) -chr16 27550127 27780370 16p12.1 16p12.1 616650 KATNIP, KIAA0556 Katanin-interacting protein KATNIP 23247 ENSG00000047578 Joubert syndrome 26, 616784 (3), Autosomal recessive Katnip (MGI:2442760) -chr16 27787527 28063713 16p12.1 16p12.1 617161 GSG1L GSG1-like protein GSG1L 146395 ENSG00000169181 Gsg1l (MGI:2685483) -chr16 28097975 28212030 16p12.1 16p12.1 608411 XPO6, EXP6, KIAA0370 Exportin 6 XPO6 23214 ENSG00000169180 Xpo6 (MGI:2429950) -chr16 28466652 28492081 16p12.1 16p12.1 607042 CLN3, BTS CLN3 lysosomal/endosomal transmembrane protein, Battenin CLN3 1201 ENSG00000188603 Ceroid lipofuscinosis, neuronal, 3, 204200 (3), Autosomal recessive Cln3 (MGI:107537) -chr16 28494642 28498963 16p11.2 16p12.1 605220 APOBR, APOB48R Apolipoprotein B receptor APOBR 55911 ENSG00000184730 Apobr (MGI:2176230) -chr16 28499361 28526729 16p11 16p12.1-p11.2 608273 IL27, IL30 Interleukin 27 IL27 246778 ENSG00000197272 Il27 (MGI:2384409) -chr16 28500000 35300000 16p11.2 613444 BMIQ16, DEL16p.11.2, C16DELp11.2 Chromosome 16p11.2 deletion syndrome, 220kb Chromosome 16p11.2 deletion syndrome, 220kb, 613444 (4); [Body mass index QTL16], 613444 (4) -chr16 28500000 35300000 16p11.2 611913 DEL16p11.2, C16DELp11.2, AUTS14A Chromosome 16p11.2 deletion syndrome, 593kb {Autism susceptibility 14A}, 611913 (2); Chromosome 16p11.2 deletion syndrome, 593kb, 611913 (4) -chr16 28500000 35300000 16p11.2 614671 DUP16p11.2, C16DUPp11.2, AUTS14B Chromosome 16p11.2 duplication syndrome Chromosome 16p11.2 duplication syndrome, 614671 (4); {Autism, susceptibility to, 14B}, 614671 (2) -chr16 28532707 28538973 16p11.2 16p11.2 614812 NUPR1, COM1, p8 Nuclear protein, transcriptional regulator, 1 NUPR1 26471 ENSG00000176046 Nupr1 (MGI:1891834) -chr16 28553914 28591789 16p11.2 16p11.2 613374 CCDC101, STAF36 Coiled-coil domain-containing protein 101 SGF29 112869 ENSG00000176476 Sgf29 (MGI:1922815) -chr16 28591942 28597069 16p12.1-p11.2 16p11.2 601292 SULT1A2, STP2 Sulfotransferase family 1A, phenol-preferring, member 2 SULT1A2 6799 ENSG00000197165 45kb from STP1 Sult1a1 (MGI:102896) -chr16 28605257 28623394 16p12.1-p11.2 16p11.2 171150 SULT1A1, STP1, STP, PST Sulfotransferase family 1A, phenol-preferring, member 1 SULT1A1 6817 ENSG00000196502 Sult1a1 (MGI:102896) -chr16 28688557 28735729 16p11.2 16p11.2 603916 EIF3C, EIF3S8 Eukaryotic translation initiation factor 3, subunit C EIF3C 8663 ENSG00000184110 Eif3c (MGI:1926966) -chr16 28822998 28837236 16p11 16p11.2 607931 ATXN2L, A2D Ataxin 2-like ATXN2L 11273 ENSG00000168488 pseudogene at 7p21 Atxn2l (MGI:2446242) -chr16 28842410 28846347 16p11.2 16p11.2 602389 TUFM, EFTU, COXPD4 Tu translation elongation factor, mitochondrial TUFM 7284 ENSG00000178952 pseudogene on chr.17 Combined oxidative phosphorylation deficiency 4, 610678 (3), Autosomal recessive Tufm (MGI:1923686) -chr16 28846605 28874204 16p11.2 16p11.2 608937 SH2B1, SH2B, KIAA1299 SH2B adaptor protein 1 SH2B1 25970 ENSG00000178188 Sh2b1 (MGI:1201407) -chr16 28878487 28904465 16p12 16p11.2 108730 ATP2A1, SERCA1 ATPase, Ca++ transporting, fast-twitch, 1 ATP2A1 487 ENSG00000196296 Brody myopathy, 601003 (3), Autosomal recessive Atp2a1 (MGI:105058) -chr16 28904420 28925237 16p11.2 16p11.2 611869 RABEP2 RAB GTPase-binding effector protein 2 RABEP2 79874 ENSG00000177548 Rabep2 (MGI:1917564) -chr16 28931734 28939346 16p11.2 16p11.2 107265 CD19, CVID3 CD19 antigen CD19 930 ENSG00000177455 Immunodeficiency, common variable, 3, 613493 (3), Autosomal recessive Cd19 (MGI:88319) -chr16 28950936 28967091 16p11.2 16p11.2 614525 NFATC2IP, NIP45 NFATC2-interacting protein NFATC2IP 84901 ENSG00000176953 Nfatc2ip (MGI:1329015) -chr16 28973998 28984768 16p11.2 16p11.2 612583 SPNS1, SPIN1 Spinster, Drosophila, homolog of, 1 SPNS1 83985 ENSG00000169682 Spns1 (MGI:1920908) -chr16 28984802 28990783 16p11.2 16p11.2 602354 LAT, IMD52 Linker for activation of T cells LAT 27040 ENSG00000213658 Immunodeficiency 52, 617514 (3), Autosomal recessive Lat (MGI:1342293) -chr16 29453587 29454963 16p11.2 16p11.2 613182 BOLA2 bolA family member 2 BOLA2 552900 ENSG00000183336 Bola2 (MGI:1913412) -chr16 29454500 29458218 16p11.2 16p11.2 615823 SLX1B, GIYD2 SLX1 homolog B, structure-specific endonuclease subunit SLX1B 79008 ENSG00000181625 Slx1b (MGI:1915220) -chr16 29459912 29464965 16p11.2 16p11.2 615819 SULT1A4 Sulfotransferase family 1A, cytosolic, phenol-preferring, member 4 SULT1A4 445329 ENSG00000213648 Sult1a1 (MGI:102896) -chr16 29662962 29670875 16p11.2 16p11.2 182160 SPN, LSN, CD43 Sialophorin (leukosialin) SPN 6693 ENSG00000197471 Spn (MGI:98384) -chr16 29670587 29698698 16p11.2 16p11.2 606248 QPRT Quinolinate phosphoribosyltransferase QPRT 23475 ENSG00000103485 Qprt (MGI:1914625) -chr16 29760803 29782972 16p11.2 16p11.2 617311 ZG16, ZG16A, JCLN1 Zymogen granule protein, 16-kD ZG16 653808 ENSG00000174992 Zg16 (MGI:1916286) -chr16 29790733 29805542 16p11.2 16p11.2 603213 KIF22, KNSL4, KID, OBP, SEMDJL2 Kinesin family member 22 KIF22 3835 ENSG00000079616 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3), Autosomal dominant Kif22 (MGI:109233) -chr16 29806080 29811170 16p11.2 16p11.2 600999 MAZ, ZF87, PUR1 MYC-associated zinc finger protein MAZ 4150 ENSG00000103495 Maz (MGI:1338823) -chr16 29812192 29815919 16p11.2 16p11.2 614386 PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA Proline-rich transmembrane protein 2 PRRT2 112476 ENSG00000167371 Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3), Autosomal dominant; Seizures, benign familial infantile, 2, 605751 (3), Autosomal dominant; Episodic kinesigenic dyskinesia 1, 128200 (3), Autosomal dominant Prrt2 (MGI:1916267) -chr16 29816151 29822488 16p11.2 16p11.2 612033 PAGR1, C16orf53, PA1 PAXIP1-associated glutamate-rich protein 1 PAGR1 79447 ENSG00000280789 Pagr1a (MGI:1914528) -chr16 29820393 29848038 16p13.1-p11.2 16p11.2 605088 MVP, LRP Major vault protein MVP 9961 ENSG00000013364 Mvp (MGI:1925638) -chr16 29858356 29863225 16p11.2 16p11.2 605893 CDIPT, PIS1 CDP-diacylglycerol-inositol 3-phosphatidyltransferase CDIPT 10423 ENSG00000103502 Cdipt (MGI:105491) -chr16 29871158 29899549 16p11.2 16p11.2 616667 SEZ6L2, BSRPA SEZ6-like protein 2 SEZ6L2 26470 ENSG00000174938 Sez6l2 (MGI:2385295) -chr16 29906334 29926225 16p11.2 16p11.2 608947 KCTD13, POLDIP1, FKSG86 Potassium channel tetramerization domain-containing 13 KCTD13 253980 ENSG00000174943 Kctd13 (MGI:1923739) -chr16 29973867 29992260 16p13.1-p12 16p11.2 613199 TAOK2, TAO2, KIAA0881, PSK, PSK1 Tao kinase 2 TAOK2 9344 ENSG00000149930 Taok2 (MGI:1915919) -chr16 29992320 29996095 16p11.2 16p11.2 603365 HIRIP3 HIRA-interacting protein 3 HIRIP3 8479 ENSG00000149929 Hirip3 (MGI:2142364) -chr16 30005513 30023279 16p11.2 16p11.2 604567 DOC2A Double C2-like domain-containing protein, alpha DOC2A 8448 ENSG00000149927 Doc2a (MGI:109446) -chr16 30023197 30027735 16p11.2 16p11.2 618911 C16orf92, FIMP Chromosome 16 open reading frame 92 C16orf92 146378 ENSG00000167194 4930451I11Rik (MGI:1925368) -chr16 30024425 30053025 16p11.2 16p11.2 615175 FAM57B Family with sequence similarity 57, member B TLCD3B 83723 ENSG00000149926 Tlcd3b (MGI:1916202) -chr16 30064278 30070419 16p11.2 16p11.2 103850 ALDOA, GSD12 Aldolase A, fructose-bisphosphatase ALDOA 226 ENSG00000149925 pseudogenes on 3 and 10 Glycogen storage disease XII, 611881 (3), Autosomal recessive Aldoart1,Aldoart2,Aldoa (MGI:2447811,MGI:1931052,MGI:87994) -chr16 30075993 30085376 16p12-p11 16p11.2 602035 PPP4C, PP4, PPX Protein phosphatase 4, catalytic subunit PPP4C 5531 ENSG00000149923 Ppp4c (MGI:1891763) -chr16 30085792 30091926 16p11.2 16p11.2 602427 TBX6, SCDO5 T-box 6 TBX6 6911 ENSG00000149922 Spondylocostal dysostosis 5, 122600 (3), Autosomal dominant, Autosomal recessive Tbx6 (MGI:102539) -chr16 30092313 30096212 16p11.2 16p11.2 609724 YPEL3 Yippee-like 3 YPEL3 83719 ENSG00000090238 Ypel3 (MGI:1913340) -chr16 30104809 30113536 16p11.2 16p11.2 616318 GDPD3, GDE7 Glycerophosphodiester phosphodiesterase domain-containing protein 3 GDPD3 79153 ENSG00000102886 Gdpd3 (MGI:1915866) -chr16 30114104 30123308 16p11.2 16p11.2 601795 MAPK3, PRKM3, ERK1 Mitogen-activated protein kinase 3 MAPK3 5595 ENSG00000102882 Mapk3 (MGI:1346859) -chr16 30183601 30189075 16p11.2 16p11.2 605000 CORO1A, TACO, CLIPINA, IMD8 Coronin 1A CORO1A 11151 ENSG00000102879 Immunodeficiency 8, 615401 (3), Autosomal recessive Coro1a (MGI:1345961) -chr16 30193842 30197565 16p11.2 16p11.2 615822 SLX1A, GIYD1 SLX1 homolog A, structure-specific endonuclease subunit SLX1A 548593 ENSG00000132207 Slx1b (MGI:1915220) -chr16 30199254 30204309 16p11.2 16p11.2 600641 SULT1A3, STM Sulfotransferase family 1A, phenol-preferring, member 3 SULT1A3 6818 ENSG00000261052 Sult1a1 (MGI:102896) -chr16 30350772 30355307 16p11.2 16p11.2 604470 CD2BP2 CD2 antigen-binding protein 2 CD2BP2 10421 ENSG00000169217 Cd2bp2 (MGI:1917483) -chr16 30357101 30370493 16p11.2 16p11.2 613620 TBC1D10B TBC1 domain family, member 10B TBC1D10B 26000 ENSG00000169221 Tbc1d10b (MGI:1915699) -chr16 30370933 30377990 16p11.2 16p11.2 617378 MYLPF, MLC2B, MRLC2, MYL11, DA1C Myosin light chain, phosphorylatable, fast skeletal muscle MYLPF 29895 ENSG00000180209 Arthrogryposis, distal, type 1C, 619110 (3), Autosomal dominant, Autosomal recessive Mylpf (MGI:97273) -chr16 30378134 30382829 16p11.2 16p11.2 612897 SEPT1, DIFF6 Septin 1 SEPTIN1 1731 ENSG00000180096 Septin1 (MGI:1858916) -chr16 30423614 30430029 16p11.2 16p11.2 615840 DCTPP1 dCTP pyrophosphatase 1 DCTPP1 79077 ENSG00000179958 Dctpp1 (MGI:1913672) -chr16 30443630 30445873 16p11.2 16p11.2 606218 SEPHS2, SPS2 Selenophosphate synthetase 2 SEPHS2 22928 ENSG00000179918 Sephs2 (MGI:108388) -chr16 30472682 30523184 16p11.2 16p11.2 153370 ITGAL, CD11A, LFA1A Integrin, alpha-L (antigen CD11A (p180), lymphocyte function-associated antigen-1, alpha polypeptide) ITGAL 3683 ENSG00000005844 Itgal (MGI:96606) -chr16 30524003 30532366 16p11.2 16p11.2 618032 ZNF768 Zinc finger protein 768 ZNF768 79724 ENSG00000169957 Zfp768 (MGI:2384582) -chr16 30602557 30610774 16p11.2 16p11.2 618033 ZNF689, TIPUH1 Zinc finger protein 689 ZNF689 115509 ENSG00000156853 Zfp689 (MGI:1918381) -chr16 30650777 30656412 16p11.2 16p11.2 617423 PRR14 Proline-rich protein 14 PRR14 78994 ENSG00000156858 Prr14 (MGI:2384565) -chr16 30658430 30670809 16p11.2 16p11.2 608601 FBRS, FBS1 Fibrosin FBRS 64319 ENSG00000156860 Fbrs (MGI:104648) -chr16 30699170 30741408 16p11.2 16p11.2 611421 SRCAP, SWR1, KIAA0309, FLHS SNF2-related CBP activator protein SRCAP 10847 ENSG00000080603 Floating-Harbor syndrome, 136140 (3), Autosomal dominant Srcap (MGI:2444036) -chr16 30748424 30761175 16p12.1-p11.2 16p11.2 172471 PHKG2, GSD9C Phosphorylase kinase, gamma 2 (testis/liver) PHKG2 5261 ENSG00000156873 Glycogen storage disease IXc, 613027 (3), Autosomal recessive Phkg2 (MGI:1916211) -chr16 30757225 30762271 16p11.2 16p11.2 618318 CCDC189, C16orf93 Coiled-coil domain-containing protein 189 CCDC189 90835 ENSG00000196118 Ccdc189 (MGI:2685012) -chr16 30761611 30800230 16p11.2 16p11.2 607700 RNF40, BRE1B, RBP95, KIAA0661 Ring finger protein 40 RNF40 9810 ENSG00000103549 Rnf40 (MGI:2142048) -chr16 30833625 30894715 16p11 16p11.2 605847 BCL7C B-cell CLL/lymphoma 7C BCL7C 9274 ENSG00000099385 Bcl7c (MGI:1332237) -chr16 30895823 30903559 16p11.2-p11.1 16p11.2 600435 CTF1, CT1 Cardiotrophin 1 CTF1 1489 ENSG00000150281 Ctf1 (MGI:105115) -chr16 30922850 30948782 16p11.2 16p11.2 609085 FBXL19, FBL19 F-box and leucine-rich repeat protein 19 FBXL19 54620 ENSG00000099364 Fbxl19 (MGI:3039600) -chr16 30949067 30954937 16p11.2 16p11.2 610930 ORAI3, TMEM142C ORAI calcium release-activated calcium modulator 3 ORAI3 93129 ENSG00000175938 Orai3 (MGI:3039586) -chr16 30956617 30984663 16p11.2 16p11.2 611052 SETD1A, SET1A, SET1, KIAA0339, EPEDD, NEDSID SET domain-containing protein 1A SETD1A 9739 ENSG00000099381 Epilepsy, early-onset, with or without developmental delay, 618832 (3), Autosomal dominant; Neurodevelopmental disorder with speech impairment and dysmorphic facies, 619056 (3), Autosomal dominant Setd1a (MGI:2446244) -chr16 30985188 30989151 16p12-p11.2 16p11.2 607764 HSD3B7, CBAS1 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase HSD3B7 80270 ENSG00000099377 Bile acid synthesis defect, congenital, 1, 607765 (3), Autosomal recessive Hsd3b7 (MGI:2141879) -chr16 30989255 31010637 16p11.2 16p11.2 601485 STX1B, GEFSP9 Syntaxin 1B STX1B 112755 ENSG00000099365 Generalized epilepsy with febrile seizures plus, type 9, 616172 (3), Autosomal dominant Stx1b (MGI:1930705) -chr16 31033094 31040167 16p11.2 16p11.2 186591 STX4, STX4A Syntaxin 4 STX4 6810 ENSG00000103496 Stx4a (MGI:893577) -chr16 31060846 31074239 16p11.2 16p11.2 617103 ZNF668 Zinc finger protein 668 ZNF668 79759 ENSG00000167394 Zfp668 (MGI:2442943) -chr16 31073664 31084195 16p11.2 16p11.2 619299 ZNF646 Zinc finger protein ZNF646 9726 ENSG00000167395 Zfp646 (MGI:3665412) -chr16 31083423 31089651 16p11.2 16p11.2 610561 PRSS53, POL3S Protease, serine, 53 PRSS53 339105 ENSG00000151006 Prss53 (MGI:2652890) -chr16 31090853 31094796 16p11.2 16p11.2 608547 VKORC1, VKOR, VKCFD2, FLJ00289 Vitamin K epoxide reductase complex, subunit 1 VKORC1 79001 ENSG00000167397 Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3); Warfarin resistance, 122700 (3), Autosomal dominant Vkorc1 (MGI:106442) -chr16 31108380 31117650 16p11.2 16p11.2 614901 BCKDK, BDK, BCKDKD Branched-chain alpha-keto acid dehydrogenase kinase BCKDK 10295 ENSG00000103507 Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3) Bckdk (MGI:1276121) -chr16 31117663 31131392 16p11.2 16p11.2 609912 KAT8, MYST1, MOF, LIGOWS K(lysine) acetyltransferase 8 KAT8 84148 ENSG00000103510 Li-Ghorgani-Weisz-Hubshman syndrome, 618974 (3), Autosomal dominant Kat8 (MGI:1915023) -chr16 31131432 31135726 16p11.2 16p11.2 600823 PRSS8 Protease, serine, 8 (prostasin) PRSS8 5652 ENSG00000052344 Prss8 (MGI:1923810) -chr16 31138925 31150082 16p11.2 16p11.2 610560 PRSS36 Protease, serine, 36 PRSS36 146547 ENSG00000178226 Prss36 (MGI:1924863) -chr16 31180109 31194870 16p11.2 16p11.2 137070 FUS, TLS, ALS6, ETM4 Fusion, derived from 12-16 translocation, malignant liposarcoma FUS 2521 ENSG00000089280 fused with DDIT3 in myxoid liposarcoma, with ERG in leukemia, and ATF1 in angiomatoid fibrous histiocytoma Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3); Essential tremor, hereditary, 4, 614782 (3), Autosomal dominant Fus (MGI:1353633) -chr16 31201485 31202759 16p12-p11.2 16p11.2 606838 PYCARD, TMS1, ASC PYD and CARD domain-containing protein (target of methylation-induced silencing 1) PYCARD 29108 ENSG00000103490 Pycard (MGI:1931465) -chr16 31214118 31231536 16p11.2 16p11.2 613288 TRIM72, MG53 Tripartite motif-containing protein 72 TRIM72 493829 ENSG00000177238 Trim72 (MGI:3612190) -chr16 31215961 31217134 16p12.1 16p11.2 615700 PYDC1, POP1, PYC1, ASC2 Pyrin domain-containing protein 1 PYDC1 260434 ENSG00000169900 -chr16 31259974 31332876 16p11.2 16p11.2 120980 ITGAM, CR3A, CD11B, MAC1A, SLEB6 Integrin, alpha-M (complement component receptor-3, alpha; antigen CD11B (p170); macrophage antigen, alpha polypeptide) ITGAM 3684 ENSG00000169896 ?in same restriction fragment as LFA1A Itgam (MGI:96607) -chr16 31355166 31382998 16p11.2 16p11.2 151510 ITGAX, CD11C Integrin, alpha-X (antigen CD11C (p150), alpha polypeptide) ITGAX 3687 ENSG00000140678 Itgax (MGI:96609) -chr16 31393222 31426512 16p11.2 16p11.2 602453 ITGAD, CD11D Integrin, alpha D ITGAD 3681 ENSG00000156886 Itgad (MGI:3578624) -chr16 31427730 31428359 16p11.2 16p11.2 602009 COX6A2, MC4DN18 Cytochrome c oxidase, subunit 6A2 COX6A2 1339 ENSG00000156885 Mitochondrial complex IV deficiency, nuclear type 18, 619062 (3), Autosomal recessive Cox6a2 (MGI:104649) -chr16 31458272 31467166 16p11.2 16p11.2 615549 ARMC5, AIMAH2 Armadillo repeat-containing protein 5 ARMC5 79798 ENSG00000140691 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3), Somatic mutation, Autosomal dominant Armc5 (MGI:2384586) -chr16 31472151 31477959 16p11.2 16p11.2 602353 TGFB1I1, ARA55, HIC5 Transforming growth factor, beta-1-induced 1 TGFB1I1 7041 ENSG00000140682 Tgfb1i1 (MGI:102784) -chr16 31482534 31490768 16p11.2 16p11.2 182381 SLC5A2, SGLT2 Solute carrier family 5 (sodium/glucose cotransporter), member 2 SLC5A2 6524 ENSG00000140675 Renal glucosuria, 233100 (3), Autosomal dominant, Autosomal recessive Slc5a2 (MGI:2181411) -chr16 31527899 31528802 16p11.2 16p11.2 605821 ERAF, EDRF, AHSP Erythroid-associated factor (alpha-hemoglobin stabilizing protein) AHSP 51327 ENSG00000169877 Ahsp (MGI:2158492) -chr16 31873806 31917356 Chr.16 16p11.2 604752 ZNF267, HZF2 Zinc finger protein-167 ZNF267 10308 ENSG00000185947 Zfp600,Zfp267 (MGI:1098769,MGI:3705222) -chr16 32673518 32676128 16p13 16p11.2 617482 TP53TG3 TP53 target gene 3 TP53TG3 24150 ENSG00000183632 -chr16 35300000 36800000 16p11 615835 INV16p11 Chromosome 16p11 inversion (0.45Mb) -chr16 36800000 74100000 16q11.1-q22 126900 DUPC1 Dupuytren contracture 1 780895 max lod at D16S415 Dupuytren contracture 1, 126900 (2), Autosomal dominant -chr16 36800000 90338345 16q 610707 PSORS8 Psoriasis susceptibility 8 140454 proximal to D16S3034 {Psoriasis susceptibility 8}, 610707 (2) -chr16 36800000 90338345 16q 606711 SLI1 Specific language impairment QTL, 1 171013 Specific language impairment QTL, 1, 606711 (2), Multifactorial -chr16 36800000 90338345 16q 194090 WT3 Wilms tumor-3 8136 loss of heterozygosity Wilms tumor, type 3, 194090 (2), Autosomal dominant -chr16 38400000 74100000 16q11-q22 610753 AA2 Alopecia areata 2 100034703 max lod at D16S415 Alopecia areata 2, 610753 (2), Autosomal dominant, Autosomal recessive -chr16 46578590 46621378 16q11.2 16q11.2 611027 SHCBP1, PAL SHC SH2 domain-binding protein 1 SHCBP1 79801 ENSG00000171241 Shcbp1 (MGI:1338802) -chr16 46656131 46689193 16q11.2 16q11.2 601501 VPS35, MEM3, PARK17 VPS35 retromer complex component VPS35 55737 ENSG00000069329 {Parkinson disease 17}, 614203 (3), Autosomal dominant Vps35 (MGI:1890467) -chr16 46689655 46698393 16q12 16q11.2 607213 ORC6, ORC6L Origin recognition complex, subunit 6 ORC6 23594 ENSG00000091651 Meier-Gorlin syndrome 3, 613803 (3), Autosomal recessive Orc6 (MGI:1929285) -chr16 46702281 46763245 16q11.2 16q11.2 612147 MYLK3, MLCK Myosin light chain kinase 3 MYLK3 91807 ENSG00000140795 Mylk3 (MGI:2443063) -chr16 46884361 46931288 16q12.1 16q11.2 138210 GPT2, ALT2, NEDSPM Glutamate pyruvate transaminase 2 GPT2 84706 ENSG00000166123 Neurodevelopmental disorder with microcephaly and spastic paraplegia, 616281 (3), Autosomal recessive Gpt2 (MGI:1915391) -chr16 46955361 46973673 16q12.1 16q11.2 611322 DNAJA2, DJ3, CPR3 DNAJ/HSP40 homolog, subfamily A, member 2 DNAJA2 10294 ENSG00000069345 Dnaja2 (MGI:1931882) -chr16 47000000 52600000 16q12.1 602639 STHAG2, HYD2 Tooth agenesis, selective, 2 8137 Tooth agenesis, selective, 2, 602639 (2) -chr16 47000000 79200000 16q12.1-q23.1 614668 STUT4 Stuttering, familial persistent, 4 100909385 max lod at D16S3043 Stuttering, familial persistent, 4, 614668 (2) -chr16 47077702 47144024 16q11 16q12.1 607974 NEOT2 Neuropilin and tolloid like 2 NETO2 81831 ENSG00000171208 Neto2 (MGI:1921763) -chr16 47154390 47461245 16q12.1 16q12.1 611803 ITFG1, TIP Integrin-alpha FG-gap repeat-containing protein 1 ITFG1 81533 ENSG00000129636 Itfg1 (MGI:106419) -chr16 47461298 47701522 16q12-q13 16q12.1 172490 PHKB Phosphorylase kinase, beta polypeptide PHKB 5257 ENSG00000102893 Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3), Autosomal recessive Phkb (MGI:97578) -chr16 48080881 48155992 16q12.1 16q12.1 607041 ABCC12, MRP9 ATP-binding cassette, subfamily C, member 12 ABCC12 94160 ENSG00000140798 Abcc12 (MGI:2441679) -chr16 48164841 48249972 16q12.1 16q12.1 607040 ABCC11, MRP8, EWWD, WW ATP-binding cassette, subfamily C, member 11 ABCC11 85320 ENSG00000121270 [Axillary odor, variation in], 117800 (3), Autosomal dominant; [Earwax, wet/dry], 117800 (3), Autosomal dominant; [Colostrum secretion, variation in], 117800 (3), Autosomal dominant -chr16 48244299 48363002 16q12.1 16q12.1 617774 LONP2, PLON, PSLON LON peptidase 2, peroxisomal LONP2 83752 ENSG00000102910 Lonp2 (MGI:1914137) -chr16 48354580 48448434 16q12 16q12.1 602212 SIAH1, BURHAS Seven in absentia, Drosophila, homolog of, 1 SIAH1 6477 ENSG00000196470 Buratti-Harel syndrome, 619314 (3), Autosomal dominant Siah1b,Siah1a (MGI:108063,MGI:108064) -chr16 48538725 48610213 16q12.1 16q12.1 619138 N4BP1, KIAA0615 NEDD4-binding protein 1 N4BP1 9683 ENSG00000102921 N4bp1 (MGI:2136825) -chr16 49277916 49281837 16q12.1 16q12.1 600432 CBLN1 Precerebellin 1 CBLN1 869 ENSG00000102924 Cbln1 (MGI:88281) -chr16 49487523 49857918 16q12 16q12.1 604557 ZNF423, ZFP423, OAZ, KIAA0760, NPHP14, JBTS19 Zinc finger protein 423 ZNF423 23090 ENSG00000102935 Nephronophthisis 14, 614844 (3), Autosomal dominant, Autosomal recessive; Joubert syndrome 19, 614844 (3), Autosomal dominant, Autosomal recessive Zfp423 (MGI:1891217) -chr16 50025224 50037080 16q12.1 16q12.1 616869 CNEP1R1, NEP1R1, TMEM188 C-terminal domain nuclear envelope phosphatase 1 regulatory subunit 1 CNEP1R1 255919 ENSG00000205423 Cnep1r1 (MGI:1921981) -chr16 50065940 50107271 16q12.1 16q12.1 614951 HEATR3, SYO1 HEAT repeat-containing protein 3 HEATR3 55027 ENSG00000155393 Heatr3 (MGI:2444491) -chr16 50152910 50235309 16q12.1 16q12.1 605540 TENT4B, PAPD5, TUT3 Terminal nucleotidyltransferase 4B TENT4B 64282 ENSG00000121274 Tent4b (MGI:1917820) -chr16 50246137 50318134 16q12-q13 16q12.1 600385 ADCY7 Adenylate cyclase-7 ADCY7 113 ENSG00000121281 Adcy7 (MGI:102891) -chr16 50315956 50368987 16q12.1 16q12.1 618489 BRD7, BP75 Bromodomain-containing protein 7 BRD7 29117 ENSG00000166164 Brd7 (MGI:1349766) -chr16 50548395 50649248 16q12 16q12.1 607851 NKD1 NKD inhibitor of WNT signaling pathway 1 NKD1 85407 ENSG00000140807 Nkd1 (MGI:2135954) -chr16 50666299 50681311 16q12.1 16q12.1 613281 SNX20, SLIC1 Sorting nexin 20 SNX20 124460 ENSG00000167208 Snx20 (MGI:1918857) -chr16 50693586 50733076 16q12 16q12.1 605956 NOD2, CARD15, IBD1, CD, YAOS, BLAUS Nucleotide-binding oligomerization domain protein 2 NOD2 64127 ENSG00000167207 Blau syndrome, 186580 (3), Autosomal dominant; {Yao syndrome}, 617321 (3), Multifactorial; {Inflammatory bowel disease 1, Crohn disease}, 266600 (3), Multifactorial Nod2 (MGI:2429397) -chr16 50742085 50801934 16q12-q13 16q12.1 605018 CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS, FTDALS8 CYLD lysine-63 deubiquitinase CYLD 1540 ENSG00000083799 mutation identified in 1 FTDALS8 family Brooke-Spiegler syndrome, 605041 (3), Autosomal dominant; Cylindromatosis, familial, 132700 (3), Autosomal dominant; Trichoepithelioma, multiple familial, 1, 601606 (3), Autosomal dominant; ?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, 619132 (3) Cyld (MGI:1921506) -chr16 51135981 51151269 16q12.1 16q12.1 602218 SALL1, HSAL1, TBS Sal-like 1 SALL1 6299 ENSG00000103449 Townes-Brocks syndrome 1, 107480 (3), Autosomal dominant; Townes-Brocks branchiootorenal-like syndrome, 107480 (3), Autosomal dominant Sall1 (MGI:1889585) -chr16 52436414 52547801 16q12.1 16q12.1 611416 TOX3, TNRC9, CAGF9 TOX high mobility group box family member 3 TOX3 27324 ENSG00000103460 Tox3 (MGI:3039593) -chr16 53054981 53327501 16q12.2 16q12.2 616936 CHD9, CREMM, PRIC320, KIAA0308 Chromodomain helicase DNA-binding protein 9 CHD9 80205 ENSG00000177200 Chd9 (MGI:1924001) -chr16 53434470 53491647 16q12.2 16q12.2 180203 RBL2 Retinoblastoma-like 2 RBL2 5934 ENSG00000103479 Rbl2 (MGI:105085) -chr16 53491039 53504410 16q12.2 16q12.2 608483 AKTIP, FTS, FT1 AKT-interacting protein AKTIP 64400 ENSG00000166971 Aktip (MGI:3693832) -chr16 53598152 53703858 16q12.2 16q12.2 610937 RPGRIP1L, KIAA1005, JBTS7, MKS5, COACH3 RPGRIP1-like RPGRIP1L 23322 ENSG00000103494 mutation identified in 1 COACH patient Joubert syndrome 7, 611560 (3), Autosomal recessive; Meckel syndrome 5, 611561 (3), Autosomal recessive; ?COACH syndrome 3, 619113 (3) Rpgrip1l (MGI:1920563) -chr16 53703962 54121940 16q12.2 16q12.2 610966 FTO, GDFD, BMIQ14 FTO alpha-ketoglutarate dependent dioxygenase FTO 79068 ENSG00000140718 Growth retardation, developmental delay, facial dysmorphism, 612938 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ14}, 612460 (3), Autosomal recessive Fto (MGI:1347093) -chr16 54283303 54286786 16q12.2 16q12.2 612985 IRX3, IRXB1 Iroquois homeobox protein 3 IRX3 79191 ENSG00000177508 Irx3 (MGI:1197522) -chr16 54918862 54928885 16q12.2 16q12.2 615624 CRNDE Colorectal neoplasia differentially expressed gene, noncoding CRNDE 643911 -chr16 54930864 54934484 16q11.2-q13 16q12.2 606195 IRX5, HMMS Iroquois homeo box protein 5 IRX5 10265 ENSG00000176842 Hamamy syndrome, 611174 (3), Autosomal recessive Irx5 (MGI:1859086) -chr16 55323759 55330759 16q11.2-q13 16q12.2 606196 IRX6, IRX7 Iroquois homeo box protein 6 IRX6 79190 ENSG00000159387 Irx6 (MGI:1927642) -chr16 55478829 55506690 16q13 16q12.2 120360 MMP2, CLG4A, MONA Matrix metalloproteinase 2 (gelatinase A, 72kD type IV collagenase) MMP2 4313 ENSG00000087245 near MT1,2 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3), Autosomal recessive Mmp2 (MGI:97009) -chr16 55509054 55586665 16q12.2 16q12.2 612040 LPCAT1, AYTL1 Lysophosphatidylcholine acyltransferase 2 LPCAT2 54947 ENSG00000087253 Lpcat2 (MGI:3606214) -chr16 55566683 55567686 16q12.2 16q12.2 616767 CAPNS2, CSS2 Calpain, small subunit 2 CAPNS2 84290 ENSG00000256812 Capns2 (MGI:1916793) -chr16 55655927 55706191 16q12.2 16q12.2 163970 SLC6A2, NAT1, NET1 Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, cocaine- and antidepressant-sensitive SLC6A2 6530 ENSG00000103546 mutation identified in 1 ORSTI family ?Orthostatic intolerance, 604715 (3) Slc6a2 (MGI:1270850) -chr16 55802850 55833126 16q13-q22.1 16q12.2 114835 CES1, SES1 Carboxylesterase 1 (monocyte/macrophage serine esterase 1) CES1 1066 ENSG00000198848 Drug metabolism, altered, CES1-related, 618057 (3), Autosomal dominant Ces1g,Ces1f,Ces1e,Ces1d,Ces1c,Ces1b,Ces1a (MGI:88378,MGI:2142687,MGI:3648919,MGI:3779470,MGI:95432,MGI:2148202,MGI:95420) -chr16 55846153 55956030 16q12.2 16q12.2 618678 CES5A, CAUXIN Carboxylesterase 5A CES5A 221223 ENSG00000159398 Ces5a (MGI:1915185) -chr16 56000000 66600000 16q13-q21 605746 ANMA Anisomastia 80871 Anisomastia, 605746 (2) -chr16 56000000 70800000 16q13-q22.1 611031 EKD2 Episodic kinesigenic dyskinesia 2 100124415 max lod at D16S503 Episodic kinesigenic dyskinesia 2, 611031 (2), Autosomal dominant -chr16 56191488 56357443 16q13 16q13 139311 GNAO1, DEE17, NEDIM Guanine nucleotide-binding protein (G protein), alpha-activating activity GNAO1 2775 ENSG00000087258 close to MT1 in mouse Developmental and epileptic encephalopathy 17, 615473 (3), Autosomal dominant; Neurodevelopmental disorder with involuntary movements, 617493 (3), Autosomal dominant Gnao1 (MGI:95775) -chr16 56361451 56425544 16q21 16q13 603243 AMFR, GP78 Autocrine motility factor receptor AMFR 267 ENSG00000159461 Amfr (MGI:1345634) -chr16 56429132 56451331 16q12.2 16q13 604978 NUDT21, CPSF5, CFIM25 Nudix hydrolase 21 NUDT21 11051 ENSG00000167005 Nudt21 (MGI:1915469) -chr16 56451523 56479103 16q13 16q13 615857 OGFOD1 2-oxoglutarate- and iron-dependent oxygenase domain-containing protein 1 OGFOD1 55239 ENSG00000087263 Ogfod1 (MGI:2442978) -chr16 56470402 56520094 16q21 16q13 606151 BBS2, RP74 Bardet-Biedl syndrome 2 BBS2 583 ENSG00000125124 Retinitis pigmentosa 74, 616562 (3), Autosomal recessive; Bardet-Biedl syndrome 2, 615981 (3), Autosomal recessive Bbs2 (MGI:2135267) -chr16 56565072 56568956 Chr.16 16q13 606206 MT4, MTIV Metallothionein 4 MT4 84560 ENSG00000102891 Mt4 (MGI:99692) -chr16 56589527 56591084 16q13 16q13 139255 MT3, GIFB Metallothionein 3 (growth inhibitory factor (neurotrophic)) MT3 4504 ENSG00000087250 Mt3 (MGI:97173) -chr16 56608583 56609496 16q13 16q13 156360 MT2A, MT2 Metallothionein 2A MT2A 4502 ENSG00000125148 pseudogene MT2P1 on 4cen-q21 Mt2 (MGI:97172) -chr16 56617460 56618817 16q13 16q13 156358 MT1L Metallothionein 1L, pseudogene MT1L 4500 ENSG00000260549 -chr16 56625780 56627111 16q13 16q13 156351 MT1E Metallothionein 1E (functional) MT1E 4493 ENSG00000169715 Mt2,Mt1 (MGI:97172,MGI:97171) -chr16 56632658 56633980 16q13 16q13 156357 MT1K Metallothionein 1K MT1M 4499 ENSG00000205364 Mt1 (MGI:97171) -chr16 56635738 56637085 16q13 16q13 156356 MT1JP Metallothionein 1J, pseudogene MT1JP 4498 ENSG00000255986 -chr16 56638665 56640086 16q13 16q13 156350 MT1A Metallothionein 1A (functional) MT1A 4489 ENSG00000205362 proximal to FRA16B Mt1 (MGI:97171) -chr16 56651885 56653203 16q13 16q13 156349 MT1B Metallothionein 1B (functional) MT1B 4490 ENSG00000169688 Mt2,Mt1 (MGI:97172,MGI:97171) -chr16 56657958 56659302 16q13 16q13 156352 MT1F Metallothionein 1F (functional) MT1F 4494 ENSG00000198417 Mt2,Mt1 (MGI:97172,MGI:97171) -chr16 56666729 56668064 16q13 16q13 156353 MT1G Metallothionein 1G MT1G 4495 ENSG00000125144 Mt1 (MGI:97171) -chr16 56669813 56671128 16q13 16q13 156354 MT1H Metallothionein 1H MT1H 4496 ENSG00000205358 Mt2,Mt1 (MGI:97172,MGI:97171) -chr16 56676115 56677876 16q13 16q13 156355 MT1IP Metallothionein 1I, pseudogene MT1IP 644314 -chr16 56682469 56684195 16q13 16q13 156359 MT1X Metallothionein 1X MT1X 4501 ENSG00000187193 Mt2,Mt1 (MGI:97172,MGI:97171) -chr16 56730128 56850285 16q13 16q13 614351 NUP93, NIC96, KIAA0095, NPHS12 Nucleoporin, 93kD NUP93 9688 ENSG00000102900 Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive Nup93 (MGI:1919055) -chr16 56858517 56858600 16q13 16q13 613395 MIR138-2, MIRN138-2 Micro RNA 138-2 MIR138-2 406930 ENSG00000207649 Mir138-2 (MGI:3618733) -chr16 56865206 56915849 16q13 16q13 600968 SLC12A3, NCCT, TSC Solute carrier family 12 (sodium/potassium/chloride transporters), member 3 SLC12A3 6559 ENSG00000070915 Gitelman syndrome, 263800 (3), Autosomal recessive Slc12a3 (MGI:108114) -chr16 56932141 56944863 16q12.2-q13 16q13 608070 HERPUD1, MIF1, HERP, KIAA0025 Homocysteine- and endoplasmic reticulum stress-inducible protein, ubiquitin-like domain-containing, 1 HERPUD1 9709 ENSG00000051108 Herpud1 (MGI:1927406) -chr16 56961949 56983844 16q21 16q13 118470 CETP, HDLCQ10 Cholesteryl ester transfer protein, plasma CETP 1071 ENSG00000087237 [High density lipoprotein cholesterol level QTL 10], 143470 (3), Autosomal dominant; Hyperalphalipoproteinemia, 143470 (3), Autosomal dominant -chr16 56989556 57083519 16q13 16q13 613537 NLRC5 NLR family, caspase recruitment domain-containing 5 NLRC5 84166 ENSG00000140853 Nlrc5 (MGI:3612191) -chr16 57092582 57148368 16q13 16q13 604206 CPNE2, CPN2 Copine II CPNE2 221184 ENSG00000140848 Cpne2 (MGI:2387578) -chr16 57152465 57186115 16q13 16q13 617766 FAM192A, NIP30, C16orf94 Family with sequence similarity 192, member A PSME3IP1 80011 ENSG00000172775 Psme3ip1 (MGI:1919637) -chr16 57186136 57240472 16q13 16q13 616585 RSPRY1, KIAA1972, SEMDFA RING finger- and SPRY domain-containing protein 11 RSPRY1 89970 ENSG00000159579 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616723 (3), Autosomal recessive Rspry1 (MGI:1914860) -chr16 57245258 57253634 16q13 16q13 615407 ARL2BP, BART ADP ribosylation factor-like GTPase 2 binding protein ARL2BP 23568 ENSG00000102931 Retinitis pigmentosa with or without situs inversus, 615434 (3), Autosomal recessive Arl2bp (MGI:1349429) -chr16 57256096 57284671 16q13 16q13 600340 PLLP, PMLP, TM4SF11 Plasmolipin PLLP 51090 ENSG00000102934 Pllp (MGI:1915051) -chr16 57300000 74100000 16q21-q22 616648 OPA8 Optic atrophy 8 106783499 max lod at D16S752 Optic atrophy 8, 616648 (2), Autosomal dominant -chr16 57358782 57366188 16q13 16q21 602957 CCL22, SCYA22 Chemokine, C-C motif, ligand 22 CCL22 6367 ENSG00000102962 Ccl22 (MGI:1306779) -chr16 57372489 57385043 16q 16q21 601880 CX3CL1, SCYD1, NTT, NTN Chemokine, C-X3-C motif, ligand 1 (fractalkine; neurotactin) CX3CL1 6376 ENSG00000006210 Cx3cl1 (MGI:1097153) -chr16 57396075 57416062 16q13 16q21 601520 CCL17, SCYA17, TARC Chemokine, C-C motif, ligand 17 CCL17 6361 ENSG00000102970 Ccl17 (MGI:1329039) -chr16 57428186 57447384 16q21 16q21 608943 CIAPIN1 Cytokine-induced apoptosis inhibitor 1 (anamorsin) CIAPIN1 57019 ENSG00000005194 Ciapin1 (MGI:1922083) -chr16 57447478 57461269 16q13 16q21 612837 COQ9, C16orf49, COQ10D5 Coq9, S. cerevisiae, homolog of COQ9 57017 ENSG00000088682 Coenzyme Q10 deficiency, primary, 5, 614654 (3), Autosomal recessive Coq9 (MGI:1915164) -chr16 57462678 57472008 16q13-q21 16q21 180663 POLR2C Polymerase (RNA) II (DNA directed) polypeptide C, 33kD POLR2C 5432 ENSG00000102978 Polr2c (MGI:109299) -chr16 57471921 57487321 16q21 16q21 608333 DOK4 Docking protein 4 DOK4 55715 ENSG00000125170 Dok4 (MGI:2148865) -chr16 57529338 57578181 16q21 16q21 616965 ADGRG5, GPR114 Adhesion G protein-coupled receptor G5 ADGRG5 221188 ENSG00000159618 Adgrg5 (MGI:2685955) -chr16 57619534 57665566 16q13 16q21 604110 ADGRG1, GPR56, TM7XN1, BFPP, BPPR Adhesion G protein-coupled receptor G1 ADGRG1 9289 ENSG00000205336 Polymicrogyria, bilateral frontoparietal, 606854 (3), Autosomal recessive; Polymicrogyria, bilateral perisylvian, 615752 (3) Adgrg1 (MGI:1340051) -chr16 57663997 57689377 16q21 16q21 618441 ADGRG3, GPR97 Adhesion G protein-coupled receptor G3 ADGRG3 222487 ENSG00000182885 Adgrg3 (MGI:1859670) -chr16 57694805 57731804 4q21.1 16q21 618769 DRC7, CCDC135, CFAP50, C16orf50 Dynein regulatory complex subunit 7 DRC7 84229 ENSG00000159625 Drc7 (MGI:2685616) -chr16 57735769 57757243 16q21 16q21 602703 KATNB1, LIS6 Katanin, p80 subunit, B1 KATNB1 10300 ENSG00000140854 Lissencephaly 6, with microcephaly, 616212 (3), Autosomal recessive Katnb1 (MGI:1921437) -chr16 57758216 57863052 16q13-q21 16q21 604535 KIFC3 Kinesin family member C3 KIFC3 3801 ENSG00000140859 Kifc3 (MGI:109202) -chr16 57882339 57971127 16q21 16q21 600724 CNGB1, CNCG3L, CNCG2, RP45 Cyclic nucleotide gated channel, beta 1 CNGB1 1258 ENSG00000070729 Retinitis pigmentosa 45, 613767 (3), Autosomal recessive Cngb1 (MGI:2664102) -chr16 57976543 57988115 16q13 16q21 610264 TEPP Testis-prostate-placenta-expressed protein TEPP 374739 ENSG00000159648 Tepp (MGI:1920657) -chr16 57999602 58021617 16q13 16q21 613276 USB1, C16orf57, PN U6 small nuclear RNA biogenesis phosphodiesterase 1 USB1 79650 ENSG00000103005 Poikiloderma with neutropenia, 604173 (3), Autosomal recessive Usb1 (MGI:2142454) -chr16 58025753 58046900 16q13-q21 16q21 602261 MMP15 Matrix metalloproteinase 15 MMP15 4324 ENSG00000102996 Mmp15 (MGI:109320) -chr16 58113591 58129380 16q21 16q21 617906 CFAP20, BUG22, C16orf80, FSAP23 Cilia- and flagella-associated protein 20 CFAP20 29105 ENSG00000070761 Cfap20 (MGI:107428) -chr16 58157906 58198105 16p13.3-p13.2 16q21 115442 CSNK2A2 Casein kinase-2, alpha-prime polypeptide CSNK2A2 1459 ENSG00000070770 Csnk2a2 (MGI:88547) -chr16 58196861 58283835 16q21 16q21 616070 CCDC113 Coiled-coil domain-containing protein 113 CCDC113 29070 ENSG00000103021 Ccdc113 (MGI:3606076) -chr16 58392470 58406146 16q21 16q21 610610 GINS3, PSF3 GINS complex subunit 3 GINS3 64785 ENSG00000181938 Gins3 (MGI:1926083) -chr16 58463703 58515402 16q21-q22.3 16q21 614463 NDRG4, SMAP8, KIAA1180 NMYC downstream-regulated gene 4 NDRG4 65009 ENSG00000103034 Ndrg4 (MGI:2384590) -chr16 58515478 58523841 16q21 16q21 616424 SETD6 SET domain-containing protein 6 SETD6 79918 ENSG00000103037 Setd6 (MGI:1913333) -chr16 58519950 58629825 16q21 16q21 604917 CNOT1, NOT1, HPE12, VIBOS CCR4-NOT transcription complex, subunit 1 CNOT1 23019 ENSG00000125107 Vissers-Bodmer syndrome, 619033 (3), Autosomal dominant; Holoprosencephaly 12, with or without pancreatic agenesis, 618500 (3), Autosomal dominant Cnot1 (MGI:2442402) -chr16 58665108 58684769 16q21 16q21 614236 SLC38A7, SNAT7 Solute carrier family 38 (amino acid transporter), member 7 SLC38A7 55238 ENSG00000103042 Slc38a7 (MGI:2679005) -chr16 58707130 58734315 16q21 16q21 138150 GOT2, DEE82 Glutamic-oxaloacetic transaminase 2, mitochondrial GOT2 2806 ENSG00000125166 ?pseudogenes on 12 and 1 Developmental and epileptic encephalopathy 82, 618721 (3), Autosomal recessive Got2 (MGI:95792) -chr16 61640397 62036445 16q21-q22.1 16q21 603008 CDH8 Cadherin-8 CDH8 1006 ENSG00000150394 Cdh8 (MGI:107434) -chr16 64943752 65126111 16q21-q22.1 16q21 600023 CDH11, CAD11, ESWS Cadherin-11 (OB-cadherin, osteoblast) CDH11 1009 ENSG00000140937 Elsahy-Waters syndrome, 211380 (3), Autosomal recessive Cdh11 (MGI:99217) -chr16 66366656 66404783 16q22.1 16q21 601120 CDH5 Cadherin-5 CDH5 1003 ENSG00000179776 Cdh5 (MGI:105057) -chr16 66427294 66495287 16q21 16q21 612051 BEAN, SCA31 Brain-expressed, associated with NEDD4 BEAN1 146227 ENSG00000166546 Spinocerebellar ataxia 31, 117210 (3), Autosomal dominant Bean1 (MGI:1929597) -chr16 66508002 66550290 16q22 16q21 188250 TK2, MTDPS2, PEOB3 Thymidine kinase, mitochondrial TK2 7084 ENSG00000166548 mutation identified in 1 PEOB3 family Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3), Autosomal recessive Tk2 (MGI:1913266) -chr16 66552562 66566286 16q23 16q21 616074 CKLF, HSPC224 Chemokine-like factor CKLF 51192 ENSG00000217555 Cklf (MGI:1922708) -chr16 66566438 66579134 16q22 16q21 607884 CMTM1, CKLFSF1 CKLF-like marvel transmembrane domain-containing 1 CMTM1 113540 ENSG00000089505 Cmtm1 (MGI:2447159) -chr16 66579462 66588274 16q22 16q21 607885 CMTM2, CKLFSF2 CKLF-like marvel transmembrane domain-containing 2 CMTM2 146225 ENSG00000140932 Cmtm2b,Cmtm2a (MGI:2447160,MGI:2447311) -chr16 66598177 66696742 16q22 16q-q 607887 CMTM4, CKLFSF4 CKLF-like marvel transmembrane domain-containing 4 CMTM4 146223 ENSG00000183723 Cmtm4 (MGI:2142888) -chr16 66600000 70800000 16q22.1 612590 CRCS9 Colorectal cancer, susceptibility to, 9 100329169 associated with rs9929218 {Colorectal cancer, susceptibility to, 9}, 612590 (2) -chr16 66600000 79200000 16q22.1-q23.1 611571 OTSC4 Otosclerosis 4 286751 between D16S3107 and D16S3097 {Otosclerosis 4}, 611571 (2), Autosomal dominant -chr16 66600000 70800000 16q22.1 600223 SCA4 Spinocerebellar ataxia 4 Spinocerebellar ataxia 4, 600223 (2), Autosomal dominant -chr16 66603995 66613891 16q22 16q22.1 607886 CMTM3, CKLFSF3 CKLF-like marvel transmembrane domain-containing 3 CMTM3 123920 ENSG00000140931 Cmtm3 (MGI:2447162) -chr16 66720892 66751608 16q22.1 16q22.1 611406 DYNC1LI2, LIC2 Dynein, cytoplasmic 1, light intermediate chain 2 DYNC1LI2 1783 ENSG00000135720 Dync1li2 (MGI:107738) -chr16 66754409 66801610 16q22.1 16q22.1 617332 TERB1, CCDC79 Telomere repeat-binding bouquet formation protein 1 TERB1 283847 ENSG00000249961 Terb1 (MGI:2443187) -chr16 66802877 66830976 16q22 16q22.1 603385 NAE1, APPBP1 NEDD8 activating enzyme E1 subunit 1 NAE1 8883 ENSG00000159593 Nae1 (MGI:2384561) -chr16 66844413 66854148 16q21-q23 16q22.1 114770 CA7 Carbonic anhydrase VII CA7 766 ENSG00000168748 Car7 (MGI:103100) -chr16 66880514 66891100 16q22.1 16q22.1 615499 PDP2, KIAA1348 Pyruvate dehydrogenase phosphatase catalytic subunit 2 PDP2 57546 ENSG00000172840 Pdp2 (MGI:1918878) -chr16 66908121 66918884 16q22.1 16q22.1 603118 CDH16 Cadherin-16 CDH16 1014 ENSG00000166589 Cdh16 (MGI:106671) -chr16 66921684 66925534 16q22 16q22.1 179503 RRAD Ras-related associated with diabetes RRAD 6236 ENSG00000166592 Rrad (MGI:1930943) -chr16 66932064 66934401 16q22.1 16q22.1 614778 FAM96B, MIP18 Family with sequence similarity 96, member B CIAO2B 51647 ENSG00000166595 Ciao2b (MGI:1915773) -chr16 66934470 66945095 16q22.1 16q22.1 605278 CES2 Carboxylesterase 2 CES2 8824 ENSG00000172831 Ces2h,Ces2g,Ces2f,Ces2e,Ces2c,Ces2b,Ces2a (MGI:1919153,MGI:2443170,MGI:2385905,MGI:1919611,MGI:3648740,MGI:2142491,MGI:2448547) -chr16 66961265 66975148 16q21 16q22.1 605279 CES3, ES31 Carboxylesterase 3 CES3 23491 ENSG00000172828 Ces3a,Ces3b (MGI:102773,MGI:3644960) -chr16 67029148 67101057 16q22 16q22.1 121360 CBFB, PEBP2B Core-binding factor, beta subunit CBFB 865 ENSG00000067955 inv(16)(p13;q22); fuses to MYH11 Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 (1) Cbfb (MGI:99851) -chr16 67154184 67159908 16q22 16q22.1 603500 TRADD TNRF1-associated death domain protein TRADD 8717 ENSG00000102871 Tradd (MGI:109200) -chr16 67159956 67164173 16q22.1 16q22.1 609077 FBXL8, FBL8 F-box and leucine-rich repeat protein 8 FBXL8 55336 ENSG00000135722 Fbxl8 (MGI:1354697) -chr16 67163760 67169940 16q21-q22.1 16q22.1 602438 HSF4, CTM, CTRCT5 Heat-shock transcription factor 4 HSF4 3299 ENSG00000102878 Cataract 5, multiple types, 116800 (3), Autosomal dominant Hsf4 (MGI:1347058) -chr16 67170537 67175736 16q21-q23 16q22.1 605235 NOL3, NOP, MYC, ARC, FCM, MYOCL1 Nucleolar protein 3 NOL3 8996 ENSG00000140939 mutation identified in 1 MYOCL1 family ?Myoclonus, familial, 1, 614937 (3), Autosomal dominant Nol3 (MGI:1925938) -chr16 67184378 67190135 16q22.1 16q22.1 614117 EXOC3L1, EXOC3L Exocyst complex component 3-like 1 EXOC3L1 283849 ENSG00000179044 Exoc3l (MGI:3041195) -chr16 67192154 67198917 16q22.1 16q22.1 600659 E2F4 E2F transcription factor 4, p107/p130-binding E2F4 1874 ENSG00000205250 E2f4 (MGI:103012) -chr16 67202320 67202394 16q22.1 16q22.1 613701 MIR328, MIRN328 Micro RNA 328 MIR328 442901 ENSG00000207948 Mir328 (MGI:3619340) -chr16 67199130 67204028 Chr.16 16q22.1 606422 ELMO3 Engulfment and cell motility gene 3 ELMO3 79767 ENSG00000102890 Elmo3 (MGI:2679007) -chr16 67229388 67247480 16q22 16q22.1 606881 FHOD1, FHOS Formin homology 2 domain-containing 1 FHOD1 29109 ENSG00000135723 Fhod1 (MGI:2679008) -chr16 67247548 67272190 16q22.1 16q22.1 600477 SLC9A5, NHE5 Solute carrier family 9 (sodium/hydrogen exchanger), member 5 SLC9A5 6553 ENSG00000135740 Slc9a5 (MGI:2685542) -chr16 67277819 67289484 16q22.1 16q22.1 609526 PLEKHG4 Pleckstrin homology domain- and RhoGEF domain-containing protein G4 PLEKHG4 25894 ENSG00000196155 Plekhg4 (MGI:2142544) -chr16 67389806 67393497 16q22.1 16q22.1 616957 TPPP3, p20 Tubulin polymerization-promoting protein family, member 3 TPPP3 51673 ENSG00000159713 Tppp3 (MGI:1915221) -chr16 67431120 67437552 16q22 16q22.1 614232 HSD11B2, HSD11K, AME Hydroxysteroid (11-beta) dehydrogenase 2 HSD11B2 3291 ENSG00000176387 Apparent mineralocorticoid excess, 218030 (3), Autosomal recessive Hsd11b2 (MGI:104720) -chr16 67438018 67481156 16q22 16q22.1 607028 ATP6V0D1 ATPase, H+ transporting, V0 subunit D1 ATP6V0D1 9114 ENSG00000159720 Atp6v0d1 (MGI:1201778) -chr16 67482570 67483546 16q22 16q22.1 602311 AGRP, ART, AGRT Agouti-related neuropeptide AGRP 181 ENSG00000159723 {Leanness, inherited}, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive; {Obesity, late-onset}, 601665 (3), Autosomal dominant, Multifactorial, Autosomal recessive Agrp (MGI:892013) -chr16 67562525 67639184 16q22.1 16q22.1 604167 CTCF, MRD21 CCCTC-binding factor CTCF 10664 ENSG00000102974 Mental retardation, autosomal dominant 21, 615502 (3), Autosomal dominant Ctcf (MGI:109447) -chr16 67645003 67657568 16q22.1 16q22.1 610859 CARMIL2, RLTPR, IMD58 Capping protein regulator and myosin 1 linker 2 CARMIL2 146206 ENSG00000159753 Immunodeficiency 58, 618131 (3), Autosomal recessive Carmil2 (MGI:2685431) -chr16 67657511 67660831 16q22.1 16q22.1 609377 ACD, PTOP, PIP1, TINT1 ACD shelterin complex subunit and telomerase recruitment factor ACD 65057 ENSG00000102977 mutation has been identified in 1 DKCA7 and 1 DKCB7 family ?Dyskeratosis congenita, autosomal recessive 7, 616553 (3), Autosomal dominant, Autosomal recessive; ?Dyskeratosis congenita, autosomal dominant 6, 616553 (3), Autosomal dominant, Autosomal recessive Acd (MGI:87873) -chr16 67660955 67662773 16q22.1 16q22.1 607484 PARD6A, TAX40 PAR6 family cell polarity regulator alpha PARD6A 50855 ENSG00000102981 Pard6a (MGI:1927223) -chr16 67723067 67806559 16q22.1 16q22.1 614031 RANBP10, KIAA1464 Ran-binding protein 10 RANBP10 57610 ENSG00000141084 Ranbp10 (MGI:1921584) -chr16 67806572 67828067 16q22.1 16q22.1 607720 TSNAXIP1, TXI1 Translin-associated factor X-interacting protein 1 TSNAXIP1 55815 ENSG00000102904 Tsnaxip1 (MGI:1919486) -chr16 67828156 67847692 16q22.1 16q22.1 611510 CENPT, SSMGA Centromere protein T CENPT 80152 ENSG00000102901 mutation identified in 1 SSMGA family ?Short stature and microcephaly with genital anomalies, 618702 (3), Autosomal recessive Cenpt (MGI:2443939) -chr16 67842319 67844194 16q22.1 16q22.1 609119 THAP11, RONIN THAP domain-containing protein 11 THAP11 57215 ENSG00000168286 Thap11 (MGI:1930964) -chr16 67846932 67872566 16q22.1 16q22.1 605813 NUTF2, NTF2, PP15 Nuclear transport factor 2 NUTF2 10204 ENSG00000102898 Nutf2-ps2,Nutf2 (MGI:1915301,MGI:3704482) -chr16 67873051 67884498 16q22.1 16q22.1 606030 EDC4, RCD8, GE1, HEDL5 Enhancer of mRNA decapping 4 EDC4 23644 ENSG00000038358 Edc4 (MGI:2446249) -chr16 67893253 67929675 16q22.1 16q22.1 177015 PSKH1 Putative serine kinase H1 PSKH1 5681 ENSG00000159792 Pskh1 (MGI:3528383) -chr16 67929573 67931861 16q22.1 16q22.1 118888 CTRL Chymotrypsin-like protease CTRL 1506 ENSG00000141086 Ctrl (MGI:88558) -chr16 67934505 67936849 16q22.1 16q22.1 176847 PSMB10, MECL1, LMP10, PRAAS5 Proteosome subunit, beta-type, 10 PSMB10 5699 ENSG00000205220 3.1kb from LCAT Proteasome-associated autoinflammatory syndrome 5, 619175 (3), Autosomal recessive Psmb10 (MGI:1096380) -chr16 67939749 67944119 16q22.1 16q22.1 606967 LCAT Lecithin-cholesterol acyltransferase LCAT 3931 ENSG00000213398 very close to HP Fish-eye disease, 136120 (3), Autosomal recessive; Norum disease, 245900 (3), Autosomal recessive Lcat (MGI:96755) -chr16 67943473 67968693 16q22.1 16q22.1 604119 SLC12A4, KCC1 Solute carrier family 12 (potassium/chloride transporters), member 4 SLC12A4 6560 ENSG00000124067 Slc12a4 (MGI:1309465) -chr16 67975662 67980498 16q22.1 16q22.1 609926 DPEP3, MBD3 Dipeptidase 3 DPEP3 64180 ENSG00000141096 Dpep3 (MGI:1919104) -chr16 67987389 68000643 16q22.1 16q22.1 609925 DPEP2, MBD2 Dipeptidase 2 DPEP2 64174 ENSG00000167261 Dpep2 (MGI:2442042) -chr16 68020915 68023231 16q22.1 16q22.1 607618 DDX28, MDDX28 DEAD-box helicase 28 DDX28 55794 ENSG00000182810 Ddx28 (MGI:1919236) -chr16 68023283 68079319 16q22.1 16q22.1 609707 DUS2L, DUS2 Dihydrouridine synthase 2-like DUS2 54920 ENSG00000167264 Dus2 (MGI:1913619) -chr16 68225967 68236174 16q22.1 16q22.1 612960 ESRP2, RBM35B Epithelial splicing regulatory protein 2 ESRP2 80004 ENSG00000103067 Esrp2 (MGI:1924661) -chr16 68085369 68229258 Chr.16 16q22.1 602698 NFATC3 Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 3 NFATC3 4775 ENSG00000072736 Nfatc3 (MGI:103296) -chr16 68245370 68261061 16q22.1 16q22.1 609362 LYPLA3, LLPL, ACS, LPLA2 Lysophospholipase 3 PLA2G15 23659 ENSG00000103066 Pla2g15 (MGI:2178076) -chr16 68298033 68310947 16q22.1 16q22.1 619192 SLC7A6OS, EPM12 Solute carrier family 7, member 6, opposite strand SLC7A6OS 84138 ENSG00000103061 Epilepsy, progressive myoclonic, 12, 619191 (3), Autosomal recessive Slc7a6os (MGI:1916951) -chr16 68264509 68301818 Chr.16 16q22.1 605641 SLC7A6 Solute carrier family 7 (y+L-type amino acid transporter), member 6 SLC7A6 9057 ENSG00000103064 Slc7a6 (MGI:2142598) -chr16 68310981 68360875 16q22.1 16q22.1 610087 PRMT7, KIAA1933, SBIDDS Protein arginine N-methyltransferase 7 PRMT7 54496 ENSG00000132600 Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3), Autosomal recessive Prmt7 (MGI:2384879) -chr16 68358326 68448702 16q22.1 16q22.1 605777 SMPD3, NSMASE2 Sphingomyelin phosphodiesterase 3, neutral membrane SMPD3 55512 ENSG00000103056 Smpd3 (MGI:1927578) -chr16 68530248 68576071 16q22.1 16q22.1 609451 ZFP90, NK10, KIAA1954 Zinc finger protein 90, mouse, homolog of ZFP90 146198 ENSG00000184939 Zfp90 (MGI:104786) -chr16 68644913 68727572 16q22.1 16q22.1 114021 CDH3, CDHP, PCAD, HJMD Cadherin-3 (P-cadherin) CDH3 1001 ENSG00000062038 in mouse tightly linked to ECAD Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3), Autosomal recessive; Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3), Autosomal recessive Cdh3 (MGI:88356) -chr16 68737291 68835536 16q22.1 16q22.1 192090 CDH1, UVO, LCAM, ECAD, BCDS1 Cadherin-1 (E-cadherin; uvomorulin) CDH1 999 ENSG00000039068 near LCAT Ovarian cancer, somatic, 167000 (3); Blepharocheilodontic syndrome 1, 119580 (3), Autosomal dominant; Endometrial carcinoma, somatic, 608089 (3); {Breast cancer, lobular}, 114480 (3), Somatic mutation, Autosomal dominant; Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3), Autosomal dominant; {Prostate cancer, susceptibility to}, 176807 (3), Somatic mutation, Autosomal dominant Cdh1 (MGI:88354) -chr16 69105652 69118718 16q22.1 16q22.1 602428 HAS3 Hyaluronan synthase 3 HAS3 3038 ENSG00000103044 Has3 (MGI:109599) -chr16 69118009 69132587 16q22.1 16q22.1 613202 CHTF8, CTF8 Chromosome transmission fidelity factor 8 CHTF8 54921 ENSG00000168802 Chtf8 (MGI:2443370) -chr16 69132629 69169023 16q22 16q22.1 607456 UTP4, CIRH1A, TEX292, KIAA1988 UTP4 small subunit processome component UTP4 84916 ENSG00000141076 Utp4 (MGI:1096573) -chr16 69187163 69309051 16q22-q23 16q22.1 600027 SNTB2, SNT2B2, SNTL Syntrophin, beta-2 SNTB2 6645 ENSG00000168807 Sntb2 (MGI:101771) -chr16 69311349 69326938 16q22 16q22.1 609982 VPS4A, VPS4, CIMDAG Vacuolar protein sorting 4 homolog A VPS4A 27183 ENSG00000132612 CIMDAG syndrome, 619273 (3), Autosomal dominant Vps4a (MGI:1890520) -chr16 69326427 69339563 16q22.1 16q22.1 606979 COG8, DOR1, CDG2H Component of oligomeric golgi complex 8 COG8 84342 ENSG00000213380 Congenital disorder of glycosylation, type IIh, 611182 (3) Cog8 (MGI:2142885) -chr16 69326912 69330587 16q22.1 16q22.1 618720 PDF Peptide deformylase, mitochondrial PDF 64146 ENSG00000258429 Pdf (MGI:1915273) -chr16 69339771 69343105 16q22.1 16q22.1 619204 NIP7, KD93 Nucleolar pre-rRNA-processing protein NIP7 NIP7 51388 ENSG00000132603 Nip7 (MGI:1913414) -chr16 69355566 69386006 16q22.1 16q22.1 602027 TERF2, TRF2 Telomeric repeat-binding factor-2 TERF2 7014 ENSG00000132604 Terf2 (MGI:1195972) -chr16 69424618 69466263 16q22.1 16q22.1 611964 CYB5B, CYPB5M Cytochrome b5, type B (outer mitochondrial membrane) CYB5B 80777 ENSG00000103018 Cyb5b (MGI:1913677) -chr16 69565951 69704653 16q22.1 16q22.1 604708 NFAT5, KIAA0827, NFATL1, TONEBP Nuclear factor of activated T cells 5 NFAT5 10725 ENSG00000102908 Nfat5 (MGI:1859333) -chr16 69709400 69726559 16q22.1 16q22.1 125860 NQO1, DIA4, NMOR1 NAD(P)H dehydrogenase, quinone 1 (diaphorase-4) NQO1 1728 ENSG00000181019 {Breast cancer, poor survival after chemotherapy for} (3); {Leukemia, post-chemotherapy, susceptibility to} (3); {Benzene toxicity, susceptibility to} (3) Nqo1 (MGI:103187) -chr16 69741870 69754925 16q22.1 16q22.1 613586 NOB1 NIN1 (RPN12)-binding protein 1 homolog NOB1 28987 ENSG00000141101 Nob1 (MGI:1914869) -chr16 69762300 69941740 16q21 16q22.1 602308 WWP2 WW domain-containing protein 2 WWP2 11060 ENSG00000198373 Wwp2 (MGI:1914144) -chr16 69933080 69933179 16q22.1 16q22.1 611894 MIR140, MIRN140, SEDN Micro RNA 140 MIR140 406932 ENSG00000208017 Spondyloepiphyseal dysplasia, Nishimura type, 618618 (3), Autosomal dominant Mir140 (MGI:2676825) -chr16 69950231 69968477 16q22.1 16q22.1 616571 CLEC18A C-type lecting domain family 18, member A CLEC18A 348174 ENSG00000157322 Clec18a (MGI:2672935) -chr16 70113625 70163630 16q22.1 16q22.1 617835 PDPR, KIAA1990 Pyruvate dehydrogenase phosphatase regulatory subunit PDPR 55066 ENSG00000090857 Pdpr (MGI:2442188) -chr16 70173321 70187146 16q22.1 16q22.1 616573 CLEC18C C-type lectin domain family 18, member C CLEC18C 283971 ENSG00000157335 Clec18a (MGI:2672935) -chr16 70246777 70251939 16q22.1 16q22.1 606490 EXOSC6, MTR3 Exosome component 6 EXOSC6 118460 ENSG00000223496 Exosc6 (MGI:1919794) -chr16 70252294 70289508 16q22 16q22.1 601065 AARS1, AARS, CMT2N, DEE29 Alanyl-tRNA synthetase 1 AARS1 16 ENSG00000090861 Developmental and epileptic encephalopathy 29, 616339 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3), Autosomal dominant Aars (MGI:2384560) -chr16 70289766 70335304 16q22.1 16q22.1 605812 DDX19B, DBP5 DEAD/H-box helicase 19B DDX19B 11269 ENSG00000157349 Ddx19b (MGI:2148251) -chr16 70454589 70480273 16q22.1 16q22.1 608675 FCSK, FUK, CDGF2 Fucose kinase FCSK 197258 ENSG00000157353 Congenital disorder of glycosylation with defective fucosylation 2, 618324 (3), Autosomal recessive Fcsk (MGI:1916071) -chr16 70480566 70523553 16q22.1 16q22.1 606976 COG4, COD1, CDG2J, SWILS Component of oligomeric golgi complex 4 COG4 25839 ENSG00000103051 Congenital disorder of glycosylation, type IIj, 613489 (3), Autosomal recessive; Saul-Wilson syndrome, 618150 (3), Autosomal dominant Cog4 (MGI:2142808) -chr16 70523815 70577667 16q22.1 16q22.1 605592 SF3B3, SF3B130, SAP130 Splicing factor 3B, subunit 3 SF3B3 23450 ENSG00000189091 Sf3b3 (MGI:1289341) -chr16 70579898 70660681 16q22.1 16q22.1 612081 IL34, C16orf77 Interleukin 34 IL34 146433 ENSG00000157368 Il34 (MGI:1923777) -chr16 70661203 70686052 16q22.1 16q22.1 616951 MTSS1L, ABBA1 Metastasis suppressor 1-like protein MTSS2 92154 ENSG00000132613 Mtss2 (MGI:3039591) -chr16 70687438 70801157 16q22.1 16q22.1-q22.2 604632 VAC14, TAX1BP2, TRX, SNDC VAC14 component of PIKFYVE complex VAC14 55697 ENSG00000103043 Striatonigral degeneration, childhood-onset, 617054 (3), Autosomal recessive Vac14 (MGI:2157980) -chr16 70802083 71230721 16q22.2 16q22.2 610812 HYDIN, HYDIN1, CILD5 HYDIN axonemal central pair apparatus protein HYDIN 54768 ENSG00000157423 duplicated copy on 1q21.1 Ciliary dyskinesia, primary, 5, 608647 (3), Autosomal recessive Hydin (MGI:2389007) -chr16 71281391 71290177 16q22.2 16q22.2 616190 CMTR2, MTR2, FTSJD1 CAP methyltransferase 2 CMTR2 55783 ENSG00000180917 Cmtr2 (MGI:2384580) -chr16 71358722 71390437 16q22.1 16q22.2 114051 CALB2 Calbindin 2, 29kD (calretinin) CALB2 794 ENSG00000172137 Calb2 (MGI:101914) -chr16 71447596 71462246 16q22 16q22.2 194527 ZNF23, KOX16 Zinc finger protein-32 (KOX16) ZNF23 7571 ENSG00000167377 Zfp612 (MGI:2443465) -chr16 71473582 71489323 16q22 16q22.2 194525 ZNF19, KOX12 Zinc finger protein-19 (KOX12) ZNF19 7567 ENSG00000157429 ?16q23, 19q13 -chr16 71565659 71577091 16q22.1-q22.3 16q22.2 613018 TAT Tyrosine aminotransferase, soluble TAT 6898 ENSG00000198650 Tyrosinemia, type II, 276600 (3), Autosomal recessive Tat (MGI:98487) -chr16 71626179 71641964 16q22.2 16q22.2 614094 MARVELD3 Marvel domain-containing protein 3 MARVELD3 91862 ENSG00000140832 Marveld3 (MGI:1920858) -chr16 71644923 71724700 16q22.3 16q22.2 611066 PHLPPL, PHLPP2 PH domain and leucine-rich repeat protein phosphatase-like PHLPP2 23035 ENSG00000040199 Phlpp2 (MGI:2444928) -chr16 71728999 71808833 16q23 16q22.2 603533 AP1G1, ADTG, CLAPG1 Adaptor-related protein complex 1, gamma 1 subunit (adaptin, gamma) AP1G1 164 ENSG00000166747 Ap1g1 (MGI:101919) -chr16 71845975 71857327 16q22.2 16q22.2 614301 ATXN1L, BOAT1 Ataxin 1-like (brother of ataxin 1) ATXN1L 342371 ENSG00000224470 Atxn1l (MGI:3694797) -chr16 71894407 71931198 16q22.2 16q22.2 616434 IST1, KIAA0174 IST1 factor associated with ESCRT-III IST1 9798 ENSG00000182149 Ist1 (MGI:1919205) -chr16 71929537 72000401 16q22 16q22.2 607895 PKD1L3 Polycystin 1-like 3 PKD1L3 342372 ENSG00000277481 Pkd1l3 (MGI:2664670) -chr16 72008743 72027658 16q22 16q22.2 126064 DHODH, URA1, POADS Dihydroorotate dehydrogenase DHODH 1723 ENSG00000102967 Miller syndrome, 263750 (3), Autosomal recessive Dhodh (MGI:1928378) -chr16 72044260 72094377 16q22.2 16q22.2 617722 TXNL4B, DLP, DIM2 Thioredoxin-like 4B TXNL4B 54957 ENSG00000140830 Txnl4b (MGI:2443724) -chr16 72054504 72061054 16q22.1 16q22.2 140100 HP Haptoglobin HP 3240 ENSG00000257017 just distal to fra16q22.1 [Anhaptoglobinemia], 614081 (3); [Hypohaptoglobinemia], 614081 (3) Hp (MGI:96211) -chr16 72063225 72077245 16q22.1 16q22.2 140210 HPR Haptoglobin-related locus HPR 3250 ENSG00000261701 2.2kb 3' to HP; multiple tandem genes in blacks Hp (MGI:96211) -chr16 72093664 72112911 16q21-q22 16q22.2 605584 DHX38, DDX38, PRP16, RP84 DEAH-box helicase 38 DHX38 9785 ENSG00000140829 Retinitis pigmentosa 84, 618220 (3), Autosomal recessive Dhx38 (MGI:1927617) -chr16 72116696 72173907 16q22.2 16q22.2 618085 PMFBP1, STAP, SPGF31 Polyamine-modulated factor 1-binding protein 1 PMFBP1 83449 ENSG00000118557 Spermatogenic failure 31, 618112 (3), Autosomal recessive Pmfbp1 (MGI:1930136) -chr16 72782884 73891930 16q22.3-q23.1 16q22.2-q22.3 104155 ZFHX3, ATBF1 Zinc finger homeobox 3 ZFHX3 463 ENSG00000140836 Prostate cancer, somatic, 176807 (3) Zfhx3 (MGI:99948) -chr16 72800000 74100000 16q22 606179 ANBC Aneurysmal bone cysts 114293 t(16:17); ?defect at 17p13 Aneurysmal bone cysts, 606179 (2) -chr16 72800000 74100000 16q22 613055 ATFB8 Atrial fibrillation, familial, 8 100306979 associated with rs7193343 Atrial fibrillation, familial, 8, 613055 (2) -chr16 72800000 74100000 16q22 614541 C16DELq22, DEL16q22 Chromosome 16q22 deletion syndrome Chromosome 16q22 deletion syndrome, 614541 (4), Isolated cases -chr16 72800000 79200000 16q22.3-q23.1 608932 KTCN2 Keratoconus 2 450092 Keratoconus 2, 608932 (2) -chr16 72800000 74100000 16q22 604901 NAIC North American Indian childhood cirrhosis North American Indian childhood cirrhosis, 604901 (2) -chr16 73092348 73093773 16q22.3 16q22.3 615613 HCCAT5, HTA Hepatocellular carcinoma-associated transcript 5 HCCAT5 283902 ENSG00000260880 -chr16 74296813 74306287 16q23-q24 16q23.1 157970 PSMD7, MOV34 Proteasome 25S subunit, non-ATPase, 7 (Moloney leukemia virus-34 proviral integration homolog) PSMD7 5713 ENSG00000103035 Psmd7 (MGI:1351511) -chr16 74408630 74422247 16q22.3 16q23.1 616572 CLEC18B C-type lectin domain family 18, member B CLEC18B 497190 ENSG00000140839 Clec18a (MGI:2672935) -chr16 74447439 74607113 16q22-q23 16q23.1 600753 GLG1 Golgi apparatus protein 1 GLG1 2734 ENSG00000090863 Glg1 (MGI:104967) -chr16 74621395 74666891 16q23.1 16q23.1 614151 RFWD3, FANCW RING finger and WD repeat domains-containing protein 3 RFWD3 55159 ENSG00000168411 mutation identified in 1 FANCW patient ?Fanconi anemia, complementation group W, 617784 (3), Autosomal recessive Rfwd3 (MGI:2384584) -chr16 74671854 74700888 16q23.1 16q23.1 615153 MLKL Mixed lineage kinase domain-like protein MLKL 197259 ENSG00000168404 Mlkl (MGI:1921818) -chr16 74712954 74774830 16q23 16q23.1 611026 FA2H, FAAH, FAXDC1, FAH1, SCS7, SPG35 Fatty acid 2-hydroxylase FA2H 79152 ENSG00000103089 Spastic paraplegia 35, autosomal recessive, 612319 (3), Autosomal recessive Fa2h (MGI:2443327) -chr16 74871361 74985122 16q23.1 16q23.1 617418 WDR59, KIAA1923 WD repeat-containing protein 59 WDR59 79726 ENSG00000103091 Wdr59 (MGI:2442115) -chr16 74999023 75110993 16q23.1 16q23.1 612060 ZNRF1, NIN283 Zinc finger and ring finger protein 1 ZNRF1 84937 ENSG00000186187 Znrf1 (MGI:2177308) -chr16 75111863 75116794 16q23.1 16q23.1 607490 LDHD, DLACD D-lactate dehydrogenase LDHD 197257 ENSG00000166816 D-lactic aciduria with susceptibility to gout, 245450 (3), Autosomal recessive Ldhd (MGI:106428) -chr16 75126284 75172233 16q23.1 16q23.1 617230 ZFP1, ZNF475 Zinc finger protein 1, mouse, homolog of ZFP1 162239 ENSG00000184517 Zfp1 (MGI:99154) -chr16 75218987 75224923 16q23.2-q23.3 16q23.1 118890 CTRB1 Chymotrypsinogen B1 CTRB1 1504 ENSG00000168925 HP-7cM-TAT-9cM-CTRB Ctrb1 (MGI:88559) -chr16 75228180 75268006 16q23.1 16q23.1 602941 BCAR1, CRKAS, CAS BCAR1 scaffold protein, CAS family member BCAR1 9564 ENSG00000050820 Bcar1 (MGI:108091) -chr16 75293709 75433502 16q22.2-q22.3 16q23.1 608108 CFDP1, CP27, BCNT Craniofacial development protein 1 CFDP1 10428 ENSG00000153774 Cfdp1 (MGI:1344403) -chr16 75472041 75495440 16q22 16q23.1 605294 CHST6, MCDC1 Carbohydrate sulfotransferase-6 (GlcNAc-6-sulfotransferase, corneal) CHST6 4166 ENSG00000183196 Macular corneal dystrophy, 217800 (3), Autosomal recessive Chst5 (MGI:1931825) -chr16 75528529 75536107 16q22 16q23.1 604817 CHST5 Carbohydrate sulfotransferase-5 (GlcNAc-6-O-sulfotransferase, intestinal) CHST5 23563 ENSG00000135702 Chst5 (MGI:1931825) -chr16 75536740 75556285 16q23.1 16q23.1 614949 TMEM231, JBTS20, MKS11 Transmembrane protein 231 TMEM231 79583 ENSG00000205084 Joubert syndrome 20, 614970 (3), Autosomal recessive; Meckel syndrome 11, 615397 (3), Autosomal recessive Tmem231 (MGI:2685024) -chr16 75566378 75577880 16q22.3-q24.1 16q23.1 607452 GABARAPL2 GABA-A receptor-associated protein-like protein 2 GABARAPL2 11345 ENSG00000034713 Gabarapl2 (MGI:1890602) -chr16 75596867 75623280 16q22.2-q22.3 16q23.1 604230 ADAT1 Adenosine deaminase, tRNA-specific, 1 ADAT1 23536 ENSG00000065457 Adat1 (MGI:1353631) -chr16 75627723 75647664 16q22.2-q22.3 16q23.1 601421 KARS1, KARS, CMTRIB, DFNB89, LEPID, DEAPLE Lysyl-tRNA synthetase 1 KARS1 3735 ENSG00000065427 mutation identified in 1 CMTRIB patient Deafness, autosomal recessive 89, 613916 (3), Autosomal recessive; Leukoencephalopathy, progressive, infantile-onset, with or without deafness, 619147 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3), Autosomal recessive; Deafness, congenital, and adult-onset progressive leukoencephalopathy, 619196 (3), Autosomal recessive Kars (MGI:1934754) -chr16 75647772 75657431 16q23.1 16q23.1 605061 TERF2IP, RAP1 Telomeric repeat binding factor 2, interacting protein TERF2IP 54386 ENSG00000166848 Terf2ip (MGI:1929871) -chr16 75693892 75701460 16q23.1 16q23.1 618698 DUXB Double homeobox B DUXB 100033411 ENSG00000282757 -chr16 75714130 75726489 16q23.1 16q23.1 618700 CPHXL, CPHXL1 Cytoplasmic polyadenylated homeobox-like CPHXL 105371346 ENSG00000283755 Cphx1 (MGI:2145733) -chr16 76277375 76563609 16q22 16q23.1 610518 CNTNAP4, CASPR4, KIAA1763 Contactin-associated protein-like 4 CNTNAP4 85445 ENSG00000152910 Cntnap4 (MGI:2183572) -chr16 77191189 77202397 16q23.1 16q23.1 608954 MON1B, SRG1, KIAA0872 Mon1, S. cerevisiae, homolog of, B MON1B 22879 ENSG00000103111 Mon1b (MGI:1923231) -chr16 77282127 77435033 16q23 16q23.1 607512 ADAMTS18, MMCAT ADAM metallopeptidase domain with thrombospondin type 1 motif, 18 ADAMTS18 170692 ENSG00000140873 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3), Autosomal recessive Adamts18 (MGI:2442600) -chr16 77722513 77742259 16q23.1 16q23.1 609231 NUDT7 Nudix hydrolase 7 NUDT7 283927 ENSG00000140876 Nudt7 (MGI:1914778) -chr16 78022547 78032100 16q23 16q23.1 613588 CLEC3A, CLECSF1 C-type lectin domain family 3, member A CLEC3A 10143 ENSG00000166509 Clec3a (MGI:2685642) -chr16 78099653 79212666 16q23.3-q24.1 16q23.1-q23.2 605131 WWOX, FOR, SCAR12, DEE28 WW domain-containing oxidoreductase WWOX 51741 ENSG00000186153 Esophageal squamous cell carcinoma, somatic, 133239 (3); Developmental and epileptic encephalopathy 28, 616211 (3), Autosomal recessive; Spinocerebellar ataxia, autosomal recessive 12, 614322 (3), Autosomal recessive Wwox (MGI:1931237) -chr16 79202623 79601951 16q22-q23 16q23.2 177075 MAF, CCA4, CTRCT21, AYGRP MAF bZIP transcription factor MAF 4094 ENSG00000178573 Cataract 21, multiple types, 610202 (3), Autosomal dominant; Ayme-Gripp syndrome, 601088 (3), Autosomal dominant Maf (MGI:96909) -chr16 79721311 79770531 16q23.2 16q23.2 616264 MAFTRR, lincMAF4 MAF transcriptional regulator FNA, noncoding MAFTRR 102467146 ENSG00000261390 -chr16 80540258 80550810 16q23.3 16q23.2 607168 DYNLRB2, DNCL2B Dynein, light chain, roadblock-type 2 DYNLRB2 83657 ENSG00000168589 Dynlrb2 (MGI:1922715) -chr16 80597898 80805042 16q23.2 16q23.2 618816 CDYL2 CDY-like protein 2 CDYL2 124359 ENSG00000166446 Cdyl2 (MGI:1923046) -chr16 80828734 80892595 16q23.2 16q23.2 618053 ARLNC1, LINC02170 Androgen receptor-regulated long noncoding RNA 1 ARLNC1 100996425 ENSG00000260896 -chr16 81007213 81033106 16q23.2 16q23.2 611509 CENPN Centromere protein N CENPN 55839 ENSG00000166451 Cenpn (MGI:1919405) -chr16 81035841 81047349 16q23.2 16q23.2 614693 ATMIN, ASCIZ, KIAA0431 ATM interactor ATMIN 23300 ENSG00000166454 Atmin (MGI:2682328) -chr16 81081944 81096394 16q24 16q23.2 238330 GCSH, NKH Glycine cleavage system H protein GCSH 2653 ENSG00000140905 mutation identified in 1 NKH patient ?Glycine encephalopathy, 605899 (3), Autosomal recessive Gcsh (MGI:1915383) -chr16 81100874 81220393 16q23.2 16q23.2 607894 PKD1L2, PC1L2, KIAA1879 Polycystin 1-like 2 PKD1L2 114780 ENSG00000166473 Pkd1l2 (MGI:2664668) -chr16 81238447 81291141 16q21-q23 16q23.2 605748 BCO1, BCMO1, BCDO Beta-carotene oxygenase 1 BCO1 53630 ENSG00000135697 mutation identified in 1 HCVAD patient ?Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3), Autosomal dominant Bco1 (MGI:1926923) -chr16 81314961 81390808 16q24.1 16q23.2 605379 GAN, GAN1 Gigaxonin GAN 8139 ENSG00000261609 Giant axonal neuropathy-1, 256850 (3), Autosomal recessive Gan (MGI:1890619) -chr16 81444807 81711761 16q24 16q23.2-q23.3 610112 CMIP, KIAA1694, TCMIP C-MAF-inducing protein CMIP 80790 ENSG00000153815 Cmip (MGI:1921690) -chr16 81600000 84100000 16q23.3 613836 ADIPQTL5 Adiponectin, serum level of, quantitative trait locus 5 100653375 associated with rs3865188 {Adiponectin, serum level of, QTL5], 613836 (2) -chr16 81600000 84100000 16q23 612727 BMND13 Bone mineral density quantitative trait locus 13 100294717 associated with rs16945612 [Bone mineral density QTL 13], 612727 (2) -chr16 81600000 84100000 16q23 608462 HSCR8 Hirschsprung disease, susceptibility to, 8 404719 {Hirschsprung disease, susceptibility to, 8}, 608462 (2) -chr16 81779290 81962684 16q24.1 16q23.3 600220 PLCG2, FCAS3, APLAID Phospholipase C, gamma 2 PLCG2 5336 ENSG00000197943 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3), Autosomal dominant; Familial cold autoinflammatory syndrome 3, 614468 (3), Autosomal dominant Plcg2 (MGI:97616) -chr16 81988854 82011525 16q23.3 16q23.3 616164 SDR42E1 Short-chain dehydrogenase/reductase family 42E, member 1 SDR42E1 93517 ENSG00000184860 Sdr42e1 (MGI:1921282) -chr16 82035252 82098533 16q24.1-q24.2 16q23.3 109685 HSD17B2, EDH17B2 Hydroxysteroid (17-beta) dehydrogenase 2 HSD17B2 3294 ENSG00000086696 Hsd17b2 (MGI:1096386) -chr16 82148161 82170223 Chr.16 16q23.3 605500 MPHOSPH6, MPP M-phase phosphoprotein 6 MPHOSPH6 10200 ENSG00000135698 Mphosph6 (MGI:1915783) -chr16 82626822 83800639 16q24.2-q24.3 16q23.3 601364 CDH13, CDHH Cadherin-13 (H-cadherin, heart) CDH13 1012 ENSG00000140945 Cdh13 (MGI:99551) -chr16 83807977 83819736 16q23.3 16q23.3 604553 HSBP1 Heat-shock factor-binding protein 1 HSBP1 3281 ENSG00000230989 Hsbp1 (MGI:1915446) -chr16 83899114 83927030 16q24 16q23.3 606761 MLYCD, MCD Malonyl-CoA decarboxylase MLYCD 23417 ENSG00000103150 Malonyl-CoA decarboxylase deficiency, 248360 (3), Autosomal recessive Mlycd (MGI:1928485) -chr16 83953239 83966331 16q23.3 16q23.3 607975 OSGIN1, OKL38 Oxidative stress-induced growth inhibitor 1 OSGIN1 29948 ENSG00000140961 Osgin1 (MGI:1919089) -chr16 83968243 84002775 16q23.3 16q23.3 618130 NECAB2 N-terminal EF-hand calcium-binding protein 2 NECAB2 54550 ENSG00000103154 Necab2 (MGI:2152211) -chr16 84009666 84043371 16q23.3 16q23.3 615585 SLC38A8, FVH2 Solute carrier family 38 (amino acid transporter), member 8 SLC38A8 146167 ENSG00000166558 Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3), Autosomal recessive Slc38a8 (MGI:2685433) -chr16 84053762 84116941 16q24 16q23.3-q24.1 603355 MBTPS1, S1P, SEDKF Membrane-bound transcription factor protease, site 1 MBTPS1 8720 ENSG00000140943 mutation identified in 1 SEDKF patient ?Spondyloepiphyseal dysplasia, Kondo-Fu type, 618392 (3), Autosomal recessive Mbtps1 (MGI:1927235) -chr16 84100000 87000000 16q24.1 607687 HDLC3 High density lipoprotein cholesterol, low serum, 3 353125 {High density lipoprotein cholesterol, low serum, 3}, 607687 (2) -chr16 84122140 84145176 16q24.2 16q24.1 619067 HSDL1 Hydroxysteroid dehydrogenase-like protein 1 HSDL1 83693 ENSG00000103160 Hsdl1 (MGI:1919802) -chr16 84145265 84178760 16q24.1 16q24.1 613190 DNAAF1, LRRC50, ODA7, CILD13 Dynein, axonemal, assembly factor 1 DNAAF1 123872 ENSG00000154099 Ciliary dyskinesia, primary, 13, 613193 (3), Autosomal recessive Dnaaf1 (MGI:1915520) -chr16 84177851 84187064 16q24 16q24.1 604905 TAF1C, TAFI110, SL1 TATA box-binding protein-associated factor 1C TAF1C 9013 ENSG00000103168 Taf1c (MGI:109576) -chr16 84218656 84240011 16q24.1 16q24.1 607603 KCNG4, KV6.3, KV6.4 Potassium channel, voltage-gated, subfamily G, member 4 KCNG4 93107 ENSG00000168418 Kcng4 (MGI:1913983) -chr16 84292232 84329849 16q24.3 16q24.1 605322 WFDC1, PS20 WAP four-disulfide core domain-1, mouse, homolog of WFDC1 58189 ENSG00000103175 Wfdc1 (MGI:1915116) -chr16 84368522 84465776 16q24.1 16q24.1 613082 ATP2C2, SPCA2, KIAA0703 ATPase, Ca(2+)-transporting, type 2C, member 2 ATP2C2 9914 ENSG00000064270 Atp2c2 (MGI:1916297) -chr16 84476354 84504707 16q24.1 16q24.1 619331 MEAK7, EAK7, TLDC1, KIAA1609 MTOR-associated protein, eak7 homolog MEAK7 57707 ENSG00000140950 Meak7 (MGI:1921597) -chr16 84565595 84618077 16q24.1 16q24.1 606748 COTL1, CLP Coactosin-like protein 1 COTL1 23406 ENSG00000103187 pseudogenes on 15, 17, and Y Cotl1 (MGI:1919292) -chr16 84699976 84779921 16q24.1 16q24.1 609818 USP10, KIAA0190 Ubiquitin-specific protein 10 USP10 9100 ENSG00000103194 Usp10 (MGI:894652) -chr16 84819980 84909509 16q24.1 16q24.1 612434 CRISPLD2 Cysteine-rich secretory protein, LCCL domain-containing, 2 CRISPLD2 83716 ENSG00000103196 Crispld2 (MGI:1926142) -chr16 84974174 85011534 16q24.1 16q24.1 614604 ZDHHC7, DHHC7 Zinc finger DHHC domain-containing protein 7 ZDHHC7 55625 ENSG00000153786 Zdhhc7 (MGI:2142662) -chr16 85027794 85094229 16q24.1 16q24.1 611675 KIAA0513 KIAA0513 gene KIAA0513 9764 ENSG00000135709 6430548M08Rik (MGI:2443793) -chr16 85098357 85112507 16q24.1 16q24.1 617274 FAM92B Family with sequence similarity 92, member B CIBAR2 339145 ENSG00000153789 Cibar2 (MGI:3588213) -chr16 85169511 85676199 16q24.1 16q24.1 616886 GSE1, KIAA0182 GSE1 coiled-coil protein GSE1 23199 ENSG00000131149 Gse1 (MGI:1098275) -chr16 85676197 85688953 16q24.1 16q24.1 610609 GINS2, PSF2 GINS complex subunit 2 GINS2 51659 ENSG00000131153 Gins2 (MGI:1921019) -chr16 85778623 85799554 16q24.1 16q24.1 604886 EMC8, NOC4 ER membrane protein complex subunit 8 EMC8 10328 ENSG00000131148 Emc8 (MGI:1343095) -chr16 85799694 85807067 16q22-qter 16q24.1 123864 COX4I1, COX4, MC4DN16 Cytochrome c oxidase, subunit IV, isoform 1 COX4I1 1327 ENSG00000131143 Mitochondrial complex IV deficiency, nuclear type 16, 619060 (3), Autosomal recessive Cox4i1 (MGI:88473) -chr16 85899161 85922608 16q24.1 16q24.1 601565 IRF8, ICSBP1, IMD32A, IMD32B Interferon regulatory factor 8 IRF8 3394 ENSG00000140968 Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3), Autosomal dominant; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3), Autosomal recessive Irf8 (MGI:96395) -chr16 86196180 86199719 16q24.1 16q24.1 614978 TCONS00024492 Long noncoding RNA TCONS_00024492 LINC01082 100506542 ENSG00000269186 -chr16 86225579 86286246 16q24.1 16q24.1 614977 LINC01081, TCONS00024764 Long intergenic non-protein coding RNA 1081 LINC01081 101154687 -chr16 86474524 86508859 16q24.1 16q24.1 614975 FENDRR, FOXF1AS1, TCONS_00024240 FOXF1 adjacent noncoding developmental regulatory RNA FENDRR 400550 ENSG00000268388 partial overlap with FOXF1 promoter Fendrr (MGI:1916040) -chr16 86510526 86515421 16q24 16q24.1 601089 FOXF1, FKHL5, ACDMPV Forkhead box F1 FOXF1 2294 ENSG00000103241 Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3), Autosomal dominant Foxf1 (MGI:1347470) -chr16 86530177 86555839 16q24.1 16q24.1 616820 MTHFSD Methenyltetrahydrofolate synthetase domain-containing protein MTHFSD 64779 ENSG00000103248 Mthfsd (MGI:2679252) -chr16 86566828 86569727 16q24.3 16q24.1 602402 FOXC2, FKHL14, MFH1 Forkhead box C2 FOXC2 2303 ENSG00000176692 Lymphedema-distichiasis syndrome, 153400 (3), Autosomal dominant; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3), Autosomal dominant Foxc2 (MGI:1347481) -chr16 86578548 86583477 16q24.1 16q24.1 603252 FOXL1, FKHL11, FREAC7, FKH6 Forkhead box L1 FOXL1 2300 ENSG00000176678 Foxl1 (MGI:1347469) -chr16 87326986 87392120 16q24.3 16q24.2 609102 FBXO31, FBX31, FBXO14, FBX14, MRT45 F-box only protein 31 FBXO31 79791 ENSG00000103264 mutation identified in 1 MRT45 family ?Mental retardation, autosomal recessive 45, 615979 (3), Autosomal recessive Fbxo31 (MGI:1354708) -chr16 87392335 87404773 16q24.2 16q24.2 609604 MAP1LC3B, LC3B Microtubule-associated protein 1, light chain 3, beta MAP1LC3B 81631 ENSG00000140941 Map1lc3b (MGI:1914693) -chr16 87601834 87698155 16q24.3 16q24.2 605268 JPH3, JP3, HDL2 Junctophilin 3 JPH3 57338 ENSG00000154118 mutation identified in 1 HDL2 family Huntington disease-like 2, 606438 (3), Autosomal dominant Jph3 (MGI:1891497) -chr16 87830021 87869506 16q24.3 16q24.2 600182 SLC7A5, D16S469E, MPE16 Solute carrier family 7, member 5 SLC7A5 8140 ENSG00000103257 Slc7a5 (MGI:1298205) -chr16 87881548 87936574 16q24.3 16q24.2 114761 CA5A, CA5AD Carbonic anhydrase VA (mitochondrial) CA5A 763 ENSG00000174990 pseudogene on 16p Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3), Autosomal recessive Car5a (MGI:101946) -chr16 87949215 88077317 16q24 16q24.2 611564 BANP, SMAR1 BTG3-associated nuclear protein BANP 54971 ENSG00000172530 Banp (MGI:1889023) -chr16 88382958 88440752 16q24 16q24.2 612078 ZNF469, KIAA1858, BCS1 Zinc finger protein 469 ZNF469 84627 ENSG00000225614 Brittle cornea syndrome 1, 229200 (3), Autosomal recessive -chr16 88451781 88537030 16q24.3 16q24.2 601950 ZFPM1, FOG, FOG1 Zinc finger protein, multitype 1 (friend of GATA1) ZFPM1 161882 ENSG00000179588 Zfpm1 (MGI:1095400) -chr16 88638571 88640467 16q24 16q24.2 604628 IL17C Interleukin 17C IL17C 27189 ENSG00000124391 Il17c (MGI:2446486) -chr16 88643288 88651078 16q24 16q24.2 608508 CYBA, CGD4 Cytochrome b-245, alpha polypeptide CYBA 1535 ENSG00000051523 Chronic granulomatous disease 4, autosomal recessive, 233690 (3), Autosomal recessive Cyba (MGI:1316658) -chr16 88651934 88663152 16q24.3 16q24.2 603236 MVD, MPD, POROK7 Mevalonate pyrophosphate decarboxylase MVD 4597 ENSG00000167508 Porokeratosis 7, multiple types, 614714 (3), Autosomal dominant Mvd (MGI:2179327) -chr16 88677687 88686506 16q24.3 16q24.2 612741 SNAI3, SNAIL3, SMUC, ZFP293 SNAIL, Drosophila, homolog of, 3 SNAI3 333929 ENSG00000185669 Snai3 (MGI:1353563) -chr16 88696498 88706420 16q24.2-q24.3 16q24.2-q24.3 617178 RNF166 RING finger protein 166 RNF166 115992 ENSG00000158717 Rnf166 (MGI:1915968) -chr16 88700000 90338345 16q24.3 612525 IHPS5 Pyloric stenosis, infantile hypertrophic, 5 100270639 between rs7197068 and rs750740 Pyloric stenosis, infantile hypertrophic, 5, 612525 (2) -chr16 88700000 90338345 16q24 613547 STQTL22 Stature quantitative trait locus 22 100529227 linked to rs299956 and rs2076962 {Stature QTL 22}, 613547 (2) -chr16 88706480 88715395 16q24.3 16q24.3 617057 CTU2, C16orf84, NCS2, MFRG Cytosolic thiouridylase, subunit 2 CTU2 348180 ENSG00000174177 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3), Autosomal recessive Ctu2 (MGI:1914215) -chr16 88715337 88785219 16q24.3 16q24.3 611184 PIEZO1, FAM38A, MIB, DHS, LMPHM6 PIEZO1 ion channel PIEZO1 9780 ENSG00000103335 Lymphatic malformation 6, 616843 (3), Autosomal recessive; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3), Autosomal dominant Piezo1 (MGI:3603204) -chr16 88803788 88809257 16q24.3 16q24.3 605525 CDT1 Chromatin licensing and DNA replication factor 1 CDT1 81620 ENSG00000167513 Meier-Gorlin syndrome 4, 613804 (3), Autosomal recessive Cdt1 (MGI:1914427) -chr16 88809338 88811927 16q24.3 16q24.3 102600 APRT, APRTD Adenine phosphoribosyltransferase APRT 353 ENSG00000198931 telomeric to GALNS, transcribed in same cen-tel direction Adenine phosphoribosyltransferase deficiency, 614723 (3), Autosomal recessive Aprt (MGI:88061) -chr16 88813733 88856965 16q24.3 16q24.3 612222 GALNS, MPS4A Galactosamine (N-acetyl)-6-sulfate sulfatase GALNS 2588 ENSG00000141012 centromeric to APRT Mucopolysaccharidosis IVA, 253000 (3), Autosomal recessive Galns (MGI:1355303) -chr16 88856219 88862677 16q22.1-q22.2 16q24.3 610970 TRAPPC2L, PERRB Trafficking protein particle complex 2-like TRAPPC2L 51693 ENSG00000167515 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 (3), Autosomal recessive Trappc2l (MGI:1916295) -chr16 88874857 88977206 16q24 16q24.3 603870 CBFA2T3, MTGR2, MTG16 Core-binding factor, alpha subunit 2, translocated to, 3 CBFA2T3 863 ENSG00000129993 Cbfa2t3 (MGI:1338013) -chr16 89093846 89160555 16q24.3 16q24.3 614245 ACSF3 Acyl-CoA synthetase family member 3 ACSF3 197322 ENSG00000176715 Combined malonic and methylmalonic aciduria, 614265 (3) Acsf3 (MGI:2182591) -chr16 89171747 89195491 16q24.3 16q24.3 114019 CDH15, CDH14, CDH3, MRD3 Cadherin-15, M-cadherin (myotubule) CDH15 1013 ENSG00000129910 tightly linked to Aprt in mouse Mental retardation, autosomal dominant 3, 612580 (3) Cdh15 (MGI:106672) -chr16 89267618 89490560 16q24.3 16q24.3 611192 ANKRD11, ANCO1, KBGS Ankyrin repeat domain-containing protein 11 ANKRD11 29123 ENSG00000167522 KBG syndrome, 148050 (3), Autosomal dominant Ankrd11 (MGI:1924337) -chr16 89508378 89557767 16q24.3 16q24.3 602783 PGN, SPG7, CMAR, CAR SPG7 matrix AAA peptidase subunit, paraplegin SPG7 6687 ENSG00000197912 Spastic paraplegia 7, autosomal recessive, 607259 (3), Autosomal dominant, Autosomal recessive Spg7 (MGI:2385906) -chr16 89560656 89566828 16q24.3 16q24.3 113703 RPL13, BBC1, D16S44E, SEMDIST Ribosomal protein L13 RPL13 6137 ENSG00000167526 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, 618728 (3), Autosomal dominant Rpl13,Gm15710 (MGI:105922,MGI:3783151) -chr16 89575757 89597245 16q24.3 16q24.3 605689 CPNE7 Copine VII CPNE7 27132 ENSG00000178773 Cpne7 (MGI:2142747) -chr16 89613307 89641539 16q24.3 16q24.3 179780 DPEP1, RDP, MDP, MBD1 Dipeptidase 1 DPEP1 1800 ENSG00000015413 Dpep1 (MGI:94917) -chr16 89644434 89657707 16q24.3 16q24.3 164010 CHMP1A, PCOLN3, PRSM1, PCH8 Charged multivesicular body protein 1A CHMP1A 5119 ENSG00000131165 Pontocerebellar hypoplasia, type 8, 614961 (3), Autosomal recessive Chmp1a (MGI:1920159) -chr16 89657775 89670457 16q24.3 16q24.3 615409 SPATA33, C16orf55 Spermatogenesis-associated protein 33 SPATA33 124045 ENSG00000167523 Spata33 (MGI:2444920) -chr16 89686611 89696353 16q24 16q24.3 603464 CDK10, PISSLRE, ALSAS Cyclin-dependent kinase 10 CDK10 8558 ENSG00000185324 Al Kaissi syndrome, 617694 (3), Autosomal recessive Cdk10 (MGI:2448549) -chr16 89707132 89721230 16q24 16q24.3 619292 VPS9D1, ATPBL VPS9 domain-containing protein 1 VPS9D1 9605 ENSG00000075399 Vps9d1 (MGI:1914143) -chr16 89720367 89740924 16q24.3 16q24.3 608460 ZFP276 Zinc finger protein 276 ZNF276 92822 ENSG00000158805 Zfp276 (MGI:1888495) -chr16 89737548 89816646 16q24.3 16q24.3 607139 FANCA, FACA, FA1, FA, FAA Fanconi anemia, complementation group A FANCA 2175 ENSG00000187741 linkage heterogeneity Fanconi anemia, complementation group A, 227650 (3), Autosomal recessive Fanca (MGI:1341823) -chr16 89828474 89871318 16q24.3 16q24.3 609217 SPIRE2, KIAA1832 Spire-type actin nucleation factor 2 SPIRE2 84501 ENSG00000204991 Spire2 (MGI:2446256) -chr16 89873591 89911383 16q24.3 16q24.3 612326 TCF25, NULP1, KIAA1049 Transcription factor 25 TCF25 22980 ENSG00000141002 Tcf25 (MGI:1914105) -chr16 89918861 89920971 16q24.3 16q24.3 155555 MC1R, SHEP2, CMM5 Melanocortin-1 receptor (alpha melanocyte-stimulating hormone receptor) MC1R 4157 ENSG00000258839 [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3), Autosomal recessive; [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3), Autosomal recessive; {Melanoma, cutaneous malignant, 5}, 613099 (3); {Albinism, oculocutaneous, type II, modifier of}, 203200 (3), Autosomal recessive; {UV-induced skin damage}, 266300 (3), Autosomal recessive Mc1r (MGI:99456) -chr16 89921924 89936096 16q24.3 16q24.3 602661 TUBB3, TUBB4, CFEOM3A, CDCBM1 Tubulin, beta-3 TUBB3 10381 ENSG00000258947 Fibrosis of extraocular muscles, congenital, 3A, 600638 (3), Autosomal dominant; Cortical dysplasia, complex, with other brain malformations 1, 614039 (3), Autosomal dominant Tubb3 (MGI:107813) -chr16 89972579 90000786 16q24 16q24.3 603020 AFG3L1, AFG3 AFG3-like matrix AAA peptidase, subunit 1, pseudogene AFG3L1P 172 ENSG00000223959 -chr16 90019628 90044959 16q24.3 16q24.3 605178 GAS8, GAS11, CILD33 Growth arrest-specific 8 GAS8 2622 ENSG00000141013 Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive Gas8 (MGI:1202386) -chr16 90028907 90029900 16q24.3 16q24.3 605179 GAS8-AS1, C16orf3, EID1 GAS8 antisense RNA 1 GAS8-AS1 750 ENSG00000221819 -chr16 90039760 90047782 16q24.3 16q24.3 615805 URAHP, URAH Urate (hydroxyiso-) hydrolase, pseudogene URAHP 100130015 ENSG00000222019 -chr16 90056565 90077338 16q24.3 16q24.3 609759 PRDM7 PR domain-containing protein 7 PRDM7 11105 ENSG00000126856 -chr16 0 90338345 Chr.16 133290 ESB3 Esterase-B3 ESB3 2097 -chr16 0 90338345 Chr.16 138060 GRLL1 Glucocorticoid receptor-like 1 NR3C1P1 2910 ENSG00000276393 -chr16 0 90338345 Chr.16 147573 IFNR Interferon production regulator IFNR 3466 -chr16 0 90338345 Chr.16 247980 LIPB Lipase B, lysosomal acid LIPB 3989 -chr16 0 90338345 Chr.16 118870 NHCP1 Nonhistone chromosomal protein-1 -chr17 0 3400000 17p13.3 113721 BCPR Breast cancer-related regulator of TP53 Breast cancer (1) -chr17 0 3400000 17p13.3 615674 DDD3 Dowling-Degos disease 3 102997065 max lod at D17S1529 Dowling-Degos disease 3, 615674 (2), Autosomal dominant -chr17 0 3400000 17p13.3 613215 DUP17p13.3, C17DUPp13.3 Chromosome 17p13.3 duplication syndrome includes LIS1 and/or YWHAE Chromosome 17p13.3 duplication syndrome, 613215 (4) -chr17 0 3400000 17p13.3 247200 MDLS, MDS, MDCR, DEL17p13.3, C17DELp13.3 Miller-Dieker lissencephaly syndrome (chromosome 17p13.3 deletion syndrome) Miller-Dieker lissencephaly syndrome, 247200 (4), Autosomal dominant -chr17 0 16100000 17p13.3-p12 616964 MSPC Palmoplantar carcinoma, multiple self-healing between rs8065368 and rs2322788 Palmoplantar carcinoma, multiple self-healing, 616964 (2) -chr17 0 10800000 17p13.3-p13.1 612576 SHFLD3, DUP17p13.3, C17DUPp13.3 Split-hand/foot malformation with long bone deficiency 3 max lod at or near D17S1533; contiguous gene duplication syndrome Split-hand/foot malformation with long bone deficiency 3, 612576 (4), Autosomal dominant -chr17 142788 181649 17p13.3 17p13.3 604568 DOC2B Double C2-like domain-containing protein, beta DOC2B 8447 ENSG00000272636 Doc2b (MGI:1100497) -chr17 212388 352806 17p13.3 17p13.3 604881 RPH3AL, NOC2 Rabphilin 3A-like RPH3AL 9501 ENSG00000181031 Rph3al (MGI:1923492) -chr17 439977 445939 17p13.3 17p13.3 615928 FAM101B, CFM1 Family with sequence similarity 101, member B RFLNB 359845 ENSG00000183688 Rflnb (MGI:1923816) -chr17 508667 714845 17p13.3 17p13.3 615850 VPS53, HCCS1, PCH2E VPS53 subunit of GARP complex VPS53 55275 ENSG00000141252 Pontocerebellar hypoplasia, type 2E, 615851 (3), Autosomal recessive Vps53 (MGI:1915549) -chr17 732595 742967 17p13.3 17p13.3 611627 FAM57A, CT120 Family with sequence similarity 57, member A TLCD3A 79850 ENSG00000167695 Tlcd3a (MGI:2151840) -chr17 744420 752867 17p13.3 17p13.3 606969 GEMIN4, NEDMCR Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities GEMIN4 50628 ENSG00000179409 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3), Autosomal recessive Gemin4 (MGI:2449313) -chr17 782352 792508 17p13.3 17p13.3 612600 RNMTL1, HC90 RNA methyltransferase-like 1 MRM3 55178 ENSG00000171861 Mrm3 (MGI:1914640) -chr17 799309 979775 17p13.3 17p13.3 612895 NXN, RRS2 Nucleoredoxin NXN 64359 ENSG00000167693 Robinow syndrome, autosomal recessive 2, 618529 (3), Autosomal recessive Nxn (MGI:109331) -chr17 997128 1003670 17p13.3 17p13.3 607251 TIMM22, TIM22, COXPD43 Translocase of inner mitochondrial membrane 22 TIMM22 29928 ENSG00000177370 mutation identified in 1 COXPD43 patient ?Combined oxidative phosphorylation deficiency 43, 618851 (3), Autosomal recessive Timm22 (MGI:1929742) -chr17 1003518 1229721 17p13.3 17p13.3 600365 ABR ABR activator of RhoGEF and GTPase ABR 29 ENSG00000159842 Abr (MGI:107771) -chr17 1270443 1271814 17p13.3 17p13.3 615416 BHLHA9, BHLHF42, MSSD, CCSPD Basic helix-loop-helix family, member A9 BHLHA9 727857 ENSG00000205899 mutation identified in 1 CCSPD family ?Camptosynpolydactyly, complex, 607539 (3), Autosomal recessive; Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3), Autosomal recessive Bhlha9 (MGI:2444198) -chr17 1279661 1300977 17p13.3 17p13.3 612211 TUSC5, LOST1 Tumor suppressor candidate 5 TRARG1 286753 ENSG00000184811 Trarg1 (MGI:3029307) -chr17 1344274 1400228 17p13.3 17p13.3 605066 YWHAE, MDCR, MDS Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform YWHAE 7531 ENSG00000108953 Ywhae (MGI:894689) -chr17 1420692 1456231 17p13.3 17p13.3 164762 CRK Avian sarcoma virus CT10 (v-crk) oncogene homolog CRK 1398 ENSG00000167193 Crk (MGI:88508) -chr17 1464185 1492685 17p13 17p13.3 606538 MYO1C Myosin IC MYO1C 4641 ENSG00000197879 Myo1c (MGI:106612) -chr17 1494574 1516734 17p13.3 17p13.3 607875 INPP5K, SKIP, MDCCAID Inositol polyphosphate-5-phosphatase K INPP5K 51763 ENSG00000132376 Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive Inpp5k (MGI:1194899) -chr17 1517717 1562802 17p13.3 17p13.3 600174 PITPNA, PITPN Phosphotidylinositol transfer protein, alpha PITPNA 5306 ENSG00000174238 Pitpna (MGI:99887) -chr17 1569253 1630013 17p13.3 17p13.3 610791 SLC43A2, LAT4 Solute carrier family 43 (L-type amino acid transporter, member 2 SLC43A2 124935 ENSG00000167703 Slc43a2 (MGI:2442746) -chr17 1633857 1645731 17p13.3 17p13.3 607873 SCARF1, SREC, KIAA0149 Scavenger receptor class F, member 1 SCARF1 8578 ENSG00000074660 Scarf1 (MGI:2449455) -chr17 1646149 1650076 17p13.3 17p13.3 607848 RILP RAB-interacting lysosomal protein RILP 83547 ENSG00000167705 Rilp (MGI:2144271) -chr17 1650628 1684879 17p13.3 17p13.3 607300 PRPF8, PRPC8, RP13 Pre-mRNA processing factor 8 PRPF8 10594 ENSG00000174231 Retinitis pigmentosa 13, 600059 (3), Autosomal dominant Prpf8 (MGI:2179381) -chr17 1713902 1713986 17p13.3 17p13.3 612077 MIR22, MIRN22 Micro RNA 22 MIR22 407004 ENSG00000283824 Mir22 (MGI:2676896) -chr17 1716522 1738584 17p13.3 17p13.3 614218 WDR81, CAMRQ2, HYC3 WD repeat-containing protein 81 WDR81 124997 ENSG00000167716 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3), Autosomal recessive; Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3), Autosomal recessive Wdr81 (MGI:2681828) -chr17 1742807 1755264 17pter-p12 17p13.3 613168 PLI, SERPINF2 Alpha-2-plasmin inhibitor SERPINF2 5345 ENSG00000167711 Alpha-2-plasmin inhibitor deficiency, 262850 (3), Autosomal recessive Serpinf2 (MGI:107173) -chr17 1762059 1777564 17p13.3 17p13.3 172860 SERPINF1, PEDF, OI6 Serpin peptidase inhibitor, clade F, member 1 SERPINF1 5176 ENSG00000132386 same region as RP13 Osteogenesis imperfecta, type VI, 613982 (3), Autosomal recessive Serpinf1 (MGI:108080) -chr17 1779484 1829901 17p13.3 17p13.3 619134 SMYD4 SET and MYND domain-containing protein 4 SMYD4 114826 ENSG00000186532 Smyd4 (MGI:2442796) -chr17 1830004 1900081 17p13.3 17p13.3 179835 RPA1 Replication protein A1, 70kD RPA1 6117 ENSG00000132383 Rpa1 (MGI:1915525) -chr17 1934676 2025333 17p13.3 17p13.3 610461 RTN4RL1, NGRH2, NGR3 Reticulon 4 receptor-like 1 RTN4RL1 146760 ENSG00000185924 Rtn4rl1 (MGI:2661375) -chr17 2030111 2043897 17p13.3 17p13.3 603527 DPH1, DPH2L1, OVCA1, DEDSSH Diphthamide biosynthesis protein 1 DPH1 1801 ENSG00000108963 Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 (3), Autosomal recessive Dph1 (MGI:2151233) -chr17 2042021 2043424 17p13.3 17p13.3 607896 OVCA2 OVCA2 serine hydrolase domain-containing protein OVCA2 124641 ENSG00000262664 Ovca2 (MGI:2179725) -chr17 2049907 2050007 17p13.3 17p13.3 610016 MIR132, MIRN132 Micro RNA 132 MIR132 406921 ENSG00000267200 Mir132 (MGI:2676817) -chr17 2050270 2050379 17p13.3 17p13.3 613487 MIR212, MIRN212 Micro RNA 212 MIR212 406994 ENSG00000267195 Mir212 (MGI:2676888) -chr17 2055102 2063240 17p13.3 17p13.3 603825 HIC1 Hypermethylated in cancer HIC1 3090 ENSG00000177374 Hic1 (MGI:1338010) -chr17 2059838 2303835 17p13.3 17p13.3 610963 SMG6, EST1A, KIAA0732 SMG6 nonsense-mediated mRNA decay factor SMG6 23293 ENSG00000070366 Smg6 (MGI:2144117) -chr17 2303370 2325266 17p13.3 17p13.3 606477 SRR Serine racemase SRR 63826 ENSG00000167720 Srr (MGI:1351636) -chr17 2322395 2336456 17p13.3 17p13.3 611214 TSR1, KIAA1401 TSR1, 20S r RNA accumulation, S. cerevisiae, homolog of TSR1 55720 ENSG00000167721 Tsr1 (MGI:2144566) -chr17 2336491 2381073 17p13.3 17p13.3 611418 SGSM2, KIAA0397 Small G protein signaling modulator 2 SGSM2 9905 ENSG00000141258 Sgsm2 (MGI:2144695) -chr17 2384072 2401059 17p13.3 17p13.3 603039 MNT, ROX MAX-binding protein MNT 4335 ENSG00000070444 Mnt (MGI:109150) -chr17 2593209 2685616 17p13.3 17p13.3 601545 PAFAH1B1, LIS1 Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit PAFAH1B1 5048 ENSG00000007168 Subcortical laminar heterotopia, 607432 (3), Autosomal dominant; Lissencephaly 1, 607432 (3), Autosomal dominant Pafah1b1 (MGI:109520) -chr17 2689386 2712019 17p13.3 17p13.3 616184 CLUH, CLU1, KIAA0664 Clustered mitochondria, D. discoideum, homolog of CLUH 23277 ENSG00000132361 Cluh (MGI:1921398) -chr17 2755685 3037740 17p13.3 17p13.3 618714 RAP1GAP2, GARNL4, KIAA1039 RAP1 GTPase-activating protein 2 RAP1GAP2 23108 ENSG00000132359 Rap1gap2 (MGI:3028623) -chr17 3088483 3104421 17p13.3 17p13.3 164342 OR1D2, OLFR1 Olfactory receptor, family 1, subfamily D, member 2 OR1D2 4991 ENSG00000184166 cluster of 16 genes in 350kb Olfr412 (MGI:3030246) -chr17 3197518 3198447 17p13.3 17p13.3 618047 OR1A2 Olfactory receptor, family 1, subfamily A, member 2 OR1A2 26189 ENSG00000172150 Olfr403,Olfr43 (MGI:3030237,MGI:1333770) -chr17 3207666 3218895 17p13.3 17p13.3 618046 OR1A1 Olfactory receptor, family 1, subfamily A, member 1 OR1A1 8383 ENSG00000172146 Olfr403,Olfr43 (MGI:3030237,MGI:1333770) -chr17 3400000 10800000 17p13.2-p13.1 614341 MRT33 Mental retardation, autosomal recessive 33 100852394 between rs1367950 and rs1826925 Mental retardation, autosomal recessive 33, 614341 (2), Autosomal recessive -chr17 3440018 3513857 17p13.2 17p13.2 617673 SPATA22 Spermatogenesis-associated protein 22 SPATA22 84690 ENSG00000141255 Spata22 (MGI:2685728) -chr17 3473645 3503404 17pter-p13 17p13.2 608034 ASPA Aspartoacylase (aminoacylase-2) ASPA 443 ENSG00000108381 Canavan disease, 271900 (3), Autosomal recessive Aspa (MGI:87914) -chr17 3510501 3557811 17p13 17p13.2 607066 TRPV3, OLMS1, FNEPPK2 Transient receptor potential cation channel, subfamily V, member 3 TRPV3 162514 ENSG00000167723 mutation identified in 1 FNEPPK2 family ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3), Autosomal dominant; Olmsted syndrome 1, 614594 (3), Autosomal dominant Trpv3 (MGI:2181407) -chr17 3565445 3609410 17p13 17p13.2 602076 TRPV1, VR1 Transient receptor potential cation channel, subfamily V, member 1 (vanilloid receptor 1; capsaicin receptor) TRPV1 7442 ENSG00000196689 Trpv1 (MGI:1341787) -chr17 3608239 3636249 17p13 17p13.2 605060 SHPK, CARKL Sedoheptulokinase SHPK 23729 ENSG00000197417 [Sedoheptulokinase deficiency], 617213 (3), Autosomal recessive Shpk (MGI:1921887) -chr17 3636458 3663102 17p13 17p13.2 606272 CTNS Cystinosin CTNS 1497 ENSG00000040531 ?3 allelic forms Cystinosis, nephropathic, 219800 (3), Autosomal recessive; Cystinosis, ocular nonnephropathic, 219750 (3), Autosomal recessive; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3), Autosomal recessive; Cystinosis, atypical nephropathic, 219800 (3), Autosomal recessive Ctns (MGI:1932872) -chr17 3662894 3668577 17p13 17p13.2 616484 TAX1BP3, TIP1 TAX1-binding protein 3 TAX1BP3 30851 ENSG00000213977 Tax1bp3 (MGI:1923531) -chr17 3673226 3696154 17p13.2 17p13.2 602836 P2RX5 Purinergic receptor P2X, ligand-gated ion channel, 5 P2RX5 5026 ENSG00000083454 P2rx5 (MGI:2137026) -chr17 3714627 3803765 17p13 17p13.2 604682 ITGAE, CD103 Integrin, alpha-E ITGAE 3682 ENSG00000083457 Itgae (MGI:1298377) -chr17 3723902 3726698 17p13.2 17p13.2 609240 HASPIN, GSG2 Histone H3-associated protein kinase HASPIN 83903 ENSG00000177602 Haspin (MGI:1194498) -chr17 3802157 3846245 17p13.2 17p13.2 616624 NCBP3, C17orf85 Nuclear cap-binding protein 3 NCBP3 55421 ENSG00000074356 Ncbp3 (MGI:1914124) -chr17 3860314 3895632 17p13.2 17p13.2 611411 CAMKK1, CAMKKA Calcium/calmodulin-dependent protein kinase kinase 1, alpha CAMKK1 84254 ENSG00000004660 Camkk1 (MGI:1891766) -chr17 3896590 3916505 17p13.3 17p13.2 600845 P2RX1, P2X1 Purinergic receptor P2X, ligand-gated ion channel, 1 P2RX1 5023 ENSG00000108405 P2rx1 (MGI:1098235) -chr17 3923868 3964463 17p13.3 17p13.2 601929 ATP2A3, SERCA3 ATPase, Ca(2+)-transporting, ubiquitous ATP2A3 489 ENSG00000074370 Atp2a3 (MGI:1194503) -chr17 4004444 4143029 17p13.2 17p13.2 619459 ZZEF1, KIAA0399 Zinc finger ZZ-type domain- and EF-hand domain-containing protein 1 ZZEF1 23140 ENSG00000074755 Zzef1 (MGI:2444286) -chr17 4163819 4263978 17p13.2 17p13.2 607927 ANKFY1, ANKHZN, KIAA1255 Ankyrin repeats- and FYVE domain-containing protein 1 ANKFY1 51479 ENSG00000185722 Ankfy1 (MGI:1337008) -chr17 4269258 4366674 17p13.2 17p13.2 601569 UBE2G Ubiquitin-conjugating enzyme E2G (UBC7, C. elegans, homolog of) UBE2G1 7326 ENSG00000132388 possible pseudogene on 1q42 Ube2g1 (MGI:1914378) -chr17 4433939 4488203 17p13.2 17p13.2 611701 SPNS3 Spinster, Drosophila, homolog of, 3 SPNS3 201305 ENSG00000182557 Spns3 (MGI:1924827) -chr17 4498880 4539034 17p13.2 17p13.2 612584 SPNS2, DFNB115 Sphingolipid transporter 2 SPNS2 124976 ENSG00000183018 mutation identified in 1 DFNB115 patient ?Deafness, autosomal recessive 115, 618457 (3), Autosomal recessive Spns2 (MGI:2384936) -chr17 4538903 4555383 17p13.3 17p13.2 604885 MYBBP1A, P160 MYB-binding protein 1A MYBBP1A 10514 ENSG00000132382 Mybbp1a (MGI:106181) -chr17 4556926 4560919 17p13.2 17p13.2 612341 GGT6 Gamma-glutamyltransferase 6 GGT6 124975 ENSG00000167741 Ggt6 (MGI:1918772) -chr17 4630918 4641677 17p13.3 17p13.2 152392 ALOX15 Arachidonate 15-lipoxygenase ALOX15 246 ENSG00000161905 Alox15 (MGI:87997) -chr17 4669773 4704136 17p13.3 17p13.2 609455 PELP1, MNAR Proline-, glutamic acid-, and leucine-rich protein 1 PELP1 27043 ENSG00000141456 Pelp1 (MGI:1922523) -chr17 4710618 4721499 17p13 17p13.2 107941 ARRB2 Arrestin, beta 2 ARRB2 409 ENSG00000141480 Arrb2 (MGI:99474) -chr17 4731427 4733606 17p13.2 17p13.2 612383 MED11 Mediator complex subunit 11 MED11 400569 ENSG00000161920 Med11 (MGI:1913422) -chr17 4733532 4739927 17p13 17p13.2 605398 CXCL16 CXC chemokine ligand-16 CXCL16 58191 ENSG00000161921 Cxcl16 (MGI:1932682) -chr17 4739832 4746118 17p13.2 17p13.2 614312 ZMYND15, SPGF14 Zinc finger MYND-containing protein 15 ZMYND15 84225 ENSG00000141497 mutation identified in 1 SPGF14 family ?Spermatogenic failure 14, 615842 (3), Autosomal recessive Zmynd15 (MGI:3603821) -chr17 4771885 4783210 17p13.3 17p13.2 604657 TM4SF5 Transmembrane 4 superfamily, member 5 TM4SF5 9032 ENSG00000142484 Tm4sf5 (MGI:1922854) -chr17 4796163 4798494 17p13.2 17p13.2 600307 PSMB6, LMPY Proteasome subunit, beta-type, 6 PSMB6 5694 ENSG00000142507 Psmb6 (MGI:104880) -chr17 4807151 4823431 17p13.1 17p13.2 602384 PLD2 Phospholipase D2 PLD2 5338 ENSG00000129219 Pld2 (MGI:892877) -chr17 4833339 4898060 17p13.1 17p13.2 609426 MINK1, MINK Misshapen/nik-related kinase 1 MINK1 50488 ENSG00000141503 Mink1 (MGI:1355329) -chr17 4897770 4905018 17p13-p12 17p13.2 100725 CHRNE, SCCMS, CMS4A, CMS4B, CMS4C Cholinergic receptor, nicotinic, epsilon polypeptide CHRNE 1145 ENSG00000108556 Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3), Autosomal dominant, Autosomal recessive; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3), Autosomal recessive; Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3), Autosomal recessive Chrne (MGI:87894) -chr17 4932276 4935022 17pter-p12 17p13.2 606672 GP1BA, BSS, BDPLT1, VWDP, BDPLT3 Glycoprotein Ib, platelet, alpha polypeptide GP1BA 2811 ENSG00000185245 Bernard-Soulier syndrome, type A1 (recessive), 231200 (3), Autosomal recessive; Bernard-Soulier syndrome, type A2 (dominant), 153670 (3), Autosomal dominant; von Willebrand disease, platelet-type, 177820 (3), Autosomal dominant; {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3), Autosomal recessive Gp1ba (MGI:1333744) -chr17 4937129 4940250 17p13.3 17p13.2 604165 SLC25A11, SLC20A4, OGC, PGL6 Solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 SLC25A11 8402 ENSG00000108528 Paragangliomas 6, 618464 (3), Autosomal dominant Slc25a11 (MGI:1915113) -chr17 4940091 4945221 17p13.2 17p13.2 610431 RNF167, RING105 RING finger protein 167 RNF167 26001 ENSG00000108523 Rnf167 (MGI:1917760) -chr17 4945651 4948529 17p13.3 17p13.2 176610 PFN1, ALS18 Profilin-1 PFN1 5216 ENSG00000108518 Amyotrophic lateral sclerosis 18, 614808 (3) Pfn1 (MGI:97549) -chr17 4949181 4957130 17pter-p12 17p13.2 131370 ENO3, GSD13 Enolase-3, beta, muscle ENO3 2027 ENSG00000108515 mutation identified in 1 GSD13 patient ?Glycogen storage disease XIII, 612932 (3), Autosomal recessive Eno3 (MGI:95395) -chr17 4959225 4967816 17p13.2 17p13.2 610056 SPAG7 Sperm-associated antigen 7 SPAG7 9552 ENSG00000091640 Spag7 (MGI:107380) -chr17 4967992 4988280 17p13.2 17p13.2 611508 CAMTA2, KIAA0909 Calmodulin-binding transcription activator 2 CAMTA2 23125 ENSG00000108509 Camta2 (MGI:2135957) -chr17 4988129 5006092 17p13 17p13.2 617374 INCA1, HSD45 Inhibitor of CDK, cyclin A1-interacting protein 1 INCA1 388324 ENSG00000196388 Inca1 (MGI:2144284) -chr17 4997949 5028400 17p13.2 17p13.2 603060 KIF1C, LTXS1, KIAA0706, SPAX2 Kinesin family member 1C KIF1C 10749 ENSG00000129250 Spastic ataxia 2, autosomal recessive, 611302 (3), Autosomal recessive Kif1c (MGI:1098260) -chr17 5032601 5035425 17p13.2 17p13.2 607883 SLC52A1, GPR172B, GPCR42, PAR2, FLJ10060, RBFVD Solute carrier family 52, riboflavin transporter, member 1 SLC52A1 55065 ENSG00000132517 Riboflavin deficiency, 615026 (3), Autosomal dominant Slc52a2 (MGI:1289288) -chr17 5078466 5096373 17pter-p12 17p13.2 194480 ZFP3 Zinc finger protein-3 ZFP3 124961 ENSG00000180787 probably in cluster with ZNF29 proximal to TP53 Zfp3 (MGI:99177) -chr17 5105733 5123115 17p13.2 17p13.2 616463 ZNF232, ZSCAN11 Zinc finger protein 232 ZNF232 7775 ENSG00000167840 -chr17 5116031 5175031 17p13 17p13.2 604334 USP6, TRE2 Ubiquitin-specific protease 6 USP6 9098 ENSG00000129204 Usp32 (MGI:2144475) -chr17 5208919 5234859 17p13.2 17p13.2 614406 SCIMP, C17orf87 SLP adaptor- and CSK-interacting membrane protein SCIMP 388325 ENSG00000161929 Scimp (MGI:3610314) -chr17 5282271 5386339 17p13 17p13.2 603616 RABEP1, RABPT5 RAB GTPase-binding effector protein 1 RABEP1 9135 ENSG00000029725 fused to PDGFRB in CMML Rabep1 (MGI:1860236) -chr17 5384832 5419661 17p13 17p13.2 602552 NUP88, FADS4 Nucleoporin, 88-kD NUP88 4927 ENSG00000108559 Fetal akinesia deformation sequence 4, 618393 (3), Autosomal recessive Nup88 (MGI:104900) -chr17 5420166 5432878 17p13 17p13.2 617299 RPAIN, RIP RPA-interacting protein RPAIN 84268 ENSG00000129197 Rpain (MGI:1916973) -chr17 5432776 5439154 17p13.3 17p13.2 601269 C1QBP, HABP1, COXPD33 Complement component C1q binding protein (hyaluronic acid-binding protein 1) C1QBP 708 ENSG00000108561 Combined oxidative phosphorylation deficiency 33, 617713 (3), Autosomal recessive C1qbp (MGI:1194505) -chr17 5440916 5469054 17p13.2 17p13.2 614405 DHX33 DEAH-box helicase 33 DHX33 56919 ENSG00000005100 Dhx33 (MGI:2445102) -chr17 5471253 5486224 17p13.2 17p13.2 610304 DERL2 DER1-like domain family, member 2 DERL2 51009 ENSG00000072849 Derl2 (MGI:2151483) -chr17 5486373 5490813 17p13.2 17p13.2 609178 MIS12 MIS12 kinetochore complex component MIS12 79003 ENSG00000167842 Mis12 (MGI:1914389) -chr17 5501395 5584508 17p13 17p13.2 606636 NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, VAMAS1, MSPC, AIADK, JRRP NLR family, pyrin domain containing 1 NLRP1 22861 ENSG00000091592 mutation identified in 1 JRRP family {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3); ?Respiratory papillomatosis, juvenile recurrent, congenital, 618803 (3), Autosomal recessive; Autoinflammation with arthritis and dyskeratosis, 617388 (3), Autosomal dominant, Autosomal recessive; Palmoplantar carcinoma, multiple self-healing, 615225 (3), Autosomal dominant Nlrp1b,Nlrp1a (MGI:2684861,MGI:3582959) -chr17 6423737 6435120 17p13.1 17p13.2 604392 AIPL1, LCA4 Arylhydrocarbon-interacting receptor protein-like 1 AIPL1 23746 ENSG00000129221 LCA1 due to GUCY2D mutation also on 17p13.1 Leber congenital amaurosis 4, 604393 (3), Autosomal dominant, Autosomal recessive; Retinitis pigmentosa, juvenile, 604393 (3), Autosomal dominant, Autosomal recessive; Cone-rod dystrophy, 604393 (3), Autosomal dominant, Autosomal recessive Aipl1 (MGI:2148800) -chr17 6444454 6451468 17p13.2 17p13.2 617611 PIMREG, RCS1, FAM64A PICALM-interacting mitotic regulator PIMREG 54478 ENSG00000129195 Pimreg (MGI:1924434) -chr17 6451262 6556554 17p13.1 17p13.2-p13.1 608921 PITPNM3, NIR1, CORD5 Phosphatidylinositol transfer protein, membrane-associated, 3 PITPNM3 83394 ENSG00000091622 Cone-rod dystrophy 5, 600977 (3), Autosomal dominant Pitpnm3 (MGI:2685726) -chr17 6500000 10800000 17p13 608631 ASPG2 Asperger syndrome, susceptibility to, 2 431711 breakpoints between CHRNE and GP1BA {Asperger syndrome susceptibility 2}, 608631 (2), Multifactorial, Isolated cases -chr17 6500000 10800000 17p13 601202 CTRCT24, CTAA2 Cataract 24, anterior polar 1484 Cataract 24, anterior polar, 601202 (2), Autosomal dominant -chr17 6500000 10800000 17p13.1 613776 DEL17p13.1, C17DELp13.1 Chromosome 17p13.1 deletion syndrome contiguous gene deletion syndrome Chromosome 17p13.1 deletion syndrome, 613776 (4), Autosomal dominant -chr17 6500000 10800000 17p13.1 610208 MGR10 Migraine with or without aura, susceptibility to, 10 117204002 {Migraine with or without aura, susceptibility to, 10}, 610208 (2), Autosomal dominant -chr17 6500000 10800000 17p13 605779 NDNC7 Nail disorder, nonsyndromic congenital, 7 (onychodysplasia, isolated congenital) 81866 Nail disorder, nonsyndromic congenital, 7, 605779 (2), Autosomal dominant -chr17 6500000 83257441 17p13.1-q25 600720 NOS2P1, NOS2C Nitric oxide synthase 2 pseudogene 1 NOS2P1 645740 -chr17 6500000 10800000 17p13 613498 SXGQTL1 Sex hormone-binding globulin circulating level quantitative trait locus 1 100528025 associated with rs1799941 [Sex hormone-binding globulin circulating level QTL 1], 613498 (2) -chr17 6578146 6640729 17p13.1 17p13.1 617112 KIAA0753, OFIP, OFD15, JBTS38, SRTD21 KIAA0753 gene KIAA0753 9851 ENSG00000198920 mutation identified in 1 OFD15 patient and 1 JBTS38 family ?Orofaciodigital syndrome XV, 617127 (3), Autosomal recessive; ?Joubert syndrome 38, 619476 (3), Autosomal recessive; Short-rib thoracic dysplasia 21 without polydactyly, 619479 (3), Autosomal recessive 4933427D14Rik (MGI:1921727) -chr17 6641059 6644540 17p13.1 17p13.1 616967 TXNDC17, TRP14, TXNL5 Thioredoxin domain-containing protein 17 TXNDC17 84817 ENSG00000129235 Txndc17 (MGI:1289248) -chr17 6684718 6713399 17p13-p12 17p13.1 608305 SLC13A5, NACT, DEE25 Solute carrier family 13 (sodium-dependent citrate transporter), member 5 SLC13A5 284111 ENSG00000141485 Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta, 615905 (3), Autosomal recessive Slc13a5 (MGI:3037150) -chr17 6755407 6775646 17p13.2 17p13.1 606717 XAF1 XIAP-associated factor 1 XAF1 54739 ENSG00000132530 Xaf1 (MGI:3772572) -chr17 6776214 6787645 17p13.2 17p13.1 609106 FBXO39, FBX39 F-box protein 39 FBXO39 162517 ENSG00000177294 Fbxo39 (MGI:3505735) -chr17 6797992 6831733 17p13.1 17p13.1 609002 TEKT1 Tektin 1 TEKT1 83659 ENSG00000167858 Tekt1 (MGI:1333819) -chr17 6993790 7010753 17p13.1 17p13.1 152391 ALOX12 Arachidonate 12-lipoxygenase ALOX12 239 ENSG00000108839 pseudogene also on chr.17 Alox12 (MGI:87998) -chr17 7012623 7014531 17p13.1 17p13.1 617098 RNASEK Ribonuclease K RNASEK 440400 ENSG00000219200 Rnasek (MGI:106369) -chr17 7014781 7017519 17p13.1 17p13.1 617215 C17orf49, BAP18 Chromosome 17 open reading frame 49 C17orf49 124944 ENSG00000258315 0610010K14Rik (MGI:1915609) -chr17 7017614 7017700 17p13.1 17p13.1 610718 MIR195, MIRN195 Micro RNA 195 MIR195 406971 ENSG00000284112 Mir195a (MGI:2676859) -chr17 7017910 7018021 17p13.1 17p13.1 615672 MIR497 Micro RNA 497 MIR497 574456 ENSG00000284027 Mir497 (MGI:3629886) -chr17 7023049 7029643 17p13.1 17p13.1 608992 BCL6B, BAZF BCL6B transcription repressor BCL6B 255877 ENSG00000161940 Bcl6b (MGI:1278332) -chr17 7041620 7044410 17p13.2 17p13.1 615765 SLC16A11, MCT11 Solute carrier family 16, member 11 SLC16A11 162515 ENSG00000174326 Slc16a11 (MGI:2663709) -chr17 7074536 7080306 17p13.1 17p13.1 605999 CLEC10A, CLECSF14, MGL, HML, CD301 C-type lectin domain family 10, member A CLEC10A 10462 ENSG00000132514 Clec10a,Mgl2 (MGI:2385729,MGI:96975) -chr17 7101321 7115537 17p 17p13.1 108361 ASGR2 Asialoglycoprotein receptor-2 ASGR2 433 ENSG00000161944 Asgr2 (MGI:88082) -chr17 7173430 7179425 17p13-p11 17p13.1 108360 ASGR1 Asialoglycoprotein receptor-1 ASGR1 432 ENSG00000141505 Asgr1 (MGI:88081) -chr17 7187186 7220049 17p13.1 17p13.1 602887 DLG4, PSD95, SAP90, MRD62 Discs large MAGUK scaffold protein 4 DLG4 1742 ENSG00000132535 Intellectual developmental disorder 62, 618793 (3), Autosomal dominant Dlg4 (MGI:1277959) -chr17 7217124 7225265 17p13 17p13.1 609575 ACADVL, VLCAD Acyl-Coenzyme A dehydrogenase, very long chain ACADVL 37 ENSG00000072778 VLCAD deficiency, 201475 (3), Autosomal recessive Acadvl (MGI:895149) -chr17 7225340 7234543 17p13.1 17p13.1 602151 DVL2 Dishevelled 2 DVL2 1856 ENSG00000004975 Dvl2 (MGI:106613) -chr17 7235031 7239655 17p13 17p13.1 612910 PHF23 PHD finger protein 23 PHF23 79142 ENSG00000040633 Phf23 (MGI:1925496) -chr17 7240007 7242448 17p13.1 17p13.1 605125 GABARAP GABA-A receptor-associated protein GABARAP 11337 ENSG00000170296 Gabarap (MGI:1861742) -chr17 7243590 7251977 17p13.1 17p13.1 610684 CTDNEP1, DULLARD C-terminal domain nuclear envelope phosphatase 1 CTDNEP1 23399 ENSG00000175826 Ctdnep1 (MGI:1914431) -chr17 7251723 7259939 17p13.1 17p13.1 615019 ELP5, DERP6, C17orf81 Elongator acetyltransferase complex, subunit 5 ELP5 23587 ENSG00000170291 Elp5 (MGI:1859017) -chr17 7259902 7263212 17p13.1 17p13.1 609131 CLDN7 Claudin 7 CLDN7 1366 ENSG00000181885 Cldn7 (MGI:1859285) -chr17 7281717 7288256 17p13 17p13.1 138190 SLC2A4, GLUT4 Solute carrier family 2 (facilitated glucose transporter), member 4 SLC2A4 6517 ENSG00000181856 Slc2a4 (MGI:95758) -chr17 7288253 7294638 17p13.1 17p13.1 611447 YBX2, MSY2, CSDA3, DBPC Y box-binding protein 2 YBX2 51087 ENSG00000006047 Ybx2 (MGI:1096372) -chr17 7306998 7312462 17p13-p12 17p13.1 600187 EIF5A, FABAS Eukaryotic translation initiation factor-5A EIF5A 1984 ENSG00000132507 Faundes-Banka syndrome, 619376 (3), Autosomal dominant Eif5a (MGI:106248) -chr17 7312660 7315359 17p13.1 17p13.1 601935 GPS2 G protein pathway suppressor 2 GPS2 2874 ENSG00000132522 Gps2 (MGI:1891751) -chr17 7315627 7329334 17p13.1 17p13.1 615865 NEURL4, KIAA1787 Neuralized E3 ubiquitin protein ligase 4 NEURL4 84461 ENSG00000215041 Neurl4 (MGI:1921092) -chr17 7352161 7354943 17p13.2 17p13.1 609848 KCTD11, REn Potassium channel tetramerization domain-containing protein 11 KCTD11 147040 ENSG00000213859 Kctd11 (MGI:2448712) -chr17 7336505 7354943 Chr.17 17p13.1 607763 CENTB1, KIAA0050, ACAP1 Centaurin, beta-1 ACAP1 9744 ENSG00000072818 Acap1 (MGI:2388270) -chr17 7354967 7357218 17p13.1 17p13.1 617814 TMEM95 Transmembrane protein 95 TMEM95 339168 ENSG00000182896 Tmem95 (MGI:3779488) -chr17 7380558 7389963 17p13.1 17p13.1 608076 TNK1 Tyrosine kinase, nonreceptor, 1 TNK1 8711 ENSG00000174292 Tnk1 (MGI:1930958) -chr17 7389726 7394524 17p13.1 17p13.1 607611 PLSCR3 Phospholipid scramblase 3 PLSCR3 57048 ENSG00000187838 Plscr3 (MGI:1917560) -chr17 7402974 7404096 17p13.1 17p13.1 617779 TMEM256, C17orf61 Transmembrane protein 256 TMEM256 254863 ENSG00000205544 Tmem256 (MGI:1916436) -chr17 7405491 7419859 Chr.17 17p13.1 606479 NLGN2, KIAA1366 Neuroligin 2 NLGN2 57555 ENSG00000169992 Nlgn2 (MGI:2681835) -chr17 7420323 7421631 17p13.1 17p13.1 615116 SPEM1, C17orf83 Spermatid maturation protein 1 SPEM1 374768 ENSG00000181323 Spem1 (MGI:1921538) -chr17 7435434 7437678 17p13.1 17p13.1 613936 TMEM102, CBAP Transmembrane protein 102 TMEM102 284114 ENSG00000181284 Tmem102 (MGI:1921591) -chr17 7438297 7444936 17q21 17p13.1 601514 FGF11, FHF3 Fibroblast growth factor-11 FGF11 2256 ENSG00000161958 Fgf11 (MGI:109167) -chr17 7445060 7457709 17p12-p11 17p13.1 100710 CHRNB1, ACHRB, SCCMS, CMS2A, CMS2C Cholinergic receptor, nicotinic, beta polypeptide-1, muscle CHRNB1 1140 ENSG00000170175 mutation identified in 1 CMS2C family ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3), Autosomal recessive; Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3), Autosomal dominant Chrnb1 (MGI:87890) -chr17 7459365 7484248 17p13.1 17p13.1 612308 ZBTB4, KIAA1538 Zinc finger and BTB domain-containing 4 ZBTB4 57659 ENSG00000174282 Zbtb4 (MGI:1922830) -chr17 7484365 7514615 17p13.1 17p13.1 180660 POLR2A, RPOL2, NEDHIB Polymerase (RNA) II (DNA directed) polypeptide A, 220kD POLR2A 5430 ENSG00000181222 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 (3), Autosomal dominant Polr2a (MGI:98086) -chr17 7549057 7557880 17p13.3 17p13.1 602695 TNFSF12, TWEAK, APO3L, DR3LG Tumor necrosis factor ligand superfamily, member 12 TNFSF12 8742 ENSG00000239697 Tnfsf12 (MGI:1196259) -chr17 7558281 7561600 17p13.1 17p13.1 604472 TNFSF13, APRIL, TALL2 Tumor necrosis factor ligand superfamily, member 13 TNFSF13 8741 ENSG00000161955 Tnfsf13 (MGI:1916833) -chr17 7561918 7571968 17p13.1 17p13.1 612844 SENP3 Sentrin-specific protease family, member 3 SENP3 26168 ENSG00000161956 Senp3 (MGI:2158736) -chr17 7572824 7579005 17p13 17p13.1 602641 EIF4A1, DDX2A Eukaryotic translation initiation factor 4A, isoform 1 EIF4A1 1973 ENSG00000161960 Eif4a1 (MGI:95303) -chr17 7579637 7582110 17p13 17p13.1 153634 CD68 Macrophage antigen CD68 (macrosialin) CD68 968 ENSG00000129226 Cd68 (MGI:88342) -chr17 7583646 7588211 17p13.1-p12 17p13.1 604041 MPDU1, SL15, CDGIF Mannose-P-dolichol utilization defect 1 MPDU1 9526 ENSG00000129255 Congenital disorder of glycosylation, type If, 609180 (3), Autosomal recessive Mpdu1 (MGI:1346040) -chr17 7588177 7590093 17p13 17p13.1 601297 SOX15, SOX20 SRY (sex-determining region Y)-box 15 SOX15 6665 ENSG00000129194 Sox15 (MGI:98363) -chr17 7591229 7614896 17p13.1 17p13.1 605339 FXR2 Fragile X mental retardation, autosomal homolog-2 FXR2 9513 ENSG00000129245 Fxr2 (MGI:1346074) -chr17 7614063 7633371 17p13-p12 17p13.1 182205 SHBG, ABP Sex hormone-binding globulin (androgen binding protein) SHBG 6462 ENSG00000129214 Shbg (MGI:98295) -chr17 7626233 7627877 17p13.1 17p13.1 611463 SAT2, SSAT2 Spermidine/spermine N(1)-acetyltransferase 2 SAT2 112483 ENSG00000141504 Sat2 (MGI:1916465) -chr17 7646626 7657769 17p 17p13.1 182331 ATP1B2, AMOG ATPase, Na+K+ transporting, beta-2 polypeptide ATP1B2 482 ENSG00000129244 Atp1b2 (MGI:88109) -chr17 7668420 7687489 17p13.1 17p13.1 191170 TP53, P53, LFS1 , BCC7, BMFS5 Tumor protein p53 TP53 7157 ENSG00000141510 {Basal cell carcinoma 7}, 614740 (3), Autosomal dominant; {Adrenocortical carcinoma, pediatric}, 202300 (3), Autosomal dominant; Hepatocellular carcinoma, somatic, 114550 (3); Breast cancer, somatic, 114480 (3); Li-Fraumeni syndrome, 151623 (3), Autosomal dominant; Pancreatic cancer, somatic, 260350 (3); Nasopharyngeal carcinoma, somatic, 607107 (3); {Osteosarcoma}, 259500 (3), Somatic mutation; {Choroid plexus papilloma}, 260500 (3), Autosomal dominant; {Colorectal cancer}, 114500 (3), Somatic mutation, Autosomal dominant; {Glioma susceptibility 1}, 137800 (3), Somatic mutation, Autosomal dominant; Bone marrow failure syndrome 5, 618165 (3), Autosomal dominant Trp53 (MGI:98834) -chr17 7686070 7703501 17p13 17p13.1 612661 WRAP53, TCAB1, WDR79, DKCB3 WD repeat-containing protein antisense to TP53 WRAP53 55135 ENSG00000141499 Dyskeratosis congenita, autosomal recessive 3, 613988 (3), Autosomal recessive Wrap53 (MGI:2384933) -chr17 7705201 7711371 17p13.1-p11.2 17p13.1 602297 EFNB3, EPLG8, LERK8, EFL6 Ephrin B3 EFNB3 1949 ENSG00000108947 Efnb3 (MGI:109196) -chr17 7717743 7833741 17p13 17p13.1 603333 DNAH2, DNAHC2, SPGF45 Dynein, axonemal, heavy chain-2 DNAH2 146754 ENSG00000183914 Spermatogenic failure 45, 619094 (3), Autosomal recessive Dnah2 (MGI:107731) -chr17 7834209 7854795 17p13.1 17p13.1 611577 KDM6B, JMJD3, KIAA0346, NEDCFSA Lysine demethylase 6B KDM6B 23135 ENSG00000132510 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, 618505 (3), Autosomal dominant Kdm6b (MGI:2448492) -chr17 7854885 7856098 17p13.1 17p13.1 617813 TMEM88 Transmembrane protein 88 TMEM88 92162 ENSG00000167874 Tmem88 (MGI:1914270) -chr17 7856684 7885419 17p13.1 17p13.1 617990 NAA38, LSMD1, MAK31 N-alpha-acetyltransferase 38, NatC auxiliary subunit NAA38 84316 ENSG00000183011 Naa38 (MGI:1925554) -chr17 7884763 7912754 17p13 17p13.1 602120 CHD3, SNIBCPS Chromodomain helicase DNA binding protein-3 CHD3 1107 ENSG00000170004 Snijders Blok-Campeau syndrome, 618205 (3), Autosomal dominant Chd3 (MGI:1344395) -chr17 7921858 7930345 17p13.1 17p13.1 604111 KCNAB3, KCNA3B Potassium voltage-gated channel, shaker-related subfamily, beta member 3 KCNAB3 9196 ENSG00000170049 Kcnab3 (MGI:1336208) -chr17 7930344 7931998 17p13 17p13.1 610969 TRAPPC1, MUM2, BET5 Trafficking protein particle complex, subunit 1 TRAPPC1 58485 ENSG00000170043 Trappc1 (MGI:1098727) -chr17 7932053 7949919 17p13.1 17p13.1 611425 CNTROB, LIP8 Centrobin, centriole duplication and spindle assembly protein CNTROB 116840 ENSG00000170037 Cntrob (MGI:2443290) -chr17 8002614 8020341 17p13.1 17p13.1 600179 GUCY2D, GUC2D, LCA1, CORD6, RCD2, CACD1, CSNB1I Guanylate cyclase 2D, membrane, retina-specific GUCY2D 3000 ENSG00000132518 mutation identified in 1 CACD1 family Cone-rod dystrophy 6, 601777 (3), Autosomal dominant, Autosomal recessive; ?Choroidal dystrophy, central areolar 1, 215500 (3), Autosomal dominant; Leber congenital amaurosis 1, 204000 (3), Autosomal recessive; Night blindness, congenital stationary, type 1I, 618555 (3), Autosomal recessive Gucy2e (MGI:105123) -chr17 8039058 8049133 17p13.1 17p13.1 603697 ALOX15B Arachidonate 15-lipoxygenase, second type ALOX15B 247 ENSG00000179593 Alox8 (MGI:1098228) -chr17 8072635 8087715 17p13.1 17p13.1 603741 ALOX12B, ARCI2 Archidonate 12-lipoxygenase, R type ALOX12B 242 ENSG00000179477 Ichthyosis, congenital, autosomal recessive 2, 242100 (3), Autosomal recessive Alox12b (MGI:1274782) -chr17 8095899 8118915 17p13.1 17p13.1 607206 ALOXE3, ARCI3 Arachidonate lipoxygenase 3 ALOXE3 59344 ENSG00000179148 Ichthyosis, congenital, autosomal recessive 3, 606545 (3), Autosomal recessive Aloxe3 (MGI:1345140) -chr17 8119154 8119226 17p13.1 17p13.1 189918 TRNAK1, TRK1, TRK-TTT3-5 Transfer RNA lysine (TTT) 3-5 TRK-TTT3-5 7206 -chr17 8119751 8119822 17p13.1 17p13.1 189919 TRQ-CTG1-5, TRNAQ1, TRQ1 tRNA glutamine (anticodon CTG) 1-5 TRQ-CTG1-5 7228 -chr17 8120313 8120394 17p13.1 17p13.1 189920 TRNAL2, TRL2 tRNA leucine-2 TRL-TAG1-1 7208 -chr17 8120589 8126031 17p13.2 17p13.1 608059 HES7, SCDO4 Hes family bHLH transcription factor 7 HES7 84667 ENSG00000179111 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3), Autosomal recessive Hes7 (MGI:2135679) -chr17 8120924 8121011 17p13.1 17p13.1 610406 TRR-TCT2-1, TRNAR1, TRR1 tRNA arginine (anticodon TCT) 2-1 TRR-TCT2-1 7230 -chr17 8125745 8125815 17p13.1 17p13.1 610407 TRG-GCC2-6, TRNAG2, TRG2 tRNA glycine (anticodon GCC) 2-6 TRG-GCC2-6 7196 at least 8 copies in this region -chr17 8140469 8156359 17p12 17p13.1 602260 PER1, PER, RIGUI Period circadian regulator 1 PER1 5187 ENSG00000179094 Per1 (MGI:1098283) -chr17 8159146 8162947 17p12 17p13.1 185881 VAMP2, SYB2, NEDHAHM Vesicle-associated membrane protein-2 (synaptobrevin-2) VAMP2 6844 ENSG00000220205 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, 618760 (3), Autosomal dominant Vamp2 (MGI:1313277) -chr17 8172456 8176379 17p13.1 17p13.1 616183 TMEM107, MKS13, JBTS29 Transmembrane protein 107 TMEM107 84314 ENSG00000179029 mutation identified in 1 JBTS29 Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive; Meckel syndrome 13, 617562 (3), Autosomal recessive; ?Joubert syndrome 29, 617562 (3), Autosomal recessive Tmem107 (MGI:1914160) -chr17 8173451 8173587 17p13.1 17p13.1 616663 SNORD118, LCC Small nucleolar RNA, C/D box, 118 SNORD118 727676 ENSG00000200463 Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive -chr17 8188344 8190179 17p13.1 17p13.1 616599 BORCS6, C17orf59, LYSPERSIN BLOC1-related complex, subunit 6 BORCS6 54785 ENSG00000196544 Borcs6 (MGI:1919173) -chr17 8204730 8210766 17p13.1 17p13.1 604970 STK12, ARK2, AIK2, AIM1 Serine/threonine protein kinase 12 AURKB 9212 ENSG00000178999 Aurkb (MGI:107168) -chr17 8224814 8248078 17p13.1 17p13.1 613129 CTC1, CRMCC, C17orf68, AAF132 Conserved telomere maintenance component 1 CTC1 80169 ENSG00000178971 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3), Autosomal recessive Ctc1 (MGI:1916214) -chr17 8247595 8270490 Chr.17 17p13.1 602133 PFAS, FGARAT phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) PFAS 5198 ENSG00000178921 Pfas (MGI:2684864) -chr17 8287762 8295688 17p13.1 17p13.1 610818 SLC25A35 Solute carrier family 25, member 35 SLC25A35 399512 ENSG00000125434 Slc25a35 (MGI:1919248) -chr17 8288669 8290086 17p13.1 17p13.1 607954 RANGRF, MOG1 RAN guanine nucleotide release factor RANGRF 29098 ENSG00000108961 Rangrf (MGI:1889073) -chr17 8310240 8322515 17p13.1 17p13.1 608504 ARGEF15, KIAA0915 Rho guanine nucleotide exchange factor 15 ARHGEF15 22899 ENSG00000198844 Arhgef15 (MGI:3045246) -chr17 8339839 8346047 17p13.1 17p13.1 610097 ODF4, OPPO1 Outer dense fiber of sperm tails 4 ODF4 146852 ENSG00000184650 Odf4 (MGI:2182079) -chr17 8377515 8383192 17p 17p13.1 603704 RPL26, DBA11 Ribosomal protein L26 RPL26 6154 ENSG00000161970 mutation identified in 1 family ?Diamond-Blackfan anemia 11, 614900 (3), Autosomal dominant Rpl26 (MGI:106022) -chr17 8435883 8472743 Chr.17 17p13.1 607538 NUDEL Nude-like protein (endooligopeptidase A) NDEL1 81565 ENSG00000166579 Ndel1 (MGI:1932915) -chr17 8474211 8631368 17p13 17p13.1 160776 MYH10 Myosin, heavy polypeptide-10, non-muscle MYH10 4628 ENSG00000133026 Myh10 (MGI:1930780) -chr17 8747531 8758545 17p13.1 17p13.1 617628 SPDYE4 SPEEDY/RINGO cell cycle regulator family, member E4 SPDYE4 388333 ENSG00000183318 Spdye4b,Spdye4a (MGI:3612701,MGI:1921923) -chr17 8802721 8870002 17p13.1 17p13.1 611462 PIK3R6, C17orf38 Phosphatidylinositol 3-kinase, regulatory subunit 6 PIK3R6 146850 ENSG00000276231 Pik3r6 (MGI:2144613) -chr17 8878915 8965706 17p13.1 17p13.1 611317 PIK3R5, p101 Phosphatidylinositol 3-kinase, regulatory subunit 5 PIK3R5 23533 ENSG00000141506 Ataxia-oculomotor apraxia 3, 615217 (3), Autosomal recessive Pik3r5 (MGI:2443588) -chr17 9021509 9243999 17p13.1 17p13.1 601614 NTN1, NTN1L, MRMV4 Netrin 1, mouse, homolog of NTN1 9423 ENSG00000065320 Mirror movements 4, 618264 (3), Autosomal dominant Ntn1 (MGI:105088) -chr17 9250470 9575893 17p12 17p13.1 604203 STX8 Syntaxin 8 STX8 9482 ENSG00000170310 Stx8 (MGI:1890156) -chr17 9576641 9643446 17p13.1 17p13.1 609804 WDR16, WDRPUH WD repeat-containing protein 16 CFAP52 146845 ENSG00000166596 Cfap52 (MGI:1919110) -chr17 9771437 9791591 17p13.1 17p13.1 616161 DHRS7C, SDR32C2 Short-chain dehydrogenase reductase family, member 7C DHRS7C 201140 ENSG00000184544 Dhrs7c (MGI:1915710) -chr17 9825507 9894162 17p13.3 17p13.1 603659 GLP2R Glucagon-like peptide 2 receptor GLP2R 9340 ENSG00000065325 Glp2r (MGI:2136733) -chr17 9896319 9905270 17p13.1 17p13.1 179618 RCVRN, RCV1 Recoverin RCVRN 5957 ENSG00000109047 Rcvrn (MGI:97883) -chr17 9910605 10198605 17p 17p13.1 603127 GAS7 Growth arrest-specific 7 GAS7 8522 ENSG00000007237 Gas7 (MGI:1202388) -chr17 10300864 10373005 17p13.1-p12 17p13.1 603487 MYH13 Myosin, heavy polypeptide 13, skeletal muscle MYH13 8735 ENSG00000006788 Myh13 (MGI:1339967) -chr17 10390321 10421949 17p13.1 17p13.1 160741 MYH8, DA7 Myosin, heavy polypeptide-8, skeletal muscle, perinatal MYH8 4626 ENSG00000133020 Carney complex variant, 608837 (3); Trismus-pseudocamptodactyly syndrome, 158300 (3), Autosomal dominant Myh8 (MGI:1339712) -chr17 10443057 10469558 17p13.1 17p13.1 160742 MYH4 Myosin, heavy polypeptide-4, skeletal muscle MYH4 4622 ENSG00000264424 Myh4 (MGI:1339713) -chr17 10492306 10518718 17p13.1 17p13.1 160730 MYH1 Myosin, heavy polypeptide-1, skeletal muscle, adult MYH1 4619 ENSG00000109061 cluster = 6 genes in 500kb Myh1 (MGI:1339711) -chr17 10521147 10549657 17p13.1 17p13.1 160740 MYH2, MYPOP Myosin, heavy polypeptide-2, skeletal muscle, adult MYH2 4620 ENSG00000125414 Proximal myopathy and ophthalmoplegia, 605637 (3), Autosomal dominant, Autosomal recessive Myh2 (MGI:1339710) -chr17 10628526 10678346 17p13.1 17p13.1 160720 MYH3, DA2A, DA2B3, DA8, CPSFS1A, CPSFS1B Myosin, heavy polypeptide-3, skeletal muscle, embryonic MYH3 4621 ENSG00000109063 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, 178110 (3), Autosomal dominant; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, 618469 (3), Autosomal recessive; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 (3), Autosomal dominant; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700 (3), Autosomal dominant Myh3 (MGI:1339709) -chr17 10672473 10697532 17p13-p12 17p13.1 603644 SCO1, SCOD1, MC4DN4 SCO cytochrome c oxidase assembly protein 1 SCO1 6341 ENSG00000133028 Mitochondrial complex IV deficiency, nuclear type 4, 619048 (3), Autosomal recessive Sco1 (MGI:106362) -chr17 10800000 16100000 17p12 605572 AOMS2 Abdominal obesity-metabolic syndrome QTL2 65077 second QTL on 3q27 Abdominal obesity-metabolic syndrome, 605572 (2), Autosomal dominant -chr17 10800000 33500000 17p12-q11.2 613392 DFNB85 Deafness, autosomal recessive 85 100359399 between rs230884 and rs12603885 Deafness, autosomal recessive 85, 613392 (2), Autosomal recessive -chr17 10800000 42800000 17p12-q21.2 614928 ECTD6 Ectodermal dysplasia 6, hair/nail type 101101770 between D17S839 and D17S1299 Ectodermal dysplasia 6, hair/nail type, 614928 (2), Autosomal recessive -chr17 10800000 22700000 17p12-p11.2 616652 YUHAL Yuan-Harel-Lupski syndrome contiguous gene duplication syndrome Yuan-Harel-Lupski syndrome, 616652 (4), Autosomal dominant -chr17 10822469 10838086 17p13.1 17p12 612068 PIRT Phosphoinositide-interacting regulator of transient receptor potential channels PIRT 644139 ENSG00000233670 Pirt (MGI:2443635) -chr17 11241212 11564062 17p12 17p12 617327 SHISA6 Shisa family, member 6 SHISA6 388336 ENSG00000188803 Shisa6 (MGI:2685725) -chr17 11598469 11970167 17p12 17p12 603330 DNAH9, DNAH17L, DNEL1, CILD40 Dynein, axonemal, heavy chain 9 DNAH9 1770 ENSG00000007174 Ciliary dyskinesia, primary, 40, 618300 (3), Autosomal recessive Dnah9 (MGI:1289279) -chr17 11957432 12021521 17p13-p12 17p12 194524 ZNF18, KOX11 Zinc finger protein-18 (KOX11) ZNF18 7566 ENSG00000154957 Zkscan6 (MGI:1289293) -chr17 12020821 12143827 17p11.2 17p12 601335 SERK1, PRKMK4, MAPKK4, JNKK1 SAPK/ERK kinase-1 MAP2K4 6416 ENSG00000065559 Map2k4 (MGI:1346869) -chr17 12665889 12768948 17p11.2 17p12 606127 MYOCD, MGBL Myocardin MYOCD 93649 ENSG00000141052 Megabladder, congenital, 618719 (3), Autosomal dominant Myocd (MGI:2137495) -chr17 12789497 12991643 17p12 17p12 617716 ARHGAP44, RICH2, KIAA0672 RHO GTPase-activating protein 44 ARHGAP44 9912 ENSG00000006740 Arhgap44 (MGI:2144423) -chr17 12991611 13018026 17p11 17p12 605367 ELAC2, HPC2, COXPD17 elaC ribonuclease Z 2 ELAC2 60528 ENSG00000006744 at ~365cR {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3); Combined oxidative phosphorylation deficiency 17, 615440 (3), Autosomal recessive Elac2 (MGI:1890496) -chr17 13494031 13601928 17p12-p11.2 17p12 604057 HS3ST3A1, 30ST3A1 Heparan sulfate-glucosamine 3-sulfotransferase 3A1 HS3ST3A1 9955 ENSG00000153976 Hs3st3a1 (MGI:1333861) -chr17 14069503 14208676 17p12-p11.2 17p12 602125 COX10, MC4DN3 Cytochrome c oxidase, subunit X COX10 1352 ENSG00000006695 Mitochondrial complex IV deficiency, nuclear type 3, 619046 (3) Cox10 (MGI:1917633) -chr17 14301080 14349405 17p12-p11.2 17p12 604058 HS3ST3B1, 30ST3B1 Heparan sulfate-glucosamine 3-sulfotransferase 3B1 HS3ST3B1 9953 ENSG00000125430 Hs3st3b1 (MGI:1333853) -chr17 15229778 15265325 17p11.2 17p12 601097 PMP22, CMT1A, CMT1E, DSS, CIDP Peripheral myelin protein-22 PMP22 5376 ENSG00000109099 mutation identified in 1 CIDP family Charcot-Marie-Tooth disease, type 1A, 118220 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1E, 118300 (3), Autosomal dominant; ?Neuropathy, inflammatory demyelinating, 139393 (3), ?Autosomal dominant; Neuropathy, recurrent, with pressure palsies, 162500 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal dominant, Autosomal recessive Pmp22 (MGI:97631) -chr17 15303810 15343681 17p12 17p12 612683 TEKT3 Tektin 3 TEKT3 64518 ENSG00000125409 Tekt3 (MGI:1918312) -chr17 15565481 15619703 17p12 17p12 604596 CDRT1, C17orf1A CMT1A duplicated region transcript 1 CDRT1 374286 ENSG00000241322 Fbxw10 (MGI:3052463) -chr17 15627965 15684310 17p11.2 17p12 609505 TRIM16, EBBP Tripartite motif-containing protein 16 TRIM16 10626 ENSG00000221926 Trim16 (MGI:2137356) -chr17 15675475 15675642 17p13-p12 17p12 194535 ZNF29P Zinc finger protein 29, pseudogene ZNF29P 7577 ENSG00000108452 proximal to TP53 -chr17 15927781 15975745 17p12-p11.2 17p12 600446 ADORA2B Adenosine A2b receptor ADORA2B 136 ENSG00000170425 incorrectly put on 10 Adora2b (MGI:99403) -chr17 15976559 15999703 17p12 17p12 614535 ZSWIM7, SWS1 Zinc finger SWIM domain-containing protein 7 ZSWIM7 125150 ENSG00000214941 Zswim7 (MGI:1916997) -chr17 15999770 16045427 17p12 17p12 613814 TTC19, MC3DN2 Tetratricopeptide repeat domain 19 TTC19 54902 ENSG00000011295 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3), Autosomal recessive Ttc19 (MGI:1920045) -chr17 16029156 16216474 11p11.2 17p-p 600849 NCOR1 Nuclear receptor corepressor 1 NCOR1 9611 ENSG00000141027 Ncor1 (MGI:1349717) -chr17 16100000 22700000 17p11.2 607354 IS2, AIS2 Scoliosis, idiopathic 2 282552 between D17S947 and D17S798 Scoliosis, idiopathic 2, 607354 (2) -chr17 16100000 22700000 17p11.2 610883 PTLS Potocki-Lupski syndrome contiguous gene syndrome Potocki-Lupski syndrome, 610883 (4), Isolated cases -chr17 16217208 16351799 17p12-p11.2 17p11.2 605947 PIGL, CHIME Phosphatidylinositol glycan, class L PIGL 9487 ENSG00000108474 CHIME syndrome, 280000 (3), Autosomal recessive Pigl (MGI:2681271) -chr17 16342536 16353468 17p11.2 17p11.2 608139 CENPV, P30 Centromere protein V CENPV 201161 ENSG00000166582 Cenpv (MGI:1920389) -chr17 16380778 16382744 17p12-p11.1 17p11.2 191339 UBB Ubiquitin B UBB 7314 ENSG00000170315 Ubb (MGI:98888) -chr17 16415542 16437002 Chr.17 17p11.2 606676 TRPV2, VRL1 Transient receptor potential cation channel, subfamily V, member 2 TRPV2 51393 ENSG00000187688 Trpv2 (MGI:1341836) -chr17 16666570 16787420 17p11.2 17p11.2 619413 CCDC144A, KIAA0565 Coiled-coil domain-containing protein 144A CCDC144A 9720 ENSG00000170160 -chr17 16939080 16972117 17p11.2 17p11.2 604907 TNFRSF13B, TACI, CVID2 Tumor necrosis factor receptor superfamily, member 13B TNFRSF13B 23495 ENSG00000240505 Immunodeficiency, common variable, 2, 240500 (3), Autosomal dominant, Autosomal recessive; Immunoglobulin A deficiency 2, 609529 (3) Tnfrsf13b (MGI:1889411) -chr17 17042454 17192647 17p11.2 17p11.2 612935 MPRIP, MRIP, KIAA0864, RIP3, P116RIP Myosin phosphatase Rho-interacting protein MPRIP 23164 ENSG00000133030 Mprip (MGI:1349438) -chr17 17200989 17206904 17p11.2 17p11.2 614960 PLD6, ZUC Phospholipase D family, member 6 PLD6 201164 ENSG00000179598 Pld6 (MGI:2687283) -chr17 17206945 17237187 17p11.2 17p11.2 607273 FLCN, BHD Folliculin FLCN 201163 ENSG00000154803 Birt-Hogg-Dube syndrome, 135150 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Pneumothorax, primary spontaneous, 173600 (3), Autosomal dominant; Renal carcinoma, chromophobe, somatic, 144700 (3) Flcn (MGI:2442184) -chr17 17246615 17281302 17p11.2 17p11.2 604665 COPS3, SGN3 COP9 signalosome, subunit 3 COPS3 8533 ENSG00000141030 Cops3 (MGI:1349409) -chr17 17303372 17347662 17p11.2 17p11.2 605292 NT5M, DNT2 Deoxyribonucleotidase, mitochondrial (5' nucleotidase, mitochondrial) NT5M 56953 ENSG00000205309 Nt5m (MGI:1917127) -chr17 17476999 17493220 17p11.2 17p11.2 609878 MED9, MED25, FLJ10193 Mediator of RNA polymerase II transcription, subunit 9, S. cerevisiae, homolog of MED9 55090 ENSG00000141026 Med9 (MGI:2183151) -chr17 17494436 17496394 17p11.2 17p11.2 605550 RASD1, DEXRAS1 Ras protein, dexamethasone-induced, 1 RASD1 51655 ENSG00000108551 Rasd1 (MGI:1270848) -chr17 17505560 17591986 17p11.2 17p11.2 602391 PEMT, PEMPT Phosphatidylethanolamine N-methyltransferase PEMT 10400 ENSG00000133027 Pemt (MGI:104535) -chr17 17681375 17811452 17p11.2 17p11.2 607642 RAI1, SMCR, SMS Retinoic acid-induced gene 1 RAI1 10743 ENSG00000108557 Smith-Magenis syndrome, 182290 (3), Autosomal dominant, Isolated cases Rai1 (MGI:103291) -chr17 17811333 17837016 17p11.2 17p11.2 184756 SREBF1, IFAP2, HMD Sterol regulatory element binding transcription factor 1 SREBF1 6720 ENSG00000072310 Ichthyosis, follicular, with atrichia and photophobia syndrome 2, 619016 (3), Autosomal dominant; Mucoepithelial dysplasia, hereditary, 158310 (3), Autosomal dominant Srebf1 (MGI:107606) -chr17 17813835 17813930 17p11.2 17p11.2 613486 MIR33B, MIRN33B Micro RNA 33B MIR33B 693120 ENSG00000207839 -chr17 17843507 17972405 17p11.2 17p11.2 615519 TOM1L2 Target of MYB1-like 2 membrane trafficking protein TOM1L2 146691 ENSG00000175662 Tom1l2 (MGI:2443306) -chr17 17972765 18016888 17p11.2 17p11.2 618758 DRC3, LRRC48, CFAP134 Dynein regulatory complex subunit 3 DRC3 83450 ENSG00000171962 Drc3 (MGI:1921915) -chr17 18015058 18039167 17p11.2 17p11.2 608918 ATPAF2, ATP12, MC5DN1 ATP synthase, mitochondrial F1 complex, assembly factor 2 ATPAF2 91647 ENSG00000171953 mutation identified in 1 MC5DN1 patient ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3), Autosomal recessive Atpaf2 (MGI:2180561) -chr17 18039407 18068404 17p11.2 17p11.2 617699 GID4, VID2, C17orf39 GID complex, subunit 4 GID4 79018 ENSG00000141034 Gid4 (MGI:1914021) -chr17 18087884 18107969 17p11.2 17p11.2 602986 DRG2 Developmentally regulated GTP-binding protein 2 DRG2 1819 ENSG00000108591 Drg2 (MGI:1342307) -chr17 18108755 18180243 17p11.2 17p11.2 602666 MYO15A, DFNB3 Myosin XVA MYO15A 51168 ENSG00000091536 Deafness, autosomal recessive 3, 600316 (3), Autosomal recessive Myo15 (MGI:1261811) -chr17 18183827 18209953 17p11.2 17p11.2 613303 ALKBH5, ABH5 AlkB homolog 5, RNA demethylase ALKBH5 54890 ENSG00000091542 Alkbh5 (MGI:2144489) -chr17 18225592 18244874 17p12-p11.2 17p11.2 600966 LLGL1, DLG4 LLGL scribble cell polarity complex component 1 LLGL1 3996 ENSG00000131899 Llgl1 (MGI:102682) -chr17 18244814 18259021 17p11.2 17p11.2 600362 FLII FLII actin remodeling protein FLII 2314 ENSG00000177731 Flii (MGI:1342286) -chr17 18260661 18266551 17p11.2 17p11.2 615498 MEIF2, SMCR7, MID49, COXPD49 Mitochondrial elongation factor 2 MIEF2 125170 ENSG00000177427 mutation identified in 1 COXPD49 patient ?Combined oxidative phosphorylation deficiency 49, 619024 (3), Autosomal recessive Mief2 (MGI:2144199) -chr17 18269957 18314995 17p12-p11.2 17p11.2 601243 TOP3A, MGRISCE2, PEOB5 Topoisomerase (DNA) III, alpha TOP3A 7156 ENSG00000177302 mutation identified in 1 PEOB5 patient ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3), Autosomal recessive; Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3), Autosomal recessive Top3a (MGI:1197527) -chr17 18315292 18328055 17p11.2 17p11.2 617074 SMCR8 Smith-Magenis syndrome chromosome region, candidate gene 8 SMCR8 140775 ENSG00000176994 Smcr8 (MGI:2444720) -chr17 18327872 18363559 17p11.2 17p11.2 182144 SHMT1 Serine hydroxymethyltransferase (soluble) SHMT1 6470 ENSG00000176974 ?role in Smith-Magenis syndrome Shmt1 (MGI:98299) -chr17 18497089 18503284 17p13.1-q25 17p11.2 600719 NOS2P2, NOS2B Nitric oxide synthase 2 pseudogene 2 NOS2P2 201288 -chr17 18744023 18779348 17p12 17p11.2 611679 FBXW10 F-box and WD40 domain protein 10 FBXW10 10517 ENSG00000171931 Fbxw10 (MGI:3052463) -chr17 18856298 18931286 17p12-p11.2 17p11.2 603762 PRPSAP2, PAP41 Phosphoribosylpyrophosphate synthetase-associated protein 2 PRPSAP2 5636 ENSG00000141127 Prpsap2 (MGI:2384838) -chr17 18950675 19022564 17p11.2 17p11.2 618636 SLC5A10, SGLT5 Solute carrier family 5 (sodium/glucose cotransporter), member 10 SLC5A10 125206 ENSG00000154025 Slc5a10 (MGI:1926089) -chr17 18968788 19006142 17p11.2 17p11.2 615886 FAM83G, PAWS1 Family with sequence similarity 83, member G FAM83G 644815 ENSG00000188522 Fam83g (MGI:1916890) -chr17 19020655 19046956 17p11.2 17p11.2 604330 GRAP, DFNB114 GRB2-related adaptor protein GRAP 10750 ENSG00000154016 Deafness, autosomal recessive 114, 618456 (3), Autosomal recessive Grap (MGI:1918770) -chr17 19188015 19188231 17p11.2 17p11.2 180710 RNU3 RNA, U3 small nuclear SNORD3A 780851 deleted in Smith-Magenis syndrome -chr17 19334694 19377912 17p11.2 17p11.2 614144 B9D1, MKSR1, MKS9, JBTS27 B9 domain-containing protein 1 B9D1 27077 ENSG00000108641 mutation identified in 1 MKS9 patient ?Meckel syndrome 9, 614209 (3), Autosomal recessive; Joubert syndrome 27, 617120 (3), Autosomal recessive B9d1 (MGI:1351471) -chr17 19237365 19336714 Chr.17 17p11.2 607263 EPN2, KIAA1065 Epsin 2 EPN2 22905 ENSG00000072134 Epn2 (MGI:1333766) -chr17 19377720 19383543 17p11.2 17p11.2 602521 MAPK7, PRKM7, ERK5 Mitogen-activated protein kinase 7 (extracellular signal-regulated kinase 5) MAPK7 5598 ENSG00000166484 Mapk7 (MGI:1346347) -chr17 19383444 19387189 17p11.2 17p11.2 600596 MFAP4 Microfibrillar-associated protein-4 MFAP4 4239 ENSG00000166482 Mfap4 (MGI:1342276) -chr17 19406978 19417275 17p11.2 17p11.2 601237 RNF112, ZNF179, BFP RING finger protein 112 RNF112 7732 ENSG00000128482 Rnf112 (MGI:106611) -chr17 19533853 19579033 17p11.2 17p11.2 609832 SLC47A1, MATE1, FLJ10847 Solute carrier family 47, member 1 SLC47A1 55244 ENSG00000142494 Slc47a1 (MGI:1914723) -chr17 19648135 19677595 17p11.2 17p11.2 609523 ALDH3A2, ALDH10, SLS, FALDH Aldehyde dehydrogenase 3 family, member A2 (fatty aldehyde dehydrogenase) ALDH3A2 224 ENSG00000072210 Sjogren-Larsson syndrome, 270200 (3), Autosomal recessive Aldh3a2 (MGI:1353452) -chr17 19678312 19719597 17p11.2 17p11.2 609833 SLC47A2, MATE2, FLJ31196, MATE2K Solute carrier family 47, member 2 SLC47A2 146802 ENSG00000180638 -chr17 19737983 19748389 17p11.2 17p11.2 100660 ALDH3A1, ALDH3 Aldehyde dehydrogenase 3 family, member A1 ALDH3A1 218 ENSG00000108602 Aldh3a1 (MGI:1353451) -chr17 19770827 19867935 17p11.2 17p11.2 608650 ULK2, KIAA0623, UNC51.2 UNC51-like kinase 2 ULK2 9706 ENSG00000083290 Ulk2 (MGI:1352758) -chr17 19904301 19977827 17p11.1 17p11.2 604694 AKAP10 A-kinase anchor protein 10 AKAP10 11216 ENSG00000108599 {Cardiac conduction defect, susceptibility to}, 115080 (3), Autosomal dominant Akap10 (MGI:1890218) -chr17 20009300 20319025 17p11.2 17p11.2 608793 SPECC1, HCMOGT1, NSP Sperm antigen with calponin homology and coiled-coil domains 1 SPECC1 92521 ENSG00000128487 Specc1 (MGI:2442356) -chr17 20999595 21043408 17p11.2 17p11.2 612116 USP22, KIAA1064 Ubiquitin-specific protease 22 USP22 23326 ENSG00000124422 Usp22 (MGI:2144157) -chr17 21123367 21191444 17p11.2 17p11.2 616160 DHRS7B, SDR32C1 Short-chain dehydrogenase reductase family, member 7B DHRS7B 25979 ENSG00000109016 Dhrs7b (MGI:2384931) -chr17 21197953 21214160 17p11.2 17p11.2 618817 TMEM11 Transmembrane protein 11 TMEM11 8834 ENSG00000178307 Tmem11 (MGI:2144726) -chr17 21284678 21315239 17q11.2 17p11.2 602315 PRKMK3, MAPKK3, MEK3 Protein kinase, mitogen-activated, kinase-3 MAP2K3 5606 ENSG00000034152 Map2k3 (MGI:1346868) -chr17 21376356 21419869 17p11.2-p11.1 17p11.2 602323 KCNJ12, KCNJN1 Potassium inwardly-rectifying channel, subfamily J, member 12 KCNJ12 3768 ENSG00000184185 Kcnj12 (MGI:108495) -chr17 21692522 21705699 17p11.2 17p11.2 613236 KCNJ18, KIR2.6, TTPP2 Potassium channel, inwardly rectifying, subfamily J, member 18 KCNJ18 100134444 ENSG00000260458 {Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3), Autosomal dominant Kcnj12 (MGI:108495) -chr17 22406018 22413740 17p11.2 17p11.2 605160 PRG4, FLJ36000 p53-responsive gene 4 284124 ENSG00000276399 -chr17 22523414 22524662 17p11.2 17p11.2 616985 MTRNR2L1, HN1 MTRNR2-like 1 MTRNR2L1 100462977 ENSG00000256618 -chr17 22700000 25100000 17p11 608904 ADHD2 Attention deficit-hyperactivity disorder, susceptibility to, 2 450088 {Attention deficit-hyperactivity disorder}, 143465 (2), Autosomal dominant -chr17 25100000 83257441 17q 603918 HYT1 Hypertension, essential, susceptibility to, 1 117191 ~18cM distal to ACE {Hypertension, essential, susceptibility to, 1}, 145500 (2), Multifactorial -chr17 27294079 27315925 17q11.1 17q11.1 610091 WSB1, SWIP1 WD repeat- and SOCS box-containing protein 1 WSB1 26118 ENSG00000109046 Wsb1 (MGI:1926139) -chr17 27400000 33500000 17q11 609378 AUTS6 Autism, susceptibility to, 6 554314 max lod at D17S1800 {Autism susceptibility 6}, 609378 (2) -chr17 27400000 33500000 17q11.2 601395 CCL3L1, SCYA3L1, LD78 Chemokine, C-C motif, ligand 3-like 1 CCL3L1 6349 varies in copy number 1-10 {HIV/AIDS, susceptibility to}, 609423 (3) Ccl3 (MGI:98260) -chr17 27400000 33500000 17q11.2 613675 DEL17q11.2, C17DELq11.2 Chromosome 17q11.2 deletion syndrome, 1.4Mb (NF1 microdeletion syndrome) Chromosome 17q11.2 deletion syndrome, 1.4Mb, 613675 (4), Autosomal dominant -chr17 27400000 33500000 17q11.2 618874 DUP17q11.2, C17DUPq11.2 Chromosome 17q11.2 duplication syndrome, 1.4-Mb Chromosome 17q11.2 duplication syndrome, 1.4-Mb, 618874 (4), Autosomal dominant, Isolated cases -chr17 27400000 33500000 17q11 606601 ERVE1, HERVE1 Endogenous retroviral sequence E, 1 ERVE-1 85314 -chr17 27400000 72900000 17q11.2-q24 154275 MHS2 Malignant hyperthermia susceptibility 2 4264 ?due to mutation in SCN4A {Malignant hyperthermia susceptibility 2}, 154275 (2), Autosomal dominant -chr17 27400000 33500000 17q11.2 612575 MPVQTL3 Mean platelet volume quantitative trait locus 3 100271869 associated with rs2138852 [Mean platelet volume QTL3], 612575 (2) -chr17 27456440 27626437 17q11.2 17q11.2 601132 KSR, KSR1 Kinase suppressor of RAS KSR1 8844 ENSG00000141068 Ksr1 (MGI:105051) -chr17 27631171 27649559 17q11.2 17q11.2 601879 LGALS9 Lectin, galactoside-binding, soluble, 9 LGALS9 3965 ENSG00000168961 Lgals9 (MGI:109496) -chr17 27756765 27800528 17cen-q11.2 17q11.2 163730 NOS2A, NOS2 Nitric oxide synthase 2A NOS2 4843 ENSG00000007171 ?cluster of 3 NOS2 genes {Malaria, resistance to}, 611162 (3) Nos2 (MGI:97361) -chr17 28042646 28205139 17q11.2 17q11.2 609476 NLK NEMO-like kinase NLK 51701 ENSG00000087095 Nlk (MGI:1201387) -chr17 28226562 28228059 17q11 17q11.2 606637 PYY2 Peptide YY, 2 PYY2 23615 ENSG00000237575 -chr17 28247443 28248288 17q11 17q11.2 606638 PPY2 Pancreatic polypeptide 2 PPY2P 23614 ENSG00000265060 -chr17 28319040 28328684 17q11.2 17q11.2 612912 TMEM97, MAC30 Transmembrane protein 97 TMEM97 27346 ENSG00000109084 Tmem97 (MGI:1916321) -chr17 28328325 28335471 17p11.1 17q11.2 614394 IFT20 Intraflagellar transport 20 IFT20 90410 ENSG00000109083 Ift20 (MGI:1915585) -chr17 28335670 28347008 17q22-q23 17q11.2 191161 TNFAIP1 Tumor necrosis factor, alpha-induced protein-1 (endothelial) TNFAIP1 7126 ENSG00000109079 Tnfaip1 (MGI:104961) -chr17 28346632 28357526 17q11.2 17q11.2 611519 POLDIP2, PDIP38 Polymerase delta-interacting protein 2 POLDIP2 26073 ENSG00000004142 Poldip2 (MGI:1915061) -chr17 28357646 28363682 17q11.2 17q11.2 616815 TMEM199, VMA12, VPH2, C17orf32, CDG2P Transmembrane protein 199 TMEM199 147007 ENSG00000244045 Congenital disorder of glycosylation, type IIp, 616829 (3), Autosomal recessive Tmem199 (MGI:2144113) -chr17 28363505 28365198 17q11.2 17q11.2 610975 SEBOX, OG9 Skin-, embryo-, brain-, and oocyte-specific homeobox SEBOX 645832 ENSG00000274529 Sebox (MGI:108012) -chr17 28367283 28370306 17q11 17q11.2 193190 VTN, VNT Vitronectin (serum spreading factor, somatomedin B, complement S-protein) VTN 7448 ENSG00000109072 Vtn (MGI:98940) -chr17 28371693 28404048 17q11 17q11.2 607732 SARM, KIAA0524 Sterile alpha and heat/armadillo motifs-containing protein SARM1 23098 ENSG00000004139 Sarm1 (MGI:2136419) -chr17 28394641 28406629 17q11.1 17q11.2 611672 SLC46A1, HCP1, PCFT Solute carrier family 46 (folate transporter), member 1 SLC46A1 113235 ENSG00000076351 Folate malabsorption, hereditary, 229050 (3), Autosomal recessive Slc46a1 (MGI:1098733) -chr17 28473356 28497780 17p11.1-q11.1 17q11.2 604148 SLC13A2, NADC1 Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 SLC13A2 9058 ENSG00000007216 Slc13a2 (MGI:1276558) -chr17 28506210 28538899 17q11-q12 17q11.2 600838 FOXN1, WHN, TIDAND, TLIND Forkhead box N1 (winged helix nude) FOXN1 8456 ENSG00000109101 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, 618806 (3); T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3), Autosomal recessive Foxn1 (MGI:102949) -chr17 28546706 28552632 17q11.2 17q11.2 604011 UNC119, HRG4, IMD13 unc-119 lipid binding chaperone UNC119 9094 ENSG00000109103 mutation identified in 1 IMD13 family and CORD family ?Immunodeficiency 13, 615518 (3), Autosomal dominant; ?Cone-rod dystrophy (3) Unc119 (MGI:1328357) -chr17 28553386 28571523 17q11.2 17q11.2 610271 PIGS, GPIBD18, DEE95 Phosphatidylinositol glycan, class S PIGS 94005 ENSG00000087111 Developmental and epileptic encephalopathy 95, 618143 (3), Autosomal recessive Pigs (MGI:2687325) -chr17 28573114 28576962 17cen-q12 17q11.2 103870 ALDOC Aldolase C, fructose-bisphosphatase ALDOC 230 ENSG00000109107 Aldoc (MGI:101863) -chr17 28577573 28599024 17q11.2 17q11.2 615562 SPAG5, MAP126, ASTRIN Sperm-associated antigen 5 SPAG5 10615 ENSG00000076382 Spag5 (MGI:1927470) -chr17 28614439 28645158 17q11.2 17q11.2 610664 KIAA0100, BCOX1 KIAA0100 gene KIAA0100 9703 ENSG00000007202 2610507B11Rik (MGI:1919753) -chr17 28648345 28662193 17q11.2 17q11.2 602934 SDF2 Stromal cell-derived factor-2 SDF2 6388 ENSG00000132581 Sdf2 (MGI:108019) -chr17 28662182 28702678 17q11.2 17q11.2 601333 SUPT6H SPT6 homolog, histone chaperone and transcription elongation factor SUPT6H 6830 ENSG00000109111 Supt6 (MGI:107726) -chr17 28703196 28712064 17q11.2 17q11.2 617376 PROCA1 Proline-rich cyclin A1-interacting protein PROCA1 147011 ENSG00000167525 Proca1 (MGI:1918274) -chr17 28714280 28718439 17q11.1 17q11.2 610917 RAB34, RAH Ras-associated protein 34 RAB34 83871 ENSG00000109113 Rab34 (MGI:104606) -chr17 28719984 28724358 17q11 17q11.2 602326 RPL23A Ribosomal protein L23a RPL23A 6147 ENSG00000198242 Gm10132,Rpl23a (MGI:3704449,MGI:3040672) -chr17 28728787 28743454 17q11.1 17q11.2 609799 NEK8, JCK, NPHP9, RHPD2 NIMA-related kinase 8 NEK8 284086 ENSG00000160602 mutations identified in 1 family with NPHP9 Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive; ?Nephronophthisis 9, 613824 (3) Nek8 (MGI:1890646) -chr17 28744003 28750955 17q11.2 17q11.2 602464 TRAF4, MLN62, CART1 TNF receptor-associated factor 4 TRAF4 9618 ENSG00000076604 Traf4 (MGI:1202880) -chr17 28855015 28861060 17q11.2 17q11.2 607435 ERAL1, ERAL1A, ERAL1B, PRLTS6 ERA G-protein-like 1 ERAL1 26284 ENSG00000132591 Perrault syndrome 6, 617565 (3), Autosomal recessive Eral1 (MGI:1889295) -chr17 28861368 28861439 17q11.2 17q11.2 612071 MIR451, MIRN451 Micro RNA 451 MIR451A 574411 ENSG00000284565 Mir451a (MGI:3619412) -chr17 28861532 28861617 17q11.2 17q11.2 612070 MIR144, MIRN144 Micro RNA 144 MIR144 406936 ENSG00000283819 Mir144 (MGI:2676829) -chr17 28879338 28897732 17q11-q12 17q11.2 131560 FLOT2, M17S1, ECS1, ESA1 Flotillin 2 (epidermal surface antigen 1) FLOT2 2319 ENSG00000132589 ~180kb centromeric to NF1 Flot2 (MGI:103309) -chr17 28897780 28903078 17q11.2 17q11.2 616157 DHRS13, SDR7C5 Short-chain dehydrogenase reductase family, member 13 DHRS13 147015 ENSG00000167536 Dhrs13 (MGI:1917701) -chr17 28905249 28951517 17q11.2 17q11.2 618645 PHF12, PF1 PHD finger protein 12 PHF12 57649 ENSG00000109118 Phf12 (MGI:1924057) -chr17 28954904 29006439 17q11.2 17q11.2 616666 SEZ6, BSRPC Seizure-related 6, mouse, homolog of SEZ6 124925 ENSG00000063015 Sez6 (MGI:104745) -chr17 29043140 29057226 17q11.2 17q11.2 616713 PIPOX Pipecolic acid oxidase PIPOX 51268 ENSG00000179761 Pipox (MGI:1197006) -chr17 29071121 29180397 17q11.2 17q11.2 610067 MYO18A, SPR210 Myosin XVIIIA MYO18A 399687 ENSG00000196535 Myo18a (MGI:2667185) -chr17 29073520 29075608 17q11.2 17q11.2 609517 TIAF1, MYO18A, MYSPDZ, MAJN, SPR210, KIAA0216 TGFB1-induced antiapoptotic factor 1 TIAF1 9220 ENSG00000221995 -chr17 29246858 29254493 17q11.1-q12 17q11.2 123610 CRYBA1, CRYB1, CTRCT10 Crystallin, beta A1 CRYBA1 1411 ENSG00000108255 centromeric to NF1 Cataract 10, multiple types, 600881 (3), Autosomal dominant Cryba1 (MGI:88518) -chr17 29255838 29294147 17q11.2 17q11.2 609356 NUFIP2, KIAA1321, PIG1 Nuclear fragile X mental retardation protein-interacting protein 2 NUFIP2 57532 ENSG00000108256 Nufip2 (MGI:1915814) -chr17 29390362 29551902 17q11.2 17q11.2 610266 TAOK1, PSK2, TAO1, MARKK TAO kinase 1 TAOK1 57551 ENSG00000160551 Taok1 (MGI:1914490) -chr17 29573474 29589647 17q11.2 17q11.2 608434 GIT1 GIT ArfGap 1 GIT1 28964 ENSG00000108262 Git1 (MGI:1927140) -chr17 29589768 29615005 17q11.2 17q11.2 615124 ANKRD13B Ankyrin repeat domain-containing protein 13B ANKRD13B 124930 ENSG00000198720 Ankrd13b (MGI:2144501) -chr17 29625937 29930238 17q11.2 17q11.2 606779 SSH2, KIAA1725 Slingshot, Drosophila, homolog of, 2 SSH2 85464 ENSG00000141298 Ssh2 (MGI:2679255) -chr17 30116815 30186474 17q11.2 17q11.2 616173 NSRP1, NSRP70, CCDC55 Nuclear speckle splicing regulatory protein 1 NSRP1 84081 ENSG00000126653 Nsrp1 (MGI:2144305) -chr17 30194318 30235696 17q11.1-q12 17q11.2 182138 SLC6A4, HTT, OCD1 Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 SLC6A4 6532 ENSG00000108576 {Obsessive-compulsive disorder}, 164230 (3), Autosomal dominant; {Anxiety-related personality traits}, 607834 (3) Slc6a4 (MGI:96285) -chr17 30248202 30291943 17q11.2 17q11.2 602403 BLMH, BMH Bleomycin hydrolase BLMH 642 ENSG00000108578 Blmh (MGI:1345186) -chr17 30378926 30469988 17p11.1-q11.1 17q11.2 603102 CPD Carboxypeptidase D CPD 1362 ENSG00000108582 Cpd (MGI:107265) -chr17 30477401 30527591 17q11 17q11.2 604026 GOSR1, GOS28, GS28 Golgi snap receptor complex member 1 GOSR1 9527 ENSG00000108587 Gosr1 (MGI:1858260) -chr17 30782683 30824691 17q11.2 17q11.2 614853 CRLF3, CYTOR4, CRLM9, CREME9 Cytokine receptor-like factor 3 CRLF3 51379 ENSG00000176390 Crlf3 (MGI:1860086) -chr17 30830829 30895868 17q11.2 17q11.2 609534 ATAD5, C17orf41, FRAG1, FLJ12735 ATPase family, AAA domain containing 5 ATAD5 79915 ENSG00000176208 Atad5 (MGI:2442925) -chr17 30898982 30907628 17q11.2 17q11.2 616422 TEFM, C17orf42 Transcription elongation factor, mitochondrial TEFM 79736 ENSG00000172171 Tefm (MGI:1915800) -chr17 30921903 30959397 17q11.2 17q11.2 608635 ADAP2, CENTA2 ArfGAP with dual PH domains 2 ADAP2 55803 ENSG00000184060 Adap2 (MGI:2663075) -chr17 30968641 30999910 17q11 17q11.2 611358 RNF135 Ring finger protein 135 RNF135 84282 ENSG00000181481 Rnf135 (MGI:1919206) -chr17 31094926 31377676 17q11.2 17q11.2 613113 NF1, VRNF, WSS, NFNS Neurofibromin (neurofibromatosis, type I) NF1 4763 ENSG00000196712 Watson syndrome, 193520 (3), Autosomal dominant; Leukemia, juvenile myelomonocytic, 607785 (3), Somatic mutation, Autosomal dominant; Neurofibromatosis, familial spinal, 162210 (3), Autosomal dominant; Neurofibromatosis, type 1, 162200 (3), Autosomal dominant; Neurofibromatosis-Noonan syndrome, 601321 (3), Autosomal dominant Nf1 (MGI:97306) -chr17 31294646 31297238 17q11.2 17q11.2 164345 OMG, OMGP Oligodendrocyte-myelin glycoprotein OMG 4974 ENSG00000126861 within the NF1 gene Omg (MGI:106586) -chr17 31303769 31314148 17q11.2 17q11.2 158381 EVI2B, EVDB Ecotropic viral integration site 2B EVI2B 2124 ENSG00000185862 within the NF1 gene Evi2,Evi2b (MGI:5439444,MGI:1890682) -chr17 31316409 31321621 17q11.2 17q11.2 158380 EVI2A, EVI2, EVDA Ecotropic viral integration site 2A EVI2A 2123 ENSG00000126860 within the NF1 gene Evi2a (MGI:95458) -chr17 31391674 31538210 17q11.2 17q11.2 611999 RAB11FIP4, KIAA1821 RAB11 family-interacting protein 4 RAB11FIP4 84440 ENSG00000131242 Rab11fip4 (MGI:2442920) -chr17 31559995 31560082 17q11.2 17q11.2 614733 MIR193A Micro RNA 193A MIR193A 406968 ENSG00000207614 Mir193a (MGI:2676857) -chr17 31937006 32001039 17q11.2 17q11.2 606245 SUZ12, JJAZ1, KIAA0160, IMMAS SUZ12 polycomb repressive complex 2 subunit SUZ12 23512 ENSG00000178691 Imagawa-Matsumoto syndrome, 618786 (3), Autosomal dominant Suz12 (MGI:1261758) -chr17 32007382 32053486 17q11.2 17q11.2 616558 LRRC37B Leucine-rich repeat-containing protein 37B LRRC37B 114659 ENSG00000185158 -chr17 32142501 32253373 17q11.2 17q11.2 613888 RHOT1, MIRO1, ARHT1 Ras homolog gene family, member T1 RHOT1 55288 ENSG00000126858 Rhot1 (MGI:1926078) -chr17 32265831 32324660 17q11.2 17q11.2 619017 RHBDL3, VRHO Rhomboid-like 3 RHBDL3 162494 ENSG00000141314 Rhbdl3 (MGI:2179276) -chr17 32350156 32381884 17q11.2 17q11.2 603428 ZNF207 Zinc finger protein-207 ZNF207 7756 ENSG00000010244 mapped by FISH to 6p21.3 Zfp207 (MGI:1340045) -chr17 32444509 32483318 17q11.2 17q11.2 604449 PSMD11, S9 Proteasome 26S subunit, non-ATPase, 11 PSMD11 5717 ENSG00000108671 Psmd11 (MGI:1916327) -chr17 32485027 32491255 17q11.2 17q11.2 603460 CDK5R1, p35 Cyclin-dependent kinase 5, regulatory subunit 1 CDK5R1 8851 ENSG00000176749 Cdk5r1 (MGI:101764) -chr17 32492521 32877171 17q11-q12 17q11.2 606539 MYO1D, KIAA0727 Myosin ID MYO1D 4642 ENSG00000176658 Myo1d (MGI:107728) -chr17 32928152 32944314 17q11.2 17q11.2 615949 TMEM98, NNO4 Transmembrane protein 98 TMEM98 26022 ENSG00000006042 Nanophthalmos 4, 615972 (3), Autosomal dominant Tmem98 (MGI:1923457) -chr17 32991846 32997876 17q12 17q11.2 612749 SPACA3, LYZL3, SLLP1, LYC3, ALLP17 Sperm acrosome-associated 3 SPACA3 124912 ENSG00000141316 Spaca3 (MGI:1922872) -chr17 33013086 34156767 17q11.2-q12 17q11-q12 601784 ACCN1, BNC1, MDEG Amiloride-sensitive cation channel 1, neuronal (degenerin) ASIC2 40 ENSG00000108684 Asic2 (MGI:1100867) -chr17 33500000 39800000 17q12 609467 CCL3P1, CCL3L2 Chemokine, CC motif, ligane 3, pseudogene 1 CCL3P1 390788 -chr17 33500000 39800000 17q12 603782 CCL4L, SCYA4L, LAG1 Chemokine, C-C motif, ligand 4-like CCL4L1 388372 Ccl4 (MGI:98261) -chr17 33500000 39800000 17q12 614527 DEL17q12, C17DELq12 Chromosome 17q12 deletion syndrome Chromosome 17q12 deletion syndrome, 614527 (4), Autosomal dominant -chr17 33500000 39800000 17q12 614526 DUP17q12, C17DUPq12 Chromosome 17q12 duplication syndrome Chromosome 17q12 duplication syndrome, 614526 (4), Autosomal dominant -chr17 33500000 39800000 17q12 611955 HPC11 Prostate cancer, hereditary, 11 associated with rs4430796 and rs7501939 {Prostate cancer, hereditary, 11}, 611955 (2) -chr17 33500000 39800000 17q12 614221 PBC5 Biliary cirrhosis, primary, 5 100689212 associated with rs9303277 Biliary cirrhosis, primary, 5, 614221 (2) -chr17 33500000 52100000 17q12-q21 601363 WT4 Wilms tumor-4 8151 Wilms tumor, type 4, 601363 (2), Autosomal dominant -chr17 34255284 34257202 17q11.2-q12 17q12 158105 CCL2, SCYA2, MCP1, MCAF Small inducible cytokine A2 (monocyte chemotactic protein, homologous to mouse Sig-je) CCL2 6347 ENSG00000108691 {Mycobacterium tuberculosis, susceptibility to}, 607948 (3); {HIV-1, resistance to}, 609423 (3); {Coronary artery disease, modifier of} (3); {Spina bifida, susceptibility to}, 182940 (3), Autosomal dominant Ccl12,Ccl2 (MGI:98259,MGI:108224) -chr17 34270220 34272241 17q11.2-q12 17q12 158106 CCL7, SCYA7, MCP3 Chemokine, C-C motif, ligand 5 CCL7 6354 ENSG00000108688 close to ERBB2 Ccl7 (MGI:99512) -chr17 34285741 34288333 17q21.1-q21.2 17q12 601156 CCL11, SCYA11 Chemokine, C-C motif, ligand 11 CCL11 6356 ENSG00000172156 {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {HIV1, resistance to}, 609423 (3) Ccl11 (MGI:103576) -chr17 34319434 34321401 17q11.2 17q12 602283 CCL8, SCYA8 Chemokine, C-C motif, ligand 8 CCL8 6355 ENSG00000108700 Ccl12,Ccl8 (MGI:101878,MGI:108224) -chr17 34356479 34358609 17q11.2 17q12 601391 CCL13, SCYA13, NCC1 Chemokine, C-C motif, ligand 13 CCL13 6357 ENSG00000181374 Ccl11 (MGI:103576) -chr17 34360327 34363232 Chr.17 17q12 182281 CCL1, SCYA1 Chemokine, C-C motif, ligand 1 CCL1 6346 ENSG00000108702 Ccl1 (MGI:98258) -chr17 34579581 34639317 17q12 17q12 616178 TMEM132E, DFNB99 Transmembrane protein 132E TMEM132E 124842 ENSG00000181291 Deafness, autosomal recessive 99, 618481 (3), Autosomal recessive Tmem132e (MGI:2685490) -chr17 34927860 34981221 17q12 17q12 610730 CCT6B, CCTZ2 Chaperonin containing T-complex polypeptide 1, subunit 6B CCT6B 10693 ENSG00000132141 Cct6b (MGI:1329013) -chr17 34980503 35009742 17q11.2-q12 17q12 600940 LIG3 Ligase III, DNA, ATP-dependent LIG3 3980 ENSG00000005156 Lig3 (MGI:109152) -chr17 35005989 35089225 17q12 17q12 609735 RFFL Ring finger and FYVE-like domain containing 1 (rififylin) RFFL 117584 ENSG00000092871 Rffl (MGI:1914588) -chr17 35092220 35119859 17q11 17q12 602954 RAD51D, RAD51L3, BROVCA4 RAD51 paralog D RAD51D 5892 ENSG00000185379 {Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3) Rad51d (MGI:1261809) -chr17 35147792 35189344 17q11 17q12 611220 UNC45B, SMUNC45, CTRCT43, MFM11 unc-45 myosin chaperone B UNC45B 146862 ENSG00000141161 mutation identified in 1 CTRCT43 family ?Cataract 43, 616279 (3), Autosomal dominant; Myofibrillar myopathy 11, 619178 (3), Autosomal recessive Unc45b (MGI:2443377) -chr17 35243071 35273654 17q12 17q12 614952 SLFN5 Schlafen family, member 5 SLFN5 162394 ENSG00000166750 Slfn5 (MGI:1329004) -chr17 35350304 35373620 17q12 17q12 614953 SLFN11 Schlafen family, member 11 SLFN11 91607 ENSG00000172716 Slfn8,Slfn9 (MGI:2672859,MGI:2445121) -chr17 35407170 35433309 17q12 17q12 614955 SLFN12 Schlafen family, member 12 SLFN12 55106 ENSG00000172123 Slfn1,Slfn4 (MGI:1313259,MGI:1329010) -chr17 35435095 35451102 17q12 17q12 614957 SLFN13 Schlafen family, member 13 SLFN13 146857 ENSG00000154760 Slfn8,Slfn10-ps,Slfn9 (MGI:2672859,MGI:2445121,MGI:3512288) -chr17 35464253 35537860 17q12 17q12 614956 SLFN12L Schlafen family, member 12-like SLFN12L 100506736 ENSG00000205045 Slfn1,Slfn2,Slfn4 (MGI:1313258,MGI:1313259,MGI:1329010) -chr17 35543984 35560818 17q12 17q12 614958 SLFN14, BDPLT20 Schlafen family, member 14 SLFN14 342618 ENSG00000236320 Bleeding disorder, platelet-type, 20, 616913 (3), Autosomal dominant Slfn14 (MGI:2684866) -chr17 35574794 35578570 17q12 17q12 601758 PEX12, PBD3A Peroxisome biogenesis factor 12 PEX12 5193 ENSG00000108733 Peroxisome biogenesis disorder 3B, 266510 (3), Autosomal recessive; Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3), Autosomal recessive Pex12 (MGI:2144177) -chr17 35587264 35726412 17q11.2-q12 17q12 601025 AP2B1, CLAPB1, ADTB2 Adaptor-related protein complex 2, beta 1 subunit AP2B1 163 ENSG00000006125 Ap2b1 (MGI:1919020) -chr17 35731638 35743520 17q12 17q12 612128 RASL10B, RRP17 Ras-like, family 10, member B RASL10B 91608 ENSG00000270885 Rasl10b (MGI:2685575) -chr17 35744510 35753238 17q12 17q12 611398 GAS2L2, GAR17, CILD41 Growth arrest-specific 2-like 2 GAS2L2 246176 ENSG00000270765 mutation identified in 1 CILD41 patient ?Ciliary dyskinesia, primary, 41, 618449 (3), Autosomal recessive Gas2l2 (MGI:3652048) -chr17 35756248 35795706 17q11.2 17q12 608417 MMP28 Matrix metalloproteinase 28 MMP28 79148 ENSG00000271447 Mmp28 (MGI:2153062) -chr17 35809483 35847241 17q11.1-q11.2 17q12 601574 TAF15, TAF2N, RBP56 TAF15 RNA polymerase II, TATA box-binding protein-associated factor, 68kD TAF15 8148 ENSG00000270647 fusion gene with CSMF Chondrosarcoma, extraskeletal myxoid, 612237 (1) Taf15 (MGI:1917689) -chr17 35871490 35880359 17q11.2-q12 17q12 187011 CCL5, SCYA5, D17S136E, TCP228 Chemokine, C-C motif, ligand 5 CCL5 6352 ENSG00000271503 {HIV-1 disease, rapid progression of}, 609423 (3); {HIV-1 disease, delayed progression of}, 609423 (3) Ccl5 (MGI:98262) -chr17 35918079 35931820 17q11.2 17q12 612896 RDM1 RAD52 motif-containing protein 1 RDM1 201299 ENSG00000278023 Rdm1 (MGI:1913849) -chr17 35934517 35943712 17q11.2 17q12 612751 LYZL6 Lysozyme-like 6 LYZL6 57151 ENSG00000275722 Lyzl6 (MGI:1916694) -chr17 35976492 35983619 17q11.2 17q12 601394 CCL16, SCYA16, NCC4 Chemokine, C-C motif, ligand 16 CCL16 6360 ENSG00000275152 -chr17 35983287 35986728 17q11.2 17q12 601392 CCL14, SCYA14, NCC2 Chemokine, C-C motif, ligand 14 CCL14 6358 ENSG00000276409 -chr17 35997581 36001552 17q11.2 17q12 601393 CCL15, SCYA15, NCC3, LKN1 Chemokine, C-C motif, ligand 15 CCL15 6359 ENSG00000275718 Ccl9,Ccl6 (MGI:104533,MGI:98263) -chr17 36013055 36018178 17q12 17q12 602494 CCL23, SCYA23 Chemokine, C-C motif, ligand 23 CCL23 6368 ENSG00000274736 Ccl9,Ccl6 (MGI:104533,MGI:98263) -chr17 36064271 36072031 17q11.2 17q12 603757 CCL18, SCYA18, PARC, AMAC1, DCCK1 Chemokine, C-C motif, ligand 18 CCL18 6362 ENSG00000275385 in 47kb, CCL18-CCL3-CCL4 Ccl3 (MGI:98260) -chr17 36088255 36090142 17q12 17q12 182283 CCL3, SCYA3, MIP1A Chemokine, C-C motif, ligand 3 CCL3 6348 ENSG00000277632 in 47kb, CCL18-CCL3-CCL4 {HIV infection, resistance to}, 609423 (2) Ccl3 (MGI:98260) -chr17 36103826 36105613 17q12 17q12 182284 CCL4, SCYA4, ACT2, MIP1B, AT744.1 Chemokine, C-C motif, ligand 4 CCL4 6351 ENSG00000275302 Ccl4 (MGI:98261) -chr17 36165682 36176635 17q12 17q12 610144 TBC1D3B, PRC17 TBC1 domain family, member 3B TBC1D3B 414059 ENSG00000274808 -chr17 36194868 36196757 17q12 17q12 609468 CCL3L3 Chemokine, CC motif, ligand 3-like 3 CCL3L3 414062 ENSG00000276085 Ccl3 (MGI:98260) -chr17 36211062 36212872 17q12 17q12 610757 CCL4L2 Chemokine, CC motif, ligand 4-like 2 CCL4L2 9560 ENSG00000276070 Ccl4 (MGI:98261) -chr17 36322241 36334758 17q12 17q12 610810 TBC1D3G TBC1 domain family, member 3G TBC1D3G 101060321 ENSG00000260287 -chr17 36377530 36388451 17q12 17q12 610811 TBC1D3H TBC1 domain family, member 3H TBC1D3H 729877 ENSG00000274226 -chr17 36428611 36439520 17q12 17q12 610809 TBC1D3F TBC1 domain family, member 3F TBC1D3F 84218 ENSG00000275954 -chr17 36486680 36499311 17q12 17q12 604500 ZNHIT3, TRIP3, PEHO Zinc finger HIT domain-containing protein 3 ZNHIT3 9326 ENSG00000273611 PEHO syndrome, 260565 (3), Autosomal recessive Znhit3 (MGI:3051596) -chr17 36495635 36535337 17q12 17q12 617379 MYO19, MYOHD1 Myosin XIX MYO19 80179 ENSG00000278259 Myo19 (MGI:1913446) -chr17 36534986 36539302 17q12 17q12 610275 PIGW, HPMRS5 Phosphatidylinositol glycan, class W PIGW 284098 ENSG00000277161 Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3), Autosomal recessive Pigw (MGI:1917575) -chr17 36544912 36589847 17q12-q21.1 17q12 612275 GGNBP2, DIF3, LCRG1, LZK1 Gametogenetin-binding protein 2 GGNBP2 79893 ENSG00000278311 Ggnbp2 (MGI:2387356) -chr17 36591845 36600803 17q12 17q12 616159 DHRS11, SDR24C1 Short-chain dehydrogenase reductase family, member 11 DHRS11 79154 ENSG00000278535 Dhrs11 (MGI:2652816) -chr17 36601582 36634697 17q12 17q12 618099 MRM1 Mitochondrial ribosomal RNA methyltransferase 1 MRM1 79922 ENSG00000278619 Mrm1 (MGI:2443470) -chr17 36937474 36944611 17q12 17q12 601999 LHX1, LIM1 LIM/homeodomain protein LHX1 LHX1 3975 ENSG00000273706 previously mapped to 11p13-p12 by FISH Lhx1 (MGI:99783) -chr17 36948953 37056870 17q11.2-q12 17q12 608463 AATF, CHE1 Apoptosis-antagonizing transcription factor AATF 26574 ENSG00000275700 Aatf (MGI:1929608) -chr17 37084991 37406835 17q21 17q12 200350 ACACA, ACAC, ACC1, ACACAD Acetyl-Coenzyme A carboxylase, alpha ACACA 31 ENSG00000278540 proximal to q21.33; others put at 17q12 Acetyl-CoA carboxylase deficiency, 613933 (1), Autosomal recessive Acaca (MGI:108451) -chr17 37406876 37479724 17q12-q21 17q12 602276 TADA2L, TADA2A, ADA2A Transcriptional adaptor 2A TADA2A 6871 ENSG00000276234 Tada2a (MGI:2144471) -chr17 37488560 37513500 Chr.17 17q12 606618 DUSP14, MKP6 Dual-specificity phosphatase 14 DUSP14 11072 ENSG00000276023 Dusp14 (MGI:1927168) -chr17 37514806 37609495 Chr.17 17q12 607291 AP1GBP1, SYNG Adaptor-related protein complex 1 gamma subunit-binding protein 1 SYNRG 11276 ENSG00000275066 Synrg (MGI:1354742) -chr17 37609738 37643447 17q21.1 17q12 612500 DDX52, ROK1, HUSSY19 DExD-box helicase 52 DDX52 11056 ENSG00000278053 Ddx52 (MGI:1925644) -chr17 37686430 37745058 17q12 17q12 189907 HNF1B, TCF2, HNF2, RCAD, T2D, ADTKD3 HNF1 homeobox B (transcription factor 2) HNF1B 6928 ENSG00000275410 Type 2 diabetes mellitus, 125853 (3), Autosomal dominant; Renal cysts and diabetes syndrome, 137920 (3), Autosomal dominant; {Renal cell carcinoma}, 144700 (3) Hnf1b (MGI:98505) -chr17 38004032 38014907 17q12 17q12 610807 TBC1D3D TBC1 domain family, member 3D TBC1D3D 101060389 ENSG00000274419 -chr17 38057692 38068633 17q12 17q12 610806 TBC1D3C TBC1 domain family, member 3C TBC1D3C 414060 ENSG00000278299 -chr17 38118407 38138867 17q12 17q12 610808 TBC1D3E TBC1 domain family, member 3E TBC1D3E 102723859 ENSG00000278599 -chr17 38181658 38192554 17q12 17q12 607741 TBC1D3, PRC17, TBC1D3A TBC1D3 gene TBC1D3 729873 ENSG00000274611 -chr17 38297167 38323210 17q21.31 17q12 611850 MRPL45 Mitochondrial ribosomal protein L45 MRPL45 84311 ENSG00000278845 pseudogenes on 2 and 17 Mrpl45 (MGI:1914286) -chr17 38324570 38343955 17q12 17q12 614515 GPR179, GPR158L, GPR158L1, CSNB1E G protein-coupled receptor 179 GPR179 440435 ENSG00000277399 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3), Autosomal recessive Gpr179 (MGI:2443409) -chr17 38351843 38405592 17q12 17q12 608788 SOCS7, NAP4 Suppressor of cytokine signaling 7 SOCS7 30837 ENSG00000274211 Socs7 (MGI:2651588) -chr17 38419285 38512388 17q12 17q12 610590 ARHGAP23, KIAA1501 RHO GTPase-activating protein 23 ARHGAP23 57636 ENSG00000275832 Arhgap23 (MGI:3697726) -chr17 38530014 38607165 17q12 17q12 610786 SRCIN1, SNIP, KIAA1684 Src kinase signaling inhibitor 1 SRCIN1 80725 ENSG00000277363 Srcin1 (MGI:1933179) -chr17 38671702 38674956 17q12 17q12 617795 EPOP, C17orf96 Elongin BC- and polycomb repressive complex 2-associated protein EPOP 100170841 ENSG00000273604 Epop (MGI:2143991) -chr17 38705272 38729794 17q21 17q12 600328 MLLT6, AF17 Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6 MLLT6 4302 ENSG00000275023 Mllt6 (MGI:1935145) -chr17 38730340 38735604 17q12 17q12 611933 CISD3, MINER2 CDGSH iron sulfur domain protein 3 CISD3 284106 ENSG00000277972 Cisd3 (MGI:101788) -chr17 38733897 38749816 17q12 17q12 600346 PCGF2, RNF110, ZNF144, MEL18, TPFS Polycomb group ring finger 2 PCGF2 7703 ENSG00000277258 Turnpenny-Fry syndrome, 618371 (3), Autosomal dominant Pcgf2 (MGI:99161) -chr17 38752740 38764224 17q12 17q12 602176 PSMB3 Proteasome subunit, beta type, 3 PSMB3 5691 ENSG00000277791 previously assigned to 2q35 Psmb3 (MGI:1347014) -chr17 38765690 38799575 17q12 17q12 603261 PIP4K2B, PIP5P4KB, PIP5K2B Phosphatidylinositol 5-phosphate 4-kinase, type II, beta PIP4K2B 8396 ENSG00000276293 Pip4k2b (MGI:1934234) -chr17 38847859 38853720 17q 17q12 603662 RPL23 Ribosomal protein L23 RPL23 9349 ENSG00000125691 Rpl23 (MGI:1929455) -chr17 38870057 38921769 17q21 17q12 602920 LASP1, MLN50 LIM and SH3 protein 1 LASP1 3927 ENSG00000002834 fused to MLL in AML Lasp1 (MGI:109656) -chr17 38925167 38929383 17q12 17q12 617544 LINC00672 Long intergenic noncoding RNA 672 LINC00672 100505576 ENSG00000263874 -chr17 38936277 38967475 17q12 17q12 609498 FBXO47 F-box only protein 47 FBXO47 494188 ENSG00000204952 Fbxo47 (MGI:1920223) -chr17 39063312 39151636 17q21.1 17q12 606826 PLXDC1, TEM7 Plexin domain containing 1 PLXDC1 57125 ENSG00000161381 Plxdc1 (MGI:1919574) -chr17 39173452 39197668 17q21-q22 17q12 114207 CACNB1, CACNLB1, CCHLB1 Calcium channel, voltage-dependent, beta 1 subunit CACNB1 782 ENSG00000067191 Cacnb1 (MGI:102522) -chr17 39200282 39204731 17q12 17q12 180466 RPL19 Ribosomal protein L19 RPL19 6143 ENSG00000108298 Rpl19 (MGI:98020) -chr17 39252662 39402555 17q21.2 17q12 609086 FBXL20, FBL20, FBL2, SCR F-box and leucine-rich repeat protein 20 FBXL20 84961 ENSG00000108306 Fbxl20 (MGI:1919444) -chr17 39404284 39451280 17q12 17q12 604311 MED1, PPARBP, PBP, TRAP220 Mediator complex subunit 1 (peroxisome proliferator-activated receptor-binding protein) MED1 5469 ENSG00000125686 Med1 (MGI:1100846) -chr17 39461485 39567559 17q21 17q12 615514 CDK12, CRKRS, CRK7, KIAA0904 Cyclin-dependent kinase 12 CDK12 51755 ENSG00000167258 Cdk12 (MGI:1098802) -chr17 39603767 39607919 17q12 17q12 601725 NEUROD2, DEE72 Neurogenic differentiation 2 NEUROD2 4761 ENSG00000171532 Developmental and epileptic encephalopathy 72, 618374 (3), Autosomal dominant Neurod2 (MGI:107755) -chr17 39626734 39636624 17q12 17q12 604399 PPP1R1B, DARPP32 Protein phosphatase 1, regulatory subunit 1B PPP1R1B 84152 ENSG00000131771 Ppp1r1b (MGI:94860) -chr17 39637143 39664200 17q11-q21 17q12 607048 STARD3, MLN64 Start domain-containing protein 3 STARD3 10948 ENSG00000131748 Stard3 (MGI:1929618) -chr17 39665348 39666553 17q12 17q12 604488 TCAP, LGMDR7, CMH25 Telethonin TCAP 8557 ENSG00000173991 Cardiomyopathy, hypertrophic, 25, 607487 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3), Autosomal recessive Tcap (MGI:1330233) -chr17 39668018 39670474 17q12 17q12 171190 PNMT, PENT Phenylethanolamine N-methyltransferase PNMT 5409 ENSG00000141744 Pnmt (MGI:97724) -chr17 39671121 39688056 17q12 17q12 611801 PGAP3, PERLD1, CAB2, MGC9753, HPMRS4 Post-GPI attachment to proteins 3 PGAP3 93210 ENSG00000161395 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3), Autosomal recessive Pgap3 (MGI:2444461) -chr17 39688093 39728659 17q21.1 17q12 164870 ERBB2, NGL, NEU, HER2, VSCN2 Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog) ERBB2 2064 ENSG00000141736 mutation identified in 1 VSCN2 family Gastric cancer, somatic, 613659 (3); Adenocarcinoma of lung, somatic, 211980 (3); Ovarian cancer, somatic, 167000 (3); ?Visceral neuropathy, familial, 2, autosomal recessive, 619465 (3), Autosomal recessive; Glioblastoma, somatic, 137800 (3) Erbb2 (MGI:95410) -chr17 39728509 39730531 17q12 17q12 611802 MIEN1, C17orf37, RDX12 Migration and invasion enhancer 1 MIEN1 84299 ENSG00000141741 Mien1 (MGI:1913678) -chr17 39737937 39747284 17q21-q22 17q12 601522 GRB7 Growth factor receptor-bound protein 7 GRB7 2886 ENSG00000141738 Grb7 (MGI:102683) -chr17 39757714 39864311 17q21 17q-q 606221 IKZF3, ZNFN1A3, AIOLOS, IMD84 Ikaros family zinc finger 3 IKZF3 22806 ENSG00000161405 mutation identified in 1 IMD84 family ?Immunodeficiency 84, 619437 (3) Ikzf3 (MGI:1342542) -chr17 39868163 39877895 17q12-q21 17q21.1 608499 ZPBP2, ZPBPL Zona pellucida-binding protein 2 ZPBP2 124626 ENSG00000186075 Zpbp2 (MGI:1916626) -chr17 39904594 39918634 17q21 17q21.1 611221 GSDMB, GSDML Gasdermin B GSDMB 55876 ENSG00000073605 -chr17 39921040 39927600 17q21.1 17q21.1 610075 ORMDL3 ORM1-like protein 3 ORMDL3 94103 ENSG00000172057 Ormdl3 (MGI:1913862) -chr17 39962972 39977767 17q12 17q21.1 611218 GSDMA, GSDM1, GSDM Gasdermin A GSDMA 284110 ENSG00000167914 Gsdma,Gsdma3,Gsdma2 (MGI:1921490,MGI:1889509,MGI:3044668) -chr17 39980806 39997958 17q21.1 17q21.1 617676 PSMD3, RPN3 Proteasome 26S subunit, non-ATPase, 3 PSMD3 5709 ENSG00000108344 Psmd3 (MGI:98858) -chr17 40015439 40017812 17q11.2-q12 17q21.1 138970 CSF3, GCSF Colony-stimulating factor-3 (granulocyte) CSF3 1440 ENSG00000108342 Csf3 (MGI:1339751) -chr17 40019103 40054407 17q21.1 17q21.1 607000 MED24, TRAP100, KIAA0130 Mediator complex subunit 24 MED24 9862 ENSG00000008838 Med24 (MGI:1344385) -chr17 40062192 40093866 17q11.2 17q21.1 190120 THRA, ERBA1, THRA1, CHNG6 Thyroid hormone receptor, alpha (oncogene ERBA1) THRA 7067 ENSG00000126351 Hypothyroidism, congenital, nongoitrous, 6, 614450 (3), Autosomal dominant Thra (MGI:98742) -chr17 40092792 40100588 17q11.2 17q21.1 602408 NR1D1, THRAL, EAR1 Nuclear receptor 1, subfamily D, member 1 (thyroid hormone receptor, alpha-1-like) NR1D1 9572 ENSG00000126368 Nr1d1 (MGI:2444210) -chr17 40121970 40136916 17q21.1 17q21.1 614801 MSL1 MSL complex subunit 1 MSL1 339287 ENSG00000188895 Msl1 (MGI:1921276) -chr17 40140505 40172171 17q12-q21.3 17q21.1 606504 MLN51, CASC3 MLN51 gene CASC3 22794 ENSG00000108349 Casc3 (MGI:2179723) -chr17 40200000 42800000 17q21.2 612380 IBD22 Inflammatory bowel disease 22 100240732 associated with rs744166 {Inflammatory bowel disease 22}, 612380 (2) -chr17 40219303 40284135 17q21.2 17q21.2 609692 WIRE, WICH WASP-interacting protein-related protein WIPF2 147179 ENSG00000171475 Wipf2 (MGI:1924462) -chr17 40287877 40304656 17q21.2 17q21.2 602627 CDC6, CDC18L, MGORS5 Cell division cycle 6 CDC6 990 ENSG00000094804 mutation identified in 1 MGORS5 patient ?Meier-Gorlin syndrome 5, 613805 (3), Autosomal recessive Cdc6 (MGI:1345150) -chr17 40309179 40357642 17q21.1 17q21.2 180240 RARA Retinoic acid receptor, alpha polypeptide RARA 5914 ENSG00000131759 fused with MYL in APL Leukemia, acute promyelocytic, 612376 (1) Rara (MGI:97856) -chr17 40360651 40364736 17q21.1 17q21.2 607425 GJD3, GJC1, CX31.9 Gap junction protein, delta-3 (31.9kD) GJD3 125111 ENSG00000183153 Gjd3 (MGI:2384150) -chr17 40388524 40417901 17q21-q22 17q21.2 126430 TOP2A, TOP2 Topoisomerase (DNA) II, alpha, 170kD TOP2A 7153 ENSG00000131747 DNA topoisomerase II, resistance to inhibition of, by amsacrine (3) Top2a (MGI:98790) -chr17 40443449 40457724 17q12-q21 17q21.2 146733 IGFBP4 Insulin-like growth factor-binding protein-4 IGFBP4 3487 ENSG00000141753 Igfbp4 (MGI:96439) -chr17 40475827 40501680 17q12-q21 17q21.2 608385 TNS4, CTEN Tensin 4 TNS4 84951 ENSG00000131746 Tns4 (MGI:2144377) -chr17 40553768 40565471 17q12-q21.2 17q21.2 600242 CCR7, CMKBR7, EBI1 Chemokine (C-C) receptor 7 (Epstein-Barr virus induced gene 1) CCR7 1236 ENSG00000126353 Ccr7 (MGI:103011) -chr17 40624961 40647817 17q21.2 17q21.2 603111 SMARCE1, BAF57, CSS5 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily E, member 1 SMARCE1 6605 ENSG00000073584 {Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant; Coffin-Siris syndrome 5, 616938 (3), Autosomal dominant Smarce1 (MGI:1927347) -chr17 40694245 40703751 17q11.2 17q21.2 607742 KRT24, FLJ20261 Keratin 24 KRT24 192666 ENSG00000167916 Krt24 (MGI:1922956) -chr17 40748020 40755541 17q21.2 17q21.2 616646 KRT25, K25, KRT24IRS1, ARWH3 Keratin 25, type I KRT25 147183 ENSG00000204897 Woolly hair, autosomal recessive 3, 616760 (3), Autosomal recessive Krt25 (MGI:1918060) -chr17 40766237 40772158 17q21.2 17q21.2 616675 KRT26, K25, K25B, K25IRS2 Keratin 26, type I KRT26 353288 ENSG00000186393 Krt26 (MGI:2444913) -chr17 40776807 40782549 17q21.2 17q21.2 616676 KRT27, KRT25C, K25IRS3 Keratin 27, type I KRT27 342574 ENSG00000171446 Krt27 (MGI:1339999) -chr17 40792195 40799958 17q21.2 17q21.2 616677 KRT28, K25D, K25IRS4 Keratin 28, type I KRT28 162605 ENSG00000173908 Krt28 (MGI:1918093) -chr17 40818116 40822613 17q21-q22 17q21.2 148080 KRT10, EHK, BCIE, BIE Keratin 10 KRT10 3858 ENSG00000186395 in cluster of class I keratins Epidermolytic hyperkeratosis, 113800 (3), Autosomal dominant, Autosomal recessive; Ichthyosis with confetti, 609165 (3), Autosomal dominant; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant Krt10 (MGI:96685) -chr17 40861302 40867222 17q12 17q21.2 601687 KRT12, MECD1 Keratin 12 KRT12 3859 ENSG00000187242 Meesmann corneal dystrophy 1, 122100 (3), Autosomal dominant Krt12 (MGI:96687) -chr17 40875888 40885241 17q12-q21 17q21.2 608218 KRT20, CD20, KRT21 Keratin 20 KRT20 54474 ENSG00000171431 Krt20 (MGI:1914059) -chr17 40922695 40937645 17q21.2 17q21.2 606194 KRT23 Keratin 23 KRT23 25984 ENSG00000108244 Krt23 (MGI:2148866) -chr17 40958416 40966947 17q21.2 17q21.2 616678 KRT39 Keratin 38, type I KRT39 390792 ENSG00000196859 Krt39 (MGI:3588208) -chr17 40977714 40987134 17q21.2 17q21.2 616679 KRT40, KA36 Keratin 40, type I KRT40 125115 ENSG00000204889 Krt40 (MGI:3629968) -chr17 41026025 41027207 17q12-q21 17q21.2 608822 KRTAP-15, KAP1.5 Keratin-associated protein 1-5 KRTAP1-5 83895 ENSG00000221852 Krtap1-3,Krtap1-4,Krtap9-3 (MGI:1922836,MGI:3651229,MGI:3650443) -chr17 41029350 41030194 17q12-q21 17q21.2 608821 KRTAP1-4, KAP1.4 Keratin-associated protein 1-4 KRTAP1-4 728255 ENSG00000204887 -chr17 41033883 41034873 17q12-q21 17q21.2 608820 KRTAP1-3, KAP1.3, KAP1.2, KAP1.9 Keratin-associated protein 1-3 KRTAP1-3 81850 ENSG00000221880 Krtap1-3,Krtap1-5,Krtap1-4,Krtap9-3 (MGI:1916914,MGI:1922836,MGI:3651229,MGI:3650443) -chr17 41040540 41041449 17q12-q21 17q21.2 608819 KRTAP1-1, KAP1.1, KAP1.7, KAP1.6 Keratin-associated protein 1-1 KRTAP1-1 81851 ENSG00000188581 Krtap1-3,Krtap1-4 (MGI:3651229,MGI:3650443) -chr17 41345703 41350827 17q12-q21 17q21.2 602761 KRT33A, KRTHA3A, HA3I Keratin 33A KRT33A 3883 ENSG00000006059 Krt33b,Krt33a (MGI:1919138,MGI:1309991) -chr17 41363497 41369812 17q12-q21 17q21.2 602762 KRT33B, KRTHA3A, HA3II Keratin 33B KRT33B 3884 ENSG00000131738 Krt33b (MGI:1309991) -chr17 41377664 41383815 17q12-q21 17q21.2 602763 KRT34, KRTHA4, HA4 Keratin 34 KRT34 3885 ENSG00000131737 Krt34 (MGI:1309994) -chr17 41393720 41397607 17q12-q21 17q21.2 601077 KRT31, KRTHA1, HA1 Keratin 31 KRT31 3881 ENSG00000094796 Krt31 (MGI:1309993) -chr17 41420546 41424584 17q12-q21 17q21.2 604541 KRT37, KRTHA7, HA7 Keratin 37 KRT37 8688 ENSG00000108417 -chr17 41436153 41440982 17q12-q21 17q21.2 604542 KRT38, KRTHA8, HA8 Keratin 38 KRT38 8687 ENSG00000171360 -chr17 41459512 41469251 17q12-q21 17q21.2 602760 KRT32, KRTHA2, HA2 Keratin 32 KRT32 3882 ENSG00000108759 Krt32 (MGI:1309995) -chr17 41476709 41481150 17q12-q21 17q21.2 602764 KRT35, KRTHA5 Keratin 35 KRT35 3886 ENSG00000197079 Krt35 (MGI:1858899) -chr17 41486135 41489909 17q12-q21 17q21.2 604540 KRT36, KRTHA6, HA6 Keratin 36 KRT36 8689 ENSG00000126337 Krt36 (MGI:109364) -chr17 41500980 41505611 17q21.2 17q21.2 148065 KRT13, WSN2 Keratin 13 KRT13 3860 ENSG00000171401 in same PFGE fragment as KRT10, KRT15 White sponge nevus 2, 615785 (3), Autosomal dominant Krt13 (MGI:101925) -chr17 41513744 41521923 17q21-q22 17q21.2 148030 KRT15 Keratin 15 KRT15 3866 ENSG00000171346 tightly linked to Hox-2 in mouse Krt15 (MGI:96689) -chr17 41523616 41528307 17q21-q22 17q21.2 148020 KRT19 Keratin 19 KRT19 3880 ENSG00000171345 probably 17q21-q22 Krt19 (MGI:96693) -chr17 41565835 41572058 17q12-q21 17q21.2 607606 KRT9, EPPK Keratin 9 KRT9 3857 ENSG00000171403 Palmoplantar keratoderma, epidermolytic, 144200 (3), Autosomal dominant Krt9 (MGI:96696) -chr17 41582278 41586894 17q12-q21 17q21.2 148066 KRT14 Keratin 14 KRT14 3861 ENSG00000186847 Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant; Dermatopathia pigmentosa reticularis, 125595 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant Krt14 (MGI:96688) -chr17 41609777 41612766 17q12-q21 17q21.2 148067 KRT16, FNEPPK, PC1 Keratin 16 KRT16 3868 ENSG00000186832 probably 17q21-q22 Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3), Autosomal dominant; Pachyonychia congenita 1, 167200 (3), Autosomal dominant Krt16 (MGI:96690) -chr17 41619441 41624574 17q12-q21 17q21.2 148069 KRT17, PC2, PCHC1 Keratin 17 KRT17 3872 ENSG00000128422 ~5' to KRT16; probably 17q21-q22 Steatocystoma multiplex, 184500 (3), Autosomal dominant; Pachyonychia congenita 2, 167210 (3), Autosomal dominant Krt17 (MGI:96691) -chr17 41712330 41715968 17q21 17q21.2 137250 GAST, GAS Gastrin GAST 2520 ENSG00000184502 Gast (MGI:104768) -chr17 41717738 41734645 17q21.2-q21.3 17q21.2 600947 HAP1, HLP, HAP2 Huntingtin-associated protein 1 (neuroan 1) HAP1 9001 ENSG00000173805 Hap1 (MGI:1261831) -chr17 41754607 41786710 17q21 17q21.2 173325 JUP, DP3, PDGB, ARVD12 Junction plakoglobin JUP 3728 ENSG00000173801 mutation identified in 1 ARVD12 family Naxos disease, 601214 (3), Autosomal recessive; ?Arrhythmogenic right ventricular dysplasia 12, 611528 (3), Autosomal dominant Jup (MGI:96650) -chr17 41801951 41812709 17q21.2 17q21.2 617419 P3H4, SC65, LEPREL4 Proyly 3-hydroxylase 4 P3H4 10609 ENSG00000141696 P3h4 (MGI:1913430) -chr17 41812937 41823214 17q21.2 17q21.2 607063 FKBP10, FKBP65, OI11, BRKS1 FK506-binding protein 10 FKBP10 60681 ENSG00000141756 Osteogenesis imperfecta, type XI, 610968 (3), Autosomal recessive; Bruck syndrome 1, 259450 (3), Autosomal recessive Fkbp10 (MGI:104769) -chr17 41835684 41848383 17q21.2 17q21.2 608778 KLHL10, SPGF11 Kelch-like 10 KLHL10 317719 ENSG00000161594 Spermatogenic failure 11, 615081 (3), Autosomal dominant Klhl10 (MGI:2181067) -chr17 41848513 41865422 17q21.2 17q21.2 619078 KLHL11 Kelch-like family, member 11 KLHL11 55175 ENSG00000178502 Klhl11 (MGI:2388648) -chr17 41866915 41930541 17q21.1 17q21.2 108728 ACLY ATP citrate lyase ACLY 47 ENSG00000131473 Acly (MGI:103251) -chr17 41930616 41966502 17q21.2 17q21.2 617095 TTC25, CILD35 Tetratricopeptide repeat domain-containing protein 25 ODAD4 83538 ENSG00000204815 Ciliary dyskinesia, primary, 35, 617092 (3), Autosomal recessive Odad4 (MGI:1921657) -chr17 41966794 41977739 17q21 17q21.2 123830 CNP, CNP1, HLD20 2', 3' cyclic nucleotide 3' phosphohydrolase CNP 1267 ENSG00000173786 mutation identified in 1 HLD20 family ?Leukodystrophy, hypomyelinating, 20, 619071 (3), Autosomal recessive Cnp (MGI:88437) -chr17 41976426 42021370 17q11-q23 17q21.2 601964 DANJC7, TTC2, TPR2 DnaJ, E. coli, homolog of, subfamily C, member 7 (tetratricopeptide repeat domain 2) DNAJC7 7266 ENSG00000168259 Dnajc7 (MGI:1928373) -chr17 42017575 42025640 17q21.1 17q21.2 604497 NKIRAS2, KBRAS2 NFKB inhibitor-interacting Ras-like protein 2 NKIRAS2 28511 ENSG00000168256 Nkiras2 (MGI:1919216) -chr17 42101403 42112720 17q21.2 17q21.2 608588 DHX58, LGP2, D11LGP2 DExH-box helicase 58 DHX58 79132 ENSG00000108771 Dhx58 (MGI:1931560) -chr17 42113110 42121366 17q21 17q21.2 602301 KAT2A, GCN5L2, GCN5 K(lysine) acetyltransferase 2A KAT2A 2648 ENSG00000108773 Kat2a (MGI:1343101) -chr17 42122803 42123351 17q21.3 17q21.2 608344 HSPB9 Heat-shock 27kD protein 9 HSPB9 94086 ENSG00000260325 Hspb9 (MGI:1922732) -chr17 42124978 42154988 17q21.2 17q21.2 604037 RAB5C, RABL Ras-associated protein RAB5c RAB5C 5878 ENSG00000108774 Rab5c (MGI:105306) -chr17 42156890 42181274 17q21.2 17q21.2 604528 KCNH4, BEC2 Potassium channel, voltage-gated, subfamily H, member 4 KCNH4 23415 ENSG00000089558 Kcnh4 (MGI:2156184) -chr17 42184059 42185451 17q21 17q21.2 602358 HCRT, OX, NRCLP1 Hypocretin HCRT 3060 ENSG00000161610 mutation identified in 1 NRCLP1 patient ?Narcolepsy 1, 161400 (3), Autosomal dominant Hcrt (MGI:1202306) -chr17 42189086 42194493 17q21.2 17q21.2 608587 GHDC, LGP1 GH3 domain-containing protein GHDC 84514 ENSG00000167925 Ghdc (MGI:1931556) -chr17 42199176 42288436 17q11.2 17q21.2 604260 STAT5B, GHISID2 Signal transducer and activator of transcription 5B STAT5B 6777 ENSG00000173757 fused with RARA in PML Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, 245590 (3), Autosomal recessive; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, 618985 (3), Autosomal dominant; Leukemia, acute promyelocytic, somatic, 102578 (3) Stat5b (MGI:103035) -chr17 42287546 42311942 17q21.2 17q21.2 601511 STAT5A, STAT5, MGF Signal transducer and activator of transcription 5a STAT5A 6776 ENSG00000126561 Stat5a (MGI:103036) -chr17 42313323 42388501 17q21 17q21.2 102582 STAT3, APRF, HIES, ADMIO1 Signal transducer and activator of transcription-3 (acute-phase response factor) STAT3 6774 ENSG00000168610 Hyper-IgE recurrent infection syndrome, 147060 (3), Autosomal dominant; Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3), Autosomal dominant Stat3 (MGI:103038) -chr17 42402448 42423268 17q21 17q21.2 603198 CAVIN1, PTRF Caveolae-associated protein 1 CAVIN1 284119 ENSG00000177469 Lipodystrophy, congenital generalized, type 4, 613327 (3), Autosomal recessive Cavin1 (MGI:1277968) -chr17 42458873 42522578 17q21 17q21.2 192130 ATP6V0A1, ATP6N1A, VPP1 ATPase, H+ transporting, V0 subunit A1 ATP6V0A1 535 ENSG00000033627 Atp6v0a1 (MGI:103286) -chr17 42534237 42544448 17q21 17q21.2 609701 NAGLU, MPS3B, CMT2V N-acetylglucosaminidase, alpha- NAGLU 4669 ENSG00000108784 mutation identified in 1 CMT2V family ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3), Autosomal dominant; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3), Autosomal recessive Naglu (MGI:1351641) -chr17 42552922 42555213 17q21.2 17q21.2 109684 HSD17B1, EDH17B2 Estradiol 17-beta-dehydrogenase-1 HSD17B1 3292 ENSG00000108786 Hsd17b1 (MGI:105077) -chr17 42562147 42566276 17q12-q21 17q21.2 609855 COASY, NBIA6, PCH12 Coenzyme A synthase COASY 80347 ENSG00000068120 Pontocerebellar hypoplasia, type 12, 618266 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 6, 615643 (3), Autosomal recessive Coasy (MGI:1918993) -chr17 42567099 42573202 17q21.1 17q21.2 602976 MLX, TCFL4 MAX-like protein X MLX 6945 ENSG00000108788 Mlx (MGI:108398) -chr17 42572309 42577830 17q21.2 17q21.2 608665 PSMC3IP, TBPIP, GT198, HOP2, ODG3 PSMC3-interacting protein PSMC3IP 29893 ENSG00000131470 Ovarian dysgenesis 3, 614324 (3), Autosomal recessive Psmc3ip (MGI:1098610) -chr17 42579507 42609426 17q21.2 17q21.2 616498 FAM134C Family with sequence similarity 134, member C RETREG3 162427 ENSG00000141699 Retreg3 (MGI:1915248) -chr17 42609389 42615237 17q21 17q21.2 191135 TUBG1, CDCBM4 Tubulin, gamma 1 TUBG1 7283 ENSG00000131462 Cortical dysplasia, complex, with other brain malformations 4, 615412 (3), Autosomal dominant Tubg1 (MGI:101834) -chr17 42659283 42667005 17q21 17q21.2 605785 TUBG2 Tubulin, gamma 2 TUBG2 27175 ENSG00000037042 pseudogene on chr. 7 Tubg2 (MGI:2144208) -chr17 42678888 42681842 17q21.2 17q21.2 600240 CCR10, GPR2 Chemokine (C-C) receptor 10 CCR10 2826 ENSG00000184451 Ccr10 (MGI:1096320) -chr17 42679766 42699992 17q21 17q21.2 602346 CNTNAP1, CASPR, P190, CHN3 Contactin-associated protein 1 CNTNAP1 8506 ENSG00000108797 Lethal congenital contracture syndrome 7, 616286 (3), Autosomal recessive; Hypomyelinating neuropathy, congenital, 3, 618186 (3), Autosomal recessive Cntnap1 (MGI:1858201) -chr17 42700274 42745077 17q21.1-q21.3 17q21.2 601674 EZH1 Enhancer of zeste, Drosophila, homolog of, 1 EZH1 2145 ENSG00000108799 Ezh1 (MGI:1097695) -chr17 42761226 42763040 17q12-q21.1 17q21.2 605154 RAMP2 Receptor activity-modifying protein 2 RAMP2 10266 ENSG00000131477 Ramp2 (MGI:1859650) -chr17 42773448 42779598 17q21.3 17q21.2 610907 VPS25, FAP20 Vacuolar protein sorting 25 homolog VPS25 84313 ENSG00000131475 Vps25 (MGI:106354) -chr17 42779700 42797065 17q21-q22 17q21.2 601844 WNK4, PRKWNK4, PHA2B WNK lysine deficient protein kinase 4 WNK4 65266 ENSG00000126562 Pseudohypoaldosteronism, type IIB, 614491 (3), Autosomal dominant Wnk4 (MGI:1917097) -chr17 42797624 42798703 17q21.31 17q21.2 614775 COA3, CCDC56, MC4DN14 Cytochrome c oxidase assembly factor 3 COA3 28958 ENSG00000183978 mutation identified in 1 MC4DN14 patient ?Mitochondrial complex IV deficiency, nuclear type 14, 619058 (3), Autosomal recessive Coa3 (MGI:1098757) -chr17 42798748 42811586 17q21.2-q21.31 17q-q 618166 CNTD1, COSA1 Cyclin N-terminal domain-containing protein 1 CNTD1 124817 ENSG00000176563 Cntd1 (MGI:1923965) -chr17 42800000 46800000 17q21.31 613533 DUP17q21.31, C17DUPq21.31 Chromosome 17q21.31 duplication syndrome contiguous gene duplication syndrome Chromosome 17q21.31 duplication syndrome, 613533 (4) -chr17 42800000 59500000 17q21.31-q22 615162 MRT35 Mental retardation, autosomal recessive 35 101409266 between rs4792947 and rs11079258 Mental retardation, autosomal recessive 35, 615162 (2), Autosomal recessive -chr17 42800000 46800000 17q21.31 239100 VBCH Van Buchem disease 52-kb deletion 35 kb downlstream of SOST van Buchem disease, 239100 (4), Autosomal recessive -chr17 42810131 42824281 17q21 17q21.31 604378 BECN1 Beclin 1 BECN1 8678 ENSG00000126581 Becn1 (MGI:1891828) -chr17 42833396 42843759 17q12-q21 17q21.31 605129 PSME3, PA28G Proteasome activator subunit 3 PSME3 10197 ENSG00000131467 Psme3 (MGI:1096366) -chr17 42844579 42850706 17q21 17q21.31 602268 AOC2, RAO Amine oxidase, copper-containing, 2 AOC2 314 ENSG00000131480 Aoc2 (MGI:2668431) -chr17 42851181 42858129 17q21 17q21.31 603735 AOC3, HPAO, VAP1 Amine oxidase, copper-containing 3 AOC3 8639 ENSG00000131471 Aoc3 (MGI:1306797) -chr17 42900798 42914437 17q21 17q21.31 613742 G6PC, G6PT Glucose-6-phosphatase, catalytic G6PC1 2538 ENSG00000131482 Glycogen storage disease Ia, 232200 (3), Autosomal recessive G6pc (MGI:95607) -chr17 42950525 42964453 17q21.31 17q21.31 613212 AARSD1 Alanyl-tRNA synthetase domain-containing 1 AARSD1 80755 ENSG00000266967 Ptges3l,Aarsd1 (MGI:1916934,MGI:1916146) -chr17 42980515 42995141 17q21.31 17q21.31 619250 RUNDC1, RUND1 RUN domain-containing protein 1 RUNDC1 146923 ENSG00000198863 Rundc1 (MGI:2144506) -chr17 42998272 43002958 17q21.1-q21.2 17q21.31 607526 RPL27, DBA16 Ribosomal protein L27 RPL27 6155 ENSG00000131469 mutation identified in 1 DBA16 patient ?Diamond-Blackfan anemia 16, 617408 (3), Autosomal dominant Rpl27 (MGI:98036) -chr17 43006783 43014458 17q21 17q21.31 600735 IFI35 Interferon-induced protein-35 IFI35 3430 ENSG00000068079 Ifi35 (MGI:1917360) -chr17 43014606 43022384 17q21 17q21.31 604631 VAT1 Vesicle amine transport protein 1 VAT1 10493 ENSG00000108828 Vat1 (MGI:1349450) -chr17 43025230 43032040 17q21 17q21.31 601555 RND2, ARHN, RHO7 Ras homolog gene family, member N (GTP-binding protein Rho7) RND2 8153 ENSG00000108830 Rnd2 (MGI:1338755) -chr17 43044294 43125363 17q21 17q21.31 113705 BRCA1, PSCP, BROVCA1, PNCA4, FANCS Breast cancer-1 gene BRCA1 672 ENSG00000012048 Fanconi anemia, complementation group S, 617883 (3), Autosomal recessive; {Breast-ovarian cancer, familial, 1}, 604370 (3), Autosomal dominant, Multifactorial; {Pancreatic cancer, susceptibility to, 4}, 614320 (3) Brca1 (MGI:104537) -chr17 43125556 43153670 17q21.31 17q21.31 618708 NBR2 Neighbor of BRCA1 gene 2, noncoding NBR2 10230 ENSG00000198496 Head-to-head orientation with BRCA1 -chr17 43170309 43211687 17q21.1 17q21.31 166945 NBR1, M17S2 NBR1 autophagy cargo receptor NBR1 4077 ENSG00000188554 Nbr1 (MGI:108498) -chr17 43233789 43233976 17q21-q22 17q21.31 180690 RNU2-1, RNU2 RNA, U2 small nuclear, 1 RNU2-1 6066 ENSG00000274585 -chr17 43398992 43401136 17q12-q21 17q21.31 600732 ARL4D, ARF4L ADP ribosylation factor-like GTPase 4D ARL4D 379 ENSG00000175906 Arl4d (MGI:1933155) -chr17 43483974 43544798 17q21.31 17q21.31 600396 DHX8, DDX8, HRH1 DEAH-box helicase 8 DHX8 1659 ENSG00000067596 Dhx8 (MGI:1306823) -chr17 43527842 43546339 17q21 17q21.31 600711 ETV4 ETS variant transcription factor 4 ETV4 2118 ENSG00000175832 Etv4 (MGI:99423) -chr17 43640388 43661976 17q21 17q21.31 600147 MEOX1, MOX1, KFS2 Mesenchyme homeo box 1 (Mox1, mouse, homolog of) MEOX1 4222 ENSG00000005102 Klippel-Feil syndrome 2, 214300 (3), Autosomal recessive Meox1 (MGI:103220) -chr17 43753737 43758790 17q12-q21 17q21.31 605740 SOST, VBCH, CDD, SOST1 Sclerostin SOST 50964 ENSG00000167941 Sclerosteosis 1, 269500 (3), Autosomal recessive; Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3), Autosomal dominant Sost (MGI:1921749) -chr17 43766124 43778976 17q21 17q21.31 600183 DUSP3, VHR Dual specificity phosphatase-3 (vaccinia virus phosphatase VH1-related) DUSP3 1845 ENSG00000108861 Dusp3 (MGI:1919599) -chr17 43800810 43833191 17q12-q21 17q21.31 601114 MPP3, DLG3 Membrane protein, palmitoylated-3 (MAGUK p55 subfamily member 3) MPP3 4356 ENSG00000161647 Mpp3 (MGI:1328354) -chr17 43847096 43863638 17q21.31 17q21.31 610520 CD300LG, TREM4, CLM9 CD300 antigen-like family, member G CD300LG 146894 ENSG00000161649 Cd300lg (MGI:1289168) -chr17 43875356 43909710 17q12-q21 17q21.31 600723 MPP2, DLG2 Membrane protein, palmitoylated-2 (MAGUK p55 subfamily member 2) MPP2 4355 ENSG00000108852 Mpp2 (MGI:1858257) -chr17 43940801 43944211 17q12-q21 17q21.31 167780 PPY Pancreatic polypeptide PPY 5539 ENSG00000108849 in rat, close to GH Ppy (MGI:97753) -chr17 43952732 44004444 17q21 17q21.31 600781 PYY Peptide YY PYY 5697 ENSG00000131096 10kb from PPY Pyy (MGI:99924) -chr17 44004545 44009067 17q21.31 17q21.31 608300 NAGS N-acetylglutamate synthase NAGS 162417 ENSG00000161653 N-acetylglutamate synthase deficiency, 237310 (3), Autosomal recessive Nags (MGI:2387600) -chr17 44034327 44067586 17q21.31 17q21.31 611793 LSM12 LSM12, S. cerevisiae, homolog of LSM12 124801 ENSG00000161654 Lsm12 (MGI:1919592) -chr17 44070672 44076343 17q21 17q21.31 611045 G6PC3, UGRP, SCN4 Glucose-6-phosphatase, catalytic, 3 G6PC3 92579 ENSG00000141349 Dursun syndrome, 612541 (3), Autosomal recessive; Neutropenia, severe congenital 4, autosomal recessive, 612541 (3), Autosomal recessive G6pc3 (MGI:1915651) -chr17 44076752 44123650 17q21 17q21.31 605315 HDAC5 Histone deacetylase 5 HDAC5 10014 ENSG00000108840 Hdac5 (MGI:1333784) -chr17 44141929 44162476 17q21.31 17q21.31 618611 HROB, MCM8IP, C17orf53 Homologous recombination factor with OB-fold HROB 78995 ENSG00000125319 Hrob (MGI:2387601) -chr17 44170703 44179083 17q21.31 17q21.31 615056 ASB16 Ankyrin repeat- and SOCS box-containing protein 16 ASB16 92591 ENSG00000161664 Asb16 (MGI:2654437) -chr17 44191804 44199883 17q21.31 17q21.31 619010 ATXN7L3, SGF11 ATNX7-like 3 ATXN7L3 56970 ENSG00000087152 Atxn7l3 (MGI:3036270) -chr17 44205035 44221303 17q21.3 17q21.31 600673 UBTF, UBF, CONDBA Upstream binding transcription factor, RNA polymerase I UBTF 7343 ENSG00000108312 Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3), Autosomal dominant Ubtf (MGI:98512) -chr17 44226962 44230071 17q21-q22 17q21.31 600739 SHC1P2, SHCL1 SHC adaptor protein 1 pseudogene 2 SHC1P2 6466 -chr17 44248389 44268160 17q21-q22 17q21.31 109270 SLC4A1, AE1, EPB3, SPH4, SAO, CHC Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) SLC4A1 6521 ENSG00000004939 [Blood group, Swann], 601550 (3); [Blood group, Wright], 112050 (3); [Malaria, resistance to], 611162 (3); Distal renal tubular acidosis 1, 179800 (3), Autosomal dominant; [Blood group, Waldner], 112010 (3); Spherocytosis, type 4, 612653 (3), Autosomal dominant; [Blood group, Froese], 601551 (3); Distal renal tubular acidosis 4 with hemolytic anemia, 611590 (3), Autosomal recessive; Cryohydrocytosis, 185020 (3), Autosomal dominant; Ovalocytosis, SA type, 166900 (3), Autosomal dominant; [Blood group, Diego], 110500 (3) Slc4a1 (MGI:109393) -chr17 44308558 44318669 17q21.3 17q21.31 605448 RUNDC3A, RPIP8 RUN domain contain 3A RUNDC3A 10900 ENSG00000108309 Rundc3a (MGI:1858752) -chr17 44319626 44324844 17q21.31 17q21.31 610820 SLC25A39, CGI69 Solute carrier family 25, member 39 SLC25A39 51629 ENSG00000013306 Slc25a39 (MGI:1196386) -chr17 44345301 44353105 17q21.32 17q21.31 138945 GRN, CLN11 Granulin GRN 2896 ENSG00000030582 Aphasia, primary progressive, 607485 (3), Autosomal dominant; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3), Autosomal dominant; Ceroid lipofuscinosis, neuronal, 11, 614706 (3), Autosomal recessive Grn (MGI:95832) -chr17 44372180 44389648 17q21.32 17q21.31 607759 ITGA2B, GP2B, CD41B, GT1, BDPLT2, BDPLT16 Integrin, alpha-2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B) ITGA2B 3674 ENSG00000005961 3' to GP3A; BAK platelet antigen Thrombocytopenia, neonatal alloimmune, BAK antigen related (3); Glanzmann thrombasthenia 1, 273800 (3), Autosomal recessive; Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant Itga2b (MGI:96601) -chr17 44395276 44503588 17q21.31 17q21.31 614396 GPATCH8, KIAA0553 G-patch domain-containing protein 8 GPATCH8 23131 ENSG00000186566 Gpatch8 (MGI:1918667) -chr17 44557483 44561261 17q21.1 17q21.31 600667 FZD2, OMOD2 Frizzled class receptor 2 FZD2 2535 ENSG00000180340 Omodysplasia 2, 164745 (3), Autosomal dominant Fzd2 (MGI:1888513) -chr17 44656416 44677085 17q21.31 17q21.31 616934 MEIOC, C17orf104 Meiosis-specific protein with coiled-coil domain MEIOC 284071 ENSG00000180336 Meioc (MGI:2686410) -chr17 44708580 44752731 17q21 17q21.31 611661 DBF4B, DRF1, ASKL1 DBF4, S. cerevisiae, homolog of, B DBF4B 80174 ENSG00000161692 -chr17 44758987 44781845 17q21.3 17q21.31 155120 ADAM11, MDC ADAM metallopeptidase domain 11 ADAM11 4185 ENSG00000073670 Adam11 (MGI:1098667) -chr17 44794987 44831363 17q21.31 17q21.31 608655 GJC1, GJA7, CX45 Gap junction protein, gamma-1 GJC1 10052 ENSG00000182963 Gjc1 (MGI:95718) -chr17 44849947 44899444 17q21.31 17q21.31 603892 EFTUD2, KIAA0031, MFDGA Elongation factor Tu GTP-binding domain-containing 2 EFTUD2 9343 ENSG00000108883 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3), Autosomal dominant Eftud2 (MGI:1336880) -chr17 44899728 44905389 17q21.31 17q21.31 614677 CCDC103, SMH, PR46B, CILD17 Coiled-coil domain-containing protein 103 CCDC103 388389 ENSG00000167131 Ciliary dyskinesia, primary, 17, 614679 (3), Autosomal recessive Ccdc103 (MGI:1920543) -chr17 44903158 44915551 17q21 17q21.31 137780 GFAP, ALXDRD Glial fibrillary acidic protein GFAP 2670 ENSG00000131095 Alexander disease, 203450 (3), Autosomal dominant Gfap (MGI:95697) -chr17 44924710 44947772 17q21.31 17q21.31 614570 KIF18B Kinesin family member 18B KIF18B 146909 ENSG00000186185 Kif18b (MGI:2446979) -chr17 44959692 44968302 17q21 17q21.31 611586 C1QL1, CRF, C1QRF Complement component 1, q subcomponent-like 1 C1QL1 10882 ENSG00000131094 C1ql1 (MGI:1344400) -chr17 45061316 45109015 17q21.31 17q21.31 160993 NMT1, NMT N-myristoyltransferase 1 NMT1 4836 ENSG00000136448 Nmt1 (MGI:102579) -chr17 45108958 45132523 17q21.31 17q21.31 608795 PLCD3 Phospholipase C, delta-3 PLCD3 113026 ENSG00000161714 Plcd3 (MGI:107451) -chr17 45148474 45152098 Chr.17 17q21.31 607328 CLP1, HIS1 Cardiac lineage protein 1 HEXIM1 10614 ENSG00000186834 Hexim1 (MGI:2385923) -chr17 45159947 45170039 17q21.32 17q21.31 615695 HEXIM2 Hexamethylene bis acetamide-inducible protein 2 HEXIM2 124790 ENSG00000168517 Hexim2 (MGI:1918309) -chr17 45220267 45247321 17q21 17q21.31 604656 FMNL, C17orf1B Formin-like FMNL1 752 ENSG00000184922 Fmnl1 (MGI:1888994) -chr17 45263118 45317047 17q21 17q21.31 604655 MAP3K14, NIK, HSNIK Mitogen-activated protein kinase kinase kinase-14 MAP3K14 9020 ENSG00000006062 Map3k14 (MGI:1858204) -chr17 45393907 45432869 17q21 17q21.31 610591 ARHGAP27, CAMGAP1 RHO GTPase-activating protein 27 ARHGAP27 201176 ENSG00000159314 Arhgap27 (MGI:1916903) -chr17 45434261 45490774 17q21.3 17q21.31 611466 PLEKHM1, AP162, KIAA0356, OPTB6, OPTA3 Pleckstrin homology domain-containing protein, family M, member 1 PLEKHM1 9842 ENSG00000225190 mutation identified in 1 OPTB6 family ?Osteopetrosis, autosomal recessive 6, 611497 (3), Autosomal recessive; Osteopetrosis, autosomal dominant 3, 618107 (3), Autosomal dominant Plekhm1 (MGI:2443207) -chr17 45784319 45835827 17q12-q22 17q21.31 122561 CRHR1, CRHR Corticotropin releasing hormone receptor 1 CRHR1 1394 ENSG00000120088 Crhr1 (MGI:88498) -chr17 45844880 45847066 17q21.31 17q21.31 608284 IMP5 Intramembrane protease 5 SPPL2C 162540 ENSG00000185294 Sppl2c (MGI:3045264) -chr17 45894537 46028333 17q21.1 17q21.31 157140 MAPT, MTBT1, DDPAC, MSTD Microtubule-associated protein tau MAPT 4137 ENSG00000186868 see 6p21 Supranuclear palsy, progressive, 601104 (3), Autosomal dominant; Supranuclear palsy, progressive atypical, 260540 (3), Autosomal recessive; Dementia, frontotemporal, with or without parkinsonism, 600274 (3), Autosomal dominant; {Parkinson disease, susceptibility to}, 168600 (3), Autosomal dominant, Multifactorial; Pick disease, 172700 (3), Autosomal dominant Mapt (MGI:97180) -chr17 45999249 45999693 17q21.1 17q21.31 607067 STH Saitohin STH 246744 ENSG00000256762 in intron 9 of TAU -chr17 46027334 46225369 17q21.31 17q21.31 612452 KANSL1, KIAA1267, MSL1V1, KDVS KAT8 regulatory NSL complex subunit 1 KANSL1 284058 ENSG00000120071 Koolen-De Vries syndrome, 610443 (3), Autosomal dominant Kansl1 (MGI:1923969) -chr17 46295130 46337793 17q21.31-q21.32 17q21.31 616555 LRRC37A Leucine-rich repeat-containing protein 37A LRRC37A 9884 ENSG00000176681 -chr17 46512709 47049127 17q21.31-q21.32 17q21.31-q21.32 616556 LRRC37A2 Leucine-rich repeat-containing protein 37A2 LRRC37A2 474170 ENSG00000238083 -chr17 46590668 46757463 17q21-q22 17q21.31 601633 NSF, DEE96 N-ethylmaleimide-sensitive factor NSF 4905 ENSG00000073969 Developmental and epileptic encephalopathy 96, 619340 (3), Autosomal dominant Nsf (MGI:104560) -chr17 46762505 46818691 17q21 17q21.31-q21.32 165330 WNT3, INT4, TETAMS Wingless-type MMTV integration site family, member 3 WNT3 7473 ENSG00000108379 mutation identified in 1 TETAMS1 family ?Tetra-amelia syndrome 1, 273395 (3), Autosomal recessive Wnt3 (MGI:98955) -chr17 46833200 46886737 17q21 17q21.32 602864 WNT15 Wingless-type MMTV integration site family, member 15 WNT9B 7484 ENSG00000158955 Wnt9b (MGI:1197020) -chr17 46923107 46975518 17q21 17q21.32 604027 GOSR2, GS27, EPM6 Golgi snap receptor complex member 2 GOSR2 9570 ENSG00000108433 Epilepsy, progressive myoclonic 6, 614018 (3), Autosomal recessive Gosr2 (MGI:1927204) -chr17 47117702 47189294 17q12-q23.2 17q21.32 116946 CDC27 Cell division cycle 27 CDC27 996 ENSG00000004897 between ERBB2 and PRKCA Cdc27 (MGI:102685) -chr17 47209016 47227649 17q21.32 17q21.32 160770 MYL4 Myosin, light polypeptide-4, alkali, atrial, embryonic MYL4 4635 ENSG00000198336 mutation identified in 1 ATFB18 family ?Atrial fibrillation, familial, 18, 617280 (3), Autosomal dominant Myl4 (MGI:97267) -chr17 47253826 47313742 17q21.32 17q21.32 173470 ITGB3, GP3A, GT2, BDPLT24 Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61) ITGB3 3690 ENSG00000259207 in same 260kb fragment as GP2B; PL(A) platelet antigen Bleeding disorder, platelet-type, 24, autosomal dominant, 619271 (3); Thrombocytopenia, neonatal alloimmune (3); Purpura, posttransfusion (3); {Myocardial infarction, susceptibility to}, 608446 (3); Glanzmann thrombasthenia 2, 619267 (3) Itgb3 (MGI:96612) -chr17 47522932 47623275 17q21 17q21.32 606793 NPEPPS, PSA, MP100 Aminopeptidase, puromycin-sensitive NPEPPS 9520 ENSG00000141279 Npepps (MGI:1101358) -chr17 47649918 47685504 17q21 17q21.32 602738 KPNB1 Karyopherin beta-1 KPNB1 3837 ENSG00000108424 Kpnb1 (MGI:107532) -chr17 47694062 47712062 17q21.32 17q21.32 608476 TBKBP1, PROSAPIP2, KIAA0775 TBK1-binding protein 1 TBKBP1 9755 ENSG00000198933 Tbkbp1 (MGI:1920424) -chr17 47733235 47746121 17q21.3 17q21.32 604895 TBX21, TBET T-box 21 TBX21 30009 ENSG00000073861 Asthma and nasal polyps, 208550 (3), Autosomal recessive; {Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive Tbx21 (MGI:1888984) -chr17 47807366 47821821 17q21.2 17q21.32 606735 OSBPL7, ORP7 Oxysterol-binding protein-like protein 7 OSBPL7 114881 ENSG00000006025 Osbpl7 (MGI:1918490) -chr17 47823271 47831540 17q21.3 17q21.32 611825 MRPL10, MRPL8 Mitochondrial ribosomal protein L10 MRPL10 124995 ENSG00000159111 Mrpl10 (MGI:1333801) -chr17 47837690 47841291 17q21.3 17q21.32 614966 SCRN2, SES2 Secernin 2 SCRN2 90507 ENSG00000141295 Scrn2 (MGI:1343092) -chr17 47896031 47932270 17q21.32 17q21.32 601801 SP2 Transcription factor Sp2 SP2 6668 ENSG00000167182 Sp2 (MGI:1926162) -chr17 47941523 47949307 17q21.32 17q21.32 603287 PNPO Pyridoxamine 5'-phosphate oxidase PNPO 55163 ENSG00000108439 Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3), Autosomal recessive Pnpo (MGI:2144151) -chr17 47967903 47981780 17q21.31 17q21.32 608202 CDK5RAP3 CDK5 regulatory subunit-associated protein 3 CDK5RAP3 80279 ENSG00000108465 Cdk5rap3 (MGI:1933126) -chr17 48026166 48048085 17q21.32 17q21.32 615526 COPZ2 Coatomer protein complex, subunit zeta-2 COPZ2 51226 ENSG00000005243 Copz2 (MGI:1929008) -chr17 48037160 48037246 17q21.32 17q21.32 613788 MIR152, MIRN152 Micro RNA 152 MIR152 406943 ENSG00000207947 Mir152 (MGI:2676837) -chr17 48048358 48061544 17q21.3 17q21.32 163260 NFE2L1, NRF1 Nuclear factor, erythroid-derived 2-like 1 NFE2L1 4779 ENSG00000082641 Nfe2l1 (MGI:99421) -chr17 48070058 48101477 17q21.32 17q21.32 604511 CBX1 Chromobox 1 CBX1 10951 ENSG00000108468 Cbx1 (MGI:105369) -chr17 48107532 48123600 17q21.32 17q21.32 614906 SNX11 Sorting nexin 11 SNX11 29916 ENSG00000002919 Snx11 (MGI:1921729) -chr17 48133437 48430249 17q21.32 17q21.32 604969 SKAP1, SCAP1, SKAP55 SRC kinase-associated phosphoprotein 1, 55kD SKAP1 8631 ENSG00000141293 Skap1 (MGI:1925723) -chr17 48528525 48531010 17q21-q22 17q21.32 142968 HOXB1, HOX2I, HCFP3 Homeo box-B1 HOXB1 3211 ENSG00000120094 Facial paresis, hereditary congenital, 3, 614744 (3), Autosomal recessive Hoxb1 (MGI:96182) -chr17 48542654 48545108 17q21-q22 17q21.32 142967 HOXB2, HOX2H Homeo box-B2 HOXB2 3212 ENSG00000173917 Hoxb2 (MGI:96183) -chr17 48544350 48551240 17q21.32 17q21.32 618066 HOXBAS1, HOXB3OS Homeobox B cluster antisense RNA 1, noncoding HOXB-AS1 100874362 ENSG00000230148 -chr17 48548869 48590240 17q21-q22 17q21.32 142966 HOXB3, HOX2G Homeo box-B3 HOXB3 3213 ENSG00000120093 Hoxb3 (MGI:96184) -chr17 48575506 48578349 17q21-q22 17q21.32 142965 HOXB4, HOX2F Homeo box-B4 HOXB4 3214 ENSG00000182742 Hoxb4 (MGI:96185) -chr17 48579837 48579946 17q21 17q21.32 610173 MIR10A Micro RNA 10A MIR10A 406902 ENSG00000284038 Mir10a (MGI:3619064) -chr17 48591256 48593778 17q21-q22 17q21.32 142960 HOXB5, HOX2A Homeo box-B5 HOXB5 3215 ENSG00000120075 Hoxb5 (MGI:96186) -chr17 48595735 48604985 17q21-q22 17q21.32 142961 HOXB6, HOX2B Homeo box-B6 HOXB6 3216 ENSG00000108511 Hoxb6 (MGI:96187) -chr17 48607231 48611016 17q21-q22 17q21.32 142962 HOXB7, HOX2C Homeo box-B7 HOXB7 3217 ENSG00000260027 Hoxb7 (MGI:96188) -chr17 48612345 48619530 17q21-q22 17q21.32 142963 HOXB8, HOX2D Homeo box-B8 HOXB8 3218 ENSG00000120068 Hoxb8 (MGI:96189) -chr17 48621155 48626357 17q21-q22 17q21.32 142964 HOXB9, HOX2E Homeo box-B9 HOXB9 3219 ENSG00000170689 Hoxb9 (MGI:96190) -chr17 48632489 48632558 17q21-q22 17q21.32 608632 MIR196A1, MIRN196A1 Micro RNA 196A1 MIR196A1 406972 ENSG00000210741 Mir196a-1 (MGI:2676860) -chr17 48720801 48724757 17q21.3 17q21.32 610787 PRAC2, HOXBAS5 PRAC2 small nuclear protein PRAC2 360205 ENSG00000229637 -chr17 48721718 48722517 17q21.3 17q21.32 609819 PRAC1 PRAC1 small nuclear protein PRAC1 84366 ENSG00000159182 -chr17 48724762 48728749 17q21.2 17q21.32 604607 HOXB13, HPC9 Homeo box B13 HOXB13 10481 ENSG00000159184 {Prostate cancer, hereditary, 9}, 610997 (3) Hoxb13 (MGI:107730) -chr17 48762233 48817246 17q21.32 17q21.32 610849 TTLL6 Tubulin tyrosine ligase-like 6 TTLL6 284076 ENSG00000170703 Ttll6 (MGI:2683461) -chr17 48831034 48865244 17q21.32 17q21.32 604587 CALCOCO2, NDP52 Calcium binding and coiled-coil domain protein 2 CALCOCO2 10241 ENSG00000136436 Calcoco2 (MGI:1343177) -chr17 48892786 48895870 Chr.17 17q21.32 603192 ATP5G1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C, isoform 1 ATP5MC1 516 ENSG00000159199 Atp5g1 (MGI:107653) -chr17 48908406 48929055 17q21.32 17q21.32 611362 UBE2Z, USE1 Ubiquitin-conjugating enzyme E2Z UBE2Z 65264 ENSG00000159202 Ube2z (MGI:1343160) -chr17 48929315 48944841 17q21.32 17q21.32 610904 SNF8, VPS22, EAP30 SNF8 subunit of ESCRIT-II SNF8 11267 ENSG00000159210 Snf8 (MGI:1343161) -chr17 48958553 48968595 17q21.3-q22 17q21.32 137240 GIP Gastric inhibitory polypeptide GIP 2695 ENSG00000159224 Gip (MGI:107504) -chr17 48997384 49056144 17q21.3 17q21.32 608288 IGF2BP1, IMP1, CRDBP, ZBP1 Insulin-like growth factor 2 mRNA-binding protein 1 IGF2BP1 10642 ENSG00000159217 Igf2bp1 (MGI:1890357) -chr17 49120346 49176839 17q21.2 17q21.32 111730 B4GALGT2, GALGT2, SD Beta-1,4-N-acetyl-galactosaminyl transferase 2 B4GALNT2 124872 ENSG00000167080 B4galnt2 (MGI:1342058) -chr17 49192527 49192598 17q21.32 17q21.32 189923 TRQ-TTG1-1, TRNAQ2, TRQ2 tRNA glutamine (anticodon TTG) 1-1 TRQ-TTG1-1 7229 -chr17 49206233 49210573 17q21 17q21.32 139391 GNGT2 Guanine nucleotide-binding protein, gamma-transducing activity polypeptide 2 GNGT2 2793 ENSG00000167083 Gngt2 (MGI:893584) -chr17 49210581 49223224 17q21.3 17q21.32 606363 NESH NESH protein ABI3 51225 ENSG00000108798 Abi3 (MGI:1913860) -chr17 49289205 49362472 17q21.32 17q21.32-q21.33 613907 ZNF652, KIAA0924 Zinc finger protein 652 ZNF652 22834 ENSG00000198740 Zfp652 (MGI:2442221) -chr17 49300000 52100000 17q21 611403 ASRT6 Asthma-related traits, susceptibility to, 6 100188840 strongly associated with rs7216389 {Asthma-related traits, susceptibility to, 6}, 611403 (2) -chr17 49300000 52100000 17q21 610676 AUTS7 Autism, susceptibility to, 7 100188816 max lod at D17S2180 {Autism susceptibility 7}, 610676 (2) -chr17 49300000 52100000 17q21.3 603279 ERDA1 Expanded repeat domain, CAG/CTG, 1 ERDA1 9030 no apparent pathology -chr17 49300000 59500000 17q21-q22 610997 HPC9 Prostate cancer, hereditary, 9 max LOD at D17S1820 {Prostate cancer, hereditary, 9}, 610997 (2) -chr17 49300000 59500000 17q21-q22 608474 MYP5 Myopia 5 404682 between D17S787 and D17S1811 Myopia 5, 608474 (2), Autosomal dominant -chr17 49300000 59500000 17q21-q22 168860 PTLAH, FPAH Patella aplasia or hypoplasia 8830 Patella aplasia or hypoplasia, 168860 (2), Autosomal dominant -chr17 49404051 49414881 17q21 17q21.33 176705 PHB Prohibitin PHB 5245 ENSG00000167085 {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant Phb (MGI:97572) -chr17 49495292 49515007 17q21-q22 17q21.33 162010 NGFR, TNFRSF16 Nerve growth factor receptor NGFR 4804 ENSG00000064300 distal to APL breakpoint, q21; < 0.5mb from HOX2 Ngfr (MGI:97323) -chr17 49575870 49583826 17q21.33 17q21.33 604636 NXPH3, NPH3 Neuroexophilin 3 NXPH3 11248 ENSG00000182575 Nxph3 (MGI:1336188) -chr17 49598883 49678162 3q21.33 17q21.33 602650 SPOP, NSDVS1, NSDVS2 Speckle-type POZ protein SPOP 8405 ENSG00000121067 Nabais Sa-de Vries syndrome, type 1, 618828 (3), Autosomal dominant; Nabais Sa-de Vries syndrome, type 2, 618829 (3), Autosomal dominant Tdpoz9,Tdpoz3,Tdpoz4,Spopfm2,Spop,Tdpoz1 (MGI:3027904,MGI:3702970,MGI:3702972,MGI:1343085,MGI:2449436,MGI:3027903) -chr17 49700942 49708172 17q21.33 17q21.33 610790 SLC35B1, UGTREL1 Solute carrier family 35, member B1 SLC35B1 10237 ENSG00000121073 Slc35b1 (MGI:1343133) -chr17 49788680 49835025 17q21.32 17q21.33 609880 KAT7, MYST2, HBO1 K(lysine) acetyltransferase 7 KAT7 11143 ENSG00000136504 Kat7 (MGI:2182799) -chr17 49838299 49848068 17q21.3 17q21.33 607833 RAC4, PPTC, HK1 Tachykinin 4 TAC4 255061 ENSG00000176358 Tac4 (MGI:1931130) -chr17 49968969 49974958 17q21.3-q22 17q21.33 601911 DLX4, DLX7, DLX8, OFC15 Distal-less homeo box-4 DLX4 1748 ENSG00000108813 mutation identified in 1 OFC15 family ?Orofacial cleft 15, 616788 (3), Autosomal dominant Dlx4 (MGI:94904) -chr17 49990004 49995223 17q21.3-q22 17q21.33 600525 DLX3, TDO, AI4 Distal-less homeo box-3 DLX3 1747 ENSG00000064195 Trichodontoosseous syndrome, 190320 (3), Autosomal dominant; Amelogenesis imperfecta, type IV, 104510 (3), Autosomal dominant Dlx3 (MGI:94903) -chr17 50056064 50090480 17q21.33 17q21.33 605025 ITGA3, CD49C, GAPB3, ILNEB Integrin, alpha-3 ITGA3 3675 ENSG00000005884 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3), Autosomal recessive Itga3 (MGI:96602) -chr17 50094736 50112151 17q21.33 17q21.33 602525 PDK2 Pyruvate dehydrogenase kinase, isoenzyme 2 PDK2 5164 ENSG00000005882 Pdk2 (MGI:1343087) -chr17 50110039 50130159 17q21.33 17q21.33 619233 SAMD14 Sterile alpha motif domain-containing protein 14 SAMD14 201191 ENSG00000167100 Samd14 (MGI:2384945) -chr17 50133736 50150676 17q21.33 17q21.33 603325 PPP1R9B, SPINO Protein phosphatase 1, regulatory subunit 9B PPP1R9B 84687 ENSG00000108819 Ppp1r9b (MGI:2387581) -chr17 50165516 50175927 17q12-q21.33 17q21.33 600119 SGCA, ADL, DAG2, LGMDR3 Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin) SGCA 6442 ENSG00000108823 Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3), Autosomal recessive Sgca (MGI:894698) -chr17 50171427 50172475 17q21.33 17q21.33 608101 HILS1 Spermatid-specific linker histone H1-like protein H1-9P 373861 -chr17 50184095 50201648 17q21.31-q22 17q21.33 120150 COL1A1, OI1, OI2, OI3, OI4, EDSARTH1, CAFYD Collagen I, alpha-1 polypeptide COL1A1 1277 ENSG00000108821 fused with PDGFB in DFPB Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Caffey disease, 114000 (3), Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3), Autosomal dominant; Osteogenesis imperfecta, type I, 166200 (3), Autosomal dominant; {Bone mineral density variation QTL, osteoporosis}, 166710 (3), Autosomal dominant; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, 619115 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant Col1a1 (MGI:88467) -chr17 50346125 50361184 17q21.3-q22 17q21.33 608125 XYLT2, XT2, SOS Xylosyltransferase 2 XYLT2 64132 ENSG00000015532 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive; Spondyloocular syndrome, 605822 (3), Autosomal recessive Xylt2 (MGI:2444797) -chr17 50367866 50373183 17q21.3-q22 17q21.33 611837 MRPL27 Mitochondrial ribosomal protein L27 MRPL27 51264 ENSG00000108826 Mrpl27 (MGI:2137224) -chr17 50373223 50381482 17q21.3 17q21.33 610885 EME1 Essential meiotic structure-specific endonuclease 1 EME1 146956 ENSG00000154920 Eme1 (MGI:3576783) -chr17 50381237 50397522 17q21.33 17q21.33 614854 LRRC59, p34 Leucine-rich repeat-containing protein 59 LRRC59 55379 ENSG00000108829 Lrrc59 (MGI:2138133) -chr17 50426217 50474844 17q21.33 17q21.33 610465 ACSF2, FLJ20920 Acyl-CoA synthetase family member 2 ACSF2 80221 ENSG00000167107 Acsf2 (MGI:2388287) -chr17 50464491 50469880 17q21.33 17q21.33 602178 CHAD Chondroadherin CHAD 1101 ENSG00000136457 Chad (MGI:1096866) -chr17 50507777 50531501 17q21 17q21.33 609835 MYCBPAP, AMAP1 MYCBP-associated protein MYCBPAP 84073 ENSG00000136449 Mycbpap (MGI:2388726) -chr17 50532734 50543749 Chr.17 17q21.33 607264 EPN3 Epsin 3 EPN3 55040 ENSG00000049283 Epn3 (MGI:1919139) -chr17 50547173 50555851 17q21.33 17q21.33 613939 SPATA20, SSP411 Spermatogenesis-associated protein 20 SPATA20 64847 ENSG00000006282 Spata20 (MGI:2183449) -chr17 50560714 50629624 17q22 17q21.33 604065 CACNA1G, SCA42, SCA42ND Calcium channel, voltage-dependent, T type, alpha-1G subunit CACNA1G 8913 ENSG00000006283 Spinocerebellar ataxia 42, 616795 (3), Autosomal dominant; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3), Autosomal dominant Cacna1g (MGI:1201678) -chr17 50634880 50692252 17q22 17q21.33 604323 ABCC3, CMOAT2, MRP3, MLP2 ATP-binding cassette, sub-family C, member 3 ABCC3 8714 ENSG00000108846 Abcc3 (MGI:1923658) -chr17 50719581 50756218 17q21.3 17q21.33 609434 LUC7L3, CROP, LUC7A LUC7-like 3 pre-mRNA splicing factor LUC7L3 51747 ENSG00000108848 Luc7l3 (MGI:1914934) -chr17 50834583 50842352 17q21.3 17q21.33 610895 WFIKKN2, WFIKKNRP WAP, fillistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 2 WFIKKN2 124857 ENSG00000173714 Wfikkn2 (MGI:2669209) -chr17 50862222 50867977 17q21 17q21.33 605523 TOB1, TOB Transducer of ERBB2, 1 TOB1 10140 ENSG00000141232 Tob1 (MGI:1349721) -chr17 50962173 51120867 17q21.33 17q21.33 605430 SPAG9, SYD1, KIAA0516 Sperm-associated antigen 9 SPAG9 9043 ENSG00000008294 Spag9 (MGI:1918084) -chr17 51153558 51162167 17q21.3 17q21.33 156490 NME1, NM23 NME/NM23 nucleoside diphosphate kinase 1 NME1 4830 ENSG00000239672 Nme1 (MGI:97355) -chr17 51165535 51171743 17q21.3 17q21.33 156491 NME2 NME/NM23 nucleoside diphosphate kinase 2 NME2 4831 ENSG00000243678 Nme2 (MGI:97356) -chr17 51177418 51260510 17q21.33 17q21.33 618705 MBTD1 MBT domain-containing protein 1 MBTD1 54799 ENSG00000011258 Mbtd1 (MGI:2143977) -chr17 51260545 51297932 17q21.33 17q21.33 612816 UTP18 UTP18 small subunit processome component UTP18 51096 ENSG00000011260 Utp18 (MGI:1923402) -chr17 51630312 52160022 17q21.33-q22 17q21-q22 604642 CA10, CARPX Carbonic anhydrase X CA10 56934 ENSG00000154975 Car10 (MGI:1919855) -chr17 52100000 59500000 17q22 151441 BCL5 B-cell CLL/lymphoma-5 603 -chr17 53822926 53825192 17q22 17q22 615142 KIF2B Kinesin family member 2B KIF2B 84643 ENSG00000141200 Kif2b (MGI:1920720) -chr17 54900806 54961966 17q22 17q22 604701 TOM1L1 Target of MYB1-like 1 membrane trafficking protein TOM1L1 10040 ENSG00000141198 Tom1l1 (MGI:1919193) -chr17 54951897 54968784 17q22 17q22 603648 COX11 Cytochrome c oxidase, subunit 11 COX11 1353 ENSG00000166260 pseudogene on 6p23-p22 Cox11 (MGI:1917052) -chr17 54968727 55173631 17q22 17q22 610415 STXBP4, SYNIP Syntaxin-binding protein 4 STXBP4 252983 ENSG00000166263 Stxbp4 (MGI:1342296) -chr17 55264959 55325186 17q22 17q22 142385 HLF Hepatic leukemia factor HLF 3131 ENSG00000108924 Hlf (MGI:96108) -chr17 55392616 55421885 17q22 17q22 604467 MMD, MMD1, PAQR11 Monocyte-to-macrophage differentiation-associated protein MMD 23531 ENSG00000108960 Mmd (MGI:1914718) -chr17 55719626 55732080 17q22 17q22 616334 TMEM100 Transmembrane protein 100 TMEM100 55273 ENSG00000166292 Tmem100 (MGI:1915138) -chr17 55750978 55845000 17q21-q22 17q22 606055 PCTP Phosphatidylcholine transfer protein PCTP 58488 ENSG00000141179 Pctp (MGI:107375) -chr17 56593698 56595610 17q22 17q22 602991 NOG, SYM1, SYNS1A Noggin, mouse, homolog of NOG 9241 ENSG00000183691 Symphalangism, proximal, 1A, 185800 (3), Autosomal dominant; Brachydactyly, type B2, 611377 (3), Autosomal dominant; Stapes ankylosis with broad thumbs and toes, 184460 (3), Autosomal dominant; Tarsal-carpal coalition syndrome, 186570 (3), Autosomal dominant; Multiple synostoses syndrome 1, 186500 (3), Autosomal dominant Nog (MGI:104327) -chr17 56834130 56869566 17q22 17q22 601440 DGKE, NPHS7, AHUS7 Diacylglycerol kinase, epsilon, 64-kD DGKE 8526 ENSG00000153933 {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3), Autosomal recessive; Nephrotic syndrome, type 7, 615008 (3), Autosomal recessive Dgke (MGI:1889276) -chr17 56887908 56914048 17q23.1 17q22 600453 TRIM25, ZNF147, EFP Tripartite motif-containing 25 TRIM25 7706 ENSG00000121060 300kb from MPO Trim25 (MGI:102749) -chr17 56938198 56961049 17q22-q23 17q22 600272 COIL, CLN80 Coilin p80 COIL 8161 ENSG00000121058 Coil (MGI:104842) -chr17 57085245 57121343 Chr.17 17q22 602449 AKAP1, AKAP149, SAKAP84 A-kinase anchor protein 1, 149kD AKAP1 8165 ENSG00000121057 Akap1 (MGI:104729) -chr17 57255850 57684688 17q22 17q22 607897 MSI2 Musashi RNA binding protein 2 MSI2 124540 ENSG00000153944 Msi2 (MGI:1923876) -chr17 57834780 57850043 17q22-q23 17q22 611985 MRPS23, COXPD46 Mitochondrial ribosomal protein S23 MRPS23 51649 ENSG00000181610 mutation identified in 1 COXPD46 patient ?Combined oxidative phosphorylation defiency 46, 618952 (3), Autosomal recessive Mrps23 (MGI:1928138) -chr17 57971546 57988253 17q22 17q22 606747 VEZF1, ZNF161 Vascular endothelial zinc finger 1 VEZF1 7716 ENSG00000136451 Vezf1 (MGI:1313291) -chr17 58000918 58007272 17q21.3-q22 17q22 600812 SRSF1, SFRS1, ASF, SF2, SRp30a Splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate splicing factor) SRSF1 6426 ENSG00000136450 Srsf1 (MGI:98283) -chr17 58083418 58095541 17q23.2 17q22 608942 DYNLL2, DLC2 Dynein, light chain, LC8-type 2 DYNLL2 140735 ENSG00000264364 Dynll2 (MGI:1915347) -chr17 58192725 58205173 17q23.1 17q22 131399 EPX, EPXD Eosinophil peroxidase EPX 8288 ENSG00000121053 [Eosinophil peroxidase deficiency], 261500 (3), Autosomal recessive Epx (MGI:107569) -chr17 58205435 58219604 17q23 17q22 609883 MKS1, MKS, BBS13, JBTS28 MKS1 transition zone complex subunit 1 MKS1 54903 ENSG00000011143 frequent in Finland Bardet-Biedl syndrome 13, 615990 (3), Autosomal recessive; Meckel syndrome 1, 249000 (3), Autosomal recessive; Joubert syndrome 28, 617121 (3), Autosomal recessive Mks1 (MGI:3584243) -chr17 58238549 58268517 17q23.1 17q22 150205 LPO Lactoperoxidase LPO 4025 ENSG00000167419 Lpo (MGI:1923363) -chr17 58269854 58280934 17q23.1 17q22 606989 MPO Myeloperoxidase MPO 4353 ENSG00000005381 translocated in t(15;17)(q22;q11.2) {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; Myeloperoxidase deficiency, 254600 (3), Autosomal recessive; {Lung cancer, protection against, in smokers} (3) Mpo (MGI:97137) -chr17 58301230 58328794 17q23.2 17q22 610764 BZRAP1, PRAX1, RIMBP1, KIAA0612 Benzodiazapine receptor (peripheral)-associated protein 1 TSPOAP1 9256 ENSG00000005379 Tspoap1 (MGI:2450877) -chr17 58331231 58331317 17q22 17q22 615657 MIR142 Micro RNA 142 MIR142 406934 ENSG00000284353 Mir142 (MGI:2676827) -chr17 58345177 58352200 17q22 17q22 603555 SUPT4H1 SPT4 homolog, DSIF elongation factor subunit SUPT4H1 6827 ENSG00000213246 Supt4b,Supt4a (MGI:107416,MGI:1335090) -chr17 58352499 58418893 17q23.2 17q22 612482 RNF43, RNF124, SSPCS Ring finger protein 43 RNF43 54894 ENSG00000108375 Sessile serrated polyposis cancer syndrome, 617108 (3), Autosomal dominant Rnf43 (MGI:2442609) -chr17 58489536 58518108 Chr.17 17q22 603559 MTMR4 Myotubularin-related protein 4 MTMR4 9110 ENSG00000108389 Mtmr4 (MGI:2180699) -chr17 58520254 58544371 17q23 17q22 603696 SEPT4, PNUTL2 Septin 4 SEPTIN4 5414 ENSG00000108387 Septin4 (MGI:1270156) -chr17 58556677 58692044 17q22 17q22 605792 TEX14, SPGF23 Testis-expressed gene 14 TEX14 56155 ENSG00000121101 Spermatogenic failure 23, 617707 (3), Autosomal recessive Tex14 (MGI:1933227) -chr17 58692139 58735610 17q22 17q22 602774 RAD51C, FANCO, BROVCA3 RAD52 paralog C RAD51C 5889 ENSG00000108384 {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3); Fanconi anemia, complementation group O, 613390 (3), Autosomal recessive Rad51c (MGI:2150020) -chr17 58755853 58985616 17q22 17q22 619308 PPM1E, CAMKPN Protein phosphatase, magnesium/manganese-dependent, 1E PPM1E 22843 ENSG00000175175 Ppm1e (MGI:2444096) -chr17 58968009 59106879 17q22-q23 17q22 605073 TRIM37, MUL, KIAA0898 Tripartite motif-containing 37 TRIM37 4591 ENSG00000108395 Mulibrey nanism, 253250 (3), Autosomal recessive Trim37 (MGI:2153072) -chr17 59109856 59155185 17q22 17q22 616674 SKA2, FAM33A Spindle- and kinetochore-associated complex, subunit 2 SKA2 348235 ENSG00000182628 Ska2 (MGI:1913390) -chr17 59151135 59151220 17q22 17q22 615675 MIR301A, MIR301 Micro RNA 301A MIR301A 407027 ENSG00000207996 Mir301 (MGI:3619324) -chr17 59155354 59206708 17q22 17q22 615920 PRR11 Proline-rich protein 11 PRR11 55771 ENSG00000068489 Prr11 (MGI:2444496) -chr17 59210034 59215229 17q22 17q22 613175 SMG8, C17orf71, ALKUS SMG8 nonsense-mediated mRNA decay factor SMG8 55181 ENSG00000167447 Alzahrani-Kuwahara syndrome, 619268 (3), Autosomal recessive Smg8 (MGI:1921383) -chr17 59220469 59275969 17q23.2 17q22 616317 GDPD1, GDE4 Glycerophosphodiester phosphodiesterase domain-containing protein 1 GDPD1 284161 ENSG00000153982 Gdpd1 (MGI:1913819) -chr17 59331654 59401731 17q23.2 17q22 609723 YPEL2 Yippee-like 2 YPEL2 388403 ENSG00000175155 Ypel2 (MGI:1925114) -chr17 59500000 63100000 17q23.1-q23.2 613355 DEL17q23.1q23.2, C17DELq23.1q23.2 Chromosome 17q23.1-q23.2 deletion syndrome Chromosome 17q23.1-q23.2 deletion syndrome, 613355 (4), Isolated cases -chr17 59500000 63100000 17q23.1-q23.2 613618 DUP17q23.1q23.2, C17DUPq23.1q23.2 Chromosome 17q23.1-q23.2 duplication syndrome 2.2 Mb contiguous gene duplication syndrome Chromosome 17q23.1-q23.2 duplication syndrome, 613618 (4), Autosomal dominant -chr17 59565562 59608344 17q23.3 17q23.1 607570 DHX40, DDX40 DEAH-box helicase 40 DHX40 79665 ENSG00000108406 Dhx40 (MGI:1914737) -chr17 59619894 59696955 17q23 17q23.1 118955 CLTC, MRD56 Clathrin, heavy polypeptide (Hc) CLTC 1213 ENSG00000141367 fusion gene with TFE3 in renal adenocarcinoma Mental retardation, autosomal dominant 56, 617854 (3), Autosomal dominant Cltc (MGI:2388633) -chr17 59697305 59707625 17q23.1 17q23.1 608625 PTRH2, BIT1, IMNEPD Peptidyl-tRNA hydrolase 2 PTRH2 51651 ENSG00000141378 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3), Autosomal recessive Ptrh2 (MGI:2444848) -chr17 59707653 59842254 17q23.1 17q23.1 611753 VMP1, TMEM49, EPG3 Vacuole membrane protein 1 VMP1 81671 ENSG00000062716 Vmp1 (MGI:1923159) -chr17 59841265 59841336 17q23.1 17q23.1 611020 MIR21, MIRN21 Micro RNA 21 MIR21 406991 ENSG00000284190 -chr17 59859466 59892947 Chr.17 17q23.1 607344 TUBD1, TUBD Tubulin, delta-1 TUBD1 51174 ENSG00000108423 Tubd1 (MGI:1891826) -chr17 59893120 59950573 17q23.1 17q23.1 608938 RPS6KB1, S6K1 Ribosomal protein S6 kinase B1 RPS6KB1 6198 ENSG00000108443 Rps6kb1 (MGI:1270849) -chr17 59952239 59964739 17q23.1 17q23.1 615172 RNFT1 RING finger protein, transmembrane 1 RNFT1 51136 ENSG00000189050 Rnft1 (MGI:1924142) -chr17 60083565 60088466 17q23 17q23.1 615772 WFDC21P, LNCDC, LOC615638 WAP four-disulfide core domain 21, pseudogene WFDC21P 645638 ENSG00000261040 -chr17 60149941 60179020 17q23 17q23.1 114760 CA4 Carbonic anhydrase IV CA4 762 ENSG00000167434 Car4 (MGI:1096574) -chr17 60177230 60422469 17q22 17q23.1-q23.2 607740 USP32, USP10 Ubiquitin-specific protease 32 USP32 84669 ENSG00000170832 Usp32 (MGI:2144475) -chr17 60200000 76800000 17q23.2-q25.1 612967 BMIQ15 Body mass index quantitative trait locus 15 100302719 associated with rs228883 and rs1005651 [Body mass index QTL 15], 612967 (2) -chr17 60200000 63100000 17q23.2 600852 RP17 Retinitis pigmentosa 17 contiguous gene disorder Retinitis pigmentosa 17, 600852 (4), Autosomal dominant -chr17 60443148 60526241 17q22-q23 17q23.2 605324 APPBP2, PAT1 Amyloid beta precursor protein-binding protein 2 APPBP2 10513 ENSG00000062725 Appbp2 (MGI:1914134) -chr17 60600186 60666279 17q22-q23 17q23.2 605100 PPM1D, WIP1, JDVS Protein phosphatase, magnesium-dependent, 1, delta isoform PPM1D 8493 ENSG00000170836 amplified in breast cancer Breast cancer, somatic, 114480 (3); Jansen de Vries syndrome, 617450 (3), Autosomal dominant Ppm1d (MGI:1858214) -chr17 60677850 61392830 17q23.2 17q23.2 607470 BCAS3 BCAS3 microtubule associated cell migration factor BCAS3 54828 ENSG00000141376 Bcas3 (MGI:2385848) -chr17 61399842 61409465 17q23 17q23.2 600747 TBX2, VETD T-box 2 TBX2 6909 ENSG00000121068 Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3), Autosomal dominant Tbx2 (MGI:98494) -chr17 61452421 61485109 17q21-q22 17q23.2 601719 TBX4, ICPPS, PAPPAS T-box 4 TBX4 9496 ENSG00000121075 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 (3), Autosomal dominant; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, 601360 (3), Autosomal recessive Tbx4 (MGI:102556) -chr17 61590420 61591218 17q23.2 17q23.2 609274 NACA2 Nascent polypeptide-associated complex, alpha polypeptide, 2 NACA2 342538 ENSG00000253506 -chr17 61679138 61864119 17q22 17q23.2 605882 BRIP1, BACH1, FANCJ BRCA1-associated C-terminal helicase 1 BRIP1 83990 ENSG00000136492 ?or 17q23 Fanconi anemia, complementation group J, 609054 (3); {Breast cancer, early-onset, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant Brip1 (MGI:2442836) -chr17 61865366 61927981 17q23.2 17q23.2 611346 INTS2, INT2, KIAA1287 Integrator complex subunit 2 INTS2 57508 ENSG00000108506 Ints2 (MGI:1917672) -chr17 61942604 62065982 17q22-q23 17q23.2 603808 MED13, THRAP1, TRAP240, MRD61 Mediator complex subunit 13 MED13 9969 ENSG00000108510 Intellectual developmental disorder 61, 618009 (3), Autosomal dominant Med13 (MGI:3029632) -chr17 62423875 62453384 17q23.2 17q23.2 618902 METTL2A, METTL2 Methyltransferase-like 2A METTL2A 339175 ENSG00000087995 Mettl2 (MGI:1289171) -chr17 62470907 62615480 17q23.2 17q23.2 608439 TLK2, MRD57 Tousled-like kinase 2 TLK2 11011 ENSG00000146872 Mental retardation, autosomal dominant 57, 618050 (3), Autosomal dominant Tlk2 (MGI:1346023) -chr17 62627669 62693596 17q23.2 17q23.2 612264 MRC2, ENDO180, UPARAP, CD280 Mannose receptor, C-type, 2 MRC2 9902 ENSG00000011028 Mrc2 (MGI:107818) -chr17 62701313 62808345 17q23.2 17q23.2 613337 MARCH10 Membrane-associated RING-CH finger protein 10 MARCHF10 162333 ENSG00000173838 Marchf10 (MGI:2443469) -chr17 62966234 63427705 17q23.3 17q23.2-q23.3 615047 TANC2, KIAA1636, IDDALDS Tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 2 TANC2 26115 ENSG00000170921 Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906 (3), Autosomal dominant Tanc2 (MGI:2444121) -chr17 63100000 64600000 17q23 609656 BSZQTL Bone size quantitative trait locus 1 100188793 {Bone size QTL}, 609656 (2) -chr17 63100000 83257441 17q23-qter 170200 PEPE Peptidase E PEPE 5185 -chr17 63432303 63446638 17q11-qter 17q23.3 600019 CYB561, ORTHYP2 Cytochrome b-561 CYB561 1534 ENSG00000008283 Orthostatic hypotension 2, 618182 (3), Autosomal recessive Cyb561 (MGI:103253) -chr17 63477060 63498372 17q23 17q23.3 106180 ACE, DCP1, ACE1, MVCD3, ICH Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1) ACE 1636 ENSG00000159640 {Stroke, hemorrhagic}, 614519 (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {Myocardial infarction, susceptibility to} (3); {Microvascular complications of diabetes 3}, 612624 (3); [Angiotensin I-converting enzyme, benign serum increase] (3); {SARS, progression of} (3) Ace (MGI:87874) -chr17 63523333 63548991 17q23.3 17q23.3 608168 KCNH6, HERG2 Potassium channel, voltage-gated, subfamily H, member 6 KCNH6 81033 ENSG00000173826 Kcnh6 (MGI:2684139) -chr17 63550476 63594265 17q23.3 17q23.3 605973 DCAF7, AN11 DDB1- and CUL4-associated factor 7 DCAF7 10238 ENSG00000136485 Dcaf7 (MGI:1919083) -chr17 63600894 63608364 17q22-q24.2 17q23.3 612958 TACO1, CCDC44, MC4DN8 Translational activator of mitochondrially encoded cytochrome c oxidase subunit I TACO1 51204 ENSG00000136463 Mitochondrial complex IV deficiency, nuclear type 8, 619052 (3), Autosomal recessive Taco1 (MGI:1917457) -chr17 63622208 63696304 17q23.3 17q23.3 602539 MAP3K3, MEKK3, MAPKKK3 Mitogen-activated kinase kinase kinase 3 MAP3K3 4215 ENSG00000198909 Map3k3 (MGI:1346874) -chr17 63702831 63741985 17q23.3 17q23.3 608626 STRADA, STRAD, LYK5 STE20-related kinase adaptor alpha STRADA 92335 ENSG00000266173 Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive Strada (MGI:1919399) -chr17 63745254 63773596 17q23.3 17q23.3 618260 CCDC47, THNS Coiled-coil domain-containing protein 47 CCDC47 57003 ENSG00000108588 Trichohepatoneurodevelopmental syndrome, 618268 (3), Autosomal recessive Ccdc47 (MGI:1914413) -chr17 63773855 63819316 17q23.3 17q23.3 613369 DDX42, RHELP DEAD-box helicase 42 DDX42 11325 ENSG00000198231 Ddx42 (MGI:1919297) -chr17 63819432 63827662 17q23.3 17q23.3 618411 FTSJ3 FTSJ RNA 2-prime-O-methyltransferase 3 FTSJ3 117246 ENSG00000108592 Ftsj3 (MGI:1860295) -chr17 63827430 63832018 17q24-q25 17q23.3 601681 PSMC5, TRIP1 Proteasome (prosome, macropain) 26S subunit, ATPase, 5 PSMC5 5705 ENSG00000087191 Psmc5 (MGI:105047) -chr17 63832080 63842684 17q23-q24 17q23.3 601736 SMARCD2, BAF60B, SGD2 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily d, member 2 SMARCD2 6603 ENSG00000108604 Specific granule deficiency 2, 617475 (3), Autosomal recessive Smarcd2 (MGI:1933621) -chr17 63857015 63864378 17q23.3 17q23.3 612756 TCAM1P, TCAM1 Testicular cell adhesion molecule 1, pseudogene TCAM1P 146771 ENSG00000240280 -chr17 63872011 63873728 17q22-q24 17q23.3 118820 CSH2, CSB Chorionic somatomammotropin B CSH2 1443 ENSG00000213218 Gh (MGI:95707) -chr17 63880214 63881943 17q22-q24 17q23.3 139240 GH2, GHV Growth hormone-2 GH2 2689 ENSG00000136487 Gh (MGI:95707) -chr17 63894917 63896573 17q22-q24 17q23.3 150200 CSH1, CSA, PL Chorionic somatomammotropin hormone-1 CSH1 1442 ENSG00000136488 [Placental lactogen deficiency] (1) Gh (MGI:95707) -chr17 63909601 63911279 17q22-q24 17q23.3 603515 CSHL1, CSL Chorionic somatomammotropin hormone-like 1 CSHL1 1444 ENSG00000204414 Gh (MGI:95707) -chr17 63917202 63918838 17q22-q24 17q23.3 139250 GH1, GHN, IGHD1A, IGHD1B, IGHD2 Growth hormone-1 GH1 2688 ENSG00000259384 5'-GH1-CSHP1-CSH1-GH2-CSH2-3' Kowarski syndrome, 262650 (3), Autosomal recessive; Growth hormone deficiency, isolated, type II, 173100 (3), Autosomal dominant; Growth hormone deficiency, isolated, type IB, 612781 (3); Growth hormone deficiency, isolated, type IA, 262400 (3), Autosomal recessive Gh (MGI:95707) -chr17 63928739 63932330 17q23 17q23.3 147245 CD79B, IGB, B29, AGM6 CD79B antigen CD79B 974 ENSG00000007312 Agammaglobulinemia 6, 612692 (3), Autosomal recessive Cd79b (MGI:96431) -chr17 63938553 63972917 17q23.1-q25.3 17q23.3 603967 SCN4A, HYPP, NAC1A, HOKPP2, CMS16 Sodium voltage-gated channel, alpha subunit 4 SCN4A 6329 ENSG00000007314 21.5kb from GH1 Paramyotonia congenita, 168300 (3), Autosomal dominant; Hypokalemic periodic paralysis, type 2, 613345 (3), Autosomal dominant; Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3), Autosomal dominant; Myasthenic syndrome, congenital, 16, 614198 (3), Autosomal recessive; Hyperkalemic periodic paralysis, type 2, 170500 (3), Autosomal dominant Scn4a (MGI:98250) -chr17 64002594 64020632 17q23-q25 17q23.3 146630 ICAM2 Intercellular adhesion molecule-2 ICAM2 3384 ENSG00000108622 Icam2 (MGI:96394) -chr17 64039141 64132468 17q23.3 17q23.3 604033 ERN1, IRE1, IRE1A Endoplasmic reticulum-to-nucleus signaling 1 ERN1 2081 ENSG00000178607 Ern1 (MGI:1930134) -chr17 64319414 64413843 17q23 17q23.3 173445 PECAM1 Platelet/endothelial cell adhesion molecule (CD31 antigen) PECAM1 5175 ENSG00000261371 Pecam1 (MGI:97537) -chr17 64477784 64497053 17q23-q24 17q23.3 604983 POLG2, POLGB, PEOA4, MTDPS16A, MTDPS16B Polymerase, DNA, gamma-2 POLG2 11232 ENSG00000256525 mutation identified in 1 MTDPS16A patient and 1 MTDPS16B patient Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3), Autosomal dominant; ?Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 (3), Autosomal recessive; ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), 619425 (3), Autosomal recessive Polg2 (MGI:1354947) -chr17 64498253 64506865 17q23-q25 17q23.3 180630 DDX5, HLR1, G17P1 DEAD-box helicase 5 DDX5 1655 ENSG00000108654 near BRCA1 Ddx5 (MGI:105037) -chr17 64542281 64662306 17q23.3-q24.1 17q23.3-q24.1 605532 SMURF2 SMAD-specific E3 ubiquitin protein ligase 2 SMURF2 64750 ENSG00000108854 Smurf2 (MGI:1913563) -chr17 64854129 64919477 17q24.1 17q24.1 616557 LRRC37A3 Leucine-rich repeat-containing protein 37A3 LRRC37A3 374819 ENSG00000176809 -chr17 65009288 65056739 17q24.3 17q24.1 604406 GNA13 Guanine nucleotide-binding protein, alpha-13 GNA13 10672 ENSG00000120063 Gna13 (MGI:95768) -chr17 65137369 65227702 17q23-q24 17q24.1 604067 RGS9, PERRS Regulator of G protein signaling 9 RGS9 8787 ENSG00000108370 Bradyopsia, 608415 (3) Rgs9 (MGI:1338824) -chr17 65528562 65561647 17q24 17q24.1 604025 AXIN2, ODCRCS Axis inhibitor 2 (conductin, mouse, homolog of) AXIN2 8313 ENSG00000168646 Colorectal cancer, somatic, 114500 (3); Oligodontia-colorectal cancer syndrome, 608615 (3), Autosomal dominant Axin2 (MGI:1270862) -chr17 65635536 66192132 17q24.1 17q24.1 618980 CEP112, CCDC46, MACOCO, SPGF44 Centrosomal protein, 112kD CEP112 201134 ENSG00000154240 Spermatogenic failure 44, 619044 (3), Autosomal recessive Cep112 (MGI:1923673) -chr17 66200000 72900000 17q24.2-q24.3 135400 HTGH, DEL17q24 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (chromosome 17q24 microdeletion syndrome) Hypertrichosis terminalis, generalized, with or without gingival hyperplasia, 135400 (4), Autosomal recessive -chr17 66212032 66229414 17q23-qter 17q24.2 138700 APOH Apolipoprotein H (beta-2-glycoprotein I) APOH 350 ENSG00000091583 Apoh (MGI:88058) -chr17 66302612 66810742 17q22-q23.2 17q24.2 176960 PRKCA, PKCA Protein kinase C, alpha polypeptide PRKCA 5578 ENSG00000154229 cen-COL1A1-PKCA-GH1 Pituitary tumor, invasive (3) Prkca (MGI:97595) -chr17 66835116 66894750 17q24 17q24.2 606405 CACNG5 Calcium channel, voltage-dependent, gamma-5 subunit CACNG5 27091 ENSG00000075429 Cacng5 (MGI:2157946) -chr17 66964706 67033397 17q24.2 17q24.2 606404 CACNG4 Calcium channel, voltage-dependent, gamma-4 subunit CACNG4 27092 ENSG00000075461 Cacng4 (MGI:1859167) -chr17 67044553 67056796 17q24 17q24.2 114209 CACNG1, CACNLG Calcium channel, voltage-dependent, gamma-1 subunit CACNG1 786 ENSG00000108878 Cacng1 (MGI:1206582) -chr17 67070443 67245988 17q24.2 17q24.2 606699 HELZ, KIAA0054, HUMORF5 Helicase with zinc finger domain HELZ 9931 ENSG00000198265 Helz (MGI:1925705) -chr17 67337915 67366597 17q24.2 17q24.2 604450 PSMD12, P55, STISS Proteasome 26S subunit, non-ATPase, 12 PSMD12 5718 ENSG00000197170 Stankiewicz-Isidor syndrome, 617516 (3), Autosomal dominant Psmd12 (MGI:1914247) -chr17 67377280 67697255 17q24.2 17q24.2 605134 PITPNC1, RDGBB Phosphatidylinositol transfer protein, cytoplasmic, 1 PITPNC1 26207 ENSG00000154217 Pitpnc1 (MGI:1919045) -chr17 67717935 67744530 17q24.2 17q24.2 615366 NOL11 Nucleolar protein 11 NOL11 25926 ENSG00000130935 Nol11 (MGI:1916229) -chr17 67825502 67984377 17q24 17q24.2 601819 BPTF, FALZ, FAC1, NURF301, NEDDFL Bromodomain PHD finger transcription factor BPTF 2186 ENSG00000171634 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3), Autosomal dominant Bptf (MGI:2444008) -chr17 68035734 68046853 17q23-q24 17q24.2 600685 KPNA2, RCH1, QIP2 Karyopherin alpha-2 KPNA2 3838 ENSG00000182481 Gm10184,Kpna2 (MGI:3704480,MGI:103561) -chr17 68206128 68257163 17q24.2 17q24.2 615169 AMZ2 Archaelysin family metallopeptidase 2 AMZ2 51321 ENSG00000196704 Amz2 (MGI:104837) -chr17 68259169 68452018 17q24.2 17q24.2 610008 ARSG, KIAA1001, USH4 Arylsulfatase G ARSG 22901 ENSG00000141337 Usher syndrome, type IV, 618144 (3), Autosomal recessive Arsg (MGI:1921258) -chr17 68267025 68291438 17q24.2 17q24.2 603880 SLC16A6, MCT7 Solute carrier family 16 (monocarboxylic acid transporter) member 6 SLC16A6 9120 ENSG00000108932 Slc16a6 (MGI:2144585) -chr17 68413622 68551315 17q23-q24 17q24.2 188830 PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1 Protein kinase, cAMP-dependent, regulatory, type I, alpha PRKAR1A 5573 ENSG00000108946 fused with RET to form PTC2 Pigmented nodular adrenocortical disease, primary, 1, 610489 (3), Autosomal dominant; Acrodysostosis 1, with or without hormone resistance, 101800 (3), Autosomal dominant; Adrenocortical tumor, somatic (3); Carney complex, type 1, 160980 (3), Autosomal dominant; Myxoma, intracardiac, 255960 (3), Autosomal dominant Prkar1a (MGI:104878) -chr17 68421280 68457495 17q24.2 17q24.2 609224 WIPI1, WIPI49 WD40 repeat protein interacting with phosphoinositides 1 WIPI1 55062 ENSG00000070540 Wipi1 (MGI:1261864) -chr17 68530275 68601366 17q24.2 17q24.2 611062 FAM20A, AIGFS, AI1G Family with sequence similarity 20, member A FAM20A 54757 ENSG00000108950 Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3), Autosomal recessive Fam20a (MGI:2388266) -chr17 68867284 68955414 17q24.2 17q24.2 612505 ABCA8, KIAA0822 ATP-binding cassette, subfamily A, member 8 ABCA8 10351 ENSG00000141338 Abca8a,Abca8b (MGI:1351668,MGI:2386846) -chr17 68974487 69078977 17q24.2 17q24.2 612507 ABCA9 ATP-binding cassette, subfamily A, member 9 ABCA9 10350 ENSG00000154258 Abca9 (MGI:2386796) -chr17 69062043 69141926 17q24.2 17q24.2-q24.3 612504 ABCA6 ATP-binding cassette, subfamily A, member 6 ABCA6 23460 ENSG00000154262 Abca6 (MGI:1923434) -chr17 69100000 72900000 17q24 115660 CTRCT7, CCA1 Cataract 7 878 Cataract 7, 115660 (2), Autosomal dominant -chr17 69100000 76800000 17q24.3-q25.1 261800 PRBNS Pierre Robin syndrome 100301572 between D17S795 and D17S929 Pierre Robin syndrome, 261800 (2), Autosomal recessive -chr17 69100000 76800000 17q24.3-q25.1 278850 SRXX2, DUP17q24.3 46XX sex reversal 2 duplication or triplication of 68kb XXSR regulatory region upstream of SOX9 46XX sex reversal 2, 278850 (4), Autosomal dominant -chr17 69100000 72900000 17q24 616425 SRXY10 46,XY sex reversal 10 deletion of 32.5kb XYSR regulatory region upstream of SOX9 46XY sex reversal 10, 616425 (4), Autosomal dominant -chr17 69100000 72900000 17q24.3 614834 TTPP3 Thyrotoxic periodic paralysis, susceptibility to, 3 112272595 associated with rs312691 {Thyrotoxic periodic paralysis, susceptibility to, 3}, 614834 (2) -chr17 69148006 69244847 17q24.2 17q24.3 612508 ABCA10 ATP-binding cassette, subfamily A, member 10 ABCA10 10349 ENSG00000154263 -chr17 69244310 69327132 17q24.2 17q24.3 612503 ABCA5, KIAA1888, HTC3 ATP-binding cassette, subfamily A, member 5 ABCA5 23461 ENSG00000154265 mutation identified in 1 HTC3 patient ?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3), Autosomal recessive Abca5 (MGI:2386607) -chr17 69414696 69553864 17q24.3 17q24.3 601254 MAP2K6, PRKMK6, MKK6, MEK6, MAPKK6 Mitogen-activated protein kinase kinase 6 MAP2K6 5608 ENSG00000108984 Map2k6 (MGI:1346870) -chr17 70075224 70135607 17q25 17q24.3 605722 KCNJ16, KIR5.1, HKTD Potassium channel, inwardly rectifying, subfamily J, member 16 KCNJ16 3773 ENSG00000153822 Hypokalemic tubulopathy and deafness, 619406 (3), Autosomal recessive Kcnj16 (MGI:1314842) -chr17 70169531 70180043 17q23.1-q24.2 17q24.3 600681 KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9 Potassium channel, inwardly rectifying, subfamily J, member 2 KCNJ2 3759 ENSG00000123700 Atrial fibrillation, familial, 9, 613980 (3), Autosomal dominant; Andersen syndrome, 170390 (3), Autosomal dominant; Short QT syndrome 3, 609622 (3) Kcnj2 (MGI:104744) -chr17 72121019 72126415 17q24.3-q25.1 17q24.3 608160 SOX9, CMD1, SRA1 SRY (sex-determining region Y)-box 9 SOX9 6662 ENSG00000125398 Campomelic dysplasia with autosomal sex reversal, 114290 (3), Autosomal dominant; Acampomelic campomelic dysplasia, 114290 (3), Autosomal dominant; Campomelic dysplasia, 114290 (3), Autosomal dominant Sox9 (MGI:98371) -chr17 72403321 72592803 17q24.3 17q24.3 617079 LINC00673, HILNC75, SLNCR, LUCAIR1 Long intergenic noncoding RNA 673 LINC00673 100499467 ENSG00000227036 -chr17 72645948 73092713 17q24.3-q25.1 17q24.3-q25.1 616508 SLC39A11, ZIP11, C17orf26 Solute carrier family 39 (zinc transporter), member 11 SLC39A11 201266 ENSG00000133195 Slc39a11 (MGI:1917056) -chr17 72900000 83257441 17q25.1-q25.3 614149 NDNC9 Nail disorder, nonsyndromic congenital, 9 (anonychia-onycholysis) 100682325 max lod at D17S1301 Nail disorder, nonsyndromic congenital, 9, 614149 (2), Autosomal recessive -chr17 73165009 73176632 17q24 17q25.1 182452 SSTR2 Somatostatin receptor-2 SSTR2 6752 ENSG00000180616 Sstr2 (MGI:98328) -chr17 73193054 73208506 17q25.1 17q25.1 606973 COG1, LDLB, KIAA1381, CDG2G Component of oligomeric golgi complex 1 COG1 9382 ENSG00000166685 Congenital disorder of glycosylation, type IIg, 611209 (3), Autosomal recessive Cog1 (MGI:1333873) -chr17 73283623 73312000 17q24-q25 17q25.1 605468 CDC42EP4, BORG4 CDC42 effector protein 4 (binder of Rho GTPases 4) CDC42EP4 23580 ENSG00000179604 Cdc42ep4 (MGI:1929760) -chr17 73334383 73644480 17q25.1 17q25.1 607217 SDK2, KIAA1514 Sidekick cell adhesion molecule 2 SDK2 54549 ENSG00000069188 Sdk2 (MGI:2443847) -chr17 74203677 74210654 17q 17q25.1 604182 RPL38 Ribosomal protein L38 RPL38 6169 ENSG00000172809 Rpl38 (MGI:1914921) -chr17 74213570 74262019 17q25.1 17q25.1 608855 TTYH2 Tweety family member 2 TTYH2 94015 ENSG00000141540 Ttyh2 (MGI:2157091) -chr17 74274228 74314883 17q25 17q25.1 605483 DNAI2, CILD9 Dynein, axonemal, intermediate chain 2 DNAI2 64446 ENSG00000171595 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3), Autosomal recessive Dnai2 (MGI:2685574) -chr17 74367505 74372599 17q25.1 17q25.1 609046 GPR142, PGR2 G protein-coupled receptor 142 GPR142 350383 ENSG00000257008 Gpr142 (MGI:2668437) -chr17 74431349 74451657 17q25.1-q25.3 17q25.1 605949 GPRC5C, RAIG3 G protein-coupled receptor, family C, group 5, member C GPRC5C 55890 ENSG00000170412 Gprc5c (MGI:1917605) -chr17 74466372 74484797 17q24 17q25.1 606790 CMRF35H, CMRF35H9 CMRF35H antigen CD300A 11314 ENSG00000167851 Cd300a (MGI:2443411) -chr17 74521173 74531474 17q25.1 17q25.1 610705 CD300LB, TREM5, IREM3 CD300 antigen-like family, member B CD300LB 124599 ENSG00000178789 Cd300lb (MGI:2685099) -chr17 74534358 74546114 17q22-q24 17q25.1 606786 CMRF35, CMRF35A CMRF35 antigen CD300C 10871 ENSG00000167850 Cd300c2,Cd300c (MGI:2153249,MGI:3032626) -chr17 74557228 74567511 17q25.1 17q25.1 616560 CD300H CD300H antigen CD300H 100130520 ENSG00000284690 -chr17 74579364 74592282 17q25.1 17q25.1 616301 CD300LD, CD300D CD300 antigen-like family, member D CD300LD 100131439 ENSG00000204345 Cd300ld,Cd300ld3,Cd300ld5 (MGI:3702661,MGI:2687214,MGI:2442358) -chr17 74609884 74623957 17q25.1 17q25.1 609801 CD300E, CD300LE, IREM2, CLM2 CD300E antigen CD300E 342510 ENSG00000186407 Cd300e (MGI:2387602) -chr17 74671130 74747334 17q25.1 17q25.1 609956 RAB37 Pas-associated protein RAB37 RAB37 326624 ENSG00000172794 Rab37 (MGI:1929945) -chr17 74694307 74712999 17q25.1 17q25.1 609807 CD300LF, IGSF13, IREM1, CLM1 CD300 antigen-like family, member F CD300LF 146722 ENSG00000186074 Cd300lf (MGI:2442359) -chr17 74748627 74769352 17q25.1 17q25.1 604990 SLC9A3R1, EBP50, NHERF1, NPHLOP2 Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulatory factor 1 SLC9A3R1 9368 ENSG00000109062 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3), Autosomal dominant Slc9a3r1 (MGI:1349482) -chr17 74842020 74860842 17q25 17q25.1 138254 GRIN2C, NMDAR2C Glutamate receptor, ionotropic, N-methyl D-aspartate 2C GRIN2C 2905 ENSG00000161509 Grin2c (MGI:95822) -chr17 74862496 74872993 17q24-q25 17q25.1 103270 FDXR, ADXR, ANOA Ferredoxin reductase (adrenodoxin reductase) FDXR 2232 ENSG00000161513 Auditory neuropathy and optic atrophy, 617717 (3), Autosomal recessive Fdxr (MGI:104724) -chr17 74916082 74923254 17q24-q25 17q25.1 607696 USH1G, SANS USH1 protein network component SANS USH1G 124590 ENSG00000182040 ?allelic to DFNA20 Usher syndrome, type 1G, 606943 (3), Autosomal recessive Ush1g (MGI:2450757) -chr17 74922954 74933912 17q25.3 17q25.1 607827 OTOP2 Otopetrin 2 OTOP2 92736 ENSG00000183034 Otop2 (MGI:2388365) -chr17 74935801 74949992 17q25.3 17q25.1 607828 OTOP3 Otopetrin 3 OTOP3 347741 ENSG00000182938 Otop3 (MGI:1916852) -chr17 74950741 74972762 17q25.1 17q25.1 605752 HID1, 17orf28, DMC1 HID1 domain-containing protein 1 HID1 283987 ENSG00000167861 Hid1 (MGI:2445087) -chr17 75012669 75021260 17q25.1 17q25.1 603000 MRPL58, ICT1, DS1 Mitochondrial ribosomal protein L58 MRPL58 3396 ENSG00000167862 Mrpl58 (MGI:1915822) -chr17 75032570 75065885 17q25.1 17q25.1 613422 KCTD2, KIAA0176 Potassium channel tetramerization domain-containing 2 KCTD2 23510 ENSG00000180901 Kctd2 (MGI:1917632) -chr17 75038862 75046968 17q25.1 17q25.1 618121 ATP5PD, APT5H ATP synthase, peripheral stalk, subunit D ATP5PD 10476 ENSG00000167863 Atp5h (MGI:1918929) -chr17 75087764 75106161 17q25.1 17q25.1 603879 SLC16A5, MCT6 Solute carrier family 16 (monocarboxylic acid transporter) member 5 SLC16A5 9121 ENSG00000170190 Slc16a5 (MGI:2443515) -chr17 75130227 75131964 17q23-q25 17q25.1 191720 NT5C, UMPH2, DNT1 5', 3' nucleotidase, cytosolic NT5C 30833 ENSG00000125458 Nt5c (MGI:1354954) -chr17 75135242 75154511 17q25.2 17q25.1 619242 JPT1, HN1 Jupiter microtubule-associated homolog 1 JPT1 51155 ENSG00000189159 pseudogene on chr.2 Jpt1 (MGI:1096361) -chr17 75165585 75182958 17q25.1 17q25.1 603042 SUMO2, SMT3B Small ubiquitin-like modifier 2 SUMO2 6613 ENSG00000188612 Gm13690,Sumo2 (MGI:3652065,MGI:2158813) -chr17 75205556 75235757 17q25 17q25.1 170285 NUP85, PCNT1, PCNT, NPHS17 Nucleoporin 85kD NUP85 79902 ENSG00000125450 Nephrotic syndrome, type 17, 618176 (3), Autosomal recessive Nup85 (MGI:3046173) -chr17 75261878 75266375 17q23-q25 17q25.1 611974 MRPS7, COXPD34 Mitochondrial ribosomal protein S7 MRPS7 51081 ENSG00000125445 mutation identified in 1 COXPD34 family ?Combined oxidative phosphorylation deficiency 34, 617872 (3), Autosomal recessive Mrps7 (MGI:1354367) -chr17 75225463 75262362 Chr.17 17q25.1 606006 GGA3, KIAA0154 Golgi associated, gamma adaptin ear containing, ARF binding protein 3 GGA3 23163 ENSG00000125447 Gga3 (MGI:2384159) -chr17 75266227 75271291 17q25.1 17q25.1 612072 MIF4GD, SLIP1 MIF4G domain-containing protein MIF4GD 57409 ENSG00000125457 Mif4gd (MGI:1916924) -chr17 75272979 75289957 17q25.3 17q25.1 606521 SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4 Solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 SLC25A19 60386 ENSG00000125454 Microcephaly, Amish type, 607196 (3), Autosomal recessive; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3), Autosomal recessive Slc25a19 (MGI:1914533) -chr17 75318075 75405677 17q24-q25 17q25.1 108355 GRB2 Growth factor receptor-bound protein 2 GRB2 2885 ENSG00000177885 Grb2 (MGI:95805) -chr17 75441158 75500451 17q25.1 17q25.1 618163 TMEM94, KIAA0195, IDDCDF Transmembrane protein 94 TMEM94 9772 ENSG00000177728 Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 (3), Autosomal recessive Tmem94 (MGI:1919197) -chr17 75500260 75515536 17q25.1 17q25.1 612185 CASKIN2, KIAA1139 CASK-interacting protein 2 CASKIN2 57513 ENSG00000177303 Caskin2 (MGI:2157062) -chr17 75516527 75524734 17q25.1 17q25.1 608755 TSEN54, SEN54, PCH2A, PCH4, PCH5 tRNA splicing endonuclease, subunit 54 TSEN54 283989 ENSG00000182173 mutation identified in 1 PCH5 patient Pontocerebellar hypoplasia type 2A, 277470 (3), Autosomal recessive; Pontocerebellar hypoplasia type 4, 225753 (3), Autosomal recessive; ?Pontocerebellar hypoplasia type 5, 610204 (3), Autosomal recessive Tsen54 (MGI:1923515) -chr17 75525079 75575208 17q25.1 17q25.1 618483 LLGL2 LLGL scribble cell polarity complex component 2 LLGL2 3993 ENSG00000073350 Llgl2 (MGI:1918843) -chr17 75626844 75667201 17q25 17q25.1 603781 RECQL5, RECQ5 DNA helicase, RecQ-like 5 RECQL5 9400 ENSG00000108469 Recql5 (MGI:2156841) -chr17 75667310 75708058 17q25.1 17q25.1 610218 SAP30BP, HTRP, HCNGP, HTRG SAP30-binding protein SAP30BP 29115 ENSG00000161526 Sap30bp (MGI:1927479) -chr17 75721338 75757818 17q11-qter 17q25.1 147557 ITGB4 Integrin, beta-4 ITGB4 3691 ENSG00000132470 Epidermolysis bullosa of hands and feet, 131800 (3), Autosomal dominant; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive Itgb4 (MGI:96613) -chr17 75751468 75765191 17q24 17q25.1 604313 GALK1 Galactokinase-1 GALK1 2584 ENSG00000108479 Galactokinase deficiency with cataracts, 230200 (3), Autosomal recessive Galk1 (MGI:95730) -chr17 75776433 75779778 17q25 17q25.1 601058 H3F3B H3 histone, family 3B (H3.3B) H3-3B 3021 ENSG00000132475 H3f3b (MGI:1101768) -chr17 75784770 75825798 17q25.1 17q25.1 616375 UNK, UNKEMPT, ZC3H5, KIAA1753 Unkempt family zinc finger protein UNK 85451 ENSG00000132478 Unk (MGI:2442456) -chr17 75827224 75844403 17q25.1 17q25.1 608897 UNC13D, MUNC13-4, HPLH3, HLH3, FHL3 unc-13 homolog D UNC13D 201294 ENSG00000092929 Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3), Autosomal recessive Unc13d (MGI:1917700) -chr17 75845698 75856435 17q25 17q25.1 606962 WBP2, DFNB107 WW domain-binding protein 2 WBP2 23558 ENSG00000132471 Deafness, autosomal recessive 107, 617639 (3), Autosomal recessive Wbp2 (MGI:104709) -chr17 75874163 75878598 17q24-q25 17q25.1 611041 TRIM47, GOA Tripartite motif-containing protein 47 TRIM47 91107 ENSG00000132481 Trim47 (MGI:1917374) -chr17 75880378 75897007 15q25.1 17q25.1 619408 TRIM65 Tripartite motif-containing protein 65 TRIM65 201292 ENSG00000141569 Trim65 (MGI:2442815) -chr17 75898643 75904883 17q23-q25 17q25.1 611844 MRPL38 Mitochondrial ribosomal protein L38 MRPL38 64978 ENSG00000204316 Mrpl38 (MGI:1926269) -chr17 75909573 75941041 17q25.1 17q25.1 616807 FGF1, ALB FAS-binding factor 1 FBF1 85302 ENSG00000188878 Fbf1 (MGI:1922033) -chr17 75941506 75979198 17q25.1 17q25.1 609751 ACOX1, ACOX, SCOX, MITCH Acyl-Coenzyme A oxidase 1, palmitoyl ACOX1 51 ENSG00000161533 Mitchell syndrome, 618960 (3), Autosomal dominant; Peroxisomal acyl-CoA oxidase deficiency, 264470 (3), Autosomal recessive Acox1 (MGI:1330812) -chr17 75979239 76000585 17q25.1 17q25.1 613130 TEN1, C17orf106 TEN1, CST complex subunit TEN1 100134934 ENSG00000257949 Ten1 (MGI:1916785) -chr17 76000854 76005997 17q22-qter 17q25.1 123828 CDK3 Cyclin-dependent kinase 3 CDK3 1018 ENSG00000250506 distal to BRCA1 Cdk3 (MGI:1916931) -chr17 76006844 76027305 17q25 17q25.1 601590 EVPL Envoplakin EVPL 2125 ENSG00000167880 Evpl (MGI:107507) -chr17 76038784 76072516 17q25.1 17q25.1 604858 SRP68 Signal recognition particle, 68kD SRP68 6730 ENSG00000167881 Srp68 (MGI:1917447) -chr17 76070823 76077536 17q25.3 17q25.1 603691 GALR2, GALNR2 Galanin receptor 2 GALR2 8811 ENSG00000182687 Galr2 (MGI:1337018) -chr17 76079181 76082805 17q25.3 17q25.1 610935 ZACN, LGICZ1, ZAC, L2 Zinc activated ion channel ZACN 353174 ENSG00000186919 -chr17 76081015 76103786 17q25.1 17q25.1 608163 EXOC7, EX070, KIAA1067, NEDSEBA Exocyst complex component 7 EXOC7 23265 ENSG00000182473 Neurodevelopmental disorder with seizures and brain atrophy, 619072 (3) Exoc7 (MGI:1859270) -chr17 76136332 76141244 17q22-q25 17q25.1 602291 FOXJ1, FKHL13, HFH4, CILD43 Forkhead box J1 FOXJ1 2302 ENSG00000129654 Ciliary dyskinesia, primary, 43, 618699 (3), Autosomal dominant Foxj1 (MGI:1347474) -chr17 76271295 76308810 17q25.1 17q25.1 618304 QRICH2, SPGF35 Glutamine-rich protein 2 QRICH2 84074 ENSG00000129646 Spermatogenic failure 35, 618341 (3), Autosomal recessive Qrich2 (MGI:2684912) -chr17 76309477 76354197 17q24-q25 17q25.1 601249 PRPSAP1 Phosphoribosyl pyrophosphate synthetase-associated protein-1 PRPSAP1 5635 ENSG00000161542 Prpsap1 (MGI:1915013) -chr17 76383203 76387854 17q25.2 17q25.1 603730 SPHK1 Sphingosine kinase SPHK1 8877 ENSG00000176170 Sphk1 (MGI:1316649) -chr17 76389455 76453233 17q25.1 17q25.1 617649 UBE2O, KIAA1734 Ubiquitin-conjugating enzyme E2O UBE2O 63893 ENSG00000175931 Ube2o (MGI:2444266) -chr17 76453350 76470796 17q25 17q25.1 600950 AANAT, SNAT Arylalkylamine N-acetyltransferase AANAT 15 ENSG00000129673 Aanat (MGI:1328365) -chr17 76470892 76501439 17q25.1 17q25.1 614404 RHBDF2, IRHOM2, TOC Rhomboid 5, Drosophila, homolog of, 2 RHBDF2 79651 ENSG00000129667 Tylosis with esophageal cancer, 148500 (3), Autosomal dominant Rhbdf2 (MGI:2442473) -chr17 76527355 76557691 17q25 17q25.1 608759 CYGB, HGB, STAP Cytoglobin CYGB 114757 ENSG00000161544 Cygb (MGI:2149481) -chr17 76527585 76555338 17q22 17q25.1 610598 PRCD, RP36 PRCD, Dog, homolog of PRCD 768206 ENSG00000214140 Retinitis pigmentosa 36, 610599 (3) Prcd (MGI:3649529) -chr17 76565376 76586127 17q25.1 17q25.1 610137 ST6GALNAC2, SIAT7B, SAITL1 ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 ST6GALNAC2 10610 ENSG00000070731 St6galnac2 (MGI:107553) -chr17 76617768 76643757 17q25.1 17q25.1 610138 ST6GALNAC1, SIAT7A, STYI ST6 alpha-N-aetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 ST6GALNAC1 55808 ENSG00000070526 St6galnac1 (MGI:1341826) -chr17 76712829 76726782 17q25 17q25.1 604914 JMJD6, PSR Jumonji domain containing 6 (phosphatidylserine receptor) JMJD6 23210 ENSG00000070495 Jmjd6 (MGI:1858910) -chr17 76726040 76733880 17q25.1 17q25.1 615262 METTL23, C17orf95, MRT44 Methyltransferase-like 23 METTL23 124512 ENSG00000181038 Mental retardation, autosomal recessive 44, 615942 (3), Autosomal recessive Mettl23 (MGI:1921569) -chr17 76734114 76737410 17q25 17q25.1 600813 SRSF2, SFRS2, SC35 Serine/arginine-rich splicing factor 2 SRSF2 6427 ENSG00000161547 Srsf2 (MGI:98284) -chr17 76868403 76950392 17q25.3 17q25.2 612441 MGAT5B Alpha-1,6-mannosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase isozyme B MGAT5B 146664 ENSG00000167889 Mgat5b (MGI:3606200) -chr17 77088684 77217100 17q25.1-q25.2 17q25.2-q25.3 601504 SEC14L SEC14-like lipid-binding protein 1 SEC14L1 6397 ENSG00000129657 Sec14l1 (MGI:1921386) -chr17 77200000 83257441 17q25.3 605805 ATOD4 Dermatitis, atopic, 4 maximum lod at D17S1290 {Dermatitis, atopic, susceptibility to, 4}, 605805 (2) -chr17 77200000 83257441 17q25 602197 CDR3 Cerebellar degeneration-related autoantigen-3 8163 -chr17 77200000 83257441 17q25 614163 DSPS Delayed sleep phase syndrome, susceptibility to associated with rs28936679 in AANAT {Delayed sleep phase syndrome, susceptibility to}, 614163 (2), Autosomal dominant -chr17 77200000 83257441 17q25 603411 EPR1 Effector cell protease receptor 1 -chr17 77200000 83257441 17q25.3 612239 IS5 Scoliosis, idiopathic, susceptibility to, 5 100190985 between D17S1806 and 17qter {Scoliosis, idiopathic, susceptibility to, 5}, 612239 (2) -chr17 77281498 77500595 17q25 17q25.3 604061 SEPT9, MSF, MSF1, NAPB Septin 9 SEPTIN9 10801 ENSG00000184640 Amyotrophy, hereditary neuralgic, 162100 (3), Autosomal dominant Septin9 (MGI:1858222) -chr17 77958852 78108834 17q25.3 17q25.3 610741 TNRC6C, KIAA1582 Trinucleotide repeat-containing gene 6C TNRC6C 57690 ENSG00000078687 Tnrc6c (MGI:2443265) -chr17 78107396 78132426 17q25 17q25.3 605828 TMC6, EVER1, EV1 Transmembrane channel-like 6 TMC6 11322 ENSG00000141524 Epidermodysplasia verruciformis, 226400 (3), Autosomal recessive Tmc6 (MGI:1098686) -chr17 78129297 78142967 17q25 17q25.3 605829 TMC8, EVER2, EV2 Transmembrane channel-like 8 TMC8 147138 ENSG00000167895 previously mapped to 2p24-p21 Epidermodysplasia verruciformis 2, 618231 (3), Autosomal recessive Tmc8 (MGI:2669037) -chr17 78168544 78172963 17q25 17q25.3 603926 SYNGR2 Synaptogyrin 2 SYNGR2 9144 ENSG00000108639 pseudogene on 15q11; near EV1, EV2, TK1 Syngr2 (MGI:1328324) -chr17 78174078 78187203 17q25.2-q25.3 17q25.3 188300 TK1 Thymidine kinase-1 TK1 7083 ENSG00000167900 Tk1 (MGI:98763) -chr17 78214252 78225634 17q25 17q25.3 603352 API4 Apoptosis inhibitor 4 BIRC5 332 ENSG00000089685 Birc5 (MGI:1203517) -chr17 78356777 78360924 17q25.3 17q25.3 604176 SOCS3, SSI3, CIS3 Suppressor of cytokine signaling 3 SOCS3 9021 ENSG00000184557 Socs3 (MGI:1201791) -chr17 78378622 78424658 17q25.3 17q25.3 614942 PGS1 Phosphatidylglycerophosphate synthase 1 PGS1 9489 ENSG00000087157 Pgs1 (MGI:1921701) -chr17 78423696 78577435 17q25 17q25.3 610063 DNAH17, DNEL2, SPGF39 Dynein, axonemal, heavy chain 17 DNAH17 8632 ENSG00000187775 Spermatogenic failure 39, 618643 (3), Autosomal recessive Dnah17 (MGI:1917176) -chr17 78674047 78782272 17q25 17q25.3 182115 CYTH1, D17S811E, SEC7 Cytohesin 1 CYTH1 9267 ENSG00000108669 Cyth1 (MGI:1334257) -chr17 78787380 78841438 17q25.3 17q25.3 612543 USP36, KIAA1453 Ubiquitin-specific protease 36 USP36 57602 ENSG00000055483 Usp36 (MGI:1919594) -chr17 78852976 78925386 17q25 17q25.3 188825 TIMP2 Tissue inhibitor of metalloproteinase-2 TIMP2 7077 ENSG00000035862 Cep295nl,Timp2 (MGI:98753,MGI:1929713) -chr17 78971254 78979922 17q25 17q25.3 600626 LGALS3BP Lectin, galactoside-binding, soluble, 3 binding protein (galectin 6 binding protein) LGALS3BP 3959 ENSG00000108679 Lgals3bp (MGI:99554) -chr17 78991715 79009792 17q25.3 17q25.3 613165 CANT1, SCAN1, DBQD1, EDM7 Calcium-activated nucleotidase 1 CANT1 124583 ENSG00000171302 Desbuquois dysplasia 1, 251450 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 7, 617719 (3), Autosomal recessive Cant1 (MGI:1923275) -chr17 79022933 79049787 17q25 17q25.3 610365 C1QTNF1, GIP C1q- and tumor necrosis factor-related protein 1 C1QTNF1 114897 ENSG00000173918 C1qtnf1 (MGI:1919254) -chr17 79074811 79088598 17q25.3 17q25.3 611898 NAGLUEB, FLJ21865 N-acetylglucosaminidase, endo-beta ENGASE 64772 ENSG00000167280 Engase (MGI:2443788) -chr17 79089344 79665599 17q25.3 17q25.3 616999 RBFOX3, FOX3, NEUN, HRNBP3 RNA-binding protein FOX1, C. Elegans, homolog of, 3 RBFOX3 146713 ENSG00000167281 Rbfox3 (MGI:106368) -chr17 79730918 79742925 17q25.3 17q25.3 616997 ENPP7 Ectonucleotide pyrophosphatase/phosphodiesterase 7 ENPP7 339221 ENSG00000182156 Enpp7 (MGI:3027917) -chr17 79776253 79787982 17q25 17q25.3 602770 CBX2, M33, SRXY5 Chromobox 2 CBX2 84733 ENSG00000173894 mutation identified in 1 SRXY5 patient ?46XY sex reversal 5, 613080 (3), Autosomal recessive Cbx2 (MGI:88289) -chr17 79792131 79797076 17q25.3 17q25.3 617354 CBX8, PC3 Chromobox 8 CBX8 57332 ENSG00000141570 Cbx8 (MGI:1353589) -chr17 79833155 79839439 17q25.3 17q25.3 603079 CBX4, PC2 Chromobox 4 CBX4 8535 ENSG00000141582 Cbx4 (MGI:1195985) -chr17 79932342 80035874 17q25.3 17q25.3 616637 TBC1D16 TBC1 domain family, member 16 TBC1D16 125058 ENSG00000167291 Tbc1d16 (MGI:2652878) -chr17 80036631 80100612 17q25.3 17q25.3 613799 CCDC40, KIAA1640 Coiled-coil domain-containing protein 40 CCDC40 55036 ENSG00000141519 Ciliary dyskinesia, primary, 15, 613808 (3), Autosomal recessive Ccdc40 (MGI:2443893) -chr17 80101534 80119880 17q25.2-q25.3 17q25.3 606800 GAA Glucosidase, acid alpha- GAA 2548 ENSG00000171298 distal to TK1 Glycogen storage disease II, 232300 (3), Autosomal recessive Gaa (MGI:95609) -chr17 80134368 80147127 17q25.3 17q25.3 608546 EIF4A3, DDX48, MUK34, NMP265, KIAA0111, RCPS Eukaryotic translation initiation factor 4A3 EIF4A3 9775 ENSG00000141543 Robin sequence with cleft mandible and limb anomalies, 268305 (3), Autosomal recessive Eif4a3,Gm5576,Eif4a3l1 (MGI:3644226,MGI:3644832,MGI:1923731) -chr17 80169991 80209330 17q25.3 17q25.3 607211 CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP Caspase recruitment domain-containing protein 14 CARD14 79092 ENSG00000141527 Psoriasis 2, 602723 (3), Autosomal dominant; Pityriasis rubra pilaris, 173200 (3), Autosomal dominant Card14 (MGI:2386258) -chr17 80200667 80220332 17q25.3 17q25.3 605270 SGSH, MPS3A, SFMD N-sulfoglucosamine sulfohydrolase (sulfamidase) SGSH 6448 ENSG00000181523 Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3), Autosomal recessive Sgsh (MGI:1350341) -chr17 80220286 80253501 17q25 17q25.3 610117 SLC26A11 Solute carrier family 26 (sulfate transporter), member 11 SLC26A11 284129 ENSG00000181045 Slc26a11 (MGI:2444589) -chr17 80260819 80398793 17q25 17q25.3 613768 RNF213, ALO17, KIAA1618, MYMY2 Ring finger protein 213 RNF213 57674 ENSG00000173821 {Moyamoya disease 2, susceptibility to}, 607151 (3), Autosomal dominant, Autosomal recessive Rnf213 (MGI:1289196) -chr17 80466833 80476606 17q25.1-q25.2 17q25.3 602367 NPTX1, NP1 Neuronal pentraxin 1 NPTX1 4884 ENSG00000171246 Nptx1 (MGI:107811) -chr17 80544837 80966367 17q25.3 17q25.3 607130 RPTOR, RAPTOR, KIAA1303 Regulatory-associated protein of MTOR RPTOR 57521 ENSG00000141564 Rptor (MGI:1921620) -chr17 80991840 81000132 17q25.3 17q25.3 610901 CHMP6 Charged multivesicular body protein 6 CHMP6 79643 ENSG00000176108 Chmp6 (MGI:3583942) -chr17 81035130 81117433 17q25 17q25.3 605475 BAIAP2, IRSP53 BAI1-associated protein 2 BAIAP2 10458 ENSG00000175866 Baiap2 (MGI:2137336) -chr17 81117294 81166220 17q25.3 17q25.3 605276 AATK, AATYK Apoptosis-associated tyrosine kinase AATK 9625 ENSG00000181409 Aatk (MGI:1197518) -chr17 81125882 81125948 17q25.3 17q25.3 614059 MIR338, MIRN338 Micro RNA 338 MIR338 442906 ENSG00000283604 Mir338 (MGI:3619352) -chr17 81189594 81222988 17q25.3 17q25.3 613479 AZI1, ZA1, KIAA1118 5-azacytidine-induced gene 1, mouse, homolog of CEP131 22994 ENSG00000141577 Cep131 (MGI:107440) -chr17 81239310 81241309 17q25.3 17q25.3 618461 NDUFAF8, C17orf89, MC1DN34 NADH dehydrogenase (ubiquinone) complex I, assembly factor 8 NDUFAF8 284184 ENSG00000224877 Mitochondrial complex I deficiency, nuclear type 34, 618776 (3), Autosomal recessive Ndufaf8 (MGI:1913676) -chr17 81244810 81295432 17q25.3 17q25.3 616525 SLC38A10 Solute carrier family 38 (amino acid transporter), member 10 SLC38A10 124565 ENSG00000157637 Slc38a10 (MGI:1919305) -chr17 81395430 81466330 17q25.3 17q25.3 617646 BAHCC1, BAHD2, KIAA1447 BAH domain- and coiled-coil domain-containing protein 1 BAHCC1 57597 ENSG00000266074 Bahcc1 (MGI:2679272) -chr17 81509970 81512798 17q25.3 17q25.3 102560 ACTG1, DFNA20, DFNA26, BRWS2 Actin, gamma-1 ACTG1 71 ENSG00000184009 Deafness, autosomal dominant 20/26, 604717 (3), Autosomal dominant; Baraitser-Winter syndrome 2, 614583 (3), Autosomal dominant Actg1 (MGI:87906) -chr17 81513018 81537129 17q25 17q25.3 607643 FSCN2, RFSN, RP30 Fascin, sea urchin, homolog of, 2 FSCN2 25794 ENSG00000186765 within 200kb of ACTG1 Retinitis pigmentosa 30, 607921 (3) Fscn2 (MGI:2443337) -chr17 81539890 81552398 17q25.3 17q25.3 611301 C17orf70, FAAP100 Chromosome 17 open reading frame 70 FAAP100 80233 ENSG00000185504 Faap100 (MGI:1919135) -chr17 81556884 81637147 17qter 17q25.3 606590 NPL4, KIAA1499 NPL4 homolog, ubiquitin recognition factor NPLOC4 55666 ENSG00000182446 Nploc4 (MGI:2679787) -chr17 81650458 81663126 17q25 17q25.3 180073 PDE6G, PDEG, RP57 Phosphodiesterase-6G, cGMP-specific, rod, gamma PDE6G 5148 ENSG00000185527 Retinitis pigmentosa 57, 613582 (3), Autosomal recessive Pde6g (MGI:97526) -chr17 81666696 81673906 17q25.3 17q25.3 614271 CCDC137 Coiled-coil domain-containing protein 137 CCDC137 339230 ENSG00000185298 Ccdc137 (MGI:1914541) -chr17 81681164 81683796 17q25.3 17q25.3 619117 ARL16 ADP ribosylation factor-like GTPase 16 ARL16 339231 ENSG00000214087 Arl16 (MGI:1917567) -chr17 81684010 81702120 17q25 17q25.3 604375 HGS, HRS Human growth factor-regulated tyrosine kinase substrate HGS 9146 ENSG00000185359 Hgs (MGI:104681) -chr17 81703366 81707516 17q25-qter 17q25.3 602375 MRPL12, RPML12 Ribosomal protein, mitochondrial, L12 MRPL12 6182 ENSG00000262814 mutation identified in 1 COXPD45 family ?Combined oxidative phosphorylation deficiency 45, 618951 (3), Autosomal recessive Mrpl12 (MGI:1926273) -chr17 81712283 81721011 17q25.3 17q25.3 606794 SLC25A10, DIC, MTDPS19 Solute carrier family 25 (mitochondrial carrier), member 10 (dicarboxylate ion carrier) SLC25A10 1468 ENSG00000183048 mutation identified in 1 MTDPS19 patient ?Mitochondrial DNA depletion syndrome 19, 618972 (3), Autosomal recessive Slc25a10 (MGI:1353497) -chr17 81804077 81814007 17q25 17q25.3 138033 GCGR, MVAH Glucagon receptor GCGR 2642 ENSG00000215644 Mahvash disease, 619290 (3), Autosomal recessive Gcgr (MGI:99572) -chr17 81822360 81833290 17q25.3 17q25.3 616514 FAM195B, MCRIP1 Family with sequence similarity 194, member B MCRIP1 348262 ENSG00000225663 Mcrip1 (MGI:2384752) -chr17 81843158 81860534 17q25 17q25.3 176790 P4HB, PROHB, CLCRP1 Procollagen-proline, 2-oxoglutarate-4-dioxygenase, beta polypeptide P4HB 5034 ENSG00000185624 Cole-Carpenter syndrome 1, 112240 (3), Autosomal dominant P4hb (MGI:97464) -chr17 81867718 81871336 17q25.3 17q25.3 601925 ARHGDIA, GDIA1, NPHS8 Rho GDP dissociation inhibitor (GDI) alpha ARHGDIA 396 ENSG00000141522 Nephrotic syndrome, type 8, 615244 (3), Autosomal recessive Arhgdia (MGI:2178103) -chr17 81887834 81891586 17q25.3 17q25.3 604171 ALYREF, THOC4, ALY, BEF ALY/REF export factor ALYREF 10189 ENSG00000183684 Alyref,Gm4340,Alyref2,Gm4312,Gm4302,Gm4307 (MGI:3782482,MGI:3782493,MGI:1913144,MGI:1341044,MGI:3782524,MGI:3782487) -chr17 81890789 81900532 17q25.3 17q25.3 614534 ANAPC11, APC11 Anaphase-promoting complex subunit 11 ANAPC11 51529 ENSG00000141552 Anapc11 (MGI:1913406) -chr17 81900957 81911431 17q25.3 17q25.3 602679 PCYT2, ET, SPG82 Phosphate cytidylyltransferase 2, ethanolamine PCYT2 5833 ENSG00000185813 Spastic paraplegia 82, autosomal recessive, 618770 (3), Autosomal recessive Pcyt2 (MGI:1915921) -chr17 81902237 81902904 17q25.3 17q25.3 607996 NPB, PPL7 Neuropeptide B NPB 256933 ENSG00000183979 Npb (MGI:2387153) -chr17 81911938 81918175 17q25.3 17q25.3 606212 SIRT7, SIR2L7 Sirtuin 7 (Sir2, S. cerevisiae, homolog of, 7) SIRT7 51547 ENSG00000187531 Sirt7 (MGI:2385849) -chr17 81918269 81927734 17q25 17q25.3 602020 MAFG MAF bZIP transcription factor G MAFG 4097 ENSG00000197063 Mafg (MGI:96911) -chr17 81932390 81937299 17q25.3 17q25.3 179035 PYCR1, PRO3, ARCL2B, ARCL3B Pyrroline-5-carboxylate reductase-1 PYCR1 5831 ENSG00000183010 Cutis laxa, autosomal recessive, type IIIB, 614438 (3); Cutis laxa, autosomal recessive, type IIB, 612940 (3), Autosomal recessive Pycr1 (MGI:2384795) -chr17 81952506 81961186 17q25.3 17q25.3 609847 NOTUM Notum, palmitoleoyl-protein carboxylesterase NOTUM 147111 ENSG00000185269 Notum (MGI:1924833) -chr17 81977549 82017668 17q25 17q25.3 606236 ASPSCR1, RCC17, ASPL, ASPS Alveolar soft-part sarcoma chromosome region, candidate 1 ASPSCR1 79058 ENSG00000169696 t(X;17)(p11.2;q25) Alveolar soft-part sarcoma, 606243 (3) Aspscr1 (MGI:1916188) -chr17 82018702 82022929 17q25.3 17q25.3 615128 CENPX, STRA13, CENPX, FAAP10, MHF2, D9 Centromeric protein X CENPX 201254 ENSG00000169689 Cenpx (MGI:894324) -chr17 82031677 82034203 17q25.3 17q25.3 602050 RAC3 Rac family small GTPase 3 RAC3 5881 ENSG00000169750 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 (3), Autosomal dominant Rac3 (MGI:2180784) -chr17 82035857 82037696 17q25.3 17q25.3 608347 DCXR, P34H, PNTSU Dicarbonyl/L-xylulose reductase DCXR 51181 ENSG00000169738 [Pentosuria], 260800 (3), Autosomal recessive Dcxr (MGI:1915130) -chr17 82047901 82051810 17q25 17q25.3 602578 RFNG Radical fringe RFNG 5986 ENSG00000169733 Rfng (MGI:894275) -chr17 82050931 82057469 17q25.3 17q25.3 601934 GPS1 G protein pathway suppressor 1 GPS1 2873 ENSG00000169727 Gps1 (MGI:2384801) -chr17 82078337 82098302 17q25 17q25.3 600212 FASN Fatty acid synthase FASN 2194 ENSG00000169710 Fasn (MGI:95485) -chr17 82217950 82240085 17q25.3 17q25.3 603877 SLC16A3, MCT4 Solute carrier family 16 (monocarboxylic acid transporter) member 3 SLC16A3 9123 ENSG00000141526 Slc16a3 (MGI:1933438) -chr17 82239018 82273749 17q25 17q25.3 600864 CSNK1D, ASPS, FASPS2 Casein kinase-1, delta CSNK1D 1453 ENSG00000141551 Advanced sleep-phase syndrome, familial, 2, 615224 (3), Autosomal dominant Csnk1d (MGI:1355272) -chr17 82314864 82320828 17q25.2-q25.3 17q25.3 186820 CD7 CD7 antigen (p41) CD7 924 ENSG00000173762 Cd7 (MGI:88344) -chr17 82321023 82333950 17q25.2-q25.3 17q25.3 602602 SECTM1, K12 Secreted and transmembrane 1 SECTM1 6398 ENSG00000141574 Sectm1a,Sectm1b (MGI:1929083,MGI:2384805) -chr17 82359246 82363775 17q25.3 17q25.3 615647 TEX19 Testis-expressed gene 19 TEX19 400629 ENSG00000182459 Tex19.2,Tex19.1 (MGI:1920929,MGI:1918206) -chr17 82371764 82377457 17q25.3 17q25.3 600896 GPR14, UTR2, UTR G protein-coupled receptor-14 (urotensin II receptor) UTS2R 2837 ENSG00000181408 Uts2r (MGI:2183450) -chr17 82418346 82442644 17q25.3 17q25.3 616864 HEXD Hexosaminidase D HEXD 284004 ENSG00000169660 Hexdc (MGI:3605542) -chr17 82442585 82450820 17q25.3 17q25.3 618334 CYBC1, EROS, C17orf62, CGD5 Cytochrome b(-254) chaperone 1 CYBC1 79415 ENSG00000178927 Chronic granulomatous disease 5, autosomal recessive, 618935 (3), Autosomal recessive Cybc1 (MGI:2384959) -chr17 82458197 82490536 17q25.3 17q25.3 605349 NARF, IOP2 Nuclear prelamin A recognition factor NARF 26502 ENSG00000141562 Narf (MGI:1914858) -chr17 82519731 82604601 17q25 17q25.3 147685 FOXK2, ILF1 Forkhead box K2 (interleukin enhancer-binding factor 1) FOXK2 3607 ENSG00000141568 Foxk2 (MGI:1916087) -chr17 82614561 82648529 17q25.3 17q25.3 609226 WDR45B, WIPI3, WDR45L, NEDSBAS WD repeat domain 45B WDR45B 56270 ENSG00000141580 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive Wdr45b (MGI:1914090) -chr17 82716705 82728016 17q25 17q25.3 611683 FN3KRP Fructosamine 3-kinase-related protein FN3KRP 79672 ENSG00000141560 Fn3krp (MGI:2679256) -chr17 82735614 82751195 17q25.3 17q25.3 608425 FN3K Fructosamine 3-kinase FN3K 64122 ENSG00000167363 Fn3k (MGI:1926834) -chr17 82752047 82945913 17q25 17q25.3 604649 TBCD, PEBAT Tubulin-specific chaperone D TBCD 6904 ENSG00000141556 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive Tbcd (MGI:1919686) -chr17 82829433 82840021 17q25.3 17q25.3 610226 ZNF750, FLJ13841 Zinc finger protein 750 ZNF750 79755 ENSG00000141579 Seborrhea-like dermatitis with psoriasiform elements, 610227 (3) Zfp750 (MGI:2442210) -chr17 82942148 83051844 17q25.3 17q25.3 615337 B3GNTL1 Beat-1,3-N-acetylglucosaminyltransferase-like 1 B3GNTL1 146712 ENSG00000175711 B3gntl1 (MGI:2441705) -chr17 83079608 83095121 17q25.3 17q25.3 616241 METRNL Meteorin-like protein METRNL 284207 ENSG00000176845 Metrnl (MGI:2384806) -chr17 0 83257441 Chr.17 138110 G6PDL Glucose-6-phosphate dehydrogenase-like -chr17 0 83257441 Chr.17 610064 ODS1 Opioid dependence, susceptibility to, 1 100188802 {Opioid dependence, susceptibility to, 1}, 610064 (2) -chr18 0 18500000 18p 146390 DEL18p, C18DELp Chromosome 18p deletion syndrome Chromosome 18p deletion syndrome, 146390 (4), Autosomal dominant -chr18 0 7200000 18p11.32-p11.31 609647 DFNB46 Deafness, neurosensory, autosomal recessive 46 449488 between D18S59 and D18S391 Deafness, autosomal recessive 46, 609647 (2), Autosomal recessive -chr18 0 18500000 18p 602124 DYT7 Dystonia-7 (torsion dystonia, adult-onset, focal) 1866 Dystonia-7, torsion, 602124 (2), Autosomal dominant -chr18 0 15400000 18pter-p11.21 131150 ERV1 Oncogene ERV1; endogenous retrovirus-1 -chr18 0 18500000 18p 125480 MAFD1, BPAD, MD1 Major affective disorder 1 4095 ?also 18q {Major affective disorder 1}, 125480 (2), Autosomal dominant -chr18 0 18500000 18p 603206 SCZD8 Schizophrenia susceptibility locus, chromosome 18-related 8806 {Schizophrenia}, 181500 (2), Autosomal dominant -chr18 0 18500000 18p 614290 TET18P Tetrasomy 18p Tetrasomy 18p, 614290 (4) -chr18 158556 214628 18p 18p11.32 607274 USP14, TGT Ubiquitin-specific protease 14 USP14 9097 ENSG00000101557 Usp14 (MGI:1928898) -chr18 214347 268046 18p11.32 18p11.32 606930 THOC1, HPR1 THO complex 1 (nuclear matrix protein p84) THOC1 9984 ENSG00000079134 Thoc1 (MGI:1919668) -chr18 316736 500700 18p11.32 18p11.32 607621 COLEC12, SRCL, CLP1 Collectin 12 COLEC12 81035 ENSG00000158270 Colec12 (MGI:2152907) -chr18 580379 582113 18p11.32 18p11.32 603187 CETN1, CEN1 Centrin-1 CETN1 1068 ENSG00000177143 Cetn1 (MGI:1347086) -chr18 596987 650297 18p11.3 18p11.32 616990 CLUL1 Clusterin-like protein 1 CLUL1 27098 ENSG00000079101 -chr18 657652 673577 18p11.32 18p11.32 188350 TYMS, TS, TMS Thymidylate synthase TYMS 7298 ENSG00000176890 <50 kb from YES1 Tyms (MGI:98878) -chr18 670317 712659 18p11.32 18p11.32 607427 ENOSF1, RTS Enolase superfamily member 1 ENOSF1 55556 ENSG00000132199 -chr18 721587 812845 18p11.3 18p11.32 164880 YES1 Oncogene YES-1 YES1 7525 ENSG00000176105 <50 kb from TYMS Yes1 (MGI:99147) -chr18 904383 912171 18p11 18p11.32 102980 ADCYAP1 Adenylate cyclase activating polypeptide-1 (pituitary) ADCYAP1 116 ENSG00000141433 Adcyap1 (MGI:105094) -chr18 2655725 2805016 18p11.32 18p11.32 614982 SMCHD1, KIAA0650, BAMS Structural maintenance of chromosomes flexible hinge domain-containing protein 1 SMCHD1 23347 ENSG00000101596 Bosma arhinia microphthalmia syndrome, 603457 (3), Autosomal dominant; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3), Digenic dominant Smchd1 (MGI:1921605) -chr18 2900000 15400000 18p11.3-p11.2 104000 AA1 Alopecia areata 1 100034700 max lod at D18S967 Alopecia areata 1, 104000 (2), Multifactorial -chr18 2900000 7200000 18p11.3 614343 MRT19 Mental retardation, autosomal recessive 19 100852395 between rs4606805 and rs1787846 Mental retardation, autosomal recessive 19, 614343 (2), Autosomal recessive -chr18 2900000 7200000 18p11.31 160700 MYP2 Myopia, high grade, autosomal dominant 1 4658 Myopia 2, 160700 (2), Autosomal dominant -chr18 2900000 7200000 18p11.3 612353 POROK6, DSAP4 Porokeratosis 6 100196911 between telomere and D18S391 Porokeratosis 6, multiple types, 612353 (2), Autosomal dominant -chr18 2916993 3013200 18p 18p11.31 605519 LPIN2 Lipin 2 LPIN2 9663 ENSG00000101577 Majeed syndrome, 609628 (3) Lpin2 (MGI:1891341) -chr18 3066806 3220107 18p11.31 18p11.31 603508 MYOM1, SKELEMIN Myomesin 1 MYOM1 8736 ENSG00000101605 Myom1 (MGI:1341430) -chr18 3262132 3278460 18p11.31 18p11.31 609211 MYL12B, MRLC2 Myosin, light chain 12B, regulatory MYL12B 103910 ENSG00000118680 Myl12b (MGI:107494) -chr18 3412008 3459977 18p11.3 18p11.31 602630 TGIF1, HPE4 TG-interacting factor 1 TGIF1 7050 ENSG00000177426 Holoprosencephaly 4, 142946 (3), Autosomal dominant Tgif1 (MGI:1194497) -chr18 3496031 4455440 18p11.31 18p11.31 605445 DLGAP1, DAP1, DLGAP1A, DLGAP1B Discs large-associated protein 1 DLGAP1 9229 ENSG00000170579 Dlgap1 (MGI:1346065) -chr18 5142910 5197690 18p11.31 18p11.31 616427 C18orf42 Chromosome 18 open reading frame 42 AKAIN1 642597 ENSG00000231824 Akain1 (MGI:2444600) -chr18 5289018 5297052 18p11.21 18p11.31 602126 ZFP161, ZF5 Zinc finger protein-161 ZBTB14 7541 ENSG00000198081 Zbtb14 (MGI:1195345) -chr18 5392385 5630662 18p11.3 18p11.31 605331 EPB41L3, DAL1 Erythrocyte membrane protein band 4.1-like 3 EPB41L3 23136 ENSG00000082397 Epb41l3 (MGI:103008) -chr18 5954702 6415258 18p11.31 18p11.31 617135 L3MBTL4 L3MBTL histone methyl-lysine-binding protein 4 L3MBTL4 91133 ENSG00000154655 L3mbtl4 (MGI:2444889) -chr18 6729715 6915715 18p11.31 18p11.31 610592 ARHGAP28, KIAA1314 RHO GTPase-activating protein 28 ARHGAP28 79822 ENSG00000088756 Arhgap28 (MGI:2147003) -chr18 6941741 7117796 18p11.31 18p11.31 150320 LAMA1, PTBHS Laminin, alpha-1 LAMA1 284217 ENSG00000101680 Poretti-Boltshauser syndrome, 615960 (3), Autosomal recessive Lama1 (MGI:99892) -chr18 7200000 39500000 18p11.23-q12.2 107200 ANIC Anosmia, isolated congenital 550625 max lod at D18S1108 Anosmia, isolated congenital, 107200 (2), Autosomal dominant -chr18 7200000 8500000 18p11.23 612410 PSORS10 Psoriasis susceptibility 10 503613 between D18S63 and D18S967 {Psoriasis susceptibility 10}, 612410 (2) -chr18 7567315 8406858 18p11.2 18p11.23 176888 PTPRM, PTPRL1, RPTPM Protein tyrosine phosphatase, receptor type, mu polypeptide PTPRM 5797 ENSG00000173482 Ptprm (MGI:102694) -chr18 8609427 8639382 18p11.22 18p11.22 616448 RAB12 Ras-associated protein RAB12 RAB12 201475 ENSG00000206418 Rab12 (MGI:894284) -chr18 8695855 8707620 18p11.22 18p11.22 616131 GACAT2, MTCL1AS1 Gastric cancer-associated transcript 2, noncoding GACAT2 100287082 ENSG00000265962 -chr18 8705555 8832777 18p11.22 18p11.22 615766 MTCL1, KIAA0802 Microtubule crosslinking factor 1 MTCL1 23255 ENSG00000168502 Mtcl1 (MGI:1915867) -chr18 9102641 9134340 18p11.31-p11.2 18p11.22 600532 NDUFV2, MC1DN7 NADH-ubiquinone oxidoreductase core subunit V2 NDUFV2 4729 ENSG00000178127 pseudogene on 19q13.3-qter Mitochondrial complex I deficiency, nuclear type 7, 618229 (3), Autosomal recessive Ndufv2 (MGI:1920150) -chr18 9136766 9285984 18p11.22 18p11.22 610616 ANKRD12, ANCO1, KIAA0874 Ankyrin repeat domain-containing protein 12 ANKRD12 23253 ENSG00000101745 Ankrd12 (MGI:1914357) -chr18 9334772 9402419 18p11.3-p11.2 18p11.22 605049 TWSG1, TSG Twisted gastrulation, Drosophila, homolog of TWSG1 57045 ENSG00000128791 Twsg1 (MGI:2137520) -chr18 9475512 9538113 18p11 18p11.22 605801 RALBP1, RLIP76 RALA-binding protein 1 RALBP1 10928 ENSG00000017797 Ralbp1 (MGI:108466) -chr18 9546793 9615272 18p11.22 18p11.22 604908 PPP4R1, PP4R1 Protein phosphatase 4, regulatory subunit 1 PPP4R1 9989 ENSG00000154845 Ppp4r1 (MGI:1917601) -chr18 9708186 9862550 18p11.3 18p11.22 605694 RAB31 Ras-associated protein RAB31 RAB31 11031 ENSG00000168461 Rab31 (MGI:1914603) -chr18 9885972 9889274 18p11.22 18p11.22 617790 TXNDC2, SPTRX1 Thioredoxin domain-containing protein 2 TXNDC2 84203 ENSG00000168454 Txndc2 (MGI:2389312) -chr18 9914015 9960020 18p11.22 18p11.22 605703 VAPA, VAP33 VAMP-associated protein A VAPA 9218 ENSG00000101558 Vapa (MGI:1353561) -chr18 10454634 10489948 18p11 18p11.22 607479 APCDD1, HHS, HYPT1, HTS Adenomatosis polyposis coli down-regulated 1 APCDD1 147495 ENSG00000154856 Hypotrichosis 1, 605389 (3), Autosomal dominant Apcdd1 (MGI:3513977) -chr18 10526026 10552768 18p11.22 18p11.22 603216 NAPG NSF attachment protein, gamma NAPG 8774 ENSG00000134265 Napg (MGI:104561) -chr18 10670236 11149584 18p11.22 18p11.22-p11.21 613629 PIEZO2, FAM38B, DA5, DA3, MWKS, DAIPT PIEZO-type mechanosensitive ion channel component 2 PIEZO2 63895 ENSG00000154864 mutation identified in 1 MWKS patient Arthrogryposis, distal, type 5, 108145 (3), Autosomal dominant; Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive; Arthrogryposis, distal, type 3, 114300 (3), Autosomal dominant; ?Marden-Walker syndrome, 248700 (3), Autosomal dominant Piezo2 (MGI:1918781) -chr18 10900000 15400000 18p11.2 606616 DYX6, DYXQTL18 Dyslexia, susceptibility to, 6 266691 {Dyslexia, susceptibility to, 6}, 606616 (2) -chr18 10900000 15400000 18p11.2 609253 FEB6 Febrile seizures, familial, 6 619397 max lod at D18S1158 Febrile seizures, familial, 6, 609253 (2), Autosomal dominant -chr18 11689014 11885684 18p11.21 18p11.21 139312 GNAL, DYT25 Guanine nucleotide-binding protein, alpha-subunit, olfactory type GNAL 2774 ENSG00000141404 Dystonia 25, 615073 (3), Autosomal dominant Gnal (MGI:95774) -chr18 11851412 11854443 18p11 18p11.21 606486 CHMP1B, C10orf2 Charged multivesicular body protein 1B CHMP1B 57132 ENSG00000255112 2610002M06Rik,Chmp1b (MGI:1914314,MGI:1914278) -chr18 11882621 11908660 18p11.2 18p11.21 611900 MPPE1 Metallophosphoesterase 1 MPPE1 65258 ENSG00000154889 Mppe1 (MGI:2661311) -chr18 11981464 12030877 18p11.2 18p11.21 605922 IMPA2 Myo-inositol monophosphatase 2 IMPA2 3613 ENSG00000141401 Impa2 (MGI:2149728) -chr18 12254360 12277594 18p11.21 18p11.21 604440 CIDEA Cell death-inducing DFFA-like effector A CIDEA 1149 ENSG00000176194 Cidea (MGI:1270845) -chr18 12307668 12329825 18p11.21 18p11.21 615103 TUBB6, FPVEPD Tubulin, beta-6 TUBB6 84617 ENSG00000176014 mutation identified in 1 FPVEPD family ?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3), Autosomal dominant Tubb6 (MGI:1915201) -chr18 12328943 12377308 18p11 18p11.21 604581 AFG3L2, SCA28, SPAX5, OPA12 AFG3-like matrix AAA peptidase, subunit 2 AFG3L2 10939 ENSG00000141385 Spastic ataxia 5, autosomal recessive, 614487 (3), Autosomal recessive; Optic atrophy 12, 618977 (3), Autosomal dominant; Spinocerebellar ataxia 28, 610246 (3), Autosomal dominant Afg3l2 (MGI:1916847) -chr18 12407928 12432237 18p11.21 18p11.21 616545 PRELID3A, SLMO1, C18orf43 PRELI domain-containing protein 3A PRELID3A 10650 ENSG00000141391 Prelid3a (MGI:2442865) -chr18 12446511 12662090 18p11.21 18p11.21 609216 SPIRE1, KIAA1135 Spire-type actin nucleation factor 1 SPIRE1 56907 ENSG00000134278 Spire1 (MGI:1915416) -chr18 12658737 12725739 18p11.21 18p11.21 609702 PSMG2, TNFSF5IP1, HCCA3, CLAST3, PAC2, PRAAS4 Proteasome (prosome, macropain) assembly chaperone 1 PSMG2 56984 ENSG00000128789 mutation identified in 1 PRAAS4 patient ?Proteasome-associated autoinflammatory syndrome 4, 619183 (3), Autosomal recessive Psmg2 (MGI:1922901) -chr18 12785477 12884350 18p11.3-p11.2 18p11.21 176887 PTPN2, PTPT Protein tyrosine phosphatase, nonreceptor-type, 2 PTPN2 5771 ENSG00000175354 Ptpn2 (MGI:97806) -chr18 12947987 12987664 18p11.21 18p11.21 609263 SEH1L, SEH1, SEC13L Seh1-like protein SEH1L 81929 ENSG00000085415 Seh1l (MGI:1919374) -chr18 12991300 13125052 18p11.21 18p11.21 616426 CEP192, PPP1R62, KIAA1569 Centrosomal protein, 192kD CEP192 55125 ENSG00000101639 Cep192 (MGI:1918049) -chr18 13217605 13652753 18p11.2 18p11.21 606571 C18orf1 Chromosome 18 open reading frame 1 LDLRAD4 753 ENSG00000168675 Ldlrad4 (MGI:1277150) -chr18 13663346 13726557 18p11.21 18p11.21 617975 FAM210A, C18orf19 Family with sequence similarity 210, member A FAM210A 125228 ENSG00000177150 Fam210a (MGI:1914000) -chr18 13726644 13764555 18p11.23-p11.22 18p11.21 603514 RNMT, MET RNA guanine-7-methyltransferase RNMT 8731 ENSG00000101654 Rnmt (MGI:1915147) -chr18 13824148 13827322 18p11.2 18p11.21 600042 MC5R Melanocortin-5 receptor MC5R 4161 ENSG00000176136 Mc5r (MGI:99420) -chr18 13882041 13915706 18p11.2 18p11.21 607397 MC2R Melanocortin-2 receptor (ACTH receptor) MC2R 4158 ENSG00000185231 Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3), Autosomal recessive Mc2r (MGI:96928) -chr18 14748171 14855464 18p11.21 18p11.21 616565 ANKRD30B Ankyrin repeat domain-containing protein 30B ANKRD30B 374860 ENSG00000180777 -chr18 15400000 18500000 18p11 607488 DYT15 Dystonia-15, myoclonic 317714 Dystonia-15, myoclonic, 607488 (2), Autosomal dominant -chr18 15400000 18500000 18p11 612354 IBD21 Inflammatory bowel disease 21 100192312 associated with rs2542151 {Inflammatory bowel disease 21}, 612354 (2), Autosomal dominant -chr18 18500000 80373285 18q 601808 DEL18q Chromosome 18q deletion syndrome Chromosome 18q deletion syndrome, 601808 (4), Autosomal dominant -chr18 18500000 80373285 18q 143850 OHDS Orthostatic hypotensive disorder of Streeten 50948 Orthostatic hypotensive disorder of Streeten, 143850 (2), Autosomal dominant -chr18 20946905 21111812 18q11.1 18q11.1 601702 ROCK1 RHO-associated coiled-coil-containing protein kinase 1 ROCK1 6093 ENSG00000067900 Rock1 (MGI:107927) -chr18 21242224 21528502 18q11.1 18q11.1-q11.2 617782 GREB1L, C18orf6, KIAA1772, RHDA3, DFNA80 GREB1-like retinoic acid receptor coactivator GREB1L 80000 ENSG00000141449 Deafness, autosomal dominant 80, 619274 (3), Autosomal dominant; Renal hypodysplasia/aplasia 3, 617805 (3), Autosomal dominant Greb1l (MGI:3576497) -chr18 21500000 39500000 18q11.2-q12.2 613930 APMR3 Alopecia-mental retardation syndrome 3 100653369 between D18S866 and D18S811 Alopecia-mental retardation syndrome 3, 613930 (2), Autosomal recessive -chr18 21529280 21600735 18q11.2 18q11.2 609674 ESCO1, ECO1, CTF, ESO1, EFO1, KIAA1911 Establishment of sister chromatid cohesion N-acetyltransferase 1 ESCO1 114799 ENSG00000141446 Esco1 (MGI:1925055) -chr18 21612313 21633519 18q11.2 18q11.2 601063 SNRPD1 Small nuclear ribonucleoprotein polypeptide D1 SNRPD1 6632 ENSG00000167088 Snrpd1 (MGI:98344) -chr18 21650900 21704792 18q11.1 18q11.2 612197 ABHD3, LABH3 Abhydrolase domain-containing 3, phospholipase ABHD3 171586 ENSG00000158201 Abhd3 (MGI:2147183) -chr18 21740791 21870952 18q11.2 18q11.2 608677 MIB1, MIB, DIP1, KIAA1323, LVNC7 Mindbomb E3 ubiquitin protein ligase 1 MIB1 57534 ENSG00000101752 Left ventricular noncompaction 7, 615092 (3), Autosomal dominant Mib1 (MGI:2443157) -chr18 21825697 21825784 18q11.2 18q11.2 610254 MIR133A1 Micro RNA 133A1 MIR133A1 406922 ENSG00000283927 Mir133a-1 (MGI:2676818) -chr18 21829003 21829087 18q11.2 18q11.2 610252 MIR1-2 Micro RNA 1-2 MIR1-2 406905 ENSG00000284453 Mir1a-2 (MGI:3618746) -chr18 22169588 22202527 18q11.1-q11.2 18q11.2 601656 GATA6, AVSD5, ASD9, PACHD GATA-binding protein-6 GATA6 2627 ENSG00000141448 Atrial septal defect 9, 614475 (3), Autosomal dominant; Persistent truncus arteriosus, 217095 (3); Pancreatic agenesis and congenital heart defects, 600001 (3), Autosomal dominant; Atrioventricular septal defect 5, 614474 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant Gata6 (MGI:107516) -chr18 22413598 22417914 18q11.2 18q11.2 608856 CTAGE1 Cutaneous T-cell lymphoma-associated antigen 1 CTAGE1 64693 ENSG00000212710 Mia2 (MGI:2159614) -chr18 22914120 23026485 18q11.2 18q11.2 604124 RBBP8, RIM, SCKL2, JWDS Retinoblastoma-binding protein 8 RBBP8 5932 ENSG00000101773 Seckel syndrome 2, 606744 (3), Autosomal recessive; Jawad syndrome, 251255 (3), Autosomal recessive; Pancreatic carcinoma, somatic (3) Rbbp8 (MGI:2442995) -chr18 23237251 23437968 18q11.2 18q11.2 615430 TMEM241, C18orf45 Transmembrane protein 241 TMEM241 85019 ENSG00000134490 Tmem241 (MGI:2442435) -chr18 23452822 23483139 18q11.2 18q11.2 603579 RIOK3, SUDD RIO kinase 3 RIOK3 8780 ENSG00000101782 Riok3 (MGI:1914128) -chr18 23506183 23586505 18q11-q12 18q11.2 607623 NPC1, NPC NPC intracellular cholesterol transporter 1 NPC1 4864 ENSG00000141458 some families not linked to 18; type D prob. allelic Niemann-Pick disease, type C1, 257220 (3), Autosomal recessive; Niemann-Pick disease, type D, 257220 (3), Autosomal recessive Npc1 (MGI:1097712) -chr18 23689442 23955065 18q11.2 18q11.2 600805 LAMA3, LOCS Laminin, alpha-3 (nicein, 150kD; kalinin, 165kD; BM600, 150kD; epiligrin) LAMA3 3909 ENSG00000053747 Laryngoonychocutaneous syndrome, 245660 (3), Autosomal recessive; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Epidermolysis bullosa, generalized atrophic benign, 226650 (3), Autosomal recessive Lama3 (MGI:99909) -chr18 24138955 24161599 18q12.2 18q11.2 612135 CABYR, FSP2 Calcium-binding tyrosine phosphorylation-regulated protein CABYR 26256 ENSG00000154040 Cabyr (MGI:1918382) -chr18 24162044 24397881 18q11-q12 18q11.2 606730 OSBPL1A, ORP1 Oxysterol-binding protein-like protein 1A OSBPL1A 114876 ENSG00000141447 Osbpl1a (MGI:1927551) -chr18 24426669 24453530 18q11.2-q12.1 18q11.2 615319 IMPACT Impact RWD domain protein IMPACT 55364 ENSG00000154059 Impact (MGI:1098233) -chr18 24460636 24479973 18q11.2 18q11.2 606792 HRH4, HH4R Histamine receptor H4 HRH4 59340 ENSG00000134489 Hrh4 (MGI:2429635) -chr18 25061923 25352193 18q11.2 18q11.2 610974 ZNF521, EHZF, EVI3 Zinc finger protein 521 ZNF521 25925 ENSG00000198795 Zfp521 (MGI:95459) -chr18 26016252 26091218 18q11.2 18q11.2 600192 SS18, SSXT, SYT Synovial sarcoma translocation, chromosome 18 SS18 6760 ENSG00000141380 5' SYST/3' SSRC in t(X;18) Sarcoma, synovial (1) Ss18 (MGI:107708) -chr18 26133868 26193354 18q11.2 18q11.2 617841 PSMA8, PSMA7L Proteasome subunit, alpha-type, 8 PSMA8 143471 ENSG00000154611 Psma8 (MGI:1920927) -chr18 26226444 26391684 18q11.2 18q11.2 601689 TAF4B, TAF2C2, TAFII105, SPGF13 TAF4b RNA polymerase II, TATA box-binding protein-associated factor, 105kD TAF4B 6875 ENSG00000141384 mutation identified in 1 SPGF13 family ?Spermatogenic failure 13, 615841 (3), Autosomal recessive Taf4b (MGI:2152345) -chr18 26454909 26657472 18q11.2 18q11.2 613420 KCTD1, SENS Potassium channel tetramerization domain-containing 1 KCTD1 284252 ENSG00000134504 Scalp-ear-nipple syndrome, 181270 (3), Autosomal dominant Kctd1 (MGI:1918269) -chr18 26687620 26703637 18q11.2 18q11.2 617647 PCAT18, LINC01092 Prostate cancer-associated transcript 18, noncoding PCAT18 728606 ENSG00000265369 -chr18 26852037 26865802 18q11.2-q12.1 18q11.2 600308 AQP4, MIWC Aquaporin-4 AQP4 361 ENSG00000171885 Aqp4 (MGI:107387) -chr18 26906480 27185363 18q11.2 18q11.2 610191 CHST9, GalNAc4ST2 Carbohydrate sulfotransferase 9 CHST9 83539 ENSG00000154080 Chst9 (MGI:1918617) -chr18 27500000 35100000 18q12.1 610209 MGR11 Migraine with or without aura, susceptibility to, 11 117204003 {Migraine with or without aura, susceptibility to, 11}, 610209 (2), Autosomal dominant -chr18 27932877 28177129 18q11.2 18q12.1 114020 CDH2, NCAD, ARVD14, ACOGS Cadherin 2 (cadherin, neuronal type; N-cadherin) CDH2 1000 ENSG00000170558 Arrhythmogenic right ventricular dysplasia, familial, 14, 618920 (3), Autosomal dominant; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, 618929 (3), Autosomal dominant Cdh2 (MGI:88355) -chr18 30989364 31042741 18q12.1 18q12.1 600271 DSC3, DSC4 Desmocollin-3 DSC3 1825 ENSG00000134762 Hypotrichosis and recurrent skin vesicles, 613102 (3), Autosomal recessive Dsc3 (MGI:1194993) -chr18 31058839 31102420 18q12.1 18q12.1 125645 DSC2, DSC3, ARVD11 Desmocollin-2 DSC2 1824 ENSG00000134755 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3), Autosomal dominant, Autosomal recessive; Arrhythmogenic right ventricular dysplasia 11, 610476 (3), Autosomal dominant, Autosomal recessive Dsc2 (MGI:103221) -chr18 31129235 31162855 18q12.1 18q12.1 125643 DSC1 Desmocollin-1 DSC1 1823 ENSG00000134765 Dsc1 (MGI:109173) -chr18 31318159 31359245 18q12.1-q12.2 18q12.1 125670 DSG1, PPKS1, SPPK1, EPKHE Desmoglein-1 DSG1 1828 ENSG00000134760 pemphigus foliaceous antigen Keratosis palmoplantaris striata I, AD, 148700 (3), Autosomal dominant; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3), Autosomal recessive Dsg1a,Dsg1b,Dsg1c (MGI:94930,MGI:2664357,MGI:2664358) -chr18 31376776 31415790 18q12 18q12.1 607892 DSG4, LAH, HYPT6 Desmoglein 4 DSG4 147409 ENSG00000175065 Hypotrichosis 6, 607903 (3), Autosomal recessive Dsg4 (MGI:2661061) -chr18 31447740 31478711 18q12.1-q12.2 18q12.1 169615 DSG3, ABOLM Desmoglein-3 (pemphigus vulgaris antigen) DSG3 1830 ENSG00000134757 Blistering, acantholytic, of oral and laryngeal mucosa, 619226 (3), Autosomal recessive Dsg3 (MGI:99499) -chr18 31498176 31549007 18q12.1-q12.2 18q12.1 125671 DSG2, ARVD10, ARVC10, CMD1BB Desmoglein-2 DSG2 1829 ENSG00000046604 Cardiomyopathy, dilated, 1BB, 612877 (3); Arrhythmogenic right ventricular dysplasia 10, 610193 (3), Autosomal dominant Dsg2 (MGI:1196466) -chr18 31591876 31598820 18q11.2-q12.1 18q12.1 176300 TTR, PALB Transthyretin (prealbumin) TTR 7276 ENSG00000118271 Amyloidosis, hereditary, transthyretin-related, 105210 (3), Autosomal dominant; Carpal tunnel syndrome, familial, 115430 (3), Autosomal dominant; [Dystransthyretinemic hyperthyroxinemia], 145680 (3), Autosomal dominant Ttr (MGI:98865) -chr18 31622245 31724669 18q11 18q12.1 604017 B4GALT6 Beta-1,4-galactosyltransferase 6 B4GALT6 9331 ENSG00000118276 B4galt6 (MGI:1928380) -chr18 31759583 31760879 18q12.1 18q12.1 616153 SLC25A52, MCART2 Solute carrier family 25, member 52 SLC25A52 147407 ENSG00000141437 Slc25a51 (MGI:2684984) -chr18 31829196 31943127 18q12.1 18q12.1 614136 TRAPPC8, KIAA1012 Trafficking protein particle complex, subunit 8 TRAPPC8 22878 ENSG00000153339 Trappc8 (MGI:2443008) -chr18 32018584 32090755 18q12.1 18q12.1 610432 RNF125, TRAC1, TNORS RING finger protein 125 RNF125 54941 ENSG00000101695 Tenorio syndrome, 616260 (3), Autosomal dominant Rnf125 (MGI:1914914) -chr18 32091857 32131560 18q12.1 18q12.1 616319 RNF138, NARF RING finger protein 138 RNF138 51444 ENSG00000134758 Rnf138,Rnf138rt1 (MGI:1929211,MGI:1921514) -chr18 32190038 32222606 18q12.2-q12.3 18q12.1 600389 MEP1B Meprin A, beta MEP1B 4225 ENSG00000141434 Mep1b (MGI:96964) -chr18 32263520 32470881 18q12.1 18q12.1 617998 GAREM1 GRB2-associated regulator of MAPK1, subtype 1 GAREM1 64762 ENSG00000141441 Garem1 (MGI:2685790) -chr18 32672672 32773022 18q12.1 18q12.1 613772 KLHL14, PRINTOR, KIAA1384 Kelch-like 14 KLHL14 57565 ENSG00000197705 Klhl14 (MGI:1921249) -chr18 33578218 33751194 18q12.1 18q12.1 615115 ASXL3, KIAA1713, BRPS ASXL transcriptional regulator 3 ASXL3 80816 ENSG00000141431 Bainbridge-Ropers syndrome, 615485 (3), Autosomal dominant Asxl3 (MGI:2685175) -chr18 33851099 34224956 18q12.1 18q12.1 603577 NOL4, NOLP Nucleolar protein 4 NOL4 8715 ENSG00000101746 Nol4 (MGI:2441684) -chr18 34493297 34891843 18q12.1-q12.2 18q12.1 601239 DTNA, D18S892E, DRP3, LVNC1 Dystobrevin, alpha (dystrophin-related protein 3) DTNA 1837 ENSG00000134769 Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3), Autosomal dominant Dtna (MGI:106039) -chr18 34977026 35143469 18q12 18q12.1-q12.2 605789 MAPRE2, EB2, RP1, CSCSC2 Microtubule-associated protein, RP/EB family, member 2 MAPRE2 10982 ENSG00000166974 Symmetric circumferential skin creases, congenital, 2, 616734 (3), Autosomal dominant Mapre2 (MGI:106271) -chr18 35100000 45900000 18q12.2-q12.3 605293 OPA4 Optic atrophy 4 58156 Optic atrophy 4, 605293 (2) -chr18 35240703 35259226 18q12 18q12.2 609601 ZNF397 Zinc finger protein-397 ZNF397 84307 ENSG00000186812 Zfp397 (MGI:1916506) -chr18 35332226 35344419 18q12 18q12.2 194534 ZNF24 Zinc finger protein-24 (KOX17) ZNF24 7572 ENSG00000172466 Zfp24 (MGI:1929704) -chr18 35366693 35377336 18q12 18q12.2 609600 ZNF396 Zinc finger protein-396 ZNF396 252884 ENSG00000186496 -chr18 35580921 35711833 18q12.1 18q12.2 602273 GALNT1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 GALNT1 2589 ENSG00000141429 Galnt1 (MGI:894693) -chr18 35904817 35904925 18q12.2 18q12.2 612698 MIR187, MIRN187 Micro RNA 187 MIR187 406963 ENSG00000207797 Mir187 (MGI:2676851) -chr18 35982384 36067575 18q12 18q12.2 610347 RPRD1A, P15RS, FLJ10656 Regulation of nuclear pre-mRNA domain-containing protein 1A RPRD1A 55197 ENSG00000141425 Rprd1a (MGI:2385066) -chr18 36108530 36129867 18q12.2 18q12.2 608731 SLC39A6, LIV1, ZIP6 Solute carrier family 39 (zinc transporter), member 6 SLC39A6 25800 ENSG00000141424 Slc39a6 (MGI:2147279) -chr18 36129898 36180556 18q12.2 18q12.2 616054 ELP2, STATIP1, MRT58 Elongator acetyltransferase complex, subunit 2 ELP2 55250 ENSG00000134759 Mental retardation, autosomal recessive 58, 617270 (3), Autosomal recessive Elp2 (MGI:1889642) -chr18 36187496 36272156 18q12.2 18q12.2 613274 MOCOS, MCS, XAN2 Molybdenum cofactor sulfurase MOCOS 55034 ENSG00000075643 Xanthinuria, type II, 603592 (3), Autosomal recessive Mocos (MGI:1915841) -chr18 36297712 36780219 18q12.2 18q12.2 609691 FHOD3, FHOS2, KIAA1695, CMH28 Formin homology-2 domain-containing protein 3 FHOD3 80206 ENSG00000134775 Cardiomyopathy, familial hypertrophic, 28, 619402 (3), Autosomal dominant Fhod3 (MGI:1925847) -chr18 36828816 37232171 18q12.2 18q12.2 616480 KIAA1328, HINDERIN Hinderin KIAA1328 57536 ENSG00000150477 AW554918 (MGI:2147376) -chr18 37243039 37565797 18q12 18q12.2 612679 CELF4, BRUNOL4 CUGbp- and ELAV-like family, member 4 CELF4 56853 ENSG00000101489 Celf4 (MGI:1932407) -chr18 39500000 45900000 18q12.3 614319 VUR6 Vesicoureteral reflux 6 100820763 closest marker rs1054986 Vesicoureteral reflux 6, 614319 (2) -chr18 39500000 45900000 18q12 604754 ZNF271P, ZNFEB, ZNF271 Zinc finger protein 271, pseudogene ZNF271P 10778 ENSG00000257267 -chr18 41955225 42087829 18q12.3 18q12.3 602609 PIK3C3 Phosphatidylinositol 3-kinase, class 3 PIK3C3 5289 ENSG00000078142 Pik3c3 (MGI:2445019) -chr18 42743226 43115684 18q12.3 18q12.3 609592 RIT2, RIN, ROC2 Ric-like protein without CAAX motif 2 RIT2 6014 ENSG00000152214 Rit2 (MGI:108054) -chr18 43267891 43277489 18q12.3 18q12.3 600103 SYT4 Synaptotagmin-4 SYT4 6860 ENSG00000132872 Syt4 (MGI:101759) -chr18 44680071 45068509 18q12.31 18q12.3 611060 SETBP1, KIAA0437, SEB, MRD29 SET-binding protein 1 SETBP1 26040 ENSG00000152217 fused with NUP98 in ALL Schinzel-Giedion midface retraction syndrome, 269150 (3), Autosomal dominant; Mental retardation, autosomal dominant 29, 616078 (3), Autosomal dominant Setbp1 (MGI:1933199) -chr18 45167962 45683687 18q12.1-q21.1 18q12.3 601611 SLC14A2, UT2, UTR Solute carrier family 14 (urea transporter), member 2 SLC14A2 8170 ENSG00000132874 Slc14a2 (MGI:1351653) -chr18 45724126 45752519 18q11-q12 18q12.3 613868 SLC14A1, JK, UTE, UT1 Solute carrier family 14 (urea transporter), member 1 (Kidd blood group) SLC14A1 6563 ENSG00000141469 previous suggestion of chr.7 or chr.2 [Blood group, Kidd], 111000 (3) Slc14a1 (MGI:1351654) -chr18 45800585 45967338 18q12.3-q21.1 18q12.3-q21.1 615068 EPG5, KIAA1632, HEEW1, VICIS Ectopic P-granules autophagy protein 5 homolog EPG5 57724 ENSG00000152223 Vici syndrome, 242840 (3), Autosomal recessive Epg5 (MGI:1918673) -chr18 45825674 45844093 18q12.3 18q12.3 618105 SIGLEC15 Sialic acid-binding immunoglobulin-like lectin 15 SIGLEC15 284266 ENSG00000197046 Siglec15 (MGI:3646642) -chr18 45900000 63900000 18q21.1-q21.3 600624 CORD1, CRD1 Cone rod dystrophy 1, autosomal dominant 1319 Cone-rod retinal dystrophy-1, 600624 (2), Autosomal dominant -chr18 45983535 46072326 18q21.1 18q21.1 616046 PSTPIP2, MAYP Proline/serine/threonine phosphatase-interacting protein 2 PSTPIP2 9050 ENSG00000152229 Pstpip2 (MGI:1335088) -chr18 46080247 46104226 18q21.1 18q21.1 164360 ATP5F1A, ATP5A1, ATPM, ATP5A, ORM, MC5DN4, COXPD22 ATP synthase F1, alpha subunit ATP5F1A 498 ENSG00000152234 pseudogenes on chr. 2, chr. 9, and chr.16; mutation identified in 1 MC5DN4 family and 1 COXPD22 family ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3), Autosomal recessive; ?Combined oxidative phosphorylation deficiency 22, 616045 (3), Autosomal recessive Atp5a1 (MGI:88115) -chr18 46104384 46128332 18q21.1 18q21.1 608775 HAUS1, CCDC5, HEIC HAUS augmin-like complex, subunit 1 HAUS1 115106 ENSG00000152240 pseudogenes on 5, 8, and X Haus1 (MGI:2385076) -chr18 46476960 46657219 18q12-q21 18q21.1 613072 LOXHD1, DFNB77 Lipoxygenase homology domains-containing 1 LOXHD1 125336 ENSG00000167210 Deafness, autosomal recessive 77, 613079 (3), Autosomal recessive Loxhd1 (MGI:1914609) -chr18 46667820 46757052 18q21.1 18q21.1 607162 SIAT8E Sialyltransferase 8E ST8SIA5 29906 ENSG00000101638 St8sia5 (MGI:109243) -chr18 46803217 46920166 18q21.1 18q21.1 603567 PIAS2, PIASX Protein inhibitor of activated STAT2 PIAS2 9063 ENSG00000078043 Pias2 (MGI:1096566) -chr18 46917549 47104794 18q21.1 18q21.1 614697 KATNAL2 Katanin, p60 subunit, A-like protein 2 KATNAL2 83473 ENSG00000167216 Katnal2 (MGI:1924234) -chr18 47032526 47035620 18q21.1 18q21.1 609522 ELOA2, TCEB3B Elongin A2 ELOA2 51224 ENSG00000206181 Eloa (MGI:1351315) -chr18 47152833 47176363 18q21.1 18q21.1 609382 IER3IP1, MEDS Immediate-early response 3-interacting protein 1 IER3IP1 51124 ENSG00000134049 Microcephaly, epilepsy, and diabetes syndrome, 614231 (3), Autosomal recessive Ier3ip1 (MGI:1913441) -chr18 47206168 47251659 18q21.1 18q21.1 617138 SKOR2, FUSSEL18, CORL2 SKI family transcriptional corepressor 2 SKOR2 652991 ENSG00000215474 Skor2 (MGI:3645984) -chr18 47808956 47931187 18q21 18q21.1 601366 MADH2, JV18, SMAD2 Mothers against decapentaplegic, Drosophila, homolog of, 2 SMAD2 4087 ENSG00000175387 Smad2 (MGI:108051) -chr18 48026671 48412638 18q21 18q21.1 616591 ZBTB7C, APM1 Zinc finger- and BTB domain-containing protein 7C ZBTB7C 201501 ENSG00000184828 Zbtb7c (MGI:2443302) -chr18 48539030 48863216 18q21.1 18q21.1 613178 CTIF, KIAA0427 CAP-binding complex-dependent translation initiation factor CTIF 9811 ENSG00000134030 Ctif (MGI:2685518) -chr18 48919852 48950964 18q21.1 18q21.1 602932 SMAD7, MADH7, CRCS3 SMAD family member 7 SMAD7 4092 ENSG00000101665 {Colorectal cancer, susceptibility to, 3}, 612229 (3) Smad7 (MGI:1100518) -chr18 49036386 49460708 18q12-q21.1 18q21.1 607461 DYM, FLJ90130, DMC, SMC Dymeclin DYM 54808 ENSG00000141627 Smith-McCort dysplasia, 607326 (3), Autosomal recessive; Dyggve-Melchior-Clausen disease, 223800 (3), Autosomal recessive Dym (MGI:1918480) -chr18 49488480 49492464 18q 18q21.1 603661 RPL17 Ribosomal protein L17 RPL17 6139 ENSG00000265681 Rpl17 (MGI:2448270) -chr18 49560698 49599184 18q21.1 18q21.1 603684 LIPG, EL, EDL Lipase G, endothelial LIPG 9388 ENSG00000101670 Lipg (MGI:1341803) -chr18 49782163 49813532 18q21.1 18q21.1 604770 ACAA2 Acetyl-CoA acyltransferase 2 ACAA2 10449 ENSG00000167315 Acaa2 (MGI:1098623) -chr18 49814022 49814442 18q21.1 18q21.1 615645 SCARNA17 Small Cajal body-specific RNA 17 SCARNA17 677769 ENSG00000267322 -chr18 49822788 50195146 18q21 18q21.1 606540 MYO5B, KIAA1119, DIAR2, MVID1 Myosin VB MYO5B 4645 ENSG00000167306 Diarrhea 2, with microvillus atrophy, 251850 (3), Autosomal recessive Myo5b (MGI:106598) -chr18 50227192 50266494 18q21.1 18q21.1 614759 CCDC11, HTX6 Coiled-coil domain-containing protein 11 CFAP53 220136 ENSG00000172361 Heterotaxy, visceral, 6, autosomal recessive, 614779 (3), Autosomal recessive Cfap53 (MGI:1921703) -chr18 50266881 50281766 18q21.1 18q21.1 156535 MBD1, PCM1 Methyl=CpG binding domain protein 1 (protein containing methyl-CpG binding domain 1) MBD1 4152 ENSG00000141644 Mbd1 (MGI:1333811) -chr18 50375045 50394167 18q21.1 18q21.1 616673 SKA1, C18orf24 Spindle- and kinetochore-associated complex, subunit 1 SKA1 220134 ENSG00000154839 Ska1 (MGI:1913718) -chr18 50559771 50731825 18q12-q21 18q21.1-q21.2 176949 MAPK4, PRKM4, ERK3 Mitogen-activated protein kinase 4 MAPK4 5596 ENSG00000141639 Mapk4 (MGI:2444559) -chr18 50700000 56200000 18q21.2 611014 HYT8 Hypertension, essential, susceptibility to, 8 100188321 associated with rs1941958 and rs1893379 {Hypertension, essential, susceptibility to, 8}, 611014 (2) -chr18 50795129 50825412 18q21 18q21.2 608080 MRO, B29 Maestro MRO 83876 ENSG00000134042 Mro (MGI:2152817) -chr18 50878701 50954256 18q21 18q21.2 154270 ME2 Malic enzyme, mitochondrial ME2 4200 ENSG00000082212 10cM distal to F13A; previously mapped to chr.6 Me2 (MGI:2147351) -chr18 50968039 50988120 18q21 18q21.2 608079 ELAC1, D29 elaC ribonuclease Z 1 ELAC1 55520 ENSG00000141642 Elac1 (MGI:1890495) -chr18 51030212 51085041 18q21.1 18q21.2 600993 SMAD4, MADH4, DPC4, JIP, MYHRS SMAD family member 4 SMAD4 4089 ENSG00000141646 Pancreatic cancer, somatic, 260350 (3); Myhre syndrome, 139210 (3), Autosomal dominant; Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3), Autosomal dominant Smad4 (MGI:894293) -chr18 51174549 51197680 18q21.2 18q21.2 611005 MEX3C, RKHD2 Mex-3, C. elegans, homolog of, C MEX3C 51320 ENSG00000176624 Mex3c (MGI:2652843) -chr18 52340171 53535898 18q21.3 18q21.2 120470 DCC, MRMV1, HGPPS2 Deleted in colorectal carcinoma DCC 1630 ENSG00000187323 Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3), Autosomal dominant; Esophageal carcinoma, somatic, 133239 (3); Colorectal cancer, somatic, 114500 (3); Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3), Autosomal recessive Dcc (MGI:94869) -chr18 54151605 54224668 18q21 18q21.2 603547 MBD2 Methyl-CpG-binding domain protein 2 MBD2 8932 ENSG00000134046 Mbd2 (MGI:1333813) -chr18 54269478 54321265 18q21.1 18q21.2 605252 POLI, RAD30B Polymerase, DNA, iota POLI 11201 ENSG00000101751 Poli (MGI:1347081) -chr18 54324491 54357857 18q21 18q21.2 607051 STARD6 Start domain-containing protein 6 STARD6 147323 ENSG00000174448 Stard6 (MGI:2156774) -chr18 54357905 54382034 18q21 18q21.2 613258 C18orf54, LAS2 Chromosome 18 open reading frame 54 C18orf54 162681 ENSG00000166845 4930503L19Rik (MGI:1922045) -chr18 54532712 54599543 18q21.2 18q21.2 619421 DYNAP, C18orf26 Dynactin-associated protein DYNAP 284254 ENSG00000178690 Dynap (MGI:1922827) -chr18 54717841 54895515 18q21.2 18q21.2 603869 RAB27B RAS-associated protein RAB27B RAB27B 5874 ENSG00000041353 Rab27b (MGI:1931295) -chr18 54901508 54959538 18q21.2 18q21.2 616909 CCDC68 Coiled-coil domain-containing protein 68 CCDC68 80323 ENSG00000166510 Ccdc68 (MGI:3612676) -chr18 55222184 55635956 18q21.2 18q21.2 602272 TCF4, SEF2, ITF2, PTHS, FECD3 Transcription factor-4 (immunoglobulin transcription factor-2) TCF4 6925 ENSG00000196628 Pitt-Hopkins syndrome, 610954 (3), Autosomal dominant; Corneal dystrophy, Fuchs endothelial, 3, 613267 (3), Autosomal dominant Tcf4 (MGI:98506) -chr18 56597208 56638634 18q21.31 18q21.31 603049 TXNL1, TXNL Thioredoxin-like 1 TXNL1 9352 ENSG00000091164 Txnl1 (MGI:1860078) -chr18 56651358 57029797 18q21.3 18q21.31 613473 WDR7, TRAG, KIAA0541 WD repeat-containing protein 7 WDR7 23335 ENSG00000091157 Wdr7 (MGI:1860197) -chr18 57054558 57072118 18q21.2 18q21.31 615173 LINC-ROR Long intergenic noncoding RNA, regulator of reprogramming LINC-ROR 100885779 ENSG00000258609 -chr18 57352556 57368930 18q21.31 18q21.31 609478 ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 ST8SIA3 51046 ENSG00000177511 St8sia3 (MGI:106019) -chr18 57435373 57491297 18q21.1-q21.2 18q21.31 604894 ONECUT2, OC2 One cut domain, family member 2 ONECUT2 9480 ENSG00000119547 Onecut2 (MGI:1891408) -chr18 57544376 57586707 18q21.3 18q21.31 612386 FECH, FCE, EPP1 Ferrochelatase FECH 2235 ENSG00000066926 Protoporphyria, erythropoietic, 1, 177000 (3), Autosomal recessive Fech (MGI:95513) -chr18 57600655 57621835 18q21.1-q21.3 18q21.31 108410 NARS1, NARS, ASNRS, NEDMILG, NEDMILEG Asparaginyl-tRNA synthetase 1 NARS1 4677 ENSG00000134440 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, 619092 (3); Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, 619091 (3), Autosomal recessive Nars (MGI:1917473) -chr18 57646425 57803821 18q21 18q21.31 602397 ATP8B1, FIC1, BRIC, PFIC1, ICP1 ATPase, class I, type 8B, member 1 ATP8B1 5205 ENSG00000081923 Cholestasis, progressive familial intrahepatic 1, 211600 (3), Autosomal recessive; Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3), Autosomal dominant; Cholestasis, benign recurrent intrahepatic, 243300 (3), Autosomal recessive Atp8b1 (MGI:1859665) -chr18 58044225 58401539 18q21 18q21.31 606384 NEDD4L, KIAA0439, RSP5, PVNH7 Ubiquitin protein ligase NEDD4-like NEDD4L 23327 ENSG00000049759 Periventricular nodular heterotopia 7, 617201 (3), Autosomal dominant Nedd4l (MGI:1933754) -chr18 58451073 58451157 18q21 18q21.31 609582 MIR122A, MIRN122A Micro RNA 122A MIR122 406906 ENSG00000284440 Mir122 (MGI:2676805) -chr18 58671419 58754476 18q21 18q21.32 604860 MALT1, MLT, IMD12 MALT1 paracaspase MALT1 10892 ENSG00000172175 fused with API2 in MALT lymphoma Immunodeficiency 12, 615468 (3), Autosomal recessive Malt1 (MGI:2445027) -chr18 58862599 58986479 18q21.32 18q21.32 619066 ZNF532 Zinc finger protein 532 ZNF532 55205 ENSG00000074657 Zfp532 (MGI:3036282) -chr18 59219187 59230770 18q21 18q21.32 137260 GRP Gastrin-releasing peptide GRP 2922 ENSG00000134443 mammalian equivalent of bombesin Grp (MGI:95833) -chr18 59267037 59273453 18q21.3 18q21.32 601881 RAX, RX, MCOP3 Retina and anterior neural fold homeobox gene RAX 30062 ENSG00000134438 Microphthalmia, isolated 3, 611038 (3), Autosomal recessive Rax (MGI:109632) -chr18 59295401 59318648 18q21.32 18q21.32 609586 CPLX4 Complexin 4 CPLX4 339302 ENSG00000166569 Cplx4 (MGI:2685803) -chr18 59327822 59359264 18q21.3-q22 18q21.32 601567 LMAN1, ERGIC53, F5F8D, MCFD1 Lectin, mannose-binding, 1 LMAN1 3998 ENSG00000074695 Combined factor V and VIII deficiency, 227300 (3), Autosomal recessive Lman1 (MGI:1917611) -chr18 59430938 59698180 18q21.32 18q21.32 612753 CCBE1, KIAA1983, HKLLS1 Collagen and calcium-binding EGF domain-containing protein 1 CCBE1 147372 ENSG00000183287 Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3), Autosomal recessive Ccbe1 (MGI:2445053) -chr18 59899995 59904304 18q21.32 18q21.32 604959 PMAIP1, APR, NOXA Phorbol-12-myristate-13-acetate-induced protein 1 PMAIP1 5366 ENSG00000141682 Pmaip1 (MGI:1930146) -chr18 60371061 60372774 18q22 18q21.32 155541 MC4R, BMIQ20 Melanocortin-4 receptor MC4R 4160 ENSG00000166603 Obesity (BMIQ20), 618406 (3), Autosomal dominant, Autosomal recessive; {Obesity, resistance to (BMIQ20)}, 618406 (3), Autosomal dominant, Autosomal recessive Mc4r (MGI:99457) -chr18 61300000 63900000 18q21 606640 ALS3 Amyotrophic lateral sclerosis 3 253 Amyotrophic lateral sclerosis 3, 606640 (2), Autosomal dominant -chr18 61300000 63900000 18q21.3 212200 CNSN Carnosinemia (carnosinase) 8173 Carnosinemia, 212200 (2), Autosomal recessive -chr18 61300000 63900000 18q21 601941 IDDM6 Insulin-dependent diabetes mellitus-6 3405 {Diabetes mellitus, insulin-dependent, 6}, 601941 (2) -chr18 61300000 63900000 18q21 182090 SSAV1 Simian sarcoma-associated virus-1/Gibbon ape leukemia virus 6739 -chr18 61333429 61555778 18q22-q23 18q21.33 605807 CDH20 Cadherin 20 CDH20 28316 ENSG00000101542 Cdh20 (MGI:1346069) -chr18 61808066 61894419 18q21.33 18q21.33 616512 RNF152 Ring finger protein 152 RNF152 220441 ENSG00000176641 Rnf152 (MGI:2443787) -chr18 62041163 62187117 18q21.33 18q21.33 606097 PIGN, MCAHS1 Phosphatidylinositol glycan, class N PIGN 23556 ENSG00000197563 Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3), Autosomal recessive Pign (MGI:1351629) -chr18 62187254 62310248 18q21.33 18q21.33 618001 RELCH, KIAA1468 RAB11 effector containing LIS1 homology domain, coiled-coil domains, and HEAT repeats RELCH 57614 ENSG00000134444 Relch (MGI:1922832) -chr18 62325309 62391287 18q22.1 18q21.33 603499 TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2 Tumor necrosis factor receptor superfamily, member 11A TNFRSF11A 8792 ENSG00000141655 Osteopetrosis, autosomal recessive 7, 612301 (3), Autosomal recessive; {Paget disease of bone 2, early-onset}, 602080 (3), Autosomal dominant; Osteolysis, familial expansile, 174810 (3), Autosomal dominant Tnfrsf11a (MGI:1314891) -chr18 62715444 62980432 18q21.33 18q21.33 609396 PHLPP1, SCOP, KIAA0606 PH domain and leucine-rich repeat protein phosphatase PHLPP1 23239 ENSG00000081913 Phlpp1 (MGI:2138327) -chr18 63123345 63320279 18q21.3 18q21.33 151430 BCL2 B-cell CLL/lymphoma-2 BCL2 596 ENSG00000171791 most frequent hematologic malignancy t(14;18)(q32;q21) Leukemia/lymphoma, B-cell, 2 (3) Bcl2 (MGI:88138) -chr18 63327725 63367233 18q21.3 18q21.33 136440 KDSR, FVT1, EKVP4 3-ketodihydrosphingosine reductase KDSR 2531 ENSG00000119537 ~10kb 5' to BCL2 Erythrokeratodermia variabilis et progressiva 4, 617526 (3), Autosomal recessive Kdsr (MGI:1918000) -chr18 63389189 63422494 18q21.3 18q21.33 609983 VPS4B, SKD1 Vacuolar protein sorting 4 homolog B VPS4B 9525 ENSG00000119541 Vps4b (MGI:1100499) -chr18 63476957 63505084 18q21.3 18q21.33 154790 PI5, SERPINB5 Protease inhibitor 5 (maspin) SERPINB5 5268 ENSG00000206075 in cluster of serpins Serpinb5 (MGI:109579) -chr18 63519163 63569328 18q21.3 18q21.33 615662 SERPINB12 Serpin peptidase inhibitor, clade (ovalbumin), member 12 SERPINB12 89777 ENSG00000166634 Serpinb12 (MGI:1919119) -chr18 63586653 63599191 18q21.3 18q21.33 604445 SERPINB13, PI13, HURPIN Protease inhibitor 13 SERPINB13 5275 ENSG00000197641 Serpinb13 (MGI:3042250) -chr18 63637258 63644309 18q21.3 18q21.33 600518 SERPINB4, SCCA2 Serpin peptidase inhibitor, clade B (ovalbumin), member 4 (squamous cell carcinoma antigen 2) SERPINB4 6318 ENSG00000206073 Serpinb3d,Serpinb3b,Serpinb3c,Serpinb3a (MGI:2683293,MGI:3573933,MGI:2683295,MGI:1277952) -chr18 63655196 63661892 18q21.3 18q21.33 600517 SERPINB3, SCCA1 Serpin peptidase inhibitor, clade B (ovalbumin), member 3 (squamous cell carcinoma antigen 1) SERPINB3 6317 ENSG00000057149 Serpinb3d,Serpinb3b,Serpinb3c,Serpinb3a (MGI:2683293,MGI:3573933,MGI:2683295,MGI:1277952) -chr18 63702303 63723892 18q21.3 18q21.33 615682 SERPINB11 Serpin peptidase inhibitor, clade B (ovalbumin), member 11 SERPINB11 89778 ENSG00000206072 Serpinb11 (MGI:1914207) -chr18 63753056 63805369 18q21.3 18q21.33 603357 SERPINB7, MEGSIN, PPKN Serpin peptidase inhibitor, clade B (ovalbumin), member 7 SERPINB7 8710 ENSG00000166396 Palmoplantar keratoderma, Nagashima type, 615598 (3), Autosomal recessive Serpinb7 (MGI:2151053) -chr18 63887704 63903889 18q21.3 18q21.3-q22.1 173390 SERPINB2, PAI2, PLANH2 Serpin peptidase inhibitor, clade B (ovalbumin), member 2 (Plasminogen activator inhibitor, type II (arginine-serpin)) SERPINB2 5055 ENSG00000197632 600kb telomeric to BCL2 Serpinb2 (MGI:97609) -chr18 63900000 75400000 18q22.1-q22.3 602401 ECTD8 Ectodermal dysplasia 8, hair/tooth/nail type 101101768 between D18S857 and D18S815 Ectodermal dysplasia 8, hair/tooth/nail type, 602401 (2), Autosomal recessive -chr18 63907957 63936110 18q21.3 18q22.1 602058 SERPINB10, PI10 Protease inhibitor 10, ovalbumin type (bomapin) SERPINB10 5273 ENSG00000242550 Serpinb10 (MGI:2138648) -chr18 63949258 63969328 18q21.3 18q22.1 612086 HMSD Minor histocompatibility antigen, serpin domain-containing HMSD 284293 ENSG00000221887 -chr18 63970080 64019778 18q21.3 18q22.1 601697 SERPINB8, PI8, CAP2, PSS5 Serpin family B, member 8 SERPINB8 5271 ENSG00000166401 Peeling skin syndrome 5, 617115 (3), Autosomal recessive Serpinb8 (MGI:894657) -chr18 64080008 64149025 18q22.1 18q22.1 617489 LINC00305 Long intergenic noncoding RNA 305 LINC00305 221241 ENSG00000179676 -chr18 65750251 65890336 18q22-q23 18q22.1 605806 CDH7 Cadherin-7 CDH7 1005 ENSG00000081138 Cdh7 (MGI:2442792) -chr18 66501082 66604240 18q22-q23 18q22.1 603016 CDH19, CDH7 Cadherin 19 CDH19 28513 ENSG00000071991 Cdh19 (MGI:3588198) -chr18 67506586 67516719 18q21-q22 18q22.1 611125 DSEL, C18orf4, NCAG1 Dermatan sulfate epimerase-like DSEL 92126 ENSG00000171451 Dsel (MGI:2442948) -chr18 68673687 68715111 18q22.1 18q22.1 616102 TMX3, TXNDC10, KIAA1830 Thioredoxin-related transmembrane protein 3 TMX3 54495 ENSG00000166479 Tmx3 (MGI:2442418) -chr18 69400887 69849086 18q22.2 18q22.2 611402 DOK6 Docking protein 6 DOK6 220164 ENSG00000206052 Dok6 (MGI:3639495) -chr18 69853273 69962085 18q22.3 18q22.2 605397 DNAM1, CD226 DNAX accessory molecule 1 CD226 10666 ENSG00000150637 Cd226 (MGI:3039602) -chr18 70003030 70205725 18q22.2 18q22.2 610436 RTTN, MSSP Rotatin RTTN 25914 ENSG00000176225 Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3), Autosomal recessive Rttn (MGI:2179288) -chr18 70289044 70330198 18q21.1 18q22.2 605118 SOCS6, SSI4, STAT4, CIS4 Suppressor of cytokine signaling 6 SOCS6 9306 ENSG00000170677 Socs6 (MGI:1924885) -chr18 71000000 75400000 18q22 609334 DUP18pDEL18q, DUP18qDEL18p Chromosome 18 pericentric inversion Chromosome 18 pericentric inversion, 609334 (4) -chr18 72533719 72638484 18q22.3 18q22.3 600433 CBLN2 Cerebellin 2 precursor CBLN2 147381 ENSG00000141668 Cbln2 (MGI:88282) -chr18 72742313 72867986 18q22-q23 18q22.3 607973 NETO1, BCTL1 Neuropilin and tolloid like 1 NETO1 81832 ENSG00000166342 Neto1 (MGI:2180216) -chr18 74073342 74147833 18q22.3 18q22.3 609093 FBXO15, FBX15 F-box only protein 15 FBXO15 201456 ENSG00000141665 Fbxo15 (MGI:1354755) -chr18 74148516 74160530 18q22.3 18q22.3 615180 TIMM21, TIM21 Translocase of inner mitochondrial membrane 21 TIMM21 29090 ENSG00000075336 Timm21 (MGI:1920595) -chr18 74250845 74291979 18q23 18q22.3 613218 CYB5A, MCB5, METAG Cytochrome b5 CYB5A 1528 ENSG00000166347 pseudogenes on X, 14q, 20p; mutation identified in 1 MET5 patient Methemoglobinemia and ambiguous genitalia, 250790 (3), Autosomal recessive Cyb5a (MGI:1926952) -chr18 74434774 74464645 18q22.3 18q22.3 614544 FAM69C Family with sequence similarity 69, member C DIPK1C 125704 ENSG00000187773 Dipk1c (MGI:3041188) -chr18 74496362 74523453 18q23 18q22.3 169800 CNDP2, PEPA, CN2 Carnosine dipeptidase 2 CNDP2 55748 ENSG00000133313 Cndp2 (MGI:1913304) -chr18 74534499 74587211 18q22.3 18q22.3 609064 CNDP1, CN1 Carnosine dipeptidase 1 CNDP1 84735 ENSG00000150656 Cndp1 (MGI:2451097) -chr18 74590474 75065670 18q22.3 18q22.3 615894 ZNF407 Zinc finger protein 407 ZNF407 55628 ENSG00000215421 Zfp407 (MGI:2685179) -chr18 75210796 75289945 18q22.3 18q22.3 614427 TSHZ1, TSH1, CAA Teashirt zinc finger homeobox 1 TSHZ1 10194 ENSG00000179981 Aural atresia, congenital, 607842 (3), Autosomal dominant Tshz1 (MGI:1346031) -chr18 76357681 76495254 18q23 18q23 615114 ZNF516, KIAA0222 Zinc finger protein 516 ZNF516 9658 ENSG00000101493 Zfp516 (MGI:2443957) -chr18 76822549 76972900 18q22-q23 18q23 604760 ZNF236 Zinc finger protein-236 ZNF236 7776 ENSG00000130856 Zfp236 (MGI:1926950) -chr18 76978832 77133707 18q22-qter 18q23 159430 MBP Myelin basic protein MBP 4155 ENSG00000197971 defective in "shiverer," neurologic mutant in mouse Mbp (MGI:96925) -chr18 77249847 77277899 18q23 18q23 600377 GALR1, GALNR1, GALNR Galanin receptor 1 GALR1 2587 ENSG00000166573 Galr1 (MGI:1096364) -chr18 78979817 78998968 18q23 18q23 605079 SALL3 Sal-like 3 SALL3 27164 ENSG00000256463 Sall3 (MGI:109295) -chr18 79069284 79378390 18q22.3-qter 18q23 614446 ATP9B ATPase, class II, type 9B ATP9B 374868 ENSG00000166377 Atp9b (MGI:1354757) -chr18 79395929 79529322 18q23 18q23 600489 NFATC1 Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 1 NFATC1 4772 ENSG00000131196 Nfatc1 (MGI:102469) -chr18 79679802 79756624 18q23 18q23 604927 CTDP1, FCP1, CCFDN C-terminal domain of RNA polymerase II subunit A, phosphatase of, subunit 1 CTDP1 9150 ENSG00000060069 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3), Autosomal recessive Ctdp1 (MGI:1926953) -chr18 79797937 79903511 18q23 18q23 605696 KCNG2 Potassium channel, voltage-gated, subfamily G, member 2 KCNG2 26251 ENSG00000178342 Kcng2 (MGI:3694646) -chr18 79970812 80033935 18q23 18q23 611595 TXNL4A, DIM1, BMKS Thioredoxin-like 4A TXNL4A 10907 ENSG00000141759 Burn-McKeown syndrome, 608572 (3), Autosomal recessive Txnl4a (MGI:1351613) -chr18 80109250 80140345 18q23 18q23 617422 ADNP2, KIAA0863 Activity-dependent neuroprotector homeobox 2 ADNP2 22850 ENSG00000101544 Adnp2 (MGI:2448562) -chr18 80157231 80247513 18q23 18q23 608976 PARD6G partitioning-defective protein 6, C. elegans, homolog of PARD6G 84552 ENSG00000178184 Pard6g (MGI:2135606) -chr19 0 12600000 19p13.3-p13.2 108725 ATHS, ALP Atherosclerosis susceptibility (lipoprotein associated) 470 closely linked to LDLR; may be LDLR {Atherosclerosis, susceptibility to}, 108725 (2), Autosomal dominant -chr19 0 58617616 19pter-q13 120050 CXB3S Coxsackie virus B3 sensitivity 1526 -chr19 0 26200000 19p 600209 EXT3 Exostoses, multiple, 3 2133 Exostoses, multiple, type 3, 600209 (2), Autosomal dominant -chr19 0 6900000 19p13.3 602477 FEB2 Febrile seizures, familial, 2 2234 Febrile seizures, familial, 2, 602477 (2), Autosomal dominant -chr19 0 19900000 19pter-p13.1 614233 FPH1, MUH, HPP Hyperpigmentation, familial progressive, 1 Hyperpigmentation, familial progressive, 1, 614233 (2) -chr19 0 6900000 19p13.3 181800 IS1, AIS Adolescent idiopathic scoliosis 260402 Scoliosis, idiopathic 1, 181800 (2), Autosomal dominant -chr19 0 6900000 19p13.3 605305 KIR2DL5A, KIR2DL5 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A KIR2DL5A 57292 -chr19 0 6900000 19p13.3 601846 MDRV Muscular dystrophy with rimmed vacuoles 4195 Muscular dystrophy with rimmed vacuoles, 601846 (2), Autosomal dominant -chr19 281042 291412 19p13.3 19p13.3 607126 PLPP2, PPAP2C Phospholipid phosphatase 2 PLPP2 8612 ENSG00000141934 Plpp2 (MGI:1354945) -chr19 361746 376692 19p13.3 19p13.3 609503 THEG Testicular haploid expressed gene, mouse, homolog of THEG 51298 ENSG00000105549 Theg (MGI:1338756) -chr19 405434 409146 19p13.3 19p13.3 610336 C2CD4C, NLF3, KIAA1957 C2 calcium-dependent domain containing 4C C2CD4C 126567 ENSG00000183186 C2cd4c (MGI:2685084) -chr19 416588 461032 19p13.3 19p13.3 605217 SHC2, SHCB, SCK SHC transforming protein 2 SHC2 25759 ENSG00000129946 Shc2 (MGI:106180) -chr19 496485 505342 19p13.3 19p13.3 102670 MACAM1 Mucosal addressin cell adhesion molecule-1 MADCAM1 8174 ENSG00000099866 Madcam1 (MGI:103579) -chr19 531719 542087 19p13.3 19p13.3 116948 CDC34 Cell division cycle 34 CDC34 997 ENSG00000099804 Cdc34 (MGI:102657) -chr19 544052 549921 19p13.3 19p13.3 600311 GZMM Granzyme M (lymphocyte met-ase 1) GZMM 3004 ENSG00000197540 Gzmm (MGI:99549) -chr19 571282 583492 19p13.3 19p13.3 109480 BSG Basigin (blood group OK) BSG 682 ENSG00000172270 [Blood group, OK], 111380 (3) Bsg (MGI:88208) -chr19 589880 617158 19p13.3 19p13.3 602781 HCN2, BCNG2 Hyperpolarization-activated cyclic nucleotide-gated potassium channel 2 HCN2 610 ENSG00000099822 Hcn2 (MGI:1298210) -chr19 617220 633556 19p13.3 19p13.3 601778 POLRMT, APOLMT Polymerase (RNA) mitochondrial (DNA directed) POLRMT 5442 ENSG00000099821 Polrmt (MGI:1915843) -chr19 639878 644372 19p13.3 19p13.3 605831 FGF22 Fibroblast growth factor 22 FGF22 27006 ENSG00000070388 Fgf22 (MGI:1914362) -chr19 647525 663213 19p13.3 19p13.3 615177 RNF126 RING finger protein 126 RNF126 55658 ENSG00000070423 Rnf126 (MGI:1917544) -chr19 676391 683384 19p13 19p13.3 605343 FSTL3, FLRG Follistatin-like 3 FSTL3 10272 ENSG00000070404 Fstl3 (MGI:1890391) -chr19 708934 748328 19p13.3 19p13.3 608134 PALM, KIAA0270 Paralemmin PALM 5064 ENSG00000099864 Palm (MGI:1261814) -chr19 748412 764317 19p13.3 19p13.3 615289 MISP, C19orf21 Mitotic spindle-positioning protein MISP 126353 ENSG00000099812 Misp (MGI:1926156) -chr19 797451 812315 19p13.3 19p13.3 600693 PTBP1, PTB, HNRNPI Polypyrimidine tract-binding protein 1 PTBP1 5725 ENSG00000011304 pseudogene on chr. 14 Ptbp1 (MGI:97791) -chr19 810965 824243 19p13.3 19p13.3 610391 PLPPR3, LPPR3, LPR3, PRG2 Phospholipid phosphatase-related protein 3 PLPPR3 79948 ENSG00000129951 Plppr3 (MGI:2388640) -chr19 827836 832017 19p13.3 19p13.3 162815 AZU1, CAP37 Azurocidin-1 (cationic antimicrobial protein-37) AZU1 566 ENSG00000172232 5\(rm-AZU1-8kb-PR3-3kb-ELAN-3' -chr19 840964 848174 19p13.3 19p13.3 177020 PRTN3, AGP7 Proteinase 3 PRTN3 5657 ENSG00000196415 Prtn3 (MGI:893580) -chr19 850996 856249 19p13.3 19p13.3 130130 ELANE, ELA2, SCN1 Elastase, neutrophil-expressed ELANE 1991 ENSG00000197561 Neutropenia, cyclic, 162800 (3), Autosomal dominant; Neutropenia, severe congenital 1, autosomal dominant, 202700 (3), Autosomal dominant Elane (MGI:2679229) -chr19 859663 863640 19p13.3 19p13.3 134350 CFD, ADN Complement factor D CFD 1675 ENSG00000197766 Complement factor D deficiency, 613912 (3), Autosomal recessive Cfd (MGI:87931) -chr19 867960 893227 19p13.3 19p13.3 604062 MED16, THRAP5, DRIP92, TRAP95 Mediator complex subunit 16 MED16 10025 ENSG00000175221 Med16 (MGI:2158394) -chr19 916692 921004 19p13.3 19p13.3 604161 KISS1R, GPR54, HH8, CPPB1 KISS1 receptor KISS1R 84634 ENSG00000116014 mutation identified in 1 CPPB1 patient Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3), Autosomal recessive; ?Precocious puberty, central, 1, 176400 (3), Autosomal dominant Kiss1r (MGI:2148793) -chr19 925732 975938 19p13.3 19p13.3 603265 DRIL1 Dead ringer, Drosophila, homolog-like 1 ARID3A 1820 ENSG00000116017 Arid3a (MGI:1328360) -chr19 1000418 1009747 19p13.3 19p13.3 606651 GRIN3B Glutamate receptor, ionotropic, N-methyl-D-aspartate 3B GRIN3B 116444 ENSG00000116032 Grin3b (MGI:2150393) -chr19 1009650 1021141 19p13.3 19p13.3 611011 TMEM259, C19orf6 Transmembrane protein 259 (membralin) TMEM259 91304 ENSG00000182087 Tmem259 (MGI:2177957) -chr19 1026607 1039064 19p13.3 19p13.3 602373 CNN2 Calonin 2 CNN2 1265 ENSG00000064666 previously assigned to 21q11.1 Cnn2 (MGI:105093) -chr19 1040106 1065571 19p13.3 19p13.3 605414 ABCA7, ABCX, AD9 ATP-binding cassette, subfamily A, member 7 ABCA7 10347 ENSG00000064687 {Alzheimer disease 9, susceptibility to}, 608907 (3), Autosomal dominant Abca7 (MGI:1351646) -chr19 1065958 1086627 19p13.3 19p13.3 601155 HMHA1, HLA-HA1, KIAA0223 Minor histocompatibility antigen HA-1 ARHGAP45 23526 ENSG00000180448 Arhgap45 (MGI:1917969) -chr19 1086573 1095386 19p13.3 19p13.3 180664 POLR2E Polymerase (RNA) II (DNA directed) polypeptide E, 25kD POLR2E 5434 ENSG00000099817 Polr2e (MGI:1913670) -chr19 1103993 1106778 19p13.3 19p13.3 138322 GPX4, SMDS Glutathione peroxidase-4 (phospholipid hydroperoxidase) GPX4 2879 ENSG00000167468 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3), Autosomal recessive Gpx4 (MGI:104767) -chr19 1107636 1174267 19p13.3 19p13.3 615729 SBNO2, KIAA0963 Strawberry notch, Drosophila, homolog of, 2 SBNO2 22904 ENSG00000064932 Sbno2 (MGI:2448490) -chr19 1205777 1228430 19p13.3 19p13.3 602216 STK11, PJS, LKB1 Serine/threonine protein kinase-11 STK11 6794 ENSG00000118046 Melanoma, malignant, somatic, 155600 (3); Pancreatic cancer, somatic, 260350 (3); Peutz-Jeghers syndrome, 175200 (3), Autosomal dominant; Testicular tumor, somatic, 273300 (3) Stk11 (MGI:1341870) -chr19 1241750 1244824 19p13.3 19p13.3 603150 ATP5F1D, ATP5D, MC5DN5 ATP synthase F1 subunit delta ATP5F1D 513 ENSG00000099624 Mitochondrial complex V (ATP synthase) deficiency, 618120 (3), Autosomal recessive Atp5d (MGI:1913293) -chr19 1248551 1259142 19p13.3 19p13.3 606700 MIDN Midnolin, mouse, homolog of MIDN 90007 ENSG00000167470 Midn (MGI:1890222) -chr19 1269331 1274879 19p13.3 19p13.3 602649 CIRBP Cold-inducible RNA-binding protein CIRBP 1153 ENSG00000099622 Cirbp (MGI:893588) -chr19 1282816 1301430 19p13.3 19p13.3 602756 EFNA2, EPLG6, LERK6 Ephrin A2 EFNA2 1943 ENSG00000099617 Efna2 (MGI:102707) -chr19 1383903 1395583 19p13 19p13.3 601825 NDUFS7, PSST, MC1DN3 NADH-ubiquinone oxidoreductase core subunit S7 NDUFS7 374291 ENSG00000115286 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3), Autosomal recessive Ndufs7 (MGI:1922656) -chr19 1397025 1401541 19p13.3 19p13.3 601240 GAMT, CCDS2 Guanidinoacetate methyltransferase GAMT 2593 ENSG00000130005 Cerebral creatine deficiency syndrome 2, 612736 (3), Autosomal recessive Gamt (MGI:1098221) -chr19 1438395 1440494 19p 19p13.3 180535 RPS15, RIG Ribosomal protein S15 RPS15 6209 ENSG00000115268 Rps15 (MGI:98117) -chr19 1446267 1473243 19p13.3 19p13.3 612034 APC2, APCL, SOTOS3 APC regulator of WNT signaling pathway 2 APC2 10297 ENSG00000115266 mutation identified in 1 SOTOS3 family Cortical dysplasia, complex, with other brain malformations 10, 618677 (3), Autosomal recessive; ?Sotos syndrome 3, 617169 (3), Autosomal recessive Apc2 (MGI:1346052) -chr19 1481427 1490873 19p13.3 19p13.3 600487 PCSK4 Proprotein convertase subtilisin/kexin type 4 PCSK4 54760 ENSG00000115257 Pcsk4 (MGI:97514) -chr19 1491180 1497926 19p13.3 19p13.3 609346 REEP6, DP1L1, TB2L1, C19orf32, RP77 Receptor expression-enhancing protein 6 REEP6 92840 ENSG00000115255 Retinitis pigmentosa 77, 617304 (3), Autosomal recessive Reep6 (MGI:1917585) -chr19 1554671 1568324 19p13.3 19p13.3 611009 MEX3D, RKHD1, TINO, KIAA2031 Mex-3, C. elegans, homolog of, D MEX3D 399664 ENSG00000181588 Mex3d (MGI:2681847) -chr19 1573595 1592864 19p13.3 19p13.3 603573 MBD3 Methyl-CpG-binding domain protein 3 MBD3 53615 ENSG00000071655 Mbd3 (MGI:1333812) -chr19 1597168 1605461 19p13.3 19p13.3 609711 UQCR Ubiquinol-cytochrome c reductase, 6.4kD subunit UQCR11 10975 ENSG00000127540 Uqcr11 (MGI:1913844) -chr19 1609291 1652614 19p13.3 19p13.3 147141 TCF3, E2A, AGM8 Transcription factor-3 (E2A immunoglobulin enhancer-binding factors E12/E47) TCF3 6929 ENSG00000071564 Agammaglobulinemia 8, autosomal dominant, 616941 (3), Autosomal dominant Tcf3 (MGI:98510) -chr19 1753505 1780987 19p13.3 19p13.3 611294 ONECUT3, OC3 One cut homeobox 3 ONECUT3 390874 ENSG00000205922 Onecut3 (MGI:1891409) -chr19 1782067 1812275 19p13.3 19p13.3 605866 ATP8B3, ATPIK ATPase, class I, type 8B, member 3 ATP8B3 148229 ENSG00000130270 Atp8b3 (MGI:1914581) -chr19 1815247 1848682 19p13.3 19p13.3 609614 REXO1, REX1, ELOABP1, TCEB3BP1 RNA exonuclease 1, S. cerevisiae, homolog of REXO1 57455 ENSG00000079313 Rexo1 (MGI:1914182) -chr19 1816158 1816237 19p13.3 19p13.3 615201 MIR1909 Micro RNA 1909 MIR1909 100302210 ENSG00000284216 -chr19 1852398 1863578 19p13.3 19p13.3 606139 KLF16, BTEB4, DRRF Kruppel-like factor 16 KLF16 83855 ENSG00000129911 Klf16 (MGI:2153049) -chr19 1876809 1885518 19p13.3 19p13.3 617942 ABHD17A, FAM108A1 Abhydrolase domain-containing protein 17A, depalmitoylase ABHD17A 81926 ENSG00000129968 Abhd17a (MGI:106388) -chr19 1905398 1913446 19p13.3 19p13.3 615302 ADAT3, TAD3, MRT36 Adenosine deaminase, tRNA-specific, 3 ADAT3 113179 ENSG00000213638 Mental retardation, autosomal recessive 36, 615286 (3), Autosomal recessive Adat3 (MGI:1924344) -chr19 1905398 1926012 19p13.3 19p13.3 613764 SCAMP4 Secretory carrier membrane protein 4 SCAMP4 113178 ENSG00000227500 Scamp4 (MGI:1928947) -chr19 1941148 1981337 19p13.3 19p13.3 602214 CSNK1G2 Casein kinase 1, gamma-2 CSNK1G2 1455 ENSG00000133275 Csnk1g2 (MGI:1920014) -chr19 2037470 2051277 19p13.3 19p13.3 605069 MKNK2, MNK2, GPRK7 Mitogen-activated protein kinase-interacting serine/threonine kinase-2 MKNK2 2872 ENSG00000099875 Mknk2 (MGI:894279) -chr19 2096668 2099589 19p13.3 19p13.3 618897 IZUMO4 IZUMO family, member 4 IZUMO4 113177 ENSG00000099840 Izumo4 (MGI:1918814) -chr19 2100987 2151565 19p13.3 19p13.3 607246 AP3D1, HPS10 Adaptor-related protein complex 3, delta-1 subunit AP3D1 8943 ENSG00000065000 mutation identified in 1 HPS10 patient ?Hermansky-Pudlak syndrome 10, 617050 (3), Autosomal recessive Ap3d1 (MGI:107734) -chr19 2163932 2232577 19p13.3 19p13.3 607375 DOT1L, DOT1, KIAA1814 Dot1, yeast, homolog of DOT1L 84444 ENSG00000104885 Dot1l (MGI:2143886) -chr19 2229980 2236723 19p13.3 19p13.3 617834 PLEKHJ1, GNRPX Pleckstrin homology domain-containing protein, family J, member 1 PLEKHJ1 55111 ENSG00000104886 Plekhj1 (MGI:1925920) -chr19 2236823 2248654 19p13.3-p13.2 19p13.3 600796 SF3A2, SAP62, PRP11 Splicing factor 3a, subunit 2, 66kD SF3A2 8175 ENSG00000104897 Sf3a2 (MGI:104912) -chr19 2249322 2252072 19p13.3-p13.2 19p13.3 600957 AMH, MIF Anti-Mullerian hormone AMH 268 ENSG00000104899 Persistent Mullerian duct syndrome, type I, 261550 (3), Autosomal recessive Amh (MGI:88006) -chr19 2252251 2260812 19p13.3 19p13.3 608743 JSRP1, JP45 Junctional sarcoplasmic reticulum protein 1 JSRP1 126306 ENSG00000167476 Jsrp1 (MGI:1916700) -chr19 2269485 2273487 19p13.3 19p13.3 601579 OAZ1 Ornithine decarboxylase antizyme 1 OAZ1 4946 ENSG00000104904 Oaz1 (MGI:109433) -chr19 2274630 2282174 19p13.3 19p13.3 618526 PEAK3, C19orf35 PEAK family member 3 PEAK3 374872 ENSG00000188305 -chr19 2287163 2308153 19p13.3 19p13.3 609792 LRRN6B, LINGO3, LERN2 Leucine-rich repeat protein, neuronal, 6B LINGO3 645191 ENSG00000220008 Lingo3 (MGI:3609246) -chr19 2321520 2328629 19p13.3 19p13.3 607287 LSM7 LSM7 protein LSM7 51690 ENSG00000130332 Lsm7,Gm10146 (MGI:1913344,MGI:3704367) -chr19 2328570 2355094 19p13.3 19p13.3 608239 SNPPL2B, IMP4, KIAA1532 Signal peptide peptidase-like 2B SPPL2B 56928 ENSG00000005206 Sppl2b (MGI:1920468) -chr19 2385253 2426260 19p13.3 19p13.3 610477 TMPRSS9 Transmembrane protease, serine 9 TMPRSS9 360200 ENSG00000178297 Tmprss9 (MGI:3612246) -chr19 2425624 2427585 19p13.3 19p13.3 607383 TIMM13 Translocase of inner mitochondrial membrane 13 TIMM13 26517 ENSG00000099800 Timm13 (MGI:1353432) -chr19 2428165 2456958 19p13.3 19p13.3 150341 LMNB2, LMN2, EPM9, MCPH27 Lamin B2 LMNB2 84823 ENSG00000176619 mutation identified in 1 EPM9 family Microcephaly 27, primary, autosomal dominant, 619180 (3); ?Epilepsy, progressive myoclonic, 9, 616540 (3), Autosomal recessive; {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3), Autosomal dominant Lmnb2 (MGI:96796) -chr19 2476126 2478258 19p13.3 19p13.3 604948 GADD45B, MYD118 Growth arrest- and DNA damage-inducible gene 45, beta GADD45B 4616 ENSG00000099860 Gadd45b (MGI:107776) -chr19 2511218 2702693 19p13.3 19p13.3 604430 GNG7 Guanine nucleotide-binding protein, gamma-7 GNG7 2788 ENSG00000176533 Gng7 (MGI:95787) -chr19 2714566 2721371 19p13.3 19p13.3 607862 DIRAS1, RIG DIRAS family, GTP-binding Ras-like protein 1 DIRAS1 148252 ENSG00000176490 Diras1 (MGI:2183442) -chr19 2732523 2740075 19p13.3 19p13.3 612168 SLC39A3, ZIP3 Solute carrier family 39, zinc transporter, member 3 SLC39A3 29985 ENSG00000141873 Slc39a3 (MGI:2147269) -chr19 2754713 2783316 19p13 19p13.3 603419 SGTA, SGT Small glutamine-rich tetratricopeptide repeat-containing protein, alpha SGTA 6449 ENSG00000104969 Sgta (MGI:1098703) -chr19 2785465 2815806 19p13.3 19p13.3 601117 THOP1 Thimet oligopeptidase-1 THOP1 7064 ENSG00000172009 Thop1 (MGI:1354165) -chr19 2933217 2944970 19p 19p13.3 194551 ZNF77 Zinc finger protein-77 (pT1) ZNF77 58492 ENSG00000175691 -chr19 2977409 2995183 19p13.3 19p13.3 612399 TLE6, GRG6, PREMBL TLE family member 6, subcortical maternal complex member TLE6 79816 ENSG00000104953 Preimplantation embryonic lethality, 616814 (3), Autosomal recessive Tle6 (MGI:2149593) -chr19 2997637 3047634 19p13.3 19p13.3 601041 TLE2, ESG2 TLE family member 2, transcriptional corepressor TLE2 7089 ENSG00000065717 Tle2 (MGI:104635) -chr19 3052909 3063106 19p13.3 19p13.3 600188 TLE5, AES, GRG5 TLE family member 5, transcriptional modulator TLE5 166 ENSG00000104964 Tle5 (MGI:95806) -chr19 3094361 3123998 19p13 19p13.3 139313 GNA11, HHC2, HYPOC2 Guanine nucleotide-binding protein, Gq class, GNA11 GNA11 2767 ENSG00000088256 Hypocalciuric hypercalcemia, type II, 145981 (3), Autosomal dominant; Hypocalcemia, autosomal dominant 2, 615361 (3), Autosomal dominant Gna11 (MGI:95766) -chr19 3136032 3163748 19p13 19p13.3 139314 GNA15, GNA16 Guanine nucleotide-binding protein (G protein) alpha 15 (Gq class) GNA15 2769 ENSG00000060558 Gna15 (MGI:95770) -chr19 3178768 3180331 19p13.3 19p13.3 603751 S1PR4, EDG6, S1P4 Sphingosine-1-phosphate receptor 4 S1PR4 8698 ENSG00000125910 S1pr4 (MGI:1333809) -chr19 3185929 3209574 19p13.3 19p13.3 609156 NCLN Nicalin NCLN 56926 ENSG00000125912 Ncln (MGI:1926081) -chr19 3224660 3297075 19p13 19p13.3 612680 CELF5, BRUNOL5 CUGbp- and ELAV-like family, member 5 CELF5 60680 ENSG00000161082 Celf5 (MGI:2442333) -chr19 3359629 3469216 19p13.3 19p13.3 600729 NFIC Nuclear factor I/C (CCAAT-binding transcription factor) NFIC 4782 ENSG00000141905 order: cen-NFIX-NFIC-tel Nfic (MGI:109591) -chr19 3490823 3500673 19p13.3 19p13.3 611262 DOHH, HLRC1 Deoxyhypusine hydroxylase DOHH 83475 ENSG00000129932 Dohh (MGI:1915964) -chr19 3506262 3538333 19p13.3 19p13.3 603619 HCDH, FZR CDH1/HCT1, S. cerevisiae, homolog of FZR1 51343 ENSG00000105325 Fzr1 (MGI:1926790) -chr19 3538269 3557591 19p13.3 19p13.3 617745 MFSD12, PP3501 Major facilitator superfamily domain-containing protein 12 MFSD12 126321 ENSG00000161091 Mfsd12 (MGI:3604804) -chr19 3572915 3579082 19p13.3 19p13.3 605535 HMG20B, BRAF35 High mobility group protein 20B HMG20B 10362 ENSG00000064961 Hmg20b (MGI:1341190) -chr19 3585477 3593540 19p13.3 19p13.3 608792 GIPC3, DFNB15, DFNB72, DFNB95 GAIP C-terminus-interacting protein 3 GIPC3 126326 ENSG00000179855 Deafness, autosomal recessive 15, 601869 (3), Autosomal recessive Gipc3 (MGI:2387006) -chr19 3594506 3608748 19p13.3 19p13.3 188070 TBXA2R, BDPLT13 Thromboxane A2 receptor TBXA2R 6915 ENSG00000006638 {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3), Autosomal dominant Tbxa2r (MGI:98496) -chr19 3610644 3626809 19p13.3 19p13.3 618536 CACTIN, C19orf29 Cactin, splicesome C complex subunit CACTIN 58509 ENSG00000105298 Cactin (MGI:1917562) -chr19 3630180 3700485 19p13.3 19p13.3 606102 PIP5K1C, LCCS3 Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma PIP5K1C 23396 ENSG00000186111 Lethal congenital contractural syndrome 3, 611369 (3), Autosomal recessive Pip5k1c (MGI:1298224) -chr19 3708383 3750812 19p13.3 19p13.3 612689 TJP3, ZO3 Tight junction protein 3 TJP3 27134 ENSG00000105289 Tjp3 (MGI:1351650) -chr19 3750771 3761695 19p13.3 19p13.3 604262 APBA3, X11L2, MINT3 Amyloid beta A4 precursor protein-binding, family A, member 3 APBA3 9546 ENSG00000011132 Apba3 (MGI:1888527) -chr19 3762681 3767564 19p13.3 19p13.3 611858 MRPL54 Mitochondrial ribosomal protein L54 MRPL54 116541 ENSG00000183617 Mrpl54 (MGI:1913297) -chr19 3769088 3772227 19p13.3 19p13.3 610362 RAX2, RAXL1, QRX, CORD11, ARMD6 Retina and anterior neural fold homeobox 2 RAX2 84839 ENSG00000173976 mutation identified in 1 ARMD6 patient Cone-rod dystrophy 11, 610381 (3), Autosomal dominant; ?Macular degeneration, age-related, 6, 613757 (3) -chr19 3777972 3801798 19p13.3 19p13.3 600038 MATK, HYL, CTK Megakaryocyte-associated tyrosine kinase MATK 4145 ENSG00000007264 Matk (MGI:99259) -chr19 3804023 3869037 19p13.3 19p13.3 619284 ZFR2, KIAA1086 Zinc finger RNA-binding protein 2 ZFR2 23217 ENSG00000105278 Zfr2 (MGI:2143792) -chr19 3880684 3928081 19p13.3 19p13.3 608179 ATCAY, CLAC, KIAA1872 Caytaxin ATCAY 85300 ENSG00000167654 Ataxia, cerebellar, Cayman type, 601238 (3), Autosomal recessive Atcay (MGI:2448730) -chr19 3933068 3942415 19p13.3 19p13.3 608705 ITGB1BP3, MIBP Integrin, beta-1, binding protein of, 3 NMRK2 27231 ENSG00000077009 Nmrk2 (MGI:1916814) -chr19 3958452 3971098 19q13.3 19p13.3 603289 ZIPK ZIP kinase DAPK3 1613 ENSG00000167657 Dapk3 (MGI:1203520) -chr19 3976055 3985462 19pter-q12 19p13.3 130610 EEF2, EF2, SCA26 Eukaryotic translation elongation factor-2 EEF2 1938 ENSG00000167658 mutation identified in 1 family ?Spinocerebellar ataxia 26, 609306 (3), Autosomal dominant Eef2 (MGI:95288) -chr19 4007735 4039385 19p13.3 19p13.3 605989 PIAS4, PIASY Protein inhibitor of activated STAT4 PIAS4 51588 ENSG00000105229 Pias4 (MGI:2136940) -chr19 4043302 4066898 19p13.3 19p13.3 605878 ZBTB7A, FBI1, LRF Zinc finger and BTB domain containing 7A ZBTB7A 51341 ENSG00000178951 Zbtb7a (MGI:1335091) -chr19 4090320 4124183 19p13.3 19p13.3 601263 MAP2K2, PRKMK2, MEK2, MKK2, CFC4 Mitogen-activated protein kinase kinase 2 MAP2K2 5605 ENSG00000126934 previously assigned to 7q32 Cardiofaciocutaneous syndrome 4, 615280 (3), Autosomal dominant Map2k2 (MGI:1346867) -chr19 4153630 4173053 19p13.3 19p13.3 611998 CREB3L3, CREBH, HYTG2 cAMP responsive element-binding protein 3-like 3 CREB3L3 84699 ENSG00000060566 Hypertriglyceridemia 2, 619324 (3), Autosomal dominant Creb3l3 (MGI:2384786) -chr19 4174108 4182562 19p13.3 19p13.3 606211 SIRT6, SIR2L6 Sirtuin 6 (Sir2, S. cerevisiae, homolog of, 6) SIRT6 51548 ENSG00000077463 Sirt6 (MGI:1354161) -chr19 4229195 4237538 19p13.3 19p13.3 605816 EBI3 Epstein-Barr virus-induced gene 3 EBI3 10148 ENSG00000105246 Ebi3 (MGI:1354171) -chr19 4279068 4290721 19p13.3 19p13.3 610481 SHD SH2 domain-containing protein D SHD 56961 ENSG00000105251 Shd (MGI:1099461) -chr19 4292226 4302438 19p13.3 19p13.3 614715 TMIGD2, IGPR1 Transmembrane and immunoglobulin domains-containing protein 2 ` TMIGD2 126259 ENSG00000167664 -chr19 4304597 4323835 19p13.3 19p13.3 609828 FSD1, GLFND Fibronectin type 3 and SPRY domains-containing protein 1 FSD1 79187 ENSG00000105255 Fsd1 (MGI:1934858) -chr19 4324042 4338876 19p13.3 19p13.3 607881 STAP2, BKS Signal-transducing adaptor protein 2 STAP2 55620 ENSG00000178078 Stap2 (MGI:2147039) -chr19 4360368 4400546 19p13.3 19p13.3 601768 SH3GL1, EEN SH3 domain GRB2-like 1 (Extra 11-19 leukemia fusion gene) SH3GL1 6455 ENSG00000141985 Leukemia, acute myeloid, 601626 (1), Somatic mutation, Autosomal dominant Sh3gl1 (MGI:700010) -chr19 4402595 4448321 19p13.3 19p13.3 601246 CHAF1A, CAF1B, CAF1P150 Chromatin assembly factor I, subunit A CHAF1A 10036 ENSG00000167670 Chaf1a (MGI:1351331) -chr19 4445005 4458758 19p13 19p13.3 611946 UBXN6, UBXD1 UBX domain protein 6 UBXN6 80700 ENSG00000167671 Ubxn6 (MGI:1913780) -chr19 4472296 4502219 19p13.3 19p13.3 617884 HDGFL2, HDGFRP2 Hepatoma-derived growth factor-like protein 2 HDGFL2 84717 ENSG00000167674 Hdgfl2 (MGI:1194492) -chr19 4502191 4520284 19p13.3 19p13.3 613247 PLIN4, KIAA1881 Perilipin 4 PLIN4 729359 ENSG00000167676 Plin4 (MGI:1929709) -chr19 4522530 4535223 19p13.3 19p13.3 613248 PLIN5, LSDP5 Perilipin 5 PLIN5 440503 ENSG00000214456 Plin5 (MGI:1914218) -chr19 4536401 4540035 19p13.3 19p13.3 611289 LRG1, LRG Leucine-rich alpha-2-glycoprotein 1 LRG1 116844 ENSG00000171236 Lrg1 (MGI:1924155) -chr19 4542587 4581483 19p13.3 19p13.3 608873 SEMA6B, EPM11 Semaphorin 6B SEMA6B 10501 ENSG00000167680 Epilepsy, progressive myoclonic, 11, 618876 (3), Autosomal dominant Sema6b (MGI:1202889) -chr19 4639504 4655567 19p13.3 19p13.3 615869 TNFAIP8L1, TIPE1 Tumor necrosis factor-alpha-induced protein 8-like 1 TNFAIP8L1 126282 ENSG00000185361 Tnfaip8l1 (MGI:1913693) -chr19 4657544 4670390 19p13.3 19p13.3 606746 MYDGF, C19orf10, SF20, IL25 Myeloid-derived growth factor MYDGF 56005 ENSG00000074842 Mydgf (MGI:2156020) -chr19 4675225 4723841 19p13.3 19p13.3 608258 DPP9, DPRP2 Dipeptidyl peptidase IX DPP9 91039 ENSG00000142002 Dpp9 (MGI:2443967) -chr19 4724069 4724140 19p13.3 19p13.3 615303 TRG-TCC1-1, TRNAG3 tRNA glycine (anticodon TCC) 1-1 TRG-TCC1-1 7197 -chr19 4724634 4724706 19p13.3 19p13.3 615304 TRNAV32 Transfer RNA valine 32 TRV-CAC3-1 100189416 -chr19 4791733 4801272 19p13.3 19p13.3 613538 FEM1A Fem-1 homolog A FEM1A 55527 ENSG00000141965 Fem1a,Fem1al (MGI:2441689,MGI:1335089) -chr19 4815931 4831711 19p13.3 19p13.3 607601 TICAM1, TRIF, IIAE6 TIR domain-containing adaptor molecule 1 TICAM1 148022 ENSG00000127666 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3), Autosomal dominant, Autosomal recessive Ticam1 (MGI:2147032) -chr19 4838340 4867666 19p13.3 19p13.3 602702 PLIN3, M6PRBP1, TIP47 Perilipin 3 PLIN3 10226 ENSG00000105355 Plin3 (MGI:1914155) -chr19 4903079 4962153 19p13.3 19p13.3 607990 UHRF1, ICBP90, NP95 Ubiquitin-like protein containing PHD and RING finger domains 1 UHRF1 29128 ENSG00000276043 Uhrf1 (MGI:1338889) -chr19 4969086 5153602 19p13.3 19p13.3 609765 KDM4B, JMJD2B, KIAA0876, MRD65 Lysine demethylase 4B KDM4B 23030 ENSG00000127663 Intellectual developmental disorder, autosomal dominant 65, 619320 (3), Autosomal dominant Kdm4b (MGI:2442355) -chr19 5205502 5340811 19p13.3 19p13.3 601576 PTPRS Protein tyrosine phosphatase, receptor type, sigma PTPRS 5802 ENSG00000105426 Ptprs (MGI:97815) -chr19 5455416 5456855 19p13.3 19p13.3 612063 ZNRF4, SPERIZIN Zinc finger and ring finger protein 4 ZNRF4 148066 ENSG00000105428 Znrf4 (MGI:1341258) -chr19 5558166 5568033 19p13.3 19p13.3 615241 TINCR Terminal differentiation-induced noncoding RNA TINCR 257000 ENSG00000223573 Tincr (MGI:5012404) -chr19 5586992 5622845 19p13.3 19p13.3 608066 SAFB2, KIAA0138 Scaffold attachment factor B2 SAFB2 9667 ENSG00000130254 Safb2 (MGI:2146808) -chr19 5623080 5668477 19p13.3-p13.2 19p13.3 602895 SAFB, HET Scaffold attachment factor B SAFB 6294 ENSG00000160633 Safb (MGI:2146974) -chr19 5678421 5680515 19p13.3 19p13.3 616658 MICOS13, C19orf70, MIC13, QIL1 Mitochondrial contact site and cristae organizing system subunit 13 MICOS13 125988 ENSG00000174917 Combined oxidative phosphorylation deficiency 37, 618329 (3), Autosomal recessive Micos13 (MGI:2442174) -chr19 5690294 5691874 19p13.3 19p13.3 617893 RPL36 Ribosomal protein L36 RPL36 25873 ENSG00000130255 Rpl36 (MGI:1860603) -chr19 5691833 5720451 19p13.2 19p13.3 605490 LONP1, PRSS15, LON, CODASS lon peptidase 1, mitochondrial LONP1 9361 ENSG00000196365 CODAS syndrome, 600373 (3), Autosomal recessive Lonp1 (MGI:1921392) -chr19 5720155 5778733 19p13.3 19p13.3 617490 CATSPERD, TMEM146 Cation channel, sperm-associated, auxiliary subunit delta CATSPERD 257062 ENSG00000174898 Catsperd (MGI:2147030) -chr19 5805066 5828323 19p13.3 19p13.3 602018 NRTN, NTN Neurturin NRTN 4902 ENSG00000171119 Nrtn (MGI:108417) -chr19 5830407 5840018 19p13.3 19p13.3 136836 FUT6 Fucosyltransferase 6 (alpha (1,3) fucosyltransferase) FUT6 2528 ENSG00000156413 in cluster with FUT3, FUT5 [Fucosyltransferase 6 deficiency], 613852 (3) -chr19 5842887 5857121 19p13.3 19p13.3 111100 FUT3, LE Fucosyltransferase 3 FUT3 2525 ENSG00000171124 cen-FUT5-23kb-FUT3-14kb-FUT6-ter [Blood group, Lewis], 618983 (3) -chr19 5865825 5870539 19p13.3 19p13.3 136835 FUT5 Fucosyltransferase 5 (alpha (1,3) fucosyltransferase) FUT5 2527 ENSG00000130383 cen-FUT5-FUT3-FUT6-ter -chr19 5891228 5903789 19p13.3 19p13.3 612638 NDUFA11, MC1DN14 NADH-ubiquinone oxidoreductase subunit A11 NDUFA11 126328 ENSG00000174886 Mitochondrial complex I deficiency, nuclear type 14, 618236 (3), Autosomal recessive Ndufa11 (MGI:1917125) -chr19 5904871 5910852 19p13.3 19p13.3 617204 VMAC Vimentin-type intermediate filament-associated coiled-coil protein VMAC 400673 ENSG00000187650 Vmac (MGI:2146912) -chr19 5914253 5916210 19p13.3 19p13.3 114212 CAPS Calcyphosine CAPS 828 ENSG00000105519 -chr19 5916138 5978139 19p13.3 19p13.3 603327 RANBP3 RAN-binding protein-3 RANBP3 8498 ENSG00000031823 Ranbp3 (MGI:1919060) -chr19 5993163 6110600 19p13.3-p13.2 19p13.3 142765 RFX2 Regulatory factor (trans-acting) 2 (influences HLA class II expression) RFX2 5990 ENSG00000087903 Rfx2 (MGI:106583) -chr19 6135632 6193101 19p13.3 19p13.3 614363 ACSBG2, BGR Acyl-CoA synthetase, bubblegum family, member 2 ACSBG2 81616 ENSG00000130377 Acsbg2 (MGI:3587728) -chr19 6210380 6279974 19p13.3 19p13.3 159556 MLLT1, ENL MLLT1 super elongation complex subunit MLLT1 4298 ENSG00000130382 fuses with ALL1 Mllt1 (MGI:1927238) -chr19 6306141 6360367 19p13.3 19p13.3 613491 ACER1 Alkaline ceraminidase 1 ACER1 125981 ENSG00000167769 Acer1 (MGI:2181962) -chr19 6361530 6370241 19p13.3 19p13.3 601119 CLPP, PRLTS3, DFNB81 ATP-dependent protease ClpAP, E. coli, proteolytic subunit, homolog of CLPP 8192 ENSG00000125656 Perrault syndrome 3, 614129 (3), Autosomal recessive Clpp (MGI:1858213) -chr19 6372793 6375249 19p13.3 19p13.3 613305 ALKBH7, ABH7 AlkB homolog 7 ALKBH7 84266 ENSG00000125652 Alkbh7 (MGI:1913650) -chr19 6375147 6375932 19p13.3 19p13.3 602921 PSPN Persephin PSPN 5623 ENSG00000125650 Pspn (MGI:1201684) -chr19 6379568 6393185 19p13.3 19p13.3 189968 GTF2F1, RAP74 General transcription factor IIF, polypeptide 1 (74kD subunit) GTF2F1 2962 ENSG00000125651 Gtf2f1 (MGI:1923848) -chr19 6413101 6424810 19p13.3 19p13.3 603445 KHSRP, KSRP, FUBP2, FBP2 KH-type splicing regulatory protein KHSRP 8570 ENSG00000088247 Khsrp (MGI:1336214) -chr19 6426036 6436266 19p13.3 19p13.3 610822 SLC25A41 Solute carrier family 25, member 41 SLC25A41 284427 ENSG00000181240 Slc25a41 (MGI:2144215) -chr19 6463776 6467220 19p13.3 19p13.3 609737 CRB3 Crumbs cell polarity complex component 3 CRB3 92359 ENSG00000130545 Crb3 (MGI:2670904) -chr19 6467203 6481797 19p13.3 19p13.3 613634 DENND1C DENN/MADD domain-containing protein 1C DENND1C 79958 ENSG00000205744 Dennd1c (MGI:1918035) -chr19 6494318 6502847 19p13.3 19p13.3 602662 TUBB4A, DYT4, HLD6 Tubulin, beta-4A TUBB4A 10382 ENSG00000104833 Dystonia 4, torsion, autosomal dominant, 128101 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 6, 612438 (3), Autosomal dominant Tubb4a (MGI:107848) -chr19 6531025 6535923 19p13.3 19p13.3 606182 TNFSF9 Tumor necrosis factor ligand superfamily, member 9 TNFSF9 8744 ENSG00000125657 Tnfsf9 (MGI:1101058) -chr19 6581647 6591149 19p13 19p13.3 602840 CD70, TNFSF7, CD27L, LPFS3 CD70 molecule CD70 970 ENSG00000125726 Lymphoproliferative syndrome 3, 618261 (3), Autosomal recessive Cd70 (MGI:1195273) -chr19 6658125 6670594 19p13.3 19p13.3 604520 TNFSF14, HVEML Tumor necrosis factor ligand superfamily, member 14 TNFSF14 8740 ENSG00000125735 Tnfsf14 (MGI:1355317) -chr19 6677703 6720649 19p13.3-p13.2 19p13.3 120700 C3, ARMD9, AHUS5 Complement component-3 C3 718 ENSG00000125730 LE ~7cM in males vs. C3 RFLP C3 deficiency, 613779 (3), Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3), Autosomal dominant; {Macular degeneration, age-related, 9}, 611378 (3) C3 (MGI:88227) -chr19 6729913 6737579 19p13.3 19p13.3 618491 GPR108, LUSTR2 G protein-coupled receptor 108 GPR108 56927 ENSG00000125734 Gpr108 (MGI:1925558) -chr19 6739679 6751529 19p13.3 19p13.3 604504 TRIP10, CIP4 Thyroid hormone receptor interactor 10 TRIP10 9322 ENSG00000125733 Trip10 (MGI:2146901) -chr19 6752159 6767512 19p13.3 19p13.3 604721 SH2D3A, NSP1 SH2 domain-containing protein 3A SH2D3A 10045 ENSG00000125731 -chr19 6772707 6857365 19p13.3-p13.2 19p13.3 164875 VAV1, VAV Oncogene VAV1 VAV1 7409 ENSG00000141968 close to INSR Vav1 (MGI:98923) -chr19 6887548 6940449 19p13.3 19p13.3-p13.2 600493 ADGRE1, EMR1 Adhesion G protein-coupled receptor E1 ADGRE1 2015 ENSG00000174837 Adgre1 (MGI:106912) -chr19 6900000 50900000 19p13.2-q13.3 164953 LPSA, D19S381E Oncogene liposarcoma (DNA segment, single copy, expressed, probes MC15, MC6) 8177 Liposarcoma (1) -chr19 6900000 12600000 19p13.2 614223 NRCLP6 Narcolepsy 6 100689216 associated with rs2305795 Narcolepsy 6, 614223 (2) -chr19 6900000 19900000 19p13.2-p13.1 607324 PAPA3 Polydactyly, postaxial, type A3 338333 between D19S1165 and D19S929 Polydactyly, postaxial, type A3, 607324 (2) -chr19 6900000 12600000 19p13.2 184700 PCOS1, PCO1, PCO Polycystic ovary syndrome 1 5120 max lod at D19S884 Polycystic ovary syndrome 1, 184700 (2), Autosomal dominant -chr19 6900000 12600000 19p13.2 603386 TCO Thyroid carcinoma, nonmedullary, with cell oxyphilia 50975 Thyroid carcinoma, nonmedullary, with cell oxyphilia, 603386 (2) -chr19 6952499 6990845 19p13.3 19p13.2 612305 ADGRE4P, EMR4, GPR127, EMR4P, FIRE Adhesion G protein-coupled receptor E4, pseudogene ADGRE4P 326342 ENSG00000268758 -chr19 7049320 7051734 19p13.2 19p13.2 607964 MBD3L2 Methyl-CpG binding domain protein 3-like 2 MBD3L2 125997 ENSG00000230522 Mbd3l2 (MGI:2158460) -chr19 7112256 7294413 19p13.2 19p13.2 147670 INSR, HHF5 Insulin receptor INSR 3643 ENSG00000171105 1 gene for alpha and beta subunits Rabson-Mendenhall syndrome, 262190 (3), Autosomal recessive; Leprechaunism, 246200 (3), Autosomal recessive; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3), Autosomal dominant Insr (MGI:96575) -chr19 7348900 7476989 19p13.2 19p13.2 616432 ARHGEF18, KIAA0521, RP78 Rho guanine nucleotide exchange factor 18 ARHGEF18 23370 ENSG00000104880 Retinitis pigmentosa 78, 617433 (3), Autosomal recessive Arhgef18 (MGI:2142567) -chr19 7476874 7494976 19p13.3 19p13.2 607583 PEX11G Peroxisome biogenesis factor 11G PEX11G 92960 ENSG00000104883 Pex11g (MGI:1920905) -chr19 7515285 7521024 19p13.2 19p13.2 619496 ZNF358, ZFEND Zinc finger protien 358 ZNF358 140467 ENSG00000198816 -chr19 7522623 7534008 19p13.3-p13.2 19p13.2 605248 MCOLN1, ML4 Mucolipin 1 MCOLN1 57192 ENSG00000090674 Mucolipidosis IV, 252650 (3), Autosomal recessive Mcoln1 (MGI:1890498) -chr19 7534163 7561766 19p13.3 19p13.2 603197 PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS Patatin-like phospholipase domain-containing protein 6 PNPLA6 10908 ENSG00000032444 mutation identified in 1 LMNS family Spastic paraplegia 39, autosomal recessive, 612020 (3), Autosomal recessive; Oliver-McFarlane syndrome, 275400 (3), Autosomal recessive; ?Laurence-Moon syndrome, 245800 (3), Autosomal recessive; Boucher-Neuhauser syndrome, 215470 (3), Autosomal recessive Pnpla6 (MGI:1354723) -chr19 7595862 7618303 19p13.2 19p13.2 612685 CAMSAP3, NEZHA, KIAA1543 Calmodulin-regulated spectrin-associated protein 3 CAMSAP3 57662 ENSG00000076826 Camsap3 (MGI:1916947) -chr19 7619524 7629544 19p13.2 19p13.2 610850 XAB2 XPA-binding protein 2 XAB2 56949 ENSG00000076924 Xab2 (MGI:1914689) -chr19 7629792 7631955 19p13.2 19p13.2 614770 PET100, C19orf79, MC4DN12 PET100 cytochrome c oxidase chaperone PET100 100131801 ENSG00000229833 Mitochondrial complex IV deficiency, nuclear type 12, 619055 (3), Autosomal recessive Pet100 (MGI:3615306) -chr19 7631613 7637025 19p13.2 19p13.2 619344 PCP2, PCD5 Purkinje cell protein 2 PCP2 126006 ENSG00000174788 Pcp2 (MGI:97508) -chr19 7637109 7647872 19p13.3-p13.2 19p13.2 601717 STXBP2, UNC18B, FHL5 Syntaxin binding protein 2 STXBP2 6813 ENSG00000076944 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease, 613101 (3) Stxbp2 (MGI:107370) -chr19 7669048 7670454 19p13.2 19p13.2 605565 RETN, RSTN, FIZZ3 Resistin RETN 56729 ENSG00000104918 {Hypertension, insulin resistance-related, susceptibility to}, 125853 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant Retn (MGI:1888506) -chr19 7677089 7679828 19p13.3 19p13.2 609565 MCEMP1 Mast cell-expressed membrane protein 1 MCEMP1 199675 ENSG00000183019 Mcemp1 (MGI:1916439) -chr19 7688758 7702754 19p13.3 19p13.2 151445 FCER2, FCE2, CD23, CLEC4J Fc fragment of IgE, low affinity II, receptor for (CD23A) FCER2 2208 ENSG00000104921 Fcer2a (MGI:95497) -chr19 7728956 7732109 19p13.3 19p13.2 616256 CLEC4G, LSECTIN C-type lectin domain family 4, member G CLEC4G 339390 ENSG00000182566 Clec4g (MGI:1923113) -chr19 7739992 7747533 19p13.3 19p13.2 604672 CD209, CDSIGN CD209 antigen CD209 30835 ENSG00000090659 {HIV type 1, susceptibility to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3); {Dengue fever, protection against}, 614371 (3) Cd209c,Cd209b,Cd209e,Cd209d,Cd209a (MGI:1916415,MGI:2157942,MGI:2157945,MGI:2157948,MGI:2157947) -chr19 7763242 7769604 19p13.3 19p13.2 605872 CLEC4M, CD209L, LSIGN, DCSIGNR C-type lectin domain family 4, member M CLEC4M 10332 ENSG00000104938 Cd209g,Cd209b (MGI:1916415,MGI:1917442) -chr19 7888509 7902015 19p13.2 19p13.2 612891 LRRC8E Leucine-rich repeat-containing protein 8E LRRC8E 80131 ENSG00000171017 Lrrc8e (MGI:1919517) -chr19 7903784 7914477 19p13.2 19p13.2 603014 MAP2K7, PRKMK7, MKK7, JNKK2, MAPKK7 Mitogen-activated protein kinase kinase 7 MAP2K7 5609 ENSG00000076984 Map2k7 (MGI:1346871) -chr19 7920337 7923249 19p13.2 19p13.2 605076 SNAPC2, SNAP45 Small nuclear RNA-activating protein complex, polypeptide 2 SNAPC2 6618 ENSG00000104976 Snapc2 (MGI:1914861) -chr19 7924490 7926134 19p13.2 19p13.2 600135 CTXN1, CTXN Cortexin 1 CTXN1 404217 ENSG00000178531 Ctxn1 (MGI:88566) -chr19 7926717 7943665 19p13.3-p13.2 19p13.2 605058 TIMM44 Translocase of inner mitochondrial membrane 44 TIMM44 10469 ENSG00000104980 Timm44 (MGI:1343262) -chr19 7958572 8005640 19p13.2 19p13.2 603466 ELAVL1, HUR ELAV-like RNA binding protein 1 ELAVL1 1994 ENSG00000066044 Elavl1 (MGI:1100851) -chr19 8052340 8062649 19p13.2 19p13.2 602565 CCL25, SCYA25, TECK Chemokine, C-C motif, ligand 25 CCL25 6370 ENSG00000131142 Ccl25 (MGI:1099448) -chr19 8065401 8149591 19p13.2 19p13.2 608529 FBN3, KIAA1776 Fibrillin 3 FBN3 84467 ENSG00000142449 -chr19 8209328 8262432 19p13.2 19p13.2 615334 CERS4, LASS4, TRH1 Ceramide synthase 4 CERS4 79603 ENSG00000090661 Cers4 (MGI:1914510) -chr19 8302126 8308357 19p13.2 19p13.2 606475 CD320, 8D6, 8D6A, TCBLR CD320 molecule CD320 51293 ENSG00000167775 Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3) Cd320 (MGI:1860083) -chr19 8308594 8321374 19p13.2 19p13.2 602139 NDUFA7 NADH-ubiquinone oxidoreductase subunit A7 NDUFA7 4701 ENSG00000267855 previously assigned to 20p13 Ndufa7 (MGI:1913666) -chr19 8321495 8323339 19p13.2 19p13.2 603685 RPS28, DBA15 Ribosomal protein S28 RPS28 6234 ENSG00000233927 Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3), Autosomal dominant Rps28 (MGI:1859516) -chr19 8322583 8343261 19p13.2 19p13.2 614611 KANK3 KN motif- and ankyrin repeat domain-containing protein 3 KANK3 256949 ENSG00000186994 Kank3 (MGI:1098615) -chr19 8364128 8374372 19p13.3 19p13.2 605910 ANGPTL4, PGAR, HFARP, FIAF, TGQTL Angiopoietin-like 4 ANGPTL4 51129 ENSG00000167772 Plasma triglyceride level QTL, low, 615881 (3), Autosomal dominant Angptl4 (MGI:1888999) -chr19 8390359 8404433 19p13.2 19p13.2 604198 RAB11B, NDAGSCW Ras-associated protein RAB11B RAB11B 9230 ENSG00000185236 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3), Autosomal dominant Rab11b (MGI:99425) -chr19 8413304 8439016 19p13.2 19p13.2 613332 MARCH2 Membrane-associated RING-CH finger protein 2 MARCHF2 51257 ENSG00000099785 Marchf2 (MGI:1925915) -chr19 8444574 8489113 19p13.3-p13.2 19p13.2 160994 HNRPM, HNRPM4, NAGR1 Heterogeneous nuclear ribonucleoprotein M HNRNPM 4670 ENSG00000099783 Hnrnpm (MGI:1926465) -chr19 8490054 8502639 19p13.2 19p13.2 606466 PRAM1 PML-RARA target gene encoding an adaptor molecule 1 PRAM1 84106 ENSG00000133246 Pram1 (MGI:3576625) -chr19 8520777 8577441 19p13.3-p13.2 19p13.2 601480 MYO1F Myosin IF MYO1F 4542 ENSG00000142347 Myo1f (MGI:107711) -chr19 8580239 8610714 19p13.3-p13.2 19p13.2 608990 ADAMTS10, WMS1 ADAM metallopeptidase domain with thrombospondin type 1 motif, 10 ADAMTS10 81794 ENSG00000142303 Weill-Marchesani syndrome 1, recessive, 277600 (3), Autosomal recessive Adamts10 (MGI:2449112) -chr19 8697399 8698794 19p13.2 19p13.2 619251 ACTL9, SPGF53 Actin-like 9 ACTL9 284382 ENSG00000181786 Spermatogenic failure 53, 619258 (3) Actl9 (MGI:1916731) -chr19 8832376 8843318 19p13.2 19p13.2 607963 MBD3L1 Methyl-CpG binding domain protein 3-like 1 MBD3L1 85509 ENSG00000170948 Mbd3l1 (MGI:1920753) -chr19 8848839 9010389 19p13.2 19p13.2 606154 MUC16, CA125 Mucin 16 MUC16 94025 ENSG00000181143 Muc16 (MGI:1920982) -chr19 9140394 9163418 19p13 19p13.2 613864 ZNF317, KIAA1588 Zinc finger protein 317 ZNF317 57693 ENSG00000130803 Zfp317 (MGI:107775) -chr19 9210275 9219588 19p13.2 19p13.2 611538 OR7D4, OR19B Olfactory receptor, family 7, subfamily D, member 4 OR7D4 125958 ENSG00000174667 Olfr77,Olfr867,Olfr39 (MGI:1313142,MGI:2153206,MGI:3030701) -chr19 9291139 9309837 19p13.2 19p13.2 609571 ZNF699, FLJ38144, DEGCAGS Zinc finger protein 699 ZNF699 374879 ENSG00000196110 DEGCAGS syndrome, 619488 (3), Autosomal recessive AU041133,Gm14391,Zfp970,Zfp119a,Zfp119b,Gm3604,Zfp120,Gm10778,Zfp976,Zfp935,Zfp846,Zfp934,Zfp973,Zfp345,Zfp930,Zfp959,Zfp937,Zfp958,Zfp936,Zfp938 (MGI:2675306,MGI:1924367,MGI:3615331,MGI:1924012,MGI:3809656,MGI:3621440,MGI:3644476,MGI:3642994,MGI:1918758,MGI:3652255,MGI:2385298,MGI:2385058,MGI:2385323,MGI:2143755,MGI:3036263,MGI:3709324,MGI:3652219,MGI:1345189,MGI:1345179,MGI:3781781) -chr19 9363012 9382616 19p13 19p13.2 601276 ZNF177 Zinc finger protein 177 ZNF177 7730 ENSG00000188629 -chr19 9412428 9435572 19p13.2 19p13.2 604751 ZNF266, HZF1 Zinc finger protein-266 ZNF266 10781 ENSG00000174652 Zfp266 (MGI:1924769) -chr19 9560328 9584543 19p 19p13.2 194628 ZNF121, D19S204 Zinc finger protein-121 (clone ZHC32) ZNF121 7675 ENSG00000197961 -chr19 9810266 9820527 19p13.2 19p13.2 609079 FBXL12, FBL12 F-box and leucine-rich repeat protein 12 FBXL12 54850 ENSG00000127452 Fbxl12 (MGI:1354738) -chr19 9827917 9830114 19p13.2 19p13.2 606849 UBL5, HUB1 Ubiquitin-like 5 UBL5 59286 ENSG00000198258 pseudogene on 17p11.2 Ubl5b,Ubl5 (MGI:1913427,MGI:3648256) -chr19 9835317 9849688 19p13 19p13.2 601052 PIN1, DOD Peptidyl-prolyl cis/trans isomerase, NIMA-interacting PIN1 5300 ENSG00000127445 Pin1rt1,Pin1 (MGI:1346036,MGI:3649546) -chr19 9853717 9936514 19p13.2 19p13.2 617492 OLFM2, NOE2 Olfactomedin 2 OLFM2 93145 ENSG00000105088 Olfm2 (MGI:3045350) -chr19 9959560 10010531 19p13.2 19p13.2 120216 COL5A3 Collagen, type V, alpha-3 polypeptide COL5A3 50509 ENSG00000080573 Col5a3 (MGI:1858212) -chr19 10013482 10022278 19p13 19p13.2 608575 RDH8, PRRDH Retinol dehydrogenase 8 RDH8 50700 ENSG00000080511 Rdh8 (MGI:2685028) -chr19 10086118 10093248 19p13.2 19p13.2 616808 SHFL, C19orf66, RYDEN Shiftless antiviral inhibitor of ribosomal frameshifting SHFL 55337 ENSG00000130813 Shfl (MGI:2441788) -chr19 10092337 10106406 19p13.2 19p13.2 609336 ANGPTL6, AGF Angiopoietin-like 6 ANGPTL6 83854 ENSG00000130812 Angptl6 (MGI:1917976) -chr19 10106222 10112011 19p13 19p13.2 607793 PPAN, SSF1 Peter pan, Drosophila, homolog of PPAN 56342 ENSG00000130810 fuses with P2RY11 Ppan (MGI:2178445) -chr19 10111692 10115371 19p13 19p13.2 602697 P2RY11 Purinergic receptor P2Y, G protein-coupled, 11 P2RY11 5032 ENSG00000244165 fuses with PPAN -chr19 10115013 10119898 19p13.2 19p13.2 603913 EIF3G, EIF3S4 Eukaryotic translation initiation factor 3, subunit G EIF3G 8666 ENSG00000130811 Eif3g (MGI:1858258) -chr19 10133345 10194952 19p13.3-p13.2 19p13.2 126375 DNMT1, MCMT, HSN1E, ADCADN DNA methyltransferase 1 DNMT1 1786 ENSG00000130816 Neuropathy, hereditary sensory, type IE, 614116 (3), Autosomal dominant; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3), Autosomal dominant Dnmt1 (MGI:94912) -chr19 10221432 10231330 19p13.2 19p13.2 605111 S1PR2, EDG5, DFNB68 Sphingosine-1-phosphate receptor 2 S1PR2 9294 ENSG00000267534 Deafness, autosomal recessive 68, 610419 (3), Autosomal recessive S1pr2 (MGI:99569) -chr19 10251950 10260054 19p13.2 19p13.2 611823 MRPL4 Mitochondrial ribosomal protein L4 MRPL4 51073 ENSG00000105364 Mrpl4 (MGI:2137210) -chr19 10271119 10286614 19p13.3-p13.2 19p13.2 147840 ICAM1 Intercellular adhesion molecule-1 ICAM1 3383 ENSG00000090339 close to Ldlr in mouse {Malaria, cerebral, susceptibility to}, 611162 (3) Icam1 (MGI:96392) -chr19 10286954 10288519 19p13.3 19p13.2 614088 ICAM4, CD242, LW Intracellular adhesion molecule 4 ICAM4 3386 ENSG00000105371 close to C3, LU [Blood group, Landsteiner-Wiener], 111250 (3) Icam4 (MGI:1925619) -chr19 10289350 10296777 19p13.2 19p13.2 601852 ICAM5, TLCN, TLN Intercellular adhesion molecule 5 (telencephalin) ICAM5 7087 ENSG00000105376 Icam5 (MGI:109430) -chr19 10304802 10309556 19p13.2 19p13.2 611639 ZGLP1, GLP1 Zinc finger GATA-like protein 1 ZGLP1 100125288 ENSG00000220201 Zglp1 (MGI:3696042) -chr19 10310044 10316014 19p13.2 19p13.2 614585 FDX2, FDX1L, MEOAL Ferredoxin 2 FDX2 112812 ENSG00000267673 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3), Autosomal recessive Fdx2 (MGI:1915415) -chr19 10316211 10333528 19p13.2 19p13.2 609950 RAVER1, KIAA1978 Ribonucleoprotein, PTB binding 1 RAVER1 125950 ENSG00000161847 Raver1 (MGI:1919016) -chr19 10333775 10339623 19p13.3-p13.2 19p13.2 146631 ICAM3, CDW50 Intercellular adhesion molecule-3 ICAM3 3385 ENSG00000076662 -chr19 10350527 10380571 19p13.2 19p13.2 176941 TYK2, IMD35 Tyrosine kinase 2 TYK2 7297 ENSG00000105397 Immunodeficiency 35, 611521 (3), Autosomal recessive Tyk2 (MGI:1929470) -chr19 10391127 10403567 19p13.2 19p13.2 605065 CDC37 Cell division cycle 37 CDC37 11140 ENSG00000105401 Cdc37 (MGI:109531) -chr19 10416772 10469630 19p13.2 19p13.2 600126 PDE4A, DPDE2 Phosphodiesterase-4A, cAMP-specific (dunce, Drosophila, homolog phosphodiesterase E2) PDE4A 5141 ENSG00000065989 Pde4a (MGI:99558) -chr19 10486124 10503355 19p13.2 19p13.2 606016 KEAP1, KIAA0132 Kelch-like ECH-associated protein 1 KEAP1 9817 ENSG00000079999 Keap1 (MGI:1858732) -chr19 10512741 10517964 19p13.2 19p13.2 605146 S1PR5, EDG8 Sphingosine-1-phosphate receptor 5 S1PR5 53637 ENSG00000180739 S1pr5 (MGI:2150641) -chr19 10543896 10553417 19p13.2 19p13.2 611340 ATG4D, APG4D, AUTL4 Autophagy related 4D cysteine peptidase ATG4D 84971 ENSG00000130734 Atg4d (MGI:2444308) -chr19 10566459 10568978 19p13 19p13.2 600927 CDKN2D Cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) CDKN2D 1032 ENSG00000129355 possible tumor suppressor Cdkn2d (MGI:105387) -chr19 10572670 10587314 19p13.2 19p13.2 607309 AP1M2, MU1B Adaptor-related protein complex 1, mu-2 subunit AP1M2 10053 ENSG00000129354 Ap1m2 (MGI:1336974) -chr19 10602454 10644556 19p13.1 19p13.2 606106 SLC44A2, CTL2 Solute carrier family 44, member 2 SLC44A2 57153 ENSG00000129353 Slc44a2 (MGI:1915932) -chr19 10654345 10692399 19p13 19p13.2 603182 ILF3, NF90, DRBP76, MPHOSPH4, NFAR Interleukin enhancer-binding factor 3 ILF3 3609 ENSG00000129351 Ilf3 (MGI:1339973) -chr19 10701438 10713364 19p13.2 19p13.2 609615 QTRT1, TGT Queuine tRNA-ribosyltransferase 1 QTRT1 81890 ENSG00000213339 Qtrt1 (MGI:1931441) -chr19 10718078 10831902 19p13.2 19p13.2 602378 DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5 Dynamin-2 DNM2 1785 ENSG00000079805 1 LCCS5 family identified with mutation Centronuclear myopathy 1, 160150 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3), Autosomal dominant; Lethal congenital contracture syndrome 5, 615368 (3), Autosomal recessive Dnm2 (MGI:109547) -chr19 10817425 10817495 19p13.2 19p13.2 610719 MIR199A1, MIRN199A1 Micro RNA 199A1 MIR199A1 406976 ENSG00000207752 Mir199a-1 (MGI:2676863) -chr19 10832066 10836211 19p13.2 19p13.2 605395 TMED1, IL1RL1LG Transmembrane p24 trafficking protein 1 (interleukin-1 receptor-like 1 ligand) TMED1 11018 ENSG00000099203 Tmed1 (MGI:106201) -chr19 10871552 10923077 19p13.2 19p13.2 603934 CARM1, PRMT4 Coactivator-associated arginine methyltransferase 1 CARM1 10498 ENSG00000142453 Carm1 (MGI:1913208) -chr19 10922184 10928687 19p13.2 19p13.2 617522 YIPF2 YIP1 domain family, member 2 YIPF2 78992 ENSG00000130733 Yipf2 (MGI:1922016) -chr19 10928810 10930253 19p13.2 19p13.2 617380 TIMM29, C19orf52 Translocase of inner mitochondrial membrane 29 TIMM29 90580 ENSG00000142444 Timm29 (MGI:1917023) -chr19 10960998 11062276 19p13.2 19p13.2 603254 SMARCA4, BRG1, RTPS2, MRD16, CSS4 SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 SMARCA4 6597 ENSG00000127616 Coffin-Siris syndrome 4, 614609 (3), Autosomal dominant; {Rhabdoid tumor predisposition syndrome 2}, 613325 (3), Autosomal dominant Smarca4 (MGI:88192) -chr19 11089431 11133819 19p13.2 19p13.2 606945 LDLR, FHCL1, FHC, FH, LDLCQ2 Low density lipoprotein receptor LDLR 3949 ENSG00000130164 ~20cM distal to C3 LDL cholesterol level QTL2, 143890 (3), Autosomal dominant, Autosomal recessive; Hypercholesterolemia, familial, 1, 143890 (3), Autosomal dominant, Autosomal recessive Ldlr (MGI:96765) -chr19 11145492 11155996 19p13.2 19p13.2 609394 SPC24, SPBC24 SPC24, NDC80 kinetochore complex component SPC24 147841 ENSG00000161888 Spc24 (MGI:1914879) -chr19 11164269 11197864 19p13.2 19p13.2 614610 KANK2, ANKRD25, KIAA1518, PPKWH, NPHS16 KN motif- and ankyrin repeat domain-containing protein 2 KANK2 25959 ENSG00000197256 Nephrotic syndrome, type 16, 617783 (3), Autosomal recessive; Palmoplantar keratoderma and woolly hair, 616099 (3), Autosomal recessive Kank2 (MGI:2384568) -chr19 11199294 11262523 19p13.2 19p13.2 614194 DOCK6, KIAA1395, AOS2 Dedicator of cytokinesis 6 DOCK6 57572 ENSG00000130158 Adams-Oliver syndrome 2, 614219 (3), Autosomal recessive Dock6 (MGI:1914789) -chr19 11239618 11241942 19p13.2 19p13.2 616223 ANGPTL8, C19orf80, LIPASIN Angiopoietin-like protein 8 ANGPTL8 55908 ENSG00000130173 within intron of DOCK6 Angptl8 (MGI:3643534) -chr19 11296143 11326995 9q34 19p13.2 617580 TSPAN16, TM4SF16 Tetraspanin 16 TSPAN16 26526 ENSG00000130167 -chr19 11322067 11339656 19p13.2 19p13.2 604350 RAD3D, GOV Ras family, member RAB3D RAB3D 9545 ENSG00000105514 Rab3d (MGI:97844) -chr19 11342511 11346458 19p13.2 19p13.2 613771 TMEM205 Transmembrane protein 205 TMEM205 374882 ENSG00000105518 Tmem205 (MGI:3045495) -chr19 11374665 11376168 19p13.2 19p13.2 614536 SWSAP1, ZSWIM7AP1, C19orf39 SWIM-type zinc finger domain-containing protein 7-associated protein 1 SWSAP1 126074 ENSG00000173928 Swsap1 (MGI:1914212) -chr19 11377206 11384313 19p13.3-p13.2 19p13.2 133171 EPOR Erythropoietin receptor EPOR 2057 ENSG00000187266 [Erythrocytosis, familial, 1], 133100 (3), Autosomal dominant Epor (MGI:95408) -chr19 11394059 11419313 19p13.2 19p13.2 616743 RGL3 Ral guanine nucleotide dissociation stimulator-like 3 RGL3 57139 ENSG00000205517 Rgl3 (MGI:1918996) -chr19 11420604 11435781 19p13.2 19p13.2 615956 CCDC151, CILD30 Coiled-coil domain-containing protein 151 ODAD3 115948 ENSG00000198003 Ciliary dyskinesia, primary, 30, 616037 (3), Autosomal recessive Odad3 (MGI:1924859) -chr19 11435289 11450967 19p13.2-p13.1 19p13.2 177060 PRKCSH, G19P1, PCLD1 Protein kinase C substrate 80K-H PRKCSH 5589 ENSG00000130175 Polycystic liver disease 1, 174050 (3), Autosomal dominant Prkcsh (MGI:107877) -chr19 11451325 11481045 19p13.2 19p13.2 603458 ELAVL3, HUC, PLE21 ELAV-like RNA binding protein 3 ELAVL3 1995 ENSG00000196361 centromeric to ELAVL1 Elavl3 (MGI:109157) -chr19 11483428 11505838 19p13.2 19p13.2 611371 ZNF653, ZIP67 Zinc finger protein 653 ZNF653 115950 ENSG00000161914 Zfp653 (MGI:2442362) -chr19 11505928 11529133 19p13.2 19p13.2 608388 SITPEC, ECSIT Signaling intermediate in toll pathway, evolutionarily conserved ECSIT 51295 ENSG00000130159 Ecsit (MGI:1349469) -chr19 11538774 11550322 19p13.2 19p13.2 600806 CNN1, SMCC Calponin 1 CNN1 1264 ENSG00000130176 Cnn1 (MGI:104979) -chr19 11574659 11578982 19p13.3-p13.1 19p13.2 171640 ACP5, SPENCDI Acid phosphatase 5, tartrate resistant ACP5 54 ENSG00000102575 incorrectly assigned to 15 by A Spondyloenchondrodysplasia with immune dysregulation, 607944 (3), Autosomal recessive Acp5 (MGI:87883) -chr19 11575254 11619160 19p13.2 19p13.2 612248 ZNF627 Zinc finger protein 627 ZNF627 199692 ENSG00000198551 -chr19 11887772 11980221 19p13.2 19p13.2 194543 ZNF69 Zinc finger protein-69 (Cos5) ZNF69 7620 ENSG00000198429 previously assigned to 22q11.2 -chr19 12131349 12140349 19p13.3-p13.2 19p13.2 194557 ZNF20, KOX13 Zinc finger protein-14 (KOX 6) ZNF20 7568 ENSG00000132010 -chr19 12163095 12189870 19p13.2-p13.12 19p13.2 604078 ZNF136 Zinc finger protein-136 ZNF136 7695 ENSG00000196646 Zfp867 (MGI:2681848) -chr19 12224685 12294897 19p13.2 19p13.2 194542 ZNF44, KOX7 Zinc finger protein-44 (KOX7) ZNF44 51710 ENSG00000197857 previously assigned to 16p11 Zfp811,Zfp964,Zfp963 (MGI:3646490,MGI:4867078,MGI:2682944) -chr19 12429705 12441020 19p13.2 19p13.2 606697 ZK1 Zinc finger protein ZK1 ZNF443 10224 ENSG00000180855 -chr19 12600000 13800000 19p13.13 613638 DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13 Chromosome 19p13.13 deletion syndrome (Chromosome 19p13.13 duplication syndrome) contiguous gene syndrome Chromosome 19p13.13 deletion syndrome, 613638 (4); Chromosome 19p13.13 duplication syndrome, 613638 (4) -chr19 12646510 12666741 19cen-q12 19p13.13 609458 MAN2B1, MANB Mannosidase, alpha, class 2B, member 1 MAN2B1 4125 ENSG00000104774 Mannosidosis, alpha-, types I and II, 248500 (3), Autosomal recessive Man2b1 (MGI:107286) -chr19 12666806 12675831 19p13.13 19p13.13 616850 WDR83, MORG1 WD repeat-containing protein 83 WDR83 84292 ENSG00000123154 Wdr83 (MGI:1915086) -chr19 12668070 12671022 19p13.3 19p13.13 618474 WDR83OS, C19orf56, ASTERIX WDR83 opposite strand WDR83OS 51398 ENSG00000105583 Wdr83os (MGI:3041257) -chr19 12672469 12681879 19p13.12-p13.11 19p13.13 600944 DHPS, NEDSSWI Deoxyhypusine synthase DHPS 1725 ENSG00000095059 Neurodevelopmental disorder with seizures and speech and walking impairment, 618480 (3), Autosomal recessive Dhps (MGI:2683592) -chr19 12688915 12696899 19p13.2 19p13.13 609074 FBXW9, FBW9 F-box and WD40 domain protein 9 FBXW9 84261 ENSG00000132004 Fbxw9 (MGI:1915878) -chr19 12699200 12723931 19p13.13 19p13.13 603002 TNPO2, TRN2, KPNB2B Transportin 2 TNPO2 30000 ENSG00000105576 Tnpo2 (MGI:2384849) -chr19 12737105 12748322 19q13.3 19p13.13 601913 GET3, ASNA1, ARSA1 Guided entry of tail-anchored proteins factor 3, ATPase GET3 439 ENSG00000198356 Get3 (MGI:1928379) -chr19 12751790 12758457 19p13.2-p13.12 19p13.13 607335 BEST2, VMD2L1 Bestrophin 2 BEST2 54831 ENSG00000039987 Best2 (MGI:2387588) -chr19 12763002 12775551 19p13.13 19p13.13 607824 HOOK2, HK2 Hook, Drosophila, homolog of, 2 HOOK2 29911 ENSG00000095066 Hook2 (MGI:2181664) -chr19 12791485 12793314 19p13.2 19p13.13 165161 JUNB Jun B proto-oncogene, AP-1 transcription factor subunit JUNB 3726 ENSG00000171223 Junb (MGI:96647) -chr19 12796822 12801799 19p13.2 19p13.13 600538 PRDX2, PRX2, TDPX1, PTX1, NKEFB Peroxiredoxin 2 PRDX2 7001 ENSG00000167815 prev. mapped to chr.13 Prdx2 (MGI:109486) -chr19 12806583 12813639 19p13.13 19p13.13 606034 RNASEH2A, RNHIA, AGS4 Ribonuclease H2, large subunit RNASEH2A 10535 ENSG00000104889 Aicardi-Goutieres syndrome 4, 610333 (3), Autosomal recessive Rnaseh2a (MGI:1916974) -chr19 12825481 12835427 19p13 19p13.13 609553 RTBDN Retbindin RTBDN 83546 ENSG00000132026 Rtbdn (MGI:2443686) -chr19 12838514 12874951 19p13.2 19p13.13 612256 MAST1, SAST, KIAA0973, MCCCHCM Microtubule-associated serine/threonine kinase 1 MAST1 22983 ENSG00000105613 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3), Autosomal dominant Mast1 (MGI:1861901) -chr19 12875208 12881448 19p13.2-q13.4 19p13.13 126350 DNASE2, DNL Deoxyribonuclease II, lysosomal DNASE2 1777 ENSG00000105612 Dnase2a (MGI:1329019) -chr19 12884421 12887200 19p13.13-p13.12 19p13.13 600599 KLF1, EKLF, INLU, HBFQTL6, CDAN4 Kruppel-like factor 1, erythroid KLF1 10661 ENSG00000105610 Blood group--Lutheran inhibitor, 111150 (3); Dyserythropoietic anemia, congenital, type IV, 613673 (3), Autosomal dominant; [Hereditary persistence of fetal hemoglobin], 613566 (3) Klf1 (MGI:1342771) -chr19 12891128 12899998 19p13.2 19p13.13 608801 GCDH Glutaryl-Coenzyme A dehydrogenase GCDH 2639 ENSG00000105607 Glutaricaciduria, type I, 231670 (3), Autosomal recessive Gcdh (MGI:104541) -chr19 12898228 12919673 19p13.13 19p13.13 611487 SYCE2, CESC1 Synaptonemal complex central element protein 2 SYCE2 256126 ENSG00000161860 Syce2 (MGI:1919096) -chr19 12922478 12933710 19p13.2 19p13.13 602918 FARSA, CML33, RILDBC2 Phenylalanine-tRNA synthetase, alpha subunit FARSA 2193 ENSG00000179115 mutation identified in 1 RILDBC2 ?Rajab interstitial lung disease with brain calcifications 2, 619013 (3), Autosomal recessive Farsa (MGI:1913840) -chr19 12938608 12944488 19p13.2 19p13.13 109091 CALR, SSA Sicca syndrome antigen A (autoantigen Ro; calreticulin) CALR 811 ENSG00000179218 distal to C3, near LDLR Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3) Calr (MGI:88252) -chr19 12945845 12953641 19p13.2 19p13.13 600061 RAD23A, HHR23A RAD23 homolog A, nucleotide excision repair protein RAD23A 5886 ENSG00000179262 Rad23a (MGI:105126) -chr19 12953118 12957222 19p13.13 19p13.13 605162 GADD45GIP1, PRG6, CRIF1 Growth arrest- and DNA damage-inducible DABB45G-interacting protein GADD45GIP1 90480 ENSG00000179271 Gadd45gip1 (MGI:1914947) -chr19 12969575 12974759 19p13.2-p13.13 19p13.13 609068 DAND5, CER2, CERL2, DANTE, COCO DAN domain family, member 5 DAND5 199699 ENSG00000179284 Dand5 (MGI:1344365) -chr19 12995474 13098795 19p13.3 19p13.13 164005 NFIX, NF1A, SOTOS2, MRSHSS Nuclear factor I/X (CCAAT-binding transcription factor) NFIX 4784 ENSG00000008441 Marshall-Smith syndrome, 602535 (3), Autosomal dominant; Sotos syndrome 2, 614753 (3), Autosomal dominant Nfix (MGI:97311) -chr19 13099032 13102857 19p13.2-p13.1 19p13.13 151440 LYL1 Lymphoblastic leukemia derived sequence-1 LYL1 4066 ENSG00000104903 Leukemia, T-cell acute lymphoblastoid, 151440 (2) Lyl1 (MGI:96891) -chr19 13104906 13116739 19p13.3 19p13.13 611669 TRMT1, TRM1, MRT68 tRNA methyltransferase 1 TRMT1 55621 ENSG00000104907 Mental retardation, autosomal recessive 68, 618302 (3), Autosomal recessive Trmt1 (MGI:1289155) -chr19 13116847 13141146 19p13.13 19p13.13 610672 NACC1, BTBD14B, NECFM Nucleus accumbens-associated protein 1, BEN and BTB/POZ domains-containing NACC1 112939 ENSG00000160877 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3), Autosomal dominant Nacc1 (MGI:1914080) -chr19 13144057 13150374 19p13.2 19p13.13 603765 STX10, SYN10 Syntaxin 10 STX10 8677 ENSG00000104915 -chr19 13206441 13506478 19p13 19p13.13 601011 CACNA1A, CACNL1A4, SCA6, DEE42 Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit CACNA1A 773 ENSG00000141837 Developemental and epileptic encephalopathy 42, 617106 (3), Autosomal dominant; Spinocerebellar ataxia 6, 183086 (3), Autosomal dominant; Episodic ataxia, type 2, 108500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, 141500 (3), Autosomal dominant Cacna1a (MGI:109482) -chr19 13764491 13774281 19p13.2 19p13.13 615105 MRI1, MRDI Methylthioribose-1-phosphate isomerase, S. cerevisiae, homolog of MRI1 84245 ENSG00000037757 Mri1 (MGI:1915123) -chr19 13836286 13836358 19p13.12 19p13.12 610724 MIR24-2, MIRN24-2 Micro RNA 24-2 MIR24-2 407013 ENSG00000284387 Mir24-2 (MGI:3618755) -chr19 13836439 13836516 19p13.12 19p13.12 612153 MIR27, MIRN27A Micro RNA 27A MIR27A 407018 ENSG00000207808 Mir27a (MGI:2676902) -chr19 13836586 13836658 19p13.13 19p13.12 607962 MIR23A, MIRN23A Micro RNA 23a MIR23A 407010 ENSG00000207980 Mir23a (MGI:2676897) -chr19 13862035 13880756 19p13.13 19p13.12 608229 NANOS3, NOS3 NANOS C2HC-type zinc finger 3 NANOS3 342977 ENSG00000187556 Nanos3 (MGI:2675387) -chr19 13874698 13874807 19p13.3 19p13.12 612746 MIR181C, MIRN181C Micro RNA 181C MIR181C 406957 ENSG00000207613 Mir181c (MGI:3618737) -chr19 13882347 13906126 19p13.12 19p13.12 619276 BRME1, C19orf57, MEIOK21 Break repair meiotic recombinase recruitment factor 1 BRME1 79173 ENSG00000132016 Brme1 (MGI:1921916) -chr19 13906148 13930878 19p13.12 19p13.12 610055 CC2D1A, MRT3 Coiled-coil and C2 domain-containing 1A CC2D1A 54862 ENSG00000132024 Mental retardation, autosomal recessive 3, 608443 (3), Autosomal recessive Cc2d1a (MGI:2384831) -chr19 13961529 14007513 19p13.1 19p13.12 600006 RFX1 Regulatory factor (trans-acting) 1 (influences HLA class II expression) RFX1 5989 ENSG00000132005 Rfx1 (MGI:105982) -chr19 14028147 14031550 19p13.3 19p13.12 606855 RLN3, H3, RXN3 Relaxin 3 RLN3 117579 ENSG00000171136 Rln3 (MGI:2158015) -chr19 14031761 14053217 19p13.11 19p13.12 605350 TCCR, WSX1 T-cell cytokine receptor IL27RA 9466 ENSG00000104998 Il27ra (MGI:1355318) -chr19 14091687 14117761 19p13.1 19p13.12 601639 PRKACA, CAFD1 Protein kinase, cAMP-dependent, catalytic, alpha PRKACA 5566 ENSG00000072062 Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3); Cardioacrofacial dysplasia 1, 619142 (3), Autosomal dominant Prkaca (MGI:97592) -chr19 14119511 14136588 19p13.13 19p13.12 609190 ASF1B Anti-silencing function 1, S. cerevisiae, homolog of, B ASF1B 55723 ENSG00000105011 Asf1b (MGI:1914179) -chr19 14147736 14206244 19p13.3 19p13.12 616416 ADGRL1, LPHN1, CIRL1, CL1, LEC2, KIAA0821 Adhesion G protein-coupled receptor L1 ADGRL1 22859 ENSG00000072071 Adgrl1 (MGI:1929461) -chr19 14381143 14408724 19p13.1 19p13.12 601211 ADGRE5, CD97 Adhesion G protein-coupled receptor E5 ADGRE5 976 ENSG00000123146 Adgre5 (MGI:1347095) -chr19 14433305 14471858 19p12 19p13.12 601032 PKN1, PRKCL1, PRK1, PAK1 Protein kinase N1 PKN1 5585 ENSG00000123143 Pkn1 (MGI:108022) -chr19 14472465 14475353 19p13.1 19p13.12 176802 PTGER1 Prostaglandin E receptor 1, EP1 subtype, 42kD PTGER1 5731 ENSG00000160951 Ptger1 (MGI:97793) -chr19 14477760 14496132 19p13.1 19p13.12 605072 GIPC1, RGS19IP1, C19orf3, OPDM2 GIPC PDZ domain-containing family member 1 GIPC1 10755 ENSG00000123159 Oculopharyngodistal myopathy 2, 618940 (3), Autosomal dominant Gipc1 (MGI:1926252) -chr19 14514768 14530596 19p13.2 19p13.12 604572 DNAJB1, HSPF1 DnaJ, E. coli, homolog of, subfamily B, member 1 (heat-shock 40kD protein 1) DNAJB1 3337 ENSG00000132002 Dnajb1 (MGI:1931874) -chr19 14527751 14565979 19p13.12 19p13.12 610057 TECR, GPSN2, TER, SC2, MRT14 Trans-2,3-enoyl-CoA reductase TECR 9524 ENSG00000099797 Mental retardation, autosomal recessive 14, 614020 (3), Autosomal recessive Tecr (MGI:1915408) -chr19 14566077 14572065 19p13.12-p13.11 19p13.12 603842 NDUFB7 NADH-ubiquinone oxidoreductase subunit B7 NDUFB7 4713 ENSG00000099795 Ndufb7 (MGI:1914166) -chr19 14580776 14612034 19p13.12 19p13.12 616838 CLEC17A C-type lectin domain family 17, member A CLEC17A 388512 ENSG00000187912 -chr19 14600174 14674859 19p13.1 19p13.12 606101 EMR3 EGF-like module-containing, mucin-like hormone receptor 3 ADGRE3 84658 ENSG00000131355 Adgre4 (MGI:1196464) -chr19 14689786 14733741 19p13.1 19p13.12 611811 ZNF333, KIAA1806 Zinc finger protein 333 ZNF333 84449 ENSG00000160961 -chr19 14732391 14778559 19p13.1 19p13.12 606100 ADGRE2, EMR2, VBU Adhesion G protein-coupled receptor E2 ADGRE2 30817 ENSG00000127507 Vibratory urticaria, 125630 (3), Autosomal dominant Adgre5 (MGI:1347095) -chr19 14950032 15010642 19p13.12 19p13.12 600637 SLC1A6, EAAT4 Solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 SLC1A6 6511 ENSG00000105143 Slc1a6 (MGI:1096331) -chr19 15049479 15058292 19p13.1 19p13.12 605848 CASP14, ARCI12 Caspase 14, apoptosis-related cysteine protease CASP14 23581 ENSG00000105141 Ichthyosis, congenital, autosomal recessive 12, 617320 (3), Autosomal recessive Casp14 (MGI:1335092) -chr19 15107400 15114984 19p13.12 19p13.12 617377 SYDE1 Synapse defective Rho GTPase, C. elegans, homolog of, 1 SYDE1 85360 ENSG00000105137 Syde1 (MGI:1918959) -chr19 15114981 15125785 19p13.1 19p13.12 605770 ILVBL, AHAS IlvB-like (acetolactate synthase, bacterial, homolog of) ILVBL 10994 ENSG00000105135 Ilvbl (MGI:1351911) -chr19 15159037 15200994 19p13.2-p13.1 19p13.12 600276 NOTCH3, CADASIL1, CASIL, IMF2, LMNS Notch, Drosophila, homolog of, 3 NOTCH3 4854 ENSG00000074181 mutation identified in 1 IMF2 family Lateral meningocele syndrome, 130720 (3), Autosomal dominant; ?Myofibromatosis, infantile 2, 615293 (3), Autosomal dominant; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3), Autosomal dominant Notch3 (MGI:99460) -chr19 15226918 15233452 19p13.12 19p13.12 617400 EPHX3, ABHD9 Epoxide hydrolase 3 EPHX3 79852 ENSG00000105131 Ephx3 (MGI:1919182) -chr19 15235518 15332538 19p13.1 19p13.12 608749 BRD4, CAP, HUNK1 Bromodomain-containing protein 4 BRD4 23476 ENSG00000141867 fused with NUT Brd4 (MGI:1888520) -chr19 15353384 15379786 19p13.12 19p13.12 604692 AKAP8, AKAP95 A-kinase anchor protein 8 AKAP8 10270 ENSG00000105127 Akap8 (MGI:1928488) -chr19 15380049 15418987 19p13.12-p13.11 19p13.12 609475 AKAP8L, HA95, NAKAP, HAP95 A-kinase anchor protein 8-like protein AKAP8L 26993 ENSG00000011243 Akap8l (MGI:1860606) -chr19 15451623 15464570 19p13.12 19p13.12 616561 RASAL3 Ras protein activator-like 3 RASAL3 64926 ENSG00000105122 Rasal3 (MGI:2444128) -chr19 15468644 15479500 19p13.12 19p13.12 608199 PGRPL Peptidoglycan recognition protein, long PGLYRP2 114770 ENSG00000161031 Pglyrp2 (MGI:1928099) -chr19 15508486 15552316 19p13.12 19p13.12 611495 CYP4F22, ARCI5, LI3 Cytochrome P450, family 4, subfamily F, polypeptide 22 CYP4F22 126410 ENSG00000171954 Ichthyosis, congenital, autosomal recessive 5, 604777 (3), Autosomal recessive Cyp4f39 (MGI:2445210) -chr19 15615206 15630638 19p13.1 19p13.12 611545 CYP4F8 Cytochrome P450, family 4, subfamily F, polypeptide 8 CYP4F8 11283 ENSG00000186526 Cyp4f14 (MGI:1927669) -chr19 15640896 15662824 19p13.2 19p13.12 601270 CYP4F3, LTB4H Cytochrome P450, subfamily IVF, polypeptide 3 CYP4F3 4051 ENSG00000186529 Cyp4f18 (MGI:1919304) -chr19 15673022 15698818 19p13.1 19p13.12 611485 CYP4F12 Cytochrome P450, family 4, subfamily F, polypeptide 12 CYP4F12 66002 ENSG00000186204 Cyp4f14,Cyp4f40,Cyp4f15 (MGI:2146921,MGI:3645508,MGI:1927669) -chr19 15828946 15836320 19p13.12 19p13.12 617500 UCA1, LINC00178, CUDR Urothelial cancer-associated gene 1 UCA1 652995 ENSG00000214049 -chr19 15878022 15898073 19p13.12 19p13.12 604426 CYP4F2 Cytochrome P450, family 4, subfamily F, polypeptide 2 CYP4F2 8529 ENSG00000186115 Cyp4f14,Cyp4f40,Cyp4f15 (MGI:2146921,MGI:3645508,MGI:1927669) -chr19 15912376 15934866 19p13.1 19p13.12 611517 CYP4F11 Cytochrome P450, family 4, subfamily F, polypeptide 11 CYP4F11 57834 ENSG00000171903 Cyp4f14,Cyp4f40,Cyp4f15 (MGI:2146921,MGI:3645508,MGI:1927669) -chr19 16067506 16103004 19p13.1 19p13.12-p13.11 600317 TPM4 Tropomyosin 4 TPM4 7171 ENSG00000167460 Tpm4 (MGI:2449202) -chr19 16100000 19900000 19p13 606674 IBD6 Inflammatory bowel disease 6 50942 {Inflammatory bowel disease 6}, 606674 (2) -chr19 16100000 19900000 19p13 607508 MGR5 Migraine with or without aura, susceptibility to, 5 387576 {Migraine with or without aura, susceptibility to, 5}, 607508 (2), Autosomal dominant -chr19 16100000 19900000 19p13 615830 PPNAD4 Pigmented nodular adrenocortical disease, primary, 4 duplication of 294kb to 2.7Mb on 19p13 Pigmented nodular adrenocortical disease, primary, 4, 615830 (4), Autosomal dominant -chr19 16100000 19900000 19p13 605364 PSORS6 Psoriasis susceptibility 6 63869 {Psoriasis susceptibility 6}, 605364 (2) -chr19 16100000 24200000 19p13.1-p12 603992 ZNF110 Zinc finger protein-110 -chr19 16100000 24200000 19p13.1-p12 603993 ZNF111 Zinc finger protein-111 -chr19 16100000 24200000 19p13.1-p12 603995 ZNF113 Zinc finger protein-113 ?13q21 -chr19 16100000 24200000 19p13.1-p12 603997 ZNF118 Zinc finger protein-118 ?13q21 -chr19 16100000 24200000 19p13.1-p12 603998 ZNF119 Zinc finger protein-119 -chr19 16100000 24200000 19p13.1-p12 603999 ZNF120 Zinc finger protein-120 -chr19 16100000 24200000 19p13.1-p12 604000 ZNF122 Zinc finger protein-122 -chr19 16100000 24200000 19p13.1-p12 603976 ZNF94 Zinc finger protein-94 -chr19 16111888 16134233 19p13.2-cen 19p13.11 165040 RAB8A, MEL Ras-associated protein RAB8A (oncogene MEL) RAB8A 4218 ENSG00000167461 Rab8a (MGI:96960) -chr19 16134027 16158574 19q13.2 19p13.11 608349 HSH2D, ALX Hemotopoietic SH2 domain-containing protein HSH2D 84941 ENSG00000196684 Hsh2d (MGI:2676364) -chr19 16161367 16173524 19p13.11 19p13.11 610645 CIB3, KIP3 Calcium- and integrin-binding protein 3 CIB3 117286 ENSG00000141977 Cib3 (MGI:2685953) -chr19 16185183 16192045 19p13.12 19p13.11 614554 FAM32A, OTAG12 Family with sequence similarity 32, member A FAM32A 26017 ENSG00000105058 Fam32a (MGI:1915172) -chr19 16197910 16245905 19p13.12 19p13.11 603535 AP1M1, AP47, CLAPM2 Adaptor-related protein complex 1, mu 1 subunit AP1M1 8907 ENSG00000072958 Ap1m1 (MGI:102776) -chr19 16324825 16328684 19p13.1 19p13.11 602016 KLF2, LKLF Kruppel-like factor 2 KLF2 10365 ENSG00000127528 Klf2 (MGI:1342772) -chr19 16355243 16472011 19p13.11 19p13.11 616826 EPS15L1, EPS15R EPS15-like protein 1 EPS15L1 58513 ENSG00000127527 Eps15l1 (MGI:104582) -chr19 16479060 16496166 19p13.12 19p13.11 611414 CALR3, CRT2 Calreticulin 3 CALR3 125972 ENSG00000269058 Calr3 (MGI:1920566) -chr19 16517893 16542436 19p13.1 19p13.11 618539 CHERP Calcium homeostasis endoplasmic reticulum protein CHERP 10523 ENSG00000085872 Cherp (MGI:106417) -chr19 16574918 16628203 19p13.11 19p13.11 605043 MED26, CRSP7, CRSP70 Mediator complex subunit 26 MED26 9441 ENSG00000105085 Med26 (MGI:1917875) -chr19 16661138 16690022 19p13.11 19p13.11 611235 TMEM38A, TRICA Transmembrane protein 38A TMEM38A 79041 ENSG00000072954 Tmem38a (MGI:1921416) -chr19 16719525 16817962 19p13.11 19p13.11 616250 NWD1 NACHT domain- and WD repeat-containing protein 1 NWD1 284434 ENSG00000188039 Nwd1 (MGI:2442268) -chr19 16829397 16880354 19p13.11 19p13.11 607777 SIN3B, KIAA0700 Sin3, yeast, homolog of, B SIN3B 23309 ENSG00000127511 Sin3b (MGI:107158) -chr19 16888998 16892605 19p12 19p13.11 602779 F2RL3, PAR4 Coagulation factor II, thrombin, receptor-like 3 (protease-activated receptor-4) F2RL3 9002 ENSG00000127533 F2rl3 (MGI:1298207) -chr19 16892950 17026817 19p13.11 19p13.11 608841 CPAMD8, KIAA1283, ASGD8 Complement component 3- and pregnancy zone protein-like alpha-2-macroglobin domain-containing protein 8 CPAMD8 27151 ENSG00000160111 Anterior segment dysgenesis 8, 617319 (3), Autosomal recessive -chr19 17049728 17075605 19p13.11 19p13.11 613434 HAUS8, DGT4, HICE1 HAUS augmin-like complex, subunit 8 HAUS8 93323 ENSG00000131351 Haus8 (MGI:1923728) -chr19 17075776 17213285 19p13.1 19p13.11 602129 MYO9B, MYR5, CELIAC4 Myosin IXB MYO9B 4650 ENSG00000099331 {Celiac disease, susceptibility to, 4}, 609753 (3) Myo9b (MGI:106624) -chr19 17215345 17219830 19p13.11 19p13.11 610675 USE1, MDS032 Unconventional SNARE in the ER 1 USE1 55850 ENSG00000053501 Use1 (MGI:1914273) -chr19 17231882 17245918 19p13.1 19p13.11 132880 NR2F6, ERBAL2, EAR2 Nuclear receptor subfamily 2, group F, member 6 NR2F6 2063 ENSG00000160113 Nr2f6 (MGI:1352453) -chr19 17249170 17264752 19p13.1 19p13.11 611810 USHBP1, MCC2 USH1C-binding protein 1 USHBP1 83878 ENSG00000130307 Ushbp1 (MGI:1922920) -chr19 17267442 17279336 19p13.11 19p13.11 612766 C10orf62, MERIT40, NBA1 Chromosome 19 open reading frame 62 BABAM1 29086 ENSG00000105393 Babam1 (MGI:1915501) -chr19 17281900 17287645 19p13.11 19p13.11 619348 ANKLE1, LEM3 Ankyrin repeat- and LEM domain-containing protein 1 ANKLE1 126549 ENSG00000160117 Ankle1 (MGI:1918775) -chr19 17302864 17306842 19p13.1 19p13.11 611840 MRPL34 Mitochondrial ribosomal protein L34 MRPL34 64981 ENSG00000130312 Mrpl34 (MGI:2137227) -chr19 17323222 17334854 19p13.11 19p13.11 610216 TMEM16H, KIAA1623 Transmembrane protein 16H ANO8 57719 ENSG00000074855 Ano8 (MGI:2687327) -chr19 17334981 17342730 19p13.11 19p13.11 608536 GTPBP3, MSS1, COXPD23 GTP-binding protein 3 GTPBP3 84705 ENSG00000130299 Combined oxidative phosphorylation deficiency 23, 616198 (3), Autosomal recessive Gtpbp3 (MGI:1917609) -chr19 17351454 17377341 19p13.2 19p13.11 607647 PLVAP, PV1, DIAR10 Plasmalemma vesicle-associated protein PLVAP 83483 ENSG00000130300 Diarrhea 10, protein-losing enteropathy type, 618183 (3), Autosomal recessive Plvap (MGI:1890497) -chr19 17402938 17405629 19p13.2 19p13.11 600534 BST2 Bone marrow stromal cell antigen BST2 684 ENSG00000130303 Bst2 (MGI:1916800) -chr19 17455424 17460925 19p13.11 19p13.11 608791 NXNL1, RDCVF, TXNL6, LOC115861 Nucleoredoxin-like protein 1 NXNL1 115861 ENSG00000171773 Nxnl1 (MGI:1924446) -chr19 17468744 17506168 19p13.1 19p13.11 600691 SLC27A1, FATP, FATP1 Solute carrier family 27, member 1 SLC27A1 376497 ENSG00000130304 Slc27a1 (MGI:1347098) -chr19 17511648 17521290 19p13.2 19p13.11 604951 PGLS 6-phosphogluconolactonase PGLS 25796 ENSG00000130313 Pgls (MGI:1913421) -chr19 17523300 17556754 19p13.11 19p13.11 609967 BCNP1 B-cell novel protein 1 NIBAN3 199786 ENSG00000167483 Niban3 (MGI:3686743) -chr19 17555648 17583158 19p13.11 19p13.11 617531 COLGALT1, GLT25D1, BSVD3 Collagen beta(1-0)galactosyltransferase 1 COLGALT1 79709 ENSG00000130309 Brain small vessel disease 3, 618360 (3), Autosomal recessive Colgalt1 (MGI:1924348) -chr19 17601327 17688353 19p13.3 19p13.11 609894 UNC13A, KIAA1032 UNC13, C. elegans, homolog of, A UNC13A 23025 ENSG00000130477 Unc13a (MGI:3051532) -chr19 17719479 17734512 19p13.11 19p13.11 607573 MAP1S, BPY2IP1, VCY2IP1, C19orf5 Microtubule-associated protein 1S MAP1S 55201 ENSG00000130479 Map1s (MGI:2443304) -chr19 17747743 17788561 19p13.11 19p13.11 613437 FCHO1, IMD76 FCH domain-only protein 1 FCHO1 23149 ENSG00000130475 Immunodeficiency 76, 619164 (3), Autosomal recessive Fcho1 (MGI:1921265) -chr19 17794827 17813575 19p 19p13.11 605863 TMEM3, B3GNT3 Transmembrane protein 3 (beta-1,3-N-acetylglucosaminyltransferase 3) B3GNT3 10331 ENSG00000179913 B3gnt3 (MGI:2152535) -chr19 17816511 17821518 19p13.2 19p13.11 146738 INSL3 Insulin-like 3, Leydig cell INSL3 3640 ENSG00000248099 Cryptorchidism, 219050 (3), Autosomal dominant Insl3 (MGI:108427) -chr19 17824781 17848070 19p13.1 19p13.11 600173 JAK3, JAKL Janus kinase 3 (Janus kinase, leukocyte) JAK3 3718 ENSG00000105639 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3), Autosomal recessive Jak3 (MGI:99928) -chr19 17859909 17863318 19p 19p13.11 604178 RPL18A Ribosomal protein L18a RPL18A 6142 ENSG00000105640 Rpl18a (MGI:1924058) -chr19 17871393 17895174 19p13.2-p12 19p13.11 601843 SLC5A5, NIS, TDH1 Solute carrier family 5 (sodium iodide symporter), member-5 SLC5A5 6528 ENSG00000105641 Thyroid dyshormonogenesis 1, 274400 (3), Autosomal recessive Slc5a5 (MGI:2149330) -chr19 17951289 18000084 19p13.11 19p13.11 602982 KCNN1 Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 1 KCNN1 3780 ENSG00000105642 Kcnn1 (MGI:1933993) -chr19 18058993 18099026 19p13.1 19p13.11 601604 IL12RB1, IMD30 Interleukin-12 receptor, beta-1 IL12RB1 3594 ENSG00000096996 Immunodeficiency 30, 614891 (3), Autosomal recessive Il12rb1 (MGI:104579) -chr19 18097777 18151691 19p13.11 19p13.11 612258 MAST3, KIAA0561 Microtubule-associated serine/threonine kinase 3 MAST3 23031 ENSG00000099308 Mast3 (MGI:2683541) -chr19 18153162 18170531 19q13.2-q13.4 19p13.11 603157 PIK3R2, MPPH1 Phosphatidylinositol 3-kinase, regulatory subunit 2 PIK3R2 5296 ENSG00000105647 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3), Autosomal dominant Pik3r2 (MGI:1098772) -chr19 18173812 18178116 19p13.11 19p13.11 604664 IFI30, GILT Interferon-gamma-inducible protein 30 IFI30 10437 ENSG00000216490 Ifi30 (MGI:2137648) -chr19 18193217 18196947 19p13.11 19p13.11 616133 MPV17L2 MPV17 mitochondrial inner membrane protein-like 2 MPV17L2 84769 ENSG00000254858 Mpv17l2 (MGI:2681846) -chr19 18196783 18204041 19p13.1-p12 19p13.11 179490 RAB3A RAS-associated protein RAB3A RAB3A 5864 ENSG00000105649 Rab3a (MGI:97843) -chr19 18207964 18248199 19p13.1 19p13.11 600128 PDE4C, DPDE1 Phosphodiesterase-4C, cAMP-specific (dunce, Drosophila, homolog phosphodiesterase E1) PDE4C 5143 ENSG00000105650 between JUND (proximal) and RAB3A (distal) Pde4c (MGI:99556) -chr19 18279693 18281621 19p13.1-p12 19p13.11 165162 JUND Jun D proto-oncogene, AP-1 transcription factor subunit JUND 3727 ENSG00000130522 Jund (MGI:96648) -chr19 18306235 18323075 19p13.11 19p13.11 607284 LSM4 LSM4 protein LSM4 25804 ENSG00000130520 Lsm4 (MGI:1354692) -chr19 18340597 18369949 19p13.11 19p13.11 610694 PGPEP1, PCP, PGP Pyroglutamyl peptidase I PGPEP1 54858 ENSG00000130517 Pgpep1 (MGI:1913772) -chr19 18382169 18389175 19p13.2-p13.1 19p13.11 605312 GDF15, PLAB, PDF, MIC1 Growth/differentiation factor-15 (bone morphogenetic protein, placental) GDF15 9518 ENSG00000130513 Gdf15 (MGI:1346047) -chr19 18391136 18397644 19p13.2-p12 19p13.11 607518 LRRC25, MAPA Leucine rich repeat containing 25 LRRC25 126364 ENSG00000175489 Lrrc25 (MGI:2445284) -chr19 18418718 18434561 19p13.1 19p13.11 607391 SSBP4 Single-stranded DNA-binding protein 4 SSBP4 170463 ENSG00000130511 Ssbp4 (MGI:1924150) -chr19 18434387 18438648 19p13.1 19p13.11 611670 ISYNA1, IPS Myoinositol 1-phosphate synthase A1 ISYNA1 51477 ENSG00000105655 pseudogene on 4p15 Isyna1 (MGI:1919030) -chr19 18442662 18522069 19p13.1 19p13.11 600284 ELL ELL gene (11-19 lysine-rich leukemia gene) ELL 8178 ENSG00000105656 Ell (MGI:109377) -chr19 18531762 18543572 19p12 19p13.11 604840 FKBP8, FKBP38 FK506-binding protein 8 FKBP8 23770 ENSG00000105701 pseudogene on 1q32 Fkbp8 (MGI:1341070) -chr19 18557761 18569380 19p13.11 19p13.11 615178 KXD1, C10orf50 KXDL motif-containing protein 1 KXD1 79036 ENSG00000105700 Kxd1 (MGI:1922870) -chr19 18563765 18577549 19p13.1-p12 19p13.11 191321 UBA52 Ubiquitin A-52 residue ribosomal protein fusion product 1 UBA52 7311 ENSG00000221983 Uba52 (MGI:98887) -chr19 18593236 18606798 19p12 19p13.11 604237 CRLF1, CISS1 Cytokine-like factor 1 CRLF1 9244 ENSG00000006016 Cold-induced sweating syndrome 1, 272430 (3), Autosomal recessive Crlf1 (MGI:1340030) -chr19 18612869 18621039 19p12 19p13.11 617096 TMEM59L, BSMAP Transmembrane protein 59-like TMEM59L 25789 ENSG00000105696 Tmem59l (MGI:1915187) -chr19 18683620 18782332 19p13 19p13.11 607536 CRTC1, MECT1, KIAA0616, FLJ14027 CREB-regulated transcription coactivator 1 CRTC1 23373 ENSG00000105662 t(11;19) Mucoepidermoid salivary gland carcinoma (3) Crtc1 (MGI:2142523) -chr19 18782772 18791304 19p13.1 19p13.11 600310 COMP, EDM1, MED, PSACH, CTS2 Cartilage oligomeric matrix protein COMP 1311 ENSG00000105664 Pseudoachondroplasia, 177170 (3), Autosomal dominant; Carpal tunnel syndrome 2, 619161 (3), Autosomal dominant; Epiphyseal dysplasia, multiple, 1, 132400 (3), Autosomal dominant Comp (MGI:88469) -chr19 18831404 18868229 19p13.2-p13.11 19p13.11 601430 UPF1, RENT1, HUPF1 UPF1 RNA helicase and ATPase UPF1 5976 ENSG00000005007 Upf1 (MGI:107995) -chr19 18868544 18896981 19p12 19p13.11 606919 CERS1, LASS1, UOG1, EPM8 Ceramide synthase 1 CERS1 10715 ENSG00000223802 mutation identified in 1 EPM8 family ?Epilepsy, progressive myoclonic, 8, 616230 (3), Autosomal recessive Cers1 (MGI:2136690) -chr19 18868544 18896157 19p12 19p13.11 602880 GDF1, DTGA3, DORV, RAI, CHTD6 Growth/differentiation factor 1 GDF1 2657 ENSG00000130283 Congenital heart defects, multiple types, 6, 613854 (3), Autosomal dominant; Right atrial isomerism (Ivemark), 208530 (3), Autosomal recessive Gdf1 (MGI:95683) -chr19 18899513 18919386 19p13.11 19p13.11 606942 COPE Cotamer protein complex, subunit epsilon COPE 11316 ENSG00000105669 Cope (MGI:1891702) -chr19 18929200 18941257 19p13.11 19p13.11 604800 HOMER3 Homer scaffold protein 3 HOMER3 9454 ENSG00000051128 Homer3 (MGI:1347359) -chr19 18990886 19034037 19p13.11 19p13.11 607993 SUGP2, SRFS14, KIAA0365 SURP and G-patch domains-containing protein 2 SUGP2 10147 ENSG00000064607 Sugp2 (MGI:2678085) -chr19 19063993 19113029 19p13.11 19p13.11 610823 SLC25A42, MECREN Solute carrier family 25, member 42 SLC25A42 284439 ENSG00000181035 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 (3), Autosomal recessive Slc25a42 (MGI:1920345) -chr19 19119168 19138477 19p13.11 19p13.11 618966 TMEM161A, AROS29 Transmembrane protein 161A TMEM161A 54929 ENSG00000064545 Tmem161a (MGI:2384577) -chr19 19145566 19170262 19p12 19p13.11 600661 MEF2B MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B) MEF2B 100271849 ENSG00000213999 Mef2b,Mef2bl (MGI:104526,MGI:5825566) -chr19 19176905 19192151 19p13.11 19p13.11 616601 BORCS8, MEF2BNB BLOC1-related complex, subunit 8 BORCS8 729991 ENSG00000254901 Borcs8 (MGI:1919618) -chr19 19192257 19201868 19p12 19p13.11 603200 RFXANK Regulatory factor X, ankyrin repeat-containing RFXANK 8625 ENSG00000064490 MHC class II deficiency, complementation group B, 209920 (3), Autosomal recessive Rfxank (MGI:1333865) -chr19 19201408 19203413 19p13.11 19p13.11 608719 NR2C2AP, TRA16 Nuclear receptor 2C2 associated protein NR2C2AP 126382 ENSG00000184162 Nr2c2ap (MGI:1922942) -chr19 19211957 19252232 19p12 19p13.11 600826 CSPG3, NCAN Chondroitin sulfate proteoglycan 3 (neurocan) NCAN 1463 ENSG00000130287 Ncan (MGI:104694) -chr19 19264365 19273300 19p12 19p13.11 606563 TM6SF2, KIAA1926 Transmembrane 6 superfamily, member 2 TM6SF2 53345 ENSG00000213996 Tm6sf2 (MGI:1933210) -chr19 19276032 19320508 19p13.11 19p13.11 607992 SUGP1, SF4 SURP and G-patch domains-containing protein 1 SUGP1 57794 ENSG00000105705 Sugp1 (MGI:1917866) -chr19 19320606 19358753 19p13.11 19p13.11 614560 MAU2, SCC4, KIAA0892 MAU2 chromatid cohesion factor MAU2 23383 ENSG00000129933 Mau2 (MGI:1921799) -chr19 19385842 19508931 19q13.11 19p13.11 614997 GATAD2A GATA zinc finger domain-containing protein 2A GATAD2A 54815 ENSG00000167491 Gatad2a (MGI:2384585) -chr19 19514218 19515547 19p13.11 19p13.11 610712 TSSK6, SSTK, TSSK4 Testis-specific serine/threonine kinase 6 TSSK6 83983 ENSG00000178093 Tssk6 (MGI:2148775) -chr19 19516224 19528197 19p13.2-p13.1 19p13.11 609435 NDUFA13, GRIM19, MC1DN28 NADH-ubiquinone oxidoreductase subunit A13 NDUFA13 51079 ENSG00000186010 mutation identified in 1 MC1DN28 family {Thyroid carcinoma, Hurthle cell}, 607464 (3); ?Mitochondrial complex I deficiency, nuclear type 28, 618249 (3), Autosomal recessive Ndufa13 (MGI:1914434) -chr19 19528900 19537583 19p13.11 19p13.11 618607 YJEFN3 Yjef N-terminal domain-containing protein 3 YJEFN3 374887 ENSG00000250067 Yjefn3,Ndufa13 (MGI:2681845,MGI:1914434) -chr19 19538264 19546658 19p13.11 19p13.11 612419 CILP2 Cartilage intermediate layer protein 2 CILP2 148113 ENSG00000160161 Cilp2 (MGI:1915959) -chr19 19561712 19618689 19p13.11 19p13.11 608127 PBX4 Pre-B-cell leukemia transcription factor 4 PBX4 80714 ENSG00000105717 Pbx4 (MGI:1931321) -chr19 19623654 19628394 19p12 19p13.11 605110 LPAR2, EDG4 Lysophosphatidic acid receptor 2 LPAR2 9170 ENSG00000064547 Lpar2 (MGI:1858422) -chr19 19629475 19643656 19p12-p11 19p13.11 609694 GMIP GEM-interacting protein GMIP 51291 ENSG00000089639 Gmip (MGI:1926066) -chr19 19645197 19663675 19p13.11 19p13.11 619118 ATP13A1 ATPase 13A1 ATP13A1 57130 ENSG00000105726 Atp13a1 (MGI:2180801) -chr19 19668069 19683505 19p13.1-p12 19p13.11 603983 ZNF101 Zinc finger protein-101 ZNF101 94039 ENSG00000181896 AU041133,5730507C01Rik,Gm14325,Zfp971,Gm14305,Zfp970,Zfp119a,AW146154,Zfp119b,Gm14322,Zfp933,Zfp932,Zfp976,Zfp935,Zfp934,Zfp951,Zfp975,Zfp931,Zfp930,Zfp959,Zfp937,2010315B03Rik,Zfp958,Zfp936,Zfp938,Zfp97,Gm6710,Gm14391,Zfp960,Gm3604,Zfp120,AI987944,Gm10778,Zfp825,Zfp968,Zfp345,Zfp961 (MGI:3702875,MGI:3809656,MGI:1919321,MGI:3782903,MGI:1917882,MGI:3621440,MGI:1916754,MGI:3648690,MGI:2385315,MGI:2142212,MGI:2142079,MGI:2385298,MGI:2385058,MGI:3652185,MGI:1922865,MGI:3709632,MGI:1345189,MGI:2441662,MGI:2675306,MGI:1924367,MGI:105921,MGI:3052731,MGI:3779623,MGI:3644476,MGI:3642994,MGI:1261426,MGI:1918758,MGI:3652255,MGI:2385323,MGI:2143755,MGI:3036263,MGI:3709324,MGI:3652219,MGI:1345179,MGI:3583954,MGI:2441896,MGI:3781781) -chr19 19710471 19733111 19p13.3-p13.2 19p13.11 194556 ZNF14, KOX6 Zinc finger protein-14 (KOX 6) ZNF14 7561 ENSG00000105708 Zfp997,Gm14391,Gm14124 (MGI:3652002,MGI:3642406,MGI:3709324) -chr19 19756370 19776412 19p13.11 19p13.11 617117 LINC00663 Long intergenic noncoding RNA 663 LINC00663 284440 -chr19 19865829 19894673 19p13 19p13.11 606954 ZNF253 Zinc finger protein 253 ZNF253 56242 ENSG00000256771 -chr19 19900945 19935574 19p13.1-p12 19p12 603975 ZNF93 Zinc finger protein-93 ZNF93 81931 ENSG00000184635 Rsl1,Zfp429,Zfp874b,Zfp874a,Zfp456,Zfp455,Zfp87,Zfp708 (MGI:107768,MGI:3040708,MGI:3040694,MGI:3040674,MGI:3040702,MGI:1920057,MGI:3044162,MGI:3040703) -chr19 20077999 20127089 19p13.1-p12 19p12 603973 ZNF90 Zinc finger protein-90 ZNF90 7643 ENSG00000213988 -chr19 20531229 20565820 19p13.1-p12 19p12 603984 ZNF737, ZNF102 Zinc finger protein-737 ZNF737 100129842 ENSG00000237440 -chr19 20923226 20950696 19p13.1-p12 19p12 603899 ZNF85 Zinc finger protein-85 ZNF85 7639 ENSG00000105750 Zfp457,Zfp595,Zfp738 (MGI:3040706,MGI:3040707,MGI:2664334) -chr19 21722770 21767578 19p13.1-p12 19p12 603982 ZNF100 Zinc finger protein-100 ZNF100 163227 ENSG00000197020 -chr19 21804945 21852094 19p13.1-p12 19p12 603972 ZNF43 Zinc finger protein-43 ZNF43 7594 ENSG00000198521 Zfp748,Zfp759,Zfp729a,Zfp458,Zfp457,Zfp595,Zfp738 (MGI:3040706,MGI:2446280,MGI:3040691,MGI:3040707,MGI:2664334,MGI:3036250,MGI:1916455) -chr19 21939814 22010942 19p13.1-p12 19p12 603977 ZNF208, ZNF95 Zinc finger protein-208 ZNF208 7757 ENSG00000160321 Zfp748,Zfp759,Zfp729a,Zfp457,Zfp595,Zfp738 (MGI:3040706,MGI:2446280,MGI:3040707,MGI:2664334,MGI:3036250,MGI:1916455) -chr19 22052483 22091479 19p12 19p12 606957 ZNF257 Zinc finger protein 257 ZNF257 113835 ENSG00000197134 -chr19 22391018 22422345 19p12 19p12 603980 ZNF98 Zinc finger protein-98 ZNF98 148198 ENSG00000197360 -chr19 22752182 22784150 19p12 19p12 603981 ZNF99 Zinc finger protein-99 ZNF99 7652 ENSG00000213973 Zfp748,Zfp759,Zfp729a,Zfp458,Zfp457,Zfp595,Zfp738 (MGI:3040706,MGI:2446280,MGI:3040691,MGI:3040707,MGI:2664334,MGI:3036250,MGI:1916455) -chr19 23305003 23395526 19p13.1-p12 19p12 603971 ZNF91 Zinc finger protein-91 ZNF91 7644 ENSG00000167232 Zfp748,Zfp759,Zfp729a,Zfp458,Zfp457,Zfp595,Zfp729b,Zfp738 (MGI:3040706,MGI:2446280,MGI:3040691,MGI:3040707,MGI:2145180,MGI:2664334,MGI:3036250,MGI:1916455) -chr19 24033415 24129967 19p13.12-p13.11 19p12 604768 ZNF254, ZNF91L Zinc finger protein-254 ZNF254 9534 ENSG00000213096 Rsl1,Zfp429,Zfp874b,Zfp874a,Zfp456,Zfp455,Zfp87,Zfp708 (MGI:107768,MGI:3040708,MGI:3040694,MGI:3040674,MGI:3040702,MGI:1920057,MGI:3044162,MGI:3040703) -chr19 26200000 58617616 19q 601764 BFIS1, BFIC1 Benign familial infantile seizures 8181 Seizures, benign familial infantile, 1, 601764 (2), Autosomal dominant -chr19 26200000 58617616 19q 607592 HPCQTL19 Prostate cancer aggressiveness quantitative trait locus on chromosome 19 347747 D19S902 {Prostate cancer aggressiveness QTL}, 607592 (2) -chr19 26200000 58617616 19q 606712 SLI2 Specific language impairment QTL, 2 171014 Specific language impairment QTL, 2, 606712 (2), Multifactorial -chr19 28100000 31900000 19q12 606875 HSCR7 Hirschsprung disease, susceptibility to, 7 246322 {Hirschsprung disease, susceptibility to, 7}, 606875 (2) -chr19 29205319 29213150 19q12 19q12 191327 UQCRFS1, MC3DN10 Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 UQCRFS1 7386 ENSG00000169021 Mitochondrial complex III deficiency, nuclear type 10, 618775 (3), Autosomal recessive Uqcrfs1 (MGI:1913944) -chr19 29606282 29617236 19q12 19q12 606114 POP4, RPP29 POP4 homolog, ribonuclease P/MRP subunit POP4 10775 ENSG00000105171 Pop4 (MGI:1913411) -chr19 29665421 29675476 19q11 19q12 615200 PLEKHF1, LAPF, PHAFIN1 Pleckstrin homolog domain-containing protein, family F, member 1 PLEKHF1 79156 ENSG00000166289 Plekhf1 (MGI:1919537) -chr19 29698885 29715788 19q12 19q12 614297 C19orf12, NBIA4, SPG43 Chromosome 19 open reading frame 12 C19orf12 83636 ENSG00000131943 mutation identified in 1 SPG43 family Neurodegeneration with brain iron accumulation 4, 614298 (3), Autosomal dominant, Autosomal recessive; ?Spastic paraplegia 43, autosomal recessive, 615043 (3), Autosomal recessive 1600014C10Rik (MGI:1919494) -chr19 29811990 29824311 19q13.1 19q12 123837 CCNE1 Cyclin E1 CCNE1 898 ENSG00000105173 Ccne1 (MGI:88316) -chr19 29923649 30016611 19q12 19q12 603494 URI1, NNX3, RMP Prefoldin-like chaperone URI1 URI1 8725 ENSG00000105176 Uri1 (MGI:1342294) -chr19 30224235 30713585 19q12 19q12 618037 ZNF536, KIAA0390 Zinc finger protein 536 ZNF536 9745 ENSG00000198597 Zfp536 (MGI:1926102) -chr19 31149875 31349435 19q13.11 19q12 614119 TSHZ3, KIAA1474 Teashirt zinc finger homeobox 3 TSHZ3 57616 ENSG00000121297 Tshz3 (MGI:2442819) -chr19 31900000 35100000 19q13.11 613026 DEL19q13.11d, C19DELq13.11d Chromosome 19q13.11 deletion syndrome, distal contiguous gene syndrome Chromosome 19q13.11 deletion syndrome, distal, 613026 (4), Autosomal dominant -chr19 31900000 35100000 19q13.11 617219 DEL19q13.11p, C19DELq13.11p Chromosome 19q13.11 deletion syndrome, proximal Chromosome 19q13.11 deletion syndrome, proximal, 617219 (4), Autosomal dominant -chr19 32405764 32485889 19q13.11 19q13.11 613894 DPY19L3 DPY19-like 3 DPY19L3 147991 ENSG00000178904 Dpy19l3 (MGI:2443952) -chr19 32581189 32587452 19q13.11 19q13.11 604583 PDCD5, TFAR19 Programmed cell death 5 PDCD5 9141 ENSG00000105185 Pdcd5,Pdcd5-ps (MGI:3782009,MGI:1913538) -chr19 32597004 32675214 19q13.11 19q13.11 618957 ANKRD27, VARP Ankyrin repeat domain-containing protein 27 ANKRD27 84079 ENSG00000105186 Ankrd27 (MGI:2444103) -chr19 32675847 32678299 19q13.11 19q13.11 607814 RGS9BP, R9AP, RGS9, PERRS Regulator of G protein signaling 9-binding protein RGS9BP 388531 ENSG00000186326 Bradyopsia, 608415 (3) Rgs9bp (MGI:2384418) -chr19 32830510 32870956 19q13.1 19q13.11 604144 SLC7A9, CSNU3 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 SLC7A9 11136 ENSG00000021488 Cystinuria, 220100 (3), Autosomal dominant, Autosomal recessive Slc7a9 (MGI:1353656) -chr19 32875924 32972023 19q13.11 19q13.11 615470 CEP89, CCDC123, CEP123, FLJ14640 Centrosomal protein, 89kD CEP89 84902 ENSG00000121289 Cep89 (MGI:1919390) -chr19 32972211 32978228 19q13.11 19q13.11 610884 FAAP24, C19orf40 FA core complex-associated protein 24 FAAP24 91442 ENSG00000131944 Faap24 (MGI:2142208) -chr19 32978591 33064887 19q13.11 19q13.11 617932 RHPN2 Rhophilin 2 RHPN2 85415 ENSG00000131941 Rhpn2 (MGI:1289234) -chr19 33194329 33208863 19q12-q13.2 19q13.11 603159 LRP3 Low density lipoprotein receptor related protein 3 LRP3 4037 ENSG00000130881 Lrp3 (MGI:3584516) -chr19 33208663 33225849 19q13.11 19q13.11 607959 SLC7A10, ASC1 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 10 SLC7A10 56301 ENSG00000130876 Slc7a10 (MGI:1858261) -chr19 33299933 33302563 19q13.1 19q13.11 116897 CEBPA, CEBP CCAAT/enhancer-binding protein (C/EBP), alpha CEBPA 1050 ENSG00000245848 germline mutation identified in 1 AML family Leukemia, acute myeloid, somatic, 601626 (3); ?Leukemia, acute myeloid, 601626 (3), Somatic mutation, Autosomal dominant Cebpa (MGI:99480) -chr19 33373708 33382685 19q13.11 19q13.11 138972 CEBPG, GPE1BP CCAAT/enhancer-binding protein, gamma CEBPG 1054 ENSG00000153879 Cebpg (MGI:104982) -chr19 33386949 33521790 19cen-q13.11 19q13.11 613230 PEPD Peptidase D (prolidase) PEPD 5184 ENSG00000124299 closely linked to APOC2 Prolidase deficiency, 170100 (3), Autosomal recessive Pepd (MGI:97542) -chr19 33621952 33773508 19q13.1 19q13.11 610190 CHST8, GALNAC4ST1, PSS3 Carbohydrate sulfotransferase 8 CHST8 64377 ENSG00000124302 mutation has been identified in 1 PSS3 family ?Peeling skin syndrome 3, 616265 (3), Autosomal recessive Chst8 (MGI:1916197) -chr19 33795539 33815760 19q13.11 19q13.11 615240 KCTD15 Potassium channel tetramerization domain-containing protein 15 KCTD15 79047 ENSG00000153885 Kctd15 (MGI:2385276) -chr19 34172498 34229287 19q13.11 19q13.11 610677 LSM14A, RAP55 LSM14A protein LSM14A 26065 ENSG00000257103 Lsm14a (MGI:1914320) -chr19 34254553 34355565 19q13.11 19q13.11 619335 GARRE1, KIAA0355 Granule-associated RAC and RHOG effector 1 GARRE1 9710 ENSG00000166398 Garre1 (MGI:1924311) -chr19 34353329 34402412 19q13.1 19q13.11 172400 GPI Glucose phosphate isomerase; neuroleukin GPI 2821 ENSG00000105220 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3), Autosomal recessive Gpi1 (MGI:95797) -chr19 34404398 34426167 19q13.11 19q13.11 615661 PDCD2L, MGC13096 Programmed cell death 2-like protein PDCD2L 84306 ENSG00000126249 Pdcd2l (MGI:1915329) -chr19 34428175 34471250 19q12 19q13.11 613295 UBA2, SAE2 Ubiquitin-like modifier-activating enzyme 2 UBA2 10054 ENSG00000126261 Uba2 (MGI:1858313) -chr19 34481757 34512303 19q13.12 19q13.11 614790 WTIP WT1-interacting protein WTIP 126374 ENSG00000142279 Wtip (MGI:2141920) -chr19 34585528 34677158 19q13.11 19q13.11 615063 SCGB2B2 Secretoglobin, family 2B, member 2 SCGB2B2 284402 ENSG00000205209 -chr19 34734193 34746482 19q13.2 19q13.11 606741 ZNF181 Zinc finger protein-181 ZNF181 339318 ENSG00000197841 -chr19 35030469 35040448 19q13.1 19q13.11 600235 SCN1B, GEFSP1, BRGDA5, ATFB13, DEE52 Sodium voltage-gated channel, beta subunit 1 SCN1B 6324 ENSG00000105711 Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3), Autosomal dominant; Developmental and epileptic encephalopathy 52, 617350 (3), Autosomal recessive; Cardiac conduction defect, nonspecific, 612838 (3); Atrial fibrillation, familial, 13, 615377 (3), Autosomal dominant; Brugada syndrome 5, 612838 (3) Scn1b (MGI:98247) -chr19 35040505 35066572 19q11-q13.2 19q13.11 142440 HPN Hepsin HPN 3249 ENSG00000105707 Hpn (MGI:1196620) -chr19 35115822 35124323 19q13.12 19q13.12 604996 FXYD3, PLML, MAT8 FXYD domain-containing ion transport regulator 3 FXYD3 5349 ENSG00000089356 Fxyd3 (MGI:107497) -chr19 35124512 35135058 19q13.11 19q13.12 608303 LGI4, AMC1 Leucine-rich gene, glioma-inactivated, 4 LGI4 163175 ENSG00000153902 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, 617468 (3), Autosomal recessive Lgi4 (MGI:2180197) -chr19 35137205 35143108 19q13.1 19q13.12 602359 FXYD1, PLM FXYD domain-containing ion transport regulator 1 (phospholemman) FXYD1 5348 ENSG00000266964 Fxyd1 (MGI:1889273) -chr19 35143254 35154301 19q13.12 19q13.12 606684 FXYD7 FXYD domain-containing ion transport regulator 7 FXYD7 53822 ENSG00000221946 Fxyd7 (MGI:1889006) -chr19 35154734 35169880 19q13.12 19q13.12 606669 FXYD5 FXYD domain-containing ion transport regulator 5 FXYD5 53827 ENSG00000089327 Fxyd5 (MGI:1201785) -chr19 35248735 35267963 19q13.12 19q13.12 616582 LSR Lipolysis-stimulated lipoprotein receptor LSR 51599 ENSG00000105699 Lsr (MGI:1927471) -chr19 35268961 35279820 19q13.1 19q13.12 600390 USF2, FIP Upstream transcription factor 2, c-fos interacting USF2 7392 ENSG00000105698 Usf2 (MGI:99961) -chr19 35282527 35285142 19q13 19q13.12 606464 HAMP, LEAP1, HEPC, HFE2B Hepcidin antimicrobial peptide HAMP 57817 ENSG00000105697 digenic form with HAMP and HFE mutations Hemochromatosis, type 2B, 613313 (3), Autosomal recessive Hamp2,Hamp (MGI:2153530,MGI:1933533) -chr19 35292160 35313806 19q13.1 19q13.12 159460 MAG, GMA, SPG75 Myelin-associated glycoprotein MAG 4099 ENSG00000105695 Spastic paraplegia 75, autosomal recessive, 616680 (3), Autosomal recessive Mag (MGI:96912) -chr19 35329186 35347360 19q13.1 19q13.12 107266 CD22 CD22 antigen CD22 933 ENSG00000012124 Cd22 (MGI:88322) -chr19 35351541 35352463 19q13.1 19q13.12 603820 FFAR1, GPR40 Free fatty acid receptor 1 FFAR1 2864 ENSG00000126266 Ffar1 (MGI:2684079) -chr19 35358105 35360490 19q13.1 19q13.12 603821 FFAR3, GPR41 Free fatty acid receptor 3 FFAR3 2865 ENSG00000185897 Ffar3 (MGI:2685324) -chr19 35371067 35372961 19q13.1 19q13.12 603822 GPR42 G protein-coupled receptor-42 GPR42 2866 ENSG00000126251 Ffar3 (MGI:2685324) -chr19 35448256 35451766 19q13.1 19q13.12 603823 FFAR2, GPR43 Free fatty acid receptor 2 FFAR2 2867 ENSG00000126262 Ffar2 (MGI:2441731) -chr19 35487323 35490463 19q13.1 19q13.12 617212 KDAP Keratinocyte differentiation-associated protein KRTDAP 388533 ENSG00000188508 Krtdap (MGI:1928282) -chr19 35497219 35513677 19q13.1 19q13.12 617211 DMKN Dermokine DMKN 93099 ENSG00000161249 Dmkn (MGI:1920962) -chr19 35523366 35528370 19q13.1 19q13.12 609969 SBSN Suprabasin SBSN 374897 ENSG00000189001 Sbsn (MGI:2446326) -chr19 35533455 35545318 19q13.1 19q13.12 609169 GAPDHS, GAPD2 Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic GAPDHS 26330 ENSG00000105679 9.5 Mbp prox. to APOE Gapdhs (MGI:95653) -chr19 35545625 35547525 19q13.12 19q13.12 613585 TMEM147 Transmembrane protein 147 TMEM147 10430 ENSG00000105677 Tmem147 (MGI:1915011) -chr19 35550030 35563657 19q13.1 19q13.12 137216 ATP4A, ATP6A ATPase, H+, K+ transporting, alpha ATP4A 495 ENSG00000105675 Atp4a (MGI:88113) -chr19 35612734 35625354 19q13.12 19q13.12 613432 HAUS5, DGT5, KIAA0841 HAUS augmin-like complex, subunit 5 HAUS5 23354 ENSG00000249115 Haus5 (MGI:1919159) -chr19 35629035 35637684 19q13.12 19q13.12 613232 RBM42 RNA-binding motif protein 42 RBM42 79171 ENSG00000126254 Rbm42 (MGI:1915285) -chr19 35641174 35644870 19q13.1 19q13.12 609358 ETV2, ETSRP71 ETS variant transcription factor 2 ETV2 2116 ENSG00000105672 Etv2 (MGI:99253) -chr19 35648322 35658781 19q13.1 19q13.12 124089 COX6B1, MC4DN7 Cytochrome c oxidase, subunit VIb polypeptide 1 (ubiquitous) COX6B1 1340 ENSG00000126267 Mitochondrial complex IV deficiency, nuclear type 7, 619051 (3), Autosomal recessive Cox6b1 (MGI:107460) -chr19 35666516 35678480 19q13.1 19q13.12 611557 UPK1A, UPIA Uroplakin 1A UPK1A 11045 ENSG00000105668 Upk1a (MGI:98911) -chr19 35704480 35717047 19q13.1 19q13.12 605859 ZBTB32, FAXF, TZFP, ROG Zinc finger- and BTB domain-containing protein 32 ZBTB32 27033 ENSG00000011590 Zbtb32 (MGI:1891838) -chr19 35717817 35738877 19q13.1 19q13.12 606834 KMT2B, MLL4, KIAA0304, DYT28 Lysine-specific methyltransferase 2B KMT2B 9757 ENSG00000272333 Dystonia 28, childhood-onset, 617284 (3), Autosomal dominant Kmt2b (MGI:109565) -chr19 35738800 35742451 19q13.12 19q13.12 614143 IGFLR1, TMEM149 IGF-like family receptor 1 IGFLR1 79713 ENSG00000126246 Igflr1 (MGI:3655979) -chr19 35742463 35745417 19q13.2 19q13.12 601080 U2AF1L4, U2AF1RS3 U2 small nuclear RNA auxillary factor 1-like 4 U2AF1L4 199746 ENSG00000161265 U2af1l4 (MGI:2678374) -chr19 35745650 35747518 19q13.1 19q13.12 607632 PSENEN, PEN2, ACNINV2 Presenilin enhancer, gamma-secretase subunit PSENEN 55851 ENSG00000205155 Acne inversa, familial, 2, with or without Dowling-Degos disease, 613736 (3), Autosomal dominant Psenen (MGI:1913590) -chr19 35754565 35757028 19q13.13 19q13.12 610695 HSPB6, HSP20 Heat-shock 27kD protein 6 HSPB6 126393 ENSG00000004776 Hspb6 (MGI:2685325) -chr19 35775514 35788821 19q13.12 19q13.12 614902 ARHGAP33, TCGAP Rho GTPase-activating protein 33 ARHGAP33 115703 ENSG00000004777 Arhgap33 (MGI:2673998) -chr19 35799987 35812844 19q13.12 19q13.12 616377 PRODH2, HYPDH Proline dehydrogenase (oxidase) 2 PRODH2 58510 ENSG00000250799 Prodh2 (MGI:1929093) -chr19 35825371 35852503 19q13.1 19q13.12 602716 NPHS1, NPHN Nephrin NPHS1 4868 ENSG00000161270 Nephrotic syndrome, type 1, 256300 (3), Autosomal recessive Nphs1 (MGI:1859637) -chr19 35851634 35867145 19q13.1 19q13.12 607762 KIRREL2, NEPH3, NLG1, FILTRIN Kirre-like nephrin family adhesion molecule 2 KIRREL2 84063 ENSG00000126259 Kirrel2 (MGI:2442334) -chr19 35868569 35879794 19q13.2 19q13.12 104775 APLP1, APLP Amyloid beta (A4) precursor-like protein-1 APLP1 333 ENSG00000105290 Aplp1 (MGI:88046) -chr19 35887629 35902302 19q13.2 19q13.12 618887 NFKBID, IKBNS Nuclear factor kappa-B inhibitor, delta NFKBID 84807 ENSG00000167604 Nfkbid (MGI:3041243) -chr19 35902364 35904376 19q13.1 19q13.12 604089 DAP10 DNAX-activation protein 10 HCST 10870 ENSG00000126264 Hcst (MGI:1344360) -chr19 35904402 35908294 19q13.1 19q13.12 604142 TYROBP, DAP12, PLOSL1 TYRO protein tyrosine kinase-binding protein TYROBP 7305 ENSG00000011600 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 (3), Autosomal recessive Tyrobp (MGI:1277211) -chr19 35936373 35946623 19q13.2 19q13.12 612809 LRFN3, SALM4 Leucine-rich repeat and fibronectin type III domain-containing protein 3 LRFN3 79414 ENSG00000126243 Lrfn3 (MGI:2442512) -chr19 35995187 35996311 19q12-q13.2 19q13.12 612848 SDHAF1, MC2DN2 Succinate dehydrogenase complex assembly factor 1 SDHAF1 644096 ENSG00000205138 Mitochondrial complex II deficiency, nuclear type 2, 619166 (3), Autosomal recessive Sdhaf1 (MGI:1915582) -chr19 36003306 36008812 19q13.12 19q13.12 615535 SYNE4, NESP4, C19orf46, DFNB76 Spectrin repeat-containing nuclear envelope protein 4 SYNE4 163183 ENSG00000181392 Deafness, autosomal recessive 76, 615540 (3), Autosomal recessive Syne4 (MGI:2141950) -chr19 36009119 36014238 19q13.12 19q13.12 613304 ALKBH6, ABH6 AlkB homolog 6 ALKBH6 84964 ENSG00000239382 Alkbh6 (MGI:2142037) -chr19 36014659 36032872 19q13 19q13.12 607382 CLIP3, CLIPR59 CAP-GLY domain-containing linker protein 3, 607382 (3) CLIP3 25999 ENSG00000105270 Clip3 (MGI:1923936) -chr19 36034983 36054761 19q13.12 19q13.12 612536 THAP8 THAP domain-containing protein 8 THAP8 199745 ENSG00000161277 -chr19 36054880 36111144 19q13.12 19q13.12 613583 WDR62, C19orf14, MCPH2 WD repeat-containing protein 62 WDR62 284403 ENSG00000075702 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3), Autosomal recessive Wdr62 (MGI:1923696) -chr19 36111142 36113710 19q13.1 19q13.12 616442 OVOL3 ovo-like 3 OVOL3 728361 ENSG00000105261 Ovol3 (MGI:2388075) -chr19 36113708 36114874 19q12 19q13.12 180662 POLR2I Polymerase (RNA) II (DNA directed) polypeptide I, 14.5kD POLR2I 5438 ENSG00000105258 Polr2i (MGI:1917170) -chr19 36114966 36125940 19q13.11-q13.12 19q13.12 601303 CKAP1 Cytoskeleton-associated protein 1 TBCB 1155 ENSG00000105254 Tbcb (MGI:1913661) -chr19 36140065 36150352 19q13.12 19q13.12 114170 CAPNS1, CAPN4 Calpain, small polypeptide CAPNS1 826 ENSG00000126247 Capns1 (MGI:88266) -chr19 36150921 36152446 19q13.12 19q13.12 123995 COX7A1, COX7AM Cytochrome c oxidase, subunit VIIa, polypeptide-1, muscle COX7A1 1346 ENSG00000161281 Cox7a1 (MGI:1316714) -chr19 36182059 36245927 19q13.12 19q13.12 614275 ZNF565 Zinc finger protein 565 ZNF565 147929 ENSG00000196357 -chr19 36214750 36238767 19q13.1 19q13.12 601505 ZNF146, OZF Zinc finger protein-146 ZNF146 7705 ENSG00000167635 Zfp146 (MGI:1347092) -chr19 36510686 36528270 19q13.12 19q13.12 613749 ZNF260, PEX1 Zinc finger protein 260 ZNF260 339324 ENSG00000254004 Zfp260 (MGI:1347071) -chr19 36605312 36634113 19q13.13 19q13.12 609516 ZNF382, KS1 Zinc finger protein 382 ZNF382 84911 ENSG00000161298 Zfp382 (MGI:3588204) -chr19 36636617 36666836 19q13.4 19q13.12 608640 ZNF461, GIOT1 Zinc finger protein-461 ZNF461 92283 ENSG00000197808 -chr19 36916331 36997931 19q13.12 19q13.12 617566 ZNF568, ZFP568 Zinc finger protein 568 ZNF568 374900 ENSG00000198453 Zfp568 (MGI:2142347) -chr19 37007814 37130367 19q13.12 19q13.12 617216 ZNF420, APAK Zinc finger protein 420 ZNF420 147923 ENSG00000197050 Zfp420 (MGI:2444666) -chr19 37217242 37248739 19q13.12 19q13.12 619499 ZNF383 Zinc finger protein 383 ZNF383 163087 ENSG00000188283 -chr19 37312836 37364454 19q13.12 19q13.12 165250 ZNF875, HKR1 Zinc finger protein 875 ZNF875 284459 ENSG00000181666 -chr19 37411145 37469262 19q13.12 19q13.12 613904 ZNF569 Zinc finger protein 569 ZNF569 148266 ENSG00000196437 Zfp74 (MGI:107784) -chr19 37551373 37614178 19q13.13 19q13.12 613903 ZNF540 Zinc finger protein 540 ZNF540 163255 ENSG00000171817 -chr19 37631005 37656260 19q13.12 19q13.12 617317 ZFP30, ZNF745, KIAA0961 Zinc finger protein 30, mouse, homolog of ZFP30 22835 ENSG00000120784 Zfp30 (MGI:99178) -chr19 37800000 58617616 19q13.1-qter 129150 E11S Echo 11 sensitivity 1878 -chr19 37906821 38208368 19q13.1 19q13.1-q13.2 616655 SIPA1L3, SPAL3, SPAR3, KIAA0545, CTRCT45 SIPA1-like protein 3 SIPA1L3 23094 ENSG00000105738 mutation identified in 1 CTRCT45 family ?Cataract 45, 616851 (3), Autosomal recessive Sipa1l3 (MGI:1921456) -chr19 38200000 58617616 19q13.2-q13.4 603855 CFM1 Cystic fibrosis modifier-1 10167 {Meconium ileus in cystic fibrosis, susceptibility to}, 603855 (2) -chr19 38200000 50900000 19q13.2-q13.3 611097 MRT11 Mental retardation, autosomal recessive, 11 100101426 between rs2109075 and rs8101149 Mental retardation, autosomal recessive, 11, 611097 (2), Autosomal recessive -chr19 38200000 42900000 19q13.2 227050 TEC Transient erythroblastopenia of childhood 100124696 Transient erythroblastopenia of childhood, 227050 (2), Autosomal recessive -chr19 38200000 50900000 19q13.2-q13.3 165060 TRU-TCA1-1, TRNAU1, TRSP tRNA selenocysteine (anticodon TCA) 1-1 TRU-TCA1-1 7234 pseudogene on 22 -chr19 38211005 38229694 19q13.13-q13.2 19q13.2 601670 DPF1, NEUD4 D4, zinc, and double PHD fingers family, member 1 DPF1 8193 ENSG00000011332 Dpf1 (MGI:1352748) -chr19 38251236 38256373 19q13.1 19q13.2 608153 PPP1R14A, CPI17 Protein phosphatase 1, regulatory subunit 14A PPP1R14A 94274 ENSG00000167641 Ppp1r14a (MGI:1931139) -chr19 38264572 38292614 19q13.1 19q13.2 605124 SPINT2, HAI2, DIAR3 Serine protease inhibitor, Kunitz-type, 2 SPINT2 10653 ENSG00000167642 Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3), Autosomal recessive Spint2 (MGI:1338031) -chr19 38303557 38315975 19p13.3 19q13.2 619109 YIF1B, KABAMAS YIP1-interacting factor homolog B, membrane-trafficking protein YIF1B 90522 ENSG00000167645 Kaya-Barakat-Masson syndrome, 619125 (3), Autosomal recessive Yif1b (MGI:1924504) -chr19 38319844 38332075 19q13.1 19q13.2 603939 KCNK6, TWIK2, TOSS Potassium channel, subfamily K, member 6 KCNK6 9424 ENSG00000099337 Kcnk6 (MGI:1891291) -chr19 38335829 38370942 19q13.1 19q13.2 613452 CATSPERG Cation channel, sperm-associated, gamma CATSPERG 57828 ENSG00000099338 Catsperg2,Catsperg1 (MGI:2443617,MGI:1923968) -chr19 38374570 38383823 19q13.2 19q13.2 617844 PSMD8 Proteasome 26S subunit, non-ATPase, 8 PSMD8 5714 ENSG00000099341 Psmd8 (MGI:1888669) -chr19 38384266 38388602 19q13.2 19q13.2 609966 GGN Gametogenetin, mouse, homolog of GGN 199720 ENSG00000179168 Ggn (MGI:2181461) -chr19 38388696 38399586 19q13.13 19q13.2 609293 SPRED3 Sprouty-related EVH1 domain-containing protein 3 SPRED3 399473 ENSG00000188766 Spred3 (MGI:2142186) -chr19 38409054 38426218 19q13.1 19q13.2 607320 RASGRP4 Ras guanyl nucleotide-releasing protein 4 RASGRP4 115727 ENSG00000171777 Rasgrp4 (MGI:2386851) -chr19 38433690 38587563 19q13.1 19q13.2 180901 RYR1, MHS, CCO Ryanodine receptor-1, skeletal RYR1 6261 ENSG00000196218 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3), Autosomal dominant, Autosomal recessive; Central core disease, 117000 (3), Autosomal dominant, Autosomal recessive; King-Denborough syndrome, 145600 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 1}, 145600 (3), Autosomal dominant; Minicore myopathy with external ophthalmoplegia, 255320 (3), Autosomal recessive Ryr1 (MGI:99659) -chr19 38587640 38617952 19q13.1-q13.4 19q13.2 601983 MAP4K1, HPK1 Mitogen-activated protein kinase kinase kinase kinase 1 MAP4K1 11184 ENSG00000104814 Map4k1 (MGI:1346882) -chr19 38619187 38636953 19q13.2 19q13.2 609596 EIF3K, PLAC24, EIF3S12 Eukaryotic translation initiation factor 3, subunit K EIF3K 27335 ENSG00000178982 Eif3k (MGI:1921080) -chr19 38647648 38731588 19q13 19q13.2 604638 ACTN4, FSGS1, FSGS Actinin, alpha-4 ACTN4 81 ENSG00000130402 Glomerulosclerosis, focal segmental, 1, 603278 (3), Autosomal dominant Actn4 (MGI:1890773) -chr19 38730047 38744473 19q13 19q13.2 608839 CAPN12 Calpain 12 CAPN12 147968 ENSG00000182472 Capn12 (MGI:1891369) -chr19 38770967 38773516 19q13.2 19q13.2 600615 LGALS7 Lectin, galactoside-binding, soluble, 7 (galectin 7) LGALS7 3963 ENSG00000205076 Lgals7 (MGI:1316742) -chr19 38789199 38791753 19q13.2 19q13.2 617139 LGALS7B Lectin, galactoside-binding, soluble, 7B LGALS7B 653499 ENSG00000178934 Lgals7 (MGI:1316742) -chr19 38801670 38813613 19q13.2 19q13.2 602518 LGALS4 Lectin, galactoside-binding, soluble, 4 LGALS4 3960 ENSG00000171747 Lgals6,Lgals4 (MGI:107535,MGI:107536) -chr19 38815421 38831793 19q13 19q13.2 600696 ECH1 Enoyl Coenzyme A hydratase 1, peroxisomal ECH1 1891 ENSG00000104823 Ech1 (MGI:1858208) -chr19 38836369 38852346 19q13.2 19q13.2 603083 HNRNPL, HNRPL Heterogeneous nuclear riboprotein 1 HNRNPL 3191 ENSG00000104824 Hnrnpl (MGI:104816) -chr19 38878554 38899732 19q 19q13.2 604480 SIRT2, SIR2L, SIR2L2 Sirtuin, S. cerevisiae, homolog 2 SIRT2 22933 ENSG00000068903 Sirt2 (MGI:1927664) -chr19 38899502 38908893 19q13.1 19q13.2 604495 NFKBIB, IKBB, TRIP9 Nuclear factor of kappa-B inhibitor, beta NFKBIB 4793 ENSG00000104825 Nfkbib (MGI:104752) -chr19 38908170 38914370 19q13.2 19q13.2 617634 CCER2 Coiled-coil glutamate-rich protein 2 CCER2 643669 ENSG00000262484 Ccer2 (MGI:3645242) -chr19 38915265 38930762 19q13.2 19q13.2 612804 SARS2 Seryl-tRNA synthetase 2 SARS2 54938 ENSG00000104835 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3), Autosomal recessive Sars2 (MGI:1919234) -chr19 38930943 38933167 19q13.1 19q13.2 603021 MRPS12, RPSM12 Ribosomal protein, mitochondrial, S12 MRPS12 6183 ENSG00000128626 Mrps12 (MGI:1346333) -chr19 38941400 38975741 19q13.2 19q13.2 609094 FBXO17, FBX17, FBX26, FBG4 F-box only protein 17 FBXO17 115290 ENSG00000269190 Fbxo17 (MGI:1354707) -chr19 39007063 39032554 19q13.2 19q13.2 609099 FBXO27, FBX27, FBG5 F-box only protein 27 FBXO27 126433 ENSG00000161243 Fbxo27 (MGI:2685007) -chr19 39083010 39112073 19q13.2 19q13.2 610490 PAPL, FLJ16165 Purple acid phosphatase, long form ACP7 390928 ENSG00000183760 Acp7 (MGI:2142121) -chr19 39125785 39182815 19q13.2 19q13.2 605451 PAK4 p21-activated kinase 4 PAK4 10298 ENSG00000130669 Pak4 (MGI:1917834) -chr19 39196963 39201883 19q13.2 19q13.2 615901 NCCRP1, FBXO50 Nonspecific cytotoxic cell receptor protein 1, zebrafish, homolog of NCCRP1 342897 ENSG00000188505 Nccrp1 (MGI:2685009) -chr19 39243454 39245249 19q13.13 19q13.2 607402 IFNL3, IL28B Interferon, lambda 3 IFNL3 282617 ENSG00000197110 {Hepatitis C virus infection, response to therapy of}, 609532 (3) Ifnl2,Ifnl3 (MGI:3647279,MGI:2450574) -chr19 39246313 39248855 19q13.13 19q13.2 615090 IFNL4 Interferon, lambda-4 IFNL4 101180976 ENSG00000272395 -chr19 39268395 39270187 19q13.13 19q13.2 607401 IFNL2, IL28A Interferon, lambda 2 IFNL2 282616 ENSG00000183709 Ifnl2,Ifnl3 (MGI:3647279,MGI:2450574) -chr19 39296406 39298672 19q13.13 19q13.2 607403 IFNL1, IL29 Interferon, lambda 1 IFNL1 282618 ENSG00000182393 Ifnl2 (MGI:3647279) -chr19 39306565 39320862 19q13.2 19q13.2 612807 LRFN1, SALM2, KIAA1484 Leucine-rich repeat and fibronectin type III domain-containing protein 1 LRFN1 57622 ENSG00000128011 Lrfn1 (MGI:2136810) -chr19 39328358 39336042 19q13.2 19q13.2 604104 GMFG Glia maturation factor, gamma GMFG 9535 ENSG00000130755 Gmfg (MGI:1927135) -chr19 39342420 39390747 19q13.2 19q13.2 619231 SAMD4B Sterile alpha motif domain-containing protein 4B SAMD4B 55095 ENSG00000179134 Samd4b (MGI:2448542) -chr19 39385628 39391105 19q13.2 19q13.2 610506 PAF1, PD2 PAF1 RNA polymerase II-associated factor, S. cerevisiae, homolog of PAF1 54623 ENSG00000006712 Paf1 (MGI:1923988) -chr19 39391377 39400640 19q13.2 19q13.2 612914 MED29, IXL Mediator complex subunit 29 MED29 55588 ENSG00000063322 Med29 (MGI:1914474) -chr19 39406846 39409406 19q13.1 19q13.2 190700 ZFP36, TTP Zfp36, mouse, homolog of ZFP36 7538 ENSG00000128016 Zfp36 (MGI:99180) -chr19 39412581 39428414 19q13.1 19q13.2 611893 PLEKHG2, CLG, LDAMD Pleckstrin homology domain- and RhoGEF domain-containing protein G2 PLEKHG2 64857 ENSG00000090924 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3), Autosomal recessive Plekhg2 (MGI:2141874) -chr19 39433136 39435948 19q 19q13.2 603675 RPS16 Ribosomal protein S16 RPS16 6217 ENSG00000105193 Rps16 (MGI:98118) -chr19 39445581 39476669 19q13.1-q13.2 19q13.2 602102 SUPT5H, SPT5 SPT5 homolog, DSIF elongation factor subunit SUPT5H 6829 ENSG00000196235 Supt5 (MGI:1202400) -chr19 39480837 39493778 19q13.2 19q13.2 607381 TIMM50, TIM50, MGCA9 Translocase of inner mitochondrial membrane 50 TIMM50 92609 ENSG00000105197 3-methylglutaconic aciduria, type IX, 617698 (3), Autosomal recessive Timm50 (MGI:1913775) -chr19 39498946 39508468 19q13 19q13.2 602768 DLL3, SCDO1 Delta-like canonical Notch ligand 3 DLL3 10683 ENSG00000090932 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3), Autosomal recessive Dll3 (MGI:1096877) -chr19 39515112 39520685 19q13.13 19q13.2 607919 SELENOV, SELV Selenoprotein V SELENOV 348303 ENSG00000186838 -chr19 39530986 39532851 19q13 19q13.2 617355 EID2B EP300-interacting inhibitor of differentiation 2B EID2B 126272 ENSG00000176401 Eid2b (MGI:1924095) -chr19 39538706 39540160 19q13.2 19q13.2 609773 EID2, CRI2 EP300-interacting inhibitor of differentiation 2 EID2 163126 ENSG00000176396 Eid2 (MGI:2681174) -chr19 39602410 39607473 19q13.1 19q13.2 608717 LGALS13, GAL13, PP13 Lectin, galactoside-binding, soluble, 13 LGALS13 29124 ENSG00000105198 -chr19 39704480 39709443 19q13.2 19q13.2 607260 PPL13 Placental protein 13-like protein LGALS14 56891 ENSG00000006659 -chr19 39731254 39738028 19q13.1 19q13.2 153310 CLC Charcot-Leyden crystal protein CLC 1178 ENSG00000105205 -chr19 39776452 39786290 19p13.2 19q13.2 618701 LEUTX Leucine twenty homeobox LEUTX 342900 ENSG00000213921 -chr19 39825349 39834161 19q12-q13.11 19q13.2 604556 DYRK1B, MIRK, AOMS3 Dual-specificity tyrosine phosphorylation-regulated kinase 1B DYRK1B 9149 ENSG00000105204 Abdominal obesity-metabolic syndrome 3, 615812 (3), Autosomal dominant Dyrk1b (MGI:1330302) -chr19 39834457 39846394 19q13.2 19q13.2 134795 FBL Fibrillarin FBL 2091 ENSG00000105202 Fbl (MGI:95486) -chr19 39863322 39934625 19q13.2 19q13.2 617553 FCGBP Fc fragment of IgG-binding protein FCGBP 8857 ENSG00000275395 Fcgbp,9530053A07Rik (MGI:2444336,MGI:2442118) -chr19 39971149 39981763 19q13.11-q13.13 19q13.2 602707 PSMC4, TBP7, S6 Proteasome 26S subunit, ATPase, 4 PSMC4 5704 ENSG00000013275 Psmc4 (MGI:1346093) -chr19 40191425 40215574 19q13.1-q13.2 19q13.2 600137 MAP3K10, MLK2, MST Mitogen-activated protein kinase kinase kinase 10 MAP3K10 4294 ENSG00000130758 Map3k10 (MGI:1346879) -chr19 40230316 40285530 19q13.1-q13.2 19q13.2 164731 AKT2, HIHGHH AKT serine/threonine kinase 2 AKT2 208 ENSG00000105221 Diabetes mellitus, type II, 125853 (3), Autosomal dominant; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3), Autosomal dominant Akt2 (MGI:104874) -chr19 40348394 40378484 19q13.2 19q13.2 615698 PLD3, HUK4, SCA46 Phospholipase D family, member 3 PLD3 23646 ENSG00000105223 mutation identified in 1 SCA46 family ?Spinocerebellar ataxia 46, 617770 (3), Autosomal dominant Pld3 (MGI:1333782) -chr19 40379270 40390864 19q13.2 19q13.2 611712 HIPK4 Homeodomain-interacting protein kinase 4 HIPK4 147746 ENSG00000160396 Hipk4 (MGI:2685008) -chr19 40393761 40414717 19q13.1-q13.2 19q13.2 605725 PRX, CMT4F Periaxin PRX 57716 ENSG00000105227 Charcot-Marie-Tooth disease, type 4F, 614895 (3), Autosomal recessive; Dejerine-Sottas disease, 145900 (3), Autosomal dominant, Autosomal recessive Prx (MGI:108176) -chr19 40421588 40425991 19q13.2 19q13.2 617850 SERTAD1, TRIPBR1 SERTA domain-containing protein 1 SERTAD1 29950 ENSG00000197019 Sertad1 (MGI:1913438) -chr19 40440842 40444334 19q13.1 19q13.2 612125 SERTAD3, RBT1 SERTA domain-containing 3 SERTAD3 29946 ENSG00000167565 Sertad3 (MGI:2180697) -chr19 40447767 40465744 19q13.13-q13.2 19q13.2 600941 BLVRB, BVRB, FLR Biliverdin reductase B BLVRB 645 ENSG00000090013 Blvrb (MGI:2385271) -chr19 40467000 40576463 19q13.13 19q13.2 606214 SPTBN4, QV, NEDHND, CMND Spectrin, beta, nonerythrocytic, 4 (quivering, mouse, homolog of) SPTBN4 57731 ENSG00000160460 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3), Autosomal recessive Sptbn4 (MGI:1890574) -chr19 40576863 40591398 19q13.2 19q13.2 617322 SHKBP1, SB1 SH3KBP1-binding protein 1 SHKBP1 92799 ENSG00000160410 Shkbp1 (MGI:2385803) -chr19 40593165 40629819 19q13.1-q13.2 19q13.2 604710 LTBP4, LTBP4S, LTBP4L, ARCL1C Latent transforming growth factor-beta-binding protein 4 LTBP4 8425 ENSG00000090006 Cutis laxa, autosomal recessive, type IC, 613177 (3), Autosomal recessive Ltbp4 (MGI:1321395) -chr19 40665904 40690650 19q13.13-q13.2 19q13.2 604018 NUMBL, NUMBR, NBL Numb, Drosophila, homolog-like NUMBL 9253 ENSG00000105245 Numbl (MGI:894702) -chr19 40691529 40716885 19q13.1 19q13.2 615567 COQ8B, ADCK4, NPHS9 Coenzyme Q8B COQ8B 79934 ENSG00000123815 Nephrotic syndrome, type 9, 615573 (3), Autosomal recessive Coq8b (MGI:1924139) -chr19 40717111 40740859 19q13.2 19q13.2 606476 ITPKC Inositol 1,4,5-trisphosphate 3-kinase C ITPKC 80271 ENSG00000086544 Itpkc (MGI:2442554) -chr19 40751202 40765388 19q13.1 19q13.2 182285 SNRPA Small nuclear ribonucleoprotein polypeptide A SNRPA 6626 ENSG00000077312 Snrpa (MGI:1855690) -chr19 40775159 40777489 19q13.32-q13.33 19q13.2 601340 MIA MIA SH3 domain-containing protein MIA 8190 ENSG00000261857 Mia (MGI:109615) -chr19 40778246 40796941 19q13.2-q13.3 19q13.2 612945 RAB4B Ras-associated protein RAB4B RAB4B 53916 ENSG00000167578 Rab4b (MGI:105071) -chr19 40799190 40808433 19q13.2 19q13.2 606424 EGLN2, PHD1, HIFPH1 egl-9 family hypoxia inducible factor 2 EGLN2 112398 ENSG00000269858 Egln2 (MGI:1932287) -chr19 40843540 40850446 19q13.2 19q13.2 122720 CYP2A6, CYP2A3, CYP2A, P450C2A Cytochrome P450, subfamily IIA, phenobarbital-inducible, polypeptide 6 CYP2A6 1548 ENSG00000255974 {Lung cancer, resistance to}, 211980 (3), Somatic mutation, Autosomal dominant; Coumarin resistance, 122700 (3), Autosomal dominant; {Nicotine addiction, protection from}, 188890 (3) Cyp2a12,Cyp2a22,Cyp2a4,Cyp2a5 (MGI:88597,MGI:3648316,MGI:105055,MGI:88596) -chr19 40875438 40885950 19q13.2 19q13.2 608054 CYP2A7 Cytochrome P450, subfamily IIA, polypeptide 7 CYP2A7 1549 ENSG00000198077 Cyp2a12,Cyp2a22,Cyp2a4 (MGI:3648316,MGI:105055,MGI:88596) -chr19 40890825 40900507 19q13.2 19q13.2 601133 CYP2G1P, CYP2G1 Cytochrome P450, family 2, subfamily G, member 1, pseudogene CYP2G1P 22952 ENSG00000130612 Cyp2g1 (MGI:109612) -chr19 40991281 41018397 19q13.2 19q13.2 123930 CYP2B6, CYP2B, EFVM Cytochrome P450, family 2, subfamily B, polypeptide 6 CYP2B6 1555 ENSG00000197408 same NotI fragment as CYP2A {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3); Efavirenz, poor metabolism of, 614546 (3) Cyp2b13,Cyp2b23,Cyp2b10,Cyp2b19,Cyp2b9 (MGI:3646735,MGI:88598,MGI:88599,MGI:88600,MGI:107303) -chr19 41088450 41096194 19q13.2 19q13.2 608055 CYP2A13 Cytochrome P450, subfamily IIA, polypeptide 13 CYP2A13 1553 ENSG00000197838 Cyp2a12,Cyp2a22,Cyp2a4,Cyp2a5 (MGI:88597,MGI:3648316,MGI:105055,MGI:88596) -chr19 41114291 41128380 19q13.2 19q13.2 124070 CYP2F1 Cytochrome P450, subfamily IIF, polypeptide 1 CYP2F1 1572 ENSG00000197446 CYP2A, CYP2B, CYP2F1 in 240kb Cyp2f2 (MGI:88608) -chr19 41193218 41207538 19q13.2 19q13.2 611529 CYP2S1 Cytochrome P450, family 2, subfamily S, polypeptide 1 CYP2S1 29785 ENSG00000167600 Cyp2s1 (MGI:1921384) -chr19 41219222 41261765 19q13.1-q13.2 19q13.2 109135 AXL AXL transforming sequence (a receptor tyrosine kinase) AXL 558 ENSG00000167601 Axl (MGI:1347244) -chr19 41262518 41307786 19q13.2 19q13.2 605800 HNRNPUL1, HNRPUL1, E1BAP5 Heterogeneous nuclear ribonucleoprotein U-like 1 HNRNPUL1 11100 ENSG00000105323 Hnrnpul1 (MGI:2443517) -chr19 41330322 41353921 19q13.1 19q13.2 190180 TGFB1, DPD1, CED, IBDIMDE Transforming growth factor, beta-1 TGFB1 7040 ENSG00000105329 Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3), Autosomal recessive; Camurati-Engelmann disease, 131300 (3), Autosomal dominant; {Cystic fibrosis lung disease, modifier of}, 219700 (3), Autosomal recessive Tgfb1 (MGI:98725) -chr19 41354416 41364533 19q13.2 19q13.2 611951 B9D2, MKS10, JBTS34 B9 domain-containing protein 2 B9D2 80776 ENSG00000123810 mutation identified in 1 MKS10 family ?Meckel syndrome 10, 614175 (3), Autosomal recessive; Joubert syndrome 34, 614175 (3), Autosomal recessive B9d2 (MGI:2387643) -chr19 41363946 41384082 19q13.2 19q13.2 618294 TMEM91, DSPC3 Transmembrane protein 91 TMEM91 641649 ENSG00000142046 Tmem91 (MGI:2443589) -chr19 41386373 41397358 19q13.2 19q13.2 606492 EXOSC5, RRP46 Exosome component 5 EXOSC5 56915 ENSG00000077348 Exosc5 (MGI:107889) -chr19 41397817 41425001 19q13.1-q13.2 19q13.2 608348 BCKDHA, MSUD1 Branched chain keto acid dehydrogenase E1, alpha polypeptide BCKDHA 593 ENSG00000248098 Maple syrup urine disease, type Ia, 248600 (3), Autosomal recessive Bckdha (MGI:107701) -chr19 41425358 41428729 19q13.2 19q13.2 615357 B3GNT8, BGALT15, B3GALT7 Beta-1,3-galactosyltransferase 8 B3GNT8 374907 ENSG00000177191 B3gnt8 (MGI:2385269) -chr19 41431317 41447821 19q13.2 19q13.2 617262 ATP5SL ATP5S-like protein DMAC2 55101 ENSG00000105341 Dmac2 (MGI:1913599) -chr19 41454168 41500648 19q13 19q13.2 618192 PCAT19, LINC01190 Prostate cancer-associated transcript 19, noncoding PCAT19 100505495 ENSG00000267107 -chr19 41549235 41586843 19q13.2 19q13.2 618191 CEACAM21 CEA cell adhesion molecule 21 CEACAM21 90273 ENSG00000007129 Ceacam3,Ceacam5,Ceacam9,Psg19,Psg27,Psg26,Psg28,Psg17,Psg23,Ceacam13,Ceacam12,Psg25,Ceacam11,Psg21,Ceacam15 (MGI:1347252,MGI:1891357,MGI:1891355,MGI:1347250,MGI:1891358,MGI:1891359,MGI:1917035,MGI:2141810,MGI:1891360,MGI:1891353,MGI:1914565,MGI:1914246,MGI:3646296,MGI:1920500,MGI:1347247) -chr19 41616985 41627086 19q13.2 19q13.2 619159 CEACAM4 CEA cell adhesion molecule 4 CEACAM4 1089 ENSG00000105352 Ceacam10,Psg19,Psg16,Psg27,Psg26,Psg18,Psg29,Psg28,Psg17,Psg23,Ceacam14,Ceacam13,Psg22,Ceacam12,Psg25,Ceacam11,Psg21,Psg20 (MGI:1347251,MGI:1347252,MGI:1891357,MGI:1891354,MGI:1891355,MGI:1347250,MGI:1891358,MGI:1891359,MGI:1917035,MGI:1891360,MGI:1891352,MGI:1891353,MGI:1914565,MGI:1914246,MGI:1891361,MGI:1914334,MGI:1347248,MGI:1347249) -chr19 41673302 41688269 19q13.2 19q13.2 619160 CEACAM7, CGM2 CEA cell adhesion molecule 7 CEACAM7 1087 ENSG00000007306 Ceacam1,Ceacam2,Ceacam9 (MGI:1347246,MGI:1347247,MGI:1347245) -chr19 41708625 41730432 19q13.2 19q13.2 114890 CEACAM5, CEA CEA cell adhesion molecule 5 CEACAM5 1048 ENSG00000105388 proximal to PSG cluster in 1.1-1.2Mb segment Ceacam1,Ceacam2 (MGI:1347246,MGI:1347245) -chr19 41755528 41772210 19q13.2 19q13.2 163980 CEACAM6, NCA CEA cell adhesion molecule 6 CEACAM6 4680 ENSG00000086548 in CEA cluster Ceacam1,Ceacam2 (MGI:1347246,MGI:1347245) -chr19 41844742 41852332 19q13.2 19q13.2 614806 DMRTC2 Doublesex- and MAB3-related transcription factor C2 DMRTC2 63946 ENSG00000142025 Dmrtc2 (MGI:1918491) -chr19 41860254 41872924 19q13.2 19q13.2 603474 RPS19, DBA, DBA1 Ribosomal protein S19 RPS19 6223 ENSG00000105372 Diamond-Blackfan anemia 1, 105650 (3), Autosomal dominant Rps19-ps6,Rps19 (MGI:5011818,MGI:1333780) -chr19 41877278 41881371 19q13.2 19q13.2 112205 CD79A, IGA CD79A antigen (immunoglobulin-associated alpha) CD79A 973 ENSG00000105369 Agammaglobulinemia 3, 613501 (3), Autosomal recessive Cd79a (MGI:101774) -chr19 41883183 41907451 19q13.13 19q13.2 601855 ARHGEF1, LBCL2, IMD62 Rho guanine nucleotide exchange factor, 115-kD ARHGEF1 9138 ENSG00000076928 mutation identified in 1 IMD62 family ?Immunodeficiency 62, 618459 (3), Autosomal recessive Arhgef1 (MGI:1353510) -chr19 41956682 41959320 19q13.2 19q13.2 604925 PRA1 Prenylated RAB acceptor 1 RABAC1 10567 ENSG00000105404 Rabac1 (MGI:1201692) -chr19 41966581 41994229 19q12-q13.2 19q13.2 182350 ATP1A3, DYT12, RDP, AHC2, CAPOS ATPase, Na+K+ transporting, alpha-3 polypeptide ATP1A3 478 ENSG00000105409 Alternating hemiplegia of childhood 2, 614820 (3), Autosomal dominant; Dystonia-12, 128235 (3), Autosomal dominant; CAPOS syndrome, 601338 (3), Autosomal dominant Atp1a3 (MGI:88107) -chr19 41998315 42071803 19q13.2 19q13.2 600283 GRIK5 Glutamate receptor, ionotropic, kainate 5 GRIK5 2901 ENSG00000105737 Grik5 (MGI:95818) -chr19 42086109 42197930 19q13.2 19q13.2 164176 POU2F2, OTF2, OCT2 POU domain, class 2, transcription factor 2 POU2F2 5452 ENSG00000028277 Pou2f2 (MGI:101897) -chr19 42198597 42220151 19q13.2 19q13.2 617078 DEDD2, FLAME3 Death effector domain-containing protein 2 DEDD2 162989 ENSG00000160570 Dedd2 (MGI:1914629) -chr19 42220311 42228200 19q13.2 19q13.2 614387 ZNF526, KIAA1951 Zinc finger protein 526 ZNF526 116115 ENSG00000167625 Zfp526 (MGI:2445181) -chr19 42230185 42243329 19q13.2 19q13.2 606784 GSK3A Glycogen synthase kinase 3-alpha GSK3A 2931 ENSG00000105723 Gsk3a (MGI:2152453) -chr19 42247568 42255127 19q13.1 19q13.2 611888 ERF, PE2, CRS4, CHYTS ETS2 repressor factor ERF 2077 ENSG00000105722 Craniosynostosis 4, 600775 (3), Autosomal dominant; Chitayat syndrome, 617180 (3), Autosomal dominant Erf (MGI:109637) -chr19 42268529 42295795 19q13.2 19q13.2 612082 CIC, KIAA0306, MRD45 Capicua transcriptional repressor CIC 23152 ENSG00000079432 Mental retardation, autosomal dominant 45, 617600 (3), Autosomal dominant Cic (MGI:1918972) -chr19 42297032 42302799 19q13.1 19q13.2 603074 PAFAH1B3 Platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit PAFAH1B3 5050 ENSG00000079462 Pafah1b3 (MGI:108414) -chr19 42325634 42378764 19q12 19q13.2 604267 MEGF8, EGFL4, CRPT2 Multiple epidermal growth factor-like domains 8 MEGF8 1954 ENSG00000105429 Carpenter syndrome 2, 614976 (3), Autosomal recessive Megf8 (MGI:2446294) -chr19 42387018 42390317 19q13 19q13.2 611764 CNFN Cornifelin CNFN 84518 ENSG00000105427 Cnfn (MGI:1919633) -chr19 42401511 42427420 19q13.1-q13.2 19q13.2 151750 LIPE, LHS, FPLD6 Lipase E, hormone-sensitive LIPE 3991 ENSG00000079435 Lipodystrophy, familial partial, type 6, 615980 (3), Autosomal recessive Lipe (MGI:96790) -chr19 42428277 42442945 19q11 19q13.2 611387 CXCL17, VCC1, DMC Chemokine (C-X-C motif) ligand 17 CXCL17 284340 ENSG00000189377 Cxcl17 (MGI:2387642) -chr19 42507305 42528481 19q13.2 19q13.2 109770 CEACAM1, BGP CEA cell adhesion molecule 1 CEACAM1 634 ENSG00000079385 in CEA cluster Ceacam1,Ceacam2 (MGI:1347246,MGI:1347245) -chr19 42580242 42595156 19q13.2 19q13.2 615747 CEACAM8, CD66B, CGM6 CEA cell adhesion molecule 8 CEACAM8 1088 ENSG00000124469 Ceacam2 (MGI:1347246) -chr19 42721641 42740485 19q13.2 19q13.2 176392 PSG3 Pregnancy-specific beta-1-glycoprotein-3 PSG3 5671 ENSG00000221826 Ceacam1,Ceacam2 (MGI:1347246,MGI:1347245) -chr19 42752685 42765691 19q13.2 19q13.2 176397 PSG8 Pregnancy-specific beta-1-glycoprotein-8 PSG8 440533 ENSG00000124467 Ceacam1,Ceacam2 (MGI:1347246,MGI:1347245) -chr19 42836996 42855717 19q13.2 19q13.2 176399 PSG10P, PSG10, PSG12 Pregnancy-specific beta-1-glycoprotein 10, pseudogene PSG10P 653492 -chr19 42866463 42879712 19q13.2 19q13.2 176390 PSG1, PSBG1, B1G1, SP1 Pregnancy-specific beta-1-glycoprotein-1 PSG1 5669 ENSG00000231924 distal to CEA Ceacam1,Ceacam2 (MGI:1347246,MGI:1347245) -chr19 42902085 42917893 19q13.2 19q13.31 176395 PSG6 Pregnancy-specific beta-1-glycoprotein-6 PSG6 5675 ENSG00000170848 Ceacam1,Ceacam2 (MGI:1347246,MGI:1347245) -chr19 42924131 42937206 19q13.2 19q13.31 176396 PSG7 Pregnancy-specific beta-1-glycoprotein-7 PSG7 5676 ENSG00000221878 -chr19 43007655 43026468 19q13.2 19q13.31 176401 PSG11, PSG13, PSG14 Pregnancy-specific beta-1-glycoprotein-11 PSG11 5680 ENSG00000243130 Ceacam1,Ceacam2,Ceacam9 (MGI:1347246,MGI:1347247,MGI:1347245) -chr19 43064208 43082700 19q13.2 19q13.31 176391 PSG2, PSBG2 Pregnancy-specific beta-1-glycoprotein-2 PSG2 5670 ENSG00000242221 Ceacam1,Ceacam2,Ceacam9 (MGI:1347246,MGI:1347247,MGI:1347245) -chr19 43167742 43186535 19q13.2 19q13.31 176394 PSG5 Pregnancy-specific beta-1-glycoprotein-5 PSG5 5673 ENSG00000204941 Ceacam1,Ceacam2,Ceacam9 (MGI:1347246,MGI:1347247,MGI:1347245) -chr19 43192701 43205637 19q13.2 19q13.31 176393 PSG4 Pregnancy-specific beta-1-glycoprotein-4 PSG4 5672 ENSG00000243137 Ceacam1,Ceacam2 (MGI:1347246,MGI:1347245) -chr19 43253281 43269529 19q13.2 19q13.31 176398 PSG9, PSG11 Pregnancy-specific beta-1-glycoprotein-9 PSG9 5678 ENSG00000183668 Ceacam1,Ceacam2 (MGI:1347246,MGI:1347245) -chr19 43349055 43349547 19q13.2 19q13.31 605157 PRG1 p53-responsive gene 1 23574 -chr19 43353685 43366062 19q13.2 19q13.31 162860 NB1, PRV1, CD177, HNA2A Neutrophil-specific antigen 1 CD177 57126 ENSG00000204936 Lypd10,Cd177 (MGI:2681843,MGI:1916141) -chr19 43388610 43418612 19q13.31 19q13.31 612665 TEX101, SGRG, TES101RP Testis-expressed gene 101 TEX101 83639 ENSG00000131126 Tex101 (MGI:1930791) -chr19 43460786 43465607 19q13.1-q13.2 19q13.31 609484 LYPD3 LY6/PLAUR domain-containing protein 3 LYPD3 27076 ENSG00000124466 Lypd3 (MGI:1919684) -chr19 43506718 43527200 19q13.32 19q13.31 608451 ETHE1, HSCO, D83198 ETHE1 persulfide dioxygenase ETHE1 23474 ENSG00000105755 Ethylmalonic encephalopathy, 602473 (3), Autosomal recessive Ethe1 (MGI:1913321) -chr19 43543310 43575526 19q13.2 19q13.31 194360 XRCC1, SCAR26 X-ray repair cross complementing 1 XRCC1 7515 ENSG00000073050 mutation identified in 1 SCAR26 patient ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3), Autosomal recessive Xrcc1 (MGI:99137) -chr19 43622367 43641983 19q13.2 19q13.31 609744 CADM4, IGSF4C, TSLL2, NECL4, SYNCAM4 Cell adhesion molecule 4 CADM4 199731 ENSG00000105767 Cadm4 (MGI:2449088) -chr19 43646094 43670196 19q13 19q13.31 173391 PLAUR, URKR Plasminogen activator, urokinase, receptor PLAUR 5329 ENSG00000011422 Plaur (MGI:97612) -chr19 43727982 43754961 19q13.31 19q13.31 613176 C19orf61, SMG9, HBMS Chromosome 19 open reading frame 61 SMG9 56006 ENSG00000105771 Heart and brain malformation syndrome, 616920 (3), Autosomal recessive Smg9 (MGI:1919247) -chr19 43766532 43782138 19q13.2 19q13.31 602754 KCNN4, KCA4, SK4, DHS2 Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 KCNN4 3783 ENSG00000104783 Dehydrated hereditary stomatocytosis 2, 616689 (3), Autosomal dominant Kcnn4 (MGI:1277957) -chr19 43912623 43935314 19q13.2 19q13.31 194554 ZNF45, ZNF13, KOX5 Zinc finger protein-45 ZNF45 7596 ENSG00000124459 Zfp94 (MGI:107610) -chr19 43967005 43998325 19q13.2-q13.32 19q13.31 604086 ZNF155 Zinc finger protein-155 ZNF155 7711 ENSG00000204920 -chr19 44025323 44033109 19q13.2 19q13.31 617357 ZNF222 Zinc finger protein 222 ZNF222 7673 ENSG00000159885 -chr19 44094349 44109830 19q13.2-qter 19q13.31 194555 ZNF224, ZNF255, BMZF2, KOX22, ZNF27 Zinc finger protein-224 ZNF224 7767 ENSG00000267680 -chr19 44141529 44160312 19q13.31 19q13.31 604750 ZNF234, ZNF269, HZF4 Zinc finger protein 234 ZNF234 10780 ENSG00000263002 -chr19 44286347 44305706 19q13.2 19q13.31 604749 ZFP93, ANF270, HZF6 Zinc finger protein 93, mouse, homolog of ZNF235 9310 ENSG00000159917 Zfp235,Zfp111,Zfp93 (MGI:107611,MGI:1929114,MGI:1929117) -chr19 44326552 44367216 19p13.1-p12 19q13.31 603994 ZNF112 Zinc finger protein-112 ZNF112 7771 ENSG00000062370 Zfp112 (MGI:1929115) -chr19 44474430 44500521 19q13.2 19q13.31 606740 ZNF180 Zinc finger protein-180 ZNF180 7733 ENSG00000167384 Zfp180 (MGI:1923701) -chr19 44643909 44666161 19q13.2-q13.3 19q13.31 173850 PVR, PVS Polio virus receptor PVR 5817 ENSG00000073008 Pvr (MGI:107741) -chr19 44665859 44684354 19q13.31 19q13.31 606691 CEACAM19, CEAL1 CEA cell adhesion molecule 19 CEACAM19 56971 ENSG00000186567 Ceacam19 (MGI:2443001) -chr19 44699150 44710717 19q13.31 19q13.31-q13.32 614591 CEACAM16, CEAL2, DFNA4B, DFNB113 CEA cell adhesion molecule 16 CEACAM16 388551 ENSG00000213892 Deafness, autosomal dominant 4B, 614614 (3), Autosomal dominant; Deafness, autosomal recessive 113, 618410 (3), Autosomal recessive Ceacam16 (MGI:2685615) -chr19 44742619 44760043 19q13 19q13.32 109560 BCL3 B-cell CLL/lymphoma-3 BCL3 602 ENSG00000069399 Leukemia/lymphoma, B-cell, 3, 109560 (2) Bcl3 (MGI:88140) -chr19 44777854 44800651 19q13.2 19q13.32 608453 CBLC CAS-BR-M murine ecotropic retroviral transforming sequence C CBLC 23624 ENSG00000142273 Cblc (MGI:1931457) -chr19 44809058 44821420 19q13.2 19q13.32 612773 LU, AU, BCAM B-cell adhesion molecule BCAM 4059 ENSG00000187244 linked to SE [Blood group, Lutheran system], 111200 (3); [Blood group, Auberger system], 111200 (3); [Blood group, Lutheran null], 247420 (3), Autosomal recessive Bcam (MGI:1929940) -chr19 44846296 44889222 19q13.2 19q13.32 600798 NECTIN2, PVRL2, HVEB, PVRR2, PRR2 Nectin 2 NECTIN2 5819 ENSG00000130202 Nectin2 (MGI:97822) -chr19 44891225 44903688 19q13.2 19q13.32 608061 TOMM40, TOM40, PEREC1 Translocase of outer mitochondrial membrane 40 TOMM40 10452 ENSG00000130204 Tomm40 (MGI:1858259) -chr19 44905795 44909392 19q13.2 19q13.32 107741 APOE, AD2, LPG, LDLCQ5 Apolipoprotein E APOE 348 ENSG00000130203 mutation identified in 1 APOE3-Christchurch patient Alzheimer disease 2, 104310 (3), Autosomal dominant; Sea-blue histiocyte disease, 269600 (3), Autosomal recessive; {?Alzheimer disease, protection against, due to APOE3-Christchurch}, 607822 (3), Autosomal dominant; {Coronary artery disease, severe, susceptibility to}, 617347 (3); Lipoprotein glomerulopathy, 611771 (3); {?Macular degeneration, age-related}, 603075 (3), Autosomal dominant; Hyperlipoproteinemia, type III, 617347 (3) Apoe (MGI:88057) -chr19 44914324 44919345 19q13.2 19q13.32 107710 APOC1 Apolipoprotein C-I APOC1 341 ENSG00000130208 Apoc1 (MGI:88053) -chr19 44942236 44945495 19q13.2 19q13.32 600745 APOC4 Apolipoprotein C-IV APOC4 346 ENSG00000267467 555bp upstream of APOC2 Apoc4 (MGI:87878) -chr19 44946050 44949564 19q13.2 19q13.32 608083 APOC2 Apolipoprotein C-II APOC2 344 ENSG00000234906 Hyperlipoproteinemia, type Ib, 207750 (3), Autosomal recessive Apoc2l,Apoc2 (MGI:5753381,MGI:88054) -chr19 44954584 44993340 19q13.3 19q13.32 604783 CLPTM1 Cleft lip and palate-associated transmembrane protein 1 CLPTM1 1209 ENSG00000104853 Clptm1 (MGI:1927155) -chr19 45001448 45038193 19q13.32 19q13.32 604758 RELB, IREL, IMD53 v-rel avian reticuloendotheliosis viral oncogene homolog B RELB 5971 ENSG00000104856 mutation identified in 1 IMD53 family ?Immunodeficiency 53, 617585 (3), Autosomal recessive Relb (MGI:103289) -chr19 45039044 45070955 19q13.32 19q13.32 618532 CLASRP, CLASP CLK4-associating serine/arginine-rich protein CLASRP 11129 ENSG00000104859 Clasrp (MGI:1855695) -chr19 45071499 45076477 19q13.32 19q13.32 613226 ZNF296, ZFP296, ZNF342 Zinc finger protein 296 ZNF296 162979 ENSG00000170684 Zfp296 (MGI:1926956) -chr19 45075626 45091517 19q13.32 19q13.32 607419 GEMIN7 GEM-associated protein 7 GEMIN7 79760 ENSG00000142252 Gemin7 (MGI:1916981) -chr19 45162932 45179265 19q13.32 19q13.32 610396 TRAPPC6A Trafficking protein particle complex, subunit 6A TRAPPC6A 79090 ENSG00000007255 Trappc6a (MGI:1914341) -chr19 45178783 45202714 19q13 19q13.32 609762 BLOC1S3, BLOS3, HPS8 Biogenesis of lysosome-related organelles complex 1, subunit 3 BLOC1S3 388552 ENSG00000189114 Hermansky-Pudlak syndrome 8, 614077 (3), Autosomal recessive Bloc1s3 (MGI:2678952) -chr19 45212369 45245406 19q13.32 19q13.32 616927 EXOC3L2, XTP7 Exocyst complex component 3-like 2 EXOC3L2 90332 ENSG00000283632 Exoc3l2 (MGI:1921713) -chr19 45251270 45305283 19q13.2 19q13.32 606495 MARK4, KIAA1860, MARKL1 Map/microtubule affinity-regulating kinase-4 MARK4 57787 ENSG00000007047 Mark4 (MGI:1920955) -chr19 45306412 45322874 19q13 19q13.32 123310 CKM, CKMM Creatine kinase, muscle type CKM 1158 ENSG00000104879 Ckm (MGI:88413) -chr19 45340749 45351547 19q13.2-q13.3 19q13.32 601334 KLC3, KLC2L Kinesin, light chain, 3 KLC3 147700 ENSG00000104892 Klc3 (MGI:1277971) -chr19 45349836 45370646 19q13.2-q13.3 19q13.32 126340 ERCC2, EM9, XPD, COFS2, TTD1 Excision repair cross complementing rodent repair deficiency, complementation group-2 ERCC2 2068 ENSG00000104884 < 250kb from ERCC1; mutation identified in 1 COFS2 patient Xeroderma pigmentosum, group D, 278730 (3), Autosomal recessive; Trichothiodystrophy 1, photosensitive, 601675 (3), Autosomal recessive; ?Cerebrooculofacioskeletal syndrome 2, 610756 (3), Autosomal recessive Ercc2 (MGI:95413) -chr19 45379633 45406360 19q13.32 19q13.32 607463 PPP1R13L, RAI, IASPP, NKIP1 Protein phosphatase 1, regulatory subunit 13-like PPP1R13L 10848 ENSG00000104881 Ppp1r13l (MGI:3525053) -chr19 45406643 45410736 19q13.2-q13.3 19q13.32 107325 CD3EAP, ASE1, PAF49 CD3-epsilon-associated protein POLR1G 10849 ENSG00000117877 Cd3eap (MGI:1917583) -chr19 45407333 45451546 19q13.2-q13.3 19q13.32 126380 ERCC1, UV20, COFS4 Excision repair cross complementing rodent repair deficiency, complementation group-1 ERCC1 2067 ENSG00000012061 distal to CKM Cerebrooculofacioskeletal syndrome 4, 610758 (3), Autosomal recessive Ercc1 (MGI:95412) -chr19 45467995 45475178 19q13.3 19q13.32 164772 FOSB FOSB protooncogene, AP1 transcription factor subunit FOSB 2354 ENSG00000125740 Fosb (MGI:95575) -chr19 45485293 45497046 19q13.3 19q13.32 603183 RTN2, NSPL1, SPG12 Reticulon-2 RTN2 6253 ENSG00000125744 Spastic paraplegia 12, autosomal dominant, 604805 (3), Autosomal dominant Rtn2 (MGI:107612) -chr19 45507458 45526988 19q13.2-q13.3 19q13.32 601703 VASP Vasodilator-stimulated phosphoprotein VASP 7408 ENSG00000125753 Vasp (MGI:109268) -chr19 45527426 45584801 19q13.2-q13.3 19q13.32 606580 OPA3, MGA3 Outer mitochondrial membrane lipid metabolism regulator OPA3 OPA3 80207 ENSG00000125741 3-methylglutaconic aciduria, type III, 258501 (3), Autosomal recessive; Optic atrophy 3 with cataract, 165300 (3), Autosomal dominant Opa3 (MGI:2686271) -chr19 45589763 45602211 19q13.2-q13.3 19q13.32 600551 GPR4 G protein-coupled receptor-4 GPR4 2828 ENSG00000177464 Gpr4 (MGI:2441992) -chr19 45609395 45645628 19q13.32 19q13.32 617494 EML2, EMAP2, ELP70 Echinoderm microtubule-associated protein-like 2 EML2 24139 ENSG00000125746 Eml2 (MGI:1919455) -chr19 45668186 45683721 19q13.3 19q13.32 137241 GIPR, PGQTL2 Gastric inhibitory polypeptide receptor GIPR 2696 ENSG00000010310 Gipr (MGI:1352753) -chr19 45687453 45692315 19q13.32 19q13.32 601061 SNRPD2 Small nuclear ribonucleoprotein polypeptide D2 SNRPD2 6633 ENSG00000125743 Snrpd2 (MGI:98345) -chr19 45710628 45733176 19q13.3 19q13.32 609117 FBXO46, FBX46 F-box only protein 46 FBXO46 23403 ENSG00000177051 Fbxo46 (MGI:2444918) -chr19 45764784 45769251 19q13.3 19q13.32 600963 SIX5, DMAHP, BOR2 SIX homeobox 5 SIX5 147912 ENSG00000177045 Branchiootorenal syndrome 2, 610896 (3) Six5 (MGI:106220) -chr19 45769708 45782489 19q13.2-q13.3 19q13.32 605377 DMPK, DM, DMK Dystrophia myotonica-protein kinase DMPK 1760 ENSG00000104936 distal to APOLP2; distal to CKM Myotonic dystrophy 1, 160900 (3), Autosomal dominant Dmpk (MGI:94906) -chr19 45782946 45792844 19q13.3 19q13.32 609857 DMWD, DMRN9 Dystrophia myotonica WD repeat-containing protein DMWD 1762 ENSG00000185800 Dmwd (MGI:94907) -chr19 45795712 45815341 19q13.3 19q13.32 607548 RSPH6A, RSHL1 Radial spoke head 6 homolog A RSPH6A 81492 ENSG00000104941 Rsph6a (MGI:1927643) -chr19 45815409 45863166 19q13.3 19q13.32 602388 SPK Symplekin SYMPK 8189 ENSG00000125755 Sympk (MGI:1915438) -chr19 45864325 45873796 19q13.2-q13.4 19q13.32 602295 FOXA3, HNF3G Forkhead box A3 (hepatocyte nuclear factor-3, gamma) FOXA3 3171 ENSG00000170608 Foxa3 (MGI:1347477) -chr19 45883607 45886140 19q13.32 19q13.32 615331 IRF2BP1 Interferon regulatory factor 2-binding protein 1 IRF2BP1 26145 ENSG00000170604 Irf2bp1 (MGI:2442159) -chr19 45890019 45902618 19q13.32 19q13.32 617861 MYPOP MYB-related transcription factor, partner of profilin MYPOP 339344 ENSG00000176182 Mypop (MGI:2446472) -chr19 45913213 45914777 19q13.32 19q13.32 608228 NANOS2, NOS2 NANOS C2HC-type zinc finger 2 NANOS2 339345 ENSG00000188425 Nanos2 (MGI:2676627) -chr19 45933733 45973864 19q13.3 19q13.32 601991 NOVA2, ANOVA, NEDASB NOVA alternative splicing regulator 2 NOVA2 4858 ENSG00000104967 Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, 618859 (3), Autosomal dominant Nova2 (MGI:104296) -chr19 46019152 46023052 19q13 19q13.32 604963 PGRP, PGRPS Peptidoglycan recognition protein PGLYRP1 8993 ENSG00000008438 Pglyrp1 (MGI:1345092) -chr19 46039181 46077628 19p13.3 19q13.32 610547 IGFL4 IGF-like family member 4 IGFL4 444882 ENSG00000204869 Igfl3 (MGI:2685426) -chr19 46078512 46215361 19p13.3 19q13.32 610545 IGFL2 IGF-like family member 2 IGFL2 147920 ENSG00000204866 Igfl3 (MGI:2685426) -chr19 46119777 46127100 19p13.3 19q13.32 610546 IGFL3 IGF-like family member 3 IGFL3 388555 ENSG00000188624 Igfl3 (MGI:2685426) -chr19 46229741 46231242 19p13.3 19q13.32 610544 IGFL1 IGF-like family member 1 IGFL1 374918 ENSG00000188293 -chr19 46297041 46343432 19q13.2 19q13.32 609976 HIF3A, IPAS Hypoxia-inducible factor 3, alpha subunit HIF3A 64344 ENSG00000124440 Hif3a (MGI:1859778) -chr19 46347068 46390974 19q13.3 19q13.32 600658 PPP5C, PP5 Protein phosphatase-5, catalytic subunit PPP5C 5536 ENSG00000011485 Ppp5c (MGI:102666) -chr19 46410328 46413563 19q13.2-q13.32 19q13.32 614145 CCDC8, 3M3 Coiled-coil domain-containing protein 8 CCDC8 83987 ENSG00000169515 3-M syndrome 3, 614205 (3), Autosomal recessive Ccdc8 (MGI:3612184) -chr19 46601073 46610781 19q13.2-q13.3 19q13.32 114183 CALM3, LQT16, CPVT6 Calmodulin-3 CALM3 808 ENSG00000160014 mutation identified in 1 CPVT6 family Long QT syndrome 16, 618782 (3), Autosomal dominant; ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782 (3), Autosomal dominant Calm3 (MGI:103249) -chr19 46610039 46625096 19q13.3 19q13.32 600022 PTGIR Prostaglandin I2 (prostacyclin) receptor (IP) PTGIR 5739 ENSG00000160013 Ptgir (MGI:99535) -chr19 46647550 46661181 19q13.3 19q13.32 611112 DACT3 Dapper, antagonist of beta-catenin, 3 DACT3 147906 ENSG00000197380 Dact3 (MGI:3654828) -chr19 46674315 46717113 19q13.3 19q13.32 607074 PRKD2, PKD2 Protein kinase D2 PRKD2 25865 ENSG00000105287 Prkd2 (MGI:2141917) -chr19 46719508 46746474 19q13.32 19q13.32 614767 STRN4, ZIN Striatin, calmodulin-binding protein 4 STRN4 29888 ENSG00000090372 Strn4 (MGI:2142346) -chr19 46746014 46758574 19q13.3 19q13.32 606596 FKRP, MDC1C, LGMDR9, MDDGA5, MDDGB5, MDDGC5 Fukutin-related protein FKRP 79147 ENSG00000181027 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3), Autosomal recessive Fkrp (MGI:2447586) -chr19 46774882 46788593 19q13.3 19q13.32 109190 SLC1A5, RDRC, M7V1, M7VS1 Solute carrier family 1 (neutral amino acid transporter), member 5 (receptor for RD114/simian type D retroviruses) SLC1A5 6510 ENSG00000105281 Slc1a5 (MGI:105305) -chr19 46838166 46850845 19q13.2-q13.3 19q13.32 602242 AP2S1, CLAPS2, AP17, HHC3 Adaptor-related protein complex 2, sigma 1 subunit AP2S1 1175 ENSG00000042753 Hypocalciuric hypercalcemia, type III, 600740 (3), Autosomal dominant Ap2s1 (MGI:2141861) -chr19 46860996 47005076 19q13.2-q13.4 19q13.32 605277 GRLF1, P190A Glucocorticoid receptor DNA-binding factor 1 ARHGAP35 2909 ENSG00000160007 Arhgap35 (MGI:1929494) -chr19 47019836 47045774 19q13.2-q13.3 19q13.32 603346 NPAS1, MOP5 Neuronal PAS domain protein 1 NPAS1 4861 ENSG00000130751 Npas1 (MGI:109205) -chr19 47064186 47114436 19q13.32 19q13.32 619498 ZC3H4, C19orf7 Zinc finger CCCH domain-containing protein 4 ZC3H4 23211 ENSG00000130749 -chr19 47130834 47210635 19q13.32 19q13.32 613294 SAE1, SUA1, AOS1 SUMO1-activating enzyme, subunit 1 SAE1 10055 ENSG00000142230 Sae1 (MGI:1929264) -chr19 47220821 47232997 19q 19q13.32 605854 PUMA p53-upregulated modulator of apoptosis BBC3 27113 ENSG00000105327 Bbc3 (MGI:2181667) -chr19 47309860 47322065 19q13.3-q13.4 19q13.32 113995 C5AR1, C5R1, C5AR Complement component 5a receptor 1 C5AR1 728 ENSG00000197405 C5ar1 (MGI:88232) -chr19 47331613 47347328 19q13.4 19q13.32 609949 C5AR2, GPF77, C5L2 Complement component 5a receptor 2 C5AR2 27202 ENSG00000134830 C5ar2 (MGI:2442013) -chr19 47349314 47382703 19q13.32 19q13.32 615475 DHX34, KIAA0134 DExH-box helicase 34 DHX34 9704 ENSG00000134815 Dhx34 (MGI:1918973) -chr19 47403123 47422232 19q13.32 19q13.32 619443 MEIS3, MRG2 Meis homeobox 3 MEIS3 56917 ENSG00000105419 Meis3 (MGI:108519) -chr19 47428016 47471892 19q13.32 19q13.32 601901 SLC8A2, NCX2 Solute carrier family 8, member 2 (sodium-calcium exchanger 2) SLC8A2 6543 ENSG00000118160 Slc8a2 (MGI:107996) -chr19 47475140 47486791 19q13.4 19q13.32 615620 KPTN, 2E4, MRT41 Kaptin KPTN 11133 ENSG00000118162 Mental retardation, autosomal recessive 41, 615637 (3), Autosomal recessive Kptn (MGI:1890380) -chr19 47487636 47515090 19q13.3 19q13.32-q13.33 603215 NAPA, SNAPA NSF attachment protein, alpha NAPA 8775 ENSG00000105402 Napa (MGI:104563) -chr19 47608195 47703276 19q13.3 19q13.33 605690 BICRA, GLTSCR1, CSS12 BRD4-interacting chromatin remodeling complex-associated protein BICRA 29998 ENSG00000063169 Coffin-Siris syndrome 12, 619325 (3), Autosomal dominant Bicra (MGI:2154263) -chr19 47713421 47743133 19q13.3 19q13.33 605890 EHD2 EH domain-containing 2 EHD2 30846 ENSG00000024422 Ehd2 (MGI:2154274) -chr19 47745545 47757057 19q13.3 19q13.33 605691 NOP53, GLTSCR2 NOP53 ribosome biogenesis factor NOP53 29997 ENSG00000105373 Nop53 (MGI:2154441) -chr19 47778702 47784681 19q13.3 19q13.33 603235 SELENOW, SEPW1 Selenoprotein W SELENOW 6415 ENSG00000178980 Selenow (MGI:1100878) -chr19 47801242 47803603 19q13.32 19q13.33 611166 TPRX1 Tetrapeptide repeat homeobox 1 TPRX1 284355 ENSG00000178928 -chr19 47821936 47843323 19q13.3 19q13.33 602225 CRX, CORD2, CRD, LCA7 Cone-rod homeo box-containing gene CRX 1406 ENSG00000105392 Leber congenital amaurosis 7, 613829 (3); Cone-rod retinal dystrophy-2, 120970 (3), Autosomal dominant Crx (MGI:1194883) -chr19 47870466 47886314 19q13.3 19q13.33 125263 SULT2A1, STD Sulfotransferase family 2A, dehydroepiandrosterone-preferring, member 1 (DHEA sulfotransferase) SULT2A1 6822 ENSG00000105398 Sult2a3,Sult2a2,Sult2a1,Sult2a8,Sult2a6,Sult2a5 (MGI:3648915,MGI:98430,MGI:1924221,MGI:3648378,MGI:3645873,MGI:107550) -chr19 47967257 47992169 19q13.32 19q13.33 612213 BSPH1 Bovine seminal plasma protein-like 1 BSPH1 100131137 ENSG00000188334 Bsph1 (MGI:2685613) -chr19 47994631 48025153 19q13.33 19q13.33 607443 ELSPBP1 Epididymal sperm binding protein 1 ELSPBP1 64100 ENSG00000169393 -chr19 48029382 48048341 19q13.33 19q13.33 607315 CABP5, CABP3 Calcium-binding protein 5 CABP5 56344 ENSG00000105507 Cabp5 (MGI:1352746) -chr19 48047845 48111382 19q13.3 19q13.33 603602 PLA2G4C Phospholipase A2, group IVC PLA2G4C 8605 ENSG00000105499 Pla2g4c (MGI:1196403) -chr19 48115444 48170594 19q13.2-q13.3 19q13.33 126391 LIG1 Ligase I, DNA, ATP-dependent LIG1 3978 ENSG00000105486 Lig1 (MGI:101789) -chr19 48203147 48256263 19q13.3 19q13.33 609051 CARD8, TUCAN, KIAA0955, NDPP1, IBD30 Caspase recruitment domain-containing protein 8 CARD8 22900 ENSG00000105483 mutation identified in 1 IBD30 family ?Inflammatory bowel disease (Crohn disease) 30, 619079 (3), Autosomal dominant -chr19 48270080 48287607 19q13.33 19q13.33 603996 ZNF114 Zinc finger protein-114 ZNF114 163071 ENSG00000178150 -chr19 48296451 48321970 19q13.3 19q13.33 615038 CCDC114, CILD20 Coiled-coil domain-containing protein 114 ODAD1 93233 ENSG00000105479 Ciliary dyskinesia, primary, 20, 615067 (3), Autosomal recessive Odad1 (MGI:2446120) -chr19 48325503 48330553 19q13.3 19q13.33 602335 EMP3 Epithelial membrane protein 3 EMP3 2014 ENSG00000142227 Emp3 (MGI:1098729) -chr19 48364266 48376376 19q13.3 19q13.33 608373 SYNGR4 Synaptogyrin 4 SYNGR4 23546 ENSG00000105467 Syngr4 (MGI:1928903) -chr19 48382574 48391550 19q13.33 19q13.33 131235 KDELR1, ERD2, HDEL KDEL endoplasmic reticulum protein retention receptor 1 KDELR1 10945 ENSG00000105438 Kdelr1 (MGI:1915387) -chr19 48393667 48444936 19q13.1-qter 19q13.33 602717 GRIN2D, NMDAR2D, DEE46 Glutamate receptor, ionotropic, N-methyl-D-aspartate 2D GRIN2D 2906 ENSG00000105464 Developmental and epileptic encephalopathy 46, 617162 (3), Autosomal dominant Grin2d (MGI:95823) -chr19 48445982 48457021 19q13.3 19q13.33 610597 GRWD1, GRWD, KIAA1942 Glutamate-rich WD repeat-containing protein 1 GRWD1 83743 ENSG00000105447 Grwd1 (MGI:2141989) -chr19 48455573 48466979 19q13.33 19q13.33 603953 KCNJ14 Potassium inwardly-rectifying channel, subfamily J, member 14 KCNJ14 3770 ENSG00000182324 Kcnj14 (MGI:2384820) -chr19 48469340 48482313 19q13 19q13.33 602488 CYTH2, PSCD2, ARNO, PSCD2L Cytohesin 2 CYTH2 9266 ENSG00000105443 Cyth2 (MGI:1334255) -chr19 48552171 48599426 19q13.3 19q13.33 604125 SULT2B1, ARCI14 Sulfotransferase family 2B, member 1 SULT2B1 6820 ENSG00000088002 Ichthyosis, congenital, autosomal recessive 14, 617571 (3), Autosomal recessive Sult2b1 (MGI:1926342) -chr19 48606741 48607713 19q13.33 19q13.33 609932 SPACA4, SAMP14 Sperm acrosome-associated protein 4 SPACA4 171169 ENSG00000177202 Spaca4 (MGI:1916613) -chr19 48615330 48619177 19q 19q13.33 604179 RPL18, DBA18 Ribosomal protein L18 RPL18 6141 ENSG00000063177 mutation identified in 1 DBA18 family ?Diamond-Blackfan anemia 18, 618310 (3), Autosomal dominant Rpl18 (MGI:98003) -chr19 48619408 48630406 19q13.2 19q13.33 607092 SPHK2 Sphingosine kinase 2 SPHK2 56848 ENSG00000063176 Sphk2 (MGI:1861380) -chr19 48630029 48637378 19q13.3 19q13.33 124097 DBP D site of albumin promoter binding protein DBP 1628 ENSG00000105516 Dbp (MGI:94866) -chr19 48637945 48646186 19q13.2-q13.3 19q13.33 604644 CA11, CARP2 Carbonic anhydrase XI CA11 770 ENSG00000063180 Car11 (MGI:1336193) -chr19 48695970 48705950 19q13.3 19q13.33 182100 FUT2, SE, B12QTL1 Fucosyltransferase-2 (secretor) FUT2 2524 ENSG00000176920 H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1 {Norwalk virus infection, resistance to} (3); {Vitamin B12 plasma level QTL1}, 612542 (3); [Bombay phenotype, digenic], 616754 (3), Autosomal recessive Fut2 (MGI:109374) -chr19 48712440 48719897 19q13.33 19q13.33 610349 MAMSTR, MASTR MEF2-activating SAP transcriptional regulator MAMSTR 284358 ENSG00000176909 Mamstr (MGI:1921740) -chr19 48720584 48740609 19q13.33 19q13.33 609623 RASIP1, RAIN Ras-interacting protein 1 RASIP1 54922 ENSG00000105538 Rasip1 (MGI:1917153) -chr19 48740851 48746908 19q13.33 19q13.33 609278 IZUMO1, MGC34799 Izumo sperm-egg fusion protein 1 IZUMO1 284359 ENSG00000182264 Izumo1 (MGI:1920706) -chr19 48748010 48755357 19q13.3 19q13.33 211100 FUT1, H, HH Fucosyltransferase-1 (Bombay phenotype) FUT1 2523 ENSG00000174951 SE tightly linked [Bombay phenotype], 616754 (3), Autosomal recessive Fut1 (MGI:109375) -chr19 48755523 48758329 19q13 19q13.33 609436 FGF21 Fibroblast growth factor 21 FGF21 26291 ENSG00000105550 Fgf21 (MGI:1861377) -chr19 48795063 48811028 19q13 19q13.33 113530 BCAT2, BCT2, HVLI Branched chain aminotransferase-2, mitochondrial BCAT2 587 ENSG00000105552 mutation identified in 1 HVLI patient ?Hypervalinemia or hyperleucine-isoleucinemia, 618850 (3), Autosomal recessive Bcat2 (MGI:1276534) -chr19 48813013 48836687 19q13.33 19q13.33 612832 HSD17B14, DHRS10, RETSDR3 17-beta-hydroxysteroid dehydrogenase XIV HSD17B14 51171 ENSG00000087076 Hsd17b14 (MGI:1913315) -chr19 48837091 48868621 19q13.33 19q13.33 607769 PLEKHA4, PEPP1 Pleckstrin homology domain-containing protein, family A, member 4 PLEKHA4 57664 ENSG00000105559 Plekha4 (MGI:1916467) -chr19 48872420 48876057 19q13.2 19q13.33 611048 PPP1R15A, GADD34 Protein phosphatase 1, regulatory subunit 15A PPP1R15A 23645 ENSG00000087074 Ppp1r15a (MGI:1927072) -chr19 48880966 48898743 19q13.1 19q13.33 602309 TULP2 TUB-like protein 2 TULP2 7288 ENSG00000104804 Tulp2 (MGI:1861600) -chr19 48900311 48923371 19q13.2-q13.4 19q13.33 601323 NUCB1 Nucleobindin 1 NUCB1 4924 ENSG00000104805 Nucb1 (MGI:97388) -chr19 48932789 48944968 19q13.33 19q13.33 606377 DHDH, HUM2DD Dimeric dihydrodiol dehydrogenase DHDH 27294 ENSG00000104808 Dhdh (MGI:1919005) -chr19 48954824 48961797 19q13.3-q13.4 19q13.33 600040 BAX BCL2-associated X protein BAX 581 ENSG00000087088 Colorectal cancer, somatic, 114500 (3); T-cell acute lymphoblastic leukemia, somatic, 613065 (3) Bax (MGI:99702) -chr19 48965308 48966878 19q13.3-q13.4 19q13.33 134790 FTL, NBIA3, LFTD Ferritin, light chain FTL 2512 ENSG00000087086 Hyperferritinemia-cataract syndrome, 600886 (3), Autosomal dominant; L-ferritin deficiency, dominant and recessive, 615604 (3), Autosomal dominant, Autosomal recessive; Neurodegeneration with brain iron accumulation 3, 606159 (3), Autosomal dominant Ftl1,Ftl2-ps (MGI:95590,MGI:95589) -chr19 48968129 48993308 19q13.3 19q13.33 138570 GYS1, GYS Glycogen synthase GYS1 2997 ENSG00000104812 Glycogen storage disease 0, muscle, 611556 (3), Autosomal recessive Gys1 (MGI:101805) -chr19 48993447 49015994 19q13.3 19q13.33 604788 RUVBL2, TIP48, ECP51 RUVB, E. coli, homolog-like 2 (TATA box-binding protein-interacting protein) RUVBL2 10856 ENSG00000183207 Ruvbl2 (MGI:1342299) -chr19 49015979 49017090 19q13.32 19q13.33 152780 LHB, HH23 Luteinizing hormone, beta polypeptide LHB 3972 ENSG00000104826 beta chains of FSH, TSH on 11p, 1p, respectively Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3), Autosomal recessive Lhb (MGI:96782) -chr19 49022868 49024332 19q13.32 19q13.33 118860 CGB Chorionic gonadotropin, beta polypeptide CGB3 1082 ENSG00000104827 at least 5 genes -chr19 49031889 49033237 19q13.33 19q13.33 608824 CGB2 Chorionic gonadotropin, beta polypeptide 2 CGB2 114336 ENSG00000104818 Lhb (MGI:96782) -chr19 49035568 49036894 19q13.33 19q13.33 608823 CGB1 Chorionic gonadotropin, beta polypeptide 1 CGB1 114335 ENSG00000267631 Lhb (MGI:96782) -chr19 49043847 49045310 19q13.33 19q13.33 608825 CGB5 Chorionic gonadotropin, beta polypeptide 5 CGB5 93659 ENSG00000189052 -chr19 49047637 49049110 19q13.33 19q13.33 608827 CGB8 Chorionic gonadotropin, beta polypeptide 8 CGB8 94115 ENSG00000213030 Lhb (MGI:96782) -chr19 49054273 49057748 19q13.33 19q13.33 608826 CGB7, CGB6 Chorionic gonadotropin, beta polypeptide 7 CGB7 94027 ENSG00000196337 Lhb (MGI:96782) -chr19 49058283 49065075 19q13.3 19q13.33 162662 NTF4 , NTF5, NT5, NT4, GLC1O Neurotrophin-4 (neurotrophin-4/5) NTF4 4909 ENSG00000225950 3 genes, ? functional, also on 19 Glaucoma 1, open angle, 1O, 613100 (3) Ntf5 (MGI:97381) -chr19 49067396 49072698 19q13.3 19q13.33 176268 KCNA7 Potassium voltage-gated channel, shaker-related subfamily, member 7 KCNA7 3743 ENSG00000104848 Kcna7 (MGI:96664) -chr19 49085450 49108605 19q13.3 19q13.33 180740 SNRP70, U1RNP, RNPU1Z, RPU1 Small nuclear ribonucleoprotein, U1 subunit, 70kD SNRNP70 6625 ENSG00000104852 Snrnp70 (MGI:98341) -chr19 49114338 49118463 19q13.33 19q13.33 612331 LIN7B, VELI2, MALS2 Lin7, C. elegans, homolog of, B LIN7B 64130 ENSG00000104863 Lin7b (MGI:1330858) -chr19 49119388 49151029 19q13.33 19q13.33 603144 PPFIA3, LPNA3 Protein tyrosine phosphatase, receptor type, f polypeptide (liprin-alpha-3) PPFIA3 8541 ENSG00000177380 Ppfia3 (MGI:1924037) -chr19 49151197 49155463 19q13.3 19q13.33 142705 HRC Histidine-rich calcium-binding protein HRC 3270 ENSG00000130528 Hrc (MGI:96226) -chr19 49157791 49211840 19q13.32 19q13.33 606936 TRPM4, PFHB1B, EKVP6 Transient receptor potential cation channel, subfamily M, member 4 TRPM4 54795 ENSG00000130529 Progressive familial heart block, type IB, 604559 (3), Autosomal dominant; Erythrokeratodermia veriabilis et progressiva 6, 618531 (3), Autosomal dominant Trpm4 (MGI:1915917) -chr19 49289631 49332319 19q13.33 19q13.33 607972 SLC6A16, NT5 Solute carrier family 6 (neurotransmitter transporter), member 16 SLC6A16 28968 ENSG00000063127 Slc6a16 (MGI:2685930) -chr19 49334960 49340607 19p13-q13.4 19q13.33 151523 CD37 Leukocyte surface antigen CD37 CD37 951 ENSG00000104894 Cd37 (MGI:88330) -chr19 49340594 49362451 19q13.3 19q13.33 601729 TEAD2, TEF4 TEA domain family member 2 TEAD2 8463 ENSG00000074219 Tead2 (MGI:104904) -chr19 49360519 49375131 19q13.33 19q13.33 605418 DKKL1, SGY1, SGY Dickkopf-like 1 DKKL1 27120 ENSG00000104901 Dkkl1 (MGI:1354963) -chr19 49388217 49418001 19q13.33 19q13.33 618125 CCDC155, KASH5 Coiled-coil domain-containing protein 155 KASH5 147872 ENSG00000161609 Kash5 (MGI:2687329) -chr19 49422418 49423440 19q13.33 19q13.33 608386 PTH2, TIP39 Parathyroid hormone 2 PTH2 113091 ENSG00000142538 Pth2 (MGI:2152297) -chr19 49423746 49428986 19q13.33 19q13.33 618696 GFY, GOOFY Golgi-associated olfactory signaling regulator GFY 100507003 ENSG00000261949 Gfy (MGI:2685427) -chr19 49429400 49441526 19q13 19q13.33 605208 SLC17A7, BNPI, VGLUT1 Solute carrier family 17, (sodium-dependent inorganic phosphate cotransporter), member 7 SLC17A7 57030 ENSG00000104888 Slc17a7 (MGI:1920211) -chr19 49446297 49452391 19q13.33 19q13.33 611480 PIH1D1, NOP17 PIH1 domain-containing protein 1 PIH1D1 55011 ENSG00000104872 Pih1d1 (MGI:1916095) -chr19 49453224 49471049 19q13.33 19q13.33 613358 ALDH16A1 Aldehyde dehydrogenase 16 family, member A1 ALDH16A1 126133 ENSG00000161618 Aldh16a1 (MGI:1916998) -chr19 49474171 49487036 19q13.33 19q13.33 600007 FLT3LG, FLG3L FMS-related tyrosine kinase 3 ligand FLT3LG 2323 ENSG00000090554 Flt3l (MGI:95560) -chr19 49487607 49492307 19q13.3 19q13.33 619225 RPL13A Ribosomal protein L13A RPL13A 23521 ENSG00000142541 Rpl13a (MGI:1351455) -chr19 49496433 49499707 19q13.3 19q13.33 180471 RPS11 Ribosomal protein S11 RPS11 6205 ENSG00000142534 Rps11 (MGI:1351329) -chr19 49500784 49500867 19q13.33 19q13.33 611114 MIR150, MIRN150 Micro RNA 150 MIR150 406942 ENSG00000207782 Mir150 (MGI:2676835) -chr19 49512660 49526427 19q13.3 19q13.33 601437 FCGRT Fc fragment of IgG receptor and transporter FCGRT 2217 ENSG00000104870 Fcgrt (MGI:103017) -chr19 49527578 49543637 19q13.33 19q13.33 619032 RCN3 Reticulocalbin 3 RCN3 57333 ENSG00000142552 Rcn3 (MGI:1277122) -chr19 49555467 49580555 19q13.33 19q13.33 616759 NOSIP Nitric oxide synthase-interacting protein NOSIP 51070 ENSG00000142546 Nosip (MGI:1913644) -chr19 49580616 49591007 19q13.33 19q13.33 604429 PRRG2, PRGP2 Proline-rich gamma-carboxyglutamic acid protein 2 PRRG2 5639 ENSG00000126460 Prrg2 (MGI:1929596) -chr19 49591176 49626438 19q13.33 19q13.33 616633 PRR12, KIAA1205 Proline-rich protein 12 PRR12 57479 ENSG00000126464 Prr12 (MGI:2679002) -chr19 49635291 49640142 19q13.3-qter 19q13.33 165090 RRAS Oncogene RRAS RRAS 6237 ENSG00000126458 Rras (MGI:98179) -chr19 49640480 49658641 19q13.3 19q13.33 617264 SCAF1 SR-related C-terminal domain-associated factor 1 SCAF1 58506 ENSG00000126461 Scaf1 (MGI:2141980) -chr19 49659571 49665856 19q13.3-q13.4 19q13.33 603734 IRF3, IIAE7 Interferon regulatory factor 3 IRF3 3661 ENSG00000126456 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3), Autosomal dominant Irf3 (MGI:1859179) -chr19 49664833 49673915 19q13.3 19q13.33 610837 BCL2L12 BCL2-like 12 BCL2L12 83596 ENSG00000126453 Bcl2l12 (MGI:1922986) -chr19 49676165 49688446 19q13 19q13.33 602950 PRMT1, HRMT1L2, IR1B4 Protein arginine methyltransferase 1 PRMT1 3276 ENSG00000126457 Prmt1 (MGI:107846) -chr19 49690671 49713730 19q13.33 19q13.33 608846 CPT1C, SPG73 Carnitine palmitoyltransferase IC CPT1C 126129 ENSG00000169169 mutation identified in 1 SPG73 family ?Spastic paraplegia 73, autosomal dominant, 616282 (3), Autosomal dominant Cpt1c (MGI:2446526) -chr19 49739752 49763327 19q13.33 19q13.33 608253 TSKS Testis-specific kinase substrate TSKS 60385 ENSG00000126467 Tsks (MGI:1347560) -chr19 49767000 49807113 19q13.3 19q13.33 601026 AP2A1, CLAPA1, ADTAA Adaptor-related protein complex 2, alpha 1 subunit AP2A1 160 ENSG00000196961 match to PAC AC006942 Ap2a1 (MGI:101921) -chr19 49806865 49817375 19q13 19q13.33 610622 FUZ, NTD Fuzzy planar cell polarity protein FUZ 80199 ENSG00000010361 {Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant Fuz (MGI:1917550) -chr19 49818288 49840383 19q13.3 19q13.33 610197 MED25, PTOV2, ARC92, BVSYS Mediator of RNA polymerase II transcription, subunit 25, S. cerevisiae, homolog of MED25 81857 ENSG00000104973 Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3), Autosomal recessive Med25 (MGI:1922863) -chr19 49848553 49860741 19q13.3-q13.4 19q13.33 610195 PTOV1, ACID2 PTOV1 extended AT-hook containg adaptor protein PTOV1 53635 ENSG00000104960 Ptov1 (MGI:1933946) -chr19 49861203 49867575 19q13.4 19q13.33 605610 PNKP, PNK, MCSZ, AOA4, CMT2B2 Polynucleotide kinase 3' phosphatase PNKP 11284 ENSG00000039650 mutation identified in 1 CMT2B2 family ?Charcot-Marie-Tooth disease, type 2B2, 605589 (3), Autosomal recessive; Ataxia-oculomotor apraxia 4, 616267 (3), Autosomal recessive; Microcephaly, seizures, and developmental delay, 613402 (3), Autosomal recessive Pnkp (MGI:1891698) -chr19 49869032 49878355 19q13.33 19q13.33 610221 AKT1S1, PRAS40 AKT1 substrate 1, proline-rich AKT1S1 84335 ENSG00000204673 Akt1s1 (MGI:1914855) -chr19 49877530 49888749 19q13.33 19q13.33 616659 TBC1D17 TBC1 domain family, member 17 TBC1D17 79735 ENSG00000104946 Tbc1d17 (MGI:2449973) -chr19 49889653 49929503 19q13.3-q13.4 19q13.33 609742 IL4I1, FIG1 Interleukin 4-induced gene 1 IL4I1 259307 ENSG00000104951 Il4i1b,Il4i1 (MGI:5439399,MGI:109552) -chr19 49906824 49929503 19q13.33 19q13.33 605815 NUP62, SNDI, IBSN Nucleoporin, 62-kD NUP62 23636 ENSG00000213024 Striatonigral degeneration, infantile, 271930 (3), Autosomal recessive Nup62 (MGI:1351500) -chr19 49928905 49933934 19q13.3 19q13.33 606398 ATF5, ATFX Activating transcription factor 5 ATF5 22809 ENSG00000169136 Atf5 (MGI:2141857) -chr19 49948824 49961171 19q13.3-q13.4 19q13.33 607157 SIGLEC11 Sialic acid-binding immunoglobulin-like lectin 11 SIGLEC11 114132 ENSG00000161640 pseudogene 8kb upstream Siglecg (MGI:2443630) -chr19 50026004 50048775 19q13.33 19q13.33 617908 ZNF473, ZFP100, KIAA1141 Zinc finger protein 473 ZNF473 25888 ENSG00000142528 Zfp473 (MGI:2442697) -chr19 50152547 50163280 19q13.33 19q13.33 618895 IZUMO2 IZUMO family, member 2 IZUMO2 126123 ENSG00000161652 Izumo2 (MGI:1922760) -chr19 50188185 50310539 19q13.33 19q13.33 608568 MYH14, KIAA2034, DFNA4A, PNMHH Myosin, heavy chain 14, nonmuscle MYH14 79784 ENSG00000105357 mutation identified in 1 PNMHH family ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3), Autosomal dominant; Deafness, autosomal dominant 4A, 600652 (3), Autosomal dominant Myh14 (MGI:1919210) -chr19 50311936 50333535 19q13.3-q13.4 19q13.33 176264 KCNC3, SCA13 Potassium voltage-gated channel, Shaw-related subfamily, member 3 KCNC3 3748 ENSG00000131398 Spinocerebellar ataxia 13, 605259 (3), Autosomal dominant Kcnc3 (MGI:96669) -chr19 50358471 50369330 19q13.33 19q13.33 605631 NAPA, NAP1, SNAPA Napsin A NAPSA 9476 ENSG00000131400 Napsa (MGI:109365) -chr19 50376456 50383387 19q13.3 19q13.33 600380 NR1H2, UNR Nuclear receptor subfamily 1, group H, member 2 (ubiquitously-expressed nuclear receptor) NR1H2 7376 ENSG00000131408 Nr1h2 (MGI:1352463) -chr19 50384290 50418017 19q13.3-q13.4 19q13.33 174761 POLD1, CRCS10, MDPL Polymerase (DNA directed), delta 1, catalytic subunit POLD1 5424 ENSG00000062822 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3), Autosomal dominant; {Colorectal cancer, susceptibility to, 10}, 612591 (3), Autosomal dominant Pold1 (MGI:97741) -chr19 50418937 50431313 19q13.3-q13.4 19q13.33 606802 SPIB SPIB transcription factor SPIB 6689 ENSG00000269404 Spib (MGI:892986) -chr19 50432891 50466320 19q13.33 19q13.33 160793 MYBPC2, MYBPCF Myosin-binding protein C, fast type MYBPC2 4606 ENSG00000086967 Mybpc2 (MGI:1336170) -chr19 50476482 50505904 19q13.33 19q13.33 614545 EMC10, C19orf63, HSS1, HSM1, NEDDFAS ER membrane protein complex subunit 10 EMC10 284361 ENSG00000161671 Neurodevelopmental disorder with dysmorphic facies and variable seizures, 619264 (3), Autosomal recessive Emc10 (MGI:1916933) -chr19 50505997 50511203 19q13.33 19q13.33 615324 JOSD2 Josephin domain-containing protein 2 JOSD2 126119 ENSG00000161677 Josd2 (MGI:1913374) -chr19 50621976 50639880 19q 19q13.33 600327 SYT3 Synaptotagmin-3 SYT3 84258 ENSG00000213023 Syt3 (MGI:99665) -chr19 50659254 50719801 19q13.33 19q13.33 604999 SHANK1, SSTRIP SH3 and multiple ankyrin repeat domains 1 SHANK1 50944 ENSG00000161681 Shank1 (MGI:3613677) -chr19 50723363 50725707 19q13.3 19q13.33 604713 CLEC11A, SCGF, LSLCL C-type lectin domain family 11, member A CLEC11A 6320 ENSG00000105472 Clec11a (MGI:1298219) -chr19 50770463 50771731 19q13.3 19q13.33 603195 GPR32 G protein-coupled receptor-32 GPR32 2854 ENSG00000142511 -chr19 50790414 50795218 19q13 19q13.33 606362 ACP4, ACPT, AI1J Acid phosphatase 4 ACP4 93650 ENSG00000142513 Amelogenesis imperfecta, type IJ, 617297 (3), Autosomal recessive Acp4 (MGI:3644563) -chr19 50797703 50804593 19q13 19q13.33 618864 C19orf48 Chromosome 19 open reading frame 48 C19orf48 84798 ENSG00000167747 2410002F23Rik (MGI:1914226) -chr19 50819145 50823786 19q13.4 19q13.33 147910 KLK1, KLKR Kallikrein 1 KLK1 3816 ENSG00000167748 ~10cM distal to APOC2 [Kallikrein, decreased urinary activity of], 615953 (3) Klk1b21,Klk1b9,Klk1b11,Klk1b22,Klk1b8,Klk1b5,Klk1,Klk1b26,Klk1b3,Klk1b24,Klk1b4,Klk1b1,Egfbp2,Klk1b27,Klk1b16 (MGI:95292,MGI:102850,MGI:95293,MGI:95291,MGI:892019,MGI:892018,MGI:97320,MGI:97322,MGI:892023,MGI:892022,MGI:892021,MGI:892020,MGI:891982,MGI:891980,MGI:891981) -chr19 50825288 50834336 19q13.4 19q13.33 610601 KLK15 Kallikrein-related peptidase 15 KLK15 55554 ENSG00000174562 Klk15 (MGI:2447533) -chr19 50854914 50860763 19q13.4 19q13.33 176820 KLK3, APS, PSA Kallikrein-related peptidase 3 KLK3 354 ENSG00000142515 probably with cluster KLK1, KLK2 Klk1b21,Klk1b9,Klk1b11,Klk1b22,Klk1b8,Klk1b5,Klk1,Klk1b26,Klk1b3,Klk1b24,Klk1b4,Klk1b1,Klk1b27,Klk1b16 (MGI:102850,MGI:95293,MGI:95291,MGI:892019,MGI:892018,MGI:97320,MGI:97322,MGI:892023,MGI:892022,MGI:892021,MGI:892020,MGI:891982,MGI:891980,MGI:891981) -chr19 50873438 50880566 19q13.4 19q13.33 147960 KLK2 Kallikrein-related peptidase 2 KLK2 3817 ENSG00000167751 12kb from APS Klk1b21,Klk1b9,Klk1b11,Klk1b22,Klk1b8,Klk1b5,Klk1,Klk1b26,Klk1b3,Klk1b24,Klk1b4,Klk1b1,Klk1b27,Klk1b16 (MGI:102850,MGI:95293,MGI:95291,MGI:892019,MGI:892018,MGI:97320,MGI:97322,MGI:892023,MGI:892022,MGI:892021,MGI:892020,MGI:891982,MGI:891980,MGI:891981) -chr19 50906350 50910744 19q13.4 19q13.41 603767 KLK4, EMSP1, PRSS17, AI2A1 Kallikrein-related peptidase 4 KLK4 9622 ENSG00000167749 Amelogenesis imperfecta, type IIA1, 204700 (3), Autosomal recessive Klk4 (MGI:1861379) -chr19 50943298 50953037 19q13.4 19q13.41 605643 KLK5, SCTE, KLKL2 Kallikrein-related peptidase 5 KLK5 25818 ENSG00000167754 Klk5 (MGI:1915918) -chr19 50958630 50969597 19q13.4 19q13.41 602652 KLK6, PRSS9, ZYME Kallikrein-related peptidase 6 KLK6 5653 ENSG00000167755 Klk6 (MGI:1343166) -chr19 50976467 50984063 19q13.41 19q13.41 604438 LKL7, PRSS6, SCCE Kallikrein-related peptidase 7 KLK7 5650 ENSG00000169035 Klk7 (MGI:1346336) -chr19 50996007 51001603 19q13.4 19q13.41 605644 KLK8, TADG14, PRSS19 Kallikrein-related peptidase 8 KLK8 11202 ENSG00000129455 Klk8 (MGI:1343327) -chr19 51002507 51009591 19q13.4 19q13.41 605504 KLK9, KLKL3 Kallikrein-related peptidase 9 KLK9 284366 ENSG00000213022 Klk9 (MGI:1921082) -chr19 51012738 51020096 19q13.4 19q13.41 602673 KLK10, PRSSL1, NES1 Kallikrein-related peptidase 10 KLK10 5655 ENSG00000129451 Klk10 (MGI:1916790) -chr19 51022230 51027990 19q13.4 19q13.41 604434 KLK11, PRSS20, TLSP Kallikrein-related peptidase 11 KLK11 11012 ENSG00000167757 Klk11 (MGI:1929977) -chr19 51028953 51035647 19q13.4 19q13.41 605539 KLK12, KLKL5 Kallikrein-related peptidase 12 KLK12 43849 ENSG00000186474 Klk12 (MGI:1916761) -chr19 51055625 51065105 19q13.4 19q13.41 605505 KLK13, KLKL4 Kallikrein-related peptidase 13 KLK13 26085 ENSG00000167759 Klk13 (MGI:3615275) -chr19 51077493 51084209 19q13.4 19q13.41 606135 KLK14 Kallikrein-related peptidase 14 KLK14 43847 ENSG00000129437 Klk14 (MGI:2447564) -chr19 51097605 51108408 19q13.33 19q13.41 612694 CTU1, ATPBD3 Cytothiouridylase subunit 1 CTU1 90353 ENSG00000142544 Ctu1 (MGI:2385277) -chr19 51124879 51140479 19q13.4 19q13.41 605640 SIGLEC9 Sialic acid-binding immunoglobulin-like lectin 9 SIGLEC9 27180 ENSG00000129450 Siglece (MGI:1932475) -chr19 51142259 51153525 19q13.3 19q13.41 604410 SIGLEC7, AIRM1 Sialic acid-binding immunoglobulin-like lectin 7 SIGLEC7 27036 ENSG00000168995 Siglece (MGI:1932475) -chr19 51211053 51240015 19q13.3-q13.4 19q13.41 159590 CD33 CD33 antigen (gp67) CD33 945 ENSG00000105383 Cd33 (MGI:99440) -chr19 51311643 51330890 19q13.41 19q13.41 618861 IGLON5 IGLON family, member 5 IGLON5 402665 ENSG00000142549 Iglon5 (MGI:2686277) -chr19 51331540 51342138 19q13.41 19q13.41 617740 VSIG10L V-set and immunoglobulin domains-containing protein 10-like VSIG10L 147645 ENSG00000186806 Vsig10l (MGI:1922940) -chr19 51345154 51366387 19q13.3 19q13.41 130410 ETFB, MADD Electron transfer flavoprotein, beta polypeptide ETFB 2109 ENSG00000105379 Glutaric acidemia IIB, 231680 (3), Autosomal recessive Etfb (MGI:106098) -chr19 51371615 51372687 19q13.41 19q13.41 606008 NKG7, GIG1 Natural killer cell group 7 sequence NKG7 4818 ENSG00000105374 Nkg7 (MGI:1931250) -chr19 51379908 51387973 19q13.4 19q13.41 154045 LIM2, MP19, CTRCT19 Lens intrinsic protein 2, 19kD LIM2 3982 ENSG00000105370 same cosmid as ETFB Cataract 19, multiple types, 615277 (3), Autosomal recessive Lim2 (MGI:104698) -chr19 51410019 51417641 19q13.4 19q13.41 606091 SIGLEC10 Sialic acid-binding immunoglobulin-like lectin 10 SIGLEC10 89790 ENSG00000142512 Siglecg (MGI:2443630) -chr19 51450996 51458453 19q13.33-q13.41 19q13.41 605639 SIGLEC8, SAF2, SIGLEC8L Sialic acid-binding immunoglobulin-like lectin 8 SIGLEC8 27181 ENSG00000105366 Siglece (MGI:1932475) -chr19 51491226 51501799 19q13.4 19q13.41 606094 SIGLEC12, SIGLECL1, S2V, SLG Sialic acid-binding immunoglobulin-like lectin 12 SIGLEC12 89858 ENSG00000254521 Siglece (MGI:1932475) -chr19 51517818 51531802 19q13.3 19q13.41 604405 SIGLEC6, CD33L, CD33L1, OBBP1 Sialic acid-binding immunoglobulin-like lectin 6 SIGLEC6 946 ENSG00000105492 Siglecf (MGI:2681107) -chr19 51571282 51592509 19q13.4 19q13.41 601139 ZNF175, OTK18 Zinc finger protein-175 ZNF175 7728 ENSG00000105497 Zfp715 (MGI:1917180) -chr19 51610959 51630427 19q13.3 19q13.41 604200 SIGLEC5, CD33L2, OBBP2 Sialic acid-binding Ig-like lectin 5 SIGLEC5 8778 ENSG00000268500 Siglecf (MGI:2681107) -chr19 51639477 51646851 19q13.14 19q13.41 618132 SIGLEC14 Sialic acid-binding immunoglobulin-like lectin 14 SIGLEC14 100049587 ENSG00000254415 Siglecf (MGI:2681107) -chr19 51685594 51713156 19q13.41 19q13.41 618945 SPACA6 Sperm acrosome-associated protein 6 SPACA6 147650 ENSG00000182310 Spaca6 (MGI:1922452) -chr19 51692611 51692680 19q13.41 19q13.41 614510 MIR99B Micro RNA 99B MIR99B 407056 ENSG00000207550 Mir99b (MGI:2676913) -chr19 51692785 51692863 19q13.41 19q13.41 611250 MIRLET7E, LET7E Micro RNA Let7e MIRLET7E 406887 ENSG00000198972 Mirlet7e (MGI:2676797) -chr19 51693253 51693338 19q13.33 19q13.41 611191 MIR125A, MIRN125A Micro RNA 125A MIR125A 406910 ENSG00000208008 Mir125a (MGI:2676809) -chr19 51713111 51723990 19q13.3-q13.4 19q13.41 601463 HAS1 Hyaluronan synthase 1 HAS1 3036 ENSG00000105509 Has1 (MGI:106590) -chr19 51745171 51751877 19q13.4 19q13.41 136537 FPR1 Formyl peptide receptor-1 FPR1 2357 ENSG00000171051 Fpr1 (MGI:107443) -chr19 51752025 51770530 19q13.3-q13.4 19q13.41 136538 FPR2, FPRL1, FPRH1, LXA4R, HM63 Formyl peptide receptor 2 FPR2 2358 ENSG00000171049 Fpr-rs4,Fpr-rs3,Fpr3,Fpr2,Fpr-rs6 (MGI:1194495,MGI:2448176,MGI:1278317,MGI:1278318,MGI:1278319) -chr19 51795156 51826206 19q13.3-q13.4 19q13.41 136539 FPR3, FPRL2, FPRH2 Formyl peptide receptor 3 FPR3 2359 ENSG00000187474 Fpr-rs4,Fpr-rs3,Fpr3,Fpr-rs7,Fpr-rs6 (MGI:1194495,MGI:2448176,MGI:1278317,MGI:1278318,MGI:2448177) -chr19 51889234 51905016 19q13.41 19q13.41 611903 ZNF649 Zinc finger protein 649 ZNF649 65251 ENSG00000198093 -chr19 51964339 51986855 19q13.41 19q13.41 605422 ZNF350, ZBRK1 Zinc finger protein 350 ZNF350 59348 ENSG00000256683 -chr19 52190051 52229517 19q13.4 19q13.41 605983 PPP2R1A, MRD36 Protein phosphatase 2, structural/regulatory subunit A, alpha PPP2R1A 5518 ENSG00000105568 Mental retardation, autosomal dominant 36, 616362 (3), Autosomal dominant Ppp2r1a (MGI:1926334) -chr19 52297168 52325926 19q13.41 19q13.41 613910 ZNF480 Zinc finger protein 480 ZNF480 147657 ENSG00000198464 -chr19 52392751 52418407 19q13.41 19q13.41 615580 ZNF528, KIAA1827 Zinc finger protein 528 ZNF528 84436 ENSG00000167555 -chr19 52596683 52600151 19q13.3-q13.4 19q13.41 604079 ZNF137 Zinc finger protein-137 ZNF137P 7696 -chr19 52612376 52690495 19q13.3-q13.4 19q13.41 194558 ZNF83 Zinc finger protein-83 ZNF83 55769 ENSG00000167766 Znf83 (MGI:5825588) -chr19 52838009 52857618 19q13.4 19q13.41 616841 ZNF468 Zinc finger protein 468 ZNF468 90333 ENSG00000204604 -chr19 52859490 52897726 19q13.3-q13.4 19q13.41 606427 ZNF320 Zinc finger protein 320 ZNF320 162967 ENSG00000182986 -chr19 53066613 53103421 19q13.3-q13.4 19q13.41-q13.42 600398 ZNF160 Zinc finger protein-160 ZNF160 90338 ENSG00000170949 Zfp160 (MGI:108187) -chr19 53503818 53580268 19q13.3-q13.4 19q13.42 606043 ZNF331, ZNF463 Zinc finger protein-331 ZNF331 55422 ENSG00000130844 -chr19 53601113 53637056 19q13.42 19q13.42 611165 DPRX Divergent-paired related homeobox DPRX 503834 ENSG00000204595 many pseudogenes -chr19 53707452 53707538 19q13.42 19q13.42 615908 MIR520C Micro RNA 520C MIR520C 574476 ENSG00000207738 -chr19 53713346 53713433 19q13.42 19q13.42 614247 MIR519D, MIRN519D Micro RNA 519D MIR519D 574480 ENSG00000207981 -chr19 53722165 53722254 19q13.42 19q13.42 616272 MIR520G Micro RNA 520G MIR520G 574484 ENSG00000207799 -chr19 53742511 53742598 19q13.42 19q13.42 614755 MIR520H Micro RNA 520H MIR520H 574493 ENSG00000207861 -chr19 53787674 53787740 19q13.41 19q13.42 612043 MIR371A Micro RNA 371A MIR371A 442916 ENSG00000199031 -chr19 53787889 53787955 19q13.41 19q13.42 612044 MIR372, MIRN372 Micro RNA 372 MIR372 442917 ENSG00000199095 -chr19 53788704 53788772 19q13.41 19q13.42 611954 MIR373, MIRN373 Micro RNA 373 MIR373 442918 ENSG00000199143 -chr19 53793583 53824402 19q13.4 19q13.42 609648 NLRP12, NALP12, PYPAF7, RNO, FCAS2 NLR family, pyrin domain containing 12 NLRP12 91662 ENSG00000142405 Familial cold autoinflammatory syndrome 2, 611762 (3), Autosomal dominant Nlrp12 (MGI:2676630) -chr19 53865627 53876434 19q13.33-q13.4 19q13.42 609959 MYADM Myeloid-associated differentiation marker MYADM 91663 ENSG00000179820 Myadm (MGI:1355332) -chr19 53882196 53907651 19q13.4 19q13.42 176980 PRKCG, PKCC, PKCG, SCA14 Protein kinase C, gamma polypeptide PRKCG 5582 ENSG00000126583 Spinocerebellar ataxia 14, 605361 (3), Autosomal dominant Prkcg (MGI:97597) -chr19 53909277 53943949 19q13.4 19q13.42 606899 CACNG7 Calcium channel, voltage-dependent, gamma-7 subunit CACNG7 59284 ENSG00000105605 Cacng7 (MGI:1932374) -chr19 53962936 53990214 19q13.4 19q13.42 606900 CACNG8 Calcium channel, voltage-dependent, gamma-8 subunit CACNG8 59283 ENSG00000142408 Cacng8 (MGI:1932376) -chr19 53991148 54012665 19q13.4 19q13.42 606898 CACNG6 Calcium channel, voltage-dependent, gamma-6 subunit CACNG6 59285 ENSG00000130433 Cacng6 (MGI:1859168) -chr19 54040824 54063965 19q13.4 19q13.42 616804 VSTM1, SIRL1 V-SET and transmembrane domains-containing protein 1 VSTM1 284415 ENSG00000189068 -chr19 54069894 54081364 19q13.4 19q13.42 616802 TARM1 T cell-interacting activating receptor on myeloid cells 1 TARM1 441864 ENSG00000248385 Tarm1 (MGI:2442280) -chr19 54094667 54100802 19q13.4 19q13.42 606862 OSCAR Osteoclast-associated receptor OSCAR 126014 ENSG00000170909 Oscar (MGI:2179720) -chr19 54102337 54107567 19q13.42 19q13.42 603832 NDUFA3 NADH-ubiquinone oxidoreductase subunit A3 NDUFA3 4696 ENSG00000170906 Ndufa3 (MGI:1913341) -chr19 54107019 54115656 19q13.42 19q13.42 609519 TFPT, FB1 TCF3 fusion partner TFPT 29844 ENSG00000105619 Tfpt (MGI:1916964) -chr19 54115705 54131718 19q13.4 19q13.42 606419 PRPF31, PRP31, RP11 Pre-mRNA processing factor 11 PRPF31 26121 ENSG00000105618 Retinitis pigmentosa 11, 600138 (3), Autosomal dominant Prpf31 (MGI:1916238) -chr19 54137688 54155689 19q13.4 19q13.42 604910 CNOT3, NOT3, IDDSADF CCR4-NOT transcription complex, subunit 3 CNOT3 4849 ENSG00000088038 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672 (3), Autosomal dominant Cnot3 (MGI:2385261) -chr19 54160094 54173217 19q13.42 19q13.42 617181 TMC4 Transmembrane channel-like protein 4 TMC4 147798 ENSG00000167608 Tmc4 (MGI:2669035) -chr19 54173413 54189631 19q13.4 19q13.42 606048 MBOAT7, BB1, LENG4, MRT57 Membrane bound O-acyltransferase domain containing 7 MBOAT7 79143 ENSG00000125505 Mental retardation, autosomal recessive 57, 617188 (3), Autosomal recessive Mboat7 (MGI:1924832) -chr19 54189969 54194531 19q13.4 19q13.42 608754 TSEN34, PCH2C, LENG5, SEN34 tRNA splicing endonuclease, subunit 34 TSEN34 79042 ENSG00000170892 mutation identified in 1 PCH2C patient ?Pontocerebellar hypoplasia type 2C, 612390 (3), Autosomal recessive Tsen34 (MGI:1913328) -chr19 54200556 54207646 19q13.4 19q13.42 603631 RPS9 Ribosomal protein S9 RPS9 6203 ENSG00000170889 Rps9 (MGI:1924096) -chr19 54216277 54223086 19q13.4 19q13.42 604820 LILRB3, LIR3, ILT5, HL9 Leukocyte immunoglobulin-like receptor, subfamily B, member 3 LILRB3 11025 ENSG00000204577 Pira2 (MGI:1195970) -chr19 54249420 54257291 19q13.2 19q13.42 604814 LILRB5, LIR8 Leukocyte immunoglobulin-like receptor, subfamily B, member 5 LILRB5 10990 ENSG00000105609 Pira2,Lilra6,Pira12,Pira13,Pirb (MGI:1195970,MGI:3705216,MGI:894311,MGI:3709645,MGI:1195969) -chr19 54273811 54281109 19q13.4 19q13.42 604815 LILRB2, LIR2, ILT4, MIR10 Leukocyte immunoglobulin-like receptor, subfamily B, member 2 LILRB2 10288 ENSG00000131042 Pira2,Pirb (MGI:1195970,MGI:894311) -chr19 54307069 54313165 19q13.4 19q13.42 606047 LILRA9, ILT11, CD85F, LIR9 Leukocyte immunoglobulin-like receptor, subfamily A, member 5 LILRA5 353514 ENSG00000187116 Lilra5 (MGI:3647196) -chr19 54333184 54339161 19q13.42 19q13.42 607517 LILRA4, ILT7 Leukocyte immunoglobulin-like receptor, subfamily A, member 4 LILRA4 23547 ENSG00000239961 Pira2 (MGI:1195970) -chr19 54351383 54370557 19q13.4 19q13.42 602992 LAIR1 Leukocyte-associated immunoglobulin-like receptor 1 LAIR1 3903 ENSG00000167613 Lair1 (MGI:105492) -chr19 54415463 54436903 19q13.4 19q13.42 605784 TTYH1 Tweety family member 1 TTYH1 57348 ENSG00000167614 Ttyh1 (MGI:1889007) -chr19 54447620 54462021 19q13.42 19q13.42 616575 LENG8, KIAA1932 Leukocyte receptor cluster gene 8 LENG8 114823 ENSG00000167615 Leng8 (MGI:2142195) -chr19 54465025 54473295 19q13.42 19q13.42 609171 CDC42EP5, CEP5, BORG3 CDC42 effector protein 5 CDC42EP5 148170 ENSG00000167617 Cdc42ep5 (MGI:1929745) -chr19 54502809 54510692 19q13.42 19q13.42 602993 LIAR2, CD306 Leukocyte-associated immunoglobulin-like receptor 2 LAIR2 3904 ENSG00000167618 Lair1 (MGI:105492) -chr19 54572987 54590286 19q13.4 19q13.42 604812 LILRA2, LIR7, ILT1 Leukocyte immunoglobulin-like receptor, subfamily A, member 2 LILRA2 11027 ENSG00000239998 Pira2,Pirb (MGI:1195970,MGI:894311) -chr19 54593631 54602380 19q13.2 19q13.42 604810 LILRA1, LIR6 Leukocyte immunoglobulin-like receptor, subfamily A, member 1 LILRA1 11024 ENSG00000104974 Pira2,Pirb (MGI:1195970,MGI:894311) -chr19 54616321 54638021 19q13.4 19q13.42 604811 LILRB1, LIR1, ILT2, MIR7, CD85 Leukocyte immunoglobulin-like receptor, subfamily B, member 1 LILRB1 10859 ENSG00000104972 Pira2,Pirb (MGI:1195970,MGI:894311) -chr19 54662523 54668717 19q13.4 19q13.42 604821 LILRB4, LIR5, ILT3, HM18 Leukocyte immunoglobulin-like receptor, subfamily B, member 4 LILRB4 11006 ENSG00000186818 Lilrb4b,Lilrb4a (MGI:102701,MGI:102702) -chr19 54724441 54736631 19q13.4 19q13.42 610095 KIR3KL3, KIRC1, KIR3DL7, KIR44 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 KIR3DL3 115653 ENSG00000242019 Kir3dl1 (MGI:2652397) -chr19 54738512 54753051 19q13.4 19q13.42 604938 KIR2DL3, NKAT2 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 KIR2DL3 3804 ENSG00000243772 Kir3dl2 (MGI:3612791) -chr19 54769207 54784325 19q13.4 19q13.42 604936 KIR2DL1, NKAT1 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 KIR2DL1 3802 ENSG00000125498 Kir3dl2 (MGI:3612791) -chr19 54786361 54790417 19q13.4 19q13.42 610604 KIR3DP1, CD158C, KIRX, KIR48, KIR2DS6 Killer cell immunoglobulin-like receptor, three domains, pseudogene KIR3DP1 548594 ENSG00000264257 functional in some individuals -chr19 54803609 54814516 19q13.4 19q13.42 604945 KIR2DL4, KIR103AS Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 KIR2DL4 3805 ENSG00000189013 Kir3dl2 (MGI:3612791) -chr19 54816437 54830777 19q13.4 19q13.42 604946 KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 KIR3DL1 3811 ENSG00000167633 {AIDS, delayed/rapid progression to}, 609423 (3) Kir3dl2 (MGI:3612791) -chr19 54832706 54848574 19q13.4 19q13.42 604955 KIR2DS4, NKAT8 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 KIR2DS4 3809 ENSG00000221957 Kir3dl2 (MGI:3612791) -chr19 54850319 54867208 19q13.4 19q13.42 604947 KIR3DL2, NKAT4 Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 KIR3DL2 3812 ENSG00000240403 Kir3dl2 (MGI:3612791) -chr19 54874230 54891419 19q13.4 19q13.42 147045 FCAR Fc fragment of IgA, receptor for FCAR 2204 ENSG00000186431 -chr19 54906062 54938210 19q13.42 19q13.42 604530 NCR1, LY94, NKP46 Natural cytotoxicity triggering receptor 1 (lymphocyte antigen 94, mouse, homolog of) NCR1 9437 ENSG00000189430 Ncr1 (MGI:1336212) -chr19 54923508 54965183 19q13.4 19q13.42 609661 NALP7, NOD12, PYPAF3, HYDM NACHT domain-, leucine-rich repeat-, and PYD-containing protein 7 NLRP7 199713 ENSG00000167634 Hydatidiform mole, recurrent, 1, 231090 (3), Autosomal recessive Nlrp2 (MGI:3041206) -chr19 54965283 55001137 19q13.4 19q13.42 609364 NALP2, PAN1, PYPAF2 NACHT-, leucine-rich repeat-, and PYD-containing 2 NLRP2 55655 ENSG00000022556 Nlrp2 (MGI:3041206) -chr19 55013704 55038263 19q13.4 19q13.42 605546 GP6, GPIV, BDPLT11 Glycoprotein VI, platelet GP6 51206 ENSG00000088053 Bleeding disorder, platelet-type, 11, 614201 (3), Autosomal recessive Gp6 (MGI:1889810) -chr19 55075868 55087922 19q13.4 19q13.42 614987 EPS8L1, EPS8R1 EPS8-like protein 1 EPS8L1 54869 ENSG00000131037 Eps8l1 (MGI:1914675) -chr19 55090912 55117636 19q13.3-q13.4 19q13.42 613245 PPP1R12C, MBS85 Protein phosphatase 1, regulatory subunit 12C PPP1R12C 54776 ENSG00000125503 Ppp1r12c (MGI:1924258) -chr19 55132697 55149331 19q13.4 19q13.42 191041 TNNT1, ANM, NEM5 Troponin-T1, skeletal, slow TNNT1 7138 ENSG00000105048 Nemaline myopathy 5, Amish type, 605355 (3), Autosomal recessive Tnnt1 (MGI:1333868) -chr19 55151766 55157731 19q13.4 19q13.42 191044 TNNI3, CMH7, CMD2A, RCM1, CMD1FF Troponin-I, cardiac TNNI3 7137 ENSG00000129991 mutation identified in 1 CMD2A family ?Cardiomyopathy, dilated, 2A, 611880 (3), Autosomal recessive; Cardiomyopathy, hypertrophic, 7, 613690 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 1, 115210 (3), Autosomal dominant; Cardiomyopathy, dilated, 1FF, 613286 (3) Tnni3 (MGI:98783) -chr19 55158660 55166721 19q13.4 19q13.42 614566 DNAAF3, PF22, DAB1, CILD2 Dynein, axonemal, assembly factor 3 DNAAF3 352909 ENSG00000167646 Ciliary dyskinesia, primary, 2, 606763 (3), Autosomal recessive Dnaaf3 (MGI:3588207) -chr19 55171195 55180440 19q13.42 19q13.42 600782 SYT5 Synaptotagmin-5 SYT5 6861 ENSG00000129990 Syt5 (MGI:1926368) -chr19 55181246 55209505 19q13.4 19q13.42 602510 PTPRH Protein tyrosine phosphatase, receptor type, H PTPRH 5794 ENSG00000080031 Ptprh (MGI:3026877) -chr19 55226637 55228762 19q13.42 19q13.42 617806 TMEM86B Transmembrane protein 86B TMEM86B 255043 ENSG00000180089 Tmem86b (MGI:1915505) -chr19 55229778 55259016 19q13.42 19q13.42 610875 SAPS1, PP6R1, KIAA1115 SAPS domain family, member 1 PPP6R1 22870 ENSG00000105063 Ppp6r1 (MGI:2442163) -chr19 55262222 55280422 19q13.42 19q13.42 612939 HSPBP1 Heat-shock 70kD protein-binding protein 1 HSPBP1 23640 ENSG00000133265 Hspbp1 (MGI:1913495) -chr19 55283996 55312561 19q13.4 19q13.42 609235 BRSK1, KIAA1811 BR serine/threonine kinase 1 BRSK1 84446 ENSG00000160469 Brsk1 (MGI:2685946) -chr19 55308868 55334042 19q13.42 19q13.42 617291 TMEM150B, DRAM3, TTN2, TMEM224 Transmembrane protein 150B TMEM150B 284417 ENSG00000180061 Tmem150b (MGI:2679718) -chr19 55339875 55348120 19q13.42 19q13.42 613198 SUV420H2 Suppressor of variegation 4-20, Drosophila, homolog of, 2 KMT5C 84787 ENSG00000133247 Kmt5c (MGI:2385262) -chr19 55349703 55354718 19q13.4 19q13.42 618127 COX6B2, CT59 Cytochrome c oxidase, subunit 6B2 COX6B2 125965 ENSG00000160471 Cox6b2 (MGI:3044182) -chr19 55364381 55370462 19q13.3-q13.4 19q13.42 147681 IL11 Interleukin-11 IL11 3589 ENSG00000095752 Il11 (MGI:107613) -chr19 55385931 55403341 19q13.4 19q13.42 603638 RPL28 Ribosomal protein L28 RPL28 6158 ENSG00000108107 Rpl28 (MGI:101839) -chr19 55399744 55408438 19q13.42 19q13.42 610309 UBE2S, EPF5, E2EPF Ubiquitin-conjugating enzyme E2S UBE2S 27338 ENSG00000108106 Ube2s (MGI:1925141) -chr19 55428739 55443299 19q13.42 19q13.42 617328 SHISA7 Shisa family, member 7 SHISA7 729956 ENSG00000187902 Shisa7 (MGI:3605641) -chr19 55452984 55461641 19q13.42 19q13.42 612928 ISOC2 Isochorismatase domain-containing 2 ISOC2 79763 ENSG00000063241 Isoc2b,Isoc2a (MGI:3609243,MGI:1914691) -chr19 55476602 55484486 19q13.4 19q13.42 610671 ZNF628, ZEC Zinc finger protein 628 ZNF628 89887 ENSG00000197483 Zfp628 (MGI:2665174) -chr19 55488435 55519098 19q13.4 19q13.42 618194 SSC5D Scavenger receptor cysteine-rich family member with 5 domains SSC5D 284297 ENSG00000179954 Ssc5d (MGI:3606211) -chr19 55591375 55599702 19q13.42 19q13.42 609133 FIZ1, FLJ14768 FLT3-interacting zinc finger protein 1 FIZ1 84922 ENSG00000179943 Fiz1 (MGI:1344336) -chr19 55641001 55643469 19q13.42 19q13.42 617888 ZNF580 Zinc finger protein 580 ZNF580 51157 ENSG00000213015 Zfp580 (MGI:1916242) -chr19 55647399 55653160 19q13.42 19q13.42 613478 CCDC106 Coiled-coil domain-containing protein 106 CCDC106 29903 ENSG00000173581 Ccdc106 (MGI:2385900) -chr19 55654131 55674715 19q13.42 19q13.42 191318 U2AF2, U2AF65 U2 small nuclear RNA auxiliary factor 2 U2AF2 11338 ENSG00000063244 U2af2 (MGI:98886) -chr19 55675225 55709532 19q13 19q13.42 607262 EPN1 Epsin 1 EPN1 29924 ENSG00000063245 Epn1 (MGI:1333763) -chr19 55708437 55738401 19q13.4 19q13.42 609663 NALP9, NOD6 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 9 NLRP9 338321 ENSG00000185792 Nlrp9b,Nlrp9a,Nlrp9c (MGI:2675292,MGI:2675377,MGI:3028627) -chr19 55757297 55763420 19q13.4 19q13.42 612601 RFPL4A, RNF210 Ret finger protein-like 4A RFPL4A 342931 ENSG00000223638 Rfpl4 (MGI:2149590) -chr19 55785398 55836574 19q13.4 19q13.42-q13.43 609664 NALP11, PYPAF7, NOD17 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 11 NLRP11 204801 ENSG00000179873 -chr19 55800000 58617616 19q13 100070 AAA1, AAA Aortic aneurysm, familial abdominal 1 100329167 near D19S416 Aortic aneurysm, familial abdominal 1, 100070 (2), Autosomal dominant -chr19 55800000 58617616 19q13.4-qter 102699 AAVS1 Adeno-associated virus integration site-1 AAVS1 17 -chr19 55800000 58617616 19q13 608542 ANIB2 Aneurysm, intracranial berry, 2 449013 between D19S245 and D19S246 Aneurysm, intracranial berry, 2, 608542 (2) -chr19 55800000 58617616 19q13 609376 CTRCT35, CATCN1 Cataract 35 619404 max lod at D19S416 Cataract 35, congenital nuclear, 609376 (2), Autosomal recessive -chr19 55800000 58617616 19q13 611907 EA7 Episodic ataxia, type 7 100188859 between rs1366444 and rs952108 Episodic ataxia, type 7, 611907 (2), Autosomal dominant -chr19 55800000 58617616 19q13.4 611959 HPC15 Prostate cancer, hereditary, 15 100188868 associated with rs2735839 {Prostate cancer, hereditary, 15}, 611959 (2) -chr19 55800000 58617616 19q13.4 604937 KIR2DL2, NKAT6 Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 KIR2DL2 3803 -chr19 55800000 58617616 19q13.4 615727 KIR2DL5B Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B KIR2DL5B 553128 -chr19 55800000 58617616 19q13.4 604952 KIR2DS1 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 KIR2DS1 3806 -chr19 55800000 58617616 19q13.4 604953 KIR2DS2, NKAT5 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 KIR2DS2 100132285 -chr19 55800000 58617616 19q13.4 604954 KIR2DS3, NKAT7 Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 KIR2DS3 3808 -chr19 55800000 58617616 19q13.4 604956 KIR2DS5, NKAT9, CD158G Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 KIR2DS5 3810 -chr19 55800000 58617616 19q13.4 604818 LILRA3, LIR4, ILT6, HM43 Leukocyte immunoglobulin-like receptor, subfamily A, member 3 LILRA3 11026 -chr19 55800000 58617616 19q13.4 612884 MENOQ2 Menopause, natural, age at, QTL2 100302517 associated with rs1172822, rs2384687, rs1551562, rs897798 {Menopause, natural, age at, QTL2}, 612884 (2) -chr19 55800000 58617616 19q13 600757 OFC3 Orofacial cleft 3 4965 ?role of BCL3 Orofacial cleft 3, 600757 (2), ?Autosomal dominant -chr19 55800000 58617616 19q13 614746 UAQTL5 Uric acid concentration, serum, quantitative trait locus 5 100996934 associated with rs150414818 [Uric acid concentration, serum, QTL5], 614746 (2) -chr19 55836539 55881854 19q13.4 19q13.43 609645 NALP4, PAN2, PYPAF4 NACHT domain-, leucine-rich repeat-c and PYD-containing protein 4 NLRP4 147945 ENSG00000160505 Nlrp4a,Nlrp4c,Nlrp4b,Nlrp4e,Nlrp4f (MGI:2443697,MGI:3056600,MGI:1890518,MGI:2145528,MGI:3056570) -chr19 55891691 55932335 19q13.4 19q13.43 609660 NALP13, NOD14 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 13 NLRP13 126204 ENSG00000173572 -chr19 55947831 55988628 19q13.4 19q13.43 609659 NALP8, NOD16, PAN4 NACHT domain-, leucine-rich repeat-, and PYD-containing protein 8 NLRP8 126205 ENSG00000179709 -chr19 55999725 56061809 19q13 19q13.43 609658 NALP5, MATER NACHT domain-, leucine-rich repeat-, and PYD-containing protein 5 NLRP5 126206 ENSG00000171487 Nlrp5 (MGI:1345193) -chr19 56132508 56160892 19q13.43 19q13.43 607874 ZNF444, EZF2 Zinc finger protein 444 ZNF444 55311 ENSG00000167685 Zfp444 (MGI:1923365) -chr19 56176007 56185774 19q13.4 19q13.43 611178 GALP, ALARIN Galanin-like peptide (GALP precursor protein) GALP 85569 ENSG00000197487 Galp (MGI:2663979) -chr19 56382750 56393584 19q13.43 19q13.43 615600 ZNF582 Zinc finger protein 582 ZNF582 147948 ENSG00000018869 -chr19 56438511 56478064 19q13.4 19q13.43 611024 ZNF667, MIPU1 Zinc finger protein 667 ZNF667 63934 ENSG00000198046 Zfp667 (MGI:2442757) -chr19 56536789 56559191 19q13.4 19q13.43 616798 ZFP28 Zinc finger protein 28 ZFP28 140612 ENSG00000196867 Zfp28 (MGI:99175) -chr19 56595301 56624485 19q13.4 19q13.43 194545 ZNF71 Zinc finger protein-71 (Cos26) ZNF71 58491 ENSG00000197951 previously assigned to 22q11.2 -chr19 56810081 56840725 19q13.4 19q13.43 601483 PEG3 Paternally expressed gene 3 PEG3 5178 ENSG00000198300 Peg3 (MGI:104748) -chr19 57119086 57131982 19q13.43 19q13.43 609546 USP29 Ubiquitin-specific protease 29 USP29 57663 ENSG00000131864 Usp29 (MGI:1888998) -chr19 57154020 57167484 19q13.43 19q13.43 611168 DUXA Double homeobox A DUXA 503835 ENSG00000258873 many pseudogenes -chr19 57191499 57222845 19q13.4 19q13.43 604668 ZNF264 Zinc finger protein-264 ZNF264 9422 ENSG00000083844 -chr19 57230316 57235549 19q13.43 19q13.43 603495 AURKC, STK13, AIE2, SPGF5 Aurora kinase C AURKC 6795 ENSG00000105146 Spermatogenic failure 5, 243060 (3), Autosomal recessive Aurkc-ps,Aurkc (MGI:3644835,MGI:1321119) -chr19 57279981 57294068 19q13.4 19q13.43 604755 ZNF272, HZF8, ZNF460 Zinc finger protein-272 ZNF460 10794 ENSG00000197714 -chr19 57320471 57330769 19q13.43 19q13.43 616847 ZNF543 Zinc finger protein 543 ZNF543 125919 ENSG00000178229 -chr19 57351252 57359897 19q13.43 19q13.43 613840 ZNF304 Zinc finger protein 304 ZNF304 57343 ENSG00000131845 -chr19 57411160 57421933 19q13.43 19q13.43 619254 ZNF17, KOX10, KIAA1947 Zinc finger protein 17 ZNF17 7565 ENSG00000186272 -chr19 57454789 57457139 19q13.4 19q13.43 605234 VN1R1, V1RL1 Vomeronasal 1 receptor 1 VN1R1 57191 ENSG00000178201 -chr19 57487719 57496097 19q13.43 19q13.43 617410 ZNF419 Zinc finger protein 419 ZNF419 79744 ENSG00000105136 Zfp954,Zfp772 (MGI:2385265,MGI:1917764) -chr19 57614241 57624723 19q13.4 19q13.43 604076 ZNF134 Zinc finger protein-134 ZNF134 7693 ENSG00000213762 -chr19 57633167 57644040 19q13.4 19q13.43 601856 ZNFC25 Zinc finger protein-C2H2-25 ZNF211 10520 ENSG00000121417 -chr19 57651475 57679151 19q13.43 19q13.43 613419 ZSCAN4, ZNF494 Zinc finger- and SCAN domain-containing protein 4 ZSCAN4 201516 ENSG00000180532 Zscan4f,Zscan4c,Zscan4d,Zscan4b (MGI:3645954,MGI:3645447,MGI:3708485,MGI:2685243) -chr19 57696274 57709203 19q13.4 19q13.43 604085 ZNF154 Zinc finger protein-154 ZNF154 7710 ENSG00000179909 -chr19 57940832 57947705 19q13 19q13.43 606956 ZNF256 Zinc finger protein 256 ZNF256 10172 ENSG00000152454 -chr19 57977052 58003345 19q13.4 19q13.43 613905 ZNF606, ZNF328, KIAA1852 Zinc finger protein 606 ZNF606 80095 ENSG00000166704 Zfp606 (MGI:1914620) -chr19 58059226 58069754 19q13.4 19q13.43 604077 ZNF135 Zinc finger protein-135 ZNF135 7694 ENSG00000176293 -chr19 58183060 58213561 19q13.4 19q13.43 605467 ZNF274 Zinc finger protein-274 ZNF274 10782 ENSG00000171606 Zfp369,Zfp110 (MGI:1890378,MGI:2176229) -chr19 58278954 58302790 19q13.43 19q13.43 194532 ZNF8 Zinc finger protein-8 ZNF8 7554 ENSG00000278129 previously assigned to 20q13 Zfp128 (MGI:2389445) -chr19 58326993 58342335 19q13.43 19q13.43 165260 ZSCAN22, HKR2 Zinc finger- and SCAN domain-containing protein 22 ZSCAN22 342945 ENSG00000182318 Zscan22 (MGI:2443312) -chr19 58345182 58353491 19cen-q13.2 19q13.43 138670 A1BG Glycoprotein, alpha-1B A1BG 1 ENSG00000121410 order: C3-SE-LU-A1BG A1bg (MGI:2152878) -chr19 58387268 58394803 19q13.4 19q13.43 603630 RPS5 Ribosomal protein S5 RPS5 6193 ENSG00000083845 Rps5 (MGI:1097682) -chr19 58432813 58440152 19q13.4 19q13.43 604074 ZNF132 Zinc finger protein-132 ZNF132 7691 ENSG00000131849 -chr19 58467079 58475435 19q13.43 19q13.43 617477 ZNF324, ZF5128 Zinc finger protein 324 ZNF324 25799 ENSG00000083812 Zfp324 (MGI:2444641) -chr19 58498332 58512027 19q13.43 19q13.43 603314 SLC27A5, FATP5, VLACSR, VLCSH2 Solute carrier family 27 (fatty acid transporter), member 5 SLC27A5 10998 ENSG00000083807 Slc27a5 (MGI:1347100) -chr19 58544063 58550721 19q13.4 19q13.43 601742 TRIM28, KAP1, TIF1B Tripartite motif-containing protein 28 TRIM28 10155 ENSG00000130726 Trim28 (MGI:109274) -chr19 58551565 58555623 19q 19q13.43 610893 CHMP2A, VPS2A, VPS2, BC2 Charged multivesicular body protein 2A CHMP2A 27243 ENSG00000130724 Chmp2a (MGI:1916203) -chr19 58555711 58558610 19q13.43 19q13.43 603173 UBE2M, UBC12 Ubiquitin-conjugating enzyme E2M UBE2M 9040 ENSG00000130725 Ube2m (MGI:108278) -chr19 58561920 58574477 19q13.43 19q13.43 194550 MZF1, ZNF42 Myeloid zinc finger 1 MZF1 7593 ENSG00000099326 Mzf1 (MGI:107457) -chr19 0 58617616 Chr.19 603979 ZNF97 Zinc finger protein-97 -chr20 0 28100000 20p 607116 AD8 Alzheimer disease 8 353128 ?related to CST3 Alzheimer disease 8, 607116 (2) -chr20 0 5100000 20p13 608031 ALS7 Amyotrophic lateral sclerosis 7 406238 max lod at D20S103 Amyotrophic lateral sclerosis 7, 608031 (2) -chr20 0 28100000 20p 605804 ATOD3 Dermatitis, atopic, 3 117187 max lod at D20S115 {Dermatitis, atopic, susceptibility to, 3}, 605804 (2) -chr20 0 25700000 20pter-p11.2 608559 BMIQ6 Body mass index quantitative trait locus 6 449017 near D20S482 and D20S851 [Body mass index QTL6], 608559 (2) -chr20 0 5100000 20p13 611242 RLS5 Restless legs syndrome, susceptibility to, 5 100188839 max lod at D20S849 {Restless legs syndrome 5}, 611242 (2) -chr20 297569 300320 20p13 20p13 618326 ZCCHC3 Zinc finger CCHC domain-containing protein 3 ZCCHC3 85364 ENSG00000247315 Zcchc3 (MGI:1915167) -chr20 325551 330223 20p13 20p13 601947 SOX12, SOX22 SRY (sex-determining region Y)-box 12 SOX12 6666 ENSG00000177732 Sox12 (MGI:98360) -chr20 346774 359704 20p13 20p13 610666 NRSN2 Neurensin 2 NRSN2 80023 ENSG00000125841 Nrsn2 (MGI:2684969) -chr20 380759 397558 20p13 20p13 607898 TRIB3, NIPK, SINK, C20orf97, SKIP3 Tribbles pseudokinase 3 TRIB3 57761 ENSG00000101255 Trib3 (MGI:1345675) -chr20 408298 432138 20p13 20p13 610924 RBCK1, HOIL1, PGBM1, PBMEI, C20orf18 RANBP-type and C3HC4-type zinc finger-containing 1 RBCK1 10616 ENSG00000125826 Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3), Autosomal recessive Rbck1 (MGI:1344372) -chr20 435479 462542 20p13 20p13 611663 TBC1D20, C20orf140, WARBM4 TBC1 domain family, member 20 TBC1D20 128637 ENSG00000125875 Warburg micro syndrome 4, 615663 (3), Autosomal recessive Tbc1d20 (MGI:1914481) -chr20 472497 543789 20p13 20p13 115440 CSNK2A1, CK2A1, OCNDS Casein kinase-2, alpha-1 polypeptide CSNK2A1 1457 ENSG00000101266 pseudogene on 11p15 Okur-Chung neurodevelopmental syndrome, 617062 (3), Autosomal dominant Csnk2a1 (MGI:88543) -chr20 604256 610308 20p13 20p13 601010 TCF15 Transcription factor-15 (basic helix-loop-helix) TCF15 6939 ENSG00000125878 Tcf15 (MGI:104664) -chr20 646614 653199 20p13 20p13 617583 SRXN1, SRX Sulfiredoxin 1 SRXN1 140809 ENSG00000271303 Srxn1 (MGI:104971) -chr20 760079 775984 20p13 20p13 613350 SLC52A3, C20orf54, RFT2, BVVLS1 Solute carrier family 52, riboflavin transporter, member 3 SLC52A3 113278 ENSG00000101276 mutation identified in 1 FZLD family ?Fazio-Londe disease, 211500 (3), Autosomal recessive; Brown-Vialetto-Van Laere syndrome 1, 211530 (3), Autosomal recessive Slc52a3 (MGI:1916948) -chr20 833714 846278 20p13 20p13 611393 FAM110A, C20orf55 Family with sequence similarity 110, member A FAM110A 83541 ENSG00000125898 Fam110a (MGI:1921097) -chr20 869899 916367 20p13 20p13 603705 ANGPT4, ANG4 Angiopoietin 4 ANGPT4 51378 ENSG00000101280 no ANGT3 in human Angpt4 (MGI:1336887) -chr20 958451 1002310 20p13 20p13 610573 RSPO4, CRISTIN4 R-spondin member 4 RSPO4 343637 ENSG00000101282 Anonychia congenita, 206800 (3), Autosomal recessive Rspo4 (MGI:1924467) -chr20 1113262 1172245 20p13 20p13 617858 PSMF1, PI31 Proteasome inhibitor subunit 1 PSMF1 9491 ENSG00000125818 Psmf1 (MGI:1346072) -chr20 1266291 1309326 20p13 20p13 604942 SNPH Syntaphilin SNPH 9751 ENSG00000101298 Snph (MGI:2139270) -chr20 1309908 1329138 20p13 20p13 617358 SDCBP2, SITAC, ST2, SITAC18 Syndecan-binding protein 2 SDCBP2 27111 ENSG00000125775 Sdcbp2 (MGI:2385156) -chr20 1368976 1393171 20p13 20p13 186945 FKBP1A, FKBP12 FK506-binding protein-1A, 12kD FKBP1A 2280 ENSG00000088832 Fkbp1a (MGI:95541) -chr20 1442165 1467792 20p 20p13 606610 P47 p47, rat, homolog of NSFL1C 55968 ENSG00000088833 Nsfl1c (MGI:3042273) -chr20 1561384 1620446 20p13 20p13 603889 SIRPB1 Signal regulatory protein, beta-1 SIRPB1 10326 ENSG00000101307 Sirpb1a,Sirpa (MGI:2444824,MGI:108563) -chr20 1629151 1686515 20p13 20p13 605466 SIRPG, SIRPB2 Signal regulatory protein, gamma SIRPG 55423 ENSG00000089012 Sirpa (MGI:108563) -chr20 1894166 1940591 20p13 20p13 602461 SHPS1 SHP substrate-1 SIRPA 140885 ENSG00000198053 Sirpa (MGI:108563) -chr20 1978755 1994284 20p13 20p13 131340 PDYN, SCA23 Prodynorphin PDYN 5173 ENSG00000101327 Spinocerebellar ataxia 23, 610245 (3), Autosomal dominant Pdyn (MGI:97535) -chr20 2098020 2148554 20p13 20p13 609370 STK35, CLIK1 Serine/threonine kinase 35 STK35 140901 ENSG00000125834 Stk35 (MGI:1914583) -chr20 2296000 2341078 20q12 20p13 600238 TGM3, UHS2 Transglutaminase-3 (E polypeptide, protein-glutamine-gamma-glutamyl transferase) TGM3 7053 ENSG00000125780 mutation identified in 1 UHS2 patient ?Uncombable hair syndrome 2, 617251 (3), Autosomal recessive Tgm3 (MGI:98732) -chr20 2380900 2432752 20p13-p12.2 20p13 613900 TGM6, TG6, TGY, SCA35 Transglutaminase 6 TGM6 343641 ENSG00000166948 Spinocerebellar ataxia 35, 613908 (3), Autosomal dominant Tgm6 (MGI:3044321) -chr20 2461641 2470788 20p13 20p13 182282 SNRPB, CCMS Small nuclear ribonucleoprotein polypeptides B and B1 SNRPB 6628 ENSG00000125835 Cerebrocostomandibular syndrome, 117650 (3), Autosomal dominant Snrpb (MGI:98342) -chr20 2536572 2643579 20p13 20p13 606707 TMC2 Transmembrane channel-like protein 2 TMC2 117532 ENSG00000149488 Tmc2 (MGI:2151017) -chr20 2652631 2658392 20p13 20p13 614154 NOP56, SCA36 Nop56, S. cerevisiae, homolog of NOP56 10528 ENSG00000101361 Spinocerebellar ataxia 36, 614153 (3), Autosomal dominant Nop56 (MGI:1914384) -chr20 2652776 2652841 20p13 20p13 614155 MIR1292, MIRN1292 Micro RNA 1292 MIR1292 100302138 ENSG00000284481 -chr20 2658393 2664215 20p13 20p13 604526 IDH3B, RP46 Isocitrate dehydrogenase 3, beta subunit IDH3B 3420 ENSG00000101365 Retinitis pigmentosa 46, 612572 (3), Autosomal recessive Idh3b (MGI:2158650) -chr20 2692779 2760107 20p13 20p13 609935 EBF4, KIAA1442 Early B-cell factor 4 EBF4 57593 ENSG00000088881 Ebf4 (MGI:2385972) -chr20 2794073 2800626 20p13 20p13 609555 CPXM1, CPX1 Carboxypeptidase X, M14 family, member 1 CPXM1 56265 ENSG00000088882 Cpxm1 (MGI:1934569) -chr20 2840744 2866731 20p13 20p13 608550 VPS16, DYT30 VPS16 core subunit of CORVET and HOPS complexes VPS16 64601 ENSG00000215305 Dystonia 30, 619291 (3), Autosomal dominant Vps16 (MGI:2136772) -chr20 2864183 3038668 20p13 20p13 176884 PTPRA, PTPA, PTPRL2, LRP Protein tyrosine phosphatase, receptor type, alpha polypeptide PTPRA 5786 ENSG00000132670 Ptpra (MGI:97808) -chr20 3039060 3045895 20p13 20p13 602352 GNRH2 Gonadotropin-releasing hormone-2 GNRH2 2797 ENSG00000125787 -chr20 3046051 3048249 20p13 20p13 611988 MRPS26, MRPS13 Mitochondrial ribosomal protein S26 MRPS26 64949 ENSG00000125901 Mrps26 (MGI:1333830) -chr20 3068870 3072516 20p13 20p13 167050 OXT Oxytocin-neurophysin I OXT 5020 ENSG00000101405 12kb from ARVP Oxt (MGI:97453) -chr20 3082555 3093520 20p13 20p13 192340 AVP, AVRP, VP Arginine vasopressin (neurophysin II, antidiuretic hormone) AVP 551 ENSG00000101200 distal 20p Diabetes insipidus, neurohypophyseal, 125700 (3), Autosomal dominant Avp (MGI:88121) -chr20 3146518 3159864 20p13 20p13 614272 FASTKD5 Fast kinase domain-containing protein 5 FASTKD5 60493 ENSG00000215251 Fastkd5 (MGI:2139469) -chr20 3162616 3173548 20p13 20p13 610484 PROSAPIP1, KIAA0552 Proline-rich synapse-associated protein-interacting protein 1 LZTS3 9762 ENSG00000088899 Lzts3 (MGI:2656976) -chr20 3190349 3204681 20p13 20p13 616177 DDRGK1, UFBP1, C20orf116, SEMDSH DDRGK domain-containing protein 1 DDRGK1 65992 ENSG00000198171 Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3), Autosomal recessive Ddrgk1 (MGI:1924256) -chr20 3208675 3227448 20p 20p13 147520 ITPA, DEE35 Inosine triphosphatase-A ITPA 3704 ENSG00000125877 [Inosine triphosphatase deficiency], 613850 (3); Developmental and epileptic encephalopathy 35, 616647 (3), Autosomal recessive Itpa (MGI:96622) -chr20 3227416 3241483 20p13-p12 20p13 610206 SLC4A11, BTR1, NABC1, CHED, CDPD, FECD4 Solute carrier family 4 (sodium borate cotransporter), member 11 SLC4A11 83959 ENSG00000088836 Corneal endothelial dystrophy, autosomal recessive, 217700 (3), Autosomal recessive; Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3), Autosomal recessive Slc4a11 (MGI:2138987) -chr20 3249301 3407668 20p13 20p13 614146 DNAAF9, C20orf194 Dynein, axonemal, assembly factor 9 DNAAF9 25943 ENSG00000088854 Dnaaf9 (MGI:1923029) -chr20 3471017 3651117 20p13 20p13 603130 ATRN, MGCA Attractin (mahogany, mouse, homolog of) ATRN 8455 ENSG00000088812 Atrn (MGI:1341628) -chr20 3659247 3663398 20p13 20p13 618679 GFRA4 GDNF family receptor alpha-4 GFRA4 64096 ENSG00000125861 Gfra4 (MGI:1341873) -chr20 3667972 3682107 20p13 20p13 607114 ADAM33 ADAM metallopeptidase domain 33 ADAM33 80332 ENSG00000149451 Adam33 (MGI:1341813) -chr20 3686969 3712599 20p13 20p13 600751 SIGLEC1, SN, CD169 Sialic acid-binding immunoglobulin-like lectin 1 (sialoadhesin) SIGLEC1 6614 ENSG00000088827 Siglec1 (MGI:99668) -chr20 3732684 3753110 20p13 20p13 610702 HSPA12B Heat-shock 70kD protein 12B HSPA12B 116835 ENSG00000132622 Hspa12b (MGI:1919880) -chr20 3777503 3781447 20p13 20p13 610674 C20orf28, CLAMP, SPEF1 Sperm flagellar protein 1 SPEF1 25876 ENSG00000101222 Spef1l,Spef1 (MGI:3513546,MGI:2685939) -chr20 3783850 3786739 20p13 20p13 117140 CENPB Centromeric protein B CENPB 1059 ENSG00000125817 Cenpb (MGI:88376) -chr20 3786950 3806117 20p13 20p13 116949 CDC25B Cell division cycle 25B CDC25B 994 ENSG00000101224 Cdc25b (MGI:99701) -chr20 3820546 3828837 20p13 20p13 614824 AP5S1, C20orf29 Adaptor-related protein complex 5, sigma-1 subunit AP5S1 55317 ENSG00000125843 Ap5s1 (MGI:1916846) -chr20 3846833 3876117 20p13 20p13 609676 MAVS, VISA, IPS1, CARDIF, KIAA1271 Mitochondrial antiviral signaling protein MAVS 57506 ENSG00000088888 Mavs (MGI:2444773) -chr20 3888780 3929886 20p13-p12.3 20p13 606157 PANK2, NBIA1, PKAN, HARP Pantothenate kinase 2 PANK2 80025 ENSG00000125779 HARP syndrome, 607236 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 1, 234200 (3), Autosomal recessive Pank2 (MGI:1921700) -chr20 3917493 3917570 20p13 20p13 613188 MIR103-2, MIRN103-2 Micro RNA 103-2 MIR103A2 406896 ENSG00000199024 Mir103-2 (MGI:3619059) -chr20 3927310 4015587 20p13-p12.1 20p13 612489 RNF24, G1L Ring finger protein 24 RNF24 11237 ENSG00000101236 Rnf24 (MGI:1261771) -chr20 4148827 4187731 20p13 20p13 615854 SMOX, SMO, PAO1, C20orf16, PAOH Spermine oxidase SMOX 54498 ENSG00000088826 Smox (MGI:2445356) -chr20 4220629 4249286 20p13 20p13 104219 ADRA1D, ADRA1A Adrenergic, alpha-1D-, receptor ADRA1D 146 ENSG00000171873 incorrectly assigned to 5q Adra1d (MGI:106673) -chr20 4686455 4701587 20pter-p12 20p13 176640 PRNP, PRIP, KURU, CJD Prion protein PRNP 5621 ENSG00000171867 pter-PRNP-SCG1-BMP2A-PAX1-cen Spongiform encephalopathy with neuropsychiatric features, 606688 (3), Autosomal dominant; Gerstmann-Straussler disease, 137440 (3), Autosomal dominant; Huntington disease-like 1, 603218 (3), Autosomal dominant; Insomnia, fatal familial, 600072 (3), Autosomal dominant; {Kuru, susceptibility to}, 245300 (3); Cerebral amyloid angiopathy, PRNP-related, 137440 (3), Autosomal dominant; Creutzfeldt-Jakob disease, 123400 (3), Autosomal dominant Prnp (MGI:97769) -chr20 4721908 4728459 20pter-p12 20p13 604263 PRND, DPL Prion-like protein doppel PRND 23627 ENSG00000171864 Prn,Prnd (MGI:1346999,MGI:97767) -chr20 4780022 4823667 20p13 20p13 609492 RASSF2, KIAA0168 Ras association domain family protein 2 RASSF2 9770 ENSG00000101265 Rassf2 (MGI:2442060) -chr20 4852357 5010312 20p13-p12 20p13 603791 SLC23A2, SVCT2 Solute carrier family 23 (nucleobase transporters), member 2 (sodium-dependent vitamin C transporter 2) SLC23A2 9962 ENSG00000089057 Slc23a2 (MGI:1859682) -chr20 5064876 5113090 20p13 20p-p 617019 TMEM230, C20orf30 Transmembrane protein 230 TMEM230 29058 ENSG00000089063 Tmem230 (MGI:1917862) -chr20 5100000 9200000 20p12.3 611738 BMND7 Bone mineral density QTL 7 100188853 most significant association with haplotype C {Osteoporosis}, 166710 (2), Autosomal dominant -chr20 5100000 9200000 20p12.3 612592 CRCS11 Colorectal cancer, susceptibility to, 11 100271692 associated with rs961253 {Colorectal cancer, susceptibility to, 11}, 612592 (2) -chr20 5114952 5126621 20p12 20p12.3 176740 PCNA, ATLD2 Proliferating cell nuclear antigen PCNA 5111 ENSG00000132646 pseudogenes on X and 6; mutation identified in one ATLD2 family ?Ataxia-telangiectasia-like disorder 2, 615919 (3), Autosomal recessive Pcna (MGI:97503) -chr20 5126843 5197886 20p13 20p12.3 603549 CDS2 CDP-diacylglycerol synthase 2 CDS2 8760 ENSG00000101290 Cds2 (MGI:1332236) -chr20 5298851 5316953 20p13 20p12.3 607123 PROKR2, PKR2, GPR73L1, HH3 Prokineticin receptor 2 PROKR2 128674 ENSG00000101292 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3), Autosomal dominant Prokr2 (MGI:2181363) -chr20 5544438 5611045 20p12.3 20p12.3 614124 GPCPD1, GDE5, KIAA1434 Glycerophosphocholine phosphodiesterase 1 GPCPD1 56261 ENSG00000125772 Gpcpd1 (MGI:104898) -chr20 5750285 5864394 20p12.3 20p12.3 618028 SHLD1, RINN3, C20orf196 Shield complex, subunit 1 SHLD1 149840 ENSG00000171984 Shld1 (MGI:1920997) -chr20 5911509 5925352 20pter-p12 20p12.3 118920 CHGB, SCG1 Chromogranin B (secretogranin B) CHGB 1114 ENSG00000089199 Chgb (MGI:88395) -chr20 5950651 6000940 20p13-p12.3 20p12.3 608187 MCM8, POF10 Minichromosome maintenance complement component 8 MCM8 84515 ENSG00000125885 mutation identified in 1 POF10 family ?Premature ovarian failure 10, 612885 (3), Autosomal recessive Mcm8 (MGI:1913884) -chr20 6005937 6040052 20p13-p12.3 20p12.3 608188 CRLS1, GCD10, C20orf155 Cardiolipin synthase 1 CRLS1 54675 ENSG00000088766 Crls1 (MGI:1913836) -chr20 6074844 6123608 20p13 20p12.3 607900 FERMT1, KIND1, URP1, C20orf42 Fermitin family, member 1 FERMT1 55612 ENSG00000101311 Kindler syndrome, 173650 (3), Autosomal recessive Fermt1 (MGI:2443583) -chr20 6767685 6780245 20p12 20p12.3 112261 BMP2, BMP2A, BDA2, SSFSC1 Bone morphogenetic protein-2 BMP2 650 ENSG00000125845 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, 617877 (3), Autosomal dominant; Brachydactyly, type A2, 112600 (3), Autosomal dominant; {HFE hemochromatosis, modifier of}, 235200 (3), Autosomal recessive Bmp2 (MGI:88177) -chr20 7882984 7940457 20p12 20p12.3 605023 HAO1, GOX1 Hydroxyacid oxidase 1 HAO1 54363 ENSG00000101323 Hao1 (MGI:96011) -chr20 7977345 8019760 20p12.3 20p12.3 616766 TMX4 Thioredoxin-related transmembrane protein 4 TMX4 56255 ENSG00000125827 Tmx4 (MGI:106558) -chr20 8132265 8884899 20p12 20p12.3 607120 PLCB1, KIAA0581, PLCB1A, PLCB1B, DEE12 Phospholipase C, beta-1 PLCB1 23236 ENSG00000182621 Developmental and epileptic encephalopathy 12, 613722 (3), Autosomal recessive Plcb1 (MGI:97613) -chr20 9068677 9480807 20p12 20p12.3-p12.2 600810 PLCB4, ARCND2 Phospholipase C, beta 4 PLCB4 5332 ENSG00000101333 Auriculocondylar syndrome 2, 614669 (3), Autosomal dominant, Autosomal recessive Plcb4 (MGI:107464) -chr20 9514589 9530523 20p12.2 20p12.2 614641 LAMP5, BADLAMP Lysosome-associated membrane protein 5 LAMP5 24141 ENSG00000125869 Lamp5 (MGI:1923411) -chr20 9537369 9839075 20p12.2 20p12.2 608038 PAK5, PAK7, KIAA1264 p21 (RAC1) activated kinase PAK5 57144 ENSG00000101349 Pak5 (MGI:1920334) -chr20 10218829 10307419 20p11.2 20p12.2 600322 SNAP25, CMS18 Synaptosomal-associated protein, 25kD SNAP25 6616 ENSG00000132639 mutation identified in 1 CMS18 patient ?Myasthenic syndrome, congenital, 18, 616330 (3), Autosomal dominant Snap25 (MGI:98331) -chr20 10401008 10434221 20p12 20p12.2 604896 MKKS, HMCS, KMS, MKS, BBS6 McKusick-Kaufman syndrome gene MKKS 8195 ENSG00000125863 McKusick-Kaufman syndrome, 236700 (3), Autosomal recessive; Bardet-Biedl syndrome 6, 605231 (3), Autosomal recessive Mkks (MGI:1891836) -chr20 10435135 10628137 20p12.2 20p12.2 615958 SLX4IP, C20orf94 SLX4-interacting protein SLX4IP 128710 ENSG00000149346 Slx4ip (MGI:1921493) -chr20 10637683 10673998 20p12 20p12.2 601920 JAG1, AGS1, AHD, DCHE Jagged 1 JAG1 182 ENSG00000101384 mutation identified in 1 DCHE family ?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3), Autosomal dominant; Alagille syndrome 1, 118450 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant Jag1 (MGI:1095416) -chr20 11890722 11926594 20p12.2 20p12.2 615566 BTBD3, KIAA0952 BTB/POZ domain-containing protein 3 BTBD3 22903 ENSG00000132640 Btbd3 (MGI:2385155) -chr20 12000000 17900000 20p12 608696 GLC1K, JOAG3 Glaucoma 1K, primary open angle, juvenile-onset 574077 between D20S189 and D20S104 Glaucoma 1K, primary open angle, juvenile-onset, 608696 (2) -chr20 12000000 17900000 20p12 610065 SLEB7 Systemic lupus erythematosus, susceptibility to, 7 100188803 {Systemic lupus erythematosus, susceptibility to, 7}, 610065 (2) -chr20 13008971 13169102 20p12.3-p12.1 20p12.1 611120 SPTLC3, SPTLC2L Serine palmitoyltransferase, long-chain base subunit 3 SPTLC3 55304 ENSG00000172296 Sptlc3 (MGI:2444678) -chr20 13104759 13638931 20p12.1 20p12.1 608270 TASP1, C20orf13, SULEHS Threonine aspartase 1 TASP1 55617 ENSG00000089123 Suleiman-El-Hattab syndrome, 618950 (3), Autosomal recessive Tasp1 (MGI:1923062) -chr20 13221273 13326733 20p12.1 20p12.1 615793 ISM1, ISM Isthmin 1, angiogenesis inhibitor ISM1 140862 ENSG00000101230 Ism1 (MGI:2442963) -chr20 13714324 13784918 20p12.1 20p12.1 618765 ESF1, ABTAP ESF1 nucleolar pre-rRNA-processing protein ESF1 51575 ENSG00000089048 Esf1 (MGI:1913830) -chr20 13785025 13821579 20p12.1 20p12.1 612360 NDUFAF5, C20orf7, MC1DN16 NADH-ubiquinone oxidoreductase complex assembly factor 5 NDUFAF5 79133 ENSG00000101247 Mitochondrial complex I deficiency, nuclear type 16, 618238 (3), Autosomal recessive Ndufaf5 (MGI:1916737) -chr20 13848585 13995332 20p12.1 20p12.1 614289 SEL1L2 Suppressor of Lin12-like 2 SEL1L2 80343 ENSG00000101251 Sel1l2 (MGI:2684964) -chr20 13995515 16053196 20p12 20p12.1 611567 MACROD2, C2orf133 Macro domain-containing 2 MACROD2 140733 ENSG00000172264 Macrod2 (MGI:1920149) -chr20 14322984 14337846 20p11 20p12.1 604808 FLRT3, HH21 Fibronectin-like domain-containing leucine-rich transmembrane protein-3 FLRT3 23767 ENSG00000125848 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3), Autosomal dominant Flrt3 (MGI:1918686) -chr20 16272103 16573456 20p12.1 20p12.1 618171 KIF16B Kinesin family member 16B KIF16B 55614 ENSG00000089177 Kif16b (MGI:1098240) -chr20 16730025 16742563 20p12.1 20p12.1 603520 SNRPB2 Small nuclear ribonucleoprotein polypeptide B-double prime SNRPB2 6629 ENSG00000125870 Snrpb2 (MGI:104805) -chr20 16748357 16752163 20p11 20p12.1 606067 OTOR Otoraplin OTOR 56914 ENSG00000125879 Otor (MGI:1888678) -chr20 17226106 17484577 20p11.2 20p12.1 162151 PCSK2, NEC2, PC2 Proprotein convertase subtilisin/kexin type 2 PCSK2 5126 ENSG00000125851 Pcsk2 (MGI:97512) -chr20 17493904 17569219 20p12.1-p11.23 20p12.1 603307 BFSP1, CP115, CTRCT33 Beaded filament structural protein-1 (filensin) BFSP1 631 ENSG00000125864 Cataract 33, multiple types, 611391 (3), Autosomal dominant, Autosomal recessive Bfsp1 (MGI:101770) -chr20 17569172 17609918 20p12.1 20p12.1 609114 DSTN, ADF Destrin DSTN 11034 ENSG00000125868 Dstn (MGI:1929270) -chr20 17613678 17682241 20p12-p11.2 20p12.1 601418 RRBP1, ES130 Ribosome binding protein-1 RRBP1 6238 ENSG00000125844 Rrbp1 (MGI:1932395) -chr20 17941599 17968793 20p11 20p11.23 605937 SNX5 Sorting nexin 5 SNX5 27131 ENSG00000089006 Snx5 (MGI:1916428) -chr20 17968593 17991121 20p11.23 20p11.23 615076 MGME1, C20orf72, MTDPS11 Mitochondrial genome maintenance exonuclease 1 MGME1 92667 ENSG00000125871 Mitochondrial DNA depletion syndrome 11, 615084 (3), Autosomal recessive Mgme1 (MGI:1921778) -chr20 18024151 18059187 20p11.23 20p11.23 616441 OVOL2, ZNF339, PPCD1 ovo-like 2 OVOL2 58495 ENSG00000125850 Corneal dystrophy, posterior polymorphous, 1, 122000 (3), Autosomal dominant Ovol2 (MGI:1338039) -chr20 18137152 18188371 20p11.23 20p11.23 617501 KAT14, CRP2BP, CSRP2BP, ATAC2 Lysine acetyltransferase 14 KAT14 57325 ENSG00000149474 Kat14 (MGI:1917264) -chr20 18137862 18143168 20p11.23 20p11.23 614771 PET117, MC4DN19 PET117 cytochrome c oxidase chaperone PET117 100303755 ENSG00000232838 mutation identified in 1 MC4DN19 family ?Mitochondrial complex IV deficiency, nuclear type 19, 619063 (3), Autosomal recessive Pet117 (MGI:5295678) -chr20 18288519 18316995 20p11.2 20p11.23 604075 ZNF133 Zinc finger protein-133 ZNF133 7692 ENSG00000125846 -chr20 18467389 18484645 20p11.23 20p11.23 617455 POLR3F, RPC39, RPC6 Polymerase III, RNA, subunit F POLR3F 10621 ENSG00000132664 Polr3f (MGI:1924086) -chr20 18486539 18497249 20p11.2 20p11.23 602908 RBBP9, BOG Retinoma-binding protein 9 RBBP9 10741 ENSG00000089050 Rbbp9 (MGI:1347074) -chr20 18507547 18561414 20p11.2 20p11.23 610512 SEC23B, CDAN2, HEMPAS, CWS7 SEC23 homolog B, coat complex II component SEC23B 10483 ENSG00000101310 mutation identified in 1 CWS7 family ?Cowden syndrome 7, 616858 (3), Autosomal dominant; Dyserythropoietic anemia, congenital, type II, 224100 (3), Autosomal recessive Sec23b (MGI:1350925) -chr20 18588053 18766643 20p11 20p11.23 610996 DTD1, C20orf88 D-aminoacyl-tRNA deacylase 1 DTD1 92675 ENSG00000125821 Dtd1 (MGI:1913294) -chr20 19212641 19722925 20p13 20p11.23 609839 SLC24A3, NCKX3 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 SLC24A3 57419 ENSG00000185052 Slc24a3 (MGI:2137513) -chr20 19757609 20002455 20p11.22 20p11.23 610222 RIN2, MACS RAS and RAB interactor 2 RIN2 54453 ENSG00000132669 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3), Autosomal recessive Rin2 (MGI:1921280) -chr20 20017289 20033654 20p11.2 20p11.23 610833 NAA20, NAT5, NAT3 N-alpha-acetyltransferase 20, NatB catalytic subunit NAA20 51126 ENSG00000173418 Naa20 (MGI:1915127) -chr20 20034367 20056045 20p11.2 20p11.23 610952 CRNKL1, CRN Crooked neck pre-mRNA splicing factor-like 1 CRNKL1 51340 ENSG00000101343 Crnkl1 (MGI:1914127) -chr20 20368103 20370948 20p11.2 20p11.23 600010 INSM1, IA1 Insulinoma-associated 1 INSM1 3642 ENSG00000173404 Insm1 (MGI:1859980) -chr20 20389529 20712643 20p11.23 20p11.23 618836 RALGAPA2, AS250, C20orf74 Ral GTPase-activating protein, catalytic subunit alpha-2 RALGAPA2 57186 ENSG00000188559 Ralgapa2 (MGI:3036245) -chr20 21087603 21106357 20p11.23 20p11.23 614992 LINC00237 Long intergenic noncoding RNA 237 LINC00237 105372556 ENSG00000225127 -chr20 21125974 21246621 20p11.23 20p11.23 615757 KIZ, KIZUNA, C20orf19, RP69 Kizuna centrosomal protein KIZ 55857 ENSG00000088970 Retinitis pigmentosa 69, 615780 (3), Autosomal recessive Kiz (MGI:2684960) -chr20 21300000 22300000 20p11.22 612421 AGA3 Alopecia, androgenetic, 3 100217387 associated with rs1160312 Alopecia, androgenetic, 3, 612421 (2) -chr20 21303312 21389824 20p11.2-p11.1 20p11.22 608851 XRN2 Exoribonuclease 2 XRN2 22803 ENSG00000088930 Xrn2 (MGI:894687) -chr20 21395364 21397525 20p11 20p11.22 607808 NKX2-4, NKX2D NK2 homeobox 4 NKX2-4 644524 ENSG00000125816 Nkx2-4 (MGI:97349) -chr20 21511009 21514063 20p11 20p11.22 604612 NKX2-2, NKX2B NK2, homeobox 2 NKX2-2 4821 ENSG00000125820 Nkx2-2 (MGI:97347) -chr20 21705663 21718480 20p11.2 20p11.22 167411 PAX1, OFC2 Paired box homeotic gene-1 PAX1 5075 ENSG00000125813 Otofaciocervical syndrome 2, 615560 (3), Autosomal recessive Pax1 (MGI:97485) -chr20 22300000 47800000 20p11.2-q13.12 612406 DYT17 Dystonia-17, primary torsion 100216344 between D20S472 and D20S911 Dystonia-17, primary torsion, 612406 (2), Autosomal recessive -chr20 22560552 22578641 20p11 20p11.21 618518 LINC00261, FALCOR, HCCDR1, DEANR1 Long intergenic noncoding RNA 261 LINC00261 140828 ENSG00000259974 9030622O22Rik (MGI:1918820) -chr20 22580997 22585489 20p11 20p11.21 600288 FOXA2, HNF3B Forkhead box A2 (hepatic nuclear factor-3, beta) FOXA2 3170 ENSG00000125798 Foxa2 (MGI:1347476) -chr20 23035311 23039236 20p11.2 20p11.21 182454 SSTR4 Somatostatin receptor-4 SSTR4 6754 ENSG00000132671 Sstr4 (MGI:105372) -chr20 23045632 23049671 20p11.2 20p11.21 188040 THBD, THRM, AHUS6, THPH12 Thrombomodulin THBD 7056 ENSG00000178726 Thrombophilia due to thrombomodulin defect, 614486 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3), Autosomal dominant Thbd (MGI:98736) -chr20 23076553 23086829 20p11.21 20p11.21 120577 C1QR1, CD93, C1QR Complement component 1, q subcomponent, receptor 1 CD93 22918 ENSG00000125810 Cd93 (MGI:106664) -chr20 23350790 23354770 20p12-p11.2 20p11.21 605811 NXT1, MTR2 NTF2-related export protein 1 NXT1 29107 ENSG00000132661 Nxt1 (MGI:1929619) -chr20 23361584 23375398 20p11.21 20p11.21 613842 GZF1, ZNF336, JLSM GDNF-inducible zinc finger protein 1 GZF1 64412 ENSG00000125812 Joint laxity, short stature, and myopia, 617662 (3), Autosomal recessive Gzf1 (MGI:1921783) -chr20 23374521 23421497 20p11.21 20p11.21 611270 NAPB, SNAPB NSF attachment protein, beta NAPB 63908 ENSG00000125814 Napb (MGI:104562) -chr20 23450411 23452875 20p11.21 20p11.21 609731 CST11, CST8L Cystatin 11 CST11 140880 ENSG00000125831 Cst11 (MGI:1925490) -chr20 23564731 23568483 20p11.2 20p11.21 616536 CST9L Cystatin 9-like CST9L 128821 ENSG00000101435 Cst9 (MGI:1340053) -chr20 23602409 23605916 20p11.2 20p11.21 616543 CST9, CLM Cystatin 9 CST9 128822 ENSG00000173335 Cst9 (MGI:1340053) -chr20 23626705 23637954 20p11.2 20p11.21 604312 CST3, ARMD11 Cystatin C CST3 1471 ENSG00000101439 proximal to 20p11.2 {Macular degeneration, age-related, 11}, 611953 (3); Cerebral amyloid angiopathy, 105150 (3), Autosomal dominant Cst3 (MGI:102519) -chr20 23685639 23689037 20p11.2 20p11.21 123857 CST4 Cystatin S CST4 1472 ENSG00000101441 Cst10,Cst3 (MGI:1930004,MGI:102519) -chr20 23747561 23750934 20p11.2 20p11.21 123855 CST1 Cystatin SN CST1 1469 ENSG00000170373 Cst10,Cst3 (MGI:1930004,MGI:102519) -chr20 23823768 23826728 20p11.2 20p11.21 123856 CST2 Cystatin SA CST2 1470 ENSG00000170369 Cst10,Cst3 (MGI:1930004,MGI:102519) -chr20 23875933 23879747 20p11.21 20p11.21 123858 CST5 Cystatin D CST5 1473 ENSG00000170367 Cst10,Cst3 (MGI:1930004,MGI:102519) -chr20 23985052 23989133 20p11.1 20p11.21 612338 GGTLC1, GGTL6, GGTLA4 Gamma-glutamyltransferase, light chain 1 GGTLC1 92086 ENSG00000149435 Ggt1 (MGI:95706) -chr20 24091534 24112233 20p11.21 20p11.21 618507 WAKMAR1 Wound- and keratinocyte migration-associated long noncoding RNA 1 105372576 -chr20 24469628 24666615 20p11.21 20p11.21 614311 SYNDIG1, TMEM90B Synapse differentiation-induced gene 1 SYNDIG1 79953 ENSG00000101463 Syndig1 (MGI:3702158) -chr20 24949268 24959927 20p11.2 20p11.21 603253 CST7, CMAP Cystatin 7 CST7 8530 ENSG00000077984 Cst7 (MGI:1298217) -chr20 24962924 24992929 20p11.2 20p11.21 615884 APMAP, C20orf3, BSCV Adipocyte plasma membrane-associated protein APMAP 57136 ENSG00000101474 Apmap (MGI:1919131) -chr20 25006231 25058142 20p11.23-p11.21 20p11.21 614355 ACSS1, ACECS1 Acyl-CoA synthetase short-chain family, member 1 ACSS1 84532 ENSG00000154930 Acss1 (MGI:1915988) -chr20 25069939 25082140 20p11.2 20p11.21 605020 VSX1, RINX, KTCN1, CAASDS Visual system homeobox 1 VSX1 30813 ENSG00000100987 mutation identified in 1 CAASDS family ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3); Keratoconus 1, 148300 (3), Autosomal dominant Vsx1 (MGI:1890816) -chr20 25195702 25228074 20q11.2 20p11.21 603160 ENTPD6, CD39L2 Ectonucleoside triphosphate diphosphohydrolase 6 ENTPD6 955 ENSG00000197586 Entpd6 (MGI:1202295) -chr20 25248038 25298011 20p11.2-p11.1 20p11.21 138550 PYGB Phosphorylase, glycogen, brain PYGB 5834 ENSG00000100994 Pygb (MGI:97828) -chr20 25294742 25390834 20p11.21 20p11.21 613599 ABHD12, PHARC Abhydrolase domain-containing protein 12, lysophospholipase ABHD12 26090 ENSG00000100997 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3), Autosomal recessive Abhd12 (MGI:1923442) -chr20 25407469 25448567 20p11.21 20p11.21 610608 GINS1, PSF1, KIAA0186, IMD55 GINS complex subunit 1 GINS1 9837 ENSG00000101003 Immunodeficiency 55, 617827 (3), Autosomal recessive Gins1 (MGI:1916520) -chr20 25452696 25585530 20p11.21 20p11.21 609580 NINL, KIAA0980 Ninein-like protein NINL 22981 ENSG00000101004 Ninl (MGI:1925427) -chr20 25612934 25624013 20p11 20p11.21 610763 NANP, HDHD4 N-acetylneuraminic acid phosphatase NANP 140838 ENSG00000170191 Nanp (MGI:1914561) -chr20 31368600 31373922 20q11 20q11.21 607650 DEFB118, C20orf63, ESC42 Defensin, beta, 118 DEFB118 117285 ENSG00000131068 Defb21 (MGI:2684967) -chr20 31377162 31390648 20q11.1 20q11.21 615997 DEFB119, DEFB120, DEFB20 Defensin, beta, 119 DEFB119 245932 ENSG00000180483 Defb19 (MGI:2385955) -chr20 31404844 31418521 20q11.1 20q11.21 616075 DEFB121, DEFB21 Defensin, beta, 121 DEFB121 245934 ENSG00000204548 -chr20 31421438 31429179 20q11.1 20q11.21 616077 DEFB122, DEFB22 Defensin, beta, 122, pseudogene DEFB122 245935 ENSG00000204547 -chr20 31440631 31450256 20q11.1 20q11.21 616076 DEFB123, DEFB23 Defensin, beta, 123 DEFB123 245936 ENSG00000180424 Defb36 (MGI:2385956) -chr20 31475272 31484894 20q11.21 20q11.21 610388 REM1, GES RRAD- and GEM-like GTPase 1 REM1 28954 ENSG00000088320 Rem1 (MGI:1097696) -chr20 31514441 31569542 20q11.21 20q11.21 607106 HM13, SPP Minor histocompatibility 13 (signal peptide peptidase) HM13 81502 ENSG00000101294 H13 (MGI:95886) -chr20 31605288 31606509 20q11 20q11.21 600349 ID1 Inhibitor of DNA binding 1, dominant negative ID1 3397 ENSG00000125968 Id1 (MGI:96396) -chr20 31637855 31645008 20q11.21 20q11.21 607976 COX4I2 Cytochrome c oxidase, subunit IV, isoform 2 COX4I2 84701 ENSG00000131055 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3), Autosomal recessive Cox4i2 (MGI:2135755) -chr20 31664451 31723962 20q11.21 20q11.21 600039 BCL2L1, BCLX, BCLXL, BCLXS BCL2-like 1 BCL2L1 598 ENSG00000171552 Bcl2l1 (MGI:88139) -chr20 31739247 31801801 20q11.2 20q11.21 605917 C20orf1, P100 Proliferation-associated nuclear protein, 100kD TPX2 22974 ENSG00000088325 Tpx2 (MGI:1919369) -chr20 31819355 31834683 20q13.3 20q11.21 606566 MYLK2, MLCK Myosin light chain kinase 2 MYLK2 85366 ENSG00000101306 Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3), Digenic dominant, Autosomal dominant Mylk2 (MGI:2139434) -chr20 31844302 31845603 20q11.1-q11.2 20q11.21 602939 FOXS1, FKHL18, FREAC10 Forkhead box S1 FOXS1 2307 ENSG00000179772 Foxs1 (MGI:95546) -chr20 31845577 31870663 20q11.21 20q11.21 616776 DUSP15, VHY Dual-specificity phosphatase 15 DUSP15 128853 ENSG00000149599 Dusp15 (MGI:1934928) -chr20 31944336 31952045 20q11 20q11.21 610789 PDRG1, PDRG, C20orf126 P53 and DNA damage-regulated 1 PDRG1 81572 ENSG00000088356 Pdrg1 (MGI:1915809) -chr20 32052241 32101855 20q11-q12 20q11.21 142370 HCK Hemopoietic cell kinase HCK 3055 ENSG00000101336 Hck (MGI:96052) -chr20 32109713 32167255 20q11.21 20q11.21 617727 TM9SF4, KIAA0255 Transmembrane 9 superfamily, member 4 TM9SF4 9777 ENSG00000101337 Tm9sf4 (MGI:2139220) -chr20 32192503 32207742 20q11.21 20q11.21 604866 PLAGL2 PLAG1-like zinc finger 2 PLAGL2 5326 ENSG00000126003 Plagl2 (MGI:1933165) -chr20 32207879 32238657 20q11.21 20q11.21 607491 POFUT1, OFUCT1, KIAA0180, DDD2 Protein O-fucosyltransferase 1 POFUT1 23509 ENSG00000101346 Dowling-Degos disease 2, 615327 (3), Autosomal dominant Pofut1 (MGI:2153207) -chr20 32277650 32335010 20q11.21 20q11.21 603754 KIF3B, KIAA0359, RP89 Kinesin family member 3B KIF3B 9371 ENSG00000101350 Retinitis pigmentosa 89, 618955 (3), Autosomal dominant Kif3b (MGI:107688) -chr20 32358061 32439318 20q11.21 20q11.21 612990 ASXL1, KIAA0978, BOPS, MDS ASXL transcriptional regulator 1 ASXL1 171023 ENSG00000171456 Myelodysplastic syndrome, somatic, 614286 (3); Bohring-Opitz syndrome, 605039 (3), Autosomal dominant Asxl1 (MGI:2684063) -chr20 32443058 32585332 20q11.21 20q11.21 618893 NOL4L, C20orf112 Nucleolar protein 4-like NOL4L 140688 ENSG00000197183 Nol4l (MGI:1918765) -chr20 32702690 32743471 20q11.21 20q11.21 616703 COMMD7 COMM domain-containing protein 7 COMMD7 149951 ENSG00000149600 Commd7 (MGI:1914197) -chr20 32762384 32809355 20q11.2 20q11.21 602900 DNMT3B, ICF1, FSHD4 DNA methyltransferase 3B DNMT3B 1789 ENSG00000088305 Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3), Autosomal recessive; Facioscapulohumeral muscular dystrophy 4, digenic, 619478 (3), Digenic dominant Dnmt3b (MGI:1261819) -chr20 32819779 32850404 20q11.1-q11.23 20q11.21 603108 MAPRE1, EB1 Microtubule-associated protein, RP/EB family, member 1 MAPRE1 22919 ENSG00000101367 Mapre1 (MGI:891995) -chr20 32983772 33004448 20q11.2 20q11.21 613942 SUN5, TSARG4, SPAG4L, SPGF16 Sad1 and Unc84 domain-containing protein 5 SUN5 140732 ENSG00000167098 Spermatogenic failure 16, 617187 (3), Autosomal recessive Sun5 (MGI:1923657) -chr20 33007703 33023702 20q11 20q11.21 614108 BPIFB2, BPIL1 BPI fold-containing protein, family B, member 2 BPIFB2 80341 ENSG00000078898 Bpifb2 (MGI:1913807) -chr20 33031647 33044107 20q11 20q11.21 614110 BPIFB6, BPIL3 BPI fold-containing protein, family B, member 6 BPIFB6 128859 ENSG00000167104 Bpifb6 (MGI:2684965) -chr20 33053902 33073846 20q11.21 20q11.21 615717 BPIFBP3, RYA3 BPI fold-containing protein, family B, member 3 BPIFB3 359710 ENSG00000186190 Bpifb3 (MGI:2675077) -chr20 33079642 33111750 20q11.21 20q11.21 615718 BPIFB4, RY2G5 BPI fold-containing protein, family B, member 4 BPIFB4 149954 ENSG00000186191 Bpifb4 (MGI:2685852) -chr20 33193604 33210461 20q11.21 20q11.21 607627 BPIFA4P, BASE BPI fold-containing protein, family A, member 4, pseudogene BPIFA4P 317716 ENSG00000183566 -chr20 33235995 33243305 20q11 20q11.21 607412 BPIFA1, PLUNC, SPLUNC1 BPI fold-containing protein, family A, member 1 BPIFA1 51297 ENSG00000198183 Bpifa1,Bpifa5 (MGI:1338036,MGI:1914385) -chr20 33358838 33403029 20q11.2 20q11.21 608200 CDK5RAP1 CDK5 regulatory subunit-associated protein 1 CDK5RAP1 51654 ENSG00000101391 Cdk5rap1 (MGI:1914221) -chr20 33407956 33443852 20q11.2 20q11.21 601017 SNTA1, SNT1, TACIP1, LQT12 Syntrophin, alpha-1 SNTA1 6640 ENSG00000101400 Long QT syndrome 12, 612955 (3), Autosomal dominant Snta1 (MGI:101772) -chr20 33490069 33650030 20q11.2 20q11.21-q11.22 603672 CBFA2T2, MTGR1, EHT Core-binding factor, runt domain, alpha subunit 2, translocated to, 2 (ETO homolog on chromosome 20) CBFA2T2 9139 ENSG00000078699 Cbfa2t2 (MGI:1333833) -chr20 33500000 35800000 20q11.22 612228 STQTL14 Stature quantitative trait locus 14 100270797 associated with rs6060373 {Stature QTL 14}, 612228 (2) -chr20 33657086 33674427 20q11.22 20q11.22 612478 NECAB3, EFCBP3, NIP1, APBA2BP, XB51, STIP3 N-terminal EF-hand calcium-binding protein 3 NECAB3 63941 ENSG00000125967 Necab3 (MGI:1861721) -chr20 33675476 33686384 20q11.2 20q11.22 189971 E2F1 E2F transcription factor-1 E2F1 1869 ENSG00000101412 E2f1 (MGI:101941) -chr20 33702757 33720309 20q11.22 20q11.22 616397 PXMP4, PMP24 Peroxisomal membrane protein 4 PXMP4 11264 ENSG00000101417 Pxmp4 (MGI:1891701) -chr20 33731656 33792268 20q11.22 20q11.22 618269 ZNF341, HIES3 Zinc finger protein 341 ZNF341 84905 ENSG00000131061 Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3), Autosomal recessive Zfp341 (MGI:2682937) -chr20 33811347 33854365 20q11.21 20q11.22 610897 CHMP4B, SNF7, CTPP3, CTRCT31 Charged multivesicular body protein 4B CHMP4B 128866 ENSG00000101421 Cataract 31, multiple types, 605387 (3), Autosomal dominant Chmp4b (MGI:1922858) -chr20 33993658 34084883 20q11.22 20q11.22 614663 RALY RALY heterogeneous nuclear ribonuclear protein RALY 22913 ENSG00000125970 Raly (MGI:97850) -chr20 34088308 34112242 20q11.22 20q11.22 603908 EIF2S2 Eukaryotic translation initiation factor 2, subunit 2 EIF2S2 8894 ENSG00000125977 Eif2s2 (MGI:1914454) -chr20 34186492 34269343 20q11.2 20q11.22 600201 ASIP, AGTIL, SHEP9 Agouti, mouse, signaling protein ASIP 434 ENSG00000101440 [Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3); [Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3) a (MGI:87853) -chr20 34235011 34311975 20cen-q13.1 20q11.22 180960 AHCY, SAHH S-adenosylhomocysteine hydrolase AHCY 191 ENSG00000101444 ~13cM from ADA Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3), Autosomal recessive Ahcy,Ahcyl (MGI:3643647,MGI:87968) -chr20 34363272 34511772 20q11.22-q11.23 20q11.22 606409 ITCH, AIP4, NAPP1, ADMFD Itchy, mouse, homolog of ITCH 83737 ENSG00000078747 Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3), Autosomal recessive Itch (MGI:1202301) -chr20 34515601 34540957 20q12-q13.11 20q11.22 607167 DYNLRB1, DNCL2A, DNLC2A Dynein, light chain, roadblock type, 1 DYNLRB1 83658 ENSG00000125971 Dynlrb1 (MGI:1914318) -chr20 34546822 34560344 20cen-q13 20q11.22 601242 MAP1ALC3, MAP1BLC3 Microtubule-associated proteins 1A and 1B, light chain 3 MAP1LC3A 84557 ENSG00000101460 Map1lc3a (MGI:1915661) -chr20 34560541 34677102 20q11.22 20q11.22 608528 PIGU, CDC91L1, GPIBD21, NEDBSS Phosphatidylinositol glycan anchor biosynthesis class U protein PIGU 128869 ENSG00000101464 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, 618590 (3), Autosomal recessive Pigu (MGI:3039607) -chr20 34704343 34713438 20q11.2 20q11.22 617549 TP53INP2, PIGU, DOR, C20orf110 Tumor protein p53-inducible nuclear protein 2 TP53INP2 58476 ENSG00000078804 Trp53inp2 (MGI:1915978) -chr20 34714773 34825650 20q11 20q11.22 605299 NCOA6, ASC2, RAP250, NRC, PRIP Nuclear receptor coactivator 6 NCOA6 23054 ENSG00000198646 Ncoa6 (MGI:1929915) -chr20 34844719 34872856 20q11.2 20q11.22 612342 GGT7, GGTL3, GGTL5, GGT4 Gamma-glutamyltransferase 7 GGT7 2686 ENSG00000131067 Ggt7 (MGI:1913385) -chr20 34874941 34927961 20q11.22 20q11.22 605832 ACSS2, ACS Acetyl-CoA synthetase short-chain family member 2 ACSS2 55902 ENSG00000131069 Acss2 (MGI:1890410) -chr20 34928431 34956026 20q11.2 20q11.22 601002 GSS, GSHS Glutathione synthetase GSS 2937 ENSG00000100983 Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3), Autosomal recessive; Glutathione synthetase deficiency, 266130 (3), Autosomal recessive Gss (MGI:95852) -chr20 34955867 35002436 20q11.22 20q11.22 609928 MYH7B, MYH14, KIAA1512 Myosin, heavy chain 7B, cardiac muscle, beta MYH7B 57644 ENSG00000078814 Myh7b (MGI:3710243) -chr20 34990375 34990496 20q11.22 20q11.22 613614 MIR499, MIRN499 Micro RNA 499 MIR499A 574501 ENSG00000207635 Mir499 (MGI:3629633) -chr20 35002403 35092834 20q11.23 20q11.22 608430 TRPC4AP, TRUSS TRPC4-associated protein TRPC4AP 26133 ENSG00000100991 Trpc4ap (MGI:1930751) -chr20 35115363 35147335 20q11.22 20q11.22 610302 EDEM2 Endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 2 EDEM2 55741 ENSG00000088298 Edem2 (MGI:1915540) -chr20 35172071 35215988 20q11.2 20q11.22 600646 PROCR, EPCR, CCCA, CCD41 Protein C receptor PROCR 10544 ENSG00000101000 Procr (MGI:104596) -chr20 35226689 35276997 20q11.2 20q11.22 604871 MMP25 Matrix metalloproteinase 24 MMP24 10893 ENSG00000125966 Mmp24 (MGI:1341867) -chr20 35278905 35284771 20q11.2 20q11.22 602912 EIF6, EIF3A, ITGB4BP Eukaryotic translation initiation factor 6 EIF6 3692 ENSG00000242372 Eif6 (MGI:1196288) -chr20 35302577 35412046 20q11.22 20q11.22 611797 UQCC, CBP3, BFZB, C20orf44 Ubiquinol-cytochrome C reductase complex chaperone UQCC1 55245 ENSG00000101019 Uqcc1 (MGI:1929472) -chr20 35433346 35454748 20q11.2 20q11.22 601146 GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1) GDF5 8200 ENSG00000125965 mutation identified in 1 AMDHT family Du Pan syndrome, 228900 (3), Autosomal recessive; Multiple synostoses syndrome 2, 610017 (3), Autosomal dominant; Symphalangism, proximal, 1B, 615298 (3), Autosomal dominant; ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3), Autosomal recessive; Brachydactyly, type A2, 112600 (3), Autosomal dominant; Brachydactyly, type C, 113100 (3), Autosomal dominant; Chondrodysplasia, Grebe type, 200700 (3), Autosomal recessive; {Osteoarthritis-5}, 612400 (3); Brachydactyly, type A1, C, 615072 (3), Autosomal dominant, Autosomal recessive Gdf5 (MGI:95688) -chr20 35455136 35519279 20q11.2 20q11.22 609689 CEP250, CEP2, CNAP1, CRDHL2 Centrosomal protein, 250kD CEP250 11190 ENSG00000126001 Cone-rod dystrophy and hearing loss 2, 618358 (3), Autosomal recessive Cep250 (MGI:108084) -chr20 35542077 35557633 20q11.22 20q11.22 616971 ERGIC3, C2orf47 Endoplasmic reticulum-golgi intermediate compartment protein 3 ERGIC3 51614 ENSG00000125991 Ergic3 (MGI:1913616) -chr20 35615828 35621093 20q11.2 20q11.22 603038 SPAG4 Sperm-associated antigen-4 SPAG4 6676 ENSG00000061656 Spag4 (MGI:2444120) -chr20 35626043 35664899 20q11.22 20q11.22 604205 CPNE1, CPN1 Copine I CPNE1 8904 ENSG00000214078 Cpne1 (MGI:2386621) -chr20 35648924 35664899 20q11.2 20q11.22 607179 RBM12, KIAA0765, SCZD19 RNA-binding motif protein 12 RBM12 10137 ENSG00000244462 {Schizophrenia 19, susceptibility to}, 617629 (3), Autosomal dominant Rbm12 (MGI:1922960) -chr20 35668051 35699351 20q11.22 20q11.22 603485 NFS1, NIFS, COXPD52 NFS1 cysteine desulfurase 1 NFS1 9054 ENSG00000244005 Combined oxidative phosphorylation deficiency 52, 619386 (3), Autosomal recessive Nfs1 (MGI:1316706) -chr20 35699309 35700981 20q11.22 20q11.22 618894 ROMO1, GLYRICHIN Reactive oxygen species modulator 1 ROMO1 140823 ENSG00000125995 Romo1 (MGI:1914317) -chr20 35701346 35742261 20q11.22 20q11.22 604739 RBM39, CAPER, RNPC2 RNA binding motif protein 39 RBM39 9584 ENSG00000131051 Rbm39 (MGI:2157953) -chr20 35772002 35950371 20q11.1-q11.23 20q11.22-q11.23 610335 PHF20, GLEA2, HCA58 PHD finger protein 20 PHF20 51230 ENSG00000025293 Phf20 (MGI:2444148) -chr20 35800000 39000000 20q11.2 612263 CMM7 Melanoma, cutaneous malignant, susceptibility to, 7 100190932 between rs910873 and rs1885120 {Melanoma, cutaneous malignant, 7}, 612263 (2) -chr20 35800000 64444167 20q11-q13 610261 HYT5 Hypertension, essential, susceptibility to, 5 100188807 {Hypertension, essential, susceptibility to, 5}, 145500 (2), Multifactorial -chr20 35800000 64444167 20q11-q13 617352 MBCS Mulchandani-Bhoj-Conlin syndrome maternal uniparental disomy of imprinted region Mulchandani-Bhoj-Conlin syndrome, 617352 (3), Autosomal dominant -chr20 35800000 43100000 20q11.2-q12 601308 MLRL, MTS Myeloid leukemia-related locus (myeloid tumor suppressor) 8201 -chr20 35800000 64444167 20q11-q13 608029 SCAR6, CLA3 Spinocerebellar ataxia, autosomal recessive 6 1167 between D20S471 and D20S119 Spinocerebellar ataxia, autosomal recessive 6, 608029 (2), Autosomal recessive -chr20 35953623 35959471 20q11.23 20q11.23 610416 SCAND1, RAZ1, SDP1 SCAN domain-containing 1 SCAND1 51282 ENSG00000171222 Scand1 (MGI:1343132) -chr20 36045617 36050959 20q11.23 20q11.23 617037 NORAD, LINC00657 Noncoding RNA activated by DNA damage NORAD 647979 ENSG00000260032 Norad (MGI:1914767) -chr20 36064890 36232798 20q11.2-q12 20q11.23 602879 EPB41L1, MRD11 Erythrocyte membrane protein band 4.1-like 1 EPB41L1 2036 ENSG00000088367 mutation identified in 1 MRD11 patient ?Intellectual developmental disorder, autosomal dominant 11, 614257 (3), Autosomal dominant Epb41l1 (MGI:103010) -chr20 36236135 36256933 20q11.23 20q11.23 617365 AAR2, C20orf4 AAR2 splicing factor AAR2 25980 ENSG00000131043 Aar2 (MGI:1915545) -chr20 36306338 36528633 20q11.23 20q11.23 616191 DLGAP4, SAPAP4, KIAA0964 Discs LARGE-associated protein 4 DLGAP4 22839 ENSG00000080845 noncoding RNAs transcribed from intron 1 are expressed in all tissues Dlgap4 (MGI:2138865) -chr20 36541518 36551446 20q11.23 20q11.23 609905 MYL9, MLC2, MMIHS4 Myosin light chain 9, regulatory MYL9 10398 ENSG00000101335 mutation identified in 1 MMIHS4 patient ?Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, 619365 (3), Autosomal recessive Myl9 (MGI:2138915) -chr20 36573463 36593949 20q11.2-q12 20q11.23 607294 TGIF2 Transforming growth factor-beta-induced factor 2 TGIF2 60436 ENSG00000118707 Tgif2 (MGI:1915299) -chr20 36612317 36646206 20q11.23 20q11.23 606577 SLA2, SLAP2 SRC-like adaptor 2 SLA2 84174 ENSG00000101082 Sla2 (MGI:1925049) -chr20 36651765 36746126 20q11.21-q11.23 20q11.23 605273 NDRG3 N-myc downstream-regulated gene 3 NDRG3 57446 ENSG00000101079 Ndrg3 (MGI:1352499) -chr20 36751794 36773814 20q11.23 20q11.23 609175 DSN1, C20orf172 DSN1 homolog, MIS12 kinetochore complex component DSN1 79980 ENSG00000149636 Dsn1 (MGI:1914184) -chr20 36889772 36951707 20q11.2 20q11.23 606754 SAMHD1, AGS5, DCIP, CHBL2 SAM domain- and HD domain-containing protein 1 SAMHD1 25939 ENSG00000101347 mutation identified in 1 CHBL2 family ?Chilblain lupus 2, 614415 (3), Autosomal dominant; Aicardi-Goutieres syndrome 5, 612952 (3), Autosomal recessive Samhd1 (MGI:1927468) -chr20 36996348 37096028 20q11.2 20q11.23 116957 RBL1, CP107 Retinoblastoma-like 1 (p107) RBL1 5933 ENSG00000080839 Rbl1 (MGI:103300) -chr20 37179160 37241622 20q12-q13.1 20q11.23 180490 RPN2 Ribophorin II RPN2 6185 ENSG00000118705 Rpn2 (MGI:98085) -chr20 37251085 37261813 20q11.2 20q11.23 139190 GHRH, GHRF Growth hormone releasing hormone (somatocrinin) GHRH 2691 ENSG00000118702 Gigantism due to GHRF hypersecretion (1); ?Isolated growth hormone deficiency due to defect in GHRF (1) Ghrh (MGI:95709) -chr20 37344689 37406049 20q12-q13 20q11.23 190090 SRC, ASV, SRC1, THC6 Protooncogene SRC, Rous sarcoma SRC 6714 ENSG00000197122 mutation identified in 1 THC6 family ?Thrombocytopenia 6, 616937 (3), Autosomal dominant; Colon cancer, advanced, somatic, 114500 (3) Src (MGI:98397) -chr20 37517416 37527875 20q11.2-q12 20q11.23 613110 BLCAP, BC10 Bladder cancer-associated protein BLCAP 10904 ENSG00000166619 Blcap (MGI:1858907) -chr20 37521249 37523689 20q11.2-q12 20q11.23 603106 NNAT Neuronatin NNAT 4826 ENSG00000053438 Nnat (MGI:104716) -chr20 37694029 37872123 20q11.2-q12 20q11.23 611537 CTNNBL1, NAP Catenin, beta-like, 1 CTNNBL1 56259 ENSG00000132792 Ctnnbl1 (MGI:1913892) -chr20 37903103 37945349 20q11.23 20q11.23 616537 VSTM2L, C20orf102 V-SET and transmembrane domains-containing protein 2-like VSTM2L 128434 ENSG00000132821 Vstm2l (MGI:2685537) -chr20 37983013 38033460 20q11.23 20q11.23 614425 TTI1, KIAA0406 TELO2-interacting protein 1 TTI1 9675 ENSG00000101407 Tti1 (MGI:1922675) -chr20 38033461 38092365 20q11.23 20q11.23 614694 RPRD1B, CREPT Regulation of nuclear pre-mRNA domain-containing protein 1B RPRD1B 58490 ENSG00000101413 Rprd1b (MGI:1917720) -chr20 38127384 38166507 20q11.2-q12 20q11.23 190196 TGM2 Transglutaminase-2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) TGM2 7052 ENSG00000198959 Tgm2 (MGI:98731) -chr20 38304155 38337504 20q11.23-q12 20q11.23 109195 BPI Bactericidal/permeability-increasing protein BPI 671 ENSG00000101425 Bpi (MGI:3045315) -chr20 38346481 38377012 20q11.23-q12 20q11.23 151990 LBP Lipopolysaccharide-binding protein LBP 3929 ENSG00000129988 Lbp (MGI:1098776) -chr20 38446653 38450920 20q11.23 20q11.23 619494 SNHG11, LINC00101 Small nucleolar RNA host gene 11, noncoding SNHG11 128439 ENSG00000174365 -chr20 38472819 38578860 20q11.23 20q11.23 618833 RALGAPB Ral GTPase-activating protein, noncatalytic subunit beta RALGAPB 57148 ENSG00000170471 Ralgapb (MGI:2444531) -chr20 38581196 38588462 20q11.23 20q11.23 611396 ADIG, SMAF1 Adipogenin ADIG 149685 Adig (MGI:2675492) -chr20 38724485 38729371 20q11.23 20q11.23 616440 SLC32A1, VGAT, VIAAT Solute carrier family 32 (GABA vesicular transporter), member 1 SLC32A1 140679 ENSG00000101438 Slc32a1 (MGI:1194488) -chr20 38805693 38923023 20q11.22-q12 20q11.23 613275 PPP1R16B, TIMAP, KIAA0823 Protein phosphatase 1, regulatory subunit 16B PPP1R16B 26051 ENSG00000101445 Ppp1r16b (MGI:2151841) -chr20 38926416 38953105 20q11.23 20q11.23 618380 FAM83D, CHICA Family with sequence similarity 83, member D FAM83D 81610 ENSG00000101447 Fam83d (MGI:1919128) -chr20 39000000 47800000 20q12-q13.12 613938 PSMNSW Parasomnia, sleepwalking type 100653383 between 55.6 and 61.4 cM Parasomnia, sleepwalking type, 613938 (2), Autosomal dominant, Multifactorial -chr20 39000000 51200000 20q12-q13.1 603694 T2D3 Type 2 diabetes mellitus 3 50982 {Type 2 diabetes mellitus 3}, 603694 (2) -chr20 40004460 40008528 20q11.23 20q12 617038 LINC01370, HILNC25 Long intergenic noncoding RNA 1370 LINC01370 100505663 -chr20 40685847 40689235 20q11.2-q13.1 20q12 608968 MAFB, KRML, MCTO, DURS3 MAF bZIP transcription factor B MAFB 9935 ENSG00000204103 Duane retraction syndrome 3, 617041 (3), Autosomal dominant; Multicentric carpotarsal osteolysis syndrome, 166300 (3), Autosomal dominant Mafb (MGI:104555) -chr20 41028821 41124486 20q12-q13.1 20q12 126420 TOP1 Topoisomerase (DNA) I TOP1 7150 ENSG00000198900 pseudogenes on chr.1 and 22 DNA topoisomerase I, camptothecin-resistant (3) Top1 (MGI:98788) -chr20 41137518 41177625 20q12-q13.1 20q12 172420 PLCG1, PLC1 Phospholipase C, gamma 1 (formerly subtype 148) PLCG1 5335 ENSG00000124181 Plcg1 (MGI:97615) -chr20 41178449 41317730 20q12 20q12 609598 ZHX3, KIAA0395 Zinc finger and homeodomain protein-3 ZHX3 23051 ENSG00000174306 Zhx3 (MGI:2444772) -chr20 41340778 41360582 20q 20q12 605520 LPIN3 Lipin 3 LPIN3 64900 ENSG00000132793 Lpin3 (MGI:1891342) -chr20 41402082 41618376 20q11.23-q12 20q12 616114 CHD6, CHD5, RIGB Chromodomain helicase DNA-binding protein 6 CHD6 84181 ENSG00000124177 Chd6 (MGI:1918639) -chr20 42029958 43189905 20q12-q13.1 20q-q 608712 PTPRT, KIAA0283 Protein-tyrosine phosphatase, receptor-type, T PTPRT 11122 ENSG00000196090 Ptprt (MGI:1321152) -chr20 43100000 43500000 20q13.11 603388 GRD2 Graves disease, susceptibility to, 2 50976 {Graves disease, susceptibility to, 2}, 603388 (2) -chr20 43457892 43464242 20q13.11 20q13.11 601944 SRSF6, SFRS6, SRp55 Splicing factor, serine/arginine-rich, 6 SRSF6 6431 ENSG00000124193 Srsf6 (MGI:1915246) -chr20 43507696 43550953 20q12 20q13.12 608802 L3MBTL1, L3MBTL, KIAA0681 L3MBTL histone methyl-lysine-binding protein 1 L3MBTL1 26013 ENSG00000185513 L3mbtl1 (MGI:2676663) -chr20 43559026 43585626 20q13.2 20q13.12 607589 SGK2 Serum/glucocorticoid-regulated kinase 2 SGK2 10110 ENSG00000101049 Sgk2 (MGI:1351318) -chr20 43590936 43647298 20q13.12 20q13.12 617094 IFT52 Intraflagellar transport 52 IFT52 51098 ENSG00000101052 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3), Autosomal recessive Ift52 (MGI:2387217) -chr20 43667113 43716481 20q13.1 20q13.12 601415 MYBL2, BMYB v-myb avian myeloblastosis viral oncogene homolog-like 2 MYBL2 4605 ENSG00000101057 Mybl2 (MGI:101785) -chr20 43914851 44069615 20q13.12 20q13.12 611163 TOX2, GCX1, C20orf100 TOX high mobility group box family member 2 TOX2 84969 ENSG00000124191 Tox2 (MGI:3611233) -chr20 44106589 44187945 20q12 20q13.12 605267 JPH2, JP2, CMH17, CMD2E Junctophilin 2 JPH2 57158 ENSG00000149596 Cardiomyopathy, dilated, 2E, 619492 (3); Cardiomyopathy, hypertrophic, 17, 613873 (3), Autosomal dominant Jph2 (MGI:1891496) -chr20 44302839 44311201 20q13.12 20q13.12 612029 FIT2, C20orf142, SIDDIS Fat-inducing transcript 2 FITM2 128486 ENSG00000197296 Siddiqi syndrome, 618635 (3), Autosomal recessive Fitm2 (MGI:2444508) -chr20 44355698 44434595 20q12-q13.1 20q13.12 600281 HNF4A, TCF14, MODY1, FRTS4 Hepatocyte nuclear factor 4, alpha (transcription factor-14) HNF4A 3172 ENSG00000101076 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; MODY, type I, 125850 (3), Autosomal dominant Hnf4a (MGI:109128) -chr20 44496220 44522069 20q13.1-q13.3 20q13.12 607165 SERINC3, TDE1 Serine incorporator 3 SERINC3 10955 ENSG00000132824 Serinc3 (MGI:1349457) -chr20 44531874 44619036 20q 20q13.12 604932 PKIG Protein kinase, cAMP-dependent catalytic, inhibitor gamma PKIG 11142 ENSG00000168734 Pkig (MGI:1343086) -chr20 44619521 44651698 20q13.11 20q13.12 608958 ADA Adenosine deaminase ADA 100 ENSG00000196839 Adenosine deaminase deficiency, partial, 102700 (3), Autosomal recessive, Somatic mosaicism; Severe combined immunodeficiency due to ADA deficiency, 102700 (3), Autosomal recessive, Somatic mosaicism Ada (MGI:87916) -chr20 44714203 44728040 20q13.12 20q13.12 603399 CCN5, WISP2 Cellular communication network factor 5 CCN5 8839 ENSG00000064205 Ccn5 (MGI:1328326) -chr20 44745604 44752312 20q12-q13 20q13.12 607368 KCNK15, TASK5 Potassium channel, subfamily K, member 15 KCNK15 60598 ENSG00000124249 Kcnk15 (MGI:2675209) -chr20 44751807 44810545 20q13.3 20q13.12 611601 RIMS4 Protein regulating synaptic membrane exocytosis 4 RIMS4 140730 ENSG00000101098 Rims4 (MGI:2674366) -chr20 44885704 44908531 20q13.1 20q13.12 601289 YWHAB Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide YWHAB 7529 ENSG00000166913 Ywhab (MGI:1891917) -chr20 44942129 44960424 20q13.12 20q13.12 616049 TOMM34, TOM34 Translocase of outer mitochondrial membrane 34 TOMM34 10953 ENSG00000025772 Tomm34 (MGI:1914395) -chr20 44966469 45080020 20q13.2 20q13.12 604965 STK4, MST1, KRS2, TIIAC Serine/threonine protein kinase 4 STK4 6789 ENSG00000101109 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3) Stk4 (MGI:1929004) -chr20 45091213 45101126 20q13.12 20q13.12 602905 KCNS1, KV9.1 Potassium channel, voltage-gated, delayed-rectifier, subfamily S, member 1 KCNS1 3787 ENSG00000124134 Kcns1 (MGI:1197019) -chr20 45109458 45116320 20q12-q13.2 20q13.12 605161 WFDC5, PRG5, WAP1 WAP 4-disulfide core domain 5 WFDC5 149708 ENSG00000175121 Wfdc5 (MGI:2384800) -chr20 45123424 45124464 20q12-q13.1 20q13.12 609872 WFDC12, WAP2, SWAM2 Wap 4-disulfide core domain 12 WFDC12 128488 ENSG00000168703 Wfdc12 (MGI:2183434) -chr20 45174901 45176543 20q12-q13 20q13.12 182257 PI3 Protease inhibitor 3, skin derived (SKALP) PI3 5266 ENSG00000124102 -chr20 45207032 45209767 20q12-q13.1 20q13.12 182140 SEMG1, SEMG Semenogelin SEMG1 6406 ENSG00000124233 Semg1,Svs3a,Svs3b (MGI:3583778,MGI:1858275,MGI:1927635) -chr20 45221372 45224457 20q12-q13.1 20q13.12 182141 SEMG2 Semenogelin II SEMG2 6407 ENSG00000124157 Semg1,Svs3a,Svs3b (MGI:3583778,MGI:1858275,MGI:1927635) -chr20 45252238 45254563 20q13.12 20q13.12 107285 SLPI, HUSI Secretory leukocyte protease inhibitor SLPI 6590 ENSG00000124107 Slpi (MGI:109297) -chr20 45293445 45308565 20q13.1-q13.2 20q13.12 603897 MATN4 Matrilin 4 MATN4 8785 ENSG00000124159 Matn4 (MGI:1328314) -chr20 45306835 45319676 20q13.12 20q13.12 616104 RBPJL, RBPL, SUHL RBPJ-like protein RBPJL 11317 ENSG00000124232 Rbpjl (MGI:1196616) -chr20 45325287 45348423 20q12-q13 20q13.12 600017 SDC4 Syndecan 4 (amphiglycan, ryudocan) SDC4 6385 ENSG00000124145 Sdc4 (MGI:1349164) -chr20 45361948 45376797 20q13.12 20q13.12 612979 SYS1 SYS1 golgi trafficking protein SYS1 90196 ENSG00000204070 Sys1 (MGI:1913710) -chr20 45372556 45378549 20q13.12 20q13.12 617316 TP53TG5 TP53 target gene 5 TP53TG5 27296 ENSG00000124251 Trp53tg5 (MGI:1920853) -chr20 45405992 45410609 20q12 20q13.12 611453 DBNDD2, HSMNP1 Dysbindin domain-containing 2 DBNDD2 55861 ENSG00000244274 Dbndd2 (MGI:106562) -chr20 45416140 45426240 20q13.12 20q13.12 610272 PIGT, NDAP, PNH2, MCAHS3 Phosphatidylinositol glycan, class T PIGT 51604 ENSG00000124155 mutation identified in 1 PNH2 family ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3), Somatic mutation, Autosomal dominant; Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3), Autosomal recessive Pigt (MGI:1926178) -chr20 45469752 45481531 20q13.12 20q13.12 617548 WFDC2, HE4, WAP5 WAP 4-disulfide core domain 2 WFDC2 10406 ENSG00000101443 Wfdc2 (MGI:1914951) -chr20 45512460 45515621 20q12-q13.1 20q13.12 613941 SPINT3 Serin protease inhibitor, Kunitz-type, 3 SPINT3 10816 ENSG00000101446 Spint3 (MGI:3651470) -chr20 45540625 45547400 20q13.2 20q13.12 609031 EPPIN, SPINLW1, EPPIN, WAP7 Epididymal protease inhibitor EPPIN 57119 ENSG00000101448 Eppin (MGI:1922776) -chr20 45722346 45725829 20q13.1 20q13.12 619430 SPINT4 Serine peptidase inhibitor, Kunitz-type, 4 SPINT4 391253 ENSG00000149651 Spint4 (MGI:1925489) -chr20 45791953 45811418 20q13.12 20q13.12 611388 DNTTIP1, TDIF1, C20orf167 Deoxynucleotidyltransferase, terminal, interacting protein 1 DNTTIP1 116092 ENSG00000101457 Dnttip1 (MGI:1923483) -chr20 45812643 45816951 20q13.12 20q13.12 605574 UBE2C, UBCH10 Ubiquitin-conjugating enzyme E2C UBE2C 11065 ENSG00000175063 Ube2c (MGI:1915862) -chr20 45823213 45833328 20q12-q13.11 20q13.12 191039 TNNC2 Troponin C2, fast TNNC2 7125 ENSG00000101470 Tnnc2 (MGI:98780) -chr20 45833417 45843275 20q13.12 20q13.12 619200 SNX21, SNXL Sorting nexin family, member 21 SNX21 90203 ENSG00000124104 Snx21 (MGI:1917729) -chr20 45841720 45857404 20q13.1 20q13.12 608123 ACOT8, PTE1 Acyl-CoA thioesterase 8 ACOT8 10005 ENSG00000101473 Acot8 (MGI:2158201) -chr20 45886490 45890814 20q13.12 20q13.12 618936 SPATA25, TSG23, C20orf165 Spermatogenesis-associated protein 25 SPATA25 128497 ENSG00000149634 Spata25 (MGI:1922892) -chr20 45890143 45898819 20q13.1 20q13.12 613111 CTSA, PPGB, GSL, NGBE, GLB2 Cathepsin A (protective protein for beta-galactosidase) CTSA 5476 ENSG00000064601 Galactosialidosis, 256540 (3), Autosomal recessive Ctsa (MGI:97748) -chr20 45898619 45912154 20q12-q13.1 20q13.12 172425 PLTP, HDLCQ9 Phospholipid transfer protein PLTP 5360 ENSG00000100979 [High density lipoprotein cholesterol level QTL 9] (3) Pltp (MGI:103151) -chr20 45934673 45948022 20q13.12 20q13.12 618626 PCIF1, CAPAM, PPP1R121, C20orf67 phosphorylated C-terminal domain-interacting factor 1 PCIF1 63935 ENSG00000100982 Pcif1 (MGI:2443858) -chr20 45948652 45972909 20q11.2-q13.1 20q13.12 610827 ZNF335, NIF1, NIF2, MCPH10 Zinc finger protein 335 ZNF335 63925 ENSG00000198026 Microcephaly 10, primary, autosomal recessive, 615095 (3), Autosomal recessive Zfp335 (MGI:2682313) -chr20 46008907 46016560 20q11.2-q13.1 20q13.12 120361 MMP9, CLG4B, MANDP2 Matrix metalloproteinase 9 (gelatinase B, 92kD type IV collagenase) MMP9 4318 ENSG00000100985 Metaphyseal anadysplasia 2, 613073 (3) Mmp9 (MGI:97011) -chr20 46021685 46060149 20q12-q13.1 20q13.12 606726 SLC12A5, KCC2, KIAA1176, DEE34, EIG14 Solute carrier family 12, (potassium-chloride transporter) member 5 SLC12A5 57468 ENSG00000124140 {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3), Autosomal dominant; Developmental and epileptic encephalopathy 34, 616645 (3), Autosomal recessive Slc12a5 (MGI:1862037) -chr20 46060990 46089961 20q13.1 20q13.12 616825 NCOA5, CIA Nuclear receptor coactivator 5 NCOA5 57727 ENSG00000124160 Ncoa5 (MGI:2385165) -chr20 46118241 46129857 20q12-q13.2 20q13.12 109535 CD40, TNFRSF5 CD40 antigen CD40 958 ENSG00000101017 Immunodeficiency with hyper-IgM, type 3, 606843 (3), Autosomal recessive Cd40 (MGI:88336) -chr20 46173732 46308497 20q13.1 20q13.12 609920 CDH22 Cadherin 22 CDH22 64405 ENSG00000149654 Cdh22 (MGI:1341843) -chr20 46366049 46407050 20q13 20q13.12 606421 ELMO2, CED12, VMPI Engulfment and cell motility gene 2 ELMO2 63916 ENSG00000062598 Vascular malformation, primary intraosseous, 606893 (3), Autosomal recessive Elmo2 (MGI:2153045) -chr20 46557827 46684484 20q12-q13.1 20q13.12 606411 SLC13A3, NADC3, ARLIAK Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 SLC13A3 64849 ENSG00000158296 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, 618384 (3), Autosomal recessive Slc13a3 (MGI:2149635) -chr20 46684364 46689443 20q13.12 20q13.12 608679 TP53RK, PRPK, GAMOS4 TP53-regulating kinase TP53RK 112858 ENSG00000172315 Galloway-Mowat syndrome 4, 617730 (3), Autosomal recessive Trp53rkb,Trp53rka (MGI:1918294,MGI:1914050) -chr20 46708357 46736346 20q13.1 20q13.12 606145 SLC2A10, GLUT10, ATORS Solute carrier family 2 (facilitated glucose transporter), member 10 SLC2A10 81031 ENSG00000197496 Arterial tortuosity syndrome, 208050 (3), Autosomal recessive Slc2a10 (MGI:2156687) -chr20 46894842 47188843 20q13.1 20q13.12 601654 EYA2 EYA transcriptional coactivator and phosphatase 2 EYA2 2139 ENSG00000064655 Eya2 (MGI:109341) -chr20 47209213 47356698 20q13.12 20q13.12 615713 ZMYND8, PRKCBP1 Zinc finger MYND domain-containing protein 8 ZMYND8 23613 ENSG00000101040 Zmynd8 (MGI:1918025) -chr20 47501886 47656871 20q12 20q13.12 601937 NCOA3, AIB1, TNRC14 Nuclear receptor coactivator 3 (amplified in breast cancer-1) NCOA3 8202 ENSG00000124151 Ncoa3 (MGI:1276535) -chr20 47657405 47786626 20q13.12 20q13.12 610013 SULF2, KIAA1247 Sulfatase 2 SULF2 55959 ENSG00000196562 Sulf2 (MGI:1919293) -chr20 48624251 48827998 20q13.13 20q13.13 606905 PREX1, KIAA1415 Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 PREX1 57580 ENSG00000124126 Prex1 (MGI:3040696) -chr20 48921710 49036692 20q13.13 20q13.13 605371 ARFGEF2, BIG2, PVNH2 ADP-ribosylation factor guanine nucleotide-exchange factor 2, brefeldin A-inhibited ARFGEF2 10564 ENSG00000124198 Periventricular heterotopia with microcephaly, 608097 (3), Autosomal recessive Arfgef2 (MGI:2139354) -chr20 49046311 49096948 20q13 20q13.13 601342 CSE1L, CAS Chromosome segregation-1, yeast, homolog of, like CSE1L 1434 ENSG00000124207 Cse1l (MGI:1339951) -chr20 49113338 49219294 20q13.1 20q13.13 601716 STAU1, STAU Staufen, Drosophila, homolog of, 1 STAU1 6780 ENSG00000124214 Stau1 (MGI:1338864) -chr20 49219415 49244072 20q13.13 20q13.13 616621 DDX27, RHLP DEAD-box helicase 27 DDX27 55661 ENSG00000124228 Ddx27 (MGI:2385884) -chr20 49245899 49278056 20q13.13 20q13.13 618931 ZNFX1 Zincfinger NFX1-type domain-containing protein 1 ZNFX1 57169 ENSG00000124201 Znfx1 (MGI:2138982) -chr20 49363876 49484032 20q13.2 20q13.13 600397 KCNB1, DEE26 Potassium voltage-gated channel, Shab-related subfamily, member 1 KCNB1 3745 ENSG00000158445 Developmental and epileptic encephalopathy 26, 616056 (3), Autosomal dominant Kcnb1 (MGI:96666) -chr20 49503873 49568136 20q13.11-q13.13 20q13.13 601699 PTGIS, CYP8A1, PGIS, CYP8 Prostaglandin I2 synthase PTGIS 5740 ENSG00000124212 Hypertension, essential, 145500 (3), Multifactorial Ptgis (MGI:1097156) -chr20 49632944 49713877 20q13.1-q13.2 20q13.13 604016 B4GALT5 Beta-1,4-galactosyltransferase 5 B4GALT5 9334 ENSG00000158470 previously mapped to chr.11 B4galt5 (MGI:1927169) -chr20 49812827 49892241 20q13.13 20q13.13 612730 SLC9A8, NHE8, KIAA0939 Solute carrier family 9 (sodium/hydrogen exchanger), member 8 SLC9A8 23315 ENSG00000197818 Slc9a8 (MGI:1924281) -chr20 49903390 49915528 20q13.1-q13.2 20q13.13 607662 SPATA2, KIAA0757 Spermatogenesis-associated protein 2 SPATA2 9825 ENSG00000158480 Spata2 (MGI:2146885) -chr20 49936396 49953884 20q13 20q13.13 612451 RNF114, ZNF313 Ring finger protein 114 RNF114 55905 ENSG00000124226 Rnf114 (MGI:1933159) -chr20 49982979 49988885 20q13.1 20q13.13 604238 SNAI1 Snail 1, Drosophila, homolog of SNAI1 6615 ENSG00000124216 pseudogene on 2q34 Snai1 (MGI:98330) -chr20 50081123 50115956 20q13.2 20q13.13 602995 UBE2V1, UEV1 Ubiquitin-conjugating enzyme E2 variant 1 UBE2V1 7335 ENSG00000244687 Ube2v1 (MGI:1913839) -chr20 50118253 50153722 20q13.2 20q13.13 610994 TMEM189, KUA Transmembrane protein 189 PEDS1 387521 ENSG00000240849 Peds1 (MGI:2142624) -chr20 50190582 50192689 20q13.1 20q13.13 189965 CEBPB, TCF5 CCAAT/enhancer-binding protein (C/EBP), beta (transcription factor-5) CEBPB 1051 ENSG00000172216 Cebpb (MGI:88373) -chr20 50510382 50585240 20q13.1-q13.2 20q13.13 176885 PTPN1, PTP1B Protein tyrosine phosphatase, nonreceptor-type, 1 PTPN1 5770 ENSG00000196396 20pter-q12 by REa {Insulin resistance, susceptibility to}, 125853 (3), Autosomal dominant Ptpn1 (MGI:97805) -chr20 50731579 50753740 20q13.13 20q13.13 608975 PARD6B PAR6 family cell polarity regulator beta PARD6B 84612 ENSG00000124171 Pard6b (MGI:2135605) -chr20 50794893 50877735 20q13.13 20q13.13 607471 BCAS4 Breast carcinoma amplified sequence 4 BCAS4 55653 ENSG00000124243 -chr20 50888917 50931436 20q13.13 20q13.13 611386 ADNP, ADNP1, KIAA0784, HVDAS, MRD28 Activity-dependent neuroprotector homeobox ADNP 23394 ENSG00000101126 Helsmoortel-van der Aa syndrome, 615873 (3), Autosomal dominant Adnp (MGI:1338758) -chr20 50934854 50958563 20q13.13 20q13.13 603503 DPM1, MPDS, CDGIE Dolichyl-phosphate mannosyltransferase 1, catalytic subunit DPM1 8813 ENSG00000000419 Congenital disorder of glycosylation, type Ie, 608799 (3), Autosomal recessive Dpm1 (MGI:1330239) -chr20 50958817 50963928 20q13.13 20q13.13 609277 MOCS3 Molybdenum cofactor synthesis 3 MOCS3 27304 ENSG00000124217 Mocs3 (MGI:1916622) -chr20 51003655 51023175 20q13 20q13.13 603788 KCNG1, KH2 Potassium voltage-gated channel, subfamily G, member 1 KCNG1 3755 ENSG00000026559 Kcng1 (MGI:3616086) -chr20 51200000 64444167 20q13.2-q13.3 610248 DFNB65 Deafness, autosomal recessive 65 692219 max lod at D20S840 Deafness, autosomal recessive 65, 610248 (2), Autosomal recessive -chr20 51200000 64444167 20q13.2-q13.3 130180 EEGV1, EEGL Electroencephalographic variant pattern 1 1940 Electroencephalographic variant pattern 1, 130180 (2), Autosomal dominant -chr20 51386962 51562856 20q13.2-q13.3 20q13.2 600490 NFATC2, NFATP Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 2 NFATC2 4773 ENSG00000101096 Nfatc2 (MGI:102463) -chr20 51782330 51802520 20q13.13-q13.2 20q13.2 607343 SALL4, HSAL4, DRRS, IVIC sal-like 4 SALL4 57167 ENSG00000101115 mutation identified in 1 IVIC family ?IVIC syndrome, 147750 (3), Autosomal dominant; Duane-radial ray syndrome, 607323 (3), Autosomal dominant Sall4 (MGI:2139360) -chr20 52084010 52191788 20q13.2 20q13.2 618111 ZFP64, ZNF338 Zinc finger protein 64 ZFP64 55734 ENSG00000020256 Zfp64 (MGI:107342) -chr20 52972308 53495329 20q13.2 20q13.2 614118 TSHZ2 Teashirt zinc finger homeobox 2 TSHZ2 128553 ENSG00000182463 Tshz2 (MGI:2153084) -chr20 53567064 53608968 20q13.2 20q13.2 602967 ZNF217 Zinc finger protein-217 ZNF217 7764 ENSG00000171940 Zfp217 (MGI:2685408) -chr20 53943540 54070593 20q13.2 20q13.2 602968 BCAS1, NABC1 Breast carcinoma amplified sequence BCAS1 8537 ENSG00000064787 Bcas1 (MGI:1924210) -chr20 54145730 54174031 20q13.2-q13.3 20q13.2 126065 CYP24A1, CYP24, HCINF1 Cytochrome P450, family 24, subfamily A, polypeptide 1 (vitamin D 24-hydroxylase) CYP24A1 1591 ENSG00000019186 Hypercalcemia, infantile, 1, 143880 (3), Autosomal recessive Cyp24a1 (MGI:88593) -chr20 54208086 54219960 20q13.2 20q13.2 604898 PFDN4, C1 Prefoldin 4 PFDN4 5203 ENSG00000101132 Pfdn4 (MGI:1923512) -chr20 54475592 54651170 20q13.2 20q13.2 608334 DOK5 Docking protein 5 DOK5 55816 ENSG00000101134 Dok5 (MGI:1924079) -chr20 55997356 56005518 20q13.2 20q13.2 615029 CBLN4 Precerebellin 4 CBLN4 140689 ENSG00000054803 Cbln4 (MGI:2154433) -chr20 56248731 56249814 20q13.2 20q13.2 155540 MC3R, BMIQ9 Melanocortin-3 receptor MC3R 4159 ENSG00000124089 {Obesity, severe, susceptibility to, BMIQ9}, 602025 (3) Mc3r (MGI:96929) -chr20 56358973 56368662 20q13.2 20q13.2 618722 FAM210B, C20orf108 Family with sequence similarity 210, member B FAM210B 116151 ENSG00000124098 Fam210b (MGI:1914267) -chr20 56369389 56392307 20q13.2-q13.3 20q13.2 603072 AURKA, STK15, AURORA2, BTAK, ARK1, STK6, AIK Aurora kinase A AURKA 6790 ENSG00000087586 {Colon cancer, susceptibility to}, 114500 (3), Somatic mutation, Autosomal dominant Aurka (MGI:894678) -chr20 56392378 56406361 20q13.2 20q-q 600369 CSTF1 Cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD CSTF1 1477 ENSG00000101138 Cstf1 (MGI:1914587) -chr20 56400000 64444167 20q13.31-q13.33 612929 MTBS3 Mycobacterium tuberculosis, susceptibility to, 3 100302686 associated with rs3827103 {Mycobacterium tuberculosis, susceptibility to, 3}, 612929 (2) -chr20 56411549 56460381 20q13.31 20q13.31 618888 CASS4, HEPL, C20orf32 CAS scaffold protein family, member 4 CASS4 57091 ENSG00000087589 Cass4 (MGI:2444482) -chr20 56629305 56639282 20q13.2 20q13.31 601602 TFAP2C Transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma) TFAP2C 7022 ENSG00000087510 Tfap2c (MGI:106032) -chr20 57168752 57266640 20q13.1-q13.3 20q13.31 112267 BMP7 Bone morphogenetic protein-7 (osteogenic protein-1) BMP7 655 ENSG00000101144 Bmp7 (MGI:103302) -chr20 57329756 57343992 20q13.2-q13.3 20q13.31 605114 SPO11 Spo11, S. cerevisiae, homolog of SPO11 23626 ENSG00000054796 Spo11 (MGI:1349669) -chr20 57351238 57379201 20q13.31 20q13.31 603343 RAE1, MRNP41 Ribonucleic acid export protein 1 RAE1 8480 ENSG00000101146 Rae1 (MGI:1913929) -chr20 57391395 57409332 20q13.31 20q13.31 612428 RBM38, RNPC1 RNA-binding motif protein 38 RBM38 55544 ENSG00000132819 Rbm38 (MGI:1889294) -chr20 57495964 57525651 20q13.2 20q13.31 607022 CTCFL, BORIS CCCTC-binding factor-like protein CTCFL 140690 ENSG00000124092 Ctcfl (MGI:3652571) -chr20 57561109 57568120 20q13.31 20q13.31 614168 PCK1, PCKDC Phosphoenolpyruvate carboxykinase-1 (soluble) PCK1 5105 ENSG00000124253 mutation identified in 1 PCKDC family ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3), Autosomal recessive Pck1 (MGI:97501) -chr20 57603851 57620479 20q13.31 20q13.31 606750 ZBP1, C20orf183, DLM1 Z-DNA binding protein 1 (tumor stroma and activated macrophage protein DLM1) ZBP1 81030 ENSG00000124256 Zbp1 (MGI:1927449) -chr20 57648395 57711471 20q13 20q13.31 606564 PMEPA1, TMEPAI Prostate transmembrane protein, androgen-induced PMEPA1 56937 ENSG00000124225 Pmepa1 (MGI:1929600) -chr20 58150901 58161149 20q13.32 20q13.32 619277 C20orf85, LLC1 Chromosome 20 open reading frame 85 C20orf85 128602 ENSG00000124237 1700021F07Rik (MGI:1919471) -chr20 58309714 58367506 20q13.3 20q13.32 612966 RAB22A Ras-associated protein RAB22A RAB22A 57403 ENSG00000124209 Rab22a (MGI:105072) -chr20 58389210 58451100 20q13.3 20q13.32 605704 VAPBC, VAPB, VAPC, ALS8 VAMP-associated protein B and C VAPB 9217 ENSG00000124164 Spinal muscular atrophy, late-onset, Finkel type, 182980 (3), Autosomal dominant; Amyotrophic lateral sclerosis 8, 608627 (3), Autosomal dominant Vapb (MGI:1928744) -chr20 58651282 58679525 20q13.32 20q13.32 603666 STX16, SYN16 Syntaxin 16 STX16 8675 ENSG00000124222 Pseudohypoparathyroidism, type IB, 603233 (3), Autosomal dominant Stx16 (MGI:1923396) -chr20 58817614 58817693 20q13.3 20q13.32 610945 MIR296, MIRN296 Micro RNA 296 MIR296 407022 ENSG00000284040 Mir296 (MGI:3619269) -chr20 58818225 58818312 20q13.32 20q13.32 614914 MIR298 Micro RNA 298 MIR298 100126296 ENSG00000216031 Mir298 (MGI:3619321) -chr20 58818917 58850902 20q13.2 20q13.32 610540 GNASAS1, GNASAS, SANG, NESPAS GNAS antisense RNA 1 GNAS-AS1 149775 ENSG00000235590 Pseudohypoparathyroidism, type IB, 603233 (3), Autosomal dominant Gnasas1 (MGI:1861674) -chr20 58839680 58911191 20q13.2 20q13.32 139320 GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3 GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1) GNAS 2778 ENSG00000087460 ACTH-independent macronodular adrenal hyperplasia, 219080 (3), Somatic mutation; Pituitary adenoma 3, multiple types, somatic, 617686 (3); Pseudohypoparathyroidism Ic, 612462 (3), Autosomal dominant; Pseudohypoparathyroidism Ia, 103580 (3), Autosomal dominant; Osseous heteroplasia, progressive, 166350 (3), Autosomal dominant; Pseudohypoparathyroidism Ib, 603233 (3), Autosomal dominant; McCune-Albright syndrome, somatic, mosaic, 174800 (3); Pseudopseudohypoparathyroidism, 612463 (3), Autosomal dominant Gnas (MGI:95777) -chr20 58981251 58995132 20q13 20q13.32 605297 NELFCD, TH1L, TH1 Negative elongation factor complex member C/D NELFCD 51497 ENSG00000101158 Nelfcd (MGI:1926424) -chr20 58995184 59007253 20q13 20q13.32 603169 CTSZ Cathepsin Z CTSZ 1522 ENSG00000101160 Ctsz (MGI:1891190) -chr20 59016025 59026653 20q13.3 20q13.32 612901 TUBB1 Tubulin, beta-1 TUBB1 81027 ENSG00000101162 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3), Autosomal dominant Tubb1 (MGI:107814) -chr20 59025474 59032334 20q13.3 20q13.32 606153 ATP5E, MC5DN3 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit ATP5F1E 514 ENSG00000124172 pseudogene on 4q25; mutation identified in 1 MC5DN3 patient ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3), Autosomal recessive Atp5e (MGI:1855697) -chr20 59300414 59325991 20q13.2-q13.3 20q13.32 131242 EDN3, WS4B, HSCR4 Endothelin-3 EDN3 1908 ENSG00000124205 Waardenburg syndrome, type 4B, 613265 (3), Autosomal dominant, Autosomal recessive; {Hirschsprung disease, susceptibility to, 4}, 613712 (3), Autosomal dominant Edn3 (MGI:95285) -chr20 59577496 59849828 20q13.32 20q13.32-q13.33 608725 PHACTR3, SCAPININ Phosphatase and actin regulator 3 PHACTR3 116154 ENSG00000087495 Phactr3 (MGI:1921439) -chr20 59700000 64444167 20q13 608878 GEVQ2 Gene expression, variation in, quantitative trait locus on chromosome 20 474333 {Gene expression, variation in, QTL}, 608878 (2) -chr20 59700000 64444167 20q13.33 613031 GLM6 Glioma susceptibility 6 100415895 associated with rs6010620 {Glioma susceptibility 6}, 613031 (2) -chr20 59700000 64444167 20q13 608656 HPC3 Prostate cancer, hereditary, 3 408259 {Prostate cancer, susceptibility to, 3}, 608656 (2) -chr20 59700000 64444167 20q13 612566 IBD24 Inflammatory bowel disease 24 100270798 associated with rs2315008 and rs4809330 {Inflammatory bowel disease 24}, 612566 (2) -chr20 59700000 64444167 20q13 612950 PSORS12 Psoriasis susceptibility 12 associated with rs495337 {Psoriasis susceptibility 12}, 612950 (2) -chr20 59700000 64444167 20q13 610066 SLEB8 Systemic lupus erythematosus, susceptibility to, 8 100188804 {Systemic lupus erythematosus, susceptibility to, 8}, 610066 (2) -chr20 59863276 59933699 20q13.33 20q13.33 604105 SYCP2, SCP2, SPGF1 Synaptonemal complex protein 2 SYCP2 10388 ENSG00000196074 Spermatogenic failure 1, 258150 (3), Autosomal recessive Sycp2 (MGI:1933281) -chr20 59936662 59940304 20q13.3 20q13.33 603326 PPP1R3D, PPP1R6 Protein phosphatase 1, regulatory subunit 3D PPP1R3D 5509 ENSG00000132825 Ppp1r3d (MGI:1917664) -chr20 59957763 60037970 20q13.33 20q13.33 617685 CDH26 Cadherin 26 CDH26 60437 ENSG00000124215 Cdh26 (MGI:2685856) -chr20 61252260 61940616 20q13.3 20q13.33 603006 CDH4 Cadherin 4 CDH4 1002 ENSG00000179242 Cdh4 (MGI:99218) -chr20 61974797 62065880 20q13.33 20q13.33 601796 TAF4, TAF2C1, TAFII130, TAF2C TAF4 RNA polymerase II, TATA box-binding protein-associated factor, 135kD TAF4 6874 ENSG00000130699 Taf4 (MGI:2152346) -chr20 62136732 62143393 20q13.33 20q13.33 606607 PSMA7 Proteasome subunit, alpha-type, 7 PSMA7 5688 ENSG00000101182 Psma7 (MGI:1347070) -chr20 62143764 62182513 20q13.3 20q13.33 606472 SS18L1, KIAA0693, CREST SS18L1 subunit of BAF chromatin remodeling complex SS18L1 26039 ENSG00000184402 Ss18l1 (MGI:2444061) -chr20 62183027 62203567 20q13.33 20q13.33 610919 GTPBP5, OBGH1 GTP-binding protein 5 MTG2 26164 ENSG00000101181 Mtg2 (MGI:106565) -chr20 62213844 62220277 20q13.33 20q13.33 604525 HRH3, GPCR97 Histamine receptor H3 HRH3 11255 ENSG00000101180 Hrh3 (MGI:2139279) -chr20 62238520 62296182 20q 20q13.33 606731 OSBPL2, ORP2, KIAA0772, DNFA67 Oxysterol-binding protein-like protein 2 OSBPL2 9885 ENSG00000130703 Deafness, autosomal dominant 67, 616340 (3), Autosomal dominant Osbpl2 (MGI:2442832) -chr20 62302060 62308861 20q13.33 20q13.33 610650 ADRM1, ARM1, RPN13 Adhesion-regulating molecule 1 ADRM1 11047 ENSG00000130706 Adrm1 (MGI:1929289) -chr20 62309059 62367317 20q13.2-q13.3 20q13.33 601033 LAMA5 Laminin, alpha-5 LAMA5 3911 ENSG00000130702 Lama5 (MGI:105382) -chr20 62386274 62388519 20q13.3 20q13.33 180477 RPS21 Ribosomal protein S21 RPS21 6227 ENSG00000171858 Rps21 (MGI:1913731) -chr20 62388633 62407284 20q13.33 20q13.33 618772 CABLES2, C20orf150 CDK5 and ABL enzyme substrate 3 CABLES2 81928 ENSG00000149679 Cables2 (MGI:2182335) -chr20 62463496 62475994 20q13.2-q13.3 20q13.33 611496 GATA5, CHTD5 GATA-binding protein 5 GATA5 140628 ENSG00000130700 Congenital heart defects, multiple types, 5, 617912 (3), Autosomal dominant, Autosomal recessive Gata5 (MGI:109497) -chr20 62554305 62554375 20q13.33 20q13.33 609326 MIR1-1 Micro RNA 1-1 MIR1-1 406904 ENSG00000199017 Mir1a-1 (MGI:2676869) -chr20 62564911 62565012 20q13.33 20q13.33 610255 MIR133A2 Micro RNA 133A2 MIR133A2 406923 ENSG00000284508 Mir133a-2 (MGI:3618718) -chr20 62642057 62690721 20q13.33 20q13.33 612436 SLCO4A1, OATPE, OATP4A1 Solute carrier organic anion transporter family, member 4A1 SLCO4A1 28231 ENSG00000101187 Slco4a1 (MGI:1351866) -chr20 62708769 62762770 20q13 20q13.33 162651 NTSR1 Neurotensin receptor NTSR1 4923 ENSG00000101188 Ntsr1 (MGI:97386) -chr20 62796472 62801728 20q13.33 20q13.33 611157 MRGBP, C20orf20 MRG/MORF4L-binding protein MRGBP 55257 ENSG00000101189 Mrgbp (MGI:1920497) -chr20 62804834 62813999 20q13.33 20q13.33 606459 OGFR Opioid growth factor receptor OGFR 11054 ENSG00000060491 Ogfr (MGI:1919325) -chr20 62817049 62841158 20q13.3 20q13.33 120270 COL9A3, EDM3, IDD Collagen IX, alpha-3 polypeptide COL9A3 1299 ENSG00000092758 {Intervertebral disc disease, susceptibility to}, 603932 (3); Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3), Autosomal dominant Col9a3 (MGI:894686) -chr20 62841004 62861821 20q13.33 20q13.33 604745 TCFL5 Transcription factor-like 5 TCFL5 10732 ENSG00000101190 Tcfl5 (MGI:2672878) -chr20 62877742 62937932 20q13.33 20q13.33 604140 DATF1, DIO1 Death-associated transcription factor 1 DIDO1 11083 ENSG00000101191 Dido1 (MGI:1344352) -chr20 62938146 62948474 20q13.33 20q13.33 611625 GID8, C20orf11, TWA1 GID complex, subunit 8 GID8 54994 ENSG00000101193 Gid8 (MGI:1923675) -chr20 62952689 62969584 20q13.3 20q13.33 612107 SLC17A9, C20orf59, POROK8 Solute carrier family 17, member 9 SLC17A9 63910 ENSG00000101194 Porokeratosis 8, disseminated superficial actinic type, 616063 (3), Autosomal dominant Slc17a9 (MGI:1919107) -chr20 63005926 63006963 20q13 20q13.33 609331 BHLHE23, BHLHB4 Basic helix-loop-helix family, member E23 BHLHE23 128408 ENSG00000125533 Bhlhe23 (MGI:2153710) -chr20 63095492 63102318 20q13.33 20q13.33 610557 HAR1B, HAR1R Highly accelerated region gene 1B HAR1B 768097 ENSG00000231133 -chr20 63101291 63104385 20q13.33 20q13.33 610556 HAR1A, HAR1F Highly accelerated region gene 1A HAR1A 768096 -chr20 63195428 63216130 20q13.33 20q13.33 616529 YTHDF1 YTH N6-methyladenosine RNA-binding protein 1 YTHDF1 54915 ENSG00000149658 Ythdf1 (MGI:1917431) -chr20 63235904 63240494 20q13.3 20q13.33 605737 BIRC7, MLIAP, KIAP, LIVIN Baculoviral IAP repeat-containing protein 7 BIRC7 79444 ENSG00000101197 Birc7 (MGI:2676458) -chr20 63240779 63256405 20q13.33 20q13.33 612873 NKAIN4 Na+/K+ transporting ATPase-interacting 4 NKAIN4 128414 ENSG00000101198 Nkain4 (MGI:1915372) -chr20 63272812 63289789 20q13.33 20q13.33 608377 ARFGAP1 ADP-ribosylation factor GTPase-activating protein 1 ARFGAP1 55738 ENSG00000101199 Arfgap1 (MGI:2183559) -chr20 63293168 63334846 20q13.33 20q13.33 619390 COL20A1, KIAA1510 Collagen, type XX, alpha-1 COL20A1 57642 ENSG00000101203 Col20a1 (MGI:1920618) -chr20 63343222 63375470 20q13.2-q13.3 20q13.33 118504 CHRNA4, ENFL1 Cholinergic receptor, nicotinic, alpha polypeptide-4 CHRNA4 1137 ENSG00000101204 {Nicotine addiction, susceptibility to}, 188890 (3); Epilepsy, nocturnal frontal lobe, 1, 600513 (3), Autosomal dominant Chrna4 (MGI:87888) -chr20 63400207 63472654 20q13.3 20q13.33 602235 KCNQ2, EBN1, DEE7, BFNS1 Potassium voltage-gated channel, KQT-like subfamily, member 2 KCNQ2 3785 ENSG00000075043 Developmental and epileptic encephalopathy 7, 613720 (3), Autosomal dominant; Seizures, benign neonatal, 1, 121200 (3), Autosomal dominant; Myokymia, 121200 (3), Autosomal dominant Kcnq2 (MGI:1309503) -chr20 63488013 63499082 20q13 20q13.33 602959 EEF1A2, DEE33, MRD38 Eukaryotic translation elongation factor-1, alpha-2 EEF1A2 1917 ENSG00000101210 Mental retardation, autosomal dominant 38, 616393 (3), Autosomal dominant; Developmental and epileptic encephalopathy 33, 616409 (3), Autosomal dominant Eef1a2 (MGI:1096317) -chr20 63528000 63537375 20q13.3 20q13.33 602004 PTK6, BRK Protein-tyrosine kinase 6 PTK6 5753 ENSG00000101213 Ptk6 (MGI:99683) -chr20 63538488 63547748 20q13.33 20q13.33 617797 SRMS, C20orf148 Src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites SRMS 6725 ENSG00000125508 Srms (MGI:101865) -chr20 63558085 63574238 20q13.3 20q13.33 611265 PRIC285, PDIP1, KIAA1769 Peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285kD subunit HELZ2 85441 ENSG00000130589 Helz2 (MGI:2385169) -chr20 63587601 63627100 20q13.33 20q13.33 607451 GMEB2, KIAA1269 Glucocorticoid modulatory element-binding protein 2 GMEB2 26205 ENSG00000101216 Gmeb2 (MGI:2652836) -chr20 63639711 63653423 20q13.3 20q13.33 608362 STMN3, SCLIP Stathmin-like 3 STMN3 50861 ENSG00000197457 Stmn3 (MGI:1277137) -chr20 63657809 63696252 20q13.3 20q13.33 608833 RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3 Regulator of telomere elongation helicase 1 RTEL1 51750 ENSG00000258366 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3), Autosomal dominant; Dyskeratosis congenita, autosomal dominant 4, 615190 (3), Autosomal dominant, Autosomal recessive; Dyskeratosis congenita, autosomal recessive 5, 615190 (3), Autosomal dominant, Autosomal recessive Rtel1 (MGI:2139369) -chr20 63696651 63698683 20q13 20q13.33 603361 TNFRSF6B, DCR3 Tumor necrosis factor receptor superfamily, member 6b (decoy receptor 3) TNFRSF6B 8771 ENSG00000243509 -chr20 63698646 63707975 20q13.33 20q13.33 604699 ARFRP1, ARP ADP-ribosylation factor-related protein 1 ARFRP1 10139 ENSG00000101246 Arfrp1 (MGI:1923938) -chr20 63735700 63739102 20q13.3 20q13.33 609809 LIME1, LIME LCK-interacting transmembrane adaptor 1 LIME1 54923 ENSG00000203896 Lime1 (MGI:1919949) -chr20 63739775 63744049 20q13.33 20q13.33 609493 SLC2A4RG, GEF, HDBP1 SLC2A4 regulator SLC2A4RG 56731 ENSG00000125520 -chr20 63743669 63832331 20q13.33 20q13.33 614639 ZBTB46, BZEL Zinc finger- and BTB domain-containing protein 46 ZBTB46 140685 ENSG00000130584 Zbtb46 (MGI:1919397) -chr20 63865246 63891537 20q13.2-q13.3 20q13.33 603747 TPD52L2 Tumor protein D52-like 2 TPD52L2 7165 ENSG00000101150 Tpd52l2 (MGI:1913564) -chr20 63895125 63936025 20q13.33 20q13.33 611203 DNAJC5, DNAJC5A, CSP, CLN4B DNAJ/HSP40 homolog, subfamily C, member 5 DNAJC5 80331 ENSG00000101152 Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant, 162350 (3), Autosomal dominant Dnajc5 (MGI:892995) -chr20 63939828 63956446 20q13.33 20q13.33 610866 UCKL1, UCK1L, URKL1 Uridine/cytidine kinase-like 1 UCKL1 54963 ENSG00000198276 Uckl1 (MGI:1915806) -chr20 63956702 63969929 20q13.33 20q13.33 617886 ZNF512B, KIAA1196 Zinc finger protein 512B ZNF512B 57473 ENSG00000196700 Zfp512b (MGI:2685478) -chr20 63981131 64033099 20q13.33 20q13.33 613979 PRPF6, PRP6, ANT1, TOM, C20orf14 Pre-mRNA processing factor 6 PRPF6 24148 ENSG00000101161 Retinitis pigmentosa 60, 613983 (3), Autosomal dominant Prpf6 (MGI:1922946) -chr20 64042349 64072346 20q13.33 20q13.33 604784 TCEA2 Transcription elongation factor A2 TCEA2 6919 ENSG00000171703 Tcea2 (MGI:107368) -chr20 64047581 64049638 20q13.33 20q13.33 601618 SOX18, HLTS, HLTRS SOX18, mouse, homolog of SOX18 54345 ENSG00000203883 Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3), Autosomal recessive; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3), Autosomal dominant Sox18 (MGI:103559) -chr20 64073180 64080003 20q13.3 20q13.33 605071 RGS19, GAIP Regulator of G protein signaling 19 RGS19 10287 ENSG00000171700 Rgs19 (MGI:1915153) -chr20 64080081 64100642 20q13.33 20q13.33 602548 OPRL1, NOP Opioid receptor-like 1 OPRL1 4987 ENSG00000125510 Oprl1 (MGI:97440) -chr20 64103801 64107564 20q13.3 20q13.33 600731 GPR8 G protein-coupled receptor-8 NPBWR2 2832 ENSG00000125522 related sequence on 14 -chr20 64164451 64242252 20q13.3 20q13.33 600379 MYT1, PLPB1 Myelin transcription factor 1 MYT1 4661 ENSG00000196132 Myt1 (MGI:1100535) -chr20 0 64444167 Chr.20 151310 HTL, LEUT, HLT Leucine transport, high 3343 -chr21 0 15000000 21p13-q11 610838 AUTS12 Autism, susceptibility to, 12 100188314 max lod at D21S1437 {Autism susceptibility 12}, 610838 (2) -chr21 3100000 7000000 21p12 180453 RNR4 Ribosomal RNA-4 RNR4 6055 -chr21 7000000 10900000 21p11.2 605167 BAGE1, BAGE BAGE family, member 1 BAGE 574 previously assigned to chr.13 -chr21 7000000 10900000 21p11.2 617777 BAGE3 BAGE family, member 3 BAGE3 85318 -chr21 10413496 10518273 21p11.2 21p11.2 617776 BAGE2 BAGE family, member 2 BAGE2 85319 -chr21 10521582 10605715 21p11.2 21p11.2 604336 TPTE Transmembrane phosphatase with tensin homology TPTE 7179 ENSG00000274391 Tpte (MGI:2446460) -chr21 13000000 15000000 21q11.2 609039 NRCLP3 Narcolepsy 3 494446 max lod at D21S1245 Narcolepsy 3, 609039 (2), Autosomal dominant -chr21 13000000 15000000 21q11.2 159595 TAM, MST Myeloproliferative syndrome, transient (transient abnormal myelopoiesis) 8205 Leukemia, transient, of Down syndrome, 159595 (2) -chr21 13609776 13645822 21q11.2 21q11.2 607549 POTED, ANKRD21, POTE POTE ankyrin domain family, member D POTED 317754 ENSG00000166351 Gm21119 (MGI:5434474) -chr21 14108811 14210954 21q11.2 21q11.2 609252 LIPI, LPDL, PRED5 Lipase I LIPI 149998 ENSG00000188992 Lipi (MGI:2443868) -chr21 14216106 14228371 21q11.2 21q11.2 617937 RBM11 RNA-binding motif protein 11 RBM11 54033 ENSG00000185272 Rbm11 (MGI:2447622) -chr21 14273798 14301385 21q11.2 21q11.2 608835 ABCC13 ATP-binding cassette, subfamily C, member 13 ABCC13 150000 ENSG00000243064 -chr21 14371114 14383145 21q11.1 21q11.2 601100 STCH Stress 70 protein chaperone, microsome-associated, p60 HSPA13 6782 ENSG00000155304 Hspa13 (MGI:1309463) -chr21 14485227 14643106 21q11.2 21q11.2 607978 SAMSN1, HACS1 SAM domain, SH3 domain, and nuclear localization signals 1 SAMSN1 64092 ENSG00000155307 Samsn1 (MGI:1914992) -chr21 14961234 15065902 21q11 21q11.2-q21.1 602490 NRIP1, RIP140, CAKUT3 Nuclear receptor interacting protein 1 (receptor interacting protein 140) NRIP1 8204 ENSG00000180530 mutation identified in 1 CAKUT3 family ?Congenital anomalies of kidney and urinary tract 3, 618270 (3), Autosomal dominant Nrip1 (MGI:1315213) -chr21 15729946 15880063 21q11.2 21q21.1 604736 USP25, USP21 Ubiquitin-specific protease 25 USP25 29761 ENSG00000155313 Usp25 (MGI:1353655) -chr21 16070487 16631726 21q21.1 21q21.1 615964 MIR99AHG, MONC, LINC00478 MIR99A-LET7C cluster host gene, noncoding MIR99AHG 388815 ENSG00000215386 -chr21 16539088 16539168 21q21.1 21q21.1 614509 MIR99A Micro RNA 99A MIR99A 407055 ENSG00000207638 Mir99a (MGI:2676912) -chr21 16539827 16539910 21q21.1 21q21.1 612144 MIRLET7C, MIRNLET7C, LET7C Micro RNA Let7c MIRLET7C 406885 ENSG00000199030 Mirlet7c-1 (MGI:2676795) -chr21 16590236 16590324 21q21.1 21q21.1 610105 MIR125B2, MIRN125B2 Micro RNA 125B-2 MIR125B2 406912 ENSG00000207863 Mir125b-2 (MGI:3618706) -chr21 17513015 17636212 21q11.2 21q21.1 602621 CXADR, CAR Coxsackie virus and adenovirus receptor CXADR 1525 ENSG00000154639 pseudogenes on chr.15 and chr.18 Cxadr (MGI:1201679) -chr21 17593652 17612939 21q11.2-q21.1 21q21.1 605674 BTG3, ANA, TOB5 BTG antiproliferation factor 3 BTG3 10950 ENSG00000154640 Btg3 (MGI:109532) -chr21 17819328 18267370 21q21 21q21.1 607247 CHODL Chondrolectin CHODL 140578 ENSG00000154645 Chodl (MGI:2179069) -chr21 18269106 18403805 21q21 21q21.1 606635 TMPRSS15, PRSS7, ENTK Transmembrane protease, serine 15 TMPRSS15 5651 ENSG00000154646 Enterokinase deficiency, 226200 (3), Autosomal recessive Tmprss15 (MGI:1197523) -chr21 20998338 21543328 21q21 21q21.1 602040 NCAM2 Cell adhesion molecule, neural, 2 NCAM2 4685 ENSG00000154654 Ncam2 (MGI:97282) -chr21 25500000 30200000 21q21 602097 USH1E Usher syndrome-1E, autosomal recessive, severe 7396 Usher syndrome, type 1E, 602097 (2), Autosomal recessive -chr21 25573979 25574043 21q21.3 21q21.3 609337 MIR155, BIC, MIRN155 Micro RNA 155 MIR155 406947 ENSG00000283904 Mir155 (MGI:2676840) -chr21 25585655 25607857 21q11.2-q21 21q21.3 611845 MRPL39, MRPL5 Mitochondrial ribosomal protein L39 MRPL39 54148 ENSG00000154719 Mrpl39 (MGI:1351620) -chr21 25607549 25717561 21q21.2 21q21.3 606870 JAM2, VEJAM, IBGC8 Junctional adhesion molecule 2 JAM2 58494 ENSG00000154721 Basal ganglia calcification, idiopathic, 8, autosomal recessive, 618824 (3), Autosomal recessive Jam2 (MGI:1933820) -chr21 25724499 25735652 21q21.3 21q21.3 603152 ATP5PF, ATP5J, ATP5 ATP synthase peripheral stalk, subunit F6 ATP5PF 522 ENSG00000154723 Atp5j (MGI:107777) -chr21 25734971 25772459 21q21-q22.1 21q21.3 600609 GABPA, E4TF1A GA-binding protein transcription factor, alpha subunit, 60kD GABPA 2551 ENSG00000154727 Gabpa (MGI:95610) -chr21 25880549 26171127 21q21 21q21.3 104760 APP, AAA, CVAP, AD1 Amyloid beta (A4) precursor protein APP 351 ENSG00000142192 proximal to SOD; very distal q21 or boundary with q22 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3), Autosomal dominant; Alzheimer disease 1, familial, 104300 (3), Autosomal dominant App (MGI:88059) -chr21 26393634 26569251 21q21.3 21q21.3 616021 CYYR1AS1, CYYR1-AS1 CYRR1 antisense RNA 1 CYYR1-AS1 100996571 ENSG00000197934 -chr21 26466215 26573285 21q21.3 21q21.3 616020 CYYR1 Cysteine/tyrosine-rich protein 1 CYYR1 116159 ENSG00000166265 Cyyr1 (MGI:2152187) -chr21 26835754 26845408 21q21.2 21q21.3 605174 ADAMTS1, METH1 ADAM metallopeptidase domain with thrombospondin type 1 motif, 1 ADAMTS1 9510 ENSG00000154734 Adamts1 (MGI:109249) -chr21 26917921 26967757 21q21-q22 21q21.3 605007 ADAMTS5, ADAMTS11 ADAM metallopeptidase domain with thrombospondin type 1 motif, 5 (aggrecanase 2) ADAMTS5 11096 ENSG00000154736 Adamts5 (MGI:1346321) -chr21 28439660 28885366 21q21.3 21q21.3 614553 N6AMT1 N6 adenine-specific DNA methyltransferase 1 N6AMT1 29104 ENSG00000156239 N6amt1 (MGI:1915018) -chr21 28928143 28992987 21q22.11 21q21.3 613083 LTN1, RNF160, KIAA0714 Listerin E3 ubiquitin protein ligase 1 LTN1 26046 ENSG00000198862 Ltn1 (MGI:1926163) -chr21 29004383 29019348 21q22.1 21q21.3 617843 RWDD2B, C21orf6 RWD domain-containing protein 2B RWDD2B 10069 ENSG00000156253 Rwdd2b (MGI:1858215) -chr21 29024650 29054487 21q21.3 21q21.3 604735 USP16, UBPM Ubiquitin-specific protease 16 USP16 10600 ENSG00000156256 Usp16 (MGI:1921362) -chr21 29056325 29073647 21q21.3 21q21.3 617786 CCT8, KIAA0002 Chaperonin containing T-complex polypeptide 1, subunit 8 CCT8 10694 ENSG00000156261 Cct8 (MGI:107183) -chr21 29077113 29175886 21q21 21q21.3 611110 TAK1L, C21orf7 TAK1-like MAP3K7CL 56911 ENSG00000156265 Map3k7cl (MGI:2446584) -chr21 29298921 29361893 21q22.1 21q21.3 602751 BACH1 BTB and CNC homology 1 BACH1 571 ENSG00000156273 Bach1 (MGI:894680) -chr21 29536932 29939995 21q22 21q21.3 138245 GRIK1, GLUR5 Glutamate receptor, ionotropic, kainate 1 GRIK1 2897 ENSG00000171189 Grik1 (MGI:95814) -chr21 30165564 30166804 21q21.3 21q21.3 617005 CLDN17 Claudin 17 CLDN17 26285 ENSG00000156282 Cldn17 (MGI:2652030) -chr21 30214005 30216096 21q22.11 21q22.11 611231 CLDN8 Claudin 8 CLDN8 9073 ENSG00000156284 Cldn8 (MGI:1859286) -chr21 30281308 30282949 21q22.1 21q22.11 618927 KRTAP24-1 Keratin-associated protein 24-1 KRTAP24-1 643803 ENSG00000188694 Krtap24-1 (MGI:2685158) -chr21 30396030 30396821 21q22.11 21q22.11 608718 KRTAP13-1 Keratin-associated protein 13-1 KRTAP13-1 140258 ENSG00000198390 2310061N02Rik,Krtap13-1 (MGI:2146359,MGI:1916911) -chr21 30880643 30881579 21q22.11 21q22.11 600064 KRTAP11-1, HACL1 Keratin-associated protein 11-1 KRTAP11-1 337880 ENSG00000182591 Krtap11-1 (MGI:99447) -chr21 31118417 31559976 21q22.1 21q22.11 600687 TIAM1 T-cell lymphoma invasion and metastasis 1 TIAM1 7074 ENSG00000156299 Tiam1 (MGI:103306) -chr21 31659692 31668930 21q22.1 21q22.11 147450 SOD1, ALS1, STAHP Superoxide dismutase-1, soluble SOD1 6647 ENSG00000142168 mid q22.1 Spastic tetraplegia and axial hypotonia, progressive, 618598 (3), Autosomal recessive; Amyotrophic lateral sclerosis 1, 105400 (3), Autosomal dominant, Autosomal recessive Sod1 (MGI:98351) -chr21 31668986 31732117 21q22.11 21q22.11 616023 SCAF4, KIAA1172 SR-related C-terminal domain-associated factor 4 SCAF4 57466 ENSG00000156304 Scaf4 (MGI:2146350) -chr21 31873019 32004063 21q22 21q22.11 606532 HUNK Hormonally upregulated NEU-associated kinase HUNK 30811 ENSG00000142149 Hunk (MGI:1347352) -chr21 32154681 32283953 21q22.11 21q22.11 618137 MIS18A Mis18 kinetochore protein A MIS18A 54069 ENSG00000159055 Mis18a (MGI:1913828) -chr21 32291812 32314783 21q22.1 21q22.11 609196 MRAP, FALP, C21orf61, GCCD2, FGD2 Melanocortin 2 receptor accessory protein MRAP 56246 ENSG00000170262 Glucocorticoid deficiency 2, 607398 (3), Autosomal recessive Mrap (MGI:1924287) -chr21 32311017 32393011 21q22.1 21q22.11 608865 URB1, NPA1, C21orf108, KIAA0539 URB1 ribosome biogenesis 1 homolog (S. cerevisiae) URB1 9875 ENSG00000142207 Urb1 (MGI:2146468) -chr21 32573720 32585522 21q22.1 21q22.11 608365 TCP10L T-complex protein 10-like TCP10L 140290 ENSG00000242220 Tcp10a,Tcp10c (MGI:98543,MGI:98541) -chr21 32599353 32612376 21q22.11 21q22.11 615494 CFAP298, C21orf59, CILD26 Cilia- and flagella-associated protein 298 CFAP298 56683 ENSG00000159079 Ciliary dyskinesia, primary, 26, 615500 (3), Autosomal recessive Cfap298 (MGI:1915251) -chr21 32628758 32731246 21q22.2 21q22.11 604297 SYNJ1, PARK20, DEE53 Synaptojanin 1 SYNJ1 8867 ENSG00000159082 Parkinson disease 20, early-onset, 615530 (3), Autosomal recessive; Developmental and epileptic encephalopathy 53, 617389 (3), Autosomal recessive Synj1 (MGI:1354961) -chr21 32733898 32771834 21q22.11 21q22.11 617621 PAXBP1, GCFC1, C21orf66 PAX3- and PAX7-binding protein 1 PAXBP1 94104 ENSG00000159086 Paxbp1 (MGI:1914617) -chr21 33025934 33029195 21q22.11 21q22.11 606386 OLIG2, PRKCBP2 Oligodendrocyte lineage transcription factor 2 OLIG2 10215 ENSG00000205927 Olig2 (MGI:1355331) -chr21 33070140 33072412 21q22.11 21q22.11 606385 OLIG1 Oligodendrocyte lineage transcription factor 1 OLIG1 116448 ENSG00000184221 Olig1 (MGI:1355334) -chr21 33229937 33265663 21q22.1 21q22.11 602376 IFNAR2, IMD45 Interferon, alpha, beta, and omega, receptor 2 IFNAR2 3455 ENSG00000159110 mutation identified in 1 IMD45 family {Hepatitis B virus, susceptibility to}, 610424 (3); ?Immunodeficiency 45, 616669 (3), Autosomal recessive Ifnar2 (MGI:1098243) -chr21 33266366 33297220 21q22.1 21q22.11 123889 IL10RB, CRFB4, IBD25 Interleukin 10 receptor, beta IL10RB 3588 ENSG00000243646 35kb distal to IFNAR; D21S58 {Hepatitis B virus, susceptibility to}, 610424 (3); Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3), Autosomal recessive Il10rb (MGI:109380) -chr21 33324394 33359863 21q22.1 21q22.11 107450 IFNAR1 Interferon, alpha, beta and omega, receptor 1 IFNAR1 3454 ENSG00000142166 Ifnar1 (MGI:107658) -chr21 33402881 33437515 21q22.1-q22.2 21q22.11 147569 IFNGR2, IFNGT1, IFGR2, IMD28 Interferon gamma receptor-2 (interferon gamma transducer 1) IFNGR2 3460 ENSG00000159128 Immunodeficiency 28, mycobacteriosis, 614889 (3), Autosomal recessive Ifngr2 (MGI:107654) -chr21 33432485 33480003 21q22.11 21q22.11 617894 TMEM50B, C21orf4 Transmembrane protein 50B TMEM50B 757 ENSG00000142188 Tmem50b (MGI:1925225) -chr21 33503930 33542891 21q22.1 21q22.11 138440 GART, PRGS, PGFT Phosphoribosylglycinamide formyltransferase (phosphoribosylglycinamide synthetase; phosphoribosylaminoimidazole synthetase) GART 2618 ENSG00000159131 multifunctional protein: Ade(-)C, Ade(-)G, GART Gart (MGI:95654) -chr21 33543037 33577480 21q22.1-q22.2 21q22.11 182465 SON, TOKIMS SON DNA-binding protein SON 6651 ENSG00000159140 ZTTK syndrome, 617140 (3), Autosomal dominant Son (MGI:98353) -chr21 33577550 33588683 21q22.1 21q22.11 611428 DONSON, C21orf60, MISSLA, MIMIS Downstream neighbor of SON DONSON 29980 ENSG00000159147 Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive; Microcephaly-micromelia syndrome, 251230 (3), Autosomal recessive Donson (MGI:1890621) -chr21 33589340 33641740 21q22.1 21q22.11 603920 CRYZL1 Crystallin, zeta-like 1 CRYZL1 9946 ENSG00000205758 Cryzl1 (MGI:1913859) -chr21 33642451 33899860 21q22.1-q22.2 21q22.11 602442 ITSN1, SH3D1A, SH3P17 Intersectin 1 (SH3 domain protein-1A) ITSN1 6453 ENSG00000205726 Itsn1 (MGI:1338069) -chr21 33903452 33915803 21q22.1-q22.2 21q22.11 600828 ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) ATP5PO 539 ENSG00000241837 Atp5o (MGI:106341) -chr21 34073577 34143029 21q21.3-q22.1 21q22.11 611973 MRPS6 Mitochondrial ribosomal protein S6 MRPS6 64968 ENSG00000243927 Mrps6 (MGI:2153111) -chr21 34073577 34106259 21q22 21q22.11 600444 SLC5A3 Solute carrier family 5 (inositol transporter), member 3 SLC5A3 6526 ENSG00000198743 ?role in Down syndrome Slc5a3 (MGI:1858226) -chr21 34364005 34371380 21q22.1 21q22.11 603796 KCNE2, MIRP1, LQT6, ATFB4 Potassium voltage-gated channel, Isk-related family, member 2 KCNE2 9992 ENSG00000159197 Long QT syndrome 6, 613693 (3), Autosomal dominant; Atrial fibrillation, familial, 4, 611493 (3) Kcne2 (MGI:1891123) -chr21 34446687 34512209 21q22.1-q22.2 21q22.12 176261 KCNE1, JLNS, LQT5, JLNS2 Potassium voltage-gated channel, Isk-related subfamily, member 1 KCNE1 3753 ENSG00000180509 Jervell and Lange-Nielsen syndrome 2, 612347 (3), Autosomal recessive; Long QT syndrome 5, 613695 (3), Autosomal dominant Kcne1 (MGI:96673) -chr21 34516441 34615122 21q22.1-q22.2 21q22.12 602917 RCAN1, DSCR1, MCIP1, CSP1 Regulator of calcineurin 1 RCAN1 1827 ENSG00000159200 Rcan1 (MGI:1890564) -chr21 34668952 34718222 21q22.12 21q22.12 615321 CLIC6, CLIC1L Chloride intracellular channel 6 CLIC6 54102 ENSG00000159212 Clic6 (MGI:2146607) -chr21 34787800 35049333 21q22.3 21q22.12 151385 RUNX1, CBFA2, AML1 Runt-related transcription factor 1 (aml1 oncogene) RUNX1 861 ENSG00000159216 Platelet disorder, familial, with associated myeloid malignancy, 601399 (3), Autosomal dominant; Leukemia, acute myeloid, 601626 (3), Somatic mutation, Autosomal dominant Runx1 (MGI:99852) -chr21 35720714 35720807 21q22.12 21q22.12 616090 MIR802 Micro RNA 802 MIR802 768219 ENSG00000211590 Mir802 (MGI:3691608) -chr21 36070023 36073163 21q22.12 21q22.12 114830 CBR1 Carbonyl reductase 1 CBR1 873 ENSG00000159228 Cbr1 (MGI:88284) -chr21 36134900 36146561 21q22.2 21q22.12 603608 CBR3 Carbonyl reductase 3 CBR3 874 ENSG00000159231 Cbr3 (MGI:1309992) -chr21 36156780 36294273 21q22.2 21q22.12 604803 DOP1B, DOPEY2, 21orf5, KIAA0933 DOP1 leucine zipper-like protein B DOP1B 9980 ENSG00000142197 Dop1b (MGI:1917278) -chr21 36320196 36376636 21q22.12 21q22.12 610078 MORC3, NXP2 MORC family CW-type zinc finger 3 MORC3 23515 ENSG00000159256 Morc3 (MGI:2136841) -chr21 36380144 36419014 21q22.2 21q22.12-q22.13 601245 CAF1A Chromatin assembly factor I, p60 subunit CHAF1B 8208 ENSG00000159259 Chaf1b (MGI:1314881) -chr21 36400000 46709983 21q22.13-qter 609876 BMND6 Bone mineral density QTL 6 100188797 max lod at D21S1446 [Bone mineral density QTL 6], 609876 (2) -chr21 36400000 38300000 21q22.13 609633 MAFD3, BPEO Major affective disorder 3 100188792 max lod at D21S1252 {Major affective disorder 3, early onset}, 609633 (2) -chr21 36460620 36576568 21q22.3 21q22.13 605608 CLDN14, DFNB29 Claudin 14 CLDN14 23562 ENSG00000159261 Deafness, autosomal recessive 29, 614035 (3), Autosomal recessive Cldn14 (MGI:1860425) -chr21 36699114 36750218 21q22.2 21q22.13 600892 SIM2 Single-minded, Drosophila, homolog of, 2 SIM2 6493 ENSG00000159263 Sim2 (MGI:98307) -chr21 36748624 36990254 21q22.1 21q22.13 609018 HLCS, HCS Holocarboxylase synthetase HLCS 3141 ENSG00000159267 Holocarboxylase synthetase deficiency, 253270 (3), Autosomal recessive Hlcs (MGI:894646) -chr21 37006149 37019661 21q22.2 21q22.13 609892 RIPPLY3, DSCR6 Ripply transcriptional repressor 3 RIPPLY3 53820 ENSG00000183145 Ripply3 (MGI:2181192) -chr21 37065363 37073070 21q22.1-q22.2 21q22.13 605938 PIGP, DSCR5, DEE55 Phosphatidylinositol glycan, class P PIGP 51227 ENSG00000185808 Developmental and epileptic encephalopathy 55, 617599 (3), Autosomal recessive Pigp (MGI:1860433) -chr21 37073234 37203117 21q22.2 21q22.13 602259 TTC3, TPRD Tetratricopeptide repeat domain 3 TTC3 7267 ENSG00000182670 Ttc3 (MGI:1276539) -chr21 37223419 37268107 21q22.2 21q22.13 605298 VPS26C, DSCR3, DSCRA VPS26 endosomal protein sorting factor C VPS26C 10311 ENSG00000157538 Vps26c (MGI:1206040) -chr21 37365572 37526357 21q22.1 21q22.13 600855 DYRK1A, MNBH, MNB, MRD7 Dual specificity tyrosine-(Y)-phosphorylation regulated kinase-1A (\'minibrain\', Drosophila, homolog of) DYRK1A 1859 ENSG00000157540 ?triplicate state responsible for mental defect in Down syndrome Mental retardation, autosomal dominant 7, 614104 (3), Autosomal dominant Dyrk1a (MGI:1330299) -chr21 37607372 37916456 21q22.1 21q22.13 600877 KCNJ6, GIRK2, KCNJ7, KPLBS Potassium inwardly-rectifying channel, subfamily J, member 6 KCNJ6 3763 ENSG00000157542 Keppen-Lubinsky syndrome, 614098 (3), Autosomal dominant Kcnj6 (MGI:104781) -chr21 38054010 38121359 21q22.2 21q22.13 604829 DSCR4, DSCRB Down syndrome critical region gene 4 DSCR4 10281 ENSG00000184029 -chr21 38121450 38156510 21q22.2 21q22.13 613396 DSCR8, MMA1 Down syndrome critical region gene 8 DSCR8 84677 ENSG00000198054 -chr21 38229925 38307356 21q22.2 21q22.1-q22.2 602106 KCNJ15 Potassium inwardly-rectifying channel, subfamily J, member 15 KCNJ15 3772 ENSG00000157551 Kcnj15 (MGI:1310000) -chr21 38367260 38661782 21q22.3 21q22.2 165080 ERG ETS transcription factor ERG ERG 2078 ENSG00000157554 fused with EWS in Ewing sarcoma, with FUS in leukemia Erg (MGI:95415) -chr21 38739020 38773476 21q22.2-q22.3 21q22.2 611723 C21orf24 Chromosome 21 open reading frame 24 LINC00114 400866 ENSG00000223806 -chr21 38805182 38824954 21q22.3 21q22.2 164740 ETS2 ETS protooncogene 2, transcription factor ETS2 2114 ENSG00000157557 proximal q22.3 Ets2 (MGI:95456) -chr21 39174768 39183513 21q22.3 21q22.2 605296 PSMG1, DSCR2, C21LRP Proteasome (prosome, macropain) assembly chaperone 1 PSMG1 8624 ENSG00000183527 Psmg1 (MGI:1860263) -chr21 39184175 39321594 21q22.2-q22.3 21q22.2 617824 BRWD1, WRD9, C21orf107 Bromodomain and WD repeat domain-containing protein 1 BRWD1 54014 ENSG00000185658 Brwd1 (MGI:1890651) -chr21 39342314 39349087 21q22.3 21q22.2 163920 HMGN1, HMG14 High-mobility group nucleosomal binding protein 1 HMGN1 3150 ENSG00000205581 Hmgn1 (MGI:96120) -chr21 39380325 39428527 21q22.3 21q22.2 602915 GET1, WRB, CHD5 Guided entry of tail-anchored proteins factor 1 GET1 7485 ENSG00000182093 Get1 (MGI:2136882) -chr21 39445864 39515505 21q22.3 21q22.2 602230 SH3GBR SH3 domain binding glutamic acid-rich protein SH3BGR 6450 ENSG00000185437 Sh3bgr (MGI:1354740) -chr21 39612939 39673136 21q22.3 21q22.2 604066 B3GALT5, GLCT5 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5 B3GALT5 10317 ENSG00000183778 B3galt5 (MGI:2136878) -chr21 39632464 39802080 21q22.2 21q22.2 610638 IGSF5, JAM4 Immunoglobulin superfamily, member 5 IGSF5 150084 ENSG00000183067 Igsf5 (MGI:1919308) -chr21 39867437 39929391 21q22.3 21q22.2 601629 PCP4 Purkinje cell protein 4 PCP4 5121 ENSG00000183036 Pcp4 (MGI:97509) -chr21 40010998 40847157 21q22.2 21q22.2 602523 DSCAM DS cell adhesion molecule DSCAM 1826 ENSG00000171587 Dscam (MGI:1196281) -chr21 41168159 41282529 21q22.3 21q22.2-q22.3 605668 BACE2, ALP56, DRAP Beta-site amyloid beta A4 precursor protein-cleaving enzyme 2 (Down syndrome region aspartic protease) BACE2 25825 ENSG00000182240 Bace2 (MGI:1860440) -chr21 41175230 41185238 21q22.3 21q22.2 613770 PLAC4 Placenta-specific gene 4 PLAC4 191585 ENSG00000280109 -chr21 41200000 46709983 21q22.3 190685 DCR, DSCR Down syndrome chromosome region many genes are involved in this phenotype Down syndrome, 190685 (4), Isolated cases -chr21 41200000 46709983 21q22 611515 FEB7 Febrile seizures, familial, 7 100049160 max lod at D21S1910 Febrile seizures, familial, 7, 611515 (2) -chr21 41200000 46709983 21q22.3 236100 HPE1 Holoprosencephaly-1, alobar 3244 Holoprosencephaly 1, 236100 (2), Autosomal dominant, Isolated cases -chr21 41200000 46709983 21q22 609428 TUKLS Tukel syndrome 574049 max lod at D21S1259 Tukel syndrome, 609428 (2), Autosomal recessive -chr21 41304228 41357726 21q22 21q22.3 608617 FAM3B Family with sequence similarity 3, member B FAM3B 54097 ENSG00000183844 Fam3b (MGI:1270150) -chr21 41361943 41409392 21q22.3 21q22.3 147890 MX2 MX dynamin-like GTPase 2 MX2 4600 ENSG00000183486 -chr21 41420328 41459213 21q22.3 21q22.3 147150 MX1, MX, IFI78 MX dynamin-like GTPase 1 MX1 4599 ENSG00000157601 Mx2,Mx1 (MGI:97244,MGI:97243) -chr21 41464304 41508157 21q22.3 21q22.3 602060 TMPRSS2 Transmembrane protease, serine 2 TMPRSS2 7113 ENSG00000184012 Tmprss2 (MGI:1354381) -chr21 41739372 41767051 21q22.3 21q22.3 605706 RIPK4, NKRD3, DIK, PPS2, CHANDS Receptor-interacting serine-threonine kinase 4 RIPK4 54101 ENSG00000183421 CHAND syndrome, 214350 (3), Autosomal recessive; Popliteal pterygium syndrome, Bartsocas-Papas type 1, 263650 (3), Autosomal recessive Ripk4 (MGI:1919638) -chr21 41798224 41879395 21q22.3 21q22.3 617692 PRDM15, ZNF298 PR domain-containing protein 15 PRDM15 63977 ENSG00000141956 Prdm15 (MGI:1930121) -chr21 41885109 41954017 21q22.3 21q22.3 617581 C2CD2, TMEM24L, C21orf25 C2 calcium-dependent domain-containing protein 2 C2CD2 25966 ENSG00000157617 C2cd2 (MGI:1891883) -chr21 41986830 42010417 21q22.3 21q22.3 616485 ZBTB21, ZNF295, KIAA1227 Zinc finger- and BTB domain-containing protein 21 ZBTB21 49854 ENSG00000173276 Zbtb21 (MGI:1927240) -chr21 42062876 42142995 21q22.3 21q22.3 613859 UMODL1 Uromodulin-like 1 UMODL1 89766 ENSG00000177398 Umodl1 (MGI:1929785) -chr21 42199688 42304386 21q22.3 21q22.3 603076 ABCG1, ABC8, WHITE1 ATP-binding cassette, subfamily G, member 1 (white, Drosophila, homolog of) ABCG1 9619 ENSG00000160179 Abcg1 (MGI:107704) -chr21 42311666 42315408 21q22.3 21q22.3 600633 TFF3, ITF Trefoil factor 3 (intestinal) TFF3 7033 ENSG00000160180 Tff3 (MGI:104638) -chr21 42346356 42350993 21q22.3 21q22.3 182590 TFF2, SML1 Trefoil factor 2 (spasmolytic protein-1) TFF2 7032 ENSG00000160181 within 230kb of BCEI Tff2 (MGI:1306805) -chr21 42362281 42366534 21q22.3 21q22.3 113710 TFF1, BCEI Trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) TFF1 7031 ENSG00000160182 Gm3090,Tff1 (MGI:88135,MGI:3781266) -chr21 42371889 42396051 21q22.3 21q22.3 605511 TMPRSS3, ECHOS1, DFNB8, DFNB10 Transmembrane protease, serine 3 TMPRSS3 64699 ENSG00000160183 Deafness, autosomal recessive 8/10, 601072 (3), Autosomal recessive Tmprss3 (MGI:2155445) -chr21 42403879 42447683 21q22.3 21q22.3 605736 UBASH3A Ubiquitin-associated and SH3 domain-containing protein A UBASH3A 53347 ENSG00000160185 Ubash3a (MGI:1926074) -chr21 42472485 42496245 21q22.3 21q22.3 609314 RSPH1, TSGA2, TSA2, CILD24 Radial spoke head component 1 RSPH1 89765 ENSG00000160188 Ciliary dyskinesia, primary, 24, 615481 (3), Autosomal recessive Rsph1 (MGI:1194909) -chr21 42499621 42581435 21q22.3 21q22.3 608094 SLC37A1, G3PP Solute carrier family 37 (glycerol-3-phosphate transporter), member 1 SLC37A1 54020 ENSG00000160190 Slc37a1 (MGI:2446181) -chr21 42653620 42775508 21q22.3 21q22.3 602973 PDE9A, HSPDE9A2 Phosphodiesterase 9A PDE9A 5152 ENSG00000160191 Pde9a (MGI:1277179) -chr21 42843074 42891694 21q22.3 21q22.3 605924 WDR4, MIGSB, GAMOS6 WD repeat-containing protein 4 WDR4 10785 ENSG00000160193 Galloway-Mowat syndrome 6, 618347 (3), Autosomal recessive; Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3), Autosomal recessive Wdr4 (MGI:1889002) -chr21 42893270 42913298 21q22.3 21q22.3 602184 NDUFV3 NADH-ubiquinone oxidoreductase subunit V3 NDUFV3 4731 ENSG00000160194 Ndufv3 (MGI:1890894) -chr21 42974561 43033930 21q22.3 21q22.3 602100 PKNOX1 PBX/knotted 1 homeo box 1 PKNOX1 5316 ENSG00000160199 Pknox1 (MGI:1201409) -chr21 43053189 43076872 21q22.3 21q22.3 613381 CBS Cystathionine beta-synthase CBS 875 ENSG00000160200 subtelomeric Thrombosis, hyperhomocysteinemic, 236200 (3), Autosomal recessive; Homocystinuria, B6-responsive and nonresponsive types, 236200 (3), Autosomal recessive Cbs (MGI:88285) -chr21 43092955 43108290 21q22.3 21q22.3 191317 U2AF1 U2(RNU2) small nuclear RNA auxillary factor 1 U2AF1 7307 ENSG00000160201 U2af1 (MGI:98884) -chr21 43169007 43172809 21q22.3 21q22.3 123580 CRYAA, CRYA1, CTRCT9 Crystallin, alpha A CRYAA 1409 ENSG00000160202 Cataract 9, multiple types, 604219 (3), Autosomal dominant, Autosomal recessive Cryaa (MGI:88515) -chr21 43414482 43427130 21q22.3 21q22.3 605705 SIK1, SNF1LK, MSK, DEE30 Salt-inducible kinase 1 SIK1 150094 ENSG00000142178 Developmental and epileptic encephalopathy 30, 616341 (3), Autosomal dominant Sik1 (MGI:104754) -chr21 43453986 43659498 21q22.3 21q22.3 604554 HSF2BP, POF19 Heat-shock transcription factor 2-binding protein HSF2BP 11077 ENSG00000160207 Premature ovarian failure 19, 619245 (3), Autosomal recessive Hsf2bp (MGI:1921627) -chr21 43659559 43696078 21q22 21q22.3 610654 RRP1B, KIAA0179, NNP1L Ribosomal RNA-processing protein 1, S. cerevisiae, homolog of, B RRP1B 23076 ENSG00000160208 Rrp1b (MGI:1919712) -chr21 43719128 43762298 21q22.3 21q22.3 179020 PDXK, PNK, PKH, HMSN6C Pyridoxal kinase PDXK 8566 ENSG00000160209 Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, 618511 (3), Autosomal recessive Pdxk (MGI:1351869) -chr21 43773949 43776307 21q22.3 21q22.3 601145 CSTB, STFB, EPM1, PME, EPM1A, ULD Cystatin B (stefin B) CSTB 1476 ENSG00000160213 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3), Autosomal recessive Cstb (MGI:109514) -chr21 43789550 43805292 21q22.3 21q22.3 610653 RRP1, NOP52, NNP1 Ribosomal RNA-processing 1 RRP1 8568 ENSG00000160214 Rrp1 (MGI:1203500) -chr21 43865159 43987591 21q22.3 21q22.3 614794 AGPAT3, LPAAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 AGPAT3 56894 ENSG00000160216 Agpat3 (MGI:1336186) -chr21 44012308 44106551 21q22.3 21q22.3 602103 TRAPPC10, TMEM1, EHOC1 Trafficking protein particle complex, subunit 10 TRAPPC10 7109 ENSG00000160218 near PWP2H Trappc10 (MGI:1336209) -chr21 44107322 44131180 21q22.3 21q22.3 601475 PWP2H, PWP2 PWP2 small subunit processome component PWP2 5822 ENSG00000241945 Pwp2 (MGI:1341200) -chr21 44133664 44145710 21q22.3 21q22.3 601659 GATD3A, ES1, HES1, GT335, C21orf33 Glutamine amidotransferase-like class 1 domain-containing protein 3A GATD3 8209 ENSG00000160221 Gatd3a (MGI:1351861) -chr21 44216978 44240942 21q22.3 21q22.3 605717 ICOSLG, B7H2, GL50, B7RP1 Inducible T-cell co-stimulator ligand ICOSLG 23308 ENSG00000160223 Icosl (MGI:1354701) -chr21 44246338 44261896 21q22.3 21q22.3 606588 DNMT3L DNA methyltransferase 3-like protein DNMT3L 29947 ENSG00000142182 Dnmt3l (MGI:1859287) -chr21 44285875 44298647 21q22.3 21q22.3 607358 AIRE, APECED, APS1 Autoimmune regulator AIRE 326 ENSG00000160224 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3), Autosomal dominant, Autosomal recessive Aire (MGI:1338803) -chr21 44300039 44327372 21q22.3 21q22.3 171860 PFKL Phosphofructokinase, liver type PFKL 5211 ENSG00000141959 Hemolytic anemia due to phosphofructokinase deficiency (1) Pfkl (MGI:97547) -chr21 44328943 44339416 21q22.3 21q22.3 603191 CFAP410, C21orf2, SMDAX, RDMS Cilia and flagella-associated protein 410 CFAP410 755 ENSG00000160226 Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive; Spondylometaphyseal dysplasia, axial, 602271 (3), Autosomal recessive Cfap410 (MGI:1915134) -chr21 44350111 44442806 21q22.3 21q22.3 603749 TRPM2, TRPC7, KNP3 Transient receptor potential cation channel, subfamily M, member 2 TRPM2 7226 ENSG00000142185 Trpm2 (MGI:1351901) -chr21 44455509 44462195 21q22.3 21q22.3 617620 LRRC3, C21orf102, C21orf30 Leucine-rich repeat-containing protein 3 LRRC3 81543 ENSG00000160233 Lrrc3 (MGI:2447899) -chr21 44497892 44711571 21q22.3 21q22.3 612920 TSPEAR, C21orf29, DFNB98, ECTD14 Thrombospondin-type laminin G domain and EAR repeats TSPEAR 54084 ENSG00000175894 mutation identified in 1 DFNB98 family ?Deafness, autosomal recessive 98, 614861 (3), Autosomal recessive; Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 (3), Autosomal recessive Tspear (MGI:2671932) -chr21 44768579 44801819 21q22.3 21q22.3 603124 UBE2G2, UBC7 Ubiquitin-conjugating enzyme E2G 2 UBE2G2 7327 ENSG00000184787 Ube2g2 (MGI:1343188) -chr21 44805616 44818061 21q22.3 21q22.3 602231 SUMO3, SMT3H1 Small ubiquitin-like modifier 3 SUMO3 6612 ENSG00000184900 Sumo3 (MGI:1336201) -chr21 44849597 44873689 21q22.3 21q22.3 603784 PTTG1IP, C21orf1, C21orf3, PBF PPTG1-interacting protein PTTG1IP 754 ENSG00000183255 Pttg1ip (MGI:2652132) -chr21 44885948 44928814 21q22.3 21q22.3 600065 ITGB2, CD18, LCAMB, LAD Integrin, beta-2 (antigen CD18 (p95), lymphocyte function-associated antigen-1; macrophage antigen, beta polypeptide) ITGB2 3689 ENSG00000160255 common subunit for CR3, LFA1, and P150,95 Leukocyte adhesion deficiency, 116920 (3), Autosomal recessive Itgb2l,Itgb2 (MGI:96611,MGI:1277979) -chr21 44989863 44994085 21q22.3 21q22.3 610259 LINC00163, NCRNA00163, NLC1A Long intergenic nonprotein coding RNA 163 LINC00163 727699 ENSG00000234880 -chr21 44999207 45004726 21q22.3 21q22.3 617191 PICSAR, LINC00162, NLC1C p38-inhibited cutaneous squamous cell carcinoma-associated long intergenic noncoding RNA PICSAR 378825 ENSG00000275874 -chr21 45074577 45226562 21q22.3 21q22.3 601218 ADARB1, RED1, NEDHYMS Adenosine deaminase, RNA-specific, B1 (RED1, rat, homolog of) ADARB1 104 ENSG00000197381 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 (3), Autosomal recessive Adarb1 (MGI:891999) -chr21 45263927 45287913 21q22.3 21q22.3 610249 POFUT2, C21Orf80, KIAA0958 Protein O-fucosyltransferase 2 POFUT2 23275 ENSG00000186866 Pofut2 (MGI:1916863) -chr21 45405164 45513719 21q22.3 21q22.3 120328 COL18A1, KNO1, GLCC Collagen XVIII, alpha-1 polypeptide COL18A1 80781 ENSG00000182871 Knobloch syndrome, type 1, 267750 (3), Autosomal recessive; Glaucoma, primary closed-angle, 618880 (3), Autosomal dominant Col18a1 (MGI:88451) -chr21 45502516 45563139 21q22.3 21q22.3 600424 SLC19A1, FOLT, MEGAF Solute carrier family 19 (folate transporter), member 1 SLC19A1 6573 ENSG00000173638 mutation identified in 1 MEGAF patient ?Megaloblastic anemia, folate-responsive, 601775 (3), Autosomal recessive Slc19a1 (MGI:103182) -chr21 45643724 45942453 21q22.3 21q22.3 608502 PCBP3 Poly(rC)-binding protein 3 PCBP3 54039 ENSG00000183570 Pcbp3 (MGI:1890470) -chr21 45981769 46005047 21q22.3 21q22.3 120220 COL6A1, BTHLM1, UCHMD1 Collagen VI, alpha-1 polypeptide COL6A1 1291 ENSG00000142156 Bethlem myopathy 1, 158810 (3), Autosomal dominant, Autosomal recessive; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal dominant, Autosomal recessive Col6a1 (MGI:88459) -chr21 46098070 46132848 21q22.3 21q22.3 120240 COL6A2, BTHLM1, UCMD1 Collagen VI, alpha-2 polypeptide COL6A2 1292 ENSG00000142173 mutation identified in 1 MYSCL family Bethlem myopathy 1, 158810 (3), Autosomal dominant, Autosomal recessive; ?Myosclerosis, congenital, 255600 (3), Autosomal recessive; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal dominant, Autosomal recessive Col6a2 (MGI:88460) -chr21 46135980 46156481 21q22.3 21q22.3 606806 FTCD Formiminotransferase cyclodeminase FTCD 10841 ENSG00000160282 Glutamate formiminotransferase deficiency, 229100 (3), Autosomal recessive Ftcd (MGI:1339962) -chr21 46161147 46185162 21q22.3 21q22.3 612412 C21orf56 Chromosome 21 open reading frame 56 SPATC1L 84221 ENSG00000160284 Spatc1l (MGI:1923823) -chr21 46188445 46228773 21q22.3 21q22.3 600909 LSS, OSC, CTRCT44, HYPT14, APMR4 Lanosterol synthase LSS 4047 ENSG00000160285 Hypotrichosis 14, 618275 (3), Autosomal recessive; Cataract 44, 616509 (3), Autosomal recessive; Alopecia-mental retardation syndrome 4, 618840 (3), Autosomal recessive Lss (MGI:1336155) -chr21 46235129 46286296 21q22.3 21q22.3 603294 MCM3AP, MAP80, GANP, PNRIID Minichromosome maintenance 3-associated protein, 80-kD MCM3AP 8888 ENSG00000160294 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3), Autosomal recessive Mcm3ap (MGI:1930089) -chr21 46286055 46314187 21q22.3 21q22.3 617461 YBEY, C21orf57 YBEY metallopeptidase YBEY 54059 ENSG00000182362 Ybey (MGI:2656825) -chr21 46324121 46445768 21q22.3 21q22.3 605925 PCNT, PCNT2, KEN, SCKL4, MOPD2 Pericentrin PCNT 5116 ENSG00000160299 Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3), Autosomal recessive Pcnt (MGI:102722) -chr21 46458890 46571225 21q22.3 21q22.3 607711 DIP2A, KIAA0184 Disco-interacting protein 2 homolog A DIP2A 23181 ENSG00000160305 previously mapped to Chr.2 Dip2a (MGI:2385920) -chr21 46598603 46605242 21q22.2-q22.3 21q22.3 176990 S100B S100 calcium-binding protein, beta (neural) S100B 6285 ENSG00000160307 S100b (MGI:98217) -chr21 46635155 46665684 21q22.3 21q22.3 601961 HRMT1L1, PRMT2 HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1 PRMT2 3275 ENSG00000160310 Prmt2 (MGI:1316652) -chr21 0 46709983 Chr.21 109670 BAS Beta-adrenergic stimulation, response to 8213 -chr21 0 46709983 Chr.21 143460 HTOR 5-hydroxytryptamine oxygenase regulator HTOR 3349 -chr22 4300000 9400000 22p12 180454 RNR5 Ribosomal RNA-5 RNR5 6056 -chr22 11474776 11479842 22p 22p11.2 194547 ZNF73 Zinc finger protein-73 (Cos12) ZNF73P 105379427 ENSG00000288262 -chr22 15690025 15721630 22q11.1 22q11.1 608913 POTEH, POTE22, ACTBL1 POTE ankyrin domain family, member H POTEH 23784 ENSG00000198062 Potegl,4930467E23Rik,Poteb,Potea,Poteg (MGI:3796981,MGI:1923056,MGI:1918231,MGI:1914825,MGI:1918202) -chr22 16195708 16198039 22p 22q11.1 194546 ZNF72 Zinc finger protein-72 (Cos8) ZNF72P 100287084 -chr22 16783479 16825410 22q11.1 22q11.1 611674 XKR3, XTES, XRG3 X Kell blood group precursor-related family, member 3 XKR3 150165 ENSG00000172967 -chr22 17084999 17115692 22q11.22-q11.23 22q11.1 605461 IL17RA, IL17R, IMD51 Interleukin 17 receptor A IL17RA 23765 ENSG00000177663 Immunodeficiency 51, 613953 (3), Autosomal recessive Il17ra (MGI:107399) -chr22 17178789 17221853 22q11.2 22q11.1 607575 ADA2, CECR1, VAIHS, SNEDS Adenosine deaminase 2 ADA2 51816 ENSG00000093072 Sneddon syndrome, 182410 (3), Autosomal recessive; Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 (3), Autosomal recessive -chr22 17359948 17558150 22q11.2 22q-q 607576 CECR2, KIAA1740 CECR2 histone acetyl-lysine reader CECR2 27443 ENSG00000099954 Cecr2 (MGI:1923799) -chr22 17400000 29200000 22q11.21-q12.1 608264 DFNB40 Deafness, autosomal recessive 40 379003 Deafness, autosomal recessive 40, 608264 (2), Autosomal recessive -chr22 17562469 17592255 22q11.2 22q11.21 609303 SLC25A18, GC2 Solute carrier family 25 (mitochondrial carrier, glutamate), member 18 SLC25A18 83733 ENSG00000182902 Slc25a18 (MGI:1919053) -chr22 17592135 17628821 22q11.2 22q11.21 108746 ATP6V1E1, ATP6E, ARCL2C ATPase, H+ transporting, V1 subunit E1 ATP6V1E1 529 ENSG00000131100 Cutis laxa, autosomal recessive, type IIC, 617402 (3), Autosomal recessive Atp6v1e1 (MGI:894326) -chr22 17734137 17774664 22q11.2 22q11.21 601997 BID BH3-interacting domain death agonist BID 637 ENSG00000015475 Bid (MGI:108093) -chr22 17787648 18024560 22q11.21 22q11.21 608882 MICAL3, KIAA1364 Microtubule-associated monooxygenase, calponin and LIM domains-containing 3 MICAL3 57553 ENSG00000243156 Mical3 (MGI:2442733) -chr22 17980867 17980960 22q11.21 22q11.21 616205 MIR648 Micro RNA 648 MIR648 693233 ENSG00000207780 in intron 1 of MICAL3 -chr22 18077989 18105395 22q11.21 22q11.21 608666 PEX26, PBD7A, PBD7B Peroxisome biogenesis factor 26 PEX26 55670 ENSG00000215193 Peroxisome biogenesis disorder 7B, 614873 (3), Autosomal recessive; Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3), Autosomal recessive Pex26 (MGI:1921293) -chr22 18110808 18131731 22q11 22q11.21 605742 TUBA8, TUBAL2 Tubulin, alpha 8 TUBA8 51807 ENSG00000183785 Tuba8 (MGI:1858225) -chr22 18149854 18177396 22q11.2 22q11.21 607057 USP18, UBP43, ISG43, PTORCH2 Ubiquitin-specific protease 18 USP18 11274 ENSG00000184979 Pseudo-TORCH syndrome 2, 617397 (3), Autosomal recessive Usp18 (MGI:1344364) -chr22 18516334 18518164 22q11.2 22q11.21 612340 GGTLC3 Gamma-glutamyltransferase, light chain 3 GGTLC3 728226 ENSG00000274252 -chr22 18605814 18611918 22q11.21 22q11.21 612699 RIMBP3, RIMBP3A, KIAA1666 RIMS-binding protein 3 RIMBP3 85376 ENSG00000275793 Rimbp3 (MGI:2685449) -chr22 18906319 18912087 22q11 22q11.21 601279 DGCR6 DiGeorge syndrome critical region 6 DGCR6 8214 ENSG00000183628 Dgcr6 (MGI:1202877) -chr22 18912780 18936552 22q11.2 22q11.21 606810 PRODH, PRODH2, SCZD4 Proline dehydrogenase (proline oxidase) PRODH 5625 ENSG00000100033 {Schizophrenia, susceptibility to, 4}, 600850 (3), Autosomal dominant; Hyperprolinemia, type I, 239500 (3), Autosomal recessive Prodh (MGI:97770) -chr22 18970497 19031241 22q11.2 22q11.21 618040 DGCR5, LINC00037 Digeorge syndrome critical region gene 5 DGCR5 26220 ENSG00000273032 -chr22 19036285 19122453 22q11.2 22q11.21 600594 DGCR2, IDD DiGeorge critical region gene 2 (integral membrane protein deleted in DiGeorge syndrome) DGCR2 9993 ENSG00000070413 Dgcr2 (MGI:892866) -chr22 19130278 19144725 22q11.2 22q11.21 601755 ESS2, DGSI, DGCR14 Ess2 splicing factor, Xenopus, homolog of ESS2 8220 ENSG00000100056 Ess2 (MGI:107854) -chr22 19131307 19132621 22q11.21 22q11.21 610710 TSSK2, STK22B Testis-specific serine/threonine kinase 2 TSSK2 23617 ENSG00000206203 Tssk2 (MGI:1347559) -chr22 19146992 19150291 22q11.21 22q11.21 601845 GSC2, GSCL Goosecoid homeobox 2 GSC2 2928 ENSG00000063515 Gsc2 (MGI:892006) -chr22 19175580 19178735 22q11 22q11.21 190315 SLC25A1, SLC20A3, CTP, D2L2AD, CMS23 Solute carrier family 25 (mitochondrial citrate transporter), member 1 SLC25A1 6576 ENSG00000100075 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Autosomal recessive; Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3), Autosomal recessive Slc25a1 (MGI:1345283) -chr22 19179472 19291718 22q11.2 22q11.21 601273 CLTCL1, CLTD Clathrin, heavy polypeptide-like 1 CLTCL1 8218 ENSG00000070371 -chr22 19253130 19253468 22q11 22q11.21 601225 DVL1P1, DVL, DVL1 Dishevelled segment polarity protein 1, pseudogene 1 DVL1P1 8215 -chr22 19330697 19431732 22q11 22q11.21 600237 HIRA, TUPLE1 Histone cell cycle regulator HIRA 7290 ENSG00000100084 ?role in CATCH22 Hira (MGI:99430) -chr22 19432544 19436074 22q11.21 22q11.21 605089 MRPL40, NLVCF, MRPL22 Mitochondrial ribosomal protein L40 MRPL40 64976 ENSG00000185608 Mrpl40 (MGI:1332635) -chr22 19449910 19479192 22q11.2 22q11.21 601754 UFD1L Ubiquitin fusion degradation 1-like UFD1 7353 ENSG00000070010 ?role in CATCH22 Ufd1 (MGI:109353) -chr22 19479293 19520611 22q11.2 22q11.21 603465 CDC45L, CDC45L2, MGORS7 Cell division cycle 45, S. Cerevisiae, homolog-like CDC45 8318 ENSG00000093009 Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive Cdc45 (MGI:1338073) -chr22 19523023 19525336 22q11.2 22q11.21 602101 CLDN5, TMVCF, AWAL Claudin-5 (transmembrane protein deleted in velocardiofacial syndrome) CLDN5 7122 ENSG00000184113 Cldn5 (MGI:1276112) -chr22 19714502 19723318 22q11.2 22q11.21 602724 SEPT5, PNUTL1, CDCREL Septin 5 SEPTIN5 5413 ENSG00000184702 just 5' of GP1BB Septin5 (MGI:1195461) -chr22 19723538 19724770 22q11.2 22q11.21 138720 GP1BB, BS, BDPLT1 Glycoprotein Ib, platelet, beta polypeptide GP1BB 2812 ENSG00000203618 Giant platelet disorder, isolated, 231200 (3), Autosomal recessive; Bernard-Soulier syndrome, type B, 231200 (3), Autosomal recessive Gp1bb (MGI:107852) -chr22 19756702 19783592 22q11.2 22q11.21 602054 TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR T-box 1 TBX1 6899 ENSG00000184058 Tetralogy of Fallot, 187500 (3), Autosomal dominant; DiGeorge syndrome, 188400 (3), Autosomal dominant; Conotruncal anomaly face syndrome, 217095 (3); Velocardiofacial syndrome, 192430 (3), Autosomal dominant Tbx1 (MGI:98493) -chr22 19783222 19854873 22q11.2 22q11.21 610778 GNB1L, WDR14 Guanine nucleotide-binding protein, beta-1-like GNB1L 54584 ENSG00000185838 Gnb1l (MGI:1338057) -chr22 19875521 19941817 22q11.2 22q11.21 606448 TXNRD2, TRXR2, SELZ, GCCD5 Thioredoxin reductase 2 TXNRD2 10587 ENSG00000184470 mutation identified in 1 GCCD5 family ?Glucocorticoid deficiency 5, 617825 (3), Autosomal recessive Txnrd2 (MGI:1347023) -chr22 19941771 19969974 22q11.2 22q11.21 116790 COMT Catechol-O-methyltransferase COMT 1312 ENSG00000093010 {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Panic disorder, susceptibility to}, 167870 (3), ?Autosomal dominant Comt (MGI:88470) -chr22 19966726 20016822 22q11 22q11.21 602269 ARVCF ARVCF delta catenin family member ARVCF 421 ENSG00000099889 ?role in VCFS Arvcf (MGI:109620) -chr22 20016999 20067163 22q11.2 22q11.21 616830 TANGO2, C22orf25, MECRCN Transport and golgi organization 2 homolog TANGO2 128989 ENSG00000183597 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3), Autosomal recessive Tango2 (MGI:101825) -chr22 20033138 20033219 22q11.21 22q11.21 615576 MIR185 Micro RNA 185 MIR185 406961 ENSG00000208023 within first intron of C22orf25 Mir185 (MGI:2676849) -chr22 20080240 20111871 22q11.2 22q11.21 609030 DGCR8 DGCR8 microprocessor complex subunit DGCR8 54487 ENSG00000128191 Dgcr8 (MGI:2151114) -chr22 20111871 20117253 22q11.21 22q11.21 611151 TRMT2A, HTF9C tRNA methyltransferase 2 homolog A TRMT2A 27037 ENSG00000099899 Trmt2a (MGI:96270) -chr22 20116103 20127354 22q11.21 22q11.21 601180 RANBP1, HTF9A RAN-binding protein 1 RANBP1 5902 ENSG00000099901 Ranbp1 (MGI:96269) -chr22 20131803 20148006 22q11.21 22q11.21 608784 ZDHHC8, ZNF378, KIAA1292 Zinc finger DHHC domain-containing protein 8 ZDHHC8 29801 ENSG00000099904 Zdhhc8 (MGI:1338012) -chr22 20241414 20268317 22q11 22q11.21 605566 RTN4R, NOGOR NOGO receptor (reticulon 4 receptor) RTN4R 65078 ENSG00000040608 {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant Rtn4r (MGI:2136886) -chr22 20314237 20320059 22q11 22q11.21 609459 DGCR6L DiGeorge syndrome critical region gene 6-like DGCR6L 85359 ENSG00000128185 Dgcr6 (MGI:1202877) -chr22 20394150 20408454 22q11.2 22q11.21 194548 ZNF74 Zinc finger protein-74 (Cos52) ZNF74 7625 ENSG00000185252 -chr22 20424583 20437824 22q11 22q11.21 613619 SCARF2, SREC2, VDEGS Scavenger receptor class F, member 2 SCARF2 91179 ENSG00000244486 Van den Ende-Gupta syndrome, 600920 (3), Autosomal recessive Scarf2 (MGI:1858430) -chr22 20441518 20497304 22q11.21 22q11.21 618020 KLHL22 Kelch-like 22 KLHL22 84861 ENSG00000099910 Klhl22 (MGI:1337995) -chr22 20507581 20587620 22q11.2 22q11.21 607372 MED15, PCQAP, TIG1, ARC105 Mediator complex subunit 15 MED15 51586 ENSG00000099917 Med15 (MGI:2137379) -chr22 20707690 20858811 22q11.21 22q11.21 600286 PI4KA, PIK4CA, PMGYCHA Phosphatidylinositol 4-kinase, catalytic, alpha PI4KA 5297 ENSG00000241973 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3), Autosomal recessive Pi4ka (MGI:2448506) -chr22 20774112 20787719 22q11 22q11.21 142360 HCF2, HC2, SERPIND1, THPH10 Heparin cofactor II SERPIND1 3053 ENSG00000099937 proximal to BCR Thrombophilia due to heparin cofactor II deficiency, 612356 (3), Autosomal dominant Serpind1 (MGI:96051) -chr22 20859006 20891213 22q11.2 22q11.21 604202 SNAP29, CEDNIK Synaptosomal-associated protein, 29kD SNAP29 9342 ENSG00000099940 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3), Autosomal recessive Snap29 (MGI:1914724) -chr22 20917406 20953746 22q11 22q11.21 602007 CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like CRKL 1399 ENSG00000099942 Crkl (MGI:104686) -chr22 20965171 20981357 22q11.21 22q11.21 617298 AIFM3, AIFL Apoptosis-inducing factor, mitochondria-associated, 3 AIFM3 150209 ENSG00000183773 Aifm3 (MGI:1919418) -chr22 20982296 20999031 22q11.1-q11.2 22q11.21 600574 LZTR1, SWNTS2, NS10, NS2 Leucine-zipper-like regulator-1 LZTR1 8216 ENSG00000099949 Noonan syndrome 2, 605275 (3), Autosomal recessive; Noonan syndrome 10, 616564 (3), Autosomal dominant; {Schwannomatosis-2, susceptibility to}, 615670 (3), Autosomal dominant Lztr1 (MGI:1914113) -chr22 20999103 21002117 22q11.21 22q11.21 609518 THAP7 THAP domain-containing protein 7 THAP7 80764 ENSG00000184436 Thap7 (MGI:1916259) -chr22 21009698 21028012 22q11 22q11.21 608077 P2RXL1, P2XM, P2X6 Purinergic receptor P2X-like 1 P2RX6 9127 ENSG00000099957 P2rx6 (MGI:1337113) -chr22 21028717 21032560 22q11.2 22q11.21 603752 SLC7A4, CAT4 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 SLC7A4 6545 ENSG00000099960 Slc7a4 (MGI:2146512) -chr22 21207971 21283022 22q11.1 22q11.21 137181 GGT2 Gamma-glutamyltransferase-2 GGT2 728441 ENSG00000133475 [Gamma-glutamyltransferase, familial high serum], 137181 (2) Ggt1 (MGI:95706) -chr22 21383750 21389168 22q11.21 22q11.21 612700 RIMBP3B RIMS-binding protein 3B RIMBP3B 440804 ENSG00000274600 Rimbp3 (MGI:2685449) -chr22 21417370 21451462 22q11.2 22q11.21 607712 HIC2, HRG22, KIAA1020 Hypermethylated in cancer 2 HIC2 23119 ENSG00000169635 Hic2 (MGI:1929869) -chr22 21545665 21551460 22q11.21 22q11.21 612701 RIMBP3C RIMS-binding protein 3C RIMBP3C 150221 ENSG00000183246 Rimbp3 (MGI:2685449) -chr22 21549446 21624033 22q11.2-q13.1 22q11.21 603721 UBE2L3, UBCH7 Ubiquitin-conjugating enzyme E2L 3 UBE2L3 7332 ENSG00000185651 pseudogenes on 12q12 and 19q13.1-q13.2 Gm10705,Ube2l3 (MGI:109240,MGI:3708678) -chr22 21642301 21644298 22q11.2 22q11.21 607551 SDF2L1 Stromal cell-derived factor 2-like 1 SDF2L1 23753 ENSG00000128228 Sdf2l1 (MGI:2149842) -chr22 21653303 21653384 22q11.21-q11.22 22q11.21 613682 MIR130B, MIRN130B Micro RNA 130B MIR130B 406920 ENSG00000283871 Mir130b (MGI:3618716) -chr22 21666009 21700014 22q11.21 22q11.21-q11.22 607588 PPIL2, CYP60 Peptidyl-prolyl isomerase-like 2 PPIL2 23759 ENSG00000100023 Ppil2 (MGI:2447857) -chr22 21697535 21735793 22q11.2 22q11.21-q11.22 608082 YPEL1 Yippee-like 1 YPEL1 29799 ENSG00000100027 pseudogene on 9p24.3 Ypel1 (MGI:1913303) -chr22 21759656 21867679 22q11.2 22q11.22 176948 MAPK1, PRKM1, ERK2, NS13 Mitogen-activated protein kinase 1 MAPK1 5594 ENSG00000100030 Noonan syndrome 13, 619087 (3), Autosomal dominant Mapk1 (MGI:1346858) -chr22 21919418 21952874 22q11.22 22q11.22 619309 PPM1F, POPX2, CAMKP Protein phosphatase, magnesium/manganese-dependent, 1F PPM1F 9647 ENSG00000100034 Ppm1f (MGI:1918464) -chr22 21957024 21982786 22q11 22q11.22 603582 TOP3B Topoisomerase, DNA, III, beta TOP3B 8940 ENSG00000100038 Top3b (MGI:1333803) -chr22 22244785 22245514 22q11.2 22q11.22 605141 VPREB1, IGI, VPREB Pre-B lymphocyte gene 1 VPREB1 7441 ENSG00000169575 Vpreb1,Vpreb2 (MGI:98936,MGI:98937) -chr22 22547700 22559293 22q11.22 22q11.22 606021 PRAME, MAPE, OIP4 PRAME nuclear receptor transcriptional regulator PRAME 23532 ENSG00000185686 Pramel13 (MGI:1924882) -chr22 22644613 22647897 22q11.2 22q11.22 612339 GGTLC2, GGTL4 Gamma-glutamyltransferase, light chain 2 GGTLC2 91227 ENSG00000100121 Ggt1 (MGI:95706) -chr22 22822775 22822870 22q11.22 22q11.22 615379 MIR650 Micro RNA 650 MIR650 723778 ENSG00000284049 -chr22 22895374 22895693 22q11.2 22q11.22 147220 IGLC1, IGLC Constant region of lambda light chains IGLC1 3537 ENSG00000211675 several genes -chr22 23059407 23180047 22q11.2 22q11.22-q11.23 605663 RSPH14, RTDR1 Radial spoke head 14 homolog RSPH14 27156 ENSG00000100218 Rsph14 (MGI:1918486) -chr22 23070518 23125036 22q11.2 22q11.22-q11.23 139160 GNAZ Guanine nucleotide-binding protein (G protein), alpha z polypeptide GNAZ 2781 ENSG00000128266 Gnaz (MGI:95780) -chr22 23100000 25500000 22q11 125520 ACF Asymmetric crying facies (Cayler cardiofacial syndrome) 387569 Cayler cardiofacial syndrome, 125520 (2), Autosomal dominant -chr22 23100000 25500000 22q11 115470 CECR, CES Cat eye syndrome partial tetrasomy of 22q11 Cat eye syndrome, 115470 (4), Autosomal dominant -chr22 23100000 25500000 22q11.2 611867 DEL22q11.2, C22DELq11.2 Chromosome 22q11.2 deletion syndrome, distal Chromosome 22q11.2 deletion syndrome, distal, 611867 (4), Autosomal dominant -chr22 23100000 25500000 22q11.2 609029 DER22t11-22 Emanuel syndrome (supernumerary der(22)t(11;22) syndrome) Emanuel syndrome, 609029 (4), Inherited chromosomal imbalance -chr22 23100000 25500000 22q11.2 613700 DER22t8-22 Supernumerary der(22)t(8;22) syndrome Supernumerary der(22)t(8-22) syndrome, 613700 (4) -chr22 23100000 25500000 22q11.2 608363 DUP22q11.2 Chromosome 22q11.2 microduplication syndrome contiguous gene microduplication syndrome Chromosome 22q11.2 microduplication syndrome, 608363 (4), Autosomal dominant, Isolated cases -chr22 23100000 25500000 22q11.2 600436 GSTT1 Glutathione S-transferase, theta-1 GSTT1 2952 -chr22 23100000 25500000 22q11.2 147230 IGLJ@ Immunoglobulin lambda light chain joining gene cluster 8217 nine J-C duplexes -chr22 23100000 25500000 22q11.2 147240 IGLV@ Immunoglobulin lambda light chain variable gene cluster 3546 many genes -chr22 23100000 37200000 22q11-q12 151626 LRE1, L1.2 Line-1.2 retrotransposable element -chr22 23145297 23169284 22q11.2 22q11.23 605662 RAB36 Ras family, member 36 RAB36 9609 ENSG00000100228 Rab36 (MGI:1924127) -chr22 23180508 23318036 22q11.21 22q11.23 151410 BCR, CML, PHL, ALL BCR activator of RhoGEF and GTPase BCR 613 ENSG00000186716 Ph1=t(9;22) (q34.1;q11.21); fused with ABL in CML Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic, 608232 (4); Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic, 613065 (4) Bcr (MGI:88141) -chr22 23573124 23580289 22q11.21 22q11.23 146770 IGLL1, IGO, IGL5, VPREB2, AGM2 Immunoglobulin lambda-like polypeptide 1 (immunoglobulin omega peptide) IGLL1 3543 ENSG00000128322 between BCR2 and BCR4; distal to IGLC Agammaglobulinemia 2, 613500 (3), Autosomal recessive Igll1 (MGI:96529) -chr22 23691012 23699167 22q11.2 22q11.23 612214 RGL4, RGR Ral guanine nucleotide dissociation stimulator-like 4 RGL4 266747 ENSG00000159496 -chr22 23738681 23751111 22q11.2 22q11.23 194544 ZNF70 Zinc finger protein-70 (Cos17) ZNF70 7621 ENSG00000187792 -chr22 23752742 23754424 22q11 22q11.23 605017 VPREB3 Pre-B-lymphocyte gene 3 VPREB3 29802 ENSG00000128218 Vpreb3 (MGI:98938) -chr22 23765833 23767971 22q11.23 22q11.23 615903 CHCHD10, FTDALS2, SMAJ, IMMD Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 CHCHD10 400916 ENSG00000250479 mutation identified in 1 IMMD family ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3), Autosomal dominant; Spinal muscular atrophy, Jokela type, 615048 (3), Autosomal dominant; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3), Autosomal dominant Chchd10 (MGI:2143558) -chr22 23772848 23784315 22q11.2 22q11.23 185261 MMP11, STMY3 Matrix metalloproteinase 11 (stromelysin 3) MMP11 4320 ENSG00000099953 Mmp11 (MGI:97008) -chr22 23786965 23838008 22q11 22q11.23 601607 SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 SMARCB1 6598 ENSG00000099956 Rhabdoid tumors, somatic, 609322 (3); {Schwannomatosis-1, susceptibility to}, 162091 (3), Autosomal dominant; Coffin-Siris syndrome 3, 614608 (3), Autosomal dominant; {Rhabdoid tumor predisposition syndrome 1}, 609322 (3), Autosomal dominant Smarcb1 (MGI:1328366) -chr22 23834497 23839347 22q11.23 22q11.23 610305 DERL3 DER1-like domain family, member 3 DERL3 91319 ENSG00000099958 Derl3 (MGI:1917627) -chr22 23856933 23886311 22q11.2 22q11.23 610367 SLC2A11, GLUT11 Solute carrier family 2 (facilitated glucose transporter), member 11 SLC2A11 66035 ENSG00000133460 -chr22 23894382 23895222 22q11.2 22q11.23 153620 MIF Macrophage migration inhibitory factor MIF 4282 ENSG00000240972 previously assigned to chr.19 {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3) Mif (MGI:96982) -chr22 23971369 23979827 22q11.2 22q11.23 602750 DDT D-dopachrome tautomerase DDT 1652 ENSG00000099977 Ddt (MGI:1298381) -chr22 23980133 23983914 22q11.2 22q11.23 600437 GSTT2 Glutathione S-transferase theta-2 GSTT2 2953 ENSG00000099984 Gstt2 (MGI:106188) -chr22 24011191 24178627 22q11.2 22q11.23 604251 CABIN1, CAIN Calcineurin-binding protein 1 CABIN1 23523 ENSG00000099991 Cabin1 (MGI:1298375) -chr22 24181486 24189105 22q11.23 22q11.23 615825 SUSD2 Sushi domain-containing protein 2 SUSD2 56241 ENSG00000099994 Susd2 (MGI:1918983) -chr22 24219653 24245141 22q11.2 22q11.23 137168 GGT5 Gamma-glutamyltransferase 5 GGT5 2687 ENSG00000099998 Ggt5 (MGI:1346063) -chr22 24270830 24417737 22q11.23 22q11.23 614140 SPECC1L, KIAA0376, OBLFC1, GBBB2, TBHS Sperm antigen with calponin homology and coiled-coil domains 1-like SPECC1L 23384 ENSG00000100014 mutation identified in 1 OBLFC1 patient Opitz GBBB syndrome, type II, 145410 (3), Autosomal dominant; Teebi hypertelorism syndrome, 145420 (3), Autosomal dominant; ?Facial clefting, oblique, 1, 600251 (3), Autosomal dominant Specc1l (MGI:1921642) -chr22 24423596 24442356 22q11.2 22q11.23 102776 ADORA2A Adenosine A2a receptor ADORA2A 135 ENSG00000128271 incorrectly assigned to 11q Adora2a (MGI:99402) -chr22 24495059 24528680 22q11.2 22q11.23 606673 UPB1, BUP1 Beta-ureidopropionase UPB1 51733 ENSG00000100024 Beta-ureidopropionase deficiency, 613161 (3), Autosomal recessive Upb1 (MGI:2143535) -chr22 24540437 24555928 22q11.23 22q11.23 619171 GUCD1 Guanylyl cyclase domain-containing protein 1 GUCD1 83606 ENSG00000138867 Gucd1 (MGI:1916028) -chr22 24555649 24574970 22q11.23 22q11.23 601062 SNRPD3 Small nuclear ribonucleoprotein polypeptide D3 SNRPD3 6634 ENSG00000100028 Snrpd3 (MGI:1914582) -chr22 24583749 24628995 22q11.2 22q11.23 612346 GGT1, GGT, GGTD Gamma-glutamyltransferase 1 GGT1 2678 ENSG00000100031 mutation identified in 1 GGTD family ?Glutathioninuria, 231950 (3), Autosomal recessive Ggt1 (MGI:95706) -chr22 24719033 24774719 22q11.2 22q11.23 610314 PIWIL3 PIWI-like 3 PIWIL3 440822 ENSG00000184571 -chr22 24806210 24927577 22q11.23 22q11.23 611417 SGSM1, KIAA1941 Small G protein signaling modulator 1 SGSM1 129049 ENSG00000167037 Sgsm1 (MGI:107320) -chr22 25194243 25207616 22q11.2-q12.2 22q11.23 123630 CRYBB3, CRYB3, CATCN2, CTRCT22 Crystallin, beta-B3 CRYBB3 1417 ENSG00000100053 Cataract 22, 609741 (3), Autosomal dominant, Autosomal recessive Crybb3 (MGI:102717) -chr22 25211659 25231868 22q11.2-q12.2 22q11.23 123620 CRYBB2, CRYB2, CTRCT3, CCA2 Crystallin, beta-B2 CRYBB2 1415 ENSG00000244752 2nd CRYB2 gene in same region Cataract 3, multiple types, 601547 (3), Autosomal dominant Crybb2 (MGI:88519) -chr22 25500000 31800000 22q12.1-q12.2 606960 ITS Insulinoma tumor suppressor gene locus 282551 Insulinoma (1) -chr22 25564674 25729293 22q11 22q12.1 109636 ADRBK2, BARK2, GRK3 Adrenergic, beta, receptor kinase-2 GRK3 157 ENSG00000100077 Grk3 (MGI:87941) -chr22 25742132 26063846 22q12.1 22q12.1 607295 MYO18B, KFS4 Myosin XVIIIB MYO18B 84700 ENSG00000133454 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3), Autosomal recessive Myo18b (MGI:1921626) -chr22 26169461 26383595 22q12.1 22q12.1 607021 SEZ6L Seizure-related 6-like SEZ6L 23544 ENSG00000100095 Sez6l (MGI:1935121) -chr22 26443108 26483862 22q11.2-q12.2 22q12.1 606682 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 HPS4 89781 ENSG00000100099 Hermansky-Pudlak syndrome 4, 614073 (3), Autosomal recessive Hps4 (MGI:2177742) -chr22 26483866 26494657 22q12.1 22q12.1 602254 SRRD SRR1 domain-containing protein SRRD 402055 ENSG00000100104 Srrd (MGI:1917368) -chr22 26491239 26513590 22q12.1 22q12.1 612747 TFIP11, TIP39, NTR1 Tuftelin-interacting protein 11 TFIP11 24144 ENSG00000100109 Tfip11 (MGI:1930075) -chr22 26521995 26590131 22q12.1 22q12.1 603126 TPST2 Tyrosylprotein phosphotransferase 2 TPST2 8459 ENSG00000128294 Tpst2 (MGI:1309516) -chr22 26599277 26618103 22q11.2-q12.1 22q12.1 600929 CRYBB1, CATCN3, CTRCT17 Crystallin, beta B1 CRYBB1 1414 ENSG00000100122 Cataract 17, multiple types, 611544 (3), Autosomal dominant, Autosomal recessive Crybb1 (MGI:104992) -chr22 26607981 26630671 22q11.2-q13.1 22q12.1 123631 CRYBA4, CTRCT23 Crystallin, beta polypeptide A4 CRYBA4 1413 ENSG00000196431 Cataract 23, 610425 (3) Cryba4 (MGI:102716) -chr22 26657481 26676477 22q12.1 22q12.1 611082 MIAT, C22orf35 MIAT gene MIAT 440823 ENSG00000225783 {Myocardial infarction, susceptibility to}, 608446 (3) Miat (MGI:2444886) -chr22 27748276 27801755 22q12.3-qter 22q12.1 156100 MN1, MGCR, CEBALID MN1 protooncogene, transcriptional regulator MN1 4330 ENSG00000169184 fused with TEL in AML CEBALID syndrome, 618774 (3), Autosomal dominant; Meningioma, 607174 (3), Autosomal dominant Mn1 (MGI:1261813) -chr22 27851668 27919262 22q12.1 22q12.1 606876 PITPNB Phosphatidylinositol transfer protein, beta PITPNB 23760 ENSG00000180957 Pitpnb (MGI:1927542) -chr22 27978013 28679864 22q12.1 22q12.1 615098 TTC28, TPRBK, KIAA1043 Tetratricopeptide repeat domain-containing protein 28 TTC28 23331 ENSG00000100154 Ttc28 (MGI:2140873) -chr22 28687742 28741865 22q12.1 22q12.1 604373 CHEK2, RAD53, CHK2, CDS1, LFS2 Checkpoint kinase 2 CHEK2 11200 ENSG00000183765 {Colorectal cancer, susceptibility to}, 114500 (3), Somatic mutation, Autosomal dominant; Osteosarcoma, somatic, 259500 (3); {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; {Prostate cancer, familial, susceptibility to}, 176807 (3), Somatic mutation, Autosomal dominant; Li-Fraumeni syndrome 2, 609265 (3) Chek2 (MGI:1355321) -chr22 28741991 28757509 22q11-q12 22q12.1 608142 HSC20, HSCB, JAC1 HSCB mitochondrial iron-sulfur cluster cochaperone HSCB 150274 ENSG00000100209 Hscb (MGI:2141135) -chr22 28794559 28800568 22q12 22q12.1 194355 XBP1, XBP2 X-box-binding protein-1 XBP1 7494 ENSG00000100219 pseudogene on chr.5 {Major affective disorder-7, susceptibility to}, 612371 (3) Xbp1 (MGI:98970) -chr22 28800656 29057487 22q12.1 22q12.1 612062 ZNRF3, KIAA1133 Zinc finger and ring finger protein 3 ZNRF3 84133 ENSG00000183579 Znrf3 (MGI:3039616) -chr22 29073034 29168332 22q12.1 22q12.1 609898 KREMEN1, KRM1, ECTD13 Kringle domain-containing transmembrane protein 1 KREMEN1 83999 ENSG00000183762 Ectodermal dysplasia 13, hair/tooth type, 617392 (3), Autosomal recessive Kremen1 (MGI:1933988) -chr22 29205895 29259596 22q12.2 22q12.2 608926 EMID1, EMU1 EMI domain-containing protein 1 EMID1 129080 ENSG00000186998 Emid1 (MGI:2155091) -chr22 29268253 29300522 22q12 22q12.2 133450 EWSR1, EWS EWS RNA-binding protein 1 EWSR1 2130 ENSG00000182944 t(11;22)(q24;q12); t(21;22)(q22;q12) Neuroepithelioma, 612219 (3); Ewing sarcoma, 612219 (3) Ewsr1 (MGI:99960) -chr22 29306649 29312786 22q12 22q12.2 602128 GAS2L1, GAR22 Growth arrest-specific 2 like 1 GAS2L1 10634 ENSG00000185340 Gas2l1 (MGI:1926176) -chr22 29312932 29319617 22q12 22q12.2 602220 RASL10A, RRP22 Ras-like, family 10, member A RASL10A 10633 ENSG00000100276 Rasl10a (MGI:1922918) -chr22 29327679 29388569 22q12 22q12.2 600157 AP1B1, ADTB1, BAM22, CLAPB2, KIDAR Adaptor-related protein complex 1, beta 1 subunit (adaptin, beta) AP1B1 162 ENSG00000100280 Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 (3), Autosomal recessive Ap1b1 (MGI:1096368) -chr22 29387908 29442454 22q12-q13 22q12.2 605968 RFPL1 RET finger protein-like 1 RFPL1 5988 ENSG00000128250 Rfpl4 (MGI:2149590) -chr22 29437014 29442128 22q12-q13 22q12.2 605972 RFPL1S Ret finger protein-like 1, antisense RFPL1S 10740 -chr22 29480217 29491389 22q12.2 22q12.2 162230 NEFH, CMT2CC Neurofilament, heavy polypeptide NEFH 4744 ENSG00000100285 mutation identified in 1 family with ALS susceptibility ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal dominant, Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3), Autosomal dominant Nefh (MGI:97309) -chr22 29505878 29553759 22q12 22q12.2 612733 THOC5, FMIP THO complex 5 THOC5 8563 ENSG00000100296 Thoc5 (MGI:1351333) -chr22 29554807 29581112 22q12.2 22q12.2 603249 NIPSNAP1 Nipsnap homolog 1 NIPSNAP1 8508 ENSG00000184117 Nipsnap1 (MGI:1278344) -chr22 29603555 29698599 22q12.2 22q12.2 607379 NF2 Merlin NF2 4771 ENSG00000186575 loss of heterozygosity Neurofibromatosis, type 2, 101000 (3), Autosomal dominant; Meningioma, NF2-related, somatic, 607174 (3); Schwannomatosis, somatic, 162091 (3) Nf2 (MGI:97307) -chr22 29720002 29731832 22q12.2 22q12.2 618759 CABP7, CALN2 Calcium-binding protein 7 CABP7 164633 ENSG00000100314 Cabp7 (MGI:2183437) -chr22 29767368 29770412 22cen-q12 22q12.2 610843 UQCR10, UCRC Ubiquinol-cytochrome C reductase, complex III subunit X UQCR10 29796 ENSG00000184076 Uqcr10 (MGI:1913402) -chr22 29788607 29838281 22q12.2 22q12.2 614216 ASCC2, p100 Activating signal cointegrator 1 complex, subunit 2 ASCC2 84164 ENSG00000100325 Ascc2 (MGI:1922702) -chr22 29883173 30030867 22q12 22q12.2 603558 MTMR3 Myotubularin-related protein 3 MTMR3 8897 ENSG00000100330 Mtmr3 (MGI:1921552) -chr22 30080068 30207424 22q12.2 22q12.2 618842 HORMAD2 HORMA domain-containing protein 2 HORMAD2 150280 ENSG00000176635 Hormad2 (MGI:1923078) -chr22 30240452 30257486 22q12.1-q12.2 22q12.2 159540 LIF, HILDA Leukemia inhibitory factor (cholinergic differentiation factor) LIF 3976 ENSG00000128342 distal to ES Lif (MGI:96787) -chr22 30262828 30266850 22q12.1-q12.2 22q12.2 165095 OSM Oncostatin M OSM 5008 ENSG00000099985 10kb from LIF Osm (MGI:104749) -chr22 30285116 30289504 22q12.2 22q12.2 617034 CASTOR1, GATSL3 Cytosolic arginine sensor for mTORC1 subunit 1 CASTOR1 652968 ENSG00000239282 Castor1 (MGI:1919212) -chr22 30291989 30326940 22q12.1-qter 22q12.2 610020 TBC1D10A, EPI64 TBC1 domain family, member 10A TBC1D10A 83874 ENSG00000099992 Tbc1d10a (MGI:2144164) -chr22 30331987 30356893 22q12.2 22q12.2 605595 SF3A1, SF3A120, SAP114, PRP21 Splicing factor 3A, subunit 1 SF3A1 10291 ENSG00000099995 Sf3a1 (MGI:1914715) -chr22 30356623 30378672 22q12.2 22q12.2 619391 CCDC157 Coiled-coil domain-containing protein 157 CCDC157 550631 ENSG00000187860 Ccdc157 (MGI:3041210) -chr22 30397017 30425302 22q12.1-qter 22q12.2 607558 SEC14L2, TAP, KIAA1186 SEC14-like lipid-binding protein 2 SEC14L2 23541 ENSG00000100003 Sec14l2 (MGI:1915065) -chr22 30425767 30429053 22q12.2 22q12.2 610235 MTFP1 Mitochondrial fission process 1 MTFP1 51537 ENSG00000242114 Mtfp1 (MGI:1916686) -chr22 30447660 30472016 22q12 22q12.2 612824 SEC14L3, TAP2 SEC14-like lipid-binding protein 3 SEC14L3 266629 ENSG00000100012 Sec14l3 (MGI:3617848) -chr22 30488149 30505710 22q12 22q12.2 612825 SEC14L4, TAP3 SEC14-like lipid-binding protein 4 SEC14L4 284904 ENSG00000133488 Sec14l4 (MGI:2144095) -chr22 30554634 30574664 22q12.2 22q12.2 602300 GAL3ST1, CST Galactose-3-O-sulfotransferase 1 GAL3ST1 9514 ENSG00000128242 Gal3st1 (MGI:1858277) -chr22 30576624 30607012 22q12.1 22q12.2 605819 PES1, PES Pescadillo, zebrafish, homolog of, 1 PES1 23481 ENSG00000100029 Pes1 (MGI:1890613) -chr22 30607173 30627270 22q11.2-qter 22q12.2 613441 TCN2, TC2 Transcobalamin II TCN2 6948 ENSG00000185339 linked to P1 Transcobalamin II deficiency, 275350 (3), Autosomal recessive Tcn2 (MGI:98534) -chr22 30652050 30667886 22q12.2 22q12.2 611446 DUSP18 Dual-specificity phosphatase 18 DUSP18 150290 ENSG00000167065 Dusp18 (MGI:1922469) -chr22 30693781 30907812 22q12 22q12.2 606729 OSBP2, ORP4, KIAA1664 Oxysterol-binding protein 2 OSBP2 23762 ENSG00000184792 Osbp2 (MGI:1921559) -chr22 30925129 30968773 22q12.2 22q12.2 616661 MORC2, ZCW3, ZCWCC1, KIAA0852, CMT2Z, DIGFAN MORC family CW-type zinc finger protein 2 MORC2 22880 ENSG00000133422 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3), Autosomal dominant; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, 619090 (3), Autosomal dominant Morc2a,Morc2b (MGI:1921772,MGI:3045293) -chr22 30969210 30979394 22q12.2 22q12.2 614971 TUG1 Taurine-upregulated gene 1, noncoding TUG1 55000 ENSG00000253352 Tug1 (MGI:2144114) -chr22 31064117 31104623 22q12.3 22q12.2 602127 SMTN Smoothelin SMTN 6525 ENSG00000183963 Smtn (MGI:1354727) -chr22 31104776 31107567 22q12.2 22q12.2 610918 SELENOM, SELM, SEPM Selenoprotein M SELENOM 140606 ENSG00000198832 Selenom (MGI:2149786) -chr22 31107735 31134696 22q11.2-q13.2 22q12.2 606481 INPP5J, PIB5PA, PIPP Inositol polyphosphate-5-phosphatase J INPP5J 27124 ENSG00000185133 Inpp5j (MGI:2158663) -chr22 31134806 31140507 22q11.2-q13.2 22q12.2 611651 PLA2G3, SPLA2III Phospholipase A2, group III PLA2G3 50487 ENSG00000100078 Pla2g3 (MGI:2444945) -chr22 31212297 31280079 22q12.2 22q12.2 601988 LIMK2 LIM domain kinase 2 LIMK2 3985 ENSG00000182541 Limk2 (MGI:1197517) -chr22 31281592 31292533 22q12.2 22q12.2 619158 PIK3IP1 Phosphatidylinositol 3-kinase-interacting protein 1 PIK3IP1 113791 ENSG00000100100 Pik3ip1 (MGI:1917016) -chr22 31325803 31346345 22q12 22q12.2 605165 ZNF278, PATZ, MAZR Zinc finger protein-278 PATZ1 23598 ENSG00000100105 Patz1 (MGI:1891832) -chr22 31399603 31434451 22q12.2 22q12.2 603952 DRG1, NEDD3 Developmentally regulated GTP-binding protein 1 DRG1 4733 ENSG00000185721 Drg1 (MGI:1343297) -chr22 31434647 31489949 22q11.2 22q12.2 607445 EIF4ENIF1 Eukaryotic translation initiation factor 4E nuclear import factor 1 EIF4ENIF1 56478 ENSG00000184708 Eif4enif1 (MGI:1921453) -chr22 31496138 31618587 22q12.2 22q12.2 612765 SFI1, KIAA0542 SFI1 centrin-binding protein SFI1 9814 ENSG00000198089 Sfi1 (MGI:1926137) -chr22 31618490 31662563 22q12 22q12.2 612770 PISD, PSD, PSSC, LIBF Phosphatidylserine decarboxylase PISD 23761 ENSG00000241878 Liberfarb syndrome, 618889 (3), Autosomal recessive Pisd (MGI:2445114) -chr22 31753967 31908032 22q12.2-q12.3 22q12.2-q12.3 614191 DEPDC5, KIAA0645, FFEVF1 DEP domain-containing protein 5 DEPDC5 9681 ENSG00000100150 Epilepsy, familial focal, with variable foci 1, 604364 (3), Autosomal dominant Depdc5 (MGI:2141101) -chr22 31800000 37200000 22q12 613106 BRV2 Vertigo, benign recurrent, 2 100313948 Vertigo, benign recurrent, 2, 613106 (2) -chr22 31800000 50818468 22q12-q13 603116 CDAGS Craniosynostosis, anal anomalies, and porokeratosis syndrome 574043 CDAGS syndrome, 603116 (2), Autosomal recessive -chr22 31800000 50818468 22q12-q13 613284 HCHGQ3 Hematocrit/hemoglobin quantitative trait locus 3 100381206 associated with rs855791 [Hematocrit/hemoglobin quantitative trait locus 3], 613284 (2) -chr22 31800000 37200000 22q12.3 609558 HPC6 Prostate cancer, hereditary, 6 100188789 between D22S1265 and D22S277 {Prostate cancer, susceptibility to}, 609558 (2) -chr22 31800000 37200000 22q12 608207 KAZA1 Kala-azar (visceral leishmaniasis), susceptibility to, 1 387582 {Kala-azar, susceptibility to, 1}, 608207 (2) -chr22 31800000 40600000 22q12.3-q13.1 613689 MDNS Mammary-digital-nail syndrome 100529148 max lod at D22S277, D22S1142, D22S683, D22S283 Mammary-digital-nail syndrome, 613689 (2), Autosomal dominant -chr22 31800000 37200000 22q12 611004 SQTL2 Smoking as a quantitative trait locus 2 100188828 max lod at D22S315 {Smoking as a quantitative trait locus 2}, 611004 (2) -chr22 31944534 31957602 22q12 22q12.3 113508 YWHAH, YWHA1 Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide 22 YWHAH 7533 ENSG00000128245 Ywhah (MGI:109194) -chr22 32043049 32113028 22q13.1 22q12.3 182380 SLC5A1, SGLT1 Solute carrier family 5 (sodium/glucose transporter), member 1 SLC5A1 6523 ENSG00000100170 Glucose/galactose malabsorption, 606824 (3), Autosomal recessive Slc5a1 (MGI:107678) -chr22 32190434 32205072 22q12-q13 22q12.3 605969 RFPL2 RET finger protein-like 2 RFPL2 10739 ENSG00000128253 Rfpl4 (MGI:2149590) -chr22 32218422 32355056 22q12.3 22q12.3 618633 SLC5A4 Solute carrier family 5 (low-affinity glucose cotransporter), member 4 SLC5A4 6527 ENSG00000100191 Slc5a4b,Slc5a4a (MGI:1890478,MGI:1927848) -chr22 32354884 32361160 22q12-q13 22q12.3 605970 RFPL3 RET finger protein-like 3 RFPL3 10738 ENSG00000128276 Rfpl4 (MGI:2149590) -chr22 32359905 32371263 22q12-q13 22q12.3 605971 RFPL3S Ret finger protein-like 3, antisense RFPL3S 10737 ENSG00000205853 -chr22 32387581 32412246 22q12.3 22q12.3 613901 RTCB, C22orf28, HSPC117 RNA 2-prime, 3-prime cyclic phosphate and 5-prime-OH ligase RTCB 51493 ENSG00000100220 Rtcb (MGI:106379) -chr22 32413844 32464464 22q13 22q12.3 614109 BPIFC, BPIL2 BPI fold-containing protein, family C BPIFC 254240 ENSG00000184459 Bpifc (MGI:3026884) -chr22 32474681 32498828 22q12-q13 22q12.3 605648 FBXO7, FBX7, FBX, PKPS, PARK15 F-box only protein 7 FBXO7 25793 ENSG00000100225 Parkinson disease 15, autosomal recessive, 260300 (3), Autosomal recessive Fbxo7 (MGI:1917004) -chr22 32507819 33058380 22q12.3 22q12.3 602705 SYN3 Synapsin III SYN3 8224 ENSG00000185666 ?relation to schizophrenia Syn3 (MGI:1351334) -chr22 32801704 32863040 22q12.1-q13.2 22q12.3 188826 TIMP3, SFD Tissue inhibitor of metalloproteinase-3 TIMP3 7078 ENSG00000100234 Sorsby fundus dystrophy, 136900 (3), Autosomal dominant Timp3 (MGI:98754) -chr22 33162236 33922823 22q12.3-q13.1 22q12.3 603590 LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6 Acetylglucosaminyltransferase-like protein LARGE1 9215 ENSG00000133424 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3), Autosomal recessive Large1 (MGI:1342270) -chr22 35066157 35087386 22q12.3 22q12.3 612019 ISX, RAXLX Intestine-specific homeobox ISX 91464 ENSG00000175329 Isx (MGI:1918847) -chr22 35256696 35295806 22q13.1 22q12.3 604702 HMGXB4, HMG2L1 HMG box domain-containing 4 HMGXB4 10042 ENSG00000100281 Hmgxb4 (MGI:1918073) -chr22 35299274 35347980 22q13.1 22q12.3 604700 TOM1 Target of MYB1 membrane trafficking protein TOM1 10043 ENSG00000100284 Tom1 (MGI:1338026) -chr22 35381095 35394206 22q12 22q12.3 141250 HMOX1, HMOX1D Heme oxygenase 1 HMOX1 3162 ENSG00000100292 Heme oxygenase-1 deficiency, 614034 (3); {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3) Hmox1 (MGI:96163) -chr22 35400132 35454941 22q13.1 22q12.3 602696 MCM5, CDC46, MGORS8 Minichromosome maintenance, S. cerevisiae, homolog of, 5 MCM5 4174 ENSG00000100297 mutation identified in 1 MGORS8 patient ?Meier-Gorlin syndrome 8, 617564 (3), Autosomal recessive Mcm5 (MGI:103197) -chr22 35532805 35554002 22q12.3 22q12.3 612842 RASD2, RHES, TEM2 RASD family, member 2 RASD2 23551 ENSG00000100302 Rasd2 (MGI:1922391) -chr22 35606763 35623353 22q11.2-q13 22q12.3 160000 MB Myoglobin MB 4151 ENSG00000198125 Mb (MGI:96922) -chr22 35648315 35668405 22q12.3 22q12.3 607256 APOL6 Apolipoprotein L6 APOL6 80830 ENSG00000221963 Apol6 (MGI:1919189) -chr22 35708423 35730324 22q12.3 22q12.3 607255 APOL5 Apolipoprotein L5 APOL5 80831 ENSG00000128313 -chr22 35738735 36028891 22q13.1 22q12.3 612149 RBFOX2, RBM9, FOX2, RTA RNA binding protein, fox-1 homolog 2 RBFOX2 23543 ENSG00000100320 Rbfox2 (MGI:1933973) -chr22 36140322 36166176 22q12.3 22q12.3 607253 APOL3 Apolipoprotein L3 APOL3 80833 ENSG00000128284 Apol7c,Apol7e,Apol11a,Apol8,Apol10b,Apol11b,Apol10a,Apol9b,Apol9a,Apol7b,Apol7a (MGI:3649094,MGI:1923011,MGI:3036238,MGI:2444921,MGI:3043522,MGI:1920912,MGI:3036248,MGI:3583950,MGI:3704456,MGI:1919148,MGI:3606001) -chr22 36189127 36204832 22q12.3 22q12.3 607254 APOL4 Apolipoprotein L4 APOL4 80832 ENSG00000100336 {Schizophrenia}, 181500 (1), Autosomal dominant Apol7c,Apol7e,Apol11a,Apol8,Apol10b,Apol11b,Apol10a,Apol9a,Apol7b,Apol7a (MGI:3649094,MGI:1923011,MGI:3036238,MGI:2444921,MGI:3043522,MGI:1920912,MGI:3036248,MGI:3583950,MGI:3704456,MGI:3606001) -chr22 36226208 36239953 22q12.3 22q12.3 607252 APOL2 Apolipoprotein L2 APOL2 23780 ENSG00000128335 {Schizophrenia}, 181500 (1), Autosomal dominant Apol7c,Apol7e,Apol11a,Apol10b,Apol11b,Apol10a,Apol9a,Apol7b,Apol7a (MGI:3649094,MGI:1923011,MGI:3036238,MGI:3043522,MGI:1920912,MGI:3036248,MGI:3583950,MGI:3704456,MGI:3606001) -chr22 36253070 36267530 22q12.3 22q12.3 603743 APOL1, FSGS4 Apolipoprotein L1 APOL1 8542 ENSG00000100342 {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3); {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3) Apol7c,Apol7e,Apol11a,Apol8,Apol10b,Apol11b,Apol10a,Apol9a,Apol7b,Apol7a (MGI:3649094,MGI:1923011,MGI:3036238,MGI:2444921,MGI:3043522,MGI:1920912,MGI:3036248,MGI:3583950,MGI:3704456,MGI:3606001) -chr22 36281279 36387966 22q11.2 22q12.3 160775 MYH9, MHA, FTNS, DFNA17, BDPLT6, MATINS Myosin, heavy polypeptide-9, nonmuscle MYH9 4627 ENSG00000100345 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3), Autosomal dominant; Deafness, autosomal dominant 17, 603622 (3), Autosomal dominant Myh9 (MGI:107717) -chr22 36467035 36481671 22q12.3 22q12.3 609063 TXN2, TRX2, MTRX, COXPD29 Thioredoxin 2 TXN2 25828 ENSG00000100348 mutation identified in 1 COXPD29 patient ?Combined oxidative phosphorylation deficiency 29, 616811 (3), Autosomal recessive Txn2 (MGI:1929468) -chr22 36487189 36507039 22q12.3 22q12.3 613777 FOXRED2, ERFAD FAD-dependent oxidoreductase domain-containing protein 2 FOXRED2 80020 ENSG00000100350 Foxred2 (MGI:106315) -chr22 36510854 36529165 22q13.1 22q12.3 603915 EIF3D, EIF3S7 Eukaryotic translation initiation factor 3, subunit D EIF3D 8664 ENSG00000100353 Eif3d (MGI:1933181) -chr22 36560856 36703751 22q13.1 22q12.3 602911 CACNG2, MRD10 Calcium channel, voltage-dependent, gamma-2 subunit (stargazin) CACNG2 10369 ENSG00000166862 mutation identified one MRD10 patient ?Mental retardation, autosomal dominant 10, 614256 (3), Autosomal dominant Cacng2 (MGI:1316660) -chr22 36758207 36776118 22q12.3 22q12.3 615870 IFT27, RABL4, BBS19 Intraflagellar transport 27 IFT27 11020 ENSG00000100360 Bardet-Biedl syndrome 19, 615996 (3), Autosomal recessive Ift27 (MGI:1914292) -chr22 36800702 36819498 22q12-q13.1 22q12.3 168890 PVALB Parvalbumin PVALB 5816 ENSG00000100362 ?role in DiGeorge syndrome Pvalb (MGI:97821) -chr22 36861005 36878014 22q13.1 22q12.3 601488 NCF4, P40PHOX, CGD3 Neutrophil cytosolic factor-4 NCF4 4689 ENSG00000100365 Chronic granulomatous disease 3, autosomal recessive, 613960 (3), Autosomal recessive Ncf4 (MGI:109186) -chr22 36913573 36940448 22q12.2-q13.1 22q12.3 138981 CSF2RB, SMDP5 Colony-stimulating factor-2 receptor, beta, low-affinity CSF2RB 1439 ENSG00000100368 Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3), Autosomal recessive Csf2rb2,Csf2rb (MGI:1339759,MGI:1339760) -chr22 37010858 37020182 22q11.2-qter 22q12.3 180370 TST, RDS Thiosulfate sulfurtransferase (Rhodanese) TST 7263 ENSG00000128311 Tst (MGI:98852) -chr22 37019741 37029814 22q11.2-qter 22q12.3 602496 MPST Mercaptopyruvate sulfurtransferase MPST 4357 ENSG00000128309 Mpst (MGI:2179733) -chr22 37051724 37063389 22q12.3 22q12.3 616386 KCTD17 Potassium channel tetramerization domain-containing protein 17 KCTD17 79734 ENSG00000100379 Dystonia 26, myoclonic, 616398 (3), Autosomal dominant Kctd17 (MGI:1920094) -chr22 37065435 37110624 22q12-q13 22q12.3 609862 TMPRSS6, IRIDA Transmembrane protease, serine 6 (matriptase 2) TMPRSS6 164656 ENSG00000187045 Iron-refractory iron deficiency anemia, 206200 (3), Autosomal recessive Tmprss6 (MGI:1919003) -chr22 37125837 37175117 22q11.2-q13 22q12.3 146710 IL2RB, IMD63 Interleukin-2 receptor, beta polypeptide IL2RB 3560 ENSG00000100385 Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495 (3), Autosomal recessive Il2rb (MGI:96550) -chr22 37180165 37199422 22q12.3 22q12.3 614910 C1QTNF6, CTFP6 C1q- and tumor necrosis factor-related protein 6 C1QTNF6 114904 ENSG00000133466 C1qtnf6 (MGI:1919959) -chr22 37204236 37220450 22q13.1 22q13.1 182453 SSTR3 Somatostatin receptor-3 SSTR3 6753 ENSG00000278195 Sstr3 (MGI:98329) -chr22 37225269 37244268 22q12.3-q13.2 22q13.1 602049 RAC2, IMD73A, IMD73B, IMD73C Rac family small GTPase 2 RAC2 5880 ENSG00000128340 mutation identified in 1 IMD73C family Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis, 608203 (3), Autosomal dominant; ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia, 618987 (3); Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia, 618986 (3) Rac2 (MGI:97846) -chr22 37282507 37315340 22q12.3-q13.1 22q13.1 606514 CYTH4, PSCD4, CYT4 Cytohesin 4 CYTH4 27128 ENSG00000100055 Cyth4 (MGI:2441702) -chr22 37469062 37486383 22q12 22q13.1 602577 MFNG Manic fringe MFNG 4242 ENSG00000100060 Mfng (MGI:1095404) -chr22 37490361 37519414 22q13.1 22q13.1 607209 CARD10, CARMA3, BIMP1 Caspase recruitment domain-containing protein 10 CARD10 29775 ENSG00000100065 Card10 (MGI:2146012) -chr22 37560479 37569404 22q13.1 22q13.1 606084 CDC42EP1, MSE55, BORG5, CEP1 CDC42 effector protein 1 CDC42EP1 11135 ENSG00000128283 Cdc42ep1 (MGI:1929763) -chr22 37570247 37580086 22q13.1 22q13.1 150571 LGALS2 Lectin, galactoside-binding, soluble, 2 LGALS2 3957 ENSG00000100079 {Myocardial infarction, susceptibility to}, 608446 (3) Lgals2 (MGI:895068) -chr22 37608473 37633563 22q13.31 22q13.1 606004 GGA1 Golgi associated, gamma adaptin ear containing, ARF binding protein 1 GGA1 26088 ENSG00000100083 Gga1 (MGI:2146207) -chr22 37639668 37656116 22q13.1 22q13.1 617368 SH3BP1, ARHGAP43, BGIN SH3 domain-binding protein 1 SH3BP1 23616 ENSG00000100092 Sh3bp1 (MGI:104603) -chr22 37658722 37666931 22q13.1 22q13.1 609246 PDXP, CIN Pyridoxal phosphatase PDXP 57026 ENSG00000241360 Pdxp (MGI:1919282) -chr22 37675635 37679801 22q12-q13.1 22q13.1 150570 LGALS1 Lectin, galactose-binding, soluble, 1 LGALS1 3956 ENSG00000100097 Lgals1 (MGI:96777) -chr22 37697047 37776555 22q13.1 22q13.1 609761 TRIOBP, KIAA1662 Trio- and F-actin-binding protein TRIOBP 11078 ENSG00000100106 Deafness, autosomal recessive 28, 609823 (3), Autosomal recessive Triobp (MGI:1349410) -chr22 37805228 37807431 22q13.1 22q13.1 142708 H1F0, H1FV H1 histone family, member 0 H1-0 3005 ENSG00000189060 H1f0 (MGI:95893) -chr22 37807893 37817182 22q12-q13 22q13.1 607422 GCAT, KBL Glycine C-acetyltransferase GCAT 23464 ENSG00000100116 Gcat (MGI:1349389) -chr22 37823381 37825484 22q13.1 22q13.1 603692 GALR3 Galanin receptor 3 GALR3 8484 ENSG00000128310 Galr3 (MGI:1329003) -chr22 37830852 37849340 22q13.1 22q13.1 613383 ANKRD54, LIAR Ankyrin repeat domain-containing protein 54 ANKRD54 129138 ENSG00000100124 Ankrd54 (MGI:2444209) -chr22 37847677 37847773 22q13.1 22q13.1 613556 MIR659 Micro RNA 659 MIR659 724029 ENSG00000207696 -chr22 37848867 37889406 22q13.1 22q13.1 619197 EIF3L, HSPC021 Eukaryotic translation initiation factor 3, subunit L EIF3L 51386 ENSG00000100129 Eif3l (MGI:2386251) -chr22 37953662 38041914 22q13.1 22q13.1 604414 POLR2F Polymerase II, RNA, subunit F POLR2F 5435 ENSG00000100142 Polr2f (MGI:1349393) -chr22 37972311 37984554 22q13 22q13.1 602229 SOX10, WS4, WS4C, PCWH SRY (sex-determining region Y)-box-10 SOX10 6663 ENSG00000100146 megacolon and spotting in mice Waardenburg syndrome, type 4C, 613266 (3), Autosomal dominant; PCWH syndrome, 609136 (3), Autosomal dominant; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3), Autosomal dominant Sox10 (MGI:98358) -chr22 38056310 38075703 22q12.3-q13.2 22q13.1 605926 PICK1, PRKCABP Protein interacting with C kinase 1 PICK1 9463 ENSG00000100151 Pick1 (MGI:894645) -chr22 38078136 38084183 22q12.3-q13.2 22q13.1 610409 SLC16A8, MCT3 Solute carrier family 16 (monocarboxylic acid transporter), member 8 SLC16A8 23539 ENSG00000100156 Slc16a8 (MGI:1929519) -chr22 38084888 38110943 22q13.1 22q13.1 617536 BAIAP2L2, PINKBAR Bai1-associated protein 2-like 2 BAIAP2L2 80115 ENSG00000128298 Baiap2l2 (MGI:2652819) -chr22 38111494 38181829 22q13.1 22q13.1 603604 PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14 Phospholipase A2, group VI PLA2G6 8398 ENSG00000184381 Parkinson disease 14, autosomal recessive, 612953 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 2B, 610217 (3), Autosomal recessive; Infantile neuroaxonal dystrophy 1, 256600 (3), Autosomal recessive Pla2g6 (MGI:1859152) -chr22 38201993 38216510 22q12.2-q13.2 22q13.1 604877 MAFF MAF bZIP transcription factor F MAFF 23764 ENSG00000185022 Maff (MGI:96910) -chr22 38290690 38318083 22q12-q13 22q13.1 600863 CSNK1E Casein kinase-1, epsilon CSNK1E 1454 ENSG00000213923 Csnk1e (MGI:1351660) -chr22 38426326 38455198 22q13.1 22q13.1 600504 KCNJ4, HIR Potassium inwardly-rectifying channel, subfamily J, member 4 KCNJ4 3761 ENSG00000168135 Kcnj4 (MGI:104743) -chr22 38483437 38506310 22q13.1 22q13.1 608469 DDX17, RH70, P72 DEAD-box helicase 17 DDX17 10521 ENSG00000100201 Ddx17 (MGI:1914290) -chr22 38509153 38570285 22q13.1 22q13.1 602721 DMC1, LIM15 DNA meiotic recombinase 1 DMC1 11144 ENSG00000100206 Dmc1 (MGI:105393) -chr22 38656637 38673849 22q12-q13 22q13.1 607757 CBY1, C22orf2 Chibby family, member 1 CBY1 25776 ENSG00000100211 Cby1 (MGI:1920989) -chr22 38681956 38685420 22q12-q13 22q13.1 607046 TOMM22, TOM22 Translocase of outer mitochondrial membrane 22 TOMM22 56993 ENSG00000100216 Tomm22 (MGI:2450248) -chr22 38683915 38701402 22q13.1 22q13.1 615323 JOSD1, KIAA0063 Josephin domain-containing protein 1 JOSD1 9929 ENSG00000100221 Josd1-ps,Josd1 (MGI:3704290,MGI:1921408) -chr22 38704560 38738264 22q12-q13.1 22q13.1 602245 GTPBP1, GP1 GTP-binding protein 1 GTPBP1 9567 ENSG00000100226 Gtpbp1 (MGI:109443) -chr22 38734726 38756013 22q12-q13 22q13.1 613569 SUN2, UNC84B, KIAA0668 SAD1 and UNC84 domain-containing protein 2 SUN2 25777 ENSG00000100242 Sun2 (MGI:2443011) -chr22 38778507 38794142 22q13.1 22q13.1 610565 DNAL4, MRMV3 Dynein, axonemal, light chain 4 DNAL4 10126 ENSG00000100246 mutation identified in 1 MRMV3 family ?Mirror movements 3, 616059 (3), Autosomal recessive Dnal4 (MGI:1859217) -chr22 38818451 38844027 22q13.1 22q13.1 609474 NPTXR Neuronal pentrasin receptor NPTXR 23467 ENSG00000221890 Nptxr,Npcd (MGI:3845555,MGI:1920590) -chr22 38861421 38872215 22q13.1 22q13.1 617438 CBX6 Chromobox 6 CBX6 23466 ENSG00000183741 Cbx6 (MGI:3512628) -chr22 38957608 38963183 22q13 22q13.1 607109 APOBEC3A, PHRBN Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (phorbolin 1) APOBEC3A 200315 ENSG00000128383 -chr22 38982346 38992778 22q13 22q13.1 607110 APOBEC3B, PHRBNL Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B APOBEC3B 9582 ENSG00000179750 Apobec3 (MGI:1933111) -chr22 39014235 39020351 22q13 22q13.1 607750 APOBEC3C Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3C APOBEC3C 27350 ENSG00000244509 -chr22 39019080 39055971 22q12-q13.2 22q13.1 608993 APOBEC3F Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3F APOBEC3F 200316 ENSG00000128394 Apobec3 (MGI:1933111) -chr22 39021126 39033276 22q13.1 22q13.1 609900 APOBEC3D Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3D APOBEC3D 140564 ENSG00000243811 Apobec3 (MGI:1933111) -chr22 39077004 39087742 22q12-q13.2 22q13.1 607113 APOBEC3G, MDS019, CEM15, FLJ12740 Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3G APOBEC3G 60489 ENSG00000239713 -chr22 39097202 39104066 22q13.1 22q13.1 610976 APOBEC3H, ARP10 Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H APOBEC3H 164668 ENSG00000100298 -chr22 39130771 39152679 22q13.1 22q13.1 608457 CBX7 Chromobox 7 CBX7 23492 ENSG00000100307 Cbx7 (MGI:1196439) -chr22 39223358 39244981 22q12.3-q13.1 22q13.1 190040 PDGFB, SIS, IBGC5 Platelet-derived growth factor, beta polypeptide (oncogene SIS) PDGFB 5155 ENSG00000100311 fused with COL1A1 in DFSP Meningioma, SIS-related, 607174 (3), Autosomal dominant; Basal ganglia calcification, idiopathic, 5, 615483 (3), Autosomal dominant; Dermatofibrosarcoma protuberans, 607907 (3) Pdgfb (MGI:97528) -chr22 39312881 39319622 22q 22q13.1 604163 RPL3 Ribosomal protein L3 RPL3 6122 ENSG00000100316 Rpl3 (MGI:1351605) -chr22 39313818 39313910 22q13 22q13.1 611071 SNORD83B, RNU83B Small nucleolar RNA, C/D box, 83B SNORD83B 116938 ENSG00000209480 -chr22 39315212 39315306 22q13 22q13.1 611070 SNORD83A, RNU83A Small nucleolar RNA, C/D box, 83A SNORD83A 116937 ENSG00000209482 -chr22 39316841 39316895 22q13 22q13.1 611069 RNU86 RNA, U86 small nucleolar SNORD139 116936 -chr22 39319051 39319112 22q13 22q13.1 611068 SNORD43, RNU43 Small nucleolar RNA, C/D box, 43 SNORD43 26807 ENSG00000263764 -chr22 39349990 39385574 22q13 22q13.1 603925 SYNGR1 Synaptogyrin 1 SYNGR1 9145 ENSG00000100321 Syngr1 (MGI:1328323) -chr22 39399779 39437131 22q13.1 22q13.1 602615 TAB1, MAP3K7IP1 Tak1 (MAP3K7) binding protein 1 TAB1 10454 ENSG00000100324 Tab1 (MGI:1913763) -chr22 39457011 39492193 22q13.1 22q13.1 604621 MGAT3, GNT3 Beta-1,4-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase MGAT3 4248 ENSG00000128268 Mgat3 (MGI:104532) -chr22 39500099 39518132 22q13.1 22q13.1 615497 MEIF1, SMCR7L, MID51 Mitochondrial elongation factor 1 MIEF1 54471 ENSG00000100335 Mief1 (MGI:2146020) -chr22 39514493 39522685 22q13.1 22q13.1 604064 ATF4, CREB2, TAXREB67 Activating transcription factor 4 ATF4 468 ENSG00000128272 Atf4 (MGI:88096) -chr22 39529092 39532747 22q13.1 22q13.1 610225 RPS19BP1, S19BP, MGC52010 Ribosomal protein S19 binding protein 1 RPS19BP1 91582 ENSG00000187051 Rps19bp1 (MGI:1913788) -chr22 39570752 39689736 22q13.1 22q13.1 608230 CACNA1I, KIAA1120 Calcium channel, voltage-dependent, T type, alpha-1I subunit CACNA1I 8911 ENSG00000100346 Cacna1i (MGI:2178051) -chr22 39901072 39973720 22q12-qter 22q13.1 604518 GRAP2, GRID GRB2-related adaptor protein 2 GRAP2 9402 ENSG00000100351 Grap2 (MGI:1333842) -chr22 40044833 40335807 22q13.1 22q13.1 610740 TNRC6B, KIAA1093, GDSBA Trinucleotide repeat-containing gene 6B TNRC6B 23112 ENSG00000100354 Global developmental delay with speech and behavioral abnormalities, 619243 (3), Autosomal dominant Tnrc6b (MGI:2443730) -chr22 40346499 40387526 22q13.1 22q13.1 608222 ADSL Adenylosuccinate lyase ADSL 158 ENSG00000239900 ade(-)I; bifunctional Adenylosuccinase deficiency, 103050 (3), Autosomal recessive Adsl (MGI:103202) -chr22 40370583 40410288 22q13.1 22q13.1 610440 SGSM3, RUTBC3, MAP, RUSC3 Small G protein signaling modulator 3 SGSM3 27352 ENSG00000100359 Sgsm3 (MGI:1916329) -chr22 40410288 40636718 22q13 22q13.1-q13.2 606078 MKL1, AMKL, MAL Megakaryoblastic leukemia 1 gene MRTFA 57591 ENSG00000196588 mutation identified in 1 IMD66 patient ?Immunodeficiency 66, 618847 (3), Autosomal recessive Mrtfa (MGI:2384495) -chr22 40679483 40682811 22q13.3 22q13.2 601751 MCHR1, GPR24, SLC1 Melanin-concentrating hormone receptor 1 MCHR1 2847 ENSG00000128285 Mchr1 (MGI:2180756) -chr22 40769629 40819345 22q13 22q13.2 606795 SLC25A17, PMP34 Solute carrier family 25 (mitochondrial carrier), member 17 (peroxisomal membrane protein, 34kD) SLC25A17 10478 ENSG00000100372 Slc25a17 (MGI:1342248) -chr22 40824534 40856638 22q13 22q13.2 606796 ST13, P48, HOP Suppression of tumorigenicity 13 ST13 6767 ENSG00000100380 St13 (MGI:1917606) -chr22 40857147 40932814 22q13.31-q13.33 22q13.2 613553 XPNPEP3, APP3, NPHPL1 X-prolyl aminopeptidase 3 XPNPEP3 63929 ENSG00000196236 Nephronophthisis-like nephropathy 1, 613159 (3), Autosomal recessive Xpnpep3 (MGI:2445217) -chr22 40859548 40862112 22q13.2 22q13.2 611336 DNAJB7, DJ5, HSC3 DNAJ/HSP40 homolog, subfamily B, member 7 DNAJB7 150353 ENSG00000172404 Dnajb7 (MGI:1914012) -chr22 40951377 40973308 22q13.2 22q13.2 603814 RBX1, ROC1 RING-box 1 RBX1 9978 ENSG00000100387 Rbx1 (MGI:1891829) -chr22 41092591 41180076 22q13 22q13.2 602700 EP300, RSTS2, MKHK2 E1A-binding protein, 300kD EP300 2033 ENSG00000100393 Menke-Hennekam syndrome 2, 618333 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Rubinstein-Taybi syndrome 2, 613684 (3), Autosomal dominant Ep300 (MGI:1276116) -chr22 41205191 41231270 22q13.3 22q13.2 611865 L3MBTL2, L3MBT L3MBTL histone methyl-lysine-binding protein 2 L3MBTL2 83746 ENSG00000100395 L3mbtl2 (MGI:2443584) -chr22 41229509 41241770 22q13.2 22q13.2 616236 CHADL Chondroadherin-like CHADL 150356 ENSG00000100399 Chadl (MGI:3036284) -chr22 41244778 41302368 22q13.2 22q13.2 602362 RANGAP1 GTPase-activating protein, RAN, 1 RANGAP1 5905 ENSG00000100401 Rangap1 (MGI:103071) -chr22 41301524 41360146 22q13.2 22q13.2 618206 ZC3H7B, ROXAN1, KIAA1031 Zinc finger CCCH domain-containing protein 7B ZC3H7B 23264 ENSG00000100403 Zc3h7b (MGI:1328310) -chr22 41367454 41399325 22q13 22q13.2 188595 TEF Thyrotroph embryonic factor TEF 7008 ENSG00000167074 Tef (MGI:98663) -chr22 41433491 41448229 22q13.1-q13.31 22q13.2 607396 TOB2, KIAA1663 Transducer of erbb2, 2 TOB2 10766 ENSG00000183864 Tob2 (MGI:1888525) -chr22 41459716 41468691 22q13.2 22q13.2 617846 PHF5A, SF3B7, SF3B14B PHD finger protein 5A PHF5A 84844 ENSG00000100410 Phf5a (MGI:2156864) -chr22 41468755 41528978 22q13.2 22q13.2 100850 ACO2, ICRD, OPA9 Aconitase, mitochondrial ACO2 50 ENSG00000100412 distal to Ph1 break; mutation identified in 1 OPA9 family ?Optic atrophy 9, 616289 (3), Autosomal recessive; Infantile cerebellar-retinal degeneration, 614559 (3), Autosomal recessive Aco2 (MGI:87880) -chr22 41561009 41576665 22q13.2 22q13.2 617689 CSDC2, PIPPIN Cold-shock domain-containing protein C2 CSDC2 27254 ENSG00000172346 Csdc2 (MGI:2146027) -chr22 41576894 41589865 22q13.1 22q13.2 601786 PMM1 Phosphomannomutase 1 PMM1 5372 ENSG00000100417 Pmm1 (MGI:1353418) -chr22 41598027 41621076 22q13.2 22q13.2 614637 DESI1, PPPDE2 Desumoylating isopeptidase 1 DESI1 27351 ENSG00000100418 Desi1 (MGI:106313) -chr22 41621294 41664040 22q11-q13 22q13.2 152690 XRCC6, G22P1, TLAA, Ku70 X-ray repair cross complementing XRCC6 2547 ENSG00000196419 tight linkage to CYP2D Xrcc6 (MGI:95606) -chr22 41673932 41690491 22q13.2 22q13.2 601304 NHP2L1 Non-histone chromosome protein 2, S. cerevisiae, like 1 SNU13 4809 ENSG00000100138 previously assigned to 12q24.3 by FISH Snu13,Gm5616 (MGI:3646416,MGI:893586) -chr22 41699502 41799476 22q13 22q13.2 608797 MEI1, SPATA38, HYDM3 Meiotic double-stranded break formation protein 1 MEI1 150365 ENSG00000167077 Hydatidiform mole, recurrent, 3, 618431 (3), Autosomal recessive Mei1 (MGI:3028590) -chr22 41800678 41832163 22q13 22q13.2 618788 CCDC134 Coiled-coil domain-containing protein 134 CCDC134 79879 ENSG00000100147 Ccdc134 (MGI:1923707) -chr22 41833104 41907307 22q13 22q13.2 600481 SREBF2 Sterol regulatory element binding transcription factor 2 SREBF2 6721 ENSG00000198911 Srebf2 (MGI:107585) -chr22 41900943 41901011 22q13.2 22q13.2 612156 MIR33A, MIRN33A Micro RNA 33A MIR33A 407039 ENSG00000207932 Mir33 (MGI:3619343) -chr22 41906048 41915092 22q13.2 22q13.2 617329 SHISA8 Shisa family, member 8 SHISA8 440829 ENSG00000234965 Shisa8 (MGI:2146080) -chr22 41922031 41926805 22q13.1-q13.31 22q13.2 606269 TNFRSF13C, BAFFR, CVID4 Tumor necrosis factor receptor superfamily, member 13C TNFRSF13C 115650 ENSG00000159958 Immunodeficiency, common variable, 4, 613494 (3), Autosomal recessive Tnfrsf13c (MGI:1919299) -chr22 41927746 41947151 22q13.31 22q13.2 610152 PANE1, C22orf18 Proliferation-associated nuclear element 1 CENPM 79019 ENSG00000100162 Cenpm (MGI:1913820) -chr22 41969442 41998220 22q13.2 22q13.2 608314 SEPT3, SEP3 Septin 3 SEPTIN3 55964 ENSG00000100167 Septin3 (MGI:1345148) -chr22 41995102 42059401 22q13.2 22q13.2 610981 WBP2NL, PAWP WWBP2 N-terminal-like protein WBP2NL 164684 ENSG00000183066 Wbp2nl (MGI:1921966) -chr22 42058333 42070841 22q11 22q13.2 104170 NAGA Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B) NAGA 4668 ENSG00000198951 proximal to Ph1 break Schindler disease, type I, 609241 (3), Autosomal recessive; Kanzaki disease, 609242 (3), Autosomal recessive; Schindler disease, type III, 609241 (3), Autosomal recessive Naga (MGI:1261422) -chr22 42074243 42079437 22q13.2 22q13.2 614240 FAM109B, SES2, IPIP27B Family with sequence similarity 109, member B PHETA2 150368 ENSG00000177096 Pheta2 (MGI:2443609) -chr22 42079699 42084283 22q13.2 22q13.2 615588 SMDT1, EMRE, C22orf32 Single-pass membrane protein with aspartate-rich tail 1 SMDT1 91689 ENSG00000183172 Smdt1 (MGI:1916279) -chr22 42085525 42090771 22q13.1 22q13.2 602138 NDUFA6, MC1DN33 NADH-ubiquinone oxidoreductase subunit A6 NDUFA6 4700 ENSG00000184983 Mitochondrial complex I deficiency, nuclear type 33, 618253 (3), Autosomal recessive Ndufa6 (MGI:1914380) -chr22 42126498 42130809 22q13.1 22q13.2 124030 CYP2D6, CPD6, P450DB1 Cytochrome P450, subfamily IID, polypeptide 6 CYP2D6 1565 ENSG00000100197 {Codeine sensitivity}, 608902 (3), Autosomal recessive; {Debrisoquine sensitivity}, 608902 (3), Autosomal recessive Cyp2d11,Cyp2d22,Cyp2d34,Cyp2d12,Cyp2d10,Cyp2d40,Cyp2d9,Cyp2d26 (MGI:88602,MGI:88603,MGI:1923529,MGI:88604,MGI:1929474,MGI:88606,MGI:2385022,MGI:1919004) -chr22 42160012 42283926 22q13.3 22q13.2 603107 TCF20, SPBP, AR1, DDVIBA Transcription factor 20 TCF20 6942 ENSG00000100207 Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 (3), Autosomal dominant Tcf20 (MGI:108399) -chr22 42380406 42437985 22q13.2 22q13.2 608740 NFAM1, CNAIP NFAT activating protein with ITAM motif 1 NFAM1 150372 ENSG00000235568 Nfam1 (MGI:1921289) -chr22 42500578 42512559 22q13.2 22q13.2 607979 SERHL Serine hydrolase-like, pseudogene SERHL 94009 ENSG00000172250 -chr22 42508343 42519795 22q13.2 22q13.2 619449 RRP7A, MCPH28 Ribosomal RNA processing 7 homolog A RRP7A 27341 ENSG00000189306 mutation identified in 1 MCPH28 family ?Microcephaly 28, primary, autosomal recessive, 619453 (3), Autosomal recessive Rrp7a (MGI:1922028) -chr22 42553849 42574381 22q13.2 22q13.2 619045 SERHL2 Serine hydrolase-like 2 SERHL2 253190 ENSG00000183569 Serhl (MGI:1890404) -chr22 42583720 42614917 22q13.2 22q13.2 611520 POLDIP3, SKAR, PDIP46 Polymerase delta-interacting protein 3 POLDIP3 84271 ENSG00000100227 Poldip3 (MGI:1921076) -chr22 42617839 42649391 22q13.31-qter 22q13.2 613213 CYB5R3, DIA1, B5R Cytochrome b5 reductase 3 CYB5R3 1727 ENSG00000100243 Methemoglobinemia, type I, 250800 (3), Autosomal recessive; Methemoglobinemia, type II, 250800 (3), Autosomal recessive Cyb5r3 (MGI:94893) -chr22 42692114 42721300 22q13.2 22q13.2 607922 A4GALT, P1PK Alpha 1,4-galactosyltransferase A4GALT 53947 ENSG00000128274 [Blood group, P1Pk system, P(2) phenotype], 111400 (3); NOR polyagglutination syndrome, 111400 (3); [Blood group, P1Pk system, p phenotype], 111400 (3) A4galt (MGI:3512453) -chr22 42796501 42857293 22q13.2 22q13.2 612439 ARFGAP3 ADP-ribosylation factor GTPase-activating protein 3 ARFGAP3 26286 ENSG00000242247 Arfgap3 (MGI:1913501) -chr22 42869765 43015148 22q13.2 22q13.2 604960 PACSIN2 Protein kinase C and casein kinase substrate in neurons 2 PACSIN2 11252 ENSG00000100266 Pacsin2 (MGI:1345153) -chr22 43039515 43089417 22q13.1 22q13.2 608955 TTLL1, KIAA0173 Tubulin tyrosine ligase-like 1 TTLL1 25809 ENSG00000100271 Ttll1 (MGI:2443047) -chr22 43110749 43129711 22q13.3 22q13.2 603392 BIK, NBK Bcl2-interacting killer BIK 638 ENSG00000100290 Bik (MGI:1206591) -chr22 43132205 43143397 22q13.31 22q13.2 614479 MCAT Malonyl CoA:ACP acyltransferase, mitochondrial MCAT 27349 ENSG00000100294 Mcat (MGI:2388651) -chr22 43151558 43163241 22q13.31 22q13.2 109610 TSPO, BZRP, PBR, PBS, BPBS Translocator protein, 18kD (benzodiazepine receptor, peripheral type) TSPO 706 ENSG00000100300 Tspo (MGI:88222) -chr22 43166621 43187133 22q13.2 22q13.2 619410 TTLL12 Tubulin tyrosine ligase-like 12 TTLL12 23170 ENSG00000100304 Ttll12 (MGI:3039573) -chr22 43197279 43343371 22q13 22q13.2 611746 SCUBE1 Signal peptide-, CUB domain-, and EGF-like domains-containing protein 1 SCUBE1 80274 ENSG00000159307 Scube1 (MGI:1890616) -chr22 43412013 43507847 22q13.31 22q13.2 602112 MPPED1, C22orf1, 239AB Metallophosphoesterase domain-containing protein 1 MPPED1 758 ENSG00000186732 Mpped1 (MGI:106316) -chr22 43824508 43862512 22q13.31 22q13.31 608359 SULT4A1, BRSTL1 Sulfotransferase family 4A, member 1 SULT4A1 25830 ENSG00000130540 Sult4a1 (MGI:1888971) -chr22 43879677 43892012 22q13.31 22q13.31 611589 PNPLA5, GS2L Patatin-like phospholipase domain-containing 5 PNPLA5 150379 ENSG00000100341 Pnpla5 (MGI:1923022) -chr22 43923804 43947581 22q13 22q13.31 609567 PNPLA3, ADPN Patatin-like phospholipase domain-containing protein 3 PNPLA3 80339 ENSG00000100344 Pnpla3 (MGI:2151796) -chr22 43955441 43996528 22q13.31 22q13.31 612058 SAMM50, SAM50 SAMM50 sorting ans assembly machinery component SAMM50 25813 ENSG00000100347 Samm50 (MGI:1915903) -chr22 43999163 44172938 22q13.31 22q13.31 608121 PARVB Parvin, beta PARVB 29780 ENSG00000188677 Parvb (MGI:2153063) -chr22 44170227 44208468 22q13.31 22q13.31 608122 PARVG Parvin, gamma PARVG 64098 ENSG00000138964 Parvg (MGI:2158329) -chr22 44668750 44737680 22q13.31 22q13.31 609406 PRR5, PP610 Proline-rich protein 5 PRR5 55615 ENSG00000186654 Prr5 (MGI:1924714) -chr22 44752574 44862783 22q13.31 22q13.31 609405 ARHGAP8, BPGAP1 GTPase-activating protein, RHO, 8 ARHGAP8 23779 ENSG00000241484 Arhgap8 (MGI:1920417) -chr22 44881161 45010004 22q13.31 22q13.31 616727 PHF21B, PHF4, BHC80L PHD finger protein 21B PHF21B 112885 ENSG00000056487 Phf21b (MGI:2443812) -chr22 45163924 45188016 22q13.3 22q13.31 604646 NUP50, NPAP60L, NPAP60 Nucleoporin, 50 kD NUP50 10762 ENSG00000093000 Nup50 (MGI:1351502) -chr22 45284948 45295873 22q13.31 22q13.31 611559 UPK3A, UPK3, UPIII Uroplakin 3A UPK3A 7380 ENSG00000100373 Upk3a (MGI:98914) -chr22 45502882 45601134 22q13.3 22q13.31 135820 FBLN1 Fibulin 1 FBLN1 2192 ENSG00000077942 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4), Autosomal dominant Fbln1 (MGI:95487) -chr22 45671833 45845306 22q13 22q13.31 611150 ATXN10, SCA10 Ataxin 10 ATXN10 25814 ENSG00000130638 ATTCTn repeat in intron 9 Spinocerebellar ataxia 10, 603516 (3), Autosomal dominant Atxn10 (MGI:1859293) -chr22 45920361 45977161 22q13 22q13.31 601967 WNT7B Wingless-type MMTV integration site family, member-7B WNT7B 7477 ENSG00000188064 Wnt7b (MGI:98962) -chr22 46085996 46113927 22q13.31 22q13.31 618216 MIRLET7BHG, LINC-PPARA MIRLET7B host gene, noncoding MIRLET7BHG 400931 ENSG00000197182 -chr22 46112748 46112821 22q13.31 22q13.31 612143 MIRLET7A3, LET7A3, MIRNLET7A3 Micro RNA let7a3 MIRLET7A3 406883 ENSG00000283990 Mirlet7c-2 (MGI:3619050) -chr22 46113685 46113767 22q13 22q13.31 611249 MIRLET7B, LET7B, MIRNLET7B Micro RNA Let7B MIRLET7B 406884 ENSG00000284520 Mirlet7b (MGI:2676794) -chr22 46150525 46243755 22q12-q13.1 22q13.31 170998 PPARA, PPAR Peroxisome proliferator-activated receptor-alpha PPARA 5465 ENSG00000186951 {Hyperapobetalipoproteinemia, susceptibility to} (3) Ppara (MGI:104740) -chr22 46255662 46263342 22q13.3 22q13.31 604670 PKDREJ Polycystic kidney disease and sea urchin REJ homolog-like PKDREJ 10343 ENSG00000130943 Pkdrej (MGI:1338786) -chr22 46295142 46333698 22q13.31 22q13.31 607477 GTSE1 G2 and S-phase expressed 1 GTSE1 51512 ENSG00000075218 Gtse1 (MGI:1352755) -chr22 46335713 46357339 22q13 22q13.31 610230 TRMU, MTO2 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase TRMU 55687 ENSG00000100416 {Deafness, mitochondrial, modifier of}, 580000 (3), Mitochondrial; Liver failure, transient infantile, 613070 (3), Autosomal recessive Trmu (MGI:1919276) -chr22 46361173 46537619 22q13.3 22q13.31 604523 CELSR1, LMPHM9 Cadherin EGF LAG seven-pass G-type receptor 1 CELSR1 9620 ENSG00000075275 Lymphatic malformation 9, 619319 (3), Autosomal dominant Celsr1 (MGI:1100883) -chr22 46576016 46682755 22q13.31 22q13.31 613691 GRAMD4, KIAA0767, DIP Gram domain-containing protein 4 GRAMD4 23151 ENSG00000075240 Gramd4 (MGI:2676308) -chr22 46684409 46738251 22q13 22q13.31 610307 CERK, KIAA1646 Ceramide kinase CERK 64781 ENSG00000100422 Cerk (MGI:2386052) -chr22 46762630 47224974 22q13.31 22q13.31 616879 TBC1D22A, C22orf4 TBC1 domain family, member 22A TBC1D22A 25771 ENSG00000054611 Tbc1d22a (MGI:1289265) -chr22 48489552 48751931 22q13.32 22q13.32 617499 FAM19A5, TAFA5 Family with sequence similarity 19, member A5, CC motif chemokine-like TAFA5 25817 ENSG00000219438 Tafa5 (MGI:2146182) -chr22 49100000 50818468 22q13 615538 DUP22q13, C22DUPq13 Chromosome 22q13 duplication syndrome Chromosome 22q13 duplication syndrome, 615538 (4), Isolated cases -chr22 49100000 50818468 22q13 610873 MENAQ1 Menarche, age at, QTL 1 100188822 max lod at UT7136 {Menarche, age at, QTL}, 610873 (2) -chr22 49100000 50818468 22q13 613282 NAFLD1 Fatty liver disease, nonalcoholic, susceptibility to, 1 100380876 associated with rs738409 {Fatty liver disease, nonalcoholic, susceptibility to, 1}, 613282 (2), Multifactorial -chr22 49100000 50818468 22q13 612417 NRCLP4 Narcolepsy 4 100216484 associated with rs5770917 {Narcolepsy 4}, 612417 (2) -chr22 49773277 49827872 22q13 22q13.33 604589 BRL BR140-like gene BRD1 23774 ENSG00000100425 Brd1 (MGI:1924161) -chr22 49853843 49890079 22q13.33 22q13.33 612552 ZBED4, KIAA0637 Zinc finger BED domain-containing protein 4 ZBED4 9889 ENSG00000100426 Zbed4 (MGI:2682302) -chr22 49860162 49918468 22q13.33 22q13.33 607144 ALG12, CDG1G ALG12 alpha-1,6-mannosyltransferase ALG12 79087 ENSG00000182858 Congenital disorder of glycosylation, type Ig, 607143 (3), Autosomal recessive Alg12 (MGI:2385025) -chr22 49918633 49927539 22q13.33 22q13.33 607171 CRELD2 Cysteine-rich protein with EGF-like domains 2 CRELD2 79174 ENSG00000184164 Creld2 (MGI:1923987) -chr22 49960771 49964071 22q13.33 22q13.33 610580 PIM3 Oncogene PIM3 PIM3 415116 ENSG00000198355 Pim3 (MGI:1355297) -chr22 49991810 50013826 22q13 22q13.33 613414 IL17REL Interleukin 17 receptor E-like IL17REL 400935 ENSG00000188263 -chr22 50018574 50058226 22q13.33 22q13.33 619193 TTLL8 Tubulin tyrosine ligase-like 8 TTLL8 164714 ENSG00000138892 Ttll8 (MGI:1922902) -chr22 50059390 50085874 22q13.33 22q13.33 605908 MLC1, LVM, VL MLC1 gene MLC1 23209 ENSG00000100427 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3), Autosomal recessive Mlc1 (MGI:2157910) -chr22 50090005 50161704 22q13.33 22q13.33 605794 MOV10L1 Mov10-like 1 MOV10L1 54456 ENSG00000073146 Mov10l1 (MGI:1891384) -chr22 50170730 50180294 22q13 22q13.33 608421 PANX2, PX2 Pannexin 2 PANX2 56666 ENSG00000073150 Panx2 (MGI:1890615) -chr22 50201010 50217615 22q13.33 22q13.33 607917 SELENOO, SELO Selenoprotein O SELENOO 83642 ENSG00000073169 Selenoo (MGI:1919007) -chr22 50217693 50245027 22q13.33 22q13.33 610053 TUBGCP6, GCP6, KIAA1669, MCCRP1 Tubulin-gamma complex-associated protein 6 TUBGCP6 85378 ENSG00000128159 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3), Autosomal recessive Tubgcp6 (MGI:2146071) -chr22 50252900 50261682 22q13.3 22q13.33 602399 MAPK12, SAPK3, ERK3 Mitogen-activated protein kinase 12 (Stress-activated protein kinase-3) MAPK12 6300 ENSG00000188130 Mapk12 (MGI:1353438) -chr22 50263712 50270379 22q13.33 22q13.33 602898 MAPK11, PRKM11, SAPK2B Mitogen-activated protein kinase 11 MAPK11 5600 ENSG00000185386 Mapk11 (MGI:1338024) -chr22 50274978 50307645 22q13.31-q13.33 22q13.33 604293 PLXNB2, MM1 Plexin B2 PLXNB2 23654 ENSG00000196576 Plxnb2 (MGI:2154239) -chr22 50343326 50445089 22q13.33 22q13.33 610877 SAPS2, PP6R2, KIAA0685 SAPS domain family, member 2 PPP6R2 9701 ENSG00000100239 Ppp6r2 (MGI:1918724) -chr22 50444999 50475034 22q13.33 22q13.33 603560 SBF1, MTMR5, CMT4B3 SET-binding factor 1 (myotubularin-related protein 5) SBF1 6305 ENSG00000100241 Charcot-Marie-Tooth disease, type 4B3, 615284 (3), Autosomal recessive Sbf1 (MGI:1925230) -chr22 50483987 50490647 22q13.33 22q13.33 606774 MIOX, ALDRL6 Myoinositol oxygenase MIOX 55586 ENSG00000100253 Miox (MGI:1891725) -chr22 50508217 50524779 22q13.33 22q13.33 611230 NCAPH2, CAPH2 Non-SMC condensin II complex subunit H2 NCAPH2 29781 ENSG00000025770 Ncaph2 (MGI:1289164) -chr22 50523567 50526441 22q13 22q13.33 604272 SCO2, MC4DN2, MYP6 SCO2 cytochrome c oxidase assembly protein SCO2 9997 ENSG00000284194 Myopia 6, 608908 (3), Autosomal dominant; Mitochondrial complex IV deficiency, nuclear type 2, 604377 (3), Autosomal recessive Sco2 (MGI:3818630) -chr22 50525751 50530084 22q13.32-qter 22q13.33 131222 TYMP, ECGF1, MNGIE, PDECGF, MEDPS1, MTDPS1 Thymidine phosphorylase TYMP 1890 ENSG00000025708 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3), Autosomal recessive Tymp (MGI:1920212) -chr22 50551111 50562918 22q13.33 22q13.33 615775 SYCE3 Synaptonemal complex central element protein 3 SYCE3 644186 ENSG00000217442 Syce3 (MGI:1922709) -chr22 50568860 50578611 22q13 22q13.33 601987 CPT1B Carnitine palmitoyltransferase I, muscle CPT1B 1375 ENSG00000205560 Cpt1b (MGI:1098297) -chr22 50578962 50582848 22q13 22q13.33 612395 CHKB, CHKL, CKEKB, EKB, MDCMC Choline kinase, beta CHKB 1120 ENSG00000100288 Muscular dystrophy, congenital, megaconial type, 602541 (3), Autosomal recessive Chkb (MGI:1328313) -chr22 50600792 50613977 22q13 22q13.33 607755 MAPK8IP2, JIP2, IB2 Mitogen-activated protein kinase 8-interacting protein 2 MAPK8IP2 23542 ENSG00000008735 Mapk8ip2 (MGI:1926555) -chr22 50622753 50628151 22q13.31-qter 22q13.33 607574 ARSA Arylsulfatase A ARSA 410 ENSG00000100299 Metachromatic leukodystrophy, 250100 (3), Autosomal recessive Arsa (MGI:88077) -chr22 50672822 50733211 22q13.3 22q13.33 606230 SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15 SH3 and multiple ankyrin repeat domains 3 SHANK3 85358 ENSG00000251322 Phelan-McDermid syndrome, 606232 (3), Autosomal dominant; {Schizophrenia 15}, 613950 (3), Autosomal dominant Shank3 (MGI:1930016) -chr22 50738203 50745338 22q13.33 22q13.33 102480 ACR Acrosin ACR 49 ENSG00000100312 ?Male infertility due to acrosin deficiency, 102480 (2) Acr (MGI:87884) -chr22 50767499 50783704 22q13.3 22q13.33 605413 RABL2B RAB-like 2B RABL2B 11158 ENSG00000079974 Rabl2 (MGI:1915958) -chrX 0 6100000 Xpter-p22.32 301780 ARSC2 Arylsulfatase C, f form ARSC2 413 probably close to STS = ARSC1, or s form -chrX 0 6100000 Xpter-p22.32 300221 HDPA Hodgkin disease, susceptibility, pseudoautosomal 50829 {Hodgkin disease susceptibility, pseudoautosomal}, 300221 (2) -chrX 0 4400000 Xp22.33 313000 VSPA Visuospatial/perceptual abilities 59332 [Visuospatial/perceptual abilities], 313000 (2), ?X-linked recessive; Turner syndrome-associated neurocognitive phenotype, 313000 (2), ?X-linked recessive -chrX 276355 303355 Xp22.33 Xp22.33 300974 PLCXD1 Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 1 PLCXD1 55344 ENSG00000182378 in pseudoautosomal region Plcxd1 (MGI:2685422) -chrX 303351 318818 Xp22.33 Xp22.33 300124 GTPBP6, PGPL GTP-binding protein 6 GTPBP6 8225 ENSG00000178605 Gtpbp6 (MGI:1306825) -chrX 333932 387326 Xp22.33 Xp22.33 300339 PPP2R3B, PR48 Protein phosphatase 2, regulatory subunit B-double prime, beta PPP2R3B 28227 ENSG00000167393 Ppp2r3d (MGI:1335093) -chrX 624343 659410 Xpter-p22.32 Xp22.33 312865 SHOX, GCFX, SS, PHOG Short stature homeo box SHOX 6473 ENSG00000185960 pseudoautosomal; ?gene causing short stature in Turner syndrome Short stature, idiopathic familial, 300582 (3); Leri-Weill dyschondrosteosis, 127300 (3), Pseudoautosomal dominant; Langer mesomelic dysplasia, 249700 (3), Pseudoautosomal recessive -chrX 1190436 1212761 Xp22.3 Xp22.33 300357 CRLF2, CRL2 Cytokine receptor-like factor 2 CRLF2 64109 ENSG00000205755 pseudoautosomal -chrX 1268813 1325217 Xp22.32 Xp22.33 306250 CSF2RA, SMDP4 Colony-stimulating factor-2 receptor, alpha, low-affinity, granulocyte-macrophage CSF2RA 1438 ENSG00000198223 order in PAR: pter-CSF2RA-IL3RA-ANT3-ASMT-MIC2-cen Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3) -chrX 1336573 1382688 Xp22.3 Xp22.33 308385 IL3RA Interleukin-3 receptor, alpha subunit IL3RA 3563 ENSG00000185291 same 190kb segment as CSF2RA -chrX 1386151 1392112 Xp22.32 Xp22.33 300151 SLC25A6, ANT3 Solute carrier family 25 (mitochondrial carrier), member 6 (adenine nucleotide translocator-3, liver) SLC25A6 293 ENSG00000169100 1st intron ~1.3Mb from Xqter; nonlyonized -chrX 1403138 1453793 Xpter-p22.32 Xp22.33 300162 ASMTLX, ASTML Acetylserotonin methyltransferase-like ASMTL 8623 ENSG00000169093 -chrX 1462575 1537487 Xp22.3 Xp22.33 300525 P2RY8, P2Y8 Pyrimidinergic receptor P2Y, G protein-coupled, 8 P2RY8 286530 ENSG00000182162 -chrX 1591603 1602519 Xp22.32 Xp22.33 312095 AKAP17A, SFRS17A, DXYS155E, XE7 A kinase (PRKA) anchor protein 17A AKAP17A 8227 ENSG00000197976 nonlyonizing -chrX 1595454 1643080 Xpter-p22.32 Xp22.33 300015 ASMT, HIOMT Acetylserotonin methyltransferase ASMT 438 ENSG00000196433 pseudoautosomal -chrX 2219505 2500975 Xp22.33 Xp22.33 301034 DHRSX Dehydrogenase/reductase, X-linked DHRSX 207063 ENSG00000169084 Dhrsx (MGI:2181510) -chrX 2486434 2500975 Xp22.33 Xp22.33 300178 ZBED1, ALTE, KIAA0785, TRAMP Zinc finger BED domain-containing protein 1 ZBED1 9189 ENSG00000214717 -chrX 2691294 2741308 Xpter-p22.32 Xp22.33 313470 CD99, MIC2, MIC2X CD99 antigen (MIC2 (monoclonal antibody 12E7)) CD99 4267 ENSG00000002586 distal to STS -chrX 2751103 2816499 Xp22.33 Xp22.33 300879 XG, PBDX XG glycoprotein XG 7499 ENSG00000124343 nonlyonizing; spans pseudoautosomal boundary -chrX 2828711 2882819 Xp22.3 Xp22.33 300198 GYG2, GN2 Glycogenin 2 GYG2 8908 ENSG00000056998 -chrX 2903971 2929344 Xp22.3 Xp22.33 300002 ARSD Arylsulfatase D ARSD 414 ENSG00000006756 -chrX 2934520 2968244 Xp22.3 Xp22.33 300180 ARSE, CDPX1, CDPXR Arylsulfatase E ARSL 415 ENSG00000157399 CDPX1 in contiguous gene syndrome with STS Chondrodysplasia punctata, X-linked recessive, 302950 (3), X-linked recessive -chrX 3006545 3034110 Xp22.3 Xp22.33 300586 ARSH Arylsulfatase H ARSH 347527 ENSG00000205667 -chrX 3040233 3112726 Xp22.3 Xp22.33 300003 ARSF Arylsulfatase F ARSF 416 ENSG00000062096 -chrX 3308564 3346651 Xp22.33 Xp22.33 300938 MXRA5 Matrix remodeling-associated protein 5 MXRA5 25878 ENSG00000101825 -chrX 3604339 3713648 Xp22.3 Xp22.33 300083 PRKX Protein kinase, X-linked PRKX 5613 ENSG00000183943 Prkx (MGI:1309999) -chrX 4400000 6100000 Xp22.32 314705 XGR, XG XG/MIC2 regulator [XG blood group system, Xg(a-) phenotype, 314700 (3) -chrX 5890041 6228877 Xp22.33 Xp22.32-p22.31 300427 NLGN4, KIAA1260, AUTSX2, ASPGX2 Neuroligin 4 NLGN4X 57502 ENSG00000146938 {Asperger syndrome susceptibility, X-linked 2}, 300497 (3), X-linked; Intellectual developmental disorder, X-linked, 300495 (3), Multifactorial, Isolated cases, X-linked; {Autism susceptibility, X-linked 2}, 300495 (3), Multifactorial, Isolated cases, X-linked Nlgn4l (MGI:3775191) -chrX 6100000 9600000 Xp22.3 300211 EMWX Episodic muscle weakness, X-linked 10118 Episodic muscle weakness, X-linked, 300211 (2) -chrX 6100000 9600000 Xp22.3 300406 FGS3 FG syndrome 3 93985 FG syndrome 3, 300406 (2) -chrX 6100000 9600000 Xp22.3 300778 LECD Corneal dystrophy, Lisch epithelial 100302509 max lod between DXYS233 and DXYS228X Corneal dystrophy, Lisch epithelial, 300778 (2), X-linked dominant -chrX 6100000 9600000 Xp22.3 300428 MRX2 Mental retardation, X-linked, 2 Mental retardation, X-linked 2, 300428 (2), X-linked -chrX 6100000 9600000 Xp22.3 300650 OASD Ocular albinism and sensorineural deafness 4941 ?allelic to OA1 Ocular albinism with sensorineural deafness, 300650 (2), X-linked -chrX 6533617 6535117 Xp22.3 Xp22.31 300533 VCX3A, VCX8R, VCXA Variably charged, X chromosome, 3A VCX3A 51481 ENSG00000169059 -chrX 6768839 7148152 Xp22.32 Xp22.31 306480 HDHD1A, DXF68S1E, GS1 Haloacid dehalogenase-like hydrolase domain-containing 1A PUDP 8226 ENSG00000130021 escapes X-inactivation; 100kb telomeric to STS Pudp (MGI:1914615) -chrX 7147289 7354640 Xp22.32 Xp22.31 300747 STS, ARSC1, ARSC, SSDD, XLI Steroid sulfatase, microsomal (arylsulfatase C, isozyme S) STS 412 ENSG00000101846 nonlyonizing Ichthyosis, X-linked, 308100 (3), X-linked recessive -chrX 7842261 7844142 Xp22.3 Xp22.31 300229 VCX, VCXB1, VCX10R Variably charged, X chromosome VCX 26609 ENSG00000182583 -chrX 7898246 7928586 Xp22.3 Xp22.31 300102 DXS1283E GS2 gene PNPLA4 8228 ENSG00000006757 -chrX 8169943 8171266 Xp22.3 Xp22.31 300532 VCX2, VCX2R, VCXB Variably charged, X chromosome, 2 VCX2 51480 ENSG00000177504 -chrX 8464829 8466509 Xp22.31 Xp22.31 300981 VCS3B, VCXC Variably charged, X chromosome, 3B VCX3B 425054 ENSG00000205642 -chrX 8528873 8732136 Xp22.31 Xp22.31 300836 ANOS1, KAL1, KMS, ADMLX, HH1 Anosmin 1 ANOS1 3730 ENSG00000011201 with ichthyosis in probable microdeletion syndrome Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3), X-linked recessive Wfdc17 (MGI:3649773) -chrX 8790794 8801382 Xp22.33-p22.32 Xp22.31 300477 FAM9A Family with sequence similarity 9, member A FAM9A 171482 ENSG00000183304 pseudogene on Xq28, Yp11.31, 1p36.12, 8p11.1 -chrX 9024231 9034126 Xp22.32 Xp22.31 300478 FAM9B Family with sequence similarity 9, member B FAM9B 171483 ENSG00000177138 Xlr5a,Xlr5b,Xlr4a,Xlr4b,Xlr3a,Xlr5c,Xlr4c,Xlr3b (MGI:1350981,MGI:109506,MGI:3574108,MGI:1350975,MGI:109505,MGI:3574099,MGI:3574098,MGI:3574109) -chrX 9463294 9719739 Xp22.3 Xp22.3-p22.2 300196 TBL1X, TBL1, CHNG8 Transducin-beta-like 1, X-linked TBL1X 6907 ENSG00000101849 Hypothyroidism, congenital, nongoitrous, 8, 301033 (3), X-linked Tbl1x (MGI:1336172) -chrX 9600000 17400000 Xp22.2 302801 CMTX2 Charcot-Marie-Tooth disease, X-linked recessive, 2 1253 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, 302801 (2), X-linked recessive -chrX 9600000 17400000 Xp22.2 305435 HBFQTL3, FCP1, FCPX, FCP Fetal hemoglobin quantitative trait locus 3 2221 Fetal hemoglobin quantitative trait locus 3, 305435 (2), X-linked -chrX 9600000 17400000 Xp22.2 300355 MRX73 Mental retardation, X-linked 73 23694 between DXS8019 and DXS365 Mental retardation, X-linked 73, 300355 (2), X-linked recessive -chrX 9725345 9786259 Xp22.3 Xp22.2 300808 GPR143, OA1, NYS6 G protein-coupled receptor 143 GPR143 4935 ENSG00000101850 linked to XG Ocular albinism, type I, Nettleship-Falls type, 300500 (3), X-linked; Nystagmus 6, congenital, X-linked, 300814 (3), X-linked recessive Gpr143 (MGI:107193) -chrX 9786405 9949442 Xp22.3 Xp22.2 300103 SHROOM2, APXL Shroom family member 2 SHROOM2 357 ENSG00000146950 Shroom2 (MGI:107194) -chrX 10156974 10237659 Xp22.3 Xp22.2 302910 CLCN4, MRX49, MRX15, MRXSRC Chloride channel-4 CLCN4 1183 ENSG00000073464 Raynaud-Claes syndrome, 300114 (3), X-linked dominant Clcn4 (MGI:104571) -chrX 10445309 10833682 Xp22 Xp22.2 300552 MID1, OGS1, BBBG1, FXY, OSX Midline-1 MID1 4281 ENSG00000101871 type II defect on chr.22 Opitz GBBB syndrome, type I, 300000 (3), X-linked recessive Mid1 (MGI:1100537) -chrX 11111331 11123085 Xp22 Xp22.2 300056 HCCS, MCOPS7, LSDMCA1 Holocytochrome c synthase (cytochrome c heme-lyase) HCCS 3052 ENSG00000004961 Linear skin defects with multiple congenital anomalies 1, 309801 (3), X-linked dominant Hccs (MGI:106911) -chrX 11137543 11665919 Xp22.3 Xp22.2 300118 ARHGAP6 Rho GTPase-activating protein-6 ARHGAP6 395 ENSG00000047648 Arhgap6 (MGI:1196332) -chrX 11293412 11304148 Xp22.3-p22.1 Xp22.2 300391 AMELX, AMG, AIH1, AMGX, AI1E Amelogenin AMELX 265 ENSG00000125363 also Y Amelogenesis imperfecta, type 1E, 301200 (3), X-linked dominant Amelx (MGI:88005) -chrX 11758158 11775771 Xp22.3 Xp22.2 300609 MSL3, MSL3L1, MRXSBA MSL complex subunit 3 MSL3 10943 ENSG00000005302 Basilicata-Akhtar syndrome, 301032 (3), X-linked dominant Msl3l2,Msl3 (MGI:1341851,MGI:1920640) -chrX 11822438 12724522 Xp22.2 Xp22.2 300838 FRMPD4, PRESO, KIAA0316, XLID104 FERM and PDZ domains-containing protein 4 FRMPD4 9758 ENSG00000169933 Intellectual developmental disorder, X-linked 104, 300983 (3), X-linked Frmpd4 (MGI:3042378) -chrX 12791411 12824221 Xp22.3-p22.2 Xp22.2 311860 PRPS2 Phosphoribosyl pyrophosphate synthetase-2 PRPS2 5634 ENSG00000101911 between STS and ZFX Prps2 (MGI:97776) -chrX 12867071 12890360 Xp22.3-p22.2 Xp22.2 300365 TLR7, IMD74 Toll-like receptor 7 TLR7 51284 ENSG00000196664 centromeric to TLR8 Immunodeficiency 74, COVID19-related, X-linked, 301051 (3), X-linked recessive Tlr7 (MGI:2176882) -chrX 12906619 12923168 Xp22.3-p22.2 Xp22.2 300366 TLR8 Toll-like receptor 8 TLR8 51311 ENSG00000101916 16kb telomeric to TLR7 Tlr8 (MGI:2176887) -chrX 12975109 12977222 Xq21.3-q22 Xp22.2 300159 TMSB4X, TMSB4, TB4X, PTMB4 Thymosin, beta-4, X chromosome TMSB4X 7114 ENSG00000205542 Tmsb4x (MGI:99510) -chrX 13035616 13044792 Xp22.31 Xp22.2 300479 FAM9C Family with sequence similarity 9, member C FAM9C 171484 ENSG00000187268 Xlr5a,Xlr5b,Xlr4a,Xlr3c,Xlr4b,Xlr3a,Xlr5c,Xlr4c,Xlr3b (MGI:1350981,MGI:109506,MGI:3574108,MGI:1350975,MGI:3047103,MGI:109505,MGI:3574099,MGI:3574098,MGI:3574109) -chrX 13318646 13320052 Xp22.2 Xp22.2 300920 ATXN3L Ataxin 3-like ATXN3L 92552 ENSG00000123594 Atxn3 (MGI:1099442) -chrX 13569600 13633574 Xp22 Xp22.2 300239 EGFL6 Epidermal growth factor-like 6 EGFL6 25975 ENSG00000198759 Egfl6 (MGI:1858599) -chrX 13689127 13710503 Xp22.2 Xp22.2 300284 RAB9 RAS-associated protein RAB9 RAB9A 9367 ENSG00000123595 Rab9 (MGI:1890695) -chrX 13712242 13734632 Xp22.2-p22.1 Xp22.2 300202 TRAPPC2, SEDL, SEDT Trafficking protein particle complex 2 (sedlin) TRAPPC2 6399 ENSG00000196459 Spondyloepiphyseal dysplasia tarda, 313400 (3), X-linked recessive 0610009B22Rik,Trappc2 (MGI:1913300,MGI:1913476) -chrX 13734725 13773977 Xp22.3-p22.2 Xp22.2 300170 OFD1, CXorf5, SGBS2, JBTS10, RP23 OFD1 centriole and centriolar satellite protein OFD1 8481 ENSG00000046651 mutation identified in 1 RP23 family Simpson-Golabi-Behmel syndrome, type 2, 300209 (3), X-linked recessive; ?Retinitis pigmentosa 23, 300424 (3), X-linked recessive; Orofaciodigital syndrome I, 311200 (3), X-linked dominant; Joubert syndrome 10, 300804 (3), X-linked recessive Ofd1 (MGI:1350328) -chrX 13770921 13938712 Xp22.2 Xp22.2 300051 GPM6B, M6B Glycoprotein M6B GPM6B 2824 ENSG00000046653 Gpm6b (MGI:107672) -chrX 14002493 14029917 Xp22.2 Xp22.2 300962 GEMIN8, FAM51A1 GEM nuclear organelle-associated protein 8 GEMIN8 54960 ENSG00000046647 Gemin8 (MGI:2384300) -chrX 14529297 14731811 Xp22.1-p21.2 Xp22.2 305990 GLRA2 Glycine receptor, alpha-2 polypeptide GLRA2 2742 ENSG00000101958 Glra2 (MGI:95748) -chrX 14690862 14873254 Xp22.31 Xp22.2 300515 FANCB, FAAP95, FAAP90, FLJ34064 Fanconi anemia, complementation group B gene FANCB 2187 ENSG00000181544 Fanconi anemia, complementation group B, 300514 (3), X-linked recessive Fancb (MGI:2448558) -chrX 15243986 15270475 Xp22.2 Xp22.2 300890 ASB9 Ankyrin repeat- and SOCS box-containing protein 9 ASB9 140462 ENSG00000102048 Asb9 (MGI:1916549) -chrX 15281696 15315639 Xp22.31 Xp22.2 300626 ASB11 Ankyrin repeat- and SOCS box-containing protein 11 ASB11 140456 ENSG00000165192 Asb11 (MGI:1916104) -chrX 15319450 15335553 Xp22.1 Xp22.2 311770 PIGA, PNH1, MCAHS2 Phosphatidylinositol glycan, class A PIGA 5277 ENSG00000165195 pseudogene on chr.12 Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3); Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3), X-linked recessive Piga (MGI:99461) -chrX 15345595 15384412 Xp22.31 Xp22.2 300091 FIGF, VEGFD c-fos induced growth factor (vascular endothelial growth factor D) VEGFD 2277 ENSG00000165197 Vegfd (MGI:108037) -chrX 15384798 15493332 Xp22.2 Xp22.2 300931 PIR Pirin PIR 8544 ENSG00000087842 Pir (MGI:1916906) -chrX 15500776 15556518 Xp22.2 Xp22.2 300101 BMX BMX non-receptor tyrosine kinase BMX 660 ENSG00000102010 Bmx (MGI:1101778) -chrX 15518196 15607210 Xp22 Xp22.2 300335 ACE2, ACEH Angiotensin I converting enzyme 2 ACE2 59272 ENSG00000130234 Ace2 (MGI:1917258) -chrX 15627317 15675623 Xp22.2 Xp22.2 300631 CLTRN, TMEM27, NX17 Collectrin, amino acid transport regulator CLTRN 57393 ENSG00000147003 Cltrn (MGI:1926234) -chrX 15738269 15788410 Xp22.1 Xp22.2 300230 CA5B Carbonic anhydrase VB, mitochondrial CA5B 11238 ENSG00000169239 Car5b (MGI:1926249) -chrX 15785715 15787588 Xp22.2 Xp22.2 300165 INE2 Inactivation escape 2 INE2 8551 ENSG00000281371 -chrX 15790471 15826806 Xp22.1 Xp22.2 300028 ZRSR2, U2AF1RS2 Zinc finger-, CCCH domain-, and RNA-binding motif-containing serine/arginine-rich protein 2 ZRSR2 8233 ENSG00000169249 Zrsr2,Zrsr1 (MGI:103287,MGI:98885) -chrX 15825805 15854965 Xp22 Xp22.2 300629 AP1S2, MRX59, MRXSF, MRXS21, MRXS5, PGS Adaptor-related protein complex 1, sigma-2 subunit AP1S2 8905 ENSG00000182287 Mental retardation, X-linked syndromic 5, 304340 (3), X-linked recessive Ap1s2 (MGI:1889383) -chrX 16123564 16153517 Xp22.3-p21.2 Xp22.2 305670 GRPR Gastrin-releasing peptide receptor GRPR 2925 ENSG00000126010 Grpr (MGI:95836) -chrX 16167480 16172393 Xp21.3 Xp22.2 300763 MAGEB17 Melanoma antigen, family B, 17 MAGEB17 645864 ENSG00000182798 -chrX 16587998 16712916 Xp22 Xp22.2 300380 CTPS2 Cytidine 5-prime triphosphate synthetase 2 CTPS2 56474 ENSG00000047230 Ctps2 (MGI:1933185) -chrX 16649786 16654673 Xp Xp22.2 302020 CALB3, CABP9K Calbindin 3 (vitamin D-dependent calcium-binding protein) S100G 795 ENSG00000169906 S100g (MGI:104528) -chrX 16786431 16844518 Xp22.1 Xp22.2 300677 TXLNG, CXorf15, FIAT Taxilin, gamma TXLNG 55787 ENSG00000086712 Txlng (MGI:3590652) -chrX 16844340 16870361 Xp22.2 Xp22.2 300825 RBBP7 Retinoblastoma-binding protein 7 RBBP7 5931 ENSG00000102054 Rbbp7 (MGI:1194910) -chrX 16946657 17220723 Xp22.2 Xp22.2 300317 REPS2, POB1 RALBP1-associated EPS domain-containing protein 2 REPS2 9185 ENSG00000169891 Reps2 (MGI:2663511) -chrX 17375199 17735993 Xp22.13 Xp-p 300457 NHS, CXN, CTRCT40 NHS actin remodeling regulator NHS 4810 ENSG00000188158 Cataract 40, X-linked, 302200 (3), X-linked; Nance-Horan syndrome, 302350 (3), X-linked dominant Nhs (MGI:2684894) -chrX 17737456 17754984 Xp22.2-p22.1 Xp22.13 300227 SCML1 SCM polycomb group protein-like 1 SCML1 6322 ENSG00000047634 -chrX 17800048 17861345 Xp22 Xp22.13 300217 RAI2 Retinoic acid-induced 2 RAI2 10742 ENSG00000131831 Rai2 (MGI:1344378) -chrX 18239312 18355088 Xp22 Xp22.13 300208 SCML2 SCM polycomb group protein-like 2 SCML2 10389 ENSG00000102098 Scml2 (MGI:1340042) -chrX 18425607 18653628 Xp22 Xp22.13 300203 CDKL5, STK9, ISSX, DEE2 Cyclin-dependent kinase-like 5 (serine/threonine protein kinase 9) CDKL5 6792 ENSG00000008086 Developmental and epileptic encephalopathy 2, 300672 (3), X-linked dominant Cdkl5 (MGI:1278336) -chrX 18639687 18672107 Xp22.2-p22.1 Xp22.13 300839 RS1, XLRS1 Retinoschisin RS1 6247 ENSG00000102104 25cM from XG Retinoschisis, 312700 (3), X-linked recessive Rs1 (MGI:1336189) -chrX 18675066 18827920 Xp22.2-p22.1 Xp22.13 300109 PPEF1 Protein phosphatase, EF hand calcium-binding domain 1 PPEF1 5475 ENSG00000086717 Ppef1 (MGI:1097157) -chrX 18892297 18984113 Xp22.2-p22.1 Xp22.13 300798 PHKA2, PHK, XLG, PYKL, GSD9A Phosphorylase kinase, liver, alpha-2 subunit PHKA2 5256 ENSG00000044446 Glycogen storage disease, type IXa2, 306000 (3), X-linked recessive; Glycogen storage disease, type IXa1, 306000 (3), X-linked recessive Phka2 (MGI:97577) -chrX 18989306 19122955 Xp21.3 Xp22.13 300572 ADGRG2, GPR64, HE6, CBAVDX Adhesion G protein-coupled receptor G2 ADGRG2 10149 ENSG00000173698 Congenital bilateral absence of vas deferens, X-linked, 300985 (3), X-linked Adgrg2 (MGI:2446854) -chrX 19343905 19361717 Xp22.2-p22.1 Xp22.12 300502 PDHA1, PHE1A, PDHAD Pyruvate dehydrogenase, E1-alpha polypeptide-1 PDHA1 5160 ENSG00000131828 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3), X-linked dominant Pdha1 (MGI:97532) -chrX 19360058 19515507 Xp22.12 Xp22.12 300820 MAP3K15, ASK3 Mitogen-activated protein kinase kinase kinase 15 MAP3K15 389840 ENSG00000180815 Map3k15 (MGI:2448588) -chrX 19533976 19887599 Xp22.1-p21.3 Xp22.12 300374 SH3KBP1, CIN85, IMD61, AGMX2 SH3-domain kinase-binding protein 1 SH3KBP1 30011 ENSG00000147010 mutation identified in 1 IMD61 family ?Immunodeficiency 61, 300310 (3), X-linked recessive Sh3kbp1 (MGI:1889583) -chrX 20124524 20141837 Chr.X Xp22.12 300186 EIF1A, EIF4C, EIF1AX Eukaryotic translation initiation factor 1A EIF1AX 1964 ENSG00000173674 Eif1ax (MGI:1913485) -chrX 20149910 20267513 Xp22.2-p22.1 Xp22.12 300075 RPS6KA3, RSK2, XLID19 Ribosomal protein S6 kinase A3 RPS6KA3 6197 ENSG00000177189 Intellectual developmental disorder, X-linked 19, 300844 (3), X-linked dominant; Coffin-Lowry syndrome, 303600 (3), X-linked dominant Rps6ka3 (MGI:104557) -chrX 21374417 21654688 Xp22.12 Xp22.12 300724 CNKSR2, CNK2, KIAA0902, MRXSHG connector enhancer of KSR 2 CNKSR2 22866 ENSG00000149970 Intellectual developmental disorder, X-linked, syndromic, Houge type, 301008 (3), X-linked Cnksr2 (MGI:2661175) -chrX 21705977 21758115 Xp22.1 Xp22.12 300226 SMPX, DFNX4 Small muscle protein, X-linked SMPX 23676 ENSG00000091482 Deafness, X-linked 4, 300066 (3), X-linked dominant Smpx (MGI:1913356) -chrX 21839616 21885422 Xp22.12-p22.11 Xp22.12 300294 MBTPS2, S2P, IFAP, KFSDX, OLMSX, OI19 Membrane-bound transcription factor protease, site 2 MBTPS2 51360 ENSG00000012174 mutation identified in 1 OLMSX family Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3), X-linked recessive; Osteogenesis imperfecta, type XIX, 301014 (3), X-linked recessive; IFAP syndrome with or without BRESHECK syndrome, 308205 (3), X-linked recessive; ?Olmsted syndrome, X-linked, 300918 (3), X-linked recessive Mbtps2 (MGI:2444506) -chrX 21855986 21858739 Xp22.2-p22.1 Xp22.12 300570 YY2, ZNF631 Transcription factor YY2 YY2 404281 ENSG00000230797 Yy2 (MGI:3837947) -chrX 21900000 24900000 Xp22 304050 AIC Aicardi syndrome 192 ?in p22.31 with FDH as contiguous gene syndrome Aicardi syndrome, 304050 (2), X-linked dominant -chrX 21900000 24900000 Xp22 300870 ANIB5 Aneurysm, intracranial berry, 5 Aneurysm, intracranial berry, 5, 300870 (2) -chrX 21900000 24900000 Xp22 300273 MNG2 Multinodular goiter-2 59081 Goiter, multinodular, 2, 300273 (2), X-linked dominant -chrX 21940708 21994836 Xp22.1 Xp22.11 300105 SMS, SRS, MRXSSR Spermine synthase SMS 6611 ENSG00000102172 Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, 309583 (3), X-linked recessive Sms-ps,Sms (MGI:109490,MGI:3705601) -chrX 22032324 22251309 Xp22.2-p22.1 Xp22.11 300550 PHEX, HYP, HPDR1, LXHR Phosphate regulating endopeptidase homolog, X-linked PHEX 5251 ENSG00000102174 Hypophosphatemic rickets, X-linked dominant, 307800 (3), X-linked dominant Phex (MGI:107489) -chrX 23334368 23404373 Xp22.11 Xp22.11 300828 PTCHD1, AUTSX4 Patched domain-containing protein 1 PTCHD1 139411 ENSG00000165186 {Autism, susceptibility to, X-linked 4}, 300830 (3), X-linked recessive Ptchd1 (MGI:2685233) -chrX 23667492 23686396 Xp22.11 Xp22.11 300927 PRDX4, AOE372 Peroxiredoxin 4 PRDX4 10549 ENSG00000123131 Prdx4 (MGI:1859815) -chrX 23701054 23743275 Xp22.11 Xp22.11 300862 ACOT9, MTACT48 Acyl-CoA thioesterase 9 ACOT9 23597 ENSG00000123130 Acot9,Acot10 (MGI:1928939,MGI:1928940) -chrX 23783172 23786209 Xp22.1 Xp22.11 313020 SAT1, SSAT Spermidine/spermine N1-acetyltransferase 1 SAT1 6303 ENSG00000130066 Sat1 (MGI:98233) -chrX 23833347 23907937 Xp22.1 Xp22.11 300753 APOO, MYO25, FAM121B Apolipoprotein O APOO 79135 ENSG00000184831 Apoo (MGI:1915566) -chrX 23983719 24027185 Xp22.1 Xp22.11 300980 KLHL15, KIAA1677, XLID103 Kelch-like 15 KLHL15 80311 ENSG00000174010 Intellectual developmental disorder, X-linked 103, 300982 (3), X-linked recessive Klhl15 (MGI:1923400) -chrX 24054955 24078809 Xp22.2-p22.1 Xp22.11 300161 EIF2S3, EIF2G, MEHMO, MRXSBRK Eukaryotic translation initiation factor 2, subunit 3 EIF2S3 1968 ENSG00000130741 MEHMO syndrome, 300148 (3), X-linked recessive Eif2s3x,Eif2s3y (MGI:1349430,MGI:1349431) -chrX 24148981 24216254 Xp22.2-p21.3 Xp22.11 314980 ZFX Zinc finger protein, X-linked ZFX 7543 ENSG00000005889 nonlyonizing Zfx (MGI:99211) -chrX 24465285 24550465 Xp22.11 Xp22.11 300906 PDK3, CMTX6 Pyruvate dehydrogenase kinase, isoenzyme 3 PDK3 5165 ENSG00000067992 1 family identified with mutation ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3), X-linked dominant Pdk3 (MGI:2384308) -chrX 24558086 24672886 Xp22.11 Xp22.11 300948 PCYT1B Phosphate cytidylyltransferase 1, choline, beta isoform PCYT1B 9468 ENSG00000102230 Pcyt1b (MGI:2147987) -chrX 24693876 24996985 Xp22.3-p21.1 Xp22.1-p21.3 312040 POLA1, VEODS Polymerase, DNA, alpha-1 POLA1 5422 ENSG00000101868 Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive; Van Esch-O'Driscoll syndrome, 301030 (3), X-linked recessive Pola1 (MGI:99660) -chrX 24900000 29300000 Xp21.3 300488 MENOQ1 Menopause, natural, age at, QTL 1 494029 {Menopause, natural, age at, QTL1}, 300488 (2), X-linked dominant -chrX 24900000 31500000 Xp21.3-p21.2 312612 RP6 Retinitis pigmentosa-6, X-linked recessive 6104 ?Retinitis pigmentosa, X-linked recessive, 6, 312612 (2), X-linked -chrX 25003693 25015964 Xp22.13 Xp21.3 300382 ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32 Aristaless-related homeobox, X-linked ARX 170302 ENSG00000004848 Proud syndrome, 300004 (3), X-linked; Hydranencephaly with abnormal genitalia, 300215 (3), X-linked; Partington syndrome, 309510 (3), X-linked recessive; Developmental and epileptic encephalopathy 1, 308350 (3), X-linked recessive; Lissencephaly, X-linked 2, 300215 (3), X-linked; Intellectual developmental disorder, X-linked 29, 300419 (3), X-linked recessive Arx (MGI:1097716) -chrX 26192439 26195645 Xp22 Xp21.3 300467 MAGEB6 Melanoma antigen, family B, 6 MAGEB6 158809 ENSG00000176746 Mageb6b1,Mageb3 (MGI:105109,MGI:3643982) -chrX 26216168 26218269 Xp22 Xp21.3 300466 MAGEB5 Melanoma antigen, family B, 5 MAGEB5 347541 ENSG00000188408 Mageb5,Mageb5b (MGI:2148169,MGI:3712084) -chrX 27807989 27823013 Xp21.3 Xp21.3 300761 MAGEB10 Melanoma antigen, family B, 10 MAGEB10 139422 ENSG00000177689 -chrX 28587445 29956717 Xp22.1-p21.3 Xp21.3-p21.2 300206 IL1RAPL1, IL1R8, MRX21, MRX34 Il-1 receptor accessory protein-like 1 IL1RAPL1 11141 ENSG00000169306 Intellectual developmental disorder, X-linked 21, 300143 (3), X-linked recessive Il1rapl1 (MGI:2687319) -chrX 29300000 31500000 Xp21.2 300030 DFNX3, DFN4 Deafness, X-linked 3 1680 ?same as DMD Deafness, X-linked 3, 300030 (2), X-linked -chrX 29300000 85400000 Xp21.2-q21.1 309050 XS, LUXS Lutheran suppressor, X-linked 7523 -chrX 30215562 30220088 Xp21.3 Xp21.2 300098 MAGEB2, DAM6 Melanoma antigen, family B, 2 MAGEB2 4113 ENSG00000099399 Mageb4 (MGI:2148568) -chrX 30230656 30237494 Xp21.3 Xp21.2 300152 MAGEB3 Melanoma antigen, family B, 3 MAGEB3 4114 ENSG00000198798 -chrX 30241999 30244186 Xp21.3 Xp21.2 300153 MAGEB4 Melanoma antigen, family B, 4 MAGEB4 4115 ENSG00000120289 Mageb4 (MGI:2148568) -chrX 30243730 30252039 Xp21.3 Xp21.2 300097 MAGEB1, MAGEL1, DAM10 Melanoma antigen, family B, 1 MAGEB1 4112 ENSG00000214107 Mageb4 (MGI:2148568) -chrX 30304205 30309389 Xp21.3-p21.2 Xp21.2 300473 NR0B1, DAX1, AHC, AHX, SRXY2 Nuclear receptor subfamily 0, group B, member 1 NR0B1 190 ENSG00000169297 distal to GK Adrenal hypoplasia, congenital, 300200 (3), X-linked recessive; 46XY sex reversal 2, dosage-sensitive, 300018 (3), X-linked Nr0b1 (MGI:1352460) -chrX 30558808 30577765 Xp21.2 Xp21.2 301049 TASL, CXorf21 TLR adaptor interacting with endolysosomal SLC15A4 TASL 80231 ENSG00000120280 Tasl (MGI:1918648) -chrX 30653347 30731461 Xp21.3-p21.2 Xp21.2 300474 GK Glycerol kinase GK 2710 ENSG00000198814 2Mb distal to DMD; pseudogene on 4q32 Glycerol kinase deficiency, 307030 (3), X-linked recessive Gk,Gykl1 (MGI:891990,MGI:106594) -chrX 30827441 30889390 Xp21.2 Xp21.2 300480 TAB3 Tak1 (MAP3K7) binding protein 3 TAB3 257397 ENSG00000157625 Tab3 (MGI:1913974) -chrX 31071232 31072040 Xp21.2 Xp21.2 300308 FTHL17 Ferritin heavy polypeptide-like 17 FTHL17 53940 ENSG00000132446 Fthl17a,Fthl17b,Fthl17e,Fthl17f (MGI:1933180,MGI:1919246,MGI:3642941,MGI:3642940) -chrX 31119218 33339459 Xp21.2 Xp21.2-p21.1 300377 DMD, BMD, CMD3B Dystrophin DMD 1756 ENSG00000198947 dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 Becker muscular dystrophy, 300376 (3), X-linked recessive; Cardiomyopathy, dilated, 3B, 302045 (3), X-linked; Duchenne muscular dystrophy, 310200 (3), X-linked recessive Dmd (MGI:94909) -chrX 31500000 37800000 Xp21 300679 DELXp21, CXDELp21 Chromosome Xp21 deletion syndrome contiguous gene deletion syndrome Chromosome Xp21 deletion syndrome, 300679 (4) -chrX 31500000 50100000 Xp21.1-p11.23 300858 MRXS17 Mental retardation, X-linked, syndromic 17 100739996 between rs2748314 and rs5906782 Mental retardation, X-linked, syndromic 17, 300858 (2), X-linked recessive -chrX 34627074 34657284 Xp11.4 Xp21.1 300698 TMEM47, BCMP1 Transmembrane protein 47 TMEM47 83604 ENSG00000147027 Tmem47 (MGI:2177570) -chrX 35798341 35803771 Xp21.3 Xp21.1 300762 MAGEB16 Melanoma antigen, family B, 16 MAGEB16 139604 ENSG00000189023 Mageb16 (MGI:1919217) -chrX 35919733 36385316 Xp21.1 Xp21.1 301057 CFAP47, CXorf22, SPGFX3 Cilia- and flagella-associated protein 47 CFAP47 286464 ENSG00000165164 Spermatogenic failure, X-linked, 3, 301059 (3), X-linked recessive Cfap47 (MGI:3781475) -chrX 37349363 37457290 Xp21.1 Xp21.1 300935 PRRG1, PRGP1 Proline-rich gamma-carboxyglutamic acid protein 1 PRRG1 5638 ENSG00000130962 Prrg1 (MGI:1917364) -chrX 37685685 37732129 Xp21.2-p21.1 Xp21.1 314850 XK, MCLDS Kell blood group precursor XK 7504 ENSG00000047597 ~500kb distal to CGD McLeod syndrome with or without chronic granulomatous disease, 300842 (3), X-linked Xk (MGI:103569) -chrX 37780058 37813460 Xp21.1 Xp21.1-p11.4 300481 CYBB, CGDX, AMCBX2, IMD34 Cytochrome b-245, beta polypeptide CYBB 1536 ENSG00000165168 proximal to DMD Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3), X-linked recessive; Chronic granulomatous disease, X-linked, 306400 (3), X-linked recessive Cybb (MGI:88574) -chrX 37800000 58100000 Xp11.4-p11.2 300638 GAGE8 G antigen 8 GAGE8 100101629 -chrX 37800000 42500000 Xp11.4 300589 NYS5 Nystagmus 5, congenital, X-linked 780901 max lod at DXS993 Nystagmus 5, congenital, X-linked, 300589 (2), X-linked dominant -chrX 37800000 58100000 Xp11.4-p11.21 311050 OPA2 Optic atrophy, X-linked 4977 Optic atrophy 2, X-linked, 311050 (2), X-linked -chrX 37838835 37847570 Xp21 Xp11.4 300302 TCTE1L T complex-associated testis-expressed 1-like DYNLT3 6990 ENSG00000165169 Dynlt3 (MGI:1914367) -chrX 38149338 38220880 Xp21.1 Xp11.4 300187 SRPX, ETX1 Sushi-repeat-containing protein, X chromosome SRPX 8406 ENSG00000101955 probably between OTC and CGD Srpx (MGI:1858306) -chrX 38269162 38327508 Xp11.4 Xp11.4 312610 RPGR, RP3, CRD, RP15, COD1, CORDX1 Retinitis pigmentosa GTPase regulator RPGR 6103 ENSG00000156313 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3); Cone-rod dystrophy, X-linked, 1, 304020 (3), X-linked; Retinitis pigmentosa 3, 300029 (3); Macular degeneration, X-linked atrophic, 300834 (3), X-linked recessive Rpgr (MGI:1344037) -chrX 38352527 38421445 Xp21.1 Xp11.4 300461 OTC Ornithine transcarbamylase OTC 5009 ENSG00000036473 proximal to DMD, CGD Ornithine transcarbamylase deficiency, 311250 (3), X-linked Otc (MGI:97448) -chrX 38561541 38688917 Xq11 Xp11.4 300096 TSPAN7, TM4SF2, MXS1, A15, XLID58 Tetraspanin 7 TSPAN7 7102 ENSG00000156298 Intellectual developmental disorder, X-linked 58, 300210 (3), X-linked recessive Tspan7 (MGI:1298407) -chrX 38801458 38806531 Xp11.4 Xp11.4 300961 MID1IP1, MIG12 MID1-interacting protein 1 MID1IP1 58526 ENSG00000165175 Mid1ip1 (MGI:1915291) -chrX 40051245 40177389 Xp11.4 Xp11.4 300485 BCOR, KIAA1575, MCOPS2, MAA2, ANOP2 BCL6 corepressor BCOR 54880 ENSG00000183337 Microphthalmia, syndromic 2, 300166 (3), X-linked dominant Bcor (MGI:1918708) -chrX 40580969 40606847 Xp11.4 Xp11.4 300556 ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS, CDG2R ATPase, H+ transporting, lysosomal, accessory protein 2 ATP6AP2 10159 ENSG00000182220 mutation identified in 1 XPDS family Intellectual developmental disorder, X-linked, syndromic, Hedera type, 300423 (3), X-linked recessive; ?Parkinsonism with spasticity, X-linked, 300911 (3), X-linked recessive; Congenital disorder of glycosylation, type IIr, 301045 (3), X-linked recessive Atp6ap2 (MGI:1917745) -chrX 40648304 40736121 Xp11.4-p11.2 Xp11.4 300182 MED14, CRSP2, CXorf4, TRAP170, EXLM1 Mediator complex subunit 14 MED14 9282 ENSG00000180182 Med14 (MGI:1349442) -chrX 41085419 41236578 Xp11.4 Xp11.4 300072 USP9X, DFFRX, XLID99, MRXS99F Ubiquitin-specific protease-9, X chromosome (Drosophila fat facets related, X-linked) USP9X 8239 ENSG00000124486 Intellectual developmental disorder, X-linked 99, 300919 (3), X-linked recessive; Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, 300968 (3), X-linked dominant Usp9x (MGI:894681) -chrX 41333307 41364471 Xp11.3-p11.23 Xp11.4 300160 DDX3X, DDX3, DBX, MRX102, MRXSSB DEAD-box helicase 3, X-linked DDX3X 1654 ENSG00000215301 Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, 300958 (3), X-linked recessive, X-linked dominant Ddx3x,D1Pas1 (MGI:91842,MGI:103064) -chrX 41447342 41475651 Xp11.4 Xp11.4 300278 NYX, CSNB1A, NBM1 Nyctalopin NYX 60506 ENSG00000188937 Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3), X-linked recessive Nyx (MGI:2448607) -chrX 41514933 41923553 Xp11.4 Xp11.4 300172 CASK, MICPCH, FGS4, CMG, MRXSNA Calcium/calmodulin-dependent serine protein kinase CASK 8573 ENSG00000147044 Mental retardation, with or without nystagmus, 300422 (3); Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, 300749 (3), X-linked dominant; FG syndrome 4, 300422 (3) Cask (MGI:1309489) -chrX 41686396 41697274 Xp11.4 Xp11.4 300241 GPR34 G protein-coupled receptor 34 GPR34 2857 ENSG00000171659 Gpr34 (MGI:1346334) -chrX 41724180 41730129 Xp11.4 Xp11.4 300748 GPR82 G protein-coupled receptor 82 GPR82 27197 ENSG00000171657 Gpr82 (MGI:2441734) -chrX 42500000 68500000 Xp11.3-q12 300652 AGSPX Angioma serptiginosum, X-linked 100188767 between DXS8026 and DXS106 Angio serpiginosum, 300652 (2), X-linked dominant -chrX 42500000 47600000 Xp11.3 300578 DELXp11.3, CXDELp11.3 Chromosome Xp11.3 deletion syndrome (X-linked mental retardation with retinitis pigmentosa) Chromosome Xp11.3 deletion syndrome, 300578 (4), X-linked recessive -chrX 42500000 76800000 Xp11.3-q13.3 300062 MRX14 Mental retardation, X-linked-14 4378 Mental retardation, X-linked 14, 300062 (2), X-linked -chrX 42500000 58100000 Xp11.3-p11.21 300498 MRX45 Mental retardation, X-linked 45 Mental retardation,X-linked 45, 300498 (2), X-linked -chrX 42500000 109400000 Xp11.3-q22.3 300505 MRX84 Mental retardation, X-linked 84 378882 29 other MRX loci in same region Mental retardation, X-linked 84, 300505 (2), X-linked recessive -chrX 42500000 47600000 Xp11.3 300848 MRX89 Mental retardation, X-linked 89 t(X;7)(p11.3;q11.21) Mental retardation, X-linked 89, 300848 (2), X-linked dominant -chrX 42500000 47600000 Xp11.3 300851 MRX92 Mental retardation, X-linked 92 102775565 previously associated with ZNF674 Mental retardation, X-linked 92, 300851 (2), X-linked recessive -chrX 42500000 109400000 Xp11.3-q22 300218 MRXS7 Mental retardation, X-linked, syndromic 7 4429 Mental retardation, X-linked syndromic 7, 300218 (2) -chrX 42777365 42778162 Xp11.3 Xp11.3 301017 PPP1R2C Protein phosphatase 1, regulatory subunit 2C PPP1R2C 80316 ENSG00000102055 -chrX 43655005 43746816 Xp11.23 Xp11.3 309850 MAOA, BRNRS Monoamine oxidase A MAOA 4128 ENSG00000189221 NDP, MAOA, MAOB closely linked {Antisocial behavior}, 300615 (3), X-linked recessive; Brunner syndrome, 300615 (3), X-linked recessive Maoa (MGI:96915) -chrX 43766609 43882449 Xp11.23 Xp11.3 309860 MAOB Monoamine oxidase B MAOB 4129 ENSG00000069535 Maob (MGI:96916) -chrX 43948775 43973389 Xp11.4 Xp11.3 300658 NDP, ND, EVR2 Norrin NDP 4693 ENSG00000124479 Exudative vitreoretinopathy 2, X-linked, 305390 (3), X-linked recessive, X-linked dominant; Norrie disease, 310600 (3), X-linked recessive Ndp (MGI:102570) -chrX 44146253 44343671 Xp11.3 Xp11.3 300817 EFHC2 EF-hand domain (C-terminal)-containing protein 2 EFHC2 80258 ENSG00000183690 Efhc2 (MGI:1921655) -chrX 44523638 44542858 Xp11.3 Xp11.3 300871 FUNDC1 FUN14 domain-containing protein 1 FUNDC1 139341 ENSG00000069509 Fundc1 (MGI:1919268) -chrX 44844020 44844887 Xp11.3 Xp11.3 300678 DUSP21, LMWDSP21 Dual-specificity phosphatase 21 DUSP21 63904 ENSG00000189037 Dusp21 (MGI:1920797) -chrX 44873181 45112778 Xp11.2 Xp11.3 300128 KDM6A, UTX, KABUK2 Lysine demethylase 6A KDM6A 7403 ENSG00000147050 UTY also in mouse and man; escapes inactivation Kabuki syndrome 2, 300867 (3), X-linked dominant Kdm6a (MGI:1095419) -chrX 45148372 45200875 Xp11.3 Xp11.3 300959 DIPK2B, CXorf36, DIA1R Divergent protein kinase domain 2B DIPK2B 79742 ENSG00000147113 Dipk2b (MGI:1923155) -chrX 45746156 45746265 Xp11.3 Xp11.3 300568 MIR221, MIRN221 Micro RNA 221 MIR221 407006 ENSG00000207870 near MIRN222 Mir221 (MGI:3619066) -chrX 45747014 45747123 Xp11.3 Xp11.3 300569 MIR222, MIRN222 Micro RNA 222 MIR222 407007 ENSG00000207725 near MIRN221 Mir222 (MGI:3619118) -chrX 46447296 46474638 Xp11.3 Xp11.3 300585 ZNF673, FLJ20344 Zinc finger protein 673 KRBOX4 55634 ENSG00000147121 -chrX 46497724 46545465 Xp11 Xp11.3 300573 ZNF674 Zinc finger protein 674 ZNF674 641339 ENSG00000251192 -chrX 46573764 46598495 Xp11.3 Xp11.3 300375 CHST7, C6ST2 Carbohydrate sulfotransferase 7 CHST7 56548 ENSG00000147119 Chst7 (MGI:1891767) -chrX 46599250 46759162 Xp11.3 Xp11.3 300368 SLC9A7, NHE7, MRX108 Solute carrier family 9 (sodium/hydrogen exchanger), member 7 SLC9A7 84679 ENSG00000065923 Intellectual developmental disorder, X-linked 108, 301024 (3), X-linked recessive Slc9a7 (MGI:2444530) -chrX 46837042 46882357 Xp11.23 Xp11.3 300757 RP2 Retinitis pigmentosa-2, X-linked recessive RP2 6102 ENSG00000102218 Retinitis pigmentosa 2, 312600 (3), X-linked Rp2 (MGI:1277953) -chrX 46912300 47061241 Xp11.23 Xp11.3 300618 PHF16, JADE3, KIAA0215 PHD finger protein 16 JADE3 9767 ENSG00000102221 Jade3 (MGI:2148019) -chrX 47078413 47093312 Xp11.2-q11.2 Xp11.3 300212 RGN, SMP30 Regucalcin RGN 9104 ENSG00000130988 Rgn (MGI:108024) -chrX 47142215 47145490 Xp11.3 Xp11.3 300403 NDUFB11, LSDMCA3, MC1DN30 NADH-ubiquinone oxidoreductase subunit B11 NDUFB11 54539 ENSG00000147123 mutation identified in 1 MC1DN30 patient Linear skin defects with multiple congenital anomalies 3, 300952 (3), X-linked dominant; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 (3), X-linked Ndufb11,Ndufb11b (MGI:1913596,MGI:1349919) -chrX 47145195 47186812 Xp11.23 Xp11.3 300080 RBM10, DXS8237E, KIAA0122, TARPS RNA-binding motif protein 10 RBM10 8241 ENSG00000182872 TARP syndrome, 311900 (3), X-linked recessive Rbm10 (MGI:2384310) -chrX 47190846 47215127 Xp11.23 Xp11.3 314370 UBA1, UBE1, GXP1, A1ST, SMAX2, AMCX1, VEXAS Ubiquitin-like modifier-activating enzyme 1 UBA1 7317 ENSG00000130985 escapes inactivation Spinal muscular atrophy, X-linked 2, infantile, 301830 (3), X-linked recessive; VEXAS syndrome, somatic, 301054 (3) Uba1 (MGI:98890) -chrX 47204847 47205860 Xp11.23 Xp11.3 300164 INE1 Inactivation escape 1 INE1 8552 ENSG00000224975 -chrX 47217880 47229996 Xp11.3-p11.23 Xp11.3 311550 CDK16, PCTK1, PCTAIRE1 Cyclin-dependent kinase 16 CDK16 5127 ENSG00000102225 Cdk16 (MGI:97516) -chrX 47233008 47248327 Xp21.2-p11.2 Xp11.3 300050 USP11, UHX1 Ubiquitin-specific protease-11 (ubiquitin carboxyl-terminal hydrolase) USP11 8237 ENSG00000102226 Usp11 (MGI:2384312) -chrX 47370577 47414497 Xp11.2 Xp11.3 300024 ZNF157 Zinc finger protein-157 (HZF22) ZNF157 7712 ENSG00000147117 -chrX 47444690 47485933 Xp22.1-cen Xp11.3 314995 ZNF41 Zinc finger protein-41 ZNF41 7592 ENSG00000147124 -chrX 47561204 47571907 Xp11.4-p11.2 Xp11.3 311010 ARAF1, RAFA1, PKS2 Oncogene ARAF1 ARAF 369 ENSG00000078061 Araf (MGI:88065) -chrX 47571900 47619856 Xp11.4-p11.2 Xp-p 313440 SYN1, EPILX, MRX50 Synapsin I SYN1 6853 ENSG00000008056 Intellectual developmental disorder, X-linked 50, 300115 (3), X-linked; Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3), X-linked recessive, X-linked dominant Syn1 (MGI:98460) -chrX 47582407 47586788 Xp11.3-p11.23 Xp11.3 305370 TIMP1, TIMP, EPA Erythroid-potentiating activity (tissue inhibitor of metalloproteinases) TIMP1 7076 ENSG00000102265 in intron of SYN1 Timp1 (MGI:98752) -chrX 47600000 54800000 Xp11.23-p11.22 300801 DUPXp11.23p11.22, CXDUPp11.23p11.22 Chromosome Xp11.23-p11.22 duplication syndrome Chromosome Xp11.23-p11.22 duplication syndrome, 300801 (4), X-linked dominant -chrX 47600000 50100000 Xp11.23 300726 GAGE2B G antigen 2B GAGE2B 645037 -chrX 47600000 50100000 Xp11.23 300595 GAGE2C, GAGE2 G antigen 2C GAGE2C 2574 -chrX 47600000 50100000 Xp11.23 300735 GAGE2D G antigen 2D GAGE2D 729408 -chrX 47600000 50100000 Xp11.23 300736 GAGE2E G antigen 2E GAGE2E 26749 -chrX 47600000 50100000 Xp11.23 300596 GAGE3 G antigen 3 -chrX 47600000 50100000 Xp11.23 300597 GAGE4 G antigen 4 GAGE4 2576 -chrX 47600000 50100000 Xp11.23 300598 GAGE5 G antigen 5 GAGE5 2577 -chrX 47600000 50100000 Xp11.23 300599 GAGE6 G antigen 6 GAGE6 2578 -chrX 47600000 50100000 Xp11.23 300601 GAGE7 G antigen 7 GAGE7 2579 -chrX 47600000 50100000 Xp11.23 300637 GAGE7B G antigen 7B GAGE12I 26748 -chrX 47623281 47630304 Xp11.4-p11.23 Xp11.23 300383 PFC, PFD Properdin P factor, complement CFP 5199 ENSG00000126759 Properdin deficiency, X-linked, 312060 (3), X-linked recessive Cfp (MGI:97545) -chrX 47635519 47650603 Xp11.2 Xp11.23 311040 ELK1 ELK1, member of ETS oncogene family ELK1 2002 ENSG00000126767 distal to OATL1 Elk1 (MGI:101833) -chrX 47651795 47659179 Xp11.23 Xp11.23 300234 UXT Ubiquitously expressed transcript UXT 8409 ENSG00000126756 Uxt (MGI:1277988) -chrX 47836901 47925626 Xp22.1-p11 Xp11.23 314998 ZNF81 Zinc finger protein-81 (HFZ20) ZNF81 347344 ENSG00000197779 -chrX 47974850 48003988 Xp11.3 Xp11.23 314993 ZNF21 Zinc finger protein-12 ZNF182 7569 ENSG00000147118 Zfp182 (MGI:2442220) -chrX 48004335 48009732 Xp11.23 Xp11.23 300593 SPACA5, LOC389852 Sperm acrosome associated 5 SPACA5 389852 ENSG00000171489 Spaca5 (MGI:2685564) -chrX 48057515 48071639 Xp11.23 Xp11.23 300819 ZNF630 Zinc finger protein 630 ZNF630 57232 ENSG00000221994 -chrX 48107981 48120685 Xp11.23 Xp11.23 300541 SSX6 Synovial sarcoma, X breakpoint 6 SSX6P 280657 -chrX 48177981 48196797 Xp11.23 Xp11.23 300327 SSX5 Synovial sarcoma, X breakpoint 5 SSX5 6758 ENSG00000165583 Ssxb1,Ssx9,Ssxb10,Ssxb9,Ssxb8,Gm14459,Ssxb6,Ssxb5,Ssxb3,Gm6592,Ssxb2 (MGI:2446778,MGI:2446777,MGI:2446779,MGI:3650385,MGI:3647394,MGI:2446772,MGI:2446771,MGI:2446774,MGI:2446773,MGI:1915235,MGI:2446775) -chrX 48255391 48267443 Xp11.23 Xp11.23 312820 SSX1, SSRC Synovial sarcoma, X breakpoint 1 SSX1 6756 ENSG00000126752 fused with SYT in synovial sarcoma ?Sarcoma, synovial, 300813 (3) Ssxb1,Ssx9,Ssxb10,Ssxb9,Ssxb8,Gm14459,Ssxb6,Ssxb5,Ssxb3,Gm6592,Ssxb2 (MGI:2446778,MGI:2446777,MGI:2446779,MGI:3650385,MGI:3647394,MGI:2446772,MGI:2446771,MGI:2446774,MGI:2446773,MGI:1915235,MGI:2446775) -chrX 48301549 48306178 Xp11.23 Xp11.23 300544 SSX9 Sarcoma, synovial, X breakpoint 9 SSX9P 280660 ENSG00000204648 -chrX 48346426 48356705 Xp11.23 Xp11.23 300325 SSX3 Synovial sarcoma, X breakpoint 3 SSX3 10214 ENSG00000165584 Ssxb1,Ssx9,Ssxb10,Ssxb9,Ssxb8,Gm14459,Ssxb6,Ssxb5,Ssxb3,Gm6592,Ssxb2 (MGI:2446778,MGI:2446777,MGI:2446779,MGI:3650385,MGI:3647394,MGI:2446772,MGI:2446771,MGI:2446774,MGI:2446773,MGI:1915235,MGI:2446775) -chrX 48383538 48393346 Xp11.23 Xp11.23 300326 SSX4 Synovial sarcoma, X breakpoint 4 SSX4 6759 ENSG00000268009 -chrX 48458543 48470259 Xp11.23 Xp11.23 300649 SLC38A5, SN2 Solute carrier family 38 (amino acid transporter), member 5 SLC38A5 92745 ENSG00000017483 Slc38a5 (MGI:2148066) -chrX 48476020 48486363 Xp11.23 Xp11.23 300499 FTSJ1, JM23, SPB1, MRX44, MRX9, XLID9 FTSJ RNA 2-prime-O-methyltransferase 1 FTSJ1 24140 ENSG00000068438 Intellectual developmental disorder, X-linked 9, 309549 (3), X-linked recessive Ftsj1 (MGI:1859648) -chrX 48508991 48520813 Xp11.23 Xp11.23 300651 PORCN, PORC, DHOF, FODH Porcupine O-acyltransferase PORCN 64840 ENSG00000102312 Focal dermal hypoplasia, 305600 (3), X-linked dominant Porcn (MGI:1890212) -chrX 48521807 48528715 Xp11.23-p11.22 Xp11.23 300205 EBP, CDPX2, CPXD, CPX, MEND Emopamil-binding protein EBP 10682 ENSG00000147155 MEND syndrome, 300960 (3), X-linked recessive; Chondrodysplasia punctata, X-linked dominant, 302960 (3), X-linked dominant Ebp (MGI:107822) -chrX 48539713 48562608 Xp11.3-p11.23 Xp11.23 311240 TBC1D25, OATL1 TBC1 domain family, member 25 TBC1D25 4943 ENSG00000068354 Tbc1d25 (MGI:2444862) -chrX 48574483 48581161 Xp11.23 Xp11.23 300027 RBM3 RNA binding motif protein 3 RBM3 5935 ENSG00000102317 Rbm3 (MGI:1099460) -chrX 48590052 48608868 Xp11.23 Xp11.23 300512 WDR13 WD repeat-containing protein 13 WDR13 64743 ENSG00000101940 Wdr13 (MGI:1914661) -chrX 48683752 48691426 Xp11.23-p11.22 Xp11.23 300392 WAS, IMD2, THC1, SCNX Wiskott-Aldrich syndrome gene WAS 7454 ENSG00000015285 t(18;X)(q11.2;p11.2); distal to TIMP Wiskott-Aldrich syndrome, 301000 (3), X-linked recessive; Neutropenia, severe congenital, X-linked, 300299 (3), X-linked recessive; Thrombocytopenia, X-linked, intermittent, 313900 (3), X-linked recessive; Thrombocytopenia, X-linked, 313900 (3), X-linked recessive Was (MGI:105059) -chrX 48695553 48709015 Xp11.23 Xp11.23 300254 SUV39H1 Suppressor of variegation 3-9, Drosophila, homolog of, 1 SUV39H1 6839 ENSG00000101945 Suv39h1 (MGI:1099440) -chrX 48786589 48794310 Xp11.23 Xp11.23 305371 GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP GATA-binding protein-1 (globin transcription factor-1) GATA1 2623 ENSG00000102145 Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3), X-linked recessive; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3), X-linked recessive; Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3), X-linked recessive Gata1 (MGI:95661) -chrX 48801397 48824981 Xp11.23 Xp11.23 300272 HDAC6, CPBHM Histone deacetylase 6 HDAC6 10013 ENSG00000094631 mutation identified in 1 CPBHM family ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3), X-linked dominant Hdac6 (MGI:1333752) -chrX 48826512 48829868 Xp11.2 Xp11.23 300437 HRAS2, HRASP v-Ha-ras harvey rat sarcoma viral oncogene homolog 2 ERAS 3266 ENSG00000187682 Eras (MGI:2665023) -chrX 48831095 48835609 Xp11.3 Xp11.23 300399 PCSK1N, PROSAAS Proprotein convertase, subtilisin/kexin-type, 1, inhibitor of PCSK1N 27344 ENSG00000102109 Pcsk1n (MGI:1353431) -chrX 48893446 48898142 Xp11.2 Xp11.23 300249 TIMM17B, TIM17B Translocase of inner mitochondrial membrane 17B TIMM17B 10245 ENSG00000126768 Timm17b (MGI:1343176) -chrX 48897861 48903142 Xp11.23 Xp11.23 300463 PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8 Polyglutamine-binding protein 1 PQBP1 10084 ENSG00000102103 Renpenning syndrome, 309500 (3), X-linked recessive Pqbp1 (MGI:1859638) -chrX 48903182 48911957 Xp11.23-p11.22 Xp11.23 314375 SLC35A2, UGALT, UGTL, UGT2, CDGX, CDG2M Solute carrier family 35 (UDP-galactose transporter), member 2 SLC35A2 7355 ENSG00000102100 Congenital disorder of glycosylation, type IIm, 300896 (3), Somatic mosaicism, X-linked dominant Slc35a2 (MGI:1345297) -chrX 48913181 48919023 Chr.X Xp11.23 300295 PIM2 Oncogene PIM2 PIM2 11040 ENSG00000102096 Pim2 (MGI:97587) -chrX 48922023 48960782 Xp11.23 Xp11.23 300713 OTUD5, DUBA, MCAND OTU domain-containing protein 5 OTUD5 55593 ENSG00000068308 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, 301056 (3), X-linked recessive Otud5 (MGI:1859615) -chrX 48960982 48972102 Xp11.23 Xp11.23 300281 KCND1 Potassium voltage-gated channel, SHAL-related subfamily, member 1 KCND1 3750 ENSG00000102057 Kcnd1 (MGI:96671) -chrX 48973722 49002263 Xp11.23 Xp11.23 300408 GRIPAP1, GRASP1, KIAA1167 GRIP1-associated protein 1 GRIPAP1 56850 ENSG00000068400 Gripap1 (MGI:1859616) -chrX 49028725 49043356 Xp11.22 Xp11.23 314310 TFE3, RCCX1 Transcription factor for IgH enhancer TFE3 7030 ENSG00000068323 fuses with PRCC in RCCP Renal cell carcinoma, papillary, 1, 300854 (3) Tfe3 (MGI:98511) -chrX 49053571 49069857 Xp11.23 Xp11.23 300947 CCDC120 Coiled-coil domain-containing protein 120 CCDC120 90060 ENSG00000147144 Ccdc120 (MGI:1859619) -chrX 49071160 49074001 Xp11.23 Xp11.23 300840 PRAF2, JM4 PRA1 domain family, member 2 PRAF2 11230 ENSG00000243279 Praf2 (MGI:1859607) -chrX 49074441 49101177 Xp11.23 Xp11.23 300526 WDR45, WIPI4, NBIA5 WD repeat-containing protein 45 WDR45 11152 ENSG00000196998 ?pseudogene on 4q31.3 Neurodegeneration with brain iron accumulation 5, 300894 (3), X-linked dominant Wdr45 (MGI:1859606) -chrX 49113395 49124546 Xp11.23 Xp11.23 301003 GPKOW, GPATCH5 G-patch domain and KO@ motifs GPKOW 27238 ENSG00000068394 Gpkow (MGI:1859610) -chrX 49171897 49175234 Xp11.23-p11.22 Xp11.23 300112 PLP2 Proteolipid protein 2 PLP2 5355 ENSG00000102007 Plp2 (MGI:1298382) -chrX 49174801 49186372 Xp11.23 Xp11.23 300111 PRICKLE3, LMO6, LOAM Prickle, Drosophila, homolog of, 3 PRICKLE3 4007 ENSG00000012211 {Leber hereditary optic neuropathy, modifier of}, 308905 (3), X-linked dominant Prickle3 (MGI:1859635) -chrX 49187814 49200192 Xp11.23-p11.22 Xp11.23 313475 SYP, XLID96 Synaptophysin SYP 6855 ENSG00000102003 Intellectual developmental disorder, X-linked 96, 300802 (3), X-linked recessive Syp (MGI:98467) -chrX 49205062 49233403 Xp11.23 Xp11.23 300110 CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2 Calcium channel, voltage-dependent, alpha-1F subunit CACNA1F 778 ENSG00000102001 Cone-rod dystrophy, X-linked, 3, 300476 (3), X-linked recessive; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3), X-linked; Aland Island eye disease, 300600 (3), X-linked Cacna1f (MGI:1859639) -chrX 49235469 49250525 Xp11.23 Xp11.23 300859 CCDC22, RTSC2 Coiled-coil domain-containing protein 22 CCDC22 28952 ENSG00000101997 Ritscher-Schinzel syndrome 2, 300963 (3), X-linked recessive Ccdc22 (MGI:1859608) -chrX 49250435 49264931 Xp11.23-q13.3 Xp11.23 300292 FOXP3, IPEX, AIID, XPID, PIDX Forkhead box P3 (scurfin) FOXP3 50943 ENSG00000049768 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3), X-linked recessive Foxp3 (MGI:1891436) -chrX 49303645 49319843 Xp11.23 Xp11.23 300737 GAGE10 G antigen 10 GAGE10 102724473 ENSG00000215274 -chrX 49322036 49329383 Xp11.23 Xp11.23 300733 GAGE12J G antigen 12J GAGE12J 729396 ENSG00000224659 -chrX 49331581 49338948 Xp11.23 Xp11.23 300734 GAGE13 G antigen 13 GAGE13 645051 ENSG00000274274 -chrX 49532176 49539537 Xp11.23 Xp11.23 300727 GAGE12C G antigen 12C GAGE12C 729422 ENSG00000237671 -chrX 49541732 49549093 Xp11.23 Xp11.23 300728 GAGE12D G antigen 12D GAGE12D 100132399 ENSG00000227488 -chrX 49551288 49558644 Xp11.23 Xp11.23 300729 GAGE12E G antigen 12E GAGE12E 729431 ENSG00000216649 -chrX 49560841 49568204 Xp11.23 Xp11.23 300730 GAGE12F G antigen 12F GAGE12F 100008586 ENSG00000236362 -chrX 49570396 49577756 Xp11.23 Xp11.23 300731 GAGE12G G antigen 12G GAGE12G 645073 ENSG00000215269 -chrX 49579948 49587300 Xp11.23 Xp11.23 300732 GAGE12H G antigen 12H GAGE12H 729442 ENSG00000224902 -chrX 49589495 49596823 Xp11.23 Xp11.23 300720 GAGE2A G antigen 2A GAGE2A 729447 ENSG00000189064 -chrX 49598991 49608537 Xp11.23 Xp11.23 300594 GAGE1 G antigen 1 GAGE1 2543 ENSG00000205777 -chrX 49687446 49696018 Xp11.23 Xp11.23 300288 GAGEB1, PAGE1 P antigen family, member 1 PAGE1 8712 ENSG00000068985 -chrX 49829259 49834263 Xp11.23 Xp11.23 300287 PAGE4, GAGEC1 P antigen family, member 4 PAGE4 9506 ENSG00000101951 -chrX 49879483 49882557 Xp11.2 Xp11.23 300975 USP27X, USP22L, XLID105 Ubiquitin-specific protease 27, X-linked USP27X 389856 ENSG00000273820 Intellectual developmental disorder, X-linked 105, 300984 (3), X-linked recessive Usp27x (MGI:1859645) -chrX 49922595 50099230 Xp11.22 Xp11.23 300008 CLCN5, CLCK2, NPHL2, DENT1, NPHL1 Chloride channel-5 CLCN5 1184 ENSG00000171365 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3), X-linked recessive; Hypophosphatemic rickets, 300554 (3), X-linked recessive; Dent disease 1, 300009 (3), X-linked recessive; Nephrolithiasis, type I, 310468 (3), X-linked recessive Clcn5 (MGI:99486) -chrX 50003147 50003237 Xp11.23 Xp11.23 301023 MIR532 Micro RNA 532 MIR532 693124 ENSG00000207758 Mir532 (MGI:3629950) -chrX 50014597 50014682 Xp11.23 Xp11.23 300893 MIR502 Micro RNA 502 MIR502 574504 ENSG00000272080 -chrX 50100000 54800000 Xp11.22 300705 DUPXp11.22, MRX17, MRX31 Xp11.22 microduplication syndrome minimal duplicated region 228 kb overlapping HUWE1 and HSD17B10 Xp11.22 microduplication syndrome, 300705 (4) -chrX 50100000 54800000 Xp11.22 300704 HPCX2 Prostate cancer, hereditary, X-linked 2 100188769 associated with rs5945572 {Prostate cancer, hereditary, X-linked 2}, 300704 (2) -chrX 50100000 54800000 Xp11.22 300856 HYSP4 Hypospadias 4, X-linked, susceptibility to 100689214 associated with rs1934179 and rs7063116 {Hypospadias 4, X-linked, susceptibility to}, 300856 (2) -chrX 50190776 50201006 Xp11.2 Xp11.22 300185 AKAP4, AKAP82, HI, FSC1 A-kinase anchor protein 4, 82kD AKAP4 8852 ENSG00000147081 Akap4 (MGI:102794) -chrX 50202712 50351913 Xp11.22 Xp11.22 300456 CCNB3 Cyclin B3 CCNB3 85417 ENSG00000147082 Ccnb3 (MGI:2183443) -chrX 50365408 50470850 Xp11.22 Xp11.22 300837 DGKK Diacylglycerol kinase, kappa, 142kD DGKK 139189 ENSG00000274588 Dgkk (MGI:3580254) -chrX 50575533 50814193 Xp11.2 Xp11.22 300579 SHROOM4, KIAA1202, SDSX, MRXSSDS Shroom family member 4 SHROOM4 57477 ENSG00000158352 Intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type, 300434 (3), X-linked Shroom4 (MGI:2685570) -chrX 50910734 50916640 Xp11.2 Xp11.22 300247 BMP15, GDF9B, ODG2, POF4 Bone morphogenetic protein 15 BMP15 9210 ENSG00000130385 Premature ovarian failure 4, 300510 (3), X-linked; Ovarian dysgenesis 2, 300510 (3), X-linked Bmp15 (MGI:1316745) -chrX 51332230 51337524 Xp11.23 Xp11.22 300527 NUDT10, DIPP3A, APS2 Nucleoside diphosphate-linked moiety X motif 10 NUDT10 170685 ENSG00000122824 Nudt11,Nudt10 (MGI:1930957,MGI:2147931) -chrX 51406947 51408842 Xp11.22 Xp11.22 301036 EZHIP, CATACOMB, CXorf67 EZH inhibitory protein EZHIP 340602 ENSG00000187690 Ezhip (MGI:2147968) -chrX 51490010 51496591 Xp11.23 Xp11.22 300528 NUDT11, DIPP3B, APS1 Nucleoside diphosphate-linked moiety X motif 11 NUDT11 55190 ENSG00000196368 Nudt11,Nudt10 (MGI:1930957,MGI:2147931) -chrX 51743441 51746231 Xp11.23-p11.21 Xp11.22 300418 GSPT2, GST2, ERF3B G1- to S-phase transition 2 GSPT2 23708 ENSG00000189369 Gspt2 (MGI:1316727) -chrX 51802997 51902353 Xp11.23 Xp11.22 300224 MAGED1 Melanoma antigen, family D, 1 MAGED1 9500 ENSG00000179222 Maged1 (MGI:1930187) -chrX 52061826 52069271 Xp11 Xp11.22 300765 MAGED4B Melanoma antigen, family D, 4B MAGED4B 81557 ENSG00000187243 -chrX 52184887 52192267 Xp11 Xp11.22 300702 MAGED4, MAGEE1, KIAA1859 Melanoma antigen, family D, 4 MAGED4 728239 ENSG00000154545 -chrX 52368995 52375682 Xp11.22 Xp11.22 300416 XAGE2, GAGED3 X antigen family, member 2 XAGE2 9502 ENSG00000155622 -chrX 52495807 52500814 Xp11.22 Xp11.22 300742 XAGE1A, XAGE1B X antigen family, member 1A XAGE1A 653220 ENSG00000204379 -chrX 52512073 52517067 Xp11.22 Xp11.22 300289 XAGE1B, XAGE1C, XAGE1D, XAGE1E X antigen family, member 1B XAGE1B 653067 ENSG00000204382 -chrX 52622934 52633947 Xp11.22 Xp11.22 300543 SSX8 Sarcoma, synovial, X breakpoint 8 SSX8P 280659 ENSG00000157965 -chrX 52644060 52654899 Xp11.22 Xp11.22 300542 SSX7 Sarcoma, synovial, X breakpoint 7 SSX7 280658 ENSG00000187754 Ssxb1,Ssx9,Ssxb10,Ssxb9,Ssxb8,Gm14459,Ssxb6,Ssxb5,Ssxb3,Gm6592,Ssxb2 (MGI:2446778,MGI:2446777,MGI:2446779,MGI:3650385,MGI:3647394,MGI:2446772,MGI:2446771,MGI:2446774,MGI:2446773,MGI:1915235,MGI:2446775) -chrX 52696895 52707226 Xp11.22 Xp11.22 300192 SSX2 Sarcoma, synovial, X breakpoint 2 SSX2 6757 ENSG00000241476 ?Sarcoma, synovial, 300813 (3) -chrX 52796143 52797426 Xp11 Xp11.22 300668 SPANXN5 SPANX family, member N5 SPANXN5 494197 ENSG00000204363 -chrX 52862527 52868139 Xp11.22 Xp11.22 300740 XAGE3, PLAC6 X antigen family, member 3 XAGE3 170626 ENSG00000171402 -chrX 53048788 53080614 Xp11.22 Xp11.22 300253 GPR173, SREB3 G protein-coupled receptor 173 GPR173 54328 ENSG00000184194 Gpr173 (MGI:1918021) -chrX 53082366 53088539 Xp11.2 Xp11.22 300564 TSPYL2, CDA1, DENTT, CINAP TSPY-like 2 TSPYL2 64061 ENSG00000184205 Tspyl2 (MGI:106244) -chrX 53094156 53148007 Xp11.22 Xp11.22 301019 KANTR, LINC01155 KDM5C adjacent transcript, noncoding KANTR 102723508 Kantr (MGI:1920247) -chrX 53176276 53225206 Xp11.22-p11.21 Xp11.22 314690 KDM5C, JARID1C, SMCX, DXS1272E, XE169, MRXSCJ Lysine demethylase 5C KDM5C 8242 ENSG00000126012 escapes inactivation Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, 300534 (3), X-linked recessive Kdm5c (MGI:99781) -chrX 53225783 53321355 Xp11.22 Xp11.22 300522 IQSEC2, KIAA0522, MRX1, MRX78, XLID1 IQ motif- and Sec7 domain-containing protein 2 IQSEC2 23096 ENSG00000124313 Intellectual developmental disorder, X-linked 1, 309530 (3), X-linked dominant Iqsec2 (MGI:3528396) -chrX 53374148 53422727 Xp11.22-p11.21 Xp11.22 300040 SMC1A, SMC1L1, SMC1, DXS423E, KIAA0178, CDLS2, DEE85 Segregation of mitotic chromosomes 1 (SMC1, yeast, homolog of; DXS423E; SB1.8) SMC1A 8243 ENSG00000072501 escapes lyonization Cornelia de Lange syndrome 2, 300590 (3), X-linked dominant; Developmental and epileptic encephalopathy 85, with or without midline brain defects, 301044 (3), X-linked dominant Smc1a (MGI:1344345) -chrX 53431257 53434375 Xp11.2 Xp11.22 300256 HSD17B10, HADH2, ERAB, MRXS10, HSD10MD 17-beta-hydroxysteroid dehydrogenase X HSD17B10 3028 ENSG00000072506 HSD10 mitochondrial disease, 300438 (3), X-linked dominant Hsd17b10 (MGI:1333871) -chrX 53532095 53686722 Xp11.2 Xp11.22 300697 HUWE1, UREB1, KIAA0312, LASU1, MRXST HECT, UBA, and WWE domains-containing protein 1 HUWE1 10075 ENSG00000086758 Intellectual developmental disorder, X-linked, Turner type, 309590 (3), X-linked Huwe1 (MGI:1926884) -chrX 53556222 53556340 Xp11.22 Xp11.22 300810 MIR98, MIRN98 Micro RNA 98 MIR98 407054 ENSG00000271886 Mir98 (MGI:3619441) -chrX 53557191 53557273 Xp11.22 Xp11.22 300721 MIRLET7F2, LET7F2, MIRNLET7F2 Micro RNA Let7f2 MIRLET7F2 406889 ENSG00000208012 Mirlet7f-2 (MGI:2676799) -chrX 53936679 54048934 Xp11.2 Xp11.22 300560 PHF8, ZNF422, KIAA1111, MRXSSD PHD finger protein 8 PHF8 23133 ENSG00000172943 Intellectual developmental disorder, X-linked, syndromic, Siderius type, 300263 (3), X-linked recessive Phf8-ps,Phf8 (MGI:1921292,MGI:2444341) -chrX 54068323 54183283 Xp11.2 Xp11.22 300741 FAM120C, CXorf17 Family with sequence similarity 120, member C FAM120C 54954 ENSG00000184083 Fam120c (MGI:2387687) -chrX 54192822 54358694 Xp11.2 Xp11.22 300358 WNK3, PRKWNK3, KIAA1566 WNK lysine deficient protein kinase 3 WNK3 65267 ENSG00000196632 Wnk3 (MGI:2652875) -chrX 54440403 54448031 Xp11.22 Xp11.22 300945 TSR2, WGG1, DBA14 TSR2, 20S rRNA accumulation, S. cerevisiae, homolog of TSR2 90121 ENSG00000158526 mutation identified in 1 DBA14 family ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3), X-linked recessive Tsr2 (MGI:1916749) -chrX 54445453 54496233 Xp11.21 Xp11.22 300546 FGD1, FGDY, AAS, MRXS16 FYVE, RhoGEF, and PH domain-containing protein 1 FGD1 2245 ENSG00000102302 Mental retardation, X-linked syndromic 16, 305400 (3), X-linked recessive; Aarskog-Scott syndrome, 305400 (3), X-linked recessive Fgd1 (MGI:104566) -chrX 54530218 54567288 Xp11.22 Xp11.22 300873 GNL3L Guanine nucleotide binding protein-like 3-like protein GNL3L 54552 ENSG00000130119 Gnl3l (MGI:2448557) -chrX 54800000 68500000 Xp11.2-q12 300433 MRX81 Mental retardation, X-linked 81 266678 between DXS1039 and DXS1216 Mental retardation, X-linked 81, 300433 (2), X-linked recessive -chrX 54807744 54816014 Xp11.2 Xp11.21 300470 MAGED2, MAGED, BARTS5 Melanoma antigen, family D, 2 MAGED2 10916 ENSG00000102316 Bartter syndrome, type 5, antenatal, transient, 300971 (3), X-linked recessive Maged2 (MGI:1933391) -chrX 54814369 54814499 Xp11.21 Xp11.21 300662 SNORA11 Small nucleolar RNA, H/ACA box, 11 SNORA11 677799 ENSG00000221716 in intron 1 of MAGED2 -chrX 54920795 54931435 Xp11.22-p11.21 Xp11.21 300132 TRO Trophinin TRO 7216 ENSG00000067445 Tro (MGI:1928994) -chrX 54932960 55000051 Xp11.21 Xp11.21 311790 PFKFB1, PFRX Fructose-2,6-bisphosphatase PFKFB1 5207 ENSG00000158571 ?Xq27-q25; ?Xcen-q13 Pfkfb1 (MGI:107816) -chrX 55000362 55009056 Xp11.21 Xp11.21 300773 APEX2, APE2, XTH2, APEXL2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 APEX2 27301 ENSG00000169188 Apex2 (MGI:1924872) -chrX 55009054 55030976 Xp11.21 Xp11.21 301300 ALAS2, ANH1, ASB, XLEPP, XLSA, SIDBA1 Aminolevulinate, delta-, synthase-2 ALAS2 212 ENSG00000158578 Anemia, sideroblastic, 1, 300751 (3), X-linked recessive; Protoporphyria, erythropoietic, X-linked, 300752 (3), X-linked Alas2 (MGI:87990) -chrX 55089017 55092841 Xp11.21 Xp11.21 300738 PAGE2, GAGEC2 P antigen family, member 2 PAGE2 203569 ENSG00000234068 -chrX 55220345 55224107 Xp11.21 Xp11.21 301009 PAGE5, CT16, GAGEE1 P antigen family, member 5 PAGE5 90737 ENSG00000158639 -chrX 55257600 55264915 Xp11.21 Xp11.21 300739 PAGE3, GAGEC1 P antigen family, member 3 PAGE3 139793 ENSG00000204279 -chrX 55452126 55453565 Xp11.21 Xp11.21 300548 MAGEH1, MAGEH Melanoma antigen, family H, 1 MAGEH1 28986 ENSG00000187601 Mageh1 (MGI:1922875) -chrX 55623399 55626191 Xp11.21 Xp11.21 300949 FOXR2, FOXN6 Forkhead box R2 FOXR2 139628 ENSG00000189299 Foxr2 (MGI:3511682) -chrX 55717746 55760208 Xp11.21 Xp11.21 300725 RRAGB, RAGB Ras-related GTP-binding protein B RRAGB 10325 ENSG00000083750 Rragb (MGI:3038613) -chrX 55908122 56291530 Chr.X Xp11.21 300286 KLF8, ZNF741, BKLF3 Kruppel-like factor 8 KLF8 11279 ENSG00000102349 Klf8 (MGI:2442430) -chrX 56563626 56567867 Xp11.23-p11.1 Xp11.21 300264 UBQLN2, PLIC2, CHAP1, ALS15 Ubiquilin 2 UBQLN2 29978 ENSG00000188021 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3), X-linked dominant Ubqln2 (MGI:1860283) -chrX 56729241 56819178 Xp11.1 Xp11.21 300992 NBDY, LINC01420, NOBODY Negative regulator of P-body association NBDY 550643 ENSG00000204272 Nbdy (MGI:1917373) -chrX 57112141 57121904 Xp11.21 Xp11.21 300517 SPIN2 Spindlin family, member 2 SPIN2B 474343 ENSG00000186787 Spin2d,Spin2c,Gm5926 (MGI:1922101,MGI:3647272,MGI:3605548) -chrX 57121860 57489195 Xp11 Xp11.21 300654 FAAH2 Fatty acid amide hydrolase 2 FAAH2 158584 ENSG00000165591 -chrX 57133042 57138687 Xp11.21 Xp11.21 300621 DSF34 DXF34 gene SPIN2A 54466 ENSG00000147059 Spin2d,Spin2c,Gm5926 (MGI:1922101,MGI:3647272,MGI:3605548) -chrX 57592010 57597476 Xp11.21 Xp11.21 300236 ZXDB Zinc finger-encoding gene, X-linked, duplicated, B ZXDB 158586 ENSG00000198455 Zxdb (MGI:3694898) -chrX 57905429 57910457 Xp11.21 Xp11.21 300235 ZXDA Zinc finger-encoding gene, X-linked, duplicated, A ZXDA 7789 ENSG00000198205 Zxdb (MGI:3694898) -chrX 58100000 61000000 Xp11 300351 GRDX, GD3 Graves disease, susceptibility to, X-linked 117189 {Graves disease, susceptibility to, X-linked}, 300351 (2) -chrX 58100000 61000000 Xp11 300136 IDDMX Diabetes mellitus, insulin-dependent, X-linked, susceptibility to 8245 only with DR3 {Diabetes mellitus, insulin-dependent, X-linked}, 300136 (2) -chrX 58100000 99100000 Xp11-q21 300047 MRX20 Mental retardation, X-linked-20 4384 Mental retardation, X-linked 20, 300047 (2), X-linked -chrX 58100000 61000000 Xp11 309545 MRXS12 Mental retardation, X-linked, syndromic 12 8246 ?Mental retardation, X-linked, syndromic 12, 309545 (2), X-linked -chrX 58100000 99100000 Xp11-q21 309610 PRS, MRXS2 Prieto syndrome (mental retardation, X-linked, syndromic 2, with dysmorphism and cerebral atrophy) 5640 Prieto syndrome, 309610 (2), X-linked recessive -chrX 61000000 156040895 Xq 300082 CGF1 Cognitive function-1, social 1083 imprinted locus [Social cognition], 300082 (2), X-linked -chrX 61000000 156040895 Xq 300010 DXS435E, A11 A-11 gene -chrX 61000000 156040895 Xq 300125 MGR2 Migraine, familial typical, susceptibility to, 2 8249 {Migraine, familial typical, susceptibility to, 2}, 300125 (2), X-linked -chrX 61000000 156040895 Xq 300259 MTBSX Mycobacterium tuberculosis, susceptibility to, X-linked 57789 {Mycobacterium tuberculosis, susceptibility, X-linked}, 300259 (2) -chrX 63634966 63785545 Xq22.1 Xq11.1 300429 ARHGEF9, PEM2, KIAA0424, DEE8 Rho guanine nucleotide exchange factor 9 ARHGEF9 23229 ENSG00000131089 Developmental and epileptic encephalopathy 8, 300607 (3), X-linked Arhgef9 (MGI:2442233) -chrX 63800000 68500000 Xq11-q12 300710 AGA2 Alopecia, androgenetic, 2 100188771 associated with rs6152 Alopecia, androgenetic, 2, 300710 (2) -chrX 63800000 65400000 Xq11.2 300266 SPG16 Spastic paraplegia 16, X-linked, complicated 57760 Spastic paraplegia 16, X-linked, complicated, 300266 (2), X-linked recessive -chrX 64185116 64205707 Xq11.1 Xq11.2 300647 AMER1, FAM123B, WTX, OSCS APC membrane recruitment protein 1 AMER1 139285 ENSG00000184675 Osteopathia striata with cranial sclerosis, 300373 (3), X-linked dominant Amer1 (MGI:1919595) -chrX 64224193 64230606 Xq11.2 Xq11.2 300891 ASB12 Ankyrin repeat- and SOCS box-containing protein 12 ASB12 142689 ENSG00000198881 Asb12 (MGI:1917642) -chrX 64268080 64395451 Xq11.2 Xq11.2 301061 MTMR8 Myotubularin-related protein 8 MTMR8 55613 ENSG00000102043 -chrX 64915806 65034740 Xq11.2 Xq11.2 300897 ZC4H2, KIAA1166, WRWF, MRXS4, WRWFFR Zinc finger C4H2 domain-containing protein ZC4H2 55906 ENSG00000126970 Wieacker-Wolff syndrome, 314580 (3), X-linked recessive; Wieacker-Wolff syndrome, female-restricted, 301041 (3), X-linked dominant Zc4h2 (MGI:2679294) -chrX 65034814 65507886 Xq12 Xq11-q12 300889 ZC3H12B, MCPIP2 Zinc finger CCCH domain-containing protein 12B ZC3H12B 340554 ENSG00000102053 Zc3h12b (MGI:2442133) -chrX 65400000 99100000 Xq12-q21.3 300454 MRX77 Mental retardation, X-linked 77 93991 Mental retardation, X-linked 77, 300454 (2), X-linked recessive -chrX 65400000 92700000 Xq12-q21.31 300709 MRXS9 Mental retardation, X-linked, syndromic 9 between DXS1111 and DXS1197 Mental retardation, X-linked, syndromic 9, 300709 (2) -chrX 65512581 65534786 Xq12 Xq12 300964 LAS1L, MRXSWTS Las1-like ribosome biogenesis factor LAS1L 81887 ENSG00000001497 Wilson-Turner syndrome, 309585 (3), X-linked recessive Las1l (MGI:1923380) -chrX 65588381 65741930 Xq11.2-q12 Xq12 309845 MSN, IMD50 Moesin MSN 4478 ENSG00000147065 Immunodeficiency 50, 300988 (3), X-linked recessive Msn (MGI:97167) -chrX 66018869 66018978 Xq12 Xq12 300694 MIR223, MIRN223 Micro RNA 223 MIR223 407008 ENSG00000284567 Mir223 (MGI:2684360) -chrX 66021737 66040091 Xq12 Xq12 300353 Z39IG Immunoglobulin superfamily protein Z39IG VSIG4 11326 ENSG00000155659 Vsig4 (MGI:2679720) -chrX 66162525 66268862 Xq11-q12 Xq12 300167 HEPH Hephaestin HEPH 9843 ENSG00000089472 Heph (MGI:1332240) -chrX 66594383 66639302 Xq12 Xq12 300276 EDAR2, XEDAR, EDAA2R Ectodysplasin A2 receptor EDA2R 60401 ENSG00000131080 Eda2r (MGI:2442860) -chrX 67544020 67730618 Xq11-q12 Xq12 313700 AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 Androgen receptor (dihydrotestosterone receptor) AR 367 ENSG00000169083 Androgen insensitivity, partial, with or without breast cancer, 312300 (3), X-linked recessive; {Prostate cancer, susceptibility to}, 176807 (3), Somatic mutation, Autosomal dominant; Androgen insensitivity, 300068 (3), X-linked recessive; Spinal and bulbar muscular atrophy of Kennedy, 313200 (3), X-linked recessive; Hypospadias 1, X-linked, 300633 (3), X-linked recessive Ar (MGI:88064) -chrX 68042343 68433840 Xq12 Xq12 300127 OPHN1, MRXSBL Oligophrenin-1 OPHN1 4983 ENSG00000079482 Intellectual developmental disorder, X-linked syndromic, Billuart type, 300486 (3), X-linked recessive Ophn1 (MGI:2151070) -chrX 68498361 68572458 Xq12-q13.1 Xq-q 300996 YIPF6 YIP1 domain family, member 6 YIPF6 286451 ENSG00000181704 Yipf6 (MGI:1925179) -chrX 68500000 103300000 Xq13.1-q22.1 300580 CFTDX Myopathy, congenital, with fiber-type disproportion, X-linked 100188765 between DXS8019 and DXS99 Myopathy, congenital, with fiber-type disproportion, X-linked, 300580 (2), X-linked dominant -chrX 68647665 68725841 Xq13.1 Xq13.1 300689 STARD8, DLC3, STARTGAP3, KIAA0189 START domain-containing protein 8 STARD8 9754 ENSG00000130052 Stard8 (MGI:2448556) -chrX 68829020 68842159 Xq12 Xq13.1 300035 EFNB1, EPLG2, CFNS, CFND eph-related receptor tyrosine kinase ligand 2 (ephrin B1) EFNB1 1947 ENSG00000090776 ?CFNS also on Xp22 Craniofrontonasal dysplasia, 304110 (3), X-linked dominant Efnb1 (MGI:102708) -chrX 69160745 69165452 Xq13.1 Xq13.1 300420 PJA1 Praja RING finger ubiquitin ligase 1 PJA1 64219 ENSG00000181191 Pja1 (MGI:1101765) -chrX 69616085 70039471 Xq12-q13.1 Xq13.1 300451 EDA, ED1, ECTD1, HED1, STHAGX1 Ectodysplasin A EDA 1896 ENSG00000158813 Tooth agenesis, selective, X-linked 1, 313500 (3), X-linked dominant; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3), X-linked recessive Eda (MGI:1195272) -chrX 70040541 70049969 Xq13.1 Xq13.1 300925 AWAT2, DC4, MFAT Acyl-CoA wax alcohol acyltransferase 2 AWAT2 158835 ENSG00000147160 Awat2 (MGI:3045345) -chrX 70062456 70064178 Xq13.1 Xq13.1 300714 OTUD6A, DUBA2 OTU domain-containing protein 6A OTUD6A 139562 ENSG00000189401 Otud6a (MGI:3644685) -chrX 70133446 70166323 Xq13.1-q13.3 Xq13.1 300139 IGBP1, MRXS28 Immunoglobulin-binding protein 1 IGBP1 3476 ENSG00000089289 mutation identified in 1 MRXS28 family ?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, 300472 (3), X-linked recessive Igbp1,Igbp1b (MGI:1354380,MGI:1346500) -chrX 70177482 70205703 Xq13.1 Xq13.1 300926 DGAT2L6, DC3 Diacylglycerol O-acyltransferase 2-like 6 DGAT2L6 347516 ENSG00000184210 Dgat2l6 (MGI:3045268) -chrX 70233488 70240660 Xq13.1 Xq13.1 300924 AWAT1, DGA2 Acyl-CoA wax alcohol acyltransferase 1 AWAT1 158833 ENSG00000204195 Awat1 (MGI:3588200) -chrX 70258165 70260203 Xq13 Xq13.1 300038 P2RY4, NRU, P2Y4 Pyrimidinergic receptor P2Y, G-protein coupled, 4 P2RY4 5030 ENSG00000186912 P2ry4 (MGI:1926594) -chrX 70268333 70281839 Xcen-q21 Xq13.1 301770 ARR3, MYP26 Arrestin 3, retinal ARR3 407 ENSG00000120500 Myopia 26, X-linked, female-limited, 301010 (3), X-linked Arr3 (MGI:2159617) -chrX 70286594 70289957 Xq13.1 Xq13.1 300632 PDZD11, AIPP1, PISP PDZ domain-containing 11 PDZD11 51248 ENSG00000120509 Pdzd11 (MGI:1919871) -chrX 70290103 70420885 Xq13.1 Xq13.1 300521 KIF4A, KIF4, XLID100 Kinesin family member 4A KIF4A 24137 ENSG00000090889 mutation identified in 1 XLID100 family ?Intellectual developmental disorder, X-linked 100, 300923 (3), X-linked recessive Kif4 (MGI:108389) -chrX 70423030 70433390 Xq13.1 Xq13.1 300940 GDPD2, GDE3 Glycerophosphodiester phosphodiesterase domain-containing protein 2 GDPD2 54857 ENSG00000130055 Gdpd2 (MGI:1918834) -chrX 70444834 70505489 Xq13.1 Xq13.1 300189 DLG3, NEDLG, SAP102, XLID90 Discs large MAGUK scaffold protein 3 DLG3 1741 ENSG00000082458 Intellectual developmental disorder, X-linked 90, 300850 (3), X-linked recessive Dlg3 (MGI:1888986) -chrX 70511226 70908710 Xq13.1 Xq13.1 300311 TEX11, SPGFX2 Testis-expressed gene 11 TEX11 56159 ENSG00000120498 Spermatogenic failure, X-linked, 2, 309120 (3), X-linked recessive Tex11 (MGI:1933237) -chrX 70925578 70931095 Xq13.1 Xq13.1 300443 SLC7A3, CAT3 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 SLC7A3 84889 ENSG00000165349 Slc7a3 (MGI:1100521) -chrX 71059246 71073425 Xq13.1 Xq13.1 300883 SNX12 Sorting nexin 12 SNX12 29934 ENSG00000147164 Snx12 (MGI:1919331) -chrX 71095850 71103533 Xq13.1 Xq13.1 300033 FOXO4, MLLT7, AFX1 Forkhead box O4 FOXO4 4303 ENSG00000184481 Foxo4 (MGI:1891915) -chrX 71107403 71111576 Xq13 Xq13.1 308380 IL2RG, SCIDX1, SCIDX, IMD4 Interleukin-2 receptor, gamma IL2RG 3561 ENSG00000147168 linked to DXS159 Combined immunodeficiency, X-linked, moderate, 312863 (3), X-linked recessive; Severe combined immunodeficiency, X-linked, 300400 (3), X-linked recessive Il2rg (MGI:96551) -chrX 71118595 71142449 Xq13 Xq13.1 300188 MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX Mediator complex subunit 12 MED12 9968 ENSG00000184634 Lujan-Fryns syndrome, 309520 (3), X-linked recessive; Ohdo syndrome, X-linked, 300895 (3), X-linked recessive; Opitz-Kaveggia syndrome, 305450 (3), X-linked recessive Med12 (MGI:1926212) -chrX 71144388 71175306 Xq13 Xq13.1 300336 NLGN3, ASPGX1, AUTSX1 Neuroligin 3 NLGN3 54413 ENSG00000196338 {Asperger syndrome susceptibility, X-linked 1}, 300494 (3), Multifactorial, Isolated cases, X-linked; {Autism susceptibility, X-linked 1}, 300425 (3), X-linked Nlgn3 (MGI:2444609) -chrX 71215238 71225515 Xq13.1 Xq13.1 304040 GJB1, CX32, CMTX1 Gap junction protein, beta-1, 32kD (connexin 32) GJB1 2705 ENSG00000169562 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3), X-linked dominant Gjb1 (MGI:95719) -chrX 71239623 71255196 Xq13.1 Xq13.1 300061 ZMYM3, ZNF261, DXS6673E Zinc finger, MYM-type 3 ZMYM3 9203 ENSG00000147130 Zmym3 (MGI:1927231) -chrX 71283634 71301167 Xq13.1 Xq13.1 300084 NONO, NRB54, MRXS34 Non-Pou domain-containing octamer (ATGCAAAT) binding protein (nuclear RNA-binding protein, 54-kD) NONO 4841 ENSG00000147140 2Mb proximal to PHKA1 Intellectual developmental disorder, X-linked syndromic 34, 300967 (3), X-linked Nono (MGI:1855692) -chrX 71301749 71305370 Xq12-q13 Xq13.1 300332 ITGB1BP2 Integrin, beta-1, binding protein of, 2 ITGB1BP2 26548 ENSG00000147166 Itgb1bp2 (MGI:1353420) -chrX 71366219 71530524 Xq13 Xq13.1 313650 TAF1, TAF2A, CCG1, BA2R, DYT3, MRXS33 TAF1 RNA polymerase II, TATA box-binding protein-associated factor, 250kD TAF1 6872 ENSG00000147133 SVA retrotransposon insertion Intellectual developmental disorder, X-linked syndromic 33, 300966 (3), X-linked recessive; Dystonia-Parkinsonism, X-linked, 314250 (3), X-linked recessive Taf1 (MGI:1336878) -chrX 71491680 71492448 Xq12 Xq13.1 300452 INGX, ING2 Inhibitor of growth, X-linked INGX 27160 ENSG00000243468 -chrX 71533103 71575891 Xq13 Xq13.1 300255 OGT, XLID106 O-linked N-acetylglucosamine transferase OGT 8473 ENSG00000147162 Intellectual developmental disorder, X-linked 106, 300997 (3), X-linked recessive Ogt (MGI:1339639) -chrX 71578040 71613582 Xq13.1 Xq13.1 300369 ACRC Acidic repeat-containing gene GCNA 93953 ENSG00000147174 -chrX 71615912 71618514 Xq13 Xq13.1 300574 CXCR3, GPR9, CD182 Chemokine, C-X-C motif, receptor 3 (G protein-coupled receptor-9) CXCR3 2833 ENSG00000186810 previously assigned to chr.8 Cxcr3 (MGI:1277207) -chrX 72181675 72263963 Xq13 Xq13.1 300252 PIN4, PAR14, EPVH Peptidyl-prolyl cis/trans isomerase, nima-interacting, 4 PIN4 5303 ENSG00000102309 Pin4-ps,Pin4 (MGI:3643618,MGI:1916963) -chrX 72204664 72239026 Xq13.1 Xq13.1 300687 ERCC6L, PICH ERCC6-like ERCC6L 54821 ENSG00000186871 Ercc6l (MGI:2654144) -chrX 72272041 72277247 Xq13.1 Xq13.1 312760 RPS4X, CCG2, SCAR Ribosomal protein S4, X-linked RPS4X 6191 ENSG00000198034 cen-RPS4X-PHKA1-XIST-qter in 2.6Mb Rps4x (MGI:98158) -chrX 72301645 72307156 Xq13.1 Xq13.1 300149 MSG1 Melanocyte-specific gene 1 CITED1 4435 ENSG00000125931 Cited1 (MGI:108023) -chrX 72329515 72573098 Xq13 Xq13.1 300269 HDAC8, MRXS6, CDLS5 Histone deacetylase 8 HDAC8 55869 ENSG00000147099 Cornelia de Lange syndrome 5, 300882 (3), X-linked dominant Hdac8 (MGI:1917565) -chrX 72578813 72714305 Xq13 Xq13.1 311870 PHKA1 Phosphorylase kinase, muscle, alpha polypeptide PHKA1 5255 ENSG00000067177 ?proximal and close to PGKA; Muscle glycogenosis, 300559 (3), X-linked recessive Phka1 (MGI:97576) -chrX 72872024 72943836 Xq13 Xq13.1 300878 DMRTC1 Doublesex- and MAB3-related transcription factor C1 DMRTC1 63947 ENSG00000269502 Dmrtc1a (MGI:1918137) -chrX 73000000 74700000 Xq13.2 300262 MRXSAB Abidi X-linked mental retardation syndrome 57792 Mental retardation, X-linked syndromic, Abidi type, 300262 (2) -chrX 73212298 73214850 Xq13.2 Xq13.2 300026 NAP1L2, BPX Nucleosome assembly protein 1-like 2 NAP1L2 4674 ENSG00000186462 Nap1l2 (MGI:106654) -chrX 73447052 73455170 Xq13.2 Xq13.2 300025 CDX4 Caudal type homeo box transcription factor 4 CDX4 1046 ENSG00000131264 Cdx4 (MGI:88362) -chrX 73563044 73687110 Xq13.2 Xq13.2 300922 CHIC1, BRX Cystein-rich hydrophobic domain protein 1 CHIC1 53344 ENSG00000204116 Chic1 (MGI:1344694) -chrX 73792204 73829230 Xq13.2 Xq13.2 300181 TSIX X-inactivation-specific transcript-antisense TSIX 9383 ENSG00000270641 Tsix (MGI:1336196) -chrX 73820650 73852752 Xq13.2 Xq13.2 314670 XIC, XCE, XIST, SXI1 X chromosome controlling element (X-inactivation center) XIST 7503 ENSG00000229807 q13-q21; metaphase bend, or fold, at q13.3-q21.1 X-inactivation, familial skewed, 300087 (3) Xist (MGI:98974) -chrX 73944323 74070383 Xq13.2 Xq13.2 300832 NCRNA00183, JPX, ENOX Noncoding RNA 183 JPX 554203 ENSG00000225470 Jpx (MGI:2180008) -chrX 74028135 74293573 Xq13.2 Xq13.2 300936 FTX, LINC00182 FTX transcript, XIST regulator, noncoding FTX 100302692 ENSG00000230590 Ftx (MGI:1926128) -chrX 74421492 74533915 Xq13.2 Xq13.2 300095 SLC16A2, DXS128, XPCT Solute carrier family 16 (monocarboxylic acid transporters), member 2 SLC16A2 6567 ENSG00000147100 Allan-Herndon-Dudley syndrome, 300523 (3), X-linked Slc16a2 (MGI:1203732) -chrX 74582975 74614623 Xq13-q21 Xq13.2 300379 RLIM, RNF12, TOKAS RING finger protein, LIM domain-interacting RLIM 51132 ENSG00000131263 Tonne-Kalscheuer syndrome, 300978 (3), X-linked Rlim (MGI:1342291) -chrX 74700000 76800000 Xq13.3 300577 MRX91 Mental retardation, X-linked 91 t(X;15)(q13.3;cen) Mental retardation, X-linked 91, 300577 (4), X-linked dominant -chrX 74700000 76800000 Xq13 300074 XCE, XITE X chromosome-controlling element XCE 7497 -chrX 74732855 74925451 Xq13.2 Xq13.3 300524 NEXMIF, KIAA2022, XLID98 Neurite extension and migration factor NEXMIF 340533 ENSG00000050030 inv(X)(q13;p22) Intellectual developmental disorder, X-linked 98, 300912 (3), X-linked dominant Nexmif (MGI:2148050) -chrX 75051047 75156282 Xq13.1-q13.3 Xq13.3 300135 ABCB7, ABC7, ASAT ATP-binding cassette-7 ABCB7 22 ENSG00000131269 Anemia, sideroblastic, with ataxia, 301310 (3), X-linked recessive Abcb7 (MGI:109533) -chrX 75156368 75304896 Xq13.3 Xq13.3 300656 UPRT Uracil phosphoribosyltransferase, S. cerevisiae, homolog of UPRT 139596 ENSG00000094841 Uprt (MGI:2685620) -chrX 75368426 75523258 Xq13.3 Xq13.3 300576 ZDHHC15 Zinc finger DHHC domain-containing protein 15 ZDHHC15 158866 ENSG00000102383 Zdhhc15 (MGI:1915336) -chrX 75582653 75585916 Xq13.3 Xq13.3 300956 BRAFP1 BRAF pseudogene 1 BRAFP1 286494 ENSG00000224775 -chrX 75782986 75785253 Xq13.1 Xq13.3 300760 MAGEE2 Melanoma antigen, family E, 2 MAGEE2 139599 ENSG00000186675 Magee2 (MGI:2148316) -chrX 76427709 76431341 Xq13.1 Xq13.3 300759 MAGEE1, DAMAGE, KIAA1587 Melanoma antigen, family E, 1 MAGEE1 57692 ENSG00000198934 Magee1 (MGI:2148149) -chrX 77447388 77457277 Xq21.1 Xq21.1 300827 FGF16, MF4 Fibroblast growth factor 16 FGF16 8823 ENSG00000196468 previously mapped to 8q21.3 Metacarpal 4-5 fusion, 309630 (3), X-linked recessive Fgf16 (MGI:1931627) -chrX 77504879 77786234 Xq13 Xq21.1 300032 ATRX, XH2, XNP, SHS, SFM1, MRXHF1 ATRX chromatin remodeler ATRX 546 ENSG00000085224 Alpha-thalassemia/mental retardation syndrome, 301040 (3), X-linked dominant; Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3), X-linked recessive Atrx (MGI:103067) -chrX 77825746 77895567 Xq13.1-q13.2 Xq21.1 300715 MAGT1, IAP, XMEN, CDG1CC Magnesium transporter 1 MAGT1 84061 ENSG00000102158 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3), X-linked recessive; Congenital disorder of glycosylation, type Icc, 301031 (3), X-linked recessive Magt1 (MGI:1914325) -chrX 77899467 77907375 Xq21.1 Xq21.1 300885 COX7B, LSDMCA2 Cytochrome c oxidase, subunit VIIb COX7B 1349 ENSG00000131174 Linear skin defects with multiple congenital anomalies 2, 300887 (3), X-linked dominant Cox7b (MGI:1913392) -chrX 77910692 78050394 Xq12-q13 Xq21.1 300011 ATP7A, MNK, MK, OHS, SMAX3 ATPase, Cu++ transporting, alpha polypeptide ATP7A 538 ENSG00000165240 probably Xq13.2-q13.3, ~150kb prox. to PGK1 Occipital horn syndrome, 304150 (3), X-linked recessive; Spinal muscular atrophy, distal, X-linked 3, 300489 (3), X-linked recessive; Menkes disease, 309400 (3), X-linked recessive Atp7a (MGI:99400) -chrX 77967948 77969637 Xq13.3 Xq21.1 300567 PGAM4, PGAM3 Phosphoglycerate mutase family member 4 PGAM4 441531 ENSG00000226784 Pgam1 (MGI:97552) -chrX 78104247 78129294 Xq13 Xq21.1 311800 PGK1, PGKA Phosphoglycerate kinase-1 PGK1 5230 ENSG00000102144 ?Xq13.3; pseudogenes PGK1P1 on Xq, PGK1P2 on chr. 6 Phosphoglycerate kinase 1 deficiency, 300653 (3), X-linked recessive Pgk1 (MGI:97555) -chrX 78129747 78139649 Xq13.1-q22.1 Xq21.1 300754 TAF9B, TAF9L, TAFII31L TAF9B RNA polymerase II, TATA box-binding protein-associated factor, 31kD TAF9B 51616 ENSG00000187325 Taf9b (MGI:3039562) -chrX 78271467 78327610 Xq13-q21 Xq21.1 300201 CYSLTR1, CYSLT1 Cysteinyl leukotriene receptor 1 CYSLTR1 10800 ENSG00000173198 Cysltr1 (MGI:1926218) -chrX 78747657 78758713 Xq13-q21.1 Xq21.1 300086 LPAR4, LPA4, P2RY9, P2Y9, GPR23 Lysophosphatidic acid receptor 4 LPAR4 2846 ENSG00000147145 Lpar4 (MGI:1925384) -chrX 78945390 78963726 Xq21.1 Xq21.1 300529 P2RY10, P2Y10 Purinergic receptor P2Y, G protein-coupled, 10 P2RY10 27334 ENSG00000078589 P2ry10 (MGI:1926076) -chrX 79144687 79175317 Xq21.1 Xq21.1 300903 GPR174, GPCR17 G protein-coupled receptor 174 GPR174 84636 ENSG00000147138 Gpr174 (MGI:2685222) -chrX 79360383 79367333 Xq13.3-q21.2 Xq21.1 300222 ITM2A, E25A Integral membrane protein 2A ITM2A 9452 ENSG00000078596 Itm2a (MGI:107706) -chrX 80014752 80031773 Xq12-q21 Xq21.1 300307 TBX22, CPX, ABERS T-box 22 TBX22 50945 ENSG00000122145 1 ABERS family identified with mutation Cleft palate with ankyloglossia, 303400 (3), X-linked; ?Abruzzo-Erickson syndrome, 302905 (3), X-linked Tbx22 (MGI:2389465) -chrX 80335438 80446884 Xq21.1 Xq21.1 300976 FAM46D Family with sequence similarity 46, member D TENT5D 169966 ENSG00000174016 Tent5d (MGI:2685223) -chrX 80669502 80809876 Xq13 Xq21.1 300553 BRWD3, MRX93, XLID93 Bromodomain-and WD repeat-containing protein 3 BRWD3 254065 ENSG00000165288 Intellectual developmental disorder, X-linked 93, 300659 (3), X-linked recessive Brwd3 (MGI:3029414) -chrX 81113698 81201912 Xq13 Xq21.1 300385 NSBP1 Nucleosomal binding protein 1 HMGN5 79366 ENSG00000198157 Hmgn5 (MGI:1355295) -chrX 81201983 81298546 Xq13.3 Xq21.1 300190 SH3BGR SH3-binding domain glutamic acid-rich protein-like SH3BGRL 6451 ENSG00000131171 Sh3bgrl (MGI:1930849) -chrX 83508289 83512126 Xq21.1 Xq21.1 300039 POU3F4, DFN3, DFNX2 POU domain, class 3, transcription factor 4 POU3F4 5456 ENSG00000196767 Deafness, X-linked 2, 304400 (3), X-linked recessive Pou3f4 (MGI:101894) -chrX 83861134 83886699 Xq21.1 Xq21.1 300768 CYLC1 Cylicin 1 CYLC1 1538 ENSG00000183035 Cylc1 (MGI:1914657) -chrX 84058345 84188198 Xq21 Xq21.1 300303 RPS6KA6, RSK4 Ribosomal protein S6 kinase A6 RPS6KA6 27330 ENSG00000072133 Rps6ka6 (MGI:1914321) -chrX 84317877 84502577 Xq21.1 Xq21.1 300994 HDX, CXorf43 Highly divergent homeobox HDX 139324 ENSG00000165259 Hdx (MGI:2685226) -chrX 85003851 85093314 Xq21.2 Xq21.1 300955 APOOL, FAM121A, Cxorf33 Apolipoprotein O-like APOOL 139322 ENSG00000155008 Apool (MGI:1915367) -chrX 85243819 85273361 Xq21.1-q21.3 Xq21.1 314990 ZNF711, ZNF6, CMPX1, XLID97 Zinc finger protein-711 ZNF711 7552 ENSG00000147180 Intellectual developmental disorder, X-linked 97, 300803 (3), X-linked Zfp711 (MGI:3045342) -chrX 85277395 85379708 Xq21 Xq21.1 300603 FLJ22792, POF1B, POF2B FLJ22792 gene POF1B 79983 ENSG00000124429 mutation identified in 1 POF2B family ?Premature ovarian failure 2B, 300604 (3), X-linked recessive Pof1b (MGI:1916943) -chrX 85861179 86047557 Xq21.2 Xq21.2 300390 CHM, TCD CHM Rab escort protein CHM 1121 ENSG00000188419 Choroideremia, 303100 (3), X-linked dominant Chm (MGI:892979) -chrX 86148450 86832601 Xq21.3 Xq21.2 300608 DACH2 Dachshund family transcription factor 2 DACH2 117154 ENSG00000126733 Dach2 (MGI:1890446) -chrX 87517729 87670049 Xq21.3 Xq21.31 300348 KLHL4 Kelch-like 4 KLHL4 56062 ENSG00000102271 Klhl4 (MGI:2442829) -chrX 88747224 88754780 Xq21.3 Xq21.31 301055 CPXCR1 CPX chromosome region, candidate gene 1 CPXCR1 53336 ENSG00000147183 Cpxcr1 (MGI:2685989) -chrX 89921907 89922882 Xp21.3 Xq21.31 300411 TGIF2LX, TGIFLX Transforming growth factor-beta-induced factor 2-like, X-linked TGIF2LX 90316 ENSG00000153779 Tgif2lx1 (MGI:2387796) -chrX 91434838 91438583 Xq21.3 Xq21.31 300407 PABPC5, PABP5 Polyadenylate-binding protein, cytoplasmic, 5 PABPC5 140886 ENSG00000174740 Pabpc5 (MGI:2136401) -chrX 91779309 92623229 Xq21.3 Xq21.31 300246 PCDH11X, PCDH11, PCDHX Protocadherin 11, X-linked PCDH11X 27328 ENSG00000102290 Pcdh11x (MGI:2442849) -chrX 93670929 93673577 Xq21.3-q22 Xq21.32 300117 NAP1L3 Nucleosome assembly protein 1-like 3 NAP1L3 4675 ENSG00000186310 Nap1l3 (MGI:1859565) -chrX 94300000 99100000 Xq21.3 300756 AD16 Alzheimer disease 16 100271718 associated with rs5984894 {Alzheimer disease 16}, 300756 (2) -chrX 94300000 99100000 Xq21 303110 DELXq21, CXDELq21 Chromosome Xq21 deletion syndrome at least CHM and POU3F4 deleted Xq21 deletion syndrome, 303110 (4), X-linked recessive -chrX 94300000 117400000 Xq21.33-q23 300861 MRXSCS Mental retardation, X-linked, syndromic, Chudley-Schwartz type 100820761 max lod at DXS1120 Mental retardation, X-linked, syndromic, Chudley-Schwartz type, 300861 (2), X-linked recessive -chrX 94300000 129500000 Xq21-q25 300557 PARK12 Parkinson disease-12 677662 max lod with DXS1106, DXS8055, DXS1001 {Parkinson disease 12}, 300557 (2) -chrX 96684841 97604996 Xq22 Xq21.33 300108 DIAPH2, DIA, POF2A diaphanous-related formin 2 DIAPH2 1730 ENSG00000147202 mutation identified in 1 POF2A family ?Premature ovarian failure 2A, 300511 (3), X-linked dominant Diaph2 (MGI:1858500) -chrX 96883907 96885466 Xq21.33 Xq21.33 300767 RPA4 Replication protein A4 RPA4 29935 ENSG00000204086 -chrX 97528363 97564534 Xq21-q22 Xq21.33 300347 EPAG Early lymphoid activation gene DIAPH2-AS1 10824 ENSG00000236256 -chrX 100291643 100410272 Xq22 Xq22.1 300460 PCDH19, KIAA1313, EFMR, DEE9 Protocadherin 19 PCDH19 57526 ENSG00000165194 Developmental and epileptic encephalopathy 9, 300088 (3), X-linked Pcdh19 (MGI:2685563) -chrX 100584935 100599884 Xq22 Xq22.1 300459 TNMD, TEM, CHM1L Tenomodulin TNMD 64102 ENSG00000000005 Tnmd (MGI:1929885) -chrX 100627107 100637103 Xq22 Xq22.1 300191 TSPAN6, TM4SF6 Tetraspanin 6 TSPAN6 7105 ENSG00000000003 Tspan6 (MGI:1926264) -chrX 100644198 100675787 Xq21.33-q23 Xq22.1 300642 SRPX2, SRPUL, RESDX SUSHI repeat-containing protein, X-linked, 2 SRPX2 27286 ENSG00000102359 mutation identified in 1 RESDX family ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, 300643 (3) Srpx2 (MGI:1916042) -chrX 100671963 100732136 Xq21.33 Xq22.1 300723 SYTL4 Synaptotagmin-like 4 SYTL4 94121 ENSG00000102362 Sytl4 (MGI:1351606) -chrX 100820368 100843533 Xq22.1 Xq22.1 300907 CSTF64 Cleavage stimulation factor, 3-prime pre-RNA, subunit 2, 64kD CSTF2 1478 ENSG00000101811 Cstf2 (MGI:1343054) -chrX 100843323 100874358 Xq22 Xq22.1 300225 NOX1, MOX1, NOH1 NADPH oxidase 1 NOX1 27035 ENSG00000007952 Nox1 (MGI:2450016) -chrX 100886918 100957400 Xq22.1 Xq22.1 300684 XKRX, XPLAC, XKR2, XRG2 X Kell blood group precursor-related, X-linked XKRX 402415 ENSG00000182489 Xkrx (MGI:3584011) -chrX 101098158 101181846 Xq22 Xq22.1 300065 FSHPRH1, LRPR1 FSH primary response, rat, homolog of, 1 CENPI 2491 ENSG00000102384 Cenpi (MGI:2147897) -chrX 101219785 101264501 Xq22 Xq22.1 300052 DRP2 Dystrophin-related protein 2 DRP2 1821 ENSG00000102385 Drp2 (MGI:107432) -chrX 101268256 101293082 Xq22.1 Xq22.1 300314 TAF7L, TAF2Q TATA-box binding protein-associated factor 7-like TAF7L 54457 ENSG00000102387 Taf7l,Taf7l2 (MGI:1921719,MGI:6274337) -chrX 101345660 101348741 Xq22 Xq22.1 300356 TIMM8A, DFN1, DDP, MTS, DDP1 Translocase of inner mitochondrial membrane 8A TIMM8A 1678 ENSG00000126953 Mohr-Tranebjaerg syndrome, 304700 (3), X-linked recessive Timm8a1,Timm8a2 (MGI:1353433,MGI:3615492) -chrX 101349449 101390795 Xq21.3-q22 Xq22.1 300300 BTK, AGMX1, IMD1, XLA, AT, IGHD3 Bruton agammaglobulinemia tyrosine kinase BTK 695 ENSG00000010671 Agammaglobulinemia, X-linked 1, 300755 (3), X-linked recessive; Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3), X-linked recessive Btk (MGI:88216) -chrX 101391010 101396154 Xq22.1 Xq22.1 300902 RPL36A, RPL44 Ribosomal protein L36A RPL36A 6173 ENSG00000241343 Rpl36a,Rpl36al (MGI:1913733,MGI:1201789) -chrX 101397802 101407924 Xq22 Xq22.1 300644 GLA Galactosidase, alpha GLA 2717 ENSG00000102393 Fabry disease, cardiac variant, 301500 (3), X-linked; Fabry disease, 301500 (3), X-linked Gla (MGI:1347344) -chrX 101408221 101414132 Xq22 Xq22.1 300610 HNRNPH2, NRPH2, MRXSB Heterogeneous nuclear ribonucleoprotein H2 HNRNPH2 3188 ENSG00000126945 Intellectual developmental disorder, X-linked, syndromic, Bain type, 300986 (3), X-linked dominant Hnrnph2 (MGI:1201779) -chrX 101418277 101535987 Xq22.1 Xq22.1 301046 ARMCX4 Armadillo repeat-containing protein, X-linked 4 ARMCX4 100131755 ENSG00000196440 Armcx4 (MGI:2147887) -chrX 101550546 101554699 Xq21.33-q22.2 Xq22.1 300362 ARMCX1, ALEX1 Armadillo repeat-containing protein, X-linked 1 ARMCX1 51309 ENSG00000126947 Armcx1 (MGI:1925498) -chrX 101615119 101617999 Xq22.1 Xq22.1 301048 ARMCX Armadillo repeat-containing protein, X-linked 6 ARMCX6 54470 ENSG00000198960 Armcx6 (MGI:2147993) -chrX 101623137 101631909 Xq21.33-q22.2 Xq22.1 300364 ARMCX3, ALEX3 Armadillo repeat-containing protein, X-linked 3 ARMCX3 51566 ENSG00000102401 Armcx3 (MGI:1918953) -chrX 101655280 101659877 Xq21.33-q22.2 Xq22.1 300363 ARMCX2, ALEX2, KIAA0512 Armadillo repeat-containing protein, X-linked 2 ARMCX2 9823 ENSG00000184867 Armcx2 (MGI:1914666) -chrX 101832111 101857576 Xq22.1 Xq22.1 300319 NXF5 Nuclear RNA export factor 5 NXF5 55998 ENSG00000126952 Nxf2 (MGI:1933192) -chrX 101882287 101932134 Xq22.1 Xq22.1 301007 ZMAT1, KIAA1789 Zinc finger, matrin-type 1 ZMAT1 84460 ENSG00000166432 Zmat1 (MGI:2442284) -chrX 102153711 102155976 Xq22.1 Xq22.1 300693 BEX5, NGFRAP1L1 BEX family member 5 BEX5 340542 ENSG00000184515 -chrX 102247166 102326721 Chr.X Xq22.1 300315 NXF2 Nuclear RNA export factor 2 NXF2 56001 ENSG00000269405 Tcp11x2 (MGI:1919091) -chrX 102513681 102516738 Xq22.1 Xq22.1 300939 TMSB15A, TMSB15, TMSNB Thymosin, beta-15A TMSB15A 11013 ENSG00000158164 Tmsb15a,Tmsb15l (MGI:1925728,MGI:3026988) -chrX 102549964 102571692 Xq22.1-q22.3 Xq22.1 300318 NXF4 Nuclear RNA export factor 4 NXF4 55999 ENSG00000196970 -chrX 102599205 102604158 Xq22.1 Xq22.1 301047 ARMCX5 Armadilla repeat-containing protein, X-linked 5 ARMCX5 64860 ENSG00000125962 Armcx5 (MGI:2148026) -chrX 102651482 102659082 Xq22 Xq22.1 300417 GPRASP1, GASP, KIAA0443 G protein-coupled receptor-associated sorting protein 1 GPRASP1 9737 ENSG00000198932 conflicting assignment to chr.9 Gprasp1 (MGI:1917418) -chrX 102712447 102717732 Xq22.1 Xq22.1 300969 GPRASP2, GASP2, DFNX7 G protein-coupled receptor-associated sorting protein 2 GPRASP2 114928 ENSG00000158301 mutation identified in 1 DFNX7 family ?Deafness, X-linked 7, 301018 (3), X-linked recessive Gprasp2 (MGI:2442071) -chrX 102720742 102753539 Xq22.1 Xq22.1 300921 BHLHB9, P60TRP, KIAA1701 Basic helix-loop-helix domain-containing protein, class B, 9 BHLHB9 80823 ENSG00000198908 Bhlhb9 (MGI:1917487) -chrX 102937271 102938299 Xq22.2 Xq22.1 300405 RAB40AL, RLGP, MRXSMP Ras-associated protein, RAB40A-like RAB40AL 282808 ENSG00000102128 Rab40b (MGI:2183451) -chrX 103062650 103064170 Xq22.1-q22.2 Xq22.1 300690 BEX1 Brain-expressed X-linked gene 1 BEX1 55859 ENSG00000133169 Bex2 (MGI:1338017) -chrX 103075809 103093142 Xq21.3-q22.3 Xq22.1 300316 NXF3 Nuclear RNA export factor 3 NXF3 56000 ENSG00000147206 Nxf3 (MGI:2685230) -chrX 103215091 103217245 Xq22.2 Xq22.1 300692 BEX4 BEX family member 4 BEX4 56271 ENSG00000102409 Bex4,Bex6 (MGI:3606746,MGI:3588247) -chrX 103300000 138900000 Xq22.2-q26 300324 MRX53 Mental retardation, X-linked-53 4416 Mental retardation, X-linked 53, 300324 (2), X-linked recessive -chrX 103309345 103310989 Xq22 Xq22.2 300691 BEX2 Brain-expressed X-linked gene 2 BEX2 84707 ENSG00000133134 Bex2,Bex1 (MGI:1338017,MGI:1328321) -chrX 103330238 103332325 Xq22.1-q22.3 Xq22.2 300771 TCEAL7 Transcription elongation factor A-like 7 TCEAL7 56849 ENSG00000182916 Tceal7 (MGI:1915746) -chrX 103376322 103378163 Xq22.1-q23 Xq22.2 300361 NGFRAP1, BEX3, NADE, DXS6984E Nerve growth factor receptor (TNFRSF16) associated protein 1 BEX3 27018 ENSG00000166681 Bex3 (MGI:1338016) -chrX 103628715 103630952 Xq22.1 Xq22.2 300237 TCEAL1, P21, SIIR Transcription elongation factor A-like 1 TCEAL1 9338 ENSG00000172465 Tceal1 (MGI:2385317) -chrX 103675497 103688046 Xq22 Xq22.2 300409 MORFL2, MRGX, KIAA0026 Mortality factor 4-like 2 MORF4L2 9643 ENSG00000123562 Morf4l2 (MGI:1927167) -chrX 103776323 103832256 Xq22.1-q22.3 Xq22.2 300285 RAB9B, RAB9L RAS-associated protein RAB9B RAB9B 51209 ENSG00000123570 Rab9b (MGI:2442454) -chrX 103776505 103792618 Xq22 Xq22.2 300401 PLP1, PMD, HLD1, SPG2 Proteolipid protein 1 PLP1 5354 ENSG00000123560 Pelizaeus-Merzbacher disease, 312080 (3), X-linked recessive; Spastic paraplegia 2, X-linked, 312920 (3), X-linked recessive Plp1 (MGI:97623) -chrX 103919154 103974425 Xq22.2 Xq22.2 301011 TMSB15B Thymosin, beta-15B TMSB15B 286527 ENSG00000158427 opposite strand relative to TMSB15A Tmsb15b1,Tmsb15a,Tmsb15l (MGI:3843059,MGI:1925728,MGI:3026988) -chrX 104011146 104013707 Xq22.2 Xq22.2 300507 H2BFWT H2B histone family, member W, testis-specific H2BW1 158983 ENSG00000123569 H2bw2 (MGI:1916639) -chrX 104099213 104157008 Xq22.2 Xq22.2 300941 SLC25A53 Solute carrier family 25, member 53 SLC25A53 401612 ENSG00000269743 Slc25a53 (MGI:1914312) -chrX 104250037 104254932 Xq22.1-q22.3 Xq22.2 300154 ESX1L, ESXR1 ESX1-like protein ESX1 80712 ENSG00000123576 Esx1 (MGI:1096388) -chrX 104500000 156040895 Xq22-q28 301201 AI1E2, AIH3 Amelogenesis imperfecta, hypomaturation or hypoplastic type, X-linked 2 201 ?Amelogenesis imperfecta, type IE, X-linked 2, 301201 (2), X-linked -chrX 104500000 109400000 Xq22.3 300194 AMMEC, DELXq22.3, CXDELq22.3 Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex) contiguous gene deletion syndrome Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, 300194 (4) -chrX 104500000 109400000 Xq22.3 300581 FGS5 FG syndrome 5 780900 FG syndrome 5, 300581 (2) -chrX 104566198 105769728 Xq22 Xq22.3 300277 IL1RAPL2 Interleukin 1 receptor accessory protein-like 2 IL1RAPL2 26280 ENSG00000189108 Il1rapl2 (MGI:1913106) -chrX 105218928 105220693 Chr.X Xq22.3 300312 TEX13A Testis-expressed gene 13A TEX13A 56157 ENSG00000268629 Tex13a (MGI:1915194) -chrX 105821941 105958609 Xq22.3 Xq22.3 300791 NRK, NESK NIK-related kinase NRK 203447 ENSG00000123572 Nrk (MGI:1351326) -chrX 106032434 106038726 Xq22.2 Xq22.3 314200 TBG, TBGQTL Thyroxine-binding globulin SERPINA7 6906 ENSG00000123561 [Thyroxine-binding globulin QTL], 300932 (3), X-linked Serpina7 (MGI:3041197) -chrX 106693837 106797015 Xq22.3 Xq22.3 300439 RNF128, GRAIL Ring finger protein 128 RNF128 79589 ENSG00000133135 Rnf128 (MGI:1914139) -chrX 106802672 106876149 Xq22.3 Xq22.3 301027 TBC1D8B, NPHS20 TBC1 domain family, member 8B TBC1D8B 54885 ENSG00000133138 Nephrotic syndrome, type 20, 301028 (3), X-linked Tbc1d8b (MGI:1918101) -chrX 106900062 106903340 Xq22.3 Xq22.3 300575 RIPPLY1 Ripply1, zebrafish, homolog of RIPPLY1 92129 ENSG00000147223 Ripply1 (MGI:3614797) -chrX 106900163 106930860 Xq22.3 Xq22.3 300520 CLDN2, OAZON Claudin 2 CLDN2 9075 ENSG00000165376 mutation identified in 1 OAZON family ?Azoospermia, obstructive, with nephrolithiasis, 301060 (3), X-linked recessive Cldn2 (MGI:1276110) -chrX 106940299 107000243 Xq22.3 Xq22.3 300970 MORC4, ZCW4, ZCWCC2 MORC family CW-type zinc finger protein 4 MORC4 79710 ENSG00000133131 Morc4 (MGI:1922996) -chrX 107206610 107244246 Xq22.3 Xq22.3 300933 PIH1D3, CILD36 PIH1 domain-containing protein 3 DNAAF6 139212 ENSG00000080572 Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive Dnaaf6b,Dnaaf6 (MGI:3607720,MGI:1921958) -chrX 107272463 107276555 Xq22-q23 Xq22.3 310310 MYCL2 MYCL-related processed gene MYCLP1 4611 pseudogene on Xq27.3 -chrX 107449651 107605263 Xq22.3 Xq22.3 301005 FRMPD3, KIAA1817 FERM- and PDZ domain-containing protein 3 FRMPD3 84443 ENSG00000147234 Frmpd3 (MGI:3646547) -chrX 107628509 107651025 Xq22-q24 Xq22.3 311850 PRPS1, CMTX5, DFNX1, DFN2 Phosphoribosyl pyrophosphate synthetase-1 PRPS1 5631 ENSG00000147224 Arts syndrome, 301835 (3), X-linked recessive; Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3), X-linked recessive; Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3), X-linked recessive; Deafness, X-linked 1, 304500 (3), X-linked; Gout, PRPS-related, 300661 (3), X-linked recessive Prps1,Prps1l3 (MGI:97775,MGI:3779453) -chrX 107713220 107777328 Xq22.2 Xq22.3 300506 TSC22D3, DSIPI, GILZ TSC22 domain family, member 3 TSC22D3 1831 ENSG00000157514 Tsc22d3 (MGI:1196284) -chrX 107825734 107931636 Xq22 Xq22.3 300204 MID2, XLID101 Midline 2 MID2 11043 ENSG00000080561 mutation identified in 1 XLID101 family ?Intellectual developmental disorder, X-linked 101, 300928 (3), X-linked recessive Mid2 (MGI:1344333) -chrX 107980863 107982369 Chr.X Xq22.3 300313 TEX13B Testis-expressed gene 13B TEX13B 56156 ENSG00000170925 Tex13b (MGI:1890544) -chrX 108018885 108079183 Xq22.1-q22.3 Xq22.3 300620 VSIG1, GPA34 V-set and immunoglobulin domains-containing protein 1 VSIG1 340547 ENSG00000101842 Vsig1 (MGI:1926039) -chrX 108084206 108091541 Xq22.3 Xq22.3 300880 PSMD10, p28 Proteasome 26S subunit, non-ATPase, 10 PSMD10 5716 ENSG00000101843 Psmd10 (MGI:1858898) -chrX 108091777 108154670 Xq22 Xq22.3 300663 ATG4A, APG4A, AUTL2 Autophagy related 4A cysteine peptidase ATG4A 115201 ENSG00000101844 Atg4a (MGI:2147903) -chrX 108155606 108439492 Xq22.3 Xq22.3 303631 COL4A6, DELXq22.3, CXDELq22.3, DFNX6 Collagen IV, alpha-6 polypeptide COL4A6 1288 ENSG00000197565 mutation identified in 1 DFNX6 family ?Deafness, X-linked 6, 300914 (3), X-linked recessive Col4a6 (MGI:2152695) -chrX 108439837 108697544 Xq22.3 Xq22.3 303630 COL4A5, ATS1 Collagen IV, alpha-5 polypeptide COL4A5 1287 ENSG00000188153 diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6 Alport syndrome 1, X-linked, 301050 (3), X-linked dominant Col4a5 (MGI:88456) -chrX 108719945 108736583 Xq22.3 Xq22.3 300904 IRS4, CHNG9 Insulin receptor substrate 4 IRS4 8471 ENSG00000133124 Hypothyroidism, congenital, nongoitrous, 9, 301035 (3), X-linked recessive Irs4 (MGI:1338009) -chrX 109372060 109482085 Xq22 Xq22-q23 300041 GUCY2F, GUC2F Guanylate cyclase 2F GUCY2F 2986 ENSG00000101890 Gucy2f (MGI:105119) -chrX 109400000 138900000 Xq23-q26 300464 CHDS3 Coronary heart disease, susceptibility to, 3 387573 {Coronary heart disease, susceptibility to, 3}, 300464 (2) -chrX 109400000 117400000 Xq23 300711 IHPS4 Pyloric stenosis, infantile hypertrophic, 4 100188772 max lod at rs3027802 Pyloric stenosis, infantile hypertrophic, 4, 300711 (2) -chrX 109400000 121800000 Xq23-q24 300046 MRX23 Mental retardation, X-linked-23 4387 other MRX in same region MRX27, MRX30, MRX35, MRX47, MRX80 Mental retardation, X-linked 23, 300046 (2), X-linked -chrX 109400000 143000000 Xq23-q27.2 300613 MYP13 Myopia 13 677764 between DXS1210 and DXS1227 Myopia 13, 300613 (2) -chrX 109535823 109544697 Xq23 Xq23 300320 NXT2 NTF2-related export protein 2 NXT2 55916 ENSG00000101888 Nxt2 (MGI:2147914) -chrX 109623699 109625171 Xq22.3 Xq23 300328 KCNE1L Potassium voltage-gated channel, Isk-related family, member 1-like KCNE5 23630 ENSG00000176076 Kcne1l (MGI:1913490) -chrX 109641334 109733324 Xq22.3 Xq23 300157 ACSL4, FACL4, ACS4, XLID63 Acyl-CoA synthetase long-chain family member 4 ACSL4 2182 ENSG00000068366 Intellectual developmental disorder, X-linked 63, 300387 (3), X-linked dominant Acsl4 (MGI:1354713) -chrX 110194185 110440232 Xq22.3 Xq23 300195 AMMECR1, MFHIEN Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis chromosomal region gene 1 AMMECR1 9949 ENSG00000101935 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3), X-linked recessive Ammecr1 (MGI:1860206) -chrX 110358100 110456333 Xq23 Xq23 300965 RGAG1, MAR9, KIAA1318 Retrotransposon GAG domain-containing protein 1 RTL9 57529 ENSG00000243978 Rtl9 (MGI:2685231) -chrX 110673855 110795816 Xq22.1-q23 Xq23 300350 CHRDL1, VOPT, MGC1 Chordin-like 1 CHRDL1 91851 ENSG00000101938 Megalocornea 1, X-linked, 309300 (3), X-linked recessive Chrdl1 (MGI:1933172) -chrX 110944323 111227360 Xq23 Xq23 300142 PAK3, MRX30, MRX47, XLID30 p21-activated kinase-3 PAK3 5063 ENSG00000077264 Intellectual developmental disorder, X-linked 30, 300558 (3), X-linked recessive Pak3 (MGI:1339656) -chrX 111245098 111270482 Xq23 Xq23 300146 CAPN6 Calpain 6 CAPN6 827 ENSG00000077274 Capn6 (MGI:1100850) -chrX 111293778 111412204 Xq22.3-q23 Xq23 300121 DCX, DBCN, LISX Doublecortin DCX 1641 ENSG00000077279 Subcortical laminal heterotopia, X-linked, 300067 (3), X-linked; Lissencephaly, X-linked, 300067 (3), X-linked Dcx (MGI:1277171) -chrX 111680740 111764163 Xq23 Xq23 300776 ALG13, GLT28D1, CDG1S, DEE36 ALG13 UDP-N-acetylglucosaminyltransferase subunit ALG13 79868 ENSG00000101901 mutation identified in 1 CDG1S male patient ?Congenital disorder of glycosylation, type Is, 300884 (3), X-linked; Developmental and epileptic encephalopathy 36, 300884 (3), X-linked Glt28d2,Alg13 (MGI:1914824,MGI:2443773) -chrX 111768010 112082942 Xq23 Xq23 300334 TRPC5, TRP5 Transient receptor potential channel 5 TRPC5 7224 ENSG00000072315 Trpc5 (MGI:109524) -chrX 112630647 112680177 Xq23 Xq23 300566 LHFPL1 LHFP tetraspan subfamily, member 1 LHFPL1 340596 ENSG00000182508 Lhfpl1 (MGI:1891214) -chrX 112774876 112840944 Chr.X Xq23 300410 AMOT, KIAA1071 Angiomotin AMOT 154796 ENSG00000126016 Amot (MGI:108440) -chrX 113616299 113618152 Xq23 Xq23 300901 XACT Active X chromosome-coating transcript, noncoding XACT 105463123 -chrX 114584085 114910060 Xq24 Xq23 312861 HTR2C 5-hydroxytryptamine (serotonin) receptor-2C HTR2C 3358 ENSG00000147246 formerly HTR1C Htr2c (MGI:96281) -chrX 114823453 114823563 Xq23 Xq23 300686 MIR448, MIRN448 Micro RNA 448 MIR448 554212 ENSG00000199001 Mir448 (MGI:3619406) -chrX 115003981 115017615 Xq24 Xq23 300130 IL13RA2 Interleukin-13 receptor, alpha-2 IL13RA2 3598 ENSG00000123496 Il13ra2 (MGI:1277954) -chrX 115289714 115307562 Xq23 Xq23 300616 LUZP4 Leucine zipper protein 4 LUZP4 51213 ENSG00000102021 -chrX 115561173 115650860 Xq23 Xq23 300131 PLS3, BMND18 Plastin 3 PLS3 5358 ENSG00000102024 Bone mineral density QTL18, osteoporosis, 300910 (3), X-linked dominant Pls3 (MGI:104807) -chrX 115840395 115969110 Xq23 Xq23 301004 DANT2 DXZ4-associated noncoding transcript 2, distal DANT2 642776 ENSG00000235244 -chrX 115840963 115905526 Xq23 Xq23 301001 DANT1 DXZ4-associated noncoding transcript 1, proximal DANT1 106029310 -chrX 116170743 116174973 Xq23 Xq23 300034 AGTR2 Angiotensin receptor 2 AGTR2 186 ENSG00000180772 Agtr2 (MGI:87966) -chrX 116436605 116461457 Xq23-q24 Xq23 300444 SLC6A14 Solute carrier family 6 (neurotransmitter transporter), member 14 SLC6A14 11254 ENSG00000268104 Slc6a14 (MGI:1890216) -chrX 116461685 116462975 Xq22 Xq23 300625 CT83, KKLC1, CXorf61 Cancer/testis antigen 83 CT83 203413 ENSG00000204019 -chrX 117400000 138900000 Xq24-q26 300700 ADFN, ALDS Albinism-deafness syndrome 122 ~8cM proximal to F9 Albinism-deafness syndrome, 300700 (2), X-linked -chrX 117400000 121800000 Xq24 300306 BMIQ11 Body Mass Index quantitative trait locus 11 {Obesity, susceptibility to, BMIQ11}, 300306 (2) -chrX 117400000 148000000 Xq24-q27 301845 BZX Bazex syndrome 8255 Bazex syndrome, 301845 (2), X-linked dominant -chrX 117400000 156040895 Xq24-qter 304730 CND Corneal dermoids 8231 Dermoids of cornea, 304730 (2), X-linked -chrX 117400000 121800000 Xq24 300360 MRSS Mental retardation, X-linked, with short stature Mental retardation, X-linked, with short stature, 300360 (2) -chrX 117400000 129500000 Xq24-q25 300518 MRX82 Mental retardation, X-linked 82 378484 between DXS6805 and DXS7346 Mental retardation, X-linked 82, 300518 (2), X-linked recessive -chrX 117400000 121800000 Xq24 300852 MRX88 Mental retardation, X-linked 88 105463129 Mental retardation, X-linked 88, 300852 (2), X-linked -chrX 117400000 141200000 Xq24-q27.1 300245 PTOS2, PTOSX Ptosis, hereditary congenital 2 54115 Ptosis, hereditary congenital 2, 300245 (2), X-linked dominant -chrX 117400000 129500000 Xq24-q25 300378 RRDX Radial ray deficiency 266719 Radial ray deficiency, 300378 (2) -chrX 117400000 129500000 Xq24-q25 300750 SPG34 Spastic paraplegia 34, X-linked 724110 max lod at DXS8057 Spastic paraplegia 34, X-linked, 300750 (2), X-linked recessive -chrX 117400000 129500000 Xq24-q25 300591 STQTL6 Stature quantitative trait locus 6 100037264 max lod at DXS8067 {Stature QTL 6}, 300591 (2) -chrX 117897812 118117339 Xq24 Xq24 300655 KLHL13, KIAA1309 Kelch-like 13 KLHL13 90293 ENSG00000003096 Klhl13 (MGI:1914705) -chrX 118495663 118686152 Xq24 Xq24 300681 DOCK11, ACG, ZIZ2 Dedicator of cytokinesis 11 DOCK11 139818 ENSG00000147251 Dock11 (MGI:1923224) -chrX 118726953 118794532 Chr.X Xq24 300119 IL13RA1 Interleukin-13 receptor, alpha-1 IL13RA1 3597 ENSG00000131724 Il13ra1 (MGI:105052) -chrX 118823823 118826967 Xq24 Xq24 300701 ZCCHC12, SIZN1 Zinc finger CCHC domain-containing protein 12 ZCCHC12 170261 ENSG00000174460 Zcchc12,Zcchc18 (MGI:1914245,MGI:1919943) -chrX 119078634 119151082 Xq24 Xq24 300995 KIAA1210 Kiaa1210 gene KIAA1210 57481 ENSG00000250423 Gm14569 (MGI:3705243) -chrX 119236284 119244465 Xq22-q24 Xq24 300435 PGRMC1 Progesterone receptor membrane component 1 PGRMC1 10857 ENSG00000101856 Pgrmc1 (MGI:1858305) -chrX 119399325 119454477 Xq24 Xq24 300641 SLC25A43 Solute carrier family 25, member 43 SLC25A43 203427 ENSG00000077713 Slc25a43 (MGI:2684854) -chrX 119468443 119471395 Xq24-q26 Xq24 300150 SLC25A5, ANT2, T3 Solute carrier family 25 (mitochondrial carrier), member 5 (adenine nucleotide translocator-2, fibroblast) SLC25A5 292 ENSG00000005022 Slc25a5 (MGI:1353496) -chrX 119538148 119565408 Xq24 Xq24 301012 STEEP1, CXorf56, XLID107 STING1 ER exit protein 1 STEEP1 63932 ENSG00000018610 mutation identified in 1 XLID107 family ?Intellectual developmental disorder, X-linked 107, 301013 (3), X-linked Steep1 (MGI:1924894) -chrX 119574562 119584422 Xq24 Xq24 312180 UBE2A, RAD6A, MRXSN, MRXS30 Ubiquitin-conjugating enzyme E2A (RAD6 homolog) UBE2A 7319 ENSG00000077721 Intellectual developmental disorder, X-linked syndromic, Nascimento type, 300860 (3), X-linked recessive Ube2a (MGI:102959) -chrX 119588336 119606423 Xq24 Xq24 300440 NKRF, NRF NFKB-repressing factor NKRF 55922 ENSG00000186416 Nkrf (MGI:1924536) -chrX 119615723 119693195 Xq24 Xq24 300683 SEPT6, SEP2, KIAA0128 Septin 6 SEPTIN6 23157 ENSG00000125354 Septin6 (MGI:1888939) -chrX 119646737 119646847 Xq24 Xq24 301062 MIR766 Micro RNA 766 MIR766 768218 ENSG00000211578 located in intron of SEPT6 -chrX 119786503 119791629 Xq24 Xq24 300899 RPL39 Ribosomal protein L39 RPL39 6170 ENSG00000198918 Rpl39-ps,Rpl39 (MGI:3705781,MGI:1914498) -chrX 119805310 119853027 Xq25-q26 Xq24 300298 UPF3B, RENT3B, MRXS14 UPF3B regulator of nonsense-mediated mRNA decay UPF3B 65109 ENSG00000125351 Intellectual developmental disorder, X-linked syndromic 14, 300676 (3), X-linked recessive Upf3b (MGI:1915384) -chrX 119870474 119871732 Xq24 Xq24 300951 RNF113A, ZNF183, TTD5 RING finger protein 113A RNF113A 7737 ENSG00000125352 Trichothiodystrophy 5, nonphotosensitive, 300953 (3), X-linked dominant Rnf113a1,Rnf113a2 (MGI:1917192,MGI:1913631) -chrX 119871831 119876661 Xq24 Xq24 300078 NDUFA1, MWFE, MC1DN12 NADH-ubiquinone oxidoreductase subunit A1 NDUFA1 4694 ENSG00000125356 Mitochondrial complex I deficiency, nuclear type 12, 301020 (3), X-linked recessive Ndufa1 (MGI:1929511) -chrX 119895892 119920715 Xq24 Xq24 300462 AKAP14, AKAP28 A-kinase anchor protein 14 AKAP14 158798 ENSG00000186471 Akap14 (MGI:3618288) -chrX 119920671 119943750 Xq24 Xq24 300766 NKAP, MRXSHD NFKB-activating protein NKAP 79576 ENSG00000101882 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, 301039 (3), X-linked recessive Nkap (MGI:1914300) -chrX 120010716 120015550 Xq24 Xq24 300973 RHOXF1P1 RHOX homeobox family member 1, pseudogene 1 RHOXF1P1 101928941 ENSG00000234493 -chrX 120109048 120117650 Xq24 Xq24 300446 RHOXF1, OTEX, PEPP1 RHOX homeobox family, member 1 RHOXF1 158800 ENSG00000101883 Rhox11,Rhox10,Rhox12 (MGI:2685994,MGI:2681831,MGI:3580249) -chrX 120158534 120165629 Xq24 Xq24 300447 RHOXF2, PEPP2 RHOX homeobox family, member 2 RHOXF2 84528 ENSG00000131721 Rhox2a,Rhox4c,Rhox4b,Rhox3f,Rhox4g,Rhox2d,Rhox4f,Rhox4e (MGI:3613392,MGI:1930129,MGI:3613394,MGI:3613390,MGI:1922449,MGI:3613386,MGI:3648779,MGI:3770277) -chrX 120250811 120258397 Xq23 Xq24 300329 ZBTB33, KAISO Zinc finger- and BTB domain-containing protein 33 ZBTB33 10009 ENSG00000177485 Zbtb33 (MGI:1927290) -chrX 120426147 120469348 Xq24 Xq24 309060 LAMP2, LAMPB, LGP110, DND Lysosome-associated membrane protein-2 LAMP2 3920 ENSG00000005893 Danon disease, 300257 (3), X-linked dominant Lamp2 (MGI:96748) -chrX 120523857 120575531 Xq23 Xq24 300304 CUL4B, MRXSC, MRXHF2, SFM2, MRXS15 Cullin-4B CUL4B 8450 ENSG00000158290 Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3), X-linked recessive Cul4b (MGI:1919834) -chrX 120604100 120621158 Xq22-q24 Xq24 300587 MCTS1, MCT1 Malignant T-cell amplified sequence 1 MCTS1 28985 ENSG00000232119 Mcts2,Mcts1 (MGI:1913655,MGI:1916245) -chrX 120625673 120630053 Xq23 Xq24 300611 C1GALT1C1, COSMC, C1GALT2, TNPS C1GALT1-specific chaperone 1 C1GALT1C1 29071 ENSG00000171155 Tn polyagglutination syndrome, somatic, 300622 (3) C1galt1c1 (MGI:1913493) -chrX 120872551 120875886 Xq24 Xq24 300790 CT47B1, CT47A13 Cancer/testis antigen family 47, member B1 CT47B1 643311 ENSG00000236446 -chrX 120933839 120937259 Xq24 Xq24 300592 CT47A11, LOC255313 Cancer/testis antigen family 47, member A11 CT47A11 255313 ENSG00000226929 -chrX 120938700 120942120 Xq24 Xq24 300789 CT47A10 Cancer/testis antigen family 47, member A10 CT47A10 728036 ENSG00000224089 -chrX 120943560 120946980 Xq24 Xq24 300788 CT47A9 Cancer/testis antigen family 47, member A9 CT47A9 728042 ENSG00000226600 -chrX 120948421 120951841 Xq24 Xq24 300787 CT47A8 Cancer/testis antigen family 47, member A8 CT47A8 728049 ENSG00000230347 -chrX 120953281 120956599 Xq24 Xq24 300786 CT47A7 Cancer/testis antigen family 47, member A7 CT47A7 653282 ENSG00000228517 -chrX 120958164 120961587 Xq24 Xq24 300785 CT47A6 Cancer/testis antigen family 47, member A6 CT47A6 728062 ENSG00000226023 -chrX 120963025 120966445 Xq24 Xq24 300784 CT47A5 Cancer/testis antigen family 47, member A5 CT47A5 728072 ENSG00000237957 -chrX 120967885 120971305 Xq24 Xq24 300783 CT47A4 Cancer/testis antigen family 47, member A4 CT47A4 728075 ENSG00000230594 -chrX 120972745 120976165 Xq24 Xq24 300782 CT47A3 Cancer/testis antigen family 47, member A3 CT47A3 728082 ENSG00000236126 -chrX 120977605 120981025 Xq24 Xq24 300781 CT47A2 Cancer/testis antigen family 47, member A2 CT47A2 728090 ENSG00000242362 -chrX 120982475 120985885 Xq24 Xq24 300780 CT47A1 Cancer/testis antigen family 45, member A1 CT47A1 728096 ENSG00000236371 -chrX 121047609 121050093 Xq25 Xq24 300144 GLUD2 Glutamate dehydrogenase-2 GLUD2 2747 ENSG00000182890 {Parkinson disease, age of onset, modifier}, 168600 (3), Autosomal dominant, Multifactorial Glud1 (MGI:95753) -chrX 121800000 129500000 Xq25 300979 DUPXq25 Xq25 duplication syndrome Xq25 duplication syndrome, 300979 (4), X-linked -chrX 121800000 138900000 Xq25-q26 300436 MRX46 Mental retardation, X-linked 46 between DXS8072 and DXS294 Mental retardation, X-linked 46, 300436 (2), X-linked recessive -chrX 121800000 141200000 Xq25-q27.1 300703 SCAX5 Spinocerebellar ataxia, X-linked 5 100188768 between DXS1047 and DXS1227 Spinocerebellar ataxia, X-linked 5, 300703 (2), X-linked recessive -chrX 121800000 138900000 Xq25-q26 300179 SXI2 X inactivation, familial skewed, 2 117237 X inactivation, familial skewed, 2, 300179 (2) -chrX 121800000 131300000 Xq25-q26.1 313850 THAS, TAS Thoracoabdominal syndrome 7055 Thoracoabdominal syndrome, 313850 (2), X-linked -chrX 121800000 129500000 Xq25 300779 XECD Corneal dystrophy, endothelial, X-linked 100302510 between DXS8057 and DXS1047 Corneal dystrophy, endothelial, X-linked, 300779 (2), X-linked dominant -chrX 123184277 123490914 Xq25-q26 Xq25 305915 GRIA3, GLUR3, MRXSW Glutamate receptor, ionotropic, AMPA 3 GRIA3 2892 ENSG00000125675 Intellectual developmental disorder, X-linked, syndromic, Wu type, 300699 (3), X-linked recessive Gria3 (MGI:95810) -chrX 123600562 123733053 Xq25 Xq25 300395 THOC2, THO2, XLID12 THO complex 2 THOC2 57187 ENSG00000125676 Intellectual developmental disorder, X-linked 12, 300957 (3), X-linked recessive Thoc2l,Thoc2 (MGI:3040669,MGI:2442413) -chrX 123859707 123913971 Xq25 Xq25 300079 XIAP, BIRC4, API3, XLP2 Inhibitor of apoptosis, X-linked XIAP 331 ENSG00000101966 Lymphoproliferative syndrome, X-linked, 2, 300635 (3), X-linked recessive Xiap (MGI:107572) -chrX 123960559 124102655 Xq25 Xq25 300826 STAG2, SA2, MKMS, HPE13 Stromal antigen 2 STAG2 10735 ENSG00000101972 Holoprosencephaly 13, X-linked, 301043 (3), X-linked recessive, X-linked dominant; Mullegama-Klein-Martinez syndrome, 301022 (3), X-linked Stag2 (MGI:1098583) -chrX 124346562 124373159 Xq25 Xq25 300490 SH2D1A, LYP, IMD5, XLP, XLPD1 SH2 domain protein 1A SH2D1A 4068 ENSG00000183918 1cM from DXS42; no recombination with DXS37 Lymphoproliferative syndrome, X-linked, 1, 308240 (3), X-linked recessive Sh2d1a (MGI:1328352) -chrX 124375902 125204380 Xq25 Xq25 300588 TENM1, ODZ1, TNM1 Teneurin transmembrane protein 1 TENM1 10178 ENSG00000009694 Tenm1 (MGI:1345185) -chrX 128050961 128052402 Xq25 Xq25 300487 ACTRT1, ARPT1 Actin-related protein T1 ACTRT1 139741 ENSG00000123165 Actrt1 (MGI:1920610) -chrX 129446500 129523519 Xq26.1 Xq-q 300012 SMARCA1, SNF2L1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 SMARCA1 6594 ENSG00000102038 Smarca1 (MGI:1935127) -chrX 129540258 129592555 Xq26.1 Xq26.1 300535 OCRL, LOCR, OCRL1, NPHL2, DENT2 OCRL inositol polyphosphate-5-phosphatase OCRL 4952 ENSG00000122126 Dent disease 2, 300555 (3), X-linked recessive; Lowe syndrome, 309000 (3), X-linked recessive Ocrl (MGI:109589) -chrX 129645258 129654955 Xq25-q26.3 Xq26.1 300297 APLN Apelin APLN 8862 ENSG00000171388 Apln (MGI:1353624) -chrX 129738978 129769535 Xq25 Xq26.1 300145 XPNPEP2, AEACEI X-prolyl aminopeptidase 2 (aminopeptidase P) XPNPEP2 7512 ENSG00000122121 {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3) Xpnpep2 (MGI:2180001) -chrX 129779948 129795200 Xq26.1 Xq26.1 300441 SASH3, HACS2, CXorf9, SLY SAM and SH3 domain containing 3 SASH3 54440 ENSG00000122122 Sash3 (MGI:1921381) -chrX 129803287 129843885 Xq26.1 Xq26.1 300646 ZDHHC9, DHHC9, MRXSZ Zinc finger DHHC domain-containing protein 9 ZDHHC9 51114 ENSG00000188706 Mental retardation, X-linked syndromic, Raymond type, 300799 (3), X-linked Zdhhc9 (MGI:2444393) -chrX 129906130 129929751 Xq26.1 Xq26.1 300508 UTP14A UTP14 small subunit processome component UTP14A 10813 ENSG00000156697 Utp14b,Utp14a (MGI:2445092,MGI:1919804) -chrX 129980284 130058080 Xq25-q26.1 Xq26.1 300688 BCORL1, SHUVER BCL6 corepressor-like 1 BCORL1 63035 ENSG00000085185 Shukla-Vernon syndrome, 301029 (3), X-linked recessive Bcorl1 (MGI:2443910) -chrX 130063954 130110890 Xq26 Xq26.1 300775 ELF4, MEF E74-like factor 4 ELF4 2000 ENSG00000102034 Elf4 (MGI:1928377) -chrX 130129361 130165840 Xq26.1 Xq26.1 300169 AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5, SEMDHL Apoptosis-inducing factor, mitochondrion-associated, 1 AIFM1 9131 ENSG00000156709 Combined oxidative phosphorylation deficiency 6, 300816 (3), X-linked recessive; Cowchock syndrome, 310490 (3), X-linked recessive; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 (3), X-linked recessive; Deafness, X-linked 5, 300614 (3), X-linked recessive Aifm1 (MGI:1349419) -chrX 130110632 130184872 Chr.X Xq26.1 300333 RAB33A Ras-associated protein RAB33A RAB33A 9363 ENSG00000134594 Rab33a (MGI:109493) -chrX 130339891 130373359 Xq24 Xq26.1 300242 SLC25A14, BMCP1 Solute carrier family 25 (mitochondrial carrier), member 14 SLC25A14 9016 ENSG00000102078 Slc25a14 (MGI:1330823) -chrX 130379448 130385673 Xq26.1 Xq26.1 300513 GPR119, GPCR2 G protein-coupled receptor 119 GPR119 139760 ENSG00000147262 Gpr119 (MGI:2668412) -chrX 130622324 130903316 Xq25-q26.2 Xq26.1 300282 ENOX2 ECTO-NOX disulfide-thiol exchanger 2 ENOX2 10495 ENSG00000165675 Enox2 (MGI:2384799) -chrX 131058345 131089884 Xq26.1 Xq26.1 300937 ARHGAP36 Rho GTPase-activating protein 36 ARHGAP36 158763 ENSG00000147256 Arhgap36 (MGI:1922654) -chrX 131273505 131289456 Xq25 Xq26.1 300137 IGSF1, IGDC1, CHTE Immunoglobulin superfamily, member 1 IGSF1 3547 ENSG00000147255 Hypothyroidism, central, and testicular enlargement, 300888 (3), X-linked recessive Igsf1 (MGI:2147913) -chrX 131691524 131830642 Xq26.1 Xq26.2 300999 FIRRE, LINC01200 Functional intergenic repeating RNA element FIRRE 286467 ENSG00000213468 Firre (MGI:2147989) -chrX 132023301 132075942 Xq26 Xq26.2 300547 STK26, MASK, MST4 Serine/threonine kinase 26 STK26 51765 ENSG00000134602 Stk26 (MGI:1917665) -chrX 132074925 132128019 Xq26.2 Xq26.2 300628 FRMD7, NYS1, XIPAN FERM domain-containing 7 FRMD7 90167 ENSG00000165694 Nystagmus, infantile periodic alternating, X-linked, 310700 (3), X-linked; Nystagmus 1, congenital, X-linked, 310700 (3), X-linked Frmd7 (MGI:2686379) -chrX 132203024 132219470 Xq26.2 Xq26.2 301016 RAP2C Ras-related protein 2C RAP2C 57826 ENSG00000123728 Rap2c (MGI:1919315) -chrX 132369319 132490034 Xq26 Xq26.2 300413 MBNL3, MBXL Muscleblind-like protein 3 MBNL3 55796 ENSG00000076770 Mbnl3 (MGI:2444912) -chrX 132626011 132961369 Xq26.2 Xq26.2 300545 HS6ST2, MRXSPM Heparan sulfate 6-O-sulfotransferase 2 HS6ST2 90161 ENSG00000171004 mutation identified in 1 MRXSPM family ?Paganini-Miozzo syndrome, 301025 (3), X-linked recessive Hs6st2 (MGI:1354959) -chrX 133023167 133097108 Xq26.2 Xq26.2 300309 USP26 Ubiquitin-specific protease 26 USP26 83844 ENSG00000134588 Usp26 (MGI:1933247) -chrX 133216661 133218353 Xq26.2 Xq26.2 300772 TFDP3, HCA661, CT30, DP4 Transcription factor DP family, member 3 TFDP3 51270 ENSG00000183434 Tfdp1 (MGI:101934) -chrX 133300102 133415488 Xq26 Xq26.2 300168 GPC4, KPTS Glypican 4 GPC4 2239 ENSG00000076716 centromeric to GPC3 Keipert syndrome, 301026 (3), X-linked recessive Gpc4 (MGI:104902) -chrX 133535744 133985615 Xq26 Xq26.2 300037 GPC3, SDYS, SGBS1 Glypican 3 GPC3 2719 ENSG00000147257 Wilms tumor, somatic, 194070 (3); Simpson-Golabi-Behmel syndrome, type 1, 312870 (3), X-linked recessive Gpc3 (MGI:104903) -chrX 134169670 134169765 Xq26.2 Xq26.2 300722 MIR19B2, MIRN19B2 Micro RNA 19B2 MIR19B2 406981 ENSG00000284107 Mir19b-2 (MGI:2676868) -chrX 134169808 134169876 Xq26.2 Xq26.2 300950 MIR20B Micro RNA 20B MIR20B 574032 ENSG00000284043 Mir20b (MGI:3618748) -chrX 134170197 134170277 Xq26.2 Xq26.2 300792 MIR106A, MIRN106A Micro RNA 106A MIR106A 406899 ENSG00000284157 Mir106a (MGI:3619120) -chrX 134373311 134428789 Xq26.3 Xq26.2 300414 PHF6, BFLS PHD finger protein 6 PHF6 84295 ENSG00000156531 Borjeson-Forssman-Lehmann syndrome, 301900 (3), X-linked recessive Phf6 (MGI:1918248) -chrX 134460164 134500667 Xq26.2 Xq26.2-q26.3 308000 HPRT1, HPRT Hypoxanthine phosphoribosyltransferase 1 HPRT1 3251 ENSG00000165704 Hyperuricemia, HRPT-related, 300323 (3), X-linked recessive; Lesch-Nyhan syndrome, 300322 (3), X-linked recessive Hprt (MGI:96217) -chrX 134500000 148000000 Xq26-q27 300712 CFSS Craniofacioskeletal syndrome 100188773 ?Craniofacioskeletal syndrome, 300712 (2), X-linked recessive, X-linked dominant -chrX 134500000 138900000 Xq26 302802 CMTX3 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 genomic rearrangement between 8q24.3 and Xq27.1 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, 302802 (4), X-linked recessive -chrX 134500000 138900000 Xq26.3 300795 CT45A4, CT45.4 Cancer/testis antigen family 45, member A4 -chrX 134500000 138900000 Xq26.3 300942 CXDUPq26.3, DUPXq26.3, XLAG Chromosome Xq26.3 duplication syndrome Chromosome Xq26.3 duplication syndrome, 300942 (4), X-linked dominant -chrX 134500000 138900000 Xq26 309555 GUST Gustavson mental retardation syndrome (with microcephaly, optic atrophy, deafness) 8258 Gustavson syndrome, 309555 (2), X-linked -chrX 134500000 156040895 Xq26-qter 300076 INDX Immunoneurologic syndrome X-linked, of Woods, Black, and Norbury 8259 Woods-Black-Norbury syndrome, 300076 (2), X-linked dominant -chrX 134500000 138900000 Xq26 300372 MRX42 Mental retardation, X-linked nonspecific, 42 4406 ?pericentromeric region Mental retardation, X-linked 42, 300372 (2) -chrX 134500000 148000000 Xq26-q27 300155 RP24 Retinitis pigmentosa-24 6116 Retinitis pigmentosa 24, 300155 (2) -chrX 134500000 138900000 Xq26 313350 SHFM2, SHFD2 Split hand/foot malformation, type (ectrodactyly) 2 6463 Split hand/foot malformation 2, 313350 (2), X-linked -chrX 134500000 138900000 Xq26.3 300833 SRXX3 46XX sex reversal 3 due to deletion/duplication/rearrangement upstream of SOX3 46XX sex reversal 3, 300833 (4), X-linked dominant -chrX 134546327 134546397 Xq26.3 Xq26.3 300865 MIR503 Micro RNA 503 MIR503 574506 ENSG00000208005 Mir503 (MGI:3619428) -chrX 134546613 134546710 Xq26.3 Xq26.3 300682 MIR424, MIRN424, MIR322 Micro RNA 424 MIR424 494336 ENSG00000284231 Mir322 (MGI:3619333) -chrX 134565837 134764321 Xq26 Xq26.3 300296 PLAC1 Placenta-specific gene 1 PLAC1 10761 ENSG00000170965 Plac1 (MGI:1926287) -chrX 134887625 134915313 Xq26.3 Xq26.3 300674 MOSPD1 Motile sperm domain-containing protein 1 MOSPD1 56180 ENSG00000101928 Mospd1 (MGI:1917630) -chrX 135032354 135033545 Xq26 Xq26.3 300213 CXX1 CAAX box protein 1 RTL8C 8933 ENSG00000134590 -chrX 135248588 135344628 Xq26 Xq26.3 314997 ZNF75D, ZNF75 Zinc finger protein-75D ZNF75D 7626 ENSG00000186376 1Mb distal to HPRT -chrX 135344769 135363412 Xq26.3 Xq26.3 300627 ZNF449, ZSCAN19 Zinc finger protein 449 ZNF449 203523 ENSG00000173275 Zfp449 (MGI:1925869) -chrX 135708397 135723317 Xq26.3 Xq26.3 300648 CT45A1, CT45 Cancer/testis antigen family 45, member A1 CT45A1 541466 ENSG00000268940 Gm648 (MGI:2685494) -chrX 135760043 135768190 Xq26.3 Xq26.3 300794 CT45A3, CT45.3 Cancer/testis antigen family 45, member A3 CT45A3 441519 ENSG00000269096 Gm648 (MGI:2685494) -chrX 135775851 135785513 Xq26.3 Xq26.3 300796 CT45A5, CT45.5 Cancer/testis antigen family 45, member A5 CT45A5 441521 ENSG00000228836 -chrX 135794684 135802786 Xq26.3 Xq26.3 300797 CT45A6, CT45.6 Cancer/testis antigen family 45, member A6 CT45A6 541465 ENSG00000278289 Gm648 (MGI:2685494) -chrX 135811667 135820061 Xq26.3 Xq26.3 300793 CT45A2, CT45.2 Cancer/testis antigen family 45, member A2 CT45A2 728911 ENSG00000271449 Gm648 (MGI:2685494) -chrX 135893699 135913061 Xq28 Xq26.3 300359 SAGE Sarcoma antigen SAGE1 55511 ENSG00000181433 -chrX 135974595 136047268 Xq26.3 Xq26.3 300231 SLC9A6, NHE6, MRXSCH Solute carrier family 9 (sodium/hydrogen exchanger), member 6 SLC9A6 10479 ENSG00000198689 Intellectual developmental disorder, X-linked syndromic, Christianson type, 300243 (3), X-linked Slc9a6 (MGI:2443511) -chrX 136146701 136211358 Xq27.2 Xq26.3 300163 FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B, FCMSU Four-and-a-half LIM domains 1 FHL1 2273 ENSG00000022267 mutation identified in 1 FCMSU family Myopathy, X-linked, with postural muscle atrophy, 300696 (3), X-linked recessive; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3), X-linked recessive; ?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3), X-linked recessive; Scapuloperoneal myopathy, X-linked dominant, 300695 (3), X-linked dominant; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3), X-linked; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3), X-linked dominant Fhl1,Fhl4 (MGI:1338765,MGI:1298387) -chrX 136213219 136256481 Xq26.3 Xq26.3 300930 MAP7D3, MDP3 MAP7 domain-containing protein 3 MAP7D3 79649 ENSG00000129680 Map7d3 (MGI:2445051) -chrX 136487946 136493779 Xq26-q28 Xq26.3 300107 BRS3 Bombesin-like receptor 3 BRS3 680 ENSG00000102239 Brs3 (MGI:1100501) -chrX 136497226 136512345 Xq26.3 Xq26.3 300346 HTATSF1, TATSF1 HIV-1 TAT stimulatory factor 1 HTATSF1 27336 ENSG00000102241 Htatsf1 (MGI:1919709) -chrX 136532214 136556798 Xq26.1-q27.2 Xq26.3 300583 VGLL1, VGL1, TDU Vestigial-like 1 VGLL1 51442 ENSG00000102243 Vgll1 (MGI:2655768) -chrX 136648157 136660389 Xq26 Xq26.3 300386 TNFSF5, CD40LG, HIGM1, IGM Tumor necrosis factor ligand superfamily, member 5 CD40LG 959 ENSG00000102245 Between DSX144E and DSX300 Immunodeficiency, X-linked, with hyper-IgM, 308230 (3), X-linked recessive Cd40lg (MGI:88337) -chrX 136665546 136780944 Xq26 Xq26.3 300267 ARHGEF6, COOL2 Rho guanine nucleotide exchange factor-6 ARHGEF6 9459 ENSG00000129675 Arhgef6 (MGI:1920591) -chrX 136869191 136880724 Xq26 Xq26.3 300199 RBMX, MRXS11 RNA-binding motif protein, X chromosome RBMX 27316 ENSG00000147274 mutation identified in 1 MRXS11 family ?Intellectual developmental disorder, syndromic 11, Shashi type, 300238 (3), X-linked recessive Rbmx (MGI:1343044) -chrX 137023928 137033994 Xq26.3 Xq26.3 300393 GPR101, PAGH2, PITA2 G protein-coupled receptor 101 GPR101 83550 ENSG00000165370 Pituitary adenoma 2, GH-secreting, 300943 (3), X-linked Gpr101 (MGI:2685211) -chrX 137566126 137577690 Xq26.2 Xq26.3 300265 ZIC3, HTX1, HTX, VACTERLX Zic family, member 3 ZIC3 7547 ENSG00000156925 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3), X-linked recessive; Heterotaxy, visceral, 1, X-linked, 306955 (3), X-linked recessive; VACTERL association, X-linked, 314390 (3), X-linked recessive Zic3 (MGI:106676) -chrX 138614726 139222888 Xq26.3 Xq26.3-q27.1 300070 FGF13, FGF2, DEE90 Fibroblast growth factor-13 FGF13 2258 ENSG00000129682 Developmental and epileptic encephalopathy 90, 301058 (3), X-linked recessive, X-linked dominant Fgf13 (MGI:109178) -chrX 138900000 141200000 Xq27.1 300898 CDR1AS, CIRS7 CD$1 antisense RNA CDR1-AS 103611090 -chrX 138900000 141200000 Xq27.1 307700 HPT, HPTX, HYPX Hypoparathyroidism interstitial deletion/insertion on Xq27.1 Hypoparathyroidism, X-linked, 307700 (4), X-linked -chrX 138900000 141200000 Xq27.1 307150 HTC2, HCG, CGH, CXINSq27.1 Hypertrichosis, congenital generalized palindrome-mediated interchromosomal insertion at Xq27.1 Hypertrichosis, congenital generalized, 307150 (4), X-linked dominant -chrX 139530719 139563458 Xq27.1-q27.2 Xq27.1 300746 F9, HEMB, THPH8 Coagulation factor IX (plasma thromboplastic component) F9 2158 ENSG00000101981 distal to HPRT; proximal part of Xq27 Thrombophilia, X-linked, due to factor IX defect, 300807 (3), X-linked recessive; {Deep venous thrombosis, protection against}, 300807 (3), X-linked recessive; Hemophilia B, 306900 (3), X-linked recessive; {Warfarin sensitivity}, 301052 (3), X-linked F9 (MGI:88384) -chrX 139581767 139708278 Xq27 Xq27.1 311030 MCF2, DBL Oncogene MCF2 (oncogene DBL) MCF2 4168 ENSG00000101977 ~60kb telomeric to F9; 5' replacement by chr.15 segment Mcf2 (MGI:96932) -chrX 139726345 139933082 Xq27 Xq27.1 300516 ATP11C, ATPIQ, ATPIG, HACXL ATPase, class VI, type 11C ATP11C 286410 ENSG00000101974 mutation identified in 1 HACXL patient ?Hemolytic anemia, congenital, X-linked, 301015 (3), X-linked recessive Atp11c (MGI:1859661) -chrX 139924147 139924230 Xq27.1 Xq27.1 301053 MIR505 Micro RNA 505 MIR505 574508 ENSG00000207633 Mir505 (MGI:3629955) -chrX 140502984 140505068 Xq26.3 Xq27.1 313430 SOX3, MRGH SRY (sex determining region Y)-box 3 SOX3 6658 ENSG00000134595 P mutant in BFLS Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency, 300123 (3); Panhypopituitarism, X-linked, 312000 (3), X-linked Sox3 (MGI:98365) -chrX 140783259 140784557 Xq27.1-q27.2 Xq27.1 302650 CDR1, CDR62A Cerebellar degeneration-related protein-1, 34kD CDR1 1038 between HPRT and F9 Cdr1 (MGI:88359) -chrX 141002593 141003705 Xq27.1-q27.3 Xq27.1 300669 SPANXB1, SPANXB SPANX family, member B1 SPANXB1 728695 ENSG00000227234 -chrX 141173234 141177128 Xq27 Xq27.1 300402 LDOC1 Leucine zipper downregulated in cancer 1 LDOC1 23641 ENSG00000182195 Ldoc1 (MGI:2685212) -chrX 141200000 156040895 Xq27.2-q28 300388 BPP, PMGX, CBPS Polymicrogyria, bilateral perisylvian possible genetic heterogeneity Polymicrogyria, bilateral perisylvian, 300388 (2), X-linked dominant -chrX 141241462 141242516 Xq26.3-q27.1 Xq27.2 300330 SPANXC, CTP11 Sperm protein associated with the nucleus, X chromosome, family member C SPANXC 64663 ENSG00000198573 -chrX 141583673 141584737 Xq27.1 Xq27.2 300305 SPANXA1, SPANX Sperm protein associated with the nucleus, X chromosome, family member A1 SPANXA1 30014 ENSG00000198021 -chrX 141589707 141590761 Xq27.2 Xq27.2 300493 SPANXA2 Sperm protein associated with the nucleus, X chromosome, family member A2 SPANXA2 728712 ENSG00000203926 -chrX 141697410 141698738 Xq27.1 Xq27.2 300670 SPANXD SPANX family, member D SPANXD 64648 ENSG00000196406 -chrX 141838315 141898141 Xq27 Xq27.2 300469 MAGEC3 Melanoma antigen, family C, 3 MAGEC3 139081 ENSG00000165509 -chrX 141903876 141909400 Xq26 Xq27.2 300223 MAGEC1 Melanoma antigen, family C, 1 MAGEC1 9947 ENSG00000155495 -chrX 142202341 142205289 Xq27 Xq27.2 300468 MAGEC2, MAGEE1, CT10, HCA587 Melanoma antigen, family C, 2 MAGEC2 51438 ENSG00000046774 -chrX 143000000 148000000 Xq27 300536 BMND4 Bone mineral density QTL 4 554316 [Bone mineral density QTL 4], 300536 (2) -chrX 143000000 148000000 Xq27 300085 COD2 Cone dystrophy-2, X-linked 1275 Cone dystrophy, progressive X-linked, 2, 300085 (2), X-linked -chrX 143000000 156040895 Xq27.3-q28 300869 DUPXq27.3q28, CXDUPq27.3q28 Chromosome Xq27.3-q28 duplication syndrome Chromosome Xq27.3-q28 duplication syndrome, 300869 (4), X-linked recessive -chrX 143000000 148000000 Xq27.3 300509 DYX9 Dyslexia, susceptibility to, 9 474159 max lod at DXS8043 {Dyslexia, susceptibility to, 9}, 300509 (2) -chrX 143000000 156040895 Xq27.3-qter 302000 EBM Epidermolysis bullosa, macular type 1881 -chrX 143000000 156040895 Xq27-q28 300147 HPCX1 Prostate cancer, hereditary, X-linked 1 9566 between D3S2390 and bG82i1.0 {Prostate cancer, hereditary, X-linked 1}, 300147 (2) -chrX 143000000 148000000 Xq27 300228 TGCT1 Testicular germ cell tumor 1 50830 Testicular germ cell tumor, 300228 (2) -chrX 143025927 143038636 Xq27 Xq27.3 300667 SPANXN4 SPANX family, member N4 SPANXN4 441525 ENSG00000189326 -chrX 143508734 143517474 Xq27 Xq27.3 300666 SPANXN3 SPANX family, member N3 SPANXN3 139067 ENSG00000189252 -chrX 143622789 143636100 Xq27 Xq27.3 300562 SLITRK4 SLIT- and NTRK-like family, member 4 SLITRK4 139065 ENSG00000179542 Slitrk4 (MGI:2442509) -chrX 143712034 143720667 Xq27 Xq27.3 300665 SPANXN2 SPANX family, member N2 SPANXN2 494119 ENSG00000268988 -chrX 145247502 145256207 Xq27 Xq27.3 300664 SPANXN1 SPANX family, member N1 SPANXN1 494118 ENSG00000203923 -chrX 145817828 145829855 Xq27 Xq27.3 300561 SLITRK2, KIAA1854, CXorf1, CXorf2 SLIT- and NTRK-like family, member 2 SLITRK2 84631 ENSG00000185985 Slitrk2 (MGI:2679449) -chrX 147230719 147230842 Xq27.3 Xq27.3 300877 MIR506 Micro RNA 506 MIR506 574511 ENSG00000207731 -chrX 147236912 147237026 Xq27.3 Xq27.3 300874 MIR508 Micro RNA 508 MIR508 574513 ENSG00000207589 -chrX 147259651 147259725 Xq27.3 Xq27.3 300876 MIR509-3 Micro RNA 509-3 MIR509-3 100126337 ENSG00000212014 -chrX 147260531 147260624 Xq27.3 Xq27.3 300875 MIR509-1 Micro RNA 509-2 MIR509-1 574514 ENSG00000208000 -chrX 147272334 147272407 Xq27.3 Xq27.3 300866 MIR510 Micro RNA 510 MIR510 574515 ENSG00000207641 -chrX 147909430 147911816 Xq27 Xq27.3 300805 FMR1AS1, ASFMR1 FMR1 antisense RNA 1 FMR1-AS1 100126270 ENSG00000268066 -chrX 147911918 147951124 Xq27.3 Xq27.3 309550 FMR1, FRAXA, POF1 FMRP translational regulator 1 FMR1 2332 ENSG00000102081 8-8.7Mb from telomere Fragile X tremor/ataxia syndrome, 300623 (3), X-linked dominant; Fragile X syndrome, 300624 (3), X-linked dominant; Premature ovarian failure 1, 311360 (3), X-linked Fmr1 (MGI:95564) -chrX 148000000 156040895 Xq28 300843 BED Bornholm eye disease 100653365 linked to F8 Bornholm eye disease, 300843 (2), X-linked recessive -chrX 148000000 156040895 Xq28 300815 DUPXq28, CXq28 Chromosome Xq28 duplication syndrome Chromosome Xq28 duplication syndrome, 300815 (4) -chrX 148000000 156040895 Xq28 305424 DXS522E, F8B DNA segment, single copy, expressed probes, intron 22 probe, F8B -chrX 148000000 156040895 Xq28 306995 HMS1, GAY1 Homosexuality, male [?Homosexuality, male], 306995 (2), X-linked -chrX 148000000 156040895 Xq28 309200 MAFD2, MDX Major affective disorder 2 4096 linkage to G6PD,CB in non-Ashkenazi Jews {?Major affective disorder 2}, 309200 (2), X-linked dominant -chrX 148000000 156040895 Xq28 309620 MRSD, CHRS Mental retardation-skeletal dysplasia 4364 Mental retardation-skeletal dysplasia, 309620 (2), X-linked -chrX 148000000 156040895 Xq28 300261 MRXSA Armfield X-linked mental retardation syndrome Mental retardation syndrome, X-linked, Armfield type, 300261 (2), X-linked recessive -chrX 148000000 156040895 Xq28 300845 MYMY4, CXDELq38 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism and facial dysmorphism contiguous gene deletion syndrome (3.4kb) Moyamoya disease 4, 300845 (4), X-linked recessive -chrX 148000000 156040895 Xq28 310460 MYP1 Myopia 1, X-linked 4657 Myopia-1, 310460 (2), X-linked recessive -chrX 148000000 156040895 Xq28 300605 RP34 Retinitis pigmentosa 34 777642 Retinitis pigmentosa 34, 300605 (2) -chrX 148000000 156040895 Xq28 300809 SLEB15 Systemic lupus erythematosus, susceptibility to, 15 100379200 associated with rs17435 {Systemic lupus erythematosus, susceptibility to, 15}, 300809 (2) -chrX 148000000 156040895 Xq28 314300 TKCR, TKC Torticollis, keloids, cryptorchidism and renal dysplasia 7085 distal to G6PD Goeminne TKCR syndrome, 314300 (2), X-linked -chrX 148000000 156040895 Xq28 314900 XM Xm 7506 linked to DCB, PCB -chrX 148500616 149000662 Xq28 Xq28 300806 AFF2, FMR2, FRAXE, XLID109 AF4/FMR2 family, member 2 (fragile site, X-linked, E) AFF2 2334 ENSG00000155966 Intellectual developmental disorder, X-linked 109, 309548 (3), X-linked recessive Aff2 (MGI:1202294) -chrX 149476987 149505305 Xq28 Xq28 300823 IDS, MPS2, SIDS Iduronate 2-sulfatase (Hunter syndrome) IDS 3423 ENSG00000010404 telomeric IDS2 source of inversion in IDS Mucopolysaccharidosis II, 309900 (3), X-linked recessive Ids (MGI:96417) -chrX 149540600 149555344 Xq27 Xq28 300954 EOLA1, CXorf40A Endothelium- and lymphocyte-associated ASCH domain 1 EOLA1 91966 ENSG00000197620 Eola1 (MGI:1915868) -chrX 149581652 149587467 Xq28 Xq28 300764 MAGEA9B Melanoma antigen, family A, 9B MAGEA9B 728269 ENSG00000267978 -chrX 149596555 149631791 Xq28 Xq28 300031 FAM11A, FRAXF Family with sequence similarity 11, member A TMEM185A 84548 ENSG00000269556 Tmem185a (MGI:2448555) -chrX 149688192 149717267 Xq28 Xq28 300344 MAGEA11, MAGE11 Melanoma antigen, family A, 11 MAGEA11 4110 ENSG00000185247 Magea13,Magea10 (MGI:3588211,MGI:1922602) -chrX 149781875 149787736 Xq28 Xq28 300342 MAGEA9, MAGE9 Melanoma antigen, family A, 9 MAGEA9 4108 ENSG00000123584 -chrX 149825707 149879798 Xq28 Xq28 300892 LINC00850, KUCG1 Long intergenic noncoding RNA 850 LINC00850 101241891 ENSG00000280752 -chrX 149881182 149885834 Xq28 Xq28 300341 MAGEA8, MAGE8 Melanoma antigen, family A, 8 MAGEA8 4107 ENSG00000156009 Magea10 (MGI:3588211) -chrX 150361563 150514177 Xq28 Xq28 300120 MAMLD1, CXorf6, F18, HYSP2 Mastermind-like domain containing 1 MAMLD1 10046 ENSG00000013619 near MTM1 in microdeletion Hypospadias 2, X-linked, 300758 (3), X-linked recessive Mamld1 (MGI:3045303) -chrX 150562657 150673142 Xq28 Xq28 300415 MTM1, MTMX Myotubularin MTM1 4534 ENSG00000171100 close to F8 Myotubular myopathy, X-linked, 310400 (3), X-linked recessive Mtm1 (MGI:1099452) -chrX 150692961 150765107 Xq28 Xq28 300171 MTMR1 Myotubularin-related protein-1 MTMR1 8776 ENSG00000063601 Mtmr1 (MGI:1858271) -chrX 150766335 150898716 Xq28 Xq28 300846 CD99L2, CD99B CD99 antigen-like 2 CD99L2 83692 ENSG00000102181 Cd99l2 (MGI:2177151) -chrX 150980506 150990772 Xq28 Xq28 300193 HMGB3, HMG4, HMG2A, MCOPS13 High-mobility group box 3 (high mobility group protein 4) HMGB3 3149 ENSG00000029993 mutation identified in 1 MCOPS13 family ?Microphthalmia, syndromic 13, 300915 (3), X-linked Hmgb3 (MGI:1098219) -chrX 151176583 151182854 Xq28 Xq28 300207 GPR50 G protein-coupled receptor 50 GPR50 9248 ENSG00000102195 Gpr50 (MGI:1333877) -chrX 151396594 151409363 Xq28 Xq28 300913 VMA21, XMEA Vma21, S. cerevisiae, homolog of VMA21 203547 ENSG00000160131 Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive Vma21 (MGI:1914298) -chrX 151563183 151676738 Xq28 Xq28 300993 PASD1, CT64, OXTES1 PAS domain-containing repressor 1 PASD1 139135 ENSG00000166049 -chrX 151694605 151705923 Xq28 Xq28 300685 PRRG3, PRGP3, TMG3 Proline-rich gamma-carboxyglutamic acid protein 3 PRRG3 79057 ENSG00000130032 Prrg3 (MGI:2685214) -chrX 151716034 151723193 Xq28 Xq28 300450 FATE1 Fetal and adult testis-expressed gene 1 FATE1 89885 ENSG00000147378 Fate1 (MGI:1925155) -chrX 151734745 151745563 Xq27 Xq28 300338 CNGA2, CNG2, OCNC1 Cyclic nucleotide-gated channel, alpha-2 CNGA2 1260 ENSG00000183862 Cnga2 (MGI:108040) -chrX 151912473 151925169 Xq28 Xq28 300175 MAGEA4, MAGE4A, MAGE4B Melanoma antigen, family A, 4 MAGEA4 4103 ENSG00000147381 Magea10 (MGI:3588211) -chrX 151953123 151974691 Xq28 Xq28 300093 GABRE Gamma-aminobutyric acid (GABA) A receptor, epsilon GABRE 2564 ENSG00000102287 Gabre (MGI:1330235) -chrX 151958577 151958657 Xq28 Xq28 300769 MIR224, MIRN224 Micro RNA 224 MIR224 407009 ENSG00000284363 Mir224 (MGI:3619129) -chrX 152114048 152117938 Xq28 Xq28 300340 MAGEA5, MAGE5 Melanoma antigen, family A, 5 MAGEA5P 4104 -chrX 152133309 152138576 Xq28 Xq28 300343 MAGEA10, MAGE10 Melanoma antigen, family A, 10 MAGEA10 4109 ENSG00000124260 Magea14,Magea8,Magea9,Magea3,Magea4,Magea5,Magea6,Magea1,Magea10,Magea2 (MGI:1333837,MGI:1333834,MGI:1917946,MGI:1333832,MGI:1921529,MGI:3588211,MGI:1333793,MGI:1333839,MGI:1333838,MGI:1333827) -chrX 152166233 152451340 Xq28 Xq28 305660 GABRA3 Gamma-aminobutyric acid (GABA) A receptor, alpha-3 GABRA3 2556 ENSG00000011677 4Mb from telomere Gabra3 (MGI:95615) -chrX 152392218 152392298 Xq28 Xq28 300811 MIR105-1, MIRN105-1 Micro RNA 105-1 MIR105-1 406897 ENSG00000207957 Mir105 (MGI:3718453) -chrX 152394411 152394491 Xq28 Xq28 300812 MIR105-2, MIRN105-2 Micro RNA 105-2 MIR105-2 406898 ENSG00000207818 Mir105 (MGI:3718453) -chrX 152637894 152659827 Xq28 Xq28 300349 GABRQ Gamma-aminobutyric acid receptor, theta GABRQ 55879 ENSG00000268089 Gabrq (MGI:1888498) -chrX 152698741 152702346 Xq28 Xq28 300174 MAGEA3, MAGE3 Melanoma antigen, family A, 3 MAGEA3 4102 ENSG00000221867 Magea10 (MGI:3588211) -chrX 152714585 152718606 Xq28 Xq28 300549 MAGEA2B Melanoma antigen, family A, 2B MAGEA2B 266740 ENSG00000183305 -chrX 152727483 152733720 Xq28 Xq28 300944 CSAG1, CSAGE CSAG family, member 1 ` CSAG1 158511 ENSG00000198930 -chrX 152733756 152737668 Xq28 Xq28 300177 MAGEA12, MAGE12 Melanoma antigen, family A, 12 MAGEA12 4111 ENSG00000213401 Magea10 (MGI:3588211) -chrX 152749862 152753883 Xq28 Xq28 300173 MAGEA2, MAGE2 Melanoma antigen, family A, 2 MAGEA2 4101 ENSG00000268606 -chrX 152766135 152769688 Xq28 Xq28 300176 MAGEA6, MAGE6 Melanoma antigen, family A, 6 MAGEA6 4105 ENSG00000197172 Magea10 (MGI:3588211) -chrX 152826993 152830756 Xq28 Xq28 300006 CETN2, CALT Centrin, EF-hand protein, 2 (caltractin) CETN2 1069 ENSG00000147400 Cetn2 (MGI:1347085) -chrX 152831000 152869728 Xq28 Xq28 300275 NSDHL NAD(P)H steroid dehydrogenase-like protein NSDHL 50814 ENSG00000147383 CK syndrome, 300831 (3), X-linked recessive; CHILD syndrome, 308050 (3), X-linked dominant Nsdhl (MGI:1099438) -chrX 152898066 152973480 Xq28 Xq28 300381 ZNF185 Zinc finger protein 185 ZNF185 7739 ENSG00000147394 Zfp185 (MGI:108095) -chrX 152988823 152994457 Xq28 Xq28 300916 PNMA5, KIAA1934 Paraneoplastic MA antigen family, member 5 PNMA5 114824 ENSG00000198883 Pnma5 (MGI:2180566) -chrX 153056469 153060461 Xq28 Xq28 300675 PNMA3, MA3 Paraneoplastic MA antigen 3 PNMA3 29944 ENSG00000183837 Pnma3 (MGI:2180565) -chrX 153072453 153075018 Xq28 Xq28 300917 PNMA6A, PNMA6 Paraneoplastic MA antigen family, member 6A PNMA6A 84968 ENSG00000235961 -chrX 153179283 153183879 Xq28 Xq28 300016 MAGE1 Melanoma antigen 1 (directs expression of antigen MZ2-E) MAGEA1 4100 ENSG00000198681 cluster of 12 genes Magea10 (MGI:3588211) -chrX 153444472 153446055 Xq28 Xq28 300370 TREX2 3-prime repair exonuclease 2 TREX2 11219 ENSG00000183479 Trex2 (MGI:1346343) -chrX 153447667 153495464 Xq28 Xq28 300540 HAUS7, UCHL5IP, UIP1 HAUS augmin-like complex, subunit 7 HAUS7 55559 ENSG00000213397 Haus7 (MGI:1920988) -chrX 153494979 153509545 Xq28 Xq28 301870 BGN, SEMDX, MRLS Biglycan BGN 633 ENSG00000182492 proximal Xq28 Meester-Loeys syndrome, 300989 (3), X-linked; Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3), X-linked recessive Bgn (MGI:88158) -chrX 153517641 153582928 Xq28 Xq28 300014 ATP2B3, PMCA3, SCAX1 ATPase, Ca++ transporting, plasma membrane, 3 ATP2B3 492 ENSG00000067842 mutation identified in 1 family ?Spinocerebellar ataxia, X-linked 1, 302500 (3), X-linked recessive Atp2b3 (MGI:1347353) -chrX 153587924 153599164 Xq28 Xq28 300708 FAM58A, STAR Family with sequence similarity 58, member A CCNQ 92002 ENSG00000262919 STAR syndrome, 300707 (3), X-linked dominant Ccnq (MGI:1916359) -chrX 153642440 153651325 Xq28 Xq28 300134 DUSP9, MKP4 Dual-specificity phosphatase 9 DUSP9 1852 ENSG00000130829 Dusp9 (MGI:2387107) -chrX 153669722 153687770 Xq28 Xq28 300680 PNCK, CAMK1B, BSTK3 Pregnancy-upregulated, nonubiquitous, CAM kinase PNCK 139728 ENSG00000130822 Pnck (MGI:1347357) -chrX 153687925 153696592 Xq28 Xq28 300036 SLC6A8, CRTR, CCDS1 Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 SLC6A8 6535 ENSG00000130821 distal to G6PD Cerebral creatine deficiency syndrome 1, 300352 (3), X-linked recessive Slc6a8 (MGI:2147834) -chrX 153700491 153724745 Xq28 Xq28 300398 BCAP31, BAP31, DXS1357E, DDCH B-cell receptor-associated protein 31 BCAP31 10134 ENSG00000185825 Deafness, dystonia, and cerebral hypomyelination, 300475 (3), X-linked recessive Bcap31 (MGI:1350933) -chrX 153724850 153744754 Xq28 Xq28 300371 ABCD1, ALD, AMN ATP-binding cassette, subfamily D, member 1 ABCD1 215 ENSG00000101986 about 650kb from GCP/RCP Adrenoleukodystrophy, 300100 (3), X-linked recessive; Adrenomyeloneuropathy, adult, 300100 (3), X-linked recessive Abcd1 (MGI:1349215) -chrX 153764248 153779340 Xq28 Xq28 300214 PLXNB3, PLXN6 Plexin B3 PLXNB3 5365 ENSG00000198753 Plxnb3 (MGI:2154240) -chrX 153781040 153785729 Xq28 Xq28 301002 SRPK3, STK23, MSSK1 SRSF protein kinase 3 SRPK3 26576 ENSG00000184343 Srpk3 (MGI:1891338) -chrX 153785767 153794374 Xq28 Xq28 300089 IDH3G Isocitrate dehydrogenase 3 (NAD+), gamma IDH3G 3421 ENSG00000067829 Idh3g (MGI:1099463) -chrX 153794158 153798511 Xq28 Xq28 300090 SSR4, TRAPD, CDG1Y Signal sequence receptor, delta SSR4 6748 ENSG00000180879 Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive Ssr4 (MGI:1099464) -chrX 153802165 153830543 Xq28 Xq28 300634 PDZD4, PDZK4, PDZRN4L, KIAA1444, LU1 PDZ domain-containing 4 PDZD4 57595 ENSG00000067840 Pdzd4 (MGI:2443483) -chrX 153861513 153886172 Xq28 Xq28 308840 L1CAM, CAML1, HSAS1, MASA, SPG1 L1 cell adhesion molecule L1CAM 3897 ENSG00000198910 between RCP/GCP cluster and G6PD MASA syndrome, 303350 (3), X-linked recessive; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3), X-linked recessive; Corpus callosum, partial agenesis of, 304100 (3), X-linked recessive; CRASH syndrome, 303350 (3), X-linked recessive; Hydrocephalus with Hirschsprung disease, 307000 (3), X-linked recessive; Hydrocephalus due to aqueductal stenosis, 307000 (3), X-linked recessive L1cam (MGI:96721) -chrX 153902624 153907165 Xq28 Xq28 300538 AVPR2, DIR, DI1, ADHR, NDI1 Arginine vasopressin receptor-2 AVPR2 554 ENSG00000126895 Diabetes insipidus, nephrogenic, 1, 304800 (3), X-linked recessive; Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3), X-linked recessive Avpr2 (MGI:88123) -chrX 153907377 153926263 Xq28 Xq28 300023 RGC1 Rho-GAP hematopoietic protein C1 ARHGAP4 393 ENSG00000089820 Arhgap4 (MGI:2159577) -chrX 153929224 153935036 Xq28 Xq28 300013 NAA10, ARD1A, ARD1, TE2, NATD, OGDNS, MCOPS1 N-alpha-acetyltransferase 10, NatA catalytic subunit NAA10 8260 ENSG00000102030 Microphthalmia, syndromic 1, 309800 (3), X-linked; Ogden syndrome, 300855 (3), X-linked recessive, X-linked dominant Naa10 (MGI:1915255) -chrX 153935262 153944642 Xq28 Xq28 312420 RENBP Renin-binding protein RENBP 5973 ENSG00000102032 Renbp (MGI:105940) -chrX 153947555 153972359 Xq28 Xq28 300019 HCFC1, HCF1, MRX3 Host cell factor C1 (VP16-accessory protein) HCFC1 3054 ENSG00000172534 50kb distal to V2R Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3), X-linked recessive Hcfc1 (MGI:105942) -chrX 153972753 153983193 Xq28 Xq28 300059 TMEM187, CXorf12, DXS9878E, ITBA1 gene Transmembrane protein 187 TMEM187 8269 ENSG00000177854 -chrX 154010506 154019983 Xq28 Xq28 300283 IRAK1 Interleukin 1 receptor-associated kinase 1 IRAK1 3654 ENSG00000184216 Irak1 (MGI:107420) -chrX 154019919 154019988 Xq28 Xq28 300929 MIR718 Micro RNA 718 MIR718 100313781 ENSG00000284286 Mir718 (MGI:3629956) -chrX 154021572 154097716 Xq28 Xq28 300005 MECP2, RTT, PPMX, AUTSX3, MRXSL, MRXS13 Methyl-CpG-binding protein-2 MECP2 4204 ENSG00000169057 70kb centromeric of RCP/GCP Intellectual developmental disorder, X-linked, syndromic 13, 300055 (3), X-linked recessive; Rett syndrome, atypical, 312750 (3), X-linked dominant; Encephalopathy, neonatal severe, 300673 (3), X-linked recessive; Intellectual developmental disorder, X-linked syndromic, Lubs type, 300260 (3), X-linked recessive; {Autism susceptibility, X-linked 3, 300496 (3), X-linked; Rett syndrome, 312750 (3), X-linked dominant; Rett syndrome, preserved speech variant, 312750 (3), X-linked dominant Mecp2 (MGI:99918) -chrX 154137726 154144285 Xq28 Xq28 300824 OPN1C OPN1LW and OPN1MW genes, controller of 107604627 -chrX 154144242 154159031 Xq28 Xq28 300822 OPN1LW, RCP, CBP, CBBM Red cone pigment (opsin 1, long-wave-sensitive) OPN1LW 5956 ENSG00000102076 5' to CBD Blue cone monochromacy, 303700 (3), X-linked recessive; Colorblindness, protan, 303900 (3), X-linked Opn1mw (MGI:1097692) -chrX 154182595 154196860 Xq28 Xq28 300821 OPN1MW, GCP, CBD, CBBM Green cone pigment (opsin 1, medium-wave-sensitive) OPN1MW 2652 ENSG00000268221 linked to G6PD; multiple genes Colorblindness, deutan, 303800 (3), X-linked; Blue cone monochromacy, 303700 (3), X-linked recessive -chrX 154271264 154295355 Xq28 Xq28 300092 TEX28 Testis-expressed gene on Xq28 TEX28 1527 ENSG00000278057 Tex28 (MGI:2686384) -chrX 154295794 154330349 Xq28 Xq28 300044 TKTL1, TKT2, TKR Transketolase-like 1 TKTL1 8277 ENSG00000007350 between GCP and FLN1 Tktl1 (MGI:1933244) -chrX 154348530 154374633 Xq28 Xq28 300017 FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2 Filamin A, alpha (actin-binding protein-280) FLNA 2316 ENSG00000196924 mutation identified in 1 FGS2 patient Otopalatodigital syndrome, type II, 304120 (3), X-linked dominant; Intestinal pseudoobstruction, neuronal, 300048 (3), X-linked recessive; Cardiac valvular dysplasia, X-linked, 314400 (3), X-linked; ?FG syndrome 2, 300321 (3), X-linked; Melnick-Needles syndrome, 309350 (3), X-linked dominant; Terminal osseous dysplasia, 300244 (3), X-linked dominant; Congenital short bowel syndrome, 300048 (3), X-linked recessive; Otopalatodigital syndrome, type I, 311300 (3), X-linked dominant; Heterotopia, periventricular, 1, 300049 (3), X-linked dominant; Frontometaphyseal dysplasia 1, 305620 (3), X-linked recessive Flna (MGI:95556) -chrX 154379235 154381522 Xq28 Xq28 300384 EMD, EDMD, STA Emerin EMD 2010 ENSG00000102119 in distal Xq28 Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3), X-linked recessive Emd (MGI:108117) -chrX 154398064 154402338 Xq28 Xq28 312173 RPL10, DXS648, QM, AUTSX5, MRXS35 Ribosomal protein L10 RPL10 6134 ENSG00000147403 {Autism, susceptibility to, X-linked 5}, 300847 (3); Intellectual developmental disorder, X-linked, syndromic, 35, 300998 (3), X-linked recessive Rpl10 (MGI:105943) -chrX 154401235 154412100 Xq28 Xq28 300081 DNASE1L1, DNL1L Deoxyribonuclease I-like 1 DNASE1L1 1774 ENSG00000013563 between QM and DXS1010E Dnase1l1 (MGI:109628) -chrX 154411538 154421725 Xq28 Xq28 300394 TAZ, EFE2, BTHS, CMD3A, LVNCX Tafazzin TAFAZZIN 6901 ENSG00000102125 Barth syndrome, 302060 (3), X-linked recessive Tafazzin (MGI:109626) -chrX 154428668 154436515 Xq28 Xq28 300197 ATP6AP1, ATP6IP1, ATP6S1, VATPS1 ATPase, H+ transporting, lysosomal, accessory protein 1 ATP6AP1 537 ENSG00000071553 Immunodeficiency 47, 300972 (3), X-linked recessive Atp6ap1 (MGI:109629) -chrX 154437153 154443466 Xq28 Xq28 300104 GDI1, RABGD1A, MRX41, MRX48, XLID41 GDP dissociation inhibitor 1 GDI1 2664 ENSG00000203879 Intellectual developmental disorder, X-linked 41, 300849 (3), X-linked dominant Gdi1 (MGI:99846) -chrX 154444140 154450653 Xq28 Xq28 300453 FAM50A, DXS9928E, HXC26, MRXSA Family with sequence similarity 50, member A FAM50A 9130 ENSG00000071859 Intellectual developmental disorder, X-linked, syndromic, Armfield type, 300261 (3), X-linked recessive Fam50a (MGI:1351626) -chrX 154458280 154477778 Xq28 Xq28 300022 SEX Sex chromosome X transmembrane protein of HGF receptor family 3 PLXNA3 55558 ENSG00000130827 Plxna3 (MGI:107683) -chrX 154477774 154479280 Xq28 Xq28 300060 LAGE3, ITBA2, GAMOS2 L antigen family member 3 LAGE3 8270 ENSG00000196976 Galloway-Mowat syndrome 2, X-linked, 301006 (3), X-linked recessive Lage3 (MGI:1913442) -chrX 154483716 154486614 Xq28 Xq28 312070 UBL4A, GDX, UBL4, DX254E Ubiquitin-like 4A UBL4A 8266 ENSG00000102178 40kb 3' to G6PD Ubl4a,Gm44504 (MGI:95049,MGI:5621304) -chrX 154487309 154490655 Xq28 Xq28 312090 SLC10A3, P3 Solute carrier family 10 (sodium/bile acid cotransporter family) member 3 (protein p3) SLC10A3 8273 ENSG00000126903 order: G6PD-3'-(7kb)-5'-P3-3'-(0.5kb)-5'-GDX Slc10a3 (MGI:95048) -chrX 154506163 154516256 Xq28 Xq28 300492 FAM3A Family with sequence similarity 3, member A FAM3A 60343 ENSG00000071889 Fam3a (MGI:1913544) -chrX 154531389 154547568 Xq28 Xq28 305900 G6PD, G6PD1 Glucose-6-phosphate dehydrogenase G6PD 2539 ENSG00000160211 Hemolytic anemia, G6PD deficient (favism), 300908 (3), X-linked dominant; {Resistance to malaria due to G6PD deficiency}, 611162 (3) G6pdx,G6pd2 (MGI:105977,MGI:105979) -chrX 154541237 154565045 Xq28 Xq28 300248 IKBKG, NEMO, FIP3, IP, EDAID1, IMD33 Inhibitor of nuclear factor kappa B kinase, regulatory subunit gamma IKBKG 8517 ENSG00000269335 Incontinentia pigmenti, 308300 (3), X-linked dominant; Ectodermal dysplasia and immunodeficiency 1, 300291 (3), X-linked recessive; Immunodeficiency 33, 300636 (3), X-linked recessive Ikbkg (MGI:1338074) -chrX 154585132 154586815 Xq28 Xq28 300657 CTAG1A, LAGE2A Cancer/testis antigen 1A CTAG1A 246100 ENSG00000268651 Ctag2l1,Ctag2l2,Ctag2 (MGI:3645826,MGI:3644285,MGI:1917312) -chrX 154617608 154619281 Xq28 Xq28 300156 CTAG1B, CTAG1 Cancer/testis antigen 1B CTAG1B 1485 ENSG00000184033 -chrX 154651976 154653578 Xq28 Xq28 300396 CTAG2, LAGE1, CAMEL Cancer/testis antigen 2 CTAG2 30848 ENSG00000126890 Ctag2l2,Ctag2 (MGI:3645826,MGI:1917312) -chrX 154675248 154751565 Xq28 Xq28 300482 GAB3 GRB2-associated binding protein 3 GAB3 139716 ENSG00000160219 Gab3 (MGI:2387324) -chrX 154762863 154777688 Xq28 Xq28 300126 DKC1, DKCX Dyskerin DKC1 1736 ENSG00000130826 Dyskeratosis congenita, X-linked, 305000 (3), X-linked recessive Dkc1 (MGI:1861727) -chrX 154778683 154805484 Xq28 Xq28 305360 MPP1, PEMP, EMP55 Membrane protein, palmitoylated-1, 55kD MPP1 4354 ENSG00000130830 ~30kb 3' and centromeric to F8 Mpp1 (MGI:105941) -chrX 154835791 155022722 Xq28 Xq28 300841 F8, F8C, HEMA Coagulation factor VIII, procoagulant component F8 2157 ENSG00000185010 cen-G6PD-3' end of F8C-5'-ter; 1.1Mb from telomere Hemophilia A, 306700 (3), X-linked recessive F8 (MGI:88383) -chrX 154884971 154885557 Xq28 Xq28 301037 H2AB1, H2AFB1 H2A.B variant histone 1 H2AB1 474382 ENSG00000274183 H2ab3,H2ab1,H2ab2 (MGI:3644875,MGI:3644980,MGI:3642445) -chrX 154886354 154888060 Xq28 Xq28 305423 F8A1, DXS522E, HAP40 Coagulation factor VIII associated 1 F8A1 8263 ENSG00000288722 3 copies, 1 in intron 22 of F8C F8a (MGI:95474) -chrX 155026843 155060303 Xq28 Xq28 301042 FUNDC2, HCBP6, HCC3 FUN14 domain-containing protein 2 FUNDC2 65991 ENSG00000165775 Fundc2,Gm10731 (MGI:3795712,MGI:1914641) -chrX 155064033 155071135 Xq28 Xq28 300116 MTCP1 Mature T-cell proliferation 1 MTCP1 4515 ENSG00000214827 Mtcp1 (MGI:102699) -chrX 155071402 155126765 Xq28 Xq28 300617 BRCC3, BRCC36 BRCA1/BRCA2-containing complex, subunit 3 BRCC3 79184 ENSG00000185515 Brcc3,Gm5136 (MGI:3647286,MGI:2389572) -chrX 155197006 155239840 Xq28 Xq28 300133 VBP1 Von Hippel-Lindau binding protein-1 VBP1 7411 ENSG00000155959 Vbp1 (MGI:1333804) -chrX 155258234 155264490 Xq28 Xq28 300774 RAB39B, XLID72, WSMN, MRX72 Ras-associated protein RAB39B RAB39B 116442 ENSG00000155961 Intellectual developmental disorder, X-linked 72, (3) Waisman syndrome, 300271 (3), X-linked recessive Rab39b (MGI:1915040) -chrX 155276210 155334613 Xq28 Xq28 300138 CLIC2, XAP121, MRXS32 Chloride intracellular channel 2 CLIC2 1193 ENSG00000155962 mutation identified in 1 MRXS32 family ?Intellectual developmental disorder, X-linked syndromic 32, 300886 (3), X-linked recessive -chrX 155380708 155381298 Xq28 Xq28 301038 H2AB2, H2AFB2 H2A.B variant histone 2 H2AB2 474381 ENSG00000277858 H2ab3,H2ab1,H2ab2 (MGI:3644875,MGI:3644980,MGI:3642445) -chrX 155459414 155460004 Xq28 Xq28 300445 H2AB3, H2AFB, H2ABBD H2A.B variant histone 3 H2AB3 83740 ENSG00000277745 -chrX 155489010 155612951 Xq28 Xq28 300777 TMLHE, BBOX2, TMLH, TMLHED, AUTSX6 Epsilon-trimethyllysine hydroxylase TMLHE 55217 ENSG00000185973 {Autism, susceptibility to, X-linked 6}, 300872 (3), X-linked recessive Tmlhe (MGI:2180203) -chrX 155612585 155782458 Xq28 Xq28 300531 SPRY3 Sprouty RTK signaling antagonist 3 SPRY3 10251 ENSG00000168939 in pseudoautosomal region PAR2 Spry3 (MGI:1345188) -chrX 155881317 155943768 Xq28 Xq28 300053 VAMP7, SYBL1, TIVAMP Vesicle-associated membrane protein 7 VAMP7 6845 ENSG00000124333 Vamp7 (MGI:1096399) -chrX 155997630 156013016 Xq28 Xq28 300007 IL9R Interleukin-9 receptor IL9R 3581 ENSG00000124334 in PAR2 pseudoautosomal region Il9r (MGI:96564) -chrX 0 156040895 Chr.X 300864 CCCSX Cerebral-cerebellar-coloboma syndrome, X-linked 100820758 Cerebral-cerebellar-coloboma syndrome, X-linked, 300864 (2), X-linked recessive -chrX 0 156040895 Chr.X 300471 CVMRF Cubitus valgus with mental retardation and unusual facies 494028 Cubitus valgus with mental retardation and unusual facies, 300471 (2), X-linked recessive -chrX 0 156040895 Chr.X 300719 DFCTRPS Deafness, cataract, retinitis pigmentosa, and sperm abnormalities 100188774 Deafness, cataract, retinitis pigmentosa, and sperm abnormalities, 300719 (2), X-linked recessive -chrX 0 156040895 Chr.X 300345 MCOPCB1 Microphthalmia, isolated, with coloboma 1 85503 Microphthalmia with coloboma 1, 300345 (2) -chrX 0 156040895 Chr.X 300716 MRX95 Mental retardation, X-linked 95 102775568 Mental retardation, X-linked 95, 300716 (2), X-linked dominant -chrX 0 156040895 Chr.X 300519 MRXSMP Mental retardation, X-linked, syndromic, Martin-Probst type 574047 Mental retardation, X-linked, syndromic, Martin-Probst type, 300519 (2), X-linked recessive -chrX 0 156040895 Chr.X 300484 OFD8 Orofaciodigital syndrome VIII Orofaciodigital syndrome VIII, 300484 (2), X-linked recessive -chrY 0 300000 Yp11.32 400046 PLCXD1Y Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 1 in pseudoautosomal region -chrY 600000 10300000 Yp11.2 400049 DHRSY Dehydrogenase/reductase, Y-linked -chrY 624343 659410 Ypter-p11.2 Yp11.2 400020 SHOXY Short stature homeo box, Y-linked SHOX 6473 ENSG00000185960 pseudoautosomal Short stature, idiopathic familial, 300582 (3); Langer mesomelic dysplasia, 249700 (3), Pseudoautosomal recessive; Leri-Weill dyschondrosteosis, 127300 (3), Pseudoautosomal dominant -chrY 1190436 1212761 Yp11.3 Yp11.2 400023 CRLF2Y Cytokine receptor-like factor 2, Y-linked CRLF2 64109 ENSG00000205755 pseudoautosomal Crlf2 (MGI:1889506) -chrY 1268813 1325217 Yp11 Yp11.2 425000 CSF2RY Granulocyte-macrophage colony-stimulating factor receptor, alpha subunit (Y chromosome) CSF2RA 1438 ENSG00000198223 306250 = X homolog; distal to MIC2Y Csf2ra (MGI:1339754) -chrY 1336573 1382688 Yp11.3 Yp11.2 430000 IL3RA, IL3RY, IL3RAY Interleukin-3 receptor (Y chromosome) IL3RA 3563 ENSG00000185291 308385 = X homolog; pseudoautosomal Il3ra (MGI:96553) -chrY 1386151 1392112 Yp Yp11.2 403000 ANT3Y Adenine nucleotide translocator-3 (Y chromosome) SLC25A6 293 ENSG00000169100 300151 = X homolog; proximal to CSF2RY -chrY 1403138 1453793 Ypter-p11.2 Yp11.2 400011 ASMTLY Acetylserotonin methyltransferase-like, Y-linked ASMTL 8623 ENSG00000169093 -chrY 1591603 1602519 Ypter-p11.2 Yp11.2 465000 AKAP17A, SFRS17A, XE7Y A kinase (PRKA) anchor protein 17A AKAP17A 8227 ENSG00000197976 see 300015 locus Akap17b (MGI:2443758) -chrY 1595454 1643080 Ypter-p11.2 Yp11.2 402500 ASMTY Acetylserotonin methyltransferase (Y chromosome) ASMT 438 ENSG00000196433 pseudoautosomal Asmt (MGI:96090) -chrY 2691294 2741308 Ypter-p11.2 Yp11.2 450000 MIC2Y Antigen identified by monoclonal 12E7, Y homolog CD99 4267 ENSG00000002586 pseudoautosomal Cd99 (MGI:1913728) -chrY 2786854 2787681 Yp11.3 Yp11.2 480000 SRY, TDF, TDY, SRXX1, SRXY1 Sex-determining region Y (testis determining factor) SRY 6736 ENSG00000184895 46XY sex reversal 1, 400044 (3), Y-linked; 46XX sex reversal 1, 400045 (4), X-linked dominant Sry (MGI:98660) -chrY 2841601 2867267 Yp11.3 Yp11.2 470000 RPS4Y1 Ribosomal protein S4, Y-linked, 1 RPS4Y1 6192 ENSG00000129824 Rps4x (MGI:98158) -chrY 2935380 2982507 Yp11.3 Yp11.2 490000 ZFY Zinc finger protein, Y-linked ZFY 7544 ENSG00000067646 Zfx,Zfy1,Zfy2 (MGI:99211,MGI:99212,MGI:99213) -chrY 3579066 3580040 Yp11.2 Yp11.2 400025 TGIF2LY, TGIFLY Transforming growth factor-beta-induced factor 2-like, Y-linked TGIF2LY 90655 ENSG00000176679 Tgif2lx1 (MGI:2387796) -chrY 5000043 5742227 Yp11.2 Yp11.2 400022 PCDH11Y, PCDH22, PCDHY Protocadherin 22 PCDH11Y 83259 ENSG00000099715 Pcdh11x (MGI:2442849) -chrY 6865917 6911751 Yp11 Yp11.2 410000 AMELY, AMGL Amelogenin (Y chromosome) AMELY 266 ENSG00000099721 301200 = X homolog Amelx (MGI:88005) -chrY 6908593 7107153 Yp11.2 Yp11.2 400033 TBL1Y, DFNY2 Transducin-beta-like 1, Y-linked TBL1Y 90665 ENSG00000092377 mutation identified in 1 DFNY2 family ?Deafness, Y-linked 2, 400047 (3), Y-linked Tbl1x (MGI:1336172) -chrY 7273971 7381546 Yp11.2 Yp11.2 400008 PRKY Protein kinase, Y-linked PRKY 5616 ENSG00000099725 -chrY 9466954 9469755 Ypter-p11.2 Yp11.2 480100 TSPY1, TSPY Testis-specific protein, Y-linked, 1 TSPY1 7258 ENSG00000258992 -chrY 10300000 10400000 Yp11 489500 XGR XG regulator in pseudoautosomal region -chrY 10400000 57227415 Yq 425500 HEY Hairy ears, Y-linked 100188776 ?Hairy ears, Y-linked, 425500 (2), Y-linked -chrY 12701230 12860838 Yq11.2 Yq11.221 400005 USP9Y, DFFRY, SPGFY2 Ubiquitin-specific protease-9, Y chromosome (Drosophila fat facets related, Y-linked) USP9Y 8287 ENSG00000114374 Spermatogenic failure, Y-linked, 2, 415000 (3), Y-linked Usp9y (MGI:1313274) -chrY 12903998 12920477 Yq11 Yq11.221 400010 DDX3Y, DBY DEAD-box helicase 3, Y-linked DDX3Y 8653 ENSG00000067048 Ddx3y (MGI:1349406) -chrY 13231826 13480669 Yq11 Yq11.221 400009 UTY Ubiquitously transcribed TPR gene on Y chromosome UTY 7404 ENSG00000183878 Uty (MGI:894810) -chrY 13703898 13706023 Yq11.221 Yq11.221 400017 TMSB4Y Thymosin, beta-4, Y chromosome TMSB4Y 9087 ENSG00000154620 Tmsb4x (MGI:99510) -chrY 13985771 13986472 Yq11.221 Yq11.221 400012 VCY, BPY1 Variably charged, Y chromosome VCY 9084 ENSG00000129864 -chrY 14522615 14845653 Yq11.2 Yq11.221 400028 NLGN4Y, KIAA0951 Neuroligin 4, Y-linked NLGN4Y 22829 ENSG00000165246 Nlgn4l (MGI:3775191) -chrY 17768979 17770559 Yq11.222 Yq11.222 400015 XKRY XK-related protein on Y chromosome XKRY 9082 ENSG00000250868 -chrY 18025786 18027745 Yq11.221 Yq11.222 400018 CDY2 Chromodomain protein, Y chromosome, 2 CDY2A 9426 ENSG00000182415 -chrY 18529677 18588962 Yq11.2 Yq11.222 400029 HSFY Heat shock transcription factor, Y-linked HSFY1 86614 ENSG00000172468 Hsfy2 (MGI:1918316) -chrY 19567357 19607169 Yq11.222-q11.223 Yq11.222-q11.223 400031 TXLNGY, CYorf15A, CYorf15B Taxilin gamma pseudogene, Y-linked TXLNGY 246126 ENSG00000131002 transcribed pseudogene -chrY 19703864 19745340 Yq11 Yq11.223 426000 KDM5D, JARID1D, SMCY, HYA Lysine demethylase 5D KDM5D 8284 ENSG00000012817 encodes H-Y epitope in mouse Kdm5d (MGI:99780) -chrY 20575775 20593153 Yq11.223 Yq11.223 400014 EIF1AY Eukaryotic translation initiation factor 1A, Y isoform EIF1AY 9086 ENSG00000198692 Eif1ax,Eif1ad19,Eif1ad8,Eif1ad13,Eif1ad7,Eif1ad6,Eif1ad4,Eif1ad3,Eif1a,Eif1ad2 (MGI:3034635,MGI:3780185,MGI:5434674,MGI:3780191,MGI:3648257,MGI:1913485,MGI:3643794,MGI:5439387,MGI:3782201,MGI:95298) -chrY 20756107 20781031 Yq11.2 Yq11.223 400030 RPS4Y2 Ribosomal protein S4, Y-linked RPS4Y2 140032 ENSG00000280969 Rps4x (MGI:98158) -chrY 21534878 21559682 Yq11 Yq11.223 400006 RBMY1A1, RBM1, YRRM1, RBM2 RNA binding motif protein, Y chromosome, family 1, member A1 RBMY1A1 5940 ENSG00000234414 Gm3376,Rbmy (MGI:104732,MGI:3781554) -chrY 22071755 22096006 Yq11.2 Yq11.223 400041 PRY2 PTPBL-related gene on Y, 2 PRY2 442862 ENSG00000169807 -chrY 22296797 22298875 Yq11.223 Yq11.223 400038 TTTY5 Testis-specific transcript, Y-linked, 5 TTTY5 83863 ENSG00000215560 -chrY 22439592 22441458 Yq11.223 Yq11.223 400039 TTTY6 Testis-specific transcript, Y-linked, 6 TTTY6 84672 ENSG00000131538 -chrY 22490290 22516302 Yq11.223 Yq11.223 400019 PRY PTPN13-like, Y-linked PRY 9081 ENSG00000169789 -chrY 22851583 22852714 Yq11.223 Yq11.223 400040 TTY17 Testis-specific transcript, Y-linked, 17 TTTY17A 252949 ENSG00000228240 -chrY 22936454 22973283 Yq11.223 Yq11.223 400037 TTTY4 Testis-specific transcript, Y-linked, 4 TTTY4 114761 ENSG00000226906 -chrY 22984262 23005464 Yq Yq11.223 400013 BPY2 Basic protein on Y chromosome, 2 BPY2 9083 ENSG00000183753 -chrY 23129354 23199116 Yq11 Yq11.223 400003 DAZ1 Deleted in azoospermia 1 DAZ1 1617 ENSG00000188120 Dazl (MGI:1342328) -chrY 23219456 23291355 Yq11.2 Yq11.223 400026 DAZ2 Deleted in azoospermia 2 DAZ2 57055 ENSG00000205944 Dazl (MGI:1342328) -chrY 23800000 26600000 Yq11 400042 DELYq11, CYDELq11, SPGFY1 Chromosome Yq11 interstitial deletion syndrome contiguous gene deletion syndrome Spermatogenic failure, Y-linked, 1, 400042 (4), Y-linked -chrY 24209966 24214830 Yq11.23 Yq11.23 400035 GOLGA2P2Y, GOLGA2LY GOLGA2 pseudogene 2, Y-linked GOLGA2P2Y 84559 ENSG00000239533 -chrY 24763068 24813392 Yq11.2 Yq11.23 400027 DAZ3 Deleted in azoospermia 3 DAZ3 57054 ENSG00000187191 Dazl (MGI:1342328) -chrY 24833805 24907039 Yq11.2 Yq11.23 400048 DAZ4 Deleted in azoospermia 4 DAZ4 57135 ENSG00000205916 Dazl (MGI:1342328) -chrY 25482907 25486704 Yq11.23 Yq11.23 400034 CSPG4P1Y, CSPG4LY Chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked CSPG4P1Y 114758 ENSG00000240450 -chrY 25622094 25625510 Yq11.23 Yq11.23 400016 CDY1, CDY Chromodomain protein, Y chromosome CDY1 9085 ENSG00000172288 -chrY 25728489 25733387 Yq11.23 Yq11.23 400036 TTTY3 Testis-specific transcript, Y-linked, 3 TTTY3 114760 ENSG00000231141 -chrY 26600000 57227415 Yq12 475000 GCY, TSY, STA Growth control, Y-chromosome influenced 2656 -chrY 0 57227415 Chr.Y 400043 DFNY1 Deafness, Y-linked 1 724074 Deafness, Y-linked 1, 400043 (2), Y-linked -chrY 0 57227415 Chr.Y 400004 RPY Retinitis pigmentosa, Y-linked 79051 Retinitis pigmentosa, Y-linked, 400004 (2), Y-linked -# -# -# -# -# Source of data in fields are as follows: -# ---------------------------------------- -# -# Chromosome (NCBI) -# Genomic position start * (NCBI) -# Genomic position end (NCBI) -# Cyto location (OMIM) -# Computed cyto location (UCSC) -# MIM Number for Gene/Locus (OMIM) -# Gene symbols (OMIM) -# Gene name (OMIM) -# Approved gene symbol (HGNC) -# Entrez gene ID (NCBI) -# Ensembl gene ID (Ensembl) -# Comments (OMIM) -# Phenotype(s) (OMIM) -# Mouse gene symbol & ID (MGI) -# -# * for phenotypes with mapping key of (2) or genes not found in NCBI -# data, genomic coordinates are derived from OMIM's cyto location mapped -# to genomic using UCSC table. -# -# -# OMIM Phenotype field is nested: -# ------------------------------- -# -# Each Phenotype is followed by its MIM number, if different from -# that of the locus, preceded by a comma -# Phenotype mapping key in parentheses follows the phenotype MIM -# number (explanation below). -# Allelic disorders are separated by a semi-colon following the -# phenotype mapping key. -# Inheritance for the phenotype follows the phenotype mapping key -# preceded by a , -# Explanation of the symbols and question marks (?) in the Phenotype -# field is given in OMIM FAQ 1.6) -# -# -# Phenotype Mapping Method - Appears in parentheses after a disorder : -# -------------------------------------------------------------------- -# -# 1 - the disorder is placed on the map based on its association with -# a gene, but the underlying defect is not known. -# 2 - the disorder has been placed on the map by linkage; no mutation has -# been found. -# 3 - the molecular basis for the disorder is known; a mutation has been -# found in the gene. -# 4 - a contiguous gene deletion or duplication syndrome, multiple genes -# are deleted or duplicated causing the phenotype. -# -# -# Genomic Coordinates - GRCh38 : -# ------------------------------ -# -# The genomic coordinates for the genes are for GRCh38, if you need -# coordinates for for GRCh37, you can get them from this file and use -# the MIM number or the Entrez gene ID to map them: -# -# https://ftp.ncbi.nlm.nih.gov/genomes/archive/old_refseq/H_sapiens/ARCHIVE/BUILD.37.3/GFF/ref_GRCh37.p5_top_level.gff3.gz -# -# -# Sample code to parse this file : -# -------------------------------- -# -# You can find sample code in Python to parse this file here: -# -# https://github.com/OMIM-org/genemap2-parser -# diff --git a/data/hgnc/hgnc_complete_set.txt b/data/hgnc/hgnc_complete_set.txt new file mode 100644 index 0000000..e3ee5b4 --- /dev/null +++ b/data/hgnc/hgnc_complete_set.txt @@ -0,0 +1,43137 @@ +hgnc_id symbol name locus_group locus_type status location location_sortable alias_symbol alias_name prev_symbol prev_name gene_group gene_group_id date_approved_reserved date_symbol_changed date_name_changed date_modified entrez_id ensembl_gene_id vega_id ucsc_id ena refseq_accession ccds_id uniprot_ids pubmed_id mgd_id rgd_id lsdb cosmic omim_id mirbase homeodb snornabase bioparadigms_slc orphanet pseudogene.org horde_id merops imgt iuphar kznf_gene_catalog mamit-trnadb cd lncrnadb enzyme_id intermediate_filament_db rna_central_ids lncipedia gtrnadb agr mane_select gencc +HGNC:5 A1BG alpha-1-B glycoprotein protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Immunoglobulin like domain containing 594 1989-06-30 2020-09-17 1 ENSG00000121410 OTTHUMG00000183507 uc002qsd.5 NM_130786 CCDS12976 P04217 2591067 MGI:2152878 RGD:69417 138670 I43.950 HGNC:5 "ENST00000263100.8|NM_130786.4" +HGNC:37133 A1BG-AS1 A1BG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 FLJ23569 "NCRNA00181|A1BGAS|A1BG-AS" "non-protein coding RNA 181|A1BG antisense RNA (non-protein coding)|A1BG antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-07-20 2010-11-25 2012-08-15 2013-06-27 503538 ENSG00000268895 OTTHUMG00000183508 uc002qse.3 BC040926 NR_015380 A1BG-AS1 HGNC:37133 +HGNC:24086 A1CF APOBEC1 complementation factor protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "ACF|ASP|ACF64|ACF65|APOBEC1CF" RNA binding motif containing 725 2007-11-23 2016-10-05 29974 ENSG00000148584 OTTHUMG00000018240 uc057tgv.1 AF271790 NM_014576 "CCDS73133|CCDS7241|CCDS7243|CCDS7242" Q9NQ94 "11815617|11072063" MGI:1917115 RGD:619834 618199 HGNC:24086 "ENST00000373997.8|NM_014576.4" +HGNC:7 A2M alpha-2-macroglobulin protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "FWP007|S863-7|CPAMD5" C3 and PZP like, alpha-2-macroglobulin domain containing 1234 1986-01-01 2021-04-13 2 ENSG00000175899 OTTHUMG00000150267 uc001qvk.2 "BX647329|X68728|M11313" NM_000014 CCDS44827 P01023 "2408344|9697696" MGI:2449119 RGD:2004 LRG_591|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_591.xml 103950 I39.001 HGNC:7 "ENST00000318602.12|NM_000014.6" HGNC:7 +HGNC:27057 A2M-AS1 A2M antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 "A2M antisense RNA 1 (non-protein coding)|A2M antisense RNA 1" Antisense RNAs 1987 2012-06-23 2018-03-21 2018-03-21 144571 ENSG00000245105 OTTHUMG00000168289 uc009zgj.2 NR_026971 A2M-AS1 HGNC:27057 +HGNC:23336 A2ML1 alpha-2-macroglobulin like 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "FLJ25179|p170" CPAMD9 C3 and PZP-like, alpha-2-macroglobulin domain containing 9 C3 and PZP like, alpha-2-macroglobulin domain containing 1234 2005-07-20 2005-09-01 2016-03-07 2018-04-17 144568 ENSG00000166535 OTTHUMG00000128499 uc001quz.6 AK057908 NM_144670 "CCDS73439|CCDS8596" A8K2U0 16298998 "MGI:99836|MGI:99837" RGD:1565709 610627 410627 I39.007 HGNC:23336 "ENST00000299698.12|NM_144670.6" HGNC:23336 +HGNC:41022 A2ML1-AS1 A2ML1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 A2ML1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2014-11-19 100874108 ENSG00000256661 OTTHUMG00000168273 uc058kxy.1 A2ML1-AS1 +HGNC:41523 A2ML1-AS2 A2ML1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 A2ML1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2014-11-19 106478979 ENSG00000256904 OTTHUMG00000168274 uc058kyb.1 A2ML1-AS2 +HGNC:8 A2MP1 alpha-2-macroglobulin pseudogene 1 pseudogene pseudogene Approved 12p13.31 12p13.31 A2MP alpha-2-macroglobulin pseudogene 1991-09-12 2010-02-24 2010-02-24 2016-08-22 3 ENSG00000256069 OTTHUMG00000168334 M24415 NG_001067 2478422 PGOHUM00000291221 HGNC:8 +HGNC:30005 A3GALT2 alpha 1,3-galactosyltransferase 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "IGBS3S|IGB3S" "iGb3 synthase|isoglobotriaosylceramide synthase" A3GALT2P alpha 1,3-galactosyltransferase 2, pseudogene Glycosyltransferase family 6 429 2005-05-06 2013-03-11 2013-03-11 2018-02-08 127550 ENSG00000184389 OTTHUMG00000004125 uc031plq.1 NM_001080438 CCDS60080 U3KPV4 "10854427|18630988" MGI:2685279 RGD:727913 HGNC:30005 "ENST00000442999.3|NM_001080438.1" +HGNC:18149 A4GALT alpha 1,4-galactosyltransferase (P blood group) protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "A14GALT|Gb3S|P(k)" "Gb3 synthase|CD77 synthase|globotriaosylceramide synthase|lactosylceramide 4-alpha-galactosyltransferase" P1 "alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)|P one antigen (P blood group)" "Alpha 1,4-glycosyltransferases|Blood group antigens" "442|454" 2002-02-06 2017-03-16 2021-04-13 53947 ENSG00000128274 OTTHUMG00000150744 uc062ewl.1 NM_017436 CCDS14041 Q9NPC4 "10854428|20971946" MGI:3512453 RGD:621583 LRG_795|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_795.xml 607922 2.4.1.228 HGNC:18149 "ENST00000642412.2|NM_017436.7" +HGNC:17968 A4GNT alpha-1,4-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 3q22.3 03q22.3 alpha4GnT Alpha 1,4-glycosyltransferases 442 2004-07-12 2016-10-05 51146 ENSG00000118017 OTTHUMG00000159820 uc003ers.2 AF141315 NM_016161 CCDS3097 Q9UNA3 10430883 MGI:2143261 RGD:1590210 616709 HGNC:17968 "ENST00000236709.4|NM_016161.3" +HGNC:13666 AAAS aladin WD repeat nucleoporin protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "aladin|Allgrove, triple-A|adracalin" "achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)|achalasia, adrenocortical insufficiency, alacrimia" "WD repeat domain containing|Nucleoporins" "362|1051" 2000-11-08 2015-12-14 2018-03-12 8086 ENSG00000094914 OTTHUMG00000169729 uc001scr.5 AJ289841 NM_001173466 "CCDS8856|CCDS53797" Q9NRG9 "11062474|12196509" MGI:2443767 RGD:1308701 605378 117613 HGNC:13666 "ENST00000209873.9|NM_015665.6" HGNC:13666 +HGNC:21298 AACS acetoacetyl-CoA synthetase protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ12389|SUR-5|ACSF1" acyl-CoA synthetase family member 1 Acyl-CoA synthetase family 40 2003-06-02 2015-08-24 65985 ENSG00000081760 OTTHUMG00000168550 uc001uhc.4 AK022451 NM_023928 CCDS9263 Q86V21 "12623130|17762044" MGI:1926144 RGD:708522 614364 6.2.1.16 HGNC:21298 "ENST00000316519.11|NM_023928.5" +HGNC:18226 AACSP1 acetoacetyl-CoA synthetase pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 AACSL acetoacetyl-CoA synthetase-like 2004-06-04 2010-09-29 2010-09-29 2020-04-20 729522 ENSG00000250420 OTTHUMG00000163584 NR_024035 HGNC:18226 +HGNC:17 AADAC arylacetamide deacetylase protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "DAC|CES5A1" arylacetamide deacetylase (esterase) "Lipases|Arylacetamide deacetylase family" "464|465" 1996-12-27 2012-07-13 2021-11-05 13 ENSG00000114771 OTTHUMG00000159876 uc003eze.4 L32179 NM_001086 CCDS33877 P22760 "8063807|9299245" MGI:1915008 RGD:631440 600338 S09.991 3.1.1.3 HGNC:17 "ENST00000232892.12|NM_001086.3" HGNC:17 +HGNC:24427 AADACL2 arylacetamide deacetylase like 2 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 MGC72001 Arylacetamide deacetylase family 465 2005-03-18 2016-05-26 2018-05-03 344752 ENSG00000197953 OTTHUMG00000155914 uc003ezc.4 BC065724 NM_207365 CCDS3161 Q6P093 25715734 MGI:3646333 RGD:1563197 HGNC:24427 "ENST00000356517.4|NM_207365.4" +HGNC:50301 AADACL2-AS1 AADACL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Antisense RNAs 1987 2014-04-07 2014-04-07 101928142 ENSG00000242908 OTTHUMG00000159877 NR_110202 AADACL2-AS1 HGNC:50301 +HGNC:32037 AADACL3 arylacetamide deacetylase like 3 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000001887 Arylacetamide deacetylase family 465 2006-06-30 2016-05-26 2018-05-03 126767 ENSG00000188984 OTTHUMG00000001887 uc057ckc.1 NM_001103170 CCDS41253 Q5VUY0 MGI:2685281 RGD:1563257 HGNC:32037 "ENST00000359318.8|NM_001103170.3" +HGNC:32038 AADACL4 arylacetamide deacetylase like 4 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000001889 Arylacetamide deacetylase family 465 2006-06-30 2016-05-26 2018-04-17 343066 ENSG00000204518 OTTHUMG00000001889 uc001auf.3 NM_001013630 CCDS30590 Q5VUY2 "MGI:2685282|MGI:2685284|MGI:2685880|MGI:3650257|MGI:3650721|MGI:3652194" RGD:1565761 HGNC:32038 "ENST00000376221.2|NM_001013630.2" +HGNC:50305 AADACP1 arylacetamide deacetylase pseudogene 1 pseudogene pseudogene Approved 3q25.1 03q25.1 2014-04-07 2016-08-22 201651 ENSG00000240602 OTTHUMG00000159879 NR_026915 PGOHUM00000299631 HGNC:50305 +HGNC:17929 AADAT aminoadipate aminotransferase protein-coding gene gene with protein product Approved 4q33 04q33 "KATII|KAT2|KYAT2" "kynurenine aminotransferase II|L kynurenine/alpha aminoadipate aminotransferase" 2002-01-16 2020-04-20 51166 ENSG00000109576 OTTHUMG00000160912 uc032udw.1 AF097994 NM_016228 "CCDS3814|CCDS75209" Q8N5Z0 "12126930|10441733|18056995" MGI:1345167 RGD:2948 611754 "2.6.1.39|2.6.1.7" HGNC:17929 "ENST00000337664.9|NM_016228.4" +HGNC:25662 AAGAB alpha and gamma adaptin binding protein protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ11506|p34" 2009-07-20 2017-06-13 2021-05-26 79719 ENSG00000103591 OTTHUMG00000172246 uc002aqk.6 AL136715 NM_024666 "CCDS61679|CCDS42050" Q6PD74 "11230166|10477754" MGI:1914189 RGD:621601 614888 317366 HGNC:25662 "ENST00000261880.10|NM_024666.5" HGNC:25662 +HGNC:19679 AAK1 AP2 associated kinase 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "KIAA1048|DKFZp686K16132" Small nucleolar RNA protein coding host genes 1835 2003-07-21 2015-08-24 22848 ENSG00000115977 OTTHUMG00000129648 uc002sfp.3 AB028971 NM_014911 CCDS1893 Q2M2I8 "11877461|12471243" MGI:1098687 RGD:1305520 616405 objectId:1921 HGNC:19679 "ENST00000409085.9|NM_014911.5" +HGNC:30205 AAMDC adipogenesis associated Mth938 domain containing protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "PTD015|FLJ21035|CK067" C11orf67 chromosome 11 open reading frame 67 2006-03-27 2012-10-08 2016-06-21 2016-06-21 28971 ENSG00000087884 OTTHUMG00000166651 uc058fuq.1 BC016854 NM_024684 "CCDS8254|CCDS81604|CCDS81605" Q9H7C9 22279136 MGI:1913523 RGD:1561459 HGNC:30205 "ENST00000393427.7|NM_024684.4" +HGNC:18 AAMP angio associated migratory cell protein protein-coding gene gene with protein product Approved 2q35 02q35 WD repeat domain containing 362 1996-11-13 2015-12-08 2020-09-17 14 ENSG00000127837 OTTHUMG00000155202 uc002vhk.4 AB209790 NM_001087 "CCDS33378|CCDS77530" Q13685 7743515 MGI:107809 RGD:1306281 603488 HGNC:18 "ENST00000248450.9|NM_001087.5" +HGNC:19 AANAT aralkylamine N-acetyltransferase protein-coding gene gene with protein product Approved 17q25.1 17q25.1 SNAT serotonin N-acetyltransferase arylalkylamine N-acetyltransferase GCN5 related N-acetyltransferases 1134 1995-12-13 2010-05-07 2020-09-17 15 ENSG00000129673 OTTHUMG00000180179 uc002jro.4 U40347 NM_001088 "CCDS54169|CCDS11745" Q16613 8661026 MGI:1328365 RGD:2006 600950 469884 2.3.1.87 HGNC:19 "ENST00000392492.8|NM_001088.3" +HGNC:15886 AAR2 AAR2 splicing factor protein-coding gene gene with protein product Approved 20q11.23 20q11.23 bA234K24.2 C20orf4 "chromosome 20 open reading frame 4|AAR2 splicing factor homolog (S. cerevisiae)|AAR2 splicing factor homolog" 2001-06-21 2012-07-20 2019-02-18 2019-02-18 25980 ENSG00000131043 OTTHUMG00000032380 uc002xfc.4 NM_015511 CCDS13273 Q9Y312 26527271 MGI:1915545 RGD:1311066 617365 HGNC:15886 "ENST00000320849.9|NM_001271874.2" HGNC:15886 +HGNC:33842 AARD alanine and arginine rich domain containing protein protein-coding gene gene with protein product Approved 8q24.11 08q24.11 LOC441376 Alanine and arginine-rich domain-containing protein C8orf85 chromosome 8 open reading frame 85 2009-01-23 2012-04-19 2012-04-19 2017-07-14 441376 ENSG00000205002 OTTHUMG00000164961 uc003yof.4 "AB181519|BC140924" NM_001025357 CCDS34935 Q4LEZ3 27959439 MGI:2181621 RGD:631378 HGNC:33842 "ENST00000378279.4|NM_001025357.3" +HGNC:20 AARS1 alanyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CMT2N|AlaRS" alanine tRNA ligase 1, cytoplasmic AARS alanyl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 1995-07-11 2019-07-15 2019-07-15 2021-05-26 16 ENSG00000090861 OTTHUMG00000177042 uc002eyn.2 D32050 NM_001605 CCDS32474 P49588 8595897 MGI:2384560 RGD:1304832 LRG_359|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_359.xml 601065 232194 6.1.1.7 HGNC:20 "ENST00000261772.13|NM_001605.3" HGNC:20 +HGNC:49894 AARS1P1 alanyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 4q28.3 04q28.3 AARSP1 alanyl-tRNA synthetase pseudogene 1 2014-03-18 2019-07-15 2019-07-15 2020-04-20 106480683 ENSG00000249038 OTTHUMG00000161188 NG_043271 PGOHUM00000246081 HGNC:49894 +HGNC:21022 AARS2 alanyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "KIAA1270|bA444E17.1" alanine tRNA ligase 2, mitochondrial AARSL "alanyl-tRNA synthetase like|alanyl-tRNA synthetase 2, mitochondrial (putative)" Aminoacyl tRNA synthetases, Class II 132 2003-05-08 2007-02-23 2012-10-26 2021-05-26 57505 ENSG00000124608 OTTHUMG00000014766 uc010jza.2 AB033096 NM_020745 CCDS34464 Q5JTZ9 "15779907|21549344" MGI:2681839 RGD:1310617 612035 269639 6.1.1.7 HGNC:21022 "ENST00000244571.5|NM_020745.4" HGNC:21022 +HGNC:28417 AARSD1 alanyl-tRNA synthetase domain containing 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MGC2744|AlaXp" 2005-11-15 2020-11-27 80755 ENSG00000266967 OTTHUMG00000153515 uc031raq.2 BC004172 NM_001261434 CCDS58552 Q9BTE6 26884463 MGI:1916934 RGD:1561650 613212 HGNC:28417 "ENST00000427569.7|NM_001261434.2" +HGNC:54994 AARSD1P1 AARSD1 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 2020-05-15 2020-11-24 117981788 ENSG00000234969 NG_070706 PGOHUM00000305150 +HGNC:23993 AASDH aminoadipate-semialdehyde dehydrogenase protein-coding gene gene with protein product Approved 4q12 04q12 "NRPS998|LYS2|ACSF4" "acyl-CoA synthetase family member 4|Beta-alanine-activating enzyme" Acyl-CoA synthetase family 40 2007-10-17 2020-03-09 132949 ENSG00000157426 OTTHUMG00000128841 uc003hbn.5 AF516672 NM_181806 "CCDS3504|CCDS68705|CCDS75127|CCDS68706|CCDS75126" Q4L235 "15865210|12712191|17762044" MGI:2442517 RGD:1311135 614365 1.2.1.31 HGNC:23993 "ENST00000205214.11|NM_181806.4" +HGNC:14235 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "LYS5|CGI-80|AASD-PPT|ACPS" "holo ACP synthase|holo-[acyl-carrier-protein] synthase" 2000-12-21 2016-10-05 60496 ENSG00000149313 OTTHUMG00000166253 uc001pjc.2 AF302110 NM_015423 CCDS31664 Q9NRN7 "12815048|11286508|18022563" MGI:1914868 RGD:1311360 607756 2.7.8.7 HGNC:14235 "ENST00000278618.9|NM_015423.3" +HGNC:17366 AASS aminoadipate-semialdehyde synthase protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "LORSDH|LKRSDH" "alpha-aminoadipic semialdehyde synthase|lysine ketoglutarate reductase/saccharopine dehydrogenase" 2002-01-09 2020-05-28 10157 ENSG00000008311 OTTHUMG00000157058 uc003vkb.4 AF229180 NM_005763 CCDS5783 Q9UDR5 10775527 MGI:1353573 RGD:1310811 605113 123389 "1.5.1.8|1.5.1.9" HGNC:17366 "ENST00000417368.7|NM_005763.4" HGNC:17366 +HGNC:51526 AATBC apoptosis associated transcript in bladder cancer non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 apoptosis-associated transcript in bladder cancer Long non-coding RNAs with non-systematic symbols 1992 2015-02-13 2015-02-13 284837 ENSG00000215458 OTTHUMG00000086882 NR_026961 25473900 AATBC HGNC:51526 +HGNC:19235 AATF apoptosis antagonizing transcription factor protein-coding gene gene with protein product Approved 17q12 17q12 "DED|CHE-1|CHE1|BFR2" MicroRNA protein coding host genes 1691 2002-09-13 2015-01-29 26574 ENSG00000275700 OTTHUMG00000188458 uc002hni.3 AF083208 NM_012138 CCDS32632 Q9NY61 "11027528|10783144" MGI:1929608 RGD:620685 608463 HGNC:19235 "ENST00000619387.5|NM_012138.4" +HGNC:21 AATK apoptosis associated tyrosine kinase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "AATYK|KIAA0641|LMTK1|LMR1|AATYK1|PPP1R77" "lemur tyrosine kinase 1|protein phosphatase 1, regulatory subunit 77" "Receptor tyrosine kinases|Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "321|694|1691" 1999-09-16 2016-06-09 2020-09-17 9625 ENSG00000181409 OTTHUMG00000132717 uc010dia.4 AB014541 NM_004920 "CCDS58607|CCDS45807" Q6ZMQ8 "9734811|10083745|22573681" MGI:1197518 RGD:1590980 605276 objectId:1922 HGNC:21 "ENST00000326724.9|NM_001080395.3" +HGNC:22 AAVS1 adeno-associated virus integration site 1 other virus integration site Approved 19q13 19q13 AAV 1990-09-10 2010-06-16 17 S51329 1334463 102699 +HGNC:49667 ABALON apoptotic BCL2L1-antisense long non-coding RNA non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 INXS "apoptotic BCL-X-associated long ncRNA|intronic BCL-XS-inducing lncRNA" Long non-coding RNAs with non-systematic symbols 1992 2014-03-13 2018-08-15 103021294 ENSG00000281376 OTTHUMG00000189574 KC505631 NR_131907 HGNC:49667 +HGNC:23 ABAT 4-aminobutyrate aminotransferase protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "GABAT|GABA-T" "4-aminobutyrate transaminase|gamma-aminobutyrate aminotransferase|GABA transaminase" 1996-03-13 2021-05-26 18 ENSG00000183044 OTTHUMG00000048201 uc002czc.5 L32961 NM_020686 CCDS10534 P80404 7721088 MGI:2443582 RGD:620948 137150 117617 objectId:2464 2.6.1.19 HGNC:23 "ENST00000268251.13|NM_020686.6" HGNC:23 +HGNC:29 ABCA1 ATP binding cassette subfamily A member 1 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 TGD Tangier disease "ABC1|HDLDT1" ATP-binding cassette, sub-family A (ABC1), member 1 ATP binding cassette subfamily A 805 2005-03-17 2015-11-13 2021-05-26 19 ENSG00000165029 OTTHUMG00000020417 uc004bcl.4 AJ012376 NM_005502 CCDS6762 O95477 "8088782|10431236|10431237|10431238" MGI:99607 RGD:631344 LRG_542|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_542.xml 600046 159528 objectId:756 HGNC:29 "ENST00000374736.8|NM_005502.4" HGNC:29 +HGNC:32 ABCA2 ATP binding cassette subfamily A member 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 ABC2 ATP-binding cassette, sub-family A (ABC1), member 2 ATP binding cassette subfamily A 805 1994-03-16 2015-11-13 2021-05-26 20 ENSG00000107331 OTTHUMG00000020958 uc064xhf.1 U18235 NM_001606 CCDS43909 Q9BZC7 8088782 MGI:99606 RGD:620238 600047 objectId:757 HGNC:32 "ENST00000341511.11|NM_001606.5" HGNC:32 +HGNC:33 ABCA3 ATP binding cassette subfamily A member 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ABC-C|EST111653|LBM180" ABC3 ATP-binding cassette, sub-family A (ABC1), member 3 ATP binding cassette subfamily A 805 1996-08-08 2015-11-13 2021-05-26 21 ENSG00000167972 OTTHUMG00000128845 uc002cpy.2 U78735 NM_001089 CCDS10466 Q99758 8706931 MGI:1351617 RGD:1307174 601615 140560 objectId:758 HGNC:33 "ENST00000301732.10|NM_001089.3" HGNC:33 +HGNC:55707 ABCA3P1 ABCA3 pseudogene 1 pseudogene pseudogene Approved 16p12.2 16p12.2 2021-07-05 2021-07-05 342293 ENSG00000257408 NG_022511 +HGNC:34 ABCA4 ATP binding cassette subfamily A member 4 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "FFM|ARMD2|CORD3" Stargardt disease "STGD1|ABCR|RP19|STGD" "ATP-binding cassette transporter, retinal-specific|ATP-binding cassette, sub-family A (ABC1), member 4" ATP binding cassette subfamily A 805 1994-07-14 2015-11-13 2021-05-26 24 ENSG00000198691 OTTHUMG00000010622 uc001dqh.4 U88667 NM_000350 CCDS747 P78363 9490294 MGI:109424 RGD:1309445 Mutations of the ATP-binding Cassette Transporter Retina|http://www.retina-international.org/files/sci-news/abcrmut.htm 601691 117623 objectId:759 HGNC:34 "ENST00000370225.4|NM_000350.3" HGNC:34 +HGNC:35 ABCA5 ATP binding cassette subfamily A member 5 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 EST90625 ATP-binding cassette, sub-family A (ABC1), member 5 ATP binding cassette subfamily A 805 1999-10-26 2015-11-13 2021-05-26 23461 ENSG00000154265 OTTHUMG00000180303 uc002jig.3 U66672 NM_018672 CCDS11685 Q8WWZ7 8894702 MGI:2386607 RGD:628661 612503 404800 objectId:760 HGNC:35 "ENST00000392676.8|NM_172232.4" HGNC:35 +HGNC:36 ABCA6 ATP binding cassette subfamily A member 6 protein-coding gene gene with protein product Approved 17q24.2-q24.3 17q24.2-q24.3 EST155051 ATP-binding cassette, sub-family A (ABC1), member 6 "ATP binding cassette subfamily A|MicroRNA protein coding host genes" "805|1691" 1999-10-26 2015-11-13 2020-09-17 23460 ENSG00000154262 OTTHUMG00000180258 uc002jhw.2 U66680 NM_080284 CCDS11683 Q8N139 8894702 MGI:1923434 RGD:1308998 612504 objectId:761 HGNC:36 "ENST00000284425.7|NM_080284.3" +HGNC:37 ABCA7 ATP binding cassette subfamily A member 7 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ABCX ATP-binding cassette, sub-family A (ABC1), member 7 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2020-09-17 10347 ENSG00000064687 OTTHUMG00000167547 uc002lqw.5 AF328787 NM_019112 CCDS12055 Q8IZY2 "10873640|11435699|12917409" MGI:1351646 RGD:1303134 605414 objectId:762 HGNC:37 "ENST00000263094.11|NM_019112.4" +HGNC:38 ABCA8 ATP binding cassette subfamily A member 8 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 KIAA0822 ATP-binding cassette, sub-family A (ABC1), member 8 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2020-09-17 10351 ENSG00000141338 OTTHUMG00000180192 uc002jhq.5 AB020629 NM_007168 "CCDS11680|CCDS74138|CCDS74139" O94911 "12379217|23560799" "MGI:1351668|MGI:2386846" RGD:1307069 612505 objectId:763 HGNC:38 "ENST00000586539.6|NM_001288985.2" +HGNC:39 ABCA9 ATP binding cassette subfamily A member 9 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 EST640918 ATP-binding cassette, sub-family A (ABC1), member 9 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2020-09-17 10350 ENSG00000154258 OTTHUMG00000140371 uc002jhu.4 AF423307 NM_172386 CCDS11681 Q8IUA7 12150964 MGI:2386796 RGD:1305931 612507 objectId:764 HGNC:39 "ENST00000340001.9|NM_080283.4" +HGNC:39983 ABCA9-AS1 ABCA9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q24.2 17q24.2 ABCA9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 104355297 ENSG00000231749 OTTHUMG00000140370 uc060jgk.1 NR_126414 ABCA9-AS1 HGNC:39983 +HGNC:30 ABCA10 ATP binding cassette subfamily A member 10 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 EST698739 ATP-binding cassette, sub-family A (ABC1), member 10 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2020-09-17 10349 ENSG00000154263 OTTHUMG00000164716 uc010dfa.2 AY247065 NM_080282 CCDS11684 Q8WWZ4 "12821155|11435397" 612508 469886 objectId:765 HGNC:30 "ENST00000690296.1|NM_001377321.1" +HGNC:31 ABCA11P ATP binding cassette subfamily A member 11, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 "EST1133530|FLJ14297" ABCA11 ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene ATP binding cassette subfamily A 805 1999-06-11 2008-09-09 2015-11-13 2015-11-13 79963 ENSG00000251595 OTTHUMG00000159884 AK024359 NR_002451.2 PGOHUM00000245425 HGNC:31 +HGNC:14637 ABCA12 ATP binding cassette subfamily A member 12 protein-coding gene gene with protein product Approved 2q35 02q35 "DKFZP434G232|LI2" ICR2B "ichthyosis congenita II, lamellar ichthyosis B|ATP-binding cassette, sub-family A (ABC1), member 12" ATP binding cassette subfamily A 805 2001-08-16 2015-11-13 2021-05-26 26154 ENSG00000144452 OTTHUMG00000154801 uc002vew.3 AF418105 NM_173076 "CCDS33372|CCDS33373" Q86UK0 "11435397|12915478|8845852|10094194" MGI:2676312 RGD:1304586 607800 117620 objectId:766 HGNC:14637 "ENST00000272895.12|NM_173076.3" HGNC:14637 +HGNC:14638 ABCA13 ATP binding cassette subfamily A member 13 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "FLJ33876|FLJ33951" ATP-binding cassette, sub-family A (ABC1), member 13 ATP binding cassette subfamily A 805 2004-12-21 2015-11-13 2021-05-26 154664 ENSG00000179869 OTTHUMG00000155840 uc003toq.2 AY204751 NM_152701 CCDS47584 Q86UQ4 12697998 MGI:2388707 RGD:1305895 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ABCA13 607807 objectId:767 HGNC:14638 "ENST00000435803.6|NM_152701.5" HGNC:14638 +HGNC:32972 ABCA17P ATP binding cassette subfamily A member 17, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene ATP binding cassette subfamily A 805 2006-09-19 2015-11-13 2020-08-13 650655 ENSG00000238098 OTTHUMG00000154348 DQ266102 NR_003574 16968533 MGI:3625331 PGOHUM00000250669 HGNC:32972 +HGNC:40 ABCB1 ATP binding cassette subfamily B member 1 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "P-gp|CD243|GP170|ABC20|p-170|PGY1" "multidrug resistance protein 1|P-glycoprotein" "PGY1|MDR1|CLCS" "colchicin sensitivity|ATP-binding cassette, sub-family B (MDR/TAP), member 1" "CD molecules|ATP binding cassette subfamily B" "471|806" 1986-01-01 2015-11-13 2022-02-11 5243 ENSG00000085563 OTTHUMG00000023393 uc003uiz.3 M14758 NM_000927 CCDS5608 P08183 3027054 MGI:97570 RGD:619951 171050 318801 objectId:768 CD243 HGNC:40 "ENST00000622132.5|NM_001348946.2" +HGNC:45 ABCB4 ATP binding cassette subfamily B member 4 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "MDR2|PFIC-3|GBD1" "PGY3|MDR3" ATP-binding cassette, sub-family B (MDR/TAP), member 4 ATP binding cassette subfamily B 806 1988-05-11 2015-11-13 2021-05-26 5244 ENSG00000005471 OTTHUMG00000023396 uc003uix.1 M23234 NM_000443 "CCDS5605|CCDS5607|CCDS5606" P21439 "2892668|11313316" MGI:97569 RGD:620248 171060 117639 objectId:771 HGNC:45 "ENST00000649586.2|NM_000443.4" HGNC:45 +HGNC:46 ABCB5 ATP binding cassette subfamily B member 5 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "EST422562|ABCB5beta|ABCB5alpha" "P-glycoprotein ABCB5|ATP-binding cassette protein" ATP-binding cassette, sub-family B (MDR/TAP), member 5 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2020-09-17 340273 ENSG00000004846 OTTHUMG00000094789 uc010kuh.4 U66692 NM_178559 "CCDS5371|CCDS55092|CCDS55090|CCDS55091" Q2M3G0 "8894702|12960149" MGI:1924956 RGD:1566342 611785 objectId:772 HGNC:46 "ENST00000404938.7|NM_001163941.2" +HGNC:47 ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) protein-coding gene gene with protein product Approved 2q35 02q35 "EST45597|umat|MTABC3" ATP-binding cassette half-transporter "ATP-binding cassette, sub-family B (MDR/TAP), member 6|ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)" "Blood group antigens|ATP binding cassette subfamily B" "454|806" 1999-10-26 2015-11-13 2021-05-26 10058 ENSG00000115657 OTTHUMG00000133131 uc002vkc.3 AF070598 NM_005689 "CCDS86920|CCDS2436" Q9NP58 "8894702|9110174" MGI:1921354 RGD:71077 LRG_824|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_824.xml 605452 291794 objectId:773 HGNC:47 "ENST00000265316.9|NM_005689.4" HGNC:47 +HGNC:48 ABCB7 ATP binding cassette subfamily B member 7 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "EST140535|Atm1p|ASAT" ABC7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 ATP binding cassette subfamily B 806 1997-09-12 2015-11-13 2021-05-26 22 ENSG00000131269 OTTHUMG00000021862 uc004ebz.5 AF038950 NM_004299 "CCDS65291|CCDS75994|CCDS65290|CCDS14428" O75027 9143506 MGI:109533 RGD:1303086 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ABCB7|LRG_1162|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1162.xml" 300135 117646 objectId:774 HGNC:48 "ENST00000373394.8|NM_001271696.3" HGNC:48 +HGNC:49 ABCB8 ATP binding cassette subfamily B member 8 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "EST328128|M-ABC1|MABC1|MITOSUR" mitochondrial ABC protein ATP-binding cassette, sub-family B (MDR/TAP), member 8 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2020-09-17 11194 ENSG00000197150 OTTHUMG00000158686 uc003wik.6 AF047690 NM_007188 "CCDS64800|CCDS5913|CCDS64799|CCDS64798" Q9NUT2 8894702 MGI:1351667 RGD:1307655 605464 469888 objectId:775 HGNC:49 "ENST00000358849.9|NM_007188.5" +HGNC:50 ABCB9 ATP binding cassette subfamily B member 9 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 EST122234 ATP-binding cassette, sub-family B (MDR/TAP), member 9 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2020-09-17 23457 ENSG00000150967 OTTHUMG00000168769 uc058upb.1 U66676 NM_019624 "CCDS58286|CCDS58287|CCDS58288|CCDS9241" Q9NP78 8894702 MGI:1861729 RGD:620254 605453 objectId:776 HGNC:50 "ENST00000280560.13|NM_019625.4" +HGNC:41 ABCB10 ATP binding cassette subfamily B member 10 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "EST20237|M-ABC2|MTABC2" "ATP-binding cassette sub-family B member 10, mitochondrial|ATP-binding cassette transporter 10|ABC transporter 10 protein|mitochondrial ATP-binding cassette 2" ATP-binding cassette, sub-family B (MDR/TAP), member 10 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2020-09-17 23456 ENSG00000135776 OTTHUMG00000039471 uc001htp.4 U18237 NM_012089 CCDS1580 Q9NRK6 7766993 MGI:1860508 RGD:1311222 605454 objectId:777 HGNC:41 "ENST00000344517.5|NM_012089.3" +HGNC:14114 ABCB10P1 ABCB10 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 "M-ABC2|MABC2" "ABCB10P|ABCB10P2" "ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene|ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 2|ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1|ATP binding cassette subfamily B member 10 pseudogene 1" 2001-07-13 2008-09-09 2018-05-23 2018-05-23 56476 ENSG00000274099 OTTHUMG00000188344 AF218417 NG_005041 "7766993|10922475" PGOHUM00000293137 HGNC:14114 +HGNC:31129 ABCB10P3 ABCB10 pseudogene 3 pseudogene pseudogene Approved 15q13.1 15q13.1 "ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 3|ATP binding cassette subfamily B member 10 pseudogene 3" 2010-06-17 2018-05-23 2018-05-23 728248 ENSG00000261524 OTTHUMG00000175874 NG_022122 PGOHUM00000293151 HGNC:31129 +HGNC:31130 ABCB10P4 ABCB10 pseudogene 4 pseudogene pseudogene Approved 15q13.1 15q13.1 "ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 4|ATP binding cassette subfamily B member 10 pseudogene 4" 2010-06-17 2018-05-23 2018-05-23 100132289 ENSG00000260053 OTTHUMG00000175877 NG_022102 PGOHUM00000292862 HGNC:31130 +HGNC:42 ABCB11 ATP binding cassette subfamily B member 11 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "ABC16|SPGP|PFIC-2|PGY4" ABC member 16, MDR/TAP subfamily "BSEP|PFIC2" "progressive familial intrahepatic cholestasis 2|bile salt export pump|ATP-binding cassette, sub-family B (MDR/TAP), member 11" ATP binding cassette subfamily B 806 1998-09-25 2015-11-13 2021-05-26 8647 ENSG00000073734 OTTHUMG00000154039 uc002ueo.2 AF091582 NM_003742 CCDS46444 O95342 9806540 MGI:1351619 RGD:619930 "CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=ABCB11|LRG_1199|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1199.xml" 603201 117631 objectId:778 HGNC:42 "ENST00000650372.1|NM_003742.4" HGNC:42 +HGNC:51 ABCC1 ATP binding cassette subfamily C member 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 GS-X glutathione S-conjugate export pump "MRP|MRP1" "multidrug resistance associated protein 1|ATP-binding cassette, sub-family C (CFTR/MRP), member 1" ATP binding cassette subfamily C 807 1993-06-29 2015-11-13 2021-05-26 4363 ENSG00000103222 OTTHUMG00000048267 uc010bvi.4 L05628 NM_004996 CCDS42122 P33527 "8098549|1360704" MGI:102676 RGD:3112 158343 469890 objectId:779 HGNC:51 "ENST00000399410.8|NM_004996.4" HGNC:51 +HGNC:53 ABCC2 ATP binding cassette subfamily C member 2 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "DJS|MRP2|cMRP" CMOAT "canalicular multispecific organic anion transporter 1|ATP-binding cassette, sub-family C (CFTR/MRP), member 2" ATP binding cassette subfamily C 807 1997-05-09 2015-11-13 2021-05-26 1244 ENSG00000023839 OTTHUMG00000018895 uc001kqf.3 U63970 NM_000392 CCDS7484 Q92887 "8797578|9284939" MGI:1352447 RGD:2366 LRG_1208|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1208.xml 601107 117652 objectId:780 HGNC:53 "ENST00000647814.1|NM_000392.5" HGNC:53 +HGNC:54 ABCC3 ATP binding cassette subfamily C member 3 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "MRP3|cMOAT2|EST90757|MLP2|MOAT-D" canalicular multispecific organic anion transporter 2 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2020-09-17 8714 ENSG00000108846 OTTHUMG00000162245 uc002isl.4 Y17151 NM_020038 "CCDS32681|CCDS45739" O15438 "8894702|9827529" MGI:1923658 RGD:71101 604323 469892 objectId:781 HGNC:54 "ENST00000285238.13|NM_003786.4" +HGNC:55 ABCC4 ATP binding cassette subfamily C member 4 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "MRP4|EST170205|MOAT-B|MOATB" "canalicular multispecific organic anion transporter (ABC superfamily)|bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)|multidrug resistance-associated protein 4|multispecific organic anion transporter B" ATP-binding cassette, sub-family C (CFTR/MRP), member 4 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2021-05-26 10257 ENSG00000125257 OTTHUMG00000017216 uc001vmd.5 U66682 NM_005845 "CCDS45061|CCDS9474|CCDS76643|CCDS86356" O15439 "8894702|9661885" MGI:2443111 RGD:620266 LRG_1183|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1183.xml 605250 469894 objectId:782 HGNC:55 "ENST00000645237.2|NM_005845.5" +HGNC:56 ABCC5 ATP binding cassette subfamily C member 5 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "MRP5|SMRP|EST277145|MOAT-C" ATP-binding cassette, sub-family C (CFTR/MRP), member 5 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2020-09-17 10057 ENSG00000114770 OTTHUMG00000156871 uc003fmg.4 AF104942 NM_005688 "CCDS33898|CCDS43176" O15440 "8894702|9827529" MGI:1351644 RGD:70913 605251 objectId:783 HGNC:56 "ENST00000334444.11|NM_005688.4" +HGNC:40055 ABCC5-AS1 ABCC5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 ABCC5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 100873982 ENSG00000223882 OTTHUMG00000156870 uc031scp.1 NR_046570 ABCC5-AS1 HGNC:40055 +HGNC:57 ABCC6 ATP binding cassette subfamily C member 6 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "MRP6|EST349056|MLP1|URG7" "ARA|PXE" "pseudoxanthoma elasticum|ATP-binding cassette, sub-family C (CFTR/MRP), member 6" ATP binding cassette subfamily C 807 1997-10-27 2015-11-13 2021-05-26 368 ENSG00000091262 OTTHUMG00000129967 uc002den.5 AF076622 NM_001079528 "CCDS10568|CCDS58430" O95255 "9721217|11439001" MGI:1351634 RGD:620268 "Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)|http://www.retina-international.org/files/sci-news/abcc6mut.htm|LOVD at NCBI|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6|LRG_1115|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1115.xml" 603234 117658 objectId:784 HGNC:57 "ENST00000205557.12|NM_001171.6" HGNC:57 +HGNC:33352 ABCC6P1 ATP binding cassette subfamily C member 6 pseudogene 1 pseudogene pseudogene Approved 16p12.3 16p12.3 "ATP-binding cassette, sub-family C, member 6 pseudogene 1|ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)|ATP binding cassette subfamily C member 6 pseudogene 1 (functional)" 2007-02-23 2016-01-29 2016-08-22 653190 ENSG00000256340 OTTHUMG00000177192 BC075833 NR_003569 "18405356|22873774" PGOHUM00000307541 HGNC:33352 +HGNC:33353 ABCC6P2 ATP binding cassette subfamily C member 6 pseudogene 2 pseudogene pseudogene Approved 16p13.11 16p13.11 ATP-binding cassette, sub-family C, member 6 pseudogene 2 2007-02-23 2015-11-13 2016-08-22 730013 ENSG00000255277 OTTHUMG00000166266 NR_023387 22873774 PGOHUM00000293430 HGNC:33353 +HGNC:59 ABCC8 ATP binding cassette subfamily C member 8 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "HI|PHHI|SUR1|MRP8|ABC36|HHF1|TNDM2" sulfonylurea receptor (hyperinsulinemia) "SUR|HRINS" ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ATP binding cassette subfamily C 807 1995-01-10 2015-11-13 2021-05-26 6833 ENSG00000006071 OTTHUMG00000166316 uc001mnc.4 L78207 NM_000352 "CCDS86183|CCDS86185|CCDS31437|CCDS86184|CCDS73264" Q09428 "7920639|7716548" MGI:1352629 RGD:3786 LRG_790|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_790.xml 600509 117665 objectId:2594 HGNC:59 "ENST00000389817.8|NM_000352.6" HGNC:59 +HGNC:60 ABCC9 ATP binding cassette subfamily C member 9 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "SUR2|CMD1O" sulfonylurea receptor 2 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2021-05-26 10060 ENSG00000069431 OTTHUMG00000169094 uc001rfi.2 AF061323 NM_005691 "CCDS8694|CCDS8693" O60706 "9457174|15034580" MGI:1352630 RGD:3787 LRG_377|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_377.xml 601439 117673 objectId:2746 HGNC:60 "ENST00000261200.9|NM_020297.4" HGNC:60 +HGNC:52 ABCC10 ATP binding cassette subfamily C member 10 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "EST182763|MRP7|SIMRP7" ATP-binding cassette, sub-family C (CFTR/MRP), member 10 "ATP binding cassette subfamily C|MicroRNA protein coding host genes" "807|1691" 1999-10-26 2015-11-13 2020-09-17 89845 ENSG00000124574 OTTHUMG00000014733 uc003ouz.1 U66684 NM_033450 "CCDS56430|CCDS4896" Q5T3U5 8894702 MGI:2386976 RGD:1306696 612509 objectId:785 HGNC:52 "ENST00000372530.9|NM_001198934.2" +HGNC:14639 ABCC11 ATP binding cassette subfamily C member 11 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 MRP8 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 ATP binding cassette subfamily C 807 2001-06-01 2015-11-13 2016-10-05 85320 ENSG00000121270 OTTHUMG00000133146 uc059txd.1 AF367202 NM_032583 "CCDS10733|CCDS10732" Q96J66 "11483364|11435397" 607040 objectId:786 HGNC:14639 "ENST00000356608.7|NM_001370497.1" +HGNC:14640 ABCC12 ATP binding cassette subfamily C member 12 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 MRP9 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 ATP binding cassette subfamily C 807 2001-08-16 2015-11-13 2015-11-13 94160 ENSG00000140798 OTTHUMG00000133143 uc002efc.1 AY040220 NM_033226 CCDS10730 Q96J65 "11435397|11483364" MGI:2441679 RGD:735100 607041 objectId:787 HGNC:14640 "ENST00000311303.8|NM_001393797.1" +HGNC:16022 ABCC13 ATP binding cassette subfamily C member 13 (pseudogene) pseudogene pseudogene Approved 21q11.2 21q11.2 "PRED6|C21orf73|ABCC13P" ATP-binding cassette, sub-family C (CFTR/MRP), member 13 ATP binding cassette subfamily C 807 2002-11-11 2016-01-06 2018-10-17 150000 ENSG00000243064 OTTHUMG00000074257 AF418600 NR_003087 "12445816|15203202" 608835 PGOHUM00000258120 HGNC:16022 +HGNC:61 ABCD1 ATP binding cassette subfamily D member 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "AMN|ALDP|adrenoleukodystrophy" ALD ATP-binding cassette, sub-family D (ALD), member 1 ATP binding cassette subfamily D 808 1986-01-01 2015-11-13 2021-05-26 215 ENSG00000101986 OTTHUMG00000024215 uc004fif.2 Z21876 NM_000033 CCDS14728 P33897 "8441467|6795626" MGI:1349215 RGD:1562128 "X-linked Adrenoleukodystrophy Database|http://www.x-ald.nl|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ABCD1|LRG_1017|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1017.xml" 300371 117677 objectId:788 HGNC:61 "ENST00000218104.6|NM_000033.4" HGNC:61 +HGNC:62 ABCD1P1 ATP binding cassette subfamily D member 1 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 1999-10-29 2015-11-13 2020-04-07 23785 U90290 NG_001246 "8829626|9215666" PGOHUM00000297984 HGNC:62 +HGNC:63 ABCD1P2 ATP binding cassette subfamily D member 1 pseudogene 2 pseudogene pseudogene Approved 10p11.1 10p11.1 bA453N3.6 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 1999-12-17 2015-11-13 2015-11-13 26983 ENSG00000215151 OTTHUMG00000018003 U90288 NG_001270 9215666 PGOHUM00000238740 HGNC:63 +HGNC:64 ABCD1P3 ATP binding cassette subfamily D member 1 pseudogene 3 pseudogene pseudogene Approved 16p11.2 16p11.2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 3 1999-12-17 2015-11-13 2015-11-13 26982 ENSG00000261233 OTTHUMG00000176500 U90289 NG_001269 9215666 PGOHUM00000259051 HGNC:64 +HGNC:65 ABCD1P4 ATP binding cassette subfamily D member 1 pseudogene 4 pseudogene pseudogene Approved 22q11.1 22q11.1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 1999-12-17 2015-11-13 2015-11-13 26957 ENSG00000225293 OTTHUMG00000030330 U90291 NG_001265 "9215666|10591208" PGOHUM00000246377 HGNC:65 +HGNC:42662 ABCD1P5 ATP binding cassette subfamily D member 1 pseudogene 5 pseudogene pseudogene Approved 2p11.1 02p11.1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 5 2011-08-12 2015-11-13 2015-11-13 642762 ENSG00000214330 OTTHUMG00000155089 NG_006974 PGOHUM00000240771 HGNC:42662 +HGNC:66 ABCD2 ATP binding cassette subfamily D member 2 protein-coding gene gene with protein product Approved 12q12 12q12 "ALDR|ALDRP" ALDL1 ATP-binding cassette, sub-family D (ALD), member 2 ATP binding cassette subfamily D 808 1997-10-10 2015-11-13 2020-09-17 225 ENSG00000173208 OTTHUMG00000169337 uc001rmb.3 U28150 NM_005164 CCDS8734 Q9UBJ2 8577752 MGI:1349467 RGD:69244 601081 469896 objectId:789 HGNC:66 "ENST00000308666.4|NM_005164.4" +HGNC:67 ABCD3 ATP binding cassette subfamily D member 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "PMP70|ZWS2" peroxisomal membrane protein 70 kDa PXMP1 "ATP-binding cassette, sub-family D (ALD), member 3|peroxisomal membrane protein 1 (70kD, Zellweger syndrome)" "ATP binding cassette subfamily D|GOLD domain containing" "808|1062" 1992-03-03 2015-11-13 2021-05-26 5825 ENSG00000117528 OTTHUMG00000010717 uc001dqn.5 M81182 NM_002858 "CCDS44175|CCDS749" P28288 "1301993|8449508" MGI:1349216 RGD:2007 170995 469898 objectId:790 HGNC:67 "ENST00000370214.9|NM_002858.4" HGNC:67 +HGNC:68 ABCD4 ATP binding cassette subfamily D member 4 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "PMP69|P70R|EST352188" PXMP1L ATP-binding cassette, sub-family D (ALD), member 4 ATP binding cassette subfamily D 808 1997-10-27 2015-11-13 2021-05-26 5826 ENSG00000119688 OTTHUMG00000171207 uc001xpr.3 AF009746 NM_005050 CCDS9828 O14678 "9266848|9302272" MGI:1349217 RGD:1307273 603214 315413 HGNC:68 "ENST00000356924.9|NM_005050.4" HGNC:68 +HGNC:69 ABCE1 ATP binding cassette subfamily E member 1 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "RLI|OABP|RLI1" RNase L inhibitor 1 "RNASEL1|RNASELI|RNS4I" ATP-binding cassette, sub-family E (OABP), member 1 ATP binding cassette subfamily E 809 1995-11-01 2015-11-13 2020-09-17 6059 ENSG00000164163 OTTHUMG00000161478 uc003ijy.4 X74987 NM_002940 CCDS34071 P61221 7539425 MGI:1195458 RGD:1305301 601213 HGNC:69 "ENST00000296577.9|NM_002940.3" +HGNC:70 ABCF1 ATP binding cassette subfamily F member 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 EST123147 ABC50 ATP-binding cassette, sub-family F (GCN20), member 1 "ATP binding cassette subfamily F|MicroRNA protein coding host genes" "810|1691" 1998-04-07 2015-11-13 2020-09-17 23 ENSG00000204574 OTTHUMG00000031094 uc003nql.4 AF027302 NM_001025091 "CCDS34381|CCDS34380" Q8NE71 9790762 MGI:1351658 RGD:620286 603429 HGNC:70 "ENST00000326195.13|NM_001025091.2" +HGNC:53628 ABCF1-DT ABCF1 divergent transcript non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 Divergent transcripts 1990 2017-08-03 2017-08-03 107986587 XR_001756540 HGNC:53628 +HGNC:71 ABCF2 ATP binding cassette subfamily F member 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "EST133090|ABC28|M-ABC1|HUSSY-18" ATP-binding cassette, sub-family F (GCN20), member 2 ATP binding cassette subfamily F 810 1999-10-26 2015-11-13 2020-09-17 10061 ENSG00000033050 OTTHUMG00000154570 uc003wjp.5 AJ005016 NM_005692 CCDS5923 Q9UG63 8894702 MGI:1351657 RGD:1304942 612510 HGNC:71 "ENST00000287844.7|NM_007189.3" +HGNC:54751 ABCF2-H2BK1 ABCF2-H2BK1 readthrough other readthrough Approved 7q36.1 07q36.1 ABCF2-H2BE1 ABCF2-H2BE1 readthrough 2020-01-06 2021-10-18 2021-10-18 2021-10-18 114483834 ENSG00000285292 NM_005692 CCDS5922 +HGNC:48841 ABCF2P1 ATP binding cassette subfamily F member 2 pseudogene 1 pseudogene pseudogene Approved 3p11.1 03p11.1 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 1 2013-06-19 2015-11-13 2015-11-13 344653 ENSG00000242159 OTTHUMG00000159043 NG_022253 PGOHUM00000238094 HGNC:48841 +HGNC:48842 ABCF2P2 ATP binding cassette subfamily F member 2 pseudogene 2 pseudogene pseudogene Approved 7q11.22 07q11.22 ATP-binding cassette, sub-family F (GCN20), member 2 pseudogene 2 2013-06-19 2015-11-13 2015-11-13 100422059 ENSG00000228769 OTTHUMG00000156669 NG_026596 PGOHUM00000233410 HGNC:48842 +HGNC:72 ABCF3 ATP binding cassette subfamily F member 3 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 EST201864 ATP-binding cassette, sub-family F (GCN20), member 3 ATP binding cassette subfamily F 810 1999-10-26 2015-11-13 2020-09-17 55324 ENSG00000161204 OTTHUMG00000156824 uc003fmz.3 U66685 NM_018358 "CCDS3254|CCDS87173" Q9NUQ8 8894702 MGI:1351656 RGD:1310468 618967 HGNC:72 "ENST00000429586.7|NM_018358.3" +HGNC:73 ABCG1 ATP binding cassette subfamily G member 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 ABC8 ATP-binding cassette transporter 8 ATP-binding cassette, sub-family G (WHITE), member 1 ATP binding cassette subfamily G 811 1999-10-26 2015-11-13 2020-09-17 9619 ENSG00000160179 OTTHUMG00000086791 uc002zaq.4 U34919 NM_207174 "CCDS42937|CCDS13681|CCDS13682|CCDS13683|CCDS42938" P45844 "8659545|16870176" MGI:107704 RGD:620294 603076 objectId:791 HGNC:73 "ENST00000398449.8|NM_016818.3" +HGNC:74 ABCG2 ATP binding cassette subfamily G member 2 (Junior blood group) protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "EST157481|MXR|BCRP|ABCP|CD338" "ATP-binding cassette, sub-family G (WHITE), member 2|ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)" "Blood group antigens|CD molecules|ATP binding cassette subfamily G" "454|471|811" 1999-10-26 2015-11-13 2021-05-26 9429 ENSG00000118777 OTTHUMG00000130601 uc003hrg.4 AF103796 NM_004827 "CCDS3628|CCDS58910" Q9UNQ0 "8894702|9861027" MGI:1347061 RGD:631345 LRG_823|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_823.xml 603756 469900 objectId:792 CDw338 HGNC:74 "ENST00000237612.8|NM_004827.3" +HGNC:13884 ABCG4 ATP binding cassette subfamily G member 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 WHITE2 "putative ABC transporter|ATP-binding cassette, subfamily G, member 4" ATP-binding cassette, sub-family G (WHITE), member 4 ATP binding cassette subfamily G 811 2001-08-16 2015-11-13 2016-10-05 64137 ENSG00000172350 OTTHUMG00000166169 uc031yhk.2 AJ300465 NM_022169 CCDS8415 Q9H172 11435397 MGI:1890594 RGD:1305840 607784 objectId:793 HGNC:13884 "ENST00000619701.5|NM_022169.5" +HGNC:13886 ABCG5 ATP binding cassette subfamily G member 5 protein-coding gene gene with protein product Approved 2p21 02p21 STSL sterolin 1 ATP-binding cassette, sub-family G (WHITE), member 5 ATP binding cassette subfamily G 811 2000-12-12 2015-11-13 2021-05-26 64240 ENSG00000138075 OTTHUMG00000128758 uc002rtn.3 T93792 NM_022436 CCDS1814 Q9H222 "11099417|11452359" MGI:1351659 RGD:620298 LRG_1181|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1181.xml 605459 117683 objectId:794 HGNC:13886 "ENST00000405322.8|NM_022436.3" HGNC:13886 +HGNC:13887 ABCG8 ATP binding cassette subfamily G member 8 protein-coding gene gene with protein product Approved 2p21 02p21 GBD4 "gallbladder disease 4|sterolin 2" "ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)|ATP-binding cassette, sub-family G (WHITE), member 8" ATP binding cassette subfamily G 811 2000-12-12 2015-11-13 2021-05-26 64241 ENSG00000143921 OTTHUMG00000128756 uc002rtq.3 AF320294 NM_022437 CCDS1815 Q9H221 "11099417|17626266" MGI:1914720 RGD:620300 LRG_1182|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1182.xml 605460 117685 objectId:795 HGNC:13887 "ENST00000272286.4|NM_022437.3" HGNC:13887 +HGNC:17553 ABHD1 abhydrolase domain containing 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "LABH1|FLJ36128" Abhydrolase domain containing 4 2002-06-20 2014-11-19 84696 ENSG00000143994 OTTHUMG00000097072 uc002rit.4 AK093447 NM_032604 CCDS1736 Q96SE0 11922611 MGI:1931013 RGD:1310988 612195 HGNC:17553 "ENST00000316470.9|NM_032604.4" +HGNC:18717 ABHD2 abhydrolase domain containing 2, acylglycerol lipase protein-coding gene gene with protein product Approved 15q26.1 15q26.1 LABH2 abhydrolase domain containing 2 Abhydrolase domain containing 4 2002-06-20 2020-01-21 2020-01-21 11057 ENSG00000140526 OTTHUMG00000148684 uc002bnk.2 X12433 NM_007011 CCDS10348 P08910 "27247428|28684316|26989199" MGI:1914344 RGD:1311389 612196 S33.019 objectId:3147 HGNC:18717 "ENST00000352732.10|NM_152924.5" +HGNC:18718 ABHD3 abhydrolase domain containing 3, phospholipase protein-coding gene gene with protein product Approved 18q11.2 18q11.2 LABH3 abhydrolase domain containing 3 Abhydrolase domain containing 4 2002-06-20 2020-01-21 2020-01-21 171586 ENSG00000158201 OTTHUMG00000179099 uc002ktl.2 AK024880 NM_001308256 "CCDS77160|CCDS32802|CCDS77159" Q8WU67 21926997 MGI:2147183 RGD:1310655 612197 HGNC:18718 "ENST00000289119.7|NM_138340.5" +HGNC:20154 ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ12816 abhydrolase domain containing 4 Abhydrolase domain containing 4 2002-12-18 2020-01-21 2020-01-21 63874 ENSG00000100439 OTTHUMG00000028686 uc001wgm.4 AK022878 NM_001392009 CCDS9572 Q8TB40 "25853435|16818490" MGI:1915938 RGD:1311858 619728 S33.013 HGNC:20154 "ENST00000428304.7|NM_022060.3" +HGNC:21396 ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase protein-coding gene gene with protein product Approved 3p21.33 03p21.33 "CGI-58|NCIE2" abhydrolase domain containing 5 Abhydrolase domain containing 4 2003-06-16 2020-01-21 2021-05-26 51099 ENSG00000011198 OTTHUMG00000133039 uc003cmx.4 AF007132 NM_016006 CCDS2711 Q8WTS1 "11590543|18606822|19801371" MGI:1914719 RGD:1303237 LRG_1174|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1174.xml 604780 117687 S33.975 HGNC:21396 "ENST00000644371.2|NM_016006.6" HGNC:21396 +HGNC:21398 ABHD6 abhydrolase domain containing 6, acylglycerol lipase protein-coding gene gene with protein product Approved 3p14.3 03p14.3 abhydrolase domain containing 6 Abhydrolase domain containing 4 2003-06-13 2020-01-21 2020-01-21 57406 ENSG00000163686 OTTHUMG00000159150 uc003djt.5 AF225418 NM_020676 CCDS2887 Q9BV23 "22969151|25504894|26491015|24095738" MGI:1913332 RGD:1359323 616966 objectId:2919 3.1.1.23 HGNC:21398 "ENST00000478253.6|NM_001320126.2" +HGNC:23759 ABHD8 abhydrolase domain containing 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ11743|MGC14280|MGC2512" Abhydrolase domain containing 4 2003-12-08 2016-10-05 79575 ENSG00000127220 OTTHUMG00000182663 uc002ngb.4 AK021805 NM_024527 CCDS12355 Q96I13 12477932 MGI:1918946 RGD:1305693 S33.011 HGNC:23759 "ENST00000247706.4|NM_024527.5" +HGNC:25656 ABHD10 abhydrolase domain containing 10, depalmitoylase protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ11342 Mycophenolic acid acyl-glucuronide esterase, mitochondrial abhydrolase domain containing 10 Abhydrolase domain containing 4 2005-01-24 2020-01-21 2020-03-09 55347 ENSG00000144827 OTTHUMG00000159280 uc003dyk.6 AL713726 NM_018394 "CCDS2963|CCDS63718" Q9NUJ1 "22294686|25217485" MGI:2442422 RGD:1308084 618756 S09.062 HGNC:25656 "ENST00000273359.8|NM_018394.4" +HGNC:16407 ABHD11 abhydrolase domain containing 11 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 PP1226 WBSCR21 Williams Beuren syndrome chromosome region 21 Abhydrolase domain containing 4 2001-08-24 2005-01-27 2005-01-24 2019-09-03 83451 ENSG00000106077 OTTHUMG00000130029 uc003tzb.4 AF217971 NM_001145364 "CCDS5558|CCDS47607|CCDS47608|CCDS75615" Q8NFV4 "28465236|12073013" MGI:1916008 RGD:1304681 S33.976 HGNC:16407 "ENST00000222800.8|NM_148912.4" +HGNC:18289 ABHD11-AS1 ABHD11 antisense RNA 1 (tail to tail) non-coding RNA RNA, long non-coding Approved 7q11.23 07q11.23 NCRNA00035 non-protein coding RNA 35 "WBSCR26|LINC00035" "Williams Beuren syndrome chromosome region 26|Williams Beuren syndrome chromosome region 26 (non-protein coding)|long intergenic non-protein coding RNA 35" Antisense RNAs 1987 2002-03-05 2014-07-08 2014-07-08 2017-10-13 171022 ENSG00000225969 OTTHUMG00000153263 BU595969 NR_026690 "24984296|25619660|28157695" RGD:1585479 612545 ABHD11-AS1 HGNC:18289 +HGNC:15868 ABHD12 abhydrolase domain containing 12, lysophospholipase protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "DKFZP434P106|dJ965G21.2|BEM46L2|ABHD12A" C20orf22 "chromosome 20 open reading frame 22|abhydrolase domain containing 12" Abhydrolase domain containing 4 2001-06-21 2006-03-10 2020-01-21 2021-05-26 26090 ENSG00000100997 OTTHUMG00000032121 uc002wus.3 AL117442 NM_015600 "CCDS42857|CCDS13172" Q8N2K0 "22969151|25290914|30237167|24879289" MGI:1923442 RGD:1562570 613599 239970 S09.054 objectId:3070 3.1.1.23 HGNC:15868 "ENST00000339157.10|NM_001042472.3" HGNC:15868 +HGNC:19837 ABHD12B abhydrolase domain containing 12B protein-coding gene gene with protein product Approved 14q22.1 14q22.1 BEM46L3 C14orf29 chromosome 14 open reading frame 29 Abhydrolase domain containing 4 2002-11-27 2007-04-03 2007-04-03 2018-05-03 145447 ENSG00000131969 OTTHUMG00000140286 uc001wyr.3 BG698443 NM_001206673 "CCDS55916|CCDS9702" Q7Z5M8 MGI:2685650 RGD:1303145 S09.061 HGNC:19837 "ENST00000337334.7|NM_001206673.2" +HGNC:20293 ABHD13 abhydrolase domain containing 13 protein-coding gene gene with protein product Approved 13q33.3 13q33.3 "bA153I24.2|FLJ14906|BEM46L1" C13orf6 chromosome 13 open reading frame 6 Abhydrolase domain containing 4 2004-04-16 2006-03-10 2006-03-10 2018-05-03 84945 ENSG00000139826 OTTHUMG00000017330 uc001vqq.4 AK027812 NM_032859 CCDS32007 Q7L211 MGI:1916154 RGD:1308317 S09.051 HGNC:20293 "ENST00000375898.4|NM_032859.3" +HGNC:24538 ABHD14A abhydrolase domain containing 14A protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "DKFZP564O243|DORZ1" Abhydrolase domain containing 4 2005-03-16 2016-10-05 25864 ENSG00000248487 OTTHUMG00000157818 uc003dco.4 AY358201 NM_015407 CCDS2843 Q9BUJ0 MGI:1915894 RGD:1309721 618771 S33.981 HGNC:24538 "ENST00000273596.8|NM_015407.5" +HGNC:38856 ABHD14A-ACY1 ABHD14A-ACY1 readthrough other readthrough Approved 3p21.2 03p21.2 ABHD14A-ACY1 readthrough (NMD candidate) 2011-05-31 2015-10-15 2015-10-16 100526760 ENSG00000114786 OTTHUMG00000166447 uc062kji.1 NM_001316331 HGNC:38856 +HGNC:28235 ABHD14B abhydrolase domain containing 14B protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "MGC15429|CIB" Abhydrolase domain containing 4 2005-12-22 2015-07-16 84836 ENSG00000114779 OTTHUMG00000157816 uc003dcn.3 AK075112 NM_032750 CCDS2842 Q96IU4 MGI:1923741 RGD:1359649 S33.983 HGNC:28235 "ENST00000361143.10|NM_001146314.2" +HGNC:26971 ABHD15 abhydrolase domain containing 15 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 Abhydrolase domain containing 4 2009-04-06 2016-11-09 116236 ENSG00000168792 OTTHUMG00000179721 uc002hed.3 AK056717 NM_198147 CCDS32602 Q6UXT9 12975309 MGI:1914727 RGD:1304598 HGNC:26971 "ENST00000307201.5|NM_198147.3" +HGNC:49685 ABHD15-AS1 ABHD15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q11.2 17q11.2 "linc-TP53I13|lnc-TP53I13" Antisense RNAs 1987 2014-02-04 2014-02-10 104355133 ENSG00000264031 OTTHUMG00000179722 CN275323 24504737 ABHD15-AS1 +HGNC:13921 ABHD16A abhydrolase domain containing 16A, phospholipase protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "NG26|D6S82E" BAT5 "HLA-B associated transcript 5|abhydrolase domain containing 16A" "Abhydrolase domain containing|MicroRNA protein coding host genes" "4|1691" 2001-07-13 2010-12-09 2020-01-21 2020-01-21 7920 ENSG00000204427 OTTHUMG00000031177 uc003nvy.3 AF129756 NM_001177515 "CCDS54988|CCDS4713" O95870 "2911734|2813433|25580854|25290914" MGI:99476 RGD:1303164 142620 S09.065 HGNC:13921 "ENST00000395952.8|NM_021160.3" +HGNC:16128 ABHD16B abhydrolase domain containing 16B protein-coding gene gene with protein product Approved 20q13.33 20q13.33 dJ591C20.1 C20orf135 chromosome 20 open reading frame 135 Abhydrolase domain containing 4 2001-07-17 2010-12-09 2010-12-09 2018-05-03 140701 ENSG00000183260 OTTHUMG00000033010 uc002ygx.3 NM_080622 CCDS13539 Q9H3Z7 MGI:3607711 RGD:1309726 HGNC:16128 "ENST00000369916.5|NM_080622.4" +HGNC:28756 ABHD17A abhydrolase domain containing 17A, depalmitoylase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC5244 "C19orf27|FAM108A1" "chromosome 19 open reading frame 27|family with sequence similarity 108, member A1|abhydrolase domain containing 17A" "Abhydrolase domain containing|Depalmitoylases" "4|1749" 2004-03-17 2013-03-15 2020-01-21 2020-01-21 81926 ENSG00000129968 OTTHUMG00000171872 uc002lug.4 BC020512 NM_031213 "CCDS32867|CCDS45902" Q96GS6 "14702039|26701913|27307232|28521134" MGI:106388 RGD:1359682 617942 S09.052 HGNC:28756 "ENST00000292577.12|NM_001130111.2" +HGNC:28394 ABHD17AP1 ABHD17A pseudogene 1 pseudogene pseudogene Approved 1q21.2 01q21.2 C1orf47 "FAM108A2|ABHD17AP2|FAM108A3|FAM108A11P|FAM108A3P" "family with sequence similarity 108, member A2|abhydrolase domain containing 17A pseudogene 2|family with sequence similarity 108, member A3|family with sequence similarity 108, member A11, pseudogene|family with sequence similarity 108, member A3, pseudogene|abhydrolase domain containing 17A pseudogene 1" 2006-01-17 2013-03-15 2020-01-21 2020-01-21 728917 ENSG00000198658 OTTHUMG00000047949 NG_011738 PGOHUM00000296554 HGNC:28394 +HGNC:34041 ABHD17AP3 ABHD17A pseudogene 3 pseudogene pseudogene Approved 1q41 01q41 "FAM108A4|FAM108A4P" "family with sequence similarity 108, member A4|family with sequence similarity 108, member A4, pseudogene|abhydrolase domain containing 17A pseudogene 3" 2008-04-02 2013-03-15 2020-01-21 2020-01-21 648359 ENSG00000250536 OTTHUMG00000036949 XR_041784 PGOHUM00000259514 HGNC:34041 +HGNC:34042 ABHD17AP4 ABHD17A pseudogene 4 pseudogene pseudogene Approved 22q11.21 22q11.21 "FAM108A5|FAM108A5P" "family with sequence similarity 108, member A5|family with sequence similarity 108, member A5, pseudogene|abhydrolase domain containing 17A pseudogene P4" 2008-04-02 2013-03-15 2020-01-21 2020-01-21 729495 ENSG00000229107 OTTHUMG00000150752 NG_023156 PGOHUM00000246246 HGNC:34042 +HGNC:34043 ABHD17AP5 ABHD17A pseudogene 5 pseudogene pseudogene Approved 22q11.22 22q11.22 "FAM108A6|FAM108A6P" "family with sequence similarity 108, member A6|family with sequence similarity 108, member A6, pseudogene|abhydrolase domain containing 17A pseudogene 5" 2008-04-02 2013-03-15 2020-01-21 2020-04-20 91219 ENSG00000263366 OTTHUMG00000188359 NG_000002 9074928 PGOHUM00000297482 HGNC:34043 +HGNC:34044 ABHD17AP6 ABHD17A pseudogene 6 pseudogene pseudogene Approved 17p11.2 17p11.2 FAM108A7P "family with sequence similarity 108, member A7, pseudogene|abhydrolase domain containing 17A pseudogene 6" 2010-05-25 2013-03-15 2020-01-21 2020-01-21 644988 ENSG00000226981 OTTHUMG00000132836 NG_022988 PGOHUM00000237299 HGNC:34044 +HGNC:38508 ABHD17AP7 ABHD17A pseudogene 7 pseudogene pseudogene Approved 16p11.2 16p11.2 FAM108A8P "family with sequence similarity 108, member A8, pseudogene|abhydrolase domain containing 17A pseudogene 7" 2010-05-25 2013-03-15 2020-01-21 2020-01-21 100133212 ENSG00000260864 OTTHUMG00000176510 NG_022980 PGOHUM00000293533 HGNC:38508 +HGNC:38509 ABHD17AP8 ABHD17A pseudogene 8 pseudogene pseudogene Approved 16p11.2 16p11.2 FAM108A9P "family with sequence similarity 108, member A9, pseudogene|abhydrolase domain containing 17A pseudogene 8" 2010-05-25 2013-03-15 2020-01-21 2020-01-21 647144 ENSG00000260540 OTTHUMG00000176567 NG_023021 PGOHUM00000293798 HGNC:38509 +HGNC:38510 ABHD17AP9 ABHD17A pseudogene 9 pseudogene pseudogene Approved 16p11.2 16p11.2 FAM108A10P "family with sequence similarity 108, member A10, pseudogene|abhydrolase domain containing 17A pseudogene 9" 2010-05-25 2013-03-15 2020-01-21 2020-01-21 100132251 ENSG00000261536 OTTHUMG00000176455 NG_028293 PGOHUM00000293815 HGNC:38510 +HGNC:24278 ABHD17B abhydrolase domain containing 17B, depalmitoylase protein-coding gene gene with protein product Approved 9q21.13 09q21.13 CGI-67 "C9orf77|FAM108B1" "chromosome 9 open reading frame 77|family with sequence similarity 108, member B1|abhydrolase domain containing 17B" "Abhydrolase domain containing|Depalmitoylases" "4|1749" 2004-01-27 2013-03-15 2020-01-21 2020-01-21 51104 ENSG00000107362 OTTHUMG00000020001 uc004ail.4 AF151825 NM_016014 "CCDS35042|CCDS35043" Q5VST6 "10810093|26701913|27307232|28521134" MGI:1917816 RGD:1305246 617943 S09.055 HGNC:24278 "ENST00000333421.7|NM_001025780.3" +HGNC:26925 ABHD17C abhydrolase domain containing 17C, depalmitoylase protein-coding gene gene with protein product Approved 15q25.1 15q25.1 FAM108C1 "family with sequence similarity 108, member C1|abhydrolase domain containing 17C" "Abhydrolase domain containing|Depalmitoylases" "4|1749" 2007-04-03 2013-03-15 2020-01-21 2020-01-21 58489 ENSG00000136379 uc002bfu.4 NM_021214 CCDS45323 Q6PCB6 "26701913|27307232|28521134" MGI:1917428 RGD:1308210 617944 S09.053 HGNC:26925 "ENST00000258884.5|NM_021214.2" +HGNC:26111 ABHD18 abhydrolase domain containing 18 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 FLJ21106 C4orf29 chromosome 4 open reading frame 29 Abhydrolase domain containing 4 2006-07-17 2015-10-16 2015-10-16 2015-10-16 80167 ENSG00000164074 OTTHUMG00000133304 AK024759 NM_001039717 CCDS87261 Q0P651 12477932 MGI:1915468 RGD:1563987 HGNC:26111 "ENST00000645843.2|NM_001358451.3" +HGNC:11320 ABI1 abl interactor 1 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "E3B1|ABI-1" SSH3BP1 "spectrin SH3 domain binding protein 1|abl-interactor 1" 1999-05-17 2004-03-19 2015-12-04 2015-12-04 10006 ENSG00000136754 OTTHUMG00000017848 uc001isx.4 U87166 NM_005470 "CCDS53498|CCDS53500|CCDS73078|CCDS7150|CCDS73077|CCDS53497|CCDS31171|CCDS31170|CCDS53501|CCDS31169|CCDS53499" Q8IZP0 "9593709|9010225" MGI:104913 RGD:621008 ABI1 603050 HGNC:11320 "ENST00000376140.4|NM_001012750.3" +HGNC:20035 ABI1P1 abl interactor 1 pseudogene 1 pseudogene pseudogene Approved 14q22.3 14q22.3 "SSH3BP1P|ABI1P" "spectrin SH3 domain binding protein 1 pseudogene|abl-interactor 1 pseudogene" 2003-01-13 2010-01-12 2016-05-26 2018-05-23 326268 ENSG00000271484 OTTHUMG00000184542 NG_002531 PGOHUM00000292672 HGNC:20035 +HGNC:24011 ABI2 abl interactor 2 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "ABI-2|AIP-1|ABI2B|AblBP3|argBPIA|SSH3BP2" abl-interactor 2 SCAR/WAVE complex 1793 2004-03-11 2016-05-26 2016-10-05 10152 ENSG00000138443 OTTHUMG00000132879 uc002uzz.5 AF260261 NM_005759 "CCDS63094|CCDS63093|CCDS2358" Q9NYB9 "7590236|10964520" MGI:106913 RGD:628771 606442 HGNC:24011 "ENST00000261018.12|NM_001375670.1" +HGNC:29859 ABI3 ABI family member 3 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "NESH|SSH3BP3" ABI family, member 3 2004-03-11 2015-11-18 2016-10-05 51225 ENSG00000108798 OTTHUMG00000161306 uc002iop.1 AB037886 NM_016428 "CCDS11546|CCDS45725" Q9P2A4 "10978530|11956071" MGI:1913860 RGD:1311794 606363 HGNC:29859 "ENST00000225941.6|NM_016428.3" +HGNC:17265 ABI3BP ABI family member 3 binding protein protein-coding gene gene with protein product Approved 3q12.2 03q12.2 "NESHBP|DKFZP586L2024|TARSH" target of Nesh-SH3 ABI family, member 3 (NESH) binding protein Fibronectin type III domain containing 555 2004-11-30 2015-11-17 2015-11-17 25890 ENSG00000154175 OTTHUMG00000159094 uc003dun.4 AB056106 NM_001349329 CCDS46880 Q7Z7G0 11501947 MGI:2444583 RGD:1562717 606279 HGNC:17265 "ENST00000471714.6|NM_001375547.2" +HGNC:1364 ABITRAM actin binding transcription modulator protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "CG-8|FLJ20457|Simiate" "C9orf6|FAM206A" "chromosome 9 open reading frame 6|family with sequence similarity 206, member A|family with sequence similarity 206 member A" 1999-06-02 2019-01-11 2019-01-11 2020-09-17 54942 ENSG00000119328 OTTHUMG00000020467 uc004bdn.4 BC015795 NM_017832 CCDS6774 Q9NX38 "24349419|24782708" MGI:2677850 RGD:1594560 HGNC:1364 "ENST00000322940.11|NM_017832.4" +HGNC:39851 ABITRAMP1 ABITRAM pseudogene 1 pseudogene pseudogene Approved 13q14.13 13q14.13 FAM206BP "family with sequence similarity 206, member B, pseudogene|family with sequence similarity 206 member B, pseudogene" 2011-08-15 2019-01-11 2019-01-11 2019-01-11 390403 ENSG00000251106 OTTHUMG00000016869 NG_011392 HGNC:39851 +HGNC:76 ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase protein-coding gene gene with protein product Approved 9q34.12 09q34.12 "JTK7|c-ABL|p150" ABL "v-abl Abelson murine leukemia viral oncogene homolog 1|c-abl oncogene 1, receptor tyrosine kinase|c-abl oncogene 1, non-receptor tyrosine kinase" "SH2 domain containing|Abl family tyrosine kinases" "741|1463" 1986-01-01 2014-06-26 2021-05-26 25 ENSG00000097007 OTTHUMG00000020813 uc004bzv.4 M14752 NM_007313 "CCDS35165|CCDS35166" P00519 "1857987|12626632" MGI:87859 RGD:1584969 LRG_769|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_769.xml ABL1 189980 117691 objectId:1923 HGNC:76 "ENST00000318560.6|NM_005157.6" HGNC:76 +HGNC:77 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase protein-coding gene gene with protein product Approved 1q25.2 01q25.2 ARG Abelson-related gene ABLL "v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)|v-abl Abelson murine leukemia viral oncogene homolog 2|c-abl oncogene 2, non-receptor tyrosine kinase" "SH2 domain containing|Abl family tyrosine kinases" "741|1463" 1986-01-01 2014-06-26 2020-09-17 27 ENSG00000143322 OTTHUMG00000035199 uc001gmj.5 M14904 NM_005158 "CCDS44282|CCDS44283|CCDS30947|CCDS53437|CCDS53438|CCDS41441|CCDS53435|CCDS53436" P42684 3787260 MGI:87860 RGD:1590898 ABL2 164690 objectId:1924 HGNC:77 "ENST00000502732.6|NM_007314.4" +HGNC:78 ABLIM1 actin binding LIM protein 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "abLIM|limatin" "LIMAB1|ABLIM" LIM domain containing 1218 1997-10-10 2002-09-13 2020-09-17 3983 ENSG00000099204 OTTHUMG00000019088 uc057wcy.1 AF005654 NM_001003407 "CCDS31288|CCDS81509|CCDS81508|CCDS7590|CCDS31289" O14639 9245787 MGI:1194500 RGD:1565768 602330 HGNC:78 "ENST00000533213.7|NM_002313.7" +HGNC:19195 ABLIM2 actin binding LIM protein family member 2 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 KIAA1808 "actin binding LIM protein 2|actin binding LIM protein family, member 2" "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2002-09-19 2015-11-18 2019-03-21 84448 ENSG00000163995 OTTHUMG00000057427 uc003gkj.5 AB058711 NM_001130083 "CCDS68669|CCDS47013|CCDS47012|CCDS47011|CCDS54719|CCDS47016|CCDS47014|CCDS47015" Q6H8Q1 16005990 MGI:2385758 RGD:1303094 612544 HGNC:19195 "ENST00000447017.7|NM_001130083.2" +HGNC:29132 ABLIM3 actin binding LIM protein family member 3 protein-coding gene gene with protein product Approved 5q32 05q32 KIAA0843 actin binding LIM protein family, member 3 LIM domain containing 1218 2004-01-22 2015-11-18 2019-03-21 22885 ENSG00000173210 OTTHUMG00000129932 uc003lpy.3 AB020650 NM_014945 "CCDS78071|CCDS87335|CCDS4294|CCDS78069" O94929 "16328021|20709423" MGI:2442582 RGD:1565118 611305 HGNC:29132 "ENST00000309868.12|NM_014945.5" +HGNC:79 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "A3GALNT|A3GALT1" ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) "Glycosyltransferase family 6|Blood group antigens" "429|454" 1986-01-01 2016-10-13 2021-05-26 28 ENSG00000175164 OTTHUMG00000020872 uc064wua.1 AF134415 NM_020469 P16442 184030 MGI:2135738 RGD:2307241 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_792|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_792.xml" 110300 "2.4.1.40|2.4.1.37" HGNC:79 +HGNC:81 ABR ABR activator of RhoGEF and GTPase protein-coding gene gene with protein product Approved 17p13.3 17p13.3 MDB "active BCR-related gene|ABR, RhoGEF and GTPase activating protein" "Pleckstrin homology domain containing|Dbl family Rho GEFs|C2 domain containing|MicroRNA protein coding host genes" "682|722|823|1691" 1990-04-11 2019-01-25 2020-09-17 29 ENSG00000159842 OTTHUMG00000090313 uc002fsd.6 L19704 NM_001092 "CCDS54060|CCDS10999|CCDS11000|CCDS73936|CCDS58497" Q12979 "2587217|7479768|17116687" MGI:107771 RGD:1306279 600365 HGNC:81 "ENST00000302538.10|NM_021962.5" +HGNC:55674 ABR-AS1 ABR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 Antisense RNAs 1987 2021-07-01 2021-07-01 105371479 ENSG00000235361 XR_934138 +HGNC:30655 ABRA actin binding Rho activating protein protein-coding gene gene with protein product Approved 8q23.1 08q23.1 STARS striated muscle activator of Rho-dependent signaling 2006-02-02 2015-04-29 2015-04-29 137735 ENSG00000174429 OTTHUMG00000164809 uc003ymm.5 AF503617 NM_139166 CCDS6305 Q8N0Z2 11983702 MGI:2444891 RGD:708493 609747 HGNC:30655 "ENST00000311955.4|NM_139166.5" +HGNC:21230 ABRACL ABRA C-terminal like protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "PRO2013|HSPC280|Costars" C6orf115 chromosome 6 open reading frame 115 2003-05-29 2012-03-05 2012-03-05 2014-11-19 58527 ENSG00000146386 OTTHUMG00000015684 uc003qil.2 BC014953 NM_021243 CCDS43509 Q9P1F3 21082705 MGI:1920362 RGD:1583256 HGNC:21230 "ENST00000367660.4|NM_021243.3" +HGNC:25829 ABRAXAS1 abraxas 1, BRCA1 A complex subunit protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "FLJ13614|ABRA1|ABRAXAS" Abraxas protein "CCDC98|FAM175A" "coiled-coil domain containing 98|family with sequence similarity 175, member A|family with sequence similarity 175 member A|Abraxas 1, BRCA1 A complex subunit" BRCA1 A complex 1328 2006-04-03 2017-04-27 2017-04-27 2017-04-27 84142 ENSG00000163322 OTTHUMG00000130429 uc003hou.3 AK023676 NM_139076 CCDS3605 Q6UWZ7 "12975309|17525340" MGI:1917931 RGD:1305287 611143 470314 HGNC:25829 "ENST00000321945.12|NM_139076.3" +HGNC:28975 ABRAXAS2 abraxas 2, BRISC complex subunit protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "Em:AC068896.4|ABRO1" Abraxas brother "KIAA0157|FAM175B" "KIAA0157|family with sequence similarity 175, member B|family with sequence similarity 175 member B" BRISC complex 1375 2004-03-16 2017-04-27 2017-04-27 2017-04-27 23172 ENSG00000165660 OTTHUMG00000019218 uc001lib.4 D63877 NM_032182 CCDS31308 Q15018 8590280 MGI:1926116 RGD:1308918 611144 HGNC:28975 "ENST00000298492.6|NM_032182.4" +HGNC:17369 ABT1 activator of basal transcription 1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 Esf2 SSU processome 1484 2002-07-23 2017-05-26 29777 ENSG00000146109 OTTHUMG00000016319 uc003nii.4 AB027258 NM_013375 CCDS4616 Q9ULW3 10648625 MGI:1353636 RGD:1310785 618750 HGNC:17369 "ENST00000274849.3|NM_013375.4" +HGNC:39557 ABT1P1 activator of basal transcription 1 pseudogene 1 pseudogene pseudogene Approved 4q23 04q23 2011-02-25 2011-02-25 100420695 ENSG00000250496 OTTHUMG00000161229 NG_025142 PGOHUM00000245631 HGNC:39557 +HGNC:18275 ABTB1 ankyrin repeat and BTB domain containing 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "BPOZ|EF1ABP|Btb3|BTBD21" ankyrin repeat and BTB (POZ) domain containing 1 "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2002-03-14 2016-02-12 2016-10-05 80325 ENSG00000114626 OTTHUMG00000159636 uc003ejt.4 AB053324 NM_172027 "CCDS3045|CCDS46901" Q969K4 "10891360|11494141" MGI:1933148 RGD:1359363 608308 HGNC:18275 "ENST00000232744.13|NM_172027.3" +HGNC:23842 ABTB2 ankyrin repeat and BTB domain containing 2 protein-coding gene gene with protein product Approved 11p13 11p13 "DKFZP586C1619|BTBD22|ABTB2A" ankyrin repeat and BTB (POZ) domain containing 2 "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2003-12-15 2016-02-12 2016-04-25 25841 ENSG00000166016 OTTHUMG00000044382 uc001mvl.3 AK056863 NM_145804 CCDS7890 Q8N961 MGI:2139365 RGD:620724 HGNC:23842 "ENST00000435224.3|NM_145804.3" +HGNC:82 ACAA1 acetyl-CoA acyltransferase 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 Lnc-Myd88 peroxisomal 3-oxoacyl-Coenzyme A thiolase acetyl-Coenzyme A acyltransferase 1 1989-06-30 2010-04-30 2022-02-22 30 ENSG00000060971 OTTHUMG00000131087 uc003cht.4 X14813 NM_001607 "CCDS46794|CCDS2673" P09110 22151743 "MGI:2148491|MGI:3605455" RGD:67379 604054 469902 2.3.1.16 HGNC:82 "ENST00000333167.13|NM_001607.4" +HGNC:83 ACAA2 acetyl-CoA acyltransferase 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 DSAEC mitochondrial 3-oxoacyl-Coenzyme A thiolase acetyl-Coenzyme A acyltransferase 2 1999-09-28 2010-04-30 2020-09-17 10449 ENSG00000167315 OTTHUMG00000132667 uc002ldw.5 D16294 NM_006111 CCDS11939 P42765 8241273 MGI:1098623 RGD:620482 604770 2.3.1.16 HGNC:83 "ENST00000285093.15|NM_006111.3" +HGNC:55880 ACAA2P1 ACAA2 pseudogene 1 pseudogene pseudogene Approved Xp11.23 Xp11.23 2021-09-29 2021-09-29 100420869 ENSG00000233585 NG_026698 PGOHUM00000304610 +HGNC:84 ACACA acetyl-CoA carboxylase alpha protein-coding gene gene with protein product Approved 17q12 17q12 "ACC1|ACC-alpha|ACCA|ACCalpha|ACACalpha|Acac1|hACC1" acetyl-CoA carboxylase 1 "ACAC|ACC" acetyl-Coenzyme A carboxylase alpha 1989-09-11 2010-04-30 2021-10-26 31 ENSG00000278540 OTTHUMG00000188463 uc284osy.1 U19822 NM_198836 "CCDS42303|CCDS11317|CCDS11318|CCDS42302" Q13085 9530626 MGI:108451 RGD:621248 200350 objectId:1263 6.4.1.2 HGNC:84 "ENST00000616317.5|NM_198834.3" +HGNC:85 ACACB acetyl-CoA carboxylase beta protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "HACC275|ACC2|ACCB|ACC-beta|ACCbeta|ACACbeta" acetyl-CoA carboxylase 2 acetyl-Coenzyme A carboxylase beta 1996-12-18 2010-04-30 2021-10-26 32 ENSG00000076555 OTTHUMG00000169250 uc001tob.4 U89344 NM_001093 CCDS31898 O00763 "8670171|9284908" MGI:2140940 RGD:620500 601557 objectId:1264 6.4.1.2 HGNC:85 "ENST00000338432.12|NM_001093.4" HGNC:85 +HGNC:87 ACAD8 acyl-CoA dehydrogenase family member 8 protein-coding gene gene with protein product Approved 11q25 11q25 isobutyryl-CoA dehydrogenase "acyl-Coenzyme A dehydrogenase family, member 8|acyl-CoA dehydrogenase family, member 8" Acyl-CoA dehydrogenase family 974 2000-01-07 2015-11-18 2021-05-26 27034 ENSG00000151498 OTTHUMG00000167177 uc001qhk.4 AF126245 NM_014384 CCDS8498 Q9UKU7 "10524212|12359132" MGI:1914198 RGD:1564209 LRG_448|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_448.xml 604773 123336 HGNC:87 "ENST00000281182.9|NM_014384.3" HGNC:87 +HGNC:21497 ACAD9 acyl-CoA dehydrogenase family member 9 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "NPD002|MGC14452" "acyl-Coenzyme A dehydrogenase family, member 9|acyl-CoA dehydrogenase family, member 9" "Acyl-CoA dehydrogenase family|Mitochondrial complex I assembly complex" "974|1387" 2003-06-18 2015-11-18 2021-05-26 28976 ENSG00000177646 OTTHUMG00000159942 uc003ela.5 AF078854 NM_014049 CCDS3053 Q9H845 "12359260|21057504|20816094" MGI:1914272 RGD:727973 611103 123334 HGNC:21497 "ENST00000308982.12|NM_014049.5" HGNC:21497 +HGNC:56086 ACAD9-DT ACAD9 divergent transcript non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 Divergent transcripts 1990 2021-12-20 2021-12-20 123706524 ENSG00000287110 XR_007096078 +HGNC:21597 ACAD10 acyl-CoA dehydrogenase family member 10 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 MGC5601 "acyl-Coenzyme A dehydrogenase family, member 10|acyl-CoA dehydrogenase family, member 10" Acyl-CoA dehydrogenase family 974 2003-07-17 2015-11-18 2018-05-03 80724 ENSG00000111271 OTTHUMG00000169602 uc009zvx.4 AY323912 NM_025247 "CCDS44973|CCDS31903" Q6JQN1 15560374 MGI:1919235 RGD:1310159 611181 HGNC:21597 "ENST00000313698.9|NM_025247.6" +HGNC:30211 ACAD11 acyl-CoA dehydrogenase family member 11 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 FLJ12592 "acyl-Coenzyme A dehydrogenase family, member 11|acyl-CoA dehydrogenase family, member 11" Acyl-CoA dehydrogenase family 974 2006-01-09 2015-11-18 2019-03-21 84129 ENSG00000240303 OTTHUMG00000159780 uc003eov.5 BC019607 NM_032169 CCDS3074 Q709F0 25704813 MGI:2143169 RGD:1306270 614288 HGNC:30211 "ENST00000264990.11|NM_032169.5" +HGNC:88 ACADL acyl-CoA dehydrogenase long chain protein-coding gene gene with protein product Approved 2q34 02q34 "LCAD|ACAD4" long-chain acyl-CoA dehydrogenase acyl-Coenzyme A dehydrogenase, long chain Acyl-CoA dehydrogenase family 974 1988-11-07 2017-09-21 2021-10-20 33 ENSG00000115361 OTTHUMG00000132989 uc002vdz.5 M74096 NM_001608 CCDS2389 P28330 1774065 MGI:87866 RGD:2011 609576 159889 1.3.8.8 HGNC:88 "ENST00000233710.4|NM_001608.4" HGNC:88 +HGNC:89 ACADM acyl-CoA dehydrogenase medium chain protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "MCAD|MCADH|ACAD1" medium-chain acyl-CoA dehydrogenase acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain Acyl-CoA dehydrogenase family 974 1986-01-01 2017-09-21 2021-05-26 34 ENSG00000117054 OTTHUMG00000009784 uc001dgw.6 M16827 NM_000016 "CCDS668|CCDS72807|CCDS44165|CCDS65562" P11310 3035565 MGI:87867 RGD:2012 LRG_838|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_838.xml 607008 117700 1.3.8.7 HGNC:89 "ENST00000370841.9|NM_000016.6" HGNC:89 +HGNC:90 ACADS acyl-CoA dehydrogenase short chain protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SCAD|ACAD3" acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain Acyl-CoA dehydrogenase family 974 1986-01-01 2017-09-21 2021-05-26 35 ENSG00000122971 OTTHUMG00000169203 uc001tza.5 M26393 NM_000017 "CCDS9207|CCDS76610" P16219 2565344 MGI:87868 RGD:620514 606885 117705 1.3.8.1 HGNC:90 "ENST00000242592.9|NM_000017.4" HGNC:90 +HGNC:91 ACADSB acyl-CoA dehydrogenase short/branched chain protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "SBCAD|ACAD7" acyl-Coenzyme A dehydrogenase, short/branched chain Acyl-CoA dehydrogenase family 974 1994-10-14 2017-09-21 2021-05-26 36 ENSG00000196177 OTTHUMG00000019200 uc001lhb.4 U12778 NM_001609 "CCDS81518|CCDS7634" P45954 "7698750|7759115" MGI:1914135 RGD:2013 LRG_451|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_451.xml 600301 117709 1.3.99.- HGNC:91 "ENST00000358776.7|NM_001609.4" HGNC:91 +HGNC:92 ACADVL acyl-CoA dehydrogenase very long chain protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "VLCAD|LCACD|ACAD6" acyl-Coenzyme A dehydrogenase, very long chain Acyl-CoA dehydrogenase family 974 1996-05-30 2017-09-21 2021-05-26 37 ENSG00000072778 OTTHUMG00000102157 uc002gev.5 BC012912 NM_000018 "CCDS11090|CCDS58509|CCDS42249" P49748 8921384 MGI:895149 RGD:2014 609575 117713 HGNC:92 "ENST00000356839.10|NM_000018.4" HGNC:92 +HGNC:319 ACAN aggrecan protein-coding gene gene with protein product Approved 15q26.1 15q26.1 CSPGCP aggrecan proteoglycan "MSK16|CSPG1|AGC1" "chondroitin sulfate proteoglycan 1|aggrecan 1" "Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing" "574|590|1179|1298" 1992-06-17 2007-02-16 2007-02-16 2021-05-26 176 ENSG00000157766 OTTHUMG00000171989 uc010upo.1 M55172 NM_001135 "CCDS53971|CCDS53970" P16112 1985970 MGI:99602 RGD:68358 155760 117718 HGNC:319 "ENST00000560601.4|NM_001369268.1" HGNC:319 +HGNC:16467 ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KIAA0050 CENTB1 centaurin, beta 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-09-03 2008-09-22 2008-09-22 2015-08-26 9744 ENSG00000072818 OTTHUMG00000102199 uc002ggd.3 D30758 NM_014716 CCDS11101 Q15027 "11050434|11062263" MGI:2388270 RGD:1305360 607763 HGNC:16467 "ENST00000158762.8|NM_014716.4" +HGNC:16469 ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 protein-coding gene gene with protein product Approved 3q29 03q29 "KIAA0041|CNT-B2" CENTB2 centaurin, beta 2 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-09-03 2008-09-22 2008-09-22 2015-08-26 23527 ENSG00000114331 OTTHUMG00000155885 uc003fun.5 NM_012287 CCDS33924 Q15057 "11050434|11062263" MGI:1925868 RGD:1562939 607766 HGNC:16469 "ENST00000326793.11|NM_012287.6" +HGNC:41426 ACAP2-IT1 ACAP2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 ACAP2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-04 2015-02-25 2015-02-25 100874306 ENSG00000229325 OTTHUMG00000155905 uc062rqs.1 ACAP2-IT1 +HGNC:16754 ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 KIAA1716 CENTB5 centaurin, beta 5 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing|MicroRNA protein coding host genes" "395|403|1291|1691" 2001-10-29 2008-09-22 2008-09-22 2019-03-21 116983 ENSG00000131584 OTTHUMG00000002235 uc001aeb.3 AF411981 NM_030649 CCDS19 Q96P50 "27330119|28919417" MGI:2153589 RGD:1310711 HGNC:16754 "ENST00000354700.10|NM_030649.3" +HGNC:93 ACAT1 acetyl-CoA acetyltransferase 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 THIL acetoacetyl Coenzyme A thiolase ACAT acetyl-Coenzyme A acetyltransferase 1 1991-08-12 2010-04-30 2021-12-09 38 ENSG00000075239 OTTHUMG00000166381 uc001pjy.4 D90228 NM_000019 CCDS8339 P24752 1979337 MGI:87870 RGD:2016 LRG_1400|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1400.xml 607809 117724 objectId:2435 2.3.1.9 HGNC:93 "ENST00000265838.9|NM_000019.4" HGNC:93 +HGNC:94 ACAT2 acetyl-CoA acetyltransferase 2 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "acetoacetyl Coenzyme A thiolase|Acetyl-CoA acetyltransferase, cytosolic" "acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)|acetyl-Coenzyme A acetyltransferase 2" 1994-04-15 2010-04-30 2021-12-07 39 ENSG00000120437 OTTHUMG00000015935 uc010kjy.4 AF356877 NM_005891 CCDS5268 Q9BWD1 "2475872|8812443" "MGI:87871|MGI:109182" RGD:1359366 100678 objectId:2436 2.3.1.9 HGNC:94 "ENST00000367048.5|NM_005891.3" HGNC:94 +HGNC:15453 ACBD3 acyl-CoA binding domain containing 3 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "GCP60|PAP7" PBR- and PKA-associated protein 7 "GOLPH1|GOCAP1" "golgi complex associated protein 1, 60kDa|acyl-Coenzyme A binding domain containing 3" A-kinase anchoring proteins 396 2001-04-27 2003-11-12 2010-04-30 2016-10-05 64746 ENSG00000182827 OTTHUMG00000037560 uc001hpy.4 AB043587 NM_022735 CCDS1551 Q9H3P7 "12692076|20150326" MGI:2181074 RGD:727851 606809 HGNC:15453 "ENST00000366812.6|NM_022735.4" +HGNC:40701 ACBD3-AS1 ACBD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 RP11-275I14.4 Antisense RNAs 1987 2016-11-11 2017-09-21 107985353 ENSG00000234478 OTTHUMG00000041339 AW511419 NR_146443 28881755 HGNC:40701 +HGNC:23337 ACBD4 acyl-CoA binding domain containing 4 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ13322 acyl-Coenzyme A binding domain containing 4 2003-11-11 2010-04-30 2019-03-21 79777 ENSG00000181513 OTTHUMG00000180111 uc002iic.4 BC029164 NM_024722 "CCDS45711|CCDS45710|CCDS42348" Q8NC06 28463579 MGI:1914381 RGD:1308404 HGNC:23337 "ENST00000321854.13|NM_001135705.3" +HGNC:23338 ACBD5 acyl-CoA binding domain containing 5 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "DKFZp434A2417|KIAA1996" acyl-Coenzyme A binding domain containing 5 2003-11-11 2010-04-30 2021-05-26 91452 ENSG00000107897 OTTHUMG00000017854 uc001ito.4 AF505653 NM_145698 "CCDS44368|CCDS7154|CCDS76290|CCDS73079|CCDS86078" Q5T8D3 12056414 MGI:1921409 RGD:1309411 616618 469904 HGNC:23338 "ENST00000396271.8|NM_145698.5" HGNC:23338 +HGNC:23339 ACBD6 acyl-CoA binding domain containing 6 protein-coding gene gene with protein product Approved 1q25.2-q25.3 01q25.2-q25.3 MGC2404 acyl-Coenzyme A binding domain containing 6 "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2003-11-11 2010-04-30 2021-05-26 84320 ENSG00000230124 OTTHUMG00000035117 uc001gog.4 BC006505 NM_032360 CCDS1339 Q9BR61 18268358 MGI:1919732 RGD:1305030 616352 HGNC:23339 "ENST00000367595.4|NM_032360.4" HGNC:23339 +HGNC:17715 ACBD7 acyl-CoA binding domain containing 7 protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ38219|bA455B2.2" acyl-Coenzyme A binding domain containing 7 2004-05-27 2010-04-30 2019-03-21 414149 ENSG00000176244 OTTHUMG00000017725 uc001inv.4 AK095538 NM_001039844 CCDS31153 Q8N6N7 28690493 MGI:1925495 RGD:1564164 HGNC:17715 "ENST00000356189.6|NM_001039844.3" +HGNC:23989 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "PHACS|ACS" 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 2008-01-25 2015-11-04 2018-06-26 84680 ENSG00000110455 OTTHUMG00000166427 uc001mxx.3 AY026508 NM_032592 CCDS7907 Q96QU6 11470512 MGI:1919717 RGD:1309314 608405 HGNC:23989 "ENST00000263776.9|NM_032592.4" +HGNC:34391 ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like protein-coding gene gene with protein product Approved 11p11.2 11p11.2 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 2008-11-26 2016-06-21 2016-06-21 390110 ENSG00000205126 OTTHUMG00000166426 uc001mxw.1 NM_001031854 CCDS41636 Q4AC99 MGI:3584519 RGD:1596039 HGNC:34391 "ENST00000378832.1|NM_001031854.2" +HGNC:25070 ACD ACD shelterin complex subunit and telomerase recruitment factor protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "Ptop|Pip1|Tpp1|Tint1" "TIN2 interacting protein 1|POT1 and TIN2 organizing protein" adrenocortical dysplasia homolog (mouse) Shelterin complex 1334 2005-01-04 2019-01-18 2021-04-13 65057 ENSG00000102977 OTTHUMG00000137547 uc002etp.5 AF070535 NM_022914 "CCDS10842|CCDS42181" Q96AP0 "15231715|15181449" MGI:87873 RGD:1565053 LRG_1237|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1237.xml 609377 419358 HGNC:25070 "ENST00000620761.6|NM_001082486.2" HGNC:25070 +HGNC:2707 ACE angiotensin I converting enzyme protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "ACE1|CD143" peptidyl-dipeptidase A DCP1 angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 CD molecules 471 1989-06-06 2013-06-12 2018-05-08 1636 ENSG00000159640 OTTHUMG00000154927 uc002jau.4 J04144 NM_000789 "CCDS11637|CCDS54155|CCDS45755" P12821 "2554286|10319862" MGI:87874 RGD:2493 106180 117728 XM02-001 objectId:1613 CD143 3.4.15.1 HGNC:2707 "ENST00000290866.10|NM_000789.4" HGNC:2707 +HGNC:13557 ACE2 angiotensin converting enzyme 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 ACEH peptidyl-dipeptidase A "angiotensin I converting enzyme (peptidyl-dipeptidase A) 2|angiotensin I converting enzyme 2" 2000-09-25 2021-01-13 2021-05-26 59272 ENSG00000130234 OTTHUMG00000021177 uc004cxb.2 AF291820 NM_001371415 CCDS14169 Q9BYF1 10969042 MGI:1917258 RGD:728890 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACE2 300335 M02.006 objectId:1614 3.4.17.23 HGNC:13557 "ENST00000252519.8|NM_001371415.1" +HGNC:44365 ACE3P angiotensin I converting enzyme 3, pseudogene pseudogene pseudogene Approved 17q23.3 17q23.3 peptidyl-dipeptidase A, pseudogene angiotensin I converting enzyme (peptidyl-dipeptidase A) 3, pseudogene 2012-08-22 2016-06-27 2016-06-27 100129123 ENSG00000224353 OTTHUMG00000155913 NG_016186 17597519 MGI:3644400 HGNC:44365 +HGNC:18356 ACER1 alkaline ceramidase 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ASAH3 N-acylsphingosine amidohydrolase (alkaline ceramidase) 3 Alkaline ceramidases 400 2003-09-29 2008-12-19 2008-12-19 2015-09-21 125981 ENSG00000167769 OTTHUMG00000180777 uc002mel.3 AF347024 NM_133492 CCDS12161 Q8TDN7 12783875 MGI:2181962 RGD:1588582 613491 objectId:2468 3.5.1.23 HGNC:18356 "ENST00000301452.5|NM_133492.3" +HGNC:23675 ACER2 alkaline ceramidase 2 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 "FLJ41587|ALKCDase2" ASAH3L N-acylsphingosine amidohydrolase 3-like Alkaline ceramidases 400 2004-05-28 2008-12-19 2008-12-19 2016-10-17 340485 ENSG00000177076 OTTHUMG00000019644 uc003zny.2 AK123581 NM_001010887 CCDS34992 Q5QJU3 18945876 MGI:1920932 RGD:1304629 613492 objectId:2469 3.5.1.23 HGNC:23675 "ENST00000340967.3|NM_001010887.3" +HGNC:54674 ACER2P1 ACER2 pseudogene 1 pseudogene pseudogene Approved 2q33.3 02q33.3 2019-11-27 2020-01-21 645978 ENSG00000180105 NG_030142 +HGNC:16066 ACER3 alkaline ceramidase 3 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "FLJ11238|APHC" alkaline phytoceramidase PHCA phytoceramidase, alkaline Alkaline ceramidases 400 2002-01-03 2008-12-19 2008-12-19 2021-05-26 55331 ENSG00000078124 OTTHUMG00000165225 uc009yum.2 AF214454 NM_018367 "CCDS8247|CCDS73352|CCDS76454" Q9NUN7 "11356846|18619555" MGI:1913440 RGD:1561254 617036 objectId:2470 3.5.1.23 HGNC:16066 "ENST00000532485.6|NM_018367.7" +HGNC:108 ACHE acetylcholinesterase (Cartwright blood group) protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Yt blood group YT "acetylcholinesterase (YT blood group)|acetylcholinesterase (Yt blood group)" Blood group antigens 454 1989-06-02 2016-03-30 2021-05-26 43 ENSG00000087085 OTTHUMG00000157033 uc003uxi.4 NM_015831 "CCDS64736|CCDS5710|CCDS5709" P22303 1380483 MGI:87876 RGD:69313 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_804|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_804.xml" 100740 S09.979 objectId:2465 3.1.1.7 HGNC:108 "ENST00000241069.11|NM_000665.5" +HGNC:17066 ACIN1 apoptotic chromatin condensation inducer 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA0670|fSAP152" functional spliceosome-associated protein 152 ACINUS apoptotic chromatin condensation inducer in the nucleus ASAP complex 1236 2003-01-14 2004-04-01 2004-03-31 2014-11-18 22985 ENSG00000100813 OTTHUMG00000028716 uc001wit.5 AB014570 NM_014977 "CCDS55905|CCDS53887|CCDS53888|CCDS53889|CCDS9587" Q9UKV3 "9734811|10490026" MGI:1891824 RGD:1311945 604562 HGNC:17066 "ENST00000605057.6|NM_001386863.1" +HGNC:4035 ACKR1 atypical chemokine receptor 1 (Duffy blood group) protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "CCBP1|GPD|Dfy|CD234" "atypical chemokine receptor 1|glycoprotein D" "FY|DARC" "Duffy blood group|Duffy blood group, chemokine receptor|Duffy blood group, atypical chemokine receptor" "Blood group antigens|CD molecules|Atypical chemokine receptors" "454|471|1090" 2001-06-22 2014-04-04 2014-04-04 2021-04-13 2532 ENSG00000213088 OTTHUMG00000037182 U01839 NM_002036 "CCDS44252|CCDS1183" Q16570 "8248172|7663520|16148" MGI:1097689 RGD:1596198 LRG_801|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_801.xml 613665 objectId:316 CD234 HGNC:4035 "ENST00000368122.4|NM_002036.4" +HGNC:1565 ACKR2 atypical chemokine receptor 2 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "CCR10|D6|CCR9" "CMKBR9|CCBP2" chemokine binding protein 2 Atypical chemokine receptors 1090 1998-04-28 2013-07-16 2013-07-16 2020-11-17 1238 ENSG00000144648 OTTHUMG00000186377 U94888 NM_001296 CCDS2706 O00590 "9364936|9405404|16148" MGI:1891697 RGD:620323 602648 objectId:314 HGNC:1565 "ENST00000422265.6|NM_001296.5" +HGNC:23692 ACKR3 atypical chemokine receptor 3 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "RDC1|GPR159" "CMKOR1|CXCR7" "chemokine orphan receptor 1|chemokine (C-X-C motif) receptor 7" Atypical chemokine receptors 1090 2003-12-01 2013-07-16 2013-07-16 2020-11-17 57007 ENSG00000144476 OTTHUMG00000133295 BC008459 NM_020311 CCDS2516 P25106 "16107333|16148" MGI:109562 RGD:620601 ACKR3 610376 469906 objectId:80 HGNC:23692 "ENST00000272928.4|NM_020311.3" +HGNC:1611 ACKR4 atypical chemokine receptor 4 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "CCR11|CCBP2|VSHK1|CCX-CKR|PPR1" CCRL1 chemokine (C-C motif) receptor-like 1 Atypical chemokine receptors 1090 1999-02-18 2013-07-16 2013-07-16 2020-11-17 51554 ENSG00000129048 OTTHUMG00000159768 AF110640 NM_016557 CCDS3075 Q9NPB9 "10767544|16148" MGI:2181676 RGD:1596453 606065 objectId:315 HGNC:1611 "ENST00000249887.3|NM_016557.4" +HGNC:21142 ACKR4P1 ACKR4 pseudogene 1 pseudogene pseudogene Approved 6q24.1 06q24.1 dJ509I19.4 "CCRL1P|CCRL1P1" "chemokine (C-C motif) receptor-like 1 pseudogene|C-C motif chemokine receptor like 1 pseudogene 1" 2003-11-26 2019-04-15 2019-04-15 2019-04-15 285737 ENSG00000225415 OTTHUMG00000015678 XM_208346 HGNC:21142 +HGNC:115 ACLY ATP citrate lyase protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "ATPCL|CLATP|ACL" ATP citrate synthase 1994-04-08 2020-09-17 47 ENSG00000131473 OTTHUMG00000133507 uc002hyg.4 X64330 NM_001096 "CCDS11413|CCDS11412" P53396 "1371749|8088842" MGI:103251 RGD:2018 108728 2.3.3.8 HGNC:115 "ENST00000352035.7|NM_001096.3" +HGNC:19288 ACMSD aminocarboxymuconate semialdehyde decarboxylase protein-coding gene gene with protein product Approved 2q21.3 02q21.3 MicroRNA protein coding host genes 1691 2002-10-08 2021-12-09 130013 ENSG00000153086 OTTHUMG00000131711 uc002ttz.4 AB071418 NM_001307983 "CCDS77464|CCDS2173" Q8TDX5 12140278 MGI:2386323 RGD:620868 608889 4.1.1.45 HGNC:19288 "ENST00000356140.10|NM_138326.3" HGNC:19288 +HGNC:34504 ACNATP acyl-CoA:amino acid N-acyltransferase pseudogene pseudogene pseudogene Approved 9q31.1 09q31.1 acid-CoA: amino acid N-acyltransferase, pseudogene BAATP1 bile acid-CoA:amino acid N-acyltransferase pseudogene 1 2010-09-29 2018-07-18 2018-07-18 2019-12-17 347275 ENSG00000227411 OTTHUMG00000020374 NG_023464 "17116739|18538142" PGOHUM00000304011 HGNC:34504 +HGNC:117 ACO1 aconitase 1 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "IRP1|IREBP" "aconitate hydratase, cytoplasmic|soluble aconitase|cytosplasmic aconitase" IREB1 aconitase 1, soluble 1989-01-01 2015-12-01 2020-09-17 48 ENSG00000122729 OTTHUMG00000019740 uc003zqw.5 M58510 NM_002197 CCDS6525 P21399 "2172968|2771641" MGI:87879 RGD:2019 100880 469908 4.2.1.3 HGNC:117 "ENST00000309951.8|NM_002197.3" +HGNC:118 ACO2 aconitase 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 ACONM "aconitate hydratase, mitochondrial|mitochondrial aconitase" aconitase 2, mitochondrial 1986-01-01 2015-12-01 2021-05-26 50 ENSG00000100412 OTTHUMG00000030544 uc003bac.3 AH006514 NM_001098 CCDS14017 Q99798 10591208 MGI:87880 RGD:621360 100850 317699 4.2.1.3 HGNC:118 "ENST00000216254.9|NM_001098.3" HGNC:118 +HGNC:33904 ACOD1 aconitate decarboxylase 1 protein-coding gene gene with protein product Approved 13q22.3 13q22.3 CAD IRG1 immunoresponsive 1 homolog (mouse) 2007-11-27 2016-03-07 2016-03-07 2016-10-17 730249 ENSG00000102794 OTTHUMG00000017098 uc031qmi.3 NM_001258406 CCDS58299 A6NK06 "12893884|23610393" MGI:103206 RGD:1563454 615275 objectId:3018 4.1.1.6 HGNC:33904 "ENST00000377462.6|NM_001258406.2" +HGNC:33128 ACOT1 acyl-CoA thioesterase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "ACH2|CTE-1|LACH2" Acyl-CoA thioesterases 41 2006-08-30 2014-11-18 641371 ENSG00000184227 OTTHUMG00000171607 uc001xol.2 DQ082754 NM_001037161 CCDS32117 Q86TX2 "16103133|16940157" MGI:1349396 RGD:70894 614313 HGNC:33128 "ENST00000311148.9|NM_001037161.2" +HGNC:18431 ACOT2 acyl-CoA thioesterase 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "Mte1|ZAP128" mitochondrial acyl-CoA thioesterase 1 Acyl-CoA thioesterases 41 2005-09-08 2014-11-19 10965 ENSG00000119673 OTTHUMG00000171608 uc059ddl.1 "AY005822|AK001939" NM_006821 CCDS9816 P49753 "16103133|16940157" MGI:2159605 RGD:621055 609972 S09.942 HGNC:18431 "ENST00000238651.10|NM_006821.6" +HGNC:19748 ACOT4 acyl-CoA thioesterase 4 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ31235|PTE-Ib|PTE2B" Acyl-CoA thioesterases 41 2005-09-08 2016-10-05 122970 ENSG00000177465 OTTHUMG00000169485 uc001xoo.4 BC031799 NM_152331 CCDS9817 Q8N9L9 "16103133|16940157" MGI:2159621 RGD:1596753 614314 S09.943 HGNC:19748 "ENST00000326303.5|NM_152331.4" +HGNC:33159 ACOT6 acyl-CoA thioesterase 6 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 C14orf42 chromosome 14 open reading frame 42 Acyl-CoA thioesterases 41 2006-10-23 2015-09-21 641372 ENSG00000205669 OTTHUMG00000171609 uc001xop.3 "DQ082756|BF109853" NM_001037162 CCDS32118 Q3I5F7 16940157 MGI:1921287 RGD:1309669 614267 S09.944 HGNC:33159 "ENST00000645972.2|NM_001365788.1" +HGNC:24157 ACOT7 acyl-CoA thioesterase 7 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "BACH|ACH1|ACT|CTE-II|LACH1|MGC1126|hBACH" "brain acyl CoA hydrolase|Long chain acyl-CoA thioester hydrolase" Acyl-CoA thioesterases 41 2005-09-07 2021-10-20 11332 ENSG00000097021 OTTHUMG00000001295 uc001ams.4 AB074417 NM_007274 "CCDS66|CCDS30573|CCDS65|CCDS67" O00154 "10578051|16103133|16940157" MGI:1917275 RGD:628856 602587 3.1.2.2 HGNC:24157 "ENST00000361521.9|NM_007274.4" +HGNC:15919 ACOT8 acyl-CoA thioesterase 8 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "hACTE-III|hTE|PTE-2|NAP1" "choloyl-CoA hydrolase|Nef (lentivirus myristoylated factor) associated protein 1" PTE1 "peroxisomal acyl-CoA thioesterase|peroxisomal acyl-CoA thioesterase 1" Acyl-CoA thioesterases 41 2001-08-01 2005-09-19 2005-09-19 2015-10-16 10005 ENSG00000101473 OTTHUMG00000033045 uc002xqa.3 AF014404 NM_183386 CCDS13378 O14734 "10092594|9153233|16103133|16940157" MGI:2158201 RGD:70368 608123 3.1.2.27 HGNC:15919 "ENST00000217455.9|NM_005469.4" +HGNC:17152 ACOT9 acyl-CoA thioesterase 9 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "CGI-16|MT-ACT48|ACATE2" Acyl-CoA thioesterases 41 2005-09-08 2020-04-02 23597 ENSG00000123130 OTTHUMG00000021257 uc004dap.4 AF132950 NM_012332 "CCDS83460|CCDS35216|CCDS43924" Q9Y305 "10383425|10810093|16103133|16940157" MGI:1928939 RGD:1359188 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACOT9 300862 HGNC:17152 "ENST00000379303.10|NM_001037171.2" +HGNC:18156 ACOT11 acyl-CoA thioesterase 11 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "STARD14|BFIT|KIAA0707|BFIT1|THEM1" StAR-related lipid transfer (START) domain containing 14 THEA thioesterase, adipose associated "Acyl-CoA thioesterases|StAR related lipid transfer domain containing" "41|759" 2002-03-11 2005-09-08 2005-09-08 2014-11-18 26027 ENSG00000162390 OTTHUMG00000009891 uc001cxm.3 AB014607 NM_015547 "CCDS593|CCDS592" Q8WXI4 "11696000|16103133|16940157" MGI:1913736 RGD:2324815 606803 3.1.2.- HGNC:18156 "ENST00000343744.7|NM_147161.4" +HGNC:24436 ACOT12 acyl-CoA thioesterase 12 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "Cach|THEAL|STARD15" StAR-related lipid transfer (START) domain containing 15 "Acyl-CoA thioesterases|StAR related lipid transfer domain containing" "41|759" 2005-09-08 2014-11-18 134526 ENSG00000172497 OTTHUMG00000131305 uc003khl.5 AB078619 NM_130767 CCDS4055 Q8WYK0 "16103133|16940157" MGI:1921406 RGD:619752 614315 HGNC:24436 "ENST00000307624.8|NM_130767.3" +HGNC:20999 ACOT13 acyl-CoA thioesterase 13 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 HT012 THEM2 thioesterase superfamily member 2 Acyl-CoA thioesterases 41 2003-05-02 2009-05-05 2009-05-05 2016-10-05 55856 ENSG00000112304 OTTHUMG00000014359 uc003nek.4 AF220186 NM_018473 "CCDS54972|CCDS4558" Q9NPJ3 "16934754|19405909" MGI:1914084 RGD:1306513 615652 HGNC:20999 "ENST00000230048.5|NM_018473.4" +HGNC:119 ACOX1 acyl-CoA oxidase 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 PALMCOX palmitoyl-CoA oxidase "acyl-Coenzyme A oxidase 1, palmitoyl|acyl-CoA oxidase 1, palmitoyl" 1994-02-11 2016-06-01 2021-05-26 51 ENSG00000161533 OTTHUMG00000180027 uc002jqe.5 U03254 NM_001185039 "CCDS11734|CCDS11735" Q15067 8159712 MGI:1330812 RGD:619757 609751 117738 1.3.3.6 HGNC:119 "ENST00000293217.10|NM_004035.7" HGNC:119 +HGNC:120 ACOX2 acyl-CoA oxidase 2 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "BRCACOX|BRCOX|THCCox" "trihydroxycoprostanoyl-CoA oxidase|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase|branched chain acyl-CoA oxidase" "acyl-Coenzyme A oxidase 2, branched chain|acyl-CoA oxidase 2, branched chain" 1998-09-17 2016-06-01 2021-05-26 8309 ENSG00000168306 OTTHUMG00000159154 uc003dkl.4 X95190 NM_003500 CCDS33775 Q99424 "8943006|9070889" MGI:1934852 RGD:628684 601641 469910 1.17.99.3 HGNC:120 "ENST00000302819.10|NM_003500.4" HGNC:120 +HGNC:121 ACOX3 acyl-CoA oxidase 3, pristanoyl protein-coding gene gene with protein product Approved 4p16.1 04p16.1 acyl-Coenzyme A oxidase 3, pristanoyl 1998-09-17 2010-04-30 2020-09-17 8310 ENSG00000087008 OTTHUMG00000090509 uc003glc.5 Y11411 NM_001101667 "CCDS47017|CCDS3401" O15254 9271077 MGI:1933156 RGD:69245 603402 1.3.3.6 HGNC:121 "ENST00000356406.10|NM_003501.3" +HGNC:25621 ACOXL acyl-CoA oxidase like protein-coding gene gene with protein product Approved 2q13 02q13 FLJ11042 acyl-Coenzyme A oxidase-like 2004-02-13 2017-02-20 2017-02-20 55289 ENSG00000153093 OTTHUMG00000131257 uc021vmm.2 NM_018308 CCDS46389 Q9NUZ1 MGI:1921371 RGD:1306814 HGNC:25621 "ENST00000439055.6|NM_001142807.4" +HGNC:41112 ACOXL-AS1 ACOXL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q13 02q13 Antisense RNAs 1987 2016-11-11 2016-11-11 400997 ENSG00000204581 OTTHUMG00000153643 NR_122074 HGNC:41112 +HGNC:122 ACP1 acid phosphatase 1 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "HAAP|LMW-PTP|LMWPTP" "acid phosphatase of erythrocyte|low molecular weight phosphotyrosine protein phosphatase|red cell acid phosphatase" acid phosphatase 1, soluble "Class II Cys-based phosphatases|Acid phosphatases" "712|1071" 1986-01-01 2017-09-15 2020-09-17 52 ENSG00000143727 OTTHUMG00000086933 uc002qwg.4 M87546 NM_004300 "CCDS1639|CCDS46217|CCDS1640" P24666 "457131|1587862|8586411" MGI:87881 RGD:2020 171500 3.1.3.2 HGNC:122 "ENST00000272065.10|NM_004300.4" +HGNC:123 ACP2 acid phosphatase 2, lysosomal protein-coding gene gene with protein product Approved 11p11.2 11p11.2 LAP lysosomal acid phosphatase Acid phosphatases 1071 1986-01-01 2021-10-20 53 ENSG00000134575 OTTHUMG00000166949 uc001nei.3 X15525 NM_001610 "CCDS76404|CCDS76402|CCDS76403|CCDS7928" P11117 975882 MGI:87882 RGD:2021 171650 3.1.3.2 HGNC:123 "ENST00000672073.1|NM_001610.4" HGNC:123 +HGNC:125 ACP3 acid phosphatase 3 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "ACP-3|PAP|TM-PAP" prostatic acid phosphatase ACPP acid phosphatase, prostate Acid phosphatases 1071 1989-05-30 2019-09-19 2019-09-19 2020-09-17 55 ENSG00000014257 OTTHUMG00000159650 uc010htp.3 NM_001099 "CCDS77818|CCDS46916|CCDS3073" P15309 "1375464|2842184" MGI:1928480 RGD:2023 171790 3.1.3.2 HGNC:125 "ENST00000336375.10|NM_001099.5" +HGNC:14376 ACP4 acid phosphatase 4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 testicular acid phosphatase ACPT acid phosphatase, testicular Acid phosphatases 1071 2001-07-13 2017-06-23 2017-06-23 2021-05-26 93650 ENSG00000142513 OTTHUMG00000182961 uc002pta.1 AF321918 NM_033068 CCDS12802 Q9BZG2 11414767 MGI:3644563 RGD:1308270 606362 HGNC:14376 "ENST00000270593.2|NM_033068.3" HGNC:14376 +HGNC:124 ACP5 acid phosphatase 5, tartrate resistant protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TRAP|HPAP|TRAcP" "tartrate-resistant acid phosphatase|human purple acid phosphatase" Acid phosphatases 1071 1989-02-23 2022-02-10 54 ENSG00000102575 OTTHUMG00000182036 uc002msi.5 X14618 NM_001111034 CCDS12265 P13686 "8449511|2338077" MGI:87883 RGD:2022 LRG_1218|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1218.xml 171640 259358 3.1.3.2 HGNC:124 "ENST00000648477.1|NM_001611.5" HGNC:124 +HGNC:29609 ACP6 acid phosphatase 6, lysophosphatidic protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "LPAP|ACPL1" lysophosphatidic acid phosphatase Acid phosphatases 1071 2004-07-09 2016-10-05 51205 ENSG00000162836 OTTHUMG00000014019 uc001epr.3 BC009965 NM_016361 CCDS928 Q9NPH0 "12010880|10506173" MGI:1931010 RGD:1306336 611471 469912 HGNC:29609 "ENST00000583509.7|NM_016361.5" +HGNC:33781 ACP7 acid phosphatase 7, tartrate resistant (putative) protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ16165|PAPL1|PAPL" purple acid phosphatase long form 1 Acid phosphatases 1071 2015-11-18 2016-11-17 390928 ENSG00000183760 OTTHUMG00000182799 NM_001004318 "CCDS33018|CCDS86764" Q6ZNF0 16793224 MGI:2142121 RGD:1585399 610490 HGNC:33781 "ENST00000331256.10|NM_001004318.3" +HGNC:126 ACR acrosin protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "preproacrosin|acrosin light and heavy chain prepropeptide" 1989-05-19 2012-10-23 2020-09-17 49 ENSG00000100312 OTTHUMG00000150155 uc003bnh.5 CR456366 NM_001097 CCDS14101 P10323 "2298447|12398221" MGI:87884 RGD:2024 102480 S01.223 objectId:2327 3.4.21.10 HGNC:126 "ENST00000216139.10|NM_001097.3" +HGNC:17195 ACRBP acrosin binding protein protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "SP32|OY-TES-1|CT23" "proacrosin binding protein sp32|cancer/testis antigen 23" Armadillo like helical domain containing 1492 2001-11-19 2009-03-12 84519 ENSG00000111644 OTTHUMG00000168715 uc001qpu.2 AB051833 NM_032489 CCDS8554 Q8NEB7 11248070 MGI:1859515 RGD:1564880 608352 HGNC:17195 "ENST00000229243.7|NM_032489.3" +HGNC:54745 ACRP1 ACR pseudogene 1 pseudogene pseudogene Approved 2q14.1 02q14.1 2019-12-19 2020-01-21 645529 ENSG00000175509 NG_021518 +HGNC:127 ACRV1 acrosomal vesicle protein 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "SPACA2|SP-10|D11S4365" sperm protein 10 1991-06-07 2020-09-17 56 ENSG00000134940 OTTHUMG00000165854 uc001qcs.4 AK223335 NM_001612 "CCDS8461|CCDS44761|CCDS8460|CCDS44759" P26436 "1693291|8288254" MGI:104590 RGD:620153 102525 HGNC:127 "ENST00000533904.6|NM_001612.6" +HGNC:29567 ACSBG1 acyl-CoA synthetase bubblegum family member 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "BGM|FLJ30320|MGC14352|BG1|KIAA0631|hBG1|hsBG" "bubblegum|very long-chain acyl-CoA synthetase|lipidosin" Acyl-CoA synthetase family 40 2005-09-08 2018-05-03 23205 ENSG00000103740 OTTHUMG00000143734 uc002bdh.4 AB014531 NM_015162 CCDS10298 Q96GR2 "9734811|10954726" MGI:2385656 RGD:708557 614362 HGNC:29567 "ENST00000258873.9|NM_015162.5" +HGNC:24174 ACSBG2 acyl-CoA synthetase bubblegum family member 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "BGR|PRTD-NY3|DKFZp434K1635" bubblegum related protein Acyl-CoA synthetase family 40 2005-09-08 2018-05-03 81616 ENSG00000130377 OTTHUMG00000180754 uc002mef.3 NM_030924 "CCDS12159|CCDS74269|CCDS82282" Q5FVE4 11230166 MGI:3587728 RGD:1588580 614363 HGNC:24174 "ENST00000588485.6|NM_030924.5" +HGNC:26101 ACSF2 acyl-CoA synthetase family member 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ20920|ACSMW" Acyl-CoA synthetase family 40 2007-10-17 2015-08-26 80221 ENSG00000167107 OTTHUMG00000162128 uc002iqu.4 "AK024573|BC012053" NM_025149 "CCDS74103|CCDS11567|CCDS74104|CCDS74105" Q96CM8 17762044 MGI:2388287 RGD:1562656 610465 HGNC:26101 "ENST00000300441.9|NM_025149.6" +HGNC:27288 ACSF3 acyl-CoA synthetase family member 3 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 malonyl-CoA synthetase Acyl-CoA synthetase family 40 2007-10-17 2021-05-26 197322 ENSG00000176715 OTTHUMG00000138044 uc021tmq.2 AK075499 NM_174917 "CCDS10974|CCDS73926" Q4G176 "17762044|21846720" MGI:2182591 RGD:1586037 614245 289511 HGNC:27288 "ENST00000614302.5|NM_001243279.3" HGNC:27288 +HGNC:3569 ACSL1 acyl-CoA synthetase long chain family member 1 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "LACS2|LACS|ACS1|LACS1|FACL1" "lignoceroyl-CoA synthase|long-chain fatty-acid-coenzyme A ligase 1" FACL2 fatty-acid-Coenzyme A ligase, long-chain 2 Acyl-CoA synthetase family 40 1991-08-08 2004-02-20 2017-06-13 2017-06-13 2180 ENSG00000151726 OTTHUMG00000160547 uc063biw.1 BC026290 NM_001995 "CCDS3839|CCDS68826|CCDS68825" P33121 "2341402|1531127" MGI:102797 RGD:2015 152425 6.2.1.3 HGNC:3569 "ENST00000281455.7|NM_001995.5" +HGNC:3570 ACSL3 acyl-CoA synthetase long chain family member 3 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "ACS3|PRO2194" FACL3 fatty-acid-Coenzyme A ligase, long-chain 3 Acyl-CoA synthetase family 40 1997-04-25 2004-02-20 2017-06-13 2019-03-21 2181 ENSG00000123983 OTTHUMG00000133160 uc002vni.4 D89053 NM_004457 CCDS2455 O95573 21328461 MGI:1921455 RGD:70552 ACSL3 602371 HGNC:3570 "ENST00000357430.8|NM_004457.5" +HGNC:40227 ACSL3-AS1 ACSL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q36.1 02q36.1 Antisense RNAs 1987 2019-07-19 2019-07-19 105373904 ENSG00000234193 OTTHUMG00000153390 DB074600 XR_923949 HGNC:40227 +HGNC:3571 ACSL4 acyl-CoA synthetase long chain family member 4 protein-coding gene gene with protein product Approved Xq23 Xq23 "ACS4|LACS4" "lignoceroyl-CoA synthase|long-chain fatty-acid-Coenzyme A ligase 4" "FACL4|MRX63|MRX68" "fatty-acid-Coenzyme A ligase, long-chain 4|mental retardation, X-linked 63|mental retardation, X-linked 68" Acyl-CoA synthetase family 40 1997-05-09 2004-02-20 2017-06-13 2022-03-08 2182 ENSG00000068366 OTTHUMG00000022190 uc004eoi.3 BC034959 NM_004458 "CCDS14549|CCDS14548" O60488 "9480748|12949969" MGI:1354713 RGD:69401 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACSL4 300157 117743 HGNC:3571 "ENST00000672401.1|NM_001318510.2" HGNC:3571 +HGNC:16526 ACSL5 acyl-CoA synthetase long chain family member 5 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "ACS5|ACS2" "FACL5 for fatty acid coenzyme A ligase 5|long-chain acyl-CoA synthetase 5|long-chain fatty acid coenzyme A ligase 5|fatty-acid-Coenzyme A ligase, long-chain 5" FACL5 fatty-acid-Coenzyme A ligase, long-chain 5 Acyl-CoA synthetase family 40 2001-09-14 2004-02-20 2017-06-13 2017-06-13 51703 ENSG00000197142 OTTHUMG00000019060 uc001kzs.4 AB033899 NM_016234 "CCDS7572|CCDS7573" Q9ULC5 11127823 MGI:1919129 RGD:69402 605677 HGNC:16526 "ENST00000354655.9|NM_203379.2" +HGNC:16496 ACSL6 acyl-CoA synthetase long chain family member 6 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0837|ACS2|LACS5|LACS2" FACL6 fatty-acid-Coenzyme A ligase, long-chain 6 Acyl-CoA synthetase family 40 2001-09-14 2004-02-20 2017-06-13 2017-06-13 23305 ENSG00000164398 OTTHUMG00000150692 uc063gss.1 AB020644 NM_015256 "CCDS56383|CCDS56382|CCDS56381|CCDS34228|CCDS34229" Q9UKU0 "10502316|10548543" MGI:894291 RGD:69403 604443 HGNC:16496 "ENST00000651883.2|NM_001009185.3" +HGNC:40772 ACSL6-AS1 ACSL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 Antisense RNAs 1987 2019-07-19 2019-07-19 101927693 ENSG00000223548 OTTHUMG00000059638 XR_246584 HGNC:40772 +HGNC:18049 ACSM1 acyl-CoA synthetase medium chain family member 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 MACS1 BUCS1 butyryl Coenzyme A synthetase 1 Acyl-CoA synthetase family 40 2002-03-22 2005-09-08 2017-06-13 2017-06-13 116285 ENSG00000166743 OTTHUMG00000131550 uc010bwg.2 AB059429 NM_052956 CCDS10587 Q08AH1 "11470804|12654705" MGI:2152200 RGD:1306813 614357 6.2.1.2 HGNC:18049 "ENST00000520010.6|NM_001318890.3" +HGNC:32017 ACSM2A acyl-CoA synthetase medium chain family member 2A protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "A-923A4.1|MGC150530" ACSM2 acyl-CoA synthetase medium-chain family member 2 Acyl-CoA synthetase family 40 2007-06-20 2017-06-13 2020-06-09 123876 ENSG00000183747 OTTHUMG00000177401 uc002dhg.5 "AK091878|AK096039" NM_001308172 "CCDS76838|CCDS32401" Q08AH3 "19345228|29948332" MGI:2385289 RGD:708383 614358 HGNC:32017 "ENST00000573854.6|NM_001308172.2" +HGNC:30931 ACSM2B acyl-CoA synthetase medium chain family member 2B protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "HXMA|HYST1046" xenobiotic/medium chain fatty acid:CoA ligase ACSM2 acyl-CoA synthetase medium-chain family member 2 Acyl-CoA synthetase family 40 2005-09-08 2007-06-20 2017-06-13 2017-06-13 348158 ENSG00000066813 OTTHUMG00000131555 uc002dhk.5 AY160217 NM_182617 CCDS10586 Q68CK6 12616642 MGI:2385289 614359 HGNC:30931 "ENST00000329697.10|NM_001105069.2" +HGNC:10522 ACSM3 acyl-CoA synthetase medium chain family member 3 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 SA SAH "SA (rat hypertension-associated) homolog|SA hypertension-associated homolog (rat)" Acyl-CoA synthetase family 40 1994-08-23 2005-09-08 2017-06-13 2017-06-13 6296 ENSG00000005187 OTTHUMG00000131552 uc002dhr.4 D16350 NM_005622 "CCDS10589|CCDS45435" Q53FZ2 "7843754|7907320|11470804" MGI:99538 RGD:62086 145505 HGNC:10522 "ENST00000289416.10|NM_005622.4" +HGNC:32016 ACSM4 acyl-CoA synthetase medium chain family member 4 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 similar to olfactory specific medium-chain acyl CoA synthetase Acyl-CoA synthetase family 40 2007-10-17 2017-06-13 2018-05-03 341392 ENSG00000215009 OTTHUMG00000154975 uc001qsx.2 NM_001080454 CCDS44825 P0C7M7 17762044 MGI:2681844 RGD:727928 614360 HGNC:32016 "ENST00000399422.5|NM_001080454.2" +HGNC:26060 ACSM5 acyl-CoA synthetase medium chain family member 5 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 FLJ20581 Acyl-CoA synthetase family 40 2007-10-17 2017-06-13 2017-06-13 54988 ENSG00000183549 OTTHUMG00000131551 uc002dhe.4 NM_017888 "CCDS10585|CCDS81954" Q6NUN0 17762044 MGI:2444086 RGD:1309578 614361 HGNC:26060 "ENST00000331849.8|NM_017888.3" +HGNC:51295 ACSM5P1 acyl-CoA synthetase medium chain family member 5 pseudogene 1 pseudogene pseudogene Approved 16p12.3 16p12.3 2014-09-24 2017-07-24 2017-07-24 100421779 ENSG00000260762 OTTHUMG00000177228 NG_026352 HGNC:51295 +HGNC:31665 ACSM6 acyl-CoA synthetase medium chain family member 6 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 bA310E22.3 C10orf129 chromosome 10 open reading frame 129 Acyl-CoA synthetase family 40 2004-05-27 2014-05-29 2017-06-13 2017-06-13 142827 ENSG00000173124 OTTHUMG00000018808 NM_207321 CCDS7440 Q6P461 23884467 HGNC:31665 +HGNC:16091 ACSS1 acyl-CoA synthetase short chain family member 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ568C11.3|AceCS2L|MGC33843" ACAS2L acetyl-Coenzyme A synthetase 2 (AMP forming)-like Acyl-CoA synthetase family 40 2001-07-17 2005-09-08 2017-06-13 2019-03-22 84532 ENSG00000154930 OTTHUMG00000032112 uc061vwl.1 NM_032501 "CCDS58764|CCDS13167|CCDS58765" Q9NUB1 22313524 MGI:1915988 RGD:1306246 614355 6.2.1.1 HGNC:16091 "ENST00000323482.9|NM_032501.4" +HGNC:15814 ACSS2 acyl-CoA synthetase short chain family member 2 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "ACS|ACSA|AceCS|dJ1161H23.1" ACAS2 acetyl-Coenzyme A synthetase 2 (ADP forming) Acyl-CoA synthetase family 40 2001-09-17 2005-09-08 2017-06-13 2017-06-13 55902 ENSG00000131069 OTTHUMG00000032317 uc002xbd.3 AF263614 NM_018677 "CCDS13243|CCDS42868" Q9NR19 10843999 MGI:1890410 RGD:1305489 605832 objectId:3128 6.2.1.1 HGNC:15814 "ENST00000360596.7|NM_018677.4" +HGNC:24723 ACSS3 acyl-CoA synthetase short chain family member 3 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 FLJ21963 "Acyl-CoA synthetase family|MicroRNA protein coding host genes" "40|1691" 2007-10-17 2017-06-13 2017-06-13 79611 ENSG00000111058 OTTHUMG00000170179 uc001szl.2 NM_024560 "CCDS9022|CCDS81716" Q9H6R3 17762044 MGI:2685720 RGD:1307051 614356 HGNC:24723 "ENST00000548058.6|NM_024560.4" +HGNC:129 ACTA1 actin alpha 1, skeletal muscle protein-coding gene gene with protein product Approved 1q42.13 01q42.13 NEM3 nemaline myopathy type 3 ACTA Actins 929 1986-01-01 2019-01-10 2021-05-26 58 ENSG00000143632 OTTHUMG00000038006 uc001htm.4 J00068 NM_001100 CCDS1578 P68133 "10072583|6865942" MGI:87902 RGD:2025 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=ACTA1|LRG_429|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_429.xml" 102610 117750 HGNC:129 "ENST00000366684.7|NM_001100.4" HGNC:129 +HGNC:130 ACTA2 actin alpha 2, smooth muscle protein-coding gene gene with protein product Approved 10q23.31 10q23.31 ACTSA actin, alpha 2, smooth muscle, aorta Actins 929 1989-12-07 2019-01-10 2021-05-26 59 ENSG00000107796 OTTHUMG00000018700 uc001kfq.4 X13839 NM_001613 CCDS7392 P62736 2398629 MGI:87909 RGD:621676 LRG_781|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_781.xml 102620 138831 HGNC:130 "ENST00000224784.10|NM_001613.4" HGNC:130 +HGNC:45169 ACTA2-AS1 ACTA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 "uc001kfo.1|ZXF1|UC001kfo" Antisense RNAs 1987 2013-03-01 2018-08-15 100132116 ENSG00000180139 OTTHUMG00000018703 uc001kfo.2 "AK093340|AX748062" NR_125373 "24721325|28088733" ACTA2-AS1 HGNC:45169 +HGNC:132 ACTB actin beta protein-coding gene gene with protein product Approved 7p22.1 07p22.1 β-actin "Actins|BAF complex|PBAF complex|GBAF complex" "929|1604|1605|1606" 1986-01-01 2016-06-09 2021-05-26 60 ENSG00000075624 OTTHUMG00000023268 uc003sot.5 M28424 NM_001101 CCDS5341 P60709 1505215 MGI:87904 RGD:628837 LRG_132|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_132.xml 102630 159893 HGNC:132 "ENST00000646664.1|NM_001101.5" HGNC:132 +HGNC:17780 ACTBL2 actin beta like 2 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 DKFZp686D0972 actin, beta-like 2 Actins 929 2005-04-08 2019-01-10 2019-03-21 345651 ENSG00000169067 OTTHUMG00000162330 uc003jrm.3 NM_001017992 CCDS34163 Q562R1 25520667 MGI:2444552 RGD:1309504 614835 HGNC:17780 "ENST00000423391.3|NM_001017992.4" +HGNC:134 ACTBP1 ACTB pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 actin, beta pseudogene 1 1986-01-01 2019-01-10 2019-01-10 643309 ENSG00000229145 OTTHUMG00000021415 NG_022596 PGOHUM00000241261 HGNC:134 +HGNC:135 ACTBP2 ACTB pseudogene 2 pseudogene pseudogene Approved 5q14.1 05q14.1 actin, beta pseudogene 2 1986-01-01 2019-01-10 2019-01-10 62 ENSG00000213763 OTTHUMG00000162641 NG_003019 3837182 PGOHUM00000235667 HGNC:135 +HGNC:136 ACTBP3 ACTB pseudogene 3 pseudogene pseudogene Approved 18q21.33 18q21.33 actin, beta pseudogene 3 1986-01-01 2019-01-10 2019-01-10 63 NG_016990 3837182 HGNC:136 +HGNC:137 ACTBP4 ACTB pseudogene 4 pseudogene pseudogene Approved 5q31.1 05q31.1 actin, beta pseudogene 4 1986-01-01 2019-01-10 2020-04-07 64 ENSG00000286676 NG_003020 3837182 PGOHUM00000235394 HGNC:137 +HGNC:139 ACTBP6 ACTB pseudogene 6 pseudogene pseudogene Approved 8q21.2 08q21.2 actin, beta pseudogene 6 1988-08-16 2019-01-10 2019-01-10 66 ENSG00000203413 OTTHUMG00000164632 NG_008793 PGOHUM00000303609 HGNC:139 +HGNC:140 ACTBP7 ACTB pseudogene 7 pseudogene pseudogene Approved 15q15.3 15q15.3 actin, beta pseudogene 7 1995-12-13 2019-01-10 2019-01-10 67 ENSG00000185607 OTTHUMG00000060473 V00479 NG_002724 "6296793|6571702" PGOHUM00000292935 HGNC:140 +HGNC:141 ACTBP8 ACTB pseudogene 8 pseudogene pseudogene Approved 6q15 06q15 ACTBP2 actin, beta pseudogene 8 1995-12-13 2019-01-10 2019-01-10 68 ENSG00000220267 OTTHUMG00000015186 V00481 NG_000840 6296793 PGOHUM00000243288 HGNC:141 +HGNC:142 ACTBP9 ACTB pseudogene 9 pseudogene pseudogene Approved 18q21.33 18q21.33 actin, beta pseudogene 9 1995-12-13 2019-01-10 2019-01-10 69 ENSG00000266920 OTTHUMG00000180164 D50604 NG_003162 8941379 PGOHUM00000235085 HGNC:142 +HGNC:31819 ACTBP10 ACTB pseudogene 10 pseudogene pseudogene Approved 14q11.2 14q11.2 actin, beta pseudogene 10 2004-09-07 2019-01-10 2019-01-10 446207 NG_032756 HGNC:31819 +HGNC:33971 ACTBP11 ACTB pseudogene 11 pseudogene pseudogene Approved 1q41 01q41 actin, beta pseudogene 11 2008-01-31 2019-01-10 2019-01-10 644220 ENSG00000188460 OTTHUMG00000037470 NG_007577 PGOHUM00000296067 HGNC:33971 +HGNC:150 ACTBP12 ACTB pseudogene 12 pseudogene pseudogene Approved 1p22.1 01p22.1 ACTGP5 "actin, gamma pseudogene 5|actin, beta pseudogene 12" 1995-12-18 2009-12-16 2019-01-10 2019-01-10 100462767 ENSG00000233125 OTTHUMG00000010284 NG_026958 PGOHUM00000295746 HGNC:150 +HGNC:45086 ACTBP14 ACTB pseudogene 14 pseudogene pseudogene Approved 10q22.1 10q22.1 actin, beta pseudogene 14 2013-02-08 2019-01-10 2019-01-10 389976 ENSG00000229001 OTTHUMG00000018365 NG_022182 PGOHUM00000290195 HGNC:45086 +HGNC:55065 ACTBP15 ACTB pseudogene 15 pseudogene pseudogene Approved 22q13.2 22q13.2 2020-06-09 2020-06-09 391334 ENSG00000213857 NG_022872 PGOHUM00000297544 +HGNC:143 ACTC1 actin alpha cardiac muscle 1 protein-coding gene gene with protein product Approved 15q14 15q14 CMD1R ACTC actin, alpha, cardiac muscle Actins 929 1986-01-01 2006-08-24 2019-01-10 2021-05-26 70 ENSG00000159251 OTTHUMG00000129675 uc001ziu.2 BC009978 NM_005159 CCDS10041 P68032 1639426 MGI:87905 RGD:2026 LRG_388|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_388.xml 102540 117753 HGNC:143 "ENST00000290378.6|NM_005159.5" HGNC:143 +HGNC:51491 ACTE1P actin epsilon 1, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 2020-01-08 2020-02-19 2020-02-19 399923 ENSG00000172900 OTTHUMG00000155911 NR_038862 MGI:2685344 +HGNC:144 ACTG1 actin gamma 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "ACTG|DFNA20|DFNA26" "deafness, autosomal dominant 20|deafness, autosomal dominant 26" Actins 929 1988-06-27 2015-01-19 2021-05-26 71 ENSG00000184009 OTTHUMG00000177955 uc002kal.3 NM_001614 CCDS11782 P63261 14684684 MGI:87906 RGD:1304556 102560 166815 HGNC:144 "ENST00000573283.7|NM_001614.5" HGNC:144 +HGNC:146 ACTG1P1 actin gamma 1 pseudogene 1 pseudogene pseudogene Approved 3q23 03q23 "ACTGP1|ACT1GP1" actin, gamma pseudogene 1 1988-08-16 2009-12-11 2015-01-19 2015-01-19 73 ENSG00000178631 OTTHUMG00000150294 D50658 NG_001068 PGOHUM00000299613 HGNC:146 +HGNC:147 ACTG1P2 actin gamma 1 pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 "ACTL2|ACTGP2" actin, gamma pseudogene 2 1988-08-16 2009-12-14 2015-01-19 2015-01-19 74 ENSG00000229129 OTTHUMG00000041662 NG_004636 PGOHUM00000305494 HGNC:147 +HGNC:148 ACTG1P3 actin gamma 1 pseudogene 3 pseudogene pseudogene Approved 20p13 20p13 ACTGP3 actin, gamma pseudogene 3 1995-09-20 2009-12-14 2015-01-19 2015-01-19 75 ENSG00000215388 OTTHUMG00000031654 AF196978 NG_000842 8941379 PGOHUM00000297037 HGNC:148 +HGNC:149 ACTG1P4 actin gamma 1 pseudogene 4 pseudogene pseudogene Approved 1p21.1 01p21.1 ACTGP4 actin, gamma pseudogene 4 1995-12-18 2009-12-15 2015-01-19 2020-04-20 648740 ENSG00000236085 OTTHUMG00000011022 NR_024438 1692956 PGOHUM00000296428 HGNC:149 +HGNC:151 ACTG1P6 actin gamma 1 pseudogene 6 pseudogene pseudogene Approved 1p21 01p21 ACTGP6 actin, gamma pseudogene 6 1995-12-18 2009-12-16 2015-01-19 2015-01-19 78 1692956 +HGNC:152 ACTG1P7 actin gamma 1 pseudogene 7 pseudogene pseudogene Approved 1p21 01p21 ACTGP7 actin, gamma pseudogene 7 1995-12-18 2009-12-16 2015-01-19 2015-01-19 79 1692956 +HGNC:153 ACTG1P8 actin gamma 1 pseudogene 8 pseudogene pseudogene Approved 1p21 01p21 ACTGP8 actin, gamma pseudogene 8 1995-12-18 2009-12-16 2015-01-19 2015-01-19 80 1692956 +HGNC:154 ACTG1P9 actin gamma 1 pseudogene 9 pseudogene pseudogene Approved 6p12.3 06p12.3 ACTGP9 actin, gamma pseudogene 9 1996-07-15 2009-12-15 2015-01-19 2015-01-19 82 ENSG00000229349 OTTHUMG00000014780 D50659 NG_001069 PGOHUM00000301804 HGNC:154 +HGNC:155 ACTG1P10 actin gamma 1 pseudogene 10 pseudogene pseudogene Approved Xp11.22 Xp11.22 "ACTL1|ACTGP10" "actin-like 1|actin, gamma pseudogene 10" 1986-01-01 2009-12-15 2015-01-19 2015-01-19 83 ENSG00000231340 OTTHUMG00000021601 AL139396 NG_003039 6592095 PGOHUM00000304636 HGNC:155 +HGNC:37651 ACTG1P11 actin gamma 1 pseudogene 11 pseudogene pseudogene Approved Yq11.222 Yq11.222 2009-12-16 2015-01-19 2015-01-19 414754 ENSG00000229465 OTTHUMG00000041957 NG_004636 PGOHUM00000305682 HGNC:37651 +HGNC:44496 ACTG1P12 actin gamma 1 pseudogene 12 pseudogene pseudogene Approved 3p25.2 03p25.2 2012-11-12 2015-01-19 2015-01-19 100418921 ENSG00000226642 OTTHUMG00000155334 NG_011728 PGOHUM00000299346 HGNC:44496 +HGNC:49058 ACTG1P13 actin gamma 1 pseudogene 13 pseudogene pseudogene Approved 3q12.1 03q12.1 2013-08-19 2015-01-19 2015-03-10 100418920 ENSG00000241305 OTTHUMG00000159398 NG_025603 PGOHUM00000299101 HGNC:49058 +HGNC:49751 ACTG1P14 actin gamma 1 pseudogene 14 pseudogene pseudogene Approved 9p24.1 09p24.1 2014-02-13 2015-01-19 2015-01-19 100418910 ENSG00000230581 OTTHUMG00000019534 NG_023870 PGOHUM00000304104 HGNC:49751 +HGNC:51495 ACTG1P15 actin gamma 1 pseudogene 15 pseudogene pseudogene Approved 15q14 15q14 2015-01-19 2015-01-19 100418951 ENSG00000259904 OTTHUMG00000173385 NG_025296 PGOHUM00000292902 HGNC:51495 +HGNC:51496 ACTG1P16 actin gamma 1 pseudogene 16 pseudogene pseudogene Approved 16q12.1 16q12.1 2015-01-19 2015-01-19 100418960 ENSG00000260298 OTTHUMG00000173450 NG_026370 PGOHUM00000293608 HGNC:51496 +HGNC:51497 ACTG1P17 actin gamma 1 pseudogene 17 pseudogene pseudogene Approved 15q25.2 15q25.2 2015-01-19 2015-01-22 283693 ENSG00000259315 OTTHUMG00000172407 NR_036446 PGOHUM00000293043 HGNC:51497 +HGNC:51498 ACTG1P18 actin gamma 1 pseudogene 18 pseudogene pseudogene Approved 6q16.3 06q16.3 2015-01-19 2015-01-19 100418924 ENSG00000218475 OTTHUMG00000015280 NG_025850 PGOHUM00000301490 HGNC:51498 +HGNC:51499 ACTG1P19 actin gamma 1 pseudogene 19 pseudogene pseudogene Approved 9q31.1 09q31.1 2015-01-19 2015-01-19 644160 ENSG00000237999 OTTHUMG00000020369 NG_021670 PGOHUM00000304420 HGNC:51499 +HGNC:51500 ACTG1P20 actin gamma 1 pseudogene 20 pseudogene pseudogene Approved 1p36.11 01p36.11 2015-01-19 2015-01-19 644961 ENSG00000241547 OTTHUMG00000004411 NR_033926 PGOHUM00000296261 HGNC:51500 +HGNC:51501 ACTG1P21 actin gamma 1 pseudogene 21 pseudogene pseudogene Approved 1p31.1 01p31.1 2015-01-19 2015-01-19 100131291 ENSG00000232672 OTTHUMG00000039957 NG_022723 PGOHUM00000295723 HGNC:51501 +HGNC:51502 ACTG1P22 actin gamma 1 pseudogene 22 pseudogene pseudogene Approved 2p16.1 02p16.1 2015-01-19 2015-01-19 100131953 ENSG00000271615 OTTHUMG00000184337 NG_021565 PGOHUM00000298443 HGNC:51502 +HGNC:51503 ACTG1P23 actin gamma 1 pseudogene 23 pseudogene pseudogene Approved 3q26.31 03q26.31 2015-01-19 2015-01-19 442097 ENSG00000230362 OTTHUMG00000157141 NG_022227 PGOHUM00000299277 HGNC:51503 +HGNC:49661 ACTG1P24 actin gamma 1 pseudogene 24 pseudogene pseudogene Approved 17p11.2 17p11.2 POTENP POTE ankyrin domain family, member N, pseudogene 2014-01-30 2015-01-26 2015-01-26 2015-01-26 441783 ENSG00000226359 OTTHUMG00000059280 NG_022456 PGOHUM00000237244 HGNC:49661 +HGNC:54872 ACTG1P25 actin gamma 1 pseudogene 25 pseudogene pseudogene Approved 1q32.1 01q32.1 AGPG 2020-04-02 2020-04-02 148709 ENSG00000234996 NR_002929 32198345 +HGNC:145 ACTG2 actin gamma 2, smooth muscle protein-coding gene gene with protein product Approved 2p13.1 02p13.1 ACTSG "ACTL3|ACTA3" actin, gamma 2, smooth muscle, enteric Actins 929 1989-12-07 2019-01-10 2021-05-26 72 ENSG00000163017 OTTHUMG00000129813 uc002sjw.4 NM_001615 "CCDS1930|CCDS56124" P63267 "1710027|1673027" MGI:104589 RGD:2027 102545 320793 HGNC:145 "ENST00000345517.8|NM_001615.4" HGNC:145 +HGNC:24124 ACTL6A actin like 6A protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "Actl6|BAF53A|Arp4|Baf53a|INO80K|SMARCN1" "BAF complex 53 kDa subunit|BRG1-associated factor 53A|actin-related protein 4|INO80 complex subunit K" "INO80 complex |SRCAP complex|Actin related proteins|BAF complex|PBAF complex|GBAF complex|Tip60/Nua4 histone acetyltransferase complex subunits" "595|1329|1436|1604|1605|1606|1634" 2004-07-12 2015-11-17 2021-07-23 86 ENSG00000136518 OTTHUMG00000157782 uc003fjw.4 AK098691 NM_004301 "CCDS3231|CCDS43174" O96019 "9845365|10380635" MGI:1861453 RGD:1307747 604958 HGNC:24124 "ENST00000429709.7|NM_004301.5" HGNC:24124 +HGNC:160 ACTL6B actin like 6B protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "BAF53B|SMARCN2" ACTL6 actin-like 6 "Actin related proteins|BAF complex|PBAF complex|GBAF complex" "1436|1604|1605|1606" 1998-06-01 2004-07-14 2015-11-17 2021-07-23 51412 ENSG00000077080 OTTHUMG00000159661 uc003uvy.4 AB015906 NM_016188 CCDS5702 O94805 9799793 MGI:1933548 RGD:1307763 612458 HGNC:160 "ENST00000160382.10|NM_016188.5" HGNC:160 +HGNC:161 ACTL7A actin like 7A protein-coding gene gene with protein product Approved 9q31.3 09q31.3 Actin related proteins 1436 1999-07-14 2015-11-17 2020-09-17 10881 ENSG00000187003 OTTHUMG00000020461 uc004bdj.3 BC014610 NM_006687 CCDS6772 Q9Y615 10373328 MGI:1343051 RGD:1304697 604303 HGNC:161 "ENST00000333999.5|NM_006687.4" HGNC:161 +HGNC:162 ACTL7B actin like 7B protein-coding gene gene with protein product Approved 9q31.3 09q31.3 Tact1 Actin related proteins 1436 1999-07-14 2015-11-17 2020-09-17 10880 ENSG00000148156 OTTHUMG00000020462 uc004bdi.4 BC033789 NM_006686 CCDS6771 Q9Y614 "10373328|12907721" MGI:1343053 RGD:1305655 604304 HGNC:162 "ENST00000374667.5|NM_006686.4" +HGNC:24018 ACTL8 actin like 8 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 CT57 cancer/testis antigen 57 Actin related proteins 1436 2005-05-19 2015-11-17 2019-03-22 81569 ENSG00000117148 OTTHUMG00000002512 uc001bat.3 AK057339 NM_030812 CCDS183 Q9H568 30535476 HGNC:24018 "ENST00000375406.2|NM_030812.3" +HGNC:28494 ACTL9 actin like 9 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC33407 Actin related proteins 1436 2009-05-15 2015-11-17 2015-11-17 284382 ENSG00000181786 OTTHUMG00000182194 uc032hly.2 NM_178525 CCDS12207 Q8TC94 MGI:1916731 RGD:1306886 619251 HGNC:28494 "ENST00000324436.5|NM_178525.5" HGNC:28494 +HGNC:16127 ACTL10 actin like 10 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 C20orf134 chromosome 20 open reading frame 134 Actin related proteins 1436 2001-07-17 2011-11-24 2015-11-17 2021-08-17 170487 ENSG00000288649 OTTHUMG00000032262 uc002wzt.3 AL121906 NM_001024675 CCDS33463 Q5JWF8 MGI:1917612 RGD:6491130 HGNC:16127 "ENST00000677665.1|NM_001024675.2" +HGNC:44626 ACTL11P actin like 11, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 ACTBP13 "actin, beta pseudogene 13|ACTB pseudogene 13" 2012-11-21 2020-08-14 2020-08-14 2020-08-14 389120 ENSG00000234667 OTTHUMG00000154689 NG_028183 MGI:1914972 PGOHUM00000237624 HGNC:44626 +HGNC:163 ACTN1 actinin alpha 1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 Actinins 1112 1990-08-21 2016-01-18 2021-05-26 87 ENSG00000072110 OTTHUMG00000171386 uc001xkl.4 M95178 NM_001102 "CCDS45129|CCDS9792|CCDS45130" P12814 2349951 MGI:2137706 RGD:70907 LRG_886|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_886.xml 102575 330666 HGNC:163 "ENST00000394419.9|NM_001130004.2" HGNC:163 +HGNC:20131 ACTN1-DT ACTN1 divergent transcript non-coding RNA RNA, long non-coding Approved 14q24.1 14q24.1 "C14orf84|ACTN1-AS1" "chromosome 14 open reading frame 84|ACTN1 antisense RNA 1 (non-protein coding)|ACTN1 antisense RNA 1" Divergent transcripts 1990 2002-12-18 2021-01-14 2021-01-14 2021-01-14 161159 ENSG00000259062 OTTHUMG00000171698 uc031qpf.1 "DB029126|AI147349" NR_073422 ACTN1-AS1 HGNC:20131 +HGNC:164 ACTN2 actinin alpha 2 protein-coding gene gene with protein product Approved 1q43 01q43 Actinins 1112 1991-07-16 2016-01-18 2021-05-26 88 ENSG00000077522 OTTHUMG00000040059 uc001hyf.4 BC047901 NM_001103 "CCDS73053|CCDS60455|CCDS1613" P35609 1339456 MGI:109192 RGD:1308097 LRG_436|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_436.xml 102573 159192 HGNC:164 "ENST00000366578.6|NM_001103.4" HGNC:164 +HGNC:165 ACTN3 actinin alpha 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "actinin, alpha 3|actinin alpha 3 (gene/pseudogene)" Actinins 1112 1991-07-16 2020-05-01 2020-11-17 89 ENSG00000248746 OTTHUMG00000160815 uc021qlz.4 M86407 NM_001104 "CCDS53663|CCDS76439" Q08043 "1339456|17828264" MGI:99678 RGD:621792 102574 HGNC:165 "ENST00000513398.2|NM_001104.4" +HGNC:166 ACTN4 actinin alpha 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FSGS1 focal segmental glomerulosclerosis 1 Actinins 1112 1992-03-26 2016-01-18 2021-05-26 81 ENSG00000130402 OTTHUMG00000137382 uc002oja.3 D89980 NM_001322033 CCDS12518 O43707 "9461087|10700177" MGI:1890773 RGD:61816 604638 117757 HGNC:166 "ENST00000252699.7|NM_004924.6" HGNC:166 +HGNC:44028 ACTN4P1 actinin alpha 4 pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 2012-05-28 2016-01-18 2016-01-18 344978 ENSG00000213493 OTTHUMG00000161135 NG_022074 PGOHUM00000246045 HGNC:44028 +HGNC:44032 ACTN4P2 actinin alpha 4 pseudogene 2 pseudogene pseudogene Approved 1p34.3 01p34.3 2012-05-28 2016-01-18 2016-01-18 391026 ENSG00000214141 OTTHUMG00000004315 PGOHUM00000244676 HGNC:44032 +HGNC:51621 ACTP1 actin family pseudogene 1 pseudogene pseudogene Approved 2q12.3 02q12.3 2015-03-26 2018-05-23 106480335 ENSG00000229890 OTTHUMG00000153365 NG_044542 PGOHUM00000298612 HGNC:51621 +HGNC:167 ACTR1A actin related protein 1A protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "ARP1|Arp1A" centractin alpha "ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)|ARP1 actin-related protein 1 homolog A, centractin alpha|ARP1 actin related protein 1 homolog A" "Dynactin subunits|Actin related proteins" "943|1436" 1999-05-17 2019-01-10 2020-09-17 10121 ENSG00000138107 OTTHUMG00000018956 uc001kvv.4 X82206 NM_005736 CCDS7536 P61163 1528266 MGI:1858964 RGD:1307025 605143 HGNC:167 "ENST00000369905.9|NM_005736.4" +HGNC:54703 ACTR1AP1 ACTR1A pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 2019-12-05 2020-01-21 100287074 ENSG00000233370 NG_021577 +HGNC:168 ACTR1B actin related protein 1B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 Arp1B centractin beta CTRN2 "ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)|ARP1 actin-related protein 1 homolog B, centractin beta|ARP1 actin related protein 1 homolog B" Actin related proteins 1436 1999-05-17 2019-01-10 2020-09-17 10120 ENSG00000115073 OTTHUMG00000130549 uc002syb.3 X82207 NM_005735 CCDS2033 P42025 "7696711|10343100" MGI:1917446 RGD:1307380 605144 HGNC:168 "ENST00000289228.7|NM_005735.4" +HGNC:169 ACTR2 actin related protein 2 protein-coding gene gene with protein product Approved 2p14 02p14 ARP2 "ARP2 (actin-related protein 2, yeast) homolog|ARP2 actin-related protein 2 homolog (yeast)|ARP2 actin related protein 2 homolog" "Actin related protein 2/3 complex subunits|Actin related proteins" "39|1436" 1999-05-17 2019-01-10 2020-09-17 10097 ENSG00000138071 OTTHUMG00000129540 uc002sdq.4 AF006082 NM_001005386 "CCDS1881|CCDS46307" P61160 9230079 MGI:1913963 RGD:1310826 604221 HGNC:169 "ENST00000260641.10|NM_005722.4" +HGNC:170 ACTR3 actin related protein 3 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 ARP3 "ARP3 (actin-related protein 3, yeast) homolog|ARP3 actin-related protein 3 homolog (yeast)|ARP3 actin related protein 3 homolog" "Actin related protein 2/3 complex subunits|Actin related proteins" "39|1436" 1999-05-17 2019-01-10 2020-09-17 10096 ENSG00000115091 OTTHUMG00000153497 uc002tkx.3 AF006083 NM_005721 "CCDS63000|CCDS33277" P61158 9230079 MGI:1921367 RGD:71024 604222 HGNC:170 "ENST00000263238.7|NM_005721.5" +HGNC:53965 ACTR3-AS1 ACTR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 AC104653.1 Antisense RNAs 1987 2018-07-05 2018-07-05 101060091 ENSG00000228857 NR_110174 29959764 HGNC:53965 +HGNC:17256 ACTR3B actin related protein 3B protein-coding gene gene with protein product Approved 7q36.1-q36.2 07q36.1-q36.2 "ARP11|ARP3beta" "ARP3 actin-related protein 3 homolog B (yeast)|ARP3 actin related protein 3 homolog B" Actin related proteins 1436 2005-05-19 2019-01-10 2019-01-10 57180 ENSG00000133627 OTTHUMG00000151463 uc003wle.3 NM_020445 "CCDS87568|CCDS34782|CCDS5934" Q9P1U1 10806390 MGI:2661120 RGD:1565759 HGNC:17256 "ENST00000256001.13|NM_020445.6" +HGNC:37724 ACTR3BP1 ACTR3B pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 1 2010-02-05 2013-09-12 2015-01-19 643050 ENSG00000270242 OTTHUMG00000185098 NG_005799 PGOHUM00000233948 HGNC:37724 +HGNC:38677 ACTR3BP2 ACTR3B pseudogene 2 pseudogene pseudogene Approved 2p11.1 02p11.1 FKSG73 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 2 2010-07-20 2013-09-12 2014-11-19 440888 ENSG00000226481 OTTHUMG00000155085 NR_027714 PGOHUM00000240774 HGNC:38677 +HGNC:38678 ACTR3BP3 ACTR3B pseudogene 3 pseudogene pseudogene Approved 16p11.2 16p11.2 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 3 2010-07-20 2013-09-12 2015-01-19 647156 ENSG00000260327 OTTHUMG00000176495 NG_005800 PGOHUM00000248822 HGNC:38678 +HGNC:38681 ACTR3BP4 ACTR3B pseudogene 4 pseudogene pseudogene Approved 4q24 04q24 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 4 2010-07-20 2013-09-12 2014-11-19 777774 ENSG00000249283 OTTHUMG00000161015 NG_008662 PGOHUM00000246015 HGNC:38681 +HGNC:38682 ACTR3BP5 ACTR3B pseudogene 5 pseudogene pseudogene Approved 10p11.1 10p11.1 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 5 2010-07-20 2013-09-12 2014-11-19 399746 ENSG00000227264 OTTHUMG00000018000 NR_045000 PGOHUM00000238743 HGNC:38682 +HGNC:38683 ACTR3BP6 ACTR3B pseudogene 6 pseudogene pseudogene Approved 22q11.1 22q11.1 ARP3 actin-related protein 3 homolog B (yeast) pseudogene 6 2010-07-20 2013-09-12 2020-05-13 644773 ENSG00000280263 OTTHUMG00000140398 NG_005801 PGOHUM00000246380 HGNC:38683 +HGNC:54971 ACTR3BP7 ACTR3B pseudogene 7 pseudogene pseudogene Approved 22p11.2 22p11.2 2020-05-13 2020-05-13 100289004 ENSG00000226444 NG_068497 PGOHUM00000297571 +HGNC:37282 ACTR3C actin related protein 3C protein-coding gene gene with protein product Approved 7q36.1 07q36.1 ARP11 "ARP3 actin-related protein 3 homolog C (yeast)|ARP3 actin related protein 3 homolog C" Actin related proteins 1436 2009-09-23 2019-01-10 2019-01-10 653857 ENSG00000106526 OTTHUMG00000158323 uc003wgu.3 NM_001164458 CCDS47744 Q9C0K3 "11162478|14651955" MGI:2661120 HGNC:37282 "ENST00000683684.1|NM_001164458.2" +HGNC:31820 ACTR3P1 ACTR3 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 ARP3 actin-related protein 3 homolog (yeast) pseudogene 1 2004-09-07 2013-09-12 2020-04-20 100288580 NG_023029 PGOHUM00000247736 HGNC:31820 +HGNC:38676 ACTR3P2 ACTR3 pseudogene 2 pseudogene pseudogene Approved Xq13.1 Xq13.1 ARP3 actin-related protein 3 homolog (yeast) pseudogene 2 2010-07-20 2013-09-12 2014-11-19 100129013 ENSG00000232267 OTTHUMG00000021749 NG_022669 PGOHUM00000241828 HGNC:38676 +HGNC:38679 ACTR3P3 ACTR3 pseudogene 3 pseudogene pseudogene Approved 3q12.2 03q12.2 ARP3 actin-related protein 3 homolog (yeast) pseudogene 3 2010-07-20 2013-09-12 2014-11-19 100128020 ENSG00000242573 OTTHUMG00000159092 NG_022261 PGOHUM00000238117 HGNC:38679 +HGNC:14671 ACTR5 actin related protein 5 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "FLJ12785|Arp5|INO80M" INO80 complex subunit M "ARP5 (actin-related protein 5, yeast) homolog|ARP5 actin-related protein 5 homolog (yeast)|ARP5 actin related protein 5 homolog" "INO80 complex |Actin related proteins" "595|1436" 2001-06-11 2019-01-10 2019-01-10 79913 ENSG00000101442 OTTHUMG00000032456 uc002xjd.3 AK022847 NM_024855 CCDS13308 Q9H9F9 16230350 MGI:1924748 RGD:1307958 619730 HGNC:14671 "ENST00000243903.6|NM_024855.4" +HGNC:24025 ACTR6 actin related protein 6 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "ARP6|FLJ13433" "ARP6 actin-related protein 6 homolog (yeast)|ARP6 actin related protein 6 homolog" "SRCAP complex|Actin related proteins" "1329|1436" 2004-03-23 2019-01-10 2019-01-10 64431 ENSG00000075089 OTTHUMG00000170245 uc001thb.3 AF212251 NM_022496 CCDS9074 Q9GZN1 11368909 MGI:1914269 RGD:1304609 619729 HGNC:24025 "ENST00000188312.7|NM_022496.5" +HGNC:44210 ACTR6P1 ACTR6 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 ARP6 actin-related protein 6 homolog (yeast) pseudogene 1 2012-07-09 2013-09-12 2013-09-12 100421495 ENSG00000248915 OTTHUMG00000160993 NG_025147 PGOHUM00000261381 HGNC:44210 +HGNC:14672 ACTR8 actin related protein 8 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "INO80N|ARP8" INO80 complex subunit N "ARP8 (actin-related protein 8, yeast) homolog|ARP8 actin related protein 8 homolog" "INO80 complex |Actin related proteins" "595|1436" 2001-06-11 2019-01-10 2019-01-10 93973 ENSG00000113812 OTTHUMG00000158279 uc003dhd.4 NM_022899 CCDS2875 Q9H981 "18163988|16230350" MGI:1860775 RGD:1311878 619716 HGNC:14672 "ENST00000335754.8|NM_022899.5" +HGNC:17372 ACTR10 actin related protein 10 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "HARP11|ACTR11|Arp11|Arp10" "actin-related protein 10 homolog (S. cerevisiae)|actin related protein 10 homolog" "Dynactin subunits|Actin related proteins" "943|1436" 2003-01-24 2019-01-10 2019-01-10 55860 ENSG00000131966 OTTHUMG00000171049 uc001xdf.4 AF220190 NM_018477 CCDS32090 Q9NZ32 12857853 MGI:1891654 RGD:1306515 619731 HGNC:17372 "ENST00000254286.9|NM_018477.3" +HGNC:24027 ACTRT1 actin related protein T1 protein-coding gene gene with protein product Approved Xq25 Xq25 "AIP1|KIAA0705|ARIP1|Arp-T1" Actin related proteins 1436 2005-11-22 2016-03-15 2020-04-02 139741 ENSG00000123165 OTTHUMG00000022359 uc004eum.4 AF440739 NM_138289 CCDS14611 Q8TDG2 12243744 MGI:1920610 RGD:1359559 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ACTRT1 300487 HGNC:24027 "ENST00000371124.5|NM_138289.4" +HGNC:55127 ACTRT1P1 ACTRT1 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2020-07-02 2020-07-02 100128268 ENSG00000235239 NG_011795 +HGNC:24026 ACTRT2 actin related protein T2 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "Arp-T2|ARPM2|FLJ25424|ACTRT2" Actin related proteins 1436 2005-11-22 2015-12-01 2022-03-22 140625 ENSG00000169717 OTTHUMG00000000562 uc001ajz.4 "AF440740|AB057364" NM_080431 CCDS45 Q8TDY3 "11750065|12243744" MGI:1920603 RGD:1359657 608535 HGNC:24026 "ENST00000378404.4|NM_080431.5" +HGNC:24022 ACTRT3 actin related protein T3 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 ARPM1 actin related protein M1 Actin related proteins 1436 2012-04-10 2016-03-15 2016-10-24 84517 ENSG00000184378 OTTHUMG00000184025 uc003ffs.3 AK055346 NM_032487 CCDS3206 Q9BYD9 "11750065|18692047" MGI:1923902 RGD:1561457 608534 HGNC:24022 "ENST00000330368.3|NM_032487.5" +HGNC:171 ACVR1 activin A receptor type 1 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "SKR1|ALK2|ACVR1A" ACVRLK2 activin A receptor, type I Type 1 receptor serine/threonine kinases 345 1994-01-10 2016-03-07 2021-05-26 90 ENSG00000115170 OTTHUMG00000131967 uc010fog.3 NM_001105 CCDS2206 Q04771 8397373 MGI:87911 RGD:620200 ACVR1 102576 117759 objectId:1785 HGNC:171 "ENST00000434821.7|NM_001111067.4" HGNC:171 +HGNC:172 ACVR1B activin A receptor type 1B protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "ALK4|SKR2|ActRIB" ACVRLK4 activin A receptor, type IB Type 1 receptor serine/threonine kinases 345 1994-12-12 2016-03-07 2020-09-17 91 ENSG00000135503 OTTHUMG00000167920 uc001rzn.4 NM_020328 "CCDS44893|CCDS44894|CCDS8816" P36896 8397373 MGI:1338944 RGD:735207 601300 objectId:1787 HGNC:172 "ENST00000257963.9|NM_004302.5" HGNC:172 +HGNC:18123 ACVR1C activin A receptor type 1C protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "ALK7|ACVRLK7" activin A receptor, type IC Type 1 receptor serine/threonine kinases 345 2003-07-21 2016-03-07 2019-03-21 130399 ENSG00000123612 OTTHUMG00000131964 uc002tzk.5 BC022530 NM_145259 "CCDS46432|CCDS2205|CCDS46434|CCDS46433" Q8NER5 12063393 MGI:2661081 RGD:621789 608981 objectId:1790 HGNC:18123 "ENST00000243349.13|NM_145259.3" +HGNC:173 ACVR2A activin A receptor type 2A protein-coding gene gene with protein product Approved 2q22.3-q23.1 02q22.3-q23.1 ACTRII ACVR2 "activin A receptor, type II|activin A receptor, type IIA" Type 2 receptor serine/threonine kinases 346 1993-09-17 2005-05-10 2016-03-07 2020-09-17 92 ENSG00000121989 OTTHUMG00000150603 uc002twh.5 NM_001616 "CCDS63030|CCDS33301" P27037 "1314589|10702675" MGI:102806 RGD:70911 ACVR2A 102581 objectId:1791 HGNC:173 "ENST00000241416.12|NM_001616.5" +HGNC:174 ACVR2B activin A receptor type 2B protein-coding gene gene with protein product Approved 3p22.2 03p22.2 ActR-IIB activin A receptor, type IIB Type 2 receptor serine/threonine kinases 346 1997-03-19 2016-03-07 2021-05-26 93 ENSG00000114739 OTTHUMG00000131291 uc003cif.4 X77533 NM_001106 CCDS2679 Q13705 "8161782|9621519" MGI:87912 RGD:2028 602730 159918 objectId:1792 HGNC:174 "ENST00000352511.5|NM_001106.4" HGNC:174 +HGNC:44161 ACVR2B-AS1 ACVR2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.2 03p22.2 ACVR2B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100128640 ENSG00000229589 OTTHUMG00000156031 uc003cie.2 AK025619 NR_028389 ACVR2B-AS1 HGNC:44161 +HGNC:175 ACVRL1 activin A receptor like type 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HHT2|ALK1|HHT" activin receptor-like kinase 1 "ACVRLK1|ORW2" "activin A receptor type II-like 1|activin A receptor type IL" Type 1 receptor serine/threonine kinases 345 1994-12-12 2016-03-07 2021-05-26 94 ENSG00000139567 OTTHUMG00000169507 uc001rzj.4 L17075 NM_000020 CCDS31804 P37023 "8397373|8640225|22718755" MGI:1338946 RGD:2029 "Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database|http://www.hhtmutation.org/|LRG_543|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_543.xml" 601284 117764 objectId:1784 2.7.11.30 HGNC:175 "ENST00000388922.9|NM_000020.3" HGNC:175 +HGNC:177 ACY1 aminoacylase 1 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 M20 metallopeptidases 1443 1986-01-01 2021-05-26 95 ENSG00000243989 OTTHUMG00000157815 uc003dcp.4 L07548 NM_000666 "CCDS56261|CCDS56263|CCDS56262|CCDS2844" Q03154 "1707030|6948533" MGI:87913 RGD:2030 104620 159895 M20.973 3.5.1.14 HGNC:177 "ENST00000636358.2|NM_000666.3" HGNC:177 +HGNC:24104 ACY3 aminoacylase 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "HCBP1|MGC9740|ACY-3" N-acyl-aromatic-L-amino acid amidohydrolase aspartoacylase (aminoacylase) 3 2004-08-10 2015-03-09 2015-03-09 91703 ENSG00000132744 OTTHUMG00000167283 uc001omq.3 BC008689 NM_080658 CCDS8175 Q96HD9 14656720 MGI:1918920 RGD:1305394 614413 3.5.1.114 HGNC:24104 "ENST00000255082.8|NM_080658.2" +HGNC:179 ACYP1 acylphosphatase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 acylphosphatase 1, erythrocyte (common) type 1998-04-21 2016-02-26 2020-09-17 97 ENSG00000119640 OTTHUMG00000171767 uc001xrg.4 X84194 NM_001107 "CCDS9838|CCDS76706" P07311 "7796909|9730610" MGI:1913454 RGD:1311327 600875 3.6.1.7 HGNC:179 "ENST00000238618.8|NM_001107.5" +HGNC:180 ACYP2 acylphosphatase 2 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 acylphosphatase 2, muscle type 1998-04-21 2016-02-26 2020-09-17 98 ENSG00000170634 OTTHUMG00000129287 uc002rxq.5 X84195 NM_001320586 "CCDS1850|CCDS82452" P14621 "8268218|25665007" MGI:1922822 RGD:1595836 102595 3.6.1.7 HGNC:180 "ENST00000607452.6|NM_001320586.2" +HGNC:186 ADA adenosine deaminase protein-coding gene gene with protein product Approved 20q13.12 20q13.12 ADA1 Adenosine deaminase family 1302 1986-01-01 2021-04-13 100 ENSG00000196839 OTTHUMG00000033081 uc002xmj.4 X02994 NM_000022 "CCDS82618|CCDS13335" P00813 "6198240|6090454" MGI:87916 RGD:2031 "ADAbase: Mutation registry for Adenosine Deaminase Deficiency|http://structure.bmc.lu.se/idbase/ADAbase/|LRG_16|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_16.xml" 608958 117771 objectId:1230 3.5.4.4 HGNC:186 "ENST00000372874.9|NM_000022.4" HGNC:186 +HGNC:1839 ADA2 adenosine deaminase 2 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 ADGF "IDGFL|CECR1" cat eye syndrome chromosome region, candidate 1 Adenosine deaminase family 1302 1999-12-09 2017-02-16 2017-02-16 2021-05-26 51816 ENSG00000093072 OTTHUMG00000030726 uc062bga.1 AF190746 NM_001282225 "CCDS13742|CCDS13743|CCDS74809|CCDS63395" Q9NZK5 "10756095|27663683" LRG_1217|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1217.xml 607575 396032 HGNC:1839 "ENST00000399837.8|NM_001282225.2" HGNC:1839 +HGNC:30713 ADAD1 adenosine deaminase domain containing 1 protein-coding gene gene with protein product Approved 4q27 04q27 Tenr adenosine deaminase domain containing 1 (testis-specific) Adenosine deaminases acting on RNA 1303 2007-05-31 2015-11-09 2015-11-09 132612 ENSG00000164113 OTTHUMG00000150128 uc003ieo.4 AK057303 NM_139243 "CCDS34058|CCDS54800|CCDS54801" Q96M93 "7543294|9541871" MGI:103258 RGD:1359309 614130 HGNC:30713 "ENST00000296513.7|NM_139243.4" +HGNC:44550 ADAD1P1 adenosine deaminase domain containing 1 pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 adenosine deaminase domain containing 1 (testis-specific) pseudogene 1 2012-11-15 2015-11-24 2015-11-24 100422386 NG_025689 PGOHUM00000237999 HGNC:44550 +HGNC:44552 ADAD1P2 adenosine deaminase domain containing 1 pseudogene 2 pseudogene pseudogene Approved 18q21.1 18q21.1 adenosine deaminase domain containing 1 (testis-specific) pseudogene 2 2012-11-15 2015-11-24 2015-11-24 100422407 ENSG00000267511 OTTHUMG00000179830 NG_026329 PGOHUM00000235056 HGNC:44552 +HGNC:30714 ADAD2 adenosine deaminase domain containing 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "TENRL|FLJ00337" Adenosine deaminases acting on RNA 1303 2007-05-31 2014-11-19 161931 ENSG00000140955 OTTHUMG00000137637 uc002fhr.3 AF447586 NM_139174 "CCDS45536|CCDS10944" Q8NCV1 MGI:1923023 RGD:1586236 619532 HGNC:30714 "ENST00000315906.10|NM_001145400.2" +HGNC:31853 ADAL adenosine deaminase like protein-coding gene gene with protein product Approved 15q15.3 15q15.3 Adenosine deaminase family 1302 2005-11-15 2016-06-24 2016-10-18 161823 ENSG00000168803 OTTHUMG00000176646 uc059iit.1 NM_001324366 "CCDS81868|CCDS32214|CCDS53936" Q6DHV7 "16245011|23645737" MGI:1923144 RGD:1359517 619346 HGNC:31853 "ENST00000562188.7|NM_001324366.2" +HGNC:187 ADAM1A ADAM metallopeptidase domain 1A (pseudogene) pseudogene pseudogene Approved 12q24.12-q24.13 12q24.12-q24.13 "FTNAP|PH-30a|Ftna|ADAM1P" fertilin alpha ADAM1 "a disintegrin and metalloproteinase domain 1 (fertilin alpha) pseudogene|ADAM metallopeptidase domain 1, pseudogene|ADAM metallopeptidase domain 1A, pseudogene" ADAM metallopeptidase domain containing 47 1998-12-01 2012-08-22 2014-11-28 2018-02-13 8759 ENSG00000229186 OTTHUMG00000154247 Y09232 NG_001216 9032439 MGI:2429504 RGD:621467 M12.P03 HGNC:187 +HGNC:44366 ADAM1B ADAM metallopeptidase domain 1B (pseudogene) pseudogene pseudogene Approved 12q24.13 12q24.13 ADAM metallopeptidase domain 1B, pseudogene ADAM metallopeptidase domain containing 47 2012-08-22 2014-11-28 2014-11-28 100420505 ENSG00000226469 OTTHUMG00000154246 NG_024129 MGI:2429506 PGOHUM00000291806 HGNC:44366 +HGNC:198 ADAM2 ADAM metallopeptidase domain 2 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 "PH-30b|PH30|CT15" cancer/testis antigen 15 FTNB fertilin beta ADAM metallopeptidase domain containing 47 1996-10-26 2008-07-31 2020-09-17 2515 ENSG00000104755 OTTHUMG00000164041 uc003xnj.5 U52370 NM_001464 "CCDS64882|CCDS34884|CCDS64883" Q99965 "8702389|9070941" MGI:1340894 RGD:69299 601533 M12.950 objectId:1651 HGNC:198 "ENST00000265708.9|NM_001464.5" +HGNC:209 ADAM3A ADAM metallopeptidase domain 3A (pseudogene) pseudogene pseudogene Approved 8p11.22 08p11.22 "ADAM3|tMDCI" CYRN1 "cyritestin 1|a disintegrin and metalloproteinase domain 3a (cyritestin 1)|ADAM metallopeptidase domain 3A, pseudogene|ADAM metallopeptidase domain 3A" ADAM metallopeptidase domain containing 47 1997-04-10 2012-06-11 2014-11-19 1587 ENSG00000197475 OTTHUMG00000154991 X89657 NR_001569 "9502432|11439107" MGI:102518 RGD:621469 M12.P02 HGNC:209 +HGNC:210 ADAM3B ADAM metallopeptidase domain 3B (pseudogene) pseudogene pseudogene Approved 16q12.1 16q12.1 cyritestin 2 CYRN2 "a disintegrin and metalloproteinase domain 3b (cyritestin 2)|ADAM metallopeptidase domain 3B (non-functional)" ADAM metallopeptidase domain containing 47 1997-04-10 2012-06-11 2014-11-19 1596 ENSG00000260089 OTTHUMG00000173492 Y10615 NG_001526 "9284909|9502432|11439107" PGOHUM00000250658 M12.975 HGNC:210 +HGNC:212 ADAM5 ADAM metallopeptidase domain 5 (pseudogene) pseudogene pseudogene Approved 8p11.22 08p11.22 tMDCII ADAM5P "a disintegrin and metalloproteinase domain 5|ADAM metallopeptidase domain 5, pseudogene" ADAM metallopeptidase domain containing 47 2007-05-04 2012-08-22 2014-11-28 2016-10-05 255926 ENSG00000196115 OTTHUMG00000154982 BC047448 NR_001448 Q6NVV9 "8786143|10417343" MGI:104730 RGD:621471 PGOHUM00000250025 HGNC:212 +HGNC:213 ADAM6 ADAM metallopeptidase domain 6 (pseudogene) pseudogene pseudogene Approved 14q32.33 14q32.33 tMDCIV C14orf96 "chromosome 14 open reading frame 96|a disintegrin and metalloproteinase domain 6|ADAM metallopeptidase domain 6|ADAM metallopeptidase domain 6, pseudogene" ADAM metallopeptidase domain containing 47 1998-12-01 2014-11-28 2015-01-29 8755 ENSG00000271968 OTTHUMG00000152319 AI024595 NR_002224 MGI:2676316 RGD:621472 PGOHUM00000292470 HGNC:213 +HGNC:214 ADAM7 ADAM metallopeptidase domain 7 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "GP-83|EAPI" a disintegrin and metalloproteinase domain 7 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2020-09-17 8756 ENSG00000069206 OTTHUMG00000097859 uc003xeb.4 AF090327 NM_003817 CCDS6045 Q9H2U9 "15883027|19855936" MGI:107247 RGD:62032 607310 M12.956 objectId:1655 HGNC:214 "ENST00000175238.10|NM_003817.4" +HGNC:56152 ADAM7-AS1 ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p21.2 08p21.2 Antisense RNAs 1987 2022-01-12 2022-01-12 101929294 ENSG00000253535 NR_125808 +HGNC:56153 ADAM7-AS2 ADAM7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 8p21.2 08p21.2 Antisense RNAs 1987 2022-01-12 2022-01-12 101929315 ENSG00000253643 NR_125809 +HGNC:215 ADAM8 ADAM metallopeptidase domain 8 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "CD156|MS2|CD156A" a disintegrin and metalloproteinase domain 8 "ADAM metallopeptidase domain containing|CD molecules" "47|471" 1996-11-13 2005-08-18 2020-09-17 101 ENSG00000151651 OTTHUMG00000019309 uc021qbe.2 D26579 NM_001109 "CCDS58102|CCDS58103|CCDS31319" P78325 9126482 MGI:107825 RGD:1566394 602267 M12.208 objectId:1656 CD156A HGNC:215 "ENST00000445355.8|NM_001109.5" +HGNC:216 ADAM9 ADAM metallopeptidase domain 9 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 "MDC9|KIAA0021|MCMP|Mltng" meltrin gamma CORD9 "a disintegrin and metalloproteinase domain 9 (meltrin gamma)|cone rod dystrophy 9" ADAM metallopeptidase domain containing 47 1998-12-01 2010-06-24 2021-05-26 8754 ENSG00000168615 OTTHUMG00000159783 uc003xmr.4 U41766 NM_003816 CCDS6112 Q13443 "8647900|11581183|19409519" MGI:105376 RGD:621473 602713 201516 M12.209 objectId:1657 HGNC:216 "ENST00000487273.7|NM_003816.3" HGNC:216 +HGNC:188 ADAM10 ADAM metallopeptidase domain 10 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "kuz|MADM|HsT18717|CD156C" a disintegrin and metalloproteinase domain 10 "ADAM metallopeptidase domain containing|CD molecules" "47|471" 1997-03-21 2005-08-18 2021-05-26 102 ENSG00000137845 OTTHUMG00000132633 uc002afd.3 AF009615 NM_001110 CCDS10167 O14672 "9344679|9441766" MGI:109548 RGD:2032 602192 358659 M12.210 objectId:1658 CD156c HGNC:188 "ENST00000260408.8|NM_001110.4" HGNC:188 +HGNC:189 ADAM11 ADAM metallopeptidase domain 11 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 metalloproteinase-like, disintegrin-like, cysteine-rich protein MDC a disintegrin and metalloproteinase domain 11 ADAM metallopeptidase domain containing 47 1993-11-01 2005-08-18 2020-09-17 4185 ENSG00000073670 OTTHUMG00000179038 uc002ihh.4 D17390 NM_002390 "CCDS82139|CCDS11486" O75078 8252040 MGI:1098667 RGD:1307515 155120 M12.976 objectId:1659 HGNC:189 "ENST00000200557.11|NM_002390.6" +HGNC:190 ADAM12 ADAM metallopeptidase domain 12 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "MCMPMltna|MLTN" meltrin alpha a disintegrin and metalloproteinase domain 12 (meltrin alpha) ADAM metallopeptidase domain containing 47 1998-12-01 2008-07-29 2020-09-17 8038 ENSG00000148848 OTTHUMG00000019243 uc001ljk.4 AF023476 NM_001288973 "CCDS7654|CCDS7653" O43184 "9417060|18342566" MGI:105378 RGD:1583652 602714 M12.212 objectId:1660 HGNC:190 "ENST00000448723.2|NM_001288973.2" +HGNC:193 ADAM15 ADAM metallopeptidase domain 15 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MDC15 metargidin a disintegrin and metalloproteinase domain 15 (metargidin) ADAM metallopeptidase domain containing 47 1998-12-01 2007-06-04 2020-09-17 8751 ENSG00000143537 OTTHUMG00000013898 uc001fgr.3 U46005 NM_003815 "CCDS58032|CCDS58031|CCDS1088|CCDS1087|CCDS1086|CCDS44236|CCDS1085|CCDS60282|CCDS1084" Q13444 9516430 MGI:1333882 RGD:620402 605548 M12.215 objectId:1661 HGNC:193 "ENST00000356955.7|NM_207197.3" +HGNC:195 ADAM17 ADAM metallopeptidase domain 17 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "cSVP|CD156B" "cartilage snake venom-like protease|TNF-alpha convertase enzyme|a disintegrin and metalloproteinase 17" TACE tumor necrosis factor, alpha, converting enzyme "ADAM metallopeptidase domain containing|CD molecules" "47|471" 1997-04-10 2008-07-31 2021-05-26 6868 ENSG00000151694 OTTHUMG00000090425 uc002qzu.5 U69611 NM_001382777 CCDS1665 P78536 "9034190|9574564" MGI:1096335 RGD:620404 LRG_1203|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1203.xml 603639 299456 M12.217 objectId:1662 CD156B HGNC:195 "ENST00000310823.8|NM_003183.6" HGNC:195 +HGNC:196 ADAM18 ADAM metallopeptidase domain 18 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 "tMDCIII|ADAM27" a disintegrin and metalloproteinase domain 18 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2020-09-17 8749 ENSG00000168619 OTTHUMG00000164040 uc003xni.4 AJ133004 NM_014237 "CCDS83287|CCDS6113|CCDS55225" Q9Y3Q7 12200459 MGI:105986 RGD:620405 619495 M12.957 objectId:1663 HGNC:196 "ENST00000265707.10|NM_014237.3" +HGNC:197 ADAM19 ADAM metallopeptidase domain 19 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 MLTNB meltrin beta a disintegrin and metalloproteinase domain 19 (meltrin beta) ADAM metallopeptidase domain containing 47 1998-12-01 2010-06-24 2020-09-17 8728 ENSG00000135074 OTTHUMG00000130242 uc003lwz.5 AF311317 NM_033274 CCDS4338 Q9H013 9806848 MGI:105377 RGD:1585017 603640 M12.214 objectId:1664 HGNC:197 "ENST00000257527.9|NM_033274.5" +HGNC:199 ADAM20 ADAM metallopeptidase domain 20 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 a disintegrin and metalloproteinase domain 20 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2015-09-10 8748 ENSG00000134007 OTTHUMG00000167548 uc001xme.4 AF029899 NM_003814 CCDS32111 O43506 9469942 "MGI:1345157|MGI:2152342|MGI:3045694" RGD:1562912 603712 M12.218 objectId:1665 HGNC:199 "ENST00000256389.5|NM_003814.5" HGNC:199 +HGNC:20102 ADAM20P1 ADAM metallopeptidase domain 20 pseudogene 1 pseudogene pseudogene Approved 14q24.2 14q24.2 C14orf55 chromosome 14 open reading frame 55 2003-01-13 2012-04-30 2012-04-30 2012-04-30 317760 ENSG00000259158 OTTHUMG00000171329 uc059cwv.1 BC047939 NR_037933 PGOHUM00000247846 HGNC:20102 +HGNC:43901 ADAM20P2 ADAM metallopeptidase domain 20 pseudogene 2 pseudogene pseudogene Approved 4q34.2 04q34.2 2012-04-30 2014-11-19 100533671 ENSG00000248574 OTTHUMG00000160759 NG_028850 PGOHUM00000246145 HGNC:43901 +HGNC:43902 ADAM20P3 ADAM metallopeptidase domain 20 pseudogene 3 pseudogene pseudogene Approved 4q35.2 04q35.2 2012-04-30 2014-11-19 644325 ENSG00000249162 OTTHUMG00000160214 NG_023541 PGOHUM00000258178 HGNC:43902 +HGNC:200 ADAM21 ADAM metallopeptidase domain 21 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 ADAM31 a disintegrin and metalloproteinase domain 21 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2020-09-17 8747 ENSG00000139985 OTTHUMG00000171328 uc001xmd.4 AF029900 NM_003813 CCDS9804 Q9UKJ8 9469942 MGI:1861229 RGD:6499950 603713 M12.234 objectId:1666 HGNC:200 "ENST00000603540.2|NM_003813.4" +HGNC:19822 ADAM21P1 ADAM metallopeptidase domain 21 pseudogene 1 pseudogene pseudogene Approved 14q24.2 14q24.2 ADAM21P "a disintegrin and metalloproteinase domain 21 pseudogene|ADAM metallopeptidase domain 21 pseudogene" 2003-01-13 2010-01-12 2010-01-12 2014-11-19 145241 ENSG00000235812 OTTHUMG00000166565 NG_002467 PGOHUM00000257964 HGNC:19822 +HGNC:201 ADAM22 ADAM metallopeptidase domain 22 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 MDC2 metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2 a disintegrin and metalloproteinase domain 22 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2021-05-26 53616 ENSG00000008277 OTTHUMG00000137417 uc003ujn.4 AB009671 NM_021723 "CCDS43610|CCDS43608|CCDS47637|CCDS43609" Q9P0K1 "9693107|10524237" MGI:1340046 RGD:1585016 603709 M12.978 objectId:1667 HGNC:201 "ENST00000413139.2|NM_001324418.2" HGNC:201 +HGNC:202 ADAM23 ADAM metallopeptidase domain 23 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 MDC3 a disintegrin and metalloproteinase domain 23 ADAM metallopeptidase domain containing 47 1998-12-01 2005-08-18 2020-09-17 8745 ENSG00000114948 OTTHUMG00000132919 uc002vbq.6 AB009672 NM_003812 CCDS2369 O75077 9693107 MGI:1345162 RGD:1305739 603710 M12.979 objectId:1668 HGNC:202 "ENST00000264377.8|NM_003812.4" +HGNC:203 ADAM24P ADAM metallopeptidase domain 24, pseudogene pseudogene pseudogene Approved 8p22 08p22 a disintegrin and metalloproteinase domain 24 ADAM metallopeptidase domain containing 47 2010-08-18 2005-08-18 2014-11-18 646479 ENSG00000214607 OTTHUMG00000154893 NG_022410 MGI:105984 PGOHUM00000249583 HGNC:203 +HGNC:206 ADAM28 ADAM metallopeptidase domain 28 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "eMDCII|MDC-Lm|MDC-Ls|ADAM23" a disintegrin and metalloproteinase domain 28 ADAM metallopeptidase domain containing 47 1999-07-29 2005-08-18 2020-09-17 10863 ENSG00000042980 OTTHUMG00000163780 uc003xdy.4 AJ242015 NM_021778 "CCDS34865|CCDS47830" Q9UKQ2 "10794709|15013428" MGI:105988 RGD:727820 606188 M12.224 objectId:1669 HGNC:206 "ENST00000265769.9|NM_014265.6" +HGNC:207 ADAM29 ADAM metallopeptidase domain 29 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 "svph1|CT73" cancer/testis antigen 73 a disintegrin and metalloproteinase domain 29 ADAM metallopeptidase domain containing 47 1999-08-23 2005-08-18 2020-09-17 11086 ENSG00000168594 OTTHUMG00000160764 uc031shw.1 AF171929 NM_001130703 CCDS3823 Q9UKF5 10644455 MGI:2676326 604778 M12.981 objectId:1670 HGNC:207 "ENST00000359240.7|NM_014269.4" +HGNC:208 ADAM30 ADAM metallopeptidase domain 30 protein-coding gene gene with protein product Approved 1p12 01p12 svph4 a disintegrin and metalloproteinase domain 30 ADAM metallopeptidase domain containing 47 1999-08-23 2005-08-18 2020-09-17 11085 ENSG00000134249 OTTHUMG00000189303 uc001eij.4 AF171932 NM_021794 CCDS907 Q9UKF2 10512762 MGI:1918328 RGD:1594713 604779 M12.232 objectId:1671 HGNC:208 "ENST00000369400.2|NM_021794.4" +HGNC:15479 ADAM32 ADAM metallopeptidase domain 32 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 a disintegrin and metalloproteinase domain 32 ADAM metallopeptidase domain containing 47 2004-02-09 2005-08-18 2018-05-03 203102 ENSG00000197140 OTTHUMG00000164071 uc003xmt.5 BC026085 NM_145004 "CCDS83286|CCDS47846" Q8TC27 12568724 MGI:2653822 RGD:735114 618602 M12.953 objectId:1672 HGNC:15479 "ENST00000379907.9|NM_145004.7" +HGNC:15478 ADAM33 ADAM metallopeptidase domain 33 protein-coding gene gene with protein product Approved 20p13 20p13 "DKFZp434K0521|dJ964F7.1" C20orf153 "a disintegrin and metalloproteinase domain 33|chromosome 20 open reading frame 153" ADAM metallopeptidase domain containing 47 2001-04-10 2005-08-18 2015-08-26 80332 ENSG00000149451 OTTHUMG00000031758 uc002wit.5 "AL117415|AB055891" NM_025220 "CCDS13058|CCDS63219" Q9BZ11 11814695 MGI:1341813 RGD:1305278 607114 M12.244 objectId:1673 HGNC:15478 "ENST00000356518.7|NM_025220.5" +HGNC:16299 ADAMDEC1 ADAM like decysin 1 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 M12.219 2001-08-24 2016-05-04 2016-10-05 27299 ENSG00000134028 OTTHUMG00000097858 uc003xdz.2 Y13323 NM_014479 "CCDS6044|CCDS55212" O15204 "9271581|12037602" MGI:1917650 RGD:1309861 606393 M12.219 HGNC:16299 "ENST00000256412.8|NM_014479.3" +HGNC:217 ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "C3-C5|METH1|KIAA1346" metalloprotease and thrombospondin-1 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1 ADAM metallopeptidases with thrombospondin type 1 motif 50 1998-11-19 2015-11-09 2021-12-09 9510 ENSG00000154734 OTTHUMG00000078688 uc002ymf.4 AF060152 NM_006988 CCDS33524 Q9UHI8 10438512 MGI:109249 RGD:621241 605174 M12.222 objectId:1674 HGNC:217 "ENST00000284984.8|NM_006988.5" HGNC:217 +HGNC:218 ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "ADAMTS-3|hPCPNI|PCINP|ADAM-TS2|NPI" "procollagen I N-proteinase|procollagen N-endopeptidase" a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2 ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-04-15 2015-11-09 2021-05-26 9509 ENSG00000087116 OTTHUMG00000130915 uc003mjw.3 AJ003125 NM_014244 "CCDS34311|CCDS4444" O95450 "10094461|15373769" MGI:1347356 RGD:1565950 604539 117780 M12.301 objectId:1675 HGNC:218 "ENST00000251582.12|NM_014244.5" HGNC:218 +HGNC:219 ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "KIAA0366|ADAMTS-4" a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3 ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-04-15 2015-11-09 2021-05-26 9508 ENSG00000156140 OTTHUMG00000129912 uc003hgk.2 AB002364 NM_014243 CCDS3553 O15072 10094461 MGI:3045353 RGD:1310750 605011 M12.220 objectId:1676 3.4.24.- HGNC:219 "ENST00000286657.10|NM_014243.3" HGNC:219 +HGNC:220 ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "KIAA0688|ADAMTS-2|ADMP-1" a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4 ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-04-15 2015-11-09 2020-09-17 9507 ENSG00000158859 OTTHUMG00000034349 uc001fyt.5 AB014588 NM_005099 CCDS1223 O75173 10094461 MGI:1339949 RGD:621242 603876 M12.221 objectId:1677 HGNC:220 "ENST00000367996.6|NM_005099.6" +HGNC:221 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "ADMP-2|ADAMTS11" aggrecanase-2 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2) ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-08-23 2015-11-09 2020-09-17 11096 ENSG00000154736 OTTHUMG00000078686 uc002ymg.4 AF142099 NM_007038 CCDS13579 Q9UNA0 10438522 MGI:1346321 RGD:735196 605007 M12.225 objectId:1678 HGNC:221 "ENST00000284987.6|NM_007038.5" +HGNC:222 ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif 6 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 ADAM-TS6 a disintegrin and metalloproteinase with thrombospondin motifs 6 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6 ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-09-06 2015-11-09 2021-11-08 11174 ENSG00000049192 OTTHUMG00000074079 uc003jtp.4 AF140674 NM_197941 CCDS3983 Q9UKP5 10464288 MGI:1347348 RGD:1307678 605008 M12.230 objectId:1679 HGNC:222 "ENST00000381055.8|NM_197941.4" HGNC:222 +HGNC:223 ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "ADAM-TS7|DKFZp434H204" "COMPase|a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein" a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7 ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-09-06 2015-11-09 2020-09-17 11173 ENSG00000136378 OTTHUMG00000172907 uc002bej.4 AF140675 NM_014272 CCDS32303 Q9UKP4 10464288 MGI:1347346 RGD:1306713 605009 M12.231 objectId:1680 HGNC:223 "ENST00000388820.5|NM_014272.5" +HGNC:49407 ADAMTS7P1 ADAMTS7 pseudogene 1 pseudogene pseudogene Approved 15q25.2 15q25.2 ADAMTS7P2 ADAMTS7 pseudogene 2 2013-11-05 2015-07-30 390660 ENSG00000274376 OTTHUMG00000172575 NR_045529 PGOHUM00000293315 HGNC:49407 +HGNC:49409 ADAMTS7P3 ADAMTS7 pseudogene 3 pseudogene pseudogene Approved 15q24.3 15q24.3 2013-11-05 2013-11-05 400406 ENSG00000261143 OTTHUMG00000172983 NG_028863 PGOHUM00000247191 HGNC:49409 +HGNC:49410 ADAMTS7P4 ADAMTS7 pseudogene 4 pseudogene pseudogene Approved 15q25.3 15q25.3 2013-11-05 2013-11-05 642935 ENSG00000218052 OTTHUMG00000172143 NG_022116 PGOHUM00000246914 HGNC:49410 +HGNC:224 ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "METH2|FLJ41712|ADAM-TS8" a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-08-23 2015-11-09 2020-09-17 11095 ENSG00000134917 OTTHUMG00000165656 uc001qgg.5 AF060153 NM_007037 CCDS41732 Q9UP79 10438512 MGI:1353468 RGD:1308511 605175 M12.226 objectId:1681 HGNC:224 "ENST00000257359.7|NM_007037.6" +HGNC:13202 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 KIAA1312 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9 ADAM metallopeptidases with thrombospondin type 1 motif 50 2000-11-27 2015-11-09 2021-05-26 56999 ENSG00000163638 OTTHUMG00000158722 uc003dmg.4 AF261918 NM_001318781 "CCDS2903|CCDS82801" Q9P2N4 10936055 MGI:1916320 RGD:1306889 605421 M12.021 objectId:1682 HGNC:13202 "ENST00000498707.5|NM_182920.2" HGNC:13202 +HGNC:40625 ADAMTS9-AS1 ADAMTS9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 ADAMTS9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2020-04-20 101929335 ENSG00000241158 OTTHUMG00000158723 uc021xaa.3 NR_110150 27941916 ADAMTS9-AS1 HGNC:40625 +HGNC:42435 ADAMTS9-AS2 ADAMTS9 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 ADAMTS9 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2018-06-15 100507098 ENSG00000241684 OTTHUMG00000158725 uc003dml.5 NR_038264 "24833086|29707897" adamts9-as2 ADAMTS9-AS2 HGNC:42435 +HGNC:13201 ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 ADAM-TS10 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10 ADAM metallopeptidases with thrombospondin type 1 motif 50 2001-04-05 2015-11-09 2021-05-26 81794 ENSG00000142303 OTTHUMG00000182216 uc002mkj.3 AF163762 NM_030957 "CCDS62529|CCDS12206" Q9H324 "15355968|15368195" MGI:2449112 RGD:1598320 608990 117773 M12.235 objectId:1683 HGNC:13201 "ENST00000597188.6|NM_030957.4" HGNC:13201 +HGNC:14605 ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 protein-coding gene gene with protein product Approved 5p13.3-p13.2 05p13.3-p13.2 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 ADAM metallopeptidases with thrombospondin type 1 motif 50 2001-04-05 2015-11-09 2018-02-13 81792 ENSG00000151388 OTTHUMG00000162088 uc003jia.3 AJ250725 NM_030955 "CCDS87293|CCDS87292|CCDS34140" P58397 11279086 MGI:2146046 RGD:1307323 606184 M12.237 objectId:1684 HGNC:14605 "ENST00000504830.6|NM_030955.4" +HGNC:1366 ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "VWFCP|TTP|vWF-CP|FLJ42993|MGC118899|MGC118900|DKFZp434C2322" C9orf8 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13 ADAM metallopeptidases with thrombospondin type 1 motif 50 1999-08-23 2001-09-21 2015-11-09 2021-05-26 11093 ENSG00000160323 OTTHUMG00000020876 uc004cdv.6 AJ011374 NM_139025 "CCDS6971|CCDS6972|CCDS6970" Q76LX8 "11557746|11535495" MGI:2685556 RGD:1311594 LRG_544|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_544.xml 604134 117776 M12.241 objectId:1685 HGNC:1366 "ENST00000355699.7|NM_139027.6" HGNC:1366 +HGNC:14899 ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14 ADAM metallopeptidases with thrombospondin type 1 motif 50 2002-01-09 2015-11-09 2016-10-05 140766 ENSG00000138316 OTTHUMG00000018414 uc001jrg.4 AF358666 NM_080722 "CCDS7306|CCDS7307" Q8WXS8 11779638 MGI:2179942 RGD:1308899 607506 M12.024 objectId:1686 HGNC:14899 "ENST00000373207.2|NM_080722.4" +HGNC:16305 ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15 ADAM metallopeptidases with thrombospondin type 1 motif 50 2002-02-13 2015-11-09 2016-10-05 170689 ENSG00000166106 OTTHUMG00000165657 uc010scd.3 AJ315733 NM_139055 CCDS8488 Q8TE58 11867212 MGI:2449569 RGD:1309770 607509 M12.025 objectId:1687 HGNC:16305 "ENST00000299164.4|NM_139055.4" +HGNC:17108 ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif 16 protein-coding gene gene with protein product Approved 5p15.32 05p15.32 ADAMTS16s a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16 ADAM metallopeptidases with thrombospondin type 1 motif 50 2002-02-13 2015-11-09 2016-10-05 170690 ENSG00000145536 OTTHUMG00000161663 uc003jdl.4 AJ315734 NM_139056 CCDS43299 Q8TE57 11867212 MGI:2429637 RGD:1310046 607510 M12.026 objectId:1688 HGNC:17108 "ENST00000274181.7|NM_139056.4" +HGNC:55548 ADAMTS16-DT ADAMTS16 divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.32 05p15.32 Divergent transcripts 1990 2021-03-25 2021-03-25 101929176 ENSG00000250579 NR_109915 +HGNC:17109 ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "FLJ32769|FLJ16363" a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17 ADAM metallopeptidases with thrombospondin type 1 motif 50 2002-02-13 2015-11-09 2021-05-26 170691 ENSG00000140470 OTTHUMG00000149867 uc002bvv.2 AJ315735 NM_139057 CCDS10383 Q8TE56 11867212 MGI:3588195 RGD:1308783 607511 304263 M12.027 objectId:1689 HGNC:17109 "ENST00000268070.9|NM_139057.4" HGNC:17109 +HGNC:17110 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 ADAMTS21 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18 ADAM metallopeptidases with thrombospondin type 1 motif 50 2002-02-13 2015-11-09 2021-05-26 170692 ENSG00000140873 OTTHUMG00000137619 uc002ffc.4 AJ311903 NM_001326358 CCDS10926 Q8TE60 "11867212|17546048" MGI:2442600 RGD:1560118 607512 376567 M12.028 objectId:1690 HGNC:17110 "ENST00000282849.10|NM_199355.4" HGNC:17110 +HGNC:17111 ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19 ADAM metallopeptidases with thrombospondin type 1 motif 50 2002-03-05 2015-11-09 2021-05-26 171019 ENSG00000145808 OTTHUMG00000128990 uc003kvb.2 AJ311904 NM_133638 CCDS4146 Q8TE59 11867212 MGI:2442875 RGD:1308359 607513 M12.029 objectId:1691 HGNC:17111 "ENST00000274487.9|NM_133638.6" +HGNC:40797 ADAMTS19-AS1 ADAMTS19 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q23.3 05q23.3 RP11-346A9.1 Antisense RNAs 1987 2013-06-19 2021-04-14 103689846 ENSG00000249421 OTTHUMG00000163040 DA728271 NR_125748 ADAMTS19-AS1 HGNC:40797 +HGNC:17178 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 protein-coding gene gene with protein product Approved 12q12 12q12 GON-1 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20 ADAM metallopeptidases with thrombospondin type 1 motif 50 2003-05-22 2015-11-09 2015-11-09 80070 ENSG00000173157 OTTHUMG00000169353 uc010skx.3 AF488804 NM_025003 CCDS31778 P59510 "12514189|12562771" MGI:2660628 RGD:1307725 611681 M12.246 objectId:1692 HGNC:17178 "ENST00000389420.8|NM_025003.5" +HGNC:14632 ADAMTSL1 ADAMTS like 1 protein-coding gene gene with protein product Approved 9p22.2-p22.1 09p22.2-p22.1 "ADAMTSR1|FLJ35283" "punctin|punctin-1" C9orf94 chromosome 9 open reading frame 94 "I-set domain containing|ADAMTS like|MicroRNA protein coding host genes" "593|947|1691" 2002-01-11 2015-11-09 2021-05-26 92949 ENSG00000178031 OTTHUMG00000019604 uc003zne.5 AF176313 NM_001040272 "CCDS47954|CCDS6485" Q8N6G6 "9628581|11805097" MGI:1924989 RGD:1306439 609198 HGNC:14632 "ENST00000380548.9|NM_001040272.6" +HGNC:14631 ADAMTSL2 ADAMTS like 2 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 KIAA0605 ADAMTS like 947 2005-01-12 2015-11-09 2021-05-26 9719 ENSG00000197859 OTTHUMG00000131706 uc011mdl.2 AB011177 NM_014694 CCDS6976 Q86TH1 "9628581|14667842" MGI:1925044 RGD:1305459 612277 183895 HGNC:14631 "ENST00000651351.2|NM_014694.4" HGNC:14631 +HGNC:14633 ADAMTSL3 ADAMTS like 3 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "KIAA1233|punctin-2" "I-set domain containing|Immunoglobulin like domain containing|ADAMTS like" "593|594|947" 2004-04-21 2015-11-09 2015-11-09 57188 ENSG00000156218 OTTHUMG00000147363 uc002bjz.5 AF237652 NM_207517 "CCDS10326|CCDS73773" P82987 "9628581|10574462" MGI:3028499 RGD:1305155 609199 HGNC:14633 "ENST00000286744.10|NM_207517.3" +HGNC:19706 ADAMTSL4 ADAMTS like 4 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 DKFZP434K1772 TSRC1 thrombospondin repeat containing 1 "ADAMTS like|MicroRNA protein coding host genes" "947|1691" 2003-06-02 2005-12-01 2015-11-09 2021-05-26 54507 ENSG00000143382 OTTHUMG00000034863 uc001eux.5 BC027478 NM_019032 "CCDS955|CCDS30852|CCDS72908" Q6UY14 12706885 MGI:2389008 RGD:1561012 610113 178791 HGNC:19706 "ENST00000271643.9|NM_019032.6" HGNC:19706 +HGNC:32041 ADAMTSL4-AS1 ADAMTSL4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 FLJ45786 C1orf138 chromosome 1 open reading frame 138 Antisense RNAs 1987 2005-07-08 2013-08-29 2013-08-29 2014-11-18 574406 ENSG00000203804 OTTHUMG00000034866 AK127688 NR_104133 Q5T5F5 ADAMTSL4-AS1 HGNC:32041 +HGNC:40895 ADAMTSL4-AS2 ADAMTSL4 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 Antisense RNAs 1987 2019-07-19 2019-07-19 100289061 ENSG00000237781 OTTHUMG00000034864 XR_001738227 HGNC:40895 +HGNC:27912 ADAMTSL5 ADAMTS like 5 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 THSD6 thrombospondin, type I, domain containing 6 ADAMTS like 947 2004-03-17 2006-02-07 2015-11-09 2019-03-22 339366 ENSG00000185761 OTTHUMG00000180093 uc002ltd.2 BC040620 NM_213604 CCDS12071 Q6ZMM2 23010571 MGI:1913798 RGD:1305607 HGNC:27912 "ENST00000330475.9|NM_213604.3" +HGNC:16486 ADAP1 ArfGAP with dual PH domains 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 GCS1L CENTA1 centaurin, alpha 1 "ArfGAPs|Pleckstrin homology domain containing" "395|682" 2001-10-03 2008-09-22 2008-09-22 2014-11-19 11033 ENSG00000105963 OTTHUMG00000023380 uc003sjo.6 AJ006422 NM_006869 "CCDS64577|CCDS75558|CCDS5318|CCDS64576" O75689 10333475 MGI:2442201 RGD:621418 608114 HGNC:16486 "ENST00000265846.10|NM_006869.4" +HGNC:16487 ADAP2 ArfGAP with dual PH domains 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 CENTA2 centaurin, alpha 2 "ArfGAPs|Pleckstrin homology domain containing" "395|682" 2001-09-04 2008-09-22 2008-09-22 2019-03-22 55803 ENSG00000184060 OTTHUMG00000132868 uc002hfx.4 AJ238994 NM_018404 "CCDS86588|CCDS11261" Q9NPF8 "12018390|27956705" MGI:2663075 RGD:708487 608635 469914 HGNC:16487 "ENST00000330889.8|NM_018404.3" +HGNC:225 ADAR adenosine deaminase RNA specific protein-coding gene gene with protein product Approved 1q21.3 01q21.3 ADAR1 "IFI4|G1P1" interferon-induced protein 4 Adenosine deaminases acting on RNA 1303 1995-12-12 2019-01-18 2021-04-13 103 ENSG00000160710 OTTHUMG00000037261 uc001ffh.4 BC038227 NM_001111 "CCDS1071|CCDS30879" P55265 7972084 MGI:1889575 RGD:71099 LRG_1212|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1212.xml 146920 119502 3.5.4.- HGNC:225 "ENST00000368474.9|NM_001111.5" HGNC:225 +HGNC:226 ADARB1 adenosine deaminase RNA specific B1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "ADAR2|DRADA2|ADAR2g|DRABA2|RED1|hRED1|ADAR2a-L1|ADAR2a-L2|ADAR2a-L3|ADAR2a|ADAR2b|ADAR2c|ADAR2d" RED1 homolog (rat) adenosine deaminase, RNA-specific, B1 (homolog of rat RED1) Adenosine deaminases acting on RNA 1303 1996-10-02 2019-01-18 2020-09-17 104 ENSG00000197381 OTTHUMG00000090295 uc002zgt.3 U76420 NM_015833 "CCDS33590|CCDS33589|CCDS42970" P78563 "9143496|14759252" MGI:891999 RGD:2033 601218 3.5.-.- HGNC:226 "ENST00000348831.9|NM_001112.4" HGNC:226 +HGNC:227 ADARB2 adenosine deaminase RNA specific B2 (inactive) protein-coding gene gene with protein product Approved 10p15.3 10p15.3 "RED2|hRED2|ADAR3" RED2 homolog (rat) "adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)|adenosine deaminase, RNA-specific, B2|adenosine deaminase, RNA-specific, B2 (non-functional)" Adenosine deaminases acting on RNA 1303 1996-10-02 2019-01-18 2020-09-17 105 ENSG00000185736 OTTHUMG00000017543 uc009xhq.4 AF034837 NM_018702 CCDS7058 Q9NS39 "9272162|10836796" MGI:2151118 RGD:621519 602065 3.5.-.- HGNC:227 "ENST00000381312.6|NM_018702.4" +HGNC:23299 ADARB2-AS1 ADARB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 bA466B20.1 "C10orf109|NCRNA00168" "chromosome 10 open reading frame 109|non-protein coding RNA 168|ADARB2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-08-11 2012-08-15 2017-09-08 642394 ENSG00000205696 OTTHUMG00000017542 uc057rfm.1 NR_033387 A8MUL3 28874676 ADARB2-AS1 HGNC:23299 +HGNC:228 ADAT1 adenosine deaminase tRNA specific 1 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 Adenosine deaminases acting on RNA 1303 1999-10-14 2019-01-18 2020-09-17 23536 ENSG00000065457 OTTHUMG00000137611 uc002feo.3 AF125188 NM_012091 CCDS10922 Q9BUB4 10430867 MGI:1353631 RGD:1591020 604230 HGNC:228 "ENST00000564657.2|NM_001324445.2" +HGNC:21172 ADAT2 adenosine deaminase tRNA specific 2 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "dJ20N2.1|TAD2" DEADC1 "deaminase domain containing 1|adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)" Adenosine deaminases acting on RNA 1303 2003-11-26 2007-08-16 2019-01-18 2019-01-18 134637 ENSG00000189007 OTTHUMG00000015725 uc003qjj.4 BC037955 NM_001286259 "CCDS69219|CCDS43511" Q7Z6V5 12457566 MGI:1914007 RGD:1309642 615388 HGNC:21172 "ENST00000237283.9|NM_182503.3" +HGNC:25151 ADAT3 adenosine deaminase tRNA specific 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 TAD3 tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae) adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae) Adenosine deaminases acting on RNA 1303 2007-08-16 2019-01-18 2019-01-18 113179 ENSG00000213638 OTTHUMG00000154591 uc002luh.5 BC011824 NM_138422 CCDS12076 Q96EY9 12457566 MGI:1924344 RGD:1642417 615302 365118 HGNC:25151 "ENST00000329478.4|NM_138422.4" HGNC:25151 +HGNC:19038 ADCK1 aarF domain containing kinase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ39600 2003-07-21 2015-10-15 57143 ENSG00000063761 OTTHUMG00000171520 uc001xui.3 AK096919 NM_020421 "CCDS45144|CCDS9869" Q86TW2 12471243 MGI:1919363 RGD:1308263 objectId:1925 HGNC:19038 "ENST00000238561.10|NM_020421.4" +HGNC:19039 ADCK2 aarF domain containing kinase 2 protein-coding gene gene with protein product Approved 7q34 07q34 MGC20727 2003-07-21 2018-05-03 90956 ENSG00000133597 OTTHUMG00000157409 uc003vvy.2 AF131745 NM_052853 CCDS5861 Q7Z695 MGI:1889336 RGD:1311058 objectId:1926 HGNC:19039 "ENST00000072869.9|NM_052853.4" +HGNC:21738 ADCK5 aarF domain containing kinase 5 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ35454 2003-07-21 2016-04-25 203054 ENSG00000173137 OTTHUMG00000165190 uc003zch.5 BC032402 NM_174922 CCDS34965 Q3MIX3 MGI:2679274 RGD:1305504 objectId:1929 HGNC:21738 "ENST00000308860.11|NM_174922.5" +HGNC:229 ADCP1 adenosine deaminase complexing protein 1 other unknown Approved 6 06 1986-01-01 2019-06-20 106 "279003|6933468|6974523" +HGNC:232 ADCY1 adenylate cyclase 1 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 AC1 adenylyl cyclase subtype 1 DFNB44 "adenylate cyclase 1 (brain)|deafness, autosomal recessive 44" Adenylate cyclases 53 1992-12-02 2016-06-24 2021-05-26 107 ENSG00000164742 OTTHUMG00000155420 uc003tne.5 L05500 NM_021116 "CCDS34631|CCDS75593" Q08828 "8314585|24482543" MGI:99677 RGD:1309318 LRG_1172|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1172.xml 103072 404762 objectId:1278 4.6.1.1 HGNC:232 "ENST00000297323.12|NM_021116.4" HGNC:232 +HGNC:233 ADCY2 adenylate cyclase 2 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 "HBAC2|KIAA1060|AC2" adenylate cyclase 2 (brain) Adenylate cyclases 53 1993-02-11 2016-06-24 2020-09-17 108 ENSG00000078295 OTTHUMG00000090476 uc003jdz.2 AB028983 NM_020546 CCDS3872 Q08462 1427768 MGI:99676 RGD:619965 103071 objectId:1279 4.6.1.1 HGNC:233 "ENST00000338316.9|NM_020546.3" +HGNC:234 ADCY3 adenylate cyclase 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 AC3 Adenylate cyclases 53 1994-07-22 2021-05-26 109 ENSG00000138031 OTTHUMG00000094765 uc002rfs.5 AF033861 NM_001320613 "CCDS1715|CCDS82424" O60266 9920776 MGI:99675 RGD:71009 600291 objectId:1280 4.6.1.1 HGNC:234 "ENST00000679454.1|NM_004036.5" HGNC:234 +HGNC:235 ADCY4 adenylate cyclase 4 protein-coding gene gene with protein product Approved 14q12 14q12 AC4 Adenylate cyclases 53 1994-07-22 2020-09-17 196883 ENSG00000129467 OTTHUMG00000029347 uc001wox.3 AF497516 NM_001198568 CCDS9627 Q8NFM4 7766992 MGI:99674 RGD:2034 600292 objectId:1281 4.6.1.1 HGNC:235 "ENST00000418030.7|NM_001198568.2" +HGNC:236 ADCY5 adenylate cyclase 5 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 AC5 Adenylate cyclases 53 1994-07-22 2021-05-26 111 ENSG00000173175 OTTHUMG00000159517 uc003egh.3 U65473 NM_183357 "CCDS56274|CCDS3022" O95622 10481931 MGI:99673 RGD:71014 600293 327400 objectId:1282 4.6.1.1 HGNC:236 "ENST00000462833.6|NM_183357.3" HGNC:236 +HGNC:237 ADCY6 adenylate cyclase 6 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 AC6 "Adenylate cyclases|MicroRNA protein coding host genes" "53|1691" 1994-07-22 2021-05-26 112 ENSG00000174233 OTTHUMG00000170396 uc001rsh.5 NM_020983 CCDS8767 O43306 24319099 MGI:87917 RGD:2035 600294 403669 objectId:1283 4.6.1.1 HGNC:237 "ENST00000357869.8|NM_015270.5" HGNC:237 +HGNC:53332 ADCY6-DT ADCY6 divergent transcript non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 Divergent transcripts 1990 2019-06-14 2019-06-14 100506125 ENSG00000257660 OTTHUMG00000170397 NR_110019 HGNC:53332 +HGNC:238 ADCY7 adenylate cyclase 7 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "KIAA0037|AC7" "Adenylate cyclases|MicroRNA protein coding host genes" "53|1691" 1994-07-22 2020-09-17 113 ENSG00000121281 OTTHUMG00000133172 uc002egd.3 D25538 NM_001114 "CCDS73882|CCDS10741" P51828 7860067 MGI:102891 RGD:619966 600385 objectId:1284 4.6.1.1 HGNC:238 "ENST00000673801.1|NM_001114.5" +HGNC:239 ADCY8 adenylate cyclase 8 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "HBAC1|AC8" ADCY3 adenylate cyclase 8 (brain) Adenylate cyclases 53 1993-02-11 2016-06-24 2020-09-17 114 ENSG00000155897 OTTHUMG00000164756 uc003ytd.5 Z35309 NM_001115 CCDS6363 P40145 8076676 MGI:1341110 RGD:2036 103070 objectId:1285 4.6.1.1 HGNC:239 "ENST00000286355.10|NM_001115.3" +HGNC:240 ADCY9 adenylate cyclase 9 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 AC9 Adenylate cyclases 53 1994-07-22 2020-09-17 115 ENSG00000162104 OTTHUMG00000177612 uc002cvx.4 AF036927 NM_001116 CCDS32382 O60503 9628827 MGI:108450 RGD:1304747 603302 objectId:1286 4.6.1.1 HGNC:240 "ENST00000294016.8|NM_001116.4" +HGNC:21285 ADCY10 adenylate cyclase 10 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "SAC|Sacy|SACI|HCA2|RP1-313L4.2" "soluble adenylyl cyclase|Hypercalciuria, absorptive, 2" adenylate cyclase 10, soluble Adenylate cyclases 53 2008-01-16 2017-09-25 2021-05-26 55811 ENSG00000143199 OTTHUMG00000034573 uc001ger.4 AF271058 NM_018417 "CCDS72977|CCDS1265|CCDS53426" Q96PN6 23255611 MGI:2660854 RGD:708450 605205 168172 objectId:3068 4.6.1.1 HGNC:21285 "ENST00000367851.9|NM_018417.6" HGNC:21285 +HGNC:44143 ADCY10P1 ADCY10 pseudogene 1 pseudogene pseudogene Approved 6p21.1 06p21.1 adenylate cyclase 10 (soluble) pseudogene 1 2012-06-30 2019-01-18 2019-01-18 221442 ENSG00000161912 OTTHUMG00000014668 NR_026938 PGOHUM00000243618 HGNC:44143 +HGNC:241 ADCYAP1 adenylate cyclase activating polypeptide 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 PACAP "prepro-PACAP|pituitary adenylate cyclase activating polypeptide" adenylate cyclase activating polypeptide 1 (pituitary) Neuropeptides 1902 1992-12-02 2016-04-06 2020-09-17 116 ENSG00000141433 OTTHUMG00000131479 uc010dkh.5 S83513 NM_001117 CCDS11825 P18509 1730060 MGI:105094 RGD:2037 102980 ligandId:2258 HGNC:241 "ENST00000450565.8|NM_001099733.2" +HGNC:242 ADCYAP1R1 ADCYAP receptor type I protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "PAC1|PACAPR|PAC1R" "PACAP receptor 1|pituitary adenylate cyclase-activating polypeptide type 1 receptor" adenylate cyclase activating polypeptide 1 (pituitary) receptor type I Vasoactive intestinal peptide family receptors 264 1994-05-18 2016-03-14 2020-09-17 117 ENSG00000078549 OTTHUMG00000023884 uc003tca.3 NM_001118 "CCDS56480|CCDS56481|CCDS5433" P41586 7902709 MGI:108449 RGD:2038 102981 objectId:370 HGNC:242 "ENST00000304166.9|NM_001118.5" +HGNC:243 ADD1 adducin 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 alpha-adducin adducin 1 (alpha) Adducin family 2050 1992-10-19 2015-11-23 2020-09-17 118 ENSG00000087274 OTTHUMG00000122080 uc003gfq.4 L07261 NM_014189 "CCDS43205|CCDS3363|CCDS3364|CCDS75094" P35611 1840603 MGI:87918 RGD:2041 102680 469916 HGNC:243 "ENST00000683351.1|NM_001354761.2" +HGNC:244 ADD2 adducin 2 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 ADDB beta-adducin adducin 2 (beta) Adducin family 2050 1992-10-19 2015-11-23 2020-09-17 119 ENSG00000075340 OTTHUMG00000129710 uc061kjo.1 X58199 NM_001617 "CCDS54365|CCDS46318|CCDS1909|CCDS1906" P35612 1840603 MGI:87919 RGD:2042 102681 469918 HGNC:244 "ENST00000264436.9|NM_001617.4" +HGNC:245 ADD3 adducin 3 protein-coding gene gene with protein product Approved 10q25.1-q25.2 10q25.1-q25.2 gamma-adducin ADDL adducin 3 (gamma) Adducin family 2050 1997-04-10 2015-11-23 2021-05-26 120 ENSG00000148700 OTTHUMG00000019032 uc001kyv.4 U37122 NM_019903 "CCDS7561|CCDS7562" Q9UEY8 8893809 MGI:1351615 RGD:2043 601568 394916 HGNC:245 "ENST00000356080.9|NM_016824.5" HGNC:245 +HGNC:48682 ADD3-AS1 ADD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 Antisense RNAs 1987 2013-06-06 2016-11-24 100505933 ENSG00000203876 OTTHUMG00000019028 NR_038943 HGNC:48682 +HGNC:21212 ADGB androglobin protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "FLJ23121|dJ408K24.1|CAPN16" C6orf103 chromosome 6 open reading frame 103 Calpains 975 2003-11-25 2012-02-03 2012-02-03 2016-10-05 79747 ENSG00000118492 OTTHUMG00000015758 uc010khx.4 AK026774 NM_024694 Q8N7X0 22115833 MGI:3605549 RGD:1564259 614630 C02.972 HGNC:21212 "ENST00000397944.8|NM_024694.4" +HGNC:55654 ADGB-DT ADGB divergent transcript non-coding RNA RNA, long non-coding Approved 6q24.3 06q24.3 Divergent transcripts 1990 2021-06-28 2021-06-28 101928661 ENSG00000237468 NR_125860 +HGNC:13838 ADGRA1 adhesion G protein-coupled receptor A1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 KIAA1828 GPR123 G protein-coupled receptor 123 Adhesion G protein-coupled receptors, subfamily A 911 2003-02-25 2015-03-03 2015-03-03 2016-10-05 84435 ENSG00000197177 OTTHUMG00000019304 AB058731 NM_001083909 "CCDS41580|CCDS76362" Q86SQ6 "12565841|25713288" MGI:1277167 RGD:1308241 612302 objectId:197 HGNC:13838 "ENST00000392607.8|NM_001083909.3" +HGNC:49543 ADGRA1-AS1 ADGRA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 GPR123-AS1 "GPR123 antisense RNA 1|adhesion G protein-coupled receptor A1 antisense RNA 1" Antisense RNAs 1987 2014-01-10 2015-03-03 2019-12-13 2019-12-13 100128127 ENSG00000256925 OTTHUMG00000019301 NR_111905 ADGRA1-AS1 HGNC:49543 +HGNC:17849 ADGRA2 adhesion G protein-coupled receptor A2 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "TEM5|DKFZp434C211|DKFZp434J0911|KIAA1531|FLJ14390" tumor endothelial marker 5 GPR124 G protein-coupled receptor 124 "Immunoglobulin like domain containing|Adhesion G protein-coupled receptors, subfamily A" "594|911" 2003-02-25 2015-03-03 2015-03-03 2016-10-05 25960 ENSG00000020181 OTTHUMG00000156182 AB040964 NM_032777 CCDS6097 Q96PE1 "11559528|12565841|25713288" MGI:1925810 RGD:2323365 606823 objectId:198 HGNC:17849 "ENST00000412232.3|NM_032777.10" +HGNC:13839 ADGRA3 adhesion G protein-coupled receptor A3 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "FLJ38547|PGR21" GPR125 G protein-coupled receptor 125 "I-set domain containing|Adhesion G protein-coupled receptors, subfamily A" "593|911" 2003-02-25 2015-03-03 2015-03-03 2021-05-26 166647 ENSG00000152990 OTTHUMG00000160926 AK095866 NM_145290 CCDS33964 Q8IWK6 "12565841|25713288" MGI:1917943 RGD:1304914 612303 470398 objectId:199 HGNC:13839 "ENST00000334304.10|NM_145290.4" +HGNC:55918 ADGRA3P1 ADGRA3 pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 2021-10-13 2021-10-13 100996333 ENSG00000256616 NG_032961 PGOHUM00000294591 +HGNC:943 ADGRB1 adhesion G protein-coupled receptor B1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 BAI1 brain-specific angiogenesis inhibitor 1 Adhesion G protein-coupled receptors, subfamily B 912 1998-06-05 2015-03-03 2015-03-03 2020-09-17 575 ENSG00000181790 OTTHUMG00000164732 AB005297 NM_001702 CCDS64985 O14514 "9533023|25713288" MGI:1933736 RGD:1305608 602682 objectId:174 HGNC:943 "ENST00000517894.6|NM_001702.3" +HGNC:944 ADGRB2 adhesion G protein-coupled receptor B2 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 BAI2 brain-specific angiogenesis inhibitor 2 "Adhesion G protein-coupled receptors, subfamily B|MicroRNA protein coding host genes" "912|1691" 1998-06-05 2015-03-03 2015-03-03 2021-05-26 576 ENSG00000121753 OTTHUMG00000003885 AB005298 NM_001703 "CCDS72747|CCDS72746" O60241 "9533023|25713288" MGI:2451244 RGD:1309431 602683 objectId:175 HGNC:944 "ENST00000373658.8|NM_001364857.2" +HGNC:945 ADGRB3 adhesion G protein-coupled receptor B3 protein-coding gene gene with protein product Approved 6q12-q13 06q12-q13 KIAA0550 BAI3 brain-specific angiogenesis inhibitor 3 Adhesion G protein-coupled receptors, subfamily B 912 1998-06-05 2015-03-03 2015-03-03 2020-09-17 577 ENSG00000135298 OTTHUMG00000014982 AB005299 NM_001704 CCDS4968 O60242 "9533023|25713288" MGI:2441837 RGD:1309703 602684 P02.027 objectId:176 HGNC:945 "ENST00000370598.6|NM_001704.3" +HGNC:55774 ADGRB3-DT ADGRB3 divergent transcript non-coding RNA RNA, long non-coding Approved 6q12 06q12 Divergent transcripts 1990 2021-07-22 2021-07-22 101928307 ENSG00000230910 NR_125872 +HGNC:19893 ADGRD1 adhesion G protein-coupled receptor D1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "DKFZp434B1272|PGR25" GPR133 G protein-coupled receptor 133 Adhesion G protein-coupled receptors, subfamily D 914 2003-11-26 2015-03-03 2015-03-03 2015-03-03 283383 ENSG00000111452 OTTHUMG00000168339 AY278561 NM_198827 "CCDS81753|CCDS9272" Q6QNK2 25713288 MGI:3041203 RGD:1594795 613639 P02.021 objectId:202 HGNC:19893 "ENST00000261654.10|NM_198827.5" +HGNC:53314 ADGRD1-AS1 ADGRD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 LACAT8 lung adenocarcinoma-associated transcript 8 Antisense RNAs 1987 2017-03-22 2017-03-22 105755954 ENSG00000256151 OTTHUMG00000168346 NR_131950 25599403 HGNC:53314 +HGNC:18651 ADGRD2 adhesion G protein-coupled receptor D2 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 PGR24 GPR144 G protein-coupled receptor 144 Adhesion G protein-coupled receptors, subfamily D 914 2003-11-26 2015-03-03 2015-03-03 2016-10-05 347088 ENSG00000180264 OTTHUMG00000020652 AY278562 NM_182611 Q7Z7M1 25713288 P02.015 objectId:204 HGNC:18651 +HGNC:3336 ADGRE1 adhesion G protein-coupled receptor E1 protein-coding gene gene with protein product Approved 19p13.3-p13.2 19p13.3-p13.2 "TM7LN3|EMR1" "egf-like module containing, mucin-like, hormone receptor-like sequence 1|egf-like module containing, mucin-like, hormone receptor-like 1" Adhesion G protein-coupled receptors, subfamily E 915 1994-08-31 2015-03-03 2015-03-03 2018-02-13 2015 ENSG00000174837 OTTHUMG00000181966 X81479 NM_001256252 "CCDS58644|CCDS58643|CCDS58645|CCDS58646|CCDS12175" Q14246 "7601460|9500513|25713288" MGI:106912 RGD:1359214 600493 P02.004 objectId:182 HGNC:3336 "ENST00000312053.9|NM_001974.5" +HGNC:3337 ADGRE2 adhesion G protein-coupled receptor E2 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 CD312 EMR2 "egf-like module containing, mucin-like, hormone receptor-like sequence 2|egf-like module containing, mucin-like, hormone receptor-like 2" "CD molecules|Adhesion G protein-coupled receptors, subfamily E" "471|915" 2000-03-14 2015-03-03 2015-03-03 2021-05-26 30817 ENSG00000127507 OTTHUMG00000183408 AF114491 NM_001271052 "CCDS32935|CCDS59361" Q9UHX3 25713288 MGI:1347095 606100 P02.001 objectId:183 CD312 HGNC:3337 "ENST00000315576.8|NM_013447.4" HGNC:3337 +HGNC:23647 ADGRE3 adhesion G protein-coupled receptor E3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 EMR3 egf-like module containing, mucin-like, hormone receptor-like 3 Adhesion G protein-coupled receptors, subfamily E 915 2003-11-26 2015-03-03 2015-03-03 2015-08-28 84658 ENSG00000131355 OTTHUMG00000183406 AF239764 NM_032571 "CCDS74297|CCDS74296|CCDS12315" Q9BY15 "11279179|12975309|25713288" MGI:1196464 606101 P02.003 objectId:184 HGNC:23647 "ENST00000253673.6|NM_032571.5" +HGNC:19240 ADGRE4P adhesion G protein-coupled receptor E4, pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 PGR16 "GPR127|EMR4|EMR4P" "G protein-coupled receptor 127|egf-like module containing, mucin-like, hormone receptor-like 4|egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene" Adhesion G protein-coupled receptors, subfamily E 915 2003-02-25 2015-03-03 2015-03-03 2020-04-20 326342 ENSG00000268758 OTTHUMG00000177251 AY181245 NR_024075 Q86SQ3 "12565841|25713288" MGI:1196464 RGD:1359641 612305 PGOHUM00000259297 P02.005 HGNC:19240 +HGNC:1711 ADGRE5 adhesion G protein-coupled receptor E5 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 TM7LN1 "leukocyte antigen CD97|seven-span transmembrane protein|seven-transmembrane, heterodimeric receptor associated with inflammation|seven transmembrane helix receptor" CD97 "CD97 antigen|CD97 molecule" "CD molecules|Adhesion G protein-coupled receptors, subfamily E" "471|915" 1995-11-29 2015-03-03 2015-03-03 2015-03-03 976 ENSG00000123146 OTTHUMG00000182166 NM_078481 "CCDS32929|CCDS32931|CCDS32930" P48960 "7636245|8786105|25713288" MGI:1347095 RGD:1305595 601211 P02.002 objectId:177 CD97 HGNC:1711 "ENST00000242786.6|NM_078481.4" +HGNC:18990 ADGRF1 adhesion G protein-coupled receptor F1 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "hGPCR36|PGR19" GPR110 G protein-coupled receptor 110 Adhesion G protein-coupled receptors, subfamily F 916 2002-11-26 2015-03-03 2015-03-03 2016-10-05 266977 ENSG00000153292 OTTHUMG00000014795 AB083618 NM_153840 "CCDS34471|CCDS4920" Q5T601 "12435584|14623098|25713288" MGI:1924846 RGD:1310285 617430 P02.022 objectId:190 HGNC:18990 "ENST00000371253.7|NM_153840.4" +HGNC:18991 ADGRF2 adhesion G protein-coupled receptor F2 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "hGPCR35|PGR20" GPR111 G protein-coupled receptor 111 Adhesion G protein-coupled receptors, subfamily F 916 2002-11-26 2015-03-03 2015-03-03 2015-03-03 222611 ENSG00000164393 OTTHUMG00000046168 AB065684 NM_153839 Q8IZF7 "12435584|25713288" MGI:2182728 RGD:1306718 objectId:191 HGNC:18991 +HGNC:18989 ADGRF3 adhesion G protein-coupled receptor F3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "hGPCR37|PGR23" GPR113 G protein-coupled receptor 113 Adhesion G protein-coupled receptors, subfamily F 916 2002-11-26 2015-03-03 2015-03-03 2016-10-05 165082 ENSG00000173567 OTTHUMG00000150225 AB083619 NM_153835 "CCDS46239|CCDS46238|CCDS33159" Q8IZF5 "12435584|25713288" MGI:2685887 RGD:1305868 P02.028 objectId:193 HGNC:18989 "ENST00000651242.2|NM_001321971.2" +HGNC:19011 ADGRF4 adhesion G protein-coupled receptor F4 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "FLJ38076|PGR18" GPR115 G protein-coupled receptor 115 Adhesion G protein-coupled receptors, subfamily F 916 2002-11-26 2015-03-03 2015-03-03 2015-03-03 221393 ENSG00000153294 OTTHUMG00000014800 AK095395 NM_153838 CCDS4922 Q8IZF3 "12435584|25713288" MGI:1925499 RGD:1565216 614268 objectId:195 HGNC:19011 "ENST00000283303.3|NM_153838.5" +HGNC:19030 ADGRF5 adhesion G protein-coupled receptor F5 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "DKFZp564O1923|KIAA0758" GPR116 G protein-coupled receptor 116 "I-set domain containing|Immunoglobulin like domain containing|Adhesion G protein-coupled receptors, subfamily F" "593|594|916" 2002-11-26 2015-03-03 2015-03-03 2020-04-20 221395 ENSG00000069122 OTTHUMG00000014793 AB018301 NM_015234 CCDS4919 Q8IZF2 "12435584|25713288" MGI:2182928 RGD:621679 P02.019 objectId:196 HGNC:19030 "ENST00000283296.12|NM_001098518.2" +HGNC:40864 ADGRF5-AS1 ADGRF5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.3 06p12.3 Antisense RNAs 1987 2019-08-02 2019-08-02 101926962 ENSG00000225730 OTTHUMG00000014794 NR_110658 HGNC:40864 +HGNC:32922 ADGRF5P1 adhesion G protein-coupled receptor F5 pseudogene 1 pseudogene pseudogene Approved 9q13 09q13 GPR116P1 G protein-coupled receptor 116 pseudogene 1 2006-05-26 2015-03-03 2015-03-03 2020-04-20 389740 ENSG00000227582 OTTHUMG00000058166 NG_021620 PGOHUM00000303863 HGNC:32922 +HGNC:32921 ADGRF5P2 adhesion G protein-coupled receptor F5 pseudogene 2 pseudogene pseudogene Approved 9p11.1 09p11.1 GPR116P2 G protein-coupled receptor 116 pseudogene 2 2006-05-26 2015-03-03 2015-03-03 2020-04-20 441416 ENSG00000204818 OTTHUMG00000013558 NG_021616 PGOHUM00000304223 HGNC:32921 +HGNC:4512 ADGRG1 adhesion G protein-coupled receptor G1 protein-coding gene gene with protein product Approved 16q21 16q21 "TM7LN4|TM7XN1" GPR56 G protein-coupled receptor 56 Adhesion G protein-coupled receptors, subfamily G 917 1998-10-12 2015-03-03 2015-03-03 2021-05-26 9289 ENSG00000205336 OTTHUMG00000176742 AJ011001 NM_001145770 "CCDS32461|CCDS73893|CCDS32460" Q9Y653 "10049584|10100861|25713288" MGI:1340051 RGD:628617 604110 122266 objectId:186 HGNC:4512 "ENST00000562631.7|NM_201525.4" HGNC:4512 +HGNC:4516 ADGRG2 adhesion G protein-coupled receptor G2 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "HE6|TM7LN2|EDDM6" epididymal protein 6 GPR64 G protein-coupled receptor 64 Adhesion G protein-coupled receptors, subfamily G 917 1999-10-22 2015-03-03 2015-03-03 2021-05-26 10149 ENSG00000173698 OTTHUMG00000021223 X81892 NM_001079858 "CCDS55376|CCDS55379|CCDS43922|CCDS14191|CCDS55377|CCDS43923|CCDS55378|CCDS43921" Q8IZP9 "9739419|9150425|25713288" MGI:2446854 RGD:628618 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR64 300572 466348 objectId:187 HGNC:4516 "ENST00000379869.8|NM_001079858.3" HGNC:4516 +HGNC:13728 ADGRG3 adhesion G protein-coupled receptor G3 protein-coding gene gene with protein product Approved 16q21 16q21 "Pb99|PGR26" GPR97 G protein-coupled receptor 97 Adhesion G protein-coupled receptors, subfamily G 917 2000-10-20 2015-03-03 2015-03-03 2016-10-05 222487 ENSG00000182885 OTTHUMG00000133458 AY140959 NM_170776 "CCDS10786|CCDS76879" Q86Y34 "12435584|25713288" MGI:1859670 RGD:1305674 618441 P02.023 objectId:188 HGNC:13728 "ENST00000333493.9|NM_170776.5" +HGNC:18992 ADGRG4 adhesion G protein-coupled receptor G4 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "RP1-299I16|PGR17" GPR112 G protein-coupled receptor 112 Adhesion G protein-coupled receptors, subfamily G 917 2002-11-26 2015-03-03 2015-03-03 2020-04-02 139378 ENSG00000156920 OTTHUMG00000022508 AY140954 NM_153834 CCDS35409 Q8IZF6 "12435584|25713288" MGI:2685213 RGD:1564057 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR112 P02.014 objectId:192 HGNC:18992 "ENST00000394143.6|NM_153834.4" HGNC:18992 +HGNC:19010 ADGRG5 adhesion G protein-coupled receptor G5 protein-coding gene gene with protein product Approved 16q21 16q21 PGR27 GPR114 G protein-coupled receptor 114 Adhesion G protein-coupled receptors, subfamily G 917 2002-11-26 2015-03-03 2015-03-03 2016-10-05 221188 ENSG00000159618 OTTHUMG00000133461 AY140956 NM_153837 CCDS10785 Q8IZF4 "12435584|25713288" MGI:2685955 RGD:1305559 616965 P02.016 objectId:194 HGNC:19010 "ENST00000349457.8|NM_001304376.3" +HGNC:13841 ADGRG6 adhesion G protein-coupled receptor G6 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 FLJ14937 GPR126 G protein-coupled receptor 126 Adhesion G protein-coupled receptors, subfamily G 917 2003-02-25 2015-03-03 2015-03-03 2021-05-26 57211 ENSG00000112414 OTTHUMG00000015709 AK027843 NM_001032394 "CCDS47491|CCDS47489|CCDS55064|CCDS47490" Q86SQ4 "12565841|25118328|25713288" MGI:1916151 RGD:1308551 612243 469920 P02.017 objectId:200 HGNC:13841 "ENST00000367609.8|NM_198569.3" HGNC:13841 +HGNC:19241 ADGRG7 adhesion G protein-coupled receptor G7 protein-coding gene gene with protein product Approved 3q12.2 03q12.2 FLJ14454 GPR128 G protein-coupled receptor 128 Adhesion G protein-coupled receptors, subfamily G 917 2003-02-25 2015-03-03 2015-03-03 2016-10-05 84873 ENSG00000144820 OTTHUMG00000159083 AK027360 NM_001308362 "CCDS77778|CCDS2938" Q96K78 25713288 MGI:2441732 RGD:1307217 612307 objectId:201 HGNC:19241 "ENST00000273352.8|NM_032787.3" +HGNC:20973 ADGRL1 adhesion G protein-coupled receptor L1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "KIAA0821|CIRL1|LEC2" LPHN1 latrophilin 1 Adhesion G protein-coupled receptors, subfamily L 918 2003-04-25 2015-03-03 2015-03-03 2016-10-05 22859 ENSG00000072071 OTTHUMG00000182138 AB020628 NM_014921 "CCDS12307|CCDS32928" O94910 "10994649|25713288" MGI:1929461 RGD:620768 616416 P02.010 objectId:206 HGNC:20973 "ENST00000361434.8|NM_014921.5" +HGNC:55309 ADGRL1-AS1 ADGRL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 Antisense RNAs 1987 2020-10-19 2020-10-19 100507373 ENSG00000267169 NR_045214 +HGNC:18582 ADGRL2 adhesion G protein-coupled receptor L2 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KIAA0786|LEC1|CIRL2" calcium-independent alpha-latrotoxin receptor 2 "LPHH1|LPHN2" "latrophilin 1|latrophilin 2" Adhesion G protein-coupled receptors, subfamily L 918 2002-04-26 2015-03-03 2015-03-03 2021-05-26 23266 ENSG00000117114 OTTHUMG00000009844 AJ131581 NM_012302 "CCDS81345|CCDS76174|CCDS689|CCDS72811" O95490 "10760572|25713288" MGI:2139714 RGD:620835 607018 objectId:207 HGNC:18582 "ENST00000686636.1|NM_001366006.2" +HGNC:20974 ADGRL3 adhesion G protein-coupled receptor L3 protein-coding gene gene with protein product Approved 4q13.1 04q13.1 "KIAA0768|LEC3" LPHN3 latrophilin 3 Adhesion G protein-coupled receptors, subfamily L 918 2003-04-25 2015-03-03 2015-03-03 2015-03-03 23284 ENSG00000150471 OTTHUMG00000160690 AB018311 NM_001322246 "CCDS54768|CCDS82926" Q9HAR2 "10994649|25713288" MGI:2441950 RGD:620836 616417 P02.011 objectId:208 HGNC:20974 "ENST00000683033.1|NM_001387552.1" +HGNC:50604 ADGRL3-AS1 ADGRL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q13.1 04q13.1 LPHN3-AS1 "LPHN3 antisense RNA 1|adhesion G protein-coupled receptor L3 antisense RNA 1" Antisense RNAs 1987 2014-05-22 2015-03-03 2019-12-13 2019-12-13 101927186 ENSG00000248692 OTTHUMG00000160691 NR_110595 ADGRL3-AS1 HGNC:50604 +HGNC:20822 ADGRL4 adhesion G protein-coupled receptor L4 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 ETL ELTD1 EGF, latrophilin and seven transmembrane domain containing 1 Adhesion G protein-coupled receptors, subfamily L 918 2003-04-29 2015-03-03 2015-03-03 2016-10-05 64123 ENSG00000162618 OTTHUMG00000009738 AF192403 NM_022159 CCDS41352 Q9HBW9 "11050079|25713288" MGI:2655562 RGD:621136 616419 P02.013 objectId:181 HGNC:20822 "ENST00000370742.4|NM_022159.4" +HGNC:17416 ADGRV1 adhesion G protein-coupled receptor V1 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "DKFZp761P0710|KIAA0686|FEB4|VLGR1" "USH2C|MASS1|GPR98" "monogenic, audiogenic seizure susceptibility 1 homolog (mouse)|G protein-coupled receptor 98" "Adhesion G protein-coupled receptors, subfamily V|USH2 complex " "919|1244" 2002-09-17 2015-03-03 2015-03-03 2021-05-26 84059 ENSG00000164199 OTTHUMG00000162668 AB014586 NM_032119 CCDS47246 Q8WXG9 "10976914|14740321|25713288" MGI:1274784 RGD:1562101 LRG_1095|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1095.xml 602851 122270 objectId:189 HGNC:17416 "ENST00000405460.9|NM_032119.4" HGNC:17416 +HGNC:249 ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH1 Alcohol dehydrogenases 397 1986-01-01 2020-09-17 124 ENSG00000187758 OTTHUMG00000131026 uc003hur.3 M12963 NM_000667 CCDS3648 P07327 3006456 MGI:87921 103700 1.1.1.1 HGNC:249 "ENST00000209668.3|NM_000667.4" +HGNC:250 ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH2 Alcohol dehydrogenases 397 1986-01-01 2007-11-06 2020-09-17 125 ENSG00000196616 OTTHUMG00000161413 uc003hus.6 AF153821 NM_000668 "CCDS68761|CCDS34033" P00325 3006456 MGI:87921 103720 469922 1.1.1.1 HGNC:250 "ENST00000305046.13|NM_000668.6" +HGNC:251 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH3 Alcohol dehydrogenases 397 1986-01-01 2020-09-17 126 ENSG00000248144 OTTHUMG00000161422 uc032trd.2 M12272 NM_000669 CCDS54780 P00326 3006456 MGI:87921 RGD:2044 103730 469924 1.1.1.1 HGNC:251 "ENST00000515683.6|NM_000669.5" +HGNC:252 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH-2 Alcohol dehydrogenases 397 1989-05-19 2020-09-17 127 ENSG00000198099 OTTHUMG00000161227 uc003hun.4 M15943 NM_000670 "CCDS34032|CCDS77942" P08319 MGI:1349472 RGD:71028 103740 1.1.1.1 HGNC:252 "ENST00000265512.12|NM_000670.5" +HGNC:253 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 "ADH-3|ADHX|GSNOR" S-nitrosoglutathione reductase FDH formaldehyde dehydrogenase Alcohol dehydrogenases 397 1986-01-01 2003-06-19 2020-11-30 128 ENSG00000197894 OTTHUMG00000161230 uc003hui.5 M29872 NM_000671 CCDS47111 P11766 "1446828|6424546" MGI:87929 RGD:2292706 103710 "1.1.1.1|1.1.1.284" HGNC:253 "ENST00000296412.14|NM_000671.4" +HGNC:22976 ADH5P2 ADH5 pseudogene 2 pseudogene pseudogene Approved 1p31.1 01p31.1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2 2003-08-13 2019-01-18 2020-04-20 343296 ENSG00000232676 OTTHUMG00000009701 NG_008685 HGNC:22976 +HGNC:22991 ADH5P3 ADH5 pseudogene 3 pseudogene pseudogene Approved 1q43 01q43 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 2003-08-13 2019-01-18 2020-04-20 100131810 ENSG00000223694 OTTHUMG00000039885 NG_042054 HGNC:22991 +HGNC:21377 ADH5P4 ADH5 pseudogene 4 pseudogene pseudogene Approved 6q12 06q12 bA707M13.2 ADH5B "alcohol dehydrogenase 5B|alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4" 2003-11-26 2005-05-19 2019-01-18 2020-04-20 642443 ENSG00000233859 OTTHUMG00000014976 AL391500 XM_208352 HGNC:21377 +HGNC:54523 ADH5P5 ADH5 pseudogene 5 pseudogene pseudogene Approved 5p14.2 05p14.2 2019-09-26 2020-01-21 115945146 ENSG00000234865 NG_068489 +HGNC:255 ADH6 alcohol dehydrogenase 6 (class V) protein-coding gene gene with protein product Approved 4q23 04q23 ADH-5 Alcohol dehydrogenases 397 1992-04-07 2020-09-17 130 ENSG00000172955 OTTHUMG00000131024 uc003hup.5 AK092768 NM_000672 "CCDS43255|CCDS3647" P28332 1881901 MGI:2446626 RGD:1306313 103735 1.1.1.1 HGNC:255 "ENST00000394899.6|NM_001102470.2" +HGNC:256 ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide protein-coding gene gene with protein product Approved 4q23 04q23 ADH-4 Alcohol dehydrogenases 397 1995-03-23 2020-09-17 131 ENSG00000196344 OTTHUMG00000159318 uc062ylg.1 X76342 NM_000673 CCDS54781 P40394 8195208 MGI:87926 RGD:621638 600086 1.1.1.1 HGNC:256 "ENST00000437033.7|NM_000673.7" +HGNC:16354 ADHFE1 alcohol dehydrogenase iron containing 1 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 FLJ32430 hydroxyacid-oxoacid transhydrogenase Alcohol dehydrogenases 397 2003-10-09 2019-01-21 2020-04-30 137872 ENSG00000147576 OTTHUMG00000150215 uc003xwb.5 AK056992 NM_144650 CCDS6190 Q8IWW8 12592711 MGI:1923437 RGD:1308863 611083 1.1.99.24 HGNC:16354 "ENST00000396623.8|NM_144650.3" +HGNC:30576 ADI1 acireductone dioxygenase 1 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "SIPL|MTCBP-1|ARD|APL1|FLJ10913|HMFT1638|mtnD" membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1 2006-02-09 2016-10-05 55256 ENSG00000182551 OTTHUMG00000112441 uc002qxp.5 NM_018269 "CCDS1653|CCDS77380" Q9BV57 "14718544|15938715" MGI:2144929 RGD:727828 613400 1.13.11.54 HGNC:30576 "ENST00000327435.11|NM_018269.4" +HGNC:52339 ADI1P1 acireductone dioxygenase 1 pseudogene 1 pseudogene pseudogene Approved 20q12 20q12 2016-07-25 2016-07-25 100130936 ENSG00000235102 OTTHUMG00000032482 NG_007499 PGOHUM00000297120 HGNC:52339 +HGNC:52340 ADI1P2 acireductone dioxygenase 1 pseudogene 2 pseudogene pseudogene Approved 8q22.3 08q22.3 2016-07-25 2016-07-25 100288971 ENSG00000250684 OTTHUMG00000160496 NG_021206 PGOHUM00000306607 HGNC:52340 +HGNC:52341 ADI1P3 acireductone dioxygenase 1 pseudogene 3 pseudogene pseudogene Approved 12q13.11 12q13.11 2016-07-25 2016-07-25 100288129 ENSG00000258369 OTTHUMG00000169665 NG_021715 PGOHUM00000306528 HGNC:52341 +HGNC:28606 ADIG adipogenin protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "MGC39724|SMAF1|RP5-1100H13.2" small adipocyte factor 1 adipogenesis associated 2007-03-29 2007-03-29 2014-02-12 149685 ENSG00000182035 OTTHUMG00000032451 uc002xjb.1 BC029594 NM_001018082 CCDS54461 Q0VDE8 "15567149|16132694" MGI:2675492 RGD:2320953 611396 HGNC:28606 "ENST00000537425.3|NM_001393816.1" +HGNC:13633 ADIPOQ adiponectin, C1Q and collagen domain containing protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "ACRP30|apM1|GBP28|adiponectin" "adipose most abundant gene transcript 1|adiponectin precursor" ACDC adipocyte, C1Q and collagen domain containing C1q and TNF related 1372 2004-02-26 2005-01-27 2005-01-24 2020-04-30 9370 ENSG00000181092 OTTHUMG00000156521 uc003fra.4 D45371 NM_004797 CCDS3284 Q15848 "7592907|8631877" MGI:106675 RGD:628748 605441 469926 ligandId:3726 HGNC:13633 "ENST00000320741.7|NM_004797.4" +HGNC:40648 ADIPOQ-AS1 ADIPOQ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 ADIPOQ antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874095 ENSG00000226482 OTTHUMG00000156514 uc031sct.2 NR_046662 ADIPOQ-AS1 HGNC:40648 +HGNC:24040 ADIPOR1 adiponectin receptor 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "PAQR1|ACDCR1" "Adiponectin receptors|Progestin and adipoQ receptor family" "293|930" 2004-06-23 2021-05-26 51094 ENSG00000159346 OTTHUMG00000041391 uc001gyq.7 NM_015999 CCDS1430 Q96A54 12802337 MGI:1919924 RGD:1303151 607945 objectId:649 HGNC:24040 "ENST00000340990.10|NM_015999.6" HGNC:24040 +HGNC:44910 ADIPOR1P1 adiponectin receptor 1 pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p12.31 2012-12-18 2012-12-18 645220 ENSG00000232497 OTTHUMG00000017804 NG_022165 PGOHUM00000238696 HGNC:44910 +HGNC:44911 ADIPOR1P2 adiponectin receptor 1 pseudogene 2 pseudogene pseudogene Approved 14q32.13 14q32.13 2012-12-18 2012-12-18 390503 ENSG00000258805 OTTHUMG00000170861 NG_022863 PGOHUM00000248258 HGNC:44911 +HGNC:24041 ADIPOR2 adiponectin receptor 2 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "PAQR2|ACDCR2" "Adiponectin receptors|Progestin and adipoQ receptor family" "293|930" 2004-06-23 2018-05-03 79602 ENSG00000006831 OTTHUMG00000130139 uc001qjm.4 AY424280 NM_024551 CCDS8511 Q86V24 12802337 MGI:93830 RGD:1307891 607946 objectId:650 HGNC:24041 "ENST00000357103.5|NM_024551.3" +HGNC:24043 ADIRF adipogenesis regulatory factor protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "APM2|AFRO" "adipose specific 2|adipose most abundant gene transcript 2|adipogenesis factor rich in obesity" C10orf116 chromosome 10 open reading frame 116 2004-04-20 2013-02-20 2013-02-20 2016-10-05 10974 ENSG00000148671 OTTHUMG00000018668 uc001ked.3 BC004471 NM_006829 CCDS7381 Q15847 "8619847|23239344" HGNC:24043 "ENST00000372013.8|NM_006829.3" +HGNC:45127 ADIRF-AS1 ADIRF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.2 10q23.2 Antisense RNAs 1987 2013-02-20 2022-02-24 100133190 ENSG00000272734 OTTHUMG00000185998 uc057uqy.1 AK128041 NR_170177 35196590 ADIRF-AS1 +HGNC:257 ADK adenosine kinase protein-coding gene gene with protein product Approved 10q22.2 10q22.2 AK adenosine 5'-phosphotransferase 1986-01-01 2020-09-17 132 ENSG00000156110 OTTHUMG00000018506 uc001jwi.4 U50196 NM_006721 "CCDS55716|CCDS7343|CCDS7344|CCDS55717" P55263 8577746 MGI:87930 RGD:2046 102750 289298 objectId:1231 2.7.1.20 HGNC:257 "ENST00000539909.6|NM_006721.4" HGNC:257 +HGNC:259 ADM adrenomedullin protein-coding gene gene with protein product Approved 11p15.4 11p15.4 AM Neuropeptides 1902 1994-12-15 2020-09-17 133 ENSG00000148926 OTTHUMG00000165907 uc001mil.2 D14874 NM_001124 CCDS7801 P35318 7688224 MGI:108058 RGD:2047 103275 ligandId:683 HGNC:259 "ENST00000278175.10|NM_001124.3" +HGNC:55516 ADM-DT ADM divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Divergent transcripts 1990 2021-03-17 2021-03-17 105376544 ENSG00000254554 +HGNC:28898 ADM2 adrenomedullin 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "AM2|FLJ21135" Neuropeptides 1902 2004-02-04 2014-11-19 79924 ENSG00000128165 OTTHUMG00000150202 uc003blj.4 AF529213 NM_024866 CCDS33682 Q7Z4H4 14706825 MGI:2675256 RGD:1302971 608682 ligandId:684 HGNC:28898 "ENST00000395737.2|NM_001253845.2" +HGNC:27293 ADM5 adrenomedullin 5 (putative) protein-coding gene gene with protein product Approved 19q13.33 19q13.33 AM5 C19orf76 "chromosome 19 open reading frame 76|adrenomedullin 5 homolog (pig)" 2009-09-22 2012-10-29 2012-12-07 2016-11-16 199800 ENSG00000224420 OTTHUMG00000183240 uc002pph.3 BC032764 NM_001101340 CCDS46146 C9JUS6 18434369 HGNC:27293 "ENST00000420022.4|NM_001101340.2" +HGNC:15766 ADNP activity dependent neuroprotector homeobox protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "KIAA0784|ADNP1" "ADNP homeobox 1|activity-dependent neuroprotective protein" activity-dependent neuroprotector ZF class homeoboxes and pseudogenes 529 2001-05-31 2016-06-08 2021-05-26 23394 ENSG00000101126 OTTHUMG00000032737 uc002xvt.3 AF250860 NM_181442 CCDS13433 Q9H2P0 "9872452|11013255" MGI:1338758 RGD:71030 611386 8666 406010 HGNC:15766 "ENST00000621696.5|NM_001282531.3" HGNC:15766 +HGNC:51227 ADNP-AS1 ADNP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Antisense RNAs 1987 2014-08-08 2014-08-08 101927631 ENSG00000259456 OTTHUMG00000172534 NR_110009 ADNP-AS1 HGNC:51227 +HGNC:23803 ADNP2 ADNP homeobox 2 protein-coding gene gene with protein product Approved 18q23 18q23 KIAA0863 ZNF508 zinc finger protein 508 "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 2006-06-30 2007-07-17 2007-07-17 2019-03-22 22850 ENSG00000101544 OTTHUMG00000172535 uc032hie.2 AB020670 NM_014913 CCDS32853 Q6IQ32 18179478 MGI:2448562 RGD:1308279 617422 8560 HGNC:23803 "ENST00000262198.9|NM_014913.4" +HGNC:23506 ADO 2-aminoethanethiol dioxygenase protein-coding gene gene with protein product Approved 10q21.3 10q21.3 FLJ14547 cysteamine dioxygenase C10orf22 "chromosome 10 open reading frame 22|2-aminoethanethiol (cysteamine) dioxygenase" 2003-11-21 2007-08-28 2016-06-03 2016-06-03 84890 ENSG00000181915 OTTHUMG00000018306 uc001jmg.4 BC028589 NM_032804 CCDS7266 Q96SZ5 17581819 MGI:2685083 RGD:1308233 611392 1.13.11.19 HGNC:23506 "ENST00000373783.3|NM_032804.6" +HGNC:262 ADORA1 adenosine A1 receptor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 RDC7 Adenosine receptors 211 1991-03-11 2021-05-26 134 ENSG00000163485 OTTHUMG00000042125 uc057onx.1 BC026340 NM_000674 CCDS1434 P30542 "1662665|2541503" MGI:99401 RGD:2048 102775 objectId:18 HGNC:262 "ENST00000337894.9|NM_000674.3" +HGNC:263 ADORA2A adenosine A2a receptor protein-coding gene gene with protein product Approved 22q11.23 22q11.23 RDC8 ADORA2 Adenosine receptors 211 1991-03-11 2020-09-17 135 ENSG00000128271 OTTHUMG00000150761 uc002zzy.6 X68486 NM_000675 CCDS13826 P29274 "1662665|2541503" MGI:99402 RGD:2049 102776 365126 objectId:19 HGNC:263 "ENST00000337539.12|NM_000675.6" +HGNC:37122 ADORA2A-AS1 ADORA2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 FLJ34651 C22orf45 chromosome 22 open reading frame 45 Antisense RNAs 1987 2009-08-15 2012-10-11 2012-10-11 2016-11-09 646023 ENSG00000178803 OTTHUMG00000150735 uc062cjs.1 AK091970 NR_028483 P86434 19726446 ADORA2A-AS1 HGNC:37122 +HGNC:264 ADORA2B adenosine A2b receptor protein-coding gene gene with protein product Approved 17p12 17p12 Adenosine receptors 211 1993-01-19 2020-09-17 136 ENSG00000170425 OTTHUMG00000059140 uc002gpd.2 M97759 NM_000676 CCDS11173 P29275 7558011 MGI:99403 RGD:2050 600446 objectId:20 HGNC:264 "ENST00000304222.3|NM_000676.4" +HGNC:265 ADORA2BP1 adenosine A2b receptor pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 ADORA2BP adenosine A2b receptor pseudogene 1995-08-29 2010-01-12 2010-01-12 2014-02-13 137 ENSG00000236136 OTTHUMG00000036482 NG_000843 7558011 PGOHUM00000245194 HGNC:265 +HGNC:268 ADORA3 adenosine A3 receptor protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "AD026|A3AR" "Adenosine receptors|V-set domain containing" "211|590" 1993-12-13 2021-05-26 140 ENSG00000282608 OTTHUMG00000011957 uc001ebh.5 BC029831 "NM_000677|NM_020683" "CCDS839|CCDS81358" P0DMS8 7607699 MGI:104847 RGD:2051 LRG_424|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_424.xml 600445 objectId:21 HGNC:268 "ENST00000241356.5|NM_000677.4" +HGNC:25250 ADPGK ADP dependent glucokinase protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "DKFZp434B195|ADP-GK" 2004-09-29 2016-06-08 2016-06-08 83440 ENSG00000159322 OTTHUMG00000172777 uc002avf.5 AL136873 NM_031284 CCDS42057 Q9BRR6 11230166 MGI:1919391 RGD:1306103 611861 HGNC:25250 "ENST00000456471.3|NM_001365225.1" +HGNC:44144 ADPGK-AS1 ADPGK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 ADPGK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2019-07-11 100287559 ENSG00000260898 OTTHUMG00000173100 uc002avk.1 AK127877 NR_040107 "29667486|31264061" ADPGK-AS1 HGNC:44144 +HGNC:269 ADPRH ADP-ribosylarginine hydrolase protein-coding gene gene with protein product Approved 3q13.33 03q13.33 ARH1 [Protein ADP-ribosylarginine] hydrolase 1997-06-20 2020-09-17 141 ENSG00000144843 OTTHUMG00000159420 uc062mux.1 L13291 NM_001125 CCDS2990 P54922 "8349667|12070318" MGI:1098234 RGD:2052 603081 3.2.2.19 HGNC:269 "ENST00000357003.8|NM_001125.4" +HGNC:21303 ADPRHL1 ADP-ribosylhydrolase like 1 protein-coding gene gene with protein product Approved 13q34 13q34 ARH2 ADP-ribosylarginine hydrolase like 1 2003-06-19 2016-06-02 113622 ENSG00000153531 OTTHUMG00000017386 uc001vtq.3 AJ313429 NM_138430 "CCDS9536|CCDS9535" Q8NDY3 "12070318|27217161" MGI:2442168 RGD:1305641 610620 HGNC:21303 "ENST00000612156.3|NM_001394807.1" +HGNC:30925 ADPRM ADP-ribose/CDP-alcohol diphosphatase, manganese dependent protein-coding gene gene with protein product Approved 17p13.1 17p13.1 MDS006 C17orf48 "chromosome 17 open reading frame 48|ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent" Sugar phosphatases 1073 2005-12-13 2012-07-20 2016-03-24 2016-03-24 56985 ENSG00000170222 OTTHUMG00000130366 uc002gmt.4 BC070155 NM_020233 CCDS11159 Q3LIE5 18352857 MGI:1913608 RGD:1309906 "3.6.1.13|3.6.1.16|3.6.1.53" HGNC:30925 "ENST00000379774.5|NM_020233.5" +HGNC:21304 ADPRS ADP-ribosylserine hydrolase protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "ARH3|FLJ20446" ADP-ribosylarginine hydrolase like 2 ADPRHL2 ADP-ribosylhydrolase like 2 2003-06-19 2019-11-01 2019-11-01 2019-11-01 54936 ENSG00000116863 OTTHUMG00000007628 uc001bzt.4 AJ427295 NM_017825 CCDS402 Q9NX46 "12070318|16278211|30472116" MGI:2140364 RGD:1309068 610624 HGNC:21304 "ENST00000373178.5|NM_017825.3" +HGNC:277 ADRA1A adrenoceptor alpha 1A protein-coding gene gene with protein product Approved 8p21.2 08p21.2 ADRA1L1 ADRA1C adrenergic, alpha-1A-, receptor Adrenoceptors 169 1991-08-19 2012-05-09 2020-09-17 148 ENSG00000120907 OTTHUMG00000099459 uc010lun.2 L31774 NM_033303 "CCDS83269|CCDS6054|CCDS6053|CCDS6052|CCDS34869" P35348 16685204 MGI:104773 RGD:2055 104221 objectId:22 HGNC:277 "ENST00000380573.4|NM_000680.4" +HGNC:278 ADRA1B adrenoceptor alpha 1B protein-coding gene gene with protein product Approved 5q33.3 05q33.3 adrenergic, alpha-1B-, receptor Adrenoceptors 169 1991-06-04 2012-05-09 2020-09-17 147 ENSG00000170214 OTTHUMG00000130327 uc003lxt.2 L31773 NM_000679 CCDS4347 P35368 7698768 MGI:104774 RGD:2054 104220 objectId:23 HGNC:278 "ENST00000306675.5|NM_000679.4" +HGNC:280 ADRA1D adrenoceptor alpha 1D protein-coding gene gene with protein product Approved 20p13 20p13 "ADRA1R|ADRA1A|ADRA1" adrenergic, alpha-1D-, receptor Adrenoceptors 169 1990-09-10 2012-05-09 2020-09-17 146 ENSG00000171873 OTTHUMG00000031779 uc002wkr.3 U03864 NM_000678 CCDS13079 P25100 8039425 MGI:106673 RGD:62064 104219 objectId:24 HGNC:280 "ENST00000379453.6|NM_000678.4" +HGNC:281 ADRA2A adrenoceptor alpha 2A protein-coding gene gene with protein product Approved 10q25.2 10q25.2 ADRAR "alpha-2AAR subtype C10|alpha-2A-adrenergic receptor" "ADRA2|ADRA2R" adrenergic, alpha-2A-, receptor Adrenoceptors 169 1990-09-10 2012-05-09 2022-03-08 150 ENSG00000150594 OTTHUMG00000019050 uc001kzo.4 AF284095 NM_000681 CCDS7569 P08913 9344667 MGI:87934 RGD:2056 LRG_545|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_545.xml 104210 objectId:25 HGNC:281 "ENST00000280155.4|NM_000681.4" HGNC:281 +HGNC:282 ADRA2B adrenoceptor alpha 2B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 ADRARL1 "ADRA2L1|ADRA2RL1" adrenergic, alpha-2B-, receptor Adrenoceptors 169 1990-09-10 2012-05-09 2021-05-26 151 ENSG00000274286 OTTHUMG00000188276 uc032nvj.2 M34041 NM_000682 CCDS56129 P18089 2164221 MGI:87935 RGD:2057 104260 395886 objectId:26 HGNC:282 "ENST00000620793.2|NM_000682.7" HGNC:282 +HGNC:283 ADRA2C adrenoceptor alpha 2C protein-coding gene gene with protein product Approved 4p16.3 04p16.3 ADRARL2 "ADRA2L2|ADRA2RL2" adrenergic, alpha-2C-, receptor Adrenoceptors 169 1986-01-01 2012-05-09 2020-09-17 152 ENSG00000184160 OTTHUMG00000159830 uc003ghm.4 AY455666 NM_000683 CCDS47004 P18825 1849485 MGI:87936 RGD:2058 104250 objectId:27 HGNC:283 "ENST00000330055.7|NM_000683.4" +HGNC:285 ADRB1 adrenoceptor beta 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 ADRB1R adrenergic, beta-1-, receptor Adrenoceptors 169 1990-09-10 2012-05-09 2020-09-17 153 ENSG00000043591 OTTHUMG00000019079 uc001lba.4 J03019 NM_000684 CCDS7586 P08588 MGI:87937 RGD:2059 109630 objectId:28 HGNC:285 "ENST00000369295.4|NM_000684.3" +HGNC:286 ADRB2 adrenoceptor beta 2 protein-coding gene gene with protein product Approved 5q32 05q32 "ADRBR|BAR|B2AR" ADRB2R "adrenergic, beta-2-, receptor, surface|adrenoceptor beta 2, surface" Adrenoceptors 169 1990-09-10 2015-11-26 2016-10-05 154 ENSG00000169252 OTTHUMG00000129933 uc003lpr.3 AF022953 NM_000024 CCDS4292 P07550 MGI:87938 RGD:2060 109690 objectId:29 HGNC:286 "ENST00000305988.6|NM_000024.6" +HGNC:288 ADRB3 adrenoceptor beta 3 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 adrenergic, beta-3-, receptor Adrenoceptors 169 1993-10-04 2012-05-09 2020-09-17 155 ENSG00000188778 OTTHUMG00000164028 uc003xkr.3 AY487247 NM_000025 CCDS6099 P13945 "7898940|15123695" MGI:87939 RGD:2061 109691 objectId:30 HGNC:288 "ENST00000345060.5|NM_000025.3" +HGNC:15759 ADRM1 ADRM1 26S proteasome ubiquitin receptor protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "GP110|Rpn13|ARM1|PSMD16" adhesion regulating molecule 1 Proteasome 690 2001-09-17 2021-02-25 2021-02-25 11047 ENSG00000130706 OTTHUMG00000032904 uc002ycn.5 D64154 NM_001281437 "CCDS13496|CCDS74747" Q16186 "8033103|18497817" MGI:1929289 RGD:69248 610650 HGNC:15759 "ENST00000253003.7|NM_007002.4" +HGNC:291 ADSL adenylosuccinate lyase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Purinosome 1569 1986-01-01 2021-05-26 158 ENSG00000239900 OTTHUMG00000166425 uc003ayp.5 X65867 NM_000026 "CCDS46714|CCDS14001|CCDS87029" P30566 8404037 MGI:103202 RGD:1307617 Adenylosuccinate Lyase Mutations Database Home Page|http://www.icp.ucl.ac.be/adsldb/ 608222 119507 4.3.2.2 HGNC:291 "ENST00000623063.3|NM_000026.4" HGNC:291 +HGNC:20093 ADSS1 adenylosuccinate synthase 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 FLJ38602 ADSSL1 adenylosuccinate synthase like 1 2002-12-17 2019-07-11 2019-07-11 2021-05-26 122622 ENSG00000185100 OTTHUMG00000170818 uc001ypd.5 AK095921 NM_001320424 "CCDS9990|CCDS9991" Q8N142 "15786719|26506222" MGI:87947 RGD:1590342 612498 469928 6.3.4.4 HGNC:20093 "ENST00000330877.7|NM_152328.5" +HGNC:292 ADSS2 adenylosuccinate synthase 2 protein-coding gene gene with protein product Approved 1q44 01q44 ADSS adenylosuccinate synthase 1989-05-19 2019-07-11 2019-07-11 2020-09-17 159 ENSG00000035687 OTTHUMG00000040102 uc001iaj.4 BC012356 NM_001126 CCDS1624 P30520 "2004783|1592113" MGI:87948 RGD:1310508 103060 6.3.4.4 HGNC:292 "ENST00000366535.4|NM_001126.5" +HGNC:21214 ADTRP androgen dependent TFPI regulating protein protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "dJ413H6.1|AIG1L" androgen-induced 1-like C6orf105 "chromosome 6 open reading frame 105|androgen-dependent TFPI-regulating protein" 2003-11-25 2012-01-27 2016-02-24 2022-01-05 84830 ENSG00000111863 OTTHUMG00000014260 uc003nab.4 AJ420520 NM_032744 "CCDS4521|CCDS47374" Q96IZ2 "21868574|34797389" MGI:1924596 RGD:1305679 614348 HGNC:21214 "ENST00000414691.8|NM_032744.4" +HGNC:303 AEBP1 AE binding protein 1 protein-coding gene gene with protein product Approved 7p13 07p13 ACLP "aortic carboxypeptidase-like protein|adipocyte enhancer binding protein 1" AE-binding protein 1 "M14 carboxypeptidases|MicroRNA protein coding host genes" "1321|1691" 1998-03-06 2001-11-28 2021-05-26 165 ENSG00000106624 OTTHUMG00000023362 uc003tkb.5 D86479 NM_001129 CCDS5476 Q8IUX7 8920928 MGI:1197012 RGD:1306922 602981 M14.951 objectId:1586 HGNC:303 "ENST00000223357.8|NM_001129.5" HGNC:303 +HGNC:24051 AEBP2 AE binding protein 2 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 MGC17922 Zinc fingers C2H2-type 28 2004-03-18 2012-10-02 121536 ENSG00000139154 OTTHUMG00000168906 uc001ref.2 NM_153207 "CCDS58215|CCDS44842|CCDS44841" Q6ZN18 10329662 MGI:1338038 RGD:1307233 617934 HGNC:24051 "ENST00000266508.14|NM_153207.5" +HGNC:25722 AEN apoptosis enhancing nuclease protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "FLJ12484|FLJ12562" ISG20L1 interferon stimulated exonuclease gene 20kDa-like 1 "Exonucleases|MicroRNA protein coding host genes" "544|1691" 2005-06-30 2008-07-15 2008-07-15 2014-11-19 64782 ENSG00000181026 OTTHUMG00000148681 uc002bmt.3 BC020988 NM_022767 CCDS10344 Q8WTP8 "18264133|16171785" MGI:1915298 RGD:1305051 610177 HGNC:25722 "ENST00000332810.4|NM_022767.4" +HGNC:24017 AFAP1 actin filament associated protein 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "AFAP-110|AFAP" Pleckstrin homology domain containing 682 2007-02-07 2007-02-07 2016-10-05 60312 ENSG00000196526 OTTHUMG00000125515 uc003gkg.2 AB209676 NM_021638 "CCDS3397|CCDS47010" Q8N556 "14755689|11641786|11607843" MGI:1917542 RGD:619959 608252 HGNC:24017 "ENST00000420658.6|NM_001134647.2" +HGNC:28141 AFAP1-AS1 AFAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 MGC10981 "AFAP1AS|AFAP1-AS" "AFAP1 antisense RNA (non-protein coding)|AFAP1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-07-08 2010-11-25 2012-08-15 2016-11-24 84740 ENSG00000272620 OTTHUMG00000186238 uc003gkd.5 BC004397 NR_026892 "23333711|26892468" 619779 AFAP1AS HGNC:28141 +HGNC:26714 AFAP1L1 actin filament associated protein 1 like 1 protein-coding gene gene with protein product Approved 5q32 05q32 FLJ36748 actin filament associated protein 1-like 1 Pleckstrin homology domain containing 682 2007-02-07 2015-11-26 2019-03-26 134265 ENSG00000157510 OTTHUMG00000163441 uc003lqh.4 AK094067 NM_152406 "CCDS54932|CCDS34274" Q8TED9 21333378 MGI:2147199 RGD:1311580 614410 HGNC:26714 "ENST00000296721.9|NM_152406.4" +HGNC:25901 AFAP1L2 actin filament associated protein 1 like 2 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ14564|Em:AC005383.4|XB130" KIAA1914 "KIAA1914|actin filament associated protein 1-like 2" Pleckstrin homology domain containing 682 2004-02-18 2007-02-07 2015-11-26 2016-10-05 84632 ENSG00000169129 OTTHUMG00000019086 uc001lbn.5 BC024314 NM_032550 "CCDS31287|CCDS31286" Q8N4X5 "11572484|17412687" MGI:2147658 RGD:1310668 612420 HGNC:25901 "ENST00000304129.9|NM_001001936.3" +HGNC:7137 AFDN afadin, adherens junction formation factor protein-coding gene gene with protein product Approved 6q27 06q27 "AF-6|AF6" MLLT4 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4 PDZ domain containing 1220 1994-09-06 2016-06-28 2016-06-28 2016-06-28 4301 ENSG00000130396 OTTHUMG00000016031 uc063sxr.1 AB011399 NM_005936 "CCDS47517|CCDS78199|CCDS75553" P55196 8242616 MGI:1314653 RGD:708561 AFDN 159559 HGNC:7137 "ENST00000683244.1|NM_001386888.1" +HGNC:21236 AFDN-DT AFDN divergent transcript non-coding RNA RNA, long non-coding Approved 6q27 06q27 "HGC6.4|dJ431P23.3|XBP1SBM" XBP1s binding micropeptide "C6orf124|MLLT4-AS1|AFDN-AS1" "chromosome 6 open reading frame 124|MLLT4 antisense RNA 1 (non-protein coding)|MLLT4 antisense RNA 1 (head to head)|AFDN antisense RNA 1 (head to head)" Divergent transcripts 1990 2003-05-29 2017-09-21 2017-09-21 2022-02-24 653483 ENSG00000198221 OTTHUMG00000016029 uc003qwa.3 NR_027906 Q9Y6Z5 "10382971|31981317|35197570" HGNC:21236 +HGNC:7135 AFF1 AF4/FMR2 family member 1 protein-coding gene gene with protein product Approved 4q21.3-q22.1 04q21.3-q22.1 "AF-4|AF4" "PBM1|MLLT2" "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2|pre-B-cell monocytic leukemia partner 1|AF4/FMR2 family, member 1" "AF4/FMR2 family|Super elongation complex" "1145|1280" 2005-06-27 2015-11-18 2018-02-13 4299 ENSG00000172493 OTTHUMG00000130603 uc003hqj.5 L22179 NM_005935 "CCDS54775|CCDS3616" P51825 "7689231|1423625|8353274" MGI:1100819 RGD:1307940 AFF1 159557 171634 HGNC:7135 "ENST00000395146.9|NM_001166693.3" +HGNC:53447 AFF1-AS1 AFF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.3 04q21.3 Antisense RNAs 1987 2017-04-19 2017-04-19 100506746 NR_038841 HGNC:53447 +HGNC:3776 AFF2 AF4/FMR2 family member 2 protein-coding gene gene with protein product Approved Xq28 Xq28 FRAXE FMR2 "fragile X mental retardation 2|AF4/FMR2 family, member 2" "AF4/FMR2 family|Super elongation complex" "1145|1280" 2005-06-27 2015-11-18 2021-05-26 2334 ENSG00000155966 OTTHUMG00000022613 uc004fcp.3 U48436 NM_002025 "CCDS55521|CCDS14684|CCDS76040|CCDS78510" P51816 22065534 MGI:1202294 RGD:1565592 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AFF2 300806 119509 HGNC:3776 "ENST00000370460.7|NM_002025.4" HGNC:3776 +HGNC:41334 AFF2-IT1 AFF2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 AFF2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874269 ENSG00000223516 OTTHUMG00000022611 uc065bmd.1 AFF2-IT1 +HGNC:6473 AFF3 AF4/FMR2 family member 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 MLLT2-like LAF4 "lymphoid nuclear protein related to AF4|AF4/FMR2 family, member 3" "AF4/FMR2 family|Super elongation complex" "1145|1280" 1998-03-27 2005-06-27 2015-11-18 2021-05-26 3899 ENSG00000144218 OTTHUMG00000153011 uc002tah.2 U34360 NM_002285 "CCDS33258|CCDS42723" P51826 "8662235|8555498" MGI:106927 RGD:1308527 AFF3 601464 HGNC:6473 "ENST00000672756.2|NM_001386135.1" +HGNC:17869 AFF4 AF4/FMR2 family member 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "AF5Q31|MCEF" ALL1 fused gene from 5q31 AF4/FMR2 family, member 4 "AF4/FMR2 family|Super elongation complex" "1145|1280" 2005-06-27 2015-11-18 2021-05-26 27125 ENSG00000072364 OTTHUMG00000059838 uc003kyd.4 AF197927 NM_014423 CCDS4164 Q9UHB7 10588740 MGI:2136171 RGD:1311694 AFF4 604417 448667 HGNC:17869 "ENST00000265343.10|NM_014423.4" HGNC:17869 +HGNC:55235 AFF4-DT AFF4 divergent transcript non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 Divergent transcripts 1990 2020-09-16 2020-09-16 118597833 ENSG00000272023 +HGNC:16411 AFG1L AFG1 like ATPase protein-coding gene gene with protein product Approved 6q21 06q21 AFG1 ATPase family gene 1 homolog (S. cerevisiae) LACE1 lactation elevated 1 2002-06-07 2017-03-09 2017-03-09 2017-03-09 246269 ENSG00000135537 OTTHUMG00000015324 uc003psj.4 AF520418 NM_145315 CCDS5067 Q8WV93 12079282 MGI:2148801 RGD:1561501 617469 HGNC:16411 "ENST00000368977.9|NM_145315.5" +HGNC:314 AFG3L1P AFG3 like matrix AAA peptidase subunit 1, pseudogene pseudogene pseudogene Approved 16q24.3 16q24.3 "AFG3|AFG3L1" "AFG3 ATPase family gene 3-like 1 (S. cerevisiae), pseudogene|AFG3 like AAA ATPase 1, pseudogene" AAA ATPases 413 1997-04-10 2010-10-28 2016-02-26 2016-02-26 172 ENSG00000223959 OTTHUMG00000138987 AJ001495 NR_003226 "9545647|11549317" MGI:1928277 603020 PGOHUM00000249187 M41.010 HGNC:314 +HGNC:315 AFG3L2 AFG3 like matrix AAA peptidase subunit 2 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 SPAX5 SCA28 "AFG3 (ATPase family gene 3, yeast)-like 2|spinocerebellar ataxia 28|AFG3 ATPase family member 3-like 2 (S. cerevisiae)|AFG3 like AAA ATPase 2" AAA ATPases 413 1999-07-13 2016-02-26 2021-05-26 10939 ENSG00000141385 OTTHUMG00000131695 uc002kqz.3 Y18314 NM_006796 CCDS11859 Q9Y4W6 "10395799|18769991" MGI:1916847 RGD:1305259 LRG_666|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_666.xml 604581 212604 M41.007 HGNC:315 "ENST00000269143.8|NM_006796.3" HGNC:315 +HGNC:24169 AFG3L2P1 AFG3L2 pseudogene 1 pseudogene pseudogene Approved 8p11.1 08p11.1 AFG3L2P AFG3 ATPase family gene 3-like 2 (yeast) pseudogene 2005-10-05 2010-01-12 2020-09-08 2020-09-08 347028 ENSG00000253606 OTTHUMG00000164107 NG_016585 PGOHUM00000249313 HGNC:24169 +HGNC:316 AFM afamin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "ALB2|ALBA" 1994-12-09 2020-09-17 173 ENSG00000079557 OTTHUMG00000130004 uc003hhb.4 L32140 NM_001133 CCDS3557 P43652 7517938 MGI:2429409 RGD:628614 104145 HGNC:316 "ENST00000226355.5|NM_001133.2" +HGNC:20910 AFMID arylformamidase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "DKFZp686F03259|KF" kynurenine formamidase 2004-01-30 2019-03-26 125061 ENSG00000183077 OTTHUMG00000153957 uc002jva.3 BX648442 NM_001145526 "CCDS32750|CCDS45801" Q63HM1 29449409 MGI:2448704 RGD:1591143 S09.977 3.5.1.9 HGNC:20910 "ENST00000409257.10|NM_001010982.5" +HGNC:317 AFP alpha fetoprotein protein-coding gene gene with protein product Approved 4q13.3 04q13.3 FETA alpha-fetoprotein HPAFP 1996-04-01 2016-01-13 2021-11-12 174 ENSG00000081051 OTTHUMG00000130011 uc003hgz.3 V01514 NM_001134 CCDS3556 P02771 2580830 MGI:87951 RGD:2065 104150 173230 HGNC:317 "ENST00000395792.7|NM_001134.3" HGNC:317 +HGNC:25951 AFTPH aftiphilin protein-coding gene gene with protein product Approved 2p14 02p14 "MGC33965|FLJ20080|FLJ23793|Nbla10388" MicroRNA protein coding host genes 1691 2006-06-19 2017-06-30 54812 ENSG00000119844 OTTHUMG00000129539 uc002sdb.5 AB073356 NM_017657 "CCDS1878|CCDS46303" Q6ULP2 "14665628|15758025|15811338" MGI:1923012 RGD:1311920 619628 HGNC:25951 +HGNC:52788 AFTPH-DT AFTPH divergent transcript non-coding RNA RNA, long non-coding Approved 2p14 02p14 Divergent transcripts 1990 2020-12-21 2020-12-21 101927402 ENSG00000260101 NR_136167 +HGNC:318 AGA aspartylglucosaminidase protein-coding gene gene with protein product Approved 4q34.3 04q34.3 ASRG "glycosylasparaginase|N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase" 1991-05-09 2021-05-26 175 ENSG00000038002 OTTHUMG00000160723 uc003iuu.3 X55330 NM_000027 CCDS3829 P20933 "1505217|28063748" MGI:104873 RGD:1309646 613228 119513 T02.001 3.5.1.26 HGNC:318 "ENST00000264595.7|NM_000027.4" HGNC:318 +HGNC:27730 AGA-DT AGA divergent transcript non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 Divergent transcripts 1990 2021-04-07 2021-04-07 285500 ENSG00000250131 XR_001741928 +HGNC:16922 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 protein-coding gene gene with protein product Approved 2q37.2 02q37.2 "KIAA1099|GGAP1" CENTG2 centaurin, gamma 2 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-10-29 2008-09-22 2008-09-22 2019-03-26 116987 ENSG00000157985 OTTHUMG00000133293 uc002vvt.4 AF413078 NM_014914 "CCDS2514|CCDS33408|CCDS58756" Q9UPQ3 12388557 MGI:2653690 RGD:1309244 608651 HGNC:16922 "ENST00000304032.13|NM_001037131.3" +HGNC:41427 AGAP1-IT1 AGAP1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q37.2 02q37.2 AGAP1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100506749 ENSG00000235529 OTTHUMG00000153124 uc061txt.1 NR_131900 AGAP1-IT1 HGNC:41427 +HGNC:16921 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 CENTG1 centaurin, gamma 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-10-29 2008-09-22 2008-09-22 2019-03-26 116986 ENSG00000135439 OTTHUMG00000170285 uc001spr.4 AF413077 NM_014770 "CCDS8951|CCDS44932" Q99490 16079295 MGI:3580016 RGD:628844 605476 HGNC:16921 "ENST00000547588.6|NM_001122772.3" +HGNC:48633 AGAP2-AS1 AGAP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 "LOC100130776|PUNISHER" Antisense RNAs 1987 2013-05-30 2019-06-19 100130776 ENSG00000255737 OTTHUMG00000170286 "BC039697|BC069024" NR_027032 "25392693|27195672|31186379" AGAP2-AS1 HGNC:48633 +HGNC:16923 AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 CENTG3 centaurin, gamma 3 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-10-29 2008-09-22 2008-09-22 2019-03-26 116988 ENSG00000133612 OTTHUMG00000158724 uc003wjg.3 AF413079 NM_031946 "CCDS55185|CCDS64802|CCDS78287|CCDS43681|CCDS83243" Q96P47 23904596 MGI:2183446 RGD:1310751 616813 HGNC:16923 "ENST00000397238.7|NM_031946.7" +HGNC:23459 AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "Em:AC012044.1|MRIP2" "CTGLF1|AGAP8|CTGLF5" "centaurin, gamma-like family, member 1|ArfGAP with GTPase domain, ankyrin repeat and PH domain 8|centaurin, gamma-like family, member 5" "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2004-05-27 2008-09-22 2008-09-22 2016-10-05 119016 ENSG00000188234 OTTHUMG00000018088 uc057szm.1 AF411132 NM_133446 CCDS7215 Q96P64 12477932 MGI:2653690 HGNC:23459 "ENST00000616763.6|NM_001276343.3" +HGNC:23467 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 Em:AC073389.1 CTGLF2 centaurin, gamma-like family, member 2 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2004-05-27 2008-09-22 2008-09-22 2016-10-18 729092 ENSG00000172650 OTTHUMG00000018473 uc009xri.4 NM_001144000 CCDS44439 A6NIR3 MGI:2653690 HGNC:23467 "ENST00000374094.9|NM_001144000.4" +HGNC:23466 AGAP6 ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 bA324H6.1 CTGLF3 centaurin, gamma-like family, member 3 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2004-05-27 2008-09-22 2008-09-22 2015-08-27 414189 ENSG00000204149 OTTHUMG00000018220 uc001jix.5 NM_001077665 CCDS44397 Q5VW22 MGI:2653690 HGNC:23466 "ENST00000412531.7|NM_001077665.3" +HGNC:23465 AGAP7P ArfGAP with GTPase domain, ankyrin repeat and PH domain 7, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 bA109G10.1 "CTGLF4|AGAP7" "centaurin, gamma-like family, member 4|ArfGAP with GTPase domain, ankyrin repeat and PH domain 7" "ArfGAPs|Ankyrin repeat domain containing" "395|403" 2004-05-27 2014-06-12 2014-06-12 2021-10-07 653268 ENSG00000264204 OTTHUMG00000188316 NR_126580 Q5VUJ5 MGI:2653690 HGNC:23465 +HGNC:23463 AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "bA301J7.2|FLJ00312" CTGLF6 centaurin, gamma-like family, member 6 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2004-05-27 2008-09-22 2008-09-22 2016-10-18 642517 ENSG00000204172 OTTHUMG00000018115 uc031wfn.1 NM_001190810 CCDS73125 Q5VTM2 MGI:2653690 HGNC:23463 "ENST00000452145.6|NM_001190810.1" +HGNC:23659 AGAP10P ArfGAP with GTPase domain, ankyrin repeat and PH domain 10, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 "bA358L16.1|bA144G6.2" "AGAP10|CTGLF7|CTGLF10P" "ArfGAP with GTPase domain, ankyrin repeat and PH domain 10|centaurin, gamma-like family, member 7|centaurin, gamma-like family, member 10 pseudogene|ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 pseudogene" ArfGAPs 395 2004-05-27 2015-02-05 2018-10-10 2018-10-10 653234 ENSG00000230869 OTTHUMG00000018083 NG_005805 HGNC:23659 +HGNC:29421 AGAP11 ArfGAP with GTPase domain, ankyrin repeat and PH domain 11 other unknown Approved 10q23.2 10q23.2 KIAA1975 ankyrin repeat and GTPase domain Arf GTPase activating protein 11 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2008-09-22 2015-11-17 2020-11-17 119385 ENSG00000261011 OTTHUMG00000185463 uc057urd.1 NM_133447 Q8TF27 11853319 MGI:2653690 HGNC:29421 +HGNC:23661 AGAP12P ArfGAP with GTPase domain, ankyrin repeat and PH domain 12, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 bA164N7.2 CTGLF12P centaurin, gamma-like family, member 12 pseudogene ArfGAPs 395 2004-05-27 2015-11-17 2015-11-17 2015-11-17 414224 ENSG00000265018 OTTHUMG00000018164 BC127745 NR_029396 PGOHUM00000289853 HGNC:23661 +HGNC:23499 AGAP13P ArfGAP with GTPase domain, ankyrin repeat and PH domain 13, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 bA548K23.1 CTGLF9P centaurin, gamma-like family, member 9 pseudogene ArfGAPs 395 2004-05-27 2015-11-17 2015-11-17 2015-11-17 728005 ENSG00000243289 OTTHUMG00000018095 AF411132 NR_165819 PGOHUM00000290147 HGNC:23499 +HGNC:23660 AGAP14P ArfGAP with GTPase domain, ankyrin repeat and PH domain 14, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 bA145E20.1 "CTGLF11P|AGAP14" "centaurin, gamma-like family, member 11 pseudogene|ArfGAP with GTPase domain, ankyrin repeat and PH domain 14" ArfGAPs 395 2004-05-27 2017-08-14 2017-08-14 2017-08-14 653259 ENSG00000279058 OTTHUMG00000192004 uc057szz.1 NG_005806 HGNC:23660 +HGNC:26504 AGBL1 AGBL carboxypeptidase 1 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "FLJ32310|CCP4" cytosolic carboxypeptidase 4 ATP/GTP binding protein like 1 "M14 carboxypeptidases|Armadillo like helical domain containing" "1321|1492" 2004-11-19 2021-02-04 2021-02-04 123624 ENSG00000273540 OTTHUMG00000149978 uc002blz.2 AK056872 NM_152336 CCDS58398 Q96MI9 "21074048|24094747" MGI:3646469 RGD:1560280 615496 368101 HGNC:26504 "ENST00000614907.3|NM_001386094.1" HGNC:26504 +HGNC:48617 AGBL1-AS1 AGBL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.3 15q25.3 Antisense RNAs 1987 2013-05-24 2013-05-24 727915 ENSG00000260125 OTTHUMG00000172872 NR_046012 AGBL1-AS1 HGNC:48617 +HGNC:26296 AGBL2 AGBL carboxypeptidase 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ23598|CCP2" cytoplasmic carboxypeptidase 2 ATP/GTP binding protein like 2 M14 carboxypeptidases 1321 2005-05-26 2021-02-04 2021-02-04 79841 ENSG00000165923 OTTHUMG00000165368 uc001ngg.4 NM_024783 CCDS7944 Q5U5Z8 "12738998|21303978" MGI:2443254 RGD:1306827 617345 HGNC:26296 "ENST00000525123.6|NM_024783.4" HGNC:26296 +HGNC:27981 AGBL3 AGBL carboxypeptidase 3 protein-coding gene gene with protein product Approved 7q33 07q33 "MGC32955|CCP3" ATP/GTP binding protein like 3 M14 carboxypeptidases 1321 2005-05-26 2021-02-04 2021-02-04 340351 ENSG00000146856 OTTHUMG00000155406 uc011kpw.2 BC030651 NM_178563 CCDS47718 Q8NEM8 MGI:1923473 RGD:1561995 617346 M14.026 HGNC:27981 "ENST00000436302.6|NM_178563.4" +HGNC:25892 AGBL4 AGBL carboxypeptidase 4 protein-coding gene gene with protein product Approved 1p33 01p33 "FLJ14442|CCP6" cytosolic carboxypeptidase 6 ATP/GTP binding protein like 4 M14 carboxypeptidases 1321 2005-05-26 2021-02-04 2021-02-04 84871 ENSG00000186094 OTTHUMG00000007793 uc001cru.3 AK027348 NM_032785 CCDS44137 Q5VU57 21074048 MGI:1918244 RGD:6493177 616476 M14.027 HGNC:25892 "ENST00000371839.6|NM_032785.4" +HGNC:41123 AGBL4-AS1 AGBL4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 Antisense RNAs 1987 2019-07-19 2019-07-19 101929721 ENSG00000230114 OTTHUMG00000008156 NR_125988 HGNC:41123 +HGNC:41482 AGBL4-IT1 AGBL4 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 AGBL4 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874313 ENSG00000225623 OTTHUMG00000008155 uc031tzy.1 NR_046839 AGBL4-IT1 HGNC:41482 +HGNC:26147 AGBL5 AGBL carboxypeptidase 5 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ21839|CCP5" cytosolic carboxypeptidase 5 ATP/GTP binding protein like 5 M14 carboxypeptidases 1321 2007-03-27 2021-02-04 2021-02-04 60509 ENSG00000084693 OTTHUMG00000128406 uc002rie.4 BC007415 NM_021831 "CCDS42665|CCDS1732" Q8NDL9 24022482 MGI:2441745 RGD:1598311 615900 461232 HGNC:26147 "ENST00000360131.5|NM_021831.6" HGNC:26147 +HGNC:41133 AGBL5-AS1 AGBL5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 AGBL5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-08 2012-08-15 2021-07-22 100874031 ENSG00000231636 OTTHUMG00000151996 uc061hjm.1 NR_046730 AGBL5-AS1 HGNC:41133 +HGNC:41484 AGBL5-IT1 AGBL5 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 AGBL5 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 106481744 ENSG00000229122 OTTHUMG00000151991 uc061hjv.1 AGBL5-IT1 +HGNC:320 AGER advanced glycosylation end-product specific receptor protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "RAGE|SCARJ1|sRAGE" receptor for advanced glycation end-products "C2-set domain containing|Scavenger receptors" "592|1253" 1994-10-17 2016-07-18 2021-01-26 177 ENSG00000204305 OTTHUMG00000031120 uc003oal.3 M91211 NM_001136 "CCDS56417|CCDS75429|CCDS4746|CCDS4747|CCDS56418" Q15109 7713518 MGI:893592 RGD:69258 600214 objectId:2843 HGNC:320 "ENST00000375076.9|NM_001136.5" +HGNC:5175 AGFG1 ArfGAP with FG repeats 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "RIP|RAB" HRB HIV-1 Rev binding protein "ArfGAPs|MicroRNA protein coding host genes" "395|1691" 1996-11-15 2008-09-22 2008-09-22 2016-10-05 3267 ENSG00000173744 OTTHUMG00000133186 uc002vpc.3 NM_004504 "CCDS46534|CCDS46535|CCDS2467|CCDS46533" P52594 7637788 MGI:1333754 RGD:1560041 600862 HGNC:5175 "ENST00000310078.13|NM_004504.5" +HGNC:5177 AGFG2 ArfGAP with FG repeats 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 RABR HRBL HIV-1 Rev binding protein-like ArfGAPs 395 1998-06-03 2008-09-22 2008-09-22 2014-11-18 3268 ENSG00000106351 OTTHUMG00000156029 uc003uvf.4 AF015042 NM_006076 CCDS5697 O95081 9799793 MGI:2443267 RGD:1306590 604019 HGNC:5177 "ENST00000300176.9|NM_006076.5" +HGNC:24684 AGGF1 angiogenic factor with G-patch and FHA domains 1 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "VG5Q|HSU84971|FLJ10283|GPATC7|GPATCH7" G-patch domain containing 579 2004-12-14 2015-11-13 2015-11-13 55109 ENSG00000164252 OTTHUMG00000102132 uc003ket.4 AK001145 NM_018046 CCDS4035 Q8N302 "18564129|17103452" MGI:1913799 RGD:1310888 608464 119516 HGNC:24684 "ENST00000312916.12|NM_018046.5" +HGNC:38051 AGGF1P1 angiogenic factor with G-patch and FHA domains 1 pseudogene 1 pseudogene pseudogene Approved 4q35.2 04q35.2 2010-03-31 2015-11-13 2015-11-13 100132380 ENSG00000214273 OTTHUMG00000160174 NG_022094 PGOHUM00000300469 HGNC:38051 +HGNC:38052 AGGF1P2 angiogenic factor with G-patch and FHA domains 1 pseudogene 2 pseudogene pseudogene Approved 10q26.3 10q26.3 2010-04-01 2015-11-13 2015-11-13 644435 ENSG00000233435 OTTHUMG00000019330 NG_005569 PGOHUM00000290323 HGNC:38052 +HGNC:38053 AGGF1P3 angiogenic factor with G-patch and FHA domains 1 pseudogene 3 pseudogene pseudogene Approved 3p12.3 03p12.3 2010-04-01 2015-11-13 2015-11-13 391552 ENSG00000241532 OTTHUMG00000158959 NG_022208 PGOHUM00000299074 HGNC:38053 +HGNC:38054 AGGF1P4 angiogenic factor with G-patch and FHA domains 1 pseudogene 4 pseudogene pseudogene Approved 16p11.1 16p11.1 2010-04-01 2015-11-13 2015-11-13 100129351 ENSG00000261689 OTTHUMG00000176252 NG_022503 PGOHUM00000293577 HGNC:38054 +HGNC:51741 AGGF1P5 angiogenic factor with G-patch and FHA domains 1 pseudogene 5 pseudogene pseudogene Approved 16p11.1 16p11.1 2015-05-18 2015-11-13 2015-11-13 100128103 ENSG00000260680 OTTHUMG00000176001 NG_022516 PGOHUM00000293837 HGNC:51741 +HGNC:51744 AGGF1P6 angiogenic factor with G-patch and FHA domains 1 pseudogene 6 pseudogene pseudogene Approved 16p11.1 16p11.1 2015-05-18 2015-11-13 2015-11-13 106481737 ENSG00000259836 OTTHUMG00000176006 NG_043510 PGOHUM00000293839 HGNC:51744 +HGNC:51740 AGGF1P7 angiogenic factor with G-patch and FHA domains 1 pseudogene 7 pseudogene pseudogene Approved 16p11.1 16p11.1 2015-05-18 2015-11-13 2015-11-13 100132606 ENSG00000260994 OTTHUMG00000176014 NG_022517 PGOHUM00000293841 HGNC:51740 +HGNC:51745 AGGF1P8 angiogenic factor with G-patch and FHA domains 1 pseudogene 8 pseudogene pseudogene Approved 16p11.2 16p11.2 2015-05-18 2015-11-13 2015-11-13 100128804 ENSG00000261752 OTTHUMG00000176245 NG_022514 PGOHUM00000293833 HGNC:51745 +HGNC:51746 AGGF1P9 angiogenic factor with G-patch and FHA domains 1 pseudogene 9 pseudogene pseudogene Approved 16p11.1 16p11.1 2015-05-18 2015-11-13 2015-11-13 100127958 ENSG00000260427 OTTHUMG00000176248 NG_022515 PGOHUM00000293835 HGNC:51746 +HGNC:51747 AGGF1P10 angiogenic factor with G-patch and FHA domains 1 pseudogene 10 pseudogene pseudogene Approved 20q11.1 20q11.1 2015-05-18 2015-11-13 2016-11-09 100288774 ENSG00000282968 OTTHUMG00000191526 NG_046386 PGOHUM00000297086 HGNC:51747 +HGNC:21869 AGK acylglycerol kinase protein-coding gene gene with protein product Approved 7q34 07q34 FLJ10842 MULK multiple substrate lipid kinase 2005-02-01 2007-01-11 2007-01-11 2021-05-26 55750 ENSG00000006530 OTTHUMG00000157499 uc003vwi.3 BC022777 NM_018238 CCDS5865 Q53H12 "15252046|15939762|17135245" MGI:1917173 RGD:1562046 LRG_1251|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1251.xml 610345 286552 2.7.1.94 HGNC:21869 "ENST00000649286.2|NM_018238.4" HGNC:21869 +HGNC:55356 AGK-DT AGK divergent transcript non-coding RNA RNA, long non-coding Approved 7q34 07q34 Divergent transcripts 1990 2020-11-05 2020-11-05 105375538 ENSG00000261570 XR_001744991 +HGNC:37661 AGKP1 AGK pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 AGKY1 acylglycerol kinase Y-linked pseudogene 1 acylglycerol kinase pseudogene 1 2009-12-16 2020-07-03 2020-07-03 359793 ENSG00000226555 OTTHUMG00000036620 NG_002810 PGOHUM00000233964 HGNC:37661 +HGNC:55132 AGKP2 AGK pseudogene 2 pseudogene pseudogene Approved Xq26.2 Xq26.2 2020-07-03 2020-11-11 392543 ENSG00000228819 NG_022637 PGOHUM00000304855 +HGNC:321 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase protein-coding gene gene with protein product Approved 1p21.2 01p21.2 GDE "glycogen debranching enzyme|glycogen storage disease type III" amylo-1, 6-glucosidase, 4-alpha-glucanotransferase Glycoside hydrolases 1650 1992-07-29 2010-04-27 2021-02-03 178 ENSG00000162688 OTTHUMG00000010803 uc001dsi.2 BC078663 NM_000028 "CCDS759|CCDS760" P35573 1505983 MGI:1924809 RGD:1306376 610860 119523 "2.4.1.25|3.2.1.33" HGNC:321 "ENST00000361915.8|NM_000642.3" HGNC:321 +HGNC:18407 AGMAT agmatinase protein-coding gene gene with protein product Approved 1p36.21 01p36.21 FLJ23384 agmatine ureohydrolase (agmatinase) 2002-03-22 2015-11-03 2016-10-05 79814 ENSG00000116771 OTTHUMG00000002357 uc001awv.3 AY057097 NM_024758 CCDS160 Q9BSE5 "11804860|14648699|11914032" MGI:1923236 RGD:1308424 617887 3.5.3.11 HGNC:18407 "ENST00000375826.4|NM_024758.5" +HGNC:33784 AGMO alkylglycerol monooxygenase protein-coding gene gene with protein product Approved 7p21.2 07p21.2 FLJ16237 TMEM195 transmembrane protein 195 Fatty acid hydroxylase domain containing 552 2007-11-20 2011-01-31 2011-01-31 2021-12-09 392636 ENSG00000187546 OTTHUMG00000152387 uc003stb.1 NM_001004320 CCDS34604 Q6ZNB7 "20643956|31555905" MGI:2442495 RGD:1312038 613738 1.14.16.5 HGNC:33784 "ENST00000342526.8|NM_001004320.2" HGNC:33784 +HGNC:3262 AGO1 argonaute RISC component 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 hAGO1 argonaute 1 EIF2C1 "eukaryotic translation initiation factor 2C, 1|argonaute RISC catalytic component 1" Argonaute RISC component family 2037 1999-12-07 2013-02-15 2019-02-01 2021-05-26 26523 ENSG00000092847 OTTHUMG00000007381 uc001bzl.5 AF093097 NM_001317122 "CCDS81300|CCDS398" Q9UL18 "10534406|12906857|16936728" MGI:2446630 RGD:1304619 606228 469930 HGNC:3262 "ENST00000373204.6|NM_012199.5" +HGNC:3263 AGO2 argonaute RISC catalytic component 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "hAGO2|Q10|LINC00980" argonaute 2 "EIF2C2|CASC7" "eukaryotic translation initiation factor 2C, 2|cancer susceptibility candidate 7 (non-protein coding)" "Endoribonucleases|RISC loading complex|Argonaute RISC component family" "1687|1776|2037" 2000-01-14 2013-02-15 2018-11-09 2019-02-01 27161 ENSG00000123908 OTTHUMG00000164232 uc003yvm.5 AF121255 NM_012154 "CCDS6380|CCDS55279" Q9UKV8 "10534406|12906857" MGI:2446632 RGD:621255 606229 469932 3.1.26.n2 HGNC:3263 "ENST00000220592.10|NM_012154.5" HGNC:3263 +HGNC:18421 AGO3 argonaute RISC catalytic component 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "hAGO3|FLJ12765" argonaute 3 EIF2C3 eukaryotic translation initiation factor 2C, 3 Argonaute RISC component family 2037 2002-04-26 2013-02-15 2018-11-09 2020-04-21 192669 ENSG00000126070 OTTHUMG00000184172 uc001bzp.4 AB046787 NM_024852 "CCDS400|CCDS399" Q9H9G7 "12906857|29040713" MGI:2446634 RGD:1309163 607355 3.1.26.n2 HGNC:18421 "ENST00000373191.9|NM_024852.4" +HGNC:18424 AGO4 argonaute RISC component 4 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "hAGO4|KIAA1567|FLJ20033" argonaute 4 EIF2C4 "eukaryotic translation initiation factor 2C, 4|argonaute RISC catalytic component 4" Argonaute RISC component family 2037 2002-04-26 2013-02-15 2019-02-01 2020-04-20 192670 ENSG00000134698 OTTHUMG00000004243 uc001bzj.3 AB046787 NM_017629 CCDS397 Q9HCK5 "12906857|25114291" MGI:1924100 RGD:1304583 607356 HGNC:18424 "ENST00000373210.4|NM_017629.4" +HGNC:324 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 LPAAT-alpha lysophosphatidic acid acyltransferase, alpha 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) "1-acylglycerol-3-phosphate O-acyltransferases|MicroRNA protein coding host genes" "46|1691" 1999-12-07 2013-02-05 2020-09-17 10554 ENSG00000204310 OTTHUMG00000031210 uc003oah.4 U56417 NM_006411 CCDS4744 Q99943 "9461603|9291118" MGI:1932075 RGD:1303287 603099 2.3.1.51 HGNC:324 "ENST00000375107.8|NM_006411.4" +HGNC:325 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 LPAAT-beta lysophosphatidic acid acyltransferase-beta BSCL "Berardinelli-Seip congenital lipodystrophy|1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)" 1-acylglycerol-3-phosphate O-acyltransferases 46 1999-12-07 2013-02-05 2021-05-26 10555 ENSG00000169692 OTTHUMG00000020936 uc004cii.2 AF000237 NM_006412 "CCDS7003|CCDS35181" O15120 "9242711|9212163" MGI:1914762 RGD:1309229 603100 119525 2.3.1.51 HGNC:325 "ENST00000371696.7|NM_006412.4" HGNC:325 +HGNC:326 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "LPAAT-gamma|LPAAT3" 1-acylglycerol-3-phosphate O-acyltransferases 46 2000-05-16 2020-09-17 56894 ENSG00000160216 OTTHUMG00000086892 uc002zdv.4 AF156774 NM_020132 CCDS13703 Q9NRZ7 20537980 MGI:1336186 RGD:1305787 614794 2.3.1.51 HGNC:326 "ENST00000291572.13|NM_020132.5" +HGNC:20885 AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 protein-coding gene gene with protein product Approved 6q26 06q26 "LPAAT-delta|dJ473J16.2" lysophosphatidic acid acyltransferase, delta 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) 1-acylglycerol-3-phosphate O-acyltransferases 46 2003-11-25 2013-02-05 2019-03-26 56895 ENSG00000026652 OTTHUMG00000015966 uc003qtr.2 AF156776 NM_020133 CCDS5280 Q9NRZ5 26417903 MGI:1915512 RGD:619916 614795 2.3.1.51 HGNC:20885 "ENST00000320285.9|NM_020133.3" +HGNC:20988 AGPAT4-IT1 AGPAT4 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6q26 06q26 FLJ23112 "C6orf59|NCRNA00241" "chromosome 6 open reading frame 59|non-protein coding RNA 241|AGPAT4 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2003-04-29 2011-08-11 2015-02-25 2020-01-21 79992 ENSG00000279355 OTTHUMG00000152859 uc003qtu.5 AK026765 NR_024277 Q9H0P7 AGPAT4-IT1 HGNC:20988 +HGNC:20886 AGPAT5 1-acylglycerol-3-phosphate O-acyltransferase 5 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "FLJ11210|LPAAT-e|LPAAT-epsilon" lysophosphatidic acid acyltransferase, epsilon 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) "1-acylglycerol-3-phosphate O-acyltransferases|MicroRNA protein coding host genes" "46|1691" 2004-12-03 2013-02-05 2021-05-26 55326 ENSG00000155189 OTTHUMG00000163656 uc003wqo.4 AF375789 NM_018361 CCDS34796 Q9NUQ2 21173190 MGI:1196345 RGD:1306405 614796 2.3.1.51 HGNC:20886 "ENST00000285518.11|NM_018361.5" HGNC:20886 +HGNC:37709 AGPAT5P1 1-acylglycerol-3-phosphate O-acyltransferase 5 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-02-03 2014-11-19 646231 ENSG00000234652 OTTHUMG00000036179 NG_028688 PGOHUM00000233891 HGNC:37709 +HGNC:327 AGPS alkylglycerone phosphate synthase protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "ADHAPS|ADAS|ALDHPSY|ADPS|ADAP-S" 1998-10-14 2020-09-17 8540 ENSG00000018510 OTTHUMG00000132530 uc002ull.3 Y09443 NM_003659 CCDS2275 O00116 "9187299|9553082" MGI:2443065 RGD:620364 603051 119528 2.5.1.26 HGNC:327 "ENST00000264167.11|NM_003659.4" HGNC:327 +HGNC:328 AGR2 anterior gradient 2, protein disulphide isomerase family member protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "XAG-2|HAG-2|AG2|PDIA17" protein disulfide isomerase family A, member 17 anterior gradient 2 homolog (Xenopus laevis) Protein disulfide isomerases 692 2000-03-06 2015-07-02 2020-09-17 10551 ENSG00000106541 OTTHUMG00000023446 uc003str.4 AF038451 NM_006408 CCDS5364 O95994 9790916 MGI:1344405 RGD:1304606 606358 HGNC:328 "ENST00000419304.7|NM_006408.4" +HGNC:24167 AGR3 anterior gradient 3, protein disulphide isomerase family member protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "HAG3|hAG-3|BCMP11|PDIA18" "breast cancer membrane protein 11|protein disulfide isomerase family A, member 18" anterior gradient 3 homolog (Xenopus laevis) Protein disulfide isomerases 692 2007-02-05 2015-07-02 2019-02-18 155465 ENSG00000173467 OTTHUMG00000128411 uc003sts.4 AY069977 NM_176813 CCDS5365 Q8TD06 12592373 MGI:2685734 RGD:1565406 609482 HGNC:24167 "ENST00000310398.7|NM_176813.5" +HGNC:329 AGRN agrin protein-coding gene gene with protein product Approved 1p36.33 01p36.33 AGRIN agrin proteoglycan Proteoglycans 570 1992-02-14 2007-02-16 2021-05-26 375790 ENSG00000188157 OTTHUMG00000040778 uc001ack.3 NM_198576 CCDS30551 O00468 "1851019|12270958" MGI:87961 RGD:2067 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=AGRN|LRG_198|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_198.xml" 103320 233062 ligandId:5319 HGNC:329 "ENST00000379370.7|NM_198576.4" HGNC:329 +HGNC:330 AGRP agouti related neuropeptide protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "Agrt|ART|ASIP2" "agouti (mouse) related protein|agouti related protein homolog (mouse)" Neuropeptides 1902 1998-06-22 2014-07-15 2020-09-17 181 ENSG00000159723 OTTHUMG00000137509 uc002etg.1 U88063 NM_001138 CCDS10839 O00253 "9119224|9311920" MGI:892013 RGD:2068 602311 ligandId:1335 HGNC:330 "ENST00000290953.3|NM_001138.2" +HGNC:333 AGT angiotensinogen protein-coding gene gene with protein product Approved 1q42.2 01q42.2 alpha-1 antiproteinase, antitrypsin SERPINA8 serpin peptidase inhibitor, clade A, member 8 "Serpin peptidase inhibitors|Neuropeptides" "739|1902" 1989-06-30 2001-06-29 2016-01-12 2021-05-26 183 ENSG00000135744 OTTHUMG00000037757 uc001hty.6 K02215 NM_000029 CCDS1585 P01019 "6089875|24172014" MGI:87963 RGD:2069 106150 119535 I04.953 ligandId:583 HGNC:333 "ENST00000366667.6|NM_001384479.1" HGNC:333 +HGNC:17258 AGTPBP1 ATP/GTP binding carboxypeptidase 1 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "KIAA1035|Nna1|CCP1" "cytosolic carboxypeptidase 1|tubulinyl-Tyr carboxypeptidase|carboxypeptidase-tubulin|tyrosine carboxypeptidase|soluble carboxypeptidase" ATP/GTP binding protein 1 "M14 carboxypeptidases|Armadillo like helical domain containing" "1321|1492" 2002-03-27 2021-02-04 2021-05-26 23287 ENSG00000135049 OTTHUMG00000020124 uc010mqc.4 AB028958 NM_015239 "CCDS6672|CCDS69615|CCDS75854|CCDS83382" Q9UPW5 11083920 MGI:2159437 RGD:1306307 606830 M14.028 HGNC:17258 "ENST00000357081.8|NM_001330701.2" HGNC:17258 +HGNC:336 AGTR1 angiotensin II receptor type 1 protein-coding gene gene with protein product Approved 3q24 03q24 "AT1|AT2R1|AGTR1A|AT2R1A|HAT1R|AG2S|AT2R1B|AT1B" AGTR1B angiotensin receptor 1B Angiotensin receptors 221 1992-08-25 2016-01-12 2021-05-26 185 ENSG00000144891 OTTHUMG00000159503 uc003ewj.4 M87290 NM_000685 CCDS3137 P30556 1550596 MGI:87965 RGD:2070 106165 138533 objectId:34 HGNC:336 "ENST00000349243.8|NM_000685.5" HGNC:336 +HGNC:338 AGTR2 angiotensin II receptor type 2 protein-coding gene gene with protein product Approved Xq23 Xq23 "AT2|MRX88" angiotensin receptor 2 Angiotensin receptors 221 1992-08-25 2016-01-12 2021-05-26 186 ENSG00000180772 OTTHUMG00000022243 uc004eqh.5 AY324607 NM_000686 CCDS14569 P50052 1550596 MGI:87966 RGD:2072 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AGTR2 300034 159921 objectId:35 HGNC:338 "ENST00000371906.5|NM_000686.5" HGNC:338 +HGNC:13539 AGTRAP angiotensin II receptor associated protein protein-coding gene gene with protein product Approved 1p36.22 01p36.22 ATRAP 2002-09-12 2016-01-12 2018-02-19 57085 ENSG00000177674 OTTHUMG00000002230 uc001asv.4 AF165187 NM_020350 "CCDS41248|CCDS30586|CCDS136|CCDS30585|CCDS44056" Q6RW13 11733189 MGI:1339977 RGD:1359346 608729 HGNC:13539 "ENST00000314340.10|NM_020350.5" +HGNC:341 AGXT alanine--glyoxylate and serine--pyruvate aminotransferase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "AGXT1|PH1|AGT|SPT|AGT1|TLH6|Ser-PyrAT" "oxalosis I|primary hyperoxaluria type 1|L-alanine: glyoxylate aminotransferase 1|glycolicaciduria" SPAT "serine:pyruvate aminotransferase|alanine-glyoxylate aminotransferase" 1990-11-20 2018-03-15 2022-04-05 189 ENSG00000172482 OTTHUMG00000133354 uc002waa.5 D13368 NM_000030 CCDS2543 P21549 "2039493|2045108|2253628" MGI:1329033 RGD:2073 604285 119538 "2.6.1.44|2.6.1.51" HGNC:341 "ENST00000307503.4|NM_000030.3" HGNC:341 +HGNC:14412 AGXT2 alanine--glyoxylate aminotransferase 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 AGT2 "beta-alanine-pyruvate aminotransferase|beta-ALAAT II" alanine-glyoxylate aminotransferase 2 2001-01-22 2010-05-07 2022-02-23 64902 ENSG00000113492 OTTHUMG00000090788 uc003jjf.4 AJ292204 NM_031900 "CCDS3908|CCDS78000" Q9BYV1 15240345 MGI:2146052 RGD:621767 612471 "2.6.1.44|2.6.1.40" HGNC:14412 "ENST00000231420.11|NM_031900.4" +HGNC:24618 AHCTF1 AT-hook containing transcription factor 1 protein-coding gene gene with protein product Approved 1q44 01q44 ELYS ELYS transcription factor like protein TMBS62 AT hook containing transcription factor 1 Nucleoporins 1051 2005-06-20 2015-11-23 2019-03-13 25909 ENSG00000153207 OTTHUMG00000040706 uc001ibv.3 NM_015446 CCDS1629 Q8WYP5 "11952839|17098863" MGI:1915033 RGD:1561291 610853 HGNC:24618 "ENST00000648844.2|NM_001323342.2" +HGNC:24620 AHCTF1P1 AT-hook containing transcription factor 1 pseudogene 1 pseudogene pseudogene Approved 2q24.2 02q24.2 ELYS-like AHCTF1P "AT hook containing transcription factor 1 pseudogene|AT hook containing transcription factor 1 pseudogene 1" 2005-06-20 2010-01-12 2015-11-23 2020-04-20 285116 ENSG00000226121 NG_002622 HGNC:24620 +HGNC:343 AHCY adenosylhomocysteinase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 SAHH S-adenosylhomocysteine hydrolase 1986-01-01 2009-06-12 2021-05-26 191 ENSG00000101444 OTTHUMG00000140098 uc002xai.4 M61832 NM_000687 "CCDS13233|CCDS54457" P23526 "7079734|6580258" MGI:87968 RGD:69260 180960 119546 objectId:1233 3.3.1.1 HGNC:343 "ENST00000217426.7|NM_000687.4" HGNC:343 +HGNC:344 AHCYL1 adenosylhomocysteinase like 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "XPVKONA|IRBIT|PPP1R78" "inositol 1,4,5-trisphosphate receptor-binding protein|protein phosphatase 1, regulatory subunit 78" "S-adenosylhomocysteine hydrolase-like 1|adenosylhomocysteinase-like 1" Protein phosphatase 1 regulatory subunits 694 1999-07-23 2015-11-11 2020-09-17 10768 ENSG00000168710 OTTHUMG00000011652 uc001dyx.4 U82761 NM_001242673 "CCDS818|CCDS55620" O43865 "11904675|16754674|12525476" MGI:2385184 RGD:1309768 607826 HGNC:344 "ENST00000369799.10|NM_006621.7" +HGNC:22204 AHCYL2 adenosylhomocysteinase like 2 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "KIAA0828|long-IRBIT|IRBIT2" S-adenosylhomocysteine hydrolase-like 2 2008-01-17 2016-01-14 2019-03-26 23382 ENSG00000158467 OTTHUMG00000157677 uc011kov.3 AB020635 NM_001130720 "CCDS5812|CCDS47708|CCDS47706|CCDS47707" Q96HN2 24472682 MGI:1921590 RGD:1564895 616520 HGNC:22204 "ENST00000325006.8|NM_015328.4" +HGNC:44993 AHCYP1 adenosylhomocysteinase pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 2013-01-04 2015-08-24 340844 NG_022175 PGOHUM00000290141 HGNC:44993 +HGNC:44994 AHCYP2 adenosylhomocysteinase pseudogene 2 pseudogene pseudogene Approved 9q33.2 09q33.2 2013-01-04 2013-01-04 392387 ENSG00000238181 OTTHUMG00000020571 NG_021677 PGOHUM00000236763 HGNC:44994 +HGNC:44995 AHCYP3 adenosylhomocysteinase pseudogene 3 pseudogene pseudogene Approved 2q12.1 02q12.1 2013-01-04 2013-01-04 402093 ENSG00000233955 OTTHUMG00000153048 NG_021515 PGOHUM00000240232 HGNC:44995 +HGNC:44996 AHCYP4 adenosylhomocysteinase pseudogene 4 pseudogene pseudogene Approved 2q22.1 02q22.1 2013-01-04 2013-01-04 129560 ENSG00000232992 OTTHUMG00000153632 NG_021526 PGOHUM00000240360 HGNC:44996 +HGNC:44997 AHCYP5 adenosylhomocysteinase pseudogene 5 pseudogene pseudogene Approved 2q32.3 02q32.3 2013-01-04 2013-01-04 391470 ENSG00000213107 OTTHUMG00000154377 NG_021544 PGOHUM00000240468 HGNC:44997 +HGNC:44998 AHCYP6 adenosylhomocysteinase pseudogene 6 pseudogene pseudogene Approved 11q14.1 11q14.1 2013-01-04 2013-01-04 100419714 NG_024541 PGOHUM00000242830 HGNC:44998 +HGNC:44999 AHCYP7 adenosylhomocysteinase pseudogene 7 pseudogene pseudogene Approved 15q21.2 15q21.2 2013-01-04 2014-07-15 645486 ENSG00000259465 OTTHUMG00000172446 NG_022129 PGOHUM00000293238 HGNC:44999 +HGNC:45000 AHCYP8 adenosylhomocysteinase pseudogene 8 pseudogene pseudogene Approved 1q44 01q44 2013-01-04 2013-01-04 107063538 ENSG00000242529 OTTHUMG00000040381 NG_046356 PGOHUM00000244547 HGNC:45000 +HGNC:25230 AHDC1 AT-hook DNA binding motif containing 1 protein-coding gene gene with protein product Approved 1p36.11-p35.3 01p36.11-p35.3 "DJ159A19.3|RP1-159A19.1" AT hook, DNA binding motif, containing 1 2005-07-21 2015-11-23 2021-05-26 27245 ENSG00000126705 OTTHUMG00000003398 uc057dvu.1 AK125431 NM_001029882 CCDS30652 Q5TGY3 "8619474|9110174" MGI:2444218 RGD:1310031 615790 423013 HGNC:25230 "ENST00000673934.1|NM_001371928.1" HGNC:25230 +HGNC:21575 AHI1 Abelson helper integration site 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "FLJ20069|ORF1|JBTS3" Jouberin Abelson helper integration site WD repeat domain containing 362 2003-08-22 2005-11-29 2021-05-26 54806 ENSG00000135541 OTTHUMG00000015631 uc003qgj.4 AJ459824 NM_017651 "CCDS47483|CCDS47484" Q8N157 "15060101|16240161" MGI:87971 RGD:1303040 608894 119549 HGNC:21575 "ENST00000265602.11|NM_001134831.2" HGNC:21575 +HGNC:32526 AHI1-DT AHI1 divergent transcript non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 "C6orf217|NCRNA00271|LINC00271" "chromosome 6 open reading frame 217|non-protein coding RNA 271|long intergenic non-protein coding RNA 271" Divergent transcripts 1990 2006-02-20 2021-07-22 2021-07-22 2021-07-22 100131814 ENSG00000231028 OTTHUMG00000015632 uc063rrh.1 NR_026805 P0C7V0 LINC00271 HGNC:32526 +HGNC:347 AHNAK AHNAK nucleoprotein protein-coding gene gene with protein product Approved 11q12.3 11q12.3 MGC5395 desmoyokin AHNAK nucleoprotein (desmoyokin) PDZ domain containing 1220 1994-12-12 2007-03-30 2020-09-17 79026 ENSG00000124942 OTTHUMG00000167558 uc001ntl.4 M80899 NM_024060 "CCDS31584|CCDS44625" Q09666 "7987395|12153988" MGI:1316648 RGD:619779 103390 469934 HGNC:347 "ENST00000378024.9|NM_001620.3" +HGNC:20125 AHNAK2 AHNAK nucleoprotein 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 C14orf78 chromosome 14 open reading frame 78 PDZ domain containing 1220 2003-01-13 2007-03-26 2007-03-26 2015-08-28 113146 ENSG00000185567 OTTHUMG00000170765 uc010axc.2 AB095939 NM_138420 CCDS45177 Q8IVF2 15007166 MGI:2144831 RGD:1309696 608570 HGNC:20125 "ENST00000333244.6|NM_138420.4" HGNC:20125 +HGNC:348 AHR aryl hydrocarbon receptor protein-coding gene gene with protein product Approved 7p21.1 07p21.1 bHLHe76 "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1993-05-18 2020-09-17 196 ENSG00000106546 OTTHUMG00000149967 uc011jxz.2 L19872 NM_001621 CCDS5366 P35869 8125016 MGI:105043 RGD:2074 600253 objectId:2951 HGNC:348 "ENST00000242057.9|NM_001621.5" HGNC:348 +HGNC:346 AHRR aryl hydrocarbon receptor repressor protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "KIAA1234|bHLHe77" AHR repressor "AHH|AHHR" "aryl hydrocarbon receptor regulator|aryl-hydrocarbon receptor repressor" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1986-01-01 2003-09-12 2022-03-31 2022-04-04 57491 ENSG00000063438 OTTHUMG00000162171 uc003jav.4 AB033060 NM_020731 "CCDS43297|CCDS56355" A9YTQ3 "1070014|11423533" MGI:1333776 RGD:1559857 606517 HGNC:346 "ENST00000684583.1|NM_001377236.1" +HGNC:1189 AHSA1 activator of HSP90 ATPase activity 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "p38|Aha1|hAha1" C14orf3 "chromosome 14 open reading frame 3|AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)" 1999-07-01 2003-04-11 2016-11-23 2020-09-17 10598 ENSG00000100591 OTTHUMG00000171539 uc001xtw.4 AJ243310 NM_012111 CCDS9863 O95433 26796264 MGI:2387603 RGD:1589285 608466 HGNC:1189 "ENST00000216479.8|NM_012111.3" +HGNC:20437 AHSA2P activator of HSP90 ATPase homolog 2, pseudogene pseudogene pseudogene Approved 2p15 02p15 "DKFZp564C236|Hch1|AHA1" AHSA2 "AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)|activator of HSP90 ATPase homolog 2" 2003-04-04 2017-11-03 2017-11-03 2018-06-26 130872 ENSG00000173209 OTTHUMG00000129437 uc002sbc.3 AK092817 NR_152210 Q719I0 12504007 MGI:1916133 RGD:1307171 HGNC:20437 +HGNC:349 AHSG alpha 2-HS glycoprotein protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "FETUA|A2HS|HSGA" fetuin A Cystatins, type 4 968 1986-01-01 2016-05-23 2020-09-17 197 ENSG00000145192 OTTHUMG00000156605 uc003fqk.5 "D67013|M16961" NM_001622 "CCDS3278|CCDS87176" P02765 "9322749|7736783" MGI:107189 RGD:2075 138680 LI25-004 HGNC:349 "ENST00000411641.7|NM_001622.4" +HGNC:18075 AHSP alpha hemoglobin stabilizing protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 EDRF alpha hemoglobin stabilising protein ERAF erythroid associated factor 2002-02-13 2009-10-07 2009-10-07 2021-05-26 51327 ENSG00000169877 OTTHUMG00000132461 uc002ecj.4 AF208865 NM_016633 CCDS10716 Q9NZD4 "11231637|12066189" MGI:2158492 RGD:1306725 LRG_1073|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1073.xml 605821 HGNC:18075 "ENST00000302312.9|NM_016633.4" +HGNC:13203 AICDA activation induced cytidine deaminase protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HIGM2|CDA2|ARP2|AID" activation-induced cytidine deaminase Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2000-09-19 2016-07-04 2021-05-26 57379 ENSG00000111732 OTTHUMG00000168676 uc001qur.3 AB040430 NM_020661 "CCDS41747|CCDS81662" Q9GZX7 29335468 MGI:1342279 RGD:1303222 "AICDA base: Mutation registry for Aid deficiency|http://structure.bmc.lu.se/idbase/AICDAbase/|LRG_17|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_17.xml" 605257 119554 HGNC:13203 "ENST00000229335.11|NM_020661.4" HGNC:13203 +HGNC:25761 AIDA axin interactor, dorsalization associated protein-coding gene gene with protein product Approved 1q41 01q41 FLJ12806 axin interaction partner and dorsalization antagonist C1orf80 chromosome 1 open reading frame 80 C2 domain containing 823 2005-05-24 2008-05-22 2008-05-22 2014-11-19 64853 ENSG00000186063 OTTHUMG00000037653 uc001hnn.4 BC043142 NM_022831 CCDS1533 Q96BJ3 "8619474|9110174|17681137" MGI:1919737 RGD:1592746 612375 HGNC:25761 "ENST00000340020.11|NM_022831.4" +HGNC:54663 AIDAP1 AIDA pseudogene 1 pseudogene pseudogene Approved 2p25.1 02p25.1 2019-11-21 2020-01-21 646050 ENSG00000230154 NG_021555 +HGNC:54664 AIDAP2 AIDA pseudogene 2 pseudogene pseudogene Approved 4q32.1 04q32.1 2019-11-21 2020-01-21 646890 ENSG00000251429 NG_030225 +HGNC:54665 AIDAP3 AIDA pseudogene 3 pseudogene pseudogene Approved 18p11.32 18p11.32 2019-11-21 2020-01-21 100128360 ENSG00000264189 NG_030062 +HGNC:352 AIF1 allograft inflammatory factor 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "IRT-1|AIF-1|Em:AF129756.17|IBA1" "interferon gamma responsive transcript|ionized calcium-binding adapter molecule 1" EF-hand domain containing 863 1997-07-01 2020-09-17 199 ENSG00000204472 OTTHUMG00000031246 uc003nuy.4 U19713 NM_001318970 "CCDS34398|CCDS4706" P55008 8912632 MGI:1343098 RGD:61924 601833 HGNC:352 "ENST00000376059.8|NM_001623.5" +HGNC:28904 AIF1L allograft inflammatory factor 1 like protein-coding gene gene with protein product Approved 9q34.12-q34.13 09q34.12-q34.13 "IBA2|FLJ12783" C9orf58 "chromosome 9 open reading frame 58|allograft inflammatory factor 1-like" EF-hand domain containing 863 2004-01-06 2008-10-21 2016-03-15 2018-05-03 83543 ENSG00000126878 OTTHUMG00000020817 uc004cad.2 AL136566 NM_031426 "CCDS55348|CCDS55349|CCDS6939" Q9BQI0 11230166 MGI:1919598 RGD:1305081 HGNC:28904 "ENST00000247291.8|NM_031426.4" +HGNC:8768 AIFM1 apoptosis inducing factor mitochondria associated 1 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "AIF|CMTX4|DFNX5" "PDCD8|NAMSD|AUNX1" "programmed cell death 8 (apoptosis-inducing factor)|neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)|apoptosis-inducing factor, mitochondrion-associated, 1|apoptosis inducing factor, mitochondria associated 1|auditory neuropathy, X-linked recessive 1" 1999-05-28 2006-11-16 2017-01-12 2020-04-02 9131 ENSG00000156709 OTTHUMG00000022392 uc004evg.4 AF100928 NM_001130846 "CCDS14618|CCDS48166|CCDS48167|CCDS14619" O95831 "9989411|23217327|25986071" MGI:1349419 RGD:620817 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AIFM1 300169 244686 1.1.1.- HGNC:8768 "ENST00000287295.8|NM_004208.4" HGNC:8768 +HGNC:44884 AIFM1P1 AIFM1 pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p12.31 "apoptosis-inducing factor, mitochondrion-associated, 1 pseudogene 1|apoptosis inducing factor, mitochondria associated 1 pseudogene 1" 2012-12-11 2019-01-18 2019-01-18 645120 ENSG00000225509 OTTHUMG00000017768 NG_021350 PGOHUM00000238680 HGNC:44884 +HGNC:21411 AIFM2 apoptosis inducing factor mitochondria associated 2 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "FLJ14497|PRG3|FSP1" ferroptosis suppressor 1 AMID "apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death|apoptosis-inducing factor, mitochondrion-associated, 2" 2004-04-20 2006-11-16 2019-01-18 2022-01-17 84883 ENSG00000042286 OTTHUMG00000018398 uc010qjg.3 AK027403 NM_032797 CCDS7297 Q9BRQ8 "12135761|11980907|15958387|31634899" MGI:1918611 RGD:1304964 605159 HGNC:21411 "ENST00000307864.3|NM_032797.6" +HGNC:26398 AIFM3 apoptosis inducing factor mitochondria associated 3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "AIFL|FLJ30473" apoptosis-inducing factor, mitochondrion-associated, 3 2006-11-16 2019-01-18 2019-01-18 150209 ENSG00000183773 OTTHUMG00000150804 uc002ztj.3 AK094844 NM_144704 "CCDS33605|CCDS13786|CCDS54503" Q96NN9 15764604 MGI:1919418 RGD:1306028 617298 HGNC:26398 "ENST00000440238.4|NM_001386814.1" +HGNC:21607 AIG1 androgen induced 1 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "dJ95L4.1|AIG-1|FLJ10485" 2003-06-26 2016-07-01 2016-10-05 51390 ENSG00000146416 OTTHUMG00000015721 uc003qjh.5 AF153605 NM_016108 "CCDS87450|CCDS69215|CCDS5198|CCDS69216" Q9NVV5 11266118 MGI:1913503 RGD:1562920 608514 HGNC:21607 "ENST00000357847.9|NM_016108.4" +HGNC:43926 AIG1P1 androgen induced 1 pseudogene 1 pseudogene pseudogene Approved 5p13.1 05p13.1 2012-05-04 2016-07-01 2016-07-01 106479028 ENSG00000249089 OTTHUMG00000162194 NG_044322 PGOHUM00000235567 HGNC:43926 +HGNC:357 AIM2 absent in melanoma 2 protein-coding gene gene with protein product Approved 1q23.1-q23.2 01q23.1-q23.2 PYHIN4 "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 1999-04-22 2020-09-17 9447 ENSG00000163568 OTTHUMG00000037183 uc001ftj.2 AF024714 NM_004833 CCDS1181 O14862 "9242382|25665578" MGI:2686159 RGD:1307283 604578 objectId:2923 HGNC:357 "ENST00000368130.9|NM_004833.3" +HGNC:10648 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 protein-coding gene gene with protein product Approved 4q24 04q24 "EMAPII|EMAP-2|p43" "EMAP II|ARS-interacting multifunctional protein 1|multisynthetase complex auxiliary component p43" SCYE1 small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) Aminoacyl tRNA synthetase complex interacting multifunctional proteins 2116 2000-04-13 2009-05-20 2016-05-10 2021-11-05 9255 ENSG00000164022 OTTHUMG00000131217 uc011cfg.3 U10117 NM_004757 CCDS3674 Q12904 "7929199|7545917" MGI:102774 RGD:620466 603605 258625 HGNC:10648 "ENST00000672341.1|NM_001142416.2" HGNC:10648 +HGNC:16543 AIMP1P1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 pseudogene 1 pseudogene pseudogene Approved 20p12.1 20p12.1 bA400P21.1 SCYE1P small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) pseudogene 2001-09-17 2012-01-31 2016-05-10 2016-05-10 170547 ENSG00000234187 OTTHUMG00000031913 AL136992 NG_054905 PGOHUM00000247596 HGNC:16543 +HGNC:43693 AIMP1P2 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 pseudogene 2 pseudogene pseudogene Approved 1q24.3 01q24.3 2012-01-31 2016-05-10 2016-05-10 100873064 ENSG00000227177 OTTHUMG00000034833 NG_032149 PGOHUM00000244338 HGNC:43693 +HGNC:20609 AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "p38|PRO0992|JTV-1|JTV1" multisynthetase complex auxiliary component p38 "Small nucleolar RNA protein coding host genes|Aminoacyl tRNA synthetase complex interacting multifunctional proteins" "1835|2116" 2009-05-20 2016-05-10 2021-11-05 7965 ENSG00000106305 OTTHUMG00000122077 uc003spo.4 U24169 NM_006303 "CCDS87476|CCDS87475|CCDS5344" Q13155 "8666379|18695251" MGI:2385237 RGD:1560787 600859 HGNC:20609 "ENST00000223029.8|NM_006303.4" HGNC:20609 +HGNC:358 AIP aryl hydrocarbon receptor interacting protein protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "XAP2|ARA9|FKBP16|FKBP37" "hepatitis B virus X-associated cellular protein 2|aryl hydrocarbon receptor-associated protein 9|FKBP prolyl isomerase 16|X-associated protein-2|FK506-binding protein 37|Ah receptor activated 9" aryl hydrocarbon receptor-interacting protein "FKBP prolyl isomerases|MicroRNA protein coding host genes" "910|1691" 1999-01-22 2001-11-29 2021-04-13 9049 ENSG00000110711 OTTHUMG00000167674 uc001olv.4 U31913 NM_001302959 CCDS8168 O00170 "8972861|9111057" MGI:109622 RGD:628619 LRG_460|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_460.xml 605555 200951 HGNC:358 "ENST00000279146.8|NM_003977.4" HGNC:358 +HGNC:359 AIPL1 aryl hydrocarbon receptor interacting protein like 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 LCA4 "aryl hydrocarbon receptor-interacting protein-like 1|aryl hydrocarbon receptor interacting protein-like 1" FKBP prolyl isomerases 910 1999-03-18 2016-03-22 2020-09-17 23746 ENSG00000129221 OTTHUMG00000102043 uc002gcp.5 AF148864 NM_014336 "CCDS11075|CCDS67133|CCDS32540|CCDS67130|CCDS67131|CCDS67132|CCDS32539" Q9NZN9 "10615133|14555765|15365173" MGI:2148800 RGD:70906 Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1|http://www.retina-international.org/files/sci-news/aipl1mut.htm 604392 119559 HGNC:359 "ENST00000381129.8|NM_014336.5" HGNC:359 +HGNC:360 AIRE autoimmune regulator protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "PGA1|APS1" autoimmune polyendocrinopathy candidiasis ectodermal dystrophy APECED autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) PHD finger proteins 88 1997-09-05 2007-06-20 2021-05-26 326 ENSG00000160224 OTTHUMG00000086921 uc002zei.4 AB006684 NM_000383 CCDS13706 O43918 9398840 MGI:1338803 RGD:1311139 "AIREbase: Mutation registry for APECED|http://structure.bmc.lu.se/idbase/AIREbase/|LRG_18|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_18.xml" 607358 119562 HGNC:360 "ENST00000291582.6|NM_000383.4" HGNC:360 +HGNC:34515 AIRN antisense of IGF2R non-protein coding RNA non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 "AIR|NCRNA00088|IGF2RAS|IGF2R-AS1" "non-protein coding RNA 88|IGF2R antisense RNA 1 (non-protein coding)" antisense of IGF2R RNA (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2008-11-25 2012-08-16 2018-08-15 100271873 ENSG00000268257 OTTHUMG00000183173 uc031sqx.1 NR_047511 "18789384|19008856" MGI:1353471 604893 Air AIRN HGNC:34515 +HGNC:30801 AJAP1 adherens junctions associated protein 1 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "SHREW1|SHREW-1|MOT8" transmembrane protein SHREW1 2005-07-11 2008-01-08 2014-11-19 55966 ENSG00000196581 OTTHUMG00000000645 uc001alo.5 AF175409 NM_018836 CCDS54 Q9UKB5 14595118 MGI:2685419 RGD:1590138 610972 HGNC:30801 "ENST00000378191.5|NM_018836.4" +HGNC:37284 AJM1 apical junction component 1 homolog protein-coding gene gene with protein product Approved 9q34.3 09q34.3 ajm-1 C9orf172 chromosome 9 open reading frame 172 2009-09-11 2017-10-06 2017-10-06 2017-10-06 389813 ENSG00000232434 OTTHUMG00000187258 uc011meh.3 NM_001080482 CCDS48059 C9J069 MGI:2685842 RGD:1560470 HGNC:37284 "ENST00000436881.3|NM_001080482.5" +HGNC:20250 AJUBA ajuba LIM protein protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MGC15563 JUB jub, ajuba homolog (Xenopus laevis) Ajuba family 1403 2003-01-14 2011-11-10 2011-11-10 2014-11-19 84962 ENSG00000129474 OTTHUMG00000028711 uc001whz.4 AK025567 NM_001289097 "CCDS9581|CCDS9582" Q96IF1 10330178 MGI:1341886 RGD:620407 609066 HGNC:20250 "ENST00000262713.7|NM_032876.6" +HGNC:55449 AJUBA-DT AJUBA divergent transcript non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Divergent transcripts 1990 2021-01-15 2021-01-15 107984660 ENSG00000258457 XR_007064074 +HGNC:361 AK1 adenylate kinase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "Adenylate kinases|MicroRNA protein coding host genes" "356|1691" 1986-01-01 2021-05-26 203 ENSG00000106992 OTTHUMG00000020722 uc004bsm.4 J04809 NM_000476 "CCDS6881|CCDS83419" P00568 2542324 MGI:87977 RGD:2076 LRG_1187|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1187.xml 103000 119567 2.7.4.3 HGNC:361 "ENST00000644144.2|NM_000476.3" HGNC:361 +HGNC:362 AK2 adenylate kinase 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 Adenylate kinases 356 1986-01-01 2021-05-26 204 ENSG00000004455 OTTHUMG00000004131 uc001bwp.3 U84371 NM_001625 "CCDS81296|CCDS81295|CCDS81294|CCDS373|CCDS374" P54819 "8843353|6961883" MGI:87978 RGD:2077 LRG_133|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_133.xml 103020 173523 2.7.4.3 HGNC:362 "ENST00000672715.1|NM_001625.4" HGNC:362 +HGNC:24037 AK2P1 adenylate kinase 2 pseudogene 1 pseudogene pseudogene Approved 1p32.1 01p32.1 AK2B 2007-07-25 2007-07-25 266920 AF056332 NG_002393 10092943 HGNC:24037 +HGNC:33542 AK2P2 adenylate kinase 2 pseudogene 2 pseudogene pseudogene Approved 2p22.3 02p22.3 2007-07-25 2016-10-05 339736 ENSG00000242272 OTTHUMG00000152054 NG_009660 PGOHUM00000240008 HGNC:33542 +HGNC:17376 AK3 adenylate kinase 3 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 AKL3L1 "AK6|AK3L1" "adenylate kinase 6|adenylate kinase 3 like 1" Adenylate kinases 356 2002-12-17 2005-04-07 2004-06-11 2014-11-19 50808 ENSG00000147853 OTTHUMG00000019472 uc003ziq.4 BC013771 NM_016282 "CCDS6455|CCDS56562|CCDS56561" Q9UIJ7 "8288|182062" MGI:1860835 RGD:619885 609290 HGNC:17376 "ENST00000381809.8|NM_016282.4" +HGNC:31099 AK3P2 adenylate kinase 3 pseudogene 2 pseudogene pseudogene Approved 8q24.3 08q24.3 HsT26053 2005-10-06 2020-04-20 100419074 ENSG00000250115 OTTHUMG00000160500 NG_026075 PGOHUM00000249519 HGNC:31099 +HGNC:39062 AK3P3 adenylate kinase 3 pseudogene 3 pseudogene pseudogene Approved 7p15.3 07p15.3 2010-09-29 2014-11-19 100419075 ENSG00000230042 OTTHUMG00000152600 NG_026542 PGOHUM00000233148 HGNC:39062 +HGNC:39063 AK3P4 adenylate kinase 3 pseudogene 4 pseudogene pseudogene Approved 5q22.3 05q22.3 2010-09-29 2014-11-19 100129959 ENSG00000248722 OTTHUMG00000162914 NG_028719 PGOHUM00000235732 HGNC:39063 +HGNC:39064 AK3P5 adenylate kinase 3 pseudogene 5 pseudogene pseudogene Approved 10p11.22 10p11.22 2010-09-30 2014-11-19 100288319 ENSG00000228816 OTTHUMG00000017931 NG_022166 PGOHUM00000238717 HGNC:39064 +HGNC:39065 AK3P6 adenylate kinase 3 pseudogene 6 pseudogene pseudogene Approved 12q24.33 12q24.33 2010-09-30 2014-11-18 100873789 NG_032224 PGOHUM00000239611 HGNC:39065 +HGNC:363 AK4 adenylate kinase 4 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "AK3|AK3L1" "adenylate kinase 3|adenylate kinase 3-like 1" Adenylate kinases 356 2001-06-22 2010-06-15 2010-06-15 2020-09-17 205 ENSG00000162433 OTTHUMG00000009033 uc001dby.3 AK025926 NM_013410 "CCDS81340|CCDS629" P27144 11485571 MGI:87979 RGD:2078 103030 2.7.4.3 HGNC:363 "ENST00000327299.8|NM_013410.4" +HGNC:364 AK4P1 adenylate kinase 4 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 AK3P1 adenylate kinase 3 pseudogene 1 1992-06-24 2010-09-30 2010-09-30 2017-10-25 206 ENSG00000263535 OTTHUMG00000179256 X60674 NG_001070 1639383 HGNC:364 +HGNC:39066 AK4P2 adenylate kinase 4 pseudogene 2 pseudogene pseudogene Approved 5q11.2 05q11.2 2010-09-30 2014-11-19 100132104 ENSG00000249410 OTTHUMG00000162238 NG_021849 PGOHUM00000235224 HGNC:39066 +HGNC:21596 AK4P3 adenylate kinase 4 pseudogene 3 pseudogene pseudogene Approved 12p11.21 12p11.21 AK3L2P AK3L2 "adenylate kinase 3-like 2|adenylate kinase 3-like 2 (pseudogene)" 2004-03-11 2010-09-30 2010-09-30 2020-04-20 645619 ENSG00000233381 OTTHUMG00000169084 NG_007564 HGNC:21596 +HGNC:39067 AK4P4 adenylate kinase 4 pseudogene 4 pseudogene pseudogene Approved 9p24.1 09p24.1 2010-09-30 2010-09-30 100128705 ENSG00000223621 OTTHUMG00000019509 NG_021605 PGOHUM00000235956 HGNC:39067 +HGNC:39068 AK4P5 adenylate kinase 4 pseudogene 5 pseudogene pseudogene Approved 6q14.1 06q14.1 2010-09-30 2014-11-19 100526416 ENSG00000217377 OTTHUMG00000015090 NG_027847 PGOHUM00000261423 HGNC:39068 +HGNC:39069 AK4P6 adenylate kinase 4 pseudogene 6 pseudogene pseudogene Approved 4q31.3 04q31.3 2010-09-30 2010-09-30 649288 ENSG00000235606 OTTHUMG00000161449 NG_022085 PGOHUM00000246100 HGNC:39069 +HGNC:365 AK5 adenylate kinase 5 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 Adenylate kinases 356 1999-11-19 2020-09-17 26289 ENSG00000154027 OTTHUMG00000009796 uc001dhn.4 AF062595 NM_174858 "CCDS676|CCDS675" Q9Y6K8 10215863 MGI:2677491 RGD:1590818 608009 HGNC:365 "ENST00000354567.7|NM_174858.3" +HGNC:49151 AK6 adenylate kinase 6 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 CINAP coilin interacting nuclear ATPase protein "Adenylate kinases|Ribosomal biogenesis factors" "356|1729" 2013-09-19 2019-02-25 102157402 ENSG00000085231 OTTHUMG00000187252 NM_016283 "CCDS4001|CCDS43324" Q9Y3D8 "16079131|27477389" MGI:5510732 RGD:7387335 619357 2.7.4.3 HGNC:49151 "ENST00000380822.9|NM_016283.5" +HGNC:51678 AK6P1 adenylate kinase 6 pseudogene 1 pseudogene pseudogene Approved 12p11.1 12p11.1 2015-05-06 2015-05-06 100132086 ENSG00000256614 OTTHUMG00000169291 PGOHUM00000291621 HGNC:51678 +HGNC:51679 AK6P2 adenylate kinase 6 pseudogene 2 pseudogene pseudogene Approved 12q12 12q12 2015-05-06 2015-05-06 100128817 ENSG00000257173 OTTHUMG00000169296 PGOHUM00000291295 HGNC:51679 +HGNC:20091 AK7 adenylate kinase 7 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "FLJ32864|FAP75|CFAP75" ATP-AMP transphosphorylase 7 "Adenylate kinases|Cilia and flagella associated" "356|1491" 2002-12-17 2021-05-26 122481 ENSG00000140057 OTTHUMG00000171421 uc001yfn.3 AK057426 NM_001350888 CCDS9945 Q96M32 21080915 MGI:1926051 RGD:1309600 615364 HGNC:20091 "ENST00000267584.9|NM_152327.5" HGNC:20091 +HGNC:26526 AK8 adenylate kinase 8 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 FLJ32704 C9orf98 chromosome 9 open reading frame 98 Adenylate kinases 356 2004-03-11 2010-12-07 2010-12-07 2014-11-19 158067 ENSG00000165695 OTTHUMG00000021009 uc004cbu.2 AK093446 NM_152572 CCDS6954 Q96MA6 21080915 MGI:1916120 RGD:1303144 615365 2.7.4.3 HGNC:26526 "ENST00000298545.4|NM_152572.3" +HGNC:33814 AK9 adenylate kinase 9 protein-coding gene gene with protein product Approved 6q21 06q21 "FLJ42177|FLJ25791|dJ70A9.1|MGC26954" "C6orf224|AKD2|C6orf199|AKD1" "chromosome 6 open reading frame 224|adenylate kinase domain containing 2|chromosome 6 open reading frame 199|adenylate kinase domain containing 1" Adenylate kinases 356 2009-03-13 2013-04-29 2013-04-29 2015-10-15 221264 ENSG00000155085 OTTHUMG00000157658 "AK131244|BC146443|BC087860" NM_001145128 "CCDS5077|CCDS55048" Q5TCS8 23416111 MGI:2685080 RGD:1559879 615358 2.7.4.3 HGNC:33814 "ENST00000424296.7|NM_001145128.3" HGNC:33814 +HGNC:28285 AKAIN1 A-kinase anchor inhibitor 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 C18orf42 "chromosome 18 open reading frame 42|A kinase (PRKA) anchor inhibitor 1" 2011-05-06 2016-04-19 2016-09-26 2016-09-26 642597 ENSG00000231824 OTTHUMG00000178457 uc010wzc.2 NM_001145194 "CCDS82235|CCDS54179" P0CW23 25653177 MGI:2444600 RGD:2324352 616427 HGNC:28285 "ENST00000434239.4|NM_001145194.2" +HGNC:367 AKAP1 A-kinase anchoring protein 1 protein-coding gene gene with protein product Approved 17q22 17q22 "AKAP121|AKAP149|SAKAP84|S-AKAP84|AKAP84|D-AKAP1|PPP1R43|TDRD17" "protein kinase anchoring protein 1|dual specificity A-kinase-anchoring protein 1|protein phosphatase 1, regulatory subunit 43|tudor domain containing 17" PRKA1 A kinase (PRKA) anchor protein 1 "A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits|Tudor domain containing" "396|694|780" 1999-09-16 2015-11-17 2020-09-17 8165 ENSG00000121057 OTTHUMG00000140369 uc002iux.4 X97335 NM_001242902 CCDS11594 Q92667 "8769136|7499250" MGI:104729 RGD:620826 602449 HGNC:367 "ENST00000337714.8|NM_003488.4" +HGNC:55339 AKAP1-DT AKAP1 divergent transcript non-coding RNA RNA, long non-coding Approved 17q22 17q22 Divergent transcripts 1990 2020-10-21 2020-10-21 119139901 ENSG00000263004 +HGNC:372 AKAP2 A-kinase anchoring protein 2 other complex locus constituent Approved 9q31.3 09q31.3 "AKAP-KL|KIAA0920|DKFZp564L0716|MISP2" protein kinase A2 PRKA2 A kinase (PRKA) anchor protein 2 A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2020-01-22 OTTHUMG00000156811 uc004bem.4 AB023137 "CCDS43861|CCDS48003|CCDS56581" Q9Y2D5 10231032 MGI:1306795 +HGNC:373 AKAP3 A-kinase anchoring protein 3 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "FSP95|SOB1|AKAP110|CT82" "Fibrous Sheath Protein of 95 kDa|cancer/testis antigen 82" A kinase (PRKA) anchor protein 3 A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2020-09-17 10566 ENSG00000111254 OTTHUMG00000168226 uc031qfv.2 U85715 NM_006422 CCDS8531 O75969 "10334916|10319321" MGI:1341149 RGD:1359735 604689 HGNC:373 "ENST00000228850.6|NM_001278309.2" +HGNC:374 AKAP4 A-kinase anchoring protein 4 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "p82|hAKAP82|AKAP82|Fsc1|HI|CT99" "A-kinase anchor protein 82 kDa|testis-specific gene HI|protein kinase A anchoring protein 4|cancer/testis antigen 99" A kinase (PRKA) anchor protein 4 A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2020-09-17 8852 ENSG00000147081 OTTHUMG00000021517 uc004dow.1 AF072756 NM_003886 "CCDS14329|CCDS14330" Q5JQC9 "9822690|9514854" MGI:102794 RGD:620828 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AKAP4 300185 HGNC:374 "ENST00000358526.7|NM_003886.3" +HGNC:375 AKAP5 A-kinase anchoring protein 5 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "AKAP75|AKAP79" A kinase (PRKA) anchor protein 5 A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2020-09-17 9495 ENSG00000179841 OTTHUMG00000029634 uc001xhd.4 M90359 NM_004857 CCDS9764 P24588 "1512224|1618839" MGI:2685104 RGD:620829 604688 HGNC:375 "ENST00000394718.4|NM_004857.3" +HGNC:376 AKAP6 A-kinase anchoring protein 6 protein-coding gene gene with protein product Approved 14q12 14q12 "KIAA0311|mAKAP|AKAP100|PRKA6|ADAP6" protein kinase A anchoring protein 6 A kinase (PRKA) anchor protein 6 A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2020-09-17 9472 ENSG00000151320 OTTHUMG00000140207 uc001wrq.4 AB002309 NM_004274 CCDS9644 Q13023 "7721854|9205841" MGI:3050566 RGD:69412 604691 HGNC:376 "ENST00000280979.9|NM_004274.5" +HGNC:377 AKAP7 A-kinase anchoring protein 7 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "AKAP18|AKAP15" A kinase (PRKA) anchor protein 7 A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2020-09-17 9465 ENSG00000118507 OTTHUMG00000015563 uc003qck.5 AF047715 NM_004842 "CCDS5144|CCDS5143|CCDS5142" "O43687|Q9P0M2" 9545239 MGI:1859150 RGD:1303071 604693 HGNC:377 "ENST00000431975.7|NM_016377.4" +HGNC:378 AKAP8 A-kinase anchoring protein 8 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "AKAP95|DKFZp586B1222" A-kinase anchor protein, 95kDa A kinase (PRKA) anchor protein 8 A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2020-09-17 10270 ENSG00000105127 OTTHUMG00000182444 uc002nav.4 Y11997 NM_005858 CCDS12329 O43823 9473338 MGI:1928488 RGD:620832 604692 HGNC:378 "ENST00000269701.7|NM_005858.4" +HGNC:29857 AKAP8L A-kinase anchoring protein 8 like protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "NAKAP95|HAP95" neighbor of A kinase anchoring protein 95 A kinase (PRKA) anchor protein 8-like 2004-02-18 2015-11-17 2015-11-17 26993 ENSG00000011243 OTTHUMG00000182446 uc002naw.2 BC000713 NM_014371 "CCDS77249|CCDS46005" Q9ULX6 "10748171|10761695" MGI:1860606 RGD:1359200 609475 HGNC:29857 "ENST00000397410.10|NM_014371.4" +HGNC:49758 AKAP8P1 A-kinase anchoring protein 8 pseudogene 1 pseudogene pseudogene Approved 9p23 09p23 A kinase (PRKA) anchor protein 8 pseudogene 1 2014-02-14 2015-11-17 2015-11-17 646114 ENSG00000234146 OTTHUMG00000019553 NG_021607 PGOHUM00000235963 HGNC:49758 +HGNC:379 AKAP9 A-kinase anchoring protein 9 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "KIAA0803|AKAP350|AKAP450|CG-NAP|YOTIAO|HYPERION|PRKA9|MU-RMS-40.16A|PPP1R45|LQT11" "A-kinase anchoring protein 450|AKAP9-BRAF fusion protein|AKAP120-like protein|centrosome- and golgi-localized protein kinase N-associated protein|protein kinase A anchoring protein 9|A-kinase anchor protein, 350kDa|protein phosphatase 1, regulatory subunit 45|yotiao" A kinase (PRKA) anchor protein 9 "A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits" "396|694" 1999-09-16 2015-11-17 2021-05-26 10142 ENSG00000127914 OTTHUMG00000131127 uc003ulg.4 AF091711 NM_005751 CCDS5622 Q99996 "9482789|10390370|24475373" MGI:2178217 RGD:620833 "AKAP9 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=AKAP9|LRG_331|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_331.xml" 604001 160008 HGNC:379 "ENST00000356239.8|NM_005751.5" HGNC:379 +HGNC:368 AKAP10 A-kinase anchoring protein 10 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "D-AKAP2|PRKA10|MGC9414" "dual-specificity A-kinase anchoring protein 2|protein kinase A anchoring protein 10|mitochondrial A kinase PPKA anchor protein 10" A kinase (PRKA) anchor protein 10 A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2020-09-17 11216 ENSG00000108599 OTTHUMG00000059515 uc002gwo.5 AF037439 NM_007202 "CCDS11214|CCDS82091" O43572 9326583 MGI:1890218 RGD:1308869 604694 HGNC:368 "ENST00000225737.11|NM_007202.4" +HGNC:369 AKAP11 A-kinase anchoring protein 11 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "KIAA0629|AKAP220|PRKA11|FLJ11304|DKFZp781I12161|PPP1R44" "AKAP 220|A-kinase anchoring protein, 220kDa|protein kinase A anchoring protein 11|protein phosphatase 1, regulatory subunit 44" A kinase (PRKA) anchor protein 11 "A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits" "396|694" 1999-09-16 2015-11-17 2020-09-17 11215 ENSG00000023516 OTTHUMG00000016805 uc001uys.2 AB014529 NM_016248 CCDS9383 Q9UKA4 "9734811|8621616" MGI:2684060 RGD:2079 604696 HGNC:369 "ENST00000025301.4|NM_016248.4" +HGNC:370 AKAP12 A-kinase anchoring protein 12 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "AKAP250|SSeCKS" "gravin|Src-Suppressed C Kinase Substrate" "A kinase (PRKA) anchor protein (gravin) 12|A kinase (PRKA) anchor protein 12" A-kinase anchoring proteins 396 1999-09-16 2015-11-17 2020-09-17 9590 ENSG00000131016 OTTHUMG00000015833 uc011eep.4 U81607 NM_001370346 "CCDS5229|CCDS5230" Q02952 9000000 MGI:1932576 RGD:70988 604698 HGNC:370 "ENST00000402676.7|NM_005100.4" +HGNC:371 AKAP13 A-kinase anchoring protein 13 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "Ht31|BRX|AKAP-Lbc|c-lbc|PROTO-LB|HA-3|ARHGEF13" LBC "lymphoid blast crisis oncogene|A kinase (PRKA) anchor protein 13" "A-kinase anchoring proteins|Pleckstrin homology domain containing|Dbl family Rho GEFs|Minor histocompatibility antigens|MicroRNA protein coding host genes" "396|682|722|870|1691" 1999-09-16 2015-11-17 2020-09-17 11214 ENSG00000170776 OTTHUMG00000172205 uc002blu.3 M90360 NM_007200 "CCDS73778|CCDS32320|CCDS32319" Q12802 "9627117|1860836" MGI:2676556 RGD:727893 604686 HGNC:371 "ENST00000394518.7|NM_007200.5" +HGNC:55975 AKAP13-AS1 AKAP13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.3 15q25.3 Antisense RNAs 1987 2021-11-12 2021-11-12 123466214 ENSG00000259367 +HGNC:24061 AKAP14 A-kinase anchoring protein 14 protein-coding gene gene with protein product Approved Xq24 Xq24 AKAP28 A kinase (PRKA) anchor protein 14 A-kinase anchoring proteins 396 2004-09-09 2015-11-17 2020-04-02 158798 ENSG00000186471 OTTHUMG00000022285 uc004ese.4 AF514780 NM_178813 "CCDS35376|CCDS14591|CCDS35377" Q86UN6 12475942 MGI:3618288 RGD:708510 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AKAP14 300462 HGNC:24061 "ENST00000371431.8|NM_178813.6" +HGNC:18783 AKAP17A A-kinase anchoring protein 17A protein-coding gene gene with protein product Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 "XE7|XE7Y|DXYS155E|MGC39904|721P|CCDC133" "CXYorf3|SFRS17A" "chromosome X and Y open reading frame 3|splicing factor, arginine/serine-rich 17A|A kinase (PRKA) anchor protein 17A" "A-kinase anchoring proteins|Pseudoautosomal region 1" "396|715" 2006-09-22 2010-09-08 2015-11-17 2020-04-02 8227 ENSG00000197976 OTTHUMG00000021063 uc004fpn.4 L03426 NM_005088 CCDS14116 Q02040 "9736779|1438229|19840947" MGI:2443758 RGD:1564640 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SFRS17A "312095|465000" HGNC:18783 "ENST00000313871.9|NM_005088.3" +HGNC:38514 AKAP17BP A-kinase anchoring protein 17B, pseudogene pseudogene pseudogene Approved Xq24 Xq24 "AKAP16B|AKAP16BP" "A kinase (PRKA) anchor protein 16B, pseudogene|A kinase (PRKA) anchor protein 17B, pseudogene" A-kinase anchoring proteins 396 2010-09-08 2013-10-16 2015-11-17 2015-11-17 139516 ENSG00000214992 OTTHUMG00000022267 NG_022632 17302988 MGI:2443758 PGOHUM00000241516 HGNC:38514 +HGNC:1170 AKIP1 A-kinase interacting protein 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 BCA3 C11orf17 "chromosome 11 open reading frame 17|A kinase (PRKA) interacting protein 1" 2000-07-31 2011-04-18 2015-11-24 2020-09-17 56672 ENSG00000166452 OTTHUMG00000165653 uc001mgx.4 AF512007 NM_020642 "CCDS55744|CCDS55743|CCDS7793" Q9NQ31 "20562110|18178962|15630084" MGI:3041226 RGD:1306959 609191 HGNC:1170 "ENST00000309377.9|NM_020642.4" +HGNC:25744 AKIRIN1 akirin 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ12666 C1orf108 chromosome 1 open reading frame 108 2005-06-03 2008-06-23 2008-06-23 2014-11-18 79647 ENSG00000174574 OTTHUMG00000007496 uc001ccw.4 AK022728 NM_024595 "CCDS433|CCDS44113" Q9H9L7 19200367 MGI:1915300 RGD:1585989 615164 HGNC:25744 "ENST00000432648.8|NM_024595.3" +HGNC:50794 AKIRIN1P1 akirin 1 pseudogene 1 pseudogene pseudogene Approved 12q21.31 12q21.31 2014-06-18 2014-06-18 100418731 ENSG00000257786 OTTHUMG00000170163 NG_034052 PGOHUM00000239529 HGNC:50794 +HGNC:50797 AKIRIN1P2 akirin 1 pseudogene 2 pseudogene pseudogene Approved Xq12 Xq12 2014-06-18 2014-06-18 2017-03-10 106480306 ENSG00000228125 OTTHUMG00000021742 NG_008960 PGOHUM00000241824 HGNC:50797 +HGNC:21407 AKIRIN2 akirin 2 protein-coding gene gene with protein product Approved 6q15 06q15 "FLJ10342|dJ486L4.2" C6orf166 chromosome 6 open reading frame 166 2003-06-12 2008-06-23 2008-06-23 2019-03-26 55122 ENSG00000135334 OTTHUMG00000015180 uc003pmk.4 BC000764 NM_018064 CCDS5013 Q53H80 19200367 MGI:1889364 RGD:1307791 615165 HGNC:21407 "ENST00000257787.6|NM_018064.4" +HGNC:50796 AKIRIN2P1 akirin 2 pseudogene 1 pseudogene pseudogene Approved 4q31.23 04q31.23 2014-06-18 2014-06-18 100216487 ENSG00000251482 OTTHUMG00000161391 NG_009119 PGOHUM00000246099 HGNC:50796 +HGNC:24108 AKNA AT-hook transcription factor protein-coding gene gene with protein product Approved 9q32 09q32 KIAA1968 2004-05-27 2015-08-24 80709 ENSG00000106948 OTTHUMG00000020538 uc004bis.5 AK024431 NM_030767 CCDS6805 Q7Z591 "11268217|11853319" MGI:2140340 RGD:1308202 605729 HGNC:24108 "ENST00000374088.8|NM_001317950.2" +HGNC:28398 AKNAD1 AKNA domain containing 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 MGC26989 C1orf62 chromosome 1 open reading frame 62 2005-05-13 2009-10-29 2009-10-29 2015-08-24 254268 ENSG00000162641 OTTHUMG00000011231 uc001dwa.5 AK095517 NM_152763 CCDS791 Q5T1N1 MGI:3584453 RGD:1583957 HGNC:28398 "ENST00000370001.8|NM_152763.5" +HGNC:380 AKR1A1 aldo-keto reductase family 1 member A1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "ALR|DD3" "dihydrodiol dehydrogenase 3|aldehyde reductase" aldo-keto reductase family 1, member A1 (aldehyde reductase) Aldo-keto reductases 399 1998-09-29 2016-06-03 2020-09-17 10327 ENSG00000117448 OTTHUMG00000007740 uc001cod.4 J04794 NM_006066 CCDS523 P14550 "2498333|10393438" MGI:1929955 RGD:68346 103830 1.1.1.2 HGNC:380 "ENST00000351829.9|NM_153326.3" +HGNC:381 AKR1B1 aldo-keto reductase family 1 member B protein-coding gene gene with protein product Approved 7q33 07q33 AR aldose reductase ALDR1 aldo-keto reductase family 1, member B1 (aldose reductase) Aldo-keto reductases 399 1991-08-07 2016-06-03 2020-09-17 231 ENSG00000085662 OTTHUMG00000155322 uc003vrp.2 J04795 NM_001628 CCDS5831 P15121 1901827 MGI:1353494 RGD:2092 103880 objectId:2768 1.1.1.21 HGNC:381 "ENST00000285930.9|NM_001628.4" +HGNC:420 AKR1B1P1 aldehyde reductase family 1 member B1 pseudogene 1 pseudogene pseudogene Approved 1q42.12 01q42.12 ALDRL1 aldehyde reductase (aldose reductase)-like 1 1992-03-25 2007-07-31 2016-06-03 2016-06-03 401982 ENSG00000229991 OTTHUMG00000037720 NG_006432 8244370 PGOHUM00000245220 HGNC:420 +HGNC:425 AKR1B1P2 aldo-keto reductase family 1 member B1 pseudogene 2 pseudogene pseudogene Approved 3p12.3 03p12.3 ALDRP aldehyde reductase (aldose reductase) pseudogene 1991-11-25 2007-07-31 2016-06-03 2016-06-03 236 ENSG00000213452 OTTHUMG00000158811 M84454 NG_001071 "1612607|8244370" PGOHUM00000238068 HGNC:425 +HGNC:422 AKR1B1P3 aldo-keto reductase family 1 member B1 pseudogene 3 pseudogene pseudogene Approved 11p15.2 11p15.2 ALDRL3 aldehyde reductase (aldose reductase)-like 3 1992-03-25 2007-07-31 2016-06-03 2017-02-22 729347 ENSG00000213785 OTTHUMG00000165909 NG_007132 8244370 PGOHUM00000290404 HGNC:422 +HGNC:423 AKR1B1P4 aldo-keto reductase family 1 member B1 pseudogene 4 pseudogene pseudogene Approved 13q14.13 13q14.13 ALDRL4 aldehyde reductase (aldose reductase)-like 4 1992-03-25 2007-07-31 2016-06-03 2016-10-05 390402 ENSG00000237876 OTTHUMG00000016860 NG_006989 8244370 PGOHUM00000248391 HGNC:423 +HGNC:20002 AKR1B1P5 aldo-keto reductase family 1 member B1 pseudogene 5 pseudogene pseudogene Approved 14q23.1 14q23.1 AKR1B1P aldo-keto reductase family 1, member B1 pseudogene 2003-10-03 2007-07-31 2016-06-03 2020-04-07 390482 ENSG00000258685 NG_007013 PGOHUM00000247814 HGNC:20002 +HGNC:33498 AKR1B1P6 aldo-keto reductase family 1 member B1 pseudogene 6 pseudogene pseudogene Approved 18p11.22 18p11.22 2007-07-31 2016-06-03 2020-04-20 100129769 ENSG00000225212 OTTHUMG00000178948 NG_017129 PGOHUM00000294715 HGNC:33498 +HGNC:33497 AKR1B1P7 aldo-keto reductase family 1 member B1 pseudogene 7 pseudogene pseudogene Approved 19q13.11 19q13.11 2007-07-31 2016-06-03 2016-07-25 126242 ENSG00000266899 OTTHUMG00000182176 NG_009664 PGOHUM00000294975 HGNC:33497 +HGNC:33496 AKR1B1P8 aldo-keto reductase family 1 member B1 pseudogene 8 pseudogene pseudogene Approved Xq23 Xq23 2007-07-31 2016-06-03 2016-06-03 392525 ENSG00000231371 OTTHUMG00000022241 NG_009682 PGOHUM00000241963 HGNC:33496 +HGNC:382 AKR1B10 aldo-keto reductase family 1 member B10 protein-coding gene gene with protein product Approved 7q33 07q33 "AKR1B12|ARL-1|HIS|ARL1|HSI|ALDRLn" "aldose reductase-like 1|aldo-keto reductase family 1, member B11 (aldose reductase-like)|aldose reductase-like peptide|aldose reductase-related protein|small intestine reductase" AKR1B11 aldo-keto reductase family 1, member B10 (aldose reductase) Aldo-keto reductases 399 2000-08-24 2016-06-03 2020-09-17 57016 ENSG00000198074 OTTHUMG00000155356 uc003vrr.4 AF052577 NM_020299 CCDS5832 O60218 "9765596|9565553" "MGI:101918|MGI:107673|MGI:1915111" RGD:1308277 604707 HGNC:382 "ENST00000359579.5|NM_020299.5" +HGNC:45062 AKR1B10P1 aldo-keto reductase family 1 member B10 pseudogene 1 pseudogene pseudogene Approved 10q21.3 10q21.3 2013-02-07 2016-06-03 2016-06-03 340888 ENSG00000213606 OTTHUMG00000018335 NG_022180 PGOHUM00000238821 HGNC:45062 +HGNC:45063 AKR1B10P2 aldo-keto reductase family 1 member B10 pseudogene 2 pseudogene pseudogene Approved 18q22.1 18q22.1 2013-02-07 2016-06-03 2016-06-03 643582 ENSG00000263355 OTTHUMG00000178549 NG_022495 PGOHUM00000235092 HGNC:45063 +HGNC:37281 AKR1B15 aldo-keto reductase family 1 member B15 protein-coding gene gene with protein product Approved 7q33 07q33 Aldo-keto reductases 399 2009-09-09 2016-06-03 2019-03-26 441282 ENSG00000227471 OTTHUMG00000155376 uc011kpr.3 NM_001080538 CCDS47715 C9JRZ8 25577493 "MGI:101918|MGI:107673|MGI:1915111" RGD:620257 616336 HGNC:37281 "ENST00000457545.7|NM_001080538.3" +HGNC:384 AKR1C1 aldo-keto reductase family 1 member C1 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "DDH|MBAB|DD1|HAKRC" dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase DDH1 aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) Aldo-keto reductases 399 1994-09-14 2016-06-03 2020-09-17 1645 ENSG00000187134 OTTHUMG00000017580 uc001ihq.4 D26124 NM_001353 CCDS7061 Q04828 8011662 "MGI:1351661|MGI:1351662|MGI:1918111|MGI:1924587|MGI:1933427|MGI:2145420|MGI:2145458|MGI:2151104|MGI:2653678" 600449 "1.3.1.20|1.1.1.149|1.1.1.112" HGNC:384 "ENST00000380872.9|NM_001353.6" +HGNC:385 AKR1C2 aldo-keto reductase family 1 member C2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "DD|BABP|DD2|HAKRD|MCDR2" dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III "DDH2|TDD" "aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)|testicular 17,20-desmolase deficiency" Aldo-keto reductases 399 1994-09-14 2016-06-03 2021-05-26 1646 ENSG00000151632 OTTHUMG00000017584 uc057rik.1 L32592 NM_001354 "CCDS7062|CCDS81438|CCDS44350" P52895 "9716498|21802064" "MGI:1351661|MGI:1351662|MGI:1918111|MGI:1924587|MGI:1933427|MGI:2145420|MGI:2145458|MGI:2151104|MGI:2653678" RGD:1311841 600450 292247 "1.3.1.20|1.1.1.213" HGNC:385 "ENST00000380753.9|NM_001393392.1" HGNC:385 +HGNC:386 AKR1C3 aldo-keto reductase family 1 member C3 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "KIAA0119|DDX|HAKRB|PGFS" "dihydrodiol dehydrogenase X|prostaglandin F synthase|3-alpha hydroxysteroid dehydrogenase, type II" HSD17B5 "hydroxysteroid (17-beta) dehydrogenase 5|aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)" Aldo-keto reductases 399 1998-09-29 2016-06-03 2020-09-17 8644 ENSG00000196139 OTTHUMG00000017585 uc001ihu.4 L43839 NM_003739 CCDS7063 P42330 "7650035|9792917" "MGI:1351661|MGI:1351662|MGI:1918111|MGI:1924587|MGI:1933427|MGI:2145420|MGI:2145458|MGI:2151104|MGI:2653678" RGD:708428 603966 objectId:1382 "1.1.1.213|1.1.1.188" HGNC:386 "ENST00000380554.5|NM_003739.6" +HGNC:387 AKR1C4 aldo-keto reductase family 1 member C4 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "DD4|HAKRA|C11|3-alpha-HSD|CDR|MGC22581" "chlordecone reductase|3-alpha hydroxysteroid dehydrogenase, type I|dihydrodiol dehydrogenase 4" CHDR aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) Aldo-keto reductases 399 1993-08-26 2016-06-03 2021-05-26 1109 ENSG00000198610 OTTHUMG00000017591 uc057rjf.1 M33375 NM_001818 CCDS7064 P17516 7789999 "MGI:1351661|MGI:1351662|MGI:1918111|MGI:1924587|MGI:1933427|MGI:2145420|MGI:2145458|MGI:2151104|MGI:2653678" RGD:1306847 600451 292259 1.1.1.225 HGNC:387 "ENST00000263126.3|NM_001818.5" HGNC:387 +HGNC:44679 AKR1C5P aldo-keto reductase family 1 member C5, pseudogene pseudogene pseudogene Approved 10p15.1 10p15.1 aldo-keto reductase family 1, member C5, pseudogene Aldo-keto reductases 399 2012-12-04 2016-06-03 2016-06-03 100996684 ENSG00000225418 OTTHUMG00000017583 PGOHUM00000262838 +HGNC:44680 AKR1C6P aldo-keto reductase family 1 member C6, pseudogene pseudogene pseudogene Approved 10p15.1 10p15.1 TAKR truncated aldo-keto reductase Aldo-keto reductases 399 2012-12-04 2016-06-03 2016-06-03 389932 ENSG00000151631 OTTHUMG00000017578 NR_026743 PGOHUM00000258456 HGNC:44680 +HGNC:44681 AKR1C7P aldo-keto reductase family 1 member C7, pseudogene pseudogene pseudogene Approved 10p15.1 10p15.1 Aldo-keto reductases 399 2012-12-04 2016-06-03 2016-06-03 648947 ENSG00000215267 OTTHUMG00000017588 NG_023403 PGOHUM00000238338 HGNC:44681 +HGNC:23469 AKR1C8 aldo-keto reductase family 1 member C8 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "AKR1CL1|AKR1C8P" "aldo-keto reductase family 1, member C-like 1|aldo-keto reductase family 1 member C8, pseudogene" Aldo-keto reductases 399 2004-05-28 2021-09-24 2021-09-24 2021-09-24 340811 ENSG00000264006 OTTHUMG00000184213 NM_001395972 Q5T2L2 15164054 RGD:1307514 PGOHUM00000289729 HGNC:23469 +HGNC:388 AKR1D1 aldo-keto reductase family 1 member D1 protein-coding gene gene with protein product Approved 7q33 07q33 delta 4-3-ketosteroid-5-beta-reductase SRD5B1 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) Aldo-keto reductases 399 1995-11-02 2016-06-03 2021-05-26 6718 ENSG00000122787 OTTHUMG00000155787 uc064ijt.1 Z28339 NM_005989 "CCDS55169|CCDS5846|CCDS55170" P51857 "7508385|10343119" MGI:2384785 RGD:620752 604741 139142 1.3.99.6 HGNC:388 "ENST00000242375.8|NM_005989.4" HGNC:388 +HGNC:11288 AKR1D1P1 aldo-keto reductase family 1 member D1 pseudogene 1 pseudogene pseudogene Approved 1q24.2 01q24.2 "SRD5BP1|AKR1D1P" "steroid-5-beta-reductase, beta polypeptide pseudogene 1|aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) pseudogene" 1999-01-07 2010-01-19 2016-06-03 2016-06-03 80701 ENSG00000227776 OTTHUMG00000034681 AF283650 NG_002683 10343119 PGOHUM00000245070 HGNC:11288 +HGNC:23437 AKR1E2 aldo-keto reductase family 1 member E2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "MGC10612|HTSP1|htAKR" "1,5-anhydro-D-fructose reductase|human testis specific protein|human testis aldo-keto reductase" "AKRDC1|AKR1CL2" aldo-keto reductase family 1, member C-like 2 Aldo-keto reductases 399 2003-11-18 2009-09-09 2016-06-03 2020-09-22 83592 ENSG00000165568 OTTHUMG00000017577 uc001ihi.5 AB040820 NM_031436 "CCDS59209|CCDS31134|CCDS59210" Q96JD6 "15118078|12604216" MGI:1914758 RGD:1309599 617451 1.1.1.263 HGNC:23437 "ENST00000298375.12|NM_001040177.3" +HGNC:389 AKR7A2 aldo-keto reductase family 7 member A2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 AFAR aflatoxin aldehyde reductase Aldo-keto reductases 399 1998-11-17 2016-06-03 2020-09-17 8574 ENSG00000053371 OTTHUMG00000002522 uc001bbw.4 AF026947 NM_003689 CCDS194 O43488 9576847 MGI:107796 RGD:620311 603418 HGNC:389 "ENST00000235835.8|NM_003689.4" +HGNC:24062 AKR7A2P1 AKR7A2 pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 AFARP1 aldo-keto reductase family 7 member A2 pseudogene 1 2010-09-30 2020-06-04 2020-06-04 246182 ENSG00000229020 OTTHUMG00000012135 AJ277796 NR_002796 12879023 PGOHUM00000244853 HGNC:24062 +HGNC:55059 AKR7A2P2 AKR7A2P pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 2020-06-04 2020-06-04 2020-06-04 2020-06-04 159007 ENSG00000224341 NG_022631 +HGNC:390 AKR7A3 aldo-keto reductase family 7 member A3 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 aflatoxin aldehyde reductase aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) Aldo-keto reductases 399 1999-10-05 2016-06-03 2020-09-17 22977 ENSG00000162482 OTTHUMG00000002523 uc001bbv.2 AF040639 NM_012067 CCDS193 O95154 10383892 MGI:107796 RGD:628635 608477 HGNC:390 "ENST00000361640.5|NM_012067.3" +HGNC:24056 AKR7L aldo-keto reductase family 7 like (gene/pseudogene) protein-coding gene gene with protein product Approved 1p36.13 01p36.13 AFAR3 aldo-keto reductase family 7-like 2008-12-09 2016-06-03 2017-02-09 246181 ENSG00000211454 OTTHUMG00000002520 uc057cwi.1 NM_201252 CCDS192 Q8NHP1 12879023 MGI:107796 608478 HGNC:24056 +HGNC:391 AKT1 AKT serine/threonine kinase 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "RAC|PKB|PRKBA|AKT|RAC-alpha" protein kinase B v-akt murine thymoma viral oncogene homolog 1 "Pleckstrin homology domain containing|AKT kinases" "682|1900" 1986-01-01 2016-05-04 2021-05-26 207 ENSG00000142208 OTTHUMG00000170795 uc001ypm.4 M63167 NM_005163 CCDS9994 P31749 21214427 MGI:87986 RGD:2081 LRG_721|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_721.xml AKT1 164730 281472 objectId:1479 2.7.11.1 HGNC:391 "ENST00000649815.2|NM_001382430.1" HGNC:391 +HGNC:28426 AKT1S1 AKT1 substrate 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "PRAS40|MGC2865|Lobe" proline-rich Akt substrate, 40 kDa AKT1 substrate 1 (proline-rich) MTOR complex 1 1332 2004-03-04 2016-04-26 2016-04-26 84335 ENSG00000204673 OTTHUMG00000150246 uc031rmg.1 BC022241 NM_032375 "CCDS12784|CCDS59410" Q96B36 12524439 MGI:1914855 RGD:1312049 610221 HGNC:28426 "ENST00000344175.10|NM_001098633.4" +HGNC:392 AKT2 AKT serine/threonine kinase 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 PKBβ v-akt murine thymoma viral oncogene homolog 2 "Pleckstrin homology domain containing|MicroRNA protein coding host genes|AKT kinases" "682|1691|1900" 1992-11-05 2016-05-04 2021-05-26 208 ENSG00000105221 OTTHUMG00000137375 uc002onf.3 M77198 NM_001626 "CCDS82350|CCDS12552" P31751 1409633 MGI:104874 RGD:2082 LRG_1391|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1391.xml AKT2 164731 201112 objectId:1480 2.7.11.1 HGNC:392 "ENST00000392038.7|NM_001626.6" HGNC:392 +HGNC:393 AKT3 AKT serine/threonine kinase 3 protein-coding gene gene with protein product Approved 1q43-q44 01q43-q44 "PKBG|RAC-gamma|PRKBG" protein kinase B, gamma v-akt murine thymoma viral oncogene homolog 3 "Pleckstrin homology domain containing|AKT kinases" "682|1900" 1999-11-16 2016-05-04 2021-05-26 10000 ENSG00000117020 OTTHUMG00000039994 uc057qvr.1 AF124141 NM_181690 "CCDS31076|CCDS31077" Q9Y243 "10092583|10208883" MGI:1345147 RGD:62390 LRG_1396|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1396.xml 611223 299660 objectId:2286 2.7.11.1 HGNC:393 "ENST00000673466.1|NM_005465.7" HGNC:393 +HGNC:41304 AKT3-IT1 AKT3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q44 01q44 AKT3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874263 ENSG00000228939 OTTHUMG00000039993 uc057qwa.1 NR_046761 AKT3-IT1 +HGNC:16710 AKTIP AKT interacting protein protein-coding gene gene with protein product Approved 16q12.2 16q12.2 FLJ13258 fused toes homolog FTS fused toes homolog (mouse) "Ubiquitin conjugating enzymes E2|FHF complex" "102|2012" 2001-10-02 2007-01-16 2007-01-16 2021-01-07 64400 ENSG00000166971 OTTHUMG00000133199 uc002ehl.4 AK023320 NM_022476 "CCDS10749|CCDS76866" Q9H8T0 "7818539|8626685" MGI:3693832 RGD:1311170 608483 HGNC:16710 "ENST00000394657.12|NM_022476.4" +HGNC:395 ALAD aminolevulinate dehydratase protein-coding gene gene with protein product Approved 9q32 09q32 "ALADH|PBGS" porphobilinogen synthase aminolevulinate, delta-, dehydratase 1986-01-01 2010-04-29 2021-05-26 210 ENSG00000148218 OTTHUMG00000020522 uc011lxf.3 M13928 NM_001003945 CCDS6794 P13716 "6839527|6378062" MGI:96853 RGD:2083 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 125270 119569 4.2.1.24 HGNC:395 "ENST00000409155.8|NM_000031.6" HGNC:395 +HGNC:396 ALAS1 5'-aminolevulinate synthase 1 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "ALAS3|ALAS" aminolevulinate, delta-, synthase 1 1986-01-01 2014-11-19 2020-09-17 211 ENSG00000023330 OTTHUMG00000158108 uc062kkd.1 X56351 NM_000688 CCDS2847 P13196 "7698013|11267664" MGI:87989 RGD:68392 125290 2.3.1.37 HGNC:396 "ENST00000484952.6|NM_000688.6" +HGNC:397 ALAS2 5'-aminolevulinate synthase 2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 sideroblastic/hypochromic anemia ASB "aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)|aminolevulinate, delta-, synthase 2" 1989-05-25 2014-11-19 2021-05-26 212 ENSG00000158578 OTTHUMG00000021641 uc004dua.4 NM_000032 "CCDS14366|CCDS35303|CCDS43960" P22557 1577484 MGI:87990 RGD:2084 LRG_1163|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1163.xml 301300 119573 2.3.1.37 HGNC:397 "ENST00000650242.1|NM_000032.5" HGNC:397 +HGNC:399 ALB albumin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 1986-01-01 2006-06-30 2006-06-30 2021-05-26 213 ENSG00000163631 OTTHUMG00000129919 uc003hgs.5 V00494 NM_000477 CCDS3555 P02768 "6292049|6192711" MGI:87991 RGD:2085 Albumin mutation database|http://www.albumin.org/ 103600 119576 HGNC:399 "ENST00000295897.9|NM_000477.7" HGNC:399 +HGNC:400 ALCAM activated leukocyte cell adhesion molecule protein-coding gene gene with protein product Approved 3q13.11 03q13.11 "CD166|MEMD" activated leucocyte cell adhesion molecule "CD molecules|V-set domain containing|C2-set domain containing|Ig-like cell adhesion molecule family" "471|590|592|1410" 1997-01-17 2002-08-08 2020-09-17 214 ENSG00000170017 OTTHUMG00000159192 uc003dvx.4 AK054632 NM_001627 "CCDS58841|CCDS33810" Q13740 7760007 MGI:1313266 RGD:619972 601662 CD166 HGNC:400 "ENST00000306107.9|NM_001627.4" +HGNC:402 ALDH1A1 aldehyde dehydrogenase 1 family member A1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 RALDH1 retinaldehyde dehydrogenase 1 "PUMB1|ALDH1" aldehyde dehydrogenase 1 family, member A1 Aldehyde dehydrogenases 398 1986-01-01 2015-11-18 2020-09-17 216 ENSG00000165092 OTTHUMG00000020019 uc004ajd.4 K03000 NM_000689 CCDS6644 P00352 1709013 "MGI:1347050|MGI:1353450" RGD:2087 Human Polymorphisms of ALDH Genes|http://www.aldh.org 100640 1.2.1.36 HGNC:402 "ENST00000297785.8|NM_000689.5" +HGNC:15472 ALDH1A2 aldehyde dehydrogenase 1 family member A2 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 RALDH2 retinaldehyde dehydrogenase 2 aldehyde dehydrogenase 1 family, member A2 Aldehyde dehydrogenases 398 2001-03-30 2015-11-18 2018-05-03 8854 ENSG00000128918 OTTHUMG00000132624 uc002aex.4 AB015228 NM_001206897 "CCDS10164|CCDS10163|CCDS55968|CCDS45266" O94788 9819382 MGI:107928 RGD:620250 603687 469936 HGNC:15472 "ENST00000249750.9|NM_003888.4" +HGNC:27515 ALDH1A2-AS1 ALDH1A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.3 15q21.3 Antisense RNAs 1987 2021-01-07 2021-01-07 283665 ENSG00000259285 NR_147215 +HGNC:409 ALDH1A3 aldehyde dehydrogenase 1 family member A3 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 RALDH3 retinaldehyde dehydrogenase 3 ALDH6 aldehyde dehydrogenase 1 family, member A3 Aldehyde dehydrogenases 398 1994-07-07 2015-11-18 2021-05-26 220 ENSG00000184254 OTTHUMG00000186439 uc002bwn.5 U07919 NM_000693 "CCDS10389|CCDS76794" P47895 7698756 MGI:1861722 RGD:628662 600463 328691 1.2.1.5 HGNC:409 "ENST00000329841.10|NM_000693.4" HGNC:409 +HGNC:55416 ALDH1A3-AS1 ALDH1A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Antisense RNAs 1987 2021-01-06 2021-01-06 101927751 ENSG00000259583 NR_135827 +HGNC:407 ALDH1B1 aldehyde dehydrogenase 1 family member B1 protein-coding gene gene with protein product Approved 9p13.1 09p13.1 ALDHX ALDH5 aldehyde dehydrogenase 1 family, member B1 Aldehyde dehydrogenases 398 1992-02-13 2015-11-18 2020-09-17 219 ENSG00000137124 OTTHUMG00000019938 uc004aay.4 M63967 NM_000692 CCDS6615 P30837 2061311 MGI:1919785 RGD:1306737 100670 469938 1.2.1.3 HGNC:407 "ENST00000377698.4|NM_000692.5" HGNC:407 +HGNC:3978 ALDH1L1 aldehyde dehydrogenase 1 family member L1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "10-fTHF|FDH" cytosolic 10-formyltetrahydrofolate dehydrogenase FTHFD "formyltetrahydrofolate dehydrogenase|aldehyde dehydrogenase 1 family, member L1" Aldehyde dehydrogenases 398 1999-07-23 2005-01-27 2015-11-18 2019-01-11 10840 ENSG00000144908 OTTHUMG00000125551 uc003eim.3 AF052732 NM_012190 "CCDS3034|CCDS58851|CCDS58850" O75891 18848533 MGI:1340024 RGD:621294 600249 1.5.1.6 HGNC:3978 "ENST00000393434.7|NM_012190.4" +HGNC:40244 ALDH1L1-AS1 ALDH1L1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 ALDH1L1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874204 ENSG00000250218 OTTHUMG00000162640 uc031sbq.2 NR_046602 ALDH1L1-AS1 HGNC:40244 +HGNC:42446 ALDH1L1-AS2 ALDH1L1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 ALDH1L1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-05-06 100862662 ENSG00000246022 OTTHUMG00000162642 uc062nki.1 NR_046383 ALDH1L1-AS2 HGNC:42446 +HGNC:26777 ALDH1L2 aldehyde dehydrogenase 1 family member L2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ38508|mtFDH" mitochondrial 10-formyltetrahydrofolate dehydrogenase aldehyde dehydrogenase 1 family, member L2 Aldehyde dehydrogenases 398 2005-01-25 2015-11-18 2018-05-03 160428 ENSG00000136010 OTTHUMG00000169823 uc001tlc.4 AK095827 NM_001034173 CCDS31891 Q3SY69 20498374 MGI:2444680 RGD:1309458 613584 1.5.1.6 HGNC:26777 "ENST00000258494.14|NM_001034173.4" +HGNC:404 ALDH2 aldehyde dehydrogenase 2 family member protein-coding gene gene with protein product Approved 12q24.12 12q24.12 aldehyde dehydrogenase 2 family (mitochondrial) "Aldehyde dehydrogenases|MicroRNA protein coding host genes" "398|1691" 1986-01-01 2018-02-08 2020-09-17 217 ENSG00000111275 OTTHUMG00000169603 uc001tst.4 M26760 NM_000690 "CCDS9155|CCDS55885" P05091 "4015823|2987944" MGI:99600 RGD:69219 Human Polymorphisms of ALDH Genes|http://www.aldh.org 100650 469940 objectId:2595 1.2.1.3 HGNC:404 "ENST00000261733.7|NM_000690.4" +HGNC:405 ALDH3A1 aldehyde dehydrogenase 3 family member A1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 aldehyde dehydrogenase, dimeric NADP-preferring ALDH3 aldehyde dehydrogenase 3 family, member A1 Aldehyde dehydrogenases 398 1986-01-01 2015-11-18 2020-09-17 218 ENSG00000108602 OTTHUMG00000059469 uc002gwj.4 M74542 NM_000691 "CCDS11212|CCDS82090" P30838 "7774944|1737758" MGI:1353451 RGD:2088 Human Polymorphisms of ALDH Genes|http://www.aldh.org/ 100660 1.2.1.5 HGNC:405 "ENST00000225740.11|NM_000691.5" +HGNC:403 ALDH3A2 aldehyde dehydrogenase 3 family member A2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 FALDH fatty aldehyde dehydrogenase "SLS|ALDH10" aldehyde dehydrogenase 3 family, member A2 Aldehyde dehydrogenases 398 1996-06-14 2015-11-18 2021-05-26 224 ENSG00000072210 OTTHUMG00000059471 uc002gwb.2 L47162 NM_000382 "CCDS32589|CCDS11210" P51648 7894487 MGI:1353452 RGD:61866 609523 119583 1.2.1.3 HGNC:403 "ENST00000176643.11|NM_000382.3" HGNC:403 +HGNC:410 ALDH3B1 aldehyde dehydrogenase 3 family member B1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "aldehyde dehydrogenase 7|aldehyde dehydrogenase 3B1" ALDH7 aldehyde dehydrogenase 3 family, member B1 Aldehyde dehydrogenases 398 1997-01-22 2015-11-18 2020-09-17 221 ENSG00000006534 OTTHUMG00000154910 uc031xti.2 U10868 NM_000694 "CCDS73335|CCDS73336|CCDS76443" P43353 "9161417|7828891" MGI:1914939 RGD:1359546 600466 1.2.1.5 HGNC:410 "ENST00000342456.11|NM_000694.4" +HGNC:411 ALDH3B2 aldehyde dehydrogenase 3 family member B2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "aldehyde dehydrogenase 8|acetaldehyde dehydrogenase 8" ALDH8 aldehyde dehydrogenase 3 family, member B2 Aldehyde dehydrogenases 398 1997-01-22 2015-11-18 2020-09-17 222 ENSG00000132746 OTTHUMG00000167284 uc001oms.4 U37519 NM_000695 CCDS31622 P48448 "8890755|9161417" "MGI:1920708|MGI:2147613" RGD:1584166 601917 1.2.1.5 HGNC:411 +HGNC:406 ALDH4A1 aldehyde dehydrogenase 4 family member A1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 P5CDh "L-glutamate gamma-semialdehyde dehydrogenase|Delta-1-pyrroline-5-carboxylate dehydrogenase" ALDH4 aldehyde dehydrogenase 4 family, member A1 "Aldehyde dehydrogenases|MicroRNA protein coding host genes" "398|1691" 1998-11-24 2015-11-18 2021-05-26 8659 ENSG00000159423 OTTHUMG00000002443 uc001bbc.4 U24266 NM_001161504 "CCDS188|CCDS53272|CCDS81273" P30038 8621661 MGI:2443883 RGD:1624206 Human Polymorphisms of ALDH Genes|http://www.aldh.org/ 606811 119588 1.2.1.88 HGNC:406 "ENST00000375341.8|NM_003748.4" HGNC:406 +HGNC:408 ALDH5A1 aldehyde dehydrogenase 5 family member A1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "SSADH|SSDH" succinate-semialdehyde dehydrogenase aldehyde dehydrogenase 5 family, member A1 Aldehyde dehydrogenases 398 1999-06-11 2015-11-18 2021-05-26 7915 ENSG00000112294 OTTHUMG00000014356 uc003neg.4 L34820 NM_001080 "CCDS4555|CCDS4556" P51649 "7814412|9059628" MGI:2441982 RGD:621422 "BIOMBD|http://www.biopku.org/home/biomdb.asp|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ALDH5A1" 610045 119592 objectId:2466 1.2.1.24 HGNC:408 "ENST00000357578.8|NM_001080.3" HGNC:408 +HGNC:7179 ALDH6A1 aldehyde dehydrogenase 6 family member A1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 malonate-semialdehyde dehydrogenase (acetylating) MMSDH aldehyde dehydrogenase 6 family, member A1 Aldehyde dehydrogenases 398 1994-05-12 2015-11-18 2021-05-26 4329 ENSG00000119711 OTTHUMG00000171203 uc001xpo.5 M93405 NM_001278593 "CCDS9826|CCDS61501" Q02252 1527093 MGI:1915077 RGD:621556 603178 289319 1.2.1.27 HGNC:7179 "ENST00000553458.6|NM_005589.4" HGNC:7179 +HGNC:877 ALDH7A1 aldehyde dehydrogenase 7 family member A1 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "EPD|PDE" "antiquitin 1|26g turgor protein homolog|alpha-aminoadipic semialdehyde dehydrogenase|alpha-AASA dehydrogenase|delta1-piperideine-6-carboxylate dehydrogenease|P6c dehydrogenase" ATQ1 aldehyde dehydrogenase 7 family, member A1 Aldehyde dehydrogenases 398 1995-12-11 2015-11-18 2021-05-26 501 ENSG00000164904 OTTHUMG00000128942 uc003ktx.5 S74728 NM_001182 "CCDS4137|CCDS56380" P49419 9417906 MGI:108186 RGD:1308614 BIOMBD|http://www.biopku.org/home/biomdb.asp 107323 119596 1.2.1.31 HGNC:877 "ENST00000409134.8|NM_001182.5" HGNC:877 +HGNC:878 ALDH7A1P1 aldehyde dehydrogenase 7 family member A1 pseudogene 1 pseudogene pseudogene Approved 5q13.3 05q13.3 ATQL1 "antiquitin-like 1|aldehyde dehydrogenase 7 family, member A1 pseudogene 1" 1997-05-09 2005-08-01 2015-11-18 2016-10-05 541 ENSG00000251400 OTTHUMG00000162511 AF002693 NG_023364 "9417906|16004729" PGOHUM00000235664 HGNC:878 +HGNC:879 ALDH7A1P2 aldehyde dehydrogenase 7 family member A1 pseudogene 2 pseudogene pseudogene Approved 2q31.1 02q31.1 ATQL2 "antiquitin-like 2|aldehyde dehydrogenase 7 family, member A1 pseudogene 2" 1997-05-09 2010-09-22 2015-11-18 2015-11-18 542 ENSG00000232292 OTTHUMG00000154092 NG_023632 9417906 PGOHUM00000240425 HGNC:879 +HGNC:880 ALDH7A1P3 aldehyde dehydrogenase 7 family member A1 pseudogene 3 pseudogene pseudogene Approved 7q36.1 07q36.1 ATQL3 "antiquitin-like 3|aldehyde dehydrogenase 7 family, member A1 pseudogene 3" 1997-05-09 2010-09-22 2015-11-18 2016-10-05 543 ENSG00000243853 OTTHUMG00000157476 AF002694 NG_001083 9417906 PGOHUM00000233076 HGNC:880 +HGNC:881 ALDH7A1P4 aldehyde dehydrogenase 7 family member A1 pseudogene 4 pseudogene pseudogene Approved 10q21.2 10q21.2 ATQL4 "antiquitin-like 4|aldehyde dehydrogenase 7 family, member A1 pseudogene 4" 1997-05-09 2010-09-22 2015-11-18 2016-10-05 544 ENSG00000234489 OTTHUMG00000018305 AF002695 NG_001084 9417906 PGOHUM00000262847 HGNC:881 +HGNC:15471 ALDH8A1 aldehyde dehydrogenase 8 family member A1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 ALDH12 aldehyde dehydrogenase 8 family, member A1 Aldehyde dehydrogenases 398 2001-03-30 2015-11-18 2016-10-05 64577 ENSG00000118514 OTTHUMG00000015623 uc003qew.3 AL021939 NM_001193480 "CCDS5172|CCDS5171|CCDS55057" Q9H2A2 11007799 MGI:2653900 RGD:1590218 606467 HGNC:15471 "ENST00000265605.7|NM_022568.4" +HGNC:412 ALDH9A1 aldehyde dehydrogenase 9 family member A1 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 E3 "ALDH7|ALDH4|ALDH9" aldehyde dehydrogenase 9 family, member A1 Aldehyde dehydrogenases 398 1994-12-14 2015-11-18 2020-09-17 223 ENSG00000143149 OTTHUMG00000034677 uc001gdh.2 U34252 NM_000696 CCDS1250 P49189 "8112751|8786138" MGI:1861622 RGD:68409 Human Polymorphisms of ALDH Genes|http://www.aldh.org 602733 objectId:2467 HGNC:412 "ENST00000354775.5|NM_000696.4" +HGNC:28114 ALDH16A1 aldehyde dehydrogenase 16 family member A1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 MGC10204 aldehyde dehydrogenase 16 family, member A1 Aldehyde dehydrogenases 398 2005-01-25 2015-11-18 2019-03-26 126133 ENSG00000161618 OTTHUMG00000183163 uc002pnt.4 AY007096 NM_153329 "CCDS46141|CCDS12766" Q8IZ83 19184135 MGI:1916998 RGD:1566295 613358 HGNC:28114 "ENST00000293350.9|NM_153329.4" +HGNC:9722 ALDH18A1 aldehyde dehydrogenase 18 family member A1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 P5CS delta-1-pyrroline-5-carboxylate synthase "GSAS|PYCS|SPG9" "pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)|spastic paraplegia 9 (autosomal dominant)" Aldehyde dehydrogenases 398 1996-10-02 2004-08-12 2015-11-18 2021-05-26 5832 ENSG00000059573 OTTHUMG00000018815 uc001kkz.4 X94453 NM_002860 "CCDS7443|CCDS31257" P54886 "8921385|26297558" MGI:1888908 RGD:1311431 138250 119578 HGNC:9722 "ENST00000371224.7|NM_002860.4" HGNC:9722 +HGNC:414 ALDOA aldolase, fructose-bisphosphate A protein-coding gene gene with protein product Approved 16p11.2 16p11.2 aldolase A, fructose-bisphosphate Aldolases 1903 1986-01-01 2015-12-04 2021-05-26 226 ENSG00000149925 OTTHUMG00000132107 uc002dvx.4 X05236 NM_000034 "CCDS58450|CCDS10668" P04075 3570299 MGI:87994 RGD:2089 LRG_1180|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1180.xml 103850 119599 4.1.2.13 HGNC:414 "ENST00000642816.3|NM_001243177.4" HGNC:414 +HGNC:415 ALDOAP1 ALDOA pseudogene 1 pseudogene pseudogene Approved 3p21.2 03p21.2 "aldolase A, fructose-bisphosphate pseudogene 1|aldolase, fructose-bisphosphate A pseudogene 1" 1986-01-01 2019-01-18 2019-01-18 391538 ENSG00000242849 OTTHUMG00000157814 NG_004867 PGOHUM00000299439 HGNC:415 +HGNC:416 ALDOAP2 ALDOA pseudogene 2 pseudogene pseudogene Approved 10q26.13 10q26.13 "aldolase A, fructose-bisphosphate pseudogene 2|aldolase, fructose-bisphosphate A pseudogene 2" 1986-01-01 2019-01-18 2019-01-18 228 ENSG00000214297 OTTHUMG00000019228 M21191 NG_005637 3674018 PGOHUM00000238648 HGNC:416 +HGNC:417 ALDOB aldolase, fructose-bisphosphate B protein-coding gene gene with protein product Approved 9q31.1 09q31.1 aldolase B, fructose-bisphosphate Aldolases 1903 1986-01-01 2015-12-04 2021-05-26 229 ENSG00000136872 OTTHUMG00000020378 uc004bbk.3 X01098 NM_000035 CCDS6756 P05062 15880727 MGI:87995 RGD:2090 "Hereditary Fructose Intolerance/Aldolase|http://www.bu.edu/aldolase/|LRG_1244|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1244.xml" 612724 119601 4.1.2.13 HGNC:417 "ENST00000647789.2|NM_000035.4" HGNC:417 +HGNC:418 ALDOC aldolase, fructose-bisphosphate C protein-coding gene gene with protein product Approved 17q11.2 17q11.2 aldolase C, fructose-bisphosphate "Endoribonucleases|Aldolases" "1687|1903" 1986-01-01 2015-12-04 2020-09-17 230 ENSG00000109107 OTTHUMG00000132605 uc002hbp.4 AF054987 NM_005165 CCDS11236 P09972 MGI:101863 RGD:2091 103870 4.1.2.13 HGNC:418 "ENST00000226253.9|NM_005165.3" +HGNC:18294 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HMT-1|HMAT1|CDG1K|Mat-1" "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)|asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)|ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase" Glycosyl transferases group 1 domain containing 427 2003-10-15 2019-01-21 2021-05-26 56052 ENSG00000033011 OTTHUMG00000129529 uc002cym.4 AB019038 NM_019109 "CCDS10528|CCDS81946" Q9BT22 "10704531|14973782" MGI:2384774 RGD:1310700 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 605907 119603 2.4.1.142 HGNC:18294 "ENST00000262374.10|NM_019109.5" HGNC:18294 +HGNC:33721 ALG1L ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like protein-coding gene gene with protein product Approved 3q21.2 03q21.2 ALG1L1 asparagine-linked glycosylation 1-like 1 asparagine-linked glycosylation 1-like Glycosyl transferases group 1 domain containing 427 2009-04-14 2019-01-18 2019-01-18 200810 ENSG00000189366 OTTHUMG00000159588 uc003eig.3 BC073816 NM_001015050 "CCDS74998|CCDS33840" Q6GMV1 MGI:2384774 HGNC:33721 +HGNC:37258 ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 asparagine-linked glycosylation 1-like 2 Glycosyl transferases group 1 domain containing 427 2009-09-24 2019-01-18 2019-01-18 644974 ENSG00000251287 OTTHUMG00000159782 uc011bld.2 BC127756 NM_001136152 C9J202 MGI:2384774 PGOHUM00000258160 HGNC:37258 "ENST00000425059.1|NM_001136152.1" +HGNC:44372 ALG1L3P ALG1 like 3, pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 asparagine-linked glycosylation 1-like 3, pseudogene 2012-09-13 2019-01-18 2019-01-18 100132066 ENSG00000251087 OTTHUMG00000160250 NG_008784 PGOHUM00000245452 HGNC:44372 +HGNC:44374 ALG1L5P ALG1 like 5, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 asparagine-linked glycosylation 1-like 5, pseudogene 2012-09-13 2019-01-18 2019-01-18 647415 ENSG00000226943 OTTHUMG00000158492 NG_008785 PGOHUM00000233116 HGNC:44374 +HGNC:44375 ALG1L6P ALG1 like 6, pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 asparagine-linked glycosylation 1-like 6, pseudogene 2012-09-13 2019-01-18 2019-01-18 339879 ENSG00000238278 OTTHUMG00000158851 NG_008769 PGOHUM00000238073 HGNC:44375 +HGNC:44376 ALG1L7P ALG1 like 7, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 asparagine-linked glycosylation 1-like 7, pseudogene 2012-09-13 2019-01-18 2019-01-18 728263 ENSG00000251271 OTTHUMG00000159841 NG_008780 PGOHUM00000245813 HGNC:44376 +HGNC:44377 ALG1L8P ALG1 like 8, pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 asparagine-linked glycosylation 1-like 8, pseudogene 2012-09-13 2019-01-18 2019-01-18 645015 ENSG00000227620 OTTHUMG00000167242 NG_008772 PGOHUM00000242773 HGNC:44377 +HGNC:44378 ALG1L9P ALG1 like 9, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 asparagine-linked glycosylation 1-like 9, pseudogene 2012-09-13 2019-01-18 2019-01-18 285407 ENSG00000254978 OTTHUMG00000167481 uc031qck.2 NR_073386 PGOHUM00000250382 HGNC:44378 +HGNC:44379 ALG1L10P ALG1 like 10, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 asparagine-linked glycosylation 1-like 10, pseudogene 2012-09-13 2019-01-18 2019-01-18 106479037 ENSG00000254016 OTTHUMG00000168660 NG_044399 PGOHUM00000239646 HGNC:44379 +HGNC:44380 ALG1L11P ALG1 like 11, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 asparagine-linked glycosylation 1-like 11, pseudogene 2012-09-13 2019-01-18 2019-01-18 106480789 ENSG00000249889 OTTHUMG00000160503 NG_045702 PGOHUM00000250021 HGNC:44380 +HGNC:44381 ALG1L12P ALG1 like 12, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 asparagine-linked glycosylation 1-like 12, pseudogene 2012-09-13 2019-01-18 2019-01-18 100421097 ENSG00000250794 OTTHUMG00000160507 NG_026086 PGOHUM00000249572 HGNC:44381 +HGNC:44382 ALG1L13P ALG1 like 13, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 asparagine-linked glycosylation 1-like 13, pseudogene 2012-09-13 2019-01-18 2019-01-18 106479038 ENSG00000253981 OTTHUMG00000163708 NG_044407 PGOHUM00000249224 HGNC:44382 +HGNC:44383 ALG1L14P ALG1 like 14, pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 asparagine-linked glycosylation 1-like 14, pseudogene 2012-09-13 2019-01-18 2019-01-18 100996649 ENSG00000250268 OTTHUMG00000160157 PGOHUM00000245447 HGNC:44383 +HGNC:44384 ALG1L15P ALG1 like 15, pseudogene pseudogene pseudogene Approved 3q25.31 03q25.31 asparagine-linked glycosylation 1-like 15, pseudogene 2012-09-13 2019-01-18 2019-01-18 730086 ENSG00000242017 OTTHUMG00000158546 NG_008778 PGOHUM00000237831 HGNC:44384 +HGNC:23159 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "CDGIi|FLJ14511|hALPG2|NET38|CDG1I" "asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)|asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)" Glycosyl transferases group 1 domain containing 427 2003-10-15 2019-01-18 2021-05-26 85365 ENSG00000119523 OTTHUMG00000020355 uc004azf.4 AK027417 NM_033087 CCDS6739 Q9H553 "12684507|23404334" MGI:1914731 RGD:1309940 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 607905 119613 "2.4.1.132|2.4.1.257" HGNC:23159 "ENST00000476832.2|NM_033087.4" HGNC:23159 +HGNC:23056 ALG3 ALG3 alpha-1,3- mannosyltransferase protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "NOT56L|Not56|CDGS4|D16Ertd36e" "carbohydrate deficient glycoprotein syndrome type IV|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase|dol-P-Man dependent alpha-1,3- mannosyltransferase" "asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)|asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)" Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 2003-10-15 2019-01-18 2021-05-26 10195 ENSG00000214160 OTTHUMG00000156823 uc003fne.3 BC002839 NM_005787 "CCDS46967|CCDS46968" Q92685 1058125 MGI:1098592 RGD:1306004 Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/ 608750 119618 2.4.1.258 HGNC:23056 "ENST00000397676.8|NM_005787.6" HGNC:23056 +HGNC:45159 ALG3P1 ALG3 pseudogene 1 pseudogene pseudogene Approved 5p15.32 05p15.32 2013-02-25 2019-01-18 2019-01-18 442131 ENSG00000251568 OTTHUMG00000161662 NG_004807 PGOHUM00000235111 HGNC:45159 +HGNC:20266 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase protein-coding gene gene with protein product Approved 13q13.3 13q13.3 bA421P11.2 "asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)|asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)" Glycosyltransferase family 2 428 2003-10-15 2019-01-18 2019-01-18 29880 ENSG00000120697 OTTHUMG00000016741 uc001uvy.4 AF088028 NM_013338 "CCDS9361|CCDS45033" Q9Y673 10359825 MGI:1913498 RGD:1308900 604565 2.4.1.117 HGNC:20266 "ENST00000239891.4|NM_013338.5" +HGNC:23157 ALG6 ALG6 alpha-1,3-glucosyltransferase protein-coding gene gene with protein product Approved 1p31.3 01p31.3 dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)" Alpha-1,3-glucosyltransferases 447 2003-10-15 2019-01-18 2021-05-26 29929 ENSG00000088035 OTTHUMG00000009140 uc021oof.1 AF063604 NM_013339 CCDS30735 Q9Y672 "10359825|11875054" MGI:2444031 RGD:1308815 "Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/|LRG_1260|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1260.xml" 604566 119624 2.4.1.267 HGNC:23157 "ENST00000263440.6|NM_013339.4" HGNC:23157 +HGNC:23161 ALG8 ALG8 alpha-1,3-glucosyltransferase protein-coding gene gene with protein product Approved 11q14.1 11q14.1 MGC2840 dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)|asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)" Alpha-1,3-glucosyltransferases 447 2003-10-15 2019-01-18 2021-05-26 79053 ENSG00000159063 OTTHUMG00000166594 uc001oza.2 AJ224875 NM_024079 "CCDS8258|CCDS41692" Q9BVK2 MGI:2141959 RGD:1305468 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 608103 119626 2.4.1.265 HGNC:23161 "ENST00000299626.10|NM_024079.5" HGNC:23161 +HGNC:15672 ALG9 ALG9 alpha-1,2-mannosyltransferase protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase|dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase|dol-P-Man dependent alpha-1,2-mannosyltransferase" DIBD1 "disrupted in bipolar affective disorder 1|asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)|asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)|asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)" Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 2003-04-23 2004-08-26 2019-01-18 2021-05-26 79796 ENSG00000086848 OTTHUMG00000166819 uc031yet.2 NM_024740 "CCDS53709|CCDS73380|CCDS41714|CCDS73379" Q9H6U8 "12030331|15148656" MGI:1924753 RGD:1311272 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 606941 119629 "2.4.1.259|2.4.1.261" HGNC:15672 "ENST00000616540.5|NM_024740.2" HGNC:15672 +HGNC:41409 ALG9-IT1 ALG9 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 11q23.1 11q23.1 ALG9 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874303 ENSG00000254450 OTTHUMG00000166796 uc058hfk.1 ALG9-IT1 +HGNC:23162 ALG10 ALG10 alpha-1,2-glucosyltransferase protein-coding gene gene with protein product Approved 12p11.1 12p11.1 "FLJ14751|DIE2|ALG10A" "derepression of ITR1 expression 2 homolog (S. cerevisiae)|dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase" "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)|asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)" Alpha-1,2-glucosyltransferases 448 2003-10-15 2019-01-18 2019-01-18 84920 ENSG00000139133 OTTHUMG00000169285 uc001rlm.4 AJ312278 NM_032834 CCDS41769 Q5BKT4 MGI:2146159 RGD:708500 618355 2.4.1.256 HGNC:23162 "ENST00000266483.7|NM_032834.4" +HGNC:31088 ALG10B ALG10 alpha-1,2-glucosyltransferase B protein-coding gene gene with protein product Approved 12q12 12q12 KCR1 "potassium channel regulator 1|dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase" asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) Alpha-1,2-glucosyltransferases 448 2004-11-30 2019-01-18 2021-10-28 144245 ENSG00000175548 OTTHUMG00000169298 uc001rln.5 AY845858 NM_001013620 "CCDS76548|CCDS31772" Q5I7T1 MGI:2146159 603313 2.4.1.256 HGNC:31088 "ENST00000308742.9|NM_001013620.4" +HGNC:32456 ALG11 ALG11 alpha-1,2-mannosyltransferase protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "KIAA0266|CDG1P" GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase "asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)|asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)" Glycosyl transferases group 1 domain containing 427 2006-03-24 2019-01-18 2021-05-26 440138 ENSG00000253710 OTTHUMG00000016959 uc001vga.4 AK025456 NM_001004127 CCDS31977 Q2TAA5 20080937 MGI:2142632 RGD:1564725 613666 280090 2.4.1.131 HGNC:32456 "ENST00000521508.2|NM_001004127.3" HGNC:32456 +HGNC:19358 ALG12 ALG12 alpha-1,6-mannosyltransferase protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "ECM39|CDG1G" "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase|dol-P-Man dependent alpha-1,6-mannosyltransferase" "asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)|asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)" Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 2003-10-15 2019-01-18 2021-05-26 79087 ENSG00000182858 OTTHUMG00000150289 uc003biy.4 AJ303120 NM_024105 CCDS14081 Q9BV10 11983712 MGI:2385025 RGD:1304826 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 607144 119610 2.4.1.260 HGNC:19358 "ENST00000330817.11|NM_024105.4" HGNC:19358 +HGNC:30881 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit protein-coding gene gene with protein product Approved Xq23 Xq23 "MDS031|YGL047W|FLJ23018|TDRD13|CDG1S" "tudor domain containing 13|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase" "GLT28D1|CXorf45" "glycosyltransferase 28 domain containing 1|chromosome X open reading frame 45|asparagine-linked glycosylation 13 homolog (S. cerevisiae)" "UDP-N-acetylglucosaminyltransferase subunits|OTU domain containing|Tudor domain containing" "449|669|780" 2004-09-16 2006-11-07 2019-01-18 2021-05-26 79868 ENSG00000101901 OTTHUMG00000022209 uc011msy.3 AF220051 NM_018466 "CCDS76013|CCDS14559|CCDS55477|CCDS76011|CCDS59173" Q9NP73 "22492991|24501762" MGI:1914824 RGD:1359416 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ALG13 300776 327338 C85.005 2.4.1.141 HGNC:30881 "ENST00000394780.8|NM_001099922.3" HGNC:30881 +HGNC:41277 ALG13-AS1 ALG13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq23 Xq23 ALG13 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 106478971 ENSG00000229487 OTTHUMG00000067670 uc065atf.1 ALG13-AS1 +HGNC:28287 ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit protein-coding gene gene with protein product Approved 1p21.3 01p21.3 MGC19780 "asparagine-linked glycosylation 14 homolog (yeast)|asparagine-linked glycosylation 14 homolog (S. cerevisiae)" UDP-N-acetylglucosaminyltransferase subunits 449 2005-08-09 2019-01-18 2021-05-26 199857 ENSG00000172339 OTTHUMG00000010781 uc001dra.3 NM_144988 CCDS752 Q96F25 "15615718|23404334" MGI:1914039 RGD:1312003 612866 330740 HGNC:28287 "ENST00000370205.6|NM_144988.4" HGNC:28287 +HGNC:41192 ALG14-AS1 ALG14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Antisense RNAs 1987 2019-07-19 2019-07-19 101928098 ENSG00000230427 OTTHUMG00000010779 NR_132786 HGNC:41192 +HGNC:427 ALK ALK receptor tyrosine kinase protein-coding gene gene with protein product Approved 2p23.2-p23.1 02p23.2-p23.1 "CD246|ALK1" "anaplastic lymphoma kinase (Ki-1)|anaplastic lymphoma receptor tyrosine kinase" "Receptor tyrosine kinases|CD molecules" "321|471" 1993-08-24 2017-03-01 2021-10-18 238 ENSG00000171094 OTTHUMG00000152034 uc002rmy.4 D45915 NM_004304 "CCDS86828|CCDS33172" Q9UM73 8122112 MGI:103305 RGD:628622 LRG_488|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_488.xml ALK 105590 160020 objectId:1839 CD246 HGNC:427 "ENST00000389048.8|NM_004304.5" HGNC:427 +HGNC:33775 ALKAL1 ALK and LTK ligand 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "UNQ9433|AUGB" augmentor-beta FAM150A "family with sequence similarity 150, member A|family with sequence similarity 150 member A" 2007-12-18 2017-02-03 2017-02-03 2019-03-25 389658 ENSG00000196711 OTTHUMG00000164256 uc003xrd.4 NM_207413 CCDS6150 Q6UXT8 "26630010|26418745|29317532" MGI:3645495 RGD:1583530 619670 HGNC:33775 "ENST00000358543.9|NM_207413.4" +HGNC:27683 ALKAL2 ALK and LTK ligand 2 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 AUGA augmentor-alpha FAM150B "family with sequence similarity 150, member B|family with sequence similarity 150 member B" 2007-12-18 2017-02-03 2017-02-03 2017-10-25 285016 ENSG00000189292 OTTHUMG00000151366 uc002qwi.5 NM_001002919 CCDS46218 Q6UX46 "26630010|26418745" MGI:3697448 RGD:1587117 619671 HGNC:27683 "ENST00000403610.9|NM_001002919.3" +HGNC:17911 ALKBH1 alkB homolog 1, histone H2A dioxygenase protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "hABH|alkB|ABH" ALKBH "alkB, alkylation repair homolog (E. coli)|alkB, alkylation repair homolog 1 (E. coli)" Alkylation repair homologs 401 2002-11-27 2006-02-09 2015-06-26 2016-10-05 8846 ENSG00000100601 OTTHUMG00000171542 uc001xuc.2 X91992 NM_006020 CCDS32127 Q13686 "8600462|22961808" MGI:2384034 RGD:1308327 605345 HGNC:17911 "ENST00000216489.8|NM_006020.3" +HGNC:32487 ALKBH2 alkB homolog 2, alpha-ketoglutarate dependent dioxygenase protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "MGC90512|ABH2" alkB, alkylation repair homolog 2 (E. coli) Alkylation repair homologs 401 2006-02-09 2016-06-08 2019-03-26 121642 ENSG00000189046 OTTHUMG00000169246 uc001tny.3 AY754389 NM_001001655 "CCDS55883|CCDS31897" Q6NS38 26408825 MGI:2141032 RGD:1306377 610602 HGNC:32487 "ENST00000429722.3|NM_001145374.2" +HGNC:30141 ALKBH3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase protein-coding gene gene with protein product Approved 11p11.2 11p11.2 DEPC-1 alkB, alkylation repair homolog 3 (E. coli) Alkylation repair homologs 401 2006-02-09 2020-04-15 2020-04-15 221120 ENSG00000166199 OTTHUMG00000166417 uc001mxs.3 AB042029 NM_139178 CCDS7906 Q96Q83 22055184 MGI:1916363 RGD:1359731 610603 HGNC:30141 "ENST00000302708.9|NM_139178.4" +HGNC:48670 ALKBH3-AS1 ALKBH3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Antisense RNAs 1987 2013-06-06 2013-06-06 100507300 ENSG00000244926 OTTHUMG00000166553 NR_038907 ALKBH3-AS1 HGNC:48670 +HGNC:21900 ALKBH4 alkB homolog 4, lysine demethylase protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ20013 alkB, alkylation repair homolog 4 (E. coli) Alkylation repair homologs 401 2006-02-09 2015-12-03 2015-12-03 54784 ENSG00000160993 OTTHUMG00000157720 uc003uzl.4 BC017096 NM_017621 CCDS5723 Q9NXW9 23673617 MGI:1919291 RGD:1308608 613302 HGNC:21900 "ENST00000292566.4|NM_017621.4" +HGNC:25996 ALKBH5 alkB homolog 5, RNA demethylase protein-coding gene gene with protein product Approved 17p11.2 17p11.2 FLJ20308 OFOXD1 "oxoglutarate and iron-dependent oxygenase domain containing|alkB, alkylation repair homolog 5 (E. coli)|AlkB family member 5, RNA demethylase" Alkylation repair homologs 401 2005-12-15 2006-02-09 2015-06-26 2015-06-26 54890 ENSG00000091542 OTTHUMG00000059397 uc010cpw.4 AK000315 NM_017758 CCDS42272 Q6P6C2 "11997338|24778178" MGI:2144489 RGD:1309496 613303 1.14.11.- HGNC:25996 "ENST00000399138.5|NM_017758.4" +HGNC:28243 ALKBH6 alkB homolog 6 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 MGC15677 alkB, alkylation repair homolog 6 (E. coli) Alkylation repair homologs 401 2006-02-09 2015-06-26 2015-06-26 84964 ENSG00000239382 OTTHUMG00000048137 uc002ocv.2 BM713594 NM_032878 CCDS74342 Q3KRA9 8889548 MGI:2142037 RGD:1566318 613304 HGNC:28243 "ENST00000378875.8|NM_032878.5" +HGNC:21306 ALKBH7 alkB homolog 7 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC10974 SPATA11 "spermatogenesis associated 11|alkB, alkylation repair homolog 7 (E. coli)" Alkylation repair homologs 401 2003-12-10 2006-02-09 2015-06-26 2018-05-24 84266 ENSG00000125652 OTTHUMG00000180792 uc002meo.3 AY427650 NM_032306 CCDS12163 Q9BT30 23666923 MGI:1913650 RGD:1598126 613305 HGNC:21306 "ENST00000245812.8|NM_032306.4" +HGNC:25189 ALKBH8 alkB homolog 8, tRNA methyltransferase protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "MGC10235|TRM9|TRMT9A" tRNA methyltransferase 9 related alkB, alkylation repair homolog 8 (E. coli) "Alkylation repair homologs|RNA binding motif containing|7BS DNA/RNA methyltransferases" "401|725|2059" 2006-02-09 2015-06-26 2017-12-01 91801 ENSG00000137760 OTTHUMG00000157008 uc009yxp.4 AF086489 NM_138775 CCDS8337 Q96BT7 "20123966|21285950" MGI:1914917 RGD:1304687 613306 2.1.1.229 HGNC:25189 "ENST00000428149.7|NM_138775.3" HGNC:25189 +HGNC:17377 ALLC allantoicase protein-coding gene gene with protein product Approved 2p25.3 02p25.3 ALC 2001-12-21 2014-11-18 55821 ENSG00000151360 OTTHUMG00000151485 uc010ewt.4 AF215924 NM_018436 CCDS46223 Q8N6M5 11054555 MGI:2136971 RGD:621804 612396 HGNC:17377 "ENST00000252505.4|NM_018436.4" +HGNC:428 ALMS1 ALMS1 centrosome and basal body associated protein protein-coding gene gene with protein product Approved 2p13.1 02p13.1 KIAA0328 "Alstrom syndrome 1|Alstrom syndrome protein 1" 1998-10-12 2019-01-22 2021-05-26 7840 ENSG00000116127 OTTHUMG00000152812 uc032nrd.1 AB002326 NM_015120 CCDS42697 Q8TCU4 9063741 MGI:1934606 RGD:1311590 LRG_741|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_741.xml 606844 119632 HGNC:428 "ENST00000613296.6|NM_001378454.1" HGNC:428 +HGNC:41305 ALMS1-IT1 ALMS1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p13.1 02p13.1 ALMS1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874291 ENSG00000230002 OTTHUMG00000152785 uc032nrh.2 BC041487 NR_046762 ALMS1-IT1 HGNC:41305 +HGNC:29586 ALMS1P1 ALMS1 pseudogene 1 pseudogene pseudogene Approved 2p13.1 02p13.1 "ALMS1L|ALMS1P" "Alstrom syndrome 1-like|Alstrom syndrome 1 pseudogene|ALMS1, centrosome and basal body associated protein pseudogene 1" 2007-08-06 2015-12-02 2019-01-18 2019-01-18 200420 ENSG00000163016 OTTHUMG00000152773 BC014492 NR_003683 12477932 HGNC:29586 +HGNC:435 ALOX5 arachidonate 5-lipoxygenase protein-coding gene gene with protein product Approved 10q11.21 10q11.21 5-LOX Arachidonate lipoxygenases 407 1992-07-10 2020-09-17 240 ENSG00000012779 OTTHUMG00000018081 uc001jce.5 J03571 NM_000698 "CCDS7212|CCDS58078" P09917 2565035 MGI:87999 RGD:2096 152390 objectId:1385 1.13.11.34 HGNC:435 "ENST00000374391.7|NM_000698.5" +HGNC:436 ALOX5AP arachidonate 5-lipoxygenase activating protein protein-coding gene gene with protein product Approved 13q12.3 13q12.3 FLAP "five-lipoxygenase activating protein|MK-886-binding protein" arachidonate 5-lipoxygenase-activating protein 1997-10-10 2016-02-01 2020-09-17 241 ENSG00000132965 OTTHUMG00000016677 uc001utf.3 AH001462 NM_001629 "CCDS73558|CCDS9337" P20292 "1673682|10036194" MGI:107505 RGD:2097 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ALOX5AP 603700 ligandId:5183 HGNC:436 "ENST00000380490.5|NM_001629.4" +HGNC:429 ALOX12 arachidonate 12-lipoxygenase, 12S type protein-coding gene gene with protein product Approved 17p13.1 17p13.1 12S-LOX "platelet 12-LOX|Arachidonate 12-lipoxygenase, 12S-type" arachidonate 12-lipoxygenase Arachidonate lipoxygenases 407 1991-08-07 2016-05-05 2020-09-17 239 ENSG00000108839 OTTHUMG00000102088 uc002gdx.4 M35418 NM_000697 CCDS11084 P18054 1570320 MGI:87998 RGD:1311159 152391 objectId:1387 1.13.11.31 HGNC:429 "ENST00000251535.11|NM_000697.3" +HGNC:51342 ALOX12-AS1 ALOX12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.1 17p13.1 Antisense RNAs 1987 2014-10-10 2014-10-10 100506713 ENSG00000215067 OTTHUMG00000132903 AK074580 NR_040089 HGNC:51342 +HGNC:430 ALOX12B arachidonate 12-lipoxygenase, 12R type protein-coding gene gene with protein product Approved 17p13.1 17p13.1 12R-LOX 12R-lipoxygenase Arachidonate lipoxygenases 407 1998-07-22 2021-05-26 242 ENSG00000179477 OTTHUMG00000108180 uc002gjy.1 AF038461 NM_001139 CCDS11129 O75342 9618483 MGI:1274782 RGD:1305330 LRG_1264|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1264.xml 603741 119635 objectId:1386 1.13.11.31 HGNC:430 "ENST00000647874.1|NM_001139.3" HGNC:430 +HGNC:431 ALOX12P1 arachidonate 12-lipoxygenase pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 ALOX12P 1992-11-20 2015-09-21 243 ENSG00000264958 OTTHUMG00000178853 M87004 NG_000844 1570320 PGOHUM00000294377 HGNC:431 +HGNC:432 ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 pseudogene pseudogene Approved 17p13.1 17p13.1 1998-08-26 2014-11-18 245 ENSG00000262943 OTTHUMG00000177324 AF020774 NR_002710 9691181 PGOHUM00000237213 HGNC:432 +HGNC:433 ALOX15 arachidonate 15-lipoxygenase protein-coding gene gene with protein product Approved 17p13.2 17p13.2 15-LOX-1 Arachidonate lipoxygenases 407 1992-11-20 2020-09-17 246 ENSG00000161905 OTTHUMG00000090746 uc010vse.3 M23892 NM_001140 CCDS11049 P16050 1570320 MGI:87997 RGD:70493 152392 objectId:1388 1.13.11.33 HGNC:433 "ENST00000293761.8|NM_001140.5" HGNC:433 +HGNC:434 ALOX15B arachidonate 15-lipoxygenase type B protein-coding gene gene with protein product Approved 17p13.1 17p13.1 15-LOX-2 arachidonate 15-lipoxygenase, second type Arachidonate lipoxygenases 407 1998-07-22 2019-01-18 2020-09-17 247 ENSG00000179593 OTTHUMG00000108181 uc002gju.4 U78294 NM_001039130 "CCDS32559|CCDS32558|CCDS11128" O15296 9177185 MGI:1098228 RGD:628809 603697 objectId:1389 1.13.11.33 HGNC:434 "ENST00000380183.9|NM_001141.3" +HGNC:13742 ALOX15P1 arachidonate 15-lipoxygenase pseudogene 1 pseudogene pseudogene Approved 17p13.1 17p13.1 ALOX15P arachidonate 15-lipoxygenase pseudogene 2000-11-29 2010-09-24 2010-09-24 2020-04-20 100652883 ENSG00000274114 OTTHUMG00000187904 NR_045985 PGOHUM00000237211 HGNC:13742 +HGNC:39027 ALOX15P2 arachidonate 15-lipoxygenase pseudogene 2 pseudogene pseudogene Approved 9q22.31 09q22.31 2010-09-24 2014-11-19 642959 ENSG00000188101 OTTHUMG00000020239 NG_028727 PGOHUM00000236709 HGNC:39027 +HGNC:13743 ALOXE3 arachidonate lipoxygenase 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "eLOX3|E-LOX" "Epidermal lipoxygenase-3|hydroperoxide isomerase" Arachidonate lipoxygenases 407 2000-11-29 2021-05-26 59344 ENSG00000179148 OTTHUMG00000108179 uc010cnr.4 AJ269499 NM_001165960 "CCDS54084|CCDS11130" Q9BYJ1 12881489 MGI:1345140 RGD:1306252 607206 119637 objectId:1390 1.13.11.- HGNC:13743 "ENST00000448843.7|NM_021628.3" HGNC:13743 +HGNC:44238 ALOXE3P1 arachidonate lipoxygenase 3 pseudogene 1 pseudogene pseudogene Approved 17p13.1 17p13.1 2012-07-23 2020-04-07 100420216 ENSG00000275011 OTTHUMG00000187905 NG_026215 PGOHUM00000237219 HGNC:44238 +HGNC:441 ALPG alkaline phosphatase, germ cell protein-coding gene gene with protein product Approved 2q37.1 02q37.1 GCAP germ cell alkaline phosphatase ALPPL2 alkaline phosphatase, placental like 2 Alkaline phosphatases 1072 1990-07-06 2018-04-16 2018-04-16 2020-09-17 251 ENSG00000163286 OTTHUMG00000133257 uc002vss.5 J04948 NM_031313 CCDS2491 P10696 "MGI:108009|MGI:1924018|MGI:87984" RGD:1565100 171810 HGNC:441 "ENST00000295453.8|NM_031313.3" +HGNC:437 ALPI alkaline phosphatase, intestinal protein-coding gene gene with protein product Approved 2q37.1 02q37.1 IAP intestinal alkaline phosphatase Alkaline phosphatases 1072 1986-01-01 2020-09-17 248 ENSG00000163295 OTTHUMG00000133258 uc002vst.4 M15694 NM_001631 CCDS2492 P09923 "3468508|3469665" "MGI:87984|MGI:108009|MGI:1924018" RGD:2099 171740 3.1.3.1 HGNC:437 "ENST00000295463.4|NM_001631.5" +HGNC:20917 ALPK1 alpha kinase 1 protein-coding gene gene with protein product Approved 4q25 04q25 "Lak|FLJ22670|KIAA1527" lymphocyte alpha-kinase 2004-12-01 2015-11-11 2021-05-26 80216 ENSG00000073331 OTTHUMG00000132911 uc003iap.5 AY044164 NM_025144 "CCDS58923|CCDS3697" Q96QP1 "10021370|10819331" MGI:1918731 RGD:1304613 607347 objectId:1930 HGNC:20917 "ENST00000650871.1|NM_025144.4" HGNC:20917 +HGNC:20565 ALPK2 alpha kinase 2 protein-coding gene gene with protein product Approved 18q21.31-q21.32 18q21.31-q21.32 HAK heart alpha-kinase I-set domain containing 593 2004-12-01 2015-11-11 2018-02-13 115701 ENSG00000198796 OTTHUMG00000132755 uc002lhj.5 AY044450 NM_052947 CCDS11966 Q86TB3 10021370 MGI:2449492 RGD:1564431 HGNC:20565 "ENST00000361673.4|NM_052947.4" +HGNC:17574 ALPK3 alpha kinase 3 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "MAK|KIAA1330|Midori" "myocyte induction differentiation originator|muscle alpha-kinase" I-set domain containing 593 2004-12-01 2015-11-11 2021-05-26 57538 ENSG00000136383 OTTHUMG00000148667 uc002ble.3 AY044449 NM_020778 CCDS10333 Q96L96 10021370 MGI:2151224 RGD:1309860 617608 469942 objectId:1931 HGNC:17574 "ENST00000258888.6|NM_020778.5" HGNC:17574 +HGNC:438 ALPL alkaline phosphatase, biomineralization associated protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "TNSALP|TNALP|TNAP" tissue non-specific alkaline phosphatase HOPS alkaline phosphatase, liver/bone/kidney Alkaline phosphatases 1072 1986-01-01 2018-08-08 2021-05-26 249 ENSG00000162551 OTTHUMG00000002949 uc001bet.4 BC021289 NM_000478 "CCDS217|CCDS53275|CCDS53274" P05186 "3532105|3446011" MGI:87983 RGD:2100 Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database|http://www.sesep.uvsq.fr/Database.html 171760 119640 3.1.3.1 HGNC:438 "ENST00000374840.8|NM_000478.6" HGNC:438 +HGNC:439 ALPP alkaline phosphatase, placental protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "PALP|PLAP" "Regan isozyme|placental alkaline phosphatase" alkaline phosphatase, placental (Regan isozyme) Alkaline phosphatases 1072 1986-01-01 2010-06-24 2020-09-17 250 ENSG00000163283 OTTHUMG00000133255 uc002vsq.4 M14169 NM_001632 CCDS2490 P05187 "3001717|3461452" "MGI:108009|MGI:1924018" RGD:2325055 171800 3.1.3.1 HGNC:439 "ENST00000392027.3|NM_001632.5" +HGNC:14016 ALPPP alkaline phosphatase, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2002-08-30 2004-11-26 260330 AF307337 11352565 +HGNC:443 ALS2 alsin Rho guanine nucleotide exchange factor ALS2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 alsin ALS2CR6 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6|amyotrophic lateral sclerosis 2 (juvenile)" "Dbl family Rho GEFs|VPS9 domain containing" "722|928" 1992-11-19 2019-01-21 2021-05-26 57679 ENSG00000003393 OTTHUMG00000154507 uc002uyo.4 AB053305 NM_020919 "CCDS46492|CCDS42800" Q96Q42 11586298 MGI:1921268 RGD:1310372 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_654|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_654.xml" 606352 119644 HGNC:443 "ENST00000264276.11|NM_020919.4" HGNC:443 +HGNC:20605 ALS2CL ALS2 C-terminal like protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ36525|RN49018|DKFZp686I0110" "Dbl family Rho GEFs|VPS9 domain containing" "722|928" 2003-03-05 2020-04-20 259173 ENSG00000178038 OTTHUMG00000128673 uc003cqb.3 AK074118 NM_147129 CCDS2743 Q60I27 "15388334|8889548|17239822" MGI:2447532 RGD:1305208 612402 HGNC:20605 "ENST00000318962.9|NM_147129.5" +HGNC:1494 ALX1 ALX homeobox 1 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 CART1 cartilage paired-class homeoprotein 1 PRD class homeoboxes and pseudogenes 521 1999-08-26 2007-07-26 2007-07-26 2021-05-26 8092 ENSG00000180318 OTTHUMG00000169820 uc001tae.5 U31986 NM_006982 CCDS9028 Q15699 "8756334|7592751" MGI:104621 RGD:2273 601527 8553 311114 HGNC:1494 "ENST00000316824.4|NM_006982.3" HGNC:1494 +HGNC:449 ALX3 ALX homeobox 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 FND "aristaless-like homeobox 3|frontonasal dysplasia" PRD class homeoboxes and pseudogenes 521 1998-04-08 2008-11-04 2021-05-26 257 ENSG00000156150 OTTHUMG00000011650 uc001dzb.4 AF008203 NM_006492 CCDS819 O95076 "15226305|11807986|19409524" MGI:1277097 RGD:1359270 LRG_1265|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1265.xml 606014 8416 189330 HGNC:449 "ENST00000647563.2|NM_006492.3" HGNC:449 +HGNC:450 ALX4 ALX homeobox 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FPP|PFM|KIAA1788" PFM2 "parietal foramina 2|aristaless-like homeobox 4" PRD class homeoboxes and pseudogenes 521 2000-06-15 2008-11-04 2021-05-26 60529 ENSG00000052850 OTTHUMG00000166557 uc001myb.4 AF294629 NM_021926 CCDS31468 Q9H161 "11017806|8644736" MGI:108359 RGD:1310201 LRG_1256|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1256.xml 605420 8417 119647 HGNC:450 "ENST00000652299.1|NM_021926.4" HGNC:450 +HGNC:19071 ALYREF Aly/REF export factor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "ALY|BEF|ALY/REF|REF" THOC4 THO complex 4 "RNA binding motif containing|THO complex" "725|770" 2002-12-09 2011-12-12 2011-12-12 2018-05-03 10189 ENSG00000183684 OTTHUMG00000160470 uc002kbu.3 AF047002 NM_005782 CCDS32768 Q86V81 "11032328|15998806" MGI:1341044 RGD:1594679 604171 HGNC:19071 "ENST00000505490.3|NM_005782.4" +HGNC:451 AMACR alpha-methylacyl-CoA racemase protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "RACE|P504S" 1999-10-19 2021-05-26 23600 ENSG00000242110 OTTHUMG00000090734 uc003jig.4 AF047020 NM_014324 "CCDS54836|CCDS3903|CCDS3902" Q9UHK6 9307041 MGI:1098273 RGD:3048 604489 159633 5.1.99.4 HGNC:451 "ENST00000335606.11|NM_014324.6" HGNC:451 +HGNC:452 AMBN ameloblastin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 enamel matrix protein "ameloblastin, enamel matrix protein|ameloblastin (enamel matrix protein)" 1997-01-08 2015-11-09 2021-05-26 258 ENSG00000178522 OTTHUMG00000129913 uc003hfl.4 AF209780 NM_016519 CCDS3543 Q9NP70 9126491 MGI:104655 RGD:2101 601259 412643 HGNC:452 "ENST00000322937.10|NM_016519.6" HGNC:452 +HGNC:453 AMBP alpha-1-microglobulin/bikunin precursor protein-coding gene gene with protein product Approved 9q32 09q32 "UTI|HCP|EDC1|HI30|IATIL|ITILC" "growth-inhibiting protein 19|uristatin|complex-forming glycoprotein heterogeneous in charge|bikunin|inter-alpha-trypsin inhibitor light chain|protein HC|uronic-acid-rich protein|trypstatin" "ITI|ITIL" Lipocalins 631 1986-01-01 2020-09-17 259 ENSG00000106927 OTTHUMG00000020534 uc004bie.5 X04494 NM_001633 CCDS6800 P02760 "1708673|1385302" MGI:88002 RGD:2102 176870 LI02-001 ligandId:10359 HGNC:453 "ENST00000265132.8|NM_001633.4" +HGNC:25990 AMBRA1 autophagy and beclin 1 regulator 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ20294|KIAA1736|WDR94|DCAF3" "WD repeat domain 94|DDB1 and CUL4 associated factor 3" autophagy/beclin-1 regulator 1 "WD repeat domain containing|DDB1 and CUL4 associated factors|MicroRNA protein coding host genes" "362|498|1691" 2008-02-01 2016-04-28 2016-04-28 55626 ENSG00000110497 OTTHUMG00000166500 uc001ncu.3 AB051523 NM_017749 "CCDS58132|CCDS73281|CCDS31475" Q9C0C7 "17622796|17603510|17589504" MGI:2443564 RGD:621330 611359 HGNC:25990 "ENST00000683756.1|NM_001387011.1" +HGNC:457 AMD1 adenosylmethionine decarboxylase 1 protein-coding gene gene with protein product Approved 6q21 06q21 SAMDC S-adenosylmethionine decarboxylase 1 1990-07-03 2020-09-17 262 ENSG00000123505 OTTHUMG00000015369 uc011eay.3 M88006 NM_001287214 "CCDS75504|CCDS5086|CCDS75505" P17707 MGI:88004 RGD:2104 180980 objectId:1269 4.1.1.50 HGNC:457 "ENST00000368885.8|NM_001634.6" +HGNC:44898 AMD1P1 adenosylmethionine decarboxylase 1 pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p12.31 2012-12-12 2015-03-19 100133024 ENSG00000228339 OTTHUMG00000017782 NG_022164 PGOHUM00000290056 HGNC:44898 +HGNC:460 AMD1P2 adenosylmethionine decarboxylase 1 pseudogene 2 pseudogene pseudogene Approved Xq28 and Yq12 Xq28 and Yq12 "AMDPX|AMDPY" "AMD2|AMD|AMDP1" "S-adenosylmethionine decarboxylase pseudogene 1|adenosylmethionine decarboxylase pseudogene 1" Pseudoautosomal region 2 716 1988-08-31 2015-03-19 2015-03-19 2015-03-19 263 ENSG00000237801 OTTHUMG00000022673 U02035 NG_001073 7789170 PGOHUM00000304924 HGNC:460 +HGNC:51608 AMD1P3 adenosylmethionine decarboxylase 1 pseudogene 3 pseudogene pseudogene Approved 5p12 05p12 2015-03-19 2015-03-19 728931 ENSG00000249286 OTTHUMG00000162224 NG_023359 PGOHUM00000300576 HGNC:51608 +HGNC:51609 AMD1P4 adenosylmethionine decarboxylase 1 pseudogene 4 pseudogene pseudogene Approved 6p24.1 06p24.1 2015-03-19 2015-03-19 100129761 ENSG00000215124 OTTHUMG00000014262 NG_022294 PGOHUM00000301255 HGNC:51609 +HGNC:28577 AMDHD1 amidohydrolase domain containing 1 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 MGC35366 M38 metallopeptidases 1446 2006-01-17 2016-07-14 144193 ENSG00000139344 OTTHUMG00000170353 uc001tel.3 AB075878 NM_152435 CCDS9057 Q96NU7 MGI:1919011 RGD:1308879 M38.980 3.5.2.7 HGNC:28577 "ENST00000266736.7|NM_152435.3" +HGNC:24262 AMDHD2 amidohydrolase domain containing 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 CGI-14 N-acetylglucosamine-6-phosphate deacetylase 2006-02-20 2020-03-09 51005 ENSG00000162066 OTTHUMG00000128866 uc002cqq.4 AF132948 NM_015944 "CCDS81936|CCDS53984|CCDS10471" Q9Y303 10810093 MGI:2443978 RGD:1304601 3.5.1.25 HGNC:24262 "ENST00000293971.11|NM_001330449.2" +HGNC:461 AMELX amelogenin X-linked protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 amelogenesis imperfecta 1 "AMG|AIH1" amelogenin (X chromosome, amelogenesis imperfecta 1) 1988-05-11 2018-04-26 2021-05-26 265 ENSG00000125363 OTTHUMG00000021130 uc004cut.3 NM_001142 "CCDS14145|CCDS14146|CCDS14144" Q99217 1734713 MGI:88005 RGD:2107 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AMELX 300391 119653 HGNC:461 "ENST00000380714.7|NM_001142.2" HGNC:461 +HGNC:462 AMELY amelogenin Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 AMGL amelogenin (Y chromosome) 1988-08-31 2018-04-26 2020-09-17 266 ENSG00000099721 OTTHUMG00000035297 uc004fqz.3 M86933 NM_001143 CCDS14778 Q99218 2004775 MGI:88005 410000 HGNC:462 "ENST00000651267.2|NM_001143.2" +HGNC:26837 AMER1 APC membrane recruitment protein 1 protein-coding gene gene with protein product Approved Xq11.2 Xq11.2 "RP11-403E24.2|FLJ39827|WTX" "Wilms Tumor on the X|adenomatous polyposis coli membrane recruitment 1" FAM123B family with sequence similarity 123B APC membrane recruitment proteins 2002 2006-07-11 2012-12-03 2012-12-03 2021-05-26 139285 ENSG00000184675 OTTHUMG00000021703 uc004dvo.3 AK097146 NM_152424 CCDS14377 Q5JTC6 "21304492|21498506|20843316" MGI:1919595 RGD:1560322 LRG_1259|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1259.xml AMER1 300647 173515 HGNC:26837 "ENST00000374869.8|NM_152424.4" HGNC:26837 +HGNC:26360 AMER2 APC membrane recruitment protein 2 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 FLJ25477 FAM123A family with sequence similarity 123A APC membrane recruitment proteins 2002 2006-07-11 2012-12-03 2012-12-03 2015-08-24 219287 ENSG00000165566 OTTHUMG00000016602 uc001uqc.5 AK055049 NM_152704 "CCDS9312|CCDS53859" Q8N7J2 20843316 MGI:1919375 RGD:1559605 614659 HGNC:26360 "ENST00000515384.2|NM_152704.4" +HGNC:26771 AMER3 APC membrane recruitment protein 3 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 FLJ38377 FAM123C family with sequence similarity 123C APC membrane recruitment proteins 2002 2007-08-16 2012-12-03 2012-12-03 2014-11-18 205147 ENSG00000178171 OTTHUMG00000131637 uc010fmt.1 AK095696 NM_152698 CCDS2164 Q8N944 20843316 MGI:3026939 RGD:1560420 HGNC:26771 "ENST00000321420.5|NM_152698.3" +HGNC:463 AMFR autocrine motility factor receptor protein-coding gene gene with protein product Approved 16q13 16q13 "RNF45|gp78" Ring finger proteins 58 1994-01-10 2016-03-17 2020-09-17 267 ENSG00000159461 OTTHUMG00000133239 uc002eiy.4 L35233 NM_001144 CCDS10758 Q9UKV5 1649192 MGI:1345634 RGD:1311551 603243 HGNC:463 "ENST00000290649.10|NM_001144.6" +HGNC:464 AMH anti-Mullerian hormone protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MIS "Receptor ligands|MicroRNA protein coding host genes|Transforming growth factor beta superfamily" "542|1691|1932" 1986-01-01 2021-05-26 268 ENSG00000104899 OTTHUMG00000180415 uc002lvh.3 K03474 NM_000479 CCDS12085 P03971 "3754790|18784351" MGI:88006 RGD:2108 600957 119657 ligandId:6686 HGNC:464 "ENST00000221496.5|NM_000479.5" HGNC:464 +HGNC:465 AMHR2 anti-Mullerian hormone receptor type 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MISR2|MISRII" Muellerian inhibiting substance type II receptor anti-Mullerian hormone receptor type II Type 2 receptor serine/threonine kinases 346 1997-07-22 2016-04-27 2021-05-26 269 ENSG00000135409 OTTHUMG00000170048 uc001scx.2 AF172932 NM_020547 "CCDS8858|CCDS55829|CCDS53798" Q16671 7493017 MGI:105062 RGD:70964 600956 119660 objectId:1793 HGNC:465 "ENST00000257863.9|NM_020547.3" HGNC:465 +HGNC:20824 AMIGO1 adhesion molecule with Ig like domain 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "AMIGO|KIAA1163" amphoterin-induced gene and open reading frame V-set domain containing 590 2005-06-23 2016-07-04 2016-07-04 57463 ENSG00000181754 OTTHUMG00000011653 uc001dxx.5 NM_020703 CCDS30795 Q86WK6 12629050 MGI:2653612 RGD:1303079 615689 HGNC:20824 "ENST00000369864.5|NM_020703.4" +HGNC:24073 AMIGO2 adhesion molecule with Ig like domain 2 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "ALI1|DEGA" amphoterin-induced gene and open reading frame 2 Immunoglobulin like domain containing 594 2005-06-23 2016-07-04 2016-07-04 347902 ENSG00000139211 OTTHUMG00000169616 uc001rpk.4 NM_181847 CCDS8751 Q86SJ2 "12629050|12843293|15107827" MGI:2145995 RGD:727911 615690 HGNC:24073 "ENST00000550413.2|NM_001370299.1" HGNC:24073 +HGNC:24075 AMIGO3 adhesion molecule with Ig like domain 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 amphoterin-induced gene and open reading frame 3 Immunoglobulin like domain containing 594 2005-06-23 2016-07-04 2016-10-05 386724 ENSG00000176020 OTTHUMG00000158152 uc003cxj.4 NM_198722 CCDS33759 Q86WK7 "12629050|12975309" MGI:2444854 RGD:631413 615691 HGNC:24075 "ENST00000320431.8|NM_198722.3" +HGNC:466 AMLCR2 acute myeloid leukemia chromosome region 2 other region Approved 16q22 16q22 1999-12-15 2010-04-15 9163 9382098 +HGNC:467 AMMECR1 AMMECR nuclear protein 1 protein-coding gene gene with protein product Approved Xq23 Xq23 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 Small nucleolar RNA protein coding host genes 1835 1998-06-22 2019-08-22 2021-05-26 9949 ENSG00000101935 OTTHUMG00000022197 uc004eoo.4 AJ007014 NM_001025580 "CCDS55476|CCDS35368|CCDS14551" Q9Y4X0 "10049589|9480748|24646681" MGI:1860206 RGD:1561004 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AMMECR1 300195 119662 HGNC:467 "ENST00000262844.10|NM_015365.3" HGNC:467 +HGNC:41306 AMMECR1-IT1 AMMECR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xq23 Xq23 AMMECR1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874352 ENSG00000224142 OTTHUMG00000022194 uc065ars.1 AMMECR1-IT1 +HGNC:28658 AMMECR1L AMMECR1 like protein-coding gene gene with protein product Approved 2q14.3 02q14.3 MGC4268 "AMME chromosomal region gene 1-like|AMMECR1-like" 2007-01-26 2015-11-06 2016-10-05 83607 ENSG00000144233 OTTHUMG00000131535 uc002tpm.5 NM_031445 CCDS2152 Q6DCA0 MGI:2442711 RGD:1307915 HGNC:28658 "ENST00000272647.10|NM_001199140.2" +HGNC:39809 AMMECR1LP1 AMMECR1 like pseudogene 1 pseudogene pseudogene Approved 13q32.1 13q32.1 "AMME chromosomal region gene 1-like pseudogene 1|AMMECR1-like pseudogene 1" 2011-03-29 2015-11-11 2015-11-11 100420921 ENSG00000233273 OTTHUMG00000017231 NG_024945 PGOHUM00000248667 HGNC:39809 +HGNC:14604 AMN amnion associated transmembrane protein protein-coding gene gene with protein product Approved 14q32.32 14q32.32 amnionless amnionless homolog (mouse) 2002-12-03 2012-12-07 2021-04-13 81693 ENSG00000166126 OTTHUMG00000171897 uc001ymg.5 AF328788 NM_030943 CCDS9977 Q9BXJ7 11279523 MGI:1934943 RGD:1308634 LRG_642|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_642.xml 605799 138568 HGNC:14604 "ENST00000299155.10|NM_030943.4" HGNC:14604 +HGNC:27281 AMN1 antagonist of mitotic exit network 1 homolog protein-coding gene gene with protein product Approved 12p11.21 12p11.21 antagonist of mitotic exit network 1 homolog (S. cerevisiae) 2006-11-06 2015-07-02 2019-11-01 196394 ENSG00000151743 OTTHUMG00000169192 uc001rkq.4 NM_001113402 "CCDS61089|CCDS44858" Q8IY45 30273335 MGI:2442933 RGD:1308119 HGNC:27281 "ENST00000281471.11|NM_001113402.2" +HGNC:17810 AMOT angiomotin protein-coding gene gene with protein product Approved Xq23 Xq23 KIAA1071 MicroRNA protein coding host genes 1691 2002-01-24 2020-04-02 154796 ENSG00000126016 OTTHUMG00000022216 uc004eps.4 AB028994 NM_133265 "CCDS48154|CCDS14563" Q4VCS5 "11257124|16043488|12406577" MGI:108440 RGD:1564027 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AMOT 300410 HGNC:17810 "ENST00000371959.9|NM_001113490.2" +HGNC:17811 AMOTL1 angiomotin like 1 protein-coding gene gene with protein product Approved 11q21 11q21 JEAP junction-enriched and associated protein 2002-01-24 2015-10-15 154810 ENSG00000166025 OTTHUMG00000167828 uc001pfb.4 AF453742 NM_130847 "CCDS73368|CCDS44712" Q8IY63 11733531 MGI:1922973 RGD:1305268 614657 HGNC:17811 "ENST00000433060.3|NM_130847.3" +HGNC:17812 AMOTL2 angiomotin like 2 protein-coding gene gene with protein product Approved 3q22.2 03q22.2 LCCP "Leman coiled-coil protein|angiomotin-like protein 2" MicroRNA protein coding host genes 1691 2002-01-24 2016-10-05 51421 ENSG00000114019 OTTHUMG00000159777 uc003eqg.3 AF175966 NM_016201 "CCDS87138|CCDS63784|CCDS63783|CCDS33860" Q9Y2J4 MGI:1929286 RGD:70977 614658 HGNC:17812 "ENST00000249883.10|NM_016201.4" +HGNC:468 AMPD1 adenosine monophosphate deaminase 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "MAD|MADA" "AMPD isoform M|skeletal muscle AMPD|myoadenylate deaminase" adenosine monophosphate deaminase 1 (isoform M) Adenosine deaminase family 1302 1989-05-19 2010-02-10 2021-11-09 270 ENSG00000116748 OTTHUMG00000011892 uc001efe.3 M60092 NM_000036 CCDS53349 P23109 "1400401|1631143" MGI:88015 RGD:2109 102770 121344 3.5.4.6 HGNC:468 "ENST00000520113.7|NM_000036.3" HGNC:468 +HGNC:469 AMPD2 adenosine monophosphate deaminase 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 SPG63 AMPD isoform L adenosine monophosphate deaminase 2 (isoform L) Adenosine deaminase family 1302 1990-03-06 2010-02-10 2021-05-26 271 ENSG00000116337 OTTHUMG00000011649 uc001dyc.3 S47833 NM_001257361 "CCDS804|CCDS58016" Q01433 "1400401|24482476" MGI:88016 RGD:2110 102771 376557 3.5.4.6 HGNC:469 "ENST00000528667.7|NM_001368809.2" HGNC:469 +HGNC:470 AMPD3 adenosine monophosphate deaminase 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 erythrocyte-specific AMP deaminase adenosine monophosphate deaminase (isoform E) Adenosine deaminase family 1302 1993-02-17 2010-02-10 2021-05-26 272 ENSG00000133805 OTTHUMG00000165682 uc001mio.2 M84722 NM_000480 "CCDS41617|CCDS44537|CCDS53601|CCDS7802" Q01432 1400401 MGI:1096344 RGD:2111 102772 121350 3.5.4.6 HGNC:470 "ENST00000396553.7|NM_001025389.2" HGNC:470 +HGNC:471 AMPH amphiphysin protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)|amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)" N-BAR domain containing 1289 1994-12-12 2007-06-19 2020-09-17 273 ENSG00000078053 OTTHUMG00000023725 uc003tgu.4 NM_001635 "CCDS47574|CCDS5456" P49418 8245793 MGI:103574 RGD:620274 600418 HGNC:471 "ENST00000356264.7|NM_001635.4" +HGNC:473 AMT aminomethyltransferase protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "GCST|NKH" "glycine cleavage system protein T|nonketotic hyperglycinemia" aminomethyltransferase (glycine cleavage system protein T) Methyltransferase families 1398 1992-04-08 2006-05-22 2021-04-13 275 ENSG00000145020 OTTHUMG00000156847 uc003cww.4 D13811 NM_000481 "CCDS54584|CCDS54583|CCDS2797|CCDS54585" P48728 "1993704|8188235" MGI:3646700 RGD:1359408 LRG_537|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_537.xml 238310 121352 2.1.2.10 HGNC:473 "ENST00000273588.9|NM_000481.4" HGNC:473 +HGNC:33188 AMTN amelotin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "UNQ689|RSTI689" 2006-12-06 2014-11-18 401138 ENSG00000187689 OTTHUMG00000129906 uc003hfk.3 AY358528 NM_212557 "CCDS68716|CCDS3542" Q6UX39 16304441 MGI:1918671 RGD:1592356 610912 HGNC:33188 "ENST00000339336.9|NM_212557.4" HGNC:33188 +HGNC:474 AMY1A amylase alpha 1A protein-coding gene gene with protein product Approved 1p21.1 01p21.1 AMY1 "amylase, alpha 1A; salivary|amylase alpha 1A (salivary)" Amylases alpha 1648 2001-06-22 2019-07-03 2020-09-17 276 ENSG00000237763 OTTHUMG00000011020 uc001duv.4 NM_001008221 CCDS30782 P0DUB6 "MGI:104548|MGI:3711220|MGI:3711258|MGI:3714985|MGI:88019|MGI:88020" 104700 3.2.1.1 HGNC:474 "ENST00000370083.9|NM_004038.4" +HGNC:475 AMY1B amylase alpha 1B protein-coding gene gene with protein product Approved 1p21.1 01p21.1 AMY1 "amylase, alpha 1B; salivary|amylase alpha 1B (salivary)" Amylases alpha 1648 2001-06-22 2019-07-03 2020-09-17 277 ENSG00000174876 OTTHUMG00000011021 uc001dux.2 NM_001008218 CCDS30783 P0DTE7 "MGI:104548|MGI:3711220|MGI:3711258|MGI:3714985|MGI:88019|MGI:88020" 104701 3.2.1.1 HGNC:475 "ENST00000330330.10|NM_001008218.2" +HGNC:476 AMY1C amylase alpha 1C protein-coding gene gene with protein product Approved 1p21.1 01p21.1 AMY1 "amylase, alpha 1C; salivary|amylase alpha 1C (salivary)" Amylases alpha 1648 2001-06-22 2019-07-03 2020-09-17 278 ENSG00000187733 OTTHUMG00000011045 uc057itq.1 NM_001008219 CCDS30784 P0DTE8 "MGI:104548|MGI:3711220|MGI:3711258|MGI:3714985|MGI:88019|MGI:88020" 104702 3.2.1.1 HGNC:476 "ENST00000622339.5|NM_001008219.3" +HGNC:477 AMY2A amylase alpha 2A protein-coding gene gene with protein product Approved 1p21.1 01p21.1 AMY2 "amylase, alpha 2A; pancreatic|amylase alpha 2A (pancreatic)" Amylases alpha 1648 2001-06-22 2019-07-03 2020-09-17 279 ENSG00000243480 OTTHUMG00000011023 uc057itg.1 BC007060 NM_000699 CCDS783 P04746 3260028 "MGI:104548|MGI:3711220|MGI:3711258|MGI:3714985|MGI:88019|MGI:88020" 104650 objectId:2596 3.2.1.1 HGNC:477 "ENST00000414303.7|NM_000699.4" +HGNC:478 AMY2B amylase alpha 2B protein-coding gene gene with protein product Approved 1p21.1 01p21.1 AMY2 "amylase, alpha 2B; pancreatic|amylase alpha 2B (pancreatic)" Amylases alpha 1648 1988-08-19 2019-07-03 2020-09-17 280 ENSG00000240038 OTTHUMG00000011024 uc001duq.5 M24895 NM_020978 CCDS782 P19961 8268204 "MGI:104548|MGI:3711220|MGI:3711258|MGI:3714985|MGI:88019|MGI:88020" RGD:2113 104660 3.2.1.1 HGNC:478 "ENST00000684275.1|NM_001387437.1" +HGNC:479 AMYP1 amylase alpha pseudogene 1 pseudogene pseudogene Approved 1p21.1 01p21.1 AMY2P Amylases alpha 1648 2001-06-22 2019-01-18 2019-01-18 281 ENSG00000227408 OTTHUMG00000011044 NG_004750 PGOHUM00000244824 HGNC:479 +HGNC:22231 AMZ1 archaelysin family metallopeptidase 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 KIAA1950 archaemetzincin-1 M54 metallopeptidase family 2107 2008-01-17 2014-11-19 155185 ENSG00000174945 OTTHUMG00000152111 uc003smr.3 AB075830 NM_133463 "CCDS34589|CCDS64582" Q400G9 15972818 MGI:2442258 RGD:1311314 615168 M54.003 HGNC:22231 "ENST00000683327.1|NM_001384743.1" +HGNC:28041 AMZ2 archaelysin family metallopeptidase 2 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 archaemetzincin-2 M54 metallopeptidase family 2107 2008-01-17 2016-12-12 51321 ENSG00000196704 OTTHUMG00000179802 uc002jgv.2 CR609550 NM_016627 "CCDS11674|CCDS32714" Q86W34 15972818 MGI:104837 RGD:1304846 615169 M54.002 HGNC:28041 "ENST00000359904.8|NM_016627.5" +HGNC:26491 AMZ2P1 AMZ2 pseudogene 1 pseudogene pseudogene Approved 17q24.1 17q24.1 FLJ32065 archaelysin family metallopeptidase 2 pseudogene 1 2010-04-08 2021-03-25 2021-10-07 201283 ENSG00000214174 OTTHUMG00000132075 AK056627 NR_026903 PGOHUM00000262965 HGNC:26491 +HGNC:38072 AMZ2P2 AMZ2 pseudogene 2 pseudogene pseudogene Approved 6q25.3 06q25.3 archaelysin family metallopeptidase 2 pseudogene 2 2010-04-08 2021-03-25 2021-03-25 100421018 ENSG00000219249 OTTHUMG00000015914 NG_022335 PGOHUM00000243433 HGNC:38072 +HGNC:54911 AMZ2P3 AMZ2 pseudogene 3 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-04-24 100128929 ENSG00000233807 NG_022586 +HGNC:19988 ANAPC1 anaphase promoting complex subunit 1 protein-coding gene gene with protein product Approved 2q13 02q13 "MCPR|TSG24|APC1" "Anaphase promoting complex |MicroRNA protein coding host genes" "402|1691" 2004-01-13 2021-05-26 64682 ENSG00000153107 OTTHUMG00000131277 uc002thi.4 AJ278357 NM_022662 CCDS2093 Q9H1A4 11179667 MGI:103097 RGD:1306629 608473 HGNC:19988 "ENST00000341068.8|NM_022662.4" HGNC:19988 +HGNC:44150 ANAPC1P1 ANAPC1 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 anaphase promoting complex subunit 1 pseudogene 1 2012-06-30 2021-03-25 2021-03-25 100286979 ENSG00000233673 OTTHUMG00000153325 NR_037931 HGNC:44150 +HGNC:54708 ANAPC1P2 ANAPC1 pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-06 2020-01-21 285074 ENSG00000231259 OTTHUMG00000153315 NR_026846 PGOHUM00000297949 +HGNC:54709 ANAPC1P3 ANAPC1 pseudogene 3 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-06 2020-01-21 100420889 ENSG00000230395 OTTHUMG00000153250 NG_023580 PGOHUM00000297951 +HGNC:54710 ANAPC1P4 ANAPC1 pseudogene 4 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-06 2020-01-21 730268 ENSG00000234231 OTTHUMG00000153245 NR_160651 PGOHUM00000298505 +HGNC:54711 ANAPC1P5 ANAPC1 pseudogene 5 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-06 2020-01-21 100420890 ENSG00000275597 OTTHUMG00000187608 NG_023582 PGOHUM00000297955 +HGNC:54712 ANAPC1P6 ANAPC1 pseudogene 6 pseudogene pseudogene Approved 2q12.2 02q12.2 2019-12-06 2020-01-21 402096 ENSG00000235486 OTTHUMG00000153179 NR_157576 PGOHUM00000298605 +HGNC:19989 ANAPC2 anaphase promoting complex subunit 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "APC2|KIAA1406" Anaphase promoting complex 402 2004-01-06 2015-08-24 29882 ENSG00000176248 OTTHUMG00000020983 uc004clr.2 AB037827 NM_013366 CCDS7033 Q9UJX6 11739784 MGI:2139135 RGD:1305546 606946 HGNC:19989 "ENST00000323927.3|NM_013366.4" +HGNC:19990 ANAPC4 anaphase promoting complex subunit 4 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 APC4 Anaphase promoting complex 402 2004-01-13 2016-10-05 29945 ENSG00000053900 OTTHUMG00000097753 uc003gro.4 AF191338 NM_013367 "CCDS3434|CCDS68684" Q9UJX5 6180011 MGI:1098673 RGD:1306572 606947 HGNC:19990 "ENST00000315368.8|NM_013367.3" +HGNC:15713 ANAPC5 anaphase promoting complex subunit 5 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 APC5 Anaphase promoting complex 402 2001-06-01 2021-11-09 51433 ENSG00000089053 OTTHUMG00000169157 uc001uag.4 AF191339 NM_001137559 "CCDS81749|CCDS45000|CCDS9220" Q9UJX4 9469815 MGI:1929722 RGD:1306125 606948 HGNC:15713 "ENST00000261819.8|NM_016237.5" HGNC:15713 +HGNC:17380 ANAPC7 anaphase promoting complex subunit 7 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 APC7 "Anaphase promoting complex |Tetratricopeptide repeat domain containing" "402|769" 2004-01-13 2016-10-05 51434 ENSG00000196510 OTTHUMG00000157009 uc001tqo.2 AF191340 NM_016238 "CCDS9145|CCDS44971" Q9UJX3 MGI:1929711 RGD:1311927 606949 HGNC:17380 "ENST00000455511.9|NM_016238.3" +HGNC:24077 ANAPC10 anaphase promoting complex subunit 10 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "APC10|DOC1|DKFZP564L0562" Anaphase promoting complex 402 2004-05-21 2016-10-05 10393 ENSG00000164162 OTTHUMG00000161477 uc031shp.1 AF132794 NM_014885 CCDS43273 Q9UM13 "10318877|11230166" MGI:1916249 RGD:1308936 613745 HGNC:24077 "ENST00000507656.6|NM_001256706.2" +HGNC:33976 ANAPC10P1 anaphase promoting complex subunit 10 pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 ANAPC10P anaphase promoting complex subunit 10 pseudogene 2008-01-31 2010-03-24 2010-03-24 2014-11-18 729198 ENSG00000213735 OTTHUMG00000008062 NG_007660 PGOHUM00000244720 HGNC:33976 +HGNC:14452 ANAPC11 anaphase promoting complex subunit 11 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "HSPC214|APC11|Apc11p|MGC882" anaphase promoting complex subunit 11 (yeast APC11 homolog) "Ring finger proteins|Anaphase promoting complex " "58|402" 2001-03-08 2008-10-30 2018-05-24 51529 ENSG00000141552 OTTHUMG00000177982 uc032fte.2 AF247565 NM_016476 "CCDS32769|CCDS11789" Q9NYG5 "10922056|25825779" MGI:1913406 RGD:1561880 614534 HGNC:14452 "ENST00000344877.10|NM_001002248.3" +HGNC:24540 ANAPC13 anaphase promoting complex subunit 13 protein-coding gene gene with protein product Approved 3q22.2 03q22.2 "SWM1|APC13|DKFZP566D193" Anaphase promoting complex 402 2004-05-24 2016-10-04 25847 ENSG00000129055 OTTHUMG00000159803 uc062obl.1 AF086169 NM_015391 CCDS3085 Q9BS18 15060174 MGI:1916260 RGD:1583270 614484 HGNC:24540 "ENST00000354910.10|NM_015391.4" +HGNC:24531 ANAPC15 anaphase promoting complex subunit 15 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "HSPC020|DKFZP564M082|APC15" C11orf51 chromosome 11 open reading frame 51 Anaphase promoting complex 402 2006-02-06 2012-05-31 2012-05-31 2015-09-11 25906 ENSG00000110200 OTTHUMG00000167865 uc001orw.4 AL080071 NM_014042 "CCDS8210|CCDS60880|CCDS81593" P60006 21926987 MGI:1922680 RGD:1311634 614717 HGNC:24531 "ENST00000227618.9|NM_014042.3" +HGNC:54888 ANAPC15P1 ANAPC15 pseudogene 1 pseudogene pseudogene Approved Xp22.31 Xp22.31 2020-04-17 2020-04-17 100128808 ENSG00000231619 NG_030154 +HGNC:54889 ANAPC15P2 ANAPC15 pseudogene 2 pseudogene pseudogene Approved 3q26.31 03q26.31 2020-04-17 2020-04-17 117751731 ENSG00000232601 NG_079071 +HGNC:26976 ANAPC16 anaphase promoting complex subunit 16 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "bA570G20.3|FLJ33728|APC16|CENP-27" centromere protein 27 C10orf104 chromosome 10 open reading frame 104 Anaphase promoting complex 402 2004-04-16 2010-04-06 2010-04-06 2016-10-05 119504 ENSG00000166295 OTTHUMG00000018433 uc001jsw.4 BC009530 NM_173473 "CCDS73147|CCDS7314" Q96DE5 "14702039|20360068" MGI:1289325 RGD:2321124 613427 HGNC:26976 "ENST00000299381.5|NM_173473.4" +HGNC:482 ANCR Angelman syndrome chromosome region other region Approved 15q11-q12 15q11-q12 1989-05-01 2019-10-10 282 9894799 +HGNC:483 ANG angiogenin protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "RNASE5|RAA1" ribonuclease A family member 5 angiogenin, ribonuclease, RNase A family, 5 "Ribonuclease A family|Endoribonucleases" "723|1687" 1989-05-23 2016-05-03 2021-04-13 283 ENSG00000214274 OTTHUMG00000029576 uc001vxw.4 NM_001097577 CCDS9554 P03950 1978563 MGI:88022 RGD:1594539 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_653|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_653.xml" 105850 159700 3.1.27.- HGNC:483 "ENST00000397990.5|NM_001097577.3" HGNC:483 +HGNC:19961 ANGEL1 angel homolog 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 Ccr4e KIAA0759 angel homolog 1 (Drosophila) 2003-11-21 2005-08-04 2016-06-29 2016-06-29 23357 ENSG00000013523 OTTHUMG00000171494 uc001xsv.4 AF111169 NM_015305 CCDS9852 Q9UNK9 11943475 MGI:1915987 RGD:1306238 619537 HGNC:19961 "ENST00000251089.8|NM_015305.4" +HGNC:30534 ANGEL2 angel homolog 2 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "KIAA0759L|FLJ12793|Ccr4d" angel homolog 2 (Drosophila) 2005-08-04 2016-06-29 2020-08-03 90806 ENSG00000174606 OTTHUMG00000036927 uc001hjz.3 AL079275 NM_144567 "CCDS1512|CCDS73027" Q5VTE6 "11943475|32732418" MGI:1196310 RGD:1305056 619001 HGNC:30534 "ENST00000366962.8|NM_144567.5" +HGNC:484 ANGPT1 angiopoietin 1 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "KIAA0003|Ang1|AGPT-1" "Receptor ligands|Fibrinogen C domain containing" "542|554" 1997-04-10 2022-04-06 284 ENSG00000154188 OTTHUMG00000164812 uc003ymn.4 D13628 "NM_001146|NM_139290" "CCDS6306|CCDS83313|CCDS56551" Q15389 9545648 MGI:108448 RGD:628896 601667 ligandId:4867 HGNC:484 "ENST00000517746.6|NM_001146.5" HGNC:484 +HGNC:485 ANGPT2 angiopoietin 2 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 Ang2 "Receptor ligands|Fibrinogen C domain containing" "542|554" 1997-07-22 2020-09-17 285 ENSG00000091879 OTTHUMG00000090365 uc003wqj.6 AF004327 NM_001147 "CCDS5958|CCDS47762|CCDS47761" O15123 9545648 MGI:1202890 RGD:621861 601922 ligandId:5316 HGNC:485 "ENST00000629816.3|NM_001118887.2" +HGNC:487 ANGPT4 angiopoietin 4 protein-coding gene gene with protein product Approved 20p13 20p13 "Receptor ligands|Fibrinogen C domain containing" "542|554" 1999-01-28 2020-09-17 51378 ENSG00000101280 OTTHUMG00000031652 uc002wei.4 AF074332 NM_015985 CCDS13009 Q9Y264 "10051567|10218486" MGI:1336887 RGD:1307539 603705 ligandId:4868 HGNC:487 "ENST00000381922.5|NM_015985.4" +HGNC:489 ANGPTL1 angiopoietin like 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "ANG3|AngY|ARP1" angioarrestin ANGPT3 angiopoietin-like 1 "Receptor ligands|Fibrinogen C domain containing|Angiopoietin like family" "542|554|905" 2000-02-07 2015-11-11 2020-09-17 9068 ENSG00000116194 OTTHUMG00000035075 uc001gma.4 AF107253 NM_004673 CCDS1327 O95841 "10025962|9286704" MGI:1919963 RGD:1598128 603874 ligandId:5317 HGNC:489 "ENST00000234816.7|NM_004673.4" +HGNC:490 ANGPTL2 angiopoietin like 2 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "ARP2|HARP" angiopoietin-like 2 "Fibrinogen C domain containing|Angiopoietin like family" "554|905" 2000-02-07 2015-11-11 2020-09-17 23452 ENSG00000136859 OTTHUMG00000020695 uc004bqr.2 AF125175 NM_012098 CCDS6868 Q9UKU9 10473614 MGI:1347002 RGD:620004 605001 HGNC:490 "ENST00000373425.8|NM_012098.3" +HGNC:491 ANGPTL3 angiopoietin like 3 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 angiopoietin 5 ANGPT5 angiopoietin-like 3 "Receptor ligands|Fibrinogen C domain containing|Angiopoietin like family" "542|554|905" 2000-02-07 2015-11-11 2021-05-26 27329 ENSG00000132855 OTTHUMG00000009146 uc001das.3 AF152562 NM_014495 CCDS622 Q9Y5C1 10644446 MGI:1353627 RGD:1564505 604774 247151 ligandId:8716 HGNC:491 "ENST00000371129.4|NM_014495.4" HGNC:491 +HGNC:16039 ANGPTL4 angiopoietin like 4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "pp1158|PGAR|ARP4|HFARP|FIAF|NL2" "fasting-induced adipose factor|hepatic angiopoietin-related protein|PPARG angiopoietin related protein|hepatic fibrinogen/angiopoietin-related protein|peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein|angiopoietin-related protein 4" angiopoietin-like 4 "Fibrinogen C domain containing|Angiopoietin like family" "554|905" 2001-07-18 2015-11-11 2016-10-04 51129 ENSG00000167772 OTTHUMG00000182273 uc002mjq.3 AF202636 NM_139314 "CCDS12200|CCDS42493" Q9BY76 "10698685|10866690|23960078" MGI:1888999 RGD:735058 605910 HGNC:16039 "ENST00000301455.7|NM_139314.3" +HGNC:19705 ANGPTL5 angiopoietin like 5 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 angiopoietin-like 5 "Fibrinogen C domain containing|Angiopoietin like family" "554|905" 2002-11-13 2015-11-11 2016-10-04 253935 ENSG00000187151 OTTHUMG00000167318 uc001pgl.3 BC049170 NM_178127 CCDS8312 Q86XS5 12624729 607666 HGNC:19705 "ENST00000334289.7|NM_178127.5" +HGNC:23140 ANGPTL6 angiopoietin like 6 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "ARP5|AGF" angiopoietin-related protein 5 angiopoietin-like 6 "Fibrinogen C domain containing|Angiopoietin like family" "554|905" 2003-09-24 2015-11-11 2021-05-26 83854 ENSG00000130812 OTTHUMG00000180395 uc002mmy.2 AB054064 NM_031917 CCDS12224 Q8NI99 12871997 MGI:1917976 RGD:1311141 609336 HGNC:23140 "ENST00000253109.5|NM_031917.3" HGNC:23140 +HGNC:24078 ANGPTL7 angiopoietin like 7 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "CDT6|AngX" angiopoietin-like 7 "Receptor ligands|Fibrinogen C domain containing|Angiopoietin like family" "542|554|905" 2005-01-07 2015-11-11 2016-10-05 10218 ENSG00000171819 OTTHUMG00000002002 uc001ase.5 Y16132 NM_021146 CCDS128 O43827 "9727400|11682471" MGI:3605801 RGD:7553363 618517 ligandId:5321 HGNC:24078 "ENST00000376819.4|NM_021146.4" +HGNC:24933 ANGPTL8 angiopoietin like 8 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TD26|RIFL" "lipasin|betatrophin" C19orf80 "chromosome 19 open reading frame 80|angiopoietin-like 8" Angiopoietin like family 905 2011-08-04 2015-10-23 2015-11-11 2015-11-11 55908 ENSG00000130173 uc021upf.2 NM_018687 CCDS54220 Q6UXH0 "22809513|23150577|24262987" MGI:3643534 RGD:2320121 616223 HGNC:24933 "ENST00000252453.12|NM_018687.7" +HGNC:40024 ANHX anomalous homeobox protein-coding gene gene with protein product Approved 12q24.33 12q24.33 2012-05-18 2012-05-18 647589 ENSG00000227059 OTTHUMG00000167949 uc058vpf.1 NM_001191054 CCDS53855 E9PGG2 HGNC:40024 "ENST00000545940.6|NM_001372060.1" +HGNC:492 ANK1 ankyrin 1 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 SPH1 ANK ankyrin 1, erythrocytic "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 1989-06-06 2015-11-20 2021-05-26 286 ENSG00000029534 OTTHUMG00000150281 uc003xom.4 M28880 NM_020475 "CCDS6119|CCDS6120|CCDS47849|CCDS6121|CCDS55227|CCDS6122" P16157 1689849 MGI:88024 RGD:1309620 612641 121356 HGNC:492 "ENST00000289734.13|NM_000037.4" HGNC:492 +HGNC:493 ANK2 ankyrin 2 protein-coding gene gene with protein product Approved 4q25-q26 04q25-q26 "FAP87|CFAP87" LQT4 "long (electrocardiographic) QT syndrome 4|ankyrin 2, neuronal" "Ankyrin repeat domain containing|Cilia and flagella associated|MicroRNA protein coding host genes" "403|1491|1691" 1991-06-04 2016-08-11 2021-05-26 287 ENSG00000145362 OTTHUMG00000132912 uc062zcy.1 M37123 NM_001148 "CCDS43261|CCDS87250|CCDS54796|CCDS3702" Q01484 "7485162|12571597" MGI:88025 RGD:620156 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|ANK2 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=ANK2|LRG_327|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_327.xml" 106410 121360 HGNC:493 "ENST00000357077.9|NM_001148.6" HGNC:493 +HGNC:40076 ANK2-AS1 ANK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q25 04q25 Antisense RNAs 1987 2019-07-19 2019-07-19 105377373 ENSG00000248152 OTTHUMG00000161562 XR_001741419 HGNC:40076 +HGNC:494 ANK3 ankyrin 3 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "ankyrin-3, node of Ranvier|ankyrin-G" ankyrin 3, node of Ranvier (ankyrin G) Ankyrin repeat domain containing 403 1994-11-22 2016-08-11 2021-05-26 288 ENSG00000151150 OTTHUMG00000018288 uc001jky.4 U13616 NM_020987 "CCDS55711|CCDS7259|CCDS7258|CCDS55712" Q12955 7665168 MGI:88026 RGD:620157 600465 358448 HGNC:494 "ENST00000280772.7|NM_020987.5" HGNC:494 +HGNC:54102 ANK3-DT ANK3 divergent transcript non-coding RNA RNA, long non-coding Approved 10q21.2 10q21.2 Divergent transcripts 1990 2018-11-29 2018-11-29 105378320 ENSG00000254271 XR_001747686 HGNC:54102 +HGNC:26350 ANKAR ankyrin and armadillo repeat containing protein-coding gene gene with protein product Approved 2q32.2 02q32.2 FLJ25415 "Ankyrin repeat domain containing|Armadillo repeat containing" "403|409" 2006-07-12 2016-04-25 150709 ENSG00000151687 OTTHUMG00000154398 uc002uqw.3 AJ549812 NM_144708 CCDS33351 Q7Z5J8 15110750 MGI:2442559 RGD:1561071 609803 HGNC:26350 "ENST00000684021.1|NM_001378068.1" +HGNC:28002 ANKDD1A ankyrin repeat and death domain containing 1A protein-coding gene gene with protein product Approved 15q22.31 15q22.31 FLJ25870 Ankyrin repeat domain containing 403 2006-02-16 2006-02-16 2019-02-18 348094 ENSG00000166839 OTTHUMG00000133051 uc032chd.2 NM_182703 CCDS10197 Q495B1 30082910 MGI:2686319 RGD:1586052 HGNC:28002 "ENST00000319580.13|NM_182703.6" +HGNC:32525 ANKDD1B ankyrin repeat and death domain containing 1B protein-coding gene gene with protein product Approved 5q13.3 05q13.3 Ankyrin repeat domain containing 403 2006-02-16 2006-02-16 2020-04-20 728780 ENSG00000189045 OTTHUMG00000162490 uc031ski.2 NM_001276713 CCDS64180 A6NHY2 MGI:2444730 RGD:2325067 HGNC:32525 "ENST00000601380.4|NM_001276713.2" HGNC:32525 +HGNC:15803 ANKEF1 ankyrin repeat and EF-hand domain containing 1 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "FLJ21669|dJ839B4.6" ANKRD5 ankyrin repeat domain 5 "Ankyrin repeat domain containing|EF-hand domain containing" "403|863" 2001-09-17 2013-01-11 2013-01-11 2014-11-19 63926 ENSG00000132623 OTTHUMG00000031860 uc002wnp.4 AK025322 NM_022096 CCDS13108 Q9NU02 17142250 MGI:2441685 RGD:1304809 HGNC:15803 "ENST00000378392.6|NM_022096.6" +HGNC:26766 ANKFN1 ankyrin repeat and fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 17q22 17q22 FLJ38335 "Ankyrin repeat domain containing|Fibronectin type III domain containing" "403|555" 2005-11-15 2015-12-17 2016-10-05 162282 ENSG00000153930 OTTHUMG00000155010 uc002iun.1 AK095654 NM_153228 CCDS32686 Q8N957 MGI:2686021 RGD:7736477 HGNC:26766 "ENST00000682825.1|NM_001370326.1" +HGNC:20763 ANKFY1 ankyrin repeat and FYVE domain containing 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "ANKHZN|KIAA1255|ZFYVE14|BTBD23|RANK-5" rabankyrin-5 "Zinc fingers FYVE-type|Ankyrin repeat domain containing|BTB domain containing" "81|403|861" 2003-04-29 2018-05-03 51479 ENSG00000185722 OTTHUMG00000177727 uc059zsj.1 AB033081 NM_016376 "CCDS42236|CCDS82038|CCDS58502" Q9P2R3 "10940552|17273843" MGI:1337008 RGD:1309598 607927 HGNC:20763 "ENST00000341657.9|NM_001330063.2" HGNC:20763 +HGNC:15492 ANKH ANKH inorganic pyrophosphate transport regulator protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "HANK|ANK|CPPDD|SLC62A1" "CCAL2|CMDJ" "ankylosis, progressive (mouse) homolog|craniometaphyseal dysplasia, Jackson type (dominant)|ankylosis, progressive homolog (mouse)" "Solute carriers|MicroRNA protein coding host genes" "752|1691" 2001-04-05 2013-06-19 2021-04-13 56172 ENSG00000154122 OTTHUMG00000090539 uc003jfm.5 AF274753 NM_054027 CCDS3885 Q9HCJ1 "10894769|12297989|11326338" MGI:3045421 RGD:619925 LRG_1362|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1362.xml 605145 121363 objectId:3046 HGNC:15492 "ENST00000284268.8|NM_054027.6" HGNC:15492 +HGNC:55234 ANKH-DT ANKH divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 Divergent transcripts 1990 2020-09-16 2020-09-16 118597842 ENSG00000272057 +HGNC:24714 ANKHD1 ankyrin repeat and KH domain containing 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "MASK|FLJ20288|FLJ11979|FLJ10042|FLJ14127|KIAA1085|MASK1" Ankyrin repeat domain containing 403 2004-04-16 2015-03-24 54882 ENSG00000131503 OTTHUMG00000161610 uc003lfr.3 AF521882 NM_017747 "CCDS75319|CCDS4225|CCDS43371|CCDS43372" Q8IWZ3 "10470851|11230166|16098192" MGI:1921733 RGD:4892133 610500 HGNC:24714 "ENST00000360839.7|NM_017747.3" +HGNC:55564 ANKHD1-DT ANKHD1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 Divergent transcripts 1990 2021-04-14 2021-04-14 121232368 ENSG00000249637 +HGNC:33530 ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough other readthrough Approved 5q31.3 05q31.3 MASK-BP3 2007-07-31 2014-11-19 404734 ENSG00000254996 OTTHUMG00000166212 uc003lfs.3 AF521883 NM_020690 CCDS4224 "16297570|14557257" MGI:1921733 HGNC:33530 +HGNC:22215 ANKIB1 ankyrin repeat and IBR domain containing 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "DKFZP434A0225|KIAA1386" "Ankyrin repeat domain containing|RBR E3 ubiquitin ligases" "403|1391" 2004-03-02 2016-10-05 54467 ENSG00000001629 OTTHUMG00000155859 uc003ulw.2 AB037807 NM_019004 CCDS47639 Q9P2G1 MGI:1918047 RGD:1597088 HGNC:22215 "ENST00000265742.8|NM_019004.2" +HGNC:21027 ANKK1 ankyrin repeat and kinase domain containing 1 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 X-kinase Ankyrin repeat domain containing 403 2003-05-13 2013-01-10 255239 ENSG00000170209 OTTHUMG00000167715 uc001pny.3 AJ541797 NM_178510 CCDS44734 Q8NFD2 15146457 MGI:3045301 RGD:1305538 608774 objectId:1932 HGNC:21027 "ENST00000303941.4|NM_178510.2" +HGNC:26812 ANKLE1 ankyrin repeat and LEM domain containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ39369|LEMD6" LEM domain containing 6 ANKRD41 ankyrin repeat domain 41 "Ankyrin repeat domain containing|LEM domain containing" "403|1087" 2005-05-29 2008-03-25 2008-03-25 2022-04-06 126549 ENSG00000160117 OTTHUMG00000150839 uc002nga.3 AK096688 NM_152363 CCDS12354 Q8NAG6 "22399800|32866453" MGI:1918775 RGD:1308184 619348 HGNC:26812 "ENST00000404085.7|NM_152363.6" +HGNC:29101 ANKLE2 ankyrin repeat and LEM domain containing 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "LEMD7|Lem4" "LEM domain containing 7|LEM-domain protein 4" KIAA0692 KIAA0692 "Ankyrin repeat domain containing|LEM domain containing" "403|1087" 2006-01-17 2008-03-25 2008-03-25 2022-04-06 23141 ENSG00000176915 OTTHUMG00000168046 uc001ukx.3 AB014592 NM_015114 CCDS41869 Q86XL3 "9734811|31735666" MGI:1261856 RGD:1310191 616062 445103 HGNC:29101 "ENST00000357997.10|NM_015114.3" HGNC:29101 +HGNC:20987 ANKMY1 ankyrin repeat and MYND domain containing 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ20499|ZMYND13" "Zinc fingers MYND-type|Ankyrin repeat domain containing" "87|403" 2003-04-29 2014-11-18 51281 ENSG00000144504 OTTHUMG00000133355 uc002vyz.3 AB034636 NM_017844 "CCDS86929|CCDS74681|CCDS2535|CCDS63184|CCDS2536|CCDS63185" Q9P2S6 MGI:3045261 RGD:1595229 HGNC:20987 "ENST00000401804.6|NM_001282771.3" +HGNC:25370 ANKMY2 ankyrin repeat and MYND domain containing 2 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "DKFZP564O043|ZMYND20" "Zinc fingers MYND-type|Ankyrin repeat domain containing" "87|403" 2004-03-05 2015-04-21 57037 ENSG00000106524 OTTHUMG00000090806 uc003sti.3 AK001740 NM_020319 CCDS5361 Q8IV38 25077969 MGI:2144755 RGD:1306017 HGNC:25370 "ENST00000306999.7|NM_020319.3" +HGNC:13208 ANKRA2 ankyrin repeat family A member 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 ankyrin repeat, family A (RFXANK-like), 2 Ankyrin repeat domain containing 403 2000-09-19 2016-01-06 2016-10-05 57763 ENSG00000164331 OTTHUMG00000102030 uc003kcu.3 AA442702 NM_023039 CCDS4020 Q9H9E1 10965114 MGI:1915808 RGD:1303108 605787 HGNC:13208 "ENST00000296785.8|NM_023039.5" +HGNC:15819 ANKRD1 ankyrin repeat domain 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "C-193|ALRP|CARP|CVARP|MCARP" ankyrin repeat domain 1 (cardiac muscle) Ankyrin repeat domain containing 403 2003-11-10 2016-02-01 2021-05-26 27063 ENSG00000148677 OTTHUMG00000018734 uc001khe.2 X83703 NM_014391 CCDS7412 Q15327 7730328 MGI:1097717 RGD:61989 LRG_379|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_379.xml 609599 448317 HGNC:15819 "ENST00000371697.4|NM_014391.3" HGNC:15819 +HGNC:495 ANKRD2 ankyrin repeat domain 2 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 ARPP ankyrin repeat domain 2 (stretch responsive muscle) Ankyrin repeat domain containing 403 1999-11-19 2016-02-01 2020-09-17 26287 ENSG00000165887 OTTHUMG00000018860 uc001knw.5 AJ304805 NM_001129981 "CCDS86134|CCDS86133|CCDS44468|CCDS7466" Q9GZV1 "10873377|15136035|15677738" MGI:1861447 RGD:1305104 610734 HGNC:495 "ENST00000370655.6|NM_001346793.2" +HGNC:17280 ANKRD6 ankyrin repeat domain 6 protein-coding gene gene with protein product Approved 6q15 06q15 KIAA0957 "diversin|diego homolog (Drosophila)" Ankyrin repeat domain containing 403 2001-12-13 2016-01-15 22881 ENSG00000135299 OTTHUMG00000015202 uc003pni.5 AB023174 NM_001242809 "CCDS56442|CCDS56443|CCDS56441|CCDS47460" Q9Y2G4 25218921 MGI:2154278 RGD:1583731 610583 HGNC:17280 "ENST00000339746.9|NM_001242809.2" +HGNC:18588 ANKRD7 ankyrin repeat domain 7 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 TSA806 testis-specific ankyrin motif containing protein Ankyrin repeat domain containing 403 2002-07-22 2018-05-03 56311 ENSG00000106013 OTTHUMG00000156960 uc064hlc.2 D78334 NM_001077708 CCDS43638 Q92527 8812458 MGI:1922446 RGD:1564660 610731 HGNC:18588 "ENST00000265224.9|NM_019644.4" +HGNC:20096 ANKRD9 ankyrin repeat domain 9 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 Ankyrin repeat domain containing 403 2002-12-18 2015-10-15 122416 ENSG00000156381 OTTHUMG00000171777 uc001ylz.2 BC015422 NM_001348651 CCDS9973 Q96BM1 MGI:1921501 RGD:1307662 618605 HGNC:20096 "ENST00000286918.9|NM_152326.4" +HGNC:20265 ANKRD10 ankyrin repeat domain 10 protein-coding gene gene with protein product Approved 13q34 13q34 FLJ20093 Ankyrin repeat domain containing 403 2003-01-16 2016-10-05 55608 ENSG00000088448 OTTHUMG00000017349 uc001vrn.5 AK000100 NM_001286721 "CCDS66580|CCDS9520" Q9NXR5 MGI:1921840 RGD:1310501 HGNC:20265 "ENST00000267339.6|NM_017664.4" +HGNC:39891 ANKRD10-IT1 ANKRD10 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 ANKRD10 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-04-08 2015-02-25 2015-02-25 100505494 ENSG00000229152 OTTHUMG00000046190 uc058yhs.1 ANKRD10-IT1 +HGNC:21316 ANKRD11 ankyrin repeat domain containing 11 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "LZ16|T13|ANCO1|ANCO-1" ankyrin repeats containing cofactor 1 ankyrin repeat domain 11 Ankyrin repeat domain containing 403 2004-01-15 2021-12-10 2021-12-10 29123 ENSG00000167522 OTTHUMG00000175548 uc002fmx.3 AY373756 NM_013275 CCDS32513 Q6UB99 "18840648|21782149" MGI:1924337 RGD:1306679 611192 273977 HGNC:21316 "ENST00000301030.10|NM_013275.6" HGNC:21316 +HGNC:54737 ANKRD11P1 ANKRD11 pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2019-12-19 2020-01-21 100287912 ENSG00000234429 NG_021508 +HGNC:54738 ANKRD11P2 ANKRD11 pseudogene 2 pseudogene pseudogene Approved Xq27.3 Xq27.3 2019-12-19 2020-01-21 100419906 ENSG00000231686 NG_026775 +HGNC:29135 ANKRD12 ankyrin repeat domain 12 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "KIAA0874|FLJ20053|GAC-1|ANCO-2" ankyrin repeats containing cofactor 2 Ankyrin repeat domain containing 403 2004-02-05 2021-12-03 23253 ENSG00000101745 OTTHUMG00000131595 uc002knv.4 AY373757 NM_015208 "CCDS42411|CCDS11843" Q6UB98 "10048485|15184363" MGI:1914357 RGD:1310118 610616 HGNC:29135 "ENST00000262126.9|NM_015208.5" +HGNC:21268 ANKRD13A ankyrin repeat domain 13A protein-coding gene gene with protein product Approved 12q24.11 12q24.11 NY-REN-25 ANKRD13 ankyrin repeat domain 13 Ankyrin repeat domain containing 403 2003-06-05 2006-06-30 2006-06-30 2016-10-04 88455 ENSG00000076513 OTTHUMG00000169314 uc001tpx.4 AF064604 NM_033121 CCDS9140 Q8IZ07 10508479 MGI:1915670 RGD:1308577 615123 HGNC:21268 "ENST00000261739.9|NM_033121.2" +HGNC:26363 ANKRD13B ankyrin repeat domain 13B protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FLJ25555 Ankyrin repeat domain containing 403 2005-07-18 2015-08-26 124930 ENSG00000198720 OTTHUMG00000132731 uc002hei.4 AK092673 NM_152345 CCDS11251 Q86YJ7 MGI:2144501 RGD:1564005 615124 HGNC:26363 "ENST00000394859.8|NM_152345.5" +HGNC:25374 ANKRD13C ankyrin repeat domain 13C protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "DKFZP566D1346|dJ677H15.3" Ankyrin repeat domain containing 403 2005-07-18 2015-08-24 81573 ENSG00000118454 OTTHUMG00000009343 uc001dex.5 NM_030816 CCDS648 Q8N6S4 11230166 MGI:2139746 RGD:1595074 615125 HGNC:25374 "ENST00000370944.9|NM_030816.5" +HGNC:27880 ANKRD13D ankyrin repeat domain 13D protein-coding gene gene with protein product Approved 11q13.2 11q13.2 ankyrin repeat domain 13 family, member D Ankyrin repeat domain containing 403 2005-07-18 2005-08-09 2016-06-02 2016-06-02 338692 ENSG00000172932 OTTHUMG00000162929 uc001okd.3 AK027313 NM_207354 "CCDS31616|CCDS86220" Q6ZTN6 MGI:1915673 RGD:1309156 615126 HGNC:27880 "ENST00000511455.7|NM_207354.3" +HGNC:23471 ANKRD16 ankyrin repeat domain 16 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 DKFZP434N1511 Ankyrin repeat domain containing 403 2003-11-19 2016-10-17 54522 ENSG00000134461 OTTHUMG00000017610 uc010qat.3 AL137614 NM_019046 "CCDS31137|CCDS31136" Q6P6B7 MGI:2444796 RGD:1311405 618017 HGNC:23471 "ENST00000380094.10|NM_019046.3" +HGNC:23575 ANKRD17 ankyrin repeat domain 17 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "GTAR|KIAA0697|FLJ22206|NY-BR-16|MASK2" Ankyrin repeat domain containing 403 2003-11-25 2016-10-05 26057 ENSG00000132466 OTTHUMG00000160826 uc003hgp.4 AB014597 NM_032217 "CCDS34003|CCDS68721|CCDS34004" O75179 11165478 MGI:1932101 RGD:1562348 615929 HGNC:23575 "ENST00000358602.9|NM_032217.5" +HGNC:55556 ANKRD17-DT ANKRD17 divergent transcript non-coding RNA RNA, long non-coding Approved 4q13.3 04q13.3 Divergent transcripts 1990 2021-04-07 2021-04-07 102724832 ENSG00000250220 XR_001741719 +HGNC:23643 ANKRD18A ankyrin repeat domain 18A protein-coding gene gene with protein product Approved 9p13.1 09p13.1 "KIAA2015|FLJ35740" Ankyrin repeat domain containing 403 2003-11-28 2014-11-18 253650 ENSG00000180071 OTTHUMG00000186349 uc004abg.5 AB095935 NM_001331100 CCDS55311 Q8IVF6 MGI:1923639 469944 HGNC:23643 "ENST00000399703.6|NM_147195.4" +HGNC:23644 ANKRD18B ankyrin repeat domain 18B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 bA255A11.3 Ankyrin repeat domain containing 403 2004-06-02 2016-10-18 441459 ENSG00000230453 OTTHUMG00000019776 uc064spz.1 NM_001244752 A2A2Z9 MGI:1923639 618930 HGNC:23644 "ENST00000684830.1|NM_001393611.1" +HGNC:43601 ANKRD18CP ankyrin repeat domain 18C, pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 2011-11-23 2020-04-20 101926917 ENSG00000159712 OTTHUMG00000020318 NR_136286 PGOHUM00000304004 HGNC:43601 +HGNC:28016 ANKRD18DP ankyrin repeat domain 18D, pseudogene pseudogene pseudogene Approved 3q29 03q29 2011-11-23 2014-11-19 348840 ENSG00000226435 OTTHUMG00000150228 BC042518 NR_003291 PGOHUM00000237916 HGNC:28016 +HGNC:43609 ANKRD18EP ankyrin repeat domain 18E, pseudogene pseudogene pseudogene Approved 6p21.2 06p21.2 2011-11-23 2011-11-23 100131031 ENSG00000217165 OTTHUMG00000014640 NG_028818 PGOHUM00000243614 HGNC:43609 +HGNC:22567 ANKRD19P ankyrin repeat domain 19, pseudogene pseudogene pseudogene Approved 9q22.31 09q22.31 FLJ36178 ANKRD19 "ankyrin repeat domain 19|ankyrin repeat domain 19 pseudogene" 2003-11-28 2011-04-27 2011-04-27 2016-10-05 138649 ENSG00000187984 OTTHUMG00000020237 BC038951 NR_026868 Q9H560 HGNC:22567 +HGNC:23665 ANKRD20A1 ankyrin repeat domain 20 family member A1 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 DKFZp434A171 ANKRD20A "ankyrin repeat domain 20A|ankyrin repeat domain 20 family, member A1" Ankyrin repeat domain containing 403 2004-05-27 2005-08-23 2015-11-18 2019-11-28 84210 ENSG00000260691 OTTHUMG00000188594 uc004aeu.4 AL136793 NM_032250 CCDS6620 Q5TYW2 MGI:1923639 HGNC:23665 "ENST00000562196.6|NM_032250.5" +HGNC:31979 ANKRD20A2P ankyrin repeat domain 20 family member A2, pseudogene pseudogene pseudogene Approved 9p11.2 09p11.2 ANKRD20A2 "ankyrin repeat domain 20 family, member A2|ankyrin repeat domain 20 family member A2" Ankyrin repeat domain containing 403 2005-08-23 2019-11-28 2019-11-28 2019-11-28 441430 ENSG00000183148 OTTHUMG00000058641 uc004acd.4 XR_004837499 Q5SQ80 HGNC:31979 +HGNC:31981 ANKRD20A3P ankyrin repeat domain 20 family member A3, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 ANKRD20A3 "ankyrin repeat domain 20 family, member A3|ankyrin repeat domain 20 family member A3" Ankyrin repeat domain containing 403 2005-08-23 2019-11-28 2019-11-28 2019-11-28 441425 ENSG00000276203 OTTHUMG00000188432 uc033cut.1 XR_001746295 Q5VUR7 MGI:1923639 HGNC:31981 +HGNC:31982 ANKRD20A4P ankyrin repeat domain 20 family member A4, pseudogene pseudogene pseudogene Approved 9q13 09q13 OTTHUMG00000066855 ANKRD20A4 "ankyrin repeat domain 20 family, member A4|ankyrin repeat domain 20 family member A4" Ankyrin repeat domain containing 403 2006-06-30 2019-11-28 2019-11-28 2021-10-07 728747 ENSG00000172014 OTTHUMG00000066855 uc004afn.4 Q4UJ75 MGI:1923639 HGNC:31982 +HGNC:33833 ANKRD20A5P ankyrin repeat domain 20 family member A5, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 MGC26718 ANKRD20A5 "ankyrin repeat domain 20 family, member A5|ankyrin repeat domain 20 family, member A5, pseudogene" 2009-02-27 2011-06-01 2015-11-18 2017-05-11 440482 ENSG00000186481 OTTHUMG00000191817 BC022023 NR_040113 A0PJZ0 PGOHUM00000294737 HGNC:33833 +HGNC:37714 ANKRD20A6P ankyrin repeat domain 20 family member A6, pseudogene pseudogene pseudogene Approved Yq11.21 Yq11.21 ankyrin repeat domain 20 family, member A6, pseudogene 2010-02-04 2015-11-18 2016-10-04 728157 ENSG00000274502 OTTHUMG00000188066 XM_001126719 PGOHUM00000305639 HGNC:37714 +HGNC:31980 ANKRD20A7P ankyrin repeat domain 20 family member A7, pseudogene pseudogene pseudogene Approved 9p11.1 09p11.1 ankyrin repeat domain 20 family, member A7, pseudogene 2010-09-30 2015-11-18 2016-10-05 653436 ENSG00000236816 OTTHUMG00000066784 NG_012726 PGOHUM00000236098 HGNC:31980 +HGNC:23666 ANKRD20A8P ankyrin repeat domain 20 family member A8, pseudogene pseudogene pseudogene Approved 2q11.1 02q11.1 ANKRD20B "ankyrin repeat domain 20B|ankyrin repeat domain 20 family, member A8, pseudogene" 2004-07-09 2010-12-15 2015-11-18 2018-04-24 729171 ENSG00000229089 OTTHUMG00000155138 NR_003366 Q5CZ79 MGI:1923639 PGOHUM00000240189 HGNC:23666 +HGNC:42023 ANKRD20A9P ankyrin repeat domain 20 family member A9, pseudogene pseudogene pseudogene Approved 13q11 13q11 ankyrin repeat domain 20 family, member A9, pseudogene 2011-06-01 2015-11-18 2015-11-18 284232 ENSG00000206192 OTTHUMG00000016458 NR_138091 PGOHUM00000248293 HGNC:42023 +HGNC:39707 ANKRD20A10P ankyrin repeat domain 20 family member A10, pseudogene pseudogene pseudogene Approved 13q12.12 13q12.12 ANKRD20A4P1 "ankyrin repeat domain 20 family, member A4 pseudogene 1|ankyrin repeat domain 20 family, member A10, pseudogene" 2011-03-23 2011-06-01 2015-11-18 2015-11-18 100421422 ENSG00000226695 OTTHUMG00000016591 NG_024841 PGOHUM00000248335 HGNC:39707 +HGNC:42024 ANKRD20A11P ankyrin repeat domain 20 family member A11, pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 C21orf81 "chromosome 21 open reading frame 81|ankyrin repeat domain 20 family, member A11, pseudogene" 2011-06-01 2015-11-18 2020-04-20 391267 ENSG00000215559 OTTHUMG00000074237 NR_027270 PGOHUM00000239030 HGNC:42024 +HGNC:43603 ANKRD20A12P ankyrin repeat domain 20 family member A12, pseudogene pseudogene pseudogene Approved 4 04 ankyrin repeat domain 20 family, member A12, pseudogene 2011-11-23 2015-11-18 2016-11-11 100874392 NR_046228 Q8NF67 PGOHUM00000244178 +HGNC:43604 ANKRD20A13P ankyrin repeat domain 20 family member A13, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 ankyrin repeat domain 20 family, member A13, pseudogene 2011-11-23 2015-11-18 2015-11-18 100132733 NG_029281 PGOHUM00000244187 +HGNC:43605 ANKRD20A14P ankyrin repeat domain 20 family member A14, pseudogene pseudogene pseudogene Approved unplaced unplaced ankyrin repeat domain 20 family, member A14, pseudogene 2011-11-23 2015-11-18 2016-11-11 100533719 NG_028834 PGOHUM00000244891 +HGNC:43606 ANKRD20A15P ankyrin repeat domain 20 family member A15, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 ankyrin repeat domain 20 family, member A15, pseudogene 2011-11-23 2015-11-18 2015-11-18 100533720 NG_028835 PGOHUM00000244902 +HGNC:43607 ANKRD20A16P ankyrin repeat domain 20 family member A16, pseudogene pseudogene pseudogene Approved 21p11.2 21p11.2 ankyrin repeat domain 20 family, member A16, pseudogene 2011-11-23 2015-11-18 2015-11-18 100421427 NG_025049 PGOHUM00000239106 HGNC:43607 +HGNC:43608 ANKRD20A17P ankyrin repeat domain 20 family member A17, pseudogene pseudogene pseudogene Approved 4p11 04p11 ankyrin repeat domain 20 family, member A17, pseudogene 2011-11-23 2015-11-18 2015-11-18 100421363 ENSG00000251056 OTTHUMG00000160600 NG_025102 PGOHUM00000245523 HGNC:43608 +HGNC:23756 ANKRD20A18P ankyrin repeat domain 20 family member A18, pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 C21orf126 "chromosome 21 open reading frame 126|ankyrin repeat domain 20 family, member A18, pseudogene" 2003-12-08 2011-11-23 2015-11-18 2015-11-18 391269 ENSG00000249493 OTTHUMG00000074259 NG_009314 PGOHUM00000239143 HGNC:23756 +HGNC:42737 ANKRD20A19P ankyrin repeat domain 20 family member A19, pseudogene pseudogene pseudogene Approved 13q12.12 13q12.12 ankyrin repeat domain 20 family, member A19, pseudogene 2011-11-23 2015-11-18 2015-11-18 400110 ENSG00000196593 OTTHUMG00000016572 NR_073430 PGOHUM00000248331 HGNC:42737 +HGNC:32319 ANKRD20A20P ankyrin repeat domain 20 family member A20, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 CCDC29 "coiled-coil domain containing 29|ankyrin repeat domain 20 family, member A20, pseudogene" 2006-06-30 2012-07-12 2015-11-18 2015-11-18 728788 NG_016332 HGNC:32319 +HGNC:52329 ANKRD20A21P ankyrin repeat domain 20 family member A21, pseudogene pseudogene pseudogene Approved 20q11.21 20q11.21 2016-07-22 2016-07-22 102723552 ENSG00000277112 OTTHUMG00000189351 XR_002958558 PGOHUM00000305985 HGNC:52329 +HGNC:28321 ANKRD22 ankyrin repeat domain 22 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 MGC22805 Ankyrin repeat domain containing 403 2004-05-27 2017-07-14 118932 ENSG00000152766 OTTHUMG00000018699 uc001kfj.5 BC021671 NM_144590 CCDS7390 Q5VYY1 28667340 MGI:1277101 RGD:1307862 HGNC:28321 "ENST00000371930.5|NM_144590.3" +HGNC:24470 ANKRD23 ankyrin repeat domain 23 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "DARP|FLJ32449|MARP3" diabetes related ankyrin repeat protein Ankyrin repeat domain containing 403 2004-01-12 2018-05-03 200539 ENSG00000163126 OTTHUMG00000130534 uc002sxa.4 NM_144994 CCDS2027 Q86SG2 12456686 MGI:1925571 RGD:1310398 610736 HGNC:24470 "ENST00000318357.9|NM_144994.8" +HGNC:29424 ANKRD24 ankyrin repeat domain 24 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 KIAA1981 Ankyrin repeat domain containing 403 2004-02-02 2019-08-20 170961 ENSG00000089847 OTTHUMG00000181865 uc010dtt.1 AB075861 NM_133475 CCDS45925 Q8TF21 11853319 MGI:1890394 RGD:1311385 HGNC:29424 "ENST00000318934.9|NM_001393985.1" +HGNC:29186 ANKRD26 ankyrin repeat domain containing 26 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 KIAA1074 THC2 "thrombocytopenia 2 (autosomal dominant)|ankyrin repeat domain 26" Ankyrin repeat domain containing 403 2004-02-04 2021-12-10 2021-12-10 22852 ENSG00000107890 OTTHUMG00000017851 uc009xku.2 AB028997 NM_001256053 CCDS41499 Q9UPS8 "10470851|21211618|30824690" MGI:1917887 RGD:1310736 LRG_605|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_605.xml 610855 260545 HGNC:29186 "ENST00000376087.5|NM_014915.3" HGNC:29186 +HGNC:32955 ANKRD26P1 ankyrin repeat domain 26 pseudogene 1 pseudogene pseudogene Approved 16q11.2 16q11.2 FLJ43980 2009-06-12 2009-06-12 2014-11-19 124149 ENSG00000261239 OTTHUMG00000175593 BC070117 NR_026556 Q6NSI1 PGOHUM00000262118 HGNC:32955 +HGNC:39687 ANKRD26P2 ankyrin repeat domain 26 pseudogene 2 pseudogene pseudogene Approved 13q13.3 13q13.3 2011-03-23 2011-03-23 646929 ENSG00000235550 OTTHUMG00000016762 NG_006568 PGOHUM00000248371 HGNC:39687 +HGNC:39689 ANKRD26P3 ankyrin repeat domain 26 pseudogene 3 pseudogene pseudogene Approved 13q12.11 13q12.11 LINC00414 long intergenic non-protein coding RNA 414 2011-03-23 2014-11-19 100101938 ENSG00000237636 OTTHUMG00000016484 NR_027248 PGOHUM00000248306 HGNC:39689 +HGNC:39690 ANKRD26P4 ankyrin repeat domain 26 pseudogene 4 pseudogene pseudogene Approved 13q12.3 13q12.3 2011-03-23 2014-11-19 100873882 ENSG00000229427 OTTHUMG00000016689 NG_011732 PGOHUM00000248560 HGNC:39690 +HGNC:25310 ANKRD27 ankyrin repeat domain 27 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "FLJ00040|DKFZp434L0718|VARP" Vps9 domain and ankyrin-repeat-containing protein ankyrin repeat domain 27 (VPS9 domain) "Ankyrin repeat domain containing|VPS9 domain containing|Small nucleolar RNA protein coding host genes" "403|928|1835" 2004-02-11 2015-11-17 2016-10-05 84079 ENSG00000105186 OTTHUMG00000180225 uc002ntn.2 AK054561 NM_032139 CCDS32986 Q96NW4 16525121 MGI:2444103 RGD:1307106 618957 HGNC:25310 "ENST00000306065.9|NM_032139.3" +HGNC:29024 ANKRD28 ankyrin repeat domain 28 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "KIAA0379|PITK|PP6-ARS-A|PPP1R65|FAP79|CFAP79" "phosphatase interactor targeting K protein|protein phosphatase 6 ankyrin repeat subunit A|protein phosphatase 1, regulatory subunit 65" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Protein phosphatase 6 regulatory subunits|Cilia and flagella associated|MicroRNA protein coding host genes" "403|694|699|1491|1691" 2004-02-26 2020-01-28 23243 ENSG00000206560 OTTHUMG00000155379 uc003caj.3 AY367056 NM_015199 "CCDS74908|CCDS46769" O15084 "9205841|19458477" MGI:2145661 RGD:1559931 611122 HGNC:29024 "ENST00000683139.1|NM_001349278.2" +HGNC:27110 ANKRD29 ankyrin repeat domain 29 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 FLJ25053 Ankyrin repeat domain containing 403 2004-04-30 2015-08-24 147463 ENSG00000154065 OTTHUMG00000131875 uc002kun.4 AK057782 NM_173505 "CCDS77164|CCDS11879" Q8N6D5 MGI:2687055 RGD:1587260 HGNC:27110 "ENST00000592179.6|NM_173505.4" +HGNC:17234 ANKRD30A ankyrin repeat domain 30A protein-coding gene gene with protein product Approved 10p11.21 10p11.21 NY-BR-1 breast cancer antigen NY-BR-1 Ankyrin repeat domain containing 403 2004-05-12 2014-11-19 91074 ENSG00000148513 OTTHUMG00000017968 uc057sua.1 AF269087 NM_052997 CCDS7193 Q9BXX3 11280766 RGD:1309783 610856 HGNC:17234 "ENST00000361713.2|NM_052997.3" +HGNC:24165 ANKRD30B ankyrin repeat domain 30B protein-coding gene gene with protein product Approved 18p11.21 18p11.21 NY-BR-1.1 "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2004-05-12 2021-07-02 374860 ENSG00000180777 OTTHUMG00000178841 uc060nsr.1 BC028407 NM_001367607 Q9BXX2 11280766 616565 HGNC:24165 "ENST00000690538.1|NM_001367607.2" +HGNC:35167 ANKRD30BL ankyrin repeat domain 30B like protein-coding gene gene with protein product Approved 2q21.2 02q21.2 "NCRNA00164|ANKRD30BP3" "non-protein coding RNA 164|ankyrin repeat domain 30B pseudogene 3" Ankyrin repeat domain containing 403 2008-10-24 2010-06-14 2016-08-11 2017-11-30 554226 ENSG00000163046 OTTHUMG00000153491 uc061nxe.1 NM_001358416 CCDS86883 A7E2S9 17114284 HGNC:35167 "ENST00000409867.6|NM_001358416.1" +HGNC:19722 ANKRD30BP1 ankyrin repeat domain 30B pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 PRED4 "C21orf110|ANKRD30BP" "chromosome 21 open reading frame 110|ankyrin repeat domain 30B pseudogene" 2003-10-02 2010-06-14 2010-06-14 2014-11-19 642460 ENSG00000175302 OTTHUMG00000074201 BQ429618 NG_009612 HGNC:19722 +HGNC:16620 ANKRD30BP2 ankyrin repeat domain 30B pseudogene 2 pseudogene pseudogene Approved 21q11.2 21q11.2 "CT85|CTSP-1" cancer/testis antigen 85 C21orf99 chromosome 21 open reading frame 99 2002-11-26 2010-06-14 2010-06-14 2010-06-14 149992 ENSG00000224309 OTTHUMG00000074164 AF427490 NR_026916 "12036297|17114284" HGNC:16620 +HGNC:27873 ANKRD30BP3 ankyrin repeat domain 30B pseudogene 3 pseudogene pseudogene Approved 10q11.21 10q11.21 2013-01-03 2013-01-03 338579 ENSG00000230501 OTTHUMG00000018076 NR_033891 12477932 PGOHUM00000238762 HGNC:27873 +HGNC:26853 ANKRD31 ankyrin repeat domain 31 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 FLJ40191 Ankyrin repeat domain containing 403 2004-06-04 2018-02-19 256006 ENSG00000145700 OTTHUMG00000162649 uc003kdo.2 AK097510 NM_001164443 CCDS47233 Q8N7Z5 MGI:5006716 RGD:2323520 618423 HGNC:26853 "ENST00000506364.6|NM_001372053.1" +HGNC:13788 ANKRD33 ankyrin repeat domain 33 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "DKFZp686O1689|PANKY" C12orf7 chromosome 12 open reading frame 7 Ankyrin repeat domain containing 403 2000-11-08 2005-01-07 2005-01-07 2016-11-09 341405 ENSG00000167612 OTTHUMG00000169506 uc001rzf.5 NM_182608 "CCDS44892|CCDS8815" Q7Z3H0 20026326 MGI:2443398 RGD:1586880 HGNC:13788 "ENST00000301190.11|NM_182608.4" +HGNC:35240 ANKRD33B ankyrin repeat domain 33B protein-coding gene gene with protein product Approved 5p15.2 05p15.2 Ankyrin repeat domain containing 403 2008-10-29 2016-10-18 651746 ENSG00000164236 OTTHUMG00000162050 uc021xwp.2 NM_001164440 CCDS47191 A6NCL7 MGI:1917904 RGD:1564227 HGNC:35240 "ENST00000296657.7|NM_001164440.2" +HGNC:41298 ANKRD33B-AS1 ANKRD33B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 ANKRD33B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-08 2012-08-15 2014-11-19 100874247 ENSG00000250106 OTTHUMG00000162124 uc063ciy.1 ANKRD33B-AS1 +HGNC:27639 ANKRD34A ankyrin repeat domain 34A protein-coding gene gene with protein product Approved 1q21.1 01q21.1 ANKRD34 ankyrin repeat domain 34 Ankyrin repeat domain containing 403 2005-02-02 2007-11-20 2007-11-20 2015-09-10 284615 ENSG00000272031 OTTHUMG00000013740 uc021ouy.3 AK128050 NM_001039888 CCDS72874 Q69YU3 MGI:3617846 RGD:1308412 HGNC:27639 "ENST00000606888.3|NM_001039888.4" +HGNC:33736 ANKRD34B ankyrin repeat domain 34B protein-coding gene gene with protein product Approved 5q14.1 05q14.1 DP58 Ankyrin repeat domain containing 403 2007-11-20 2014-11-19 340120 ENSG00000189127 OTTHUMG00000162541 uc003kgw.4 NM_001004441 CCDS34194 A5PLL1 MGI:2443245 RGD:1594383 618581 HGNC:33736 "ENST00000338682.8|NM_001004441.3" +HGNC:33888 ANKRD34C ankyrin repeat domain 34C protein-coding gene gene with protein product Approved 15q25.1 15q25.1 Ankyrin repeat domain containing 403 2007-11-20 2013-01-10 390616 ENSG00000235711 OTTHUMG00000172072 uc059mho.1 NM_001146341 CCDS53965 P0C6C1 MGI:2685617 RGD:1305403 HGNC:33888 "ENST00000421388.4|NM_001146341.2" +HGNC:48618 ANKRD34C-AS1 ANKRD34C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 Antisense RNAs 1987 2014-11-21 2014-11-21 729911 ENSG00000259234 OTTHUMG00000172071 "DA336675|DA364073" NR_038997 ANKRD34C-AS1 HGNC:48618 +HGNC:26323 ANKRD35 ankyrin repeat domain 35 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 FLJ25124 Ankyrin repeat domain containing 403 2005-02-02 2015-08-28 148741 ENSG00000198483 OTTHUMG00000013743 uc001eob.2 AK091120 NM_144698 "CCDS72867|CCDS72868" Q8N283 MGI:2442590 RGD:1305527 HGNC:26323 "ENST00000355594.9|NM_144698.5" +HGNC:24079 ANKRD36 ankyrin repeat domain 36 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 UNQ2430 Ankyrin repeat domain containing 403 2005-02-07 2014-11-18 375248 ENSG00000135976 OTTHUMG00000155256 uc010yva.3 BC046186 NM_001354587 A6QL64 12975309 RGD:735187 HGNC:24079 "ENST00000420699.9|NM_001354587.1" +HGNC:29333 ANKRD36B ankyrin repeat domain 36B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 FLJ21281 "melanoma-associated antigen|CLL-associated antigen KW-1" KIAA1641 KIAA1641 Ankyrin repeat domain containing 403 2004-07-26 2008-03-25 2008-03-25 2014-11-18 57730 ENSG00000196912 OTTHUMG00000130547 uc010fid.2 AK024934 NM_025190 CCDS74543 Q8N2N9 10997877 HGNC:29333 "ENST00000359901.9|NM_001393939.1" +HGNC:28169 ANKRD36BP1 ankyrin repeat domain 36B pseudogene 1 pseudogene pseudogene Approved 1q24.2 01q24.2 MGC12538 "ANKRD26L1|ANKRD36BL1" "ankyrin repeat domain 26-like 1|ankyrin repeat domain 36B-like 1" 2005-04-07 2010-02-16 2010-02-16 2014-11-19 84832 ENSG00000214262 OTTHUMG00000040770 NR_026844 Q96IX9 HGNC:28169 +HGNC:33607 ANKRD36BP2 ankyrin repeat domain 36B pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2010-09-30 2016-10-05 645784 ENSG00000230006 OTTHUMG00000151690 NR_015424 HGNC:33607 +HGNC:32946 ANKRD36C ankyrin repeat domain 36C protein-coding gene gene with protein product Approved 2q11.1 02q11.1 DKFZp667P0924 protein immuno-reactive with anti-PTH polyclonal antibodies Ankyrin repeat domain containing 403 2011-12-01 2014-11-19 400986 ENSG00000174501 OTTHUMG00000155211 uc061lua.1 AL832836 NM_001010914 Q5JPF3 HGNC:32946 +HGNC:37759 ANKRD36P1 ankyrin repeat domain 36 pseudogene 1 pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-02-16 2014-11-19 100132420 ENSG00000188399 OTTHUMG00000036761 NG_029080 HGNC:37759 +HGNC:29593 ANKRD37 ankyrin repeat domain 37 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 Lrp2bp Ankyrin repeat domain containing 403 2005-02-22 2016-01-14 353322 ENSG00000186352 OTTHUMG00000160459 uc003ixm.4 AY296056 NM_181726 CCDS3841 Q7Z713 MGI:3603344 RGD:1565715 619021 HGNC:29593 "ENST00000335174.6|NM_181726.4" +HGNC:28640 ANKRD39 ankyrin repeat domain 39 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 MGC41816 Ankyrin repeat domain containing 403 2005-05-27 2015-08-24 51239 ENSG00000213337 OTTHUMG00000130530 uc002sxd.5 BC031303 NM_016466 CCDS2028 Q53RE8 11042152 MGI:1914816 RGD:1559504 HGNC:28640 "ENST00000393537.5|NM_016466.6" +HGNC:28233 ANKRD40 ankyrin repeat domain 40 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 MGC15396 Ankyrin repeat domain containing 403 2005-05-29 2013-01-10 91369 ENSG00000154945 OTTHUMG00000162255 uc002iso.4 BC012978 NM_052855 CCDS11572 Q6AI12 12477932 MGI:1918702 RGD:1594678 HGNC:28233 "ENST00000285243.7|NM_052855.4" +HGNC:26080 ANKRD40CL ANKRD40 C-terminal like protein-coding gene gene with protein product Approved 17q21.33 17q21.33 FLJ20694 "C17orf73|LINC00483" "chromosome 17 open reading frame 73|long intergenic non-protein coding RNA 483" 2006-01-04 2018-05-17 2018-05-17 2018-05-17 55018 ENSG00000167117 OTTHUMG00000132429 uc060hmz.1 AK000701 NM_001358683 CCDS86616 Q53H64 MGI:5434049 LINC00483 HGNC:26080 "ENST00000450727.6|NM_001358683.3" +HGNC:26752 ANKRD42 ankyrin repeat domain 42 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "FLJ37874|SARP|PPP1R79" protein phosphatase 1, regulatory subunit 79 "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits" "403|694" 2005-05-29 2015-08-24 338699 ENSG00000137494 OTTHUMG00000167075 uc010rsv.2 AK095193 NM_182603 "CCDS76459|CCDS73356|CCDS8265|CCDS73355|CCDS76458|CCDS76457" Q8N9B4 MGI:1921095 RGD:1310789 619778 HGNC:26752 "ENST00000533342.6|NM_001300975.2" +HGNC:55590 ANKRD42-DT ANKRD42 divergent transcript non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Divergent transcripts 1990 2021-04-28 2021-04-28 100506282 ENSG00000247137 NR_149008 +HGNC:25259 ANKRD44 ankyrin repeat domain 44 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 PP6-ARS-B protein phosphatase 6 ankyrin repeat subunit B "Ankyrin repeat domain containing|Protein phosphatase 6 regulatory subunits" "403|699" 2005-05-29 2019-04-16 91526 ENSG00000065413 OTTHUMG00000154411 uc021vuj.1 AK097086 NM_153697 "CCDS33355|CCDS74619" Q8N8A2 18186651 MGI:3045243 RGD:1561893 HGNC:25259 "ENST00000282272.15|NM_001195144.2" +HGNC:41090 ANKRD44-AS1 ANKRD44 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 Antisense RNAs 1987 2019-07-19 2019-07-19 101927596 ENSG00000231621 OTTHUMG00000154428 NR_135584 HGNC:41090 +HGNC:55840 ANKRD44-DT ANKRD44 divergent transcript non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 Divergent transcripts 1990 2021-08-02 2021-08-02 105373824 ENSG00000225979 XR_001739847 +HGNC:41477 ANKRD44-IT1 ANKRD44 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 ANKRD44 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2020-04-20 101927547 ENSG00000236977 OTTHUMG00000154409 uc032oos.1 NR_046837 ANKRD44-IT1 HGNC:41477 +HGNC:24786 ANKRD45 ankyrin repeat domain 45 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "FLJ45235|CT117" cancer/testis antigen 117 Ankyrin repeat domain containing 403 2005-06-03 2014-11-19 339416 ENSG00000183831 OTTHUMG00000040546 uc001gja.2 NM_198493 CCDS1309 Q5TZF3 MGI:1921094 RGD:1311153 618712 HGNC:24786 "ENST00000333279.3|NM_198493.3" +HGNC:27229 ANKRD46 ankyrin repeat domain 46 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 Ankyrin repeat domain containing 403 2005-07-20 2015-02-24 157567 ENSG00000186106 OTTHUMG00000164724 uc003yjo.3 AB077205 NM_198401 "CCDS59109|CCDS6287" Q86W74 MGI:1916089 RGD:1309382 HGNC:27229 "ENST00000335659.7|NM_001270377.2" +HGNC:25970 ANKRD49 ankyrin repeat domain 49 protein-coding gene gene with protein product Approved 11q21 11q21 "FLJ20189|FGIF|GBIF" fetal globin-inducing factor Ankyrin repeat domain containing 403 2005-09-13 2019-10-17 54851 ENSG00000168876 OTTHUMG00000167793 uc001pew.4 AF025354 NM_017704 CCDS8300 Q8WVL7 11162141 MGI:1930842 RGD:1311759 619571 HGNC:25970 "ENST00000544612.6|NM_017704.3" +HGNC:54619 ANKRD49P1 ANKRD49 pseudogene 1 pseudogene pseudogene Approved 2q36.2 02q36.2 2019-10-17 2020-01-21 100419814 ENSG00000228446 NG_023668 +HGNC:54620 ANKRD49P2 ANKRD49 pseudogene 2 pseudogene pseudogene Approved 12p11.21 12p11.21 2019-10-17 2020-01-21 116435289 ENSG00000225349 NG_068493 +HGNC:54621 ANKRD49P3 ANKRD49 pseudogene 3 pseudogene pseudogene Approved 5q31.1 05q31.1 2019-10-17 2020-01-21 391834 ENSG00000248616 NG_021899 +HGNC:54622 ANKRD49P4 ANKRD49 pseudogene 4 pseudogene pseudogene Approved 7q31.2 07q31.2 2019-10-17 2020-01-21 100130680 ENSG00000214684 NG_022544 +HGNC:29223 ANKRD50 ankyrin repeat domain containing 50 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 KIAA1223 ankyrin repeat domain 50 Ankyrin repeat domain containing 403 2005-12-06 2021-12-10 2021-12-10 57182 ENSG00000151458 OTTHUMG00000161398 uc010inw.4 AB033049 NM_020337 "CCDS34060|CCDS54802" Q9ULJ7 27909246 MGI:2139777 RGD:1311665 HGNC:29223 "ENST00000504087.6|NM_020337.3" HGNC:29223 +HGNC:26614 ANKRD52 ankyrin repeat domain 52 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "FLJ34236|PP6-ARS-C" protein phosphatase 6 ankyrin repeat subunit C "Ankyrin repeat domain containing|Protein phosphatase 6 regulatory subunits" "403|699" 2006-01-17 2019-04-16 283373 ENSG00000139645 OTTHUMG00000170329 uc001skm.5 AK091555 NM_173595 CCDS44920 Q8NB46 18186651 MGI:2444029 RGD:1307124 HGNC:26614 "ENST00000267116.8|NM_173595.4" +HGNC:25691 ANKRD53 ankyrin repeat domain 53 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "FLJ12056|FLJ36160" Ankyrin repeat domain containing 403 2006-03-24 2014-11-19 79998 ENSG00000144031 OTTHUMG00000129712 uc002shk.5 BC035234 NM_024933 "CCDS46321|CCDS1913" Q8N9V6 MGI:1922555 RGD:1561200 617009 HGNC:25691 "ENST00000360589.4|NM_001115116.2" +HGNC:25185 ANKRD54 ankyrin repeat domain 54 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 LIAR Lyn-interacting ankyrin repeat protein "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2006-07-06 2015-03-24 129138 ENSG00000100124 OTTHUMG00000150663 uc003auc.4 BC014641 NM_138797 "CCDS87023|CCDS13959" Q6NXT1 "15461802|22527282" MGI:2444209 RGD:1309552 613383 HGNC:25185 "ENST00000215941.9|NM_138797.4" +HGNC:39214 ANKRD54P1 ankyrin repeat domain 54 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 2010-11-24 2010-11-24 100419962 ENSG00000236442 OTTHUMG00000018075 NG_025432 PGOHUM00000238445 HGNC:39214 +HGNC:25681 ANKRD55 ankyrin repeat domain 55 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FLJ11795 Ankyrin repeat domain containing 403 2006-07-12 2019-11-20 79722 ENSG00000164512 OTTHUMG00000162305 uc003jqu.4 AK021857 NM_024669 CCDS34161 Q3KP44 31620119 MGI:1924568 RGD:1307735 615189 355492 HGNC:25681 "ENST00000341048.9|NM_024669.3" +HGNC:16217 ANKRD60 ankyrin repeat domain 60 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 bA196N14.3 C20orf86 chromosome 20 open reading frame 86 Ankyrin repeat domain containing 403 2001-07-17 2008-03-25 2008-03-25 2016-10-18 140731 ENSG00000124227 OTTHUMG00000032837 uc061xzo.1 AL354776 NM_001304369 CCDS77596 Q9BZ19 MGI:1917315 RGD:1306979 HGNC:16217 +HGNC:22467 ANKRD61 ankyrin repeat domain 61 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 Ankyrin repeat domain containing 403 2008-09-18 2016-10-05 100310846 ENSG00000157999 OTTHUMG00000154561 uc031swn.2 NM_001271700 CCDS64590 A6NGH8 MGI:1913979 RGD:1586393 HGNC:22467 "ENST00000409061.2|NM_001271700.2" +HGNC:35241 ANKRD62 ankyrin repeat domain 62 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 DKFZp779B1634 Ankyrin repeat domain containing 403 2008-11-27 2016-10-18 342850 ENSG00000181626 OTTHUMG00000180673 uc031rhk.2 BX648696 NM_001277333 CCDS67439 A6NC57 MGI:1917887 HGNC:35241 "ENST00000587848.3|NM_001277333.2" +HGNC:42363 ANKRD62P1 ankyrin repeat domain 62 pseudogene 1 pseudogene pseudogene Approved 22q11.1 22q11.1 2011-07-04 2012-06-27 107080639 ENSG00000259271 OTTHUMG00000149993 NG_046683 PGOHUM00000246201 HGNC:42363 +HGNC:42393 ANKRD62P1-PARP4P3 ANKRD62P1-PARP4P3 readthrough, transcribed pseudogene other readthrough Approved 22q11.1 22q11.1 VWFP1-ANKRD62P1-PARP4P3 ANKRD62P1-PARP4P3 readthrough (non-protein coding) 2011-07-07 2013-04-23 2015-07-30 23783 ENSG00000189295 OTTHUMG00000186061 uc062bfe.1 NR_040115 HGNC:42393 +HGNC:40027 ANKRD63 ankyrin repeat domain 63 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 Ankyrin repeat domain containing 403 2011-05-05 2014-11-19 100131244 ENSG00000230778 OTTHUMG00000176892 uc021sjf.1 NM_001190479 CCDS53929 C9JTQ0 MGI:2686183 RGD:1595953 HGNC:40027 "ENST00000434396.2|NM_001190479.3" +HGNC:42950 ANKRD65 ankyrin repeat domain 65 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 Ankyrin repeat domain containing 403 2011-10-07 2013-01-10 441869 ENSG00000235098 OTTHUMG00000002911 uc010nyo.3 NM_001145210 "CCDS57962|CCDS57963|CCDS55558" E5RJM6 MGI:2685285 RGD:1588232 HGNC:42950 "ENST00000537107.6|NM_001145210.3" +HGNC:55844 ANKRD65-AS1 ANKRD65 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Antisense RNAs 1987 2021-08-09 2021-08-09 105378585 ENSG00000225905 XR_946814 +HGNC:44669 ANKRD66 ankyrin repeat domain 66 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 Ankyrin repeat domain containing 403 2012-12-11 2015-08-24 100287718 ENSG00000230062 OTTHUMG00000014791 uc011dwf.3 AK304342 NM_001162435 CCDS59024 B4E2M5 MGI:1925106 RGD:1560151 HGNC:44669 "ENST00000565422.3|NM_001162435.3" +HGNC:20961 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A protein-coding gene gene with protein product Approved 6p21.31 06p21.31 KIAA0229 ANKS1 "ankyrin repeat and SAM domain containing 1|ankyrin repeat and sterile alpha motif domain containing 1" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2003-04-24 2006-02-17 2006-02-17 2016-10-18 23294 ENSG00000064999 OTTHUMG00000014559 uc003ojx.5 D86982 NM_015245 CCDS4798 Q92625 9039502 MGI:2446180 RGD:1309183 608994 HGNC:20961 "ENST00000360359.5|NM_015245.3" +HGNC:24600 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "EB-1|AIDA-1|cajalin-2|ANKS2" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2006-02-17 2016-01-14 56899 ENSG00000185046 OTTHUMG00000170308 uc001tge.3 AF145204 NM_020140 "CCDS55871|CCDS55868|CCDS55872|CCDS55866|CCDS86326|CCDS55867|CCDS55865|CCDS55864|CCDS55870|CCDS55869" Q7Z6G8 "10490826|12415113" MGI:1924781 RGD:1565556 607815 HGNC:24600 "ENST00000683438.2|NM_001352186.2" HGNC:24600 +HGNC:29422 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA1977|FLJ32345|FLJ32767" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2006-02-17 2014-11-19 124401 ENSG00000168096 OTTHUMG00000129478 uc002cxj.3 AK057329 NM_133450 "CCDS73820|CCDS10520|CCDS76813" Q6ZW76 11853319 MGI:1919865 RGD:1305833 617310 469946 HGNC:29422 "ENST00000304283.9|NM_133450.4" HGNC:29422 +HGNC:26795 ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "FLJ38819|HARP" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2006-02-17 2016-01-14 257629 ENSG00000175311 OTTHUMG00000177371 uc010bwp.2 AK096138 NM_145865 CCDS42130 Q8N8V4 MGI:1919324 RGD:1584204 609901 HGNC:26795 "ENST00000311620.7|NM_145865.3" +HGNC:26724 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "FLJ36928|NPHP16" "SAMD6|ANKRD14" "sterile alpha motif domain containing 6|ankyrin repeat domain 14" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2003-12-19 2006-02-17 2006-02-17 2016-10-05 203286 ENSG00000165138 OTTHUMG00000020347 uc004ayu.4 AK094247 NM_173551 CCDS43856 Q68DC2 23793029 MGI:1922941 RGD:3334 615370 361188 HGNC:26724 "ENST00000353234.5|NM_173551.5" HGNC:26724 +HGNC:29642 ANKUB1 ankyrin repeat and ubiquitin domain containing 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 C3orf16 chromosome 3 open reading frame 16 Ankyrin repeat domain containing 403 2004-07-29 2011-05-10 2011-05-10 2014-11-18 389161 ENSG00000206199 OTTHUMG00000159615 uc003exl.4 AK027233 NM_001144960 CCDS82857 A6NFN9 MGI:2685256 RGD:2320491 HGNC:29642 "ENST00000446160.7|NM_001144960.3" +HGNC:25527 ANKZF1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 protein-coding gene gene with protein product Approved 2q35 02q35 "FLJ10415|ZNF744|Vms1" ankyrin repeat and zinc finger domain containing 1 "Zinc fingers C2H2-type|Ankyrin repeat domain containing" "28|403" 2006-02-22 2019-04-25 2021-05-26 55139 ENSG00000163516 OTTHUMG00000154533 uc002vkg.3 AF364318 NM_018089 "CCDS42821|CCDS63129" Q9H8Y5 "21896481|29632312" MGI:1098746 RGD:1359242 617541 HGNC:25527 "ENST00000323348.10|NM_018089.3" +HGNC:14082 ANLN anillin actin binding protein protein-coding gene gene with protein product Approved 7p14.2 07p14.2 "ANILLIN|Scraps|scra" "anillin (Drosophila Scraps homolog), actin binding protein|anillin, actin binding protein (scraps homolog, Drosophila)" Pleckstrin homology domain containing 682 2001-01-03 2015-07-02 2021-05-26 54443 ENSG00000011426 OTTHUMG00000023143 uc003tff.4 AF273437 NM_018685 "CCDS5447|CCDS64628" Q9NQW6 10931866 MGI:1920174 RGD:1561367 616027 410859 HGNC:14082 "ENST00000265748.7|NM_018685.5" HGNC:14082 +HGNC:21625 ANO1 anoctamin 1 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "TAOS2|FLJ10261|DOG1" "ORAOV2|TMEM16A" "oral cancer overexpressed 2|transmembrane protein 16A|anoctamin 1, calcium activated chloride channel" Anoctamins 865 2003-10-16 2008-08-28 2016-03-07 2016-10-05 55107 ENSG00000131620 OTTHUMG00000167204 uc001opj.4 BC033036 NM_018043 CCDS44663 Q5XXA6 "15067359|18724360|24692353" MGI:2142149 RGD:1310786 610108 objectId:708 HGNC:21625 "ENST00000355303.10|NM_018043.7" +HGNC:40016 ANO1-AS1 ANO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 ANO1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-28 2012-08-15 2014-11-19 100873981 ENSG00000254902 OTTHUMG00000167205 uc058eru.1 ANO1-AS1 +HGNC:1183 ANO2 anoctamin 2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 transmembrane protein 16B (eight membrane-spanning domains) "C12orf3|TMEM16B" "chromosome 12 open reading frame 3|transmembrane protein 16B|anoctamin 2, calcium activated chloride channel" Anoctamins 865 2000-08-24 2008-08-28 2016-03-07 2020-09-17 57101 ENSG00000047617 OTTHUMG00000168264 uc058kbl.1 AJ272204 NM_020373 CCDS44807 Q9NQ90 "12739008|15067359|24692353" MGI:2387214 RGD:1591606 610109 HGNC:1183 "ENST00000682330.1|NM_001364791.2" +HGNC:14004 ANO3 anoctamin 3 protein-coding gene gene with protein product Approved 11p14.2 11p14.2 "GENX-3947|DYT23" "transmembrane protein 16C (eight membrane-spanning domains)|dystonia 23" "C11orf25|TMEM16C" "chromosome 11 open reading frame 25|transmembrane protein 16C" Anoctamins 865 2000-11-28 2008-08-28 2008-08-28 2021-05-26 63982 ENSG00000134343 OTTHUMG00000166096 uc001mqt.5 AJ300461 NM_031418 "CCDS81557|CCDS31447" Q9BYT9 "12739008|15067359|23200863|24692353" MGI:3613666 RGD:1308873 610110 320756 HGNC:14004 "ENST00000256737.8|NM_031418.4" HGNC:14004 +HGNC:54190 ANO3-AS1 ANO3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p14.2 11p14.2 Antisense RNAs 1987 2019-03-08 2019-03-08 105376599 ENSG00000254819 NR_132968 HGNC:54190 +HGNC:23837 ANO4 anoctamin 4 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FLJ34221|FLJ34272|FLJ35277" TMEM16D transmembrane protein 16D Anoctamins 865 2003-12-17 2008-08-28 2008-08-28 2016-10-04 121601 ENSG00000151572 OTTHUMG00000170465 uc001thw.3 AK091540 NM_178826 "CCDS66445|CCDS31884" Q32M45 "12739008|15067359|24692353" MGI:2443344 RGD:1310252 610111 HGNC:23837 "ENST00000392977.8|NM_001286615.2" +HGNC:27337 ANO5 anoctamin 5 protein-coding gene gene with protein product Approved 11p14.3 11p14.3 GDD1 "TMEM16E|LGMD2L" "transmembrane protein 16E|limb girdle muscular dystrophy 2L (autosomal recessive)" Anoctamins 865 2004-04-07 2008-08-28 2008-08-28 2021-05-26 203859 ENSG00000171714 OTTHUMG00000166051 uc001mqi.3 AL833271 NM_213599 CCDS31444 Q75V66 "15067359|20096397|24692353" MGI:3576659 RGD:1564265 LRG_868|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_868.xml 608662 120137 HGNC:27337 "ENST00000324559.9|NM_213599.3" HGNC:27337 +HGNC:25240 ANO6 anoctamin 6 protein-coding gene gene with protein product Approved 12q12 12q12 DKFZp313M0720 TMEM16F transmembrane protein 16F Anoctamins 865 2004-04-07 2008-08-28 2008-08-28 2021-05-26 196527 ENSG00000177119 OTTHUMG00000169564 uc001roo.4 AL832340 NM_001025356 "CCDS44865|CCDS31782|CCDS55819|CCDS44866" Q4KMQ2 "15067359|24692353" MGI:2145890 RGD:1304765 LRG_877|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_877.xml 608663 258633 HGNC:25240 "ENST00000320560.13|NM_001025356.3" HGNC:25240 +HGNC:31677 ANO7 anoctamin 7 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "NGEP|PCANAP5L|IPCA-5" "PCANAP5|TMEM16G" transmembrane protein 16G Anoctamins 865 2004-10-06 2008-08-28 2008-08-28 2014-11-18 50636 ENSG00000146205 OTTHUMG00000151702 uc002wax.2 AY617079 NM_001001891 "CCDS33423|CCDS46563" Q6IWH7 "14981236|15375614|24692353" MGI:3052714 RGD:1302987 605096 HGNC:31677 "ENST00000674324.2|NM_001370694.2" +HGNC:32248 ANO7L1 anoctamin 7 like 1 (pseudogene) pseudogene pseudogene Approved 1p36.13 01p36.13 "TMEM16M|C1orf224|ANO7P1" "transmembrane protein 16M|chromosome 1 open reading frame 224|anoctamin 7 pseudogene 1|anoctamin 7 like 1" 2005-09-21 2016-07-19 2019-06-20 2020-04-20 101927546 ENSG00000237276 OTTHUMG00000002221 XR_007065488 PGOHUM00000243911 HGNC:32248 +HGNC:29329 ANO8 anoctamin 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KIAA1623|TMEM16H" "KIAA1623|transmembrane protein 16H" Anoctamins 865 2004-02-12 2008-08-28 2008-08-28 2016-10-18 57719 ENSG00000074855 OTTHUMG00000182665 uc002ngf.2 AB046843 NM_020959 CCDS32949 Q9HCE9 "10997877|24692353" MGI:2687327 RGD:1563946 610216 HGNC:29329 "ENST00000159087.7|NM_020959.3" +HGNC:20679 ANO9 anoctamin 9 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 PIG5 "TP53I5|TMEM16J" "tumor protein p53 inducible protein 5|transmembrane protein 16J" Anoctamins 865 2003-03-20 2008-08-28 2008-08-28 2014-11-18 338440 ENSG00000185101 OTTHUMG00000165446 uc001lpi.3 U33271 NM_001012302 CCDS31326 A1A5B4 "9305847|24692353" MGI:1918595 RGD:1560565 HGNC:20679 "ENST00000332826.7|NM_001012302.3" +HGNC:25519 ANO10 anoctamin 10 protein-coding gene gene with protein product Approved 3p22.1-p21.33 03p22.1-p21.33 "FLJ10375|MGC47890|SCAR10" TMEM16K transmembrane protein 16K Anoctamins 865 2005-09-21 2008-08-28 2008-08-28 2021-05-26 55129 ENSG00000160746 OTTHUMG00000133044 uc003cmv.4 AL832508 NM_018075 "CCDS2710|CCDS56250|CCDS56247|CCDS56249|CCDS56248" Q9NW15 24692353 MGI:2143103 RGD:1308260 613726 284296 HGNC:25519 "ENST00000292246.8|NM_018075.5" HGNC:25519 +HGNC:6211 ANOS1 anosmin 1 protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 "KALIG-1|WFDC19" "anosmin-1|WAP four-disulfide core domain 19|Adhesion molecule-like, X-linked|Kallmann syndrome interval gene 1" "KAL|ADMLX|KAL1" Kallmann syndrome 1 sequence "WAP four-disulfide core domain containing|Fibronectin type III domain containing" "361|555" 1986-01-01 2015-04-10 2015-04-10 2021-05-26 3730 ENSG00000011201 OTTHUMG00000021107 NM_000216 CCDS14130 P23352 11463336 MGI:3649773 RGD:2318138 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KAL1 300836 122751 I17.004 HGNC:6211 "ENST00000262648.8|NM_000216.4" HGNC:6211 +HGNC:6214 ANOS2P anosmin 2, pseudogene pseudogene pseudogene Approved Yq11.221 Yq11.221 KAL-Y "ADMLY|KALP" Kallmann syndrome sequence pseudogene 1991-08-19 2015-04-10 2015-04-10 2018-05-25 3734 ENSG00000241859 OTTHUMG00000036365 X68743 NG_001153 "1303285|23721716" PGOHUM00000233962 HGNC:6214 +HGNC:13233 ANP32A acidic nuclear phosphoprotein 32 family member A protein-coding gene gene with protein product Approved 15q23 15q23 "LANP|PP32|I1PP2A|PHAPI|MAPM|mapmodulin" C15orf1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member A "ANP32 acidic nuclear phosphoproteins|INHAT complex|SET complex|MicroRNA protein coding host genes" "27|1658|1659|1691" 2002-02-13 2015-11-05 2015-11-05 8125 ENSG00000140350 OTTHUMG00000154502 uc002arl.4 AF025684 NM_006305 CCDS45292 P39687 "8970164|9144194" MGI:108447 RGD:11508551 600832 HGNC:13233 "ENST00000465139.6|NM_006305.4" +HGNC:25672 ANP32A-IT1 ANP32A intronic transcript 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 "FLJ11722|HsT18971" "C15orf28|NCRNA00321" "chromosome 15 open reading frame 28|non-protein coding RNA 321|ANP32A intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2004-06-29 2011-08-11 2015-02-25 2015-02-25 80035 AK021784 NR_026808 14702039 ANP32A-IT1 HGNC:25672 +HGNC:42949 ANP32AP1 acidic nuclear phosphoprotein 32 family member A pseudogene 1 pseudogene pseudogene Approved 15q14 15q14 acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 2011-09-08 2015-11-05 2015-11-05 723972 ENSG00000259516 OTTHUMG00000172321 NR_003144 PGOHUM00000262917 HGNC:42949 +HGNC:16677 ANP32B acidic nuclear phosphoprotein 32 family member B protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "SSP29|PHAPI2|APRIL" acidic protein rich in leucines acidic (leucine-rich) nuclear phosphoprotein 32 family, member B ANP32 acidic nuclear phosphoproteins 27 2002-02-13 2015-11-05 2016-10-05 10541 ENSG00000136938 OTTHUMG00000020338 uc004aya.4 Y07969 NM_006401 CCDS6732 Q92688 "9285060|9473664" MGI:1914878 RGD:621285 619823 HGNC:16677 "ENST00000339399.5|NM_006401.3" +HGNC:24267 ANP32BP1 acidic nuclear phosphoprotein 32 family member B pseudogene 1 pseudogene pseudogene Approved 15q24.2 15q24.2 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1 2010-06-17 2015-11-05 2015-11-05 646791 ENSG00000259790 OTTHUMG00000172674 NG_022900 PGOHUM00000246856 HGNC:24267 +HGNC:38552 ANP32BP2 acidic nuclear phosphoprotein 32 family member B pseudogene 2 pseudogene pseudogene Approved 22q13.31 22q13.31 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 2 2010-06-17 2015-11-05 2015-11-05 100130708 ENSG00000231801 OTTHUMG00000150461 NG_022880 PGOHUM00000246606 HGNC:38552 +HGNC:44089 ANP32BP3 acidic nuclear phosphoprotein 32 family member B pseudogene 3 pseudogene pseudogene Approved 15q25.1 15q25.1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 3 2012-06-20 2015-11-05 2015-11-05 100652899 ENSG00000259461 OTTHUMG00000172264 NG_032808 PGOHUM00000258880 HGNC:44089 +HGNC:16675 ANP32C acidic nuclear phosphoprotein 32 family member C other unknown Approved 4q32.3 04q32.3 PP32R1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member C ANP32 acidic nuclear phosphoproteins 27 2002-02-13 2015-11-05 2019-06-20 23520 ENSG00000248546 OTTHUMG00000161205 AF008216 NM_012403 O43423 "10086381|10400610" MGI:108447 606877 HGNC:16675 +HGNC:16676 ANP32D acidic nuclear phosphoprotein 32 family member D protein-coding gene gene with protein product Approved 12q13.11 12q13.11 PP32R2 pp32 related 2 acidic (leucine-rich) nuclear phosphoprotein 32 family, member D ANP32 acidic nuclear phosphoproteins 27 2002-02-13 2015-11-05 2016-10-05 23519 ENSG00000139223 OTTHUMG00000162681 uc010slt.3 U71084 NM_012404 CCDS31788 O95626 "10086381|10400610" MGI:108447 606878 HGNC:16676 "ENST00000266594.4|NM_012404.3" +HGNC:16673 ANP32E acidic nuclear phosphoprotein 32 family member E protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "LANPL|MGC5350|LANP-L" acidic (leucine-rich) nuclear phosphoprotein 32 family, member E ANP32 acidic nuclear phosphoproteins 27 2003-04-15 2015-11-05 2016-10-05 81611 ENSG00000143401 OTTHUMG00000012547 uc031uya.1 AK092672 NM_030920 "CCDS44215|CCDS946|CCDS44214|CCDS60245" Q9BTT0 12438741 MGI:1913721 RGD:1310611 609611 HGNC:16673 "ENST00000583931.6|NM_030920.5" +HGNC:500 ANPEP alanyl aminopeptidase, membrane protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "LAP1|gp150|p150" "aminopeptidase N|aminopeptidase M|microsomal aminopeptidase|membrane alanyl aminopeptidase" "CD13|PEPN" alanyl (membrane) aminopeptidase "Aminopeptidases|CD molecules|M1 metallopeptidases" "104|471|1437" 1989-02-28 2016-01-06 2020-09-17 290 ENSG00000166825 OTTHUMG00000149814 uc002bop.5 M22324 NM_001150 CCDS10356 P15144 "2428842|1977688" MGI:5000466 RGD:2991 151530 M01.001 objectId:1560 CD13 3.4.11.2 HGNC:500 "ENST00000300060.7|NM_001150.3" +HGNC:14152 ANTKMT adenine nucleotide translocase lysine methyltransferase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC2494 "C16orf24|FAM173A" "chromosome 16 open reading frame 24|family with sequence similarity 173, member A|family with sequence similarity 173 member A" 7BS protein lysine methyltransferases 2056 2000-12-21 2019-06-24 2019-06-24 2019-06-24 65990 ENSG00000103254 OTTHUMG00000121177 uc002cje.5 BC002624 NM_023933 "CCDS10423|CCDS59254" Q9BQD7 31213526 MGI:2384888 RGD:1306126 618566 HGNC:14152 "ENST00000569529.6|NM_023933.3" +HGNC:21014 ANTXR1 ANTXR cell adhesion molecule 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "TEM8|FLJ21776|FLJ10601|ATR" "anthrax toxin receptor|tumor endothelial marker 8 precursor" anthrax toxin receptor 1 MicroRNA protein coding host genes 1691 2003-08-27 2018-05-10 2021-05-26 84168 ENSG00000169604 OTTHUMG00000129575 uc002sfg.4 AF421380 NM_032208 "CCDS46314|CCDS1892|CCDS46313" Q9H6X2 "10947988|11559528" MGI:1916788 RGD:1307144 606410 353211 HGNC:21014 "ENST00000303714.9|NM_032208.3" HGNC:21014 +HGNC:21732 ANTXR2 ANTXR cell adhesion molecule 2 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "CMG2|CMG-2|FLJ31074" capillary morphogenesis protein 2 anthrax toxin receptor 2 2003-09-25 2018-05-10 2021-05-26 118429 ENSG00000163297 OTTHUMG00000151982 uc003hly.5 AY040326 NM_058172 "CCDS47086|CCDS47085|CCDS68733" P58335 "11683410|12700348" MGI:1919164 RGD:1561294 608041 121369 HGNC:21732 "ENST00000403729.7|NM_058172.6" HGNC:21732 +HGNC:27277 ANTXRL ANTXR like protein-coding gene gene with protein product Approved 10q11.22 10q11.22 anthrax toxin receptor like 2005-06-03 2018-05-10 2018-05-10 195977 ENSG00000274209 OTTHUMG00000188318 uc031wet.2 NM_001278688 CCDS60524 A6NF34 MGI:1925726 RGD:1563190 HGNC:27277 "ENST00000620264.5|NM_001278688.3" +HGNC:45004 ANTXRLP1 ANTXR like pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 anthrax toxin receptor-like pseudogene 1 2013-01-07 2018-05-10 2018-05-10 100996567 ENSG00000263482 OTTHUMG00000188317 NR_103827 PGOHUM00000289841 HGNC:45004 +HGNC:533 ANXA1 annexin A1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "ANX1|LPC1" "Annexins|Receptor ligands" "404|542" 2001-06-22 2020-09-17 301 ENSG00000135046 OTTHUMG00000020016 uc004ajf.2 X05908 NM_000700 CCDS6645 P04083 2936963 MGI:96819 RGD:2118 151690 ligandId:1031 HGNC:533 "ENST00000257497.11|NM_000700.3" +HGNC:537 ANXA2 annexin A2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 LIP2 annexin II "ANX2|ANX2L4|CAL1H|LPC2D" Annexins 404 2001-06-22 2020-09-17 302 ENSG00000182718 OTTHUMG00000132763 uc002agn.4 D00017 NM_001002857 "CCDS10175|CCDS32256" P07355 7961821 MGI:88246 RGD:621170 151740 HGNC:537 "ENST00000451270.7|NM_004039.3" +HGNC:538 ANXA2P1 annexin A2 pseudogene 1 pseudogene pseudogene Approved 4q31.3 04q31.3 "LPC2A|ANX2P1|ANX2L1" 2001-06-22 2020-01-06 303 ENSG00000213406 OTTHUMG00000161554 M62896 NR_001562 "1611909|2174397" PGOHUM00000300036 HGNC:538 +HGNC:539 ANXA2P2 annexin A2 pseudogene 2 pseudogene pseudogene Approved 9p13.3 09p13.3 "ANX2P2|ANX2L2|LPC2B" 1986-01-01 2014-11-19 304 ENSG00000231991 OTTHUMG00000019778 M62898 NR_003573 A6NMY6 2969496 MGI:88246 HGNC:539 +HGNC:540 ANXA2P3 annexin A2 pseudogene 3 pseudogene pseudogene Approved 10q21.3 10q21.3 LIP2 "ANX2P3|ANX2L3|LPC2C" 2001-06-22 2016-08-15 305 ENSG00000216740 OTTHUMG00000018326 M62895 NR_001446 2174397 PGOHUM00000290182 HGNC:540 +HGNC:33463 ANXA2R annexin A2 receptor protein-coding gene gene with protein product Approved 5p12 05p12 AXIIR C5orf39 chromosome 5 open reading frame 39 2007-05-02 2012-03-09 2012-03-09 2014-11-18 389289 ENSG00000177721 OTTHUMG00000162232 uc063dhv.1 BC067873 NM_001014279 CCDS34153 Q3ZCQ2 "16895901|18636554" MGI:5595238 611296 HGNC:33463 "ENST00000616064.2|NM_001014279.3" +HGNC:27208 ANXA2R-AS1 ANXA2R antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p12 05p12 Antisense RNAs 1987 2021-12-02 2021-12-02 153684 ENSG00000215068 OTTHUMG00000131146 NR_015447 +HGNC:48996 ANXA2R-OT1 ANXA2R overlapping transcript non-coding RNA RNA, long non-coding Approved 5p12 05p12 Overlapping transcripts 1988 2021-12-02 2021-12-02 648987 ENSG00000177738 NR_104651 +HGNC:541 ANXA3 annexin A3 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 ANX3 Annexins 404 1990-11-07 2020-09-17 306 ENSG00000138772 OTTHUMG00000130198 uc003hld.4 M63310 NM_005139 CCDS3584 P12429 1830024 MGI:1201378 RGD:2119 106490 3.1.4.43 HGNC:541 "ENST00000264908.11|NM_005139.3" +HGNC:542 ANXA4 annexin A4 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 ANX4 Annexins 404 1992-02-13 2020-09-17 307 ENSG00000196975 OTTHUMG00000129649 uc002sfr.6 M82809 NM_001153 "CCDS82459|CCDS1894" P09525 1346776 MGI:88030 RGD:621171 106491 HGNC:542 "ENST00000394295.6|NM_001153.5" +HGNC:543 ANXA5 annexin A5 protein-coding gene gene with protein product Approved 4q27 04q27 "CPB-I|PAP-I|VAC-alph|RPRGL3" "annexin V|Calphobindin I|Placental anticoagulant protein I|Vascular anticoagulant-alpha|endonexin II" "ENX2|ANX5" Annexins 404 1989-05-31 2021-10-26 308 ENSG00000164111 OTTHUMG00000133034 uc003idv.5 U05770 NM_001154 CCDS3720 P08758 "2960376|14678296" MGI:106008 RGD:2120 LRG_606|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_606.xml 131230 HGNC:543 "ENST00000296511.10|NM_001154.4" HGNC:543 +HGNC:544 ANXA6 annexin A6 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 ANX6 Annexins 404 1990-02-01 2020-09-17 309 ENSG00000197043 OTTHUMG00000164179 uc003ltl.3 J03578 NM_001155 "CCDS47315|CCDS54941" P08133 3258820 MGI:88255 RGD:621172 114070 HGNC:544 "ENST00000354546.10|NM_001155.5" +HGNC:545 ANXA7 annexin A7 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 ANX7 Annexins 404 1994-07-20 2020-09-17 310 ENSG00000138279 OTTHUMG00000018463 uc001jua.3 J04543 NM_001156 "CCDS7326|CCDS7325" P20073 7515686 MGI:88031 RGD:621173 186360 HGNC:545 "ENST00000372921.10|NM_001156.5" +HGNC:546 ANXA8 annexin A8 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 ANX8 Annexins 404 1991-08-12 2020-09-17 653145 ENSG00000265190 OTTHUMG00000188209 uc001jev.5 M81844 NM_001040084 "CCDS73122|CCDS73123|CCDS73121" P13928 1364010 MGI:1201374 RGD:1307719 602396 HGNC:546 "ENST00000585281.6|NM_001040084.3" +HGNC:23334 ANXA8L1 annexin A8 like 1 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "bA301J7.3|bA145E20.2" ANXA8L2 annexin A8-like 2 Annexins 404 2004-06-02 2017-02-20 2017-02-20 728113 ENSG00000264230 OTTHUMG00000018131 uc031wew.2 NM_001098845 "CCDS73097|CCDS73099|CCDS73098" Q5VT79 MGI:1201374 HGNC:23334 "ENST00000619162.5|NM_001098845.3" +HGNC:547 ANXA9 annexin A9 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 ANX31 Annexins 404 1998-12-11 2020-09-17 8416 ENSG00000143412 OTTHUMG00000035063 uc001ewa.3 AJ009985 NM_003568 CCDS975 O76027 "9742942|9931420" MGI:1923711 RGD:1587550 603319 HGNC:547 "ENST00000368947.9|NM_003568.3" +HGNC:534 ANXA10 annexin A10 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 ANX14 Annexins 404 1999-09-17 2020-09-17 11199 ENSG00000109511 OTTHUMG00000161275 uc003irm.4 AJ238979 NM_007193 CCDS34096 Q9UJ72 10458909 MGI:1347090 RGD:1560956 608008 HGNC:534 "ENST00000359299.8|NM_007193.5" +HGNC:535 ANXA11 annexin A11 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 annexin XI ANX11 Annexins 404 1994-05-17 2021-05-26 311 ENSG00000122359 OTTHUMG00000018604 uc001kbr.2 L19605 NM_145869 "CCDS7364|CCDS60576" P50995 "7508441|9503022" MGI:108481 RGD:1309911 602572 HGNC:535 "ENST00000422982.8|NM_145868.2" HGNC:535 +HGNC:536 ANXA13 annexin A13 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 ANX13 Annexins 404 1998-05-15 2020-09-17 312 ENSG00000104537 OTTHUMG00000164987 uc003yqu.4 Z11502 NM_004306 "CCDS34939|CCDS47917" P27216 9503022 MGI:1917037 RGD:1307545 602573 HGNC:536 "ENST00000419625.6|NM_004306.4" +HGNC:548 AOAH acyloxyacyl hydrolase protein-coding gene gene with protein product Approved 7p14.2 07p14.2 acyloxyacyl hydrolase (neutrophil) 1992-09-16 2015-11-26 2020-09-17 313 ENSG00000136250 OTTHUMG00000023566 uc032zjw.2 BC025698 NM_001637 "CCDS5448|CCDS75584|CCDS55102" P28039 1883828 MGI:1350928 RGD:1560514 102593 objectId:2873 3.1.1.77 HGNC:548 "ENST00000617537.5|NM_001637.4" +HGNC:41307 AOAH-IT1 AOAH intronic transcript 1 non-coding RNA RNA, long non-coding Approved 7p14.2 07p14.2 AOAH intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2018-09-21 100874264 ENSG00000230539 OTTHUMG00000154938 uc031swz.1 NR_046764 AOAH-IT1 HGNC:41307 +HGNC:80 AOC1 amine oxidase copper containing 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 DAO diamine oxidase "ABP1|ABP" amiloride binding protein 1 (amine oxidase (copper-containing)) 1991-05-06 2013-06-19 2019-01-18 2020-09-17 26 ENSG00000002726 OTTHUMG00000158306 AK092514 NM_001091 "CCDS43679|CCDS64797" P19801 8182053 MGI:1923757 RGD:61296 104610 1.4.3.22 HGNC:80 "ENST00000360937.9|NM_001091.4" +HGNC:549 AOC2 amine oxidase copper containing 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RAO|DAO2" amine oxidase, copper containing 2 (retina-specific) 1996-10-26 2019-01-18 2020-09-17 314 ENSG00000131480 OTTHUMG00000180655 uc002ibu.5 AF081363 "NM_009590|NM_001158" "CCDS11443|CCDS45690" O75106 "9119395|9722954" MGI:2668431 RGD:727941 602268 1.4.3.21 HGNC:549 "ENST00000253799.8|NM_009590.4" +HGNC:550 AOC3 amine oxidase copper containing 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "VAP1|HPAO|VAP-1" vascular adhesion protein 1 1998-12-03 2019-01-18 2020-09-17 8639 ENSG00000131471 OTTHUMG00000180656 uc002ibv.6 AF067406 NM_003734 "CCDS62198|CCDS11444|CCDS74071" Q16853 "9653080|8972912" MGI:1306797 RGD:62058 603735 objectId:2767 1.4.3.21 HGNC:550 "ENST00000308423.7|NM_003734.4" +HGNC:48869 AOC4P amine oxidase copper containing 4, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 UPAT ubiquitin-like plant homeodomain (PHD) and really interesting new gene (RING) finger domain-containing protein 1 (UHRF1) protein associated transcript 2013-06-19 2019-01-18 2019-01-18 90586 ENSG00000260105 OTTHUMG00000176596 NR_002773 "20013028|26160837" PGOHUM00000237400 HGNC:48869 +HGNC:1361 AOPEP aminopeptidase O (putative) protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "C90RF3|FLJ14675|APO|AP-O" C9orf3 chromosome 9 open reading frame 3 "M1 metallopeptidases|MicroRNA protein coding host genes" "1437|1691" 1999-01-28 2019-01-03 2019-01-03 2020-09-17 84909 ENSG00000148120 OTTHUMG00000020276 uc004ava.3 AF043896 NM_032823 "CCDS55327|CCDS55328|CCDS6713" Q8N6M6 15687497 MGI:1919311 RGD:1309592 619600 M01.028 objectId:1561 HGNC:1361 "ENST00000375315.8|NM_001193329.3" +HGNC:553 AOX1 aldehyde oxidase 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "AO|AOH1" 1997-04-16 2020-09-17 316 ENSG00000138356 OTTHUMG00000154536 uc002uvx.4 AF017060 NM_001159 CCDS33360 Q06278 7570184 MGI:88035 RGD:620528 602841 469948 objectId:3186 HGNC:553 "ENST00000374700.7|NM_001159.4" +HGNC:18450 AOX2P aldehyde oxidase 2, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 AOH2 AOX2 aldehyde oxidase 2 2002-04-03 2008-05-22 2019-07-30 2020-08-14 344454 ENSG00000243478 OTTHUMG00000154538 AI187776 NR_001557 "11562361|23263164" MGI:3529596 HGNC:18450 +HGNC:19049 AOX3P aldehyde oxidase 3, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 AOH1 2013-09-26 2013-09-26 2020-08-14 107126360 ENSG00000244301 OTTHUMG00000154534 NG_046634 "10893244|23263164" MGI:1918974 HGNC:19049 +HGNC:53766 AOX3P-AOX2P AOX3P-AOX2P readthrough, transcribed pseudogene other readthrough Approved 2q33.1 02q33.1 2017-10-25 2017-10-25 107161151 ENSG00000284084 OTTHUMG00000191899 NR_135011 HGNC:53766 +HGNC:28808 AP1AR adaptor related protein complex 1 associated regulatory protein protein-coding gene gene with protein product Approved 4q25 04q25 "PRO0971|2C18|gamma-BAR" gamma1-adaptin brefeldin A resistance C4orf16 "chromosome 4 open reading frame 16|adaptor-related protein complex 1 associated regulatory protein" 2004-09-15 2009-09-25 2015-12-17 2015-12-17 55435 ENSG00000138660 OTTHUMG00000132849 uc003iaj.6 AL136628 NM_018569 "CCDS47125|CCDS3696" Q63HQ0 15775984 MGI:2384822 RGD:1311435 610851 HGNC:28808 "ENST00000274000.10|NM_018569.6" +HGNC:55391 AP1AR-DT AP1AR divergent transcript non-coding RNA RNA, long non-coding Approved 4q25 04q25 Divergent transcripts 1990 2020-12-17 2020-12-17 119863862 ENSG00000260526 +HGNC:554 AP1B1 adaptor related protein complex 1 subunit beta 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "BAM22|AP105A" "ADTB1|CLAPB2" "ADTB1, CLAPB2|adaptor related protein complex 1 beta 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 1|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1493|1671|1691|1835" 2000-09-01 2018-04-23 2021-05-26 162 ENSG00000100280 OTTHUMG00000151109 uc062cxt.1 L13939 NM_001127 "CCDS13856|CCDS13855|CCDS54515" Q10567 "7987321|8812422" MGI:1096368 RGD:2064 600157 HGNC:554 "ENST00000357586.7|NM_001127.4" HGNC:554 +HGNC:297 AP1B1P1 AP1B1 pseudogene 1 pseudogene pseudogene Approved 22q12.3 22q12.3 dJ127L4.2 ADTB1L1 "adaptin, beta 1-like 1|adaptor-related protein complex 1, beta 1 subunit pseudogene 1|adaptor-related protein complex 1 beta 1 subunit pseudogene 1|adaptor related protein complex 1 beta 1 subunit pseudogene 1" 1999-10-29 2010-09-29 2018-04-23 2018-04-23 23782 ENSG00000234479 OTTHUMG00000030158 NG_002625 10591208 PGOHUM00000246567 HGNC:297 +HGNC:298 AP1B1P2 AP1B1 pseudogene 2 pseudogene pseudogene Approved 22q12.3 22q12.3 dJ127L4.3 ADTB1L2 "adaptin, beta 1-like 2|adaptor-related protein complex 1, beta 1 subunit pseudogene 2|adaptor-related protein complex 1 beta 1 subunit pseudogene 2|adaptor related protein complex 1 beta 1 subunit pseudogene 2" 1999-10-29 2010-09-29 2018-04-23 2018-04-23 23781 ENSG00000232707 OTTHUMG00000030159 NG_002624 10591208 HGNC:298 +HGNC:555 AP1G1 adaptor related protein complex 1 subunit gamma 1 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 gamma1-adaptin "CLAPG1|ADTG" "adaptor-related protein complex 1, gamma 1 subunit|adaptor related protein complex 1 gamma 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 1|Small nucleolar RNA protein coding host genes" "1493|1671|1835" 2000-09-01 2018-04-23 2021-02-11 164 ENSG00000166747 OTTHUMG00000176871 uc010cgg.4 Y12226 NM_001030007 "CCDS45522|CCDS32480" O43747 "9653655|9733768" MGI:101919 RGD:619785 603533 HGNC:555 "ENST00000299980.9|NM_001128.6" +HGNC:556 AP1G2 adaptor related protein complex 1 subunit gamma 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 G2AD "adaptor-related protein complex 1, gamma 2 subunit|adaptor related protein complex 1 gamma 2 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 1" "1493|1671" 2000-09-01 2018-04-23 2020-09-17 8906 ENSG00000213983 OTTHUMG00000028760 uc010tnp.2 AB015318 NM_003917 CCDS9602 O75843 "9733768|9762922" MGI:1328307 RGD:2324507 603534 HGNC:556 "ENST00000397120.8|NM_003917.5" +HGNC:55442 AP1G2-AS1 AP1G2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Antisense RNAs 1987 2021-01-14 2021-01-14 102724814 ENSG00000258727 NR_110555 +HGNC:13667 AP1M1 adaptor related protein complex 1 subunit mu 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "AP47|CLAPM2|mu1A" "adaptor-related protein complex 1, mu 1 subunit|adaptor related protein complex 1 mu 1 subunit" Adaptor related protein complex 1 1671 2000-09-28 2018-04-23 2021-02-05 8907 ENSG00000072958 OTTHUMG00000182323 uc002ndu.3 NM_032493 "CCDS12342|CCDS46008" Q9BXS5 "9653655|17988225" MGI:102776 RGD:1307653 603535 HGNC:13667 "ENST00000291439.8|NM_032493.4" +HGNC:558 AP1M2 adaptor related protein complex 1 subunit mu 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HSMU1B|mu2|AP1-mu2" "adaptor-related protein complex 1, mu 2 subunit|adaptor related protein complex 1 mu 2 subunit" Adaptor related protein complex 1 1671 2000-09-01 2018-04-23 2020-09-17 10053 ENSG00000129354 OTTHUMG00000180584 uc002mpc.4 AF020797 NM_001300887 "CCDS45964|CCDS77234" Q9Y6Q5 10338135 MGI:1336974 RGD:1561490 607309 HGNC:558 "ENST00000250244.11|NM_005498.5" +HGNC:54978 AP1M2P1 AP1M2 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 2020-05-14 2020-05-14 645388 ENSG00000227534 NG_022666 +HGNC:559 AP1S1 adaptor related protein complex 1 subunit sigma 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "AP19|SIGMA1A|WUGSC:H_DJ0747G18.2" "clathrin-associated/assembly/adaptor protein, small 1 (19kD)|clathrin coat assembly protein AP19|sigma1A subunit of AP-1 clathrin adaptor complex|AP-1 complex subunit sigma-1A|sigma1A-adaptin|golgi adaptor HA1/AP1 adaptin sigma-1A subunit|clathrin assembly protein complex 1 sigma-1A small chain|HA1 19 kDa subunit" "CLAPS1|EKV3" "erythrokeratodermia variabilis 3 (Kamouraska type)|adaptor related protein complex 1 sigma 1 subunit" "Adaptor related protein complex 1|MicroRNA protein coding host genes" "1671|1691" 2000-09-01 2018-04-23 2021-05-26 1174 ENSG00000106367 OTTHUMG00000157103 uc003uxv.5 AB015319 NM_001283 CCDS47669 P61966 "9653655|9733768|19057675" MGI:1098244 RGD:1305911 LRG_1363|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1363.xml 603531 178120 HGNC:559 "ENST00000337619.11|NM_001283.5" HGNC:559 +HGNC:560 AP1S2 adaptor related protein complex 1 subunit sigma 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 SIGMA1B "MRX59|MRXS5|PGS" "mental retardation, X-linked 59|mental retardation, X-linked, syndromic 5|Pettigrew X-linked mental retardation syndrome|adaptor related protein complex 1 sigma 2 subunit" Adaptor related protein complex 1 1671 2000-09-01 2018-04-23 2021-05-26 8905 ENSG00000182287 OTTHUMG00000021186 uc004cxi.5 AB015320 NM_003916 "CCDS14173|CCDS75958" P56377 "9733768|17186471|23756445" MGI:1889383 RGD:1561862 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AP1S2 300629 137988 HGNC:560 "ENST00000672987.1|NM_001272071.2" HGNC:560 +HGNC:50752 AP1S2P1 AP1S2 pseudogene 1 pseudogene pseudogene Approved 7q21.3 07q21.3 "adaptor-related protein complex 1, sigma 2 subunit pseudogene 1|adaptor related protein complex 1 sigma 2 subunit pseudogene 1" 2014-06-16 2018-04-23 2018-04-23 106480305 ENSG00000226046 OTTHUMG00000154127 NG_044301 PGOHUM00000233484 HGNC:50752 +HGNC:18971 AP1S3 adaptor related protein complex 1 subunit sigma 3 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 sigma1C adaptor related protein complex 1 sigma 3 subunit Adaptor related protein complex 1 1671 2002-12-17 2018-04-23 2021-02-11 130340 ENSG00000152056 OTTHUMG00000133165 uc002vnn.4 AF393369 NM_001039569 CCDS42827 Q96PC3 27388993 MGI:1891304 RGD:1311772 615781 402648 HGNC:18971 "ENST00000396654.7|NM_001039569.2" HGNC:18971 +HGNC:561 AP2A1 adaptor related protein complex 2 subunit alpha 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "CLAPA1|ADTAA" "adaptor related protein complex 2 subunit alpha 1|adaptor related protein complex 2 alpha 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 2|MicroRNA protein coding host genes" "1493|1672|1691" 2000-09-01 2018-04-23 2020-09-17 160 ENSG00000196961 OTTHUMG00000183253 uc002ppn.4 AA993745 NM_014203 "CCDS46148|CCDS46149" O95782 2564002 MGI:101921 RGD:1306254 601026 HGNC:561 "ENST00000354293.10|NM_130787.3" +HGNC:562 AP2A2 adaptor related protein complex 2 subunit alpha 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "DKFZP564D1864|HYPJ|KIAA0899|HIP9" "alpha-adaptin C; Huntingtin interacting protein J|adaptin, alpha B|clathrin-associated/assembly/adaptor protein, large, alpha 2" "CLAPA2|ADTAB" "adaptor related protein complex 2 subunit alpha 2|adaptor related protein complex 2 alpha 2 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 2" "1493|1672" 2000-09-01 2018-04-23 2021-05-26 161 ENSG00000183020 OTTHUMG00000165627 uc001lss.4 AB020706 NM_012305 "CCDS73234|CCDS44512" O94973 "9700202|2564002" MGI:101920 RGD:71015 607242 HGNC:562 "ENST00000448903.7|NM_012305.4" HGNC:562 +HGNC:563 AP2B1 adaptor related protein complex 2 subunit beta 1 protein-coding gene gene with protein product Approved 17q12 17q12 beta2-adaptin "ADTB2|CLAPB1" "adaptor related protein complex 2 subunit beta 1|adaptor related protein complex 2 beta 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 2" "1493|1672" 2000-09-01 2018-04-23 2021-02-11 163 ENSG00000006125 OTTHUMG00000179924 uc002hjq.4 M34175 NM_001030006 "CCDS32621|CCDS32622" P63010 "8262066|8595912" MGI:1919020 RGD:71048 601025 HGNC:563 "ENST00000610402.5|NM_001030006.2" +HGNC:55017 AP2B1P1 AP2B1 pseudogene 1 pseudogene pseudogene Approved Xq21.32 Xq21.32 2020-05-22 2020-05-22 401602 ENSG00000234130 NG_022622 +HGNC:564 AP2M1 adaptor related protein complex 2 subunit mu 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "AP50|mu2" "clathrin-associated/assembly/adaptor protein, medium 1|plasma membrane adaptor AP-2 50kDA protein|clathrin coat adaptor protein AP50|clathrin adaptor complex AP2, mu subunit|HA2 50 kDA subunit|clathrin assembly protein complex 2 medium chain|AP-2 mu 2 chain" CLAPM1 adaptor related protein complex 2 mu 1 subunit Adaptor related protein complex 2 1672 2000-09-01 2018-04-23 2021-05-26 1173 ENSG00000161203 OTTHUMG00000156822 uc062qrr.1 U36188 NM_004068 "CCDS43177|CCDS82880|CCDS43178" Q96CW1 8595912 MGI:1298405 RGD:620135 601024 HGNC:564 "ENST00000292807.9|NM_004068.4" HGNC:564 +HGNC:565 AP2S1 adaptor related protein complex 2 subunit sigma 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "FBHOk|FBH3" sigma-2 "CLAPS2|HHC3" "hypocalciuric hypercalcemia 3 (Oklahoma type)|adaptor related protein complex 2 sigma 1 subunit" Adaptor related protein complex 2 1672 2000-09-01 2018-04-23 2021-05-26 1175 ENSG00000042753 OTTHUMG00000183437 uc002pft.2 AJ010148 NM_001301076 "CCDS12693|CCDS33062|CCDS77321|CCDS77322|CCDS77323" P53680 "9040778|9767099|23222959" MGI:2141861 RGD:620188 602242 320542 HGNC:565 "ENST00000263270.11|NM_004069.6" HGNC:565 +HGNC:566 AP3B1 adaptor related protein complex 3 subunit beta 1 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "ADTB3A|HPS2" beta-3A adaptor related protein complex 3 beta 1 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3" "1493|1673" 2000-09-01 2018-04-23 2021-05-26 8546 ENSG00000132842 OTTHUMG00000106919 uc003kfj.5 U81504 NM_001271769 "CCDS64186|CCDS4041" O00203 "9182526|9151686" MGI:1333879 RGD:1310256 "Albinism Database|http://albinismdb.med.umn.edu/|AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2|http://structure.bmc.lu.se/idbase/AP3B1base/|Mutations of the Adaptin b3a Gene|http://www.retina-international.org/files/sci-news/adtb3mut.htm|LRG_170|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_170.xml" 603401 121374 HGNC:566 "ENST00000255194.11|NM_003664.5" HGNC:566 +HGNC:567 AP3B2 adaptor related protein complex 3 subunit beta 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 NAPTB adaptor related protein complex 3 beta 2 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3" "1493|1673" 2000-09-01 2018-04-23 2021-05-26 8120 ENSG00000103723 OTTHUMG00000168009 uc010uoh.4 U37673 NM_001278511 "CCDS61736|CCDS61737|CCDS45331|CCDS86482" Q13367 "7671305|1851215" MGI:1100869 RGD:1308950 602166 HGNC:567 "ENST00000535359.6|NM_001278512.2" HGNC:567 +HGNC:568 AP3D1 adaptor related protein complex 3 subunit delta 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ADTD adaptor related protein complex 3 delta 1 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 3" "1493|1673" 2000-09-01 2018-04-23 2021-05-26 8943 ENSG00000065000 OTTHUMG00000180354 uc002luz.4 U91930 NM_001261826 "CCDS58638|CCDS42459" O14617 "9151686|9303295" MGI:107734 RGD:1308659 LRG_1207|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1207.xml 607246 469950 HGNC:568 "ENST00000643116.3|NM_001261826.3" HGNC:568 +HGNC:569 AP3M1 adaptor related protein complex 3 subunit mu 1 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 adaptor related protein complex 3 mu 1 subunit Adaptor related protein complex 3 1673 2000-09-01 2018-04-23 2020-09-17 26985 ENSG00000185009 OTTHUMG00000018497 uc001jwh.4 AF092092 NM_001320263 CCDS7342 Q9Y2T2 10024875 MGI:1929212 RGD:620417 610366 HGNC:569 "ENST00000355264.9|NM_012095.6" +HGNC:570 AP3M2 adaptor related protein complex 3 subunit mu 2 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "CLA20|AP47B" adaptor related protein complex 3 mu 2 subunit Adaptor related protein complex 3 1673 2000-09-01 2018-04-23 2020-09-17 10947 ENSG00000070718 OTTHUMG00000164060 uc064mjc.1 D38293 NM_001134296 CCDS6125 P53677 7601449 MGI:1929214 RGD:70969 610469 HGNC:570 "ENST00000396926.8|NM_006803.4" +HGNC:2013 AP3S1 adaptor related protein complex 3 subunit sigma 1 protein-coding gene gene with protein product Approved 5q22.3-q23.1 05q22.3-q23.1 CLAPS3 adaptor related protein complex 3 sigma 1 subunit Adaptor related protein complex 3 1673 1996-03-12 2018-04-23 2018-06-22 1176 ENSG00000177879 OTTHUMG00000128887 uc003krl.4 D63643 NM_001364119 "CCDS4123|CCDS83021" Q92572 "8697810|9118953" MGI:1337062 RGD:1311115 601507 HGNC:2013 "ENST00000316788.12|NM_001284.4" +HGNC:571 AP3S2 adaptor related protein complex 3 subunit sigma 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 sigma3b adaptor related protein complex 3 sigma 2 subunit "Adaptor related protein complex 3|MicroRNA protein coding host genes" "1673|1691" 2000-09-01 2018-04-23 2020-09-17 10239 ENSG00000157823 OTTHUMG00000149811 uc002boq.5 X99459 NM_005829 CCDS10357 P59780 9118953 MGI:1337060 RGD:1586888 602416 HGNC:571 "ENST00000336418.9|NM_005829.5" +HGNC:572 AP4B1 adaptor related protein complex 4 subunit beta 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 BETA-4 "beta 4 subunit of AP-4|AP-4 complex subunit beta-1" SPG47 "spastic paraplegia 47|adaptor related protein complex 4 beta 1 subunit" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 4" "1493|1674" 2000-09-01 2018-04-23 2021-05-26 10717 ENSG00000134262 OTTHUMG00000011943 uc001eed.4 AF092094 NM_006594 "CCDS76192|CCDS865" Q9Y6B7 10066790 MGI:1337130 RGD:1310529 607245 270048 HGNC:572 "ENST00000369569.6|NM_001253852.3" HGNC:572 +HGNC:44114 AP4B1-AS1 AP4B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 AP4B1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100287722 ENSG00000226167 OTTHUMG00000011941 uc001edv.3 AK123199 NR_037864 AP4B1-AS1 HGNC:44114 +HGNC:573 AP4E1 adaptor related protein complex 4 subunit epsilon 1 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "AP-4-EPSILON|SPG51" adaptor related protein complex 4 epsilon 1 subunit "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 4" "1493|1674" 2000-09-01 2018-04-23 2021-05-26 23431 ENSG00000081014 OTTHUMG00000172458 uc001zyx.3 AB030653 NM_001252127 "CCDS32240|CCDS58362" Q9UPM8 "10436028|21620353" MGI:1336993 RGD:1562199 LRG_732|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_732.xml 607244 270045 HGNC:573 "ENST00000261842.10|NM_007347.5" HGNC:573 +HGNC:574 AP4M1 adaptor related protein complex 4 subunit mu 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MU-ARP2|MU-4|SPG50" "mu-adaptin-related protein-2|mu subunit of AP-4|AP-4 adapter complex mu subunit|adaptor-related protein complex AP-4 mu4 subunit" adaptor related protein complex 4 mu 1 subunit Adaptor related protein complex 4 1674 2000-09-01 2018-04-23 2021-05-26 9179 ENSG00000221838 OTTHUMG00000154722 uc003utd.4 Y08387 NM_004722 "CCDS5685|CCDS87527" O00189 "9013859|10066790|21620353" MGI:1337063 RGD:1310233 602296 212921 HGNC:574 "ENST00000359593.9|NM_004722.4" HGNC:574 +HGNC:575 AP4S1 adaptor related protein complex 4 subunit sigma 1 protein-coding gene gene with protein product Approved 14q12 14q12 "CLA20|AP47B|SPG52" adaptor related protein complex 4 sigma 1 subunit Adaptor related protein complex 4 1674 2000-09-01 2018-04-23 2021-05-26 11154 ENSG00000100478 OTTHUMG00000140202 uc021rry.2 AB030654 NM_001128126 "CCDS58310|CCDS58309|CCDS9642|CCDS45093" Q9Y587 "10436028|21620353" MGI:1337065 RGD:1311990 607243 270052 HGNC:575 "ENST00000542754.7|NM_001128126.3" HGNC:575 +HGNC:25104 AP5B1 adaptor related protein complex 5 subunit beta 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "PP1030|AP-5|DKFZp761E198" "adaptor-related protein complex 5, beta 1 subunit|adaptor related protein complex 5 beta 1 subunit" "Armadillo like helical domain containing|Adaptor related protein complex 5" "1492|1675" 2012-02-27 2018-04-23 2018-04-23 91056 ENSG00000254470 OTTHUMG00000166593 uc031qbm.2 JQ313135 NM_138368 CCDS58146 Q2VPB7 22022230 MGI:2685808 RGD:1562657 614367 HGNC:25104 "ENST00000532090.3|NM_138368.5" +HGNC:20192 AP5M1 adaptor related protein complex 5 subunit mu 1 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "FLJ10813|MuD|mu5" Mu-2 related death-inducing gene "C14orf108|MUDENG" "chromosome 14 open reading frame 108|MU-2/AP1M2 domain containing, death-inducing|adaptor-related protein complex 5, mu 1 subunit|adaptor related protein complex 5 mu 1 subunit" Adaptor related protein complex 5 1675 2002-12-20 2012-03-20 2018-04-23 2018-04-23 55745 ENSG00000053770 OTTHUMG00000140318 uc001xcv.4 AF094583 NM_018229 CCDS9729 Q9H0R1 18395520 MGI:1921635 RGD:1308087 614368 HGNC:20192 "ENST00000261558.8|NM_018229.4" +HGNC:15875 AP5S1 adaptor related protein complex 5 subunit sigma 1 protein-coding gene gene with protein product Approved 20p13 20p13 FLJ11168 C20orf29 "chromosome 20 open reading frame 29|adaptor-related protein complex 5, sigma 1 subunit|adaptor related protein complex 5 sigma 1 subunit" Adaptor related protein complex 5 1675 2001-06-21 2012-02-27 2018-04-23 2018-04-23 55317 ENSG00000125843 OTTHUMG00000031760 uc002wju.3 AK002030 NM_018347 CCDS13070 Q9NUS5 "11780052|22022230" MGI:1916846 RGD:1561852 614824 HGNC:15875 "ENST00000615891.2|NM_018347.3" +HGNC:22197 AP5Z1 adaptor related protein complex 5 subunit zeta 1 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "SPG48|zeta" KIAA0415 "KIAA0415|adaptor-related protein complex 5, zeta 1 subunit|adaptor related protein complex 5 zeta 1 subunit" "Armadillo like helical domain containing|Adaptor related protein complex 5" "1492|1675" 2007-07-23 2012-03-20 2018-04-23 2021-05-26 9907 ENSG00000242802 OTTHUMG00000151754 uc003sne.4 AB007875 NM_001364858 CCDS47528 O43299 "20613862|22022230" MGI:1924908 RGD:1593125 LRG_1247|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1247.xml 613653 311047 HGNC:22197 "ENST00000649063.2|NM_014855.3" HGNC:22197 +HGNC:576 APAF1 apoptotic peptidase activating factor 1 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "CED4|APAF-1" "apoptotic protease activating factor|apoptotic peptidase activating factor" "WD repeat domain containing|Caspase recruitment domain containing|Apoptosome" "362|959|1341" 1998-01-20 2006-10-23 2020-09-17 317 ENSG00000120868 OTTHUMG00000170214 uc001tfz.4 AF013263 NM_181861.1 "CCDS9071|CCDS55863|CCDS9069|CCDS55862|CCDS9070" O14727 "9267021|10702682" MGI:1306796 RGD:620575 602233 HGNC:576 "ENST00000551964.6|NM_181861.2" HGNC:576 +HGNC:578 APBA1 amyloid beta precursor protein binding family A member 1 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 "D9S411E|X11" MINT1 amyloid beta (A4) precursor protein-binding, family A, member 1 PDZ domain containing 1220 1997-06-25 2016-01-21 2020-09-17 320 ENSG00000107282 OTTHUMG00000019984 uc004ahh.3 AF029106 NM_001163 CCDS6630 Q02410 "7678331|7719031" MGI:1860297 RGD:620844 602414 HGNC:578 "ENST00000265381.7|NM_001163.4" +HGNC:579 APBA2 amyloid beta precursor protein binding family A member 2 protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "D15S1518E|LIN-10|MGC:14091|HsT16821" "X11L|MINT2" "X11-like|amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)|amyloid beta (A4) precursor protein-binding, family A, member 2" PDZ domain containing 1220 1997-06-25 2016-01-21 2020-09-17 321 ENSG00000034053 OTTHUMG00000129255 uc059gzq.1 AB014719 NM_005503 "CCDS45197|CCDS10022" Q99767 8955346 MGI:1261791 RGD:620845 602712 HGNC:579 "ENST00000683413.1|NM_001353788.2" HGNC:579 +HGNC:580 APBA3 amyloid beta precursor protein binding family A member 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "X11L2|mint3" X11-like 2 amyloid beta (A4) precursor protein-binding, family A, member 3 PDZ domain containing 1220 1999-04-22 2016-01-21 2020-09-17 9546 ENSG00000011132 OTTHUMG00000180915 uc002lyp.2 AB021638 NM_004886 CCDS12110 O96018 10049767 MGI:1888527 RGD:620846 604262 HGNC:580 "ENST00000316757.4|NM_004886.4" +HGNC:581 APBB1 amyloid beta precursor protein binding family B member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Fe65 RIR amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 1997-03-27 2016-01-21 2020-09-17 322 ENSG00000166313 OTTHUMG00000165454 uc001mdc.3 L77864 NM_001164 "CCDS66017|CCDS31410|CCDS58114|CCDS66018|CCDS66016|CCDS66015" O00213 "8955346|8894693" MGI:107765 RGD:2122 602709 HGNC:581 "ENST00000609360.6|NM_001164.5" +HGNC:17379 APBB1IP amyloid beta precursor protein binding family B member 1 interacting protein protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "INAG1|RIAM" Rap1-GTP-interacting adaptor molecule amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein Pleckstrin homology domain containing 682 2003-03-07 2016-01-21 2016-01-21 54518 ENSG00000077420 OTTHUMG00000017841 uc001iss.4 AB085852 NM_019043 CCDS31167 Q7Z5R6 9407065 MGI:1861354 RGD:1304795 609036 HGNC:17379 "ENST00000376236.9|NM_019043.4" +HGNC:582 APBB2 amyloid beta precursor protein binding family B member 2 protein-coding gene gene with protein product Approved 4p14-p13 04p14-p13 "FE65L|FE65L1|MGC35575" Fe65-like amyloid beta (A4) precursor protein-binding, family B, member 2 1997-06-25 2016-01-21 2020-09-17 323 ENSG00000163697 OTTHUMG00000160416 uc003gvm.4 U62325 NM_173075 "CCDS82918|CCDS43224|CCDS54762|CCDS54761|CCDS54760" Q92870 "8955346|9585438" MGI:108405 RGD:1562438 602710 HGNC:582 "ENST00000508593.6|NM_004307.2" +HGNC:20708 APBB3 amyloid beta precursor protein binding family B member 3 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 FE65L2 amyloid beta (A4) precursor protein-binding, family B, member 3 MicroRNA protein coding host genes 1691 2003-03-21 2016-01-21 2017-08-14 10307 ENSG00000113108 OTTHUMG00000191657 uc063hvr.1 AB018247 NM_006051 "CCDS47279|CCDS4228|CCDS4227|CCDS4229" O95704 9407065 MGI:108404 RGD:620853 602711 HGNC:20708 "ENST00000357560.9|NM_133173.3" +HGNC:583 APC APC regulator of WNT signaling pathway protein-coding gene gene with protein product Approved 5q22.2 05q22.2 "DP2|DP3|DP2.5|PPP1R46" protein phosphatase 1, regulatory subunit 46 "adenomatosis polyposis coli|adenomatous polyposis coli|APC, WNT signaling pathway regulator" "Armadillo repeat containing|Protein phosphatase 1 regulatory subunits" "409|694" 1986-01-01 2019-01-25 2021-05-26 324 ENSG00000134982 OTTHUMG00000128806 uc003kpy.5 M74088 NM_000038 CCDS4107 P25054 1651563 MGI:88039 RGD:2123 "Adenomatous polyposis coli mutation database|http://p53.free.fr/|UMD Locus Specific Databases|http://www.umd.be/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/APC|APC database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=APC|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/APC|LRG_130|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_130.xml" APC 611731 123393 HGNC:583 "ENST00000257430.9|NM_000038.6" HGNC:583 +HGNC:24036 APC2 APC regulator of WNT signaling pathway 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 APCL adenomatous polyposis coli like "adenomatosis polyposis coli 2|APC2, WNT signaling pathway regulator" Armadillo repeat containing 409 2004-03-18 2019-01-25 2021-05-26 10297 ENSG00000115266 OTTHUMG00000180059 uc002lsr.1 NM_005883 CCDS12068 O95996 "9823329|10021369" MGI:1346052 RGD:1308256 612034 431562 HGNC:24036 "ENST00000590469.6|NM_005883.3" HGNC:24036 +HGNC:15718 APCDD1 APC down-regulated 1 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 B7323 adenomatosis polyposis coli down-regulated 1 2001-06-21 2016-06-28 2021-05-26 147495 ENSG00000154856 OTTHUMG00000131635 uc002kom.5 AB056722 NM_153000 CCDS11849 Q8J025 12384519 MGI:3513977 RGD:1589962 607479 229796 HGNC:15718 "ENST00000355285.10|NM_153000.5" HGNC:15718 +HGNC:26892 APCDD1L APC down-regulated 1 like protein-coding gene gene with protein product Approved 20q13.32 20q13.32 FLJ90166 adenomatosis polyposis coli down-regulated 1-like 2006-07-07 2016-06-28 2016-06-28 164284 ENSG00000198768 OTTHUMG00000032845 uc002xze.2 AK074647 NM_153360 CCDS13467 Q8NCL9 RGD:1562045 HGNC:26892 "ENST00000371149.8|NM_153360.3" +HGNC:27152 APCDD1L-DT APCDD1L divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.32 20q13.32 APCDD1L-AS1 "APCDD1L antisense RNA 1 (non-protein coding)|APCDD1L antisense RNA 1|APCDD1L antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-08-09 2018-03-21 2018-03-21 2018-03-21 149773 ENSG00000231290 OTTHUMG00000032847 uc002xzg.3 "AI077602|AK054637" NR_034147 APCDD1L-AS1 HGNC:27152 +HGNC:584 APCS amyloid P component, serum protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "SAP|PTX2|MGC88159" "pentraxin-related|9.5S alpha-1-glycoprotein|pentraxin-2" Short pentraxins 1143 2001-06-22 2020-09-17 325 ENSG00000132703 OTTHUMG00000022741 uc001ftv.4 NM_001639 CCDS1186 P02743 2987268 MGI:98229 RGD:68322 104770 objectId:2839 HGNC:584 "ENST00000255040.3|NM_001639.4" +HGNC:586 APEH acylaminoacyl-peptide hydrolase protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "acylaminoacyl-peptidase|acylamino-acid-releasing enzyme" "D3F15S2|DNF15S2|D3S48E" N-acylaminoacyl-peptide hydrolase 1991-07-24 2013-05-29 2020-09-17 327 ENSG00000164062 OTTHUMG00000156882 uc003cxf.4 D38441 NM_001640 CCDS2801 P13798 2392324 MGI:88041 RGD:2125 102645 S09.004 objectId:2328 3.4.19.1 HGNC:586 "ENST00000296456.10|NM_001640.4" +HGNC:48925 APELA apelin receptor early endogenous ligand protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "Ende|ELA|tdl" "ELABELA|toddler" Receptor ligands 542 2014-01-24 2014-01-24 100506013 ENSG00000248329 OTTHUMG00000161255 NM_001297550 CCDS77980 P0DMC3 "20153842|24316148|24407481" MGI:3642370 615594 ligandId:7930 HGNC:48925 "ENST00000507152.6|NM_001297550.2" +HGNC:587 APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "APE|REF1|HAP1|APX|APEN|REF-1|APE-1" APEX "APEX nuclease (multifunctional DNA repair enzyme)|APEX nuclease (multifunctional DNA repair enzyme) 1" "SET complex|Endoribonucleases" "1659|1687" 1997-05-22 2002-09-13 2016-03-08 2020-09-17 328 ENSG00000100823 OTTHUMG00000029544 uc001vxi.4 X59764 NM_001641 CCDS9550 P27695 MGI:88042 RGD:2126 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 107748 4.2.99.18 HGNC:587 "ENST00000216714.8|NM_001641.4" HGNC:587 +HGNC:17889 APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "APEXL2|APE2|XTH2|ZGRF2" zinc finger, GRF-type containing 2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Zinc fingers GRF-type 135 2002-07-22 2016-03-08 2020-04-02 27301 ENSG00000169188 OTTHUMG00000021642 uc004dtz.5 AB021260 NM_001271748 CCDS14365 Q9UBZ4 11376153 MGI:1924872 RGD:1565983 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/APEX2 300773 4.2.99.18 HGNC:17889 "ENST00000374987.4|NM_014481.4" +HGNC:29509 APH1A aph-1 homolog A, gamma-secretase subunit protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "APH-1A|CGI-78" "anterior pharynx defective 1 homolog A (C. elegans)|APH1A gamma secretase subunit" 2005-02-08 2016-05-16 2016-05-16 51107 ENSG00000117362 OTTHUMG00000012545 uc001etz.3 AF151835 NM_016022 "CCDS58025|CCDS41391|CCDS41390" Q96BI3 "10810093|12110170" MGI:2385110 RGD:1311546 607629 HGNC:29509 "ENST00000369109.8|NM_001077628.3" +HGNC:24080 APH1B aph-1 homolog B, gamma-secretase subunit protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "PSFL|APH-1B|DKFZp564D0372" "anterior pharynx defective 1 homolog B (C. elegans)|APH1B gamma secretase subunit" 2005-02-08 2016-05-16 2016-05-16 83464 ENSG00000138613 OTTHUMG00000132863 uc002ama.4 AY358698 NM_031301 "CCDS10184|CCDS45276" Q8WW43 "12110170|11230166" MGI:3522097 RGD:1562468 607630 HGNC:24080 "ENST00000261879.10|NM_031301.4" +HGNC:594 API5 apoptosis inhibitor 5 protein-coding gene gene with protein product Approved 11p12 11p12 "AAC-11|API5L1|AAC11" "API5-like 1|fibroblast growth factor 2-interacting factor 2|migration-inducing protein MIG8" Armadillo like helical domain containing 1492 1998-10-06 2020-09-17 8539 ENSG00000166181 OTTHUMG00000166395 uc001mxf.3 U83857 NM_006595 "CCDS31465|CCDS44573|CCDS44572" Q9BZZ5 9307294 MGI:1888993 RGD:1309772 609774 HGNC:594 "ENST00000531273.6|NM_001142930.2" +HGNC:595 API5P1 apoptosis inhibitor 5 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 API5L1 "API5-like 1|API5 pseudogene 1" 1999-07-14 2010-09-30 2015-04-02 2020-04-20 642812 ENSG00000234558 OTTHUMG00000022242 NG_009200 10373420 PGOHUM00000241507 HGNC:595 +HGNC:39070 API5P2 apoptosis inhibitor 5 pseudogene 2 pseudogene pseudogene Approved 2q31.2 02q31.2 API5 pseudogene 2 2010-09-30 2015-04-02 2015-04-02 728664 ENSG00000213962 OTTHUMG00000154194 NG_009199 PGOHUM00000240441 HGNC:39070 +HGNC:17581 APIP APAF1 interacting protein protein-coding gene gene with protein product Approved 11p13 11p13 "CGI-29|Mmrp19|APIP2" methylthioribulose-1-phosphate dehydratase 2005-11-10 2019-08-20 51074 ENSG00000149089 OTTHUMG00000166455 uc001mvs.4 AF132963 NM_015957 CCDS7895 Q96GX9 "10810093|15262985|24367089" MGI:1926788 RGD:1564562 612491 4.2.1.109 HGNC:17581 "ENST00000395787.4|NM_015957.4" +HGNC:28724 APLF aprataxin and PNKP like factor protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "MGC47799|Xip1|ZCCHH1" "XRCC1-interacting protein 1|zinc finger, CX5CX6HX5H motif containing 1" C2orf13 chromosome 2 open reading frame 13 Zinc fingers 26 2004-01-09 2008-10-01 2008-10-01 2016-10-05 200558 ENSG00000169621 OTTHUMG00000129566 uc002sep.4 BC030711 NM_173545 CCDS1888 Q8IW19 "18474613|18077224|17353262" MGI:1919353 RGD:1565557 611035 HGNC:28724 "ENST00000303795.9|NM_173545.3" +HGNC:16665 APLN apelin protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "apelin|XNPEP2" apelin, AGTRL1 ligand Neuropeptides 1902 2004-06-01 2008-04-21 2020-04-02 8862 ENSG00000171388 OTTHUMG00000022371 uc004eus.4 AF179680 NM_017413 CCDS48165 Q9ULZ1 "9792798|10525157" MGI:1353624 RGD:620672 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/APLN 300297 ligandId:606 HGNC:16665 "ENST00000429967.3|NM_017413.5" +HGNC:339 APLNR apelin receptor protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "FLJ90771|APJ|APJR" APJ (apelin) receptor AGTRL1 angiotensin II receptor-like 1 1994-07-07 2008-05-12 2008-05-12 2020-09-17 187 ENSG00000134817 OTTHUMG00000167021 uc058bkm.1 U03642 NM_005161 CCDS7950 P35414 "8294032|14622440" MGI:1346086 RGD:621645 600052 objectId:36 HGNC:339 "ENST00000606794.2|NM_005161.6" +HGNC:597 APLP1 amyloid beta precursor like protein 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 APLP "amyloid-like protein 1|amyloid precursor-like protein 1" amyloid beta (A4) precursor-like protein 1 1992-06-18 2016-01-21 2020-09-17 333 ENSG00000105290 OTTHUMG00000180692 uc002ocf.4 U48437 NM_001024807 CCDS32997 P51693 8432545 MGI:88046 RGD:69257 104775 HGNC:597 "ENST00000221891.9|NM_001024807.3" +HGNC:598 APLP2 amyloid beta precursor like protein 2 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 APPH APPL2 amyloid beta (A4) precursor-like protein 2 1993-06-23 2016-01-21 2020-09-17 334 ENSG00000084234 OTTHUMG00000165767 uc010sby.3 L19597 NM_001642 "CCDS44773|CCDS8486|CCDS58196|CCDS44775|CCDS44774" Q06481 10702673 MGI:88047 RGD:2128 104776 I02.016 HGNC:598 "ENST00000338167.10|NM_001142276.2" +HGNC:13238 APMAP adipocyte plasma membrane associated protein protein-coding gene gene with protein product Approved 20p11.21 20p11.21 BSCv C20orf3 chromosome 20 open reading frame 3 2000-09-19 2012-07-20 2012-07-20 2016-10-05 57136 ENSG00000101474 OTTHUMG00000032107 uc002wty.4 AB033767 NM_020531 CCDS13166 Q9HDC9 "10945474|11583587|20552250" MGI:1919131 RGD:1308874 615884 HGNC:13238 "ENST00000217456.3|NM_020531.3" +HGNC:600 APOA1 apolipoprotein A1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 apolipoprotein A-I Apolipoproteins 405 2001-06-22 2016-04-26 2021-05-26 335 ENSG00000118137 OTTHUMG00000046112 uc001ppv.2 X02162 NM_000039 CCDS8378 P02647 MGI:88049 RGD:2130 LRG_767|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_767.xml 107680 121380 HGNC:600 "ENST00000236850.5|NM_000039.3" HGNC:600 +HGNC:40079 APOA1-AS APOA1 antisense RNA non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Antisense RNAs 1987 2014-01-04 2016-11-24 104326055 ENSG00000235910 OTTHUMG00000150649 DA327409 NR_126362 24388749 apoas1 APOA1-AS HGNC:40079 +HGNC:601 APOA2 apolipoprotein A2 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 apolipoprotein A-II Apolipoproteins 405 2001-06-22 2016-04-26 2021-05-26 336 ENSG00000158874 OTTHUMG00000034346 uc001fzc.2 NM_001643 CCDS1226 P02652 2415515 MGI:88050 RGD:2131 107670 188814 HGNC:601 "ENST00000367990.7|NM_001643.2" HGNC:601 +HGNC:602 APOA4 apolipoprotein A4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 apolipoprotein A-IV Apolipoproteins 405 2001-06-22 2016-04-26 2020-09-17 337 ENSG00000110244 OTTHUMG00000046110 uc001pps.2 NM_000482 CCDS31681 P06727 MGI:88051 RGD:2132 107690 469952 HGNC:602 "ENST00000357780.5|NM_000482.4" +HGNC:17288 APOA5 apolipoprotein A5 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "RAP3|APOA-V" apolipoprotein A-V Apolipoproteins 405 2001-12-11 2016-04-26 2021-05-26 116519 ENSG00000110243 OTTHUMG00000046116 uc001ppr.4 AF202889 NM_001166598 CCDS8376 Q6Q788 "11588264|11577099" MGI:1913363 RGD:70903 606368 121382 HGNC:17288 "ENST00000227665.9|NM_001371904.1" HGNC:17288 +HGNC:603 APOB apolipoprotein B protein-coding gene gene with protein product Approved 2p24.1 02p24.1 apolipoprotein B (including Ag(x) antigen) Apolipoproteins 405 2001-06-22 2013-05-29 2021-05-26 338 ENSG00000084674 OTTHUMG00000090785 uc002red.3 M14162 NM_000384 CCDS1703 P04114 MGI:88052 RGD:2129 107730 121386 HGNC:603 "ENST00000233242.5|NM_000384.3" HGNC:603 +HGNC:604 APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "BEDP|CDAR1|APOBEC-1|HEPR" apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 Apolipoprotein B mRNA editing enzyme catalytic subunits 406 1994-07-26 2016-03-07 2020-09-17 339 ENSG00000111701 OTTHUMG00000141288 uc001qtb.4 U72891 NM_001644 CCDS8579 P41238 MGI:103298 RGD:2133 600130 HGNC:604 "ENST00000229304.5|NM_001644.5" +HGNC:605 APOBEC2 apolipoprotein B mRNA editing enzyme catalytic subunit 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "ARCD1|ARP1" apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 Apolipoprotein B mRNA editing enzyme catalytic subunits 406 1999-08-12 2016-03-07 2020-09-17 10930 ENSG00000124701 OTTHUMG00000014670 uc003opl.4 AF161698 NM_006789 CCDS4848 Q9Y235 10403781 MGI:1343178 RGD:1308727 604797 HGNC:605 "ENST00000244669.3|NM_006789.4" +HGNC:17343 APOBEC3A apolipoprotein B mRNA editing enzyme catalytic subunit 3A protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "ARP3|PHRBN" phorbolin I apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2016-10-05 200315 ENSG00000128383 OTTHUMG00000151004 uc011aoc.3 U03891 NM_145699 CCDS13981 P31941 "11863358|10469298" 607109 HGNC:17343 "ENST00000249116.7|NM_145699.4" +HGNC:44196 APOBEC3A_B APOBEC3A and APOBEC3B deletion hybrid protein-coding gene gene with protein product Approved 22q13 alternate reference locus 22q13 alternate reference locus Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2012-10-13 2014-01-23 100913187 GL383583 NM_001193289 "19788695|17447845" +HGNC:43835 APOBEC3AP1 apolipoprotein B mRNA editing enzyme catalytic subunit 3A pseudogene 1 pseudogene pseudogene Approved 4q33 04q33 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A pseudogene 1 2012-03-23 2016-03-07 2016-03-07 105377532 ENSG00000248822 OTTHUMG00000160902 NG_046667 PGOHUM00000259961 HGNC:43835 +HGNC:17352 APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "PHRBNL|FLJ21201" phorbolin 3 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B "Apolipoprotein B mRNA editing enzyme catalytic subunits|Minor histocompatibility antigens" "406|870" 2001-12-12 2016-03-07 2016-10-05 9582 ENSG00000179750 OTTHUMG00000151085 uc003awo.3 AK024854 NM_004900 "CCDS58807|CCDS13982" Q9UH17 "11863358|10469298" MGI:1933111 APOBEC3B 607110 HGNC:17352 "ENST00000333467.4|NM_004900.5" +HGNC:43836 APOBEC3B-AS1 APOBEC3B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 APOBEC3B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-23 2012-08-15 2012-10-12 100874530 ENSG00000249310 OTTHUMG00000151083 uc032qpc.2 CX754295 NR_104187 APOBEC3B-AS1 HGNC:43836 +HGNC:17353 APOBEC3C apolipoprotein B mRNA editing enzyme catalytic subunit 3C protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "APOBEC1L|PBI|bK150C2.3|ARDC2|ARDC4|ARP5" apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2016-10-05 27350 ENSG00000244509 OTTHUMG00000151087 uc003awr.4 AF165520 NM_014508 CCDS13983 Q9NRW3 11863358 607750 HGNC:17353 "ENST00000361441.5|NM_014508.3" +HGNC:17354 APOBEC3D apolipoprotein B mRNA editing enzyme catalytic subunit 3D protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "ARP6|APOBEC3DE" APOBEC3E "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D" Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2017-05-11 140564 ENSG00000243811 OTTHUMG00000192151 uc062ejh.1 BF832090 NM_152426 "CCDS87027|CCDS46709" Q96AK3 11863358 MGI:1933111 609900 HGNC:17354 "ENST00000216099.13|NM_152426.4" +HGNC:17356 APOBEC3F apolipoprotein B mRNA editing enzyme catalytic subunit 3F protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "ARP8|BK150C2.4.MRNA|KA6" apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2016-10-05 200316 ENSG00000128394 OTTHUMG00000151080 uc003aww.4 BC038808 NM_145298 "CCDS33648|CCDS33649" Q8IUX4 "11863358|17121840" MGI:1933111 608993 HGNC:17356 "ENST00000308521.10|NM_145298.6" +HGNC:17357 APOBEC3G apolipoprotein B mRNA editing enzyme catalytic subunit 3G protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "CEM15|MDS019|dJ494G10.1|FLJ12740|bK150C2.7" DNA dC->dU-editing enzyme APOBEC-3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2001-12-12 2016-03-07 2016-10-05 60489 ENSG00000239713 OTTHUMG00000151081 uc021wpr.2 AF182420 NM_021822 CCDS13984 Q9HC16 11863358 607113 HGNC:17357 "ENST00000407997.4|NM_021822.4" +HGNC:24100 APOBEC3H apolipoprotein B mRNA editing enzyme catalytic subunit 3H protein-coding gene gene with protein product Approved 22q13.1 22q13.1 ARP10 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2007-01-26 2016-03-07 2016-03-07 164668 ENSG00000100298 OTTHUMG00000151082 uc021wpu.2 BC069023 NM_181773 "CCDS13985|CCDS54531|CCDS54530|CCDS54532" Q6NTF7 16571802 RGD:1307800 610976 HGNC:24100 "ENST00000442487.8|NM_181773.5" +HGNC:32152 APOBEC4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "MGC26594|FLJ25691|RP1-127C7.4" C1orf169 "chromosome 1 open reading frame 169|apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)" Apolipoprotein B mRNA editing enzyme catalytic subunits 406 2005-07-20 2005-10-27 2016-03-07 2016-03-07 403314 ENSG00000173627 OTTHUMG00000035459 uc001gqn.4 BC021711 NM_203454 CCDS1358 Q8WW27 16082223 MGI:1918531 RGD:1560256 609908 HGNC:32152 "ENST00000308641.6|NM_203454.3" +HGNC:24087 APOBR apolipoprotein B receptor protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "APOB48R|APOB100R" "apolipoprotein B48 receptor|apolipoprotein B100 receptor" 2011-02-14 2016-10-05 55911 ENSG00000184730 OTTHUMG00000172705 uc002dqb.2 AK025123 NM_182804 CCDS58442 Q0VD83 10852956 MGI:2176230 RGD:1565169 605220 HGNC:24087 "ENST00000564831.6|NM_018690.4" +HGNC:607 APOC1 apolipoprotein C1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 apolipoprotein C-I Apolipoproteins 405 2001-06-22 2016-04-26 2020-09-17 341 ENSG00000130208 OTTHUMG00000180844 uc002pac.2 X00570 NM_001321065 CCDS12648 P02654 MGI:88053 RGD:2134 107710 HGNC:607 "ENST00000592535.6|NM_001645.5" +HGNC:608 APOC1P1 apolipoprotein C1 pseudogene 1 pseudogene pseudogene Approved 19q13.32 19q13.32 lincRNA-APOC1P1-3 apolipoprotein C-I pseudogene 1 2001-06-22 2016-04-26 2018-07-20 342 ENSG00000214855 OTTHUMG00000177534 M20903 NR_028412 27228351 PGOHUM00000263463 HGNC:608 +HGNC:609 APOC2 apolipoprotein C2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 apolipoprotein C-II Apolipoproteins 405 2001-06-22 2016-04-26 2021-05-26 344 ENSG00000234906 OTTHUMG00000180847 uc060zux.1 X00568 NM_000483 CCDS12650 P02655 MGI:88054 RGD:2135 608083 121388 HGNC:609 "ENST00000252490.7|NM_000483.5" HGNC:609 +HGNC:610 APOC3 apolipoprotein C3 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "Apo-CIII|ApoC-III|APOCIII|Apo-C3|ApoC-3" apolipoprotein C-III Apolipoproteins 405 2001-06-22 2016-04-26 2021-11-16 345 ENSG00000110245 OTTHUMG00000046115 uc001ppt.2 X01388 NM_000040 CCDS8377 P02656 4846755 MGI:88055 RGD:2136 107720 160053 HGNC:610 "ENST00000227667.8|NM_000040.3" HGNC:610 +HGNC:611 APOC4 apolipoprotein C4 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 apolipoprotein C-IV Apolipoproteins 405 1995-05-08 2016-04-26 2020-09-17 346 ENSG00000267467 OTTHUMG00000180845 uc060zuq.1 U32576 NM_001646 CCDS12649 P55056 8530039 MGI:87878 RGD:70959 600745 HGNC:611 "ENST00000592954.2|NM_001646.3" +HGNC:44426 APOC4-APOC2 APOC4-APOC2 readthrough (NMD candidate) other readthrough Approved 19q13.32 19q13.32 APOC4-APOC2 readthrough 2013-05-14 2013-09-30 2013-09-30 100533990 ENSG00000224916 OTTHUMG00000180846 NR_037932 HGNC:44426 +HGNC:612 APOD apolipoprotein D protein-coding gene gene with protein product Approved 3q29 03q29 Apo-D "Apolipoproteins|Lipocalins" "405|631" 2001-06-22 2021-11-16 347 ENSG00000189058 OTTHUMG00000155854 uc003fur.2 NM_001647 CCDS33925 P05090 "2439269|3453108|56198" MGI:88056 RGD:2137 107740 HGNC:612 "ENST00000343267.8|NM_001647.4" +HGNC:613 APOE apolipoprotein E protein-coding gene gene with protein product Approved 19q13.32 19q13.32 AD2 Alzheimer disease 2 (APOE*E4-associated, late onset) Apolipoproteins 405 2001-06-22 2021-05-26 348 ENSG00000130203 OTTHUMG00000128901 uc002pab.4 K00396 NM_000041 CCDS12647 P02649 10662539 MGI:88057 RGD:2138 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 107741 121390 HGNC:613 "ENST00000252486.9|NM_000041.4" HGNC:613 +HGNC:615 APOF apolipoprotein F protein-coding gene gene with protein product Approved 12q13.3 12q13.3 Apolipoproteins 405 1994-11-16 2020-09-17 319 ENSG00000175336 OTTHUMG00000170715 uc001sle.2 L27050 NM_001638 CCDS44923 Q13790 8093033 MGI:104539 RGD:1560713 107760 HGNC:615 "ENST00000398189.4|NM_001638.4" +HGNC:616 APOH apolipoprotein H protein-coding gene gene with protein product Approved 17q24.2 17q24.2 BG beta-2-glycoprotein I B2G1 apolipoprotein H (beta-2-glycoprotein I) "Apolipoproteins|Sushi domain containing" "405|1179" 1987-09-11 2015-12-17 2020-09-17 350 ENSG00000091583 OTTHUMG00000179530 uc002jfn.5 NM_000042 CCDS11663 P02749 1582254 MGI:88058 RGD:1310625 138700 HGNC:616 "ENST00000205948.11|NM_000042.3" +HGNC:618 APOL1 apolipoprotein L1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 APOL apolipoprotein L Apolipoproteins 405 1998-12-03 2015-11-13 2021-05-26 8542 ENSG00000100342 OTTHUMG00000030427 uc011amq.3 AF019225 NM_145343 "CCDS13926|CCDS46702|CCDS13925" O14791 "9325276|11374903|16020735" "MGI:1920912|MGI:1923011|MGI:2444921|MGI:3036238|MGI:3036248|MGI:3043522|MGI:3583950|MGI:3606001|MGI:3649094|MGI:3704456" LRG_169|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_169.xml 603743 240672 HGNC:618 "ENST00000397278.8|NM_003661.4" +HGNC:619 APOL2 apolipoprotein L2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 APOL-II apolipoprotein L-II Apolipoproteins 405 1999-10-29 2015-12-15 2021-11-05 23780 ENSG00000128335 OTTHUMG00000150634 uc003apa.4 AF324224 NM_145637 CCDS43014 Q9BQE5 "10591208|11374903|11944986" "MGI:1920912|MGI:1923011|MGI:3036238|MGI:3036248|MGI:3043522|MGI:3583950|MGI:3606001|MGI:3649094|MGI:3704456" RGD:6490440 607252 HGNC:619 "ENST00000358502.10|NM_030882.4" HGNC:619 +HGNC:14868 APOL3 apolipoprotein L3 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "CG12-1|APOLIII" Apolipoproteins 405 2001-03-21 2015-12-15 2016-10-05 80833 ENSG00000128284 OTTHUMG00000150632 uc003aot.4 AF305227 NM_145641 "CCDS13923|CCDS13922|CCDS13924" O95236 11374903 "MGI:1919148|MGI:1920912|MGI:1923011|MGI:2444921|MGI:3036238|MGI:3036248|MGI:3043522|MGI:3583950|MGI:3606001|MGI:3649094|MGI:3704456" RGD:1306480 607253 HGNC:14868 +HGNC:14867 APOL4 apolipoprotein L4 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 APOLIV Apolipoproteins 405 2001-03-21 2015-12-15 2016-10-05 80832 ENSG00000100336 OTTHUMG00000150630 uc032qnf.2 AF305226 NM_145660 "CCDS74851|CCDS74852" Q9BPW4 11374903 "MGI:1920912|MGI:1923011|MGI:2444921|MGI:3036238|MGI:3036248|MGI:3043522|MGI:3583950|MGI:3606001|MGI:3649094|MGI:3704456" 607254 HGNC:14867 "ENST00000683024.1|NM_001386885.1" +HGNC:14869 APOL5 apolipoprotein L5 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 APOLV Apolipoproteins 405 2001-03-21 2015-12-15 2015-12-15 80831 ENSG00000128313 OTTHUMG00000150588 uc003aof.4 AY014878 NM_030642 CCDS13920 Q9BWW9 11374903 607255 HGNC:14869 "ENST00000249044.2|NM_030642.1" +HGNC:14870 APOL6 apolipoprotein L6 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "APOL-VI|APOLVI" Apolipoproteins 405 2001-03-21 2015-12-15 2015-12-15 80830 ENSG00000221963 OTTHUMG00000150615 uc003aoe.4 AY014879 NM_030641 CCDS13919 Q9BWW8 "11374903|15671246" MGI:1919189 607256 HGNC:14870 "ENST00000409652.5|NM_030641.4" +HGNC:25268 APOLD1 apolipoprotein L domain containing 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "FLJ25138|DKFZP434F0318" MicroRNA protein coding host genes 1691 2006-01-23 2006-01-23 2016-10-05 81575 ENSG00000178878 OTTHUMG00000153561 uc001raw.5 AL136783 NM_030817 "CCDS44833|CCDS8654" Q96LR9 11230166 MGI:2685921 RGD:1303123 612456 HGNC:25268 "ENST00000356591.5|NM_030817.3" +HGNC:13916 APOM apolipoprotein M protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G3a|NG20" "Apolipoproteins|Lipocalins" "405|631" 2002-08-02 2020-04-30 55937 ENSG00000204444 OTTHUMG00000031250 uc003nvl.4 AJ245434 NM_019101 "CCDS59004|CCDS4710" O95445 "10531326|11418126" MGI:1930124 RGD:620773 606907 HGNC:13916 "ENST00000375916.4|NM_019101.3" +HGNC:53942 APONP apolipoprotein N, pseudogene pseudogene pseudogene Approved 12q13.3 12q13.3 2018-06-19 2018-06-19 100419033 ENSG00000274823 OTTHUMG00000188037 NG_024021 15256496 MGI:88931 PGOHUM00000291363 HGNC:53942 +HGNC:28727 APOO apolipoprotein O protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "MGC4825|My025|Mic23|MIC26|MICOS26" mitochondrial contact site and cristae organizing system subunit 26 FAM121B family with sequence similarity 121B "Apolipoproteins|Mitochondrial contact site and cristae organizing system subunits" "405|1616" 2006-07-11 2007-01-17 2007-01-17 2020-04-02 79135 ENSG00000184831 OTTHUMG00000021259 uc004dax.4 BC016814 NM_024122 CCDS14208 Q9BUR5 "16956892|25764979|25781180" MGI:1915566 RGD:1565289 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/APOO 300753 HGNC:28727 "ENST00000379226.9|NM_024122.5" HGNC:28727 +HGNC:24009 APOOL apolipoprotein O like protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "UNQ8193|AAIR8193|Mic27|MICOS27" mitochondrial contact site and cristae organizing system subunit 27 "CXorf33|FAM121A" "chromosome X open reading frame 33|family with sequence similarity 121A" Mitochondrial contact site and cristae organizing system subunits 1616 2004-08-16 2007-01-17 2016-02-15 2020-04-02 139322 ENSG00000155008 OTTHUMG00000021930 uc004eem.4 AK130506 NM_198450 CCDS48138 Q6UXV4 23704930 MGI:1915367 RGD:1549725 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/APOOL 300955 HGNC:24009 "ENST00000373173.7|NM_198450.6" +HGNC:48739 APOOP1 apolipoprotein O pseudogene 1 pseudogene pseudogene Approved 5q33.3 05q33.3 2013-06-07 2016-11-09 100286948 ENSG00000270560 OTTHUMG00000184530 NR_028472 PGOHUM00000301168 HGNC:48739 +HGNC:48740 APOOP2 apolipoprotein O pseudogene 2 pseudogene pseudogene Approved 3p11.2 03p11.2 2013-06-07 2013-06-07 100129005 ENSG00000240902 OTTHUMG00000158993 NG_012899 PGOHUM00000238093 HGNC:48740 +HGNC:48741 APOOP3 apolipoprotein O pseudogene 3 pseudogene pseudogene Approved 12q14.3 12q14.3 2013-06-07 2013-06-07 100131528 ENSG00000255700 OTTHUMG00000168865 NG_012898 PGOHUM00000239834 HGNC:48741 +HGNC:48742 APOOP4 apolipoprotein O pseudogene 4 pseudogene pseudogene Approved 4q13.2 04q13.2 2013-06-07 2013-06-07 100128725 ENSG00000248122 OTTHUMG00000160819 NG_012897 PGOHUM00000245560 HGNC:48742 +HGNC:48743 APOOP5 apolipoprotein O pseudogene 5 pseudogene pseudogene Approved 16q21 16q21 2013-06-07 2015-01-29 644649 ENSG00000260240 OTTHUMG00000173108 NR_028471 PGOHUM00000293621 HGNC:48743 +HGNC:620 APP amyloid beta precursor protein protein-coding gene gene with protein product Approved 21q21.3 21q21.3 alpha-sAPP peptidase nexin-II AD1 "Alzheimer disease|amyloid beta (A4) precursor protein" Receptor ligands 542 1986-01-01 2016-01-14 2021-01-26 351 ENSG00000142192 OTTHUMG00000078438 uc002ylz.4 M15533 NM_000484 "CCDS56211|CCDS56213|CCDS46638|CCDS13576|CCDS13577|CCDS33523|CCDS46639|CCDS56212" P05067 1679289 MGI:88059 RGD:2139 Alzheimer Disease & Frontotemporal Dementia Mutation Database|http://www.molgen.ua.ac.be/ADMutations/ 104760 121393 I02.015 ligandId:4865 HGNC:620 "ENST00000346798.8|NM_000484.4" HGNC:620 +HGNC:55075 APP-DT APP divergent transcript non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 Divergent transcripts 1990 2020-06-12 2020-11-11 118568803 ENSG00000273492 +HGNC:622 APPBP2 amyloid beta precursor protein binding protein 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "KIAA0228|Hs.84084|PAT1" protein interacting with APP tail 1 "amyloid beta precursor protein (cytoplasmic tail)-binding protein 2|amyloid beta precursor protein (cytoplasmic tail) binding protein 2" 1999-06-25 2016-01-21 2020-09-17 10513 ENSG00000062725 OTTHUMG00000180048 uc002iys.3 AF017782 NM_006380 CCDS32699 Q92624 9843960 MGI:1914134 RGD:1306488 605324 HGNC:622 "ENST00000083182.8|NM_006380.5" +HGNC:55423 APPBP2-DT APPBP2 divergent transcript non-coding RNA RNA, long non-coding Approved 17q23.2 17q23.2 Divergent transcripts 1990 2021-01-07 2021-11-11 120017341 ENSG00000259349 +HGNC:24035 APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 APPL DCC-interacting protein 13-alpha adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 BAR-PH domain containing 1291 2007-01-26 2016-03-14 2016-03-14 26060 ENSG00000157500 OTTHUMG00000133756 uc003dio.4 AB037849 NM_012096 CCDS2882 Q9UKG1 "10490823|17030088" MGI:1920243 RGD:1309388 604299 436880 HGNC:24035 "ENST00000288266.8|NM_012096.3" HGNC:24035 +HGNC:18242 APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ10659|DIP13B" DCC-interacting protein 13-beta adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 BAR-PH domain containing 1291 2007-01-26 2016-03-14 2016-03-14 55198 ENSG00000136044 OTTHUMG00000169853 uc001tlf.2 AY113704 NM_018171 "CCDS58276|CCDS9101|CCDS58275" Q8NEU8 "11431708|17030088" MGI:2384914 RGD:1563028 606231 HGNC:18242 "ENST00000258530.8|NM_018171.5" +HGNC:24082 APRG1 APRG1 tumor suppressor candidate non-coding RNA RNA, long non-coding Approved 3p22.2 03p22.2 AP20 region protein C3orf35 chromosome 3 open reading frame 35 Long non-coding RNAs with non-systematic symbols 1992 2006-01-02 2021-06-10 2021-06-10 2021-06-10 339883 ENSG00000198590 OTTHUMG00000155923 uc062ida.1 AJ493599 NR_126512 Q8IVJ8 12543795 611429 HGNC:24082 +HGNC:626 APRT adenine phosphoribosyltransferase protein-coding gene gene with protein product Approved 16q24.3 16q24.3 2001-06-22 2021-05-26 353 ENSG00000198931 OTTHUMG00000175454 uc002flv.4 NM_000485 "CCDS32511|CCDS45546" P07741 MGI:88061 RGD:1307758 102600 121400 2.4.2.7 HGNC:626 "ENST00000378364.8|NM_000485.3" HGNC:626 +HGNC:44173 APTR Alu-mediated CDKN1A/p21 transcriptional regulator non-coding RNA RNA, long non-coding Approved 7q11.23 07q11.23 RSBN1L-AS1 "RSBN1L antisense RNA 1 (non-protein coding)|Alu-mediated CDKN1A/p21 transcriptional regulator (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2012-06-30 2014-04-22 2018-05-16 2018-05-16 100505854 ENSG00000214293 OTTHUMG00000162596 AF290475 NR_038361 24748121 RGD:9685233 616048 APTR HGNC:44173 +HGNC:15984 APTX aprataxin protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "FLJ20157|AOA|AOA1|EAOH|EOAHA" AXA1 ataxia 1, early onset with hypoalbuminemia Histidine triad superfamily 1811 2001-07-16 2003-04-03 2021-05-26 54840 ENSG00000137074 OTTHUMG00000019759 uc064snf.1 AK000164 NM_001368995 "CCDS75827|CCDS47956" Q7Z2E3 "11586299|11586300" MGI:1913658 RGD:628740 606350 121402 HGNC:15984 "ENST00000379817.7|NM_001195248.2" HGNC:15984 +HGNC:633 AQP1 aquaporin 1 (Colton blood group) protein-coding gene gene with protein product Approved 7p14.3 07p14.3 CHIP28 CO "Colton blood group|aquaporin 1 (channel-forming integral protein, 28kDa)|aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)|aquaporin 1" "Aquaporins|Blood group antigens" "305|454" 1993-07-09 2014-01-02 2021-05-26 358 ENSG00000240583 OTTHUMG00000023944 uc003tbv.3 M77829 NM_198098 CCDS5431 P29972 "1722319|3166547" MGI:103201 RGD:2141 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_808|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_808.xml" 107776 objectId:688 HGNC:633 "ENST00000311813.11|NM_198098.4" HGNC:633 +HGNC:634 AQP2 aquaporin 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 aquaporin 2 (collecting duct) Aquaporins 305 1993-07-09 2016-01-15 2021-05-26 359 ENSG00000167580 OTTHUMG00000169709 uc001rvn.4 NM_000486 CCDS8792 P41181 7512890 MGI:1096865 RGD:2142 LRG_717|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_717.xml 107777 121410 objectId:689 HGNC:634 "ENST00000199280.4|NM_000486.6" HGNC:634 +HGNC:636 AQP3 aquaporin 3 (Gill blood group) protein-coding gene gene with protein product Approved 9p13.3 09p13.3 GIL Gill blood group "aquaporin 3|aquaporin 3 (GIL blood group)" "Aquaporins|Blood group antigens" "305|454" 1994-07-25 2006-02-23 2021-05-26 360 ENSG00000165272 OTTHUMG00000019769 uc003zsx.4 NM_004925 "CCDS6542|CCDS87649" Q92482 7558005 MGI:1333777 RGD:68428 LRG_821|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_821.xml 600170 objectId:690 HGNC:636 "ENST00000297991.6|NM_004925.5" +HGNC:637 AQP4 aquaporin 4 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "MIWC|AQP-4|hAQP4" Mercurial-insensitive water channel Aquaporins 305 1994-07-25 2021-11-15 361 ENSG00000171885 OTTHUMG00000131955 uc002kwa.4 U63622 "NM_001650|NM_004028" "CCDS11889|CCDS58617" P55087 7528931 MGI:107387 RGD:2143 600308 objectId:691 HGNC:637 "ENST00000383168.9|NM_001650.7" HGNC:637 +HGNC:26399 AQP4-AS1 AQP4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 FLJ30507 "C18orf16|CHST9-AS1" "chromosome 18 open reading frame 16|CHST9 antisense RNA 1" Antisense RNAs 1987 2004-04-30 2012-10-03 2012-10-03 2022-02-22 147429 ENSG00000260372 OTTHUMG00000131954 uc010xbm.3 AK055069 NR_026908 35172268 AQP4-AS1 HGNC:26399 +HGNC:638 AQP5 aquaporin 5 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 Aquaporins 305 1994-07-25 2021-05-26 362 ENSG00000161798 OTTHUMG00000169710 uc001rvo.4 U46569 NM_001651 CCDS8793 P55064 "8621489|23830519" MGI:106215 RGD:2144 600442 363071 objectId:692 HGNC:638 "ENST00000293599.7|NM_001651.4" HGNC:638 +HGNC:55474 AQP5-AS1 AQP5 and AQP2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 Antisense RNAs 1987 2021-03-11 2021-03-11 101927318 ENSG00000257588 NR_110590 +HGNC:639 AQP6 aquaporin 6 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 AQP2L aquaporin 6, kidney specific Aquaporins 305 1996-08-21 2015-11-27 2020-09-17 363 ENSG00000086159 OTTHUMG00000133548 uc058nuf.1 AL137716 "NM_001652|NM_053286" CCDS31798 Q13520 8812490 MGI:1341204 RGD:71100 601383 objectId:693 HGNC:639 "ENST00000315520.10|NM_001652.4" +HGNC:640 AQP7 aquaporin 7 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "AQP9|AQPap" AQP7L Aquaporins 305 1997-04-10 2020-09-17 364 ENSG00000165269 OTTHUMG00000019773 uc003zst.3 AB006190 NM_001170 "CCDS83356|CCDS83354|CCDS83353|CCDS6541" O14520 9252401 MGI:1314647 RGD:2145 602974 objectId:694 HGNC:640 "ENST00000297988.6|NM_001170.3" +HGNC:53895 AQP7B aquaporin 7B protein-coding gene gene with protein product Approved 2q11.1 02q11.1 2021-11-10 2021-11-10 100509620 ENSG00000259916 OTTHUMG00000175552 NM_001382497 +HGNC:32048 AQP7P1 aquaporin 7 pseudogene 1 pseudogene pseudogene Approved 9q13 09q13 2005-08-09 2016-10-05 375719 ENSG00000186466 OTTHUMG00000013312 XM_372110 11952783 PGOHUM00000236163 HGNC:32048 +HGNC:32049 AQP7P2 aquaporin 7 pseudogene 2 pseudogene pseudogene Approved 9q13 09q13 2005-08-09 2016-10-05 389756 ENSG00000181997 OTTHUMG00000013329 XM_497059 11952783 PGOHUM00000236181 HGNC:32049 +HGNC:31976 AQP7P3 aquaporin 7 pseudogene 3 pseudogene pseudogene Approved 9q21.11 09q21.11 AQPap-3 2005-08-09 2015-07-31 441432 ENSG00000279688 OTTHUMG00000189282 NG_005142 A6NL99 11952783 MGI:1314647 PGOHUM00000306166 HGNC:31976 +HGNC:32056 AQP7P4 aquaporin 7 pseudogene 4 pseudogene pseudogene Approved 9q13 09q13 2005-08-09 2014-11-18 100132938 ENSG00000176115 OTTHUMG00000013311 NG_021659 PGOHUM00000260514 HGNC:32056 +HGNC:51836 AQP7P5 aquaporin 7 pseudogene 5 pseudogene pseudogene Approved 9p11.2 09p11.2 2015-07-31 2018-05-16 102724655 ENSG00000278122 OTTHUMG00000013285 NG_055548 PGOHUM00000303815 HGNC:51836 +HGNC:642 AQP8 aquaporin 8 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 Aquaporins 305 1997-06-09 2020-09-17 343 ENSG00000103375 OTTHUMG00000097013 uc002doc.4 BC040630 NM_001169 CCDS10626 O94778 "9806845|10393433" MGI:1195271 RGD:2146 603750 469956 objectId:695 HGNC:642 "ENST00000219660.6|NM_001169.3" +HGNC:643 AQP9 aquaporin 9 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "SSC1|HsT17287" Aquaporins 305 1997-08-28 2020-09-17 366 ENSG00000103569 OTTHUMG00000132631 uc002aez.3 AF016495 NM_020980 "CCDS10165|CCDS81887" O43315 MGI:1891066 RGD:68433 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=AQP9 602914 objectId:696 HGNC:643 "ENST00000219919.9|NM_020980.5" +HGNC:16029 AQP10 aquaporin 10 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Aquaporins 305 2001-07-04 2014-11-18 89872 ENSG00000143595 OTTHUMG00000035980 uc001feu.3 AF159174 NM_080429 CCDS1065 Q96PS8 11573934 RGD:1596307 606578 objectId:697 HGNC:16029 "ENST00000324978.8|NM_080429.3" +HGNC:19940 AQP11 aquaporin 11 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 AQPX1 Aquaporins 305 2002-12-09 2021-10-28 282679 ENSG00000178301 OTTHUMG00000165194 uc001oyj.4 AB028147 NM_173039 CCDS8251 Q8NBQ7 16107722 MGI:1913583 RGD:628763 609914 objectId:3062 HGNC:19940 "ENST00000313578.4|NM_173039.3" HGNC:19940 +HGNC:19941 AQP12A aquaporin 12A protein-coding gene gene with protein product Approved 2q37.3 02q37.3 AQP12 aquaporin 12 Aquaporins 305 2002-12-09 2005-05-26 2005-05-26 2015-08-28 375318 ENSG00000184945 OTTHUMG00000183906 uc061ujk.1 AB040748 NM_198998 Q8IXF9 MGI:2664636 RGD:1562727 609789 HGNC:19941 "ENST00000337801.9|NM_198998.3" +HGNC:6096 AQP12B aquaporin 12B protein-coding gene gene with protein product Approved 2q37.3 02q37.3 INSSA3 insulin synthesis associated 3 Aquaporins 305 2000-03-29 2005-05-26 2005-05-26 2015-09-10 653437 ENSG00000185176 OTTHUMG00000152263 uc010fzj.4 BC041460 NM_001102467 CCDS46560 A6NM10 MGI:2664636 HGNC:6096 "ENST00000407834.4|NM_001102467.2" +HGNC:29513 AQR aquarius intron-binding spliceosomal factor protein-coding gene gene with protein product Approved 15q14 15q14 "KIAA0560|fSAP164|IBP160" functional spliceosome-associated protein 164 aquarius homolog (mouse) "UPF1 like RNA helicases|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1169|1507|1508|1510|1516" 2004-06-24 2013-09-12 2016-01-15 9716 ENSG00000021776 OTTHUMG00000172257 uc001ziv.4 AB011132 NM_014691 CCDS42013 O60306 "9626505|16949364" MGI:1276102 RGD:1306223 610548 HGNC:29513 "ENST00000156471.10|NM_014691.3" +HGNC:644 AR androgen receptor protein-coding gene gene with protein product Approved Xq12 Xq12 "AIS|NR3C4|SMAX1|HUMARA" "testicular feminization|Kennedy disease" "DHTR|SBMA" "dihydrotestosterone receptor|spinal and bulbar muscular atrophy" Nuclear receptor subfamily 3 group C 2076 1986-01-01 2008-08-07 2021-04-13 367 ENSG00000169083 OTTHUMG00000021740 uc004dwu.3 M20132 NM_000044 "CCDS14387|CCDS87754|CCDS87755|CCDS43965" P10275 "3353726|3377788" MGI:88064 RGD:2147 "Androgen Receptor|http://androgendb.mcgill.ca/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AR|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_1406|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1406.xml" AR 313700 132285 objectId:628 HGNC:644 "ENST00000374690.9|NM_000044.6" HGNC:644 +HGNC:646 ARAF A-Raf proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 ARAF1 v-raf murine sarcoma 3611 viral oncogene homolog 1 "Mitogen-activated protein kinase kinase kinases|RAF family" "654|1157" 1986-01-01 2005-01-19 2014-06-26 2020-09-17 369 ENSG00000078061 OTTHUMG00000021446 uc064yvp.1 X04790 NM_001256196 "CCDS59164|CCDS35232|CCDS75970" P10398 MGI:88065 RGD:2148 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARAF 311010 objectId:1933 HGNC:646 "ENST00000377045.9|NM_001654.5" HGNC:646 +HGNC:50824 ARAFP1 ARAF pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2014-06-26 2015-07-30 100421741 ENSG00000231264 OTTHUMG00000188127 NG_026477 PGOHUM00000232806 HGNC:50824 +HGNC:647 ARAFP2 ARAF pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 PKS1 "ARAF2|ARAFPS|ARAF2P" "v-raf murine sarcoma 3611 viral oncogene homolog pseudogene|v-raf murine sarcoma 3611 viral oncogene homolog 2, pseudogene" 1986-01-01 2014-06-26 2014-06-26 2014-11-19 644000 ENSG00000224368 OTTHUMG00000156379 NG_008381 1505215 PGOHUM00000232787 HGNC:647 +HGNC:35474 ARAFP3 ARAF pseudogene 3 pseudogene pseudogene Approved 7q11.21 07q11.21 ARAF3P v-raf murine sarcoma 3611 viral oncogene homolog 3, pseudogene 2009-04-15 2014-06-26 2014-06-26 2014-06-26 285893 ENSG00000227298 OTTHUMG00000156266 AC006455 NG_003157 PGOHUM00000233315 HGNC:35474 +HGNC:16925 ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 CENTD2 centaurin, delta 2 "ArfGAPs|Ankyrin repeat domain containing|Pleckstrin homology domain containing|Sterile alpha motif domain containing" "395|403|682|760" 2001-10-29 2008-09-22 2008-09-22 2021-11-09 116985 ENSG00000186635 OTTHUMG00000157102 uc001osu.4 AF411983 NM_001040118 "CCDS44671|CCDS41687|CCDS8217" Q96P48 11804590 MGI:1916960 RGD:1310385 606646 HGNC:16925 "ENST00000393609.8|NM_001040118.3" +HGNC:39993 ARAP1-AS1 ARAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 ARAP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2019-07-12 100874075 ENSG00000256007 OTTHUMG00000167950 uc058fck.1 31173500 ARAP1-AS1 +HGNC:39994 ARAP1-AS2 ARAP1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 ARAP1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100506020 ENSG00000245148 OTTHUMG00000167951 uc058fcw.1 NR_146780 ARAP1-AS2 HGNC:39994 +HGNC:16924 ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 protein-coding gene gene with protein product Approved 4p14 04p14 PARX CENTD1 centaurin, delta 1 "ArfGAPs|Ankyrin repeat domain containing|Pleckstrin homology domain containing|Sterile alpha motif domain containing" "395|403|682|760" 2001-10-29 2008-09-22 2008-09-22 2021-11-09 116984 ENSG00000047365 OTTHUMG00000097811 uc003gsq.3 AF411982 NM_015230 CCDS3441 Q8WZ64 11804590 MGI:2684416 RGD:1306452 606645 HGNC:16924 "ENST00000303965.9|NM_015230.4" +HGNC:24097 ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "FLJ21065|DRAG1" CENTD3 centaurin, delta 3 "ArfGAPs|Ankyrin repeat domain containing|Pleckstrin homology domain containing|Sterile alpha motif domain containing" "395|403|682|760" 2005-01-10 2008-09-22 2008-09-22 2015-09-11 64411 ENSG00000120318 OTTHUMG00000129610 uc003llm.4 AJ310567 NM_022481 CCDS4266 Q8WWN8 "11804589|12015138" MGI:2147274 RGD:1304938 606647 HGNC:24097 "ENST00000239440.9|NM_022481.6" +HGNC:648 ARC activity regulated cytoskeleton associated protein protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KIAA0278|Arg3.1" Gag like LTR retrotransposon derived genes 1411 2000-05-23 2016-06-24 2020-09-17 23237 ENSG00000198576 OTTHUMG00000134310 uc003ywn.2 AF193421 NM_015193 CCDS34950 Q7LC44 "10970730|17466953" MGI:88067 RGD:62037 612461 HGNC:648 "ENST00000356613.4|NM_015193.5" +HGNC:649 ARCN1 archain 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 COPI coat complex subunit delta COPD coatomer protein complex, subunit delta COPI coat complex 1917 1994-08-29 2003-01-29 2020-09-17 372 ENSG00000095139 OTTHUMG00000166340 uc001ptq.4 X81197 NM_001142281 "CCDS44749|CCDS8400" P48444 "7782067|8854871" MGI:2387591 RGD:1359110 600820 469958 HGNC:649 "ENST00000264028.5|NM_001655.5" HGNC:649 +HGNC:651 AREG amphiregulin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SDGF|AREGB" "schwannoma-derived growth factor|amphiregulin B" Receptor ligands 542 1989-05-19 2008-08-01 2020-09-17 374 ENSG00000109321 OTTHUMG00000130006 uc032tme.2 M30704 NM_001657 CCDS3565 P15514 MGI:88068 RGD:2149 104640 ligandId:4864 HGNC:651 "ENST00000395748.8|NM_001657.4" +HGNC:20363 AREL1 apoptosis resistant E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FIEL1 fibrosis-inducing E3 ligase 1 KIAA0317 KIAA0317 HECT domain containing 1959 2003-11-21 2013-04-15 2013-04-15 2016-10-05 9870 ENSG00000119682 OTTHUMG00000154499 uc001xqb.4 AB002315 NM_014821 CCDS41971 O15033 "9205841|23479728|27162139" MGI:1915747 RGD:1307597 615380 HGNC:20363 "ENST00000356357.9|NM_001039479.2" +HGNC:652 ARF1 ADP ribosylation factor 1 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "ARF GTPase family|Receptor ligands|MicroRNA protein coding host genes" "357|542|1691" 1992-07-09 2015-11-19 2021-11-25 375 ENSG00000143761 OTTHUMG00000037595 uc001hrs.3 M84326 NM_001024227 CCDS1565 P84077 1577740 MGI:99431 RGD:621270 103180 ligandId:5305 HGNC:652 "ENST00000272102.10|NM_001658.4" HGNC:652 +HGNC:22500 ARF1P1 ADP ribosylation factor 1 pseudogene 1 pseudogene pseudogene Approved 7q21.3 07q21.3 2005-11-07 2015-11-19 2015-11-19 442334 ENSG00000219807 OTTHUMG00000155563 XM_498225 PGOHUM00000302854 HGNC:22500 +HGNC:39883 ARF1P2 ADP ribosylation factor 1 pseudogene 2 pseudogene pseudogene Approved 12q24.31 12q24.31 2011-04-08 2015-11-19 2015-11-19 100420012 ENSG00000213137 OTTHUMG00000169223 NG_024047 PGOHUM00000291479 HGNC:39883 +HGNC:39884 ARF1P3 ADP ribosylation factor 1 pseudogene 3 pseudogene pseudogene Approved 8q24.13 08q24.13 2011-04-08 2015-11-19 2015-11-19 442396 ENSG00000253885 OTTHUMG00000165003 NG_022434 PGOHUM00000303675 HGNC:39884 +HGNC:44341 ARF2P ADP ribosylation factor 2, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 MGC57346 2017-02-01 2018-10-18 108489980 NG_051340 MGI:99595 HGNC:44341 +HGNC:654 ARF3 ADP ribosylation factor 3 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 small GTP binding protein ARF GTPase family 357 1992-07-09 2015-11-19 2020-09-17 377 ENSG00000134287 OTTHUMG00000168080 uc001rsr.3 M74491 NM_001659 CCDS8774 P61204 8661066 MGI:99432 RGD:621273 103190 HGNC:654 "ENST00000256682.9|NM_001659.3" +HGNC:655 ARF4 ADP ribosylation factor 4 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 ARF2 ADP-ribosylation factor 2 ARF GTPase family 357 1992-07-09 2015-11-19 2020-09-17 378 ENSG00000168374 OTTHUMG00000158601 uc003dix.5 M36341 NM_001660 CCDS2884 P18085 2107548 MGI:99433 RGD:621275 601177 HGNC:655 "ENST00000303436.11|NM_001660.4" +HGNC:51593 ARF4-AS1 ARF4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 Antisense RNAs 1987 2015-03-11 2019-05-31 106144532 ENSG00000272146 OTTHUMG00000185640 "BF793425|AI127075" NR_132369 ARF4-AS1 HGNC:51593 +HGNC:657 ARF4P1 ADP ribosylation factor 4 pseudogene 1 pseudogene pseudogene Approved 9q34.2 09q34.2 ARF4P ADP-ribosylation factor 4 pseudogene 1992-07-09 2009-11-25 2015-11-19 2015-11-19 380 ENSG00000271525 OTTHUMG00000184710 M31889 NG_001075 2107548 PGOHUM00000304471 HGNC:657 +HGNC:16599 ARF4P2 ADP ribosylation factor 4 pseudogene 2 pseudogene pseudogene Approved 20q13.33 20q13.33 dJ885L7.7 2001-09-17 2015-11-19 2015-11-19 170485 ENSG00000236527 OTTHUMG00000032934 AL035669 NG_001031 PGOHUM00000297033 HGNC:16599 +HGNC:32380 ARF4P3 ADP ribosylation factor 4 pseudogene 3 pseudogene pseudogene Approved 13q32.3 13q32.3 2005-11-07 2015-11-19 2015-11-19 390423 ENSG00000214051 OTTHUMG00000017292 XM_372496 PGOHUM00000292048 HGNC:32380 +HGNC:37628 ARF4P4 ADP ribosylation factor 4 pseudogene 4 pseudogene pseudogene Approved 13q31.1 13q31.1 2009-11-26 2015-11-19 2015-11-19 100129023 ENSG00000231222 OTTHUMG00000017143 NG_016164 PGOHUM00000248647 HGNC:37628 +HGNC:37629 ARF4P5 ADP ribosylation factor 4 pseudogene 5 pseudogene pseudogene Approved 1p31.1 01p31.1 2009-11-26 2015-11-19 2015-11-19 100316867 NG_016179 HGNC:37629 +HGNC:658 ARF5 ADP ribosylation factor 5 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 ARF GTPase family 357 1994-02-01 2015-11-19 2020-09-17 381 ENSG00000004059 OTTHUMG00000023246 uc003vmb.3 NM_001662 CCDS34745 P84085 1993656 MGI:99434 RGD:621278 103188 HGNC:658 "ENST00000000233.10|NM_001662.4" +HGNC:659 ARF6 ADP ribosylation factor 6 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 ARF GTPase family 357 1994-02-01 2015-11-19 2020-09-17 382 ENSG00000165527 OTTHUMG00000140296 uc001wxg.5 NM_001663 CCDS9695 P62330 "1993656|10343114" MGI:99435 RGD:621279 600464 HGNC:659 "ENST00000298316.7|NM_001663.4" +HGNC:15852 ARFGAP1 ADP ribosylation factor GTPase activating protein 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ10767|bA261N11.3" ARF1GAP ADP-ribosylation factor 1 GTPase activating protein "ArfGAPs|MicroRNA protein coding host genes" "395|1691" 2001-06-21 2002-08-23 2015-11-19 2015-11-19 55738 ENSG00000101199 OTTHUMG00000032965 uc002yel.5 AK001629 NM_018209 "CCDS63328|CCDS13516|CCDS63326|CCDS63327|CCDS13515" Q8N6T3 11210549 MGI:2183559 RGD:708452 608377 HGNC:15852 "ENST00000370283.9|NM_018209.4" +HGNC:13504 ARFGAP2 ADP ribosylation factor GTPase activating protein 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "IRZ|Zfp289|FLJ14576" ZNF289 zinc finger protein 289, ID1 regulated ArfGAPs 395 2001-11-23 2008-01-09 2015-11-19 2016-10-05 84364 ENSG00000149182 OTTHUMG00000166773 uc001ndt.4 AK027482 NM_032389 "CCDS7926|CCDS73283" Q8N6H7 "11278321|14690497" MGI:1924288 RGD:1306177 606908 HGNC:13504 "ENST00000524782.6|NM_032389.6" +HGNC:661 ARFGAP3 ADP ribosylation factor GTPase activating protein 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 ArfGAPs 395 1999-11-19 2002-08-23 2015-11-19 2020-09-17 26286 ENSG00000242247 OTTHUMG00000150718 uc003bdd.3 AK002083 NM_014570 "CCDS46722|CCDS14042" Q9NP61 "10704287|11172815" MGI:1913501 RGD:1560066 612439 HGNC:661 "ENST00000263245.10|NM_014570.5" +HGNC:15772 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 8q13.2 08q13.2 "DKFZP434L057|BIG1|ARFGEP1|p200" Brefeldin A-inhibited guanine nucleotide-exchange protein 1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) "Armadillo like helical domain containing|ARFGEF family" "1492|1947" 2004-08-09 2015-11-19 2016-10-05 10565 ENSG00000066777 OTTHUMG00000164626 uc003xxo.2 AF084520 NM_006421 CCDS6199 Q9Y6D6 "10212200|8917509" MGI:2442988 RGD:1560793 604141 HGNC:15772 "ENST00000262215.8|NM_006421.5" HGNC:15772 +HGNC:55237 ARFGEF1-DT ARFGEF1 divergent transcript non-coding RNA RNA, long non-coding Approved 8q13.2 08q13.2 Divergent transcripts 1990 2020-09-16 2020-09-16 102724708 ENSG00000271966 NR_136223 +HGNC:15853 ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 BIG2 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) "A-kinase anchoring proteins|Armadillo like helical domain containing|ARFGEF family" "396|1492|1947" 2001-06-21 2015-11-19 2015-11-19 10564 ENSG00000124198 OTTHUMG00000032687 uc002xtx.5 AF084521 NM_006420 CCDS13411 Q9Y6D5 10212200 MGI:2139354 RGD:631430 605371 121412 HGNC:15853 "ENST00000371917.5|NM_006420.3" HGNC:15853 +HGNC:21213 ARFGEF3 ARFGEF family member 3 protein-coding gene gene with protein product Approved 6q23.3-q24.1 06q23.3-q24.1 "dJ171N11.1|BIG3|PPP1R33" protein phosphatase 1, regulatory subunit 33 "C6orf92|KIAA1244" "chromosome 6 open reading frame 92|KIAA1244" "Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing|ARFGEF family" "694|1492|1947" 2003-11-21 2015-01-26 2015-01-26 2018-02-13 57221 ENSG00000112379 OTTHUMG00000015670 AB033070 NM_020340 CCDS5189 Q5TH69 MGI:106387 RGD:1309903 617411 HGNC:21213 "ENST00000251691.5|NM_020340.5" +HGNC:21496 ARFIP1 ADP ribosylation factor interacting protein 1 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 HSU52521 arfaptin 1 AH domain containing 1921 2003-07-21 2015-11-19 2016-10-24 27236 ENSG00000164144 OTTHUMG00000161468 uc003inc.5 U52521 NM_014447 "CCDS3780|CCDS34080" P53367 "9038142|10413101" MGI:1277120 RGD:708401 605928 HGNC:21496 "ENST00000353617.7|NM_001025595.3" +HGNC:17160 ARFIP2 ADP ribosylation factor interacting protein 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 POR1 arfaptin 2 AH domain containing 1921 2003-07-21 2015-11-19 2016-10-05 23647 ENSG00000132254 OTTHUMG00000133406 uc001mdk.4 BC000392 NM_012402 "CCDS7765|CCDS55739|CCDS55740|CCDS73250" P53365 "8670882|9038142" MGI:1924182 RGD:1303204 601638 HGNC:17160 "ENST00000396777.8|NM_001376558.2" +HGNC:662 ARFRP1 ADP ribosylation factor related protein 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "ARP|Arp1|ARL18" ARF GTPase family 357 1999-06-02 2015-11-19 2020-09-17 10139 ENSG00000101246 OTTHUMG00000032993 uc032ppj.2 X91504 NM_001134758 "CCDS68172|CCDS46630|CCDS68173|CCDS13533" Q13795 8530503 MGI:1923938 RGD:621683 604699 HGNC:662 "ENST00000622789.5|NM_001267547.3" +HGNC:663 ARG1 arginase 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 arginase-1 arginase, liver 2001-06-22 2013-05-01 2021-11-12 383 ENSG00000118520 OTTHUMG00000015566 uc003qcp.3 NM_000045 "CCDS59038|CCDS5145" P05089 22959135 MGI:88070 RGD:2150 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARG1 608313 121415 objectId:1244 3.5.3.1 HGNC:663 "ENST00000368087.8|NM_000045.4" HGNC:663 +HGNC:664 ARG2 arginase 2 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 arginase, type II 1996-08-06 2013-05-01 2020-09-17 384 ENSG00000081181 OTTHUMG00000171807 uc001xjs.4 D86724 NM_001172 CCDS9785 P78540 "8954792|8898077" MGI:1330806 RGD:2151 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ARG2 107830 objectId:1245 HGNC:664 "ENST00000261783.4|NM_001172.4" +HGNC:30146 ARGFX arginine-fifty homeobox protein-coding gene gene with protein product Approved 3q13.33 03q13.33 PRD class homeoboxes and pseudogenes 521 2005-05-05 2015-12-14 503582 ENSG00000186103 OTTHUMG00000159395 uc062myc.1 NM_001012659 CCDS33834 A6NJG6 "17005330|20565723" 611164 8418 HGNC:30146 "ENST00000334384.5|NM_001012659.2" +HGNC:17252 ARGFXP1 arginine-fifty homeobox pseudogene 1 pseudogene pseudogene Approved 5q23.2 05q23.2 PRD class homeoboxes and pseudogenes 521 2005-05-05 2017-10-25 503583 ENSG00000240058 OTTHUMG00000159399 NG_004853 8353 PGOHUM00000301107 HGNC:17252 +HGNC:23977 ARGFXP2 arginine-fifty homeobox pseudogene 2 pseudogene pseudogene Approved 17q11.2 17q11.2 PRD class homeoboxes and pseudogenes 521 2005-05-05 2020-01-06 503640 ENSG00000265293 OTTHUMG00000179565 NR_002222 8354 PGOHUM00000294058 HGNC:23977 +HGNC:25482 ARGLU1 arginine and glutamate rich 1 protein-coding gene gene with protein product Approved 13q33.3 13q33.3 FLJ10154 2007-11-28 2007-11-28 2014-11-19 55082 ENSG00000134884 OTTHUMG00000017321 uc001vqk.5 BC071587 NM_018011 CCDS41906 Q9NWB6 21454576 MGI:2442985 RGD:1310061 614046 HGNC:25482 "ENST00000400198.8|NM_018011.4" +HGNC:673 ARHGAP1 Rho GTPase activating protein 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "RhoGAP|p50rhoGAP|CDC42GAP|Cdc42GAP" "Rho GTPase activating proteins|BCH domain containing " "721|1299" 1997-08-28 2020-09-17 392 ENSG00000175220 OTTHUMG00000166567 uc001ndd.5 BC018118 NM_004308 CCDS7922 Q07960 8288572 MGI:2445003 RGD:1306068 602732 HGNC:673 "ENST00000311956.9|NM_004308.5" +HGNC:674 ARHGAP4 Rho GTPase activating protein 4 protein-coding gene gene with protein product Approved Xq28 Xq28 "KIAA0131|C1|p115|RhoGAP4|SrGAP4" Rho-GAP hematopoietic protein C1 "F-BAR domain containing |AH/BAR family Rho GTPase activating proteins" "1288|1923" 1997-08-28 2020-09-17 393 ENSG00000089820 OTTHUMG00000024226 uc065byi.1 X78817 NM_001666 "CCDS14736|CCDS55540" P98171 8570618 MGI:2159577 RGD:628901 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARHGAP4 300023 HGNC:674 "ENST00000350060.10|NM_001666.5" HGNC:674 +HGNC:675 ARHGAP5 Rho GTPase activating protein 5 protein-coding gene gene with protein product Approved 14q12 14q12 "RhoGAP5|p190-B|p190BRhoGAP" GFI2 growth factor independent 2 Rho GTPase activating proteins 721 1997-08-28 2020-09-17 394 ENSG00000100852 OTTHUMG00000170589 uc001wrn.3 U17032 NM_001030055 "CCDS32062|CCDS45095" Q13017 8537347 MGI:1332637 RGD:1308507 602680 HGNC:675 "ENST00000345122.8|NM_001030055.2" +HGNC:20279 ARHGAP5-AS1 ARHGAP5 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 14q12 14q12 MGC15504 C14orf128 "chromosome 14 open reading frame 128|ARHGAP5 antisense RNA 1 (non-protein coding)|ARHGAP5 antisense RNA 1" Antisense RNAs 1987 2003-01-17 2011-11-29 2012-10-17 2012-10-17 84837 ENSG00000258655 OTTHUMG00000170588 uc010amk.4 BC007251 NR_027263 Q96IT6 ARHGAP5-AS1 HGNC:20279 +HGNC:676 ARHGAP6 Rho GTPase activating protein 6 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 rhoGAPX-1 "Rho GTPase activating proteins|MicroRNA protein coding host genes" "721|1691" 1998-02-16 2020-09-17 395 ENSG00000047648 OTTHUMG00000021134 uc004cup.2 AF012272 NM_013427 "CCDS14142|CCDS14140|CCDS14141" O43182 9417914 MGI:1196332 RGD:2323364 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARHGAP6 300118 HGNC:676 "ENST00000337414.9|NM_013427.3" +HGNC:677 ARHGAP8 Rho GTPase activating protein 8 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "FLJ20185|BPGAP1" "Rho GTPase activating proteins|BCH domain containing " "721|1299" 1999-10-29 2020-09-17 23779 ENSG00000241484 OTTHUMG00000030234 uc003bfk.4 AF177331 NM_017701 "CCDS56233|CCDS33664|CCDS14060" P85298 10591208 MGI:1920417 RGD:1303143 609405 HGNC:677 "ENST00000356099.11|NM_181335.3" +HGNC:14130 ARHGAP9 Rho GTPase activating protein 9 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "MGC1295|10C" "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2001-02-28 2014-11-19 64333 ENSG00000123329 OTTHUMG00000150147 uc001soc.3 AB051853 NM_032496 "CCDS8941|CCDS44928|CCDS44929" Q9BRR9 11396949 MGI:2143764 RGD:1305342 610576 HGNC:14130 "ENST00000393791.8|NM_032496.4" +HGNC:26099 ARHGAP10 Rho GTPase activating protein 10 protein-coding gene gene with protein product Approved 4q31.23 04q31.23 "FLJ20896|FLJ41791|GRAF2" "MicroRNA protein coding host genes|AH/BAR family Rho GTPase activating proteins" "1691|1923" 2004-05-17 2021-09-09 79658 ENSG00000071205 OTTHUMG00000161460 uc003ilf.4 BC047914 NM_024605 CCDS34075 A1A4S6 "8288572|11432776|15793564" MGI:1925764 RGD:1588859 609746 HGNC:26099 "ENST00000336498.8|NM_024605.4" +HGNC:15783 ARHGAP11A Rho GTPase activating protein 11A protein-coding gene gene with protein product Approved 15q13.3 15q13.3 KIAA0013 GAP (1-12) Rho GTPase activating proteins 721 2004-10-04 2015-08-26 9824 ENSG00000198826 OTTHUMG00000129289 uc001zgy.2 D87717 NM_014783 "CCDS10028|CCDS66730|CCDS58349" Q6P4F7 11829490 MGI:2444300 RGD:1309107 610589 HGNC:15783 "ENST00000361627.8|NM_014783.6" +HGNC:56188 ARHGAP11A-DT ARHGAP11A divergent transcript non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 2022-01-21 2022-01-21 101928042 ENSG00000262728 NR_135833 +HGNC:15782 ARHGAP11B Rho GTPase activating protein 11B protein-coding gene gene with protein product Approved 15q13.2 15q13.2 B'-T GAP (1-8) FAM7B1 family with sequence similarity 7, member B1 Rho GTPase activating proteins 721 2004-10-04 2019-08-20 89839 ENSG00000285077 OTTHUMG00000175656 uc001zet.2 BC105788 NM_001039841 CCDS32185 Q3KRB8 "11829490|25721503" MGI:2444300 616310 HGNC:15782 +HGNC:55586 ARHGAP11B-DT ARHGAP11B divergent transcript non-coding RNA RNA, long non-coding Approved 15q13.2 15q13.2 Divergent transcripts 1990 2021-04-26 2021-04-26 102725021 ENSG00000247728 NR_157593 +HGNC:16348 ARHGAP12 Rho GTPase activating protein 12 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "FLJ20737|FLJ10971|FLJ21785" "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2001-08-01 2015-08-24 94134 ENSG00000165322 OTTHUMG00000017911 uc001ivz.3 AY033594 NM_001270695 "CCDS59214|CCDS59216|CCDS73082|CCDS7170|CCDS59215" Q8IWW6 11854031 MGI:1922665 RGD:1310017 610577 HGNC:16348 "ENST00000344936.7|NM_018287.7" +HGNC:21030 ARHGAP15 Rho GTPase activating protein 15 protein-coding gene gene with protein product Approved 2q22.2-q22.3 02q22.2-q22.3 BM046 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2003-05-07 2018-02-13 55843 ENSG00000075884 OTTHUMG00000192163 uc002tvm.5 AY219338 NM_018460 CCDS2184 Q53QZ3 "12650940|11042152" MGI:1923367 RGD:1359304 610578 HGNC:21030 "ENST00000295095.11|NM_018460.4" +HGNC:40949 ARHGAP15-AS1 ARHGAP15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q22.3 02q22.3 Antisense RNAs 1987 2019-07-19 2019-07-19 105373654 ENSG00000231758 OTTHUMG00000153724 XR_007087250 HGNC:40949 +HGNC:19921 ARHGAP16P Rho GTPase activating protein 16 pseudogene pseudogene pseudogene Approved 14q21.2 14q21.2 ARHGAP15P Rho GTPase activating protein 15 pseudogene Rho GTPase activating proteins 721 2003-01-13 2003-05-07 2003-05-07 2019-07-30 319102 ENSG00000258894 OTTHUMG00000170709 NG_002492 PGOHUM00000248153 HGNC:19921 +HGNC:18239 ARHGAP17 Rho GTPase activating protein 17 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "RICH1|FLJ10308|NADRIN|FLJ13219|WBP15" "N-BAR domain containing|AH/BAR family Rho GTPase activating proteins" "1289|1923" 2004-04-22 2016-10-05 55114 ENSG00000140750 OTTHUMG00000177372 uc002dnb.5 AJ306731 NM_018054 "CCDS32409|CCDS32408" Q68EM7 "10967100|11431473" MGI:1917747 RGD:628767 608293 HGNC:18239 "ENST00000289968.11|NM_001006634.3" +HGNC:21035 ARHGAP18 Rho GTPase activating protein 18 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 "MacGAP|bA307O14.2" Rho GTPase activating proteins 721 2003-05-07 2016-10-05 93663 ENSG00000146376 OTTHUMG00000015547 uc003qbr.4 AB053293 NM_033515 CCDS34535 Q8N392 MGI:1921160 RGD:1305053 613351 HGNC:21035 "ENST00000368149.3|NM_033515.3" +HGNC:23724 ARHGAP19 Rho GTPase activating protein 19 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "FLJ00194|MGC14258" Rho GTPase activating proteins 721 2003-12-05 2016-10-05 84986 ENSG00000213390 OTTHUMG00000018845 uc001knb.4 AK074122 NM_032900 "CCDS73175|CCDS58092|CCDS7454" Q14CB8 MGI:1918335 RGD:1593044 611587 HGNC:23724 "ENST00000358531.9|NM_032900.6" +HGNC:48348 ARHGAP19-SLIT1 ARHGAP19-SLIT1 readthrough (NMD candidate) other readthrough Approved 10q24.1 10q24.1 2013-05-10 2013-05-10 100533184 ENSG00000269891 OTTHUMG00000184018 NR_037909 HGNC:48348 +HGNC:18357 ARHGAP20 Rho GTPase activating protein 20 protein-coding gene gene with protein product Approved 11q22.3-q23.1 11q22.3-q23.1 KIAA1391 Rho GTPase activating proteins 721 2003-12-05 2018-02-13 57569 ENSG00000137727 OTTHUMG00000166590 uc001pkz.3 AB037812 NM_020809 "CCDS58176|CCDS31673|CCDS58175|CCDS58177" Q9P2F6 14532992 MGI:2445175 RGD:1303160 609568 HGNC:18357 "ENST00000683387.1|NM_001384657.1" +HGNC:23725 ARHGAP21 Rho GTPase activating protein 21 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "KIAA1424|ARHGAP10" "Pleckstrin homology domain containing|Rho GTPase activating proteins|PDZ domain containing" "682|721|1220" 2003-12-04 2016-10-05 57584 ENSG00000107863 OTTHUMG00000017825 uc001isb.2 AF480466 NM_020824 CCDS7144 Q5T5U3 12056806 MGI:1918685 RGD:1311028 609870 HGNC:23725 "ENST00000396432.7|NM_020824.4" +HGNC:30320 ARHGAP22 Rho GTPase activating protein 22 protein-coding gene gene with protein product Approved 10q11.22-q11.23 10q11.22-q11.23 RhoGAP2 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2004-01-29 2018-02-13 58504 ENSG00000128805 OTTHUMG00000018176 uc001jgt.5 AY324801 NM_021226 "CCDS7227|CCDS58080|CCDS58079|CCDS58081" Q7Z5H3 8619474 MGI:2443418 RGD:1307237 610585 HGNC:30320 "ENST00000249601.9|NM_021226.4" +HGNC:42944 ARHGAP22-IT1 ARHGAP22 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 10q11.22 10q11.22 FLJ35752 ARHGAP22 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-09-07 2015-02-25 2015-02-25 100689073 ENSG00000248682 OTTHUMG00000159998 uc057tdj.1 AK093071 NR_146782 ARHGAP22-IT1 HGNC:42944 +HGNC:29293 ARHGAP23 Rho GTPase activating protein 23 protein-coding gene gene with protein product Approved 17q12 17q12 KIAA1501 "Pleckstrin homology domain containing|Rho GTPase activating proteins|PDZ domain containing" "682|721|1220" 2004-04-06 2016-10-18 57636 ENSG00000275832 OTTHUMG00000188547 uc284ovh.1 AB040934 NM_001199417 CCDS56027 Q9P227 "10819331|15254754" MGI:3697726 RGD:1309742 610590 HGNC:29293 "ENST00000622683.5|NM_001199417.2" +HGNC:45039 ARHGAP23P1 Rho GTPase activating protein 23 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 2013-01-20 2013-01-23 102577425 ENSG00000260781 OTTHUMG00000176364 NG_033847 PGOHUM00000259060 HGNC:45039 +HGNC:25361 ARHGAP24 Rho GTPase activating protein 24 protein-coding gene gene with protein product Approved 4q21.23-q21.3 04q21.23-q21.3 "DKFZP564B1162|FLJ33877|FilGAP" "Pleckstrin homology domain containing|Rho GTPase activating proteins|MicroRNA protein coding host genes" "682|721|1691" 2004-04-06 2018-02-13 83478 ENSG00000138639 OTTHUMG00000130427 uc003hpk.4 AK091196 NM_031305 "CCDS3611|CCDS34025|CCDS43246" Q8N264 "11230166|15254788" MGI:1922647 RGD:1306669 610586 285362 HGNC:25361 "ENST00000395184.6|NM_001025616.3" HGNC:25361 +HGNC:28951 ARHGAP25 Rho GTPase activating protein 25 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 KIAA0053 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2004-04-06 2016-04-25 9938 ENSG00000163219 OTTHUMG00000152621 uc010fdg.4 D29642 NM_014882 "CCDS33214|CCDS46312|CCDS54363|CCDS54364" P42331 7584044 MGI:2443687 RGD:1562105 610587 HGNC:28951 "ENST00000409202.8|NM_001007231.3" +HGNC:17073 ARHGAP26 Rho GTPase activating protein 26 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "GRAF|KIAA0621|OPHN1L|OPHN1L1" GTPase regulator associated with the focal adhesion kinase pp125 AH/BAR family Rho GTPase activating proteins 1923 2004-05-19 2021-04-13 23092 ENSG00000145819 OTTHUMG00000059705 uc011dbj.3 AB014521 NM_015071 "CCDS87332|CCDS4277|CCDS47297" Q9UNA1 "9858476|8649427" MGI:1918552 RGD:1310923 LRG_1127|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1127.xml ARHGAP26 605370 HGNC:17073 "ENST00000645722.2|NM_001135608.3" HGNC:17073 +HGNC:40792 ARHGAP26-AS1 ARHGAP26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 ARHGAP26 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100874239 ENSG00000226272 OTTHUMG00000059702 uc003lmv.4 NR_046680 ARHGAP26-AS1 HGNC:40792 +HGNC:41429 ARHGAP26-IT1 ARHGAP26 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 ARHGAP26 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874372 ENSG00000230789 OTTHUMG00000067192 uc063ifw.1 NR_046816 ARHGAP26-IT1 HGNC:41429 +HGNC:31813 ARHGAP27 Rho GTPase activating protein 27 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CAMGAP1|FLJ43547|SH3P20" SH3D20 SH3 domain containing 20 "Pleckstrin homology domain containing|Rho GTPase activating proteins" "682|721" 2004-09-02 2016-12-14 201176 ENSG00000159314 OTTHUMG00000166982 uc032fka.1 AK125535 NM_199282 "CCDS74082|CCDS32670|CCDS11498" Q6ZUM4 15147912 MGI:1916903 RGD:735202 610591 HGNC:31813 "ENST00000685559.1|NM_001282290.2" +HGNC:28630 ARHGAP27P1 Rho GTPase activating protein 27 pseudogene 1 pseudogene pseudogene Approved 17q24.1 17q24.1 loc146880 2016-12-14 2017-10-30 146880 OTTHUMG00000179291 NR_027487 27836757 HGNC:28630 +HGNC:52873 ARHGAP27P1-BPTFP1-KPNA2P3 ARHGAP27P1-BPTFP1-KPNA2P3 readthrough, transcribed pseudogene other readthrough Approved 17q24.1 17q24.1 2016-12-14 2017-07-14 109286553 ENSG00000215769 NR_026899 HGNC:52873 +HGNC:53771 ARHGAP27P2 Rho GTPase activating protein 27 pseudogene 2 pseudogene pseudogene Approved 17q24.2 17q24.2 2017-10-30 2017-10-30 440461 ENSG00000267472 OTTHUMG00000180174 NR_027283 PGOHUM00000294539 HGNC:53771 +HGNC:25509 ARHGAP28 Rho GTPase activating protein 28 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "KIAA1314|FLJ10312" Rho GTPase activating proteins 721 2005-01-18 2016-11-11 79822 ENSG00000088756 OTTHUMG00000167698 uc002kne.4 BC033668 NM_001010000 CCDS32785 Q9P2N2 10718198 MGI:2147003 RGD:1559882 610592 HGNC:25509 "ENST00000383472.9|NM_001366230.1" +HGNC:55320 ARHGAP28-AS1 ARHGAP28 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Antisense RNAs 1987 2020-10-21 2020-10-21 101927168 ENSG00000266441 NR_134645 +HGNC:30207 ARHGAP29 Rho GTPase activating protein 29 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 PARG1 AH/BAR family Rho GTPase activating proteins 1923 2005-04-28 2021-05-26 9411 ENSG00000137962 OTTHUMG00000010643 uc001dqj.5 NM_004815 CCDS748 Q52LW3 9305890 MGI:2443818 RGD:1306185 610496 HGNC:30207 "ENST00000260526.11|NM_004815.4" HGNC:30207 +HGNC:54311 ARHGAP29-AS1 ARHGAP29 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.1-p21.3 01p22.1-p21.3 Antisense RNAs 1987 2019-05-03 2019-05-03 107985092 ENSG00000226835 XR_001738151 HGNC:54311 +HGNC:27414 ARHGAP30 Rho GTPase activating protein 30 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 FLJ00267 Rho GTPase activating proteins 721 2005-06-16 2014-11-19 257106 ENSG00000186517 OTTHUMG00000031477 uc001fxl.4 AL832852 NM_181720 "CCDS72958|CCDS30918|CCDS1215" Q7Z6I6 MGI:2684948 RGD:1561419 614264 HGNC:27414 "ENST00000368013.8|NM_001025598.2" +HGNC:29216 ARHGAP31 Rho GTPase activating protein 31 protein-coding gene gene with protein product Approved 3q13.32-q13.33 03q13.32-q13.33 CDGAP Rho GTPase activating proteins 721 2010-02-19 2018-02-13 57514 ENSG00000031081 OTTHUMG00000159362 uc003ecj.5 NM_020754 CCDS43135 Q2M1Z3 "9786927|12819203|16519628" MGI:1333857 RGD:1306093 610911 267088 HGNC:29216 "ENST00000264245.9|NM_020754.4" HGNC:29216 +HGNC:41235 ARHGAP31-AS1 ARHGAP31 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.33 03q13.33 ARHGAP31 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874246 ENSG00000241155 OTTHUMG00000159360 uc062mtq.1 NR_046748 ARHGAP31-AS1 HGNC:41235 +HGNC:17399 ARHGAP32 Rho GTPase activating protein 32 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "GRIT|KIAA0712|MGC1892|RICS|GC-GAP" Rho GTPase activating proteins 721 2010-02-19 2015-09-11 9743 ENSG00000134909 OTTHUMG00000165774 uc009zcp.3 AB018255 NM_014715 "CCDS44769|CCDS31718" A7KAX9 "12446789|12819203|17663722" MGI:2450166 RGD:1305267 608541 HGNC:17399 "ENST00000682385.1|NM_001378024.1" +HGNC:23085 ARHGAP33 Rho GTPase activating protein 33 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ39019|TCGAP" SNX26 sorting nexin 26 Rho GTPase activating proteins 721 2003-09-05 2010-02-19 2010-02-19 2016-10-05 115703 ENSG00000004777 OTTHUMG00000182071 uc002obs.3 AY044864 NM_052948 "CCDS54254|CCDS12477" O14559 "12297274|12461558" MGI:2673998 RGD:2318374 614902 HGNC:23085 "ENST00000007510.9|NM_001366178.1" HGNC:23085 +HGNC:4591 ARHGAP35 Rho GTPase activating protein 35 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "GRF-1|p190ARhoGAP|P190A|KIAA1722|p190RhoGAP" GRLF1 glucocorticoid receptor DNA binding factor 1 Rho GTPase activating proteins 721 1993-12-15 2011-06-07 2011-06-07 2018-05-17 2909 ENSG00000160007 OTTHUMG00000183438 uc010ekv.4 M73077 NM_004491 CCDS46127 Q9NRY4 "1894621|20675588" MGI:1929494 RGD:1308738 ARHGAP35 605277 HGNC:4591 "ENST00000672722.1|NM_004491.5" +HGNC:26388 ARHGAP36 Rho GTPase activating protein 36 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 FLJ30058 Rho GTPase activating proteins 721 2010-03-01 2015-08-24 158763 ENSG00000147256 OTTHUMG00000022402 uc004evz.5 NM_144967 "CCDS65320|CCDS83489|CCDS14628" Q6ZRI8 MGI:1922654 RGD:1565967 300937 HGNC:26388 "ENST00000276211.10|NM_144967.4" +HGNC:29351 ARHGAP39 Rho GTPase activating protein 39 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KIAA1688|Vilse|CrGAP" "RhoGAP93B homolog (Drosophila)|crossGAP homolog (Drosophila)" Rho GTPase activating proteins 721 2010-04-14 2015-08-24 80728 ENSG00000147799 OTTHUMG00000165182 uc064rpe.1 NM_001308207 "CCDS34971|CCDS78374" Q9C0H5 15755809 MGI:107858 RGD:1593158 615880 HGNC:29351 "ENST00000377307.7|NM_025251.3" +HGNC:16226 ARHGAP40 Rho GTPase activating protein 40 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ1100H13.4 C20orf95 chromosome 20 open reading frame 95 Rho GTPase activating proteins 721 2001-07-17 2010-04-14 2010-04-14 2016-10-18 343578 ENSG00000124143 OTTHUMG00000032453 uc061wyy.1 AL035419 NM_001164431 Q5TG30 MGI:3649852 RGD:1562428 HGNC:16226 +HGNC:26545 ARHGAP42 Rho GTPase activating protein 42 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "FLJ32810|GRAF3|AD031" TMEM133 transmembrane protein 133 AH/BAR family Rho GTPase activating proteins 1923 2010-04-28 2017-11-20 143872 ENSG00000165895 OTTHUMG00000167530 uc001pge.2 NM_152432 A6NI28 18954304 MGI:1918794 RGD:1564081 615936 HGNC:26545 "ENST00000298815.13|NM_152432.4" +HGNC:54801 ARHGAP42-AS1 ARHGAP42 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q22.1 11q22.1 AK124326 Antisense RNAs 1987 2020-01-10 2020-01-21 100128386 ENSG00000248027 NR_133571 31886719 +HGNC:43940 ARHGAP42P1 ARHGAP42 pseudogene 1 pseudogene pseudogene Approved 2q21.1 02q21.1 Rho GTPase activating protein 42 pseudogene 1 2012-05-11 2020-01-10 2020-01-10 100887075 ENSG00000227817 OTTHUMG00000153560 NG_032717 PGOHUM00000240311 HGNC:43940 +HGNC:43939 ARHGAP42P2 ARHGAP42 pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 Rho GTPase activating protein 42 pseudogene 2 2012-05-11 2020-01-10 2020-01-10 100130693 ENSG00000231147 OTTHUMG00000153532 PGOHUM00000240906 HGNC:43939 +HGNC:19327 ARHGAP42P3 ARHGAP42 pseudogene 3 pseudogene pseudogene Approved 22q11.1 22q11.1 OPHN1P1 "oligophrenin 1 pseudogene 1|Rho GTPase activating protein 42 pseudogene 3" 2002-10-03 2012-05-11 2020-01-10 2020-01-10 266698 ENSG00000235759 OTTHUMG00000140358 NG_002375 PGOHUM00000246371 HGNC:19327 +HGNC:43941 ARHGAP42P4 ARHGAP42 pseudogene 4 pseudogene pseudogene Approved 14q11.2 14q11.2 Rho GTPase activating protein 42 pseudogene 4 2012-05-11 2020-01-10 2020-01-10 254398 ENSG00000258080 OTTHUMG00000170557 NG_028869 PGOHUM00000248032 HGNC:43941 +HGNC:43942 ARHGAP42P5 ARHGAP42 pseudogene 5 pseudogene pseudogene Approved 14q11.2 14q11.2 Rho GTPase activating protein 42 pseudogene 5 2012-05-11 2020-01-10 2020-01-10 100128514 ENSG00000258233 OTTHUMG00000170299 NG_028186 PGOHUM00000247695 HGNC:43942 +HGNC:29096 ARHGAP44 Rho GTPase activating protein 44 protein-coding gene gene with protein product Approved 17p12 17p12 "KIAA0672|RICH-2|RICH2" "N-BAR domain containing|AH/BAR family Rho GTPase activating proteins" "1289|1923" 2010-08-19 2015-08-26 9912 ENSG00000006740 OTTHUMG00000058765 uc002gnr.5 NM_014859 "CCDS82076|CCDS82077|CCDS45616" Q17R89 19273615 MGI:2144423 RGD:1305664 617716 HGNC:29096 "ENST00000379672.10|NM_014859.6" +HGNC:55326 ARHGAP44-AS1 ARHGAP44 and MYOCD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p12 17p12 Antisense RNAs 1987 2020-10-21 2020-10-21 100128006 ENSG00000265489 NR_104607 +HGNC:17102 ARHGAP45 Rho GTPase activating protein 45 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA0223|HA-1" HMHA1 histocompatibility (minor) HA-1 "Minor histocompatibility antigens|F-BAR domain containing |AH/BAR family Rho GTPase activating proteins" "870|1288|1923" 2005-12-06 2016-06-06 2016-06-06 2020-01-21 23526 ENSG00000180448 uc002lqz.4 D86976 NM_001258328 "CCDS82263|CCDS74242|CCDS32863|CCDS58637|CCDS74243" Q92619 "9820596|9039502" MGI:1917969 RGD:1308662 601155 HGNC:17102 "ENST00000313093.7|NM_012292.5" +HGNC:678 ARHGDIA Rho GDP dissociation inhibitor alpha protein-coding gene gene with protein product Approved 17q25.3 17q25.3 RHOGDI GDIA1 Rho GDP dissociation inhibitor (GDI) alpha 1996-04-30 2016-04-01 2020-09-17 396 ENSG00000141522 OTTHUMG00000178352 uc002kbq.3 BC028333 NM_004309 "CCDS11788|CCDS77133|CCDS58609" P52565 9186513 MGI:2178103 RGD:1359547 601925 356106 HGNC:678 "ENST00000269321.12|NM_004309.6" HGNC:678 +HGNC:679 ARHGDIB Rho GDP dissociation inhibitor beta protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "Ly-GDI|RhoGDI2" "RAP1GN1|GDIA2|GDID4" Rho GDP dissociation inhibitor (GDI) beta "Receptor ligands|Minor histocompatibility antigens" "542|870" 1994-08-29 2016-04-01 2020-09-17 397 ENSG00000111348 OTTHUMG00000168742 uc001rcq.2 L07916 NM_001175 CCDS8671 P52566 "8434008|8356058" MGI:101940 RGD:1305383 602843 ligandId:5174 HGNC:679 "ENST00000228945.9|NM_001175.7" +HGNC:680 ARHGDIG Rho GDP dissociation inhibitor gamma protein-coding gene gene with protein product Approved 16p13.3 16p13.3 RHOGDI-3 RhoGDI gamma Rho GDP dissociation inhibitor (GDI) gamma 1997-07-11 2016-04-01 2020-09-17 398 ENSG00000242173 OTTHUMG00000064892 uc002cgm.2 U82532 NM_001176 CCDS10404 Q99819 "9113980|11967128" MGI:108430 RGD:1310739 602844 HGNC:680 "ENST00000219409.8|NM_001176.4" +HGNC:681 ARHGEF1 Rho guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "P115-RHOGEF|SUB1.5|LBCL2" Rho guanine nucleotide exchange factor (GEF) 1 Dbl family Rho GEFs 722 2000-03-10 2015-11-09 2020-09-17 9138 ENSG00000076928 OTTHUMG00000182679 uc002osa.4 U64105 NM_199002 "CCDS12590|CCDS12591|CCDS12592" Q92888 "8810315|9135076" MGI:1353510 RGD:620951 601855 HGNC:681 "ENST00000354532.8|NM_004706.4" HGNC:681 +HGNC:682 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 1q22 01q22 "LFP40|GEF-H1|KIAA0651|P40|Lfc|GEFH1" "rho/rac guanine nucleotide exchange factor (GEF) 2|Rho/Rac guanine nucleotide exchange factor (GEF) 2" "Pleckstrin homology domain containing|Dbl family Rho GEFs|MicroRNA protein coding host genes" "682|722|1691" 2000-06-09 2015-11-09 2020-09-17 9181 ENSG00000116584 OTTHUMG00000017464 uc001fmr.3 AB014551 NM_004723 "CCDS53376|CCDS1125|CCDS53375" Q92974 "9857026|9734811" MGI:103264 RGD:1304659 607560 HGNC:682 "ENST00000361247.9|NM_001162383.2" +HGNC:40082 ARHGEF2-AS1 ARHGEF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q22 01q22 Antisense RNAs 1987 2019-07-19 2019-07-19 107985210 ENSG00000224276 OTTHUMG00000017459 XR_001738248 HGNC:40082 +HGNC:55175 ARHGEF2-AS2 ARHGEF2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q22 01q22 Antisense RNAs 1987 2020-08-06 2020-08-06 107985209 ENSG00000273002 XR_001738246 +HGNC:683 ARHGEF3 Rho guanine nucleotide exchange factor 3 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "STA3|XPLN|GEF3|DKFZP434F2429" "exchange factor found in platelets and leukemic and neuronal tissues, XPLN|RhoGEF protein" Rho guanine nucleotide exchange factor (GEF) 3 Dbl family Rho GEFs 722 2000-04-11 2015-11-09 2020-09-17 50650 ENSG00000163947 OTTHUMG00000158857 uc003dig.2 AB209661 NM_019555 "CCDS46855|CCDS74948|CCDS46854|CCDS2878" Q9NR81 10873612 MGI:1918954 RGD:1310672 612115 HGNC:683 "ENST00000296315.8|NM_019555.3" +HGNC:40083 ARHGEF3-AS1 ARHGEF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 ARHGEF3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874200 ENSG00000240198 OTTHUMG00000158863 uc031sae.2 NR_046572 ARHGEF3-AS1 HGNC:40083 +HGNC:684 ARHGEF4 Rho guanine nucleotide exchange factor 4 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "STM6|KIAA1112|ASEF|ASEF1" "APC-stimulated guanine nucleotide exchange factor|APC-stimulated guanine nucleotide exchange factor 1" Rho guanine nucleotide exchange factor (GEF) 4 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2000-04-11 2015-11-09 2020-11-11 50649 ENSG00000136002 OTTHUMG00000191895 uc002tsa.2 AL137289 NM_001367493 CCDS2165 Q9NR80 10873612 MGI:2442507 RGD:1586179 605216 HGNC:684 "ENST00000409359.7|NM_001367493.1" +HGNC:55716 ARHGEF4-AS1 ARHGEF4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 Antisense RNAs 1987 2021-07-12 2021-07-12 121853076 ENSG00000233221 +HGNC:13209 ARHGEF5 Rho guanine nucleotide exchange factor 5 protein-coding gene gene with protein product Approved 7q35 07q35 "TIM|TIM1|GEF5|P60" "transforming immortalized mammary oncogene|guanine nucleotide regulatory protein TIM|ephexin3" Rho guanine nucleotide exchange factor (GEF) 5 Dbl family Rho GEFs 722 2001-02-15 2015-11-09 2018-05-15 7984 ENSG00000050327 OTTHUMG00000158004 uc003wel.4 U02082 NM_005435 CCDS34771 Q12774 "8134109|7656213" MGI:1858952 RGD:620718 600888 HGNC:13209 "ENST00000056217.10|NM_005435.4" +HGNC:685 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "alphaPIX|Cool-2|KIAA0006|alpha-PIX|Cool2|αPix" "Rac/Cdc42 guanine exchange factor (GEF) 6|PAK-interacting exchange factor, alpha|rho guanine nucleotide exchange factor 6" MRX46 "mental retardation, X-linked 46|Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2000-07-27 2015-11-09 2021-05-26 9459 ENSG00000129675 OTTHUMG00000022518 uc004fab.5 D13631 NM_004840 "CCDS78509|CCDS14660" Q15052 "7584048|9659915" MGI:1920591 RGD:1359674 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARHGEF6 300267 168322 HGNC:685 "ENST00000250617.7|NM_004840.3" HGNC:685 +HGNC:15607 ARHGEF7 Rho guanine nucleotide exchange factor 7 protein-coding gene gene with protein product Approved 13q34 13q34 "KIAA0142|PIXB|DKFZp761K1021|Nbla10314|DKFZp686C12170|BETA-PIX|COOL1|P85SPR|P85|P85COOL1|P50BP|PAK3|P50" "SH3 domain-containing proline-rich protein|PAK-interacting exchange factor beta" Rho guanine nucleotide exchange factor (GEF) 7 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-11-21 2015-11-09 2016-10-05 8874 ENSG00000102606 OTTHUMG00000017357 uc001vrr.3 D63476 NM_001113511 "CCDS86362|CCDS32009|CCDS45069|CCDS86360|CCDS81781|CCDS9521|CCDS86361|CCDS45068" Q14155 "9207241|9726964" MGI:1860493 RGD:620624 605477 HGNC:15607 "ENST00000646102.2|NM_001354046.2" +HGNC:39816 ARHGEF7-AS1 ARHGEF7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 ARHGEF7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2014-11-19 100874226 ENSG00000227352 OTTHUMG00000017355 uc058yie.1 NR_046516 ARHGEF7-AS1 HGNC:39816 +HGNC:40717 ARHGEF7-AS2 ARHGEF7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q34 13q34 ARHGEF7 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2021-06-30 100874238 ENSG00000235875 OTTHUMG00000017353 uc058yhz.1 NR_046667 ARHGEF7-AS2 HGNC:40717 +HGNC:41408 ARHGEF7-IT1 ARHGEF7 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 ARHGEF7 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-04 2015-02-25 2015-02-25 100874371 ENSG00000233644 OTTHUMG00000017354 uc058yid.1 ARHGEF7-IT1 +HGNC:14561 ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 protein-coding gene gene with protein product Approved Xq11.1 Xq11.1 "KIAA0424|PEM-2" collybistin Cdc42 guanine nucleotide exchange factor (GEF) 9 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-02-06 2015-11-09 2021-05-26 23229 ENSG00000131089 OTTHUMG00000021700 uc064zpi.1 AB007884 NM_001173479 "CCDS83477|CCDS55429|CCDS87753|CCDS35315|CCDS55430" O43307 "10559246|9455477" MGI:2442233 RGD:620719 300429 166055 HGNC:14561 "ENST00000671741.2|NM_001353921.2" HGNC:14561 +HGNC:41401 ARHGEF9-IT1 ARHGEF9 intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xq11.1 Xq11.1 ARHGEF9 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874355 ENSG00000231729 OTTHUMG00000021698 uc033egi.1 NR_138419 ARHGEF9-IT1 HGNC:41401 +HGNC:14103 ARHGEF10 Rho guanine nucleotide exchange factor 10 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 "KIAA0294|Gef10" Rho guanine nucleotide exchange factor (GEF) 10 Dbl family Rho GEFs 722 2000-12-01 2015-11-09 2021-04-13 9639 ENSG00000104728 OTTHUMG00000163626 uc003wpr.4 AF009205 NM_001308152 "CCDS34794|CCDS78297|CCDS78296" O15013 "9205841|16896804" MGI:2444453 RGD:1565043 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_234|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_234.xml" 608136 320561 HGNC:14103 "ENST00000349830.8|NM_014629.4" HGNC:14103 +HGNC:25540 ARHGEF10L Rho guanine nucleotide exchange factor 10 like protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "FLJ10521|KIAA1626" GrinchGEF Rho guanine nucleotide exchange factor (GEF) 10-like Dbl family Rho GEFs 722 2005-06-23 2015-11-09 2015-11-09 55160 ENSG00000074964 OTTHUMG00000002514 uc001ban.4 AB046846 NM_018125 "CCDS182|CCDS30617" Q9HCE6 "10997877|16112081" MGI:1920004 RGD:1585585 612494 HGNC:25540 "ENST00000361221.8|NM_018125.4" +HGNC:14580 ARHGEF11 Rho guanine nucleotide exchange factor 11 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "KIAA0380|GTRAP48|PDZ-RHOGEF" Rho guanine nucleotide exchange factor (GEF) 11 "Dbl family Rho GEFs|PDZ domain containing|MicroRNA protein coding host genes" "722|1220|1691" 2001-02-08 2015-11-09 2016-10-05 9826 ENSG00000132694 OTTHUMG00000041292 uc001fqn.3 AB002378 NM_198236 "CCDS1162|CCDS1163" O15085 "10526156|9205841" MGI:2441869 RGD:619705 605708 HGNC:14580 "ENST00000368194.8|NM_198236.3" +HGNC:14193 ARHGEF12 Rho guanine nucleotide exchange factor 12 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "KIAA0382|LARG" Rho guanine nucleotide exchange factor (GEF) 12 "Dbl family Rho GEFs|PDZ domain containing" "722|1220" 2000-12-07 2015-11-09 2015-11-09 23365 ENSG00000196914 OTTHUMG00000166143 uc001pxl.3 AF180681 NM_015313 "CCDS41727|CCDS55794|CCDS76487" Q9NZN5 "10681437|9205841" MGI:1916882 RGD:1305111 ARHGEF12 604763 HGNC:14193 "ENST00000397843.7|NM_015313.3" +HGNC:15590 ARHGEF15 Rho guanine nucleotide exchange factor 15 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "KIAA0915|Vsm-RhoGEF|ARGEF15|FLJ13791|MGC44868" "Rho guanine exchange factor (GEF) 15|ephexin5" Rho guanine nucleotide exchange factor (GEF) 15 Dbl family Rho GEFs 722 2001-04-26 2015-11-09 2018-05-15 22899 ENSG00000198844 OTTHUMG00000108187 uc002glc.4 AB020722 NM_173728 CCDS11139 O94989 10048485 MGI:3045246 RGD:1306961 608504 469960 HGNC:15590 "ENST00000361926.8|NM_173728.4" HGNC:15590 +HGNC:15515 ARHGEF16 Rho guanine nucleotide exchange factor 16 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "NBR|GEF16" "putative neuroblastoma protein|ephexin4" Rho guanine nucleotide exchange factor (GEF) 16 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-04-06 2015-11-09 2018-05-09 27237 ENSG00000130762 OTTHUMG00000000625 uc001akg.5 D89016 NM_014448 CCDS46 Q5VV41 MGI:2446219 RGD:1588981 618871 HGNC:15515 "ENST00000378378.9|NM_014448.4" +HGNC:21726 ARHGEF17 Rho guanine nucleotide exchange factor 17 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "TEM4|KIAA0337|p164-RhoGEF" "Rho-specific guanine-nucleotide exchange factor 164 kDa|tumor endothelial marker 4" Rho guanine nucleotide exchange factor (GEF) 17 Dbl family Rho GEFs 722 2003-09-25 2015-11-09 2016-10-05 9828 ENSG00000110237 OTTHUMG00000167971 uc001otu.4 AF378754 NM_014786 CCDS8221 Q96PE2 "11559528|12071859" MGI:2673002 RGD:1309890 617043 HGNC:21726 "ENST00000263674.4|NM_014786.4" +HGNC:55485 ARHGEF17-AS1 ARHGEF17 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2021-03-11 2021-03-11 100287837 ENSG00000257038 NR_147696 +HGNC:17090 ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "P114-RhoGEF|KIAA0521|MGC15913|p114RhoGEF" Rho-specific guanine nucleotide exchange factor p114 "rho/rac guanine nucleotide exchange factor (GEF) 18|Rho/Rac guanine nucleotide exchange factor (GEF) 18" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2004-01-09 2015-11-09 2021-05-26 23370 ENSG00000104880 OTTHUMG00000177342 uc002mgh.4 AK074372 NM_015318 CCDS12177 Q6ZSZ5 "9628581|11318610" MGI:2142567 RGD:1311448 616432 HGNC:17090 "ENST00000668164.2|NM_001367823.1" HGNC:17090 +HGNC:55284 ARHGEF18-AS1 ARHGEF18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 Antisense RNAs 1987 2020-10-14 2020-10-14 118827816 ENSG00000267852 +HGNC:26604 ARHGEF19 Rho guanine nucleotide exchange factor 19 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "FLJ33962|WGEF" ephexin2 Rho guanine nucleotide exchange factor (GEF) 19 Dbl family Rho GEFs 722 2004-03-05 2015-11-09 2018-05-15 128272 ENSG00000142632 OTTHUMG00000002219 uc001ayc.1 BC012982 NM_153213 CCDS170 Q8IW93 19503838 MGI:1925912 RGD:1304766 612496 HGNC:26604 "ENST00000270747.8|NM_153213.5" +HGNC:39996 ARHGEF19-AS1 ARHGEF19 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 ARHGEF19 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100874233 ENSG00000234166 OTTHUMG00000002220 uc057cqq.1 ARHGEF19-AS1 +HGNC:30275 ARHGEF25 Rho guanine nucleotide exchange factor 25 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "GEFT|p63RhoGEF" RAC/CDC42 exchange factor Rho guanine nucleotide exchange factor (GEF) 25 Dbl family Rho GEFs 722 2010-09-02 2015-11-09 2015-11-09 115557 ENSG00000240771 OTTHUMG00000152516 uc009zpy.5 NM_133483 "CCDS8947|CCDS44931" Q86VW2 12547822 MGI:1277173 RGD:735210 610215 HGNC:30275 "ENST00000286494.9|NM_182947.4" +HGNC:24490 ARHGEF26 Rho guanine nucleotide exchange factor 26 protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "DKFZP434D146|SGEF" Src homology 3 domain-containing guanine nucleotide exchange factor Rho guanine nucleotide exchange factor (GEF) 26 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2010-08-20 2015-11-09 2018-05-14 26084 ENSG00000114790 OTTHUMG00000159098 uc021xgc.1 BC016628 NM_015595 "CCDS58858|CCDS46938" Q96DR7 "15133129|12697679" MGI:1918053 RGD:1562559 617552 HGNC:24490 "ENST00000465093.6|NM_015595.4" +HGNC:41048 ARHGEF26-AS1 ARHGEF26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.2 03q25.2 ARHGEF26 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100507524 ENSG00000243069 OTTHUMG00000159647 uc003ezu.1 NR_037901 ARHGEF26-AS1 HGNC:41048 +HGNC:30322 ARHGEF28 Rho guanine nucleotide exchange factor 28 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "RGNEF|p190RhoGEF|RIP2" Rho guanine nucleotide exchange factor (GEF) 28 Dbl family Rho GEFs 722 2012-08-08 2015-11-09 2016-04-25 64283 ENSG00000214944 OTTHUMG00000162454 uc010izf.4 NM_001080479 "CCDS54870|CCDS47231|CCDS58957" Q8N1W1 "9199174|11058585" MGI:1346016 RGD:1307061 612790 HGNC:30322 "ENST00000513042.7|NM_001177693.2" HGNC:30322 +HGNC:37252 ARHGEF33 Rho guanine nucleotide exchange factor 33 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 Rho guanine nucleotide exchange factor (GEF) 33 Dbl family Rho GEFs 722 2010-04-13 2015-11-09 2016-04-25 100271715 ENSG00000214694 OTTHUMG00000153540 uc021vgd.2 NM_001145451 CCDS46263 A8MVX0 MGI:2685787 RGD:1560224 HGNC:37252 "ENST00000409978.7|NM_001145451.5" +HGNC:38086 ARHGEF34P Rho guanine nucleotide exchange factor 34, pseudogene pseudogene pseudogene Approved 7q35 07q35 Rho guanine nucleotide exchange factor (GEF) 34, pseudogene Dbl family Rho GEFs 722 2013-05-09 2015-11-09 2015-11-09 728377 ENSG00000204959 OTTHUMG00000158008 NR_033942 PGOHUM00000250918 HGNC:38086 +HGNC:33846 ARHGEF35 Rho guanine nucleotide exchange factor 35 protein-coding gene gene with protein product Approved 7q35 07q35 "FLJ43692|CTAGE4" ARHGEF5L "Rho guanine nucleotide exchange factor (GEF) 5-like|Rho guanine nucleotide exchange factor (GEF) 35" Dbl family Rho GEFs 722 2009-04-02 2010-04-13 2015-11-09 2015-11-09 445328 ENSG00000213214 OTTHUMG00000158010 uc003wdz.3 AK125680 NM_001003702 CCDS34770 A5YM69 HGNC:33846 "ENST00000378115.3|NM_001003702.3" +HGNC:41292 ARHGEF35-AS1 ARHGEF35 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q35 07q35 Antisense RNAs 1987 2019-07-19 2019-07-19 101928605 ENSG00000244198 OTTHUMG00000158007 NR_126022 HGNC:41292 +HGNC:34430 ARHGEF37 Rho guanine nucleotide exchange factor 37 protein-coding gene gene with protein product Approved 5q32 05q32 FLJ41603 Rho guanine nucleotide exchange factor (GEF) 37 "Dbl family Rho GEFs|BAR and Dbl domain containing" "722|1924" 2010-04-13 2015-11-09 2016-10-05 389337 ENSG00000183111 OTTHUMG00000163491 uc003lra.2 BC041325 NM_001001669 CCDS43385 A1IGU5 MGI:3045339 RGD:1560471 HGNC:34430 "ENST00000333677.7|NM_001001669.3" +HGNC:25968 ARHGEF38 Rho guanine nucleotide exchange factor 38 protein-coding gene gene with protein product Approved 4q24 04q24 FLJ20184 Rho guanine nucleotide exchange factor (GEF) 38 "Dbl family Rho GEFs|BAR and Dbl domain containing" "722|1924" 2010-04-13 2015-11-09 2015-11-09 54848 ENSG00000236699 OTTHUMG00000154752 uc003hxv.3 AK000191 NM_017700 "CCDS56338|CCDS3670" Q9NXL2 MGI:1924919 RGD:1311728 HGNC:25968 "ENST00000420470.3|NM_001242729.2" HGNC:25968 +HGNC:41483 ARHGEF38-IT1 ARHGEF38 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 ARHGEF38 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874374 ENSG00000249885 OTTHUMG00000161056 uc031sgs.2 NR_046840 ARHGEF38-IT1 HGNC:41483 +HGNC:25909 ARHGEF39 Rho guanine nucleotide exchange factor 39 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 FLJ14642 C9orf100 "chromosome 9 open reading frame 100|Rho guanine nucleotide exchange factor (GEF) 39" Dbl family Rho GEFs 722 2004-03-11 2012-08-08 2015-11-09 2015-11-09 84904 ENSG00000137135 OTTHUMG00000019869 uc003zxm.2 AK001187 NM_032818 CCDS6584 Q8N4T4 22327280 MGI:3036286 RGD:1310376 HGNC:25909 "ENST00000378387.4|NM_032818.3" +HGNC:25516 ARHGEF40 Rho guanine nucleotide exchange factor 40 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "solo|FLJ10357" Rho guanine nucleotide exchange factor (GEF) 40 Dbl family Rho GEFs 722 2010-09-01 2015-11-09 2015-11-09 55701 ENSG00000165801 OTTHUMG00000171359 uc001vzp.5 NM_001278529 CCDS32041 Q8TER5 16143467 MGI:2685515 RGD:1308093 610018 HGNC:25516 "ENST00000298694.9|NM_018071.5" +HGNC:11110 ARID1A AT-rich interaction domain 1A protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "B120|P270|C10rf4|BAF250|BAF250a" "C1orf4|SMARCF1" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1|AT rich interactive domain 1A (SWI- like)|AT rich interactive domain 1A (SWI-like)" "AT-rich interaction domain containing|Armadillo like helical domain containing|BAF complex" "418|1492|1604" 2000-06-26 2004-01-30 2015-11-17 2021-07-02 8289 ENSG00000117713 OTTHUMG00000004004 uc001bmv.2 AB001895 NM_139135 "CCDS44091|CCDS285" O14497 "9630625|9434167" MGI:1935147 RGD:1310500 LRG_875|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_875.xml ARID1A 603024 293103 HGNC:11110 "ENST00000324856.13|NM_006015.6" HGNC:11110 +HGNC:18040 ARID1B AT-rich interaction domain 1B protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "KIAA1235|ELD/OSA1|p250R|BAF250b|DAN15|6A3-5|SMARCF2" AT rich interactive domain 1B (SWI1-like) "AT-rich interaction domain containing|Armadillo like helical domain containing|BAF complex" "418|1492|1604" 2004-01-28 2015-11-17 2021-07-23 57492 ENSG00000049618 OTTHUMG00000015890 uc003qqp.4 AF521671 NM_020732 CCDS87460 Q8NFD5 MGI:1926129 RGD:708504 ARID1B 614556 293095 HGNC:18040 "ENST00000636930.2|NM_001374828.1" HGNC:18040 +HGNC:18037 ARID2 AT-rich interaction domain 2 protein-coding gene gene with protein product Approved 12q12 12q12 "KIAA1557|DKFZp686G052|FLJ30619|BAF200|SMARCF3" AT rich interactive domain 2 (ARID, RFX-like) "AT-rich interaction domain containing|Armadillo like helical domain containing|PBAF complex" "418|1492|1605" 2004-01-28 2015-11-17 2021-07-23 196528 ENSG00000189079 OTTHUMG00000150487 uc001ros.2 NM_152641 CCDS31783 Q68CP9 MGI:1924294 RGD:1311105 ARID2 609539 469962 HGNC:18037 "ENST00000334344.11|NM_152641.4" HGNC:18037 +HGNC:3031 ARID3A AT-rich interaction domain 3A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 BRIGHT DRIL1 "dead ringer-like 1 (Drosophila)|AT rich interactive domain 3A (BRIGHT- like)|AT rich interactive domain 3A (BRIGHT-like)" AT-rich interaction domain containing 418 1997-08-22 2004-01-30 2015-11-17 2019-08-21 1820 ENSG00000116017 OTTHUMG00000182018 uc002lql.4 U88047 NM_005224 CCDS12050 Q99856 9722953 MGI:1328360 RGD:1305299 603265 HGNC:3031 "ENST00000263620.8|NM_005224.3" +HGNC:14350 ARID3B AT-rich interaction domain 3B protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "BDP|DRIL2" "AT rich interactive domain 3B (BRIGHT- like)|AT rich interactive domain 3B (BRIGHT-like)" AT-rich interaction domain containing 418 2004-01-28 2015-11-17 2016-10-05 10620 ENSG00000179361 OTTHUMG00000141321 uc002ayd.4 NM_006465 "CCDS76777|CCDS10264" Q8IVW6 MGI:1930768 RGD:1306335 612457 HGNC:14350 "ENST00000346246.10|NM_006465.4" +HGNC:54553 ARID3BP1 ARID3B pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 2019-10-14 2020-01-21 646555 ENSG00000227288 NG_005808 +HGNC:21209 ARID3C AT-rich interaction domain 3C protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "AT rich interactive domain 3C (BRIGHT- like)|AT rich interactive domain 3C (BRIGHT-like)" AT-rich interaction domain containing 418 2004-01-28 2015-11-17 2016-10-18 138715 ENSG00000205143 OTTHUMG00000000445 uc011lon.3 NM_001017363 CCDS35006 A6NKF2 MGI:3650624 RGD:1560943 HGNC:21209 +HGNC:9885 ARID4A AT-rich interaction domain 4A protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "RBP1|RBP-1" RBBP1 "retinoblastoma-binding protein 1|AT rich interactive domain 4A (RBP1-like)" AT-rich interaction domain containing 418 1992-09-17 2004-01-28 2015-11-17 2016-10-05 5926 ENSG00000032219 OTTHUMG00000140320 uc001xdp.4 S57153 NM_023001 "CCDS45114|CCDS9733|CCDS9732" P29374 "1857421|8455946" MGI:2444354 RGD:1307442 180201 HGNC:9885 "ENST00000355431.8|NM_002892.4" +HGNC:15550 ARID4B AT-rich interaction domain 4B protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "BCAA|BRCAA1|SAP180" RBP1L1 "retinoblastoma binding protein 1-like 1|AT rich interactive domain 4B (RBP1- like)|AT rich interactive domain 4B (RBP1-like)" "AT-rich interaction domain containing|MicroRNA protein coding host genes" "418|1691" 2003-05-28 2004-01-30 2015-11-17 2015-11-17 51742 ENSG00000054267 OTTHUMG00000039621 uc001hwq.3 AF214114 NM_016374 "CCDS31061|CCDS31060" Q4LE39 11481388 MGI:2137512 RGD:619919 609696 HGNC:15550 "ENST00000264183.9|NM_016374.6" +HGNC:17361 ARID5A AT-rich interaction domain 5A protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "MRF-1|RP11-363D14" modulator recognition factor 1 AT rich interactive domain 5A (MRF1-like) AT-rich interaction domain containing 418 2004-01-28 2015-11-17 2016-10-05 10865 ENSG00000196843 OTTHUMG00000155229 uc002swe.4 M62324 NM_212481 "CCDS82484|CCDS33251" Q03989 8649988 MGI:2443039 RGD:1311041 611583 HGNC:17361 "ENST00000357485.8|NM_212481.3" +HGNC:17362 ARID5B AT-rich interaction domain 5B protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "FLJ21150|MRF2" AT rich interactive domain 5B (MRF1-like) AT-rich interaction domain containing 418 2004-01-28 2015-11-17 2016-10-19 84159 ENSG00000150347 OTTHUMG00000018298 uc001jlt.3 M73837 NM_032199 "CCDS58082|CCDS31208" Q14865 "11483573|11478881" MGI:2175912 RGD:1311735 608538 HGNC:17362 "ENST00000279873.12|NM_032199.3" HGNC:17362 +HGNC:689 ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "HARI|HHARI|UBCH7BP|ARI" ariadne, Drosophila, homolog of "ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1|ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)" RBR E3 ubiquitin ligases 1391 2000-08-24 2013-10-03 2020-09-17 25820 ENSG00000166233 OTTHUMG00000133474 uc002aut.5 AF072832 NM_005744 CCDS10244 Q9Y4X5 "10521492|24058416" MGI:1344363 RGD:1308131 605624 469964 HGNC:689 "ENST00000379887.9|NM_005744.5" +HGNC:690 ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 TRIAD1 all-trans retinoic acid inducible RING finger "ariadne (Drosophila) homolog 2|ariadne homolog 2 (Drosophila)" RBR E3 ubiquitin ligases 1391 2000-08-24 2013-10-03 2020-09-17 10425 ENSG00000177479 OTTHUMG00000133547 uc003cvb.4 AF099149 NM_006321 CCDS2780 O95376 "10422847|24058416" MGI:1344361 RGD:1305839 605615 HGNC:690 "ENST00000356401.9|NM_006321.4" +HGNC:34425 ARIH2OS ARIH2 opposite strand lncRNA non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 C3orf71 "chromosome 3 open reading frame 71|ariadne homolog 2 opposite strand|ariadne RBR E3 ubiquitin protein ligase 2 opposite strand" Long non-coding RNAs with non-systematic symbols 1992 2008-07-08 2012-10-08 2019-10-30 2019-10-30 646450 ENSG00000221883 OTTHUMG00000156672 uc010hkk.1 DA461567 NR_161301 Q8N7S6 MGI:3642291 RGD:11443615 HGNC:34425 +HGNC:31732 ARIH2P1 ariadne RBR E3 ubiquitin protein ligase 2 pseudogene 1 pseudogene pseudogene Approved 18q12.1 18q12.1 ARIH2P "ariadne homolog 2 pseudogene|ariadne homolog 2 pseudogene 1" 2008-01-31 2010-01-12 2015-06-26 2017-10-25 390844 ENSG00000266296 OTTHUMG00000179464 XR_016965 PGOHUM00000294759 HGNC:31732 +HGNC:692 ARL1 ADP ribosylation factor like GTPase 1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 ARFL1 ADP-ribosylation factor-like 1 ARF GTPase family 357 1994-04-14 2015-11-19 2020-09-17 400 ENSG00000120805 OTTHUMG00000170271 uc001tib.4 BX537387 NM_001177 "CCDS73510|CCDS44958" P40616 "8798635|19224922" MGI:99436 RGD:621326 603425 HGNC:692 "ENST00000261636.13|NM_001177.6" +HGNC:693 ARL2 ADP ribosylation factor like GTPase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 ARFL2 ADP-ribosylation factor-like 2 "ARF GTPase family|MicroRNA protein coding host genes" "357|1691" 1994-04-13 2015-11-19 2021-05-26 402 ENSG00000213465 OTTHUMG00000165728 uc001och.5 AF493888 NM_001667 "CCDS55770|CCDS8088" P36404 "8415637|9253601" MGI:1928393 RGD:69326 601175 HGNC:693 "ENST00000246747.9|NM_001667.4" HGNC:693 +HGNC:49197 ARL2-SNX15 ARL2-SNX15 readthrough (NMD candidate) other readthrough Approved 11q13.1 11q13.1 2013-09-30 2016-11-09 100528018 ENSG00000273003 OTTHUMG00000185851 NR_037650 HGNC:49197 +HGNC:17146 ARL2BP ADP ribosylation factor like GTPase 2 binding protein protein-coding gene gene with protein product Approved 16q13 16q13 "BART1|BART" binder of Arl2 RP66 "retinitis pigmentosa 66 (autosomal recessive)|ADP-ribosylation factor-like 2 binding protein" 2004-02-12 2015-11-19 2021-05-26 23568 ENSG00000102931 OTTHUMG00000133459 uc002elf.2 AF126062 NM_012106 CCDS10776 Q9Y2Y0 "10488091|18981177|23849777" MGI:1349429 RGD:1561471 615407 363162 HGNC:17146 "ENST00000219204.8|NM_012106.4" HGNC:17146 +HGNC:17742 ARL2BPP1 ADP ribosylation factor like GTPase 2 binding protein pseudogene 1 pseudogene pseudogene Approved 18q23 18q23 HsT2883 ADP-ribosylation factor-like 2 binding protein pseudogene 1 2004-02-12 2015-11-19 2017-10-25 399666 ENSG00000265934 OTTHUMG00000179327 NG_028708 PGOHUM00000294692 HGNC:17742 +HGNC:31036 ARL2BPP2 ADP ribosylation factor like GTPase 2 binding protein pseudogene 2 pseudogene pseudogene Approved 12q13.13 12q13.13 bcm1040 ARL2BPL "ADP-ribosylation factor-like 2 binding protein-like|ADP-ribosylation factor-like 2 binding protein pseudogene 2" 2004-02-12 2011-01-14 2015-11-19 2020-04-20 643898 ENSG00000258071 OTTHUMG00000169796 NG_030318 PGOHUM00000239787 HGNC:31036 +HGNC:39447 ARL2BPP3 ADP ribosylation factor like GTPase 2 binding protein pseudogene 3 pseudogene pseudogene Approved 13q13.3 13q13.3 ADP-ribosylation factor-like 2 binding protein pseudogene 3 2011-01-14 2015-11-19 2015-11-19 646879 ENSG00000215486 OTTHUMG00000016739 NG_022943 PGOHUM00000248568 HGNC:39447 +HGNC:39448 ARL2BPP4 ADP ribosylation factor like GTPase 2 binding protein pseudogene 4 pseudogene pseudogene Approved 5q23.3 05q23.3 ADP-ribosylation factor-like 2 binding protein pseudogene 4 2011-01-14 2015-11-19 2015-11-19 100130265 ENSG00000249312 OTTHUMG00000163039 NG_028952 PGOHUM00000235752 HGNC:39448 +HGNC:39449 ARL2BPP5 ADP ribosylation factor like GTPase 2 binding protein pseudogene 5 pseudogene pseudogene Approved 5q34 05q34 ADP-ribosylation factor-like 2 binding protein pseudogene 5 2011-01-14 2015-11-19 2015-11-19 100874420 ENSG00000254351 OTTHUMG00000163550 NG_032305 PGOHUM00000235825 HGNC:39449 +HGNC:39450 ARL2BPP6 ADP ribosylation factor like GTPase 2 binding protein pseudogene 6 pseudogene pseudogene Approved 5q35.2 05q35.2 ADP-ribosylation factor-like 2 binding protein pseudogene 6 2011-01-14 2015-11-19 2015-11-19 100874421 ENSG00000248355 OTTHUMG00000163133 NG_032306 PGOHUM00000235842 HGNC:39450 +HGNC:39451 ARL2BPP7 ADP ribosylation factor like GTPase 2 binding protein pseudogene 7 pseudogene pseudogene Approved 9q31.1 09q31.1 ADP-ribosylation factor-like 2 binding protein pseudogene 7 2011-01-14 2015-11-19 2015-11-19 100131629 ENSG00000230418 OTTHUMG00000020390 NG_028958 PGOHUM00000236291 HGNC:39451 +HGNC:39452 ARL2BPP8 ADP ribosylation factor like GTPase 2 binding protein pseudogene 8 pseudogene pseudogene Approved 17q22 17q22 ADP-ribosylation factor-like 2 binding protein pseudogene 8 2011-01-14 2015-11-19 2017-10-25 100131784 ENSG00000263125 OTTHUMG00000177815 NG_028975 PGOHUM00000294157 HGNC:39452 +HGNC:39453 ARL2BPP9 ADP ribosylation factor like GTPase 2 binding protein pseudogene 9 pseudogene pseudogene Approved 17q25.3 17q25.3 ADP-ribosylation factor-like 2 binding protein pseudogene 9 2011-01-14 2015-11-19 2015-11-19 100421675 NG_026204 PGOHUM00000237189 HGNC:39453 +HGNC:39454 ARL2BPP10 ADP ribosylation factor like GTPase 2 binding protein pseudogene 10 pseudogene pseudogene Approved 22q11.21 22q11.21 ADP-ribosylation factor-like 2 binding protein pseudogene 10 2011-01-14 2015-11-19 2015-11-19 100874449 ENSG00000225225 OTTHUMG00000155640 NG_032307 PGOHUM00000246217 HGNC:39454 +HGNC:694 ARL3 ADP ribosylation factor like GTPase 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 ARFL3 ADP-ribosylation factor-like 3 ARF GTPase family 357 1994-04-14 2015-11-19 2021-05-26 403 ENSG00000138175 OTTHUMG00000018965 uc001kwa.4 U07151 NM_004311 CCDS7538 P36405 "8034651|10072593" MGI:1929699 RGD:69327 604695 HGNC:694 "ENST00000260746.6|NM_004311.4" HGNC:694 +HGNC:695 ARL4A ADP ribosylation factor like GTPase 4A protein-coding gene gene with protein product Approved 7p21.3 07p21.3 ARL4 "ADP-ribosylation factor-like 4|ADP-ribosylation factor-like 4A" ARF GTPase family 357 1999-06-02 2005-11-03 2015-11-19 2020-09-17 10124 ENSG00000122644 OTTHUMG00000023374 uc003sss.4 U73960 NM_005738 CCDS5359 P40617 22159419 MGI:99437 RGD:2152 604786 HGNC:695 "ENST00000651779.1|NM_005738.5" +HGNC:17741 ARL4AP1 ADP ribosylation factor like GTPase 4A pseudogene 1 pseudogene pseudogene Approved 10q21.2 10q21.2 Em:AC022390.2 similar to ADP-ribosylation factor-like protein 4 "ARL4B|ARL4P" "ADP-ribosylation factor-like 4B|ADP-ribosylation factor-like 4 pseudogene|ADP-ribosylation factor-like 4A pseudogene 1" 2004-05-27 2015-10-15 2015-11-19 2016-08-18 387684 ENSG00000122872 OTTHUMG00000018289 XM_370560 PGOHUM00000290174 HGNC:17741 +HGNC:32379 ARL4AP2 ADP ribosylation factor like GTPase 4A pseudogene 2 pseudogene pseudogene Approved 4p14 04p14 ARL4P2 "ADP-ribosylation factor-like 4 pseudogene 2|ADP-ribosylation factor-like 4A pseudogene 2" 2005-11-07 2015-10-15 2015-11-19 2015-11-19 152709 ENSG00000248780 OTTHUMG00000160406 NG_005394 HGNC:32379 +HGNC:52372 ARL4AP3 ADP ribosylation factor like GTPase 4A pseudogene 3 pseudogene pseudogene Approved 10p15.1 10p15.1 2016-08-18 2016-08-18 107984161 ENSG00000228291 OTTHUMG00000017589 PGOHUM00000290038 HGNC:52372 +HGNC:52373 ARL4AP4 ADP ribosylation factor like GTPase 4A pseudogene 4 pseudogene pseudogene Approved 3p24.2 03p24.2 2016-08-18 2016-08-18 100420471 ENSG00000231395 OTTHUMG00000155579 NG_025557 PGOHUM00000298971 HGNC:52373 +HGNC:52374 ARL4AP5 ADP ribosylation factor like GTPase 4A pseudogene 5 pseudogene pseudogene Approved 6q25.1 06q25.1 2016-08-18 2016-08-18 101928788 ENSG00000218996 OTTHUMG00000015826 XM_047419643 PGOHUM00000301991 HGNC:52374 +HGNC:698 ARL4C ADP ribosylation factor like GTPase 4C protein-coding gene gene with protein product Approved 2q37.1 02q37.1 LAK ARL7 "ADP-ribosylation factor-like 7|ADP-ribosylation factor-like 4C" ARF GTPase family 357 1999-06-02 2005-11-03 2015-11-19 2020-09-17 10123 ENSG00000188042 OTTHUMG00000133291 uc002vvn.5 AB016811 NM_005737 "CCDS63169|CCDS2512" P56559 10462049 MGI:2445172 RGD:1589685 604787 HGNC:698 "ENST00000339728.6|NM_001282431.2" +HGNC:656 ARL4D ADP ribosylation factor like GTPase 4D protein-coding gene gene with protein product Approved 17q21.31 17q21.31 ARF4L "ADP-ribosylation factor 4-like|ADP-ribosylation factor-like 4D" ARF GTPase family 357 1995-08-23 2005-11-03 2015-11-19 2020-09-17 379 ENSG00000175906 OTTHUMG00000180881 uc002idt.4 AB060692 NM_001661 CCDS11463 P49703 "7590735|22927989" MGI:1933155 RGD:1306875 600732 HGNC:656 "ENST00000320033.5|NM_001661.4" +HGNC:696 ARL5A ADP ribosylation factor like GTPase 5A protein-coding gene gene with protein product Approved 2q23.3 02q23.3 ARL5 "ADP-ribosylation factor-like 5|ADP-ribosylation factor-like 5A" ARF GTPase family 357 1999-11-26 2005-11-03 2015-11-19 2020-09-17 26225 ENSG00000162980 OTTHUMG00000131887 uc002txx.2 AF100740 NM_012097 "CCDS46425|CCDS2195" Q9Y689 15896705 MGI:1922673 RGD:621327 608960 HGNC:696 "ENST00000295087.13|NM_012097.4" +HGNC:43933 ARL5AP1 ARL5A pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 "ADP-ribosylation factor-like 5A pseudogene 1|ADP ribosylation factor like GTPase 5A pseudogene 1" 2012-05-10 2020-05-20 2020-05-20 641382 ENSG00000227864 OTTHUMG00000022265 NG_005344 PGOHUM00000241514 HGNC:43933 +HGNC:43937 ARL5AP2 ARL5A pseudogene 2 pseudogene pseudogene Approved 10q24.2 10q24.2 "ADP-ribosylation factor-like 5A pseudogene 2|ADP ribosylation factor like GTPase 5A pseudogene 2" 2012-05-10 2020-05-20 2020-05-20 641380 ENSG00000236818 OTTHUMG00000018878 NG_005342 PGOHUM00000238605 HGNC:43937 +HGNC:43935 ARL5AP3 ARL5A pseudogene 3 pseudogene pseudogene Approved 1p31.3 01p31.3 "ADP-ribosylation factor-like 5A pseudogene 3|ADP ribosylation factor like GTPase 5A pseudogene 3" 2012-05-10 2020-05-20 2020-05-20 106480778 ENSG00000228431 OTTHUMG00000057527 NG_011753 PGOHUM00000244062 HGNC:43935 +HGNC:43936 ARL5AP4 ARL5A pseudogene 4 pseudogene pseudogene Approved 22q11.23 22q11.23 "ADP-ribosylation factor-like 5A pseudogene 4|ADP ribosylation factor like GTPase 5A pseudogene 4" 2012-05-10 2020-05-20 2020-05-20 641379 ENSG00000224806 OTTHUMG00000155636 NG_005341 PGOHUM00000246542 HGNC:43936 +HGNC:55001 ARL5AP5 ARL5A pseudogene 5 pseudogene pseudogene Approved Xq13.3 Xq13.3 2020-05-20 2020-05-20 641378 ENSG00000232332 NG_005340 +HGNC:23052 ARL5B ADP ribosylation factor like GTPase 5B protein-coding gene gene with protein product Approved 10p12.31 10p12.31 ARL8 "ADP-ribosylation factor-like 8|ADP-ribosylation factor-like 5B" ARF GTPase family 357 2003-08-27 2005-11-03 2015-11-19 2016-10-05 221079 ENSG00000165997 OTTHUMG00000017765 uc001iqd.2 AF494061 NM_178815 CCDS7131 Q96KC2 "12853149|22245584" MGI:1923119 RGD:1305569 608909 HGNC:23052 "ENST00000377275.4|NM_178815.5" +HGNC:31111 ARL5C ADP ribosylation factor like GTPase 5C protein-coding gene gene with protein product Approved 17q12 17q12 ARL12 "ADP-ribosylation factor-like 12|ADP-ribosylation factor-like 5C" ARF GTPase family 357 2004-02-17 2005-11-08 2015-11-19 2015-11-19 390790 ENSG00000141748 OTTHUMG00000179048 uc010wea.3 NM_001143968 CCDS45664 A6NH57 MGI:3028577 RGD:1563128 HGNC:31111 "ENST00000269586.12|NM_001143968.1" +HGNC:13210 ARL6 ADP ribosylation factor like GTPase 6 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 RP55 BBS3 ADP-ribosylation factor-like 6 ARF GTPase family 357 2004-08-18 2015-11-19 2021-05-26 84100 ENSG00000113966 OTTHUMG00000159189 uc010hoy.6 BC024239 NM_032146 CCDS2928 Q9H0F7 "15258860|15314642|21282186" MGI:1927136 RGD:1305535 608845 121421 HGNC:13210 "ENST00000463745.6|NM_001278293.3" HGNC:13210 +HGNC:697 ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "AIP1|ARMER|KIAA0069|SPG61" ARL6IP "ADP-ribosylation factor-like 6 interacting protein|ADP-ribosylation factor-like 6 interacting protein 1" 2000-06-16 2006-09-26 2015-11-19 2020-09-17 23204 ENSG00000170540 OTTHUMG00000131367 uc002dfl.2 BC010281 NM_015161 "CCDS81951|CCDS10572" Q15041 24482476 MGI:1858943 RGD:735205 607669 403310 HGNC:697 "ENST00000304414.12|NM_015161.3" HGNC:697 +HGNC:23178 ARL6IP1P1 ADP ribosylation factor like GTPase 6 interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 ARL6IPP1 "ADP-ribosylation factor-like 6 interacting protein pseudogene 1|ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 1" 2003-09-30 2009-12-17 2015-11-19 2015-11-19 100288702 ENSG00000255664 OTTHUMG00000168891 NG_022838 HGNC:23178 +HGNC:44971 ARL6IP1P2 ADP ribosylation factor like GTPase 6 interacting protein 1 pseudogene 2 pseudogene pseudogene Approved 10p11.21 10p11.21 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 2 2012-12-20 2015-11-19 2015-11-19 646348 ENSG00000225355 OTTHUMG00000017967 NG_022169 PGOHUM00000258514 HGNC:44971 +HGNC:44972 ARL6IP1P3 ADP ribosylation factor like GTPase 6 interacting protein 1 pseudogene 3 pseudogene pseudogene Approved 11q14.1 11q14.1 ADP-ribosylation factor-like 6 interacting protein 1 pseudogene 3 2012-12-20 2015-11-19 2015-11-19 729790 ENSG00000255014 OTTHUMG00000166792 NG_021793 PGOHUM00000258573 HGNC:44972 +HGNC:18076 ARL6IP4 ADP ribosylation factor like GTPase 6 interacting protein 4 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SR-25|SRp25|SFRS20|SRrp37" "SRp25 nuclear protein|splicing factor, arginine/serine-rich 20" "ADP-ribosylation-like factor 6 interacting protein 4|ADP-ribosylation factor-like 6 interacting protein 4" 2002-09-18 2015-11-19 2016-04-25 51329 ENSG00000182196 OTTHUMG00000168779 uc001uee.4 AB035384 NM_018694 CCDS61273 Q66PJ3 "10708573|11884129" MGI:1929500 RGD:1307657 607668 HGNC:18076 "ENST00000315580.10|NM_018694.4" +HGNC:16937 ARL6IP5 ADP ribosylation factor like GTPase 6 interacting protein 5 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "PRAF3|JWA|GTRAP3-18|DERP11|HSPC127|Yip6b" PRA1 domain family 3 ADP-ribosylation factor-like 6 interacting protein 5 YIP family 1144 2004-09-01 2015-11-19 2016-10-05 10550 ENSG00000144746 OTTHUMG00000158773 uc003dnr.4 AF070523 NM_006407 CCDS2912 O75915 "11242046|11042152" MGI:1929501 RGD:708572 605709 HGNC:16937 "ENST00000273258.4|NM_006407.4" +HGNC:24048 ARL6IP6 ADP ribosylation factor like GTPase 6 interacting protein 6 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 MGC33864 ADP-ribosylation factor-like 6 interacting protein 6 2004-11-29 2015-11-19 2016-10-05 151188 ENSG00000177917 OTTHUMG00000131901 uc002tyn.4 AK023109 NM_152522 CCDS2197 Q8N6S5 MGI:1929507 RGD:1564819 616495 HGNC:24048 "ENST00000326446.10|NM_152522.7" +HGNC:25192 ARL8A ADP ribosylation factor like GTPase 8A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ45195|Gie2" GTPase indispensable for equal segregation of chromosomes 2 ARL10B "ADP-ribosylation factor-like 10B|ADP-ribosylation factor-like 8A" ARF GTPase family 357 2004-02-05 2005-11-03 2015-11-19 2021-08-31 127829 ENSG00000143862 OTTHUMG00000035923 uc001gxk.3 BC015408 NM_138795 "CCDS73004|CCDS1421" Q96BM9 "15331635|16537643" MGI:1915974 RGD:1565940 616597 HGNC:25192 "ENST00000272217.7|NM_138795.4" HGNC:25192 +HGNC:25564 ARL8B ADP ribosylation factor like GTPase 8B protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "FLJ10702|Gie1" GTPase indispensable for equal segregation of chromosomes 1 ARL10C "ADP-ribosylation factor-like 10C|ADP-ribosylation factor-like 8B" ARF GTPase family 357 2004-02-05 2005-11-03 2015-11-19 2021-08-31 55207 ENSG00000134108 OTTHUMG00000090463 uc003bqg.4 AK001564 NM_018184 CCDS2566 Q9NVJ2 "24088571|16537643|15331635" MGI:1914416 RGD:1562830 616596 HGNC:25564 "ENST00000256496.8|NM_018184.3" +HGNC:23592 ARL9 ADP ribosylation factor like GTPase 9 protein-coding gene gene with protein product Approved 4q12 04q12 ADP-ribosylation factor like GTPase 9 ARF GTPase family 357 2003-11-25 2015-12-17 2016-10-24 132946 ENSG00000196503 OTTHUMG00000184000 uc003hby.2 AY439003 NM_206919 "CCDS59474|CCDS87224" Q6T311 MGI:1915496 RGD:1303337 612405 HGNC:23592 "ENST00000640821.3|NM_001363794.2" +HGNC:22042 ARL10 ADP ribosylation factor like GTPase 10 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 ARL10A "ADP-ribosylation factor-like 10A|ADP-ribosylation factor like GTPase 10" "ARF GTPase family|MicroRNA protein coding host genes" "357|1691" 2003-12-11 2005-11-03 2015-12-17 2016-10-05 285598 ENSG00000175414 OTTHUMG00000130655 uc003mec.2 BK001673 NM_173664 CCDS4400 Q8N8L6 MGI:1930788 RGD:1303298 HGNC:22042 "ENST00000310389.6|NM_173664.6" +HGNC:24046 ARL11 ADP ribosylation factor like GTPase 11 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "ARLTS1|FLJ33930" ADP-ribosylation factor-like tumor suppressor gene 1 ADP-ribosylation factor like GTPase 11 ARF GTPase family 357 2004-02-05 2015-12-17 2017-11-27 115761 ENSG00000152213 OTTHUMG00000016919 uc001vdf.2 AF441378 NM_138450 CCDS9419 Q969Q4 17699778 MGI:2444054 RGD:1308083 609351 121417 HGNC:24046 "ENST00000282026.2|NM_138450.6" +HGNC:31709 ARL13A ADP ribosylation factor like GTPase 13A protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 ARL13 "ADP-ribosylation factor-like 13|ADP-ribosylation factor like GTPase 13A" ARF GTPase family 357 2004-06-17 2005-11-18 2015-12-17 2016-10-19 392509 ENSG00000174225 OTTHUMG00000022013 uc010nng.4 NM_001162491 CCDS55463 Q5H913 MGI:1921698 RGD:1562947 HGNC:31709 "ENST00000450049.7|NM_001162491.2" +HGNC:25419 ARL13B ADP ribosylation factor like GTPase 13B protein-coding gene gene with protein product Approved 3q11.1-q11.2 03q11.1-q11.2 "DKFZp761H079|JBTS8" ARL2L1 "ADP-ribosylation factor-like 2-like 1|ADP-ribosylation factor like GTPase 13B" ARF GTPase family 357 2004-08-18 2005-11-18 2015-12-17 2021-05-26 200894 ENSG00000169379 OTTHUMG00000159012 uc003drd.4 AL713789 NM_182896 "CCDS2925|CCDS2924|CCDS54615" Q3SXY8 "15314642|18674751" MGI:1915396 RGD:1584979 608922 179401 HGNC:25419 "ENST00000394222.8|NM_001174150.2" HGNC:25419 +HGNC:22974 ARL14 ADP ribosylation factor like GTPase 14 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 FLJ22595 ARF7 "ADP-ribosylation factor 7|ADP-ribosylation factor like GTPase 14" ARF GTPase family 357 2003-08-07 2005-11-03 2015-12-17 2020-04-20 80117 ENSG00000179674 OTTHUMG00000159031 uc003fdq.4 AK026248 NM_025047 CCDS3192 Q8N4G2 15367757 MGI:1918869 RGD:9465124 614439 HGNC:22974 "ENST00000320767.4|NM_025047.3" +HGNC:26798 ARL14EP ADP ribosylation factor like GTPase 14 effector protein protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "FLJ38968|ARF7EP" C11orf46 "chromosome 11 open reading frame 46|ADP-ribosylation factor like GTPase 14 effector protein" 2005-10-28 2012-07-09 2015-12-17 2021-05-26 120534 ENSG00000152219 OTTHUMG00000166154 uc001mso.2 AK096287 NM_152316 CCDS7869 Q8N8R7 21458045 MGI:1926020 RGD:1311463 LRG_881|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_881.xml 612295 HGNC:26798 "ENST00000282032.4|NM_152316.3" +HGNC:55517 ARL14EP-DT ARL14EP divergent transcript non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 Divergent transcripts 1990 2021-03-17 2021-03-17 105376607 ENSG00000254532 XR_007062639 +HGNC:44201 ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like protein-coding gene gene with protein product Approved 5q23.1 05q23.1 ADP-ribosylation factor like GTPase 14 effector protein like 2012-07-09 2015-12-17 2018-03-19 644100 ENSG00000268223 OTTHUMG00000182725 uc021yct.3 NM_001195581 CCDS59490 P0DKL9 MGI:2685795 RGD:1595054 HGNC:44201 "ENST00000686077.1|NM_001195581.2" +HGNC:54676 ARL14EPP1 ARL14EP pseudogene 1 pseudogene pseudogene Approved 2p22.2 02p22.2 2019-11-27 2020-01-21 107985793 ENSG00000224891 +HGNC:25945 ARL15 ADP ribosylation factor like GTPase 15 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FLJ20051 ARFRP2 "ADP-ribosylation factor related protein 2|ADP-ribosylation factor like GTPase 15" "ARF GTPase family|MicroRNA protein coding host genes" "357|1691" 2004-02-05 2005-11-03 2015-12-17 2017-07-14 54622 ENSG00000185305 OTTHUMG00000162287 uc003jpg.1 BC026093 NM_019087 CCDS54850 Q9NXU5 28322786 MGI:2442308 RGD:1597407 HGNC:25945 "ENST00000504924.6|NM_019087.3" +HGNC:27902 ARL16 ADP ribosylation factor like GTPase 16 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 ADP-ribosylation factor like GTPase 16 ARF GTPase family 357 2005-11-18 2015-12-17 2017-07-14 339231 ENSG00000214087 OTTHUMG00000178103 uc060llx.1 NM_001040025 CCDS86652 Q0P5N6 21233210 MGI:1917567 RGD:1590059 619117 HGNC:27902 "ENST00000622299.5|NM_001040025.3" +HGNC:24096 ARL17A ADP ribosylation factor like GTPase 17A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "ARF1P2|ARL17P1" "ADP-ribosylation factor 1 pseudogene 2|ADP-ribosylation factor-like 17 pseudogene 1|ADP-ribosylation factor like GTPase 17A" ARF GTPase family 357 2005-11-07 2009-11-17 2015-12-17 2017-07-14 51326 ENSG00000185829 OTTHUMG00000132817 uc002iks.3 AF208864 NM_016632 "CCDS45718|CCDS45717|CCDS74086|CCDS82146|CCDS74087" Q8IVW1 28380446 RGD:621271 HGNC:24096 "ENST00000336125.6|NM_001113738.2" +HGNC:32387 ARL17B ADP ribosylation factor like GTPase 17B protein-coding gene gene with protein product Approved 17q21.31 17q21.31 ARL17 "ADP-ribosylation factor-like 17|ADP-ribosylation factor-like 17B" ARF GTPase family 357 2007-03-19 2009-11-17 2015-11-19 2015-11-19 100506084 ENSG00000228696 OTTHUMG00000178031 uc002ikk.4 AF493886 NM_001039083 "CCDS86607|CCDS58557|CCDS82144|CCDS54137" Q8IVW1 HGNC:32387 "ENST00000450673.4|NM_001039083.5" +HGNC:53032 ARLNC1 androgen receptor regulated long noncoding RNA 1 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 PRCAT47 "prostate cancer-associated 47|AR-regulated long noncoding RNA 1" LINC02170 long intergenic non-protein coding RNA 2170 Long non-coding RNAs with non-systematic symbols 1992 2017-01-09 2018-06-08 2018-06-08 2018-06-08 100996425 ENSG00000260896 OTTHUMG00000177012 NR_131947 29808028 618053 HGNC:53032 +HGNC:17684 ARMC1 armadillo repeat containing 1 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "FLJ10511|Arcp" Armadillo repeat containing 409 2004-09-16 2016-10-05 55156 ENSG00000104442 OTTHUMG00000164374 uc003xvl.4 BC011607 NM_018120 "CCDS6181|CCDS69490" Q9NVT9 MGI:1921502 RGD:1560393 HGNC:17684 "ENST00000276569.8|NM_018120.6" +HGNC:23045 ARMC2 armadillo repeat containing 2 protein-coding gene gene with protein product Approved 6q21 06q21 "DKFZp434P0714|bA787I22.1" Armadillo repeat containing 409 2003-11-25 2014-11-18 84071 ENSG00000118690 OTTHUMG00000015335 uc003pss.6 BC030603 NM_032131 "CCDS69168|CCDS5069" Q8NEN0 MGI:1916449 RGD:1562413 618424 HGNC:23045 "ENST00000392644.9|NM_032131.6" HGNC:23045 +HGNC:41008 ARMC2-AS1 ARMC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 ARMC2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-26 2012-08-15 2014-11-19 101929716 ENSG00000230290 OTTHUMG00000015334 uc063qmf.1 BG504478 NR_104137 ARMC2-AS1 HGNC:41008 +HGNC:30964 ARMC3 armadillo repeat containing 3 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "FLJ32827|CT81" cancer/testis antigen 81 Armadillo repeat containing 409 2004-02-12 2016-10-05 219681 ENSG00000165309 OTTHUMG00000017811 uc001irm.6 AK057389 NM_173081 "CCDS60499|CCDS73073|CCDS7142|CCDS60500" Q5W041 MGI:1918132 RGD:2319961 611226 HGNC:30964 "ENST00000298032.10|NM_173081.5" +HGNC:25781 ARMC5 armadillo repeat containing 5 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ13063 Armadillo repeat containing 409 2004-06-29 2020-03-03 79798 ENSG00000140691 OTTHUMG00000176618 uc002eca.5 AY217348 NM_024742 "CCDS45472|CCDS42155|CCDS73874" Q96C12 32023208 MGI:2384586 RGD:1306553 615549 392330 HGNC:25781 "ENST00000268314.9|NM_001105247.2" HGNC:25781 +HGNC:25049 ARMC6 armadillo repeat containing 6 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MGC19595 Armadillo repeat containing 409 2004-07-30 2022-01-10 93436 ENSG00000105676 OTTHUMG00000169271 uc002nlc.4 BX648486 NM_033415 "CCDS32965|CCDS56089" Q6NXE6 29948659 MGI:1924063 RGD:1306691 HGNC:25049 "ENST00000535612.6|NM_001199196.2" +HGNC:26168 ARMC7 armadillo repeat containing 7 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 FLJ22160 Armadillo repeat containing 409 2004-07-30 2022-01-10 79637 ENSG00000125449 OTTHUMG00000179345 uc002jmw.1 AK025813 NM_024585 "CCDS77107|CCDS11714|CCDS77109|CCDS77108" Q9H6L4 33509932 MGI:2679719 RGD:1310043 HGNC:26168 "ENST00000245543.6|NM_024585.4" +HGNC:24999 ARMC8 armadillo repeat containing 8 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "HSPC056|DKFZP434A043|GID5|VID28" GID complex subunit 5, VID28 homolog (S. cerevisiae) "Armadillo repeat containing|CTLH complex" "409|1561" 2004-07-12 2016-10-05 25852 ENSG00000114098 OTTHUMG00000159821 uc062ofg.1 NM_015396 "CCDS3098|CCDS87139|CCDS87140|CCDS58854|CCDS54646|CCDS58853|CCDS75020" Q8IUR7 11042152 MGI:1921375 RGD:1310477 618521 HGNC:24999 "ENST00000469044.6|NM_001363941.2" +HGNC:49918 ARMC8P1 armadillo repeat containing 8 pseudogene 1 pseudogene pseudogene Approved 9p13.1 09p13.1 2014-03-21 2014-03-21 100130871 ENSG00000225254 OTTHUMG00000019940 NG_028720 PGOHUM00000236034 HGNC:49918 +HGNC:20730 ARMC9 armadillo repeat containing 9 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "FLJ12584|KIAA1868|ARM|KU-MEL-1" "Armadillo repeat containing|MicroRNA protein coding host genes" "409|1691" 2005-10-04 2014-11-18 80210 ENSG00000135931 OTTHUMG00000133229 uc002vrq.6 BC004514 NM_025139 "CCDS2484|CCDS74666" Q7Z3E5 11347906 MGI:1926045 RGD:1305615 617612 HGNC:20730 "ENST00000611582.5|NM_001352754.2" HGNC:20730 +HGNC:21706 ARMC10 armadillo repeat containing 10 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC3195|SVH" specific Splicing Variant involved in Hepatocarcinogenesis Armadillo repeat containing 409 2007-01-26 2014-11-19 83787 ENSG00000170632 OTTHUMG00000157201 uc003vax.3 AY150853 NM_031905 "CCDS5728|CCDS55149|CCDS55148|CCDS55145|CCDS55146|CCDS55147" Q8N2F6 12839973 MGI:1914461 RGD:1305915 611864 HGNC:21706 "ENST00000323716.8|NM_031905.5" +HGNC:43646 ARMC10P1 armadillo repeat containing 10 pseudogene 1 pseudogene pseudogene Approved 3q11.2 03q11.2 2011-12-14 2011-12-14 389137 ENSG00000178660 OTTHUMG00000159019 NG_012229 HGNC:43646 +HGNC:21099 ARMC12 armadillo repeat containing 12 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 FLJ25390 C6orf81 chromosome 6 open reading frame 81 Armadillo repeat containing 409 2003-05-19 2011-12-14 2011-12-14 2014-11-18 221481 ENSG00000157343 OTTHUMG00000014577 uc003ola.5 AK058119 NM_145028 "CCDS4809|CCDS69094|CCDS69093" Q5T9G4 MGI:1914895 RGD:1306008 HGNC:21099 "ENST00000373866.4|NM_001286574.2" +HGNC:18073 ARMCX1 armadillo repeat containing X-linked 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "ALEX1|GASP7" Armadillo repeat containing 409 2004-05-10 2018-04-26 2020-04-02 51309 ENSG00000126947 OTTHUMG00000022033 uc004ehv.4 AB039670 NM_016608 CCDS14487 Q9P291 "11162520|16221301|22569362" MGI:1925498 RGD:1561629 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX1 300362 HGNC:18073 "ENST00000372829.8|NM_016608.2" +HGNC:16869 ARMCX2 armadillo repeat containing X-linked 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "ALEX2|KIAA0512|GASP9" Armadillo repeat containing 409 2004-05-10 2018-04-26 2020-04-02 9823 ENSG00000184867 OTTHUMG00000022038 uc004eif.5 AB011084 NM_014782 CCDS14490 Q7L311 "9628581|11162520|16221301|22569362" MGI:1914666 RGD:1359132 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX2 300363 HGNC:16869 "ENST00000356824.9|NM_177949.4" +HGNC:24065 ARMCX3 armadillo repeat containing X-linked 3 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "ALEX3|GASP6" Armadillo repeat containing 409 2004-05-10 2018-04-26 2020-04-02 51566 ENSG00000102401 OTTHUMG00000022035 uc004ehz.2 AY359079 NM_016607 CCDS14489 Q9UH62 "11162520|11042152|19304657|16221301|22569362" MGI:1918953 RGD:1549739 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX3 300364 HGNC:24065 "ENST00000471229.7|NM_177947.3" +HGNC:41038 ARMCX3-AS1 ARMCX3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.1 Xq22.1 ARMCX3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100128574 ENSG00000228275 OTTHUMG00000022037 uc065aib.1 ARMCX3-AS1 +HGNC:28615 ARMCX4 armadillo repeat containing X-linked 4 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "MGC40053|GASP4" CXorf35 "chromosome X open reading frame 35|armadillo repeat containing, X-linked 4 pseudogene" Armadillo repeat containing 409 2004-08-10 2018-04-26 2020-04-02 100131755 ENSG00000196440 OTTHUMG00000022030 uc031tkc.1 AK096955 NM_001256155 CCDS59170 Q5H9R4 "16221301|22569362" MGI:2147887 RGD:2325053 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX4 301046 HGNC:28615 "ENST00000423738.5|NM_001256155.3" +HGNC:25772 ARMCX5 armadillo repeat containing X-linked 5 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "FLJ12969|GASP5" Armadillo repeat containing 409 2004-09-16 2018-04-26 2020-04-02 64860 ENSG00000125962 OTTHUMG00000022062 uc004ejg.4 NM_022838 CCDS14500 Q6P1M9 "16221301|22569362" MGI:2148026 RGD:7586448 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX5 301047 HGNC:25772 "ENST00000473968.7|NM_001168478.2" +HGNC:42000 ARMCX5-GPRASP2 ARMCX5-GPRASP2 readthrough other readthrough Approved Xq22.1 Xq22.1 2011-05-31 2015-08-04 100528062 ENSG00000271147 OTTHUMG00000022059 uc065ajt.1 NM_001199818.1 "MGI:1917487|MGI:2442071" HGNC:42000 +HGNC:26094 ARMCX6 armadillo repeat containing X-linked 6 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "FLJ20811|GASP10" Armadillo repeat containing 409 2004-09-16 2018-04-26 2020-04-02 54470 ENSG00000198960 OTTHUMG00000022034 uc004ehx.4 BC007677 NM_019007 CCDS14488 Q7L4S7 "16221301|22569362" MGI:2147993 RGD:1359303 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARMCX6 301048 HGNC:26094 "ENST00000361910.9|NM_019007.4" +HGNC:49917 ARMCX7P armadillo repeat containing X-linked 7, pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 "ARMCX6-ps|GASP10ps" 2014-03-21 2018-04-26 2018-04-26 653354 ENSG00000204072 OTTHUMG00000022036 NG_022684 "16221301|22569362" MGI:3648067 PGOHUM00000241910 HGNC:49917 +HGNC:34345 ARMH1 armadillo like helical domain containing 1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "MGC33556|p40" "NCRNA00082|C1orf228" "non-protein coding RNA 82|chromosome 1 open reading frame 228" Armadillo like helical domain containing 1492 2008-09-02 2018-01-31 2019-02-21 2019-02-21 339541 ENSG00000198520 OTTHUMG00000007834 uc057fvb.1 "AL122004|AY254217|BC026115" NM_001145636 CCDS53311 Q6PIY5 12477932 MGI:2686507 RGD:1563714 HGNC:34345 "ENST00000535358.6|NM_001145636.2" +HGNC:49394 ARMH2 armadillo like helical domain containing 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 C6orf229 chromosome 6 open reading frame 229 Armadillo like helical domain containing 1492 2014-01-02 2018-01-31 2019-02-21 2019-02-21 101928603 ENSG00000260286 OTTHUMG00000177257 NM_001282492 CCDS64366 H3BNL8 MGI:1916676 RGD:7707229 HGNC:49394 "ENST00000565469.4|NM_001282492.2" +HGNC:25788 ARMH3 armadillo like helical domain containing 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 FLJ13114 C10orf76 chromosome 10 open reading frame 76 Armadillo like helical domain containing 1492 2004-02-17 2018-01-31 2019-02-21 2020-06-09 79591 ENSG00000120029 OTTHUMG00000018943 uc009xwy.2 AK023176 NM_024541 CCDS41563 Q5T2E6 "31519766|31829496" MGI:1918867 RGD:9299787 HGNC:25788 "ENST00000370033.9|NM_024541.3" +HGNC:19846 ARMH4 armadillo like helical domain containing 4 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 UT2 upstream of mTORC2 C14orf37 chromosome 14 open reading frame 37 Armadillo like helical domain containing 1492 2002-11-27 2018-01-31 2019-02-21 2019-08-08 145407 ENSG00000139971 OTTHUMG00000171173 uc001xdc.4 NM_001001872 CCDS32089 Q86TY3 "25418727|26927669" MGI:1914669 RGD:1310110 HGNC:19846 "ENST00000267485.7|NM_001001872.4" +HGNC:32685 ARMS2 age-related maculopathy susceptibility 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "LOC387715|ARMD8" 2007-01-04 2013-01-23 387715 ENSG00000254636 OTTHUMG00000048232 uc001lgi.4 BC066349 NM_001099667 CCDS53585 P0C7Q2 "16080115|16174643" 611313 236977 HGNC:32685 "ENST00000528446.1|NM_001099667.3" +HGNC:17872 ARMT1 acidic residue methyltransferase 1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 FLJ12910 Protein-glutamate O-methyltransferase C6orf211 chromosome 6 open reading frame 211 Methyltransferase families 1398 2003-08-26 2015-03-02 2015-03-02 2019-04-16 79624 ENSG00000146476 OTTHUMG00000015838 AJ420548 NM_024573 "CCDS69224|CCDS5233" Q9H993 25732820 MGI:1920669 RGD:1305235 616332 HGNC:17872 "ENST00000367294.4|NM_024573.3" +HGNC:54484 ARNILA androgen receptor negatively regulated lncRNA non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 AR negatively induced lncRNA Long non-coding RNAs with non-systematic symbols 1992 2019-08-14 2019-08-14 116435288 ENSG00000235072 29844570 +HGNC:700 ARNT aryl hydrocarbon receptor nuclear translocator protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "HIF-1beta|bHLHe2" hypoxia inducible factor 1 subunit beta "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1990-01-22 2022-04-04 405 ENSG00000143437 OTTHUMG00000035011 uc001evr.2 AF001307 NM_001197325 "CCDS970|CCDS971|CCDS65641|CCDS65642" P27540 MGI:88071 RGD:2153 ARNT 126110 HGNC:700 "ENST00000358595.10|NM_001668.4" +HGNC:16876 ARNT2 aryl hydrocarbon receptor nuclear translocator 2 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "KIAA0307|bHLHe1" "Basic helix-loop-helix proteins|MicroRNA protein coding host genes|PAS domain containing" "420|1691|2127" 2001-12-05 2015-11-24 2015-11-24 9915 ENSG00000172379 OTTHUMG00000165478 uc002bfr.4 AB002305 NM_014862 CCDS32307 Q9HBZ2 11247670 MGI:107188 RGD:2154 606036 376571 HGNC:16876 "ENST00000303329.9|NM_014862.4" HGNC:16876 +HGNC:56077 ARNT2-DT ARNT2 divergent transcript non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 Divergent transcripts 1990 2021-12-15 2021-12-15 101929560 ENSG00000259495 XR_932523 +HGNC:701 ARNTL aryl hydrocarbon receptor nuclear translocator like protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "MOP3|JAP3|BMAL1|PASD3|bHLHe5|ARNTL1" "brain and muscle ARNT-like 1|basic helix-loop-helix family member e5|PAS domain containing 3|member of PAS superfamily 3" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1997-11-06 2015-11-24 2022-04-04 406 ENSG00000133794 OTTHUMG00000150623 uc001mkp.4 D89722 NM_001178 "CCDS44543|CCDS73259" O00327 "9144434|9079689" MGI:1096381 RGD:62003 602550 HGNC:701 "ENST00000403290.6|NM_001297719.2" +HGNC:18984 ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 "BMAL2|MOP9|CLIF|PASD9|bHLHe6" member of PAS superfamily 9 "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2003-08-21 2015-11-24 2022-04-04 56938 ENSG00000029153 OTTHUMG00000169257 uc001rht.3 AF246961 NM_020183 "CCDS58222|CCDS8712|CCDS58220|CCDS58219|CCDS58221" Q8WYA1 "10864977|10964693" MGI:2684845 RGD:620230 614517 HGNC:18984 "ENST00000266503.10|NM_020183.6" +HGNC:49892 ARNTL2-AS1 ARNTL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.23 12p11.23 Antisense RNAs 1987 2014-03-18 2014-03-18 101928646 ENSG00000245311 OTTHUMG00000169258 NR_109975 ARNTL2-AS1 HGNC:49892 +HGNC:703 ARPC1A actin related protein 2/3 complex subunit 1A protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "SOP2Hs|SOP2L|Arc40" "actin binding protein (Schizosaccharomyces pombe sop2-like)|SOP2-like protein" "actin related protein 2/3 complex, subunit 1A (41 kD)|actin related protein 2/3 complex subunit 1A, 41kDa" "Actin related protein 2/3 complex subunits|WD repeat domain containing" "39|362" 1999-08-06 2015-11-05 2020-09-17 10552 ENSG00000241685 OTTHUMG00000154553 uc003upx.3 Y08999 NM_006409 CCDS5660 Q92747 "8978670|9230079" MGI:1928896 RGD:620834 604220 HGNC:703 "ENST00000262942.10|NM_006409.4" +HGNC:704 ARPC1B actin related protein 2/3 complex subunit 1B protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "ARC41|p40-ARC|p41-ARC" "ARP2/3 protein complex subunit p41|actin related protein 2/3 complex, subunit 1A (41 kD)" "actin related protein 2/3 complex, subunit 1B (41 kD)|actin related protein 2/3 complex subunit 1B, 41kDa" "Actin related protein 2/3 complex subunits|WD repeat domain containing" "39|362" 1999-08-06 2015-11-05 2021-05-26 10095 ENSG00000130429 OTTHUMG00000154552 uc003upz.4 AF006084 NM_005720 CCDS5661 O15143 "9230079|9359840" MGI:1343142 RGD:2155 LRG_1188|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1188.xml 604223 HGNC:704 "ENST00000646101.2|NM_005720.4" HGNC:704 +HGNC:54638 ARPC1BP1 ARPC1B pseudogene 1 pseudogene pseudogene Approved 2q34 02q34 2019-10-30 2020-01-21 100288663 ENSG00000213081 NG_021551 +HGNC:705 ARPC2 actin related protein 2/3 complex subunit 2 protein-coding gene gene with protein product Approved 2q35 02q35 "p34-Arc|ARC34" "actin related protein 2/3 complex, subunit 2 (34 kD)|actin related protein 2/3 complex subunit 2, 34kDa" Actin related protein 2/3 complex subunits 39 1999-08-06 2015-11-05 2020-09-17 10109 ENSG00000163466 OTTHUMG00000133618 uc002vhd.4 AF006085 NM_005731 CCDS2410 O15144 "9359840|9230079" MGI:1923959 RGD:1305848 604224 HGNC:705 "ENST00000315717.10|NM_152862.3" +HGNC:706 ARPC3 actin related protein 2/3 complex subunit 3 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "p21-Arc|ARC21" "actin related protein 2/3 complex, subunit 3 (21 kD)|actin related protein 2/3 complex subunit 3, 21kDa" Actin related protein 2/3 complex subunits 39 1999-08-06 2015-11-05 2020-09-17 10094 ENSG00000111229 OTTHUMG00000134333 uc001tqq.5 AF006086 NM_001278556 CCDS9146 O15145 "9230079|9359840" MGI:1928375 RGD:1311985 604225 HGNC:706 "ENST00000228825.12|NM_001278556.2" +HGNC:16092 ARPC3P1 actin related protein 2/3 complex subunit 3 pseudogene 1 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ470L14.3 ARPC3B "actin related protein 2/3 complex, subunit 3B (21 kD)|actin related protein 2/3 complex, subunit 3B, 21kDa" 2001-07-17 2010-12-15 2015-11-04 2015-11-05 87171 ENSG00000226284 OTTHUMG00000032694 AL133174 NG_002363 PGOHUM00000247668 HGNC:16092 +HGNC:39431 ARPC3P2 actin related protein 2/3 complex subunit 3 pseudogene 2 pseudogene pseudogene Approved 1q32.3 01q32.3 2010-12-15 2015-11-04 2015-11-05 391160 ENSG00000238137 OTTHUMG00000037003 NG_022826 PGOHUM00000245198 HGNC:39431 +HGNC:39432 ARPC3P3 actin related protein 2/3 complex subunit 3 pseudogene 3 pseudogene pseudogene Approved 11q21 11q21 2010-12-16 2015-11-04 2020-04-07 729494 ENSG00000256745 NG_021798 PGOHUM00000242431 HGNC:39432 +HGNC:39434 ARPC3P4 actin related protein 2/3 complex subunit 3 pseudogene 4 pseudogene pseudogene Approved 11q13.4 11q13.4 2010-12-16 2015-11-04 2020-04-07 100421973 ENSG00000256898 NG_024384 PGOHUM00000242364 HGNC:39434 +HGNC:39435 ARPC3P5 actin related protein 2/3 complex subunit 3 pseudogene 5 pseudogene pseudogene Approved 6p22.3 06p22.3 2010-12-16 2015-11-04 2015-11-05 441131 ENSG00000214027 OTTHUMG00000014296 NG_022345 HGNC:39435 +HGNC:707 ARPC4 actin related protein 2/3 complex subunit 4 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "p20-Arc|ARC20" "Arp2/3 protein complex subunit p20|actin related protein 2/3 complex, subunit 4 (20 kD)" "actin related protein 2/3 complex, subunit 4 (20 kD)|actin related protein 2/3 complex subunit 4, 20kDa" Actin related protein 2/3 complex subunits 39 1999-08-06 2015-11-05 2020-09-17 10093 ENSG00000241553 OTTHUMG00000133768 uc003bsz.3 AF019888 NM_001024959 "CCDS43047|CCDS46743|CCDS56238" P59998 "9230079|9359840" MGI:1915339 RGD:1310096 604226 HGNC:707 "ENST00000397261.8|NM_005718.5" +HGNC:38830 ARPC4-TTLL3 ARPC4-TTLL3 readthrough other readthrough Approved 3p25.3 03p25.3 2011-02-21 2014-11-19 100526693 ENSG00000250151 OTTHUMG00000161408 uc003btd.5 NM_001198793.1 MGI:1915339 HGNC:38830 +HGNC:708 ARPC5 actin related protein 2/3 complex subunit 5 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "p16-Arc|ARC16|dJ127C7.3" Arp2/3 protein complex subunit p16 "actin related protein 2/3 complex, subunit 5 (16 kD)|actin related protein 2/3 complex subunit 5, 16kDa" Actin related protein 2/3 complex subunits 39 1999-08-06 2015-11-05 2020-09-17 10092 ENSG00000162704 OTTHUMG00000035326 uc057nwe.1 AF017807 NM_005717 "CCDS1357|CCDS58050" O15511 "9359840|9230079" MGI:1915021 RGD:1311791 604227 HGNC:708 "ENST00000359856.11|NM_005717.4" +HGNC:23366 ARPC5L actin related protein 2/3 complex subunit 5 like protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "MGC3038|ARC16-2" actin related protein 2/3 complex subunit 5-like Actin related protein 2/3 complex subunits 39 2003-11-14 2016-06-09 2016-10-05 81873 ENSG00000136950 OTTHUMG00000020660 uc004boz.2 AF087842 NM_030978 CCDS6859 Q9BPX5 MGI:1921442 RGD:1308867 HGNC:23366 "ENST00000353214.6|NM_030978.3" +HGNC:28782 ARPIN actin related protein 2/3 complex inhibitor protein-coding gene gene with protein product Approved 15q26.1 15q26.1 MGC61550 C15orf38 "chromosome 15 open reading frame 38|actin-related protein 2/3 complex inhibitor" 2005-10-24 2014-06-24 2017-04-28 2017-04-28 348110 ENSG00000242498 OTTHUMG00000154515 BC053602 NM_182616 "CCDS42080|CCDS73780" Q7Z6K5 24132237 MGI:1917670 RGD:1311021 615543 HGNC:28782 "ENST00000357484.10|NM_182616.4" +HGNC:38824 ARPIN-AP3S2 ARPIN-AP3S2 readthrough other readthrough Approved 15q26.1 15q26.1 C15orf38-AP3S2 C15orf38-AP3S2 readthrough 2011-02-21 2018-11-26 2018-11-26 2018-11-26 100526783 ENSG00000250021 OTTHUMG00000162161 uc002bos.5 NM_001199058.1 MGI:1917670 HGNC:38824 +HGNC:16967 ARPP19 cAMP regulated phosphoprotein 19 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "ARPP-19|ARPP-16|ARPP16|ENSAL" endosulfine alpha-like cAMP-regulated phosphoprotein, 19kDa 2009-04-20 2016-06-01 2016-10-05 10776 ENSG00000128989 OTTHUMG00000172677 uc002ace.2 AF084555 NM_006628 "CCDS81883|CCDS76757|CCDS32242" P56211 "11279279|8687439" MGI:1891691 RGD:71054 605487 HGNC:16967 "ENST00000249822.9|NM_006628.6" +HGNC:54698 ARPP19P1 ARPP19 pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 2019-11-28 2020-01-21 646227 ENSG00000231228 NG_012241 +HGNC:54699 ARPP19P2 ARPP19 pseudogene 2 pseudogene pseudogene Approved 2q11.2 02q11.2 2019-11-28 2020-01-21 643896 ENSG00000204637 NG_012240 +HGNC:16968 ARPP21 cAMP regulated phosphoprotein 21 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "ARPP-21|TARPP|R3HDM3" R3H domain containing 3 cAMP-regulated phosphoprotein, 21kDa MicroRNA protein coding host genes 1691 2010-08-12 2016-06-01 2016-10-05 10777 ENSG00000172995 OTTHUMG00000130795 uc003cgb.4 AA733082 NM_198399 "CCDS43063|CCDS58824|CCDS58823|CCDS2661" Q9UBL0 8120638 MGI:107562 RGD:1593239 605488 HGNC:16968 "ENST00000684406.1|NM_001385562.1" +HGNC:40785 ARPP21-AS1 ARPP21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.3 03p22.3 ARPP21 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874098 ENSG00000230830 OTTHUMG00000156606 uc062hzu.1 ARPP21-AS1 +HGNC:710 ARR3 arrestin 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 ARRX "arrestin 4|cone arrestin" "arrestin 3, retinal (X-arrestin)|arrestin 3 retinal (X-arrestin)" Classical arrestins 1312 1994-08-04 2016-07-08 2020-09-17 407 ENSG00000120500 OTTHUMG00000021768 uc004dyb.3 NM_004312 CCDS14399 P36575 8224247 MGI:2159617 RGD:621385 301770 HGNC:710 "ENST00000307959.9|NM_004312.3" HGNC:710 +HGNC:711 ARRB1 arrestin beta 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 arrestin 2 ARR1 arrestin, beta 1 "Classical arrestins|MicroRNA protein coding host genes" "1312|1691" 1994-01-10 2016-03-30 2020-09-17 408 ENSG00000137486 OTTHUMG00000165444 uc001owf.3 BC003636 NM_004041 "CCDS31640|CCDS44684" P49407 8486659 MGI:99473 RGD:2156 107940 HGNC:711 "ENST00000420843.7|NM_004041.5" +HGNC:712 ARRB2 arrestin beta 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "BARR2|DKFZp686L0365" arrestin 3 ARR2 arrestin, beta 2 Classical arrestins 1312 1994-01-10 2016-03-30 2020-09-17 409 ENSG00000141480 OTTHUMG00000090759 uc002fyj.4 NM_004313 "CCDS11050|CCDS58504|CCDS82039|CCDS58505|CCDS11051|CCDS59276" P32121 7695743 MGI:99474 RGD:2157 107941 HGNC:712 "ENST00000269260.7|NM_004313.4" +HGNC:28633 ARRDC1 arrestin domain containing 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC40555 alpha-arrestin 1 Alpha arrestins 1311 2004-02-09 2014-11-19 92714 ENSG00000197070 OTTHUMG00000020993 uc004cns.4 AJ420420 NM_152285 CCDS7049 Q8N5I2 23886940 MGI:2446136 RGD:1309961 619768 HGNC:28633 "ENST00000371421.9|NM_152285.4" +HGNC:23395 ARRDC1-AS1 ARRDC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 C9orf37 chromosome 9 open reading frame 37 Antisense RNAs 1987 2003-11-14 2014-07-17 2014-07-17 2014-11-19 85026 ENSG00000203993 OTTHUMG00000020988 AF267857 NR_122035 Q9H2J1 ARRDC1-AS1 HGNC:23395 +HGNC:25225 ARRDC2 arrestin domain containing 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "CLONE24945|PP2703" Alpha arrestins 1311 2004-02-10 2016-10-05 27106 ENSG00000105643 OTTHUMG00000183483 uc002nhv.3 NM_015683 "CCDS12370|CCDS32956" Q8TBH0 "8619474|9110174" MGI:1918057 RGD:1309659 HGNC:25225 "ENST00000222250.5|NM_015683.2" +HGNC:29263 ARRDC3 arrestin domain containing 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "KIAA1376|TLIMP" "alpha-arrestin 3|TBP-2-like inducible membrane protein" Alpha arrestins 1311 2004-02-11 2016-07-08 57561 ENSG00000113369 OTTHUMG00000162616 uc003kjz.3 AB037797 NM_020801 CCDS34202 Q96B67 "10718198|19605364" MGI:2145242 RGD:1359478 612464 HGNC:29263 "ENST00000265138.4|NM_020801.4" +HGNC:44145 ARRDC3-AS1 ARRDC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 ARRDC3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2016-11-24 100129716 ENSG00000281357 OTTHUMG00000189546 uc003kka.5 BC043415 NR_027435 ARRDC3-AS1 HGNC:44145 +HGNC:28087 ARRDC4 arrestin domain containing 4 protein-coding gene gene with protein product Approved 15q26.2 15q26.2 FLJ36045 Alpha arrestins 1311 2004-02-11 2017-07-14 91947 ENSG00000140450 OTTHUMG00000149849 uc010bom.4 BC028704 NM_183376 CCDS10377 Q8NCT1 28594402 MGI:1913662 RGD:1311763 619788 HGNC:28087 "ENST00000268042.7|NM_183376.3" +HGNC:31407 ARRDC5 arrestin domain containing 5 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Alpha arrestins 1311 2004-04-14 2020-04-20 645432 ENSG00000205784 OTTHUMG00000180250 uc002mbm.3 NM_001080523 CCDS45929 A6NEK1 12886014 MGI:1924170 RGD:1591748 HGNC:31407 "ENST00000650722.2|NM_001080523.3" +HGNC:713 ARSA arylsulfatase A protein-coding gene gene with protein product Approved 22q13.33 22q13.33 metachromatic leucodystrophy Sulfatases 410 1986-01-01 2021-05-26 410 ENSG00000100299 OTTHUMG00000150180 uc021wse.2 X52150 NM_000487 "CCDS14100|CCDS46736" P15289 15772092 MGI:88077 RGD:1310381 607574 121427 3.1.6.8 HGNC:713 "ENST00000216124.10|NM_000487.6" HGNC:713 +HGNC:714 ARSB arylsulfatase B protein-coding gene gene with protein product Approved 5q14.1 05q14.1 Sulfatases 410 1986-01-01 2021-05-26 411 ENSG00000113273 OTTHUMG00000108129 uc003kfq.5 M32373 NM_000046 "CCDS4043|CCDS43334" P15848 2303452 MGI:88075 RGD:2158 611542 121429 3.1.6.1 HGNC:714 "ENST00000264914.10|NM_000046.5" HGNC:714 +HGNC:716 ARSC2 arylsulfatase C, isozyme F other unknown Approved X X ARSC Sulfatases 410 1988-08-31 2013-02-14 413 "1690506|6586638" 301780 +HGNC:717 ARSD arylsulfatase D protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 Sulfatases 410 1995-04-26 2020-09-17 414 ENSG00000006756 OTTHUMG00000021077 uc004cqy.4 X83572 NM_001669 CCDS35196 P51689 7720070 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARSD 300002 HGNC:717 "ENST00000381154.6|NM_001669.4" +HGNC:40085 ARSD-AS1 ARSD antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.33 Xp22.33 ARSD antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100506356 ENSG00000229851 OTTHUMG00000021076 uc064xvj.1 NR_144459 ARSD-AS1 HGNC:40085 +HGNC:718 ARSDP1 arylsulfatase D pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 ARSDY1 arylsulfatase D, Y-linked, pseudogene 1 ARSDP arylsulfatase D pseudogene 1999-05-17 2010-01-12 2010-01-12 2020-11-17 10034 ENSG00000225117 OTTHUMG00000036380 AC002992 NG_000881.2 8845834 PGOHUM00000233955 HGNC:718 +HGNC:721 ARSF arylsulfatase F protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 Sulfatases 410 1995-04-26 2020-09-17 416 ENSG00000062096 OTTHUMG00000021081 uc004cre.3 X97868 NM_001201538 CCDS14123 P54793 7720070 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARSF 300003 HGNC:721 "ENST00000381127.6|NM_001201539.2" +HGNC:722 ARSFP1 arylsulfatase F pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 ARSFP arylsulfatase F pseudogene 1999-10-28 2010-01-12 2010-01-12 2014-11-18 23757 ENSG00000232226 OTTHUMG00000036376 NG_002804 PGOHUM00000233745 HGNC:722 +HGNC:24102 ARSG arylsulfatase G protein-coding gene gene with protein product Approved 17q24.2 17q24.2 KIAA1001 Sulfatases 410 2006-02-09 2006-02-15 2021-05-26 22901 ENSG00000141337 OTTHUMG00000179810 uc002jhc.3 AB023218 NM_014960 CCDS11676 Q96EG1 "12461688|16174644" MGI:1921258 RGD:1306571 610008 HGNC:24102 "ENST00000621439.5|NM_001267727.2" HGNC:24102 +HGNC:32488 ARSH arylsulfatase family member H protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 "arylsulfatase H|arylsulfatase family, member H" Sulfatases 410 2006-02-09 2015-11-18 2015-11-18 347527 ENSG00000205667 OTTHUMG00000159612 uc011mhj.3 AY875940 NM_001011719 CCDS35198 Q5FYA8 16174644 300586 HGNC:32488 "ENST00000381130.3|NM_001011719.2" +HGNC:32521 ARSI arylsulfatase family member I protein-coding gene gene with protein product Approved 5q32 05q32 "FLJ16069|SPG66" "arylsulfatase I|arylsulfatase family, member I" Sulfatases 410 2006-02-09 2015-11-18 2016-10-25 340075 ENSG00000183876 OTTHUMG00000163479 uc003lrv.3 AY875937 NM_001012301 CCDS34275 Q5FYB1 "16174644|24482476" MGI:2670959 RGD:1310242 610009 403370 3.1.6.- HGNC:32521 "ENST00000328668.8|NM_001012301.4" HGNC:32521 +HGNC:26286 ARSJ arylsulfatase family member J protein-coding gene gene with protein product Approved 4q26 04q26 FLJ23548 "arylsulfatase J|arylsulfatase family, member J" Sulfatases 410 2006-02-09 2015-11-18 2015-11-18 79642 ENSG00000180801 OTTHUMG00000161067 uc003ibq.2 NM_024590 CCDS43264 Q5FYB0 "12975309|16174644" MGI:2443513 RGD:1307640 610010 HGNC:26286 "ENST00000315366.8|NM_024590.4" +HGNC:25239 ARSK arylsulfatase family member K protein-coding gene gene with protein product Approved 5q15 05q15 "DKFZp313G1735|TSULF" "arylsulfatase K|arylsulfatase family, member K" Sulfatases 410 2006-02-09 2015-11-18 2016-06-28 153642 ENSG00000164291 OTTHUMG00000121166 uc003kld.4 NM_198150 CCDS4073 Q6UWY0 "12975309|16174644" MGI:1924291 RGD:1310182 610011 3.1.6.- HGNC:25239 "ENST00000380009.9|NM_198150.3" +HGNC:719 ARSL arylsulfatase L protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 chondrodysplasia punctata 1 "CDPX|CDPX1|ARSE" "arylsulfatase E (chondrodysplasia punctata 1)|arylsulfatase E" Sulfatases 410 1995-04-26 2019-08-07 2019-08-07 2021-05-26 415 ENSG00000157399 OTTHUMG00000137358 uc004crc.5 X83573 NM_000047 "CCDS75948|CCDS14122" P51690 7720070 RGD:1304917 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ARSE 300180 121431 HGNC:719 "ENST00000381134.9|NM_000047.3" HGNC:719 +HGNC:720 ARSLP1 arylsulfatase L pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 "ARSEP|ARSEP1" "arylsulfatase E pseudogene|arylsulfatase E pseudogene 1" 1999-05-17 2019-08-08 2019-08-08 2019-08-08 10033 ENSG00000224060 OTTHUMG00000036379 NG_000880 8845834 PGOHUM00000233954 HGNC:720 +HGNC:723 ART1 ADP-ribosyltransferase 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "ART2|CD296|ARTC1" "CD molecules|ADP-ribosyltransferase family" "471|2030" 1997-01-22 2020-09-17 417 ENSG00000129744 OTTHUMG00000011845 uc001lye.1 S74683 NM_004314 CCDS7744 P52961 8812442 MGI:107511 RGD:1304591 601625 CD296 HGNC:723 "ENST00000250693.2|NM_004314.3" +HGNC:51489 ART2BP ADP-ribosyltransferase 2B, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 ARTC2BP ADP-ribosyltransferase family 2030 2015-01-16 2022-01-28 106481723 ENSG00000237408 OTTHUMG00000154241 NG_043401 MGI:107545 HGNC:51489 +HGNC:724 ART2P ADP-ribosyltransferase 2, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 "ART1P|ARTC2AP" RT6 ADP-ribosyltransferase 2 pseudogene (RT6 antigen homolog, rat) ADP-ribosyltransferase family 2030 1993-06-08 2013-09-12 2022-01-28 418 ENSG00000238048 OTTHUMG00000154242 X65050 NG_001076 8812442 MGI:107546 PGOHUM00000291030 HGNC:724 +HGNC:725 ART3 ADP-ribosyltransferase 3 (inactive) protein-coding gene gene with protein product Approved 4q21.1 04q21.1 ARTC3 ADP-ribosyltransferase 3 ADP-ribosyltransferase family 2030 1998-05-11 2020-07-13 2022-04-01 419 ENSG00000156219 OTTHUMG00000130110 uc003hjn.4 X95827 NM_001179 "CCDS47079|CCDS47080|CCDS3575" Q13508 "9119374|12070318" MGI:1202729 RGD:628833 603086 HGNC:725 "ENST00000355810.9|NM_001130016.3" +HGNC:726 ART4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "DOK1|CD297|ARTC4" NAD(+)--protein-arginine ADP-ribosyltransferase 4 DO "Dombrock blood group|ADP-ribosyltransferase 4 (DO blood group)|ADP-ribosyltransferase 4|ADP-ribosyltransferase 4 (Dombrock blood group)" "Blood group antigens|CD molecules|ADP-ribosyltransferase family" "454|471|2030" 1998-05-11 2006-01-12 2020-07-13 2021-05-26 420 ENSG00000111339 OTTHUMG00000168738 uc001rcl.2 X95826 NM_021071 CCDS8668 Q93070 9119374 MGI:1202710 RGD:1306456 LRG_807|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_807.xml 110600 CD297 2.4.2.31 HGNC:726 "ENST00000228936.6|NM_021071.4" +HGNC:24049 ART5 ADP-ribosyltransferase 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 ARTC5 ADP-ribosyltransferase family 2030 2004-11-30 2020-07-01 116969 ENSG00000167311 OTTHUMG00000011842 uc001lyc.2 Y16835 NM_053017 "CCDS7743|CCDS73242" Q96L15 "11587854|10448534" MGI:107948 RGD:628834 610625 HGNC:24049 "ENST00000397068.8|NM_053017.5" +HGNC:727 ARTN artemin protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "NBN|EVN|ENOVIN" "neublastin|neurotrophic factor" GDNF family ligands 1586 1999-01-22 2020-09-17 9048 ENSG00000117407 OTTHUMG00000007705 uc001ckv.4 AF109401 NM_057090 "CCDS502|CCDS501" Q5T4W7 9883723 MGI:1333791 RGD:621427 603886 ligandId:4871 HGNC:727 "ENST00000372359.10|NM_057091.3" +HGNC:29561 ARV1 ARV1 homolog, fatty acid homeostasis modulator protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "ARV1 homolog (yeast)|ARV1 homolog (S. cerevisiae)" 2004-11-17 2015-09-25 2021-05-26 64801 ENSG00000173409 OTTHUMG00000037837 uc001huh.4 AF271780 NM_022786 CCDS1589 Q9H2C2 "11063737|12145310|20663892" MGI:1916115 RGD:1310264 611647 HGNC:29561 "ENST00000310256.7|NM_022786.3" HGNC:29561 +HGNC:728 ARVCF ARVCF delta catenin family member protein-coding gene gene with protein product Approved 22q11.21 22q11.21 armadillo repeat gene deleted in velocardiofacial syndrome "Armadillo repeat containing|Armadillo like helical domain containing|p120 catenin family" "409|1492|1539" 1996-10-11 2019-01-22 2020-09-17 421 ENSG00000099889 OTTHUMG00000030426 uc002zqz.4 NM_001670 CCDS13771 O00192 "9126485|15456900|24644279" MGI:109620 RGD:1306655 602269 121435 HGNC:728 "ENST00000263207.8|NM_001670.3" +HGNC:18060 ARX aristaless related homeobox protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 "ISSX|CT121|EIEE1" cancer/testis antigen 121 "MRXS1|PRTS|MRX76|MRX54|MRX43|MRX36|MRX29|MRX32|MRX33|MRX38|MRX87" "mental retardation, X-linked 54|mental retardation, X-linked 43|mental retardation, X-linked 36|mental retardation, X-linked 29|mental retardation, X-linked 32|mental retardation, X-linked 33|mental retardation, X-linked 38|mental retardation, X-linked 87|mental retardation, X-linked 76" PRD class homeoboxes and pseudogenes 521 2002-02-11 2021-05-26 170302 ENSG00000004848 OTTHUMG00000021275 uc004dbp.5 AY038071 NM_139058 CCDS14215 Q96QS3 "11889467|15850492|17480217" MGI:1097716 RGD:1562672 300382 8573 121437 HGNC:18060 "ENST00000379044.5|NM_139058.3" HGNC:18060 +HGNC:17452 AS3MT arsenite methyltransferase protein-coding gene gene with protein product Approved 10q24.32 10q24.32 CYT19 arsenic (+3 oxidation state) methyltransferase 7BS small molecule methyltransferases 2063 2004-06-25 2014-05-09 2016-10-05 57412 ENSG00000214435 OTTHUMG00000018972 uc001kwk.4 AF226730 NM_020682 CCDS41567 Q9HBK9 11790780 MGI:1929882 RGD:621325 611806 2.1.1.137 HGNC:17452 "ENST00000369880.8|NM_020682.4" +HGNC:735 ASAH1 N-acylsphingosine amidohydrolase 1 protein-coding gene gene with protein product Approved 8p22 08p22 "AC|PHP32|FLJ21558|ACDase" "acylsphingosine deacylase|acid ceramidase" ASAH N-acylsphingosine amidohydrolase (acid ceramidase) 1997-08-22 2002-09-13 2016-06-21 2021-05-26 427 ENSG00000104763 OTTHUMG00000096997 uc003wyl.3 U70063 NM_004315 "CCDS47813|CCDS87583|CCDS6006|CCDS6005" Q13510 "8955159|10610716" MGI:1277124 RGD:621568 613468 121449 C89.001 objectId:2491 3.5.1.23 HGNC:735 "ENST00000637790.2|NM_177924.5" HGNC:735 +HGNC:55603 ASAH1-AS1 ASAH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p22 08p22 Antisense RNAs 1987 2021-06-07 2021-06-07 101929066 ENSG00000245281 NR_125429 +HGNC:18860 ASAH2 N-acylsphingosine amidohydrolase 2 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "neutral ceramidase|non-lysosomal ceramidase" N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 2002-07-05 2016-06-21 2016-06-21 56624 ENSG00000188611 OTTHUMG00000018223 uc001jjd.4 AF250847 NM_019893 "CCDS7239|CCDS44398" Q9NR71 10781606 MGI:1859310 RGD:69410 611202 objectId:2492 HGNC:18860 "ENST00000682911.1|NM_019893.4" +HGNC:23456 ASAH2B N-acylsphingosine amidohydrolase 2B protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "bA449O16.3|ASAH2L|bA98I6.3" ASAH2C "N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C|N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B" 2004-06-25 2016-06-21 2020-04-20 653308 ENSG00000204147 OTTHUMG00000018239 uc001jjg.5 BI553338 NM_001079516 "CCDS81465|CCDS31203" P0C7U1 17334805 MGI:1859310 610987 objectId:2493 HGNC:23456 "ENST00000647317.2|NM_001321958.2" +HGNC:2720 ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 protein-coding gene gene with protein product Approved 8q24.21-q24.22 08q24.21-q24.22 "PAP|KIAA1249|ZG14P|CENTB4" centaurin, beta 4 DDEF1 development and differentiation enhancing factor 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 1999-08-13 2008-09-22 2008-09-22 2018-02-13 50807 ENSG00000153317 OTTHUMG00000164772 uc003yta.3 AB033075 NM_018482 "CCDS75788|CCDS6362" Q9ULH1 "9819391|25774636" MGI:1342335 RGD:1307379 605953 HGNC:2720 "ENST00000518721.6|NM_018482.4" +HGNC:24998 ASAP1-IT1 ASAP1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "HSPC054|NCRNA00050|ASAP1IT|ASAP1-IT" "non-protein coding RNA 50|ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 intronic transcript 1 (non-protein coding)" DDEF1IT1 "DDEF1 intronic transcript 1|DDEF1 intronic transcript 1 (non-protein coding)|ASAP1 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2005-09-05 2011-03-23 2015-02-25 2017-09-21 29065 AF161539 NR_002765 "11042152|27667152|28895409" ASAP1-IT1 HGNC:24998 +HGNC:48917 ASAP1-IT2 ASAP1 intronic transcript 2 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 ASAP1 intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2013-07-05 2015-02-25 2016-11-24 100507117 ENSG00000280543 OTTHUMG00000189586 NR_045385 ASAP1-IT2 HGNC:48917 +HGNC:2721 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "KIAA0400|PAP|SHAG1|CENTB3" centaurin, beta 3 DDEF2 development and differentiation enhancing factor 2 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 1999-08-13 2008-09-22 2008-09-22 2016-10-05 8853 ENSG00000151693 OTTHUMG00000117485 uc002qzh.3 AB007860 NM_003887 "CCDS46224|CCDS1661" O43150 "10022920|9455477" MGI:2685438 RGD:1305263 603817 HGNC:2721 "ENST00000281419.8|NM_003887.3" +HGNC:14987 ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "FLJ20199|UPLC1|CENTB6" centaurin, beta 6 DDEFL1 development and differentiation enhancing factor-like 1 "ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing" "395|403|1291" 2001-03-27 2008-09-22 2008-10-09 2016-10-05 55616 ENSG00000088280 OTTHUMG00000003234 uc001bha.3 AK000206 NM_017707 "CCDS44087|CCDS235" Q8TDY4 14654939 MGI:2684986 RGD:1593929 616594 HGNC:14987 "ENST00000336689.8|NM_017707.4" +HGNC:16011 ASB1 ankyrin repeat and SOCS box containing 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 ASB-1 ankyrin repeat and SOCS box-containing 1 Ankyrin repeat domain containing 403 2001-06-29 2011-01-25 2016-10-05 51665 ENSG00000065802 OTTHUMG00000152866 uc002vyg.4 AF156777 NM_001040445 "CCDS82582|CCDS33416" Q9Y576 MGI:1929735 RGD:1310760 605758 HGNC:16011 "ENST00000264607.9|NM_001040445.3" +HGNC:16012 ASB2 ankyrin repeat and SOCS box containing 2 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 ASB-2 ankyrin repeat and SOCS box-containing 2 "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2001-06-29 2011-01-25 2016-01-14 51676 ENSG00000100628 OTTHUMG00000171298 uc001ycc.3 AF159164 NM_001202429 "CCDS9915|CCDS55940" Q96Q27 MGI:1929743 RGD:1306414 605759 HGNC:16012 "ENST00000555019.6|NM_001202429.2" +HGNC:16013 ASB3 ankyrin repeat and SOCS box containing 3 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 ASB-3 ankyrin repeat and SOCS box-containing 3 Ankyrin repeat domain containing 403 2001-06-29 2011-01-25 2015-07-24 51130 ENSG00000115239 OTTHUMG00000184778 uc002rxg.3 AK000985 NM_016115 "CCDS1846|CCDS1847" Q9Y575 15899873 MGI:1929749 RGD:1308462 605760 HGNC:16013 "ENST00000263634.8|NM_016115.5" +HGNC:16009 ASB4 ankyrin repeat and SOCS box containing 4 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 ASB-4 ankyrin repeat and SOCS box-containing 4 Ankyrin repeat domain containing 403 2001-06-29 2011-01-25 2016-10-05 51666 ENSG00000005981 OTTHUMG00000153960 uc011kij.3 AF156779 NM_016116 "CCDS5641|CCDS5642" Q9Y574 MGI:1929751 RGD:1563114 605761 HGNC:16009 "ENST00000325885.6|NM_016116.3" +HGNC:17180 ASB5 ankyrin repeat and SOCS box containing 5 protein-coding gene gene with protein product Approved 4q34.2 04q34.2 ankyrin repeat and SOCS box-containing 5 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2016-10-05 140458 ENSG00000164122 OTTHUMG00000160793 uc003iuq.3 AY057053 NM_080874 CCDS3827 Q8WWX0 MGI:1923544 RGD:1565973 615050 HGNC:17180 "ENST00000296525.7|NM_080874.4" +HGNC:17181 ASB6 ankyrin repeat and SOCS box containing 6 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 ankyrin repeat and SOCS box-containing 6 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2016-10-05 140459 ENSG00000148331 OTTHUMG00000020787 uc004byf.3 NM_017873 "CCDS6924|CCDS75919|CCDS6925" Q9NWX5 MGI:1919573 RGD:1308445 615051 HGNC:17181 "ENST00000277458.5|NM_017873.4" +HGNC:17182 ASB7 ankyrin repeat and SOCS box containing 7 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 ankyrin repeat and SOCS box-containing 7 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2015-08-24 140460 ENSG00000183475 OTTHUMG00000149868 uc002bwk.4 NM_024708 "CCDS10388|CCDS10387" Q9H672 MGI:2152835 RGD:1305154 615052 HGNC:17182 "ENST00000332783.12|NM_198243.3" +HGNC:17183 ASB8 ankyrin repeat and SOCS box containing 8 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "MGC5540|FLJ21255" ankyrin repeat and SOCS box-containing 8 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2016-01-14 140461 ENSG00000177981 OTTHUMG00000167834 uc001rrh.4 AK024908 NM_001319296 "CCDS81686|CCDS8761" Q9H765 12076535 MGI:1925791 RGD:1309246 615053 HGNC:17183 "ENST00000317697.8|NM_024095.5" +HGNC:17184 ASB9 ankyrin repeat and SOCS box containing 9 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "DKFZP564L0862|MGC4954|FLJ20636" ankyrin repeat and SOCS box-containing 9 Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2020-04-02 140462 ENSG00000102048 OTTHUMG00000021172 uc004cwl.4 AK000643 NM_001031739 "CCDS35208|CCDS55372|CCDS14163" Q96DX5 12076535 MGI:1916549 RGD:1560537 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASB9 300890 HGNC:17184 "ENST00000380488.9|NM_001031739.3" +HGNC:20972 ASB9P1 ankyrin repeat and SOCS box containing 9 pseudogene 1 pseudogene pseudogene Approved 15q26.1 15q26.1 ankyrin repeat and SOCS box-containing 9 pseudogene 1 2010-08-18 2011-01-25 2012-10-03 728619 ENSG00000258527 OTTHUMG00000171749 NR_033769 PGOHUM00000259002 HGNC:20972 +HGNC:17185 ASB10 ankyrin repeat and SOCS box containing 10 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 GLC1F "ankyrin repeat and SOCS box-containing 10|glaucoma 1, open angle, F (adult-onset)" Ankyrin repeat domain containing 403 2001-12-05 2011-01-25 2016-10-05 136371 ENSG00000146926 OTTHUMG00000157013 uc003wjm.2 AK055536 NM_080871 "CCDS47750|CCDS47749|CCDS5921" Q8WXI3 22156576 MGI:2152836 RGD:1562922 615054 358407 HGNC:17185 "ENST00000420175.3|NM_001142459.2" +HGNC:17186 ASB11 ankyrin repeat and SOCS box containing 11 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 DKFZp779E2460 Ankyrin repeat domain containing 403 2004-05-27 2015-12-15 2020-04-02 140456 ENSG00000165192 OTTHUMG00000021173 uc004cwp.3 AF425642 NM_001012428 "CCDS14164|CCDS56596|CCDS35209" Q8WXH4 24337577 MGI:1916104 RGD:1566298 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASB11 300626 HGNC:17186 "ENST00000480796.6|NM_080873.3" +HGNC:19763 ASB12 ankyrin repeat and SOCS box containing 12 protein-coding gene gene with protein product Approved Xq11.2 Xq11.2 FLJ39577 ankyrin repeat and SOCS box-containing 12 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2020-04-02 142689 ENSG00000198881 OTTHUMG00000021705 uc004dvr.3 AF403030 NM_130388 CCDS14378 Q8WXK4 12076535 MGI:1917642 RGD:1561142 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASB12 300891 HGNC:19763 "ENST00000362002.3|NM_130388.4" +HGNC:19765 ASB13 ankyrin repeat and SOCS box containing 13 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "FLJ13134|MGC19879" ankyrin repeat and SOCS box-containing 13 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2015-08-24 79754 ENSG00000196372 OTTHUMG00000017603 uc001iig.3 AK091935 NM_024701 CCDS7070 Q8WXK3 12076535 MGI:2145525 RGD:1310387 615055 HGNC:19765 "ENST00000357700.11|NM_024701.4" +HGNC:19766 ASB14 ankyrin repeat and SOCS box containing 14 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 DKFZp313L0121 ankyrin repeat and SOCS box-containing 14 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2016-10-05 142686 ENSG00000239388 OTTHUMG00000158602 uc062kwt.1 AF403032 NM_001142733 CCDS46856 A6NK59 12076535 MGI:2655107 RGD:1596812 HGNC:19766 "ENST00000487349.6|NM_001142733.3" +HGNC:19767 ASB15 ankyrin repeat and SOCS box containing 15 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 FLJ43370 ankyrin repeat and SOCS box-containing 15 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2016-10-05 142685 ENSG00000146809 OTTHUMG00000157114 uc003vkv.2 AF403033 NM_001290258 CCDS34742 Q8WXK1 12076535 MGI:1926160 RGD:727860 619757 HGNC:19767 "ENST00000451215.6|NM_001290258.2" +HGNC:40904 ASB15-AS1 ASB15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.32 07q31.32 Antisense RNAs 1987 2019-07-24 2019-07-24 102724555 ENSG00000230442 OTTHUMG00000157115 NR_111922 HGNC:40904 +HGNC:19768 ASB16 ankyrin repeat and SOCS box containing 16 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ30165 ankyrin repeat and SOCS box-containing 16 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2013-01-10 92591 ENSG00000161664 OTTHUMG00000181809 uc002ifl.1 AK054727 NM_080863 CCDS11478 Q96NS5 12076535 MGI:2654437 RGD:1563878 615056 HGNC:19768 "ENST00000293414.6|NM_080863.5" +HGNC:25442 ASB16-AS1 ASB16 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 DKFZp762C2414 C17orf65 chromosome 17 open reading frame 65 Antisense RNAs 1987 2005-12-16 2012-10-11 2012-10-11 2020-04-01 339201 ENSG00000267080 OTTHUMG00000181810 uc002ifn.5 AL833953 NR_049729 Q495Z4 32214826 ASB16-AS1 HGNC:25442 +HGNC:19769 ASB17 ankyrin repeat and SOCS box containing 17 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 ankyrin repeat and SOCS box-containing 17 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2016-10-05 127247 ENSG00000154007 OTTHUMG00000009787 uc001dhe.2 AF403035 NM_080868 CCDS671 Q8WXJ9 12076535 MGI:1914022 RGD:1586533 HGNC:19769 "ENST00000284142.7|NM_080868.3" HGNC:19769 +HGNC:19770 ASB18 ankyrin repeat and SOCS box containing 18 protein-coding gene gene with protein product Approved 2q37.2 02q37.2 ankyrin repeat and SOCS box-containing 18 Ankyrin repeat domain containing 403 2002-12-03 2011-01-25 2014-11-19 401036 ENSG00000182177 OTTHUMG00000153086 uc010znh.2 AK123854 NM_212556 CCDS46548 Q6ZVZ8 12076535 MGI:2655109 RGD:1310850 HGNC:19770 "ENST00000409749.8|NM_212556.4" +HGNC:24268 ASCC1 activating signal cointegrator 1 complex subunit 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "CGI-18|ASC1p50|Em:AC022392.3|p50" Activating signal cointegrator 1 complex 1916 2004-03-17 2021-05-26 51008 ENSG00000138303 OTTHUMG00000018434 uc021pso.1 AY013290 NM_015947 "CCDS55713|CCDS31219" Q8N9N2 "10810093|12077347" MGI:1916340 RGD:1359255 614215 297627 HGNC:24268 "ENST00000672957.1|NM_001198800.3" HGNC:24268 +HGNC:24103 ASCC2 activating signal cointegrator 1 complex subunit 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "ASC1p100|FLJ21588|DKFZp586O0223" ASC 1 complex subunit P100 Activating signal cointegrator 1 complex 1916 2004-07-27 2016-10-05 84164 ENSG00000100325 OTTHUMG00000067658 uc003agr.4 AY013289 NM_032204 "CCDS56226|CCDS13869" Q9H1I8 "12077347|9847074" MGI:1922702 RGD:1561422 614216 HGNC:24103 "ENST00000307790.8|NM_032204.5" +HGNC:18697 ASCC3 activating signal cointegrator 1 complex subunit 3 protein-coding gene gene with protein product Approved 6q16.3 06q16.3 "RNAH|ASC1p200|dJ121G13.4|dJ467N11.1" RNA helicase family HELIC1 helicase, ATP binding 1 "DNA helicases|RNA helicases|Activating signal cointegrator 1 complex" "1167|1168|1916" 2003-11-26 2004-07-28 2021-05-26 10973 ENSG00000112249 OTTHUMG00000015279 uc003pqk.5 AJ223948 NM_006828 "CCDS5046|CCDS5047|CCDS75497" Q8N3C0 10218103 MGI:1925237 RGD:1307995 614217 HGNC:18697 "ENST00000369162.7|NM_006828.4" HGNC:18697 +HGNC:738 ASCL1 achaete-scute family bHLH transcription factor 1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "ASH1|HASH1|bHLHa46" "achaete-scute complex (Drosophila) homolog-like 1|achaete-scute complex-like 1 (Drosophila)|achaete-scute complex homolog 1 (Drosophila)" Basic helix-loop-helix proteins 420 1993-12-09 2013-10-17 2021-05-26 429 ENSG00000139352 OTTHUMG00000169967 uc001tjr.5 L08424 NM_004316 CCDS31886 P50553 8390674 MGI:96919 RGD:71010 100790 159769 HGNC:738 "ENST00000266744.4|NM_004316.4" HGNC:738 +HGNC:739 ASCL2 achaete-scute family bHLH transcription factor 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "ASH2|HASH2|bHLHa45" "achaete-scute complex (Drosophila) homolog-like 2|achaete-scute complex-like 2 (Drosophila)|achaete-scute complex homolog 2 (Drosophila)" Basic helix-loop-helix proteins 420 1996-04-12 2013-10-17 2020-09-17 430 ENSG00000183734 OTTHUMG00000009648 uc001lvu.4 NM_005170 CCDS7732 Q99929 9175731 MGI:96920 RGD:2159 601886 HGNC:739 "ENST00000331289.5|NM_005170.3" +HGNC:740 ASCL3 achaete-scute family bHLH transcription factor 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "bHLHa42|HASH3|Sgn1" "achaete-scute complex (Drosophila) homolog-like 3|achaete-scute complex homolog 3 (Drosophila)" Basic helix-loop-helix proteins 420 2000-07-31 2013-10-17 2020-09-17 56676 ENSG00000176009 OTTHUMG00000165679 uc057yvn.1 AJ400877 NM_020646 CCDS7795 Q9NQ33 11528127 MGI:1928820 RGD:621631 609154 HGNC:740 "ENST00000531618.2|NM_020646.3" +HGNC:24311 ASCL4 achaete-scute family bHLH transcription factor 4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "HASH4|bHLHa44" "achaete-scute complex-like 4 (Drosophila)|achaete-scute complex homolog 4 (Drosophila)" Basic helix-loop-helix proteins 420 2004-05-21 2013-10-17 2016-10-05 121549 ENSG00000187855 OTTHUMG00000156964 uc001tmr.3 AY238895 NM_203436 CCDS31894 Q6XD76 MGI:1914591 RGD:1307533 609155 HGNC:24311 "ENST00000342331.5|NM_203436.3" +HGNC:33169 ASCL5 achaete-scute family bHLH transcription factor 5 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 bHLHa47 achaete-scute complex homolog 5 (Drosophila) Basic helix-loop-helix proteins 420 2006-11-08 2013-10-17 2016-10-19 647219 ENSG00000232237 OTTHUMG00000057661 uc057ogk.1 NM_001270601 CCDS59202 Q7RTU5 MGI:2685043 RGD:1561854 HGNC:33169 "ENST00000449188.3|NM_001270601.2" +HGNC:53619 ASDURF ASNSD1 upstream open reading frame protein-coding gene gene with protein product Approved 2q32 02q32 ASNSD1 upstream reading frame 2017-07-21 2021-03-11 2021-03-11 110599588 ENSG00000286053 NM_001353493 "CCDS86902|CCDS86901" L0R819 23160002 619740 HGNC:53619 "ENST00000607829.6|NM_001353493.2" +HGNC:20995 ASF1A anti-silencing function 1A histone chaperone protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "DKFZP547E2110|CIA" ASF1 anti-silencing function 1 homolog A (S. cerevisiae) 2003-05-01 2013-05-01 2015-09-11 25842 ENSG00000111875 OTTHUMG00000015470 uc011ebn.3 AF279306 NM_014034 CCDS47469 Q9Y294 "10810093|11042152" MGI:1913653 RGD:1311941 609189 HGNC:20995 "ENST00000229595.6|NM_014034.3" +HGNC:20996 ASF1B anti-silencing function 1B histone chaperone protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ10604 ASF1 anti-silencing function 1 homolog B (S. cerevisiae) 2003-05-01 2013-05-01 2015-09-11 55723 ENSG00000105011 OTTHUMG00000150401 uc002mye.4 AF279307 NM_018154 CCDS12306 Q9NVP2 "11897662|11470414" MGI:1914179 RGD:1304918 609190 HGNC:20996 "ENST00000263382.8|NM_018154.3" +HGNC:742 ASGR1 asialoglycoprotein receptor 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 CLEC4H1 C-type lectin domain containing 1298 1988-05-24 2020-09-17 432 ENSG00000141505 OTTHUMG00000102159 uc002ges.5 NM_001671 "CCDS11089|CCDS56017" P07306 MGI:88081 RGD:2160 108360 HGNC:742 "ENST00000269299.8|NM_001671.5" +HGNC:743 ASGR2 asialoglycoprotein receptor 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 CLEC4H2 C-type lectin domain containing 1298 1988-05-24 2020-09-17 433 ENSG00000161944 OTTHUMG00000102158 uc002geq.4 M11025 NM_080914 "CCDS32544|CCDS11088|CCDS45598" P07307 3863106 MGI:88082 RGD:2161 108361 HGNC:743 "ENST00000691900.1|NM_001201352.2" +HGNC:19088 ASH1L ASH1 like histone lysine methyltransferase protein-coding gene gene with protein product Approved 1q22 01q22 "huASH1|ASH1|ASH1L1|KMT2H" ash1 (absent, small, or homeotic)-like (Drosophila) "PHD finger proteins|Lysine methyltransferases|Bromodomain containing|SET domain containing|MicroRNA protein coding host genes" "88|487|1232|1399|1691" 2003-08-06 2016-05-04 2016-05-04 55870 ENSG00000116539 OTTHUMG00000014011 uc001fkt.4 AB037841 NM_018489 CCDS1113 Q9NR48 "10860993|16545939" MGI:2183158 RGD:1306350 607999 objectId:2648 HGNC:19088 "ENST00000392403.8|NM_018489.3" HGNC:19088 +HGNC:44146 ASH1L-AS1 ASH1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q22 01q22 APPLE ASH1L antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2021-09-28 645676 ENSG00000235919 OTTHUMG00000014012 uc057lqr.1 BC017347 NR_027023 34555354 ASH1L-AS1 HGNC:44146 +HGNC:41449 ASH1L-IT1 ASH1L intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q22 01q22 ASH1L intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 106478976 ENSG00000227773 OTTHUMG00000014015 uc057lqo.1 ASH1L-IT1 +HGNC:744 ASH2L ASH2 like, histone lysine methyltransferase complex subunit protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "ASH2L2|ASH2|Bre2" ASH2L1 "ash2 (absent, small, or homeotic)-like (Drosophila)|ASH2 like histone lysine methyltransferase complex subunit" "PHD finger proteins|WRAD complex" "88|1558" 1998-12-03 2018-04-23 2020-09-17 9070 ENSG00000129691 OTTHUMG00000164016 uc003xkt.6 AF056717 NM_004674 "CCDS59100|CCDS47840|CCDS6101|CCDS64872" Q9UBL3 "10393421|21660059" MGI:1344416 RGD:1305632 604782 HGNC:744 "ENST00000343823.11|NM_004674.5" +HGNC:19332 ASH2LP1 ASH2L pseudogene 1 pseudogene pseudogene Approved 22q11.22 22q11.22 "ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1|ASH2 like histone lysine methyltransferase complex subunit pseudogene 1" 2002-10-03 2018-04-23 2018-04-23 266703 ENSG00000224144 OTTHUMG00000151071 NG_002378 PGOHUM00000297679 HGNC:19332 +HGNC:53059 ASH2LP2 ASH2L pseudogene 2 pseudogene pseudogene Approved 22q11.22 22q11.22 ASH2 like histone lysine methyltransferase complex subunit pseudogene 2 2017-01-12 2018-04-23 2018-04-23 100422088 ENSG00000237428 OTTHUMG00000151052 NG_000002 PGOHUM00000297675 HGNC:53059 +HGNC:53060 ASH2LP3 ASH2L pseudogene 3 pseudogene pseudogene Approved 22q11.22 22q11.22 ASH2 like histone lysine methyltransferase complex subunit pseudogene 3 2017-01-12 2018-04-23 2018-04-23 100736411 ENSG00000225724 OTTHUMG00000151037 NG_030227 PGOHUM00000297673 HGNC:53060 +HGNC:100 ASIC1 acid sensing ion channel subunit 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "BNaC2|hBNaC2" ACCN2 "amiloride-sensitive cation channel 2, neuronal|acid-sensing (proton-gated) ion channel 1|acid sensing (proton gated) ion channel 1" Acid sensing ion channel subunits 290 1997-09-05 2012-02-22 2015-12-14 2020-09-17 41 ENSG00000110881 OTTHUMG00000169812 uc001rvw.5 U78181 NM_020039 "CCDS8796|CCDS58228|CCDS44876" P78348 9037075 MGI:1194915 RGD:71062 602866 objectId:684 HGNC:100 "ENST00000447966.7|NM_001095.4" +HGNC:99 ASIC2 acid sensing ion channel subunit 2 protein-coding gene gene with protein product Approved 17q11.2-q12 17q11.2-q12 "ASIC2a|BNC1|BNaC1|hBNaC1|MDEG" degenerin "ACCN|ACCN1" "amiloride-sensitive cation channel 1, neuronal|acid-sensing (proton-gated) ion channel 2" Acid sensing ion channel subunits 290 1997-05-22 2012-02-22 2015-12-14 2020-09-17 40 ENSG00000108684 OTTHUMG00000132885 uc002hhu.4 AL834182 "NM_183377|NM_001094" "CCDS11276|CCDS42296" Q16515 8921408 MGI:1100867 RGD:2017 601784 objectId:685 HGNC:99 "ENST00000225823.7|NM_183377.2" +HGNC:101 ASIC3 acid sensing ion channel subunit 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "TNaC1|DRASIC" testis sodium channel 1 ACCN3 "amiloride-sensitive cation channel 3, testis|acid-sensing (proton-gated) ion channel 3" Acid sensing ion channel subunits 290 1999-05-04 2012-02-22 2015-12-14 2020-09-17 9311 ENSG00000213199 OTTHUMG00000158685 uc003wio.4 AB010575 NM_004769 "CCDS5916|CCDS5915|CCDS5914" Q9UHC3 "9571199|9744806" MGI:2159339 RGD:708578 611741 objectId:686 HGNC:101 "ENST00000349064.10|NM_004769.4" +HGNC:21263 ASIC4 acid sensing ion channel subunit family member 4 protein-coding gene gene with protein product Approved 2q35 02q35 BNAC4 ACCN4 "amiloride-sensitive cation channel 4, pituitary|acid-sensing (proton-gated) ion channel family member 4|acid sensing ion channel family member 4" Acid sensing ion channel subunits 290 2003-06-05 2012-02-22 2015-12-14 2016-10-05 55515 ENSG00000072182 OTTHUMG00000058928 uc061syq.1 AJ271643 NM_018674 "CCDS2442|CCDS33384" Q96FT7 10852210 MGI:2652846 RGD:621068 606715 HGNC:21263 "ENST00000358078.5|NM_018674.6" +HGNC:40960 ASIC4-AS1 ASIC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2019-07-24 2019-07-24 105373885 ENSG00000227432 OTTHUMG00000133672 XR_923921 HGNC:40960 +HGNC:17537 ASIC5 acid sensing ion channel subunit family member 5 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "INAC|HINAC" ACCN5 "amiloride-sensitive cation channel 5, intestinal|acid-sensing (proton-gated) ion channel family member 5" Acid sensing ion channel subunits 290 2003-06-05 2012-03-02 2015-12-14 2015-12-14 51802 ENSG00000256394 OTTHUMG00000161941 uc003ipe.1 AJ252011 NM_017419 CCDS3793 Q9NY37 10767424 MGI:1929259 RGD:69295 616693 HGNC:17537 "ENST00000537611.3|NM_017419.3" +HGNC:745 ASIP agouti signaling protein protein-coding gene gene with protein product Approved 20q11.22 20q11.22 ASP nonagouti homolog (mouse) AGTIL "agouti (mouse)-signaling protein|agouti signaling protein, nonagouti homolog (mouse)" 1995-01-03 2010-06-24 2020-09-17 434 ENSG00000101440 OTTHUMG00000032289 uc061wig.1 NM_001385218 CCDS13232 P42127 "7937887|7757071" MGI:87853 RGD:2003 600201 ligandId:3609 HGNC:745 "ENST00000374954.4|NM_001672.3" +HGNC:746 ASL argininosuccinate lyase protein-coding gene gene with protein product Approved 7q11.21 07q11.21 ASAL 2001-06-22 2021-05-26 435 ENSG00000126522 OTTHUMG00000022876 uc003tuo.4 NM_000048 "CCDS5531|CCDS47598|CCDS47597" P04424 MGI:88084 RGD:619974 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASL 608310 121455 4.3.2.1 HGNC:746 "ENST00000304874.14|NM_000048.4" HGNC:746 +HGNC:747 ASLP1 argininosuccinate lyase pseudogene 1 pseudogene pseudogene Approved 22q11.23 22q11.23 ASLL argininosuccinate lyase-like 1986-01-01 2010-09-30 2010-09-30 2010-09-30 436 ENSG00000244723 OTTHUMG00000150707 NG_002637 PGOHUM00000250321 HGNC:747 +HGNC:750 ASMT acetylserotonin O-methyltransferase protein-coding gene gene with protein product Approved Xp22.3 and Yp11.3 Xp22.3 and Yp11.3 "HIOMT|ASMTY|HIOMTY" "Pseudoautosomal region 1|7BS small molecule methyltransferases" "715|2063" 1992-12-11 2020-09-17 438 ENSG00000196433 OTTHUMG00000021065 uc065cod.1 M83779 NM_004043 "CCDS55364|CCDS14117" P46597 "8397829|7989373" MGI:96090 RGD:708472 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASMT "300015|402500" 469966 2.1.1.4 HGNC:750 "ENST00000381241.9|NM_001171038.2" +HGNC:751 ASMTL acetylserotonin O-methyltransferase like protein-coding gene gene with protein product Approved Xp22.3 and Yp11.3 Xp22.3 and Yp11.3 "Pseudoautosomal region 1|7BS small molecule methyltransferases" "715|2063" 1999-05-07 2017-02-20 2020-09-17 8623 ENSG00000169093 OTTHUMG00000021057 uc004fpk.3 Y15521 NM_004192 "CCDS43917|CCDS55362|CCDS55363" O95671 9736779 RGD:1306877 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASMTL "300162|400011" HGNC:751 "ENST00000381317.9|NM_004192.4" +HGNC:25811 ASMTL-AS1 ASMTL antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 FLJ13330 "CXYorf2|NCRNA00105|ASMTLAS|ASMTL-AS" "chromosome X and Y open reading frame 2|non-protein coding RNA 105|ASMTL antisense RNA (non-protein coding)|ASMTL antisense RNA 1 (non-protein coding)" "Pseudoautosomal region 1|Antisense RNAs" "715|1987" 2004-06-16 2010-11-25 2012-08-15 2020-04-02 80161 ENSG00000236017 OTTHUMG00000021056 uc065cnu.1 AK023392 XR_040863 14702039 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASMTL-AS1 HGNC:25811 +HGNC:753 ASNS asparagine synthetase (glutamine-hydrolyzing) protein-coding gene gene with protein product Approved 7q21.3 07q21.3 asparagine synthetase 2001-06-22 2019-07-03 2021-05-26 440 ENSG00000070669 OTTHUMG00000022892 uc003uou.5 M27396 "NM_001673|NM_183356" "CCDS5652|CCDS55132|CCDS55131" P08243 7904551 MGI:1350929 RGD:2162 108370 394593 C44.974 6.3.5.4 HGNC:753 "ENST00000394308.8|NM_001673.5" HGNC:753 +HGNC:24910 ASNSD1 asparagine synthetase domain containing 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "NS3TP1|FLJ20752|NBLA00058" 2006-02-13 2015-08-28 54529 ENSG00000138381 OTTHUMG00000132665 uc002uqt.4 AY116969 NM_019048 CCDS2300 Q9NWL6 MGI:1917646 RGD:1306332 619739 HGNC:24910 "ENST00000260952.9|NM_019048.4" +HGNC:754 ASNSP1 ASNS pseudogene 1 pseudogene pseudogene Approved 8q11.1 08q11.1 ASNSL1 "asparagine synthetase-like 1|asparagine synthetase pseudogene 1" 1989-05-25 2010-03-17 2021-06-11 2021-06-11 389652 ENSG00000248498 OTTHUMG00000165535 NR_146077 PGOHUM00000249318 HGNC:754 +HGNC:755 ASNSP2 ASNS pseudogene 2 pseudogene pseudogene Approved 21p11.2 21p11.2 ASNSL2 "asparagine synthetase-like 2|asparagine synthetase pseudogene 2" 1989-05-25 2010-03-17 2021-06-11 2021-06-11 442 NG_029775 PGOHUM00000239104 HGNC:755 +HGNC:39399 ASNSP3 ASNS pseudogene 3 pseudogene pseudogene Approved 13q32.3 13q32.3 asparagine synthetase pseudogene 3 2010-12-03 2021-06-11 2021-06-11 100423061 ENSG00000236554 OTTHUMG00000017282 NG_021205 PGOHUM00000248482 HGNC:39399 +HGNC:39400 ASNSP4 ASNS pseudogene 4 pseudogene pseudogene Approved 8q11.1 08q11.1 asparagine synthetase pseudogene 4 2010-12-03 2021-06-11 2021-06-11 100419423 ENSG00000251470 OTTHUMG00000160508 NG_026098 PGOHUM00000249646 HGNC:39400 +HGNC:39401 ASNSP5 ASNS pseudogene 5 pseudogene pseudogene Approved unplaced unplaced asparagine synthetase pseudogene 5 2010-12-03 2021-06-11 2021-06-11 100873794 NG_032287 PGOHUM00000244888 +HGNC:49876 ASNSP6 ASNS pseudogene 6 pseudogene pseudogene Approved 18p11.21 18p11.21 asparagine synthetase (glutamine-hydrolyzing) pseudogene 6 2014-03-18 2021-06-11 2021-06-11 100423060 ENSG00000267333 OTTHUMG00000180610 NG_033866 PGOHUM00000234995 HGNC:49876 +HGNC:756 ASPA aspartoacylase protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "ASP|ACY2" "aminoacylase 2|Canavan disease" aspartoacylase (aminoacylase 2, Canavan disease) 1993-12-09 2010-06-24 2020-09-17 443 ENSG00000108381 OTTHUMG00000090655 uc002fvq.4 S67156 NM_000049 CCDS11028 P45381 8252036 MGI:87914 RGD:621693 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASPA 608034 121457 3.5.1.15 HGNC:756 "ENST00000263080.3|NM_000049.4" HGNC:756 +HGNC:33856 ASPDH aspartate dehydrogenase domain containing protein-coding gene gene with protein product Approved 19q13.33 19q13.33 2009-01-15 2012-10-02 554235 ENSG00000204653 OTTHUMG00000183057 uc010enz.4 NM_001024656 "CCDS46153|CCDS33082" A6ND91 MGI:1915602 RGD:1310111 HGNC:33856 "ENST00000389208.9|NM_001114598.2" +HGNC:20123 ASPG asparaginase protein-coding gene gene with protein product Approved 14q32.33 14q32.33 60-kDa-lysophospholipase C14orf76 "chromosome 14 open reading frame 76|asparaginase homolog (S. cerevisiae)" Ankyrin repeat domain containing 403 2002-12-18 2008-11-06 2014-03-14 2020-04-20 374569 ENSG00000166183 OTTHUMG00000170045 uc001yoq.3 NM_001080464 CCDS45170 Q86U10 MGI:2144822 RGD:708388 618472 objectId:2762 "3.1.1.5|3.5.1.1" HGNC:20123 "ENST00000551177.6|NM_001080464.3" +HGNC:757 ASPH aspartate beta-hydroxylase protein-coding gene gene with protein product Approved 8q12.3 08q12.3 "CASQ2BP1|BAH|JCTN|HAAH" "junctin|humbug|junctate" 1995-06-13 2021-05-26 444 ENSG00000198363 OTTHUMG00000164375 uc003xuj.4 AF224468 NM_004318 "CCDS75746|CCDS47866|CCDS34900|CCDS34899|CCDS43742|CCDS55234|CCDS34898|CCDS55238|CCDS55236|CCDS55235|CCDS55237" Q12797 "7821814|10974562" MGI:1914186 RGD:1312000 600582 422966 1.14.11.16 HGNC:757 "ENST00000379454.9|NM_004318.4" HGNC:757 +HGNC:27380 ASPHD1 aspartate beta-hydroxylase domain containing 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2006-01-31 2015-09-07 253982 ENSG00000174939 OTTHUMG00000132121 uc002dut.4 AF070642 NM_181718 CCDS10660 Q5U4P2 MGI:2685014 RGD:1306636 HGNC:27380 "ENST00000308748.10|NM_181718.4" +HGNC:30437 ASPHD2 aspartate beta-hydroxylase domain containing 2 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 FLJ39838 2006-01-31 2014-11-19 57168 ENSG00000128203 OTTHUMG00000150884 uc003acg.3 AK097157 NM_020437 CCDS13834 Q6ICH7 MGI:1920148 RGD:1306020 HGNC:30437 "ENST00000215906.6|NM_020437.5" +HGNC:19048 ASPM assembly factor for spindle microtubules protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "Calmbp1|ASP|FLJ10517|FLJ10549" MCPH5 "microcephaly, primary autosomal recessive 5|asp (abnormal spindle)-like, microcephaly associated (Drosophila)|asp (abnormal spindle) homolog, microcephaly associated (Drosophila)|abnormal spindle microtubule assembly" 2002-08-13 2019-12-20 2021-05-26 259266 ENSG00000066279 OTTHUMG00000036277 uc001gtu.4 AY367065 NM_018136 "CCDS55672|CCDS1389" Q8IZT6 11078481 MGI:1334448 RGD:1307111 605481 121461 HGNC:19048 "ENST00000367409.9|NM_018136.5" HGNC:19048 +HGNC:14872 ASPN asporin protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "FLJ20129|SLRR1C|PLAP-1" asporin proteoglycan asporin (LRR class 1) Small leucine rich repeat proteoglycans 573 2001-03-21 2007-02-15 2017-07-14 54829 ENSG00000106819 OTTHUMG00000020227 uc004ase.3 AF316824 NM_017680 Q9BXN1 11152692 MGI:1913945 RGD:1549776 608135 HGNC:14872 +HGNC:26321 ASPRV1 aspartic peptidase retroviral like 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "Taps|SASPase|FLJ25084" Skin ASpartic Protease "Gag like LTR retrotransposon derived genes|Peptidase family A28 " "1411|2098" 2008-02-20 2017-06-13 2017-06-13 151516 ENSG00000244617 OTTHUMG00000129647 uc002sfz.6 AK055994 NM_152792 CCDS1897 Q53RT3 "16098038|16565508" MGI:1915105 RGD:1560859 611765 A28.004 HGNC:26321 "ENST00000320256.6|NM_152792.4" HGNC:26321 +HGNC:13825 ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "ASPS|ASPL|UBXD9|UBXN9|TUG" "UBX domain protein 9|Tether containing UBX domain for GLUT4" "alveolar soft part sarcoma chromosome region, candidate 1|ASPSCR1, UBX domain containing tether for SLC2A4" UBX domain containing 364 2001-04-05 2019-01-25 2019-01-25 79058 ENSG00000169696 OTTHUMG00000178438 uc002kcx.3 AF324219 NM_024083 "CCDS58611|CCDS11796|CCDS82222" Q9BZE9 "11244503|10506710" MGI:1916188 RGD:1588666 ASPSCR1 606236 168413 HGNC:13825 "ENST00000306739.9|NM_024083.4" +HGNC:16448 ASRGL1 asparaginase and isoaspartyl peptidase 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FLJ22316|ALP1|ALP" asparaginase-like 1 protein asparaginase like 1 2001-08-29 2019-06-21 2021-05-26 80150 ENSG00000162174 OTTHUMG00000167513 uc001ntf.5 NM_001083926 CCDS8019 Q7L266 "11984834|28671681|27106100" MGI:1913764 RGD:708526 609212 3.5.1.1 HGNC:16448 "ENST00000415229.6|NM_001083926.2" HGNC:16448 +HGNC:758 ASS1 argininosuccinate synthase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 CTLN1 ASS argininosuccinate synthetase 2001-06-22 2006-08-24 2010-04-20 2020-09-17 445 ENSG00000130707 OTTHUMG00000020806 uc004bzn.4 X01630 NM_000050 CCDS6933 P00966 "3513483|852520" MGI:88090 RGD:2163 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ASS1|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ASS1" 603470 121468 6.3.4.5 HGNC:758 "ENST00000352480.10|NM_054012.4" HGNC:758 +HGNC:759 ASS1P1 argininosuccinate synthetase 1 pseudogene 1 pseudogene pseudogene Approved 6p22.3 06p22.3 ASSP1 argininosuccinate synthetase pseudogene 1 1986-01-01 2010-01-08 2010-01-08 2014-11-19 442167 ENSG00000220517 OTTHUMG00000014378 K01845 NG_001077 "6093508|1440058" PGOHUM00000243077 HGNC:759 +HGNC:765 ASS1P2 argininosuccinate synthetase 1 pseudogene 2 pseudogene pseudogene Approved 2p22.1 02p22.1 ASSP2 argininosuccinate synthetase pseudogene 2 2001-06-22 2010-01-08 2010-01-08 2014-11-19 447 ENSG00000223922 OTTHUMG00000153539 NG_000845 6093508 PGOHUM00000240018 HGNC:765 +HGNC:766 ASS1P3 argininosuccinate synthetase 1 pseudogene 3 pseudogene pseudogene Approved 9q21.2 09q21.2 ASSP3 argininosuccinate synthetase pseudogene 3 2001-06-22 2010-01-08 2010-01-08 2020-04-07 158452 ENSG00000233947 OTTHUMG00000020064 NG_012998 6093508 PGOHUM00000304336 HGNC:766 +HGNC:767 ASS1P4 argininosuccinate synthetase 1 pseudogene 4 pseudogene pseudogene Approved Xp22.33 Xp22.33 ASSP4 argininosuccinate synthetase pseudogene 4 2001-06-22 2010-01-08 2010-01-08 2014-11-19 449 ENSG00000213487 OTTHUMG00000021084 NG_000846 6093508 PGOHUM00000241628 HGNC:767 +HGNC:768 ASS1P5 argininosuccinate synthetase 1 pseudogene 5 pseudogene pseudogene Approved Xq23 Xq23 ASSP5 argininosuccinate synthetase pseudogene 5 2001-06-22 2010-01-08 2010-01-08 2014-11-19 450 ENSG00000227881 OTTHUMG00000022236 NG_000847 6093508 PGOHUM00000241961 HGNC:768 +HGNC:769 ASS1P6 argininosuccinate synthetase 1 pseudogene 6 pseudogene pseudogene Approved Yq11.21 Yq11.21 ASSP6 argininosuccinate synthetase pseudogene 6 2001-06-22 2010-01-08 2010-01-08 2014-11-19 451 ENSG00000215583 OTTHUMG00000036286 NG_000848 6093508 PGOHUM00000233744 HGNC:769 +HGNC:770 ASS1P7 argininosuccinate synthetase 1 pseudogene 7 pseudogene pseudogene Approved 3q26.32 03q26.32 ASSP7 argininosuccinate synthetase pseudogene 7 2001-06-22 2010-01-08 2010-01-08 2014-11-19 339845 ENSG00000236893 OTTHUMG00000157232 NG_001079 6093508 PGOHUM00000237873 HGNC:770 +HGNC:771 ASS1P8 argininosuccinate synthetase 1 pseudogene 8 pseudogene pseudogene Approved 4q31.23 04q31.23 ASSP8 argininosuccinate synthetase pseudogene 8 2001-06-22 2010-01-08 2010-01-08 2016-10-05 453 ENSG00000251418 OTTHUMG00000161456 NG_003009 "6093508|2435915" PGOHUM00000300029 HGNC:771 +HGNC:772 ASS1P9 argininosuccinate synthetase 1 pseudogene 9 pseudogene pseudogene Approved 5q11.2 05q11.2 ASSP9 argininosuccinate synthetase pseudogene 9 2001-06-22 2010-01-08 2010-01-08 2014-11-19 454 ENSG00000217791 OTTHUMG00000162285 NG_003022 "6093508|2435915" PGOHUM00000235588 HGNC:772 +HGNC:760 ASS1P10 argininosuccinate synthetase 1 pseudogene 10 pseudogene pseudogene Approved 5q32 05q32 ASSP10 argininosuccinate synthetase pseudogene 10 2001-06-22 2010-01-08 2010-01-08 2014-11-19 455 ENSG00000215325 OTTHUMG00000163346 NG_003021 "6093508|2435915" PGOHUM00000235803 HGNC:760 +HGNC:761 ASS1P11 argininosuccinate synthetase 1 pseudogene 11 pseudogene pseudogene Approved 7p15.3 07p15.3 TCAG_1641141 ASSP11 argininosuccinate synthetase pseudogene 11 1986-01-01 2010-01-08 2010-01-08 2014-11-19 340274 ENSG00000225308 OTTHUMG00000152549 NG_008639 6093508 PGOHUM00000232607 HGNC:761 +HGNC:762 ASS1P12 argininosuccinate synthetase 1 pseudogene 12 pseudogene pseudogene Approved 9p21.1 09p21.1 ASSP12 argininosuccinate synthetase pseudogene 12 1986-01-01 2010-01-08 2010-01-08 2016-10-05 392302 ENSG00000237437 OTTHUMG00000019754 NG_005207 6093508 PGOHUM00000261536 HGNC:762 +HGNC:763 ASS1P13 argininosuccinate synthetase 1 pseudogene 13 pseudogene pseudogene Approved 11q22.3 11q22.3 ASSP13 argininosuccinate synthetase pseudogene 13 2001-06-22 2010-01-08 2010-01-08 2020-04-07 341230 ENSG00000255353 OTTHUMG00000166299 NG_011669 6093508 PGOHUM00000242888 HGNC:763 +HGNC:764 ASS1P14 argininosuccinate synthetase 1 pseudogene 14 pseudogene pseudogene Approved 12p11.21 12p11.21 ASSP14 argininosuccinate synthetase pseudogene 14 2001-06-22 2010-01-08 2010-01-08 2020-04-07 459 ENSG00000257316 OTTHUMG00000169504 NG_001078 6093508 PGOHUM00000239734 HGNC:764 +HGNC:25021 ASTE1 asteroid homolog 1 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 HT001 asteroid homolog 1 (Drosophila) 2005-11-01 2017-05-22 2017-05-22 28990 ENSG00000034533 OTTHUMG00000159644 uc003env.3 AF113539 NM_014065 "CCDS75007|CCDS3068" Q2TB18 23344038 MGI:1913845 RGD:1304643 HGNC:25021 "ENST00000264992.8|NM_014065.4" +HGNC:31704 ASTL astacin like metalloendopeptidase protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "ovastacin|SAS1B" sperm acrosomal SLLP1 binding astacin-like metallo-endopeptidase (M12 family) Astacins 894 2004-07-01 2016-08-10 2016-10-05 431705 ENSG00000188886 OTTHUMG00000155212 uc010yui.2 AJ537600 NM_001002036 CCDS33249 Q6HA08 15087446 MGI:3046414 RGD:1562279 608860 M12.245 3.4.24.21 HGNC:31704 "ENST00000342380.3|NM_001002036.4" +HGNC:773 ASTN1 astrotactin 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 ASTN astrotactin "Fibronectin type III domain containing|MicroRNA protein coding host genes" "555|1691" 1996-08-12 2006-08-24 2006-08-24 2020-09-17 460 ENSG00000152092 OTTHUMG00000035041 uc001glc.5 AB006627 NM_004319 "CCDS1319|CCDS44280|CCDS65732" O14525 9070947 MGI:1098567 RGD:727799 600904 HGNC:773 "ENST00000361833.7|NM_004319.3" +HGNC:17021 ASTN2 astrotactin 2 protein-coding gene gene with protein product Approved 9q33.1 09q33.1 KIAA0634 "Fibronectin type III domain containing|Small nucleolar RNA protein coding host genes" "555|1835" 2001-10-18 2016-10-05 23245 ENSG00000148219 OTTHUMG00000021013 uc004bjt.3 AF116574 NM_014010 "CCDS6814|CCDS48009|CCDS55334|CCDS6815" O75129 9734811 MGI:1889277 RGD:2320342 612856 HGNC:17021 "ENST00000313400.9|NM_001365068.1" HGNC:17021 +HGNC:51175 ASTN2-AS1 ASTN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q33.1 09q33.1 Antisense RNAs 1987 2014-07-31 2014-07-31 100128505 ENSG00000229105 OTTHUMG00000020556 AK097822 NR_033973 ASTN2-AS1 HGNC:51175 +HGNC:18318 ASXL1 ASXL transcriptional regulator 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 KIAA0978 "additional sex combs like 1 (Drosophila)|additional sex combs like 1, transcriptional regulator" 2002-03-06 2018-05-10 2021-05-26 171023 ENSG00000171456 OTTHUMG00000032218 uc061wej.1 AJ438952 NM_015338 "CCDS86944|CCDS13201|CCDS86945" Q8IXJ9 12657473 MGI:2684063 RGD:1561878 LRG_630|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_630.xml ASXL1 612990 281482 HGNC:18318 "ENST00000375687.10|NM_015338.6" HGNC:18318 +HGNC:23805 ASXL2 ASXL transcriptional regulator 2 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "ASXH2|FLJ10898|KIAA1685" "additional sex combs like 2 (Drosophila)|additional sex combs like 2, transcriptional regulator" 2003-12-11 2018-05-10 2021-05-26 55252 ENSG00000143970 OTTHUMG00000152176 uc061hgj.1 NM_018263 Q76L83 12888926 MGI:1922552 RGD:1304710 LRG_1421|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1421.xml 612991 HGNC:23805 "ENST00000435504.9|NM_018263.6" HGNC:23805 +HGNC:29357 ASXL3 ASXL transcriptional regulator 3 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 KIAA1713 "KIAA1713|additional sex combs like 3 (Drosophila)|additional sex combs like 3, transcriptional regulator" 2005-01-11 2007-02-01 2018-05-10 2021-05-26 80816 ENSG00000141431 OTTHUMG00000178395 uc010dmg.2 AB051500 NM_030632 CCDS45847 Q9C0F0 11214970 MGI:2685175 RGD:1305869 615115 356141 HGNC:29357 "ENST00000269197.12|NM_030632.3" HGNC:29357 +HGNC:55290 ASXL3-DT ASXL3 divergent transcript non-coding RNA RNA, long non-coding Approved 18q12.1 18q12.1 Divergent transcripts 1990 2020-10-14 2020-10-14 118827808 ENSG00000267642 +HGNC:1350 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "Orf3|GASZ|ALP1|CT1.19" "C7orf7|ANKL1" ankyrin-like 1 "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 1999-08-23 2004-07-16 2005-03-15 2020-09-17 136991 ENSG00000154438 OTTHUMG00000064565 uc003vjb.2 AF461259 NM_130768 CCDS5772 Q8WWH4 "12040005|11279520" MGI:1921318 RGD:621579 605797 HGNC:1350 "ENST00000284629.7|NM_130768.3" HGNC:1350 +HGNC:25903 ATAD1 ATPase family AAA domain containing 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "FLJ14600|Msp1" thorase AAA ATPases 413 2004-03-24 2007-02-08 2019-01-18 2019-08-30 84896 ENSG00000138138 OTTHUMG00000018685 uc001kez.2 AL834370 NM_032810 CCDS7386 Q8NBU5 24843043 MGI:1915229 RGD:1308570 614452 HGNC:25903 "ENST00000680024.1|NM_001321967.2" HGNC:25903 +HGNC:30123 ATAD2 ATPase family AAA domain containing 2 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "PRO2000|DKFZp667N1320|MGC5254|MGC29843|CT137|ANCCA" AAA nuclear coregulator cancer-associated protein "AAA ATPases|Bromodomain containing|MicroRNA protein coding host genes" "413|1232|1691" 2004-03-24 2007-02-08 2019-01-18 2019-01-18 29028 ENSG00000156802 OTTHUMG00000165090 uc003yqh.5 BC019909 NM_014109 CCDS6343 Q6PL18 26459632 MGI:1917722 RGD:1304849 611941 objectId:2719 HGNC:30123 "ENST00000287394.10|NM_014109.4" +HGNC:29230 ATAD2B ATPase family AAA domain containing 2B protein-coding gene gene with protein product Approved 2p24.1-p23.3 02p24.1-p23.3 KIAA1240 "AAA ATPases|Bromodomain containing" "413|1232" 2006-11-28 2007-02-08 2019-01-18 2019-01-18 54454 ENSG00000119778 OTTHUMG00000151902 uc002rek.5 AB033066 NM_017552 CCDS46227 Q9ULI0 MGI:2444798 RGD:1566199 615347 objectId:2720 HGNC:29230 "ENST00000238789.10|NM_017552.4" +HGNC:25567 ATAD3A ATPase family AAA domain containing 3A protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ10709 AAA ATPases 413 2004-03-24 2007-02-08 2019-01-18 2021-05-26 55210 ENSG00000197785 OTTHUMG00000000575 uc001aga.3 AK025865 NM_018188 "CCDS31|CCDS53259|CCDS53260" Q9NVI7 28158749 MGI:1919214 RGD:1305964 612316 469968 HGNC:25567 "ENST00000378756.8|NM_001170535.3" HGNC:25567 +HGNC:24007 ATAD3B ATPase family AAA domain containing 3B protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "TOB3|KIAA1273" AAA ATPases 413 2004-03-24 2007-02-08 2019-01-18 2021-05-26 83858 ENSG00000160072 OTTHUMG00000000577 uc001afv.4 AL834179 NM_031921 CCDS30 Q5T9A4 10574462 MGI:1919214 612317 HGNC:24007 "ENST00000673477.1|NM_031921.6" +HGNC:32151 ATAD3C ATPase family AAA domain containing 3C protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ34599 AAA ATPases 413 2005-07-15 2007-02-08 2019-01-18 2019-01-18 219293 ENSG00000215915 OTTHUMG00000000531 uc001aft.2 AK091918 NM_001039211 CCDS44039 Q5T2N8 MGI:1919214 617227 HGNC:32151 "ENST00000378785.7|NM_001039211.3" +HGNC:25752 ATAD5 ATPase family AAA domain containing 5 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "FLJ12735|FRAG1|ELG1" enhanced level of genomic instability 1 homolog (S. cerevisiae) C17orf41 chromosome 17 open reading frame 41 AAA ATPases 413 2005-05-24 2007-02-08 2019-01-18 2019-01-18 79915 ENSG00000176208 OTTHUMG00000132794 uc002hfs.2 NM_024857 CCDS11260 Q96QE3 "15983387|11468690|19755857" MGI:2442925 RGD:1561464 609534 HGNC:25752 "ENST00000321990.5|NM_024857.5" +HGNC:21186 ATAT1 alpha tubulin acetyltransferase 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "FLJ13158|Em:AB023049.7|MEC17" alpha-tubulin N-acetyltransferase C6orf134 chromosome 6 open reading frame 134 Lysine acetyltransferases 486 2003-06-02 2010-10-11 2010-10-11 2017-07-11 79969 ENSG00000137343 OTTHUMG00000031219 uc003nqs.5 AK023220 NM_024909 "CCDS83072|CCDS4683|CCDS59002|CCDS83073|CCDS54978" Q5SQI0 20829795 MGI:1913869 RGD:1303066 615556 2.3.1.108 HGNC:21186 "ENST00000330083.6|NM_001031722.4" +HGNC:779 ATCAY ATCAY kinesin light chain interacting caytaxin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 BNIP-H "Cayman ataxia|caytaxin" "ataxia, cerebellar, Cayman type|ATCAY, caytaxin" BCH domain containing 1299 1997-01-10 2019-01-31 2021-05-26 85300 ENSG00000167654 OTTHUMG00000181836 uc002lyy.5 NM_033064 CCDS45923 Q86WG3 "8845847|14556008" MGI:2448730 RGD:1309312 608179 121472 HGNC:779 "ENST00000450849.7|NM_033064.5" HGNC:779 +HGNC:782 ATE1 arginyltransferase 1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 1999-09-07 2020-09-17 11101 ENSG00000107669 OTTHUMG00000019178 uc010qtr.3 AF079098 NM_001001976 "CCDS31300|CCDS31299|CCDS73213" O95260 "16002466|16943202" MGI:1333870 RGD:1309335 607103 2.3.2.8 HGNC:782 "ENST00000224652.12|NM_001001976.3" +HGNC:49496 ATE1-AS1 ATE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.13 10q26.13 ENST00000437593 Antisense RNAs 1987 2013-12-20 2015-04-22 2017-12-06 100130887 ENSG00000226864 OTTHUMG00000019179 NR_120495 ATE1-AS1 HGNC:49496 +HGNC:783 ATF1 activating transcription factor 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 TREB36 Basic leucine zipper proteins 506 1994-03-16 2020-09-17 466 ENSG00000123268 OTTHUMG00000169482 uc001rww.5 BC029619 NM_005171 CCDS8803 P18846 8401579 MGI:1298366 RGD:1307360 ATF1 123803 201770 HGNC:783 "ENST00000262053.8|NM_005171.5" +HGNC:37691 ATF1P1 activating transcription factor 1 pseudogene 1 pseudogene pseudogene Approved 6q16.1 06q16.1 2010-01-14 2014-11-18 100128159 ENSG00000219387 OTTHUMG00000015225 NG_016455 PGOHUM00000243295 HGNC:37691 +HGNC:784 ATF2 activating transcription factor 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "TREB7|CRE-BP1|HB16" CREB2 cAMP responsive element binding protein 2 "Basic leucine zipper proteins|MicroRNA protein coding host genes" "506|1691" 1991-08-01 2020-09-17 1386 ENSG00000115966 OTTHUMG00000132424 uc010fqu.5 X15875 NM_001880 "CCDS58738|CCDS58737|CCDS58739|CCDS2262" P15336 "1833307|1838349" MGI:109349 RGD:621862 123811 HGNC:784 "ENST00000264110.7|NM_001880.4" +HGNC:785 ATF3 activating transcription factor 3 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 Basic leucine zipper proteins 506 1994-08-03 2020-09-17 467 ENSG00000162772 OTTHUMG00000036747 uc001hjf.4 L19871 NM_001674 "CCDS1506|CCDS58059|CCDS41464|CCDS55688" P18847 7515060 MGI:109384 RGD:2165 603148 HGNC:785 "ENST00000341491.9|NM_001674.4" +HGNC:786 ATF4 activating transcription factor 4 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "TAXREB67|CREB-2" tax-responsive enhancer element B67 TXREB activating transcription factor 4 (tax-responsive enhancer element B67) Basic leucine zipper proteins 506 1992-06-09 2013-05-23 2020-09-17 468 ENSG00000128272 OTTHUMG00000151099 uc021wpz.2 D90209 NM_001675 CCDS13996 P18848 "1847461|1534408" MGI:88096 RGD:621863 604064 HGNC:786 "ENST00000674920.3|NM_182810.3" +HGNC:789 ATF4P1 activating transcription factor 4 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 TAXREB67P "TXREBP|ATF4P" activating transcription factor 4 pseudogene (tax-responsive enhancer element B67 pseudogene) 1994-01-31 2008-03-17 2008-03-17 2015-07-29 469 ENSG00000213338 OTTHUMG00000189741 U03712 NG_001080 8088803 PGOHUM00000241613 HGNC:789 +HGNC:34025 ATF4P2 activating transcription factor 4 pseudogene 2 pseudogene pseudogene Approved Xq28 Xq28 2008-03-17 2015-01-29 340600 ENSG00000273041 OTTHUMG00000188664 NG_002951 PGOHUM00000305402 HGNC:34025 +HGNC:788 ATF4P3 activating transcription factor 4 pseudogene 3 pseudogene pseudogene Approved 17q25.1 17q25.1 ATF4C activating transcription factor 4C 1999-10-28 2010-12-16 2010-12-16 2010-12-16 643159 ENSG00000228218 OTTHUMG00000132653 NG_009319 10610718 HGNC:788 +HGNC:787 ATF4P4 activating transcription factor 4 pseudogene 4 pseudogene pseudogene Approved 11q23.2 11q23.2 ATF4B activating transcription factor 4B 1999-10-28 2010-12-16 2010-12-16 2020-04-20 100127952 ENSG00000256167 OTTHUMG00000168194 NG_021835 10610718 PGOHUM00000242898 HGNC:787 +HGNC:790 ATF5 activating transcription factor 5 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "Basic leucine zipper proteins|MicroRNA protein coding host genes" "506|1691" 2000-03-22 2020-09-17 22809 ENSG00000169136 OTTHUMG00000183065 uc002prd.4 AF101388 NM_001193646 CCDS12789 Q9Y2D1 10373550 MGI:2141857 RGD:628902 606398 HGNC:790 "ENST00000423777.7|NM_001193646.2" +HGNC:791 ATF6 activating transcription factor 6 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 ATF6A activating transcription factor 6 alpha Basic leucine zipper proteins 506 1999-12-15 2021-05-26 22926 ENSG00000118217 OTTHUMG00000023961 uc001gbs.4 AB015856 NM_007348 CCDS1235 P18850 "9837962|9271374|11256944" MGI:1926157 RGD:1305471 605537 436836 HGNC:791 "ENST00000367942.4|NM_007348.4" HGNC:791 +HGNC:55826 ATF6-DT ATF6 divergent transcript non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Divergent transcripts 1990 2021-08-02 2021-08-02 102724329 ENSG00000226889 XR_007066694 +HGNC:2349 ATF6B activating transcription factor 6 beta protein-coding gene gene with protein product Approved 6p21.3 06p21.3 G13 CREBL1 cAMP responsive element binding protein-like 1 Basic leucine zipper proteins 506 1995-10-09 2008-10-21 2008-10-21 2015-08-28 1388 ENSG00000213676 OTTHUMG00000031296 uc011git.3 NM_001136153 "CCDS4737|CCDS47408" Q99941 "11256944|14973138" MGI:105121 RGD:1303317 600984 HGNC:2349 "ENST00000375203.8|NM_004381.5" +HGNC:792 ATF7 activating transcription factor 7 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 ATFA Basic leucine zipper proteins 506 2000-06-13 2020-09-17 11016 ENSG00000170653 OTTHUMG00000169776 uc001sdz.4 X52943 NM_001130059 "CCDS44906|CCDS58238" P17544 "1694576|11278933" MGI:2443472 RGD:1304940 606371 HGNC:792 "ENST00000420353.7|NM_006856.3" +HGNC:55073 ATF7-NPFF ATF7-NPFF readthrough other readthrough Approved 12q13.13 12q13.13 2020-06-11 2020-06-11 114108587 ENSG00000267281 NM_001366559 +HGNC:20092 ATF7IP activating transcription factor 7 interacting protein protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "FLJ10688|p621" Fibronectin type III domain containing 555 2002-12-17 2019-08-20 55729 ENSG00000171681 OTTHUMG00000168656 uc001rbw.4 AJ242978 NM_018179 "CCDS73449|CCDS66327|CCDS8663|CCDS66326" Q6VMQ6 "10976766|10777215" MGI:1858965 RGD:1306030 613644 HGNC:20092 "ENST00000261168.9|NM_018179.5" +HGNC:20397 ATF7IP2 activating transcription factor 7 interacting protein 2 protein-coding gene gene with protein product Approved 16p13.2-p13.13 16p13.2-p13.13 FLJ12668 Fibronectin type III domain containing 555 2003-04-03 2018-02-13 80063 ENSG00000166669 OTTHUMG00000129749 uc002czu.3 AK022730 NM_024997 "CCDS10540|CCDS58422" Q5U623 MGI:1922579 RGD:1583744 613645 HGNC:20397 "ENST00000562102.6|NM_001393719.1" +HGNC:29028 ATG2A autophagy related 2A protein-coding gene gene with protein product Approved 11q13.1 11q13.1 KIAA0404 ATG2 autophagy related 2 homolog A (S. cerevisiae) "Autophagy related|MicroRNA protein coding host genes" "1022|1691" 2007-07-31 2012-06-06 2015-09-11 23130 ENSG00000110046 OTTHUMG00000066831 uc001obx.4 NM_015104 CCDS31602 Q2TAZ0 21887408 MGI:1916291 RGD:1589890 616225 HGNC:29028 "ENST00000377264.8|NM_015104.3" +HGNC:20187 ATG2B autophagy related 2B protein-coding gene gene with protein product Approved 14q32.2 14q32.2 FLJ10242 C14orf103 "chromosome 14 open reading frame 103|ATG2 autophagy related 2 homolog B (S. cerevisiae)" Autophagy related 1022 2002-12-20 2007-07-31 2012-06-06 2016-10-05 55102 ENSG00000066739 OTTHUMG00000149933 uc001yfi.4 AK001104 NM_018036 CCDS9944 Q96BY7 22350415 MGI:1923809 RGD:1304878 616226 469970 HGNC:20187 "ENST00000359933.6|NM_018036.7" +HGNC:20962 ATG3 autophagy related 3 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "PC3-96|FLJ22125|MGC15201|DKFZp564M1178" APG3L "APG3 autophagy 3-like (S. cerevisiae)|ATG3 autophagy related 3 homolog (S. cerevisiae)" Autophagy related 1022 2004-07-05 2005-09-11 2012-06-06 2014-11-19 64422 ENSG00000144848 OTTHUMG00000159260 uc003dzd.5 NM_022488 "CCDS2966|CCDS63721" Q9NT62 11825910 MGI:1915091 RGD:708464 609606 HGNC:20962 "ENST00000283290.10|NM_022488.5" +HGNC:31123 ATG3P1 autophagy related 3 pseudogene 1 pseudogene pseudogene Approved 20q12 20q12 dJ54G6.1 ATG3P "ATG3 autophagy related 3 homolog (S. cerevisiae) pseudogene|ATG3 autophagy related 3 homolog (S. cerevisiae) pseudogene 1" 2008-01-31 2010-02-24 2012-06-06 2014-11-19 100135756 ENSG00000224357 OTTHUMG00000032467 AY392024 NG_007378 PGOHUM00000247532 HGNC:31123 +HGNC:16489 ATG4A autophagy related 4A cysteine peptidase protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "AUTL2|APG4A" "AUT-like 2, cysteine endopeptidase (S. cerevisiae)|APG4 autophagy 4 homolog A (S. cerevisiae)|ATG4 autophagy related 4 homolog A (S. cerevisiae)|autophagy related 4A, cysteine peptidase" Autophagy related 1022 2001-12-05 2005-09-11 2016-02-23 2016-02-23 115201 ENSG00000101844 OTTHUMG00000022176 uc004enr.4 AJ320508 NM_052936 "CCDS14538|CCDS14539" Q8WYN0 "12446702|12473658" MGI:2147903 RGD:1596915 300663 C54.002 HGNC:16489 "ENST00000372232.8|NM_052936.5" +HGNC:44081 ATG4AP1 autophagy related 4A cysteine peptidase pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 "ATG4A pseudogene 1|autophagy related 4A, cysteine peptidase pseudogene 1" 2012-06-06 2016-02-23 2016-02-23 106480786 ENSG00000232735 OTTHUMG00000021918 NG_044056 PGOHUM00000241877 HGNC:44081 +HGNC:20790 ATG4B autophagy related 4B cysteine peptidase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "Apg4B|KIAA0943|DKFZp586D1822|AUTL1" APG4B "APG4 autophagy 4 homolog B (S. cerevisiae)|ATG4 autophagy related 4 homolog B (S. cerevisiae)|autophagy related 4B, cysteine peptidase" Autophagy related 1022 2004-03-23 2005-09-11 2016-02-23 2016-02-23 23192 ENSG00000168397 OTTHUMG00000151514 uc002wbv.4 AB023160 NM_013325 "CCDS46565|CCDS46564" Q9Y4P1 12446702 MGI:1913865 RGD:1309664 611338 C54.003 objectId:2329 HGNC:20790 "ENST00000404914.8|NM_013325.5" +HGNC:16040 ATG4C autophagy related 4C cysteine peptidase protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "FLJ14867|AUTL3" "AUTL1|APG4C" "AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)|APG4 autophagy 4 homolog C (S. cerevisiae)|ATG4 autophagy related 4 homolog C (S. cerevisiae)|autophagy related 4C, cysteine peptidase" Autophagy related 1022 2001-07-13 2005-09-11 2016-02-23 2016-02-23 84938 ENSG00000125703 OTTHUMG00000009142 uc001dat.5 AK027773 NM_032852 CCDS623 Q96DT6 12446702 MGI:2651854 RGD:1598323 611339 C54.004 HGNC:16040 "ENST00000317868.9|NM_032852.4" +HGNC:20789 ATG4D autophagy related 4D cysteine peptidase protein-coding gene gene with protein product Approved 19p13.2 19p13.2 APG4-D "AUTL4|APG4D" "AUT-like 4, cysteine endopeptidase (S. cerevisiae)|APG4 autophagy 4 homolog D (S. cerevisiae)|ATG4 autophagy related 4 homolog D (S. cerevisiae)|autophagy related 4D, cysteine peptidase" "Autophagy related|MicroRNA protein coding host genes" "1022|1691" 2003-04-11 2005-09-11 2016-02-23 2016-02-23 84971 ENSG00000130734 OTTHUMG00000180582 uc002mov.5 AJ312332 NM_032885 CCDS12241 Q86TL0 12446702 MGI:2444308 RGD:1596392 611340 C54.005 HGNC:20789 "ENST00000309469.9|NM_032885.6" HGNC:20789 +HGNC:589 ATG5 autophagy related 5 protein-coding gene gene with protein product Approved 6q21 06q21 "ASP|APG5|hAPG5" APG5L "APG5 (autophagy 5, S. cerevisiae)-like|APG5 autophagy 5-like (S. cerevisiae)|ATG5 autophagy related 5 homolog (S. cerevisiae)" Autophagy related 1022 1999-09-16 2005-09-11 2012-06-06 2020-09-17 9474 ENSG00000057663 OTTHUMG00000016193 uc003prf.4 Y11588 NM_004849 "CCDS75498|CCDS5055|CCDS69159" Q9H1Y0 "9563500|11349150|15778222" MGI:1277186 RGD:1359580 604261 HGNC:589 "ENST00000369076.8|NM_004849.4" +HGNC:16935 ATG7 autophagy related 7 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "GSA7|DKFZp434N0735" ubiquitin-activating enzyme E1-like protein APG7L "APG7 autophagy 7-like (S. cerevisiae)|ATG7 autophagy related 7 homolog (S. cerevisiae)" "Ubiquitin like modifier activating enzymes|Autophagy related" "100|1022" 2003-11-20 2005-09-11 2012-06-06 2016-10-05 10533 ENSG00000197548 OTTHUMG00000129740 uc003bwc.4 AF094516 NM_006395 "CCDS2605|CCDS46753|CCDS46752" O95352 10233149 MGI:1921494 RGD:1304817 608760 HGNC:16935 "ENST00000693202.1|NM_001349232.2" +HGNC:22408 ATG9A autophagy related 9A protein-coding gene gene with protein product Approved 2q35 02q35 FLJ22169 APG9L1 "APG9 autophagy 9-like 1 (S. cerevisiae)|ATG9 autophagy related 9 homolog A (S. cerevisiae)" Autophagy related 1022 2004-11-24 2005-09-11 2012-06-06 2015-09-11 79065 ENSG00000198925 OTTHUMG00000154557 uc002vkf.3 AK021732 NM_024085 CCDS42820 Q7Z3C6 MGI:2138446 RGD:1310450 612204 HGNC:22408 "ENST00000361242.9|NM_001077198.3" +HGNC:21899 ATG9B autophagy related 9B protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "FLJ14885|APG9L2|SONE" NOS3AS "nitric oxide synthase 3 antisense|ATG9 autophagy related 9 homolog B (S. cerevisiae)" Autophagy related 1022 2004-11-24 2005-09-11 2012-06-06 2016-10-05 285973 ENSG00000181652 OTTHUMG00000158634 uc064jfp.1 AK027791 NM_173681 CCDS83242 Q674R7 "15234981|15755735" MGI:2685420 RGD:1560887 612205 HGNC:21899 "ENST00000639579.2|NM_001317056.2" +HGNC:20315 ATG10 autophagy related 10 protein-coding gene gene with protein product Approved 5q14.1-q14.2 05q14.1-q14.2 "DKFZP586I0418|FLJ13954" APG10L "APG10 autophagy 10-like (S. cerevisiae)|ATG10 autophagy related 10 homolog (S. cerevisiae)" Autophagy related 1022 2003-01-28 2005-09-11 2012-06-06 2018-02-13 83734 ENSG00000152348 OTTHUMG00000119041 uc003khr.5 AK024016 NM_001131028 CCDS4057 Q9H0Y0 MGI:1914045 RGD:1587624 610800 HGNC:20315 "ENST00000282185.8|NM_031482.5" +HGNC:40914 ATG10-AS1 ATG10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 ATG10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100874022 ENSG00000248192 OTTHUMG00000162770 uc063faq.1 ATG10-AS1 +HGNC:41455 ATG10-IT1 ATG10 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 ATG10 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874311 ENSG00000236447 OTTHUMG00000162771 uc063fap.1 ATG10-IT1 +HGNC:588 ATG12 autophagy related 12 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 APG12 APG12 autophagy 12-like APG12L "Apg12 (autophagy 12, S. cerevisiae)-like|APG12 autophagy 12-like (S. cerevisiae)|ATG12 autophagy related 12 homolog (S. cerevisiae)" Autophagy related 1022 1999-10-01 2005-09-11 2012-06-06 2020-09-17 9140 ENSG00000145782 OTTHUMG00000128889 uc003krh.4 AB017507 NM_004707 "CCDS4122|CCDS64222" O94817 9852036 MGI:1914776 RGD:1306306 609608 HGNC:588 "ENST00000509910.2|NM_004707.4" +HGNC:21466 ATG12P1 autophagy related 12 pseudogene 1 pseudogene pseudogene Approved 17q25.1 17q25.1 ATG12P "ATG12 autophagy related 12 homolog (S. cerevisiae) pseudogene|ATG12 autophagy related 12 homolog (S. cerevisiae) pseudogene 1" 2008-01-31 2010-06-29 2012-06-06 2020-04-06 100151642 ENSG00000266501 OTTHUMG00000178319 NG_007656 PGOHUM00000237173 HGNC:21466 +HGNC:38605 ATG12P2 autophagy related 12 pseudogene 2 pseudogene pseudogene Approved 2q36.1 02q36.1 ATG12 autophagy related 12 homolog (S. cerevisiae) pseudogene 2 2010-06-29 2012-06-06 2014-11-19 100293948 ENSG00000224121 OTTHUMG00000153389 NG_016651 PGOHUM00000250451 HGNC:38605 +HGNC:29091 ATG13 autophagy related 13 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 KIAA0652 "KIAA0652|ATG13 autophagy related 13 homolog (S. cerevisiae)" Autophagy related 1022 2005-10-28 2010-06-29 2012-06-06 2014-11-19 9776 ENSG00000175224 OTTHUMG00000166538 uc001ncz.4 AB014552 NM_014741 "CCDS44582|CCDS7921|CCDS55760|CCDS55761" O75143 "15169610|18339812|17204848" MGI:1196429 RGD:1310685 615088 HGNC:29091 "ENST00000683050.1|NM_001346311.2" +HGNC:19962 ATG14 autophagy related 14 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 ATG14L "Barkor|beclin 1-associated autophagy-related key regulator" KIAA0831 "KIAA0831|ATG14 autophagy related 14 homolog (S. cerevisiae)" "Autophagy related|PIK3C3 complex subunits" "1022|1596" 2003-11-21 2010-06-29 2012-06-06 2016-10-05 22863 ENSG00000126775 OTTHUMG00000172129 uc001xbx.3 AB020638 NM_014924 CCDS32087 Q6ZNE5 18843052 MGI:1261775 RGD:1304610 613515 HGNC:19962 "ENST00000247178.6|NM_014924.5" +HGNC:21498 ATG16L1 autophagy related 16 like 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "WDR30|FLJ10035|ATG16A" "APG16L|ATG16L" "APG16 autophagy 16-like (S. cerevisiae)|ATG16 autophagy related 16-like (S. cerevisiae)|ATG16 autophagy related 16-like 1 (S. cerevisiae)" "WD repeat domain containing|Autophagy related" "362|1022" 2003-12-22 2005-09-13 2015-11-24 2015-11-24 55054 ENSG00000085978 OTTHUMG00000133619 uc002vty.3 AK000897 NM_017974 "CCDS2502|CCDS86927|CCDS2503|CCDS54438" Q676U5 MGI:1924290 RGD:1310631 610767 235213 HGNC:21498 "ENST00000392017.9|NM_030803.7" +HGNC:25464 ATG16L2 autophagy related 16 like 2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FLJ00012|WDR80|ATG16B" "ATG16 autophagy related 16-like 2 (S. cerevisiae)|autophagy related 16-like 2 (S. cerevisiae)" "WD repeat domain containing|Autophagy related" "362|1022" 2005-09-13 2015-11-24 2015-11-24 89849 ENSG00000168010 OTTHUMG00000167961 uc001otd.4 AK024423 NM_033388 CCDS31634 Q8NAA4 11214971 MGI:1920933 RGD:1311400 618716 HGNC:25464 "ENST00000321297.10|NM_033388.2" +HGNC:25679 ATG101 autophagy related 101 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 FLJ11773 C12orf44 chromosome 12 open reading frame 44 Autophagy related 1022 2006-01-23 2014-02-12 2014-02-12 2014-11-19 60673 ENSG00000123395 OTTHUMG00000169611 AF218031 NM_021934 CCDS8820 Q9BSB4 "19287211|19597335" MGI:1915368 RGD:1359310 615089 HGNC:25679 "ENST00000336854.9|NM_021934.5" +HGNC:794 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase protein-coding gene gene with protein product Approved 2q35 02q35 "PURH|AICARFT|IMPCHASE" phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase Purinosome 1569 1997-05-15 2021-05-26 471 ENSG00000138363 OTTHUMG00000133023 uc002vex.5 NM_004044 CCDS2398 P31939 "8567683|9378707" MGI:1351352 RGD:70879 ATIC 601731 260894 "2.1.2.3|3.5.4.10" HGNC:794 "ENST00000236959.14|NM_004044.7" HGNC:794 +HGNC:11231 ATL1 atlastin GTPase 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "FSP1|AD-FSP" atlastin "SPG3|SPG3A" spastic paraplegia 3A (autosomal dominant) Atlastins 1887 1993-10-28 2008-09-17 2008-09-17 2021-05-26 51062 ENSG00000198513 OTTHUMG00000140297 uc059bjs.1 AF131801 NM_001127713 "CCDS32077|CCDS9700" Q8WXF7 "8252041|7825576" MGI:1921241 RGD:1359232 LRG_360|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_360.xml 606439 119821 HGNC:11231 "ENST00000358385.12|NM_015915.5" HGNC:11231 +HGNC:24047 ATL2 atlastin GTPase 2 protein-coding gene gene with protein product Approved 2p22.2-p22.1 02p22.2-p22.1 atlastin2 Atlastin-2 ARL6IP2 ADP-ribosylation factor-like 6 interacting protein 2 Atlastins 1887 2004-01-21 2008-09-17 2008-09-17 2021-10-28 64225 ENSG00000119787 OTTHUMG00000102074 uc002rqq.4 NM_022374 "CCDS82436|CCDS1795|CCDS86831|CCDS77402|CCDS46260" Q8NHH9 "10508919|18270207|27669642" MGI:1929492 RGD:1305125 609368 HGNC:24047 "ENST00000378954.9|NM_001135673.4" HGNC:24047 +HGNC:24526 ATL3 atlastin GTPase 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 DKFZP564J0863 Atlastins 1887 2008-09-17 2021-05-26 25923 ENSG00000184743 OTTHUMG00000167854 uc001nxk.2 NM_015459 "CCDS41663|CCDS73309" Q6DD88 18270207 MGI:1924270 RGD:1309871 609369 392307 HGNC:24526 "ENST00000398868.8|NM_015459.5" HGNC:24526 +HGNC:795 ATM ATM serine/threonine kinase protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "TEL1|TELO1" TEL1, telomere maintenance 1, homolog (S. cerevisiae) "ATA|ATDC|ATC|ATD" "ataxia telangiectasia mutated (includes complementation groups A, C and D)|ataxia telangiectasia mutated" Armadillo like helical domain containing 1492 1995-07-07 2014-06-17 2021-04-13 472 ENSG00000149311 OTTHUMG00000166480 uc001pkb.1 AB209133 NM_000051 "CCDS31669|CCDS86245" Q13315 MGI:107202 RGD:1593265 "Ataxia Telangiectasia Mutated (ATM)|http://www.LOVD.nl/ATM|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATM|LRG_135|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_135.xml" ATM 607585 121474 objectId:1934 HGNC:795 "ENST00000675843.1|NM_000051.4" HGNC:795 +HGNC:29034 ATMIN ATM interactor protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "ASCIZ|KIAA0431|ZNF822" "ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein|ATM INteracting protein" Zinc fingers C2H2-type 28 2007-12-06 2014-11-19 23300 ENSG00000166454 OTTHUMG00000176469 uc002ffz.2 BC002701 NM_015251 "CCDS73917|CCDS32494" O43313 "15933716|17525732|19001856" MGI:2682328 RGD:1305781 614693 HGNC:29034 "ENST00000299575.5|NM_015251.3" +HGNC:3033 ATN1 atrophin 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 B37 "D12S755E|DRPLA" dentatorubral-pallidoluysian atrophy (atrophin-1) Atrophins 2003 1994-04-07 2005-03-17 2005-03-15 2021-05-26 1822 ENSG00000111676 OTTHUMG00000169015 uc001qrw.2 U23851 NM_001940 CCDS31734 P54259 8136826 MGI:104725 RGD:61832 607462 121482 HGNC:3033 "ENST00000396684.3|NM_001940.4" HGNC:3033 +HGNC:797 ATOH1 atonal bHLH transcription factor 1 protein-coding gene gene with protein product Approved 4q22.2 04q22.2 "HATH1|MATH-1|Math1|bHLHa14" basic helix-loop-helix family member a14 "atonal homolog 1 (Drosophila)|atonal homolog bHLH transcription factor 1" Basic helix-loop-helix proteins 420 1997-02-27 2015-06-19 2021-10-28 474 ENSG00000172238 OTTHUMG00000130972 uc003hta.2 U61148 NM_005172 CCDS3638 Q92858 "8872459|15711559" MGI:104654 RGD:1565171 601461 HGNC:797 "ENST00000306011.6|NM_005172.2" +HGNC:13907 ATOH7 atonal bHLH transcription factor 7 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "Math5|bHLHa13" "atonal homolog 7 (Drosophila)|atonal homolog bHLH transcription factor 7" Basic helix-loop-helix proteins 420 2002-07-05 2015-06-19 2021-05-26 220202 ENSG00000179774 OTTHUMG00000018346 uc001jnq.4 AF418922 NM_145178 CCDS7276 Q8N100 11889557 MGI:1355553 RGD:1304957 609875 298500 HGNC:13907 "ENST00000373673.5|NM_145178.4" HGNC:13907 +HGNC:24126 ATOH8 atonal bHLH transcription factor 8 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "HATH6|FLJ14708|bHLHa21" basic helix loop helix transcription factor 6 "atonal homolog 8 (Drosophila)|atonal homolog bHLH transcription factor 8" Basic helix-loop-helix proteins 420 2004-02-11 2015-06-19 2015-06-19 84913 ENSG00000168874 OTTHUMG00000130178 uc002sqn.4 AK074681 NM_032827 CCDS1985 Q96SQ7 12419857 MGI:1918343 RGD:1561512 619820 HGNC:24126 "ENST00000306279.4|NM_032827.7" +HGNC:798 ATOX1 antioxidant 1 copper chaperone protein-coding gene gene with protein product Approved 5q33.1 05q33.1 HAH1 "ATX1 (antioxidant protein 1, yeast) homolog 1|ATX1 antioxidant protein 1 homolog (yeast)" 1997-07-22 2013-05-01 2020-09-17 475 ENSG00000177556 OTTHUMG00000163499 uc003luk.4 U70660 NM_004045 CCDS47317 O00244 9083055 MGI:1333855 RGD:621684 602270 HGNC:798 "ENST00000313115.11|NM_004045.4" +HGNC:55528 ATOX1-AS1 ATOX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q33.1 05q33.1 Antisense RNAs 1987 2021-03-22 2021-03-22 105378235 ENSG00000253921 XR_007059008 +HGNC:799 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "sodium/potassium-transporting ATPase subunit alpha-1|sodium pump subunit alpha-1|sodium-potassium ATPase catalytic subunit alpha-1" ATPase, Na+/K+ transporting, alpha 1 polypeptide ATPase Na+/K+ transporting subunits 1208 1988-05-11 2016-02-10 2021-05-26 476 ENSG00000163399 OTTHUMG00000012109 uc001ege.5 D00099 NM_001160233 "CCDS53351|CCDS53352|CCDS887" P05023 MGI:88105 RGD:2167 ATP1A1 182310 366774 objectId:833 3.6.3.9 HGNC:799 "ENST00000295598.10|NM_000701.8" HGNC:799 +HGNC:28262 ATP1A1-AS1 ATP1A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.1 01p13.1 MGC16179 "C1orf203|ATP1A1OS" "chromosome 1 open reading frame 203|ATP1A1 opposite strand" Antisense RNAs 1987 2005-11-17 2014-03-31 2014-03-31 2014-11-19 84852 ENSG00000203865 OTTHUMG00000012111 BC007373 NR_024124 Q5TC04 12477932 618305 ATP1A1-AS1 HGNC:28262 +HGNC:800 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 FHM2 "sodium/potassium-transporting ATPase subunit alpha-2|sodium pump subunit alpha-2|sodium-potassium ATPase catalytic subunit alpha-2" MHP2 "migraine, hemiplegic 2|ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide|ATPase, Na+/K+ transporting, alpha 2 polypeptide" ATPase Na+/K+ transporting subunits 1208 1988-05-11 2016-02-10 2021-05-26 477 ENSG00000018625 OTTHUMG00000024080 uc001fvc.4 AB018321 NM_000702 CCDS1196 P50993 9403481 MGI:88106 RGD:2168 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP1A2|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP1A2|LRG_6|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_6.xml" 182340 121497 objectId:834 3.6.3.9 HGNC:800 "ENST00000361216.8|NM_000702.4" HGNC:800 +HGNC:801 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "sodium/potassium-transporting ATPase subunit alpha-3|sodium pump subunit alpha-3|sodium-potassium ATPase catalytic subunit alpha-3" DYT12 "dystonia 12|ATPase, Na+/K+ transporting, alpha 3 polypeptide" ATPase Na+/K+ transporting subunits 1208 1986-01-01 2016-02-10 2021-05-26 478 ENSG00000105409 OTTHUMG00000137384 uc010xwh.4 NM_152296 "CCDS58664|CCDS58663|CCDS12594" P13637 17282997 MGI:88107 RGD:2169 LRG_1186|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1186.xml 182350 121501 objectId:835 3.6.3.9 HGNC:801 "ENST00000648268.1|NM_152296.5" HGNC:801 +HGNC:14073 ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "sodium/potassium-transporting ATPase subunit alpha-4|sodium pump subunit alpha-4|sodium-potassium ATPase catalytic subunit alpha-4" ATP1AL2 "ATPase, Na+/K+ transporting, alpha polypeptide-like 2|ATPase, Na+/K+ transporting, alpha 4 polypeptide" ATPase Na+/K+ transporting subunits 1208 2000-11-28 2016-02-10 2016-02-10 480 ENSG00000132681 OTTHUMG00000031609 uc001fve.5 BC028297 NM_144699 "CCDS1197|CCDS44255" Q13733 "1981991|3035563" MGI:1351335 RGD:61952 607321 objectId:836 HGNC:14073 "ENST00000368081.9|NM_144699.4" +HGNC:804 ATP1B1 ATPase Na+/K+ transporting subunit beta 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "sodium/potassium-transporting ATPase subunit beta-1|sodium pump subunit beta-1|sodium-potassium ATPase subunit beta 1 (non-catalytic)" ATP1B ATPase, Na+/K+ transporting, beta 1 polypeptide ATPase Na+/K+ transporting subunits 1208 1986-01-01 2016-02-10 2020-09-17 481 ENSG00000143153 OTTHUMG00000034590 uc001gfr.2 U16799 NM_001677 CCDS1276 P05026 MGI:88108 RGD:2170 182330 objectId:837 HGNC:804 "ENST00000367815.9|NM_001677.4" +HGNC:809 ATP1B1P1 ATPase Na+/K+ transporting subunit beta 1 pseudogene 1 pseudogene pseudogene Approved 4p13 04p13 ATP1BL1 "ATPase, Na+/K+ transporting, beta polypeptide-like 1|ATPase, Na+/K+ transporting, beta 1 polypeptide pseudogene 1" 1988-08-12 2010-03-24 2016-02-10 2016-02-10 485 ENSG00000249212 OTTHUMG00000160530 M25159 NG_001081 "2559024|2842249" PGOHUM00000245890 HGNC:809 +HGNC:805 ATP1B2 ATPase Na+/K+ transporting subunit beta 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 AMOG "sodium/potassium-transporting ATPase subunit beta-2|sodium pump subunit beta-2|sodium-potassium ATPase subunit beta 2 (non-catalytic)" ATPase, Na+/K+ transporting, beta 2 polypeptide ATPase Na+/K+ transporting subunits 1208 1990-05-28 2016-02-10 2020-09-17 482 ENSG00000129244 OTTHUMG00000178018 uc002gif.2 U45945 NM_001678 CCDS32550 P14415 1699290 MGI:88109 RGD:2171 182331 objectId:838 3.6.3.9 HGNC:805 "ENST00000250111.9|NM_001678.5" +HGNC:806 ATP1B3 ATPase Na+/K+ transporting subunit beta 3 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ29027|CD298" "sodium/potassium-transporting ATPase subunit beta-3|sodium pump subunit beta-3|sodium-potassium ATPase subunit beta 3 (non-catalytic)" ATPase, Na+/K+ transporting, beta 3 polypeptide "CD molecules|ATPase Na+/K+ transporting subunits" "471|1208" 1997-06-18 2016-02-10 2020-09-17 483 ENSG00000069849 OTTHUMG00000159081 uc003eug.2 BC011835 NM_001679 CCDS3121 P54709 "8798450|9457675" MGI:107788 RGD:2172 601867 objectId:839 CD298 HGNC:806 "ENST00000286371.8|NM_001679.4" +HGNC:40088 ATP1B3-AS1 ATP1B3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 ATP1B3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874077 ENSG00000244124 OTTHUMG00000159102 uc062omw.1 ATP1B3-AS1 +HGNC:807 ATP1B3P1 ATPase Na+/K+ transporting subunit beta 3 pseudogene 1 pseudogene pseudogene Approved 2p16.1 02p16.1 ATPase, Na+/K+ transporting, beta 3 pseudogene 1997-07-25 2016-02-10 2016-08-01 484 ENSG00000271707 OTTHUMG00000184452 AF005898 NG_000849 9457675 PGOHUM00000297875 HGNC:807 +HGNC:808 ATP1B4 ATPase Na+/K+ transporting family member beta 4 protein-coding gene gene with protein product Approved Xq24 Xq24 "Na,K-ATPase beta m-subunit|BetaM" "ATPase, (Na+)/K+ transporting, beta 4 polypeptide|ATPase, Na+/K+ transporting, beta 4 polypeptide" 2000-08-22 2016-02-10 2020-09-17 23439 ENSG00000101892 OTTHUMG00000022299 uc004esq.4 AF158383 NM_001142447 "CCDS14598|CCDS48158" Q9UN42 "10456317|17592128|21855530" MGI:1915071 RGD:620994 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP1B4 301073 HGNC:808 "ENST00000218008.8|NM_001142447.3" +HGNC:811 ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 SERCA1 "sarcoplasmic/endoplasmic reticulum calcium ATPase 1|calcium pump 1" ATP2A ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ATPases Ca2+ transporting 1209 1990-09-10 2016-02-10 2020-09-17 487 ENSG00000196296 OTTHUMG00000131760 uc002drn.1 NM_004320 "CCDS42139|CCDS10643|CCDS66997" O14983 MGI:105058 RGD:621293 108730 118840 objectId:840 3.6.3.8 HGNC:811 "ENST00000395503.9|NM_004320.6" HGNC:811 +HGNC:51370 ATP2A1-AS1 ATP2A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Antisense RNAs 1987 2014-10-16 2014-10-16 100289092 ENSG00000260442 OTTHUMG00000176592 "BX099641|AI015924" NR_046287 ATP2A1-AS1 HGNC:51370 +HGNC:812 ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 SERCA2 "sarcoplasmic/endoplasmic reticulum calcium ATPase 2|calcium pump 2" "ATP2B|DAR" ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ATPases Ca2+ transporting 1209 1990-09-10 2016-02-10 2020-09-17 488 ENSG00000174437 OTTHUMG00000169327 uc001tqk.5 NM_001681 "CCDS9144|CCDS9143" P16615 10080178 MGI:88110 RGD:2174 108740 118844 objectId:841 3.6.3.8 HGNC:812 "ENST00000539276.7|NM_170665.4" HGNC:812 +HGNC:813 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 SERCA3 "sarcoplasmic/endoplasmic reticulum calcium ATPase 3|calcium pump 3" ATPase, Ca++ transporting, ubiquitous ATPases Ca2+ transporting 1209 1992-07-20 2016-02-10 2020-09-17 489 ENSG00000074370 OTTHUMG00000177674 uc002fxc.3 NM_174953 "CCDS11041|CCDS11042|CCDS42234|CCDS45580|CCDS45579" Q93084 8809064 MGI:1194503 RGD:2175 601929 objectId:842 3.6.3.8 HGNC:813 "ENST00000397041.8|NM_005173.4" +HGNC:814 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 PMCA1 plasma membrane calcium-transporting ATPase 1 ATPase, Ca++ transporting, plasma membrane 1 ATPases Ca2+ transporting 1209 1990-10-05 2016-02-10 2020-09-17 490 ENSG00000070961 OTTHUMG00000169946 uc058rpj.1 J04027 NM_001682 "CCDS9035|CCDS41817" P20020 1674727 MGI:104653 RGD:621303 108731 objectId:843 3.6.3.8 HGNC:814 "ENST00000428670.8|NM_001366521.1" +HGNC:27883 ATP2B1-AS1 ATP2B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 LINC00936 long intergenic non-protein coding RNA 936 Antisense RNAs 1987 2013-05-30 2016-11-11 2016-11-11 2016-11-11 338758 ENSG00000271614 OTTHUMG00000169947 NR_028138 12477932 HGNC:27883 +HGNC:815 ATP2B2 ATPase plasma membrane Ca2+ transporting 2 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 PMCA2 "plasma membrane Ca2+ pump 2|plasma membrane calcium-transporting ATPase 2" ATPase, Ca++ transporting, plasma membrane 2 "ATPases Ca2+ transporting|MicroRNA protein coding host genes" "1209|1691" 1992-06-26 2016-02-10 2020-09-17 491 ENSG00000157087 OTTHUMG00000128679 uc003bvw.3 X63575 NM_001683 "CCDS82733|CCDS2601|CCDS87040|CCDS33701" Q01814 1313367 MGI:105368 RGD:2176 108733 447183 objectId:844 3.6.3.8 HGNC:815 "ENST00000360273.7|NM_001001331.4" HGNC:815 +HGNC:41309 ATP2B2-IT1 ATP2B2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 ATP2B2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874324 ENSG00000236999 OTTHUMG00000140094 uc062gsp.1 ATP2B2-IT1 +HGNC:41310 ATP2B2-IT2 ATP2B2 intronic transcript 2 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 ATP2B2 intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2011-06-08 2015-02-25 2015-02-25 100874325 ENSG00000224771 OTTHUMG00000140095 uc062gsq.1 NR_046766 ATP2B2-IT2 HGNC:41310 +HGNC:816 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "PMCA3|CFAP39" "plasma membrane calcium-transporting ATPase 3|cilia and flagella associated protein 39" "SCAX1|CLA2" "spinocerebellar ataxia, X-linked 1|cerebellar ataxia 2 (X-linked)|ATPase, Ca++ transporting, plasma membrane 3" "ATPases Ca2+ transporting|Cilia and flagella associated" "1209|1491" 1992-07-10 2016-02-10 2020-09-17 492 ENSG00000067842 OTTHUMG00000024202 uc065btp.1 U60414 NM_021949 "CCDS14722|CCDS35440" Q16720 "8187550|22912398" MGI:1347353 RGD:621304 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP2B3 ATP2B3 300014 311398 objectId:845 3.6.3.8 HGNC:816 "ENST00000263519.5|NM_001001344.3" HGNC:816 +HGNC:817 ATP2B4 ATPase plasma membrane Ca2+ transporting 4 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 PMCA4 plasma membrane calcium-transporting ATPase 4 "ATP2B2|MXRA1" "matrix-remodelling associated 1|ATPase, Ca++ transporting, plasma membrane 4" "ATPases Ca2+ transporting|Small nucleolar RNA protein coding host genes" "1209|1835" 1990-10-05 2016-02-10 2020-09-17 493 ENSG00000058668 OTTHUMG00000035906 uc001gzw.4 M25874 NM_001001396 "CCDS1440|CCDS30977" P23634 1674727 MGI:88111 RGD:621305 108732 objectId:846 3.6.3.8 HGNC:817 "ENST00000357681.10|NM_001684.5" +HGNC:13211 ATP2C1 ATPase secretory pathway Ca2+ transporting 1 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "KIAA1347|ATP2C1A|PMR1|SPCA1" "secretory pathway Ca2+/Mn2+ ATPase 1|calcium-transporting ATPase type 2C member 1" BCPM "benign chronic pemphigus (Hailey-Hailey disease)|ATPase, Ca++ transporting, type 2C, member 1" ATPases Ca2+ transporting 1209 2000-09-19 2016-02-10 2016-10-05 27032 ENSG00000017260 OTTHUMG00000136802 uc003ens.4 AF181120 NM_001001486 "CCDS46913|CCDS46914|CCDS56280|CCDS56279|CCDS56278|CCDS56281|CCDS46912|CCDS33856|CCDS75006" P98194 "10615129|10767338" MGI:1889008 RGD:621311 604384 118849 objectId:847 3.6.3.8 HGNC:13211 "ENST00000510168.6|NM_001378687.1" HGNC:13211 +HGNC:29103 ATP2C2 ATPase secretory pathway Ca2+ transporting 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "KIAA0703|SPCA2" secretory pathway calcium ATPase 2 ATPase, Ca++ transporting, type 2C, member 2 ATPases Ca2+ transporting 1209 2006-10-20 2016-02-10 2016-02-10 9914 ENSG00000064270 OTTHUMG00000176737 uc002fhx.4 AK091051 NM_014861 "CCDS67088|CCDS42207" O75185 9734811 MGI:1916297 RGD:620647 613082 objectId:848 3.6.3.8 HGNC:29103 "ENST00000262429.9|NM_014861.4" +HGNC:53167 ATP2C2-AS1 ATP2C2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 "RP11-517C16.2-001|RP11-517C16.2" Antisense RNAs 1987 2017-03-10 2018-06-15 105371374 ENSG00000261286 OTTHUMG00000176738 NR_146503 "28265570|29712923" HGNC:53167 +HGNC:819 ATP4A ATPase H+/K+ transporting subunit alpha protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ATP6A "gastric H,K-ATPase alpha subunit|H(+)-K(+)-ATPase alpha subunit|proton pump" "ATPase, H+/K+ exchanging, alpha polypeptide|ATPase H+/K+ transporting alpha subunit" ATPase H+/K+ transporting 1211 1990-09-10 2018-04-23 2021-05-26 495 ENSG00000105675 OTTHUMG00000048106 uc002oal.2 NM_000704 CCDS12467 P20648 1330887 MGI:88113 RGD:2177 137216 467238 objectId:849 3.6.3.10 HGNC:819 "ENST00000262623.4|NM_000704.3" HGNC:819 +HGNC:820 ATP4B ATPase H+/K+ transporting subunit beta protein-coding gene gene with protein product Approved 13q34 13q34 ATP6B "ATPase, H+/K+ exchanging, beta polypeptide|ATPase H+/K+ transporting beta subunit" ATPase H+/K+ transporting 1211 1992-11-26 2018-04-23 2020-09-17 496 ENSG00000186009 OTTHUMG00000140234 uc001vtz.5 NM_000705 CCDS9539 P51164 "1330887|15057823" MGI:88114 RGD:2178 137217 objectId:851 3.6.3.10 HGNC:820 "ENST00000335288.5|NM_000705.4" +HGNC:823 ATP5F1A ATP synthase F1 subunit alpha protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "ATP5A|hATP1|OMR|ORM" "ATP5AL2|ATPM|ATP5A1" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle" "Mitochondrial complex V: ATP synthase subunits|ATPase F1/V1 alpha/A and beta/B subunit family" "644|2053" 1993-02-25 2017-11-22 2017-11-22 2021-05-26 498 ENSG00000152234 OTTHUMG00000132637 uc002lbt.1 D14710 NM_004046 "CCDS58620|CCDS11927|CCDS59315" P25705 1830491 MGI:88115 RGD:619993 164360 353576 objectId:796 7.1.2.2 HGNC:823 "ENST00000398752.11|NM_004046.6" HGNC:823 +HGNC:827 ATP5F1AP1 ATP synthase F1 subunit alpha pseudogene 1 pseudogene pseudogene Approved 9p11.1 09p11.1 "ATP5AP1|ATP5A1P5|ATP5AL1|ATP5A1P6|ATP5A1P1" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 1|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle-like 1|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle-like 1|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle-like 1 pseudogene|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 6|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 1" 1997-05-22 2017-11-22 2017-11-22 2020-04-20 442416 ENSG00000234861 OTTHUMG00000066804 NG_016580 9284928 PGOHUM00000303835 HGNC:827 +HGNC:828 ATP5F1AP2 ATP synthase F1 subunit alpha pseudogene 2 pseudogene pseudogene Approved 2q24.1 02q24.1 "ATP5AP2|ATP5A1P2" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 2|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2" 1997-05-22 2017-11-22 2017-11-22 2017-11-22 504 ENSG00000227682 OTTHUMG00000153811 NG_008671 9284928 HGNC:828 +HGNC:829 ATP5F1AP3 ATP synthase F1 subunit alpha pseudogene 3 pseudogene pseudogene Approved 16q22.2 16q22.2 "ATP5AP3|ATP5A1P3" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 3|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3" 1997-05-22 2017-11-22 2017-11-22 2020-04-20 645443 ENSG00000263232 OTTHUMG00000178102 NG_008672 9284928 PGOHUM00000293654 HGNC:829 +HGNC:23563 ATP5F1AP4 ATP synthase F1 subunit alpha pseudogene 4 pseudogene pseudogene Approved 14q23.2 14q23.2 "ATP5AP4|ATP5A1P4" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 4|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4" 2004-11-25 2017-11-22 2017-11-22 2017-11-22 100129782 ENSG00000258877 OTTHUMG00000171112 NG_022842 PGOHUM00000292375 HGNC:23563 +HGNC:37665 ATP5F1AP7 ATP synthase F1 subunit alpha pseudogene 7 pseudogene pseudogene Approved 9q13 09q13 "ATP5A1P9|ATP5A1P7" "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 9|ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7" 2009-12-17 2017-11-22 2017-11-22 2017-11-22 442415 ENSG00000241571 OTTHUMG00000013191 NG_028724 PGOHUM00000304248 HGNC:37665 +HGNC:37666 ATP5F1AP8 ATP synthase F1 subunit alpha pseudogene 8 pseudogene pseudogene Approved 9p12 09p12 ATP5A1P8 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8 2009-12-17 2017-11-22 2017-11-22 2017-11-22 392322 ENSG00000234720 OTTHUMG00000013211 NG_027840 PGOHUM00000303806 HGNC:37666 +HGNC:37668 ATP5F1AP10 ATP synthase F1 subunit alpha pseudogene 10 pseudogene pseudogene Approved 9q21.11 09q21.11 ATP5A1P10 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10 2009-12-17 2017-11-22 2017-11-22 2017-11-22 100132619 ENSG00000277297 OTTHUMG00000188568 NG_028188 PGOHUM00000304300 HGNC:37668 +HGNC:830 ATP5F1B ATP synthase F1 subunit beta protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "ATPSB|ATP5B" ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide "Mitochondrial complex V: ATP synthase subunits|Small nucleolar RNA protein coding host genes|ATPase F1/V1 alpha/A and beta/B subunit family" "644|1835|2053" 1989-06-30 2017-11-22 2017-11-22 2021-04-16 506 ENSG00000110955 OTTHUMG00000170291 uc001slr.4 M27132 NM_001686 CCDS8924 P06576 2687158 MGI:107801 RGD:621368 102910 objectId:797 HGNC:830 "ENST00000262030.8|NM_001686.4" +HGNC:831 ATP5F1BP1 ATP synthase F1 subunit beta pseudogene 1 pseudogene pseudogene Approved 2q11.2 02q11.2 ATPMBL1 "ATPSBL1|ATP5BL1|ATP5BP1" "ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 1|ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1" 1989-06-30 2017-11-22 2017-11-22 2017-11-22 507 ENSG00000231635 OTTHUMG00000153103 NG_021261 7798271 PGOHUM00000240812 HGNC:831 +HGNC:833 ATP5F1C ATP synthase F1 subunit gamma protein-coding gene gene with protein product Approved 10p14 10p14 "ATP5CL1|ATP5C|ATP5C1" ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2020-11-12 509 ENSG00000165629 OTTHUMG00000017639 uc001ijv.4 D16561 NM_005174 "CCDS7081|CCDS31142" P36542 "8168843|8227057" MGI:1261437 RGD:620011 108729 objectId:798 HGNC:833 "ENST00000356708.12|NM_001001973.3" +HGNC:834 ATP5F1CP1 ATP synthase F1 subunit gamma pseudogene 1 pseudogene pseudogene Approved 14q22.2 14q22.2 "ATP5CL2|ATP5C2|ATP5C1P1" "ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 2|ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1" 1993-09-20 2017-11-22 2017-11-22 2017-11-22 645560 ENSG00000224004 OTTHUMG00000029710 NG_004656 8168843 PGOHUM00000247803 HGNC:834 +HGNC:837 ATP5F1D ATP synthase F1 subunit delta protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2021-05-26 513 ENSG00000099624 OTTHUMG00000180143 uc002lrn.4 X63423 NM_001687 CCDS12058 P30049 1531933 MGI:1913293 RGD:621372 603150 objectId:799 HGNC:837 "ENST00000215375.7|NM_001687.5" HGNC:837 +HGNC:838 ATP5F1E ATP synthase F1 subunit epsilon protein-coding gene gene with protein product Approved 20q13.32 20q13.32 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2020-11-12 514 ENSG00000124172 OTTHUMG00000032854 uc002yal.4 AF077045 NM_001001977 CCDS13476 P56381 10727396 MGI:1855697 RGD:621374 606153 267365 objectId:800 HGNC:838 "ENST00000243997.8|NM_006886.4" HGNC:838 +HGNC:839 ATP5F1EP1 ATP synthase F1 subunit epsilon pseudogene 1 pseudogene pseudogene Approved 4q24 04q24 ATP5EP1 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1 1999-09-07 2017-11-22 2017-11-22 2017-11-22 23744 ENSG00000250922 OTTHUMG00000161055 AF277095 NG_002691 10727396 HGNC:839 +HGNC:34026 ATP5F1EP2 ATP synthase F1 subunit epsilon pseudogene 2 pseudogene pseudogene Approved 13q12.2 13q12.2 ATP5EP2 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 2008-03-17 2017-11-22 2017-11-22 2018-04-24 432369 ENSG00000180389 OTTHUMG00000016642 uc001uru.4 EC567419 NR_002162 Q5VTU8 MGI:1855697 HGNC:34026 +HGNC:871 ATP5IF1 ATP synthase inhibitory factor subunit 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "ATPI|IP|ATPIP|MGC1167|MGC8898" "ATPase inhibitor protein|ATP synthase inhibitor protein" ATPIF1 ATPase inhibitory factor 1 Mitochondrial complex V: ATP synthase subunits 644 2000-02-29 2017-11-22 2017-11-22 2020-11-12 93974 ENSG00000130770 OTTHUMG00000003533 uc001bpq.4 AL050386 NM_016311 "CCDS319|CCDS320|CCDS44096" Q9UII2 "10664857|19559621" MGI:1196457 RGD:2181 614981 HGNC:871 "ENST00000335514.10|NM_016311.5" +HGNC:841 ATP5MC1 ATP synthase membrane subunit c locus 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "ATP synthase subunit 9|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit" "ATP5G|ATP5G1" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9)" Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2020-11-18 516 ENSG00000159199 OTTHUMG00000160520 uc002ioh.4 D13118 NM_005175 CCDS11539 P05496 8328972 MGI:107653 RGD:61933 603192 objectId:803 HGNC:841 "ENST00000393366.7|NM_005175.3" +HGNC:19815 ATP5MC1P1 ATP synthase membrane subunit c locus 1 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 "ATP5GP3|ATP5G1P1" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 3|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 1" 2003-01-13 2017-11-22 2017-11-22 2017-11-22 319136 ENSG00000230157 OTTHUMG00000152474 NG_002514 PGOHUM00000247902 HGNC:19815 +HGNC:19817 ATP5MC1P2 ATP synthase membrane subunit c locus 1 pseudogene 2 pseudogene pseudogene Approved 14q12 14q12 "ATP5GP4|ATP5G1P2" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 4|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9) pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 2" 2003-01-13 2017-11-22 2017-11-22 2020-04-07 319137 ENSG00000283016 OTTHUMG00000191501 NG_002515 PGOHUM00000247757 HGNC:19817 +HGNC:39506 ATP5MC1P3 ATP synthase membrane subunit c locus 1 pseudogene 3 pseudogene pseudogene Approved 3q22.3 03q22.3 ATP5G1P3 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 3|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 3" 2011-02-01 2017-11-22 2017-11-22 2017-11-22 646619 ENSG00000242244 OTTHUMG00000159895 NG_022220 PGOHUM00000237788 HGNC:39506 +HGNC:39507 ATP5MC1P4 ATP synthase membrane subunit c locus 1 pseudogene 4 pseudogene pseudogene Approved 3q26.31 03q26.31 ATP5G1P4 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 4|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 4" 2011-02-01 2017-11-22 2017-11-22 2017-11-22 100287755 ENSG00000227440 OTTHUMG00000156866 NG_028935 PGOHUM00000237864 HGNC:39507 +HGNC:39508 ATP5MC1P5 ATP synthase membrane subunit c locus 1 pseudogene 5 pseudogene pseudogene Approved 13q33.3 13q33.3 ATP5G1P5 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 5|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 5" 2011-02-01 2017-11-22 2017-11-22 2017-11-22 390424 ENSG00000227590 OTTHUMG00000017322 NG_023226 PGOHUM00000248682 HGNC:39508 +HGNC:39509 ATP5MC1P6 ATP synthase membrane subunit c locus 1 pseudogene 6 pseudogene pseudogene Approved 18q21.33 18q21.33 ATP5G1P6 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 6|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 6" 2011-02-01 2017-11-22 2017-11-22 2017-11-22 100505704 ENSG00000214318 OTTHUMG00000141308 NG_028974 PGOHUM00000235086 HGNC:39509 +HGNC:39510 ATP5MC1P7 ATP synthase membrane subunit c locus 1 pseudogene 7 pseudogene pseudogene Approved 10q22.1 10q22.1 ATP5G1P7 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 7|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 7" 2011-02-01 2017-11-22 2017-11-22 2017-11-22 100130962 ENSG00000232734 OTTHUMG00000018379 NG_028965 PGOHUM00000238516 HGNC:39510 +HGNC:39511 ATP5MC1P8 ATP synthase membrane subunit c locus 1 pseudogene 8 pseudogene pseudogene Approved 10q22.3 10q22.3 ATP5G1P8 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 8|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) pseudogene 8" 2011-02-01 2017-11-22 2017-11-22 2017-11-22 100288222 ENSG00000224948 OTTHUMG00000018533 NG_028756 PGOHUM00000238847 HGNC:39511 +HGNC:842 ATP5MC2 ATP synthase membrane subunit c locus 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "ATP synthase subunit 9|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit" ATP5G2 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9)" Mitochondrial complex V: ATP synthase subunits 644 1994-07-27 2017-11-22 2017-11-22 2020-11-18 517 ENSG00000135390 OTTHUMG00000133442 uc009znc.4 X69908 NM_005176 "CCDS81694|CCDS31812" Q06055 8328972 MGI:1915192 RGD:620051 603193 objectId:803 HGNC:842 "ENST00000394349.9|NM_005176.7" +HGNC:844 ATP5MC2P1 ATP synthase membrane subunit c locus 2 pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 "ATP5GP1|ATP5G2P1" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 1" 1994-07-27 2017-11-22 2017-11-22 2017-11-22 520 ENSG00000225712 OTTHUMG00000036167 X69909 NG_004659 8328972 PGOHUM00000244407 HGNC:844 +HGNC:19672 ATP5MC2P2 ATP synthase membrane subunit c locus 2 pseudogene 2 pseudogene pseudogene Approved 14q21.3 14q21.3 "ATP5GP2|ATP5G2P2" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 2" 2003-01-13 2017-11-22 2017-11-22 2020-04-07 319119 ENSG00000258401 OTTHUMG00000170869 NG_002500 PGOHUM00000248160 HGNC:19672 +HGNC:42187 ATP5MC2P3 ATP synthase membrane subunit c locus 2 pseudogene 3 pseudogene pseudogene Approved 2q33.1 02q33.1 ATP5G2P3 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 3|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 3" 2011-06-08 2017-11-22 2017-11-22 2017-11-22 100507097 ENSG00000230482 OTTHUMG00000154410 NG_029212 PGOHUM00000241054 HGNC:42187 +HGNC:42188 ATP5MC2P4 ATP synthase membrane subunit c locus 2 pseudogene 4 pseudogene pseudogene Approved Xp11.4 Xp11.4 ATP5G2P4 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 4|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9) pseudogene 4" 2011-06-08 2017-11-22 2017-11-22 2017-11-22 654480 ENSG00000228847 OTTHUMG00000021381 NG_005473 PGOHUM00000241249 HGNC:42188 +HGNC:843 ATP5MC3 ATP synthase membrane subunit c locus 3 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "ATP synthase subunit 9|dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit" ATP5G3 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)" Mitochondrial complex V: ATP synthase subunits 644 1994-08-10 2017-11-22 2017-11-22 2020-11-18 518 ENSG00000154518 OTTHUMG00000132425 uc002uka.5 BC106881 NM_001689 CCDS2263 P48201 7698763 MGI:2442035 RGD:620052 602736 objectId:803 HGNC:843 "ENST00000284727.9|NM_001689.5" +HGNC:846 ATP5ME ATP synthase membrane subunit e protein-coding gene gene with protein product Approved 4p16.3 04p16.3 ATP5I "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E|ATP synthase, H+ transporting, mitochondrial Fo complex subunit E" Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2020-11-12 521 ENSG00000169020 OTTHUMG00000086929 uc003gas.3 AB028624 NM_007100 CCDS3337 P56385 8702853 MGI:106636 RGD:621377 601519 objectId:805 HGNC:846 "ENST00000304312.5|NM_007100.4" +HGNC:848 ATP5MF ATP synthase membrane subunit f protein-coding gene gene with protein product Approved 7q22.1 07q22.1 ATP5JL "F1Fo-ATPase synthase f subunit|ATP synthase f chain, mitochondrial|F1Fo-ATP synthase complex Fo membrane domain f subunit" ATP5J2 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2" Mitochondrial complex V: ATP synthase subunits 644 1999-07-22 2017-11-22 2017-11-22 2020-11-12 9551 ENSG00000241468 OTTHUMG00000154609 uc003uql.4 AF047436 NM_004889 "CCDS5665|CCDS47653|CCDS47654|CCDS34692" P56134 9653160 MGI:1927558 RGD:1596067 619792 objectId:806 HGNC:848 "ENST00000292475.8|NM_004889.5" +HGNC:38844 ATP5MF-PTCD1 ATP5MF-PTCD1 readthrough other readthrough Approved 7q22.1 07q22.1 ATP5J2-PTCD1 ATP5J2-PTCD1 readthrough 2011-02-21 2017-11-22 2017-11-22 2017-11-22 100526740 ENSG00000248919 OTTHUMG00000160779 uc011kiw.3 NM_001198879.1 MGI:1919049 RGD:1311473 HGNC:38844 +HGNC:849 ATP5MFP1 ATP synthase membrane subunit f pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 ATP5J2LP "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2-like pseudogene|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2-like pseudogene|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2-like pseudogene" 2000-05-23 2017-11-22 2017-11-22 2020-04-20 101241877 ENSG00000224421 OTTHUMG00000086613 NG_033132 PGOHUM00000297260 HGNC:849 +HGNC:21540 ATP5MFP2 ATP synthase membrane subunit f pseudogene 2 pseudogene pseudogene Approved 6q21 06q21 bA249L21.4 ATP5J2P2 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2 pseudogene 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 2" 2003-11-26 2017-11-22 2017-11-22 2020-04-07 387107 ENSG00000228834 OTTHUMG00000015333 NG_004672 PGOHUM00000301503 HGNC:21540 +HGNC:21286 ATP5MFP3 ATP synthase membrane subunit f pseudogene 3 pseudogene pseudogene Approved 9q21.2 09q21.2 bA159H20.5 ATP5J2P3 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2 pseudogene 3|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 3|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 3|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 3" 2004-08-25 2017-11-22 2017-11-22 2017-11-22 445573 ENSG00000232851 OTTHUMG00000020052 NG_032710 PGOHUM00000236649 HGNC:21286 +HGNC:32451 ATP5MFP4 ATP synthase membrane subunit f pseudogene 4 pseudogene pseudogene Approved 17q23.3 17q23.3 ATP5J2P4 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 4|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 4|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 4" 2007-08-21 2017-11-22 2017-11-22 2017-11-22 654485 ENSG00000256826 OTTHUMG00000132312 NG_005476 PGOHUM00000294518 HGNC:32451 +HGNC:33611 ATP5MFP5 ATP synthase membrane subunit f pseudogene 5 pseudogene pseudogene Approved 12p13.31 12p13.31 ATP5J2P5 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 5|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 5|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 5" 2007-08-21 2017-11-22 2017-11-22 2017-11-22 654484 ENSG00000256103 OTTHUMG00000168354 NG_005477 PGOHUM00000291193 HGNC:33611 +HGNC:33612 ATP5MFP6 ATP synthase membrane subunit f pseudogene 6 pseudogene pseudogene Approved 15q22.31 15q22.31 ATP5J2P6 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 6|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 6|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2 pseudogene 6" 2007-08-21 2017-11-22 2017-11-22 2017-11-22 654486 ENSG00000261102 OTTHUMG00000172827 NG_005475 PGOHUM00000292992 HGNC:33612 +HGNC:14247 ATP5MG ATP synthase membrane subunit g protein-coding gene gene with protein product Approved 11q23.3 11q23.3 ATP5JG ATP5L "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G" Mitochondrial complex V: ATP synthase subunits 644 2001-09-18 2017-11-22 2017-11-22 2020-11-12 10632 ENSG00000167283 OTTHUMG00000166336 uc001psx.4 AF092124 NM_006476 CCDS8397 O75964 "11230166|11042152" MGI:1351597 RGD:1303259 617473 HGNC:14247 "ENST00000300688.8|NM_006476.5" +HGNC:13213 ATP5MGL ATP synthase membrane subunit g like protein-coding gene gene with protein product Approved 22q13.2 22q13.2 dJ222E13.5 "ATP5K2|ATP5L2" "ATP synthase, H+ transporting, mitochondrial F1F0, subunit g|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, isoform 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G2" 2002-10-30 2017-11-22 2017-11-22 2020-11-12 267020 ENSG00000249222 OTTHUMG00000150890 uc003bda.1 AF092923 NM_001165877 CCDS54534 Q7Z4Y8 "MGI:1351597|MGI:3708709" objectId:808 HGNC:13213 "ENST00000505920.1|NM_001165877.1" +HGNC:13214 ATP5MGP1 ATP synthase membrane subunit g pseudogene 1 pseudogene pseudogene Approved 11q13.1 11q13.1 ATPE5KP1 "ATP5KP1|ATP5LP1" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G, pseudogene 1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 1" 2001-06-25 2017-11-22 2017-11-22 2020-04-07 53411 ENSG00000256280 OTTHUMG00000167842 AF261721 NG_004834 PGOHUM00000242324 HGNC:13214 +HGNC:13215 ATP5MGP2 ATP synthase membrane subunit g pseudogene 2 pseudogene pseudogene Approved 6q22.31 06q22.31 "ATP5KP2|ATP5LP2" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G, pseudogene 2|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 2" 2001-06-25 2017-11-22 2017-11-22 2017-11-22 53410 ENSG00000232362 OTTHUMG00000015491 AF261722 NG_005040 PGOHUM00000243350 HGNC:13215 +HGNC:13216 ATP5MGP3 ATP synthase membrane subunit g pseudogene 3 pseudogene pseudogene Approved 4p15.2 04p15.2 "ATP5KP3|ATP5LP3" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G, pseudogene 3|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 3|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 3|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 3" 2001-06-25 2017-11-22 2017-11-22 2017-11-22 53409 ENSG00000249256 OTTHUMG00000160306 AF261723 NG_005043 PGOHUM00000250702 HGNC:13216 +HGNC:38165 ATP5MGP4 ATP synthase membrane subunit g pseudogene 4 pseudogene pseudogene Approved 4q31.23 04q31.23 ATP5LP4 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 4|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 4|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 4" 2010-04-22 2017-11-22 2017-11-22 2017-11-22 100130396 ENSG00000225176 OTTHUMG00000161453 NG_022979 PGOHUM00000245727 HGNC:38165 +HGNC:38167 ATP5MGP5 ATP synthase membrane subunit g pseudogene 5 pseudogene pseudogene Approved 3q25.2 03q25.2 ATP5LP5 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 5|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 5|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 5" 2010-04-22 2017-11-22 2017-11-22 2017-11-22 100287091 ENSG00000242561 OTTHUMG00000159696 NG_022986 PGOHUM00000237823 HGNC:38167 +HGNC:38168 ATP5MGP6 ATP synthase membrane subunit g pseudogene 6 pseudogene pseudogene Approved 17q25.1 17q25.1 ATP5LP6 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 6|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 6|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 6" 2010-04-22 2017-11-22 2017-11-22 2017-11-22 100462865 ENSG00000267376 OTTHUMG00000180123 NG_022453 PGOHUM00000294221 HGNC:38168 +HGNC:38169 ATP5MGP7 ATP synthase membrane subunit g pseudogene 7 pseudogene pseudogene Approved 17q21.2 17q21.2 ATP5LP7 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 7|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 7|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 7" 2010-04-22 2017-11-22 2017-11-22 2017-11-22 100287964 ENSG00000267189 OTTHUMG00000180638 NG_023016 PGOHUM00000294441 HGNC:38169 +HGNC:38170 ATP5MGP8 ATP synthase membrane subunit g pseudogene 8 pseudogene pseudogene Approved 11p14.1 11p14.1 ATP5LP8 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 8|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 8|ATP synthase, H+ transporting, mitochondrial Fo complex subunit G pseudogene 8" 2010-04-22 2017-11-22 2017-11-22 2020-04-07 100462862 ENSG00000271332 OTTHUMG00000184831 NG_021779 PGOHUM00000242198 HGNC:38170 +HGNC:1188 ATP5MJ ATP synthase membrane subunit j protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "MP68|MLQ|6.8PL" "6.8 kDa mitochondrial proteolipid|6.8-kDa proteolipid with N-terminal sequence Met-Leu-Gln (MLQ)" "C14orf2|ATP5MPL" "chromosome 14 open reading frame 2|ATP synthase membrane subunit 6.8PL" Mitochondrial complex V: ATP synthase subunits 644 1999-07-22 2020-11-16 2020-11-16 2020-11-16 9556 ENSG00000156411 OTTHUMG00000171601 uc059fuw.1 AF054175 NM_001127393 "CCDS9986|CCDS45169" P56378 "9653160|17575325|24330338|25851905" MGI:1917507 RGD:2322889 604573 HGNC:1188 "ENST00000286953.8|NM_004894.3" +HGNC:30889 ATP5MK ATP synthase membrane subunit k protein-coding gene gene with protein product Approved 10q24.33 10q24.33 "MGC14697|bA792D24.4|DAPIT|AGP" Diabetes Associated Protein in Insulin-sensitive Tissues "USMG5|ATP5MD" "upregulated during skeletal muscle growth 5|upregulated during skeletal muscle growth 5 homolog (mouse)|up-regulated during skeletal muscle growth 5 homolog (mouse)|ATP synthase membrane subunit DAPIT" "Mitochondrial complex V: ATP synthase subunits|MicroRNA protein coding host genes" "644|1691" 2004-02-17 2020-11-16 2020-11-16 2021-05-26 84833 ENSG00000173915 OTTHUMG00000018984 uc001kww.4 BC007087 NM_032747 CCDS7548 Q96IX5 "17570365|17575325|22688299|25851905" MGI:1891435 RGD:631426 615204 HGNC:30889 "ENST00000369815.6|NM_001206427.2" +HGNC:31716 ATP5MKP1 ATP5MK pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 "USMG5P1|ATP5MDP1" "up-regulated during skeletal muscle growth 5 homolog (mouse) pseudogene 1|USMG5 pseudogene 1|ATP synthase membrane subunit DAPIT pseudogene 1" 2005-10-06 2021-01-20 2021-01-20 2021-01-20 100288307 ENSG00000231549 OTTHUMG00000021847 NG_012722 PGOHUM00000241853 HGNC:31716 +HGNC:840 ATP5PB ATP synthase peripheral stalk-membrane subunit b protein-coding gene gene with protein product Approved 1p13.2 01p13.2 ATP5F1 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1" Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2020-11-12 515 ENSG00000116459 OTTHUMG00000011745 uc001ebc.4 X60221 NM_001688 CCDS836 P24539 1831354 MGI:1100495 RGD:620041 603270 objectId:802 HGNC:840 "ENST00000369722.8|NM_001688.5" +HGNC:39742 ATP5PBP1 ATP synthase peripheral stalk-membrane subunit b pseudogene 1 pseudogene pseudogene Approved 13q14.3 13q14.3 ATP5F1P1 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 1" 2011-03-24 2017-11-22 2017-11-22 2017-11-22 100422523 ENSG00000224451 OTTHUMG00000016948 NG_024928 PGOHUM00000248596 HGNC:39742 +HGNC:39743 ATP5PBP2 ATP synthase peripheral stalk-membrane subunit b pseudogene 2 pseudogene pseudogene Approved 7q21.3 07q21.3 ATP5F1P2 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 2" 2011-03-24 2017-11-22 2017-11-22 2017-11-22 645973 ENSG00000214342 OTTHUMG00000155560 NG_009430 PGOHUM00000233473 HGNC:39743 +HGNC:39744 ATP5PBP3 ATP synthase peripheral stalk-membrane subunit b pseudogene 3 pseudogene pseudogene Approved 7q36.1 07q36.1 ATP5F1P3 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 3|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 3" 2011-03-24 2017-11-22 2017-11-22 2017-11-22 644333 ENSG00000214003 OTTHUMG00000151466 NG_022578 PGOHUM00000233654 HGNC:39744 +HGNC:39745 ATP5PBP4 ATP synthase peripheral stalk-membrane subunit b pseudogene 4 pseudogene pseudogene Approved 2q23.3 02q23.3 ATP5F1P4 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 4|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 4" 2011-03-24 2017-11-22 2017-11-22 2017-11-22 100422514 ENSG00000214025 OTTHUMG00000153824 NG_023742 PGOHUM00000240988 HGNC:39745 +HGNC:39746 ATP5PBP5 ATP synthase peripheral stalk-membrane subunit b pseudogene 5 pseudogene pseudogene Approved 11q24.1 11q24.1 ATP5F1P5 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 5|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 5" 2011-03-24 2017-11-22 2017-11-22 2017-11-22 100128516 ENSG00000254944 OTTHUMG00000166028 NG_021837 PGOHUM00000242912 HGNC:39746 +HGNC:39747 ATP5PBP6 ATP synthase peripheral stalk-membrane subunit b pseudogene 6 pseudogene pseudogene Approved 6q24.1 06q24.1 ATP5F1P6 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 6|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 6" 2011-03-24 2017-11-22 2017-11-22 2017-11-22 645440 ENSG00000219806 OTTHUMG00000015695 NG_022330 PGOHUM00000243398 HGNC:39747 +HGNC:39748 ATP5PBP7 ATP synthase peripheral stalk-membrane subunit b pseudogene 7 pseudogene pseudogene Approved 16q23.1 16q23.1 ATP5F1P7 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 7|ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1 pseudogene 7" 2011-03-24 2017-11-22 2017-11-22 2017-11-22 124496 ENSG00000261424 OTTHUMG00000177137 NG_022506 PGOHUM00000248937 HGNC:39748 +HGNC:845 ATP5PD ATP synthase peripheral stalk subunit d protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "ATPQ|ATP5JD" ATP5H "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d|ATP synthase, H+ transporting, mitochondrial Fo complex subunit D" Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2020-11-12 10476 ENSG00000167863 OTTHUMG00000179219 uc002jmn.2 AF087135 NM_006356 "CCDS32727|CCDS11712" O75947 11042152 MGI:1918929 RGD:620083 618121 objectId:804 HGNC:845 "ENST00000301587.9|NM_006356.3" +HGNC:31021 ATP5PDP1 ATP synthase peripheral stalk subunit d pseudogene 1 pseudogene pseudogene Approved 15q15.2 15q15.2 HsT18164 ATP5HP1 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d, pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit D pseudogene 1" 2005-11-22 2017-11-22 2017-11-22 2017-11-22 390581 ENSG00000261679 OTTHUMG00000176546 AC009852 NG_004675 PGOHUM00000292928 HGNC:31021 +HGNC:49624 ATP5PDP2 ATP synthase peripheral stalk subunit d pseudogene 2 pseudogene pseudogene Approved 9p24.2 09p24.2 ATP5HP2 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 2|ATP synthase, H+ transporting, mitochondrial Fo complex subunit D pseudogene 2" 2014-01-24 2017-11-22 2017-11-22 2017-11-22 138234 ENSG00000229184 OTTHUMG00000019452 NG_001540 PGOHUM00000235945 HGNC:49624 +HGNC:49625 ATP5PDP3 ATP synthase peripheral stalk subunit d pseudogene 3 pseudogene pseudogene Approved 9p23 09p23 ATP5HP3 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 3|ATP synthase, H+ transporting, mitochondrial Fo complex subunit D pseudogene 3" 2014-01-24 2017-11-22 2017-11-22 2017-11-22 138864 ENSG00000213954 OTTHUMG00000019568 NG_023175 PGOHUM00000236389 HGNC:49625 +HGNC:49626 ATP5PDP4 ATP synthase peripheral stalk subunit d pseudogene 4 pseudogene pseudogene Approved 12q15 12q15 ATP5HP4 "ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 4|ATP synthase, H+ transporting, mitochondrial Fo complex subunit D pseudogene 4" 2014-01-24 2017-11-22 2017-11-22 2017-11-22 246723 ENSG00000234925 OTTHUMG00000169263 NG_001585 PGOHUM00000239512 HGNC:49626 +HGNC:847 ATP5PF ATP synthase peripheral stalk subunit F6 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 CF6 "coupling factor 6|ATP synthase subunit h" "ATP5A|ATP5|ATPM|ATP5J" "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6" Mitochondrial complex V: ATP synthase subunits 644 1993-02-25 2017-11-22 2017-11-22 2020-11-18 522 ENSG00000154723 OTTHUMG00000078442 uc002yls.4 M37104 NM_001685 "CCDS13574|CCDS46637" P18859 "1830479|1825642" MGI:107777 RGD:621376 603152 objectId:807 HGNC:847 "ENST00000284971.8|NM_001003703.2" +HGNC:23933 ATP5PFP1 ATP synthase peripheral stalk subunit F6 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 ATP5JP1 "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1|ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6 pseudogene 1" 2010-02-16 2017-11-22 2017-11-22 2017-11-22 359997 ENSG00000237701 OTTHUMG00000035296 NG_002918 12815422 PGOHUM00000233903 HGNC:23933 +HGNC:850 ATP5PO ATP synthase peripheral stalk subunit OSCP protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "OSCP|ATPO" oligomycin sensitivity conferring protein ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit Mitochondrial complex V: ATP synthase subunits 644 1995-04-12 2017-11-22 2017-11-22 2020-11-12 539 ENSG00000241837 OTTHUMG00000065186 uc002ytl.4 AF088071 NM_001697 CCDS13634 P48047 7490082 MGI:106341 RGD:621379 600828 3.6.3.14 HGNC:850 "ENST00000290299.7|NM_001697.3" +HGNC:54673 ATP5POP1 ATP5PO pseudogene 1 pseudogene pseudogene Approved 2q33.3 02q33.3 2019-11-21 2020-01-21 100132849 ENSG00000159186 NG_021549 +HGNC:868 ATP6AP1 ATPase H+ transporting accessory protein 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "ORF|XAP-3|VATPS1|16A|Ac45|XAP3|CF2" "vacuolar ATPase subunit S1|X-associated protein 3" "ATP6S1|ATP6IP1" "ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1|ATPase, H+ transporting, lysosomal accessory protein 1" 1998-01-23 2003-08-29 2016-02-11 2021-05-26 537 ENSG00000071553 OTTHUMG00000033291 uc004flf.3 D16469 NM_001183 CCDS35451 Q15904 "8733135|8281148" MGI:109629 RGD:620423 300197 HGNC:868 "ENST00000369762.7|NM_001183.6" HGNC:868 +HGNC:25138 ATP6AP1-DT ATP6AP1 divergent transcript non-coding RNA RNA, long non-coding Approved Xq28 Xq28 Divergent transcripts 1990 2021-12-02 2021-12-02 158960 ENSG00000197180 NR_103768 +HGNC:28091 ATP6AP1L ATPase H+ transporting accessory protein 1 like (pseudogene) pseudogene pseudogene Approved 5q14.2 05q14.2 "ATPase, H+ transporting, lysosomal accessory protein 1-like|ATPase H+ transporting accessory protein 1 like" 2009-03-18 2021-04-16 2021-04-16 92270 ENSG00000205464 OTTHUMG00000162558 uc003khv.5 AK022625 NR_169868 CCDS34196 Q52LC2 25867994 MGI:3648665 RGD:1564936 HGNC:28091 +HGNC:18305 ATP6AP2 ATPase H+ transporting accessory protein 2 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "M8-9|APT6M8-9|ATP6M8-9|PRR|RENR" "prorenin receptor|renin receptor|V-ATPase M8.9 subunit" ATP6IP2 "ATPase, H+ transporting, lysosomal interacting protein 2|ATPase, H+ transporting, lysosomal accessory protein 2" 2002-05-23 2003-08-29 2016-02-11 2021-04-16 10159 ENSG00000182220 OTTHUMG00000024103 uc004det.4 AF248966 NM_005765 CCDS14252 O75787 "9556572|11590366" MGI:1917745 RGD:1561269 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP6AP2 300556 118855 HGNC:18305 "ENST00000636580.2|NM_005765.3" HGNC:18305 +HGNC:851 ATP6V1A ATPase H+ transporting V1 subunit A protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "Vma1|VA68" "V-ATPase subunit A|V-type proton ATPase (V-ATPase) catalytic subunit A" "VPP2|ATP6A1|ATP6V1A1" "ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1|ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A" "V-type ATPase subunits|ATPase F1/V1 alpha/A and beta/B subunit family" "415|2053" 1990-07-03 2003-04-25 2016-02-11 2021-05-26 523 ENSG00000114573 OTTHUMG00000159295 uc003eao.4 L09235 NM_001690 CCDS2976 P38606 8463241 MGI:1201780 RGD:1596464 607027 objectId:810 7.1.2.2 HGNC:851 "ENST00000273398.8|NM_001690.4" HGNC:851 +HGNC:853 ATP6V1B1 ATPase H+ transporting V1 subunit B1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "VATB|RTA1B|Vma2" "Renal tubular acidosis with deafness|V-ATPase subunit B1" "VPP3|ATP6B1" "vacuolar proton pump 3|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1" "V-type ATPase subunits|ATPase F1/V1 alpha/A and beta/B subunit family" "415|2053" 1990-07-03 2002-05-10 2016-02-11 2021-05-26 525 ENSG00000116039 OTTHUMG00000129711 uc002shj.4 AF107466 NM_001692 CCDS1912 P15313 "9916796|2527371" MGI:103285 RGD:1310619 LRG_1176|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1176.xml 192132 118872 objectId:811 HGNC:853 "ENST00000234396.10|NM_001692.4" HGNC:853 +HGNC:51118 ATP6V1B1-AS1 ATP6V1B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 Antisense RNAs 1987 2014-07-30 2014-07-30 101927750 ENSG00000239322 OTTHUMG00000153727 NR_110273 ATP6V1B1-AS1 HGNC:51118 +HGNC:854 ATP6V1B2 ATPase H+ transporting V1 subunit B2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "VATB|Vma2|HO57" V-ATPase subunit B2 "VPP3|ATP6B2" "ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2|ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2" "V-type ATPase subunits|ATPase F1/V1 alpha/A and beta/B subunit family" "415|2053" 1990-07-03 2002-05-10 2016-02-11 2021-05-26 526 ENSG00000147416 OTTHUMG00000131073 uc003wzp.4 L35249 NM_001693 CCDS6014 P21281 "2145275|14580332" MGI:109618 RGD:620284 606939 410340 objectId:812 HGNC:854 "ENST00000276390.7|NM_001693.4" HGNC:854 +HGNC:856 ATP6V1C1 ATPase H+ transporting V1 subunit C1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "VATC|Vma5" V-ATPase subunit C1 "ATP6D|ATP6C" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1" V-type ATPase subunits 415 1993-07-27 2002-05-10 2016-02-11 2021-04-15 528 ENSG00000155097 OTTHUMG00000164761 uc003yla.4 X69151 NM_001695 CCDS6296 P21283 "8250920|14580332" MGI:1913585 RGD:1311082 603097 objectId:813 3.6.3.14 HGNC:856 "ENST00000518738.2|NM_001695.5" +HGNC:18264 ATP6V1C2 ATPase H+ transporting V1 subunit C2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "VMA5|ATP6C2" V-ATPase subunit C2 "ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2|ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2" V-type ATPase subunits 415 2002-05-09 2016-02-11 2021-04-15 245973 ENSG00000143882 OTTHUMG00000090459 uc002rat.3 AY039759 NM_144583 "CCDS1674|CCDS42653" Q8NEY4 12384298 MGI:1916025 RGD:1359430 618070 objectId:814 HGNC:18264 "ENST00000272238.9|NM_001039362.2" +HGNC:13527 ATP6V1D ATPase H+ transporting V1 subunit D protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "VATD|VMA8" V-ATPase subunit D ATP6M "ATPase, H+ transporting, lysosomal (vacuolar proton pump)|ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D" V-type ATPase subunits 415 2001-08-01 2002-05-10 2016-02-11 2021-04-15 51382 ENSG00000100554 OTTHUMG00000171244 uc001xjf.4 AF145316 NM_015994 CCDS9780 Q9Y5K8 9442887 MGI:1921084 RGD:735119 609398 objectId:815 HGNC:13527 "ENST00000216442.12|NM_015994.4" +HGNC:857 ATP6V1E1 ATPase H+ transporting V1 subunit E1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "P31|Vma4|ATP6E2" V-ATPase subunit E1 "ATP6E|ATP6V1E" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1" V-type ATPase subunits 415 1993-07-27 2002-06-21 2016-02-11 2021-05-26 529 ENSG00000131100 OTTHUMG00000059320 uc002zmr.3 X76228 NM_001696 "CCDS42977|CCDS42978|CCDS13745" P36543 "8004105|8250920" MGI:894326 RGD:735157 108746 objectId:816 HGNC:857 "ENST00000253413.10|NM_001696.4" HGNC:857 +HGNC:859 ATP6V1E1P1 ATPase H+ transporting V1 subunit E1 pseudogene 1 pseudogene pseudogene Approved 1p34.2 01p34.2 "ATP6EP1|ATP6V1EP1" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD pseudogene 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 1" 1993-07-27 2010-01-05 2016-02-11 2020-04-20 343515 ENSG00000225099 OTTHUMG00000007618 NG_016586 PGOHUM00000244694 HGNC:859 +HGNC:860 ATP6V1E1P2 ATPase H+ transporting V1 subunit E1 pseudogene 2 pseudogene pseudogene Approved 18q11.2 18q11.2 "ATP6EP2|ATP6V1EP2" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD pseudogene 2|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 2|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 2" 1993-07-27 2010-01-05 2016-02-11 2020-04-07 100462844 ENSG00000266549 OTTHUMG00000179527 NG_029856 PGOHUM00000234906 HGNC:860 +HGNC:858 ATP6V1E1P3 ATPase H+ transporting V1 subunit E1 pseudogene 3 pseudogene pseudogene Approved 12q14.2 12q14.2 "ATP6EL1|ATP6V1EL1" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E-like 1|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E-like 1 (pseudogene)|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 3" 1993-10-19 2010-01-05 2016-02-11 2020-04-20 729435 ENSG00000256293 OTTHUMG00000168783 NG_009357 PGOHUM00000239495 HGNC:858 +HGNC:18125 ATP6V1E2 ATPase H+ transporting V1 subunit E2 protein-coding gene gene with protein product Approved 2p21 02p21 "MGC9341|VMA4|ATP6E1" V-ATPase subunit E2 "ATP6EL2|ATP6V1EL2" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2|ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2" V-type ATPase subunits 415 2002-02-20 2002-06-21 2016-02-11 2021-04-15 90423 ENSG00000250565 OTTHUMG00000128819 uc061ivo.1 BC008981 NM_080653 CCDS1826 Q96A05 12036578 MGI:1922165 RGD:1311680 617385 objectId:817 HGNC:18125 "ENST00000522587.6|NM_001318063.2" +HGNC:16832 ATP6V1F ATPase H+ transporting V1 subunit F protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "ATP6S14|VATF|Vma7" V-ATPase subunit F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F V-type ATPase subunits 415 2002-05-09 2016-02-11 2021-04-15 9296 ENSG00000128524 OTTHUMG00000158365 uc003voc.3 D49400 NM_004231 "CCDS5807|CCDS56511" Q16864 "8581736|8621738" MGI:1913394 RGD:621552 607160 objectId:818 3.6.3.14 HGNC:16832 "ENST00000249289.5|NM_004231.4" +HGNC:52392 ATP6V1FNB ATP6V1F neighbor protein-coding gene gene with protein product Approved 7q32.1 07q32.1 2018-04-26 2018-04-26 100130705 ENSG00000272899 OTTHUMG00000158367 NM_001195150 CCDS83222 A0A1B0GUX0 MGI:3644212 RGD:9472094 HGNC:52392 "ENST00000609480.4|NM_001195150.3" +HGNC:864 ATP6V1G1 ATPase H+ transporting V1 subunit G1 protein-coding gene gene with protein product Approved 9q32 09q32 "ATP6GL|Vma10|ATP6G|DKFZp547P234" V-ATPase subunit G1 "ATP6J|ATP6G1" "ATPase, H+ transporting, lysosomal (vacuolar proton pump), member J|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 1|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1" V-type ATPase subunits 415 1999-07-22 2002-05-10 2016-02-11 2021-04-15 9550 ENSG00000136888 OTTHUMG00000021023 uc004bjc.4 AF038954 NM_004888 CCDS6807 O75348 9653160 MGI:1913540 RGD:1310088 607296 objectId:819 HGNC:864 "ENST00000374050.4|NM_004888.4" +HGNC:19816 ATP6V1G1P1 ATPase H+ transporting V1 subunit G1 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 ATP6V1GP1 "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G pseudogene 1|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1" 2003-01-13 2010-01-05 2016-02-11 2020-04-07 319116 ENSG00000270371 OTTHUMG00000184425 NG_001019 PGOHUM00000247913 HGNC:19816 +HGNC:29359 ATP6V1G1P2 ATPase H+ transporting V1 subunit G1 pseudogene 2 pseudogene pseudogene Approved 8q11.1 08q11.1 ATP6V1GP2 "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G pseudogene 2|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 2" 2005-10-06 2010-01-05 2016-02-11 2016-10-05 100128541 ENSG00000253502 OTTHUMG00000164147 AC120036 NG_022387 PGOHUM00000249326 HGNC:29359 +HGNC:37670 ATP6V1G1P3 ATPase H+ transporting V1 subunit G1 pseudogene 3 pseudogene pseudogene Approved 9q34.3 09q34.3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 3 2010-01-05 2016-02-11 2016-02-11 100462838 ENSG00000224662 OTTHUMG00000020944 NG_021680 PGOHUM00000236792 HGNC:37670 +HGNC:37671 ATP6V1G1P4 ATPase H+ transporting V1 subunit G1 pseudogene 4 pseudogene pseudogene Approved 10p11.21 10p11.21 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 4 2010-01-05 2016-02-11 2016-02-11 100462843 ENSG00000233343 OTTHUMG00000017951 NG_022168 PGOHUM00000238722 HGNC:37671 +HGNC:37672 ATP6V1G1P5 ATPase H+ transporting V1 subunit G1 pseudogene 5 pseudogene pseudogene Approved 5q33.1 05q33.1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 5 2010-01-05 2016-02-11 2020-04-07 100462840 ENSG00000270904 OTTHUMG00000184553 NG_021901 PGOHUM00000235812 HGNC:37672 +HGNC:37673 ATP6V1G1P6 ATPase H+ transporting V1 subunit G1 pseudogene 6 pseudogene pseudogene Approved 5q14.1 05q14.1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 6 2010-01-05 2016-02-11 2016-02-11 100462732 ENSG00000249372 OTTHUMG00000162480 NG_021444 PGOHUM00000235668 HGNC:37673 +HGNC:39852 ATP6V1G1P7 ATPase H+ transporting V1 subunit G1 pseudogene 7 pseudogene pseudogene Approved 13q33.1 13q33.1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 7 2011-08-15 2016-02-11 2020-11-17 100874514 ENSG00000230474 OTTHUMG00000017315 NG_032360 HGNC:39852 +HGNC:862 ATP6V1G2 ATPase H+ transporting V1 subunit G2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "Vma10|NG38|Em:AC004181.3" V-ATPase subunit G2 "ATP6G|ATP6G2" "ATPase, H+ transporting, lysosomal (vacuolar proton pump)|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2" V-type ATPase subunits 415 1997-10-10 2002-05-10 2016-02-11 2021-04-15 534 ENSG00000213760 OTTHUMG00000166618 uc021zuc.2 Y14768 NM_130463 "CCDS4699|CCDS56413|CCDS4698" O95670 10202016 MGI:1913487 RGD:1303186 606853 objectId:820 HGNC:862 "ENST00000303892.10|NM_130463.4" +HGNC:41999 ATP6V1G2-DDX39B ATP6V1G2-DDX39B readthrough (NMD candidate) other readthrough Approved 6p21.33 06p21.33 2011-05-31 2013-05-09 2014-11-19 100532737 ENSG00000254870 OTTHUMG00000031200 uc063nav.1 NR_037853.1 HGNC:41999 +HGNC:18265 ATP6V1G3 ATPase H+ transporting V1 subunit G3 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "ATP6G3|Vma10" V-ATPase subunit G3 "ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3|ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3" V-type ATPase subunits 415 2002-05-09 2016-02-11 2021-04-15 127124 ENSG00000151418 OTTHUMG00000035661 uc001gup.4 AY039760 NM_133326 "CCDS1396|CCDS1395|CCDS81414" Q96LB4 9442887 MGI:2450548 RGD:1304635 618071 objectId:821 HGNC:18265 "ENST00000367382.6|NM_001376861.1" +HGNC:18303 ATP6V1H ATPase H+ transporting V1 subunit H protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "CGI-11|SFD|VMA13|SFDalpha|SFDbeta" "vacuolar ATP synthase subunit H|V-ATPase subunit H" "ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H|ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H" "V-type ATPase subunits|Armadillo like helical domain containing" "415|1492" 2002-05-09 2016-02-11 2021-04-15 51606 ENSG00000047249 OTTHUMG00000164231 uc003xrm.5 AF132945 NM_015941 "CCDS6153|CCDS6154" Q9UI12 "9620685|10810093" MGI:1914864 RGD:1562450 608861 objectId:822 HGNC:18303 "ENST00000359530.7|NM_015941.4" +HGNC:865 ATP6V0A1 ATPase H+ transporting V0 subunit a1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "a1|Vph1|Stv1" "vacuolar proton pump subunit 1|V-ATPase subunit a1" "VPP1|ATP6N1|ATP6N1A" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)|ATPase, H+ transporting, lysosomal V0 subunit a isoform 1|ATPase, H+ transporting, lysosomal V0 subunit A1|ATPase, H+ transporting, lysosomal V0 subunit a1" "V-type ATPase subunits|MicroRNA protein coding host genes" "415|1691" 1990-07-03 2002-05-10 2016-02-11 2021-05-26 535 ENSG00000033627 OTTHUMG00000180238 uc002hzs.4 U73006 NM_001130020 "CCDS45683|CCDS11426|CCDS45684" Q93050 7774924 MGI:103286 RGD:68405 192130 objectId:823 HGNC:865 "ENST00000343619.9|NM_001130021.3" HGNC:865 +HGNC:18481 ATP6V0A2 ATPase H+ transporting V0 subunit a2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "TJ6|a2|TJ6s|TJ6M|ATP6a2|J6B7|ATP6N1D|Vph1|Stv1|a2V|RTF" "infantile malignant osteopetrosis|V-ATPase subunit a2|V-type proton ATPase 116 kDa subunit a2|regeneration and tolerance factor" "infantile malignant osteopetrosis|ATPase, H+ transporting, lysosomal V0 subunit a isoform 2|ATPase, H+ transporting, lysosomal V0 subunit A2|ATPase, H+ transporting, lysosomal V0 subunit a2" V-type ATPase subunits 415 2002-05-09 2016-02-11 2021-05-26 23545 ENSG00000185344 OTTHUMG00000168723 uc001ufr.4 AF112972 NM_012463 CCDS9254 Q9Y487 "2247090|18157129" MGI:104855 RGD:621006 611716 159322 objectId:824 HGNC:18481 "ENST00000330342.8|NM_012463.4" HGNC:18481 +HGNC:866 ATP6V0A4 ATPase H+ transporting V0 subunit a4 protein-coding gene gene with protein product Approved 7q34 07q34 "RDRTA2|VPP2|RTADR|a4|Vph1|Stv1" "V-ATPase subunit a4|vacuolar proton pump subunit 2" "ATP6N1B|ATP6N2|RTA1C" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B|ATPase, H+ transporting, lysosomal V0 subunit a isoform 4|ATPase, H+ transporting, lysosomal V0 subunit A4|ATPase, H+ transporting, lysosomal V0 subunit a4" V-type ATPase subunits 415 2000-03-29 2002-05-10 2016-02-11 2021-05-26 50617 ENSG00000105929 OTTHUMG00000157122 uc003vug.4 AF245517 NM_020632 CCDS5849 Q9HBG4 "10577919|10973252" MGI:2153480 RGD:1305055 LRG_1175|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1175.xml 605239 118861 objectId:826 HGNC:866 "ENST00000310018.7|NM_020632.3" HGNC:866 +HGNC:861 ATP6V0B ATPase H+ transporting V0 subunit b protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "VMA16|HATPL" V-ATPase subunit b ATP6F "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD|ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''|ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b" V-type ATPase subunits 415 1997-08-18 2002-05-10 2016-02-11 2021-04-15 533 ENSG00000117410 OTTHUMG00000008298 uc001cld.4 BC000423 NM_004047 "CCDS72772|CCDS505|CCDS41315" Q99437 9653649 MGI:1890510 RGD:1308303 603717 objectId:827 HGNC:861 "ENST00000472174.7|NM_004047.5" +HGNC:855 ATP6V0C ATPase H+ transporting V0 subunit c protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "VATL|Vma3" V-ATPase subunit c "ATPL|ATP6C|ATP6L" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD|ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c" V-type ATPase subunits 415 1991-09-12 2002-05-10 2016-02-11 2021-04-15 527 ENSG00000185883 OTTHUMG00000128865 uc002cqn.4 M62762 NM_001694 CCDS10470 P27449 "1709739|8250920" MGI:88116 RGD:621394 108745 objectId:828 3.6.3.14 HGNC:855 "ENST00000330398.9|NM_001694.4" HGNC:855 +HGNC:31323 ATP6V0CP1 ATPase H+ transporting V0 subunit c pseudogene 1 pseudogene pseudogene Approved 17p13.2 17p13.2 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c (ATP6VOC) pseudogene ATCD1 "ATP synthase subunit C domain containing 1|ATP synthase subunit C domain containing 1 pseudogene|ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 1" 2004-04-06 2011-04-27 2016-02-12 2016-07-22 100132978 ENSG00000230201 OTTHUMG00000132925 NG_009542 PGOHUM00000293945 HGNC:31323 +HGNC:40000 ATP6V0CP2 ATPase H+ transporting V0 subunit c pseudogene 2 pseudogene pseudogene Approved 3q13.13 03q13.13 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 2 2011-04-27 2016-02-12 2016-07-22 106478961 ENSG00000244142 OTTHUMG00000159243 NG_043815 PGOHUM00000299533 HGNC:40000 +HGNC:40001 ATP6V0CP3 ATPase H+ transporting V0 subunit c pseudogene 3 pseudogene pseudogene Approved 6p21.1 06p21.1 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 3 2011-04-27 2016-02-12 2016-07-22 442211 ENSG00000213435 OTTHUMG00000014702 NR_037141 PGOHUM00000301796 HGNC:40001 +HGNC:40002 ATP6V0CP4 ATPase H+ transporting V0 subunit c pseudogene 4 pseudogene pseudogene Approved 1p34.2 01p34.2 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 4 2011-04-27 2016-02-12 2018-04-23 112436690 ENSG00000284138 OTTHUMG00000191967 NG_070714 PGOHUM00000295642 +HGNC:13724 ATP6V0D1 ATPase H+ transporting V0 subunit d1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "ATP6DV|VATX|VPATPD|P39|Vma6" V-ATPase subunit d1 ATP6D "ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D|ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1|ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1|ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1" V-type ATPase subunits 415 2000-11-08 2002-05-10 2016-02-11 2021-04-15 9114 ENSG00000159720 OTTHUMG00000137515 uc002ete.2 X71490 NM_004691 CCDS10838 P61421 8250920 MGI:1201778 RGD:1306159 607028 objectId:829 HGNC:13724 "ENST00000290949.8|NM_004691.5" +HGNC:55268 ATP6V0D1-DT ATP6V0D1 divergent transcript non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 Divergent transcripts 1990 2020-10-01 2020-10-01 101927837 ENSG00000270049 XR_001752246 +HGNC:18266 ATP6V0D2 ATPase H+ transporting V0 subunit d2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "FLJ38708|VMA6" V-ATPase subunit d2 ATP6D2 "ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2|ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2|ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2|ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2" V-type ATPase subunits 415 2002-05-09 2002-05-24 2016-02-11 2021-04-15 245972 ENSG00000147614 OTTHUMG00000163637 uc003ydp.2 AY079172 NM_152565 CCDS6241 Q8N8Y2 12384298 MGI:1924415 RGD:1306900 618072 objectId:830 HGNC:18266 "ENST00000285393.4|NM_152565.1" HGNC:18266 +HGNC:863 ATP6V0E1 ATPase H+ transporting V0 subunit e1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 M9.2 V-ATPase subunit e1 "ATP6H|ATP6V0E" "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 9kD|ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e|ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1" "V-type ATPase subunits|Small nucleolar RNA protein coding host genes" "415|1835" 1999-01-15 2006-10-12 2016-02-11 2021-04-15 8992 ENSG00000113732 OTTHUMG00000130518 uc003mcd.2 Y15286 NM_003945 CCDS4383 O15342 "9556572|14970230" MGI:1328318 RGD:621393 603931 objectId:831 HGNC:863 "ENST00000519374.6|NM_003945.4" +HGNC:41935 ATP6V0E1P1 ATPase H+ transporting V0 subunit e1 pseudogene 1 pseudogene pseudogene Approved 5q31.1 05q31.1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 1 2011-05-19 2016-02-11 2016-02-11 100874502 ENSG00000225364 OTTHUMG00000059840 NG_030340 PGOHUM00000235760 HGNC:41935 +HGNC:41936 ATP6V0E1P2 ATPase H+ transporting V0 subunit e1 pseudogene 2 pseudogene pseudogene Approved 3p22.1 03p22.1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 2 2011-05-19 2016-02-11 2016-02-11 100874503 ENSG00000223513 OTTHUMG00000156188 NG_032379 PGOHUM00000237598 HGNC:41936 +HGNC:41937 ATP6V0E1P3 ATPase H+ transporting V0 subunit e1 pseudogene 3 pseudogene pseudogene Approved 2p22.3 02p22.3 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 3 2011-05-19 2016-02-11 2016-02-11 100133262 ENSG00000238038 OTTHUMG00000152159 NG_029004 PGOHUM00000240617 HGNC:41937 +HGNC:41938 ATP6V0E1P4 ATPase H+ transporting V0 subunit e1 pseudogene 4 pseudogene pseudogene Approved 1p33 01p33 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 pseudogene 4 2011-05-19 2016-02-11 2016-02-11 100874504 ENSG00000227883 OTTHUMG00000007966 NG_032380 PGOHUM00000244706 HGNC:41938 +HGNC:21723 ATP6V0E2 ATPase H+ transporting V0 subunit e2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 V-ATPase subunit e1 "C7orf32|ATP6V0E2L" "chromosome 7 open reading frame 32|ATPase, H+ transporting V0 subunit E isoform 2-like (rat)|ATPase, H+ transporting V0 subunit e2" V-type ATPase subunits 415 2003-07-14 2006-10-12 2016-02-11 2021-04-15 155066 ENSG00000171130 OTTHUMG00000158094 uc003wgp.3 AK057700 NM_145230 CCDS47742 Q8NHE4 MGI:1923502 RGD:1303238 611019 objectId:832 HGNC:21723 "ENST00000425642.3|NM_145230.4" +HGNC:44180 ATP6V0E2-AS1 ATP6V0E2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 ATP6V0E2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 401431 ENSG00000204934 OTTHUMG00000158095 uc003wgn.5 BC028735 NR_027040 ATP6V0E2-AS1 HGNC:44180 +HGNC:869 ATP7A ATPase copper transporting alpha protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "copper pump 1|copper-transporting ATPase 1" MNK "Menkes syndrome|ATPase, Cu++ transporting, alpha polypeptide" ATPase copper transporting 1212 1986-01-01 2016-02-10 2021-05-26 538 ENSG00000165240 OTTHUMG00000021885 uc004ecx.6 L06133 NM_000052 "CCDS75997|CCDS35339" Q04656 10079817 MGI:99400 RGD:2179 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP7A 300011 118879 objectId:852 3.6.3.4 HGNC:869 "ENST00000341514.11|NM_000052.7" HGNC:869 +HGNC:870 ATP7B ATPase copper transporting beta protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "Wilson disease|copper pump 2|copper-transporting ATPase 2" WND "ATPase, Cu++ transporting, beta polypeptide (Wilson disease)|ATPase, Cu++ transporting, beta polypeptide" ATPase copper transporting 1212 1986-01-01 2016-02-10 2021-05-26 540 ENSG00000123191 OTTHUMG00000017406 uc001vfw.4 U11700 NM_000053 "CCDS41892|CCDS81768|CCDS58293|CCDS45049" P35670 "8298641|8298639" MGI:103297 RGD:2180 "Wilson Disease Mutation Database|http://www.medicalgenetics.med.ualberta.ca/wilson/index.php|UMD Locus Specific Databases|http://www.umd.be/" 606882 118882 objectId:853 3.6.3.4 HGNC:870 "ENST00000242839.10|NM_000053.4" HGNC:870 +HGNC:31014 ATP7BP1 ATPase copper transporting beta pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 ATPase, Cu++ transporting, beta polypeptide pseudogene 1 2010-04-20 2016-02-10 2020-04-07 100462825 ENSG00000270855 OTTHUMG00000185042 NG_022482 PGOHUM00000234894 HGNC:31014 +HGNC:13531 ATP8A1 ATPase phospholipid transporting 8A1 protein-coding gene gene with protein product Approved 4p13 04p13 ATPIA "ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1|ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1" ATPase phospholipid transporting 1210 2000-09-20 2016-02-11 2016-06-28 10396 ENSG00000124406 OTTHUMG00000099403 uc003gwr.3 AF067820 NM_006095 "CCDS47049|CCDS3466" Q9Y2Q0 "10198212|9548971" MGI:1330848 RGD:1309619 609542 objectId:854 HGNC:13531 "ENST00000381668.9|NM_006095.2" +HGNC:55392 ATP8A1-DT ATP8A1 divergent transcript non-coding RNA RNA, long non-coding Approved 4p13 04p13 Divergent transcripts 1990 2020-12-21 2020-12-21 119863863 ENSG00000260519 +HGNC:13533 ATP8A2 ATPase phospholipid transporting 8A2 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "ATPIB|ML-1" "ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2|ATPase, aminophospholipid transporter-like, class I, type 8A, member 2|ATPase, aminophospholipid transporter, class I, type 8A, member 2" ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2016-10-05 51761 ENSG00000132932 OTTHUMG00000016611 uc001uqk.4 AL137256 NM_016529 CCDS41873 Q9NTI2 "11015572|19778899" MGI:1354710 RGD:1594597 605870 327294 objectId:855 3.6.3.1 HGNC:13533 "ENST00000381655.7|NM_016529.6" HGNC:13533 +HGNC:39662 ATP8A2P1 ATPase phospholipid transporting 8A2 pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 1 2011-03-18 2016-02-11 2020-01-21 100422505 ENSG00000240800 OTTHUMG00000017970 NG_025483 PGOHUM00000238726 HGNC:39662 +HGNC:39663 ATP8A2P2 ATPase phospholipid transporting 8A2 pseudogene 2 pseudogene pseudogene Approved 13q13.1 13q13.1 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 2 2011-03-18 2016-02-11 2016-02-11 100533851 ENSG00000229800 OTTHUMG00000016698 NG_028886 PGOHUM00000248564 HGNC:39663 +HGNC:42641 ATP8A2P3 ATPase phospholipid transporting 8A2 pseudogene 3 pseudogene pseudogene Approved 13q12.13 13q12.13 ATPase, aminophospholipid transporter, class I, type 8A, member 2 pseudogene 3 2011-08-10 2016-02-11 2016-02-11 100874518 ENSG00000233963 OTTHUMG00000016613 NG_032522 HGNC:42641 +HGNC:3706 ATP8B1 ATPase phospholipid transporting 8B1 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 "ATPIC|PFIC" "FIC1|BRIC|PFIC1" "ATPase, Class I, type 8B, member 1|ATPase, class I, type 8B, member 1|ATPase, aminophospholipid transporter, class I, type 8B, member 1" ATPase phospholipid transporting 1210 1996-12-17 2016-02-11 2021-04-13 5205 ENSG00000081923 OTTHUMG00000180255 uc002lgw.5 AF038007 NM_005603 CCDS11965 O43520 "9500542|7655458" MGI:1859665 RGD:1308488 LRG_1205|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1205.xml 602397 118885 objectId:856 3.6.3.1 HGNC:3706 "ENST00000648908.2|NM_001374385.1" HGNC:3706 +HGNC:56042 ATP8B1-AS1 ATP8B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q21.31 18q21.31 RP11-35G9.3 Antisense RNAs 1987 2021-12-08 2021-12-08 100505549 ENSG00000267040 NR_164148 +HGNC:13534 ATP8B2 ATPase phospholipid transporting 8B2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "ATPID|KIAA1137" "ATPase, class I, type 8B, member 2|ATPase, aminophospholipid transporter, class I, type 8B, member 2" ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2016-06-28 57198 ENSG00000143515 OTTHUMG00000035979 uc001fex.4 AB032963 NM_020452 CCDS41405 P98198 "10574461|11015572" MGI:1859660 RGD:1597731 605867 objectId:857 3.6.3.1 HGNC:13534 "ENST00000368489.6|NM_001370597.1" +HGNC:13535 ATP8B3 ATPase phospholipid transporting 8B3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ATPIK "aminophospholipid translocase ATP8B3|potential phospholipid-transporting ATPase IK" "ATPase, Class I, type 8B, member 3|ATPase, class I, type 8B, member 3|ATPase, aminophospholipid transporter, class I, type 8B, member 3" ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2016-06-28 148229 ENSG00000130270 OTTHUMG00000166189 uc002ltw.4 AA827939 NM_138813 "CCDS54196|CCDS45901" O60423 11015572 MGI:1914581 RGD:1307622 605866 objectId:858 3.6.3.1 HGNC:13535 "ENST00000310127.10|NM_138813.4" +HGNC:13536 ATP8B4 ATPase phospholipid transporting 8B4 (putative) protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "ATPIM|KIAA1939" "ATPase, Class I, type 8B, member 4|ATPase, class I, type 8B, member 4" ATPase phospholipid transporting 1210 2005-01-26 2016-02-11 2016-06-28 79895 ENSG00000104043 OTTHUMG00000172368 uc001zxu.4 AB075819 NM_024837 CCDS32238 Q8TF62 11015572 MGI:1859664 RGD:1306712 609123 objectId:859 3.6.3.1 HGNC:13536 "ENST00000284509.11|NM_024837.4" +HGNC:27245 ATP8B5P ATPase phospholipid transporting 8B5, pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 FetA flippase expressed in testis splicing form A pseudogene ATPase, class I, type 8B, member 5, pseudogene ATPase phospholipid transporting 1210 2010-05-06 2016-02-11 2016-02-11 158381 ENSG00000179766 OTTHUMG00000019862 NR_003581.1 "20210903|19657017" MGI:2444287 HGNC:27245 +HGNC:13540 ATP9A ATPase phospholipid transporting 9A (putative) protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "KIAA0611|ATPIIA" ATPase, class II, type 9A ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2016-06-28 10079 ENSG00000054793 OTTHUMG00000032751 uc002xwg.2 AB014511 NM_006045 CCDS33489 O75110 "9734811|11015572" MGI:1330826 RGD:621421 609126 objectId:860 3.6.3.1 HGNC:13540 "ENST00000338821.6|NM_006045.3" +HGNC:13541 ATP9B ATPase phospholipid transporting 9B (putative) protein-coding gene gene with protein product Approved 18q23 18q23 ATPIIB ATPase, class II, type 9B ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2016-06-28 374868 ENSG00000166377 OTTHUMG00000132898 uc002lmw.2 R51412 NM_198531 "CCDS77202|CCDS12014" O43861 "9548971|11015572" MGI:1354757 RGD:1563006 614446 objectId:861 HGNC:13541 "ENST00000426216.6|NM_198531.5" +HGNC:13542 ATP10A ATPase phospholipid transporting 10A (putative) protein-coding gene gene with protein product Approved 15q12 15q12 "ATPVA|ATPVC|KIAA0566" ATP10C ATP10C "ATPase phospholipid transporting|MicroRNA protein coding host genes" "1210|1691" 2000-09-25 2017-08-08 2017-12-06 57194 ENSG00000206190 OTTHUMG00000171703 uc010ayu.4 AB011138 NM_024490 CCDS32178 O60312 "11015572|25947375" MGI:1330809 RGD:1306150 605855 121487 objectId:862 HGNC:13542 "ENST00000555815.7|NM_024490.4" +HGNC:55434 ATP10A-DT ATP10A divergent transcript non-coding RNA RNA, long non-coding Approved 15q12 15q12 Divergent transcripts 1990 2021-01-14 2021-01-14 105370738 ENSG00000259011 XR_007064544 +HGNC:13543 ATP10B ATPase phospholipid transporting 10B (putative) protein-coding gene gene with protein product Approved 5q34 05q34 "ATPVB|KIAA0715|FLJ21477" ATPase, Class V, type 10B ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2016-06-28 23120 ENSG00000118322 OTTHUMG00000163551 uc003lym.1 AB018258 NM_025153 CCDS43394 O94823 "9872452|11015572" MGI:2442688 RGD:1565126 619791 objectId:863 HGNC:13543 "ENST00000327245.10|NM_025153.3" +HGNC:13549 ATP10D ATPase phospholipid transporting 10D (putative) protein-coding gene gene with protein product Approved 4p12 04p12 "ATPVD|KIAA1487" ATPase, Class V, type 10D ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2016-06-28 57205 ENSG00000145246 OTTHUMG00000160784 uc003gxk.2 AB040920 NM_020453 CCDS3476 Q9P241 12532265 MGI:2450125 RGD:1588541 619815 objectId:864 HGNC:13549 "ENST00000273859.8|NM_020453.4" +HGNC:13552 ATP11A ATPase phospholipid transporting 11A protein-coding gene gene with protein product Approved 13q34 13q34 "ATPIH|ATPIS|KIAA1021" "potential phospholipid-transporting ATPase IH|phospholipid-translocating ATPase" ATPase, Class VI, type 11A ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2016-06-28 23250 ENSG00000068650 OTTHUMG00000017371 uc058yjm.1 AB028944 NM_015205 CCDS32011 P98196 "11015572|26567335" MGI:1354735 RGD:1308688 605868 353241 objectId:865 3.6.3.1 HGNC:13552 "ENST00000375645.8|NM_015205.3" +HGNC:40645 ATP11A-AS1 ATP11A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 ATP11A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2014-11-19 100874205 ENSG00000232684 OTTHUMG00000017370 uc001vsk.5 NR_046661 ATP11A-AS1 HGNC:40645 +HGNC:33793 ATP11AUN ATP11A upstream neighbor lncRNA non-coding RNA RNA, long non-coding Approved 13q34 13q34 "FLJ26443|SMABLO1" small blood protein 1 C13orf35 chromosome 13 open reading frame 35 Long non-coding RNAs with non-systematic symbols 1992 2008-02-21 2014-02-11 2020-11-17 2021-02-15 400165 ENSG00000197595 OTTHUMG00000056478 AK129953 NR_164109 Q6ZP68 HGNC:33793 +HGNC:13553 ATP11B ATPase phospholipid transporting 11B (putative) protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "ATPIF|ATPIR|KIAA0956" ATPase, Class VI, type 11B ATPase phospholipid transporting 1210 2000-09-25 2016-02-11 2016-10-05 23200 ENSG00000058063 OTTHUMG00000158295 uc003flb.4 AF156548 NM_014616 CCDS33896 Q9Y2G3 "10231032|11015572" MGI:1923545 RGD:1561719 605869 objectId:866 HGNC:13553 "ENST00000323116.10|NM_014616.3" +HGNC:55642 ATP11B-DT ATP11B divergent transcript non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 Divergent transcripts 1990 2021-06-25 2021-06-25 105374245 ENSG00000240063 XR_924767 +HGNC:13554 ATP11C ATPase phospholipid transporting 11C protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 "ATPIG|ATPIQ" ATPase, Class VI, type 11C "ATPase phospholipid transporting|MicroRNA protein coding host genes" "1210|1691" 2000-09-25 2016-02-11 2020-04-02 286410 ENSG00000101974 OTTHUMG00000022538 uc004faz.4 AJ580094 NM_173694 "CCDS14668|CCDS35410" Q8NB49 "11015572|26567335" MGI:1859661 RGD:1564481 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATP11C 300516 objectId:867 HGNC:13554 "ENST00000682941.1|NM_001353812.2" +HGNC:13816 ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "HK|H-K-ATPase" "ATPase, Na+K+ transporting, alpha-1 polypeptide-like|potassium-transporting ATPase alpha chain 2|proton pump|non-gastric H(+)/K(+) ATPase alpha subunit|sodium/potassium ATPase, alpha polypeptide-like" ATP1AL1 "ATPase, Na+/K+ transporting, alpha polypeptide-like 1|ATPase, H+/K+ transporting, nongastric, alpha polypeptide" ATPase H+/K+ transporting 1211 2000-11-09 2016-02-11 2019-07-02 479 ENSG00000075673 OTTHUMG00000016588 uc001upp.4 L42558 NM_001676 "CCDS53858|CCDS31948" P54707 "8838794|2842249|25322912" MGI:1926943 RGD:620569 182360 objectId:850 3.6.3.10 HGNC:13816 "ENST00000381946.5|NM_001676.7" +HGNC:24215 ATP13A1 ATPase 13A1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KIAA1825|FLJ31858|CGI-152" cation transporting ATPase ATP13A "ATPase type 13A|ATPase type 13A1" ATPase orphan transporters 1213 2004-02-12 2005-01-12 2016-02-11 2016-02-11 57130 ENSG00000105726 OTTHUMG00000153016 uc002nnh.5 AK056420 NM_020410 CCDS32970 Q9HD20 11347906 MGI:2180801 RGD:1306033 619118 objectId:3155 HGNC:24215 "ENST00000357324.11|NM_020410.3" +HGNC:30213 ATP13A2 ATPase cation transporting 13A2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "HSA9947|CLN12" PARK9 "Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)|ATPase type 13A2|ATPase 13A2" ATPase orphan transporters 1213 2005-01-12 2018-02-27 2021-05-26 23400 ENSG00000159363 OTTHUMG00000002293 uc001baa.3 AL354615 NM_022089 "CCDS175|CCDS44073|CCDS44072" Q9NQ11 "15381061|16964263" MGI:1922022 RGD:1307977 LRG_834|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_834.xml 610513 121493 objectId:3156 HGNC:30213 "ENST00000326735.13|NM_022089.4" HGNC:30213 +HGNC:24113 ATP13A3 ATPase 13A3 protein-coding gene gene with protein product Approved 3q29 03q29 AFURS1 ATPase family homolog up regulated in senescence cells ATPase type 13A3 ATPase orphan transporters 1213 2005-01-12 2016-02-11 2021-05-26 79572 ENSG00000133657 OTTHUMG00000156034 uc062rov.1 AJ306929 NM_024524 CCDS43187 Q9H7F0 11867234 MGI:2685387 RGD:1590881 610232 objectId:3157 HGNC:24113 "ENST00000645319.2|NM_001367549.1" +HGNC:48570 ATP13A3-DT ATP13A3 divergent transcript non-coding RNA RNA, long non-coding Approved 3q29 03q29 LINC00884 long intergenic non-protein coding RNA 884 Divergent transcripts 1990 2013-05-17 2021-07-12 2021-07-12 2021-07-12 401106 ENSG00000233058 OTTHUMG00000156037 NR_033929 LINC00884 HGNC:48570 +HGNC:25422 ATP13A4 ATPase 13A4 protein-coding gene gene with protein product Approved 3q29 03q29 "DKFZp761I1011|FLJ37958" ATPase type 13A4 ATPase orphan transporters 1213 2005-01-12 2016-02-11 2016-02-11 84239 ENSG00000127249 OTTHUMG00000074067 uc003ftd.4 AK095277 NM_032279 CCDS3304 Q4VNC1 "14702039|12975309" MGI:1924456 RGD:1306927 609556 objectId:3158 HGNC:25422 "ENST00000342695.9|NM_032279.4" +HGNC:41095 ATP13A4-AS1 ATP13A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 ATP13A4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2020-04-20 101929198 ENSG00000225473 OTTHUMG00000156102 uc062rmh.1 NR_046726 ATP13A4-AS1 HGNC:41095 +HGNC:31789 ATP13A5 ATPase 13A5 protein-coding gene gene with protein product Approved 3q29 03q29 FLJ16025 ATPase type 13A5 ATPase orphan transporters 1213 2005-01-12 2016-02-11 2016-02-11 344905 ENSG00000187527 OTTHUMG00000156101 uc011bsq.3 AK122613 NM_198505 CCDS33914 Q4VNC0 MGI:2444068 RGD:1306792 619119 objectId:3159 HGNC:31789 "ENST00000342358.9|NM_198505.4" +HGNC:41281 ATP13A5-AS1 ATP13A5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 ATP13A5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874218 ENSG00000236508 OTTHUMG00000156106 uc062rlw.1 NR_046758 ATP13A5-AS1 HGNC:41281 +HGNC:29452 ATP23 ATP23 metallopeptidase and ATP synthase assembly factor homolog protein-coding gene gene with protein product Approved 12q14.1 12q14.1 KUB3 Ku70 binding protein 3 XRCC6BP1 "XRCC6 binding protein 1|ATP23 metallopeptidase and ATP synthase assembly factor homolog (S. cerevisiae)" M76 metallopeptidase family 2108 2006-01-09 2016-02-12 2016-07-04 2021-04-22 91419 ENSG00000166896 OTTHUMG00000170493 uc001sqp.4 AF078164 NM_033276 CCDS41802 Q9Y6H3 "10219089|17135290" MGI:1916984 RGD:1588587 619760 M76.001 HGNC:29452 "ENST00000300145.4|NM_033276.4" +HGNC:18803 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 protein-coding gene gene with protein product Approved 1p33 01p33 "FLJ22351|Atp11p|ATP11" Mitochondrial respiratory chain complex assembly factors 645 2002-07-01 2016-04-25 64756 ENSG00000123472 OTTHUMG00000007988 uc001cqh.5 AK026004 NM_022745 "CCDS57998|CCDS41327|CCDS541|CCDS57997" Q5TC12 11410595 MGI:2180560 RGD:1305417 608917 377752 HGNC:18803 +HGNC:18802 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "Atp12p|ATP12|LP3663|MGC29736" Mitochondrial respiratory chain complex assembly factors 645 2002-07-01 2014-11-18 91647 ENSG00000171953 OTTHUMG00000059354 uc002gse.2 AF052185 NM_145691 CCDS32585 Q8N5M1 "11410595|11997338" MGI:2180561 RGD:1305161 608918 118892 HGNC:18802 "ENST00000474627.8|NM_145691.4" HGNC:18802 +HGNC:27029 ATPSCKMT ATP synthase c subunit lysine N-methyltransferase protein-coding gene gene with protein product Approved 5p15.2 05p15.2 JS-2 FAM173B "family with sequence similarity 173, member B|family with sequence similarity 173 member B" 7BS protein lysine methyltransferases 2056 2008-07-02 2018-12-21 2018-12-21 2018-12-21 134145 ENSG00000150756 OTTHUMG00000161771 uc003jeo.4 NM_199133 "CCDS43301|CCDS58942" Q6P4H8 "29444090|30530489" MGI:1915323 RGD:1560629 618568 HGNC:27029 "ENST00000511437.6|NM_199133.4" +HGNC:882 ATR ATR serine/threonine kinase protein-coding gene gene with protein product Approved 3q23 03q23 "FRP1|SCKL|SCKL1|MEC1" MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae) ataxia telangiectasia and Rad3 related Armadillo like helical domain containing 1492 1998-04-06 2014-06-17 2021-04-13 545 ENSG00000175054 OTTHUMG00000159234 uc003eux.5 U76308 NM_001184 CCDS3124 Q13535 "8978690|8610130" MGI:108028 RGD:1305796 LRG_1403|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1403.xml ATR 601215 118896 objectId:1935 HGNC:882 "ENST00000350721.9|NM_001184.4" HGNC:882 +HGNC:24090 ATRAID all-trans retinoic acid induced differentiation factor protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "HSPC013|p18|APR3" apoptosis-related protein 3 C2orf28 chromosome 2 open reading frame 28 2004-05-10 2012-07-30 2015-12-02 2015-12-02 51374 ENSG00000138085 OTTHUMG00000128405 uc061hlo.1 BC021237 NM_016085 "CCDS46243|CCDS62877" Q6UW56 "17524364|21723284" MGI:1918918 RGD:1311605 619682 HGNC:24090 "ENST00000380171.9|NM_001170795.4" +HGNC:33499 ATRIP ATR interacting protein protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ12343|MGC20625|MGC21482|MGC26740" Armadillo like helical domain containing 1492 2007-06-20 2015-01-28 84126 ENSG00000164053 OTTHUMG00000133532 uc003ctf.3 AF451323 NM_130384 "CCDS59449|CCDS2767|CCDS2768" Q8WXE1 11721054 MGI:1925349 RGD:1626390 606605 318853 HGNC:33499 "ENST00000320211.10|NM_130384.3" HGNC:33499 +HGNC:885 ATRN attractin protein-coding gene gene with protein product Approved 20p13 20p13 "DPPT-L|MGCA" mahogany protein C-type lectin domain containing 1298 1998-10-30 2020-09-17 8455 ENSG00000088812 OTTHUMG00000031746 uc002wim.3 AF034957 NM_139321 "CCDS13053|CCDS13054" O75882 "9736737|8596018" MGI:1341628 RGD:69063 603130 HGNC:885 "ENST00000262919.10|NM_139321.3" +HGNC:29063 ATRNL1 attractin like 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "KIAA0534|FLJ45344|ALP" attractin-like 1 C-type lectin domain containing 1298 2004-03-04 2015-11-23 2016-11-11 26033 ENSG00000107518 OTTHUMG00000019096 uc001lcg.4 AB011106 NM_207303 "CCDS73204|CCDS7592" Q5VV63 9628581 MGI:2147749 RGD:1563485 612869 HGNC:29063 "ENST00000355044.8|NM_207303.4" +HGNC:886 ATRX ATRX chromatin remodeler protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "XH2|XNP" RAD54 homolog (S. cerevisiae) "RAD54|JMS|MRX52" "alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)|Juberg-Marsidi syndrome|mental retardation, X-linked 52|alpha thalassemia/mental retardation syndrome X-linked" RNA helicases 1168 1992-11-27 2019-01-18 2021-05-26 546 ENSG00000085224 OTTHUMG00000022686 uc004ecp.5 U72937 NM_000489 "CCDS14434|CCDS14435" P46100 "7874112|1415255|8503439|8630485" MGI:103067 RGD:619795 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATRX|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ATRX|LRG_1153|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1153.xml" ATRX 300032 118908 3.6.4.12 HGNC:886 "ENST00000373344.11|NM_000489.6" HGNC:886 +HGNC:10548 ATXN1 ataxin 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "D6S504E|ATX1" SCA1 spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) 1986-01-01 2004-08-13 2004-08-12 2021-05-26 6310 ENSG00000124788 OTTHUMG00000014303 uc010jpi.3 X79204 NM_000332 "CCDS87367|CCDS34342" P54253 1582256 MGI:104783 RGD:3624 LRG_863|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_863.xml 601556 118913 HGNC:10548 "ENST00000436367.6|NM_001128164.2" HGNC:10548 +HGNC:40515 ATXN1-AS1 ATXN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 Antisense RNAs 1987 2019-07-24 2019-07-24 101928433 ENSG00000229931 OTTHUMG00000153136 NR_136240 HGNC:40515 +HGNC:33279 ATXN1L ataxin 1 like protein-coding gene gene with protein product Approved 16q22.2 16q22.2 BOAT1 brother of ataxin 1 ataxin 1-like 2007-08-03 2016-01-19 2016-01-19 342371 ENSG00000224470 OTTHUMG00000176872 uc002fbd.3 NM_001137675.2 CCDS45523 P0C7T5 "16121196|17322884|21475249" MGI:3694797 RGD:1561758 614301 HGNC:33279 "ENST00000427980.7|NM_001137675.4" +HGNC:10555 ATXN2 ataxin 2 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 ATX2 trinucleotide repeat containing 13 "SCA2|TNRC13" spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) 1991-08-06 2004-08-13 2004-08-12 2021-05-26 6311 ENSG00000204842 OTTHUMG00000133475 uc001tsj.3 U80749 NM_002973 "CCDS81738|CCDS81739" Q99700 "8358438|9225980" MGI:1277223 RGD:1306637 LRG_864|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_864.xml 601517 118923 HGNC:10555 "ENST00000673436.1|NM_001372574.1" HGNC:10555 +HGNC:51838 ATXN2-AS ATXN2 antisense RNA non-coding RNA RNA, long non-coding Approved 12q24.12 12q24.12 Antisense RNAs 1987 2016-05-12 2021-01-20 102723619 ENSG00000258099 OTTHUMG00000169599 NR_146497 27531668 HGNC:51838 +HGNC:31326 ATXN2L ataxin 2 like protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "A2lp|A2D" ataxin 2-like 2004-08-18 2016-01-19 2016-10-05 11273 ENSG00000168488 OTTHUMG00000097038 uc002dqy.5 NM_007245 "CCDS10640|CCDS10641|CCDS32423|CCDS45451|CCDS10639|CCDS58443|CCDS76850" Q8WWM7 "11784712|14769358" MGI:2446242 RGD:1565868 607931 HGNC:31326 "ENST00000336783.9|NM_007245.4" +HGNC:7106 ATXN3 ataxin 3 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "ATX3|JOS" "SCA3|MJD" Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) MJD deubiquinating enzymes 997 1987-09-11 2004-08-13 2004-08-12 2021-05-26 4287 ENSG00000066427 OTTHUMG00000162212 uc001yac.5 U64820 NM_004993 "CCDS73680|CCDS45154|CCDS53908|CCDS9900|CCDS32143" P54252 8358439 MGI:1099442 RGD:621567 LRG_865|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_865.xml 607047 118928 C86.001 HGNC:7106 "ENST00000644486.2|NM_004993.6" HGNC:7106 +HGNC:24173 ATXN3L ataxin 3 like protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MJDL ataxin 3-like MJD deubiquinating enzymes 997 2004-08-20 2016-01-19 2020-04-20 92552 ENSG00000123594 OTTHUMG00000021146 uc010ned.4 NM_001135995 CCDS48080 Q9H3M9 MGI:1099442 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ATXN3L 300920 469972 C86.002 HGNC:24173 "ENST00000380622.5|NM_001135995.2" +HGNC:10560 ATXN7 ataxin 7 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "OPCA3|ADCAII|SGF73" "Autosomal dominant cerebellar ataxia with retinal degeneration|SAGA associated factor 73 kDa homolog (S. cerevisiae)" SCA7 spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration) SAGA complex 1059 1995-02-22 2004-08-12 2004-08-12 2021-11-08 6314 ENSG00000163635 OTTHUMG00000158763 uc003dlw.5 AJ000517 NM_000333 "CCDS46861|CCDS54603|CCDS43102" O15265 "7647798|10598805|25755283" MGI:2179277 RGD:1562692 LRG_866|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_866.xml 607640 118934 HGNC:10560 "ENST00000674280.1|NM_001377405.1" HGNC:10560 +HGNC:22210 ATXN7L1 ataxin 7 like 1 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "KIAA1218|MGC33190" ATXN7L4 "ataxin 7-like 4|ataxin 7-like 1" 2004-08-18 2016-01-19 2020-04-20 222255 ENSG00000146776 OTTHUMG00000157521 uc003vde.3 AB033044 NM_001318229 "CCDS47683|CCDS34727|CCDS47682" Q9ULK2 15115762 MGI:3584458 RGD:1305730 HGNC:22210 "ENST00000419735.8|NM_020725.2" +HGNC:28713 ATXN7L2 ataxin 7 like 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "MGC46534|FLJ00381" ataxin 7-like 2 2004-08-18 2016-01-19 2016-10-05 127002 ENSG00000162650 OTTHUMG00000011027 uc001dxr.4 BC037582 NM_153340 CCDS30794 Q5T6C5 12477932 MGI:1919772 RGD:1307047 HGNC:28713 "ENST00000683729.1|NM_001350175.2" +HGNC:25416 ATXN7L3 ataxin 7 like 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 DKFZp761G2113 ataxin 7-like 3 SAGA complex 1059 2004-08-18 2016-01-19 2016-10-05 56970 ENSG00000087152 OTTHUMG00000181812 uc002iga.4 AK056002 NM_020218 "CCDS42345|CCDS45697" Q14CW9 15115762 MGI:3036270 RGD:1311493 619010 HGNC:25416 "ENST00000587097.6|NM_001382309.1" +HGNC:55298 ATXN7L3-AS1 ATXN7L3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Antisense RNAs 1987 2020-10-15 2020-10-15 2020-10-15 2020-10-15 101926967 ENSG00000267394 XR_001752903 +HGNC:37931 ATXN7L3B ataxin 7 like 3B protein-coding gene gene with protein product Approved 12q21.1 12q21.1 lnc-SCA7 ataxin 7-like 3B 2010-04-20 2016-01-19 2020-06-18 552889 ENSG00000253719 OTTHUMG00000163936 uc001sxd.5 NM_001136262 CCDS53815 Q96GX2 "25306109|27601583" MGI:1914971 RGD:2301984 615579 HGNC:37931 "ENST00000519948.4|NM_001136262.2" +HGNC:54980 ATXN7L3P1 ATXN7L3 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 2020-05-14 2020-05-14 392485 ENSG00000215168 NG_022608 +HGNC:32925 ATXN8 ataxin 8 protein-coding gene gene with protein product Approved 13q21.33 13q21.33 2006-07-18 2021-11-11 724066 DQ641254 Q156A1 16804541 613289 118939 HGNC:32925 +HGNC:10561 ATXN8OS ATXN8 opposite strand lncRNA non-coding RNA RNA, long non-coding Approved 13q21.33 13q21.33 NCRNA00003 non-protein coding RNA 3 "SCA8|KLHL1AS" "spinocerebellar ataxia 8|kelch-like 1 antisense (Drosophila)|ATXN8 opposite strand (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 1998-04-01 2006-07-18 2018-05-16 2018-05-16 6315 ENSG00000230223 OTTHUMG00000017057 uc010aej.2 AF126749 NR_002717 P0DMR3 "10192387|16804541" 603680 158384 sca8 ATXN8OS HGNC:10561 +HGNC:10549 ATXN10 ataxin 10 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "E46L|FLJ37990|ATX10" SCA10 spinocerebellar ataxia 10 "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 1999-04-16 2004-08-12 2004-08-12 2021-11-05 25814 ENSG00000130638 OTTHUMG00000150451 uc003bgm.3 AK095309 NM_013236 "CCDS14070|CCDS54540" Q9UBB4 "9973298|16498633" MGI:1859293 RGD:621813 611150 118918 HGNC:10549 "ENST00000252934.10|NM_013236.4" HGNC:10549 +HGNC:890 AUH AU RNA binding methylglutaconyl-CoA hydratase protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "AU RNA-binding protein/enoyl-Coenzyme A hydratase|AU RNA binding protein/enoyl-Coenzyme A hydratase|AU RNA binding protein/enoyl-CoA hydratase" 1995-10-02 2016-07-21 2021-05-26 549 ENSG00000148090 OTTHUMG00000020207 uc004arf.5 X79888 NM_001306190 "CCDS78409|CCDS6689" Q13825 "7892223|24598254" MGI:1338011 RGD:1306087 LRG_449|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_449.xml 600529 118941 4.2.1.18 HGNC:890 "ENST00000375731.9|NM_001698.3" HGNC:890 +HGNC:28363 AUNIP aurora kinase A and ninein interacting protein protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "MGC2603|AIBp" C1orf135 chromosome 1 open reading frame 135 2005-07-05 2012-08-07 2012-08-07 2014-11-19 79000 ENSG00000127423 OTTHUMG00000007372 uc001bkw.3 NM_024037 "CCDS266|CCDS72731" Q9H7T9 20596670 MGI:1917135 RGD:1589922 HGNC:28363 "ENST00000374298.4|NM_024037.3" +HGNC:891 AUP1 AUP1 lipid droplet regulating VLDL assembly factor protein-coding gene gene with protein product Approved 2p13.1 02p13.1 ancient ubiquitous protein 1 1996-06-14 2019-01-22 2020-09-17 550 ENSG00000115307 OTTHUMG00000129964 uc002smf.4 NM_181575 CCDS42702 Q9Y679 "8812468|12042322" MGI:107789 RGD:1591777 602434 HGNC:891 "ENST00000377526.4|NM_181575.5" +HGNC:11393 AURKA aurora kinase A protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "BTAK|AurA|STK7|ARK1|PPP1R47|AIK" "protein phosphatase 1, regulatory subunit 47|Aurora-A kinase" "STK15|STK6" "serine/threonine kinase 15| serine/threonine kinase 6" Protein phosphatase 1 regulatory subunits 694 1998-10-02 2003-07-23 2003-07-21 2016-10-05 6790 ENSG00000087586 OTTHUMG00000032796 uc002xxg.2 BC001280 NM_003600 CCDS13451 O14965 "9174055|9771714" MGI:894678 RGD:628895 603072 objectId:1936 HGNC:11393 "ENST00000395915.8|NM_198437.3" HGNC:11393 +HGNC:24114 AURKAIP1 aurora kinase A interacting protein 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "AKIP|AIP|FLJ20608" 2005-07-18 2014-11-18 54998 ENSG00000175756 OTTHUMG00000001413 uc001afc.3 NM_017900 CCDS25 Q9NWT8 12244051 MGI:1913327 RGD:1303211 609183 HGNC:24114 "ENST00000338338.10|NM_017900.3" +HGNC:18611 AURKAP1 aurora kinase A pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 AurAps1 "STK6P|AURKAPS1" serine/threonine kinase 6 pseudogene 2003-07-21 2018-05-23 2020-01-10 6791 ENSG00000213033 OTTHUMG00000037286 BC050630 NR_001587 "9605851|31873123" PGOHUM00000244426 HGNC:18611 +HGNC:18612 AURKAP2 aurora kinase A pseudogene 2 pseudogene pseudogene Approved 10q25.3 10q25.3 STK6LP AURKAPS2 2003-07-21 2018-05-23 2018-05-23 386665 ENSG00000230165 OTTHUMG00000019084 NG_003111 HGNC:18612 +HGNC:11390 AURKB aurora kinase B protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "Aik2|IPL1|AurB|AIM-1|ARK2|STK5|PPP1R48" "aurora-B|aurora-1|protein phosphatase 1, regulatory subunit 48" STK12 serine/threonine kinase 12 "Protein phosphatase 1 regulatory subunits|Chromosomal passenger complex" "694|1338" 1999-01-29 2003-07-23 2003-07-21 2015-09-11 9212 ENSG00000178999 OTTHUMG00000108189 uc002gkm.5 AF004022 NM_004217 "CCDS58514|CCDS82065|CCDS67162|CCDS11134" Q96GD4 9858806 MGI:107168 RGD:621625 604970 objectId:1937 HGNC:11390 "ENST00000585124.6|NM_004217.4" +HGNC:18613 AURKBP1 aurora kinase B pseudogene 1 pseudogene pseudogene Approved 8q23.1 08q23.1 AurBps1 AURKBPS1 2003-07-21 2018-05-23 2020-04-20 644233 ENSG00000230948 NG_022401 PGOHUM00000303351 HGNC:18613 +HGNC:11391 AURKC aurora kinase C protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "AurC|ARK3" STK13 serine/threonine kinase 13 (aurora/IPL1-like) 1998-05-13 2003-07-23 2003-07-21 2021-05-26 6795 ENSG00000105146 OTTHUMG00000183106 uc002qoe.4 NM_003160 "CCDS33128|CCDS46206|CCDS46205" Q9UQB9 9799611 MGI:1321119 RGD:1309573 603495 160048 objectId:1938 HGNC:11391 "ENST00000302804.12|NM_001015878.2" HGNC:11391 +HGNC:14262 AUTS2 activator of transcription and developmental regulator AUTS2 protein-coding gene gene with protein product Approved 7q11.22 07q11.22 "KIAA0442|FBRSL2" autism susceptibility candidate 2 2002-11-20 2019-01-21 2021-05-26 26053 ENSG00000158321 OTTHUMG00000023865 uc003tvw.5 AF326917 NM_001127231 "CCDS47602|CCDS47601|CCDS5539" Q8WXX7 "12160723|25519132" MGI:1919847 RGD:2323959 607270 159134 HGNC:14262 "ENST00000342771.10|NM_015570.4" HGNC:14262 +HGNC:13509 AVEN apoptosis and caspase activation inhibitor protein-coding gene gene with protein product Approved 15q14 15q14 PDCD12 "cell death regulator aven|programmed cell death 12" 2002-09-17 2008-07-07 2016-02-05 2016-10-05 57099 ENSG00000169857 OTTHUMG00000129371 uc001zhj.4 AF283508 NM_020371 CCDS10030 Q9NQS1 10949025 MGI:1921518 RGD:1309928 605265 HGNC:13509 "ENST00000306730.8|NM_020371.3" +HGNC:14188 AVIL advillin protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "p92|FLJ12386|ADVIL|DOC6" Gelsolin/villins 950 2002-09-02 2015-09-11 10677 ENSG00000135407 OTTHUMG00000170461 uc001sqj.4 AF041449 NM_006576 CCDS8959 O75366 "9664034|12034507" MGI:1333798 RGD:620301 613397 HGNC:14188 "ENST00000549994.2|NM_006576.4" +HGNC:28994 AVL9 AVL9 cell migration associated protein-coding gene gene with protein product Approved 7p14.3 07p14.3 KIAA0241 "KIAA0241|AVL9 homolog (S. cerevisiase)" DENN domain containing 504 2006-02-13 2008-10-03 2016-02-03 2016-02-03 23080 ENSG00000105778 OTTHUMG00000152929 uc003tcv.2 D87682 NM_015060 CCDS34613 Q8NBF6 "17229886|22595670" MGI:1926187 RGD:1564615 612927 HGNC:28994 "ENST00000318709.9|NM_015060.3" +HGNC:894 AVP arginine vasopressin protein-coding gene gene with protein product Approved 20p13 20p13 ADH "antidiuretic hormone|neurophysin II|diabetes insipidus|neurohypophyseal|prepro-AVP-NP II|prepro-arginine-vasopressin-neurophysin II|copeptin" ARVP Neuropeptides 1902 1986-01-01 2008-07-31 2021-05-26 551 ENSG00000101200 OTTHUMG00000031733 uc002whu.3 M25647 NM_000490 CCDS13045 P01185 1840604 MGI:88121 RGD:2184 "nndi|http://www.medgen.mcgill.ca/nndi/home.php?select_db=AVP|LRG_715|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_715.xml" 192340 118943 ligandId:2168 HGNC:894 "ENST00000380293.3|NM_000490.5" HGNC:894 +HGNC:30898 AVPI1 arginine vasopressin induced 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "VIP32|PP5395|VIT32" arginine vasopressin-induced 1 2004-04-05 2015-12-04 2015-12-04 60370 ENSG00000119986 OTTHUMG00000018864 uc057vge.1 AF131791 NM_021732 CCDS7470 Q5T686 "8619474|9110174" MGI:1916784 RGD:621721 618537 HGNC:30898 "ENST00000370626.4|NM_021732.3" +HGNC:895 AVPR1A arginine vasopressin receptor 1A protein-coding gene gene with protein product Approved 12q14.2 12q14.2 AVPR1 Arginine vasopressin and oxytocin receptors 259 1992-02-28 2020-09-17 552 ENSG00000166148 OTTHUMG00000169980 uc001sro.3 L25615 NM_000706 CCDS8965 P37288 8106369 MGI:1859216 RGD:2185 600821 objectId:366 HGNC:895 "ENST00000299178.4|NM_000706.5" +HGNC:896 AVPR1B arginine vasopressin receptor 1B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "V1bR|VPR3" "V1B receptor|Vasopressin V3 receptor" AVPR3 Arginine vasopressin and oxytocin receptors 259 1995-07-06 2021-09-17 553 ENSG00000198049 OTTHUMG00000184377 uc001hds.3 D31833 NM_000707 CCDS73015 P47901 "7929452|8586456" MGI:1347010 RGD:61886 600264 objectId:367 HGNC:896 "ENST00000367126.5|NM_000707.5" +HGNC:55832 AVPR1B-DT AVPR1B divergent transcript non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Divergent transcripts 1990 2021-08-02 2021-09-29 105372869 ENSG00000226780 +HGNC:897 AVPR2 arginine vasopressin receptor 2 protein-coding gene gene with protein product Approved Xq28 Xq28 V2R nephrogenic diabetes insipidus "DIR3|DIR" Arginine vasopressin and oxytocin receptors 259 1992-02-28 2008-08-01 2021-05-26 554 ENSG00000126895 OTTHUMG00000024227 uc004fjh.5 Z11687 NM_000054 "CCDS14735|CCDS55539" P30518 1324225 MGI:88123 RGD:2186 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AVPR2|LRG_716|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_716.xml" 300538 118947 objectId:368 HGNC:897 "ENST00000646375.2|NM_000054.7" HGNC:897 +HGNC:23252 AWAT1 acyl-CoA wax alcohol acyltransferase 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 DGAT2L3 diacylglycerol O-acyltransferase 2-like 3 Diacylglycerol O-acyltransferase 2 family 1235 2004-05-28 2009-02-23 2009-02-23 2020-04-02 158833 ENSG00000204195 OTTHUMG00000021773 uc004dxy.4 BC039181 NM_001013579 CCDS35321 Q58HT5 "14970677|15671038" MGI:3588200 RGD:1587163 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DGAT2L3 300924 HGNC:23252 "ENST00000374521.4|NM_001013579.3" +HGNC:23251 AWAT2 acyl-CoA wax alcohol acyltransferase 2 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 MFAT multifunctional O-acyltransferase DGAT2L4 diacylglycerol O-acyltransferase 2-like 4 Diacylglycerol O-acyltransferase 2 family 1235 2004-05-28 2009-02-23 2009-02-23 2020-04-02 158835 ENSG00000147160 OTTHUMG00000021763 uc004dxt.1 BC063698 NM_001002254 CCDS35320 Q6E213 "14970677|16106050|15671038" MGI:3045345 RGD:1565111 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/AWAT2 300925 HGNC:23251 "ENST00000276101.7|NM_001002254.1" +HGNC:26564 AXDND1 axonemal dynein light chain domain containing 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 FLJ32940 C1orf125 chromosome 1 open reading frame 125 2005-06-23 2011-02-18 2011-02-18 2015-03-02 126859 ENSG00000162779 OTTHUMG00000035266 uc001gmo.3 BX647935 NM_144696 CCDS30948 Q5T1B0 14702039 MGI:1924602 RGD:1566124 HGNC:26564 "ENST00000367618.8|NM_144696.6" +HGNC:903 AXIN1 axin 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 PPP1R49 protein phosphatase 1, regulatory subunit 49 Protein phosphatase 1 regulatory subunits 694 1998-09-17 2021-05-26 8312 ENSG00000103126 OTTHUMG00000064930 uc002cgp.3 AF009674 NM_003502 "CCDS10406|CCDS10405" O15169 9230313 MGI:1096327 RGD:620859 AXIN1 603816 469974 HGNC:903 "ENST00000262320.8|NM_003502.4" HGNC:903 +HGNC:904 AXIN2 axin 2 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 "MGC126582|DKFZp781B0869" "conductin|axil" 1998-09-17 2008-08-01 2021-05-26 8313 ENSG00000168646 OTTHUMG00000179353 uc002jfi.4 AF078165 NM_004655 "CCDS11662|CCDS86634" Q9Y2T1 10049590 MGI:1270862 RGD:69259 LRG_296|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_296.xml AXIN2 604025 118954 HGNC:904 "ENST00000307078.10|NM_004655.4" HGNC:904 +HGNC:905 AXL AXL receptor tyrosine kinase protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "UFO|JTK11|Tyro7|ARK" "Receptor tyrosine kinases|Fibronectin type III domain containing|V-set domain containing" "321|555|590" 1992-09-15 2020-09-17 558 ENSG00000167601 OTTHUMG00000182727 uc010ehj.5 M76125 NM_001278599 "CCDS62677|CCDS12575|CCDS12574" P30530 1656220 MGI:1347244 RGD:620028 109135 objectId:1835 2.7.10.1 HGNC:905 "ENST00000301178.9|NM_021913.5" +HGNC:910 AZGP1 alpha-2-glycoprotein 1, zinc-binding protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "ZA2G|ZAG" alpha-2-glycoprotein 1, zinc C1-set domain containing 591 1991-09-12 2006-11-07 2020-09-17 563 ENSG00000160862 OTTHUMG00000023066 uc003ush.4 BC005306 NM_001185 CCDS5680 P25311 2049092 MGI:103163 RGD:2187 194460 HGNC:910 "ENST00000292401.9|NM_001185.4" +HGNC:911 AZGP1P1 AZGP1 pseudogene 1 pseudogene pseudogene Approved 7q22.1 07q22.1 "alpha-2-glycoprotein 1, zinc pseudogene 1|alpha-2-glycoprotein 1, zinc-binding pseudogene 1" 1993-04-22 2019-01-18 2019-01-18 646282 ENSG00000214313 OTTHUMG00000156513 AW995302 NR_036679 "8241150|8307568" HGNC:911 +HGNC:912 AZGP1P2 AZGP1 pseudogene 2 pseudogene pseudogene Approved 7q22.1 07q22.1 "alpha-2-glycoprotein 1, zinc pseudogene 2|alpha-2-glycoprotein 1, zinc-binding pseudogene 2" 1994-09-08 2019-01-18 2019-01-18 401393 ENSG00000214252 OTTHUMG00000157108 NG_008494 "8241150|8307568" HGNC:912 +HGNC:24002 AZI2 5-azacytidine induced 2 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 "NAP1|FLJ21939|AZ2" 2004-07-15 2016-10-05 64343 ENSG00000163512 OTTHUMG00000130573 uc003ceb.5 AC093142 NM_203326 "CCDS2647|CCDS46782|CCDS46783" Q9H6S1 10580148 MGI:1351332 RGD:1310530 609916 HGNC:24002 "ENST00000479665.6|NM_022461.5" +HGNC:16432 AZIN1 antizyme inhibitor 1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "OAZI|ODC1L" ornithine decarboxylase 1-like OAZIN ornithine decarboxylase antizyme inhibitor 2001-08-21 2005-03-21 2005-03-21 2015-08-24 51582 ENSG00000155096 OTTHUMG00000164766 uc003yky.4 AAC25391 NM_001301668 CCDS6295 O14977 "9349715|9110174" MGI:1859169 RGD:61934 607909 HGNC:16432 "ENST00000337198.10|NM_148174.4" +HGNC:29957 AZIN2 antizyme inhibitor 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "ODC-p|ODC1L|KIAA1945|ODCp" ornithine decarboxylase like ADC arginine decarboxylase 2005-06-06 2014-06-10 2014-06-10 2014-11-18 113451 ENSG00000142920 OTTHUMG00000004130 AY050635 NM_001293562 "CCDS76138|CCDS375" Q96A70 "11587527|14738999|17900240" MGI:2442093 RGD:1564776 608353 objectId:1270 4.1.1.19 HGNC:29957 "ENST00000294517.11|NM_052998.4" +HGNC:913 AZU1 azurocidin 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "AZU|CAP37|AZAMP|HBP|NAZC|HUMAZUR" "cationic antimicrobial protein 37|heparin-binding protein|neutrophil azurocidin" Granule associated serine proteases of immune defence 1636 1992-10-21 2008-08-01 2020-09-17 566 ENSG00000172232 OTTHUMG00000187023 uc002lpz.2 X58794 NM_001700 CCDS12044 P20160 1919011 162815 S01.971 HGNC:913 "ENST00000233997.4|NM_001700.5" +HGNC:49098 AZU1P1 azurocidin 1 pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 2013-09-02 2013-09-02 106480244 ENSG00000270444 OTTHUMG00000184719 NG_043843 PGOHUM00000248374 HGNC:49098 +HGNC:914 B2M beta-2-microglobulin protein-coding gene gene with protein product Approved 15q21.1 15q21.1 C1-set domain containing 591 2001-06-22 2021-04-13 567 ENSG00000166710 OTTHUMG00000131247 uc001zuc.4 AB021288 NM_004048 CCDS10113 P61769 MGI:88127 RGD:2189 LRG_1215|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1215.xml B2M 109700 317771 HGNC:914 "ENST00000648006.3|NM_004048.4" HGNC:914 +HGNC:915 B2MR beta-2-microglobulin regulator other unknown Approved 15q13-q15 15q13-q15 2001-06-22 2013-01-25 568 7061176 109710 +HGNC:918 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) protein-coding gene gene with protein product Approved 3q26.1 03q26.1 "beta3Gal-T3|galT3|GLOB|B3GALANT1" "globoside synthase|P antigen synthase" B3GALT3 "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)|UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)" "Beta 3-glycosyltransferases|Blood group antigens" "426|454" 1998-12-01 2006-05-09 2006-06-14 2021-11-17 8706 ENSG00000169255 OTTHUMG00000159064 uc003fdz.4 Y15062 NM_033167 CCDS3193 O75752 "9582303|10993897|24046919" MGI:1349405 RGD:1304797 LRG_820|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_820.xml 603094 2.4.1.79 HGNC:918 "ENST00000320474.10|NM_003781.4" +HGNC:51302 B3GALNT1P1 beta-1,3-N-acetylgalactosaminyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 2p13.3 02p13.3 2014-09-25 2014-09-25 100128857 ENSG00000229948 OTTHUMG00000152687 NG_030146 PGOHUM00000298465 HGNC:51302 +HGNC:28596 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 MGC39558 UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2 Beta 3-glycosyltransferases 426 2005-02-10 2006-06-14 2021-05-26 148789 ENSG00000162885 OTTHUMG00000040468 uc001hxc.4 BC029564 NM_152490 "CCDS60453|CCDS1606" Q8NCR0 14724282 MGI:2145517 RGD:1306946 610194 330631 HGNC:28596 "ENST00000366600.8|NM_152490.5" HGNC:28596 +HGNC:51315 B3GALNT2P1 beta-1,3-N-acetylgalactosaminyltransferase 2 pseudogene 1 pseudogene pseudogene Approved 6q22.33 06q22.33 2014-10-01 2014-10-01 100130402 ENSG00000218725 OTTHUMG00000015551 NG_011850 PGOHUM00000301945 HGNC:51315 +HGNC:916 B3GALT1 beta-1,3-galactosyltransferase 1 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 beta3Gal-T1 "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1|UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 1" Beta 3-glycosyltransferases 426 1998-12-01 2016-04-26 2020-09-17 8708 ENSG00000172318 OTTHUMG00000132163 uc061pgb.1 E07739 NM_020981 CCDS2227 Q9Y5Z6 9582303 MGI:1349403 RGD:1311898 603093 HGNC:916 "ENST00000392690.4|NM_020981.4" +HGNC:40089 B3GALT1-AS1 B3GALT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.3 02q24.3 Antisense RNAs 1987 2019-07-24 2019-07-24 105616981 ENSG00000235335 OTTHUMG00000153961 NR_131227 HGNC:40089 +HGNC:917 B3GALT2 beta-1,3-galactosyltransferase 2 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 beta3Gal-T2 "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2|UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 2" Beta 3-glycosyltransferases 426 1998-12-01 2016-04-26 2020-09-17 8707 ENSG00000162630 OTTHUMG00000035687 uc001gtc.5 Y15060 NM_003783 CCDS1383 O43825 "9582303|9417100" MGI:1349461 RGD:1586615 603018 HGNC:917 "ENST00000367434.5|NM_003783.3" +HGNC:919 B3GALT4 beta-1,3-galactosyltransferase 4 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "beta3Gal-T4|GalT4" ganglioside galactosyltransferase "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4|UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 4" Beta 3-glycosyltransferases 426 1998-12-01 2016-04-26 2020-09-17 8705 ENSG00000235863 OTTHUMG00000031100 uc011jag.2 Y15061 NM_003782 CCDS34425 O96024 9582303 MGI:1859517 RGD:620328 603095 2.4.1.62 HGNC:919 "ENST00000451237.3|NM_003782.4" +HGNC:920 B3GALT5 beta-1,3-galactosyltransferase 5 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "beta3Gal-T5|B3GalT-V|GLCT5|B3T5" "homolog of C. elegans Bt toxin resistance gene bre-5|GlcNAc-beta-1,3-galactosyltransferase 5" "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5|UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 5" Beta 3-glycosyltransferases 426 1999-06-09 2016-04-26 2020-09-17 10317 ENSG00000183778 OTTHUMG00000086725 uc002yyb.3 AB020337 NM_033170 "CCDS74795|CCDS13667" Q9Y2C3 10212226 MGI:2136878 RGD:1306727 604066 HGNC:920 "ENST00000684187.2|NM_001356336.2" +HGNC:16424 B3GALT5-AS1 B3GALT5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 C21orf88 chromosome 21 open reading frame 88 Antisense RNAs 1987 2001-08-24 2014-10-01 2014-10-01 2019-08-08 114041 ENSG00000184809 OTTHUMG00000086722 AF426266 NR_026542 P59052 "12036297|31177837|31338903" B3GALT5-AS1 HGNC:16424 +HGNC:17978 B3GALT6 beta-1,3-galactosyltransferase 6 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 beta3GalT6 beta-1,3-galactosyltransferase-6 "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6|UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6|UDP-Gal:betaGal beta 1,3-galactosyltransferase 6" Beta 3-glycosyltransferases 426 2002-01-09 2016-04-26 2021-05-26 126792 ENSG00000176022 OTTHUMG00000001813 uc001adk.4 AY050570 NM_080605 CCDS13 Q96L58 11551958 MGI:2152819 RGD:1309558 LRG_1261|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1261.xml 615291 356939 HGNC:17978 "ENST00000379198.5|NM_080605.4" HGNC:17978 +HGNC:53652 B3GALT9 beta-1,3-galactosyltransferase 9 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 B3GNT10 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 10 (putative) Beta 3-glycosyltransferases 426 2017-11-29 2020-10-02 2020-10-02 2021-01-28 100288842 ENSG00000214654 OTTHUMG00000020574 NM_001386823 A8MXE2 32886776 MGI:5593812 HGNC:53652 "ENST00000689072.1|NM_001386823.1" +HGNC:921 B3GAT1 beta-1,3-glucuronyltransferase 1 protein-coding gene gene with protein product Approved 11q25 11q25 "GlcAT-P|HNK-1|NK-1" "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1|glucuronosyltransferase P" "CD57|LEU7" CD57 antigen "Beta-1,3-glucuronyltransferases|CD molecules" "423|471" 2000-01-07 2014-07-08 2020-09-17 27087 ENSG00000109956 OTTHUMG00000167180 uc001qhq.4 AB029396 NM_018644 CCDS8500 Q9P2W7 MGI:1924148 RGD:70880 151290 CD57 2.4.1.135 HGNC:921 "ENST00000312527.9|NM_054025.3" +HGNC:27449 B3GAT1-DT B3GAT1 divergent transcript non-coding RNA RNA, long non-coding Approved 11q25 11q25 LOC283177 Divergent transcripts 1990 2020-04-01 2020-12-17 2020-12-17 283177 ENSG00000255545 NR_033852 32216054 +HGNC:922 B3GAT2 beta-1,3-glucuronyltransferase 2 protein-coding gene gene with protein product Approved 6q13 06q13 GlcAT-S "glucuronosyltransferase S|galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2" Beta-1,3-glucuronyltransferases 423 2000-01-07 2014-07-08 2020-09-17 135152 ENSG00000112309 OTTHUMG00000014997 uc003pfv.4 AB075843 NM_080742 CCDS4974 Q9NPZ5 12383500 MGI:2389490 RGD:620903 607497 2.4.1.135 HGNC:922 "ENST00000230053.11|NM_080742.3" +HGNC:923 B3GAT3 beta-1,3-glucuronyltransferase 3 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 GlcAT-I "glucuronosyltransferase I|galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3" beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) Beta-1,3-glucuronyltransferases 423 2000-01-07 2014-07-08 2021-05-26 26229 ENSG00000149541 OTTHUMG00000167685 uc001ntw.3 AB009598 NM_012200 "CCDS76418|CCDS76417|CCDS8025" O94766 9506957 MGI:1919977 RGD:1311968 606374 284146 2.4.1.135 HGNC:923 "ENST00000265471.10|NM_012200.4" HGNC:923 +HGNC:35243 B3GAT3P1 beta-1,3-glucuronyltransferase 3 pseudogene 1 pseudogene pseudogene Approved 3q25.33 03q25.33 PSIGLCAT-I B3GAT3P beta-1,3-glucuronyltransferase 3 pseudogene 2008-10-30 2010-01-19 2010-01-19 2016-10-05 402146 ENSG00000244009 OTTHUMG00000159032 AB049116 NG_005351 11535117 PGOHUM00000238247 HGNC:35243 +HGNC:20207 B3GLCT beta 3-glucosyltransferase protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "B3GTL|B3Glc-T" beta-1,3-glucosyltransferase B3GALTL beta 1,3-galactosyltransferase-like Beta 3-glycosyltransferases 426 2006-03-23 2015-06-04 2015-06-04 2021-05-26 145173 ENSG00000187676 OTTHUMG00000016688 AB101481 NM_194318 CCDS9341 Q6Y288 "12943678|16899492|17032646" MGI:2685903 RGD:1588723 "B3GALTL - Peters' Plus syndrome|http://www.LOVD.nl/B3GALTL|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/B3GALTL" 610308 118958 HGNC:20207 "ENST00000343307.5|NM_194318.4" HGNC:20207 +HGNC:15629 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 protein-coding gene gene with protein product Approved 2p15 02p15 "B3GNT-2|BETA3GNT|B3GN-T2|B3GN-T1" B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 "Beta 3-glycosyltransferases|MicroRNA protein coding host genes" "426|1691" 2001-05-14 2006-04-12 2006-04-12 2017-01-17 10678 ENSG00000170340 OTTHUMG00000129444 uc002sbs.4 AB049584 NM_006577 CCDS1870 Q9NY97 "9892646|11042166" MGI:1889505 RGD:1310077 605581 2.4.1.149 HGNC:15629 "ENST00000301998.5|NM_006577.6" HGNC:15629 +HGNC:51316 B3GNT2P1 B3GNT2 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 pseudogene 1 2014-10-01 2019-01-21 2019-01-21 100422469 ENSG00000229946 OTTHUMG00000021997 NG_026739 HGNC:51316 +HGNC:13528 B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "B3GN-T3|beta3Gn-T3|HP10328|B3GNT-3" "putative type II membrane protein|beta-1,3-N-acetylglucosaminyltransferase bGnT-3|transmembrane protein 3" TMEM3 Beta 3-glycosyltransferases 426 2000-09-20 2016-10-05 10331 ENSG00000179913 OTTHUMG00000183490 uc002nhl.2 AB015630 NM_014256 CCDS12364 Q9Y2A9 "10072769|11042166" MGI:2152535 RGD:1305151 605863 HGNC:13528 "ENST00000318683.7|NM_014256.4" +HGNC:15683 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "B3GN-T4|beta3Gn-T4" Beta 3-glycosyltransferases 426 2001-05-14 2016-10-05 79369 ENSG00000176383 OTTHUMG00000168917 uc001ubx.4 AB049586 NM_030765 "CCDS9227|CCDS81751" Q9C0J1 11042166 MGI:2680208 RGD:1309612 605864 HGNC:15683 "ENST00000324189.5|NM_030765.4" +HGNC:15684 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "B3GN-T5|beta3Gn-T5" lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase Beta 3-glycosyltransferases 426 2001-05-14 2016-10-05 84002 ENSG00000176597 OTTHUMG00000158436 uc003flk.3 AB045278 NM_032047 CCDS3244 Q9BYG0 11283017 MGI:2137302 RGD:70955 615333 2.4.1.206 HGNC:15684 "ENST00000326505.4|NM_032047.5" +HGNC:24141 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 B3Gn-T6 core 3 synthase Beta 3-glycosyltransferases 426 2006-04-12 2015-02-23 2016-10-05 192134 ENSG00000198488 OTTHUMG00000181633 uc031xwa.2 AB073740 NM_138706 CCDS53681 Q6ZMB0 11821425 MGI:3039603 RGD:1310926 615315 HGNC:24141 "ENST00000622824.1|NM_138706.5" +HGNC:18811 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 beta3GnT7 Beta 3-glycosyltransferases 426 2002-06-20 2016-10-05 93010 ENSG00000156966 OTTHUMG00000153880 uc002vrs.4 AK000770 NM_145236 CCDS46540 Q8NFL0 12061784 MGI:2384394 RGD:1310580 615313 HGNC:18811 "ENST00000287590.6|NM_145236.3" +HGNC:24139 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "BGALT15|beta3Gn-T8" B3GALT7 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 7 Beta 3-glycosyltransferases 426 2004-04-20 2006-03-14 2006-03-14 2016-10-05 374907 ENSG00000177191 OTTHUMG00000182749 uc002oqs.3 AY277592 NM_198540 CCDS12582 Q7Z7M8 15486459 MGI:2385269 RGD:1305374 615357 HGNC:24139 "ENST00000691102.1|NM_001385648.2" +HGNC:28714 B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 MGC4655 Beta 3-glycosyltransferases 426 2008-08-18 2015-08-24 84752 ENSG00000237172 OTTHUMG00000173315 uc002erf.4 BC012191 NM_033309 CCDS45509 Q6UX72 12975309 MGI:2142841 RGD:1310170 HGNC:28714 "ENST00000449549.4|NM_033309.3" +HGNC:21727 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 B3GNT8 Glycosyltransferase family 2 428 2003-07-17 2004-01-14 2017-02-20 2017-02-20 146712 ENSG00000175711 OTTHUMG00000177788 uc002kgg.1 AY634364 NM_001009905 CCDS82232 Q67FW5 MGI:2441705 RGD:1359497 615337 HGNC:21727 "ENST00000320865.4|NM_001009905.3" +HGNC:51317 B3GNTL1P1 B3GNTL1 pseudogene 1 pseudogene pseudogene Approved 5q11.2 05q11.2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 pseudogene 1 2014-10-01 2019-01-21 2019-01-21 106481968 ENSG00000251237 OTTHUMG00000162172 NG_045397 PGOHUM00000300948 HGNC:51317 +HGNC:51318 B3GNTL1P2 B3GNTL1 pseudogene 2 pseudogene pseudogene Approved 6p12.3 06p12.3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 pseudogene 2 2014-10-01 2019-01-21 2019-01-21 106480419 ENSG00000271328 OTTHUMG00000184538 NG_043195 PGOHUM00000301806 HGNC:51318 +HGNC:4117 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 beta1-4GalNAc-T GD2 synthase, GM2 synthase "GALGT|SPG26" "UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)|UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1|spastic paraplegia 26" Beta 4-glycosyltransferases 425 1998-01-29 2006-01-08 2016-02-22 2021-05-26 2583 ENSG00000135454 OTTHUMG00000170190 uc001spg.3 M83651 NM_001478 "CCDS61170|CCDS8950|CCDS61171" Q00973 "1601877|23746551" MGI:1342057 RGD:620490 601873 358571 2.4.1.92 HGNC:4117 "ENST00000341156.9|NM_001478.5" HGNC:4117 +HGNC:24136 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "Sda|Cad" GALGT2 UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase Beta 4-glycosyltransferases 425 2004-02-20 2006-01-08 2016-02-22 2016-10-05 124872 ENSG00000167080 OTTHUMG00000161307 uc002ion.3 AJ517770 NM_153446 "CCDS54139|CCDS11544|CCDS54140" Q8NHY0 "8782649|12678917" MGI:1342058 RGD:1592405 111730 2.4.1.- HGNC:24136 "ENST00000393354.7|NM_001159387.2" +HGNC:51319 B4GALNT2P1 B4GALNT2 pseudogene 1 pseudogene pseudogene Approved 17q21.32 17q21.32 beta-1,4-N-acetyl-galactosaminyltransferase 2 pseudogene 1 2014-10-01 2019-01-21 2019-01-21 106481717 ENSG00000248883 OTTHUMG00000161236 NG_043355 PGOHUM00000294471 HGNC:51319 +HGNC:24137 B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "B4GalNac-T3|FLJ16224|FLJ40362" Beta 4-glycosyltransferases 425 2006-01-08 2016-02-22 2016-02-22 283358 ENSG00000139044 OTTHUMG00000129283 uc001qii.2 AB089940 NM_173593 CCDS8504 Q6L9W6 12966086 MGI:3041155 RGD:1561056 612220 2.4.1.- HGNC:24137 "ENST00000266383.10|NM_173593.4" +HGNC:26315 B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ25045|NGalNAc-T1" N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase Beta 4-glycosyltransferases 425 2006-01-08 2016-02-22 2016-02-22 338707 ENSG00000182272 OTTHUMG00000119075 uc001lpb.4 AB089939 NM_178537 CCDS7694 Q76KP1 15044014 MGI:2652891 RGD:1310052 618560 "2.4.1.244|2.4.1.92" HGNC:26315 "ENST00000329962.11|NM_178537.5" +HGNC:924 B4GALT1 beta-1,4-galactosyltransferase 1 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 beta4Gal-T1 GGTB2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 Beta 4-glycosyltransferases 425 2001-06-22 2016-03-15 2021-05-26 2683 ENSG00000086062 OTTHUMG00000019764 uc003zsg.3 X14085 NM_001497 CCDS6535 P15291 9597550 MGI:95705 RGD:620900 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 137060 118962 "2.4.1.133|2.4.1.38" HGNC:924 "ENST00000379731.5|NM_001497.4" HGNC:924 +HGNC:49910 B4GALT1-AS1 B4GALT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p21.1 09p21.1 Antisense RNAs 1987 2014-03-21 2018-08-03 101929639 ENSG00000233554 OTTHUMG00000019763 NR_108108 26315939 B4GALT1-AS1 HGNC:49910 +HGNC:925 B4GALT2 beta-1,4-galactosyltransferase 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 beta4Gal-T2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 Beta 4-glycosyltransferases 425 1998-12-02 2016-03-15 2020-09-17 8704 ENSG00000117411 OTTHUMG00000008296 uc001clg.4 AF038660 NM_003780 "CCDS506|CCDS55596" O60909 "9405390|9597550" MGI:1858493 RGD:1305358 604013 2.4.1.38 HGNC:925 "ENST00000372324.6|NM_003780.5" +HGNC:926 B4GALT3 beta-1,4-galactosyltransferase 3 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 beta4Gal-T3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 Beta 4-glycosyltransferases 425 1998-12-02 2016-03-15 2020-09-17 8703 ENSG00000158850 OTTHUMG00000034348 uc001fyr.3 BC006099 NM_003779 CCDS1222 O60512 "9405390|9597550" MGI:1928767 RGD:1359221 604014 HGNC:926 "ENST00000319769.10|NM_003779.4" +HGNC:927 B4GALT4 beta-1,4-galactosyltransferase 4 protein-coding gene gene with protein product Approved 3q13.32 03q13.32 beta4Gal-T4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 Beta 4-glycosyltransferases 425 1998-12-02 2016-03-15 2020-09-17 8702 ENSG00000121578 OTTHUMG00000159358 uc003eci.4 AF022367 NM_003778 CCDS2986 O60513 "9597550|9792633" MGI:1928387 RGD:1307880 604015 2.4.1.275 HGNC:927 "ENST00000393765.7|NM_003778.4" +HGNC:40090 B4GALT4-AS1 B4GALT4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.32 03q13.32 B4GALT4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2016-10-05 100874201 ENSG00000240254 OTTHUMG00000159385 uc062mtc.1 NR_046574 B4GALT4-AS1 HGNC:40090 +HGNC:928 B4GALT5 beta-1,4-galactosyltransferase 5 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 beta4GalT-V beta4-GalT IV UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 Beta 4-glycosyltransferases 425 1999-03-15 2016-03-15 2020-09-17 9334 ENSG00000158470 OTTHUMG00000033086 uc002xuu.5 AB004550 NM_004776 CCDS13420 O43286 "9597550|9435216" MGI:1927169 RGD:1310062 604016 "2.4.1.38|2.4.1.90" HGNC:928 "ENST00000371711.4|NM_004776.4" +HGNC:929 B4GALT6 beta-1,4-galactosyltransferase 6 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 beta4GalT-VI UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 Beta 4-glycosyltransferases 425 1999-03-15 2016-03-15 2020-09-17 9331 ENSG00000118276 OTTHUMG00000131980 uc002kwz.5 AF038664 NM_004775 "CCDS11900|CCDS82245" Q9UBX8 "9597550|12180132" MGI:1928380 RGD:71046 604017 469976 HGNC:929 "ENST00000306851.10|NM_004775.5" +HGNC:930 B4GALT7 beta-1,4-galactosyltransferase 7 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "XGALT-1|beta4Gal-T7" galactosyltransferase I xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 Beta 4-glycosyltransferases 425 1999-12-07 2016-03-15 2021-05-26 11285 ENSG00000027847 OTTHUMG00000130851 uc003mhy.4 AB028600 NM_007255 CCDS4429 Q9UBV7 "10438455|10473568|15211654|24052259" MGI:2384987 RGD:1309214 604327 118966 2.4.1.133 HGNC:930 "ENST00000029410.10|NM_007255.3" HGNC:930 +HGNC:15685 B4GAT1 beta-1,4-glucuronyltransferase 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "IGnT|iGAT|BETA3GNTI|B3GN-T1" N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase "B3GNT6|B3GNT1" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6|UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1" 2001-05-22 2014-12-17 2014-12-17 2021-11-17 11041 ENSG00000174684 OTTHUMG00000167082 AF029893 NM_006876 CCDS8136 O43505 "9405606|25279697|25279699" MGI:1919680 RGD:1309541 605517 332043 2.4.1.- HGNC:15685 "ENST00000311181.5|NM_006876.3" HGNC:15685 +HGNC:56070 B4GAT1-DT B4GAT1 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Divergent transcripts 1990 2021-12-13 2021-12-13 102724064 ENSG00000255468 NR_135761 +HGNC:24123 B9D1 B9 domain containing 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "B9|EPPB9|MKS9|MKSR-1" endothelial precursor protein B9 B9 protein domain 1 "B9 domain containing|MKS complex|MicroRNA protein coding host genes" "1535|1545|1691" 2007-08-21 2016-05-16 2021-05-26 27077 ENSG00000108641 OTTHUMG00000059586 uc002gvk.5 BC002944 NM_015681 "CCDS82086|CCDS82088|CCDS82087|CCDS11205|CCDS86584|CCDS82089" Q9UPM9 21493627 MGI:1351471 RGD:1305522 LRG_686|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_686.xml 614144 270354 HGNC:24123 "ENST00000261499.11|NM_015681.6" HGNC:24123 +HGNC:28636 B9D2 B9 domain containing 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "MGC4093|MKS10|MKSR-2" B9 protein domain 2 "B9 domain containing|MKS complex" "1535|1545" 2007-08-21 2017-08-07 2021-05-26 80776 ENSG00000123810 OTTHUMG00000182758 uc002oqj.3 BC004157 NM_030578 CCDS12579 Q9BPU9 21763481 MGI:2387643 RGD:1566122 611951 279753 HGNC:28636 "ENST00000243578.8|NM_030578.4" HGNC:28636 +HGNC:14333 BAALC BAALC binder of MAP3K1 and KLF4 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 BAALC, MEKK1 and KLF4 binding "brain and acute leukemia, cytoplasmic|BAALC, MAP3K1 and KLF4 binding" MicroRNA protein coding host genes 1691 2001-01-26 2019-01-25 2019-01-25 79870 ENSG00000164929 OTTHUMG00000164782 uc003yld.4 AF363578 NM_001024372 "CCDS6297|CCDS47906" Q8WXS3 "11707601|26050649" MGI:1928704 RGD:628703 606602 HGNC:14333 "ENST00000309982.10|NM_024812.3" +HGNC:50461 BAALC-AS1 BAALC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 "lncFZD6|FZD6-DT" FZD6 divergent transcript Antisense RNAs 1987 2014-04-30 2018-03-16 100499183 ENSG00000247081 OTTHUMG00000164798 NR_109954 29535420 BAALC-AS1 HGNC:50461 +HGNC:28595 BAALC-AS2 BAALC antisense RNA 2 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 MGC39526 "C8orf56|BAALCOS" "chromosome 8 open reading frame 56|BAALC opposite strand" Antisense RNAs 1987 2005-09-02 2014-10-03 2014-10-03 2014-10-03 157556 ENSG00000236939 OTTHUMG00000164781 BC029562 NR_027071 P0C853 12477932 BAALC-AS2 HGNC:28595 +HGNC:932 BAAT bile acid-CoA:amino acid N-acyltransferase protein-coding gene gene with protein product Approved 9q31.1 09q31.1 BAT glycine N-choloyltransferase "bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)|bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)" 1996-03-13 2015-11-11 2020-09-17 570 ENSG00000136881 OTTHUMG00000020377 uc010mtd.3 L34081 NM_001701 CCDS6752 Q14032 MGI:106642 RGD:2190 602938 244706 S09.A50 2.3.1.65 HGNC:932 "ENST00000259407.7|NM_001701.4" HGNC:932 +HGNC:25008 BABAM1 BRISC and BRCA1 A complex member 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ20571|HSPC142|NBA1|MERIT40" "Mediator of Rap80 Interactions and Targeting 40 kD|new component of the BRCA1 A complex" C19orf62 chromosome 19 open reading frame 62 "BRCA1 A complex|BRISC complex" "1328|1375" 2007-05-03 2011-01-31 2011-02-21 2014-11-18 29086 ENSG00000105393 OTTHUMG00000182755 uc002nfu.5 AK000578 NM_014173 "CCDS74310|CCDS46012" Q9NWV8 11042152 MGI:1915501 RGD:1359516 612766 HGNC:25008 "ENST00000598188.6|NM_014173.4" +HGNC:1106 BABAM2 BRISC and BRCA1 A complex member 2 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "BRCC45|BRCC4" BRCA1/BRCA2-containing complex, subunit 4 BRE brain and reproductive organ-expressed (TNFRSF1A modulator) "BRCA1 A complex|BRISC complex|MicroRNA protein coding host genes" "1328|1375|1691" 1999-04-23 2017-03-30 2017-03-30 2020-09-17 9577 ENSG00000158019 OTTHUMG00000097831 uc002rlu.4 AF015767 NM_001261840 "CCDS1763|CCDS1764|CCDS1765" Q9NXR7 "9737713|28333135|27001068" MGI:1333875 RGD:735111 610497 HGNC:1106 "ENST00000379624.6|NM_199191.3" +HGNC:44171 BABAM2-AS1 BABAM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.2 02p23.2 BRE-AS1 "BRE antisense RNA 1 (non-protein coding)|BRE antisense RNA 1" Antisense RNAs 1987 2012-06-30 2019-01-04 2019-01-04 2019-01-04 100302650 BC014088 NR_028308 28052243 BRE-AS1 HGNC:44171 +HGNC:933 BACE1 beta-secretase 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 BACE "beta-site APP-cleaving enzyme|beta-site APP-cleaving enzyme 1" Peptidase family A1 1928 1999-10-29 2004-04-02 2016-05-16 2020-09-17 23621 ENSG00000186318 OTTHUMG00000160636 uc001pqz.4 AF190725 NM_001207048 "CCDS8383|CCDS44741|CCDS44740|CCDS44739|CCDS55786|CCDS55787" P56817 10531052 MGI:1346542 RGD:2191 604252 A01.004 objectId:2330 HGNC:933 "ENST00000313005.11|NM_012104.6" +HGNC:37125 BACE1-AS BACE1 antisense RNA non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 "FJ573250|NCRNA00177|BACE1-AS1" non-protein coding RNA 177 BACE1AS BACE1 antisense RNA (non-protein coding) Antisense RNAs 1987 2009-07-15 2010-11-03 2012-08-15 2018-08-15 100379571 ENSG00000278768 OTTHUMG00000188154 uc058htm.1 NR_037803 "18587408|21785702" MGI:4414956 614263 BACE1AS BACE1-AS HGNC:37125 +HGNC:934 BACE2 beta-secretase 2 protein-coding gene gene with protein product Approved 21q22.2-q22.3 21q22.2-q22.3 "CEAP1|DRAP|ALP56" memapsin 1 AEPLC beta-site APP-cleaving enzyme 2 Peptidase family A1 1928 2000-05-23 2018-05-09 2020-09-17 25825 ENSG00000182240 OTTHUMG00000086742 uc002yyw.5 AF117892 NM_012105 "CCDS13669|CCDS13668|CCDS13670" Q9Y5Z0 "10965118|10830953" MGI:1860440 RGD:1303241 605668 A01.041 objectId:2331 3.4.23.45 HGNC:934 "ENST00000330333.11|NM_012105.5" +HGNC:16024 BACE2-IT1 BACE2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 PRED43 "C21orf75|NCRNA00228" "chromosome 21 open reading frame 75|non-protein coding RNA 228|BACE2 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2002-11-26 2011-08-11 2015-02-25 2015-02-25 282569 ENSG00000224388 OTTHUMG00000086745 uc062agy.1 BACE2-IT1 +HGNC:935 BACH1 BTB domain and CNC homolog 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "BACH-1|BTBD24" BTB and CNC homology 1, basic leucine zipper transcription factor 1 "Basic leucine zipper proteins|BTB domain containing" "506|861" 1998-05-14 2016-01-28 2020-09-17 571 ENSG00000156273 OTTHUMG00000078878 uc061zlj.1 AF026200 NM_206866 CCDS13585 O14867 "9544839|9479503" MGI:894680 RGD:1306693 602751 HGNC:935 "ENST00000286800.8|NM_001186.4" +HGNC:40008 BACH1-AS1 BACH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 BACH1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-28 2012-08-15 2014-11-19 106478962 ENSG00000232118 OTTHUMG00000081874 uc061zln.1 BACH1-AS1 +HGNC:40006 BACH1-IT1 BACH1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 BACH1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-04-28 2015-02-25 2015-02-25 ENSG00000248476 OTTHUMG00000078881 uc061zlk.1 AF317902 BACH1-IT1 +HGNC:40007 BACH1-IT2 BACH1 intronic transcript 2 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 BACH1 intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2011-04-28 2015-02-25 2015-02-25 100874322 ENSG00000228817 OTTHUMG00000078880 uc061zlq.1 NR_046564 BACH1-IT2 HGNC:40007 +HGNC:16455 BACH1-IT3 BACH1 intronic transcript 3 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 C21orf8 "chromosome 21 open reading frame 8|BACH1 intronic transcript 3 (non-protein coding)" Intronic transcripts 1989 2001-08-24 2008-09-04 2015-02-25 2015-02-25 54147 ENSG00000234293 OTTHUMG00000078874 uc061zlr.1 BX100223 NR_146594 BACH1-IT3 HGNC:16455 +HGNC:14078 BACH2 BTB domain and CNC homolog 2 protein-coding gene gene with protein product Approved 6q15 06q15 BTBD25 BTB and CNC homology 1, basic leucine zipper transcription factor 2 "Basic leucine zipper proteins|BTB domain containing" "506|861" 2001-04-27 2016-01-28 2016-01-28 60468 ENSG00000112182 OTTHUMG00000015216 uc003pnw.4 AL121787 NM_021813 CCDS5026 Q9BYV9 "10949928|12829606" MGI:894679 RGD:1562865 605394 HGNC:14078 "ENST00000257749.9|NM_021813.4" +HGNC:936 BAD BCL2 associated agonist of cell death protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "BCL2L8|BBC2" BCL2 homology region 3 (BH3) only 1277 1997-10-16 2015-11-24 2021-08-10 572 ENSG00000002330 OTTHUMG00000134302 uc001nzd.4 AF021792 NM_032989 CCDS8065 Q92934 8929532 MGI:1096330 RGD:620103 603167 HGNC:936 "ENST00000309032.8|NM_032989.3" +HGNC:937 BAG1 BAG cochaperone 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "BCL2 associated athanogene|BCL2 associated athanogene 1" BAG cochaperones 1139 1996-06-19 2019-09-27 2020-09-17 573 ENSG00000107262 OTTHUMG00000019766 uc064soo.1 AF022224 NM_004323 "CCDS55301|CCDS35004" Q99933 7834747 MGI:108047 RGD:1305203 601497 HGNC:937 "ENST00000634734.3|NM_004323.6" +HGNC:54932 BAG1P1 BAG1 pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-29 2020-04-29 392442 ENSG00000232370 NG_016482 +HGNC:938 BAG2 BAG cochaperone 2 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 BCL2 associated athanogene 2 BAG cochaperones 1139 1999-04-23 2019-09-27 2020-09-17 9532 ENSG00000112208 OTTHUMG00000014919 uc003pdr.4 AF095192 NM_004282 CCDS4961 O95816 9873016 MGI:1891254 RGD:1585173 603882 HGNC:938 "ENST00000370693.5|NM_004282.4" +HGNC:939 BAG3 BAG cochaperone 3 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 BAG family molecular chaperone regulator 3 BCL2 associated athanogene 3 BAG cochaperones 1139 1999-04-23 2019-09-27 2021-05-26 9531 ENSG00000151929 OTTHUMG00000019155 uc001lem.4 AF095193 NM_004281 CCDS7615 O95817 "9873016|18094623" MGI:1352493 RGD:1307794 LRG_742|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_742.xml 603883 201494 HGNC:939 "ENST00000369085.8|NM_004281.4" HGNC:939 +HGNC:940 BAG4 BAG cochaperone 4 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 SODD silencer of death domains BCL2 associated athanogene 4 BAG cochaperones 1139 1999-04-23 2019-09-27 2020-09-17 9530 ENSG00000156735 OTTHUMG00000164064 uc003xky.3 AF095194 NM_004874 "CCDS6104|CCDS56533" O95429 "9873016|9915703" MGI:1914634 RGD:1560875 603884 HGNC:940 "ENST00000287322.5|NM_004874.4" +HGNC:941 BAG5 BAG cochaperone 5 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 BCL2 associated athanogene 5 BAG cochaperones 1139 1999-04-23 2019-09-27 2020-09-17 9529 ENSG00000166170 OTTHUMG00000171763 uc001ynj.2 AF095195 NM_001015048 CCDS9982 Q9UL15 "9873016|15603737" MGI:1917619 RGD:1310847 603885 HGNC:941 "ENST00000299204.6|NM_001015048.3" +HGNC:13919 BAG6 BAG cochaperone 6 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G3|D6S52E|Scythe" BAT3 "HLA-B associated transcript 3|BCL2 associated athanogene 6" "BAG cochaperones|BAG6 complex" "1139|1891" 2001-07-13 2010-12-09 2019-09-27 2019-09-27 7917 ENSG00000204463 OTTHUMG00000031171 uc063yvn.1 M31294 NM_080703 "CCDS4709|CCDS56415|CCDS56414" P46379 2156268 MGI:1919439 RGD:71064 142590 HGNC:13919 "ENST00000676615.2|NM_001387994.1" +HGNC:942 BAGE B melanoma antigen protein-coding gene gene with protein product Approved 21p11.1 not on reference assembly 21p11.1 not on reference assembly "CT2.1|BAGE1" cancer/testis antigen family 2, member 1 BAGE family 1848 1995-03-30 2017-11-23 574 U19180 NM_001187 Q13072 7895173 605167 +HGNC:15723 BAGE2 BAGE family member 2, pseudogene pseudogene pseudogene Approved 21p11.2 21p11.2 CT2.2 cancer/testis antigen family 2, member 2 "B melanoma antigen family, member 2|BAGE family member 2" BAGE family 1848 2001-06-01 2021-03-05 2021-03-05 85319 ENSG00000187172 OTTHUMG00000074128 AF218570 NR_169269 Q86Y30 12461691 617776 HGNC:15723 +HGNC:15728 BAGE3 BAGE family member 3 protein-coding gene gene with protein product Approved 21p11.2 not on reference assembly 21p11.2 not on reference assembly CT2.3 cancer/testis antigen family 2, member 3 B melanoma antigen family, member 3 BAGE family 1848 2001-06-01 2017-02-24 2017-02-24 85318 AF339514 NM_182481 Q86Y29 12461691 617777 +HGNC:15730 BAGE4 BAGE family member 4 protein-coding gene gene with protein product Approved 21p11.1 not on reference assembly 21p11.1 not on reference assembly CT2.4 cancer/testis antigen family 2, member 4 MLL3P "MLL3 pseudogene|B melanoma antigen family, member 4" BAGE family 1848 2001-06-01 2017-02-24 2017-02-24 85317 AF339515 NM_181704 Q86Y28 12676563 +HGNC:15732 BAGE5 BAGE family member 5 protein-coding gene gene with protein product Approved 13cen, GRCh38 novel patch 13cen, GRCh38 novel patch CT2.5 cancer/testis antigen family 2, member 5 B melanoma antigen family, member 5 BAGE family 1848 2001-06-01 2017-02-24 2017-02-24 85316 uc062bdr.1 AF339516 NM_182484 Q86Y27 "12461691|12676563" +HGNC:29279 BAHCC1 BAH domain and coiled-coil containing 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1447|BAHD2" 2005-12-15 2016-10-19 57597 ENSG00000266074 OTTHUMG00000184171 uc002kae.3 NM_001291324 CCDS74173 Q9P281 10819331 MGI:2679272 RGD:1306500 617646 HGNC:29279 "ENST00000675386.2|NM_001377448.1" +HGNC:29153 BAHD1 bromo adjacent homology domain containing 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 KIAA0945 2004-01-14 2016-10-05 22893 ENSG00000140320 OTTHUMG00000129982 uc001zlv.3 AL833923 NM_014952 "CCDS73705|CCDS10058" Q8TBE0 10231032 MGI:2139371 RGD:1563127 613880 HGNC:29153 "ENST00000416165.6|NM_014952.5" +HGNC:947 BAIAP2 BAR/IMD domain containing adaptor protein 2 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "BAP2|IRSp53|WAML" "insulin receptor substrate of 53 kDa|WASP and MIM like" BAI1 associated protein 2 I-BAR domain containing 1287 1999-02-26 2019-07-04 2020-09-17 10458 ENSG00000175866 OTTHUMG00000177698 uc002jzg.3 AB015019 NM_001144888 "CCDS11777|CCDS11775|CCDS45806|CCDS11776" Q9UQB8 10343108 MGI:2137336 RGD:619814 605475 HGNC:947 "ENST00000428708.7|NM_001144888.2" +HGNC:44342 BAIAP2-DT BAIAP2 divergent transcript non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 lnc-BAIAP2 BAIAP2-AS1 "BAIAP2 antisense RNA 1 (non-protein coding)|BAIAP2 antisense RNA 1|BAIAP2 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-08-14 2018-03-21 2018-03-21 2019-06-06 440465 ENSG00000226137 OTTHUMG00000177697 uc060lfw.1 "AK027350|AK056555|AK075238|AK096609" NR_026857 30918008 BAIAP2-AS1 HGNC:44342 +HGNC:21649 BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 protein-coding gene gene with protein product Approved 7q21.3-q22.1 07q21.3-q22.1 IRTKS insulin receptor tyrosine kinase substrate BAI1 associated protein 2 like 1 I-BAR domain containing 1287 2005-02-09 2019-07-04 2019-07-04 55971 ENSG00000006453 OTTHUMG00000165117 uc003upj.4 AF119666 NM_018842 CCDS34687 Q9UHR4 MGI:1914148 RGD:1308452 611877 HGNC:21649 "ENST00000005260.9|NM_018842.5" +HGNC:26203 BAIAP2L2 BAR/IMD domain containing adaptor protein 2 like 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "FLJ22582|pinkbar" planar intestinal- and kidney-specific BAR domain protein BAI1 associated protein 2 like 2 I-BAR domain containing 1287 2005-02-09 2019-07-04 2019-07-04 80115 ENSG00000128298 OTTHUMG00000151197 uc003auw.4 BC015619 NM_025045 CCDS43018 Q6UXY1 21743456 MGI:2652819 RGD:1595091 617536 HGNC:26203 "ENST00000381669.8|NM_025045.6" +HGNC:948 BAIAP3 BAI1 associated protein 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "BAP3|KIAA0734" BAI1-associated protein 3 "C2 domain containing|UNC13 homologs" "823|836" 1999-02-26 2016-02-02 2020-09-17 8938 ENSG00000007516 OTTHUMG00000047833 uc002clk.3 AB017111 NM_001199096 "CCDS58402|CCDS66894|CCDS55979|CCDS10434|CCDS58403|CCDS55978" O94812 9790924 MGI:2685783 RGD:10059729 604009 HGNC:948 "ENST00000426824.8|NM_001199097.2" +HGNC:949 BAK1 BCL2 antagonist/killer 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "BCL2L7|BAK" CDN1 BCL2-antagonist/killer 1 BCL2 family 1057 1997-10-09 2016-02-24 2020-09-17 578 ENSG00000030110 OTTHUMG00000014530 uc003oes.4 U23765 NM_001188 CCDS4781 Q16611 "7715730|7715731" MGI:1097161 RGD:621635 600516 HGNC:949 "ENST00000374467.4|NM_001188.4" +HGNC:996 BAK1P1 BCL2 antagonist/killer 1 pseudogene 1 pseudogene pseudogene Approved 20q11.21 20q11.21 BAK2 BCL2L7P1 "BCL2-like 7 pseudogene 1|BCL2-antagonist/killer 1 pseudogene 1" 1997-10-09 2010-01-05 2016-02-24 2016-02-24 600 ENSG00000175730 OTTHUMG00000158163 U16812 NG_000850 7715731 HGNC:996 +HGNC:997 BAK1P2 BCL2 antagonist/killer 1 pseudogene 2 pseudogene pseudogene Approved 11q24.3 11q24.3 "BAK3|BAK3P" BCL2L7P2 "BCL2-like 7 pseudogene 2|BCL2-antagonist/killer 1 pseudogene 2" 1997-10-09 2010-01-05 2016-02-24 2016-02-24 601 ENSG00000236616 OTTHUMG00000165659 U16813 NG_005599 7715731 PGOHUM00000242541 HGNC:997 +HGNC:27946 BALR6 B-cell acute lymphoblastic leukemia associated long RNA 6 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 BALR-6 B-ALL associated long RNA-6 Long non-coding RNAs with non-systematic symbols 1992 2021-11-25 2021-11-25 339862 ENSG00000274840 NR_161333 26694754 +HGNC:30251 BAMBI BMP and activin membrane bound inhibitor protein-coding gene gene with protein product Approved 10p12.1 10p12.1 NMA BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) 2004-02-04 2016-06-03 2016-10-05 25805 ENSG00000095739 OTTHUMG00000017874 uc001iuj.2 U23070 NM_012342 CCDS7162 Q13145 "8621228|19758997" MGI:1915260 RGD:621831 604444 HGNC:30251 "ENST00000375533.6|NM_012342.3" +HGNC:43877 BANCR BRAF-activated non-protein coding RNA non-coding RNA RNA, long non-coding Approved 9q21.11-q21.12 09q21.11-q21.12 LINC00586 Long non-coding RNAs with non-systematic symbols 1992 2012-05-11 2018-02-13 100885775 ENSG00000278910 OTTHUMG00000189430 uc064tpg.1 AA442164 NR_047671 "22581800|22673151|24655544" 619589 bancr BANCR HGNC:43877 +HGNC:17397 BANF1 BAF nuclear assembly factor 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 BAF barrier to autointegration factor 1 2003-02-14 2019-10-03 2019-10-03 8815 ENSG00000175334 OTTHUMG00000166749 uc001ogo.4 AF068235 NM_003860 CCDS8125 O75531 "9465049|31147383" MGI:1346330 RGD:620662 603811 280581 HGNC:17397 "ENST00000312175.7|NM_003860.4" HGNC:17397 +HGNC:20252 BANF1P1 BANF1 pseudogene 1 pseudogene pseudogene Approved 14q24.1 14q24.1 "BCRP1|D14S1460|D14S1460E|BCRG1" barrier to autointegration factor 1 pseudogene 1 2003-04-09 2019-10-03 2019-10-03 317687 ENSG00000258531 OTTHUMG00000171668 NG_029480 9740667 PGOHUM00000248215 HGNC:20252 +HGNC:23426 BANF1P2 BANF1 pseudogene 2 pseudogene pseudogene Approved 10q26.3 10q26.3 bA122K13.8 BANF1L1 "barrier to autointegration factor 1-like 1|barrier to autointegration factor 1 pseudogene 2" 2004-05-27 2012-04-19 2019-10-03 2019-10-03 414169 ENSG00000230306 OTTHUMG00000019314 NG_029687 PGOHUM00000238655 HGNC:23426 +HGNC:43883 BANF1P3 BANF1 pseudogene 3 pseudogene pseudogene Approved 2q37.1 02q37.1 barrier to autointegration factor 1 pseudogene 3 2012-04-19 2019-10-03 2019-10-03 100505506 ENSG00000237758 OTTHUMG00000153830 NG_029257 PGOHUM00000240547 HGNC:43883 +HGNC:43884 BANF1P4 BANF1 pseudogene 4 pseudogene pseudogene Approved 1q25.1 01q25.1 barrier to autointegration factor 1 pseudogene 4 2012-04-19 2019-10-03 2019-10-03 100653423 ENSG00000223828 OTTHUMG00000034935 NG_029684 PGOHUM00000244343 HGNC:43884 +HGNC:43885 BANF1P5 BANF1 pseudogene 5 pseudogene pseudogene Approved 7q22.3 07q22.3 barrier to autointegration factor 1 pseudogene 5 2012-04-19 2019-10-03 2020-04-20 101290503 ENSG00000225935 OTTHUMG00000154778 NG_033173 PGOHUM00000232957 HGNC:43885 +HGNC:16172 BANF2 BANF family member 2 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "dJ803K15.1|BAF-L|BAFL|BAF2" C20orf179 "chromosome 20 open reading frame 179|barrier to autointegration factor 2" 2001-07-17 2007-12-17 2019-10-03 2019-10-03 140836 ENSG00000125888 OTTHUMG00000031949 uc002wqa.3 BC054871 NM_178477 "CCDS54449|CCDS13129" Q9H503 16337940 MGI:2684961 RGD:1307909 HGNC:16172 "ENST00000246090.6|NM_178477.5" +HGNC:18233 BANK1 B cell scaffold protein with ankyrin repeats 1 protein-coding gene gene with protein product Approved 4q24 04q24 "BANK|FLJ20706" Ankyrin repeat domain containing 403 2003-10-24 2017-12-06 2017-12-06 55024 ENSG00000153064 OTTHUMG00000160958 uc003hvy.5 AB063170 NM_017935 "CCDS34038|CCDS47115|CCDS47116" Q8NDB2 "11782428|21208380|21480188" MGI:2442120 RGD:1564639 610292 353589 HGNC:18233 "ENST00000322953.9|NM_017935.5" +HGNC:13450 BANP BTG3 associated nuclear protein protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "SMARBP1|SMAR1|FLJ20538|DKFZp761H172|FLJ10177|BEND1" BEN domain containing 1 BEN domain containing 422 2004-06-07 2016-10-05 54971 ENSG00000172530 OTTHUMG00000137678 uc002fkq.4 AK094158 NM_017869 "CCDS10966|CCDS54053|CCDS42215|CCDS54055|CCDS54052|CCDS54054" Q8N9N5 "10940556|10950932" MGI:1889023 RGD:1307464 611564 HGNC:13450 "ENST00000682872.1|NM_001386991.1" +HGNC:950 BAP1 BRCA1 associated protein 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "hucep-6|KIAA0272|UCHL2" ubiquitin carboxy-terminal hydrolase BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) Ubiquitin C-terminal hydrolases 998 1998-09-17 2015-11-13 2021-04-13 8314 ENSG00000163930 OTTHUMG00000158392 uc003ddx.5 AF045581 NM_004656 CCDS2853 Q92560 9528852 MGI:1206586 RGD:1311938 LRG_529|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_529.xml BAP1 603089 289543 C12.004 objectId:2332 HGNC:950 "ENST00000460680.6|NM_004656.4" HGNC:950 +HGNC:952 BARD1 BRCA1 associated RING domain 1 protein-coding gene gene with protein product Approved 2q35 02q35 "Ring finger proteins|Ankyrin repeat domain containing|BRCA1 B complex" "58|403|1335" 1998-08-05 2021-05-26 580 ENSG00000138376 OTTHUMG00000133016 uc021vwi.2 NM_000465 "CCDS74648|CCDS74647|CCDS74646|CCDS74645|CCDS2397" Q99728 "8944023|9425226|15159397" MGI:1328361 RGD:621072 LRG_297|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_297.xml BARD1 601593 201093 HGNC:952 "ENST00000260947.9|NM_000465.4" HGNC:952 +HGNC:953 BARHL1 BarH like homeobox 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "BarH (Drosophila)-like 1|BarH-like homeobox 1" NKL subclass homeoboxes and pseudogenes 519 2000-05-19 2016-01-19 2020-09-17 56751 ENSG00000125492 OTTHUMG00000020839 uc004cbp.2 AJ237816 NM_020064 CCDS6950 Q9BZE3 MGI:1859288 RGD:620648 605211 8419 HGNC:953 "ENST00000263610.7|NM_020064.4" +HGNC:954 BARHL2 BarH like homeobox 2 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "BarH (Drosophila)-like 2|BarH-like homeobox 2" NKL subclass homeoboxes and pseudogenes 519 2000-05-19 2016-01-19 2020-09-17 343472 ENSG00000143032 OTTHUMG00000010020 uc001dns.4 AJ251753 NM_020063 CCDS730 Q9NY43 14998930 MGI:1859314 RGD:620726 605212 8409 HGNC:954 "ENST00000370445.5|NM_020063.2" +HGNC:955 BARX1 BARX homeobox 1 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 BarH-like homeobox 1 NKL subclass homeoboxes and pseudogenes 519 2000-07-12 2007-07-09 2020-09-17 56033 ENSG00000131668 OTTHUMG00000020255 uc010mrh.4 NM_021570 CCDS35070 Q9HBU1 MGI:103124 RGD:1310884 603260 8420 HGNC:955 "ENST00000253968.11|NM_021570.4" +HGNC:50673 BARX1-DT BARX1 divergent transcript non-coding RNA RNA, long non-coding Approved 9q22.32 09q22.32 BARX1-AS1 BARX1 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-06-05 2018-03-21 2018-03-21 2018-03-21 101928040 ENSG00000235601 OTTHUMG00000020256 NR_144455 BARX1-AS1 HGNC:50673 +HGNC:956 BARX2 BARX homeobox 2 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 BarH-like homeobox 2 NKL subclass homeoboxes and pseudogenes 519 1998-10-19 2007-07-09 2020-09-17 8538 ENSG00000043039 OTTHUMG00000165776 uc001qfc.5 AF031924 NM_003658 CCDS8481 Q9UMQ3 10644443 MGI:109617 RGD:1584840 604823 8421 HGNC:956 "ENST00000281437.6|NM_003658.5" +HGNC:957 BASP1 brain abundant membrane attached signal protein 1 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "NAP-22|NAP22|CAP23|CAP-23" brain abundant, membrane attached signal protein 1 1999-12-08 2016-01-06 2020-09-17 10409 ENSG00000176788 OTTHUMG00000131061 uc031siz.2 AF039656 NM_001271606 CCDS3888 P80723 "9310187|9749536" MGI:1917600 RGD:621491 605940 HGNC:957 "ENST00000322611.4|NM_006317.5" +HGNC:26609 BASP1-AS1 BASP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 LOC285696 Antisense RNAs 1987 2017-09-08 2018-03-21 285696 ENSG00000215196 OTTHUMG00000131059 NR_027253 28871211 HGNC:26609 +HGNC:39418 BASP1P1 BASP1 pseudogene 1 pseudogene pseudogene Approved 13q12.12 13q12.12 brain abundant, membrane attached signal protein 1 pseudogene 1 2010-12-03 2019-01-18 2019-01-18 646201 ENSG00000230535 OTTHUMG00000016557 NR_033774 HGNC:39418 +HGNC:958 BATF basic leucine zipper ATF-like transcription factor protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "B-ATF|SFA-2|BATF1" "activating transcription factor B|SF-HT-activated gene 2" basic leucine zipper transcription factor, ATF-like Basic leucine zipper proteins 506 2000-05-15 2016-06-28 2020-09-17 10538 ENSG00000156127 OTTHUMG00000171486 uc001xrr.4 AF016898 NM_006399 CCDS9843 Q16520 "8570175|8630063" MGI:1859147 RGD:1304923 612476 HGNC:958 "ENST00000286639.8|NM_006399.5" +HGNC:25163 BATF2 basic leucine zipper ATF-like transcription factor 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 MGC20410 basic leucine zipper transcription factor, ATF-like 2 Basic leucine zipper proteins 506 2006-02-11 2016-06-28 2016-06-28 116071 ENSG00000168062 OTTHUMG00000165633 uc001ocf.2 AK092453 NM_138456 "CCDS8087|CCDS76429|CCDS73317" Q8N1L9 MGI:1921731 RGD:1311481 614983 HGNC:25163 "ENST00000301887.9|NM_138456.4" +HGNC:28915 BATF3 basic leucine zipper ATF-like transcription factor 3 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "JUNDM1|SNFT|JDP1" Jun dimerization protein 1 basic leucine zipper transcription factor, ATF-like 3 Basic leucine zipper proteins 506 2007-10-17 2016-06-28 2016-06-28 55509 ENSG00000123685 OTTHUMG00000036807 uc001hjl.3 AF255346 NM_018664 CCDS1508 Q9NR55 "10878360|12087103" MGI:1925491 RGD:620501 612470 HGNC:28915 "ENST00000243440.2|NM_018664.3" +HGNC:959 BAX BCL2 associated X, apoptosis regulator protein-coding gene gene with protein product Approved 19q13.33 19q13.33 BCL2L4 "BCL2-associated X protein|BCL2 associated X protein" BCL2 family 1057 1994-11-08 2016-06-17 2020-09-17 581 ENSG00000087088 OTTHUMG00000160476 uc002plk.4 NM_138763 "CCDS12742|CCDS12744|CCDS12743|CCDS12745|CCDS77327" Q07812 8358790 MGI:99702 RGD:2192 BAX 600040 HGNC:959 "ENST00000345358.12|NM_138761.4" HGNC:959 +HGNC:960 BAZ1A bromodomain adjacent to zinc finger domain 1A protein-coding gene gene with protein product Approved 14q13.1-q13.2 14q13.1-q13.2 "hACF1|ACF1|WALp1|WCRF180" "PHD finger proteins|Bromodomain containing|Chromatin accessibility complex" "88|1232|1633" 1999-09-06 2015-11-13 2020-09-17 11177 ENSG00000198604 OTTHUMG00000140216 uc001wsk.4 AB032252 NM_013448 "CCDS41943|CCDS9651" Q9NRL2 10662543 MGI:1309478 RGD:1306199 605680 objectId:2773 HGNC:960 "ENST00000360310.6|NM_013448.3" HGNC:960 +HGNC:55440 BAZ1A-AS1 BAZ1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q13.2 14q13.2 Antisense RNAs 1987 2021-01-14 2021-01-14 112268124 ENSG00000258738 NR_160776 +HGNC:961 BAZ1B bromodomain adjacent to zinc finger domain 1B protein-coding gene gene with protein product Approved 7q11.23 07q11.23 WSTF "Williams-Beuren syndrome chromosome region 9|Williams-Beuren syndrome chromosome region 10|transcription factor WSTF" "WBSCR9|WBSCR10" "PHD finger proteins|Bromodomain containing|B-WICH chromatin-remodelling complex subunits" "88|1232|1787" 1999-01-21 2015-11-13 2020-09-17 9031 ENSG00000009954 OTTHUMG00000023847 uc003tyc.4 AF084479 NM_032408 CCDS5549 Q9UIG0 "9858827|9828126" MGI:1353499 RGD:1597089 605681 118970 objectId:2774 HGNC:961 "ENST00000339594.9|NM_032408.4" HGNC:961 +HGNC:962 BAZ2A bromodomain adjacent to zinc finger domain 2A protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "KIAA0314|TIP5|WALp3" TTF-I interacting peptide 5 "PHD finger proteins|Methyl-CpG binding domain containing|Bromodomain containing" "88|1025|1232" 1999-09-06 2015-11-13 2020-09-17 11176 ENSG00000076108 OTTHUMG00000170332 uc001slq.2 AB032254 NM_013449 "CCDS44924|CCDS73483" Q9UIF9 "10662543|11532953" MGI:2151152 RGD:1305037 605682 objectId:2721 HGNC:962 "ENST00000549884.6|NM_001300905.2" +HGNC:963 BAZ2B bromodomain adjacent to zinc finger domain 2B protein-coding gene gene with protein product Approved 2q24.2 02q24.2 WALp4 "PHD finger proteins|Methyl-CpG binding domain containing|Bromodomain containing" "88|1025|1232" 1999-09-06 2015-11-13 2020-09-17 29994 ENSG00000123636 OTTHUMG00000132027 uc002uao.4 AB032255 NM_001289975 "CCDS2209|CCDS74594" Q9UIF8 10662543 MGI:2442782 RGD:1309801 605683 objectId:2722 HGNC:963 "ENST00000392783.7|NM_013450.4" +HGNC:55862 BAZ2B-AS1 BAZ2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Antisense RNAs 1987 2021-09-03 2021-09-03 2021-09-03 643072 ENSG00000224152 NR_110587 +HGNC:17868 BBC3 BCL2 binding component 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "JFY1|PUMA" p53-upregulated modulator of apoptosis "BCL2 homology region 3 (BH3) only|MicroRNA protein coding host genes" "1277|1691" 2002-07-22 2017-03-13 27113 ENSG00000105327 OTTHUMG00000183489 uc002pgf.5 AF332558 NM_014417 "CCDS12697|CCDS46130|CCDS46128|CCDS46129" "Q96PG8|Q9BXH1" "11463392|11572983" MGI:2181667 RGD:631434 605854 HGNC:17868 "ENST00000439096.3|NM_014417.5" +HGNC:28093 BBIP1 BBSome interacting protein 1 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "bA348N5.3|BBIP10|BBS18" NCRNA00081 non-protein coding RNA 81 BBSome 1122 2008-09-02 2010-12-09 2010-12-09 2021-10-06 92482 ENSG00000214413 OTTHUMG00000019046 uc010qrf.2 AK025724 NM_001195304 "CCDS55726|CCDS58094|CCDS55727|CCDS55728" A8MTZ0 19081074 MGI:1913610 RGD:6498801 613605 390746 HGNC:28093 "ENST00000448814.7|NM_001195305.3" HGNC:28093 +HGNC:52781 BBIP1P1 BBSome interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 2q11.2 02q11.2 2016-12-09 2016-12-09 105373509 ENSG00000271532 OTTHUMG00000184265 PGOHUM00000298593 HGNC:52781 +HGNC:17823 BBLN bublin coiled coil protein protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "EST00098|FLJ12823|MGC4639" C9orf16 chromosome 9 open reading frame 16 2002-01-29 2020-12-11 2020-12-11 2020-12-11 79095 ENSG00000171159 OTTHUMG00000020731 uc004btp.1 AK022885 NM_024112 CCDS6893 Q9BUW7 10369878 MGI:1920987 RGD:1561113 HGNC:17823 "ENST00000372994.2|NM_024112.4" +HGNC:19855 BBOF1 basal body orientation factor 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FBB10 "C14orf45|CCDC176" "chromosome 14 open reading frame 45|coiled-coil domain containing 176" 2003-01-13 2015-10-08 2015-10-08 2020-01-28 80127 ENSG00000119636 OTTHUMG00000171202 BI457605 NM_025057 CCDS32119 Q8ND07 23900544 MGI:1920123 RGD:1560978 HGNC:19855 "ENST00000394009.5|NM_025057.3" +HGNC:964 BBOX1 gamma-butyrobetaine hydroxylase 1 protein-coding gene gene with protein product Approved 11p14.2 11p14.2 "gamma-BBH|G-BBH|BBH" BBOX butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 1999-02-26 2016-02-22 2020-09-17 8424 ENSG00000129151 OTTHUMG00000166121 uc057zxq.1 AF082868 NM_003986 CCDS7862 O75936 9753662 MGI:1891372 RGD:619756 603312 1.14.11.1 HGNC:964 "ENST00000263182.8|NM_003986.3" +HGNC:50700 BBOX1-AS1 BBOX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p14.2-p14.1 11p14.2-p14.1 Antisense RNAs 1987 2014-06-09 2020-01-30 103695435 ENSG00000254560 OTTHUMG00000166122 DA865512 NR_125766 31984680 BBOX1-AS1 HGNC:50700 +HGNC:966 BBS1 Bardet-Biedl syndrome 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ23590 BBSome 1122 1994-01-28 2020-09-17 582 ENSG00000174483 OTTHUMG00000167110 uc001oij.2 AF503941 NM_024649 CCDS8142 Q8NFJ9 "9039982|12567324" MGI:1277215 RGD:1307581 Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2)|http://www.retina-international.org/files/sci-news/bbs1mut.htm 209901 118975 HGNC:966 "ENST00000318312.12|NM_024649.5" HGNC:966 +HGNC:967 BBS2 Bardet-Biedl syndrome 2 protein-coding gene gene with protein product Approved 16q13 16q13 BBS BBSome 1122 1993-10-26 2020-09-17 583 ENSG00000125124 OTTHUMG00000176943 uc002ejd.3 AF342736 NM_031885 CCDS32451 Q9BXC9 11285252 MGI:2135267 RGD:71091 Mutations of the Bardet-Biedl Syndrome Type 2 Gene|http://www.retina-international.org/files/sci-news/bbs2mut.htm 606151 118982 HGNC:967 "ENST00000245157.11|NM_031885.5" HGNC:967 +HGNC:969 BBS4 Bardet-Biedl syndrome 4 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "Tetratricopeptide repeat domain containing|BBSome" "769|1122" 1995-07-11 2020-09-17 585 ENSG00000140463 OTTHUMG00000133510 uc002avb.4 AF090947 NM_033028 "CCDS10246|CCDS58377" Q96RK4 "7711739|11381270|30665891" MGI:2143311 RGD:1309134 Mutations of the Bardet-Biedl Syndrome Type 4 Gene|http://www.retina-international.org/files/sci-news/bbs4mut.htm 600374 118985 HGNC:969 "ENST00000268057.9|NM_033028.5" HGNC:969 +HGNC:970 BBS5 Bardet-Biedl syndrome 5 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 DKFZp762I194 BBSome 1122 1998-03-25 2020-09-17 129880 ENSG00000163093 OTTHUMG00000132207 uc002uet.4 AY604003 NM_152384 CCDS2233 Q8N3I7 "9888993|10053027" MGI:1919819 RGD:1310718 603650 118987 HGNC:970 "ENST00000295240.8|NM_152384.3" HGNC:970 +HGNC:18758 BBS7 Bardet-Biedl syndrome 7 protein-coding gene gene with protein product Approved 4q27 04q27 "FLJ10715|BBS2L1" BBSome 1122 2003-02-05 2016-10-25 55212 ENSG00000138686 OTTHUMG00000133076 uc003ied.4 AF521644 NM_018190 "CCDS3724|CCDS54799" Q8IWZ6 MGI:1918742 RGD:1309264 Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1)|http://www.retina-international.org/files/sci-news/bbs7mut.htm 607590 118990 HGNC:18758 "ENST00000264499.9|NM_176824.3" HGNC:18758 +HGNC:55360 BBS7-DT BBS7 divergent transcript non-coding RNA RNA, long non-coding Approved 4q27 04q27 Divergent transcripts 1990 2020-11-11 2020-11-11 119545622 ENSG00000261501 +HGNC:30000 BBS9 Bardet-Biedl syndrome 9 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "B1|PTHB1" parathyroid hormone responsive B1 gene BBSome 1122 2007-01-18 2016-10-05 27241 ENSG00000122507 OTTHUMG00000128659 uc003tdp.1 NM_001033604 "CCDS43566|CCDS47572|CCDS34618|CCDS5441" Q3SYG4 "16380913|10221542" MGI:2442833 RGD:1308472 607968 118994 HGNC:30000 "ENST00000242067.11|NM_198428.3" HGNC:30000 +HGNC:26291 BBS10 Bardet-Biedl syndrome 10 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 FLJ23560 C12orf58 chromosome 12 open reading frame 58 Chaperonins 587 2006-02-09 2006-04-28 2006-04-28 2021-04-13 79738 ENSG00000179941 OTTHUMG00000147352 uc001syd.2 BC026355 NM_024685 CCDS9014 Q8TAM1 16582908 MGI:1919019 RGD:1560748 LRG_1255|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1255.xml 610148 118978 HGNC:26291 "ENST00000650064.2|NM_024685.4" HGNC:26291 +HGNC:26648 BBS12 Bardet-Biedl syndrome 12 protein-coding gene gene with protein product Approved 4q27 04q27 "FLJ35630|FLJ41559" C4orf24 chromosome 4 open reading frame 24 Chaperonins 587 2006-05-22 2006-12-13 2006-12-13 2014-11-18 166379 ENSG00000181004 OTTHUMG00000133070 uc003ieu.3 AK123553 NM_152618 CCDS3728 Q6ZW61 17160889 MGI:2686651 RGD:1561608 610683 137646 HGNC:26648 "ENST00000314218.8|NM_152618.3" HGNC:26648 +HGNC:14422 BBX BBX high mobility group box domain containing protein-coding gene gene with protein product Approved 3q13.12 03q13.12 "MDS001|HSPC339|HBP2" x 001 protein "bobby sox homolog (Drosophila)|BBX, HMG-box containing" 2002-01-08 2019-01-31 2019-01-31 56987 ENSG00000114439 OTTHUMG00000150360 uc003dwk.6 AF168718 NM_020235 "CCDS46881|CCDS2950|CCDS63712" Q8WY36 11680820 MGI:1917758 RGD:1309769 HGNC:14422 "ENST00000325805.13|NM_001142568.3" +HGNC:6722 BCAM basal cell adhesion molecule (Lutheran blood group) protein-coding gene gene with protein product Approved 19q13.32 19q13.32 CD239 LU "Lutheran blood group (Auberger b antigen included)|basal cell adhesion molecule (Lu and Au blood groups)" "Blood group antigens|CD molecules|C2-set domain containing|Ig-like cell adhesion molecule family" "454|471|592|1410" 2001-06-22 2006-01-12 2006-02-23 2021-05-26 4059 ENSG00000187244 OTTHUMG00000180838 uc002ozu.5 X83425 NM_005581 "CCDS12644|CCDS42575" P50895 MGI:1929940 RGD:68378 LRG_798|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_798.xml 612773 CD239 HGNC:6722 "ENST00000270233.12|NM_005581.5" +HGNC:23059 BCAN brevican protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "BEHAB|MGC13038|CSPG7" "chondroitin sulfate proteoglycan 7|brevican proteoglycan" "Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing" "574|590|1179|1298" 2004-03-01 2016-10-05 63827 ENSG00000132692 OTTHUMG00000033322 uc001fpp.4 BC027971 NM_021948 "CCDS1150|CCDS1149" Q96GW7 "11054543|11873941" MGI:1096385 RGD:2194 600347 HGNC:23059 "ENST00000329117.10|NM_021948.5" +HGNC:55233 BCAN-AS1 BCAN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.1 01q23.1 RP11-284F21.9 Antisense RNAs 1987 2020-09-16 2020-09-25 105371453 ENSG00000272068 32936290 +HGNC:24131 BCAP29 B cell receptor associated protein 29 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "BAP29|DKFZp686M2086" B-cell receptor-associated protein 29 2003-12-22 2017-12-06 2017-12-06 55973 ENSG00000075790 OTTHUMG00000154770 uc003vej.3 NM_018844 "CCDS34730|CCDS34731" Q9UHQ4 "8070407|12886015" MGI:101917 RGD:1359431 619612 HGNC:24131 "ENST00000005259.9|NM_018844.4" +HGNC:16695 BCAP31 B cell receptor associated protein 31 protein-coding gene gene with protein product Approved Xq28 Xq28 "DXS1357E|BAP31|6C6-Ag|CDM" 2003-12-22 2017-12-06 2017-12-06 10134 ENSG00000185825 OTTHUMG00000024218 uc004fie.3 X81109 NM_005745 "CCDS14727|CCDS48191" P51572 MGI:1350933 RGD:1302944 300398 376561 HGNC:16695 "ENST00000345046.12|NM_001256447.2" HGNC:16695 +HGNC:51323 BCAP31P1 B cell receptor associated protein 31 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 TCONS_l2_00010135 B cell receptor-associated protein 31 pseudogene 1 2014-10-03 2017-12-06 2017-12-06 100194425 ENSG00000261217 OTTHUMG00000176372 NG_009002 HGNC:51323 +HGNC:51324 BCAP31P2 B cell receptor associated protein 31 pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 TCONS_l2_00009689 B cell receptor-associated protein 31 pseudogene 2 2014-10-03 2017-12-06 2017-12-06 100194426 ENSG00000260047 OTTHUMG00000176440 NG_009003 PGOHUM00000293807 HGNC:51324 +HGNC:971 BCAR1 BCAR1 scaffold protein, Cas family member protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "P130Cas|Crkas|CAS|CASS1" "Crk-associated substrate|Cas scaffolding protein family member 1" "breast cancer anti-estrogen resistance 1|BCAR1, Cas family scaffolding protein|BCAR1, Cas family scaffold protein" Cas scaffold proteins 469 1999-04-29 2019-01-25 2020-09-17 9564 ENSG00000050820 OTTHUMG00000137604 uc002fdv.4 AJ242987 NM_014567 "CCDS54037|CCDS54039|CCDS54038|CCDS54043|CCDS54041|CCDS54042|CCDS10915|CCDS54040" P56945 "8413311|10639512" MGI:108091 RGD:2406 602941 HGNC:971 "ENST00000162330.10|NM_014567.5" +HGNC:51325 BCAR1P1 BCAR1 pseudogene 1 pseudogene pseudogene Approved 15q11.1 15q11.1 breast cancer anti-estrogen resistance 1 pseudogene 1 2014-10-03 2019-01-25 2019-01-25 100533717 ENSG00000258397 OTTHUMG00000171656 NG_028857 PGOHUM00000246616 HGNC:51325 +HGNC:51326 BCAR1P2 BCAR1 pseudogene 2 pseudogene pseudogene Approved 15q11.2 15q11.2 breast cancer anti-estrogen resistance 1 pseudogene 2 2014-10-03 2019-01-25 2019-01-25 100533718 ENSG00000258771 OTTHUMG00000171713 NG_028859 PGOHUM00000246633 HGNC:51326 +HGNC:973 BCAR3 BCAR3 adaptor protein, NSP family member protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "NSP2|SH2D3B|AND-34|MIG7" migration inducting gene-7 "breast cancer anti-estrogen resistance 3|BCAR3, NSP family adaptor protein" "SH2 domain containing|NSP adaptor proteins" "741|1562" 1999-04-29 2019-01-25 2021-01-14 8412 ENSG00000137936 OTTHUMG00000010301 uc001dqb.5 U92715 NM_001261408 "CCDS58010|CCDS745|CCDS76181" O75815 "9582273|22081014" MGI:1352501 RGD:1311688 604704 HGNC:973 "ENST00000260502.11|NM_003567.4" +HGNC:40093 BCAR3-AS1 BCAR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.1 01p22.1 Antisense RNAs 1987 2019-07-24 2019-07-24 100129046 ENSG00000224093 OTTHUMG00000010302 NR_034091 HGNC:40093 +HGNC:22170 BCAR4 breast cancer anti-estrogen resistance 4 non-coding RNA RNA, long non-coding Approved 16p13.13 16p13.13 "breast cancer anti-estrogen resistance 4|breast cancer anti-estrogen resistance 4 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2006-05-09 2018-05-16 2018-07-20 400500 ENSG00000262117 OTTHUMG00000177469 uc059qxb.1 NR_024049 "16778085|23202989" 613746 BCAR4 HGNC:22170 +HGNC:974 BCAS1 brain enriched myelin associated protein 1 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "NABC1|AIBC1|PMES-2" protein having mRNA enriched in synaptosomes 2 breast carcinoma amplified sequence 1 MicroRNA protein coding host genes 1691 1998-10-12 2020-03-05 2020-09-17 8537 ENSG00000064787 OTTHUMG00000032772 uc002xws.3 AF041260 NM_003657 "CCDS82631|CCDS13444" O75363 "9671742|28230289|29212715" MGI:1924210 RGD:628644 602968 HGNC:974 "ENST00000688948.1|NM_001366298.2" +HGNC:975 BCAS2 BCAS2 pre-mRNA processing factor protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "DAM1|SPF27|Snt309" DNA amplified in mammary carcinoma 1 "breast carcinoma amplified sequence 2|BCAS2, pre-mRNA processing factor" "NineTeen complex|Spliceosomal C complex" "1361|1510" 2000-01-31 2019-01-25 2020-09-17 10286 ENSG00000116752 OTTHUMG00000011898 uc001efa.4 AB020623 NM_005872 CCDS874 O75934 "9731529|10403562" MGI:1915433 RGD:1306485 605783 HGNC:975 "ENST00000369541.4|NM_005872.3" +HGNC:39594 BCAS2P1 BCAS2 pseudogene 1 pseudogene pseudogene Approved 11q14.1 11q14.1 "breast carcinoma amplified sequence 2 pseudogene 1|BCAS2, pre-mRNA processing factor pseudogene 1" 2011-03-16 2019-01-18 2019-01-18 100127960 ENSG00000255051 OTTHUMG00000167015 NG_021825 PGOHUM00000242824 HGNC:39594 +HGNC:39595 BCAS2P2 BCAS2 pseudogene 2 pseudogene pseudogene Approved 1p21.2 01p21.2 "breast carcinoma amplified sequence 2 pseudogene 2|BCAS2, pre-mRNA processing factor pseudogene 2" 2011-03-16 2019-01-18 2019-01-18 100421045 ENSG00000234332 OTTHUMG00000010985 NG_026962 PGOHUM00000244120 HGNC:39595 +HGNC:39596 BCAS2P3 BCAS2 pseudogene 3 pseudogene pseudogene Approved 13q31.1 13q31.1 "breast carcinoma amplified sequence 2 pseudogene 3|BCAS2, pre-mRNA processing factor pseudogene 3" 2011-03-16 2019-01-18 2019-01-18 100128339 ENSG00000226670 OTTHUMG00000017128 NG_021971 PGOHUM00000248645 HGNC:39596 +HGNC:14347 BCAS3 BCAS3 microtubule associated cell migration factor protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "FLJ20128|PHAF2" "Rudhira|phagophore assembly factor 2" "breast carcinoma amplified sequence 3|BCAS3, microtubule associated cell migration factor" WD repeat domain containing 362 2001-01-09 2019-01-25 2021-02-15 54828 ENSG00000141376 OTTHUMG00000180064 uc002iyu.5 AF361219 NM_017679 "CCDS82176|CCDS45749|CCDS82177|CCDS82178|CCDS11626" Q9H6U6 "18030336|22300583|33499712" MGI:2385848 RGD:1560788 607470 HGNC:14347 "ENST00000407086.8|NM_017679.5" +HGNC:14367 BCAS4 breast carcinoma amplified sequence 4 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "FLJ20495|CNOL" 2001-01-18 2019-05-10 55653 ENSG00000124243 OTTHUMG00000032735 uc002xvr.5 AK000502 NM_017843 CCDS33487 Q8TDM0 12378525 607471 HGNC:14367 "ENST00000371608.8|NM_198799.4" +HGNC:976 BCAT1 branched chain amino acid transaminase 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 BCATc BCT1 branched chain aminotransferase 1, cytosolic 2001-06-22 2016-03-07 2021-02-02 586 ENSG00000060982 OTTHUMG00000169053 uc001rgd.5 NM_005504 "CCDS53760|CCDS44845|CCDS53761|CCDS53762|CCDS53763" P54687 9165094 MGI:104861 RGD:2195 113520 2.6.1.42 HGNC:976 "ENST00000261192.12|NM_005504.7" +HGNC:977 BCAT2 branched chain amino acid transaminase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "BCAM|BCATm" BCT2 branched chain aminotransferase 2, mitochondrial Minor histocompatibility antigens 870 2001-06-22 2016-03-07 2021-05-26 587 ENSG00000105552 OTTHUMG00000183327 uc002pkr.4 U68418 NM_001164773 "CCDS74416|CCDS12735|CCDS54290" O15382 9165094 MGI:1276534 RGD:68948 113530 469978 objectId:2893 2.6.1.42 HGNC:977 "ENST00000316273.11|NM_001190.4" HGNC:977 +HGNC:978 BCCIP BRCA2 and CDKN1A interacting protein protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "BCCIPalpha|TOK-1" BRCA2 and CDKN1A-interacting protein 2000-08-11 2001-11-29 2020-09-17 56647 ENSG00000107949 OTTHUMG00000019237 uc001ljb.5 AB040451 NM_016567 "CCDS7649|CCDS7651|CCDS7650" Q9P287 "11313963|10878006" MGI:1913415 RGD:1307362 611883 HGNC:978 "ENST00000278100.11|NM_078468.3" +HGNC:27050 BCDIN3D BCDIN3 domain containing RNA methyltransferase protein-coding gene gene with protein product Approved 12q13.12 12q13.12 BCDIN3 domain containing 7BS DNA/RNA methyltransferases 2059 2007-04-19 2016-03-07 2016-10-05 144233 ENSG00000186666 OTTHUMG00000169807 uc001rvh.4 NM_181708 CCDS8790 Q7Z5W3 23063121 MGI:1922534 RGD:1306433 619601 HGNC:27050 "ENST00000333924.6|NM_181708.3" +HGNC:44113 BCDIN3D-AS1 BCDIN3D antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 BCDIN3D antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100286844 ENSG00000258057 OTTHUMG00000169706 uc001rvg.4 BC014925 NR_027499 BCDIN3D-AS1 HGNC:44113 +HGNC:983 BCHE butyrylcholinesterase protein-coding gene gene with protein product Approved 3q26.1 03q26.1 E1 "CHE1|CHE2" "cholinesterase 1|cholinesterase (serum) 2" 1986-01-01 2021-05-26 590 ENSG00000114200 OTTHUMG00000158131 uc003fem.5 M16541 NM_000055 CCDS3198 P06276 "1769657|2318303" MGI:894278 RGD:619996 ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives|http://bioweb.ensam.inra.fr/esther 177400 118998 S09.980 objectId:2471 3.1.1.8 HGNC:983 "ENST00000264381.8|NM_000055.4" HGNC:983 +HGNC:986 BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MSU maple syrup urine disease OVD1A "branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)|2-oxoisovalerate dehydrogenase (lipoamide)|branched chain keto acid dehydrogenase E1, alpha polypeptide" 1989-06-30 2019-04-24 2021-05-26 593 ENSG00000248098 OTTHUMG00000168128 uc002oqq.4 J04474 NM_000709 CCDS12581 P12694 MGI:107701 RGD:2196 608348 119002 HGNC:986 "ENST00000269980.7|NM_000709.4" HGNC:986 +HGNC:987 BCKDHB branched chain keto acid dehydrogenase E1 subunit beta protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "maple syrup urine disease|2-oxoisovalerate dehydrogenase subunit beta, mitochondrial" branched chain keto acid dehydrogenase E1, beta polypeptide 1989-06-30 2016-07-04 2021-05-26 594 ENSG00000083123 OTTHUMG00000016430 uc003pje.3 M55575 NM_000056 CCDS4994 P21953 MGI:88137 RGD:2197 248611 119005 HGNC:987 "ENST00000320393.9|NM_183050.4" HGNC:987 +HGNC:16902 BCKDK branched chain keto acid dehydrogenase kinase protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2005-01-20 2019-04-24 2021-05-26 10295 ENSG00000103507 OTTHUMG00000047356 uc059tky.1 AF026548 NM_005881 "CCDS61917|CCDS45467|CCDS10705" O14874 1889817 MGI:1276121 RGD:2198 614901 312680 objectId:1939 HGNC:16902 "ENST00000219794.11|NM_005881.4" HGNC:16902 +HGNC:990 BCL2 BCL2 apoptosis regulator protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "Bcl-2|PPP1R50" protein phosphatase 1, regulatory subunit 50 "B-cell CLL/lymphoma 2|BCL2, apoptosis regulator" "Protein phosphatase 1 regulatory subunits|BCL2 family" "694|1057" 2001-06-22 2019-01-25 2021-05-26 596 ENSG00000171791 OTTHUMG00000132791 uc002liu.2 M14745 "NM_000633|NM_000657" "CCDS11981|CCDS45882" P10415 MGI:88138 RGD:2199 LRG_1113|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1113.xml BCL2 151430 119007 objectId:2844 HGNC:990 "ENST00000333681.5|NM_000633.3" +HGNC:991 BCL2A1 BCL2 related protein A1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "GRS|BFL1|BCL2L5|ACC-1|ACC-2|ACC2|ACC1" HBPA1 "Minor histocompatibility antigens|BCL2 family" "870|1057" 1995-05-08 2016-01-13 2020-09-17 597 ENSG00000140379 OTTHUMG00000144173 uc002bfc.5 NM_004049 "CCDS10312|CCDS45322" Q16548 "8589678|12771180" "MGI:102687|MGI:1278326|MGI:1278325" RGD:620621 601056 HGNC:991 "ENST00000267953.4|NM_004049.4" +HGNC:992 BCL2L1 BCL2 like 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "BCLX|BCL2L|Bcl-X|bcl-xL|bcl-xS|PPP1R52" protein phosphatase 1, regulatory subunit 52 "Protein phosphatase 1 regulatory subunits|BCL2 family" "694|1057" 1997-10-30 2016-01-13 2020-09-17 598 ENSG00000171552 OTTHUMG00000032192 uc002wwl.4 Z23115 NM_138578 "CCDS13188|CCDS13189" Q07817 8358789 MGI:88139 RGD:2200 600039 objectId:2845 HGNC:992 "ENST00000307677.5|NM_138578.3" +HGNC:40095 BCL2L1-AS1 BCL2L1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 Antisense RNAs 1987 2019-07-24 2019-07-24 105372589 ENSG00000236559 OTTHUMG00000032185 XR_007067558 HGNC:40095 +HGNC:995 BCL2L2 BCL2 like 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA0271|BCL-W|PPP1R51" protein phosphatase 1, regulatory subunit 51 "Protein phosphatase 1 regulatory subunits|BCL2 family" "694|1057" 1997-07-22 2016-01-13 2020-09-17 599 ENSG00000129473 OTTHUMG00000028738 uc001wjg.4 D87461 NM_004050 CCDS9591 Q92843 8761287 MGI:108052 RGD:620717 601931 objectId:2846 HGNC:995 "ENST00000250405.10|NM_004050.5" +HGNC:42959 BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough other readthrough Approved 14q11.2 14q11.2 2011-09-28 2015-02-24 100529063 ENSG00000258643 OTTHUMG00000171498 uc001wjh.5 NM_001199864 CCDS55906 Q92843 HGNC:42959 +HGNC:993 BCL2L10 BCL2 like 10 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "Diva|Boo|BCL-B" BCL2-like 10 (apoptosis facilitator) BCL2 family 1057 1999-05-21 2016-01-13 2020-09-17 10017 ENSG00000137875 OTTHUMG00000131893 uc002abq.4 AF285092 NM_001306168 "CCDS76756|CCDS10148" Q9HD36 "9829980|9878060" MGI:1330841 RGD:621015 606910 HGNC:993 "ENST00000260442.3|NM_020396.4" +HGNC:994 BCL2L11 BCL2 like 11 protein-coding gene gene with protein product Approved 2q13 02q13 "BOD|BimL|BimEL|BimS|BIM" BCL2-like 11 (apoptosis facilitator) BCL2 homology region 3 (BH3) only 1277 1999-12-10 2016-01-13 2021-04-13 10018 ENSG00000153094 OTTHUMG00000131256 uc002tgv.2 AF032458 NM_001204106 "CCDS56131|CCDS2089|CCDS56132|CCDS56134|CCDS42731|CCDS74560|CCDS2092|CCDS56135|CCDS56136|CCDS74559|CCDS56133|CCDS74561" O43521 "9731710|9430630" MGI:1197519 RGD:628774 LRG_620|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_620.xml 603827 469980 HGNC:994 "ENST00000393256.8|NM_138621.5" +HGNC:13787 BCL2L12 BCL2 like 12 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 BCL2-like 12 (proline rich) BCL2 family 1057 2001-04-27 2016-01-13 2016-10-05 83596 ENSG00000126453 OTTHUMG00000183239 uc002ppa.4 AF289220 NM_052842 "CCDS74424|CCDS46144|CCDS74423" Q9HB09 MGI:1922986 RGD:1307361 610837 HGNC:13787 "ENST00000246784.8|NM_138639.2" +HGNC:51327 BCL2L12P1 BCL2 like 12 pseudogene 1 pseudogene pseudogene Approved 3q22.1 03q22.1 BCL2-like 12 (proline rich) pseudogene 1 2014-10-03 2016-01-13 2016-01-13 100289095 ENSG00000248530 OTTHUMG00000159630 NG_022270 PGOHUM00000299591 HGNC:51327 +HGNC:17164 BCL2L13 BCL2 like 13 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "MIL1|BCL-RAMBO" BCL2-like 13 (apoptosis facilitator) BCL2 family 1057 2002-09-20 2016-01-13 2019-08-23 23786 ENSG00000099968 OTTHUMG00000150088 uc002zmw.5 AF146568 NM_015367 "CCDS74811|CCDS86995|CCDS13746|CCDS59447|CCDS59448|CCDS74814|CCDS74813|CCDS74812|CCDS74810" Q9BXK5 "11262395|11381032|26146385" MGI:2136959 RGD:1306985 619822 HGNC:17164 "ENST00000317582.10|NM_015367.4" +HGNC:16657 BCL2L14 BCL2 like 14 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "BCLG|BCL-G" BCL2-like 14 (apoptosis facilitator) BCL2 family 1057 2004-02-09 2016-01-13 2016-10-05 79370 ENSG00000121380 OTTHUMG00000159528 uc058lhp.1 AF281254 NM_030766 "CCDS8645|CCDS8646" Q9BZR8 11054413 MGI:1914063 RGD:1562777 606126 HGNC:16657 "ENST00000308721.9|NM_138723.2" +HGNC:33624 BCL2L15 BCL2 like 15 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "Bfk|FLJ22588" C1orf178 chromosome 1 open reading frame 178 BCL2 family 1057 2007-09-24 2016-01-13 2016-01-13 440603 ENSG00000188761 OTTHUMG00000011940 uc001edw.4 NM_001010922 CCDS30809 Q5TBC7 "12700646|15961081|16690252|17412810" MGI:2685412 RGD:1562344 619660 HGNC:33624 "ENST00000393316.8|NM_001010922.3" +HGNC:998 BCL3 BCL3 transcription coactivator protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "B-cell lymphoma 3-encoded protein|B-cell leukemia/lymphoma 3|chronic lymphatic leukemia protein" "D19S37|BCL4" "B cell CLL/lymphoma 3|BCL3, transcription coactivator" "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 1986-01-01 2019-01-25 2020-09-17 602 ENSG00000069399 OTTHUMG00000151517 uc010xxe.3 M31732 NM_005178 CCDS12642 P20749 "1501714|2180580|23063365" MGI:88140 RGD:1589465 BCL3 109560 HGNC:998 "ENST00000164227.10|NM_005178.5" +HGNC:1001 BCL6 BCL6 transcription repressor protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "ZBTB27|LAZ3|BCL5|BCL6A" ZNF51 "zinc finger protein 51|B cell CLL/lymphoma 6|BCL6, transcription repressor" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1993-04-12 2019-01-25 2021-04-27 604 ENSG00000113916 OTTHUMG00000156441 uc003frq.3 NM_001706 "CCDS3289|CCDS46975" P41182 8057668 MGI:107187 RGD:1309345 BCL6 109565 158372 objectId:2957 HGNC:1001 "ENST00000406870.7|NM_001706.5" +HGNC:51843 BCL6-AS1 BCL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 lnc-RP11-211G3.3.1-1 BCL6 antisense 1 Antisense RNAs 1987 2017-08-03 2019-12-20 2019-12-20 106146153 26276666 +HGNC:1002 BCL6B BCL6B transcription repressor protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "ZBTB28|BAZF" ZNF62 "zinc finger protein 62|B-cell CLL/lymphoma 6, member B (zinc finger protein)|B-cell CLL/lymphoma 6, member B|B cell CLL/lymphoma 6B|BCL6B, transcription repressor" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2000-01-20 2019-01-25 2019-01-25 255877 ENSG00000161940 OTTHUMG00000177882 uc010clt.2 AI672318 NM_181844 CCDS42248 Q8N143 9632807 MGI:1278332 RGD:1563179 608992 HGNC:1002 "ENST00000293805.10|NM_181844.4" +HGNC:1004 BCL7A BAF chromatin remodeling complex subunit BCL7A protein-coding gene gene with protein product Approved 12q24.31 12q24.31 SMARCJ1 BCL7 "B-cell CLL/lymphoma 7A|BCL tumor suppressor 7A|BCL7A, BAF complex component" BAF complex 1604 1999-03-19 2019-01-25 2021-07-23 605 ENSG00000110987 OTTHUMG00000168951 uc001ubp.4 X89984 NM_001024808 "CCDS9226|CCDS53841" Q4VC05 "8605326|9931421|23644491" MGI:1924295 RGD:1585128 BCL7A 601406 HGNC:1004 "ENST00000261822.5|NM_001024808.3" +HGNC:1005 BCL7B BAF chromatin remodeling complex subunit BCL7B protein-coding gene gene with protein product Approved 7q11.23 07q11.23 SMARCJ2 "B-cell CLL/lymphoma 7B|BCL tumor suppressor 7B|BCL7B, BAF complex component" BAF complex 1604 1999-03-19 2019-01-25 2021-07-23 9275 ENSG00000106635 OTTHUMG00000023412 uc003tyf.3 X89985 NM_001707 "CCDS56489|CCDS5550|CCDS75613" Q9BQE9 "8605326|9806765|23644491" MGI:1332238 RGD:1597090 605846 HGNC:1005 "ENST00000223368.7|NM_001707.4" +HGNC:1006 BCL7C BAF chromatin remodeling complex subunit BCL7C protein-coding gene gene with protein product Approved 16p11.2 16p11.2 SMARCJ3 "B-cell CLL/lymphoma 7C|BCL tumor suppressor 7C|BCL7C, BAF complex component" "BAF complex|MicroRNA protein coding host genes" "1604|1691" 1999-03-19 2019-01-25 2021-07-23 9274 ENSG00000099385 OTTHUMG00000177719 uc002dzv.5 AJ223980 NM_004765 "CCDS67012|CCDS10693" Q8WUZ0 "9931421|23644491" MGI:1332237 RGD:1308439 605847 HGNC:1006 "ENST00000215115.5|NM_004765.4" +HGNC:1008 BCL9 BCL9 transcription coactivator protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "B cell CLL/lymphoma 9|BCL9, transcription coactivator" Wnt enhanceosome complex 1677 1997-07-01 2019-01-25 2020-09-17 607 ENSG00000116128 OTTHUMG00000014031 uc031uul.2 Y13620 NM_004326 CCDS30833 O00512 "11955446|9490669" MGI:1924828 RGD:1306934 BCL9 602597 469982 HGNC:1008 "ENST00000234739.8|NM_004326.4" +HGNC:23688 BCL9L BCL9 like protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "DLNB11|B9L|Bcl9-2" B cell CLL/lymphoma 9 like Wnt enhanceosome complex 1677 2003-12-09 2018-11-16 2019-08-21 283149 ENSG00000186174 OTTHUMG00000166414 uc001pug.5 AB094091 NM_182557 CCDS8403 Q86UU0 "12964048|15574752" MGI:1933114 RGD:1309096 BCL9L 609004 HGNC:23688 "ENST00000683865.1|NM_001378213.1" +HGNC:51328 BCL9P1 BCL9 pseudogene 1 pseudogene pseudogene Approved 5q13.1 05q13.1 B cell CLL/lymphoma 9 pseudogene 1 2014-10-03 2019-01-25 2019-01-25 100419324 ENSG00000249238 OTTHUMG00000162353 NG_024682 PGOHUM00000300980 HGNC:51328 +HGNC:989 BCL10 BCL10 immune signaling adaptor protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "CARMEN|CIPER|mE10|c-E10|CLAP" "CARD-like apoptotic protein|CARD-containing apoptotic signaling protein|CARD containing molecule enhancing NF-kB|caspase-recruiting domain-containing protein|CARD-containing proapoptotic protein" "B cell CLL/lymphoma 10|BCL10, immune signaling adaptor" "Caspase recruitment domain containing|CBM complex" "959|1405" 1999-01-08 2019-01-25 2021-05-26 8915 ENSG00000142867 OTTHUMG00000009965 uc021opd.3 AJ006288 NM_003921 CCDS704 O95999 9989495 MGI:1337994 RGD:620544 LRG_1210|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1210.xml BCL10 603517 454025 HGNC:989 "ENST00000648566.1|NM_003921.5" +HGNC:55868 BCL10-AS1 BCL10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.3 01p22.3 Antisense RNAs 1987 2021-09-06 2021-09-06 646626 ENSG00000223653 NR_045484 +HGNC:13221 BCL11A BAF chromatin remodeling complex subunit BCL11A protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "BCL11A-XL|BCL11A-L|BCL11A-S|CTIP1|HBFQTL5|ZNF856|SMARCM1" EVI9 "ecotropic viral integration site 9|B-cell CLL/lymphoma 11A (zinc finger protein)|B cell CLL/lymphoma 11A|BCL11A, BAF complex component" "Zinc fingers C2H2-type|BAF complex" "28|1604" 2001-02-28 2019-01-25 2021-07-23 53335 ENSG00000119866 OTTHUMG00000129420 uc002sae.2 AJ404611 NM_022893 "CCDS1861|CCDS46295|CCDS1862|CCDS86845" Q9H165 "11719382|18245381|23644491" MGI:106190 RGD:1309923 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=BCL11A BCL11A 606557 139145 HGNC:13221 "ENST00000642384.2|NM_022893.4" HGNC:13221 +HGNC:13222 BCL11B BAF chromatin remodeling complex subunit BCL11B protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "CTIP-2|CTIP2|hRIT1-alpha|SMARCM2" ZNF856B "B-cell CLL/lymphoma 11B (zinc finger protein)|B cell CLL/lymphoma 11B|BCL11B, BAF complex component" "Zinc fingers C2H2-type|BAF complex" "28|1604" 2001-02-28 2019-01-25 2021-07-23 64919 ENSG00000127152 OTTHUMG00000028967 uc001yga.5 AJ404614 NM_138576 "CCDS9950|CCDS9949" Q9C0K0 "11719382|16950772|23644491" MGI:1929913 RGD:1311128 BCL11B 606558 HGNC:13222 "ENST00000357195.8|NM_138576.4" HGNC:13222 +HGNC:16863 BCLAF1 BCL2 associated transcription factor 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "KIAA0164|BTF" BCLAF1 and THRAP3 family member 1 BCL2-associated transcription factor 1 WTAP complex 1420 2004-01-13 2016-01-28 2017-06-09 9774 ENSG00000029363 OTTHUMG00000033323 uc003qgx.1 AF249273 NM_014739 "CCDS5177|CCDS47486|CCDS47485|CCDS87444|CCDS75525" Q9NYF8 "8724849|10330179" MGI:1917580 RGD:1309704 612588 HGNC:16863 "ENST00000531224.6|NM_014739.3" +HGNC:51329 BCLAF1P1 BCL2 associated transcription factor 1 pseudogene 1 pseudogene pseudogene Approved 5q22.1 05q22.1 BCL2-associated transcription factor 1 pseudogene 1 2014-10-03 2016-01-28 2016-01-28 728366 ENSG00000248966 OTTHUMG00000163298 NG_005782 PGOHUM00000300710 HGNC:51329 +HGNC:51807 BCLAF1P2 BCL2 associated transcription factor 1 pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 BCL2-associated transcription factor 1 pseudogene 2 2015-06-09 2016-01-28 2016-01-28 731605 ENSG00000279800 OTTHUMG00000191386 XM_047435041 PGOHUM00000293564 HGNC:51807 +HGNC:27413 BCLAF3 BCLAF1 and THRAP3 family member 3 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 CXorf23 chromosome X open reading frame 23 2004-06-04 2017-06-09 2017-06-09 2020-04-02 256643 ENSG00000173681 OTTHUMG00000021226 uc004czp.4 AL833278 NM_198279 CCDS14194 A2AJT9 14702039 MGI:2685992 RGD:1562161 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf23 HGNC:27413 "ENST00000379682.9|NM_001367774.2" +HGNC:13815 BCO1 beta-carotene oxygenase 1 protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "FLJ10730|BCMO" "BCDO|BCDO1|BCMO1" "beta-carotene 15, 15'-dioxygenase 1|beta-carotene 15,15'-monooxygenase 1" 2000-11-13 2014-07-21 2014-07-21 2017-12-15 53630 ENSG00000135697 OTTHUMG00000137630 AF294900 NM_017429 CCDS10934 Q9HAY6 "10766819|10799297|24187135" MGI:1926923 RGD:70981 605748 204452 1.13.11.63 HGNC:13815 "ENST00000258168.7|NM_017429.3" HGNC:13815 +HGNC:18503 BCO2 beta-carotene oxygenase 2 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "FLJ34464|B-DIOX-II" "beta-carotene 9',10' oxygenase|carotenoid-9',10'-cleaving dioxygenase" BCDO2 beta-carotene dioxygenase 2 2002-04-10 2008-04-15 2008-04-15 2014-11-19 83875 ENSG00000197580 OTTHUMG00000167155 uc001pnf.4 AJ290393 NM_001037290 "CCDS58183|CCDS58182|CCDS41716|CCDS58181|CCDS8358" Q9BYV7 "11278918|15983114|15949678" MGI:2177469 RGD:1309022 611740 1.13.11.71 HGNC:18503 "ENST00000357685.11|NM_031938.7" +HGNC:20893 BCOR BCL6 corepressor protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "FLJ20285|KIAA1575" "BCL6 interacting corepressor|BCL-6 coreceptor" BCL6 co-repressor Ankyrin repeat domain containing 403 2003-05-22 2010-06-10 2021-05-26 54880 ENSG00000183337 OTTHUMG00000024100 uc004dep.5 AF317391 NM_017745 "CCDS48092|CCDS48093|CCDS14250" Q6W2J9 10898795 MGI:1918708 RGD:1562735 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BCOR|LRG_627|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_627.xml" BCOR 300485 119012 HGNC:20893 "ENST00000378444.9|NM_001123385.2" HGNC:20893 +HGNC:25657 BCORL1 BCL6 corepressor like 1 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 FLJ11362 CXorf10 "chromosome X open reading frame 10|BCL6 co-repressor-like 1" Ankyrin repeat domain containing 403 2004-07-27 2017-02-20 2021-04-13 63035 ENSG00000085185 OTTHUMG00000022379 uc065bbq.1 AL136450 NM_021946 CCDS14616 Q5H9F3 MGI:2443910 RGD:1566108 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BCORL1|LRG_628|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_628.xml" BCORL1 300688 469984 HGNC:25657 "ENST00000540052.6|NM_001379451.1" HGNC:25657 +HGNC:23953 BCORP1 BCL6 corepressor pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 FLJ39821 BCORL2 "BCL6 co-repressor-like 2|BCL6 corepressor-like 2" 2004-07-27 2010-09-30 2010-09-30 2021-10-07 286554 ENSG00000215580 OTTHUMG00000036498 AK097140 NR_033732 Q8N888 PGOHUM00000233784 HGNC:23953 +HGNC:1014 BCR BCR activator of RhoGEF and GTPase protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "D22S662|CML|PHL|ALL" "D22S11|BCR1" "breakpoint cluster region|BCR, RhoGEF and GTPase activating protein" "Pleckstrin homology domain containing|Dbl family Rho GEFs|C2 domain containing|My-T-BRC complex" "682|722|823|1632" 1986-01-01 2019-01-25 2021-04-13 613 ENSG00000186716 OTTHUMG00000150655 uc002zww.4 NM_004327 "CCDS13806|CCDS13807" P11274 "1657398|18070886" MGI:88141 RGD:1307993 LRG_1112|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1112.xml BCR 151410 119016 objectId:2755 HGNC:1014 "ENST00000305877.13|NM_004327.4" +HGNC:39073 BCRP1 BCR pseudogene 1 pseudogene pseudogene Approved 22q11.23 22q11.23 BCR-1 breakpoint cluster region pseudogene 1 2010-09-30 2019-01-25 2019-01-25 644079 ENSG00000225098 OTTHUMG00000150768 NG_009423 3267213 PGOHUM00000246290 HGNC:39073 +HGNC:1015 BCRP2 BCR pseudogene 2 pseudogene pseudogene Approved 22q11.21 22q11.21 BCR-2 "BCR2|BCRL2" "breakpoint cluster region-like 2|breakpoint cluster region pseudogene 2" 2001-06-22 2010-10-01 2019-01-25 2019-01-25 400892 ENSG00000169668 OTTHUMG00000150627 NG_007131 3267213 PGOHUM00000246420 HGNC:1015 +HGNC:1016 BCRP3 BCR pseudogene 3 pseudogene pseudogene Approved 22q11.23 22q11.23 "BCR3|BCRL6|BCRL3" "breakpoint cluster region-like 6|breakpoint cluster region-like 3|breakpoint cluster region pseudogene 3" 2001-06-22 2010-09-30 2019-01-25 2021-08-17 644165 ENSG00000215481 OTTHUMG00000150726 NR_024494 3267213 PGOHUM00000246539 HGNC:1016 +HGNC:1017 BCRP4 BCR pseudogene 4 pseudogene pseudogene Approved 22q11.22 22q11.22 BCR-4 "BCR4|BCRL4" "breakpoint cluster region-like 4|breakpoint cluster region pseudogene 4" 2001-06-22 2010-09-30 2019-01-25 2019-01-25 616 ENSG00000215456 OTTHUMG00000151175 D87002 NG_000002 9074928 PGOHUM00000246482 HGNC:1017 +HGNC:1018 BCRP5 BCR pseudogene 5 pseudogene pseudogene Approved 22q11.21 22q11.21 BCRL5 "breakpoint cluster region-like 5|breakpoint cluster region pseudogene 5" 1999-10-29 2010-10-01 2019-01-25 2019-01-25 648980 ENSG00000235062 OTTHUMG00000150757 NG_009418 10591208 PGOHUM00000246249 HGNC:1018 +HGNC:39074 BCRP6 BCR pseudogene 6 pseudogene pseudogene Approved 22q11.21 22q11.21 breakpoint cluster region pseudogene 6 2010-10-01 2019-01-25 2019-01-25 728468 ENSG00000169662 OTTHUMG00000150784 NG_009421 PGOHUM00000264293 HGNC:39074 +HGNC:39075 BCRP7 BCR pseudogene 7 pseudogene pseudogene Approved 22q11.21 22q11.21 breakpoint cluster region pseudogene 7 2010-10-01 2019-01-25 2019-01-25 100133163 ENSG00000215544 OTTHUMG00000030708 NG_009420 PGOHUM00000246224 HGNC:39075 +HGNC:39076 BCRP8 BCR pseudogene 8 pseudogene pseudogene Approved 22q11.23 22q11.23 breakpoint cluster region pseudogene 8 2010-10-01 2019-01-25 2019-01-25 100133044 ENSG00000236794 OTTHUMG00000155712 NG_032057 HGNC:39076 +HGNC:49113 BCRP9 BCR pseudogene 9 pseudogene pseudogene Approved 13q21.32 13q21.32 breakpoint cluster region pseudogene 9 2013-09-05 2019-01-25 2019-01-25 107126287 ENSG00000271287 OTTHUMG00000184867 NG_046622 PGOHUM00000248620 HGNC:49113 +HGNC:1020 BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone protein-coding gene gene with protein product Approved 2q35 02q35 "Hs.6719|BCS|h-BCS|BJS" "GRACILE syndrome|Bjornstad syndrome" "BCS1 (yeast homolog)-like|BCS1-like (yeast)|BCS1-like (S. cerevisiae)|BC1 (ubiquinol-cytochrome c reductase) synthesis-like" "AAA ATPases|Mitochondrial respiratory chain complex assembly factors" "413|645" 1998-07-03 2015-11-12 2021-04-13 617 ENSG00000074582 OTTHUMG00000133114 uc002viq.3 AF026849 NM_004328 CCDS2419 Q9Y276 "9878253|17314340|20727375" MGI:1914071 RGD:1359658 LRG_539|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_539.xml 603647 119021 HGNC:1020 "ENST00000359273.8|NM_001079866.2" HGNC:1020 +HGNC:1022 BCYRN1 brain cytoplasmic RNA 1 non-coding RNA RNA, long non-coding Approved 2p21 02p21 "BC200|BC200a|NCRNA00004|LINC00004" "brain cytoplasmic RNA 200-alpha|non-protein coding RNA 4|long intergenic non-protein coding RNA 4" "brain cytoplasmic RNA 1, Bc1 analog (mouse)|brain cytoplasmic RNA 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 1998-06-25 2012-08-16 2016-10-05 618 ENSG00000236824 OTTHUMG00000151778 uc032nmf.2 AF020057 NR_001568 "9858834|8265590|17553964|15240511|11399078" 606089 BC200 BCYRN1 HGNC:1022 +HGNC:1023 BCYRN1P1 brain cytoplasmic RNA 1, pseudogene 1 pseudogene pseudogene Approved Xq27.1 Xq27.1 BC200b 1998-06-25 2011-04-21 619 U01307 NG_003040 8265590 HGNC:1023 +HGNC:1024 BCYRN1P2 brain cytoplasmic RNA 1, pseudogene 2 pseudogene pseudogene Approved 1q41 not on reference assembly 01q41 not on reference assembly BC200g 1998-06-25 2015-02-09 620 U01308 NG_001085 8265590 +HGNC:39833 BCYRN1P3 brain cytoplasmic RNA 1, pseudogene 3 pseudogene pseudogene Approved 13q11 13q11 2011-03-30 2011-03-30 654337 NG_005375 8265590 HGNC:39833 +HGNC:1027 BDH1 3-hydroxybutyrate dehydrogenase 1 protein-coding gene gene with protein product Approved 3q29 03q29 SDR9C1 short chain dehydrogenase/reductase family 9C, member 1 BDH "3-hydroxybutyrate dehydrogenase (heart, mitochondrial)|3-hydroxybutyrate dehydrogenase, type 1" Short chain dehydrogenase/reductase superfamily 743 1993-08-26 2005-11-15 2016-12-12 2020-09-17 622 ENSG00000161267 OTTHUMG00000155478 uc003fxu.3 M93107 NM_004051 CCDS3328 Q02338 "1639787|19027726|21791085" MGI:1919161 RGD:620131 603063 1.1.1.30 HGNC:1027 "ENST00000392379.6|NM_203314.3" +HGNC:32389 BDH2 3-hydroxybutyrate dehydrogenase 2 protein-coding gene gene with protein product Approved 4q24 04q24 "UCPA-OR|FLJ13261|UNQ6308|PRO20933|SDR15C1" short chain dehydrogenase/reductase family 15C, member 1 DHRS6 "dehydrogenase/reductase (SDR family) member 6|3-hydroxybutyrate dehydrogenase, type 2" Short chain dehydrogenase/reductase superfamily 743 2005-11-22 2016-12-12 2016-12-12 56898 ENSG00000164039 OTTHUMG00000074039 uc003hwz.4 AF164790 NM_020139 CCDS3663 Q9BUT1 "16380372|19027726|21791085" MGI:1917022 RGD:1309898 1.1.1.30 HGNC:32389 "ENST00000296424.9|NM_020139.4" +HGNC:21476 BDH2P1 3-hydroxybutyrate dehydrogenase 2, pseudogene 1 pseudogene pseudogene Approved 6q16.2 06q16.2 bA758C21.1 DHRS6P1 "dehydrogenase/reductase (SDR family) member 6 pseudogene 1|3-hydroxybutyrate dehydrogenase, type 2 pseudogene 1" 2003-11-26 2006-01-16 2016-12-12 2016-12-12 389416 ENSG00000232699 OTTHUMG00000015260 NG_005299 21791085 HGNC:21476 +HGNC:1029 BDKRB1 bradykinin receptor B1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "BKR1|B1BKR|bradyb1" Bradykinin receptors 223 1993-04-07 2020-09-17 623 ENSG00000100739 OTTHUMG00000171412 uc001yfh.4 L42383 NM_000710 CCDS9943 P46663 8808279 MGI:88144 RGD:620401 600337 objectId:41 HGNC:1029 "ENST00000216629.11|NM_000710.4" +HGNC:1030 BDKRB2 bradykinin receptor B2 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 BK-2 Bradykinin receptors 223 1993-04-07 2020-09-17 624 ENSG00000168398 OTTHUMG00000171408 uc001yfg.3 S56772 NM_000623 CCDS9942 P30411 7916737 MGI:102845 RGD:2201 113503 objectId:42 HGNC:1030 "ENST00000554311.2|NM_001379692.1" +HGNC:1033 BDNF brain derived neurotrophic factor protein-coding gene gene with protein product Approved 11p14.1 11p14.1 neurotrophin Neurotrophins 1585 1991-01-15 2016-06-01 2020-09-17 627 ENSG00000176697 OTTHUMG00000178797 uc001mrz.5 AB038670 NM_170735 "CCDS44558|CCDS41628|CCDS7866|CCDS7865" P23560 "2236018|1889806|17942328|17493809" MGI:88145 RGD:2202 113505 119027 ligandId:4872 HGNC:1033 "ENST00000356660.9|NM_001709.5" +HGNC:20608 BDNF-AS BDNF antisense RNA non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 "BT2A|BT2B|BT2C|BT2D|NCRNA00049|BDNF-AS1|BDNFAS" "non-protein coding RNA 49|BDNF antisense RNA 1 (non-protein coding)" BDNFOS "BDNF opposite strand (non-protein coding)|BDNF antisense RNA (non-protein coding)" Antisense RNAs 1987 2005-02-01 2012-05-03 2012-08-15 2017-08-09 497258 ENSG00000245573 uc001mrq.5 AY054391 NR_002832 "15666411|22446693|28777258" 611468 BDNF-AS HGNC:20608 +HGNC:13652 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "TFIIIB150|TFC5|TFIIIB90|KIAA1689|HSA238520|KIAA1241" "TFNR|TAF3B1" TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1 "Myb/SANT domain containing|General transcription factor IIIB complex subunits " "532|1879" 2000-09-27 2001-11-30 2001-11-29 2016-03-01 55814 ENSG00000145734 OTTHUMG00000162506 uc003kbp.2 AF298151 NM_018429 CCDS43328 A6H8Y1 "11214970|11040218" MGI:1347077 RGD:1308512 607012 469986 HGNC:13652 "ENST00000358731.9|NM_018429.3" HGNC:13652 +HGNC:31044 BDP1P B double prime 1 pseudogene pseudogene pseudogene Approved 18q23 18q23 2008-01-31 2014-10-03 724038 ENSG00000264736 OTTHUMG00000179339 NG_005602 HGNC:31044 +HGNC:24160 BEAN1 brain expressed associated with NEDD4 1 protein-coding gene gene with protein product Approved 16q21 16q21 SCA31 spinocerebellar ataxia 31 2010-10-05 2017-02-22 2021-05-26 146227 ENSG00000166546 OTTHUMG00000173370 uc021tjl.2 BC000818 NM_001136106 "CCDS58469|CCDS54015" Q3B7T3 "11042109|8619474|23607545" MGI:1929597 RGD:1562003 612051 326090 HGNC:24160 "ENST00000536005.7|NM_001178020.3" HGNC:24160 +HGNC:51114 BEAN1-AS1 BEAN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q21 16q21 Antisense RNAs 1987 2014-07-30 2014-07-30 101927726 ENSG00000261656 OTTHUMG00000175781 NR_109960 BEAN1-AS1 HGNC:51114 +HGNC:1034 BECN1 beclin 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "ATG6|VPS30" ATG6 autophagy related 6 homolog (S. cerevisiae) "beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)|beclin 1, autophagy related" "Autophagy related|PIK3C3 complex subunits|MicroRNA protein coding host genes" "1022|1596|1691" 1998-11-27 2016-04-28 2020-09-17 8678 ENSG00000126581 OTTHUMG00000180653 uc002ibn.3 AF077301 NM_003766 "CCDS11441|CCDS82132" Q14457 9765397 MGI:1891828 RGD:620190 604378 HGNC:1034 "ENST00000590099.6|NM_001313998.2" +HGNC:51330 BECN1P2 beclin 1 pseudogene 2 pseudogene pseudogene Approved 6q13 06q13 beclin 1, autophagy related, pseudogene 2 2014-10-03 2016-04-28 2016-04-28 100420149 ENSG00000219669 OTTHUMG00000014998 NG_025950 PGOHUM00000301842 HGNC:51330 +HGNC:38606 BECN2 beclin 2 protein-coding gene gene with protein product Approved 1q43 01q43 BECN1P1 beclin 1, autophagy related, pseudogene 1 2010-06-29 2015-02-27 2015-02-27 2015-05-06 441925 ENSG00000196289 OTTHUMG00000039863 NM_001290693 CCDS81433 A8MW95 23954414 MGI:2684950 RGD:1563293 615687 PGOHUM00000296838 HGNC:38606 "ENST00000419583.2|NM_001290693.1" +HGNC:24163 BEGAIN brain enriched guanylate kinase associated protein-coding gene gene with protein product Approved 14q32.2 14q32.2 KIAA1446 "brain-enriched guanylate kinase-associated homolog (rat)|brain-enriched guanylate kinase-associated" 2007-08-16 2015-11-19 2017-03-21 57596 ENSG00000183092 OTTHUMG00000171589 uc001yhq.4 BC002607 NM_020836 CCDS9962 Q9BUH8 10819331 MGI:3044626 RGD:708347 618597 HGNC:24163 "ENST00000554140.3|NM_001385089.1" +HGNC:28509 BEND2 BEN domain containing 2 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 MGC33653 CXorf20 chromosome X open reading frame 20 BEN domain containing 422 2004-06-02 2008-10-03 2008-10-03 2020-04-02 139105 ENSG00000177324 OTTHUMG00000021211 uc004cyj.5 AK128155 NM_153346 "CCDS55375|CCDS14184" Q8NDZ0 29348602 RGD:7741042 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BEND2 HGNC:28509 "ENST00000380033.9|NM_153346.5" +HGNC:23040 BEND3 BEN domain containing 3 protein-coding gene gene with protein product Approved 6q21 06q21 KIAA1553 KIAA1553 BEN domain containing 422 2003-11-21 2008-10-03 2008-10-03 2014-11-18 57673 ENSG00000178409 OTTHUMG00000015308 uc063qjz.1 AB046773 NM_020913 CCDS34507 Q5T5X7 MGI:2677212 RGD:1596570 616374 HGNC:23040 "ENST00000369042.6|NM_001367314.1" +HGNC:45014 BEND3P1 BEN domain containing 3 pseudogene 1 pseudogene pseudogene Approved 10q11.23 10q11.23 2013-01-08 2014-10-03 644459 ENSG00000231345 OTTHUMG00000018236 NG_011921 PGOHUM00000290159 HGNC:45014 +HGNC:45015 BEND3P2 BEN domain containing 3 pseudogene 2 pseudogene pseudogene Approved 9q22.31 09q22.31 2013-01-08 2014-10-03 392368 ENSG00000224809 OTTHUMG00000020220 NG_011923 PGOHUM00000304387 HGNC:45015 +HGNC:45016 BEND3P3 BEN domain containing 3 pseudogene 3 pseudogene pseudogene Approved 10q22.3 10q22.3 2013-01-08 2014-10-03 650623 ENSG00000278616 OTTHUMG00000187848 NR_027512 PGOHUM00000290215 HGNC:45016 +HGNC:23815 BEND4 BEN domain containing 4 protein-coding gene gene with protein product Approved 4p13 04p13 "FLJ35632|FLJ43965" CCDC4 coiled-coil domain containing 4 BEN domain containing 422 2005-06-22 2008-10-03 2008-10-03 2015-08-24 389206 ENSG00000188848 OTTHUMG00000160531 uc003gwn.4 AK092951 NM_207406 CCDS47048 Q6ZU67 MGI:3648414 RGD:1584735 HGNC:23815 "ENST00000502486.6|NM_207406.4" +HGNC:25668 BEND5 BEN domain containing 5 protein-coding gene gene with protein product Approved 1p33 01p33 FLJ11588 C1orf165 chromosome 1 open reading frame 165 BEN domain containing 422 2005-07-19 2008-10-03 2008-10-03 2017-11-27 79656 ENSG00000162373 OTTHUMG00000008153 uc001crx.5 BC007932 NM_024603 CCDS552 Q7L4P6 23468431 MGI:1914871 RGD:1584958 HGNC:25668 "ENST00000371833.4|NM_024603.4" +HGNC:20871 BEND6 BEN domain containing 6 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "FLJ30162|bA203B9.1" C6orf65 chromosome 6 open reading frame 65 BEN domain containing 422 2003-05-07 2008-10-03 2008-10-03 2014-11-18 221336 ENSG00000151917 OTTHUMG00000014914 uc010kab.4 AK054724 NM_152731 "CCDS43476|CCDS83102" Q5SZJ8 MGI:2444572 RGD:1310392 HGNC:20871 "ENST00000370746.8|NM_152731.3" +HGNC:23514 BEND7 BEN domain containing 7 protein-coding gene gene with protein product Approved 10p13 10p13 FLJ40283 C10orf30 chromosome 10 open reading frame 30 BEN domain containing 422 2003-11-21 2008-10-03 2008-10-03 2016-10-05 222389 ENSG00000165626 OTTHUMG00000017699 uc001imm.3 BC031618 NM_152751 "CCDS41490|CCDS7099" Q8N7W2 MGI:2443100 RGD:1305898 HGNC:23514 "ENST00000466271.3|NM_001369863.1" +HGNC:55819 BEND7-DT BEND7 divergent transcript non-coding RNA RNA, long non-coding Approved 10p13 10p13 Divergent transcripts 1990 2021-07-30 2021-07-30 105376421 ENSG00000227175 XR_930674 +HGNC:51362 BEND7P1 BEN domain containing 7 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2014-10-15 2014-10-15 100419793 ENSG00000230320 OTTHUMG00000022058 NG_026866 PGOHUM00000305221 HGNC:51362 +HGNC:12703 BEST1 bestrophin 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "BMD|BEST|RP50" Best disease VMD2 vitelliform macular dystrophy 2 Bestrophins 866 1992-11-25 2006-10-18 2006-10-18 2021-05-26 7439 ENSG00000167995 OTTHUMG00000167469 uc001nss.4 AF057170 NM_004183 "CCDS44623|CCDS86208|CCDS31580" O76090 "1302019|17003041" MGI:1346332 RGD:1311656 VMD2 Mutation Database @ Institute of Human Genetics, University of Regensburg|http://www-huge.uni-regensburg.de/BEST1_database/home.php 607854 119029 HGNC:12703 "ENST00000378043.9|NM_004183.4" HGNC:12703 +HGNC:17107 BEST2 bestrophin 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 FLJ20132 VMD2L1 vitelliform macular dystrophy 2-like 1 Bestrophins 866 2003-12-03 2006-10-18 2006-10-18 2015-08-24 54831 ENSG00000039987 OTTHUMG00000169293 uc060ucm.1 AF440756 NM_017682 CCDS42506 Q8NFU1 "12032738|16912113" MGI:2387588 RGD:1305377 607335 HGNC:17107 "ENST00000553030.6|NM_017682.3" +HGNC:17105 BEST3 bestrophin 3 protein-coding gene gene with protein product Approved 12q15 12q15 "MGC40411|MGC13168" VMD2L3 vitelliform macular dystrophy 2-like 3 Bestrophins 866 2003-12-03 2006-10-18 2006-10-18 2020-04-20 144453 ENSG00000127325 OTTHUMG00000149919 uc001svg.3 AF440758 NM_152439 "CCDS8992|CCDS61193|CCDS61192|CCDS41810|CCDS73496" Q8N1M1 12032738 MGI:3580298 RGD:1305439 607337 ligandId:5377 HGNC:17105 "ENST00000330891.10|NM_032735.3" +HGNC:17106 BEST4 bestrophin 4 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 VMD2L2 vitelliform macular dystrophy 2-like 2 Bestrophins 866 2003-12-03 2006-10-18 2006-10-18 2015-01-28 266675 ENSG00000142959 OTTHUMG00000008488 uc001cmm.4 AF440757 NM_153274 CCDS514 Q8NFU0 "12032738|16702355" RGD:1596200 607336 HGNC:17106 "ENST00000372207.4|NM_153274.3" +HGNC:14562 BET1 Bet1 golgi vesicular membrane trafficking protein protein-coding gene gene with protein product Approved 7q21.3 07q21.3 hbet1 "Golgi vesicular membrane trafficking protein p18|Bet1p homolog" "Bet1 (S. cerevisiae) homolog|BET1 homolog (S. cerevisiae)|blocked early in transport 1 homolog (S. cerevisiae)" SNAREs 1124 2001-04-05 2013-03-08 2016-10-05 10282 ENSG00000105829 OTTHUMG00000023487 uc003unf.2 AF007551 NM_005868 "CCDS5635|CCDS83203" O15155 "9382863|10449330" MGI:1343104 RGD:2203 605456 HGNC:14562 "ENST00000222547.8|NM_005868.6" +HGNC:40690 BET1-AS1 BET1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 Antisense RNAs 1987 2019-07-24 2019-07-24 105375403 ENSG00000236861 OTTHUMG00000155775 HGNC:40690 +HGNC:19348 BET1L Bet1 golgi vesicular membrane trafficking protein like protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "GS15|GOLIM3" golgi integral membrane protein 3 "blocked early in transport 1 homolog (S. cerevisiae) like|blocked early in transport 1 homolog (S. cerevisiae)-like|Bet1 golgi vesicular membrane trafficking protein-like" SNAREs 1124 2002-10-08 2015-11-24 2015-11-24 51272 ENSG00000177951 OTTHUMG00000119071 uc001loe.3 AF234160 NM_016526 "CCDS7689|CCDS41582" Q9NYM9 "9242691|15004235" MGI:1913128 RGD:71051 615417 HGNC:19348 "ENST00000382762.8|NM_001098787.2" +HGNC:51363 BET1P1 Bet1 golgi vesicular membrane trafficking protein pseudogene 1 pseudogene pseudogene Approved 7q36.1 07q36.1 2014-10-15 2014-10-15 100128542 ENSG00000241134 OTTHUMG00000157576 NG_031907 PGOHUM00000303026 HGNC:51363 +HGNC:1036 BEX1 brain expressed X-linked 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 Brain expressed X-linked family 1217 2000-03-22 2015-11-11 2022-01-06 55859 ENSG00000133169 OTTHUMG00000022708 uc004ejt.2 NM_018476 CCDS35354 Q9HBH7 16221301 "MGI:1338017|MGI:1328321" 300690 HGNC:1036 "ENST00000372728.4|NM_018476.4" +HGNC:30933 BEX2 brain expressed X-linked 2 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 DJ79P11.1 Brain expressed X-linked family 1217 2004-03-24 2022-01-06 84707 ENSG00000133134 OTTHUMG00000022095 uc004ekb.3 BC015522 NM_032621 "CCDS14505|CCDS55467" Q9BXY8 16221301 "MGI:1328321|MGI:1338017" RGD:1564466 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BEX2 300691 HGNC:30933 "ENST00000372677.8|NM_032621.4" +HGNC:13388 BEX3 brain expressed X-linked 3 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "HGR74|Bex|NADE|DXS6984E" NGFRAP1 nerve growth factor receptor (TNFRSF16) associated protein 1 Brain expressed X-linked family 1217 2001-09-19 2016-02-15 2016-02-15 2016-02-15 27018 ENSG00000166681 OTTHUMG00000022099 uc004eki.5 AF187064 NM_014380 "CCDS14508|CCDS14509" Q00994 "10764727|16221301|2171551" MGI:1338016 RGD:3148 300361 HGNC:13388 "ENST00000361298.9|NM_206917.3" +HGNC:25475 BEX4 brain expressed X-linked 4 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 FLJ10097 BEXL1 "brain expressed X-linked-like 1|BEX family member 4" Brain expressed X-linked family 1217 2004-03-24 2007-08-24 2015-11-11 2020-04-02 56271 ENSG00000102409 OTTHUMG00000022091 uc004ejv.5 AL035494 NM_001080425 CCDS35355 Q9NWD9 "15958283|16221301" MGI:3606746 RGD:1564749 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BEX4 300692 HGNC:25475 "ENST00000372695.6|NM_001080425.4" +HGNC:27990 BEX5 brain expressed X-linked 5 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 NGFRAP1L1 "NGFRAP1-like 1|BEX family member 5" Brain expressed X-linked family 1217 2005-01-26 2007-08-24 2015-11-11 2016-10-19 340542 ENSG00000184515 OTTHUMG00000022049 uc004eir.4 BC042818 NM_001159560 CCDS35350 Q5H9J7 16221301 RGD:6488322 300693 HGNC:27990 "ENST00000333643.4|NM_001012978.3" +HGNC:17613 BFAR bifunctional apoptosis regulator protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "BAR|RNF47" "Ring finger proteins|Sterile alpha motif domain containing" "58|760" 2002-05-29 2016-10-05 51283 ENSG00000103429 OTTHUMG00000129848 uc002dco.4 AF173003 NM_016561 "CCDS10554|CCDS81947" Q9NZS9 10716992 MGI:1914368 RGD:1304791 619516 HGNC:17613 "ENST00000261658.7|NM_016561.3" +HGNC:1040 BFSP1 beaded filament structural protein 1 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "CP94|CP115|LIFL-H|filensin" beaded filament structural protein 1, filensin Beaded filament structural proteins 613 1998-07-23 2015-12-07 2020-09-17 631 ENSG00000125864 OTTHUMG00000031940 uc002wpo.4 Y16717 NM_001195 "CCDS63229|CCDS54448|CCDS13126" Q12934 9787085 MGI:101770 RGD:2205 603307 160055 HGNC:1040 HGNC:1040 "ENST00000377873.8|NM_001195.5" HGNC:1040 +HGNC:1041 BFSP2 beaded filament structural protein 2 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "CP47|CP49|LIFL-L|phakinin" beaded filament structural protein 2, phakinin Beaded filament structural proteins 613 1999-04-14 2015-12-15 2020-09-17 8419 ENSG00000170819 OTTHUMG00000159719 uc003epn.3 U48224 NM_003571 CCDS33859 Q13515 MGI:1333828 RGD:1591927 Human Intermediate Filament Mutation Database|http://www.interfil.org/ 603212 119034 HGNC:1041 HGNC:1041 "ENST00000302334.3|NM_003571.4" HGNC:1041 +HGNC:28425 BFSP2-AS1 BFSP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q22.1 03q22.1 MGC2848 Antisense RNAs 1987 2013-09-02 2013-09-02 85003 ENSG00000249993 OTTHUMG00000159721 NR_135276 12477932 BFSP2-AS1 HGNC:28425 +HGNC:1043 BGLAP bone gamma-carboxyglutamate protein protein-coding gene gene with protein product Approved 1q22 01q22 OCN "osteocalcin|bone gla protein" bone gamma-carboxyglutamate (gla) protein Gla domain containing 1250 1989-06-30 2016-02-23 2020-09-17 632 ENSG00000242252 OTTHUMG00000014819 uc001fnt.4 X04143 NM_199173 CCDS1134 P02818 "2785029|2394711" "MGI:88156|MGI:88157|MGI:88155" RGD:2206 112260 469990 HGNC:1043 "ENST00000368272.5|NM_199173.6" +HGNC:49033 BGLT3 beta globin locus transcript 3 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 "LINC01083|BGL3|lncRNA-BGL3" "long intergenic non-protein coding RNA 1083|beta globin locus 3" beta globin locus transcript 3 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-06-01 2018-05-16 2018-05-16 103344929 ENSG00000260629 OTTHUMG00000173138 "AY034471|KF110790" NR_121648 "24837367|23975195|22010104" 616308 lncrna-bgl3 BGLT3 HGNC:49033 +HGNC:1044 BGN biglycan protein-coding gene gene with protein product Approved Xq28 Xq28 "DSPG1|SLRR1A" biglycan proteoglycan Small leucine rich repeat proteoglycans 573 1989-07-18 2021-05-26 633 ENSG00000182492 OTTHUMG00000024205 uc004fhr.3 AK092954 NM_001711 CCDS14721 P21810 1612609 MGI:88158 RGD:2207 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BGN 301870 461354 HGNC:1044 "ENST00000331595.9|NM_001711.6" HGNC:1044 +HGNC:35126 BHLHA9 basic helix-loop-helix family member a9 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 BHLHF42 Fingerin basic helix-loop-helix family, member a9 Basic helix-loop-helix proteins 420 2009-01-09 2015-11-18 2021-05-26 727857 ENSG00000205899 OTTHUMG00000132192 uc021tnd.2 NM_001164405 CCDS45560 Q7RTU4 "14516699|18557763" MGI:2444198 RGD:1311234 615416 292035 HGNC:35126 "ENST00000391429.2|NM_001164405.2" HGNC:35126 +HGNC:22265 BHLHA15 basic helix-loop-helix family member a15 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 MIST1 BHLHB8 "basic helix-loop-helix domain containing, class B, 8|basic helix-loop-helix family, member a15" Basic helix-loop-helix proteins 420 2005-07-04 2009-01-12 2015-11-18 2020-04-30 168620 ENSG00000180535 OTTHUMG00000154289 uc003upe.2 BK000276 NM_177455 CCDS5655 Q7RTS1 "14516699|18557763" MGI:891976 RGD:3091 608606 HGNC:22265 "ENST00000609256.2|NM_177455.4" +HGNC:29353 BHLHB9 basic helix-loop-helix family member b9 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "p60TRP|KIAA1701|GASP3" p60-transcription-regulator-protein basic helix-loop-helix domain containing, class B, 9 "Armadillo repeat containing|Basic helix-loop-helix proteins" "409|420" 2004-09-17 2017-02-27 2020-07-28 80823 ENSG00000198908 OTTHUMG00000022060 uc011mrr.3 AB051488 NM_030639 CCDS14502 Q6PI77 "11214970|15034937|16221301" MGI:1917487 RGD:1303224 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BHLHB9 300921 469992 HGNC:29353 "ENST00000457056.6|NM_001142524.2" +HGNC:51373 BHLHB9P1 basic helix-loop-helix family member b9 pseudogene 1 pseudogene pseudogene Approved 14q31.1 14q31.1 basic helix-loop-helix domain containing, class B, 9 pseudogene 1 2014-10-16 2017-02-27 2017-02-27 100431177 ENSG00000258915 OTTHUMG00000171430 NG_021251 PGOHUM00000292736 HGNC:51373 +HGNC:11963 BHLHE22 basic helix-loop-helix family member e22 protein-coding gene gene with protein product Approved 8q12.3 08q12.3 "CAGL85|Beta3" "TNRC20|BHLHB5" "trinucleotide repeat containing 20|basic helix-loop-helix domain containing, class B, 5|basic helix-loop-helix family, member e22" Basic helix-loop-helix proteins 420 2000-01-27 2009-01-12 2015-11-18 2020-04-30 27319 ENSG00000180828 OTTHUMG00000164386 uc003xvi.4 U80755 NM_152414 CCDS6179 Q8NFJ8 "9225980|12213201|18557763" MGI:1930001 RGD:1305451 613483 HGNC:11963 "ENST00000321870.3|NM_152414.5" +HGNC:56147 BHLHE22-AS1 BHLHE22 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q12.3 08q12.3 Antisense RNAs 1987 2022-01-12 2022-01-19 401463 ENSG00000254102 NR_015374 +HGNC:16093 BHLHE23 basic helix-loop-helix family member e23 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "bA305P22.3|Beta4" BHLHB4 "basic helix-loop-helix domain containing, class B, 4|basic helix-loop-helix family, member e23" Basic helix-loop-helix proteins 420 2001-07-17 2009-01-12 2015-11-18 2020-04-30 128408 ENSG00000125533 OTTHUMG00000032948 uc002yeb.4 AL121673 NM_080606 CCDS33507 Q8NDY6 "11863370|18557763" MGI:2153710 RGD:1559760 609331 HGNC:16093 "ENST00000612929.2|NM_080606.4" +HGNC:1046 BHLHE40 basic helix-loop-helix family member e40 protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "DEC1|SHARP2|Clast5" "differentially expressed in chondrocytes 1|differentiated embryo chondrocyte expressed gene 1" "STRA13|BHLHB2" "basic helix-loop-helix domain containing, class B, 2|basic helix-loop-helix family, member e40" Basic helix-loop-helix proteins 420 1999-08-25 2009-01-12 2015-11-18 2022-03-08 8553 ENSG00000134107 OTTHUMG00000119035 uc003bqf.4 AB004066 NM_003670 CCDS2565 O14503 "9240428|10449910|18557763" MGI:1097714 RGD:68439 604256 HGNC:1046 "ENST00000256495.4|NM_003670.3" +HGNC:44471 BHLHE40-AS1 BHLHE40 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p26.1 03p26.1 Antisense RNAs 1987 2012-11-01 2012-11-01 100507582 ENSG00000235831 OTTHUMG00000155242 uc032rcj.1 "AK056892|AK311646" NR_037903 BHLHE40-AS1 HGNC:44471 +HGNC:16617 BHLHE41 basic helix-loop-helix family member e41 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "DEC2|SHARP-1|SHARP1" "differentially expressed in chondrocytes 2|Enhancer-of-split and hairy-related protein 1" BHLHB3 "basic helix-loop-helix domain containing, class B, 3|basic helix-loop-helix family, member e41" Basic helix-loop-helix proteins 420 2001-09-26 2009-01-12 2015-11-18 2020-04-30 79365 ENSG00000123095 OTTHUMG00000169174 uc001rhb.4 AB044088 NM_030762 CCDS8706 Q9C0J9 "11162494|18557763" MGI:1930704 RGD:70900 606200 HGNC:16617 "ENST00000242728.5|NM_030762.3" +HGNC:1047 BHMT betaine--homocysteine S-methyltransferase protein-coding gene gene with protein product Approved 5q14.1 05q14.1 BHMT1 betaine homocysteine methyltransferase Homocysteine methyltransferases 2065 1997-06-09 2010-04-28 2020-09-17 635 ENSG00000145692 OTTHUMG00000108157 uc003kfu.5 BC012616 NM_001713 CCDS4046 Q93088 "8798461|9281325" MGI:1339972 RGD:621496 602888 469994 2.1.1.5 HGNC:1047 "ENST00000274353.10|NM_001713.3" +HGNC:1048 BHMT2 betaine--homocysteine S-methyltransferase 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 Homocysteine methyltransferases 2065 1999-08-27 2010-04-28 2020-09-17 23743 ENSG00000132840 OTTHUMG00000108158 uc003kft.4 NM_017614 "CCDS54871|CCDS4045" Q9H2M3 "11087663|18230605" MGI:1891379 RGD:1359418 605932 2.1.1.5 HGNC:1048 "ENST00000255192.8|NM_017614.5" +HGNC:19351 BICC1 BicC family RNA binding protein 1 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 bicaudal C homolog 1 (Drosophila) Sterile alpha motif domain containing 760 2002-10-08 2014-02-03 2021-05-26 80114 ENSG00000122870 OTTHUMG00000018271 uc001jki.2 AK026129 NM_025044 CCDS31206 Q9H694 21922595 MGI:1933388 RGD:1307459 LRG_853|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_853.xml 614295 292175 HGNC:19351 "ENST00000373886.8|NM_001080512.3" HGNC:19351 +HGNC:1049 BICD1 BICD cargo adaptor 1 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "Bicaudal D (Drosophila) homolog 1|bicaudal D homolog 1 (Drosophila)" 1997-03-19 2016-03-29 2020-09-17 636 ENSG00000151746 OTTHUMG00000169307 uc001rku.4 U90028 NM_001714 "CCDS44859|CCDS86290|CCDS8726" Q96G01 9367685 MGI:1101760 RGD:1309444 602204 469996 HGNC:1049 "ENST00000652176.1|NM_001714.4" +HGNC:55475 BICD1-AS1 BICD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 Antisense RNAs 1987 2021-03-11 2021-03-11 120766143 ENSG00000257530 +HGNC:51374 BICD1P1 BICD cargo adaptor 1 pseudogene 1 pseudogene pseudogene Approved 2q33.1 02q33.1 bicaudal D homolog 1 (Drosophila) pseudogene 1 2014-10-16 2016-06-06 2016-06-06 391472 ENSG00000224346 OTTHUMG00000154576 NG_021598 PGOHUM00000298829 HGNC:51374 +HGNC:17208 BICD2 BICD cargo adaptor 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 KIAA0699 bicaudal D homolog 2 (Drosophila) 2003-11-14 2016-03-29 2021-05-26 23299 ENSG00000185963 OTTHUMG00000021036 uc004aso.2 AB014599 NM_015250 "CCDS6700|CCDS35064" Q8TD16 9734811 MGI:1924145 RGD:735093 609797 365105 HGNC:17208 "ENST00000356884.11|NM_001003800.2" HGNC:17208 +HGNC:28095 BICDL1 BICD family like cargo adaptor 1 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "FLJ26450|BICDR-1" Bicaudal D related 1 CCDC64 coiled-coil domain containing 64 2006-01-24 2016-05-03 2016-05-03 2016-05-03 92558 ENSG00000135127 OTTHUMG00000169311 uc001txl.2 "U88834|AK129960" NM_207311 CCDS41845 Q6ZP65 "20360680|26822037" MGI:1922915 RGD:1310292 617002 HGNC:28095 "ENST00000548673.6|NM_001367886.1" +HGNC:33584 BICDL2 BICD family like cargo adaptor 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 CCDC64B coiled-coil domain containing 64B 2007-08-06 2016-05-03 2016-05-03 2016-11-16 146439 ENSG00000162069 OTTHUMG00000177452 uc059ptp.1 BC128602 NM_001103175 CCDS45393 A1A5D9 MGI:2388267 RGD:1306729 617003 HGNC:33584 "ENST00000572449.6|NM_001369667.1" +HGNC:4332 BICRA BRD4 interacting chromatin remodeling complex associated protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 SMARCK1 GLTSCR1 glioma tumor suppressor candidate region gene 1 GBAF complex 1606 2000-02-29 2017-03-21 2017-04-21 2021-07-23 29998 ENSG00000063169 OTTHUMG00000183263 uc002phh.4 AF182077 NM_015711 CCDS46134 Q9NZM4 "10708517|21555454" MGI:2154263 RGD:1306385 605690 HGNC:4332 "ENST00000594866.3|NM_001394372.1" +HGNC:51588 BICRA-AS1 BICRA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 GLTSCR1-AS1 GLTSCR1 antisense RNA 1 Antisense RNAs 1987 2015-03-11 2017-03-21 2017-03-21 2017-03-21 106144534 ENSG00000269806 OTTHUMG00000183264 DB210983 +HGNC:21111 BICRAL BICRA like chromatin remodeling complex associated protein protein-coding gene gene with protein product Approved 6p21.1 06p21.1 SMARCK2 "KIAA0240|GLTSCR1L" "KIAA0240|GLTSCR1-like|GLTSCR1 like|BRD4 interacting chromatin remodeling complex associated protein like" GBAF complex 1606 2003-11-21 2017-03-21 2021-07-08 2021-07-23 23506 ENSG00000112624 OTTHUMG00000014706 uc063onx.1 AL833540 NM_015349 CCDS34451 Q6AI39 29374058 MGI:2673855 RGD:1305680 618502 HGNC:21111 "ENST00000314073.10|NM_001393499.1" +HGNC:1050 BID BH3 interacting domain death agonist protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "Receptor ligands|BCL2 homology region 3 (BH3) only|MicroRNA protein coding host genes" "542|1277|1691" 1998-04-20 2020-09-17 637 ENSG00000015475 OTTHUMG00000150087 uc002znd.3 AF042083 NM_197966 "CCDS13747|CCDS13748|CCDS13749" P55957 "8918887|9721221" MGI:108093 RGD:620160 601997 ligandId:5152 HGNC:1050 "ENST00000622694.5|NM_001196.4" +HGNC:1051 BIK BCL2 interacting killer protein-coding gene gene with protein product Approved 22q13.2 22q13.2 NBK natural born killer BCL2-interacting killer (apoptosis-inducing) BCL2 homology region 3 (BH3) only 1277 1996-10-26 2016-04-26 2020-09-17 638 ENSG00000100290 OTTHUMG00000150703 uc003bdk.3 U34584 NM_001197 CCDS14044 Q13323 "7478623|10591208" MGI:1206591 RGD:621547 603392 HGNC:1051 "ENST00000216115.3|NM_001197.5" +HGNC:1052 BIN1 bridging integrator 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "SH3P9|AMPH2" amphiphysin II AMPHL N-BAR domain containing 1289 2000-05-19 2021-05-26 274 ENSG00000136717 OTTHUMG00000131465 uc002tns.3 U68485 NM_139343 "CCDS82508|CCDS46403|CCDS2139|CCDS2140|CCDS42743|CCDS42744|CCDS2143|CCDS2138|CCDS2141|CCDS2142|CCDS2137" O00499 "8725406|8782822|17676042" MGI:108092 RGD:621786 LRG_873|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_873.xml 601248 139150 HGNC:1052 "ENST00000316724.10|NM_139343.3" HGNC:1052 +HGNC:1053 BIN2 bridging integrator 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 BRAP-1 N-BAR domain containing 1289 2000-05-25 2020-09-17 51411 ENSG00000110934 OTTHUMG00000185197 uc001ryg.4 AF146531 NM_001290007 CCDS76561 Q9UBW5 10903846 MGI:3611448 RGD:1306789 605936 HGNC:1053 "ENST00000615107.6|NM_016293.4" +HGNC:43660 BIN2P1 bridging integrator 2 pseudogene 1 pseudogene pseudogene Approved 4q21.22 04q21.22 2012-01-23 2012-01-23 2014-02-12 345258 ENSG00000234568 OTTHUMG00000160953 NG_022065 PGOHUM00000245980 HGNC:43660 +HGNC:43661 BIN2P2 bridging integrator 2 pseudogene 2 pseudogene pseudogene Approved 5q13.3 05q13.3 2012-01-23 2012-01-23 2016-07-22 644601 ENSG00000248684 OTTHUMG00000162507 NG_021885 PGOHUM00000301016 HGNC:43661 +HGNC:1054 BIN3 bridging integrator 3 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 N-BAR domain containing 1289 2000-05-25 2020-09-17 55909 ENSG00000147439 OTTHUMG00000163844 uc003xcl.5 NM_001363046 "CCDS87587|CCDS47825" Q9NQY0 16524918 MGI:1929883 RGD:1308253 606396 HGNC:1054 "ENST00000276416.11|NM_018688.6" +HGNC:25868 BIN3-IT1 BIN3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 FLJ14107 BIN3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2013-06-07 2015-02-25 2016-11-24 80094 "AK024169|DN996902" NR_027715 12477932 HGNC:25868 +HGNC:590 BIRC2 baculoviral IAP repeat containing 2 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 "cIAP1|hiap-2|MIHB|RNF48|c-IAP1" "NFR2-TRAF signalling complex protein|apoptosis inhibitor 1" API1 baculoviral IAP repeat-containing 2 "Ring finger proteins|Baculoviral IAP repeat containing|Caspase recruitment domain containing" "58|419|959" 1998-06-10 2011-01-25 2020-09-17 329 ENSG00000110330 OTTHUMG00000167325 uc001pgy.5 L49431 NM_001166 "CCDS58169|CCDS8316" Q13490 "8552191|8548810" MGI:1197009 RGD:620690 601712 objectId:2791 HGNC:590 "ENST00000227758.7|NM_001166.5" +HGNC:591 BIRC3 baculoviral IAP repeat containing 3 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 "cIAP2|hiap-1|MIHC|RNF49|MALT2|c-IAP2" "apoptosis inhibitor 2|TNFR2-TRAF signaling complex protein|mammalian IAP homolog C|inhibitor of apoptosis protein 1" API2 baculoviral IAP repeat-containing 3 "Ring finger proteins|Baculoviral IAP repeat containing|Caspase recruitment domain containing" "58|419|959" 1998-06-10 2011-01-25 2021-04-13 330 ENSG00000023445 OTTHUMG00000167324 uc058guu.1 L49432 NM_001165 CCDS8315 Q13489 "8552191|8548810" MGI:1197007 RGD:621282 LRG_1423|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1423.xml BIRC3 601721 201152 I32.003 objectId:2792 HGNC:591 "ENST00000263464.9|NM_001165.5" +HGNC:593 BIRC5 baculoviral IAP repeat containing 5 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "EPR-1|survivin" API4 "apoptosis inhibitor 4|baculoviral IAP repeat-containing 5" "Baculoviral IAP repeat containing|Chromosomal passenger complex" "419|1338" 1998-06-10 2011-01-25 2022-01-28 332 ENSG00000089685 OTTHUMG00000177505 uc002jvg.4 U75285 NM_001168 "CCDS32751|CCDS11755|CCDS32752" O15392 "8106347|7947793" MGI:1203517 RGD:70499 603352 469998 I32.005 objectId:2795 HGNC:593 "ENST00000350051.8|NM_001168.3" +HGNC:13516 BIRC6 baculoviral IAP repeat containing 6 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 BRUCE apollon baculoviral IAP repeat-containing 6 "Ubiquitin conjugating enzymes E2|Baculoviral IAP repeat containing|MicroRNA protein coding host genes" "102|419|1691" 2000-09-19 2011-01-25 2014-11-19 57448 ENSG00000115760 OTTHUMG00000150528 uc010ezu.4 AF265555 NM_016252 CCDS33175 Q9NR09 10544019 MGI:1276108 RGD:1307247 605638 I32.006 objectId:2796 HGNC:13516 "ENST00000421745.7|NM_016252.4" +HGNC:40641 BIRC6-AS1 BIRC6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 BIRC6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2014-11-19 100874009 ENSG00000230046 OTTHUMG00000152106 uc061hxx.1 22196729 BIRC6-AS1 +HGNC:50490 BIRC6-AS2 BIRC6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 megamind Antisense RNAs 1987 2014-05-05 2018-08-15 103752586 ENSG00000279897 OTTHUMG00000189406 "AA883483|BX093813" NR_125793 22196729 megamind HGNC:50490 +HGNC:13702 BIRC7 baculoviral IAP repeat containing 7 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "mliap|ML-IAP|KIAP|RNF50" "melanoma inhibitor of apoptosis protein|kidney inhibitor of apoptosis protein|livin inhibitor-of-apoptosis|livin" baculoviral IAP repeat-containing 7 "Ring finger proteins|Baculoviral IAP repeat containing|MicroRNA protein coding host genes" "58|419|1691" 2001-03-06 2011-01-25 2016-10-05 79444 ENSG00000101197 OTTHUMG00000032957 uc002yej.4 AF301009 NM_139317 "CCDS13513|CCDS13512" Q96CA5 "11024045|11162435" MGI:2676458 RGD:1562883 605737 I32.007 objectId:2794 HGNC:13702 "ENST00000217169.8|NM_139317.3" +HGNC:14878 BIRC8 baculoviral IAP repeat containing 8 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ILP-2|hILP2|RNF136" "IAP-like protein 2|inhibitor of apoptosis-like protein 2" baculoviral IAP repeat-containing 8 "Ring finger proteins|Baculoviral IAP repeat containing" "58|419" 2001-08-23 2011-01-25 2019-04-04 112401 ENSG00000163098 OTTHUMG00000182919 uc002qbk.4 AF164682 NR_159880 Q96P09 11390657 MGI:107572 I32.008 objectId:2797 HGNC:14878 +HGNC:51290 BISPR BST2 interferon stimulated positive regulator non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 BST2 interferon stimulated positive regulator (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2015-02-04 2018-05-16 2018-06-08 105221694 ENSG00000282851 OTTHUMG00000182856 NR_130765 "25620967|29856242" BISPR HGNC:51290 +HGNC:16034 BIVM basic, immunoglobulin-like variable motif containing protein-coding gene gene with protein product Approved 13q33.1 13q33.1 FLJ20159 2001-08-16 2015-08-24 54841 ENSG00000134897 OTTHUMG00000017309 uc001vps.4 AF411385 NM_001159596 "CCDS9505|CCDS53879" Q86UB2 12036287 MGI:2179809 RGD:1311888 619006 HGNC:16034 "ENST00000257336.6|NM_017693.4" +HGNC:43690 BIVM-ERCC5 BIVM-ERCC5 readthrough other readthrough Approved 13q33.1 13q33.1 2013-05-10 2013-05-10 100533467 ENSG00000270181 OTTHUMG00000184166 AB209312 NM_001204425 HGNC:43690 +HGNC:48597 BLACAT1 BLACAT1 overlapping LEMD1 locus protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "linc-UBC1|LINC00912|onco-lncRNA-30" "long intergenic noncoding RNA up-regulated in bladder cancer|long intergenic non-protein coding RNA 912" "bladder cancer associated transcript 1 (non-protein coding)|bladder cancer associated transcript 1" 2013-05-21 2021-11-17 2021-11-17 101669762 ENSG00000281406 OTTHUMG00000189561 BX640973 NM_001397426 23688781 615480 blacat1 HGNC:48597 +HGNC:20484 BLACE B cell acute lymphoblastic leukemia expressed non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Long non-coding RNAs with non-systematic symbols 1992 2003-03-18 2017-12-06 2017-12-06 338436 ENSG00000204960 OTTHUMG00000151351 uc033aqq.2 AY166699 NR_103545 A4D250 14667812 608450 HGNC:20484 +HGNC:1055 BLCAP BLCAP apoptosis inducing factor protein-coding gene gene with protein product Approved 20q11.23 20q11.23 BC10 bladder cancer associated protein 2000-05-26 2019-01-22 2020-09-17 10904 ENSG00000166619 OTTHUMG00000032419 uc002xhc.3 AF053470 NM_006698 CCDS13295 P62952 "10197429|26986503|17031575" MGI:1858907 RGD:621666 613110 HGNC:1055 "ENST00000373537.7|NM_006698.4" +HGNC:33495 BLID BH3-like motif containing, cell death inducer protein-coding gene gene with protein product Approved 11q24.1 11q24.1 BRCC2 breast cancer cell 2 2007-06-22 2019-04-15 414899 ENSG00000259571 OTTHUMG00000166060 uc001pyf.3 AF303179 NM_001001786 CCDS31693 Q8IZY5 "15069058|26629946" 608853 HGNC:33495 "ENST00000560104.2|NM_001001786.3" +HGNC:1057 BLK BLK proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 8p23.1 08p23.1 MGC10442 B lymphoid tyrosine kinase "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1995-05-17 2014-06-25 2020-09-17 640 ENSG00000136573 OTTHUMG00000090729 uc003wty.4 BC004473 NM_001330465 "CCDS83251|CCDS5982" P51451 7845672 MGI:88169 RGD:1308859 191305 227384 objectId:1940 HGNC:1057 "ENST00000259089.9|NM_001715.3" HGNC:1057 +HGNC:1058 BLM BLM RecQ like helicase protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "BS|RECQL3|RECQ2" "Bloom syndrome|Bloom syndrome RecQ like helicase" RecQ like helicases 1049 1992-11-06 2018-08-08 2021-04-13 641 ENSG00000197299 OTTHUMG00000149834 uc002bpr.5 U39817 NM_000057 "CCDS10363|CCDS73782" P54132 9388193 MGI:1328362 RGD:1308810 "BLMbase: Mutation registry for Bloom Syndrome|http://structure.bmc.lu.se/idbase/BLMbase/|LRG_20|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_20.xml" BLM 604610 123406 HGNC:1058 "ENST00000355112.8|NM_000057.4" HGNC:1058 +HGNC:1059 BLMH bleomycin hydrolase protein-coding gene gene with protein product Approved 17q11.2 17q11.2 BH Peptidase family C1 2109 1998-03-11 2020-09-17 642 ENSG00000108578 OTTHUMG00000179756 uc002hez.3 X92106 NM_000386 CCDS32604 Q13867 "9407121|9331073" MGI:1345186 RGD:1304668 602403 365648 C01.084 3.4.22.40 HGNC:1059 "ENST00000261714.11|NM_000386.4" +HGNC:14211 BLNK B cell linker protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "SLP65|Ly57|SLP-65|BLNK-s|BASH|bca" "B-cell adapter containing a SH2 domain protein|B-cell activation|Src homology [SH2] domain-containing leukocyte protein of 65 kD|B cell adaptor containing SH2 domain" SH2 domain containing 741 2001-07-16 2017-12-06 2021-04-13 29760 ENSG00000095585 OTTHUMG00000018827 uc001kls.5 AF068180 NM_013314 "CCDS73171|CCDS7446|CCDS44464|CCDS58091" Q8WV28 "9697839|10583958" MGI:96878 RGD:1561933 "BLNKbase: Mutation registry for BLNK deficiency|http://structure.bmc.lu.se/idbase/BLNKbase/|LRG_21|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_21.xml" 604515 236971 HGNC:14211 "ENST00000224337.10|NM_013314.4" HGNC:14211 +HGNC:4200 BLOC1S1 biogenesis of lysosomal organelles complex 1 subunit 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "BLOS1|BORCS1" "GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1|BLOC-1 Subunit 1|Biogenesis of Lysosome-related Organelles complex-1 Subunit 1" GCN5L1 GCN5 general control of amino-acid synthesis 5-like 1 (yeast) "Biogenesis of lysosomal organelles complex 1 subunits|BLOC-1 related complex subunits" "452|1048" 1995-11-15 2004-05-26 2016-01-15 2016-10-05 2647 ENSG00000135441 OTTHUMG00000169962 uc001shi.5 S82447 NM_001487 CCDS8889 P78537 "8646881|15102850" MGI:1195276 RGD:1307564 601444 HGNC:4200 "ENST00000548925.6|NM_001487.4" +HGNC:20984 BLOC1S2 biogenesis of lysosomal organelles complex 1 subunit 2 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "MGC10120|FLJ30135|BLOS2|BORCS2" "centrosome protein oncogene|Biogenesis of Lysosome-related Organelles complex-1 Subunit 2|BLOC-1 subunit 2" "Biogenesis of lysosomal organelles complex 1 subunits|BLOC-1 related complex subunits" "452|1048" 2004-05-24 2016-01-15 2016-01-15 282991 ENSG00000196072 OTTHUMG00000018908 uc001kqw.3 AK054697 NM_173809 "CCDS73179|CCDS7490" Q6QNY1 "11483580|15102850" MGI:1920939 RGD:1306551 609768 HGNC:20984 "ENST00000370372.7|NM_173809.5" +HGNC:51427 BLOC1S2P1 BLOC1S2 pseudogene 1 pseudogene pseudogene Approved Xq11.2 Xq11.2 biogenesis of lysosomal organelles complex-1, subunit 2 pseudogene 1 2014-11-21 2019-01-18 2019-01-18 100131924 ENSG00000236982 OTTHUMG00000021711 NG_030157 PGOHUM00000304665 HGNC:51427 +HGNC:20914 BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "BLOS3|HPS8" "BLOC-1 subunit 3|Biogenesis of Lysosome-related Organelles complex-1 Subunit 3|Hermansky-Pudlak syndrome 8" Biogenesis of lysosomal organelles complex 1 subunits 452 2004-05-24 2016-01-15 2021-05-26 388552 ENSG00000189114 OTTHUMG00000181776 uc002pax.5 AY531266 NM_212550 CCDS12656 Q6QNY0 15102850 MGI:2678952 RGD:1591724 LRG_546|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_546.xml 609762 119045 HGNC:20914 "ENST00000433642.3|NM_212550.5" HGNC:20914 +HGNC:24206 BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "FLJ11230|BCAS4L" CNO cappuccino homolog (mouse) Biogenesis of lysosomal organelles complex 1 subunits 452 2005-03-03 2012-08-01 2016-01-15 2016-01-15 55330 ENSG00000186222 OTTHUMG00000125510 uc003gjp.2 BC001818 NM_018366 CCDS3393 Q9NUP1 "12576321|11110696" MGI:1929230 RGD:1306037 605695 HGNC:24206 "ENST00000320776.5|NM_018366.3" +HGNC:18561 BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "MU|dJ303A1.3" MUTED muted homolog (mouse) Biogenesis of lysosomal organelles complex 1 subunits 452 2004-01-16 2012-08-01 2016-01-15 2021-11-17 63915 ENSG00000188428 OTTHUMG00000014220 uc003mxy.3 AF426434 NM_201280 "CCDS4506|CCDS75394" Q8TDH9 "11912185|32565547" MGI:2178598 RGD:1306846 607289 HGNC:18561 "ENST00000397457.7|NM_201280.3" HGNC:18561 +HGNC:42001 BLOC1S5-TXNDC5 BLOC1S5-TXNDC5 readthrough (NMD candidate) other readthrough Approved 6p24.3 06p24.3 MUTED-TXNDC5 MUTED-TXNDC5 readthrough (non-protein coding) 2011-05-31 2012-08-01 2013-05-09 2014-11-19 100526836 ENSG00000259040 OTTHUMG00000171453 uc063lrt.1 NR_037616.1 HGNC:42001 +HGNC:8549 BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 HPS9 BLOC-1 subunit pallidin "PA|PLDN" "pallid (mouse) homolog, pallidin|pallidin homolog (mouse)" Biogenesis of lysosomal organelles complex 1 subunits 452 2000-01-21 2012-08-01 2016-01-15 2021-05-26 26258 ENSG00000104164 OTTHUMG00000131477 uc001zvq.4 AF080470 NM_012388 "CCDS10126|CCDS81878" Q9UL45 10610180 MGI:1927580 RGD:1310208 LRG_883|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_883.xml 604310 280669 HGNC:8549 "ENST00000220531.9|NM_012388.4" HGNC:8549 +HGNC:54899 BLOC1S6P1 BLOC1S6 pseudogene 1 pseudogene pseudogene Approved Xp22.13 Xp22.13 2020-04-17 2020-04-17 100130035 ENSG00000196564 NG_042304 +HGNC:1062 BLVRA biliverdin reductase A protein-coding gene gene with protein product Approved 7p13 07p13 BLVR 2001-06-22 2020-09-17 644 ENSG00000106605 OTTHUMG00000128953 uc003tir.4 BC008456 NM_000712 CCDS5472 P53004 MGI:88170 RGD:620721 109750 281690 1.3.1.24 HGNC:1062 "ENST00000265523.9|NM_000712.4" HGNC:1062 +HGNC:1063 BLVRB biliverdin reductase B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 SDR43U1 short chain dehydrogenase/reductase family 43U, member 1 FLR "Flavin reductase|biliverdin reductase B (flavin reductase (NADPH))" Short chain dehydrogenase/reductase superfamily 743 1995-04-13 2014-11-21 2022-03-07 645 ENSG00000090013 OTTHUMG00000182593 uc002onw.3 D26308 NM_000713 CCDS33029 P30043 "7656592|19027726" MGI:2385271 RGD:1306080 600941 "1.3.1.24|1.5.1.30" HGNC:1063 "ENST00000263368.9|NM_000713.3" +HGNC:1065 BLZF1 basic leucine zipper nuclear factor 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 JEM-1 golgin-45 1999-06-21 2008-08-01 2020-09-17 8548 ENSG00000117475 OTTHUMG00000035453 uc001gfy.4 U79751 NM_003666 "CCDS81397|CCDS1278" Q9H2G9 "9129147|28049725" MGI:1201607 RGD:1562452 608692 HGNC:1065 "ENST00000367808.8|NM_001320973.2" +HGNC:20049 BLZF2P basic leucine zipper nuclear factor 2, pseudogene pseudogene pseudogene Approved 14q24.1 14q24.1 2003-01-13 2019-07-30 2019-07-30 317729 ENSG00000258565 OTTHUMG00000171760 NG_002462 PGOHUM00000247841 HGNC:20049 +HGNC:19213 BMERB1 bMERB domain containing 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 FLJ32618 C16orf45 chromosome 16 open reading frame 45 2004-12-02 2019-02-21 2019-02-21 2019-02-21 89927 ENSG00000166780 OTTHUMG00000129883 uc002ddo.4 AK057180 NM_033201 "CCDS10561|CCDS45422" Q96MC5 27552051 MGI:1914504 RGD:1305733 HGNC:19213 "ENST00000300006.9|NM_033201.3" +HGNC:24132 BMF Bcl2 modifying factor protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ00065 BCL2 homology region 3 (BH3) only 1277 2004-01-16 2016-10-05 90427 ENSG00000104081 OTTHUMG00000129875 uc001zkw.6 BC060783 NM_033503 "CCDS45223|CCDS32196|CCDS10052" Q96LC9 11546872 MGI:2176433 RGD:628658 606266 HGNC:24132 "ENST00000354670.9|NM_001003940.2" +HGNC:53612 BMF-AS1 BMF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 Antisense RNAs 1987 2017-07-06 2017-07-06 110806288 ENSG00000259409 OTTHUMG00000172394 +HGNC:1066 BMI1 BMI1 proto-oncogene, polycomb ring finger protein-coding gene gene with protein product Approved 10p12.2 10p12.2 RNF51 PCGF4 "polycomb group ring finger 4|B lymphoma Mo-MLV insertion region 1 homolog (mouse)" "Ring finger proteins|Polycomb group ring fingers" "58|61" 1994-01-05 2006-04-26 2014-06-26 2020-09-17 648 ENSG00000168283 OTTHUMG00000017807 uc001irh.4 BC011652 NM_005180 CCDS7138 P35226 8268912 MGI:88174 RGD:1307403 164831 HGNC:1066 "ENST00000376663.8|NM_005180.9" +HGNC:51428 BMI1P1 BMI1 proto-oncogene, polycomb ring finger pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 lnc-OPHN1-5 2014-11-21 2021-09-22 100127902 ENSG00000234201 OTTHUMG00000021739 NG_011910 PGOHUM00000304678 HGNC:51428 +HGNC:54188 BMNCR bone marrow associated non-coding RNA non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Long non-coding RNAs with non-systematic symbols 1992 2019-02-27 2019-02-27 107985249 XR_001738390 30352426 MGI:5590788 618553 HGNC:54188 +HGNC:1067 BMP1 bone morphogenetic protein 1 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 BMP-1 "procollagen C-endopeptidase|tolloid-like" PCOLC procollagen C-endopeptidase "Bone morphogenetic proteins|Astacins" "455|894" 1990-06-11 2004-08-09 2021-05-26 649 ENSG00000168487 OTTHUMG00000097761 uc003xbg.5 NM_006132 "CCDS6026|CCDS34856" P13497 2004778 MGI:88176 RGD:620739 112264 287069 M12.005 objectId:2333 3.4.24.19 HGNC:1067 "ENST00000306385.10|NM_006129.5" HGNC:1067 +HGNC:1069 BMP2 bone morphogenetic protein 2 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 BMP2A Bone morphogenetic proteins 455 1990-06-11 2021-05-26 650 ENSG00000125845 OTTHUMG00000031833 uc002wmu.2 NM_001200 CCDS13099 P12643 2376592 MGI:88177 RGD:2211 112261 179459 ligandId:4881 HGNC:1069 "ENST00000378827.5|NM_001200.4" HGNC:1069 +HGNC:18041 BMP2K BMP2 inducible kinase protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "DKFZp434K0614|BIKe" MicroRNA protein coding host genes 1691 2003-07-21 2015-09-11 55589 ENSG00000138756 OTTHUMG00000160900 uc003hlj.4 AB015331 NM_017593 "CCDS34019|CCDS47083" Q9NSY1 MGI:2155456 RGD:1564828 617648 objectId:1941 HGNC:18041 "ENST00000502613.3|NM_198892.2" +HGNC:55396 BMP2K-DT BMP2K divergent transcript non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 Divergent transcripts 1990 2020-12-21 2020-12-21 119863864 ENSG00000260278 +HGNC:17080 BMP2KL BMP2 inducible kinase like (pseudogene) pseudogene pseudogene Approved Xq13.2 Xq13.2 BMP2 inducible kinase-like 2004-08-16 2019-01-21 2020-04-02 347359 ENSG00000204113 OTTHUMG00000021848 XM_293293 Q5H9B9 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BMP2KL PGOHUM00000262171 HGNC:17080 +HGNC:1070 BMP3 bone morphogenetic protein 3 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 osteogenin bone morphogenetic protein 3 (osteogenic) Bone morphogenetic proteins 455 1990-06-11 2008-05-22 2020-09-17 651 ENSG00000152785 OTTHUMG00000130292 uc003hmg.4 M22491 NM_001201 CCDS3588 P12645 MGI:88179 RGD:2212 112263 470002 ligandId:4882 HGNC:1070 "ENST00000282701.4|NM_001201.5" +HGNC:1071 BMP4 bone morphogenetic protein 4 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 BMP2B Bone morphogenetic proteins 455 1990-06-11 2021-05-26 652 ENSG00000125378 OTTHUMG00000140303 uc001xan.6 AF035427 NM_001202 CCDS9715 P12644 "7558046|7579580" MGI:88180 RGD:2213 112262 140047 ligandId:4883 HGNC:1071 "ENST00000245451.9|NM_001202.6" HGNC:1071 +HGNC:1072 BMP5 bone morphogenetic protein 5 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 Bone morphogenetic proteins 455 1991-06-05 2020-09-17 653 ENSG00000112175 OTTHUMG00000014903 uc003pcq.4 NM_001329754 CCDS4958 P22003 "1427904|11580864" MGI:88181 RGD:1305979 112265 470004 ligandId:4884 HGNC:1072 "ENST00000370830.4|NM_021073.4" +HGNC:1073 BMP6 bone morphogenetic protein 6 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 VGR1 VGR vegetal related growth factor (TGFB-related) Bone morphogenetic proteins 455 1991-06-05 2003-10-06 2021-05-26 654 ENSG00000153162 OTTHUMG00000014217 uc003mxu.5 AF083030 NM_001718 CCDS4503 P22004 "1427904|1453478" MGI:88182 RGD:2214 112266 456982 ligandId:4885 HGNC:1073 "ENST00000283147.7|NM_001718.6" HGNC:1073 +HGNC:19329 BMP6P1 bone morphogenetic protein 6 pseudogene 1 pseudogene pseudogene Approved 22q11.22 22q11.22 2002-10-03 2016-10-05 266700 ENSG00000236323 OTTHUMG00000150994 NG_000002 PGOHUM00000246447 HGNC:19329 +HGNC:1074 BMP7 bone morphogenetic protein 7 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 OP-1 osteogenic protein 1 Bone morphogenetic proteins 455 1991-06-05 2008-05-22 2020-09-17 655 ENSG00000101144 OTTHUMG00000032812 uc010gip.2 NM_001719 CCDS13455 P18075 1427904 MGI:103302 RGD:620743 112267 470006 ligandId:4886 HGNC:1074 "ENST00000395863.8|NM_001719.3" HGNC:1074 +HGNC:40096 BMP7-AS1 BMP7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.31 20q13.31 Antisense RNAs 1987 2014-08-08 2014-11-19 102723590 ENSG00000235032 OTTHUMG00000032810 NR_110631 BMP7-AS1 HGNC:40096 +HGNC:21650 BMP8A bone morphogenetic protein 8a protein-coding gene gene with protein product Approved 1p34.3 01p34.3 OP-2 Bone morphogenetic proteins 455 2003-10-17 2019-07-17 353500 ENSG00000183682 OTTHUMG00000008394 uc001cdi.4 AY303954 NM_181809 CCDS437 Q7Z5Y6 MGI:104515 RGD:1585858 ligandId:4887 HGNC:21650 "ENST00000331593.6|NM_181809.4" +HGNC:1075 BMP8B bone morphogenetic protein 8b protein-coding gene gene with protein product Approved 1p34.2 01p34.2 OP-2 osteogenic protein 2 BMP8 bone morphogenetic protein 8 (osteogenic protein 2) Bone morphogenetic proteins 455 1995-11-02 2003-10-22 2008-05-22 2020-09-17 656 ENSG00000116985 OTTHUMG00000009247 uc001cdz.2 BC023526 NM_001720 CCDS444 P34820 "1460021|9070944" MGI:107335 602284 ligandId:4888 HGNC:1075 "ENST00000372827.8|NM_001720.5" +HGNC:54364 BMP8B-AS1 BMP8B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Antisense RNAs 1987 2019-05-17 2019-05-17 105378666 ENSG00000285905 XR_947220 HGNC:54364 +HGNC:20869 BMP10 bone morphogenetic protein 10 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 Bone morphogenetic proteins 455 2003-04-16 2021-05-26 27302 ENSG00000163217 OTTHUMG00000129573 uc002sez.1 AF101441 NM_014482 CCDS1890 O95393 10072785 MGI:1338820 RGD:1562986 LRG_403|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_403.xml 608748 470000 ligandId:4875 HGNC:20869 "ENST00000295379.2|NM_014482.3" HGNC:20869 +HGNC:1068 BMP15 bone morphogenetic protein 15 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 GDF9B Bone morphogenetic proteins 455 1999-01-29 2021-05-26 9210 ENSG00000130385 OTTHUMG00000021525 uc011mnw.3 AF082349 NM_005448 CCDS14334 O95972 9849956 MGI:1316745 RGD:70990 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BMP15 300247 158386 ligandId:4880 HGNC:1068 "ENST00000252677.4|NM_005448.2" HGNC:1068 +HGNC:24154 BMPER BMP binding endothelial regulator protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "Cv2|CRIM3" crossveinless-2 Cysteine rich transmembrane BMP regulators 1660 2005-07-25 2021-05-26 168667 ENSG00000164619 OTTHUMG00000128675 uc011kap.2 NM_133468 CCDS5442 Q8N8U9 "12897139|14766204" MGI:1920480 RGD:1563373 LRG_1276|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1276.xml 608699 244395 HGNC:24154 "ENST00000649409.2|NM_001365308.1" HGNC:24154 +HGNC:1076 BMPR1A bone morphogenetic protein receptor type 1A protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "ALK3|CD292" ACVRLK3 bone morphogenetic protein receptor, type IA "Type 1 receptor serine/threonine kinases|CD molecules" "345|471" 1994-12-12 2016-01-26 2021-05-26 657 ENSG00000107779 OTTHUMG00000018657 uc001kdy.4 BC028383 NM_004329 CCDS7378 P36894 "8397373|9730621" MGI:1338938 RGD:70989 LRG_298|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_298.xml BMPR1A 601299 119048 objectId:1786 CD292 HGNC:1076 "ENST00000372037.8|NM_004329.3" HGNC:1076 +HGNC:21742 BMPR1AP1 bone morphogenetic protein receptor type 1A pseudogene 1 pseudogene pseudogene Approved 6q22.33 06q22.33 BMPR1APS1 bone morphogenetic protein receptor, type IA pseudogene 1 2003-07-21 2018-05-23 2016-01-26 2018-05-23 100421515 ENSG00000219642 OTTHUMG00000015544 NG_025866 10051328 PGOHUM00000243360 HGNC:21742 +HGNC:21743 BMPR1AP2 bone morphogenetic protein receptor type 1A pseudogene 2 pseudogene pseudogene Approved 11q24.1 11q24.1 BMPR1APS2 bone morphogenetic protein receptor, type IA pseudogene 2 2003-07-21 2018-05-23 2016-01-26 2018-05-23 100533800 ENSG00000232460 OTTHUMG00000166069 NG_028805 PGOHUM00000242511 HGNC:21743 +HGNC:1077 BMPR1B bone morphogenetic protein receptor type 1B protein-coding gene gene with protein product Approved 4q22.3 04q22.3 "ALK6|CDw293" bone morphogenetic protein receptor, type IB "Type 1 receptor serine/threonine kinases|CD molecules" "345|471" 1997-03-19 2016-01-26 2021-05-26 658 ENSG00000138696 OTTHUMG00000130991 uc003htm.5 D89675 NM_001203 "CCDS3642|CCDS58919" O00238 "8140412|9730621" MGI:107191 RGD:1595863 603248 119053 objectId:1789 CDw293 HGNC:1077 "ENST00000515059.6|NM_001203.3" HGNC:1077 +HGNC:50864 BMPR1B-DT BMPR1B divergent transcript non-coding RNA RNA, long non-coding Approved 4q22.3 04q22.3 TCONS_00007797 BMPR1B-AS1 BMPR1B antisense RNA 1 (head to head) Divergent transcripts 1990 2014-07-14 2018-03-21 2018-03-21 2018-03-21 100507012 ENSG00000249599 OTTHUMG00000161193 NR_121610 BMPR1B-AS1 HGNC:50864 +HGNC:1078 BMPR2 bone morphogenetic protein receptor type 2 protein-coding gene gene with protein product Approved 2q33.1-q33.2 02q33.1-q33.2 "BRK-3|T-ALK|BMPR3|BMPR-II" PPH1 "primary pulmonary hypertension 1|bone morphogenetic protein receptor, type II (serine/threonine kinase)|bone morphogenetic protein receptor type II" Type 2 receptor serine/threonine kinases 346 1997-03-19 2016-04-27 2021-05-26 659 ENSG00000204217 OTTHUMG00000133617 uc002uzf.5 Z48923 NM_001204 CCDS33361 Q13873 7791754 MGI:1095407 RGD:71082 LRG_712|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_712.xml 600799 119057 objectId:1794 HGNC:1078 "ENST00000374580.10|NM_001204.7" HGNC:1078 +HGNC:23505 BMS1 BMS1 ribosome biogenesis factor protein-coding gene gene with protein product Approved 10q11.21 10q11.21 KIAA0187 BMS1L "BMS1-like, ribosome assembly protein (yeast)|BMS1 homolog, ribosome assembly protein (yeast)|BMS1, ribosome biogenesis factor" SSU processome 1484 2003-11-21 2007-03-20 2019-01-21 2019-01-21 9790 ENSG00000165733 OTTHUMG00000018020 uc001jaj.4 BC043345 NM_014753 CCDS7199 Q14692 "11779832|23785305" MGI:2446132 RGD:1308043 611448 357791 HGNC:23505 "ENST00000374518.6|NM_014753.4" HGNC:23505 +HGNC:23649 BMS1P1 BMS1 pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 "BMS1LP1|BMS1P5|BMS1LP5" "BMS1L pseudogene 1|BMS1 pseudogene 1|BMS1, ribosome biogenesis factor pseudogene 5|BMS1L pseudogene 5|BMS1 pseudogene 5|BMS1, ribosome biogenesis factor pseudogene 1" 2004-05-27 2007-03-20 2019-01-18 2020-04-20 399761 ENSG00000204177 OTTHUMG00000018098 NR_003611 PGOHUM00000258476 HGNC:23649 +HGNC:23650 BMS1P2 BMS1 pseudogene 2 pseudogene pseudogene Approved 10q11.22 10q11.22 "bA144G6.1|OTTHUMG00000018113|bA302K17.2|OTTHUMG00000018142" "BMS1LP2|BMS1P6|BMS1LP6" "BMS1L pseudogene 2|BMS1 pseudogene 2|BMS1, ribosome biogenesis factor pseudogene 6|BMS1L pseudogene 6|BMS1 pseudogene 6|BMS1, ribosome biogenesis factor pseudogene 2" 2004-05-27 2007-03-20 2019-01-18 2020-04-20 642826 ENSG00000251079 OTTHUMG00000018113 NR_024495 PGOHUM00000238461 HGNC:23650 +HGNC:23651 BMS1P3 BMS1 pseudogene 3 pseudogene pseudogene Approved 10q23.2 10q23.2 "bA96C23.1|OTTHUMG00000018662" BMS1LP3 "BMS1L pseudogene 3|BMS1 pseudogene 3|BMS1, ribosome biogenesis factor pseudogene 3" 2004-05-27 2007-03-20 2019-01-18 2019-01-18 414217 ENSG00000240089 OTTHUMG00000018662 NG_006111 PGOHUM00000290228 HGNC:23651 +HGNC:23652 BMS1P4 BMS1 pseudogene 4 pseudogene pseudogene Approved 10q22.2 10q22.2 OTTHUMG00000018478 BMS1LP4 "BMS1L pseudogene 4|BMS1 pseudogene 4|BMS1, ribosome biogenesis factor pseudogene 4" 2004-05-27 2007-03-20 2019-01-18 2020-04-20 729096 ENSG00000242338 OTTHUMG00000018478 uc001juv.3 NR_026592 PGOHUM00000289903 HGNC:23652 +HGNC:55636 BMS1P4-AGAP5 BMS1P4-AGAP5 readthrough other readthrough Approved 10q22.2 10q22.2 2021-06-24 2021-06-24 113939925 ENSG00000242288 NR_160425 +HGNC:23655 BMS1P7 BMS1 pseudogene 7 pseudogene pseudogene Approved 10q11.22 10q11.22 "bA164N7.1|OTTHUMG00000018163" BMS1LP7 "BMS1L pseudogene 7|BMS1 pseudogene 7|BMS1, ribosome biogenesis factor pseudogene 7" 2004-05-27 2007-03-20 2019-01-18 2020-04-20 100133265 ENSG00000270025 OTTHUMG00000018163 NG_011418 PGOHUM00000289854 HGNC:23655 +HGNC:49152 BMS1P8 BMS1 pseudogene 8 pseudogene pseudogene Approved 16p11.2 16p11.2 "BMS1 pseudogene 8|BMS1, ribosome biogenesis factor pseudogene 8" 2013-09-20 2019-01-18 2019-01-18 653557 ENSG00000260518 OTTHUMG00000176352 NG_011420 PGOHUM00000293548 HGNC:49152 +HGNC:49155 BMS1P9 BMS1 pseudogene 9 pseudogene pseudogene Approved 9q13 09q13 "BMS1 pseudogene 9|BMS1, ribosome biogenesis factor pseudogene 9" 2013-09-20 2019-01-18 2019-01-18 653458 ENSG00000198312 OTTHUMG00000034439 NG_011528 PGOHUM00000304257 HGNC:49155 +HGNC:49154 BMS1P10 BMS1 pseudogene 10 pseudogene pseudogene Approved 9q13 09q13 "BMS1 pseudogene 10|BMS1, ribosome biogenesis factor pseudogene 10" 2013-09-20 2019-01-18 2019-01-18 728611 ENSG00000237238 OTTHUMG00000067277 NG_011422 PGOHUM00000303866 HGNC:49154 +HGNC:49156 BMS1P11 BMS1 pseudogene 11 pseudogene pseudogene Approved 9q13 09q13 "BMS1 pseudogene 11|BMS1, ribosome biogenesis factor pseudogene 11" 2013-09-20 2019-01-18 2019-01-18 644632 ENSG00000225883 OTTHUMG00000066928 NG_011503 PGOHUM00000303885 HGNC:49156 +HGNC:49157 BMS1P12 BMS1 pseudogene 12 pseudogene pseudogene Approved 9q21.11 09q21.11 "BMS1 pseudogene 12|BMS1, ribosome biogenesis factor pseudogene 12" 2013-09-20 2019-01-18 2019-01-18 644684 ENSG00000224599 OTTHUMG00000067343 NG_030262 PGOHUM00000303893 HGNC:49157 +HGNC:49158 BMS1P13 BMS1 pseudogene 13 pseudogene pseudogene Approved 9q21.11 09q21.11 "BMS1 pseudogene 13|BMS1, ribosome biogenesis factor pseudogene 13" 2013-09-20 2019-01-18 2019-01-18 644716 ENSG00000231701 OTTHUMG00000067356 NG_005577 PGOHUM00000304291 HGNC:49158 +HGNC:49159 BMS1P14 BMS1 pseudogene 14 other unknown Approved 9p11.2 09p11.2 "BMS1 pseudogene 14|BMS1, ribosome biogenesis factor pseudogene 14" 2013-09-20 2019-01-18 2020-09-17 101929959 ENSG00000276500 OTTHUMG00000066753 NR_170872 PGOHUM00000250524 HGNC:49159 +HGNC:49160 BMS1P15 BMS1 pseudogene 15 pseudogene pseudogene Approved 15q11.1 15q11.1 "BMS1 pseudogene 15|BMS1, ribosome biogenesis factor pseudogene 15" 2013-09-20 2019-01-18 2019-01-18 642311 ENSG00000258780 OTTHUMG00000171658 NG_011423 PGOHUM00000293101 HGNC:49160 +HGNC:49161 BMS1P16 BMS1 pseudogene 16 pseudogene pseudogene Approved 15q11.2 15q11.2 "BMS1 pseudogene 16|BMS1, ribosome biogenesis factor pseudogene 16" 2013-09-20 2019-01-18 2019-01-18 727914 ENSG00000258684 OTTHUMG00000171714 NG_011424 PGOHUM00000293111 HGNC:49161 +HGNC:49162 BMS1P17 BMS1 pseudogene 17 pseudogene pseudogene Approved 14q11.2 14q11.2 "BMS1 pseudogene 17|BMS1, ribosome biogenesis factor pseudogene 17" 2013-09-20 2019-01-18 2019-01-18 101101776 ENSG00000228294 OTTHUMG00000150377 NR_073460 PGOHUM00000292552 HGNC:49162 +HGNC:19436 BMS1P18 BMS1 pseudogene 18 pseudogene pseudogene Approved 14q11.2 14q11.2 "C14orf17|LINC00516" "chromosome 14 open reading frame 17|long intergenic non-protein coding RNA 516|BMS1 pseudogene 18|BMS1, ribosome biogenesis factor pseudogene 18" 2004-06-11 2013-09-20 2019-01-18 2020-11-17 414763 BC040855 NR_073459 PGOHUM00000292266 HGNC:19436 +HGNC:49163 BMS1P19 BMS1 pseudogene 19 pseudogene pseudogene Approved 2q13 02q13 "BMS1 pseudogene 19|BMS1, ribosome biogenesis factor pseudogene 19" 2013-09-20 2019-01-18 2019-01-18 100131577 ENSG00000231099 OTTHUMG00000154976 NG_011527 PGOHUM00000298623 HGNC:49163 +HGNC:49153 BMS1P20 BMS1 pseudogene 20 pseudogene pseudogene Approved 22q11.22 22q11.22 "BMS1 pseudogene 20|BMS1, ribosome biogenesis factor pseudogene 20" 2013-09-20 2019-01-18 2021-06-23 96610 ENSG00000272779 OTTHUMG00000186398 NR_027293 PGOHUM00000297672 HGNC:49153 +HGNC:51604 BMS1P21 BMS1 pseudogene 21 pseudogene pseudogene Approved 10q22.3 10q22.3 "BMS1 pseudogene 21|BMS1, ribosome biogenesis factor pseudogene 21" 2015-03-16 2019-01-18 2019-01-18 100288974 ENSG00000283101 OTTHUMG00000191473 NR_033857 HGNC:51604 +HGNC:51603 BMS1P22 BMS1 pseudogene 22 pseudogene pseudogene Approved 22q11.1 22q11.1 "BMS1 pseudogene 22|BMS1, ribosome biogenesis factor pseudogene 22" 2015-03-16 2019-01-18 2019-01-18 106480334 ENSG00000232775 OTTHUMG00000140198 NR_133911 PGOHUM00000297421 HGNC:51603 +HGNC:55088 BMS1P23 BMS1 pseudogene 23 pseudogene pseudogene Approved 2q11.1 02q11.1 2020-06-19 2020-06-19 728034 ENSG00000286156 NR_146105 PGOHUM00000297996 +HGNC:26475 BMT2 base methyltransferase of 25S rRNA 2 homolog protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "DKFZp762M126|FLJ31818|SAMTOR" "hypothetical protein FLJ31818|S-adenosylmethionine sensor upstream of mTORC1" C7orf60 chromosome 7 open reading frame 60 Seven-beta-strand methyltransferase motif containing 1400 2008-06-19 2016-04-22 2016-04-22 2020-03-10 154743 ENSG00000164603 OTTHUMG00000155233 uc003vgo.2 NM_152556 CCDS43634 Q1RMZ1 "23558746|29123071" MGI:2141466 RGD:1588441 617855 HGNC:26475 "ENST00000297145.9|NM_152556.3" +HGNC:1079 BMX BMX non-receptor tyrosine kinase protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "ETK|PSCTK3" BTK-like on X chromosome "Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases" "682|741|1457" 1995-07-11 2020-09-17 660 ENSG00000102010 OTTHUMG00000021180 uc004cww.3 AF045459 NM_001721 CCDS14168 P51813 7970727 MGI:1101778 RGD:1565643 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BMX 300101 objectId:1942 HGNC:1079 "ENST00000348343.11|NM_203281.3" +HGNC:1081 BNC1 basonuclin 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 HsT19447 BNC basonuclin Zinc fingers C2H2-type 28 1997-09-12 2004-05-04 2004-04-30 2020-09-17 646 ENSG00000169594 OTTHUMG00000147362 uc002bjt.2 L03427 NM_001717 "CCDS10324|CCDS73771" Q01954 1332044 MGI:1097164 RGD:1309042 601930 HGNC:1081 "ENST00000345382.7|NM_001717.4" HGNC:1081 +HGNC:30988 BNC2 basonuclin 2 protein-coding gene gene with protein product Approved 9p22.3-p22.2 09p22.3-p22.2 "BSN2|FLJ20043" Zinc fingers C2H2-type 28 2004-04-29 2018-02-13 54796 ENSG00000173068 OTTHUMG00000019593 uc003zml.4 AK092247 NM_017637 CCDS6482 Q6ZN30 14702039 MGI:2443805 RGD:1310694 608669 HGNC:30988 "ENST00000380672.9|NM_017637.6" HGNC:30988 +HGNC:53727 BNC2-AS1 BNC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p22.2 09p22.2 RP11-62F24.2 Antisense RNAs 1987 2017-09-08 2021-07-01 111216284 ENSG00000234779 OTTHUMG00000019591 NR_151723 28879717 HGNC:53727 +HGNC:1082 BNIP1 BCL2 interacting protein 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "Nip1|SEC20" BCL2/adenovirus E1B 19kDa interacting protein 1 "SNAREs|BCL2 homology region 3 (BH3) only" "1124|1277" 1997-03-19 2016-06-21 2020-09-17 662 ENSG00000113734 OTTHUMG00000130521 uc003mcj.5 AF083957 NM_013979 "CCDS4386|CCDS43400|CCDS4384|CCDS4385" Q12981 "7954800|15272311" MGI:109328 RGD:620799 603291 HGNC:1082 "ENST00000351486.10|NM_001205.3" +HGNC:1083 BNIP2 BCL2 interacting protein 2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "Nip2|BNIP-2" BCL2/adenovirus E1B 19kDa interacting protein 2 "BCL2 family|BCH domain containing " "1057|1299" 1997-03-19 2016-06-21 2016-10-05 663 ENSG00000140299 OTTHUMG00000132727 uc059jvv.1 U15173 NM_004330 "CCDS10174|CCDS81889" Q12982 7954800 MGI:109327 RGD:1308944 603292 HGNC:1083 "ENST00000607373.6|NM_004330.4" +HGNC:1084 BNIP3 BCL2 interacting protein 3 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 Nip3 nineteen kD interacting protein-3 BCL2/adenovirus E1B 19kDa interacting protein 3 BCL2 homology region 3 (BH3) only 1277 1997-03-19 2016-06-21 2020-09-17 664 ENSG00000176171 OTTHUMG00000019278 uc001lkv.3 U15174 NM_004052 CCDS7663 Q12983 7954800 MGI:109326 RGD:620800 603293 HGNC:1084 "ENST00000368636.9|NM_004052.4" +HGNC:1085 BNIP3L BCL2 interacting protein 3 like protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "Nix|BNIP3a" NIP-3-like protein X BCL2/adenovirus E1B 19kDa interacting protein 3 like 1997-07-01 2016-06-21 2020-09-17 665 ENSG00000104765 OTTHUMG00000099433 uc003xex.2 AB004788 NM_004331 "CCDS83267|CCDS6050" O60238 "9523198|9973195" MGI:1332659 RGD:621354 605368 HGNC:1085 "ENST00000380629.7|NM_004331.3" +HGNC:19922 BNIP3P1 BCL2 interacting protein 3 pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 BNIP3P "BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene|BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1" 2003-01-13 2011-03-18 2016-06-21 2017-06-16 319138 ENSG00000197358 OTTHUMG00000170378 NG_002516 28618048 PGOHUM00000258788 HGNC:19922 +HGNC:39655 BNIP3P2 BCL2 interacting protein 3 pseudogene 2 pseudogene pseudogene Approved 22q11.1 22q11.1 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 2 2011-03-18 2016-06-21 2016-06-21 100421754 ENSG00000236097 OTTHUMG00000155642 NG_027406 PGOHUM00000259679 HGNC:39655 +HGNC:39656 BNIP3P3 BCL2 interacting protein 3 pseudogene 3 pseudogene pseudogene Approved 18p11.21 18p11.21 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 3 2011-03-18 2016-06-21 2017-10-25 100421736 ENSG00000265631 OTTHUMG00000178819 NG_026278 PGOHUM00000307547 HGNC:39656 +HGNC:39657 BNIP3P4 BCL2 interacting protein 3 pseudogene 4 pseudogene pseudogene Approved 9q13 09q13 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 4 2011-03-18 2016-06-21 2016-10-05 100289028 ENSG00000271225 OTTHUMG00000184631 NG_021623 PGOHUM00000307618 HGNC:39657 +HGNC:39658 BNIP3P5 BCL2 interacting protein 3 pseudogene 5 pseudogene pseudogene Approved 15q15.1 15q15.1 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 5 2011-03-18 2016-06-21 2016-06-21 100421724 ENSG00000260571 OTTHUMG00000172874 NG_025378 PGOHUM00000262250 HGNC:39658 +HGNC:39659 BNIP3P6 BCL2 interacting protein 3 pseudogene 6 pseudogene pseudogene Approved 14q11.2 14q11.2 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 6 2011-03-18 2016-06-21 2016-06-21 100129777 ENSG00000257356 OTTHUMG00000170293 NG_022850 PGOHUM00000258758 HGNC:39659 +HGNC:49101 BNIP3P7 BCL2 interacting protein 3 pseudogene 7 pseudogene pseudogene Approved 13q11 13q11 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 7 2013-09-02 2016-06-21 2016-06-21 101927265 ENSG00000270496 OTTHUMG00000184738 PGOHUM00000258718 HGNC:49101 +HGNC:49675 BNIP3P8 BCL2 interacting protein 3 pseudogene 8 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 8 2014-02-04 2016-06-21 2016-06-21 100421710 ENSG00000269431 OTTHUMG00000183270 NG_024253 PGOHUM00000234637 HGNC:49675 +HGNC:49689 BNIP3P9 BCL2 interacting protein 3 pseudogene 9 pseudogene pseudogene Approved 19p13.11 19p13.11 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 9 2014-02-12 2016-06-21 2016-06-21 106480280 ENSG00000270325 OTTHUMG00000184913 NG_044109 PGOHUM00000259382 HGNC:49689 +HGNC:49690 BNIP3P10 BCL2 interacting protein 3 pseudogene 10 pseudogene pseudogene Approved 19p13.11 19p13.11 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 10 2014-02-12 2016-06-21 2016-06-21 100421695 ENSG00000270270 OTTHUMG00000184904 NG_024159 PGOHUM00000234203 HGNC:49690 +HGNC:49724 BNIP3P11 BCL2 interacting protein 3 pseudogene 11 pseudogene pseudogene Approved 7q11.21 07q11.21 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 11 2014-02-14 2016-06-21 2017-03-10 106480286 ENSG00000271550 OTTHUMG00000184529 NG_045138 PGOHUM00000232827 HGNC:49724 +HGNC:49692 BNIP3P12 BCL2 interacting protein 3 pseudogene 12 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 12 2014-02-13 2016-06-21 2016-06-21 100421703 NG_024228 PGOHUM00000234552 HGNC:49692 +HGNC:49693 BNIP3P13 BCL2 interacting protein 3 pseudogene 13 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 13 2014-02-13 2016-06-21 2016-06-21 101060192 ENSG00000269154 OTTHUMG00000182652 PGOHUM00000259383 HGNC:49693 +HGNC:49694 BNIP3P14 BCL2 interacting protein 3 pseudogene 14 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 14 2014-02-13 2016-06-21 2016-06-21 100421696 NG_024162 PGOHUM00000234209 HGNC:49694 +HGNC:49695 BNIP3P15 BCL2 interacting protein 3 pseudogene 15 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 15 2014-02-13 2016-06-21 2016-06-21 106481692 ENSG00000270716 OTTHUMG00000184918 NG_045332 PGOHUM00000234556 HGNC:49695 +HGNC:49696 BNIP3P16 BCL2 interacting protein 3 pseudogene 16 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 16 2014-02-13 2016-06-21 2016-06-21 106480418 ENSG00000267641 OTTHUMG00000180744 NG_043184 PGOHUM00000264265 HGNC:49696 +HGNC:49697 BNIP3P17 BCL2 interacting protein 3 pseudogene 17 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 17 2014-02-13 2016-06-21 2016-06-21 100421704 ENSG00000271524 OTTHUMG00000184916 NG_024230 PGOHUM00000259385 HGNC:49697 +HGNC:49698 BNIP3P18 BCL2 interacting protein 3 pseudogene 18 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 18 2014-02-13 2016-06-21 2016-06-21 106481693 ENSG00000269055 OTTHUMG00000182654 NG_043149 PGOHUM00000234561 HGNC:49698 +HGNC:49699 BNIP3P19 BCL2 interacting protein 3 pseudogene 19 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 19 2014-02-13 2016-06-21 2016-06-21 106480281 ENSG00000271638 OTTHUMG00000184921 NG_044116 PGOHUM00000259312 HGNC:49699 +HGNC:49700 BNIP3P20 BCL2 interacting protein 3 pseudogene 20 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 20 2014-02-13 2016-06-21 2016-06-21 100421705 ENSG00000271704 OTTHUMG00000184908 NG_024231 PGOHUM00000234563 HGNC:49700 +HGNC:49701 BNIP3P21 BCL2 interacting protein 3 pseudogene 21 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 21 2014-02-14 2016-06-21 2016-06-21 100131306 NG_021744 PGOHUM00000234215 HGNC:49701 +HGNC:49702 BNIP3P22 BCL2 interacting protein 3 pseudogene 22 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 22 2014-02-14 2016-06-21 2016-06-21 100421706 ENSG00000268174 OTTHUMG00000182681 NG_024232 PGOHUM00000259388 HGNC:49702 +HGNC:49703 BNIP3P23 BCL2 interacting protein 3 pseudogene 23 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 23 2014-02-14 2016-06-21 2016-06-21 100421697 ENSG00000268335 OTTHUMG00000182683 NG_024163 PGOHUM00000259313 HGNC:49703 +HGNC:49704 BNIP3P24 BCL2 interacting protein 3 pseudogene 24 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 24 2014-02-14 2016-06-21 2016-06-21 100421698 ENSG00000269040 OTTHUMG00000182745 NG_024164 PGOHUM00000259315 HGNC:49704 +HGNC:49705 BNIP3P25 BCL2 interacting protein 3 pseudogene 25 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 25 2014-02-14 2016-06-21 2016-06-21 100421707 ENSG00000268322 OTTHUMG00000182842 NG_024243 PGOHUM00000259392 HGNC:49705 +HGNC:49706 BNIP3P26 BCL2 interacting protein 3 pseudogene 26 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 26 2014-02-14 2016-06-21 2016-06-21 100421699 ENSG00000268705 OTTHUMG00000182849 NG_024167 PGOHUM00000234235 HGNC:49706 +HGNC:49707 BNIP3P27 BCL2 interacting protein 3 pseudogene 27 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 27 2014-02-14 2016-06-21 2016-06-21 100421708 ENSG00000268438 OTTHUMG00000182899 NG_024245 PGOHUM00000234610 HGNC:49707 +HGNC:49708 BNIP3P28 BCL2 interacting protein 3 pseudogene 28 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 28 2014-02-14 2016-06-21 2016-06-21 106481966 ENSG00000271095 OTTHUMG00000184935 NG_045037 PGOHUM00000234612 HGNC:49708 +HGNC:49709 BNIP3P29 BCL2 interacting protein 3 pseudogene 29 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 29 2014-02-14 2016-06-21 2016-06-21 100421700 ENSG00000269742 OTTHUMG00000182928 NG_024169 PGOHUM00000234245 HGNC:49709 +HGNC:49710 BNIP3P30 BCL2 interacting protein 3 pseudogene 30 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 30 2014-02-14 2016-06-21 2016-06-21 106481694 ENSG00000268079 OTTHUMG00000182935 NG_043156 PGOHUM00000234618 HGNC:49710 +HGNC:49711 BNIP3P31 BCL2 interacting protein 3 pseudogene 31 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 31 2014-02-14 2016-06-21 2016-06-21 106480282 ENSG00000270191 OTTHUMG00000184950 NG_044123 PGOHUM00000259316 HGNC:49711 +HGNC:49712 BNIP3P32 BCL2 interacting protein 3 pseudogene 32 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 32 2014-02-14 2016-06-21 2016-06-21 106480283 ENSG00000268830 OTTHUMG00000182977 NG_044130 PGOHUM00000234252 HGNC:49712 +HGNC:49713 BNIP3P33 BCL2 interacting protein 3 pseudogene 33 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 33 2014-02-14 2016-06-21 2016-06-21 106481695 ENSG00000268717 OTTHUMG00000182978 NG_043163 PGOHUM00000234253 HGNC:49713 +HGNC:49714 BNIP3P34 BCL2 interacting protein 3 pseudogene 34 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 34 2014-02-14 2016-06-21 2016-06-21 100128849 ENSG00000269509 OTTHUMG00000183119 NG_021761 PGOHUM00000234628 HGNC:49714 +HGNC:49715 BNIP3P35 BCL2 interacting protein 3 pseudogene 35 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 35 2014-02-14 2016-06-21 2016-06-21 106480284 ENSG00000271655 OTTHUMG00000184955 NG_044138 PGOHUM00000259317 HGNC:49715 +HGNC:49716 BNIP3P36 BCL2 interacting protein 3 pseudogene 36 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 36 2014-02-14 2016-06-21 2016-06-21 106481696 ENSG00000271661 OTTHUMG00000184956 NG_043171 PGOHUM00000234632 HGNC:49716 +HGNC:49717 BNIP3P37 BCL2 interacting protein 3 pseudogene 37 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 37 2014-02-14 2016-06-21 2016-07-25 106480285 ENSG00000270479 OTTHUMG00000184957 NG_044145 PGOHUM00000294957 HGNC:49717 +HGNC:49718 BNIP3P38 BCL2 interacting protein 3 pseudogene 38 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 38 2014-02-14 2016-06-21 2016-06-21 100421709 ENSG00000268469 OTTHUMG00000183232 NG_024252 PGOHUM00000234635 HGNC:49718 +HGNC:49719 BNIP3P39 BCL2 interacting protein 3 pseudogene 39 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 39 2014-02-14 2016-06-21 2016-06-21 100421701 ENSG00000269662 OTTHUMG00000183387 NG_024172 PGOHUM00000259321 HGNC:49719 +HGNC:49720 BNIP3P40 BCL2 interacting protein 3 pseudogene 40 pseudogene pseudogene Approved 19p12 19p12 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 40 2014-02-14 2016-06-21 2016-06-21 100421702 ENSG00000268058 OTTHUMG00000183395 NG_024173 PGOHUM00000234271 HGNC:49720 +HGNC:49721 BNIP3P41 BCL2 interacting protein 3 pseudogene 41 pseudogene pseudogene Approved 4p16.3 04p16.3 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 41 2014-02-14 2016-06-21 2016-10-25 101059988 ENSG00000248302 OTTHUMG00000159940 PGOHUM00000307595 HGNC:49721 +HGNC:49722 BNIP3P42 BCL2 interacting protein 3 pseudogene 42 pseudogene pseudogene Approved 7q11.21 07q11.21 BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 42 2014-02-14 2016-06-21 2016-06-21 106481697 ENSG00000223974 OTTHUMG00000156543 NG_045027 PGOHUM00000260350 HGNC:49722 +HGNC:33769 BNIP5 BCL2 interacting protein 5 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 DKFZp779B1540 C6orf222 chromosome 6 open reading frame 222 2007-12-18 2019-05-09 2019-05-09 2019-05-09 389384 ENSG00000189325 OTTHUMG00000014591 uc003oly.4 NM_001010903 CCDS34439 P0C671 24967846 MGI:1925441 RGD:1591066 HGNC:33769 "ENST00000437635.3|NM_001010903.5" +HGNC:16976 BNIPL BCL2 interacting protein like protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "BNIPl-1|BNIPL-2|PP753|BNIP-S|BNIP-Salpha|BNIP-Sbeta" BCL2/adenovirus E1B 19kD interacting protein like BCH domain containing 1299 2002-04-26 2016-06-21 2016-10-05 149428 ENSG00000163141 OTTHUMG00000035157 uc001ewl.3 AF193056 NM_138279 "CCDS53362|CCDS978" Q7Z465 "12681488|11741952" MGI:2384749 RGD:1309478 611275 HGNC:16976 "ENST00000368931.8|NM_138278.4" +HGNC:17173 BOC BOC cell adhesion associated, oncogene regulated protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "CDON2|Boi" "brother of CDO|brother of CDON|cell adhesion associated, oncogene regulated 2" Boc homolog (mouse) "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2006-02-02 2012-12-07 2021-04-27 91653 ENSG00000144857 OTTHUMG00000159305 uc003dzx.4 AY027658 NM_033254 "CCDS77788|CCDS77789|CCDS2971" Q9BWV1 11782431 MGI:2151153 RGD:1304550 608708 HGNC:17173 "ENST00000682979.1|NM_001378074.1" +HGNC:25114 BOD1 biorientation of chromosomes in cell division 1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 biorientation defective 1 FAM44B family with sequence similarity 44, member B 2004-07-29 2009-03-04 2009-03-04 2015-08-27 91272 ENSG00000145919 OTTHUMG00000130540 uc003mcq.3 AY303777 NM_138369 "CCDS4389|CCDS54951" Q96IK1 17938248 MGI:1916806 RGD:1305622 616745 HGNC:25114 "ENST00000311086.9|NM_138369.3" HGNC:25114 +HGNC:31792 BOD1L1 biorientation of chromosomes in cell division 1 like 1 protein-coding gene gene with protein product Approved 4p15.33 04p15.33 "FLJ33215|KIAA1327" "FAM44A|BOD1L" "family with sequence similarity 44, member A|biorientation of chromosomes in cell division 1-like" 2004-07-29 2012-04-10 2016-01-13 2016-10-05 259282 ENSG00000038219 OTTHUMG00000090659 uc003gmz.2 AF528529 NM_148894 CCDS3411 Q8NFC6 MGI:2444804 RGD:621413 616746 HGNC:31792 "ENST00000040738.10|NM_148894.3" +HGNC:28505 BOD1L2 biorientation of chromosomes in cell division 1 like 2 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 MGC33608 "FAM44C|BOD1P" "family with sequence similarity 44, member C|biorientation of chromosomes in cell division 1 pseudogene" 2005-01-05 2012-04-10 2016-01-13 2016-01-13 284257 ENSG00000228075 OTTHUMG00000180124 uc002lgm.4 AK127964 NM_001257964 CCDS59322 Q8IYS8 17938248 MGI:1916806 HGNC:28505 "ENST00000585477.2|NM_001257964.2" +HGNC:51435 BOD1P1 biorientation of chromosomes in cell division 1 pseudogene 1 pseudogene pseudogene Approved 18p11.31 18p11.31 2014-11-26 2014-11-26 100129468 ENSG00000263460 OTTHUMG00000178413 NG_011933 PGOHUM00000294706 HGNC:51435 +HGNC:51436 BOD1P2 biorientation of chromosomes in cell division 1 pseudogene 2 pseudogene pseudogene Approved 18p11.31 18p11.31 2014-11-26 2014-11-26 100129355 ENSG00000215368 OTTHUMG00000178685 NG_011935 PGOHUM00000294574 HGNC:51436 +HGNC:1087 BOK BCL2 family apoptosis regulator BOK protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "BCL2L9|BOKL|MGC4631" BCL2 related ovarian killer BCL2 family 1057 1998-01-20 2018-08-15 2020-09-17 666 ENSG00000176720 OTTHUMG00000133411 uc002wbq.4 AF174487 NM_032515 CCDS2550 Q9UMX3 "9356461|11034351|15102863" MGI:1858494 RGD:70984 605404 HGNC:1087 "ENST00000318407.5|NM_032515.5" +HGNC:35125 BOK-AS1 BOK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 "NCRNA00151|NAToB" non-protein coding RNA 151 BOKAS "BOK antisense RNA (non-protein coding)|BOK antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-07-29 2011-09-16 2012-08-15 2014-01-23 100379249 ENSG00000234235 OTTHUMG00000151556 uc021vzh.4 NR_033346 19287972 BOK-AS1 HGNC:35125 +HGNC:24263 BOLA1 bolA family member 1 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 CGI-143 "bolA-like 1 (E. coli)|bolA homolog 1 (E. coli)" 2005-05-09 2013-09-02 2016-10-05 51027 ENSG00000178096 OTTHUMG00000012087 uc057klx.1 AF151901 NM_016074 CCDS939 Q9Y3E2 14718656 MGI:1916418 RGD:1310586 613181 HGNC:24263 "ENST00000369152.6|NM_016074.5" +HGNC:29488 BOLA2 bolA family member 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "My016|BOLA2A" "bolA-like 2 (E. coli)|bolA homolog 2 (E. coli)" 2005-05-09 2013-09-02 2017-06-01 552900 ENSG00000183336 OTTHUMG00000176757 uc002dss.3 AF060511 NM_001031827 CCDS32426 Q9H3K6 14718656 MGI:1913412 RGD:1565363 613182 HGNC:29488 "ENST00000330978.4|NM_001031827.3" +HGNC:53563 BOLA2-SMG1P6 BOLA2-SMG1P6 readthrough other readthrough Approved 16p11.2 16p11.2 2017-06-01 2017-06-01 107282092 ENSG00000261740 OTTHUMG00000176715 NM_001320622 HGNC:53563 +HGNC:32479 BOLA2B bolA family member 2B protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "bolA-like 2B (E. coli)|bolA homolog 2B (E. coli)" 2006-01-30 2013-09-02 2015-08-27 654483 ENSG00000169627 OTTHUMG00000176858 uc002dxb.3 NM_001039182 CCDS32430 Q9H3K6 14718656 MGI:1913412 HGNC:32479 "ENST00000651894.2|NM_001039182.4" +HGNC:51437 BOLA2P1 bolA family member 2 pseudogene 1 pseudogene pseudogene Approved 18p11.32 18p11.32 2014-11-26 2015-03-04 100652796 ENSG00000266575 OTTHUMG00000178360 NG_032707 PGOHUM00000294700 HGNC:51437 +HGNC:51438 BOLA2P2 bolA family member 2 pseudogene 2 pseudogene pseudogene Approved 3p21.31 03p21.31 2014-11-26 2014-11-26 106480322 ENSG00000271161 OTTHUMG00000184335 NG_044442 PGOHUM00000299428 HGNC:51438 +HGNC:51439 BOLA2P3 bolA family member 2 pseudogene 3 pseudogene pseudogene Approved 6p22.3 06p22.3 2014-11-26 2014-11-26 106480323 ENSG00000220771 OTTHUMG00000014343 NG_044450 PGOHUM00000301673 HGNC:51439 +HGNC:24415 BOLA3 bolA family member 3 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "bolA-like 3 (E. coli)|bolA homolog 3 (E. coli)" Mitochondrial iron-sulfur assembly components 1853 2005-05-09 2013-09-02 2021-05-26 388962 ENSG00000163170 OTTHUMG00000152834 uc002skc.2 BC017744 NM_212552 "CCDS33225|CCDS33224" Q53S33 14718656 MGI:1925903 RGD:1305975 613183 289583 HGNC:24415 "ENST00000327428.10|NM_212552.3" HGNC:24415 +HGNC:42922 BOLA3-DT BOLA3 divergent transcript non-coding RNA RNA, long non-coding Approved 2p13.1 02p13.1 BOLA3-AS1 "BOLA3 antisense RNA 1 (non-protein coding)|BOLA3 antisense RNA 1|BOLA3 antisense RNA 1 (head to head)" Divergent transcripts 1990 2011-09-05 2021-08-13 2018-03-21 2021-08-13 100507171 ENSG00000225439 OTTHUMG00000152835 uc002ske.4 "BC030102|AK123453" NR_045634 BOLA3-AS1 HGNC:42922 +HGNC:51440 BOLA3P1 bolA family member 3 pseudogene 1 pseudogene pseudogene Approved 11q22.2 11q22.2 2014-11-26 2014-11-26 100288111 ENSG00000255469 OTTHUMG00000165849 NG_030177 PGOHUM00000291121 HGNC:51440 +HGNC:51441 BOLA3P2 bolA family member 3 pseudogene 2 pseudogene pseudogene Approved 19p13.2 19p13.2 2014-11-26 2014-11-26 100287463 ENSG00000267332 OTTHUMG00000179928 NG_046608 PGOHUM00000295183 HGNC:51441 +HGNC:51442 BOLA3P3 bolA family member 3 pseudogene 3 pseudogene pseudogene Approved 5q23.2 05q23.2 2014-11-26 2014-11-26 644754 ENSG00000213630 OTTHUMG00000163033 NG_030074 PGOHUM00000300744 HGNC:51442 +HGNC:51443 BOLA3P4 bolA family member 3 pseudogene 4 pseudogene pseudogene Approved 9p21.1 09p21.1 2014-11-26 2014-11-26 106480324 ENSG00000223807 OTTHUMG00000019755 NG_045852 PGOHUM00000304149 HGNC:51443 +HGNC:14273 BOLL boule homolog, RNA binding protein protein-coding gene gene with protein product Approved 2q33.1 02q33.1 BOULE "bol (Drosophila boule homolog)-like|bol, boule-like (Drosophila)|boule-like RNA binding protein" "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 2001-02-14 2015-11-12 2016-10-05 66037 ENSG00000152430 OTTHUMG00000132747 uc002uut.4 NM_033030 "CCDS63081|CCDS2324|CCDS2325" Q8N9W6 "11390979|16001084" MGI:1922638 RGD:1559527 606165 HGNC:14273 "ENST00000392296.9|NM_033030.6" +HGNC:15519 BOP1 BOP1 ribosomal biogenesis factor protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA0124 block of proliferation 1 "WD repeat domain containing|MicroRNA protein coding host genes|PeBoW complex" "362|1691|1732" 2001-08-28 2018-11-02 2018-11-02 23246 ENSG00000261236 OTTHUMG00000174603 uc033ccj.2 AK024840 NM_015201 CCDS6418 Q14137 8590280 MGI:1334460 RGD:1310589 610596 HGNC:15519 "ENST00000569669.6|NM_015201.5" +HGNC:24724 BORA BORA aurora kinase A activator protein-coding gene gene with protein product Approved 13q21.33 13q21.33 FLJ22624 C13orf34 "chromosome 13 open reading frame 34|bora, aurora kinase A activator" 2006-08-15 2011-08-09 2019-01-18 2019-01-18 79866 ENSG00000136122 OTTHUMG00000017068 uc001viv.2 BC025367 NM_024808 CCDS66560 Q6PGQ7 "16890155|18378770|18566290|19487276" MGI:1924994 RGD:1309522 610510 HGNC:24724 "ENST00000390667.11|NM_024808.5" +HGNC:17950 BORCS5 BLOC-1 related complex subunit 5 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 LOH1CR12 myrlysin LOH12CR1 loss of heterozygosity, 12, chromosomal region 1 BLOC-1 related complex subunits 1048 2002-01-08 2015-08-07 2015-08-07 2016-10-05 118426 ENSG00000165714 OTTHUMG00000168542 AY037865 NM_001300742 "CCDS81669|CCDS8649|CCDS73448" Q969J3 "11896457|15284860|25898167" MGI:1915024 RGD:1307624 616598 HGNC:17950 "ENST00000314565.9|NM_058169.6" HGNC:17950 +HGNC:25939 BORCS6 BLOC-1 related complex subunit 6 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ20014 lyspersin C17orf59 chromosome 17 open reading frame 59 BLOC-1 related complex subunits 1048 2005-12-16 2015-08-07 2015-08-07 2015-08-07 54785 ENSG00000196544 OTTHUMG00000153930 BC018880 NM_017622 CCDS11133 Q96GS4 25898167 MGI:1919173 RGD:1563885 616599 HGNC:25939 "ENST00000389017.6|NM_017622.3" +HGNC:23516 BORCS7 BLOC-1 related complex subunit 7 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 FLJ40752 diaskedin C10orf32 chromosome 10 open reading frame 32 BLOC-1 related complex subunits 1048 2003-11-21 2015-08-07 2015-08-07 2016-10-05 119032 ENSG00000166275 OTTHUMG00000018975 AK098071 NM_144591 CCDS7542 Q96B45 25898167 MGI:1913689 RGD:1311783 616600 HGNC:23516 "ENST00000339834.10|NM_001136200.2" +HGNC:49183 BORCS7-ASMT BORCS7-ASMT readthrough (NMD candidate) other readthrough Approved 10q24.32 10q24.32 C10orf32-ASMT C10orf32-ASMT readthrough (NMD candidate) 2013-09-25 2015-08-07 2015-08-07 2015-08-07 100528007 ENSG00000270316 OTTHUMG00000184175 NR_037644 HGNC:49183 +HGNC:37247 BORCS8 BLOC-1 related complex subunit 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MEF2BNB MEF2B neighbor BLOC-1 related complex subunits 1048 2011-04-19 2015-08-07 2015-08-07 2015-08-27 729991 ENSG00000254901 OTTHUMG00000166546 NM_001145783 "CCDS46025|CCDS54235" Q96FH0 25898167 MGI:1919618 RGD:1582941 616601 HGNC:37247 "ENST00000462790.8|NM_001145784.2" +HGNC:39979 BORCS8-MEF2B BORCS8-MEF2B readthrough other readthrough Approved 19p13.11 19p13.11 MEF2BNB-MEF2B MEF2BNB-MEF2B readthrough 2011-04-19 2015-08-07 2015-08-07 2015-08-07 4207 ENSG00000064489 OTTHUMG00000154572 NM_005919.3 CCDS12394 HGNC:39979 +HGNC:49883 BORCS8P1 BORCS8 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 MEF2BNBP1 MEF2B neighbor pseudogene 1 2014-03-18 2021-03-24 2021-03-24 2021-03-24 100128109 ENSG00000256844 OTTHUMG00000168903 NG_011617 PGOHUM00000250989 HGNC:49883 +HGNC:13228 BPESC1 blepharophimosis, epicanthus inversus and ptosis candidate 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 NCRNA00187 non-protein coding RNA 187 "blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding)|blepharophimosis, epicanthus inversus and ptosis, candidate 1" Long non-coding RNAs with non-systematic symbols 1992 2000-11-28 2018-08-16 2018-08-16 60467 ENSG00000232416 OTTHUMG00000141266 uc003eta.4 AF196865 NR_026783 Q9GZL8 10995571 618995 BPESC1 HGNC:13228 +HGNC:1093 BPGM bisphosphoglycerate mutase protein-coding gene gene with protein product Approved 7q33 07q33 2,3-bisphosphoglycerate mutase "Phosphoglycerate mutases|Bisphosphoglycerate phosphatases" "1078|1082" 2001-06-22 2015-11-27 2021-05-26 669 ENSG00000172331 OTTHUMG00000155380 uc003vrw.4 BC017050 NM_001724 CCDS5833 P07738 MGI:1098242 RGD:735018 613896 119064 "5.4.2.4|3.1.3.13" HGNC:1093 "ENST00000344924.8|NM_001724.5" HGNC:1093 +HGNC:1094 BPHL biphenyl hydrolase like protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "Bph-rp|VACVase" "breast epithelial mucin-associated antigen|valacyclovir hydrolase" MCNAA biphenyl hydrolase-like (serine hydrolase) 1997-10-17 2016-07-19 2020-09-17 670 ENSG00000137274 OTTHUMG00000014140 uc003mva.4 X81372 NM_001302777 "CCDS78105|CCDS4483" Q86WA6 "7759552|9721218|15832508" MGI:1915271 RGD:1307572 603156 S33.982 HGNC:1094 "ENST00000380379.10|NM_004332.4" +HGNC:1095 BPI bactericidal permeability increasing protein protein-coding gene gene with protein product Approved 20q11.23 20q11.23 BPIFD1 BPI fold containing family D, member 1 bactericidal/permeability-increasing protein BPI fold containing 456 1992-03-13 2018-02-09 2018-02-09 671 ENSG00000101425 OTTHUMG00000032441 uc002xib.3 J04739 NM_001725 CCDS13303 P17213 8432532 MGI:3045315 RGD:1303179 109195 HGNC:1095 "ENST00000642449.2|NM_001725.3" +HGNC:15749 BPIFA1 BPI fold containing family A member 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "LUNX|bA49G10.5|SPLUNC1" PLUNC "palate, lung and nasal epithelium carcinoma associated|palate, lung and nasal epithelium associated" BPI fold containing 456 2001-09-17 2011-07-29 2015-12-07 2015-12-07 51297 ENSG00000198183 OTTHUMG00000032243 uc002wyu.5 AB024937 NM_130852 CCDS13217 Q9NP55 "11018263|11251963|21787333" MGI:1338036 RGD:619818 607412 HGNC:15749 "ENST00000354297.9|NM_130852.3" +HGNC:16203 BPIFA2 BPI fold containing family A member 2 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "bA49G10.1|SPLUNC2|PSP" C20orf70 chromosome 20 open reading frame 70 BPI fold containing 456 2001-07-17 2011-07-29 2015-12-07 2015-12-07 140683 ENSG00000131050 OTTHUMG00000032244 uc061wfu.1 AF432917 NM_080574 CCDS13214 Q96DR5 11971875 MGI:97787 RGD:3431 HGNC:16203 "ENST00000354932.6|NM_080574.4" +HGNC:16204 BPIFA3 BPI fold containing family A member 3 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "bA49G10.4|SPLUNC3" C20orf71 chromosome 20 open reading frame 71 BPI fold containing 456 2001-07-17 2011-07-29 2015-12-07 2015-12-07 128861 ENSG00000131059 OTTHUMG00000032245 uc002wyr.5 NM_178466 "CCDS42865|CCDS13216" Q9BQP9 "11971875|21787333" MGI:1920638 RGD:1596102 HGNC:16204 "ENST00000375454.8|NM_178466.5" +HGNC:20469 BPIFA4P BPI fold containing family A member 4, pseudogene pseudogene pseudogene Approved 20q11.21 20q11.21 BASE "breast cancer and salivary gland expression gene|PLUNC family pseudogene" BPI fold containing 456 2011-07-29 2015-12-07 2020-08-14 317716 ENSG00000183566 OTTHUMG00000032251 AY180924 NR_026760 Q86YQ2 "12538848|21787333" RGD:1559748 607627 HGNC:20469 +HGNC:16108 BPIFB1 BPI fold containing family B member 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ1187J4.1|MGC14597|bA49G10.6|LPLUNC1|VEMSGP" von Ebner minor salivary gland protein C20orf114 chromosome 20 open reading frame 114 BPI fold containing 456 2001-07-17 2011-07-29 2015-12-07 2015-12-07 92747 ENSG00000125999 OTTHUMG00000032252 uc002wyw.1 BC008429 NM_033197 CCDS13218 Q8TDL5 "11971875|21787333" MGI:2137431 RGD:1563047 HGNC:16108 "ENST00000253354.2|NM_033197.3" +HGNC:16177 BPIFB2 BPI fold containing family B member 2 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ726C3.2|LPLUNC2" "C20orf184|BPIL1" bactericidal/permeability-increasing protein-like 1 BPI fold containing 456 2001-11-14 2011-07-29 2015-12-07 2015-12-07 80341 ENSG00000078898 OTTHUMG00000032232 uc002wyj.5 AF465765 NM_025227 CCDS13210 Q8N4F0 "12185532|21787333" MGI:1913807 RGD:1310866 614108 HGNC:16177 "ENST00000170150.4|NM_025227.3" +HGNC:16178 BPIFB3 BPI fold containing family B member 3 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ726C3.4|LPLUNC3|RYA3" C20orf185 chromosome 20 open reading frame 185 BPI fold containing 456 2001-07-17 2011-07-29 2015-12-07 2015-12-07 359710 ENSG00000186190 OTTHUMG00000032234 uc002wym.1 AF549189 NM_182658 CCDS13212 P59826 "11971875|21787333" MGI:2675077 RGD:1565613 615717 HGNC:16178 +HGNC:16179 BPIFB4 BPI fold containing family B member 4 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ726C3.5|LPLUNC4" C20orf186 chromosome 20 open reading frame 186 BPI fold containing 456 2001-07-17 2011-07-29 2015-12-07 2020-11-17 149954 ENSG00000186191 OTTHUMG00000032235 uc010zue.3 AF549190 NM_182519 CCDS13213 P59827 "11971875|21787333" MGI:2685852 RGD:1561174 615718 HGNC:16179 "ENST00000375483.4|NM_182519.3" +HGNC:42177 BPIFB5P BPI fold containing family B member 5, pseudogene pseudogene pseudogene Approved 20q11.21 20q11.21 BPI fold containing 456 2011-08-01 2015-12-07 2015-12-07 100505383 ENSG00000233146 OTTHUMG00000032258 NG_027787 21787333 MGI:2385160 HGNC:42177 +HGNC:16504 BPIFB6 BPI fold containing family B member 6 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 LPLUNC6 BPIL3 bactericidal/permeability-increasing protein-like 3 BPI fold containing 456 2001-11-14 2011-07-29 2015-12-07 2021-05-26 128859 ENSG00000167104 OTTHUMG00000032238 uc010zuc.2 AF465767 NM_174897 CCDS13211 Q8NFQ5 "12185532|21787333" MGI:2684965 RGD:1311602 614110 HGNC:16504 "ENST00000349552.1|NM_174897.2" +HGNC:16109 BPIFB9P BPI fold containing family B member 9, pseudogene pseudogene pseudogene Approved 20q11.21 20q11.21 dJ1187J4.2 C20orf115 chromosome 20 open reading frame 115 BPI fold containing 456 2001-07-17 2011-08-01 2015-12-07 2015-12-07 402016 ENSG00000125997 OTTHUMG00000032253 NG_029803 MGI:3767993 HGNC:16109 +HGNC:16503 BPIFC BPI fold containing family C protein-coding gene gene with protein product Approved 22q12.3 22q12.3 dJ149A16.7 BPIL2 bactericidal/permeability-increasing protein-like 2 BPI fold containing 456 2001-11-14 2011-08-01 2011-08-01 2014-11-19 254240 ENSG00000184459 OTTHUMG00000058273 uc062dnp.1 AF465766 NM_174932 CCDS13906 Q8NFQ6 MGI:3026884 RGD:1311686 614109 HGNC:16503 "ENST00000300399.9|NM_174932.3" HGNC:16503 +HGNC:1096 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 protein-coding gene gene with protein product Approved 1q41 01q41 Phosphoinositide phosphatases 1079 1999-07-07 2020-09-17 10380 ENSG00000162813 OTTHUMG00000037435 uc057png.1 AF125042 NM_006085 "CCDS65787|CCDS65788|CCDS41469" O95861 10224133 MGI:1338800 RGD:621833 604053 3.1.3.7 HGNC:1096 "ENST00000322067.12|NM_006085.6" +HGNC:26019 BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "FLJ20421|IMPA3|gPAPP" "golgi-resident nucleotide phosphatase|Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase" IMPAD1 inositol monophosphatase domain containing 1 2005-08-02 2020-01-07 2020-01-07 2020-01-21 54928 ENSG00000104331 OTTHUMG00000164415 uc003xte.5 NM_017813 CCDS6169 Q9NX62 "21549340|22289690|18695242|24799377" MGI:1915720 RGD:1306455 614010 280591 3.1.3.7 HGNC:26019 "ENST00000262644.9|NM_017813.5" HGNC:26019 +HGNC:54752 BPNT2P1 BPNT2 pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 BPNT2P 3'(2'), 5'-bisphosphate nucleotidase 2, pseudogene 2020-01-22 2020-12-09 2020-12-09 2020-12-09 100421537 ENSG00000270936 OTTHUMG00000184470 NG_027037 PGOHUM00000296031 +HGNC:3581 BPTF bromodomain PHD finger transcription factor protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "FAC1|NURF301" FALZ fetal Alzheimer antigen "PHD finger proteins|Bromodomain containing|NURF complex" "88|1232|1363" 1996-10-30 2006-12-01 2006-12-01 2021-05-26 2186 ENSG00000171634 OTTHUMG00000132254 uc002jgf.4 AY282495 "NM_182641|NM_004459" CCDS11673 Q12830 "8975731|10662542|16728976" MGI:2444008 RGD:1307039 601819 objectId:2723 HGNC:3581 "ENST00000306378.11|NM_182641.4" HGNC:3581 +HGNC:52869 BPTFP1 bromodomain PHD finger transcription factor pseudogene 1 pseudogene pseudogene Approved 17q24.1 17q24.1 2016-12-14 2016-12-14 109286551 ENSG00000263647 OTTHUMG00000179294 NG_052568 HGNC:52869 +HGNC:13508 BPY2 basic charge Y-linked 2 protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 "BPY2A|VCY2A" VCY2 2000-09-25 2004-05-28 2018-04-26 2018-04-26 9083 ENSG00000183753 OTTHUMG00000058899 uc284rci.1 AF000980 NM_004678 CCDS14800 O14599 400013 HGNC:13508 "ENST00000331070.8|NM_004678.3" +HGNC:25449 BPY2B basic charge Y-linked 2B protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 VCY2B 2004-08-25 2018-04-26 2018-04-26 442867 ENSG00000183795 OTTHUMG00000045101 uc004fwi.4 NM_001002760 CCDS44029 O14599 HGNC:25449 "ENST00000382392.5|NM_001002760.1" +HGNC:18225 BPY2C basic charge Y-linked 2C protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 VCY2C 2004-08-25 2018-04-26 2018-04-26 442868 ENSG00000185894 OTTHUMG00000045199 uc004fws.4 NM_001002761 CCDS44030 O14599 HGNC:18225 "ENST00000382287.5|NM_001002761.1" +HGNC:38794 BPY2DP basic charge Y-linked 2D, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-08-04 2018-04-26 2018-04-26 100885797 ENSG00000229745 OTTHUMG00000041060 NG_032694 HGNC:38794 +HGNC:1097 BRAF B-Raf proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 7q34 07q34 "BRAF1|BRAF-1" v-raf murine sarcoma viral oncogene homolog B "Mitogen-activated protein kinase kinase kinases|RAF family" "654|1157" 1991-07-16 2014-06-26 2022-02-10 673 ENSG00000157764 OTTHUMG00000157457 uc003vwc.5 M95712 NM_004333 "CCDS5863|CCDS87555" P15056 "2284096|1565476" MGI:88190 RGD:619908 LRG_299|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_299.xml BRAF 164757 119066 objectId:1943 HGNC:1097 "ENST00000644969.2|NM_001374258.1" HGNC:1097 +HGNC:18615 BRAFP1 BRAF pseudogene 1 pseudogene pseudogene Approved Xq13.3 Xq13.3 BRAF2 BRAFPS2 "v-raf murine sarcoma viral oncogene homolog B pseudogene 2|v-raf murine sarcoma viral oncogene homolog B pseudogene 1" 2003-07-21 2011-04-28 2014-06-26 2016-11-30 286494 ENSG00000224775 OTTHUMG00000021868 NG_003108 "1630826|19107232|25843629" 300956 PGOHUM00000305160 HGNC:18615 +HGNC:1099 BRAP BRCA1 associated protein protein-coding gene gene with protein product Approved 12q24.12 12q24.12 "BRAP2|RNF52|IMP" "impedes mitogenic signal propagation|galectin-2-binding protein" Ring finger proteins 58 1998-09-17 2020-09-17 8315 ENSG00000089234 OTTHUMG00000169600 uc001tsn.4 AF035620 NM_006768 CCDS9154 Q7Z569 "9497340|19198608" MGI:1919649 RGD:1586551 604986 HGNC:1099 "ENST00000419234.9|NM_006768.5" +HGNC:21701 BRAT1 BRCA1 associated ATM activator 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 MGC22916 BRCA1-associated protein required for ATM activation protein 1 "C7orf27|BAAT1" "chromosome 7 open reading frame 27|BRCA1-associated ATM activator 1" 2003-07-14 2011-03-22 2016-02-03 2021-05-26 221927 ENSG00000106009 OTTHUMG00000119091 uc003smi.4 BC015632 NM_152743 CCDS5334 Q6PJG6 16452482 MGI:1891679 RGD:1565146 614506 444663 HGNC:21701 "ENST00000340611.9|NM_152743.4" HGNC:21701 +HGNC:1100 BRCA1 BRCA1 DNA repair associated protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RNF53|BRCC1|PPP1R53|FANCS" "BRCA1/BRCA2-containing complex, subunit 1|protein phosphatase 1, regulatory subunit 53|Fanconi anemia, complementation group S" "breast cancer 1, early onset|breast cancer 1" "Ring finger proteins|FA complementation groups|Protein phosphatase 1 regulatory subunits|BRCA1 A complex|BRCA1 B complex|BRCA1 C complex" "58|548|694|1328|1335|1336" 1991-02-20 2019-01-22 2021-05-26 672 ENSG00000012048 OTTHUMG00000157426 uc002ict.4 U14680 NM_007294 "CCDS11454|CCDS11459|CCDS11453|CCDS11456|CCDS11455" P38398 "1676470|25472942" MGI:104537 RGD:2218 "Breast Cancer|http://research.nhgri.nih.gov/bic/|Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|BRCA1 database at LOVD-China|http://genomed.org/LOVD/BC/home.php?select_db=BRCA1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BRCA1|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/BRCA1|LRG_292|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_292.xml" BRCA1 113705 119068 HGNC:1100 "ENST00000357654.9|NM_007294.4" HGNC:1100 +HGNC:28470 BRCA1P1 BRCA1 pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 "LBRCA1|PsiBRCA1|pseudo-BRCA1" like-BRCA1 2005-05-26 2020-04-07 394269 ENSG00000267595 NG_003183 "11880951|8954804|10205276" HGNC:28470 +HGNC:1101 BRCA2 BRCA2 DNA repair associated protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "FAD|FAD1|BRCC2|XRCC11" BRCA1/BRCA2-containing complex, subunit 2 "FANCD1|FACD|FANCD" "Fanconi anemia, complementation group D1|breast cancer 2, early onset|breast cancer 2" FA complementation groups 548 1994-10-17 2019-01-22 2021-05-26 675 ENSG00000139618 OTTHUMG00000017411 uc001uub.2 U43746 NM_000059 CCDS9344 P51587 "8091231|7581463|15057823" MGI:109337 RGD:2219 "Breast Cancer|http://research.nhgri.nih.gov/bic/|Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|BRCA1 database at LOVD-China|http://genomed.org/LOVD/BC/home.php?select_db=BRCA2|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BRCA2|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/BRCA2|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCD1|LRG_293|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_293.xml" BRCA2 600185 119072 HGNC:1101 "ENST00000380152.8|NM_000059.4" HGNC:1101 +HGNC:24185 BRCC3 BRCA1/BRCA2-containing complex subunit 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "C6.1A|BRCC36" Lys-63-specific deubiquitinase CXorf53 "chromosome X open reading frame 53|BRCA1/BRCA2-containing complex, subunit 3" "JAMM/MPN+ metallopeptidase family|BRCA1 A complex|BRISC complex" "999|1328|1375" 2004-12-03 2005-11-21 2015-11-12 2015-11-12 79184 ENSG00000185515 OTTHUMG00000022658 uc065cjq.1 X64643 NM_024332 "CCDS56611|CCDS56610|CCDS56612" P46736 "1303175|14636569" MGI:2389572 RGD:1588543 300617 268795 M67.004 HGNC:24185 "ENST00000330045.12|NM_001018055.3" HGNC:24185 +HGNC:51444 BRCC3P1 BRCA1/BRCA2-containing complex subunit 3 pseudogene 1 pseudogene pseudogene Approved 5q35.2 05q35.2 BRCA1/BRCA2-containing complex, subunit 3 pseudogene 1 2014-11-26 2015-11-12 2015-11-12 100421311 ENSG00000251667 OTTHUMG00000163184 NG_024746 PGOHUM00000301193 HGNC:51444 +HGNC:1102 BRD1 bromodomain containing 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "BRL|BRPF2" BR140-like bromodomain-containing 1 "PHD finger proteins|PWWP domain containing|Bromodomain containing" "88|1147|1232" 1999-10-29 2002-01-14 2020-09-17 23774 ENSG00000100425 OTTHUMG00000150288 uc032qrr.2 AF005067 NM_014577 "CCDS14080|CCDS77686" O95696 "10591208|10602503" MGI:1924161 RGD:1311855 604589 objectId:2724 HGNC:1102 "ENST00000404760.6|NM_001304808.3" +HGNC:1103 BRD2 bromodomain containing 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "KIAA9001|RING3|D6S113E|NAT|FSRG1" BRD2-IT1 "bromodomain-containing 2|BRD2 intronic transcript 1" "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 2000-07-25 2002-01-14 2020-09-17 6046 ENSG00000204256 OTTHUMG00000031241 uc003ocn.4 X96670 NM_001113182 "CCDS56420|CCDS4762|CCDS56421" P25440 "1352711|8781126" MGI:99495 RGD:1303324 601540 470008 objectId:1944 HGNC:1103 "ENST00000374825.9|NM_005104.4" +HGNC:1104 BRD3 bromodomain containing 3 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "RING3L|ORFX|KIAA0043" RING3-like bromodomain-containing 3 "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 2000-07-25 2002-01-14 2020-09-17 8019 ENSG00000169925 OTTHUMG00000021004 uc004cew.4 NM_007371 CCDS6980 Q15059 "7584044|8781126" MGI:1914632 RGD:1308925 BRD3 601541 470010 objectId:2725 HGNC:1104 "ENST00000303407.12|NM_007371.4" +HGNC:24742 BRD3OS BRD3 opposite strand protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "FLJ35348|bA374P20.3" "NCRNA00094|LINC00094" "non-protein coding RNA 94|long intergenic non-protein coding RNA 94" 2008-09-03 2017-08-11 2017-08-11 2021-11-04 266655 ENSG00000235106 OTTHUMG00000020880 uc064wwq.1 AK092667 NM_001355256 CCDS87707 A0A1B0GUI7 12477932 MGI:106557 LINC00094 HGNC:24742 "ENST00000603928.3|NM_001355256.2" +HGNC:13575 BRD4 bromodomain containing 4 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "HUNKI|MCAP|CAP|HUNK1" "chromosome-associated protein|mitotic chromosome-associated protein" bromodomain-containing 4 "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 2000-09-26 2002-01-14 2021-05-26 23476 ENSG00000141867 OTTHUMG00000183252 uc002nar.4 Y12059 NM_058243 "CCDS12328|CCDS46004|CCDS82307" O60885 10938129 MGI:1888520 RGD:1307282 BRD4 608749 449868 objectId:1945 HGNC:13575 "ENST00000679869.1|NM_001379291.1" HGNC:13575 +HGNC:14310 BRD7 bromodomain containing 7 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "CELTIX1|BP75|SMARCI1" bromodomain-containing 7 "Bromodomain containing|PBAF complex" "1232|1605" 2001-01-02 2002-01-14 2021-07-23 29117 ENSG00000166164 OTTHUMG00000133170 uc021thx.2 AF213969 NM_013263 "CCDS54007|CCDS10742" Q9NPI1 "10526152|18809673" MGI:1349766 RGD:1309891 618489 objectId:2726 HGNC:14310 "ENST00000394688.8|NM_013263.5" +HGNC:19923 BRD7P1 bromodomain containing 7 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 BRD7P bromodomain containing 7 pseudogene 2003-01-13 2009-11-25 2009-11-25 2020-04-20 100288948 ENSG00000259043 OTTHUMG00000170674 NG_022855 PGOHUM00000248110 HGNC:19923 +HGNC:33541 BRD7P2 bromodomain containing 7 pseudogene 2 pseudogene pseudogene Approved 3q25.33 03q25.33 2007-07-25 2014-11-18 647076 ENSG00000184100 OTTHUMG00000158952 NG_009641 PGOHUM00000238245 HGNC:33541 +HGNC:24171 BRD7P3 bromodomain containing 7 pseudogene 3 pseudogene pseudogene Approved 6q22.31 06q22.31 2007-07-25 2020-04-07 23629 ENSG00000169075 OTTHUMG00000015463 NR_002730 PGOHUM00000301927 HGNC:24171 +HGNC:37630 BRD7P4 bromodomain containing 7 pseudogene 4 pseudogene pseudogene Approved 6q21 06q21 2009-11-26 2014-11-19 100287229 ENSG00000218676 OTTHUMG00000015376 NG_053000 PGOHUM00000243742 HGNC:37630 +HGNC:37631 BRD7P5 bromodomain containing 7 pseudogene 5 pseudogene pseudogene Approved 13q32.1 13q32.1 2009-11-26 2014-11-19 100129259 ENSG00000235768 OTTHUMG00000017211 NG_009642 PGOHUM00000248464 HGNC:37631 +HGNC:37632 BRD7P6 bromodomain containing 7 pseudogene 6 pseudogene pseudogene Approved 2p13.3 02p13.3 2009-11-26 2014-11-19 100128042 ENSG00000235289 OTTHUMG00000153163 NG_016161 PGOHUM00000240674 HGNC:37632 +HGNC:19874 BRD8 bromodomain containing 8 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "SMAP|p120" "Bromodomain containing|Tip60/Nua4 histone acetyltransferase complex subunits" "1232|1634" 2003-02-07 2016-10-05 10902 ENSG00000112983 OTTHUMG00000129204 uc003lcf.2 AF016270 NM_006696 "CCDS54907|CCDS34241|CCDS4198" Q9H0E9 "8611617|9368056" MGI:1925906 RGD:1307003 602848 objectId:2727 HGNC:19874 "ENST00000254900.10|NM_139199.2" +HGNC:25818 BRD9 bromodomain containing 9 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FLJ13441|SMARCI2" "Bromodomain containing|BAF complex|GBAF complex" "1232|1604|1606" 2004-01-08 2021-07-23 65980 ENSG00000028310 OTTHUMG00000159258 uc003jbq.4 AK023503 NM_023924 "CCDS34127|CCDS34128" Q9H8M2 26365797 MGI:2145317 RGD:1307359 618465 objectId:2728 HGNC:25818 "ENST00000467963.6|NM_023924.5" +HGNC:51445 BRD9P1 bromodomain containing 9 pseudogene 1 pseudogene pseudogene Approved 11q13.2 11q13.2 2014-11-26 2014-11-26 106481721 ENSG00000254736 OTTHUMG00000166923 NG_043387 PGOHUM00000291008 HGNC:51445 +HGNC:51446 BRD9P2 bromodomain containing 9 pseudogene 2 pseudogene pseudogene Approved 5p15.33 05p15.33 2014-11-26 2014-11-26 109729114 ENSG00000249908 OTTHUMG00000162147 NG_068470 PGOHUM00000300474 +HGNC:1105 BRDT bromodomain testis associated protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "BRD6|CT9" cancer/testis antigen 9 bromodomain, testis-specific "Bromodomain and extra-terminal domain family|Bromodomain containing" "1231|1232" 1997-08-15 2016-03-03 2020-09-17 676 ENSG00000137948 OTTHUMG00000010113 uc001dol.5 AF019085 NM_207189 "CCDS55616|CCDS55615|CCDS735|CCDS72820" Q58F21 9367677 MGI:1891374 RGD:1306678 602144 objectId:2729 HGNC:1105 "ENST00000399546.7|NM_207189.4" +HGNC:51447 BRDTP1 bromodomain testis associated pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 bromodomain, testis-specific pseudogene 1 2014-11-26 2016-03-03 2016-03-03 643486 ENSG00000271209 OTTHUMG00000185081 NR_003539 PGOHUM00000304766 HGNC:51447 +HGNC:11551 BRF1 BRF1 RNA polymerase III transcription initiation factor subunit protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "TFIIIB90|BRF|hBRF" "TAF3B2|TAF3C|GTF3B" "TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2|BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)|BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit" "General transcription factors|General transcription factor IIIB complex subunits " "565|1879" 1998-08-20 2001-12-07 2019-01-22 2019-01-22 2972 ENSG00000185024 OTTHUMG00000029884 uc010axg.2 U28838 NM_001519 "CCDS10001|CCDS55950|CCDS55952|CCDS55949|CCDS55953|CCDS42001|CCDS55951" Q92994 "7624363|8943358" MGI:1919558 RGD:1311158 604902 448647 HGNC:11551 "ENST00000547530.7|NM_001519.4" HGNC:11551 +HGNC:17298 BRF2 BRF2 RNA polymerase III transcription initiation factor subunit protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "FLJ11052|BRFU|TFIIIB50" "BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like|BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit" 2001-11-30 2019-01-22 2019-01-22 55290 ENSG00000104221 OTTHUMG00000164025 uc003xkk.4 AF298153 NM_018310 CCDS6098 Q9HAW0 "11483580|11564744" MGI:1913903 RGD:1308817 607013 HGNC:17298 "ENST00000220659.11|NM_018310.4" +HGNC:1109 BRI3 brain protein I3 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 2000-02-25 2020-09-17 25798 ENSG00000164713 OTTHUMG00000154275 uc003upi.3 AF106966 NM_015379 "CCDS5656|CCDS55133" O95415 14592447 MGI:1933174 RGD:1309187 615628 HGNC:1109 "ENST00000297290.4|NM_015379.5" +HGNC:14251 BRI3BP BRI3 binding protein protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "BNAS1|KG19|HCCR-2|HCCRBP-3" 2002-01-03 2016-10-05 140707 ENSG00000184992 OTTHUMG00000168548 uc001uha.2 AF284094 NM_080626 CCDS9262 Q8WY22 "11860200|17765869" MGI:1924059 RGD:1561711 615627 HGNC:14251 "ENST00000341446.9|NM_080626.6" +HGNC:51482 BRI3BPP1 BRI3 binding protein pseudogene 1 pseudogene pseudogene Approved 19p12 19p12 2014-12-11 2014-12-11 100129976 ENSG00000269136 OTTHUMG00000182874 NG_021759 PGOHUM00000295286 HGNC:51482 +HGNC:33533 BRI3P1 brain protein I3 pseudogene 1 pseudogene pseudogene Approved 1p21.2 01p21.2 2007-07-19 2014-11-19 730010 ENSG00000225169 OTTHUMG00000010919 NG_009718 PGOHUM00000244816 HGNC:33533 +HGNC:32543 BRI3P2 brain protein I3 pseudogene 2 pseudogene pseudogene Approved 12p12.1 12p12.1 2007-07-19 2020-04-07 441630 ENSG00000213736 OTTHUMG00000169030 NG_009662 PGOHUM00000291263 HGNC:32543 +HGNC:32544 BRI3P3 brain protein I3 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2007-07-19 2020-04-07 100101554 ENSG00000230273 OTTHUMG00000059357 NG_032028 PGOHUM00000293975 HGNC:32544 +HGNC:28309 BRICD5 BRICHOS domain containing 5 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC21830 C16orf79 chromosome 16 open reading frame 79 BRICHOS domain containing 457 2006-08-17 2012-10-10 2012-10-10 2014-11-18 283870 ENSG00000182685 OTTHUMG00000128831 uc002cpi.3 BC039154 NM_182563 CCDS10463 Q6PL45 12477932 MGI:2441766 RGD:1596720 HGNC:28309 "ENST00000328540.8|NM_182563.4" +HGNC:2687 BRINP1 BMP/retinoic acid inducible neural specific 1 protein-coding gene gene with protein product Approved 9q33.1 09q33.1 FAM5A "DBCCR1|DBC1" "deleted in bladder cancer chromosome region candidate 1|deleted in bladder cancer 1|bone morphogenetic protein/retinoic acid inducible neural-specific 1" 1996-10-02 2013-07-31 2016-02-23 2016-10-05 1620 ENSG00000078725 OTTHUMG00000021020 AF027734 NM_014618 CCDS6822 O60477 "9175739|10444335|15193422" MGI:1928478 RGD:708519 602865 HGNC:2687 "ENST00000265922.8|NM_014618.3" +HGNC:13746 BRINP2 BMP/retinoic acid inducible neural specific 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 DBCCR1L2 FAM5B "family with sequence similarity 5, member B|bone morphogenetic protein/retinoic acid inducible neural-specific 2" 2005-03-18 2013-07-31 2016-02-23 2016-10-05 57795 ENSG00000198797 OTTHUMG00000034953 NM_021165 CCDS1320 Q9C0B6 15193423 MGI:2443333 RGD:708419 619359 HGNC:13746 "ENST00000361539.5|NM_021165.4" +HGNC:22393 BRINP3 BMP/retinoic acid inducible neural specific 3 protein-coding gene gene with protein product Approved 1q31.1 01q31.1 "DBCCR1L|DBCCR1L1" FAM5C "family with sequence similarity 5, member C|bone morphogenetic protein/retinoic acid inducible neural-specific 3" 2005-03-18 2013-09-18 2016-02-23 2016-02-23 339479 ENSG00000162670 OTTHUMG00000035533 AB111893 NM_199051 CCDS1373 Q76B58 "16018821|15193423" MGI:2443035 RGD:708421 618390 HGNC:22393 "ENST00000367462.5|NM_199051.3" +HGNC:50577 BRINP3-DT BRINP3 divergent transcript non-coding RNA RNA, long non-coding Approved 1q31.1 01q31.1 LINC01351 long intergenic non-protein coding RNA 1351 Divergent transcripts 1990 2014-05-21 2021-06-28 2021-06-28 2021-06-28 101929120 ENSG00000237457 OTTHUMG00000035535 NR_110716 LINC01351 HGNC:50577 +HGNC:20473 BRIP1 BRCA1 interacting helicase 1 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "OF|BACH1|FANCJ" "BRCA1/BRCA2-associated helicase 1|FANCJ helicase|BRCA1-associated C-terminal helicase|BRCA1 interacting protein 1" BRCA1 interacting protein C-terminal helicase 1 "FA complementation groups|DNA helicases|BRCA1 B complex" "548|1167|1335" 2003-04-11 2021-03-11 2021-04-13 83990 ENSG00000136492 OTTHUMG00000179233 uc002izk.3 AF360549 NM_032043 CCDS11631 Q9BX63 "11595410|11301010" MGI:2442836 RGD:1307659 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCJ|LRG_300|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_300.xml" BRIP1 605882 119080 HGNC:20473 "ENST00000259008.7|NM_032043.3" HGNC:20473 +HGNC:24170 BRIX1 biogenesis of ribosomes BRX1 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "BRIX|FLJ11100" BXDC2 "brix domain containing 2|BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2005-04-22 2009-09-25 2019-01-18 2019-03-11 55299 ENSG00000113460 OTTHUMG00000162021 uc003jja.4 NM_018321 CCDS34143 Q8TDN6 "11864606|11843177" MGI:1915082 RGD:1308508 618466 HGNC:24170 "ENST00000336767.6|NM_018321.4" +HGNC:51527 BRIX1P1 BRIX1 pseudogene 1 pseudogene pseudogene Approved 8q11.22 08q11.22 BRX1, biogenesis of ribosomes pseudogene 1 2015-02-13 2019-01-18 2019-01-18 100422268 ENSG00000254025 OTTHUMG00000164863 NG_026100 PGOHUM00000303541 HGNC:51527 +HGNC:23057 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "MDS027|HSPC300" "haematopoietic stem/progenitor cell protein 300|BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog (Arabidopsis thaliana)" C3orf10 "chromosome 3 open reading frame 10|BRICK1, SCAR/WAVE actin-nucleating complex subunit|BRICK1, SCAR/WAVE actin nucleating complex subunit" SCAR/WAVE complex 1793 2004-02-26 2011-06-07 2019-02-07 2019-02-07 55845 ENSG00000254999 OTTHUMG00000155400 uc003bvb.4 AF161418 NM_018462 CCDS54553 Q8WUW1 14695531 MGI:1915406 RGD:1598136 611183 HGNC:23057 "ENST00000530758.2|NM_018462.5" +HGNC:42020 BRK1P1 BRICK1 pseudogene 1 pseudogene pseudogene Approved Xp22.31 Xp22.31 2019-02-07 2019-02-07 100288031 ENSG00000219870 OTTHUMG00000021113 NG_030299 HGNC:42020 +HGNC:42021 BRK1P2 BRK1 pseudogene 2 pseudogene pseudogene Approved 13q31.3 13q31.3 BRICK1, SCAR/WAVE actin-nucleating complex subunit pseudogene 2 2011-08-15 2019-01-18 2019-01-18 100874492 ENSG00000227983 OTTHUMG00000017186 NG_032391 PGOHUM00000257957 HGNC:42021 +HGNC:28153 BRME1 break repair meiotic recombinase recruitment factor 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "MGC11271|MEIOK21" "BRCA2 and MEILB2-associating protein 1|meiosis-specific 4930432K21RIK" C19orf57 chromosome 19 open reading frame 57 2006-08-21 2020-08-19 2020-08-19 2020-09-07 79173 ENSG00000132016 OTTHUMG00000181851 uc002mxl.2 BC012945 NM_024323 CCDS12299 Q0VDD7 "32345962|32460033|32463460|32845237" MGI:1921916 RGD:1306072 619276 HGNC:28153 "ENST00000586783.6|NM_001345843.2" +HGNC:17262 BRMS1 BRMS1 transcriptional repressor and anoikis regulator protein-coding gene gene with protein product Approved 11q13.2 11q13.2 DKFZP564A063 breast cancer metastasis suppressor 1 2003-12-02 2019-01-22 2019-01-22 25855 ENSG00000174744 OTTHUMG00000167081 uc001ohp.2 AF147350 NM_015399 "CCDS8135|CCDS44654" Q9HCU9 10850410 MGI:2388804 RGD:1311057 606259 HGNC:17262 "ENST00000359957.8|NM_015399.4" +HGNC:20512 BRMS1L BRMS1 like transcriptional repressor protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "MGC11296|FLJ39177" BRMS1 "breast cancer metastasis-suppressor 1|breast cancer metastasis-suppressor 1 like" 2003-03-05 2003-12-03 2018-05-04 2018-05-04 84312 ENSG00000100916 OTTHUMG00000170559 uc001wtl.4 AK096496 NM_032352 CCDS32066 Q5PSV4 MGI:1196337 RGD:1306006 618514 HGNC:20512 "ENST00000216807.12|NM_032352.4" +HGNC:26512 BROX BRO1 domain and CAAX motif containing protein-coding gene gene with protein product Approved 1q41 01q41 FLJ32421 BRO1 domain containing protein C1orf58 chromosome 1 open reading frame 58 2005-05-13 2010-11-30 2010-11-30 2015-08-24 148362 ENSG00000162819 OTTHUMG00000037650 uc001hns.2 NM_144695 "CCDS73036|CCDS1534|CCDS73037" Q5VW32 18190528 MGI:1918928 RGD:1307161 HGNC:26512 "ENST00000340934.10|NM_144695.4" +HGNC:14255 BRPF1 bromodomain and PHD finger containing 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 BR140 "peregrin|bromodomain-containing protein, 140kD" bromodomain and PHD finger containing, 1 "PHD finger proteins|PWWP domain containing|Bromodomain containing" "88|1147|1232" 2000-12-14 2015-11-11 2021-05-26 7862 ENSG00000156983 OTTHUMG00000097033 uc062glp.1 M91585 NM_001003694 "CCDS82730|CCDS33692|CCDS82729|CCDS2575" P55201 "8946209|7906940" MGI:1926033 RGD:1584828 602410 470012 objectId:2730 HGNC:14255 "ENST00000383829.7|NM_001003694.2" HGNC:14255 +HGNC:14256 BRPF3 bromodomain and PHD finger containing 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 KIAA1286 bromodomain and PHD finger containing, 3 "PHD finger proteins|PWWP domain containing|Bromodomain containing" "88|1147|1232" 2000-12-14 2015-11-11 2015-11-11 27154 ENSG00000096070 OTTHUMG00000014589 uc003olv.5 AB033112 NM_015695 CCDS34437 Q9ULD4 10574462 MGI:2146836 RGD:1306868 616856 objectId:2731 HGNC:14256 "ENST00000357641.10|NM_015695.3" +HGNC:55591 BRPF3-AS1 BRPF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 Antisense RNAs 1987 2021-04-28 2021-04-28 102723648 ENSG00000246982 XR_001744105 +HGNC:1113 BRS3 bombesin receptor subtype 3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "BB3|BB3R|BBR3" bombesin like receptor 3 Bombesin receptors 222 1993-11-08 2016-06-07 2020-09-17 680 ENSG00000102239 OTTHUMG00000022726 uc004ezv.2 NM_001727 CCDS14656 P32247 8383682 MGI:1100501 RGD:628645 300107 objectId:40 HGNC:1113 "ENST00000370648.4|NM_001727.2" +HGNC:18994 BRSK1 BR serine/threonine kinase 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 KIAA1811 2005-01-12 2016-10-05 84446 ENSG00000160469 OTTHUMG00000180735 uc002qkg.4 AB058714 NM_032430 CCDS12921 Q8TDC3 14976552 MGI:2685946 RGD:1563268 609235 objectId:1946 HGNC:18994 "ENST00000309383.6|NM_032430.2" +HGNC:11405 BRSK2 BR serine/threonine kinase 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 PEN11B "serine/threonine kinase 29|brain selective kinase 2" "C11orf7|STK29" chromsosome 11 open reading frame 7 1999-12-17 2005-01-27 2003-09-11 2021-11-25 9024 ENSG00000174672 OTTHUMG00000167089 uc001ltj.5 AF020089 NM_003957 "CCDS58107|CCDS58106|CCDS41590|CCDS60696|CCDS58108" Q8IWQ3 "9852686|9929968" MGI:1923020 RGD:1566256 609236 objectId:1947 HGNC:11405 "ENST00000528841.6|NM_001256627.2" HGNC:11405 +HGNC:12760 BRWD1 bromodomain and WD repeat domain containing 1 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "FLJ11315|N143|DCAF19" "C21orf107|WDR9" "chromosome 21 open reading frame 107|WD repeat domain 9" "WD repeat domain containing|DDB1 and CUL4 associated factors|Bromodomain containing" "362|498|1232" 2000-05-23 2005-05-13 2005-05-13 2015-09-11 54014 ENSG00000185658 OTTHUMG00000066030 uc002yxk.3 AJ002572 NM_033656 "CCDS33557|CCDS13663|CCDS13662" Q9NSI6 MGI:1890651 RGD:1309030 617824 objectId:2732 HGNC:12760 "ENST00000342449.8|NM_033656.4" +HGNC:40614 BRWD1-AS1 BRWD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 BRWD1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2021-06-28 100874093 ENSG00000238141 OTTHUMG00000133705 uc031rvp.2 NR_046655 HGNC:40614 +HGNC:16423 BRWD1-AS2 BRWD1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 "C21orf87|NCRNA00257|BRWD1-IT2" "chromosome 21 open reading frame 87|non-protein coding RNA 257|BRWD1 intronic transcript 2 (non-protein coding)" Antisense RNAs 1987 2001-08-24 2014-04-08 2014-04-08 2020-04-20 103091865 ENSG00000255568 OTTHUMG00000066154 AF426265 NR_111942 P59051 12036297 HGNC:16423 +HGNC:41920 BRWD1-IT1 BRWD1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 BRWD1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-18 2015-02-25 2015-02-25 106480743 ENSG00000237373 OTTHUMG00000133692 uc062adn.1 BRWD1-IT1 +HGNC:51528 BRWD1P1 bromodomain and WD repeat domain containing 1 pseudogene 1 pseudogene pseudogene Approved 1p36.21 01p36.21 2015-02-13 2015-02-13 106481724 ENSG00000215909 OTTHUMG00000007922 NG_043410 PGOHUM00000296221 HGNC:51528 +HGNC:51529 BRWD1P2 bromodomain and WD repeat domain containing 1 pseudogene 2 pseudogene pseudogene Approved 12q21.33 12q21.33 2015-02-26 2015-02-26 100287505 ENSG00000258290 OTTHUMG00000169951 NG_030127 PGOHUM00000291426 HGNC:51529 +HGNC:51530 BRWD1P3 bromodomain and WD repeat domain containing 1 pseudogene 3 pseudogene pseudogene Approved 7p21.1 07p21.1 2015-02-13 2015-02-13 106480688 ENSG00000232841 OTTHUMG00000152463 NG_043313 PGOHUM00000302058 HGNC:51530 +HGNC:17342 BRWD3 bromodomain and WD repeat domain containing 3 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "FLJ38568|MRX93" "WD repeat domain containing|Bromodomain containing" "362|1232" 2005-01-07 2020-04-02 254065 ENSG00000165288 OTTHUMG00000021908 uc004edt.4 NM_153252 CCDS14447 Q6RI45 "15543602|16094372" MGI:3029414 RGD:1559445 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BRWD3 300553 159239 objectId:2775 HGNC:17342 "ENST00000373275.5|NM_153252.5" HGNC:17342 +HGNC:15832 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin protein-coding gene gene with protein product Approved 11q12.3 11q12.3 seipin "GNG3LG|SPG17" "spastic paraplegia 17 (Silver syndrome)|Berardinelli-Seip congenital lipodystrophy 2 (seipin)|BSCL2, seipin lipid droplet biogenesis associated" 2001-07-02 2019-01-25 2021-05-26 26580 ENSG00000168000 OTTHUMG00000150624 uc001nup.4 NM_032667 "CCDS8031|CCDS44627|CCDS55769" Q96G97 "11479539|14981520" MGI:1298392 RGD:1308135 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_235|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_235.xml" 606158 119085 HGNC:15832 "ENST00000360796.10|NM_001122955.4" HGNC:15832 +HGNC:25501 BSDC1 BSD domain containing 1 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "FLJ10276|RP4-811H24.7" 2005-07-20 2014-11-19 55108 ENSG00000160058 OTTHUMG00000007588 uc001bvh.5 BX641056 NM_018045 "CCDS44101|CCDS44102|CCDS72752|CCDS363|CCDS44103" Q9NW68 12477932 MGI:1913466 RGD:1311622 617518 HGNC:25501 "ENST00000455895.7|NM_018045.8" +HGNC:1116 BSG basigin (Ok blood group) protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "EMMPRIN|CD147|EMPRIN" "Ok blood group|extracellular matrix metalloproteinase inducer|Tumor cell-derived collagenase stimulatory factor" OK basigin "Blood group antigens|CD molecules|I-set domain containing|Basigin family " "454|471|593|1669" 1993-10-25 2014-01-02 2021-09-16 682 ENSG00000172270 OTTHUMG00000177718 uc002loz.6 L10240 NM_001728 "CCDS58635|CCDS12034|CCDS12033" P35613 "8404035|7812975" MGI:88208 RGD:2220 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_816|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_816.xml" 109480 objectId:3127 CD147 HGNC:1116 "ENST00000333511.9|NM_001728.4" +HGNC:55286 BSG-AS1 BSG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Antisense RNAs 1987 2020-10-14 2020-10-14 105372233 ENSG00000267751 XR_007067074 +HGNC:1117 BSN bassoon presynaptic cytomatrix protein protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "zinc finger protein 231|neuronal double zinc finger protein" ZNF231 bassoon (presynaptic cytomatrix protein) Zinc fingers PCLO-type 2125 1999-01-07 2013-01-07 2020-09-17 8927 ENSG00000164061 OTTHUMG00000133750 uc003cxe.5 AF052224 NM_003458 CCDS2800 Q9UPA5 "9806829|10329005" MGI:1277955 RGD:2223 604020 HGNC:1117 "ENST00000296452.5|NM_003458.4" +HGNC:40102 BSN-AS1 BSN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 BSN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 106478963 ENSG00000235120 OTTHUMG00000156880 uc062jvb.1 BSN-AS1 +HGNC:42445 BSN-DT BSN divergent transcript non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 BSN-AS2 "BSN antisense RNA 2 (non-protein coding)|BSN antisense RNA 2 (head to head)" Divergent transcripts 1990 2011-07-28 2018-03-22 2018-03-22 2018-03-22 100132677 ENSG00000226913 OTTHUMG00000156881 uc003cxd.1 NR_038866 BSN-AS2 HGNC:42445 +HGNC:16512 BSND barttin CLCNK type accessory subunit beta protein-coding gene gene with protein product Approved 1p32.3 01p32.3 BART DFNB73 "deafness, autosomal recessive 73|Bartter syndrome, infantile, with sensorineural deafness (Barttin)" Chloride voltage-gated channels 302 2004-01-28 2019-11-26 2021-05-26 7809 ENSG00000162399 OTTHUMG00000008112 uc001cye.4 AY034632 NM_057176 CCDS602 Q8WZ55 "11687798|11734858|19646679" MGI:2153465 RGD:621139 LRG_1282|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1282.xml 606412 119089 HGNC:16512 "ENST00000651561.1|NM_057176.3" HGNC:16512 +HGNC:51536 BSNDP1 BSND pseudogene 1 pseudogene pseudogene Approved 20p11.1 20p11.1 "barttin CLCNK-type chloride channel accessory beta subunit pseudogene 1|barttin CLCNK type accessory beta subunit pseudogene 1" 2015-02-26 2019-11-26 2019-11-26 106480329 ENSG00000275048 OTTHUMG00000187967 NG_045173 PGOHUM00000297077 HGNC:51536 +HGNC:51537 BSNDP2 BSND pseudogene 2 pseudogene pseudogene Approved 20p11.1 20p11.1 "barttin CLCNK-type chloride channel accessory beta subunit pseudogene 2|barttin CLCNK type accessory beta subunit pseudogene 2" 2015-02-26 2019-11-26 2019-11-26 100422517 ENSG00000274973 OTTHUMG00000187970 NG_025001 PGOHUM00000297078 HGNC:51537 +HGNC:51538 BSNDP3 BSND pseudogene 3 pseudogene pseudogene Approved 20p11.1 20p11.1 "barttin CLCNK-type chloride channel accessory beta subunit pseudogene 3|barttin CLCNK type accessory beta subunit pseudogene 3" 2015-02-26 2019-11-26 2019-11-26 106481725 ENSG00000277508 OTTHUMG00000187972 NG_043420 PGOHUM00000296936 HGNC:51538 +HGNC:51539 BSNDP4 BSND pseudogene 4 pseudogene pseudogene Approved 7p11.2 07p11.2 "barttin CLCNK-type chloride channel accessory beta subunit pseudogene 4|barttin CLCNK type accessory beta subunit pseudogene 4" 2015-02-26 2019-11-26 2019-11-26 106481726 ENSG00000229627 OTTHUMG00000156086 NG_043429 PGOHUM00000302685 HGNC:51539 +HGNC:33906 BSPH1 binder of sperm protein homolog 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "ELSPBP2|BSP1" "epididymal sperm binding protein 2|bovine seminal plasma protein homolog 1" 2008-10-28 2016-10-05 100131137 ENSG00000188334 OTTHUMG00000183137 uc002phs.1 DQ227497 NM_001128326 CCDS46135 Q075Z2 "17085770|18923155" MGI:2685613 RGD:1594649 612213 HGNC:33906 "ENST00000344839.3|NM_001128326.2" +HGNC:18232 BSPRY B-box and SPRY domain containing protein-coding gene gene with protein product Approved 9q32 09q32 FLJ20150 2003-05-22 2016-10-05 54836 ENSG00000119411 OTTHUMG00000021006 uc004bhg.5 AJ276691 NM_017688 CCDS43868 Q5W0U4 "10978534|11099500" MGI:2177191 RGD:708400 619683 HGNC:18232 "ENST00000374183.5|NM_017688.3" +HGNC:1118 BST1 bone marrow stromal cell antigen 1 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "CD157|BST-1" "NAD(+) nucleosidase|ADP-ribosyl cyclase 2" CD molecules 471 1994-11-17 2021-01-18 683 ENSG00000109743 OTTHUMG00000097739 uc003goh.4 D21878 NM_004334 CCDS3416 Q10588 8202488 MGI:105370 RGD:620344 600387 CD157 3.2.2.5 HGNC:1118 "ENST00000265016.9|NM_004334.3" +HGNC:1119 BST2 bone marrow stromal cell antigen 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "CD317|tetherin|BST-2|HM1.24" antiviral factor tetherin CD molecules 471 1994-11-17 2021-05-26 684 ENSG00000130303 OTTHUMG00000191770 uc060vid.1 NM_004335 CCDS12358 Q10589 7607676 MGI:1916800 RGD:727849 600534 CD317 HGNC:1119 "ENST00000252593.7|NM_004335.4" +HGNC:20450 BSX brain specific homeobox protein-coding gene gene with protein product Approved 11q24.1 11q24.1 BSX1 NKL subclass homeoboxes and pseudogenes 519 2007-07-09 2015-11-23 2015-11-23 390259 ENSG00000188909 OTTHUMG00000150247 uc010rzs.3 NM_001098169 CCDS41728 Q3C1V8 MGI:2669849 RGD:1565120 611074 8533 HGNC:20450 "ENST00000343035.3|NM_001098169.2" +HGNC:17307 BTAF1 B-TFIID TATA-box binding protein associated factor 1 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 "TAFII170|TAF172|MOT1|TAF-172|TAF(II)170" Mot1 homolog (S. cerevisiae) "BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)|BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa" Armadillo like helical domain containing 1492 2001-12-03 2015-11-20 2016-10-05 9044 ENSG00000095564 OTTHUMG00000018752 uc001khr.4 AJ001017 NM_003972 CCDS7419 O14981 "9342322|9488487" MGI:2147538 RGD:1564130 605191 HGNC:17307 "ENST00000265990.12|NM_003972.3" +HGNC:1120 BTBD1 BTB domain containing 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 BTB (POZ) domain containing 1 BTB domain containing 861 2000-05-02 2016-02-12 2020-09-17 53339 ENSG00000064726 OTTHUMG00000147364 uc002bjn.4 AF355402 NM_001011885 "CCDS10322|CCDS32313" Q9H0C5 MGI:1933765 RGD:1310962 608530 HGNC:1120 "ENST00000261721.9|NM_025238.4" +HGNC:15504 BTBD2 BTB domain containing 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 BTB (POZ) domain containing 2 BTB domain containing 861 2001-04-05 2016-02-12 2016-02-12 55643 ENSG00000133243 OTTHUMG00000180017 uc002lup.2 AF355797 NM_017797 CCDS12078 Q9BX70 11179693 MGI:1933831 RGD:1566094 608531 HGNC:15504 "ENST00000255608.9|NM_017797.4" +HGNC:15854 BTBD3 BTB domain containing 3 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "KIAA0952|dJ742J24.1" BTB (POZ) domain containing 3 BTB domain containing 861 2001-06-21 2016-02-12 2016-02-12 22903 ENSG00000132640 OTTHUMG00000031889 uc002wny.5 AB023169 NM_001282550 "CCDS13113|CCDS13114" Q9Y2F9 MGI:2385155 RGD:1311623 615566 HGNC:15854 "ENST00000378226.7|NM_014962.4" +HGNC:40728 BTBD3-AS1 BTBD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 Antisense RNAs 1987 2021-06-30 2021-06-30 121832811 ENSG00000236526 OTTHUMG00000031890 +HGNC:19897 BTBD6 BTB domain containing 6 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 BDPL BTB (POZ) domain containing 6 BTB domain containing 861 2002-12-03 2016-02-12 2016-04-25 90135 ENSG00000184887 OTTHUMG00000029887 uc059fzp.1 AF353674 NM_001387567 CCDS10002 Q96KE9 MGI:3026623 RGD:1597323 HGNC:19897 "ENST00000392554.8|NM_001387567.1" +HGNC:51542 BTBD6P1 BTB domain containing 6 pseudogene 1 pseudogene pseudogene Approved 1p36.11 01p36.11 BTB (POZ) domain containing 6 pseudogene 1 2015-02-26 2016-02-12 2016-02-12 646330 ENSG00000229106 OTTHUMG00000013894 NG_011624 PGOHUM00000295588 HGNC:51542 +HGNC:18269 BTBD7 BTB domain containing 7 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "FLJ10648|FUP1" BTB (POZ) domain containing 7 BTB domain containing 861 2003-12-10 2016-02-12 2016-10-05 55727 ENSG00000011114 OTTHUMG00000171269 uc001ybo.5 AB040958 NM_001002860 "CCDS32147|CCDS32146|CCDS73684" Q9P203 "10819331|11527404" MGI:1917858 RGD:1306262 610386 HGNC:18269 "ENST00000334746.10|NM_001002860.4" +HGNC:44875 BTBD7P1 BTB domain containing 7 pseudogene 1 pseudogene pseudogene Approved 10p13 10p13 BTB (POZ) domain containing 7 pseudogene 1 2012-12-10 2016-02-12 2016-02-12 441548 ENSG00000203414 OTTHUMG00000017686 NG_022140 PGOHUM00000238354 HGNC:44875 +HGNC:44876 BTBD7P2 BTB domain containing 7 pseudogene 2 pseudogene pseudogene Approved 10q25.2 10q25.2 BTB (POZ) domain containing 7 pseudogene 2 2012-12-10 2016-02-12 2016-02-12 100420392 ENSG00000237618 OTTHUMG00000019053 NG_025540 PGOHUM00000238923 HGNC:44876 +HGNC:21019 BTBD8 BTB domain containing 8 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 BTB (POZ) domain containing 8 BTB domain containing 861 2004-04-02 2016-02-12 2018-04-19 284697 ENSG00000189195 OTTHUMG00000191888 uc001doo.5 AY346333 NM_183242 Q5XKL5 14654994 MGI:3646208 RGD:2321418 617945 HGNC:21019 "ENST00000636805.2|NM_001376131.1" +HGNC:21228 BTBD9 BTB domain containing 9 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "KIAA1880|dJ322I12.1" BTB (POZ) domain containing 9 BTB domain containing 861 2003-05-29 2016-02-12 2016-10-05 114781 ENSG00000183826 OTTHUMG00000014634 uc010jwx.4 NM_152733 "CCDS43458|CCDS47418|CCDS54998" Q96Q07 11572484 MGI:1916625 RGD:1306975 611237 HGNC:21228 "ENST00000481247.6|NM_001099272.2" +HGNC:40959 BTBD9-AS1 BTBD9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 BTBD9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-04 2012-08-15 2020-04-20 101929425 ENSG00000226533 OTTHUMG00000014632 uc063ohe.1 NR_144472 BTBD9-AS1 HGNC:40959 +HGNC:21445 BTBD10 BTB domain containing 10 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "GMRP1|GMRP-1|MGC13007" BTB (POZ) domain containing 10 BTB domain containing 861 2005-08-12 2016-02-12 2016-10-05 84280 ENSG00000148925 OTTHUMG00000165787 uc001mkz.4 AY221959 NM_032320 "CCDS76388|CCDS7811|CCDS73261" Q9BSF8 15556295 MGI:1916065 RGD:1306301 615933 HGNC:21445 "ENST00000278174.10|NM_032320.7" +HGNC:51540 BTBD10P1 BTB domain containing 10 pseudogene 1 pseudogene pseudogene Approved 12q13.13 12q13.13 BTB (POZ) domain containing 10 pseudogene 1 2015-02-26 2016-02-12 2016-02-12 100128678 ENSG00000257675 OTTHUMG00000169767 NG_021719 PGOHUM00000291668 HGNC:51540 +HGNC:51541 BTBD10P2 BTB domain containing 10 pseudogene 2 pseudogene pseudogene Approved 6q25.1 06q25.1 BTB (POZ) domain containing 10 pseudogene 2 2015-02-26 2016-02-12 2016-02-12 100420401 ENSG00000219433 OTTHUMG00000015797 NG_025984 PGOHUM00000301982 HGNC:51541 +HGNC:23844 BTBD11 BTB domain containing 11 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ33957|ABTB2B" BTB (POZ) domain containing 11 "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2003-12-15 2016-02-12 2016-10-05 121551 ENSG00000151136 OTTHUMG00000150413 uc001tmk.2 AK091276 NM_152322 "CCDS41827|CCDS86332|CCDS31893" A6QL63 MGI:1921257 RGD:1308647 HGNC:23844 "ENST00000280758.10|NM_001018072.2" +HGNC:26340 BTBD16 BTB domain containing 16 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "FLJ25359|Em:AC061711.1" C10orf87 "chromosome 10 open reading frame 87|BTB (POZ) domain containing 16" BTB domain containing 861 2004-03-16 2006-07-04 2016-02-12 2016-02-12 118663 ENSG00000138152 OTTHUMG00000019182 uc001lgc.2 AK058088 NM_144587 CCDS31301 Q32M84 MGI:3045247 RGD:1311454 HGNC:26340 "ENST00000260723.6|NM_144587.5" +HGNC:33758 BTBD17 BTB domain containing 17 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "LGALS3BPL|BTBD17A|TANGO10A" transport and golgi organization 10 homolog A (Drosophila) BTB (POZ) domain containing 17 BTB domain containing 861 2008-07-25 2016-02-12 2016-02-12 388419 ENSG00000204347 OTTHUMG00000178580 uc002jkn.3 NM_001080466 CCDS32719 A6NE02 MGI:1919264 RGD:1563331 HGNC:33758 "ENST00000375366.4|NM_001080466.2" +HGNC:37214 BTBD18 BTB domain containing 18 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 BTB (POZ) domain containing 18 BTB domain containing 861 2009-09-08 2016-02-12 2016-02-12 643376 ENSG00000233436 OTTHUMG00000167203 uc010rjy.3 NM_001145101 CCDS44603 B2RXH4 MGI:3650217 RGD:2323370 HGNC:37214 "ENST00000422652.6|NM_001145101.3" +HGNC:27145 BTBD19 BTB domain containing 19 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 BTB (POZ) domain containing 19 BTB domain containing 861 2009-10-01 2016-02-12 2016-02-12 149478 ENSG00000222009 OTTHUMG00000008493 uc010ole.1 NM_001136537 C9JJ37 MGI:1925861 RGD:2320529 HGNC:27145 +HGNC:1121 BTC betacellulin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 1994-07-21 2020-09-17 685 ENSG00000174808 OTTHUMG00000130107 uc003hig.3 S55606 NM_001316963 CCDS3566 P35070 "8439318|11522793" MGI:99439 RGD:620275 600345 ligandId:4873 HGNC:1121 "ENST00000395743.8|NM_001729.4" +HGNC:1122 BTD biotinidase protein-coding gene gene with protein product Approved 3p25.1 03p25.1 biotinase Vanin family 10 1994-03-30 2021-03-09 686 ENSG00000169814 OTTHUMG00000129861 uc003cah.5 AF018631 NM_000060 CCDS63565 P43251 8001986 MGI:1347001 RGD:1305316 609019 119092 3.5.1.12 HGNC:1122 "ENST00000643237.3|NM_001370658.1" HGNC:1122 +HGNC:1125 BTF3 basic transcription factor 3 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "BTF3a|BTF3b" NACB nascent-polypeptide-associated complex beta polypeptide 1993-09-28 2020-09-17 689 ENSG00000145741 OTTHUMG00000102031 uc003kcq.2 M90352 NM_001207 "CCDS4019|CCDS34185" P20290 "2320128|1386332|15716105" MGI:1202875 RGD:1308095 602542 HGNC:1125 "ENST00000380591.8|NM_001037637.2" +HGNC:55211 BTF3-DT BTF3 divergent transcript non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 Divergent transcripts 1990 2020-08-21 2020-08-21 118568828 ENSG00000272525 +HGNC:30547 BTF3L4 basic transcription factor 3 like 4 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 MGC23908 2005-05-26 2016-06-28 2018-06-04 91408 ENSG00000134717 OTTHUMG00000008960 uc001ctk.4 BC021004 NM_152265 "CCDS30713|CCDS58001|CCDS44146" Q96K17 20008835 MGI:1915312 RGD:1311774 HGNC:30547 "ENST00000313334.13|NM_152265.5" +HGNC:39645 BTF3L4P1 basic transcription factor 3 like 4 pseudogene 1 pseudogene pseudogene Approved 21q21.1 21q21.1 2011-03-18 2016-06-28 2016-06-28 100505945 ENSG00000232260 OTTHUMG00000074502 NG_028972 PGOHUM00000239042 HGNC:39645 +HGNC:39646 BTF3L4P2 basic transcription factor 3 like 4 pseudogene 2 pseudogene pseudogene Approved 2q24.2 02q24.2 2011-03-18 2016-06-28 2016-06-28 653189 ENSG00000213189 OTTHUMG00000153946 NG_006120 PGOHUM00000241001 HGNC:39646 +HGNC:39647 BTF3L4P3 basic transcription factor 3 like 4 pseudogene 3 pseudogene pseudogene Approved 6q23.3 06q23.3 2011-03-18 2016-06-28 2016-06-28 391040 ENSG00000213108 OTTHUMG00000015658 NG_030609 PGOHUM00000243392 HGNC:39647 +HGNC:39648 BTF3L4P4 basic transcription factor 3 like 4 pseudogene 4 pseudogene pseudogene Approved 4q32.3 04q32.3 2011-03-18 2016-06-28 2016-06-28 100506061 ENSG00000229226 OTTHUMG00000161472 NG_013376 PGOHUM00000250739 HGNC:39648 +HGNC:1129 BTF3P1 BTF3 pseudogene 1 pseudogene pseudogene Approved 8q11.23 08q11.23 HUMBTFA lambda h16 basic transcription factor 3, pseudogene 1 1997-12-12 2019-01-18 2019-01-18 693 ENSG00000254225 OTTHUMG00000164245 M90353 NG_001086 1386332 PGOHUM00000303202 HGNC:1129 +HGNC:19924 BTF3P2 BTF3 pseudogene 2 pseudogene pseudogene Approved 14q12 14q12 basic transcription factor 3, pseudogene 2 2003-01-13 2019-01-18 2019-01-18 283631 ENSG00000258282 OTTHUMG00000170386 NG_002470 PGOHUM00000292306 HGNC:19924 +HGNC:31100 BTF3P3 BTF3 pseudogene 3 pseudogene pseudogene Approved 8p21.3 08p21.3 basic transcription factor 3, pseudogene 3 2005-10-06 2019-01-18 2020-04-20 652964 ENSG00000254272 OTTHUMG00000163803 NG_005367 PGOHUM00000249592 HGNC:31100 +HGNC:38566 BTF3P4 basic transcription factor 3 pseudogene 4 pseudogene pseudogene Approved 9q21.13 09q21.13 2010-06-18 2010-06-18 2014-11-19 392350 ENSG00000224820 OTTHUMG00000020004 NG_005362 PGOHUM00000236207 HGNC:38566 +HGNC:38565 BTF3P5 basic transcription factor 3 pseudogene 5 pseudogene pseudogene Approved 2p16.1 02p16.1 2010-06-18 2014-11-19 652959 ENSG00000233594 OTTHUMG00000152119 NG_005363 PGOHUM00000250428 HGNC:38565 +HGNC:23765 BTF3P6 basic transcription factor 3 pseudogene 6 pseudogene pseudogene Approved 21q22.11 21q22.11 2010-06-17 2010-06-18 2010-06-18 2014-11-19 100499261 ENSG00000233956 OTTHUMG00000065805 NG_023442 PGOHUM00000264288 HGNC:23765 +HGNC:38569 BTF3P7 basic transcription factor 3 pseudogene 7 pseudogene pseudogene Approved 6p25.1 06p25.1 2010-06-18 2014-11-18 652960 ENSG00000219986 OTTHUMG00000014194 NG_005364 PGOHUM00000243052 HGNC:38569 +HGNC:38572 BTF3P8 basic transcription factor 3 pseudogene 8 pseudogene pseudogene Approved Xq11.1 Xq11.1 2010-06-18 2010-06-18 2014-11-19 652961 ENSG00000236813 OTTHUMG00000021701 NG_016975 PGOHUM00000241808 HGNC:38572 +HGNC:38573 BTF3P9 basic transcription factor 3 pseudogene 9 pseudogene pseudogene Approved 1q42.13 01q42.13 2010-06-18 2014-11-19 503543 ENSG00000224834 OTTHUMG00000037616 NG_004831 PGOHUM00000251147 HGNC:38573 +HGNC:38570 BTF3P10 basic transcription factor 3 pseudogene 10 pseudogene pseudogene Approved 6q25.1 06q25.1 RAET1J retinoic acid early transcript 1J pseudogene 2010-06-18 2014-11-19 345829 ENSG00000231120 OTTHUMG00000015813 NG_005361 11827464 PGOHUM00000243818 HGNC:38570 +HGNC:1126 BTF3P11 basic transcription factor 3 pseudogene 11 pseudogene pseudogene Approved 13q22.3 13q22.3 "HUMBTFB|TNFRSF11B|OPG|OCIF" "lambda h27A|BTF3 homologue" BTF3L1 "basic transcription factor 3, like 1|basic transcription factor 3-like 1, pseudogene|basic transcription factor 3, like 1 pseudogene" 1997-12-12 2010-10-01 2010-10-01 2016-10-05 690 ENSG00000118903 OTTHUMG00000017097 M90354 NR_026983 "9325059|1386332" 602543 PGOHUM00000248635 HGNC:1126 +HGNC:1127 BTF3P12 basic transcription factor 3 pseudogene 12 pseudogene pseudogene Approved 8q13.3 08q13.3 HUMBTFC lambda h23 BTF3L2 "basic transcription factor 3, like 2|basic transcription factor 3-like 2, pseudogene" 1997-12-12 2010-10-01 2010-10-01 2020-04-20 652963 ENSG00000213003 OTTHUMG00000164435 M90355 NG_005366 1386332 603738 PGOHUM00000249707 HGNC:1127 +HGNC:1128 BTF3P13 basic transcription factor 3 pseudogene 13 pseudogene pseudogene Approved 4q23 04q23 HUMBTFD lambda h33 BTF3L3 "basic transcription factor 3, like 3|basic transcription factor 3-like 3, pseudogene" 1997-12-12 2010-10-01 2010-10-01 2014-11-19 132556 ENSG00000227118 OTTHUMG00000161089 M90356 NG_006070 1386332 603739 PGOHUM00000246009 HGNC:1128 +HGNC:38571 BTF3P14 basic transcription factor 3 pseudogene 14 pseudogene pseudogene Approved 17p13.2 17p13.2 2010-06-18 2017-10-25 100132641 ENSG00000262609 OTTHUMG00000177820 NG_022441 PGOHUM00000293949 HGNC:38571 +HGNC:38567 BTF3P15 basic transcription factor 3 pseudogene 15 pseudogene pseudogene Approved 10q25.1 10q25.1 2010-06-18 2010-06-18 2014-11-19 100130409 ENSG00000237242 OTTHUMG00000019026 NG_028759 PGOHUM00000238915 HGNC:38567 +HGNC:38568 BTF3P16 basic transcription factor 3 pseudogene 16 pseudogene pseudogene Approved 3q12.3 03q12.3 2010-09-29 2014-11-19 643412 NG_005360 PGOHUM00000237698 HGNC:38568 +HGNC:1130 BTG1 BTG anti-proliferation factor 1 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 APRO2 B-cell translocation gene 1, anti-proliferative BTG/Tob family 1309 1993-12-14 2016-07-04 2021-04-13 694 ENSG00000133639 OTTHUMG00000170092 uc001tby.3 NM_001731 CCDS9043 P62324 15033446 MGI:88215 RGD:2224 LRG_1424|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1424.xml BTG1 109580 HGNC:1130 "ENST00000256015.5|NM_001731.3" +HGNC:55600 BTG1-DT BTG1 divergent transcript non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 Divergent transcripts 1990 2021-05-06 2021-05-06 101928617 ENSG00000245904 NR_135036 +HGNC:37692 BTG1P1 BTG anti-proliferation factor 1 pseudogene 1 pseudogene pseudogene Approved 12p13.31 12p13.31 B-cell translocation gene 1 pseudogene 1 2010-01-14 2016-07-04 2016-07-04 100129641 ENSG00000256720 OTTHUMG00000168328 NG_016577 PGOHUM00000291536 HGNC:37692 +HGNC:1131 BTG2 BTG anti-proliferation factor 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "PC3|TIS21|MGC126063|MGC126064|APRO1" "B-cell translocation gene 2|pheochromacytoma cell-3|NGF-inducible anti-proliferative protein PC3|nerve growth factor-inducible anti-proliferative" "BTG family, member 2|BTG family member 2" BTG/Tob family 1309 2000-02-29 2016-07-04 2020-09-17 7832 ENSG00000159388 OTTHUMG00000035834 uc001gzq.4 NM_006763 CCDS1437 P78543 8944033 MGI:108384 RGD:2225 601597 HGNC:1131 "ENST00000290551.5|NM_006763.3" +HGNC:49452 BTG2-DT BTG2 divergent transcript non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 LINC01136 long intergenic non-protein coding RNA 1136 Divergent transcripts 1990 2013-12-03 2021-07-05 2021-07-05 2021-07-05 730227 ENSG00000233791 OTTHUMG00000035835 NR_034150 LINC01136 HGNC:49452 +HGNC:1132 BTG3 BTG anti-proliferation factor 3 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "ANA|tob55|APRO4|ANA/BTG3" "BTG family, member 3|BTG family member 3" BTG/Tob family 1309 2000-02-29 2016-07-04 2020-09-17 10950 ENSG00000154640 OTTHUMG00000074501 uc002ykk.4 D64110 NM_006806 "CCDS13569|CCDS46636" Q14201 9632145 MGI:109532 RGD:2226 605674 HGNC:1132 "ENST00000348354.7|NM_006806.5" +HGNC:53145 BTG3-AS1 BTG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 ASBEL antisense ncRNA in the ANA/BTG3 locus Antisense RNAs 1987 2017-04-12 2018-07-20 110806272 ENSG00000280594 OTTHUMG00000190270 NR_149073 "23419616|27791078|29323740" HGNC:53145 +HGNC:51543 BTG3P1 BTG anti-proliferation factor 3 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 "BTG family, member 3 pseudogene 1|BTG family member 3 pseudogene 1" 2015-02-27 2016-07-04 2016-07-04 100419246 ENSG00000235334 OTTHUMG00000022361 NG_026879 PGOHUM00000305309 HGNC:51543 +HGNC:13862 BTG4 BTG anti-proliferation factor 4 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "PC3B|APRO3" "B-cell translocation gene 4|BTG family member 4" "BTG/Tob family|MicroRNA protein coding host genes" "1309|1691" 2000-11-15 2016-07-04 2016-07-04 54766 ENSG00000137707 OTTHUMG00000166718 uc001plj.4 AJ271351 NM_017589 CCDS8346 Q9NY30 10995567 MGI:1860140 RGD:1308809 605673 HGNC:13862 "ENST00000692032.1|NM_001367975.1" HGNC:13862 +HGNC:51544 BTG4P1 BTG anti-proliferation factor 4 pseudogene 1 pseudogene pseudogene Approved 5p14.1 05p14.1 B-cell translocation gene 4 pseudogene 1 2015-02-27 2016-07-04 2016-07-04 106480330 ENSG00000248156 OTTHUMG00000161888 NG_044501 PGOHUM00000300532 HGNC:51544 +HGNC:1133 BTK Bruton tyrosine kinase protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "ATK|XLA|PSCTK1" Bruton's tyrosine kinase "AGMX1|IMD1" Bruton agammaglobulinemia tyrosine kinase "Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases" "682|741|1457" 1986-01-01 2015-11-27 2021-05-26 695 ENSG00000010671 OTTHUMG00000022022 uc004ehg.3 AK057105 NM_000061 "CCDS76003|CCDS14482|CCDS76002" Q06187 8380905 MGI:88216 RGD:1359683 "BTK base: Mutation registry for X-linked agammaglobulinemia|http://structure.bmc.lu.se/idbase/BTKbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/BTK|LRG_128|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_128.xml" BTK 300300 119094 objectId:1948 2.7.10.1 HGNC:1133 "ENST00000308731.8|NM_000061.3" HGNC:1133 +HGNC:21087 BTLA B and T lymphocyte associated protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "BTLA1|CD272" "CD molecules|Immunoglobulin like domain containing" "471|594" 2003-08-20 2014-11-19 151888 ENSG00000186265 OTTHUMG00000159255 uc003dza.5 AY293286 NM_181780 "CCDS43130|CCDS33819" Q7Z6A9 12796776 MGI:2658978 RGD:1303280 607925 ligandId:4891 CD272 HGNC:21087 "ENST00000334529.10|NM_181780.4" +HGNC:1135 BTN1A1 butyrophilin subfamily 1 member A1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BT|BTN1" BTN butyrophilin, subfamily 1, member A1 "Butyrophilins|V-set domain containing|C2-set domain containing" "458|590|592" 1995-07-11 2015-12-11 2020-09-17 696 ENSG00000124557 OTTHUMG00000016358 uc003nif.5 U39576 NM_001732 CCDS4614 Q13410 "8114113|9382921" MGI:103118 RGD:1306984 601610 HGNC:1135 "ENST00000684113.1|NM_001732.3" +HGNC:51545 BTN1A1P1 butyrophilin subfamily 1 member A1 pseudogene 1 pseudogene pseudogene Approved 6p22.2 06p22.2 butyrophilin, subfamily 1, member A1 pseudogene 1 2015-02-27 2015-12-11 2020-04-07 100420941 ENSG00000284688 NG_025907 PGOHUM00000301694 HGNC:51545 +HGNC:1136 BTN2A1 butyrophilin subfamily 2 member A1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BT2.1|BTF1|BTN2.1" butyrophilin, subfamily 2, member A1 "Butyrophilins|V-set domain containing|C2-set domain containing" "458|590|592" 1999-08-27 2015-12-11 2020-09-17 11120 ENSG00000112763 OTTHUMG00000014457 uc003nib.4 U90543 NM_007049 "CCDS56405|CCDS56404|CCDS47390|CCDS4613" Q7KYR7 "9382921|9149941" MGI:3606486 613590 HGNC:1136 "ENST00000312541.10|NM_007049.5" +HGNC:1137 BTN2A2 butyrophilin subfamily 2 member A2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BTF2|BT2.2|BTN2.2" butyrophilin, subfamily 2, member A2 "Butyrophilins|V-set domain containing|C2-set domain containing" "458|590|592" 1999-08-27 2015-12-11 2020-09-17 10385 ENSG00000124508 OTTHUMG00000014452 uc003nhq.4 U90550 NM_001197237 "CCDS4606|CCDS4607|CCDS56403|CCDS56402|CCDS56401" Q8WVV5 "10354554|9149941" MGI:3606486 RGD:1306973 613591 HGNC:1137 "ENST00000356709.9|NM_006995.5" +HGNC:13229 BTN2A3P butyrophilin subfamily 2 member A3, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 BTN2.3 BTN2A3 "butyrophilin, subfamily 2, member A3|butyrophilin, subfamily 2, member A3, pseudogene" Butyrophilins 458 2001-06-25 2011-09-06 2015-12-11 2016-10-05 54718 ENSG00000124549 OTTHUMG00000014453 AL021917 NR_027795 Q96KV6 MGI:3606486 613592 PGOHUM00000260151 HGNC:13229 +HGNC:1138 BTN3A1 butyrophilin subfamily 3 member A1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BT3.1|BTF5|CD277|BTN3.1" butyrophilin, subfamily 3, member A1 "Butyrophilins|CD molecules|V-set domain containing|C2-set domain containing" "458|471|590|592" 1999-08-27 2015-12-11 2020-09-17 11119 ENSG00000026950 OTTHUMG00000014449 uc003nhv.3 U90552 NM_001145008 "CCDS47389|CCDS4608|CCDS47388|CCDS4609" O00481 9149941 MGI:2182073 613593 objectId:2948 CD277 HGNC:1138 "ENST00000289361.11|NM_007048.6" +HGNC:1139 BTN3A2 butyrophilin subfamily 3 member A2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 BTN3.2 butyrophilin, subfamily 3, member A2 "Butyrophilins|V-set domain containing" "458|590" 1999-08-27 2015-12-11 2020-09-17 11118 ENSG00000186470 OTTHUMG00000014450 uc063mgs.1 U90546 NM_001197246 "CCDS56400|CCDS56399|CCDS4605" P78410 9149941 MGI:2182073 613594 HGNC:1139 "ENST00000377708.7|NM_007047.5" +HGNC:1140 BTN3A3 butyrophilin subfamily 3 member A3 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "BTF3|BTN3.3" butyrophilin, subfamily 3, member A3 "Butyrophilins|V-set domain containing" "458|590" 1999-08-27 2015-12-11 2020-09-17 10384 ENSG00000111801 OTTHUMG00000014451 uc003nhz.3 U90548 NM_006994 "CCDS4612|CCDS4611" O00478 "10354554|9149941" MGI:2182073 613595 HGNC:1140 "ENST00000244519.7|NM_006994.5" +HGNC:1142 BTNL2 butyrophilin like 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "HSBLMHC1|BTL-II|BTN7" "butyrophilin-like 2 (MHC class II associated)|butyrophilin-like 2" "Butyrophilins|V-set domain containing|C2-set domain containing" "458|590|592" 2000-08-22 2016-01-06 2020-09-17 56244 ENSG00000204290 OTTHUMG00000031102 uc063nqv.1 AF186588 NM_019602 CCDS78126 Q9UIR0 "10803852|15735647" MGI:1859549 RGD:620731 606000 291915 HGNC:1142 "ENST00000454136.8|NM_001304561.2" +HGNC:1143 BTNL3 butyrophilin like 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "BTNLR|BTN9.1" butyrophilin-like receptor butyrophilin-like 3 "Butyrophilins|V-set domain containing" "458|590" 2000-08-22 2016-01-06 2020-09-17 10917 ENSG00000168903 OTTHUMG00000162091 uc003mmr.3 AB020625 NM_197975 CCDS47358 Q6UXE8 10429365 "MGI:1932027|MGI:1932036|MGI:1932038" 606192 objectId:2944 HGNC:1143 "ENST00000342868.7|NM_197975.3" +HGNC:26131 BTNL8 butyrophilin like 8 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ21458|BTN9.2" butyrophilin-like 8 "Butyrophilins|V-set domain containing" "458|590" 2004-04-05 2016-01-06 2016-01-06 79908 ENSG00000113303 OTTHUMG00000130932 uc003mmq.3 AK025111 NM_024850 "CCDS54958|CCDS54959|CCDS54956|CCDS43413|CCDS4459|CCDS54957" Q6UX41 12975309 "MGI:1932027|MGI:1932036|MGI:1932038" 615606 objectId:2947 HGNC:26131 "ENST00000340184.9|NM_001040462.3" +HGNC:24176 BTNL9 butyrophilin like 9 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ32535|BTN8" butyrophilin-like 9 "Butyrophilins|V-set domain containing" "458|590" 2004-04-05 2016-01-06 2016-01-06 153579 ENSG00000165810 OTTHUMG00000133152 uc003mmt.3 AK057097 NM_152547 "CCDS78104|CCDS4460" Q6UXG8 MGI:2442439 RGD:1590287 HGNC:24176 "ENST00000327705.14|NM_152547.5" +HGNC:42540 BTNL10 butyrophilin like 10 other unknown Approved 1q42.13 01q42.13 "BUTR1|BTN4" butyrophilin-like 10 "Butyrophilins|V-set domain containing" "458|590" 2012-03-27 2016-01-06 2019-06-20 100129094 ENSG00000215811 OTTHUMG00000191924 NM_001287262 A8MVZ5 MGI:2182073 RGD:1559732 HGNC:42540 +HGNC:1144 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "bTrCP|betaTrCP|FBXW1A|Fwd1|beta-TrCP1|bTrCP1" beta-transducin repeat containing "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 1999-01-28 2012-02-23 2020-09-17 8945 ENSG00000166167 OTTHUMG00000018932 uc001kta.5 Y14153 NM_033637 "CCDS7512|CCDS7511|CCDS73183" Q9Y297 "9660940|10331953|18354483" MGI:1338871 RGD:1359721 603482 360504 HGNC:1144 "ENST00000370187.8|NM_033637.4" +HGNC:51546 BTRCP1 beta-transducin repeat containing E3 ubiquitin protein ligase pseudogene 1 pseudogene pseudogene Approved 6q23.3 06q23.3 2015-03-03 2015-03-09 100420631 NG_025874 PGOHUM00000301562 HGNC:51546 +HGNC:1148 BUB1 BUB1 mitotic checkpoint serine/threonine kinase protein-coding gene gene with protein product Approved 2q13 02q13 "hBUB1|BUB1A" BUB1L "budding uninhibited by benzimidazoles 1 (yeast homolog)|budding uninhibited by benzimidazoles 1 homolog (yeast)" 1997-08-18 2016-01-15 2020-09-17 699 ENSG00000169679 OTTHUMG00000153638 uc002tgc.5 AF046078 NM_004336 "CCDS62984|CCDS62985|CCDS33273" O43683 9441741 MGI:1100510 RGD:1311707 602452 367084 objectId:1949 HGNC:1148 "ENST00000302759.11|NM_004336.5" HGNC:1148 +HGNC:1149 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "BUBR1|MAD3L|Bub1A|SSK1" "budding uninhibited by benzimidazoles 1 (yeast homolog), beta|budding uninhibited by benzimidazoles 1 homolog beta (yeast)" 1998-03-25 2016-01-15 2021-05-26 701 ENSG00000156970 OTTHUMG00000129877 uc001zkx.5 AF107297 NM_001211 CCDS10053 O60566 9889005 MGI:1333889 RGD:619791 LRG_489|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_489.xml BUB1B 602860 119101 objectId:1950 HGNC:1149 "ENST00000287598.11|NM_001211.6" HGNC:1149 +HGNC:52276 BUB1B-PAK6 BUB1B-PAK6 readthrough other readthrough Approved 15q15.1 15q15.1 2017-01-23 2017-01-23 106821730 ENSG00000259288 OTTHUMG00000172398 NM_001128628 MGI:2679420 HGNC:52276 +HGNC:49529 BUB1P1 BUB1 mitotic checkpoint serine/threonine kinase pseudogene 1 pseudogene pseudogene Approved 10q26.2 10q26.2 2014-01-08 2016-01-15 2016-01-15 100422363 ENSG00000270778 OTTHUMG00000184638 NG_025548 PGOHUM00000238967 HGNC:49529 +HGNC:1151 BUB3 BUB3 mitotic checkpoint protein protein-coding gene gene with protein product Approved 10q26.13 10q26.13 BUB3L "BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog|budding uninhibited by benzimidazoles 3 homolog (yeast)" WD repeat domain containing 362 1999-02-17 2019-01-18 2020-09-17 9184 ENSG00000154473 OTTHUMG00000019197 uc001lhe.3 AF053304 NM_001007793 "CCDS7635|CCDS31306" O43684 9660858 MGI:1343463 RGD:1306654 603719 367095 HGNC:1151 "ENST00000368865.9|NM_004725.4" HGNC:1151 +HGNC:51559 BUB3P1 BUB3 mitotic checkpoint protein pseudogene 1 pseudogene pseudogene Approved 7q31.1 07q31.1 2015-03-05 2015-03-05 646614 ENSG00000227968 OTTHUMG00000154869 NG_009438 PGOHUM00000302391 HGNC:51559 +HGNC:28199 BUD13 BUD13 homolog protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "MGC13125|fSAP71|Cwc26" functional spliceosome-associated protein 71 "BUD13 homolog (yeast)|BUD13 homolog (S. cerevisiae)" "NTC associated proteins|Spliceosomal P complex" "1498|1516" 2006-03-10 2015-07-02 2017-11-23 84811 ENSG00000137656 OTTHUMG00000045136 uc001ppn.4 BC006350 NM_032725 "CCDS8374|CCDS53712" Q9BRD0 25218446 MGI:2443443 RGD:1308076 HGNC:28199 "ENST00000260210.5|NM_032725.4" +HGNC:55834 BUD13-DT BUD13 divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Divergent transcripts 1990 2021-08-02 2021-08-02 122455333 ENSG00000226645 +HGNC:51560 BUD13P1 BUD13 homolog pseudogene 1 pseudogene pseudogene Approved 11q21 11q21 BUD13 homolog (S. cerevisiae) pseudogene 1 2015-03-05 2015-07-02 2015-07-02 100420358 ENSG00000270689 OTTHUMG00000184754 NG_024552 PGOHUM00000291110 HGNC:51560 +HGNC:16405 BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "MGC19709|MGC2022|MGC5140|PP3381|WBMT|MERM1" metastasis-related methyltransferase 1 WBSCR22 "Williams Beuren syndrome chromosome region 22|Williams-Beuren syndrome chromosome region 22" "Ribosomal biogenesis factors|7BS DNA/RNA methyltransferases" "1729|2059" 2001-08-24 2017-02-22 2019-01-18 2019-03-11 114049 ENSG00000071462 OTTHUMG00000023306 uc003tyt.4 AF420248 NM_001202560 "CCDS56490|CCDS5557" O43709 "12073013|21148752|25851604" MGI:1913388 RGD:1589742 615733 2.1.1.309 HGNC:16405 "ENST00000265758.7|NM_017528.5" +HGNC:29629 BUD31 BUD31 homolog protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "YCR063W|EDG-2|EDG2|fSAP17|Cwc14" functional spliceosome-associated protein 17 G10 "G10 maternal transcript homolog (Xenopus laevis)|BUD31 homolog (yeast)|BUD31 homolog (S. cerevisiae)" "NTC associated proteins|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1498|1507|1508|1510|1516" 2006-03-10 2006-03-16 2015-07-02 2017-03-10 8896 ENSG00000106245 OTTHUMG00000154602 uc003uqf.4 BC022821 NM_003910 CCDS5663 P41223 7841202 MGI:2141291 RGD:621103 603477 HGNC:29629 "ENST00000222969.10|NM_003910.4" +HGNC:51561 BUD31P1 BUD31 homolog pseudogene 1 pseudogene pseudogene Approved 8p12 08p12 BUD31 homolog (S. cerevisiae) pseudogene 1 2015-03-05 2015-07-02 2015-07-02 106480331 ENSG00000253684 OTTHUMG00000163963 NG_044511 PGOHUM00000303153 HGNC:51561 +HGNC:51562 BUD31P2 BUD31 homolog pseudogene 2 pseudogene pseudogene Approved Xq13.3 Xq13.3 BUD31 homolog (S. cerevisiae) pseudogene 2 2015-03-05 2015-07-02 2015-07-02 106480332 ENSG00000229661 OTTHUMG00000021861 NG_044520 PGOHUM00000305158 HGNC:51562 +HGNC:1152 BVES blood vessel epicardial substance protein-coding gene gene with protein product Approved 6q21 06q21 "HBVES|POP1|POPDC1" popeye domain containing 1 2000-01-10 2020-09-17 11149 ENSG00000112276 OTTHUMG00000015291 uc003pqy.4 AF124512 NM_147147 CCDS5051 Q8NE79 "10441744|10882522" MGI:1346013 RGD:1561100 604577 470014 HGNC:1152 "ENST00000314641.10|NM_001199563.2" HGNC:1152 +HGNC:21223 BVES-AS1 BVES antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 bA99L11.2 C6orf112 "chromosome 6 open reading frame 112|BVES antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-11-25 2012-02-06 2012-08-15 2014-11-18 154442 ENSG00000203808 OTTHUMG00000015292 uc063qia.1 AL137368 NR_037157 Q5T3Y7 BVES-AS1 HGNC:21223 +HGNC:1153 BVR1 Burkitt lymphoma variant rearranging region 1 other region Approved 8q24 08q24 1990-09-10 2019-10-10 700 M16601 9790502 +HGNC:1157 BYSL bystin like protein-coding gene gene with protein product Approved 6p21.1 06p21.1 Enp1 bystin-like SSU processome 1484 1998-05-05 2015-11-17 2020-09-17 705 ENSG00000112578 OTTHUMG00000014687 uc003orl.4 L36720 NM_004053 CCDS34450 Q13895 "9925933|17381424" MGI:1858419 RGD:727959 603871 HGNC:1157 "ENST00000230340.9|NM_004053.4" +HGNC:18380 BZW1 basic leucine zipper and W2 domains 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "BZAP45|KIAA0005" 2002-08-05 2016-10-05 9689 ENSG00000082153 OTTHUMG00000154560 uc002uwc.4 D13630 NM_014670 "CCDS56155|CCDS56156|CCDS56154" Q7L1Q6 "10964520|11524015" MGI:1914132 RGD:735129 619252 HGNC:18380 "ENST00000409600.6|NM_001207067.2" +HGNC:40839 BZW1-AS1 BZW1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 Antisense RNAs 1987 2019-07-24 2019-07-24 101927795 ENSG00000230408 OTTHUMG00000154546 NR_110275 HGNC:40839 +HGNC:31378 BZW1P1 basic leucine zipper and W2 domains 1 pseudogene 1 pseudogene pseudogene Approved 3q26.31 03q26.31 2005-10-06 2015-03-25 391592 ENSG00000236686 OTTHUMG00000156945 NG_008827 PGOHUM00000299270 HGNC:31378 +HGNC:33954 BZW1P2 basic leucine zipper and W2 domains 1 pseudogene 2 pseudogene pseudogene Approved 3q13.31 03q13.31 BZW1L1 basic leucine zipper and W2 domains 1 like 1 2008-01-24 2010-10-01 2010-10-01 2014-11-19 151579 ENSG00000198406 OTTHUMG00000159328 NG_022890 PGOHUM00000237731 HGNC:33954 +HGNC:18808 BZW2 basic leucine zipper and W2 domains 2 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "HSPC028|MST017|MSTP017" 2002-08-05 2016-10-05 28969 ENSG00000136261 OTTHUMG00000130755 uc003stj.3 AF083246 NM_014038 "CCDS5362|CCDS87482" Q9Y6E2 11042152 MGI:1914162 RGD:621507 619275 HGNC:18808 "ENST00000258761.8|NM_014038.3" +HGNC:29911 C1D C1D nuclear receptor corepressor protein-coding gene gene with protein product Approved 2p14 02p14 "SUNCOR|SUN-CoR|LRP1|Rrp47" small unique nuclear receptor co-repressor C1D nuclear receptor co-repressor 2009-02-06 2010-06-10 2016-10-05 10438 ENSG00000197223 OTTHUMG00000129564 uc002seb.4 NM_006333 CCDS1883 Q13901 "9469821|17599775|17412707|11801738|9405624" MGI:1927354 RGD:1560600 606997 HGNC:29911 "ENST00000410067.8|NM_173177.3" +HGNC:31465 C1DP1 C1D nuclear receptor corepressor pseudogene 1 pseudogene pseudogene Approved 10p11.22 10p11.22 bA195O1.1 C1D nuclear receptor co-repressor pseudogene 1 2010-03-23 2010-06-10 2016-10-05 554049 ENSG00000231245 OTTHUMG00000017927 NG_005140 HGNC:31465 +HGNC:31660 C1DP2 C1D nuclear receptor corepressor pseudogene 2 pseudogene pseudogene Approved 10q22.3 10q22.3 bA369J21.3 C1D nuclear receptor co-repressor pseudogene 2 2010-03-23 2010-06-10 2014-11-19 642538 ENSG00000236217 OTTHUMG00000018599 XM_926027 PGOHUM00000238559 HGNC:31660 +HGNC:31661 C1DP3 C1D nuclear receptor corepressor pseudogene 3 pseudogene pseudogene Approved 10q22.3 10q22.3 bA369J21.2 C1D nuclear receptor co-repressor pseudogene 3 2010-03-23 2010-06-10 2014-11-19 642521 ENSG00000224760 OTTHUMG00000018598 NG_021448 PGOHUM00000238558 HGNC:31661 +HGNC:38028 C1DP4 C1D nuclear receptor corepressor pseudogene 4 pseudogene pseudogene Approved 10q22.3 10q22.3 C1D nuclear receptor co-repressor pseudogene 4 2010-03-23 2010-06-10 2014-11-19 727879 ENSG00000227515 OTTHUMG00000018600 NG_021449 PGOHUM00000238560 HGNC:38028 +HGNC:51613 C1DP5 C1D nuclear receptor corepressor pseudogene 5 pseudogene pseudogene Approved 11q14.1 11q14.1 2015-03-25 2015-03-25 106481729 ENSG00000254965 OTTHUMG00000167014 NG_043453 PGOHUM00000290610 HGNC:51613 +HGNC:24337 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 protein-coding gene gene with protein product Approved 7p22.1-p21.3 07p22.1-p21.3 "C1GALT|T-synthase" core 1 beta3-Gal-T Beta 3-glycosyltransferases 426 2005-01-26 2014-06-24 2018-02-13 56913 ENSG00000106392 OTTHUMG00000151912 uc003srb.4 AF155582 NM_020156 CCDS5355 Q9NS00 "10580128|11677243" MGI:2151071 RGD:621105 610555 2.4.1.122 HGNC:24337 "ENST00000436587.7|NM_020156.5" +HGNC:24338 C1GALT1C1 C1GALT1 specific chaperone 1 protein-coding gene gene with protein product Approved Xq24 Xq24 "COSMC|C1GALT2" 2005-01-26 2015-11-11 2020-04-02 29071 ENSG00000171155 OTTHUMG00000022305 uc004esz.4 AJ238398 NM_152692 CCDS14602 Q96EU7 "11042152|12361956" MGI:1913493 RGD:1311230 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/C1GALT1C1 300611 HGNC:24338 "ENST00000304661.6|NM_001011551.3" +HGNC:51617 C1GALT1C1L C1GALT1 specific chaperone 1 like protein-coding gene gene with protein product Approved 2p21 02p21 2015-04-08 2018-02-20 2018-02-20 728819 ENSG00000223658 OTTHUMG00000152807 NM_001101330 CCDS82442 P0DN25 HGNC:51617 "ENST00000475092.4|NM_001101330.3" +HGNC:51614 C1GALT1P1 C1GALT1 pseudogene 1 pseudogene pseudogene Approved 12q15 12q15 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 pseudogene 1 2015-03-25 2019-01-18 2019-01-18 729409 ENSG00000257818 OTTHUMG00000169341 NG_021725 PGOHUM00000291722 HGNC:51614 +HGNC:51615 C1GALT1P2 C1GALT1 pseudogene 2 pseudogene pseudogene Approved 5q11.2 05q11.2 "ore 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 pseudogene 2|core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 pseudogene 2" 2015-03-25 2019-01-18 2019-01-18 100128603 ENSG00000251435 OTTHUMG00000162308 NG_021881 PGOHUM00000300958 HGNC:51615 +HGNC:51616 C1GALT1P3 C1GALT1 pseudogene 3 pseudogene pseudogene Approved 8q12.3 08q12.3 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 pseudogene 3 2015-03-25 2019-01-18 2019-01-18 106481730 ENSG00000253544 OTTHUMG00000164341 NG_043459 PGOHUM00000303222 HGNC:51616 +HGNC:15494 C1orf21 chromosome 1 open reading frame 21 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 PIG13 proliferation-inducing protein 13 2001-04-27 2016-10-05 81563 ENSG00000116667 OTTHUMG00000035386 uc001gqv.2 AF312864 NM_030806 CCDS1362 Q9H246 11318611 MGI:1916649 RGD:1309104 HGNC:15494 "ENST00000235307.7|NM_030806.4" +HGNC:55249 C1orf21-DT C1orf21 divergent transcript non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Divergent transcripts 1990 2020-10-12 2020-10-12 118827814 ENSG00000271387 NR_172919 +HGNC:19032 C1orf35 chromosome 1 open reading frame 35 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "MGC4174|MMTAG2" multiple myeloma tumor-associated protein 2 2002-08-19 2021-04-28 79169 ENSG00000143793 OTTHUMG00000037793 uc001hrx.4 AY137773 NM_024319 CCDS1566 Q9BU76 "12545221|32103167" MGI:1915112 RGD:1304587 HGNC:19032 "ENST00000272139.5|NM_024319.4" +HGNC:29876 C1orf43 chromosome 1 open reading frame 43 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "NICE-3|DKFZp586G1722" 2004-09-14 2020-05-28 25912 ENSG00000143612 OTTHUMG00000035981 uc001fei.3 AF077036 NM_015449 "CCDS41404|CCDS76220|CCDS1061|CCDS1062|CCDS72924|CCDS76219" Q9BWL3 "11042152|11230159|31540829" MGI:1914027 RGD:1359625 617428 HGNC:29876 "ENST00000368521.10|NM_001098616.3" +HGNC:28795 C1orf50 chromosome 1 open reading frame 50 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 MGC955 2005-01-31 2016-10-24 79078 ENSG00000164008 OTTHUMG00000191873 uc001cia.5 BC001711 NM_024097 CCDS473 Q9BV19 12477932 MGI:2140466 RGD:1564804 HGNC:28795 "ENST00000372525.7|NM_024097.4" +HGNC:41212 C1orf50-AS1 C1orf50 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Antisense RNAs 1987 2021-12-10 2021-12-10 123706505 ENSG00000228452 OTTHUMG00000007569 +HGNC:24871 C1orf52 chromosome 1 open reading frame 52 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "gm117|FLJ44982" 2005-02-09 2017-08-01 148423 ENSG00000162642 OTTHUMG00000009966 uc001dkv.4 BC029538 NM_198077 CCDS703 Q8N6N3 11891061 MGI:1913671 RGD:1560065 HGNC:24871 "ENST00000471115.6|NM_198077.4" +HGNC:30003 C1orf53 chromosome 1 open reading frame 53 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 2005-05-19 2016-09-30 388722 ENSG00000203724 OTTHUMG00000035659 uc001guh.4 BC038214 NM_001024594 CCDS44290 Q5VUE5 15897902 MGI:1916799 RGD:1566099 HGNC:30003 "ENST00000367393.8|NM_001024594.3" +HGNC:26258 C1orf54 chromosome 1 open reading frame 54 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 FLJ23221 2005-04-21 2018-07-19 79630 ENSG00000118292 OTTHUMG00000012546 uc057kns.1 BC017761 NM_024579 "CCDS948|CCDS72905" Q8WWF1 29999589 MGI:2385885 HGNC:26258 "ENST00000369099.8|NM_024579.4" +HGNC:26045 C1orf56 chromosome 1 open reading frame 56 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "FLJ20519|MENT" methylated in normal thymocytes 2005-04-22 2021-08-23 54964 ENSG00000143443 OTTHUMG00000035159 uc001ewn.4 BC002469 NM_017860 CCDS980 Q9BUN1 "12975309|22133874" MGI:2684974 RGD:1359334 HGNC:26045 "ENST00000368926.6|NM_017860.5" +HGNC:29468 C1orf68 chromosome 1 open reading frame 68 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "LEP7|XP32" skin-specific protein 32 2005-05-18 2020-04-20 100129271 ENSG00000198854 OTTHUMG00000012401 uc010pdu.3 AF005081 NM_001024679 CCDS44226 Q5T750 "11698679|25411189" MGI:1913783 RGD:1585456 HGNC:29468 "ENST00000368775.3|NM_001024679.3" +HGNC:26319 C1orf74 chromosome 1 open reading frame 74 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "FLJ25078|URLC4" up-regulated in lung cancer 4 2005-05-19 2016-11-17 148304 ENSG00000162757 OTTHUMG00000036483 uc001hhp.2 AK057807 NM_152485 CCDS1491 Q96LT6 12477932 MGI:2441776 RGD:1642423 HGNC:26319 "ENST00000294811.2|NM_152485.4" +HGNC:28547 C1orf87 chromosome 1 open reading frame 87 protein-coding gene gene with protein product Approved 1p32.1 01p32.1 "MGC34837|CREF" carcinoma-related EF-hand protein 2005-05-27 2018-05-11 127795 ENSG00000162598 OTTHUMG00000008992 uc001czs.3 AK124828 NM_152377 CCDS614 Q8N0U7 25048349 MGI:3650206 RGD:1560146 618860 HGNC:28547 "ENST00000371201.3|NM_152377.3" +HGNC:28250 C1orf94 chromosome 1 open reading frame 94 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 MGC15882 2005-05-31 2016-10-05 84970 ENSG00000142698 OTTHUMG00000004012 uc001bxt.4 AK123355 NM_032884 "CCDS44108|CCDS381" Q6P1W5 25048349 MGI:3616080 RGD:1586982 470020 HGNC:28250 "ENST00000488417.2|NM_001134734.2" +HGNC:30435 C1orf100 chromosome 1 open reading frame 100 protein-coding gene gene with protein product Approved 1q44 01q44 2005-05-31 2016-09-30 200159 ENSG00000173728 OTTHUMG00000040104 uc001iah.5 BC054479 NM_001012970 "CCDS60465|CCDS31079" Q5SVJ3 MGI:1916678 RGD:1588722 HGNC:30435 "ENST00000308105.5|NM_001012970.3" +HGNC:29591 C1orf105 chromosome 1 open reading frame 105 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 2005-06-03 2016-09-30 92346 ENSG00000180999 OTTHUMG00000034750 uc001gik.3 AL035295 NM_139240 "CCDS72983|CCDS1301" O95561 12477932 MGI:1922618 RGD:1309106 HGNC:29591 "ENST00000367727.9|NM_139240.4" +HGNC:26039 C1orf109 chromosome 1 open reading frame 109 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ20508 2005-06-03 2020-11-30 54955 ENSG00000116922 OTTHUMG00000004323 uc001cbp.3 AK000515 NM_017850 CCDS423 Q9NX04 22548824 MGI:3041172 RGD:1560436 614799 HGNC:26039 "ENST00000486637.2|NM_001350770.2" +HGNC:25565 C1orf112 chromosome 1 open reading frame 112 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 FLJ10706 2005-06-08 2021-03-02 55732 ENSG00000000460 OTTHUMG00000035821 uc001ggp.4 AL354614 NM_018186 "CCDS81400|CCDS86030|CCDS81401|CCDS1285" Q9NSG2 "23039964|33625522" MGI:3590554 RGD:1563470 HGNC:25565 "ENST00000359326.9|NM_001320047.2" +HGNC:25873 C1orf115 chromosome 1 open reading frame 115 protein-coding gene gene with protein product Approved 1q41 01q41 "FLJ14146|RDD1" Required for Drug-induced Death 1 2005-06-10 2022-01-10 79762 ENSG00000162817 OTTHUMG00000037361 uc001hmp.2 AK024208 NM_024709 CCDS1524 Q9H7X2 32028983 MGI:2444831 RGD:1310587 HGNC:25873 "ENST00000294889.6|NM_024709.5" +HGNC:28667 C1orf116 chromosome 1 open reading frame 116 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "SARG|FLJ36507|MGC2742|MGC4309" specifically androgen-regulated gene 2005-06-30 2016-09-30 79098 ENSG00000182795 OTTHUMG00000036580 uc001hfd.3 NM_024115 "CCDS44306|CCDS1475" Q9BW04 "15525603|9389513" MGI:2138143 RGD:1565034 611680 HGNC:28667 "ENST00000359470.6|NM_023938.6" +HGNC:24789 C1orf122 chromosome 1 open reading frame 122 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ45459 2005-06-21 2005-08-09 2016-09-30 127687 ENSG00000197982 OTTHUMG00000004319 uc001ccd.3 AK127381 NM_198446 "CCDS427|CCDS44112" Q6ZSJ8 12477932 MGI:1916170 RGD:1559909 HGNC:24789 "ENST00000373042.5|NM_198446.3" +HGNC:26730 C1orf127 chromosome 1 open reading frame 127 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 FLJ37118 2005-06-23 2022-02-22 148345 ENSG00000175262 OTTHUMG00000002032 uc010oao.2 AK094437 NM_173507 CCDS53267 Q8N9H9 "14702039|34768622" MGI:2685418 RGD:1585063 619700 HGNC:26730 +HGNC:25332 C1orf131 chromosome 1 open reading frame 131 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 DKFZp547B1713 2005-06-30 2022-03-07 128061 ENSG00000143633 OTTHUMG00000038023 uc001hul.4 BC062353 NM_152379 "CCDS1591|CCDS73049" Q8NDD1 "12975309|34516797" MGI:1913773 RGD:1562218 HGNC:25332 "ENST00000366649.7|NM_152379.4" +HGNC:32044 C1orf141 chromosome 1 open reading frame 141 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 2005-07-08 2016-10-05 400757 ENSG00000203963 OTTHUMG00000009406 uc057hjb.1 BC090886 NM_001013674 "CCDS72804|CCDS30745" Q5JVX7 MGI:1918191 RGD:1562532 HGNC:32044 "ENST00000684719.1|NM_001276351.2" +HGNC:24032 C1orf146 chromosome 1 open reading frame 146 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 SPO16 2005-07-11 2019-08-16 388649 ENSG00000203910 OTTHUMG00000010285 uc001doq.4 NM_001012425 CCDS30772 Q5VVC0 "23844656|30746471" MGI:1923671 RGD:1586315 618968 HGNC:24032 "ENST00000370375.8|NM_001012425.2" +HGNC:32061 C1orf147 chromosome 1 open reading frame 147 other unknown Approved 1q32.1 01q32.1 FLJ32597 2005-07-12 2021-03-05 574431 ENSG00000162888 OTTHUMG00000036338 uc057owx.1 AK057159 NR_172918 Q96MC9 +HGNC:26062 C1orf159 chromosome 1 open reading frame 159 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ20584 2005-07-15 2016-09-30 54991 ENSG00000131591 OTTHUMG00000000745 uc001acu.3 AK128434 NM_017891 "CCDS81250|CCDS7|CCDS85917" Q96HA4 12975309 MGI:2444364 RGD:1311517 HGNC:26062 "ENST00000421241.7|NM_017891.5" +HGNC:28344 C1orf162 chromosome 1 open reading frame 162 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 MGC24133 2005-07-15 2016-09-30 128346 ENSG00000143110 OTTHUMG00000011750 uc001ebe.4 BC017973 NM_174896 "CCDS837|CCDS72837" Q8NEQ5 12477932 MGI:3588284 RGD:6493109 HGNC:28344 "ENST00000369718.4|NM_001300834.2" +HGNC:25262 C1orf167 chromosome 1 open reading frame 167 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "DKFZp434E1410|RP11-56N19.2" 2005-07-20 2020-03-25 284498 ENSG00000215910 OTTHUMG00000002228 uc057chg.1 AL834308 NM_001010881 Q5SNV9 "12370778|31256822|31175347" RGD:7658417 HGNC:25262 "ENST00000688073.1|NM_001010881.2" +HGNC:41091 C1orf167-AS1 C1orf167 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 Antisense RNAs 1987 2019-07-24 2019-07-24 102724659 ENSG00000177553 OTTHUMG00000037775 NR_126000 HGNC:41091 +HGNC:27915 C1orf174 chromosome 1 open reading frame 174 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 RP13-531C17.2 2005-07-21 2022-01-11 339448 ENSG00000198912 OTTHUMG00000003739 uc001alf.4 BC035643 NM_207356 CCDS53 Q8IYL3 31927188 MGI:2140680 RGD:1304567 HGNC:27915 "ENST00000361605.4|NM_207356.3" +HGNC:28096 C1orf185 chromosome 1 open reading frame 185 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ27485 2005-08-11 2016-09-30 284546 ENSG00000204006 OTTHUMG00000008084 uc001csh.4 AK130995 NM_001136508 CCDS44142 Q5T7R7 MGI:1914896 RGD:1591038 HGNC:28096 "ENST00000371759.7|NM_001136508.2" +HGNC:25900 C1orf198 chromosome 1 open reading frame 198 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "FLJ14525|MGC10710|FLJ16283|DKFZp667D152|FLJ38847" 2006-02-15 2017-08-01 84886 ENSG00000119280 OTTHUMG00000037790 uc001hub.4 BC066649 NM_032800 "CCDS44330|CCDS44331|CCDS1587" Q9H425 MGI:1916801 RGD:1559896 HGNC:25900 "ENST00000366663.10|NM_032800.3" +HGNC:28755 C1orf210 chromosome 1 open reading frame 210 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "MGC52423|TEMP" Type III Endosome Membrane Protein 2006-03-22 2019-10-03 149466 ENSG00000253313 OTTHUMG00000007289 uc001cit.5 BC041633 NM_182517 CCDS481 Q8IVY1 24710541 MGI:1913701 RGD:1305347 HGNC:28755 "ENST00000523677.6|NM_182517.3" +HGNC:26800 C1orf216 chromosome 1 open reading frame 216 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ38984 2007-07-10 2018-05-11 127703 ENSG00000142686 OTTHUMG00000004167 uc001bzh.2 AK096303 NM_152374 CCDS395 Q8TAB5 12477932 MGI:3609248 RGD:6486286 HGNC:26800 "ENST00000270815.5|NM_152374.2" +HGNC:33805 C1orf220 chromosome 1 putative open reading frame 220 other unknown Approved 1q25.2 01q25.2 FLJ35530 "chromosome 1 open reading frame 220 (putative)|chromosome 1 open reading frame 220" 2007-11-30 2021-03-05 2021-03-05 400798 ENSG00000213057 OTTHUMG00000035078 uc001glx.1 NR_033186 Q5T0J3 26186194 HGNC:33805 +HGNC:34351 C1orf226 chromosome 1 open reading frame 226 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 FLJ13137 2008-09-22 2017-07-11 400793 ENSG00000239887 OTTHUMG00000031376 uc010pkt.2 "AI480219|AK023199|AK125122|AL512785|BC127743" NM_001085375 "CCDS44268|CCDS53422" A1L170 14702039 MGI:3649135 HGNC:34351 "ENST00000458626.4|NM_001085375.2" +HGNC:53426 C1orf232 chromosome 1 open reading frame 230 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 2017-03-31 2017-08-10 110806296 ENSG00000282872 OTTHUMG00000191595 NM_001364667 A0A0U1RR37 MGI:5589350 RGD:11378091 HGNC:53426 "ENST00000634842.2|NM_001364669.2" +HGNC:1241 C1QA complement C1q A chain protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "complement component 1, q subcomponent, alpha polypeptide|complement component 1, q subcomponent, A chain|complement C1q chain A" "Complement system activation components|C1q domain containing" "1638|1641" 2001-06-22 2016-07-04 2021-05-26 712 ENSG00000173372 OTTHUMG00000002893 uc001bfy.4 AF135157 NM_015991 CCDS226 P02745 1537612 MGI:88223 RGD:1306716 "C1QAbase: Mutation registry for C1qA deficiency|http://structure.bmc.lu.se/idbase/C1QAbase/index2.html|LRG_22|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_22.xml" 120550 221162 HGNC:1241 "ENST00000374642.8|NM_015991.4" HGNC:1241 +HGNC:1242 C1QB complement C1q B chain protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "complement component 1, q subcomponent, beta polypeptide|complement component 1, q subcomponent, B chain|complement C1q chain B" "Complement system activation components|C1q domain containing" "1638|1641" 2001-06-22 2016-07-04 2021-05-26 713 ENSG00000173369 OTTHUMG00000002896 uc001bgd.3 X03084 NM_000491 CCDS228 P02746 1537612 MGI:88224 RGD:2229 "C1QBbase: Mutation registry for C1qB deficiency|http://structure.bmc.lu.se/idbase/C1QBbase/|LRG_23|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_23.xml" 120570 221166 HGNC:1242 "ENST00000509305.6|NM_001378156.1" HGNC:1242 +HGNC:1243 C1QBP complement C1q binding protein protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "gC1Q-R|gC1qR|p32|SF2p32" "C1q globular domain-binding protein|hyaluronan-binding protein 1|splicing factor SF2-associated protein" HABP1 complement component 1, q subcomponent binding protein 1995-12-11 2016-07-04 2021-05-26 708 ENSG00000108561 OTTHUMG00000177875 uc002gby.2 X75913 NM_001212 CCDS11071 Q07021 "8567680|8195709" MGI:1194505 RGD:2230 601269 HGNC:1243 "ENST00000225698.8|NM_001212.4" HGNC:1243 +HGNC:1244 C1QBPP1 complement C1q binding protein pseudogene 1 pseudogene pseudogene Approved 21q21.1 21q21.1 C1QBPP "complement component 1, q subcomponent binding protein, pseudogene|complement component 1, q subcomponent binding protein, pseudogene 1" 2000-05-23 2015-03-25 2016-07-04 2016-07-04 54098 ENSG00000215353 OTTHUMG00000074605 NG_000929 PGOHUM00000297228 HGNC:1244 +HGNC:51618 C1QBPP2 complement C1q binding protein pseudogene 2 pseudogene pseudogene Approved 11q13.2 11q13.2 complement component 1, q subcomponent binding protein, pseudogene 2 2015-03-26 2016-07-04 2016-07-04 100422299 ENSG00000213409 OTTHUMG00000167165 NG_024376 PGOHUM00000290562 HGNC:51618 +HGNC:51619 C1QBPP3 complement C1q binding protein pseudogene 3 pseudogene pseudogene Approved 15q14 15q14 complement component 1, q subcomponent binding protein, pseudogene 3 2015-03-26 2016-07-04 2016-07-04 100422310 NG_025373 PGOHUM00000293198 HGNC:51619 +HGNC:1245 C1QC complement C1q C chain protein-coding gene gene with protein product Approved 1p36.12 01p36.12 C1QG "complement component 1, q subcomponent, gamma polypeptide|complement component 1, q subcomponent, C chain" "Complement system activation components|C1q domain containing" "1638|1641" 1991-09-12 2006-02-09 2016-07-04 2021-05-26 714 ENSG00000159189 OTTHUMG00000002891 uc001bgc.5 AK057792 NM_172369 CCDS227 P02747 1706597 MGI:88225 RGD:1306828 "C1QCbase: Mutation registry for C1qC deficiency|http://structure.bmc.lu.se/idbase/C1QCbase/|LRG_24|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_24.xml" 120575 221168 HGNC:1245 "ENST00000374640.9|NM_172369.5" HGNC:1245 +HGNC:24182 C1QL1 complement C1q like 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CRF|C1QRF|C1QTNF14|CTRP14" complement component 1, q subcomponent-like 1 C1q and TNF related 1372 2004-05-06 2016-07-04 2018-07-16 10882 ENSG00000131094 OTTHUMG00000162944 uc002ihv.4 AF410771 NM_006688 CCDS11492 O75973 9878755 MGI:1344400 RGD:1306039 611586 HGNC:24182 "ENST00000253407.4|NM_006688.5" +HGNC:51809 C1QL1P1 complement C1q like 1 pseudogene 1 pseudogene pseudogene Approved 16p11.1 16p11.1 complement component 1, q subcomponent-like 1 pseudogene 1 2015-06-09 2016-07-04 2016-07-04 106480353 ENSG00000260134 OTTHUMG00000176017 NG_044683 HGNC:51809 +HGNC:24181 C1QL2 complement C1q like 2 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "CTRP10|C1QTNF10" C1q and tumor necrosis factor related protein 10 complement component 1, q subcomponent-like 2 C1q and TNF related 1372 2004-05-18 2016-07-04 2016-07-04 165257 ENSG00000144119 OTTHUMG00000153271 uc002tlo.3 AF525315 NM_182528 CCDS42737 Q7Z5L3 18783346 MGI:3032521 RGD:1594583 614330 HGNC:24181 "ENST00000272520.4|NM_182528.4" +HGNC:19359 C1QL3 complement C1q like 3 protein-coding gene gene with protein product Approved 10p13 10p13 "K100|C1ql|C1QTNF13|CTRP13" complement component 1, q subcomponent-like 3 C1q and TNF related 1372 2004-05-19 2016-07-04 2018-11-15 389941 ENSG00000165985 OTTHUMG00000017738 uc001ioj.1 NM_001010908 CCDS31156 Q5VWW1 21378161 MGI:2387350 RGD:1591795 615227 HGNC:19359 "ENST00000298943.4|NM_001010908.2" +HGNC:31416 C1QL4 complement C1q like 4 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "C1QTNF11|CTRP11" complement component 1, q subcomponent like 4 C1q and TNF related 1372 2005-03-22 2016-07-04 2016-07-04 338761 ENSG00000186897 OTTHUMG00000169515 uc001rtz.2 NM_001008223 CCDS31793 Q86Z23 MGI:3579909 RGD:1565968 615229 HGNC:31416 "ENST00000334221.5|NM_001008223.2" +HGNC:14324 C1QTNF1 C1q and TNF related 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "CTRP1|ZSIG37|GIP|FLJ90694" G protein coupled receptor interacting protein C1q and tumor necrosis factor related protein 1 C1q and TNF related 1372 2001-10-02 2017-03-01 2017-03-01 114897 ENSG00000173918 OTTHUMG00000177533 uc031rep.2 AF329840 NM_030968 "CCDS11761|CCDS11762" Q9BXJ1 12409230 MGI:1919254 RGD:1359204 610365 HGNC:14324 "ENST00000579760.6|NM_030968.5" +HGNC:44351 C1QTNF1-AS1 C1QTNF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Antisense RNAs 1987 2013-05-21 2016-09-26 100507410 ENSG00000265096 OTTHUMG00000132159 NR_040018 C1QTNF1-AS1 HGNC:44351 +HGNC:14325 C1QTNF2 C1q and TNF related 2 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 CTRP2 C1q and tumor necrosis factor related protein 2 C1q and TNF related 1372 2001-10-02 2017-03-01 2017-03-01 114898 ENSG00000145861 OTTHUMG00000130323 uc003lyd.4 AF329836 NM_001366504 CCDS4351 Q9BXJ5 MGI:1916433 RGD:1561041 618647 HGNC:14325 "ENST00000652664.2|NM_031908.6" +HGNC:14326 C1QTNF3 C1q and TNF related 3 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "CTRP3|Cors|Corcs|2310005P21Rik|Cors-26" cartonectin C1q and tumor necrosis factor related protein 3 C1q and TNF related 1372 2001-10-02 2017-03-01 2017-03-01 114899 ENSG00000082196 OTTHUMG00000090735 uc003jin.4 AF329837 NM_030945 "CCDS3904|CCDS34141" Q9BXJ4 18421280 MGI:1932136 RGD:1305010 612045 HGNC:14326 "ENST00000382065.8|NM_181435.6" +HGNC:49198 C1QTNF3-AMACR C1QTNF3-AMACR readthrough (NMD candidate) other readthrough Approved 5p13.2 05p13.2 2013-09-30 2016-11-09 100534612 ENSG00000273294 OTTHUMG00000186337 NR_037951 HGNC:49198 +HGNC:14346 C1QTNF4 C1q and TNF related 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "CTRP4|ZACRP4" complement-c1q tumor necrosis factor-related protein 4 C1q and tumor necrosis factor related protein 4 C1q and TNF related 1372 2001-10-02 2017-03-01 2017-03-01 114900 ENSG00000172247 OTTHUMG00000166895 uc001ngc.3 AF329838 NM_031909 CCDS7942 Q9BXJ3 16094384 MGI:1914695 RGD:1311006 614911 HGNC:14346 "ENST00000302514.4|NM_031909.3" +HGNC:14344 C1QTNF5 C1q and TNF related 5 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "CTRP5|DKFZp586B0621|LORD" "complement-c1q tumor necrosis factor-related protein 5|myonectin" C1q and tumor necrosis factor related protein 5 C1q and TNF related 1372 2001-10-02 2017-03-01 2017-03-01 114902 ENSG00000223953 OTTHUMG00000166198 uc058iiv.2 AF329841 NM_015645 CCDS8420 Q9BXJ0 12944416 MGI:2385958 RGD:1308802 608752 138575 HGNC:14344 "ENST00000528368.3|NM_001278431.2" HGNC:14344 +HGNC:14343 C1QTNF6 C1q and TNF related 6 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "CTRP6|ZACRP6" C1q and tumor necrosis factor related protein 6 C1q and TNF related 1372 2001-10-02 2017-03-01 2017-03-01 114904 ENSG00000133466 OTTHUMG00000150538 uc003aqy.2 AF329842 NM_182486 CCDS13943 Q9BXI9 12975309 MGI:1919959 RGD:1307057 614910 HGNC:14343 "ENST00000337843.7|NM_031910.4" +HGNC:14342 C1QTNF7 C1q and TNF related 7 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 CTRP7 C1q and tumor necrosis factor related protein 7 C1q and TNF related 1372 2001-10-02 2017-03-01 2017-03-01 114905 ENSG00000163145 OTTHUMG00000097095 uc062vgs.1 AF329839 NM_001135170 "CCDS3414|CCDS47025" Q9BXJ2 MGI:1925911 RGD:1306978 HGNC:14342 "ENST00000444304.3|NM_031911.5" +HGNC:40683 C1QTNF7-AS1 C1QTNF7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p15.32 04p15.32 Antisense RNAs 1987 2019-07-24 2019-07-24 101929095 ENSG00000249252 OTTHUMG00000160132 NR_125911 HGNC:40683 +HGNC:31374 C1QTNF8 C1q and TNF related 8 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "UNQ5829|CTRP8" C1q and tumor necrosis factor related protein 8 C1q and TNF related 1372 2004-03-17 2017-03-01 2017-03-01 390664 ENSG00000184471 OTTHUMG00000167756 uc010uuw.2 AY358832 NM_207419 CCDS32358 P60827 12975309 614147 HGNC:31374 "ENST00000328449.6|NM_207419.3" +HGNC:28732 C1QTNF9 C1q and TNF related 9 protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "MGC48915|CTRP9|C1QTNF9A|AQL1" C1q and tumor necrosis factor related protein 9 C1q and TNF related 1372 2006-04-20 2017-03-01 2017-03-01 338872 ENSG00000240654 OTTHUMG00000016576 uc058vxt.1 BC040438 NM_178540 CCDS9306 P0C862 "12975309|18787108" MGI:3045252 RGD:1560876 614285 HGNC:28732 +HGNC:39906 C1QTNF9-AS1 C1QTNF9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 C1QTNF9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874232 ENSG00000240868 OTTHUMG00000016579 uc058vxu.1 C1QTNF9-AS1 +HGNC:34072 C1QTNF9B C1q and TNF related 9B protein-coding gene gene with protein product Approved 13q12.12 13q12.12 CTRP9B C1q and tumor necrosis factor related protein 9B C1q and TNF related 1372 2011-05-08 2017-03-01 2017-03-01 387911 ENSG00000205863 OTTHUMG00000016570 uc058vxi.1 BC110413 NM_001007537 CCDS31947 B2RNN3 17544811 MGI:3045252 614148 HGNC:34072 +HGNC:32308 C1QTNF12 C1q and TNF related 12 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "MGC105127|CTRP12|ADIPOLIN" "adipolin|adipose-derived insulin-sensitizing factor" "C1QDC2|FAM132A" "C1q domain containing 2|family with sequence similarity 132, member A|family with sequence similarity 132 member A|C1q and tumor necrosis factor related protein 12" C1q and TNF related 1372 2005-09-27 2017-01-18 2017-03-01 2018-11-15 388581 ENSG00000184163 OTTHUMG00000001412 uc001adl.3 BC089443 NM_001014980 CCDS30554 Q5T7M4 21849507 MGI:1914639 RGD:1307059 616593 HGNC:32308 "ENST00000330388.2|NM_001014980.3" +HGNC:1246 C1R complement C1r protein-coding gene gene with protein product Approved 12p13.31 12p13.31 complement component 1, r subcomponent "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2021-05-26 715 ENSG00000159403 OTTHUMG00000168149 uc031ysf.2 M14058 NM_001733 "CCDS86272|CCDS81658" P00736 "MGI:1355313|MGI:3779804" RGD:1309091 LRG_1321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1321.xml 613785 360362 S01.192 objectId:2334 3.4.21.41 HGNC:1246 "ENST00000647956.2|NM_001733.7" HGNC:1246 +HGNC:21265 C1RL complement C1r subcomponent like protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "C1r-LP|C1RL1" complement component 1, r subcomponent-like Sushi domain containing 1179 2003-09-03 2016-03-08 2019-08-20 51279 ENSG00000139178 OTTHUMG00000168144 uc001qsn.4 AF178985 NM_016546 "CCDS73431|CCDS8573|CCDS76517" Q9NZP8 12838346 MGI:2660692 RGD:1302936 608974 S01.189 HGNC:21265 "ENST00000266542.9|NM_016546.4" +HGNC:27461 C1RL-AS1 C1RL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 MATL2963 C1RL antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 283314 ENSG00000205885 OTTHUMG00000168164 uc001qsp.3 AL833364 NR_026947 C1RL-AS1 HGNC:27461 +HGNC:1247 C1S complement C1s protein-coding gene gene with protein product Approved 12p13.31 12p13.31 complement component 1, s subcomponent "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2021-05-26 716 ENSG00000182326 OTTHUMG00000150305 uc001qsj.4 NM_001734 "CCDS31735|CCDS86271" P09871 "MGI:1355312|MGI:3644269" RGD:619983 "C1Sbase: Mutation registry for C1s deficiency|http://structure.bmc.lu.se/idbase/C1Sbase/index2.html|LRG_25|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_25.xml" 120580 221171 S01.193 objectId:2335 3.4.21.42 HGNC:1247 "ENST00000360817.10|NM_001734.5" HGNC:1247 +HGNC:1248 C2 complement C2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 complement component 2 "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2021-04-13 717 ENSG00000166278 OTTHUMG00000031190 uc003nyf.5 NM_000063 "CCDS54991|CCDS75427|CCDS4728|CCDS75428|CCDS56416" P06681 MGI:88226 RGD:2231 "C2base: Mutation registry for C2 deficiency|http://structure.bmc.lu.se/idbase/C2base/index2.html|LRG_26|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_26.xml" 613927 119106 S01.194 HGNC:1248 "ENST00000299367.10|NM_000063.6" +HGNC:49464 C2-AS1 C2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 Antisense RNAs 1987 2013-12-06 2016-10-05 102060414 ENSG00000281756 OTTHUMG00000189556 BX100594 NR_104191 C2-AS1 HGNC:49464 +HGNC:1266 C2CD2 C2 calcium dependent domain containing 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "TMEM24L|DKFZP586F0422|C21orf258" TMEM24-like C21orf25 chromosome 21 open reading frame 25 C2 domain containing 823 2000-05-23 2007-10-17 2016-06-08 2020-09-17 25966 ENSG00000157617 OTTHUMG00000086779 uc002yzv.4 AB047784 NM_015500 "CCDS42933|CCDS13677" Q9Y426 15289880 MGI:1891883 RGD:735112 617581 HGNC:1266 "ENST00000380486.4|NM_015500.2" +HGNC:29000 C2CD2L C2CD2 like protein-coding gene gene with protein product Approved 11q23.3 11q23.3 KIAA0285 TMEM24 transmembrane protein 24 2004-04-06 2008-04-22 2016-01-19 2020-08-10 9854 ENSG00000172375 OTTHUMG00000166167 uc001pvn.4 AK025223 NM_014807 CCDS8413 O14523 "15289880|28209843|30819882" MGI:1919014 RGD:1310281 617582 HGNC:29000 "ENST00000648610.2|NM_001290474.2" +HGNC:24564 C2CD3 C2 domain containing 3 centriole elongation regulator protein-coding gene gene with protein product Approved 11q13.4 11q13.4 DKFZP586P0123 C2 calcium dependent domain containing 3 C2 domain containing 823 2007-10-17 2019-06-12 2021-05-26 26005 ENSG00000168014 OTTHUMG00000168110 uc001ouu.4 BC035599 NM_015531 "CCDS31636|CCDS66167" Q4AC94 MGI:2142166 RGD:1307366 615944 434225 HGNC:24564 "ENST00000334126.12|NM_001286577.2" HGNC:24564 +HGNC:33627 C2CD4A C2 calcium dependent domain containing 4A protein-coding gene gene with protein product Approved 15q22.2 15q22.2 NLF1 nuclear localized factor 1 FAM148A family with sequence similarity 148, member A C2 domain containing 823 2007-10-18 2009-09-28 2016-06-08 2020-01-06 145741 ENSG00000198535 OTTHUMG00000171942 uc002ahf.4 AF504646 NM_207322 CCDS32258 Q8NCU7 MGI:3645763 RGD:1596010 610343 HGNC:33627 "ENST00000355522.5|NM_207322.3" +HGNC:33628 C2CD4B C2 calcium dependent domain containing 4B protein-coding gene gene with protein product Approved 15q22.2 15q22.2 NLF2 nuclear localized factor 2 FAM148B family with sequence similarity 148, member B C2 domain containing 823 2007-10-18 2009-09-28 2016-06-08 2020-01-06 388125 ENSG00000205502 OTTHUMG00000171959 uc002ahg.3 BM023530 NM_001007595 CCDS32259 A6NLJ0 MGI:1922947 RGD:1591932 610344 HGNC:33628 "ENST00000380392.4|NM_001007595.3" +HGNC:29417 C2CD4C C2 calcium dependent domain containing 4C protein-coding gene gene with protein product Approved 19p13.3 19p13.3 NLF3 nuclear localized factor 3 "KIAA1957|FAM148C" "KIAA1957|family with sequence similarity 148, member C" C2 domain containing 823 2004-02-12 2009-09-28 2016-06-08 2019-08-21 126567 ENSG00000183186 OTTHUMG00000180534 uc002loo.5 AB075837 NM_001136263 CCDS45890 Q8TF44 11853319 MGI:2685084 RGD:1561354 610336 HGNC:29417 "ENST00000332235.8|NM_001136263.2" +HGNC:37210 C2CD4D C2 calcium dependent domain containing 4D protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FAM148D family with sequence similarity 148, member D C2 domain containing 823 2009-09-28 2016-06-08 2016-06-08 100191040 ENSG00000225556 OTTHUMG00000167218 uc010pdq.2 BC171843 NM_001136003 CCDS44224 B7Z1M9 MGI:2685505 RGD:2324777 HGNC:37210 +HGNC:54045 C2CD4D-AS1 C2CD4D and THEM5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 Antisense RNAs 1987 2018-09-26 2021-12-02 100132111 ENSG00000234614 NR_152846 34850664 HGNC:54045 +HGNC:29062 C2CD5 C2 calcium dependent domain containing 5 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 CDP138 138 kDa C2 domain-containing phosphoprotein KIAA0528 KIAA0528 C2 domain containing 823 2006-01-17 2012-12-13 2016-06-08 2016-06-08 9847 ENSG00000111731 OTTHUMG00000169100 uc001rfq.5 AB011100 NM_014802 "CCDS31758|CCDS66340|CCDS66339|CCDS66338|CCDS66337" Q86YS7 "21907143|25096995" MGI:1921991 RGD:1304592 618044 HGNC:29062 "ENST00000446597.6|NM_001286176.2" +HGNC:55961 C2CD5-AS1 C2CD5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Antisense RNAs 1987 2021-11-10 2021-11-10 105369692 ENSG00000250166 XR_001749044 +HGNC:14438 C2CD6 C2 calcium dependent domain containing 6 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ25351 ALS2CR11 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11|amyotrophic lateral sclerosis 2 chromosome region candidate 11" C2 domain containing 823 2001-01-26 2017-02-13 2017-02-13 2022-03-30 151254 ENSG00000155754 OTTHUMG00000132830 uc002uye.4 AB053313 NM_152525 "CCDS54429|CCDS2349|CCDS54428|CCDS54430" Q53TS8 "11586298|34998468" "MGI:1920713|MGI:5592748" RGD:1565450 619776 HGNC:14438 "ENST00000439140.6|NM_001168221.2" +HGNC:28436 C2orf15 chromosome 2 open reading frame 15 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 MGC29762 2004-01-09 2016-09-30 150590 ENSG00000273045 OTTHUMG00000130635 uc002szk.4 BC021264 NM_144706 CCDS2038 Q8WU43 HGNC:28436 "ENST00000650052.2|NM_144706.4" +HGNC:25275 C2orf16 chromosome 2 open reading frame 16 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 DKFZp434G118 P-S-E-R-S-H-H-S repeats containing 2004-01-09 2016-09-30 84226 ENSG00000221843 OTTHUMG00000159099 uc002rkz.5 AL136898 NM_032266 CCDS42666 Q68DN1 MGI:3045298 RGD:7513610 HGNC:25275 +HGNC:25077 C2orf27A chromosome 2 open reading frame 27A non-coding RNA RNA, long non-coding Approved 2q21.2 02q21.2 C2orf27 chromosome 2 open reading frame 27 2004-05-10 2009-04-02 2009-04-02 2020-04-24 29798 ENSG00000287151 OTTHUMG00000131666 AF038169 NR_149013 P0DPF5 "9110174|8619474" HGNC:25077 +HGNC:26056 C2orf42 chromosome 2 open reading frame 42 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 FLJ20558 2006-07-26 2016-10-05 54980 ENSG00000115998 OTTHUMG00000129642 uc002sgh.4 AK000565 NM_017880 CCDS1899 Q9NWW7 12477932 MGI:2141787 RGD:1306746 HGNC:26056 "ENST00000264434.7|NM_017880.3" +HGNC:28772 C2orf49 chromosome 2 open reading frame 49 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 "MGC5509|asw" ashwin tRNA splicing ligase complex 1345 2006-09-08 2019-08-05 79074 ENSG00000135974 OTTHUMG00000130808 uc002tcs.3 BC001310 NM_024093 "CCDS2068|CCDS74550" Q9BVC5 "16680723|24870230" MGI:2138299 RGD:1310553 HGNC:28772 "ENST00000258457.7|NM_024093.3" +HGNC:55178 C2orf49-DT C2orf49 divergent transcript non-coding RNA RNA, long non-coding Approved 2q12.2 02q12.2 Divergent transcripts 1990 2020-08-06 2020-08-06 100506473 ENSG00000272994 +HGNC:26324 C2orf50 chromosome 2 open reading frame 50 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 FLJ25143 2006-10-26 2016-09-30 130813 ENSG00000150873 OTTHUMG00000119057 uc010yjj.2 AK057872 NM_182500 CCDS1678 Q96LR7 12477932 MGI:1920917 RGD:1582838 HGNC:26324 "ENST00000381585.8|NM_001371321.1" +HGNC:33809 C2orf66 chromosome 2 open reading frame 66 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 UNQ6411 2007-12-18 2012-12-03 2012-12-03 2016-09-30 401027 ENSG00000187944 OTTHUMG00000132742 uc002utv.4 NM_213608 CCDS2317 Q6UXQ4 MGI:5593225 RGD:1586666 HGNC:33809 "ENST00000342506.4|NM_213608.3" +HGNC:34353 C2orf68 chromosome 2 open reading frame 68 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 2008-07-02 2016-09-30 388969 ENSG00000168887 OTTHUMG00000153088 uc002sqc.3 NM_001013649 CCDS42704 Q2NKX9 25023051 MGI:1915614 RGD:1587471 618519 HGNC:34353 "ENST00000306336.6|NM_001013649.4" +HGNC:26799 C2orf69 chromosome 2 open reading frame 69 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ38973 hypothetical protein FLJ38973 2008-07-02 2022-01-05 205327 ENSG00000178074 OTTHUMG00000154480 uc010zhb.2 NM_153689 CCDS46482 Q8N8R5 "33945503|34038740|34214448" MGI:1920717 RGD:1306941 619219 HGNC:26799 "ENST00000319974.6|NM_153689.6" +HGNC:51800 C2orf69P1 chromosome 2 open reading frame 69 pseudogene 1 pseudogene pseudogene Approved 16p11.1 16p11.1 2015-06-09 2015-06-09 727964 ENSG00000261046 OTTHUMG00000176015 NG_008612 PGOHUM00000293842 HGNC:51800 +HGNC:51801 C2orf69P2 chromosome 2 open reading frame 69 pseudogene 2 pseudogene pseudogene Approved 16p11.1 16p11.1 2015-06-09 2015-06-09 642614 ENSG00000260341 OTTHUMG00000176008 NG_008611 PGOHUM00000293840 HGNC:51801 +HGNC:51802 C2orf69P3 chromosome 2 open reading frame 69 pseudogene 3 pseudogene pseudogene Approved 16p11.1 16p11.1 2015-06-09 2015-06-09 100131279 ENSG00000261299 OTTHUMG00000176002 NG_008610 PGOHUM00000293838 HGNC:51802 +HGNC:51803 C2orf69P4 chromosome 2 open reading frame 69 pseudogene 4 pseudogene pseudogene Approved 16p11.1 16p11.1 2015-06-09 2015-06-09 100420859 ENSG00000260480 OTTHUMG00000176249 NG_026416 PGOHUM00000293836 HGNC:51803 +HGNC:51804 C2orf69P5 chromosome 2 open reading frame 69 pseudogene 5 pseudogene pseudogene Approved 16p11.2 16p11.2 2015-06-09 2015-06-09 107403078 NG_046796 PGOHUM00000293834 HGNC:51804 +HGNC:27418 C2orf72 chromosome 2 open reading frame 72 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 LOC257407 2008-07-07 2016-09-30 257407 ENSG00000204128 OTTHUMG00000153996 uc002vrl.5 NM_001144994 CCDS46539 A6NCS6 "8619474|9110174" MGI:1920042 RGD:2318569 HGNC:27418 "ENST00000373640.5|NM_001144994.2" +HGNC:26861 C2orf73 chromosome 2 open reading frame 73 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 FLJ40298 2008-07-07 2017-08-04 129852 ENSG00000177994 OTTHUMG00000151826 uc002rxt.1 "BC031669|AK097617" NM_001100396 CCDS46285 Q8N5S3 14702039 MGI:1922337 RGD:1562229 HGNC:26861 "ENST00000398634.7|NM_001100396.2" +HGNC:34439 C2orf74 chromosome 2 open reading frame 74 protein-coding gene gene with protein product Approved 2p15 02p15 LOC339804 2008-07-08 2016-10-24 339804 ENSG00000237651 OTTHUMG00000187090 uc010ypm.1 NM_001143959 CCDS46298 A8MZ97 MGI:1914608 RGD:1597336 HGNC:34439 "ENST00000432605.3|NM_001143959.4" +HGNC:27941 C2orf74-DT C2orf74 divergent transcript non-coding RNA RNA, long non-coding Approved 2p15 02p15 Divergent transcripts 1990 2021-10-08 2021-10-08 339803 ENSG00000212978 OTTHUMG00000152156 NR_036496 +HGNC:27017 C2orf76 chromosome 2 open reading frame 76 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "MGC104437|LOC130355|AIM29" 2008-07-10 2016-09-30 130355 ENSG00000186132 OTTHUMG00000153298 uc002tlu.3 NM_001017927 CCDS42739 Q3KRA6 12477932 MGI:1920353 RGD:1594584 HGNC:27017 "ENST00000334816.12|NM_001322331.2" +HGNC:34349 C2orf78 chromosome 2 open reading frame 78 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "FLJ43987|hCG1989538|COG5373" 2008-07-18 2019-12-04 388960 ENSG00000187833 OTTHUMG00000152819 uc002sjr.1 "AC092653|AC136006|AK125975" NM_001080474 CCDS46338 A6NCI8 "MGI:3647631|MGI:3648691|MGI:3648692|MGI:3649090" RGD:1582830 HGNC:34349 +HGNC:34352 C2orf80 chromosome 2 open reading frame 80 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "LOC389073|GONDA1" gonad development associated 1 2008-07-18 2018-02-01 389073 ENSG00000188674 OTTHUMG00000154751 uc002vcr.4 "AC016697|AW136505|BC035737" NM_001099334 CCDS42809 Q0P641 "22080834|24055526|25681390" MGI:2138198 615536 HGNC:34352 "ENST00000341287.9|NM_001099334.3" +HGNC:34350 C2orf81 chromosome 2 open reading frame 81 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "LOC388963|hCG40743" 2008-07-18 2017-05-11 388963 ENSG00000284308 OTTHUMG00000164184 uc010yrq.2 "AC005041|CH471053" NM_001145054 CCDS86853 A6NN90 15815621 MGI:1919087 RGD:1566019 HGNC:34350 "ENST00000684111.1|NM_001316764.3" +HGNC:25344 C2orf83 chromosome 2 open reading frame 83 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 DKFZp547H025 2008-09-16 2018-03-19 56918 ENSG00000042304 OTTHUMG00000153550 uc002vph.4 NM_020161 "CCDS33388|CCDS54434" Q53S99 HGNC:25344 +HGNC:28191 C2orf88 chromosome 2 open reading frame 88 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "MGC13057|smAKAP" small membrane AKAP A-kinase anchoring proteins 396 2009-04-08 2009-04-08 2018-04-19 84281 ENSG00000187699 OTTHUMG00000154361 uc002urq.4 BC005083 NM_032321 CCDS42792 Q9BSF0 "23996002|27028580" MGI:1914330 RGD:1596493 615117 HGNC:28191 "ENST00000340623.4|NM_001042519.2" +HGNC:49272 C2orf92 chromosome 2 open reading frame 92 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 LINC01125 long intergenic non-protein coding RNA 1125 2013-10-15 2017-08-16 2017-08-16 2019-12-04 728537 ENSG00000228486 OTTHUMG00000153062 NM_001351368 CCDS86862 A0A1B0GVN3 MGI:1918416 LINC01125 HGNC:49272 "ENST00000627399.4|NM_001351368.2" +HGNC:1318 C3 complement C3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CPAMD1|ARMD9|C3a|C3b" "C3a anaphylatoxin|complement component C3a|complement component C3b|prepro-C3" complement component 3 "Receptor ligands|C3 and PZP like, alpha-2-macroglobulin domain containing|Complement system activation components" "542|1234|1638" 2001-06-22 2016-08-10 2021-04-13 718 ENSG00000125730 OTTHUMG00000150335 uc002mfm.4 J04763 NM_000064 CCDS32883 P01024 MGI:88227 RGD:2232 "C3base: Mutation registry for C3 deficiency|http://structure.bmc.lu.se/idbase/C3base/index2.html|LRG_27|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_27.xml" 120700 160064 I39.950 ligandId:9414 3.4.21.43 HGNC:1318 "ENST00000245907.11|NM_000064.4" HGNC:1318 +HGNC:1319 C3AR1 complement C3a receptor 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "C3AR|AZ3B" complement component 3a receptor 1 "Complement component GPCRs|Complement system regulators and receptors" "196|1639" 1997-05-22 2016-08-10 2020-09-17 719 ENSG00000171860 OTTHUMG00000168569 uc001qtv.2 U28488 NM_004054 CCDS8588 Q16581 8605247 MGI:1097680 RGD:620537 605246 objectId:31 HGNC:1319 "ENST00000307637.5|NM_004054.4" +HGNC:1320 C3CER1 chromosome 3 common eliminated region 1 other region Approved 3p22-p21.2 03p22-p21.2 CER1 1999-08-05 2019-10-10 23739 "9408748|10610706|11896456" +HGNC:25024 C3orf14 chromosome 3 open reading frame 14 protein-coding gene gene with protein product Approved 3p14.2 03p14.2 HT021 2004-07-12 2018-11-12 57415 ENSG00000114405 OTTHUMG00000158704 uc010hnq.4 AF236158 NM_020685 CCDS2896 Q9HBI5 21156036 MGI:1917937 RGD:1306063 HGNC:25024 "ENST00000462069.6|NM_001291941.3" +HGNC:24837 C3orf18 chromosome 3 open reading frame 18 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 G20 2005-01-10 2016-10-05 51161 ENSG00000088543 OTTHUMG00000156854 uc003dat.4 AF188706 NM_016210 "CCDS54589|CCDS2829" Q9UK00 12477932 MGI:2445137 RGD:1307461 HGNC:24837 "ENST00000357203.8|NM_016210.5" +HGNC:25320 C3orf20 chromosome 3 open reading frame 20 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 DKFZP434N1817 2005-01-19 2022-03-21 84077 ENSG00000131379 OTTHUMG00000155545 uc003byy.4 AL136781 NM_032137 "CCDS54555|CCDS33706" Q8ND61 11230166 MGI:2685917 RGD:1560289 HGNC:25320 "ENST00000253697.8|NM_032137.5" HGNC:25320 +HGNC:28534 C3orf22 chromosome 3 open reading frame 22 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 MGC34728 2005-04-08 2016-09-30 152065 ENSG00000180697 OTTHUMG00000162731 uc003ejb.4 NM_152533 CCDS3040 Q8N5N4 12477932 MGI:2679261 RGD:1587811 HGNC:28534 "ENST00000318225.3|NM_152533.3" +HGNC:26434 C3orf33 chromosome 3 open reading frame 33 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "FLJ31139|AC3-33" 2006-01-02 2016-09-30 285315 ENSG00000174928 OTTHUMG00000158496 uc062pfq.1 AF115515 NM_173657 "CCDS54659|CCDS77843" Q6P1S2 "20680465|26137149" MGI:3607716 RGD:1565059 619654 HGNC:26434 "ENST00000340171.7|NM_001308229.2" +HGNC:26170 C3orf36 chromosome 3 putative open reading frame 36 other unknown Approved 3q22.1 03q22.1 FLJ22173 chromosome 3 open reading frame 36 2006-01-02 2020-08-07 2021-02-11 80111 ENSG00000288547 OTTHUMG00000187161 uc003epz.2 AK025826 NR_161373 Q3SXR2 12477932 HGNC:26170 +HGNC:28384 C3orf38 chromosome 3 open reading frame 38 protein-coding gene gene with protein product Approved 3p11.1 03p11.1 MGC26717 dense incisors 2006-01-05 2022-01-10 285237 ENSG00000179021 OTTHUMG00000155752 uc003dqw.4 AL832398 NM_173824 CCDS2921 Q5JPI3 17464193 MGI:1914859 RGD:1359320 HGNC:28384 "ENST00000318887.8|NM_173824.4" +HGNC:25190 C3orf49 chromosome 3 open reading frame 49 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 2006-01-16 2019-12-04 132200 ENSG00000163632 OTTHUMG00000158761 uc003dls.5 BC015210 NM_001355236 CCDS87102 Q96BT1 12477932 MGI:3779338 RGD:7634115 HGNC:25190 "ENST00000295896.13|NM_001355236.2" +HGNC:55036 C3orf49P1 C3orf49 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-06-03 2020-06-03 117981798 ENSG00000226119 NG_070713 +HGNC:26255 C3orf52 chromosome 3 open reading frame 52 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "FLJ23186|TTMP" TPA induced trans-membrane protein MicroRNA protein coding host genes 1691 2006-01-30 2020-05-21 79669 ENSG00000114529 OTTHUMG00000159230 uc003dyq.5 AY830714 NM_024616 "CCDS54620|CCDS46887" Q5BVD1 "15737651|32336749" MGI:2384848 RGD:1591333 611956 HGNC:26255 "ENST00000264848.10|NM_024616.3" +HGNC:32481 C3orf56 chromosome 3 open reading frame 56 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 FLJ40141 2006-02-01 2017-01-27 285311 ENSG00000214324 OTTHUMG00000159593 uc062nlo.1 AK097460 NM_001007534 Q8N813 14702039 "MGI:1919229|MGI:3588253|MGI:3645743|MGI:3645937" HGNC:32481 "ENST00000624688.2|NM_001007534.2" +HGNC:24771 C3orf62 chromosome 3 open reading frame 62 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ43654|MAPS" male pachynema-specific protein 2006-02-09 2022-02-04 375341 ENSG00000188315 OTTHUMG00000156819 uc003cwn.3 AK125642 NM_198562 CCDS2792 Q6ZUJ4 "31930642|33064489|33602822|35016035" MGI:2148248 RGD:1589651 HGNC:24771 "ENST00000343010.8|NM_198562.3" +HGNC:33731 C3orf70 chromosome 3 open reading frame 70 protein-coding gene gene with protein product Approved 3q27.2 03q27.2 2008-06-13 2019-11-01 285382 ENSG00000187068 OTTHUMG00000156696 uc003fpd.3 NM_001025266 CCDS33900 A6NLC5 31623237 MGI:1919440 RGD:1562339 HGNC:33731 "ENST00000335012.3|NM_001025266.3" +HGNC:40048 C3orf80 chromosome 3 open reading frame 80 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 2011-08-15 2018-10-12 401097 ENSG00000180044 OTTHUMG00000158950 uc021xgp.2 NM_001168214 CCDS54667 F5H4A9 MGI:1915975 RGD:2318708 HGNC:40048 "ENST00000326474.5|NM_001168214.2" +HGNC:44666 C3orf84 chromosome 3 open reading frame 84 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 2013-06-21 2016-09-30 646498 ENSG00000236980 OTTHUMG00000156816 NM_001080528 CCDS58831 H3BNL1 MGI:3618861 RGD:1596842 HGNC:44666 "ENST00000545770.7|NM_001080528.3" +HGNC:53432 C3orf85 chromosome 3 open reading frame 85 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 FLJ22763 2017-05-31 2020-07-28 401081 ENSG00000241224 OTTHUMG00000159205 NM_001351622 CCDS87119 A0A1B0GTC6 MGI:3647875 HGNC:53432 "ENST00000622536.6|NM_001351622.2" +HGNC:44570 C3orf86 chromosome 3 putative open reading frame 86 other unknown Approved 3p21.31 03p21.31 LINC00694 "long intergenic non-protein coding RNA 694|chromosome 3 open reading frame 86" 2012-11-16 2018-05-16 2020-08-07 2021-09-02 102724231 ENSG00000225873 OTTHUMG00000156179 uc284pty.1 NM_001351479 P0DN24 MGI:5594708 HGNC:44570 +HGNC:34414 C3P1 complement component 3 precursor pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 CPLP 2009-04-08 2014-11-19 388503 ENSG00000167798 OTTHUMG00000158555 AK131489 NR_027300 Q6ZMU1 HGNC:34414 +HGNC:1323 C4A complement C4A (Rodgers blood group) protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "CPAMD2|C4S|CO4|C4|C4A3|C4A2|C4A4|C4A6|C4B|RG" "complement component 4A|complement component 4A (Rodgers blood group)" "Blood group antigens|C3 and PZP like, alpha-2-macroglobulin domain containing|Complement system activation components" "454|1234|1638" 2001-06-22 2016-08-10 2021-04-13 720 ENSG00000244731 OTTHUMG00000031186 uc011iuc.3 "L26261|M14823|X77491|AY224378" NM_007293 "CCDS59005|CCDS47404" P0C0L4 "MGI:88228|MGI:98320" RGD:620005 LRG_137|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_137.xml 120810 160067 I39.951 ligandId:6547 HGNC:1323 "ENST00000428956.7|NM_007293.3" HGNC:1323 +HGNC:39753 C4A-AS1 C4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 C4A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-21 2012-08-15 2012-10-12 106478955 ENSG00000233627 OTTHUMG00000137496 uc063xxy.1 C4A-AS1 +HGNC:1324 C4B complement C4B (Chido blood group) protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "CPAMD3|C4F|CO4|C4B1|C4B3|CH" "complement component 4B|complement component 4B (Chido blood group)" "Blood group antigens|C3 and PZP like, alpha-2-macroglobulin domain containing|Complement system activation components" "454|1234|1638" 2001-06-22 2016-08-10 2021-04-13 721 ENSG00000224389 OTTHUMG00000031187 uc011dpd.3 AF019413 NM_001002029 CCDS47405 P0C0L5 "MGI:88228|MGI:98320" RGD:1591983 LRG_138|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_138.xml 120820 160082 HGNC:1324 "ENST00000435363.7|NM_001002029.4" HGNC:1324 +HGNC:42398 C4B_2 complement component 4B (Chido blood group), copy 2 protein-coding gene gene with protein product Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus 2013-01-18 2020-05-15 100293534 ENSG00000233312 OTTHUMG00000188967 uc011jpd.3 GL000256 NM_001242823 P0C0L5 19505723 MGI:88228 +HGNC:39752 C4B-AS1 C4B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 C4B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-21 2012-08-15 2012-10-12 106480730 ENSG00000229776 OTTHUMG00000137467 uc032yon.2 C4B-AS1 +HGNC:1325 C4BPA complement component 4 binding protein alpha protein-coding gene gene with protein product Approved 1q32.2 01q32.2 C4BP complement component 4-binding protein, alpha "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1986-01-01 2016-02-29 2021-04-13 722 ENSG00000123838 OTTHUMG00000036173 uc001hfo.3 M31452 NM_000715 CCDS1477 P04003 "MGI:88229|MGI:104965" RGD:2235 LRG_547|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_547.xml 120830 HGNC:1325 "ENST00000367070.8|NM_000715.4" +HGNC:1326 C4BPAP1 C4BPA pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 C4BPAL1 "complement component 4-binding protein, alpha-like 1|complement component 4 binding protein, alpha pseudogene 1" 1991-09-12 2010-10-11 2019-01-18 2019-01-18 727859 ENSG00000224462 OTTHUMG00000036251 NG_006475 2352933 PGOHUM00000296745 HGNC:1326 +HGNC:1327 C4BPAP2 C4BPA pseudogene 2 pseudogene pseudogene Approved 1q32.2 01q32.2 C4BPAL2 "complement component 4-binding protein, alpha-like 2|complement component 4 binding protein, alpha-like 2|complement component 4 binding protein, alpha pseudogene 2" 1995-08-29 2010-10-11 2019-01-18 2019-01-18 724 ENSG00000232621 OTTHUMG00000036252 X81360 NG_002761 7806286 PGOHUM00000245186 HGNC:1327 +HGNC:51640 C4BPAP3 C4BPA pseudogene 3 pseudogene pseudogene Approved 1q32.2 01q32.2 complement component 4 binding protein, alpha pseudogene 3 2015-04-08 2019-01-18 2019-01-18 100421610 NG_027197 PGOHUM00000296746 HGNC:51640 +HGNC:1328 C4BPB complement component 4 binding protein beta protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "complement component 4 binding protein, beta chain|C4b binding protein, beta chain" C4BP complement component 4-binding protein, beta "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1990-06-13 2016-02-29 2021-04-13 725 ENSG00000123843 OTTHUMG00000036035 uc057oyu.1 L11245 NM_000716 "CCDS31005|CCDS1476" P20851 "2300577|8325877" RGD:2236 LRG_603|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_603.xml 120831 HGNC:1328 "ENST00000367078.8|NM_001017365.3" +HGNC:19225 C4orf3 chromosome 4 open reading frame 3 protein-coding gene gene with protein product Approved 4q26 04q26 "HCVFTP1|ALN" "HCV F-transactivated protein 1|another-regulin" 2008-12-09 2019-12-18 401152 ENSG00000164096 OTTHUMG00000161333 uc021xrf.1 NM_001001701 "CCDS43266|CCDS54798" Q8WVX3 27923914 MGI:1914954 RGD:1594660 HGNC:19225 "ENST00000504110.2|NM_001001701.4" +HGNC:25274 C4orf17 chromosome 4 open reading frame 17 protein-coding gene gene with protein product Approved 4q23 04q23 DKFZP434G072 2004-11-26 2018-12-06 84103 ENSG00000138813 OTTHUMG00000131027 uc003huw.3 AL136838 NM_032149 CCDS3649 Q53FE4 "11230166|18336583" MGI:1914991 RGD:1309170 HGNC:25274 "ENST00000326581.9|NM_032149.3" +HGNC:25618 C4orf19 chromosome 4 open reading frame 19 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ11017 2006-03-24 2016-09-30 55286 ENSG00000154274 OTTHUMG00000128580 uc003gsw.5 BC037906 NM_018302 CCDS3442 Q8IY42 12477932 MGI:1923511 RGD:1561612 HGNC:25618 "ENST00000381980.9|NM_001104629.2" +HGNC:27025 C4orf33 chromosome 4 open reading frame 33 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 FLJ33703 2006-08-18 2016-09-30 132321 ENSG00000151470 OTTHUMG00000133347 uc003igu.5 AK091022 NM_173487 CCDS3741 Q8N1A6 12477932 MGI:1289213 RGD:1359508 HGNC:27025 "ENST00000425929.6|NM_001099783.2" +HGNC:28386 C4orf36 chromosome 4 open reading frame 36 protein-coding gene gene with protein product Approved 4q21.3 04q21.3 MGC26744 2006-09-11 2016-09-30 132989 ENSG00000163633 OTTHUMG00000130597 uc062xzo.1 BC016746 NM_144645 CCDS3615 Q96KX1 12477932 MGI:1921468 RGD:1564576 HGNC:28386 "ENST00000295898.8|NM_144645.4" +HGNC:26342 C4orf45 chromosome 4 open reading frame 45 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 FLJ25371 2008-07-14 2016-09-30 152940 ENSG00000164123 OTTHUMG00000161988 uc003iqf.2 NM_152543 CCDS47156 Q96LM5 MGI:4936993 RGD:1566255 HGNC:26342 "ENST00000434826.3|NM_152543.3" +HGNC:27320 C4orf46 chromosome 4 open reading frame 46 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "LOC201725|RCDG1" renal cancer differentiation gene 1 2008-07-14 2021-09-29 201725 ENSG00000205208 OTTHUMG00000161919 uc003iqa.4 NM_001008393 CCDS34088 Q504U0 "25059753|34076717" MGI:1923189 RGD:1560010 616210 HGNC:27320 "ENST00000379205.5|NM_001008393.4" +HGNC:55882 C4orf46P1 C4orf46 pseudogene 1 pseudogene pseudogene Approved 16p13.3 16p13.3 2021-09-29 2021-11-08 2021-11-08 100129478 ENSG00000206168 NG_029255 PGOHUM00000293682 +HGNC:55883 C4orf46P2 C4orf46 pseudogene 2 pseudogene pseudogene Approved Xq21.1 Xq21.1 2021-09-29 2021-09-29 101241901 ENSG00000248503 NG_033148 PGOHUM00000305166 +HGNC:55884 C4orf46P3 C4orf46 pseudogene 3 pseudogene pseudogene Approved 8q21.13 08q21.13 2021-09-29 2021-09-29 101241902 ENSG00000254352 NR_077236 PGOHUM00000303261 +HGNC:55885 C4orf46P4 C4orf46 pseudogene 4 pseudogene pseudogene Approved 6q24.2 06q24.2 2021-09-29 2021-09-29 100288558 NG_022374 +HGNC:34346 C4orf47 chromosome 4 open reading frame 47 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 LOC441054 2008-07-18 2022-02-28 441054 ENSG00000205129 OTTHUMG00000160458 uc003ixt.3 "AY947525|BC127739|BC141967" NM_001114357 CCDS47169 A7E2U8 25074808 MGI:1916729 RGD:1564308 HGNC:34346 "ENST00000378850.5|NM_001114357.3" +HGNC:34437 C4orf48 chromosome 4 open reading frame 48 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 2008-09-10 2016-09-30 401115 ENSG00000243449 OTTHUMG00000154503 uc003gep.4 NM_001141936 CCDS47000 Q5BLP8 21287218 MGI:2686519 RGD:1560394 614690 HGNC:34437 "ENST00000409248.10|NM_001168243.4" +HGNC:33766 C4orf50 chromosome 4 open reading frame 50 protein-coding gene gene with protein product Approved 4p16.2-p16.1 04p16.2-p16.1 FLJ46481 MicroRNA protein coding host genes 1691 2009-04-14 2018-02-13 389197 ENSG00000181215 OTTHUMG00000149971 uc062uxw.1 BC140710 NM_207405 Q6ZRC1 MGI:2685889 RGD:7596857 HGNC:33766 +HGNC:37264 C4orf51 chromosome 4 open reading frame 51 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 2009-09-09 2016-09-30 646603 ENSG00000237136 OTTHUMG00000161367 uc003ikk.4 NM_001080531 CCDS47140 C9J302 MGI:1914937 RGD:1561806 HGNC:37264 "ENST00000438731.7|NM_001080531.3" +HGNC:27741 C4orf54 chromosome 4 open reading frame 54 protein-coding gene gene with protein product Approved 4q23 04q23 "FOPV|LOC285556" familial obliterative portal venopathy 2018-02-16 2018-03-02 285556 ENSG00000248713 OTTHUMG00000161583 NM_001354435 CCDS87246 D6RIA3 28792652 MGI:1915066 RGD:7695964 617881 HGNC:27741 "ENST00000511828.2|NM_001354435.2" +HGNC:1331 C5 complement C5 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "CPAMD4|C5a|C5b" "prepro-C5|C5a anaphylatoxin" complement component 5 "Receptor ligands|C3 and PZP like, alpha-2-macroglobulin domain containing|Complement system activation components" "542|1234|1638" 2001-06-22 2016-08-10 2021-04-13 727 ENSG00000106804 OTTHUMG00000020579 uc004bkv.4 M57729 NM_001735 CCDS6826 P01031 MGI:96031 RGD:2237 "C5base: Mutation registry for C5 deficiency|http://structure.bmc.lu.se/idbase/C5base/index2.html|LRG_28|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_28.xml" 120900 160093 I39.952 ligandId:573 HGNC:1331 "ENST00000223642.3|NM_001735.3" +HGNC:53618 C5-OT1 C5 3' UTR overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 9q33.2 09q33.2 C5T1lncRNA Overlapping transcripts 1988 2017-08-03 2019-01-09 2019-01-09 110599590 NR_148450 26673966 HGNC:53618 +HGNC:1338 C5AR1 complement C5a receptor 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "C5A|C5AR|CD88" C5R1 "complement component 5 receptor 1 (C5a ligand)|complement component 5a receptor 1" "Complement component GPCRs|CD molecules|Complement system regulators and receptors" "196|471|1639" 1991-12-04 2006-02-09 2016-08-10 2020-09-17 728 ENSG00000197405 OTTHUMG00000183504 uc002pgj.2 NM_001736 CCDS33063 P21730 1612600 MGI:88232 RGD:70553 113995 objectId:32 CD88 HGNC:1338 "ENST00000355085.4|NM_001736.4" +HGNC:4527 C5AR2 complement C5a receptor 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 C5L2 GPR77 "G protein-coupled receptor 77|complement component 5a receptor 2" Complement component GPCRs 196 2000-01-20 2013-01-28 2021-04-20 2021-04-20 27202 ENSG00000134830 OTTHUMG00000183505 uc010ela.2 AB038237 NM_018485 CCDS12699 Q9P296 11165367 MGI:2442013 RGD:1303027 609949 objectId:33 HGNC:4527 "ENST00000595464.3|NM_001271749.2" +HGNC:20656 C5orf15 chromosome 5 open reading frame 15 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KCT2|HTGN29" keratinocyte associated transmembrane protein 2 2004-04-27 2017-05-19 56951 ENSG00000113583 OTTHUMG00000129125 uc003kyo.4 AF226055 NM_020199 CCDS4167 Q8NC54 MGI:2654705 RGD:1310352 HGNC:20656 "ENST00000231512.5|NM_020199.3" +HGNC:25639 C5orf22 chromosome 5 open reading frame 22 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 FLJ11193 2006-03-24 2016-09-30 55322 ENSG00000082213 OTTHUMG00000131067 uc003jhj.4 AK002055 NM_018356 CCDS3895 Q49AR2 MGI:1925127 RGD:1306502 HGNC:25639 "ENST00000325366.14|NM_018356.3" +HGNC:26746 C5orf24 chromosome 5 open reading frame 24 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ37562 2006-04-03 2016-11-22 134553 ENSG00000181904 OTTHUMG00000129121 uc003kzz.4 BC053677 NM_152409 "CCDS4179|CCDS75307" Q7Z6I8 12477932 MGI:1925771 RGD:1566359 HGNC:26746 "ENST00000394976.4|NM_001135586.1" +HGNC:24738 C5orf34 chromosome 5 open reading frame 34 protein-coding gene gene with protein product Approved 5p12 05p12 FLJ32363 2006-10-26 2019-02-18 375444 ENSG00000172244 OTTHUMG00000131151 uc003jnz.3 AK056925 NM_198566 CCDS3946 Q96MH7 30771479 MGI:1914642 RGD:1306227 HGNC:24738 "ENST00000306862.7|NM_198566.4" +HGNC:41061 C5orf34-AS1 C5orf34 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p12 05p12 Antisense RNAs 1987 2019-07-24 2021-04-14 105374749 ENSG00000248554 OTTHUMG00000162234 XR_007058763 HGNC:41061 +HGNC:24226 C5orf38 chromosome 5 open reading frame 38 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "CEI|IRX2NB" "coordinated expression to IRX2|IRX2 neighbor" 2007-02-19 2019-12-06 153571 ENSG00000186493 OTTHUMG00000161741 uc003jdc.3 AY249324 NM_178569 "CCDS34131|CCDS77993|CCDS77995" Q86SI9 "16750006|16515847" 610522 HGNC:24226 +HGNC:33768 C5orf46 chromosome 5 open reading frame 46 protein-coding gene gene with protein product Approved 5q32 05q32 "MGC23985|SSSP1|AP-64" skin and saliva secreted protein 1 2008-07-14 2021-05-21 389336 ENSG00000178776 OTTHUMG00000163420 uc003lou.4 NM_206966 CCDS34267 Q6UWT4 33804835 MGI:2684940 RGD:1563060 HGNC:33768 "ENST00000318315.5|NM_206966.3" +HGNC:27026 C5orf47 chromosome 5 open reading frame 47 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 LOC133491 2008-07-14 2020-11-09 133491 ENSG00000185056 OTTHUMG00000163349 uc003mcw.4 NM_001144954 CCDS47343 Q569G3 32592116 MGI:1914842 RGD:1311343 HGNC:27026 "ENST00000340147.7|NM_001144954.2" HGNC:27026 +HGNC:27028 C5orf49 chromosome 5 open reading frame 49 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 LOC134121 2008-07-14 2022-03-14 134121 ENSG00000215217 OTTHUMG00000161897 uc003jea.7 NM_001089584 CCDS43300 A4QMS7 23169490 MGI:1916565 RGD:1308544 HGNC:27028 "ENST00000399810.7|NM_001089584.3" +HGNC:35121 C5orf52 chromosome 5 open reading frame 52 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 2008-09-11 2016-09-30 100190949 ENSG00000187658 OTTHUMG00000154518 uc011ddt.3 BG721329 NM_001145132 CCDS47329 A6NGY3 MGI:1914680 RGD:1308775 HGNC:35121 "ENST00000409999.4|NM_001145132.2" +HGNC:37272 C5orf58 chromosome 5 open reading frame 58 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 2009-09-30 2016-09-30 133874 ENSG00000234511 OTTHUMG00000163122 uc003mal.3 BC030767 NM_001102609 C9J3I9 RGD:11411272 HGNC:37272 "ENST00000593851.5|NM_001102609.3" +HGNC:27753 C5orf60 chromosome 5 open reading frame 60 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 2009-10-02 2017-01-27 285679 ENSG00000204661 OTTHUMG00000163221 uc003mki.4 BC043435 NM_001142306 A6NFR6 12477932 RGD:1562630 HGNC:27753 +HGNC:40051 C5orf63 chromosome 5 open reading frame 63 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "YDR286C|FLJ44606" 2011-05-05 2020-03-10 401207 ENSG00000164241 OTTHUMG00000163037 uc021ydc.1 AK126569 NM_001164478 "CCDS54895|CCDS54896" A6NC05 MGI:1924672 RGD:2299854 HGNC:40051 "ENST00000296662.10|NM_001164478.2" +HGNC:26744 C5orf64 chromosome 5 putative open reading frame 64 other unknown Approved 5q12.1 05q12.1 FLJ37543 chromosome 5 open reading frame 64 2011-05-05 2020-08-07 2021-01-25 285668 ENSG00000178722 OTTHUMG00000162412 uc063dxc.1 NR_126523 Q2M2E5 33309768 RGD:9403084 HGNC:26744 +HGNC:52969 C5orf64-AS1 C5orf64 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q12.1 05q12.1 Antisense RNAs 1987 2016-12-22 2016-12-22 100506526 ENSG00000251575 OTTHUMG00000162439 NR_105000 HGNC:52969 +HGNC:51252 C5orf67 chromosome 5 putative open reading frame 67 other unknown Approved 5q11.2 05q11.2 chromosome 5 open reading frame 67 2015-03-18 2020-08-07 2020-11-09 101928448 ENSG00000225940 OTTHUMG00000059482 NR_161255 F2Z3F1 31928498 HGNC:51252 +HGNC:1339 C6 complement C6 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 complement component 6 "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2021-04-13 729 ENSG00000039537 OTTHUMG00000094781 uc003jml.3 J05024 NM_000065 CCDS3936 P13671 MGI:88233 RGD:2238 "C6base: Mutation registry for C6 deficiency|http://structure.bmc.lu.se/idbase/C6base/index2.html|LRG_29|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_29.xml" 217050 160107 HGNC:1339 "ENST00000337836.10|NM_000065.5" +HGNC:13927 C6orf15 chromosome 6 open reading frame 15 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 STG simian taste bud-specific gene 2002-11-18 2018-12-06 29113 ENSG00000204542 OTTHUMG00000031111 uc003nsk.2 AB031481 NM_014070 CCDS4693 Q6UXA7 15217361 MGI:1916792 RGD:1562885 611401 HGNC:13927 "ENST00000259870.4|NM_014070.3" +HGNC:19076 C6orf47 chromosome 6 open reading frame 47 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "D6S53E|G4" 2002-08-13 2016-11-23 57827 ENSG00000204439 OTTHUMG00000031172 uc011ipu.1 AF129756 NM_021184 CCDS34399 O95873 2477242 MGI:90673 RGD:1303038 HGNC:19076 "ENST00000375911.2|NM_021184.4" +HGNC:39767 C6orf47-AS1 C6orf47 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 C6orf47 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-21 2012-08-15 2012-10-12 106480731 ENSG00000227198 OTTHUMG00000057503 uc063ywo.1 C6orf47-AS1 +HGNC:20881 C6orf52 chromosome 6 open reading frame 52 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 2003-04-16 2007-06-07 2007-06-07 2022-01-11 347744 ENSG00000137434 OTTHUMG00000014240 uc011dij.3 BC016820 NM_001145020 "CCDS47371|CCDS87364" Q5T4I8 12477932 RGD:1562963 HGNC:20881 "ENST00000259983.8|NM_001145020.3" +HGNC:20960 C6orf58 chromosome 6 open reading frame 58 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 LEG1 liver enriched gene 1 homolog 2003-04-24 2020-09-10 352999 ENSG00000184530 OTTHUMG00000015530 uc003qbh.5 BC062712 NM_001010905 CCDS34533 Q6P5S2 26901320 MGI:1914969 RGD:1311933 HGNC:20960 "ENST00000329722.8|NM_001010905.3" +HGNC:20998 C6orf62 chromosome 6 open reading frame 62 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "FLJ12619|DKFZP564G182|XTP12" HBV X-transactivated protein 12 2003-05-01 2020-02-03 81688 ENSG00000112308 OTTHUMG00000014361 uc003nel.5 AL136632 NM_030939 CCDS4559 Q9GZU0 11230166 MGI:2441726 RGD:6491729 HGNC:20998 "ENST00000378119.9|NM_030939.5" +HGNC:21114 C6orf89 chromosome 6 open reading frame 89 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "FLJ25357|BRAP" "bombesin receptor activated protein|amfion" 2003-05-20 2018-12-06 221477 ENSG00000198663 OTTHUMG00000014613 uc003omw.4 AK058086 NM_152734 "CCDS75444|CCDS69100|CCDS4827" Q6UWU4 "21857995|23460338|26460487" MGI:2136782 RGD:735065 616642 HGNC:21114 "ENST00000480824.7|NM_001286635.2" +HGNC:21233 C6orf118 chromosome 6 open reading frame 118 protein-coding gene gene with protein product Approved 6q27 06q27 "MGC23884|bA85G2.1" 2003-05-29 2022-01-05 168090 ENSG00000112539 OTTHUMG00000015984 uc003qum.5 NM_144980 CCDS5288 Q5T5N4 34318869 MGI:1914181 RGD:1598061 HGNC:21233 "ENST00000230301.9|NM_144980.4" +HGNC:21247 C6orf120 chromosome 6 open reading frame 120 protein-coding gene gene with protein product Approved 6q27 06q27 bA160E12.4 2003-12-01 2019-07-12 387263 ENSG00000185127 OTTHUMG00000016057 uc003qxb.4 AF055030 NM_001029863 CCDS34575 Q7Z4R8 "22340178|29748000" MGI:1915162 RGD:1642424 616987 HGNC:21247 +HGNC:21288 C6orf132 chromosome 6 open reading frame 132 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 bA7K24.2 2003-11-26 2021-07-20 647024 ENSG00000188112 OTTHUMG00000014695 uc003orw.3 NM_001164446 CCDS47428 Q5T0Z8 MGI:2146908 RGD:1561662 HGNC:21288 "ENST00000341865.9|NM_001164446.3" HGNC:21288 +HGNC:21301 C6orf136 chromosome 6 open reading frame 136 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 Em:AB023049.8 2003-06-02 2016-10-05 221545 ENSG00000204564 OTTHUMG00000031221 uc003nqw.5 BC016167 NM_145029 "CCDS4684|CCDS43443|CCDS54979" Q5SQH8 MGI:1916912 RGD:1302996 HGNC:21301 "ENST00000651131.1|NM_001161376.2" +HGNC:21351 C6orf141 chromosome 6 open reading frame 141 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 MGC46457 2003-06-09 2019-03-18 135398 ENSG00000197261 OTTHUMG00000014820 uc011dwo.3 AK054918 NM_153344 CCDS55018 Q5SZD1 30872783 MGI:1918833 RGD:1588829 HGNC:21351 "ENST00000529246.4|NM_001145652.2" +HGNC:21403 C6orf163 chromosome 6 open reading frame 163 protein-coding gene gene with protein product Approved 6q15 06q15 2003-06-12 2016-09-30 206412 ENSG00000203872 OTTHUMG00000015169 uc021zcl.2 AK092941 NM_001010868 CCDS55042 Q5TEZ5 MGI:2684982 RGD:1563056 HGNC:21403 "ENST00000388923.5|NM_001010868.3" +HGNC:21620 C6orf201 chromosome 6 open reading frame 201 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 dJ1013A10.5 2003-11-26 2017-12-12 404220 ENSG00000185689 OTTHUMG00000014160 uc003mwa.5 BC047663 NM_001085401 CCDS43419 Q7Z4U5 MGI:1914011 RGD:1307537 HGNC:21620 +HGNC:28692 C6orf223 chromosome 6 open reading frame 223 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MGC45491 2007-12-19 2016-09-30 221416 ENSG00000181577 OTTHUMG00000014753 uc003own.4 BC032706 NM_153246 "CCDS34459|CCDS55016" Q8N319 12477932 HGNC:28692 +HGNC:34431 C6orf226 chromosome 6 open reading frame 226 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 LOC441150 2009-02-06 2016-09-30 441150 ENSG00000221821 OTTHUMG00000156926 uc003osw.3 "BC051007|BC060325" NM_001008739 CCDS43463 Q5I0X4 MGI:1914351 RGD:1596723 HGNC:34431 "ENST00000408925.4|NM_001008739.2" +HGNC:1346 C7 complement C7 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 complement component 7 "Sushi domain containing|Complement system activation components" "1179|1638" 2001-06-22 2016-08-10 2021-04-13 730 ENSG00000112936 OTTHUMG00000150340 uc003jmh.5 J03507 NM_000587 CCDS47201 P10643 MGI:88235 RGD:620318 "C7base: Mutation registry for C7 deficiency|http://structure.bmc.lu.se/idbase/C7base/index2.html|LRG_30|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_30.xml" 217070 160112 HGNC:1346 "ENST00000313164.10|NM_000587.4" HGNC:1346 +HGNC:21703 C7orf25 chromosome 7 open reading frame 25 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 MGC2821 2003-07-14 2021-10-08 79020 ENSG00000136197 OTTHUMG00000128869 uc064dbc.1 BC001845 NM_024054 CCDS5466 Q9BPX7 28575517 MGI:2145422 RGD:1308147 HGNC:21703 "ENST00000350427.5|NM_001099858.2" +HGNC:21722 C7orf31 chromosome 7 open reading frame 31 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 2003-07-14 2016-10-05 136895 ENSG00000153790 OTTHUMG00000128497 uc064cdg.1 AK097248 NM_138811 CCDS5394 Q8N865 25074808 MGI:1918071 RGD:1563788 616071 HGNC:21722 "ENST00000283905.8|NM_138811.4" +HGNC:21724 C7orf33 chromosome 7 open reading frame 33 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 2003-07-14 2017-07-21 202865 ENSG00000170279 OTTHUMG00000152756 uc003wew.3 BC021251 NM_145304 CCDS5890 Q8WU49 470024 HGNC:21724 "ENST00000307003.3|NM_145304.4" +HGNC:22421 C7orf50 chromosome 7 open reading frame 50 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "MGC11257|YCR016W" MicroRNA protein coding host genes 1691 2007-06-15 2017-08-04 84310 ENSG00000146540 OTTHUMG00000151477 uc003sju.3 BC006224 NM_032350 CCDS5320 Q9BRJ6 MGI:1920462 RGD:1566418 HGNC:22421 "ENST00000397098.8|NM_001318252.2" +HGNC:22247 C7orf57 chromosome 7 open reading frame 57 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 2007-10-17 2017-07-21 136288 ENSG00000164746 OTTHUMG00000155808 uc003toh.6 BC031107 NM_001100159 "CCDS59054|CCDS75594|CCDS47583" Q8NEG2 MGI:3651127 RGD:1587626 HGNC:22247 "ENST00000348904.4|NM_001100159.3" +HGNC:51256 C7orf77 chromosome 7 open reading frame 77 protein-coding gene gene with protein product Approved 7q31.33 07q31.33 2015-03-18 2017-07-28 154872 ENSG00000275356 OTTHUMG00000189249 NM_001024603 CCDS75657 A4D0Y5 HGNC:51256 +HGNC:1352 C8A complement C8 alpha chain protein-coding gene gene with protein product Approved 1p32.2 01p32.2 "complement component 8, alpha polypeptide|complement component 8 alpha subunit" Complement system activation components 1638 2001-06-22 2016-08-10 2021-04-13 731 ENSG00000157131 OTTHUMG00000008306 uc001cyo.3 M16974 NM_000562 CCDS606 P07357 MGI:2668347 RGD:1308355 LRG_139|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_139.xml 120950 160117 HGNC:1352 "ENST00000361249.4|NM_000562.3" HGNC:1352 +HGNC:1353 C8B complement C8 beta chain protein-coding gene gene with protein product Approved 1p32.2 01p32.2 complement component 8, beta polypeptide Complement system activation components 1638 2001-06-22 2016-08-10 2021-04-13 732 ENSG00000021852 OTTHUMG00000008305 uc001cyp.5 M16973 NM_000066 "CCDS60152|CCDS30730|CCDS60151" P07358 MGI:88236 RGD:2239 "C8Bbase: Mutation registry for C8B deficiency|http://structure.bmc.lu.se/idbase/C8Bbase/|LRG_31|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_31.xml" 120960 160119 HGNC:1353 "ENST00000371237.9|NM_000066.4" HGNC:1353 +HGNC:1354 C8G complement C8 gamma chain protein-coding gene gene with protein product Approved 9q34.3 09q34.3 complement component 8, gamma polypeptide "Lipocalins|Complement system activation components" "631|1638" 1988-05-11 2016-08-10 2021-04-13 733 ENSG00000176919 OTTHUMG00000020955 uc004cka.3 X06465 NM_000606 CCDS7017 P07360 MGI:88237 RGD:1309074 LRG_1211|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1211.xml 120930 160121 HGNC:1354 "ENST00000371634.7|NM_000606.3" +HGNC:17737 C8orf17 chromosome 8 putative open reading frame 17 other unknown Approved 8q24.3 08q24.3 MOST-1 MOLT-4 T-cell lymphoblastic leukemia sequence tag-1 chromosome 8 open reading frame 17 2002-03-13 2021-02-15 2021-02-15 100507249 ENSG00000250733 OTTHUMG00000140391 uc064qpr.1 AF220264 NR_172942 Q9NRJ1 17143515 616992 +HGNC:26104 C8orf33 chromosome 8 open reading frame 33 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ20989 2005-07-19 2017-07-12 65265 ENSG00000182307 OTTHUMG00000165256 uc003zfc.5 NM_023080 CCDS34974 Q9H7E9 MGI:2152337 RGD:1597990 HGNC:26104 "ENST00000331434.7|NM_023080.3" +HGNC:30905 C8orf34 chromosome 8 open reading frame 34 protein-coding gene gene with protein product Approved 8q13.2 08q13.2 "vest-1|VEST1" vestibule 1 2005-07-20 2017-10-25 116328 ENSG00000165084 OTTHUMG00000164438 uc010lyz.4 AB056652 NM_052958 CCDS6203 Q49A92 MGI:2444149 RGD:1564053 HGNC:30905 "ENST00000518698.6|NM_052958.4" +HGNC:27840 C8orf34-AS1 C8orf34 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q13.2 08q13.2 Antisense RNAs 1987 2015-03-05 2015-03-05 286189 ENSG00000248801 OTTHUMG00000164449 BC041480 NR_038877 12477932 C8orf34-AS1 HGNC:27840 +HGNC:25646 C8orf44 chromosome 8 open reading frame 44 other unknown Approved 8q13.1 08q13.1 FLJ11267 2005-08-04 2005-08-09 2020-06-08 56260 ENSG00000288596 OTTHUMG00000164562 uc003xwo.3 AK002129 NR_161216 Q96CB5 12477932 HGNC:25646 +HGNC:48354 C8orf44-SGK3 C8orf44-SGK3 readthrough other readthrough Approved 8q13.1 08q13.1 2013-05-10 2021-07-29 100533105 ENSG00000288602 OTTHUMG00000183957 NM_001204173 MGI:2182368 HGNC:48354 +HGNC:26345 C8orf48 chromosome 8 open reading frame 48 protein-coding gene gene with protein product Approved 8p22 08p22 FLJ25402 2005-08-11 2022-01-11 157773 ENSG00000164743 OTTHUMG00000165482 uc003wwp.4 AK058131 NM_001007090 CCDS47809 Q96LL4 33309715 MGI:2142538 RGD:1585243 HGNC:26345 "ENST00000297324.5|NM_001007090.3" +HGNC:32233 C8orf58 chromosome 8 open reading frame 58 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 FLJ34715 2005-09-02 2016-09-30 541565 ENSG00000241852 OTTHUMG00000154160 uc003xce.4 BC012750 NM_001013842 "CCDS75708|CCDS34862|CCDS56527" Q8NAV2 MGI:2145726 RGD:1308117 HGNC:32233 "ENST00000289989.10|NM_001013842.3" +HGNC:32296 C8orf74 chromosome 8 open reading frame 74 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 2005-09-23 2017-05-26 203076 ENSG00000171060 OTTHUMG00000163807 uc003wtd.1 BC038534 NM_001040032 CCDS47800 Q6P047 MGI:1915000 RGD:1565212 HGNC:32296 "ENST00000304519.10|NM_001040032.2" +HGNC:25924 C8orf76 chromosome 8 open reading frame 76 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 FLJ14825 2005-09-23 2019-07-12 84933 ENSG00000189376 OTTHUMG00000172562 uc003yqc.3 AK027731 NM_032847 CCDS6341 Q96K31 30733230 MGI:1923008 RGD:1310852 HGNC:25924 "ENST00000276704.6|NM_032847.3" +HGNC:33826 C8orf82 chromosome 8 open reading frame 82 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 MGC70857 2008-07-18 2016-10-05 414919 ENSG00000213563 OTTHUMG00000165181 uc003zdp.2 NM_001001795 CCDS34970 Q6P1X6 12477932 MGI:1925941 RGD:1359663 HGNC:33826 "ENST00000524821.6|NM_001001795.2" +HGNC:33774 C8orf86 chromosome 8 open reading frame 86 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 FLJ43582 2009-03-03 2016-10-05 389649 ENSG00000196166 OTTHUMG00000163992 uc003xlx.1 BC137511 NM_207412 "CCDS6108|CCDS78337" Q6ZUL3 HGNC:33774 +HGNC:44672 C8orf88 chromosome 8 open reading frame 88 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 2013-11-05 2019-12-06 100127983 ENSG00000253250 OTTHUMG00000164011 NM_001190972 CCDS59105 P0DMB2 MGI:3702175 RGD:6487307 HGNC:44672 "ENST00000517562.3|NM_001190972.2" +HGNC:51258 C8orf89 chromosome 8 open reading frame 89 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 2014-09-17 2016-11-01 100130301 ENSG00000274443 OTTHUMG00000189250 NM_001243237 CCDS75752 P0DMQ9 MGI:1923049 RGD:6487565 HGNC:51258 "ENST00000624510.4|NM_001243237.3" +HGNC:1358 C9 complement C9 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 complement component 9 Complement system activation components 1638 1989-03-08 2016-08-10 2021-04-13 735 ENSG00000113600 OTTHUMG00000094767 uc003jlv.5 NM_001737 CCDS3929 P02748 MGI:1098282 RGD:620319 "C9base: Mutation registry for C9 deficiency|http://structure.bmc.lu.se/idbase/C9base/index2.html|LRG_32|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_32.xml" 120940 160126 HGNC:1358 "ENST00000263408.5|NM_001737.5" HGNC:1358 +HGNC:19919 C9orf24 chromosome 9 open reading frame 24 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA573M23.4|NYD-SP22|MGC32921|MGC33614|CBE1|SMRP1" "ciliated bronchial epithelium 1|spermatid-specific manchette-related protein 1" 2002-12-03 2020-06-24 84688 ENSG00000164972 OTTHUMG00000000437 uc003zuh.3 BC029484 NM_147169 "CCDS6553|CCDS6554|CCDS59121|CCDS6555" Q8NCR6 "12029067|15242845|18163442" MGI:1920971 RGD:1561916 619502 HGNC:19919 "ENST00000297623.7|NM_032596.4" +HGNC:23433 C9orf40 chromosome 9 open reading frame 40 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 FLJ10110 2003-11-18 2016-10-05 55071 ENSG00000135045 OTTHUMG00000020031 uc004ajo.5 AK000972 NM_017998 CCDS6648 Q8IXQ3 MGI:3583960 RGD:1563237 HGNC:23433 "ENST00000376854.6|NM_017998.3" +HGNC:23570 C9orf43 chromosome 9 open reading frame 43 protein-coding gene gene with protein product Approved 9q32 09q32 MGC17358 2003-11-24 2017-08-23 257169 ENSG00000157653 OTTHUMG00000020526 uc004bho.6 BC026884 NM_152786 CCDS6796 Q8TAL5 12477932 MGI:3045314 RGD:1563460 HGNC:23570 "ENST00000374165.6|NM_001278629.2" +HGNC:23677 C9orf50 chromosome 9 open reading frame 50 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 FLJ35803 2005-12-22 2017-11-13 375759 ENSG00000179058 OTTHUMG00000020786 uc004byc.4 AK093122 NM_199350 CCDS35159 Q5SZB4 MGI:1923631 RGD:1311084 HGNC:23677 +HGNC:27037 C9orf57 chromosome 9 open reading frame 57 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 2004-01-06 2016-10-05 138240 ENSG00000204669 OTTHUMG00000020003 uc004aip.4 BC036255 NM_001128618 CCDS47980 Q5W0N0 12477932 MGI:3781620 RGD:6490675 HGNC:27037 "ENST00000651200.2|NM_001128618.2" +HGNC:28144 C9orf64 chromosome 9 open reading frame 64 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 MGC10999 2004-01-06 2017-06-29 84267 ENSG00000165118 OTTHUMG00000020111 uc004anb.4 AK090882 NM_032307 "CCDS83381|CCDS6666" Q5T6V5 "24911101|21499256" MGI:1917403 RGD:1311345 611342 HGNC:28144 "ENST00000376344.8|NM_032307.5" +HGNC:28337 C9orf72 C9orf72-SMCR8 complex subunit protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "MGC23980|DENNL72|DENND9" chromosome 9 open reading frame 72 "DENN domain containing|SWC tripartite complex" "504|1695" 2004-01-06 2019-01-11 2021-04-13 203228 ENSG00000147894 OTTHUMG00000019716 uc022bfa.2 AL832467 NM_018325 "CCDS6522|CCDS6523" Q96LT7 "21944778|24549040|30356970" MGI:1920455 RGD:1359108 LRG_658|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_658.xml 614260 286546 HGNC:28337 "ENST00000380003.8|NM_018325.5" HGNC:28337 +HGNC:24932 C9orf78 chromosome 9 open reading frame 78 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "HSPC220|HCA59|CSU2" Hepatocellular carcinoma-associated antigen 59 Spliceosomal P complex 1516 2004-01-27 2021-06-24 51759 ENSG00000136819 OTTHUMG00000020796 uc004byp.4 BC017570 NM_016520 CCDS6931 Q9NZ63 "12097419|25245948" MGI:2385132 RGD:1305178 619569 HGNC:24932 "ENST00000372447.7|NM_016520.3" +HGNC:28784 C9orf85 chromosome 9 open reading frame 85 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 MGC61599 2004-02-06 2016-10-05 138241 ENSG00000155621 OTTHUMG00000020002 uc004ain.4 BC010179 NM_182505 CCDS6639 Q96MD7 12477932 MGI:1913456 RGD:1359158 HGNC:28784 "ENST00000334731.7|NM_182505.5" +HGNC:19054 C9orf92 chromosome 9 open reading frame 92 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 Em:AL513424.1 2004-06-02 2016-10-25 100129385 ENSG00000205549 OTTHUMG00000019588 uc031tcu.2 NR_171034 CCDS65012 A6NGG3 HGNC:19054 +HGNC:31116 C9orf129 chromosome 9 open reading frame 129 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 bA165J3.3 2004-08-25 2017-08-23 445577 ENSG00000204352 OTTHUMG00000020248 uc010mre.3 NM_001098808 CCDS43850 Q5T035 HGNC:31116 +HGNC:31418 C9orf131 chromosome 9 open reading frame 131 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 MGC41945 2006-06-30 2017-08-30 138724 ENSG00000174038 OTTHUMG00000019853 uc003zvw.4 BC045643 NM_203299 "CCDS47962|CCDS47961|CCDS6572" Q5VYM1 MGI:1914567 RGD:2321337 HGNC:31418 "ENST00000312292.6|NM_203299.4" +HGNC:31455 C9orf152 chromosome 9 open reading frame 152 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 bA470J20.2 2004-04-20 2016-09-30 401546 ENSG00000188959 OTTHUMG00000020478 uc011lwk.3 BX648620 NM_001012993 CCDS35102 Q5JTZ5 MGI:2442889 RGD:1589037 HGNC:31455 "ENST00000400613.5|NM_001012993.3" +HGNC:31456 C9orf153 chromosome 9 open reading frame 153 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 bA507D14.1 2004-04-20 2016-10-05 389766 ENSG00000187753 OTTHUMG00000020134 uc031teh.1 NM_001010907 CCDS35055 Q5TBE3 MGI:1918150 RGD:6488044 HGNC:31456 "ENST00000339137.7|NM_001276366.4" +HGNC:26718 C9orf163 chromosome 9 putative open reading frame 163 other unknown Approved 9q34.3 09q34.3 FLJ36779 chromosome 9 open reading frame 163 2006-03-21 2020-08-07 2020-08-07 158055 ENSG00000196366 OTTHUMG00000131725 uc004chy.4 AK055336 NM_152571 Q8N9P6 HGNC:26718 +HGNC:27421 C10orf53 chromosome 10 open reading frame 53 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 Em:AC069546.1 2004-05-27 2017-07-07 282966 ENSG00000178645 OTTHUMG00000018199 uc001jib.4 BC028127 NM_182554 "CCDS31202|CCDS41521" Q8N6V4 12477932 MGI:1914335 RGD:1586999 HGNC:27421 "ENST00000374111.8|NM_001042427.3" +HGNC:31008 C10orf55 chromosome 10 putative open reading frame 55 other unknown Approved 10q22.2 10q22.2 bA417O11.3 "chromosome 10 open reading frame 55 (putative)|chromosome 10 open reading frame 55" 2004-05-27 2020-08-07 2021-02-22 414236 ENSG00000222047 OTTHUMG00000018496 uc057ueo.1 NR_160938 Q5SWW7 "21145461|28301587" HGNC:31008 +HGNC:23294 C10orf62 chromosome 10 open reading frame 62 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 bA548K23.1 2004-05-27 2016-09-30 414157 ENSG00000203942 OTTHUMG00000018858 uc001koa.4 NM_001009997 CCDS31261 Q5T681 MGI:1914015 RGD:1588156 HGNC:23294 "ENST00000370640.5|NM_001009997.3" +HGNC:28716 C10orf67 chromosome 10 open reading frame 67 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "MGC46732|bA215C7.4" "LINC01552|C10orf115" "long intergenic non-protein coding RNA 1552|chromosome 10 open reading frame 115" 2004-02-04 2022-02-28 256815 ENSG00000179133 OTTHUMG00000017818 uc010qcx.3 BC035732 NM_153714 CCDS44365 Q8IYJ2 "27812135|34692117" MGI:1918087 RGD:1598031 HGNC:28716 "ENST00000636213.3|NM_001371909.1" +HGNC:55861 C10orf67-AS1 C10orf67 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.2 10p12.2 Antisense RNAs 1987 2021-09-03 2021-09-03 105376453 ENSG00000224215 NR_155752 +HGNC:26973 C10orf71 chromosome 10 open reading frame 71 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 FLJ45913 2004-02-05 2020-03-10 118461 ENSG00000177354 OTTHUMG00000018190 uc021pqa.3 AL833265 NM_199459 CCDS44387 Q711Q0 28717008 MGI:3588196 RGD:1564899 HGNC:26973 "ENST00000374144.8|NM_001135196.2" +HGNC:45007 C10orf71-AS1 C10orf71 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.23 10q11.23 Antisense RNAs 1987 2013-01-07 2013-01-07 100506769 ENSG00000236208 OTTHUMG00000018189 uc031wgg.2 "AL598801|AL598689|DA764276" NR_108038 C10orf71-AS1 HGNC:45007 +HGNC:28500 C10orf82 chromosome 10 open reading frame 82 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "MGC33547|Em:AC016825.4" 2004-02-18 2016-10-05 143379 ENSG00000165863 OTTHUMG00000019105 uc001lcr.3 BC021737 NM_144661 "CCDS7596|CCDS81510" Q8WW14 12477932 MGI:1914757 RGD:1584737 HGNC:28500 "ENST00000588184.2|NM_001350931.2" +HGNC:25822 C10orf88 chromosome 10 open reading frame 88 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "FLJ13490|Em:AC073585.5|PAAT" protein associated with ABC transporters 2004-03-16 2020-03-27 80007 ENSG00000119965 OTTHUMG00000019190 uc001lgw.3 AK023552 NM_024942 CCDS7632 Q9H8K7 "22785457|25063848" MGI:1915527 RGD:1305014 HGNC:25822 "ENST00000481909.2|NM_024942.4" +HGNC:44080 C10orf88B C10orf88B (pseudogene) pseudogene pseudogene Approved 10q26.13 10q26.13 C10orf88B, pseudogene 2019-11-19 2020-02-11 2020-02-11 399815 ENSG00000255624 OTTHUMG00000019189 NR_027282 PGOHUM00000238960 +HGNC:26563 C10orf90 chromosome 10 open reading frame 90 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "FLJ32938|bA422P15.2|FATS" fragile-site associated tumor suppressor 2004-03-16 2019-04-18 118611 ENSG00000154493 OTTHUMG00000019245 uc001ljq.4 BC034828 NM_001004298 CCDS31310 Q96M02 "20843368|20154723|24240685" MGI:1196431 RGD:2311471 617735 HGNC:26563 "ENST00000488181.3|NM_001350921.2" +HGNC:25880 C10orf95 chromosome 10 open reading frame 95 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 FLJ14280 2004-04-07 2014-02-19 2014-02-19 2017-09-01 79946 ENSG00000120055 OTTHUMG00000018959 uc001kvo.2 AK024342 NM_024886 Q9H7T3 RGD:9474711 HGNC:25880 "ENST00000625129.1|NM_001363580.1" +HGNC:45238 C10orf95-AS1 C10orf95 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.32 10q24.32 RPARP-AS1 RPARP antisense RNA 1 Antisense RNAs 1987 2014-02-19 2020-10-02 2020-10-02 2020-10-02 100505761 ENSG00000269609 OTTHUMG00000182529 NR_038937 RPARP-AS1 HGNC:45238 +HGNC:31428 C10orf99 chromosome 10 open reading frame 99 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "UNQ1833|RLLV1833|FLJ21763|CSBF|AP-57|GPR15L" "colon-derived SUSD2 binding factor|anti-microbial peptide with 57 amino acid residues|G protein-coupled receptor 15 ligand" 2004-04-16 2021-11-01 387695 ENSG00000188373 OTTHUMG00000018635 uc001kcu.4 AY358751 NM_207373 CCDS7371 Q6UWK7 "25351403|25585381|29872130|34639163" MGI:1917295 RGD:1566160 617775 ligandId:10567 HGNC:31428 "ENST00000372126.4|NM_207373.3" +HGNC:20304 C10orf105 chromosome 10 open reading frame 105 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 FLJ00245 2004-05-27 2016-09-30 414152 ENSG00000214688 OTTHUMG00000018427 uc001jsb.3 AK074172 NM_001164375 CCDS44430 Q8TEF2 MGI:4937089 RGD:2320942 HGNC:20304 "ENST00000441508.4|NM_001164375.3" +HGNC:25707 C10orf120 chromosome 10 open reading frame 120 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 bA318C4.1 2004-05-27 2018-03-22 399814 ENSG00000183559 OTTHUMG00000019187 uc001lgn.3 NM_001010912 CCDS31302 Q5SQS8 MGI:1914681 RGD:1562283 HGNC:25707 "ENST00000329446.5|NM_001010912.4" +HGNC:28693 C10orf126 chromosome 10 open reading frame 126 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "MGC45541|bA492M23.1" 2004-04-28 2020-01-21 283080 ENSG00000204365 OTTHUMG00000017878 uc031wat.2 BC033839 NM_001278522 Q8N4M7 12477932 HGNC:28693 +HGNC:48677 C10orf143 chromosome 10 open reading frame 143 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 LINC00959 long intergenic non-protein coding RNA 959 2013-06-06 2017-09-06 2017-09-06 2019-08-09 387723 ENSG00000237489 OTTHUMG00000019268 NM_001355042 CCDS86157 A0A1B0GUT2 MGI:1924502 RGD:2318344 LINC00959 HGNC:48677 "ENST00000637128.2|NM_001355042.2" +HGNC:1163 C11orf1 chromosome 11 open reading frame 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 FLJ23499 1998-08-06 2022-03-21 64776 ENSG00000137720 OTTHUMG00000166884 uc001pmd.4 AJ250229 NM_022761 "CCDS81625|CCDS8350" Q9H5F2 10873569 MGI:1915971 RGD:1564937 HGNC:1163 "ENST00000260276.8|NM_022761.3" +HGNC:1169 C11orf16 chromosome 11 open reading frame 16 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 2000-07-31 2020-09-17 56673 ENSG00000176029 OTTHUMG00000165654 uc001mhb.5 AJ400877 NM_020643 CCDS7794 Q9NQ32 11528127 MGI:1928824 RGD:1565905 HGNC:1169 "ENST00000326053.10|NM_020643.3" +HGNC:13231 C11orf21 chromosome 11 open reading frame 21 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 2001-10-05 2018-08-06 29125 ENSG00000110665 OTTHUMG00000009759 uc009ydj.3 AB029488 NM_001142946 "CCDS86168|CCDS44518" Q9P2W6 11054561 611033 HGNC:13231 "ENST00000381153.8|NM_001329958.2" +HGNC:1174 C11orf24 chromosome 11 open reading frame 24 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 DM4E3 2000-05-23 2020-09-17 53838 ENSG00000171067 OTTHUMG00000167478 uc001onr.5 AF264781 NM_022338 "CCDS73338|CCDS8180" Q96F05 "11401438|24312644" MGI:1919306 RGD:1311946 610880 HGNC:1174 "ENST00000304271.11|NM_022338.4" +HGNC:23986 C11orf40 chromosome 11 putative open reading frame 40 other unknown Approved 11p15.4 11p15.4 NOV1 "chromosome 11 open reading frame 40 (putative)|chromosome 11 open reading frame 40" 2005-10-03 2020-08-07 2020-08-07 143501 ENSG00000171987 OTTHUMG00000165345 uc010qyg.2 AF439154 NR_172945 Q8WZ69 23762283 HGNC:23986 +HGNC:28541 C11orf42 chromosome 11 open reading frame 42 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 MGC34805 2005-10-14 2016-09-30 160298 ENSG00000180878 OTTHUMG00000133377 uc001mcj.4 BC031612 NM_173525 CCDS7759 Q8N5U0 12477932 MGI:3643909 RGD:1561034 HGNC:28541 "ENST00000316375.3|NM_173525.3" +HGNC:30531 C11orf52 chromosome 11 open reading frame 52 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "MGC14839|FLJ25219" 2006-02-06 2006-02-06 2022-01-05 91894 ENSG00000149300 OTTHUMG00000166888 uc058hgo.1 AK057948 NM_080659 CCDS8353 Q96A22 34739247 MGI:1914202 RGD:1586341 HGNC:30531 "ENST00000278601.6|NM_080659.3" +HGNC:30204 C11orf54 chromosome 11 open reading frame 54 protein-coding gene gene with protein product Approved 11q21 11q21 PTD012 2006-02-11 2021-07-12 28970 ENSG00000182919 OTTHUMG00000167452 uc001peh.5 AF092133 NM_014039 "CCDS73365|CCDS66204|CCDS8294|CCDS73366" Q9H0W9 16522806 MGI:1918234 RGD:1309534 615810 HGNC:30204 "ENST00000354421.8|NM_001286069.2" +HGNC:16990 C11orf58 chromosome 11 open reading frame 58 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 SMAP small acidic protein 2006-03-09 2017-08-18 10944 ENSG00000110696 OTTHUMG00000165910 uc001mmk.3 BC007103 NM_014267 CCDS7822 O00193 9263035 MGI:1929274 RGD:1311703 619625 HGNC:16990 "ENST00000228136.9|NM_014267.6" +HGNC:28519 C11orf65 chromosome 11 open reading frame 65 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "MGC33948|MFI" mitochondrial fission factor interactor 2006-03-10 2022-01-10 160140 ENSG00000166323 OTTHUMG00000166489 uc058hby.1 BC059411 NM_152587 "CCDS81622|CCDS8340" Q8NCR3 30059978 MGI:1922561 RGD:1311251 HGNC:28519 "ENST00000393084.6|NM_152587.5" +HGNC:28801 C11orf68 chromosome 11 open reading frame 68 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "P5326|BLES03" basophilic leukemia-expressed protein 2006-03-15 2017-08-08 83638 ENSG00000175573 OTTHUMG00000157153 uc009yqv.4 AF073483 NM_031450 "CCDS44652|CCDS8122" Q9H3H3 "16511166|25062915" MGI:2147598 RGD:628612 HGNC:28801 "ENST00000438576.3|NM_001135635.2" +HGNC:25937 C11orf71 chromosome 11 open reading frame 71 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 FLJ20010 2006-03-15 2017-08-08 54494 ENSG00000180425 OTTHUMG00000168247 uc284mzn.1 BC071695 NM_019021 "CCDS8369|CCDS76479" Q6IPW1 12477932 MGI:3643566 RGD:1563941 HGNC:25937 "ENST00000623205.2|NM_001271562.2" +HGNC:26197 C11orf80 chromosome 11 open reading frame 80 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "FLJ22531|TOPOVIBL" 2007-03-13 2016-10-07 79703 ENSG00000173715 OTTHUMG00000167164 uc021qmd.2 NM_024650 "CCDS76440|CCDS53664" Q8N6T0 "18160775|26917764" MGI:2685806 RGD:1563323 616109 HGNC:26197 "ENST00000540737.7|NM_001302084.2" +HGNC:34442 C11orf86 chromosome 11 open reading frame 86 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ22675 2008-07-18 2016-10-05 254439 ENSG00000173237 OTTHUMG00000153671 uc010rpm.3 "AK026328|AP003176" NM_001136485 CCDS44656 A6NJI1 MGI:1917111 RGD:1597421 HGNC:34442 "ENST00000683896.1|NM_001353554.2" +HGNC:33788 C11orf87 chromosome 11 open reading frame 87 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "LOH11CR1A|LOC399947|NEURIM1" neuronal integral membrane protein 1 2008-07-22 2013-12-13 2013-12-13 2021-06-21 399947 ENSG00000185742 OTTHUMG00000166559 uc010rwb.3 "AB096240|BC035798" NM_207645 CCDS31672 Q6NUJ2 "31959813|32179078" MGI:2143099 RGD:1642426 HGNC:33788 "ENST00000327419.7|NM_207645.4" +HGNC:34444 C11orf91 chromosome 11 open reading frame 91 protein-coding gene gene with protein product Approved 11p13 11p13 2008-09-16 2018-11-15 100131378 ENSG00000205177 OTTHUMG00000166320 uc001mur.3 AL049629 NM_001166692 CCDS53615 Q3C1V1 MGI:1915493 RGD:1563222 HGNC:34444 "ENST00000379011.5|NM_001166692.2" +HGNC:37213 C11orf94 chromosome 11 open reading frame 94 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 2009-09-30 2016-09-30 143678 ENSG00000234776 OTTHUMG00000167004 uc001nbs.5 NM_001080446 CCDS44577 C9JXX5 MGI:1916742 RGD:1563263 HGNC:37213 "ENST00000449465.2|NM_001080446.3" +HGNC:38675 C11orf96 chromosome 11 open reading frame 96 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 AG2 2010-07-20 2016-09-30 387763 ENSG00000187479 OTTHUMG00000166555 uc058apt.1 NM_001145033 CCDS73275 Q7Z7L8 MGI:3652053 RGD:1564664 HGNC:38675 "ENST00000617612.3|NM_001145033.2" +HGNC:49544 C11orf97 chromosome 11 open reading frame 97 protein-coding gene gene with protein product Approved 11q21 11q21 LINC01171 long intergenic non-protein coding RNA 1171 2014-01-10 2014-02-20 2014-02-20 2017-08-07 643037 ENSG00000257057 OTTHUMG00000167794 NM_001190462 CCDS81618 A0A1B0GVM6 28666954 MGI:1916575 RGD:1561795 HGNC:49544 "ENST00000542198.3|NM_001190462.2" +HGNC:51238 C11orf98 chromosome 11 open reading frame 98 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 C11orf48 2014-10-10 2017-08-04 102288414 ENSG00000278615 OTTHUMG00000167588 NM_001286086 CCDS73306 E9PRG8 28589727 MGI:1913526 RGD:1597339 HGNC:51238 "ENST00000524958.6|NM_001286086.2" +HGNC:49784 C11orf98P1 chromosome 11 open reading frame 98 pseudogene 1 pseudogene pseudogene Approved 9p22.1 09p22.1 2014-10-10 2014-10-10 106480289 ENSG00000232158 OTTHUMG00000019645 NG_044174 PGOHUM00000236400 HGNC:49784 +HGNC:1184 C12orf4 chromosome 12 open reading frame 4 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 2000-08-24 2020-09-17 57102 ENSG00000047621 OTTHUMG00000168258 uc001qms.4 AJ272205 NM_020374 CCDS8528 Q9NQ89 "25122211|27311568|25558065|31106069" MGI:107893 RGD:1311164 616082 HGNC:1184 "ENST00000261250.8|NM_020374.4" +HGNC:25322 C12orf29 chromosome 12 open reading frame 29 protein-coding gene gene with protein product Approved 12q21.32 12q21.32 DKFZp434N2030 2006-01-17 2018-02-01 91298 ENSG00000133641 OTTHUMG00000169870 uc001tao.4 AL137488 NM_001009894 CCDS31866 Q8N999 14702039 MGI:1921197 RGD:1307947 HGNC:25322 "ENST00000356891.4|NM_001009894.3" +HGNC:26846 C12orf40 chromosome 12 open reading frame 40 protein-coding gene gene with protein product Approved 12q12 12q12 FLJ40126 2006-01-23 2018-02-23 283461 ENSG00000180116 OTTHUMG00000133567 uc001rmc.5 AK097445 NM_173599 "CCDS41770|CCDS81681" Q86WS4 12477932 MGI:3613655 RGD:1584027 HGNC:26846 "ENST00000324616.9|NM_001031748.4" +HGNC:24729 C12orf42 chromosome 12 open reading frame 42 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 FLJ25323 2006-01-23 2018-02-20 374470 ENSG00000179088 OTTHUMG00000169988 uc009zuf.3 AK058052 NM_198521 CCDS44963 Q96LP6 20659153 MGI:1923890 RGD:1560034 HGNC:24729 "ENST00000548883.6|NM_198521.5" +HGNC:56185 C12orf42-AS1 C12orf42 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q23.2 12q23.2 Antisense RNAs 1987 2022-01-17 2022-01-17 101929058 ENSG00000257860 NR_126333 +HGNC:25719 C12orf43 chromosome 12 open reading frame 43 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ12448|Custos" 2006-01-23 2019-09-04 64897 ENSG00000157895 OTTHUMG00000169150 uc001tzh.3 AK022510 NM_022895 "CCDS76613|CCDS66487|CCDS9210|CCDS66486" Q96C57 "8619474|9110174|25157132" MGI:1919607 RGD:1311899 HGNC:25719 "ENST00000288757.7|NM_022895.3" +HGNC:26665 C12orf50 chromosome 12 open reading frame 50 protein-coding gene gene with protein product Approved 12q21.32 12q21.32 FLJ35821 2006-01-24 2016-09-30 160419 ENSG00000165805 OTTHUMG00000169869 uc001tam.2 AK093140 NM_152589 "CCDS86321|CCDS9031" Q8NA57 12477932 MGI:1913855 RGD:1563125 HGNC:26665 "ENST00000298699.7|NM_152589.3" +HGNC:28553 C12orf54 chromosome 12 open reading frame 54 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 MGC35033 2006-01-24 2016-09-30 121273 ENSG00000177627 OTTHUMG00000170019 uc001rrr.4 BC031670 NM_152319 CCDS8764 Q6X4T0 12477932 MGI:1920552 HGNC:28553 "ENST00000548364.7|NM_152319.4" +HGNC:26967 C12orf56 chromosome 12 open reading frame 56 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 2006-01-26 2016-09-30 115749 ENSG00000185306 OTTHUMG00000168782 uc001ssa.5 NM_001099676 "CCDS44935|CCDS61182" Q8IXR9 MGI:2442001 RGD:1561648 HGNC:26967 "ENST00000543942.7|NM_001170633.2" +HGNC:29521 C12orf57 chromosome 12 open reading frame 57 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "GRCC10|C10" gene rich cluster C10 gene 2006-01-27 2021-10-11 113246 ENSG00000111678 OTTHUMG00000169017 uc058knx.1 U47924 NM_138425 "CCDS8571|CCDS76516|CCDS76515" Q99622 "9445485|23453665|24798461|23453666" MGI:1315201 RGD:2318975 615140 331880 HGNC:29521 "ENST00000229281.6|NM_138425.4" HGNC:29521 +HGNC:28726 C12orf60 chromosome 12 open reading frame 60 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 MGC47869 2006-02-10 2016-09-30 144608 ENSG00000182993 OTTHUMG00000167473 uc001rcj.5 BC038836 NM_175874 CCDS8667 Q5U649 12477932 MGI:3605234 RGD:1563896 HGNC:28726 "ENST00000330828.3|NM_175874.4" +HGNC:34452 C12orf71 chromosome 12 open reading frame 71 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 LOC728858 2008-07-25 2016-09-30 728858 ENSG00000214700 OTTHUMG00000169274 uc001rhq.4 NM_001080406 CCDS44851 A8MTZ7 MGI:1920594 RGD:1592184 HGNC:34452 "ENST00000429849.3|NM_001080406.2" +HGNC:34450 C12orf73 chromosome 12 open reading frame 73 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ13975|DKFZp547P055|BRAWNIN" 2008-10-01 2022-01-06 728568 ENSG00000204954 OTTHUMG00000170119 uc058smq.1 AK024037 NM_001135570 CCDS44964 Q69YU5 "32161263|34969438" MGI:3698433 RGD:1593359 618812 HGNC:34450 "ENST00000378090.9|NM_001135570.3" +HGNC:35164 C12orf75 chromosome 12 open reading frame 75 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "OCC-1|OCC1|AGD3" "adipogenesis down-regulated 3|overexpressed in colon carcinoma 1" 2009-03-04 2019-02-20 387882 ENSG00000235162 OTTHUMG00000150129 uc001tlh.4 AK056999 NM_001145199 CCDS55879 Q8TAD7 "27986894|11890990|19531736|22935015" MGI:1917034 RGD:6495714 HGNC:35164 "ENST00000443585.6|NM_001145199.2" +HGNC:55936 C12orf75-AS1 C12orf75 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q23.3 12q23.3 KCCAT198 renal clear cell carcinoma-associated transcript 198 Antisense RNAs 1987 2021-11-10 2021-11-10 105369954 ENSG00000257642 NR_131986 +HGNC:33790 C12orf76 chromosome 12 open reading frame 76 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 FLJ40142 2009-04-14 2016-09-30 400073 ENSG00000174456 OTTHUMG00000169315 uc001tqd.2 BC041968 NM_207435 CCDS9141 Q8N812 RGD:1560398 HGNC:33790 "ENST00000615315.2|NM_001389625.1" +HGNC:42693 C13orf42 chromosome 13 open reading frame 42 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 LINC00371 long intergenic non-protein coding RNA 371 2011-08-16 2017-05-31 2017-05-31 2017-09-14 647166 ENSG00000226792 OTTHUMG00000153575 uc031qlr.2 NM_001351589 CCDS86352 A0A1B0GVH6 MGI:3782307 LINC00371 HGNC:42693 "ENST00000563710.7|NM_001351589.3" +HGNC:53786 C13orf46 chromosome 13 open reading frame 46 protein-coding gene gene with protein product Approved 13q34 13q34 2017-11-30 2017-11-30 100507747 ENSG00000283199 OTTHUMG00000191740 NM_001365455 A0A1B0GUA9 MGI:1913751 RGD:1565445 HGNC:53786 "ENST00000636427.3|NM_001365455.2" +HGNC:19834 C14orf28 chromosome 14 open reading frame 28 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 "DRIP-1|DRIP1" dopamine receptor interacting protein 1 2002-11-27 2019-08-27 122525 ENSG00000179476 OTTHUMG00000170722 uc001wvo.4 AA496212 NM_001017923 CCDS32069 Q4W4Y0 "20874815|28455792" MGI:2685373 RGD:1307621 HGNC:19834 "ENST00000325192.8|NM_001017923.2" +HGNC:19849 C14orf39 chromosome 14 open reading frame 39 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 SIX6OS1 2003-01-13 2012-11-05 2012-11-05 2017-11-03 317761 ENSG00000179008 OTTHUMG00000140332 uc001xez.5 AK098187 NM_174978 CCDS9746 Q8N1H7 27796301 MGI:1923051 RGD:1559456 617307 HGNC:19849 "ENST00000321731.8|NM_174978.3" +HGNC:20162 C14orf93 chromosome 14 open reading frame 93 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "FLJ12154|RTFC" regulator of thyroid function and cancer 2002-12-19 2017-03-03 60686 ENSG00000100802 OTTHUMG00000028712 uc001wie.5 AK023026 NM_021944 "CCDS9583|CCDS61400|CCDS61399" Q9H972 28230092 MGI:1921609 RGD:1565222 HGNC:20162 "ENST00000299088.11|NM_021944.4" +HGNC:20270 C14orf119 chromosome 14 open reading frame 119 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ20671 2003-01-17 2016-09-30 55017 ENSG00000179933 OTTHUMG00000028717 uc001wiu.4 NM_017924 CCDS9588 Q9NWQ9 MGI:1920893 RGD:1308430 HGNC:20270 "ENST00000319074.6|NM_017924.4" +HGNC:20346 C14orf132 chromosome 14 open reading frame 132 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 C14orf88 chromosome 14 open reading frame 88 2003-01-28 2017-10-02 56967 ENSG00000227051 OTTHUMG00000171393 uc001yff.6 AL390130 NM_001252507 "CCDS81849|CCDS81847|CCDS81848" Q9NPU4 MGI:2443127 RGD:6501064 HGNC:20346 "ENST00000555004.3|NM_001252507.3" +HGNC:26385 C14orf178 chromosome 14 open reading frame 178 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ25976 2006-06-16 2017-06-29 283579 ENSG00000197734 OTTHUMG00000171528 uc021rwv.2 AK098842 NM_174943 Q8N769 12477932 HGNC:26385 +HGNC:33795 C14orf180 chromosome 14 open reading frame 180 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 NRAC nutritionally-regulated adipose and cardiac-enriched C14orf77 chromosome 14 open reading frame 77 2007-11-21 2012-11-12 2012-11-12 2017-07-20 400258 ENSG00000184601 OTTHUMG00000029806 uc001yow.3 NM_001008404 "CCDS32166|CCDS66722" Q8N912 23029450 MGI:2443020 RGD:1583888 619392 HGNC:33795 "ENST00000557649.6|NM_001008404.3" +HGNC:26549 C15orf32 chromosome 15 putative open reading frame 32 other unknown Approved 15q26.1 15q26.1 FLJ32831 chromosome 15 open reading frame 32 2005-07-25 2020-08-07 2021-03-05 145858 ENSG00000183643 OTTHUMG00000149844 uc002brc.2 NR_161370 Q32M92 HGNC:26549 +HGNC:24497 C15orf39 chromosome 15 open reading frame 39 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "DKFZP434H132|FLJ46337" 2005-10-24 2005-10-24 2017-08-01 56905 ENSG00000167173 OTTHUMG00000142820 uc002azp.4 AK128205 NM_015492 CCDS10276 Q6ZRI6 MGI:1921461 RGD:1305464 HGNC:24497 "ENST00000394987.5|NM_015492.5" +HGNC:28443 C15orf40 chromosome 15 open reading frame 40 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 MGC29937 2005-10-24 2016-09-30 123207 ENSG00000169609 OTTHUMG00000160473 uc002bjm.4 BC019820 NM_144597 "CCDS32312|CCDS53969|CCDS53968" Q8WUR7 MGI:1914540 RGD:1305713 HGNC:28443 "ENST00000304177.10|NM_144597.3" +HGNC:29898 C15orf48 chromosome 15 open reading frame 48 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "NMES1|MIR147BHG|COXFA4L3|MOCCI|MISTRAV" "normal mucosa of esophagus specific 1|MIR147B host gene|cytochrome c oxidase subunit FA4 like 3|modulator of cytochrome C oxidase during inflammation|mitochondrial stress response antiviral" MicroRNA protein coding host genes 1691 2005-11-15 2021-12-15 84419 ENSG00000166920 OTTHUMG00000131424 uc001zvh.5 NM_032413 CCDS10124 Q9C002 "12209954|33837217" MGI:3034182 RGD:1359583 608409 HGNC:29898 "ENST00000396650.7|NM_197955.3" +HGNC:34453 C15orf61 chromosome 15 open reading frame 61 protein-coding gene gene with protein product Approved 15q23 15q23 LOC145853 2008-07-25 2016-09-30 145853 ENSG00000189227 OTTHUMG00000172248 uc002aqs.4 NM_001143936 CCDS45289 A6NNL5 MGI:1916728 RGD:1309779 HGNC:34453 "ENST00000342683.6|NM_001143936.2" +HGNC:34489 C15orf62 chromosome 15 open reading frame 62 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 LOC643338 2008-08-07 2021-07-12 643338 ENSG00000188277 OTTHUMG00000172536 uc010bby.5 NM_001130448 CCDS45229 A8K5M9 MGI:3651144 RGD:1583955 HGNC:34489 "ENST00000344320.8|NM_001130448.3" +HGNC:26525 C16orf46 chromosome 16 open reading frame 46 protein-coding gene gene with protein product Approved 16q23.2 16q23.2 FLJ32702 2005-02-10 2016-09-30 123775 ENSG00000166455 OTTHUMG00000137629 uc002fgc.5 BC064143 NM_152337 "CCDS10932|CCDS42201" Q6P387 MGI:1916778 RGD:1586501 HGNC:26525 "ENST00000299578.10|NM_152337.3" +HGNC:26649 C16orf54 chromosome 16 open reading frame 54 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ35681 2005-04-12 2005-08-09 2019-02-21 283897 ENSG00000185905 OTTHUMG00000132116 uc002dtp.3 AK093000 NM_175900 CCDS10652 Q6UWD8 12975309 MGI:2141979 RGD:1564503 HGNC:26649 "ENST00000329410.4|NM_175900.4" +HGNC:30103 C16orf72 chromosome 16 open reading frame 72 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "FLJ41272|PRO0149|TAPR1" Telomere Attrition and p53 Response 1 2006-06-14 2021-12-20 29035 ENSG00000182831 OTTHUMG00000178147 uc002czm.4 AK123266 NM_014117 CCDS10538 Q14CZ0 "8889548|33660365" MGI:1916303 RGD:1309748 HGNC:30103 "ENST00000327827.12|NM_014117.3" +HGNC:23362 C16orf74 chromosome 16 open reading frame 74 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 MGC17624 MicroRNA protein coding host genes 1691 2006-06-29 2020-04-24 404550 ENSG00000154102 OTTHUMG00000183875 uc002fjc.5 BC009078 NM_206967 CCDS45540 Q96GX8 "29371937|32314545" MGI:1916168 RGD:1309651 HGNC:23362 "ENST00000284245.9|NM_206967.3" +HGNC:28479 C16orf78 chromosome 16 open reading frame 78 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 MGC33367 2006-08-01 2017-07-11 123970 ENSG00000166152 OTTHUMG00000133149 uc002efr.4 BC021181 NM_144602 CCDS10738 Q8WTQ4 12477932 MGI:3607717 RGD:1585876 HGNC:28479 "ENST00000299191.4|NM_144602.4" +HGNC:30755 C16orf82 chromosome 16 open reading frame 82 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 TNT 2007-08-23 2020-06-15 162083 ENSG00000234186 OTTHUMG00000161986 uc059sig.1 BC031257 NM_001145545 Q7Z2V1 12477932 RGD:2304343 HGNC:30755 "ENST00000505035.3|NM_001145545.2" +HGNC:33755 C16orf86 chromosome 16 open reading frame 86 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ41802 2008-02-22 2016-09-30 388284 ENSG00000159761 OTTHUMG00000150527 uc002ety.4 NM_001012984 CCDS32468 Q6ZW13 MGI:1918296 RGD:1561415 HGNC:33755 "ENST00000403458.9|NM_001012984.3" +HGNC:33754 C16orf87 chromosome 16 open reading frame 87 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 2008-06-13 2017-01-20 388272 ENSG00000155330 OTTHUMG00000132538 uc002eek.2 NM_001001436 "CCDS86522|CCDS10724" Q6PH81 MGI:1913964 RGD:1308706 HGNC:33754 "ENST00000285697.9|NM_001001436.4" +HGNC:28687 C16orf89 chromosome 16 open reading frame 89 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC45438 2008-07-25 2017-07-12 146556 ENSG00000153446 OTTHUMG00000159314 uc010bud.4 NM_152459 "CCDS42116|CCDS45404" Q6UX73 "12975309|20578903" MGI:2146559 RGD:1565166 HGNC:28687 "ENST00000472572.8|NM_001098514.3" +HGNC:34455 C16orf90 chromosome 16 open reading frame 90 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 LOC646174 2008-07-25 2016-09-30 646174 ENSG00000215131 OTTHUMG00000154627 uc002cvi.4 NM_001080524 CCDS45397 A8MZG2 MGI:1920511 RGD:1561796 HGNC:34455 "ENST00000437192.8|NM_001080524.2" HGNC:34455 +HGNC:27558 C16orf91 chromosome 16 open reading frame 91 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "gs103|CCSMST1|URLC5" cattle cerebrum and skeletal muscle-specific protein 1 family member 2009-02-23 2021-05-17 283951 ENSG00000174109 OTTHUMG00000176551 uc002clr.4 BC023590 NM_001010878 CCDS61789 Q4G0I0 MGI:2670966 RGD:1565784 HGNC:27558 "ENST00000442039.3|NM_001272051.2" +HGNC:26346 C16orf92 chromosome 16 open reading frame 92 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ25404|FIMP" Fertilization Influencing Membrane Protein 2009-04-06 2021-07-16 146378 ENSG00000167194 OTTHUMG00000177107 uc002dvs.2 AK058133 NM_001109659 CCDS42146 Q96LL3 32295885 MGI:1925368 RGD:1563217 618911 HGNC:26346 "ENST00000681219.1|NM_001109659.2" +HGNC:40033 C16orf95 chromosome 16 open reading frame 95 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 2011-05-23 2019-01-25 100506581 ENSG00000260456 OTTHUMG00000175680 uc002fju.4 NM_001195124 "CCDS58491|CCDS73921|CCDS54049" Q9H693 30658068 MGI:1923655 RGD:1584205 HGNC:40033 "ENST00000567970.2|NM_001195124.3" +HGNC:55269 C16orf95-DT C16orf95 divergent transcript non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 Divergent transcripts 1990 2020-10-01 2020-10-01 101928659 ENSG00000270006 NR_135180 +HGNC:40031 C16orf96 chromosome 16 open reading frame 96 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 2011-08-04 2016-09-30 342346 ENSG00000205832 OTTHUMG00000176519 uc010uxn.3 NM_001145011 CCDS53986 A6NNT2 MGI:1926059 RGD:2320756 HGNC:40031 "ENST00000444310.5|NM_001145011.2" +HGNC:28737 C17orf49 chromosome 17 open reading frame 49 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC49942|BAP18|HEPIS" "BPTF associated protein of 18 kDa|human embryo lung cellular protein interacting with SARS-CoV nsp-10" Myb/SANT domain containing 532 2005-12-13 2021-07-01 124944 ENSG00000258315 OTTHUMG00000170147 uc060ahc.1 AK055800 NM_174893 "CCDS45596|CCDS32542|CCDS45595" Q8IXM2 "25456412|27226492" MGI:1915609 RGD:1308134 617215 HGNC:28737 "ENST00000439424.6|NM_174893.4" +HGNC:29581 C17orf50 chromosome 17 open reading frame 50 protein-coding gene gene with protein product Approved 17q12 17q12 2005-12-13 2016-09-30 146853 ENSG00000270806 OTTHUMG00000188389 uc002hjx.4 BC021727 NM_145272 CCDS42298 Q8WW18 MGI:1913580 RGD:1597447 HGNC:29581 "ENST00000605587.2|NM_145272.4" +HGNC:27568 C17orf58 chromosome 17 open reading frame 58 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 2005-12-15 2016-09-30 284018 ENSG00000186665 OTTHUMG00000179782 uc002jgi.6 AK026583 NM_181656 "CCDS42375|CCDS45765" Q2M2W7 12477932 MGI:1916316 RGD:1565033 HGNC:27568 "ENST00000580729.3|NM_001382359.1" +HGNC:26990 C17orf64 chromosome 17 open reading frame 64 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 2005-12-16 2021-05-18 124773 ENSG00000141371 OTTHUMG00000157171 uc002iyq.4 BC048806 NM_181707 CCDS32698 Q86WR6 "27591891|33566224" MGI:1920884 RGD:1310166 HGNC:26990 "ENST00000269127.5|NM_181707.3" +HGNC:27900 C17orf67 chromosome 17 open reading frame 67 protein-coding gene gene with protein product Approved 17q22 17q22 2005-12-16 2016-10-05 339210 ENSG00000214226 OTTHUMG00000132083 uc002iuq.5 BC041467 NM_001085430 CCDS42364 Q0P5P2 12477932 MGI:2685371 RGD:1592433 HGNC:27900 "ENST00000397861.7|NM_001085430.4" +HGNC:30173 C17orf75 chromosome 17 open reading frame 75 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "NJMU-R1|SRI2" sensitization to ricin complex subunit 2 2006-01-12 2018-06-12 64149 ENSG00000108666 OTTHUMG00000179585 uc002hhg.4 AB062437 NM_022344 CCDS58537 Q9HAS0 "23394947|29426865" MGI:1917841 RGD:1310429 HGNC:30173 "ENST00000577809.6|NM_022344.4" +HGNC:26831 C17orf78 chromosome 17 open reading frame 78 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ39647 2006-01-24 2016-09-30 284099 ENSG00000278505 OTTHUMG00000188467 uc284otp.1 BC034672 NM_173625 "CCDS45655|CCDS82110" Q8N4C9 14702039 MGI:3650287 RGD:7517962 HGNC:26831 "ENST00000615133.2|NM_173625.5" +HGNC:29601 C17orf80 chromosome 17 open reading frame 80 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HLC-8|MIG3|FLJ20721|SPEP1" "sperm-expressed protein 1|migration-inducing protein 3" 2006-02-13 2012-02-24 2012-02-24 2020-11-17 55028 ENSG00000141219 OTTHUMG00000178417 uc002jjm.6 AY163812 NM_017941 "CCDS42377|CCDS11694|CCDS74145|CCDS45767" Q9BSJ5 MGI:106356 RGD:1359207 HGNC:29601 "ENST00000535032.7|NM_001351264.2" +HGNC:33800 C17orf97 chromosome 17 open reading frame 97 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "LOC400566|LIAT1" ligand of ATE1 2008-08-06 2021-07-12 400566 ENSG00000187624 OTTHUMG00000132479 uc021tna.1 "AK128660|BC057385" NM_001013672 CCDS32519 Q6ZQX7 "25369936|33443146" MGI:1921480 RGD:1565611 HGNC:33800 "ENST00000360127.7|NM_001013672.5" +HGNC:34492 C17orf98 chromosome 17 open reading frame 98 protein-coding gene gene with protein product Approved 17q12 17q12 LOC388381 2008-08-06 2016-09-30 388381 ENSG00000275489 OTTHUMG00000188506 uc002hqv.3 "AC006449|DY654789" NM_001080465 CCDS42310 A8MV24 16625196 MGI:1919465 RGD:1587402 HGNC:34492 "ENST00000614158.2|NM_001080465.3" +HGNC:34490 C17orf99 chromosome 17 open reading frame 99 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "GLPG464|UNQ464" 2008-08-07 2018-10-30 100141515 ENSG00000187997 OTTHUMG00000153871 uc002jus.5 AY358510 NM_001163075 CCDS54171 Q6UX52 28978694 MGI:1924977 RGD:1591144 HGNC:34490 "ENST00000340363.10|NM_001163075.2" +HGNC:34494 C17orf100 chromosome 17 open reading frame 100 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 LOC388327 2008-08-12 2020-06-15 388327 ENSG00000256806 OTTHUMG00000188340 uc284ohu.1 "BC028174|BC038956|BC052606" NM_001105520 CCDS73952 A8MU93 MGI:1922554 RGD:6486589 HGNC:34494 "ENST00000542475.3|NM_001105520.2" +HGNC:37238 C17orf107 chromosome 17 open reading frame 107 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 2009-09-30 2016-09-30 100130311 ENSG00000205710 OTTHUMG00000164838 uc002fzl.4 AK128415 NM_001145536 CCDS45591 Q6ZR85 MGI:2148639 RGD:1597577 HGNC:37238 "ENST00000381365.4|NM_001145536.2" +HGNC:53437 C17orf113 chromosome 17 open reading frame 113 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 2017-04-07 2017-11-13 110806298 ENSG00000267221 OTTHUMG00000180103 NM_001358661 CCDS86598 A0A1B0GUU1 HGNC:53437 "ENST00000587304.3|NM_001358661.2" +HGNC:55343 C17orf114 chromosome 17 open reading frame 114 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 2020-11-04 2020-11-04 119139905 ENSG00000262165 NM_001395223 A0A1B0GUV1 MGI:5623078 +HGNC:26447 C18orf15 chromosome 18 putative open reading frame 15 other unknown Approved 18p11.21 18p11.21 "FLJ31338|HsT3231" "chromosome 18 open reading frame 15 (putative)|chromosome 18 open reading frame 15" 2004-04-29 2020-08-07 2021-03-05 147276 ENSG00000279020 OTTHUMG00000181926 uc060nqi.1 AK055900 NR_146617 Q96N68 14702039 HGNC:26447 +HGNC:28802 C18orf21 chromosome 18 open reading frame 21 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "PNAS-131|PNAS-124|HsT3108" 2004-05-05 2016-09-30 83608 ENSG00000141428 OTTHUMG00000128531 uc002kzc.4 BC025950 NM_031446 "CCDS74212|CCDS56064|CCDS11916" Q32NC0 12477932 MGI:1915296 RGD:1564673 HGNC:28802 "ENST00000592875.6|NM_031446.5" +HGNC:28172 C18orf25 chromosome 18 open reading frame 25 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "MGC12909|ARKL1|RNF111L1|Ark2N" ARKadia-like 1 2004-05-19 2018-05-15 147339 ENSG00000152242 OTTHUMG00000179190 uc032hdb.2 AL713661 NM_145055 "CCDS42430|CCDS42431" Q96B23 "15722956|24216761" MGI:2444951 RGD:1308601 HGNC:28172 "ENST00000615052.5|NM_145055.5" +HGNC:31690 C18orf32 chromosome 18 open reading frame 32 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 FLJ23458 2007-08-02 2022-02-24 497661 ENSG00000177576 OTTHUMG00000179688 uc002ldl.4 AK027111 NM_001035005 CCDS32831 Q8TCD1 "35107634|29255114" MGI:3039614 RGD:1562987 HGNC:31690 "ENST00000318240.8|NM_001035005.4" +HGNC:13796 C18orf54 chromosome 18 open reading frame 54 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "MGC33382|LAS2" lung adenoma susceptibility protein 2 2005-01-04 2018-11-12 162681 ENSG00000166845 OTTHUMG00000132703 uc031rij.3 AK126503 NM_173529 "CCDS74223|CCDS11956" Q8IYD9 MGI:1922045 RGD:1563837 613258 HGNC:13796 "ENST00000620105.5|NM_001288980.2" +HGNC:40037 C18orf63 chromosome 18 open reading frame 63 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 DKFZP781G0119 2011-05-19 2019-12-06 644041 ENSG00000206043 OTTHUMG00000178987 uc002llj.4 NM_001174123 CCDS54189 Q68DL7 MGI:4936900 RGD:2323488 HGNC:40037 "ENST00000579455.2|NM_001174123.2" +HGNC:25443 C19orf12 chromosome 19 open reading frame 12 protein-coding gene gene with protein product Approved 19q12 19q12 "MGC10922|DKFZP762D096|NBIA4|MPAN" "neurodegeneration with brain iron accumulation 4|membrane protein-associated neurodegeneration" SPG43 spastic paraplegia 43 (autosomal recessive) 2004-02-11 2018-08-13 83636 ENSG00000131943 OTTHUMG00000149838 uc031rkd.1 AK057185 NM_031448 "CCDS59373|CCDS12418|CCDS74325" Q9NSK7 "21981780|23857908|26136767" MGI:1919494 RGD:1585208 614297 289569 HGNC:25443 "ENST00000323670.14|NM_031448.6" HGNC:25443 +HGNC:28642 C19orf18 chromosome 19 open reading frame 18 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC41906 2004-02-19 2016-09-30 147685 ENSG00000177025 OTTHUMG00000183450 uc002qqv.3 BC033933 NM_152474 CCDS12967 Q8NEA5 12477932 MGI:1920340 RGD:1595996 HGNC:28642 "ENST00000314391.3|NM_152474.5" +HGNC:26711 C19orf25 chromosome 19 open reading frame 25 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ36666 2004-03-16 2022-01-11 148223 ENSG00000119559 OTTHUMG00000180092 uc060rbw.1 AK075267 NM_152482 CCDS45898 Q9UFG5 "15824131|29778836" MGI:1913624 RGD:1359127 HGNC:26711 "ENST00000585675.6|NM_152482.3" +HGNC:16668 C19orf33 chromosome 19 open reading frame 33 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "IMUP-1|IMUP-2|H2RSP|IMUP" "immortalization-upregulated protein|HAI-2 related small protein|hepatocyte growth factor activator inhibitor type 2-related small protein" 2004-04-28 2016-09-30 64073 ENSG00000167644 OTTHUMG00000181894 uc002ohu.2 AF213678 NM_033520 "CCDS82344|CCDS12511" Q9GZP8 11080599 MGI:1919525 RGD:9176702 619711 HGNC:16668 "ENST00000301246.10|NM_033520.3" +HGNC:34073 C19orf38 chromosome 19 open reading frame 38 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 HIDE1 Highly expressed in immature dendritic cell transcript 1 2008-04-14 2008-04-14 2019-04-08 255809 ENSG00000214212 OTTHUMG00000180697 uc060tmt.1 NM_001136482 CCDS45970 A8MVS5 MGI:3043001 RGD:1587445 HGNC:34073 "ENST00000397820.5|NM_001136482.3" +HGNC:26141 C19orf44 chromosome 19 open reading frame 44 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 FLJ21742 2006-06-19 2017-07-14 84167 ENSG00000105072 OTTHUMG00000182439 uc002neh.3 AK025395 NM_032207 "CCDS74306|CCDS12345" Q9H6X5 12477932 MGI:1919504 RGD:1311847 HGNC:26141 "ENST00000221671.8|NM_032207.4" +HGNC:26723 C19orf47 chromosome 19 open reading frame 47 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ36888 2006-07-12 2016-09-30 126526 ENSG00000160392 OTTHUMG00000179028 uc002oni.6 AL834131 NM_178830 CCDS58662 Q8N9M1 12477932 MGI:1913617 RGD:1307554 HGNC:26723 "ENST00000683109.1|NM_001256441.2" +HGNC:29667 C19orf48 chromosome 19 open reading frame 48 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MGC13170|BC006151" multidrug resistance-related protein "Minor histocompatibility antigens|Small nucleolar RNA protein coding host genes" "870|1835" 2006-07-12 2017-04-20 84798 ENSG00000167747 OTTHUMG00000182875 uc002ptg.4 BC037227 NM_032712 CCDS12803 Q6RUI8 "12452007|18698046" MGI:1914226 RGD:1309326 618864 HGNC:29667 +HGNC:24991 C19orf53 chromosome 19 open reading frame 53 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "HSPC023|LYDG10" leydig cell tumor 10 kDa protein homolog 2006-08-08 2016-10-05 28974 ENSG00000104979 OTTHUMG00000180914 uc002mxg.4 AF078852 NM_014047 CCDS12298 Q9UNZ5 11042152 MGI:1289231 RGD:735128 HGNC:24991 "ENST00000588234.6|NM_014047.3" +HGNC:24758 C19orf54 chromosome 19 open reading frame 54 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ41131 2006-08-08 2017-07-14 284325 ENSG00000188493 OTTHUMG00000150174 uc002oou.1 AK123126 NM_198476 CCDS12564 Q5BKX5 MGI:3041247 RGD:1560854 HGNC:24758 "ENST00000378313.7|NM_198476.5" +HGNC:34354 C19orf67 chromosome 19 open reading frame 67 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 2008-07-02 2017-07-20 646457 ENSG00000188032 OTTHUMG00000169303 uc031rjr.2 NM_001277378 CCDS59360 A6NJJ6 MGI:1920703 RGD:1586683 HGNC:34354 "ENST00000548523.6|NM_001277378.2" +HGNC:25534 C19orf73 chromosome 19 open reading frame 73 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FLJ10490 2009-04-06 2017-07-21 55150 ENSG00000221916 OTTHUMG00000183345 uc002pmq.4 AK001352 NM_018111 CCDS42589 Q9NVV2 12477932 HGNC:25534 "ENST00000408991.4|NM_018111.3" +HGNC:40041 C19orf81 chromosome 19 open reading frame 81 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 2011-08-15 2016-09-30 342918 ENSG00000235034 OTTHUMG00000154593 uc021uyf.1 NM_001195076 CCDS54296 C9J6K1 MGI:1916599 RGD:1309036 HGNC:40041 "ENST00000425202.6|NM_001195076.2" +HGNC:27112 C19orf84 chromosome 19 open reading frame 84 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 2014-01-02 2016-09-30 147646 ENSG00000262874 OTTHUMG00000177322 "BC043532|BC085012" NM_001193623 CCDS58676 I3L1E1 12477932 MGI:5621884 RGD:9101016 HGNC:27112 "ENST00000574814.2|NM_001193623.2" +HGNC:53653 C19orf85 chromosome 19 open reading frame 85 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 2017-08-14 2017-11-30 111064650 ENSG00000283567 OTTHUMG00000191751 NM_001386794 A0A1B0GUS0 MGI:5595369 "ENST00000635964.2|NM_001386794.1" +HGNC:15873 C20orf27 chromosome 20 open reading frame 27 protein-coding gene gene with protein product Approved 20p13 20p13 FLJ20550 hypothetical protein LOC54976 2001-06-21 2020-02-13 54976 ENSG00000101220 OTTHUMG00000031753 uc002wji.3 AK000557 NM_001039140 "CCDS33436|CCDS58763" Q9GZN8 "11780052|32024300" MGI:1914576 RGD:1311739 HGNC:15873 "ENST00000379772.4|NM_001258429.2" +HGNC:16216 C20orf85 chromosome 20 open reading frame 85 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "bA196N14.1|LLC1" Low in Lung Cancer 1 2001-07-17 2016-09-30 128602 ENSG00000124237 OTTHUMG00000032836 uc002xyv.4 AL354776 NM_178456 CCDS13465 Q9H1P6 MGI:1919471 RGD:1589960 619277 HGNC:16216 "ENST00000371168.4|NM_178456.3" +HGNC:16227 C20orf96 chromosome 20 open reading frame 96 protein-coding gene gene with protein product Approved 20p13 20p13 dJ1103G7.2 2001-07-17 2016-09-30 140680 ENSG00000196476 OTTHUMG00000031626 uc002wde.3 AL034548 NM_153269 "CCDS12994|CCDS74685" Q9NUD7 MGI:3045333 RGD:1559448 HGNC:16227 "ENST00000360321.7|NM_153269.3" +HGNC:16134 C20orf141 chromosome 20 open reading frame 141 protein-coding gene gene with protein product Approved 20p13 20p13 dJ860F19.4 2001-07-17 2016-09-30 128653 ENSG00000258713 OTTHUMG00000031707 uc002wgw.4 NM_080739 CCDS13034 Q9NUB4 MGI:1922906 RGD:2319030 HGNC:16134 "ENST00000603872.2|NM_001256538.2" +HGNC:16137 C20orf144 chromosome 20 open reading frame 144 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "dJ63M2.6|bclt" bcl-2-like protein from testis 2001-07-17 2016-09-30 128864 ENSG00000149609 OTTHUMG00000032263 uc002wzs.3 AL121906 NM_080825 CCDS13223 Q9BQM9 11780052 MGI:1922730 RGD:1561517 HGNC:16137 "ENST00000375222.4|NM_080825.4" +HGNC:16166 C20orf173 chromosome 20 open reading frame 173 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 dJ477O4.4 2001-07-17 2022-03-24 140873 ENSG00000125975 OTTHUMG00000032340 uc061wmz.1 AL121586 NM_001145350 CCDS46594 Q96LM9 MGI:2443361 RGD:7514905 HGNC:16166 "ENST00000444723.3|NM_001145350.2" +HGNC:16174 C20orf181 chromosome 20 open reading frame 181 other unknown Approved 20q13.33 20q13.33 dJ824A14.1 2001-07-17 2020-04-20 100128998 ENSG00000279610 OTTHUMG00000033002 uc061ypy.1 U63828 XR_001754451 HGNC:16174 +HGNC:37254 C20orf202 chromosome 20 open reading frame 202 protein-coding gene gene with protein product Approved 20p13 20p13 2009-09-10 2016-09-30 400831 ENSG00000215595 OTTHUMG00000129375 uc002wer.4 NM_001009612 CCDS46567 A1L168 MGI:3039588 RGD:2323360 HGNC:37254 "ENST00000400633.3|NM_001394958.1" +HGNC:26592 C20orf203 chromosome 20 open reading frame 203 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 FLJ33706 2010-04-01 2017-03-07 284805 ENSG00000198547 OTTHUMG00000032224 uc002wxz.4 AK091025 NM_182584 CCDS13203 Q8NBC4 20376170 HGNC:26592 "ENST00000608990.6|NM_182584.4" +HGNC:27655 C20orf204 chromosome 20 open reading frame 204 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "DKFZp434G015|FLJ27267" "PRR17|NCRNA00176|LINC00176" "proline rich 17|non-protein coding RNA 176|long intergenic non-protein coding RNA 176" 2006-08-24 2017-04-07 2017-04-07 2021-03-24 284739 ENSG00000196421 OTTHUMG00000033015 uc002yhq.4 NM_001348090 CCDS86971 A0A1B0GTL2 33731669 MGI:5588956 RGD:1561282 HGNC:27655 "ENST00000636176.2|NM_001387010.1" +HGNC:1300 C21orf58 chromosome 21 open reading frame 58 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 2000-05-23 2020-09-17 54058 ENSG00000160298 OTTHUMG00000090634 uc002zjf.5 NM_058180 "CCDS13735|CCDS68229" P58505 MGI:1924214 RGD:1564149 HGNC:1300 "ENST00000291691.12|NM_058180.5" +HGNC:1305 C21orf62 chromosome 21 open reading frame 62 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B37|PRED81" C21orf120 chromosome 21 open reading frame 120 2000-08-22 2020-09-17 56245 ENSG00000205929 OTTHUMG00000163477 uc011adt.3 AF231922 NM_019596 CCDS42919 Q9NYP8 MGI:1921637 RGD:1562726 HGNC:1305 "ENST00000479548.2|NM_001162495.3" +HGNC:1290 C21orf62-AS1 C21orf62 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 C21orf49 chromosome 21 open reading frame 49 Antisense RNAs 1987 2000-05-23 2014-10-01 2014-10-01 2014-10-01 54067 ENSG00000205930 OTTHUMG00000064992 NR_024622 Q17RA5 C21orf62-AS1 HGNC:1290 +HGNC:16459 C21orf91 chromosome 21 open reading frame 91 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "YG81|EURL|CSSG1" "cold sore susceptibility gene 1|early undifferentiated retina and lens" "C21orf38|C21orf14" chromosome 21 open reading frame 38 2001-08-24 2003-07-22 2022-01-05 54149 ENSG00000154642 OTTHUMG00000074509 uc002yko.4 AF239726 NM_017447 "CCDS42908|CCDS42909|CCDS42907" Q9NYK6 "22039568|27404227|33796011|34145395" MGI:1196400 RGD:1563888 HGNC:16459 "ENST00000284881.9|NM_001100420.2" +HGNC:16729 C21orf91-OT1 C21orf91 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 D21S2089E NCRNA00285 "non-protein coding RNA 285|C21orf91 overlapping transcript 1 (non-protein coding)" Overlapping transcripts 1988 2010-08-16 2011-08-19 2014-06-02 2014-11-19 246312 ENSG00000240770 OTTHUMG00000074506 uc061zej.1 "AY063452|AY063453" NR_038870 12036297 C21orf91-OT1 HGNC:16729 +HGNC:39602 C21orf140 chromosome 21 open reading frame 140 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 FAM243A family with sequence similarity 243 member A 2013-11-05 2021-06-18 2021-06-18 2021-06-18 101928147 ENSG00000222018 OTTHUMG00000154291 NM_001282537 CCDS63357 B9A014 MGI:1922578 RGD:1560327 HGNC:39602 "ENST00000410005.2|NM_001282537.2" +HGNC:15558 C22orf15 chromosome 22 open reading frame 15 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "FLJ36561|N27C7-3" 2004-06-24 2016-09-30 150248 ENSG00000169314 OTTHUMG00000150740 uc011aja.3 AB050773 NM_182520 "CCDS82698|CCDS13814" Q8WYQ4 MGI:2685713 RGD:1564162 HGNC:15558 "ENST00000402217.8|NM_182520.3" +HGNC:18589 C22orf23 chromosome 22 open reading frame 23 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "FLJ32787|EVG1|LOC84645" 2002-04-30 2016-09-30 84645 ENSG00000128346 OTTHUMG00000150672 uc003auj.3 AF324466 NM_032561 "CCDS13962|CCDS74860" Q9BZE7 11237012 MGI:1920774 RGD:1359634 619678 HGNC:18589 "ENST00000403305.6|NM_032561.5" +HGNC:26931 C22orf31 chromosome 22 open reading frame 31 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "HS747E2A|bK747E2.1" 2006-07-05 2016-09-30 25770 ENSG00000100249 OTTHUMG00000151011 uc003aej.2 AL035364 NM_015370 CCDS13848 O95567 15461802 RGD:7675909 HGNC:26931 "ENST00000216071.5|NM_015370.2" +HGNC:27012 C22orf39 chromosome 22 open reading frame 39 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 MGC74441 2007-12-06 2016-09-30 128977 ENSG00000242259 OTTHUMG00000150137 uc062blt.1 NM_173793 "CCDS33599|CCDS54498" Q6P5X5 MGI:1919557 RGD:1595717 HGNC:27012 "ENST00000399562.9|NM_173793.5" +HGNC:27160 C22orf42 chromosome 22 open reading frame 42 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 2009-03-05 2019-02-18 150297 ENSG00000205856 OTTHUMG00000030380 uc003amd.4 BC040263 NM_001010859 CCDS33639 Q6IC83 26308446 HGNC:27160 "ENST00000382097.4|NM_001010859.3" +HGNC:26294 C22orf46 chromosome 22 putative open reading frame 46 other unknown Approved 22q13.2 22q13.2 "FLJ23584|CTA-216E10.6" chromosome 22 open reading frame 46 2009-10-02 2020-08-07 2020-08-07 79640 ENSG00000184208 OTTHUMG00000151188 uc003bax.1 BC007210 NR_160905 C9J442 12477932 MGI:2685593 RGD:2318773 HGNC:26294 +HGNC:1368 CA1 carbonic anhydrase 1 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 Car1 carbonic anhydrase I Carbonic anhydrases 460 1986-01-01 2016-03-18 2020-09-17 759 ENSG00000133742 OTTHUMG00000164941 uc003ydh.4 M33987 NM_001738 CCDS6237 P00915 1916821 MGI:88268 RGD:1309780 114800 objectId:2597 4.2.1.1 HGNC:1368 "ENST00000523022.6|NM_001128831.4" +HGNC:1373 CA2 carbonic anhydrase 2 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 "Car2|CA-II|CAII" carbonic anhydrase II Carbonic anhydrases 460 2001-06-22 2016-03-18 2020-09-17 760 ENSG00000104267 OTTHUMG00000164944 uc003ydk.3 J03037 NM_000067 CCDS6239 P00918 3107918 MGI:88269 RGD:2240 611492 119117 objectId:3092 4.2.1.1 HGNC:1373 "ENST00000285379.10|NM_000067.3" HGNC:1373 +HGNC:1374 CA3 carbonic anhydrase 3 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 "Car3|CAIII" "carbonic anhydrase III, muscle specific|carbonic anhydrase III" Carbonic anhydrases 460 2001-06-22 2016-03-18 2020-09-17 761 ENSG00000164879 OTTHUMG00000164942 uc003ydj.4 AJ006473 NM_005181 CCDS6238 P07451 6221502 MGI:88270 RGD:2241 114750 4.2.1.1 HGNC:1374 "ENST00000285381.3|NM_005181.4" +HGNC:51657 CA3-AS1 CA3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q21.2 08q21.2 Antisense RNAs 1987 2015-04-24 2015-04-24 100996348 ENSG00000253549 OTTHUMG00000164943 NR_121630 CA3-AS1 HGNC:51657 +HGNC:1375 CA4 carbonic anhydrase 4 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "CAIV|Car4" RP17 "retinitis pigmentosa 17 (autosomal dominant)|carbonic anhydrase IV" Carbonic anhydrases 460 1992-04-07 2016-03-18 2020-09-17 762 ENSG00000167434 OTTHUMG00000179987 uc002iym.5 L10955 NM_000717 CCDS11624 P22748 8325641 MGI:1096574 RGD:2242 114760 119122 objectId:2599 4.2.1.1 HGNC:1375 "ENST00000300900.9|NM_000717.5" HGNC:1375 +HGNC:1377 CA5A carbonic anhydrase 5A protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "CAV|CAVA" CA5 carbonic anhydrase VA, mitochondrial Carbonic anhydrases 460 1993-10-15 2016-03-18 2021-04-13 763 ENSG00000174990 OTTHUMG00000137677 uc002fkn.2 L19297 NM_001739 CCDS10965 P35218 "8356065|7490083" MGI:101946 RGD:2243 LRG_1280|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1280.xml 114761 404144 objectId:3093 4.2.1.1 HGNC:1377 "ENST00000649794.3|NM_001739.2" HGNC:1377 +HGNC:1379 CA5AP1 carbonic anhydrase 5A pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 CA5P "carbonic anhydrase V pseudogene|carbonic anhydrase VA pseudogene 1" 1995-09-20 2012-08-21 2016-03-18 2016-03-18 764 ENSG00000260133 OTTHUMG00000176772 NG_027849 7490083 PGOHUM00000248796 HGNC:1379 +HGNC:1378 CA5B carbonic anhydrase 5B protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 carbonic anhydrase VB, mitochondrial Carbonic anhydrases 460 1999-09-16 2016-03-18 2020-09-17 11238 ENSG00000169239 OTTHUMG00000021183 uc004cxe.4 AB021660 NM_007220 CCDS14171 Q9Y2D0 10409679 MGI:1926249 RGD:1549783 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CA5B 300230 HGNC:1378 "ENST00000318636.8|NM_007220.4" +HGNC:29544 CA5BP1 carbonic anhydrase 5B pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 PRO2325 "similar to carbonic anhydrase VB, mitochondrial precursor|carbonic dehydratase" "CA5BL|CA5BP" "carbonic anhydrase VB-like|carbonic anhydrase VB pseudogene|carbonic anhydrase VB pseudogene 1" 2004-08-09 2011-02-07 2016-03-18 2016-03-18 340591 ENSG00000186312 OTTHUMG00000021182 BC021816 NR_026551 Q8WTZ4 12477932 PGOHUM00000250066 HGNC:29544 +HGNC:1380 CA6 carbonic anhydrase 6 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 carbonic anhydrase VI Carbonic anhydrases 460 1990-09-10 2016-03-18 2020-09-17 765 ENSG00000131686 OTTHUMG00000001763 uc001apm.5 M57892 NM_001215 "CCDS30578|CCDS57971|CCDS57970" P23280 9691177 MGI:1333786 RGD:70516 114780 4.2.1.1 HGNC:1380 "ENST00000377443.7|NM_001215.4" +HGNC:1381 CA7 carbonic anhydrase 7 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 carbonic anhydrase VII Carbonic anhydrases 460 1988-05-11 2016-03-18 2020-09-17 766 ENSG00000168748 OTTHUMG00000137524 uc002eqi.4 NM_001014435 "CCDS10821|CCDS42173" P43166 1783392 MGI:103100 RGD:1306842 114770 objectId:2749 4.2.1.1 HGNC:1381 "ENST00000338437.7|NM_005182.3" +HGNC:1382 CA8 carbonic anhydrase 8 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 CARP CALS carbonic anhydrase VIII Carbonic anhydrases 460 1993-07-08 2016-03-18 2020-09-17 767 ENSG00000178538 OTTHUMG00000165325 uc003xtz.2 L04656 NM_001321837 CCDS6174 P35219 17219437 MGI:88253 RGD:1304709 114815 327290 HGNC:1382 "ENST00000317995.5|NM_004056.6" HGNC:1382 +HGNC:1383 CA9 carbonic anhydrase 9 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "MN|CAIX" "carbonic dehydratase|RCC-associated protein G250" carbonic anhydrase IX Carbonic anhydrases 460 1998-04-29 2016-03-18 2020-09-17 768 ENSG00000107159 OTTHUMG00000021029 uc003zxo.5 X66839 NM_001216 CCDS6585 Q16790 "8661007|9787087" MGI:2447188 RGD:1306426 603179 objectId:3055 HGNC:1383 "ENST00000378357.9|NM_001216.3" +HGNC:1369 CA10 carbonic anhydrase 10 protein-coding gene gene with protein product Approved 17q21.33-q22 17q21.33-q22 "CARPX|CA-RPX|HUCEP-15" carbonic anhydrase X Carbonic anhydrases 460 1998-07-17 2016-03-18 2020-09-17 56934 ENSG00000154975 OTTHUMG00000177544 uc002ity.4 AF288385 NM_020178 CCDS32684 Q9NS85 "8673298|9921901" MGI:1919855 RGD:2322930 604642 HGNC:1369 "ENST00000451037.7|NM_020178.5" +HGNC:1370 CA11 carbonic anhydrase 11 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "CARP2|CARPX1" "CA-RP XI|carbonic anhydrase-related protein XI|carbonic anhydrase-related protein 2" carbonic anhydrase XI Carbonic anhydrases 460 1998-07-17 2016-03-18 2020-09-17 770 ENSG00000063180 OTTHUMG00000183320 uc002pjz.2 AF067662 NM_001217 CCDS12729 O75493 9878252 MGI:1336193 RGD:735155 604644 HGNC:1370 "ENST00000084798.9|NM_001217.5" +HGNC:1371 CA12 carbonic anhydrase 12 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 HsT18816 carbonic anhydrase XII Carbonic anhydrases 460 1998-07-17 2016-03-18 2020-09-17 771 ENSG00000074410 OTTHUMG00000132881 uc002amc.4 AF051882 NM_001218 "CCDS76767|CCDS10186|CCDS10185" O43570 9636197 MGI:1923709 RGD:1306612 603263 objectId:2747 HGNC:1371 "ENST00000178638.8|NM_001218.5" HGNC:1371 +HGNC:14914 CA13 carbonic anhydrase 13 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 "CAXIII|FLJ37995|MGC59868" carbonic anhydrase XIII Carbonic anhydrases 460 2004-04-28 2016-03-18 2016-03-18 377677 ENSG00000185015 OTTHUMG00000164940 uc003ydg.3 BC052602 NM_198584 CCDS6236 Q8N1Q1 14600151 MGI:1931322 RGD:1560453 611436 objectId:2748 HGNC:14914 "ENST00000321764.4|NM_198584.3" +HGNC:1372 CA14 carbonic anhydrase 14 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 carbonic anhydrase XIV Carbonic anhydrases 460 1999-11-16 2016-03-18 2020-09-17 23632 ENSG00000118298 OTTHUMG00000012549 uc001etx.5 AB025904 NM_012113 CCDS947 Q9ULX7 10512682 MGI:1344341 RGD:1599277 604832 objectId:2598 HGNC:1372 "ENST00000369111.9|NM_012113.3" +HGNC:44364 CA15P1 CA15 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 carbonic anhydrase XV, pseudogene 1 Carbonic anhydrases 460 2012-08-21 2019-01-18 2019-01-18 100996435 ENSG00000241527 OTTHUMG00000157581 NG_052641 16083424 HGNC:44364 +HGNC:14916 CA15P2 CA15 pseudogene 2 pseudogene pseudogene Approved 22q11.21 22q11.21 carbonic anhydrase XV, pseudogene 2 Carbonic anhydrases 460 2012-08-21 2019-01-18 2019-01-18 440795 ENSG00000273907 OTTHUMG00000188357 NG_029357 16083424 HGNC:14916 +HGNC:44363 CA15P3 CA15 pseudogene 3 pseudogene pseudogene Approved 22q11.21 22q11.21 carbonic anhydrase XV, pseudogene 3 Carbonic anhydrases 460 2012-08-21 2019-01-18 2019-01-18 100996556 NG_052640 16083424 HGNC:44363 +HGNC:25834 CAAP1 caspase activity and apoptosis inhibitor 1 protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "FLJ13657|CAAP" conserved anti-apoptotic protein C9orf82 chromosome 9 open reading frame 82 2004-01-29 2012-04-20 2012-04-20 2014-11-19 79886 ENSG00000120159 OTTHUMG00000019706 uc003zqc.4 BC014658 NM_024828 "CCDS55299|CCDS6516" Q9H8G2 21980415 MGI:1915020 RGD:1560251 HGNC:25834 "ENST00000333916.8|NM_024828.4" +HGNC:20292 CAB39 calcium binding protein 39 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "CGI-66|MO25" Armadillo like helical domain containing 1492 2004-07-02 2015-08-26 51719 ENSG00000135932 OTTHUMG00000133220 uc002vqx.4 AF113536 NM_016289 CCDS2478 Q9Y376 MGI:107438 RGD:1306390 612174 HGNC:20292 "ENST00000258418.10|NM_016289.4" +HGNC:20290 CAB39L calcium binding protein 39 like protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "bA103J18.3|FLJ12577|MO2L" calcium binding protein 39-like Armadillo like helical domain containing 1492 2004-04-16 2015-11-30 2016-10-05 81617 ENSG00000102547 OTTHUMG00000016914 uc001vcx.5 AK022639 NM_030925 CCDS9416 Q9H9S4 MGI:1914081 RGD:1308945 612175 HGNC:20290 "ENST00000409308.6|NM_001079670.3" +HGNC:51641 CAB39P1 calcium binding protein 39 pseudogene 1 pseudogene pseudogene Approved 5q12.1 05q12.1 2015-04-08 2015-04-08 106481732 ENSG00000251303 OTTHUMG00000162415 NG_043473 PGOHUM00000300967 HGNC:51641 +HGNC:28678 CABCOCO1 ciliary associated calcium binding coiled-coil 1 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "bA63A2.1|Em:AC022398.2|MGC44593" calcium-binding coiled-coil protein-1 C10orf107 chromosome 10 open reading frame 107 2004-04-16 2017-08-09 2017-08-09 2017-11-28 219621 ENSG00000183346 OTTHUMG00000018295 uc010qik.3 BC041932 NM_173554 CCDS7262 Q8IVU9 26990073 MGI:1920537 RGD:1306739 HGNC:28678 "ENST00000648843.3|NM_001366906.2" +HGNC:24187 CABIN1 calcineurin binding protein 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "KIAA0330|PPP3IN" HIRA histone chaperone complex subunits 1997 2008-09-16 2014-11-18 23523 ENSG00000099991 OTTHUMG00000150797 uc002zzi.1 AF072441 NM_012295 "CCDS13823|CCDS74830" Q9Y6J0 "9655484|9205841" MGI:1298375 RGD:620263 604251 HGNC:24187 "ENST00000263119.10|NM_012295.4" HGNC:24187 +HGNC:25097 CABLES1 Cdk5 and Abl enzyme substrate 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "HsT2563|FLJ35924" 2004-01-09 2016-01-14 91768 ENSG00000134508 OTTHUMG00000179186 uc002kuc.3 BC037218 NM_138375 "CCDS42417|CCDS58615|CCDS42418" Q8TDN4 17982127 MGI:1927065 RGD:1305516 609194 HGNC:25097 "ENST00000256925.12|NM_001100619.3" +HGNC:16143 CABLES2 Cdk5 and Abl enzyme substrate 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "dJ908M14.2|ik3-2" C20orf150 chromosome 20 open reading frame 150 2001-07-17 2004-01-09 2004-01-09 2019-02-18 81928 ENSG00000149679 OTTHUMG00000032912 uc002ycv.3 BC003122 NM_031215 CCDS33503 Q9BTV7 14637168 MGI:2182335 RGD:1310089 618772 HGNC:16143 "ENST00000279101.10|NM_031215.3" +HGNC:1384 CABP1 calcium binding protein 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "calbrain|caldendrin" EF-hand domain containing 863 2000-08-31 2007-03-12 2020-09-17 9478 ENSG00000157782 OTTHUMG00000156794 uc001tyv.5 AF169148 NM_001033677 "CCDS9204|CCDS9205|CCDS31913" Q9NZU7 "9920909|10625670" MGI:1352750 RGD:620385 605563 HGNC:1384 "ENST00000316803.8|NM_001033677.2" +HGNC:55491 CABP1-DT CABP1 divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Divergent transcripts 1990 2021-03-12 2021-03-12 101928300 ENSG00000256008 XR_243033 +HGNC:1385 CABP2 calcium binding protein 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 DFNB93 deafness, autosomal recessive 93 EF-hand domain containing 863 2000-07-28 2021-05-26 51475 ENSG00000167791 OTTHUMG00000168014 uc058eil.1 AF169154 NM_001318496 CCDS8170 Q9NPB3 "10625670|22981119" MGI:1352749 RGD:1563670 607314 316377 HGNC:1385 "ENST00000294288.5|NM_016366.3" HGNC:1385 +HGNC:1386 CABP4 calcium binding protein 4 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 CSNB2B EF-hand domain containing 863 2000-08-31 2021-05-26 57010 ENSG00000175544 OTTHUMG00000168033 uc001olo.4 AC005849 NM_001300895 "CCDS73333|CCDS8166" P57796 "10625670|16960802" MGI:1920910 RGD:1306083 608965 119127 HGNC:1386 "ENST00000325656.7|NM_145200.5" HGNC:1386 +HGNC:13714 CABP5 calcium binding protein 5 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 CaBP3 CABP3 calcium binding protein 3 EF-hand domain containing 863 2000-10-18 2015-08-26 56344 ENSG00000105507 OTTHUMG00000183139 uc002phu.3 AF169159 NM_019855 CCDS12709 Q9NP86 10625670 MGI:1352746 RGD:1308108 607315 HGNC:13714 "ENST00000293255.3|NM_019855.5" +HGNC:20834 CABP7 calcium binding protein 7 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 MGC57793 EF-hand domain containing 863 2003-09-25 2015-08-26 164633 ENSG00000100314 OTTHUMG00000151282 uc003agl.4 BC051805 NM_182527 CCDS13867 Q86V35 11785943 MGI:2183437 RGD:1359269 618759 HGNC:20834 "ENST00000216144.4|NM_182527.3" +HGNC:55758 CABP7-DT CABP7 divergent transcript non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 2021-07-21 2021-07-21 122149303 ENSG00000232396 +HGNC:30710 CABS1 calcium binding protein, spermatid associated 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "NYD-SP26|FLJ32897|CLPH" casein-like phosphoprotein C4orf35 "chromosome 4 open reading frame 35|calcium-binding protein, spermatid-specific 1" 2006-08-29 2011-01-25 2016-02-29 2019-09-26 85438 ENSG00000145309 OTTHUMG00000129405 uc003hff.4 AF380838 NM_033122 CCDS3539 Q96KC9 "19208547|19271754|28381457" MGI:1918227 RGD:620592 618600 HGNC:30710 "ENST00000273936.6|NM_033122.4" +HGNC:15569 CABYR calcium binding tyrosine phosphorylation regulated protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "FSP-2|CBP86|CT88" "fibrousheathin 2|cancer/testis antigen 88" calcium binding tyrosine-(Y)-phosphorylation regulated 2001-05-31 2016-02-12 2016-02-12 26256 ENSG00000154040 OTTHUMG00000037365 uc060nzz.1 AF088868 NM_153770 "CCDS42420|CCDS77166|CCDS11881|CCDS11882|CCDS45840|CCDS11883" O75952 "11820818|17317841|16139264" MGI:1918382 RGD:1585413 612135 HGNC:15569 "ENST00000399496.8|NM_153769.3" +HGNC:31902 CABYRP1 calcium binding tyrosine phosphorylation regulated pseudogene 1 pseudogene pseudogene Approved 3p21.1 03p21.1 CABYRP "calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene|calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene 1" 2005-01-26 2010-03-02 2016-02-12 2016-02-12 266954 ENSG00000242983 OTTHUMG00000158459 NG_002394 PGOHUM00000237632 HGNC:31902 +HGNC:1365 CACFD1 calcium channel flower domain containing 1 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "D9S2135|flower" C9orf7 chromosome 9 open reading frame 7 1999-08-23 2012-03-06 2012-03-06 2020-09-17 11094 ENSG00000160325 OTTHUMG00000020875 uc011mdg.2 NM_017586 "CCDS56592|CCDS6974|CCDS56591|CCDS48051" Q9UGQ2 19737521 MGI:1924317 RGD:1311501 613104 HGNC:1365 "ENST00000316948.9|NM_017586.5" +HGNC:29314 CACHD1 cache domain containing 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 KIAA1573 VWCD1 von Willebrand factor type A and cache domain containing 1 MicroRNA protein coding host genes 1691 2005-07-13 2005-10-11 2005-10-11 2014-11-19 57685 ENSG00000158966 OTTHUMG00000009030 uc001dbo.2 AB046793 NM_020925 CCDS628 Q5VU97 10997877 MGI:2444177 RGD:1310770 HGNC:29314 "ENST00000651257.2|NM_020925.4" +HGNC:1388 CACNA1A calcium voltage-gated channel subunit alpha1 A protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "Cav2.1|EA2|APCA|HPCA|FHM" "CACNL1A4|SCA6|MHP1|MHP" calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Calcium voltage-gated channel alpha1 subunits 1512 1996-06-18 2016-02-04 2021-05-26 773 ENSG00000141837 OTTHUMG00000044590 uc002mwy.5 U79666 NM_000068 "CCDS45998|CCDS45999|CCDS82301|CCDS82302|CCDS82300" O00555 "8825650|16382099|23827678" MGI:109482 RGD:2244 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1A|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1A|LRG_7|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_7.xml" 601011 119129 objectId:532 HGNC:1388 "ENST00000360228.11|NM_001127222.2" HGNC:1388 +HGNC:1389 CACNA1B calcium voltage-gated channel subunit alpha1 B protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "Cav2.2|CACNN" CACNL1A5 calcium channel, voltage-dependent, N type, alpha 1B subunit "EF-hand domain containing|Calcium voltage-gated channel alpha1 subunits" "863|1512" 1995-06-01 2016-02-04 2021-05-26 774 ENSG00000148408 OTTHUMG00000021002 uc064xnz.1 AB209467 NM_000718 "CCDS59523|CCDS59522" Q00975 "8825650|16382099" MGI:88296 RGD:628852 601012 470026 objectId:533 HGNC:1389 "ENST00000371372.6|NM_000718.4" HGNC:1389 +HGNC:56165 CACNA1B-AS1 CACNA1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 Antisense RNAs 1987 2022-01-13 2022-01-13 105376331 NR_132977 +HGNC:1390 CACNA1C calcium voltage-gated channel subunit alpha1 C protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "Cav1.2|CACH2|CACN2|TS|LQT8" "CCHL1A1|CACNL1A1" calcium channel, voltage-dependent, L type, alpha 1C subunit Calcium voltage-gated channel alpha1 subunits 1512 1991-01-30 2016-02-04 2021-05-26 775 ENSG00000151067 OTTHUMG00000150243 uc001qkl.3 AF070589 NM_000719 "CCDS44798|CCDS44799|CCDS44800|CCDS44788|CCDS53734|CCDS44787|CCDS53735|CCDS53736|CCDS53733|CCDS44790|CCDS44791|CCDS44789|CCDS44792|CCDS44793|CCDS44794|CCDS44795|CCDS44796|CCDS44801|CCDS44797" Q13936 "1650913|16382099" MGI:103013 RGD:2245 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|CACNA1C database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=CACNA1C|LRG_334|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_334.xml" 114205 119140 objectId:529 HGNC:1390 "ENST00000399655.6|NM_000719.7" HGNC:1390 +HGNC:40119 CACNA1C-AS1 CACNA1C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 100652846 ENSG00000246627 OTTHUMG00000168139 uc001qkx.3 NR_045725 CACNA1C-AS1 HGNC:40119 +HGNC:40118 CACNA1C-AS2 CACNA1C antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 100874235 ENSG00000256271 OTTHUMG00000168138 uc058juv.1 NR_046579 CACNA1C-AS2 HGNC:40118 +HGNC:40117 CACNA1C-AS3 CACNA1C antisense RNA 3 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 106478964 ENSG00000256769 OTTHUMG00000168137 uc058juq.1 CACNA1C-AS3 +HGNC:40116 CACNA1C-AS4 CACNA1C antisense RNA 4 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 100874234 ENSG00000256025 OTTHUMG00000168136 uc031qfm.2 NR_046578 CACNA1C-AS4 HGNC:40116 +HGNC:41312 CACNA1C-IT1 CACNA1C intronic transcript 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 107984540 ENSG00000256837 OTTHUMG00000168337 uc058jud.1 XR_001749433 CACNA1C-IT1 HGNC:41312 +HGNC:41313 CACNA1C-IT2 CACNA1C intronic transcript 2 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 100874369 ENSG00000256257 OTTHUMG00000168338 uc058jue.1 NR_046768 CACNA1C-IT2 HGNC:41313 +HGNC:41314 CACNA1C-IT3 CACNA1C intronic transcript 3 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 CACNA1C intronic transcript 3 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 100874370 ENSG00000256721 OTTHUMG00000168201 uc031qfn.2 NR_046769 CACNA1C-IT3 HGNC:41314 +HGNC:1391 CACNA1D calcium voltage-gated channel subunit alpha1 D protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "Cav1.3|CACH3|CACN4" "CCHL1A2|CACNL1A2" calcium channel, voltage-dependent, L type, alpha 1D subunit Calcium voltage-gated channel alpha1 subunits 1512 1991-12-12 2016-02-04 2021-05-26 776 ENSG00000157388 OTTHUMG00000158278 uc003dgu.6 AB209171 NM_000720 "CCDS46849|CCDS2872|CCDS46848" Q01668 1664412 MGI:88293 RGD:70973 CACNA1D 114206 327310 objectId:530 HGNC:1391 "ENST00000350061.11|NM_001128840.3" HGNC:1391 +HGNC:1392 CACNA1E calcium voltage-gated channel subunit alpha1 E protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "Cav2.3|BII|CACH6" CACNL1A6 "calcium channel, voltage-dependent, R type, alpha 1E subunit|calcium voltage-gated channel subunit alpha1 subunit E" "EF-hand domain containing|Calcium voltage-gated channel alpha1 subunits" "863|1512" 1994-12-20 2016-02-04 2021-05-26 777 ENSG00000198216 OTTHUMG00000037301 uc001gow.5 AK096563 NM_000721 "CCDS55665|CCDS53443|CCDS55664" Q15878 "8388125|16382099" MGI:106217 RGD:2246 601013 objectId:534 HGNC:1392 "ENST00000367573.7|NM_001205293.3" HGNC:1392 +HGNC:1393 CACNA1F calcium voltage-gated channel subunit alpha1 F protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "Cav1.4|JM8|JMC8|CSNBX2|CORDX3|CSNB2A|OA2" "CSNB2|AIED" "Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)|calcium channel, voltage-dependent, L type, alpha 1F subunit" Calcium voltage-gated channel alpha1 subunits 1512 1997-04-21 2016-02-04 2021-05-26 778 ENSG00000102001 OTTHUMG00000022703 uc004dnb.3 AA019975 NM_005183 "CCDS59166|CCDS59167|CCDS35253" O60840 "9344658|9662400|16382099|12111638|17525176" MGI:1859639 RGD:621535 "Mutations of the L-type Calcium-Channel Gene|http://www.retina-international.org/files/sci-news/cacnamut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1F" 300110 119148 objectId:531 HGNC:1393 "ENST00000323022.10|NM_001256789.3" HGNC:1393 +HGNC:1394 CACNA1G calcium voltage-gated channel subunit alpha1 G protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "Cav3.1|NBR13" calcium channel, voltage-dependent, T type, alpha 1G subunit Calcium voltage-gated channel alpha1 subunits 1512 1999-01-08 2016-02-04 2021-05-26 8913 ENSG00000006283 OTTHUMG00000162180 uc002irk.3 AC004590 NM_018896 "CCDS58576|CCDS58571|CCDS54146|CCDS54145|CCDS45737|CCDS54144|CCDS45730|CCDS58570|CCDS54143|CCDS58569|CCDS54142|CCDS58568|CCDS58567|CCDS45735|CCDS45734|CCDS45736|CCDS58575|CCDS45731|CCDS45732|CCDS58573|CCDS58572|CCDS58566|CCDS45733|CCDS58565|CCDS58574" O43497 "9495342|16382099" MGI:1201678 RGD:68942 604065 460876 objectId:535 HGNC:1394 "ENST00000359106.10|NM_018896.5" HGNC:1394 +HGNC:27377 CACNA1G-AS1 CACNA1G antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 CAS1 CACNA1G antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2018-07-04 253962 ENSG00000250107 OTTHUMG00000162163 uc002irh.3 NR_038439 "26397149|28404955|29963160" CACNA1G-AS1 HGNC:27377 +HGNC:1395 CACNA1H calcium voltage-gated channel subunit alpha1 H protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Cav3.2 calcium channel, voltage-dependent, T type, alpha 1H subunit Calcium voltage-gated channel alpha1 subunits 1512 1999-01-08 2016-02-04 2021-05-26 8912 ENSG00000196557 OTTHUMG00000172992 uc002cks.4 AL031703 NM_001005407 "CCDS45375|CCDS45376" O95180 "9670923|16382099" MGI:1928842 RGD:68943 607904 286549 objectId:536 HGNC:1395 "ENST00000348261.11|NM_021098.3" HGNC:1395 +HGNC:1396 CACNA1I calcium voltage-gated channel subunit alpha1 I protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Cav3.3 calcium channel, voltage-dependent, T type, alpha 1I subunit Calcium voltage-gated channel alpha1 subunits 1512 1999-01-08 2016-02-04 2020-09-17 8911 ENSG00000100346 OTTHUMG00000151096 uc003ayc.5 AF129133 NM_001003406 "CCDS46710|CCDS46711" Q9P0X4 "10454147|16382099" MGI:2178051 RGD:68944 608230 objectId:537 HGNC:1396 "ENST00000402142.4|NM_021096.4" +HGNC:1397 CACNA1S calcium voltage-gated channel subunit alpha1 S protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Cav1.1|hypoPP" "HOKPP|MHS5|CACNL1A3" calcium channel, voltage-dependent, L type, alpha 1S subunit Calcium voltage-gated channel alpha1 subunits 1512 1992-03-27 2016-02-04 2021-05-26 779 ENSG00000081248 OTTHUMG00000035784 uc001gvv.4 L33798 NM_000069 CCDS1407 Q13698 "7916735|16382099" MGI:88294 RGD:70983 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CACNA1S 114208 119157 objectId:528 HGNC:1397 "ENST00000362061.4|NM_000069.3" HGNC:1397 +HGNC:1399 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 protein-coding gene gene with protein product Approved 7q21.11 07q21.11 lncRNA-N3 "CACNL2A|CACNA2|MHS3|LINC01112" "long intergenic non-protein coding RNA 1112|calcium channel, voltage-dependent, alpha 2/delta subunit 1" Calcium voltage-gated channel auxiliary alpha2delta subunits 1514 1992-03-27 2016-02-04 2021-05-26 781 ENSG00000153956 OTTHUMG00000023622 uc003uhr.2 M76559 NM_000722 "CCDS5598|CCDS78253" P54289 8188232 MGI:88295 RGD:2247 LRG_437|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_437.xml 114204 300208 HGNC:1399 "ENST00000356860.8|NM_000722.4" HGNC:1399 +HGNC:40120 CACNA2D1-AS1 CACNA2D1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.11 07q21.11 Antisense RNAs 1987 2019-07-24 2019-07-24 101927356 ENSG00000223770 OTTHUMG00000154779 NR_110076 HGNC:40120 +HGNC:1400 CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 KIAA0558 gene 26 calcium channel, voltage-dependent, alpha 2/delta subunit 2 Calcium voltage-gated channel auxiliary alpha2delta subunits 1514 1999-06-11 2016-02-04 2021-05-26 9254 ENSG00000007402 OTTHUMG00000156887 uc003daq.4 AF040709 NM_006030 "CCDS54588|CCDS33763|CCDS77748|CCDS63647" Q9NY47 MGI:1929813 RGD:631360 607082 470028 HGNC:1400 "ENST00000424201.7|NM_006030.4" HGNC:1400 +HGNC:15460 CACNA2D3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 protein-coding gene gene with protein product Approved 3p21.1-p14.3 03p21.1-p14.3 HSA272268 calcium channel, voltage-dependent, alpha 2/delta subunit 3 Calcium voltage-gated channel auxiliary alpha2delta subunits 1514 2001-07-03 2016-02-04 2018-02-13 55799 ENSG00000157445 OTTHUMG00000158580 uc003dhf.3 AJ272268 NM_018398 CCDS54598 Q8IZS8 11245980 MGI:1338890 RGD:631361 606399 HGNC:15460 "ENST00000474759.6|NM_018398.3" +HGNC:40702 CACNA2D3-AS1 CACNA2D3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 CACNA2D3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874237 ENSG00000243715 OTTHUMG00000158579 uc003dhk.1 NR_046666 CACNA2D3-AS1 HGNC:40702 +HGNC:20202 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 calcium channel, voltage-dependent, alpha 2/delta subunit 4 Calcium voltage-gated channel auxiliary alpha2delta subunits 1514 2003-01-06 2016-02-04 2021-05-26 93589 ENSG00000151062 OTTHUMG00000168111 uc058jsm.1 AF516695 NM_172364 CCDS44785 Q7Z3S7 12181424 MGI:2442632 RGD:1562038 608171 160128 HGNC:20202 "ENST00000382722.10|NM_172364.5" HGNC:20202 +HGNC:1401 CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 protein-coding gene gene with protein product Approved 17q12 17q12 CACNLB1 calcium channel, voltage-dependent, beta 1 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1992-03-27 2016-02-04 2020-09-17 782 ENSG00000067191 OTTHUMG00000133217 uc002hrm.2 NM_000723 "CCDS42311|CCDS45665|CCDS11334" Q02641 "8381767|8395940" MGI:102522 RGD:68382 114207 HGNC:1401 "ENST00000394303.8|NM_000723.5" +HGNC:1402 CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 protein-coding gene gene with protein product Approved 10p12 10p12 "MYSB|CACNLB2" calcium channel, voltage-dependent, beta 2 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1992-03-27 2016-02-04 2021-05-26 783 ENSG00000165995 OTTHUMG00000017764 uc001ipr.3 U95019 NM_000724 "CCDS7129|CCDS41493|CCDS7126|CCDS7125|CCDS41494|CCDS7128|CCDS81442|CCDS7127" Q08289 "9254841|8494331" MGI:894644 RGD:67385 LRG_381|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_381.xml 600003 119164 HGNC:1402 "ENST00000324631.13|NM_201596.3" HGNC:1402 +HGNC:1403 CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 CACNLB3 calcium channel, voltage-dependent, beta 3 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1994-12-09 2016-02-04 2020-09-17 784 ENSG00000167535 OTTHUMG00000170398 uc001rsl.3 NM_000725 "CCDS55821|CCDS55822|CCDS55823|CCDS8769" P54284 8119293 MGI:103307 RGD:2248 601958 HGNC:1403 "ENST00000301050.7|NM_000725.4" +HGNC:1404 CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 EJM4 calcium channel, voltage-dependent, beta 4 subunit "Membrane associated guanylate kinases|Calcium voltage-gated channel auxiliary beta subunits" "904|1515" 1997-04-21 2016-02-04 2021-05-26 785 ENSG00000182389 OTTHUMG00000155091 uc002txy.5 AF038852 NM_000726.3 "CCDS54409|CCDS46428|CCDS46427|CCDS46426|CCDS82523|CCDS82522|CCDS82520|CCDS82521" O00305 9628818 MGI:103301 RGD:68385 601949 119168 HGNC:1404 "ENST00000539935.7|NM_000726.5" HGNC:1404 +HGNC:1405 CACNG1 calcium voltage-gated channel auxiliary subunit gamma 1 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 CACNLG calcium channel, voltage-dependent, gamma subunit 1 Calcium channel auxiliary gamma subunits 1511 1992-03-27 2016-02-04 2020-09-17 786 ENSG00000108878 OTTHUMG00000179553 uc002jfu.4 L07738 NM_000727 CCDS11668 Q06432 8395940 MGI:1206582 RGD:2249 114209 HGNC:1405 "ENST00000226021.5|NM_000727.4" +HGNC:1406 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "stargazin|MGC138502|MGC138504" calcium channel, voltage-dependent, gamma subunit 2 Calcium channel auxiliary gamma subunits 1511 1999-06-11 2016-02-04 2021-05-26 10369 ENSG00000166862 OTTHUMG00000030612 uc003aps.3 AF096322 NM_001379051 CCDS13931 Q9Y698 MGI:1316660 RGD:71095 LRG_1159|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1159.xml 602911 293085 HGNC:1406 "ENST00000300105.7|NM_006078.5" HGNC:1406 +HGNC:55682 CACNG2-DT CACNG2 divergent transcript non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Divergent transcripts 1990 2021-07-01 2021-07-01 105373021 ENSG00000234688 NR_134623 +HGNC:1407 CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 calcium channel, voltage-dependent, gamma subunit 3 Calcium channel auxiliary gamma subunits 1511 1999-06-11 2016-02-04 2020-09-17 10368 ENSG00000006116 OTTHUMG00000131651 uc002dmf.4 AF131911 NM_006539 CCDS10620 O60359 "10221464|10493829" MGI:1859165 RGD:628803 606403 HGNC:1407 "ENST00000005284.4|NM_006539.4" +HGNC:1408 CACNG4 calcium voltage-gated channel auxiliary subunit gamma 4 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "MGC11138|MGC24983" calcium channel, voltage-dependent, gamma subunit 4 Calcium channel auxiliary gamma subunits 1511 2000-01-20 2016-02-04 2020-09-17 27092 ENSG00000075461 OTTHUMG00000179550 uc002jft.3 AH008289 NM_014405 CCDS11667 Q9UBN1 10613843 MGI:1859167 RGD:628804 606404 HGNC:1408 "ENST00000262138.4|NM_014405.4" +HGNC:1409 CACNG5 calcium voltage-gated channel auxiliary subunit gamma 5 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 calcium channel, voltage-dependent, gamma subunit 5 Calcium channel auxiliary gamma subunits 1511 2000-01-20 2016-02-04 2020-09-17 27091 ENSG00000075429 OTTHUMG00000166468 uc010wqi.3 AF148220 "NM_014404|NM_145811" CCDS11665 Q9UF02 10613843 MGI:2157946 RGD:628805 606405 HGNC:1409 "ENST00000533854.6|NM_145811.3" +HGNC:13625 CACNG6 calcium voltage-gated channel auxiliary subunit gamma 6 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 calcium channel, voltage-dependent, gamma subunit 6 Calcium channel auxiliary gamma subunits 1511 2000-10-24 2016-02-04 2016-10-05 59285 ENSG00000130433 OTTHUMG00000064907 uc002qct.4 AF288386 NM_031897 "CCDS12871|CCDS12870" Q9BXT2 11170751 MGI:1859168 RGD:628806 606898 HGNC:13625 "ENST00000252729.7|NM_145814.2" +HGNC:13626 CACNG7 calcium voltage-gated channel auxiliary subunit gamma 7 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 calcium channel, voltage-dependent, gamma subunit 7 Calcium channel auxiliary gamma subunits 1511 2000-10-24 2016-02-04 2016-10-05 59284 ENSG00000105605 OTTHUMG00000064852 uc061clt.1 AF288387 NM_001384801 CCDS12868 P62955 11170751 MGI:1932374 RGD:628807 606899 HGNC:13626 "ENST00000391767.6|NM_031896.5" +HGNC:13628 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 calcium channel, voltage-dependent, gamma subunit 8 "Calcium channel auxiliary gamma subunits|MicroRNA protein coding host genes" "1511|1691" 2000-10-24 2016-02-04 2016-10-05 59283 ENSG00000142408 OTTHUMG00000064908 uc061clu.1 AF288388 NM_031895 CCDS33104 Q8WXS5 11170751 MGI:1932376 RGD:628808 606900 HGNC:13628 "ENST00000270458.4|NM_031895.6" +HGNC:29938 CACTIN cactin, spliceosome C complex subunit protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "NY-REN-24|fSAPc" "NY REN 24 antigen|functional spliceosome-associated protein c|cactin homolog (Drosophila)" C19orf29 chromosome 19 open reading frame 29 "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2004-04-05 2012-06-08 2012-06-08 2020-04-30 58509 ENSG00000105298 OTTHUMG00000180808 uc002lyh.4 BC019848 NM_001080543 CCDS45920 Q8WUQ7 "8619474|9110174|21429463|20829348" MGI:1917562 RGD:1563634 618536 HGNC:29938 "ENST00000429344.7|NM_001080543.2" +HGNC:31391 CACTIN-AS1 CACTIN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 "C19orf29OS|C19orf29-AS1" "chromosome 19 open reading frame 29 opposite strand|C19orf29 antisense RNA 1 (non-protein coding)|C19orf29 antisense RNA 1" Antisense RNAs 1987 2004-04-05 2012-08-16 2012-08-16 2014-11-18 404665 ENSG00000226800 OTTHUMG00000180807 uc021umw.2 AK097999 NR_038865 Q8N1I8 CACTIN-AS1 HGNC:31391 +HGNC:23727 CACUL1 CDK2 associated cullin domain 1 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "FLJ40409|MGC33215|CAC1" Cdk-Associated Cullin1 C10orf46 "chromosome 10 open reading frame 46|CDK2-associated, cullin domain 1" 2003-12-07 2012-06-12 2016-02-01 2016-10-05 143384 ENSG00000151893 OTTHUMG00000019138 uc001lds.2 AK097728 NM_153810 CCDS41570 Q86Y37 19829063 MGI:1926082 RGD:1308127 618764 HGNC:23727 "ENST00000369151.8|NM_153810.5" +HGNC:30423 CACYBP calcyclin binding protein protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "SIP|S100A6BP" 2004-11-03 2016-10-05 27101 ENSG00000116161 OTTHUMG00000034941 uc001gkj.2 BC022352 NM_014412 "CCDS1315|CCDS30942" Q9HB71 "11389839|12421809" MGI:1270839 RGD:1303146 606186 HGNC:30423 "ENST00000367679.7|NM_014412.3" +HGNC:45122 CACYBPP1 calcyclin binding protein pseudogene 1 pseudogene pseudogene Approved 10q23.1 10q23.1 2013-02-15 2013-02-15 100420043 ENSG00000225928 OTTHUMG00000018643 NG_025452 PGOHUM00000238569 HGNC:45122 +HGNC:45123 CACYBPP2 calcyclin binding protein pseudogene 2 pseudogene pseudogene Approved 2q32.1 02q32.1 2013-02-15 2013-02-15 644877 ENSG00000177855 OTTHUMG00000153760 NG_021541 PGOHUM00000240449 HGNC:45123 +HGNC:45124 CACYBPP3 calcyclin binding protein pseudogene 3 pseudogene pseudogene Approved 6q25.3 06q25.3 2013-02-15 2013-02-15 106480809 ENSG00000219188 OTTHUMG00000015911 NG_044234 PGOHUM00000243431 HGNC:45124 +HGNC:1424 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase protein-coding gene gene with protein product Approved 2p23.3 02p23.3 GATD4 Glutamine amidotransferase class 1 domain containing 1408 2001-06-22 2020-09-17 790 ENSG00000084774 OTTHUMG00000097070 uc002rji.4 D78586 NM_001306079 "CCDS77396|CCDS1742" P27708 "8619816|2565865" MGI:1916969 RGD:1588606 114010 457009 M38.972 "2.1.3.2|3.5.2.-" HGNC:1424 "ENST00000264705.9|NM_004341.5" HGNC:1424 +HGNC:5951 CADM1 cell adhesion molecule 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "NECL2|ST17|BL2|SYNCAM|IGSF4A|Necl-2|SYNCAM1|RA175" nectin-like 2 "TSLC1|IGSF4" "tumor suppressor in lung cancer 1|immunoglobulin superfamily, member 4" "V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "590|592|1855" 1998-11-02 2007-02-07 2007-02-07 2016-10-05 23705 ENSG00000182985 OTTHUMG00000168202 uc001ppi.5 AB017563 NM_014333 "CCDS73398|CCDS53711|CCDS73397|CCDS73399|CCDS8373" Q9BY67 10610705 MGI:1889272 RGD:1310999 605686 HGNC:5951 "ENST00000331581.11|NM_001301043.2" HGNC:5951 +HGNC:56177 CADM1-AS1 CADM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Antisense RNAs 1987 2022-01-14 2022-01-14 105369507 ENSG00000256315 NR_135102 +HGNC:29849 CADM2 cell adhesion molecule 2 protein-coding gene gene with protein product Approved 3p12.1 03p12.1 "NECL3|Necl-3|SynCAM2" nectin-like 3 IGSF4D immunoglobulin superfamily, member 4D "V-set domain containing|C2-set domain containing|I-set domain containing|MicroRNA protein coding host genes|Nectins and nectin-like molecules" "590|592|593|1691|1855" 2004-02-24 2007-02-07 2007-02-07 2016-10-05 253559 ENSG00000175161 OTTHUMG00000158990 uc003dql.4 AF538973 NM_153184 "CCDS33792|CCDS54614|CCDS54613" Q8N3J6 MGI:2442722 RGD:1305678 609938 HGNC:29849 "ENST00000383699.8|NM_001167675.2" +HGNC:41248 CADM2-AS1 CADM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p12.1 03p12.1 CADM2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874038 ENSG00000239519 OTTHUMG00000158987 uc062lrq.1 CADM2-AS1 HGNC:41248 +HGNC:41247 CADM2-AS2 CADM2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p12.1 03p12.1 CADM2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874037 ENSG00000241648 OTTHUMG00000158991 uc031saq.1 NR_046752 CADM2-AS2 HGNC:41247 +HGNC:17601 CADM3 cell adhesion molecule 3 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "BIgR|FLJ10698|TSLL1|NECL1|SynCAM3|Necl-1" nectin-like 1 IGSF4B immunoglobulin superfamily, member 4B "V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "590|592|1855" 2004-02-24 2007-02-07 2007-02-07 2016-10-05 57863 ENSG00000162706 OTTHUMG00000037177 uc001ftk.3 AY046418 NM_021189 "CCDS1182|CCDS44251" Q8N126 11536053 MGI:2137858 RGD:1307035 609743 HGNC:17601 "ENST00000368125.9|NM_001127173.3" +HGNC:40812 CADM3-AS1 CADM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.2 01q23.2 CTA-134P22.2 Antisense RNAs 1987 2014-02-01 2014-11-19 100131825 ENSG00000225670 OTTHUMG00000037178 NR_037870 CADM3-AS1 HGNC:40812 +HGNC:30825 CADM4 cell adhesion molecule 4 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "TSLL2|Necl-4|SynCAM4" nectin-like 4 IGSF4C immunoglobulin superfamily, member 4C "V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "590|592|1855" 2004-02-24 2007-02-07 2007-02-07 2016-10-05 199731 ENSG00000105767 OTTHUMG00000182735 uc002oxc.2 AF363368 NM_145296 CCDS12627 Q8NFZ8 11536053 MGI:2449088 RGD:1304722 609744 HGNC:30825 "ENST00000222374.3|NM_145296.2" +HGNC:1426 CADPS calcium dependent secretion activator protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "CAPS|KIAA1121|CAPS1|UNC-31" "Ca++-dependent secretion activator|Ca2+ dependent secretion activator" Pleckstrin homology domain containing 682 1999-07-21 2016-06-08 2020-09-17 8618 ENSG00000163618 OTTHUMG00000158651 uc003dll.3 U36448 "NM_003716|NM_183393|NM_183394" "CCDS2898|CCDS2899|CCDS46858" Q9ULU8 1516133 MGI:1350922 RGD:708573 604667 HGNC:1426 "ENST00000383710.9|NM_003716.4" +HGNC:16018 CADPS2 calcium dependent secretion activator 2 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 CAPS2 "Ca++-dependent activator protein for secretion 2|Ca2+ dependent secretion activator 2" "Pleckstrin homology domain containing|C2 domain containing" "682|823" 2001-07-12 2016-06-08 2016-06-08 93664 ENSG00000081803 OTTHUMG00000157093 uc064hnl.1 NM_017954 "CCDS55158|CCDS47691" Q86UW7 MGI:2443963 RGD:1559440 609978 HGNC:16018 "ENST00000449022.7|NM_017954.11" +HGNC:21622 CAGE1 cancer antigen 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "bA69L16.7|CT95" cancer/testis antigen 95 CTAG3 cancer/testis antigen 3 2003-08-29 2005-01-27 2005-01-26 2015-08-24 285782 ENSG00000164304 OTTHUMG00000014200 uc063lrf.1 BC026194 NM_175745 "CCDS47367|CCDS54965|CCDS54964" Q8TC20 12531476 MGI:1918463 RGD:1306102 608304 HGNC:21622 "ENST00000502583.6|NM_001170692.2" +HGNC:42860 CAHM colon adenocarcinoma hypermethylated non-coding RNA RNA, long non-coding Approved 6q26 06q26 LINC00468 long intergenic non-protein coding RNA 468 colon adenocarcinoma hypermethylated (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2011-09-07 2018-05-16 2018-05-16 100526820 ENSG00000270419 OTTHUMG00000175945 uc021zib.2 BG168587 NR_037593 24799664 RGD:10059728 615930 CAHM HGNC:42860 +HGNC:1434 CALB1 calbindin 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 CALB calbindin 1, 28kDa EF-hand domain containing 863 2001-06-22 2015-11-09 2020-09-17 793 ENSG00000104327 OTTHUMG00000134314 uc003yel.2 NM_004929 CCDS6251 P05937 MGI:88248 RGD:69340 114050 HGNC:1434 "ENST00000265431.7|NM_004929.4" +HGNC:1435 CALB2 calbindin 2 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 CAL2 calretinin calbindin 2, 29kDa (calretinin) EF-hand domain containing 863 1990-09-10 2008-05-19 2020-09-17 794 ENSG00000172137 OTTHUMG00000137589 uc002faa.6 X56667 NM_001740 CCDS10899 P22676 1906795 MGI:101914 RGD:620981 114051 HGNC:1435 "ENST00000302628.9|NM_001740.5" +HGNC:1437 CALCA calcitonin related polypeptide alpha protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "CGRP|CGRP-alpha" calcitonin CALC1 calcitonin 1 Neuropeptides 1902 1986-01-01 2016-02-22 2021-04-13 796 ENSG00000110680 OTTHUMG00000159731 uc001mlt.2 "X00356|M64486" NM_001741 "CCDS7819|CCDS31432" "P01258|P06881" 6546550 MGI:2151253 RGD:2254 LRG_13|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_13.xml 114130 ligandId:681 HGNC:1437 "ENST00000331587.9|NM_001741.3" +HGNC:1438 CALCB calcitonin related polypeptide beta protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "FLJ30166|CGRP-II" CALC2 calcitonin 2 Neuropeptides 1902 1986-01-01 2016-02-22 2020-09-17 797 ENSG00000175868 OTTHUMG00000164629 uc009ygr.2 NM_000728 CCDS7820 P10092 MGI:2151254 RGD:620997 114160 ligandId:682 HGNC:1438 "ENST00000324229.11|NM_000728.4" +HGNC:29306 CALCOCO1 calcium binding and coiled-coil domain 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "KIAA1536|calphoglin|Cocoa" "coiled-coil leucine zipper coactivator 1|inorganic pyrophosphatase activator" 2005-05-17 2015-09-11 57658 ENSG00000012822 OTTHUMG00000170095 uc001sef.4 AL136895 NM_020898 "CCDS44908|CCDS8864" Q9P1Z2 "10819331|11230166" MGI:1914738 RGD:619812 HGNC:29306 "ENST00000550804.6|NM_020898.3" +HGNC:29912 CALCOCO2 calcium binding and coiled-coil domain 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "MGC17318|NDP52" 2006-01-27 2019-08-20 10241 ENSG00000136436 OTTHUMG00000160505 uc002iof.4 BC004130 NM_005831 "CCDS58561|CCDS58558|CCDS11538|CCDS58560|CCDS58559" Q13137 "7540613|26506893" MGI:1343177 RGD:1559974 604587 HGNC:29912 "ENST00000258947.8|NM_005831.5" +HGNC:1439 CALCP calcitonin pseudogene pseudogene pseudogene Approved 11p15.2 11p15.2 CALC3 1988-08-10 2013-09-19 798 ENSG00000253179 OTTHUMG00000164573 X07965 NG_001088 2898385 HGNC:1439 +HGNC:1440 CALCR calcitonin receptor protein-coding gene gene with protein product Approved 7q21.3 07q21.3 CTR "Calcitonin receptors|MicroRNA protein coding host genes" "265|1691" 1993-03-23 2021-04-13 799 ENSG00000004948 OTTHUMG00000023599 uc003umw.3 L00587 NM_001742 CCDS5631 P30988 1331173 MGI:101950 RGD:621001 LRG_1037|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1037.xml 114131 objectId:43 HGNC:1440 "ENST00000426151.7|NM_001742.4" HGNC:1440 +HGNC:16709 CALCRL calcitonin receptor like receptor protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "CGRPR|CRLR" calcitonin receptor-like Calcitonin receptors 265 2001-10-02 2015-11-12 2016-10-05 10203 ENSG00000064989 OTTHUMG00000132636 uc061qml.1 U17473 NM_005795 CCDS2293 Q16602 "7818539|8626685" MGI:1926944 RGD:2255 114190 objectId:47 HGNC:16709 "ENST00000392370.8|NM_005795.6" +HGNC:55863 CALCRL-AS1 CALCRL and TFPI antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.1 02q32.1 Antisense RNAs 1987 2021-09-03 2021-09-03 105373786 ENSG00000224063 XR_001739821 +HGNC:1441 CALD1 caldesmon 1 protein-coding gene gene with protein product Approved 7q33 07q33 "CDM|H-CAD|L-CAD|h-CD" 1992-07-20 2022-02-09 800 ENSG00000122786 OTTHUMG00000155407 uc003vrz.4 M64110 NM_033138 "CCDS5834|CCDS47716|CCDS47717|CCDS5835|CCDS5836" Q05682 1885618 MGI:88250 RGD:2256 114213 HGNC:1441 "ENST00000361675.7|NM_033138.4" +HGNC:23494 CALHM1 calcium homeostasis modulator 1 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 FAM26C family with sequence similarity 26, member C Calcium homeostasis modulators 1478 2004-05-27 2008-07-02 2008-07-02 2017-07-14 255022 ENSG00000185933 OTTHUMG00000018991 uc001kxe.3 BC036208 NM_001001412 CCDS7550 Q8IU99 18585350 MGI:3643383 RGD:1564891 612234 HGNC:23494 "ENST00000329905.6|NM_001001412.4" +HGNC:23493 CALHM2 calcium homeostasis modulator family member 2 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 FAM26B "family with sequence similarity 26, member B|calcium homeostasis modulator 2" Calcium homeostasis modulators 1478 2004-05-27 2008-07-02 2017-07-14 2017-07-14 51063 ENSG00000138172 OTTHUMG00000018990 uc001kxb.4 BC000039 NM_015916 CCDS7549 Q9HA72 18585350 MGI:1919941 RGD:1308276 612235 HGNC:23493 "ENST00000260743.10|NM_015916.5" +HGNC:23458 CALHM3 calcium homeostasis modulator 3 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 bA225H22.7 FAM26A family with sequence similarity 26, member A Calcium homeostasis modulators 1478 2004-06-02 2008-07-02 2008-07-02 2017-07-14 119395 ENSG00000183128 OTTHUMG00000018989 uc001kxg.4 BC043367 NM_182494 CCDS44476 Q86XJ0 18585350 MGI:3645665 RGD:1560215 618263 HGNC:23458 "ENST00000369783.4|NM_001129742.2" +HGNC:21094 CALHM4 calcium homeostasis modulator family member 4 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 FLJ32239 "C6orf78|FAM26D" "chromosome 6 open reading frame 78|family with sequence similarity 26, member D|family with sequence similarity 26 member D" Calcium homeostasis modulators 1478 2003-05-19 2017-07-14 2017-07-14 2017-07-14 221301 ENSG00000164451 OTTHUMG00000015443 uc063qxx.1 AK056801 NM_153036 "CCDS5109|CCDS59032|CCDS59031" Q5JW98 MGI:2685489 RGD:1595701 HGNC:21094 "ENST00000368596.4|NM_001366078.2" +HGNC:21568 CALHM5 calcium homeostasis modulator family member 5 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "dJ493F7.3|MGC45451" "C6orf188|FAM26E" "chromosome 6 open reading frame 188|family with sequence similarity 26, member E|family with sequence similarity 26 member E" Calcium homeostasis modulators 1478 2003-06-24 2017-07-14 2017-07-14 2017-07-14 254228 ENSG00000178033 OTTHUMG00000015442 uc003pwy.4 BC032556 NM_153711 CCDS5108 Q8N5C1 MGI:2143897 RGD:1310405 HGNC:21568 "ENST00000368599.4|NM_153711.5" +HGNC:33391 CALHM6 calcium homeostasis modulator family member 6 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "RP1-93H18.5|OTTHUMP00000017061|OTTHUMP00000017062|dJ93H18.5|INAM" IFN regulatory factor 3-dependent NK-activating molecule "C6orf187|FAM26F" "chromosome 6 open reading frame 187|family with sequence similarity 26, member F|family with sequence similarity 26 member F" Calcium homeostasis modulators 1478 2007-03-19 2017-07-14 2017-07-14 2017-07-14 441168 ENSG00000188820 OTTHUMG00000015438 uc003pwv.5 AF086130 NM_001010919 "CCDS34519|CCDS64506" Q5R3K3 "27645024|27784631" MGI:2443082 RGD:1304835 617305 HGNC:33391 "ENST00000368605.3|NM_001010919.3" +HGNC:40971 CALHM6-AS1 CALHM6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22.1 06q22.1 RP1-93H18.6 Antisense RNAs 1987 2020-01-10 2020-01-21 116435295 ENSG00000244158 OTTHUMG00000159342 NR_174951 31877407 +HGNC:1442 CALM1 calmodulin 1 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "CAMI|PHKD|DD132" "prepro-calmodulin 1|phosphorylase kinase subunit delta" CALML2 calmodulin 1 (phosphorylase kinase, delta) "Receptor ligands|EF-hand domain containing" "542|863" 1991-06-05 2016-06-27 2021-05-26 801 ENSG00000198668 OTTHUMG00000171044 uc001xyl.3 NM_001363669 "CCDS86421|CCDS9892" P0DP23 6385987 MGI:88251 RGD:2257 114180 317387 ligandId:2351 2.7.11.19 HGNC:1442 "ENST00000356978.9|NM_006888.6" HGNC:1442 +HGNC:1443 CALM1P1 calmodulin 1 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 CALML1 "calmodulin-like 1|calmodulin 1 (phosphorylase kinase, delta) pseudogene 1" 1995-11-02 2011-03-18 2016-06-27 2016-06-27 802 ENSG00000223467 OTTHUMG00000021979 U12435 NG_001089 7925473 HGNC:1443 +HGNC:1444 CALM1P2 calmodulin 1 pseudogene 2 pseudogene pseudogene Approved 7p11.2 07p11.2 TCAG_1643085 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 1995-11-02 2016-06-27 2016-06-27 804 ENSG00000230564 OTTHUMG00000156129 U12475 NG_001090 7925473 PGOHUM00000232696 HGNC:1444 +HGNC:1445 CALM2 calmodulin 2 protein-coding gene gene with protein product Approved 2p21 02p21 "PHKD|CAMII" "prepro-calmodulin 2|phosphorylase kinase subunit delta" calmodulin 2 (phosphorylase kinase, delta) "Receptor ligands|EF-hand domain containing" "542|863" 1991-06-04 2016-06-27 2021-05-26 805 ENSG00000143933 OTTHUMG00000128850 uc002rvt.2 NM_001743 CCDS1832 P0DP24 MGI:103250 RGD:2258 114182 422270 ligandId:2351 HGNC:1445 "ENST00000272298.12|NM_001743.6" HGNC:1445 +HGNC:1446 CALM2P1 calmodulin 2 pseudogene 1 pseudogene pseudogene Approved 17q24.3 17q24.3 1991-10-09 2020-04-20 100128390 ENSG00000267170 OTTHUMG00000180352 X13907 NG_002716 2717417 PGOHUM00000294542 HGNC:1446 +HGNC:1447 CALM2P2 calmodulin 2 pseudogene 2 pseudogene pseudogene Approved 10q22.1 10q22.1 1991-09-13 2011-03-18 806 ENSG00000229097 OTTHUMG00000018401 X52955 NG_001091 1999288 PGOHUM00000238832 HGNC:1447 +HGNC:1448 CALM2P3 calmodulin 2 pseudogene 3 pseudogene pseudogene Approved 13q14.11 13q14.11 1991-09-13 2010-11-24 807 ENSG00000215482 OTTHUMG00000016785 X52956 NG_004858 1999288 PGOHUM00000248379 HGNC:1448 +HGNC:39661 CALM2P4 calmodulin 2 pseudogene 4 pseudogene pseudogene Approved 13q32.2 13q32.2 2011-03-18 2011-03-18 643193 ENSG00000233662 OTTHUMG00000017253 NG_011335 PGOHUM00000248475 HGNC:39661 +HGNC:1449 CALM3 calmodulin 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 PHKD "prepro-calmodulin 3|phosphorylase kinase subunit delta" calmodulin 3 (phosphorylase kinase, delta) "Receptor ligands|EF-hand domain containing" "542|863" 1991-06-05 2016-06-27 2021-05-26 808 ENSG00000160014 OTTHUMG00000133517 uc002pew.4 NM_001329921 "CCDS33061|CCDS86782|CCDS86783" P0DP25 MGI:103249 RGD:2259 LRG_1082|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1082.xml 114183 437180 ligandId:2351 HGNC:1449 "ENST00000291295.14|NM_005184.4" HGNC:1449 +HGNC:1452 CALML3 calmodulin like 3 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 CLP calmodulin-like 3 EF-hand domain containing 863 1993-07-27 2015-11-23 2020-09-17 810 ENSG00000178363 OTTHUMG00000017597 uc001iie.2 X13461 NM_005185 CCDS7069 P27482 8476923 MGI:1917655 RGD:1305499 114184 HGNC:1452 "ENST00000315238.3|NM_005185.4" +HGNC:44682 CALML3-AS1 CALML3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Antisense RNAs 1987 2012-12-04 2019-07-17 100132159 ENSG00000205488 OTTHUMG00000168090 uc001iid.2 "DA220455|DA770774" NR_120496 31298313 CALML3-AS1 HGNC:44682 +HGNC:18445 CALML4 calmodulin like 4 protein-coding gene gene with protein product Approved 15q23 15q23 "MGC4809|NY-BR-20" calmodulin-like 4 EF-hand domain containing 863 2004-06-25 2015-11-23 2016-10-05 91860 ENSG00000129007 OTTHUMG00000133287 uc002ard.5 AF308287 NM_033429 CCDS66808 Q96GE6 MGI:1922850 RGD:1583918 HGNC:18445 "ENST00000467889.3|NM_033429.3" +HGNC:18180 CALML5 calmodulin like 5 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 CLSP calmodulin-like skin protein calmodulin-like 5 EF-hand domain containing 863 2003-11-10 2015-11-23 2015-11-23 51806 ENSG00000178372 OTTHUMG00000017598 uc001iic.3 AF172852 NM_017422 CCDS7068 Q9NZT1 10777582 MGI:1931464 RGD:1310047 605183 HGNC:18180 "ENST00000380332.5|NM_017422.5" +HGNC:24193 CALML6 calmodulin like 6 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 CAGLP calmodulin-like 6 EF-hand domain containing 863 2005-01-24 2015-11-23 2015-11-23 163688 ENSG00000169885 OTTHUMG00000000943 uc001aih.1 AF490905 NM_138705 "CCDS30566|CCDS81255" Q8TD86 610171 470030 HGNC:24193 "ENST00000307786.8|NM_138705.4" +HGNC:13248 CALN1 calneuron 1 protein-coding gene gene with protein product Approved 7q11.22 07q11.22 CABP8 calcium-binding protein CABP8 EF-hand domain containing 863 2001-04-26 2017-09-14 83698 ENSG00000183166 OTTHUMG00000023787 uc003twc.5 AF282250 NM_031468 "CCDS5541|CCDS47603" Q9BXU9 11286509 MGI:2155987 RGD:1305843 607176 HGNC:13248 "ENST00000395275.7|NM_031468.4" +HGNC:1455 CALR calreticulin protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "RO|SSA|cC1qR|CRT|FLJ26680" "Sicca syndrome antigen A (autoantigen Ro; calreticulin)|autoantigen Ro" MicroRNA protein coding host genes 1691 1990-09-10 2021-04-13 811 ENSG00000179218 OTTHUMG00000180574 uc002mvu.3 M84739 NM_004343 CCDS12288 P27797 2365822 MGI:88252 RGD:620288 LRG_828|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_828.xml CALR 109091 391684 HGNC:1455 "ENST00000316448.10|NM_004343.4" +HGNC:20407 CALR3 calreticulin 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "CRT2|FLJ25355|MGC26577|CT93" "cancer/testis antigen 93|calsperin" 2003-02-04 2021-04-13 125972 ENSG00000269058 OTTHUMG00000152571 uc002ned.3 AK058084 NM_145046 CCDS12344 Q96L12 12384296 MGI:1920566 RGD:1309243 LRG_422|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_422.xml 611414 264440 HGNC:20407 "ENST00000269881.8|NM_145046.5" HGNC:20407 +HGNC:35456 CALR4P calreticulin 4, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2010-03-12 2020-08-14 441884 ENSG00000227742 OTTHUMG00000008233 NR_161259 20210993 MGI:2140435 HGNC:35456 +HGNC:1458 CALU calumenin protein-coding gene gene with protein product Approved 7q32.1 07q32.1 CREC family 2042 1997-07-25 2020-09-17 813 ENSG00000128595 OTTHUMG00000158274 uc003vnq.4 AF013759 NM_001219 "CCDS47703|CCDS56507|CCDS5805|CCDS56506|CCDS56508" O43852 9598325 MGI:1097158 RGD:620383 603420 470032 HGNC:1458 "ENST00000249364.9|NM_001219.5" +HGNC:17938 CALY calcyon neuron specific vesicular protein protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "CALCYON|NSG3" DRD1IP "dopamine receptor D1 interacting protein|calcyon neuron-specific vesicular protein" 2004-04-20 2008-01-16 2016-02-01 2017-06-23 50632 ENSG00000130643 OTTHUMG00000019310 uc001lmo.3 AF225903 NM_015722 CCDS7678 Q9NYX4 "10698743|17623072|25376768" MGI:1915816 RGD:621719 604647 HGNC:17938 "ENST00000252939.9|NM_015722.4" +HGNC:1459 CAMK1 calcium/calmodulin dependent protein kinase I protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "CaMKI|CaMKI-alpha" Calmodulin dependent protein kinases 1630 1998-10-16 2016-04-06 2020-09-17 8536 ENSG00000134072 OTTHUMG00000128419 uc003bst.4 L41816 NM_003656 CCDS2582 Q14012 7641687 MGI:1098535 RGD:629473 604998 objectId:1952 2.7.11.17 HGNC:1459 "ENST00000256460.8|NM_003656.5" +HGNC:19341 CAMK1D calcium/calmodulin dependent protein kinase ID protein-coding gene gene with protein product Approved 10p13 10p13 CKLiK calcium/calmodulin-dependent protein kinase ID "Calmodulin dependent protein kinases|MicroRNA protein coding host genes" "1630|1691" 2003-11-05 2015-12-04 2015-12-04 57118 ENSG00000183049 OTTHUMG00000017683 uc001ilp.5 AF286366 NM_020397 "CCDS7091|CCDS7092" Q8IU85 11050006 MGI:2442190 RGD:1560691 607957 objectId:1953 2.7.11.17 HGNC:19341 "ENST00000619168.5|NM_153498.4" +HGNC:14585 CAMK1G calcium/calmodulin dependent protein kinase IG protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "VWS1|CLICKIII|dJ272L16.1" calcium/calmodulin-dependent protein kinase IG Calmodulin dependent protein kinases 1630 2001-03-21 2016-02-03 2016-02-03 57172 ENSG00000008118 OTTHUMG00000036361 uc001hhe.4 NM_020439 CCDS1486 Q96NX5 12637513 MGI:2388073 RGD:621800 614994 objectId:1954 2.7.11.17 HGNC:14585 "ENST00000361322.3|NM_020439.3" +HGNC:1460 CAMK2A calcium/calmodulin dependent protein kinase II alpha protein-coding gene gene with protein product Approved 5q32 05q32 "KIAA0968|CaMKIINalpha|CaMKIIα" "CaM-kinase II alpha chain|calcium/calmodulin-dependent protein kinase II alpha-B subunit|CaM kinase II alpha subunit|CaMK-II alpha subunit|calcium/calmodulin-dependent protein kinase type II alpha chain" CAMKA calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2021-05-26 815 ENSG00000070808 OTTHUMG00000134281 uc003lru.3 AB023185 NM_015981 "CCDS43387|CCDS43386" Q9UQM7 "10231032|3475713" MGI:88256 RGD:2261 114078 objectId:1555 2.7.11.17 HGNC:1460 "ENST00000671881.1|NM_015981.4" HGNC:1460 +HGNC:1461 CAMK2B calcium/calmodulin dependent protein kinase II beta protein-coding gene gene with protein product Approved 7p13 07p13 "CAM2|CAMK2|CaMKIIβ" "CaM-kinase II beta chain|calcium/calmodulin-dependent protein kinase type II beta chain|CaM kinase II beta subunit|proline rich calmodulin-dependent protein kinase" CAMKB calcium/calmodulin-dependent protein kinase (CaM kinase) II beta Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2021-05-26 816 ENSG00000058404 OTTHUMG00000023491 uc010kyc.3 U50358 NM_172084 "CCDS43573|CCDS5489|CCDS5486|CCDS5487|CCDS5485|CCDS5484|CCDS5488|CCDS5483" Q13554 MGI:88257 RGD:2262 607707 objectId:1556 2.7.11.17 HGNC:1461 "ENST00000395749.7|NM_001220.5" HGNC:1461 +HGNC:1462 CAMK2D calcium/calmodulin dependent protein kinase II delta protein-coding gene gene with protein product Approved 4q26 04q26 CAMKD calcium/calmodulin-dependent protein kinase (CaM kinase) II delta Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2020-09-17 817 ENSG00000145349 OTTHUMG00000132910 uc003ibk.3 U50361 NM_001221 "CCDS47127|CCDS3704|CCDS43263|CCDS54797|CCDS82950|CCDS82949|CCDS82948|CCDS3703" Q13557 MGI:1341265 RGD:2263 607708 objectId:1558 2.7.11.17 HGNC:1462 "ENST00000511664.6|NM_001321571.2" +HGNC:1463 CAMK2G calcium/calmodulin dependent protein kinase II gamma protein-coding gene gene with protein product Approved 10q22.2 10q22.2 CAMKG calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma Calmodulin dependent protein kinases 1630 1993-11-24 2016-04-06 2021-05-26 818 ENSG00000148660 OTTHUMG00000018492 uc001jvr.3 U81554 NM_172169 "CCDS73153|CCDS7336|CCDS7337|CCDS7338" Q13555 8287681 MGI:88259 RGD:621802 602123 objectId:1557 2.7.11.17 HGNC:1463 "ENST00000423381.6|NM_001367534.1" HGNC:1463 +HGNC:56057 CAMK2G-AS1 CAMK2G antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 Antisense RNAs 1987 2021-12-09 2021-12-09 123706515 ENSG00000224195 +HGNC:24190 CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 CaMKIINalpha 2005-06-10 2016-04-06 2019-02-18 55450 ENSG00000162545 OTTHUMG00000002837 uc001bdh.4 AY204901 NM_018584 CCDS207 Q7Z7J9 25296973 MGI:1913509 RGD:708430 614986 HGNC:24190 "ENST00000375078.4|NM_018584.6" +HGNC:24197 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 CaM-KIIN 2005-06-10 2016-04-06 2016-04-06 94032 ENSG00000163888 OTTHUMG00000156821 uc003fnj.2 AY037149 NM_033259 CCDS3257 Q96S95 "11444830|9724800" MGI:1920297 RGD:708411 608721 HGNC:24197 "ENST00000296238.4|NM_033259.3" +HGNC:1464 CAMK4 calcium/calmodulin dependent protein kinase IV protein-coding gene gene with protein product Approved 5q22.1 05q22.1 "CaMK-GR|CaMKIV" "brain Ca++-calmodulin-dependent protein kinase type IV|calcium/calmodulin-dependent protein kinase type IV catalytic chain|CAM kinase IV|CAM kinase- GR" Calmodulin dependent protein kinases 1630 1989-05-24 2016-06-08 2021-05-26 814 ENSG00000152495 OTTHUMG00000128792 uc003kpf.4 D30742 NM_001744 CCDS4103 Q16566 2536634 MGI:88258 RGD:2264 114080 objectId:1955 2.7.11.17 HGNC:1464 "ENST00000282356.9|NM_001744.6" +HGNC:1469 CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "DKFZp761M0423|CAMKKA|MGC34095" calcium/calmodulin-dependent protein kinase kinase alpha calcium/calmodulin-dependent protein kinase kinase 1, alpha 1999-08-27 2016-06-08 2020-09-17 84254 ENSG00000004660 OTTHUMG00000090725 uc002fwu.4 AL136576 "NM_032294|NM_172206|NM_172207" "CCDS86560|CCDS11038|CCDS11039" Q8N5S9 11230166 MGI:1891766 RGD:62023 611411 objectId:1956 2.7.11.17 HGNC:1469 "ENST00000348335.7|NM_032294.3" +HGNC:1470 CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "CAMKK|KIAA0787|CAMKKB|MGC15254" calcium/calmodulin-dependent protein kinase kinase beta calcium/calmodulin-dependent protein kinase kinase 2, beta 1999-08-27 2016-06-08 2020-09-17 10645 ENSG00000110931 OTTHUMG00000169156 uc001tzv.4 AF101264 NM_172226 "CCDS9217|CCDS9219|CCDS53837|CCDS9218|CCDS58283|CCDS9216|CCDS44999" Q96RR4 9662074 MGI:2444812 RGD:620092 615002 objectId:1957 2.7.11.17 HGNC:1470 "ENST00000404169.8|NM_001270485.2" +HGNC:26276 CAMKMT calmodulin-lysine N-methyltransferase protein-coding gene gene with protein product Approved 2p21 02p21 CLNMT CaM KMT C2orf34 chromosome 2 open reading frame 34 7BS protein lysine methyltransferases 2056 2005-04-26 2011-03-10 2011-03-10 2015-08-24 79823 ENSG00000143919 OTTHUMG00000128761 uc002rum.4 NM_024766 CCDS1820 Q7Z624 20975703 MGI:1920832 RGD:1310453 609559 244716 2.1.1.60 HGNC:26276 "ENST00000378494.8|NM_024766.5" +HGNC:28788 CAMKV CaM kinase like vesicle associated protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "MGC8407|VACAMKL" CaM kinase-like vesicle-associated Calmodulin dependent protein kinases 1630 2005-03-04 2016-04-27 2018-06-04 79012 ENSG00000164076 OTTHUMG00000158288 uc003cxt.2 BC017363 NM_024046 "CCDS33762|CCDS82776" Q8NCB2 27796283 MGI:2384296 RGD:621488 614993 objectId:1958 HGNC:28788 "ENST00000477224.6|NM_024046.5" +HGNC:1471 CAMLG calcium modulating ligand protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "CAML|GET2" "calcium-modulating cyclophilin ligand|calcium-signal modulating cyclophilin ligand|cyclophilin B-binding protein" Guided entry of tail-anchored proteins complex subunits 1912 1994-02-08 2020-09-17 819 ENSG00000164615 OTTHUMG00000129116 uc003kzt.4 AF068179.1 NM_001745 CCDS4178 P49069 "8824814|24392163" MGI:104728 RGD:69297 601118 HGNC:1471 "ENST00000297156.4|NM_001745.4" +HGNC:1472 CAMP cathelicidin antimicrobial peptide protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CAP18|FALL39|FALL-39|LL37" Receptor ligands 542 1996-12-12 2016-10-05 820 ENSG00000164047 OTTHUMG00000133526 uc003csj.3 BC055089 NM_004345 CCDS2762 P49913 7624374 MGI:108443 RGD:1559878 600474 ligandId:5527 HGNC:1472 "ENST00000652295.2|NM_004345.5" +HGNC:19946 CAMSAP1 calmodulin regulated spectrin associated protein 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "FLJ31228|DKFZp434F195" calmodulin regulated spectrin-associated protein 1 CAMSAP family 1812 2003-12-09 2015-11-17 2022-01-11 157922 ENSG00000130559 OTTHUMG00000020918 uc004cgr.5 AJ519841 NM_015447 CCDS35176 Q5T5Y3 "18756519|24706919" MGI:3036242 RGD:1565022 613774 HGNC:19946 "ENST00000389532.9|NM_015447.4" +HGNC:55648 CAMSAP1-DT CAMSAP1 divergent transcript non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 Divergent transcripts 1990 2021-06-28 2021-06-28 107987141 ENSG00000238058 XR_001746979 +HGNC:29188 CAMSAP2 calmodulin regulated spectrin associated protein family member 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 KIAA1078 CAMSAP1L1 "calmodulin regulated spectrin-associated protein 1-like 1|calmodulin regulated spectrin-associated protein family, member 2" CAMSAP family 1812 2005-05-19 2011-08-18 2015-11-17 2016-10-05 23271 ENSG00000118200 OTTHUMG00000035740 uc001gvk.4 AB029001 NM_203459 "CCDS72998|CCDS72999|CCDS1404" Q08AD1 "15897902|19508979" MGI:1922434 RGD:1310950 613775 HGNC:29188 "ENST00000358823.7|NM_203459.4" +HGNC:29307 CAMSAP3 calmodulin regulated spectrin associated protein family member 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "Nezha|PPP1R80" protein phosphatase 1, regulatory subunit 80 KIAA1543 "KIAA1543|calmodulin regulated spectrin-associated protein family, member 3" "Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes|CAMSAP family" "694|1691|1812" 2004-02-12 2011-08-18 2015-11-17 2016-11-11 57662 ENSG00000076826 OTTHUMG00000182096 uc002mgv.5 AB040976 NM_001080429 "CCDS42489|CCDS45947" Q9P1Y5 "11318610|10819331|19041755|19508979" MGI:1916947 RGD:1597412 612685 HGNC:29307 "ENST00000160298.9|NM_020902.2" +HGNC:18806 CAMTA1 calmodulin binding transcription activator 1 protein-coding gene gene with protein product Approved 1p36.31-p36.23 01p36.31-p36.23 KIAA0833 "IPT domain containing|Calmodulin binding transcription activators " "1752|1941" 2002-06-20 2021-05-26 23261 ENSG00000171735 OTTHUMG00000001212 uc001aoi.3 AB020640 NM_015215 "CCDS55574|CCDS30576|CCDS55575|CCDS85922" Q9Y6Y1 11925432 MGI:2140230 RGD:1562703 CAMTA1 611501 317761 HGNC:18806 "ENST00000303635.12|NM_015215.4" HGNC:18806 +HGNC:40856 CAMTA1-AS1 CAMTA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 Antisense RNAs 1987 2019-07-24 2019-07-24 101928836 ENSG00000225126 OTTHUMG00000001220 XR_946925 HGNC:40856 +HGNC:40855 CAMTA1-AS2 CAMTA1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 Antisense RNAs 1987 2019-07-24 2019-07-24 102725193 ENSG00000237728 OTTHUMG00000001219 NR_146199 HGNC:40855 +HGNC:53020 CAMTA1-DT CAMTA1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.31 01p36.31 lncCAMTA1 Divergent transcripts 1990 2017-08-03 2018-07-20 110841581 ENSG00000237436 OTTHUMG00000001213 NR_149049 27669232 HGNC:53020 +HGNC:41446 CAMTA1-IT1 CAMTA1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 CAMTA1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 100874340 ENSG00000237402 OTTHUMG00000001217 uc057bxd.1 CAMTA1-IT1 HGNC:41446 +HGNC:18807 CAMTA2 calmodulin binding transcription activator 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 KIAA0909 "MicroRNA protein coding host genes|IPT domain containing|Calmodulin binding transcription activators " "1691|1752|1941" 2002-06-20 2016-10-05 23125 ENSG00000108509 OTTHUMG00000099417 uc002gah.3 AB020716 NM_015099 "CCDS54073|CCDS11063|CCDS54071|CCDS54072" O94983 11925432 MGI:2135957 RGD:1311296 611508 HGNC:18807 "ENST00000348066.8|NM_015099.4" +HGNC:55342 CAMTA2-AS1 CAMTA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Antisense RNAs 1987 2020-11-04 2020-11-04 101927979 ENSG00000262678 XR_001752769 +HGNC:30688 CAND1 cullin associated and neddylation dissociated 1 protein-coding gene gene with protein product Approved 12q14.3-q15 12q14.3-q15 "TIP120A|DKFZp434M1414|KIAA0829|TIP120" TBP interacting protein cullin-associated and neddylation-dissociated 1 Armadillo like helical domain containing 1492 2005-05-24 2016-04-27 2018-02-13 55832 ENSG00000111530 OTTHUMG00000169060 uc001stn.3 NM_018448 CCDS8977 Q86VP6 "10048485|8954946" MGI:1261820 RGD:620479 607727 HGNC:30688 "ENST00000545606.6|NM_018448.5" +HGNC:30689 CAND2 cullin associated and neddylation dissociated 2 (putative) protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "TIP120B|KIAA0667|Tp120b" TBP interacting protein cullin-associated and neddylation-dissociated 2 (putative) Armadillo like helical domain containing 1492 2005-05-24 2016-04-27 2016-11-11 23066 ENSG00000144712 OTTHUMG00000155397 uc003bxk.3 NM_001162499 "CCDS54554|CCDS43053" O75155 "9734811|10441524" MGI:1914338 RGD:620480 610403 HGNC:30689 "ENST00000456430.6|NM_001162499.2" +HGNC:19721 CANT1 calcium activated nucleotidase 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "SHAPY|SCAN-1" "Soluble Ca-Activated Nucleotidase, isozyme 1|apyrase 1 homolog (C. lectularius)" 2004-02-17 2004-10-15 2004-10-12 2021-05-26 124583 ENSG00000171302 OTTHUMG00000177570 uc002jwj.4 AJ312208 NM_138793 CCDS11760 Q8WVQ1 "12167635|19853239" MGI:1923275 RGD:628743 CANT1 613165 218036 HGNC:19721 "ENST00000392446.10|NM_001159773.2" HGNC:19721 +HGNC:1473 CANX calnexin protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "CNX|IP90|P90" major histocompatibility complex class I antigen-binding protein p88 1993-07-12 2020-09-17 821 ENSG00000127022 OTTHUMG00000130910 uc003mkl.4 L18887 NM_001024649 CCDS4447 P27824 "1326756|8136357" MGI:88261 RGD:2266 114217 HGNC:1473 "ENST00000247461.9|NM_001746.4" +HGNC:20040 CAP1 cyclase associated actin cytoskeleton regulatory protein 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 CAP "CAP, adenylate cyclase-associated protein 1 (yeast)|adenylate cyclase associated protein 1" 2003-07-17 2017-05-17 2017-05-17 10487 ENSG00000131236 OTTHUMG00000004493 uc001cey.5 L12168 NM_006367 "CCDS41309|CCDS81304" Q01518 "1406678|8761950" MGI:88262 RGD:620309 617801 HGNC:20040 "ENST00000372805.8|NM_006367.4" +HGNC:31134 CAP1P1 CAP1 pseudogene 1 pseudogene pseudogene Approved 3p12.3 03p12.3 2007-08-17 2020-04-20 401076 ENSG00000240809 OTTHUMG00000158861 NG_027734 PGOHUM00000299482 HGNC:31134 +HGNC:31970 CAP1P2 CAP1 pseudogene 2 pseudogene pseudogene Approved 10q11.21 10q11.21 2007-08-17 2020-04-20 399748 ENSG00000232004 OTTHUMG00000018035 NG_022144 HGNC:31970 +HGNC:20039 CAP2 cyclase associated actin cytoskeleton regulatory protein 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 CAP, adenylate cyclase-associated protein, 2 (yeast) 2003-05-12 2017-05-17 2017-05-17 10486 ENSG00000112186 OTTHUMG00000014311 uc003ncb.4 BC008481 NM_001363533 "CCDS4539|CCDS87369|CCDS87368" P40123 "7962207|8761950" MGI:1914502 RGD:620310 618385 HGNC:20039 "ENST00000229922.7|NM_006366.3" HGNC:20039 +HGNC:20142 CAP2P1 cyclase associated actin cytoskeleton regulatory protein 2 pseudogene 1 pseudogene pseudogene Approved 14q31.3 14q31.3 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 2003-05-12 2017-05-26 2017-05-26 353163 ENSG00000259151 OTTHUMG00000170969 BF062148 NG_002772 PGOHUM00000247881 HGNC:20142 +HGNC:1474 CAPG capping actin protein, gelsolin like protein-coding gene gene with protein product Approved 2p11.2 02p11.2 MCP macrophage capping protein AFCP capping protein (actin filament), gelsolin-like Gelsolin/villins 950 1993-12-14 2016-01-18 2020-09-17 822 ENSG00000042493 OTTHUMG00000130183 uc061lgh.1 M94345 NM_001747 "CCDS58715|CCDS1974" P40121 "1322908|12754261" MGI:1098259 RGD:1311724 153615 HGNC:1474 "ENST00000263867.9|NM_001747.4" +HGNC:1476 CAPN1 calpain 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "muCANP|muCL|CANP|CANPL1" calpain 1, (mu/I) large subunit "EF-hand domain containing|Calpains" "863|975" 1989-06-30 2016-01-19 2021-05-26 823 ENSG00000014216 OTTHUMG00000165614 uc009yqd.3 X04366 NM_001198868 CCDS44644 P07384 "3017764|2209092" MGI:88263 RGD:2267 114220 C02.001 objectId:2336 3.4.22.52 HGNC:1476 "ENST00000279247.11|NM_005186.4" HGNC:1476 +HGNC:56068 CAPN1-AS1 CAPN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Antisense RNAs 1987 2021-12-13 2021-12-13 728975 ENSG00000254614 NR_145677 +HGNC:1479 CAPN2 calpain 2 protein-coding gene gene with protein product Approved 1q41 01q41 "mCANP|CANPml|CANPL2" calpain 2, (m/II) large subunit "EF-hand domain containing|Calpains" "863|975" 1989-06-30 2016-01-19 2020-09-17 824 ENSG00000162909 OTTHUMG00000037376 uc001hob.5 J04700 NM_001748 "CCDS31035|CCDS53478" P17655 "2852952|2539381" MGI:88264 RGD:2268 114230 C02.002 objectId:2337 3.4.22.52 HGNC:1479 "ENST00000295006.6|NM_001748.5" +HGNC:1480 CAPN3 calpain 3 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "CANP3|p94|nCL-1" "LGMD2|LGMD2A" "EF-hand domain containing|Calpains" "863|975" 1989-06-30 2015-07-03 2021-05-26 825 ENSG00000092529 OTTHUMG00000130619 uc001zpp.2 X85030 NM_000070 "CCDS32207|CCDS10086|CCDS45245|CCDS45246|CCDS10085" P20807 "2555341|7720071" MGI:107437 RGD:2269 "Calpain-3; Limb-Girdle Muscular Dystrophy, type 2A|http://www.LOVD.nl/CAPN3|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=CAPN3|LRG_849|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_849.xml" 114240 119172 C02.004 3.4.22.52 HGNC:1480 "ENST00000397163.8|NM_000070.3" HGNC:1480 +HGNC:1482 CAPN5 calpain 5 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "nCL-3|HTRA3|ADNIV" VRNI vitreoretinopathy, neovascular inflammatory "C2 domain containing|Calpains" "823|975" 1997-11-05 2021-05-26 726 ENSG00000149260 OTTHUMG00000165192 uc001oxx.4 NM_004055 CCDS8248 O15484 "9503024|9367857|23055945" MGI:1100859 RGD:620084 602537 331692 C02.011 HGNC:1482 "ENST00000648180.1|NM_004055.5" HGNC:1482 +HGNC:1483 CAPN6 calpain 6 protein-coding gene gene with protein product Approved Xq23 Xq23 "CAPNX|CalpM|CANPX" "C2 domain containing|Calpains" "823|975" 1997-11-05 2020-09-17 827 ENSG00000077274 OTTHUMG00000022203 uc004epc.3 AF029232 NM_014289 CCDS14555 Q9Y6Q1 "9503024|9339374" MGI:1100850 RGD:70960 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CAPN6 300146 C02.971 HGNC:1483 "ENST00000324068.2|NM_014289.4" +HGNC:1484 CAPN7 calpain 7 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 PalBH "calpain like protease|homolog of Aspergillus Nidulans PALB" Calpains 975 1999-12-02 2020-09-17 23473 ENSG00000131375 OTTHUMG00000129863 uc003bzn.4 AB028639 NM_014296 CCDS2624 Q9Y6W3 "8163008|10051333" MGI:1338030 RGD:1304855 606400 C02.029 HGNC:1484 "ENST00000253693.7|NM_014296.3" +HGNC:1485 CAPN8 calpain 8 protein-coding gene gene with protein product Approved 1q41 01q41 nCL-2 calpain 8 (nCL-2) "EF-hand domain containing|Calpains" "863|975" 1998-09-25 2007-02-21 2020-09-17 388743 ENSG00000203697 OTTHUMG00000037378 uc031vow.1 NM_001143962 CCDS73038 A6NHC0 "7690035|8889549" MGI:2181366 RGD:620085 618777 C02.007 HGNC:1485 "ENST00000366872.10|NM_001143962.2" +HGNC:1486 CAPN9 calpain 9 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "nCL-4|GC36" novel calpain large subunit-4 calpain 9 (nCL-4) "EF-hand domain containing|Calpains" "863|975" 1998-09-25 2004-11-11 2020-09-17 10753 ENSG00000135773 OTTHUMG00000037779 uc001htz.2 AF022799 NM_006615 "CCDS1586|CCDS81431|CCDS31053" O14815 "9524069|10835488" MGI:1920897 RGD:70965 606401 C02.006 HGNC:1486 "ENST00000271971.7|NM_006615.3" +HGNC:1477 CAPN10 calpain 10 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 Calpains 975 1998-09-25 2021-05-26 11132 ENSG00000142330 OTTHUMG00000133358 uc002vzk.2 AF089088 NM_023083 "CCDS42838|CCDS33420" Q9HC96 "11017071|11018080" MGI:1344392 RGD:69354 605286 C02.018 HGNC:1477 "ENST00000391984.7|NM_023083.4" +HGNC:48839 CAPN10-DT CAPN10 divergent transcript non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 locus959 locus 959 CAPN10-AS1 CAPN10 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-06-18 2018-03-22 2018-03-22 2018-03-22 101752400 ENSG00000260942 OTTHUMG00000170676 AK024254 NR_103792 23382218 CAPN10-AS1 HGNC:48839 +HGNC:1478 CAPN11 calpain 11 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "EF-hand domain containing|Calpains" "863|975" 1999-08-19 2020-09-17 11131 ENSG00000137225 OTTHUMG00000014758 uc003owt.1 AJ242832 NM_007058 CCDS47436 Q9UMQ6 10409436 MGI:1352490 RGD:1302946 604822 C02.013 HGNC:1478 "ENST00000398776.2|NM_007058.4" +HGNC:13249 CAPN12 calpain 12 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "EF-hand domain containing|Calpains" "863|975" 2004-10-20 2014-11-19 147968 ENSG00000182472 OTTHUMG00000182525 uc002ojd.2 BC014027 NM_144691 CCDS12519 Q6ZSI9 MGI:1891369 RGD:1307341 608839 C02.017 HGNC:13249 "ENST00000328867.9|NM_144691.4" HGNC:13249 +HGNC:16663 CAPN13 calpain 13 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 FLJ23523 Calpains 975 2004-07-02 2016-10-05 92291 ENSG00000162949 OTTHUMG00000152053 uc061hvv.1 NM_144575 CCDS46252 Q6MZZ7 11675017 MGI:2685789 RGD:1562682 610228 C02.020 HGNC:16663 "ENST00000295055.12|NM_144575.3" +HGNC:16664 CAPN14 calpain 14 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 "EF-hand domain containing|Calpains" "863|975" 2004-11-26 2016-10-05 440854 ENSG00000214711 OTTHUMG00000152039 uc010yms.3 AC015980 NM_001145122 CCDS46254 A8MX76 11675017 610229 C02.021 HGNC:16664 "ENST00000403897.4|NM_001145122.2" +HGNC:11182 CAPN15 calpain 15 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 SOLH "small optic lobes (Drosophila) homolog|small optic lobes homolog (Drosophila)" "Zinc fingers RANBP2-type |Calpains|MicroRNA protein coding host genes" "89|975|1691" 1998-08-26 2013-06-27 2013-06-27 2021-05-26 6650 ENSG00000103326 OTTHUMG00000119059 U85647 NM_005632 CCDS10410 O75808 9722942 MGI:1355075 RGD:1306514 603267 HGNC:11182 "ENST00000219611.7|NM_005632.3" +HGNC:1481 CAPNS1 calpain small subunit 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "CANP|CANPS|30K|CDPS" CAPN4 EF-hand domain containing 863 1989-06-30 2001-08-10 2016-02-10 2020-09-17 826 ENSG00000126247 OTTHUMG00000160811 uc002odj.4 X04106 NM_001003962 CCDS12489 P04632 "3024120|3016651" MGI:88266 RGD:2270 114170 3.4.22.52 HGNC:1481 "ENST00000246533.8|NM_001749.4" +HGNC:39562 CAPNS1P1 calpain small subunit 1 pseudogene 1 pseudogene pseudogene Approved 1p22.2 01p22.2 2011-03-09 2016-02-10 2016-02-10 391053 ENSG00000215874 OTTHUMG00000010125 NG_022791 PGOHUM00000244788 HGNC:39562 +HGNC:16371 CAPNS2 calpain small subunit 2 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "MGC12536|MGC14804" EF-hand domain containing 863 2004-07-19 2016-02-10 2020-01-06 84290 ENSG00000256812 OTTHUMG00000167812 uc002eid.2 AY052551 NM_032330 CCDS54010 Q96L46 11853546 MGI:1916793 RGD:1583620 616767 HGNC:16371 "ENST00000457326.3|NM_032330.3" +HGNC:6743 CAPRIN1 cell cycle associated protein 1 protein-coding gene gene with protein product Approved 11p13 11p13 "caprin-1|RNG105" cytoplasmic activation/proliferation-associated protein-1 "M11S1|GPIAP1" "membrane component, chromosome 11, surface marker 1|GPI-anchored membrane protein 1" 1995-12-18 2007-03-27 2007-03-27 2021-05-26 4076 ENSG00000135387 OTTHUMG00000166248 uc001mvh.2 BC001731 NM_005898 "CCDS31453|CCDS31454" Q14444 "7657653|16177067|17210633|14764709|15471883" MGI:1858234 RGD:1305707 601178 HGNC:6743 "ENST00000341394.9|NM_005898.5" HGNC:6743 +HGNC:21259 CAPRIN2 caprin family member 2 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "EEG1|FLJ22569|FLJ11391|caprin-2|RNG140" C1QDC1 C1q domain containing 1 C1q domain containing 1641 2003-06-02 2007-03-27 2007-03-27 2016-10-05 65981 ENSG00000110888 OTTHUMG00000169185 uc001rjh.2 AY074491 NM_023925 "CCDS55816|CCDS8720|CCDS41766" Q6IMN6 "11347906|14764709" MGI:2448541 RGD:1593683 610375 HGNC:21259 +HGNC:1487 CAPS calcyphosine protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CAPS1|MGC126562" "calcyphosine 1|thyroid protein p24" EF-hand domain containing 863 1990-05-31 2016-07-18 828 ENSG00000105519 OTTHUMG00000180619 uc002mdt.4 X97966 NM_004058 "CCDS12156|CCDS45934" Q13938 "9224948|2265558" 114212 HGNC:1487 "ENST00000588776.8|NM_004058.5" +HGNC:16471 CAPS2 calcyphosine 2 protein-coding gene gene with protein product Approved 12q21.1-q21.2 12q21.1-q21.2 calcyphosphine 2 EF-hand domain containing 863 2002-09-16 2005-05-09 2018-02-13 84698 ENSG00000180881 OTTHUMG00000152787 uc001sxk.4 AF251056 NM_001286547 "CCDS66424|CCDS9008|CCDS73497" Q9BXY5 11846421 MGI:2441980 RGD:1309826 607724 HGNC:16471 HGNC:16471 +HGNC:40769 CAPS2-AS1 CAPS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.1 12q21.1 Antisense RNAs 1987 2019-07-24 2019-07-24 107983975 ENSG00000254451 OTTHUMG00000165409 XR_001749212 HGNC:40769 +HGNC:28375 CAPSL calcyphosine like protein-coding gene gene with protein product Approved 5p13.2 05p13.2 MGC26610 calcyphosine-like EF-hand domain containing 863 2005-05-09 2016-01-06 2022-01-11 133690 ENSG00000152611 OTTHUMG00000131109 uc003jju.2 BC017586 NM_144647 CCDS3912 Q8WWF8 31186450 MGI:1922818 RGD:1308776 618799 HGNC:28375 "ENST00000651391.1|NM_001042625.2" +HGNC:1488 CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "capping protein (actin filament) muscle Z-line, alpha 1|capping actin protein of muscle Z-line alpha subunit 1" Dynactin subunits 943 1994-05-26 2018-04-23 2020-09-17 829 ENSG00000116489 OTTHUMG00000011769 uc001ecj.2 U56637 NM_006135 CCDS30805 P52907 "7665558|9119363" MGI:106227 RGD:1587438 601580 HGNC:1488 "ENST00000263168.4|NM_006135.3" +HGNC:1489 CAPZA1P1 CAPZA1 pseudogene 1 pseudogene pseudogene Approved Xq21.31 Xq21.31 CAPZA1P "capping protein (actin filament) muscle Z-line, alpha 1 pseudogene|capping actin protein of muscle Z-line alpha subunit 1 pseudogene|CAPZA1 pseudogene" 2000-05-02 2019-10-16 2019-10-16 2019-10-16 53338 ENSG00000230956 OTTHUMG00000021949 AF284769 NG_001277 11499681 PGOHUM00000304744 HGNC:1489 +HGNC:54563 CAPZA1P2 CAPZA1 pseudogene 2 pseudogene pseudogene Approved 2q24.2 02q24.2 2019-10-16 2020-01-21 100422294 ENSG00000225369 NG_023623 +HGNC:54564 CAPZA1P3 CAPZA1 pseudogene 3 pseudogene pseudogene Approved Xq13.1 Xq13.1 2019-10-16 2020-01-21 645938 ENSG00000213698 NG_022610 +HGNC:54565 CAPZA1P4 CAPZA1 pseudogene 4 pseudogene pseudogene Approved 7q32.3 07q32.3 2019-10-16 2020-01-21 100130704 ENSG00000233263 NG_022548 +HGNC:54566 CAPZA1P5 CAPZA1 pseudogene 5 pseudogene pseudogene Approved 7q35 07q35 2019-10-16 2020-01-21 100422324 ENSG00000270729 NG_026521 +HGNC:1490 CAPZA2 capping actin protein of muscle Z-line subunit alpha 2 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "CAPZ|CAPPA2" F-actin capping protein alpha-2 subunit "capping protein (actin filament) muscle Z-line, alpha 2|capping actin protein of muscle Z-line alpha subunit 2" Dynactin subunits 943 1994-05-26 2018-04-23 2020-09-17 830 ENSG00000198898 OTTHUMG00000023185 uc003vil.4 NM_006136 CCDS5768 P47755 MGI:106222 RGD:1549770 601571 HGNC:1490 "ENST00000361183.8|NM_006136.3" HGNC:1490 +HGNC:24205 CAPZA3 capping actin protein of muscle Z-line subunit alpha 3 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "Gsg3|CAPPA3" "capping protein (actin filament) muscle Z-line, alpha 3|capping actin protein of muscle Z-line alpha subunit 3" Dynactin subunits 943 2004-01-26 2018-04-23 2018-04-23 93661 ENSG00000177938 OTTHUMG00000169001 uc001rdy.4 AB053259 NM_033328 CCDS8681 Q96KX2 12029070 MGI:106221 RGD:2271 608722 HGNC:24205 "ENST00000317658.5|NM_033328.3" +HGNC:1491 CAPZB capping actin protein of muscle Z-line subunit beta protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "capping protein (actin filament) muscle Z-line, beta|capping actin protein of muscle Z-line beta subunit" Dynactin subunits 943 1994-05-26 2018-04-23 2021-05-26 832 ENSG00000077549 OTTHUMG00000002556 uc001bce.5 U03271 NM_001206540 "CCDS55579|CCDS41277|CCDS72717|CCDS72718" P47756 MGI:104652 RGD:1359099 601572 HGNC:1491 "ENST00000264202.8|NM_004930.5" +HGNC:54734 CAPZBP1 CAPZB pseudogene 1 pseudogene pseudogene Approved 2q12.1 02q12.1 2019-12-18 2020-01-21 644265 ENSG00000231723 NG_023294 +HGNC:16394 CARD6 caspase recruitment domain family member 6 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 CINCIN1 caspase recruitment domain family, member 6 Caspase recruitment domain containing 959 2001-08-13 2015-11-18 2015-11-18 84674 ENSG00000132357 OTTHUMG00000094775 uc003jmg.4 AF356193 NM_032587 CCDS3935 Q9BX69 12775719 MGI:3032959 RGD:1305805 609986 HGNC:16394 "ENST00000254691.10|NM_032587.4" +HGNC:17057 CARD8 caspase recruitment domain family member 8 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "TUCAN|KIAA0955|CARDINAL|NDPP|Dakar" caspase recruitment domain family, member 8 Caspase recruitment domain containing 959 2003-12-03 2015-11-18 2016-04-25 22900 ENSG00000105483 OTTHUMG00000165047 uc061ark.1 AB023172 NM_014959 "CCDS12712|CCDS54289|CCDS54287|CCDS54288" Q9Y2G2 "10231032|11408476" RGD:1593294 609051 S79.001 HGNC:17057 "ENST00000651546.1|NM_001184900.3" +HGNC:51408 CARD8-AS1 CARD8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 "LOC100505812|AC008392.1" Antisense RNAs 1987 2014-11-20 2018-06-13 100505812 ENSG00000268001 OTTHUMG00000183194 NR_040599 "25392693|26147888|29881308" CARD8-AS1 HGNC:51408 +HGNC:16391 CARD9 caspase recruitment domain family member 9 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 caspase recruitment domain family, member 9 Caspase recruitment domain containing 959 2001-08-13 2015-11-18 2021-05-26 64170 ENSG00000187796 OTTHUMG00000020925 uc004chg.4 AF311287 NM_052813 "CCDS48057|CCDS6997" Q9H257 11053425 MGI:2685628 RGD:708370 LRG_178|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_178.xml 607212 225286 HGNC:16391 "ENST00000371732.10|NM_052813.5" HGNC:16391 +HGNC:16422 CARD10 caspase recruitment domain family member 10 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "CARMA3|BIMP1" caspase recruitment domain family, member 10 "Membrane associated guanylate kinases|Caspase recruitment domain containing" "904|959" 2002-09-19 2015-11-18 2015-11-18 29775 ENSG00000100065 OTTHUMG00000150592 uc062dxz.1 AF086324 NM_014550 CCDS13948 Q9BWT7 "11259443|11356195" MGI:2146012 RGD:1304949 607209 HGNC:16422 "ENST00000251973.10|NM_014550.4" +HGNC:16393 CARD11 caspase recruitment domain family member 11 protein-coding gene gene with protein product Approved 7p22.2 07p22.2 "CARMA1|BIMP3" "card-maguk protein 1|bcl10-interacting maguk protein 3" caspase recruitment domain family, member 11 "Membrane associated guanylate kinases|Caspase recruitment domain containing|PDZ domain containing|CBM complex" "904|959|1220|1405" 2001-08-13 2015-11-18 2021-05-26 84433 ENSG00000198286 OTTHUMG00000023023 uc003smv.5 AF322641 NM_032415 CCDS5336 Q9BXL7 "11278692|11356195" MGI:1916978 RGD:2323211 LRG_729|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_729.xml CARD11 607210 333084 HGNC:16393 "ENST00000396946.9|NM_032415.7" HGNC:16393 +HGNC:40766 CARD11-AS1 CARD11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p22.2 07p22.2 Antisense RNAs 1987 2019-07-24 2019-07-24 101927256 ENSG00000237286 OTTHUMG00000152115 XR_926993 HGNC:40766 +HGNC:16446 CARD14 caspase recruitment domain family member 14 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "CARMA2|BIMP2" PSORS2 "psoriasis susceptibility 2|caspase recruitment domain family, member 14" "Membrane associated guanylate kinases|Caspase recruitment domain containing|PDZ domain containing" "904|959|1220" 2002-09-19 2015-11-18 2021-05-26 79092 ENSG00000141527 OTTHUMG00000177549 uc031res.2 AF322642 NM_001257970 "CCDS58605|CCDS11768" Q9BXL6 "11278692|11356195|22521418" MGI:2386258 RGD:1591135 LRG_1330|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1330.xml 607211 304694 HGNC:16446 "ENST00000648509.2|NM_001366385.1" HGNC:16446 +HGNC:33701 CARD16 caspase recruitment domain family member 16 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "COP1|COP|PSEUDO-ICE|LLID-114769" caspase recruitment domain family, member 16 Caspase recruitment domain containing 959 2008-09-15 2015-11-18 2021-01-26 114769 ENSG00000204397 OTTHUMG00000166157 uc001pip.2 NM_001394580 CCDS41705 Q5EG05 "11432859|11536016" 615680 HGNC:33701 "ENST00000673097.2|NM_052889.4" +HGNC:33827 CARD17 caspase recruitment domain family member 17 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 INCA Inhibitory CARD caspase recruitment domain family, member 17 Caspase recruitment domain containing 959 2008-10-29 2015-11-18 2015-11-18 440068 ENSG00000255221 OTTHUMG00000166163 uc001pir.1 NM_001007232 CCDS31662 Q5XLA6 15383541 609490 HGNC:33827 +HGNC:28861 CARD18 caspase recruitment domain family member 18 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "UNQ5804|ICEBERG|pseudo-ICE" caspase recruitment domain family, member 18 Caspase recruitment domain containing 959 2008-09-02 2015-11-18 2019-08-21 59082 ENSG00000255501 OTTHUMG00000166165 uc021qpy.2 AY358231 NM_021571 CCDS53705 P57730 11051551 605354 HGNC:28861 "ENST00000530950.2|NM_021571.4" +HGNC:28148 CARD19 caspase recruitment domain family member 19 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "MGC11115|bA370F5.1|BinCARD" Bcl10-interacting protein with CARD C9orf89 "chromosome 9 open reading frame 89|caspase recruitment domain family, member 19" Caspase recruitment domain containing 959 2004-02-19 2015-10-20 2015-11-18 2016-10-05 84270 ENSG00000165233 OTTHUMG00000020243 AK057716 NM_032310 CCDS6702 Q96LW7 15637807 MGI:1915730 RGD:1306058 617726 HGNC:28148 "ENST00000375464.7|NM_032310.5" +HGNC:14435 CARF calcium responsive transcription factor protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "FLJ21579|NYD-SP24" calcium-response factor ALS2CR8 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 2001-01-26 2013-06-12 2013-06-12 2020-04-30 79800 ENSG00000138380 OTTHUMG00000154528 AB053309 NM_001104586 "CCDS63091|CCDS42801" Q8N187 "11586298|11832226" MGI:2182269 RGD:1306822 607586 HGNC:14435 "ENST00000438828.4|NM_024744.17" +HGNC:17150 CARHSP1 calcium regulated heat stable protein 1 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "CRHSP-24|CSDC1" "calcium regulated heat stable protein 1 (24kD)|calcium regulated heat stable protein 1, 24kDa" 2002-06-11 2015-11-09 2015-11-09 23589 ENSG00000153048 OTTHUMG00000129695 uc031qvd.2 AF115345 NM_014316 CCDS10537 Q9Y2V2 9712905 MGI:1196368 RGD:708415 616885 HGNC:17150 "ENST00000311052.10|NM_014316.4" +HGNC:55361 CARHSP1-DT CARHSP1 divergent transcript non-coding RNA RNA, long non-coding Approved 16p13.2 16p13.2 Divergent transcripts 1990 2020-11-11 2020-11-11 119545623 ENSG00000261481 +HGNC:23393 CARM1 coactivator associated arginine methyltransferase 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 PRMT4 7BS protein arginine methyltranferases 2057 2003-11-14 2015-11-17 2016-11-11 10498 ENSG00000142453 OTTHUMG00000180699 uc002mpz.4 AF055027 NM_199141 CCDS12250 Q86X55 "10381882|11724789" MGI:1913208 RGD:1305879 603934 objectId:1255 HGNC:23393 "ENST00000327064.9|NM_199141.2" +HGNC:23392 CARM1P1 coactivator associated arginine methyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 9p24.2 09p24.2 CARM1L coactivator associated arginine methyltransferase 1-like 2003-11-14 2010-10-11 2015-11-17 2015-11-17 100130873 ENSG00000227835 OTTHUMG00000019453 NG_009935 PGOHUM00000263531 HGNC:23392 +HGNC:55102 CARMAL coronary artery disease region linked MFGE8 regulatory lncRNA non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 RP11-326A19.4 "coronary artery disease associated region between MFGE8 and ABHD2 associated lncRNA|CARMA associated lncRNA'" Long non-coding RNAs with non-systematic symbols 1992 2020-06-26 2020-12-18 102724566 ENSG00000260123 XR_001751649 32625236 +HGNC:21581 CARMIL1 capping protein regulator and myosin 1 linker 1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "dJ501N12.1|FLJ20048|CARMIL" capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium) "LRRC16|LRRC16A" "leucine rich repeat containing 16|leucine rich repeat containing 16A" 2003-06-25 2016-06-14 2016-06-14 2016-10-05 55604 ENSG00000079691 OTTHUMG00000014393 uc011djw.2 AK000055 NM_017640 CCDS54973 Q5VZK9 19846667 MGI:1915982 RGD:1306623 609593 HGNC:21581 "ENST00000329474.7|NM_017640.6" +HGNC:27089 CARMIL2 capping protein regulator and myosin 1 linker 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 LRRC16C "RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein|leucine rich repeat containing 16C" RLTPR RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 2008-02-12 2016-04-22 2016-04-22 2021-05-26 146206 ENSG00000159753 OTTHUMG00000184043 uc002etn.4 AB113647 NM_001013838 "CCDS81998|CCDS45513" Q6F5E8 "15588584|19846667|26578515" MGI:2685431 RGD:1562390 610859 470980 HGNC:27089 "ENST00000334583.11|NM_001013838.3" HGNC:27089 +HGNC:20272 CARMIL3 capping protein regulator and myosin 1 linker 3 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "BC008134|crml-1" "C14orf121|LRRC16B" "chromosome 14 open reading frame 121|leucine rich repeat containing 16B" 2003-01-17 2016-04-22 2016-04-22 2016-06-14 90668 ENSG00000186648 OTTHUMG00000172023 uc001wlj.3 AI017934 NM_138360 CCDS32054 Q8ND23 19846667 MGI:2448573 RGD:1359120 614716 HGNC:20272 "ENST00000342740.6|NM_138360.4" +HGNC:42872 CARMN cardiac mesoderm enhancer-associated non-coding RNA non-coding RNA RNA, long non-coding Approved 5q32 05q32 CARMEN MIR143 and MIR145 host gene MIR143HG "MIR143 host gene (non-protein coding)|MIR143 host gene" "MicroRNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1992" 2011-09-02 2015-11-05 2015-11-05 2017-03-15 728264 ENSG00000249669 OTTHUMG00000163464 uc063iod.1 NR_105059 "26423156|27565737" MGI:4439832 RGD:10401674 carmen CARMN HGNC:42872 +HGNC:23435 CARNMT1 carnosine N-methyltransferase 1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 FLJ25795 C9orf41 chromosome 9 open reading frame 41 7BS small molecule methyltransferases 2063 2003-11-18 2015-07-10 2015-07-10 2016-10-05 138199 ENSG00000156017 OTTHUMG00000020032 AK098661 NM_152420 CCDS6649 Q8N4J0 26001783 MGI:1914633 RGD:1311863 616552 HGNC:23435 "ENST00000376834.8|NM_152420.3" +HGNC:51188 CARNMT1-AS1 CARNMT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.13 09q21.13 C9orf41-AS1 C9orf41 antisense RNA 1 Antisense RNAs 1987 2014-08-01 2018-11-26 2018-11-26 2018-11-26 101927380 ENSG00000203321 OTTHUMG00000020029 BC043649 NR_121183 C9orf41-AS1 HGNC:51188 +HGNC:29268 CARNS1 carnosine synthase 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 KIAA1394 ATPGD1 ATP-grasp domain containing 1 2008-10-21 2010-03-25 2010-03-25 2016-10-05 57571 ENSG00000172508 OTTHUMG00000167672 uc058egc.1 NM_020811 "CCDS44658|CCDS53667" A5YM72 20097752 MGI:2147595 RGD:1308234 613368 HGNC:29268 "ENST00000687366.1|NM_001166222.2" +HGNC:1493 CARS1 cysteinyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 cysteine tRNA ligase 1, cytoplasmic CARS cysteinyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 1992-12-10 2019-07-15 2019-07-15 2021-05-26 833 ENSG00000110619 OTTHUMG00000010927 uc001lxh.4 AF288207 NM_001751 "CCDS41600|CCDS41602|CCDS7742" P49589 8468064 MGI:1351477 RGD:1310747 123859 357449 6.1.1.16 HGNC:1493 "ENST00000380525.9|NM_001014437.3" +HGNC:40125 CARS1-AS1 CARS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 CARS-AS1 "CARS antisense RNA 1 (non-protein coding)|CARS antisense RNA 1" Antisense RNAs 1987 2011-11-18 2019-12-13 2019-12-13 2019-12-13 100852407 ENSG00000247473 OTTHUMG00000165360 uc001lxi.1 AK093033 NR_046580 CARS-AS1 HGNC:40125 +HGNC:50477 CARS1P1 cysteinyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 15q23 15q23 CARSP1 cysteinyl-tRNA synthetase pseudogene 1 2014-05-06 2019-07-15 2019-07-15 2019-07-15 100420042 ENSG00000271232 OTTHUMG00000184898 NG_025389 PGOHUM00000247154 HGNC:50477 +HGNC:50478 CARS1P2 cysteinyl-tRNA synthetase 1 pseudogene 2 pseudogene pseudogene Approved 8q23.3 08q23.3 CARSP2 cysteinyl-tRNA synthetase pseudogene 2 2014-05-06 2019-07-15 2019-07-15 2019-07-15 106481707 ENSG00000253756 OTTHUMG00000164902 NG_043273 PGOHUM00000249489 HGNC:50478 +HGNC:25695 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 13q34 13q34 FLJ12118 cysteine tRNA ligase 2, mitochondrial (putative) cysteinyl-tRNA synthetase 2, mitochondrial (putative) Aminoacyl tRNA synthetases, Class I 131 2007-01-24 2017-08-08 2021-05-26 79587 ENSG00000134905 OTTHUMG00000017347 uc001vrd.3 BC007220 NM_024537 CCDS9514 Q9HA77 "15779907|25787132" MGI:1919191 RGD:1311612 612800 470034 6.1.1.16 HGNC:25695 "ENST00000257347.9|NM_024537.4" HGNC:25695 +HGNC:24323 CARTPT CART prepropeptide protein-coding gene gene with protein product Approved 5q13.2 05q13.2 CART cocaine and amphetamine regulated transcript 2006-10-04 2021-05-26 9607 ENSG00000164326 OTTHUMG00000131261 uc003kbv.2 U16826 NM_004291 CCDS4011 Q16568 "9590691|8647455" MGI:1351330 RGD:2272 602606 HGNC:24323 "ENST00000296777.5|NM_004291.4" HGNC:24323 +HGNC:22933 CASC2 cancer susceptibility 2 non-coding RNA RNA, long non-coding Approved 10q26.11 10q26.11 C10orf5 "chromosome 10 open reading frame 5|cancer susceptibility candidate 2|cancer susceptibility candidate 2 (non-protein coding)|cancer susceptibility 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2003-07-23 2004-01-23 2018-05-16 2018-07-20 255082 ENSG00000177640 OTTHUMG00000019127 uc001ldm.5 AJ535620 NR_026939 "Q6XLA1|Q8IU53" "25446261|28121023" 608598 CASC2 HGNC:22933 +HGNC:17040 CASC3 CASC3 exon junction complex subunit protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "MLN51|BTZ" "cancer susceptibility candidate 3|cancer susceptibility 3" "Exon junction complex|MicroRNA protein coding host genes" "1238|1691" 2004-02-11 2019-01-18 2019-01-18 22794 ENSG00000108349 OTTHUMG00000133323 uc002hue.4 X80199 NM_007359 CCDS11362 O15234 "7490069|18332872|27780844" MGI:2179723 RGD:628766 606504 HGNC:17040 "ENST00000264645.12|NM_007359.5" +HGNC:49076 CASC6 cancer susceptibility 6 non-coding RNA RNA, long non-coding Approved 6q15 06q15 "cancer susceptibility candidate 6 (non-protein coding)|cancer susceptibility 6 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-08-19 2018-05-16 2020-04-20 101929083 ENSG00000224944 OTTHUMG00000015221 BC037927 NR_104154 CASC6 HGNC:49076 +HGNC:45129 CASC8 cancer susceptibility 8 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "LINC00860|CARLo-1" long intergenic non-protein coding RNA 860 "cancer susceptibility candidate 8 (non-protein coding)|cancer susceptibility 8 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-07-01 2018-05-16 2018-08-16 727677 ENSG00000246228 OTTHUMG00000187906 NR_024393 "24594601|28759252" 617701 HGNC:45129 +HGNC:48906 CASC9 cancer susceptibility 9 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 "LINC00981|ESCCAL-1|linc-JPH1" "long intergenic non-protein coding RNA 981|esophageal squamous cell carcinoma associated lncRNA-1" "cancer susceptibility candidate 9 (non-protein coding)|cancer susceptibility 9 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-07-01 2018-05-16 2019-06-19 101805492 ENSG00000249395 OTTHUMG00000164547 BC062758 NR_103848 "25885227|28854977|31186036" CASC9 HGNC:48906 +HGNC:48939 CASC11 cancer susceptibility 11 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "TCONS_00014535|LINC00990|CARLo-7|ENST00000518376|MYMLR" "long intergenic non-protein coding RNA 990|MYC‐modulating lncRNA" "cancer susceptibility candidate 11 (non-protein coding)|cancer susceptibility 11 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-07-17 2018-05-16 2019-08-08 100270680 ENSG00000249375 OTTHUMG00000164870 BC042052 NR_117101 "24594601|27729273" 617704 CASC11 HGNC:48939 +HGNC:28245 CASC15 cancer susceptibility 15 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 lnc-SOX4-1 LINC00340 "long intergenic non-protein coding RNA 340|cancer susceptibility candidate 15 (non-protein coding)|cancer susceptibility 15 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2011-08-10 2013-08-22 2018-05-16 2018-07-25 401237 ENSG00000272168 OTTHUMG00000014345 AK026189 NR_015410 "26016895|26100672|28724437" 616610 CASC15 HGNC:28245 +HGNC:48608 CASC16 cancer susceptibility 16 non-coding RNA RNA, long non-coding Approved 16q12.1-q12.2 16q12.1-q12.2 LOC643714 LINC00918 "long intergenic non-protein coding RNA 918|cancer susceptibility candidate 16 (non-protein coding)|cancer susceptibility 16 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-05-24 2013-07-17 2018-05-16 2018-05-16 643714 ENSG00000249231 OTTHUMG00000173223 "BC034767|DB462404|DB523777" NR_033920 CASC16 HGNC:48608 +HGNC:43911 CASC17 cancer susceptibility 17 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 LINC00600 long intergenic non-protein coding RNA 600 "cancer susceptibility candidate 17 (non-protein coding)|cancer susceptibility 17 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-08-19 2018-05-16 2018-05-16 101928165 ENSG00000260785 OTTHUMG00000176079 BC039327 NR_104152 CASC17 HGNC:43911 +HGNC:49463 CASC18 cancer susceptibility 18 non-coding RNA RNA, long non-coding Approved 12q23.3 12q23.3 LOC101929110 "cancer susceptibility candidate 18 (non-protein coding)|cancer susceptibility 18 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-12-03 2018-05-16 2018-05-16 101929110 ENSG00000257859 OTTHUMG00000169725 AK001551 NR_110108 CASC18 HGNC:49463 +HGNC:49476 CASC19 cancer susceptibility 19 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 CARLo-6 LINC01245 "long intergenic non-protein coding RNA 1245|cancer susceptibility candidate 19 (non-protein coding)|cancer susceptibility 19 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-12-18 2018-05-16 2018-05-16 103021165 ENSG00000254166 OTTHUMG00000165064 "BI223175|JX003871|DW435273" NR_120364 24594601 617703 HGNC:49476 +HGNC:49477 CASC20 cancer susceptibility 20 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 "cancer susceptibility candidate 20 (non-protein coding)|cancer susceptibility 20 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-12-14 2018-05-16 2018-05-16 101929244 ENSG00000229876 OTTHUMG00000031831 AY007089 NR_109953 CASC20 HGNC:49477 +HGNC:49836 CASC21 cancer susceptibility 21 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 CARLo-2 LINC01244 "long intergenic non-protein coding RNA 1244|cancer susceptibility candidate 21 (non-protein coding)|cancer susceptibility 21 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2014-03-09 2014-03-13 2018-05-16 2020-01-22 103021164 OTTHUMG00000165067 "JX003867|CB104826" NR_117099 24594601 617702 CASC21 HGNC:49836 +HGNC:50627 CASC22 cancer susceptibility 22 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 "TCONS_00024290|LincRNA-ENST00000515084" LINC01373 "long intergenic non-protein coding RNA 1373|cancer susceptibility candidate 22 (non-protein coding)|cancer susceptibility 22 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2014-05-30 2014-06-18 2018-05-16 2018-05-16 283854 ENSG00000260887 OTTHUMG00000173239 AK093211 NR_135281 24879036 HGNC:50627 +HGNC:50865 CASC23 cancer susceptibility 23 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 LINC01464 long intergenic non-protein coding RNA 1464 "cancer susceptibility candidate 23 (non-protein coding)|cancer susceptibility 23 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2014-07-14 2018-05-16 2018-05-16 103581031 ENSG00000255420 OTTHUMG00000165689 BC027619 NR_125366 CASC23 HGNC:50865 +HGNC:16014 CASD1 CAS1 domain containing 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "FLJ21213|FLJ21879|C7orf12" chromosome 7 open reading frame 12 2006-03-07 2016-10-05 64921 ENSG00000127995 OTTHUMG00000023356 uc003uni.5 AF355594 NM_022900 CCDS5636 Q96PB1 "11703667|11528394" MGI:2384865 RGD:1596912 611686 HGNC:16014 "ENST00000297273.9|NM_022900.5" +HGNC:1497 CASK calcium/calmodulin dependent serine protein kinase protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "LIN2|CAGH39|FGS4" TNRC8 "trinucleotide repeat containing 8|calcium/calmodulin-dependent serine protein kinase (MAGUK family)" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1998-09-25 2016-05-24 2021-05-26 8573 ENSG00000147044 OTTHUMG00000021378 uc004dfl.5 AF035582 NM_003688 "CCDS48095|CCDS48094|CCDS14257" O14936 9722958 MGI:1309489 RGD:62004 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CASK 300172 165976 objectId:1959 HGNC:1497 "ENST00000378163.7|NM_001367721.1" HGNC:1497 +HGNC:40126 CASK-AS1 CASK antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.4 Xp11.4 CASK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873928 ENSG00000233033 OTTHUMG00000021372 uc064yqt.1 CASK-AS1 +HGNC:20879 CASKIN1 CASK interacting protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA1306|ANKS5A" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2003-04-16 2019-08-20 57524 ENSG00000167971 OTTHUMG00000177045 uc010bsg.2 AF451977 NM_020764 CCDS42103 Q8WXD9 12040031 MGI:2442952 RGD:620191 612184 HGNC:20879 "ENST00000343516.8|NM_020764.4" +HGNC:18200 CASKIN2 CASK interacting protein 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "KIAA1139|FLJ21609|ANKS5B" "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2003-04-16 2015-08-26 57513 ENSG00000177303 OTTHUMG00000179683 uc002joc.5 AB032965 NM_020753 "CCDS45775|CCDS11723" Q8WXE0 12040031 MGI:2157062 RGD:1309738 612185 HGNC:18200 "ENST00000321617.8|NM_020753.5" +HGNC:1498 CASKP1 calcium/calmodulin dependent serine protein kinase pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 CASKP "calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene|calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 1|calcium/calmodulin dependent serine protein kinase (MAGUK family) pseudogene 1" 1999-05-17 2010-03-17 2016-06-08 2016-10-05 10029 ENSG00000234059 OTTHUMG00000036325 NG_002805.5 HGNC:1498 +HGNC:1499 CASP1 caspase 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 ICE "caspase-1|interleukin 1, beta, convertase" IL1BC "caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)|caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)|caspase 1, apoptosis-related cysteine peptidase" "Caspases|Caspase recruitment domain containing" "468|959" 1992-05-07 2015-11-12 2020-09-17 834 ENSG00000137752 OTTHUMG00000048072 uc021qpp.3 U13697 NM_033292 "CCDS53704|CCDS8332|CCDS8331|CCDS8330|CCDS8329" P29466 "1373520|9250871" MGI:96544 RGD:2274 147678 470036 C14.001 objectId:1617 3.4.22.36 HGNC:1499 "ENST00000533400.6|NM_001257118.3" +HGNC:43775 CASP1P1 caspase 1 pseudogene 1 pseudogene pseudogene Approved 11q22.3 11q22.3 caspase 1, apoptosis-related cysteine peptidase pseudogene 1 2012-02-24 2015-11-12 2015-11-12 100874457 ENSG00000255430 OTTHUMG00000166164 NG_032566 PGOHUM00000242460 HGNC:43775 +HGNC:43776 CASP1P2 caspase 1 pseudogene 2 pseudogene pseudogene Approved 11q22.3 11q22.3 caspase 1, apoptosis-related cysteine peptidase pseudogene 2 2012-02-24 2015-11-12 2020-01-22 440067 ENSG00000254750 OTTHUMG00000166162 NR_131905 PGOHUM00000257862 HGNC:43776 +HGNC:43777 CASP1P3 caspase 1 pseudogene 3 pseudogene pseudogene Approved 11q22.3 11q22.3 caspase 1, apoptosis-related cysteine peptidase pseudogene 3 2012-02-24 2015-11-12 2015-11-12 100422634 NG_024409 PGOHUM00000257863 HGNC:43777 +HGNC:1503 CASP2 caspase 2 protein-coding gene gene with protein product Approved 7q34 07q34 "ICH1|PPP1R57|MGC2181" protein phosphatase 1, regulatory subunit 57 NEDD2 "neural precursor cell expressed, developmentally down-regulated 2|caspase 2, apoptosis-related cysteine peptidase" "Caspases|Protein phosphatase 1 regulatory subunits|Caspase recruitment domain containing" "468|694|959" 1994-01-21 2015-11-12 2021-05-26 835 ENSG00000106144 OTTHUMG00000023641 uc003wco.3 "AK096245|BC002427|BM998653|BX537669|CB988674|U13021" NM_032982 "CCDS5879|CCDS47733" P42575 "7789948|8780721|19075813" MGI:97295 RGD:69274 600639 C14.006 objectId:1618 3.4.22.55 HGNC:1503 "ENST00000310447.10|NM_032982.4" +HGNC:1504 CASP3 caspase 3 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "CPP32|CPP32B|Yama|apopain" "caspase 3, apoptosis-related cysteine protease|caspase 3, apoptosis-related cysteine peptidase" "Caspases|Small nucleolar RNA protein coding host genes" "468|1835" 1996-07-22 2015-11-12 2020-09-17 836 ENSG00000164305 OTTHUMG00000133681 uc003iwi.4 BC016926 NM_004346 "CCDS87283|CCDS3836" P42574 8780721 MGI:107739 RGD:2275 600636 C14.003 objectId:1619 3.4.22.56 HGNC:1504 "ENST00000308394.9|NM_004346.4" +HGNC:43596 CASP3P1 caspase 3 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 caspase 3, apoptosis-related cysteine peptidase pseudogene 1 2011-11-22 2015-11-12 2015-11-12 100131616 ENSG00000237033 OTTHUMG00000009345 NG_022722 PGOHUM00000244069 HGNC:43596 +HGNC:1505 CASP4 caspase 4 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "ICE(rel)II|ICH-2|TX" "caspase 4, apoptosis-related cysteine protease|caspase 4, apoptosis-related cysteine peptidase" "Caspases|Caspase recruitment domain containing" "468|959" 1996-07-22 2015-11-12 2020-09-17 837 ENSG00000196954 OTTHUMG00000166078 uc001pid.2 U25804 NM_001225 "CCDS8327|CCDS41704" P49662 "7797510|9250871" MGI:107700 RGD:621757 602664 C14.007 objectId:1620 3.4.22.57 HGNC:1505 "ENST00000444739.7|NM_001225.4" +HGNC:53657 CASP4LP caspase 4 like, pseudogene pseudogene pseudogene Approved 11q22.3 11q22.3 CASP17P caspase 17, pseudogene 2018-06-20 2020-01-22 2020-01-22 2020-01-22 643733 ENSG00000235505 OTTHUMG00000166076 NR_034078 HGNC:53657 +HGNC:1506 CASP5 caspase 5 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 ICE(rel)III "caspase 5, apoptosis-related cysteine protease|caspase 5, apoptosis-related cysteine peptidase" "Caspases|Caspase recruitment domain containing" "468|959" 1996-09-13 2015-11-12 2020-09-17 838 ENSG00000137757 OTTHUMG00000048073 uc010rva.2 NM_004347 "CCDS8328|CCDS44719|CCDS44718|CCDS44720" P51878 "7797592|9250871" MGI:107700 602665 C14.008 objectId:1621 3.4.22.58 HGNC:1506 "ENST00000260315.8|NM_004347.5" +HGNC:1507 CASP6 caspase 6 protein-coding gene gene with protein product Approved 4q25 04q25 MCH2 "caspase 6, apoptosis-related cysteine protease|caspase 6, apoptosis-related cysteine peptidase" Caspases 468 1996-07-22 2015-11-12 2020-09-17 839 ENSG00000138794 OTTHUMG00000131914 uc003hzn.2 U20536 NM_001226 "CCDS3684|CCDS3685" P55212 "8780721|7796396" MGI:1312921 RGD:70967 601532 C14.005 objectId:1622 3.4.22.59 HGNC:1507 "ENST00000265164.7|NM_001226.4" +HGNC:1508 CASP7 caspase 7 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "MCH3|CMH-1|ICE-LAP3" "caspase 7, apoptosis-related cysteine protease|caspase 7, apoptosis-related cysteine peptidase" Caspases 468 1996-07-22 2015-11-12 2020-09-17 840 ENSG00000165806 OTTHUMG00000019076 uc010qsa.4 U37448 NM_033338 "CCDS58096|CCDS73200|CCDS7580|CCDS7581|CCDS7582" P55210 "8521391|8576161" MGI:109383 RGD:620944 601761 C14.004 objectId:1623 3.4.22.60 HGNC:1508 "ENST00000369318.8|NM_001227.5" +HGNC:1509 CASP8 caspase 8 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "MCH5|MACH|FLICE|Casp-8" "caspase 8, apoptosis-related cysteine protease|caspase 8, apoptosis-related cysteine peptidase" "Caspases|Death effector domain containing|Ripoptosome|Death inducing signaling complex " "468|1019|1340|1342" 1996-11-11 2015-11-12 2021-05-26 841 ENSG00000064012 OTTHUMG00000132821 uc002uxt.2 U60520 NM_001228 "CCDS42798|CCDS2345|CCDS42799|CCDS2343|CCDS2342" Q14790 "8681376|8681377" MGI:1261423 RGD:620945 "CASP8base: Mutation registry for Caspase 8 deficiency|http://structure.bmc.lu.se/idbase/CASP8base/|LRG_34|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_34.xml" CASP8 601763 138851 C14.009 objectId:1624 3.4.22.61 HGNC:1509 "ENST00000673742.1|NM_001372051.1" HGNC:1509 +HGNC:1510 CASP8AP2 caspase 8 associated protein 2 protein-coding gene gene with protein product Approved 6q15 06q15 "FLASH|CED-4|RIP25|FLJ11208|KIAA1315" FLICE-associated huge protein CASP8 associated protein 2 1999-12-10 2008-10-30 2014-11-19 9994 ENSG00000118412 OTTHUMG00000015212 uc063qcj.1 AB037736 NM_001137667 Q9UKL3 "10235259|17245429|17003126" MGI:1349399 RGD:1305771 606880 HGNC:1510 +HGNC:1511 CASP9 caspase 9 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "MCH6|ICE-LAP6|APAF-3|PPP1R56" protein phosphatase 1, regulatory subunit 56 "caspase 9, apoptosis-related cysteine protease|caspase 9, apoptosis-related cysteine peptidase" "Caspases|Protein phosphatase 1 regulatory subunits|Caspase recruitment domain containing|Apoptosome" "468|694|959|1341" 1996-11-11 2015-11-12 2020-09-17 842 ENSG00000132906 OTTHUMG00000002256 uc001awn.5 U60521 NM_032996 "CCDS59995|CCDS159|CCDS158" P55211 "8663294|9390557" MGI:1277950 RGD:61867 602234 C14.010 objectId:1625 3.4.22.62 HGNC:1511 "ENST00000333868.10|NM_001229.5" +HGNC:1500 CASP10 caspase 10 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "MCH4|FLICE-2" FAS-associated death domain protein interleukin-1B-converting enzyme 2 "caspase 10, apoptosis-related cysteine protease|caspase 10, apoptosis-related cysteine peptidase" "Caspases|Death effector domain containing|Death inducing signaling complex " "468|1019|1342" 1997-04-21 2015-11-12 2021-05-26 843 ENSG00000003400 OTTHUMG00000132818 uc002uxj.2 U60519 NM_032977 "CCDS77506|CCDS56160|CCDS56159|CCDS2338|CCDS2340|CCDS2339" Q92851 8755496 "CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)|http://structure.bmc.lu.se/idbase/CASP10base/|LRG_33|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_33.xml" 601762 119179 C14.011 objectId:1626 3.4.22.63 HGNC:1500 "ENST00000286186.11|NM_032977.4" HGNC:1500 +HGNC:19004 CASP12 caspase 12 (gene/pseudogene) protein-coding gene gene with protein product Approved 11q22.3 11q22.3 CASP12P1 "caspase 12 pseudogene 1|caspase 12" "Caspases|Caspase recruitment domain containing" "468|959" 2002-07-25 2006-02-17 2007-12-17 2020-05-15 100506742 ENSG00000204403 OTTHUMG00000154965 uc031ydr.1 AF464191 NM_001191016 Q6UXS9 "12054529|9038361|16917906|16532395" MGI:1312922 RGD:621758 608633 C14.P01 HGNC:19004 +HGNC:1502 CASP14 caspase 14 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "MICE|MGC119078|MGC119079" apoptosis-related cysteine protease "caspase 14, apoptosis-related cysteine protease|caspase 14, apoptosis-related cysteine peptidase" Caspases 468 1998-11-09 2015-11-12 2020-09-17 23581 ENSG00000105141 OTTHUMG00000183205 uc010dzv.3 NM_012114 CCDS12323 P31944 "10203698|9792675|15301553" MGI:1335092 RGD:1311781 605848 C14.018 objectId:1627 3.4.22.- HGNC:1502 "ENST00000427043.4|NM_012114.3" HGNC:1502 +HGNC:27290 CASP16P caspase 16, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 CASP16 caspase 16, apoptosis-related cysteine peptidase (putative) Caspases 468 2012-02-29 2015-07-13 2015-07-13 2017-08-16 197350 ENSG00000228146 OTTHUMG00000177520 NR_132322 18281271 MGI:3646305 RGD:1588238 HGNC:27290 +HGNC:1512 CASQ1 calsequestrin 1 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 PDIB1 "calsequestrin 1, fast-twitch, skeletal muscle|calmitine" CASQ calsequestrin 1 (fast-twitch, skeletal muscle) Protein disulfide isomerases 692 1990-08-23 2015-11-30 2021-05-26 844 ENSG00000143318 OTTHUMG00000031607 uc010pja.3 S73775 NM_001231 CCDS1198 P31415 "8406504|2321095" MGI:1309468 RGD:1586677 114250 413011 HGNC:1512 "ENST00000368078.8|NM_001231.5" HGNC:1512 +HGNC:1513 CASQ2 calsequestrin 2 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 PDIB2 calsequestrin 2 (cardiac muscle) Protein disulfide isomerases 692 1992-11-05 2015-11-30 2021-05-26 845 ENSG00000118729 OTTHUMG00000011970 uc001efx.5 BC022288 NM_001232 CCDS884 O14958 8406504 MGI:1309469 RGD:2276 LRG_404|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_404.xml 114251 119182 HGNC:1513 "ENST00000261448.6|NM_001232.4" HGNC:1513 +HGNC:1514 CASR calcium sensing receptor protein-coding gene gene with protein product Approved 3q13.33-q21.1 03q13.33-q21.1 "FHH|NSHPT|GPRC2A" severe neonatal hyperparathyroidism "HHC|HHC1" "hypocalciuric hypercalcemia 1|calcium-sensing receptor" Calcium sensing receptors 279 1992-12-04 2016-01-26 2021-05-26 846 ENSG00000036828 OTTHUMG00000159491 uc003eev.5 U20760 NM_000388 "CCDS54632|CCDS3010" P41180 7677761 MGI:1351351 RGD:2277 CASRdb Calcium Sensing Receptor Locus Mutation Database|http://www.casrdb.mcgill.ca 601199 119185 objectId:54 HGNC:1514 "ENST00000639785.2|NM_000388.4" HGNC:1514 +HGNC:15878 CASS4 Cas scaffold protein family member 4 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "HEFL|HEPL" "HEF-like protein|HEF1-Efs-p130Cas-like" C20orf32 "chromosome 20 open reading frame 32|Cas scaffolding protein family member 4" Cas scaffold proteins 469 2001-06-21 2008-04-15 2018-03-01 2018-03-01 57091 ENSG00000087589 OTTHUMG00000032788 uc002xxp.3 AJ276678 NM_020356 "CCDS54475|CCDS33492" Q9NQ75 "26119091|24962474" MGI:2444482 RGD:1310643 618888 HGNC:15878 "ENST00000679887.1|NM_020356.4" +HGNC:1515 CAST calpastatin protein-coding gene gene with protein product Approved 5q15 05q15 1990-07-03 2020-09-17 831 ENSG00000153113 OTTHUMG00000128413 uc003kmd.4 AF327443 NM_173062 "CCDS75279|CCDS43344|CCDS54882|CCDS54883|CCDS83017|CCDS4082" P20810 "8340353|14685690|15820218" MGI:1098236 RGD:2278 114090 448710 HGNC:1515 "ENST00000675179.1|NM_001750.7" HGNC:1515 +HGNC:34423 CASTOR1 cytosolic arginine sensor for mTORC1 subunit 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 GATSL3 "GATS protein-like 3|GATS protein like 3" 2009-04-08 2017-02-20 2017-02-20 2017-02-20 652968 ENSG00000239282 OTTHUMG00000150929 uc003ahd.4 NM_001037666 CCDS43001 Q8WTX7 26972053 MGI:1919212 RGD:1304774 617034 HGNC:34423 "ENST00000407689.8|NM_001037666.3" +HGNC:37073 CASTOR2 cytosolic arginine sensor for mTORC1 subunit 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "GATSL1|GATSL2" "GATS protein-like 1|GATS protein like 2" 2009-04-08 2017-02-20 2017-02-20 2017-08-02 729438 ENSG00000274070 OTTHUMG00000181541 uc003ucg.4 BC147030 NM_001145064 CCDS75620 A6NHX0 26972053 MGI:1933384 RGD:1304672 617033 HGNC:37073 "ENST00000616305.2|NM_001145064.3" +HGNC:29954 CASTOR3 CASTOR family member 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DKFZp686B07267|STAG3OS" stromal antigen 3 opposite strand GATS GATS, stromal antigen 3 opposite strand 2009-02-05 2018-01-18 2018-01-18 2018-01-18 352954 ENSG00000239521 OTTHUMG00000155289 uc003uua.5 AK095056 NM_178831 CCDS43621 Q8NAP1 12477932 MGI:1933384 HGNC:29954 +HGNC:26002 CASZ1 castor zinc finger 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FLJ20321|ZNF693|castor|cst|SRG" "zinc finger protein 693|survival related gene" castor homolog 1, zinc finger (Drosophila) Zinc fingers C2H2-type 28 2005-05-13 2007-02-02 2021-05-26 54897 ENSG00000130940 OTTHUMG00000002035 uc001aro.6 AK000328 NM_017766 "CCDS41246|CCDS120" Q86V15 "16631614|21252912" MGI:1196251 RGD:1563533 609895 HGNC:26002 "ENST00000377022.8|NM_001079843.3" +HGNC:1516 CAT catalase protein-coding gene gene with protein product Approved 11p13 11p13 2001-06-22 2020-09-17 847 ENSG00000121691 OTTHUMG00000044353 uc001mvm.4 AY028632 NM_001752 CCDS7891 P04040 MGI:88271 RGD:2279 115500 119192 objectId:2979 1.11.1.6 HGNC:1516 "ENST00000241052.5|NM_001752.4" HGNC:1516 +HGNC:25062 CATIP ciliogenesis associated TTC17 interacting protein protein-coding gene gene with protein product Approved 2q35 02q35 MGC50811 C2orf62 chromosome 2 open reading frame 62 2007-07-10 2014-02-06 2014-02-06 2021-07-26 375307 ENSG00000158428 OTTHUMG00000133106 BC052750 NM_198559 CCDS2414 Q7Z7H3 "24475127|32503832" MGI:2685062 RGD:1596071 619387 HGNC:25062 "ENST00000289388.4|NM_198559.2" +HGNC:41080 CATIP-AS1 CATIP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2014-02-06 2014-11-19 101928513 ENSG00000225062 OTTHUMG00000155067 BC038211 NR_110573 CATIP-AS1 HGNC:41080 +HGNC:41079 CATIP-AS2 CATIP antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2014-02-06 2014-11-19 103689911 ENSG00000237281 OTTHUMG00000155145 CD672221 NR_125777 CATIP-AS2 HGNC:41079 +HGNC:1525 CATR1 CATR tumorigenicity conversion 1 other unknown Approved 7q32 07q32 1995-11-14 2019-03-06 856 U25433 Q13166 7604004 600676 +HGNC:17116 CATSPER1 cation channel sperm associated 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 CATSPER cation channel, sperm associated 1 Cation channels sperm associated 186 2002-06-20 2016-02-04 2021-11-11 117144 ENSG00000175294 OTTHUMG00000166668 uc001ogt.3 AF407333 NM_053054 CCDS8127 Q8NEC5 "11675491|11595941|16382101" MGI:2179947 RGD:1593515 606389 279661 objectId:388 HGNC:17116 "ENST00000312106.6|NM_053054.4" HGNC:17116 +HGNC:18810 CATSPER2 cation channel sperm associated 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 cation channel, sperm associated 2 Cation channels sperm associated 186 2002-06-20 2016-02-04 2016-02-04 117155 ENSG00000166762 OTTHUMG00000059902 uc001zsh.5 AF411817 NM_054020 "CCDS10099|CCDS32216|CCDS73714" Q96P56 "11675491|16382101" MGI:2387404 RGD:1307620 607249 159339 objectId:389 HGNC:18810 "ENST00000396879.8|NM_172095.4" +HGNC:31054 CATSPER2P1 cation channel sperm associated 2 pseudogene 1 pseudogene pseudogene Approved 15q15.3 15q15.3 cation channel, sperm associated 2 pseudogene 1 2006-02-10 2016-02-04 2016-02-04 440278 ENSG00000205771 OTTHUMG00000059938 BC066967 NR_002318 PGOHUM00000246770 HGNC:31054 +HGNC:20819 CATSPER3 cation channel sperm associated 3 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 CACRC cation channel, sperm associated 3 Cation channels sperm associated 186 2003-10-17 2016-02-04 2021-05-26 347732 ENSG00000152705 OTTHUMG00000129137 uc003lag.3 AF432876 NM_178019 CCDS4181 Q86XQ3 "12646162|12932298|17227845|16382101" MGI:1924106 RGD:1305700 609120 objectId:390 HGNC:20819 "ENST00000282611.8|NM_178019.3" +HGNC:23220 CATSPER4 cation channel sperm associated 4 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 cation channel, sperm associated 4 Cation channels sperm associated 186 2003-10-17 2016-02-04 2021-05-26 378807 ENSG00000188782 OTTHUMG00000003383 uc010oez.3 BN000273 NM_198137 CCDS30645 Q7RTX7 "12932298|17227845|16382101" MGI:3043288 RGD:1565213 609121 objectId:391 HGNC:23220 "ENST00000456354.7|NM_198137.2" +HGNC:20500 CATSPERB cation channel sperm associated auxiliary subunit beta protein-coding gene gene with protein product Approved 14q32.12 14q32.12 FLJ14298 C14orf161 "chromosome 14 open reading frame 161|cation channel, sperm-associated, beta|catsper channel auxiliary subunit beta" Cation channels sperm associated 186 2003-10-02 2007-10-18 2016-02-04 2016-02-04 79820 ENSG00000133962 OTTHUMG00000171118 uc001xzs.2 AK024360 NM_024764 CCDS32142 Q9H7T0 17478420 MGI:2443988 RGD:6500065 611169 objectId:2326 HGNC:20500 "ENST00000256343.8|NM_024764.4" +HGNC:28598 CATSPERD cation channel sperm associated auxiliary subunit delta protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC39581 TMEM146 "transmembrane protein 146|catsper channel auxiliary subunit delta" Cation channels sperm associated 186 2006-03-30 2012-02-22 2016-02-04 2016-02-04 257062 ENSG00000174898 OTTHUMG00000143036 uc002mda.4 BC043005 NM_152784 CCDS12149 Q86XM0 21224844 MGI:2147030 RGD:1594167 617490 HGNC:28598 "ENST00000381624.4|NM_152784.4" +HGNC:28491 CATSPERE catsper channel auxiliary subunit epsilon protein-coding gene gene with protein product Approved 1q44 01q44 MGC33370 C1orf101 chromosome 1 open reading frame 101 Cation channels sperm associated 186 2005-05-31 2017-03-03 2017-03-03 2017-03-03 257044 ENSG00000179397 OTTHUMG00000040103 uc001ial.4 BC032859 NM_173807 "CCDS44340|CCDS1625|CCDS55693" Q5SY80 28226241 MGI:3647531 RGD:1565309 617510 HGNC:28491 "ENST00000366534.9|NM_001130957.2" +HGNC:25243 CATSPERG cation channel sperm associated auxiliary subunit gamma protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "DKFZp434A1022|FLJ46353" C19orf15 "chromosome 19 open reading frame 15|cation channel, sperm-associated, gamma|catsper channel auxiliary subunit gamma" Cation channels sperm associated 186 2004-02-11 2009-07-17 2016-02-04 2016-10-05 57828 ENSG00000099338 OTTHUMG00000153223 uc002oih.5 AK128220 NM_021185 "CCDS12514|CCDS82346" Q6ZRH7 19516020 "MGI:1923968|MGI:2443617" RGD:1310942 613452 470038 HGNC:25243 "ENST00000409235.8|NM_021185.5" +HGNC:19231 CATSPERZ catsper channel auxiliary subunit zeta protein-coding gene gene with protein product Approved 11q13.1 11q13.1 DKFZP566E164 "C11orf20|TEX40" "chromosome 11 open reading frame 20|testis expressed 40" Cation channels sperm associated 186 2008-12-09 2017-03-03 2017-03-03 2017-03-03 25858 ENSG00000219435 OTTHUMG00000167820 uc058cwu.1 NM_001039496 Q9NTU4 28226241 MGI:1914327 RGD:2318763 617511 HGNC:19231 "ENST00000328404.8|NM_001039496.2" +HGNC:1527 CAV1 caveolin 1 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 CAV "caveolin 1, caveolae protein, 22kD|caveolin 1, caveolae protein, 22kDa" Caveolins 1942 1993-11-02 2015-11-09 2021-05-26 857 ENSG00000105974 OTTHUMG00000023413 uc003vif.3 AF125348 NM_001753 "CCDS5767|CCDS55156" Q03135 10087206 MGI:102709 RGD:2280 601047 171064 HGNC:1527 "ENST00000341049.7|NM_001753.5" HGNC:1527 +HGNC:1528 CAV2 caveolin 2 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 CAV Caveolins 1942 1998-03-02 2020-09-17 858 ENSG00000105971 OTTHUMG00000023414 uc003vid.4 AF035752 NM_001233 "CCDS5766|CCDS5765" P51636 "8552590|10087206" MGI:107571 RGD:620348 601048 HGNC:1528 "ENST00000222693.5|NM_001233.5" +HGNC:1529 CAV3 caveolin 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "VIP-21|LGMD1C|VIP21|LQT9" M-caveolin Caveolins 1942 1998-05-14 2021-05-26 859 ENSG00000182533 OTTHUMG00000090519 uc003brb.3 AF043101 NM_033337 CCDS2569 P56539 "9536092|9537420" MGI:107570 RGD:2281 "Limb-Girdle Muscular Dystrophy type 1C|http://www.LOVD.nl/CAV3|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=CAV3|CAV3 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=CAV3|LRG_329|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_329.xml" 601253 119194 HGNC:1529 "ENST00000343849.3|NM_033337.3" HGNC:1529 +HGNC:9688 CAVIN1 caveolae associated protein 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "cavin-1|CGL4" congenital generalized lipodystrophy 4 PTRF polymerase I and transcript release factor Cavins 1326 1998-09-21 2017-03-24 2017-03-24 2021-05-26 284119 ENSG00000177469 OTTHUMG00000180137 uc002hzo.4 AF000421 NM_012232 CCDS11425 Q6NZI2 9582279 MGI:1277968 RGD:1307685 Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=PTRF 603198 227086 HGNC:9688 "ENST00000357037.6|NM_012232.6" HGNC:9688 +HGNC:10690 CAVIN2 caveolae associated protein 2 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "SDR|PS-p68|cavin-2" phosphatidylserine binding protein SDPR "serum deprivation response (phosphatidylserine-binding protein)|serum deprivation response (phosphatidylserine binding protein)|serum deprivation response" Cavins 1326 1998-10-30 2017-03-24 2017-03-24 2017-03-24 8436 ENSG00000168497 OTTHUMG00000154309 uc002utb.4 AF085481 NM_004657 CCDS2313 O95810 "10191091|8241023" MGI:99513 RGD:1359345 606728 HGNC:10690 "ENST00000304141.5|NM_004657.6" +HGNC:40517 CAVIN2-AS1 CAVIN2 and TMEFF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 LOC105373813 Antisense RNAs 1987 2019-07-24 2019-07-24 105373813 ENSG00000233766 OTTHUMG00000154331 XR_923723 31334828 HGNC:40517 +HGNC:9400 CAVIN3 caveolae associated protein 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "SRBC|HSRBC|MGC20400|cavin-3" sdr-related gene product that binds to c-kinase PRKCDBP "protein kinase C, delta binding protein|protein kinase C delta binding protein" Cavins 1326 1999-01-15 2017-03-24 2017-03-24 2017-03-24 112464 ENSG00000170955 OTTHUMG00000133378 uc001mcu.2 AF339881 NM_145040 CCDS7762 Q969G5 9054438 MGI:1923422 RGD:628755 618303 HGNC:9400 "ENST00000303927.4|NM_145040.3" +HGNC:33742 CAVIN4 caveolae associated protein 4 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 cavin-4 muscle-restricted coiled-coil protein MURC "muscle-related coiled-coil protein|muscle related coiled-coil protein" Cavins 1326 2009-02-06 2017-03-24 2017-03-24 2021-05-26 347273 ENSG00000170681 OTTHUMG00000020368 uc004bba.5 BC090888 NM_001018116 CCDS35083 Q5BKX8 "18508909|18332105" MGI:1915266 RGD:1310395 LRG_760|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_760.xml 617714 HGNC:33742 "ENST00000307584.6|NM_001018116.2" +HGNC:28617 CBARP CACN subunit beta associated regulatory protein protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC40084|DOS|BARP" "downstream of STK11|VGCC beta-anchoring and -regulatory protein" C19orf26 "chromosome 19 open reading frame 26|calcium channel, voltage-dependent, beta subunit associated regulatory protein|CACN beta subunit associated regulatory protein" 2004-03-17 2015-07-16 2018-04-23 2018-04-23 255057 ENSG00000099625 OTTHUMG00000180141 BC028156 NM_152769 CCDS12057 Q8N350 24751537 MGI:1354170 RGD:1307185 HGNC:28617 "ENST00000650044.2|NM_001393918.1" +HGNC:55285 CBARP-DT CBARP divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Divergent transcripts 1990 2020-10-14 2020-10-14 118827813 ENSG00000267778 XR_007067081 +HGNC:1536 CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 protein-coding gene gene with protein product Approved 20q11.21-q11.22 20q11.21-q11.22 "MTGR1|ZMYND3" "core-binding factor, runt domain, alpha subunit 2; translocated to, 2|CBFA2/RUNX1 translocation partner 2" Zinc fingers MYND-type 87 1999-05-07 2019-05-16 2020-09-17 9139 ENSG00000078699 OTTHUMG00000032261 uc002wze.2 AF052210 NM_001032999 "CCDS13221|CCDS46590" O43439 9790752 MGI:1333833 RGD:1309088 603672 HGNC:1536 "ENST00000342704.11|NM_001032999.3" +HGNC:1537 CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "MTGR2|ZMYND4|MTG16|RUNX1T3|ETO2" myeloid translocation gene 8 and 16b "core-binding factor, runt domain, alpha subunit 2; translocated to, 3|CBFA2/RUNX1 translocation partner 3" "Zinc fingers MYND-type|A-kinase anchoring proteins" "87|396" 1998-08-13 2019-05-17 2020-09-17 863 ENSG00000129993 OTTHUMG00000137864 uc002fmm.3 AF052213 NM_005187 "CCDS10972|CCDS10973" O75081 "9790752|20150326" MGI:1338013 RGD:1310547 CBFA2T3 603870 331749 HGNC:1537 "ENST00000268679.9|NM_005187.6" +HGNC:1539 CBFB core-binding factor subunit beta protein-coding gene gene with protein product Approved 16q22.1 16q22.1 PEBP2B "core-binding factor, beta subunit|core-binding factor beta subunit" 1993-12-07 2018-04-23 2021-04-13 865 ENSG00000067955 OTTHUMG00000137520 uc002era.4 BC018509 NM_001755 "CCDS10827|CCDS45508" Q13951 "8351518|7587111" MGI:99851 RGD:620493 LRG_1364|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1364.xml CBFB 121360 171659 HGNC:1539 "ENST00000412916.7|NM_022845.3" +HGNC:1541 CBL Cbl proto-oncogene protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "RNF55|c-Cbl" oncogene CBL2 CBL2 "Cas-Br-M (murine) ecotropic retroviral transforming sequence|Cbl proto-oncogene, E3 ubiquitin protein ligase" Ring finger proteins 58 1989-06-30 2016-04-26 2021-04-13 867 ENSG00000110395 OTTHUMG00000166170 uc001pwe.6 X57110 NM_005188 CCDS8418 P22681 2013228 MGI:88279 RGD:1561386 LRG_608|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_608.xml CBL 165360 242915 HGNC:1541 "ENST00000264033.6|NM_005188.4" HGNC:1541 +HGNC:1542 CBLB Cbl proto-oncogene B protein-coding gene gene with protein product Approved 3q13.11 03q13.11 "RNF56|Cbl-b" "Cas-Br-M (murine) ectropic retroviral transforming sequence b|Cas-Br-M (murine) ecotropic retroviral transforming sequence b|Cbl proto-oncogene B, E3 ubiquitin protein ligase" Ring finger proteins 58 1995-12-18 2016-04-26 2021-04-13 868 ENSG00000114423 OTTHUMG00000150654 uc003dwc.4 U26710 NM_170662 "CCDS87116|CCDS2948" Q13191 7784085 MGI:2146430 RGD:620535 LRG_1179|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1179.xml CBLB 604491 HGNC:1542 "ENST00000394030.8|NM_170662.5" +HGNC:15961 CBLC Cbl proto-oncogene C protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "CBL-3|CBL-SL|RNF57" "Cas-Br-M (murine) ectropic retroviral transforming sequence c|Cas-Br-M (murine) ecotropic retroviral transforming sequence c|Cbl proto-oncogene C, E3 ubiquitin protein ligase" Ring finger proteins 58 2001-06-25 2016-04-26 2021-04-13 23624 ENSG00000142273 OTTHUMG00000150715 uc002ozs.4 AB028645 NM_012116 "CCDS12643|CCDS46109" Q9ULV8 "10362357|10571044" MGI:1931457 RGD:1307651 LRG_1161|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1161.xml CBLC 608453 HGNC:15961 "ENST00000647358.2|NM_012116.4" +HGNC:4268 CBLIF cobalamin binding intrinsic factor protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "TCN3|IF|IFMH|INF" GIF "gastric intrinsic factor (vitamin B synthesis)|gastric intrinsic factor" 1989-06-30 2018-10-17 2018-10-17 2018-10-17 2694 ENSG00000134812 OTTHUMG00000167399 uc001noi.4 X76562 NM_005142 CCDS7977 P27352 2071148 MGI:1202394 RGD:62084 609342 122099 HGNC:4268 "ENST00000257248.3|NM_005142.3" HGNC:4268 +HGNC:21225 CBLL1 Cbl proto-oncogene like 1 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "HAKAI|FLJ23109|RNF188" Casitas B-lineage lymphoma-like "Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1|Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase|Cbl proto-oncogene like 1, E3 ubiquitin protein ligase" "Ring finger proteins|WTAP complex" "58|1420" 2003-07-21 2016-04-26 2016-04-26 79872 ENSG00000105879 OTTHUMG00000154809 uc003veq.4 AK026762 NM_024814 "CCDS64754|CCDS5747" Q75N03 "11836526|11944035" MGI:2144842 RGD:1310703 606872 HGNC:21225 "ENST00000440859.8|NM_024814.4" +HGNC:55571 CBLL1-AS1 CBLL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 Antisense RNAs 1987 2021-04-21 2021-04-21 101927974 ENSG00000241764 NR_144537 +HGNC:55074 CBLL1P1 CBLL1 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 2020-06-12 2020-11-11 100128122 ENSG00000233433 NG_022634 PGOHUM00000304827 +HGNC:26371 CBLL2 Cbl proto-oncogene like 2 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "FLJ25735|HAKAIL|CT138" ZNF645 zinc finger protein 645 Ring finger proteins 58 2004-11-16 2018-01-19 2018-01-19 2020-04-02 158506 ENSG00000175809 OTTHUMG00000021242 uc004dai.4 AK098601 NM_152577 CCDS14205 Q8N7E2 20657603 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF645 HGNC:26371 "ENST00000323684.4|NM_152577.4" +HGNC:1543 CBLN1 cerebellin 1 precursor protein-coding gene gene with protein product Approved 16q12.1 16q12.1 C1q domain containing 1641 1995-03-06 2020-09-17 869 ENSG00000102924 OTTHUMG00000133148 uc002efq.4 M58583 NM_004352 CCDS10736 P23435 "7877445|1704129" MGI:88281 RGD:1562813 600432 HGNC:1543 "ENST00000219197.11|NM_004352.4" +HGNC:1544 CBLN2 cerebellin 2 precursor protein-coding gene gene with protein product Approved 18q22.3 18q22.3 C1q domain containing 1641 1995-03-06 2020-09-17 147381 ENSG00000141668 OTTHUMG00000132825 uc002lkv.3 BC035789 NM_182511 CCDS11999 Q8IUK8 7877445 MGI:88282 RGD:1309715 600433 HGNC:1544 "ENST00000269503.9|NM_182511.4" +HGNC:20146 CBLN3 cerebellin 3 precursor protein-coding gene gene with protein product Approved 14q12 14q12 C1q domain containing 1641 2002-12-18 2020-01-06 643866 ENSG00000139899 OTTHUMG00000171315 uc001wpg.5 AY359070 NM_001039771 CCDS32057 Q6UW01 12975309 MGI:1889286 RGD:1563731 612978 HGNC:20146 "ENST00000267406.11|NM_001039771.3" +HGNC:16231 CBLN4 cerebellin 4 precursor protein-coding gene gene with protein product Approved 20q13.2 20q13.2 dJ885A10.1 CBLNL1 cerebellin precursor-like 1 C1q domain containing 1641 2001-07-17 2004-08-19 2004-08-19 2016-10-05 140689 ENSG00000054803 OTTHUMG00000032782 uc002xxa.5 AY358527 NM_080617 CCDS13448 Q9NTU7 MGI:2154433 RGD:1589642 615029 HGNC:16231 "ENST00000064571.3|NM_080617.6" +HGNC:1548 CBR1 carbonyl reductase 1 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 SDR21C1 short chain dehydrogenase/reductase family 21C, member 1 CBR Short chain dehydrogenase/reductase superfamily 743 1991-02-20 2020-09-17 873 ENSG00000159228 OTTHUMG00000086618 uc002yvb.3 NM_001286789 "CCDS13641|CCDS68202" P16152 "8432528|19027726" MGI:88284 RGD:2286 114830 objectId:1383 1.1.1.184 HGNC:1548 "ENST00000290349.11|NM_001757.4" +HGNC:55777 CBR1-AS1 CBR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 Antisense RNAs 1987 2021-07-23 2021-07-23 100133286 ENSG00000230212 NR_040084 +HGNC:1549 CBR3 carbonyl reductase 3 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 SDR21C2 short chain dehydrogenase/reductase family 21C, member 2 Short chain dehydrogenase/reductase superfamily 743 1998-01-16 2020-09-17 874 ENSG00000159231 OTTHUMG00000086617 uc002yve.4 AB004854 NM_001236 CCDS13642 O75828 "9740676|19027726" MGI:1309992 RGD:1309728 603608 1.1.1.184 HGNC:1549 "ENST00000290354.6|NM_001236.4" +HGNC:43664 CBR3-AS1 CBR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 PlncRNA-1 prostate cancer-up-regulated long noncoding RNA 1 CBR3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-08 2012-08-15 2017-08-30 100506428 ENSG00000236830 OTTHUMG00000086607 uc061zxr.1 BC038671 NR_038892 "22264502|24337686|28835319" CBR3-AS1 HGNC:43664 +HGNC:25891 CBR4 carbonyl reductase 4 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "FLJ14431|SDR45C1" short chain dehydrogenase/reductase family 45C, member 1 Short chain dehydrogenase/reductase superfamily 743 2006-03-21 2015-09-11 84869 ENSG00000145439 OTTHUMG00000161025 uc003iry.4 BC021973 NM_032783 CCDS3812 Q8N4T8 19027726 MGI:2384567 RGD:727826 619394 1.1.1.- HGNC:25891 "ENST00000306193.8|NM_032783.5" +HGNC:55540 CBR4-DT CBR4 divergent transcript non-coding RNA RNA, long non-coding Approved 4q32.3 04q32.3 Divergent transcripts 1990 2021-03-24 2021-03-24 121009646 ENSG00000251445 +HGNC:1550 CBS cystathionine beta-synthase protein-coding gene gene with protein product Approved 21q22.3 21q22.3 HIP4 cystathionine-beta-synthase 2001-06-22 2019-07-05 2021-04-13 875 ENSG00000160200 OTTHUMG00000086834 uc002zcv.3 L14577 NM_000071 CCDS13693 P35520 9790750 MGI:88285 RGD:2287 "Cystathionine beta-synthase database|http://cbs.lf1.cuni.cz/index.php|LRG_777|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_777.xml" 613381 119199 objectId:1443 4.2.1.22 HGNC:1550 "ENST00000398165.8|NM_000071.3" HGNC:1550 +HGNC:17134 CBWD1 COBW domain containing 1 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 2001-11-26 2021-09-30 55871 ENSG00000172785 OTTHUMG00000019425 uc064rtg.1 AY343911 NM_018491 "CCDS47948|CCDS47947|CCDS6438" Q9BRT8 "15233989|12421752" MGI:2385089 RGD:708495 611078 HGNC:17134 +HGNC:17907 CBWD2 COBW domain containing 2 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 2002-01-08 2021-09-30 150472 ENSG00000136682 OTTHUMG00000131360 uc002tju.4 AF452722 NM_172003 "CCDS82502|CCDS2116" Q8IUF1 "12421752|15233989" MGI:2385089 611079 HGNC:17907 "ENST00000259199.9|NM_172003.3" +HGNC:18519 CBWD3 COBW domain containing 3 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 bA561O23.1 2004-08-25 2021-09-30 445571 ENSG00000196873 OTTHUMG00000184383 uc004agi.6 BC069006 NM_201453 CCDS35038 Q5JTY5 "15233989|12421752" MGI:2385089 611080 HGNC:18519 "ENST00000360171.11|NM_201453.4" +HGNC:18520 CBWD4P COBW domain containing 4, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 2004-08-25 2019-07-30 2021-09-30 653510 ENSG00000204778 OTTHUMG00000013333 NG_027949 HGNC:18520 +HGNC:24584 CBWD5 COBW domain containing 5 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 dopamine responsive protein 2005-08-23 2021-09-30 220869 ENSG00000147996 OTTHUMG00000013336 uc004aga.6 "BC067803|BC082271" NM_001024916 "CCDS75844|CCDS87654|CCDS75843|CCDS75841|CCDS83367" Q5RIA9 MGI:2385089 HGNC:24584 "ENST00000382405.8|NM_001330668.2" +HGNC:31978 CBWD6 COBW domain containing 6 protein-coding gene gene with protein product Approved 9p11.2 09p11.2 "OTTHUMG00000066820|OTTHUMG00000067194" CBWD7 COBW domain containing 7 2006-06-30 2021-09-30 644019 ENSG00000215126 OTTHUMG00000067194 NM_001085457 CCDS43827 Q4V339 MGI:2385089 HGNC:31978 "ENST00000377391.8|NM_001085457.2" +HGNC:1551 CBX1 chromobox 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HP1Hs-beta|M31|MOD1|CBX|HP1-BETA" HP1 beta homolog (Drosophila ) "chromobox homolog 1 (Drosophila HP1 beta)|chromobox homolog 1" Chromobox family 976 1999-10-12 2015-11-24 2020-09-17 10951 ENSG00000108468 OTTHUMG00000150417 uc002ine.4 U35451 NM_006807 CCDS11525 P83916 9169582 MGI:105369 RGD:1310714 604511 HGNC:1551 "ENST00000225603.9|NM_001127228.2" +HGNC:38655 CBX1P1 chromobox 1 pseudogene 1 pseudogene pseudogene Approved Xq11.1 Xq11.1 chromobox homolog 1 pseudogene 1 2010-07-06 2015-11-24 2015-11-24 645251 ENSG00000230823 OTTHUMG00000021695 NG_007614 PGOHUM00000241348 HGNC:38655 +HGNC:38656 CBX1P2 chromobox 1 pseudogene 2 pseudogene pseudogene Approved Xp22.2 Xp22.2 chromobox homolog 1 pseudogene 2 2010-07-06 2015-11-24 2016-10-05 100147811 ENSG00000214322 OTTHUMG00000021200 NG_007618 PGOHUM00000241201 HGNC:38656 +HGNC:38657 CBX1P3 chromobox 1 pseudogene 3 pseudogene pseudogene Approved 1q32.1 01q32.1 chromobox homolog 1 pseudogene 3 2010-07-06 2015-11-24 2015-11-24 100128723 ENSG00000237379 OTTHUMG00000036053 NG_007647 PGOHUM00000245170 HGNC:38657 +HGNC:38658 CBX1P4 chromobox 1 pseudogene 4 pseudogene pseudogene Approved Xp22.2 Xp22.2 chromobox homolog 1 pseudogene 4 2010-07-06 2015-11-24 2020-04-20 100130461 ENSG00000214321 OTTHUMG00000021201 NG_007646 PGOHUM00000241655 HGNC:38658 +HGNC:21006 CBX1P5 chromobox 1 pseudogene 5 pseudogene pseudogene Approved 3q26.1 03q26.1 CBX9 "chromobox homolog 9|chromobox homolog 1 pseudogene 5" 2004-03-10 2010-07-06 2015-11-24 2020-04-20 100133259 ENSG00000231516 OTTHUMG00000158232 NG_007645 PGOHUM00000238256 HGNC:21006 +HGNC:1552 CBX2 chromobox 2 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC10561|M33" Pc class homolog (Drosophila) CDCA6 "chromobox homolog 2 (Drosophila Pc class)|cell division cycle associated 6|chromobox homolog 2" Chromobox family 976 1994-05-25 2015-11-24 2021-05-26 84733 ENSG00000173894 OTTHUMG00000177463 uc002jxc.4 "BC004252|BG354579" NM_032647 "CCDS32757|CCDS11764" Q14781 "7782071|2477932" MGI:88289 RGD:1588561 602770 240686 HGNC:1552 "ENST00000310942.9|NM_005189.3" HGNC:1552 +HGNC:1553 CBX3 chromobox 3 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 HP1Hs-gamma HP1 gamma homolog (Drosophila) "chromobox homolog 3 (Drosophila HP1 gamma)|chromobox homolog 3" Chromobox family 976 1999-10-12 2015-11-24 2020-09-17 11335 ENSG00000122565 OTTHUMG00000022911 uc003sxt.4 U26312 NM_007276 CCDS5398 Q13185 8663349 MGI:108515 RGD:1549705 604477 HGNC:1553 "ENST00000396386.7|NM_016587.4" +HGNC:33950 CBX3P1 chromobox 3 pseudogene 1 pseudogene pseudogene Approved 11p14.1 11p14.1 chromobox homolog 3 pseudogene 1 2008-01-23 2015-11-24 2015-11-24 159770 ENSG00000177447 OTTHUMG00000150411 AF063304 NG_001315 PGOHUM00000242624 HGNC:33950 +HGNC:42874 CBX3P2 chromobox 3 pseudogene 2 pseudogene pseudogene Approved 18p11.32 18p11.32 chromobox homolog 3 pseudogene 2 2011-09-05 2015-11-24 2020-04-07 645158 ENSG00000266405 OTTHUMG00000178336 NR_033754 PGOHUM00000234840 HGNC:42874 +HGNC:42875 CBX3P3 chromobox 3 pseudogene 3 pseudogene pseudogene Approved 5q22.2 05q22.2 chromobox homolog 3 pseudogene 3 2011-09-05 2015-11-24 2015-11-24 100421861 ENSG00000250045 OTTHUMG00000162857 NG_024619 PGOHUM00000235359 HGNC:42875 +HGNC:42876 CBX3P4 chromobox 3 pseudogene 4 pseudogene pseudogene Approved 12p13.33 12p13.33 chromobox homolog 3 pseudogene 4 2011-09-05 2015-11-24 2015-11-24 100873792 ENSG00000256030 OTTHUMG00000168104 NG_032536 PGOHUM00000239295 HGNC:42876 +HGNC:42877 CBX3P5 chromobox 3 pseudogene 5 pseudogene pseudogene Approved 12q22 12q22 chromobox homolog 3 pseudogene 5 2011-09-05 2015-11-24 2015-11-24 100421943 ENSG00000257666 OTTHUMG00000170215 NG_024039 PGOHUM00000239549 HGNC:42877 +HGNC:42878 CBX3P6 chromobox 3 pseudogene 6 pseudogene pseudogene Approved 2q24.1 02q24.1 chromobox homolog 3 pseudogene 6 2011-09-05 2015-11-24 2015-11-24 642721 ENSG00000228837 OTTHUMG00000150419 NG_021530 PGOHUM00000240392 HGNC:42878 +HGNC:42879 CBX3P7 chromobox 3 pseudogene 7 pseudogene pseudogene Approved 11q14.3 11q14.3 chromobox homolog 3 pseudogene 7 2011-09-05 2015-11-24 2015-11-24 100421975 ENSG00000197692 OTTHUMG00000167295 NG_008748 PGOHUM00000242404 HGNC:42879 +HGNC:42880 CBX3P8 chromobox 3 pseudogene 8 pseudogene pseudogene Approved 11p11.12 11p11.12 chromobox homolog 3 pseudogene 8 2011-09-05 2015-11-24 2015-11-24 100286965 ENSG00000254496 OTTHUMG00000166649 NG_021817 PGOHUM00000242686 HGNC:42880 +HGNC:42881 CBX3P9 chromobox 3 pseudogene 9 pseudogene pseudogene Approved 6q22.1 06q22.1 chromobox homolog 3 pseudogene 9 2011-09-05 2015-11-24 2015-11-24 644101 ENSG00000217241 OTTHUMG00000015436 NG_022324 PGOHUM00000243340 HGNC:42881 +HGNC:1554 CBX4 chromobox 4 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "hPC2|PC2|NBP16" "NS5ATP1-binding protein 16|Pc class 2 homolog (Drosophila)" "chromobox homolog 4 (Drosophila Pc class)|chromobox homolog 4" Chromobox family 976 1998-10-20 2015-11-24 2020-09-17 8535 ENSG00000141582 OTTHUMG00000150415 uc002jxe.4 AF013956 NM_003655 CCDS32758 O00257 9315667 MGI:1195985 RGD:1587243 603079 HGNC:1554 "ENST00000269397.9|NM_003655.3" +HGNC:1555 CBX5 chromobox 5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HP1Hs-alpha|HP1|HP1-ALPHA" HP1 alpha homolog (Drosophila) "chromobox homolog 5 (Drosophila HP1 alpha)|chromobox homolog 5 (HP1 alpha homolog, Drosophila)|chromobox homolog 5" "Chromobox family|MicroRNA protein coding host genes" "976|1691" 1999-10-12 2015-11-24 2020-09-17 23468 ENSG00000094916 OTTHUMG00000169700 uc001sfk.6 U26311 NM_012117 CCDS8875 P45973 8663349 MGI:109372 RGD:1306619 604478 HGNC:1555 "ENST00000209875.9|NM_012117.3" +HGNC:38659 CBX5P1 chromobox 5 pseudogene 1 pseudogene pseudogene Approved 3p11.1 03p11.1 chromobox homolog 5 pseudogene 1 2010-07-06 2015-11-24 2015-11-24 100151661 ENSG00000241535 OTTHUMG00000159062 NG_007668 PGOHUM00000237674 HGNC:38659 +HGNC:1556 CBX6 chromobox 6 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 chromobox homolog 6 Chromobox family 976 1999-10-13 2015-11-24 2020-09-17 23466 ENSG00000183741 OTTHUMG00000150456 uc003awl.4 NM_014292 "CCDS13980|CCDS77675" O95503 MGI:3512628 RGD:1307314 617438 HGNC:1556 "ENST00000407418.8|NM_014292.5" +HGNC:1557 CBX7 chromobox 7 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 chromobox homolog 7 Chromobox family 976 1999-10-13 2015-11-24 2020-09-17 23492 ENSG00000100307 OTTHUMG00000150418 uc003axb.4 NM_175709 "CCDS87028|CCDS13986" O95931 MGI:1196439 RGD:735027 608457 HGNC:1557 "ENST00000216133.10|NM_175709.5" +HGNC:15962 CBX8 chromobox 8 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "RC1|HPC3|PC3" "polycomb 3|Pc class 3 homolog (Drosophila)" "chromobox homolog 8 (Drosophila Pc class)|chromobox homolog 8" Chromobox family 976 2001-06-25 2015-11-24 2021-05-26 57332 ENSG00000141570 OTTHUMG00000150416 uc002jxd.3 AF174482 NM_020649 CCDS11765 Q9HC52 10825164 MGI:1353589 RGD:1565375 617354 HGNC:15962 "ENST00000269385.9|NM_020649.3" HGNC:15962 +HGNC:1307 CBY1 chibby family member 1, beta catenin antagonist protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "PIGEA14|PIGEA-14|Chibby|Cby|Chibby1" chibby CTNNB1-mediated transcription inhibitor "C22orf2|PGEA1" "chromosome 22 open reading frame 2|PKD2 interactor, golgi and endoplasmic reticulum associated 1|chibby homolog 1 (Drosophila)" 2000-03-29 2007-01-26 2016-06-07 2020-09-17 25776 ENSG00000100211 OTTHUMG00000150990 uc003awc.5 BK005534 NM_015373 CCDS13974 Q9Y3M2 "12712206|15194699" MGI:1920989 RGD:708481 607757 HGNC:1307 "ENST00000216029.8|NM_015373.4" HGNC:1307 +HGNC:54769 CBY1P1 CBY1 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 2020-01-08 2020-01-21 100131562 ENSG00000236832 NG_030140 +HGNC:30720 CBY2 chibby family member 2 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 NURIT "spermatid flower-like structure protein|testis specific leucine zipper protein nurit|chibby homolog 2 (Drosophila)" SPERT spermatid associated 2006-03-14 2019-08-05 2019-08-05 2019-08-12 220082 ENSG00000174015 OTTHUMG00000016861 uc001van.3 AK093129 NM_152719 "CCDS66540|CCDS9399" Q8NA61 "12204287|20096028|28560031" MGI:1915176 RGD:1561044 618614 HGNC:30720 "ENST00000310521.6|NM_152719.3" +HGNC:33278 CBY3 chibby family member 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 chibby homolog 3 (Drosophila) 2007-01-29 2016-06-07 2020-04-20 646019 ENSG00000204659 OTTHUMG00000163163 uc021yjf.2 NM_001164444 CCDS47354 A6NI87 MGI:1923903 RGD:1594715 HGNC:33278 "ENST00000376974.5|NM_001164444.2" +HGNC:30237 CC2D1A coiled-coil and C2 domain containing 1A protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "FLJ20241|MRT3|Freud-1|Lgd2|TAPE|Aki-1" "mental retardation, nonsyndromic, autosomal recessive, 3|Five prime repressor element under dual repression-binding protein 1|lethal (2) giant discs homolog 2|TBK1-associated protein in endolysosomes|Akt Kinase-Interacting Protein 1" C2 domain containing 823 2005-07-05 2021-12-15 54862 ENSG00000132024 OTTHUMG00000181852 uc002mxo.3 AF536205 NM_017721 CCDS42512 Q6P1N0 "12917378|16033914|18662999|21189260" MGI:2384831 RGD:1306108 610055 119202 HGNC:30237 "ENST00000318003.11|NM_017721.5" HGNC:30237 +HGNC:29386 CC2D1B coiled-coil and C2 domain containing 1B protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "KIAA1836|Freud-2|Lgd1" "Five prime repressor element under dual repression-binding protein 2|lethal (2) giant discs homolog 1" C2 domain containing 823 2005-07-05 2021-12-15 200014 ENSG00000154222 OTTHUMG00000008102 uc001ctq.3 AB058739 NM_032449 "CCDS30714|CCDS81323" Q5T0F9 "11347906|17394259" MGI:2443076 RGD:1306630 HGNC:29386 "ENST00000284376.8|NM_001330585.2" +HGNC:29253 CC2D2A coiled-coil and C2 domain containing 2A protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "KIAA1345|MKS6|JBTS9" Meckel syndrome, type 6 MKS complex 1545 2007-10-19 2007-10-19 2021-12-15 57545 ENSG00000048342 OTTHUMG00000160255 uc062vgy.1 "AB037766|EU450799" NM_001080522 "CCDS54744|CCDS47027|CCDS47026" Q9P2K1 "10718198|18513680" MGI:1924487 RGD:1561042 LRG_697|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_697.xml 612013 159539 HGNC:29253 "ENST00000424120.6|NM_001378615.1" HGNC:29253 +HGNC:31666 CC2D2B coiled-coil and C2 domain containing 2B protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "bA248J23.4|bA690P14.3" "C10orf130|C10orf131" "chromosome 10 open reading frame 130|chromosome 10 open reading frame 131" 2004-05-27 2007-10-19 2007-10-19 2021-12-15 387707 ENSG00000188649 OTTHUMG00000191767 uc001kll.4 BC075861 NM_001349008 "CCDS41555|CCDS58090|CCDS53560" Q6DHV5 RGD:1310408 HGNC:31666 "ENST00000646931.3|NM_001349008.3" +HGNC:24236 CCAR1 cell division cycle and apoptosis regulator 1 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "FLJ10590|CARP-1|CARP1" "Spliceosomal A complex|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1504|1691|1835" 2004-02-19 2016-10-05 55749 ENSG00000060339 OTTHUMG00000018361 uc001joo.5 AY249140 NM_018237 "CCDS7282|CCDS60547" Q8IX12 12816952 MGI:1914750 RGD:1560358 612569 HGNC:24236 "ENST00000265872.11|NM_018237.4" +HGNC:23360 CCAR2 cell cycle and apoptosis regulator 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DBC-1|DBC1|NET35" deleted in breast cancer 1 KIAA1967 KIAA1967 2004-11-08 2013-08-22 2013-08-22 2021-05-26 57805 ENSG00000158941 OTTHUMG00000162249 AL834351 NM_021174 CCDS34863 Q8N163 12370419 MGI:2444228 RGD:1309922 607359 HGNC:23360 "ENST00000308511.9|NM_001393997.1" +HGNC:45128 CCAT1 colon cancer associated transcript 1 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "CARLo-5|onco-lncRNA-40" colon cancer associated transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-02-14 2018-05-16 2020-01-22 100507056 OTTHUMG00000165065 uc003ysa.4 "HM358356|AK125310" NR_108049 "23416875|23143645|21547902|24594601" 617705 ccat1 HGNC:45128 +HGNC:47044 CCAT2 colon cancer associated transcript 2 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "NCCP1|LINC00873" "long intergenic non-protein coding RNA 873|non-coding RNA involved in cancer predisposition 1" colon cancer associated transcript 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-06-22 2018-05-16 2018-05-16 101805488 ENSG00000280997 OTTHUMG00000189734 GQ911591 NR_109834 "23796952|24504682" 619403 ccat2 HGNC:47044 +HGNC:29426 CCBE1 collagen and calcium binding EGF domains 1 protein-coding gene gene with protein product Approved 18q21.32 18q21.32 "FLJ30681|KIAA1983" 2005-01-18 2021-05-26 147372 ENSG00000183287 OTTHUMG00000180087 uc002lib.4 AB075863 NM_133459 CCDS32838 Q6UXH8 "11853319|12975309" MGI:2445053 RGD:1307670 LRG_1209|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1209.xml 612753 220744 HGNC:29426 "ENST00000439986.9|NM_133459.4" HGNC:29426 +HGNC:23813 CCDC3 coiled-coil domain containing 3 protein-coding gene gene with protein product Approved 10p13 10p13 DKFZp761F241 favine 2004-02-13 2016-10-05 83643 ENSG00000151468 OTTHUMG00000017689 uc001ilq.2 BC051334 NM_031455 "CCDS7093|CCDS60484" Q9BQI4 20043878 MGI:1921436 RGD:1559473 HGNC:23813 "ENST00000378825.5|NM_031455.4" +HGNC:18782 CCDC6 coiled-coil domain containing 6 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "PTC|TPC|H4" DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1 "TST1|D10S170" DNA segment on chromosome 10 (unique) 170 2004-01-20 2004-01-20 2014-11-19 8030 ENSG00000108091 OTTHUMG00000018284 uc001jks.5 S72869 NM_005436 CCDS7257 Q16204 "8058316|6745938" MGI:1923801 RGD:1587433 CCDC6 601985 119206 HGNC:18782 "ENST00000263102.7|NM_005436.5" +HGNC:26533 CCDC7 coiled-coil domain containing 7 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "FLJ32762|FLJ13031|BIOT2" C10orf68 chromosome 10 open reading frame 68 2004-02-04 2020-04-20 79741 ENSG00000216937 OTTHUMG00000150517 uc001iwn.5 BC022020 NM_145023 "CCDS7173|CCDS86081" Q96M83 21109960 "MGI:1921953|MGI:1922703" RGD:1359250 619444 HGNC:26533 HGNC:26533 +HGNC:25367 CCDC8 coiled-coil domain containing 8 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "DKFZp564K0322|3M3|PPP1R20" protein phosphatase 1, regulatory subunit 20 Protein phosphatase 1 regulatory subunits 694 2004-02-11 2021-04-13 83987 ENSG00000169515 OTTHUMG00000162348 uc002pep.4 BC025243 NM_032040 CCDS12685 Q9H0W5 11230166 MGI:3612184 RGD:1359717 LRG_1258|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1258.xml 614145 270465 HGNC:25367 "ENST00000307522.5|NM_032040.5" HGNC:25367 +HGNC:24560 CCDC9 coiled-coil domain containing 9 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 DKFZP586M1019 2004-02-11 2016-10-05 26093 ENSG00000105321 OTTHUMG00000183503 uc010xym.3 AL050284 NM_015603 CCDS12698 Q9Y3X0 11230166 MGI:1921443 RGD:1584422 HGNC:24560 "ENST00000221922.11|NM_015603.3" +HGNC:33488 CCDC9B coiled-coil domain containing 9B protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ43339 C15orf52 chromosome 15 open reading frame 52 2007-06-14 2017-10-09 2017-10-09 2017-10-09 388115 ENSG00000188549 OTTHUMG00000129981 uc001zlh.5 AK124643 NM_207380 CCDS10055 Q6ZUT6 MGI:2685199 RGD:1565536 HGNC:33488 "ENST00000397536.7|NM_207380.3" +HGNC:28332 CCDC12 coiled-coil domain containing 12 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC23918 "Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1508|1510|1516" 2005-01-25 2019-02-18 151903 ENSG00000160799 OTTHUMG00000133513 uc062jbe.1 BC020830 NM_144716 "CCDS63612|CCDS2748" Q8WUD4 22269669 MGI:1919904 RGD:1306081 HGNC:28332 "ENST00000683445.1|NM_001277074.2" +HGNC:54595 CCDC12P1 CCDC12 pseudogene 1 pseudogene pseudogene Approved 2p16.3 02p16.3 2019-10-16 2020-01-21 100131852 ENSG00000226366 NG_012227 +HGNC:26358 CCDC13 coiled-coil domain containing 13 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ25467 2005-01-25 2019-02-18 152206 ENSG00000244607 OTTHUMG00000133046 uc003cly.5 AK058196 NM_144719 CCDS2705 Q8IYE1 24816561 MGI:1920144 RGD:1586605 HGNC:26358 "ENST00000310232.11|NM_144719.4" +HGNC:41142 CCDC13-AS1 CCDC13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 CCDC13 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874114 ENSG00000173811 OTTHUMG00000156256 uc062irr.1 NR_046732 CCDC13-AS1 HGNC:41142 +HGNC:53019 CCDC13-AS2 CCDC13 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 LINC02158 long intergenic non-protein coding RNA 2158 Antisense RNAs 1987 2017-01-06 2021-08-12 2021-08-12 2021-08-12 729083 ENSG00000225611 OTTHUMG00000156257 BC038366 NR_122070 28003470 HGNC:53019 +HGNC:25766 CCDC14 coiled-coil domain containing 14 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "FLJ12892|DKFZp434L1050" 2005-02-04 2019-02-18 64770 ENSG00000175455 OTTHUMG00000153005 uc010hrt.4 AL122079 NM_022757 CCDS77806 Q49A88 24613305 MGI:2443448 RGD:1562189 617147 HGNC:25766 "ENST00000409697.8|NM_001366335.1" +HGNC:25798 CCDC15 coiled-coil domain containing 15 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ13215 2005-03-13 2018-11-12 80071 ENSG00000149548 OTTHUMG00000165940 uc001qbm.6 BC018540 NM_025004 CCDS44756 Q0P6D6 MGI:2444488 RGD:1305591 HGNC:25798 "ENST00000344762.6|NM_025004.3" +HGNC:54193 CCDC15-DT CCDC15 divergent transcript non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 Divergent transcripts 1990 2019-02-28 2019-02-28 105369547 ENSG00000285825 XR_948132 HGNC:54193 +HGNC:26574 CCDC17 coiled-coil domain containing 17 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 FLJ33084 2005-05-13 2016-04-25 149483 ENSG00000159588 OTTHUMG00000007822 uc010olt.3 NM_152500 "CCDS44131|CCDS53314" Q96LX7 MGI:1915667 RGD:1598211 HGNC:26574 "ENST00000528266.6|NM_001114938.3" +HGNC:30370 CCDC18 coiled-coil domain containing 18 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 NY-SAR-41 2005-06-24 2015-08-26 343099 ENSG00000122483 OTTHUMG00000010598 uc057iix.1 NM_206886 "CCDS76180|CCDS41356" Q5T9S5 12601173 MGI:1922974 RGD:1564165 HGNC:30370 "ENST00000690025.1|NM_001378204.1" +HGNC:52262 CCDC18-AS1 CCDC18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.1 01p22.1 ENST00000440778.1 Antisense RNAs 1987 2015-11-04 2015-11-04 100131564 ENSG00000223745 OTTHUMG00000010705 NR_034089 26421281 CCDC18-AS1 HGNC:52262 +HGNC:28909 CCDC22 coiled-coil domain containing 22 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 JM1 CXorf37 chromosome X open reading frame 37 CCC complex 1557 2004-09-01 2005-07-24 2005-07-24 2020-04-02 28952 ENSG00000101997 OTTHUMG00000024141 uc004dnd.2 BC000972 NM_014008 CCDS14322 O60826 25355947 MGI:1859608 RGD:1560910 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CCDC22 300859 410622 HGNC:28909 "ENST00000376227.4|NM_014008.5" HGNC:28909 +HGNC:28688 CCDC24 coiled-coil domain containing 24 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 MGC45441 2005-07-26 2015-08-26 149473 ENSG00000159214 OTTHUMG00000008299 uc001clj.4 NM_152499 CCDS507 Q8N4L8 12477932 MGI:2685874 RGD:1562911 HGNC:28688 "ENST00000372318.8|NM_152499.4" +HGNC:25591 CCDC25 coiled-coil domain containing 25 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 FLJ10853 2005-07-29 2019-02-18 55246 ENSG00000147419 OTTHUMG00000132173 uc003xgc.4 AK001715 NM_018246 "CCDS78324|CCDS78323|CCDS6062" Q86WR0 28789463 MGI:1914429 RGD:1307689 619100 HGNC:25591 "ENST00000356537.9|NM_018246.3" +HGNC:28416 CCDC26 CCDC26 long non-coding RNA non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "MGC27434|RAM" retinoic acid modulator coiled-coil domain containing 26 Long non-coding RNAs with non-systematic symbols 1992 2005-08-05 2014-03-27 2016-11-24 137196 ENSG00000229140 OTTHUMG00000164848 uc064qez.1 BC026098 NR_130917 Q8TAB7 "16449964|23399484" 613040 ccdc26 CCDC26 HGNC:28416 +HGNC:26546 CCDC27 coiled-coil domain containing 27 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 FLJ32825 2005-08-09 2014-11-19 148870 ENSG00000162592 OTTHUMG00000003504 uc001akv.3 NM_152492 CCDS50 Q2M243 MGI:2685881 RGD:1587099 HGNC:26546 "ENST00000294600.7|NM_152492.3" +HGNC:21098 CCDC28A coiled-coil domain containing 28A protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "CCRL1AP|DKFZp586D0623" C6orf80 chromosome 6 open reading frame 80 2003-05-19 2005-09-12 2005-09-12 2016-10-05 25901 ENSG00000024862 OTTHUMG00000015683 uc063rvk.1 AY167571 NM_015439 CCDS5192 Q8IWP9 MGI:2443508 RGD:1310326 615353 HGNC:21098 "ENST00000617445.5|NM_015439.3" +HGNC:51715 CCDC28A-AS1 CCDC28A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.1 06q24.1 GVQW2 GVQW motif containing 2 Antisense RNAs 1987 2015-09-17 2019-10-30 2019-10-30 2020-10-13 100507462 ENSG00000279968 OTTHUMG00000189248 NR_161203 A0A096LPI5 HGNC:51715 +HGNC:28163 CCDC28B coiled-coil domain containing 28B protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "MGC1203|RP4-622L5.5" 2005-09-12 2016-10-05 79140 ENSG00000160050 OTTHUMG00000005738 uc001bul.2 BC022848 NM_024296 "CCDS72749|CCDS354" Q9BUN5 "16327777|23727834" MGI:1913514 RGD:1583447 610162 470044 HGNC:28163 "ENST00000373602.10|NM_024296.5" HGNC:28163 +HGNC:26103 CCDC30 coiled-coil domain containing 30 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FLJ20972|PFD6L|LOC728621" prefoldin 6-like 2009-07-09 2015-08-24 728621 ENSG00000186409 OTTHUMG00000007334 uc057fjg.1 AY639646 NM_025030 "CCDS30690|CCDS85957" Q5VVM6 16710767 MGI:1920582 RGD:1305604 HGNC:26103 +HGNC:28295 CCDC32 coiled-coil domain containing 32 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 MGC20481 C15orf57 chromosome 15 open reading frame 57 2005-10-21 2017-05-22 2017-05-22 2021-05-18 90416 ENSG00000128891 OTTHUMG00000129993 uc059htc.1 BC012189 NM_052849 "CCDS10060|CCDS73706" Q9BV29 33859415 MGI:2685477 RGD:1307516 618941 HGNC:28295 "ENST00000416810.7|NM_001080792.4" HGNC:28295 +HGNC:26552 CCDC33 coiled-coil domain containing 33 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "FLJ32855|CT61" cancer/testis antigen 61 C2 domain containing 823 2005-10-24 2019-08-20 80125 ENSG00000140481 OTTHUMG00000172621 uc002axo.4 BC025689 NM_182791 "CCDS42059|CCDS73753|CCDS42058" Q8N5R6 20068295 MGI:1922464 RGD:1561126 618525 HGNC:26552 "ENST00000398814.8|NM_025055.5" +HGNC:25079 CCDC34 coiled-coil domain containing 34 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "NY-REN-41|L15|RAMA3" 2005-10-28 2020-04-20 91057 ENSG00000109881 OTTHUMG00000166211 uc001mri.2 AF382034 NM_030771 "CCDS7863|CCDS31448" Q96HJ3 11173847 MGI:1915451 RGD:1560583 612324 HGNC:25079 "ENST00000328697.11|NM_030771.2" +HGNC:44008 CCDC34P1 coiled-coil domain containing 34 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 2012-05-28 2012-05-28 100288584 ENSG00000250556 OTTHUMG00000161050 NG_022070 PGOHUM00000246029 HGNC:44008 +HGNC:26843 CCDC38 coiled-coil domain containing 38 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 FLJ40089 2005-11-02 2016-11-09 120935 ENSG00000165972 OTTHUMG00000170352 uc001tek.3 AK097408 NM_182496 CCDS9056 Q502W7 25074808 MGI:2444738 RGD:1564046 HGNC:26843 "ENST00000344280.8|NM_182496.3" +HGNC:25244 CCDC39 coiled-coil domain containing 39 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "DKFZp434A128|CILD14|FAP59|CFAP59" Cilia and flagella associated 1491 2005-11-11 2021-08-17 339829 ENSG00000284862 OTTHUMG00000157857 uc010hxe.4 BC047103 NM_181426 CCDS46964 Q9UFE4 21131972 MGI:1289263 RGD:1306277 613798 246552 HGNC:25244 "ENST00000476379.6|NM_181426.2" HGNC:25244 +HGNC:41089 CCDC39-AS1 CCDC39 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 CCDC39 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874112 ENSG00000243187 OTTHUMG00000157929 uc062qhk.1 CCDC39-AS1 +HGNC:26090 CCDC40 coiled-coil domain containing 40 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ20753|KIAA1640|FLJ32021|CILD15|FAP172|CFAP172" "Cilia and flagella associated|MicroRNA protein coding host genes" "1491|1691" 2005-12-13 2020-02-04 55036 ENSG00000141519 OTTHUMG00000132707 uc010dht.4 AB046860 NM_001243342 "CCDS82212|CCDS58604|CCDS42395" Q4G0X9 21131974 MGI:2443893 RGD:1592118 613799 246554 HGNC:26090 "ENST00000397545.9|NM_017950.4" HGNC:26090 +HGNC:26528 CCDC42 coiled-coil domain containing 42 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ32734|CCDC42A" 2005-12-15 2015-10-06 146849 ENSG00000161973 OTTHUMG00000178565 uc002gln.4 AK057296 NM_144681 "CCDS11145|CCDS54088" Q96M95 MGI:3045254 RGD:1565925 HGNC:26528 "ENST00000293845.8|NM_144681.3" +HGNC:26472 CCDC43 coiled-coil domain containing 43 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ31795 2005-12-16 2019-08-20 124808 ENSG00000180329 OTTHUMG00000181822 uc002ihc.3 AK056357 NM_144609 "CCDS45705|CCDS45704" Q96MW1 30562730 MGI:1289318 RGD:1311929 HGNC:26472 "ENST00000315286.13|NM_144609.3" +HGNC:24856 CCDC47 coiled-coil domain containing 47 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 GK001 Calumin 2005-12-19 2022-01-26 57003 ENSG00000108588 OTTHUMG00000178933 uc002jbs.5 AF226054 NM_020198 CCDS11643 Q96A33 "17204322|25009997|31266804" MGI:1914413 RGD:1308813 618260 HGNC:24856 "ENST00000225726.10|NM_020198.3" +HGNC:18111 CCDC50 coiled-coil domain containing 50 protein-coding gene gene with protein product Approved 3q28 03q28 Ymer "C3orf6|DFNA44" deafness, autosomal dominant 44 2002-01-31 2005-12-23 2021-04-13 152137 ENSG00000152492 OTTHUMG00000156177 uc003fsv.4 AJ416916 NM_174908 "CCDS33913|CCDS33912" Q8IVM0 "16803894|17503326" MGI:1914751 RGD:727841 LRG_1382|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1382.xml 611051 159308 HGNC:18111 "ENST00000392455.9|NM_178335.3" HGNC:18111 +HGNC:25714 CCDC51 coiled-coil domain containing 51 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ12436 2005-12-30 2020-03-10 79714 ENSG00000164051 OTTHUMG00000133534 uc031rzm.2 AK022498 NM_024661 "CCDS58830|CCDS2766" Q96ER9 31435016 MGI:1913908 RGD:1311466 618585 HGNC:25714 "ENST00000395694.7|NM_001256964.2" +HGNC:30703 CCDC54 coiled-coil domain containing 54 protein-coding gene gene with protein product Approved 3q13.12 03q13.12 "NYD-SP17|FLJ25362|SP17" sperm protein 17 2006-01-10 2014-11-18 84692 ENSG00000138483 OTTHUMG00000159169 uc003dwi.2 AF367469 NM_032600 CCDS2949 Q8NEL0 15257753 MGI:1916589 RGD:1559779 HGNC:30703 "ENST00000261058.3|NM_032600.3" +HGNC:56107 CCDC54-AS1 CCDC54 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.12 03q13.12 Antisense RNAs 1987 2022-01-06 2022-01-06 101929579 ENSG00000239828 NR_126332 +HGNC:27564 CCDC57 coiled-coil domain containing 57 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ00130|FLJ23754" 2006-01-12 2022-01-11 284001 ENSG00000176155 OTTHUMG00000140396 uc060lwj.1 BC040264 NM_198082 CCDS11803 Q2TAC2 32402286 MGI:1918526 RGD:1590047 HGNC:27564 +HGNC:25005 CCDC59 coiled-coil domain containing 59 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "HSPC128|TAP26|BR22" 2006-01-23 2020-04-01 29080 ENSG00000133773 OTTHUMG00000170251 uc001szp.5 AF213377 NM_014167 CCDS9023 Q9P031 "16630564|12882447" MGI:1289302 RGD:1311912 619280 HGNC:25005 "ENST00000256151.8|NM_014167.5" +HGNC:28610 CCDC60 coiled-coil domain containing 60 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 MGC39827 2006-01-23 2015-08-24 160777 ENSG00000183273 OTTHUMG00000168943 uc001txe.3 BC040553 NM_178499 CCDS9190 Q8IWA6 12477932 MGI:2141043 RGD:1564283 HGNC:28610 "ENST00000327554.3|NM_178499.5" +HGNC:33629 CCDC61 coiled-coil domain containing 61 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 VFL3 variable flagellar number 3 homolog (C. reinhardtii) 2007-10-18 2021-05-17 729440 ENSG00000104983 OTTHUMG00000182488 uc031rlj.2 NM_001080402 CCDS46120 Q9Y6R9 32375023 MGI:2685005 RGD:1307390 HGNC:33629 "ENST00000595358.5|NM_001267723.2" +HGNC:30723 CCDC62 coiled-coil domain containing 62 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "TSP-NY|FLJ40344|CT109|ERAP75" cancer/testis antigen 109 2006-01-23 2015-08-24 84660 ENSG00000130783 OTTHUMG00000168764 uc001udc.4 NM_032573 CCDS9238 Q6P9F0 "18563714|19126643" MGI:2684996 RGD:1586391 613481 HGNC:30723 "ENST00000253079.11|NM_201435.5" +HGNC:26669 CCDC63 coiled-coil domain containing 63 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "ODA5|FLJ35843" outer row dynein assembly 5 homolog (Chlamydomonas) 2006-01-24 2021-11-19 160762 ENSG00000173093 OTTHUMG00000169534 uc001trv.2 AK093162 NM_152591 "CCDS73528|CCDS9151|CCDS66470" Q8NA47 MGI:3607777 RGD:1562334 617969 HGNC:26669 "ENST00000308208.10|NM_152591.3" +HGNC:29937 CCDC65 coiled-coil domain containing 65 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "NYD-SP28|FLJ35732|FAP250|CFAP250|CILD27|DRC2" "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2006-01-26 2015-10-13 85478 ENSG00000139537 OTTHUMG00000170401 uc001rso.4 NM_033124 CCDS8772 Q8IXS2 "17089017|21700706" MGI:2146001 RGD:1595842 611088 367625 HGNC:29937 "ENST00000320516.5|NM_033124.5" HGNC:29937 +HGNC:27709 CCDC66 coiled-coil domain containing 66 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 DKFZp686C0433 2006-02-01 2014-11-19 285331 ENSG00000180376 OTTHUMG00000155748 uc003dhu.4 AL832692 NM_001012506 "CCDS46852|CCDS33770" A2RUB6 14702039 MGI:2443639 RGD:1560873 619287 HGNC:27709 "ENST00000394672.8|NM_001141947.3" +HGNC:24350 CCDC68 coiled-coil domain containing 68 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 SE57-1 cutaneous T-cell lymphoma associated antigen 2006-02-06 2016-10-05 80323 ENSG00000166510 OTTHUMG00000132708 uc002lft.3 NM_025214 CCDS11959 Q9H2F9 "11149944|15142679" MGI:3612676 RGD:1561424 616909 HGNC:24350 "ENST00000591504.6|NM_025214.3" +HGNC:24487 CCDC69 coiled-coil domain containing 69 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "FLJ13705|DKFZP434C171" 2006-02-07 2019-02-18 26112 ENSG00000198624 OTTHUMG00000130127 uc003ltq.4 NM_015621 CCDS4312 A6NI79 20962590 MGI:1196234 RGD:1562251 619288 HGNC:24487 "ENST00000355417.7|NM_015621.3" +HGNC:25303 CCDC70 coiled-coil domain containing 70 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "DKFZP434K1172|FLJ25853" 2006-02-07 2014-11-19 83446 ENSG00000123171 OTTHUMG00000016950 uc001vfu.5 NM_031290 CCDS9431 Q6NSX1 11230166 MGI:1915179 RGD:1559811 HGNC:25303 "ENST00000242819.7|NM_031290.4" +HGNC:25760 CCDC71 coiled-coil domain containing 71 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ12800 2006-02-09 2022-01-11 64925 ENSG00000177352 OTTHUMG00000156815 uc003cwg.5 AK022862 NM_022903 CCDS2790 Q8IV32 34780483 MGI:1919704 RGD:1566341 HGNC:25760 "ENST00000321895.7|NM_022903.4" +HGNC:26685 CCDC71L coiled-coil domain containing 71 like protein-coding gene gene with protein product Approved 7q22.3 07q22.3 FLJ36031 C7orf74 chromosome 7 open reading frame 74 2011-08-04 2011-12-12 2017-02-21 2017-02-21 168455 ENSG00000253276 OTTHUMG00000164150 uc003vdt.4 NM_175884 CCDS55151 Q8N9Z2 12477932 MGI:1919373 RGD:1560812 HGNC:26685 "ENST00000523505.3|NM_175884.6" +HGNC:23261 CCDC73 coiled-coil domain containing 73 protein-coding gene gene with protein product Approved 11p13 11p13 NY-SAR-79 2006-02-11 2014-11-19 493860 ENSG00000186714 OTTHUMG00000166279 uc001mtv.5 AK128159 NM_001008391 CCDS41630 Q6ZRK6 MGI:3606488 RGD:1563448 612328 HGNC:23261 "ENST00000335185.10|NM_001008391.4" +HGNC:25197 CCDC74A coiled-coil domain containing 74A protein-coding gene gene with protein product Approved 2q21.1 02q21.1 FLJ40345 2006-02-13 2006-02-16 2019-10-25 90557 ENSG00000163040 OTTHUMG00000131667 uc002tta.5 NM_138770 "CCDS74578|CCDS2167|CCDS58732" Q96AQ1 31521166 MGI:1919565 RGD:1588214 HGNC:25197 "ENST00000409856.8|NM_001258306.3" +HGNC:25267 CCDC74B coiled-coil domain containing 74B protein-coding gene gene with protein product Approved 2q21.1 02q21.1 DKFZp434E2321 2006-02-13 2006-02-16 2019-10-25 91409 ENSG00000152076 OTTHUMG00000131629 uc002tqm.3 NM_207310 "CCDS2155|CCDS58726" Q96LY2 31521166 MGI:1919565 HGNC:25267 "ENST00000409943.8|NM_001258307.2" +HGNC:51917 CCDC74BP1 coiled-coil domain containing 74B pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 2015-10-06 2015-10-06 100996538 ENSG00000250261 OTTHUMG00000150880 PGOHUM00000297464 HGNC:51917 +HGNC:28203 CCDC77 coiled-coil domain containing 77 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 MGC13183 2006-02-16 2014-11-19 84318 ENSG00000120647 OTTHUMG00000129214 uc001qig.4 AK027638 NM_032358 "CCDS44781|CCDS8503" Q9BR77 12477932 MGI:1914450 RGD:1310710 HGNC:28203 "ENST00000239830.9|NM_032358.4" +HGNC:14153 CCDC78 coiled-coil domain containing 78 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ34512 C16orf25 2000-12-21 2006-02-20 2021-04-13 124093 ENSG00000162004 OTTHUMG00000121176 uc002cjg.3 BC042110 NM_173476 CCDS32353 A2IDD5 24075808 MGI:2685784 RGD:1560244 LRG_705|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_705.xml 614666 310451 HGNC:14153 "ENST00000345165.10|NM_001378030.1" HGNC:14153 +HGNC:30649 CCDC80 coiled-coil domain containing 80 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "URB|SSG1|DRO1|CL2|TCONS_00006930" steroid sensitive gene 1 LINC01279 long intergenic non-protein coding RNA 1279 2006-03-30 2019-12-04 151887 ENSG00000091986 OTTHUMG00000159265 uc032rxo.2 AY333429 NM_199511 CCDS2968 Q76M96 "15325258|18178152" MGI:1915146 RGD:69421 608298 HGNC:30649 "ENST00000206423.8|NM_199511.3" +HGNC:26281 CCDC81 coiled-coil domain containing 81 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "FLJ16339|FLJ23514" 2006-03-09 2014-12-03 60494 ENSG00000149201 OTTHUMG00000167213 uc001pbx.3 AK131331 NM_021827 "CCDS53691|CCDS8276" Q6ZN84 25074808 MGI:1918134 RGD:1306766 HGNC:26281 "ENST00000445632.7|NM_001156474.2" +HGNC:26282 CCDC82 coiled-coil domain containing 82 protein-coding gene gene with protein product Approved 11q21 11q21 FLJ23518 2006-03-09 2014-11-19 79780 ENSG00000149231 OTTHUMG00000167678 uc058gsk.1 AF245436 NM_024725 "CCDS86241|CCDS8307|CCDS86243" Q8N4S0 12477932 MGI:1913646 RGD:1359666 HGNC:26282 "ENST00000646818.2|NM_024725.4" +HGNC:28535 CCDC83 coiled-coil domain containing 83 protein-coding gene gene with protein product Approved 11q14.1-q14.2 11q14.1-q14.2 "MGC34732|FLJ42119|CT148|KP-CoT-23" 2006-03-10 2019-02-18 220047 ENSG00000150676 OTTHUMG00000166978 uc001pbg.3 AK124113 NM_173556 "CCDS66196|CCDS8271" Q8IWF9 22923163 MGI:1918255 RGD:1594161 HGNC:28535 "ENST00000342404.8|NM_001286159.2" +HGNC:29400 CCDC85A coiled-coil domain containing 85A protein-coding gene gene with protein product Approved 2p16.1 02p16.1 KIAA1912 2006-03-29 2015-08-24 114800 ENSG00000055813 OTTHUMG00000152033 uc002rzn.4 AB067499 NM_001080433 CCDS46290 Q96PX6 11572484 MGI:2445069 RGD:1311700 HGNC:29400 "ENST00000407595.3|NM_001080433.2" +HGNC:24926 CCDC85B coiled-coil domain containing 85B protein-coding gene gene with protein product Approved 11q13.1 11q13.1 DIPA hepatitis delta antigen interacting protein A 2006-03-29 2020-01-06 11007 ENSG00000175602 OTTHUMG00000166722 uc001ogf.4 BC008796 NM_006848 CCDS8120 Q15834 "8810253|15644333|17873903" MGI:2147607 RGD:1565319 605360 HGNC:24926 "ENST00000312579.4|NM_006848.3" +HGNC:35459 CCDC85C coiled-coil domain containing 85C protein-coding gene gene with protein product Approved 14q32.2 14q32.2 2009-02-18 2016-10-05 317762 ENSG00000205476 OTTHUMG00000171506 uc010avr.4 NM_001144995 CCDS45161 A6NKD9 MGI:3644008 RGD:1589818 HGNC:35459 "ENST00000380243.9|NM_001144995.2" +HGNC:28359 CCDC86 coiled-coil domain containing 86 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "MGC2574|cyclon" cytokine-induced protein with coiled-coil domain 2006-03-15 2021-03-15 79080 ENSG00000110104 OTTHUMG00000167706 uc001nqa.3 AK025974 NM_024098 CCDS7993 Q9H6F5 23528659 MGI:1277220 RGD:1359280 611293 HGNC:28359 "ENST00000227520.10|NM_024098.4" +HGNC:25579 CCDC87 coiled-coil domain containing 87 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ10786 2006-03-15 2019-02-18 55231 ENSG00000182791 OTTHUMG00000167237 uc001oiq.5 BC034469 NM_018219 CCDS8145 Q9NVE4 29733332 MGI:3026882 RGD:1596153 HGNC:25579 "ENST00000333861.5|NM_018219.3" +HGNC:25523 CCDC88A coiled-coil domain containing 88A protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "FLJ10392|APE|GIV|HkRP1|GRDN" "Galpha-interacting vesicle-associated protein|Akt-phosphorylation enhancer|girdin|girders of actin filaments" KIAA1212 KIAA1212 2004-01-13 2007-05-31 2007-05-31 2016-10-05 55704 ENSG00000115355 OTTHUMG00000151915 uc010yoz.2 "AB033038|AF112218" NM_017571 "CCDS33203|CCDS58710|CCDS46288" Q3V6T2 "15749703|15753085" MGI:1925177 RGD:1306694 609736 459019 HGNC:25523 "ENST00000436346.7|NM_001365480.1" HGNC:25523 +HGNC:26757 CCDC88B coiled-coil domain containing 88B protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FLJ37970|BRLZ|HkRP3|FLJ00354|GIPIE" "brain leucine zipper protein|GRP78-interacting protein induced by ER stress" CCDC88 coiled-coil domain containing 88 2006-03-16 2007-05-31 2007-05-31 2014-11-18 283234 ENSG00000168071 OTTHUMG00000045419 uc001nzy.4 AK090436 NM_032251 CCDS8072 A6NC98 "15882442|21289099" MGI:1925567 RGD:1311475 611205 HGNC:26757 "ENST00000356786.10|NM_032251.6" +HGNC:19967 CCDC88C coiled-coil domain containing 88C protein-coding gene gene with protein product Approved 14q32.11-q32.12 14q32.11-q32.12 "DAPLE|HkRP2|SCA40" "Dvl-associating protein with a high frequency of leucine residues|spinocerebellar ataxia 40" KIAA1509 KIAA1509 2003-11-21 2007-05-31 2007-05-31 2018-11-15 440193 ENSG00000015133 OTTHUMG00000171099 uc010aty.4 NM_001080414 CCDS45151 Q9P219 "17185515|25062847" MGI:1915589 RGD:1307429 611204 320663 HGNC:19967 "ENST00000389857.11|NM_001080414.4" HGNC:19967 +HGNC:55438 CCDC88C-DT CCDC88C divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.12 14q32.12 Divergent transcripts 1990 2021-01-14 2021-01-14 105370625 ENSG00000258798 XR_007064304 +HGNC:26762 CCDC89 coiled-coil domain containing 89 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 FLJ38159 2006-03-16 2015-09-11 220388 ENSG00000179071 OTTHUMG00000166976 uc001pau.2 AK095478 NM_152723 CCDS8270 Q8N998 12477932 MGI:1917304 RGD:1305335 HGNC:26762 "ENST00000316398.5|NM_152723.3" +HGNC:28108 CCDC90B coiled-coil domain containing 90B protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "MDS025|MDS011" 2006-10-23 2020-10-30 60492 ENSG00000137500 OTTHUMG00000167078 uc001pae.5 BC048795 NM_021825 "CCDS66190|CCDS8266" Q9GZT6 "11230166|30612859" MGI:1913615 RGD:1308637 HGNC:28108 "ENST00000529689.6|NM_021825.5" +HGNC:55505 CCDC90B-AS1 CCDC90B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Antisense RNAs 1987 2021-03-17 2021-03-17 120883614 ENSG00000255234 XR_007062814 +HGNC:24855 CCDC91 coiled-coil domain containing 91 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "p56|FLJ11088|DKFZp779L1558" GGA binding partner 2006-03-17 2020-01-06 55297 ENSG00000123106 OTTHUMG00000169141 uc001riq.4 AK093152 NM_018318 "CCDS8716|CCDS81675" Q7Z6B0 12808037 MGI:1914265 RGD:1359502 617366 HGNC:24855 "ENST00000536442.6|NM_018318.5" HGNC:24855 +HGNC:29563 CCDC92 coiled-coil domain containing 92 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ22471 limkain beta 2 2006-03-17 2015-08-24 80212 ENSG00000119242 OTTHUMG00000168725 uc058uvp.1 AK026124 NM_025140 "CCDS9256|CCDS76619" Q53HC0 12477932 MGI:106485 RGD:1601131 HGNC:29563 "ENST00000238156.8|NM_025140.3" +HGNC:52279 CCDC92B coiled-coil domain containing 92B other unknown Approved 17p13.3 17p13.3 MicroRNA protein coding host genes 1691 2015-12-14 2019-06-20 101928991 ENSG00000261963 OTTHUMG00000178197 NM_001355573 MGI:3588240 RGD:1562276 HGNC:52279 "ENST00000614400.2|NM_001355573.2" +HGNC:25611 CCDC93 coiled-coil domain containing 93 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 FLJ10996 CCC complex 1557 2006-03-24 2016-01-07 54520 ENSG00000125633 OTTHUMG00000058517 uc002tlj.4 BC028609 NM_019044 CCDS2121 Q567U6 25355947 MGI:1918079 RGD:1560504 HGNC:25611 "ENST00000376300.7|NM_019044.5" +HGNC:26900 CCDC96 coiled-coil domain containing 96 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 FLJ90575 2006-03-24 2021-04-30 257236 ENSG00000173013 OTTHUMG00000125511 uc003gjv.4 AK075056 NM_153376 CCDS3395 Q2M329 "25074808|33661892" MGI:1913967 RGD:1305153 619347 HGNC:26900 "ENST00000310085.6|NM_153376.3" +HGNC:28289 CCDC97 coiled-coil domain containing 97 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ40267|MGC20255" 2006-03-31 2020-01-06 90324 ENSG00000142039 OTTHUMG00000182722 uc002oqg.3 BC011577 NM_052848 CCDS12578 Q96F63 12477932 MGI:1196455 RGD:1309393 HGNC:28289 "ENST00000269967.4|NM_052848.3" +HGNC:28097 CCDC102A coiled-coil domain containing 102A protein-coding gene gene with protein product Approved 16q21 16q21 MGC10992 2006-04-10 2016-10-05 92922 ENSG00000135736 OTTHUMG00000133472 uc002elw.4 BC008285 NM_033212 CCDS10784 Q96A19 12477932 MGI:2686927 RGD:1308684 HGNC:28097 "ENST00000258214.3|NM_033212.4" +HGNC:26295 CCDC102B coiled-coil domain containing 102B protein-coding gene gene with protein product Approved 18q22.1 18q22.1 "FLJ23594|HsT1731|AN" "C18orf14|ACY1L" "chromosome 18 open reading frame 14|aminoacylase 1-like" 2004-04-29 2006-04-10 2006-04-10 2015-08-26 79839 ENSG00000150636 OTTHUMG00000132808 uc060pyl.1 AK027247 NM_024781 CCDS11996 Q68D86 14702039 HGNC:26295 "ENST00000360242.9|NM_024781.3" +HGNC:32700 CCDC103 coiled-coil domain containing 103 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "FLJ13094|FLJ34211|PR46b|CILD17" Axonemal dynein assembly factors 1627 2006-04-25 2022-02-28 388389 ENSG00000167131 OTTHUMG00000154264 uc060gdg.1 AK023156 NM_213607 "CCDS58554|CCDS11490" Q8IW40 22581229 MGI:1920543 RGD:1562370 614677 303726 HGNC:32700 "ENST00000417826.3|NM_213607.3" HGNC:32700 +HGNC:26866 CCDC105 coiled-coil domain containing 105 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ40365 2006-05-08 2020-01-06 126402 ENSG00000160994 OTTHUMG00000183352 uc002nae.3 AK097684 NM_173482 CCDS12322 Q8IYK2 12477932 MGI:1918226 RGD:1594374 HGNC:26866 "ENST00000292574.4|NM_173482.3" +HGNC:30181 CCDC106 coiled-coil domain containing 106 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 HSU79303 2006-05-09 2014-11-19 29903 ENSG00000173581 OTTHUMG00000180907 uc002qlr.4 AF054984 NM_013301 CCDS33118 Q9BWC9 "8619474|9110174" MGI:2385900 RGD:1566222 613478 HGNC:30181 "ENST00000586790.6|NM_001370470.1" +HGNC:28465 CCDC107 coiled-coil domain containing 107 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 MGC31967 2006-05-12 2016-10-05 203260 ENSG00000159884 OTTHUMG00000019868 uc011lox.3 AK075523 NM_174923 "CCDS56574|CCDS6583|CCDS56573|CCDS56575" Q8WV48 12477932 MGI:1913423 RGD:1560252 HGNC:28465 "ENST00000426546.7|NM_174923.3" +HGNC:28504 CCDC110 coiled-coil domain containing 110 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "KM-HN-1|MGC33607|CT52" cancer/testis antigen 52 2006-10-23 2014-11-19 256309 ENSG00000168491 OTTHUMG00000160415 uc003ixu.5 AB080722 NM_152775 "CCDS47170|CCDS3843" Q8TBZ0 18160854 MGI:2685018 RGD:1564538 609488 HGNC:28504 "ENST00000307588.8|NM_152775.4" +HGNC:28599 CCDC112 coiled-coil domain containing 112 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 MGC39633 2006-05-23 2022-01-11 153733 ENSG00000164221 OTTHUMG00000128894 uc063gda.1 BC031242 NM_152549 "CCDS4117|CCDS34213" Q8NEF3 30174296 MGI:1918800 RGD:1561942 HGNC:28599 "ENST00000379611.10|NM_001040440.3" +HGNC:25002 CCDC113 coiled-coil domain containing 113 protein-coding gene gene with protein product Approved 16q21 16q21 "HSPC065|DKFZp434N1418" 2006-06-13 2021-04-30 29070 ENSG00000103021 OTTHUMG00000133489 uc002ene.4 AL136785 NM_014157 "CCDS45497|CCDS10795" Q9H0I3 "25074808|33661892" MGI:3606076 RGD:1565763 616070 HGNC:25002 "ENST00000219299.8|NM_014157.4" +HGNC:28178 CCDC115 coiled-coil domain containing 115 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "MGC12981|FLJ30131|ccp1" 2006-07-03 2016-07-25 84317 ENSG00000136710 OTTHUMG00000131631 uc002tqy.3 AK054693 NM_032357 "CCDS2159|CCDS82512" Q96NT0 "21118521|26833332" MGI:1916918 RGD:1304653 613734 470040 HGNC:28178 "ENST00000259229.7|NM_032357.4" HGNC:28178 +HGNC:26688 CCDC116 coiled-coil domain containing 116 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 FLJ36046 2006-06-27 2014-12-03 164592 ENSG00000161180 OTTHUMG00000150821 uc002zve.4 BC033499 NM_152612 "CCDS13791|CCDS87008" Q8IYX3 25074808 MGI:1924122 RGD:1310080 HGNC:26688 "ENST00000292779.4|NM_152612.3" +HGNC:26599 CCDC117 coiled-coil domain containing 117 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 FLJ33814 2006-06-27 2019-02-18 150275 ENSG00000159873 OTTHUMG00000151091 uc003aeb.5 AK091133 NM_173510 "CCDS13846|CCDS63436|CCDS63435" Q8IWD4 30742009 MGI:2144383 RGD:1561762 HGNC:26599 "ENST00000249064.9|NM_173510.4" +HGNC:28910 CCDC120 coiled-coil domain containing 120 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 JM11 2006-07-11 2020-04-02 90060 ENSG00000147144 OTTHUMG00000021509 uc064zdh.1 BC008769 NM_033626 "CCDS14316|CCDS55414|CCDS55413" Q96HB5 25326380 MGI:1859619 RGD:1561596 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CCDC120 300947 HGNC:28910 "ENST00000603986.6|NM_001163321.4" +HGNC:25833 CCDC121 coiled-coil domain containing 121 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ43364|FLJ13646" 2006-07-26 2016-10-05 79635 ENSG00000176714 OTTHUMG00000128427 uc002rle.4 AK125354 NM_024584 "CCDS1759|CCDS46247" Q6ZUS5 MGI:1914906 RGD:1566190 HGNC:25833 "ENST00000324364.4|NM_024584.5" +HGNC:55052 CCDC121P1 CCDC121 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 643888 ENSG00000271400 NG_009150 +HGNC:26478 CCDC122 coiled-coil domain containing 122 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 FLJ31846 2006-08-08 2014-11-19 160857 ENSG00000151773 OTTHUMG00000017413 uc010acf.4 AK056408 NM_144974 CCDS9390 Q5T0U0 MGI:1918358 RGD:2321506 613408 HGNC:26478 "ENST00000444614.8|NM_144974.5" +HGNC:25171 CCDC124 coiled-coil domain containing 124 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "Lso2|oxs1" 2006-08-08 2021-03-15 115098 ENSG00000007080 OTTHUMG00000183405 uc010xpz.3 BC013949 NM_138442 CCDS12369 Q96CT7 "23894443|32687489" MGI:1916403 RGD:1310931 HGNC:25171 "ENST00000445755.7|NM_001136203.2" +HGNC:28924 CCDC125 coiled-coil domain containing 125 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 KENAE 2006-08-09 2014-11-19 202243 ENSG00000183323 OTTHUMG00000131259 uc003jvv.2 AB024691 NM_176816 "CCDS75255|CCDS4000" Q86Z20 MGI:1923291 RGD:1561673 613781 HGNC:28924 "ENST00000396496.7|NM_176816.5" +HGNC:22398 CCDC126 coiled-coil domain containing 126 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 FLJ23031 2006-08-15 2022-01-11 90693 ENSG00000169193 OTTHUMG00000128461 uc003swl.3 BC012427 NM_138771 CCDS5384 Q96EE4 31934309 MGI:1889376 RGD:1561171 HGNC:22398 "ENST00000307471.8|NM_138771.4" +HGNC:30520 CCDC127 coiled-coil domain containing 127 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 FLJ25701 2006-08-18 2019-02-18 133957 ENSG00000164366 OTTHUMG00000161586 uc003jam.2 AK098567 NM_145265 CCDS3852 Q96BQ5 26873636 MGI:1914683 RGD:735106 HGNC:30520 "ENST00000296824.4|NM_145265.3" +HGNC:26185 CCDC134 coiled-coil domain containing 134 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 FLJ22349 2006-10-17 2019-01-10 79879 ENSG00000100147 OTTHUMG00000151262 uc003bbh.2 AL021453 NM_024821 "CCDS77680|CCDS33654" Q9H6E4 "18087676|29115376" MGI:1923707 RGD:1559657 618788 HGNC:26185 "ENST00000255784.6|NM_024821.5" HGNC:26185 +HGNC:22225 CCDC136 coiled-coil domain containing 136 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "KIAA1793|NAG6|DKFZP434G156" 2007-05-02 2016-10-05 64753 ENSG00000128596 OTTHUMG00000158310 uc003vnv.3 NM_022742 "CCDS47704|CCDS56510" Q96JN2 15112360 MGI:1918128 RGD:1564459 611902 HGNC:22225 "ENST00000297788.9|NM_022742.5" +HGNC:33451 CCDC137 coiled-coil domain containing 137 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 MGC16597 2007-05-02 2016-01-14 339230 ENSG00000185298 OTTHUMG00000178064 uc002kbc.5 BC009369 NM_199287 CCDS42400 Q6PK04 MGI:1914541 RGD:1591129 614271 HGNC:33451 "ENST00000329214.13|NM_199287.3" +HGNC:33459 CCDC137P coiled-coil domain containing 137 pseudogene pseudogene pseudogene Approved 3p13 03p13 2007-07-19 2019-07-30 642802 ENSG00000242609 OTTHUMG00000158786 NG_009746 PGOHUM00000299466 HGNC:33459 +HGNC:26531 CCDC138 coiled-coil domain containing 138 protein-coding gene gene with protein product Approved 2q13 02q13 FLJ32745 2007-05-02 2019-02-18 165055 ENSG00000163006 OTTHUMG00000130980 uc002ten.2 AK057307 NM_144978 "CCDS77447|CCDS2080" Q96M89 28596423 MGI:1923388 RGD:1566050 HGNC:26531 "ENST00000295124.9|NM_144978.3" +HGNC:26514 CCDC140 CCDC140 long non-coding RNA non-coding RNA RNA, long non-coding Approved 2q36.1 02q36.1 FLJ32447 "coiled-coil domain containing 140|CCDC140 lncRNA" Long non-coding RNAs with non-systematic symbols 1992 2007-07-10 2019-12-18 2019-12-18 151278 ENSG00000163081 OTTHUMG00000133154 uc002vnb.1 AK057009 NR_161172 Q96MF4 HGNC:26514 +HGNC:26821 CCDC141 coiled-coil domain containing 141 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "FLJ39502|CAMDI" coiled-coil protein associated with myosin II and DISC1 Immunoglobulin like domain containing 594 2007-07-10 2015-08-24 285025 ENSG00000163492 OTTHUMG00000132578 uc002une.2 AK096821 NM_173648 CCDS82538 Q6ZP82 20956536 MGI:1919735 RGD:1593250 616031 HGNC:26821 "ENST00000443758.7|NM_173648.4" HGNC:26821 +HGNC:25889 CCDC142 coiled-coil domain containing 142 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 FLJ14397 2007-07-17 2014-11-19 84865 ENSG00000135637 OTTHUMG00000129962 uc002slq.4 AK075543 NM_032779 CCDS1945 Q17RM4 MGI:3045292 RGD:1561779 HGNC:25889 "ENST00000393965.8|NM_001365575.2" +HGNC:29072 CCDC144A coiled-coil domain containing 144A protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "KIAA0565|FLJ43983" 2007-08-06 2015-08-26 9720 ENSG00000170160 OTTHUMG00000059178 uc002gqk.2 BC133019 NM_001382000 CCDS45621 A2RUR9 "9628581|11997339" 619413 HGNC:29072 "ENST00000399273.5|NM_001382000.1" +HGNC:26704 CCDC144B coiled-coil domain containing 144B (pseudogene) pseudogene pseudogene Approved 17p11.2 17p11.2 FLJ36492 coiled-coil domain containing 144B 2007-08-07 2011-09-02 2019-10-30 284047 ENSG00000154874 OTTHUMG00000059531 AK093811 NR_036647 Q3MJ40 11997339 HGNC:26704 +HGNC:29073 CCDC144CP coiled-coil domain containing 144C, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 CCDC144C coiled-coil domain containing 144C 2007-08-06 2013-03-14 2013-03-14 2013-03-14 348254 ENSG00000154898 OTTHUMG00000059513 NR_023380 Q8IYA2 11997339 HGNC:29073 +HGNC:33735 CCDC144NL CCDC144A N-terminal pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 MGC87631 coiled-coil domain containing 144 family, N-terminal like 2009-01-15 2019-10-30 2021-10-07 339184 ENSG00000205212 OTTHUMG00000132271 uc002gyf.3 NR_164128 Q6NUI1 HGNC:33735 +HGNC:51340 CCDC144NL-AS1 CCDC144NL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Antisense RNAs 1987 2014-10-10 2019-09-18 440416 ENSG00000233098 OTTHUMG00000178937 "AK057473|BC041488" NR_104185 "28978132|31358062" CCDC144NL-AS1 HGNC:51340 +HGNC:29296 CCDC146 coiled-coil domain containing 146 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "KIAA1505|MBO2" 2007-12-06 2020-11-17 57639 ENSG00000135205 OTTHUMG00000162595 uc003uga.3 BC029458 NM_020879 CCDS34671 Q8IYE0 "10819331|25074808" MGI:1922422 RGD:1559535 619829 HGNC:29296 "ENST00000285871.5|NM_020879.3" HGNC:29296 +HGNC:25191 CCDC148 coiled-coil domain containing 148 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 MGC125588 2007-12-07 2014-11-19 130940 ENSG00000153237 OTTHUMG00000153973 uc002tzq.4 NM_138803 "CCDS77476|CCDS33304" Q8NFR7 MGI:3039583 RGD:1561169 HGNC:25191 "ENST00000283233.10|NM_138803.4" +HGNC:44134 CCDC148-AS1 CCDC148 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.1 02q24.1 CCDC148 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 554201 ENSG00000227480 OTTHUMG00000153964 uc021vro.1 BC021739 NR_038850 CCDC148-AS1 HGNC:44134 +HGNC:25405 CCDC149 coiled-coil domain containing 149 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 DKFZp761B107 2008-03-03 2016-04-25 91050 ENSG00000181982 OTTHUMG00000160308 uc011bxr.3 NM_173463 CCDS33967 Q6ZUS6 17457313 MGI:2685293 RGD:1582968 HGNC:25405 "ENST00000635206.2|NM_001330643.2" +HGNC:26834 CCDC150 coiled-coil domain containing 150 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ39660 2008-04-10 2015-09-11 284992 ENSG00000144395 OTTHUMG00000154475 uc002utp.1 NM_001080539 CCDS46478 Q8NCX0 MGI:1925266 RGD:1304775 HGNC:26834 "ENST00000389175.9|NM_001080539.2" +HGNC:50280 CCDC150P1 coiled-coil domain containing 150 pseudogene 1 pseudogene pseudogene Approved 12q24.31 12q24.31 2014-03-26 2020-01-21 100420678 ENSG00000256304 OTTHUMG00000168923 NG_024048 PGOHUM00000239595 HGNC:50280 +HGNC:34438 CCDC152 coiled-coil domain containing 152 protein-coding gene gene with protein product Approved 5p12 05p12 LOC100129792 2008-07-14 2016-11-11 100129792 ENSG00000198865 OTTHUMG00000162141 uc003jmx.4 NM_001134848 CCDS47203 Q4G0S7 MGI:3641617 RGD:1561503 HGNC:34438 "ENST00000361970.10|NM_001134848.2" +HGNC:27446 CCDC153 coiled-coil domain containing 153 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 LOC283152 2008-07-18 2014-11-19 283152 ENSG00000248712 OTTHUMG00000156903 uc058ihz.1 NM_001033658 CCDS44753 Q494R4 12477932 MGI:2448587 RGD:1305351 HGNC:27446 "ENST00000503566.7|NM_001145018.3" +HGNC:34454 CCDC154 coiled-coil domain containing 154 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 LOC645811 C16orf29 chromosome 16 open reading frame 29 2008-08-07 2014-11-19 645811 ENSG00000197599 OTTHUMG00000154097 uc059oxj.1 NM_001143980 A6NI56 MGI:2685163 RGD:1559998 618740 HGNC:34454 "ENST00000389176.4|NM_001143980.3" +HGNC:33854 CCDC157 coiled-coil domain containing 157 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 2009-03-05 2022-01-11 550631 ENSG00000187860 OTTHUMG00000151007 uc011akv.3 BC018040 NM_001017437 "CCDS33632|CCDS82707" Q569K6 "30741974|31488582" MGI:3041210 RGD:1584653 619391 HGNC:33854 "ENST00000338306.8|NM_001017437.5" +HGNC:26374 CCDC158 coiled-coil domain containing 158 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 FLJ25770 2009-04-06 2015-09-11 339965 ENSG00000163749 OTTHUMG00000160916 uc003hkb.5 BC035224 NM_001042784 CCDS43242 Q5M9N0 12477932 MGI:2444555 RGD:1308523 HGNC:26374 "ENST00000682701.1|NM_001394954.1" +HGNC:26996 CCDC159 coiled-coil domain containing 159 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2009-09-28 2010-02-17 126075 ENSG00000183401 OTTHUMG00000182022 uc010xlt.3 BC038439 NM_001080503 CCDS45976 P0C7I6 MGI:1914369 RGD:1308031 HGNC:26996 "ENST00000458408.6|NM_001080503.3" +HGNC:37286 CCDC160 coiled-coil domain containing 160 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 2009-09-28 2010-02-17 347475 ENSG00000203952 OTTHUMG00000164183 uc065bea.1 BC017958 NM_001101357 CCDS48171 A6NGH7 MGI:3588225 RGD:1597791 HGNC:37286 +HGNC:21565 CCDC162P coiled-coil domain containing 162, pseudogene pseudogene pseudogene Approved 6q21 06q21 "bA425D10.7|bA425D10.3|bA487F23.3" "C6orf184|C6orf185|CCDC162|C6orf183" "chromosome 6 open reading frame 184|chromosome 6 open reading frame 185|chromosome 6 open reading frame 183" 2003-11-26 2011-04-28 2011-04-28 2017-12-04 221262 ENSG00000203799 OTTHUMG00000015342 NR_028595 MGI:1923223 RGD:1561147 HGNC:21565 +HGNC:27003 CCDC163 coiled-coil domain containing 163 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 LOC126661 "C1orf231|CCDC163P" "chromosome 1 open reading frame 231|coiled-coil domain containing 163, pseudogene" 2009-09-25 2016-07-20 2016-07-20 2018-01-12 126661 ENSG00000280670 OTTHUMG00000007741 uc001cnw.4 BC047421 NM_001102601 CCDS85969 A0A0D9SF12 18672041 MGI:1915644 RGD:1564486 HGNC:27003 "ENST00000629482.3|NM_001102601.3" +HGNC:41910 CCDC166 coiled-coil domain containing 166 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 2011-06-20 2011-06-20 100130274 ENSG00000255181 OTTHUMG00000165148 uc011lkr.2 NM_001162914 CCDS55280 P0CW27 MGI:1925902 RGD:1588167 HGNC:41910 "ENST00000542437.1|NM_001162914.1" +HGNC:21239 CCDC167 coiled-coil domain containing 167 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 dJ153P14.2 C6orf129 chromosome 6 open reading frame 129 2003-05-29 2011-07-04 2011-07-04 2015-08-24 154467 ENSG00000198937 OTTHUMG00000014625 uc003ont.4 NM_138493 CCDS34441 Q9P0B6 MGI:1915847 RGD:1588733 HGNC:21239 "ENST00000373408.4|NM_138493.3" +HGNC:26851 CCDC168 coiled-coil domain containing 168 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 FLJ40176 C13orf40 chromosome 13 open reading frame 40 2010-08-05 2011-08-09 2011-08-09 2020-04-20 643677 ENSG00000175820 OTTHUMG00000187287 uc001vpm.4 NM_001146197 CCDS73596 Q8NDH2 MGI:3647616 RGD:7680407 HGNC:26851 "ENST00000322527.4|NM_001146197.3" +HGNC:34361 CCDC169 coiled-coil domain containing 169 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "RP11-251J8.1|LOC728591" C13orf38 chromosome 13 open reading frame 38 2008-07-02 2011-08-09 2011-08-09 2011-08-09 728591 ENSG00000242715 OTTHUMG00000016731 uc010tem.3 NM_001144981 "CCDS45028|CCDS53863|CCDS45027|CCDS45029|CCDS55897" A6NNP5 MGI:2444356 RGD:1593170 HGNC:34361 "ENST00000239859.8|NM_001144981.3" +HGNC:38866 CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough other readthrough Approved 13q13.3 13q13.3 C13orf38-SOHLH2 C13orf38-SOHLH2 readthrough 2011-02-21 2011-08-09 2011-11-03 2014-11-19 100526761 ENSG00000250709 OTTHUMG00000162258 uc010tei.3 NM_001198910.1 CCDS55896 MGI:1921684 HGNC:38866 +HGNC:21177 CCDC170 coiled-coil domain containing 170 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "FLJ23305|bA282P11.1" C6orf97 chromosome 6 open reading frame 97 2003-05-22 2012-03-26 2012-03-26 2019-11-01 80129 ENSG00000120262 OTTHUMG00000015839 uc003qol.4 AK026958 NM_025059 CCDS43515 Q8IYT3 28687497 MGI:2685067 RGD:1310945 HGNC:21177 "ENST00000239374.8|NM_025059.4" +HGNC:29828 CCDC171 coiled-coil domain containing 171 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 "FLJ39267|FLJ46740|Em:AL513423.1|bA778P13.1|bA536D16.1" myosin tail domain containing protein C9orf93 chromosome 9 open reading frame 93 2004-03-01 2012-03-26 2012-03-26 2016-10-05 203238 ENSG00000164989 OTTHUMG00000019584 uc003zmd.4 AY422473 NM_173550 CCDS6481 Q6TFL3 14702039 MGI:1922152 RGD:1560884 HGNC:29828 "ENST00000380701.8|NM_173550.4" +HGNC:30524 CCDC172 coiled-coil domain containing 172 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 MGC35062 C10orf96 chromosome 10 open reading frame 96 2004-04-07 2012-05-31 2012-05-31 2019-02-18 374355 ENSG00000182645 OTTHUMG00000019098 uc001lck.3 BC044830 NM_198515 CCDS31291 P0C7W6 24394471 MGI:1922895 RGD:1359412 HGNC:30524 "ENST00000333254.4|NM_198515.3" +HGNC:28033 CCDC174 coiled-coil domain containing 174 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "FLJ33839|ctr1" C3orf19 chromosome 3 open reading frame 19 2005-01-10 2012-09-20 2012-09-20 2021-03-15 51244 ENSG00000154781 OTTHUMG00000129837 uc003byw.4 AF151046 NM_016474 CCDS2620 Q6PII3 11042152 MGI:2444652 RGD:1305225 616735 470042 HGNC:28033 "ENST00000383794.7|NM_016474.5" HGNC:28033 +HGNC:19847 CCDC175 coiled-coil domain containing 175 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 C14orf38 chromosome 14 open reading frame 38 2002-11-27 2012-09-24 2012-09-24 2020-04-20 729665 ENSG00000151838 OTTHUMG00000171096 uc021rtw.2 NM_001164399 CCDS53898 P0C221 MGI:1921186 RGD:1560894 HGNC:19847 "ENST00000537690.7|NM_001164399.2" +HGNC:23243 CCDC177 coiled-coil domain containing 177 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 PLPL myelin proteolipid protein-like protein C14orf162 chromosome 14 open reading frame 162 2003-10-29 2012-10-03 2012-10-03 2015-01-29 56936 ENSG00000267909 OTTHUMG00000187379 uc010aqy.5 AF284217 NM_001271507 CCDS59245 Q9NQR7 MGI:2686414 RGD:1561115 HGNC:23243 "ENST00000599174.3|NM_001271507.2" +HGNC:29588 CCDC178 coiled-coil domain containing 178 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 FLJ44050 C18orf34 chromosome 18 open reading frame 34 2004-06-02 2012-10-15 2012-10-15 2014-11-18 374864 ENSG00000166960 OTTHUMG00000132279 uc002kxo.3 AK126038 NM_198995 "CCDS77174|CCDS42424|CCDS11906" Q5BJE1 MGI:1918200 RGD:1308160 HGNC:29588 "ENST00000383096.8|NM_001105528.4" +HGNC:44653 CCDC179 coiled-coil domain containing 179 protein-coding gene gene with protein product Approved 11p14.3 11p14.3 2012-12-12 2015-08-26 100500938 ENSG00000255359 OTTHUMG00000166074 uc021qfb.3 NM_001195637 CCDS58127 H3BU77 MGI:1922779 RGD:1559980 HGNC:44653 "ENST00000532798.3|NM_001195637.2" +HGNC:29303 CCDC180 coiled-coil domain containing 180 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "DKFZp434I2420|BDAG1|FAP76|CFAP76" Behcet's Disease Associated Gene 1 "KIAA1529|C9orf174" "KIAA1529|chromosome 9 open reading frame 174" Cilia and flagella associated 1491 2004-01-05 2013-03-08 2013-03-08 2020-04-20 100499483 ENSG00000197816 OTTHUMG00000167001 uc004axg.3 AK123391 NM_020893 CCDS35077 Q9P1Z9 10819331 MGI:2685871 RGD:6498132 HGNC:29303 "ENST00000529487.3|NM_020893.6" +HGNC:28051 CCDC181 coiled-coil domain containing 181 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 FLJ25846 C1orf114 chromosome 1 open reading frame 114 2005-06-09 2013-03-14 2013-03-14 2016-10-05 57821 ENSG00000117477 OTTHUMG00000035448 uc009wvq.2 AL049687 NM_021179 "CCDS72979|CCDS1279" Q5TID7 MGI:1922145 RGD:1309708 HGNC:28051 "ENST00000367806.8|NM_001300969.2" +HGNC:49392 CCDC182 coiled-coil domain containing 182 protein-coding gene gene with protein product Approved 17q22 17q22 2013-11-05 2013-11-05 101927581 ENSG00000166329 OTTHUMG00000132063 NM_001282544 CCDS62263 A6NF36 MGI:1921547 RGD:1586338 HGNC:49392 "ENST00000299415.3|NM_001282544.2" +HGNC:28236 CCDC183 coiled-coil domain containing 183 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MGC15438|bA216L13.7" KIAA1984 KIAA1984 2004-02-19 2013-12-06 2013-12-06 2014-11-18 84960 ENSG00000213213 OTTHUMG00000159445 AB075864 NM_032874 CCDS43906 Q5T5S1 11853319 MGI:1924308 RGD:1560370 615955 HGNC:28236 "ENST00000338005.7|NM_001039374.5" +HGNC:44105 CCDC183-AS1 CCDC183 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 KIAA1984-AS1 "KIAA1984 antisense RNA 1 (non-protein coding)|KIAA1984 antisense RNA 1" Antisense RNAs 1987 2012-06-28 2013-12-06 2013-12-06 2013-12-06 100131193 ENSG00000228544 OTTHUMG00000020946 AK055547 NR_024580 CCDC183-AS1 HGNC:44105 +HGNC:33749 CCDC184 coiled-coil domain containing 184 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 LOC387856 C12orf68 chromosome 12 open reading frame 68 2008-07-25 2014-03-19 2014-03-19 2014-03-19 387856 ENSG00000177875 OTTHUMG00000169902 NM_001013635 CCDS31785 Q52MB2 MGI:2146066 RGD:1593153 HGNC:33749 "ENST00000316554.5|NM_001013635.4" +HGNC:26654 CCDC185 coiled-coil domain containing 185 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ35728 C1orf65 chromosome 1 open reading frame 65 2005-05-17 2014-04-11 2014-04-11 2016-10-05 164127 ENSG00000178395 OTTHUMG00000037987 AK093047 NM_152610 CCDS1537 Q8N715 12477932 MGI:3618292 RGD:1560145 HGNC:26654 "ENST00000366875.5|NM_152610.3" +HGNC:24349 CCDC186 coiled-coil domain containing 186 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ10188|FLJ35301|CCCP-1|golgin104" C10orf118 chromosome 10 open reading frame 118 MicroRNA protein coding host genes 1691 2004-04-20 2014-05-30 2014-05-30 2021-05-18 55088 ENSG00000165813 OTTHUMG00000019081 AL834368 NM_018017 "CCDS7587|CCDS81506" Q7Z3E2 "12783626|25453831|33807583" MGI:2445022 RGD:1307158 619249 HGNC:24349 "ENST00000369287.8|NM_018017.4" +HGNC:30942 CCDC187 coiled-coil domain containing 187 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC50722 2015-09-17 2015-09-17 399693 ENSG00000260220 OTTHUMG00000188591 NM_001291516 CCDS78462 A0A096LP49 25751143 MGI:3045295 RGD:1565512 HGNC:30942 "ENST00000638797.2|NM_001378188.1" +HGNC:51899 CCDC188 coiled-coil domain containing 188 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2015-09-17 2015-09-17 388849 ENSG00000234409 OTTHUMG00000150751 NM_001365892 H7C350 MGI:3647803 RGD:1563782 HGNC:51899 "ENST00000439765.4|NM_001365892.2" +HGNC:28736 CCDC190 coiled-coil domain containing 190 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 MGC48998 C1orf110 chromosome 1 open reading frame 110 2005-06-07 2015-10-06 2015-10-06 2015-10-06 339512 ENSG00000185860 OTTHUMG00000034421 BC040018 NM_178550 CCDS44269 Q86UF4 12477932 MGI:1925715 RGD:1560672 HGNC:28736 "ENST00000367912.7|NM_001394065.1" +HGNC:29272 CCDC191 coiled-coil domain containing 191 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 KIAA1407 KIAA1407 2005-01-10 2015-10-07 2015-10-07 2015-10-07 57577 ENSG00000163617 OTTHUMG00000159337 AF509494 NM_020817 CCDS2977 Q8NCU4 10718198 MGI:1922661 RGD:1566314 HGNC:29272 "ENST00000295878.8|NM_020817.2" +HGNC:49566 CCDC192 coiled-coil domain containing 192 protein-coding gene gene with protein product Approved 5q23.2-q23.3 05q23.2-q23.3 LINC01183 "long intergenic non-protein coding RNA 1183|coiled-coil domain containing" 2014-01-15 2015-12-18 2015-12-18 2018-02-13 728586 ENSG00000230561 OTTHUMG00000163284 AB072738 NM_001317938 CCDS83022 P0DO97 MGI:1922694 HGNC:49566 "ENST00000514853.5|NM_001317938.2" +HGNC:53438 CCDC194 coiled-coil domain containing 194 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 2017-04-07 2017-04-07 110806280 ENSG00000269720 OTTHUMG00000191663 NM_001395221 A0A1B0GVG4 MGI:3588239 HGNC:53438 +HGNC:53441 CCDC195 coiled-coil domain containing 195 protein-coding gene gene with protein product Approved 2q36.2 02q36.2 2017-04-13 2017-04-13 110806281 ENSG00000283428 OTTHUMG00000191764 NM_001395236 A0A1B0GUA6 +HGNC:20100 CCDC196 coiled-coil domain containing 196 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "C14orf53|NCRNA00238|LINC00238" "chromosome 14 open reading frame 53|non-protein coding RNA 238|long intergenic non-protein coding RNA 238" 2002-12-18 2017-05-18 2017-05-18 2017-08-11 440184 ENSG00000196553 OTTHUMG00000029779 uc059cnh.1 NM_001351576 CCDS86402 A0A1B0GTZ2 RGD:1562540 LINC00238 HGNC:20100 "ENST00000636229.1|NM_001351576.1" +HGNC:19860 CCDC197 coiled-coil domain containing 197 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "LINC00521|C14orf48" "long intergenic non-protein coding RNA 521|chromosome 14 open reading frame 48" 2002-11-27 2017-05-31 2017-05-31 2017-05-31 256369 ENSG00000175699 OTTHUMG00000156974 uc001ycg.2 BI463117 NM_001351596 CCDS86426 Q8NCU1 LINC00521 HGNC:19860 "ENST00000636493.2|NM_001351596.2" +HGNC:20189 CCDC198 coiled-coil domain containing 198 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 FLJ10650 C14orf105 chromosome 14 open reading frame 105 2002-12-20 2017-07-07 2017-07-07 2018-04-20 55195 ENSG00000100557 OTTHUMG00000140317 uc001xcy.4 AK001512 NM_018168 "CCDS61459|CCDS9730|CCDS61458" Q9NVL8 29526398 MGI:1914332 RGD:7568824 HGNC:20189 "ENST00000216445.8|NM_018168.4" +HGNC:43658 CCDC200 coiled-coil domain containing 200 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "TMEM106A-AS1|LINC00854" "TMEM106A antisense RNA 1 (non-protein coding)|TMEM106A antisense RNA 1|TMEM106A antisense RNA 1 (tail to tail)|long intergenic non-protein coding RNA 854" 2012-01-23 2018-06-14 2018-06-14 2019-03-06 100874261 ENSG00000236383 OTTHUMG00000132641 uc060fso.1 NM_001363254 A0A1B0GVQ3 22196729 MGI:3650266 LINC00854 HGNC:43658 "ENST00000636331.2|NM_001363254.2" +HGNC:54081 CCDC201 coiled-coil domain containing 201 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 2019-03-21 2019-03-21 114515518 ENSG00000283247 OTTHUMG00000191722 NM_001395235 A0A1B0GTI1 MGI:3650614 +HGNC:51693 CCEPR cervical carcinoma expressed PCNA regulatory lncRNA non-coding RNA RNA, long non-coding Approved 10q21.1 10q21.1 CCHE1 cervical carcinoma high-expressed lncRNA 1 Long non-coding RNAs with non-systematic symbols 1992 2015-08-27 2015-12-04 2015-12-04 105682749 NR_131782 25921283 HGNC:51693 +HGNC:28373 CCER1 coiled-coil glutamate rich protein 1 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 MGC26598 C12orf12 "chromosome 12 open reading frame 12|coiled-coil glutamate-rich protein 1" 2005-02-25 2012-05-30 2015-11-05 2015-11-05 196477 ENSG00000197651 OTTHUMG00000170070 uc001tbj.3 BC024183 NM_152638 CCDS9036 Q8TC90 17967063 MGI:1913966 RGD:1560042 HGNC:28373 "ENST00000358859.3|NM_152638.4" +HGNC:44662 CCER2 coiled-coil glutamate rich protein 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 coiled-coil glutamate-rich protein 2 2014-01-02 2015-11-05 2015-11-05 643669 ENSG00000262484 OTTHUMG00000177374 NM_001243212 CCDS58661 I3L3R5 MGI:3645242 RGD:6502457 617634 HGNC:44662 "ENST00000571838.2|NM_001243212.2" +HGNC:13930 CCHCR1 coiled-coil alpha-helical rod protein 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 HCR C6orf18 chromosome 6 open reading frame 18 2002-11-18 2005-02-16 2005-02-15 2016-10-05 54535 ENSG00000204536 OTTHUMG00000031112 uc003nsr.4 AF216493 NM_019052 "CCDS4695|CCDS43445|CCDS47397" Q8TD31 "10888604|10545595" MGI:2385321 RGD:1302992 605310 HGNC:13930 "ENST00000396268.8|NM_001105564.2" +HGNC:1568 CCIN calicin protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "KBTBD14|BTBD20" BTB domain containing 861 1998-03-25 2020-09-17 881 ENSG00000185972 OTTHUMG00000019901 uc003zzb.5 Z46967 NM_005893 CCDS6599 Q13939 7641791 MGI:3045316 RGD:1359369 603960 HGNC:1568 "ENST00000335119.4|NM_005893.3" +HGNC:1569 CCK cholecystokinin protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "prepro-cholecystokinin|cholecystokinin triacontatriapeptide" Neuropeptides 1902 2001-06-22 2020-09-17 885 ENSG00000187094 OTTHUMG00000131796 uc003cld.2 NM_000729 CCDS2696 P06307 3856870 MGI:88297 RGD:2288 118440 ligandId:3552 HGNC:1569 "ENST00000396169.7|NM_000729.6" +HGNC:1570 CCKAR cholecystokinin A receptor protein-coding gene gene with protein product Approved 4p15.2 04p15.2 Cholecystokinin receptors 224 1993-07-13 2020-09-17 886 ENSG00000163394 OTTHUMG00000128567 uc003gse.2 L19315 NM_000730 CCDS3438 P32238 MGI:99478 RGD:2289 118444 objectId:76 HGNC:1570 "ENST00000295589.4|NM_000730.3" +HGNC:1571 CCKBR cholecystokinin B receptor protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Cholecystokinin receptors 224 1993-07-13 2020-09-17 887 ENSG00000110148 OTTHUMG00000133380 uc001mcp.4 D13305 NM_176875 "CCDS86175|CCDS7761|CCDS81550" P32239 1280419 MGI:99479 RGD:2290 118445 objectId:77 HGNC:1571 "ENST00000334619.7|NM_176875.4" +HGNC:10609 CCL1 C-C motif chemokine ligand 1 protein-coding gene gene with protein product Approved 17q12 17q12 "I-309|TCA3|P500|SISe" "inflammatory cytokine I-309|T lymphocyte-secreted protein I-309" SCYA1 "small inducible cytokine A1 (I-309, homologous to mouse Tca-3)|chemokine (C-C motif) ligand 1" Chemokine ligands 483 1990-07-05 2002-08-23 2016-03-01 2016-10-05 6346 ENSG00000108702 OTTHUMG00000132888 uc002hid.3 M57506 NM_002981 CCDS11282 P22362 "2212659|10409433" MGI:98258 RGD:1586495 182281 ligandId:812 HGNC:10609 "ENST00000225842.4|NM_002981.2" +HGNC:10618 CCL2 C-C motif chemokine ligand 2 protein-coding gene gene with protein product Approved 17q12 17q12 "MCP1|MCP-1|MCAF|SMC-CF|GDCF-2|HC11|MGC9434" "monocyte chemotactic protein 1, homologous to mouse Sig-je|monocyte chemoattractant protein-1|monocyte chemotactic and activating factor|monocyte secretory protein JE|small inducible cytokine subfamily A (Cys-Cys), member 2" SCYA2 "small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)|chemokine (C-C motif) ligand 2" Chemokine ligands 483 1990-07-05 2002-08-23 2016-03-01 2016-10-05 6347 ENSG00000108691 OTTHUMG00000132887 uc002hhy.4 BC009716 NM_002982 CCDS11277 P13500 2004761 MGI:98259 RGD:3645 158105 470046 ligandId:771 HGNC:10618 "ENST00000225831.4|NM_002982.4" HGNC:10618 +HGNC:10627 CCL3 C-C motif chemokine ligand 3 protein-coding gene gene with protein product Approved 17q12 17q12 "G0S19-1|LD78ALPHA|MIP-1-alpha" SCYA3 "small inducible cytokine A3 (homologous to mouse Mip-1a)|chemokine (C-C motif) ligand 3" Chemokine ligands 483 1990-07-05 2002-08-23 2016-03-01 2016-03-01 6348 ENSG00000277632 OTTHUMG00000188413 uc032gca.3 M23178 NM_002983 CCDS11307 P10147 MGI:98260 RGD:3647 182283 ligandId:756 HGNC:10627 "ENST00000613922.2|NM_002983.3" +HGNC:55229 CCL3-AS1 CCL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q12 17q12 Antisense RNAs 1987 2020-09-16 2020-09-16 102724850 ENSG00000277089 +HGNC:10628 CCL3L1 C-C motif chemokine ligand 3 like 1 protein-coding gene gene with protein product Approved 17q12 alternate reference locus 17q12 alternate reference locus "G0S19-2|LD78BETA" "D17S1718|SCYA3L|SCYA3L1" "small inducible cytokine A3-like 1|chemokine (C-C motif) ligand 3-like 1" Chemokine ligands 483 1993-11-04 2002-08-23 2016-03-01 2018-05-03 6349 ENSG00000277796 OTTHUMG00000191291 uc032guk.3 X52149 NM_021006 P16619 "1972563|1296815" MGI:98260 601395 +HGNC:30554 CCL3L3 C-C motif chemokine ligand 3 like 3 protein-coding gene gene with protein product Approved 17q12 17q12 MGC12815 chemokine (C-C motif) ligand 3-like 3 Chemokine ligands 483 2005-04-28 2016-03-01 2019-01-10 414062 ENSG00000276085 OTTHUMG00000188419 uc002hlf.4 BC007783 NM_001001437 CCDS32626 P16619 20233400 MGI:98260 609468 HGNC:30554 "ENST00000619989.1|NM_001001437.4" +HGNC:10629 CCL3P1 C-C motif chemokine ligand 3 pseudogene 1 pseudogene pseudogene Approved 17q12 alternate reference locus 17q12 alternate reference locus LD78gamma "SCYA3L2|CCL3L2" "small inducible cytokine A3-like 2|chemokine (C-C motif) ligand 3-like 2|chemokine (C-C motif) ligand 3 pseudogene 1" 1995-07-11 2010-10-11 2016-03-01 2020-04-20 390788 D12592 NG_004113 1296815 609467 +HGNC:10630 CCL4 C-C motif chemokine ligand 4 protein-coding gene gene with protein product Approved 17q12 17q12 "MIP-1-beta|Act-2|AT744.1" "LAG1|SCYA4" "small inducible cytokine A4 (homologous to mouse Mip-1b)|chemokine (C-C motif) ligand 4" Chemokine ligands 483 1990-07-05 2002-08-23 2016-03-01 2016-03-01 6351 ENSG00000275302 OTTHUMG00000188414 uc002hkw.3 M23502 NM_002984 CCDS11308 P13236 1972563 MGI:98261 RGD:620441 182284 ligandId:757 HGNC:10630 "ENST00000615863.2|NM_002984.4" +HGNC:10631 CCL4L1 C-C motif chemokine ligand 4 like 1 protein-coding gene gene with protein product Approved 17q12 alternate reference locus 17q12 alternate reference locus "AT744.2|LAG-1" "SCYA4L|CCL4L" "small inducible cytokine A4-like|chemokine (C-C motif) ligand 4-like|chemokine (C-C motif) ligand 4-like 1" Chemokine ligands 483 1999-05-17 2005-04-27 2016-03-01 2020-04-20 388372 X53682 NM_207007 CCDS32627 Q8NHW4 "8661057|1972563|15028295" MGI:98261 603782 +HGNC:24066 CCL4L2 C-C motif chemokine ligand 4 like 2 protein-coding gene gene with protein product Approved 17q12 17q12 chemokine (C-C motif) ligand 4-like 2 Chemokine ligands 483 2005-04-27 2016-03-01 2018-05-14 9560 ENSG00000276070 OTTHUMG00000188420 uc060mpu.1 NM_001291468 "CCDS77000|CCDS77001|CCDS77004|CCDS76999|CCDS77002|CCDS77003|CCDS77005" Q8NHW4 15028295 MGI:98261 610757 HGNC:24066 "ENST00000617405.5|NM_001291475.2" +HGNC:10632 CCL5 C-C motif chemokine ligand 5 protein-coding gene gene with protein product Approved 17q12 17q12 "RANTES|SISd|TCP228|MGC17164" "T-cell specific protein p288|T-cell specific RANTES protein|SIS-delta|regulated upon activation, normally T-expressed, and presumably secreted|beta-chemokine RANTES|small inducible cytokine subfamily A (Cys-Cys), member 5" "D17S136E|SCYA5" "small inducible cytokine A5 (RANTES)|chemokine (C-C motif) ligand 5" Chemokine ligands 483 1990-07-05 2002-08-23 2016-03-01 2016-03-01 6352 ENSG00000271503 OTTHUMG00000188396 uc060eeh.1 AF043341 NM_002985 CCDS11300 P13501 1691736 MGI:98262 RGD:69069 187011 ligandId:758 HGNC:10632 "ENST00000651122.1|NM_001278736.2" +HGNC:10634 CCL7 C-C motif chemokine ligand 7 protein-coding gene gene with protein product Approved 17q12 17q12 "MCP-3|NC28|FIC|MARC|MCP3" "monocyte chemoattractant protein 3|monocyte chemotactic protein 3" "SCYA6|SCYA7" "small inducible cytokine A7 (monocyte chemotactic protein 3)|chemokine (C-C motif) ligand 7" Chemokine ligands 483 1993-11-04 2002-08-23 2016-03-01 2016-10-05 6354 ENSG00000108688 OTTHUMG00000132889 uc002hhz.5 AF043338 NM_006273 CCDS11278 P80098 8461011 MGI:99512 RGD:1359152 158106 ligandId:759 HGNC:10634 "ENST00000378569.2|NM_006273.4" +HGNC:10635 CCL8 C-C motif chemokine ligand 8 protein-coding gene gene with protein product Approved 17q12 17q12 "MCP-2|HC14" SCYA8 "small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)|chemokine (C-C motif) ligand 8" Chemokine ligands 483 1996-11-14 2002-08-23 2016-03-01 2016-10-05 6355 ENSG00000108700 OTTHUMG00000132883 uc002hib.4 X99886 NM_005623 CCDS11280 P80075 9119400 "MGI:101878|MGI:108224" 602283 ligandId:772 HGNC:10635 "ENST00000394620.2|NM_005623.3" +HGNC:10610 CCL11 C-C motif chemokine ligand 11 protein-coding gene gene with protein product Approved 17q12 17q12 "eotaxin|MGC22554" eotaxin-1 SCYA11 "small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)|chemokine (C-C motif) ligand 11" Chemokine ligands 483 1996-04-24 2002-08-23 2016-03-01 2016-10-05 6356 ENSG00000172156 OTTHUMG00000132884 uc002hia.2 AB063614 NM_002986 CCDS11279 P51671 9169149 MGI:103576 RGD:3644 601156 ligandId:769 HGNC:10610 "ENST00000305869.4|NM_002986.3" +HGNC:10611 CCL13 C-C motif chemokine ligand 13 protein-coding gene gene with protein product Approved 17q12 17q12 "MCP-4|NCC-1|SCYL1|CKb10|MGC17134" SCYA13 "small inducible cytokine subfamily A (Cys-Cys), member 13|chemokine (C-C motif) ligand 13" Chemokine ligands 483 1997-02-11 2002-08-23 2016-03-01 2016-10-05 6357 ENSG00000181374 OTTHUMG00000132890 uc002hic.3 AJ001634 NM_005408 CCDS11281 Q99616 8661057 MGI:103576 RGD:1309255 601391 471038 ligandId:770 HGNC:10611 "ENST00000225844.7|NM_005408.3" +HGNC:10612 CCL14 C-C motif chemokine ligand 14 protein-coding gene gene with protein product Approved 17q12 17q12 "HCC-1|HCC-3|NCC-2|SCYL2|CKb1|MCIF" SCYA14 "small inducible cytokine subfamily A (Cys-Cys), member 14|chemokine (C-C motif) ligand 14" Chemokine ligands 483 1997-02-11 2002-08-23 2016-03-01 2016-03-01 6358 ENSG00000276409 OTTHUMG00000188403 uc010wcr.2 Z49270 NM_032962 "CCDS32624|CCDS45652" Q16627 8661057 601392 ligandId:753 HGNC:10612 "ENST00000618404.5|NM_032963.4" +HGNC:10613 CCL15 C-C motif chemokine ligand 15 protein-coding gene gene with protein product Approved 17q12 17q12 "HCC-2|NCC-3|SCYL3|MIP-5|Lkn-1|MIP-1d|HMRP-2B" "leukotactin 1|CC chemokine 3|macrophage inflammatory protein 5|chemokine CC-2|MIP-1 delta" SCYA15 "small inducible cytokine subfamily A (Cys-Cys), member 15|chemokine (C-C motif) ligand 15" Chemokine ligands 483 1997-02-11 2002-08-23 2016-03-01 2016-03-01 6359 ENSG00000275718 OTTHUMG00000188406 uc032gbw.1 AF031587 NM_004167 CCDS11304 Q16663 8661057 "MGI:98263|MGI:104533" 601393 ligandId:754 HGNC:10613 "ENST00000617897.2|NM_032965.6" +HGNC:44436 CCL15-CCL14 CCL15-CCL14 readthrough (NMD candidate) other readthrough Approved 17q12 17q12 2012-10-08 2013-05-09 2015-01-29 348249 ENSG00000275688 OTTHUMG00000188405 uc060eez.1 NR_027921 HGNC:44436 +HGNC:10614 CCL16 C-C motif chemokine ligand 16 protein-coding gene gene with protein product Approved 17q12 17q12 "NCC-4|SCYL4|LEC|HCC-4|LMC|LCC-1|CKb12|Mtn-1" SCYA16 "small inducible cytokine subfamily A (Cys-Cys), member 16|chemokine (C-C motif) ligand 16" Chemokine ligands 483 1997-02-11 2002-08-23 2016-03-01 2016-03-01 6360 ENSG00000275152 OTTHUMG00000188402 uc032gbo.3 AB007454 NM_004590 CCDS11303 O15467 8661057 601394 ligandId:1272 HGNC:10614 "ENST00000611905.2|NM_004590.4" +HGNC:10615 CCL17 C-C motif chemokine ligand 17 protein-coding gene gene with protein product Approved 16q21 16q21 "TARC|ABCD-2" SCYA17 "small inducible cytokine subfamily A (Cys-Cys), member 17|chemokine (C-C motif) ligand 17" Chemokine ligands 483 1996-10-26 2002-08-23 2016-03-01 2016-10-05 6361 ENSG00000102970 OTTHUMG00000133468 uc002elj.1 D43767 NM_002987 CCDS10780 Q92583 "8702936|9070951" MGI:1329039 RGD:619924 601520 ligandId:797 HGNC:10615 "ENST00000219244.9|NM_002987.3" +HGNC:10616 CCL18 C-C motif chemokine ligand 18 protein-coding gene gene with protein product Approved 17q12 17q12 "DC-CK1|PARC|AMAC-1|DCCK1|MIP-4|CKb7" pulmonary and activation-regulated SCYA18 "small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated|chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)|chemokine (C-C motif) ligand 18" Chemokine ligands 483 1997-01-08 2002-08-23 2016-03-01 2016-03-01 6362 ENSG00000275385 OTTHUMG00000188410 uc002hku.4 Y13710 NM_002988 CCDS11306 P55774 "9233607|10049593" MGI:98260 603757 ligandId:4382 HGNC:10616 "ENST00000616054.2|NM_002988.4" +HGNC:10617 CCL19 C-C motif chemokine ligand 19 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "ELC|MIP-3b|exodus-3|CKb11" "CC chemokine ligand 19|macrophage inflammatory protein 3-beta|beta chemokine exodus-3|CK beta-11|EBI1-ligand chemokine" SCYA19 "small inducible cytokine subfamily A (Cys-Cys), member 19|chemokine (C-C motif) ligand 19" Chemokine ligands 483 1997-02-19 2002-08-23 2016-03-01 2016-10-05 6363 ENSG00000172724 OTTHUMG00000019833 uc003zvn.4 AB000887 NM_006274 CCDS6570 Q99731 9153236 MGI:1346316 RGD:1310336 602227 ligandId:810 HGNC:10617 "ENST00000311925.7|NM_006274.3" +HGNC:10619 CCL20 C-C motif chemokine ligand 20 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "LARC|MIP-3a|exodus-1|ST38|CKb4" SCYA20 "small inducible cytokine subfamily A (Cys-Cys), member 20|chemokine (C-C motif) ligand 20" Chemokine ligands 483 1997-02-10 2002-08-23 2016-03-01 2016-03-01 6364 ENSG00000115009 OTTHUMG00000133189 uc002vpm.2 D86955 NM_004591 "CCDS2469|CCDS46536" P78556 "9038201|11352563" MGI:1329031 RGD:3646 601960 ligandId:808 HGNC:10619 "ENST00000358813.5|NM_004591.3" +HGNC:10620 CCL21 C-C motif chemokine ligand 21 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "SLC|exodus-2|TCA4|CKb9|6Ckine|ECL" "beta chemokine exodus-2|secondary lymphoid tissue chemokine|Efficient Chemoattractant for Lymphocytes" SCYA21 "small inducible cytokine subfamily A (Cys-Cys), member 21|chemokine (C-C motif) ligand 21" Chemokine ligands 483 1997-04-10 2002-08-23 2016-03-01 2016-10-05 6366 ENSG00000137077 OTTHUMG00000019838 uc003zvo.5 AB002409 NM_002989 CCDS6571 O00585 9235955 "MGI:1349183|MGI:1349182|MGI:3711256|MGI:3710514|MGI:5434896" RGD:1311996 602737 ligandId:811 HGNC:10620 "ENST00000259607.7|NM_002989.4" +HGNC:10621 CCL22 C-C motif chemokine ligand 22 protein-coding gene gene with protein product Approved 16q21 16q21 "MDC|STCP-1|ABCD-1|DC/B-CK|A-152E5.1|MGC34554" SCYA22 "small inducible cytokine subfamily A (Cys-Cys), member 22|chemokine (C-C motif) ligand 22" Chemokine ligands 483 1997-08-22 2002-08-23 2016-03-01 2016-10-05 6367 ENSG00000102962 OTTHUMG00000133454 uc002elh.4 U83171 NM_002990 CCDS10778 O00626 "9151897|9691168" MGI:1306779 RGD:619933 602957 ligandId:798 HGNC:10621 "ENST00000219235.5|NM_002990.5" +HGNC:10622 CCL23 C-C motif chemokine ligand 23 protein-coding gene gene with protein product Approved 17q12 17q12 "Ckb-8|MPIF-1|MIP-3|CKb8" SCYA23 "small inducible cytokine subfamily A (Cys-Cys), member 23|chemokine (C-C motif) ligand 23" Chemokine ligands 483 1997-11-14 2002-08-23 2016-03-01 2016-03-01 6368 ENSG00000274736 OTTHUMG00000188409 uc002hks.3 U58913 "NM_005064|NM_145898" "CCDS11305|CCDS59282" P55773 "9104803|10409433" "MGI:98263|MGI:104533" RGD:1303200 602494 ligandId:755 HGNC:10622 "ENST00000615050.2|NM_005064.6" +HGNC:10623 CCL24 C-C motif chemokine ligand 24 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "Ckb-6|MPIF-2|eotaxin-2|MPIF2" "CK-beta-6|myeloid progenitor inhibitory factor 2|eotaxin-2" SCYA24 "small inducible cytokine subfamily A (Cys-Cys), member 24|chemokine (C-C motif) ligand 24" Chemokine ligands 483 1997-11-14 2002-08-23 2016-03-01 2016-03-01 6369 ENSG00000106178 OTTHUMG00000156635 uc064emu.1 U85768 NM_002991 CCDS34670 O00175 "9104803|9598329" MGI:1928953 RGD:1310245 602495 ligandId:775 HGNC:10623 "ENST00000222902.7|NM_002991.3" +HGNC:10624 CCL25 C-C motif chemokine ligand 25 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TECK|Ckb15" "Ck beta-15|thymus expressed chemokine|TECKvar" SCYA25 "small inducible cytokine subfamily A (Cys-Cys), member 25|chemokine (C-C motif) ligand 25" Chemokine ligands 483 1997-11-14 2002-08-23 2016-03-01 2016-03-01 6370 ENSG00000131142 OTTHUMG00000141287 uc060ssu.1 U86358 NM_005624 "CCDS12194|CCDS56080" O15444 "9285413|9722960" MGI:1099448 RGD:1305530 602565 ligandId:817 HGNC:10624 "ENST00000315626.6|NM_005624.4" +HGNC:10625 CCL26 C-C motif chemokine ligand 26 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "MIP-4alpha|eotaxin-3|IMAC|MIP-4a|TSC-1" "macrophage inflammatory protein 4-alpha|small inducible cytokine A26|CC chemokine IMAC|chemokine N1|thymic stroma chemokine-1|eotaxin-3" SCYA26 "small inducible cytokine subfamily A (Cys-Cys), member 26|chemokine (C-C motif) ligand 26" Chemokine ligands 483 1999-06-09 2002-08-23 2016-03-01 2016-10-05 10344 ENSG00000006606 OTTHUMG00000130403 uc003udt.2 AF124601 NM_006072 CCDS5578 Q9Y258 10373330 MGI:3589281 RGD:1587817 604697 ligandId:776 HGNC:10625 "ENST00000005180.9|NM_001371938.1" +HGNC:10626 CCL27 C-C motif chemokine ligand 27 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "ALP|ILC|CTACK|skinkine|ESkine|PESKY|CTAK" "CC chemokine ILC|IL-11 Ralpha-locus chemokine|cutaneous T-cell attracting chemokine" SCYA27 "small inducible cytokine subfamily A (Cys-Cys), member 27|chemokine (C-C motif) ligand 27" Chemokine ligands 483 1999-07-30 2002-08-23 2016-03-01 2016-10-05 10850 ENSG00000213927 OTTHUMG00000019834 uc003zvm.1 AJ243542 NM_006664 CCDS6569 Q9Y4X3 "10556532|10588729" "MGI:1343459|MGI:1891389|MGI:3713752" RGD:1304660 604833 ligandId:3646 HGNC:10626 "ENST00000259631.5|NM_006664.4" +HGNC:17700 CCL28 C-C motif chemokine ligand 28 protein-coding gene gene with protein product Approved 5p12 05p12 "SCYA28|MEC|CCK1" "CC chemokine CCL28|mucosae-associated epithelial chemokine|small inducible cytokine subfamily A (Cys-Cys), member 28|small inducible cytokine A28" chemokine (C-C motif) ligand 28 Chemokine ligands 483 2002-08-22 2016-03-01 2016-03-01 56477 ENSG00000151882 OTTHUMG00000094811 uc003jnu.4 AF110384 NM_148672 "CCDS78006|CCDS3944" Q9NRJ3 "10781587|11295038" MGI:1861731 RGD:619937 605240 ligandId:3649 HGNC:17700 "ENST00000361115.4|NM_148672.3" +HGNC:21708 CCM2 CCM2 scaffold protein protein-coding gene gene with protein product Approved 7p13 07p13 "MGC4607|OSM" "malcavernin|osmosensing scaffold for MEKK3" C7orf22 "chromosome 7 open reading frame 22|cerebral cavernous malformation 2|CCM2 scaffolding protein" CCM adhesion complex 1940 2003-07-14 2004-02-18 2018-03-01 2021-05-26 83605 ENSG00000136280 OTTHUMG00000129246 uc003tmo.4 BC004903 NM_031443 "CCDS5500|CCDS34630|CCDS55108|CCDS55109" Q9BSQ5 9811928 MGI:2384924 RGD:1308067 LRG_664|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_664.xml 607929 119213 HGNC:21708 "ENST00000258781.11|NM_031443.4" HGNC:21708 +HGNC:16153 CCM2L CCM2 like scaffold protein protein-coding gene gene with protein product Approved 20q11.21 20q11.21 dJ310O13.5 C20orf160 "chromosome 20 open reading frame 160|cerebral cavernous malformation 2-like|CCM2 like scaffolding protein" 2001-07-17 2012-10-30 2018-03-01 2018-03-01 140706 ENSG00000101331 OTTHUMG00000032197 uc002wxf.3 AL031658 NM_080625 CCDS13195 Q9NUG4 22898778 MGI:2385159 RGD:1305202 HGNC:16153 "ENST00000452892.3|NM_001365692.1" +HGNC:2654 CCN1 cellular communication network factor 1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 GIG1 "IGFBP10|CYR61" cysteine rich angiogenic inducer 61 Cellular communication network factors 1046 1998-03-02 2018-10-11 2018-10-11 2018-10-11 3491 ENSG00000142871 OTTHUMG00000010577 uc001dle.4 AF031385 NM_001554 CCDS706 O00622 9135077 MGI:88613 RGD:620763 602369 470166 HGNC:2654 "ENST00000451137.7|NM_001554.5" +HGNC:2500 CCN2 cellular communication network factor 2 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 IGFBP8 CTGF connective tissue growth factor Cellular communication network factors 1046 1992-12-01 2018-10-11 2018-10-11 2018-10-11 1490 ENSG00000118523 OTTHUMG00000015573 uc003qcz.4 X78947 NM_001901 CCDS5151 P29279 1654338 MGI:95537 RGD:621392 121009 165904 ligandId:8927 HGNC:2500 "ENST00000367976.4|NM_001901.4" +HGNC:40164 CCN2-AS1 CCN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 AL133346.1 Antisense RNAs 1987 2021-07-30 2022-02-24 122152366 ENSG00000227220 OTTHUMG00000150056 33348573 +HGNC:7885 CCN3 cellular communication network factor 3 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 IGFBP9 NOV "nephroblastoma overexpressed gene|nephroblastoma overexpressed" Cellular communication network factors 1046 1993-11-05 2018-10-11 2018-10-11 2018-10-11 4856 ENSG00000136999 OTTHUMG00000164984 uc003yoq.3 X96584 NM_002514 CCDS6328 P48745 1334251 MGI:109185 RGD:621553 164958 HGNC:7885 "ENST00000259526.4|NM_002514.4" +HGNC:12769 CCN4 cellular communication network factor 4 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 WISP-1 "WISP1-OT1|WISP1-UT1|WISP1" "WISP1 overlapping transcript 1|WISP1 3'UTR-associated RNA 1|WISP1 overlapping transcript 1 (non-protein coding)|WNT1 inducible signaling pathway protein 1" Cellular communication network factors 1046 1999-01-22 2018-10-11 2018-10-11 2018-10-11 8840 ENSG00000104415 OTTHUMG00000164440 uc003yub.4 AF100779 NM_003882 "CCDS6372|CCDS56556|CCDS6371|CCDS56555" O95388 9843955 MGI:1197008 RGD:69431 603398 HGNC:12769 "ENST00000250160.11|NM_003882.4" +HGNC:12770 CCN5 cellular communication network factor 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CT58|CTGF-L|WISP-2" WISP2 WNT1 inducible signaling pathway protein 2 Cellular communication network factors 1046 1999-01-22 2018-10-11 2018-10-11 2018-10-17 8839 ENSG00000064205 OTTHUMG00000033071 uc061xfx.1 AF100780 NM_003881 "CCDS13336|CCDS82619" O76076 9843955 MGI:1328326 RGD:621867 603399 HGNC:12770 "ENST00000190983.5|NM_003881.4" +HGNC:12771 CCN6 cellular communication network factor 6 protein-coding gene gene with protein product Approved 6q21 06q21 WISP-3 WISP3 WNT1 inducible signaling pathway protein 3 Cellular communication network factors 1046 1999-01-22 2018-10-11 2018-10-11 2021-05-26 8838 ENSG00000112761 OTTHUMG00000185101 uc003pvo.4 AF100781 NM_003880 CCDS5098 O95389 9843955 MGI:2685581 RGD:1564120 603400 120528 HGNC:12771 "ENST00000368666.7|NM_198239.2" HGNC:12771 +HGNC:1577 CCNA1 cyclin A1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 CT146 Cyclins 473 1999-01-06 2020-09-17 8900 ENSG00000133101 OTTHUMG00000016733 uc010teo.3 U66838 NM_003914 "CCDS9357|CCDS45030|CCDS45031" P78396 9041194 MGI:108042 RGD:1310639 604036 HGNC:1577 "ENST00000255465.7|NM_003914.4" +HGNC:1578 CCNA2 cyclin A2 protein-coding gene gene with protein product Approved 4q27 04q27 "CCNA|CCN1" Cyclins 473 1990-04-09 2021-05-26 890 ENSG00000145386 OTTHUMG00000133072 uc062zje.1 NM_001237 CCDS3723 P20248 1675006 MGI:108069 RGD:621059 123835 HGNC:1578 "ENST00000274026.10|NM_001237.5" +HGNC:1579 CCNB1 cyclin B1 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 G2/mitotic-specific cyclin B1 CCNB Cyclins 473 1991-12-10 2020-09-17 891 ENSG00000134057 OTTHUMG00000097817 uc003jvm.4 U22364 NM_031966 CCDS3997 P14635 1386342 MGI:88302 RGD:2291 123836 HGNC:1579 "ENST00000256442.10|NM_031966.4" +HGNC:19437 CCNB1IP1 cyclin B1 interacting protein 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 HEI10 human enhancer of invasion 10 C14orf18 "chromosome 14 open reading frame 18|cyclin B1 interacting protein 1, E3 ubiquitin protein ligase" "Ring finger proteins|Small nucleolar RNA protein coding host genes" "58|1835" 2003-10-02 2004-01-14 2016-03-18 2016-03-18 57820 ENSG00000100814 OTTHUMG00000029509 uc021rnp.2 AF216381 "NM_021178|NM_182849|NM_182851|NM_182852" CCDS9547 Q9NPC3 "12612082|21779533" MGI:2685134 RGD:1561930 CCNB1IP1 608249 HGNC:19437 "ENST00000358932.9|NM_021178.5" +HGNC:37693 CCNB1IP1P1 cyclin B1 interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 1p34.1 01p34.1 2010-01-14 2014-11-19 728887 ENSG00000229815 OTTHUMG00000008582 NG_016546 PGOHUM00000244697 HGNC:37693 +HGNC:37694 CCNB1IP1P2 cyclin B1 interacting protein 1 pseudogene 2 pseudogene pseudogene Approved 20q13.12 20q13.12 2010-01-14 2014-11-19 100505892 ENSG00000230860 OTTHUMG00000032597 NG_029632 PGOHUM00000247547 HGNC:37694 +HGNC:37695 CCNB1IP1P3 cyclin B1 interacting protein 1 pseudogene 3 pseudogene pseudogene Approved Xq21.33 Xq21.33 2010-01-14 2014-11-18 100128456 ENSG00000231001 OTTHUMG00000021978 NG_016614 PGOHUM00000241452 HGNC:37695 +HGNC:1580 CCNB2 cyclin B2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 HsT17299 Cyclins 473 1999-02-05 2020-09-17 9133 ENSG00000157456 OTTHUMG00000132715 uc002afz.4 AF002822 NM_004701 CCDS10170 O95067 MGI:88311 RGD:1308176 602755 HGNC:1580 "ENST00000288207.7|NM_004701.4" +HGNC:50850 CCNB2P1 cyclin B2 pseudogene 1 pseudogene pseudogene Approved 7p21.3 07p21.3 CCNB2 pseudogene 1 2014-07-03 2015-04-07 2015-04-07 100132073 ENSG00000214998 OTTHUMG00000152021 NG_022528 HGNC:50850 +HGNC:18709 CCNB3 cyclin B3 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CYCB3 Cyclins 473 2002-05-30 2021-05-26 85417 ENSG00000147082 OTTHUMG00000021519 uc004dox.5 AJ314764 NM_033031 "CCDS14331|CCDS14332" Q8WWL7 "11846420|12185076" MGI:2183443 RGD:1564367 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CCNB3 300456 HGNC:18709 "ENST00000376042.6|NM_033031.3" +HGNC:50851 CCNB3P1 cyclin B3 pseudogene 1 pseudogene pseudogene Approved 5p14.1 05p14.1 CCNB3 pseudogene 1 2014-07-03 2015-04-07 2015-04-07 100131678 ENSG00000249616 OTTHUMG00000161967 NG_021843 PGOHUM00000235169 HGNC:50851 +HGNC:1581 CCNC cyclin C protein-coding gene gene with protein product Approved 6q16.2 06q16.2 CycC "Cyclins|Mediator complex" "473|1061" 1991-12-10 2020-09-17 892 ENSG00000112237 OTTHUMG00000015268 uc003pqe.4 NM_005190 "CCDS47461|CCDS34502|CCDS87420" P24863 1833066 MGI:1858199 RGD:70905 123838 HGNC:1581 "ENST00000520429.6|NM_005190.4" +HGNC:1582 CCND1 cyclin D1 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 U21B31 "parathyroid adenomatosis 1|B-cell CLL/lymphoma 1|G1/S-specific cyclin D1" "BCL1|D11S287E|PRAD1" cyclin D1 (PRAD1: parathyroid adenomatosis 1) Cyclins 473 1991-06-06 2005-09-12 2021-05-26 595 ENSG00000110092 OTTHUMG00000167877 uc001opa.4 Z23022 NM_053056 CCDS8191 P24385 "1826542|1833066" MGI:88313 RGD:68384 LRG_990|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_990.xml CCND1 168461 119217 HGNC:1582 "ENST00000227507.3|NM_053056.3" +HGNC:1583 CCND2 cyclin D2 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 G1/S-specific cyclin D2 Cyclins 473 1991-12-10 2021-05-26 894 ENSG00000118971 OTTHUMG00000168123 uc001qmo.4 AF518005 NM_001759 CCDS8524 P30279 1386335 MGI:88314 RGD:621083 CCND2 123833 401370 HGNC:1583 "ENST00000261254.8|NM_001759.4" HGNC:1583 +HGNC:49398 CCND2-AS1 CCND2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.32 12p13.32 CCND2-AS2 CCND2 antisense RNA 2 Antisense RNAs 1987 2013-10-28 2018-08-17 103752584 ENSG00000255920 OTTHUMG00000168157 BG413373 NR_125790 27923660 CCND2-AS1 HGNC:49398 +HGNC:1584 CCND2P1 cyclin D2 pseudogene 1 pseudogene pseudogene Approved 11q12.3 11q12.3 CCND2P cyclin D2 pseudogene 1991-12-10 2013-10-28 2013-10-28 2013-10-28 895 ENSG00000256847 OTTHUMG00000167849 M91003 NG_001092 "1386335|1386336" PGOHUM00000242760 HGNC:1584 +HGNC:1585 CCND3 cyclin D3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 Cyclins 473 1991-12-10 2021-05-26 896 ENSG00000112576 OTTHUMG00000014690 uc003orn.4 NM_001760 "CCDS4863|CCDS75452|CCDS47425|CCDS47426|CCDS47427" P30281 1386335 MGI:88315 RGD:2293 LRG_998|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_998.xml CCND3 123834 HGNC:1585 "ENST00000372991.9|NM_001760.5" +HGNC:1586 CCND3P1 cyclin D3 pseudogene 1 pseudogene pseudogene Approved 10p11.23 10p11.23 CCND3P cyclin D3 pseudogene 1991-12-10 2014-07-03 2014-07-03 2014-07-03 897 ENSG00000224473 OTTHUMG00000017892 M90815 NG_001093 "1386335|1386336" PGOHUM00000238391 HGNC:1586 +HGNC:50852 CCND3P2 cyclin D3 pseudogene 2 pseudogene pseudogene Approved 18q23 18q23 2014-07-03 2014-07-03 106480307 ENSG00000265836 OTTHUMG00000179328 NG_044317 PGOHUM00000235102 HGNC:50852 +HGNC:1587 CCNDBP1 cyclin D1 binding protein 1 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 "DIP1|GCIP|HHM" "D-type cyclin-interacting protein 1|MAID protein|grap2 and cyclin D interacting protein" cyclin D-type binding-protein 1 1998-10-02 2016-04-26 2020-09-17 23582 ENSG00000166946 OTTHUMG00000130703 uc001zqv.4 AF082569 NM_012142 CCDS10092 O95273 10801854 MGI:109595 RGD:1304669 607089 HGNC:1587 "ENST00000300213.9|NM_012142.5" +HGNC:1589 CCNE1 cyclin E1 protein-coding gene gene with protein product Approved 19q12 19q12 "cyclin Es|cyclin Et" CCNE Cyclins 473 1991-12-10 2020-09-17 898 ENSG00000105173 OTTHUMG00000177626 uc002nsn.4 M73812 NM_001238 "CCDS12419|CCDS46035" P24864 1833066 MGI:88316 RGD:2294 CCNE1 123837 HGNC:1589 "ENST00000262643.8|NM_001238.4" +HGNC:1590 CCNE2 cyclin E2 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 CYCE2 Cyclins 473 1999-02-05 2020-09-17 9134 ENSG00000175305 OTTHUMG00000164696 uc064osf.1 AF091433 "NM_057749|NM_004702" CCDS6264 O96020 "9840927|9840943" MGI:1329034 RGD:1307783 603775 HGNC:1590 "ENST00000308108.9|NM_057749.3" +HGNC:1591 CCNF cyclin F protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FBX1|FBXO1" "Cyclins|F-boxes other|MicroRNA protein coding host genes" "473|560|1691" 1994-05-18 2021-05-26 899 ENSG00000162063 OTTHUMG00000128858 uc002cqd.2 Z36714 NM_001761 CCDS10467 P41002 7896286 MGI:102551 RGD:67401 600227 HGNC:1591 "ENST00000397066.9|NM_001761.3" HGNC:1591 +HGNC:1592 CCNG1 cyclin G1 protein-coding gene gene with protein product Approved 5q34 05q34 CCNG Cyclins 473 1996-05-07 2020-09-17 900 ENSG00000113328 OTTHUMG00000130380 uc063jig.1 D78341 NM_004060 CCDS4360 P51959 "8954786|8806701" MGI:102890 RGD:2295 601578 HGNC:1592 "ENST00000340828.7|NM_004060.4" +HGNC:39177 CCNG1P1 cyclin G1 pseudogene 1 pseudogene pseudogene Approved 6q23.2 06q23.2 2010-11-15 2010-11-15 100130820 ENSG00000218991 OTTHUMG00000015591 NG_022372 PGOHUM00000243779 HGNC:39177 +HGNC:1593 CCNG2 cyclin G2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 Cyclins 473 1997-08-22 2020-09-17 901 ENSG00000138764 OTTHUMG00000130100 uc003hkq.5 BC032518 NM_004354 CCDS3581 Q16589 8806701 MGI:1095734 RGD:1305002 603203 HGNC:1593 "ENST00000316355.10|NM_004354.3" +HGNC:50853 CCNG2P1 cyclin G2 pseudogene 1 pseudogene pseudogene Approved 12q21.1 12q21.1 2014-07-03 2014-07-03 100128681 ENSG00000258112 OTTHUMG00000169731 NG_021693 PGOHUM00000239520 HGNC:50853 +HGNC:1594 CCNH cyclin H protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "p34|p37|CycH" "CDK-activating kinase complex subunit|cyclin-dependent kinase-activating kinase complex subunit|MO15-associated protein|CAK complex subunit" "Cyclins|CDK activating kinase complex" "473|1744" 1994-12-16 2020-09-17 902 ENSG00000134480 OTTHUMG00000119077 uc003kjb.4 U12685 NM_001239 "CCDS4064|CCDS87309" P51946 9465303 MGI:1913921 RGD:69419 601953 HGNC:1594 "ENST00000256897.9|NM_001239.4" +HGNC:50854 CCNHP1 cyclin H pseudogene 1 pseudogene pseudogene Approved 4q34.3 04q34.3 2014-07-03 2014-07-03 100128118 ENSG00000251433 OTTHUMG00000160684 NG_022041 PGOHUM00000245780 HGNC:50854 +HGNC:1595 CCNI cyclin I protein-coding gene gene with protein product Approved 4q21.1 04q21.1 CCNI1 Cyclins 473 2000-06-29 2014-11-19 10983 ENSG00000118816 OTTHUMG00000130106 uc003hkm.5 D50310 NM_006835 CCDS3580 Q14094 7493655 MGI:1341077 RGD:1309209 618783 HGNC:1595 "ENST00000237654.9|NM_006835.3" +HGNC:33869 CCNI2 cyclin I family member 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ16793 cyclin I family, member 2 Cyclins 473 2008-02-21 2015-11-18 2015-11-18 645121 ENSG00000205089 OTTHUMG00000059737 uc003kxq.3 BC132837 NM_001039780 "CCDS75297|CCDS34236" Q6ZMN8 23707792 HGNC:33869 "ENST00000378731.6|NM_001039780.4" +HGNC:23434 CCNJ cyclin J protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "FLJ10895|bA690P14.1" Cyclins 473 2004-05-27 2019-02-18 54619 ENSG00000107443 OTTHUMG00000018823 uc010qoq.3 AK001757 NM_019084 "CCDS44463|CCDS44462|CCDS7445" Q5T5M9 25672416 MGI:2443297 RGD:1306399 HGNC:23434 "ENST00000465148.3|NM_001134375.2" +HGNC:25876 CCNJL cyclin J like protein-coding gene gene with protein product Approved 5q33.3 05q33.3 FLJ14166 cyclin J-like Cyclins 473 2006-04-07 2016-01-06 2016-01-06 79616 ENSG00000135083 OTTHUMG00000130325 uc003lyb.2 BC013353 NM_024565 "CCDS78082|CCDS4350" Q8IV13 12477932 MGI:2685723 RGD:1561384 HGNC:25876 "ENST00000257536.13|NM_001308173.3" +HGNC:22512 CCNJP1 cyclin J pseudogene 1 pseudogene pseudogene Approved 7p11.2 07p11.2 CCNJP cyclin J pseudogene 2004-06-02 2010-03-17 2010-03-17 2020-04-20 100128459 ENSG00000227491 OTTHUMG00000156229 NG_017085 PGOHUM00000232713 HGNC:22512 +HGNC:37997 CCNJP2 cyclin J pseudogene 2 pseudogene pseudogene Approved 1p22.1 01p22.1 2010-03-17 2014-11-19 100418724 ENSG00000223896 OTTHUMG00000010898 NG_022793 PGOHUM00000244798 HGNC:37997 +HGNC:1596 CCNK cyclin K protein-coding gene gene with protein product Approved 14q32.2 14q32.2 CPR4 "Cyclins|P-TEFb complex subunits" "473|1281" 1998-12-22 2021-05-26 8812 ENSG00000090061 OTTHUMG00000171495 uc001ygi.5 AF060515 NM_001099402 CCDS45160 O75909 "9632813|10574912" MGI:1276106 RGD:1595690 603544 HGNC:1596 "ENST00000389879.9|NM_001099402.2" HGNC:1596 +HGNC:20569 CCNL1 cyclin L1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 ania-6a Cyclins 473 2003-03-07 2015-08-24 57018 ENSG00000163660 OTTHUMG00000158713 uc003fbf.4 AF180920 NM_020307 "CCDS77847|CCDS3178" Q9UK58 11980906 MGI:1922664 RGD:620864 613384 HGNC:20569 "ENST00000295926.8|NM_020307.4" +HGNC:20570 CCNL2 cyclin L2 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "ania-6b|PCEE|SB138|HLA-ISO|CCNS" cyclin S CCNM cyclin M Cyclins 473 2003-03-07 2015-08-24 81669 ENSG00000221978 OTTHUMG00000002917 uc001afi.3 AF251294 NM_030937 "CCDS30557|CCDS30558" Q96S94 14725631 MGI:1927119 RGD:1309149 613482 HGNC:20570 "ENST00000400809.8|NM_030937.6" +HGNC:50855 CCNL2P1 cyclin L2 pseudogene 1 pseudogene pseudogene Approved 4p13 04p13 2014-07-03 2014-07-03 100418743 ENSG00000248283 OTTHUMG00000162545 NG_025094 PGOHUM00000263127 HGNC:50855 +HGNC:18576 CCNO cyclin O protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "UDG2|FLJ22422|UNG2" CCNU cyclin U Cyclins 473 2002-04-26 2007-07-26 2007-07-26 2021-05-26 10309 ENSG00000152669 OTTHUMG00000162598 uc003jpw.4 M87499 NM_021147 CCDS34157 P22674 MGI:2145534 RGD:1565217 607752 403591 HGNC:18576 "ENST00000282572.5|NM_021147.5" HGNC:18576 +HGNC:55543 CCNO-DT CCNO divergent transcript non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Divergent transcripts 1990 2021-03-24 2021-03-24 121009647 ENSG00000251307 +HGNC:25805 CCNP cyclin P protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ13265 CNTD2 cyclin N-terminal domain containing 2 Cyclins 473 2006-03-31 2020-01-30 2020-01-30 2020-01-31 79935 ENSG00000105219 OTTHUMG00000160481 uc010xvi.2 AK023327 NM_024877 CCDS12551 Q9H8S5 "11237006|30087414" HGNC:25805 "ENST00000430325.7|NM_024877.4" +HGNC:28434 CCNQ cyclin Q protein-coding gene gene with protein product Approved Xq28 Xq28 CycM cyclin M FAM58A "family with sequence similarity 58, member A|family with sequence similarity 58 member A" Cyclins 473 2005-05-19 2017-07-14 2017-07-14 2021-05-26 92002 ENSG00000262919 OTTHUMG00000024206 uc033fau.2 BC032121 NM_152274 CCDS76054 Q8N1B3 "18297069|24218572|27104747" MGI:1916359 RGD:1305651 300708 159514 HGNC:28434 "ENST00000576892.8|NM_152274.5" HGNC:28434 +HGNC:27373 CCNQP1 CCNQ pseudogene 1 pseudogene pseudogene Approved 1q32.1 01q32.1 "FAM58B|FAM58BP" "family with sequence similarity 58, member B|family with sequence similarity 58, member B, pseudogene|family with sequence similarity 58 member B, pseudogene" 2005-05-19 2018-02-20 2018-02-20 2018-02-20 339521 ENSG00000233827 OTTHUMG00000035720 NG_033015 15897902 MGI:1916359 HGNC:27373 +HGNC:38436 CCNQP2 CCNQ pseudogene 2 pseudogene pseudogene Approved Yq12 Yq12 FAM58Y "FAM58AP1|FAM58CP" "family with sequence similarity 58, member A pseudogene 1|family with sequence similarity 58, member C, pseudogene|family with sequence similarity 58 member C, pseudogene" 2010-05-11 2018-02-20 2018-02-20 2018-02-20 100421487 ENSG00000231514 OTTHUMG00000036813 NG_021933 HGNC:38436 +HGNC:42022 CCNQP3 CCNQ pseudogene 3 pseudogene pseudogene Approved 13q12.11 13q12.11 FAM58DP "family with sequence similarity 58, member D, pseudogene|family with sequence similarity 58 member D, pseudogene" 2011-06-01 2018-02-20 2018-02-20 2018-02-20 100421566 ENSG00000231184 OTTHUMG00000016487 NG_024890 PGOHUM00000248510 HGNC:42022 +HGNC:1599 CCNT1 cyclin T1 protein-coding gene gene with protein product Approved 12q13.11-q13.12 12q13.11-q13.12 "CCNT|CYCT1" HIVE1 human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1 "Cyclins|P-TEFb complex subunits" "473|1281" 1998-04-29 2018-02-13 904 ENSG00000129315 OTTHUMG00000170393 uc001rsd.5 AF048730 NM_001240 "CCDS8766|CCDS61109" O60563 "9491887|9499409" MGI:1328363 RGD:1311151 143055 HGNC:1599 "ENST00000261900.8|NM_001240.4" +HGNC:1600 CCNT2 cyclin T2 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "Cyclins|P-TEFb complex subunits" "473|1281" 1998-04-29 2014-11-18 905 ENSG00000082258 OTTHUMG00000131712 uc002tuc.3 AF048731 NM_058241 "CCDS2175|CCDS2174" O60583 "9499409|10465067" MGI:1920199 RGD:1309205 603862 HGNC:1600 "ENST00000264157.10|NM_058241.3" +HGNC:40130 CCNT2-AS1 CCNT2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.3 02q21.3 Antisense RNAs 1987 2013-10-15 2014-11-19 100129961 ENSG00000224043 OTTHUMG00000154855 NR_036549 CCNT2-AS1 HGNC:40130 +HGNC:39178 CCNT2P1 cyclin T2 pseudogene 1 pseudogene pseudogene Approved 1p13.3 01p13.3 2010-11-15 2010-11-15 100418763 ENSG00000225672 OTTHUMG00000034495 NG_026970 PGOHUM00000244141 HGNC:39178 +HGNC:23354 CCNY cyclin Y protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "CFP1|CBCP1" C10orf9 chromosome 10 open reading frame 9 Cyclins 473 2003-11-12 2007-02-09 2007-02-09 2016-10-05 219771 ENSG00000108100 OTTHUMG00000017955 uc001iyw.6 "AF413522|AY504868" NM_181698 "CCDS60513|CCDS7189|CCDS7190" Q8ND76 20441050 MGI:1915224 RGD:1565969 612786 HGNC:23354 "ENST00000374704.8|NM_145012.6" +HGNC:55252 CCNY-AS1 CCNY antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 Antisense RNAs 1987 2020-09-24 2020-09-24 118732302 ENSG00000271335 +HGNC:26868 CCNYL1 cyclin Y like 1 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 FLJ40432 cyclin Y-like 1 "Cyclins|MicroRNA protein coding host genes" "473|1691" 2007-02-09 2015-11-12 2015-11-12 151195 ENSG00000163249 OTTHUMG00000132946 uc002vci.4 AK095479 NM_152523 "CCDS82564|CCDS46503|CCDS2377" Q8N7R7 MGI:2138614 RGD:1310683 HGNC:26868 "ENST00000295414.8|NM_001330218.2" +HGNC:23495 CCNYL2 cyclin Y like 2 (pseudogene) pseudogene pseudogene Approved 10q11.21 10q11.21 "bA178A10.2|CCNYL2P" C10orf21 "chromosome 10 open reading frame 21|cyclin Y-like 2" Cyclins 473 2004-05-27 2007-02-09 2019-02-19 2019-02-19 414194 ENSG00000182632 OTTHUMG00000018009 BC039000 XM_936368 Q5T2Q4 HGNC:23495 +HGNC:33206 CCNYL3 cyclin Y like 3 (pseudogene) pseudogene pseudogene Approved 16p11.2 16p11.2 cyclin Y like 3 Cyclins 473 2007-02-09 2019-03-06 2020-06-15 102724928 ENSG00000216671 NR_158158 P0C7X3 HGNC:33206 +HGNC:54655 CCNYL4 cyclin Y like 4 (pseudogene) pseudogene pseudogene Approved 10p11.1 10p11.1 2019-11-12 2020-01-21 100129055 ENSG00000224761 NR_024524 +HGNC:54656 CCNYL5 cyclin Y like 5 (pseudogene) pseudogene pseudogene Approved Xq12 Xq12 2019-11-12 2020-01-21 100130724 ENSG00000230039 OTTHUMG00000021726 NG_009045 PGOHUM00000304672 +HGNC:54657 CCNYL6 cyclin Y like 6 (pseudogene) pseudogene pseudogene Approved 19p12 19p12 2019-11-12 2020-01-21 641367 ENSG00000269845 OTTHUMG00000182873 NR_024523 +HGNC:54659 CCNYL7 cyclin Y like 7 (pseudogene) pseudogene pseudogene Approved 16p12.2 16p12.2 2019-11-12 2020-01-21 100419017 ENSG00000261528 OTTHUMG00000177017 NG_026401 PGOHUM00000293743 +HGNC:24342 CCP110 centriolar coiled-coil protein 110 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "KIAA0419|CP110" centriolar coiled coil protein 110kDa 2011-05-26 2016-06-01 2016-06-01 9738 ENSG00000103540 OTTHUMG00000131459 uc002dgk.5 AB007879 NM_014711 "CCDS10579|CCDS55992" O43303 "9455477|12361598|16760425" MGI:2141942 RGD:1310509 609544 HGNC:24342 +HGNC:24227 CCPG1 cell cycle progression 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "KIAA1254|CPR8" MicroRNA protein coding host genes 1691 2004-07-02 2016-10-05 9236 ENSG00000260916 OTTHUMG00000172678 uc002acv.3 AF212228 NM_004748 "CCDS42039|CCDS55966|CCDS55967" Q9ULG6 "9383053|10574462" MGI:1196419 RGD:1311261 611326 HGNC:24227 "ENST00000442196.8|NM_001204450.2" +HGNC:1602 CCR1 C-C motif chemokine receptor 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CKR-1|MIP1aR|CD191" "SCYAR1|CMKBR1" chemokine (C-C motif) receptor 1 "CD molecules|C-C motif chemokine receptors" "471|1091" 1993-10-14 2016-03-14 2016-10-05 1230 ENSG00000163823 OTTHUMG00000133451 uc003cph.2 NM_001295 CCDS2737 P32246 7679328 MGI:104618 RGD:708446 601159 449063 objectId:58 CD191 HGNC:1602 "ENST00000296140.4|NM_001295.3" +HGNC:1603 CCR2 C-C motif chemokine receptor 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CC-CKR-2|CKR2|MCP-1-R|CD192|FLJ78302" CMKBR2 chemokine (C-C motif) receptor 2 "CD molecules|C-C motif chemokine receptors" "471|1091" 1995-05-30 2016-03-14 2020-04-20 729230 ENSG00000121807 OTTHUMG00000156466 uc003cpn.5 NM_000647 "CCDS46813|CCDS43078" P41597 8146186 MGI:106185 RGD:620876 601267 objectId:59 CD192 HGNC:1603 "ENST00000445132.3|NM_001123396.4" +HGNC:1604 CCR3 C-C motif chemokine receptor 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CC-CKR-3|CKR3|CD193" CMKBR3 chemokine (C-C motif) receptor 3 "CD molecules|C-C motif chemokine receptors" "471|1091" 1995-05-30 2016-03-14 2016-10-05 1232 ENSG00000183625 OTTHUMG00000133484 uc003cpg.3 AF247361 NM_001164680 "CCDS54574|CCDS2738" P51677 MGI:104616 RGD:620593 601268 objectId:60 CD193 HGNC:1604 "ENST00000395940.3|NM_178329.3" +HGNC:1605 CCR4 C-C motif chemokine receptor 4 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "CC-CKR-4|CMKBR4|CKR4|k5-5|ChemR13|CD194" chemokine (C-C motif) receptor 4 "CD molecules|C-C motif chemokine receptors" "471|1091" 1996-05-15 2016-03-14 2016-10-05 1233 ENSG00000183813 OTTHUMG00000130752 uc003cfg.2 X85740 NM_005508 CCDS2656 P51679 "7642634|8884276" MGI:107824 RGD:620594 604836 objectId:61 CD194 HGNC:1605 "ENST00000330953.6|NM_005508.5" +HGNC:1606 CCR5 C-C motif chemokine receptor 5 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CKR-5|CC-CKR-5|CKR5|CD195|IDDM22" CMKBR5 "chemokine (C-C motif) receptor 5|chemokine (C-C motif) receptor 5 (gene/pseudogene)|C-C motif chemokine receptor 5 (gene/pseudogene)" "CD molecules|C-C motif chemokine receptors" "471|1091" 1996-05-15 2020-05-01 2020-05-01 1234 ENSG00000160791 OTTHUMG00000133481 uc062izs.1 NM_000579 CCDS2739 P51681 "8639485|9284370|20210993" MGI:107182 RGD:620596 601373 324270 objectId:62 CD195 HGNC:1606 "ENST00000292303.5|NM_001394783.1" +HGNC:54398 CCR5AS CCR5 antisense RNA non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 Long non-coding RNAs with non-systematic symbols 1992 2019-06-19 2019-06-19 102724297 ENSG00000223552 NR_125406 31209403 HGNC:54398 +HGNC:1607 CCR6 C-C motif chemokine receptor 6 protein-coding gene gene with protein product Approved 6q27 06q27 "CKR-L3|GPR-CY4|CMKBR6|GPR29|DRY-6|DCR2|BN-1|CD196" STRL22 chemokine (C-C motif) receptor 6 "CD molecules|C-C motif chemokine receptors" "471|1091" 1997-04-21 2016-03-14 2016-03-14 1235 ENSG00000112486 OTTHUMG00000016015 uc010kkm.3 U68030 NM_001394582 CCDS5298 P51684 8886020 MGI:1333797 RGD:1308562 601835 377602 objectId:63 CD196 HGNC:1607 "ENST00000341935.10|NM_031409.4" +HGNC:1608 CCR7 C-C motif chemokine receptor 7 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "BLR2|CDw197|CD197" "CMKBR7|EBI1" chemokine (C-C motif) receptor 7 "CD molecules|C-C motif chemokine receptors" "471|1091" 1994-05-17 2016-03-14 2016-10-05 1236 ENSG00000126353 OTTHUMG00000133375 uc002huw.4 NM_001301714 "CCDS11369|CCDS77026" P32248 8383238 MGI:103011 RGD:735151 600242 objectId:64 CD197 HGNC:1608 "ENST00000246657.2|NM_001838.4" +HGNC:1609 CCR8 C-C motif chemokine receptor 8 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "CY6|TER1|CKR-L1|GPR-CY6|CDw198" "CMKBRL2|CMKBR8" chemokine (C-C motif) receptor 8 "CD molecules|C-C motif chemokine receptors" "471|1091" 1997-04-21 2016-03-14 2016-10-05 1237 ENSG00000179934 OTTHUMG00000131290 uc010hhr.3 D49919 NM_005201 CCDS2684 P51685 "8816377|8886020" MGI:1201402 RGD:1304893 601834 objectId:65 CDw198 HGNC:1609 "ENST00000326306.5|NM_005201.4" +HGNC:1610 CCR9 C-C motif chemokine receptor 9 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "GPR-9-6|CDw199" GPR28 chemokine (C-C motif) receptor 9 "CD molecules|C-C motif chemokine receptors" "471|1091" 1999-09-17 2016-03-14 2016-03-14 10803 ENSG00000173585 OTTHUMG00000133450 uc003coz.3 AJ132337 NM_001256369 "CCDS2733|CCDS2732" P51686 10229797 MGI:1341902 RGD:628750 604738 objectId:66 CDw199 HGNC:1610 "ENST00000357632.7|NM_031200.3" +HGNC:4474 CCR10 C-C motif chemokine receptor 10 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 GPR2 "G protein-coupled receptor 2|chemokine (C-C motif) receptor 10" C-C motif chemokine receptors 1091 1994-07-25 2004-11-12 2016-03-14 2016-10-05 2826 ENSG00000184451 OTTHUMG00000132301 uc002iax.5 AF215981 NM_016602 CCDS11435 P46092 7851889 MGI:1096320 RGD:1310716 600240 objectId:67 HGNC:4474 "ENST00000332438.4|NM_016602.3" +HGNC:39812 CCR12P C-C motif chemokine receptor 12, pseudogene pseudogene pseudogene Approved 13q32.3 13q32.3 GPR183P1 "G protein-coupled receptor 183 pseudogene 1|chemokine (C-C motif) receptor 12, pseudogene" 2011-03-29 2011-06-09 2016-03-14 2016-03-14 100133168 ENSG00000238241 OTTHUMG00000017269 NG_030243 PGOHUM00000248479 HGNC:39812 +HGNC:1612 CCRL2 C-C motif chemokine receptor like 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "HCR|CRAM-B|CKRX|CRAM-A|ACKR5" atypical chemokine receptor 5 chemokine (C-C motif) receptor-like 2 Atypical chemokine receptors 1090 1999-09-17 2013-07-18 2016-03-14 2016-10-05 9034 ENSG00000121797 OTTHUMG00000156318 uc003cpp.5 AF014958 NM_001130910 "CCDS43079|CCDS46814" O00421 9473515 MGI:1920904 RGD:1311811 608379 objectId:78 HGNC:1612 "ENST00000399036.4|NM_003965.5" +HGNC:1613 CCS copper chaperone for superoxide dismutase protein-coding gene gene with protein product Approved 11q13.2 11q13.2 1999-07-23 2014-11-19 9973 ENSG00000173992 OTTHUMG00000167238 uc001oir.4 AF002210 NM_005125 CCDS8146 O14618 9295278 MGI:1333783 RGD:620403 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 603864 HGNC:1613 "ENST00000533244.6|NM_005125.2" +HGNC:29578 CCSAP centriole, cilia and spindle associated protein protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "FLJ41471|CSAP" centriole and spindle-associated protein C1orf96 "chromosome 1 open reading frame 96|centriole, cilia and spindle-associated protein" 2005-05-31 2012-06-19 2016-01-19 2016-01-19 126731 ENSG00000154429 OTTHUMG00000037663 uc001htl.4 BC071609 NM_145257 CCDS1577 Q6IQ19 22493317 MGI:1920670 RGD:1563235 616762 HGNC:29578 "ENST00000284617.7|NM_145257.5" +HGNC:29349 CCSER1 coiled-coil serine rich protein 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 KIAA1680 FAM190A "family with sequence similarity 190, member A|coiled-coil serine-rich protein 1" 2009-07-09 2012-12-03 2015-11-05 2020-04-20 401145 ENSG00000184305 OTTHUMG00000160950 uc003hsv.5 NM_001145065 "CCDS47099|CCDS47100" Q9C0I3 11214970 MGI:3045354 RGD:1565731 618934 HGNC:29349 "ENST00000509176.6|NM_001145065.2" +HGNC:29197 CCSER2 coiled-coil serine rich protein 2 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "KIAA1128|FAM190B" "KIAA1128|family with sequence similarity 190, member B|coiled-coil serine-rich protein 2" 2004-05-27 2012-12-03 2015-11-05 2015-11-05 54462 ENSG00000107771 OTTHUMG00000018641 uc001kdh.3 NM_018999 "CCDS60583|CCDS73159|CCDS60582|CCDS31235" Q9H7U1 10574461 MGI:101859 RGD:1304626 HGNC:29197 "ENST00000372088.8|NM_001284240.2" +HGNC:1615 CCT2 chaperonin containing TCP1 subunit 2 protein-coding gene gene with protein product Approved 12q15 12q15 Cctb chaperonin containing TCP1, subunit 2 (beta) Chaperonins 587 1999-02-26 2016-01-06 2021-05-26 10576 ENSG00000166226 OTTHUMG00000169383 uc001svb.2 AF026293 NM_006431 "CCDS55843|CCDS8991" P78371 9819444 MGI:107186 RGD:1359143 605139 470048 HGNC:1615 "ENST00000299300.11|NM_006431.3" HGNC:1615 +HGNC:1616 CCT3 chaperonin containing TCP1 subunit 3 protein-coding gene gene with protein product Approved 1q22 01q22 Cctg TRIC5 chaperonin containing TCP1, subunit 3 (gamma) Chaperonins 587 1999-02-26 2016-01-06 2016-10-05 7203 ENSG00000163468 OTTHUMG00000024061 uc001fol.3 BC008019 NM_005998 "CCDS30888|CCDS1140" P49368 8110840 MGI:104708 RGD:735038 600114 HGNC:1616 "ENST00000295688.8|NM_005998.5" +HGNC:35129 CCT3P1 chaperonin containing TCP1 subunit 3 pseudogene 1 pseudogene pseudogene Approved 8p22 08p22 chaperonin containing TCP1, subunit 3 (gamma) pseudogene 1 2008-09-22 2016-01-06 2020-04-06 646440 ENSG00000253951 OTTHUMG00000163855 NG_022409 PGOHUM00000249580 HGNC:35129 +HGNC:1617 CCT4 chaperonin containing TCP1 subunit 4 protein-coding gene gene with protein product Approved 2p15 02p15 Cctd chaperonin containing TCP1, subunit 4 (delta) Chaperonins 587 1999-02-26 2016-01-06 2016-01-06 10575 ENSG00000115484 OTTHUMG00000152166 uc002sbo.5 NM_001256721 "CCDS33206|CCDS58711" P50991 9819444 MGI:104689 RGD:727937 605142 HGNC:1617 "ENST00000394440.8|NM_006430.4" +HGNC:35151 CCT4P1 chaperonin containing TCP1 subunit 4 pseudogene 1 pseudogene pseudogene Approved 7q34 07q34 chaperonin containing TCP1, subunit 4 (delta) pseudogene 1 2008-09-22 2016-01-06 2016-01-06 650172 ENSG00000242703 OTTHUMG00000157458 NG_016595 PGOHUM00000233016 HGNC:35151 +HGNC:35141 CCT4P2 chaperonin containing TCP1 subunit 4 pseudogene 2 pseudogene pseudogene Approved Xq11.2 Xq11.2 chaperonin containing TCP1, subunit 4 (delta) pseudogene 2 2008-09-22 2016-01-06 2016-10-05 100131638 ENSG00000225569 OTTHUMG00000021713 NG_022664 HGNC:35141 +HGNC:1618 CCT5 chaperonin containing TCP1 subunit 5 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 KIAA0098 chaperonin containing TCP1, subunit 5 (epsilon) Chaperonins 587 1999-09-29 2016-01-06 2021-05-26 22948 ENSG00000150753 OTTHUMG00000131042 uc003jeq.4 D43950 NM_001306153 "CCDS3877|CCDS82988|CCDS82989|CCDS82990|CCDS77996" P48643 MGI:107185 RGD:735161 LRG_361|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_361.xml 610150 119222 HGNC:1618 "ENST00000280326.9|NM_012073.5" HGNC:1618 +HGNC:35135 CCT5P1 chaperonin containing TCP1 subunit 5 pseudogene 1 pseudogene pseudogene Approved 5q22.3 05q22.3 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 1 2008-09-22 2016-01-06 2016-01-06 402226 ENSG00000250444 OTTHUMG00000162916 NG_016575 HGNC:35135 +HGNC:35139 CCT5P2 chaperonin containing TCP1 subunit 5 pseudogene 2 pseudogene pseudogene Approved 13q31.1 13q31.1 chaperonin containing TCP1, subunit 5 (epsilon) pseudogene 2 2008-09-22 2016-01-06 2016-01-06 390415 ENSG00000230584 OTTHUMG00000017126 NG_016574 HGNC:35139 +HGNC:1620 CCT6A chaperonin containing TCP1 subunit 6A protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "TTCP20|TCPZ|Cctz|HTR3|TCP20" CCT6 chaperonin containing TCP1, subunit 6A (zeta 1) "Chaperonins|Small nucleolar RNA protein coding host genes" "587|1835" 1999-02-26 2016-01-06 2016-01-06 908 ENSG00000146731 OTTHUMG00000022842 uc003trl.2 M94083 NM_001762 "CCDS5523|CCDS34640" P40227 "1352881|8034610" MGI:107943 RGD:1304763 104613 HGNC:1620 "ENST00000275603.9|NM_001762.4" +HGNC:1621 CCT6B chaperonin containing TCP1 subunit 6B protein-coding gene gene with protein product Approved 17q12 17q12 "Cctz2|TSA303" chaperonin containing TCP1, subunit 6B (zeta 2) Chaperonins 587 1999-02-26 2016-01-06 2016-01-06 10693 ENSG00000132141 OTTHUMG00000179770 uc002hig.4 D78333 NM_006584 "CCDS54106|CCDS32617|CCDS54105" Q92526 "8812458|9013858" MGI:1329013 RGD:1359453 610730 HGNC:1621 "ENST00000314144.10|NM_006584.4" +HGNC:33094 CCT6P1 chaperonin containing TCP1 subunit 6 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 CCT6AP1 "chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1|chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1" Small nucleolar RNA non-coding host genes 1839 2006-08-07 2008-09-22 2016-01-06 2016-01-06 643253 ENSG00000228409 OTTHUMG00000156733 "BC052238|BC073761" NR_003110 PGOHUM00000233383 HGNC:33094 +HGNC:35150 CCT6P2 chaperonin containing TCP1 subunit 6 pseudogene 2 pseudogene pseudogene Approved 5p15.2 05p15.2 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 2 2008-09-22 2016-01-06 2016-01-06 391739 ENSG00000250526 OTTHUMG00000161827 NG_016581 PGOHUM00000235126 HGNC:35150 +HGNC:35137 CCT6P3 chaperonin containing TCP1 subunit 6 pseudogene 3 pseudogene pseudogene Approved 7q11.21 07q11.21 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3 Small nucleolar RNA non-coding host genes 1839 2008-09-22 2016-01-06 2016-01-06 643180 ENSG00000234585 OTTHUMG00000156630 NR_033416 PGOHUM00000233372 HGNC:35137 +HGNC:35148 CCT6P4 chaperonin containing TCP1 subunit 6 pseudogene 4 pseudogene pseudogene Approved 3q28 03q28 chaperonin containing TCP1, subunit 6 (zeta) pseudogene 4 2008-09-22 2016-01-06 2016-01-06 100130481 ENSG00000232610 OTTHUMG00000156191 NG_016479 PGOHUM00000238300 HGNC:35148 +HGNC:38608 CCT6P5 chaperonin containing TCP1 subunit 6 pseudogene 5 pseudogene pseudogene Approved 11q22.3 11q22.3 CCT6-2P chaperonin containing TCP1, subunit 6 (zeta) pseudogene 5 2010-09-29 2016-01-06 2016-01-06 100463286 NG_023057 PGOHUM00000242475 HGNC:38608 +HGNC:1622 CCT7 chaperonin containing TCP1 subunit 7 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "Ccth|Nip7-1" chaperonin containing TCP1, subunit 7 (eta) Chaperonins 587 1999-02-26 2016-01-06 2016-01-06 10574 ENSG00000135624 OTTHUMG00000152765 uc002siz.4 AF026292 NM_001009570 "CCDS46336|CCDS54367|CCDS54366|CCDS42696" Q99832 9819444 MGI:107184 RGD:1306422 605140 HGNC:1622 "ENST00000258091.10|NM_006429.4" +HGNC:35149 CCT7P1 chaperonin containing TCP1 subunit 7 pseudogene 1 pseudogene pseudogene Approved 6q25.1 06q25.1 chaperonin containing TCP1, subunit 7 (eta) pseudogene 1 2008-09-22 2016-01-06 2016-01-06 442267 ENSG00000217733 OTTHUMG00000015799 NG_013108 PGOHUM00000243814 HGNC:35149 +HGNC:35134 CCT7P2 chaperonin containing TCP1 subunit 7 pseudogene 2 pseudogene pseudogene Approved 5q14.3 05q14.3 chaperonin containing TCP1, subunit 7 (eta) pseudogene 2 2008-09-22 2016-01-06 2020-04-20 100288772 ENSG00000249958 OTTHUMG00000162628 NG_008698 PGOHUM00000235311 HGNC:35134 +HGNC:1623 CCT8 chaperonin containing TCP1 subunit 8 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "Cctq|PRED71" C21orf112 "chromosome 21 open reading frame 112|chaperonin containing TCP1, subunit 8 (theta)" Chaperonins 587 1999-02-26 2016-01-06 2016-01-06 10694 ENSG00000156261 OTTHUMG00000044595 uc002ynb.5 Z37163 NM_001282907 "CCDS68180|CCDS33528|CCDS68181" P50990 7890169 MGI:107183 RGD:1305452 617786 HGNC:1623 "ENST00000286788.9|NM_006585.4" +HGNC:32153 CCT8L1P chaperonin containing TCP1 subunit 8 like 1, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 CCT8L1 "chaperonin containing TCP1, subunit 8 (theta)-like 1|chaperonin containing TCP1, subunit 8 (theta)-like 1, pseudogene" 2007-07-31 2011-09-01 2016-01-06 2016-01-06 155100 ENSG00000020219 OTTHUMG00000157297 NG_012242 A6NM43 MGI:2685289 RGD:1561536 HGNC:32153 +HGNC:15553 CCT8L2 chaperonin containing TCP1 subunit 8 like 2 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 CESK1 chaperonin containing TCP1, subunit 8 (theta)-like 2 2007-07-31 2016-01-06 2016-01-06 150160 ENSG00000198445 OTTHUMG00000141302 uc002zlp.2 AP003553 NM_014406 CCDS13738 Q96SF2 MGI:2685289 RGD:7640698 HGNC:15553 "ENST00000359963.4|NM_014406.5" +HGNC:35144 CCT8P1 chaperonin containing TCP1 subunit 8 pseudogene 1 pseudogene pseudogene Approved 1q21.1 01q21.1 chaperonin containing TCP1, subunit 8 (theta) pseudogene 1 2008-09-22 2016-01-06 2016-01-06 644131 ENSG00000226015 OTTHUMG00000041050 NG_016732 HGNC:35144 +HGNC:21691 CCZ1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "CGI-43|CCZ1A" C7orf28A "chromosome 7 open reading frame 28A|CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)" 2003-07-14 2010-06-29 2015-07-02 2015-09-01 51622 ENSG00000122674 OTTHUMG00000155502 uc003spf.4 AF151801 NM_015622 CCDS34597 P86791 "10810093|20305638" MGI:2141070 HGNC:21691 "ENST00000325974.9|NM_015622.6" +HGNC:21717 CCZ1B CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "DKFZP586I1023|H_NH0577018.2|MGC19819" similar to CGI-43 protein C7orf28B "chromosome 7 open reading frame 28B|CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)|CCZ1 homolog, vacuolar protein trafficking and biogenesis associated B" 2003-07-14 2011-11-24 2015-07-23 2016-10-05 221960 ENSG00000146574 OTTHUMG00000152441 uc003sqx.3 BC010130 NM_198097 CCDS5354 P86790 12477932 MGI:2141070 RGD:1306410 HGNC:21717 "ENST00000316731.13|NM_198097.5" +HGNC:55746 CCZ1P1 CCZ1 pseudogene 1 pseudogene pseudogene Approved 7q21.3 07q21.3 2021-07-20 2021-07-20 110440226 ENSG00000243554 NG_055009 +HGNC:1634 CD1A CD1a molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CD1 "CD1A antigen, a polypeptide|CD1a antigen" "CD molecules|C1-set domain containing" "471|591" 1988-05-11 2006-03-28 2017-07-07 909 ENSG00000158477 OTTHUMG00000017512 uc001frt.4 M28825 NM_001763 CCDS1174 P06126 "2447586|2784820" 188370 CD1a HGNC:1634 "ENST00000289429.6|NM_001763.3" +HGNC:1635 CD1B CD1b molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CD1 "CD1B antigen, b polypeptide|CD1b antigen" "CD molecules|C1-set domain containing" "471|591" 1988-05-11 2006-03-28 2014-11-19 910 ENSG00000158485 OTTHUMG00000017513 uc001frx.4 M28826 NM_001764 CCDS1176 P29016 2447586 188360 CD1b HGNC:1635 "ENST00000368168.4|NM_001764.3" +HGNC:1636 CD1C CD1c molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CD1 "CD1C antigen, c polypeptide|CD1c antigen" "CD molecules|C1-set domain containing" "471|591" 1988-05-11 2006-03-28 2014-11-19 911 ENSG00000158481 OTTHUMG00000017514 uc001fru.4 M28827 NM_001765 CCDS1175 P29017 2447586 188340 CD1c HGNC:1636 "ENST00000368170.8|NM_001765.3" +HGNC:1637 CD1D CD1d molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "CD1D antigen, d polypeptide|CD1d antigen" "CD molecules|C1-set domain containing" "471|591" 1990-06-11 2006-03-28 2015-08-27 912 ENSG00000158473 OTTHUMG00000022436 uc001frr.4 BC027926 NM_001766 CCDS1173 P15813 2463622 "MGI:107674|MGI:107675" RGD:2296 188410 objectId:2997 CD1d HGNC:1637 "ENST00000674085.2|NM_001371762.2" +HGNC:1638 CD1E CD1e molecule protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "CD1E antigen, e polypeptide|CD1e antigen" "CD molecules|C1-set domain containing" "471|591" 1990-06-11 2006-03-28 2014-11-19 913 ENSG00000158488 OTTHUMG00000017515 uc001fse.4 AJ289111 NM_030893 "CCDS53390|CCDS53384|CCDS53385|CCDS53386|CCDS53387|CCDS41417|CCDS53388|CCDS53389|CCDS41418|CCDS41419|CCDS41422|CCDS41420|CCDS41421" P15812 10948205 188411 CD1e HGNC:1638 "ENST00000368167.8|NM_030893.4" +HGNC:1639 CD2 CD2 molecule protein-coding gene gene with protein product Approved 1p13.1 01p13.1 SRBC CD2 antigen (p50), sheep red blood cell receptor "CD molecules|V-set domain containing|C2-set domain containing|Ig-like cell adhesion molecule family" "471|590|592|1410" 1986-01-01 2006-03-28 2016-10-05 914 ENSG00000116824 OTTHUMG00000022750 uc001egu.5 BC033583 NM_001767 CCDS889 P06729 2437578 MGI:88320 RGD:2297 186990 objectId:2600 CD2 HGNC:1639 "ENST00000369478.4|NM_001767.5" +HGNC:14258 CD2AP CD2 associated protein protein-coding gene gene with protein product Approved 6p12.3 06p12.3 CMS 2000-12-14 2016-07-04 2016-10-05 23607 ENSG00000198087 OTTHUMG00000014799 uc003oyw.4 AF146277 NM_012120 CCDS34472 Q9Y5K6 10339567 MGI:1330281 RGD:727803 604241 236656 HGNC:14258 "ENST00000359314.5|NM_012120.3" HGNC:14258 +HGNC:55263 CD2AP-DT CD2AP divergent transcript non-coding RNA RNA, long non-coding Approved 6p12.3 06p12.3 Divergent transcripts 1990 2020-09-27 2020-09-27 118732299 ENSG00000270761 +HGNC:1656 CD2BP2 CD2 cytoplasmic tail binding protein 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "LIN1|Snu40|PPP1R59|U5-52K" protein phosphatase 1, regulatory subunit 59 "CD2 antigen (cytoplasmic tail)-binding protein 2|CD2 (cytoplasmic tail) binding protein 2" "Protein phosphatase 1 regulatory subunits|U5 small nuclear ribonucleoprotein" "694|1503" 1999-06-18 2016-06-21 2017-06-12 10421 ENSG00000169217 OTTHUMG00000132397 uc002dxs.3 AF104222 NM_006110 CCDS10675 O95400 9843987 MGI:1917483 RGD:1311741 604470 HGNC:1656 "ENST00000305596.8|NM_006110.3" +HGNC:53029 CD2BP2-DT CD2BP2 divergent transcript non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Divergent transcripts 1990 2019-06-17 2019-06-17 101928707 ENSG00000260219 OTTHUMG00000176862 XR_001752114 HGNC:53029 +HGNC:1673 CD3D CD3 delta subunit of T-cell receptor complex protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "CD3DELTA|CD3-DELTA" T-cell surface glycoprotein CD3 delta chain T3D "CD3d antigen, delta polypeptide (TiT3 complex)|CD3d molecule, delta (CD3-TCR complex)|CD3d molecule" CD molecules 471 1986-01-01 2022-02-23 2022-02-23 915 ENSG00000167286 OTTHUMG00000166970 uc001pss.2 X01451 NM_000732 "CCDS41724|CCDS8394" P04234 "2468134|12507424" MGI:88331 RGD:2304 "CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency|http://structure.bmc.lu.se/idbase/CD3Dbase/|LRG_37|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_37.xml" 186790 159197 CD3d HGNC:1673 "ENST00000300692.9|NM_000732.6" HGNC:1673 +HGNC:1674 CD3E CD3 epsilon subunit of T-cell receptor complex protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "CD3epsilon|CD3-epsilon" T-cell surface glycoprotein CD3 epsilon chain "CD3e antigen, epsilon polypeptide (TiT3 complex)|CD3e molecule, epsilon (CD3-TCR complex)|CD3e molecule" CD molecules 471 1986-01-01 2022-02-23 2022-02-23 916 ENSG00000198851 OTTHUMG00000166968 uc001psq.5 X03884 NM_000733 CCDS31685 P07766 "3248386|7937778|10384095" MGI:88332 RGD:1309222 "CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency|http://structure.bmc.lu.se/idbase/CD3Ebase/index2.html|LRG_38|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_38.xml" 186830 159200 objectId:2742 CD3e HGNC:1674 "ENST00000361763.9|NM_000733.4" HGNC:1674 +HGNC:1675 CD3G CD3 gamma subunit of T-cell receptor complex protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "CD3-GAMMA|CD3GAMMA" T-cell surface glycoprotein CD3 gamma chain "CD3g antigen, gamma polypeptide (TiT3 complex)|CD3g molecule, gamma (CD3-TCR complex)|CD3g molecule" CD molecules 471 1988-05-11 2022-02-23 2022-02-23 917 ENSG00000160654 OTTHUMG00000166971 uc001psu.3 X60491 NM_000073 CCDS8395 P09693 "2470098|2137107|8636209" MGI:88333 RGD:1307718 "CD3Gbase: Mutation registry for autosomal recessiveCD3gamma immunodeficiency|http://structure.bmc.lu.se/idbase/CD3Gbase/index2.html|LRG_39|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_39.xml" 186740 201284 CD3g HGNC:1675 "ENST00000532917.3|NM_000073.3" HGNC:1675 +HGNC:1678 CD4 CD4 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CD4 antigen (p55)|T-cell surface glycoprotein CD4" "CD molecules|V-set domain containing|C2-set domain containing" "471|590|592" 1986-01-01 2006-03-28 2014-11-18 920 ENSG00000010610 OTTHUMG00000168514 uc001qqv.3 M35160 NM_000616 CCDS8562 P01730 MGI:88335 RGD:2306 186940 objectId:2995 CD4 HGNC:1678 "ENST00000011653.9|NM_000616.5" +HGNC:1685 CD5 CD5 molecule protein-coding gene gene with protein product Approved 11q12.2 11q12.2 T1 LEU1 CD5 antigen (p56-62) "CD molecules|Scavenger receptor cysteine rich domain containing" "471|1404" 1986-01-01 2006-03-28 2016-10-05 921 ENSG00000110448 OTTHUMG00000167825 uc009ynk.4 X04391 NM_014207 CCDS8000 P06127 1711157 MGI:88340 RGD:2309 153340 CD5 HGNC:1685 "ENST00000347785.8|NM_014207.4" +HGNC:1690 CD5L CD5 molecule like protein-coding gene gene with protein product Approved 1q23.1 01q23.1 Spalpha API6 "apoptosis inhibitor 6|CD5 antigen-like (scavenger receptor cysteine rich family)|CD5 molecule-like" Scavenger receptor cysteine rich domain containing 1404 1998-05-11 2015-11-30 2015-11-30 922 ENSG00000073754 OTTHUMG00000022440 uc001frk.5 U82812 NM_005894 CCDS1171 O43866 9045627 MGI:1334419 RGD:1308526 602592 HGNC:1690 "ENST00000368174.5|NM_005894.3" +HGNC:1691 CD6 CD6 molecule protein-coding gene gene with protein product Approved 11q12.2 11q12.2 Tp120 CD6 antigen "CD molecules|Scavenger receptor cysteine rich domain containing" "471|1404" 1997-07-04 2006-03-28 2015-09-11 923 ENSG00000013725 OTTHUMG00000167823 uc001nqq.4 NM_006725 "CCDS7999|CCDS58138|CCDS58137" P30203 9013954 MGI:103566 RGD:2312 186720 objectId:2917 CD6 HGNC:1691 "ENST00000313421.11|NM_006725.5" +HGNC:1695 CD7 CD7 molecule protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "GP40|LEU-9|TP41|Tp40" "p41 protein|T-cell antigen CD7|T-cell leukemia antigen" CD7 antigen (p41) "CD molecules|V-set domain containing" "471|590" 1986-01-01 2006-03-28 2016-10-05 924 ENSG00000173762 OTTHUMG00000178662 uc002kel.2 X06180 NM_006137 CCDS11807 P09564 "1695199|3501369" MGI:88344 RGD:1310015 186820 CD7 HGNC:1695 "ENST00000312648.8|NM_006137.7" +HGNC:1706 CD8A CD8a molecule protein-coding gene gene with protein product Approved 2p11.2 02p11.2 CD8 "CD8 antigen, alpha polypeptide (p32)|T-cell surface glycoprotein CD8 alpha chain" "CD molecules|V-set domain containing" "471|590" 1986-01-01 2006-03-28 2021-04-13 925 ENSG00000153563 OTTHUMG00000130265 uc002srv.4 NM_001768 "CCDS1993|CCDS1992" P01732 1541829 MGI:88346 RGD:2316 "CD8Abase: Mutation registry for CD8 deficiency|http://structure.bmc.lu.se/idbase/CD8Abase/|LRG_44|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_44.xml" 186910 221184 CD8a HGNC:1706 "ENST00000283635.8|NM_001768.7" HGNC:1706 +HGNC:1707 CD8B CD8b molecule protein-coding gene gene with protein product Approved 2p11.2 02p11.2 CD8B1 CD8 antigen, beta polypeptide 1 (p37) "CD molecules|V-set domain containing" "471|590" 1989-04-13 2006-03-09 2006-03-28 2016-10-05 926 ENSG00000172116 OTTHUMG00000130264 uc002srw.4 NM_172099 "CCDS1995|CCDS1997|CCDS42708|CCDS54376|CCDS1994" P10966 1541829 MGI:88347 RGD:2317 186730 CD8b HGNC:1707 "ENST00000390655.12|NM_004931.5" +HGNC:1708 CD8B2 CD8b2 molecule protein-coding gene gene with protein product Approved 2q12.2 02q12.2 CD8BP "CD8 antigen, beta polypeptide 2, pseudogene (p37)|CD8b molecule pseudogene" 1992-07-29 2017-03-30 2017-03-30 2019-03-06 927 ENSG00000254126 OTTHUMG00000153183 NM_001349727 CCDS86870 A6NJW9 1541829 MGI:88347 PGOHUM00000250471 HGNC:1708 "ENST00000643224.2|NM_001349727.2" +HGNC:1709 CD9 CD9 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "BA2|P24|TSPAN29|MRP-1" motility related protein-1 MIC3 CD9 antigen (p24) "CD molecules|Tetraspanins" "471|768" 1986-01-01 2006-03-28 2021-04-13 928 ENSG00000010278 OTTHUMG00000044400 uc058kcc.1 M38690 NM_001330312 "CCDS81654|CCDS8540" P21926 6198179 MGI:88348 RGD:2318 LRG_1189|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1189.xml 143030 CD9 HGNC:1709 "ENST00000009180.10|NM_001769.4" +HGNC:1628 CD14 CD14 molecule protein-coding gene gene with protein product Approved 5q31.3 05q31.3 CD14 antigen "CD molecules|Scavenger receptors" "471|1253" 1988-05-31 2006-03-28 2014-11-18 929 ENSG00000170458 OTTHUMG00000129507 uc021yej.1 NM_000591 CCDS4232 P08571 "2472171|2462937" MGI:88318 RGD:620588 158120 objectId:3126 CD14 HGNC:1628 "ENST00000302014.11|NM_000591.4" +HGNC:1633 CD19 CD19 molecule protein-coding gene gene with protein product Approved 16p11.2 16p11.2 CD19 antigen "CD molecules|Immunoglobulin like domain containing|Minor histocompatibility antigens" "471|594|870" 1991-06-04 2006-03-28 2021-05-26 930 ENSG00000177455 OTTHUMG00000097049 uc002drs.4 NM_001178098 "CCDS10644|CCDS53998" P15391 MGI:88319 RGD:1309086 "CD19base: Mutation registry for CD19 deficiency|http://structure.bmc.lu.se/idbase/CD19base/|LRG_35|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_35.xml" 107265 119235 objectId:2764 CD19 HGNC:1633 "ENST00000538922.8|NM_001770.6" HGNC:1633 +HGNC:1643 CD22 CD22 molecule protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "SIGLEC-2|SIGLEC2" sialic acid binding Ig-like lectin 2 CD22 antigen "CD molecules|C2-set domain containing|Sialic acid binding Ig like lectins|MicroRNA protein coding host genes" "471|592|745|1691" 1991-06-06 2006-03-28 2016-10-05 933 ENSG00000012124 OTTHUMG00000183298 uc010edt.5 X52785 NM_001771 "CCDS62634|CCDS12457|CCDS54248|CCDS54247|CCDS54249" P20273 "8496602|1691828" MGI:88322 RGD:1311610 107266 objectId:2786 CD22 HGNC:1643 "ENST00000085219.10|NM_001771.4" +HGNC:1645 CD24 CD24 molecule protein-coding gene gene with protein product Approved 6q21 06q21 CD24A CD24 antigen (small cell lung carcinoma cluster 4 antigen) CD molecules 471 1994-09-07 2006-03-28 2016-10-25 100133941 ENSG00000272398 OTTHUMG00000188439 uc032xhc.2 NM_013230 "CCDS75499|CCDS78166" P25063 7959762 MGI:88323 RGD:2298 600074 139155 objectId:3170 CD24 HGNC:1645 "ENST00000606017.2|NM_001359084.1" +HGNC:1646 CD24P1 CD24 molecule pseudogene 1 pseudogene pseudogene Approved 1p36.21 01p36.21 CD24L1 "CD24 antigen-like 1|CD24 molecule-like 1" 1994-09-07 2012-04-17 2012-04-17 2016-10-05 935 ENSG00000236500 OTTHUMG00000002361 NG_009856 7959762 HGNC:1646 +HGNC:1647 CD24P2 CD24 molecule pseudogene 2 pseudogene pseudogene Approved 15q21.3 15q21.3 CD24L2 "CD24 antigen-like 2|CD24 molecule-like 2" 1994-09-07 2010-10-11 2010-10-11 2012-04-17 936 ENSG00000261333 OTTHUMG00000176398 NG_009857 7959762 HGNC:1647 +HGNC:1648 CD24P3 CD24 molecule pseudogene 3 pseudogene pseudogene Approved 20q11.21 20q11.21 CD24L3 "CD24 antigen-like 3|CD24 molecule-like 3" 1994-09-07 2010-10-11 2010-10-11 2012-04-17 937 NG_032176 7959762 HGNC:1648 +HGNC:1649 CD24P4 CD24 molecule pseudogene 4 pseudogene pseudogene Approved Yq11.222 Yq11.222 CD24L4 "CD24 antigen-like 4|CD24 molecule-like 4|CD24 molecule-like 4 pseudogene" 1994-09-07 2010-10-11 2010-10-11 2014-11-19 938 ENSG00000185275 OTTHUMG00000036500 NG_006012 7959762 HGNC:1649 +HGNC:11922 CD27 CD27 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "S152|Tp55" TNFRSF7 tumor necrosis factor receptor superfamily, member 7 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1992-06-10 2006-10-27 2006-10-27 2021-04-13 939 ENSG00000139193 OTTHUMG00000168316 uc001qod.4 M63928 NM_001242 CCDS8545 P26842 "2442250|8530100" MGI:88326 RGD:1560499 LRG_357|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_357.xml 186711 356847 objectId:1876 CD27 HGNC:11922 "ENST00000266557.4|NM_001242.5" HGNC:11922 +HGNC:43896 CD27-AS1 CD27 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 CD27 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-04-27 2012-08-15 2012-10-12 678655 ENSG00000215039 OTTHUMG00000168315 uc058kep.1 AK056500 NR_015382 CD27-AS1 HGNC:43896 +HGNC:1653 CD28 CD28 molecule protein-coding gene gene with protein product Approved 2q33.2 02q33.2 T-cell-specific surface glycoprotein CD28 antigen (Tp44) "CD molecules|V-set domain containing|Ig-like cell adhesion molecule family" "471|590|1410" 1988-05-11 2006-03-28 2016-10-05 940 ENSG00000178562 OTTHUMG00000132878 uc002vah.6 J02988 NM_006139 "CCDS2361|CCDS58749" P10747 1355979 MGI:88327 RGD:2299 186760 448537 objectId:2863 CD28 HGNC:1653 "ENST00000324106.9|NM_006139.4" +HGNC:1659 CD33 CD33 molecule protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SIGLEC3|SIGLEC-3|p67|FLJ00391" sialic acid binding Ig-like lectin 3 CD33 antigen (gp67) "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 1986-01-01 2006-03-28 2016-10-05 945 ENSG00000105383 OTTHUMG00000182891 uc002pwa.3 M23197 NM_001772 "CCDS46157|CCDS54299|CCDS33084" P20138 "3139766|9465907" MGI:99440 RGD:1596020 159590 objectId:2601 CD33 HGNC:1659 "ENST00000262262.5|NM_001772.4" +HGNC:1662 CD34 CD34 molecule protein-coding gene gene with protein product Approved 1q32.2 01q32.2 CD34 antigen CD molecules 471 1990-09-10 2006-03-28 2016-10-05 947 ENSG00000174059 OTTHUMG00000036565 uc001hgw.2 M81104 NM_001773 "CCDS31011|CCDS31012" P28906 "1370171|1374051" MGI:88329 RGD:1306863 142230 CD34 HGNC:1662 "ENST00000310833.12|NM_001025109.2" +HGNC:1663 CD36 CD36 molecule protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "SCARB3|GPIV|FAT|GP4|GP3B" "CD36 antigen (collagen type I receptor, thrombospondin receptor)|CD36 molecule (thrombospondin receptor)" "CD molecules|Scavenger receptors" "471|1253" 1993-06-04 2016-01-06 2016-10-05 948 ENSG00000135218 OTTHUMG00000155383 uc003uhc.4 Z32770 NM_001001547 "CCDS78250|CCDS34673|CCDS78249|CCDS78251" P16671 7503937 MGI:107899 RGD:2301 173510 objectId:3104 CD36 HGNC:1663 "ENST00000447544.7|NM_001001548.3" HGNC:1663 +HGNC:1666 CD37 CD37 molecule protein-coding gene gene with protein product Approved 19q13.33 19q13.33 TSPAN26 CD37 antigen "CD molecules|Tetraspanins" "471|768" 1993-06-18 2006-03-28 2016-01-15 951 ENSG00000104894 OTTHUMG00000183183 uc002pnd.4 NM_001040031 "CCDS12760|CCDS46139" P11049 8436422 MGI:88330 RGD:62035 151523 objectId:3010 CD37 HGNC:1666 "ENST00000323906.9|NM_001774.3" +HGNC:1667 CD38 CD38 molecule protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "ADP-ribosyl cyclase 1|NAD(+) nucleosidase" CD38 antigen (p45) CD molecules 471 1986-01-01 2006-03-28 2014-11-18 952 ENSG00000004468 OTTHUMG00000048206 uc003gol.2 D84276 NM_001775 CCDS3417 P28907 "9074508|2319135" MGI:107474 RGD:2303 107270 objectId:2766 CD38 3.2.2.5 HGNC:1667 "ENST00000226279.8|NM_001775.4" +HGNC:11919 CD40 CD40 molecule protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "p50|Bp50" TNFRSF5 "tumor necrosis factor receptor superfamily, member 5|CD40 molecule, TNF receptor superfamily member 5" "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1993-08-27 2005-01-14 2016-01-13 2021-04-13 958 ENSG00000101017 OTTHUMG00000033053 uc002xrg.2 X60592 NM_001250 "CCDS13394|CCDS13393" P25942 "7687385|2998589" MGI:88336 RGD:619830 "CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base)|http://structure.bmc.lu.se/idbase/CD40base/|LRG_40|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_40.xml" 109535 119244 objectId:1874 CD40 HGNC:11919 "ENST00000372285.8|NM_001250.6" +HGNC:11935 CD40LG CD40 ligand protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CD40L|TRAP|gp39|hCD40L|CD154" "CD40 antigen ligand|tumor necrosis factor (ligand) superfamily member 5|T-B cell-activating molecule|TNF-related activation protein|hyper-IgM syndrome" "HIGM1|IMD3|TNFSF5" tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome) "CD molecules|Tumor necrosis factor superfamily" "471|781" 1989-06-30 2005-01-14 2008-08-01 2021-04-13 959 ENSG00000102245 OTTHUMG00000022512 uc004faa.4 X67878 NM_000074 CCDS14659 P29965 "1427881|7678782" MGI:88337 RGD:708418 "CD40Lbase: Mutation registry for X-linked Hyper-IgM syndrome|http://structure.bmc.lu.se/idbase/CD40Lbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CD40LG|LRG_141|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_141.xml" 300386 119249 ligandId:5077 CD154 HGNC:11935 "ENST00000370629.7|NM_000074.3" HGNC:11935 +HGNC:1681 CD44 CD44 molecule (Indian blood group) protein-coding gene gene with protein product Approved 11p13 11p13 "IN|MC56|Pgp1|CD44R|HCELL|CSPG8" "hematopoietic cell E- and L-selectin ligand|chondroitin sulfate proteoglycan 8" "MIC4|MDU2|MDU3" CD44 antigen (homing function and Indian blood group system) "Blood group antigens|CD molecules|Proteoglycans" "454|471|570" 1989-06-30 2006-03-28 2021-04-13 960 ENSG00000026508 OTTHUMG00000044388 uc001mvu.4 M59040 NM_000610 "CCDS7897|CCDS31456|CCDS31458|CCDS31457|CCDS31455|CCDS55754|CCDS55755" P16070 2454887 MGI:88338 RGD:2307 LRG_815|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_815.xml 107269 CD44R HGNC:1681 "ENST00000428726.8|NM_000610.4" +HGNC:40133 CD44-AS1 CD44 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p13 11p13 RP1-68D18.4 Antisense RNAs 1987 2017-02-10 2017-02-10 109729172 ENSG00000255443 OTTHUMG00000166327 NR_174965 28103885 +HGNC:56175 CD44-DT CD44 divergent transcript non-coding RNA RNA, long non-coding Approved 11p13 11p13 2022-01-14 2022-01-14 100507144 ENSG00000255521 NR_120528 +HGNC:6953 CD46 CD46 molecule protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "TRA2.10|MGC26544|TLX" trophoblast-lymphocyte cross-reactive antigen "MIC10|MCP" "antigen identified by monoclonal antibody TRA-2-10|membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)|CD46 antigen, complement regulatory protein|CD46 molecule, complement regulatory protein" "CD molecules|Sushi domain containing|Complement system regulators and receptors" "471|1179|1639" 1988-08-31 2006-02-09 2016-01-06 2022-03-17 4179 ENSG00000117335 OTTHUMG00000036397 uc001hgj.4 BC030594 NM_172361 "CCDS1484|CCDS1479|CCDS31009|CCDS1482|CCDS86048|CCDS1481|CCDS31008|CCDS1485|CCDS1480" P15529 "7929741|24120647" MGI:1203290 RGD:3061 LRG_155|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_155.xml 120920 119259 CD46 HGNC:6953 "ENST00000367042.6|NM_172351.3" HGNC:6953 +HGNC:6959 CD46P1 CD46 molecule pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 "MCPL|CD46P" "membrane cofactor protein-like (CD46-like, trophoblast-lymphocyte cross-reactive antigen-like)|CD46 molecule, complement regulatory protein pseudogene|CD46 molecule, complement regulatory protein pseudogene 1" 1992-06-05 2010-03-02 2016-01-06 2016-10-05 4182 ENSG00000244703 OTTHUMG00000036355 M73721 NG_008252 1740338 PGOHUM00000245188 HGNC:6959 +HGNC:1682 CD47 CD47 molecule protein-coding gene gene with protein product Approved 3q13.12 03q13.12 "IAP|OA3" "antigen identified by monoclonal antibody 1D8|antigenic surface determinant protein OA3|integrin associated protein|Rh-related antigen|leukocyte surface antigen CD47|CD47 glycoprotein" MER6 CD47 antigen (Rh-related antigen, integrin-associated signal transducer) "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1994-12-12 2006-03-28 2016-10-05 961 ENSG00000196776 OTTHUMG00000044216 uc003dwv.2 NM_001777 "CCDS43125|CCDS43126" Q08722 "8294396|2277087" MGI:96617 RGD:2308 601028 objectId:2943 CD47 HGNC:1682 "ENST00000361309.6|NM_001777.4" +HGNC:1683 CD48 CD48 molecule protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "BLAST|mCD48|hCD48|SLAMF2" BCM1 "CD48 antigen (B-cell membrane protein)|CD48 molecule " "CD molecules|V-set domain containing" "471|590" 1986-01-01 2006-03-31 2016-10-05 962 ENSG00000117091 OTTHUMG00000024009 uc001fwn.4 BC016182 NM_001778 "CCDS1208|CCDS72955" P09326 2828034 MGI:88339 RGD:620620 109530 CD48 HGNC:1683 "ENST00000368046.8|NM_001778.4" +HGNC:1804 CD52 CD52 molecule protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "HE5|EDDM5" CDW52 CD52 antigen (CAMPATH-1 antigen) CD molecules 471 1991-12-12 2005-02-07 2006-03-28 2017-03-15 1043 ENSG00000169442 OTTHUMG00000003491 uc001bmc.4 NM_001803 CCDS30647 P31358 "1711975|11420384" MGI:1346088 RGD:620627 114280 objectId:2602 CD52 HGNC:1804 "ENST00000374213.3|NM_001803.3" +HGNC:1686 CD53 CD53 molecule protein-coding gene gene with protein product Approved 1p13.3 01p13.3 TSPAN25 MOX44 CD53 antigen "CD molecules|Tetraspanins" "471|768" 1991-07-16 2006-03-28 2016-10-05 963 ENSG00000143119 OTTHUMG00000048020 uc001dzx.4 BC040693 NM_000560 CCDS829 P19397 8319976 MGI:88341 RGD:2310 151525 CD53 HGNC:1686 "ENST00000271324.6|NM_000560.4" +HGNC:2665 CD55 CD55 molecule (Cromer blood group) protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "CR|TC|CROM" DAF "decay accelerating factor for complement (CD55, Cromer blood group system)|CD55 molecule, decay accelerating factor for complement (Cromer blood group)" "Blood group antigens|CD molecules|Sushi domain containing|Complement system regulators and receptors" "454|471|1179|1639" 2001-06-22 2006-02-23 2016-01-06 2021-04-13 1604 ENSG00000196352 OTTHUMG00000036255 uc001hfq.5 BC001288 NM_000574 "CCDS31006|CCDS73022|CCDS44307|CCDS86046|CCDS86047" P08174 "MGI:104850|MGI:104849" RGD:620651 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|CD55base: Mutation registry for Decay-accelerating factor (CD55) deficiency (previously known as DAFbase)|http://structure.bmc.lu.se/idbase/CD55base/|LRG_127|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_127.xml" 125240 CD55 HGNC:2665 "ENST00000367064.9|NM_000574.5" HGNC:2665 +HGNC:1688 CD58 CD58 molecule protein-coding gene gene with protein product Approved 1p13.1 01p13.1 LFA3 CD58 antigen, (lymphocyte function-associated antigen 3) "CD molecules|Ig-like cell adhesion molecule family|MicroRNA protein coding host genes" "471|1410|1691" 1989-04-06 2006-03-28 2016-10-05 965 ENSG00000116815 OTTHUMG00000022749 uc001egm.4 BC005930 NM_001779 "CCDS888|CCDS44199" P19256 9510189 153420 CD58 HGNC:1688 "ENST00000369489.10|NM_001779.3" +HGNC:1689 CD59 CD59 molecule (CD59 blood group) protein-coding gene gene with protein product Approved 11p13 11p13 "16.3A5|EJ16|EJ30|EL32|G344|p18-20" "MIC11|MIN1|MSK21|MIN2|MIN3" "CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)|CD59 antigen, complement regulatory protein|CD59 molecule, complement regulatory protein|CD59 molecule" "Blood group antigens|CD molecules|LY6/PLAUR domain containing|Complement system regulators and receptors" "454|471|1226|1639" 1989-06-30 2017-03-16 2021-04-13 966 ENSG00000085063 OTTHUMG00000166270 uc001muv.5 NM_203329 CCDS7886 P13987 "7691713|27187193" "MGI:109177|MGI:1888996" RGD:2311 "CD59base: Mutation registry for CD59 deficiency|http://structure.bmc.lu.se/idbase/CD59base/|LRG_41|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_41.xml" 107271 221173 CD59 HGNC:1689 "ENST00000642928.2|NM_000611.6" HGNC:1689 +HGNC:1692 CD63 CD63 molecule protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "ME491|TSPAN30" MLA1 CD63 antigen (melanoma 1 antigen) "CD molecules|Tetraspanins" "471|768" 1988-08-07 2006-03-28 2016-01-15 967 ENSG00000135404 OTTHUMG00000170454 uc031qhx.2 M58485 NM_001257389 "CCDS8890|CCDS58243|CCDS58242" P08962 MGI:99529 RGD:62080 155740 CD63 HGNC:1692 "ENST00000257857.9|NM_001780.6" +HGNC:55455 CD63-AS1 CD63 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.2 12q13.2 Antisense RNAs 1987 2021-01-20 2021-01-20 105369779 ENSG00000258056 XR_944987 +HGNC:1693 CD68 CD68 molecule protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "SCARD1|macrosialin|GP110|DKFZp686M18236|LAMP4" "scavenger receptor class D, member 1|CD68 antigen|macrophage antigen CD68" CD68 antigen "CD molecules|Scavenger receptors|Lysosome associated membrane proteins" "471|1253|1910" 1993-06-11 2006-03-28 2016-10-05 968 ENSG00000129226 OTTHUMG00000108146 uc002ghv.4 S57235 NM_001251 "CCDS58512|CCDS11114" P34810 9790779 MGI:88342 RGD:1305970 153634 CD68 HGNC:1693 "ENST00000250092.11|NM_001251.3" +HGNC:1694 CD69 CD69 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 CLEC2C CD69 antigen (p60, early T-cell activation antigen) "CD molecules|C-type lectin domain containing" "471|1298" 1992-08-06 2006-03-28 2016-10-05 969 ENSG00000110848 OTTHUMG00000168481 uc001qwk.3 Z22576 NM_001781 CCDS8604 Q07108 1612643 MGI:88343 RGD:61318 107273 CD69 HGNC:1694 "ENST00000228434.7|NM_001781.2" +HGNC:11937 CD70 CD70 molecule protein-coding gene gene with protein product Approved 19p13.3 19p13.3 CD27L "CD27LG|TNFSF7" tumor necrosis factor (ligand) superfamily, member 7 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1993-11-08 2006-10-27 2006-10-27 2019-08-20 970 ENSG00000125726 OTTHUMG00000181834 uc002mfi.3 L08096 NM_001252 "CCDS82283|CCDS12170" P32970 "8387892|8120384" MGI:1195273 RGD:1588573 602840 470052 ligandId:5079 CD70 HGNC:11937 "ENST00000245903.4|NM_001252.5" HGNC:11937 +HGNC:1696 CD72 CD72 molecule protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "LYB2|CD72b" CD72 antigen "CD molecules|C-type lectin domain containing" "471|1298" 1991-10-04 2006-03-28 2016-10-05 971 ENSG00000137101 OTTHUMG00000019870 uc064sxd.1 NM_001782 CCDS6581 P21854 "2044654|1711157" MGI:88345 RGD:1309757 107272 CD72 HGNC:1696 "ENST00000259633.9|NM_001782.3" +HGNC:1697 CD74 CD74 molecule protein-coding gene gene with protein product Approved 5q33.1 05q33.1 CLIP "HLA-DR-gamma|Ia-associated invariant chain|gamma chain of class II antigens|MHC HLA-DR gamma chain|class II MHC-associated invariant chain peptide" DHLAG "CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)|CD74 molecule, major histocompatibility complex, class II invariant chain" CD molecules 471 1986-01-01 2016-01-06 2021-09-28 972 ENSG00000019582 OTTHUMG00000163559 uc003lse.4 NM_004355 "CCDS47309|CCDS34276|CCDS47308" P04233 "6324166|3001652" MGI:96534 RGD:2313 CD74 142790 I31.002 objectId:2840 CD74 HGNC:1697 "ENST00000009530.13|NM_001025159.3" +HGNC:1698 CD79A CD79a molecule protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "MB-1|Ig-alpha|MB1|IGAlpha" B-cell antigen receptor complex-associated protein alpha chain IGA "CD79A antigen (immunoglobulin-associated alpha)|CD79a molecule, immunoglobulin-associated alpha" "CD molecules|V-set domain containing" "471|590" 1992-07-31 2015-11-19 2022-03-17 973 ENSG00000105369 OTTHUMG00000182678 uc002orv.3 M80462 NM_001783 "CCDS12589|CCDS46088" P11912 "1538135|10525050" MGI:101774 RGD:6484896 "CD79Abase: Mutation registry for Igα deficiency|http://structure.bmc.lu.se/idbase/CD79Abase/|LRG_42|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_42.xml" CD79A 112205 221180 CD79a HGNC:1698 "ENST00000221972.8|NM_001783.4" HGNC:1698 +HGNC:1699 CD79B CD79b molecule protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "B29|Ig-beta|Igbeta" B-cell antigen receptor complex-associated protein beta chain IGB "CD79B antigen (immunoglobulin-associated beta)|CD79b molecule, immunoglobulin-associated beta" "CD molecules|V-set domain containing" "471|590" 1992-08-04 2015-11-19 2022-03-17 974 ENSG00000007312 OTTHUMG00000172294 uc002jdq.2 L27587 NM_000626 "CCDS42372|CCDS11655|CCDS11656" P40259 9545642 MGI:96431 RGD:620012 "CD79Bbase: Mutation registry for Igβ deficiency|http://structure.bmc.lu.se/idbase/CD79Bbase/|LRG_43|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_43.xml" CD79B 147245 236967 objectId:2852 CD79b HGNC:1699 "ENST00000006750.8|NM_000626.4" HGNC:1699 +HGNC:1700 CD80 CD80 molecule protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "B7.1|B7-1" B-lymphocyte activation antigen B7 "CD28LG|CD28LG1" "CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)|CD80 molecule " "CD molecules|V-set domain containing|C2-set domain containing|B7 family" "471|590|592|1824" 1993-12-14 2006-03-31 2016-10-05 941 ENSG00000121594 OTTHUMG00000159419 uc003ecq.4 NM_005191 CCDS2989 P33681 1370389 MGI:101775 RGD:2314 112203 objectId:2744 CD80 HGNC:1700 "ENST00000264246.8|NM_005191.4" +HGNC:1701 CD81 CD81 molecule protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "TAPA-1|TSPAN28" TAPA1 CD81 antigen (target of antiproliferative antibody 1) "CD molecules|Tetraspanins" "471|768" 1992-10-21 2006-03-28 2021-04-13 975 ENSG00000110651 OTTHUMG00000009892 uc001lwf.2 NM_004356 "CCDS7734|CCDS73240" P60033 1650385 MGI:1096398 RGD:2315 LRG_142|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_142.xml 186845 235199 CD81 HGNC:1701 "ENST00000263645.10|NM_004356.4" HGNC:1701 +HGNC:49384 CD81-AS1 CD81 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Antisense RNAs 1987 2013-10-18 2013-10-22 101927682 ENSG00000238184 OTTHUMG00000009760 BC042822 NR_108080 CD81-AS1 HGNC:49384 +HGNC:6210 CD82 CD82 molecule protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "R2|IA4|TSPAN27" "suppression of tumorigenicity 6|R2 leukocyte antigen" "ST6|KAI1" "kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))|CD82 antigen" "CD molecules|Tetraspanins" "471|768" 1994-01-10 2005-03-03 2006-03-28 2017-07-28 3732 ENSG00000085117 OTTHUMG00000166472 uc001myc.4 U20770 NM_002231 "CCDS7909|CCDS31469" P27701 MGI:104651 RGD:69070 600623 CD82 HGNC:6210 "ENST00000227155.9|NM_002231.4" +HGNC:1703 CD83 CD83 molecule protein-coding gene gene with protein product Approved 6p23 06p23 "HB15|BL11" "CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)|CD83 molecule " "CD molecules|V-set domain containing" "471|590" 1999-03-26 2006-03-31 2014-11-19 9308 ENSG00000112149 OTTHUMG00000014283 uc003nbi.4 Z11697 NM_001040280 "CCDS75403|CCDS4532" Q01151 "1378080|8422464" MGI:1328316 RGD:1309677 604534 CD83 HGNC:1703 "ENST00000379153.4|NM_004233.4" +HGNC:13946 CD83P1 CD83 molecule pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "HB15p|b34I8.3" CD83P "CD83 antigen (activated B lymphocytes, immunoglobulin superfamily) pseudogene|CD83 molecule pseudogene" 2003-11-26 2010-03-02 2010-03-02 2020-04-20 100128240 ENSG00000219738 OTTHUMG00000014480 NG_022297 PGOHUM00000301280 HGNC:13946 +HGNC:1704 CD84 CD84 molecule protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "SLAMF5|hCD84|mCD84" "CD84 antigen (leukocyte antigen)|CD84 molecule " "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1999-01-18 2006-03-31 2018-03-26 8832 ENSG00000066294 OTTHUMG00000022788 uc001fwf.5 AF054816 NM_003874 "CCDS81388|CCDS53396|CCDS53395|CCDS1206|CCDS53397" Q9UIB8 "9310491|29434592" MGI:1336885 RGD:1564553 604513 CD84 HGNC:1704 "ENST00000368054.8|NM_003874.4" +HGNC:55159 CD84P1 CD84 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2020-07-17 2020-07-17 118568807 ENSG00000224978 +HGNC:1705 CD86 CD86 molecule protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "B7.2|B7-2" B-lymphocyte antigen B7-2 CD28LG2 CD86 antigen (CD28 antigen ligand 2, B7-2 antigen) "CD molecules|V-set domain containing|B7 family" "471|590|1824" 1994-12-07 2006-03-28 2016-10-05 942 ENSG00000114013 OTTHUMG00000159482 uc003eet.4 NM_006889 "CCDS74991|CCDS3009|CCDS43138|CCDS56273|CCDS56272" P42081 7513726 MGI:101773 RGD:628714 601020 objectId:2745 CD86 HGNC:1705 "ENST00000330540.7|NM_175862.5" +HGNC:15855 CD93 CD93 molecule protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "C1qRP|C1qR(P)|dJ737E23.1|CDw93|ECSM3" "MXRA4|C1QR1" "matrix-remodelling associated 4|complement component 1, q subcomponent, receptor 1|CD93 antigen" "CD molecules|C-type lectin domain containing|Complement system regulators and receptors" "471|1298|1639" 2001-12-05 2006-02-22 2006-03-28 2015-08-24 22918 ENSG00000125810 OTTHUMG00000032058 uc002wsv.4 U94333 NM_012072 CCDS13149 Q9NPY3 "9047234|10648005" MGI:106664 RGD:621251 120577 CD93 HGNC:15855 "ENST00000246006.5|NM_012072.4" +HGNC:16892 CD96 CD96 molecule protein-coding gene gene with protein product Approved 3q13.13-q13.2 03q13.13-q13.2 TACTILE CD96 antigen "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 2003-01-22 2006-03-28 2018-02-13 10225 ENSG00000153283 OTTHUMG00000159275 uc003dxw.4 M88282 NM_001318889 "CCDS2958|CCDS82817|CCDS2959" P40200 1313846 MGI:1934368 RGD:1565249 606037 138499 CD96 HGNC:16892 "ENST00000352690.9|NM_005816.5" HGNC:16892 +HGNC:7082 CD99 CD99 molecule (Xg blood group) protein-coding gene gene with protein product Approved Xp22.32 and Yp11.3 Xp22.32 and Yp11.3 MIC2 "antigen identified by monoclonal antibodies 12E7, F21 and O13|CD99 antigen|CD99 molecule" "Blood group antigens|CD molecules|Pseudoautosomal region 1" "454|471|715" 2001-06-22 2003-02-14 2017-03-16 2021-04-13 4267 ENSG00000002586 OTTHUMG00000021073 uc004fpz.4 M16279 NM_001122898 "CCDS83452|CCDS14119|CCDS75947|CCDS48071" P14209 22356523 MGI:1913728 RGD:1594332 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CD99|LRG_1023|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1023.xml" "313470|450000" CD99 HGNC:7082 "ENST00000381192.10|NM_002414.5" +HGNC:18237 CD99L2 CD99 molecule like 2 protein-coding gene gene with protein product Approved Xq28 Xq28 CD99B MIC2L1 "MIC2 like 1|CD99 antigen-like 2|CD99 molecule-like 2" 2002-02-28 2003-02-14 2015-11-30 2020-04-02 83692 ENSG00000102181 OTTHUMG00000024247 uc004fem.4 BC030536 NM_031462 "CCDS76044|CCDS14698|CCDS14697|CCDS55527|CCDS35427" Q8TCZ2 MGI:2177151 RGD:620896 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CD99L2 300846 HGNC:18237 "ENST00000370377.8|NM_031462.4" +HGNC:7083 CD99P1 CD99 molecule pseudogene 1 pseudogene pseudogene Approved Xp22.33 and Yp11.31 Xp22.33 and Yp11.31 "MIC2R|NCRNA00103|CXYorf12|CD99L1" "MIC2-related|CD99 antigen-like 1|CD99 molecule-like 1|non-protein coding RNA 103|chromosome X and Y open reading frame 12|CD99 molecule-like 1, pseudogene" Pseudoautosomal region 1 715 1995-04-26 2010-10-11 2010-10-11 2020-04-20 401577 ENSG00000223773 OTTHUMG00000021071 NR_033380 "7833914|26269497" HGNC:7083 +HGNC:5949 CD101 CD101 molecule protein-coding gene gene with protein product Approved 1p13.1 01p13.1 V7 IGSF2 immunoglobulin superfamily, member 2 "CD molecules|V-set domain containing|I-set domain containing" "471|590|593" 1998-12-03 2009-10-27 2009-10-27 2016-10-05 9398 ENSG00000134256 OTTHUMG00000012029 uc010oxc.3 Z33642 NM_004258 CCDS891 Q93033 7722300 MGI:2685862 RGD:1311453 604516 CD101 HGNC:5949 "ENST00000682167.1|NM_001256106.3" +HGNC:55665 CD101-AS1 CD101 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.1 01p13.1 Antisense RNAs 1987 2021-06-30 2021-06-30 101929099 ENSG00000236137 NR_110786 +HGNC:21685 CD109 CD109 molecule protein-coding gene gene with protein product Approved 6q13 06q13 "FLJ38569|DKFZp762L1111|CPAMD7" CD109 antigen (Gov platelet alloantigens) "CD molecules|C3 and PZP like, alpha-2-macroglobulin domain containing" "471|1234" 2003-07-04 2006-03-28 2021-04-13 135228 ENSG00000156535 OTTHUMG00000015040 uc003php.4 AF410459 NM_133493 "CCDS55039|CCDS55038|CCDS4982" Q6YHK3 "11861284|11861285" MGI:2445221 RGD:1311287 LRG_1002|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1002.xml 608859 328918 I39.006 CD109 HGNC:21685 "ENST00000287097.6|NM_133493.5" +HGNC:55765 CD109-AS1 CD109 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 Antisense RNAs 1987 2021-07-22 2021-07-22 101928489 ENSG00000231652 NR_110889 +HGNC:1630 CD151 CD151 molecule (Raph blood group) protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "SFA-1|PETA-3|TSPAN24|RAPH" "CD151 antigen|CD151 antigen (Raph blood group)" "Blood group antigens|CD molecules|Tetraspanins" "454|471|768" 1997-04-10 2006-03-28 2021-04-13 977 ENSG00000177697 OTTHUMG00000133311 uc001lrz.4 "AL161965|BC013302|D29963" NM_004357 CCDS7719 P48509 9070943 MGI:1096360 RGD:621290 LRG_817|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_817.xml 602243 304247 CD151 HGNC:1630 "ENST00000397420.9|NM_004357.5" HGNC:1630 +HGNC:17013 CD160 CD160 molecule protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "BY55|NK1|NK28" CD160 antigen "CD molecules|Immunoglobulin like domain containing" "471|594" 2003-10-02 2006-03-28 2016-10-05 11126 ENSG00000117281 OTTHUMG00000013749 uc001eol.3 AF060981 NM_007053 CCDS72861 O95971 "9743336|9973372" MGI:1860383 RGD:1563598 604463 CD160 HGNC:17013 "ENST00000369288.7|NM_007053.4" +HGNC:1631 CD163 CD163 molecule protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "M130|MM130|SCARI1" CD163 antigen "CD molecules|Scavenger receptors|Scavenger receptor cysteine rich domain containing" "471|1253|1404" 2000-01-18 2006-03-28 2016-10-05 9332 ENSG00000177575 OTTHUMG00000168353 uc001qsz.4 Z22968 "NM_004244|NM_203416" "CCDS8578|CCDS53742" Q86VB7 "10403791|8370408" MGI:2135946 RGD:1310382 605545 CD163 HGNC:1631 "ENST00000432237.3|NM_203416.4" +HGNC:30375 CD163L1 CD163 molecule like 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "M160|CD163B|SCARI2|WC1" "CD163 antigen-like 1|CD163 molecule-like 1" "Scavenger receptors|Scavenger receptor cysteine rich domain containing" "1253|1404" 2005-12-15 2015-11-30 2020-01-06 283316 ENSG00000177675 OTTHUMG00000168325 uc001qsy.4 AF264014 NM_174941 "CCDS8577|CCDS73434" Q9NR16 "11124526|11086079" 606079 HGNC:30375 "ENST00000313599.8|NM_174941.6" HGNC:30375 +HGNC:1632 CD164 CD164 molecule protein-coding gene gene with protein product Approved 6q21 06q21 "MUC-24|MGC-24|DFNA66" deafness, autosomal dominant 66 "CD164 antigen, sialomucin|CD164 molecule, sialomucin" CD molecules 471 2000-06-08 2016-01-06 2021-04-13 8763 ENSG00000135535 OTTHUMG00000015339 uc003ptd.4 AF106518 NM_006016 "CCDS47462|CCDS5073|CCDS47465|CCDS87430|CCDS47464|CCDS47463" Q04900 "9680353|9763543|26197441" MGI:1859568 RGD:70942 LRG_1419|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1419.xml 603356 459308 CD164 HGNC:1632 "ENST00000310786.10|NM_006016.6" HGNC:1632 +HGNC:32043 CD164L2 CD164 molecule like 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CD164 sialomucin-like 2 2005-07-08 2016-01-06 2016-01-06 388611 ENSG00000174950 OTTHUMG00000003395 uc031tuv.2 AY358761 NM_207397 "CCDS302|CCDS81287" Q6UWJ8 MGI:1916905 RGD:2323068 HGNC:32043 "ENST00000374030.3|NM_001330448.1" +HGNC:30072 CD177 CD177 molecule protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "PRV1|HNA2A|NB1" polycythemia rubra vera 1 CD177 antigen "CD molecules|LY6/PLAUR domain containing" "471|1226" 2005-08-12 2006-03-28 2015-08-27 57126 ENSG00000204936 OTTHUMG00000185320 uc032hyu.2 AF146747 NM_020406 CCDS62700 Q8N6Q3 "10753836|5552408" MGI:1916141 RGD:1562941 162860 CD177 HGNC:30072 "ENST00000618265.5|NM_020406.4" +HGNC:34508 CD177P1 CD177 molecule pseudogene 1 pseudogene pseudogene Approved 19q13.31 19q13.31 CD177P CD177 molecule pseudogene 2008-08-06 2010-03-02 2010-03-02 2016-03-24 653579 ENSG00000204933 OTTHUMG00000185322 NG_005616 PGOHUM00000267724 HGNC:34508 +HGNC:6726 CD180 CD180 molecule protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "RP105|Ly78" LY64 "lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD|CD180 antigen" CD molecules 471 1996-05-07 2005-06-07 2006-03-28 2016-10-05 4064 ENSG00000134061 OTTHUMG00000131229 uc003juy.3 D83597 NM_005582 CCDS3992 Q99467 "9763566|8975706" MGI:1194924 RGD:1308170 602226 CD180 HGNC:6726 "ENST00000256447.5|NM_005582.3" +HGNC:7203 CD200 CD200 molecule protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "MRC|OX-2" "MOX1|MOX2" "antigen identified by monoclonal antibody MRC OX-2|CD200 antigen" "CD molecules|Immunoglobulin like domain containing" "471|594" 2001-06-22 2004-09-01 2006-03-28 2015-08-27 4345 ENSG00000091972 OTTHUMG00000159248 uc003dyx.4 NM_001004196 "CCDS82819|CCDS33818|CCDS2965" P41217 MGI:1196990 RGD:3104 155970 CD200 HGNC:7203 "ENST00000315711.12|NM_005944.7" +HGNC:24235 CD200R1 CD200 receptor 1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "OX2R|HCRTR2|CD200R" MOX2R MOX2 receptor C2-set domain containing 592 2004-07-12 2004-09-01 2004-08-31 2016-10-05 131450 ENSG00000163606 OTTHUMG00000159298 uc003dzj.2 AK126349 NM_138806 "CCDS54623|CCDS2970|CCDS2969|CCDS46889" Q8TD46 "10981966|11133863" "MGI:1889024|MGI:3042847|MGI:1921853|MGI:3036289" RGD:61837 607546 HGNC:24235 "ENST00000308611.8|NM_138806.4" +HGNC:24665 CD200R1L CD200 receptor 1 like protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "CD200RLa|CD200R2" CD200 receptor 2 CD200 receptor 1-like C2-set domain containing 592 2008-10-08 2015-11-11 2015-11-11 344807 ENSG00000206531 OTTHUMG00000159283 uc003dzi.1 AY284976 NM_001008784 "CCDS43131|CCDS56267" Q6Q8B3 "MGI:1889024|MGI:3042847|MGI:1921853|MGI:3036289" RGD:1563387 HGNC:24665 "ENST00000488794.6|NM_001199215.3" +HGNC:54071 CD200R1L-AS1 CD200R1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 Antisense RNAs 1987 2018-09-27 2018-09-27 100129297 ENSG00000242770 NR_149026 HGNC:54071 +HGNC:17935 CD207 CD207 molecule protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "Langerin|CLEC4K" "CD207 antigen, langerin|CD207 molecule, langerin" "CD molecules|Scavenger receptors|C-type lectin domain containing" "471|1253|1298" 2003-10-02 2016-01-06 2016-10-05 50489 ENSG00000116031 OTTHUMG00000153176 uc002shg.4 AJ242859 NM_015717 CCDS74520 Q9UJ71 "10661407|9847074" MGI:2180021 RGD:1565913 604862 CD207 HGNC:17935 "ENST00000410009.5|NM_015717.5" HGNC:17935 +HGNC:1641 CD209 CD209 molecule protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "DC-SIGN|hDC-SIGN|CDSIGN|DC-SIGN1|CLEC4L" CD209 antigen "CD molecules|Scavenger receptors|C-type lectin domain containing" "471|1253|1298" 2000-07-19 2006-03-28 2021-04-26 30835 ENSG00000090659 OTTHUMG00000182530 uc002mht.3 M98457 NM_021155 "CCDS12186|CCDS45952|CCDS45951|CCDS59345|CCDS45950|CCDS59344|CCDS45949" Q9NNX6 1518869 "MGI:1916415|MGI:2157942|MGI:2157945|MGI:2157947|MGI:2157948" RGD:1561104 604672 objectId:2930 CD209 HGNC:1641 "ENST00000315599.12|NM_021155.4" +HGNC:16961 CD226 CD226 molecule protein-coding gene gene with protein product Approved 18q22.2 18q22.2 "DNAM-1|DNAM1|PTA1|TLiSA1" CD226 antigen "CD molecules|V-set domain containing" "471|590" 2003-10-02 2006-03-28 2016-10-05 10666 ENSG00000150637 OTTHUMG00000132809 uc002lkm.6 U56102 NM_006566 "CCDS77197|CCDS11997" Q15762 8673704 MGI:3039602 RGD:1311513 605397 CD226 HGNC:16961 "ENST00000582621.6|NM_001303618.2" +HGNC:18171 CD244 CD244 molecule protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "2B4|NAIL|NKR2B4|Nmrk|SLAMF4" "natural killer cell receptor 2B4|CD244 natural killer cell receptor 2B4|CD244 molecule, natural killer cell receptor 2B4" "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 2003-10-23 2016-01-06 2016-10-05 51744 ENSG00000122223 OTTHUMG00000028606 uc001fxa.4 AF105261 NM_016382 "CCDS53399|CCDS1210|CCDS53398" Q9BZW8 "3772297|10458320" MGI:109294 RGD:68400 605554 470050 CD244 HGNC:18171 "ENST00000368034.9|NM_016382.4" +HGNC:1677 CD247 CD247 molecule protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "CD3H|CD3Q" T-cell surface glycoprotein CD3 zeta chain CD3Z "CD3z antigen, zeta polypeptide (TiT3 complex)|CD247 antigen" CD molecules 471 1989-04-06 2006-03-09 2006-03-28 2021-04-13 919 ENSG00000198821 OTTHUMG00000034593 uc001gei.5 BC025703 NM_198053 "CCDS1261|CCDS1260" P20963 2974162 MGI:88334 RGD:2305 "CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency|http://structure.bmc.lu.se/idbase/CD247base/|LRG_36|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_36.xml" 186780 226144 objectId:3142 CD247 HGNC:1677 "ENST00000362089.10|NM_198053.3" HGNC:1677 +HGNC:18219 CD248 CD248 molecule protein-coding gene gene with protein product Approved 11q13.2 11q13.2 TEM1 "endosialin|tumor endothelial marker 1" CD164L1 "CD164 sialomucin-like 1|CD248 antigen, endosialin|CD248 molecule, endosialin" "CD molecules|C-type lectin domain containing" "471|1298" 2003-08-27 2005-02-11 2016-01-06 2016-10-05 57124 ENSG00000174807 OTTHUMG00000167073 uc001ohm.1 AF279142 NM_020404 CCDS8134 Q9HCU0 "10947988|11084048" MGI:1917695 RGD:1310404 606064 CD248 HGNC:18219 "ENST00000311330.4|NM_020404.3" +HGNC:17635 CD274 CD274 molecule protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "B7-H|B7H1|PD-L1|PDL1|B7-H1" B7 homolog 1 PDCD1LG1 "programmed cell death 1 ligand 1|CD274 antigen" "CD molecules|Receptor ligands|V-set domain containing|C2-set domain containing|B7 family" "471|542|590|592|1824" 2003-11-13 2005-02-25 2006-03-28 2014-11-19 29126 ENSG00000120217 OTTHUMG00000019503 uc003zje.4 AF177937 NM_014143 "CCDS59118|CCDS6464" Q9NZQ7 "11015443|10581077" MGI:1926446 RGD:1566211 CD274 605402 ligandId:9606 CD274 HGNC:17635 "ENST00000381577.4|NM_014143.4" HGNC:17635 +HGNC:19137 CD276 CD276 molecule protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "B7-H3|B7H3|B7RP-2" CD276 antigen "CD molecules|V-set domain containing|C2-set domain containing|B7 family" "471|590|592|1824" 2005-03-04 2006-03-28 2016-10-05 80381 ENSG00000103855 OTTHUMG00000137585 uc002avv.2 AF302102 NM_025240 "CCDS10251|CCDS32288|CCDS86475" Q5ZPR3 "11224528|12055244" MGI:2183926 RGD:727815 605715 objectId:2938 CD276 HGNC:19137 "ENST00000318443.10|NM_001024736.2" +HGNC:19319 CD300A CD300a molecule protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "Irp60|CMRF35H|CMRF-35-H9|IRC1|IRC2|IGSF12" CD300a antigen "CD molecules|V-set domain containing" "471|590" 2005-02-08 2006-03-28 2016-10-05 11314 ENSG00000167851 OTTHUMG00000067612 uc002jkv.5 BC032352 NM_007261 "CCDS82197|CCDS32720|CCDS58590|CCDS82196" Q9UGN4 "9701027|10746781" MGI:2443411 RGD:1583719 606790 objectId:2918 CD300a HGNC:19319 "ENST00000360141.8|NM_007261.4" +HGNC:19320 CD300C CD300c molecule protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "CMRF35|LIR|CMRF-35A|CMRF35A|IGSF16" CD300c antigen "CD molecules|V-set domain containing" "471|590" 2005-02-08 2006-03-28 2016-10-05 10871 ENSG00000167850 OTTHUMG00000067608 uc002jky.3 BC022279 NM_006678 CCDS11701 Q08708 "1349532|10746781" "MGI:2153249|MGI:3032626" 606786 CD300c HGNC:19320 "ENST00000330793.2|NM_006678.5" +HGNC:28874 CD300E CD300e molecule protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "IREM2|CLM2" CD300LE "CD300 antigen like family member E|CD300e antigen" "CD molecules|V-set domain containing" "471|590" 2005-05-17 2006-02-22 2006-03-28 2015-09-11 342510 ENSG00000186407 OTTHUMG00000067605 uc002jlb.3 BX648376 NM_181449 CCDS11702 Q496F6 "15549731|15557162" MGI:2387602 RGD:1585137 609801 CD300e HGNC:28874 "ENST00000392619.2|NM_181449.3" +HGNC:52292 CD300H CD300H molecule (gene/pseudogene) protein-coding gene gene with protein product Approved 17q25.1 17q25.1 2018-04-30 2018-04-30 100130520 ENSG00000284690 OTTHUMG00000067607 NM_001324073 "CCDS86636|CCDS86635" A0A0K2S4Q6 26221034 616560 HGNC:52292 +HGNC:30811 CD300LB CD300 molecule like family member b protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "TREM5|CLM7" triggering receptor expressed on myeloid cells 5 "CD300 antigen like family member B|CD300 molecule-like family member b" V-set domain containing 590 2005-05-17 2015-11-30 2016-04-25 124599 ENSG00000178789 OTTHUMG00000067606 uc002jkx.4 AF427618 NM_174892 CCDS11700 A8K4G0 12975309 MGI:2685099 RGD:1583718 610705 HGNC:30811 "ENST00000392621.6|NM_174892.4" +HGNC:16848 CD300LD CD300 molecule like family member d protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "CMRF35A4|CD300D" CD300 molecule-like family member d V-set domain containing 590 2008-02-19 2015-11-30 2015-11-30 100131439 ENSG00000204345 OTTHUMG00000067614 uc002jkz.3 NM_001115152 CCDS42379 Q6UXZ3 22291008 "MGI:2442358|MGI:2687214|MGI:3702658|MGI:3702661" RGD:2319739 616301 HGNC:16848 "ENST00000375352.1|NM_001115152.2" +HGNC:26480 CD300LD-AS1 CD300LD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 FLJ31882 C17orf77 "chromosome 17 open reading frame 77|chromosome 17 putative open reading frame 77" Antisense RNAs 1987 2006-01-16 2021-03-05 2021-03-05 2021-03-05 146723 ENSG00000182352 OTTHUMG00000067611 uc002jla.2 NR_171003 Q96MU5 HGNC:26480 +HGNC:29883 CD300LF CD300 molecule like family member f protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "IREM1|NKIR|IGSF13|CD300f|CLM1" "CD300 antigen like family member F|CD300 molecule-like family member f" V-set domain containing 590 2005-05-17 2015-11-30 2016-10-05 146722 ENSG00000186074 OTTHUMG00000067609 uc002jlg.5 BC028199 NM_139018 "CCDS74150|CCDS74152|CCDS74151|CCDS74149|CCDS74148|CCDS11704" Q8TDQ1 12975309 MGI:2442359 RGD:1309733 609807 HGNC:29883 "ENST00000326165.11|NM_139018.5" +HGNC:30455 CD300LG CD300 molecule like family member g protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "Trem4|CLM9" nepmucin "CD300 antigen like family member G|CD300 molecule-like family member g" V-set domain containing 590 2005-05-17 2015-11-30 2018-04-30 146894 ENSG00000161649 OTTHUMG00000181796 uc002iem.4 BC025395 NM_145273 "CCDS54131|CCDS54133|CCDS54132|CCDS11470" Q6UXG3 "16876123|16754720" MGI:1289168 RGD:1584376 610520 HGNC:30455 "ENST00000317310.5|NM_145273.4" +HGNC:30843 CD302 CD302 molecule protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "DCL-1|KIAA0022|BIMLEC|CLEC13A" C-type lectin domain family 13, member A CD302 antigen "CD molecules|C-type lectin domain containing" "471|1298" 2005-02-11 2006-03-28 2014-11-18 9936 ENSG00000241399 OTTHUMG00000154080 uc002uba.4 AY314007 NM_014880 "CCDS33308|CCDS74595|CCDS56139" Q8IX05 "7584026|7584028" MGI:1913455 RGD:1307606 612246 CD302 HGNC:30843 "ENST00000259053.6|NM_014880.5" +HGNC:16692 CD320 CD320 molecule protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "8D6|8D6A" 8D6 antigen CD320 antigen CD molecules 471 2005-02-09 2006-03-28 2016-01-15 51293 ENSG00000167775 OTTHUMG00000182457 uc002mjj.3 AF161254 NM_016579 "CCDS54210|CCDS12198" Q9NPF0 10727470 MGI:1860083 RGD:1305860 606475 280190 CD320 HGNC:16692 "ENST00000301458.10|NM_016579.4" HGNC:16692 +HGNC:1712 CDA cytidine deaminase protein-coding gene gene with protein product Approved 1p36.12 01p36.12 CDD 1993-06-17 2016-10-05 978 ENSG00000158825 OTTHUMG00000002845 uc001bdk.4 BC054036 NM_001785 CCDS210 P32320 "8422236|9878810" MGI:1919519 RGD:1311101 123920 objectId:3133 3.5.4.5 HGNC:1712 "ENST00000375071.4|NM_001785.3" +HGNC:20299 CDADC1 cytidine and dCMP deaminase domain containing 1 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 NYD-SP15 2003-11-21 2016-10-05 81602 ENSG00000102543 OTTHUMG00000016913 uc001vcu.4 AY027525 NM_030911 CCDS9415 Q9BWV3 MGI:1919141 RGD:1311845 618997 HGNC:20299 "ENST00000251108.10|NM_030911.4" +HGNC:1713 CDAN1 codanin 1 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 "CDA-I|CDAI" congenital dyserythropoietic anemia, type I 1998-04-07 2012-04-25 2021-05-26 146059 ENSG00000140326 OTTHUMG00000175801 uc001zql.4 AF525398 NM_138477 CCDS32209 Q8IWY9 "8634422|12434312" MGI:1916218 RGD:1306771 LRG_1164|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1164.xml 607465 119266 HGNC:1713 "ENST00000356231.4|NM_138477.4" HGNC:1713 +HGNC:1743 CDC5L cell division cycle 5 like protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "PCDC5RP|hCDC5|CEF1|CDC5" "CDC5 (cell division cycle 5, S. pombe, homolog)-like|CDC5 cell division cycle 5-like (S. pombe)|cell division cycle 5-like" "Myb/SANT domain containing|NineTeen complex|Spliceosomal C complex|MicroRNA protein coding host genes" "532|1361|1510|1691" 1997-08-28 2015-11-18 2015-11-18 988 ENSG00000096401 OTTHUMG00000014767 uc003oxl.4 D85423 NM_001253 CCDS4912 Q99459 "9598309|9038199" MGI:1918952 RGD:70892 602868 HGNC:1743 "ENST00000371477.4|NM_001253.4" +HGNC:1744 CDC6 cell division cycle 6 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 CDC18L "CDC6 (cell division cycle 6, S. cerevisiae) homolog|CDC6 cell division cycle 6 homolog (S. cerevisiae)|cell division cycle 6 homolog (S. cerevisiae)" 1999-08-06 2013-01-17 2021-05-26 990 ENSG00000094804 OTTHUMG00000133324 uc002huj.2 U77949 NM_001254 CCDS11365 Q99741 "8990175|9566895" MGI:1345150 RGD:1309157 LRG_1257|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1257.xml 602627 260345 HGNC:1744 "ENST00000209728.9|NM_001254.4" HGNC:1744 +HGNC:1745 CDC7 cell division cycle 7 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "Hsk1|huCdc7|HsCdc7" CDC7L1 "CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1|CDC7 cell division cycle 7 (S. cerevisiae)|cell division cycle 7 (S. cerevisiae)|cell division cycle 7 homolog (S. cerevisiae)" 1998-09-01 2003-07-23 2013-01-17 2016-10-05 8317 ENSG00000097046 OTTHUMG00000047810 uc001doe.4 AF015592 NM_003503 CCDS734 O00311 "9405610|9250678" MGI:1309511 RGD:1308351 603311 objectId:1960 HGNC:1745 "ENST00000234626.11|NM_003503.4" +HGNC:1718 CDC14A cell division cycle 14A protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "Cdc14A1|Cdc14A2|cdc14|DFNB105" DFNB32 "CDC10 (cell division cycle 10, S. cerevisiae, homolog)|CDC14 cell division cycle 14 homolog A (S. cerevisiae)|deafness, autosomal recessive 32" CDC14 phosphatases 900 1998-12-18 2013-01-17 2021-05-26 8556 ENSG00000079335 OTTHUMG00000010987 uc001dtf.3 AF000367 NM_033312 "CCDS771|CCDS770|CCDS769|CCDS81353|CCDS86000" Q9UNH5 "9367992|10409437|27259055|29293958" MGI:2442676 RGD:1304649 LRG_1418|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1418.xml 603504 459321 HGNC:1718 "ENST00000336454.5|NM_003672.4" HGNC:1718 +HGNC:1719 CDC14B cell division cycle 14B protein-coding gene gene with protein product Approved 9q22.32-q22.33 09q22.32-q22.33 "Cdc14B1|Cdc14B2|CDC14B3|hCDC14B" "CDC14 (cell division cycle 14, S. cerevisiae) homolog B|CDC14 cell division cycle 14 homolog B (S. cerevisiae)" CDC14 phosphatases 900 1998-12-18 2013-01-17 2018-02-13 8555 ENSG00000081377 OTTHUMG00000020300 uc004awj.3 AF023158 NM_033331 "CCDS6721|CCDS87662|CCDS6722|CCDS43853" O60729 9367992 MGI:2441808 RGD:1311163 603505 HGNC:1719 "ENST00000375241.6|NM_033331.4" +HGNC:22427 CDC14C cell division cycle 14C protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "MGC26484|CDC14B2|CDC14Bretro|CDC14CP" 2005-03-09 2017-11-22 2017-12-06 168448 ENSG00000218305 OTTHUMG00000155844 BC028690 NM_152627 A4D256 "16201836|18547142|20720150" MGI:2441808 PGOHUM00000302621 HGNC:22427 "ENST00000650262.2|NM_152627.3" +HGNC:1720 CDC16 cell division cycle 16 protein-coding gene gene with protein product Approved 13q34 13q34 "APC6|ANAPC6|CUT9" anaphase-promoting complex, subunit 6 "CDC16 (cell division cycle 16, S. cerevisiae, homolog)|CDC16 cell division cycle 16 homolog (S. cerevisiae)|cell division cycle 16 homolog (S. cerevisiae)" "Anaphase promoting complex |Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes" "402|769|1691" 1999-06-07 2013-01-17 2015-09-11 8881 ENSG00000130177 OTTHUMG00000017402 uc001vuk.1 U18291 NM_003903 "CCDS81787|CCDS9542|CCDS81786" Q13042 7736578 MGI:1917207 RGD:1305076 603461 HGNC:1720 "ENST00000356221.8|NM_001078645.3" +HGNC:1723 CDC20 cell division cycle 20 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "p55CDC|CDC20A" fizzy homolog (drosophila) "CDC20 (cell division cycle 20, S. cerevisiae, homolog)|CDC20 cell division cycle 20 homolog (S. cerevisiae)|cell division cycle 20 homolog (S. cerevisiae)" WD repeat domain containing 362 1998-08-20 2013-01-17 2021-05-26 991 ENSG00000117399 OTTHUMG00000007420 uc001cix.4 U05340 NM_001255 CCDS484 Q12834 "7513050|9353311" MGI:1859866 RGD:620477 603618 HGNC:1723 "ENST00000310955.11|NM_001255.3" +HGNC:55681 CDC20-DT CDC20 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-07-01 2021-07-01 105378687 ENSG00000234694 XR_001738025 +HGNC:24222 CDC20B cell division cycle 20B protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FLJ37927 "CDC20 cell division cycle 20 homolog B (S. cerevisiae)|cell division cycle 20 homolog B (S. cerevisiae)" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2006-07-07 2013-01-17 2019-04-05 166979 ENSG00000164287 OTTHUMG00000131185 uc003jpn.3 AB086378 NM_152623 "CCDS3966|CCDS54852|CCDS47207" Q86Y33 30405130 MGI:3644472 RGD:1584143 HGNC:24222 "ENST00000381375.7|NM_001170402.1" +HGNC:29487 CDC20P1 cell division cycle 20 pseudogene 1 pseudogene pseudogene Approved 9q21.33 09q21.33 OTTHUMG00000020142 CDC20P "CDC20 cell division cycle 20 homolog pseudogene (S. cerevisiae)|cell division cycle 20 homolog (S. cerevisiae) pseudogene|cell division cycle 20 homolog (S. cerevisiae) pseudogene 1" 2005-05-20 2010-03-02 2013-01-17 2014-11-18 157956 ENSG00000231007 OTTHUMG00000020142 NG_001560 9682218 PGOHUM00000236675 HGNC:29487 +HGNC:1724 CDC23 cell division cycle 23 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "APC8|ANAPC8|CUT23" anaphase promoting complex subunit 8 "CDC23 (cell division cycle 23, yeast, homolog)|cell division cycle 23 homolog (S. cerevisiae)" "Anaphase promoting complex |Tetratricopeptide repeat domain containing" "402|769" 1998-06-25 2013-01-17 2016-10-05 8697 ENSG00000094880 OTTHUMG00000129198 uc003lcl.3 AF053977 NM_004661 CCDS4200 Q9UJX2 9790767 MGI:1098815 RGD:1304819 603462 HGNC:1724 "ENST00000394886.7|NM_004661.4" +HGNC:1725 CDC25A cell division cycle 25A protein-coding gene gene with protein product Approved 3p21.31 03p21.31 CDC25 homolog A (S. pombe) Class III Cys-based CDC25 phosphatases 713 1992-07-31 2013-01-17 2021-03-09 993 ENSG00000164045 OTTHUMG00000133535 uc003csh.2 M81933 NM_001789 "CCDS2760|CCDS2761" P30304 1836978 MGI:103198 RGD:621498 116947 HGNC:1725 "ENST00000302506.8|NM_001789.3" +HGNC:1726 CDC25B cell division cycle 25B protein-coding gene gene with protein product Approved 20p13 20p13 CDC25 homolog B (S. pombe) Class III Cys-based CDC25 phosphatases 713 1992-07-31 2013-01-17 2021-03-09 994 ENSG00000101224 OTTHUMG00000031764 uc002wjn.5 NM_021874 "CCDS13067|CCDS74700|CCDS74701|CCDS13066|CCDS13065" P30305 1836978 MGI:99701 RGD:621500 116949 HGNC:1726 "ENST00000245960.10|NM_021873.4" +HGNC:1727 CDC25C cell division cycle 25C protein-coding gene gene with protein product Approved 5q31.2 05q31.2 PPP1R60 "protein phosphatase 1, regulatory subunit 60|CDC25 homolog C (S. pombe)" CDC25 "Protein phosphatase 1 regulatory subunits|Class III Cys-based CDC25 phosphatases" "694|713" 1992-02-06 2013-01-17 2021-03-09 995 ENSG00000158402 OTTHUMG00000129203 uc063hkk.1 M34065 NM_001287582 "CCDS4202|CCDS4203" P30307 1703321 MGI:88350 RGD:1311875 157680 HGNC:1727 "ENST00000323760.11|NM_001790.5" +HGNC:17839 CDC26 cell division cycle 26 protein-coding gene gene with protein product Approved 9q32 09q32 "APC12|ANAPC12" "CDC26 subunit of anaphase promoting complex|anaphase promoting complex subunit 12" C9orf17 C9orf17 Anaphase promoting complex 402 2002-01-29 2003-11-26 2013-01-17 2017-12-06 246184 ENSG00000176386 OTTHUMG00000020521 uc004bgw.4 AF503918 NM_139286 CCDS6790 Q8NHZ8 "8895471|10922056" MGI:1913690 RGD:1311342 614533 HGNC:17839 "ENST00000374206.4|NM_139286.4" +HGNC:22770 CDC26P1 cell division cycle 26 pseudogene 1 pseudogene pseudogene Approved 7q32.1 07q32.1 TCAG_1970866 CDC26P "cell division cycle 26 pseudogene|cell division cycle 26 homolog (S. cerevisiae) pseudogene|cell division cycle 26 homolog (S. cerevisiae) pseudogene 1" 2003-11-24 2010-03-02 2013-01-17 2020-04-20 729948 ENSG00000238072 OTTHUMG00000157697 NG_011774 HGNC:22770 +HGNC:1728 CDC27 cell division cycle 27 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "APC3|ANAPC3|NUC2" anaphase promoting complex subunit 3 "D0S1430E|D17S978E" D0S1430E, D17S978E "Anaphase promoting complex |Tetratricopeptide repeat domain containing" "402|769" 1994-02-23 2013-01-17 2017-12-06 996 ENSG00000004897 OTTHUMG00000166429 uc002ild.5 U00001 NM_001114091 "CCDS45720|CCDS74090|CCDS11509" P30260 8234252 MGI:102685 RGD:1304921 116946 HGNC:1728 "ENST00000066544.8|NM_001256.6" +HGNC:38091 CDC27P1 cell division cycle 27 pseudogene 1 pseudogene pseudogene Approved 2q21.2 02q21.2 cell division cycle 27 homolog (S. cerevisiae) pseudogene 1 2010-04-14 2013-01-17 2015-05-18 647696 ENSG00000233786 OTTHUMG00000153604 NG_021586 PGOHUM00000298734 HGNC:38091 +HGNC:38092 CDC27P2 cell division cycle 27 pseudogene 2 pseudogene pseudogene Approved Yp11.2 Yp11.2 cell division cycle 27 homolog (S. cerevisiae) pseudogene 2 2010-04-14 2013-01-17 2015-05-18 100130277 ENSG00000237447 OTTHUMG00000036270 NG_021910 PGOHUM00000305464 HGNC:38092 +HGNC:51754 CDC27P3 cell division cycle 27 pseudogene 3 pseudogene pseudogene Approved 20q11.1 20q11.1 2015-05-19 2016-07-22 102723416 ENSG00000283005 OTTHUMG00000191536 PGOHUM00000297091 HGNC:51754 +HGNC:51753 CDC27P4 cell division cycle 27 pseudogene 4 pseudogene pseudogene Approved 20q11.21 20q11.21 2015-05-19 2015-05-19 2017-03-10 102723498 PGOHUM00000297094 HGNC:51753 +HGNC:51755 CDC27P5 cell division cycle 27 pseudogene 5 pseudogene pseudogene Approved 20q11.21 20q11.21 2015-05-19 2015-05-19 647654 PGOHUM00000296964 HGNC:51755 +HGNC:51756 CDC27P6 cell division cycle 27 pseudogene 6 pseudogene pseudogene Approved 14p11.2 14p11.2 2015-05-19 2015-05-19 649620 PGOHUM00000292251 HGNC:51756 +HGNC:51757 CDC27P7 cell division cycle 27 pseudogene 7 pseudogene pseudogene Approved 22p11.2 22p11.2 2015-05-19 2015-05-19 102723711 PGOHUM00000297573 HGNC:51757 +HGNC:51758 CDC27P8 cell division cycle 27 pseudogene 8 pseudogene pseudogene Approved 22p11.2 22p11.2 2015-05-19 2015-05-19 100288806 PGOHUM00000297402 HGNC:51758 +HGNC:51759 CDC27P9 cell division cycle 27 pseudogene 9 pseudogene pseudogene Approved 21p11.2 21p11.2 2015-05-19 2015-05-19 102723570 XR_430342 PGOHUM00000297179 HGNC:51759 +HGNC:51760 CDC27P10 cell division cycle 27 pseudogene 10 pseudogene pseudogene Approved 21p11.2 21p11.2 2015-05-19 2015-05-19 102723584 XR_007069360 PGOHUM00000297182 HGNC:51760 +HGNC:51761 CDC27P11 cell division cycle 27 pseudogene 11 pseudogene pseudogene Approved 21p11.2 21p11.2 2015-05-19 2015-05-19 102723603 PGOHUM00000297184 HGNC:51761 +HGNC:1734 CDC34 cell division cycle 34, ubiqiutin conjugating enzyme protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "E2-CDC34|UBE2R1|UBC3" ubiquitin conjugating enzyme E2 R1 Ubiquitin conjugating enzymes E2 102 1994-05-12 2020-03-10 2020-11-17 997 ENSG00000099804 OTTHUMG00000180558 uc002lov.5 L22005 NM_004359 CCDS12030 P49427 "8248134|16210246" MGI:102657 RGD:1305411 116948 HGNC:1734 "ENST00000215574.9|NM_004359.2" +HGNC:1735 CDC37 cell division cycle 37, HSP90 cochaperone protein-coding gene gene with protein product Approved 19p13.2 19p13.2 P50CDC37 "CDC37 cell division cycle 37 homolog|Hsp90 co-chaperone Cdc37|CDC37 (cell division cycle 37, S. cerevisiae, homolog)" "CDC37 (cell division cycle 37, S. cerevisiae, homolog)|CDC37 cell division cycle 37 homolog (S. cerevisiae)|cell division cycle 37 homolog (S. cerevisiae)" MicroRNA protein coding host genes 1691 1999-09-07 2020-03-10 2020-03-10 11140 ENSG00000105401 OTTHUMG00000180578 uc002mof.2 U63131 NM_007065 CCDS12237 Q16543 "8703009|8666233" MGI:109531 RGD:71006 605065 HGNC:1735 "ENST00000222005.7|NM_007065.4" +HGNC:17179 CDC37L1 cell division cycle 37 like 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "HARC|FLJ20639|CDC37B" "CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1|cell division cycle 37 homolog (S. cerevisiae)-like 1|cell division cycle 37-like 1" 2004-05-27 2016-03-15 2016-03-15 55664 ENSG00000106993 OTTHUMG00000019465 uc003zio.4 AK000497 NM_017913 CCDS6454 Q7L3B6 MGI:1914322 RGD:1309295 610346 HGNC:17179 "ENST00000381854.4|NM_017913.4" +HGNC:49735 CDC37L1-DT CDC37L1 divergent transcript non-coding RNA RNA, long non-coding Approved 9p24.1 09p24.1 CDC37L1-AS1 CDC37L1 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-02-13 2018-03-22 2018-03-22 2018-03-22 101929351 ENSG00000273061 OTTHUMG00000185906 CK820219 NR_121597 CDC37L1-AS1 HGNC:49735 +HGNC:34406 CDC37P1 cell division cycle 37 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 A-761H5.2 cell division cycle 37 homolog (S. cerevisiae) pseudogene 1 2009-01-29 2013-01-17 2017-10-25 390688 ENSG00000259982 OTTHUMG00000175739 NG_009463 15616553 PGOHUM00000293492 HGNC:34406 +HGNC:35453 CDC37P2 cell division cycle 37 pseudogene 2 pseudogene pseudogene Approved 16p12.1 16p12.1 cell division cycle 37 homolog (S. cerevisiae) pseudogene 2 2009-01-29 2013-01-17 2016-10-05 647015 ENSG00000261089 OTTHUMG00000175736 NG_009466 11413142 PGOHUM00000293752 HGNC:35453 +HGNC:17350 CDC40 cell division cycle 40 protein-coding gene gene with protein product Approved 6q21 06q21 "PRP17|EHB3|PRPF17|FLJ10564" "cell division cycle 40 homolog (yeast)|cell division cycle 40 homolog (S. cerevisiae)" "WD repeat domain containing|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "362|1498|1508|1510|1516" 2003-05-16 2013-01-17 2016-10-05 51362 ENSG00000168438 OTTHUMG00000015358 uc003pua.4 AF015044 NM_015891 CCDS5081 O60508 "9769104|9830021" MGI:1918963 RGD:1307063 605585 HGNC:17350 "ENST00000307731.2|NM_015891.3" +HGNC:1736 CDC42 cell division cycle 42 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "G25K|CDC42Hs" GTP binding protein, 25kDa "cell division cycle 42 (GTP-binding protein, 25kD)|cell division cycle 42 (GTP binding protein, 25kDa)" Rho family GTPases 390 1991-06-06 2013-01-17 2021-05-26 998 ENSG00000070831 OTTHUMG00000002753 uc057ddl.1 BC018266 NM_001791 "CCDS221|CCDS222" P60953 "2124704|2122236" MGI:106211 RGD:71043 LRG_1326|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1326.xml 116952 470056 HGNC:1736 "ENST00000656825.1|NM_001791.4" HGNC:1736 +HGNC:54314 CDC42-AS1 CDC42 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 Antisense RNAs 1987 2019-05-03 2019-05-03 112268223 ENSG00000285752 HGNC:54314 +HGNC:41317 CDC42-IT1 CDC42 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 CDC42 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874292 ENSG00000230068 OTTHUMG00000002890 uc057ddo.1 CDC42-IT1 +HGNC:1737 CDC42BPA CDC42 binding protein kinase alpha protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "MRCKA|PK428|FLJ23347|KIAA0451|MRCK" myotonic dystrophy kinase-related Cdc42-binding kinase CDC42-binding protein kinase alpha (DMPK-like) AGC family kinases 1625 1998-11-06 2016-01-05 2018-09-17 8476 ENSG00000143776 OTTHUMG00000037618 uc001hqr.4 U59305 NM_014826 "CCDS1559|CCDS1558" Q5VT25 MGI:2441841 RGD:621406 603412 objectId:1507 HGNC:1737 "ENST00000366766.8|NM_001394014.1" +HGNC:1738 CDC42BPB CDC42 binding protein kinase beta protein-coding gene gene with protein product Approved 14q32.32 14q32.32 "MRCKB|KIAA1124" CDC42-binding protein kinase beta (DMPK-like) AGC family kinases 1625 1998-11-06 2016-01-05 2018-09-17 9578 ENSG00000198752 OTTHUMG00000171898 uc001ymi.2 AF128625 NM_006035 CCDS9978 Q9Y5S2 10198171 MGI:2136459 RGD:621753 614062 objectId:1508 HGNC:1738 "ENST00000361246.7|NM_006035.4" HGNC:1738 +HGNC:29829 CDC42BPG CDC42 binding protein kinase gamma protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HSMDPKIN|MRCKgamma|DMPK2|kappa-200" CDC42 binding protein kinase gamma (DMPK-like) "Pleckstrin homology domain containing|AGC family kinases" "682|1625" 2004-11-15 2016-01-05 2016-11-11 55561 ENSG00000171219 OTTHUMG00000045365 uc001obs.5 AY648038 NM_017525 CCDS31601 Q6DT37 "9341881|15194684" MGI:2652845 RGD:1307260 613991 objectId:1506 HGNC:29829 "ENST00000342711.6|NM_017525.3" +HGNC:17014 CDC42EP1 CDC42 effector protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "MSE55|CEP1|Borg5" "55 kDa bone marrow stromal/endothelial cell protein|serum constituent protein|binder of Rho GTPases 5" CDC42 effector protein (Rho GTPase binding) 1 CDC42 effector proteins 1164 2002-08-27 2016-01-07 2016-01-07 11135 ENSG00000128283 OTTHUMG00000150591 uc003asz.5 M88338 NM_152243 CCDS13949 Q00587 "1629197|10430899" MGI:1929763 RGD:1311131 606084 HGNC:17014 "ENST00000249014.5|NM_152243.3" +HGNC:16263 CDC42EP2 CDC42 effector protein 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "CEP2|BORG1" "CRIB-containing BOGR1 protein|binder of Rho GTPases 1" CDC42 effector protein (Rho GTPase binding) 2 CDC42 effector proteins 1164 2002-08-27 2016-01-07 2016-10-05 10435 ENSG00000149798 OTTHUMG00000165958 uc001odl.3 AF098290 NM_006779 CCDS8099 O14613 "10490598|11035016" MGI:1929744 RGD:1310253 606132 HGNC:16263 "ENST00000279249.3|NM_006779.4" +HGNC:16943 CDC42EP3 CDC42 effector protein 3 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "CEP3|UB1|BORG2" binder of Rho GTPases 2 CDC42 effector protein (Rho GTPase binding) 3 CDC42 effector proteins 1164 2002-08-27 2016-01-07 2016-10-05 10602 ENSG00000163171 OTTHUMG00000100971 uc031roa.1 AF094521 NM_006449 CCDS1791 Q9UKI2 "9535835|11035016" MGI:2384718 RGD:1305858 606133 HGNC:16943 "ENST00000295324.4|NM_006449.5" +HGNC:49673 CDC42EP3P1 CDC42 effector protein 3 pseudogene 1 pseudogene pseudogene Approved 19p12 19p12 CDC42 effector protein (Rho GTPase binding) 3 pseudogene 1 2014-02-04 2016-01-07 2016-01-07 100128845 ENSG00000268992 OTTHUMG00000183271 NG_021762 PGOHUM00000234638 HGNC:49673 +HGNC:17147 CDC42EP4 CDC42 effector protein 4 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "CEP4|KAIA1777|BORG4|MGC3740|MGC17125" "Cdc42 effector protein 4|binder of Rho GTPases 4" CDC42 effector protein (Rho GTPase binding) 4 CDC42 effector proteins 1164 2002-08-27 2016-01-07 2016-01-15 23580 ENSG00000179604 OTTHUMG00000178419 uc002jjo.4 AB042237 NM_012121 CCDS11695 Q9H3Q1 "11035016|10490598" MGI:1929760 RGD:1311567 605468 HGNC:17147 "ENST00000335793.4|NM_012121.5" +HGNC:17408 CDC42EP5 CDC42 effector protein 5 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "CEP5|Borg3" binder of Rho GTPases 3 CDC42 effector protein (Rho GTPase binding) 5 CDC42 effector proteins 1164 2003-12-02 2016-01-07 2020-04-20 148170 ENSG00000167617 OTTHUMG00000065699 uc002qfz.3 BC024327 NM_145057 CCDS12896 Q6NZY7 MGI:1929745 RGD:1308382 609171 HGNC:17408 "ENST00000301200.3|NM_145057.4" +HGNC:16339 CDC42P1 cell division cycle 42 pseudogene 1 pseudogene pseudogene Approved 20q11.22 20q11.22 bK3216D2.3 2001-09-17 2011-05-19 170503 ENSG00000234933 OTTHUMG00000032293 AL356299 NG_023206 PGOHUM00000247518 HGNC:16339 +HGNC:33952 CDC42P2 cell division cycle 42 pseudogene 2 pseudogene pseudogene Approved 7p11.2 07p11.2 2008-01-23 2020-04-20 643336 ENSG00000234844 OTTHUMG00000156120 NG_007652 PGOHUM00000232697 HGNC:33952 +HGNC:44427 CDC42P3 cell division cycle 42 pseudogene 3 pseudogene pseudogene Approved 8q24.3 08q24.3 2012-10-08 2012-10-08 100128627 ENSG00000253971 OTTHUMG00000164753 NR_102426 PGOHUM00000249812 HGNC:44427 +HGNC:44428 CDC42P4 cell division cycle 42 pseudogene 4 pseudogene pseudogene Approved 4q25 04q25 2012-10-08 2012-10-08 100131440 ENSG00000249965 OTTHUMG00000161101 NG_022069 PGOHUM00000246022 HGNC:44428 +HGNC:44429 CDC42P5 cell division cycle 42 pseudogene 5 pseudogene pseudogene Approved 5q35.1 05q35.1 2012-10-08 2012-10-08 100507354 ENSG00000253439 OTTHUMG00000163321 NG_030075 PGOHUM00000235456 HGNC:44429 +HGNC:44430 CDC42P6 cell division cycle 42 pseudogene 6 pseudogene pseudogene Approved 4p15.2 04p15.2 CDC42P6 2012-10-08 2013-01-17 2013-01-17 643751 ENSG00000237350 OTTHUMG00000160449 NG_008215 HGNC:44430 +HGNC:17719 CDC42SE1 CDC42 small effector 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "SCIP1|SPEC1" 2004-07-02 2016-10-05 56882 ENSG00000197622 OTTHUMG00000035158 uc001ewp.4 AF187845 NM_020239 CCDS981 Q9NRR8 10816584 MGI:1889510 RGD:1561700 619456 HGNC:17719 "ENST00000357235.6|NM_020239.4" +HGNC:18547 CDC42SE2 CDC42 small effector 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "FLJ21967|SPEC2" 2004-07-02 2016-10-25 56990 ENSG00000158985 OTTHUMG00000162692 uc003kvj.4 AF189692 NM_020240 CCDS34224 Q9NRR3 10816584 MGI:1919979 RGD:1563924 619457 HGNC:18547 "ENST00000505065.2|NM_001375635.1" +HGNC:1739 CDC45 cell division cycle 45 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 human CDC45 "CDC45L2|CDC45L" "CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like|CDC45 cell division cycle 45-like (S. cerevisiae)|cell division cycle 45 homolog (S. cerevisiae)" CMG helicase complex 1999 1998-09-08 2010-03-24 2013-01-17 2021-05-26 8318 ENSG00000093009 OTTHUMG00000150386 uc002zpr.5 AF053074 NM_003504 "CCDS13762|CCDS54500|CCDS54499" O75419 "9660782|9724329|17608804" MGI:1338073 RGD:1590928 603465 461769 HGNC:1739 "ENST00000263201.7|NM_003504.5" HGNC:1739 +HGNC:16783 CDC73 cell division cycle 73 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "parafibromin|FIHP" Paf1/RNA polymerase II complex component "C1orf28|HRPT2|HRPT1" "chromosome 1 open reading frame 28|hyperparathyroidism 2 (with jaw tumor)|cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)|hyperparathyroidism 1|Familial isolated hyperparathyroidism" "Paf1/RNA polymerase II complex |MicroRNA protein coding host genes" "1029|1691" 2001-10-08 2005-07-20 2013-01-17 2021-05-26 79577 ENSG00000134371 OTTHUMG00000035676 uc001gtb.4 AF312865 NM_024529 CCDS1382 Q6P1J9 "11318611|15632063|18755853" MGI:2384876 RGD:1311766 LRG_507|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_507.xml CDC73 607393 119271 HGNC:16783 "ENST00000367435.5|NM_024529.5" HGNC:16783 +HGNC:16827 CDC123 cell division cycle 123 protein-coding gene gene with protein product Approved 10p14-p13 10p14-p13 D123 C10orf7 "chromosome 10 open reading frame 7|cell division cycle 123 homolog (S. cerevisiae)" 2003-03-10 2006-11-06 2013-01-17 2018-02-13 8872 ENSG00000151465 OTTHUMG00000017680 uc001ill.4 BC001600 NM_006023 CCDS7090 O75794 15319434 MGI:2138811 RGD:619766 617708 HGNC:16827 "ENST00000281141.9|NM_006023.3" +HGNC:14623 CDCA2 cell division cycle associated 2 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "Repo-Man|PPP1R81" protein phosphatase 1, regulatory subunit 81 Protein phosphatase 1 regulatory subunits 694 2002-04-03 2014-11-18 157313 ENSG00000184661 OTTHUMG00000099429 uc003xep.2 BG354575 NM_152562 "CCDS83266|CCDS6049" Q69YH5 "12188893|16492807" MGI:1919787 RGD:1311003 618785 HGNC:14623 "ENST00000330560.8|NM_152562.4" +HGNC:14624 CDCA3 cell division cycle associated 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "TOME-1|GRCC8" trigger of mitotic entry 1 2002-04-03 2019-08-21 83461 ENSG00000111665 OTTHUMG00000169014 uc001qrg.3 BG354576 NM_031299 "CCDS73428|CCDS76512|CCDS76513|CCDS8565" Q99618 "9074930|12188893" MGI:1315198 RGD:1359093 607749 HGNC:14624 "ENST00000538862.7|NM_031299.7" +HGNC:14625 CDCA4 cell division cycle associated 4 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "FLJ20764|Hepp" hematopoietic progenitor protein 2002-04-03 2014-11-19 55038 ENSG00000170779 OTTHUMG00000170767 uc001yqb.3 BG354577 NM_145701 CCDS9996 Q9BXL8 12188893 MGI:1919213 RGD:1563593 612270 HGNC:14625 "ENST00000336219.4|NM_017955.4" +HGNC:49770 CDCA4P1 cell division cycle associated 4 pseudogene 1 pseudogene pseudogene Approved 9p22.3 09p22.3 2014-02-14 2014-02-14 100420502 ENSG00000229029 OTTHUMG00000019571 NG_023874 PGOHUM00000236391 HGNC:49770 +HGNC:49771 CDCA4P2 cell division cycle associated 4 pseudogene 2 pseudogene pseudogene Approved 1p22.3 01p22.3 2014-02-14 2014-02-14 100129348 ENSG00000224466 OTTHUMG00000010262 NG_008469 PGOHUM00000259467 HGNC:49771 +HGNC:49772 CDCA4P3 cell division cycle associated 4 pseudogene 3 pseudogene pseudogene Approved 1q32.2 01q32.2 2014-02-14 2014-02-14 100420558 ENSG00000226289 OTTHUMG00000057673 NG_027199 PGOHUM00000245189 HGNC:49772 +HGNC:49773 CDCA4P4 cell division cycle associated 4 pseudogene 4 pseudogene pseudogene Approved 1q32.2 01q32.2 2014-02-14 2014-02-14 100188945 ENSG00000234219 OTTHUMG00000057675 NG_008470 PGOHUM00000245191 HGNC:49773 +HGNC:14626 CDCA5 cell division cycle associated 5 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 sororin 2002-04-03 2014-11-19 113130 ENSG00000146670 OTTHUMG00000150420 uc001ocp.3 BG354578 NM_080668 CCDS8091 Q96FF9 "12188893|15837422" MGI:1915099 RGD:1560863 609374 470058 HGNC:14626 "ENST00000275517.8|NM_080668.4" +HGNC:14628 CDCA7 cell division cycle associated 7 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "FLJ14736|JPO1" 2002-04-03 2021-05-26 83879 ENSG00000144354 OTTHUMG00000132296 uc002uid.2 BG354580 NM_031942 "CCDS2252|CCDS2253" Q9BWT1 "11598121|12188893" MGI:1914203 RGD:1309363 609937 436811 HGNC:14628 "ENST00000306721.8|NM_031942.5" HGNC:14628 +HGNC:30777 CDCA7L cell division cycle associated 7 like protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "RAM2|R1|JPO2" cell division cycle associated 7-like 2005-05-13 2016-02-03 2016-02-03 55536 ENSG00000164649 OTTHUMG00000128429 uc010kuk.4 NM_018719 "CCDS47558|CCDS47559|CCDS5374" Q96GN5 16829576 MGI:2384982 RGD:1564080 609685 HGNC:30777 "ENST00000406877.8|NM_018719.5" +HGNC:14629 CDCA8 cell division cycle associated 8 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ12042|MESRGP|BOR|DasraB" borealin Chromosomal passenger complex 1338 2002-04-03 2016-10-04 55143 ENSG00000134690 OTTHUMG00000004320 uc001cbs.5 BG354581 NM_018101 CCDS424 Q53HL2 "12188893|15260989" MGI:1196274 RGD:1566306 609977 HGNC:14629 "ENST00000373055.6|NM_001256875.2" +HGNC:24357 CDCP1 CUB domain containing protein 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CD318|SIMA135" CD molecules 471 2005-02-24 2016-10-05 64866 ENSG00000163814 OTTHUMG00000133090 uc003com.5 AF468010 NM_022842 "CCDS2727|CCDS46812" Q9H5V8 11466621 MGI:2442010 RGD:1305578 611735 CD318 HGNC:24357 "ENST00000296129.6|NM_022842.5" +HGNC:27297 CDCP2 CUB domain containing protein 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 2006-01-20 2015-08-24 200008 ENSG00000157211 OTTHUMG00000155307 uc001cwv.3 NM_201546 "CCDS588|CCDS85977" Q5VXM1 12477932 MGI:3045328 RGD:1563467 612320 HGNC:27297 +HGNC:1748 CDH1 cadherin 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "uvomorulin|CD324" E-Cadherin UVO cadherin 1, type 1, E-cadherin (epithelial) "CD molecules|Type I classical cadherins" "471|1185" 1986-01-01 2016-01-15 2021-05-26 999 ENSG00000039068 OTTHUMG00000137561 uc002ewg.2 L08599 NM_004360 "CCDS10869|CCDS82005" P12830 9925936 MGI:88354 RGD:69279 LRG_301|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_301.xml CDH1 192090 119276 CD324 HGNC:1748 "ENST00000261769.10|NM_004360.5" HGNC:1748 +HGNC:1759 CDH2 cadherin 2 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "CDHN|CD325" N-cadherin NCAD cadherin 2, type 1, N-cadherin (neuronal) "CD molecules|Type I classical cadherins" "471|1185" 1991-09-13 2016-01-15 2021-05-26 1000 ENSG00000170558 OTTHUMG00000059940 uc002kwg.3 S42303 NM_001792 "CCDS11891|CCDS77172" P19022 "2384753|7731968|2216790" MGI:88355 RGD:69280 114020 CDw325 HGNC:1759 "ENST00000269141.8|NM_001792.5" HGNC:1759 +HGNC:1762 CDH3 cadherin 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CDHP|PCAD" P-cadherin "cadherin 3, P-cadherin (placental)|cadherin 3, type 1, P-cadherin (placental)" Type I classical cadherins 1185 1992-07-10 2016-01-15 2021-11-04 1001 ENSG00000062038 OTTHUMG00000137560 uc002ewf.3 X63629 NM_001793 "CCDS10868|CCDS82004" P22223 MGI:88356 RGD:621089 Mutations of the P-Cadherin Gene|http://www.retina-international.org/files/sci-news/cdh3mut.htm 114021 119285 HGNC:1762 "ENST00000264012.9|NM_001793.6" HGNC:1762 +HGNC:56084 CDH3-AS1 CDH3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 Antisense RNAs 1987 2021-12-20 2021-12-20 123706523 ENSG00000260577 +HGNC:1763 CDH4 cadherin 4 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 R-CAD R-Cadherin cadherin 4, type 1, R-cadherin (retinal) Type I classical cadherins 1185 1995-08-11 2016-01-15 2021-11-11 1002 ENSG00000179242 OTTHUMG00000032890 uc032pok.1 L34059 NM_001794 "CCDS13488|CCDS58784" P55283 "10191097|10516427" MGI:99218 RGD:621091 603006 HGNC:1763 "ENST00000614565.5|NM_001794.5" HGNC:1763 +HGNC:1764 CDH5 cadherin 5 protein-coding gene gene with protein product Approved 16q21 16q21 "7B4|CD144" VE-cadherin "cadherin 5, type 2, VE-cadherin (vascular epithelium)|cadherin 5, type 2 (vascular endothelium)" "CD molecules|Type II classical cadherins" "471|1186" 1992-11-20 2016-01-15 2016-10-05 1003 ENSG00000179776 OTTHUMG00000137495 uc002eom.5 X79981 NM_001795 CCDS10804 P33151 2059658 MGI:105057 RGD:1307370 601120 CD144 HGNC:1764 "ENST00000341529.8|NM_001795.5" +HGNC:1765 CDH6 cadherin 6 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 K-Cadherin cadherin 6, type 2, K-cadherin (fetal kidney) Type II classical cadherins 1186 1997-02-10 2016-01-15 2016-01-15 1004 ENSG00000113361 OTTHUMG00000090673 uc003jhe.3 D31784 NM_004932 CCDS3894 P55285 "7743525|10191097" MGI:107435 RGD:2322 603007 HGNC:1765 "ENST00000265071.3|NM_004932.4" +HGNC:1766 CDH7 cadherin 7 protein-coding gene gene with protein product Approved 18q22.1 18q22.1 cadherin 7, type 2 Type II classical cadherins 1186 1997-02-10 2016-01-15 2016-01-15 1005 ENSG00000081138 OTTHUMG00000132800 uc002lkb.4 AB035301 NM_033646 "CCDS11993|CCDS82259" Q9ULB5 9615235 MGI:2442792 RGD:1306856 605806 HGNC:1766 "ENST00000397968.4|NM_004361.5" +HGNC:1767 CDH8 cadherin 8 protein-coding gene gene with protein product Approved 16q21 16q21 cadherin 8, type 2 Type II classical cadherins 1186 1997-02-10 2016-01-15 2016-10-05 1006 ENSG00000150394 OTTHUMG00000137493 uc002eog.3 L34060 NM_001796 CCDS10802 P55286 "9615235|2059658" MGI:107434 RGD:69286 603008 HGNC:1767 "ENST00000577390.6|NM_001796.5" +HGNC:55399 CDH8-AS1 CDH8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q21 16q21 Antisense RNAs 1987 2020-12-21 2020-12-21 119863871 ENSG00000260115 +HGNC:1768 CDH9 cadherin 9 protein-coding gene gene with protein product Approved 5p14.1 05p14.1 cadherin 9, type 2 (T1-cadherin) Type II classical cadherins 1186 1997-02-10 2016-01-15 2016-10-05 1007 ENSG00000113100 OTTHUMG00000090671 uc003jgs.2 AB035302 NM_016279 CCDS3893 Q9ULB4 2059658 MGI:107433 RGD:1308343 609974 470062 HGNC:1768 "ENST00000231021.9|NM_016279.4" +HGNC:1749 CDH10 cadherin 10 protein-coding gene gene with protein product Approved 5p14.2-p14.1 05p14.2-p14.1 cadherin 10, type 2 (T2-cadherin) Type II classical cadherins 1186 1997-02-10 2016-01-15 2021-05-26 1008 ENSG00000040731 OTTHUMG00000090667 uc003jgr.3 AF039747 NM_006727 CCDS3892 Q9Y6N8 2059658 MGI:107436 RGD:619741 604555 470060 HGNC:1749 "ENST00000264463.8|NM_006727.5" +HGNC:1750 CDH11 cadherin 11 protein-coding gene gene with protein product Approved 16q21 16q21 "OB|CAD11" OB-Cadherin cadherin 11, type 2, OB-cadherin (osteoblast) Type II classical cadherins 1186 1995-03-30 2016-01-15 2021-05-26 1009 ENSG00000140937 OTTHUMG00000137494 uc002eoi.4 D21255 NM_033664 "CCDS81993|CCDS10803|CCDS81992" P55287 9615235 MGI:99217 RGD:619742 CDH11 600023 HGNC:1750 "ENST00000268603.9|NM_001797.4" HGNC:1750 +HGNC:1751 CDH12 cadherin 12 protein-coding gene gene with protein product Approved 5p14.3 05p14.3 "Br-cadherin|CDHB" cadherin 12, type 2 (N-cadherin 2) Type II classical cadherins 1186 1995-07-14 2016-01-15 2021-05-26 1010 ENSG00000154162 OTTHUMG00000090591 uc063cos.1 L33477 NM_004061 "CCDS82991|CCDS3890" P55289 7731968 MGI:109503 RGD:1566350 600562 HGNC:1751 "ENST00000382254.6|NM_004061.5" +HGNC:37698 CDH12P1 cadherin 12 pseudogene 1 pseudogene pseudogene Approved 5q13.2 05q13.2 cadherin 12 (N-cadherin 2) pseudogene 1 2010-01-20 2016-01-15 2016-01-15 100093625 ENSG00000254335 OTTHUMG00000164541 NG_007328.2 PGOHUM00000300623 HGNC:37698 +HGNC:1752 CDH12P2 cadherin 12 pseudogene 2 pseudogene pseudogene Approved 5q13.2 05q13.2 C41-CAD CDH12P "cadherin 12 (N-cadherin 2) pseudogene|cadherin 12 (N-cadherin 2) pseudogene 2" 1995-11-30 2010-01-20 2016-01-15 2016-01-15 1011 ENSG00000249230 OTTHUMG00000162392 AC004999 NR_002209 "7731968|10369862" PGOHUM00000300615 HGNC:1752 +HGNC:37699 CDH12P3 cadherin 12 pseudogene 3 pseudogene pseudogene Approved 5q13.2 05q13.2 cadherin 12 (N-cadherin 2) pseudogene 3 2010-01-20 2016-01-15 2016-01-15 100093624 ENSG00000253492 OTTHUMG00000162449 NG_007327.1 PGOHUM00000257125 HGNC:37699 +HGNC:37700 CDH12P4 cadherin 12 pseudogene 4 pseudogene pseudogene Approved 5q13.2 05q13.2 cadherin 12 (N-cadherin 2) pseudogene 4 2010-01-20 2016-01-15 2016-01-15 100093626 ENSG00000253900 OTTHUMG00000164582 NG_007329.1 PGOHUM00000301002 HGNC:37700 +HGNC:1753 CDH13 cadherin 13 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 CDHH "T-cadherin|H-cadherin (heart)" "Major cadherins|MicroRNA protein coding host genes" "18|1691" 1997-02-10 2013-08-27 2020-01-06 1012 ENSG00000140945 OTTHUMG00000176635 uc010vns.3 U59288 NM_001257 "CCDS58486|CCDS56009|CCDS58485|CCDS56010|CCDS58487" P55290 "8673923|9468307" MGI:99551 RGD:619745 601364 HGNC:1753 "ENST00000567109.6|NM_001257.5" +HGNC:55989 CDH13-AS1 CDH13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q23.3 16q23.3 RP11-543N12.1 Antisense RNAs 1987 2021-11-15 2021-11-15 105371368 ENSG00000261410 XR_007065144 29956723 +HGNC:1754 CDH15 cadherin 15 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "CDH3|CDH14" "cadherin 15, M-cadherin (myotubule)|cadherin 15, type 1, M-cadherin (myotubule)" Type I classical cadherins 1185 1994-12-14 2016-01-15 2021-11-04 1013 ENSG00000129910 OTTHUMG00000138045 uc002fmt.4 D83542 NM_004933 CCDS10976 P55291 "1427864|9615235" MGI:106672 RGD:1303000 114019 199894 HGNC:1754 "ENST00000289746.3|NM_004933.3" HGNC:1754 +HGNC:1755 CDH16 cadherin 16 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 cadherin 16, KSP-cadherin 7D cadherins 1187 1997-02-10 2015-12-04 2015-12-04 1014 ENSG00000166589 OTTHUMG00000137518 uc002eql.3 AF016272 NM_004062 "CCDS10823|CCDS56002|CCDS58472|CCDS58471" O75309 "9721215|7615566" MGI:106671 RGD:1311638 603118 HGNC:1755 "ENST00000299752.9|NM_004062.4" +HGNC:1756 CDH17 cadherin 17 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "HPT-1|cadherin" cadherin 17, LI cadherin (liver-intestine) 7D cadherins 1187 1997-02-10 2016-01-15 2016-01-15 1015 ENSG00000079112 OTTHUMG00000164391 uc011lgp.2 X83228 NM_004063 CCDS6260 Q12864 "9615235|10191097" MGI:1095414 RGD:619748 603017 HGNC:1756 "ENST00000027335.8|NM_004063.4" +HGNC:1757 CDH18 cadherin 18 protein-coding gene gene with protein product Approved 5p14.3 05p14.3 "CDH14|EY-CADHERIN" cadherin 18, type 2 Type II classical cadherins 1186 1997-06-25 2016-01-15 2016-01-15 1016 ENSG00000145526 OTTHUMG00000090578 uc003jgc.4 U59325 NM_004934 "CCDS75229|CCDS54835|CCDS3889" Q13634 "9030594|10191097" MGI:1344366 RGD:1305430 603019 HGNC:1757 "ENST00000382275.6|NM_004934.5" +HGNC:53088 CDH18-AS1 CDH18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p14.3 05p14.3 Antisense RNAs 1987 2017-02-08 2017-02-08 102725105 ENSG00000249854 OTTHUMG00000162015 NR_146519 HGNC:53088 +HGNC:1758 CDH19 cadherin 19 protein-coding gene gene with protein product Approved 18q22.1 18q22.1 CDH7 cadherin 19, type 2 Type II classical cadherins 1186 1998-11-18 2016-01-15 2016-01-15 28513 ENSG00000071991 OTTHUMG00000132802 uc002lkc.3 AJ007607 NM_021153 "CCDS59325|CCDS11994" Q9H159 10995570 MGI:3588198 RGD:1307169 603016 HGNC:1758 "ENST00000262150.7|NM_021153.4" +HGNC:1760 CDH20 cadherin 20 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "CDH7L3|Cdh7" cadherin 20, type 2 Type II classical cadherins 1186 1998-11-18 2016-01-15 2016-01-15 28316 ENSG00000101542 OTTHUMG00000132768 uc002lif.3 AF217289 NM_031891 CCDS11977 Q9HBT6 10995570 MGI:1346069 RGD:1305438 605807 HGNC:1760 "ENST00000262717.9|NM_031891.4" +HGNC:13251 CDH22 cadherin 22 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ998H6.1 C20orf25 "cadherin-like 22|cadherin 22, type 2" Type II classical cadherins 1186 2001-06-01 2016-01-15 2016-10-05 64405 ENSG00000149654 OTTHUMG00000033073 uc010ghk.3 AF035300 NM_021248 CCDS13395 Q9UJ99 8626716 MGI:1341843 RGD:2321 609920 HGNC:13251 "ENST00000537909.4|NM_021248.3" +HGNC:13733 CDH23 cadherin related 23 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 CDHR23 cadherin-related family member 23 "DFNB12|USH1D" cadherin-like 23 "Cadherin related|MicroRNA protein coding host genes" "24|1691" 2000-10-19 2016-06-03 2021-05-26 64072 ENSG00000107736 OTTHUMG00000019347 uc057twh.2 AY010111 NM_052836 "CCDS53540|CCDS44429|CCDS86100|CCDS81472|CCDS81473|CCDS73146" Q9H251 11090341 MGI:1890219 RGD:619760 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|Mutations of the Cadherin-related Protein 23 Gene|http://www.retina-international.org/files/sci-news/cdh23mut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=CDH23" 605516 119281 HGNC:13733 "ENST00000224721.12|NM_022124.6" HGNC:13733 +HGNC:31433 CDH23-AS1 CDH23 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.1 10q22.1 bA327E2.3 "C10orf106|NCRNA00223" "chromosome 10 open reading frame 106|non-protein coding RNA 223|CDH23 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-08-11 2012-08-15 2020-04-20 102723377 ENSG00000223817 OTTHUMG00000018425 uc057twm.1 NR_120672 CDH23-AS1 HGNC:31433 +HGNC:14265 CDH24 cadherin 24 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 CDH11L "cadherin-like 24|cadherin 24, type 2" Type II classical cadherins 1186 2000-12-19 2016-01-15 2016-01-15 64403 ENSG00000139880 OTTHUMG00000028715 uc010akf.4 AL137477 NM_022478 "CCDS9586|CCDS9585" Q86UP0 12734196 MGI:1928330 RGD:1560161 618599 HGNC:14265 "ENST00000487137.7|NM_144985.4" +HGNC:15902 CDH26 cadherin 26 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 VR20 cadherin-like 26 Major cadherins 18 2001-06-21 2009-11-20 2014-11-18 60437 ENSG00000124215 OTTHUMG00000032874 uc002ybe.4 "AF169690|AK055202" NM_177980 "CCDS13485|CCDS86964|CCDS13486" Q8IXH8 MGI:2685856 RGD:1311632 617685 HGNC:15902 "ENST00000348616.9|NM_177980.4" +HGNC:14550 CDHR1 cadherin related family member 1 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "KIAA1775|CORD15|RP65" PCDH21 "protocadherin 21|cadherin-related family member 1" Cadherin related 24 2001-02-13 2010-01-25 2015-11-23 2021-05-26 92211 ENSG00000148600 OTTHUMG00000018634 uc001kcv.4 AB053448 NM_033100 "CCDS7372|CCDS53548" Q96JP9 11597768 MGI:2157782 RGD:620420 609502 244385 HGNC:14550 "ENST00000623527.4|NM_033100.4" HGNC:14550 +HGNC:18231 CDHR2 cadherin related family member 2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "PC-LKC|FLJ20124|FLJ20383|PCLKC" protocadherin LKC PCDH24 "protocadherin 24|cadherin-related family member 2" Cadherin related 24 2008-01-18 2010-01-25 2015-11-23 2016-10-25 54825 ENSG00000074276 OTTHUMG00000163229 uc021yie.2 AB047004 NM_017675 CCDS34297 Q9BYE9 "11082270|12117771" MGI:2687323 RGD:1560576 619713 HGNC:18231 "ENST00000261944.10|NM_017675.6" +HGNC:26308 CDHR3 cadherin related family member 3 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "FLJ44366|FLJ23834|CDH28" cadherin-related family member 3 Cadherin related 24 2010-01-25 2015-11-23 2016-10-05 222256 ENSG00000128536 OTTHUMG00000157520 uc003vdl.5 AK126338 NM_152750 "CCDS75651|CCDS47684" Q6ZTQ4 MGI:1916014 RGD:1591286 615610 HGNC:26308 "ENST00000317716.14|NM_152750.5" +HGNC:34527 CDHR4 cadherin related family member 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 VLLR9392 CDH29 "cadherin-like 29|cadherin-related family member 4" Cadherin related 24 2008-09-18 2010-01-25 2015-11-23 2015-11-23 389118 ENSG00000187492 OTTHUMG00000158198 uc010hkz.4 NM_001007540 CCDS46829 A6H8M9 MGI:1916648 RGD:1306603 HGNC:34527 "ENST00000412678.7|NM_001007540.4" +HGNC:7521 CDHR5 cadherin related family member 5 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ20219|MU-PCDH" "MUCDHL|MUPCDH" "mucin and cadherin-like|mucin-like protocadherin|cadherin-related family member 5" Cadherin related 24 2000-05-19 2010-01-25 2015-11-23 2015-11-23 53841 ENSG00000099834 OTTHUMG00000132018 uc057xiz.1 AF258675 NM_021924 "CCDS7707|CCDS7708" Q9HBB8 "11031102|10801787" MGI:1919290 RGD:620504 606839 HGNC:7521 "ENST00000397542.7|NM_021924.5" +HGNC:26929 CDIN1 CDAN1 interacting nuclease 1 protein-coding gene gene with protein product Approved 15q14 15q14 "HH114|MGC11326|FLJ22851" C15orf41 chromosome 15 open reading frame 41 2005-10-24 2020-04-02 2020-04-02 2020-11-30 84529 ENSG00000186073 OTTHUMG00000172659 uc059hjw.1 BC006254 NM_032499 "CCDS45215|CCDS86446|CCDS86447|CCDS86445|CCDS45216|CCDS81861" Q9Y2V0 "23716552|31191338|33121234" MGI:3026886 RGD:1563680 615626 362774 HGNC:26929 "ENST00000566621.6|NM_001321759.2" HGNC:26929 +HGNC:13234 CDIP1 cell death inducing p53 target 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CDIP|LITAFL" "cell death involved p53-target|lipopolysaccharide-induced TNF factor-like" C16orf5 "chromosome 16 open reading frame 5|cell death-inducing p53 target 1" 2004-04-30 2012-11-14 2016-07-14 2016-07-14 29965 ENSG00000089486 OTTHUMG00000177172 uc002cwv.4 AF131218 NM_013399 "CCDS58419|CCDS42114|CCDS58420" Q9H305 "10570909|17599062" MGI:1913876 RGD:1310686 610503 HGNC:13234 "ENST00000567695.6|NM_013399.3" +HGNC:1769 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "PIS1|PIS" phosphatidylinositol synthase CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase) 2000-02-01 2010-04-29 2015-08-24 10423 ENSG00000103502 OTTHUMG00000177144 uc002dum.5 AF014807 NM_006319 "CCDS10657|CCDS67002" O14735 9407135 MGI:105491 RGD:620576 605893 2.7.8.11 HGNC:1769 "ENST00000219789.11|NM_006319.5" +HGNC:48609 CDIPTOSP CDIP transferase opposite strand, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 CDIPT-AS1 CDIPT antisense RNA 1 (head to head) 2013-05-24 2018-03-08 2018-03-08 2018-03-08 440356 ENSG00000214725 OTTHUMG00000177145 AK131031 NR_015396 P0DO92 MGI:2443610 CDIPT-AS1 HGNC:48609 +HGNC:1722 CDK1 cyclin dependent kinase 1 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 CDC28A CDC2 cell division cycle 2, G1 to S and G2 to M Cyclin dependent kinases 496 1986-01-01 2009-12-16 2016-06-08 2016-06-08 983 ENSG00000170312 OTTHUMG00000018290 uc001jld.3 BC014563 NM_001786 "CCDS44408|CCDS7260" P06493 "3553962|19884882" MGI:88351 RGD:2319 116940 objectId:1961 HGNC:1722 "ENST00000395284.8|NM_001786.5" +HGNC:1771 CDK2 cyclin dependent kinase 2 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 Cyclin dependent kinases 496 1992-02-28 2016-06-08 2016-06-10 1017 ENSG00000123374 OTTHUMG00000170575 uc001sit.5 M68520 NM_001290230 "CCDS8898|CCDS76567|CCDS8899" P24941 "1717994|8275715" MGI:104772 RGD:70486 116953 objectId:1973 HGNC:1771 "ENST00000266970.9|NM_001798.5" +HGNC:14002 CDK2AP1 cyclin dependent kinase 2 associated protein 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "DORC1|doc-1|DOC1|ST19|p12DOC-1" CDK2-associated protein 1 2001-06-21 2016-06-08 2016-10-05 8099 ENSG00000111328 OTTHUMG00000168854 uc001ueq.5 AB006077 NM_004642 "CCDS9245|CCDS58289" O14519 "9331572|9506968" MGI:1202069 RGD:1308664 602198 HGNC:14002 "ENST00000261692.7|NM_004642.4" +HGNC:30833 CDK2AP2 cyclin dependent kinase 2 associated protein 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "DOC-1R|p14" tumor suppressor deleted in oral cancer related 1 CDK2-associated protein 2 2005-04-07 2016-06-08 2016-10-05 10263 ENSG00000167797 OTTHUMG00000167676 uc001oma.5 AF089814 NM_005851 CCDS8169 O75956 10082655 MGI:1098779 RGD:1588883 HGNC:30833 "ENST00000301488.8|NM_005851.5" +HGNC:38492 CDK2AP2P1 cyclin dependent kinase 2 associated protein 2 pseudogene 1 pseudogene pseudogene Approved 9p11.2 09p11.2 2010-05-18 2016-06-08 2016-06-08 100289027 ENSG00000278647 OTTHUMG00000188454 NG_021654 PGOHUM00000304212 HGNC:38492 +HGNC:38493 CDK2AP2P2 cyclin dependent kinase 2 associated protein 2 pseudogene 2 pseudogene pseudogene Approved 9q13 09q13 2010-05-18 2016-06-08 2016-10-05 107133486 ENSG00000237451 OTTHUMG00000013292 NG_046643 PGOHUM00000304251 HGNC:38493 +HGNC:38494 CDK2AP2P3 cyclin dependent kinase 2 associated protein 2 pseudogene 3 pseudogene pseudogene Approved 9q13 09q13 2010-05-18 2016-06-08 2016-06-08 401525 ENSG00000226020 OTTHUMG00000058678 NG_006137 PGOHUM00000236171 HGNC:38494 +HGNC:1772 CDK3 cyclin dependent kinase 3 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 Cyclin dependent kinases 496 1994-02-14 2016-06-08 2016-06-08 1018 ENSG00000250506 OTTHUMG00000154861 uc060kgl.1 X66357 NM_001258 CCDS11736 Q00526 1639063 MGI:1916931 123828 objectId:1975 HGNC:1772 "ENST00000448471.3|NM_001258.4" +HGNC:1773 CDK4 cyclin dependent kinase 4 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 PSK-J3 "Cyclin dependent kinases|MicroRNA protein coding host genes" "496|1691" 1993-07-28 2016-06-08 2021-05-26 1019 ENSG00000135446 OTTHUMG00000170382 uc001spv.4 M14505 NM_000075 CCDS8953 P11802 8275715 MGI:88357 RGD:621120 LRG_490|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_490.xml CDK4 123829 119289 objectId:1976 HGNC:1773 "ENST00000257904.11|NM_000075.4" HGNC:1773 +HGNC:19040 CDK4P1 cyclin dependent kinase 4 pseudogene 1 pseudogene pseudogene Approved 1p21.1 01p21.1 CDK4PS cyclin dependent kinase 4 pseudogene 2003-07-21 2016-06-10 2016-06-10 2016-06-13 359941 ENSG00000225036 OTTHUMG00000011002 NG_006109 PGOHUM00000296432 HGNC:19040 +HGNC:1774 CDK5 cyclin dependent kinase 5 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 PSSALRE Cyclin dependent kinases 496 1993-07-28 2016-06-08 2021-05-26 1020 ENSG00000164885 OTTHUMG00000158414 uc003wir.3 X66364 NM_001164410 "CCDS55184|CCDS47748" Q00535 "8275715|1639063" MGI:101765 RGD:70514 123831 objectId:1977 HGNC:1774 "ENST00000485972.6|NM_004935.4" HGNC:1774 +HGNC:21261 CDK5P1 cyclin dependent kinase 5 pseudogene 1 pseudogene pseudogene Approved 8q24.13 08q24.13 CDK5PS cyclin dependent kinase 5 pseudogene 2003-07-21 2016-06-10 2016-06-10 2016-06-10 392265 ENSG00000235165 OTTHUMG00000133575 NG_022432 PGOHUM00000303668 HGNC:21261 +HGNC:1775 CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "p35nck5a|Nck5a|p35" cyclin-dependent kinase 5, regulatory subunit 1 (p35) 1999-03-08 2016-06-08 2016-10-05 8851 ENSG00000176749 OTTHUMG00000132814 uc002hhn.4 X80343 NM_003885 CCDS11273 Q15078 8090221 MGI:101764 RGD:629472 603460 HGNC:1775 "ENST00000313401.4|NM_003885.3" +HGNC:1776 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 protein-coding gene gene with protein product Approved 2q35 02q35 "p39nck5ai|P39|NCK5AI" neuronal CDK5 activator isoform cyclin-dependent kinase 5, regulatory subunit 2 (p39) 1999-03-08 2016-06-08 2016-06-08 8941 ENSG00000171450 OTTHUMG00000133083 uc002vjf.5 U34051 NM_003936 CCDS2427 Q13319 7592934 MGI:1330828 RGD:1562530 603764 HGNC:1776 "ENST00000302625.6|NM_003936.5" +HGNC:55677 CDK5R2-AS1 CDK5R2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2021-07-01 2021-07-01 121847983 ENSG00000235024 +HGNC:15880 CDK5RAP1 CDK5 regulatory subunit associated protein 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "CGI-05|HSPC167|C42" C20orf34 chromosome 20 open reading frame 34 Radical S-adenosylmethionine domain containing 2036 2001-06-21 2002-07-26 2002-07-22 2014-11-19 51654 ENSG00000101391 OTTHUMG00000032256 uc002wyz.5 AF152097 NM_016408 "CCDS63255|CCDS13219" Q96SZ6 "10721722|11882646|15329498" MGI:1914221 RGD:708387 608200 HGNC:15880 "ENST00000346416.7|NM_016408.4" +HGNC:18672 CDK5RAP2 CDK5 regulatory subunit associated protein 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "C48|FLJ10867|CEP215" centrosomin MCPH3 microcephaly, primary autosomal recessive 3 2002-07-22 2016-10-05 55755 ENSG00000136861 OTTHUMG00000021043 uc004bkf.5 BK005504 NM_018249 "CCDS75888|CCDS43871|CCDS6823" Q96SN8 "10721722|17764569|24466316" MGI:2384875 RGD:708451 608201 119292 HGNC:18672 "ENST00000349780.9|NM_018249.6" HGNC:18672 +HGNC:18673 CDK5RAP3 CDK5 regulatory subunit associated protein 3 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "MST016|FLJ13660|C53|IC53|HSF-27|OK/SW-cl.114|LZAP" "ischemic heart CDK5 activator-binding protein C53|LXXLL/leucine-zipper-containing ARFbinding protein" 2002-07-22 2016-10-05 80279 ENSG00000108465 OTTHUMG00000178682 uc002imr.5 AF110322 NM_176096 "CCDS62232|CCDS42356" Q96JB5 10721722 MGI:1933126 RGD:620002 608202 HGNC:18673 "ENST00000338399.9|NM_176096.3" +HGNC:1777 CDK6 cyclin dependent kinase 6 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 PLSTIRE Cyclin dependent kinases 496 1994-02-14 2016-06-08 2021-05-26 1021 ENSG00000105810 OTTHUMG00000131697 uc011khw.2 NM_001145306 CCDS5628 Q00534 1639063 MGI:1277162 RGD:621121 LRG_991|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_991.xml CDK6 603368 377025 objectId:1978 HGNC:1777 "ENST00000424848.3|NM_001145306.2" HGNC:1777 +HGNC:40141 CDK6-AS1 CDK6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.2 07q21.2 BALR-2 B-ALL associated long RNA-2 Antisense RNAs 1987 2019-07-24 2019-09-18 101927497 ENSG00000237819 OTTHUMG00000155818 NR_110086 25681502 MGI:5595629 HGNC:40141 +HGNC:1778 CDK7 cyclin dependent kinase 7 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "CAK1|CDKN7|MO15|STK1|CAK" "cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)|cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)" "Cyclin dependent kinases|CDK activating kinase complex" "496|1744" 1994-12-16 2016-06-08 2016-10-05 1022 ENSG00000134058 OTTHUMG00000099358 uc003jvs.5 NM_001799 "CCDS83002|CCDS3999" P50613 8069918 MGI:102956 RGD:621124 601955 objectId:1979 HGNC:1778 "ENST00000256443.8|NM_001799.4" +HGNC:18614 CDK7P1 cyclin dependent kinase 7 pseudogene 1 pseudogene pseudogene Approved 2q24.1 02q24.1 CDK7PS cyclin dependent kinase 7 pseudogene 2003-07-21 2016-06-10 2016-06-10 2016-06-10 220786 ENSG00000213194 OTTHUMG00000133576 AC016732 NG_001572 PGOHUM00000298200 HGNC:18614 +HGNC:1779 CDK8 cyclin dependent kinase 8 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 K35 cyclin-dependent kinase 8 "Cyclin dependent kinases|Mediator complex" "496|1061" 1998-04-29 2016-06-08 2021-05-26 1024 ENSG00000132964 OTTHUMG00000016617 uc001uqr.2 X85753 NM_001260 CCDS9317 P49336 7568034 MGI:1196224 RGD:1560888 603184 objectId:1980 HGNC:1779 "ENST00000381527.8|NM_001260.3" HGNC:1779 +HGNC:18995 CDK8P1 cyclin dependent kinase 8 pseudogene 1 pseudogene pseudogene Approved 2p25.1 02p25.1 CDK8PS cyclin dependent kinase 8 pseudogene 2003-07-21 2016-06-10 2016-06-10 2020-04-20 100419916 ENSG00000230044 NG_023549 HGNC:18995 +HGNC:52296 CDK8P2 cyclin dependent kinase 8 pseudogene 2 pseudogene pseudogene Approved 2q14.1 02q14.1 2016-06-10 2016-06-10 100287419 ENSG00000227368 OTTHUMG00000153324 NG_021580 PGOHUM00000298647 HGNC:52296 +HGNC:1780 CDK9 cyclin dependent kinase 9 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "PITALRE|C-2k|TAK" CDC2L4 cyclin-dependent kinase 9 (CDC2-related kinase) "Cyclin dependent kinases|P-TEFb complex subunits" "496|1281" 1998-04-29 2016-06-08 2016-10-05 1025 ENSG00000136807 OTTHUMG00000020715 uc004bse.3 L25676 NM_001261 CCDS6879 P50750 "8170997|9356449" MGI:1328368 RGD:1359638 603251 objectId:1981 HGNC:1780 "ENST00000373264.5|NM_001261.4" +HGNC:1770 CDK10 cyclin dependent kinase 10 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 PISSLRE cyclin-dependent kinase (CDC2-like) 10 "Cyclin dependent kinases|Spliceosomal C complex|Spliceosomal P complex" "496|1510|1516" 1998-11-30 2016-06-08 2021-05-26 8558 ENSG00000185324 OTTHUMG00000138049 uc010cio.3 L33264 NM_001098533 "CCDS32514|CCDS10984" Q15131 "8208557|8084611" MGI:2448549 RGD:1304851 603464 objectId:1962 HGNC:1770 "ENST00000353379.12|NM_052988.5" +HGNC:1730 CDK11A cyclin dependent kinase 11A protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "PITSLRE|CDK11-p110|CDK11-p58|CDK11-p46|p58GTA" "CDC2L3|CDC2L2" "cell division cycle 2-like 2|cell division cycle 2-like 2 (PITSLRE proteins)" Cyclin dependent kinases 496 1991-07-12 2009-12-16 2016-06-08 2020-05-15 728642 ENSG00000008128 OTTHUMG00000000703 uc009vks.4 AF067522 NM_024011 "CCDS81254|CCDS44042|CCDS44043|CCDS81253" Q9UQ88 "7920654|9750192|19884882" MGI:88353 116951 objectId:1963 HGNC:1730 "ENST00000404249.8|NM_024011.4" +HGNC:1729 CDK11B cyclin dependent kinase 11B protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "CDK11-p110|CDK11-p58|CDK11-p46" CDC2L1 cell division cycle 2-like 1 (PITSLRE proteins) Cyclin dependent kinases 496 1991-07-12 2009-12-16 2016-06-08 2020-05-15 984 ENSG00000248333 OTTHUMG00000078638 uc031tml.2 AK000081 NM_001787 "CCDS72684|CCDS72682|CCDS72683" P21127 "1774066|14511641|19884882" MGI:88353 RGD:628604 176873 objectId:1964 HGNC:1729 "ENST00000341832.11|NM_033486.3" +HGNC:24224 CDK12 cyclin dependent kinase 12 protein-coding gene gene with protein product Approved 17q12 17q12 "CRK7|CRKR|KIAA0904" CDC2 related protein kinase 7 CRKRS Cdc2-related kinase, arginine/serine-rich Cyclin dependent kinases 496 2005-12-13 2009-12-16 2016-06-08 2021-05-26 51755 ENSG00000167258 OTTHUMG00000133214 uc010cvv.5 AF227198 NM_016507 "CCDS11337|CCDS45666" Q9NYV4 "10048485|11683387|19884882" MGI:1098802 RGD:621111 LRG_1413|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1413.xml CDK12 615514 objectId:1965 HGNC:24224 "ENST00000447079.6|NM_016507.4" HGNC:24224 +HGNC:1733 CDK13 cyclin dependent kinase 13 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "CHED|CDC2L|KIAA1791" cholinesterase-related cell division controller CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller) Cyclin dependent kinases 496 2000-01-18 2009-12-16 2016-06-08 2021-05-26 8621 ENSG00000065883 OTTHUMG00000023726 uc003thh.5 M80629 NM_003718 "CCDS5461|CCDS5462" Q14004 "1731328|19884882" MGI:1916812 RGD:1311226 603309 objectId:1966 HGNC:1733 "ENST00000181839.10|NM_003718.5" HGNC:1733 +HGNC:55407 CDK13-DT CDK13 divergent transcript non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 Divergent transcripts 1990 2021-01-06 2021-01-06 112267983 ENSG00000259826 NR_158201 +HGNC:8883 CDK14 cyclin dependent kinase 14 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 PFTAIRE1 PFTK1 PFTAIRE protein kinase 1 Cyclin dependent kinases 496 1996-07-26 2009-12-16 2016-06-08 2016-10-05 5218 ENSG00000058091 OTTHUMG00000023649 uc003uky.4 NM_012395 "CCDS75626|CCDS5619|CCDS75628|CCDS75627" O94921 "9202329|11313143|19884882" MGI:894318 RGD:1305544 610679 objectId:1967 HGNC:8883 "ENST00000380050.8|NM_001287135.2" +HGNC:14434 CDK15 cyclin dependent kinase 15 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 PFTAIRE2 "ALS2CR7|PFTK2" "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7|PFTAIRE protein kinase 2" Cyclin dependent kinases 496 2001-01-26 2009-12-16 2016-06-08 2016-10-05 65061 ENSG00000138395 OTTHUMG00000132838 uc002uys.4 AB053308 NM_001261435 "CCDS2350|CCDS58747|CCDS58746" Q96Q40 "11586298|16236519|19884882" MGI:3583944 RGD:1306205 616147 objectId:1968 HGNC:14434 "ENST00000652192.3|NM_001366386.2" +HGNC:8749 CDK16 cyclin dependent kinase 16 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "PCTAIRE|PCTAIRE1|PCTGAIRE|FLJ16665" serine/threonine-protein kinase PCTK1 PCTAIRE protein kinase 1 Cyclin dependent kinases 496 1994-02-14 2009-12-16 2016-06-08 2021-05-26 5127 ENSG00000102225 OTTHUMG00000021438 uc004dho.4 NM_006201 "CCDS14276|CCDS55408|CCDS48101" Q00536 "1437147|19884882" MGI:97516 RGD:620584 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCTK1 311550 objectId:1969 HGNC:8749 "ENST00000357227.9|NM_006201.5" HGNC:8749 +HGNC:8750 CDK17 cyclin dependent kinase 17 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 PCTAIRE2 PCTK2 PCTAIRE protein kinase 2 Cyclin dependent kinases 496 1994-04-18 2009-12-16 2016-06-08 2020-01-06 5128 ENSG00000059758 OTTHUMG00000170375 uc001tep.3 NM_002595 "CCDS53819|CCDS9061" Q00537 "9370357|19884882" MGI:97517 RGD:1565593 603440 objectId:1970 HGNC:8750 "ENST00000261211.8|NM_002595.5" +HGNC:8751 CDK18 cyclin dependent kinase 18 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 PCTAIRE3 PCTK3 PCTAIRE protein kinase 3 Cyclin dependent kinases 496 1994-02-14 2009-12-16 2016-06-08 2016-10-05 5129 ENSG00000117266 OTTHUMG00000037203 uc001hcr.4 X66362 NM_002596 "CCDS1454|CCDS44300" Q07002 "1437147|19884882" MGI:97518 RGD:1309523 169190 objectId:1971 HGNC:8751 "ENST00000429964.7|NM_212502.3" +HGNC:19338 CDK19 cyclin dependent kinase 19 protein-coding gene gene with protein product Approved 6q21 06q21 "KIAA1028|bA346C16.3" "CDK11|CDC2L6" "cyclin-dependent kinase (CDC2-like) 11|cell division cycle 2-like 6 (CDK8-like)" "Cyclin dependent kinases|Mediator complex" "496|1061" 2003-04-15 2009-12-16 2016-06-08 2021-05-26 23097 ENSG00000155111 OTTHUMG00000015365 uc003puh.2 AL122055 NM_015076 "CCDS75503|CCDS5085" Q9BWU1 "10470851|19884882" MGI:1925584 RGD:1305435 614720 objectId:1972 HGNC:19338 "ENST00000368911.8|NM_015076.5" HGNC:19338 +HGNC:21420 CDK20 cyclin dependent kinase 20 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 "p42|PNQALRE" CCRK cell cycle related kinase Cyclin dependent kinases 496 2004-05-17 2009-12-16 2016-06-08 2021-11-11 23552 ENSG00000156345 OTTHUMG00000020161 uc004apt.4 AF035013 NM_012119 "CCDS35060|CCDS65075|CCDS6677|CCDS6678|CCDS55324" Q8IZL9 "19884882|16552187" MGI:2145349 RGD:1305219 610076 objectId:1974 HGNC:21420 "ENST00000325303.9|NM_001039803.3" HGNC:21420 +HGNC:21050 CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 FLJ20342 CDK5 regulatory subunit associated protein 1-like 1 Radical S-adenosylmethionine domain containing 2036 2003-05-12 2016-01-28 2016-10-05 54901 ENSG00000145996 OTTHUMG00000014340 uc003ndd.3 AK000349 NM_017774 CCDS4546 Q5VV42 MGI:1921765 RGD:1310246 611259 HGNC:21050 "ENST00000274695.8|NM_017774.3" +HGNC:1781 CDKL1 cyclin dependent kinase like 1 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 KKIALRE cyclin-dependent kinase-like 1 (CDC2-related kinase) Cyclin dependent kinases 496 1999-09-07 2016-01-07 2016-01-07 8814 ENSG00000100490 OTTHUMG00000140290 uc001wxz.5 AF390028 NM_001282236 CCDS73637 Q00532 "1639063|7595554" MGI:1918341 RGD:1305080 603441 objectId:1982 HGNC:1781 "ENST00000395834.6|NM_004196.7" +HGNC:1782 CDKL2 cyclin dependent kinase like 2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "P56|KKIAMRE" cyclin-dependent kinase-like 2 (CDC2-related kinase) Cyclin dependent kinases 496 1999-09-07 2016-01-07 2016-10-05 8999 ENSG00000138769 OTTHUMG00000130103 uc003hiq.4 U35146 NM_003948 "CCDS82933|CCDS3570" Q92772 9000130 MGI:1858227 RGD:1309625 603442 objectId:1983 HGNC:1782 "ENST00000307465.9|NM_001330724.2" +HGNC:15483 CDKL3 cyclin dependent kinase like 3 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 NKIAMRE serine-threonine protein kinase NKIAMRE cyclin-dependent kinase-like 3 Cyclin dependent kinases 496 2001-04-04 2016-01-07 2021-04-13 51265 ENSG00000006837 OTTHUMG00000186341 uc003kzf.5 AF130372 NM_001113575 "CCDS47265|CCDS47264|CCDS75303" Q8IVW4 10463609 MGI:2388268 RGD:619874 LRG_1006|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1006.xml 608459 objectId:1984 2.7.11.22 HGNC:15483 "ENST00000265334.9|NM_001113575.2" +HGNC:19287 CDKL4 cyclin dependent kinase like 4 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 cyclin-dependent kinase-like 4 Cyclin dependent kinases 496 2004-05-24 2016-01-07 2016-11-11 344387 ENSG00000205111 OTTHUMG00000133574 uc002rrm.3 NM_001346911 "CCDS33184|CCDS86834" Q5MAI5 MGI:3587025 RGD:1583704 objectId:1985 HGNC:19287 +HGNC:11411 CDKL5 cyclin dependent kinase like 5 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "EIEE2|CFAP247" STK9 "serine/threonine kinase 9|cyclin-dependent kinase-like 5" "Cyclin dependent kinases|Cilia and flagella associated" "496|1491" 1997-10-27 2002-11-29 2016-01-07 2021-05-26 6792 ENSG00000008086 OTTHUMG00000021214 uc004cyn.4 Y15057 NM_003159 "CCDS14186|CCDS83458" O76039 "9721213|16935860" MGI:1278336 RGD:2324133 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CDKL5 300203 119297 objectId:1986 HGNC:11411 "ENST00000623535.2|NM_001323289.2" HGNC:11411 +HGNC:1784 CDKN1A cyclin dependent kinase inhibitor 1A protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "P21|CIP1|WAF1|SDI1|CAP20|p21CIP1|p21Cip1/Waf1|p21" CDKN1 cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1994-05-24 2016-06-08 2021-05-26 1026 ENSG00000124762 OTTHUMG00000014603 uc021yzc.2 U03106 NM_078467 CCDS4824 P38936 MGI:104556 RGD:69328 116899 293293 HGNC:1784 "ENST00000244741.10|NM_000389.5" +HGNC:42399 CDKN1A-AS1 CDKN1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 p21NAT CDKN1A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-11 2012-08-15 2012-10-12 100861512 BX332409 19008947 +HGNC:1785 CDKN1B cyclin dependent kinase inhibitor 1B protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "KIP1|P27KIP1" cyclin-dependent kinase inhibitor 1B (p27, Kip1) 1995-09-14 2016-06-08 2021-05-26 1027 ENSG00000111276 OTTHUMG00000149914 uc001rat.3 AF480891 NM_004064 CCDS8653 P46527 8033212 MGI:104565 RGD:69062 CDKN1B 600778 200995 HGNC:1785 "ENST00000228872.9|NM_004064.5" HGNC:1785 +HGNC:1786 CDKN1C cyclin dependent kinase inhibitor 1C protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "P57|KIP2" "BWCR|BWS" "Beckwith-Wiedemann syndrome|cyclin-dependent kinase inhibitor 1C (p57, Kip2)" 1995-09-14 2016-06-08 2021-05-26 1028 ENSG00000129757 OTTHUMG00000010040 uc001lws.5 D64137 NM_000076 "CCDS44519|CCDS7738|CCDS86169" P49918 7729684 MGI:104564 RGD:727892 LRG_533|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_533.xml 600856 119300 HGNC:1786 "ENST00000440480.8|NM_001122630.2" HGNC:1786 +HGNC:1787 CDKN2A cyclin dependent kinase inhibitor 2A protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "CDK4I|p16|INK4a|MTS1|CMM2|ARF|p19|p14|INK4|p16INK4a|p19Arf|p14ARF" "CDKN2|MLM" cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) 1994-05-19 2016-06-08 2021-05-26 1029 ENSG00000147889 OTTHUMG00000019686 uc003zpk.4 L27211 NM_000077 "CCDS6511|CCDS6510|CCDS56565|CCDS87644" "P42771|Q8N726" "8152487|7606716" MGI:104738 RGD:2323 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CDKN2A|LRG_11|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_11.xml" CDKN2A 600160 119306 HGNC:1787 "ENST00000304494.10|NM_000077.5" HGNC:1787 +HGNC:23831 CDKN2A-DT CDKN2A divergent transcript non-coding RNA RNA, long non-coding Approved 9p21.3 09p21.3 bA149I2.3 "C9orf53|CDKN2A-AS1" "chromosome 9 open reading frame 53|CDKN2A antisense RNA 1 (head to head)" Divergent transcripts 1990 2004-07-23 2018-03-22 2018-03-22 2018-03-22 51198 ENSG00000224854 OTTHUMG00000019687 AF211119 NR_024274 Q9UH64 CDKN2A-AS1 HGNC:23831 +HGNC:24325 CDKN2AIP CDKN2A interacting protein protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "FLJ20036|CARF" collaborates/cooperates with ARF (alternate reading frame) protein 2006-11-17 2014-11-19 55602 ENSG00000168564 OTTHUMG00000160626 uc003ivp.2 AK000043 NM_017632 "CCDS82979|CCDS34110" Q9NXV6 "12154087|16803988" MGI:1918175 RGD:1305302 615914 HGNC:24325 "ENST00000504169.2|NM_017632.4" +HGNC:30545 CDKN2AIPNL CDKN2A interacting protein N-terminal like protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "MGC13017|C2AIL" 2007-08-16 2019-02-18 91368 ENSG00000237190 OTTHUMG00000129123 uc011cxs.3 BC008293 NM_080656 CCDS4175 Q96HQ2 26779609 MGI:1261797 RGD:1308696 HGNC:30545 "ENST00000458198.3|NM_080656.3" +HGNC:39854 CDKN2AIPNLP1 CDKN2A interacting protein N-terminal like pseudogene 1 pseudogene pseudogene Approved 1q42.12 01q42.12 2011-04-05 2011-04-06 2011-04-06 391169 ENSG00000177770 OTTHUMG00000037585 NG_028305 PGOHUM00000244458 HGNC:39854 +HGNC:39855 CDKN2AIPNLP2 CDKN2A interacting protein N-terminal like pseudogene 2 pseudogene pseudogene Approved 2p23.3 02p23.3 2011-04-05 2011-04-05 100128579 ENSG00000145835 OTTHUMG00000151989 NG_028941 PGOHUM00000240000 HGNC:39855 +HGNC:39853 CDKN2AIPNLP3 CDKN2A interacting protein N-terminal like pseudogene 3 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-04-05 2011-04-05 2014-02-12 100874397 ENSG00000224351 OTTHUMG00000016769 NG_032361 PGOHUM00000248373 HGNC:39853 +HGNC:1788 CDKN2B cyclin dependent kinase inhibitor 2B protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "P15|MTS2|INK4B|TP15|CDK4I|p15INK4b" cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 1995-06-14 2016-06-08 2021-05-26 1030 ENSG00000147883 OTTHUMG00000019691 uc003zpo.4 AB060808 NM_004936 "CCDS6512|CCDS6513" P42772 8078588 MGI:104737 RGD:2324 600431 293303 HGNC:1788 "ENST00000276925.7|NM_004936.4" HGNC:1788 +HGNC:34341 CDKN2B-AS1 CDKN2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p21.3 09p21.3 "ANRIL|RP11-145E5.4|NCRNA00089|p15AS|CDKN2B-AS|PCAT12" "antisense RNA in the INK4 locus|non-protein coding RNA 89|p15 antisense RNA|CDKN2B antisense RNA (non-protein coding)|prostate cancer associated transcript 12" CDKN2BAS CDKN2B antisense RNA (non-protein coding) Antisense RNAs 1987 2008-11-25 2012-01-25 2012-08-15 2017-03-10 100048912 ENSG00000240498 OTTHUMG00000019689 uc010miz.4 BC038540 NR_003529 "18048406|17440112|21532571|23416462" 613149 ANRIL CDKN2B-AS1 HGNC:34341 +HGNC:1789 CDKN2C cyclin dependent kinase inhibitor 2C protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "INK4C|p18" cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) Ankyrin repeat domain containing 403 1995-07-06 2016-06-08 2021-05-26 1031 ENSG00000123080 OTTHUMG00000008046 uc057gkh.1 BC000598 NM_001262 CCDS555 P42773 "8001816|9636670" MGI:105388 RGD:2325 CDKN2C 603369 293311 HGNC:1789 "ENST00000371761.4|NM_078626.3" +HGNC:1790 CDKN2D cyclin dependent kinase inhibitor 2D protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "INK4D|p19" cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) Ankyrin repeat domain containing 403 1995-07-06 2016-06-08 2016-10-05 1032 ENSG00000129355 OTTHUMG00000180583 uc002mpa.4 NM_079421 CCDS12244 P55273 8575754 MGI:105387 600927 328932 HGNC:1790 "ENST00000393599.3|NM_001800.4" +HGNC:1791 CDKN3 cyclin dependent kinase inhibitor 3 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "KAP|CDI1" "kinase associated phosphatase|cyclin-dependent kinase inhibitor|CDK2-associated dual specificity phosphatase" CDC14 phosphatases 900 1994-07-04 2016-06-08 2016-10-05 1033 ENSG00000100526 OTTHUMG00000140302 uc001xap.4 U02681 NM_001130851 "CCDS9716|CCDS45109|CCDS81804" Q16667 "8242750|7698009" MGI:1919641 RGD:1307781 123832 HGNC:1791 "ENST00000335183.11|NM_005192.4" +HGNC:24913 CDNF cerebral dopamine neurotrophic factor protein-coding gene gene with protein product Approved 10p13 10p13 conserved dopamine neurotrophic factor ARMETL1 arginine-rich, mutated in early stage tumors-like 1 2004-05-27 2009-06-04 2009-06-04 2015-09-11 441549 ENSG00000185267 OTTHUMG00000017713 uc001inb.3 BC037872 NM_001029954 CCDS31148 Q49AH0 17611540 MGI:3606576 RGD:1307600 611233 HGNC:24913 "ENST00000465530.2|NM_001029954.3" +HGNC:1795 CDO1 cysteine dioxygenase type 1 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 cysteine dioxygenase, type I 1996-09-13 2013-06-11 2016-10-05 1036 ENSG00000129596 OTTHUMG00000128891 uc003krg.4 NM_001801 CCDS4121 Q16878 7524679 MGI:105925 RGD:69262 603943 1.13.11.20 HGNC:1795 "ENST00000250535.5|NM_001801.3" +HGNC:17104 CDON cell adhesion associated, oncogene regulated protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "ORCAM|CDO|CDON1|Ihog" cell adhesion molecule-related/down-regulated by oncogenes Cdon homolog (mouse) "Fibronectin type III domain containing|I-set domain containing" "555|593" 2001-11-02 2012-12-07 2021-05-26 50937 ENSG00000064309 OTTHUMG00000165862 uc001qdc.5 AF004841 NM_016952 "CCDS8468|CCDS58192" Q4KMG0 9214393 MGI:1926387 RGD:708433 608707 279776 HGNC:17104 "ENST00000531738.6|NM_001378964.1" HGNC:17104 +HGNC:33710 CDPF1 cysteine rich DPF motif domain containing 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 LOC150383 C22orf40 "chromosome 22 open reading frame 40|cysteine-rich, DPF motif domain containing 1|cysteine rich, DPF motif domain containing 1" 2008-07-02 2012-07-18 2016-04-05 2016-04-05 150383 ENSG00000205643 OTTHUMG00000030672 uc003bhe.4 NM_207327 CCDS33670 Q6NVV7 MGI:1919605 RGD:1306001 HGNC:33710 "ENST00000314567.8|NM_207327.5" +HGNC:54763 CDPF1P1 CDPF1 pseudogene 1 pseudogene pseudogene Approved 2p16.1 02p16.1 2020-01-08 2020-01-21 100128027 ENSG00000227799 NG_030291 +HGNC:1798 CDR1 cerebellar degeneration related protein 1 other unknown Approved Xq27.1 Xq27.1 "CDR62A|CDR34" Cerebellar degeneration-related protein-1 (34kD) CDR "cerebellar degeneration-related protein (34kD)|cerebellar degeneration-related protein 1, 34kDa" 1991-08-21 2015-11-09 2021-09-08 1038 ENSG00000288642 OTTHUMG00000137398 uc004fbg.2 NM_004065 CCDS14670 P51861 2326268 MGI:88359 RGD:6499092 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CDR1 302650 HGNC:1798 +HGNC:48926 CDR1-AS CDR1 antisense RNA non-coding RNA RNA, long non-coding Approved Xq27.1 Xq27.1 "CDR1NAT|ciRS-7|CDR1as" "CDR1 natural antisense transcript|circular RNA sponge for miR-7" Antisense RNAs 1987 2013-07-04 2014-10-22 103611090 OTTHUMG00000189747 AK054921 "23446346|23446348|21964070" 300898 cdr1as +HGNC:1799 CDR2 cerebellar degeneration related protein 2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "CDR62|Yo" Yo paraneoplastic antigen "cerebellar degeneration-related protein (62kD)|cerebellar degeneration-related protein 2, 62kDa" 1991-08-21 2015-11-09 2019-04-16 1039 ENSG00000140743 OTTHUMG00000175463 uc002dkn.3 M63256 NM_001802 CCDS32404 Q01850 2014264 MGI:1100885 RGD:1310578 117340 HGNC:1799 "ENST00000268383.7|NM_001802.2" +HGNC:55381 CDR2-DT CDR2 divergent transcript non-coding RNA RNA, long non-coding Approved 16p12.2 16p12.2 Divergent transcripts 1990 2020-11-12 2020-11-12 440346 ENSG00000260790 NR_148970 +HGNC:29999 CDR2L cerebellar degeneration related protein 2 like protein-coding gene gene with protein product Approved 17q25.1 17q25.1 HUMPPA paraneoplastic antigen cerebellar degeneration-related protein 2-like 2005-11-14 2016-03-31 2016-03-31 30850 ENSG00000109089 OTTHUMG00000150435 uc002jml.5 NM_014603 CCDS11710 Q86X02 MGI:2684867 RGD:1306881 HGNC:29999 "ENST00000337231.5|NM_014603.3" +HGNC:14381 CDRT2 CMT1A duplicated region transcript 2 other unknown Approved 17p12 17p12 2001-02-28 2019-03-06 94144 11381029 +HGNC:14382 CDRT3 CMT1A duplicated region transcript 3 non-coding RNA RNA, long non-coding Approved 17p12 17p12 Long non-coding RNAs with non-systematic symbols 1992 2001-02-28 2019-03-06 94145 AI220446 NR_146601 11381029 HGNC:14382 +HGNC:14383 CDRT4 CMT1A duplicated region transcript 4 protein-coding gene gene with protein product Approved 17p12 17p12 FLJ36674 2001-03-01 2015-08-24 284040 ENSG00000239704 OTTHUMG00000059070 uc032eur.1 BC029542 NM_173622 CCDS73995 Q8N9R6 11381029 MGI:1913588 RGD:2323961 HGNC:14383 "ENST00000619038.5|NM_001204477.2" +HGNC:14384 CDRT5 CMT1A duplicated region transcript 5 other unknown Approved 17p12 17p12 2001-02-28 2019-03-06 94148 11381029 +HGNC:14386 CDRT7 CMT1A duplicated region transcript 7 non-coding RNA RNA, long non-coding Approved 17p12 17p12 "NCRNA00025|LINC00025" "non-protein coding RNA 25|long intergenic non-protein coding RNA 25" CMT1A duplicated region transcript 7 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2001-02-28 2018-05-16 2018-05-16 94150 ENSG00000259944 OTTHUMG00000058961 uc021tqj.1 "BX093265|AI218510" NR_033371 11381029 CDRT7 HGNC:14386 +HGNC:14387 CDRT8 CMT1A duplicated region transcript 8 non-coding RNA RNA, long non-coding Approved 17p12 17p12 Long non-coding RNAs with non-systematic symbols 1992 2001-02-28 2014-10-06 94151 ENSG00000265163 OTTHUMG00000178871 uc032eum.2 "AI150443|CR737651|AA432141|AA431126" NR_103559 11381029 CDRT8 HGNC:14387 +HGNC:14390 CDRT10 CMT1A duplicated region transcript 10 other unknown Approved 17p12 17p12 2001-02-28 2008-07-17 94153 11381029 +HGNC:14391 CDRT11 CMT1A duplicated region transcript 11 other unknown Approved 17p12 17p12 2001-02-28 2008-07-17 94154 11381029 +HGNC:14392 CDRT12 CMT1A duplicated region transcript 12 other unknown Approved 17p12 17p12 2001-02-28 2008-07-03 94155 11381029 +HGNC:14393 CDRT13 CMT1A duplicated region transcript 13 other unknown Approved 17p12 17p12 2001-02-28 2008-07-17 94156 11381029 +HGNC:14395 CDRT15 CMT1A duplicated region transcript 15 protein-coding gene gene with protein product Approved 17p12 17p12 2001-02-28 2014-11-19 146822 ENSG00000223510 OTTHUMG00000179686 uc010vvu.3 AF355097 NM_001007530 "CCDS32569|CCDS86577" Q96T59 11381029 RGD:7654081 HGNC:14395 "ENST00000420162.7|NM_001007530.3" +HGNC:34075 CDRT15L2 CMT1A duplicated region transcript 15 like 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 2008-04-14 2017-02-21 2017-02-21 256223 ENSG00000214819 OTTHUMG00000059557 uc021tsn.1 NM_001190790 CCDS54096 A8MXV6 RGD:1559804 HGNC:34075 "ENST00000399044.1|NM_001190790.2" +HGNC:33168 CDRT15P1 CDRT15 pseudogene 1 pseudogene pseudogene Approved 17p12 17p12 CDRT15P "CMT1A duplicated region transcript 15 pseudogene|CMT1A duplicated region transcript 15 pseudogene 1" 2006-11-08 2011-09-06 2020-04-24 2020-04-24 94158 ENSG00000141028 OTTHUMG00000178372 BX118788 NR_003261 PGOHUM00000294272 HGNC:33168 +HGNC:34074 CDRT15P2 CDRT15 pseudogene 2 pseudogene pseudogene Approved 17p12 17p12 CDRT15L1 "CMT1A duplicated region transcript 15-like 1|CMT1A duplicated region transcript 15 pseudogene 2" 2008-04-14 2011-09-06 2020-04-24 2020-04-24 644694 ENSG00000227255 OTTHUMG00000059141 NR_033865 PGOHUM00000237231 HGNC:34074 +HGNC:33824 CDRT15P3 CDRT15 pseudogene 3 pseudogene pseudogene Approved 2q21.2 02q21.2 MGC50273 C2orf27B chromosome 2 open reading frame 27B 2009-04-02 2020-04-24 2020-04-24 2020-04-24 408029 ENSG00000186825 OTTHUMG00000154614 uc002ttg.2 BC043584 NR_161366 P0DPF6 HGNC:33824 +HGNC:54913 CDRT15P4 CDRT15 pseudogene 4 pseudogene pseudogene Approved 2q21.2 02q21.2 2020-04-24 2020-04-29 117314529 ENSG00000287071 NG_068359 +HGNC:49813 CDRT15P5 CDRT15 pseudogene 5 pseudogene pseudogene Approved 9p21.1 09p21.1 C2orf27AP2 chromosome 2 open reading frame 27A pseudogene 2 2014-03-06 2020-04-24 2020-04-24 2020-04-24 100131855 ENSG00000239792 OTTHUMG00000019725 NG_021611 PGOHUM00000303764 HGNC:49813 +HGNC:54914 CDRT15P6 CDRT15 pseudogene 6 pseudogene pseudogene Approved 9p11.2 09p11.2 2020-04-24 2020-04-24 100420778 ENSG00000276832 NG_023824 +HGNC:54915 CDRT15P7 CDRT15 pseudogene 7 pseudogene pseudogene Approved 9q13 09q13 2020-04-24 2020-04-24 100420788 ENSG00000268951 NG_023922 +HGNC:54916 CDRT15P8 CDRT15 pseudogene 8 pseudogene pseudogene Approved 21p11.2 21p11.2 2020-04-24 2020-04-24 100420925 ENSG00000279062 NG_025051 +HGNC:54917 CDRT15P9 CDRT15 pseudogene 9 pseudogene pseudogene Approved 21p11.2 21p11.2 2020-04-24 2020-04-24 105372731 ENSG00000279414 +HGNC:38413 CDRT15P10 CDRT15 pseudogene 10 pseudogene pseudogene Approved Yq11.21 Yq11.21 C2orf27AP1 chromosome 2 open reading frame 27A pseudogene 1 2010-05-11 2020-04-24 2020-04-24 2020-04-24 100420811 ENSG00000273693 OTTHUMG00000188061 NG_021911 PGOHUM00000305467 HGNC:38413 +HGNC:54918 CDRT15P11 CDRT15 pseudogene 11 pseudogene pseudogene Approved 4q28.2 04q28.2 2020-04-24 2020-04-24 100127912 ENSG00000251345 NG_022077 +HGNC:54919 CDRT15P12 CDRT15 pseudogene 12 pseudogene pseudogene Approved 9q21.11 09q21.11 2020-04-24 2020-04-24 100420789 ENSG00000233765 NG_023925 +HGNC:54920 CDRT15P13 CDRT15 pseudogene 13 pseudogene pseudogene Approved 14q11.2 14q11.2 2020-04-24 2020-04-24 642669 ENSG00000258781 NG_022851 +HGNC:50418 CDRT15P14 CDRT15 pseudogene 14 pseudogene pseudogene Approved 9p11.2 09p11.2 C2orf27AP3 chromosome 2 open reading frame 27A pseudogene 3 2014-04-25 2020-04-24 2020-04-24 2020-04-24 100420784 ENSG00000230804 OTTHUMG00000013281 NG_023900 PGOHUM00000304193 HGNC:50418 +HGNC:1800 CDS1 CDP-diacylglycerol synthase 1 protein-coding gene gene with protein product Approved 4q21.23 04q21.23 phosphatidate cytidylyltransferase 1998-07-03 2015-11-13 2016-10-05 1040 ENSG00000163624 OTTHUMG00000130428 uc011ccv.3 U65887 NM_001263 CCDS3608 Q92903 "9806839|9115637" MGI:1921846 RGD:621185 603548 2.7.7.41 HGNC:1800 "ENST00000295887.6|NM_001263.4" +HGNC:1801 CDS2 CDP-diacylglycerol synthase 2 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 phosphatidate cytidylyltransferase 2 1998-12-21 2015-11-13 2016-10-05 8760 ENSG00000101290 OTTHUMG00000031801 uc002wls.4 AF069532 NM_003818 CCDS13088 O95674 "9806839|9889000" MGI:1332236 RGD:621186 603549 2.7.7.41 HGNC:1801 "ENST00000460006.6|NM_003818.4" +HGNC:1802 CDSN corneodesmosin protein-coding gene gene with protein product Approved 6p21.33 06p21.33 D6S586E 1998-05-14 2021-05-26 1041 ENSG00000204539 OTTHUMG00000031150 uc011fbm.3 AF030130 NM_001264 CCDS34389 Q15517 "9395522|8415725" MGI:3505689 RGD:1598543 602593 119324 HGNC:1802 "ENST00000376288.3|NM_001264.5" HGNC:1802 +HGNC:24576 CDT1 chromatin licensing and DNA replication factor 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "DUP|RIS2" 2006-05-25 2014-11-19 81620 ENSG00000167513 OTTHUMG00000173467 uc002flu.4 AF070552 NM_030928 CCDS32510 Q9H211 "11896191|11555648" MGI:1914427 RGD:1309211 605525 260341 HGNC:24576 "ENST00000301019.9|NM_030928.4" HGNC:24576 +HGNC:26928 CDV3 CDV3 homolog protein-coding gene gene with protein product Approved 3q22.1 03q22.1 H41 carnitine deficiency-associated gene expressed in ventricle 3 (mouse) CDV3 homolog (mouse) 2006-01-09 2016-04-27 2016-04-27 55573 ENSG00000091527 OTTHUMG00000159764 uc003epq.4 AK096865 NM_017548 "CCDS75015|CCDS46917|CCDS75014|CCDS46918|CCDS75013|CCDS3079" Q9UKY7 10497265 MGI:2448759 RGD:1359113 618789 HGNC:26928 "ENST00000264993.8|NM_017548.5" +HGNC:42387 CDV3P1 CDV3 pseudogene 1 pseudogene pseudogene Approved 3q11.2 03q11.2 CDV3 homolog (mouse) pseudogene 1 2011-07-05 2014-07-02 2014-11-19 100129736 ENSG00000176243 OTTHUMG00000159188 NG_022257 PGOHUM00000238102 HGNC:42387 +HGNC:1805 CDX1 caudal type homeobox 1 protein-coding gene gene with protein product Approved 5q32 05q32 caudal type homeo box transcription factor 1 HOXL subclass homeoboxes 518 1995-05-05 2007-07-09 2021-05-26 1044 ENSG00000113722 OTTHUMG00000169772 uc003lrq.4 U51095 NM_001804 CCDS4304 P47902 8530027 MGI:88360 RGD:621233 600746 8422 HGNC:1805 "ENST00000231656.13|NM_001804.3" +HGNC:1806 CDX2 caudal type homeobox 2 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 CDX3 caudal type homeo box transcription factor 2 HOXL subclass homeoboxes 518 1994-09-07 2007-07-09 2021-05-26 1045 ENSG00000165556 OTTHUMG00000016640 uc001urv.5 Y13709 NM_001265 CCDS9328 Q99626 7698771 MGI:88361 RGD:621234 CDX2 600297 8423 HGNC:1806 "ENST00000381020.8|NM_001265.6" +HGNC:1808 CDX4 caudal type homeobox 4 protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 caudal type homeo box transcription factor 4 HOXL subclass homeoboxes 518 1995-06-14 2007-07-09 2014-11-18 1046 ENSG00000131264 OTTHUMG00000021831 uc011mqk.3 AF029879 NM_005193 CCDS14424 O14627 7655457 MGI:88362 RGD:1561529 300025 8424 HGNC:1808 "ENST00000373514.3|NM_005193.2" +HGNC:1809 CDY1 chromodomain Y-linked 1 protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 CDY1A chromodomain protein, Y chromosome, 1 1999-03-02 2016-07-14 2016-10-05 9085 ENSG00000172288 OTTHUMG00000045274 uc004fxe.4 AF000981 NM_170723 "CCDS14802|CCDS14801" Q9Y6F8 9381176 400016 2.3.1.48 HGNC:1809 +HGNC:23920 CDY1B chromodomain Y-linked 1B protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 chromodomain protein, Y-linked, 1B 2004-08-25 2016-07-14 2016-10-05 253175 ENSG00000172352 OTTHUMG00000045037 uc004fwa.4 NM_001003894 "CCDS35486|CCDS35487" Q9Y6F8 "9381176|10192397" HGNC:23920 "ENST00000382407.1|NM_001003894.2" +HGNC:1810 CDY2A chromodomain Y-linked 2A protein-coding gene gene with protein product Approved Yq11.222 Yq11.222 CDY2 "chromodomain protein, Y chromosome, 2|chromodomain protein, Y-linked, 2" 1999-04-07 2005-12-16 2016-07-14 2016-07-14 9426 ENSG00000182415 OTTHUMG00000041657 uc004ftm.2 AF080598 NM_004825 CCDS14789 Q9Y6F7 10192397 400018 HGNC:1810 "ENST00000250838.6|NM_004825.2" +HGNC:23921 CDY2B chromodomain Y-linked 2B protein-coding gene gene with protein product Approved Yq11.222 Yq11.222 CDY chromodomain protein, Y-linked, 2B 2005-12-16 2016-07-14 2016-07-14 203611 ENSG00000129873 OTTHUMG00000041652 uc004ftl.2 BC069087 NM_001001722 CCDS35473 Q9Y6F7 "9381176|10192397" MGI:1339956 HGNC:23921 "ENST00000382867.4|NM_001001722.2" +HGNC:23849 CDY3P chromodomain Y-linked 3 pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2003-12-17 2016-07-14 2016-07-14 286556 ENSG00000232235 OTTHUMG00000041411 NG_003131 12815422 PGOHUM00000233699 HGNC:23849 +HGNC:23872 CDY4P chromodomain Y-linked 4 pseudogene pseudogene pseudogene Approved Yq11.221 Yq11.221 2003-12-17 2016-07-14 2016-10-05 386729 ENSG00000228411 OTTHUMG00000036471 NG_003138 12815422 PGOHUM00000233747 HGNC:23872 +HGNC:23850 CDY5P chromodomain Y-linked 5 pseudogene pseudogene pseudogene Approved Yq11.222 Yq11.222 2003-12-17 2016-07-14 2016-10-05 378008 ENSG00000226449 OTTHUMG00000041659 NG_003132 12815422 PGOHUM00000233972 HGNC:23850 +HGNC:23853 CDY6P chromodomain Y-linked 6 pseudogene pseudogene pseudogene Approved Yq11.222 Yq11.222 2003-12-17 2016-07-14 2016-10-05 386730 ENSG00000229138 OTTHUMG00000041653 NG_003139 12815422 PGOHUM00000233765 HGNC:23853 +HGNC:23854 CDY7P chromodomain Y-linked 7 pseudogene pseudogene pseudogene Approved Yq11.222 Yq11.222 2003-12-17 2016-07-14 2016-10-05 386731 ENSG00000237558 OTTHUMG00000041655 NG_003140 12815422 PGOHUM00000233976 HGNC:23854 +HGNC:23855 CDY8P chromodomain Y-linked 8 pseudogene pseudogene pseudogene Approved Yq11.222 Yq11.222 2003-12-17 2016-07-14 2016-10-05 386732 ENSG00000224033 OTTHUMG00000041958 NG_003141 12815422 PGOHUM00000233978 HGNC:23855 +HGNC:23851 CDY9P chromodomain Y-linked 9 pseudogene pseudogene pseudogene Approved Yq11.222 Yq11.222 2003-12-17 2016-07-14 2016-10-05 378011 ENSG00000232899 OTTHUMG00000041963 NG_003133 12815422 PGOHUM00000233770 HGNC:23851 +HGNC:23848 CDY10P chromodomain Y-linked 10 pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2003-12-17 2016-07-14 2016-07-14 140043 ENSG00000226042 OTTHUMG00000043576 NG_003130 12815422 PGOHUM00000233801 HGNC:23848 +HGNC:23852 CDY11P chromodomain protein Y-linked 11 pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2003-12-17 2016-07-14 2016-07-14 378014 ENSG00000230029 OTTHUMG00000043581 NG_003154 12815422 PGOHUM00000234015 HGNC:23852 +HGNC:23856 CDY12P chromodomain Y-linked 12 pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2003-12-17 2016-07-14 2016-07-14 386734 ENSG00000228850 OTTHUMG00000043603 NG_003142 12815422 PGOHUM00000234020 HGNC:23856 +HGNC:23857 CDY13P chromodomain Y-linked 13 pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2003-12-17 2016-07-14 2016-07-14 386735 ENSG00000224873 OTTHUMG00000043848 NG_003143 12815422 PGOHUM00000233814 HGNC:23857 +HGNC:23858 CDY14P chromodomain protein Y-linked 14 pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2003-12-17 2016-07-14 2016-07-14 386736 ENSG00000226873 OTTHUMG00000044995 NG_003144 12815422 PGOHUM00000234041 HGNC:23858 +HGNC:23859 CDY15P chromodomain Y-linked 15 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-10-05 386737 ENSG00000223362 OTTHUMG00000044980 NG_003145 12815422 PGOHUM00000233832 HGNC:23859 +HGNC:23860 CDY16P chromodomain Y-linked 16 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-10-05 386738 NG_003146 12815422 HGNC:23860 +HGNC:23861 CDY17P chromodomain Y-linked 17 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-10-05 386739 ENSG00000231375 OTTHUMG00000045046 NG_003147 12815422 PGOHUM00000233837 HGNC:23861 +HGNC:23862 CDY18P chromodomain Y-linked 18 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-10-05 386740 ENSG00000232205 OTTHUMG00000045040 NG_003148 12815422 PGOHUM00000234051 HGNC:23862 +HGNC:23863 CDY19P chromodomain Y-linked 19 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 chromodomain protein, Y-linked 19 pseudogene 2003-12-17 2016-07-14 2016-10-05 386741 ENSG00000237823 OTTHUMG00000045266 NG_003149 12815422 PGOHUM00000233871 HGNC:23863 +HGNC:23864 CDY20P chromodomain Y-linked 20 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-10-05 386742 ENSG00000225609 OTTHUMG00000045272 NG_003150 12815422 PGOHUM00000234085 HGNC:23864 +HGNC:23865 CDY21P chromodomain Y-linked 21 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-10-05 386743 NG_003151 12815422 HGNC:23865 +HGNC:23866 CDY22P chromodomain Y-linked 22 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-10-05 386744 ENSG00000229343 OTTHUMG00000045287 NG_003152 12815422 PGOHUM00000234090 HGNC:23866 +HGNC:23867 CDY23P chromodomain Y-linked 23 pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2003-12-17 2016-07-14 2016-07-14 386745 ENSG00000231716 OTTHUMG00000045273 NG_003153 12815422 PGOHUM00000233881 HGNC:23867 +HGNC:1811 CDYL chromodomain Y like protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "DKFZP586C1622|CDYL1" "CDY-like, autosomal|testis-specific chromodomain Y-like protein" "chromodomain protein, Y chromosome-like|chromodomain protein, Y-like" 1999-04-07 2017-02-21 2017-02-21 9425 ENSG00000153046 OTTHUMG00000014170 uc003mwj.4 AF081258 NM_004824 "CCDS4491|CCDS47364" Q9Y232 10192397 MGI:1339956 RGD:1549745 603778 HGNC:1811 "ENST00000397588.8|NM_004824.4" +HGNC:40142 CDYL-AS1 CDYL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.1 06p25.1 Antisense RNAs 1987 2019-07-24 2019-07-24 101927913 ENSG00000236336 OTTHUMG00000156967 XR_007059420 HGNC:40142 +HGNC:23030 CDYL2 chromodomain Y like 2 protein-coding gene gene with protein product Approved 16q23.2 16q23.2 FLJ38866 chromodomain Y-like protein 2 2003-08-26 2017-02-21 2017-02-21 124359 ENSG00000166446 OTTHUMG00000177004 uc002ffs.4 AK096185 NM_152342 CCDS32493 Q8N8U2 12837688 MGI:1923046 RGD:1309548 618816 HGNC:23030 "ENST00000570137.7|NM_152342.4" +HGNC:52805 CDYLP1 CDYL pseudogene 1 pseudogene pseudogene Approved 3p24.3 03p24.3 chromodomain Y-like pseudogene 1 2016-12-12 2019-02-19 2019-02-19 100132260 ENSG00000224039 OTTHUMG00000155460 NG_022196 PGOHUM00000298961 HGNC:52805 +HGNC:1814 CEACAM1 CEA cell adhesion molecule 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "BGP1|CD66a" BGP "carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)|carcinoembryonic antigen related cell adhesion molecule 1" "CD molecules|V-set domain containing|CEA cell adhesion molecule family" "471|590|906" 1989-06-30 2019-08-22 2019-08-22 634 ENSG00000079385 OTTHUMG00000151078 uc002otv.3 M72238 NM_001712 "CCDS46089|CCDS54274|CCDS54272|CCDS54273|CCDS12609" P13688 "2457922|2025273" "MGI:1347245|MGI:1347246" RGD:67396 109770 CD66a HGNC:1814 "ENST00000161559.11|NM_001712.5" +HGNC:1815 CEACAM3 CEA cell adhesion molecule 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD66d CGM1 "carcinoembryonic antigen-related cell adhesion molecule 3|carcinoembryonic antigen related cell adhesion molecule 3" "CD molecules|V-set domain containing|CEA cell adhesion molecule family" "471|590|906" 1991-09-12 2019-08-22 2019-08-22 1084 ENSG00000170956 OTTHUMG00000150142 uc032hyd.2 E03349 NM_001815 "CCDS12586|CCDS62685" P40198 MGI:1347248 609142 CD66d HGNC:1815 "ENST00000357396.8|NM_001815.5" +HGNC:1816 CEACAM4 CEA cell adhesion molecule 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CGM7 "carcinoembryonic antigen-related cell adhesion molecule 4|carcinoembryonic antigen related cell adhesion molecule 4" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 1991-09-12 2019-08-22 2019-08-22 1089 ENSG00000105352 OTTHUMG00000151065 uc002orh.1 D90276 NM_001817 CCDS33033 O75871 2050678 "MGI:1347248|MGI:1347249|MGI:1347250|MGI:1347251|MGI:1347252|MGI:1891352|MGI:1891353|MGI:1891354|MGI:1891355|MGI:1891357|MGI:1891358|MGI:1891359|MGI:1891360|MGI:1891361|MGI:1914246|MGI:1914334|MGI:1914565|MGI:1917035" RGD:708435 619159 HGNC:1816 "ENST00000221954.7|NM_001817.4" +HGNC:1817 CEACAM5 CEA cell adhesion molecule 5 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD66e CEA "carcinoembryonic antigen-related cell adhesion molecule 5|carcinoembryonic antigen related cell adhesion molecule 5" "CD molecules|V-set domain containing|I-set domain containing|CEA cell adhesion molecule family" "471|590|593|906" 1986-01-01 2019-08-22 2019-08-22 1048 ENSG00000105388 OTTHUMG00000151061 uc002orl.4 M17303 NM_004363 "CCDS77302|CCDS12584" P06731 "MGI:1347245|MGI:1347246" 114890 objectId:2836 CD66e HGNC:1817 "ENST00000221992.11|NM_004363.6" +HGNC:1818 CEACAM6 CEA cell adhesion molecule 6 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD66c NCA "carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)|carcinoembryonic antigen related cell adhesion molecule 6" "CD molecules|V-set domain containing|CEA cell adhesion molecule family" "471|590|906" 1989-06-30 2019-08-22 2019-08-22 4680 ENSG00000086548 OTTHUMG00000151064 uc032hyc.2 M29541 NM_002483 CCDS12585 P40199 "MGI:1347245|MGI:1347246" RGD:1642421 163980 CD66c HGNC:1818 "ENST00000199764.7|NM_002483.7" +HGNC:1819 CEACAM7 CEA cell adhesion molecule 7 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CEA carcinoembryonic antigen gene family member 2 CGM2 "carcinoembryonic antigen-related cell adhesion molecule 7|carcinoembryonic antigen related cell adhesion molecule 7" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 1991-09-12 2019-08-22 2019-08-22 1087 ENSG00000007306 OTTHUMG00000151063 uc002ori.2 X98311 NM_006890 CCDS12583 Q14002 "7806520|9135022" "MGI:1347245|MGI:1347246|MGI:1347247" RGD:1306754 619160 HGNC:1819 "ENST00000401731.6|NM_001291485.2" +HGNC:1820 CEACAM8 CEA cell adhesion molecule 8 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD66b CGM6 "carcinoembryonic antigen-related cell adhesion molecule 8|carcinoembryonic antigen related cell adhesion molecule 8" "CD molecules|V-set domain containing|CEA cell adhesion molecule family" "471|590|906" 1991-09-12 2019-08-22 2019-08-22 1088 ENSG00000124469 OTTHUMG00000151124 uc002oud.3 D90064 NM_001816 CCDS12610 P31997 "2208113|2306228" MGI:1347246 615747 CD66b HGNC:1820 "ENST00000244336.10|NM_001816.4" +HGNC:31948 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component protein-coding gene gene with protein product Approved 19q13.31-q13.32 19q13.31-q13.32 DFNA4B "carcinoembryonic antigen-related cell adhesion molecule 16|carcinoembryonic antigen related cell adhesion molecule 16" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 2005-07-25 2019-08-22 2021-05-26 388551 ENSG00000213892 OTTHUMG00000151519 uc060zsz.1 NM_001039213 CCDS54278 Q2WEN9 21368133 MGI:2685615 RGD:1306386 LRG_1283|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1283.xml 614591 265505 HGNC:31948 "ENST00000587331.7|NM_001039213.4" HGNC:31948 +HGNC:55317 CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.31 19q13.31 Antisense RNAs 1987 2020-10-19 2020-10-19 107985305 ENSG00000266903 +HGNC:31949 CEACAM18 CEA cell adhesion molecule 18 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "carcinoembryonic antigen-related cell adhesion molecule 18|carcinoembryonic antigen related cell adhesion molecule 18" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 2005-07-25 2019-08-22 2019-08-22 729767 ENSG00000213822 OTTHUMG00000151557 uc061bxs.1 NM_001278392 A8MTB9 MGI:1919681 RGD:1563539 HGNC:31949 +HGNC:31951 CEACAM19 CEA cell adhesion molecule 19 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 CEAL1 "carcinoembryonic antigen-related cell adhesion molecule 19|carcinoembryonic antigen related cell adhesion molecule 19" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 2005-07-25 2019-08-22 2019-08-22 56971 ENSG00000186567 OTTHUMG00000151528 uc002ozo.5 AF406955 NM_020219 "CCDS12641|CCDS46108" Q7Z692 MGI:2443001 RGD:1589436 606691 HGNC:31951 "ENST00000358777.10|NM_001127893.3" +HGNC:24879 CEACAM20 CEA cell adhesion molecule 20 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 UNQ9366 "carcinoembryonic antigen-related cell adhesion molecule 20|carcinoembryonic antigen related cell adhesion molecule 20" "I-set domain containing|CEA cell adhesion molecule family" "593|906" 2005-07-25 2019-08-22 2019-08-22 125931 ENSG00000273777 OTTHUMG00000151532 uc032hzq.1 AY358129 NM_198444 "CCDS74391|CCDS74393|CCDS74392|CCDS74390" Q6UY09 12975309 MGI:1918851 RGD:1311281 HGNC:24879 "ENST00000614924.5|NM_001102597.3" +HGNC:28834 CEACAM21 CEA cell adhesion molecule 21 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "R29124_1|FLJ13540" "carcinoembryonic antigen-related cell adhesion molecule 21|carcinoembryonic antigen related cell adhesion molecule 21" "V-set domain containing|CEA cell adhesion molecule family" "590|906" 2005-07-25 2019-08-22 2019-08-22 90273 ENSG00000007129 OTTHUMG00000151062 uc002ore.5 AK023602 NM_033543 "CCDS74373|CCDS46086|CCDS46087" Q3KPI0 12477932 "MGI:1347247|MGI:1347250|MGI:1347252|MGI:1891353|MGI:1891355|MGI:1891357|MGI:1891358|MGI:1891359|MGI:1891360|MGI:1914246|MGI:1914565|MGI:1917035|MGI:1920500|MGI:2141810|MGI:3646296" RGD:2333 618191 HGNC:28834 "ENST00000401445.4|NM_001098506.4" +HGNC:38029 CEACAM22P CEA cell adhesion molecule 22, pseudogene pseudogene pseudogene Approved 19q13.31 19q13.31 "carcinoembryonic antigen-related cell adhesion molecule 22, pseudogene|carcinoembryonic antigen related cell adhesion molecule 22, pseudogene" CEA cell adhesion molecule family 906 2010-03-23 2019-08-22 2019-08-22 388550 ENSG00000230666 OTTHUMG00000151530 NR_027754 20132533 PGOHUM00000250581 HGNC:38029 +HGNC:1821 CEACAMP1 CEA cell adhesion molecule pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 CGM8 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 1|carcinoembryonic antigen related cell adhesion molecule pseudogene 1" CEA cell adhesion molecule family 906 1991-09-12 2010-03-23 2019-08-22 2019-08-22 1090 ENSG00000233681 OTTHUMG00000151128 M96921 NG_001096 1572649 HGNC:1821 +HGNC:1824 CEACAMP2 CEA cell adhesion molecule pseudogene 2 pseudogene pseudogene Approved 19q13.2 19q13.2 CGM9 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 2|carcinoembryonic antigen related cell adhesion molecule pseudogene 2" CEA cell adhesion molecule family 906 1991-09-12 2010-03-23 2019-08-22 2019-08-22 1091 ENSG00000230558 OTTHUMG00000151119 M96922 NG_001097 1427854 PGOHUM00000234329 HGNC:1824 +HGNC:1825 CEACAMP3 CEA cell adhesion molecule pseudogene 3 pseudogene pseudogene Approved 19q13.2 19q13.2 "CGM10|CEACAM24P" "carcinoembryonic antigen-related cell adhesion molecule 24, pseudogene|carcinoembryonic antigen-related cell adhesion molecule pseudogene 3|carcinoembryonic antigen related cell adhesion molecule pseudogene 3" CEA cell adhesion molecule family 906 1992-05-06 2010-03-23 2019-08-22 2019-08-22 1092 ENSG00000239736 OTTHUMG00000151558 M96923 NG_001098 "7851895|7851896" PGOHUM00000234702 HGNC:1825 +HGNC:1826 CEACAMP4 CEA cell adhesion molecule pseudogene 4 pseudogene pseudogene Approved 19q13.31 19q13.31 CGM11 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 4|carcinoembryonic antigen related cell adhesion molecule pseudogene 4" CEA cell adhesion molecule family 906 1992-05-06 2010-03-23 2019-08-22 2019-08-22 1093 ENSG00000230681 OTTHUMG00000151545 M96924 NG_001099 "7851896|7851895" HGNC:1826 +HGNC:1827 CEACAMP5 CEA cell adhesion molecule pseudogene 5 pseudogene pseudogene Approved 19q13.2 19q13.2 CGM12 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 5|carcinoembryonic antigen related cell adhesion molecule pseudogene 5" CEA cell adhesion molecule family 906 1994-11-04 2010-03-23 2019-08-22 2019-08-22 1085 ENSG00000231561 OTTHUMG00000151122 U06672 NG_001094 "7851895|7851896" PGOHUM00000263713 HGNC:1827 +HGNC:1828 CEACAMP6 CEA cell adhesion molecule pseudogene 6 pseudogene pseudogene Approved 19q13.2 19q13.2 CGM13 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 6|carcinoembryonic antigen related cell adhesion molecule pseudogene 6" CEA cell adhesion molecule family 906 1994-11-04 2010-03-23 2019-08-22 2019-08-22 1094 ENSG00000238092 OTTHUMG00000151126 U06674 NG_001100 "7851896|7851895" PGOHUM00000234333 HGNC:1828 +HGNC:1829 CEACAMP7 CEA cell adhesion molecule pseudogene 7 pseudogene pseudogene Approved 19q13.31 19q13.31 CGM14 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 7|carcinoembryonic antigen related cell adhesion molecule pseudogene 7" CEA cell adhesion molecule family 906 1994-11-04 2010-03-23 2019-08-22 2019-08-22 1095 ENSG00000227349 OTTHUMG00000151121 U06675 NG_001101 "7851896|7851895" HGNC:1829 +HGNC:1830 CEACAMP8 CEA cell adhesion molecule pseudogene 8 pseudogene pseudogene Approved 19q13.31 19q13.31 CGM15 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 8|carcinoembryonic antigen related cell adhesion molecule pseudogene 8" CEA cell adhesion molecule family 906 1994-11-04 2010-03-23 2019-08-22 2019-08-22 1096 ENSG00000236932 OTTHUMG00000151548 U06676 NG_001102 "7851896|7851895|24312300" PGOHUM00000234343 HGNC:1830 +HGNC:1831 CEACAMP9 CEA cell adhesion molecule pseudogene 9 pseudogene pseudogene Approved 19q13.31 19q13.31 CGM16 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 9|carcinoembryonic antigen related cell adhesion molecule pseudogene 9" CEA cell adhesion molecule family 906 1994-11-04 2010-03-23 2019-08-22 2019-08-22 1097 ENSG00000230529 OTTHUMG00000151549 U06677 NG_001103 "7851895|7851896" HGNC:1831 +HGNC:1822 CEACAMP10 CEA cell adhesion molecule pseudogene 10 pseudogene pseudogene Approved 19q13.31 19q13.31 CGM17 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 10|carcinoembryonic antigen related cell adhesion molecule pseudogene 10" CEA cell adhesion molecule family 906 1994-11-04 2010-03-23 2019-08-22 2019-08-22 1098 ENSG00000241104 OTTHUMG00000151538 U06678 NG_001104 "7851896|7851895" HGNC:1822 +HGNC:1823 CEACAMP11 CEA cell adhesion molecule pseudogene 11 pseudogene pseudogene Approved 19q13.31 19q13.31 CGM18 "carcinoembryonic antigen-related cell adhesion molecule pseudogene 11|carcinoembryonic antigen related cell adhesion molecule pseudogene 11" CEA cell adhesion molecule family 906 1994-11-04 2010-03-23 2019-08-22 2019-08-22 1086 ENSG00000236123 OTTHUMG00000151540 U06679 NG_001095 "7851896|7851895" HGNC:1823 +HGNC:1833 CEBPA CCAAT enhancer binding protein alpha protein-coding gene gene with protein product Approved 19q13.11 19q13.11 C/EBP-alpha CEBP "CCAAT/enhancer binding protein (C/EBP), alpha|CCAAT/enhancer binding protein alpha" "Basic leucine zipper proteins|CCAAT/enhancer binding proteins " "506|1165" 1991-11-27 2018-02-23 2021-05-26 1050 ENSG00000245848 OTTHUMG00000161461 uc002nun.4 M37197 NM_004364 CCDS54243 P49715 "1535333|1840554" MGI:99480 RGD:2326 LRG_456|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_456.xml CEBPA 116897 233165 HGNC:1833 "ENST00000498907.3|NM_004364.5" HGNC:1833 +HGNC:25710 CEBPA-DT CEBPA divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 ADINR adipogenic differentiation induced noncoding RNA CEBPA-AS1 "CEBPA antisense RNA 1 (non-protein coding)|CEBPA antisense RNA 1|CEBPA antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-08-10 2018-03-22 2018-03-22 2020-03-09 80054 ENSG00000267296 OTTHUMG00000180429 uc002nuo.4 "AK022417|BC027959" NR_026887 "28423525|26489893" CEBPA-AS1 HGNC:25710 +HGNC:1834 CEBPB CCAAT enhancer binding protein beta protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "LAP|CRP2|NFIL6|IL6DBP|C/EBP-beta" "liver-enriched transcriptional activator protein|nuclear factor of interleukin 6|interleukin 6-dependent DNA-binding protein" TCF5 "CCAAT/enhancer binding protein (C/EBP), beta|CCAAT/enhancer binding protein beta" "Basic leucine zipper proteins|CCAAT/enhancer binding proteins " "506|1165" 1991-02-27 2018-02-23 2018-02-23 1051 ENSG00000172216 OTTHUMG00000032715 uc002xvi.4 AY193834 NM_005194 CCDS13429 P17676 "1535333|1840554" MGI:88373 RGD:2327 189965 HGNC:1834 "ENST00000303004.5|NM_005194.4" +HGNC:51226 CEBPB-AS1 CEBPB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Antisense RNAs 1987 2014-08-08 2014-08-08 101927559 ENSG00000277449 OTTHUMG00000186944 BX463443 NR_125739 CEBPB-AS1 HGNC:51226 +HGNC:1835 CEBPD CCAAT enhancer binding protein delta protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "CRP3|CELF|C/EBP-delta|NF-IL6-beta" "CCAAT/enhancer binding protein (C/EBP), delta|CCAAT/enhancer binding protein delta" "Basic leucine zipper proteins|CCAAT/enhancer binding proteins " "506|1165" 1992-06-24 2018-02-23 2018-02-23 1052 ENSG00000221869 OTTHUMG00000162290 uc003xqh.2 NM_005195 CCDS6142 P49716 "1840554|1884998" MGI:103573 RGD:2328 116898 HGNC:1835 "ENST00000408965.4|NM_005195.4" +HGNC:1836 CEBPE CCAAT enhancer binding protein epsilon protein-coding gene gene with protein product Approved 14q11.2 14q11.2 CRP1 "CCAAT/enhancer binding protein (C/EBP), epsilon|CCAAT/enhancer binding protein epsilon" "Basic leucine zipper proteins|CCAAT/enhancer binding proteins " "506|1165" 1992-06-24 2018-02-23 2021-05-26 1053 ENSG00000092067 OTTHUMG00000028719 uc001wiv.3 NM_001805 CCDS9589 Q15744 8661101 MGI:103572 RGD:2329 "CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency|http://structure.bmc.lu.se/idbase/CEBPEbase/|LRG_45|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_45.xml" 600749 183890 HGNC:1836 "ENST00000206513.6|NM_001805.4" HGNC:1836 +HGNC:1837 CEBPG CCAAT enhancer binding protein gamma protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "GPE1BP|IG/EBP-1" "CCAAT/enhancer binding protein (C/EBP), gamma|CCAAT/enhancer binding protein gamma" "Basic leucine zipper proteins|CCAAT/enhancer binding proteins " "506|1165" 1992-07-08 2018-02-23 2018-02-23 1054 ENSG00000153879 OTTHUMG00000180469 uc002nup.4 U20240 NM_001806 CCDS12432 P53567 1884998 MGI:104982 RGD:2330 138972 HGNC:1837 "ENST00000284000.9|NM_001806.4" +HGNC:24218 CEBPZ CCAAT enhancer binding protein zeta protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "CBF2|CTF2" "CCAAT/enhancer binding protein (C/EBP), zeta|CCAAT/enhancer binding proteincebp* family zeta|CCAAT/enhancer binding protein zeta" "CCAAT/enhancer binding proteins |Armadillo like helical domain containing" "1165|1492" 2004-02-03 2018-02-23 2019-02-08 10153 ENSG00000115816 OTTHUMG00000100960 uc002rpz.5 M37197 NM_005760 CCDS1787 Q03701 "2247079|12534345" MGI:109386 RGD:1304994 612828 HGNC:24218 "ENST00000234170.10|NM_005760.3" +HGNC:49288 CEBPZOS CEBPZ opposite strand protein-coding gene gene with protein product Approved 2p22.2 02p22.2 CEBPZ-AS1 CEBPZ antisense RNA 1 2013-10-15 2014-04-07 2014-04-07 2021-10-06 100505876 ENSG00000218739 OTTHUMG00000152162 NM_001322373 CCDS82435 A8MTT3 MGI:1915804 RGD:9177508 HGNC:49288 "ENST00000402297.6|NM_001322374.2" +HGNC:1838 CECR cat eye syndrome chromosome region other region Approved 22pter-q11 22pter-q11 2001-06-22 2012-10-02 1055 +HGNC:1840 CECR2 CECR2 histone acetyl-lysine reader protein-coding gene gene with protein product Approved 22q11.1-q11.21 22q11.1-q11.21 KIAA1740 cat eye syndrome chromosome region, candidate 2 Bromodomain containing 1232 2000-01-31 2019-01-21 2019-01-21 27443 ENSG00000099954 OTTHUMG00000150072 uc010gqv.2 AF336133 NM_031413 CCDS77646 Q9BXF3 "11381032|15640247|26365797" MGI:1923799 RGD:1564182 607576 objectId:2733 HGNC:1840 "ENST00000262608.13|NM_001290047.2" +HGNC:1841 CECR3 cat eye syndrome chromosome region, candidate 3 non-coding RNA RNA, long non-coding Approved 22q11.1 22q11.1 "cat eye syndrome chromosome region, candidate 3|cat eye syndrome chromosome region, candidate 3 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2000-01-31 2018-05-16 2018-05-16 27442 ENSG00000241832 OTTHUMG00000150063 uc021wkn.2 AF277398 NR_038398 11381032 CECR3 HGNC:1841 +HGNC:1845 CECR7 cat eye syndrome chromosome region, candidate 7 non-coding RNA RNA, long non-coding Approved 22q11.1 22q11.1 SAHL1 "cat eye syndrome chromosome region, candidate 7|cat eye syndrome chromosome region, candidate 7 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2000-01-31 2018-05-16 2020-04-20 100130418 ENSG00000237438 OTTHUMG00000150027 uc062bfn.1 BC043198 NR_015352 11381032 CECR7 HGNC:1845 +HGNC:1847 CECR9 cat eye syndrome chromosome region, candidate 9 non-coding RNA RNA, long non-coding Approved 22q11.2 22q11.2 "cat eye syndrome chromosome region, candidate 9|cat eye syndrome chromosome region, candidate 9 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2000-03-22 2018-05-16 2018-05-16 30847 ENSG00000231004 OTTHUMG00000150065 uc062bgg.1 AF307449 P0C854 11381032 CECR9 +HGNC:1848 CEL carboxyl ester lipase protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "BSSL|MODY8" bile salt-stimulated lipase Lipases 464 1990-12-19 2013-03-13 2016-10-05 1056 ENSG00000170835 OTTHUMG00000020855 uc010naa.3 M54994 NM_001807 CCDS43896 P19835 1676983 MGI:88374 RGD:2331 114840 119333 S09.985 objectId:2872 "3.1.1.3|3.1.1.13" HGNC:1848 "ENST00000372080.8|NM_001807.6" HGNC:1848 +HGNC:3308 CELA1 chymotrypsin like elastase 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 ELA1 "elastase 1, pancreatic|chymotrypsin-like elastase family, member 1" Chymotrypsin like elastases 1837 2001-06-22 2009-05-05 2019-03-08 2019-03-08 1990 ENSG00000139610 OTTHUMG00000167523 uc001ryi.1 NM_001971 CCDS8812 Q9UNI1 MGI:95314 RGD:2547 130120 S01.153 objectId:2338 HGNC:3308 "ENST00000293636.2|NM_001971.6" +HGNC:24609 CELA2A chymotrypsin like elastase 2A protein-coding gene gene with protein product Approved 1p36.21 01p36.21 ELA2A elastase 2A chymotrypsin-like elastase family, member 2A Chymotrypsin like elastases 1837 2009-05-05 2019-03-08 2021-05-26 63036 ENSG00000142615 OTTHUMG00000002258 uc001awk.4 NM_033440 CCDS157 P08217 "3646943|2834346" MGI:95316 RGD:2548 609443 S01.155 3.4.21.71 HGNC:24609 "ENST00000359621.5|NM_033440.3" HGNC:24609 +HGNC:29995 CELA2B chymotrypsin like elastase 2B protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "RP11-265F14.2|ELA2B" pancreatic elastase IIB chymotrypsin-like elastase family, member 2B Chymotrypsin like elastases 1837 2009-05-05 2019-03-08 2019-03-08 51032 ENSG00000215704 OTTHUMG00000002259 uc001awl.3 NM_015849 CCDS30605 P08218 "3646943|16327289" MGI:95316 609444 S01.206 HGNC:29995 "ENST00000375910.8|NM_015849.3" +HGNC:15944 CELA3A chymotrypsin like elastase 3A protein-coding gene gene with protein product Approved 1p36.12 01p36.12 ELA3 protease E ELA3A "elastase 3A, pancreatic (protease E)|elastase 3A, pancreatic|chymotrypsin-like elastase family, member 3A" Chymotrypsin like elastases 1837 2001-07-18 2009-05-05 2019-03-08 2019-03-08 10136 ENSG00000142789 OTTHUMG00000002755 uc001bfl.4 D00306 NM_005747 CCDS220 P09093 "2826474|2460440" "MGI:1915118|MGI:3651647" 618693 S01.154 HGNC:15944 "ENST00000290122.8|NM_005747.5" +HGNC:15945 CELA3B chymotrypsin like elastase 3B protein-coding gene gene with protein product Approved 1p36.12 01p36.12 CBPP "proteinase E|elastase 1|cholesterol-binding pancreatic protease|pancreatic endopeptidase E" ELA3B "elastase 3B, pancreatic|chymotrypsin-like elastase family, member 3B" Chymotrypsin like elastases 1837 2001-07-18 2009-05-05 2019-03-08 2019-03-08 23436 ENSG00000219073 OTTHUMG00000002758 uc001bfk.4 M18692 NM_007352 CCDS219 P08861 "2826474|2460440" "MGI:1915118|MGI:3651647" RGD:1307819 618694 S01.205 3.4.21.70 HGNC:15945 "ENST00000337107.11|NM_007352.4" +HGNC:2549 CELF1 CUGBP Elav-like family member 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "CUG-BP|hNab50|BRUNOL2|NAB50|CUGBP|NAPOR|EDEN-BP" "CUG RNA-binding protein|nuclear polyadenylated RNA-binding protein, 50-kD|bruno-like 2|embryo deadenylation element binding protein" CUGBP1 "CUG triplet repeat, RNA-binding protein 1|CUG triplet repeat, RNA binding protein 1|CUGBP, Elav-like family member 1" RNA binding motif containing 725 1998-09-25 2010-02-19 2017-01-20 2017-01-20 10658 ENSG00000149187 OTTHUMG00000166526 uc001nfl.4 U63289 NM_006560 "CCDS7938|CCDS7939|CCDS53622|CCDS31482|CCDS53623|CCDS81565" Q92879 "8948631|9371827" MGI:1342295 RGD:1307721 601074 HGNC:2549 "ENST00000687097.1|NM_001376376.1" +HGNC:2550 CELF2 CUGBP Elav-like family member 2 protein-coding gene gene with protein product Approved 10p14 10p14 "Etr-3|NAPOR-2|BRUNOL3" CUGBP2 "CUG triplet repeat, RNA-binding protein 2|CUG triplet repeat, RNA binding protein 2|CUGBP, Elav-like family member 2" RNA binding motif containing 725 1999-12-02 2010-02-19 2017-01-20 2017-01-20 10659 ENSG00000048740 OTTHUMG00000017668 uc284mvf.1 U69546 NM_001025076 "CCDS44356|CCDS41488|CCDS86072|CCDS86071|CCDS86070|CCDS86069|CCDS44354|CCDS44355" O95319 "7869393|9887331" MGI:1338822 RGD:68347 602538 HGNC:2550 "ENST00000633077.2|NM_001326342.2" HGNC:2550 +HGNC:23515 CELF2-AS1 CELF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 "FLJ40494|Em:AC026887.2" C10orf31 "chromosome 10 open reading frame 31|CELF2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2012-07-12 2012-08-15 2014-11-19 414196 ENSG00000181800 OTTHUMG00000017669 uc057rqz.1 AK097813 XR_109007 Q8N7Q2 CELF2-AS1 HGNC:23515 +HGNC:44703 CELF2-AS2 CELF2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Antisense RNAs 1987 2012-12-05 2012-12-05 439950 ENSG00000237986 OTTHUMG00000017665 uc057rqs.2 NR_046108 CELF2-AS2 HGNC:44703 +HGNC:54157 CELF2-DT CELF2 divergent transript non-coding RNA RNA, long non-coding Approved 10p14 10p14 Divergent transcripts 1990 2018-12-10 2018-12-10 101928322 ENSG00000270111 NR_120637 HGNC:54157 +HGNC:11967 CELF3 CUGBP Elav-like family member 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "CAGH4|BRUNOL1|ERDA4|MGC57297" "expanded repeat domain, CAG/CTG 4|CAG repeat domain|CUG-BP and ETR-3 like factor 3" TNRC4 "trinucleotide repeat containing 4|CUGBP, Elav-like family member 3" RNA binding motif containing 725 2000-01-27 2010-02-19 2017-01-20 2017-01-20 11189 ENSG00000159409 OTTHUMG00000013064 uc001eys.3 U80759 NM_007185 "CCDS1002|CCDS53367" Q5SZQ8 9225980 MGI:1926034 RGD:1563168 612678 HGNC:11967 "ENST00000290583.9|NM_007185.7" +HGNC:14015 CELF4 CUGBP Elav-like family member 4 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 BRUNOL4 "Bruno (Drosophila) -like 4, RNA binding protein|bruno-like 4, RNA binding protein (Drosophila)|CUGBP, Elav-like family member 4" RNA binding motif containing 725 2000-11-28 2010-02-19 2017-01-20 2017-01-20 56853 ENSG00000101489 OTTHUMG00000178178 uc002lae.3 AF248651 NM_020180 "CCDS45856|CCDS32818|CCDS45858|CCDS45857|CCDS82250" Q9BZC1 10893231 MGI:1932407 RGD:1307630 612679 HGNC:14015 "ENST00000420428.7|NM_020180.4" +HGNC:14058 CELF5 CUGBP Elav-like family member 5 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 BRUNOL5 "Bruno (Drosophila) -like 5, RNA binding protein|bruno-like 5, RNA binding protein (Drosophila)|CUGBP, Elav-like family member 5" RNA binding motif containing 725 2000-11-28 2010-02-19 2017-01-20 2017-01-20 60680 ENSG00000161082 OTTHUMG00000180693 uc002lxm.4 AF248649 NM_021938 "CCDS54197|CCDS12106" Q8N6W0 10893231 MGI:2442333 RGD:1565016 612680 HGNC:14058 "ENST00000292672.7|NM_021938.4" +HGNC:14059 CELF6 CUGBP Elav-like family member 6 protein-coding gene gene with protein product Approved 15q23 15q23 BRUNOL6 "Bruno (Drosophila) -like 6, RNA binding protein|bruno-like 6, RNA binding protein (Drosophila)|CUGBP, Elav-like family member 6" RNA binding motif containing 725 2000-11-28 2010-02-19 2017-01-20 2017-01-20 60677 ENSG00000140488 OTTHUMG00000186423 uc002auh.3 AF425606 NM_052840 "CCDS10242|CCDS53956|CCDS53955" Q96J87 10893231 MGI:1923433 RGD:1310451 612681 HGNC:14059 "ENST00000287202.10|NM_052840.5" +HGNC:1849 CELP carboxyl ester lipase pseudogene pseudogene pseudogene Approved 9q34.13 09q34.13 CELL carboxyl ester lipase-like (bile salt-stimulated lipase-like) 1992-01-14 2003-03-07 2003-02-28 2021-10-07 1057 ENSG00000170827 OTTHUMG00000020857 L14813 NR_001275 1639390 PGOHUM00000236782 HGNC:1849 +HGNC:1850 CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "ME2|HFMI2|FMI2|CDHF9|ADGRC1" "flamingo homolog 2 (Drosophila)|adhesion G protein-coupled receptor C1" "cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog|cadherin, EGF LAG seven-pass G-type receptor 1" "Adhesion G protein-coupled receptors, subfamily C|CELSR cadherins" "913|1189" 2000-02-14 2016-01-15 2021-05-26 9620 ENSG00000075275 OTTHUMG00000150423 uc003bhw.1 AF231024 NM_014246 CCDS14076 Q9NYQ6 9339365 MGI:1100883 RGD:1560078 604523 470064 objectId:178 HGNC:1850 "ENST00000674500.2|NM_001378328.1" HGNC:1850 +HGNC:55984 CELSR1P1 CELSR1 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 2021-11-12 2021-11-12 123466216 ENSG00000237517 PGOHUM00000297630 +HGNC:3231 CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "KIAA0279|MEGF3|Flamingo1|CDHF10|ADGRC2" adhesion G protein-coupled receptor C2 EGFL2 "cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog|cadherin, EGF LAG seven-pass G-type receptor 2" "Adhesion G protein-coupled receptors, subfamily C|CELSR cadherins" "913|1189" 1998-03-25 2016-01-15 2021-05-26 1952 ENSG00000143126 OTTHUMG00000012003 uc001dxa.5 D87469 NM_001408 CCDS796 Q9HCU4 "9693030|10907856" MGI:1858235 RGD:69237 604265 objectId:179 HGNC:3231 "ENST00000271332.4|NM_001408.3" +HGNC:3230 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "MEGF2|HFMI1|FMI1|CDHF11|ADGRC3" "flamingo homolog 1 (Drosophila)|adhesion G protein-coupled receptor C3" EGFL1 "cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog|cadherin, EGF LAG seven-pass G-type receptor 3" "Adhesion G protein-coupled receptors, subfamily C|CELSR cadherins|MicroRNA protein coding host genes" "913|1189|1691" 1998-03-25 2016-01-15 2016-01-15 1951 ENSG00000008300 OTTHUMG00000133544 uc003cul.4 AF231023 NM_001407 CCDS2775 Q9NYQ7 9693030 MGI:1858236 RGD:621787 604264 objectId:180 HGNC:3230 "ENST00000164024.5|NM_001407.3" +HGNC:29213 CEMIP cell migration inducing hyaluronidase 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "IR2155535|TMEM2L|HYBID" hyaluronan-binding protein involved in hyaluronan depolymerization KIAA1199 "KIAA1199|cell migration inducing protein, hyaluronan binding|cell migration inducing hyaluronan binding protein" Hyaluronidases 1448 2004-06-29 2014-02-06 2018-02-26 2021-12-03 57214 ENSG00000103888 OTTHUMG00000144184 BC020256 NM_018689 CCDS10315 Q8WUJ3 "14577002|16157444|24573670" MGI:2443629 RGD:1305254 608366 HGNC:29213 "ENST00000394685.8|NM_001293298.2" HGNC:29213 +HGNC:11869 CEMIP2 cell migration inducing hyaluronidase 2 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 TMEM2 transmembrane protein 2 Hyaluronidases 1448 1999-03-24 2018-02-26 2018-02-26 2020-11-17 23670 ENSG00000135048 OTTHUMG00000020000 uc011lsa.1 NM_013390 "CCDS6638|CCDS47979" Q9UHN6 28246172 MGI:1890373 RGD:1307941 605835 HGNC:11869 "ENST00000377044.9|NM_013390.3" +HGNC:32553 CEMP1 cementum protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 CP-23 cementum protein-23 2006-09-19 2020-01-06 752014 ENSG00000205923 OTTHUMG00000177160 uc002cqr.3 AY584596 NM_001048212 CCDS42108 Q6PRD7 16263347 611113 HGNC:32553 "ENST00000567119.1|NM_001048212.3" +HGNC:30460 CENATAC centrosomal AT-AC splicing factor protein-coding gene gene with protein product Approved 11q23.3 11q23.3 DLNB14 CCDC84 coiled-coil domain containing 84 2006-03-13 2020-06-08 2020-06-08 2020-06-08 338657 ENSG00000186166 OTTHUMG00000166348 uc001pul.5 AB094093 NM_198489 CCDS8405 Q86UT8 31722219 MGI:2685960 RGD:1597440 HGNC:30460 "ENST00000334418.6|NM_198489.3" +HGNC:54215 CENATAC-DT CENATAC divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 CCDC84-DT CCDC84 divergent transcript Divergent transcripts 1990 2019-04-09 2020-06-08 2020-06-08 2020-06-08 107984396 ENSG00000255121 HGNC:54215 +HGNC:24153 CEND1 cell cycle exit and neuronal differentiation 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ90066|BM88" 2006-06-14 2014-11-19 51286 ENSG00000184524 OTTHUMG00000133308 uc001lrh.2 AK074547 NM_016564 CCDS7714 Q8N111 11311134 MGI:1929898 RGD:1309401 608213 HGNC:24153 "ENST00000330106.5|NM_016564.4" +HGNC:43674 CEND1P1 cell cycle exit and neuronal differentiation 1 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 2012-01-30 2012-01-30 122631 ENSG00000213159 OTTHUMG00000029805 NG_005601 PGOHUM00000248280 HGNC:43674 +HGNC:43675 CEND1P2 cell cycle exit and neuronal differentiation 1 pseudogene 2 pseudogene pseudogene Approved 13q12.12 13q12.12 2012-01-30 2012-01-30 724034 NG_005600 PGOHUM00000248532 HGNC:43675 +HGNC:1851 CENPA centromere protein A protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "CENP-A|CenH3" "centromere-specific histone|histone H3-like centromeric protein A" "centromere protein A (17kD)|centromere protein A, 17kDa" "Constitutive centromere associated network|H3 histones" "1576|1938" 1988-05-31 2006-06-16 2014-11-19 1058 ENSG00000115163 OTTHUMG00000097073 uc002rhr.4 U14518 NM_001809 "CCDS1729|CCDS42662" P49450 MGI:88375 RGD:1563607 117139 HGNC:1851 "ENST00000335756.9|NM_001809.4" +HGNC:1852 CENPB centromere protein B protein-coding gene gene with protein product Approved 20p13 20p13 "centromere protein B (80kD)|centromere protein B, 80kDa" "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 1988-05-31 2015-11-05 2015-11-05 1059 ENSG00000125817 OTTHUMG00000031761 uc002wjk.3 X05299 NM_001810 CCDS13064 P07199 "8406460|11884609" MGI:88376 RGD:1304794 117140 HGNC:1852 "ENST00000379751.5|NM_001810.6" +HGNC:28272 CENPBD1P CENPB DNA-binding domain containing 1, pseudogene pseudogene pseudogene Approved 16q24.3 16q24.3 MGC16385 CENPBD1 "CENPB DNA-binding domains containing 1|CENPB DNA-binding domain containing 1" 2009-08-26 2021-06-24 2021-06-24 2021-10-07 92806 ENSG00000177946 OTTHUMG00000173040 uc002fpr.4 AK056131 NR_172519 CCDS45556 B2RD01 32742312 HGNC:28272 +HGNC:28421 CENPBD2P CENPB DNA-binding domains containing 2, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 CENPBD1P1 "CENPBD1 pseudogene 1|CENPB DNA-binding domains containing 1 pseudogene 1" 2013-11-05 2021-06-24 2021-06-24 2021-06-24 65996 ENSG00000213753 OTTHUMG00000158344 NR_026052 PGOHUM00000234828 HGNC:28421 +HGNC:1854 CENPC centromere protein C protein-coding gene gene with protein product Approved 4q13.2 04q13.2 "CENP-C|hcp-4|MIF2" CENPC1 centromere protein C 1 Constitutive centromere associated network 1576 1998-01-16 2013-07-03 2013-07-03 2015-09-07 1060 ENSG00000145241 OTTHUMG00000160735 M95724 NM_001362481 CCDS47063 Q03188 7959789 MGI:99700 RGD:1303061 117141 HGNC:1854 "ENST00000273853.11|NM_001812.4" +HGNC:1855 CENPCP1 centromere protein C pseudogene 1 pseudogene pseudogene Approved 12q21.33 12q21.33 "CENPC|CENPC2|CENPC1P1" "centromere protein C2, 140kDa|centromere protein C2, 140kDa pseudogene|centromere protein C 1 pseudogene 1" 1998-01-16 2013-07-03 2013-07-03 2014-11-19 1061 ENSG00000226982 OTTHUMG00000165431 NG_003044 "7959789|8406460" PGOHUM00000251024 HGNC:1855 +HGNC:1856 CENPE centromere protein E protein-coding gene gene with protein product Approved 4q24 04q24 "KIF10|PPP1R61" protein phosphatase 1, regulatory subunit 61 "centromere protein E (312kD)|centromere protein E, 312kDa" "Kinesins|Protein phosphatase 1 regulatory subunits" "622|694" 1994-07-04 2015-11-05 2021-05-26 1062 ENSG00000138778 OTTHUMG00000160980 uc003hxb.1 Z15005 NM_001286734 "CCDS68768|CCDS34042" Q02224 7851898 MGI:1098230 RGD:1307115 117143 419081 HGNC:1856 "ENST00000265148.9|NM_001813.3" HGNC:1856 +HGNC:1857 CENPF centromere protein F protein-coding gene gene with protein product Approved 1q41 01q41 hcp-1 mitosin "centromere protein F, 350/400kDa (mitosin)|centromere protein F, 350/400kDa" 1994-07-04 2015-11-05 2021-05-26 1063 ENSG00000117724 OTTHUMG00000036955 uc001hkm.4 U30872 NM_016343 CCDS31023 P49454 "7904902|7851898" MGI:1313302 RGD:628667 600236 448640 HGNC:1857 "ENST00000366955.8|NM_016343.4" HGNC:1857 +HGNC:17268 CENPH centromere protein H protein-coding gene gene with protein product Approved 5q13.2 05q13.2 Constitutive centromere associated network 1576 2001-11-30 2016-10-05 64946 ENSG00000153044 OTTHUMG00000097816 uc003jvp.3 AB035124 NM_022909 CCDS3998 Q9H3R5 "11092768|15502821" MGI:1349448 RGD:1583506 605607 HGNC:17268 "ENST00000283006.7|NM_022909.4" +HGNC:3968 CENPI centromere protein I protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "LRPR1|CENP-I|Mis6" FSHPRH1 "FSH primary response (LRPR1, rat) homolog 1|FSH primary response (LRPR1 homolog, rat) 1" Constitutive centromere associated network 1576 1996-10-26 2006-06-15 2006-06-15 2020-04-02 2491 ENSG00000102384 OTTHUMG00000022018 uc065agi.1 X97249 NM_006733 "CCDS14479|CCDS83482" Q92674 16622420 MGI:2147897 RGD:2631 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CENPI 300065 HGNC:3968 "ENST00000682095.1|NM_001386188.2" HGNC:3968 +HGNC:39575 CENPIP1 centromere protein I pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-03-15 2011-03-15 100419337 ENSG00000224778 OTTHUMG00000016482 NG_024888 PGOHUM00000248507 HGNC:39575 +HGNC:17272 CENPJ centromere protein J protein-coding gene gene with protein product Approved 13q12.12-q12.13 13q12.12-q12.13 "CPAP|BM032|LAP|LIP1|Sas-4|SASS4|SCKL4" "centrosomal P4.1-associated protein|Seckel syndrome 4|Spindle assembly abnormal 4|LAG-3-associated protein" MCPH6 microcephaly, primary autosomal recessive 6 2002-02-15 2019-07-22 55835 ENSG00000151849 OTTHUMG00000016595 uc001upt.6 AF139625 NM_018451 CCDS9310 Q9HC77 "11003675|22699936" MGI:2684927 RGD:1310464 609279 119336 HGNC:17272 "ENST00000381884.9|NM_018451.5" HGNC:17272 +HGNC:29479 CENPK centromere protein K protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "FKSG14|SOLT|CENP-K" Constitutive centromere associated network 1576 2006-06-15 2014-11-19 64105 ENSG00000123219 OTTHUMG00000131227 uc003jts.4 BC008504 NM_022145 "CCDS3984|CCDS87299" Q9BS16 8950979 MGI:1926210 RGD:1310461 611502 HGNC:29479 "ENST00000396679.6|NM_022145.5" +HGNC:17879 CENPL centromere protein L protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "dJ383J4.3|FLJ31044" C1orf155 chromosome 1 open reading frame 155 Constitutive centromere associated network 1576 2005-07-14 2006-06-15 2006-06-15 2014-11-19 91687 ENSG00000120334 OTTHUMG00000034802 uc001gjf.5 "BC033154|BC019022|AK055606" NM_033319 "CCDS30938|CCDS44277" Q8N0S6 "16622420|16622419" MGI:1917704 RGD:1311868 611503 HGNC:17879 "ENST00000682279.1|NM_001387287.1" +HGNC:18352 CENPM centromere protein M protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "Pane1|CENP-M|MGC861" C22orf18 chromosome 22 open reading frame 18 "Minor histocompatibility antigens|Constitutive centromere associated network" "870|1576" 2002-04-03 2006-06-15 2006-06-15 2014-11-18 79019 ENSG00000100162 OTTHUMG00000151277 uc003bbn.4 BC000705 NM_024053 "CCDS77681|CCDS46720|CCDS46719|CCDS77682|CCDS77683|CCDS14025" Q9NSP4 "16622420|16622419" MGI:1913820 RGD:1307309 610152 HGNC:18352 "ENST00000215980.10|NM_024053.5" +HGNC:30873 CENPN centromere protein N protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "FLJ13607|FLJ22660|BM039" C16orf60 chromosome 16 open reading frame 60 Constitutive centromere associated network 1576 2006-02-20 2006-06-15 2006-06-15 2015-08-24 55839 ENSG00000166451 OTTHUMG00000137628 uc002ffx.3 AK026313 NM_018455 "CCDS58482|CCDS10931|CCDS42199|CCDS42200|CCDS58483" Q96H22 16622419 MGI:1919405 RGD:1310953 611509 HGNC:30873 "ENST00000305850.10|NM_001100624.3" +HGNC:55106 CENPN-AS1 CENPN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 Antisense RNAs 1987 2020-06-24 2020-06-24 107984858 ENSG00000260213 XR_001752273 +HGNC:54592 CENPNP1 CENPN pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-10-16 2020-01-21 100132498 ENSG00000233671 NG_021513 +HGNC:54593 CENPNP2 CENPN pseudogene 2 pseudogene pseudogene Approved 2q13 02q13 2019-10-16 2020-01-21 100133059 ENSG00000228615 NG_030147 +HGNC:28152 CENPO centromere protein O protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "MGC11266|CENP-O" Constitutive centromere associated network 1576 2006-06-15 2014-11-19 79172 ENSG00000138092 OTTHUMG00000125525 uc061hdm.1 AK027859 NM_024322 "CCDS1714|CCDS56113" Q9BU64 "16622420|16622419" MGI:1923800 RGD:1590328 611504 HGNC:28152 "ENST00000380834.7|NM_001322101.2" +HGNC:32933 CENPP centromere protein P protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "RP11-19J3.3|CENP-P" Constitutive centromere associated network 1576 2006-06-15 2014-11-18 401541 ENSG00000188312 OTTHUMG00000020228 uc004arz.5 AK091247 NM_001012267 "CCDS69618|CCDS35063" Q6IPU0 "16622419|16622420" MGI:1913586 RGD:1589530 611505 HGNC:32933 "ENST00000375587.8|NM_001012267.3" +HGNC:21347 CENPQ centromere protein Q protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "FLJ10545|CENP-Q" C6orf139 chromosome 6 open reading frame 139 Constitutive centromere associated network 1576 2003-06-09 2006-06-15 2006-06-15 2014-11-19 55166 ENSG00000031691 OTTHUMG00000014815 uc003ozh.2 AK001407 NM_018132 CCDS4925 Q7L2Z9 "16622420|16622419" MGI:1933744 RGD:1359451 611506 HGNC:21347 "ENST00000335783.4|NM_018132.4" +HGNC:23163 CENPS centromere protein S protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "CENP-S|FAAP16" "APITD1|MHF1" "apoptosis-inducing, TAF9-like domain 1|FANCM associated histone fold protein 1" Constitutive centromere associated network 1576 2003-09-25 2016-09-08 2016-09-08 2016-09-08 378708 ENSG00000175279 OTTHUMG00000059085 uc001are.4 BC029430 NM_199294 CCDS115 Q8N2Z9 "15328517|24522885|25038251" MGI:1917178 RGD:5128728 609130 HGNC:23163 "ENST00000309048.8|NM_199294.3" +HGNC:38843 CENPS-CORT CENPS-CORT readthrough other readthrough Approved 1p36.22 01p36.22 APITD1-CORT APITD1-CORT readthrough 2011-02-21 2017-04-19 2017-04-19 2017-04-19 100526739 ENSG00000251503 OTTHUMG00000162436 uc001arf.4 NM_198544.3 "CCDS114|CCDS53266|CCDS72699" MGI:1917178 HGNC:38843 +HGNC:25787 CENPT centromere protein T protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ13111|CENP-T" C16orf56 chromosome 16 open reading frame 56 Constitutive centromere associated network 1576 2005-12-23 2006-06-15 2006-06-15 2020-01-06 80152 ENSG00000102901 OTTHUMG00000173071 uc002eun.4 AK056097 NM_025082 CCDS42182 Q96BT3 "16622420|16622419" MGI:2443939 RGD:1309383 611510 HGNC:25787 "ENST00000562787.6|NM_025082.4" HGNC:25787 +HGNC:21348 CENPU centromere protein U protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "CENP-U|KLIP1|CENP-50|PBIP1" polo-box-interacting protein 1 MLF1IP MLF1 interacting protein Constitutive centromere associated network 1576 2003-07-17 2013-11-05 2013-11-05 2014-11-19 79682 ENSG00000151725 OTTHUMG00000160499 "AK027121|AF516710" NM_024629 CCDS3838 Q71F23 "15116101|16622420|16622419" MGI:1919126 RGD:1562566 611511 HGNC:21348 "ENST00000281453.10|NM_024629.4" +HGNC:49889 CENPUP1 centromere protein U pseudogene 1 pseudogene pseudogene Approved 11p15.3 11p15.3 2014-03-18 2016-10-05 100130384 ENSG00000255075 OTTHUMG00000165745 NG_021809 PGOHUM00000242599 HGNC:49889 +HGNC:49890 CENPUP2 centromere protein U pseudogene 2 pseudogene pseudogene Approved 12p12.1 12p12.1 2014-03-18 2014-03-18 100419930 ENSG00000258546 OTTHUMG00000170823 NG_023991 PGOHUM00000258618 HGNC:49890 +HGNC:29920 CENPV centromere protein V protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "p30|CENP-V" PRR6 proline rich 6 2004-11-08 2008-10-29 2008-10-29 2014-11-19 201161 ENSG00000166582 OTTHUMG00000059345 uc002gpw.4 AF514992 NM_181716 CCDS32575 Q7Z7K6 "12196509|18772885" MGI:1920389 RGD:1565681 608139 HGNC:29920 "ENST00000299736.5|NM_181716.3" +HGNC:31851 CENPVL1 centromere protein V like 1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 PRR6L1 proline rich 6-like 1 CENPVP1 centromere protein V pseudogene 1 2009-11-09 2016-07-19 2016-07-19 2018-11-15 389857 ENSG00000223591 OTTHUMG00000021539 uc284rbl.1 AY730278 NM_001355277 CCDS87745 A0A0U1RR11 27250503 PGOHUM00000241759 HGNC:31851 "ENST00000602548.2|NM_001355277.1" +HGNC:43879 CENPVL2 centromere protein V like 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CENPVP2 centromere protein V pseudogene 2 2012-04-17 2016-07-19 2016-07-19 2019-03-06 441495 ENSG00000283093 OTTHUMG00000191517 NM_001355278 CCDS87744 P0DPI3 27250503 PGOHUM00000304619 HGNC:43879 "ENST00000634648.1|NM_001355278.1" +HGNC:43880 CENPVL3 centromere protein V like 3 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CENPVP3 centromere protein V pseudogene 3 2012-04-17 2016-07-19 2016-07-19 2017-11-24 347549 ENSG00000224109 OTTHUMG00000021534 uc284rbj.1 NM_001355276 CCDS87743 A0A0U1RRI6 27250503 PGOHUM00000241297 HGNC:43880 "ENST00000417339.4|NM_001355276.2" +HGNC:21488 CENPW centromere protein W protein-coding gene gene with protein product Approved 6q22.32 06q22.32 CUG2 cancer-upregulated gene 2 C6orf173 chromosome 6 open reading frame 173 Constitutive centromere associated network 1576 2003-11-26 2010-04-16 2010-04-16 2015-08-24 387103 ENSG00000203760 OTTHUMG00000015518 uc003qao.5 BC039556 NM_001012507 "CCDS75516|CCDS34529|CCDS69196" Q5EE01 "17610844|19070575" MGI:1913561 RGD:1593465 611264 HGNC:21488 "ENST00000368328.5|NM_001012507.4" +HGNC:11422 CENPX centromere protein X protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC14480|FAAP10|CENP-X" "STRA13|MHF2" "stimulated by retinoic acid 13 homolog (mouse)|stimulated by retinoic acid 13|FANCM associated histone fold protein 2" Constitutive centromere associated network 1576 2004-02-16 2016-09-08 2016-09-08 2016-09-08 201254 ENSG00000169689 OTTHUMG00000132129 uc031rey.2 BC009571 NM_144998 "CCDS59302|CCDS82223|CCDS32772|CCDS59303" A8MT69 "24522885|25038251" MGI:894324 RGD:1590057 615128 HGNC:11422 "ENST00000392359.8|NM_001271006.2" +HGNC:28209 CEP19 centrosomal protein 19 protein-coding gene gene with protein product Approved 3q29 03q29 MGC14126 C3orf34 "chromosome 3 open reading frame 34|centrosomal protein 19kDa" 2006-01-02 2011-05-06 2016-03-30 2021-05-26 84984 ENSG00000174007 OTTHUMG00000153933 uc011btw.3 BC007827 NM_032898 CCDS43193 Q96LK0 21399614 MGI:1914244 RGD:621352 615586 400633 HGNC:28209 "ENST00000409690.5|NM_032898.5" HGNC:28209 +HGNC:54796 CEP19P1 CEP19 pseudogene 1 pseudogene pseudogene Approved 2q37.2 02q37.2 2020-01-08 2020-01-21 642692 ENSG00000231032 NG_030144 +HGNC:26435 CEP20 centrosomal protein 20 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "DKFZp686N1651|FLJ31153|PHSECRG2|FOR20" "pluripotent embryonic stem cell-related protein|FOP-related protein of 20 kDa" "C16orf63|FOPNL" "chromosome 16 open reading frame 63|FGFR1OP N-terminal like" 2006-02-20 2020-01-09 2020-01-09 2020-01-09 123811 ENSG00000133393 OTTHUMG00000129923 uc002dec.2 AL832498 NM_144600 "CCDS76829|CCDS10567|CCDS76830|CCDS76831|CCDS76832|CCDS76833" Q96NB1 20551181 MGI:1913336 RGD:1305823 617149 HGNC:26435 "ENST00000255759.11|NM_144600.4" +HGNC:12370 CEP41 centrosomal protein 41 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "DKFZp762H1311|FLJ22445|JBTS15" TSGA14 "testis specific, 14|centrosomal protein 41kDa" 2000-08-24 2011-10-04 2016-03-30 2021-05-26 95681 ENSG00000106477 OTTHUMG00000157823 uc003vpz.5 AJ278890 NM_018718 "CCDS59079|CCDS59080|CCDS59078|CCDS5821" Q9BYV8 "14654843|22246503" MGI:1891414 RGD:1562034 610523 292992 HGNC:12370 "ENST00000223208.10|NM_018718.3" HGNC:12370 +HGNC:17012 CEP43 centrosomal protein 43 protein-coding gene gene with protein product Approved 6q27 06q27 FOP FGFR1OP FGFR1 oncogene partner 2003-05-21 2020-01-09 2020-01-09 2020-01-09 11116 ENSG00000213066 OTTHUMG00000016011 uc003qvj.5 Y18046 NM_007045 "CCDS75550|CCDS5297|CCDS5296" O95684 "9949182|10373756" MGI:1922546 RGD:1583370 605392 HGNC:17012 "ENST00000366847.9|NM_007045.4" +HGNC:29356 CEP44 centrosomal protein 44 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 KIAA1712 "KIAA1712|centrosomal protein 44kDa" 2004-01-30 2011-05-06 2016-03-30 2016-10-05 80817 ENSG00000164118 OTTHUMG00000160752 uc063bbf.1 AB051499 NM_030633 "CCDS47163|CCDS34106" Q9C0F1 21399614 MGI:3525111 RGD:1308517 HGNC:29356 "ENST00000503780.6|NM_001040157.3" +HGNC:1161 CEP55 centrosomal protein 55 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "FLJ10540|CT111" cancer/testis antigen 111 C10orf3 "chromosome 10 open reading frame 3|centrosomal protein 55kDa" 2000-08-24 2005-12-01 2016-03-30 2021-05-26 55165 ENSG00000138180 OTTHUMG00000018774 uc001kiq.4 AK001402 NM_018131 CCDS7428 Q53EZ4 "16198290|30622327" MGI:1921357 RGD:1305340 610000 HGNC:1161 "ENST00000371485.8|NM_018131.5" HGNC:1161 +HGNC:30794 CEP57 centrosomal protein 57 protein-coding gene gene with protein product Approved 11q21 11q21 "Translokin|TSP57|KIAA0092" centrosomal protein 57kDa 2005-12-02 2016-03-30 2021-05-26 9702 ENSG00000166037 OTTHUMG00000167740 uc001pfp.2 D42054 NM_014679 "CCDS58166|CCDS86240|CCDS8304|CCDS58167" Q86XR8 7788527 MGI:1915551 RGD:1309884 LRG_526|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_526.xml 607951 270019 HGNC:30794 "ENST00000325542.10|NM_014679.5" HGNC:30794 +HGNC:21561 CEP57L1 centrosomal protein 57 like 1 protein-coding gene gene with protein product Approved 6q21 06q21 "bA487F23.2|MGC21731" C6orf182 "chromosome 6 open reading frame 182|centrosomal protein 57kDa-like 1" 2003-06-24 2010-09-30 2016-03-30 2016-03-30 285753 ENSG00000183137 OTTHUMG00000015336 uc063qnc.1 AK092723 NM_173830 "CCDS87429|CCDS5071|CCDS87427|CCDS64491|CCDS87428" Q8IYX8 MGI:1915511 RGD:1311358 HGNC:21561 "ENST00000517392.6|NM_001271852.3" +HGNC:23521 CEP57L1P1 centrosomal protein 57 like 1 pseudogene 1 pseudogene pseudogene Approved 10q22.1 10q22.1 "C10orf37|C6orf182P" "chromosome 10 open reading frame 37|chromosome 6 open reading frame 182 pseudogene|centrosomal protein 57kDa-like 1 pseudogene 1" 2004-05-27 2010-09-30 2016-03-30 2016-10-05 221017 ENSG00000224725 OTTHUMG00000018406 NG_005976 PGOHUM00000256660 HGNC:23521 +HGNC:25815 CEP63 centrosomal protein 63 protein-coding gene gene with protein product Approved 3q22.2 03q22.2 FLJ13386 centrosomal protein 63kDa 2005-12-01 2016-03-30 2021-05-26 80254 ENSG00000182923 OTTHUMG00000159725 uc003eqo.2 AK056465 NM_025180 "CCDS43153|CCDS3086|CCDS43154|CCDS43152" Q96MT8 "14654843|24240477" MGI:2158560 RGD:1561183 614724 292102 HGNC:25815 "ENST00000675561.1|NM_001353108.3" HGNC:25815 +HGNC:29076 CEP68 centrosomal protein 68 protein-coding gene gene with protein product Approved 2p14 02p14 KIAA0582 "KIAA0582|centrosomal protein 68kDa" 2004-03-29 2005-12-01 2016-03-30 2016-03-30 23177 ENSG00000011523 OTTHUMG00000129538 uc002sdl.5 BC004873 NM_015147 "CCDS1880|CCDS82457" Q76N32 "9628581|9847074|14654843" MGI:2667663 RGD:1309101 616889 HGNC:29076 "ENST00000377990.7|NM_015147.3" +HGNC:29972 CEP70 centrosomal protein 70 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "BITE|FLJ13036" centrosomal protein 70kDa 2005-12-01 2016-03-30 2016-03-30 80321 ENSG00000114107 OTTHUMG00000159891 uc003esl.5 AF202146 NM_024491 "CCDS75022|CCDS75024|CCDS82842|CCDS3102|CCDS75023" Q8NHQ1 14654843 MGI:1915371 RGD:1561486 614310 HGNC:29972 "ENST00000264982.8|NM_024491.4" +HGNC:25547 CEP72 centrosomal protein 72 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "KIAA1519|FLJ10565" centrosomal protein 72kDa 2005-12-01 2016-03-30 2016-03-30 55722 ENSG00000112877 OTTHUMG00000161745 uc003jbf.4 BC000132 NM_018140 CCDS34126 Q9P209 10819331 MGI:1921720 RGD:1566336 616475 HGNC:25547 "ENST00000264935.6|NM_018140.4" +HGNC:55563 CEP72-DT CEP72 divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Divergent transcripts 1990 2021-04-14 2021-04-14 100996325 ENSG00000249650 NR_103444 +HGNC:25727 CEP76 centrosomal protein 76 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "HsT1705|FLJ12542" C18orf9 "chromosome 18 open reading frame 9|centrosomal protein 76kDa" 2004-01-04 2005-12-01 2016-03-30 2016-03-30 79959 ENSG00000101624 OTTHUMG00000131701 uc002kri.5 BC026307 NM_024899 "CCDS11861|CCDS62390" Q8TAP6 14654843 MGI:1923401 RGD:1305183 HGNC:25727 "ENST00000262127.7|NM_024899.4" +HGNC:25740 CEP78 centrosomal protein 78 protein-coding gene gene with protein product Approved 9q21.2 09q21.2 FLJ12643 C9orf81 "chromosome 9 open reading frame 81|centrosomal protein 78kDa" 2004-01-29 2005-12-01 2016-03-30 2021-05-26 84131 ENSG00000148019 OTTHUMG00000020062 uc004aky.5 BC058931 NM_001098802 "CCDS83377|CCDS47984|CCDS47985|CCDS87660|CCDS83378|CCDS83376" Q5JTW2 14654843 MGI:1924386 RGD:620464 617110 HGNC:25740 "ENST00000643273.2|NM_001330691.3" HGNC:25740 +HGNC:17966 CEP83 centrosomal protein 83 protein-coding gene gene with protein product Approved 12q22 12q22 "NY-REN-58|NPHP18" CCDC41 "coiled-coil domain containing 41|centrosomal protein 83kDa" 2005-12-14 2014-03-06 2016-03-30 2021-05-26 51134 ENSG00000173588 OTTHUMG00000170242 AF155115 NM_016122 "CCDS86323|CCDS41820" Q9Y592 "10508479|23348840" MGI:1924298 RGD:1359593 615847 404809 HGNC:17966 "ENST00000397809.10|NM_016122.3" HGNC:17966 +HGNC:27055 CEP83-DT CEP83 divergent transcript non-coding RNA RNA, long non-coding Approved 12q22 12q22 "CCDC41-AS1|CEP83-AS1" "CCDC41 antisense RNA 1 (head to head)|CEP83 antisense RNA 1 (head to head)" Divergent transcripts 1990 2013-05-30 2018-03-22 2018-03-22 2018-03-22 144486 ENSG00000278916 OTTHUMG00000170256 NR_027035 12477932 CEP83-AS1 HGNC:27055 +HGNC:25309 CEP85 centrosomal protein 85 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DKFZP434L0117 CCDC21 "coiled-coil domain containing 21|centrosomal protein 85kDa" 2005-07-21 2011-05-06 2016-03-30 2019-02-18 64793 ENSG00000130695 OTTHUMG00000003380 uc001bls.3 AK024038 NM_022778 "CCDS81285|CCDS277|CCDS60038" Q6P2H3 29712910 MGI:1917262 RGD:1311520 618898 HGNC:25309 "ENST00000451429.8|NM_001319944.2" +HGNC:21638 CEP85L centrosomal protein 85 like protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "NY-BR-15|bA57K17.2" C6orf204 "chromosome 6 open reading frame 204|centrosomal protein 85kDa-like" 2003-11-26 2011-11-25 2016-03-30 2016-03-30 387119 ENSG00000111860 OTTHUMG00000015465 uc003pyb.5 AF308284 NM_001042475 "CCDS5119|CCDS55052|CCDS43498" Q5SZL2 MGI:3642684 RGD:2319745 618865 HGNC:21638 "ENST00000368491.8|NM_001042475.3" HGNC:21638 +HGNC:25907 CEP89 centrosomal protein 89 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 FLJ14640 CCDC123 "coiled-coil domain containing 123|centrosomal protein 89kDa" 2006-08-08 2011-05-06 2016-03-30 2016-07-25 84902 ENSG00000121289 OTTHUMG00000180424 uc002nty.4 AL832158 NM_032816 CCDS32987 Q96ST8 16395595 MGI:1919390 RGD:1311730 615470 470066 HGNC:25907 "ENST00000305768.10|NM_032816.5" HGNC:25907 +HGNC:25141 CEP95 centrosomal protein 95 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 DKFZp667E1824 CCDC45 "coiled-coil domain containing 45|centrosomal protein 95kDa" 2005-12-16 2011-05-06 2016-03-30 2016-10-05 90799 ENSG00000258890 OTTHUMG00000179174 uc002jem.4 AL832822 NM_138363 CCDS45763 Q96GE4 21399614 MGI:2443502 RGD:1309655 HGNC:25141 "ENST00000556440.7|NM_138363.3" +HGNC:26244 CEP97 centrosomal protein 97 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 FLJ23047 LRRIQ2 "leucine-rich repeats and IQ motif containing 2|centrosomal protein 97kDa" 2004-09-01 2008-01-08 2016-03-30 2016-03-30 79598 ENSG00000182504 OTTHUMG00000159162 uc003dvk.2 AL833269 NM_024548 "CCDS77780|CCDS2944" Q8IW35 "17719545|18068367" MGI:1921451 RGD:1307400 615864 HGNC:26244 "ENST00000341893.8|NM_024548.4" +HGNC:24866 CEP104 centrosomal protein 104 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "GlyBP|RP1-286D6.4|CFAP256|ROC22|JBTS25" glycine, glutamate, thienylcyclohexylpiperidine binding protein KIAA0562 "KIAA0562|centrosomal protein 104kDa" "Cilia and flagella associated|TOG domain containing" "1491|1495" 2006-03-20 2011-05-06 2016-03-30 2021-05-26 9731 ENSG00000116198 OTTHUMG00000003507 uc001aky.3 AB011134 NM_014704 CCDS30571 O60308 "7488117|21399614|23970417" MGI:2687282 RGD:708505 616690 448865 HGNC:24866 "ENST00000378230.8|NM_014704.4" HGNC:24866 +HGNC:28514 CEP112 centrosomal protein 112 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 MGC33887 CCDC46 "coiled-coil domain containing 46|centrosomal protein 112kDa" 2005-12-19 2011-05-06 2016-03-30 2016-10-05 201134 ENSG00000154240 OTTHUMG00000179474 uc002jfm.4 AF458591 NM_145036 "CCDS32711|CCDS32710|CCDS77093" Q8N8E3 21399614 MGI:1923673 RGD:1564168 618980 HGNC:28514 "ENST00000535342.7|NM_001199165.4" +HGNC:26690 CEP120 centrosomal protein 120 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 FLJ36090 CCDC100 "coiled-coil domain containing 100|centrosomal protein 120kDa" 2006-04-03 2008-08-14 2016-03-30 2021-05-26 153241 ENSG00000168944 OTTHUMG00000128922 uc003ktk.4 AK095646 NM_153223 "CCDS4134|CCDS54890" Q8N960 17920017 MGI:2147298 RGD:1565619 613446 422916 HGNC:26690 "ENST00000306467.10|NM_001375405.1" HGNC:26690 +HGNC:29264 CEP126 centrosomal protein 126 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 KIAA1377 "KIAA1377|centrosomal protein 126kDa" 2006-02-03 2015-03-12 2016-03-30 2016-10-05 57562 ENSG00000110318 OTTHUMG00000167319 AK095004 NM_020802 CCDS31658 Q9P2H0 "22712476|24867236" MGI:2680221 RGD:1563556 614634 306100 HGNC:29264 "ENST00000263468.13|NM_020802.4" +HGNC:20359 CEP128 centrosomal protein 128 protein-coding gene gene with protein product Approved 14q31.1 14q31.1 "C14orf61|C14orf145" "chromosome 14 open reading frame 61|chromosome 14 open reading frame 145|centrosomal protein 128kDa" 2003-01-28 2011-05-06 2016-03-30 2016-11-16 145508 ENSG00000100629 OTTHUMG00000171442 uc059dxn.1 AK056756 NM_152446 CCDS32130 Q6ZU80 21399614 MGI:1922466 RGD:1595693 HGNC:20359 "ENST00000555265.6|NM_152446.5" +HGNC:29511 CEP131 centrosomal protein 131 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "AZ1|KIAA1118" AZI1 "5-azacytidine induced 1|centrosomal protein 131kDa" 2004-07-15 2014-03-06 2016-03-30 2016-03-30 22994 ENSG00000141577 OTTHUMG00000132728 AB029041 NM_014984 "CCDS32764|CCDS82214|CCDS45808|CCDS82215" Q9UPN4 "10470851|9070930|14654843" MGI:107440 RGD:1307745 613479 HGNC:29511 "ENST00000450824.7|NM_014984.4" HGNC:29511 +HGNC:29086 CEP135 centrosomal protein 135 protein-coding gene gene with protein product Approved 4q12 04q12 FLJ13621 "KIAA0635|CEP4" "KIAA0635|centrosomal protein 4|centrosomal protein 135kDa" 2004-01-28 2005-12-02 2016-03-30 2021-05-26 9662 ENSG00000174799 OTTHUMG00000160748 uc003hbi.5 AB014535 NM_025009 CCDS33986 Q66GS9 "9734811|14654843" MGI:2681869 RGD:1310726 611423 295279 HGNC:29086 "ENST00000257287.5|NM_025009.5" HGNC:29086 +HGNC:29298 CEP152 centrosomal protein 152 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "KIAA0912|SCKL5|MCPH9" asterless centrosomal protein 152kDa 2005-12-01 2016-03-30 2021-05-26 22995 ENSG00000103995 OTTHUMG00000172219 uc001zwy.4 AB020719 NM_014985 "CCDS58361|CCDS42033" O94986 "14654843|21131973" MGI:2139083 RGD:1305348 613529 240669 HGNC:29298 "ENST00000380950.7|NM_001194998.2" HGNC:29298 +HGNC:21107 CEP162 centrosomal protein 162 protein-coding gene gene with protein product Approved 6q14.2-q14.3 06q14.2-q14.3 QN1 "C6orf84|KIAA1009" "chromosome 6 open reading frame 84|KIAA1009|centrosomal protein 162kDa" 2003-05-20 2014-03-06 2016-03-30 2018-02-13 22832 ENSG00000135315 OTTHUMG00000015123 AB023226 NM_014895 "CCDS34494|CCDS69149" Q5TB80 23644468 MGI:1925343 RGD:1307365 610201 HGNC:21107 "ENST00000403245.8|NM_014895.4" +HGNC:29182 CEP164 centrosomal protein 164 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "KIAA1052|NPHP15" centrosomal protein 164kDa 2005-12-01 2016-03-30 2021-05-26 22897 ENSG00000110274 OTTHUMG00000167070 uc001prc.4 AB028975 NM_014956 CCDS31683 Q9UPV0 "10470851|14654843" MGI:2384878 RGD:1561243 614848 313834 HGNC:29182 "ENST00000278935.8|NM_014956.5" HGNC:29182 +HGNC:44988 CEP164P1 centrosomal protein 164 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 centrosomal protein 164kDa pseudogene 1 2013-01-03 2016-03-30 2016-03-30 100289237 ENSG00000226937 OTTHUMG00000018069 NG_032712 PGOHUM00000238442 HGNC:44988 +HGNC:28920 CEP170 centrosomal protein 170 protein-coding gene gene with protein product Approved 1q43 01q43 "KAB|FAM68A" "KARP 1 binding protein|XRCC5 binding protein" KIAA0470 "KIAA0470|centrosomal protein 170kDa" 2005-05-16 2006-01-12 2016-03-30 2016-10-05 9859 ENSG00000143702 OTTHUMG00000039862 uc057qug.1 AB022657 NM_014812 "CCDS44337|CCDS44339|CCDS44338" Q5SW79 15616186 MGI:1918348 RGD:621868 613023 HGNC:28920 "ENST00000366542.6|NM_014812.3" +HGNC:20362 CEP170B centrosomal protein 170B protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "FAM68C|Cep170R" Cep170-related KIAA0284 KIAA0284 2003-11-21 2012-11-30 2012-11-30 2020-04-20 283638 ENSG00000099814 OTTHUMG00000170763 uc010axb.4 AB006622 NM_001112726 "CCDS45175|CCDS45176" Q9Y4F5 23087211 MGI:2145043 RGD:1595689 HGNC:20362 "ENST00000414716.8|NM_001112726.3" +HGNC:28364 CEP170P1 centrosomal protein 170 pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 "MGC26143|FAM68B" "KIAA0470L|CEP170L" "KIAA0470-like|centrosomal protein 170kDa-like|centrosomal protein 170kDa pseudogene 1" 2005-05-16 2010-10-11 2016-03-30 2020-04-20 645455 ENSG00000154608 OTTHUMG00000132958 BC014590 NR_003135.2 Q96L14 RGD:6502250 PGOHUM00000250791 HGNC:28364 +HGNC:25515 CEP192 centrosomal protein 192 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "KIAA1569|FLJ10352|PPP1R62" protein phosphatase 1, regulatory subunit 62 centrosomal protein 192kDa Protein phosphatase 1 regulatory subunits 694 2005-12-01 2016-03-30 2020-01-06 55125 ENSG00000101639 OTTHUMG00000160693 uc060npo.1 AK074074 NM_032142 CCDS32792 Q8TEP8 "11230166|14654843" MGI:1918049 RGD:1562797 616426 HGNC:25515 "ENST00000506447.5|NM_032142.4" +HGNC:55313 CEP192-DT CEP192 divergent transcript non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 RP11-773H22.4 Divergent transcripts 1990 2020-10-19 2021-11-29 119139898 ENSG00000266969 34831321 +HGNC:1859 CEP250 centrosomal protein 250 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 C-NAP1 CEP2 "centrosomal protein 2|centrosomal protein 250kDa" 2000-06-08 2006-01-11 2016-03-30 2021-05-26 11190 ENSG00000126001 OTTHUMG00000032343 uc032pib.2 AF022655 NM_007186 CCDS13255 Q9BV73 "9506584|9647649" MGI:108084 RGD:1562262 609689 HGNC:1859 "ENST00000397527.6|NM_007186.6" HGNC:1859 +HGNC:40143 CEP250-AS1 CEP250 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 Antisense RNAs 1987 2019-07-24 2019-07-24 102725201 ENSG00000230155 OTTHUMG00000055986 XR_936692 HGNC:40143 +HGNC:29021 CEP290 centrosomal protein 290 protein-coding gene gene with protein product Approved 12q21.32 12q21.32 "KIAA0373|FLJ13615|3H11Ag|rd16|NPHP6|JBTS5|SLSN6|LCA10|MKS4|BBS14|CT87|POC3" "Joubert syndrome 5|nephrocystin-6|cancer/testis antigen 87|POC3 centriolar protein homolog (Chlamydomonas)|Meckel syndrome, type 4|Bardet-Biedl syndrome 14" centrosomal protein 290kDa MKS complex 1545 2006-02-20 2016-03-30 2021-05-26 80184 ENSG00000198707 OTTHUMG00000169871 uc001tar.4 AB002371 NM_025114 CCDS55858 O15078 "15474516|16682973|16632484" MGI:2384917 RGD:1311640 LRG_694|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_694.xml 610142 119343 HGNC:29021 "ENST00000552810.6|NM_025114.4" HGNC:29021 +HGNC:29366 CEP295 centrosomal protein 295 protein-coding gene gene with protein product Approved 11q21 11q21 KIAA1731 "KIAA1731|centrosomal protein 295kDa" Small nucleolar RNA protein coding host genes 1835 2005-09-29 2014-09-25 2016-03-30 2016-03-30 85459 ENSG00000166004 OTTHUMG00000167449 AB051518 NM_033395 CCDS44708 Q9C0D2 "20844083|25131205" MGI:2442521 RGD:1311723 617728 HGNC:29366 "ENST00000325212.11|NM_033395.2" +HGNC:44659 CEP295NL CEP295 N-terminal like protein-coding gene gene with protein product Approved 17q25.3 17q25.3 DDC8 KIAA1731NL KIAA1731 N-terminal like 2014-07-30 2015-03-12 2015-03-12 2015-09-07 100653515 ENSG00000178404 OTTHUMG00000177628 NM_001243540 CCDS58603 Q96MC4 MGI:1929713 RGD:1597046 HGNC:44659 "ENST00000322630.3|NM_001243540.2" +HGNC:24238 CEP350 centrosomal protein 350 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "KIAA0480|CAP350" centrosome associated protein 350 centrosomal protein 350kDa 2006-02-15 2016-03-30 2016-03-30 9857 ENSG00000135837 OTTHUMG00000035269 uc001gnt.4 AF287356 NM_014810 CCDS1336 Q5VT06 "16314388|15615782" MGI:1921331 RGD:621162 617870 HGNC:24238 "ENST00000367607.8|NM_014810.5" +HGNC:24289 CEPT1 choline/ethanolamine phosphotransferase 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 2004-11-16 2016-10-05 10390 ENSG00000134255 OTTHUMG00000012357 uc001eah.1 AF068302 NM_006090 CCDS830 Q9Y6K0 "10191259|12216837" MGI:2139793 RGD:1359727 616751 "2.7.8.1|2.7.8.2" HGNC:24289 "ENST00000357172.9|NM_006090.5" +HGNC:1862 CER1 cerberus 1, DAN family BMP antagonist protein-coding gene gene with protein product Approved 9p22.3 09p22.3 DAND4 "cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)|cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)" DAN family 1246 1998-09-25 2013-02-26 2016-10-05 9350 ENSG00000147869 OTTHUMG00000021022 uc003zlj.4 AF090189 NM_005454 CCDS6476 O95813 10049596 MGI:1201414 RGD:1563046 603777 HGNC:1862 "ENST00000380911.4|NM_005454.3" +HGNC:23723 CERCAM cerebral endothelial cell adhesion molecule protein-coding gene gene with protein product Approved 9q34.11 09q34.11 GLT25D3 glycosyltransferase 25 domain containing 3 CEECAM1 cerebral cell adhesion molecule 2003-12-04 2007-10-17 2007-10-17 2020-04-30 51148 ENSG00000167123 OTTHUMG00000020747 uc004buz.5 AB040935 NM_016174 "CCDS6901|CCDS69675" Q5T4B2 10608765 MGI:2139134 RGD:1304778 616626 HGNC:23723 "ENST00000372838.9|NM_016174.5" +HGNC:19256 CERK ceramide kinase protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "hCERK|FLJ23239|dA59H18.3|DKFZp434E0211|FLJ21430|KIAA1646|LK4|dA59H18.2" 2002-10-09 2018-03-13 64781 ENSG00000100422 OTTHUMG00000150395 uc003bia.4 AB079066 NM_022766 CCDS14077 Q8TCT0 "11956206|11258795|19168031" MGI:2386052 RGD:1305019 610307 objectId:2473 2.7.1.138 HGNC:19256 "ENST00000216264.13|NM_022766.6" +HGNC:21699 CERKL ceramide kinase like protein-coding gene gene with protein product Approved 2q31.3 02q31.3 RP26 "retinitis pigmentosa 26 (autosomal recessive)|ceramide kinase-like" 2004-11-26 2015-11-12 2019-06-03 375298 ENSG00000188452 OTTHUMG00000154315 uc010zfm.3 BC020465 NM_001030311 "CCDS42789|CCDS33341|CCDS33340|CCDS46466|CCDS54425" Q49MI3 "14681825|30205735" MGI:3037816 RGD:1561057 608381 119354 HGNC:21699 "ENST00000410087.8|NM_201548.5" HGNC:21699 +HGNC:52664 CERNA1 competing endogenous lncRNA 1 for miR-4707-5p and miR-4767 non-coding RNA RNA, long non-coding Approved 15q21.2 15q21.2 LOC100129973 Long non-coding RNAs with non-systematic symbols 1992 2017-01-04 2017-08-16 100129973 ENSG00000259577 OTTHUMG00000172601 NR_102751 "26887505|28797257" HGNC:52664 +HGNC:51354 CERNA2 competing endogenous lncRNA 2 for microRNA let-7b non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 HOST2 human ovarian cancer specific transcript 2 Long non-coding RNAs with non-systematic symbols 1992 2017-04-27 2020-01-06 642934 ENSG00000285972 "BC033760|BC051760" NR_134505 "25292198|28143959" 617434 HGNC:51354 +HGNC:53469 CERNA3 competing endogenous lncRNA 3 for miR-645 non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 CTA Long non-coding RNAs with non-systematic symbols 1992 2017-05-11 2017-05-11 105375847 ENSG00000253603 OTTHUMG00000164298 NR_149110 28415557 HGNC:53469 +HGNC:53928 CEROX1 cytoplasmic endogenous regulator of oxidative phosphorylation 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Long non-coding RNAs with non-systematic symbols 1992 2019-09-11 2019-09-12 115804232 ENSG00000260807 OTTHUMG00000172822 BC098409 NR_036442 31045494 MGI:1920084 +HGNC:14253 CERS1 ceramide synthase 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "LAG1|UOG1" LASS1 "longevity assurance (LAG1, S. cerevisiae) homolog 1|LAG1 longevity assurance homolog 1 (S. cerevisiae)|LAG1 homolog, ceramide synthase 1" CERS class homeoboxes 530 2000-12-14 2011-07-08 2011-07-08 2021-05-26 10715 ENSG00000223802 OTTHUMG00000183049 uc060vul.1 AF105005 NM_001290265 "CCDS46020|CCDS46021|CCDS77267" P27544 "9872981|2034669" MGI:2136690 RGD:1305974 606919 431615 objectId:2474 HGNC:14253 "ENST00000623882.4|NM_021267.5" HGNC:14253 +HGNC:14076 CERS2 ceramide synthase 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "SP260|FLJ10243" LASS2 "longevity assurance (LAG1, S. cerevisiae) homolog 2|LAG1 longevity assurance homolog 2 (S. cerevisiae)|LAG1 homolog, ceramide synthase 2" CERS class homeoboxes 530 2001-09-10 2011-07-08 2011-07-08 2015-08-24 29956 ENSG00000143418 OTTHUMG00000035064 uc001evz.4 AF189062 NM_022075 CCDS973 Q96G23 11543633 MGI:1924143 RGD:1310059 606920 8573 objectId:2475 HGNC:14076 "ENST00000368954.10|NM_022075.5" +HGNC:23752 CERS3 ceramide synthase 3 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 MGC27091 LASS3 "LAG1 longevity assurance homolog 3 (S. cerevisiae)|LAG1 homolog, ceramide synthase 3" CERS class homeoboxes 530 2003-12-11 2011-07-08 2011-07-08 2021-05-26 204219 ENSG00000154227 OTTHUMG00000172568 uc002bwb.3 NM_178842 CCDS10384 Q8IU89 MGI:2681008 RGD:1564356 615276 8573 364399 objectId:2476 HGNC:23752 "ENST00000679737.1|NM_001378789.1" HGNC:23752 +HGNC:51431 CERS3-AS1 CERS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Antisense RNAs 1987 2014-11-26 2014-11-26 102723320 ENSG00000259430 OTTHUMG00000172308 "AL708976|AI160488" NR_120374 CERS3-AS1 HGNC:51431 +HGNC:23747 CERS4 ceramide synthase 4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ12089|Trh1" LASS4 "LAG1 longevity assurance homolog 4 (S. cerevisiae)|LAG1 homolog, ceramide synthase 4" CERS class homeoboxes 530 2003-12-11 2011-07-08 2011-07-08 2014-11-19 79603 ENSG00000090661 OTTHUMG00000172570 uc002mjg.4 NM_024552 CCDS12197 Q9HA82 MGI:1914510 RGD:1309303 615334 8573 objectId:2477 HGNC:23747 "ENST00000251363.10|NM_024552.3" +HGNC:23749 CERS5 ceramide synthase 5 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "Trh4|MGC45411|FLJ25304" LASS5 "LAG1 longevity assurance homolog 5 (S. cerevisiae)|LAG1 homolog, ceramide synthase 5" CERS class homeoboxes 530 2003-12-11 2011-07-08 2011-07-08 2015-08-27 91012 ENSG00000139624 OTTHUMG00000169819 uc001rwd.6 NM_147190 "CCDS8801|CCDS61120" Q8N5B7 MGI:1919199 RGD:1311597 615335 8573 objectId:2478 HGNC:23749 "ENST00000317551.12|NM_147190.5" +HGNC:23826 CERS6 ceramide synthase 6 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 LASS6 "LAG1 longevity assurance homolog 6 (S. cerevisiae)|LAG1 homolog, ceramide synthase 6" "CERS class homeoboxes|MicroRNA protein coding host genes" "530|1691" 2004-04-30 2011-07-08 2011-07-08 2016-10-05 253782 ENSG00000172292 OTTHUMG00000132183 uc002ueb.3 BX393696 NM_203463 "CCDS58734|CCDS2228" Q6ZMG9 MGI:2442564 RGD:1561599 615336 8573 objectId:2479 HGNC:23826 "ENST00000305747.11|NM_203463.3" +HGNC:44485 CERS6-AS1 CERS6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.3 02q24.3 Antisense RNAs 1987 2012-11-08 2012-11-08 100861402 ENSG00000227617 OTTHUMG00000153980 uc061pgi.1 NR_045786 CERS6-AS1 HGNC:44485 +HGNC:2205 CERT1 ceramide transporter 1 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "GPBP|STARD11|CERT" "ceramide transporter|StAR-related lipid transfer (START) domain containing 11" COL4A3BP "collagen, type IV, alpha 3 (Goodpasture antigen) binding protein|collagen type IV alpha 3 binding protein" "Pleckstrin homology domain containing|StAR related lipid transfer domain containing" "682|759" 1999-07-14 2019-06-10 2019-06-10 2021-05-26 10087 ENSG00000113163 OTTHUMG00000102068 uc011csu.3 AF136450 NM_005713 "CCDS47235|CCDS4028|CCDS4029" Q9Y5P4 "14685229|10212244" MGI:1915268 RGD:1309131 604677 470110 HGNC:2205 "ENST00000643780.2|NM_001379029.1" HGNC:2205 +HGNC:1863 CES1 carboxylesterase 1 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "HMSE|CES2|HMSE1|SES1|CEH|CES1A1|CES1A2" human monocyte/macrophage serine esterase 1 carboxylesterase 1 (monocyte/macrophage serine esterase 1) Carboxylesterases 461 1991-08-07 2010-10-12 2016-10-05 1066 ENSG00000198848 OTTHUMG00000176718 uc002eil.4 BC012418 NM_001266 "CCDS45488|CCDS45489|CCDS32450" P23141 "2070086|20931200" "MGI:1922954|MGI:2142687|MGI:2148202|MGI:3648919|MGI:3779470|MGI:88378|MGI:95420|MGI:95432" RGD:70896 114835 470068 S09.982 objectId:2592 3.1.1.1 HGNC:1863 "ENST00000360526.8|NM_001025195.2" +HGNC:18546 CES1P1 carboxylesterase 1 pseudogene 1 pseudogene pseudogene Approved 16q12.2 16q12.2 "PCE-3|CESR|CES1A3" CES4 "carboxylesterase 4-like|carboxylesterase 4, pseudogene" 2004-02-20 2010-10-12 2010-10-12 2013-07-10 51716 ENSG00000228695 OTTHUMG00000154668 AF106005 NR_003276 Q9UKY3 "10452915|20931200" RGD:2571 PGOHUM00000250685 S09.986 HGNC:18546 +HGNC:48928 CES1P2 carboxylesterase 1 pseudogene 2 pseudogene pseudogene Approved 16q12.2 16q12.2 2013-07-10 2013-07-10 390732 ENSG00000260765 OTTHUMG00000176717 NR_033740 PGOHUM00000250684 HGNC:48928 +HGNC:1864 CES2 carboxylesterase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CE-2|iCE|CES2A1" carboxylesterase 2 (intestine, liver) Carboxylesterases 461 1993-09-30 2010-10-12 2015-09-07 8824 ENSG00000172831 OTTHUMG00000137517 uc002eqr.4 BC032095 NM_003869 "CCDS10825|CCDS45507" O00748 "9169443|9144407|20931200" "MGI:1919153|MGI:1919611|MGI:2142491|MGI:2385905|MGI:2443170|MGI:2448547|MGI:3648740" RGD:1560889 605278 470070 HGNC:1864 "ENST00000317091.10|NM_001365405.1" +HGNC:1865 CES3 carboxylesterase 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ21736|ES31" "esterase 31|brain carboxylesterase BR3" carboxylesterase 3 (brain) Carboxylesterases 461 1999-12-14 2008-07-25 2014-11-19 23491 ENSG00000172828 OTTHUMG00000137525 uc002eqt.4 AK025389 NM_024922 "CCDS54022|CCDS54023|CCDS10826" Q6UWW8 "10518925|14581373|15100172|20931200" "MGI:102773|MGI:3644960" RGD:1588734 605279 HGNC:1865 "ENST00000303334.9|NM_024922.6" +HGNC:26741 CES4A carboxylesterase 4A protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ37464 CES8 carboxylesterase 8 (putative) Carboxylesterases 461 2009-01-27 2010-10-12 2010-10-12 2016-11-16 283848 ENSG00000172824 OTTHUMG00000167866 uc010vix.3 AK094783 NM_173815 "CCDS54025|CCDS42174|CCDS54024" Q5XG92 "12975309|17364878|20931200" MGI:2384581 RGD:1307418 HGNC:26741 +HGNC:26459 CES5A carboxylesterase 5A protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "FLJ31547|CES4C1|CES5|CAUXIN" CES7 carboxylesterase 7 Carboxylesterases 461 2005-10-06 2010-10-12 2010-10-12 2016-10-05 221223 ENSG00000159398 OTTHUMG00000133236 uc002eip.3 AK090997 NM_145024 "CCDS10755|CCDS45490|CCDS54012" Q6NT32 20931200 MGI:1915185 RGD:1549717 618678 S09.960 3.1.1.1 HGNC:26459 "ENST00000290567.14|NM_001143685.2" +HGNC:38516 CES5AP1 carboxylesterase 5A pseudogene 1 pseudogene pseudogene Approved 22q11.23 22q11.23 2010-10-12 2014-11-19 649264 ENSG00000215478 OTTHUMG00000150651 NR_037839 PGOHUM00000246278 HGNC:38516 +HGNC:1866 CETN1 centrin 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 CEN1 CETN centrin, EF-hand protein, 1 EF-hand domain containing 863 1996-10-30 2015-11-13 2015-11-13 1068 ENSG00000177143 OTTHUMG00000131471 uc002kko.2 U03270 NM_004066 CCDS11820 Q12798 8175926 MGI:1347086 RGD:620246 603187 HGNC:1866 "ENST00000327228.5|NM_004066.3" +HGNC:1867 CETN2 centrin 2 protein-coding gene gene with protein product Approved Xq28 Xq28 CEN2 CALT centrin, EF-hand protein, 2 "EF-hand domain containing|Nucleotide excision repair|Transcription and export complex 2" "863|1269|1276" 1997-03-21 2015-11-13 2022-03-14 1069 ENSG00000147400 OTTHUMG00000024246 uc004fgq.4 X72964 NM_004344 CCDS14716 P41208 "7713520|8597638|18387345" MGI:1347085 RGD:620247 300006 HGNC:1867 "ENST00000370277.5|NM_004344.3" +HGNC:1868 CETN3 centrin 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 CEN3 "CDC31 yeast homolog|EF-hand superfamily member" "centrin, EF-hand protein, 3 (CDC31 yeast homolog)|centrin, EF-hand protein, 3" EF-hand domain containing 863 1997-08-22 2015-11-13 2015-11-13 1070 ENSG00000153140 OTTHUMG00000131326 uc003kjo.4 Y12473 NM_004365 "CCDS78036|CCDS4066|CCDS75274" O15182 9256449 MGI:1097706 RGD:620249 602907 HGNC:1868 "ENST00000283122.8|NM_004365.4" +HGNC:35450 CETN4P centrin 4, pseudogene pseudogene pseudogene Approved 4q27 04q27 centrin EF-hand protein 4, pseudogene 2010-03-12 2015-11-13 2020-08-14 729338 ENSG00000224786 OTTHUMG00000150126 NR_024041 MGI:2677454 PGOHUM00000245685 HGNC:35450 +HGNC:1869 CETP cholesteryl ester transfer protein protein-coding gene gene with protein product Approved 16q13 16q13 BPIFF BPI fold containing family F cholesteryl ester transfer protein, plasma BPI fold containing 456 2001-06-22 2016-03-17 2021-05-26 1071 ENSG00000087237 OTTHUMG00000133279 uc002eki.3 M30185 NM_000078 "CCDS10772|CCDS67032" P11597 "3600759|2334701" 118470 119357 HGNC:1869 "ENST00000200676.8|NM_000078.3" HGNC:1869 +HGNC:29523 CFAP20 cilia and flagella associated protein 20 protein-coding gene gene with protein product Approved 16q21 16q21 "GTL3|fSAP23" "functional spliceosome-associated protein 23|flagellar associated protein 20 homolog (Chlamydomonas)" C16orf80 chromosome 16 open reading frame 80 Cilia and flagella associated 1491 2006-08-22 2014-07-03 2014-07-03 2014-11-19 29105 ENSG00000070761 OTTHUMG00000133490 BC005152 NM_013242 CCDS10793 Q9Y6A4 8688464 MGI:107428 RGD:1308493 617906 HGNC:29523 "ENST00000262498.8|NM_013242.3" +HGNC:24763 CFAP20DC CFAP20 domain containing protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "FLJ42117|FLJ42930" C3orf67 chromosome 3 open reading frame 67 2007-12-14 2020-02-03 2020-02-03 2020-02-03 200844 ENSG00000163689 OTTHUMG00000159151 uc003dkt.2 AK124920 NM_198463 CCDS33776 Q6ZVT6 MGI:1926154 RGD:1359720 HGNC:24763 "ENST00000482387.7|NM_001394063.1" +HGNC:41063 CFAP20DC-AS1 CFAP20DC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.2 03p14.2 C3orf67-AS1 C3orf67 antisense RNA 1 Antisense RNAs 1987 2014-04-07 2020-02-03 2020-02-03 2020-02-03 101929238 ENSG00000242428 OTTHUMG00000159203 AK090895 NR_110820 C3orf67-AS1 HGNC:41063 +HGNC:55618 CFAP20DC-DT CFAP20DC divergent transcript non-coding RNA RNA, long non-coding Approved 3p14.2 03p14.2 Divergent transcripts 1990 2021-06-21 2021-06-21 105377110 ENSG00000243295 XR_002959675 +HGNC:30540 CFAP36 cilia and flagella associated protein 36 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "MGC15407|BARTL1" CCDC104 coiled-coil domain containing 104 Cilia and flagella associated 1491 2006-05-02 2014-08-13 2014-08-13 2016-05-17 112942 ENSG00000163001 OTTHUMG00000129339 BC010011 NM_080667 "CCDS62911|CCDS1854" Q96G28 "19680650|26455799" MGI:1913994 RGD:1311732 HGNC:30540 "ENST00000349456.9|NM_080667.7" +HGNC:26684 CFAP43 cilia and flagella associated protein 43 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "FLJ36006|bA373N18.2|FLJ22944" "C10orf79|WDR96" "chromosome 10 open reading frame 79|WD repeat domain 96" "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2004-04-23 2014-07-18 2014-07-18 2021-05-26 80217 ENSG00000197748 OTTHUMG00000019002 AL833836 NM_025145 CCDS31281 Q8NDM7 14702039 MGI:1289258 RGD:1560545 617558 HGNC:26684 "ENST00000357060.8|NM_025145.7" HGNC:26684 +HGNC:25631 CFAP44 cilia and flagella associated protein 44 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ11142 WDR52 WD repeat domain 52 "WD repeat domain containing|Cilia and flagella associated|MicroRNA protein coding host genes" "362|1491|1691" 2005-02-01 2014-07-18 2014-07-18 2021-05-26 55779 ENSG00000206530 OTTHUMG00000159259 AK002004 NM_018338 "CCDS54624|CCDS2972" Q96MT7 28887034 MGI:1277238 RGD:1559942 617559 HGNC:25631 "ENST00000393845.9|NM_001164496.2" HGNC:25631 +HGNC:41113 CFAP44-AS1 CFAP44 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 WDR52-AS1 "WDR52 antisense RNA 1 (non-protein coding)|WDR52 antisense RNA 1" Antisense RNAs 1987 2011-07-25 2014-07-18 2014-07-18 2014-11-18 100874029 ENSG00000243849 OTTHUMG00000159300 NR_046728 CFAP44-AS1 HGNC:41113 +HGNC:17229 CFAP45 cilia and flagella associated protein 45 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 NESG1 CCDC19 coiled-coil domain containing 19 Cilia and flagella associated 1491 2005-07-07 2014-08-13 2014-08-13 2014-11-19 25790 ENSG00000213085 OTTHUMG00000035432 AF094758 NM_012337 CCDS30914 Q9UL16 "10524255|20715168" MGI:1919120 RGD:1561559 605152 HGNC:17229 "ENST00000368099.9|NM_012337.3" +HGNC:25247 CFAP46 cilia and flagella associated protein 46 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "DKFZp434A1721|bA288G11.4|bA288G11.5|bB137A17.2|FLJ25954|bB137A17.3" "C10orf123|C10orf124|C10orf93|C10orf92|TTC40" "chromosome 10 open reading frame 123|chromosome 10 open reading frame 124|chromosome 10 open reading frame 93|chromosome 10 open reading frame 92|tetratricopeptide repeat domain 40" "Tetratricopeptide repeat domain containing|Cilia and flagella associated" "769|1491" 2004-03-16 2014-07-18 2014-07-18 2015-09-07 54777 ENSG00000171811 OTTHUMG00000019292 BC034223 NM_001200049 CCDS58101 Q8IYW2 11230166 MGI:2444387 RGD:1559985 618543 HGNC:25247 "ENST00000368586.10|NM_001200049.3" +HGNC:26708 CFAP47 cilia and flagella associated protein 47 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 "FLJ36601|RP13-11B7.1|MGC34831" "CXorf59|CXorf22|CXorf30|CHDC2" "chromosome X open reading frame 59|chromosome X open reading frame 22|chromosome X open reading frame 30|calponin homology domain containing 2" Cilia and flagella associated 1491 2006-07-11 2015-02-03 2015-02-03 2020-04-02 286464 ENSG00000165164 OTTHUMG00000021351 AK093920 NM_001304548 "CCDS14237|CCDS83464" Q6ZTR5 MGI:3781475 RGD:1587070 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf59 301057 HGNC:26708 "ENST00000378653.8|NM_001304548.2" +HGNC:16053 CFAP52 cilia and flagella associated protein 52 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "WDRPUH|FLJ37528" WD40-repeat protein upregulated in HCC WDR16 WD repeat domain 16 "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2001-07-16 2014-09-29 2014-09-29 2014-11-19 146845 ENSG00000166596 OTTHUMG00000150149 AB065281 NM_145054 "CCDS11149|CCDS42262" Q8N1V2 15967112 MGI:1919110 RGD:1308151 609804 440240 HGNC:16053 "ENST00000352665.10|NM_145054.5" HGNC:16053 +HGNC:26530 CFAP53 cilia and flagella associated protein 53 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 FLJ32743 CCDC11 coiled-coil domain containing 11 Cilia and flagella associated 1491 2005-01-11 2014-09-03 2014-09-03 2021-05-26 220136 ENSG00000172361 OTTHUMG00000132668 BC030606 NM_145020 CCDS11940 Q96M91 22577226 MGI:1921703 RGD:1306734 614759 306106 HGNC:26530 "ENST00000398545.5|NM_145020.5" HGNC:26530 +HGNC:43919 CFAP53P1 CFAP53 pseudogene 1 pseudogene pseudogene Approved 5p13.1 05p13.1 CCDC11P1 coiled-coil domain containing 11 pseudogene 1 2012-05-04 2021-03-24 2021-03-24 2021-03-24 100129040 ENSG00000251515 OTTHUMG00000162073 NG_021844 PGOHUM00000235196 HGNC:43919 +HGNC:26456 CFAP54 cilia and flagella associated protein 54 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FLJ31514|FLJ44112" "C12orf63|C12orf55" "chromosome 12 open reading frame 63|chromosome 12 open reading frame 55|cilia and flagella associated 54" Cilia and flagella associated 1491 2006-01-25 2014-09-04 2016-06-07 2018-11-15 144535 ENSG00000188596 OTTHUMG00000167566 AK056076 NM_001306084 CCDS76588 Q96N23 MGI:1922208 RGD:1589470 HGNC:26456 "ENST00000524981.9|NM_001306084.2" +HGNC:26485 CFAP57 cilia and flagella associated protein 57 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ32000 WDR65 WD repeat domain 65 "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2005-05-13 2014-08-12 2014-08-12 2021-05-26 149465 ENSG00000243710 OTTHUMG00000007285 AK056562 NM_152498 "CCDS479|CCDS72768" Q96MR6 "21574244|22447971" MGI:2686209 RGD:1585948 614259 HGNC:26485 "ENST00000372492.9|NM_001378189.1" +HGNC:26676 CFAP58 cilia and flagella associated protein 58 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "FLJ35908|bA554P13.1" "C10orf80|CCDC147" "chromosome 10 open reading frame 80|coiled-coil domain containing 147" Cilia and flagella associated 1491 2004-02-18 2014-07-31 2014-07-31 2021-05-26 159686 ENSG00000120051 OTTHUMG00000019007 BX641120 NM_001008723 CCDS31282 Q5T655 MGI:2685815 RGD:1307961 619129 HGNC:26676 "ENST00000369704.8|NM_001008723.2" +HGNC:45243 CFAP58-DT CFAP58 divergent transcript non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 lncITPRIP-1 "CCDC147-AS1|CFAP58-AS1" "CCDC147 antisense RNA 1|CCDC147 antisense RNA 1 (head to head)|CFAP58 antisense RNA 1 (head to head)" Divergent transcripts 1990 2013-03-11 2018-03-22 2018-03-22 2018-06-15 100505869 ENSG00000231233 OTTHUMG00000019005 "BI551201|BX093559|DB476363" NR_108036 29899107 CFAP58-AS1 HGNC:45243 +HGNC:15872 CFAP61 cilia and flagella associated protein 61 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "DKFZP434K156|dJ1002M8.3|CaM-IP3" hypothetical protein LOC26074 C20orf26 chromosome 20 open reading frame 26 Cilia and flagella associated 1491 2001-06-21 2014-07-31 2014-07-31 2014-11-18 26074 ENSG00000089101 OTTHUMG00000032006 AL117439 NM_015585 "CCDS54452|CCDS33447" Q8NHU2 "11780052|17967944" MGI:1926024 RGD:1311519 HGNC:15872 "ENST00000245957.10|NM_015585.4" +HGNC:40731 CFAP61-AS1 CFAP61 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 Antisense RNAs 1987 2019-07-24 2019-07-24 101929575 ENSG00000243810 OTTHUMG00000159256 XR_244251 HGNC:40731 +HGNC:25325 CFAP65 cilia and flagella associated protein 65 protein-coding gene gene with protein product Approved 2q35 02q35 "DKFZp434O0527|MGC35338" CCDC108 coiled-coil domain containing 108 Cilia and flagella associated 1491 2006-05-18 2015-10-23 2015-10-23 2021-05-26 255101 ENSG00000181378 OTTHUMG00000133013 uc002vjl.3 "AL833882|AK127189" NM_194302 "CCDS63126|CCDS2431|CCDS63125|CCDS2430" Q6ZU64 22761584 MGI:2444274 RGD:1563002 614270 HGNC:25325 "ENST00000341552.10|NM_194302.4" HGNC:25325 +HGNC:26107 CFAP69 cilia and flagella associated protein 69 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 "FLJ21062|FAP69" "hypothetical protein FLJ21062|flagellar protein 69 homolog (Chlamydomonas)" C7orf63 chromosome 7 open reading frame 63 "Cilia and flagella associated|Armadillo like helical domain containing" "1491|1492" 2008-07-21 2014-07-31 2014-07-31 2021-05-26 79846 ENSG00000105792 OTTHUMG00000023434 "AK024715|AY349356" NM_001039706 "CCDS43613|CCDS55122" A5D8W1 29606301 MGI:2443778 RGD:6496360 617949 HGNC:26107 "ENST00000389297.8|NM_001039706.3" HGNC:26107 +HGNC:30726 CFAP70 cilia and flagella associated protein 70 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ25765 TTC18 tetratricopeptide repeat domain 18 "Tetratricopeptide repeat domain containing|Cilia and flagella associated" "769|1491" 2004-04-22 2014-09-03 2014-09-03 2016-10-05 118491 ENSG00000156042 OTTHUMG00000018459 AF435959 NM_145170 Q5T0N1 MGI:1923920 RGD:1307577 618661 HGNC:30726 HGNC:30726 +HGNC:37100 CFAP73 cilia and flagella associated protein 73 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 MIA2 CCDC42B coiled-coil domain containing 42B Cilia and flagella associated 1491 2009-06-19 2015-10-13 2015-10-13 2015-10-13 387885 ENSG00000186710 OTTHUMG00000169655 NM_001144872 CCDS44983 A6NFT4 23569216 MGI:3779542 RGD:1561303 HGNC:37100 "ENST00000335621.11|NM_001144872.3" +HGNC:29368 CFAP74 cilia and flagella associated protein 74 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ45476 "C1orf222|KIAA1751" "chromosome 1 open reading frame 222|KIAA1751" Cilia and flagella associated 1491 2005-05-16 2014-09-04 2014-09-04 2015-08-24 85452 ENSG00000142609 OTTHUMG00000000945 AB051538 NM_001304360 Q9C0B2 MGI:1917130 RGD:2324110 HGNC:29368 "ENST00000682832.2|NM_001304360.2" +HGNC:33776 CFAP77 cilia and flagella associated protein 77 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 FLJ46082 C9orf171 chromosome 9 open reading frame 171 Cilia and flagella associated 1491 2009-03-05 2015-10-06 2015-10-06 2015-10-06 389799 ENSG00000188523 OTTHUMG00000131684 AK128819 NM_207417 "CCDS65167|CCDS6949" Q6ZQR2 25169055 MGI:2685669 RGD:1564114 HGNC:33776 "ENST00000393216.3|NM_001282957.2" +HGNC:24010 CFAP91 cilia and flagella associated protein 91 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "AAT1|AAT1alpha|SPATA26|CaM-IP2|AAT-1" "AMY-1-associating protein expressed in testis 1|MYCBP-binding protein|spermatogenesis associated 26" "C3orf15|MAATS1" "chromosome 3 open reading frame 15|MYCBP/AMY-1-associated, testis expressed 1|MYCBP-associated, testis expressed 1|MYCBP associated and testis expressed 1" 2004-07-26 2020-02-03 2020-02-03 2020-02-03 89876 ENSG00000183833 OTTHUMG00000159422 uc003ede.4 AB063296 NM_033364 CCDS2994 Q7Z4T9 "12223483|14551891|17967944" MGI:2443598 RGD:1305539 609910 HGNC:24010 "ENST00000273390.9|NM_033364.4" +HGNC:29231 CFAP92 cilia and flagella associated protein 92 (putative) protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "FLJ43738|FAP92" KIAA1257 KIAA1257 2005-03-01 2020-01-30 2020-01-31 2020-01-31 57501 ENSG00000114656 OTTHUMG00000159946 uc003elj.5 AB033083 NM_020741 "CCDS87133|CCDS46905" Q9ULG3 10574462 MGI:3586838 RGD:2323785 HGNC:29231 "ENST00000645291.3|NM_001394090.1" +HGNC:31422 CFAP95 cilia and flagella associated protein 95 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 C9orf135 chromosome 9 open reading frame 135 2006-06-30 2021-09-02 2021-09-02 2021-09-02 138255 ENSG00000204711 OTTHUMG00000019985 uc004ahl.4 NM_001010940 "CCDS78403|CCDS35041" Q5VTT2 28345668 MGI:1914733 RGD:1560242 HGNC:31422 "ENST00000377197.8|NM_001010940.3" +HGNC:48713 CFAP95-DT CFAP95 divergent transcript non-coding RNA RNA, long non-coding Approved 9q21.12 09q21.12 "C9orf135-AS1|C9orf135-DT" "C9orf135 antisense RNA 1 (head to head)|C9orf135 divergent transcript" Divergent transcripts 1990 2013-06-07 2021-09-09 2021-09-09 2021-09-09 494558 ENSG00000225626 OTTHUMG00000019983 NR_038833 C9orf135-AS1 HGNC:48713 +HGNC:29276 CFAP97 cilia and flagella associated protein 97 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "DKFZp434F1728|hmw" KIAA1430 KIAA1430 Cilia and flagella associated 1491 2004-04-21 2014-07-31 2014-07-31 2018-11-15 57587 ENSG00000164323 OTTHUMG00000160468 AB037851 NM_020827 "CCDS75216|CCDS47168" Q9P2B7 "10718198|24554765|26638075" MGI:1914006 RGD:1307325 616047 HGNC:29276 "ENST00000458385.7|NM_020827.3" +HGNC:37241 CFAP97D1 CFAP97 domain containing 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 C17orf105 chromosome 17 open reading frame 105 2009-09-09 2017-12-06 2017-12-06 2017-12-06 284067 ENSG00000231256 OTTHUMG00000180890 uc002ieg.4 NM_001136483 CCDS45695 B2RV13 MGI:1922687 RGD:1565533 HGNC:37241 "ENST00000449302.8|NM_001136483.3" +HGNC:53789 CFAP97D2 CFAP97 domain containing 2 protein-coding gene gene with protein product Approved 13q34 13q34 2017-12-06 2017-12-06 101929355 ENSG00000283361 OTTHUMG00000191665 NM_001395229 A0A1B0GU71 MGI:2685952 HGNC:53789 +HGNC:54528 CFAP97P1 CFAP97 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 2019-10-11 2020-01-21 100418722 ENSG00000271164 NG_026926 HGNC:54528 +HGNC:51180 CFAP99 cilia and flagella associated protein 99 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 Cilia and flagella associated 1491 2014-08-01 2016-07-29 402160 ENSG00000206113 OTTHUMG00000160515 NM_001193282 CCDS75092 D6REC4 MGI:5434801 RGD:1564567 HGNC:51180 +HGNC:26842 CFAP100 cilia and flagella associated protein 100 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "FLJ40083|MIA1" CCDC37 coiled-coil domain containing 37 Cilia and flagella associated 1491 2005-11-02 2015-10-13 2015-10-13 2016-10-05 348807 ENSG00000163885 OTTHUMG00000162691 AK097402 NM_182628 CCDS3037 Q494V2 23569216 MGI:2141635 RGD:1305768 HGNC:26842 "ENST00000352312.6|NM_182628.3" +HGNC:49641 CFAP100-DT CFAP100 divergent transcript non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 "CCDC37-AS1|CCDC37-DT" "CCDC37 antisense RNA 1 (head to head)|CCDC37 divergent transcript" Divergent transcripts 1990 2014-01-28 2021-04-12 2021-04-12 2021-04-12 100506907 ENSG00000249833 OTTHUMG00000162688 NR_103787 CCDC37-AS1 HGNC:49641 +HGNC:28567 CFAP107 cilia and flagella associated protein 107 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 MGC35194 C1orf158 chromosome 1 open reading frame 158 2005-07-15 2021-09-02 2021-09-02 2021-09-02 93190 ENSG00000157330 OTTHUMG00000001888 uc001auh.4 BX647383 NM_152290 "CCDS81264|CCDS147" Q8N1D5 31921204 MGI:1916614 RGD:1587426 HGNC:28567 "ENST00000614859.5|NM_152290.4" +HGNC:28078 CFAP119 cilia and flagella associated protein 119 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC104706 "C16orf93|CCDC189" "chromosome 16 open reading frame 93|coiled-coil domain containing 189" 2009-04-06 2021-09-02 2021-09-02 2021-09-02 90835 ENSG00000196118 OTTHUMG00000167926 BC042548 NM_001014979 "CCDS32434|CCDS55993" A1A4V9 MGI:2685012 RGD:1593368 618318 HGNC:28078 "ENST00000543610.6|NM_001014979.3" +HGNC:32325 CFAP126 cilia and flagella associated protein 126 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "Flattop|Fltp" C1orf192 chromosome 1 open reading frame 192 Cilia and flagella associated 1491 2005-10-11 2014-10-13 2014-10-13 2019-08-15 257177 ENSG00000188931 OTTHUMG00000034462 NM_001013625 CCDS30921 Q5VTH2 25296022 MGI:1922722 RGD:1562658 616119 HGNC:32325 "ENST00000367974.2|NM_001013625.4" +HGNC:32305 CFAP141 cilia and flagella associated protein 141 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 C1orf189 chromosome 1 open reading frame 189 2005-09-27 2021-09-02 2021-09-02 2021-09-02 388701 ENSG00000163263 OTTHUMG00000035982 uc001fee.3 NM_001010979 CCDS30876 Q5VU69 MGI:1920795 RGD:1564171 HGNC:32305 "ENST00000368525.4|NM_001010979.3" +HGNC:27843 CFAP157 cilia and flagella associated protein 157 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 C9orf117 chromosome 9 open reading frame 117 Cilia and flagella associated 1491 2004-03-25 2015-10-05 2015-10-05 2015-10-05 286207 ENSG00000160401 OTTHUMG00000020709 AK094948 NM_001012502 CCDS43878 Q5JU67 23300604 MGI:2447809 RGD:1560002 HGNC:27843 "ENST00000373295.7|NM_001012502.3" +HGNC:26782 CFAP161 cilia and flagella associated protein 161 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 FLJ38615 C15orf26 chromosome 15 open reading frame 26 Cilia and flagella associated 1491 2004-06-29 2015-10-05 2015-10-05 2015-10-05 161502 ENSG00000156206 OTTHUMG00000172263 AK095934 NM_173528 CCDS42068 Q6P656 24094744 MGI:1922806 RGD:1310371 HGNC:26782 "ENST00000286732.5|NM_173528.4" +HGNC:21405 CFAP206 cilia and flagella associated protein 206 protein-coding gene gene with protein product Approved 6q15 06q15 "FLJ25974|dJ382I10.1" C6orf165 chromosome 6 open reading frame 165 Cilia and flagella associated 1491 2003-06-12 2015-10-05 2015-10-05 2015-10-05 154313 ENSG00000272514 OTTHUMG00000015173 BC035083 NM_178823 CCDS34498 Q8IYR0 22753897 MGI:1916579 RGD:1310641 HGNC:21405 "ENST00000369562.9|NM_001031743.3" +HGNC:25064 CFAP210 cilia and flagella associated protein 210 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 LOC129881 hypothetical LOC129881 "C2orf77|CCDC173" "chromosome 2 open reading frame 77|coiled-coil domain containing 173" 2008-07-18 2021-08-19 2021-08-19 2021-08-19 129881 ENSG00000154479 OTTHUMG00000154116 uc002ufe.3 "BC015980|BC117445" NM_001085447 CCDS46445 Q0VFZ6 12477932 MGI:1923100 RGD:1308818 HGNC:25064 "ENST00000447353.6|NM_001085447.2" +HGNC:33720 CFAP221 cilia and flagella associated protein 221 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "FAP221|PCDP1" "flagellar associated protein 221 homolog (Chlamydomonas)|primary ciliary dyskinesia 1 homolog (mouse)" Cilia and flagella associated 1491 2014-07-03 2016-04-25 200373 ENSG00000163075 OTTHUMG00000153310 NM_001271049 CCDS33282 Q4G0U5 "18039845|20421426" MGI:2684947 RGD:1584968 618704 HGNC:33720 "ENST00000413369.8|NM_001271049.2" HGNC:33720 +HGNC:28506 CFAP251 cilia and flagella associated protein 251 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "MGC33630|CaM-IP4" WDR66 WD repeat domain 66 WD repeat domain containing 362 2005-05-26 2020-03-12 2020-03-12 2020-03-12 144406 ENSG00000158023 OTTHUMG00000168948 uc009zxk.4 AL833930 NM_144668 "CCDS53840|CCDS41853" Q8TBY9 17967944 MGI:1918495 RGD:1564948 618146 471334 HGNC:28506 "ENST00000288912.9|NM_144668.6" HGNC:28506 +HGNC:32331 CFAP276 cilia and flagella associated protein 276 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 C1orf194 chromosome 1 open reading frame 194 2006-06-30 2021-09-09 2021-09-09 2022-01-13 127003 ENSG00000179902 OTTHUMG00000011735 uc009wev.4 NM_001122961 CCDS41364 Q5T5A4 31199454 MGI:1922754 RGD:1309139 618682 HGNC:32331 "ENST00000369948.8|NM_001245025.3" HGNC:32331 +HGNC:1301 CFAP298 cilia and flagella associated protein 298 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "FLJ20467|FBB18|CILD26|Kur|DNAAF16" "kurly homolog (zebrafish)|dynein axonemal assembly factor 16" "C21orf48|C21orf59" "chromosome 21 open reading frame 48|chromosome 21 open reading frame 59" "Cilia and flagella associated|Axonemal dynein assembly factors" "1491|1627" 2000-06-28 2018-02-02 2018-02-02 2021-11-26 56683 ENSG00000159079 OTTHUMG00000179510 uc002yqc.4 AF282851 NM_021254 "CCDS13617|CCDS86984|CCDS86985" P57076 "30228263|24094744|26904945" MGI:1915251 RGD:1306954 615494 367619 HGNC:1301 "ENST00000290155.8|NM_021254.4" HGNC:1301 +HGNC:54636 CFAP298-TCP10L CFAP298-TCP10L readthrough other readthrough Approved 21q22.11 21q22.11 FLJ10932 "LINC00846|C21orf77" "long intergenic non-protein coding RNA 846|chromosome 21 open reading frame 77" 2019-10-23 2020-01-22 110091775 ENSG00000265590 NM_001350338 +HGNC:28554 CFAP299 cilia and flagella associated protein 299 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 C4orf22 chromosome 4 open reading frame 22 Cilia and flagella associated 1491 2006-05-22 2018-02-02 2018-02-02 2019-03-29 255119 ENSG00000197826 OTTHUMG00000130289 uc003hmf.3 BC034296 NM_152770 "CCDS3587|CCDS56336" Q6V702 30820741 MGI:1916571 RGD:1597725 HGNC:28554 "ENST00000358105.8|NM_152770.3" +HGNC:28188 CFAP300 cilia and flagella associated protein 300 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "MGC13040|FBB5|DNAAF17" dynein axonemal assembly factor 17 C11orf70 chromosome 11 open reading frame 70 Cilia and flagella associated 1491 2006-03-31 2018-02-02 2018-02-02 2021-11-29 85016 ENSG00000137691 OTTHUMG00000167320 uc001pgp.4 AK094851 NM_032930 "CCDS8313|CCDS53698" Q9BRQ4 "29727692|29727693|30916986" MGI:3045346 RGD:1591894 618058 HGNC:28188 "ENST00000434758.7|NM_032930.3" HGNC:28188 +HGNC:1260 CFAP410 cilia and flagella associated protein 410 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "YF5|A2|LRRC76" "nuclear encoded mitochondrial protein|leucine rich repeat containing 76" C21orf2 chromosome 21 open reading frame 2 1998-08-06 2018-07-05 2018-07-05 2021-05-26 755 ENSG00000160226 OTTHUMG00000086909 uc002zep.2 Y11392 NM_004928 "CCDS13709|CCDS59444|CCDS59445" O43822 "9465297|26974433|26290490|27548899" MGI:1915134 RGD:1309594 603191 470022 HGNC:1260 "ENST00000339818.9|NM_004928.3" HGNC:1260 +HGNC:27232 CFAP418 cilia and flagella associated protein 418 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "FLJ30600|CORD16|RP64|BBS21|FAP418|MOT25" "cone-rod dystrophy 16|Bardet-Biedl syndrome 21" C8orf37 chromosome 8 open reading frame 37 2005-07-27 2021-05-06 2021-05-06 2021-05-06 157657 ENSG00000156172 OTTHUMG00000164663 uc003yho.3 AK055162 NM_177965 CCDS6268 Q96NL8 "22177090|26854863" MGI:1914407 RGD:1549749 614477 288971 HGNC:27232 "ENST00000286688.6|NM_177965.4" HGNC:27232 +HGNC:50444 CFAP418-AS1 CFAP418 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 tospeak C8orf37-AS1 C8orf37 antisense RNA 1 Antisense RNAs 1987 2014-04-29 2021-05-07 2021-05-07 2021-05-07 100616530 ENSG00000253773 OTTHUMG00000164661 NR_038201 C8orf37-AS1 HGNC:50444 +HGNC:1037 CFB complement factor B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 H2-Bf "BFD|BF" B-factor, properdin "Sushi domain containing|Complement system activation components" "1179|1638" 1986-01-01 2006-02-10 2006-02-10 2021-04-13 629 ENSG00000243649 OTTHUMG00000031198 uc063wuq.1 L15702 NM_001710 CCDS4729 P00751 MGI:105975 RGD:2204 LRG_136|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_136.xml 138470 158379 S01.196 objectId:2339 3.4.21.47 HGNC:1037 "ENST00000425368.7|NM_001710.6" HGNC:1037 +HGNC:18292 CFC1 cripto, FRL-1, cryptic family 1 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 CRYPTIC HTX2 heterotaxy 2 (autosomal dominant) 2004-02-04 2021-05-26 55997 ENSG00000136698 OTTHUMG00000131628 uc002tro.3 AF312769 NM_032545 "CCDS2162|CCDS74573|CCDS74574" P0CG37 "11062482|10858660" MGI:109448 605194 119359 HGNC:18292 "ENST00000259216.6|NM_032545.4" HGNC:18292 +HGNC:33983 CFC1B cripto, FRL-1, cryptic family 1B protein-coding gene gene with protein product Approved 2q21.1 02q21.1 2008-01-31 2018-10-31 653275 ENSG00000152093 OTTHUMG00000153959 uc002trl.3 NM_001079530 CCDS33286 P0CG36 MGI:109448 RGD:1562188 HGNC:33983 "ENST00000281882.8|NM_001079530.2" +HGNC:2771 CFD complement factor D protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ADN adipsin "DF|PFD" "D component of complement (adipsin)|properdin factor D|complement factor D (adipsin)" "Granule associated serine proteases of immune defence|Complement system activation components" "1636|1638" 1992-10-21 2006-02-10 2016-05-06 2021-04-13 1675 ENSG00000197766 OTTHUMG00000181840 uc002lqc.4 M84526 NM_001928 "CCDS12046|CCDS82261" P00746 1374388 MGI:87931 RGD:2498 "CFDbase: Mutation registry for Factor D deficiency (previously known as DFbase)|http://structure.bmc.lu.se/idbase/CFDbase/|LRG_46|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_46.xml" 134350 221187 S01.191 objectId:2842 HGNC:2771 "ENST00000327726.11|NM_001928.4" HGNC:2771 +HGNC:1873 CFDP1 craniofacial development protein 1 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "BCNT|p97|CP27|SWC5|Yeti|CENP-29" "Bucentaur|centromere protein 29" 1999-12-09 2018-06-14 10428 ENSG00000153774 OTTHUMG00000137615 uc002fdy.4 AB009285 NM_006324 CCDS10916 Q9UEE9 "9602175|9006920|11992732|28367969" MGI:1344403 RGD:735080 608108 HGNC:1873 "ENST00000283882.4|NM_006324.3" +HGNC:4883 CFH complement factor H protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "HUS|FHL1|ARMS1|ARMD4" "beta-1H|H factor 2 (complement)|age-related maculopathy susceptibility 1" "HF|HF1|HF2" H factor 1 (complement) "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1986-01-01 2004-08-12 2004-08-09 2021-05-26 3075 ENSG00000000971 OTTHUMG00000035607 uc001gtj.4 Y00716 NM_000186 "CCDS1385|CCDS53452" P08603 "2889480|2963625" MGI:88385 RGD:620428 "CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)|http://structure.bmc.lu.se/idbase/CFHbase/|LRG_47|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_47.xml" 134370 119363 HGNC:4883 "ENST00000367429.9|NM_000186.4" HGNC:4883 +HGNC:4888 CFHR1 complement factor H related 1 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "H36-1|FHR1|CFHL|H36-2" "HFL1|CFHL1|CFHR1P|HFL2|CFHL1P" "H factor (complement)-like 1|complement factor H-related 1 pseudogene|H factor (complement)-like 2|complement factor H-related 1" "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1991-11-15 2006-02-28 2016-01-19 2021-05-26 3078 ENSG00000244414 OTTHUMG00000036276 uc001gtn.4 M65292 NM_002113 CCDS1386 Q03591 "1711047|1826708|31273197" MGI:2138169 RGD:1310510 LRG_149|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_149.xml 134371 286578 HGNC:4888 "ENST00000320493.10|NM_002113.3" HGNC:4888 +HGNC:4890 CFHR2 complement factor H related 2 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 FHR2 "HFL3|CFHL2" "H factor (complement)-like 3|complement factor H-related 2" "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 1993-10-18 2006-02-28 2016-01-19 2021-05-26 3080 ENSG00000080910 OTTHUMG00000036518 uc001gtq.2 X64877 NM_005666 CCDS30959 P36980 "1533657|7672821" MGI:2138169 LRG_1216|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1216.xml 600889 HGNC:4890 "ENST00000367415.8|NM_005666.4" +HGNC:16980 CFHR3 complement factor H related 3 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "FHR-3|HLF4|FHR3|DOWN16" CFHL3 complement factor H-related 3 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2004-08-09 2006-02-28 2016-01-19 2021-05-26 10878 ENSG00000116785 OTTHUMG00000035929 uc001gtl.4 X68679 NM_021023 "CCDS30958|CCDS53453" Q02985 "8428964|10380701" MGI:3611575 RGD:1564614 LRG_175|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_175.xml 605336 286593 HGNC:16980 "ENST00000367425.9|NM_021023.6" +HGNC:16979 CFHR4 complement factor H related 4 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "FHR-4|FHR4" CFHL4 complement factor H-related 4 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2004-08-09 2006-02-28 2016-01-19 2021-05-26 10877 ENSG00000134365 OTTHUMG00000036647 uc009wyy.3 "X98337|AJ640130" NM_006684 "CCDS41451|CCDS55671" Q92496 "9038172|10380701" "MGI:88385|MGI:3611575" RGD:1584079 LRG_1224|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1224.xml 605337 474489 HGNC:16979 "ENST00000608469.6|NM_001201550.3" +HGNC:24668 CFHR5 complement factor H related 5 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "FHR5|FHR-5" factor H related protein 5 CFHL5 complement factor H-related 5 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2004-08-09 2006-02-28 2016-01-19 2021-05-26 81494 ENSG00000134389 OTTHUMG00000036517 uc001gts.5 AF295327 NM_030787 CCDS1387 Q9BXR6 "11058592|12041828" LRG_227|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_227.xml 608593 286604 HGNC:24668 "ENST00000256785.5|NM_030787.4" HGNC:24668 +HGNC:5394 CFI complement factor I protein-coding gene gene with protein product Approved 4q25 04q25 "FI|C3b-INA|KAF" "Konglutinogen-activating factor|C3b-inactivator" IF I factor (complement) "Scavenger receptor cysteine rich domain containing|Complement system regulators and receptors" "1404|1639" 1986-01-01 2006-02-10 2006-02-10 2021-04-13 3426 ENSG00000205403 OTTHUMG00000161109 uc003hzr.5 J02770 NM_000204 "CCDS34049|CCDS82945|CCDS82946" P05156 2956252 MGI:105937 RGD:620429 "CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)|http://structure.bmc.lu.se/idbase/CFIbase/|LRG_48|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_48.xml" 217030 119371 S01.199 3.4.21.45 HGNC:5394 "ENST00000394634.7|NM_000204.5" HGNC:5394 +HGNC:1874 CFL1 cofilin 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 CFL cofilin 1 (non-muscle) 1991-07-16 2016-01-19 2016-01-19 1072 ENSG00000172757 OTTHUMG00000166602 uc001oft.4 X95404 NM_005507 CCDS8114 P23528 8800436 MGI:101757 RGD:69285 601442 HGNC:1874 "ENST00000308162.10|NM_005507.3" +HGNC:28560 CFL1P1 cofilin 1 pseudogene 1 pseudogene pseudogene Approved 10q23.31 10q23.31 MGC35136 CFLP1 cofilin pseudogene 1 2004-04-15 2011-04-18 2016-01-19 2016-10-05 142913 ENSG00000223820 OTTHUMG00000018684 NG_004788 12477932 PGOHUM00000238876 HGNC:28560 +HGNC:1878 CFL1P2 cofilin 1 pseudogene 2 pseudogene pseudogene Approved 1p32.3 01p32.3 "CFLL2|CFLP2" "cofilin-like 2|cofilin pseudogene 2" 1991-06-03 2011-04-18 2016-01-19 2016-01-19 391039 ENSG00000213478 OTTHUMG00000008194 XR_017560 PGOHUM00000244022 HGNC:1878 +HGNC:1879 CFL1P3 cofilin 1 pseudogene 3 pseudogene pseudogene Approved 1p31.3 01p31.3 "CFLL3|CFLP3" "cofilin-like 3|cofilin pseudogene 3" 1991-06-03 2011-04-18 2016-01-19 2016-01-19 100131874 ENSG00000228056 OTTHUMG00000009021 NG_008819 PGOHUM00000244055 HGNC:1879 +HGNC:1880 CFL1P4 cofilin 1 pseudogene 4 pseudogene pseudogene Approved 1q43 01q43 "CFLL4|CFLP4" "cofilin-like 4|cofilin pseudogene 4" 1991-06-03 2011-04-18 2016-01-19 2016-01-19 645980 ENSG00000213026 OTTHUMG00000039864 NG_008824 PGOHUM00000245278 HGNC:1880 +HGNC:1877 CFL1P5 cofilin 1 pseudogene 5 pseudogene pseudogene Approved 5q13.2 05q13.2 "CFLL1|CFLP5" "cofilin-like 1|cofilin pseudogene 5" 1991-06-03 2011-04-18 2016-01-19 2016-01-19 1074 ENSG00000213830 OTTHUMG00000162502 NG_008755 PGOHUM00000235250 HGNC:1877 +HGNC:34545 CFL1P6 cofilin 1 pseudogene 6 pseudogene pseudogene Approved 1p36.22 01p36.22 CFLP6 cofilin pseudogene 6 2008-08-29 2011-04-18 2016-01-19 2016-01-19 390996 ENSG00000215785 OTTHUMG00000002033 NG_032826 PGOHUM00000243889 HGNC:34545 +HGNC:39959 CFL1P7 cofilin 1 pseudogene 7 pseudogene pseudogene Approved 3p24.2 03p24.2 2011-04-18 2016-01-19 2016-01-19 100505919 ENSG00000213877 OTTHUMG00000155603 NG_029013 PGOHUM00000237963 HGNC:39959 +HGNC:39960 CFL1P8 cofilin 1 pseudogene 8 pseudogene pseudogene Approved 13q32.3 13q32.3 2011-04-18 2016-01-19 2016-01-19 100873812 ENSG00000234239 OTTHUMG00000017274 NG_032369 PGOHUM00000257962 HGNC:39960 +HGNC:1875 CFL2 cofilin 2 protein-coding gene gene with protein product Approved 14q13.1 14q13.1 NEM7 nemaline myopathy type 7 cofilin 2 (muscle) 1995-07-11 2016-01-19 2021-05-26 1073 ENSG00000165410 OTTHUMG00000029536 uc001wsh.4 AF087867 NM_138638 "CCDS9650|CCDS58311|CCDS9649" Q9Y281 8800436 MGI:101763 RGD:1306982 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=CFL2|LRG_213|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_213.xml" 601443 119377 HGNC:1875 "ENST00000298159.11|NM_138638.5" HGNC:1875 +HGNC:1876 CFLAR CASP8 and FADD like apoptosis regulator protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CASH|Casper|CLARP|FLAME|FLIP|I-FLICE|MRIT|c-FLIP|cFLIP" CASP8AP1 CASP8 and FADD-like apoptosis regulator "Receptor ligands|Death effector domain containing|Ripoptosome|Death inducing signaling complex " "542|1019|1340|1342" 1999-05-07 2015-11-12 2019-02-25 8837 ENSG00000003402 OTTHUMG00000132819 uc002uxb.5 AF005774 NM_003879 "CCDS46487|CCDS56158|CCDS2337|CCDS56157|CCDS59436|CCDS77505|CCDS77503" O15519 "9208847|9217161" MGI:1336166 RGD:620847 603599 C14.971 ligandId:5188 HGNC:1876 "ENST00000309955.8|NM_003879.7" +HGNC:14437 CFLAR-AS1 CFLAR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 ALS2CR10 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 10|CFLAR antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2001-01-26 2011-04-28 2012-08-15 2016-12-07 65072 ENSG00000226312 OTTHUMG00000154713 uc002uxh.2 AB053312 NR_040030 27855375 CFLAR-AS1 HGNC:14437 +HGNC:8864 CFP complement factor properdin protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 PFC properdin P factor, complement Complement system activation components 1638 1989-06-07 2006-03-02 2006-03-02 2021-04-13 5199 ENSG00000126759 OTTHUMG00000021451 uc004dih.4 M83652 NM_002621 CCDS14282 P27918 1783405 MGI:97545 RGD:1594557 "PFCbase: Mutation registry for properdin deficiency|http://structure.bmc.lu.se/idbase/CFPbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CFP|LRG_129|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_129.xml" 300383 119379 HGNC:8864 "ENST00000396992.8|NM_001145252.3" HGNC:8864 +HGNC:1884 CFTR CF transmembrane conductance regulator protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "MRP7|ABC35|TNR-CFTR|dJ760C5.1|CFTR/MRP" ATP-binding cassette sub-family C, member 7 "CF|ABCC7" cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) "Chloride channels, ATP-gated CFTR|ATP binding cassette subfamily C" "309|807" 1986-01-01 2019-05-16 2021-05-26 1080 ENSG00000001626 OTTHUMG00000023076 uc003vjd.4 M28668 NM_000492 CCDS5773 P13569 2772657 MGI:88388 RGD:2332 "Cystic Fibrosis|http://www.genet.sickkids.on.ca/cftr/|LRG_663|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_663.xml" 602421 119382 objectId:707 HGNC:1884 "ENST00000003084.11|NM_000492.4" HGNC:1884 +HGNC:40144 CFTR-AS1 CFTR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 BGas Antisense RNAs 1987 2017-07-26 2018-08-16 111082987 ENSG00000232661 OTTHUMG00000066356 BG213071 NR_149084 27434588 HGNC:40144 +HGNC:16182 CFTRP1 CFTR pseudogene 1 pseudogene pseudogene Approved 20p11.1 20p11.1 dJ760C5.1 C20orf189 "chromosome 20 open reading frame 189|cystic fibrosis transmembrane conductance regulator pseudogene 1" 2001-07-17 2010-12-17 2019-05-13 2019-05-13 140871 ENSG00000228593 OTTHUMG00000032142 AL078587 NG_002787 PGOHUM00000296935 HGNC:16182 +HGNC:51351 CFTRP2 CFTR pseudogene 2 pseudogene pseudogene Approved 20q11.1 20q11.1 cystic fibrosis transmembrane conductance regulator pseudogene 2 2014-10-14 2019-05-13 2019-05-13 107080633 ENSG00000282921 OTTHUMG00000191534 NG_046396 PGOHUM00000297088 HGNC:51351 +HGNC:51352 CFTRP3 CFTR pseudogene 3 pseudogene pseudogene Approved 20q11.1 20q11.1 cystic fibrosis transmembrane conductance regulator pseudogene 3 2014-10-14 2019-05-13 2019-05-13 106481718 ENSG00000204555 OTTHUMG00000032151 NG_043365 PGOHUM00000296949 HGNC:51352 +HGNC:1885 CGA glycoprotein hormones, alpha polypeptide protein-coding gene gene with protein product Approved 6q14.3 06q14.3 "HCG|GPHa|GPHA1|FSHA|LHA|TSHA|GPA1" "follicle-stimulating hormone alpha subunit|chorionic gonadotropin, alpha polypeptide|luteinizing hormone alpha chain|lutropin alpha chain|thyroid-stimulating hormone alpha chain|glycoprotein hormones alpha chain" "Receptor ligands|Glycoprotein hormone subunits" "542|1896" 1986-01-01 2019-05-09 1081 ENSG00000135346 OTTHUMG00000015161 uc003plj.3 V00518 NM_000735 "CCDS75492|CCDS5007" P01215 6286817 MGI:88390 RGD:620436 118850 470072 ligandId:3731 HGNC:1885 "ENST00000627148.3|NM_000735.4" +HGNC:21367 CGAS cyclic GMP-AMP synthase protein-coding gene gene with protein product Approved 6q13 06q13 "C6orf150|MB21D1" "chromosome 6 open reading frame 150|Mab-21 domain containing 1" 2003-06-10 2017-10-03 2017-10-03 2020-04-30 115004 ENSG00000164430 OTTHUMG00000015034 uc003pgx.2 BC012928 NM_138441 CCDS4978 Q8N884 23258413 MGI:2442261 RGD:1586939 613973 objectId:3165 2.7.7.86 HGNC:21367 "ENST00000370315.4|NM_138441.3" +HGNC:16721 CGB1 chorionic gonadotropin subunit beta 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "chorionic gonadotropin, beta polypeptide 1|chorionic gonadotropin beta subunit 1" Glycoprotein hormone subunits 1896 2001-12-05 2018-04-23 2018-04-23 114335 ENSG00000267631 OTTHUMG00000150186 uc002plx.4 S80935 NM_033377 CCDS12751 A6NKQ9 6194155 MGI:96782 608823 HGNC:16721 "ENST00000301407.8|NM_033377.2" +HGNC:16722 CGB2 chorionic gonadotropin subunit beta 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "chorionic gonadotropin, beta polypeptide 2|chorionic gonadotropin beta subunit 2" Glycoprotein hormone subunits 1896 2001-12-05 2018-04-23 2018-04-23 114336 ENSG00000104818 OTTHUMG00000150185 uc002plw.4 K03184 NM_033378 CCDS12750 Q6NT52 6194155 MGI:96782 608824 HGNC:16722 "ENST00000359342.7|NM_033378.2" +HGNC:1886 CGB3 chorionic gonadotropin subunit beta 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 CGB "chorionic gonadotropin, beta polypeptide|chorionic gonadotropin beta subunit 3" "Receptor ligands|Glycoprotein hormone subunits" "542|1896" 2001-06-22 2016-01-12 2018-04-23 2018-04-23 1082 ENSG00000104827 OTTHUMG00000180605 uc002plv.3 J00117 NM_000737 CCDS12749 P0DN86 "6774259|6194155" 118860 ligandId:4396 HGNC:1886 "ENST00000357383.4|NM_000737.5" +HGNC:16452 CGB5 chorionic gonadotropin subunit beta 5 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 HCG "chorionic gonadotropin, beta polypeptide 5|chorionic gonadotropin beta subunit 5" Glycoprotein hormone subunits 1896 2001-12-05 2018-04-23 2018-04-23 93659 ENSG00000189052 OTTHUMG00000183337 uc002ply.4 X00265 NM_033043 CCDS12752 P0DN86 6194155 608825 HGNC:16452 "ENST00000301408.7|NM_033043.2" +HGNC:16451 CGB7 chorionic gonadotropin subunit beta 7 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 CG-beta-a "chorionic gonadotropin, beta polypeptide 7|chorionic gonadotropin beta subunit 7" Glycoprotein hormone subunits 1896 2001-12-05 2018-04-23 2018-04-23 94027 ENSG00000196337 OTTHUMG00000183339 uc061ayv.1 K00092 NM_033142 CCDS33071 P0DN87 6194155 MGI:96782 608826 HGNC:16451 "ENST00000684222.1|NM_001385261.1" +HGNC:16453 CGB8 chorionic gonadotropin subunit beta 8 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "chorionic gonadotropin, beta polypeptide 8|chorionic gonadotropin beta subunit 8" Glycoprotein hormone subunits 1896 2001-12-05 2018-04-23 2018-04-23 94115 ENSG00000213030 OTTHUMG00000180609 uc002pmb.5 BG435249 NM_033183 CCDS12753 P0DN86 6194155 MGI:96782 608827 HGNC:16453 "ENST00000448456.4|NM_033183.3" +HGNC:1888 CGGBP1 CGG triplet repeat binding protein 1 protein-coding gene gene with protein product Approved 3p11.1 03p11.1 "p20-CGGBP|CGGBP" p20-CGG binding protein 1999-04-29 2015-01-28 8545 ENSG00000163320 OTTHUMG00000159009 uc003dqu.4 AJ000258 NM_001008390 CCDS43111 Q9UFW8 "9201980|14667814" MGI:2146370 RGD:1308129 603363 HGNC:1888 "ENST00000482016.6|NM_001008390.2" +HGNC:17429 CGN cingulin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 KIAA1319 2003-07-24 2016-10-05 57530 ENSG00000143375 OTTHUMG00000012497 uc009wmw.4 AB037740 NM_020770 CCDS999 Q9P2M7 "11042084|12529927" MGI:1927237 RGD:1311992 609473 HGNC:17429 "ENST00000271636.12|NM_020770.3" +HGNC:25931 CGNL1 cingulin like 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "FLJ14957|JACOP|KIAA1749|PCING" "junction-associated coiled-coil protein|paracingulin" 2004-11-10 2016-06-27 2016-06-27 84952 ENSG00000128849 OTTHUMG00000166485 uc002aeg.3 AY274808 NM_032866 CCDS10161 Q0VF96 "11214970|22315225" MGI:1915428 RGD:1304623 607856 HGNC:25931 "ENST00000281282.6|NM_032866.5" +HGNC:16962 CGREF1 cell growth regulator with EF-hand domain 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 CGR11 EF-hand domain containing 863 2003-09-29 2016-04-25 10669 ENSG00000138028 OTTHUMG00000152009 uc021vfa.2 BC034764 NM_006569 "CCDS33162|CCDS54339" Q99674 8968090 MGI:1915817 RGD:620801 606137 HGNC:16962 "ENST00000402394.6|NM_006569.6" +HGNC:15528 CGRRF1 cell growth regulator with ring finger domain 1 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "CGR19|RNF197" Ring finger proteins 58 2003-09-29 2015-08-24 10668 ENSG00000100532 OTTHUMG00000140308 uc001xay.4 BC015063 NM_006568 CCDS9719 Q99675 8968090 MGI:1916368 RGD:620803 606138 HGNC:15528 "ENST00000216420.12|NM_006568.3" +HGNC:1907 CH25H cholesterol 25-hydroxylase protein-coding gene gene with protein product Approved 10q23.31 10q23.31 Fatty acid hydroxylase domain containing 552 1999-11-11 2021-09-17 9023 ENSG00000138135 OTTHUMG00000018705 uc001kfz.4 AF059212 NM_003956 CCDS7400 O95992 9852097 MGI:1333869 RGD:1310575 604551 1.14.99.38 HGNC:1907 "ENST00000371852.4|NM_003956.4" +HGNC:28680 CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 MGC4504 gamma-GCT acting on glutathione homolog 1 ChaC, cation transport regulator homolog 1 (E. coli) 2005-10-25 2016-05-16 2020-03-10 79094 ENSG00000128965 OTTHUMG00000130208 uc059hwj.1 BC019625 NM_024111 CCDS10070 Q9BUX1 23070364 MGI:1916315 RGD:1307153 614587 470074 4.3.2.7 HGNC:28680 "ENST00000617768.5|NM_024111.6" +HGNC:32363 CHAC2 ChaC glutathione specific gamma-glutamylcyclotransferase 2 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 GCG1 gamma-GCT acting on glutathione homolog 2 "ChaC, cation transport regulator-like 2 (E. coli)|ChaC, cation transport regulator homolog 2 (E. coli)" 2005-10-25 2020-03-10 2020-03-10 494143 ENSG00000143942 OTTHUMG00000151824 uc002rxk.2 BC025376 NM_001008708 CCDS33196 Q8WUX2 "23070364|27913623" MGI:1915294 RGD:1309120 617446 4.3.2.7 HGNC:32363 "ENST00000295304.5|NM_001008708.4" +HGNC:1909 CHAD chondroadherin protein-coding gene gene with protein product Approved 17q21.33 17q21.33 SLRR4A chondroadherin proteoglycan Small leucine rich repeat proteoglycans 573 1997-07-11 2014-11-19 1101 ENSG00000136457 OTTHUMG00000162129 uc010dbr.4 U96767 NM_001267 CCDS11568 O15335 9344663 MGI:1096866 RGD:2336 602178 HGNC:1909 "ENST00000508540.6|NM_001267.3" +HGNC:25165 CHADL chondroadherin like protein-coding gene gene with protein product Approved 22q13.2 22q13.2 SLRR4B chondroadherin-like 2007-11-21 2015-12-01 2015-12-01 150356 ENSG00000100399 OTTHUMG00000150936 uc003azq.5 BC012882 NM_138481 CCDS46715 Q6NUI6 25451920 MGI:3036284 RGD:6504353 616236 HGNC:25165 "ENST00000216241.14|NM_138481.2" +HGNC:53620 CHAER1 cardiac hypertrophy associated epigenetic regulator 1 non-coding RNA RNA, long non-coding Approved 4q12 04q12 Chaer Long non-coding RNAs with non-systematic symbols 1992 2018-10-18 2018-10-18 105377667 XR_001741701 27618650 MGI:5624990 HGNC:53620 +HGNC:1910 CHAF1A chromatin assembly factor 1 subunit A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CAF1P150|CAF1B|CAF-1|CAF1|P150|MGC71229" chromatin assembly factor I (150 kDa) chromatin assembly factor 1, subunit A (p150) 1999-09-29 2015-11-23 2019-08-21 10036 ENSG00000167670 OTTHUMG00000181922 uc002mal.4 U20979 NM_005483 CCDS32875 Q13111 7600578 MGI:1351331 RGD:1590865 601246 HGNC:1910 "ENST00000301280.10|NM_005483.3" +HGNC:1911 CHAF1B chromatin assembly factor 1 subunit B protein-coding gene gene with protein product Approved 21q22.12-q22.13 21q22.12-q22.13 "CAF1P60|CAF-1|CAF1|CAF1A|MPP7|MPHOSPH7" "M-phase phosphoprotein 7|Chromatin assembly factor I, p60 subunit|human chromatin assembly factor-I p60 subunit" chromatin assembly factor 1, subunit B (p60) WD repeat domain containing 362 1999-09-29 2015-11-23 2018-02-13 8208 ENSG00000159259 OTTHUMG00000086606 uc002yvj.4 U20980 NM_005441 CCDS13644 Q13112 "7600578|8792829" MGI:1314881 RGD:1307634 601245 HGNC:1911 "ENST00000314103.6|NM_005441.3" HGNC:1911 +HGNC:20311 CHAMP1 chromosome alignment maintaining phosphoprotein 1 protein-coding gene gene with protein product Approved 13q34 13q34 "CAMP|CHAMP" chromosome alignment-maintaining phosphoprotein "C13orf8|ZNF828" "chromosome 13 open reading frame 8|zinc finger protein 828" Zinc fingers C2H2-type 28 2003-01-24 2011-10-07 2011-10-07 2021-05-26 283489 ENSG00000198824 OTTHUMG00000017404 uc001vuv.4 AK074894 NM_032436 CCDS9545 Q96JM3 21063390 MGI:1196398 RGD:1311283 616327 460746 HGNC:20311 "ENST00000361283.4|NM_032436.4" HGNC:20311 +HGNC:48626 CHASERR CHD2 adjacent suppressive regulatory RNA non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 LINC01578 long intergenic non-protein coding RNA 1578 Long non-coding RNAs with non-systematic symbols 1992 2014-11-21 2020-05-22 2020-05-22 2020-05-22 100507217 ENSG00000272888 OTTHUMG00000149845 NR_037601 31704914 MGI:1916420 LINC01578 HGNC:48626 +HGNC:1912 CHAT choline O-acetyltransferase protein-coding gene gene with protein product Approved 10q11.23 10q11.23 choline acetyltransferase 1990-03-14 2010-05-11 2016-10-05 1103 ENSG00000070748 OTTHUMG00000018198 uc001jhz.2 AF305907 NM_020549 "CCDS7233|CCDS44389|CCDS7232" P28329 1840566 MGI:88392 RGD:1304627 118490 119387 objectId:2480 2.3.1.6 HGNC:1912 "ENST00000337653.7|NM_020549.5" HGNC:1912 +HGNC:23518 CHCHD1 coiled-coil-helix-coiled-coil-helix domain containing 1 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ25854 C10orf34 chromosome 10 open reading frame 34 Coiled-coil-helix-coiled-coil-helix domain containing proteins 489 2004-04-30 2004-01-19 2017-07-06 118487 ENSG00000172586 OTTHUMG00000018475 uc001jvc.5 AK098720 NM_203298 CCDS7334 Q96BP2 MGI:1913371 RGD:1307134 608842 HGNC:23518 "ENST00000372833.6|NM_203298.3" +HGNC:21645 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "MIX17B|MNRR1" "MIX17 homolog B|mitochondrial nuclear retrograde regulator 1" C7orf17 chromosome 7 open reading frame 17 Coiled-coil-helix-coiled-coil-helix domain containing proteins 489 2003-07-14 2004-01-21 2004-01-19 2022-02-24 51142 ENSG00000106153 OTTHUMG00000129429 uc003tsa.4 AF078845 NM_016139 CCDS5526 Q9Y6H1 "23303788|27308501|32338760|35173147" MGI:1261428 RGD:1309819 616244 HGNC:21645 "ENST00000395422.4|NM_016139.4" HGNC:21645 +HGNC:39585 CHCHD2P1 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2011-03-16 2014-11-19 100874506 ENSG00000226902 OTTHUMG00000022333 NG_032323 PGOHUM00000241993 HGNC:39585 +HGNC:39586 CHCHD2P2 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 2 pseudogene pseudogene Approved 5q13.2 05q13.2 2011-03-16 2014-11-19 728324 ENSG00000215006 OTTHUMG00000162501 NG_028950 PGOHUM00000235617 HGNC:39586 +HGNC:39587 CHCHD2P3 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 3 pseudogene pseudogene Approved 19q13.11 19q13.11 2011-03-16 2016-07-25 100128110 ENSG00000270849 OTTHUMG00000184270 NG_028973 PGOHUM00000295336 HGNC:39587 +HGNC:39588 CHCHD2P4 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 4 pseudogene pseudogene Approved 6q23.2 06q23.2 2011-03-16 2014-11-19 100874507 ENSG00000213118 OTTHUMG00000015614 NG_032324 PGOHUM00000243382 HGNC:39588 +HGNC:39589 CHCHD2P5 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 5 pseudogene pseudogene Approved 1p22.1 01p22.1 2011-03-16 2014-11-18 100874508 ENSG00000223490 OTTHUMG00000057597 NG_032325 PGOHUM00000244108 HGNC:39589 +HGNC:39590 CHCHD2P6 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 6 pseudogene pseudogene Approved 1p36.21 01p36.21 2011-03-16 2014-11-19 645317 ENSG00000235084 OTTHUMG00000002360 NG_028927 PGOHUM00000244613 HGNC:39590 +HGNC:39591 CHCHD2P7 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 7 pseudogene pseudogene Approved 4q22.1 04q22.1 2011-03-16 2014-11-19 100874509 ENSG00000249973 OTTHUMG00000160999 NG_032326 PGOHUM00000245620 HGNC:39591 +HGNC:39592 CHCHD2P8 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 8 pseudogene pseudogene Approved 13q12.2 13q12.2 2011-03-16 2014-11-19 646630 ENSG00000235115 OTTHUMG00000016643 NG_006975 PGOHUM00000248553 HGNC:39592 +HGNC:23676 CHCHD2P9 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 9 pseudogene pseudogene Approved 9q21.31 09q21.31 "C9orf49|CHCHD9" coiled-coil-helix-coiled-coil-helix domain containing 9 2005-12-22 2011-03-16 2011-03-16 2016-10-05 645345 ENSG00000186940 OTTHUMG00000020069 AL450243 NG_009939 Q5T1J5 PGOHUM00000250528 HGNC:23676 +HGNC:39593 CHCHD2P10 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 10 pseudogene pseudogene Approved 8q11.23 08q11.23 2011-03-16 2014-11-19 392221 NG_028946 PGOHUM00000249344 HGNC:39593 +HGNC:49029 CHCHD2P11 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 11 pseudogene pseudogene Approved 13q14.11 13q14.11 2013-08-13 2013-08-13 101060040 ENSG00000270809 OTTHUMG00000184722 PGOHUM00000248386 HGNC:49029 +HGNC:21906 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 protein-coding gene gene with protein product Approved 7q32.3-q33 07q32.3-q33 "FLJ20420|MINOS3|PPP1R22|Mic19|MICOS19" "mitochondrial inner membrane organizing system 3|protein phosphatase 1, regulatory subunit 22|mitochondrial contact site and cristae organizing system subunit 19" "Coiled-coil-helix-coiled-coil-helix domain containing proteins|Protein phosphatase 1 regulatory subunits|Mitochondrial contact site and cristae organizing system subunits|MicroRNA protein coding host genes" "489|694|1616|1691" 2004-01-19 2018-11-16 54927 ENSG00000106554 OTTHUMG00000155231 uc003vre.4 BC011596 NM_017812 "CCDS5828|CCDS87549" Q9NX63 "22252321|23019327|21081504|17624330" MGI:1913325 RGD:1310325 613748 470076 HGNC:21906 "ENST00000262570.10|NM_017812.4" +HGNC:44697 CHCHD3P1 coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 1 pseudogene pseudogene Approved 10p14 10p14 2012-12-04 2012-12-04 338591 ENSG00000236420 OTTHUMG00000017649 NG_022161 PGOHUM00000238673 HGNC:44697 +HGNC:44698 CHCHD3P2 coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 2 pseudogene pseudogene Approved 12q21.1 12q21.1 2012-12-04 2012-12-04 100422354 ENSG00000257723 OTTHUMG00000169680 NG_024109 PGOHUM00000239851 HGNC:44698 +HGNC:44699 CHCHD3P3 coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 3 pseudogene pseudogene Approved 1p36.11 01p36.11 2012-12-04 2012-12-04 646572 ENSG00000214973 OTTHUMG00000004279 NG_030193 PGOHUM00000243946 HGNC:44699 +HGNC:26467 CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "FLJ31709|TIMM40|MIA40" "translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)|mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)" Coiled-coil-helix-coiled-coil-helix domain containing proteins 489 2004-01-19 2021-02-04 131474 ENSG00000163528 OTTHUMG00000129805 uc003byj.5 BC017082 NM_144636 "CCDS2617|CCDS43054" Q8N4Q1 "16185709|22214851" MGI:1919420 RGD:1310746 611077 470078 HGNC:26467 "ENST00000396914.4|NM_001098502.2" +HGNC:44489 CHCHD4P1 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1 pseudogene pseudogene Approved 7q21.2 07q21.2 2012-11-12 2012-11-12 645862 NG_009441 PGOHUM00000233469 HGNC:44489 +HGNC:44490 CHCHD4P2 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 2 pseudogene pseudogene Approved 9q31.2 09q31.2 2012-11-12 2012-11-12 100128657 ENSG00000237360 OTTHUMG00000020455 NG_030088 PGOHUM00000236305 HGNC:44490 +HGNC:44491 CHCHD4P3 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 3 pseudogene pseudogene Approved 9p13.2 09p13.2 2012-11-12 2013-09-05 106480792 ENSG00000236156 OTTHUMG00000019913 NG_008135 HGNC:44491 +HGNC:44492 CHCHD4P4 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 4 pseudogene pseudogene Approved 3p25.3 03p25.3 2012-11-12 2012-11-12 728143 ENSG00000213964 OTTHUMG00000155252 NG_030101 PGOHUM00000237531 HGNC:44492 +HGNC:44493 CHCHD4P5 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 5 pseudogene pseudogene Approved 1q44 01q44 2012-11-12 2012-11-12 106479039 ENSG00000225222 OTTHUMG00000057839 NG_044415 PGOHUM00000245287 HGNC:44493 +HGNC:17840 CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "MGC11104|MIC14|MIX14" mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae) C2orf9 chromosome 2 open reading frame 9 Coiled-coil-helix-coiled-coil-helix domain containing proteins 489 2002-01-29 2004-01-21 2004-01-19 2017-07-07 84269 ENSG00000125611 OTTHUMG00000131312 uc002thz.2 BC004498 NM_032309 CCDS2098 Q9BSY4 22842048 MGI:1913420 RGD:1307809 616978 HGNC:17840 "ENST00000324913.10|NM_032309.4" +HGNC:28184 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "MGC13016|PPP1R23|CHCM1|Mic25|MICOS25" "protein phosphatase 1, regulatory subunit 23|coiled-coil-helix cristae morphology 1|mitochondrial contact site and cristae organizing system subunit 25" "Coiled-coil-helix-coiled-coil-helix domain containing proteins|Protein phosphatase 1 regulatory subunits|Mitochondrial contact site and cristae organizing system subunits" "489|694|1616" 2004-01-19 2018-11-16 84303 ENSG00000159685 OTTHUMG00000159601 uc003ejf.3 BC006123 NM_032343 CCDS3041 Q9BRQ6 "17624330|22228767" MGI:1913348 RGD:1304561 615634 470080 HGNC:28184 "ENST00000290913.8|NM_032343.3" +HGNC:28314 CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "MGC2217|COX23" COX23 cytochrome c oxidase assembly homolog (S. cerevisiae) "Coiled-coil-helix-coiled-coil-helix domain containing proteins|Mitochondrial respiratory chain complex assembly factors" "489|645" 2004-01-19 2016-10-05 79145 ENSG00000170791 OTTHUMG00000074081 uc003xsx.4 AK095922 NM_024300 "CCDS6166|CCDS34896|CCDS83294|CCDS55232|CCDS55233|CCDS34895" Q9BUK0 "20922212|22842048" MGI:1913683 RGD:1592689 CHCHD7 611238 HGNC:28314 "ENST00000355315.8|NM_001011671.3" +HGNC:15559 CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "N27C7-4|MIX17A" MIX17 homolog A C22orf16 chromosome 22 open reading frame 16 Coiled-coil-helix-coiled-coil-helix domain containing proteins 489 2004-06-24 2008-06-13 2008-06-13 2022-02-24 400916 ENSG00000250479 OTTHUMG00000150736 uc062cgg.1 AB050774 NM_213720 "CCDS13815|CCDS77659" Q8WYQ3 "24934289|32369233|35173147" MGI:2143558 RGD:1359417 615903 406765 HGNC:15559 "ENST00000484558.3|NM_213720.3" HGNC:15559 +HGNC:1915 CHD1 chromodomain helicase DNA binding protein 1 protein-coding gene gene with protein product Approved 5q15-q21.1 05q15-q21.1 1998-03-20 2021-05-26 1105 ENSG00000153922 OTTHUMG00000162744 uc063frt.1 AF006513 NM_001270 CCDS34204 O14646 "8460153|9326634" MGI:88393 RGD:1306794 602118 HGNC:1915 "ENST00000614616.5|NM_001270.4" HGNC:1915 +HGNC:52907 CHD1-DT CHD1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q21.1 05q21.1 LINC02062 long intergenic non-protein coding RNA 2062 Divergent transcripts 1990 2016-12-16 2021-04-23 2021-04-23 2021-04-23 102724810 ENSG00000248489 OTTHUMG00000162749 NR_151718 HGNC:52907 +HGNC:1916 CHD1L chromodomain helicase DNA binding protein 1 like protein-coding gene gene with protein product Approved 1q21.1 01q21.1 ALC1 amplified in liver cancer 1 Macro domain containing 1693 1999-05-28 2016-05-26 2016-05-26 9557 ENSG00000131778 OTTHUMG00000150271 uc001epm.6 AF054177 NM_004284 "CCDS58021|CCDS927" Q86WJ1 9653160 MGI:1915308 RGD:1311935 613039 470082 HGNC:1916 "ENST00000369258.8|NM_004284.6" HGNC:1916 +HGNC:1917 CHD2 chromodomain helicase DNA binding protein 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "FLJ38614|DKFZp547I1315|DKFZp781D1727|DKFZp686E01200" "DNA helicases|MicroRNA protein coding host genes" "1167|1691" 1998-03-20 2021-05-26 1106 ENSG00000173575 OTTHUMG00000185958 uc002bsp.4 AF006514 NM_001271 "CCDS10374|CCDS45356" O14647 9326634 MGI:2448567 RGD:1310056 LRG_1425|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1425.xml 602119 361114 HGNC:1917 "ENST00000394196.9|NM_001271.4" HGNC:1917 +HGNC:1918 CHD3 chromodomain helicase DNA binding protein 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "Mi-2a|ZFH|Mi2-ALPHA" "PHD finger proteins|NuRD complex subunits|Small nucleolar RNA protein coding host genes" "88|1305|1835" 1998-03-20 2021-05-26 1107 ENSG00000170004 OTTHUMG00000150427 uc002gjd.3 U08379 NM_001005273 "CCDS32554|CCDS32555|CCDS32553" Q12873 "9326634|7560064" MGI:1344395 RGD:1311923 602120 HGNC:1918 "ENST00000330494.12|NM_001005273.3" HGNC:1918 +HGNC:1919 CHD4 chromodomain helicase DNA binding protein 4 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "Mi-2b|Mi2-BETA" "PHD finger proteins|NuRD complex subunits|Small nucleolar RNA protein coding host genes" "88|1305|1835" 1998-03-20 2021-05-26 1108 ENSG00000111642 OTTHUMG00000169164 uc001qpo.4 X86691 NM_001273 "CCDS8552|CCDS76510|CCDS86267" Q14839 "7575689|27235397" MGI:1344380 RGD:620064 CHD4 603277 470084 HGNC:1919 "ENST00000544040.7|NM_001273.5" HGNC:1919 +HGNC:16816 CHD5 chromodomain helicase DNA binding protein 5 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "PHD finger proteins|NuRD complex subunits" "88|1305" 2002-11-29 2021-05-26 26038 ENSG00000116254 OTTHUMG00000000952 uc001amb.3 AF425231 NM_015557 CCDS57 Q8TDI0 "11889561|12592387" MGI:3036258 RGD:1582725 610771 470086 HGNC:16816 "ENST00000262450.8|NM_015557.3" HGNC:16816 +HGNC:19057 CHD6 chromodomain helicase DNA binding protein 6 protein-coding gene gene with protein product Approved 20q12 20q12 "KIAA1335|FLJ22369|dJ620E11.1|CHD5|RIGB" Myb/SANT domain containing 532 2003-03-07 2016-10-25 84181 ENSG00000124177 OTTHUMG00000032487 uc002xka.3 AF525085 NM_032221 CCDS13317 Q8TD26 11889561 MGI:1918639 RGD:1310465 616114 470090 HGNC:19057 "ENST00000373233.8|NM_032221.5" +HGNC:20626 CHD7 chromodomain helicase DNA binding protein 7 protein-coding gene gene with protein product Approved 8q12.2 08q12.2 "KIAA1416|FLJ20357|FLJ20361" CRG CHARGE association "Myb/SANT domain containing|DNA helicases" "532|1167" 2004-06-22 2021-05-26 55636 ENSG00000171316 OTTHUMG00000165332 uc003xue.4 AB037837 NM_017780 "CCDS47865|CCDS83299" Q9P2D1 "15300250|18834967" MGI:2444748 RGD:1311921 LRG_176|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_176.xml 608892 119389 HGNC:20626 "ENST00000423902.7|NM_017780.4" HGNC:20626 +HGNC:20153 CHD8 chromodomain helicase DNA binding protein 8 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA1564|DUPLIN" HELSNF1 helicase with SNF2 domain 1 Small nucleolar RNA protein coding host genes 1835 2002-12-18 2004-06-23 2004-06-22 2021-05-26 57680 ENSG00000100888 OTTHUMG00000170759 uc001was.3 AB046784 NM_020920 "CCDS45081|CCDS53885" Q9HCK8 16949368 MGI:1915022 RGD:620696 610528 321632 HGNC:20153 "ENST00000646647.2|NM_001170629.2" HGNC:20153 +HGNC:25701 CHD9 chromodomain helicase DNA binding protein 9 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "FLJ12178|KIAA0308|BC022889" 2004-06-22 2019-08-20 80205 ENSG00000177200 OTTHUMG00000173188 uc002egy.4 AK022240 NM_025134 "CCDS76865|CCDS45485" Q3L8U1 9205841 MGI:1924001 RGD:1306795 616936 HGNC:25701 "ENST00000447540.6|NM_001308319.2" +HGNC:24288 CHDH choline dehydrogenase protein-coding gene gene with protein product Approved 3p21.1 03p21.1 2004-11-24 2016-10-05 55349 ENSG00000016391 OTTHUMG00000158281 uc003dgz.4 AJ272267 NM_018397 CCDS2873 Q8NE62 MGI:1860776 RGD:735166 470092 1.1.99.1 HGNC:24288 "ENST00000315251.11|NM_018397.5" +HGNC:1925 CHEK1 checkpoint kinase 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 CHK1 "CHK1 (checkpoint, S.pombe) homolog|CHK1 checkpoint homolog (S. pombe)" 1998-04-21 2011-11-11 2021-05-26 1111 ENSG00000149554 OTTHUMG00000165853 uc001qcf.5 "AF016582|BC017575" NM_001274 "CCDS81645|CCDS8459|CCDS58191" O14757 "9278511|9382850" MGI:1202065 RGD:620545 603078 470094 objectId:1987 HGNC:1925 "ENST00000438015.7|NM_001114122.3" HGNC:1925 +HGNC:16627 CHEK2 checkpoint kinase 2 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "CDS1|CHK2|HuCds1|PP1425|bA444G7" RAD53 "CHK2 (checkpoint, S.pombe) homolog|CHK2 checkpoint homolog (S. pombe)" 2001-09-19 2001-09-27 2011-11-11 2021-05-26 11200 ENSG00000183765 OTTHUMG00000151023 uc003adu.2 AF086904 NM_001005735 "CCDS13843|CCDS13844|CCDS33629" O96017 "9836640|10097108" MGI:1355321 RGD:621543 LRG_302|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_302.xml CHEK2 604373 119394 objectId:1988 HGNC:16627 "ENST00000404276.6|NM_007194.4" HGNC:16627 +HGNC:37999 CHEK2P1 CHEK2 pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 CHEK2L1 "CHK2 checkpoint homolog (S. pombe)-like 1|checkpoint kinase 2 pseudogene 1" 2010-06-30 2011-11-11 2019-08-14 2019-08-14 100133012 ENSG00000275828 OTTHUMG00000188082 NG_029074 PGOHUM00000233949 HGNC:37999 +HGNC:43578 CHEK2P2 CHEK2 pseudogene 2 pseudogene pseudogene Approved 15q11.1 15q11.1 checkpoint kinase 2 pseudogene 2 2011-11-11 2021-07-05 2021-07-05 646096 ENSG00000259156 OTTHUMG00000171660 NR_038836 PGOHUM00000246957 HGNC:43578 +HGNC:43579 CHEK2P3 CHEK2 pseudogene 3 pseudogene pseudogene Approved 2p11.1 02p11.1 checkpoint kinase 2 pseudogene 3 2011-11-11 2021-07-05 2021-07-05 100873791 ENSG00000234898 OTTHUMG00000155087 NG_032562 PGOHUM00000240775 HGNC:43579 +HGNC:43580 CHEK2P4 CHEK2 pseudogene 4 pseudogene pseudogene Approved 22q11.1 22q11.1 checkpoint kinase 2 pseudogene 4 2011-11-11 2021-07-05 2021-07-05 106479021 ENSG00000235969 OTTHUMG00000140400 NG_044261 PGOHUM00000246381 HGNC:43580 +HGNC:43581 CHEK2P5 CHEK2 pseudogene 5 pseudogene pseudogene Approved 10p11.1 10p11.1 checkpoint kinase 2 pseudogene 5 2011-11-15 2021-07-05 2021-07-05 106479022 ENSG00000234541 OTTHUMG00000017999 NG_044270 PGOHUM00000238744 HGNC:43581 +HGNC:55703 CHEK2P6 CHEK2 pseudogene 6 pseudogene pseudogene Approved 16p11.2 16p11.2 2021-07-05 2021-07-05 101929031 ENSG00000261405 PGOHUM00000293547 +HGNC:55704 CHEK2P7 CHEK2 pseudogene 7 pseudogene pseudogene Approved 16p11.2 16p11.2 2021-07-05 2021-07-05 121847986 ENSG00000260516 +HGNC:16930 CHERP calcium homeostasis endoplasmic reticulum protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "ERPROT213-21|DAN16" "G-patch domain containing|Spliceosomal A complex" "579|1504" 2002-01-25 2016-10-05 10523 ENSG00000085872 OTTHUMG00000169304 uc002nei.2 U94836 NM_006387 CCDS42518 Q8IWX8 "8896557|10794731" MGI:106417 RGD:1305279 618539 HGNC:16930 "ENST00000546361.7|NM_006387.6" +HGNC:20455 CHFR checkpoint with forkhead and ring finger domains protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "FLJ10796|RNF196" Ring finger proteins 58 2003-02-14 2016-08-24 2017-12-06 55743 ENSG00000072609 OTTHUMG00000167930 uc001ulf.3 AK001658 NM_001161344 "CCDS31937|CCDS53847|CCDS53848|CCDS53849" Q96EP1 "10935642|11807090" MGI:2444898 RGD:1306360 605209 HGNC:20455 "ENST00000450056.7|NM_001161346.2" +HGNC:55658 CHFR-DT CHFR divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Divergent transcripts 1990 2021-06-30 2021-06-30 101928530 ENSG00000236617 NR_110919 +HGNC:1929 CHGA chromogranin A protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "PHE5|PHES" "vasostatin|pancreastatin|parastatin|parathyroid secretory protein 1" "Granins|Neuropeptides" "925|1902" 2001-06-22 2015-03-16 2021-11-12 1113 ENSG00000100604 OTTHUMG00000171225 uc001ybc.6 NM_001275 "CCDS76718|CCDS9906" P10645 3403545 MGI:88394 RGD:2338 118910 ligandId:5165 HGNC:1929 "ENST00000216492.10|NM_001275.4" +HGNC:1930 CHGB chromogranin B protein-coding gene gene with protein product Approved 20p12.3 20p12.3 SgI secretogranin B SCG1 secretogranin 1 Granins 925 1990-07-06 2015-03-16 2015-03-16 1114 ENSG00000089199 OTTHUMG00000031821 uc002wmg.4 NM_001819 CCDS13092 P05060 3608978 MGI:88395 RGD:2339 118920 HGNC:1930 "ENST00000378961.9|NM_001819.3" +HGNC:1932 CHI3L1 chitinase 3 like 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "GP39|YKL40|YK-40" cartilage glycoprotein-39 chitinase 3-like 1 (cartilage glycoprotein-39) Chitinases 816 1994-12-20 2015-11-30 2018-08-01 1116 ENSG00000133048 OTTHUMG00000042122 uc001gzi.3 BC008568 NM_001276 CCDS1435 P36222 "8245017|9244440" MGI:1340899 RGD:620874 601525 objectId:2987 HGNC:1932 "ENST00000255409.8|NM_001276.4" HGNC:1932 +HGNC:1933 CHI3L2 chitinase 3 like 2 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "YKL-39|YKL39" chitinase 3-like 2 Chitinases 816 1994-12-20 2015-11-30 2016-10-05 1117 ENSG00000064886 OTTHUMG00000012174 uc057jho.1 U49835 NM_004000 "CCDS41367|CCDS30803|CCDS30802" Q15782 8702629 601526 HGNC:1933 "ENST00000369748.9|NM_004000.3" +HGNC:17432 CHIA chitinase acidic protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "AMCase|TSA1902|CHIT2" acidic mammalian chitinase chitinase, acidic Chitinases 816 2005-08-16 2019-01-21 2019-01-21 27159 ENSG00000134216 OTTHUMG00000011165 uc001eas.5 AF290004 NM_001040623 "CCDS58017|CCDS41368|CCDS832" Q9BZP6 11085997 MGI:1932052 RGD:1303058 606080 objectId:2982 HGNC:17432 "ENST00000369740.6|NM_201653.4" +HGNC:44462 CHIAP1 chitinase, acidic pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 2012-10-11 2016-10-05 100420342 ENSG00000236040 OTTHUMG00000034492 NG_027127 PGOHUM00000258091 HGNC:44462 +HGNC:44463 CHIAP2 chitinase, acidic pseudogene 2 pseudogene pseudogene Approved 1p13.2 01p13.2 2012-10-11 2012-10-11 149620 ENSG00000203878 OTTHUMG00000012173 NR_003928 PGOHUM00000258094 HGNC:44463 +HGNC:44464 CHIAP3 chitinase, acidic pseudogene 3 pseudogene pseudogene Approved 1p13.2 01p13.2 2012-10-11 2012-10-11 100996315 ENSG00000234020 OTTHUMG00000011169 PGOHUM00000258073 +HGNC:1934 CHIC1 cysteine rich hydrophobic domain 1 protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 BRX cysteine-rich hydrophobic domain 1 Armadillo like helical domain containing 1492 2000-05-02 2015-11-05 2015-11-05 53344 ENSG00000204116 OTTHUMG00000021835 uc004ebk.5 Y11897 NM_001039840 "CCDS35335|CCDS75993" Q5VXU3 "9321471|11257495" MGI:1344694 RGD:1589722 300922 HGNC:1934 "ENST00000373502.10|NM_001039840.4" +HGNC:1935 CHIC2 cysteine rich hydrophobic domain 2 protein-coding gene gene with protein product Approved 4q12 04q12 BTL cysteine-rich hydrophobic domain 2 2000-05-02 2015-11-05 2015-11-05 26511 ENSG00000109220 OTTHUMG00000102101 uc003haj.3 AF159423 NM_012110 CCDS3493 Q9UKJ5 10477709 MGI:1921527 RGD:1309278 604332 HGNC:1935 "ENST00000263921.8|NM_012110.4" HGNC:1935 +HGNC:28474 CHID1 chitinase domain containing 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "MGC3234|FLJ42707|SI-CLP" stabilin-1 interacting chitinase-like protein Chitinases 816 2005-10-27 2018-07-31 66005 ENSG00000177830 OTTHUMG00000133314 uc010qww.3 AK124697 NM_023947 "CCDS7722|CCDS44511|CCDS44510" Q9BWS9 MGI:1915288 RGD:1308955 615692 HGNC:28474 "ENST00000323578.13|NM_023947.4" +HGNC:1936 CHIT1 chitinase 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "CHIT|CHI3" chitotriosidase chitinase 1 (chitotriosidase) Chitinases 816 1996-06-05 2015-11-30 2015-11-30 1118 ENSG00000133063 OTTHUMG00000042126 uc001gzn.3 U29615 NM_003465 "CCDS1436|CCDS58057" Q13231 "9748235|9492324" MGI:1919134 RGD:1305646 600031 objectId:3187 HGNC:1936 "ENST00000367229.6|NM_003465.3" +HGNC:1937 CHKA choline kinase alpha protein-coding gene gene with protein product Approved 11q13.2 11q13.2 CKI CHK choline kinase 1994-01-15 2004-04-21 2004-04-19 2016-10-05 1119 ENSG00000110721 OTTHUMG00000167424 uc001onj.4 D10704 NM_001277 "CCDS8179|CCDS8178" P35790 "1618328|15003397" MGI:107760 RGD:61944 118491 2.7.1.32 HGNC:1937 "ENST00000265689.9|NM_001277.3" +HGNC:55504 CHKA-DT CHKA divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Divergent transcripts 1990 2021-03-17 2021-03-17 105369362 ENSG00000255236 XR_007062744 +HGNC:1938 CHKB choline kinase beta protein-coding gene gene with protein product Approved 22q13.33 22q13.33 CHETK CHKL choline kinase-like 1996-12-18 2004-04-19 2004-04-19 2021-05-26 1120 ENSG00000100288 OTTHUMG00000150275 uc003bmv.4 AB029886 NM_005198 CCDS14099 Q9Y259 "9224698|15003397" MGI:1328313 RGD:61826 LRG_855|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_855.xml 612395 280675 HGNC:1938 "ENST00000406938.3|NM_005198.5" HGNC:1938 +HGNC:41998 CHKB-CPT1B CHKB-CPT1B readthrough (NMD candidate) other readthrough Approved 22q13.33 22q13.33 2011-05-31 2013-05-09 2014-11-19 386593 ENSG00000254413 OTTHUMG00000166282 uc062fnj.1 NR_027928.2 HGNC:41998 +HGNC:40146 CHKB-DT CHKB divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.33 22q13.33 CHKB-AS1 CHKB antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-17 2018-03-22 2018-03-22 2018-03-22 100144603 ENSG00000205559 OTTHUMG00000150208 NR_110536 CHKB-AS1 HGNC:40146 +HGNC:1939 CHL1 cell adhesion molecule L1 like protein-coding gene gene with protein product Approved 3p26.3 03p26.3 "CALL|L1CAM2|FLJ44930|MGC132578" "neural cell adhesion molecule|close homolog of L1" "cell adhesion molecule with homology to L1CAM (close homologue of L1)|cell adhesion molecule with homology to L1CAM (close homolog of L1)|cell adhesion molecule L1-like" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1998-10-14 2016-01-26 2016-10-05 10752 ENSG00000134121 OTTHUMG00000090601 uc003bot.4 AF002246 NM_006614 "CCDS2556|CCDS58812|CCDS74887" O00533 9799093 MGI:1098266 RGD:620122 607416 166396 HGNC:1939 "ENST00000256509.7|NM_006614.4" +HGNC:40148 CHL1-AS1 CHL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p26.3 03p26.3 CHL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 101927193 ENSG00000234661 OTTHUMG00000154873 uc003box.2 NR_110739 CHL1-AS1 HGNC:40148 +HGNC:40147 CHL1-AS2 CHL1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p26.3 03p26.3 CHL1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2020-04-20 101927174 ENSG00000224318 OTTHUMG00000154872 uc062gam.1 NR_144486 CHL1-AS2 HGNC:40147 +HGNC:1940 CHM CHM Rab escort protein protein-coding gene gene with protein product Approved Xq21.2 Xq21.2 REP-1 Rab escort protein 1 "TCD|DXS540" "choroideremia (Rab escort protein 1)|CHM, Rab escort protein 1" MicroRNA protein coding host genes 1691 2001-06-22 2019-01-31 2021-04-13 1121 ENSG00000188419 OTTHUMG00000021937 uc004eet.3 X78121 NM_000390 "CCDS48139|CCDS14454" P24386 1373238 MGI:892979 RGD:2340 "Mutations of the Rab Escort Protein 1|http://www.retina-international.org/files/sci-news/repmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CHM|LRG_699|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_699.xml" 300390 119402 HGNC:1940 "ENST00000357749.7|NM_000390.4" HGNC:1940 +HGNC:1941 CHML CHM like Rab escort protein protein-coding gene gene with protein product Approved 1q43 01q43 REP-2 Rab escort protein 2 "choroideremia-like (Rab escort protein 2)|CHM like Rab escort protein 2" 1992-11-03 2019-01-31 2019-01-31 1122 ENSG00000203668 OTTHUMG00000039690 uc001hzd.4 X64728 NM_001821 CCDS31073 P26374 7981670 MGI:101913 RGD:1596201 118825 HGNC:1941 "ENST00000366553.3|NM_001381853.1" +HGNC:8740 CHMP1A charged multivesicular body protein 1A protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "KIAA0047|CHMP1|Vps46A" "PRSM1|PCOLN3" "procollagen (type III) N-endopeptidase|chromatin modifying protein 1A" "Charged multivesicular body proteins|ESCRT-III associated factors" "482|1119" 1993-05-03 2007-03-20 2011-09-21 2021-05-26 5119 ENSG00000131165 OTTHUMG00000169521 uc002fnu.5 U58048 NM_002768 CCDS45552 Q9HD42 "11559748|11559747" MGI:1920159 RGD:1311083 164010 327388 HGNC:8740 "ENST00000397901.8|NM_002768.5" HGNC:8740 +HGNC:39514 CHMP1AP1 charged multivesicular body protein 1A pseudogene 1 pseudogene pseudogene Approved 1p35.3 01p35.3 chromatin modifying protein 1A pseudogene 1 2011-02-07 2011-09-21 2011-09-21 646597 ENSG00000226662 OTTHUMG00000003514 NG_007362 PGOHUM00000243947 HGNC:39514 +HGNC:24287 CHMP1B charged multivesicular body protein 1B protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "CHMP1.5|C18orf2|Vps46B" chromatin modifying protein 1B "Charged multivesicular body proteins|ESCRT-III associated factors" "482|1119" 2005-04-04 2011-09-21 2014-11-18 57132 ENSG00000255112 OTTHUMG00000165820 uc002kqe.4 AF306520 NM_020412 CCDS54180 Q7LBR1 15537668 MGI:1914314 RGD:1593500 606486 HGNC:24287 "ENST00000526991.3|NM_020412.5" +HGNC:52778 CHMP1B-AS1 CHMP1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 Antisense RNAs 1987 2016-12-09 2016-12-09 109729129 ENSG00000267165 OTTHUMG00000180621 27801428 +HGNC:49380 CHMP1B2P charged multivesicular body protein 1B2, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-10-22 2019-12-17 101060146 ENSG00000278530 OTTHUMG00000021903 NR_110646 MGI:1914278 PGOHUM00000258429 HGNC:49380 +HGNC:30216 CHMP2A charged multivesicular body protein 2A protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "BC-2|CHMP2|VPS2|VPS2A" "putative breast adenocarcinoma marker (32kD)|VPS2 homolog A (S. cerevisiae)" chromatin modifying protein 2A "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2005-04-04 2011-09-21 2014-11-19 27243 ENSG00000130724 OTTHUMG00000183547 uc002qtk.4 AF042384 NM_014453 CCDS12986 O43633 "15173323|11559748" MGI:1916203 RGD:1305050 610893 HGNC:30216 "ENST00000312547.7|NM_014453.4" +HGNC:24537 CHMP2B charged multivesicular body protein 2B protein-coding gene gene with protein product Approved 3p11.2 03p11.2 "DKFZP564O123|CHMP2.5|VPS2B" VPS2 homolog B (S. cerevisiae) chromatin modifying protein 2B "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2005-04-04 2011-09-21 2021-05-26 25978 ENSG00000083937 OTTHUMG00000158982 uc003dqp.5 BC001553 NM_014043 "CCDS58840|CCDS2918" Q9UQN3 11559748 MGI:1916192 RGD:1306781 609512 119407 HGNC:24537 "ENST00000263780.9|NM_014043.4" HGNC:24537 +HGNC:29865 CHMP3 charged multivesicular body protein 3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "NEDF|CGI-149" VPS24 "vacuolar protein sorting 24 (yeast)|vacuolar protein sorting 24 homolog (S. cerevisiae)" "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2004-03-11 2011-09-21 2011-09-21 2014-11-19 51652 ENSG00000115561 OTTHUMG00000153189 uc002srj.4 AF219226 NM_016079 "CCDS54375|CCDS33236|CCDS42707" Q9Y3E7 "11549700|12878588" MGI:1913950 RGD:708556 610052 HGNC:29865 "ENST00000263856.9|NM_016079.4" +HGNC:55795 CHMP3-AS1 CHMP3 and RNF103 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Antisense RNAs 1987 2021-07-29 2021-07-29 105374845 ENSG00000228363 XR_940320 +HGNC:20274 CHMP4A charged multivesicular body protein 4A protein-coding gene gene with protein product Approved 14q12 14q12 "HSPC134|VPS32A" C14orf123 "chromosome 14 open reading frame 123|chromatin modifying protein 4A" "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2003-01-17 2005-04-04 2011-09-21 2014-11-19 29082 ENSG00000254505 OTTHUMG00000167036 uc059abq.1 AF212243 NM_014169 CCDS9619 Q9BY43 610051 HGNC:20274 "ENST00000347519.12|NM_014169.5" +HGNC:54739 CHMP4AP1 CHMP4A pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2019-12-19 2020-01-21 100130209 ENSG00000231722 NG_021509 +HGNC:16171 CHMP4B charged multivesicular body protein 4B protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "dJ553F4.4|Shax1|SNF7-2|VPS32B" C20orf178 "chromosome 20 open reading frame 178|chromatin modifying protein 4B" "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2001-07-17 2005-04-04 2011-09-21 2021-05-26 128866 ENSG00000101421 OTTHUMG00000032272 uc002xaa.4 AL050349 NM_176812 CCDS13228 Q9H444 14678797 MGI:1922858 RGD:1309846 610897 139158 HGNC:16171 "ENST00000217402.3|NM_176812.5" HGNC:16171 +HGNC:43616 CHMP4BP1 charged multivesicular body protein 4B pseudogene 1 pseudogene pseudogene Approved 14q22.3 14q22.3 2011-12-01 2011-12-01 100307126 ENSG00000258469 OTTHUMG00000171034 NG_013059 P59074 PGOHUM00000248177 HGNC:43616 +HGNC:30599 CHMP4C charged multivesicular body protein 4C protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "MGC22825|Shax3|VPS32C" Snf7 homologue associated with Alix 3 chromatin modifying protein 4C "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2005-04-04 2011-09-21 2015-09-11 92421 ENSG00000164695 OTTHUMG00000164726 uc003ycl.4 AK000049 NM_152284 CCDS6233 Q96CF2 "12860994|14678797" MGI:1913621 RGD:1564543 610899 HGNC:30599 "ENST00000297265.5|NM_152284.4" +HGNC:26942 CHMP5 charged multivesicular body protein 5 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "HSPC177|CGI-34|Vps60" "C9orf83|SNF7DC2" "chromosome 9 open reading frame 83|chromatin modifying protein 5" "Charged multivesicular body proteins|ESCRT-III associated factors" "482|1119" 2005-04-04 2005-08-09 2011-09-21 2014-11-19 51510 ENSG00000086065 OTTHUMG00000019765 uc003zsm.5 AF132968 NM_016410 "CCDS56569|CCDS6537" Q9NZZ3 "15644320|11559748" MGI:1924209 RGD:1305968 610900 HGNC:26942 "ENST00000223500.9|NM_016410.6" +HGNC:54950 CHMP5P1 CHMP5 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-05-01 2020-05-01 100420317 ENSG00000215284 NG_026686 +HGNC:25675 CHMP6 charged multivesicular body protein 6 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ11749|VPS20" chromatin modifying protein 6 "Charged multivesicular body proteins|ESCRT-III" "482|1118" 2005-04-04 2011-09-21 2014-11-18 79643 ENSG00000176108 OTTHUMG00000177645 uc002jyw.4 BC010108 NM_024591 CCDS11774 Q96FZ7 "11559748|15511219" MGI:3583942 RGD:1565325 610901 HGNC:25675 "ENST00000325167.9|NM_024591.5" +HGNC:28439 CHMP7 charged multivesicular body protein 7 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 MGC29816 CHMP family, member 7 "Charged multivesicular body proteins|ESCRT-III associated factors" "482|1119" 2005-04-04 2011-09-21 2016-10-05 91782 ENSG00000147457 OTTHUMG00000131785 uc003xdc.3 BC019110 NM_152272 CCDS6040 Q8WUX9 16856878 MGI:1913922 RGD:1308779 611130 HGNC:28439 "ENST00000397677.6|NM_152272.5" +HGNC:1943 CHN1 chimerin 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "RhoGAP2|ARHGAP2|n-chimerin" "Chimerin 1 (GTPase-activating protein, rho, 2)|chimaerin 1" "CHN|DURS2" "Duane retraction syndrome 2|chimerin (chimaerin) 1" "Rho GTPase activating proteins|SH2 domain containing" "721|741" 1991-07-12 2012-10-17 2021-05-26 1123 ENSG00000128656 OTTHUMG00000154225 uc002uji.4 NM_001822 "CCDS46454|CCDS56147|CCDS46455" P15882 "2299665|15013773|18653847" MGI:1915674 RGD:620139 118423 182553 HGNC:1943 "ENST00000409900.9|NM_001822.7" HGNC:1943 +HGNC:1944 CHN2 chimerin 2 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "ARHGAP3|RhoGAP3" "beta chimerin|chimaerin 2" chimerin (chimaerin) 2 "Rho GTPase activating proteins|SH2 domain containing" "721|741" 1997-08-28 2012-10-17 2016-10-05 1124 ENSG00000106069 OTTHUMG00000023063 uc003szz.4 L29126 NM_004067 "CCDS78217|CCDS78220|CCDS5420|CCDS78218|CCDS78219|CCDS47566" P52757 8175705 MGI:1917243 RGD:620140 602857 HGNC:1944 "ENST00000222792.11|NM_004067.4" +HGNC:40149 CHN2-AS1 CHN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 Antisense RNAs 1987 2019-07-24 2019-07-24 102724484 ENSG00000235669 OTTHUMG00000152748 NR_120522 HGNC:40149 +HGNC:17807 CHODL chondrolectin protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "FLJ12627|PRED12|MT75" C21orf68 chromosome 21 open reading frame 68 C-type lectin domain containing 1298 2001-12-14 2002-07-04 2016-10-05 140578 ENSG00000154645 OTTHUMG00000074519 uc002ykv.5 AF257472 NM_024944 "CCDS56210|CCDS56209|CCDS56208|CCDS13570" Q9H9P2 12079284 MGI:2179069 RGD:1309885 607247 HGNC:17807 "ENST00000299295.7|NM_024944.3" +HGNC:1279 CHODL-AS1 CHODL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 "C21orf39|NCRNA00157" "chromosome 21 open reading frame 39|non-protein coding RNA 157|CHODL antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2000-05-23 2011-08-11 2012-08-15 2012-10-12 54075 ENSG00000231755 OTTHUMG00000074500 uc011aca.2 NR_024354 CHODL-AS1 HGNC:1279 +HGNC:14525 CHORDC1 cysteine and histidine rich domain containing 1 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "CHP1|CHP-1" morgana cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1 2001-02-28 2015-11-05 2015-11-18 26973 ENSG00000110172 OTTHUMG00000167305 uc001pdg.4 AF192466 NM_012124 "CCDS8289|CCDS44705" Q9UHD1 10571178 MGI:1914167 RGD:1304679 604353 HGNC:14525 "ENST00000320585.11|NM_012124.3" +HGNC:54687 CHORDC1P1 CHORDC1 pseudogene 1 pseudogene pseudogene Approved 2p21 02p21 2019-11-28 2020-01-21 100128048 ENSG00000232202 NG_009413 +HGNC:54689 CHORDC1P3 CHORDC1 pseudogene 3 pseudogene pseudogene Approved 4q32.3 04q32.3 2019-11-28 2020-01-21 100133261 ENSG00000248162 NG_009412 +HGNC:54688 CHORDC1P4 CHORDC1 pseudogene 4 pseudogene pseudogene Approved 18p11.31 18p11.31 2019-11-28 2019-11-28 2019-11-28 2020-01-21 727896 ENSG00000263606 NR_026659 +HGNC:54690 CHORDC1P5 CHORDC1 pseudogene 5 pseudogene pseudogene Approved 1p31.1 01p31.1 2019-11-28 2020-01-21 391048 ENSG00000233020 NG_009414 +HGNC:20050 CHORDC2P cysteine and histidine rich domain containing 2, pseudogene pseudogene pseudogene Approved 14q32.11 14q32.11 "cysteine and histidine-rich domain (CHORD)-containing 2 pseudogene|cysteine and histidine-rich domain (CHORD) containing 2 pseudogene" 2003-01-13 2015-11-05 2015-11-05 317775 ENSG00000259050 OTTHUMG00000170976 NG_002473 PGOHUM00000247882 HGNC:20050 +HGNC:17433 CHP1 calcineurin like EF-hand protein 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "Sid470p|CHP|SLC9A1BP|p22|p24" calcineurin homologous protein EF-hand domain containing 863 2012-05-16 2016-01-29 2016-10-05 11261 ENSG00000187446 OTTHUMG00000130233 uc001znl.4 NM_007236 CCDS10073 Q99653 "15987692|20720019" MGI:1927185 RGD:620447 606988 HGNC:17433 "ENST00000334660.10|NM_007236.5" +HGNC:54895 CHP1P1 CHP1 pseudogene 1 pseudogene pseudogene Approved 5q13.2 05q13.2 2020-04-17 2020-04-17 728549 ENSG00000248930 NG_011693 +HGNC:54896 CHP1P2 CHP1 pseudogene 2 pseudogene pseudogene Approved 6q25.3 06q25.3 2020-04-17 2020-04-17 729603 ENSG00000213073 NR_003288 +HGNC:54897 CHP1P3 CHP1 pseudogene 3 pseudogene pseudogene Approved Xp22.13 Xp22.13 2020-04-17 2020-04-17 117369447 ENSG00000226153 NG_011553 +HGNC:24927 CHP2 calcineurin like EF-hand protein 2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 EF-hand domain containing 863 2012-05-16 2016-01-29 2016-01-29 63928 ENSG00000166869 OTTHUMG00000131611 uc002dmb.2 NM_022097 CCDS10617 O43745 12226101 MGI:1917511 RGD:727796 HGNC:24927 "ENST00000300113.3|NM_022097.4" +HGNC:24291 CHPF chondroitin polymerizing factor protein-coding gene gene with protein product Approved 2q35 02q35 "CSS2|CHSY2" chondroitin sulfate synthase 2 "Beta 4-glycosyltransferases|Beta 3-glycosyltransferases" "425|426" 2008-01-29 2015-09-11 79586 ENSG00000123989 OTTHUMG00000058929 uc002vmc.5 BC008878 NM_024536 "CCDS56169|CCDS2443" Q8IZ52 "11230166|12716890" MGI:106576 RGD:1359458 610405 "2.4.1.175|2.4.1.226" HGNC:24291 "ENST00000243776.11|NM_024536.6" +HGNC:29270 CHPF2 chondroitin polymerizing factor 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "KIAA1402|ChSy-3|CSGlcA-T" chondroitin sulfate glucuronyltransferase "Beta 4-glycosyltransferases|Beta 3-glycosyltransferases|MicroRNA protein coding host genes" "425|426|1691" 2009-07-15 2018-02-20 54480 ENSG00000033100 OTTHUMG00000157380 uc003wjr.3 AB037823 NM_019015 "CCDS64803|CCDS34779" Q9P2E5 "10718198|12145278|18316376" MGI:1917522 RGD:1306404 608037 2.4.1.226 HGNC:29270 "ENST00000035307.7|NM_019015.3" +HGNC:17852 CHPT1 choline phosphotransferase 1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 CPT1 phosphatidylcholine synthesizing enzyme 2002-01-21 2016-01-15 56994 ENSG00000111666 OTTHUMG00000170443 uc001tin.4 NM_020244 CCDS9086 Q8WUD6 10893425 MGI:2384841 RGD:1359283 616747 2.7.8.2 HGNC:17852 "ENST00000229266.8|NM_020244.3" +HGNC:13544 CHRAC1 chromatin accessibility complex subunit 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "CHRAC15|YCL1" histone-fold protein CHRAC15 Chromatin accessibility complex 1633 2000-11-09 2018-07-11 2018-07-11 54108 ENSG00000104472 OTTHUMG00000164207 uc003yvl.4 AF226076 NM_017444 CCDS6379 Q9NRG0 "10880450|11000277" MGI:2135796 RGD:1309321 607268 HGNC:13544 "ENST00000220913.10|NM_017444.6" +HGNC:1949 CHRD chordin protein-coding gene gene with protein product Approved 3q27.1 03q27.1 Chordin family 1661 1998-11-06 2016-10-05 8646 ENSG00000090539 OTTHUMG00000141267 uc003fov.3 AF076612 NM_003741 "CCDS77868|CCDS3266" Q9H2X0 "9782094|11472837" MGI:1313268 RGD:620181 603475 HGNC:1949 +HGNC:29861 CHRDL1 chordin like 1 protein-coding gene gene with protein product Approved Xq23 Xq23 "NRLN1|CHL" MGC1 megalocornea 1 (X-linked) Chordin family 1661 2004-01-28 2016-06-21 2021-05-26 91851 ENSG00000101938 OTTHUMG00000022199 uc065arx.1 AL049176 NM_145234 "CCDS14553|CCDS48150|CCDS48149|CCDS48148" Q9BU40 "11441185|11118896|22284829" MGI:1933172 RGD:735215 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CHRDL1 300350 292376 HGNC:29861 "ENST00000372042.6|NM_001143981.2" HGNC:29861 +HGNC:24168 CHRDL2 chordin like 2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 BNF1 "Chordin family|MicroRNA protein coding host genes" "1661|1691" 2004-01-28 2016-06-21 2016-06-21 25884 ENSG00000054938 OTTHUMG00000165623 uc001ovh.5 AL110168 NM_001278473 "CCDS60893|CCDS8234" Q6WN34 "12853144|12975309" MGI:1916371 RGD:1306179 613127 HGNC:24168 "ENST00000376332.8|NM_001278473.3" +HGNC:15781 CHRFAM7A CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion protein-coding gene gene with protein product Approved 15q13.2 15q13.2 "D-10|CHRNA7-DR1" CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion 2001-06-29 2016-03-03 2016-03-03 89832 ENSG00000166664 OTTHUMG00000175645 uc001zdt.2 AF029838 NM_148911 "CCDS32184|CCDS42008" Q494W8 11829490 MGI:99779 609756 HGNC:15781 "ENST00000299847.7|NM_139320.2" +HGNC:37766 CHRFAM7AP1 CHRFAM7A pseudogene 1 pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-02-16 2016-10-05 359999 NG_004755 12815422 HGNC:37766 +HGNC:23937 CHRFAM7AP2 CHRFAM7A pseudogene 2 pseudogene pseudogene Approved Yq11.2 Yq11.2 2010-02-16 2014-11-19 359998 NG_002919 12815422 HGNC:23937 +HGNC:1950 CHRM1 cholinergic receptor muscarinic 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 acetylcholine receptor, muscarinic 1 Cholinergic receptors muscarinic 180 1988-08-03 2016-03-03 2016-03-03 1128 ENSG00000168539 OTTHUMG00000167765 uc001nwi.4 Y00508 NM_000738 CCDS8040 P11229 MGI:88396 RGD:2342 118510 objectId:13 HGNC:1950 "ENST00000306960.4|NM_000738.3" +HGNC:1951 CHRM2 cholinergic receptor muscarinic 2 protein-coding gene gene with protein product Approved 7q33 07q33 acetylcholine receptor, muscarinic 2 "Cholinergic receptors muscarinic|MicroRNA protein coding host genes" "180|1691" 1988-08-04 2016-03-03 2021-05-26 1129 ENSG00000181072 OTTHUMG00000155658 uc003vtg.2 NM_000739 CCDS5843 P08172 MGI:88397 RGD:620023 LRG_405|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_405.xml 118493 470096 objectId:14 HGNC:1951 "ENST00000680005.1|NM_001006630.2" +HGNC:1952 CHRM3 cholinergic receptor muscarinic 3 protein-coding gene gene with protein product Approved 1q43 01q43 acetylcholine receptor, muscarinic 3 Cholinergic receptors muscarinic 180 1988-08-04 2016-03-03 2021-05-26 1131 ENSG00000133019 OTTHUMG00000039649 uc001hyp.4 U29589 NM_000740 CCDS1616 P20309 MGI:88398 RGD:2343 118494 299148 objectId:15 HGNC:1952 "ENST00000676153.1|NM_001375978.1" HGNC:1952 +HGNC:40150 CHRM3-AS1 CHRM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q43 01q43 CHRM3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-09 2012-08-15 2014-11-19 100873984 ENSG00000234601 OTTHUMG00000039650 uc031vtb.2 "BX116264|AI672277" NR_046582 CHRM3-AS1 HGNC:40150 +HGNC:43725 CHRM3-AS2 CHRM3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q43 01q43 CHRM3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-02-09 2012-08-15 2012-10-12 100506915 ENSG00000233355 OTTHUMG00000039648 uc057qrj.1 "AL832284|BI836697" NR_103776 CHRM3-AS2 HGNC:43725 +HGNC:1953 CHRM4 cholinergic receptor muscarinic 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 acetylcholine receptor, muscarinic 4 Cholinergic receptors muscarinic 180 1989-04-21 2016-03-03 2016-10-05 1132 ENSG00000180720 OTTHUMG00000154371 uc001nct.2 M16405 NM_000741 CCDS44581 P08173 1577490 MGI:88399 RGD:2344 118495 objectId:16 HGNC:1953 "ENST00000682254.1|NM_000741.5" +HGNC:1954 CHRM5 cholinergic receptor muscarinic 5 protein-coding gene gene with protein product Approved 15q14 15q14 acetylcholine receptor, muscarinic 5 Cholinergic receptors muscarinic 180 1989-04-21 2016-03-03 2016-10-05 1133 ENSG00000184984 OTTHUMG00000129369 uc001zhk.2 NM_001320917 CCDS10031 P08912 MGI:109248 RGD:620027 118496 objectId:17 HGNC:1954 "ENST00000383263.7|NM_012125.4" +HGNC:1955 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit protein-coding gene gene with protein product Approved 2q31.1 02q31.1 acetylcholine receptor, nicotinic, alpha 1 (muscle) CHRNA "cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)|cholinergic receptor, nicotinic, alpha 1 (muscle)|cholinergic receptor, nicotinic alpha 1" Cholinergic receptors nicotinic subunits 173 1989-05-25 2016-02-04 2021-05-26 1134 ENSG00000138435 OTTHUMG00000132357 uc002uje.3 Y00762 NM_000079 "CCDS33331|CCDS2261" P02708 MGI:87885 RGD:69277 100690 119411 objectId:462 HGNC:1955 "ENST00000348749.9|NM_000079.4" HGNC:1955 +HGNC:1956 CHRNA2 cholinergic receptor nicotinic alpha 2 subunit protein-coding gene gene with protein product Approved 8p21.2 08p21.2 acetylcholine receptor, nicotinic, alpha 2 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)|cholinergic receptor, nicotinic, alpha 2 (neuronal)|cholinergic receptor, nicotinic alpha 2" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2021-05-26 1135 ENSG00000120903 OTTHUMG00000102083 uc010lur.5 U62431 NM_000742 "CCDS64856|CCDS6059" Q15822 1505988 MGI:87886 RGD:621533 118502 159345 objectId:463 HGNC:1956 "ENST00000407991.3|NM_000742.4" HGNC:1956 +HGNC:1957 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit protein-coding gene gene with protein product Approved 15q25.1 15q25.1 acetylcholine receptor, nicotinic, alpha 3 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 3|cholinergic receptor, nicotinic, alpha 3 (neuronal)|cholinergic receptor, nicotinic alpha 3" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2021-05-26 1136 ENSG00000080644 OTTHUMG00000143863 uc002bec.4 NM_000743 "CCDS10305|CCDS53964" P32297 2004777 MGI:87887 RGD:2345 118503 objectId:464 HGNC:1957 "ENST00000326828.6|NM_000743.5" +HGNC:1958 CHRNA4 cholinergic receptor nicotinic alpha 4 subunit protein-coding gene gene with protein product Approved 20q13.33 20q13.33 BFNC acetylcholine receptor, nicotinic, alpha 4 (neuronal) "EBN|EBN1" "cholinergic receptor, nicotinic, alpha polypeptide 4|cholinergic receptor, nicotinic, alpha 4 (neuronal)|cholinergic receptor, nicotinic alpha 4" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2021-05-26 1137 ENSG00000101204 OTTHUMG00000033080 uc002yes.4 NM_000744 CCDS13517 P43681 1505988 MGI:87888 RGD:2346 118504 119414 objectId:465 HGNC:1958 "ENST00000370263.9|NM_000744.7" HGNC:1958 +HGNC:1959 CHRNA5 cholinergic receptor nicotinic alpha 5 subunit protein-coding gene gene with protein product Approved 15q25.1 15q25.1 acetylcholine receptor, nicotinic, alpha 5 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 5|cholinergic receptor, nicotinic, alpha 5 (neuronal)|cholinergic receptor, nicotinic alpha 5" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2016-10-05 1138 ENSG00000169684 OTTHUMG00000143858 uc002bdy.3 NM_000745 "CCDS10304|CCDS76786" P30532 2004777 MGI:87889 RGD:2347 118505 objectId:466 HGNC:1959 +HGNC:15963 CHRNA6 cholinergic receptor nicotinic alpha 6 subunit protein-coding gene gene with protein product Approved 8p11.21 08p11.21 acetylcholine receptor, nicotinic, alpha 6 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 6|cholinergic receptor, nicotinic, alpha 6 (neuronal)|cholinergic receptor, nicotinic alpha 6" Cholinergic receptors nicotinic subunits 173 2001-06-25 2016-02-04 2016-10-05 8973 ENSG00000147434 OTTHUMG00000165275 uc003xpj.5 U62435 NM_001199279 "CCDS56536|CCDS6135" Q15825 8906617 MGI:106213 RGD:69281 606888 objectId:467 HGNC:15963 "ENST00000276410.7|NM_004198.3" +HGNC:1960 CHRNA7 cholinergic receptor nicotinic alpha 7 subunit protein-coding gene gene with protein product Approved 15q13.3 15q13.3 acetylcholine receptor, nicotinic, alpha 7 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 7|cholinergic receptor, nicotinic, alpha 7 (neuronal)|cholinergic receptor, nicotinic alpha 7" Cholinergic receptors nicotinic subunits 173 1993-05-25 2016-02-04 2021-05-26 1139 ENSG00000175344 OTTHUMG00000129285 uc001zft.5 Z23141 NM_000746 "CCDS10027|CCDS53924" P36544 8188270 MGI:99779 RGD:2348 118511 264663 objectId:468 HGNC:1960 "ENST00000306901.9|NM_000746.6" HGNC:1960 +HGNC:14079 CHRNA9 cholinergic receptor nicotinic alpha 9 subunit protein-coding gene gene with protein product Approved 4p14 04p14 NACHRA9 acetylcholine receptor, nicotinic, alpha 9 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 9|cholinergic receptor, nicotinic, alpha 9 (neuronal)|cholinergic receptor, nicotinic alpha 9" Cholinergic receptors nicotinic subunits 173 2000-11-29 2016-02-04 2016-02-04 55584 ENSG00000174343 OTTHUMG00000099375 uc003gva.2 AF227732 NM_017581 CCDS3459 Q9UGM1 MGI:1202403 RGD:621534 605116 objectId:469 HGNC:14079 "ENST00000310169.3|NM_017581.4" +HGNC:13800 CHRNA10 cholinergic receptor nicotinic alpha 10 subunit protein-coding gene gene with protein product Approved 11p15.4 11p15.4 acetylcholine receptor, nicotinic, alpha 10 (neuronal) "cholinergic receptor, nicotinic, alpha polypeptide 10|cholinergic receptor, nicotinic, alpha 10 (neuronal)|cholinergic receptor, nicotinic alpha 10" Cholinergic receptors nicotinic subunits 173 2000-11-28 2016-02-04 2016-10-05 57053 ENSG00000129749 OTTHUMG00000011844 uc001lyf.3 AF199235 NM_001303034 CCDS7745 Q9GZZ6 MGI:3609260 RGD:620142 606372 objectId:470 HGNC:13800 "ENST00000250699.2|NM_020402.4" +HGNC:1961 CHRNB1 cholinergic receptor nicotinic beta 1 subunit protein-coding gene gene with protein product Approved 17p13.1 17p13.1 acetylcholine receptor, nicotinic, beta 1 (muscle) CHRNB "cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)|cholinergic receptor, nicotinic, beta 1 (muscle)|cholinergic receptor, nicotinic beta 1" Cholinergic receptors nicotinic subunits 173 1989-05-25 2016-02-04 2021-05-26 1140 ENSG00000170175 OTTHUMG00000108139 uc002ghb.4 X14830 NM_000747 CCDS11106 P11230 MGI:87890 RGD:2349 100710 119419 objectId:471 HGNC:1961 "ENST00000306071.7|NM_000747.3" HGNC:1961 +HGNC:1962 CHRNB2 cholinergic receptor nicotinic beta 2 subunit protein-coding gene gene with protein product Approved 1q21.3 01q21.3 acetylcholine receptor, nicotinic, beta 2 (neuronal) "cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)|cholinergic receptor, nicotinic, beta 2 (neuronal)|cholinergic receptor, nicotinic beta 2" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2021-05-26 1141 ENSG00000160716 OTTHUMG00000037262 uc001ffg.4 U62437 NM_000748 CCDS1070 P17787 1505988 MGI:87891 RGD:2350 118507 165966 objectId:472 HGNC:1962 "ENST00000368476.4|NM_000748.3" HGNC:1962 +HGNC:1963 CHRNB3 cholinergic receptor nicotinic beta 3 subunit protein-coding gene gene with protein product Approved 8p11.21 08p11.21 acetylcholine receptor, nicotinic, beta 3 (neuronal) "cholinergic receptor, nicotinic, beta polypeptide 3|cholinergic receptor, nicotinic, beta 3 (neuronal)|cholinergic receptor, nicotinic beta 3" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2016-02-04 1142 ENSG00000147432 OTTHUMG00000165262 uc003xpi.2 U62438 NM_000749 CCDS6134 Q05901 1505988 MGI:106212 RGD:621544 118508 objectId:473 HGNC:1963 "ENST00000289957.3|NM_000749.5" +HGNC:1964 CHRNB4 cholinergic receptor nicotinic beta 4 subunit protein-coding gene gene with protein product Approved 15q25.1 15q25.1 acetylcholine receptor, nicotinic, beta 4 (neuronal) "cholinergic receptor, nicotinic, beta polypeptide 4|cholinergic receptor, nicotinic, beta 4 (neuronal)|cholinergic receptor, nicotinic beta 4" Cholinergic receptors nicotinic subunits 173 1990-05-11 2016-02-04 2021-11-11 1143 ENSG00000117971 OTTHUMG00000143860 uc002bed.2 U48861 NM_000750 "CCDS10306|CCDS58392" P30926 2004777 MGI:87892 RGD:2351 118509 objectId:474 HGNC:1964 "ENST00000261751.8|NM_000750.5" HGNC:1964 +HGNC:1965 CHRND cholinergic receptor nicotinic delta subunit protein-coding gene gene with protein product Approved 2q37.1 02q37.1 acetylcholine receptor, nicotinic, delta (muscle) ACHRD "cholinergic receptor, nicotinic, delta|cholinergic receptor, nicotinic, delta (muscle)|cholinergic receptor, nicotinic delta" Cholinergic receptors nicotinic subunits 173 1986-01-01 2016-02-04 2021-05-26 1144 ENSG00000135902 OTTHUMG00000133261 uc002vsw.5 X55019 NM_000751 "CCDS58754|CCDS2494" Q07001 MGI:87893 RGD:2352 100720 119422 objectId:476 HGNC:1965 "ENST00000258385.8|NM_000751.3" HGNC:1965 +HGNC:1966 CHRNE cholinergic receptor nicotinic epsilon subunit protein-coding gene gene with protein product Approved 17p13.2 17p13.2 ACHRE acetylcholine receptor, nicotinic, epsilon (muscle) "cholinergic receptor, nicotinic, epsilon|cholinergic receptor, nicotinic, epsilon (muscle)|cholinergic receptor, nicotinic epsilon" Cholinergic receptors nicotinic subunits 173 1992-04-23 2016-02-04 2021-10-13 1145 ENSG00000108556 OTTHUMG00000090778 uc002fzk.2 X66403 NM_000080 CCDS11058 Q04844 7688301 MGI:87894 RGD:2353 LRG_1254|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1254.xml 100725 119425 objectId:477 HGNC:1966 "ENST00000649488.2|NM_000080.4" HGNC:1966 +HGNC:1967 CHRNG cholinergic receptor nicotinic gamma subunit protein-coding gene gene with protein product Approved 2q37.1 02q37.1 acetylcholine receptor, nicotinic, gamma (muscle) ACHRG "cholinergic receptor, nicotinic, gamma|cholinergic receptor, nicotinic, gamma (muscle)|cholinergic receptor, nicotinic gamma" Cholinergic receptors nicotinic subunits 173 2001-06-22 2016-02-04 2021-05-26 1146 ENSG00000196811 OTTHUMG00000153327 uc002vsx.1 X01715 NM_005199 CCDS33400 P07510 MGI:87895 RGD:2354 "LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=CHRNG|LRG_1275|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1275.xml" 100730 119428 objectId:475 HGNC:1967 "ENST00000651502.1|NM_005199.5" HGNC:1967 +HGNC:54059 CHROMR cholesterol induced regulator of metabolism RNA non-coding RNA RNA, long non-coding Approved 2q31.2 02q31.2 CHROME cholesterol homeostasis regulator of miRNA expression PRKRA-AS1 PRKRA antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2018-09-27 2019-06-05 2019-06-05 2019-08-16 101927027 ENSG00000223960 NR_110204 31410392 HGNC:54059 +HGNC:1969 CHST1 carbohydrate sulfotransferase 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "C6ST|KSGal6ST" Keratan sulfotransferase carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 Sulfotransferases, membrane bound 763 1998-10-02 2016-02-24 2016-02-24 8534 ENSG00000175264 OTTHUMG00000166513 uc001mys.3 U65637 NM_003654 CCDS7913 O43916 "9405439|9639683" MGI:1924219 RGD:1308142 603797 2.8.2.21 HGNC:1969 "ENST00000308064.7|NM_003654.6" +HGNC:1970 CHST2 carbohydrate sulfotransferase 2 protein-coding gene gene with protein product Approved 3q24 03q24 C6ST carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 Sulfotransferases, membrane bound 763 1999-04-09 2016-03-18 2018-05-14 9435 ENSG00000175040 OTTHUMG00000159351 uc003evm.4 BC042160 NM_004267 CCDS3129 Q9Y4C5 10049591 MGI:1891160 RGD:1306988 603798 2.8.2.- HGNC:1970 "ENST00000309575.5|NM_004267.5" +HGNC:1971 CHST3 carbohydrate sulfotransferase 3 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "C6ST|C6ST1" chondroitin 6 sulfotransferase 1 carbohydrate (chondroitin 6) sulfotransferase 3 Sulfotransferases, membrane bound 763 1999-04-15 2016-05-04 2021-05-26 9469 ENSG00000122863 OTTHUMG00000018431 uc001jsn.4 AB017915 NM_004273 CCDS7312 Q7LGC8 "9883891|9714738" MGI:1858224 RGD:620355 603799 119431 2.8.2.17 HGNC:1971 "ENST00000373115.5|NM_004273.5" HGNC:1971 +HGNC:1972 CHST4 carbohydrate sulfotransferase 4 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "HEC-GLCNAC-6-ST|LSST" carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 Sulfotransferases, membrane bound 763 1999-12-07 2016-03-18 2016-03-18 10164 ENSG00000140835 OTTHUMG00000137592 uc002fan.4 AF131235 NM_005769 CCDS10902 Q8NCG5 10330415 MGI:1349479 RGD:1310798 2.8.2.- HGNC:1972 "ENST00000539698.4|NM_001166395.2" +HGNC:1973 CHST5 carbohydrate sulfotransferase 5 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "I-GLCNAC-6-ST|FLJ22167" carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 Sulfotransferases, membrane bound 763 1999-12-07 2016-03-18 2018-05-14 23563 ENSG00000135702 OTTHUMG00000137610 uc002fei.4 AF176839 NM_012126 CCDS10919 Q9GZS9 "10491328|11017086" MGI:1931825 604817 2.8.2.- HGNC:1973 "ENST00000336257.8|NM_024533.5" +HGNC:6938 CHST6 carbohydrate sulfotransferase 6 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 MCDC1 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 Sulfotransferases, membrane bound 763 1992-02-17 2016-03-18 2021-05-26 4166 ENSG00000183196 OTTHUMG00000137612 uc002fef.4 AF280086 NM_021615 CCDS10918 Q9GZX3 "8644739|11017086" MGI:1931825 RGD:1561144 LRG_1252|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1252.xml 605294 119435 2.8.2.- HGNC:6938 "ENST00000332272.9|NM_021615.5" HGNC:6938 +HGNC:13817 CHST7 carbohydrate sulfotransferase 7 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "C6ST-2|C6ST2" carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 Sulfotransferases, membrane bound 763 2000-11-09 2016-03-18 2018-05-14 56548 ENSG00000147119 OTTHUMG00000021423 uc004dgt.5 AB040711 NM_019886 CCDS14268 Q9NS84 10781596 MGI:1891767 RGD:1303028 300375 2.8.2.17 HGNC:13817 "ENST00000276055.4|NM_019886.4" +HGNC:15993 CHST8 carbohydrate sulfotransferase 8 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 GALNAC4ST-1 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 Sulfotransferases, membrane bound 763 2001-06-27 2016-03-18 2021-11-11 64377 ENSG00000124302 OTTHUMG00000180472 uc002nus.5 AB047801 NM_022467 CCDS12433 Q9H2A9 "10988300|11001942" MGI:1916197 RGD:1308979 610190 363954 2.8.2.- HGNC:15993 "ENST00000650847.1|NM_001127895.2" HGNC:15993 +HGNC:19898 CHST9 carbohydrate sulfotransferase 9 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "GALNAC4ST-2|GALNAC-4-ST2" carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 Sulfotransferases, membrane bound 763 2002-11-29 2016-03-18 2018-05-14 83539 ENSG00000154080 OTTHUMG00000179469 uc002kwe.5 AF239821 NM_031422 "CCDS58618|CCDS42422" Q7L1S5 "11139592|11445554" MGI:1918617 RGD:1307302 610191 2.8.1.- HGNC:19898 "ENST00000618847.5|NM_031422.6" +HGNC:19650 CHST10 carbohydrate sulfotransferase 10 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 HNK-1ST Sulfotransferases, membrane bound 763 2003-03-11 2018-05-14 9486 ENSG00000115526 OTTHUMG00000130669 uc002tam.4 BC010441 NM_004854 CCDS2047 O43529 12080076 MGI:2138283 RGD:621216 606376 2.8.2.- HGNC:19650 "ENST00000264249.8|NM_004854.5" +HGNC:17422 CHST11 carbohydrate sulfotransferase 11 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "C4ST1|C4St-1|C4ST|HSA269537" chondroitin 4-sulfotransferase 1 carbohydrate (chondroitin 4) sulfotransferase 11 "Sulfotransferases, membrane bound|MicroRNA protein coding host genes" "763|1691" 2003-08-06 2016-05-09 2021-05-26 50515 ENSG00000171310 OTTHUMG00000169803 uc001tkz.4 AB042326 NM_018413 "CCDS9099|CCDS55878" Q9NPF2 "10781601|29514872" MGI:1927166 RGD:1308400 610128 2.8.2.5 HGNC:17422 "ENST00000303694.6|NM_018413.6" HGNC:17422 +HGNC:17423 CHST12 carbohydrate sulfotransferase 12 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "C4S-2|C4ST2" chondroitin 4-sulfotransferase 2 carbohydrate (chondroitin 4) sulfotransferase 12 Sulfotransferases, membrane bound 763 2003-08-06 2016-05-09 2016-10-05 55501 ENSG00000136213 OTTHUMG00000023849 uc003smc.4 AF239822 NM_018641 CCDS5333 Q9NRB3 10781601 MGI:1929064 RGD:1308214 610129 2.8.2.5 HGNC:17423 "ENST00000618655.2|NM_018641.5" +HGNC:21755 CHST13 carbohydrate sulfotransferase 13 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 C4ST3 chondroitin 4-sulfotransferase 3 carbohydrate (chondroitin 4) sulfotransferase 13 Sulfotransferases, membrane bound 763 2003-08-06 2016-05-09 2016-05-09 166012 ENSG00000180767 OTTHUMG00000162721 uc003eja.4 AY120869 NM_152889 CCDS3039 Q8NET6 12080076 MGI:1919047 RGD:1562825 610124 2.8.2.5 HGNC:21755 "ENST00000319340.7|NM_152889.3" +HGNC:24464 CHST14 carbohydrate sulfotransferase 14 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "HD4ST|D4ST-1" D4ST1 "dermatan 4 sulfotransferase 1|carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14|carbohydrate (dermatan 4) sulfotransferase 14" Sulfotransferases, membrane bound 763 2004-02-24 2007-03-27 2016-05-09 2021-05-26 113189 ENSG00000169105 OTTHUMG00000129985 uc001zlw.4 AF401222 NM_130468 CCDS10059 Q8NCH0 11470797 MGI:1919386 RGD:1585023 LRG_600|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_600.xml 608429 226058 2.8.2.35 HGNC:24464 "ENST00000306243.7|NM_130468.4" HGNC:24464 +HGNC:18137 CHST15 carbohydrate sulfotransferase 15 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "GALNAC4S-6ST|BRAG|KIAA0598" "B cell RAG associated protein|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase" carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 Sulfotransferases, membrane bound 763 2009-05-20 2016-05-09 2016-10-05 51363 ENSG00000182022 OTTHUMG00000019208 uc001lhn.4 AB011170 NM_015892 "CCDS55731|CCDS7638" Q7LFX5 "9628581|9754571|11572857" MGI:1924840 RGD:628881 608277 2.8.2.33 HGNC:18137 "ENST00000435907.6|NM_001270764.2" +HGNC:17198 CHSY1 chondroitin sulfate synthase 1 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "KIAA0990|CSS1" carbohydrate (chondroitin) synthase 1 "Beta 4-glycosyltransferases|Beta 3-glycosyltransferases" "425|426" 2001-12-19 2008-01-24 2008-01-24 2021-05-26 22856 ENSG00000131873 OTTHUMG00000149873 uc021sxt.1 AB023207 NM_014918 CCDS10390 Q86X52 11514575 MGI:2681120 RGD:1311904 608183 365084 "2.4.1.175|2.4.1.226" HGNC:17198 "ENST00000254190.4|NM_014918.5" HGNC:17198 +HGNC:24293 CHSY3 chondroitin sulfate synthase 3 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 "CSS3|CHSY-2" "Beta 4-glycosyltransferases|Beta 3-glycosyltransferases" "425|426" 2008-01-24 2016-10-05 337876 ENSG00000198108 OTTHUMG00000163043 uc003kvd.4 AB086062 NM_175856 CCDS34223 Q70JA7 12907687 MGI:1926173 RGD:1560819 609963 "2.4.1.175|2.4.1.226" HGNC:24293 "ENST00000305031.5|NM_175856.5" +HGNC:24353 CHTF8 chromosome transmission fidelity factor 8 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ20400|CTF8" CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) 2009-01-14 2015-06-19 2018-11-21 54921 ENSG00000168802 OTTHUMG00000163909 uc002ewp.3 NM_017804 CCDS42185 P0CG13 12766176 MGI:2443370 RGD:1306894 613202 HGNC:24353 "ENST00000448552.7|NM_001039690.5" +HGNC:35443 CHTF8P1 chromosome transmission fidelity factor 8 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 CHTF8P "CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) pseudogene|CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) pseudogene 1|CHTF8 pseudogene 1" 2009-01-14 2010-01-19 2015-06-19 2015-06-19 677883 ENSG00000233543 OTTHUMG00000021397 NG_005539 HGNC:35443 +HGNC:18435 CHTF18 chromosome transmission fidelity factor 18 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CHL12|C321D2.4|Ctf18" C16orf41 "chromosome 16 open reading frame 41|CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)" AAA ATPases 413 2003-04-04 2015-06-19 2015-06-19 63922 ENSG00000127586 OTTHUMG00000047838 uc002cke.4 BC018184 NM_022092 CCDS45371 Q8WVB6 12171929 MGI:2384887 RGD:1310473 613201 HGNC:18435 "ENST00000262315.14|NM_022092.3" +HGNC:24511 CHTOP chromatin target of PRMT1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "DKFZP547E1010|SRAG|FOP" "small protein rich in arginine and glycine|Friend of Prmt1" C1orf77 chromosome 1 open reading frame 77 Transcription and export complex 1 subunits 1348 2005-05-20 2011-03-24 2011-03-24 2017-07-11 26097 ENSG00000160679 OTTHUMG00000037052 uc001fcm.3 NM_015607 "CCDS1048|CCDS81380|CCDS72918|CCDS72917" Q9Y3Y2 19254951 MGI:1913761 RGD:1359407 614206 HGNC:24511 "ENST00000368694.8|NM_015607.4" +HGNC:1974 CHUK component of inhibitor of nuclear factor kappa B kinase complex protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "IKK1|IKK-alpha|IkBKA|NFKBIKA|IKKA" "inhibitor of nuclear factor kappa-B kinase subunit alpha|I-kappa-B kinase" TCF16 conserved helix-loop-helix ubiquitous kinase "I kappa B kinases|IKK complex" "1802|1817" 1995-03-15 2019-02-21 2021-05-26 1147 ENSG00000213341 OTTHUMG00000018899 uc001kqp.4 AF009225 NM_001278 CCDS7488 O15111 "7558004|16902410" MGI:99484 RGD:1306661 600664 469582 objectId:1989 2.7.11.10 HGNC:1974 "ENST00000370397.8|NM_001278.5" HGNC:1974 +HGNC:55813 CHUK-DT CHUK divergent transcript non-coding RNA RNA, long non-coding Approved 10q24.31 10q24.31 Divergent transcripts 1990 2021-07-30 2021-09-29 122152368 ENSG00000227492 +HGNC:20099 CHURC1 churchill domain containing 1 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "My015|FLJ33064" C14orf52 2002-12-18 2004-05-07 2004-05-05 2016-04-25 91612 ENSG00000258289 OTTHUMG00000170218 uc059ckt.1 AF060510 NM_145165 "CCDS55922|CCDS32101|CCDS55921" Q8WUH1 MGI:1923684 RGD:1305116 608577 HGNC:20099 "ENST00000549115.7|NM_001386928.1" +HGNC:42960 CHURC1-FNTB CHURC1-FNTB readthrough other readthrough Approved 14q23.3 14q23.3 2011-09-28 2014-11-19 100529261 ENSG00000125954 OTTHUMG00000170219 uc059ckz.1 NM_001202558 MGI:1861305 HGNC:42960 +HGNC:14280 CIAO1 cytosolic iron-sulfur assembly component 1 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 CIA1 WDR39 "WD repeat domain 39|cytosolic iron-sulfur protein assembly 1 homolog (S. cerevisiae)|cytosolic iron-sulfur protein assembly 1" "WD repeat domain containing|Cytosolic iron-sulfur assembly components" "362|1028" 2005-01-18 2006-11-23 2014-01-13 2018-05-21 9391 ENSG00000144021 OTTHUMG00000130452 uc002svs.4 U63810 NM_004804 CCDS2019 O76071 "9556563|10493829" MGI:1346998 RGD:1307285 604333 HGNC:14280 "ENST00000488633.2|NM_004804.3" +HGNC:26235 CIAO2A cytosolic iron-sulfur assembly component 2A protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "FLJ22875|CIA2A" FAM96A family with sequence similarity 96 member A Cytosolic iron-sulfur assembly components 1028 2005-10-20 2018-05-17 2018-05-17 2018-05-17 84191 ENSG00000166797 OTTHUMG00000132961 uc002amt.3 NM_032231 "CCDS10189|CCDS45278" Q9H5X1 "23891004|25716227" MGI:1915500 RGD:1307481 618382 HGNC:26235 "ENST00000300030.8|NM_032231.7" +HGNC:43861 CIAO2AP1 CIAO2A pseudogene 1 pseudogene pseudogene Approved 3p24.1 03p24.1 FAM96AP1 "family with sequence similarity 96, member A pseudogene 1|family with sequence similarity 96 member A pseudogene 1" 2012-04-04 2021-03-24 2021-03-24 2021-03-24 106480777 ENSG00000234048 OTTHUMG00000155722 NG_045669 PGOHUM00000237564 HGNC:43861 +HGNC:43862 CIAO2AP2 CIAO2A pseudogene 2 pseudogene pseudogene Approved 1q42.13 01q42.13 FAM96AP2 "family with sequence similarity 96, member A pseudogene 2|family with sequence similarity 96 member A pseudogene 2" 2012-04-04 2021-03-24 2021-03-24 2021-03-24 391174 ENSG00000224566 OTTHUMG00000039501 NG_005999 PGOHUM00000244469 HGNC:43862 +HGNC:24261 CIAO2B cytosolic iron-sulfur assembly component 2B protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CGI-128|MIP18|CIA2B" FAM96B family with sequence similarity 96 member B Cytosolic iron-sulfur assembly components 1028 2005-10-20 2018-05-17 2018-05-17 2018-05-17 51647 ENSG00000166595 OTTHUMG00000175408 uc059vme.1 NM_016062 CCDS45506 Q9Y3D0 "11042152|10810093|23891004" MGI:1915773 RGD:1585802 614778 HGNC:24261 "ENST00000422424.7|NM_016062.4" +HGNC:14179 CIAO3 cytosolic iron-sulfur assembly component 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ21988|PRN|HPRN|IOP1|NAR1" iron-only hydrogenase-like protein 1 NARFL "nuclear prelamin A recognition factor-like|nuclear prelamin A recognition factor like" Cytosolic iron-sulfur assembly components 1028 2000-12-21 2018-05-17 2018-05-17 2018-05-17 64428 ENSG00000103245 OTTHUMG00000122093 uc002cjr.4 AY129231 NM_022493 "CCDS76798|CCDS10425" Q9H6Q4 16956324 MGI:1914813 RGD:1305982 611118 HGNC:14179 "ENST00000251588.7|NM_022493.3" +HGNC:28050 CIAPIN1 cytokine induced apoptosis inhibitor 1 protein-coding gene gene with protein product Approved 16q21 16q21 "Anamorsin|CIAE2" "Cytosolic iron-sulfur assembly components|7BS orphan methyltransferases" "1028|2066" 2004-08-16 2018-05-17 57019 ENSG00000005194 OTTHUMG00000133457 uc002ell.2 AF248964 NM_020313 "CCDS76876|CCDS10781|CCDS76877" Q6FI81 "21219862|27519415" MGI:1922083 RGD:1549737 608943 HGNC:28050 "ENST00000394391.9|NM_020313.4" +HGNC:31087 CIAPIN1P cytokine induced apoptosis inhibitor 1 pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 HsT2384 2005-10-06 2014-11-19 728599 ENSG00000263846 OTTHUMG00000179434 NG_054919 PGOHUM00000235033 HGNC:31087 +HGNC:25200 CIART circadian associated repressor of transcription protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "BC017397|CHRONO" "ChIP-derived repressor of network oscillator|computationally highlighted repressor of the network oscillator" C1orf51 chromosome 1 open reading frame 51 2005-02-02 2014-01-30 2014-01-30 2019-10-30 148523 ENSG00000159208 OTTHUMG00000012548 BC047238 NM_144697 "CCDS949|CCDS72906" Q8N365 24385426 MGI:2684975 RGD:1566380 615782 HGNC:25200 "ENST00000290363.6|NM_144697.4" +HGNC:16920 CIB1 calcium and integrin binding 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SIP2-28|CIB|KIP" calmyrin EF-hand domain containing 863 2002-05-08 2015-11-23 2021-05-26 10519 ENSG00000185043 OTTHUMG00000149808 uc002bpb.5 U82226 NM_001277764 "CCDS73781|CCDS10360" Q99828 "9030514|10826701" MGI:1344418 RGD:620133 602293 470098 HGNC:16920 "ENST00000328649.11|NM_006384.4" HGNC:16920 +HGNC:24579 CIB2 calcium and integrin binding family member 2 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 KIP2 kinase interacting protein 2 "DFNB48|USH1J" "deafness, autosomal recessive 48|Usher syndrome 1J (autosomal recessive)" EF-hand domain containing 863 2004-04-20 2021-05-26 10518 ENSG00000136425 OTTHUMG00000143731 uc002bdb.3 BC047381 NM_006383 "CCDS61723|CCDS61722|CCDS10296" O75838 "9931475|23023331" MGI:1929293 RGD:1308718 605564 316333 HGNC:24579 "ENST00000258930.8|NM_006383.4" HGNC:24579 +HGNC:24580 CIB3 calcium and integrin binding family member 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIP3 EF-hand domain containing 863 2004-02-12 2016-10-05 117286 ENSG00000141977 OTTHUMG00000182281 uc002nds.4 AB050868 NM_054113 "CCDS74305|CCDS12340" Q96Q77 MGI:2685953 RGD:1590245 610645 HGNC:24580 "ENST00000269878.8|NM_054113.4" +HGNC:33703 CIB4 calcium and integrin binding family member 4 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 EF-hand domain containing 863 2007-11-20 2014-11-19 130106 ENSG00000157884 OTTHUMG00000151993 uc002rhm.4 NM_001029881 CCDS33160 A0PJX0 15574431 MGI:1920509 RGD:1584147 610646 HGNC:33703 "ENST00000288861.5|NM_001029881.3" +HGNC:30452 CIBAR1 CBY1 interacting BAR domain containing 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "FLJ38979|BARMR1" "FAM92A1|FAM92A" "family with sequence similarity 92 member A1|family with sequence similarity 92 member A" 2005-09-22 2019-12-20 2019-12-20 2020-11-12 137392 ENSG00000188343 OTTHUMG00000164238 uc064ons.1 NM_145269 "CCDS64933|CCDS47892" A1XBS5 "27528616|30395363|32891772|32532973" MGI:1915349 RGD:1310681 617273 HGNC:30452 "ENST00000518322.6|NM_145269.5" HGNC:30452 +HGNC:43644 CIBAR1-DT CIBAR1 divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 LINC00535 long intergenic non-protein coding RNA 535 Divergent transcripts 1990 2011-12-13 2021-04-28 2021-04-28 2021-04-28 642924 ENSG00000246662 OTTHUMG00000164234 uc064onl.1 NR_033858 LINC00535 HGNC:43644 +HGNC:32278 CIBAR1P1 CIBAR1 pseudogene 1 pseudogene pseudogene Approved 15q15.1 15q15.1 "FAM92A2|FAM92A1P1" "family with sequence similarity 92, member A2|family with sequence similarity 92, member A1 pseudogene 1|family with sequence similarity 92 member A1 pseudogene 1" 2005-09-22 2019-12-20 2019-12-20 2019-12-20 729073 ENSG00000157021 OTTHUMG00000167701 NG_011983 HGNC:32278 +HGNC:32287 CIBAR1P2 CIBAR1 pseudogene 2 pseudogene pseudogene Approved 4q35.1 04q35.1 "MGC71735|MGC102964" "FAM92A3|FAM92A1P2" "family with sequence similarity 92, member A3|family with sequence similarity 92, member A1 pseudogene 2|family with sequence similarity 92 member A1 pseudogene 2" 2005-09-22 2019-12-20 2019-12-20 2019-12-20 403315 ENSG00000230219 OTTHUMG00000160675 BC022019 NR_003612 12477932 HGNC:32287 +HGNC:24781 CIBAR2 CBY1 interacting BAR domain containing 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FLJ44299 FAM92B family with sequence similarity 92 member B 2005-09-22 2019-12-20 2019-12-20 2020-02-28 339145 ENSG00000153789 OTTHUMG00000187060 uc059xyr.1 NM_198491 CCDS32500 Q6ZTR7 27528616 MGI:3588213 RGD:1560673 617274 HGNC:24781 "ENST00000539556.6|NM_198491.3" +HGNC:14214 CIC capicua transcriptional repressor protein-coding gene gene with protein product Approved 19q13.2 19q13.2 KIAA0306 "capicua (Drosophila) homolog|capicua homolog (Drosophila)" 2001-02-05 2013-03-15 2021-04-13 23152 ENSG00000079432 OTTHUMG00000182794 uc002otf.1 AB002304 NM_001304815 CCDS12601 Q96RK0 "12393275|15981098" MGI:1918972 RGD:1310706 LRG_999|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_999.xml CIC 612082 HGNC:14214 "ENST00000681038.1|NM_001386298.1" HGNC:14214 +HGNC:23936 CICP1 capicua transcriptional repressor pseudogene 1 pseudogene pseudogene Approved Yq11.23 Yq11.23 capicua homolog (Drosophila) pseudogene 1 2010-02-15 2013-03-15 2016-10-05 360017 ENSG00000233652 OTTHUMG00000045203 NG_002935 12815422 PGOHUM00000234073 HGNC:23936 +HGNC:23935 CICP2 capicua transcriptional repressor pseudogene 2 pseudogene pseudogene Approved Yq11.23 Yq11.23 capicua homolog (Drosophila) pseudogene 2 2010-02-15 2013-03-15 2016-10-05 360016 ENSG00000233740 OTTHUMG00000045105 NG_002934 12815422 PGOHUM00000233849 HGNC:23935 +HGNC:37742 CICP3 capicua transcriptional repressor pseudogene 3 pseudogene pseudogene Approved 1p36.33 01p36.33 capicua homolog (Drosophila) pseudogene 3 2010-02-15 2013-03-15 2014-11-19 100132630 ENSG00000229376 OTTHUMG00000057431 NG_016558 PGOHUM00000244570 HGNC:37742 +HGNC:37753 CICP4 capicua transcriptional repressor pseudogene 4 pseudogene pseudogene Approved 20q13.33 20q13.33 capicua homolog (Drosophila) pseudogene 4 2010-02-15 2013-03-15 2014-11-19 100132920 ENSG00000232852 OTTHUMG00000033035 NG_016559 PGOHUM00000247574 HGNC:37753 +HGNC:37754 CICP5 capicua transcriptional repressor pseudogene 5 pseudogene pseudogene Approved 1q42.11 01q42.11 capicua homolog (Drosophila) pseudogene 5 2010-02-15 2013-03-15 2013-03-15 730978 ENSG00000233771 OTTHUMG00000037469 NG_016560 PGOHUM00000245217 HGNC:37754 +HGNC:37755 CICP6 capicua transcriptional repressor pseudogene 6 pseudogene pseudogene Approved 3q29 03q29 capicua homolog (Drosophila) pseudogene 6 2010-02-15 2013-03-15 2014-11-19 100507251 ENSG00000230304 OTTHUMG00000155429 NG_028737 PGOHUM00000237920 HGNC:37755 +HGNC:37756 CICP7 capicua transcriptional repressor pseudogene 7 pseudogene pseudogene Approved 1p36.33 01p36.33 capicua homolog (Drosophila) pseudogene 7 2010-02-16 2013-03-15 2014-11-18 100288667 ENSG00000233653 OTTHUMG00000057429 NG_028822 PGOHUM00000243865 HGNC:37756 +HGNC:37757 CICP8 capicua transcriptional repressor pseudogene 8 pseudogene pseudogene Approved 7p11.2 07p11.2 capicua homolog (Drosophila) pseudogene 8 2010-02-16 2013-03-15 2013-03-15 442676 ENSG00000225371 OTTHUMG00000156226 NG_027793 PGOHUM00000233252 HGNC:37757 +HGNC:37758 CICP9 capicua transcriptional repressor pseudogene 9 pseudogene pseudogene Approved 10p11.1 10p11.1 capicua homolog (Drosophila) pseudogene 9 2010-02-16 2013-03-15 2014-11-19 100420293 ENSG00000228882 OTTHUMG00000017997 NG_025428 PGOHUM00000238422 HGNC:37758 +HGNC:37901 CICP10 capicua transcriptional repressor pseudogene 10 pseudogene pseudogene Approved 2q37.3 02q37.3 capicua homolog (Drosophila) pseudogene 10 2010-03-09 2013-03-15 2014-11-19 100462787 ENSG00000224160 OTTHUMG00000152147 NG_021554 PGOHUM00000240573 HGNC:37901 +HGNC:37903 CICP11 capicua transcriptional repressor pseudogene 11 pseudogene pseudogene Approved 7p11.2 07p11.2 capicua homolog (Drosophila) pseudogene 11 2010-03-09 2013-03-15 2014-11-19 100288904 ENSG00000237799 OTTHUMG00000156121 NG_022989 PGOHUM00000233242 HGNC:37903 +HGNC:37905 CICP12 capicua transcriptional repressor pseudogene 12 pseudogene pseudogene Approved 7p11.2 07p11.2 capicua homolog (Drosophila) pseudogene 12 2010-03-09 2013-03-15 2014-11-19 100420224 ENSG00000225270 OTTHUMG00000156173 NG_022557 PGOHUM00000233246 HGNC:37905 +HGNC:37907 CICP13 capicua transcriptional repressor pseudogene 13 pseudogene pseudogene Approved 1q41 01q41 capicua homolog (Drosophila) pseudogene 13 2010-03-09 2013-03-15 2014-11-19 728615 ENSG00000234419 OTTHUMG00000037480 NG_022827 PGOHUM00000245214 HGNC:37907 +HGNC:38542 CICP14 capicua transcriptional repressor pseudogene 14 pseudogene pseudogene Approved 7q32.1 07q32.1 capicua homolog (Drosophila) pseudogene 14 2010-06-08 2013-03-15 2016-11-09 100130600 ENSG00000281490 OTTHUMG00000184505 NG_023445 PGOHUM00000302417 HGNC:38542 +HGNC:38549 CICP15 capicua transcriptional repressor pseudogene 15 pseudogene pseudogene Approved 5q35.3 05q35.3 capicua homolog (Drosophila) pseudogene 15 2010-06-11 2013-03-15 2020-06-17 100507648 ENSG00000274553 NG_028182 PGOHUM00000235491 HGNC:38549 +HGNC:38550 CICP16 capicua transcriptional repressor pseudogene 16 pseudogene pseudogene Approved 4q26 04q26 capicua homolog (Drosophila) pseudogene 16 2010-06-11 2013-03-15 2014-11-19 100420203 ENSG00000248213 OTTHUMG00000161208 NG_022032 PGOHUM00000245672 HGNC:38550 +HGNC:48827 CICP17 capicua transcriptional repressor pseudogene 17 pseudogene pseudogene Approved 7p12.1 07p12.1 2013-06-17 2013-06-17 642663 ENSG00000227233 OTTHUMG00000156000 NG_028679 PGOHUM00000233227 HGNC:48827 +HGNC:48828 CICP18 capicua transcriptional repressor pseudogene 18 pseudogene pseudogene Approved 6p25.3 06p25.3 2013-06-17 2021-12-01 646070 ENSG00000217929 OTTHUMG00000014108 NG_022338 PGOHUM00000243466 HGNC:48828 +HGNC:48829 CICP19 capicua transcriptional repressor pseudogene 19 pseudogene pseudogene Approved 19p13.3 19p13.3 2013-06-17 2015-07-24 100506706 ENSG00000282059 OTTHUMG00000180463 NG_028701 PGOHUM00000234462 HGNC:48829 +HGNC:48830 CICP20 capicua transcriptional repressor pseudogene 20 pseudogene pseudogene Approved 7p12.3 07p12.3 2013-06-17 2013-06-17 100129050 ENSG00000235955 OTTHUMG00000155427 NG_022532 PGOHUM00000232679 HGNC:48830 +HGNC:48836 CICP21 capicua transcriptional repressor pseudogene 21 pseudogene pseudogene Approved 1q43 01q43 2013-06-17 2020-04-06 100420263 ENSG00000278455 OTTHUMG00000187558 NG_027229 PGOHUM00000245285 HGNC:48836 +HGNC:48838 CICP22 capicua transcriptional repressor pseudogene 22 pseudogene pseudogene Approved 7p14.1 07p14.1 2013-06-17 2013-06-17 100288083 ENSG00000226220 OTTHUMG00000155281 NG_028664 PGOHUM00000264519 HGNC:48838 +HGNC:48833 CICP23 capicua transcriptional repressor pseudogene 23 pseudogene pseudogene Approved 11p15.5 11p15.5 2013-06-17 2016-11-09 100505953 ENSG00000270921 OTTHUMG00000184851 NG_027976 PGOHUM00000290770 HGNC:48833 +HGNC:48831 CICP24 capicua transcriptional repressor pseudogene 24 pseudogene pseudogene Approved 7q11.21 07q11.21 2013-06-17 2020-04-20 107986730 ENSG00000271466 OTTHUMG00000184703 PGOHUM00000302229 HGNC:48831 +HGNC:48837 CICP25 capicua transcriptional repressor pseudogene 25 pseudogene pseudogene Approved 16q24.3 16q24.3 2013-06-17 2020-04-06 100289383 ENSG00000277349 OTTHUMG00000187992 NG_027975 PGOHUM00000264444 HGNC:48837 +HGNC:48834 CICP26 capicua transcriptional repressor pseudogene 26 pseudogene pseudogene Approved 1q42.13 01q42.13 2013-06-17 2013-06-17 648262 ENSG00000233003 OTTHUMG00000057827 NG_022756 PGOHUM00000244468 HGNC:48834 +HGNC:48835 CICP27 capicua transcriptional repressor pseudogene 27 pseudogene pseudogene Approved 1p36.33 01p36.33 2013-06-17 2013-06-17 100420257 ENSG00000233750 OTTHUMG00000001257 NG_027060 PGOHUM00000244554 HGNC:48835 +HGNC:48832 CICP28 capicua transcriptional repressor pseudogene 28 pseudogene pseudogene Approved 7p11.2 07p11.2 2013-06-17 2020-04-06 100287136 ENSG00000277253 OTTHUMG00000187673 NG_022558 PGOHUM00000233264 HGNC:48832 +HGNC:1976 CIDEA cell death inducing DFFA like effector a protein-coding gene gene with protein product Approved 18p11.21 18p11.21 CIDE-A cell death-inducing DFFA-like effector a 1998-07-15 2018-10-08 2018-10-08 1149 ENSG00000176194 OTTHUMG00000131691 uc002kqt.5 AF041378 NM_001279 CCDS11856 O60543 "9564035|18509062" MGI:1270845 RGD:1305106 604440 HGNC:1976 "ENST00000320477.10|NM_001279.4" +HGNC:1977 CIDEB cell death inducing DFFA like effector b protein-coding gene gene with protein product Approved 14q12 14q12 cell death-inducing DFFA-like effector b 2000-01-20 2018-10-08 2018-10-08 27141 ENSG00000136305 OTTHUMG00000171555 uc001woo.4 AF190901 NM_001318807 CCDS32056 Q9UHD4 "10619428|10837461" MGI:1270844 RGD:1310000 604441 HGNC:1977 "ENST00000554411.6|NM_001393339.1" +HGNC:24229 CIDEC cell death inducing DFFA like effector c protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "CIDE-3|FLJ20871|Fsp27" cell death-inducing DFFA-like effector c 2004-07-26 2016-01-26 2021-05-26 63924 ENSG00000187288 OTTHUMG00000128522 uc003btq.4 NM_022094 "CCDS74897|CCDS82731|CCDS2587|CCDS56239" Q96AQ7 12429024 MGI:95585 RGD:1562113 612120 444087 HGNC:24229 "ENST00000336832.7|NM_001321142.2" HGNC:24229 +HGNC:24230 CIDECP1 cell death inducing DFFA like effector c pseudogene 1 pseudogene pseudogene Approved 3p25.3 03p25.3 CICE CIDECP cell death-inducing DFFA-like effector c pseudogene 2007-07-26 2018-10-08 2018-10-08 2018-10-08 152302 ENSG00000186162 OTTHUMG00000155323 AF279614 NR_002786 HGNC:24230 +HGNC:7067 CIITA class II major histocompatibility complex transactivator protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "C2TA|NLRA" "NLR family, acid domain containing|nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing" MHC2TA "MHC class II transactivator|class II, major histocompatibility complex, transactivator" NLR family 666 1997-06-12 2005-08-12 2016-07-14 2021-05-26 4261 ENSG00000179583 OTTHUMG00000129753 uc002dai.5 U18259 NM_000246 "CCDS73826|CCDS10544|CCDS66943" P33076 8402893 MGI:108445 RGD:619813 "CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase)|http://structure.bmc.lu.se/idbase/CIITAbase/|LRG_49|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_49.xml" CIITA 600005 119442 objectId:1767 HGNC:7067 "ENST00000324288.14|NM_000246.4" HGNC:7067 +HGNC:21219 CILK1 ciliogenesis associated kinase 1 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "MRK|LCK2|KIAA0936|MGC46090" "serine/threonine-protein kinase ICK|MAK-related kinase" ICK "intestinal cell (MAK-like) kinase|intestinal cell kinase" 2003-08-21 2019-09-19 2019-09-20 2021-05-26 22858 ENSG00000112144 OTTHUMG00000014870 uc003pbh.3 AB023153 NM_016513 CCDS4949 Q9UPZ9 12103360 MGI:1934157 RGD:71050 612325 201496 objectId:2038 HGNC:21219 "ENST00000676107.1|NM_014920.5" HGNC:21219 +HGNC:1980 CILP cartilage intermediate layer protein protein-coding gene gene with protein product Approved 15q22.31 15q22.31 HsT18872 cartilage intermediate layer protein, nucleotide pyrophosphohydrolase Immunoglobulin like domain containing 594 1998-08-18 2015-11-24 2016-10-05 8483 ENSG00000138615 OTTHUMG00000133140 uc002aon.3 AY358904 NM_003613 CCDS10203 O75339 "9722584|9722583" MGI:2444507 RGD:1305124 603489 HGNC:1980 "ENST00000261883.6|NM_003613.4" +HGNC:24213 CILP2 cartilage intermediate layer protein 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MGC45771 Immunoglobulin like domain containing 594 2004-02-13 2019-08-20 148113 ENSG00000160161 OTTHUMG00000182148 uc002nmv.4 AF542080 NM_153221 CCDS12405 Q8IUL8 21880736 MGI:1915959 RGD:1311157 612419 HGNC:24213 "ENST00000291495.5|NM_153221.2" +HGNC:23789 CINP cyclin dependent kinase 2 interacting protein protein-coding gene gene with protein product Approved 14q32.31 14q32.31 MGC849 2009-08-14 2016-06-08 2016-10-05 51550 ENSG00000100865 OTTHUMG00000171775 uc059fna.1 "AK056112|AF228148|AF228149" NM_032630 "CCDS53915|CCDS9972" Q9BW66 16082200 MGI:1914486 RGD:1563395 613362 HGNC:23789 "ENST00000216756.11|NM_032630.3" +HGNC:29302 CIP2A cellular inhibitor of PP2A protein-coding gene gene with protein product Approved 3q13.13 03q13.13 cancerous inhibitor of protein phosphatase 2A KIAA1524 "KIAA1524|cell proliferation regulating inhibitor of protein phosphatase 2A" Armadillo like helical domain containing 1492 2005-01-24 2017-07-06 2019-10-09 2021-05-26 57650 ENSG00000163507 OTTHUMG00000159233 uc003dxb.5 AB040957 NM_020890 CCDS33812 Q8TCG1 "10819331|25736928|24214971" MGI:2146335 RGD:1310335 610643 HGNC:29302 "ENST00000295746.13|NM_020890.3" +HGNC:20365 CIPC CLOCK interacting pacemaker protein-coding gene gene with protein product Approved 14q24.3 14q24.3 CLOCK-interacting protein, circadian KIAA1737 KIAA1737 2003-11-21 2014-01-10 2016-07-05 2016-07-05 85457 ENSG00000198894 OTTHUMG00000171573 AB051524 NM_033426 CCDS9855 Q9C0C6 "17310242|19414601" MGI:1919185 RGD:1309492 616995 470100 HGNC:20365 "ENST00000361786.7|NM_033426.3" +HGNC:24217 CIR1 corepressor interacting with RBPJ, CIR1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 CIR "recepin|CBF1 interacting corepressor" "corepressor interacting with RBPJ, 1|CBF1 (RBPJ) interacting corepressor 1" 2009-07-14 2020-01-31 2020-01-31 9541 ENSG00000138433 OTTHUMG00000132338 uc002uim.4 AF098297 NM_004882 CCDS2256 Q86X95 "15652350|11222720|9874765" MGI:1914185 RGD:1309199 605228 HGNC:24217 "ENST00000342016.8|NM_004882.4" +HGNC:44011 CIR1P1 CIR1 pseudogene 1 pseudogene pseudogene Approved 5q33.2 05q33.2 corepressor interacting with RBPJ, 1 pseudogene 1 2012-05-28 2020-01-10 2020-01-10 100131740 ENSG00000253146 OTTHUMG00000164140 NG_021866 PGOHUM00000235431 HGNC:44011 +HGNC:44012 CIR1P2 CIR1 pseudogene 2 pseudogene pseudogene Approved 4q26 04q26 corepressor interacting with RBPJ, 1 pseudogene 2 2012-05-28 2020-01-10 2020-01-10 100131828 ENSG00000250215 OTTHUMG00000161092 NG_022027 PGOHUM00000245663 HGNC:44012 +HGNC:44013 CIR1P3 CIR1 pseudogene 3 pseudogene pseudogene Approved 11p13 11p13 corepressor interacting with RBPJ, 1 pseudogene 3 2012-05-28 2020-01-10 2020-01-10 106480783 ENSG00000216708 OTTHUMG00000044383 NG_044033 PGOHUM00000242635 HGNC:44013 +HGNC:1982 CIRBP cold inducible RNA binding protein protein-coding gene gene with protein product Approved 19p13.3 19p13.3 CIRP "Cold-inducible RNA-binding protein|glycine-rich RNA binding protein" cold inducible RNA-binding protein RNA binding motif containing 725 1997-12-05 2001-11-28 2014-11-18 1153 ENSG00000099622 OTTHUMG00000180145 uc060qxg.1 D78134 NM_001280 "CCDS74244|CCDS74245|CCDS12059" Q14011 "9434172|9151692" MGI:893588 RGD:620756 602649 HGNC:1982 "ENST00000587896.6|NM_001300829.2" +HGNC:28588 CIRBP-AS1 CIRBP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 MGC39338 C19orf23 "chromosome 19 open reading frame 23|CIRBP antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-03-16 2011-11-23 2012-08-15 2020-01-06 148046 ENSG00000267493 OTTHUMG00000180146 uc010xgk.5 BC026041 NR_027271 Q8TBR5 12477932 CIRBP-AS1 HGNC:28588 +HGNC:53647 CIROP ciliated left-right organizer metallopeptidase protein-coding gene gene with protein product Approved 14q11.2 14q11.2 LMLN2 leishmanolysin like peptidase 2 2017-08-11 2022-01-18 2022-01-18 2022-01-18 100128908 ENSG00000283654 OTTHUMG00000191651 NM_001354640 CCDS86373 A0A1B0GTW7 34903892 MGI:5588935 RGD:1560492 619703 HGNC:53647 "ENST00000637218.2|NM_001354640.2" +HGNC:30880 CISD1 CDGSH iron sulfur domain 1 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "MDS029|mitoNEET" "C10orf70|ZCD1" "chromosome 10 open reading frame 70|zinc finger, CDGSH-type domain 1" CDGSH iron sulfur domain containing 481 2004-02-05 2007-08-10 2007-08-10 2016-10-05 55847 ENSG00000122873 OTTHUMG00000018266 uc001jkc.6 AY960578 NM_018464 CCDS7251 Q9NZ45 "17376863|17584744" MGI:1261855 RGD:1309529 611932 HGNC:30880 "ENST00000333926.6|NM_018464.5" +HGNC:29611 CISD1P1 CDGSH iron sulfur domain 1 pseudogene 1 pseudogene pseudogene Approved 2p24.1 02p24.1 "ZCD1B|CISD1B" "zinc finger, CDGSH-type domain 1B|CDGSH iron sulfur domain 1B|CDGSH iron sulfur domain 1B pseudogene" 2006-06-30 2011-04-28 2011-04-28 2014-11-19 130500 ENSG00000213403 OTTHUMG00000151771 NG_005172 PGOHUM00000240590 HGNC:29611 +HGNC:24212 CISD2 CDGSH iron sulfur domain 2 protein-coding gene gene with protein product Approved 4q24 04q24 "Miner1|ERIS|NAF-1" "mitoNEET related 1|endoplasmic reticulum intermembrane small protein|nutrient-deprivation autophagy factor-1" "ZCD2|WFS2" "zinc finger, CDGSH-type domain 2|Wolfram syndrome 2" CDGSH iron sulfur domain containing 481 2006-06-30 2007-08-10 2007-08-10 2021-05-26 493856 ENSG00000145354 OTTHUMG00000161014 uc003hwt.5 BX537971 NM_001008388 CCDS34040 Q8N5K1 "17376863|17584744|17846994" MGI:1914256 RGD:1566242 LRG_1266|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1266.xml 611507 166722 HGNC:24212 "ENST00000273986.10|NM_001008388.5" HGNC:24212 +HGNC:27578 CISD3 CDGSH iron sulfur domain 3 protein-coding gene gene with protein product Approved 17q12 17q12 "Miner2|MiNT" mitoNEET related 2 CDGSH iron sulfur domain containing 481 2007-08-10 2019-09-05 284106 ENSG00000277972 OTTHUMG00000188500 uc032gls.2 AK097047 NM_001136498 CCDS45662 P0C7P0 "17376863|17584744" MGI:101788 RGD:1559720 611933 HGNC:27578 "ENST00000613478.2|NM_001136498.2" +HGNC:1984 CISH cytokine inducible SH2 containing protein protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "CIS|G18|CIS-1|SOCS" cytokine inducible SH2-containing protein "SH2 domain containing|Suppressors of cytokine signaling" "741|764" 1996-09-23 2016-04-04 2016-10-05 1154 ENSG00000114737 OTTHUMG00000156853 uc003dax.4 Z77852 NM_145071 "CCDS46834|CCDS2831" Q9NSE2 "9465889|7796808" MGI:103159 RGD:69261 602441 HGNC:1984 "ENST00000348721.4|NM_145071.4" +HGNC:49426 CISTR chondrogenesis-associated transcript non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 "CISTR-ACT|CISTRACT|re52431" cis- and trans-chromosomal chondrogenic regulator transcript Long non-coding RNAs with non-systematic symbols 1992 2014-01-14 2014-01-14 2018-08-16 102216268 ENSG00000260492 OTTHUMG00000173078 "DA125942|HY042141" NR_104332 23093776 MGI:5621321 RGD:7365122 CISTR HGNC:49426 +HGNC:1985 CIT citron rho-interacting serine/threonine kinase protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "KIAA0949|STK21|CRIK|CITK" serine/threonine kinase 21 citron (rho-interacting, serine/threonine kinase 21) "AGC family kinases|MicroRNA protein coding host genes" "1625|1691" 1999-08-05 2014-04-23 2016-10-04 11113 ENSG00000122966 OTTHUMG00000134325 uc001txi.3 AB023166 NM_007174 "CCDS55891|CCDS9192" O14578 9792683 MGI:105313 RGD:70878 605629 464175 objectId:1509 2.7.11.1 HGNC:1985 "ENST00000392521.7|NM_001206999.2" HGNC:1985 +HGNC:1986 CITED1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 MSG1 Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 1 1998-03-27 2016-02-24 2020-04-02 4435 ENSG00000125931 OTTHUMG00000021812 uc004eat.4 U65092 NM_004143 "CCDS48136|CCDS14419" Q99966 "8901575|9721210" MGI:108023 RGD:620781 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CITED1 300149 HGNC:1986 "ENST00000651998.1|NM_001144887.2" +HGNC:1987 CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 MRG1 Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 2 1999-06-11 2016-02-24 2016-10-05 10370 ENSG00000164442 OTTHUMG00000015691 uc003qip.3 U65093 NM_001168388 "CCDS75530|CCDS5195" Q99967 "8901575|10552932" MGI:1306784 RGD:620112 602937 240691 HGNC:1987 "ENST00000367651.4|NM_006079.5" HGNC:1987 +HGNC:18696 CITED4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 transcriptional co-activator 4 Cbp/p300-interacting transactivator, with Glu/Asp rich carboxy-terminal domain, 4 2002-05-29 2016-02-24 2016-10-05 163732 ENSG00000179862 OTTHUMG00000007728 uc001cgj.4 AF362074 NM_133467 CCDS458 Q96RK1 11744733 MGI:1861694 RGD:620113 606815 HGNC:18696 "ENST00000372638.4|NM_133467.3" +HGNC:16744 CIZ1 CDKN1A interacting zinc finger protein 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "LSFR1|ZNF356" 2003-10-22 2016-10-05 25792 ENSG00000148337 OTTHUMG00000020735 uc004btt.4 AB030835 NM_012127 "CCDS75910|CCDS48033|CCDS48034|CCDS59147|CCDS6894" Q9ULV3 10529385 MGI:1920234 RGD:1305336 611420 470102 HGNC:16744 "ENST00000372938.10|NM_001131016.2" HGNC:16744 +HGNC:1990 CKAP2 cytoskeleton associated protein 2 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "LB1|FLJ10749|se20-10|TMAP" tumor-associated microtubule-associated protein 1999-12-01 2019-09-05 26586 ENSG00000136108 OTTHUMG00000016967 uc001vgu.4 AF177227 NM_001098525 "CCDS66557|CCDS9435|CCDS41893|CCDS73578" Q8WWK9 "9771967|27055594" MGI:1931797 RGD:1311631 611569 HGNC:1990 "ENST00000258607.10|NM_018204.5" +HGNC:56053 CKAP2-DT CKAP2 divergent transcript non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 Divergent transcripts 1990 2021-12-09 2021-12-09 123706541 ENSG00000278238 +HGNC:26877 CKAP2L cytoskeleton associated protein 2 like protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FLJ40629|radmis" radial fiber and mitotic spindle 2006-03-24 2015-11-26 2019-06-03 150468 ENSG00000169607 OTTHUMG00000131313 uc002tie.3 AL832036 NM_152515 CCDS2100 Q8IYA6 "24260314|25439729" MGI:1917716 RGD:1590645 616174 418214 HGNC:26877 "ENST00000302450.11|NM_152515.5" HGNC:26877 +HGNC:54420 CKAP2LP1 CKAP2L pseudogene 1 pseudogene pseudogene Approved 20p13 20p13 2019-07-16 2019-07-16 100533711 ENSG00000271461 NG_028866 HGNC:54420 +HGNC:49923 CKAP2P1 cytoskeleton associated protein 2 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 2014-03-21 2014-03-21 100420763 ENSG00000258722 OTTHUMG00000171363 NG_027249 PGOHUM00000247733 HGNC:49923 +HGNC:16991 CKAP4 cytoskeleton associated protein 4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "P63|CLIMP-63|ERGIC-63" cytoskeleton-associated protein 4 2001-11-14 2016-07-04 2019-04-16 10970 ENSG00000136026 OTTHUMG00000170085 uc001tlk.4 X69910 NM_006825 CCDS9103 Q07065 8314870 MGI:2444926 RGD:1311989 618595 HGNC:16991 "ENST00000378026.5|NM_006825.4" +HGNC:28959 CKAP5 cytoskeleton associated protein 5 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "ch-TOG|KIAA0097|TOG|TOGp" "TOG domain containing|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1495|1691|1835" 2005-06-01 2014-11-19 9793 ENSG00000175216 OTTHUMG00000166599 uc001ndi.3 NM_014756 "CCDS31477|CCDS7924" Q14008 "7788527|8536682" MGI:1923036 RGD:1563596 611142 HGNC:28959 "ENST00000529230.6|NM_001008938.4" +HGNC:1991 CKB creatine kinase B protein-coding gene gene with protein product Approved 14q32.33 14q32.33 creatine kinase brain-type CKBB creatine kinase, brain 2001-06-22 2016-03-18 2016-10-05 1152 ENSG00000166165 OTTHUMG00000171786 uc001ynf.3 NM_001362531 CCDS9981 P12277 25810257 MGI:88407 RGD:2357 123280 2.7.3.2 HGNC:1991 "ENST00000348956.7|NM_001823.5" +HGNC:1993 CKBP1 creatine kinase B pseudogene 1 pseudogene pseudogene Approved 16q11.2 16q11.2 1992-11-26 2012-10-16 1157 ENSG00000260889 OTTHUMG00000175603 M60806 NG_001535 "1676982|2883200" PGOHUM00000261881 HGNC:1993 +HGNC:13253 CKLF chemokine like factor protein-coding gene gene with protein product Approved 16q21 16q21 "UCK-1|CKLF3|CKLF4|HSPC224|C32" CKLF1 chemokine-like factor 1 2001-08-23 2003-03-07 2016-07-14 2016-10-05 51192 ENSG00000217555 OTTHUMG00000137504 uc002eow.4 AF096895 NM_016326 "CCDS10809|CCDS10806|CCDS10808|CCDS45502|CCDS10807" Q9UBR5 "11042152|11415443" MGI:1922708 RGD:620708 616074 HGNC:13253 "ENST00000264001.9|NM_016951.4" +HGNC:39977 CKLF-CMTM1 CKLF-CMTM1 readthrough other readthrough Approved 16q21 16q21 2011-04-19 2016-10-05 100529251 ENSG00000254788 OTTHUMG00000167106 uc021tju.2 NM_001202509 "CCDS73899|CCDS73898|CCDS56000" HGNC:39977 +HGNC:1994 CKM creatine kinase, M-type protein-coding gene gene with protein product Approved 19q13.32 19q13.32 CKMM creatine kinase, muscle 2001-06-22 2016-02-10 2016-02-10 1158 ENSG00000104879 OTTHUMG00000181782 uc002pbd.5 M14780 NM_001824 CCDS12659 P06732 MGI:88413 RGD:2358 123310 2.7.3.2 HGNC:1994 "ENST00000221476.4|NM_001824.5" +HGNC:31736 CKMT1A creatine kinase, mitochondrial 1A protein-coding gene gene with protein product Approved 15q15.3 15q15.3 CKMT1 creatine kinase, mitochondrial 1 (ubiquitous) 2005-04-15 2016-10-05 548596 ENSG00000223572 OTTHUMG00000059898 uc001zsn.3 "BC001926|BC006467" NM_001015001 CCDS32217 P12532 MGI:99441 613415 2.7.3.2 HGNC:31736 "ENST00000413453.7|NM_001321926.2" +HGNC:1995 CKMT1B creatine kinase, mitochondrial 1B protein-coding gene gene with protein product Approved 15q15.3 15q15.3 UMTCK "CKMT|CKMT1" creatine kinase, mitochondrial 1 (ubiquitous) 1989-04-13 2005-04-15 2016-10-05 1159 ENSG00000237289 OTTHUMG00000059900 uc001zsc.3 "AK094322|J04469" NM_020990 CCDS10097 P12532 MGI:99441 RGD:61976 123290 2.7.3.2 HGNC:1995 "ENST00000441322.6|NM_001375484.1" +HGNC:1996 CKMT2 creatine kinase, mitochondrial 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 SMTCK creatine kinase, mitochondrial 2 (sarcomeric) 1992-10-14 2015-11-26 2015-11-26 1160 ENSG00000131730 OTTHUMG00000119013 uc003khd.5 NM_001825 CCDS4053 P17540 2324105 MGI:1923972 RGD:61977 123295 2.7.3.2 HGNC:1996 "ENST00000254035.9|NM_001099735.2" +HGNC:48997 CKMT2-AS1 CKMT2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 Antisense RNAs 1987 2013-07-26 2017-08-30 100131067 ENSG00000247572 OTTHUMG00000162566 NR_034121 28839111 CKMT2-AS1 HGNC:48997 +HGNC:19083 CKS1B CDC28 protein kinase regulatory subunit 1B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "ckshs1|CKS1" CDC28 protein kinase 1B MicroRNA protein coding host genes 1691 2002-08-08 2002-10-07 2016-10-05 1163 ENSG00000173207 OTTHUMG00000037413 uc001fgb.4 BC007751 NM_001826 CCDS1077 P61024 2227411 MGI:1889208 RGD:1561797 116900 HGNC:19083 "ENST00000308987.6|NM_001826.3" +HGNC:20004 CKS1BP1 CDC28 protein kinase regulatory subunit 1B pseudogene 1 pseudogene pseudogene Approved 14q32.2 14q32.2 CKS1BP CDC28 protein kinase regulatory subunit 1B pseudogene 2003-01-13 2009-11-25 2009-11-25 2016-10-05 317780 ENSG00000258788 OTTHUMG00000171411 NG_002475 PGOHUM00000292759 HGNC:20004 +HGNC:24232 CKS1BP2 CDC28 protein kinase regulatory subunit 1B pseudogene 2 pseudogene pseudogene Approved 10p11.23 10p11.23 bA192N10.2 2004-04-22 2016-08-16 246714 ENSG00000225976 OTTHUMG00000017883 NG_001578 HGNC:24232 +HGNC:24233 CKS1BP3 CDC28 protein kinase regulatory subunit 1B pseudogene 3 pseudogene pseudogene Approved 5q12.1 05q12.1 2004-04-22 2014-10-14 246715 ENSG00000268942 OTTHUMG00000187230 NG_001579 HGNC:24233 +HGNC:17395 CKS1BP4 CDC28 protein kinase regulatory subunit 1B pseudogene 4 pseudogene pseudogene Approved 11q14.1 11q14.1 2009-11-25 2020-04-06 100499259 ENSG00000255541 OTTHUMG00000167076 NG_023440 PGOHUM00000291060 HGNC:17395 +HGNC:17640 CKS1BP5 CDC28 protein kinase regulatory subunit 1B pseudogene 5 pseudogene pseudogene Approved 5q31.3 05q31.3 2009-11-25 2014-11-19 100526793 ENSG00000250972 OTTHUMG00000163167 NG_027929 PGOHUM00000235801 HGNC:17640 +HGNC:24608 CKS1BP6 CDC28 protein kinase regulatory subunit 1B pseudogene 6 pseudogene pseudogene Approved Xp21.2 Xp21.2 2009-11-25 2014-11-19 652904 ENSG00000178556 OTTHUMG00000021326 NG_012762 HGNC:24608 +HGNC:1999 CKS1BP7 CDC28 protein kinase regulatory subunit 1B pseudogene 7 pseudogene pseudogene Approved 8q21.13 08q21.13 "CKS1|CKS1A" "CDC28 protein kinase 1|CDC28 protein kinase regulatory subunit 1A|CDC28 protein kinase regulatory subunit 1A pseudogene" 1996-03-12 2011-04-28 2011-04-28 2011-04-28 137529 ENSG00000254331 OTTHUMG00000164749 NG_001577 8697818 PGOHUM00000249403 HGNC:1999 +HGNC:2000 CKS2 CDC28 protein kinase regulatory subunit 2 protein-coding gene gene with protein product Approved 9q22.2 09q22.2 CDC28 protein kinase 2 MicroRNA protein coding host genes 1691 1996-03-12 2002-10-07 2016-10-05 1164 ENSG00000123975 OTTHUMG00000020180 uc004aqh.3 X54942 NM_001827 CCDS6682 P33552 "2227411|8697818" MGI:1913447 RGD:1562047 116901 HGNC:2000 "ENST00000314355.7|NM_001827.3" +HGNC:17088 CLASP1 cytoplasmic linker associated protein 1 protein-coding gene gene with protein product Approved 2q14.2-q14.3 02q14.2-q14.3 "KIAA0622|MAST1" "multiple asters 1|CLIP-associating protein 1" TOG domain containing 1495 2002-06-12 2021-05-26 23332 ENSG00000074054 OTTHUMG00000153331 uc061nli.1 AB014522 NM_015282 Q7Z460 "9734811|10899121|16914514" MGI:1923957 RGD:1310970 605852 470636 HGNC:17088 +HGNC:55328 CLASP1-AS1 CLASP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.2 02q14.2 Antisense RNAs 1987 2020-10-21 2020-10-21 107985942 ENSG00000265451 XR_001739683 +HGNC:17078 CLASP2 cytoplasmic linker associated protein 2 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 KIAA0627 TOG domain containing 1495 2002-06-12 2016-10-05 23122 ENSG00000163539 OTTHUMG00000156489 uc062hxz.1 AB014527 NM_001207044 O75122 "9734811|10899121" MGI:1923749 RGD:619789 605853 HGNC:17078 "ENST00000682230.1|NM_001365631.1" +HGNC:17731 CLASRP CLK4 associating serine/arginine rich protein protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "SWAP2|CLASP" Clk4 associating SR-related protein SFRS16 "splicing factor, arginine/serine-rich 16|CLK4-associating serine/arginine rich protein" 2003-08-06 2010-09-21 2016-04-29 2016-10-05 11129 ENSG00000104859 OTTHUMG00000150189 uc002pak.3 AF042800 NM_007056 "CCDS12652|CCDS62710" Q8N2M8 12169693 MGI:1855695 RGD:1563538 618532 HGNC:17731 "ENST00000221455.8|NM_007056.3" +HGNC:20126 CLBA1 clathrin binding box of aftiphilin containing 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 C14orf79 chromosome 14 open reading frame 79 2003-01-13 2017-06-30 2017-07-20 2017-07-20 122616 ENSG00000140104 OTTHUMG00000170474 uc001ypy.2 NM_174891 CCDS42000 Q96F83 MGI:2443738 RGD:1307315 HGNC:20126 "ENST00000547315.6|NM_174891.4" +HGNC:2014 CLC Charcot-Leyden crystal galectin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "LGALS10|MGC149659|Gal-10" "eosinophil lysophospholipase|lysolecithin acylhydrolase|galectin 10|lectin, galactoside-binding, soluble, 10" Charcot-Leyden crystal protein Galectins 629 1991-07-31 2013-06-12 2016-10-05 1178 ENSG00000105205 OTTHUMG00000183144 uc002omh.4 L01664 NM_001828 CCDS33025 Q05315 "1577491|11834744" 153310 HGNC:2014 "ENST00000221804.5|NM_001828.6" +HGNC:2015 CLCA1 chloride channel accessory 1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "CaCC|CLCRG1" "chloride channel, calcium activated, family member 1|chloride channel regulator 1" Chloride channel accessory 867 1998-06-25 2009-01-29 2016-10-12 1179 ENSG00000016490 OTTHUMG00000010254 uc057ibt.1 NM_001285 CCDS709 A8K7I4 9828122 MGI:1346342 RGD:1306258 603906 HGNC:2015 "ENST00000394711.2|NM_001285.4" +HGNC:2016 CLCA2 chloride channel accessory 2 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 CLCRG2 "chloride channel, calcium activated, family member 2|chloride channel regulator 2" Chloride channel accessory 867 1998-09-29 2009-01-29 2015-08-28 9635 ENSG00000137975 OTTHUMG00000010256 uc001dlr.5 NM_006536 CCDS708 Q9UQC9 MGI:2139758 RGD:1304894 604003 HGNC:2016 "ENST00000370565.5|NM_006536.7" HGNC:2016 +HGNC:2017 CLCA3P chloride channel accessory 3, pseudogene pseudogene pseudogene Approved 1p22.3 01p22.3 CLCA3 "chloride channel, calcium activated, family member 3|chloride channel regulator 3" Chloride channel accessory 867 1998-10-02 2009-01-29 2011-04-15 2021-10-07 9629 ENSG00000153923 OTTHUMG00000010258 AF043976 NR_02460 Q9Y6N3 10095065 604337 PGOHUM00000296385 HGNC:2017 +HGNC:2018 CLCA4 chloride channel accessory 4 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 CaCC2 "chloride channel, calcium activated, family member 4|chloride channel regulator 4" Chloride channel accessory 867 1999-11-26 2009-01-29 2015-09-01 22802 ENSG00000016602 OTTHUMG00000010260 uc009wcs.4 AF127035 NM_012128 CCDS41355 Q14CN2 10437792 "MGI:2139744|MGI:2139790" RGD:1303234 616857 353921 HGNC:2018 "ENST00000370563.3|NM_012128.4" +HGNC:54055 CLCA4-AS1 CLCA4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.3 01p22.3 Antisense RNAs 1987 2018-09-26 2018-09-26 105378828 ENSG00000236915 NR_135837 HGNC:54055 +HGNC:29675 CLCC1 chloride channel CLIC like 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 MCLC Mid1-related chloride channel (yeast) chloride channel CLIC-like 1 Tetraspan junctional complex superfamily 1471 2005-08-04 2016-01-19 2017-08-18 23155 ENSG00000121940 OTTHUMG00000011732 uc021ora.2 AB018304 NM_015127 "CCDS41362|CCDS60215|CCDS60214|CCDS793" Q96S66 "9872452|11279057" MGI:2385186 RGD:708359 617539 HGNC:29675 "ENST00000369969.7|NM_001377458.1" +HGNC:17412 CLCF1 cardiotrophin like cytokine factor 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "NNT1|BSF3|CLC|NR6|CISS2|BSF-3|NNT-1" "B-cell stimulating factor 3|cold-induced sweating syndrome 2|novel neurotrophin-1" CRLF1 associated cytokine-like factor 1 Interleukin 6 type cytokine family 1264 2005-02-22 2017-02-21 2017-02-21 23529 ENSG00000175505 OTTHUMG00000167669 uc001okq.4 BC012939 NM_013246 "CCDS31617|CCDS53666" Q9UBD9 "10500198|10448081|16782820" MGI:1930088 RGD:1303171 607672 159242 ligandId:4895 HGNC:17412 "ENST00000312438.8|NM_013246.3" HGNC:17412 +HGNC:2019 CLCN1 chloride voltage-gated channel 1 protein-coding gene gene with protein product Approved 7q34 07q34 "CLC1|ClC-1" Thomsen disease, autosomal dominant "chloride channel 1, skeletal muscle|chloride channel, voltage-sensitive 1" Chloride voltage-gated channels 302 1992-10-13 2016-02-04 2020-04-02 1180 ENSG00000188037 OTTHUMG00000152695 uc003wcr.2 Z25884 NM_000083 CCDS5881 P35523 1379744 MGI:88417 RGD:2360 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLCN1 118425 119447 objectId:698 HGNC:2019 "ENST00000343257.7|NM_000083.3" HGNC:2019 +HGNC:2020 CLCN2 chloride voltage-gated channel 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "CLC2|EJM6|ClC-2" "chloride channel 2|chloride channel, voltage-sensitive 2" Chloride voltage-gated channels 302 1994-01-28 2016-02-04 2016-02-04 1181 ENSG00000114859 OTTHUMG00000156747 uc003foi.4 S77770 NM_001171087 "CCDS54690|CCDS54692|CCDS3263|CCDS54691" P51788 7795595 MGI:105061 RGD:2361 600570 226047 objectId:699 HGNC:2020 "ENST00000265593.9|NM_004366.6" HGNC:2020 +HGNC:2021 CLCN3 chloride voltage-gated channel 3 protein-coding gene gene with protein product Approved 4q33 04q33 "CLC3|ClC-3" "chloride channel 3|chloride channel, voltage-sensitive 3" Chloride voltage-gated channels 302 1994-01-28 2016-02-04 2016-02-04 1182 ENSG00000109572 OTTHUMG00000160973 uc003ish.4 X78520 NM_001243372 "CCDS58932|CCDS34100|CCDS34101|CCDS75208" P51790 MGI:103555 RGD:621219 600580 objectId:702 HGNC:2021 "ENST00000513761.6|NM_001829.4" +HGNC:49775 CLCN3P1 chloride voltage-gated channel 3 pseudogene 1 pseudogene pseudogene Approved 9p22.3 09p22.3 chloride channel, voltage-sensitive 3 pseudogene 1 2014-02-14 2016-02-04 2016-02-04 100419056 ENSG00000232000 OTTHUMG00000019579 NG_023786 PGOHUM00000235971 HGNC:49775 +HGNC:2022 CLCN4 chloride voltage-gated channel 4 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "CLC4|ClC-4" "chloride channel 4|chloride channel, voltage-sensitive 4" Chloride voltage-gated channels 302 1994-01-28 2016-02-04 2020-04-02 1183 ENSG00000073464 OTTHUMG00000021125 uc004csy.5 X77197 NM_001256944 "CCDS59159|CCDS14137" P51793 "8069296|16034422|16034421" MGI:104571 RGD:708381 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLCN4 302910 461754 objectId:703 HGNC:2022 "ENST00000380833.9|NM_001830.4" HGNC:2022 +HGNC:2023 CLCN5 chloride voltage-gated channel 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "DENTS|XLRH|hClC-K2|hCIC-K2|CLC5|XRN|ClC-5" Dent disease "NPHL2|NPHL1" "nephrolithiasis 2, X-linked|nephrolithiasis 1 (X-linked)|chloride channel 5|chloride channel, voltage-sensitive 5" "Chloride voltage-gated channels|MicroRNA protein coding host genes" "302|1691" 1994-01-28 2016-02-04 2020-04-02 1184 ENSG00000171365 OTTHUMG00000021514 uc004dos.2 X91906 NM_000084 "CCDS69763|CCDS14328|CCDS48115" P51795 "7874126|8111383|8099916|8559248|9602200" MGI:99486 RGD:2362 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLCN5 300008 119453 objectId:704 HGNC:2023 "ENST00000376091.8|NM_001127898.4" HGNC:2023 +HGNC:2024 CLCN6 chloride voltage-gated channel 6 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "CLC-6|KIAA0046|ClC-6" "chloride channel 6|chloride channel, voltage-sensitive 6" Chloride voltage-gated channels 302 1997-04-21 2016-02-04 2016-02-04 1185 ENSG00000011021 OTTHUMG00000002299 uc001ate.6 X83378 NM_001286 "CCDS138|CCDS57972" P51797 8543009 MGI:1347049 RGD:1305379 Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/ 602726 objectId:705 HGNC:2024 "ENST00000346436.11|NM_001286.5" +HGNC:2025 CLCN7 chloride voltage-gated channel 7 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CLC-7|OPTA2|CLC7|ClC-7|PPP1R63" protein phosphatase 1, regulatory subunit 63 "chloride channel 7|chloride channel, voltage-sensitive 7" "Chloride voltage-gated channels|Protein phosphatase 1 regulatory subunits" "302|694" 1997-04-21 2016-02-04 2016-05-06 1186 ENSG00000103249 OTTHUMG00000044467 uc002clv.4 Z67743 NM_001287 "CCDS45378|CCDS32361" P51798 8543009 MGI:1347048 RGD:61836 602727 119462 objectId:706 HGNC:2025 "ENST00000382745.9|NM_001287.6" HGNC:2025 +HGNC:2026 CLCNKA chloride voltage-gated channel Ka protein-coding gene gene with protein product Approved 1p36.13 01p36.13 hClC-Ka "chloride channel Ka|chloride channel, voltage-sensitive Ka" Chloride voltage-gated channels 302 1995-12-11 2016-02-04 2016-02-04 1187 ENSG00000186510 OTTHUMG00000009529 uc001axu.4 NM_001042704 "CCDS167|CCDS57973|CCDS41269" P51800 8544406 "MGI:1329026|MGI:1930643" RGD:68435 602024 159370 objectId:700 HGNC:2026 "ENST00000331433.5|NM_004070.4" HGNC:2026 +HGNC:2027 CLCNKB chloride voltage-gated channel Kb protein-coding gene gene with protein product Approved 1p36.13 01p36.13 hClC-Kb "chloride channel Kb|chloride channel, voltage-sensitive Kb" Chloride voltage-gated channels 302 1995-12-11 2016-02-04 2016-02-04 1188 ENSG00000184908 OTTHUMG00000009530 uc001axx.6 AK098217 NM_000085 "CCDS57974|CCDS168" P51801 "MGI:1329026|MGI:1930643" RGD:628639 602023 119467 objectId:701 HGNC:2027 "ENST00000375679.9|NM_000085.5" HGNC:2027 +HGNC:19257 CLCP1 Charcot-Leyden crystal protein pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 2002-09-18 2016-07-22 266626 ENSG00000232305 OTTHUMG00000155638 NG_002369 PGOHUM00000297444 HGNC:19257 +HGNC:42536 CLCP2 Charcot-Leyden crystal protein pseudogene 2 pseudogene pseudogene Approved 13q34 13q34 LGALS10P1 2011-08-04 2011-08-04 2016-07-22 100128145 ENSG00000226158 OTTHUMG00000017401 BK006815 NG_011415 PGOHUM00000292247 HGNC:42536 +HGNC:2032 CLDN1 claudin 1 protein-coding gene gene with protein product Approved 3q28 03q28 "SEMP1|ILVASC" senescence-associated epithelial membrane protein 1 Claudins 488 1998-11-19 2021-05-26 9076 ENSG00000163347 OTTHUMG00000156214 uc003fsh.4 AF101051 NM_021101 CCDS3295 O95832 "10828592|9892664" MGI:1276109 RGD:68422 603718 119470 HGNC:2032 "ENST00000295522.4|NM_021101.5" HGNC:2032 +HGNC:2041 CLDN2 claudin 2 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 Claudins 488 1998-11-19 2020-04-02 9075 ENSG00000165376 OTTHUMG00000022154 uc004emq.2 AK075405 NM_001171092 CCDS14524 P57739 9892664 MGI:1276110 RGD:1560247 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLDN2 300520 HGNC:2041 "ENST00000336803.2|NM_020384.4" HGNC:2041 +HGNC:2045 CLDN3 claudin 3 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "RVP1|CPE-R2|HRVP1" "Clostridium perfringens enterotoxin receptor 2|ventral prostate.1-like protein|claudin-3|CPE-receptor 2" "C7orf1|CPETR2" Claudins 488 1998-07-23 2016-10-05 1365 ENSG00000165215 OTTHUMG00000023424 uc003tzg.4 AF007189 NM_001306 CCDS5559 O15551 "9441748|9892664" MGI:1329044 RGD:68425 602910 HGNC:2045 "ENST00000395145.3|NM_001306.4" +HGNC:2046 CLDN4 claudin 4 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "CPE-R|WBSCR8|hCPE-R" "Clostridium perfringens enterotoxin receptor 1|Williams-Beuren syndrome chromosomal region 8 protein" "CPETR|CPETR1" Claudins 488 1998-04-22 2015-09-11 1364 ENSG00000189143 OTTHUMG00000023425 uc003tzh.2 AB000712 NM_001305 CCDS5560 O14493 "9334247|9892664" MGI:1313314 RGD:1307932 602909 HGNC:2046 "ENST00000340958.4|NM_001305.5" +HGNC:2047 CLDN5 claudin 5 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "CPETRL1|BEC1" "AWAL|TMVCF" transmembrane protein deleted in velocardiofacial syndrome Claudins 488 1997-03-19 2008-08-01 2014-11-18 7122 ENSG00000184113 OTTHUMG00000150441 uc062bmp.1 AF000959 NM_003277 CCDS13763 O00501 "9441748|9192844" MGI:1276112 RGD:68431 602101 HGNC:2047 "ENST00000618236.2|NM_001363066.2" +HGNC:2048 CLDN6 claudin 6 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Claudins 488 1998-11-19 2015-09-11 9074 ENSG00000184697 OTTHUMG00000128999 uc002csu.5 AJ249735 NM_021195 CCDS10488 P56747 "9892664|18234789" MGI:1859284 RGD:1308837 615798 HGNC:2048 "ENST00000328796.5|NM_021195.5" +HGNC:2049 CLDN7 claudin 7 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 Hs.84359 "CEPTRL2|CPETRL2" Claudins 488 1998-11-19 2015-09-11 1366 ENSG00000181885 OTTHUMG00000178005 uc002gfn.5 AJ011497 NM_001307 "CCDS11096|CCDS54081" O95471 9892664 MGI:1859285 RGD:68432 609131 HGNC:2049 "ENST00000360325.11|NM_001307.6" +HGNC:54935 CLDN7P1 CLDN7 pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-29 2020-04-29 100129851 ENSG00000214031 NG_022591 +HGNC:2050 CLDN8 claudin 8 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 Claudins 488 1998-11-19 2016-10-05 9073 ENSG00000156284 OTTHUMG00000081872 uc002ynu.3 AJ250711 NM_199328 CCDS13587 P56748 9892664 MGI:1859286 RGD:1308575 611231 HGNC:2050 "ENST00000399899.2|NM_199328.3" +HGNC:2051 CLDN9 claudin 9 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Claudins 488 1998-07-23 2015-09-11 9080 ENSG00000213937 OTTHUMG00000129000 uc010uwo.1 AJ130941 NM_020982 CCDS10487 O95484 "9441748|18234789" MGI:1913100 RGD:1308999 615799 HGNC:2051 "ENST00000445369.3|NM_020982.4" +HGNC:2033 CLDN10 claudin 10 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "OSP-L|CPETRL3" Claudins 488 1999-01-22 2021-05-26 9071 ENSG00000134873 OTTHUMG00000017217 uc001vmh.3 U89916 NM_006984 "CCDS9476|CCDS9475" P78369 18025272 MGI:1913101 RGD:1308027 617579 HGNC:2033 "ENST00000299339.3|NM_006984.5" HGNC:2033 +HGNC:39907 CLDN10-AS1 CLDN10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.1 13q32.1 CLDN10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874194 ENSG00000223392 OTTHUMG00000017220 uc031qmx.1 NR_046533 CLDN10-AS1 HGNC:39907 +HGNC:8514 CLDN11 claudin 11 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 OSP OTM oligodendrocyte transmembrane protein "Claudins|MicroRNA protein coding host genes" "488|1691" 1996-09-13 2008-08-01 2016-10-05 5010 ENSG00000013297 OTTHUMG00000158940 uc003fgx.4 AF068863 NM_005602 CCDS3213 O75508 "8661061|8797478" MGI:106925 RGD:71081 601326 HGNC:8514 "ENST00000064724.8|NM_005602.6" HGNC:8514 +HGNC:2034 CLDN12 claudin 12 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 Claudins 488 1998-12-11 2016-10-05 9069 ENSG00000157224 OTTHUMG00000156612 uc003ukr.4 AJ250713 NM_012129 CCDS5618 P56749 MGI:1929288 RGD:1561053 611232 HGNC:2034 "ENST00000496677.6|NM_001185072.3" +HGNC:2035 CLDN14 claudin 14 protein-coding gene gene with protein product Approved 21q22.13 21q22.13 DFNB29 Claudins 488 1999-11-26 2021-05-26 23562 ENSG00000159261 OTTHUMG00000086638 uc002yvo.2 AJ132445 NM_144492 CCDS13645 O95500 11163249 MGI:1860425 RGD:1309165 Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org 605608 166812 HGNC:2035 "ENST00000399135.6|NM_001146079.2" HGNC:2035 +HGNC:55953 CLDN14-AS1 CLDN14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 Antisense RNAs 1987 2021-11-10 2021-11-10 105369301 ENSG00000233818 XR_001755025 +HGNC:2036 CLDN15 claudin 15 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Claudins 488 1999-11-26 2016-10-05 24146 ENSG00000106404 OTTHUMG00000150512 uc003uyh.2 AJ245738 NM_014343 CCDS5717 P56746 MGI:1913103 RGD:1310678 615778 HGNC:2036 "ENST00000308344.10|NM_014343.3" +HGNC:2037 CLDN16 claudin 16 protein-coding gene gene with protein product Approved 3q28 03q28 "PCLN1|HOMG3" "paracellin-1|hypomagnesemia 3, with hypercalciuria and nephrocalcinosis" Claudins 488 2000-01-07 2021-05-26 10686 ENSG00000113946 OTTHUMG00000156215 uc003fsi.3 AF152101 NM_006580 CCDS3296 Q9Y5I7 10390358 MGI:2148742 RGD:620322 603959 120625 HGNC:2037 "ENST00000264734.3|NM_006580.4" HGNC:2037 +HGNC:2038 CLDN17 claudin 17 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "MGC126552|MGC126554" Claudins 488 1999-11-19 2016-10-05 26285 ENSG00000156282 OTTHUMG00000081873 uc011acv.3 AJ250712 NM_012131 CCDS13586 P56750 12736707 MGI:2652030 RGD:1307462 617005 HGNC:2038 "ENST00000286808.5|NM_012131.3" +HGNC:2039 CLDN18 claudin 18 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 SFTPJ surfactant associated protein J Claudins 488 2000-01-31 2014-11-19 51208 ENSG00000066405 OTTHUMG00000159762 uc003erp.2 "AF221069|AY102073" NM_001002026 "CCDS3095|CCDS33862" P56856 MGI:1929209 RGD:1359696 609210 objectId:2903 HGNC:2039 "ENST00000183605.10|NM_016369.4" +HGNC:2040 CLDN19 claudin 19 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Claudins 488 2000-03-15 2021-05-26 149461 ENSG00000164007 OTTHUMG00000007524 uc001chu.3 AK096063 NM_148960 "CCDS44125|CCDS471|CCDS53306" Q8N6F1 MGI:3033992 RGD:1305000 610036 120628 HGNC:2040 "ENST00000296387.6|NM_148960.3" HGNC:2040 +HGNC:2042 CLDN20 claudin 20 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 Claudins 488 2000-03-15 2016-10-05 49861 ENSG00000171217 OTTHUMG00000015882 uc003qql.2 BC020838 NM_001001346 CCDS5249 P56880 16836752 MGI:3646757 RGD:1595446 HGNC:2042 "ENST00000367165.3|NM_001001346.3" +HGNC:2044 CLDN22 claudin 22 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 CLDN21 Claudins 488 2000-05-19 2015-08-28 53842 ENSG00000177300 OTTHUMG00000160627 uc010isa.2 AK098064 NM_001111319 CCDS43286 Q8N7P3 MGI:1922927 RGD:1305271 HGNC:2044 "ENST00000323319.7|NM_001111319.3" +HGNC:17591 CLDN23 claudin 23 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 CLDNL Claudins 488 2004-06-14 2016-10-25 137075 ENSG00000253958 OTTHUMG00000163674 uc003wsi.4 AK123547 NM_194284 CCDS55195 Q96B33 12736707 MGI:1919158 RGD:1309001 609203 HGNC:17591 "ENST00000519106.2|NM_194284.3" +HGNC:37200 CLDN24 claudin 24 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 CLDN21 claudin 21 Claudins 488 2009-09-22 2018-11-15 100132463 ENSG00000185758 OTTHUMG00000160628 uc021xva.1 NM_001185149 CCDS54824 A6NM45 12736707 MGI:3712484 RGD:1562043 HGNC:37200 "ENST00000541814.1|NM_001185149.1" +HGNC:37218 CLDN25 claudin 25 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 Claudins 488 2009-09-22 2009-09-22 644672 ENSG00000228607 OTTHUMG00000168193 uc009yyw.2 NM_001101389 CCDS44736 C9JDP6 MGI:3642767 RGD:2322263 HGNC:37218 +HGNC:51259 CLDN34 claudin 34 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 2015-03-18 2016-10-17 100288814 ENSG00000234469 OTTHUMG00000189259 NM_001195081 CCDS75951 H7C241 23726886 "MGI:1920311|MGI:1920597|MGI:1921184|MGI:1922237|MGI:3588232|MGI:3648293|MGI:3648403|MGI:3779684" RGD:1594343 HGNC:51259 "ENST00000445307.4|NM_001195081.2" +HGNC:1322 CLDND1 claudin domain containing 1 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 Z38 C3orf4 chromosome 3 open reading frame 4 2000-08-11 2005-12-23 2005-12-23 2020-09-17 56650 ENSG00000080822 OTTHUMG00000160050 uc003dss.4 AF116664 NM_019895 "CCDS2930|CCDS46877|CCDS43116" Q9NY35 28247935 MGI:2447860 RGD:1359273 619677 HGNC:1322 "ENST00000341181.11|NM_001040181.2" +HGNC:28511 CLDND2 claudin domain containing 2 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 MGC33839 2006-03-31 2020-01-06 125875 ENSG00000160318 OTTHUMG00000182901 uc002pwi.1 BC029518 NM_152353 CCDS12829 Q8NHS1 12477932 MGI:1921526 RGD:1566413 HGNC:28511 "ENST00000291715.5|NM_152353.3" +HGNC:24355 CLEC1A C-type lectin domain family 1 member A protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "CLEC1|CLEC-1|MGC34328" C-type lectin domain family 1, member A C-type lectin domain containing 1298 2005-02-09 2016-03-08 2021-04-26 51267 ENSG00000150048 OTTHUMG00000168504 uc001qxb.4 AY358587 NM_016511 "CCDS73443|CCDS8612|CCDS76528" Q8NC01 "10671229|11745369" MGI:2444151 RGD:1566110 606782 HGNC:24355 "ENST00000315330.8|NM_016511.4" +HGNC:24356 CLEC1B C-type lectin domain family 1 member B protein-coding gene gene with protein product Approved 12p13.31-p13.2 12p13.31-p13.2 "CLEC2|CLEC-2" C-type lectin domain family 1, member B C-type lectin domain containing 1298 2005-02-09 2015-12-16 2021-04-26 51266 ENSG00000165682 OTTHUMG00000168502 uc001qwu.5 AF124841 NM_016509 "CCDS41751|CCDS41752" Q9P126 "10671229|11745369" MGI:1913287 RGD:1563517 606783 HGNC:24356 "ENST00000298527.11|NM_016509.4" +HGNC:24191 CLEC2A C-type lectin domain family 2 member A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "UNQ5792|INPE5792|KACL|PILAR" "keratinocyte-associated C-type lectin|proliferation-induced lymphocyte-associated receptor" C-type lectin domain family 2, member A C-type lectin domain containing 1298 2005-02-09 2015-12-16 2015-12-16 387836 ENSG00000188393 OTTHUMG00000140393 uc009zhc.2 AY359126 NM_207375 "CCDS8606|CCDS44829" Q6UVW9 12975309 612087 HGNC:24191 "ENST00000455827.2|NM_001130711.2" +HGNC:2053 CLEC2B C-type lectin domain family 2 member B protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "AICL|HP10085" CLECSF2 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)|C-type lectin domain family 2, member B" C-type lectin domain containing 1298 1999-05-07 2005-02-09 2015-12-16 2016-10-05 9976 ENSG00000110852 OTTHUMG00000168483 uc001qwn.4 X96719 NM_005127 CCDS8605 Q92478 9038101 603242 HGNC:2053 "ENST00000228438.3|NM_005127.3" +HGNC:14351 CLEC2D C-type lectin domain family 2 member D protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "LLT1|CLAX|OCIL" "C-type lectin related f|lectin-like transcript 1" "C-type lectin superfamily 2, member D|C-type lectin domain family 2, member D" C-type lectin domain containing 1298 2005-02-09 2015-12-16 2015-12-16 29121 ENSG00000069493 OTTHUMG00000168369 uc001qwg.4 AF133299 NM_013269 "CCDS55802|CCDS8602|CCDS31741|CCDS55800|CCDS55801" Q9UHP7 "MGI:1918059|MGI:2135589|MGI:2136650|MGI:2136934|MGI:3028921|MGI:3522133" RGD:620070 605659 HGNC:14351 "ENST00000290855.11|NM_013269.6" +HGNC:21969 CLEC2L C-type lectin domain family 2 member L protein-coding gene gene with protein product Approved 7q34 07q34 FLJ32986 C-type lectin domain family 2, member L C-type lectin domain containing 1298 2005-02-09 2015-12-16 2015-12-16 154790 ENSG00000236279 OTTHUMG00000164900 uc010lnd.4 AK057548 NM_001080511 CCDS47724 P0C7M8 MGI:2141402 RGD:1565373 HGNC:21969 "ENST00000422142.7|NM_001080511.4" +HGNC:2052 CLEC3A C-type lectin domain family 3 member A protein-coding gene gene with protein product Approved 16q23.1 16q23.1 CLECSF1 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)|C-type lectin domain family 3, member A" C-type lectin domain containing 1298 1998-10-12 2005-02-11 2015-12-16 2016-10-05 10143 ENSG00000166509 OTTHUMG00000137620 uc002ffh.6 AF077345 NM_005752 CCDS10927 O75596 10524194 MGI:2685642 RGD:1306295 613588 HGNC:2052 "ENST00000299642.10|NM_005752.6" +HGNC:11891 CLEC3B C-type lectin domain family 3 member B protein-coding gene gene with protein product Approved 3p21.31 03p21.31 TN TNA "tetranectin (plasminogen binding protein)|C-type lectin domain family 3, member B" C-type lectin domain containing 1298 1993-08-26 2005-02-09 2015-12-16 2016-10-05 7123 ENSG00000163815 OTTHUMG00000133087 uc003cok.5 NM_003278 "CCDS77730|CCDS2726" P05452 MGI:104540 RGD:1311031 187520 HGNC:11891 "ENST00000296130.5|NM_003278.3" +HGNC:13257 CLEC4A C-type lectin domain family 4 member A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "DCIR|DDB27|CD367|hDCIR" CLECSF6 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6|C-type lectin domain family 4, member A" "CD molecules|C-type lectin domain containing" "471|1298" 2001-02-01 2005-02-09 2015-12-16 2021-04-26 50856 ENSG00000111729 OTTHUMG00000168571 uc001qtz.1 AJ133532 NM_194450 "CCDS8591|CCDS8590|CCDS8592|CCDS41745" Q9UMR7 10438934 "MGI:1349412|MGI:1917060|MGI:1920399|MGI:3036291|MGI:3624119" RGD:1359528 605306 objectId:2931 HGNC:13257 "ENST00000229332.12|NM_016184.4" +HGNC:13258 CLEC4C C-type lectin domain family 4 member C protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HECL|DLEC|BDCA2|CD303" "CLECSF11|CLECSF7" "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7|C-type lectin domain family 4, member C" "CD molecules|C-type lectin domain containing" "471|1298" 2000-12-21 2005-02-11 2015-12-16 2016-10-05 170482 ENSG00000198178 OTTHUMG00000168441 uc001qth.1 AF325460 NM_203503 "CCDS8584|CCDS8583" Q8WTT0 "11031109|11536172" MGI:1917060 RGD:1359354 606677 objectId:3135 CD303 HGNC:13258 "ENST00000360345.8|NM_001371390.1" HGNC:13258 +HGNC:14554 CLEC4D C-type lectin domain family 4 member D protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "Mpcl|CD368|MCL|Dectin-3" Dectin 3 CLECSF8 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8|C-type lectin domain family 4, member D" "CD molecules|C-type lectin domain containing" "471|1298" 2004-10-20 2005-02-11 2015-12-16 2020-01-06 338339 ENSG00000166527 OTTHUMG00000168674 uc001qun.4 AF411850 NM_080387 CCDS8593 Q8WXI8 MGI:1298389 RGD:1303339 609964 HGNC:14554 "ENST00000299665.3|NM_080387.5" +HGNC:14555 CLEC4E C-type lectin domain family 4 member E protein-coding gene gene with protein product Approved 12p13.31 12p13.31 MINCLE Macrophage-inducible C-type lectin CLECSF9 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9|C-type lectin domain family 4, member E" C-type lectin domain containing 1298 2001-02-01 2005-02-09 2015-12-16 2021-04-26 26253 ENSG00000166523 OTTHUMG00000168675 uc001quo.2 AB024718 NM_014358 CCDS8594 Q9ULY5 10528209 MGI:1861232 RGD:1359298 609962 objectId:2929 HGNC:14555 "ENST00000299663.8|NM_014358.4" +HGNC:25357 CLEC4F C-type lectin domain family 4 member F protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "FLJ39110|KCLR" CLECSF13 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13|C-type lectin domain family 4, member F" C-type lectin domain containing 1298 2004-02-16 2005-02-11 2015-12-16 2015-12-16 165530 ENSG00000152672 OTTHUMG00000129713 uc002shf.4 AK096429 NM_173535 "CCDS82464|CCDS1910" Q8N1N0 "8889548|1846367" MGI:1859834 RGD:621062 HGNC:25357 "ENST00000272367.7|NM_173535.3" +HGNC:24591 CLEC4G C-type lectin domain family 4 member G protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "UNQ431|LSECTIN" "C-type lectin superfamily 4, member G|C-type lectin domain family 4, member G" C-type lectin domain containing 1298 2005-02-09 2015-12-16 2021-04-26 339390 ENSG00000182566 OTTHUMG00000182519 uc002mhp.4 AY358431 NM_198492 CCDS12185 Q6UXB4 12975309 MGI:1923113 RGD:1597482 616256 HGNC:24591 "ENST00000328853.11|NM_198492.4" +HGNC:33502 CLEC4GP1 C-type lectin domain family 4 member G pseudogene 1 pseudogene pseudogene Approved 19p13.2 19p13.2 C-type lectin domain family 4, member G pseudogene 1 2007-06-21 2015-12-16 2015-12-16 440508 ENSG00000268297 OTTHUMG00000182531 BC047593 NR_002931 PGOHUM00000295177 HGNC:33502 +HGNC:13523 CLEC4M C-type lectin domain family 4 member M protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HP10347|DC-SIGNR|LSIGN|DCSIGNR|DC-SIGN2" "CD209L|CD299" "CD299 antigen|C-type lectin domain family 4, member M" CD molecules 471 2000-09-19 2005-02-11 2015-12-16 2016-10-05 10332 ENSG00000104938 OTTHUMG00000182432 uc010dvt.3 AB015629 NM_014257 "CCDS59348|CCDS12187|CCDS59347|CCDS59346" Q9H2X3 10072769 "MGI:1916415|MGI:1917442" RGD:1561466 605872 CD299 HGNC:13523 "ENST00000327325.10|NM_014257.5" +HGNC:52651 CLEC4OP C-type lectin domain family 4 member O, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 "LINC01835|CLEC4O" "long intergenic non-protein coding RNA 1835|C-type lectin domain family 4 member O" 2016-11-24 2021-03-08 2021-03-08 2021-03-08 102724279 ENSG00000267453 OTTHUMG00000182288 NR_171052 HGNC:52651 +HGNC:2054 CLEC5A C-type lectin domain containing 5A protein-coding gene gene with protein product Approved 7q34 07q34 MDL-1 CLECSF5 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5|C-type lectin domain family 5, member A|C-type lectin domain family 5 member A" C-type lectin domain containing 1298 1999-10-19 2005-02-09 2017-03-23 2017-03-23 23601 ENSG00000258227 OTTHUMG00000157173 uc003vwv.1 NM_013252 "CCDS75670|CCDS5870" Q9NY25 10449773 MGI:1345151 RGD:1584755 604987 HGNC:2054 "ENST00000546910.6|NM_013252.3" +HGNC:14556 CLEC6A C-type lectin domain containing 6A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "dectin-2|hDECTIN-2" CLECSF10 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10|C-type lectin domain family 6, member A|C-type lectin domain family 6 member A" C-type lectin domain containing 1298 2004-11-18 2005-02-11 2017-03-23 2021-04-26 93978 ENSG00000205846 OTTHUMG00000168672 uc001qum.2 AY321309 NM_001007033 CCDS31739 Q6EIG7 MGI:1861231 613579 objectId:2928 HGNC:14556 "ENST00000382073.4|NM_001007033.2" +HGNC:14558 CLEC7A C-type lectin domain containing 7A protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "DECTIN-1|hDectin-1|CD369|SCARE2" CLECSF12 "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12|C-type lectin domain family 7, member A|C-type lectin domain family 7 member A" "CD molecules|Scavenger receptors|C-type lectin domain containing" "471|1253|1298" 2001-02-01 2005-02-09 2017-03-23 2021-04-26 64581 ENSG00000172243 OTTHUMG00000133597 uc001qxf.4 AY009090 NM_197954 "CCDS41753|CCDS41754|CCDS8613|CCDS53744|CCDS8614|CCDS8617" Q9BXN2 MGI:1861431 RGD:1565140 LRG_179|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_179.xml 606264 225288 objectId:2927 HGNC:14558 "ENST00000304084.13|NM_197947.3" HGNC:14558 +HGNC:26705 CLEC9A C-type lectin domain containing 9A protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "UNQ9341|HEEE9341|CD370|DNGR-1" "C-type lectin domain family 9, member A|C-type lectin domain family 9 member A" "CD molecules|C-type lectin domain containing" "471|1298" 2005-02-09 2017-03-23 2017-03-23 283420 ENSG00000197992 OTTHUMG00000168398 uc001qxa.4 NM_207345 CCDS8611 Q6UXN8 MGI:2444608 RGD:1562513 612252 HGNC:26705 "ENST00000355819.6|NM_207345.4" +HGNC:16916 CLEC10A C-type lectin domain containing 10A protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "HML2|HML|CD301" macrophage lectin 2 (calcium dependent) "CLECSF13|CLECSF14" "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)|C-type lectin domain family 10, member A|C-type lectin domain family 10 member A" "CD molecules|C-type lectin domain containing" "471|1298" 2003-08-06 2005-02-11 2017-03-23 2017-03-23 10462 ENSG00000132514 OTTHUMG00000177939 uc002gej.4 D50532 NM_006344 "CCDS82049|CCDS45597|CCDS11087" Q8IUN9 8598452 "MGI:96975|MGI:2385729" RGD:621158 605999 CD301 HGNC:16916 "ENST00000416562.7|NM_001330070.2" +HGNC:10576 CLEC11A C-type lectin domain containing 11A protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "P47|LSLCL|CLECSF3" SCGF "stem cell growth factor; lymphocyte secreted C-type lectin|C-type lectin domain family 11, member A|C-type lectin domain family 11 member A" C-type lectin domain containing 1298 1997-10-30 2005-02-11 2017-03-23 2017-03-23 6320 ENSG00000105472 OTTHUMG00000182866 uc002psy.4 AF087658 NM_002975 CCDS12800 Q9Y240 "9207134|9442024" MGI:1298219 RGD:3627 604713 HGNC:10576 "ENST00000250340.9|NM_002975.3" +HGNC:31713 CLEC12A C-type lectin domain family 12 member A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CLL-1|MICL|CD371|DCAL-2" "dendritic cell-associated lectin 2|myeloid inhibitory C-type lectin-like receptor" C-type lectin domain family 12, member A "CD molecules|C-type lectin domain containing" "471|1298" 2005-02-09 2017-03-23 2017-03-28 160364 ENSG00000172322 OTTHUMG00000168396 uc001qwq.3 AY498550 NM_138337 "CCDS8609|CCDS8608|CCDS55803|CCDS73442" Q5QGZ9 MGI:3040968 RGD:1592991 612088 objectId:3081 HGNC:31713 "ENST00000304361.9|NM_138337.6" +HGNC:53407 CLEC12A-AS1 CLEC12A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 Antisense RNAs 1987 2017-03-28 2017-03-28 400002 ENSG00000231560 OTTHUMG00000150192 NR_135047 HGNC:53407 +HGNC:31966 CLEC12B C-type lectin domain family 12 member B protein-coding gene gene with protein product Approved 12p13.2 12p13.2 C-type lectin domain family 12, member B C-type lectin domain containing 1298 2007-07-27 2015-12-16 2015-12-16 387837 ENSG00000256660 OTTHUMG00000168397 uc001qwz.3 AK128243 NM_205852 "CCDS44830|CCDS8610" Q2HXU8 17562706 MGI:1918433 RGD:1560487 617573 HGNC:31966 "ENST00000338896.11|NM_001129998.3" +HGNC:19832 CLEC14A C-type lectin domain containing 14A protein-coding gene gene with protein product Approved 14q21.1 14q21.1 C14orf27 "chromosome 14 open reading frame 27|C-type lectin domain family 14, member A|C-type lectin domain family 14 member A" C-type lectin domain containing 1298 2003-01-13 2005-02-11 2017-03-23 2017-03-23 161198 ENSG00000176435 OTTHUMG00000140248 uc001wum.3 NM_175060 CCDS9667 Q86T13 MGI:1914114 RGD:1306232 616845 HGNC:19832 "ENST00000342213.3|NM_175060.3" +HGNC:29013 CLEC16A C-type lectin domain containing 16A protein-coding gene gene with protein product Approved 16p13.13 16p13.13 Gop-1 KIAA0350 "KIAA0350|C-type lectin domain family 16, member A|C-type lectin domain family 16 member A" C-type lectin domain containing 1298 2006-08-25 2007-07-17 2017-03-23 2017-03-23 23274 ENSG00000038532 OTTHUMG00000152915 uc059qub.1 AB002348 NM_015226 "CCDS45409|CCDS58423" Q2KHT3 "9205841|17632545" MGI:1921624 RGD:1305773 611303 HGNC:29013 "ENST00000409790.6|NM_015226.3" HGNC:29013 +HGNC:34520 CLEC17A C-type lectin domain containing 17A protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ45910 prolectin "C-type lectin domain family 17, member A|C-type lectin domain family 17 member A" C-type lectin domain containing 1298 2008-08-15 2017-03-23 2017-03-23 388512 ENSG00000187912 OTTHUMG00000169312 uc010dzn.3 AK127809 NM_207390 "CCDS46002|CCDS56087" Q6ZS10 19419970 616838 HGNC:34520 "ENST00000417570.6|NM_001204118.2" +HGNC:30388 CLEC18A C-type lectin domain family 18 member A protein-coding gene gene with protein product Approved 16q22.1 16q22.1 MRCL "mannose receptor-like|C-type lectin domain family 18, member A" "C-type lectin domain containing|CAP and C-type lectin domain containing" "1298|1487" 2009-03-06 2009-03-10 2015-12-16 2020-01-06 348174 ENSG00000157322 OTTHUMG00000137574 uc010vlo.3 AF428259 NM_182619 CCDS10886 A5D8T8 "12975309|26170455" MGI:2672935 RGD:1559899 616571 HGNC:30388 "ENST00000288040.11|NM_001370523.4" +HGNC:33849 CLEC18B C-type lectin domain family 18 member B protein-coding gene gene with protein product Approved 16q23.1 16q23.1 MRCL2 "mannose receptor-like 2|C-type lectin domain family 18, member B" "C-type lectin domain containing|CAP and C-type lectin domain containing" "1298|1487" 2009-03-06 2009-03-10 2015-12-16 2017-03-10 497190 ENSG00000140839 OTTHUMG00000176998 uc002fct.4 AY358373 NM_001011880 CCDS32484 Q6UXF7 MGI:2672935 616572 HGNC:33849 "ENST00000682950.1|NM_001385193.1" +HGNC:28538 CLEC18C C-type lectin domain family 18 member C protein-coding gene gene with protein product Approved 16q22.1 16q22.1 MGC34761 MRCL3 "mannose receptor-like 3|C-type lectin domain family 18, member C" "C-type lectin domain containing|CAP and C-type lectin domain containing" "1298|1487" 2009-03-06 2009-03-10 2015-12-16 2020-01-06 283971 ENSG00000157335 OTTHUMG00000176982 uc059wnv.1 AL833339 NM_173619 CCDS32473 Q8NCF0 26170455 MGI:2672935 616573 HGNC:28538 "ENST00000541793.7|NM_173619.4" +HGNC:34522 CLEC19A C-type lectin domain containing 19A protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "C-type lectin domain family 19, member A|C-type lectin domain family 19 member A" C-type lectin domain containing 1298 2009-07-20 2017-03-23 2020-04-20 728276 ENSG00000261210 OTTHUMG00000177218 uc002dga.6 NM_001256720 CCDS81953 Q6UXS0 RGD:6503302 HGNC:34522 "ENST00000636231.2|NM_001256720.2" +HGNC:34521 CLEC20A C-type lectin domain containing 20A protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "FLJ44005|RP4-593C16.2" "NCRNA00083|LINC00083" "non-protein coding RNA 83|long intergenic non-protein coding RNA 83|C-type lectin domain family 20 member A" C-type lectin domain containing 1298 2008-09-02 2017-01-19 2017-03-23 2017-03-23 400797 ENSG00000188585 OTTHUMG00000035021 uc057nok.1 AK125993 NM_001395331 Q6ZU45 RGD:7603387 HGNC:34521 +HGNC:24462 CLECL1 C-type lectin like 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 DCAL1 dendritic cell associated lectin 1 C-type lectin-like 1 2007-06-21 2015-12-16 2017-03-23 160365 ENSG00000184293 OTTHUMG00000168459 uc001qwj.4 AF518873 NM_172004 "CCDS73441|CCDS8603" Q8IZS7 12421943 607467 HGNC:24462 +HGNC:2060 CLGN calmegin protein-coding gene gene with protein product Approved 4q31.1 04q31.1 1997-01-14 2016-10-05 1047 ENSG00000153132 OTTHUMG00000133414 uc003iii.4 D86322 NM_004362 CCDS3751 O14967 MGI:107472 RGD:1592643 601858 HGNC:2060 "ENST00000325617.10|NM_004362.3" +HGNC:26453 CLHC1 clathrin heavy chain linker domain containing 1 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 FLJ31438 C2orf63 chromosome 2 open reading frame 63 2007-12-07 2012-08-03 2012-08-03 2014-11-19 130162 ENSG00000162994 OTTHUMG00000151918 uc002ryj.3 NM_152385 "CCDS46287|CCDS33201" Q8NHS4 MGI:1920574 RGD:1307937 HGNC:26453 "ENST00000401408.6|NM_152385.4" +HGNC:2062 CLIC1 chloride intracellular channel 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "NCC27|p64CLCP|G6|CLCNL1" Chloride intracellular channels 307 1997-07-01 2019-07-31 1192 ENSG00000213719 OTTHUMG00000031103 uc063yyp.1 U93205 NM_001288 CCDS4719 O00299 9139710 MGI:2148924 RGD:1303043 602872 HGNC:2062 +HGNC:32691 CLIC1P1 chloride intracellular channel 1 pseudogene 1 pseudogene pseudogene Approved 12q24.31 12q24.31 2006-04-07 2020-04-20 390363 ENSG00000231313 OTTHUMG00000169145 NG_021736 PGOHUM00000291822 HGNC:32691 +HGNC:2063 CLIC2 chloride intracellular channel 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "XAP121|CLCNL2" Chloride intracellular channels 307 1997-10-17 2021-05-26 1193 ENSG00000155962 OTTHUMG00000022660 uc004fnf.5 AJ000217 NM_001289 CCDS14767 O15247 9339381 RGD:1306580 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CLIC2 300138 327331 HGNC:2063 "ENST00000369449.7|NM_001289.6" HGNC:2063 +HGNC:2064 CLIC3 chloride intracellular channel 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 Chloride intracellular channels 307 1999-01-19 2015-09-07 9022 ENSG00000169583 OTTHUMG00000020954 uc004ckj.2 AF102166 NM_004669 CCDS7021 O95833 9880541 MGI:1916704 RGD:1307249 606533 HGNC:2064 "ENST00000494426.2|NM_004669.3" +HGNC:13518 CLIC4 chloride intracellular channel 4 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "DKFZP566G223|CLIC4L|P64H1|H1|huH1|p64H1" Chloride intracellular channels 307 2000-10-31 2016-10-05 25932 ENSG00000169504 OTTHUMG00000003327 uc001bjo.3 AF097330 NM_013943 CCDS256 Q9Y696 "9139710|10070163" MGI:1352754 RGD:61857 606536 HGNC:13518 "ENST00000374379.9|NM_013943.3" +HGNC:49797 CLIC4P1 chloride intracellular channel 4 pseudogene 1 pseudogene pseudogene Approved 9p21.3 09p21.3 2014-02-21 2014-02-21 646609 ENSG00000236739 OTTHUMG00000019694 NG_021641 PGOHUM00000236413 HGNC:49797 +HGNC:49798 CLIC4P2 chloride intracellular channel 4 pseudogene 2 pseudogene pseudogene Approved 19p13.3 19p13.3 2014-02-21 2016-11-09 100130584 ENSG00000269546 OTTHUMG00000181833 NG_021738 PGOHUM00000294849 HGNC:49798 +HGNC:49799 CLIC4P3 chloride intracellular channel 4 pseudogene 3 pseudogene pseudogene Approved Xp11.4 Xp11.4 2014-02-21 2014-02-21 442447 ENSG00000237931 OTTHUMG00000021365 NG_022657 PGOHUM00000241721 HGNC:49799 +HGNC:13517 CLIC5 chloride intracellular channel 5 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 DFNB102 Chloride intracellular channels 307 2000-10-31 2021-05-26 53405 ENSG00000112782 OTTHUMG00000014775 uc003oxu.5 AF216941 NM_001114086 "CCDS4914|CCDS47438|CCDS59022" Q9NZA1 "10793131|24781754" MGI:1917912 RGD:620659 607293 406620 HGNC:13517 "ENST00000339561.12|NM_016929.5" HGNC:13517 +HGNC:2065 CLIC6 chloride intracellular channel 6 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 CLIC5 CLIC1L Chloride intracellular channels 307 2000-05-23 2015-08-28 54102 ENSG00000159212 OTTHUMG00000086237 uc002yuf.2 AF426169 NM_001317009 "CCDS13638|CCDS82669" Q96NY7 10830953 MGI:2146607 RGD:727938 615321 HGNC:2065 "ENST00000349499.3|NM_053277.3" +HGNC:23186 CLINT1 clathrin interactor 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "ENTH|KIAA0171|EPNR|CLINT" 2006-06-13 2006-06-13 9685 ENSG00000113282 OTTHUMG00000163527 uc003lxj.3 AF434813 NM_014666 "CCDS47330|CCDS56388|CCDS56389" Q14677 "12213833|12429846" MGI:2144243 RGD:1303328 607265 HGNC:23186 "ENST00000411809.7|NM_014666.4" +HGNC:10461 CLIP1 CAP-Gly domain containing linker protein 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "CYLN1|CLIP170|CLIP|CLIP-170" restin RSN "restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)|CAP-GLY domain containing linker protein 1" 1993-06-10 2007-01-05 2015-11-17 2016-10-05 6249 ENSG00000130779 OTTHUMG00000168922 uc001ucg.2 NM_002956 "CCDS9232|CCDS58285|CCDS9233" P30622 8222754 MGI:1928401 RGD:67404 CLIP1 179838 406382 HGNC:10461 "ENST00000620786.5|NM_001247997.2" HGNC:10461 +HGNC:48586 CLIP1-AS1 CLIP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Antisense RNAs 1987 2014-03-26 2014-03-26 100507066 ENSG00000257097 OTTHUMG00000168927 NR_045382 CLIP1-AS1 HGNC:48586 +HGNC:2586 CLIP2 CAP-Gly domain containing linker protein 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "CLIP-115|KIAA0291|WSCR4|CLIP|WSCR3" "WBSCR4|CYLN2|WBSCR3" "cytoplasmic linker 2|Williams-Beuren syndrome chromosome region 3|CAP-GLY domain containing linker protein 2" 1997-09-12 2007-01-04 2015-11-17 2015-11-17 7461 ENSG00000106665 OTTHUMG00000022980 uc003uam.3 AB006629 NM_003388 "CCDS5569|CCDS5570" Q9UDT6 "8812460|9799601" MGI:1313136 RGD:62019 603432 120630 HGNC:2586 "ENST00000223398.11|NM_003388.5" +HGNC:24314 CLIP3 CAP-Gly domain containing linker protein 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "CLIPR-59|RSNL1" "CLIP-170-related|restin-like 1" CAP-GLY domain containing linker protein 3 Ankyrin repeat domain containing 403 2007-01-04 2015-11-17 2015-11-17 25999 ENSG00000105270 OTTHUMG00000181747 uc002ocz.3 AJ427922 NM_015526 CCDS12486 Q96DZ5 11854307 MGI:1923936 RGD:1306245 607382 HGNC:24314 "ENST00000360535.9|NM_015526.3" +HGNC:26108 CLIP4 CAP-Gly domain containing linker protein family member 4 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 FLJ21069 RSNL2 "restin-like 2|CAP-GLY domain containing linker protein family, member 4" Ankyrin repeat domain containing 403 2004-11-29 2007-01-04 2015-11-17 2016-10-05 79745 ENSG00000115295 OTTHUMG00000097837 uc002rmv.4 AK024722 NM_024692 "CCDS1770|CCDS74502" Q8N3C7 MGI:1919100 RGD:1311049 HGNC:26108 "ENST00000320081.10|NM_024692.6" +HGNC:2068 CLK1 CDC like kinase 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 CDC-like kinase 1 CDC like kinases 480 1991-08-07 2015-11-12 2016-10-05 1195 ENSG00000013441 OTTHUMG00000132784 uc002uwe.3 L29219 NM_001162407 "CCDS2331|CCDS54427" P49759 9856501 MGI:107403 RGD:1311469 601951 objectId:1990 HGNC:2068 "ENST00000321356.9|NM_004071.4" +HGNC:2069 CLK2 CDC like kinase 2 protein-coding gene gene with protein product Approved 1q22 01q22 CDC-like kinase 2 CDC like kinases 480 1998-02-11 2015-11-12 2020-04-30 1196 ENSG00000176444 OTTHUMG00000035873 uc001fjw.4 L29218 NM_003993 "CCDS86020|CCDS72939|CCDS1107" P49760 "7990150|9856501" MGI:1098669 RGD:1359711 602989 objectId:1991 HGNC:2069 "ENST00000368361.9|NM_001294338.2" +HGNC:2070 CLK2P1 CDC like kinase 2, pseudogene 1 pseudogene pseudogene Approved 7p15.3 07p15.3 CLK2P "CDC-like kinase 2, pseudogene|CDC-like kinase 2, pseudogene 1" 1998-03-20 2015-02-06 2015-11-12 2015-11-12 1197 ENSG00000232553 OTTHUMG00000152684 BC022025 NR_002711 "7990150|9856501" PGOHUM00000302070 HGNC:2070 +HGNC:2071 CLK3 CDC like kinase 3 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 CDC-like kinase 3 CDC like kinases 480 1998-02-11 2015-11-12 2020-04-30 1198 ENSG00000179335 OTTHUMG00000141320 uc002ayg.4 L29220 NM_001130028 CCDS10265 P49761 "7990150|9856501" MGI:1098670 RGD:621259 602990 objectId:1992 HGNC:2071 "ENST00000395066.9|NM_001130028.2" +HGNC:49785 CLK3P1 CDC like kinase 3 pseudogene 1 pseudogene pseudogene Approved 9p22.1 09p22.1 CDC-like kinase 3 pseudogene 1 2014-02-14 2015-11-12 2015-11-12 646505 NG_007302 PGOHUM00000235982 HGNC:49785 +HGNC:49786 CLK3P2 CDC like kinase 3 pseudogene 2 pseudogene pseudogene Approved 1q44 01q44 CDC-like kinase 3 pseudogene 2 2014-02-14 2015-11-12 2015-11-12 100128834 ENSG00000226191 OTTHUMG00000040208 NG_007301 PGOHUM00000259538 HGNC:49786 +HGNC:13659 CLK4 CDC like kinase 4 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 CDC-like kinase 4 CDC like kinases 480 2001-11-28 2015-11-12 2016-10-05 57396 ENSG00000113240 OTTHUMG00000130893 uc003mjf.2 AF294429 NM_020666 CCDS4437 Q9HAZ1 11170754 MGI:1098551 RGD:1310274 607969 objectId:1993 HGNC:13659 "ENST00000316308.9|NM_020666.3" +HGNC:29841 CLLU1 chronic lymphocytic leukemia up-regulated 1 non-coding RNA RNA, long non-coding Approved 12q22 12q22 Long non-coding RNAs with non-systematic symbols 1992 2005-06-30 2019-03-06 574028 ENSG00000257127 OTTHUMG00000170103 uc001tcf.3 AJ845162 NR_027932 Q5K131 "19726446|22102831" 616988 HGNC:29841 +HGNC:24070 CLLU1-AS1 CLLU1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q22 12q22 CLLU1OS "chronic lymphocytic leukemia up-regulated 1 overlapping strand|chronic lymphocytic leukemia up-regulated 1 opposite strand" Antisense RNAs 1987 2005-06-30 2019-10-30 2019-10-30 2019-10-30 574016 ENSG00000205057 OTTHUMG00000161990 uc001tcb.1 AJ845168 NR_164161 Q5K130 616989 HGNC:24070 +HGNC:52287 CLMAT3 colorectal liver metastasis associated transcript 3 non-coding RNA RNA, long non-coding Approved 5q33.1 05q33.1 SPARC-AS1 SPARC antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2017-06-15 2017-06-15 101927096 ENSG00000249035 OTTHUMG00000163500 NR_109873 26050227 HGNC:52287 +HGNC:19972 CLMN calmin protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "FLJ12383|KIAA1188|KIAA0500" calmin (calponin-like, transmembrane) 2002-12-09 2016-07-05 2016-07-05 79789 ENSG00000165959 OTTHUMG00000171629 uc001yef.3 AB033014 NM_024734 CCDS9933 Q96JQ2 11386753 MGI:2136957 RGD:1306741 611121 HGNC:19972 "ENST00000298912.9|NM_024734.4" +HGNC:24039 CLMP CXADR like membrane protein protein-coding gene gene with protein product Approved 11q24.1 11q24.1 "ASAM|FLJ22415|ACAM" "adipocyte-specific adhesion molecule|coxsackie- and adenovirus receptor-like membrane protein|adipocyte adhesion molecule" "I-set domain containing|IgCAM CXADR-related subfamily" "593|1414" 2011-01-27 2016-06-21 2016-10-05 79827 ENSG00000166250 OTTHUMG00000166031 uc001pyt.4 BC009371 NM_024769 CCDS8441 Q9H6B4 "12851705|14573622" MGI:1918816 RGD:708569 611693 293034 HGNC:24039 "ENST00000448775.4|NM_024769.5" HGNC:24039 +HGNC:2074 CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "JNCL|BTN1" juvenile neuronal ceroid lipofuscinosis BTS "Batten, Spielmeyer-Vogt disease|ceroid-lipofuscinosis, neuronal 3|CLN3, battenin" 1989-06-06 2019-01-25 2021-05-26 1201 ENSG00000188603 OTTHUMG00000097024 uc002dpo.4 U32680 NM_000086 "CCDS73853|CCDS10632|CCDS73855|CCDS73854" Q13286 18317235 MGI:107537 RGD:1359537 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|Mutations of the CLN3 Gene|http://www.retina-international.org/files/sci-news/cln3mut.htm|LRG_689|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_689.xml" 607042 120638 HGNC:2074 "ENST00000636147.2|NM_001042432.2" HGNC:2074 +HGNC:2076 CLN5 CLN5 intracellular trafficking protein protein-coding gene gene with protein product Approved 13q22.3 13q22.3 "ceroid-lipofuscinosis, neuronal 5|CLN5, intracellular trafficking protein" 1993-11-03 2019-01-25 2021-05-26 1203 ENSG00000102805 OTTHUMG00000017100 uc001vkc.4 NM_006493 CCDS9456 O75503 "7942847|8661106" MGI:2442253 RGD:1306965 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_692|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_692.xml" 608102 120641 HGNC:2076 "ENST00000377453.9|NM_006493.4" HGNC:2076 +HGNC:2077 CLN6 CLN6 transmembrane ER protein protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ20561|HsT18960|nclf" "ceroid-lipofuscinosis, neuronal 6, late infantile, variant|CLN6, transmembrane ER protein" 1996-10-11 2019-01-25 2021-05-26 54982 ENSG00000128973 OTTHUMG00000133286 uc002arf.3 AK000568 NM_017882 CCDS10227 Q9NWW5 "9097964|11727201" MGI:2159324 RGD:1309714 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_832|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_832.xml" 606725 120643 HGNC:2077 "ENST00000249806.11|NM_017882.3" HGNC:2077 +HGNC:2079 CLN8 CLN8 transmembrane ER and ERGIC protein protein-coding gene gene with protein product Approved 8p23.3 08p23.3 "FLJ39417|TLCD6" "EPMR|C8orf61" "chromosome 8 open reading frame 61|epilepsy, progressive with mental retardation|ceroid-lipofuscinosis, neuronal 8|CLN8, transmembrane ER and ERGIC protein" TLC domain containing 1374 1993-12-15 2019-01-25 2021-05-26 2055 ENSG00000182372 OTTHUMG00000090343 uc003wpo.5 AF123761 NM_018941 CCDS5956 Q9UBY8 "10508524|23160995" MGI:1349447 RGD:1359518 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_691|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_691.xml" 607837 120648 HGNC:2079 "ENST00000331222.6|NM_018941.4" HGNC:2079 +HGNC:55523 CLN8-AS1 CLN8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p23.3 08p23.3 Antisense RNAs 1987 2021-03-18 2021-03-18 101927752 ENSG00000253982 NR_134303 +HGNC:17438 CLNK cytokine dependent hematopoietic cell linker protein-coding gene gene with protein product Approved 4p16.1 04p16.1 MIST mast cell immunoreceptor signal transducer SH2 domain containing 741 2008-11-20 2016-01-18 2016-01-18 116449 ENSG00000109684 OTTHUMG00000160062 uc003gmo.5 AB032369 NM_052964 CCDS47024 Q7Z7G1 "10562326|10744659" MGI:1351468 RGD:1562417 611434 HGNC:17438 "ENST00000226951.11|NM_052964.4" +HGNC:2080 CLNS1A chloride nucleotide-sensitive channel 1A protein-coding gene gene with protein product Approved 11q14.1 11q14.1 ICln methylosome subunit pICln CLCI chloride channel, nucleotide-sensitive, 1A 1997-10-16 2016-02-05 2020-01-06 1207 ENSG00000074201 OTTHUMG00000165143 uc001oyk.4 U17899 NM_001293 "CCDS81600|CCDS81601|CCDS8252|CCDS81602" P54105 "7887970|8975725" MGI:109638 RGD:61884 602158 HGNC:2080 "ENST00000525428.6|NM_001293.3" +HGNC:2081 CLNS1AP1 chloride nucleotide-sensitive channel 1A pseudogene 1 pseudogene pseudogene Approved 6p12.1 06p12.1 ICln CLNS1B "chloride channel, nucleotide-sensitive, 1B|chloride channel, nucleotide-sensitive, 1A pseudogene 1" 1997-10-16 2010-12-17 2016-02-05 2016-10-05 1204 ENSG00000213335 OTTHUMG00000014894 NG_002905 "8975725|9524223" PGOHUM00000243207 HGNC:2081 +HGNC:2082 CLOCK clock circadian regulator protein-coding gene gene with protein product Approved 4q12 04q12 "KIAA0334|KAT13D|bHLHe8" "clock (mouse) homolog|clock homolog (mouse)" "Basic helix-loop-helix proteins|Lysine acetyltransferases|PAS domain containing" "420|486|2127" 1999-04-19 2012-12-07 2015-09-11 9575 ENSG00000134852 OTTHUMG00000102141 uc003hba.3 AF011568 NM_004898 CCDS3500 O15516 10198158 MGI:99698 RGD:620271 601851 objectId:2649 HGNC:2082 "ENST00000513440.6|NM_004898.4" +HGNC:16999 CLP1 cleavage factor polyribonucleotide kinase subunit 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "HEAB|hClp1" "ATP/GTPbinding protein|polyribonucleotide 5'-hydroxyl-kinase" "CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)|cleavage and polyadenylation factor I subunit 1" 2006-11-13 2019-10-03 2021-05-26 10978 ENSG00000172409 OTTHUMG00000167146 uc001nkw.4 BC000446 NM_006831 "CCDS7964|CCDS44600" Q92989 "8896421|11060040" MGI:2138968 RGD:1307679 608757 422996 2.7.1.78 HGNC:16999 "ENST00000533682.2|NM_006831.3" HGNC:16999 +HGNC:30664 CLPB caseinolytic mitochondrial matrix peptidase chaperone subunit B protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "HSP78|SKD3|FLJ13152|ANKCLB" "suppressor of potassium transport defect 3|ankyrin-repeat containing bacterial clp fusion" "ClpB caseinolytic peptidase B homolog (E. coli)|ClpB homolog, mitochondrial AAA ATPase chaperonin" "Ankyrin repeat domain containing|AAA ATPases|Chaperonins" "403|413|587" 2005-10-04 2019-10-07 2021-05-26 81570 ENSG00000162129 OTTHUMG00000167902 uc001osj.5 BC006404 NM_030813 "CCDS58154|CCDS58153|CCDS58152|CCDS8215" Q9H078 "7835694|25650066|25710177" MGI:1100517 RGD:621328 LRG_1338|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1338.xml 616254 449270 HGNC:30664 "ENST00000538039.6|NM_001258392.3" HGNC:30664 +HGNC:2084 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human "ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog|ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)|ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)" AAA ATPases 413 1999-09-20 2013-09-12 2021-05-26 8192 ENSG00000125656 OTTHUMG00000180779 uc002mem.2 Z50853 NM_006012 CCDS12162 Q16740 "8543061|23360988" MGI:1858213 RGD:1588583 LRG_1402|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1402.xml 601119 331967 S14.003 HGNC:2084 "ENST00000245816.11|NM_006012.4" HGNC:2084 +HGNC:2085 CLPS colipase protein-coding gene gene with protein product Approved 6p21.31 06p21.31 pancreatic colipase colipase, pancreatic 1990-10-05 2015-11-18 2015-11-18 1208 ENSG00000137392 OTTHUMG00000014578 uc003ole.3 NM_001832 "CCDS75438|CCDS75437|CCDS4811" P04118 2045105 MGI:88421 RGD:2363 120105 HGNC:2085 "ENST00000259938.7|NM_001832.4" +HGNC:21251 CLPSL1 colipase like 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 dJ510O8.6 C6orf127 "chromosome 6 open reading frame 127|colipase-like 1" 2003-11-26 2012-02-06 2015-11-18 2015-11-18 340204 ENSG00000204140 OTTHUMG00000014582 uc003old.5 NM_001010886 CCDS43456 A2RUU4 HGNC:21251 "ENST00000373861.6|NM_001010886.5" +HGNC:21250 CLPSL2 colipase like 2 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "dJ510O8.5|UNQ3045" C6orf126 "chromosome 6 open reading frame 126|colipase-like 2" 2003-11-26 2012-02-06 2015-11-18 2015-11-18 389383 ENSG00000196748 OTTHUMG00000014581 uc010jvz.3 NM_207409 "CCDS69095|CCDS4810" Q6UWE3 MGI:2685595 RGD:1592336 HGNC:21250 "ENST00000403376.4|NM_207409.4" +HGNC:2087 CLPTM1 CLPTM1 regulator of GABA type A receptor forward trafficking protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "cleft lip and palate associated transmembrane protein 1|CLPTM1, transmembrane protein" 1998-04-06 2019-01-31 2019-01-31 1209 ENSG00000104853 OTTHUMG00000180849 uc002pai.5 AF037339 NM_001294 "CCDS74395|CCDS74394|CCDS12651" O96005 "9828125|29395912" MGI:1927155 RGD:1310959 604783 HGNC:2087 "ENST00000337392.10|NM_001294.4" +HGNC:24308 CLPTM1L CLPTM1 like protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FLJ14400|CRR9" cisplatin resistance related protein CLPTM1-like 2006-08-09 2016-06-23 2016-06-23 81037 ENSG00000049656 OTTHUMG00000131015 uc003jch.4 AK027306 NM_030782 CCDS3862 Q96KA5 11162647 MGI:2442892 RGD:1307896 612585 HGNC:24308 "ENST00000320895.10|NM_030782.5" +HGNC:49023 CLPTM1LP1 CLPTM1L pseudogene 1 pseudogene pseudogene Approved 1q31.1 01q31.1 2013-08-09 2013-08-09 106480241 ENSG00000271036 OTTHUMG00000184460 NG_043819 PGOHUM00000244375 HGNC:49023 +HGNC:2088 CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "ClpX (caseinolytic protease X, E. coli) homolog|ClpX caseinolytic protease X homolog (E. coli)" AAA ATPases 413 2000-03-14 2019-10-07 2019-10-07 10845 ENSG00000166855 OTTHUMG00000133139 uc002aom.4 AJ006267 NM_006660 CCDS10202 O76031 22841477 MGI:1346017 RGD:1304883 615611 HGNC:2088 "ENST00000300107.7|NM_006660.5" +HGNC:12605 CLRN1 clarin 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "USH3|USH3A|RP61" Usher syndrome 3A Clarins 1473 1998-10-23 2006-11-23 2006-11-23 2021-05-26 7401 ENSG00000163646 OTTHUMG00000140368 uc003eyk.1 AF388366 NM_001195794 "CCDS56285|CCDS35492|CCDS3153" P58418 "7711740|8975700" MGI:2388124 RGD:628779 "Mutations of the Usher Syndrome Type 3 Gene|http://www.retina-international.org/files/sci-news/ush3mut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=CLRN1|LRG_700|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_700.xml" 606397 120653 HGNC:12605 "ENST00000327047.6|NM_174878.3" HGNC:12605 +HGNC:30895 CLRN1-AS1 CLRN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 UCRP CLRN1OS "clarin 1 opposite strand|CLRN1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2007-01-05 2011-04-28 2012-08-15 2019-07-11 116933 ENSG00000239265 OTTHUMG00000159846 uc011bny.2 NR_024066 "11524702|31235696" CLRN1-AS1 HGNC:30895 +HGNC:33939 CLRN2 clarin 2 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 Clarins 1473 2008-01-17 2015-08-24 645104 ENSG00000249581 OTTHUMG00000160273 uc003gpg.1 NM_001079827 CCDS47032 A0PK11 12080385 MGI:3646230 RGD:1591112 618988 HGNC:33939 "ENST00000511148.2|NM_001079827.2" HGNC:33939 +HGNC:20795 CLRN3 clarin 3 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "MGC32871|USH3AL1" TMEM12 transmembrane protein 12 Clarins 1473 2005-10-04 2006-11-23 2006-11-23 2014-11-19 119467 ENSG00000180745 OTTHUMG00000019253 uc001lka.2 BC029478 NM_152311 CCDS7656 Q8NCR9 "12145752|12080385" MGI:2142022 RGD:1305043 HGNC:20795 "ENST00000368671.4|NM_152311.5" +HGNC:19715 CLSPN claspin protein-coding gene gene with protein product Approved 1p34.3 01p34.3 claspin homolog (Xenopus laevis) 2002-11-15 2010-06-24 2014-11-18 63967 ENSG00000092853 OTTHUMG00000004168 uc001bzi.4 AF297866 NM_022111 "CCDS81299|CCDS396|CCDS53297" Q9HAW4 "11090622|12766152" MGI:2445153 RGD:1309083 605434 HGNC:19715 "ENST00000318121.8|NM_022111.4" +HGNC:17447 CLSTN1 calsyntenin 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "CSTN1|KIAA0911|CDHR12" cadherin-related family member 12 Cadherin related 24 2002-05-01 2015-09-11 22883 ENSG00000171603 OTTHUMG00000001451 uc001aqi.4 AB020718 NM_001009566 "CCDS105|CCDS30580" O94985 10048485 MGI:1929895 RGD:1306458 611321 HGNC:17447 "ENST00000377298.9|NM_001009566.3" +HGNC:17448 CLSTN2 calsyntenin 2 protein-coding gene gene with protein product Approved 3q23 03q23 "CSTN2|CS2|FLJ39113|CDHR13" cadherin-related family member 13 Cadherin related 24 2002-05-01 2015-09-11 64084 ENSG00000158258 OTTHUMG00000160139 uc003etn.4 AJ278018 NM_022131 CCDS3112 Q9H4D0 12498782 MGI:1929897 RGD:621151 611323 HGNC:17448 "ENST00000458420.7|NM_022131.3" +HGNC:49095 CLSTN2-AS1 CLSTN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 Antisense RNAs 1987 2013-09-02 2013-09-02 101927808 ENSG00000250433 OTTHUMG00000160140 AL133103 NR_108084 CLSTN2-AS1 HGNC:49095 +HGNC:18371 CLSTN3 calsyntenin 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CSTN3|KIAA0726|CDHR14" cadherin-related family member 14 Cadherin related 24 2002-05-01 2015-09-11 9746 ENSG00000139182 OTTHUMG00000168167 uc001qsr.4 AB018269 NM_014718 CCDS8575 Q9BQT9 12498782 MGI:2178323 RGD:621153 611324 HGNC:18371 "ENST00000266546.11|NM_014718.4" +HGNC:2090 CLTA clathrin light chain A protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Lca "clathrin, light polypeptide (Lca)|clathrin, light chain A" Clathrin subunits 1647 1991-08-08 2016-01-18 2016-01-18 1211 ENSG00000122705 OTTHUMG00000019896 uc064tak.1 NM_007096 "CCDS6600|CCDS55307|CCDS55306|CCDS83364|CCDS43802|CCDS6601" P09496 7713494 MGI:894297 RGD:70919 118960 HGNC:2090 "ENST00000345519.10|NM_001833.4" +HGNC:2091 CLTB clathrin light chain B protein-coding gene gene with protein product Approved 5q35.2 05q35.2 Lcb "clathrin, light polypeptide (Lcb)|clathrin, light chain B" Clathrin subunits 1647 1990-10-16 2016-01-18 2016-01-18 1212 ENSG00000175416 OTTHUMG00000130662 uc003meh.4 M20470 NM_001364126 "CCDS4403|CCDS4402|CCDS87350" P09497 7713494 MGI:1921575 RGD:621353 118970 HGNC:2091 "ENST00000310418.9|NM_007097.5" +HGNC:2092 CLTC clathrin heavy chain protein-coding gene gene with protein product Approved 17q23.1 17q23.1 Hc CLTCL2 "clathrin, heavy polypeptide (Hc)|clathrin, heavy chain|clathrin, heavy polypeptide-like 2|clathrin, heavy chain (Hc)" Clathrin subunits 1647 1990-10-16 2016-01-18 2016-01-18 1213 ENSG00000141367 OTTHUMG00000134279 uc002ixq.2 X55878 NM_004859 "CCDS74115|CCDS32696" Q00610 "1765375|7584026" MGI:2388633 RGD:2364 CLTC 118955 326742 HGNC:2092 "ENST00000269122.8|NM_004859.4" HGNC:2092 +HGNC:2093 CLTCL1 clathrin heavy chain like 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "CLTD|CLH22|CHC22" CLTCL "clathrin, heavy polypeptide-like 1|clathrin, heavy chain-like 1" Clathrin subunits 1647 1995-09-08 2016-01-18 2020-03-10 8218 ENSG00000070371 OTTHUMG00000150109 uc032qgb.2 NM_007098 "CCDS46662|CCDS54497" P53675 "8844170|15133132" CLTCL1 601273 457570 HGNC:2093 "ENST00000427926.6|NM_007098.4" HGNC:2093 +HGNC:29437 CLTRN collectrin, amino acid transport regulator protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 NX17 collectrin TMEM27 transmembrane protein 27 2004-06-02 2017-12-11 2017-12-11 2020-11-17 57393 ENSG00000147003 OTTHUMG00000021181 uc004cxc.4 AF229179 NM_020665 CCDS14170 Q9HBJ8 11278314 MGI:1926234 RGD:708489 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TMEM27 300631 HGNC:29437 "ENST00000380342.4|NM_020665.6" HGNC:29437 +HGNC:2095 CLU clusterin protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "SGP-2|SP-40|TRPM-2|KUB1|CLU1|CLU2" "complement lysis inhibitor|sulfated glycoprotein 2|testosterone-repressed prostate message 2|apolipoprotein J" "CLI|APOJ" clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J) "Complement system regulators and receptors|MicroRNA protein coding host genes" "1639|1691" 1990-07-26 2006-02-10 2016-10-05 1191 ENSG00000120885 OTTHUMG00000102114 uc003xfz.3 M64722 NM_001831 CCDS47832 P10909 1585460 MGI:88423 RGD:3907 185430 469954 objectId:3195 HGNC:2095 "ENST00000316403.15|NM_001831.4" +HGNC:19009 CLUAP1 clusterin associated protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ13297|KIAA0643|FAP22|CFAP22|IFT38" "flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)|cilia and flagella associated protein 22" "Cilia and flagella associated|IFT-B2 complex" "1491|1981" 2004-09-16 2020-01-28 23059 ENSG00000103351 OTTHUMG00000177581 uc002cvk.3 BC017070 NM_024793 "CCDS81942|CCDS45398|CCDS32381" Q96AJ1 "15480429|19253336" MGI:1924029 RGD:1359189 616787 470104 HGNC:19009 "ENST00000576634.6|NM_015041.3" HGNC:19009 +HGNC:29094 CLUH clustered mitochondria homolog protein-coding gene gene with protein product Approved 17p13.3 17p13.3 CLU1 KIAA0664 "KIAA0664|clustered mitochondria (cluA/CLU1) homolog" MicroRNA protein coding host genes 1691 2005-12-19 2012-11-30 2016-06-21 2016-06-21 23277 ENSG00000132361 OTTHUMG00000177575 uc059zog.1 AB014564 NM_015229 CCDS45572 O75153 25349259 MGI:1921398 RGD:1307222 616184 470106 HGNC:29094 "ENST00000651024.2|NM_001366661.1" +HGNC:38416 CLUHP1 clustered mitochondria homolog pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 KIAA0664L1 KIAA0664-like 1 KIAA0664P1 "KIAA0664 pseudogene 1|clustered mitochondria (cluA/CLU1) homolog pseudogene 1" 2010-05-05 2012-11-30 2016-06-27 2016-06-27 100418708 ENSG00000238191 OTTHUMG00000041625 NG_004636 PGOHUM00000305491 HGNC:38416 +HGNC:38453 CLUHP2 clustered mitochondria homolog pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 KIAA0664L2 KIAA0664-like 2 KIAA0664P2 "KIAA0664 pseudogene 2|clustered mitochondria (cluA/CLU1) homolog pseudogene 2" 2010-05-05 2012-11-30 2016-06-27 2016-06-27 100418709 ENSG00000228945 OTTHUMG00000041967 NG_004636 PGOHUM00000305685 HGNC:38453 +HGNC:28447 CLUHP3 clustered mitochondria homolog pseudogene 3 pseudogene pseudogene Approved 16p11.2 16p11.2 MGC3020 "C16orf67|KIAA0664P3|KIAA0664L3" "chromosome 16 open reading frame 67|KIAA0664 pseudogene 3|KIAA0664-like 3|clustered mitochondria (cluA/CLU1) homolog pseudogene 3" 2006-04-04 2012-11-30 2016-06-27 2020-04-20 100132341 ENSG00000131797 OTTHUMG00000132462 AK054698 NR_024034 Q96NS8 12477932 PGOHUM00000293785 HGNC:28447 +HGNC:38470 CLUHP4 clustered mitochondria homolog pseudogene 4 pseudogene pseudogene Approved 4q35.2 04q35.2 KIAA0664L4 KIAA0664-like 4 KIAA0664P4 "KIAA0664 pseudogene 4|clustered mitochondria (cluA/CLU1) homolog pseudogene 4" 2010-05-05 2012-11-30 2016-06-27 2016-06-27 100418711 ENSG00000249003 OTTHUMG00000161343 NG_022045 PGOHUM00000300101 HGNC:38470 +HGNC:38471 CLUHP5 clustered mitochondria homolog pseudogene 5 pseudogene pseudogene Approved 10q26.3 10q26.3 KIAA0664L5 KIAA0664-like 5 KIAA0664P5 "KIAA0664 pseudogene 5|clustered mitochondria (cluA/CLU1) homolog pseudogene 5" 2010-05-05 2012-11-30 2016-06-27 2016-06-27 100418745 ENSG00000230468 OTTHUMG00000019331 NG_022159 PGOHUM00000290027 HGNC:38471 +HGNC:51571 CLUHP6 clustered mitochondria homolog pseudogene 6 pseudogene pseudogene Approved 18q12.1 18q12.1 clustered mitochondria (cluA/CLU1) homolog pseudogene 6 2015-03-10 2016-06-27 2016-06-27 100418754 ENSG00000265279 OTTHUMG00000179734 NG_026287 PGOHUM00000294646 HGNC:51571 +HGNC:51570 CLUHP7 clustered mitochondria homolog pseudogene 7 pseudogene pseudogene Approved 7q11.21 07q11.21 clustered mitochondria (cluA/CLU1) homolog pseudogene 7 2015-03-10 2016-06-27 2016-06-27 100418719 NG_026587 PGOHUM00000302756 HGNC:51570 +HGNC:51573 CLUHP8 clustered mitochondria homolog pseudogene 8 pseudogene pseudogene Approved 12q12 12q12 clustered mitochondria (cluA/CLU1) homolog pseudogene 8 2015-03-10 2016-06-27 2016-06-27 100418733 ENSG00000258278 OTTHUMG00000169297 NG_024078 PGOHUM00000291623 HGNC:51573 +HGNC:51572 CLUHP9 clustered mitochondria homolog pseudogene 9 pseudogene pseudogene Approved 13q12.12 13q12.12 clustered mitochondria (cluA/CLU1) homolog pseudogene 9 2015-03-10 2016-06-27 2016-06-27 100418742 NG_024901 PGOHUM00000292103 HGNC:51572 +HGNC:51574 CLUHP10 clustered mitochondria homolog pseudogene 10 pseudogene pseudogene Approved 3p12.3 03p12.3 clustered mitochondria (cluA/CLU1) homolog pseudogene 10 2015-03-10 2016-06-27 2016-11-09 107161230 ENSG00000282511 OTTHUMG00000191433 NG_046708 HGNC:51574 +HGNC:51806 CLUHP11 clustered mitochondria homolog pseudogene 11 pseudogene pseudogene Approved 16p11.2 16p11.2 clustered mitochondria (cluA/CLU1) homolog pseudogene 11 2015-06-09 2016-06-27 2017-03-10 100418756 ENSG00000278138 OTTHUMG00000187977 NG_026413 PGOHUM00000293827 HGNC:51806 +HGNC:2096 CLUL1 clusterin like 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 retinal clusterin-like protein clusterin-like 1 (retinal) 2000-05-30 2015-12-01 2015-12-01 27098 ENSG00000079101 OTTHUMG00000178252 uc002kkp.4 D63813 NM_001289036 CCDS42405 Q15846 "10675623|14507903" RGD:1306852 616990 ligandId:10543 HGNC:2096 "ENST00000692774.1|NM_001393344.1" +HGNC:23139 CLVS1 clavesin 1 protein-coding gene gene with protein product Approved 8q12.2-q12.3 08q12.2-q12.3 "MGC34646|CRALBPL|C6orf212L" RLBP1L1 retinaldehyde binding protein 1-like 1 2007-07-18 2009-10-14 2009-10-14 2018-02-13 157807 ENSG00000177182 OTTHUMG00000164334 uc003xuh.4 AY094971 NM_173519 CCDS6176 Q8IUQ0 "16802092|19651769" MGI:1921688 RGD:1564200 611292 HGNC:23139 "ENST00000325897.5|NM_173519.3" +HGNC:23046 CLVS2 clavesin 2 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 bA160A10.4 "C6orf212|C6orf213|RLBP1L2" "chromosome 6 open reading frame 212|chromosome 6 open reading frame 213|retinaldehyde binding protein 1-like 2" 2003-11-26 2009-10-14 2009-10-14 2015-09-11 134829 ENSG00000146352 OTTHUMG00000015495 uc003pzi.3 AK095527 NM_001010852 CCDS34525 Q5SYC1 19651769 MGI:2443223 RGD:1306801 616945 HGNC:23046 "ENST00000275162.10|NM_001010852.4" +HGNC:25678 CLXN calaxin protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "FLJ11767|ODAD5" outer dynein arm docking complex subunit 5 EFCAB1 EF-hand calcium binding domain 1 EF-hand domain containing 863 2005-07-25 2021-11-29 2021-11-29 2021-11-29 79645 ENSG00000034239 OTTHUMG00000164203 uc003xqo.3 NM_024593 "CCDS47853|CCDS6145" Q9HAE3 31240264 MGI:1914043 RGD:1594548 619564 HGNC:25678 "ENST00000262103.8|NM_024593.4" +HGNC:18355 CLYBL citramalyl-CoA lyase protein-coding gene gene with protein product Approved 13q32.3 13q32.3 CLB citrate lyase beta like MicroRNA protein coding host genes 1691 2002-03-17 2020-03-10 2020-03-10 171425 ENSG00000125246 OTTHUMG00000017278 uc058xzt.1 AF428253 NM_001393355 CCDS32002 Q8N0X4 29056341 MGI:1916884 RGD:1304615 609686 4.1.3.25 HGNC:18355 "ENST00000339105.9|NM_206808.5" +HGNC:39893 CLYBL-AS1 CLYBL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 CLYBL antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2020-04-20 101927465 ENSG00000234303 OTTHUMG00000017276 uc058xzv.1 NR_046525 CLYBL-AS1 HGNC:39893 +HGNC:39894 CLYBL-AS2 CLYBL antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 CLYBL antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2022-01-31 100874063 ENSG00000227659 OTTHUMG00000017275 uc032anj.2 NR_046526 CLYBL-AS2 HGNC:39894 +HGNC:56191 CLYBL-AS3 CLYBL antisense RNA 3 non-coding RNA RNA, long non-coding Approved Antisense RNAs 1987 2022-01-31 2022-01-31 2022-01-31 2022-01-31 101927437 NR_120421 +HGNC:2097 CMA1 chymase 1 protein-coding gene gene with protein product Approved 14q12 14q12 chymase 1, mast cell Granule associated serine proteases of immune defence 1636 1991-06-04 2016-02-26 2016-02-26 1215 ENSG00000092009 OTTHUMG00000140181 uc001wpp.2 NM_001836 "CCDS9630|CCDS76666" P23946 8468056 MGI:96941 RGD:2365 118938 S01.140 objectId:2340 3.4.21.39 HGNC:2097 "ENST00000250378.7|NM_001836.5" +HGNC:2098 CMAHP cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 CMAH cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene) Metallo-beta-lactamase fold containing family 1613 1998-12-22 2011-04-28 2011-04-28 2016-10-05 8418 ENSG00000168405 OTTHUMG00000016099 NR_002174 Q9Y471 "7608218|9624188" MGI:103227 RGD:1311930 603209 HGNC:2098 +HGNC:18290 CMAS cytidine monophosphate N-acetylneuraminic acid synthetase protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "CMP-Neu5Ac synthetase|N-acylneuraminate cytidylyltransferase" 2002-06-11 2015-12-04 55907 ENSG00000111726 OTTHUMG00000169097 uc001rfm.5 AF271388 NM_018686 CCDS8696 Q8NFW8 9689047 MGI:1337124 RGD:1310911 603316 2.7.7.43 HGNC:18290 "ENST00000229329.7|NM_018686.6" HGNC:18290 +HGNC:25090 CMBL carboxymethylenebutenolidase homolog protein-coding gene gene with protein product Approved 5p15.2 05p15.2 FLJ23617 "carboxymethylenebutenolidase-like (Pseudomonas)|carboxymethylenebutenolidase homolog (Pseudomonas)" 2006-08-18 2016-06-23 2016-06-23 134147 ENSG00000164237 OTTHUMG00000131043 uc003jes.4 NM_138809 CCDS3878 Q96DG6 "3804974|20177059" MGI:1916824 RGD:1306952 613379 3.1.-.- HGNC:25090 "ENST00000296658.4|NM_138809.4" +HGNC:28783 CMC1 C-X9-C motif containing 1 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 MGC61571 C3orf68 "chromosome 3 open reading frame 68|COX assembly mitochondrial protein 1 homolog (S. cerevisiae)|C-x(9)-C motif containing 1" Mitochondrial respiratory chain complex assembly factors 645 2007-12-20 2008-06-20 2016-06-07 2019-03-12 152100 ENSG00000187118 OTTHUMG00000155660 uc003cea.4 BC052644 NM_182523 "CCDS87055|CCDS33722" Q7Z7K0 "18443040|28082314" MGI:1915149 RGD:1305283 615166 HGNC:28783 "ENST00000466830.6|NM_182523.2" +HGNC:24447 CMC2 C-X9-C motif containing 2 protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "DC13|MGC45036" C16orf61 "chromosome 16 open reading frame 61|COX assembly mitochondrial protein 2 homolog (S. cerevisiae)|C-x(9)-C motif containing 2" Mitochondrial respiratory chain complex assembly factors 645 2006-02-20 2012-02-14 2016-06-07 2016-06-07 56942 ENSG00000103121 OTTHUMG00000137625 uc059xnh.1 BC032631 NM_020188 CCDS10930 Q9NRP2 20220131 MGI:1913781 RGD:2324599 HGNC:24447 "ENST00000219400.8|NM_020188.5" +HGNC:35428 CMC4 C-X9-C motif containing 4 protein-coding gene gene with protein product Approved Xq28 Xq28 "P8MTCP1|p8" mature T-cell proliferation 1, isoform p8 "MTCP1|MTCP1NB" "mature T-cell proliferation 1 neighbor|C-x(9)-C motif containing 4 homolog (S. cerevisiae)|C-x(9)-C motif containing 4" 2008-12-12 2012-10-15 2016-06-07 2016-06-07 100272147 ENSG00000182712 OTTHUMG00000158504 uc004fmy.4 NM_001018024.2 CCDS14764 P56277 "8361760|9405159|20922212" MGI:5637812 RGD:7647017 HGNC:35428 "ENST00000369484.8|NM_001018024.3" +HGNC:24319 CMIP c-Maf inducing protein protein-coding gene gene with protein product Approved 16q23.2-q23.3 16q23.2-q23.3 MicroRNA protein coding host genes 1691 2011-08-04 2018-02-13 80790 ENSG00000153815 OTTHUMG00000176520 uc002fgp.5 AB051481 NM_030629 "CCDS54045|CCDS54044" Q8IY22 "11214970|12939343" MGI:1921690 RGD:1306101 610112 HGNC:24319 "ENST00000537098.8|NM_198390.3" +HGNC:2121 CMKLR1 chemerin chemokine-like receptor 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 RVER1 "resolvin E1 receptor|chemerin receptor" chemokine-like receptor 1 Chemerin receptors 218 1995-11-22 2015-04-08 2015-04-08 1240 ENSG00000174600 OTTHUMG00000169576 uc001tmv.4 U79526 NM_001142343 "CCDS41829|CCDS44965" Q99788 MGI:109603 RGD:69359 602351 objectId:79 HGNC:2121 "ENST00000550402.6|NM_001142343.2" +HGNC:4463 CMKLR2 chemerin chemokine-like receptor 2 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 GPR1 G protein-coupled receptor 1 Chemerin receptors 218 1994-07-25 2021-04-23 2021-04-23 2021-04-23 2825 ENSG00000183671 OTTHUMG00000132894 uc031rqw.3 NM_001098199 CCDS2368 P46091 "7851889|29279348" MGI:2385324 RGD:2728 600239 objectId:82 HGNC:4463 "ENST00000621141.5|NM_001389445.1" +HGNC:48602 CMKLR2-AS CMKLR2 antisense RNA non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 GPR1AS G protein-coupled receptor 1 antisense RNA "GPR1-AS1|GPR1-AS" "GPR1 antisense RNA 1|GPR1 antisense RNA" Antisense RNAs 1987 2013-05-24 2021-11-03 2021-11-03 2021-11-03 101669764 ENSG00000279220 OTTHUMG00000189431 AB774455 NR_104359 23764515 LRG_1105|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1105.xml 617636 HGNC:48602 +HGNC:18170 CMPK1 cytidine/uridine monophosphate kinase 1 protein-coding gene gene with protein product Approved 1p33 01p33 UMP-CMPK "UMP-CMP kinase|Cytidine monophosphate kinase|UMP/CMP kinase" CMPK "cytidylate kinase|cytidine monophosphate (UMP-CMP) kinase 1, cytosolic" 2005-05-10 2008-01-25 2016-01-18 2016-10-05 51727 ENSG00000162368 OTTHUMG00000007849 uc001cri.3 AF070416 NM_016308 "CCDS549|CCDS44135" P30085 10462544 MGI:1913838 RGD:1310116 191710 2.7.4.14 HGNC:18170 "ENST00000371873.10|NM_016308.3" +HGNC:27015 CMPK2 cytidine/uridine monophosphate kinase 2 protein-coding gene gene with protein product Approved 2p25.2 02p25.2 "TYKi|UMP-CMPK2|NDK" "cytidylate kinase 2|UMP/CMP kinase|nucleoside-diphosphate kinase" cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 2008-01-25 2016-01-18 2016-01-18 129607 ENSG00000134326 OTTHUMG00000151629 uc002qyo.5 NM_207315 "CCDS58695|CCDS58696|CCDS42648" Q5EBM0 17999954 MGI:99830 RGD:1305881 611787 "2.7.4.14|2.7.4.6" HGNC:27015 "ENST00000256722.10|NM_207315.4" +HGNC:28666 CMSS1 cms1 ribosomal small subunit homolog protein-coding gene gene with protein product Approved 3q12.1 03q12.1 MGC4308 C3orf26 "chromosome 3 open reading frame 26|cms1 ribosomal small subunit homolog (yeast)" 2005-12-19 2012-09-20 2018-08-02 2018-08-02 84319 ENSG00000184220 OTTHUMG00000159054 uc003dtl.4 NM_032359 "CCDS54618|CCDS2935" Q9BQ75 12477932 MGI:1913747 RGD:1309437 HGNC:28666 "ENST00000421999.8|NM_032359.4" +HGNC:19172 CMTM1 CKLF like MARVEL transmembrane domain containing 1 protein-coding gene gene with protein product Approved 16q21 16q21 "CKLFH1a|CKLFH" CKLFSF1 "chemokine-like factor super family 1|chemokine-like factor superfamily 1|CKLF-like MARVEL transmembrane domain containing 1" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2016-10-05 113540 ENSG00000089505 OTTHUMG00000137502 uc002epr.5 AF278577 NM_052999 "CCDS54021|CCDS10811|CCDS45504|CCDS54019|CCDS10810|CCDS10812|CCDS54020|CCDS45503" Q8IZ96 12782130 MGI:2447159 RGD:1560130 607884 HGNC:19172 "ENST00000379500.7|NM_052999.4" +HGNC:19173 CMTM2 CKLF like MARVEL transmembrane domain containing 2 protein-coding gene gene with protein product Approved 16q21 16q21 "MGC39436|FLJ25732" CKLFSF2 "chemokine-like factor super family 2|chemokine-like factor superfamily 2|CKLF-like MARVEL transmembrane domain containing 2" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2016-10-05 146225 ENSG00000140932 OTTHUMG00000137501 uc002ept.4 BC025354 NM_001199317 "CCDS56001|CCDS10814" Q8TAZ6 "MGI:2447160|MGI:2447311" RGD:1307501 607885 HGNC:19173 "ENST00000268595.3|NM_144673.3" +HGNC:19174 CMTM3 CKLF like MARVEL transmembrane domain containing 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ31762|BNAS2" CKLFSF3 "chemokine-like factor superfamily 3|CKLF-like MARVEL transmembrane domain containing 3" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2016-10-05 123920 ENSG00000140931 OTTHUMG00000137503 uc002epu.5 AK056324 NM_144601 CCDS10815 Q96MX0 15087455 MGI:2447162 RGD:1308763 607886 HGNC:19174 "ENST00000567572.6|NM_181553.4" +HGNC:19175 CMTM4 CKLF like MARVEL transmembrane domain containing 4 protein-coding gene gene with protein product Approved 16q22.1-q22.3 16q22.1-q22.3 CKLFSF4 "chemokine-like factor super family 4|chemokine-like factor superfamily 4|CKLF-like MARVEL transmembrane domain containing 4" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2016-01-26 146223 ENSG00000183723 OTTHUMG00000137500 uc002eqa.4 AF479814 NM_178818 "CCDS10817|CCDS42170" Q8IZR5 12782130 MGI:2142888 RGD:1565098 607887 HGNC:19175 "ENST00000394106.7|NM_181521.3" +HGNC:19176 CMTM5 CKLF like MARVEL transmembrane domain containing 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ37521 CKLFSF5 "chemokine-like factor super family 5|chemokine-like factor superfamily 5|CKLF-like MARVEL transmembrane domain containing 5" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2016-10-25 116173 ENSG00000166091 OTTHUMG00000028751 uc001wjs.3 BC013109 NM_001037288 "CCDS73619|CCDS73618|CCDS32050|CCDS73617|CCDS9598" Q96DZ9 MGI:2447164 RGD:1307045 607888 HGNC:19176 "ENST00000339180.9|NM_001288746.2" +HGNC:19177 CMTM6 CKLF like MARVEL transmembrane domain containing 6 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 FLJ20396 CKLFSF6 "chemokine-like factor super family 6|chemokine-like factor superfamily 6|CKLF-like MARVEL transmembrane domain containing 6" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2016-10-05 54918 ENSG00000091317 OTTHUMG00000130747 uc003cfa.2 AK000403 NM_017801 CCDS2653 Q9NX76 MGI:2447165 RGD:1307765 607889 HGNC:19177 "ENST00000205636.4|NM_017801.3" +HGNC:19178 CMTM7 CKLF like MARVEL transmembrane domain containing 7 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 FLJ30992 CKLFSF7 "chemokine-like factor super family 7|chemokine-like factor superfamily 7|CKLF-like MARVEL transmembrane domain containing 7" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2016-10-25 112616 ENSG00000153551 OTTHUMG00000155869 uc003cey.2 AF479263 NM_138410 "CCDS33731|CCDS33730" Q96FZ5 MGI:2447166 RGD:1591926 607890 HGNC:19178 "ENST00000334983.10|NM_138410.4" +HGNC:19179 CMTM8 CKLF like MARVEL transmembrane domain containing 8 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 CKLFSF8 "chemokine-like factor super family 8|chemokine-like factor superfamily 8|CKLF-like MARVEL transmembrane domain containing 8" CKLF like MARVEL transmembrane domain containing 978 2002-09-10 2005-11-08 2016-01-26 2016-10-05 152189 ENSG00000170293 OTTHUMG00000130753 uc003cex.4 AF474370 NM_178868 "CCDS82753|CCDS2652" Q8IZV2 MGI:2447167 RGD:735040 607891 HGNC:19179 "ENST00000307526.4|NM_178868.5" +HGNC:21077 CMTR1 cap methyltransferase 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "MTr1|ISG95" "KIAA0082|FTSJD2" "KIAA0082|FtsJ methyltransferase domain containing 2" "G-patch domain containing|7BS 2'O-ribose DNA/RNA methyltransferases" "579|2062" 2003-11-21 2013-07-23 2013-07-23 2015-08-24 23070 ENSG00000137200 OTTHUMG00000014624 BC031890 NM_015050 CCDS4835 Q8N1G2 20713356 MGI:1921407 RGD:1307801 616189 2.1.1.57 HGNC:21077 "ENST00000373451.9|NM_015050.3" +HGNC:25635 CMTR2 cap methyltransferase 2 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "FLJ11171|AFT|MTr2" adrift homolog (Drosophila) FTSJD1 FtsJ methyltransferase domain containing 1 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2008-07-25 2013-07-23 2013-07-23 2014-11-19 55783 ENSG00000180917 OTTHUMG00000137587 BC035005 NM_018348 CCDS10898 Q8IYT2 21310715 MGI:2384580 RGD:1309394 616190 HGNC:25635 "ENST00000434935.7|NM_018348.6" +HGNC:14305 CMYA5 cardiomyopathy associated 5 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "SPRYD2|DKFZp451G223|TRIM76" "genethonin-3|tripartite motif-containing 76|myospryn" C5orf10 chromosome 5 open reading frame 10 "Tripartite motif family|A-kinase anchoring proteins|Fibronectin type III domain containing" "59|396|555" 2002-03-25 2019-07-16 202333 ENSG00000164309 OTTHUMG00000162548 uc003kgc.4 "AW755254|AL831986" NM_153610 CCDS47238 Q8N3K9 "14688250|21427212" MGI:1923719 RGD:1582992 612193 HGNC:14305 "ENST00000446378.3|NM_153610.5" +HGNC:26663 CNBD1 cyclic nucleotide binding domain containing 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 FLJ35802 2005-07-27 2016-10-25 168975 ENSG00000176571 OTTHUMG00000163743 uc003ydy.3 AK093121 NM_173538 CCDS55259 Q8NA66 MGI:3650508 RGD:1592300 HGNC:26663 "ENST00000518476.6|NM_173538.3" +HGNC:16145 CNBD2 cyclic nucleotide binding domain containing 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ954P9.1 "C20orf152|CNMPD1" "chromosome 20 open reading frame 152|cyclic nucleotide (cNMP) binding domain containing 1" 2001-07-17 2012-11-15 2012-11-15 2012-11-15 140894 ENSG00000149646 OTTHUMG00000032371 uc002xer.1 AL359828 NM_080834 "CCDS56189|CCDS77575|CCDS13270" Q96M20 11780052 MGI:1918123 RGD:1311678 HGNC:16145 "ENST00000373973.7|NM_001365709.1" +HGNC:13164 CNBP CCHC-type zinc finger nucleic acid binding protein protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "RNF163|ZCCHC22|CNBP1" "DM2|ZNF9" "zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)|zinc finger protein 9|CCHC-type zinc finger, nucleic acid binding protein" "Ring finger proteins|Zinc fingers CCHC-type" "58|74" 1989-12-11 2006-06-29 2016-04-04 2016-10-05 7555 ENSG00000169714 OTTHUMG00000159943 uc003elq.5 U19765 NM_003418 "CCDS3056|CCDS54637|CCDS46907|CCDS46908|CCDS46906" P62633 "2249857|11486088" MGI:88431 RGD:621807 CNBP 116955 120657 HGNC:13164 "ENST00000422453.7|NM_003418.5" HGNC:13164 +HGNC:20675 CNDP1 carnosine dipeptidase 1 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "MGC10825|CN1|CPGL2|HsT2308" "carnosinase 1|glutamate carboxypeptidase-like protein 2|beta-Ala-His dipeptidase" carnosine dipeptidase 1 (metallopeptidase M20 family) M20 metallopeptidases 1443 2004-04-14 2016-05-20 2016-05-20 84735 ENSG00000150656 OTTHUMG00000132852 uc002llq.5 NM_032649 CCDS12007 Q96KN2 12473676 MGI:2451097 RGD:1359493 609064 M20.006 objectId:1603 3.4.13.20 HGNC:20675 "ENST00000358821.8|NM_032649.6" +HGNC:24437 CNDP2 carnosine dipeptidase 2 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "FLJ10830|CN2|HsT2298|CPGL" "cytosolic nonspecific dipeptidase|carnosine dipeptidase II|carnosinase-2" PEPA "peptidase A|CNDP dipeptidase 2 (metallopeptidase M20 family)" M20 metallopeptidases 1443 2004-04-14 2017-03-23 2017-03-23 55748 ENSG00000133313 OTTHUMG00000132853 uc002llm.3 AK001692 NM_018235 "CCDS54190|CCDS12006" Q96KP4 12473676 MGI:1913304 RGD:1305827 169800 objectId:1604 3.4.13.18 HGNC:24437 "ENST00000324262.9|NM_018235.3" +HGNC:26759 CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "FLJ38101|NEP1-R1" nuclear envelope phosphatase 1-regulatory subunit 1 "C16orf69|TMEM188" "chromosome 16 open reading frame 69|transmembrane protein 188" 2006-04-07 2012-02-01 2012-02-01 2016-11-16 255919 ENSG00000205423 OTTHUMG00000173447 uc002efu.5 AK095420 NM_153261 "CCDS61931|CCDS45480" Q8N9A8 22134922 MGI:1921981 RGD:1308816 616869 HGNC:26759 "ENST00000427478.7|NM_001281789.2" +HGNC:55037 CNEP1R1P1 CNEP1R1 pseudogene 1 pseudogene pseudogene Approved Xq22.2 Xq22.2 2020-06-03 2020-06-03 100130176 ENSG00000180284 NG_030298 +HGNC:30183 CNFN cornifelin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 PLAC8L2 2004-07-23 2016-10-05 84518 ENSG00000105427 OTTHUMG00000182813 uc002otp.5 AB049591 NM_032488 CCDS12606 Q9BYD5 MGI:1919633 RGD:1563577 611764 HGNC:30183 "ENST00000222032.10|NM_032488.4" +HGNC:2148 CNGA1 cyclic nucleotide gated channel subunit alpha 1 protein-coding gene gene with protein product Approved 4p12 04p12 "RCNC1|RCNCa|CNG1|RP49" cGMP-gated cation channel alpha-1 "CNCG1|CNCG" cyclic nucleotide gated channel alpha 1 Cyclic nucleotide gated channels 250 2001-06-22 2019-06-18 2021-05-26 1259 ENSG00000198515 OTTHUMG00000160668 uc062wkc.1 M84741 NM_000087 "CCDS43226|CCDS47050" P29973 "7683629|16382102" MGI:88436 RGD:621815 Mutations of the Cyclic Nucleotide-gated Cation Channel|http://www.retina-international.org/files/sci-news/cnga1mut.htm 123825 120664 objectId:394 HGNC:2148 "ENST00000514170.7|NM_001379270.1" HGNC:2148 +HGNC:2149 CNGA2 cyclic nucleotide gated channel subunit alpha 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "CNG2|OCNC1|OCNCa|OCNCALPHA|OCNCalpha|FLJ46312" "CNCA1|CNCA" cyclic nucleotide gated channel alpha 2 Cyclic nucleotide gated channels 250 1991-06-05 2019-06-18 2021-05-26 1260 ENSG00000183862 OTTHUMG00000024173 uc065bqd.1 S76067 NM_005140 CCDS14701 Q16280 "7532814|16382102" MGI:108040 RGD:2367 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CNGA2 300338 441279 objectId:395 HGNC:2149 "ENST00000329903.5|NM_005140.3" HGNC:2149 +HGNC:2150 CNGA3 cyclic nucleotide gated channel subunit alpha 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "CCNC1|CCNCa|CNG3" "CNCG3|ACHM2" cyclic nucleotide gated channel alpha 3 Cyclic nucleotide gated channels 250 1994-12-20 2019-06-18 2021-05-26 1261 ENSG00000144191 OTTHUMG00000130561 uc002syt.4 S76069 NM_001298 "CCDS42719|CCDS2034" Q16281 "7532814|9517456|16382102" MGI:1341818 RGD:70948 Mutations of the Cone Cyclic Nucleotide-gated Cation Channel|http://www.retina-international.org/files/sci-news/cnga3mut.htm 600053 120671 objectId:396 HGNC:2150 "ENST00000272602.7|NM_001298.3" HGNC:2150 +HGNC:2152 CNGA4 cyclic nucleotide gated channel subunit alpha 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "OCNC2|OCNCb|CNG5" "CNCA2|CNGB2" "cyclic nucleotide gated channel beta 2|cyclic nucleotide gated channel alpha 4" Cyclic nucleotide gated channels 250 1994-12-20 2002-01-18 2019-06-18 2019-08-20 1262 ENSG00000132259 OTTHUMG00000165379 uc001mco.4 AK122736 NM_001037329 CCDS31408 Q8IV77 "11764791|16382102" MGI:2664099 RGD:619844 609472 objectId:397 HGNC:2152 "ENST00000379936.3|NM_001037329.4" +HGNC:2151 CNGB1 cyclic nucleotide gated channel subunit beta 1 protein-coding gene gene with protein product Approved 16q21 16q21 "RCNC2|RCNCb|GARP|GAR1|CNGB1B|RP45" "glutamic acid-rich protein|cyclic nucleotide-gated cation channel beta-1" "CNCG2|CNCG3L" cyclic nucleotide gated channel beta 1 Cyclic nucleotide gated channels 250 1994-12-20 2019-06-18 2021-05-26 1258 ENSG00000070729 OTTHUMG00000154810 uc002emt.3 AF042498 NM_001297 "CCDS67042|CCDS42169|CCDS45495" Q14028 "8766832|7590744|16382102" MGI:2664102 RGD:621809 600724 159434 objectId:398 HGNC:2151 "ENST00000251102.13|NM_001297.5" HGNC:2151 +HGNC:2153 CNGB3 cyclic nucleotide gated channel subunit beta 3 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "ACHM3|ACHM1|RMCH" "achromatopsia (rod monochromacy) 3|achromatopsia (rod monochromacy) 1|cyclic nucleotide gated channel beta 3" Cyclic nucleotide gated channels 250 2000-07-12 2019-06-18 2021-05-26 54714 ENSG00000170289 OTTHUMG00000163738 uc003ydx.3 AF228520 NM_019098 CCDS6244 Q9NQW8 "10888875|10958649|16382102" MGI:1353562 RGD:1565364 605080 120678 objectId:399 HGNC:2153 "ENST00000320005.6|NM_019098.5" HGNC:2153 +HGNC:19431 CNIH1 cornichon family AMPA receptor auxiliary protein 1 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "TGAM77|CNIL" CNIH cornichon homolog (Drosophila) 2002-11-28 2013-08-28 2013-08-28 2016-10-05 10175 ENSG00000100528 OTTHUMG00000152335 AF031379 NM_005776 CCDS9717 O95406 10209299 MGI:1277202 RGD:1312030 611287 HGNC:19431 "ENST00000216416.9|NM_005776.3" +HGNC:28744 CNIH2 cornichon family AMPA receptor auxiliary protein 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "MGC50896|Cnil|CNIH-2" cornichon homolog 2 (Drosophila) 2004-11-15 2013-08-28 2015-09-11 254263 ENSG00000174871 OTTHUMG00000166919 uc001ohi.3 BC047953 NM_182553 CCDS8131 Q6PI25 24853943 MGI:1277225 RGD:1304930 611288 HGNC:28744 "ENST00000311445.7|NM_182553.3" +HGNC:26802 CNIH3 cornichon family AMPA receptor auxiliary protein 3 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "FLJ38993|CNIH-3" cornichon homolog 3 (Drosophila) 2004-11-15 2013-08-28 2015-09-11 149111 ENSG00000143786 OTTHUMG00000037634 uc001hos.2 AF070524 NM_152495 CCDS1544 Q8TBE1 "8619474|9110174" MGI:1920228 RGD:1582859 HGNC:26802 "ENST00000272133.4|NM_152495.2" +HGNC:41163 CNIH3-AS1 CNIH3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 Antisense RNAs 1987 2019-07-25 2019-07-25 105373106 ENSG00000229400 OTTHUMG00000037717 XR_001738492 HGNC:41163 +HGNC:41162 CNIH3-AS2 CNIH3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 Antisense RNAs 1987 2019-07-25 2019-07-25 102723817 ENSG00000233384 OTTHUMG00000037718 XR_001738493 HGNC:41162 +HGNC:25013 CNIH4 cornichon family AMPA receptor auxiliary protein 4 protein-coding gene gene with protein product Approved 1q42.11 01q42.11 HSPC163 cornichon homolog 4 (Drosophila) 2005-06-23 2013-08-28 2016-10-05 29097 ENSG00000143771 OTTHUMG00000037635 uc001hom.3 NM_014184 "CCDS60429|CCDS1543|CCDS60430" Q9P003 11042152 MGI:1925828 RGD:1559740 617483 HGNC:25013 "ENST00000465271.6|NM_014184.4" +HGNC:19700 CNKSR1 connector enhancer of kinase suppressor of Ras 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "CNK1|KSR|CNK" "Pleckstrin homology domain containing|Sterile alpha motif domain containing|PDZ domain containing" "682|760|1220" 2004-05-27 2021-05-26 10256 ENSG00000142675 OTTHUMG00000007541 uc001blm.5 AF100153 NM_006314 "CCDS76124|CCDS72732|CCDS276" Q969H4 9814705 MGI:2670958 RGD:1311879 603272 HGNC:19700 "ENST00000361530.11|NM_006314.3" HGNC:19700 +HGNC:19701 CNKSR2 connector enhancer of kinase suppressor of Ras 2 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "KIAA0902|CNK2|KSR2" "Pleckstrin homology domain containing|Sterile alpha motif domain containing|PDZ domain containing" "682|760|1220" 2004-05-27 2021-05-26 22866 ENSG00000149970 OTTHUMG00000021233 uc011mjo.3 AB020709 NM_014927 "CCDS55387|CCDS14198|CCDS87731|CCDS55388|CCDS87728|CCDS55389|CCDS87730|CCDS87729" Q8WXI2 MGI:2661175 RGD:708454 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CNKSR2 300724 449961 HGNC:19701 "ENST00000379510.5|NM_014927.5" HGNC:19701 +HGNC:23034 CNKSR3 CNKSR family member 3 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 FLJ31349 MAGI1 membrane associated guanylate kinase interacting protein-like 1 "Sterile alpha motif domain containing|PDZ domain containing" "760|1220" 2003-11-26 2005-04-11 2005-04-11 2015-09-11 154043 ENSG00000153721 OTTHUMG00000015873 uc021zhc.2 AK055911 NM_173515 CCDS5246 Q6P9H4 MGI:2674130 RGD:1307544 617476 HGNC:23034 "ENST00000607772.6|NM_173515.4" +HGNC:17005 CNMD chondromodulin protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "CHM-I|CHM1|BRICD3" BRICHOS domain containing 3 "MYETS1|LECT1" "multiple myeloma tumor suppressor 1|leukocyte cell derived chemotaxin 1" BRICHOS domain containing 457 2003-02-18 2016-10-20 2016-10-20 2016-10-20 11061 ENSG00000136110 OTTHUMG00000016980 uc001vhf.4 AB006000 NM_001011705 "CCDS45051|CCDS9437" O75829 "9731231|10103018" MGI:1341171 RGD:620176 605147 HGNC:17005 "ENST00000377962.8|NM_007015.3" +HGNC:2155 CNN1 calponin 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "SMCC|Sm-Calp" calponin 1, basic, smooth muscle 1996-08-16 2016-01-19 2016-01-19 1264 ENSG00000130176 OTTHUMG00000182033 uc002msc.2 U37019 NM_001299 "CCDS77238|CCDS12263" P51911 "8526917|9332369" MGI:104979 RGD:621883 600806 HGNC:2155 "ENST00000252456.7|NM_001299.6" +HGNC:2156 CNN2 calponin 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 1996-08-16 2014-11-19 1265 ENSG00000064666 OTTHUMG00000172729 uc002lqu.4 D83735 NM_004368 "CCDS77205|CCDS77204|CCDS12053|CCDS12054" Q99439 8889829 MGI:105093 RGD:1589807 602373 HGNC:2156 "ENST00000263097.9|NM_004368.4" +HGNC:39526 CNN2P1 calponin 2 pseudogene 1 pseudogene pseudogene Approved 22q12.2 22q12.2 2011-02-18 2011-02-18 646467 ENSG00000227201 OTTHUMG00000151269 NG_022869 PGOHUM00000246304 HGNC:39526 +HGNC:39527 CNN2P2 calponin 2 pseudogene 2 pseudogene pseudogene Approved 9p11.2 09p11.2 2011-02-18 2016-10-05 642888 ENSG00000227069 OTTHUMG00000067498 NG_021614 PGOHUM00000236077 HGNC:39527 +HGNC:39528 CNN2P3 calponin 2 pseudogene 3 pseudogene pseudogene Approved 9q13 09q13 2011-02-18 2016-10-05 392343 ENSG00000235832 OTTHUMG00000013328 NG_021622 PGOHUM00000236180 HGNC:39528 +HGNC:39529 CNN2P4 calponin 2 pseudogene 4 pseudogene pseudogene Approved 9p11.1 09p11.1 CNN2P5 calponin 2 pseudogene 5 2011-02-18 2014-11-18 647507 ENSG00000213816 OTTHUMG00000066793 NG_021653 PGOHUM00000236524 HGNC:39529 +HGNC:39531 CNN2P6 calponin 2 pseudogene 6 pseudogene pseudogene Approved 3p23 03p23 2011-02-18 2011-02-18 339897 ENSG00000213854 OTTHUMG00000155812 NG_022198 PGOHUM00000237568 HGNC:39531 +HGNC:39532 CNN2P7 calponin 2 pseudogene 7 pseudogene pseudogene Approved 21q11.2 21q11.2 2011-02-18 2013-09-05 391266 ENSG00000215562 OTTHUMG00000074231 NG_021996 PGOHUM00000239136 HGNC:39532 +HGNC:39533 CNN2P8 calponin 2 pseudogene 8 pseudogene pseudogene Approved 2q11.1 02q11.1 2011-02-18 2011-02-18 205272 ENSG00000213355 OTTHUMG00000155130 NG_021570 PGOHUM00000240777 HGNC:39533 +HGNC:39534 CNN2P9 calponin 2 pseudogene 9 pseudogene pseudogene Approved 6q21 06q21 2011-02-18 2011-02-18 441166 ENSG00000213149 OTTHUMG00000016267 NG_022902 PGOHUM00000243738 HGNC:39534 +HGNC:39535 CNN2P10 calponin 2 pseudogene 10 pseudogene pseudogene Approved 1q24.1 01q24.1 2011-02-18 2011-02-18 646693 ENSG00000232223 OTTHUMG00000034318 NG_022816 PGOHUM00000245068 HGNC:39535 +HGNC:39536 CNN2P11 calponin 2 pseudogene 11 pseudogene pseudogene Approved 2q11.1 02q11.1 2011-02-18 2012-03-02 100689296 ENSG00000237383 OTTHUMG00000155140 NG_029997 PGOHUM00000240182 HGNC:39536 +HGNC:39834 CNN2P12 calponin 2 pseudogene 12 pseudogene pseudogene Approved 13q11 13q11 2011-03-30 2012-10-16 100131550 ENSG00000204718 OTTHUMG00000016462 NG_021966 PGOHUM00000262204 HGNC:39834 +HGNC:2157 CNN3 calponin 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 calponin 3, acidic 1996-08-16 2016-01-19 2016-10-05 1266 ENSG00000117519 OTTHUMG00000010783 uc001dqz.6 BC025372 NM_001839 "CCDS65593|CCDS65592|CCDS30775" Q15417 8526917 MGI:1919244 RGD:71044 602374 HGNC:2157 "ENST00000370206.9|NM_001839.5" +HGNC:54176 CNN3-DT CNN3 divergent transcript non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Divergent transcripts 1990 2020-07-02 2020-07-02 729970 ENSG00000235501 NR_033998 +HGNC:38666 CNN3P1 calponin 3 pseudogene 1 pseudogene pseudogene Approved 6p25.1 06p25.1 calponin 3, acidic pseudogene 1 2010-07-08 2016-01-19 2016-01-19 643875 ENSG00000218868 OTTHUMG00000014189 NG_022343 PGOHUM00000243479 HGNC:38666 +HGNC:102 CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 ACDP1 cyclin M1 Cyclin and CBS domain divalent metal cation transport mediators 1801 1999-12-07 2014-08-07 2020-09-17 26507 ENSG00000119946 OTTHUMG00000018881 uc001kpp.6 AF169226 NM_020348 CCDS7478 Q9NRU3 21393841 MGI:1891366 RGD:1308728 607802 HGNC:102 "ENST00000356713.5|NM_020348.3" +HGNC:103 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 ACDP2 cyclin M2 Cyclin and CBS domain divalent metal cation transport mediators 1801 1999-12-07 2014-08-07 2021-05-26 54805 ENSG00000148842 OTTHUMG00000018976 uc001kwm.4 AF216962 NM_017649 "CCDS7543|CCDS44474|CCDS44475" Q9H8M5 "21393841|24699222" MGI:2151054 RGD:1308162 607803 311068 HGNC:103 "ENST00000369878.9|NM_017649.5" HGNC:103 +HGNC:104 CNNM3 cyclin and CBS domain divalent metal cation transport mediator 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 ACDP3 cyclin M3 Cyclin and CBS domain divalent metal cation transport mediators 1801 1999-12-07 2014-08-07 2020-09-17 26505 ENSG00000168763 OTTHUMG00000130531 uc002swy.4 AF216965 NM_017623 "CCDS2026|CCDS2025" Q8NE01 "21393841|24632616" MGI:2151055 RGD:1307926 607804 HGNC:104 "ENST00000305510.4|NM_017623.5" +HGNC:53592 CNNM3-DT CNNM3 divergent transcript non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 LOC100506036 Divergent transcripts 1990 2017-08-03 2017-08-03 2017-08-03 100506036 ENSG00000273265 OTTHUMG00000186027 NR_149141 26616293 HGNC:53592 +HGNC:105 CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 KIAA1592 ACDP4 cyclin M4 "MicroRNA protein coding host genes|Cyclin and CBS domain divalent metal cation transport mediators" "1691|1801" 1999-12-07 2014-08-07 2021-05-26 26504 ENSG00000158158 OTTHUMG00000130532 uc002swx.3 AB046812 NM_020184 CCDS2024 Q6P4Q7 "21393841|24194943" MGI:2151060 RGD:1305571 607805 178795 HGNC:105 "ENST00000377075.3|NM_020184.4" HGNC:105 +HGNC:7877 CNOT1 CCR4-NOT transcription complex subunit 1 protein-coding gene gene with protein product Approved 16q21 16q21 "CDC39|NOT1H|KIAA1007|AD-005" NOT1 CCR4-NOT transcription complex, subunit 1 "CCR4-NOT transcription complex|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes|MIF4G domain containing proteins" "1023|1492|1835|2128" 1996-07-19 2015-11-12 2021-05-26 23019 ENSG00000125107 OTTHUMG00000133487 uc002env.5 AL833549 NM_016284 "CCDS45501|CCDS10799|CCDS58468" A5YKK6 14702039 MGI:2442402 RGD:1308009 604917 HGNC:7877 "ENST00000317147.10|NM_016284.5" HGNC:7877 +HGNC:7878 CNOT2 CCR4-NOT transcription complex subunit 2 protein-coding gene gene with protein product Approved 12q15 12q15 "CDC36|NOT2H" NOT2 CCR4-NOT transcription complex, subunit 2 CCR4-NOT transcription complex 1023 1996-07-19 2015-11-12 2019-08-20 4848 ENSG00000111596 OTTHUMG00000169481 uc001svv.4 AF180473 NM_001199302 CCDS31857 Q9NZN8 10637334 MGI:1919318 RGD:1311672 604909 HGNC:7878 "ENST00000229195.8|NM_014515.7" HGNC:7878 +HGNC:7879 CNOT3 CCR4-NOT transcription complex subunit 3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "NOT3H|KIAA0691|LENG2" NOT3 (negative regulator of transcription 3, yeast) homolog NOT3 CCR4-NOT transcription complex, subunit 3 CCR4-NOT transcription complex 1023 1996-07-19 2015-11-12 2021-05-26 4849 ENSG00000088038 OTTHUMG00000066468 uc002qdj.3 AF180474 NM_014516 CCDS12880 O75175 "10637334|9734811" MGI:2385261 RGD:1304771 CNOT3 604910 352239 HGNC:7879 "ENST00000221232.11|NM_014516.4" HGNC:7879 +HGNC:7880 CNOT4 CCR4-NOT transcription complex subunit 4 protein-coding gene gene with protein product Approved 7q33 07q33 "CLONE243|NOT4H" NOT4 CCR4-NOT transcription complex, subunit 4 "Ring finger proteins|RNA binding motif containing|CCR4-NOT transcription complex" "58|725|1023" 1996-07-19 2015-11-12 2017-12-01 4850 ENSG00000080802 OTTHUMG00000155568 uc003vss.4 AF180475 NM_013316 "CCDS47719|CCDS55164|CCDS43650|CCDS55167|CCDS55165|CCDS55166" O95628 "10637334|18533727" MGI:1859026 RGD:1310318 604911 HGNC:7880 "ENST00000541284.6|NM_001190850.2" +HGNC:39272 CNOT4P1 CCR4-NOT transcription complex subunit 4 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 CCR4-NOT transcription complex, subunit 4 pseudogene 1 2010-11-24 2015-11-12 2015-11-12 100874389 ENSG00000236704 OTTHUMG00000016522 NG_032240 PGOHUM00000248317 HGNC:39272 +HGNC:14099 CNOT6 CCR4-NOT transcription complex subunit 6 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "CCR4|KIAA1194|Ccr4a" CCR4-NOT transcription complex, subunit 6 CCR4-NOT transcription complex 1023 2001-03-30 2015-11-12 2015-11-12 57472 ENSG00000113300 OTTHUMG00000130935 uc010jld.4 AB033020 NM_015455 CCDS4455 Q9ULM6 11889047 MGI:2144529 RGD:1310783 608951 HGNC:14099 "ENST00000261951.9|NM_001370472.1" +HGNC:18042 CNOT6L CCR4-NOT transcription complex subunit 6 like protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "DKFZp434K098|Ccr4b" CCR4-NOT transcription complex, subunit 6-like CCR4-NOT transcription complex 1023 2002-05-23 2016-02-29 2016-10-05 246175 ENSG00000138767 OTTHUMG00000160832 uc011ccd.4 AL133112 NM_001286790 CCDS68731 Q96LI5 MGI:2443154 RGD:1309128 618069 HGNC:18042 "ENST00000504123.7|NM_144571.3" +HGNC:32355 CNOT6LP1 CNOT6L pseudogene 1 pseudogene pseudogene Approved 15q21.3 15q21.3 CCR4-NOT transcription complex, subunit 6-like pseudogene 1 2006-01-17 2019-02-18 2019-02-18 729530 ENSG00000230183 OTTHUMG00000172614 AC039057 NG_009481 PGOHUM00000251182 HGNC:32355 +HGNC:14101 CNOT7 CCR4-NOT transcription complex subunit 7 protein-coding gene gene with protein product Approved 8p22 08p22 BTG1 binding factor 1 CAF1 CCR4-NOT transcription complex, subunit 7 CCR4-NOT transcription complex 1023 2000-12-01 2015-11-12 2016-10-05 29883 ENSG00000198791 OTTHUMG00000096971 uc003wxg.2 L46722 NM_013354 "CCDS6000|CCDS55202" Q9UIV1 "10637334|1538749|17264152" MGI:1298230 RGD:1305313 604913 HGNC:14101 "ENST00000361272.9|NM_013354.7" +HGNC:44248 CNOT7P1 CCR4-NOT transcription complex subunit 7 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 CCR4-NOT transcription complex, subunit 7 pseudogene 1 2012-07-25 2015-11-12 2015-11-12 100421338 ENSG00000233229 OTTHUMG00000021759 NG_026715 PGOHUM00000241370 HGNC:44248 +HGNC:44249 CNOT7P2 CCR4-NOT transcription complex subunit 7 pseudogene 2 pseudogene pseudogene Approved 1p13.1 01p13.1 CCR4-NOT transcription complex, subunit 7 pseudogene 2 2012-07-25 2015-11-12 2015-11-12 100132332 ENSG00000232185 OTTHUMG00000011973 NG_030209 PGOHUM00000244864 HGNC:44249 +HGNC:9207 CNOT8 CCR4-NOT transcription complex subunit 8 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "CAF1|hCAF1|CALIF" PGK promoter directed over production POP2 CCR4-NOT transcription complex, subunit 8 CCR4-NOT transcription complex 1023 1998-09-25 2015-11-12 2016-10-05 9337 ENSG00000155508 OTTHUMG00000130192 uc003lvu.4 AF053318 NM_004779 "CCDS78075|CCDS75361|CCDS4329|CCDS78074" Q9UFF9 "10036195|10637334" MGI:1916375 RGD:1306401 603731 HGNC:9207 "ENST00000285896.11|NM_001301073.2" +HGNC:10445 CNOT9 CCR4-NOT transcription complex subunit 9 protein-coding gene gene with protein product Approved 2q35 02q35 "RCD1|RCD1+|CT129|CAF40" cancer/testis antigen 129 RQCD1 "rcd1 (required for cell differentiation, S.pombe) homolog 1|RCD1 required for cell differentiation1 homolog (S. pombe)" "CCR4-NOT transcription complex|Armadillo like helical domain containing" "1023|1492" 1999-11-22 2016-04-12 2016-04-12 2020-11-17 9125 ENSG00000144580 OTTHUMG00000154750 uc010zkh.4 D87957 NM_005444 "CCDS63122|CCDS63123|CCDS33379" Q92600 9447985 MGI:1928902 RGD:1311495 612054 HGNC:10445 "ENST00000273064.11|NM_005444.3" +HGNC:23817 CNOT10 CCR4-NOT transcription complex subunit 10 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "FLJ12890|FLJ13165" CCR4-NOT transcription complex, subunit 10 "Tetratricopeptide repeat domain containing|CCR4-NOT transcription complex" "769|1023" 2003-12-11 2015-11-12 2016-10-05 25904 ENSG00000182973 OTTHUMG00000130748 uc003cfc.2 BC002928 NM_015442 "CCDS58822|CCDS2655|CCDS58821" Q9H9A5 MGI:1926143 RGD:1359219 HGNC:23817 "ENST00000328834.10|NM_015442.3" +HGNC:41031 CNOT10-AS1 CNOT10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.3 03p22.3 CNOT10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874109 ENSG00000251224 OTTHUMG00000162550 uc062hvr.1 CNOT10-AS1 +HGNC:25217 CNOT11 CCR4-NOT transcription complex subunit 11 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 C40 C2orf29 "chromosome 2 open reading frame 29|CCR4-NOT transcription complex, subunit 11" CCR4-NOT transcription complex 1023 2004-05-10 2013-01-24 2015-11-12 2017-07-11 55571 ENSG00000158435 OTTHUMG00000130686 uc002taw.5 AF103798 NM_017546 CCDS2050 Q9UKZ1 "10497265|23232451|23303381" MGI:106580 RGD:1560909 HGNC:25217 "ENST00000289382.8|NM_017546.5" +HGNC:2158 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase protein-coding gene gene with protein product Approved 17q21.2 17q21.2 1991-07-15 2016-10-05 1267 ENSG00000173786 OTTHUMG00000133502 uc002hyl.2 NM_001330216 "CCDS82123|CCDS11414" P09543 1322358 MGI:88437 RGD:2368 123830 3.1.4.37 HGNC:2158 "ENST00000393892.8|NM_033133.5" HGNC:2158 +HGNC:25220 CNPPD1 cyclin Pas1/PHO80 domain containing 1 protein-coding gene gene with protein product Approved 2q35 02q35 CGI-57 C2orf24 chromosome 2 open reading frame 24 2004-04-29 2011-03-23 2011-03-23 2016-10-05 27013 ENSG00000115649 OTTHUMG00000133132 uc002vjv.4 AF070638 NM_015680 CCDS2433 Q9BV87 "8619474|9110174" MGI:1916421 RGD:735175 HGNC:25220 "ENST00000360507.10|NM_015680.6" +HGNC:27786 CNPY1 canopy FGF signaling regulator 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 canopy 1 homolog (zebrafish) 2006-12-04 2013-07-23 2018-11-15 285888 ENSG00000146910 OTTHUMG00000151353 uc064jov.1 NM_001103176 CCDS43684 Q3B7I2 16488878 MGI:2442451 RGD:1583296 612493 HGNC:27786 "ENST00000636446.2|NM_001393663.1" +HGNC:13529 CNPY2 canopy FGF signaling regulator 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "HP10390|ZSIG9" TMEM4 "transmembrane protein 4|canopy 2 homolog (zebrafish)" 2000-09-20 2007-10-22 2013-07-23 2020-04-30 10330 ENSG00000257727 OTTHUMG00000170330 uc001sku.3 AB015631 NM_014255 CCDS8914 Q9Y2B0 "10072769|15905959" MGI:1928477 RGD:1589072 605861 HGNC:13529 "ENST00000273308.9|NM_014255.7" +HGNC:55480 CNPY2-AS1 CNPY2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.3 12q13.3 Antisense RNAs 1987 2021-03-11 2021-03-11 112268098 ENSG00000257303 XR_002957416 +HGNC:11968 CNPY3 canopy FGF signaling regulator 3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 CAG4A TNRC5 "trinucleotide repeat containing 5|canopy 3 homolog (zebrafish)" 2000-01-27 2007-10-22 2013-07-23 2021-05-26 10695 ENSG00000137161 OTTHUMG00000014708 uc003ota.5 U80744 NM_006586 CCDS4875 Q9BT09 9225980 MGI:1919279 RGD:1597709 610774 HGNC:11968 "ENST00000372836.5|NM_006586.5" HGNC:11968 +HGNC:28631 CNPY4 canopy FGF signaling regulator 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC40499|PRAT4B" protein associated with TLR4 canopy 4 homolog (zebrafish) 2007-10-22 2013-07-23 2015-09-11 245812 ENSG00000166997 OTTHUMG00000154817 uc003uto.4 AK075537 NM_152755 CCDS34701 Q8N129 12975309 MGI:1913705 RGD:1307636 610047 HGNC:28631 "ENST00000262932.5|NM_152755.2" +HGNC:2159 CNR1 cannabinoid receptor 1 protein-coding gene gene with protein product Approved 6q15 06q15 "CB1K5|CB-R|CB1|CANN6|CB1A" CNR cannabinoid receptor 1 (brain) Cannabinoid receptors 202 1991-05-15 2016-07-01 2016-10-05 1268 ENSG00000118432 OTTHUMG00000015184 uc003pmq.5 AF107262 NM_001160226 "CCDS5015|CCDS5016" P21554 MGI:104615 RGD:2369 114610 objectId:56 HGNC:2159 "ENST00000369501.3|NM_016083.6" +HGNC:2160 CNR2 cannabinoid receptor 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CB2 cannabinoid receptor 2 (macrophage) Cannabinoid receptors 202 1994-01-10 2015-11-06 2016-10-05 1269 ENSG00000188822 OTTHUMG00000013892 uc001bif.4 X74328 NM_001841 CCDS245 P34972 MGI:104650 RGD:619713 605051 objectId:57 HGNC:2160 "ENST00000374472.5|NM_001841.3" +HGNC:24546 CNRIP1 cannabinoid receptor interacting protein 1 protein-coding gene gene with protein product Approved 2p14 02p14 "DKFZP566K1924|CRIP1|CRIP1a|CRIP1b" C2orf32 chromosome 2 open reading frame 32 2004-06-01 2007-11-29 2007-11-29 2016-10-05 25927 ENSG00000119865 OTTHUMG00000129565 uc002sek.5 AL110235 NM_015463 "CCDS46311|CCDS1886" Q96F85 20590557 MGI:1917505 RGD:1308373 618538 HGNC:24546 "ENST00000263655.4|NM_015463.3" HGNC:24546 +HGNC:26486 CNST consortin, connexin sorting protein protein-coding gene gene with protein product Approved 1q44 01q44 "FLJ32001|PPP1R64" protein phosphatase 1, regulatory subunit 64 C1orf71 chromosome 1 open reading frame 71 Protein phosphatase 1 regulatory subunits 694 2005-05-18 2009-11-03 2009-11-03 2015-08-24 163882 ENSG00000162852 OTTHUMG00000040090 uc001ibp.4 AK056563 NM_152609 "CCDS1628|CCDS44343" Q6PJW8 19864490 MGI:2445141 RGD:1564833 613439 HGNC:26486 "ENST00000366513.9|NM_152609.3" +HGNC:26847 CNTD1 cyclin N-terminal domain containing 1 protein-coding gene gene with protein product Approved 17q21.2-q21.31 17q21.2-q21.31 FLJ40137 CNTD cyclin N-terminal domain containing 2005-12-16 2006-03-31 2006-03-31 2018-02-13 124817 ENSG00000176563 OTTHUMG00000180652 uc002ibm.5 AK097456 NM_173478 "CCDS82131|CCDS11440" Q8N815 24891606 MGI:1923965 RGD:1564542 618166 HGNC:26847 "ENST00000588408.6|NM_173478.3" +HGNC:2169 CNTF ciliary neurotrophic factor protein-coding gene gene with protein product Approved 11q12.1 11q12.1 HCNTF Ciliary Neuronotrophic Factor Interleukin 6 type cytokine family 1264 1991-01-07 2020-01-15 1270 ENSG00000242689 OTTHUMG00000137476 uc001nna.5 BC068030 NM_000614 CCDS31554 P26441 "1840538|1714745" MGI:88439 RGD:2370 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 118945 ligandId:4897 HGNC:2169 "ENST00000361987.6|NM_000614.4" +HGNC:2170 CNTFR ciliary neurotrophic factor receptor protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "Fibronectin type III domain containing|Immunoglobulin like domain containing" "555|594" 1992-09-22 2016-10-05 1271 ENSG00000122756 OTTHUMG00000019821 uc022bgg.2 M73238 NM_001207011 CCDS6558 P26992 1648265 MGI:99605 RGD:1303100 118946 objectId:1711 HGNC:2170 "ENST00000378980.8|NM_147164.3" +HGNC:48712 CNTFR-AS1 CNTFR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p13.3 09p13.3 Antisense RNAs 1987 2013-06-07 2013-06-07 415056 ENSG00000237159 OTTHUMG00000000441 "BC038740|BC042806" NR_024369 CNTFR-AS1 HGNC:48712 +HGNC:23432 CNTLN centlein protein-coding gene gene with protein product Approved 9p22.2 09p22.2 "FLJ20276|bA340N12.1|OTTHUMG00000019597" "C9orf101|C9orf39" "chromosome 9 open reading frame 101|chromosome 9 open reading frame 39|centlein, centrosomal protein" 2003-11-18 2008-02-08 2015-11-27 2016-10-05 54875 ENSG00000044459 OTTHUMG00000019599 uc003zmy.5 AK000283 NM_017738 "CCDS43789|CCDS47953" Q9NXG0 18086554 MGI:2443104 RGD:1308101 611870 HGNC:23432 "ENST00000380647.8|NM_017738.4" +HGNC:2171 CNTN1 contactin 1 protein-coding gene gene with protein product Approved 12q12 12q12 "F3|GP135" glycoprotein gP135 "I-set domain containing|Contactins" "593|1909" 1994-02-18 2021-05-26 1272 ENSG00000018236 OTTHUMG00000169362 uc001rmm.3 Z21488 NM_001843 "CCDS8737|CCDS8738|CCDS58225" Q12860 "7959734|8586965" MGI:105980 RGD:621300 600016 212878 ligandId:6617 HGNC:2171 "ENST00000551295.7|NM_001843.4" HGNC:2171 +HGNC:2172 CNTN2 contactin 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "TAG-1|TAX1" "TAX|AXT" contactin 2 (axonal) "I-set domain containing|Contactins" "593|1909" 2000-05-26 2015-12-10 2021-05-26 6900 ENSG00000184144 OTTHUMG00000037105 uc001hbr.4 X67734 NM_005076 CCDS1449 Q02246 "8307567|8586965" MGI:104518 RGD:3821 190197 332465 HGNC:2172 "ENST00000331830.7|NM_005076.5" HGNC:2172 +HGNC:2173 CNTN3 contactin 3 protein-coding gene gene with protein product Approved 3p12.3 03p12.3 BIG-1 PANG contactin 3 (plasmacytoma associated) "I-set domain containing|Contactins" "593|1909" 2000-05-26 2015-12-10 2015-12-10 5067 ENSG00000113805 OTTHUMG00000158813 uc003dpm.2 AB040929 NM_020872 CCDS33790 Q9P232 "8661054|8586965" MGI:99534 RGD:3253 601325 ligandId:6609 HGNC:2173 "ENST00000263665.7|NM_020872.3" +HGNC:2174 CNTN4 contactin 4 protein-coding gene gene with protein product Approved 3p26.3-p26.2 03p26.3-p26.2 BIG-2 "I-set domain containing|Contactins" "593|1909" 2000-05-26 2021-05-26 152330 ENSG00000144619 OTTHUMG00000119031 uc003bpc.4 AW665944 NM_001206955 "CCDS43041|CCDS2558" Q8IWV2 "8586965|12202991" MGI:1095737 RGD:621361 607280 166392 ligandId:6612 HGNC:2174 "ENST00000418658.6|NM_175607.3" HGNC:2174 +HGNC:39985 CNTN4-AS1 CNTN4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p26.2 03p26.2 CNTN4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873975 ENSG00000237990 OTTHUMG00000154875 uc062gbx.1 NR_046554 CNTN4-AS1 HGNC:39985 +HGNC:39986 CNTN4-AS2 CNTN4 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p26.3 03p26.3 CNTN4 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873976 ENSG00000227588 OTTHUMG00000156185 uc031rye.1 NR_046555 CNTN4-AS2 HGNC:39986 +HGNC:2175 CNTN5 contactin 5 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "NB-2|hNB-2" "I-set domain containing|Contactins" "593|1909" 2000-05-26 2015-08-28 53942 ENSG00000149972 OTTHUMG00000167579 uc001pga.4 AB013802 NM_014361 "CCDS58168|CCDS53696|CCDS53697" O94779 MGI:3042287 RGD:621302 607219 470108 ligandId:6613 HGNC:2175 "ENST00000524871.6|NM_014361.4" +HGNC:2176 CNTN6 contactin 6 protein-coding gene gene with protein product Approved 3p26.3 03p26.3 NB-3 neural adhesion molecule "I-set domain containing|Contactins" "593|1909" 2000-05-26 2021-05-26 27255 ENSG00000134115 OTTHUMG00000119030 uc003boz.5 AB003592 NM_014461 CCDS2557 Q9UQ52 9486763 MGI:1858223 RGD:62008 607220 ligandId:6614 HGNC:2176 "ENST00000446702.7|NM_001289080.2" HGNC:2176 +HGNC:8011 CNTNAP1 contactin associated protein 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "p190|Caspr|CNTNAP" neurexin 4 NRXN4 Contactin associated protein family 1969 1998-10-14 2021-05-26 8506 ENSG00000108797 OTTHUMG00000180643 uc002iay.4 U87223 NM_003632 CCDS11436 P78357 9118959 MGI:1858201 RGD:70902 602346 403662 HGNC:8011 "ENST00000264638.9|NM_003632.3" HGNC:8011 +HGNC:13830 CNTNAP2 contactin associated protein 2 protein-coding gene gene with protein product Approved 7q35-q36.1 07q35-q36.1 "Caspr2|KIAA0868|NRXN4" contactin associated protein like 2 Contactin associated protein family 1969 2001-06-01 2019-10-09 2021-05-26 26047 ENSG00000174469 OTTHUMG00000152743 uc003weu.3 AF193613 NM_014141 CCDS5889 Q9UHC6 "10624965|10048485|27621318" MGI:1914047 RGD:1307076 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=CNTNAP2 604569 165932 HGNC:13830 "ENST00000361727.8|NM_014141.6" HGNC:13830 +HGNC:40657 CNTNAP2-AS1 CNTNAP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q35 07q35 Antisense RNAs 1987 2019-07-25 2019-07-25 101928700 ENSG00000236795 OTTHUMG00000152744 NR_110829 HGNC:40657 +HGNC:13834 CNTNAP3 contactin associated protein family member 3 protein-coding gene gene with protein product Approved 9p12 09p12 "CASPR3|KIAA1714|FLJ14195|CNTNAP3A" cell recognition molecule CASPR3 contactin associated protein like 3 Contactin associated protein family 1969 2004-05-06 2019-10-09 2019-10-09 79937 ENSG00000106714 OTTHUMG00000019954 uc004abi.4 AF333769 NM_033655 CCDS6616 Q9BZ76 12093160 MGI:3588199 RGD:1563615 610517 HGNC:13834 "ENST00000297668.11|NM_033655.5" +HGNC:32035 CNTNAP3B contactin associated protein family member 3B protein-coding gene gene with protein product Approved 9p11.2 09p11.2 contactin associated protein like 3B Contactin associated protein family 1969 2005-08-23 2019-10-09 2019-10-09 728577 ENSG00000154529 OTTHUMG00000013174 uc004abq.3 BX538190 NM_001201380 CCDS75836 Q96NU0 15820314 MGI:3588199 HGNC:32035 "ENST00000377561.7|NM_001201380.3" +HGNC:53878 CNTNAP3C contactin associated protein family member 3C protein-coding gene gene with protein product Approved 9q12 09q12 contactin associated protein like 3C Contactin associated protein family 1969 2018-05-08 2019-10-09 2019-10-09 100289279 ENSG00000283378 OTTHUMG00000191808 XM_011545672 HGNC:53878 +HGNC:49591 CNTNAP3P1 CNTNAP3 pseudogene 1 pseudogene pseudogene Approved 9q13 09q13 contactin associated protein-like 3 pseudogene 1 2014-01-20 2019-02-18 2019-02-18 100420787 ENSG00000273509 OTTHUMG00000187791 NG_023920 PGOHUM00000304254 HGNC:49591 +HGNC:49589 CNTNAP3P2 CNTNAP3 pseudogene 2 pseudogene pseudogene Approved 9q21.11 09q21.11 contactin associated protein-like 3 pseudogene 2 2014-01-20 2019-02-18 2019-02-18 643827 ENSG00000276386 OTTHUMG00000188266 NR_111893 PGOHUM00000304305 HGNC:49589 +HGNC:49580 CNTNAP3P3 CNTNAP3 pseudogene 3 pseudogene pseudogene Approved 9p12 09p12 contactin associated protein-like 3 pseudogene 3 2014-01-20 2019-02-18 2019-02-18 106660623 NG_044948 PGOHUM00000304188 HGNC:49580 +HGNC:49581 CNTNAP3P4 CNTNAP3 pseudogene 4 pseudogene pseudogene Approved 9q12 09q12 contactin associated protein-like 3 pseudogene 4 2014-01-20 2019-02-18 2019-02-18 107403150 NG_046801 PGOHUM00000303846 HGNC:49581 +HGNC:49588 CNTNAP3P5 CNTNAP3 pseudogene 5 pseudogene pseudogene Approved 9q13 09q13 contactin associated protein-like 3 pseudogene 5 2014-01-20 2019-02-18 2019-02-18 100420786 ENSG00000278213 OTTHUMG00000187765 NG_023913 PGOHUM00000304246 HGNC:49588 +HGNC:49583 CNTNAP3P6 CNTNAP3 pseudogene 6 pseudogene pseudogene Approved 9p12 09p12 contactin associated protein-like 3 pseudogene 6 2014-01-20 2019-02-18 2019-02-18 100420776 NG_023817 PGOHUM00000303808 HGNC:49583 +HGNC:49585 CNTNAP3P7 CNTNAP3 pseudogene 7 pseudogene pseudogene Approved 9p11.1 09p11.1 contactin associated protein-like 3 pseudogene 7 2014-01-20 2019-02-18 2021-07-20 100420777 ENSG00000287276 NG_023823 PGOHUM00000304222 HGNC:49585 +HGNC:49586 CNTNAP3P8 CNTNAP3 pseudogene 8 pseudogene pseudogene Approved 9p11.1 09p11.1 contactin associated protein-like 3 pseudogene 8 2014-01-20 2019-02-18 2019-02-18 100420785 NG_023910 PGOHUM00000303837 HGNC:49586 +HGNC:49587 CNTNAP3P9 CNTNAP3 pseudogene 9 pseudogene pseudogene Approved 9q21.11 09q21.11 contactin associated protein-like 3 pseudogene 9 2014-01-20 2019-02-18 2019-02-18 107403148 NG_046800 PGOHUM00000303918 HGNC:49587 +HGNC:18747 CNTNAP4 contactin associated protein family member 4 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "CASPR4|KIAA1763" contactin associated protein-like 4 Contactin associated protein family 1969 2004-05-10 2019-10-09 2019-10-09 85445 ENSG00000152910 OTTHUMG00000137617 uc032efc.1 AB051550 NM_033401 "CCDS73915|CCDS10924|CCDS82015" Q9C0A0 12093160 MGI:2183572 RGD:1306459 610518 HGNC:18747 "ENST00000611870.5|NM_033401.5" +HGNC:18748 CNTNAP5 contactin associated protein family member 5 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "caspr5|FLJ31966" contactin associated protein-like 5 Contactin associated protein family 1969 2004-05-10 2019-10-09 2019-10-09 129684 ENSG00000155052 OTTHUMG00000153356 uc002tno.5 AB077881 NM_001367498 CCDS46401 Q8WYK1 "MGI:3643623|MGI:3646013|MGI:3664583" RGD:1565194 610519 HGNC:18748 "ENST00000682447.1|NM_001367498.1" +HGNC:55794 CNTNAP5-DT CNTNAP5 divergent transcript non-coding RNA RNA, long non-coding Approved 2q14.3 02q14.3 Divergent transcripts 1990 2021-07-29 2021-07-29 107985820 ENSG00000228400 NR_147976 +HGNC:1858 CNTRL centriolin protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "CEP1|CEP110" "centrosomal protein 1|centrosomal protein 110kDa" 2000-06-08 2011-05-23 2011-05-23 2014-11-19 11064 ENSG00000119397 OTTHUMG00000020581 uc064vkk.1 AF513978 NM_007018 "CCDS35118|CCDS83409" Q7Z7A1 10688839 MGI:1889576 RGD:1305317 CNTRL 605496 HGNC:1858 "ENST00000373855.7|NM_007018.6" +HGNC:29616 CNTROB centrobin, centriole duplication and spindle assembly protein protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "LIP8|PP1221" centrobin centrobin, centrosomal BRCA2 interacting protein 2006-01-13 2016-04-18 2020-01-06 116840 ENSG00000170037 OTTHUMG00000172932 uc060axf.1 AF331638 NM_053051 "CCDS32557|CCDS82063|CCDS11126" Q8N137 "11984006|16275750" MGI:2443290 RGD:1307488 611425 HGNC:29616 "ENST00000563694.6|NM_053051.5" +HGNC:21868 COA1 cytochrome c oxidase assembly factor 1 protein-coding gene gene with protein product Approved 7p13 07p13 "FLJ10803|MITRAC15" C7orf44 "chromosome 7 open reading frame 44|cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)|cytochrome c oxidase assembly factor 1 homolog" Mitochondrial respiratory chain complex assembly factors 645 2006-08-21 2012-06-25 2021-04-21 2021-04-21 55744 ENSG00000106603 OTTHUMG00000128949 uc064dcs.1 AK001665 NM_018224 "CCDS83177|CCDS5471" Q9GZY4 "22356826|32320651" 614769 HGNC:21868 "ENST00000223336.11|NM_018224.4" +HGNC:24990 COA3 cytochrome c oxidase assembly factor 3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "HSPC009|MITRAC12|COX25|hCOA3" CCDC56 coiled-coil domain containing 56 Mitochondrial respiratory chain complex assembly factors 645 2006-01-12 2012-08-07 2012-10-15 2021-11-11 28958 ENSG00000183978 OTTHUMG00000180651 uc002ibl.5 AF070665 NM_014019 CCDS32660 Q9Y2R0 "22356826|22610097" MGI:1098757 RGD:1564337 614775 434612 HGNC:24990 "ENST00000328434.8|NM_001040431.3" HGNC:24990 +HGNC:24604 COA4 cytochrome c oxidase assembly factor 4 homolog protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "E2IG2|CMC3" CHCHD8 "coiled-coil-helix-coiled-coil-helix domain containing 8|cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)" "Coiled-coil-helix-coiled-coil-helix domain containing proteins|Mitochondrial respiratory chain complex assembly factors" "489|645" 2005-09-13 2012-10-15 2015-07-02 2016-11-16 51287 ENSG00000181924 OTTHUMG00000168061 uc001ouj.4 AF242180 NM_016565 CCDS8225 Q9NYJ1 "11085516|20624914" MGI:1915435 RGD:1562228 608016 HGNC:24604 "ENST00000355693.5|NM_016565.3" +HGNC:33848 COA5 cytochrome c oxidase assembly factor 5 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "MGC52110|FLJ27524|Pet191" C2orf64 chromosome 2 open reading frame 64 Mitochondrial respiratory chain complex assembly factors 645 2007-12-07 2011-07-19 2012-10-15 2021-05-26 493753 ENSG00000183513 OTTHUMG00000153101 uc002syz.4 NM_001008215 CCDS33257 Q86WW8 21457908 MGI:1923428 RGD:1565095 613920 267102 HGNC:33848 "ENST00000328709.8|NM_001008215.3" HGNC:33848 +HGNC:18025 COA6 cytochrome c oxidase assembly factor 6 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 C1orf31 "chromosome 1 open reading frame 31|cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)" Mitochondrial respiratory chain complex assembly factors 645 2002-02-05 2012-10-15 2014-11-25 2021-05-26 388753 ENSG00000168275 OTTHUMG00000037945 uc057qls.1 NM_001012985 "CCDS55690|CCDS76275|CCDS31059" Q5JTJ3 "22984289|25339201" MGI:1915142 RGD:7559315 614772 422397 HGNC:18025 "ENST00000366615.10|NM_001206641.3" +HGNC:40825 COA6-AS1 COA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Antisense RNAs 1987 2018-09-26 2018-09-26 101927765 ENSG00000231663 NR_125961 HGNC:40825 +HGNC:25716 COA7 cytochrome c oxidase assembly factor 7 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "FLJ12439|RESA1" respiratory chain assembly 1 "C1orf163|SELRC1" "chromosome 1 open reading frame 163|Sel1 repeat containing 1|cytochrome c oxidase assembly factor 7|cytochrome c oxidase assembly factor 7 (putative)" Mitochondrial respiratory chain complex assembly factors 645 2005-07-18 2014-01-03 2020-10-21 2021-05-26 65260 ENSG00000162377 OTTHUMG00000008505 AK022501 NM_023077 CCDS570 Q96BR5 "24333015|27683825|30885959" MGI:1917143 RGD:1305274 615623 HGNC:25716 "ENST00000371538.5|NM_023077.3" HGNC:25716 +HGNC:20492 COA8 cytochrome c oxidase assembly factor 8 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "MGC2562|APOP-1" apoptogenic protein 1 "C14orf153|APOPT1" "chromosome 14 open reading frame 153|apoptogenic 1|apoptogenic 1, mitochondrial" Mitochondrial respiratory chain complex assembly factors 645 2004-06-11 2019-04-09 2019-04-09 2021-05-26 84334 ENSG00000256053 OTTHUMG00000153929 uc010tyc.3 BC007412 NM_032374 CCDS9983 Q96IL0 "16782708|18977203|30552096|31555154" MGI:1915270 RGD:1304719 616003 444676 HGNC:20492 "ENST00000409074.8|NM_001370595.2" HGNC:20492 +HGNC:29932 COASY Coenzyme A synthase protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "DPCK|NBP|PPAT" bifunctional Coenzyme A synthase CoA synthase 2004-03-22 2015-11-11 2021-05-26 80347 ENSG00000068120 OTTHUMG00000180245 uc002hzz.5 AF453478 NM_025233 "CCDS45685|CCDS11429" Q13057 "11923312|11980892" MGI:1918993 RGD:1549767 609855 401757 2.7.7.3 HGNC:29932 "ENST00000393818.3|NM_025233.7" HGNC:29932 +HGNC:22199 COBL cordon-bleu WH2 repeat protein protein-coding gene gene with protein product Approved 7p12.1 07p12.1 KIAA0633 cordon-bleu homolog (mouse) 2004-01-30 2012-12-07 2016-10-05 23242 ENSG00000106078 OTTHUMG00000155999 uc003tpr.5 AB014533 NM_015198 "CCDS75601|CCDS34637|CCDS87505|CCDS75602" O75128 MGI:105056 RGD:1312002 610317 HGNC:22199 "ENST00000265136.12|NM_015198.5" +HGNC:23571 COBLL1 cordon-bleu WH2 repeat protein like 1 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 KIAA0977 "COBL-like 1|cordon-bleu WH2 repeat protein-like 1" Small nucleolar RNA protein coding host genes 1835 2004-01-30 2015-11-12 2015-11-12 22837 ENSG00000082438 OTTHUMG00000074019 uc061pbw.2 AB023194 NM_014900 "CCDS63046|CCDS63045|CCDS2223" Q53SF7 MGI:2442894 RGD:1308954 610318 HGNC:23571 "ENST00000652658.2|NM_001365672.2" +HGNC:55060 COBLP1 COBL pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 2020-06-04 2020-06-04 392529 ENSG00000231270 NG_022694 +HGNC:2180 COCH cochlin protein-coding gene gene with protein product Approved 14q12 14q12 COCH-5B2 "DFNA31|DFNA9" "coagulation factor C (Limulus polyphemus homolog); cochlin|coagulation factor C homolog, cochlin (Limulus polyphemus)" 1998-10-16 2013-05-01 2021-05-26 1690 ENSG00000100473 OTTHUMG00000029432 uc001wqr.3 NM_004086 "CCDS86382|CCDS9640" O43405 9806553 MGI:1278313 RGD:1308536 Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org 603196 120681 HGNC:2180 "ENST00000396618.9|NM_004086.3" HGNC:2180 +HGNC:6545 COG1 component of oligomeric golgi complex 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA1381 LDLB low density lipoprotein receptor defect B complementing Components of oligomeric golgi complex 493 2000-07-31 2002-05-31 2002-05-28 2021-05-26 9382 ENSG00000166685 OTTHUMG00000178344 uc002jjg.4 NM_018714 CCDS11692 Q8WTW3 9927668 MGI:1333873 RGD:1304594 606973 173556 HGNC:6545 "ENST00000299886.9|NM_018714.3" HGNC:6545 +HGNC:6546 COG2 component of oligomeric golgi complex 2 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 LDLC low density lipoprotein receptor defect C complementing Components of oligomeric golgi complex 493 2000-07-31 2002-05-31 2002-05-28 2021-05-26 22796 ENSG00000135775 OTTHUMG00000037753 uc001htw.4 Z34975 NM_007357 "CCDS1584|CCDS44329" Q14746 "7962052|24784932" MGI:1923582 RGD:1589822 606974 444810 HGNC:6546 "ENST00000366669.9|NM_007357.3" HGNC:6546 +HGNC:18619 COG3 component of oligomeric golgi complex 3 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 SEC34 Components of oligomeric golgi complex 493 2002-05-09 2016-10-05 83548 ENSG00000136152 OTTHUMG00000016855 uc001vak.4 AF131829 NM_031431 CCDS9398 Q96JB2 11980916 MGI:2450151 RGD:1304555 606975 HGNC:18619 "ENST00000349995.10|NM_031431.4" +HGNC:18620 COG4 component of oligomeric golgi complex 4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "COD1|DKFZP586E1519" Components of oligomeric golgi complex 493 2002-05-09 2021-05-26 25839 ENSG00000103051 OTTHUMG00000128515 uc002ezc.4 AL050101 NM_001195139 CCDS10892 Q9H9E3 11980916 MGI:2142808 RGD:1310549 606976 269762 HGNC:18620 "ENST00000323786.10|NM_015386.3" HGNC:18620 +HGNC:14857 COG5 component of oligomeric golgi complex 5 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 GTC90 GOLTC1 golgi transport complex 1 (90 kDa subunit) Components of oligomeric golgi complex 493 2001-03-01 2002-05-10 2001-12-07 2021-05-26 10466 ENSG00000164597 OTTHUMG00000023895 uc003vec.3 AF058718 NM_001161520 "CCDS5742|CCDS5743|CCDS55152" Q9UP83 "9792665|11980916" MGI:2145130 RGD:1563296 606821 269752 HGNC:14857 "ENST00000297135.9|NM_006348.5" HGNC:14857 +HGNC:18621 COG6 component of oligomeric golgi complex 6 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "COD2|KIAA1134" Components of oligomeric golgi complex 493 2002-05-09 2021-05-26 57511 ENSG00000133103 OTTHUMG00000016768 uc001uxh.3 AK026638 NM_001145079 "CCDS45042|CCDS9370" Q9Y2V7 11980916 MGI:1914792 RGD:1303283 606977 365113 HGNC:18621 "ENST00000455146.8|NM_020751.3" HGNC:18621 +HGNC:18622 COG7 component of oligomeric golgi complex 7 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 Components of oligomeric golgi complex 493 2002-05-09 2021-05-26 91949 ENSG00000168434 OTTHUMG00000094807 uc002dlo.4 AF070568 NM_153603 CCDS10610 P83436 11980916 MGI:2685013 RGD:1566058 606978 120686 HGNC:18622 "ENST00000307149.10|NM_153603.4" HGNC:18622 +HGNC:18623 COG8 component of oligomeric golgi complex 8 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ22315|DOR1" Components of oligomeric golgi complex 493 2002-05-09 2021-05-26 84342 ENSG00000213380 OTTHUMG00000154277 uc002ewy.3 AK025968 NM_032382 CCDS10876 Q96MW5 11980916 MGI:2142885 RGD:1307074 606979 123357 HGNC:18623 "ENST00000306875.10|NM_032382.5" HGNC:18623 +HGNC:2184 COIL coilin protein-coding gene gene with protein product Approved 17q22 17q22 "CLN80|p80-coilin" 2000-06-08 2015-08-24 8161 ENSG00000121058 OTTHUMG00000178126 uc002iuu.4 U06632 NM_004645 CCDS11592 P38432 7971277 MGI:104842 RGD:62031 600272 HGNC:2184 "ENST00000240316.5|NM_004645.3" +HGNC:19927 COILP1 coilin pseudogene 1 pseudogene pseudogene Approved 14q21.1 14q21.1 COILP coilin pseudogene 2003-01-13 2006-09-21 2006-09-21 2020-04-07 317784 ENSG00000259100 OTTHUMG00000170675 NG_002476 PGOHUM00000292332 HGNC:19927 +HGNC:25389 COILP2 coilin pseudogene 2 pseudogene pseudogene Approved 4q28.1 04q28.1 2006-09-21 2016-10-05 494447 NG_004786 PGOHUM00000300362 HGNC:25389 +HGNC:2197 COL1A1 collagen type I alpha 1 chain protein-coding gene gene with protein product Approved 17q21.33 17q21.33 OI4 collagen, type I, alpha 1 Collagens 490 2001-06-22 2016-07-20 2021-05-26 1277 ENSG00000108821 OTTHUMG00000148674 uc002iqm.4 Z74615 NM_000088 CCDS11561 P02452 "3178743|2857713" MGI:88467 RGD:61817 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=COL1A1|LRG_1|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1.xml" COL1A1 120150 120704 ligandId:4898 HGNC:2197 "ENST00000225964.10|NM_000088.4" HGNC:2197 +HGNC:2198 COL1A2 collagen type I alpha 2 chain protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "alpha 2(I)-collagen|alpha-2 collagen type I|type I procollagen|collagen I, alpha-2 polypeptide|collagen of skin, tendon and bone, alpha-2 chain" OI4 "osteogenesis imperfecta type IV|collagen, type I, alpha 2|collagen type I alpha 2" Collagens 490 2001-06-22 2016-05-26 2021-05-26 1278 ENSG00000164692 OTTHUMG00000148675 uc003ung.1 Z74616 NM_000089 CCDS34682 P08123 "3857213|2897363" MGI:88468 RGD:621351 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=COL1A2|LRG_2|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_2.xml" 120160 120707 HGNC:2198 "ENST00000297268.11|NM_000089.4" HGNC:2198 +HGNC:53133 COL1A2-AS1 COL1A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 "TCONS_00013888|lncRNA8975-1" Antisense RNAs 1987 2017-03-03 2017-03-03 101927525 NR_147206 27866191 HGNC:53133 +HGNC:2199 COL1AR collagen type I alpha receptor other unknown Approved 15 15 collagen, type I, alpha, receptor 1989-05-08 2016-01-21 2019-06-20 1279 2840666 120340 +HGNC:2200 COL2A1 collagen type II alpha 1 chain protein-coding gene gene with protein product Approved 12q13.11 12q13.11 STL1 "SEDC|AOM" "collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)|arthroophthalmopathy, progressive (Stickler syndrome)|collagen, type II, alpha 1|collagen type II alpha 1" Collagens 490 1986-01-01 2016-05-26 2021-05-26 1280 ENSG00000139219 OTTHUMG00000149896 uc001rqu.4 X16468 NM_001844 "CCDS41778|CCDS8759" P02458 1677770 MGI:88452 RGD:2375 LOVD - Center for Medical Genetics, Ghent, Belgium|http://medgen.ugent.be/LOVD2/home.php?select_db=COL2A1 COL2A1 120140 120710 ligandId:4899 HGNC:2200 "ENST00000380518.8|NM_001844.5" HGNC:2200 +HGNC:2201 COL3A1 collagen type III alpha 1 chain protein-coding gene gene with protein product Approved 2q32.2 02q32.2 EDS4A "Ehlers-Danlos syndrome type IV, autosomal dominant|collagen, type III, alpha 1" "Collagens|MicroRNA protein coding host genes" "490|1691" 2001-06-22 2016-05-26 2021-05-26 1281 ENSG00000168542 OTTHUMG00000132648 uc002uqj.2 X15332 NM_000090 CCDS2297 P02461 "2780304|2834369" MGI:88453 RGD:71029 "Ehlers-Danlos Syndrome Variant Database|https://eds.gene.le.ac.uk/home.php?select_db=COL3A1|LRG_3|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_3.xml" 120180 120713 ligandId:4900 HGNC:2201 "ENST00000304636.9|NM_000090.4" HGNC:2201 +HGNC:2202 COL4A1 collagen type IV alpha 1 chain protein-coding gene gene with protein product Approved 13q34 13q34 collagen, type IV, alpha 1 Collagens 490 2001-06-22 2016-05-26 2021-05-26 1282 ENSG00000187498 OTTHUMG00000017342 uc001vqw.4 J04217 NM_001303110 "CCDS9511|CCDS76649" P02462 3691802 MGI:88454 RGD:1307148 LRG_1116|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1116.xml 120130 120716 ligandId:4901 HGNC:2202 "ENST00000375820.10|NM_001845.6" HGNC:2202 +HGNC:2203 COL4A2 collagen type IV alpha 2 chain protein-coding gene gene with protein product Approved 13q34 13q34 "FLJ22259|DKFZp686I14213" "canstatin|collagen type IV alpha 2" collagen type IV alpha 2 "Collagens|MicroRNA protein coding host genes" "490|1691" 2001-06-22 2016-07-20 2021-05-26 1284 ENSG00000134871 OTTHUMG00000017344 uc001vqx.4 AK025912 NM_001846 CCDS41907 P08572 "2439508|3025878" MGI:88455 RGD:1308085 120090 291813 HGNC:2203 "ENST00000360467.7|NM_001846.4" HGNC:2203 +HGNC:40156 COL4A2-AS1 COL4A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 COL4A2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874203 ENSG00000232814 OTTHUMG00000149649 uc031qnh.2 NR_046583 COL4A2-AS1 HGNC:40156 +HGNC:39849 COL4A2-AS2 COL4A2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q34 13q34 "COL4A2 antisense RNA 2 (non-protein coding)|COL4A2 antisense 2" Antisense RNAs 1987 2011-05-18 2021-02-11 2021-02-11 100129836 ENSG00000224821 OTTHUMG00000149650 uc058yfx.1 NR_171022 HGNC:39849 +HGNC:2204 COL4A3 collagen type IV alpha 3 chain protein-coding gene gene with protein product Approved 2q36.3 02q36.3 tumstatin collagen, type IV, alpha 3 (Goodpasture antigen) Collagens 490 1991-09-12 2016-05-26 2021-05-26 1285 ENSG00000169031 OTTHUMG00000149891 uc002vom.2 NM_000091 CCDS42829 Q01955 1737849 MGI:104688 RGD:71085 LRG_230|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_230.xml 120070 120718 HGNC:2204 "ENST00000396578.8|NM_000091.5" HGNC:2204 +HGNC:2206 COL4A4 collagen type IV alpha 4 chain protein-coding gene gene with protein product Approved 2q36.3 02q36.3 CA44 collagen of basement membrane, alpha-4 chain collagen, type IV, alpha 4 Collagens 490 1992-06-25 2016-05-26 2021-05-26 1286 ENSG00000081052 OTTHUMG00000149892 uc061teu.1 NM_000092 CCDS42828 P53420 1639407 MGI:104687 RGD:1305355 LRG_231|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_231.xml 120131 120720 HGNC:2206 "ENST00000396625.5|NM_000092.5" HGNC:2206 +HGNC:2207 COL4A5 collagen type IV alpha 5 chain protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "ASLN|ATS" "Alport syndrome|collagen, type IV, alpha 5|collagen type IV alpha 5" Collagens 490 2001-06-22 2016-05-26 2021-05-26 1287 ENSG00000188153 OTTHUMG00000022182 uc065aqj.1 M90464 NM_000495 "CCDS35366|CCDS14543" P29400 MGI:88456 RGD:1565499 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/COL4A5|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/COL4A5|LRG_232|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_232.xml" 303630 120722 HGNC:2207 "ENST00000328300.11|NM_033380.3" HGNC:2207 +HGNC:2208 COL4A6 collagen type IV alpha 6 chain protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 collagen, type IV, alpha 6 Collagens 490 1993-10-01 2016-05-26 2021-05-26 1288 ENSG00000197565 OTTHUMG00000022179 uc033eqm.2 U04845 NM_001287758 "CCDS14541|CCDS76009|CCDS14542|CCDS76008|CCDS76010" Q14031 8356449 MGI:2152695 RGD:1589724 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/COL4A6|LRG_233|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_233.xml" 303631 120726 HGNC:2208 "ENST00000334504.12|NM_033641.4" HGNC:2208 +HGNC:2209 COL5A1 collagen type V alpha 1 chain protein-coding gene gene with protein product Approved 9q34.3 09q34.3 alpha 1 type V collagen collagen type V alpha 1 Collagens 490 1992-02-26 2016-07-20 2021-05-26 1289 ENSG00000130635 OTTHUMG00000020891 uc004cfe.5 D90279 NM_000093 "CCDS6982|CCDS75932" P20908 "1572660|26910848" MGI:88457 RGD:70920 "Ehlers-Danlos Syndrome Variant Database|https://eds.gene.le.ac.uk/home.php?select_db=COL5A1|LRG_737|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_737.xml" 120215 120728 HGNC:2209 "ENST00000371817.8|NM_000093.5" HGNC:2209 +HGNC:31368 COL5A1-AS1 COL5A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 bA54A22.4 C9orf104 "chromosome 9 open reading frame 104|COL5A1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-06-02 2012-03-30 2012-08-15 2012-10-12 414316 ENSG00000204011 OTTHUMG00000020890 uc064wxh.1 "AI798815|CR748640" NR_138049 Q5SY13 COL5A1-AS1 HGNC:31368 +HGNC:2210 COL5A2 collagen type V alpha 2 chain protein-coding gene gene with protein product Approved 2q32.2 02q32.2 AB collagen collagen, type V, alpha 2 "Collagens|MicroRNA protein coding host genes" "490|1691" 2001-06-22 2016-05-26 2021-05-26 1290 ENSG00000204262 OTTHUMG00000149842 uc002uqk.4 Y14690 NM_000393 CCDS33350 P05997 1572660 MGI:88458 RGD:70921 "Ehlers-Danlos Syndrome Variant Database|https://eds.gene.le.ac.uk/home.php?select_db=COL5A2|LRG_738|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_738.xml" 120190 120730 HGNC:2210 "ENST00000374866.9|NM_000393.5" HGNC:2210 +HGNC:14864 COL5A3 collagen type V alpha 3 chain protein-coding gene gene with protein product Approved 19p13.2 19p13.2 collagen type V alpha 3 Collagens 490 2001-03-01 2016-07-20 2016-07-20 50509 ENSG00000080573 OTTHUMG00000150019 uc002mmq.1 AF177941 NM_015719 CCDS12222 P25940 "10722718|26910848" MGI:1858212 RGD:70922 120216 470112 HGNC:14864 "ENST00000264828.4|NM_015719.4" +HGNC:2211 COL6A1 collagen type VI alpha 1 chain protein-coding gene gene with protein product Approved 21q22.3 21q22.3 collagen, type VI, alpha 1 Collagens 490 2001-06-22 2016-07-20 2021-05-26 1291 ENSG00000142156 OTTHUMG00000090440 uc002zhu.2 M20776 NM_001848 CCDS13727 P12109 23869615 MGI:88459 RGD:1565398 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/COL6A1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=COL6A1|LRG_475|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_475.xml" 120220 120732 HGNC:2211 "ENST00000361866.8|NM_001848.3" HGNC:2211 +HGNC:2212 COL6A2 collagen type VI alpha 2 chain protein-coding gene gene with protein product Approved 21q22.3 21q22.3 collagen type VI alpha 2 Collagens 490 2001-06-22 2016-07-20 2021-05-26 1292 ENSG00000142173 OTTHUMG00000090489 uc002zia.2 M20777 NM_001849 "CCDS13730|CCDS13729|CCDS13728" P12110 23869615 MGI:88460 RGD:1305585 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/COL6A2|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=COL6A2|LRG_476|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_476.xml" 120240 120734 HGNC:2212 "ENST00000300527.9|NM_001849.4" HGNC:2212 +HGNC:55814 COL6A2-DT COL6A2 divergent transcript non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Divergent transcripts 1990 2021-07-30 2021-07-30 122152369 ENSG00000227438 +HGNC:2213 COL6A3 collagen type VI alpha 3 chain protein-coding gene gene with protein product Approved 2q37.3 02q37.3 collagen, type VI, alpha 3 Collagens 490 2001-06-22 2016-05-26 2021-05-26 1293 ENSG00000163359 OTTHUMG00000150020 uc002vwl.3 X52022 NM_004369 "CCDS33409|CCDS33411|CCDS54439|CCDS33412|CCDS33410" P12111 "1339440|11992252|23869615" MGI:88461 RGD:1308704 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/COL6A3|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=COL6A3|LRG_473|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_473.xml" 120250 120736 I02.968 HGNC:2213 "ENST00000295550.9|NM_004369.4" HGNC:2213 +HGNC:33484 COL6A4P1 collagen type VI alpha 4 pseudogene 1 pseudogene pseudogene Approved 3p25.1 03p25.1 "VWA6|DIVA|COL6A4|COL6A4P" "von Willebrand factor A domain containing 6|collagen, type VI, alpha 4|collagen, type VI, alpha 4, pseudogene" DVWA "dual von Willebrand factor A domains|collagen, type VI, alpha 4 pseudogene 1" Collagens 490 2009-06-12 2010-05-24 2016-01-21 2020-08-14 344875 ENSG00000230524 OTTHUMG00000154983 AB299979 NR_027927 "19507504|19486942" MGI:1915803 612397 PGOHUM00000237544 HGNC:33484 +HGNC:38501 COL6A4P2 collagen type VI alpha 4 pseudogene 2 pseudogene pseudogene Approved 3q22.1 03q22.1 COL6A4 collagen, type VI, alpha 4 collagen, type VI, alpha 4 pseudogene 2 Collagens 490 2010-05-24 2016-01-21 2020-08-14 646300 ENSG00000228252 OTTHUMG00000154984 BF593933 NR_027898 MGI:1915803 616612 PGOHUM00000238185 HGNC:38501 +HGNC:26674 COL6A5 collagen type VI alpha 5 chain protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "FLJ35880|VWA4" von Willebrand factor A domain containing 4 COL29A1 "collagen, type XXIX, alpha 1|collagen, type VI, alpha 5|collagen type VI alpha 5" Collagens 490 2008-01-18 2010-05-24 2016-07-20 2016-10-05 256076 ENSG00000172752 OTTHUMG00000159712 uc062ntv.1 AK093199 NM_153264 A8TX70 "17850181|23869615" MGI:3648134 RGD:1565804 611916 HGNC:26674 +HGNC:27023 COL6A6 collagen type VI alpha 6 chain protein-coding gene gene with protein product Approved 3q22.1 03q22.1 collagen, type VI, alpha 6 Collagens 490 2009-11-04 2016-07-20 2016-07-20 131873 ENSG00000206384 OTTHUMG00000159653 uc010htl.4 AL713792 NM_001102608 CCDS46911 A6NMZ7 23869615 MGI:2444259 RGD:1309172 616613 470114 HGNC:27023 "ENST00000358511.11|NM_001102608.3" HGNC:27023 +HGNC:2214 COL7A1 collagen type VII alpha 1 chain protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "collagen VII, alpha-1 polypeptide|LC collagen" "EBDCT|EBD1|EBR1" "epidermolysis bullosa, dystrophic, dominant and recessive|collagen, type VII, alpha 1" "Collagens|Fibronectin type III domain containing|MicroRNA protein coding host genes" "490|555|1691" 1991-11-01 2016-07-20 2021-05-26 1294 ENSG00000114270 OTTHUMG00000133541 uc003ctz.3 L02870 NM_000094 CCDS2773 Q02388 "1871109|12727020" MGI:88462 RGD:1311417 LRG_286|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_286.xml 120120 120738 I02.967 HGNC:2214 "ENST00000681320.1|NM_000094.4" HGNC:2214 +HGNC:2215 COL8A1 collagen type VIII alpha 1 chain protein-coding gene gene with protein product Approved 3q12.1 03q12.1 MGC9568 C3orf7 "chromosome 3 open reading frame 7|collagen, type VIII, alpha 1" "Collagens|C1q domain containing" "490|1641" 1991-08-17 2016-07-20 2016-10-05 1295 ENSG00000144810 OTTHUMG00000148669 uc003dtg.3 AF170702 NM_001850 CCDS2934 P27658 2029894 MGI:88463 RGD:1309361 120251 HGNC:2215 "ENST00000652472.1|NM_020351.4" +HGNC:2216 COL8A2 collagen type VIII alpha 2 chain protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "PPCD|FECD1|PPCD2" FECD "collagen, type VIII, alpha 2|collagen type VIII alpha 2" "Collagens|C1q domain containing" "490|1641" 1991-07-16 2016-07-20 2021-05-26 1296 ENSG00000171812 OTTHUMG00000007665 uc057etn.1 M60832 NM_005202 "CCDS403|CCDS72756" P25067 11689488 MGI:88464 RGD:1305182 120252 120743 HGNC:2216 "ENST00000397799.2|NM_005202.4" HGNC:2216 +HGNC:2217 COL9A1 collagen type IX alpha 1 chain protein-coding gene gene with protein product Approved 6q13 06q13 collagen, type IX, alpha 1 "Collagens|Collagen proteoglycans" "490|575" 1989-05-08 2016-07-20 2021-05-26 1297 ENSG00000112280 OTTHUMG00000014988 uc003pfg.5 NM_001377289 "CCDS47447|CCDS4971" P20849 "1429648|12399468" MGI:88465 RGD:1309425 120210 120748 HGNC:2217 "ENST00000357250.11|NM_001851.6" HGNC:2217 +HGNC:2218 COL9A2 collagen type IX alpha 2 chain protein-coding gene gene with protein product Approved 1p34.2 01p34.2 MED EDM2 collagen, type IX, alpha 2 "Collagens|Collagen proteoglycans" "490|575" 1993-06-16 2016-07-20 2021-05-26 1298 ENSG00000049089 OTTHUMG00000005761 uc001cfh.2 M95610 NM_001852 CCDS450 Q14055 "8454052|8528240|1429648|21671392" MGI:88466 RGD:1307029 120260 120750 HGNC:2218 "ENST00000372748.8|NM_001852.4" HGNC:2218 +HGNC:2219 COL9A3 collagen type IX alpha 3 chain protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "IDD|MED|EDM3|FLJ90759|DJ885L7.4.1" collagen type IX proteoglycan collagen, type IX, alpha 3 "Collagens|Collagen proteoglycans" "490|575" 1995-08-15 2016-07-20 2021-05-26 1299 ENSG00000092758 OTTHUMG00000032938 uc002ydm.3 AK075240 NM_001853 CCDS13505 Q14050 "8586434|1429648|24273071" MGI:894686 RGD:1310255 LRG_1253|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1253.xml 120270 120754 HGNC:2219 "ENST00000649368.1|NM_001853.4" HGNC:2219 +HGNC:2185 COL10A1 collagen type X alpha 1 chain protein-coding gene gene with protein product Approved 6q22.1 06q22.1 Schmid metaphyseal chondrodysplasia collagen, type X, alpha 1 "Collagens|C1q domain containing" "490|1641" 1991-10-07 2016-05-26 2021-05-26 1300 ENSG00000123500 OTTHUMG00000015426 uc003pwm.4 NM_000493 CCDS5105 Q03692 2037056 MGI:88445 RGD:2371 120110 120688 HGNC:2185 "ENST00000651968.1|NM_000493.4" HGNC:2185 +HGNC:2186 COL11A1 collagen type XI alpha 1 chain protein-coding gene gene with protein product Approved 1p21.1 01p21.1 "STL2|CO11A1" collagen XI, alpha-1 polypeptide "COLL6|DFNA37" "collagen, type XI, alpha 1|deafness, autosomal dominant 37" Collagens 490 1989-05-08 2016-05-26 2021-05-26 1301 ENSG00000060718 OTTHUMG00000010872 uc001dul.4 J04177 NM_080630 "CCDS778|CCDS53348|CCDS780" P12107 "3182841|30245514" MGI:88446 RGD:2372 120280 120690 HGNC:2186 "ENST00000370096.9|NM_001854.4" HGNC:2186 +HGNC:2187 COL11A2 collagen type XI alpha 2 chain protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HKE5 "DFNA13|DFNB53" collagen, type XI, alpha 2 Collagens 490 1989-05-25 2016-07-20 2021-05-26 1302 ENSG00000204248 OTTHUMG00000031036 uc003ocy.2 U32169 NM_001163771 "CCDS54992|CCDS43452" P13942 "7559422|10581026|22246659" MGI:88447 RGD:2373 Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org 120290 120693 HGNC:2187 "ENST00000341947.7|NM_080680.3" HGNC:2187 +HGNC:13947 COL11A2P1 collagen type XI alpha 2 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 cD0826Q1.1 COL11A2P "collagen, type XI, alpha 2 pseudogene|collagen, type XI, alpha 2 pseudogene 1" 2004-01-12 2013-01-17 2016-01-21 2016-01-21 394214 ENSG00000228688 OTTHUMG00000031065 NG_007926 PGOHUM00000243154 HGNC:13947 +HGNC:2188 COL12A1 collagen type XII alpha 1 chain protein-coding gene gene with protein product Approved 6q13-q14.1 06q13-q14.1 collagen type XII proteoglycan COL12A1L "collagen, type XII, alpha 1-like|collagen, type XII, alpha 1" "Collagens|Fibronectin type III domain containing|Collagen proteoglycans" "490|555|575" 1992-03-24 2016-05-26 2021-05-26 1303 ENSG00000111799 OTTHUMG00000015051 uc063ppm.1 U73779 NM_004370 "CCDS43482|CCDS43481" Q99715 9143499 MGI:88448 RGD:2374 120320 403672 HGNC:2188 "ENST00000322507.13|NM_004370.6" HGNC:2188 +HGNC:2190 COL13A1 collagen type XIII alpha 1 chain protein-coding gene gene with protein product Approved 10q22.1 10q22.1 collagen, type XIII, alpha 1 Collagens 490 1988-08-05 2016-05-26 2021-05-26 1305 ENSG00000197467 OTTHUMG00000018394 uc057tul.1 AJ293624 NM_005203 "CCDS44423|CCDS44419|CCDS44425|CCDS44428|CCDS44427|CCDS44424" Q5TAT6 MGI:1277201 RGD:1595704 120350 447926 HGNC:2190 "ENST00000645393.2|NM_001368882.1" HGNC:2190 +HGNC:2191 COL14A1 collagen type XIV alpha 1 chain protein-coding gene gene with protein product Approved 8q24.12 08q24.12 UND "undulin|collagen, type XIV, alpha 1" "Collagens|Fibronectin type III domain containing" "490|555" 1998-12-15 2016-05-26 2021-11-11 7373 ENSG00000187955 OTTHUMG00000149877 uc003yox.5 NM_021110 CCDS34938 Q05707 "10393435|1716629|9427527" MGI:1341272 RGD:1305806 120324 311649 HGNC:2191 "ENST00000297848.8|NM_021110.4" HGNC:2191 +HGNC:2192 COL15A1 collagen type XV alpha 1 chain protein-coding gene gene with protein product Approved 9q22.33 09q22.33 collagen type XV proteoglycan collagen, type XV, alpha 1 "Collagens|Collagen proteoglycans" "490|575" 1992-06-09 2016-05-26 2016-10-05 1306 ENSG00000204291 OTTHUMG00000020351 uc004azb.3 L25286 NM_001855 CCDS35081 P39059 1427836 MGI:88449 RGD:1310820 120325 HGNC:2192 "ENST00000375001.8|NM_001855.5" +HGNC:2193 COL16A1 collagen type XVI alpha 1 chain protein-coding gene gene with protein product Approved 1p35.2 01p35.2 collagen, type XVI, alpha 1 Collagens 490 1992-09-14 2016-05-26 2016-10-05 1307 ENSG00000084636 OTTHUMG00000003883 uc001btk.2 M92642 NM_001856 CCDS41297 Q07092 1631157 MGI:1095396 RGD:1310982 120326 HGNC:2193 "ENST00000373672.8|NM_001856.4" +HGNC:2194 COL17A1 collagen type XVII alpha 1 chain protein-coding gene gene with protein product Approved 10q25.1 10q25.1 BP180 BPAG2 collagen, type XVII, alpha 1 "Collagens|MicroRNA protein coding host genes" "490|1691" 1993-09-27 2016-07-20 2021-05-26 1308 ENSG00000065618 OTTHUMG00000018998 uc001kxr.4 M91669 "NM_130778|NM_000494" CCDS7554 Q9UMD9 "7916703|9748270" MGI:88450 RGD:1311130 LRG_1249|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1249.xml 113811 120698 HGNC:2194 "ENST00000648076.2|NM_000494.4" HGNC:2194 +HGNC:2195 COL18A1 collagen type XVIII alpha 1 chain protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KS|KNO1" endostatin KNO "Knobloch syndrome, type 1|collagen, type XVIII, alpha 1" "Collagens|MicroRNA protein coding host genes" "490|1691" 1993-05-25 2016-05-26 2021-05-26 80781 ENSG00000182871 OTTHUMG00000090407 uc062awh.1 NM_001379500 "CCDS77643|CCDS42972" P39060 "8188291|8776601|10942434|17546652" MGI:88451 RGD:70936 120328 120702 HGNC:2195 "ENST00000651438.1|NM_001379500.1" HGNC:2195 +HGNC:23132 COL18A1-AS1 COL18A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 PRED80 "C21orf123|NCRNA00175" "chromosome 21 open reading frame 123|non-protein coding RNA 175|COL18A1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-10-01 2011-08-11 2012-08-15 2014-11-19 378832 ENSG00000183535 OTTHUMG00000090401 uc011afr.1 AK096071 NR_027498 COL18A1-AS1 HGNC:23132 +HGNC:40155 COL18A1-AS2 COL18A1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 COL18A1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-08-11 2012-08-15 2014-11-19 100874236 ENSG00000224574 OTTHUMG00000137616 uc031rwa.1 NR_052004 COL18A1-AS2 HGNC:40155 +HGNC:2196 COL19A1 collagen type XIX alpha 1 chain protein-coding gene gene with protein product Approved 6q13 06q13 collagen, type XIX, alpha 1 Collagens 490 1996-10-02 2016-05-26 2016-10-05 1310 ENSG00000082293 OTTHUMG00000014987 uc032xam.2 NM_001858 CCDS4970 Q14993 "7916703|9143499" MGI:1095415 RGD:1308920 120165 HGNC:2196 "ENST00000620364.5|NM_001858.6" +HGNC:14670 COL20A1 collagen type XX alpha 1 chain protein-coding gene gene with protein product Approved 20q13.33 20q13.33 KIAA1510 collagen, type XX, alpha 1 "Collagens|Fibronectin type III domain containing" "490|555" 2005-07-15 2016-05-26 2016-05-26 57642 ENSG00000101203 OTTHUMG00000032964 uc011aau.2 BC043183 NM_020882 CCDS46628 Q9P218 10819331 MGI:1920618 RGD:1563901 619390 HGNC:14670 "ENST00000358894.11|NM_020882.4" HGNC:14670 +HGNC:17025 COL21A1 collagen type XXI alpha 1 chain protein-coding gene gene with protein product Approved 6p12.1 06p12.1 collagen, type XXI, alpha 1 Collagens 490 2001-10-18 2016-05-26 2016-10-05 81578 ENSG00000124749 OTTHUMG00000014907 uc003pcs.4 AF330693 NM_001318751 "CCDS83099|CCDS55025" Q96P44 11566190 610002 HGNC:17025 "ENST00000244728.10|NM_030820.4" +HGNC:22989 COL22A1 collagen type XXII alpha 1 chain protein-coding gene gene with protein product Approved 8q24.23-q24.3 08q24.23-q24.3 collagen, type XXII, alpha 1 Collagens 490 2003-08-12 2016-07-20 2018-11-15 169044 ENSG00000169436 OTTHUMG00000150035 uc003yvd.3 AF406780 NM_152888 CCDS6376 Q8NFW1 15016833 MGI:1916950 RGD:1309081 610026 HGNC:22989 "ENST00000303045.11|NM_152888.3" +HGNC:22990 COL23A1 collagen type XXIII alpha 1 chain protein-coding gene gene with protein product Approved 5q35.3 05q35.3 DKFZp434K0621 collagen, type XXIII, alpha 1 Collagens 490 2003-08-12 2016-05-26 2016-05-26 91522 ENSG00000050767 OTTHUMG00000130890 uc063kkp.1 AL137461 NM_173465 CCDS4436 Q86Y22 12644459 MGI:2653243 RGD:727898 610043 HGNC:22990 "ENST00000390654.8|NM_173465.4" +HGNC:20821 COL24A1 collagen type XXIV alpha 1 chain protein-coding gene gene with protein product Approved 1p22.3 01p22.3 collagen, type XXIV, alpha 1 Collagens 490 2003-04-10 2016-07-20 2021-05-26 255631 ENSG00000171502 OTTHUMG00000010629 uc001dlj.4 AF410793 NM_152890 CCDS41353 Q17RW2 16373341 MGI:1918605 RGD:1565539 610025 HGNC:20821 "ENST00000370571.7|NM_152890.7" HGNC:20821 +HGNC:18603 COL25A1 collagen type XXV alpha 1 chain protein-coding gene gene with protein product Approved 4q25 04q25 collagen, type XXV, alpha 1 Collagens 490 2003-04-10 2016-07-20 2021-05-26 84570 ENSG00000188517 OTTHUMG00000150039 uc062yyf.1 AF293340 NM_032518 "CCDS58922|CCDS43259|CCDS43258" Q9BXS0 11927537 MGI:1924268 RGD:1590105 610004 422551 HGNC:18603 "ENST00000399132.6|NM_198721.4" HGNC:18603 +HGNC:32963 COL25A1-DT COL25A1 divergent transcript non-coding RNA RNA, long non-coding Approved 4q25 04q25 FLJ45231 ZCCHC23 zinc finger CCHC-type containing 23 Divergent transcripts 1990 2006-07-14 2019-06-28 2019-06-28 2019-06-28 645078 ENSG00000246774 OTTHUMG00000161047 NR_160939 Q6ZST2 HGNC:32963 +HGNC:18038 COL26A1 collagen type XXVI alpha 1 chain protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "Emu2|EMI6" Emu2 gene EMID2 "EMI domain containing 2|collagen, type XXVI, alpha 1" "Collagens|EMI domain containing" "490|540" 2003-04-10 2013-01-16 2016-07-20 2016-07-20 136227 ENSG00000160963 OTTHUMG00000150033 uc033aas.1 AJ416091 NM_133457 CCDS64739 Q96A83 "12221002|12145293" MGI:2155345 RGD:1591401 608927 HGNC:18038 "ENST00000313669.12|NM_001278563.3" +HGNC:22986 COL27A1 collagen type XXVII alpha 1 chain protein-coding gene gene with protein product Approved 9q32 09q32 "KIAA1870|MGC11337|FLJ11895" "collagen, type XXVII, alpha 1|collagen type XXVII alpha 1" "Collagens|MicroRNA protein coding host genes" "490|1691" 2003-08-12 2016-07-20 2021-05-26 85301 ENSG00000196739 OTTHUMG00000020537 uc011lxl.3 AB058773 NM_032888 CCDS6802 Q8IZC6 "12766169|12714037" MGI:2672118 RGD:735115 608461 441425 HGNC:22986 "ENST00000356083.8|NM_032888.4" HGNC:22986 +HGNC:22442 COL28A1 collagen type XXVIII alpha 1 chain protein-coding gene gene with protein product Approved 7p21.3 07p21.3 collagen, type XXVIII, alpha 1 Collagens 490 2006-02-07 2016-05-26 2016-05-26 340267 ENSG00000215018 OTTHUMG00000150034 uc003src.2 AJ890451 NM_001037763 CCDS43553 Q2UY09 16330543 MGI:2685312 RGD:1564680 609996 HGNC:22442 "ENST00000399429.8|NM_001037763.3" +HGNC:33789 COLCA1 colorectal cancer associated 1 non-coding RNA RNA, long non-coding Approved 11q23.1 11q23.1 "FLJ45803|CASC12" cancer susceptibility candidate 12 C11orf92 chromosome 11 open reading frame 92 Long non-coding RNAs with non-systematic symbols 1992 2009-03-03 2013-08-22 2013-08-22 2021-02-25 399948 ENSG00000196167 OTTHUMG00000166658 AK127703 NR_169237 Q6ZS62 "24154973|24760461" 615693 HGNC:33789 +HGNC:26978 COLCA2 colorectal cancer associated 2 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 CASC13 cancer susceptibility candidate 13 C11orf93 chromosome 11 open reading frame 93 2009-09-30 2013-08-22 2013-08-22 2013-10-11 120376 ENSG00000214290 OTTHUMG00000166657 BC042557 NM_001136105 "CCDS44728|CCDS73378" A8K830 21071539 MGI:2685530 RGD:1563866 615694 HGNC:26978 "ENST00000610738.6|NM_001271458.2" +HGNC:2220 COLEC10 collectin subfamily member 10 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "CL-L1|CL-10" collectin sub-family member 10 (C-type lectin) "Collectins|C-type lectin domain containing|Complement system activation components" "491|1298|1638" 2000-04-11 2015-11-16 2021-05-26 10584 ENSG00000184374 OTTHUMG00000164971 uc003yoo.4 AB002631 NM_001324095 CCDS6327 Q9Y6Z7 10224141 MGI:3606482 RGD:1307149 607620 HGNC:2220 "ENST00000332843.3|NM_006438.5" HGNC:2220 +HGNC:17213 COLEC11 collectin subfamily member 11 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "MGC3279|CL-K1|CL-11" Collectin K1 "Collectins|C-type lectin domain containing|Complement system activation components" "491|1298|1638" 2001-11-20 2015-11-16 2021-05-26 78989 ENSG00000118004 OTTHUMG00000090304 uc002qya.5 BC000078 NM_024027 "CCDS1650|CCDS58694|CCDS58693|CCDS58692|CCDS58691|CCDS58690|CCDS58689|CCDS1649" Q9BWP8 MGI:1918943 RGD:1309678 LRG_350|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_350.xml 612502 260599 HGNC:17213 "ENST00000349077.9|NM_024027.5" HGNC:17213 +HGNC:16016 COLEC12 collectin subfamily member 12 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "SRCL|CL-P1|SCARA4" "Collectins|Scavenger receptors|C-type lectin domain containing" "491|1253|1298" 2001-12-13 2015-11-16 2015-11-16 81035 ENSG00000158270 OTTHUMG00000178145 uc002kkm.4 AB038518 NM_130386 CCDS32782 Q5KU26 11162630 MGI:2152907 RGD:735039 607621 HGNC:16016 "ENST00000400256.5|NM_130386.3" +HGNC:26182 COLGALT1 collagen beta(1-O)galactosyltransferase 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 FLJ22329 "Procollagen galactosyltransferase|Hydroxylysine galactosyltransferase" GLT25D1 glycosyltransferase 25 domain containing 1 Collagen beta(1-O)galactosyltransferases 439 2004-09-16 2013-02-27 2013-02-27 2021-05-26 79709 ENSG00000130309 uc002nhc.2 AK075541 NM_024656 CCDS12363 Q8NBJ5 "19075007|30822656" MGI:1924348 RGD:1309002 617531 470116 2.4.1.50 HGNC:26182 "ENST00000252599.9|NM_024656.4" HGNC:26182 +HGNC:16790 COLGALT2 collagen beta(1-O)galactosyltransferase 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 KIAA0584 Procollagen galactosyltransferase "C1orf17|GLT25D2" "chromosome 1 open reading frame 17|glycosyltransferase 25 domain containing 2" Collagen beta(1-O)galactosyltransferases 439 2001-10-08 2013-02-27 2013-02-27 2021-05-26 23127 ENSG00000198756 OTTHUMG00000035460 uc001gqr.4 AF288389 NM_015101 CCDS1360 Q8IYK4 "19075007|30822656" MGI:2138232 RGD:1304702 617533 2.4.1.50 HGNC:16790 "ENST00000361927.9|NM_015101.4" HGNC:16790 +HGNC:2226 COLQ collagen like tail subunit of asymmetric acetylcholinesterase protein-coding gene gene with protein product Approved 3p25.1 03p25.1 EAD "single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase|collagenic tail of endplate acetylcholinesterase|AChE Q subunit|acetylcholinesterase-associated collagen" collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase MicroRNA protein coding host genes 1691 1998-09-14 2016-06-21 2021-05-26 8292 ENSG00000206561 OTTHUMG00000156233 uc003bzx.3 AF057036 NM_005677 "CCDS43057|CCDS46768|CCDS33709" Q9Y215 9689136 MGI:1338761 RGD:2377 ESTHER wwwserver: ESTerases and alpha/beta Hydrolase Enzymes & Relatives|http://bioweb.ensam.inra.fr/esther 603033 120761 HGNC:2226 "ENST00000383788.10|NM_005677.4" HGNC:2226 +HGNC:51196 COMETT cytosolic oncogenic antisense to MET transcript non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 COMET Correlated-to-MET LINC01510 long intergenic non-protein coding RNA 1510 Long non-coding RNAs with non-systematic symbols 1992 2014-08-01 2019-12-11 2019-12-11 2019-12-11 100996266 ENSG00000231210 OTTHUMG00000064097 NR_120506 "29581707|30862713" LINC01510 HGNC:51196 +HGNC:23024 COMMD1 copper metabolism domain containing 1 protein-coding gene gene with protein product Approved 2p15 02p15 "MURR1|MGC27155" "copper metabolism gene MURR1|COMM domain containing 1" C2orf5 "chromosome 2 open reading frame 5 (MURR1)|copper metabolism (Murr1) domain containing 1" "COMM domain containing|CCC complex" "979|1557" 2003-08-26 2004-02-18 2016-01-07 2016-01-07 150684 ENSG00000173163 OTTHUMG00000129445 uc002sbp.4 BC022046 NM_152516 CCDS1869 Q8N668 "9001233|11809725" MGI:109474 RGD:1311771 607238 HGNC:23024 "ENST00000311832.6|NM_152516.4" +HGNC:24993 COMMD2 COMM domain containing 2 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 HSPC042 COMM domain containing 979 2004-02-13 2004-02-20 51122 ENSG00000114744 OTTHUMG00000159616 uc003exj.2 AY542158 NM_016094 CCDS3145 Q86X83 15799966 MGI:1098806 RGD:1588810 616699 HGNC:24993 "ENST00000473414.6|NM_016094.4" +HGNC:23332 COMMD3 COMM domain containing 3 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 BUP C10orf8 chromosome 10 open reading frame 8 "COMM domain containing|CCC complex" "979|1557" 2003-11-10 2004-02-18 2004-02-13 2014-11-19 23412 ENSG00000148444 OTTHUMG00000017806 uc001irf.4 AY542159 NM_012071 CCDS7137 Q9UBI1 "11042152|15799966" MGI:88218 RGD:735116 616700 HGNC:23332 "ENST00000376836.8|NM_012071.4" +HGNC:48326 COMMD3-BMI1 COMMD3-BMI1 readthrough other readthrough Approved 10p12.2 10p12.2 2013-05-08 2013-05-08 100532731 ENSG00000269897 OTTHUMG00000184031 NM_001204062 MGI:88174 HGNC:48326 +HGNC:26027 COMMD4 COMM domain containing 4 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 FLJ20452 "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2014-11-19 54939 ENSG00000140365 OTTHUMG00000142823 uc002azy.5 AY542160 NM_017828 "CCDS66835|CCDS73764|CCDS66834|CCDS10277|CCDS81909" Q9H0A8 15799966 MGI:1913449 RGD:1306104 616701 HGNC:26027 "ENST00000267935.13|NM_017828.5" +HGNC:51909 COMMD4P1 COMM domain containing 4 pseudogene 1 pseudogene pseudogene Approved 15q24.3 15q24.3 2019-08-28 2019-08-28 440292 ENSG00000214646 OTTHUMG00000172981 NR_157580 PGOHUM00000293028 HGNC:51909 +HGNC:51910 COMMD4P2 COMM domain containing 4 pseudogene 2 pseudogene pseudogene Approved 15q24.1 15q24.1 2019-08-28 2019-08-28 732265 ENSG00000214702 OTTHUMG00000173052 NR_160652 PGOHUM00000293013 HGNC:51910 +HGNC:17902 COMMD5 COMM domain containing 5 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "HT002|FLJ13008|HCaRG" COMM domain containing 979 2004-02-13 2014-11-19 28991 ENSG00000170619 OTTHUMG00000165251 uc003zeo.5 AK023070 NM_014066 CCDS6436 Q9GZQ3 "15799966|10918053" MGI:1913648 RGD:621468 608216 HGNC:17902 "ENST00000305103.4|NM_014066.4" +HGNC:56190 COMMD5P1 COMMD5 pseudogene 1 pseudogene pseudogene Approved 4q12 04q12 2022-01-26 2022-01-26 101928879 ENSG00000173966 NG_073442 PGOHUM00000300207 +HGNC:24015 COMMD6 COMM domain containing 6 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 Acrg "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2018-11-15 170622 ENSG00000188243 OTTHUMG00000017089 uc058xmf.1 AY542161 NM_203497 "CCDS9451|CCDS9452" Q7Z4G1 15799966 MGI:1913450 RGD:1560745 612377 HGNC:24015 "ENST00000682242.1|NM_203495.4" +HGNC:16223 COMMD7 COMM domain containing 7 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 dJ1085F17.3 C20orf92 chromosome 20 open reading frame 92 "COMM domain containing|CCC complex" "979|1557" 2001-07-17 2004-02-18 2004-02-13 2016-10-05 149951 ENSG00000149600 OTTHUMG00000032229 uc002wya.5 AY542162 NM_053041 "CCDS42864|CCDS46587" Q86VX2 15799966 MGI:1914197 RGD:1307786 616703 HGNC:16223 "ENST00000278980.11|NM_053041.3" +HGNC:26036 COMMD8 COMM domain containing 8 protein-coding gene gene with protein product Approved 4p12 04p12 FLJ20502 "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2014-11-19 54951 ENSG00000169019 OTTHUMG00000099435 uc003gxi.4 AY542163 NM_017845 CCDS3475 Q9NX08 15799966 MGI:1343485 RGD:1305402 616656 HGNC:26036 "ENST00000381571.6|NM_017845.5" +HGNC:25014 COMMD9 COMM domain containing 9 protein-coding gene gene with protein product Approved 11p13 11p13 "HSPC166|FLJ31106" "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2014-11-18 29099 ENSG00000110442 OTTHUMG00000166333 uc001mwn.5 AY542164 NM_014186 "CCDS76395|CCDS44571|CCDS7900" Q9P000 15799966 MGI:1923751 RGD:1307706 612299 HGNC:25014 "ENST00000263401.10|NM_014186.4" +HGNC:30201 COMMD10 COMM domain containing 10 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 PTD002 "COMM domain containing|CCC complex" "979|1557" 2004-02-13 2016-10-25 51397 ENSG00000145781 OTTHUMG00000162922 uc003krt.2 AY542165 NM_016144 "CCDS34215|CCDS78049" Q9Y6G5 15799966 MGI:1916706 RGD:1303015 616704 HGNC:30201 "ENST00000274458.9|NM_016144.4" +HGNC:2227 COMP cartilage oligomeric matrix protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MED|THBS5" thrombospondin-5 "PSACH|EDM1|EPD1" cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) 1994-05-24 2016-10-05 1311 ENSG00000105664 OTTHUMG00000169318 uc002nke.4 L32137 NM_000095 CCDS12385 P49747 "7713493|8307576" MGI:88469 RGD:2378 600310 120763 HGNC:2227 "ENST00000222271.7|NM_000095.3" HGNC:2227 +HGNC:2228 COMT catechol-O-methyltransferase protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "MicroRNA protein coding host genes|7BS small molecule methyltransferases" "1691|2063" 2001-06-22 2021-04-13 1312 ENSG00000093010 OTTHUMG00000150529 uc002zqu.4 NM_000754 "CCDS13770|CCDS46663" P21964 1572656 MGI:88470 RGD:2379 LRG_1010|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1010.xml 116790 241992 objectId:2472 2.1.1.6 HGNC:2228 "ENST00000361682.11|NM_000754.4" HGNC:2228 +HGNC:26309 COMTD1 catechol-O-methyltransferase domain containing 1 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ23841 7BS small molecule methyltransferases 2063 2004-05-27 2015-08-24 118881 ENSG00000165644 OTTHUMG00000018518 uc001jxb.4 NM_144589 CCDS7349 Q86VU5 12975309 MGI:1916406 RGD:1306581 HGNC:26309 "ENST00000372538.8|NM_144589.4" +HGNC:17440 COP1 COP1 E3 ubiquitin ligase protein-coding gene gene with protein product Approved 1q25.1-q25.2 01q25.1-q25.2 "FLJ10416|RNF200|FAP78|CFAP78" constitutive photomorphogenic protein 1 (Arabidopsis) RFWD2 ring finger and WD repeat domain 2 "Ring finger proteins|WD repeat domain containing|Cilia and flagella associated|Small nucleolar RNA protein coding host genes" "58|362|1491|1835" 2005-01-13 2017-12-12 2019-01-21 2020-01-28 64326 ENSG00000143207 OTTHUMG00000034986 uc001gku.3 AK001278 NM_022457 "CCDS30944|CCDS44279" Q8NHY2 10395541 MGI:1347046 RGD:1304773 608067 HGNC:17440 "ENST00000367669.8|NM_022457.7" +HGNC:55666 COP1-DT COP1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 Divergent transcripts 1990 2021-06-30 2021-06-30 121832809 ENSG00000236021 +HGNC:31900 COP1P1 COP1 pseudogene 1 pseudogene pseudogene Approved 18p11.23 18p11.23 "RFWD2P|RFWD2P1" "ring finger and WD repeat domain 2 pseudogene|ring finger and WD repeat domain 2 pseudogene 1|ring finger and WD repeat domain 2, E3 ubiquitin protein ligase pseudogene 1" 2005-01-13 2019-02-25 2019-02-25 2020-04-20 729391 ENSG00000266613 OTTHUMG00000178931 NG_016737 PGOHUM00000294713 HGNC:31900 +HGNC:2230 COPA COPI coat complex subunit alpha protein-coding gene gene with protein product Approved 1q23.2 01q23.2 HEP-COP "proxenin|xenin" coatomer protein complex, subunit alpha "WD repeat domain containing|Receptor ligands|COPI coat complex" "362|542|1917" 1996-11-15 2019-09-27 2021-04-13 1314 ENSG00000122218 OTTHUMG00000033111 uc009wti.4 U24105 NM_004371 "CCDS41424|CCDS1202" P53621 8647451 MGI:1334462 RGD:1310525 LRG_1336|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1336.xml 601924 448689 ligandId:1587 HGNC:2230 "ENST00000241704.8|NM_004371.4" HGNC:2230 +HGNC:2231 COPB1 COPI coat complex subunit beta 1 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 COPB "coatomer protein complex, subunit beta|coatomer protein complex, subunit beta 1" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|COPI coat complex" "1493|1917" 1996-11-15 2006-06-30 2019-09-27 2019-09-27 1315 ENSG00000129083 OTTHUMG00000165824 uc001mli.3 BC037280 NM_016451 CCDS7815 P53618 7982906 MGI:1917599 RGD:620861 600959 HGNC:2231 "ENST00000439561.7|NM_001144061.2" +HGNC:2232 COPB2 COPI coat complex subunit beta 2 protein-coding gene gene with protein product Approved 3q23 03q23 "beta'-COP|betaprime-COP" coatomer protein complex subunit beta prime "coatomer protein complex, subunit beta 2 (beta prime)|coatomer protein complex subunit beta 2 (beta prime)" "WD repeat domain containing|COPI coat complex" "362|1917" 1999-04-23 2019-09-27 2019-09-27 9276 ENSG00000184432 OTTHUMG00000159959 uc003etf.5 BC000326 NM_004766 CCDS3108 P35606 9858824 MGI:1354962 RGD:628746 606990 HGNC:2232 "ENST00000333188.10|NM_004766.3" HGNC:2232 +HGNC:55579 COPB2-DT COPB2 divergent transcript non-coding RNA RNA, long non-coding Approved 3q23 03q23 Divergent transcripts 1990 2021-04-23 2021-04-23 100507291 ENSG00000248932 NR_121609 +HGNC:53171 COPDA1 chronic obstructive pulmonary disease associated lncRNA 1 non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 Long non-coding RNAs with non-systematic symbols 1992 2019-05-08 2019-05-08 115253418 ENSG00000253364 OTTHUMG00000164792 31050548 +HGNC:2234 COPE COPI coat complex subunit epsilon protein-coding gene gene with protein product Approved 19p13.11 19p13.11 epsilon-COP coatomer protein complex, subunit epsilon COPI coat complex 1917 1999-09-28 2019-09-27 2019-09-27 11316 ENSG00000105669 OTTHUMG00000183052 uc002nkk.4 AJ131182 NM_007263 "CCDS12388|CCDS12387|CCDS12389|CCDS82321" O14579 10469566 MGI:1891702 RGD:1306785 606942 HGNC:2234 "ENST00000262812.9|NM_007263.4" +HGNC:2236 COPG1 COPI coat complex subunit gamma 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 coat protein gamma-cop COPG "coatomer protein complex, subunit gamma|coatomer protein complex, subunit gamma 1" "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|MicroRNA protein coding host genes|COPI coat complex" "1493|1691|1917" 1999-09-28 2012-02-23 2019-09-27 2019-09-27 22820 ENSG00000181789 OTTHUMG00000159451 uc003els.4 AB047846 NM_016128 CCDS33851 Q9Y678 11056392 MGI:1858696 RGD:1565292 615525 470118 HGNC:2236 "ENST00000314797.10|NM_016128.4" +HGNC:2237 COPG2 COPI coat complex subunit gamma 2 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 2-COP coat protein, nonclathrin, gamma-2-cop coatomer protein complex, subunit gamma 2 "Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|COPI coat complex" "1493|1917" 1999-12-17 2019-09-27 2019-09-27 26958 ENSG00000158623 OTTHUMG00000155364 uc033ahl.2 AF157833 NM_012133 "CCDS75662|CCDS78275" Q9UBF2 "10556286|10995575" MGI:1858683 RGD:1566215 604355 HGNC:2237 "ENST00000425248.5|NM_012133.6" +HGNC:2238 COPG2IT1 COPG2 imprinted transcript 1 non-coding RNA RNA, long non-coding Approved 7q32.2 07q32.2 "CIT1|NCRNA00170|COPG2AS" "non-protein coding RNA 170|COPG2 antisense RNA (non-protein coding)|Copg2 intronic transcript 1" "coatomer protein complex, subunit gamma 2, intronic transcript 1|COPG2 imprinted transcript 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2000-05-19 2009-01-29 2018-05-16 2021-01-18 53844 ENSG00000286214 AF038190 NR_024086 10995575 610581 HGNC:2238 +HGNC:28848 COPRS coordinator of PRMT5 and differentiation stimulator protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "TTP1|HSA272196|COPR5" cooperator of PRMT5 C17orf79 "chromosome 17 open reading frame 79|coordinator of PRMT5, differentiation stimulator" 2006-01-26 2012-11-16 2016-04-12 2016-04-12 55352 ENSG00000172301 OTTHUMG00000132812 uc002hgp.4 AJ272196 NM_018405 "CCDS11268|CCDS82100" Q9NQ92 "10843809|18404153" MGI:1913673 RGD:1565675 HGNC:28848 "ENST00000302362.11|NM_018405.4" +HGNC:54677 COPRSP1 COPRS pseudogene 1 pseudogene pseudogene Approved 2q22.1 02q22.1 2019-11-27 2020-01-21 100420772 ENSG00000236440 NG_023613 +HGNC:30747 COPS2 COP9 signalosome subunit 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "TRIP15|ALIEN|CSN2" COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) COP9 signalosome 932 2004-11-03 2013-03-14 2020-01-06 9318 ENSG00000166200 OTTHUMG00000172324 uc001zxf.4 AF212227 NM_004236 "CCDS32235|CCDS45257" P61201 "7776974|9535219" MGI:1330276 RGD:628791 604508 HGNC:30747 "ENST00000388901.10|NM_004236.4" +HGNC:2239 COPS3 COP9 signalosome subunit 3 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "SGN3|CSN3" "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3|COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)" COP9 signalosome 932 1998-10-06 2013-03-14 2014-11-19 8533 ENSG00000141030 OTTHUMG00000059281 uc002grd.4 AF031647 NM_001199125 "CCDS11183|CCDS56022" Q9UNS2 "9535219|10191102" MGI:1349409 RGD:1303002 604665 HGNC:2239 "ENST00000268717.10|NM_003653.4" +HGNC:16702 COPS4 COP9 signalosome subunit 4 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 CSN4 "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4|COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)" COP9 signalosome 932 2001-09-27 2013-03-14 2015-08-24 51138 ENSG00000138663 OTTHUMG00000130298 uc003hoa.4 AF100757 NM_001258006 "CCDS3600|CCDS58909|CCDS82935" Q9BT78 9707402 MGI:1349414 RGD:1302952 616008 HGNC:16702 "ENST00000264389.7|NM_016129.3" +HGNC:2240 COPS5 COP9 signalosome subunit 5 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "JAB1|SGN5|MOV-34|CSN5" "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5|COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)" "COP9 signalosome |JAMM/MPN+ metallopeptidase family" "932|999" 2000-06-08 2013-03-14 2013-03-14 10987 ENSG00000121022 OTTHUMG00000164563 uc003xxe.4 U65928 NM_006837 CCDS6198 Q92905 "8837781|9341143" MGI:1349415 RGD:1310301 604850 M67.002 HGNC:2240 "ENST00000357849.9|NM_006837.3" +HGNC:24332 COPS5P1 COP9 signalosome subunit 5 pseudogene 1 pseudogene pseudogene Approved 6q16.1 06q16.1 COPS5P COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) pseudogene 2007-07-31 2013-03-14 2013-03-14 2016-07-22 135270 ENSG00000213187 OTTHUMG00000015226 NG_003102 PGOHUM00000301476 HGNC:24332 +HGNC:45266 COPS5P2 COP9 signalosome subunit 5 pseudogene 2 pseudogene pseudogene Approved 12q24.31 12q24.31 2013-03-14 2020-04-06 112268476 ENSG00000270445 OTTHUMG00000184772 NG_066008 PGOHUM00000291484 HGNC:45266 +HGNC:21749 COPS6 COP9 signalosome subunit 6 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MOV34-34KD|CSN6" COP9 subunit 6 (MOV34 homolog, 34 kD) COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) "COP9 signalosome |JAMM/MPN+ metallopeptidase family" "932|999" 2003-10-28 2013-03-14 2022-01-11 10980 ENSG00000168090 OTTHUMG00000154632 uc003usu.4 BC002520 NM_006833 CCDS5682 Q7L5N1 25144743 MGI:1349439 RGD:1309919 614729 M67.972 HGNC:21749 "ENST00000303904.8|NM_006833.5" +HGNC:16758 COPS7A COP9 signalosome subunit 7A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 CSN7A "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A|COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)" COP9 signalosome 932 2001-10-03 2013-03-14 2015-08-24 50813 ENSG00000111652 OTTHUMG00000169182 uc001qqj.4 AF193844 NM_001164093 CCDS8558 Q9UBW8 MGI:1349400 RGD:1310070 616009 HGNC:16758 "ENST00000543155.6|NM_001164094.2" +HGNC:16760 COPS7B COP9 signalosome subunit 7B protein-coding gene gene with protein product Approved 2q37.1 02q37.1 CSN7B "COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B|COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)" COP9 signalosome 932 2001-10-03 2013-03-14 2014-11-18 64708 ENSG00000144524 OTTHUMG00000133228 uc061tnp.1 AK022674 NM_022730 "CCDS74668|CCDS63152|CCDS63153|CCDS2488|CCDS63154|CCDS77539" Q9H9Q2 9707402 MGI:1349388 RGD:1306918 616010 HGNC:16760 "ENST00000350033.8|NM_022730.4" +HGNC:24335 COPS8 COP9 signalosome subunit 8 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "COP9|CSN8|MGC1297|SGN8" COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) COP9 signalosome 932 2004-01-05 2013-03-14 2015-08-24 10920 ENSG00000198612 OTTHUMG00000133297 uc002vwh.4 NM_006710 "CCDS42835|CCDS2517" Q99627 "7634324|12732143" MGI:1915363 RGD:1311404 616011 HGNC:24335 "ENST00000354371.7|NM_006710.5" +HGNC:55816 COPS8-DT COPS8 divergent transcript non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Divergent transcripts 1990 2021-07-30 2021-07-30 122152364 ENSG00000227252 +HGNC:45269 COPS8P1 COP9 signalosome subunit 8 pseudogene 1 pseudogene pseudogene Approved Xq21.2 Xq21.2 2013-03-15 2020-05-21 260342 ENSG00000271290 NG_012817 PGOHUM00000241426 HGNC:45269 +HGNC:45270 COPS8P2 COP9 signalosome subunit 8 pseudogene 2 pseudogene pseudogene Approved 3p14.1 03p14.1 2013-03-15 2013-03-15 375350 ENSG00000214552 OTTHUMG00000158747 NG_003103 PGOHUM00000250284 HGNC:45270 +HGNC:45271 COPS8P3 COP9 signalosome subunit 8 pseudogene 3 pseudogene pseudogene Approved 11q14.1 11q14.1 2013-03-15 2013-03-15 106479058 ENSG00000254697 OTTHUMG00000166759 NG_044561 PGOHUM00000242812 HGNC:45271 +HGNC:21314 COPS9 COP9 signalosome subunit 9 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 CSNAP CSN acidic protein MYEOV2 myeloma overexpressed 2 2005-06-24 2016-04-19 2016-04-19 2016-04-19 150678 ENSG00000172428 OTTHUMG00000133352 uc010zof.2 AF453951 NM_138336 "CCDS2532|CCDS63183" Q8WXC6 "23776465|26456823" MGI:1914165 RGD:1596701 619349 HGNC:21314 "ENST00000607357.2|NM_001163424.2" +HGNC:2243 COPZ1 COPI coat complex subunit zeta 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 CGI-120 COPZ "coatomer protein complex, subunit zeta|coatomer protein complex, subunit zeta 1" "MicroRNA protein coding host genes|COPI coat complex" "1691|1917" 1999-09-28 2003-07-23 2019-09-27 2019-09-27 22818 ENSG00000111481 OTTHUMG00000169762 uc001sfs.3 AF151878 NM_016057 "CCDS61139|CCDS61137|CCDS8877|CCDS61138" P61923 MGI:1929063 RGD:1306154 615472 HGNC:2243 "ENST00000262061.7|NM_016057.3" +HGNC:19356 COPZ2 COPI coat complex subunit zeta 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 MGC23008 "nonclathrin coat protein zeta-COP|zeta2-COP|zeta-2 coat protein" coatomer protein complex, subunit zeta 2 "MicroRNA protein coding host genes|COPI coat complex" "1691|1917" 2002-10-09 2019-09-27 2019-09-27 51226 ENSG00000005243 OTTHUMG00000178684 uc032flu.2 AB037938 NM_016429 CCDS74092 Q9P299 11056392 MGI:1929008 RGD:1306948 615526 HGNC:19356 "ENST00000621465.5|NM_016429.4" +HGNC:25223 COQ2 coenzyme Q2, polyprenyltransferase protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "CL640|FLJ26072" 4-hydroxybenzoate polyprenyltransferase coenzyme Q2 homolog, prenyltransferase (yeast) 2005-07-05 2016-03-21 2021-05-26 27235 ENSG00000173085 OTTHUMG00000160940 uc003hog.3 NM_015697 "CCDS87234|CCDS47090" Q96H96 "15153069|17332895" MGI:1919133 RGD:1306722 609825 120770 2.5.1.39 HGNC:25223 "ENST00000647002.2|NM_001358921.2" HGNC:25223 +HGNC:18175 COQ3 coenzyme Q3, methyltransferase protein-coding gene gene with protein product Approved 6q16.2 06q16.2 bA9819.1 polyprenyldihydroxybenzoate methyltransferase "coenzyme Q3 homolog, methyltransferase (yeast)|coenzyme Q3 homolog, methyltransferase (S. cerevisiae)" 7BS small molecule methyltransferases 2063 2002-11-22 2016-03-21 2016-10-05 51805 ENSG00000132423 OTTHUMG00000015264 uc003ppk.4 AF193016 NM_017421 CCDS5042 Q9NZJ6 10777520 MGI:101813 RGD:2380 605196 470124 2.1.1.114 HGNC:18175 "ENST00000254759.8|NM_017421.4" +HGNC:19693 COQ4 coenzyme Q4 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 CGI-92 "coenzyme Q4 homolog (yeast)|coenzyme Q4 homolog (S. cerevisiae)" 2003-01-10 2013-10-18 2021-05-26 51117 ENSG00000167113 OTTHUMG00000020743 uc004bur.5 AF151850 NM_016035 CCDS6898 Q9Y3A0 "11469793|18474229" MGI:1098826 RGD:1304638 612898 460622 HGNC:19693 "ENST00000300452.8|NM_016035.5" HGNC:19693 +HGNC:28722 COQ5 coenzyme Q5, methyltransferase protein-coding gene gene with protein product Approved 12q24.31 12q24.31 MGC4767 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase "coenzyme Q5 homolog, methyltransferase (yeast)|coenzyme Q5 homolog, methyltransferase (S. cerevisiae)" 7BS small molecule methyltransferases 2063 2006-01-13 2015-07-02 2021-05-26 84274 ENSG00000110871 OTTHUMG00000169375 uc001tyn.4 AK057777 NM_032314 CCDS31912 Q5HYK3 25152161 MGI:1098643 RGD:1310857 616359 470126 2.1.1.201 HGNC:28722 "ENST00000288532.11|NM_032314.4" +HGNC:20233 COQ6 coenzyme Q6, monooxygenase protein-coding gene gene with protein product Approved 14q24.3 14q24.3 CGI-10 "coenzyme Q6 homolog (yeast)|coenzyme Q6 homolog, monooxygenase (yeast)|coenzyme Q6 homolog, monooxygenase (S. cerevisiae)|coenzyme Q6 monooxygenase" 2003-01-10 2016-03-21 2021-05-26 51004 ENSG00000119723 OTTHUMG00000171260 uc001xph.4 AF132944 NM_182476 "CCDS9824|CCDS9823" Q9Y2Z9 21540551 MGI:1924408 RGD:1311149 614647 280409 1.14.13.- HGNC:20233 "ENST00000334571.7|NM_182476.3" HGNC:20233 +HGNC:2244 COQ7 coenzyme Q7, hydroxylase protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "CLK-1|CAT5" 5-demethoxyubiquinone hydroxylase "coenzyme Q, 7 (rat, yeast) homolog|coenzyme Q7 homolog, ubiquinone (yeast)" 1998-09-29 2016-03-21 2021-05-26 10229 ENSG00000167186 OTTHUMG00000131455 uc002dfr.4 U81276 NM_016138 "CCDS10574|CCDS53993" Q99807 "9020081|10373325" MGI:107207 RGD:2381 601683 470128 HGNC:2244 "ENST00000321998.10|NM_016138.5" HGNC:2244 +HGNC:55362 COQ7-DT COQ7 divergent transcript non-coding RNA RNA, long non-coding Approved 16p12.3 16p12.3 Divergent transcripts 1990 2020-11-11 2020-11-11 102723385 ENSG00000261465 NR_119382 +HGNC:16812 COQ8A coenzyme Q8A protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "COQ8|SCAR9" coenzyme Q8 homolog (yeast) "CABC1|ADCK3" "chaperone-ABC1 (activity of bc1 complex, S.pombe)-like|chaperone, ABC1 activity of bc1 complex like (S. pombe)|chaperone, ABC1 activity of bc1 complex homolog (S. pombe)|aarF domain containing kinase 3" 2001-10-31 2016-07-07 2016-07-07 2021-04-13 56997 ENSG00000163050 OTTHUMG00000037621 uc001hqm.2 AJ278126 NM_020247 CCDS1557 Q8NI60 "18319072|18319074|25498144" MGI:1914676 RGD:1308245 LRG_1092|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1092.xml 606980 140053 objectId:1927 HGNC:16812 "ENST00000366777.4|NM_020247.5" HGNC:16812 +HGNC:19041 COQ8B coenzyme Q8B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ12229|COQ8" ADCK4 aarF domain containing kinase 4 2003-07-21 2016-07-07 2016-07-07 2016-07-07 79934 ENSG00000123815 OTTHUMG00000182620 uc002oor.2 AK022291 NM_024876 "CCDS46081|CCDS12562" Q96D53 24270420 MGI:1924139 RGD:1311356 615567 376599 objectId:1928 HGNC:19041 "ENST00000324464.8|NM_024876.4" HGNC:19041 +HGNC:25302 COQ9 coenzyme Q9 protein-coding gene gene with protein product Approved 16q21 16q21 DKFZP434K046 C16orf49 "chromosome 16 open reading frame 49|coenzyme Q9 homolog (yeast)|coenzyme Q9 homolog (S. cerevisiae)" 2005-03-09 2006-01-13 2013-10-18 2021-05-26 57017 ENSG00000088682 OTTHUMG00000176582 uc002elq.4 BC064946 NM_020312 CCDS32459 O75208 19375058 MGI:1915164 RGD:1586040 612837 201526 HGNC:25302 "ENST00000262507.11|NM_020312.4" HGNC:25302 +HGNC:26515 COQ10A coenzyme Q10A protein-coding gene gene with protein product Approved 12q13.3 12q13.3 FLJ32452 "coenzyme Q10 homolog A (yeast)|coenzyme Q10 homolog A (S. cerevisiae)" 2006-01-13 2015-06-19 2015-06-19 93058 ENSG00000135469 OTTHUMG00000170283 uc001sko.5 AK057003 NM_144576 "CCDS44921|CCDS41796" Q96MF6 MGI:2684847 RGD:1562447 470120 HGNC:26515 "ENST00000308197.10|NM_144576.4" +HGNC:25819 COQ10B coenzyme Q10B protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ13448 "coenzyme Q10 homolog B (yeast)|coenzyme Q10 homolog B (S. cerevisiae)" 2006-01-13 2015-06-19 2015-06-19 80219 ENSG00000115520 OTTHUMG00000132745 uc002uuh.2 AK023510 NM_025147 "CCDS82552|CCDS2319|CCDS82551" Q9H8M1 MGI:1915126 RGD:1359509 470122 HGNC:25819 "ENST00000263960.7|NM_025147.5" +HGNC:44912 COQ10BP1 coenzyme Q10B pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 coenzyme Q10 homolog B pseudogene 1 2012-12-18 2015-06-26 2015-06-26 100421150 NG_025419 PGOHUM00000238373 HGNC:44912 +HGNC:44913 COQ10BP2 coenzyme Q10B pseudogene 2 pseudogene pseudogene Approved 5q14.2 05q14.2 coenzyme Q10 homolog B pseudogene 2 2012-12-18 2015-06-26 2015-06-26 100421072 ENSG00000251552 OTTHUMG00000162567 NG_024606 PGOHUM00000235300 HGNC:44913 +HGNC:19012 CORIN corin, serine peptidase protein-coding gene gene with protein product Approved 4p12 04p12 "PRSC|CRN|ATC2|Lrp4|TMPRSS10" corin, serine protease "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2004-05-10 2005-08-17 2015-08-24 10699 ENSG00000145244 OTTHUMG00000099441 uc003gxm.5 AF133845 NM_001278585 "CCDS75122|CCDS3477|CCDS63958" Q9Y5Q5 10329693 MGI:1349451 RGD:727887 605236 434292 S01.019 HGNC:19012 "ENST00000273857.9|NM_006587.4" +HGNC:2252 CORO1A coronin 1A protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "HCORO1|p57|coronin-1" Clabp TACO coronin, actin-binding protein, 1A "WD repeat domain containing|Coronins" "362|495" 1999-10-19 2016-01-15 2021-05-26 11151 ENSG00000102879 OTTHUMG00000132148 uc002dww.4 X89109 NM_007074 CCDS10673 P31146 9778037 MGI:1345961 RGD:620009 LRG_195|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_195.xml 605000 179462 HGNC:2252 "ENST00000219150.10|NM_007074.4" HGNC:2252 +HGNC:55367 CORO1A-AS1 CORO1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Antisense RNAs 1987 2020-11-11 2020-11-11 107984834 ENSG00000261416 +HGNC:2253 CORO1B coronin 1B protein-coding gene gene with protein product Approved 11q13.2 11q13.2 coronin-2 coronin, actin-binding protein, 1B "WD repeat domain containing|Coronins" "362|495" 1999-10-19 2016-01-15 2016-10-05 57175 ENSG00000172725 OTTHUMG00000167775 uc001oll.3 AK000860 NM_020441 CCDS8164 Q9BR76 9778037 MGI:1345963 RGD:2382 609849 HGNC:2253 "ENST00000341356.10|NM_020441.3" +HGNC:2254 CORO1C coronin 1C protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "coronin-3|HCRNN4" coronin, actin-binding protein, 1C "WD repeat domain containing|Coronins" "362|495" 1999-10-19 2016-01-15 2016-10-05 23603 ENSG00000110880 OTTHUMG00000169381 uc001tnj.6 BC002342 NM_014325 "CCDS9120|CCDS61236" Q9ULV4 "9778037|10461187" MGI:1345964 RGD:1564490 605269 HGNC:2254 "ENST00000261401.8|NM_014325.4" +HGNC:55002 CORO1CP1 CORO1C pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 100420760 ENSG00000270268 NG_026725 +HGNC:2255 CORO2A coronin 2A protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "IR10|WDR2" "coronin 2A|coronin-like protein B|WD protein IR10|WD-repeat protein 2" coronin, actin-binding protein, 2A "WD repeat domain containing|Coronins" "362|495" 1998-03-02 2016-01-15 2016-10-05 7464 ENSG00000106789 OTTHUMG00000020340 uc004aym.4 U57057 NM_003389 CCDS6735 Q92828 8985118 MGI:1345966 RGD:1309719 602159 HGNC:2255 "ENST00000375077.5|NM_052820.4" +HGNC:2256 CORO2B coronin 2B protein-coding gene gene with protein product Approved 15q23 15q23 "ClipinC|KIAA0925" "clipin C|coronin, actin-binding, 2B" coronin, actin-binding protein, 2B "WD repeat domain containing|Coronins" "362|495" 1999-10-19 2016-01-15 2016-10-05 10391 ENSG00000103647 OTTHUMG00000133288 uc059krt.1 AB010098 NM_006091 "CCDS10229|CCDS53952" Q9UQ03 "10224093|10231032" MGI:2444283 RGD:1561953 605002 HGNC:2256 "ENST00000261861.10|NM_006091.5" +HGNC:21356 CORO6 coronin 6 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FLJ14871 "WD repeat domain containing|Coronins" "362|495" 2004-10-13 2015-09-11 84940 ENSG00000167549 OTTHUMG00000132732 uc060dkh.1 AF193039 NM_032854 CCDS11252 Q6QEF8 MGI:2183448 RGD:708560 HGNC:21356 "ENST00000388767.8|NM_032854.4" +HGNC:26161 CORO7 coronin 7 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ22021 "WD repeat domain containing|Coronins" "362|495" 2004-10-13 2014-11-19 79585 ENSG00000262246 OTTHUMG00000129465 uc002cwh.5 AK097238 NM_024535 "CCDS55982|CCDS10513|CCDS58417" P57737 15327992 MGI:1926135 RGD:621591 611668 HGNC:26161 "ENST00000251166.9|NM_024535.5" +HGNC:44424 CORO7-PAM16 CORO7-PAM16 readthrough other readthrough Approved 16p13.3 16p13.3 2012-10-03 2012-10-08 100529144 ENSG00000103426 OTTHUMG00000177664 uc002cwf.4 NM_001201479 CCDS58418 MGI:1926135 HGNC:44424 +HGNC:2257 CORT cortistatin protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "MGC32686|SST2" "prepro-cortistatin|somatostatin 2" Receptor ligands 542 1997-05-15 2020-10-06 1325 ENSG00000241563 OTTHUMG00000001906 uc001ari.5 AF013252 NM_001302 CCDS117 O00230 9205124 MGI:109538 RGD:2383 602784 ligandId:2008 HGNC:2257 "ENST00000377049.4|NM_001302.5" +HGNC:51610 COSMOC cell fate and sterol metabolism associated divergent transcript of MOCOS non-coding RNA RNA, long non-coding Approved 18q12.2 18q12.2 Long non-coding RNAs with non-systematic symbols 1992 2020-07-02 2020-07-02 101927809 ENSG00000260552 OTTHUMG00000176168 NR_134605 32327736 +HGNC:18304 COTL1 coactosin like F-actin binding protein 1 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 CLP "coactosin-like 1 (Dictyostelium)|coactosin-like F-actin binding protein 1" 2002-07-22 2002-08-01 2016-03-17 2016-03-17 23406 ENSG00000103187 OTTHUMG00000137634 uc002fid.5 L54057 NM_021149 CCDS10947 Q14019 "10051563|9326934|16924104" MGI:1919292 RGD:1305498 606748 HGNC:18304 "ENST00000262428.5|NM_021149.5" +HGNC:2086 COTL1P1 COTL1 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 CLPSMCR "coactosin-like, Smith Magenis syndrome chromosome region|coactosin-like 1 (Dictyostelium) pseudogene 1" 2000-01-20 2010-04-30 2019-02-18 2019-02-18 27170 ENSG00000229749 OTTHUMG00000059172 NG_001537 10615134 PGOHUM00000237243 HGNC:2086 +HGNC:24322 COTL1P2 COTL1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 CLPSMCR "coactosin-like 1 (Dictyostelium) pseudogene 2|coactosin-like F-actin binding protein 1 pseudogene 2" 2004-02-05 2019-02-18 2019-02-18 347720 ENSG00000235323 OTTHUMG00000130733 NG_002773 11997339 PGOHUM00000237289 HGNC:24322 +HGNC:2265 COX4I1 cytochrome c oxidase subunit 4I1 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "COX4-1|COXIV|COXIV-1" COX4 "cytochrome c oxidase subunit IV|cytochrome c oxidase subunit IV isoform 1" Mitochondrial complex IV: cytochrome c oxidase subunits 643 2001-06-22 2001-12-07 2016-02-11 2021-10-25 1327 ENSG00000131143 OTTHUMG00000137649 uc059yaj.1 AF005889 NM_001861 "CCDS10955|CCDS82020" P13073 "2444497|2157630|20413852" MGI:88473 RGD:68374 123864 HGNC:2265 "ENST00000253452.8|NM_001861.6" HGNC:2265 +HGNC:2266 COX4I1P1 cytochrome c oxidase subunit 4I1 pseudogene 1 pseudogene pseudogene Approved 14q23.2 14q23.2 "COX4P1|COX4L1" "cytochrome c oxidase subunit IV pseudogene 1|cytochrome c oxidase subunit IV isoform 1 pseudogene 1" 1986-01-01 2001-12-07 2016-02-11 2020-04-20 122867 ENSG00000258956 OTTHUMG00000171139 NG_017086 PGOHUM00000247822 HGNC:2266 +HGNC:38036 COX4I1P2 cytochrome c oxidase subunit 4I1 pseudogene 2 pseudogene pseudogene Approved 13q14.13 13q14.13 cytochrome c oxidase subunit IV isoform 1 pseudogene 2 2010-03-23 2016-02-11 2016-02-11 652170 ENSG00000228869 OTTHUMG00000016858 NG_011339 PGOHUM00000262205 HGNC:38036 +HGNC:16232 COX4I2 cytochrome c oxidase subunit 4I2 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "COXIV-2|COX4B|dJ857M17.2|COX4-2" cytochrome c oxidase subunit IV-like 2 COX4L2 "cytochrome c oxidase subunit IV isoform 2|cytochrome c oxidase subunit IV isoform 2 (lung)" Mitochondrial complex IV: cytochrome c oxidase subunits 643 2001-12-03 2016-02-11 2021-05-26 84701 ENSG00000131055 OTTHUMG00000032180 uc002wwj.2 AF257180 NM_032609 CCDS13187 Q96KJ9 "11311561|17937768" MGI:2135755 RGD:69422 607976 201488 HGNC:16232 "ENST00000376075.4|NM_032609.3" HGNC:16232 +HGNC:2267 COX5A cytochrome c oxidase subunit 5A protein-coding gene gene with protein product Approved 15q24.2 15q24.2 cytochrome c oxidase subunit Va Mitochondrial complex IV: cytochrome c oxidase subunits 643 1998-12-11 2016-02-11 2016-10-05 9377 ENSG00000178741 OTTHUMG00000142825 uc002azi.5 M22760 NM_004255 CCDS10273 P20674 "10072584|2853101" MGI:88474 RGD:620607 603773 1.9.3.1 HGNC:2267 "ENST00000322347.11|NM_004255.4" HGNC:2267 +HGNC:2268 COX5AP1 cytochrome c oxidase subunit 5A pseudogene 1 pseudogene pseudogene Approved 14q22.3 14q22.3 cytochrome c oxidase subunit Va pseudogene 1 1998-12-11 2005-04-11 2016-02-11 2020-04-07 9385 ENSG00000271180 OTTHUMG00000184534 AF042162 NG_001220 10072584 HGNC:2268 +HGNC:20005 COX5AP2 cytochrome c oxidase subunit 5A pseudogene 2 pseudogene pseudogene Approved 14q22.1 14q22.1 cytochrome c oxidase subunit Va pseudogene 2 2003-01-13 2016-02-11 2016-02-11 319087 ENSG00000258981 OTTHUMG00000171088 NG_002477 PGOHUM00000248170 HGNC:20005 +HGNC:2269 COX5B cytochrome c oxidase subunit 5B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 cytochrome c oxidase subunit Vb Mitochondrial complex IV: cytochrome c oxidase subunits 643 1991-06-04 2016-02-11 2016-02-11 1329 ENSG00000135940 OTTHUMG00000130548 uc002sya.4 BC006229 NM_001862 CCDS2032 P10606 MGI:88475 RGD:620608 123866 1.9.3.1 HGNC:2269 "ENST00000258424.3|NM_001862.3" +HGNC:2270 COX5BP1 cytochrome c oxidase subunit 5B pseudogene 1 pseudogene pseudogene Approved 4q21.22 04q21.22 COX5BL1 "cytochrome c oxidase subunit Vb-like 1|cytochrome c oxidase subunit Vb pseudogene 1" 1991-06-06 2010-10-11 2016-02-11 2016-10-05 1330 ENSG00000248448 OTTHUMG00000160936 NG_003010 1646156 PGOHUM00000245610 HGNC:2270 +HGNC:2271 COX5BP2 cytochrome c oxidase subunit 5B pseudogene 2 pseudogene pseudogene Approved 6q23.3 06q23.3 COX5BL2 "cytochrome c oxidase subunit Vb-like 2|cytochrome c oxidase subunit Vb pseudogene 2" 1991-06-06 2010-10-11 2016-02-11 2016-02-11 1331 ENSG00000213111 OTTHUMG00000015638 NG_011994 PGOHUM00000243387 HGNC:2271 +HGNC:2272 COX5BP3 cytochrome c oxidase subunit 5B pseudogene 3 pseudogene pseudogene Approved 7q33 07q33 COX5BL3 "cytochrome c oxidase subunit Vb-like 3|cytochrome c oxidase subunit Vb pseudogene 3" 1991-06-06 2010-10-11 2016-02-11 2016-02-11 1332 ENSG00000235967 OTTHUMG00000155234 NG_028677 PGOHUM00000233001 HGNC:2272 +HGNC:2273 COX5BP4 cytochrome c oxidase subunit 5B pseudogene 4 pseudogene pseudogene Approved 11q14.1 11q14.1 COX5BL4 "cytochrome c oxidase subunit Vb-like 4|cytochrome c oxidase subunit Vb pseudogene 4" 1991-06-06 2010-10-11 2016-02-11 2020-04-07 1333 ENSG00000255010 OTTHUMG00000167013 NG_028804 PGOHUM00000242385 HGNC:2273 +HGNC:2274 COX5BP5 cytochrome c oxidase subunit 5B pseudogene 5 pseudogene pseudogene Approved 12q13.12 12q13.12 COX5BL5 "cytochrome c oxidase subunit Vb-like 5|cytochrome c oxidase subunit Vb pseudogene 5" 1991-06-06 2010-10-11 2016-02-11 2020-04-20 100288440 NG_028197 PGOHUM00000239772 HGNC:2274 +HGNC:2275 COX5BP6 cytochrome c oxidase subunit 5B pseudogene 6 pseudogene pseudogene Approved 13q32.3 13q32.3 COX5BL6 "cytochrome c oxidase subunit Vb-like 6|cytochrome c oxidase subunit Vb pseudogene 6" 1991-06-06 2010-10-11 2016-02-11 2020-04-20 101234262 ENSG00000237082 OTTHUMG00000017290 NG_033121 PGOHUM00000248486 HGNC:2275 +HGNC:2276 COX5BP7 cytochrome c oxidase subunit 5B pseudogene 7 pseudogene pseudogene Approved 22q13.1 22q13.1 COX5BL7 "cytochrome c oxidase subunit Vb-like 7|cytochrome c oxidase subunit Vb pseudogene 7" 1991-06-06 2010-10-11 2016-02-11 2016-02-11 1336 ENSG00000226024 OTTHUMG00000151028 NG_002633 PGOHUM00000246333 HGNC:2276 +HGNC:39083 COX5BP8 cytochrome c oxidase subunit 5B pseudogene 8 pseudogene pseudogene Approved 1q25.2 01q25.2 cytochrome c oxidase subunit Vb pseudogene 8 2010-10-11 2016-02-11 2016-02-11 100859925 ENSG00000223794 OTTHUMG00000041099 NG_031947 PGOHUM00000245102 HGNC:39083 +HGNC:2277 COX6A1 cytochrome c oxidase subunit 6A1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 COX6AL cytochrome c oxidase subunit VIa liver isoform COX6A cytochrome c oxidase subunit VIa polypeptide 1 Mitochondrial complex IV: cytochrome c oxidase subunits 643 1990-06-11 2016-02-11 2021-10-19 1337 ENSG00000111775 OTTHUMG00000047791 uc001tyf.2 X15341 NM_004373 CCDS9197 P12074 9284905 MGI:103099 RGD:2384 602072 444671 HGNC:2277 "ENST00000229379.3|NM_004373.4" HGNC:2277 +HGNC:2278 COX6A1P1 cytochrome c oxidase subunit 6A1 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 COX6A1P "cytochrome c oxidase subunit VIa polypeptide 1 pseudogene|cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 1" 1996-12-18 2009-11-25 2016-02-11 2016-02-11 1338 U82486 NG_001105 "9177785|9284905" HGNC:2278 +HGNC:35239 COX6A1P2 cytochrome c oxidase subunit 6A1 pseudogene 2 pseudogene pseudogene Approved 6p21.2 06p21.2 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 2 2008-10-28 2016-02-11 2016-02-11 285849 ENSG00000226976 OTTHUMG00000014615 NG_004806 HGNC:35239 +HGNC:37633 COX6A1P3 cytochrome c oxidase subunit 6A1 pseudogene 3 pseudogene pseudogene Approved 6q22.31 06q22.31 cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 3 2009-11-26 2016-02-11 2016-02-11 100287768 ENSG00000216710 OTTHUMG00000015473 NG_016160 PGOHUM00000243758 HGNC:37633 +HGNC:2279 COX6A2 cytochrome c oxidase subunit 6A2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "COX6AH|COXVIAH|COXVIa-M" cytochrome c oxidase subunit VIa polypeptide 2 Mitochondrial complex IV: cytochrome c oxidase subunits 643 1994-01-15 2016-02-11 2021-10-20 1339 ENSG00000156885 OTTHUMG00000132463 uc002ebx.2 "U66875|M83308" NM_005205 CCDS10712 Q02221 "1327966|9177785" MGI:104649 RGD:2385 602009 HGNC:2279 "ENST00000287490.5|NM_005205.4" HGNC:2279 +HGNC:2280 COX6B1 cytochrome c oxidase subunit 6B1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 COXG COX6B "cytochrome c oxidase subunit Vib|cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)|cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)" Mitochondrial complex IV: cytochrome c oxidase subunits 643 1991-09-11 2004-08-12 2016-02-11 2021-05-26 1340 ENSG00000126267 OTTHUMG00000048112 uc002oav.4 BC001015 NM_001863 CCDS12469 P14854 1650756 MGI:107460 RGD:1584097 LRG_1246|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1246.xml 124089 167892 1.9.3.1 HGNC:2280 "ENST00000649813.2|NM_001863.5" HGNC:2280 +HGNC:2281 COX6B1P1 cytochrome c oxidase subunit 6B1 pseudogene 1 pseudogene pseudogene Approved 7q36.1 07q36.1 COX6BP1 "cytochrome c oxidase subunit VIb pseudogene 1 (HCOX52)|cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 1" 1991-12-02 2010-01-07 2016-02-12 2016-02-12 140603 ENSG00000234565 OTTHUMG00000151504 M38259 NG_007348 "1651883|1651884" PGOHUM00000233640 HGNC:2281 +HGNC:2282 COX6B1P2 cytochrome c oxidase subunit 6B1 pseudogene 2 pseudogene pseudogene Approved 17q21.32 17q21.32 COX6BP2 "cytochrome c oxidase subunit VIb pseudogene 2|cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 2" 1991-12-02 2010-01-07 2016-02-12 2016-02-12 1342 ENSG00000241788 OTTHUMG00000159901 M38260 NG_005205 "1651883|1651884" PGOHUM00000237426 HGNC:2282 +HGNC:2283 COX6B1P3 cytochrome c oxidase subunit 6B1 pseudogene 3 pseudogene pseudogene Approved 22q13.1 22q13.1 COX6BP3 "cytochrome c oxidase subunit VIb pseudogene 3|cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 3" 1992-02-14 2010-01-07 2016-02-12 2016-10-05 1343 ENSG00000172912 OTTHUMG00000151144 M38261 NG_005206 1651884 PGOHUM00000246592 HGNC:2283 +HGNC:2284 COX6B1P4 cytochrome c oxidase subunit 6B1 pseudogene 4 pseudogene pseudogene Approved 8p21.2 08p21.2 COX6BP4 "cytochrome c oxidase subunit VIb pseudogene 4|cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 4" 1992-02-14 2010-01-07 2016-02-12 2016-02-12 100462850 ENSG00000253813 OTTHUMG00000163885 NG_029395 "1651883|1651884" PGOHUM00000263882 HGNC:2284 +HGNC:37675 COX6B1P5 cytochrome c oxidase subunit 6B1 pseudogene 5 pseudogene pseudogene Approved 4p16.3 04p16.3 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 5 2010-01-07 2016-02-12 2016-02-12 100289662 ENSG00000249047 OTTHUMG00000159816 NG_016561 PGOHUM00000263816 HGNC:37675 +HGNC:37676 COX6B1P6 cytochrome c oxidase subunit 6B1 pseudogene 6 pseudogene pseudogene Approved 8q21.3 08q21.3 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 6 2010-01-07 2016-02-12 2016-02-12 100462851 ENSG00000253349 OTTHUMG00000163810 NG_022396 PGOHUM00000263884 HGNC:37676 +HGNC:37677 COX6B1P7 cytochrome c oxidase subunit 6B1 pseudogene 7 pseudogene pseudogene Approved 1p31.3 01p31.3 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 7 2010-01-07 2016-02-12 2016-02-12 100133210 ENSG00000225242 OTTHUMG00000009209 NG_022782 PGOHUM00000244751 HGNC:37677 +HGNC:24380 COX6B2 cytochrome c oxidase subunit 6B2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "COXVIB2|FLJ32865|CT59" "cytochrome c oxidase subunit VIb, testes specific|cancer/testis antigen 59" cytochrome c oxidase subunit VIb polypeptide 2 (testis) Mitochondrial complex IV: cytochrome c oxidase subunits 643 2004-08-11 2016-02-11 2020-01-06 125965 ENSG00000160471 OTTHUMG00000180774 uc061czx.1 AK057427 NM_144613 CCDS42630 Q6YFQ2 12874793 MGI:3044182 RGD:1591896 618127 HGNC:24380 "ENST00000326529.9|NM_144613.5" +HGNC:2285 COX6C cytochrome c oxidase subunit 6C protein-coding gene gene with protein product Approved 8q22.2 08q22.2 cytochrome c oxidase subunit VIc Mitochondrial complex IV: cytochrome c oxidase subunits 643 1989-05-08 2016-02-11 2016-02-11 1345 ENSG00000164919 OTTHUMG00000164703 uc003yiy.3 X13238 NM_004374 CCDS6284 P09669 10072584 MGI:104614 RGD:620616 124090 1.9.3.1 HGNC:2285 "ENST00000520468.7|NM_004374.4" +HGNC:2286 COX6CP1 cytochrome c oxidase subunit 6C pseudogene 1 pseudogene pseudogene Approved 16p13.13 16p13.13 cytochrome c oxidase subunit VIc pseudogene 1 1998-12-11 2016-02-12 2016-10-05 9384 ENSG00000260318 OTTHUMG00000172958 AF042163 NG_001219 10072584 PGOHUM00000293423 HGNC:2286 +HGNC:16600 COX6CP2 cytochrome c oxidase subunit 6C pseudogene 2 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ894K16.1 cytochrome c oxidase subunit VIc pseudogene 2 2001-09-17 2016-02-12 2016-07-22 170504 ENSG00000231715 OTTHUMG00000032722 AL034429 NG_001033 PGOHUM00000297138 HGNC:16600 +HGNC:31721 COX6CP3 cytochrome c oxidase subunit 6C pseudogene 3 pseudogene pseudogene Approved 18p11.32 18p11.32 cytochrome c oxidase subunit VIc pseudogene 3 2011-03-31 2016-02-12 2016-07-22 100130247 ENSG00000266251 OTTHUMG00000178369 NG_012734 PGOHUM00000294563 HGNC:31721 +HGNC:32374 COX6CP4 cytochrome c oxidase subunit 6C pseudogene 4 pseudogene pseudogene Approved 15q14 15q14 cytochrome c oxidase subunit VIc pseudogene 4 2005-11-03 2016-02-12 2016-07-22 100288892 ENSG00000270500 OTTHUMG00000184862 NG_012732 PGOHUM00000293214 HGNC:32374 +HGNC:42791 COX6CP5 cytochrome c oxidase subunit 6C pseudogene 5 pseudogene pseudogene Approved 11p15.4 11p15.4 cytochrome c oxidase subunit VIc pseudogene 5 2011-08-19 2016-02-12 2016-07-22 100862855 ENSG00000254642 OTTHUMG00000165674 NG_032147 PGOHUM00000290816 HGNC:42791 +HGNC:47037 COX6CP6 cytochrome c oxidase subunit 6C pseudogene 6 pseudogene pseudogene Approved 3p13 03p13 cytochrome c oxidase subunit VIc pseudogene 6 2013-04-04 2016-02-12 2016-07-22 100289131 ENSG00000240156 OTTHUMG00000158802 NG_012733 PGOHUM00000299462 HGNC:47037 +HGNC:49359 COX6CP7 cytochrome c oxidase subunit 6C pseudogene 7 pseudogene pseudogene Approved 19q13.33 19q13.33 cytochrome c oxidase subunit VIc pseudogene 7 2013-10-18 2016-02-12 2016-07-22 106480265 ENSG00000268681 OTTHUMG00000183168 NG_043986 PGOHUM00000295062 HGNC:49359 +HGNC:49360 COX6CP8 cytochrome c oxidase subunit 6C pseudogene 8 pseudogene pseudogene Approved 8q12.3 08q12.3 cytochrome c oxidase subunit VIc pseudogene 8 2013-10-18 2016-02-12 2016-07-22 106481680 ENSG00000253231 OTTHUMG00000164359 NG_043039 PGOHUM00000303573 HGNC:49360 +HGNC:49361 COX6CP9 cytochrome c oxidase subunit 6C pseudogene 9 pseudogene pseudogene Approved 4q21.1 04q21.1 cytochrome c oxidase subunit VIc pseudogene 9 2013-10-18 2016-02-12 2020-04-06 112340384 NG_066020 PGOHUM00000299891 HGNC:49361 +HGNC:49362 COX6CP10 cytochrome c oxidase subunit 6C pseudogene 10 pseudogene pseudogene Approved 3p22.3 03p22.3 cytochrome c oxidase subunit VIc pseudogene 10 2013-10-18 2016-02-12 2016-07-22 106481681 ENSG00000238008 OTTHUMG00000155866 NG_043049 PGOHUM00000299395 HGNC:49362 +HGNC:49363 COX6CP11 cytochrome c oxidase subunit 6C pseudogene 11 pseudogene pseudogene Approved 14q24.3 14q24.3 cytochrome c oxidase subunit VIc pseudogene 11 2013-10-18 2016-02-12 2016-07-22 106480266 ENSG00000258668 OTTHUMG00000171541 NG_045117 PGOHUM00000292417 HGNC:49363 +HGNC:49364 COX6CP12 cytochrome c oxidase subunit 6C pseudogene 12 pseudogene pseudogene Approved Xq13.1 Xq13.1 cytochrome c oxidase subunit VIc pseudogene 12 2013-10-18 2016-02-12 2016-07-22 106481682 ENSG00000234463 OTTHUMG00000021747 NG_016856 PGOHUM00000304680 HGNC:49364 +HGNC:49365 COX6CP13 cytochrome c oxidase subunit 6C pseudogene 13 pseudogene pseudogene Approved 1p31.3 01p31.3 cytochrome c oxidase subunit VIc pseudogene 13 2013-10-18 2016-02-12 2016-07-22 106480267 ENSG00000234144 OTTHUMG00000009068 NG_033843 PGOHUM00000295708 HGNC:49365 +HGNC:49366 COX6CP14 cytochrome c oxidase subunit 6C pseudogene 14 pseudogene pseudogene Approved 3p21.31 03p21.31 cytochrome c oxidase subunit VIc pseudogene 14 2013-10-18 2016-02-12 2016-07-22 106481683 ENSG00000239576 OTTHUMG00000158196 NG_043065 PGOHUM00000299435 HGNC:49366 +HGNC:49368 COX6CP15 cytochrome c oxidase subunit 6C pseudogene 15 pseudogene pseudogene Approved 10q22.3 10q22.3 cytochrome c oxidase subunit VIc pseudogene 15 2013-10-18 2016-02-12 2016-07-22 106480268 ENSG00000228092 OTTHUMG00000018540 NG_012270 PGOHUM00000289913 HGNC:49368 +HGNC:49367 COX6CP16 cytochrome c oxidase subunit 6C pseudogene 16 pseudogene pseudogene Approved 16q24.1 16q24.1 cytochrome c oxidase subunit VIc pseudogene 16 2013-10-18 2016-02-12 2016-07-22 106481965 ENSG00000270313 OTTHUMG00000184814 NG_043292 PGOHUM00000293671 HGNC:49367 +HGNC:49369 COX6CP17 cytochrome c oxidase subunit 6C pseudogene 17 pseudogene pseudogene Approved 10p14 10p14 cytochrome c oxidase subunit VIc pseudogene 17 2013-10-18 2016-02-12 2016-07-22 106480269 ENSG00000235141 OTTHUMG00000017629 NG_045683 PGOHUM00000289735 HGNC:49369 +HGNC:49370 COX6CP18 cytochrome c oxidase subunit 6C pseudogene 18 pseudogene pseudogene Approved 11p15.5 11p15.5 cytochrome c oxidase subunit VIc pseudogene 18 2013-10-18 2016-02-12 2016-07-22 106481684 ENSG00000236041 OTTHUMG00000009941 NG_008935 PGOHUM00000290777 HGNC:49370 +HGNC:2287 COX7A1 cytochrome c oxidase subunit 7A1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 COX7AH COX7A cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) Mitochondrial complex IV: cytochrome c oxidase subunits 643 1990-06-11 2016-02-11 2016-10-05 1346 ENSG00000161281 OTTHUMG00000048144 uc002odm.1 BC002757 NM_001864 CCDS12490 P24310 "1327965|2550906" MGI:1316714 RGD:6496527 123995 1.9.3.1 HGNC:2287 "ENST00000292907.8|NM_001864.4" +HGNC:2288 COX7A2 cytochrome c oxidase subunit 7A2 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "COXVIIa-L|COX7AL" cytochrome c oxidase subunit VIIa polypeptide 2 (liver) Mitochondrial complex IV: cytochrome c oxidase subunits 643 1992-11-25 2016-02-11 2016-04-25 1347 ENSG00000112695 OTTHUMG00000015049 uc063ppv.1 X15822 NM_001865 CCDS34486 P14406 "1327965|9202412" MGI:1316715 RGD:68365 123996 1.9.3.1 HGNC:2288 "ENST00000684430.2|NM_001366293.2" +HGNC:2289 COX7A2L cytochrome c oxidase subunit 7A2 like protein-coding gene gene with protein product Approved 2p21 02p21 "EB1|COX7RP|COX7AR|SIG81|SCAF1|SCAFI" cytochrome c oxidase subunit VIIa polypeptide 2 like Mitochondrial respiratory chain complex assembly factors 645 2000-03-24 2016-02-11 2021-01-22 9167 ENSG00000115944 OTTHUMG00000128605 uc002rsl.4 AB007618 NM_004718 CCDS1808 O14548 "9418891|23812712|30428348" MGI:106015 RGD:1306111 605771 HGNC:2289 "ENST00000234301.3|NM_004718.4" +HGNC:20006 COX7A2P1 cytochrome c oxidase subunit 7A2 pseudogene 1 pseudogene pseudogene Approved 14q24.1 14q24.1 "COX7A3P|COX7AP1" "cytochrome c oxidase subunit VIIa polypeptide 3 pseudogene|cytochrome c oxidase subunit VIIa pseudogene 1|cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 1" 2003-01-13 2010-01-07 2016-02-11 2017-10-25 319098 ENSG00000258626 OTTHUMG00000171755 NG_002479 PGOHUM00000292387 HGNC:20006 +HGNC:2290 COX7A2P2 cytochrome c oxidase subunit 7A2 pseudogene 2 pseudogene pseudogene Approved 4q22.3 04q22.3 COX7AL2 "COX7A3|COX7AP2" "cytochrome c oxidase subunit VIIa polypeptide 3 (liver)|cytochrome c oxidase subunit VIIa pseudogene 2|cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 2" 1993-01-29 2010-01-07 2016-02-11 2016-02-11 1348 ENSG00000236764 OTTHUMG00000160945 NG_004712 O60397 1327965 MGI:1316715 123997 PGOHUM00000246005 HGNC:2290 +HGNC:2291 COX7B cytochrome c oxidase subunit 7B protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 cytochrome c oxidase subunit VIIb Mitochondrial complex IV: cytochrome c oxidase subunits 643 1993-12-13 2016-02-11 2021-05-26 1349 ENSG00000131174 OTTHUMG00000022718 uc004ecu.2 Z14244 NM_001866 CCDS14437 P24311 8382530 MGI:1913392 RGD:727789 LRG_1250|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1250.xml 300885 325017 HGNC:2291 "ENST00000650309.2|NM_001866.3" HGNC:2291 +HGNC:24381 COX7B2 cytochrome c oxidase subunit 7B2 protein-coding gene gene with protein product Approved 4p12 04p12 cytochrome c oxidase subunit VIIb2 Mitochondrial complex IV: cytochrome c oxidase subunits 643 2005-01-10 2016-02-11 2016-02-11 170712 ENSG00000170516 OTTHUMG00000099423 uc003gxf.4 AF125109 NM_130902 CCDS3472 Q8TF08 15623157 MGI:1925424 RGD:2319120 609811 HGNC:24381 "ENST00000355591.8|NM_130902.3" +HGNC:16529 COX7BP1 cytochrome c oxidase subunit 7B pseudogene 1 pseudogene pseudogene Approved 22q12.3 22q12.3 bK714B7.1 cytochrome c oxidase subunit VIIb pseudogene 1 2001-09-17 2016-02-11 2020-01-21 114657 ENSG00000243453 OTTHUMG00000155624 AF042164 NG_001300 PGOHUM00000246319 HGNC:16529 +HGNC:16601 COX7BP2 cytochrome c oxidase subunit 7B pseudogene 2 pseudogene pseudogene Approved 20q11.23 20q11.23 dJ901O8.2 cytochrome c oxidase subunit VIIb pseudogene 2 2001-09-17 2016-02-11 2016-02-11 140692 ENSG00000234274 OTTHUMG00000032365 NR_000032 PGOHUM00000247524 HGNC:16601 +HGNC:2292 COX7C cytochrome c oxidase subunit 7C protein-coding gene gene with protein product Approved 5q14.3 05q14.3 cytochrome c oxidase subunit VIIc "Mitochondrial complex IV: cytochrome c oxidase subunits|MicroRNA protein coding host genes" "643|1691" 1991-09-05 2016-02-11 2016-10-05 1350 ENSG00000127184 OTTHUMG00000119049 uc003kir.4 BC001005 NM_001867 CCDS4063 P15954 10072584 MGI:103226 RGD:2300145 603774 1.9.3.1 HGNC:2292 "ENST00000247655.4|NM_001867.3" +HGNC:2293 COX7CP1 cytochrome c oxidase subunit 7C pseudogene 1 pseudogene pseudogene Approved 13q14.2 13q14.2 cytochrome c oxidase subunit VIIc pseudogene 1 1998-12-11 2016-02-11 2016-02-11 9386 ENSG00000235957 OTTHUMG00000016912 AF042165 NG_001221 10072584 HGNC:2293 +HGNC:2294 COX8A cytochrome c oxidase subunit 8A protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "COX8-2|COX8L|VIII-L|COX|VIII" COX8 "cytochrome c oxidase subunit VIII|cytochrome c oxidase subunit VIIIA (ubiquitous)" Mitochondrial complex IV: cytochrome c oxidase subunits 643 1989-06-30 2004-03-24 2016-02-11 2021-05-26 1351 ENSG00000176340 OTTHUMG00000167785 uc001nye.3 J04823 NM_004074 CCDS8054 P10176 "2543673|2847943|26685157" MGI:105959 RGD:620638 123870 456175 1.9.3.1 HGNC:2294 "ENST00000314133.4|NM_004074.3" HGNC:2294 +HGNC:31395 COX8BP cytochrome c oxidase subunit 8B, pseudogene pseudogene pseudogene Approved 11p15.5 11p15.5 "COX8-1|COX8H" COX8B cytochrome c oxidase subunit VIIIB, pseudogene 2004-03-26 2011-03-31 2016-02-11 2016-02-11 404544 NG_003253 "12909344|12716970" MGI:105958 HGNC:31395 +HGNC:24382 COX8C cytochrome c oxidase subunit 8C protein-coding gene gene with protein product Approved 14q32.12 14q32.12 COX8-3 cytochrome c oxidase subunit VIII isoform 3 cytochrome c oxidase subunit VIIIC Mitochondrial complex IV: cytochrome c oxidase subunits 643 2004-03-24 2016-02-11 2016-10-05 341947 ENSG00000187581 OTTHUMG00000171279 uc001ybt.2 AY161004 NM_182971 CCDS9910 Q7Z4L0 12909344 MGI:1922733 RGD:727840 616855 HGNC:24382 "ENST00000342144.3|NM_182971.3" +HGNC:2260 COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 protein-coding gene gene with protein product Approved 17p12 17p12 "protoheme IX farnesyltransferase, mitochondrial|heme O synthase" "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)|cytochrome c oxidase assembly homolog 10 (yeast)|COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 1996-10-31 2018-06-21 2021-05-26 1352 ENSG00000006695 OTTHUMG00000058814 uc002gof.5 U09466 NM_001303 CCDS11166 Q12887 "9177788|12928484" MGI:1917633 RGD:1594623 602125 120774 2.5.1.- HGNC:2260 "ENST00000261643.8|NM_001303.4" HGNC:2260 +HGNC:38873 COX10-DT COX10 divergent transcript non-coding RNA RNA, long non-coding Approved 17p12 17p12 "COX10AS|COX10-AS|COX10-AS1" "COX10 antisense RNA (non-protein coding)|COX10 antisense RNA 1 (non-protein coding)|COX10 antisense RNA 1" Divergent transcripts 1990 2010-08-19 2021-06-30 2021-06-30 2021-06-30 100874058 ENSG00000236088 OTTHUMG00000058771 uc060bkg.1 NR_049718 COX10-AS1 HGNC:38873 +HGNC:2261 COX11 cytochrome c oxidase copper chaperone COX11 protein-coding gene gene with protein product Approved 17q22 17q22 COX11P "cytochrome c oxidase subunit 11|cytochrome c oxidase assembly protein COX11" "COX11 (yeast) homolog, cytochrome c oxidase assembly protein|cytochrome c oxidase assembly homolog 11 (yeast)|COX11, cytochrome c oxidase copper chaperone" Mitochondrial respiratory chain complex assembly factors 645 1998-07-03 2018-06-21 2018-06-21 1353 ENSG00000166260 OTTHUMG00000177838 uc010wng.2 AF044321 NM_004375 "CCDS82162|CCDS11583|CCDS58579" Q9Y6N1 "9878253|15840172" MGI:1917052 RGD:9174727 603648 HGNC:2261 "ENST00000299335.8|NM_004375.5" +HGNC:2262 COX11P1 COX11 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 COX11P COX11 homolog, cytochrome c oxidase assembly protein (yeast) pseudogene 1998-07-03 2010-03-02 2019-01-21 2019-01-21 140468 ENSG00000231162 OTTHUMG00000014524 AF044322 NR_000031 9878253 PGOHUM00000301717 HGNC:2262 +HGNC:28216 COX14 cytochrome c oxidase assembly factor COX14 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 MGC14288 C12orf62 "chromosome 12 open reading frame 62|COX14 cytochrome c oxidase assembly homolog (S. cerevisiae)|COX14, cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 2006-02-24 2012-02-23 2018-06-21 2021-05-26 84987 ENSG00000178449 OTTHUMG00000185635 uc001rwb.3 NM_032901 CCDS8800 Q96I36 "22243966|22356826" MGI:1913629 RGD:1598052 614478 291843 HGNC:28216 "ENST00000550487.6|NM_032901.4" HGNC:28216 +HGNC:2263 COX15 cytochrome c oxidase assembly homolog COX15 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 CEMCOX2 "COX15 (yeast) homolog, cytochrome c oxidase assembly protein|COX15, cytochrome c oxidase assembly homolog" Mitochondrial respiratory chain complex assembly factors 645 1998-07-03 2018-06-21 2021-05-26 1355 ENSG00000014919 OTTHUMG00000018893 uc001kqb.5 AF044323 NM_078470 "CCDS7482|CCDS7481" Q7KZN9 9878253 MGI:1920112 RGD:1312043 LRG_406|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_406.xml 603646 120776 HGNC:2263 "ENST00000016171.6|NM_078470.6" HGNC:2263 +HGNC:20213 COX16 cytochrome c oxidase assembly factor COX16 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 HSPC203 C14orf112 "chromosome 14 open reading frame 112|COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)|COX16, cytochrome c oxidase assembly homolog" Mitochondrial respiratory chain complex assembly factors 645 2003-01-15 2008-06-23 2018-06-21 2018-06-21 51241 ENSG00000133983 OTTHUMG00000171238 uc001xmb.3 AF151037 NM_016468 CCDS9802 Q9P0S2 "11042152|15596615|29355485" MGI:1913522 RGD:2311610 618064 HGNC:20213 "ENST00000389912.7|NM_016468.7" +HGNC:2264 COX17 cytochrome c oxidase copper chaperone COX17 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "COX17 (yeast) homolog, cytochrome c oxidase assembly protein|COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)|COX17, cytochrome c oxidase copper chaperone" Mitochondrial respiratory chain complex assembly factors 645 1999-12-14 2018-06-21 2018-06-21 10063 ENSG00000138495 OTTHUMG00000159433 uc003ecz.2 L77701 NM_005694 CCDS2993 Q14061 "9050918|21816817" MGI:1333806 RGD:620548 604813 HGNC:2264 "ENST00000261070.7|NM_005694.2" +HGNC:24341 COX17P1 COX17 pseudogene 1 pseudogene pseudogene Approved 13q14.13 13q14.13 COX17P "COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) pseudogene|cytochrome c oxidase assembly homolog 17 (yeast) pseudogene 1" 2007-07-31 2010-03-02 2019-01-21 2019-01-21 81993 ENSG00000205105 OTTHUMG00000016872 NG_001293 10982038 HGNC:24341 +HGNC:26801 COX18 cytochrome c oxidase assembly factor COX18 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 FLJ38991 "COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)|cytochrome c oxidase assembly homolog 18 (yeast)|COX18, cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 2006-05-15 2018-06-21 2018-06-21 285521 ENSG00000163626 OTTHUMG00000129917 uc003hgm.2 AY957564 NM_173827 "CCDS75139|CCDS3554" Q8N8Q8 "16212937|16911509|28330871" MGI:2448532 RGD:1559547 610428 HGNC:26801 "ENST00000507544.3|NM_001297732.2" +HGNC:28074 COX19 cytochrome c oxidase assembly factor COX19 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 MGC104475 "COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)|cytochrome c oxidase assembly homolog 19 (S. cerevisiae)|COX19, cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 2006-05-15 2018-06-21 2018-06-21 90639 ENSG00000240230 OTTHUMG00000151476 uc003sjp.2 AY957566 NM_001031617 CCDS34582 Q49B96 "15596615|16212937|23345593" MGI:1915283 RGD:1305631 610429 HGNC:28074 "ENST00000344111.4|NM_001031617.3" +HGNC:26970 COX20 cytochrome c oxidase assembly factor COX20 protein-coding gene gene with protein product Approved 1q44 01q44 FLJ43269 FAM36A "family with sequence similarity 36, member A|COX20 Cox2 chaperone homolog (S. cerevisiae)|COX20, cytochrome c oxidase assembly factor" Mitochondrial respiratory chain complex assembly factors 645 2004-04-16 2012-02-24 2018-06-21 2021-05-26 116228 ENSG00000203667 OTTHUMG00000040401 uc001iar.5 BC062419 NM_198076 "CCDS81434|CCDS31080" Q5RI15 "22356826|23125284" MGI:1913609 RGD:1309105 614698 326052 HGNC:26970 "ENST00000411948.7|NM_198076.6" HGNC:26970 +HGNC:31435 COX20P1 COX20 pseudogene 1 pseudogene pseudogene Approved 10q21.3 10q21.3 bA119F7.2 FAM36B "family with sequence similarity 36, member B (pseudogene)|COX20 cytochrome C oxidase assembly factor pseudogene 1" 2004-05-27 2012-02-24 2019-01-21 2020-04-20 100507102 ENSG00000213025 OTTHUMG00000018360 NG_029198 HGNC:31435 +HGNC:43772 COX20P2 COX20 pseudogene 2 pseudogene pseudogene Approved 2q37.1 02q37.1 COX20 cytochrome C oxidase assembly factor pseudogene 2 2012-02-24 2019-01-21 2019-01-21 100289170 ENSG00000235013 OTTHUMG00000153827 NG_050956 PGOHUM00000241133 HGNC:43772 +HGNC:2295 CP ceruloplasmin protein-coding gene gene with protein product Approved 3q24-q25.1 03q24-q25.1 AB073614 ferroxidase ceruloplasmin (ferroxidase) 1986-01-01 2016-06-02 2021-11-25 1356 ENSG00000047457 OTTHUMG00000159563 uc003ewy.6 M13536 NM_000096 CCDS3141 P00450 MGI:88476 RGD:2387 117700 120778 1.16.3.1 HGNC:2295 "ENST00000264613.11|NM_000096.4" HGNC:2295 +HGNC:2296 CPA1 carboxypeptidase A1 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 pancreatic carboxypeptidase A CPA carboxypeptidase A1 (pancreatic) M14 carboxypeptidases 1321 1986-01-01 2015-11-26 2016-10-05 1357 ENSG00000091704 OTTHUMG00000157826 uc003vpx.4 NM_001868 CCDS5820 P15085 MGI:88478 RGD:2388 114850 405057 M14.001 objectId:1587 3.4.17.1 HGNC:2296 "ENST00000011292.8|NM_001868.4" HGNC:2296 +HGNC:2297 CPA2 carboxypeptidase A2 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 carboxypeptidase A2 (pancreatic) M14 carboxypeptidases 1321 1990-06-13 2015-11-26 2016-10-05 1358 ENSG00000158516 OTTHUMG00000157019 uc003vpq.4 U19977 NM_001869 CCDS5817 P48052 "7896805|10860668" MGI:3617840 RGD:1305563 600688 M14.002 objectId:1588 3.4.17.15 HGNC:2297 "ENST00000222481.9|NM_001869.3" +HGNC:2298 CPA3 carboxypeptidase A3 protein-coding gene gene with protein product Approved 3q24 03q24 "mast cell carboxypeptidase A|tissue carboxypeptidase A" carboxypeptidase A3 (mast cell) M14 carboxypeptidases 1321 1990-06-13 2015-12-16 2015-12-16 1359 ENSG00000163751 OTTHUMG00000159526 uc003ewm.4 NM_001870 CCDS3138 P15088 MGI:88479 RGD:2390 114851 M14.010 objectId:1589 3.4.17.1 HGNC:2298 "ENST00000296046.4|NM_001870.4" +HGNC:15740 CPA4 carboxypeptidase A4 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 CPA3 carboxypeptidase A3 M14 carboxypeptidases 1321 2001-05-24 2021-05-26 51200 ENSG00000128510 OTTHUMG00000157825 uc003vpr.4 AF095719 NM_016352 "CCDS5818|CCDS55163" Q9UI42 "10383164|10860668" MGI:1919041 RGD:1563619 LRG_1038|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1038.xml 607635 M14.017 objectId:1590 HGNC:15740 "ENST00000222482.10|NM_016352.4" +HGNC:15722 CPA5 carboxypeptidase A5 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 M14 carboxypeptidases 1321 2001-05-25 2016-10-05 93979 ENSG00000158525 OTTHUMG00000157824 uc064hzi.1 AF384667 NM_001127441 "CCDS5819|CCDS47713" Q8WXQ8 11836249 MGI:1921899 RGD:1303098 609561 M14.020 objectId:1591 HGNC:15722 "ENST00000474905.6|NM_080385.5" +HGNC:17245 CPA6 carboxypeptidase A6 protein-coding gene gene with protein product Approved 8q13.2 08q13.2 CPAH M14 carboxypeptidases 1321 2002-05-29 2021-05-26 57094 ENSG00000165078 OTTHUMG00000164575 uc003xxq.5 AF221594 NM_020361 CCDS6200 Q8N4T0 11836249 MGI:3045348 RGD:1311764 609562 120780 M14.018 objectId:1592 HGNC:17245 "ENST00000297770.10|NM_020361.5" HGNC:17245 +HGNC:23228 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KIAA1283|VIP|K-CAP" C3 and PZP like, alpha-2-macroglobulin domain containing 1234 2004-04-30 2019-01-21 2019-01-21 27151 ENSG00000160111 OTTHUMG00000133549 uc002nfb.4 AY101765 NM_015692 CCDS42519 Q8IZJ3 10574462 RGD:1302962 608841 HGNC:23228 "ENST00000443236.7|NM_015692.5" HGNC:23228 +HGNC:2299 CPB1 carboxypeptidase B1 protein-coding gene gene with protein product Approved 3q24 03q24 "pancreatic carboxypeptidase B|tissue carboxypeptidase B|protaminase" carboxypeptidase B1 (tissue) M14 carboxypeptidases 1321 1992-04-13 2015-12-16 2015-12-16 1360 ENSG00000153002 OTTHUMG00000159520 uc003ewl.4 AJ224866 NM_001871 CCDS33874 P15086 MGI:1923953 RGD:2391 114852 M14.003 objectId:1593 3.4.17.2 HGNC:2299 "ENST00000282957.9|NM_001871.3" +HGNC:2300 CPB2 carboxypeptidase B2 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "CPU|PCPB|TAFI" "thrombin-activatable fibrinolysis inhibitor|carboxypeptidase U|plasma carboxypeptidase B|carboxypeptidase R" "carboxypeptidase B2 (plasma, carboxypeptidase U)|carboxypeptidase B2 (plasma)" M14 carboxypeptidases 1321 1992-04-10 2015-12-16 2021-04-13 1361 ENSG00000080618 OTTHUMG00000016867 uc001vaw.4 M75106 NM_001872 "CCDS9401|CCDS73568" Q96IY4 "1939207|1427879" MGI:1891837 RGD:71035 LRG_632|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_632.xml 603101 M14.009 objectId:1594 HGNC:2300 "ENST00000181383.10|NM_001872.5" +HGNC:39898 CPB2-AS1 CPB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.13 13q14.13 CPB2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2020-04-20 100509894 ENSG00000235903 OTTHUMG00000016865 uc058wwc.1 NR_046226 CPB2-AS1 HGNC:39898 +HGNC:2301 CPD carboxypeptidase D protein-coding gene gene with protein product Approved 17q11.2 17q11.2 GP180 metallocarboxypeptidase D M14 carboxypeptidases 1321 1998-04-08 2015-09-11 1362 ENSG00000108582 OTTHUMG00000132797 uc002hfb.3 U65090 NM_001304 "CCDS56025|CCDS11257" O75976 "9628828|9355738" MGI:107265 RGD:2393 603102 XM14-001 objectId:1582 3.4.17.22 HGNC:2301 "ENST00000225719.9|NM_001304.5" +HGNC:53102 CPDP1 carboxypeptidase D pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 2017-02-09 2017-02-09 109729163 ENSG00000264240 OTTHUMG00000179200 NG_052918 28128738 HGNC:53102 +HGNC:2303 CPE carboxypeptidase E protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "carboxypeptidase H|enkephalin convertase|insulin granule-associated carboxypeptidase|cobalt-stimulated chromaffin granule carboxypeptidase" "M14 carboxypeptidases|MicroRNA protein coding host genes" "1321|1691" 1992-04-09 2015-09-11 1363 ENSG00000109472 OTTHUMG00000150252 uc003irg.5 X51405 NM_001873 CCDS3810 P16870 2334405 MGI:101932 RGD:2394 114855 M14.005 objectId:1595 3.4.17.10 HGNC:2303 "ENST00000402744.9|NM_001873.4" +HGNC:21744 CPEB1 cytoplasmic polyadenylation element binding protein 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ13203|CPEB" 2003-07-22 2016-10-05 64506 ENSG00000214575 OTTHUMG00000172877 uc002biv.5 AF329402 NM_030594 "CCDS45329|CCDS42072|CCDS45330" Q9BZB8 11223249 MGI:108442 RGD:1310421 607342 HGNC:21744 "ENST00000684509.1|NM_001365242.1" +HGNC:27523 CPEB1-AS1 CPEB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.2 15q25.2 Antisense RNAs 1987 2014-11-21 2014-11-21 283692 ENSG00000259462 OTTHUMG00000172386 BC035360 NR_046096 CPEB1-AS1 HGNC:27523 +HGNC:21745 CPEB2 cytoplasmic polyadenylation element binding protein 2 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 RNA binding motif containing 725 2003-07-22 2018-11-15 132864 ENSG00000137449 OTTHUMG00000090669 uc003gnk.2 AY247744 NM_001177382 "CCDS56325|CCDS56326" Q7Z5Q1 12672660 MGI:2442640 RGD:1307485 610605 HGNC:21745 "ENST00000538197.7|NM_001177382.2" +HGNC:49082 CPEB2-DT CPEB2 divergent transcript non-coding RNA RNA, long non-coding Approved 4p15.33-p15.32 04p15.33-p15.32 DRAIR Diabetes Regulated anti-inflammatory RNA CPEB2-AS1 CPEB2 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-08-23 2018-03-22 2018-03-22 2021-05-10 441009 ENSG00000247624 OTTHUMG00000160381 NR_038857 33945509 CPEB2-AS1 HGNC:49082 +HGNC:21746 CPEB3 cytoplasmic polyadenylation element binding protein 3 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 KIAA0940 RNA binding motif containing 725 2003-07-22 2016-10-05 22849 ENSG00000107864 OTTHUMG00000018756 uc001khw.3 AB023157 NM_014912 "CCDS31246|CCDS53553" Q8NE35 "10231032|12672660" MGI:2443075 RGD:1564670 610606 HGNC:21746 "ENST00000265997.5|NM_014912.5" HGNC:21746 +HGNC:21747 CPEB4 cytoplasmic polyadenylation element binding protein 4 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 KIAA1673 RNA binding motif containing 725 2003-07-22 2016-10-05 80315 ENSG00000113742 OTTHUMG00000130541 uc003mcs.5 BX538213 NM_030627 "CCDS4390|CCDS78086|CCDS83043|CCDS78087|CCDS83044" Q17RY0 "11214970|12672660" MGI:1914829 RGD:1311931 610607 HGNC:21747 "ENST00000265085.10|NM_030627.4" +HGNC:26159 CPED1 cadherin like and PC-esterase domain containing 1 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 FLJ21986 C7orf58 "chromosome 7 open reading frame 58|cadherin-like and PC-esterase domain containing 1" 2007-12-06 2012-06-12 2016-02-03 2016-02-03 79974 ENSG00000106034 OTTHUMG00000156982 uc003vjq.5 NM_024913 "CCDS34739|CCDS47690" A4D0V7 20056006 MGI:2444814 RGD:1563491 HGNC:26159 "ENST00000310396.10|NM_024913.5" +HGNC:31714 CPHL1P ceruloplasmin and hephaestin like 1, pseudogene pseudogene pseudogene Approved 3q25.1 03q25.1 CPHL1 ceruloplasmin and hephaestin-like 1 2004-11-19 2010-10-13 2019-02-20 2019-02-20 389160 ENSG00000240216 OTTHUMG00000159584 NG_022938 PGOHUM00000237811 HGNC:31714 +HGNC:51815 CPHXL cytoplasmic polyadenylated homeobox like protein-coding gene gene with protein product Approved 16q23.1 16q23.1 2015-06-11 2019-03-06 105371346 ENSG00000283755 OTTHUMG00000191920 NM_001355613 CCDS86543 A0A1W2PPM1 21110847 MGI:2145733 RGD:1565219 618700 HGNC:51815 "ENST00000640559.2|NM_001355613.1" +HGNC:55919 CPHXL2 cytoplasmic polyadenylated homeobox like 2 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 2021-10-14 2021-10-14 112268164 ENSG00000284484 NM_001395862 A0A1W2PPK0 +HGNC:25801 CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "FLJ13231|JBTS17|Hug" C5orf42 "chromosome 5 open reading frame 42|ciliogenesis and planar polarity effector 1" Ciliogenesis and planar polarity effector complex subunits 1610 2007-12-13 2018-03-15 2021-12-03 2022-01-19 65250 ENSG00000197603 OTTHUMG00000160492 uc011cpa.1 NM_023073 CCDS34146 Q9H799 "22264561|25877302|29605658" MGI:1920942 RGD:1310081 614571 299619 HGNC:25801 "ENST00000651892.2|NM_001384732.1" HGNC:25801 +HGNC:56117 CPLANE1-AS1 CPLANE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 Antisense RNAs 1987 2022-01-07 2022-01-07 105374727 ENSG00000286193 NR_134263 +HGNC:28127 CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 MGC10731 Rem/Rab-Similar GTPase 1 "C1orf89|RSG1" "chromosome 1 open reading frame 89|REM2 and RAB like small GTPase 1|ciliogenesis and planar polarity effector 2" Ciliogenesis and planar polarity effector complex subunits 1610 2005-05-27 2018-03-15 2021-12-03 2021-12-03 79363 ENSG00000132881 OTTHUMG00000002214 uc001ayd.4 BC008702 NM_030907 CCDS171 Q9BU20 19767740 MGI:1923416 RGD:1561421 HGNC:28127 "ENST00000375599.8|NM_030907.4" +HGNC:2309 CPLX1 complexin 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 CPX-I 1999-09-09 2021-05-26 10815 ENSG00000168993 OTTHUMG00000160005 uc003gbi.4 AF022383 NM_006651 CCDS46995 O14810 7553862 MGI:104727 RGD:70944 605032 HGNC:2309 "ENST00000304062.11|NM_006651.4" HGNC:2309 +HGNC:2310 CPLX2 complexin 2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "CPX-2|DKFZp547D155" 1999-09-09 2015-08-28 10814 ENSG00000145920 OTTHUMG00000130665 uc003mde.2 U35100 NM_001008220 CCDS4396 Q6PUV4 "7553862|16162394" MGI:104726 RGD:70945 605033 HGNC:2310 "ENST00000393745.8|NM_001008220.2" +HGNC:27652 CPLX3 complexin 3 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 CPX-III 2005-08-02 2015-08-24 594855 ENSG00000213578 OTTHUMG00000142816 uc059llo.1 BC018026 NM_001030005 CCDS32294 Q8WVH0 15911881 MGI:2384571 RGD:1560104 609585 HGNC:27652 "ENST00000395018.6|NM_001030005.3" +HGNC:24330 CPLX4 complexin 4 protein-coding gene gene with protein product Approved 18q21.32 18q21.32 CPX-IV 2004-01-22 2015-08-24 339302 ENSG00000166569 OTTHUMG00000132756 uc002lhy.4 AY286502 NM_181654 CCDS11973 Q7Z7G2 15911881 MGI:2685803 RGD:1307643 609586 HGNC:24330 "ENST00000299721.3|NM_181654.4" +HGNC:2311 CPM carboxypeptidase M protein-coding gene gene with protein product Approved 12q15 12q15 "renal carboxypeptidase|urinary carboxypeptidase B" M14 carboxypeptidases 1321 1995-09-11 2015-09-11 1368 ENSG00000135678 OTTHUMG00000169300 uc001sur.4 AF368463 NM_198320 CCDS8987 P14384 8586455 MGI:1917824 RGD:1310532 114860 M14.006 objectId:1596 3.4.17.12 HGNC:2311 "ENST00000551568.6|NM_198320.5" +HGNC:2312 CPN1 carboxypeptidase N subunit 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "anaphylatoxin inactivator|arginine carboxypeptidase|carboxypeptidase K|kininase I|lysine carboxypeptidase" "carboxypeptidase N, polypeptide 1, 50kD|carboxypeptidase N, polypeptide 1" M14 carboxypeptidases 1321 1998-04-08 2015-12-16 2015-12-16 1369 ENSG00000120054 OTTHUMG00000018896 uc001kql.3 X14329 NM_001308 CCDS7486 P15169 "9628828|2912725" MGI:2135874 RGD:70931 603103 M14.004 objectId:1597 3.4.17.3 HGNC:2312 "ENST00000370418.8|NM_001308.3" HGNC:2312 +HGNC:2313 CPN2 carboxypeptidase N subunit 2 protein-coding gene gene with protein product Approved 3q29 03q29 ACBP "carboxypeptidase N, polypeptide 2, 83kD|carboxypeptidase N, polypeptide 2" M14 carboxypeptidases 1321 1991-08-07 2015-12-16 2015-12-16 1370 ENSG00000178772 OTTHUMG00000156047 uc003fts.3 J05158 NM_001080513 CCDS33920 P22792 "2378615|9628828" MGI:1919006 RGD:1305170 603104 objectId:1598 3.4.17.3 HGNC:2313 "ENST00000323830.4|NM_001080513.4" +HGNC:2314 CPNE1 copine 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 CPN1 copine I Copines 829 1999-02-09 2016-01-26 2016-01-26 8904 ENSG00000214078 OTTHUMG00000032356 uc002xdf.4 U83246 NM_152930 "CCDS13260|CCDS46595" Q99829 9430674 MGI:2386621 RGD:1311148 604205 HGNC:2314 "ENST00000397443.7|NM_152925.3" +HGNC:2315 CPNE2 copine 2 protein-coding gene gene with protein product Approved 16q13 16q13 CPN2 copine II Copines 829 1999-02-09 2016-01-26 2016-01-26 221184 ENSG00000140848 OTTHUMG00000133471 uc002eks.3 NM_152727 CCDS10774 Q96FN4 9430674 MGI:2387578 RGD:1586036 604206 HGNC:2315 "ENST00000290776.13|NM_152727.6" +HGNC:55398 CPNE2-DT CPNE2 divergent transcript non-coding RNA RNA, long non-coding Approved 16q13 16q13 Divergent transcripts 1990 2020-12-21 2020-12-21 119863867 ENSG00000260148 +HGNC:2316 CPNE3 copine 3 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 copine III Copines 829 1999-02-09 2016-01-26 2016-10-05 8895 ENSG00000085719 OTTHUMG00000163725 uc064ofn.1 AB014536 NM_003909 CCDS6243 O75131 9430674 MGI:1917818 RGD:1310178 604207 HGNC:2316 "ENST00000517490.6|NM_003909.5" +HGNC:2317 CPNE4 copine 4 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "COPN4|CPN4" copine 8 copine IV "Copines|MicroRNA protein coding host genes" "829|1691" 1999-02-09 2016-01-26 2016-01-26 131034 ENSG00000196353 OTTHUMG00000159631 uc003eom.5 H29499 NM_130808 "CCDS75010|CCDS3072" Q96A23 "9430674|12670487" MGI:1921270 RGD:1308844 604208 HGNC:2317 "ENST00000429747.6|NM_130808.3" +HGNC:2318 CPNE5 copine 5 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "CPN5|COPN5|KIAA1599" copine V Copines 829 1999-02-09 2016-01-26 2016-01-26 57699 ENSG00000124772 OTTHUMG00000014602 uc003omr.2 H09181 NM_020939 "CCDS83078|CCDS4825" Q9HCH3 9430674 MGI:2385908 RGD:1308021 604209 HGNC:2318 "ENST00000244751.7|NM_020939.2" +HGNC:2319 CPNE6 copine 6 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 copine VI (neuronal) Copines 829 1999-03-24 2016-01-26 2016-01-26 9362 ENSG00000100884 OTTHUMG00000028781 uc058zuk.1 AB009288 NM_001280558 "CCDS61413|CCDS9607" O95741 9645480 MGI:1334445 RGD:1583895 605688 HGNC:2319 HGNC:2319 +HGNC:2320 CPNE7 copine 7 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 copine VII Copines 829 1999-12-07 2016-01-26 2016-01-26 27132 ENSG00000178773 OTTHUMG00000138051 uc002fnq.4 AJ133798 NM_014427 "CCDS10981|CCDS10980" Q9UBL6 MGI:2142747 RGD:1307466 605689 HGNC:2320 "ENST00000319518.13|NM_153636.3" +HGNC:23498 CPNE8 copine 8 protein-coding gene gene with protein product Approved 12q12 12q12 copine VIII Copines 829 2003-11-20 2016-01-26 2016-11-09 144402 ENSG00000139117 OTTHUMG00000169396 uc001rls.2 AY177785 NM_153634 CCDS8733 Q86YQ8 12670487 MGI:1914121 RGD:1307939 HGNC:23498 "ENST00000331366.10|NM_153634.3" +HGNC:53937 CPNE8-AS1 CPNE8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q12 12q12 RP11-396F22.1 Antisense RNAs 1987 2018-06-15 2018-07-05 107984504 ENSG00000257718 OTTHUMG00000169406 XR_001749083 "29636859|29552195" HGNC:53937 +HGNC:24336 CPNE9 copine family member 9 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 KIAA4217 copine family member IX Copines 829 2006-01-06 2016-01-26 2016-01-26 151835 ENSG00000144550 OTTHUMG00000128418 uc062gli.1 NM_001033755 "CCDS77695|CCDS2574" Q8IYJ1 9430674 MGI:2443052 RGD:1309212 HGNC:24336 "ENST00000383832.8|NM_153635.3" +HGNC:21011 CPO carboxypeptidase O protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "metallocarboxypeptidase O|metallocarboxypeptidase C" M14 carboxypeptidases 1321 2004-01-29 2016-10-05 130749 ENSG00000144410 OTTHUMG00000088987 uc002vby.2 NM_173077 CCDS2372 Q8IVL8 11836249 RGD:1588771 609563 M14.021 objectId:1599 HGNC:21011 "ENST00000272852.4|NM_173077.3" +HGNC:2321 CPOX coproporphyrinogen oxidase protein-coding gene gene with protein product Approved 3q11.2 03q11.2 "CPX|HCP" "coproporphyria|homozygous coproporphyria" CPO coproporphyrinogen oxidase (coproporphyria, harderoporphyria) 2001-06-22 2004-01-30 2021-05-26 1371 ENSG00000080819 OTTHUMG00000160016 uc003dsx.4 BC017210 NM_000097 CCDS2932 P36551 "7757079|8407975" MGI:104841 RGD:1311817 LRG_1077|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1077.xml 612732 120783 1.3.3.3 HGNC:2321 "ENST00000647941.2|NM_000097.7" HGNC:2321 +HGNC:2322 CPP ceruloplasmin pseudogene pseudogene pseudogene Approved 8q21.3 08q21.3 ceruloplasmin (ferroxidase) pseudogene 2001-06-22 2016-06-27 2020-04-07 340451 ENSG00000253525 OTTHUMG00000164061 M18058 NG_001106 3427102 PGOHUM00000303622 HGNC:2322 +HGNC:25632 CPPED1 calcineurin like phosphoesterase domain containing 1 protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "CSTP1|FLJ11151" complete S transactivated protein 1 calcineurin-like phosphoesterase domain containing 1 2009-03-13 2016-03-17 2017-11-28 55313 ENSG00000103381 OTTHUMG00000167711 uc002dca.5 AK022710 NM_018340 "CCDS42120|CCDS42119" Q9BRF8 "18771593|23939394" MGI:2443300 RGD:1306568 615603 HGNC:25632 "ENST00000381774.9|NM_018340.3" +HGNC:16910 CPQ carboxypeptidase Q protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "LDP|PGCP" "lysosomal dipeptidase|Ser-Met dipeptidase|plasma glutamate carboxypeptidase" M14 carboxypeptidases 1321 2012-02-17 2016-10-05 10404 ENSG00000104324 OTTHUMG00000164690 uc003yhw.5 AF107834 NM_016134 CCDS6273 Q9Y646 10206990 MGI:1889205 RGD:628610 618754 objectId:1610 HGNC:16910 "ENST00000220763.10|NM_016134.4" +HGNC:2323 CPS1 carbamoyl-phosphate synthase 1 protein-coding gene gene with protein product Approved 2q34 02q34 GATD6 carbamoyl-phosphate synthase (ammonia) "carbamoyl-phosphate synthetase 1, mitochondrial|carbamoyl-phosphate synthase 1, mitochondrial" Glutamine amidotransferase class 1 domain containing 1408 2001-06-22 2015-11-12 2021-05-26 1373 ENSG00000021826 OTTHUMG00000132994 uc002vee.5 AF154830 NM_001122633 CCDS2393 P31327 MGI:891996 RGD:2395 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CPS1|LRG_336|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_336.xml" 608307 120788 6.3.4.16 HGNC:2323 "ENST00000233072.10|NM_001875.5" HGNC:2323 +HGNC:30102 CPS1-IT1 CPS1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q34 02q34 "PRO0132|CPS1-IT" CPS1IT CPS1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2010-07-08 2011-03-23 2015-02-25 2018-07-20 29034 ENSG00000280837 OTTHUMG00000189581 uc002vef.4 NR_002763 "27662619|29145177" CPS1-IT1 HGNC:30102 +HGNC:2324 CPSF1 cleavage and polyadenylation specific factor 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 CPSF160 "cleavage and polyadenylation specific factor 1, 160kD subunit|cleavage and polyadenylation specific factor 1, 160kDa|CPSF 160 kDa subunit" "Cleavage and polyadenylation specific factor subunits|MicroRNA protein coding host genes" "1450|1691" 2000-05-31 2015-11-09 2021-09-21 29894 ENSG00000071894 OTTHUMG00000174612 uc003zcj.3 U37012 NM_013291 CCDS34966 Q10570 "7651824|7590244" MGI:2679722 RGD:1306406 606027 470130 HGNC:2324 "ENST00000616140.2|NM_013291.3" HGNC:2324 +HGNC:19251 CPSF1P1 CPSF1 pseudogene 1 pseudogene pseudogene Approved 22q12.3 22q12.3 dJ90G24.5 "cleavage and polyadenylation specific factor 1, 160kDa pseudogene 1|cleavage and polyadenylation specific factor 1 pseudogene 1" 2002-09-18 2020-05-07 2020-05-07 129099 ENSG00000214076 OTTHUMG00000030378 NG_005204 PGOHUM00000246572 HGNC:19251 +HGNC:54959 CPSF1P2 CPSF1 pseudogene 2 pseudogene pseudogene Approved Xp11.23 Xp11.23 2020-05-07 2020-05-07 100422285 ENSG00000220132 NG_026701 +HGNC:2325 CPSF2 cleavage and polyadenylation specific factor 2 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "KIAA1367|CPSF100" "cleavage and polyadenylation specific factor 2, 100kD subunit|cleavage and polyadenylation specific factor 2, 100kDa" "Cleavage and polyadenylation specific factor subunits|MBL fold containing DNA/RNA interacting subfamily" "1450|1615" 2000-05-31 2015-11-09 2017-05-08 53981 ENSG00000165934 OTTHUMG00000171181 uc001yah.3 AB037788 NM_001322270 CCDS9902 Q9P2I0 "7969155|11124543" MGI:1861601 RGD:1309687 606028 HGNC:2325 "ENST00000298875.9|NM_017437.3" +HGNC:2326 CPSF3 cleavage and polyadenylation specific factor 3 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "CPSF-73|CPSF73|YSH1" "cleavage and polyadenylation specific factor 3, 73kD subunit|cleavage and polyadenylation specific factor 3, 73kDa" "Cleavage and polyadenylation specific factor subunits|MBL fold containing DNA/RNA interacting subfamily|Endoribonucleases" "1450|1615|1687" 2000-05-31 2015-11-09 2015-11-09 51692 ENSG00000119203 OTTHUMG00000090415 uc002qzo.3 AF171877 NM_016207 "CCDS1664|CCDS82417" Q9UKF6 8929409 MGI:1859328 RGD:1305767 606029 HGNC:2326 "ENST00000238112.8|NM_016207.4" +HGNC:2327 CPSF4 cleavage and polyadenylation specific factor 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "NAR|CPSF30" "cleavage and polyadenylation specific factor 4, 30kD subunit|cleavage and polyadenylation specific factor 4, 30kDa" Cleavage and polyadenylation specific factor subunits 1450 2000-05-31 2015-11-09 2016-10-05 10898 ENSG00000160917 OTTHUMG00000154599 uc003uqj.4 NM_001081559 "CCDS47652|CCDS83205|CCDS5664" O95639 "9651582|9224719" MGI:1861602 RGD:620440 603052 HGNC:2327 "ENST00000292476.10|NM_006693.4" +HGNC:33632 CPSF4L cleavage and polyadenylation specific factor 4 like protein-coding gene gene with protein product Approved 17q25.1 17q25.1 2007-10-18 2016-06-21 2016-06-21 642843 ENSG00000187959 OTTHUMG00000132640 uc010dfk.1 NM_001129885 CCDS45768 A6NMK7 MGI:1277182 RGD:1306397 HGNC:33632 "ENST00000344935.8|NM_001129885.1" +HGNC:13871 CPSF6 cleavage and polyadenylation specific factor 6 protein-coding gene gene with protein product Approved 12q15 12q15 "CFIM|HPBRII-4|HPBRII-7|CFIM68|CFIM72" cleavage factor Im complex 68 kDa subunit "cleavage and polyadenylation specific factor 6, 68kD subunit|cleavage and polyadenylation specific factor 6, 68kDa" "RNA binding motif containing|Cleavage factor Im complex subunits" "725|2101" 2001-02-06 2015-11-09 2020-01-06 11052 ENSG00000111605 OTTHUMG00000169340 uc001sut.4 X67336 NM_007007 "CCDS8988|CCDS73494" Q16630 "9659921|17267687" MGI:1913948 RGD:1304640 604979 HGNC:13871 "ENST00000435070.7|NM_007007.3" +HGNC:30098 CPSF7 cleavage and polyadenylation specific factor 7 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "FLJ12529|CFIM59" "pre mRNA cleavage factor I, 59 kDa subunit|cleavage factor Im complex 59 kDa subunit" cleavage and polyadenylation specific factor 7, 59kDa "RNA binding motif containing|Cleavage factor Im complex subunits" "725|2101" 2009-04-21 2015-11-09 2017-05-08 79869 ENSG00000149532 OTTHUMG00000168198 uc001nrq.4 NM_024811 "CCDS44620|CCDS8006|CCDS44619" Q8N684 12477932 MGI:1917826 RGD:1305441 HGNC:30098 "ENST00000439958.8|NM_001142565.3" +HGNC:2328 CPT1A carnitine palmitoyltransferase 1A protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "CPT1-L|L-CPT1" CPT1 carnitine palmitoyltransferase 1A (liver) 1995-05-30 2016-02-24 2021-05-26 1374 ENSG00000110090 OTTHUMG00000167892 uc001oog.5 L39211 NM_001876 "CCDS8185|CCDS31624" P50416 "7892212|9070950" MGI:1098296 RGD:2396 600528 120790 2.3.1.21 HGNC:2328 "ENST00000265641.10|NM_001876.4" HGNC:2328 +HGNC:2329 CPT1B carnitine palmitoyltransferase 1B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "M-CPT1|CPT1-M" carnitine O-palmitoyltransferase 1B carnitine palmitoyltransferase 1B (muscle) 1996-08-14 2015-12-04 2021-05-26 1375 ENSG00000205560 OTTHUMG00000137390 uc003bml.4 U62733 NM_152246 "CCDS46734|CCDS14098" Q92523 9070950 MGI:1098297 RGD:2397 601987 2.3.1.21 HGNC:2329 "ENST00000312108.12|NM_152246.3" HGNC:2329 +HGNC:18540 CPT1C carnitine palmitoyltransferase 1C protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ23809|CPTIC|CPT1P|CATL1" 2003-11-27 2021-05-26 126129 ENSG00000169169 OTTHUMG00000183267 uc002ppj.4 AF357970 NM_152359 "CCDS12779|CCDS46147" Q8TCG5 "12376098|11001805" MGI:2446526 RGD:1305384 608846 448705 HGNC:18540 "ENST00000598293.6|NM_001199753.2" HGNC:18540 +HGNC:2330 CPT2 carnitine palmitoyltransferase 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 CPTASE CPT1 carnitine palmitoyltransferase II 1991-05-09 2009-03-04 2021-05-26 1376 ENSG00000157184 OTTHUMG00000008942 uc001cvb.4 BC002445 NM_000098 "CCDS81326|CCDS575" P23786 1339389 MGI:109176 RGD:2398 600650 120795 2.3.1.21 HGNC:2330 "ENST00000371486.4|NM_000098.3" HGNC:2330 +HGNC:49538 CPT2P1 carnitine palmitoyltransferase 2 pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 2014-01-09 2014-01-09 100420556 NG_027096 PGOHUM00000244726 HGNC:49538 +HGNC:28116 CPTP ceramide-1-phosphate transfer protein protein-coding gene gene with protein product Approved 1p36.33 01p36.33 MGC10334 GLTPD1 glycolipid transfer protein domain containing 1 2007-12-19 2014-06-23 2014-06-23 2014-11-19 80772 ENSG00000224051 OTTHUMG00000003171 BC004366 NM_001029885 CCDS30555 Q5TA50 23863933 MGI:1933107 RGD:1359656 615467 HGNC:28116 "ENST00000343938.9|NM_001029885.2" +HGNC:14399 CPVL carboxypeptidase vitellogenic like protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "carboxypeptidase WUG|vitellogenic carboxypeptidase-like protein|CP-Mac carboxypeptidase" carboxypeptidase, vitellogenic-like M14 carboxypeptidases 1321 2001-01-12 2019-01-21 2019-01-21 54504 ENSG00000106066 OTTHUMG00000023669 uc003szx.4 AF106704 NM_019029 CCDS5419 Q9H3G5 11401439 MGI:1918537 RGD:1563609 609780 objectId:1583 HGNC:14399 "ENST00000265394.10|NM_031311.5" +HGNC:40685 CPVL-AS1 CPVL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 Antisense RNAs 1987 2019-07-25 2019-07-25 107986703 ENSG00000229452 OTTHUMG00000152828 XR_001744918 HGNC:40685 +HGNC:56138 CPVL-AS2 CPVL antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 Antisense RNAs 1987 2022-01-12 2022-01-12 100506497 ENSG00000272568 NR_038965 +HGNC:2332 CPXCR1 CPX chromosome region candidate 1 protein-coding gene gene with protein product Approved Xq21.31 Xq21.31 CT77 cancer/testis antigen 77 2000-05-02 2019-01-21 2020-04-02 53336 ENSG00000147183 OTTHUMG00000021950 uc004efd.5 AL031116 NM_033048 CCDS14458 Q8N123 11499681 MGI:2685989 RGD:2321886 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CPXCR1 301055 HGNC:2332 "ENST00000276127.9|NM_033048.6" +HGNC:15771 CPXM1 carboxypeptidase X, M14 family member 1 protein-coding gene gene with protein product Approved 20p13 20p13 "CPX-1|CPX1" carboxypeptidase-like protein X1 CPXM carboxypeptidase X (M14 family), member 1 M14 carboxypeptidases 1321 2001-09-17 2006-08-24 2016-07-20 2016-07-20 56265 ENSG00000088882 OTTHUMG00000031706 uc002wgu.4 AL035460 NM_019609 CCDS13033 Q96SM3 "14702039|26603934" MGI:1934569 RGD:1306937 609555 M14.952 objectId:1600 HGNC:15771 "ENST00000380605.3|NM_019609.5" +HGNC:26977 CPXM2 carboxypeptidase X, M14 family member 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "UNQ676|CPX2" cytosolic carboxypeptidase carboxypeptidase X (M14 family), member 2 M14 carboxypeptidases 1321 2004-07-21 2016-07-20 2016-10-05 119587 ENSG00000121898 OTTHUMG00000019206 uc001lhk.2 AY358565 NM_198148 CCDS7637 Q8N436 12975309 MGI:1926006 RGD:1310955 617348 M14.955 objectId:1601 HGNC:26977 "ENST00000241305.4|NM_198148.3" +HGNC:2333 CPZ carboxypeptidase Z protein-coding gene gene with protein product Approved 4p16.1 04p16.1 metallocarboxypeptidase Z M14 carboxypeptidases 1321 1998-10-16 2015-09-11 8532 ENSG00000109625 OTTHUMG00000090513 uc003glo.4 U83411 NM_003652 "CCDS43212|CCDS33953|CCDS3404" Q66K79 9099699 MGI:88487 RGD:620496 603105 M14.012 objectId:1602 HGNC:2333 "ENST00000360986.9|NM_001014447.3" +HGNC:2334 CR1 complement C3b/C4b receptor 1 (Knops blood group) protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "CD35|KN" "complement component (3b/4b) receptor 1, including Knops blood group system|complement component (3b/4b) receptor 1 (Knops blood group)|complement component 3b/4b receptor 1 (Knops blood group)" "Blood group antigens|CD molecules|Sushi domain containing|Complement system regulators and receptors" "454|471|1179|1639" 2001-06-22 2016-08-10 2021-04-13 1378 ENSG00000203710 OTTHUMG00000036311 uc001hfx.4 Y00816 NM_000573 "CCDS44308|CCDS44309" P17927 1708809 MGI:88513 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_814|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_814.xml" 120620 CD35 HGNC:2334 "ENST00000367049.9|NM_000651.6" +HGNC:2335 CR1L complement C3b/C4b receptor 1 like protein-coding gene gene with protein product Approved 1q32.2 01q32.2 complement component (3b/4b) receptor 1-like Sushi domain containing 1179 1989-04-24 2016-08-10 2018-07-13 1379 ENSG00000197721 OTTHUMG00000036354 uc001hga.5 AY114160 NM_175710 CCDS44310 Q2VPA4 2295627 MGI:88513 RGD:2399 605886 HGNC:2335 "ENST00000508064.7|NM_175710.2" +HGNC:2336 CR2 complement C3d receptor 2 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "CD21|C3DR" Epstein-Barr virus receptor "complement component (3d/Epstein Barr virus) receptor 2|complement component 3d receptor 2" "CD molecules|Sushi domain containing|Complement system regulators and receptors" "471|1179|1639" 2001-06-22 2016-08-10 2021-04-13 1380 ENSG00000117322 OTTHUMG00000036307 uc001hfv.4 M26004 NM_001877 "CCDS1478|CCDS31007" P20023 MGI:88489 RGD:1310065 LRG_348|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_348.xml 120650 160142 CD21 HGNC:2336 "ENST00000367057.8|NM_001006658.3" HGNC:2336 +HGNC:2338 CRABP1 cellular retinoic acid binding protein 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "CRABP|CRABP-I|CRABPI" RBP5 cellular retinoic acid-binding protein 1 Fatty acid binding protein family 550 1989-06-30 2001-11-28 2016-10-05 1381 ENSG00000166426 OTTHUMG00000143862 uc002bdp.2 NM_004378 CCDS10301 P29762 9154115 MGI:88490 RGD:2400 180230 objectId:2529 HGNC:2338 "ENST00000299529.7|NM_004378.3" +HGNC:2339 CRABP2 cellular retinoic acid binding protein 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CRABP-II cellular retinoic acid-binding protein 2 Fatty acid binding protein family 550 1992-11-25 2001-11-28 2016-10-05 1382 ENSG00000143320 OTTHUMG00000041300 uc021pbi.2 BC001109 NM_001878 CCDS1152 P29373 1654334 MGI:88491 RGD:62070 180231 objectId:2530 HGNC:2339 "ENST00000368222.8|NM_001878.4" +HGNC:29219 CRACD capping protein inhibiting regulator of actin dynamics protein-coding gene gene with protein product Approved 4q12 04q12 CRAD cancer-related regulator of actin dynamics KIAA1211 KIAA1211 2009-02-06 2019-08-15 2019-08-15 2019-08-15 57482 ENSG00000109265 OTTHUMG00000160749 uc003hbk.3 AB033037 NM_020722 CCDS43230 Q6ZU35 "10574462|11230166|30361697" MGI:2444817 RGD:1311575 618327 HGNC:29219 "ENST00000682029.1|NM_001393381.1" +HGNC:33454 CRACDL CRACD like protein-coding gene gene with protein product Approved 2q11.2 02q11.2 MGC42367 "C2orf55|KIAA1211L" "chromosome 2 open reading frame 55|KIAA1211 like" 2007-05-08 2020-01-20 2020-01-20 2020-01-20 343990 ENSG00000196872 OTTHUMG00000153171 uc002szf.2 BC068277 NM_207362 CCDS42720 Q6NV74 MGI:1919347 RGD:1310819 HGNC:33454 "ENST00000397899.7|NM_207362.3" +HGNC:28657 CRACR2A calcium release activated channel regulator 2A protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "MGC4266|RAB46" "Ca2+ release-activated Ca2+ (CRAC) channel regulator 2A|CRAC regulator 2A" EFCAB4B EF-hand calcium binding domain 4B EF-hand domain containing 863 2006-03-21 2014-07-02 2014-07-02 2021-09-16 84766 ENSG00000130038 OTTHUMG00000168185 BC004524 NM_032680 "CCDS44803|CCDS8522" Q9BSW2 "20418871|31092558" MGI:2685919 RGD:1563719 614178 HGNC:28657 "ENST00000440314.7|NM_001144958.2" +HGNC:28703 CRACR2B calcium release activated channel regulator 2B protein-coding gene gene with protein product Approved 11p15.5 11p15.5 MGC45840 "Ca2+ release-activated Ca2+ (CRAC) channel regulator 2B|CRAC regulator 2B" EFCAB4A EF-hand calcium binding domain 4A EF-hand domain containing 863 2006-03-21 2014-07-02 2014-07-02 2016-11-16 283229 ENSG00000177685 OTTHUMG00000165267 BC073821 NM_173584 "CCDS41588|CCDS65995" Q8N4Y2 20418871 MGI:2446129 RGD:1560911 614177 HGNC:28703 "ENST00000525077.2|NM_001286606.2" +HGNC:2340 CRADD CASP2 and RIPK1 domain containing adaptor with death domain protein-coding gene gene with protein product Approved 12q22 12q22 RAIDD RIP-associated ICH1/CED3-homologous protein with death domain Caspase recruitment domain containing 959 1999-05-07 2016-01-15 8738 ENSG00000169372 OTTHUMG00000170322 uc001tda.4 U84388 NM_003805 "CCDS81720|CCDS81722|CCDS81719|CCDS9048" P78560 "8985253|9044836" MGI:1336168 RGD:1311010 603454 303823 HGNC:2340 "ENST00000332896.8|NM_003805.5" HGNC:2340 +HGNC:56184 CRADD-AS1 CRADD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q22 12q22 Antisense RNAs 1987 2022-01-17 2022-01-17 101928731 ENSG00000258274 NR_110092 +HGNC:14122 CRAMP1 cramped chromatin regulator homolog 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 KIAA1426 CRAMP1L "Crm (Cramped Drosophila)-like|Crm, cramped-like (Drosophila)" Myb/SANT domain containing 532 2000-12-21 2015-08-20 2015-08-20 2015-08-20 57585 ENSG00000007545 OTTHUMG00000074087 AB037847 NM_020825 CCDS10440 Q96RY5 MGI:1930190 RGD:1311948 HGNC:14122 "ENST00000397412.8|NM_020825.4" +HGNC:2342 CRAT carnitine O-acetyltransferase protein-coding gene gene with protein product Approved 9q34.11 09q34.11 CAT1 carnitine acetyltransferase 1994-07-04 2010-04-27 2016-10-05 1384 ENSG00000095321 OTTHUMG00000147343 uc004bxh.4 X78706 NM_000755 CCDS6919 P43155 7829107 MGI:109501 RGD:1303031 600184 470132 2.3.1.7 HGNC:2342 "ENST00000318080.7|NM_000755.5" HGNC:2342 +HGNC:2343 CRB1 crumbs cell polarity complex component 1 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 LCA8 RP12 "crumbs (Drosophila) homolog 1|crumbs homolog 1 (Drosophila)|crumbs family member 1, photoreceptor morphogenesis associated" Crumbs complex 1223 1999-06-02 2018-11-09 2021-05-26 23418 ENSG00000134376 OTTHUMG00000035663 uc001gtz.4 NM_201253 "CCDS58053|CCDS53454|CCDS58052|CCDS1390" P82279 "10373321|10508521" MGI:2136343 RGD:1309947 Mutations of the Human Crumbs Homologue 1|http://www.retina-international.org/files/sci-news/crb1mut.htm 604210 120803 HGNC:2343 "ENST00000367400.8|NM_201253.3" HGNC:2343 +HGNC:18688 CRB2 crumbs cell polarity complex component 2 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "FLJ38464|FLJ16786" "crumbs homolog 2 (Drosophila)|crumbs family member 2" Crumbs complex 1223 2004-03-19 2018-11-09 2021-05-26 286204 ENSG00000148204 OTTHUMG00000020638 uc004bnx.3 AK095783 NM_173689 CCDS6852 Q5IJ48 14767562 MGI:2679260 RGD:1309368 609720 422255 HGNC:18688 "ENST00000373631.8|NM_173689.7" HGNC:18688 +HGNC:20237 CRB3 crumbs cell polarity complex component 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC17303 "crumbs homolog 3 (Drosophila)|crumbs family member 3" Crumbs complex 1223 2003-01-10 2018-11-09 2018-11-09 92359 ENSG00000130545 OTTHUMG00000181828 uc002mfa.4 AF503290 NM_139161 "CCDS12166|CCDS12167" Q9BUF7 MGI:2670904 RGD:1565035 609737 HGNC:20237 "ENST00000600229.6|NM_139161.5" +HGNC:49684 CRB3P1 crumbs cell polarity complex component 3 pseudogene 1 pseudogene pseudogene Approved 3p26.3 03p26.3 crumbs family member 3 pseudogene 1 2014-02-06 2016-02-22 2016-02-22 106480279 ENSG00000232563 OTTHUMG00000154882 NG_047144 PGOHUM00000237519 HGNC:49684 +HGNC:30185 CRBN cereblon protein-coding gene gene with protein product Approved 3p26.2 03p26.2 MRT2 MRT2A mental retardation, non-syndromic, autosomal recessive, 2A 2004-05-19 2021-05-26 51185 ENSG00000113851 OTTHUMG00000090261 uc003bpq.4 BC017419 NM_016302 "CCDS2562|CCDS54547" Q96SW2 15557513 MGI:1913277 RGD:1310533 609262 120811 objectId:3086 HGNC:30185 "ENST00000231948.9|NM_016302.4" HGNC:30185 +HGNC:17888 CRCP CGRP receptor component protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "CGRP-RCP|RCP|RCP9|C17|POLR3I" calcitonin gene-related peptide-receptor component protein RNA polymerase subunits 726 2008-11-28 2020-03-20 27297 ENSG00000241258 OTTHUMG00000129519 uc003tus.4 AF073792 NM_014478 "CCDS5532|CCDS47600|CCDS55116|CCDS47599" O75575 "8622957|10067875|12482973" MGI:1100818 RGD:620753 606121 HGNC:17888 "ENST00000395326.8|NM_014478.5" +HGNC:29875 CRCT1 cysteine rich C-terminal 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 NICE-1 C1orf42 "chromosome 1 open reading frame 42|cysteine-rich C-terminal 1" 2004-09-14 2006-12-18 2015-11-05 2016-10-05 54544 ENSG00000169509 OTTHUMG00000012391 uc001ezz.4 AJ243662 NM_019060 CCDS1012 Q9UGL9 11230159 MGI:1921425 RGD:1588886 617426 HGNC:29875 "ENST00000368790.4|NM_019060.3" +HGNC:2345 CREB1 cAMP responsive element binding protein 1 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 Basic leucine zipper proteins 506 1990-02-05 2016-10-05 1385 ENSG00000118260 OTTHUMG00000132936 uc002vcc.4 M27691 NM_134442 "CCDS2375|CCDS2374" P16220 MGI:88494 RGD:620218 CREB1 123810 246689 HGNC:2345 "ENST00000353267.8|NM_004379.5" +HGNC:2347 CREB3 cAMP responsive element binding protein 3 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "LZIP|Luman|sLZIP" small leucine zipper protein cAMP responsive element binding protein 3 (luman) "MicroRNA protein coding host genes|CREB3 transcription factor family" "1691|1970" 1999-10-13 2003-11-06 2014-11-19 10488 ENSG00000107175 OTTHUMG00000019872 uc003zxv.4 AF211848 NM_006368 CCDS6588 O43889 9271389 MGI:99946 RGD:1308831 606443 HGNC:2347 "ENST00000353704.3|NM_006368.5" +HGNC:18856 CREB3L1 cAMP responsive element binding protein 3 like 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 OASIS "BBF-2 homolog (drosophila)|old astrocyte specifically induced substance" CREB3 transcription factor family 1970 2003-12-09 2016-06-01 2021-05-26 90993 ENSG00000157613 OTTHUMG00000166423 uc021qik.3 NM_052854 CCDS53620 Q96BA8 MGI:1347062 RGD:1359613 CREB3L1 616215 209329 HGNC:18856 "ENST00000621158.5|NM_052854.4" HGNC:18856 +HGNC:23720 CREB3L2 cAMP responsive element binding protein 3 like 2 protein-coding gene gene with protein product Approved 7q33 07q33 "BBF2H7|TCAG_1951439" CREB3 transcription factor family 1970 2003-12-09 2016-06-01 2016-10-05 64764 ENSG00000182158 OTTHUMG00000155744 uc003vtw.4 AJ549092 NM_194071 "CCDS59083|CCDS34760" Q70SY1 MGI:2442695 RGD:1306040 CREB3L2 608834 209325 HGNC:23720 "ENST00000330387.11|NM_194071.4" +HGNC:41030 CREB3L2-AS1 CREB3L2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q33 07q33 Antisense RNAs 1987 2019-05-17 2019-05-17 100130880 ENSG00000237243 NR_161346 HGNC:41030 +HGNC:18855 CREB3L3 cAMP responsive element binding protein 3 like 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CREB-H|CREBH" cAMP-responsive element-binding protein, hepatic-specific CREB3 transcription factor family 1970 2003-12-09 2016-06-01 2021-05-26 84699 ENSG00000060566 OTTHUMG00000181846 uc002lzl.4 NM_032607 "CCDS62500|CCDS62499|CCDS62498|CCDS12121" Q68CJ9 11353085 MGI:2384786 RGD:1308152 611998 317857 HGNC:18855 "ENST00000078445.7|NM_032607.3" HGNC:18855 +HGNC:18854 CREB3L4 cAMP responsive element binding protein 3 like 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "AIbZIP|CREB4|CREB3|hJAL|ATCE1" CREB3 transcription factor family 1970 2003-12-09 2016-06-01 2016-10-05 148327 ENSG00000143578 OTTHUMG00000037159 uc001fdn.5 AF394167 NM_130898 "CCDS58029|CCDS1056" Q8TEY5 MGI:1916603 RGD:1359278 607138 HGNC:18854 "ENST00000368607.8|NM_001255978.2" +HGNC:16844 CREB5 cAMP responsive element binding protein 5 protein-coding gene gene with protein product Approved 7p15.1-p14.3 07p15.1-p14.3 "H_GS165L15.1|CRE-BPA" cAMP response element binding protein CRE-Bpa Basic leucine zipper proteins 506 2003-09-04 2018-02-13 9586 ENSG00000146592 OTTHUMG00000097081 uc003szq.3 L05515 NM_004904 "CCDS43563|CCDS5417|CCDS43562|CCDS5418" Q02930 "8378084|8440710" MGI:2443973 RGD:1566107 618262 HGNC:16844 "ENST00000357727.7|NM_182898.4" +HGNC:2348 CREBBP CREB binding protein protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "RTS|CBP|KAT3A" RSTS Rubinstein-Taybi syndrome "Zinc fingers ZZ-type|Lysine acetyltransferases|Bromodomain containing" "91|486|1232" 1995-01-10 2008-08-01 2021-04-13 1387 ENSG00000005339 OTTHUMG00000129431 uc002cvv.4 U85962 NM_004380 "CCDS45399|CCDS10509" Q92793 8413673 MGI:1098280 RGD:2401 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CREBBP|LRG_1426|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1426.xml" CREBBP 600140 120814 objectId:2734 HGNC:2348 "ENST00000262367.10|NM_004380.3" HGNC:2348 +HGNC:2350 CREBL2 cAMP responsive element binding protein like 2 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 cAMP responsive element binding protein-like 2 Basic leucine zipper proteins 506 1998-02-09 2016-03-08 2016-10-05 1389 ENSG00000111269 OTTHUMG00000168704 uc001rap.3 AF039081 NM_001310 CCDS8651 O60519 9693048 MGI:1889385 RGD:1309502 603476 HGNC:2350 "ENST00000228865.3|NM_001310.4" +HGNC:24050 CREBRF CREB3 regulatory factor protein-coding gene gene with protein product Approved 5q35.1 05q35.1 LRF luman/CREB3 recruitment factor C5orf41 chromosome 5 open reading frame 41 2007-11-27 2012-03-06 2012-03-06 2016-10-05 153222 ENSG00000164463 OTTHUMG00000163322 uc003mch.4 AY139008 NM_153607 "CCDS34293|CCDS54948" Q8IUR6 18391022 MGI:1924378 RGD:1310862 617109 HGNC:24050 "ENST00000296953.6|NM_153607.3" HGNC:24050 +HGNC:24905 CREBZF CREB/ATF bZIP transcription factor protein-coding gene gene with protein product Approved 11q14.1 11q14.1 ZF Zhangfei Basic leucine zipper proteins 506 2006-11-13 2014-11-19 58487 ENSG00000137504 OTTHUMG00000133648 uc001pas.3 AF039942 NM_001039618 CCDS41697 Q9NS37 10871379 MGI:2675296 RGD:1565584 606444 HGNC:24905 "ENST00000527447.2|NM_001039618.4" +HGNC:2351 CREG1 cellular repressor of E1A stimulated genes 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 CREG cellular repressor of E1A-stimulated genes 1999-06-24 2004-09-22 2016-01-07 2016-10-05 8804 ENSG00000143162 OTTHUMG00000034682 uc001gel.4 AF084523 NM_003851 CCDS1262 O75629 9710587 MGI:1344382 RGD:1306804 618055 HGNC:2351 "ENST00000370509.5|NM_003851.3" +HGNC:14272 CREG2 cellular repressor of E1A stimulated genes 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 2004-01-13 2016-01-07 2016-10-05 200407 ENSG00000175874 OTTHUMG00000130692 uc002tba.3 AB046109 NM_153836 CCDS2052 Q8IUH2 12408961 MGI:1928333 RGD:1564056 618540 HGNC:14272 "ENST00000324768.6|NM_153836.4" +HGNC:14630 CRELD1 cysteine rich with EGF like domains 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 CIRRIN AVSD2 atrioventricular septal defect 2 2001-02-16 2016-01-21 2021-05-26 78987 ENSG00000163703 OTTHUMG00000128653 uc003buh.3 AF452623 NM_015513 "CCDS2593|CCDS33693" Q96HD1 "10922384|12137942|30407909" MGI:2152539 RGD:1309412 607170 120819 HGNC:14630 "ENST00000452070.6|NM_001077415.3" HGNC:14630 +HGNC:28150 CRELD2 cysteine rich with EGF like domains 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 MGC11256 "cysteine-rich with EGF-like domains 2|cysteine rich with EGF-like domains 2" 2005-12-08 2016-01-21 2020-08-21 79174 ENSG00000184164 OTTHUMG00000150292 uc003bja.4 BC050675 NM_024324 "CCDS63516|CCDS14082|CCDS46730|CCDS63515" Q6UXH1 "12137942|16238698" MGI:1923987 RGD:1310614 607171 HGNC:28150 "ENST00000328268.9|NM_024324.5" +HGNC:2352 CREM cAMP responsive element modulator protein-coding gene gene with protein product Approved 10p11.21 10p11.21 hCREM-2 Basic leucine zipper proteins 506 1994-06-17 2016-10-05 1390 ENSG00000095794 OTTHUMG00000017953 uc001iyb.4 NM_001881 "CCDS53523|CCDS7181|CCDS53518|CCDS58074|CCDS53522|CCDS53517|CCDS7187|CCDS7180|CCDS53521|CCDS7183|CCDS7182|CCDS7188|CCDS31181|CCDS7186|CCDS7184|CCDS53520|CCDS58076|CCDS58075|CCDS7185|CCDS53519" Q03060 "1461747|7916662" MGI:88495 RGD:2402 123812 HGNC:2352 "ENST00000685392.1|NM_183011.2" +HGNC:2355 CRH corticotropin releasing hormone protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "CRF|CRH1" "corticotropin-releasing factor|corticoliberin" Neuropeptides 1902 1988-08-31 2016-10-25 1392 ENSG00000147571 OTTHUMG00000164474 uc003xvy.3 NM_000756 CCDS6188 P06850 25521515 MGI:88496 RGD:620505 122560 394137 ligandId:912 HGNC:2355 "ENST00000276571.5|NM_000756.4" HGNC:2355 +HGNC:2356 CRHBP corticotropin releasing hormone binding protein protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "CRF-BP|CRFBP" corticotropin releasing hormone-binding protein 1991-08-07 2001-11-28 2014-12-19 1393 ENSG00000145708 OTTHUMG00000102133 uc003ker.4 X58022 NM_001882 CCDS4034 P24387 8198617 MGI:88497 RGD:2403 122559 HGNC:2356 "ENST00000274368.9|NM_001882.4" +HGNC:2357 CRHR1 corticotropin releasing hormone receptor 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CRF-R|CRF1" corticotropin-releasing factor receptor CRHR Corticotropin releasing hormone receptors 266 1993-12-13 2015-09-11 1394 ENSG00000120088 OTTHUMG00000178271 uc002ijm.4 L23332 NM_001145146 "CCDS77049|CCDS58556|CCDS45714|CCDS45712|CCDS42350|CCDS45713" P34998 7590738 MGI:88498 RGD:61276 122561 objectId:212 HGNC:2357 "ENST00000314537.10|NM_004382.5" +HGNC:2358 CRHR2 corticotropin releasing hormone receptor 2 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "CRF2|CRF-RB|HM-CRF" Corticotropin releasing hormone receptors 266 1996-12-18 2015-08-26 1395 ENSG00000106113 OTTHUMG00000023218 uc003tbn.4 NM_001202475 "CCDS56477|CCDS75576|CCDS5429|CCDS56478" Q13324 8536644 MGI:894312 RGD:70547 602034 objectId:213 HGNC:2358 "ENST00000471646.6|NM_001883.5" +HGNC:2359 CRIM1 cysteine rich transmembrane BMP regulator 1 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 S52 "cysteine-rich motor neuron 1|cysteine rich transmembrane BMP regulator 1 (chordin-like)" Cysteine rich transmembrane BMP regulators 1660 1999-07-22 2016-06-10 2016-10-05 51232 ENSG00000150938 OTTHUMG00000099419 uc002rpd.4 AF168681 NM_016441 CCDS1783 Q9NZV1 10642437 MGI:1354756 RGD:1308710 606189 476789 HGNC:2359 "ENST00000280527.7|NM_016441.3" HGNC:2359 +HGNC:54057 CRIM1-DT CRIM1 divergent transcript non-coding RNA RNA, long non-coding Approved 2p22.2 02p22.2 Divergent transcripts 1990 2018-09-27 2018-09-27 100288911 ENSG00000260025 NR_037631 HGNC:54057 +HGNC:2360 CRIP1 cysteine rich protein 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 CRIP cysteine-rich protein 1 (intestinal) LIM domain containing 1218 1995-12-11 2016-01-28 2016-01-28 1396 ENSG00000213145 OTTHUMG00000029908 uc059gbj.1 NM_001311 CCDS10004 P50238 9480758 MGI:88501 RGD:1597237 123875 HGNC:2360 "ENST00000392531.4|NM_001311.5" +HGNC:44516 CRIP1P1 cysteine rich protein 1 pseudogene 1 pseudogene pseudogene Approved 3p25.2 03p25.2 cysteine-rich protein 1 (intestinal) pseudogene 1 2012-11-14 2016-01-28 2016-01-28 106480793 ENSG00000233252 OTTHUMG00000155339 NG_044117 PGOHUM00000237942 HGNC:44516 +HGNC:44517 CRIP1P2 cysteine rich protein 1 pseudogene 2 pseudogene pseudogene Approved 3p24.2 03p24.2 cysteine-rich protein 1 (intestinal) pseudogene 2 2012-11-14 2016-01-28 2016-01-28 641456 ENSG00000238225 OTTHUMG00000155595 NG_005345 PGOHUM00000237964 HGNC:44517 +HGNC:44518 CRIP1P3 cysteine rich protein 1 pseudogene 3 pseudogene pseudogene Approved 1q32.1 01q32.1 cysteine-rich protein 1 (intestinal) pseudogene 3 2012-11-14 2016-01-28 2016-01-28 106479040 ENSG00000227109 OTTHUMG00000035927 NG_044424 PGOHUM00000245159 HGNC:44518 +HGNC:44519 CRIP1P4 cysteine rich protein 1 pseudogene 4 pseudogene pseudogene Approved 22q11.23 22q11.23 cysteine-rich protein 1 (intestinal) pseudogene 4 2012-11-14 2016-01-28 2016-01-28 641457 ENSG00000182351 OTTHUMG00000150730 NG_005346 PGOHUM00000246546 HGNC:44519 +HGNC:2361 CRIP2 cysteine rich protein 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "CRP2|ESP1" LIM domain containing 1218 1997-06-18 2016-01-28 2016-10-05 1397 ENSG00000182809 OTTHUMG00000029906 uc001yrd.3 NM_001312 "CCDS10003|CCDS59246" P52943 "8843343|10681529" MGI:1915587 RGD:1302959 601183 HGNC:2361 "ENST00000329146.9|NM_001312.4" +HGNC:17751 CRIP3 cysteine rich protein 3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TLP-A|bA480N24.2|TLP" LIM domain containing 1218 2003-11-26 2016-01-28 2016-10-05 401262 ENSG00000146215 OTTHUMG00000014727 uc003ouu.2 AY555741 NM_001366068 CCDS4894 Q6Q6R5 15380775 MGI:2152434 RGD:1565018 HGNC:17751 "ENST00000372569.8|NM_206922.3" +HGNC:14312 CRIPT CXXC repeat containing interactor of PDZ3 domain protein-coding gene gene with protein product Approved 2p21 02p21 HSPC139 cysteine-rich PDZ-binding protein 2006-06-22 2016-01-28 2021-05-26 9419 ENSG00000119878 OTTHUMG00000128815 uc002rve.5 AA165108 NM_014171 CCDS1829 Q9P021 "16091592|11744724|10570482|9581762" MGI:1929655 RGD:621545 604594 HGNC:14312 "ENST00000238892.4|NM_014171.6" HGNC:14312 +HGNC:304 CRISP1 cysteine rich secretory protein 1 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "CRISP-1|ARP|HUMARP|HSCRISP1D|HSCRISP1G" AEGL1 acidic epididymal glycoprotein-like 1 Cysteine rich secretory protein family 1355 1995-09-29 2003-09-05 2016-01-28 2020-09-17 167 ENSG00000124812 OTTHUMG00000014827 uc021zaj.2 D38451 NM_001131 "CCDS4931|CCDS4932" P54107 8838800 MGI:1925331 RGD:1590757 601193 HGNC:304 "ENST00000335847.9|NM_001131.3" +HGNC:12024 CRISP2 cysteine rich secretory protein 2 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "CRISP-2|CT36" cancer/testis antigen 36 "GAPDL5|TPX1" testis specific protein 1 (probe H4-1 p3-1) Cysteine rich secretory protein family 1355 1989-10-20 2003-09-05 2016-01-28 2016-01-28 7180 ENSG00000124490 OTTHUMG00000014822 uc031sou.1 X95239 NM_003296 CCDS4928 P16562 "2613236|8665901" MGI:98815 RGD:621653 187430 HGNC:12024 "ENST00000339139.5|NM_003296.4" +HGNC:16904 CRISP3 cysteine rich secretory protein 3 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "SGP28|CRISP-3|CRS3|dJ442L6.3|Aeg2" Cysteine rich secretory protein family 1355 2003-09-03 2016-01-28 2016-04-25 10321 ENSG00000096006 OTTHUMG00000014823 uc003ozs.5 X94323 NM_006061 "CCDS55019|CCDS4929" P54108 "8665901|12223513" "MGI:102552|MGI:102553" RGD:619846 618062 HGNC:16904 "ENST00000263045.9|NM_006061.4" +HGNC:18206 CRISPLD1 cysteine rich secretory protein LCCL domain containing 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "Cocoacrisp|DKFZp762F133" LCRISP1 LCCL domain containing cysteine-rich secretory protein 1 2005-02-11 2005-02-16 2016-01-28 2017-05-25 83690 ENSG00000121005 OTTHUMG00000164529 uc003yan.5 AL834301 NM_031461 "CCDS75754|CCDS6219|CCDS69497" Q9H336 MGI:1934666 RGD:1564813 HGNC:18206 "ENST00000262207.9|NM_031461.6" +HGNC:25248 CRISPLD2 cysteine rich secretory protein LCCL domain containing 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "DKFZP434B044|LGL1" late gestation lung 1 LCRISP2 LCCL domain containing cysteine-rich secretory protein 2 2005-02-11 2005-02-16 2016-01-28 2016-11-01 83716 ENSG00000103196 OTTHUMG00000137644 uc010voh.2 AL136861 NM_031476 CCDS10949 Q9H0B8 "11230166|27597766" MGI:1926142 RGD:620860 612434 HGNC:25248 "ENST00000262424.10|NM_031476.4" +HGNC:2362 CRK CRK proto-oncogene, adaptor protein protein-coding gene gene with protein product Approved 17p13.3 17p13.3 v-crk avian sarcoma virus CT10 oncogene homolog SH2 domain containing 741 1992-12-07 2016-06-17 2016-10-05 1398 ENSG00000167193 OTTHUMG00000090317 uc002fsl.4 D10656 NM_016823 "CCDS11002|CCDS45561" P46108 1690891 MGI:88508 RGD:2405 164762 HGNC:2362 "ENST00000300574.3|NM_016823.4" +HGNC:2363 CRKL CRK like proto-oncogene, adaptor protein protein-coding gene gene with protein product Approved 22q11.21 22q11.21 v-crk avian sarcoma virus CT10 oncogene homolog-like SH2 domain containing 741 1994-09-14 2016-06-17 2021-05-26 1399 ENSG00000099942 OTTHUMG00000150807 uc002ztf.2 NM_005207 CCDS13785 P46109 "8361759|8798523" MGI:104686 RGD:1308531 602007 325261 HGNC:2363 "ENST00000354336.8|NM_005207.4" +HGNC:2364 CRLF1 cytokine receptor like factor 1 protein-coding gene gene with protein product Approved 19p12 19p12 "CLF-1|CLF|CISS|CISS1" cold-induced sweating syndrome Fibronectin type III domain containing 555 1999-02-26 2016-04-26 2018-04-23 9244 ENSG00000006016 OTTHUMG00000183111 uc010ebt.3 AF059293 NM_004750 CCDS32962 O75462 9686600 MGI:1340030 RGD:1311371 604237 123381 ligandId:4904 HGNC:2364 "ENST00000392386.8|NM_004750.5" HGNC:2364 +HGNC:14281 CRLF2 cytokine receptor like factor 2 protein-coding gene gene with protein product Approved Xp22.3 and Yp11.3 Xp22.3 and Yp11.3 "CRL2|TSLPR" "Fibronectin type III domain containing|Pseudoautosomal region 1" "555|715" 2001-02-06 2017-05-12 2017-05-12 64109 ENSG00000205755 OTTHUMG00000067432 uc065cmw.1 AF142570 NM_022148 "CCDS75944|CCDS75945" Q9HC73 "11237741|11474172" MGI:1889506 RGD:621078 CRLF2 "300357|400023" objectId:1704 HGNC:14281 "ENST00000400841.8|NM_022148.4" +HGNC:17177 CRLF3 cytokine receptor like factor 3 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "CREME9|CYTOR4" cytokine receptor-like factor 3 Fibronectin type III domain containing 555 2001-11-16 2016-03-30 2021-04-13 51379 ENSG00000176390 OTTHUMG00000179005 uc002hfr.5 AF120151 NM_015986 CCDS32607 Q8IUI8 MGI:1860086 RGD:621517 LRG_648|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_648.xml 614853 HGNC:17177 "ENST00000324238.7|NM_015986.4" +HGNC:54732 CRLF3P1 CRLF3 pseudogene 1 pseudogene pseudogene Approved 2q12.1 02q12.1 2019-12-18 2020-01-21 728815 ENSG00000236596 NG_006659 +HGNC:54733 CRLF3P2 CRLF3 pseudogene 2 pseudogene pseudogene Approved 5q21.1 05q21.1 2019-12-18 2020-01-21 285706 ENSG00000250391 NG_002450 +HGNC:54742 CRLF3P3 CRLF3 pseudogene 3 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-19 2020-01-21 100124401 ENSG00000228225 NG_006660 +HGNC:16148 CRLS1 cardiolipin synthase 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "dJ967N21.6|CLS1|GCD10" GCD10 homolog (S. cerevisiae) C20orf155 chromosome 20 open reading frame 155 2001-07-17 2006-04-04 2006-04-04 2016-10-05 54675 ENSG00000088766 OTTHUMG00000031823 uc002wmn.5 AF241784 NM_019095 "CCDS13096|CCDS46578" Q9UJA2 16547353 MGI:1913836 RGD:1311037 608188 2.7.8.41 HGNC:16148 "ENST00000378863.9|NM_019095.6" +HGNC:26393 CRMA cardiomyocyte maturation associated lncRNA non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 "FLJ30313|CARMA" CARdiomyocyte Maturation-Associated lncRNA "C20orf200|NCRNA00335|C20orf166-AS1|MIR1-1HG-AS1" "chromosome 20 open reading frame 200|non-protein coding RNA 335|C20orf166 antisense RNA 1 (non-protein coding)|C20orf166 antisense RNA 1|MIR1-1HG antisense RNA 1" Long non-coding RNAs with non-systematic symbols 1992 2007-07-10 2021-09-27 2021-09-27 2021-09-27 253868 ENSG00000174403 OTTHUMG00000048002 uc002ycy.5 AK054875 NR_033263 34459880 C20orf166-AS1 HGNC:26393 +HGNC:2365 CRMP1 collapsin response mediator protein 1 protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "DRP-1|DPYSL1" M38 metallopeptidases 1446 1997-01-16 2016-10-05 1400 ENSG00000072832 OTTHUMG00000125489 uc003gis.5 D78012 NM_001313 "CCDS33950|CCDS43207|CCDS75102" Q14194 8973361 MGI:107793 RGD:2407 602462 M38.974 HGNC:2365 "ENST00000324989.12|NM_001014809.3" +HGNC:37078 CRNDE colorectal neoplasia differentially expressed non-coding RNA RNA, long non-coding Approved 16q12.2 16q12.2 "LOC643911|LINC00180|CRNDEP" long intergenic non-protein coding RNA 180 colorectal neoplasia differentially expressed (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2009-06-23 2017-01-19 2022-04-06 643911 ENSG00000245694 OTTHUMG00000172236 uc010vhb.5 NR_034105 "23226159|24381249|25978564" MGI:1918546 RGD:10398753 615624 crnde HGNC:37078 +HGNC:15762 CRNKL1 crooked neck pre-mRNA splicing factor 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "CRN|CLF|SYF3|Clf1" SYF3 pre-mRNA-splicing factor "crooked neck (Drosophila Crn homolog)-like 1|Crn, crooked neck-like 1 (Drosophila)|crooked neck pre-mRNA splicing factor-like 1 (Drosophila)" "Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1507|1508|1510|1516" 2001-05-31 2013-10-03 2016-10-05 51340 ENSG00000101343 OTTHUMG00000032000 uc061vse.1 AF255443 NM_001278625 "CCDS63238|CCDS33446|CCDS63239" Q9BZJ0 MGI:1914127 RGD:620507 610952 HGNC:15762 "ENST00000536226.2|NM_001278628.2" +HGNC:1230 CRNN cornulin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 SEP53 C1orf10 chromosome 1 open reading frame 10 "EF-hand domain containing|S100 fused type protein family" "863|1350" 2000-03-15 2005-06-13 2005-06-13 2020-09-17 49860 ENSG00000143536 OTTHUMG00000012383 uc001ezx.3 AF077831 NM_016190 CCDS1010 Q9UBG3 "11056050|15854041" MGI:2685861 RGD:1311778 611312 HGNC:1230 "ENST00000271835.3|NM_016190.3" +HGNC:21299 CROCC ciliary rootlet coiled-coil, rootletin protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "rootletin|ROLT" rootletin, ciliary rootlet protein 2003-06-19 2009-03-04 2009-03-04 2015-09-11 9696 ENSG00000058453 OTTHUMG00000002200 uc001azt.2 AB007914 NM_014675 CCDS30616 Q5TZA2 "12427867|17971504" MGI:3529431 RGD:1305364 615776 HGNC:21299 "ENST00000375541.10|NM_014675.5" +HGNC:51677 CROCC2 ciliary rootlet coiled-coil, rootletin family member 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 2015-05-01 2015-09-11 728763 ENSG00000226321 OTTHUMG00000151855 NM_001351305 H7BZ55 23044541 MGI:3045962 RGD:7728853 HGNC:51677 "ENST00000690015.1|NM_001351305.2" +HGNC:33602 CROCCP1 CROCC pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 CROCCP ciliary rootlet coiled-coil, rootletin pseudogene 2007-08-14 2010-07-08 2019-01-21 2019-01-21 392547 ENSG00000225769 OTTHUMG00000022480 NG_009690 PGOHUM00000264148 HGNC:33602 +HGNC:28170 CROCCP2 CROCC pseudogene 2 pseudogene pseudogene Approved 1p36.13 01p36.13 MGC12760 CROCCL1 ciliary rootlet coiled-coil, rootletin-like 1 2007-08-14 2010-07-08 2019-01-21 2019-01-21 84809 ENSG00000215908 OTTHUMG00000037884 AK090414 NR_026752.1 Q86T23 12477932 PGOHUM00000243917 HGNC:28170 +HGNC:29405 CROCCP3 CROCC pseudogene 3 pseudogene pseudogene Approved 1p36.13 01p36.13 KIAA1922 CROCCL2 "ciliary rootlet coiled-coil, rootletin-like 2|ciliary rootlet coiled-coil, rootletin pseudogene 3" 2007-08-14 2010-07-08 2019-01-21 2019-01-21 114819 ENSG00000080947 OTTHUMG00000037885 AB067509 XM_057040 Q8IVE0 11572484 PGOHUM00000243914 HGNC:29405 +HGNC:43864 CROCCP4 CROCC pseudogene 4 pseudogene pseudogene Approved 1p36.13 01p36.13 ciliary rootlet coiled-coil, rootletin pseudogene 4 2012-04-04 2019-01-21 2019-01-21 100421113 ENSG00000227684 OTTHUMG00000057485 NG_027067 PGOHUM00000244623 HGNC:43864 +HGNC:43865 CROCCP5 CROCC pseudogene 5 pseudogene pseudogene Approved 1p36.12 01p36.12 ciliary rootlet coiled-coil, rootletin pseudogene 5 2012-04-04 2019-01-21 2019-01-21 100421114 ENSG00000186543 OTTHUMG00000002943 NG_027071 PGOHUM00000264165 HGNC:43865 +HGNC:2366 CROT carnitine O-octanoyltransferase protein-coding gene gene with protein product Approved 7q21.12 07q21.12 COT 2000-06-29 2020-03-10 54677 ENSG00000005469 OTTHUMG00000023653 uc003uit.4 NM_021151 "CCDS47634|CCDS5604|CCDS59062" Q9UKG9 10486279 MGI:1921364 RGD:70908 606090 2.3.1.137 HGNC:2366 "ENST00000331536.8|NM_021151.4" +HGNC:2367 CRP C-reactive protein protein-coding gene gene with protein product Approved 1q23.2 01q23.2 PTX1 pentraxin 1 C-reactive protein, pentraxin-related Short pentraxins 1143 2001-06-22 2016-08-18 2016-08-18 1401 ENSG00000132693 OTTHUMG00000035344 uc001ftw.3 M11725 NM_000567 "CCDS86024|CCDS30911" P02741 "3840479|6857266" MGI:88512 RGD:2411 123260 HGNC:2367 "ENST00000255030.9|NM_000567.3" +HGNC:2368 CRPP1 C-reactive protein pseudogene 1 pseudogene pseudogene Approved 1q23.2 01q23.2 2001-06-22 2014-11-19 171422 ENSG00000223603 OTTHUMG00000035345 NG_001016 PGOHUM00000244305 HGNC:2368 +HGNC:37276 CRPPA CDP-L-ribitol pyrophosphorylase A protein-coding gene gene with protein product Approved 7p21.2 07p21.2 "hCG_1745121|IspD|Nip" "notch1-induced protein|4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)|D-ribitol-5-phosphate cytidylyltransferase" ISPD isoprenoid synthase domain containing 2009-10-02 2019-01-11 2019-01-11 2021-05-26 729920 ENSG00000214960 OTTHUMG00000152447 uc010ktx.2 AK124805 NM_001101426 A4D126 "11181995|28810660" MGI:1923097 RGD:1359368 614631 302938 2.7.7.40 HGNC:37276 "ENST00000407010.7|NM_001101426.4" HGNC:37276 +HGNC:48962 CRPPA-AS1 CRPPA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p21.2 07p21.2 ISPD-AS1 ISPD antisense RNA 1 Antisense RNAs 1987 2013-07-23 2019-01-11 2019-01-11 2019-01-11 100506025 ENSG00000229688 OTTHUMG00000152466 NR_038946 ISPD-AS1 HGNC:48962 +HGNC:2374 CRSP5 cofactor required for Sp1 transcriptional activation subunit 5 other unknown Approved reserved reserved CRSP85 cofactor required for Sp1 transcriptional activation, subunit 5 (85kD) 1999-07-21 2018-03-22 2019-06-20 10688 10377381 +HGNC:14882 CRTAC1 cartilage acidic protein 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "FLJ10320|CEP-68|ASPIC1" 2001-05-11 2016-10-05 55118 ENSG00000095713 OTTHUMG00000018871 uc001kou.2 AJ276171 NM_018058 "CCDS31266|CCDS55723" Q9NQ79 11139377 MGI:1920082 RGD:621085 606276 HGNC:14882 "ENST00000370597.8|NM_018058.7" +HGNC:24313 CRTAM cytotoxic and regulatory T cell molecule protein-coding gene gene with protein product Approved 11q24.1 11q24.1 CD355 class I MHC restricted T cell associated molecule "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 2006-06-27 2017-12-06 2017-12-06 56253 ENSG00000109943 OTTHUMG00000166026 uc001pyj.4 AF001622 NM_019604 "CCDS76489|CCDS8437" O95727 "10811014|16300832" MGI:1859822 RGD:1304602 612597 HGNC:24313 "ENST00000227348.9|NM_019604.4" +HGNC:2379 CRTAP cartilage associated protein protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "CASP|LEPREL3|P3H5" "leprecan-like 3|prolyl 3-hydroxylase family member 5 (non-enzymatic)" Prolyl 3-hydroxylase family 1925 1999-10-19 2021-05-26 10491 ENSG00000170275 OTTHUMG00000130746 uc003cfl.5 AJ006470 NM_001393363 CCDS2657 O75718 "9217321|10429950" MGI:1891221 RGD:7602347 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=CRTAP|LRG_4|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_4.xml" 605497 138847 HGNC:2379 "ENST00000320954.11|NM_006371.5" HGNC:2379 +HGNC:16062 CRTC1 CREB regulated transcription coactivator 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KIAA0616|FLJ14027|TORC1" transducer of regulated cAMP response element-binding protein MECT1 mucoepidermoid carcinoma translocated 1 2001-08-01 2005-11-24 2005-11-24 2016-10-05 23373 ENSG00000105662 OTTHUMG00000183115 uc002nkb.5 AY040323 NM_025021 "CCDS32963|CCDS42525" Q6UUV9 "12539049|14536081|14506290" MGI:2142523 RGD:1589158 CRTC1 607536 HGNC:16062 "ENST00000321949.13|NM_015321.3" +HGNC:54616 CRTC1P1 CRTC1 pseudogene 1 pseudogene pseudogene Approved 2p16.3 02p16.3 2019-10-16 2020-01-21 129656 ENSG00000204993 NG_021564 +HGNC:27301 CRTC2 CREB regulated transcription coactivator 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 TORC2 2005-11-24 2014-11-19 200186 ENSG00000160741 OTTHUMG00000037156 uc057leo.1 AY360172 NM_181715 CCDS30875 Q53ET0 "14506290|14536081" MGI:1921593 RGD:1308903 608972 HGNC:27301 "ENST00000368633.2|NM_181715.3" +HGNC:26148 CRTC3 CREB regulated transcription coactivator 3 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FLJ21868 2005-11-24 2019-08-20 64784 ENSG00000140577 OTTHUMG00000172295 uc002bpp.5 NM_022769 "CCDS32331|CCDS45348" Q6UUV7 "14536081|14506290" MGI:1917711 RGD:1309666 CRTC3 608986 HGNC:26148 "ENST00000268184.11|NM_022769.5" +HGNC:51433 CRTC3-AS1 CRTC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Antisense RNAs 1987 2014-11-26 2014-11-26 101926895 ENSG00000259736 OTTHUMG00000172335 BG472948 NR_120372 CRTC3-AS1 HGNC:51433 +HGNC:2383 CRX cone-rod homeobox protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "CRD|LCA7|OTX3" orthodenticle homeobox 3 CORD2 PRD class homeoboxes and pseudogenes 521 1998-03-25 2021-05-26 1406 ENSG00000105392 OTTHUMG00000170610 uc002phq.5 AF024711 NM_000554 CCDS12706 O43186 "9390563|9537410" MGI:1194883 RGD:620511 Mutations of the Cone Rod Homeobox Gene|http://www.retina-international.org/files/sci-news/crxmut.htm 602225 8425 120822 HGNC:2383 "ENST00000221996.12|NM_000554.6" HGNC:2383 +HGNC:2384 CRY1 cryptochrome circadian regulator 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 PHLL1 "cryptochrome 1 (photolyase-like)|cryptochrome circadian clock 1" 1996-10-26 2017-10-02 2021-05-26 1407 ENSG00000008405 OTTHUMG00000170005 uc001tmi.5 BC030519 NM_004075 CCDS9112 Q16526 8921389 MGI:1270841 RGD:735083 601933 objectId:2876 HGNC:2384 "ENST00000008527.10|NM_004075.5" +HGNC:2385 CRY2 cryptochrome circadian regulator 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "cryptochrome 2 (photolyase-like)|cryptochrome circadian clock 2" 1997-03-21 2017-10-02 2017-10-02 1408 ENSG00000121671 OTTHUMG00000153225 uc010rgn.2 AB014558 NM_021117 CCDS44576 Q49AN0 8909283 MGI:1270859 RGD:620935 603732 HGNC:2385 "ENST00000616080.2|NM_021117.5" +HGNC:2388 CRYAA crystallin alpha A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 HSPB4 CRYA1 crystallin, alpha A Small heat shock proteins 585 1986-01-01 2015-11-12 2021-05-26 1409 ENSG00000160202 OTTHUMG00000086842 uc002zdd.3 NM_000394 "CCDS86989|CCDS13695" P02489 MGI:88515 RGD:2413 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYAA 123580 120828 HGNC:2388 "ENST00000291554.6|NM_000394.4" HGNC:2388 +HGNC:2389 CRYAB crystallin alpha B protein-coding gene gene with protein product Approved 11q23.1 11q23.1 HSPB5 CRYA2 crystallin, alpha B Small heat shock proteins 585 1987-09-11 2015-11-12 2021-05-26 1410 ENSG00000109846 OTTHUMG00000166885 uc058hgc.1 NM_001289807 "CCDS8351|CCDS81626" P02511 8431633 MGI:88516 RGD:2414 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYAB|LRG_407|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_407.xml" 123590 120832 HGNC:2389 "ENST00000650687.2|NM_001289808.2" HGNC:2389 +HGNC:2394 CRYBA1 crystallin beta A1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 eye lens structural protein CRYB1 crystallin, beta A1 Beta-gamma crystallins 1359 1986-01-01 2015-11-12 2021-05-26 1411 ENSG00000108255 OTTHUMG00000132729 uc002hdw.4 NM_005208 CCDS11249 P05813 "3745196|3770741" MGI:88518 RGD:2415 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYBA1 123610 120836 HGNC:2394 "ENST00000225387.8|NM_005208.5" HGNC:2394 +HGNC:2395 CRYBA2 crystallin beta A2 protein-coding gene gene with protein product Approved 2q35 02q35 crystallin, beta A2 Beta-gamma crystallins 1359 1994-08-18 2015-11-12 2021-05-26 1412 ENSG00000163499 OTTHUMG00000133084 uc002vjj.2 NM_057093 CCDS2429 P53672 "7490092|12907171" MGI:104336 RGD:628768 600836 409839 HGNC:2395 "ENST00000295728.7|NM_057093.2" HGNC:2395 +HGNC:2396 CRYBA4 crystallin beta A4 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 crystallin, beta A4 Beta-gamma crystallins 1359 1991-07-25 2015-11-12 2021-05-26 1413 ENSG00000196431 OTTHUMG00000150983 uc003acz.4 NM_001886 CCDS13841 P53673 "8999933|960806" MGI:102716 RGD:61962 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYBA4 123631 120839 HGNC:2396 "ENST00000354760.4|NM_001886.3" HGNC:2396 +HGNC:2397 CRYBB1 crystallin beta B1 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 crystallin, beta B1 Beta-gamma crystallins 1359 1994-08-18 2015-11-12 2021-05-26 1414 ENSG00000100122 OTTHUMG00000150980 uc003acy.2 NM_001887 CCDS13840 P53674 "8575764|12360425" MGI:104992 RGD:2416 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYBB1|LRG_1271|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1271.xml" 600929 123359 HGNC:2397 "ENST00000647684.1|NM_001887.4" HGNC:2397 +HGNC:2398 CRYBB2 crystallin beta B2 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "CCA2|CRYB2A|CRYB2" crystallin, beta B2 Beta-gamma crystallins 1359 1991-06-28 2015-11-12 2021-05-26 1415 ENSG00000244752 OTTHUMG00000150905 uc003abp.2 NM_000496 CCDS13831 P43320 "9158139|8224918" MGI:88519 RGD:2417 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYBB2 123620 120841 HGNC:2398 "ENST00000398215.3|NM_000496.3" HGNC:2398 +HGNC:2399 CRYBB2P1 crystallin beta B2 pseudogene 1 pseudogene pseudogene Approved 22q11.2-q12.1 22q11.2-q12.1 CRYB2B crystallin, beta B2 pseudogene 1 1991-06-28 2015-11-12 2015-11-12 1416 ENSG00000100058 OTTHUMG00000150874 M18441 NR_033733 PGOHUM00000246551 HGNC:2399 +HGNC:2400 CRYBB3 crystallin beta B3 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 CRYB3 crystallin, beta B3 Beta-gamma crystallins 1359 1988-05-11 2015-11-12 2021-05-26 1417 ENSG00000100053 OTTHUMG00000150869 uc003abo.3 NM_004076 CCDS13830 P26998 8999933 MGI:102717 RGD:61980 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYBB3 123630 120846 HGNC:2400 "ENST00000215855.7|NM_004076.5" HGNC:2400 +HGNC:356 CRYBG1 crystallin beta-gamma domain containing 1 protein-coding gene gene with protein product Approved 6q21 06q21 suppression of tumorigenicity 4 "ST4|AIM1" "suppression of tumorigenicity 4 (malignant melanoma)|absent in melanoma 1" Beta-gamma crystallin domain containing 1360 1997-06-12 2017-03-23 2017-03-23 2020-09-17 202 ENSG00000112297 OTTHUMG00000015302 uc284pzd.1 U83115 NM_001371242 CCDS34506 Q9Y4K1 "1680551|12693952" MGI:109544 RGD:1308629 601797 HGNC:356 "ENST00000633556.3|NM_001371242.2" +HGNC:17295 CRYBG2 crystallin beta-gamma domain containing 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ38020 beta-gamma crystallin domain containing 2 AIM1L absent in melanoma 1 like Beta-gamma crystallin domain containing 1360 2001-11-30 2017-03-23 2017-03-23 2017-03-23 55057 ENSG00000176092 OTTHUMG00000003490 uc001bmd.4 NM_001039775.2 Q8N1P7 MGI:1334463 RGD:1308621 619765 HGNC:17295 "ENST00000308182.10|NM_001039775.4" +HGNC:34427 CRYBG3 crystallin beta-gamma domain containing 3 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 DKFZp667G2110 beta-gamma crystallin domain containing 3 Beta-gamma crystallin domain containing 1360 2008-09-25 2015-11-12 2017-03-03 131544 ENSG00000080200 OTTHUMG00000159187 uc021xbn.3 NM_153605 CCDS43113 Q68DQ2 MGI:2676311 RGD:1305628 HGNC:34427 "ENST00000389622.7|NM_153605.4" +HGNC:2408 CRYGA crystallin gamma A protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "CRYG5|CRY-g-A" gamma crystallin 5 CRYG1 crystallin, gamma A Beta-gamma crystallins 1359 1986-01-01 2015-11-12 2016-10-05 1418 ENSG00000168582 OTTHUMG00000154796 uc002vcq.5 NM_014617 CCDS33367 P11844 MGI:88521 RGD:1595217 123660 470136 HGNC:2408 "ENST00000304502.5|NM_014617.4" +HGNC:2409 CRYGB crystallin gamma B protein-coding gene gene with protein product Approved 2q33.3 02q33.3 CRYG2 "crystallin, gamma 1-2|crystallin, gamma B" Beta-gamma crystallins 1359 1986-01-01 2015-11-12 2021-05-26 1419 ENSG00000182187 OTTHUMG00000132941 uc002vcp.5 NM_005210 CCDS2380 P07316 MGI:88522 RGD:1584991 123670 333104 HGNC:2409 "ENST00000260988.5|NM_005210.4" HGNC:2409 +HGNC:2410 CRYGC crystallin gamma C protein-coding gene gene with protein product Approved 2q33.3 02q33.3 CRYG3 crystallin, gamma C Beta-gamma crystallins 1359 1986-01-01 2015-11-12 2021-05-26 1420 ENSG00000163254 OTTHUMG00000132942 uc002vco.4 NM_020989 CCDS2379 P07315 MGI:88523 RGD:2421 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYGC 123680 120849 HGNC:2410 "ENST00000282141.4|NM_020989.4" HGNC:2410 +HGNC:2411 CRYGD crystallin gamma D protein-coding gene gene with protein product Approved 2q33.3 02q33.3 CRYG4 crystallin, gamma D Beta-gamma crystallins 1359 1986-01-01 2015-11-12 2021-05-26 1421 ENSG00000118231 OTTHUMG00000132944 uc002vcn.5 NM_006891 CCDS2378 P07320 MGI:88524 RGD:2422 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYGD 123690 120852 HGNC:2411 "ENST00000264376.5|NM_006891.4" HGNC:2411 +HGNC:2412 CRYGEP crystallin gamma E, pseudogene pseudogene pseudogene Approved 2q33.3 02q33.3 G2 "CRYG5|CCL|CRYGEP1" "crystallin, gamma E pseudogene 1|crystallin, gamma E, pseudogene" Beta-gamma crystallins 1359 1986-01-01 2009-12-02 2015-11-12 2015-11-12 200575 ENSG00000229150 OTTHUMG00000154792 K03007 NG_002762 8004095 PGOHUM00000240506 HGNC:2412 +HGNC:2413 CRYGFP crystallin gamma F, pseudogene pseudogene pseudogene Approved 2q34 02q34 p1 "CRYG6|CRYGFP1" "crystallin, gamma F pseudogene 1|crystallin, gamma F pseudogene" Beta-gamma crystallins 1359 1986-01-01 2007-12-17 2015-11-12 2015-11-12 1423 ENSG00000232799 OTTHUMG00000154708 K03009 NG_001107 PGOHUM00000241095 HGNC:2413 +HGNC:2414 CRYGGP crystallin gamma G, pseudogene pseudogene pseudogene Approved 2p16.3 02p16.3 CRYGGP1 "crystallin, gamma G pseudogene 1|crystallin, gamma G, pseudogene" Beta-gamma crystallins 1359 1993-01-14 2009-12-02 2015-11-12 2015-11-12 1424 ENSG00000223710 OTTHUMG00000058411 X52628 NG_001108 PGOHUM00000240041 HGNC:2414 +HGNC:20458 CRYGN crystallin gamma N protein-coding gene gene with protein product Approved 7q36.1 07q36.1 crystallin, gamma N "Beta-gamma crystallins|MicroRNA protein coding host genes" "1359|1691" 2003-02-25 2015-11-12 2015-11-12 155051 ENSG00000127377 OTTHUMG00000157353 uc003wke.4 AF445455 NM_001308292 "CCDS78289|CCDS5926" Q8WXF5 MGI:2449167 RGD:1308547 609603 HGNC:20458 "ENST00000337323.3|NM_144727.3" +HGNC:2417 CRYGS crystallin gamma S protein-coding gene gene with protein product Approved 3q27.3 03q27.3 crystallin, gamma 8 CRYG8 crystallin, gamma S Beta-gamma crystallins 1359 1989-05-25 2015-11-12 2021-05-26 1427 ENSG00000213139 OTTHUMG00000156615 uc031scs.2 NM_017541 CCDS3275 P22914 MGI:1298216 RGD:1587483 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CRYGS 123730 235204 HGNC:2417 "ENST00000307944.6|NM_017541.4" HGNC:2417 +HGNC:18246 CRYL1 crystallin lambda 1 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "GDH|lambda-CRY|MGC149525|MGC149526" "crystallin, lamda 1|L-gulonate 3-dehydrogenase|lambda-crystallin homolog" crystallin, lambda 1 MicroRNA protein coding host genes 1691 2002-02-22 2015-11-12 2016-10-05 51084 ENSG00000165475 OTTHUMG00000016516 uc001une.4 AF077049 NM_015974 "CCDS86344|CCDS41871" Q9Y2S2 12527201 MGI:1915881 RGD:631427 609877 HGNC:18246 "ENST00000298248.12|NM_015974.3" +HGNC:2418 CRYM crystallin mu protein-coding gene gene with protein product Approved 16p12.2 16p12.2 DFNA40 "thiomorpholine-carboxylate dehydrogenase|mu-crystallin" crystallin, mu 1992-11-26 2015-11-12 2021-09-22 1428 ENSG00000103316 OTTHUMG00000090707 uc002dim.4 NM_001376256 CCDS10597 Q14894 "1478656|21332720|1384048" MGI:102675 RGD:620943 123740 166809 1.5.1.25 HGNC:2418 "ENST00000572914.2|NM_001376256.1" HGNC:2418 +HGNC:34405 CRYM-AS1 CRYM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p12.2 16p12.2 FLJ41766 NCRNA00169 "non-protein coding RNA 169|CRYM antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-01-26 2011-08-11 2012-08-15 2014-11-19 400508 ENSG00000189149 OTTHUMG00000156701 uc010bwr.2 NR_026675 A6NIL9 CRYM-AS1 HGNC:34405 +HGNC:2419 CRYZ crystallin zeta protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "quinone oxidoreductase|NADPH:quinone reductase" crystallin, zeta (quinone reductase) 1994-07-13 2015-11-12 2021-05-25 1429 ENSG00000116791 OTTHUMG00000009620 uc001dgk.4 NM_001130042 "CCDS44163|CCDS44162|CCDS665" Q08257 MGI:88527 RGD:1311639 123691 1.6.5.5 HGNC:2419 "ENST00000340866.10|NM_001889.4" +HGNC:2420 CRYZL1 crystallin zeta like 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "QOH-1|4P11" quinone reductase-like 1 crystallin, zeta (quinone reductase)-like 1 1999-05-06 2015-11-12 2016-10-05 9946 ENSG00000205758 OTTHUMG00000065954 uc061zsg.1 AF029689 NM_145858 CCDS13633 O95825 10191096 MGI:1913859 RGD:1310219 603920 HGNC:2420 "ENST00000381554.8|NM_145858.3" +HGNC:52164 CRYZL2P crystallin zeta like 2, pseudogene pseudogene pseudogene Approved 1q25.2 01q25.2 2017-10-05 2017-10-05 730102 ENSG00000242193 OTTHUMG00000154878 NR_037167 MGI:2448516 HGNC:52164 +HGNC:53757 CRYZL2P-SEC16B CRYZL2P-SEC16B readthrough other readthrough Approved 1q25.2 01q25.2 2017-10-19 2017-10-19 111240474 ENSG00000254154 OTTHUMG00000035027 NM_001356505 MGI:2148802 HGNC:53757 +HGNC:2421 CRYZP1 crystallin zeta pseudogene 1 pseudogene pseudogene Approved 7q22.1 07q22.1 crystallin, zeta (quinone reductase) pseudogene 1 1994-07-26 2015-11-12 2015-11-12 1430 ENSG00000233025 OTTHUMG00000157207 L31527 NG_030014 8088825 PGOHUM00000232951 HGNC:2421 +HGNC:49203 CRYZP2 crystallin zeta pseudogene 2 pseudogene pseudogene Approved 4q23 04q23 crystallin, zeta (quinone reductase) pseudogene 2 2013-10-08 2015-11-12 2015-11-12 100526735 ENSG00000250293 OTTHUMG00000161185 NG_027880 PGOHUM00000250724 HGNC:49203 +HGNC:2422 CS citrate synthase protein-coding gene gene with protein product Approved 12q13.3 12q13.3 2001-06-22 2016-10-05 1431 ENSG00000062485 OTTHUMG00000170344 uc001sks.2 NM_004077 CCDS8913 O75390 MGI:88529 RGD:620330 118950 2.3.3.1 HGNC:2422 "ENST00000351328.8|NM_004077.3" +HGNC:18966 CSAD cysteine sulfinic acid decarboxylase protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "PCAP|CSD" P-selectin cytoplasmic tail-associated protein 2002-07-25 2016-10-05 51380 ENSG00000139631 OTTHUMG00000048076 uc010snx.3 AB044561 NM_015989 "CCDS58235|CCDS8848" Q9Y600 15489334 MGI:2180098 RGD:621030 616569 4.1.1.29 HGNC:18966 "ENST00000444623.6|NM_001244705.2" +HGNC:24294 CSAG1 chondrosarcoma associated gene 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "CSAGE|CT24.1" cancer/testis antigen family 24, member 1 CSAG family 1851 2004-07-15 2020-04-02 158511 ENSG00000198930 OTTHUMG00000022648 uc033fah.1 AF268419 NM_153479 CCDS76047 Q6PB30 12039054 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CSAG1 300944 HGNC:24294 "ENST00000452779.3|NM_001102576.3" +HGNC:16847 CSAG2 CSAG family member 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "TRAG3|CT24.2" cancer/testis antigen family 24, member 2 CSAG3B "CSAG family, member 3B|CSAG family, member 2" CSAG family 1851 2004-07-15 2015-11-18 2020-04-20 102723547 ENSG00000268902 OTTHUMG00000022641 AF080246 NM_001080848 Q9Y5P2 10095106 PGOHUM00000258444 HGNC:16847 +HGNC:26237 CSAG3 CSAG family member 3 protein-coding gene gene with protein product Approved Xq28 Xq28 CSAG3A "CSAG family, member 3A|CSAG family, member 3" CSAG family 1851 2005-06-01 2008-03-11 2015-11-18 2019-03-06 389903 ENSG00000268916 OTTHUMG00000188381 BC007228 NM_203311 Q9Y5P2 PGOHUM00000305395 HGNC:26237 +HGNC:20923 CSAG4 CSAG family member 4 (pseudogene) pseudogene pseudogene Approved Xq28 Xq28 "CSAG family, member 4|CSAG family, member 4 (pseudogene)" CSAG family 1851 2005-06-30 2015-11-18 2020-04-20 100130935 ENSG00000242599 OTTHUMG00000022646 BC013171 NR_073432 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CSAG4 PGOHUM00000241603 HGNC:20923 +HGNC:30359 CSDC2 cold shock domain containing C2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 PIPPin cold shock domain containing C2, RNA binding 2005-08-22 2016-02-29 2016-02-29 27254 ENSG00000172346 OTTHUMG00000150967 uc003bak.2 AL834417 NM_014460 CCDS14019 Q9Y534 "8573167|12767259" MGI:2146027 RGD:628780 617689 HGNC:30359 "ENST00000306149.12|NM_014460.4" +HGNC:29905 CSDE1 cold shock domain containing E1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "D1S155E|UNR" upstream of NRAS cold shock domain containing E1, RNA binding 2005-07-26 2016-02-29 2016-02-29 7812 ENSG00000009307 OTTHUMG00000012060 uc001efk.4 NM_007158 "CCDS30811|CCDS55626|CCDS30812|CCDS44197" O75534 "2204029|10048485" MGI:92356 RGD:619726 191510 470138 HGNC:29905 "ENST00000358528.9|NM_001007553.3" +HGNC:2431 CSE1L chromosome segregation 1 like protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "CAS|XPO2|CSE1" cellular apoptosis susceptibility "chromosome segregation 1 (yeast homolog)-like|CSE1 chromosome segregation 1-like (yeast)|CSE1 chromosome segregation 1 like" Exportins 547 1998-05-05 2016-04-25 2016-10-31 1434 ENSG00000124207 OTTHUMG00000033046 uc002xty.5 U33286 NM_001316 "CCDS13412|CCDS58773" P55060 "8963895|7479798" MGI:1339951 RGD:1307536 601342 HGNC:2431 "ENST00000262982.3|NM_001316.4" +HGNC:51232 CSE1L-DT CSE1L divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 CSE1L-AS1 CSE1L antisense RNA 1 Divergent transcripts 1990 2014-08-08 2021-07-30 2021-07-30 2021-07-30 102723483 ENSG00000227431 OTTHUMG00000032688 NR_110624 CSE1L-AS1 HGNC:51232 +HGNC:2432 CSF1 colony stimulating factor 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "M-CSF|MCSF|MGC31930" macrophage colony stimulating factor 1 colony stimulating factor 1 (macrophage) 1986-01-01 2016-01-14 2016-01-14 1435 ENSG00000184371 OTTHUMG00000011646 uc001dyw.5 BC021117 NM_000757 "CCDS30797|CCDS816|CCDS817" P09603 1540160 MGI:1339753 RGD:621063 120420 ligandId:4905 HGNC:2432 "ENST00000329608.11|NM_000757.6" +HGNC:2433 CSF1R colony stimulating factor 1 receptor protein-coding gene gene with protein product Approved 5q32 05q32 "C-FMS|CSFR|CD115" FMS McDonough feline sarcoma viral (v-fms) oncogene homolog "Receptor tyrosine kinases|CD molecules|Immunoglobulin like domain containing" "321|471|594" 2001-06-22 2008-08-01 2015-09-11 1436 ENSG00000182578 OTTHUMG00000130050 uc003lrm.3 U63963 NM_005211 CCDS4302 P07333 1611909 MGI:1339758 RGD:2425 164770 317674 objectId:1806 CD115 HGNC:2433 "ENST00000675795.1|NM_001288705.3" HGNC:2433 +HGNC:2434 CSF2 colony stimulating factor 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "GM-CSF|GMCSF" "sargramostim|molgramostim|granulocyte-macrophage colony stimulating factor" colony stimulating factor 2 (granulocyte-macrophage) 2001-06-22 2016-01-14 2018-12-12 1437 ENSG00000164400 OTTHUMG00000059637 uc003kwf.5 M11734 NM_000758 CCDS4150 P04141 "3898082|2999978" MGI:1339752 RGD:621065 138960 ligandId:4942 HGNC:2434 "ENST00000296871.4|NM_000758.4" +HGNC:2435 CSF2RA colony stimulating factor 2 receptor subunit alpha protein-coding gene gene with protein product Approved Xp22.32 and Yp11.3 Xp22.32 and Yp11.3 "CD116|alphaGMR" alpha-GM-CSF receptor CSF2R colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) "CD molecules|Pseudoautosomal region 1" "471|715" 1990-07-03 2019-11-26 2021-04-13 1438 ENSG00000198223 OTTHUMG00000012533 uc010nvv.3 M64445 NM_001161529 "CCDS55361|CCDS35193|CCDS35192|CCDS55360|CCDS35191|CCDS35190|CCDS55359" P15509 1702217 MGI:1339754 RGD:1594330 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CSF2RA|LRG_186|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_186.xml" "306250|425000" 209477 objectId:1707 CD116 HGNC:2435 "ENST00000381529.9|NM_172245.4" HGNC:2435 +HGNC:2436 CSF2RB colony stimulating factor 2 receptor subunit beta protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "IL5RB|CD131|betaGMR" "beta common cytokine receptor|beta-GM-CSF receptor" IL3RB "colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)|colony stimulating factor 2 receptor beta common subunit" "CD molecules|Fibronectin type III domain containing" "471|555" 1991-08-07 2019-11-26 2019-11-26 1439 ENSG00000100368 OTTHUMG00000150546 uc003aqa.5 M59941 NM_000395 CCDS13936 P32927 "1833064|1424804" "MGI:1339759|MGI:1339760" RGD:620189 138981 120855 objectId:2306 CD131 HGNC:2436 "ENST00000403662.8|NM_000395.3" HGNC:2436 +HGNC:2437 CSF2RBP1 CSF2RB pseudogene 1 pseudogene pseudogene Approved 22q12.3 22q12.3 CSF2RB2 "colony stimulating factor 2 receptor, beta, 2|colony stimulating factor 2 receptor, beta, 2 pseudogene|colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) pseudogene 1|colony stimulating factor 2 receptor beta common subunit pseudogene 1" 1999-10-29 2011-04-28 2019-11-26 2019-11-26 23772 ENSG00000232254 OTTHUMG00000150535 NG_002638 10591208 HGNC:2437 +HGNC:2438 CSF3 colony stimulating factor 3 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 MGC45931 "granulocyte colony stimulating factor|pluripoietin|filgrastim|lenograstim" "GCSF|G-CSF|C17orf33" "chromosome 17 open reading frame 33|colony stimulating factor 3 (granulocyte)" Receptor ligands 542 2001-06-22 2015-11-06 2016-10-05 1440 ENSG00000108342 OTTHUMG00000133247 uc002htp.4 NM_172220 "CCDS42314|CCDS11357|CCDS11358" P09919 "3499671|3501046" MGI:1339751 RGD:2426 138970 ligandId:4934 HGNC:2438 "ENST00000394149.8|NM_172219.3" +HGNC:2439 CSF3R colony stimulating factor 3 receptor protein-coding gene gene with protein product Approved 1p34.3 01p34.3 GCSFR CD114 colony stimulating factor 3 receptor (granulocyte) "CD molecules|Fibronectin type III domain containing" "471|555" 1990-12-10 2015-11-06 2021-04-13 1441 ENSG00000119535 OTTHUMG00000008010 uc001caw.3 M59820 NM_156039 "CCDS413|CCDS414|CCDS412" Q99062 1371413 MGI:1339755 RGD:1309114 LRG_144|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_144.xml CSF3R 138971 159476 objectId:1719 CD114 HGNC:2439 "ENST00000373106.6|NM_000760.4" HGNC:2439 +HGNC:24290 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "CSGalNAcT-1|FLJ11264|ChGn" "chondroitin beta1,4 N-acetylgalactosaminyltransferase|glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase" Beta 4-glycosyltransferases 425 2008-02-26 2021-05-26 55790 ENSG00000147408 OTTHUMG00000130827 uc011kyo.2 AK002126 NM_018371 CCDS6010 Q8TDX6 "17145758|12446672" MGI:2442354 RGD:1307618 616615 2.4.1.174 HGNC:24290 HGNC:24290 +HGNC:24292 CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "GALNACT2|MGC40204|PRO0082|GALNACT-2" "chondroitin beta1,4 N-acetylgalactosaminyltransferase 2|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase 2" Beta 4-glycosyltransferases 425 2008-02-26 2015-12-04 55454 ENSG00000169826 OTTHUMG00000018023 uc001jan.5 AF116646 NM_018590 CCDS7201 Q8N6G5 12446672 MGI:1926002 RGD:1563660 616616 2.4.1.174 HGNC:24292 "ENST00000374466.4|NM_018590.5" +HGNC:55174 CSGALNACT2-DT CSGALNACT2 divergent transcript non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 Divergent transcripts 1990 2020-08-06 2020-08-06 118568825 ENSG00000273008 XR_007062126 +HGNC:55033 CSGALNACT2P1 CSGALNACT2 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-05-28 2020-05-28 286453 ENSG00000182574 NG_021119 +HGNC:55034 CSGALNACT2P2 CSGALNACT2 pseudogene 2 pseudogene pseudogene Approved Xq22.3 Xq22.3 2020-05-28 2020-05-28 107178920 ENSG00000256709 NG_046710 +HGNC:2440 CSH1 chorionic somatomammotropin hormone 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "hCS-A|CSA|PL|CSMT|FLJ75407" "chorionic somatomammotropin A|placental lactogen|choriomammotropin" Growth hormone family 1175 1986-01-01 2016-01-12 2016-01-15 1442 ENSG00000136488 OTTHUMG00000171947 uc002jcs.3 J00118 NM_001317 CCDS11649 P0DML2 6208192 MGI:95707 150200 ligandId:4893 HGNC:2440 "ENST00000316193.13|NM_001317.6" +HGNC:2441 CSH2 chorionic somatomammotropin hormone 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "hCS-B|CSB|CS-2" "placental lactogen|chorionic somatomammotropin B" Growth hormone family 1175 2001-06-22 2019-08-21 1443 ENSG00000213218 OTTHUMG00000172283 uc002jch.4 V00573 NM_020991 "CCDS42368|CCDS42369|CCDS11646" P0DML3 "593368|6208192" MGI:95707 118820 ligandId:4893 HGNC:2441 "ENST00000392886.7|NM_020991.4" +HGNC:2442 CSHL1 chorionic somatomammotropin hormone like 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "hCS-L|CSL|CS-5|MGC149868" chorionic somatomammotropin CS-5 CSHP1 Growth hormone family 1175 2001-06-22 2016-01-12 2016-01-12 1444 ENSG00000204414 OTTHUMG00000172287 uc002jda.2 BC029365 NM_022579 "CCDS45759|CCDS82189|CCDS11652|CCDS42370" Q14406 8083227 MGI:95707 603515 ligandId:4894 HGNC:2442 "ENST00000309894.6|NM_022579.3" +HGNC:2444 CSK C-terminal Src kinase protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "c-src tyrosine kinase|CSK, non-receptor tyrosine kinase" "SH2 domain containing|Csk family tyrosine kinases" "741|1460" 1992-03-20 2017-05-12 2017-05-12 1445 ENSG00000103653 OTTHUMG00000142814 uc002ays.3 NM_004383 CCDS10269 P41240 1377109 MGI:88537 RGD:1308800 124095 objectId:1994 2.7.10.1 HGNC:2444 "ENST00000220003.14|NM_004383.3" +HGNC:33113 CSKMT citrate synthase lysine methyltransferase protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "U99HG|CS-KMT" METTL12 methyltransferase like 12 "Small nucleolar RNA protein coding host genes|7BS protein lysine methyltransferases" "1835|2056" 2009-02-23 2017-10-09 2017-10-09 2021-09-10 751071 ENSG00000214756 OTTHUMG00000167545 uc001nug.2 BC041359 NM_001043229 CCDS41657 A8MUP2 "28391595|28887308" 617897 HGNC:33113 "ENST00000532971.2|NM_001043229.2" +HGNC:14026 CSMD1 CUB and Sushi multiple domains 1 protein-coding gene gene with protein product Approved 8p23.2 08p23.2 "KIAA1890|PPP1R24" protein phosphatase 1, regulatory subunit 24 "Protein phosphatase 1 regulatory subunits|Sushi domain containing|Complement system regulators and receptors" "694|1179|1639" 2000-12-21 2015-08-28 64478 ENSG00000183117 OTTHUMG00000163605 uc064jzp.1 NM_033225 CCDS55189 Q96PZ7 MGI:2137383 RGD:1305103 608397 HGNC:14026 "ENST00000635120.2|NM_033225.6" HGNC:14026 +HGNC:19290 CSMD2 CUB and Sushi multiple domains 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 KIAA1884 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2002-11-26 2016-10-05 114784 ENSG00000121904 OTTHUMG00000011135 uc001bxm.2 AY210418 NM_052896 "CCDS380|CCDS60082" Q7Z408 "11472063|11572484" MGI:2386401 RGD:1565728 608398 HGNC:19290 "ENST00000373381.9|NM_001281956.2" +HGNC:40882 CSMD2-AS1 CSMD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p35.1 01p35.1 ENST00000434181 Antisense RNAs 1987 2014-05-21 2017-02-16 402779 ENSG00000231163 OTTHUMG00000013025 NR_038372 27816668 CSMD2-AS1 HGNC:40882 +HGNC:19291 CSMD3 CUB and Sushi multiple domains 3 protein-coding gene gene with protein product Approved 8q23.3 08q23.3 "Sushi domain containing|Complement system regulators and receptors" "1179|1639" 2003-01-14 2015-09-11 114788 ENSG00000164796 OTTHUMG00000157027 uc003ynu.4 AY210419 NM_052900 "CCDS6315|CCDS6317|CCDS6316" Q7Z407 MGI:2386403 RGD:1594530 608399 HGNC:19291 "ENST00000297405.10|NM_198123.2" +HGNC:2445 CSN1S1 casein alpha s1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "CASA|CSN1" casein, alpha 1987-09-11 2003-01-31 2003-01-24 2016-10-05 1446 ENSG00000126545 OTTHUMG00000160843 uc003hep.2 X78416 NM_001025104 "CCDS47067|CCDS54769" P47710 "9050925|7619062" MGI:88540 RGD:2430 115450 HGNC:2445 "ENST00000246891.9|NM_001890.2" +HGNC:20230 CSN1S2AP casein alpha s2 like A, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 CSN1S2A casein alpha s2-like A 2003-01-15 2010-10-28 2019-02-18 2019-02-18 286828 ENSG00000234124 OTTHUMG00000160842 AY154892 XM_379270 13679022 MGI:88542 HGNC:20230 +HGNC:20227 CSN1S2BP casein alpha s2 like B, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 CSN1S2B casein alpha s2-like B 2003-01-15 2010-10-28 2019-02-18 2020-04-20 100337616 AW104440 NR_033311.1 13679022 MGI:105312 HGNC:20227 +HGNC:2447 CSN2 casein beta protein-coding gene gene with protein product Approved 4q13.3 04q13.3 CASB 1987-09-11 2016-10-05 1447 ENSG00000135222 OTTHUMG00000129409 uc003hes.5 X17070 NM_001302770 CCDS3532 P05814 1577486 MGI:88541 RGD:61981 115460 HGNC:2447 "ENST00000353151.4|NM_001891.4" +HGNC:2446 CSN3 casein kappa protein-coding gene gene with protein product Approved 4q13.3 04q13.3 CSN10 casein, kappa 1997-04-21 2003-01-31 2003-01-24 2016-10-05 1448 ENSG00000171209 OTTHUMG00000129399 uc003hfe.5 U51899 NM_005212 CCDS3538 P07498 "8863730|9050925" MGI:107461 RGD:61990 601695 HGNC:2446 +HGNC:2451 CSNK1A1 casein kinase 1 alpha 1 protein-coding gene gene with protein product Approved 5q32 05q32 "CK1|CK1a|CK1alpha|CKIa|CKIalpha" clock regulator kinase casein kinase 1, alpha 1 casein kinase 1 family 1330 1994-12-13 2016-01-21 2017-05-26 1452 ENSG00000113712 OTTHUMG00000163463 uc003lqw.3 AF119911 NM_001892 "CCDS47303|CCDS47304|CCDS64291" P48729 8050587 MGI:1934950 RGD:71098 600505 objectId:1995 HGNC:2451 "ENST00000377843.8|NM_001892.6" +HGNC:20289 CSNK1A1L casein kinase 1 alpha 1 like protein-coding gene gene with protein product Approved 13q13.3 13q13.3 MGC33182 casein kinase 1, alpha 1-like casein kinase 1 family 1330 2004-04-16 2016-01-21 2020-03-10 122011 ENSG00000180138 OTTHUMG00000016748 uc001uwm.2 BC028723 NM_145203 CCDS9363 Q8N752 MGI:1934950 objectId:1996 2.7.11.1 HGNC:20289 "ENST00000379800.4|NM_145203.6" +HGNC:30446 CSNK1A1P1 casein kinase 1 alpha 1 pseudogene 1 pseudogene pseudogene Approved 15q14 15q14 CSNK1A1P "casein kinase 1, alpha 1 pseudogene|casein kinase 1, alpha 1 pseudogene 1" 2009-03-11 2010-07-20 2016-01-21 2016-10-05 161635 ENSG00000223518 OTTHUMG00000172664 BC028192 NR_027320 PGOHUM00000251178 HGNC:30446 +HGNC:30445 CSNK1A1P2 casein kinase 1 alpha 1 pseudogene 2 pseudogene pseudogene Approved 11q22.2 11q22.2 casein kinase 1, alpha 1 pseudogene 2 2010-07-20 2016-01-21 2016-01-21 120321 NG_001532 HGNC:30445 +HGNC:38669 CSNK1A1P3 casein kinase 1 alpha 1 pseudogene 3 pseudogene pseudogene Approved 5q15 05q15 casein kinase 1, alpha 1 pseudogene 3 2010-07-20 2016-01-21 2016-01-21 100526776 ENSG00000250162 OTTHUMG00000162747 NG_027923 PGOHUM00000235710 HGNC:38669 +HGNC:2452 CSNK1D casein kinase 1 delta protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "HCKID|CKID|CKIdelta" casein kinase 1, delta casein kinase 1 family 1330 1995-09-27 2016-01-21 2016-10-05 1453 ENSG00000141551 OTTHUMG00000178601 uc002kej.4 NM_139062 "CCDS86654|CCDS11806|CCDS11805" P48730 7797465 MGI:1355272 RGD:71031 600864 165845 objectId:1997 HGNC:2452 "ENST00000314028.11|NM_001893.6" HGNC:2452 +HGNC:2453 CSNK1E casein kinase 1 epsilon protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "HCKIE|CKIE|CKIepsilon" casein kinase 1, epsilon casein kinase 1 family 1330 1995-09-27 2016-01-21 2016-01-21 1454 ENSG00000213923 OTTHUMG00000151135 uc003avm.3 NM_001894 CCDS13970 P49674 "7797465|10535959" MGI:1351660 RGD:62045 600863 objectId:1998 HGNC:2453 "ENST00000396832.6|NM_152221.3" HGNC:2453 +HGNC:2454 CSNK1G1 casein kinase 1 gamma 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 CK1gamma1 casein kinase 1, gamma 1 casein kinase 1 family 1330 2000-05-31 2016-01-21 2016-10-05 53944 ENSG00000169118 OTTHUMG00000133019 uc002anf.5 AB042562 NM_022048 "CCDS86464|CCDS86465|CCDS10192" Q9HCP0 11124537 MGI:2660884 RGD:621404 606274 objectId:1999 HGNC:2454 "ENST00000303052.13|NM_022048.5" HGNC:2454 +HGNC:2455 CSNK1G2 casein kinase 1 gamma 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 CK1g2 casein kinase 1, gamma 2 casein kinase 1 family 1330 1997-07-01 2016-01-21 2016-01-21 1455 ENSG00000133275 OTTHUMG00000180016 uc002lul.5 AF001177 NM_001319 CCDS12077 P78368 9403068 MGI:1920014 RGD:621407 602214 objectId:2000 HGNC:2455 "ENST00000255641.13|NM_001319.7" +HGNC:28604 CSNK1G2-AS1 CSNK1G2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 MGC39696 C19orf34 "chromosome 19 open reading frame 34|CSNK1G2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-07-30 2011-11-24 2012-08-15 2012-10-12 255193 ENSG00000180846 OTTHUMG00000179999 uc060rgh.1 BC029585 NR_033400 Q8NCQ2 12477932 CSNK1G2-AS1 HGNC:28604 +HGNC:49739 CSNK1G2P1 casein kinase 1 gamma 2 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 casein kinase 1, gamma 2 pseudogene 1 2014-02-13 2016-01-21 2016-01-21 100419821 ENSG00000234534 OTTHUMG00000019483 NG_023867 PGOHUM00000236358 HGNC:49739 +HGNC:2456 CSNK1G3 casein kinase 1 gamma 3 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 casein kinase 1, gamma 3 casein kinase 1 family 1330 1998-08-25 2016-01-21 2016-10-05 1456 ENSG00000151292 OTTHUMG00000128923 uc031skw.2 AF049090 NM_004384 "CCDS4135|CCDS59493|CCDS43355|CCDS34218|CCDS59491|CCDS59492" Q9Y6M4 9925945 MGI:1917675 RGD:621408 604253 objectId:2001 HGNC:2456 HGNC:2456 +HGNC:2457 CSNK2A1 casein kinase 2 alpha 1 protein-coding gene gene with protein product Approved 20p13 20p13 "Cka1|Cka2" Casein kinase II subunit alpha casein kinase 2, alpha 1 polypeptide 1992-02-13 2016-01-21 2018-04-23 1457 ENSG00000101266 OTTHUMG00000031636 uc002wdx.2 M55265 NM_001895 "CCDS13004|CCDS13003" P68400 "2174700|1766873" MGI:88543 RGD:621663 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=CSNK2A1 115440 470140 objectId:1549 HGNC:2457 "ENST00000217244.9|NM_177559.3" HGNC:2457 +HGNC:2459 CSNK2A2 casein kinase 2 alpha 2 protein-coding gene gene with protein product Approved 16q21 16q21 "CSNK2A1|CK2alpha'" casein kinase 2 alpha' casein kinase 2, alpha prime polypeptide 1992-02-13 2016-01-21 2016-01-21 1459 ENSG00000070770 OTTHUMG00000133488 uc002enc.4 M55268 NM_001896 CCDS10794 P19784 "2174700|1766873" MGI:88547 RGD:1306882 115442 470142 objectId:1550 HGNC:2459 "ENST00000262506.8|NM_001896.4" +HGNC:2458 CSNK2A3 casein kinase 2 alpha 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 CSNK2A1P "casein kinase 2, alpha 1 polypeptide pseudogene|casein kinase 2, alpha 3 polypeptide" 1992-11-25 2013-01-17 2016-01-21 2016-10-05 283106 ENSG00000254598 OTTHUMG00000165708 uc001mjp.4 X64692 NM_001256686 CCDS59224 Q8NEV1 "12102635|1610905|20625391" HGNC:2458 "ENST00000528848.3|NM_001256686.2" +HGNC:2460 CSNK2B casein kinase 2 beta protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "Ckb1|Ckb2" casein kinase 2, beta polypeptide 1990-05-23 2016-01-21 2017-05-26 1460 ENSG00000204435 OTTHUMG00000177888 uc003nvr.3 M30448 NM_001320 CCDS4712 P67870 "2276748|9503014" MGI:88548 RGD:619978 115441 objectId:1551 2.7.11.1 HGNC:2460 "ENST00000375882.7|NM_001320.7" HGNC:2460 +HGNC:53637 CSNKA2IP casein kinase 2 subunit alpha' interacting protein protein-coding gene gene with protein product Approved 3p11.1 03p11.1 casein kinase 2 alpha prime interacting protein 2017-08-09 2017-11-29 111064647 ENSG00000283434 OTTHUMG00000191768 NM_001368165 A0A1B0GTH6 MGI:2676295 RGD:1562102 HGNC:53637 "ENST00000637986.2|NM_001368165.1" +HGNC:54777 CSP1 CS pseudogene 1 pseudogene pseudogene Approved 2p15 02p15 2020-01-08 2020-01-21 100418973 ENSG00000228872 NG_023692 +HGNC:54779 CSP2 CS pseudogene 2 pseudogene pseudogene Approved 3q13.12 03q13.12 2020-01-08 2020-01-21 649024 ENSG00000241218 NG_022214 +HGNC:54780 CSP3 CS pseudogene 3 pseudogene pseudogene Approved 19p13.11 19p13.11 2020-01-08 2020-01-08 440514 NG_005325 +HGNC:2466 CSPG4 chondroitin sulfate proteoglycan 4 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "MCSPG|MEL-CSPG|MSK16|NG2|MCSP|HMW-MAA|CSPG4A" melanoma-associated chondroitin sulfate proteoglycan chondroitin sulfate proteoglycan 4 (melanoma-associated) Proteoglycans 570 1997-11-28 2007-02-16 2020-04-03 1464 ENSG00000173546 OTTHUMG00000142836 uc002baw.3 "X96753|AY359468" NM_001897 CCDS10284 Q6UVK1 "8790396|16407841" MGI:2153093 RGD:619942 601172 HGNC:2466 "ENST00000308508.5|NM_001897.5" HGNC:2466 +HGNC:51505 CSPG4BP chondroitin sulfate proteoglycan family member 4B, pseudogene pseudogene pseudogene Approved 5q11.2 05q11.2 2020-04-02 2020-04-02 727930 ENSG00000232517 OTTHUMG00000154831 NG_028714 MGI:3040697 PGOHUM00000300583 +HGNC:16478 CSPG4P1Y CSPG4 pseudogene 1 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "CSPG4LYP1|CSPG4P1" "chondroitin sulfate proteoglycan 4-like, Y-linked pseudogene 1|chondroitin sulfate proteoglycan 4 pseudogene 1|chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked" 2001-09-21 2010-06-28 2018-04-26 2018-04-26 114758 ENSG00000240450 OTTHUMG00000045282 uc004fxc.2 AF332228 NR_001554 400034 HGNC:16478 +HGNC:32424 CSPG4P2Y CSPG4 pseudogene 2 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 melanoma associated chondroitin sulfate proteoglycan like "CSPG4LYP2|CSPG4P2" "chondroitin sulfate proteoglycan 4-like, Y-linked pseudogene 2|chondroitin sulfate proteoglycan 4 pseudogene 2|chondroitin sulfate proteoglycan 4 pseudogene 2, Y-linked" 2005-12-16 2010-06-28 2018-04-26 2018-04-26 84664 ENSG00000244231 OTTHUMG00000045073 uc004fwc.2 NR_002194 12815422 HGNC:32424 +HGNC:38111 CSPG4P3Y CSPG4 pseudogene 3 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "CSPG4P3|CSPG4P6Y" "chondroitin sulfate proteoglycan 4 pseudogene 3|chondroitin sulfate proteoglycan 4 pseudogene 6, Y-linked|chondroitin sulfate proteoglycan 4 pseudogene 3, Y-linked" 2010-04-19 2010-06-30 2018-04-26 2018-04-26 100287261 ENSG00000172342 OTTHUMG00000045077 NG_022958 PGOHUM00000233840 HGNC:38111 +HGNC:38535 CSPG4P4Y CSPG4 pseudogene 4 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "CSPG4P4|CSPG4P7Y" "chondroitin sulfate proteoglycan 4 pseudogene 4|chondroitin sulfate proteoglycan 4 pseudogene 7, Y-linked|chondroitin sulfate proteoglycan 4 pseudogene 4, Y-linked" 2010-06-08 2010-06-30 2018-04-26 2018-04-26 100287502 ENSG00000172294 OTTHUMG00000045284 NG_022953 PGOHUM00000234082 HGNC:38535 +HGNC:29403 CSPG4P5 chondroitin sulfate proteoglycan 4 pseudogene 5 pseudogene pseudogene Approved 15q25.2 15q25.2 2010-06-30 2015-02-02 114817 ENSG00000272887 OTTHUMG00000172439 AB067507 NG_068469 11572484 PGOHUM00000246902 HGNC:29403 +HGNC:48360 CSPG4P9 chondroitin sulfate proteoglycan 4 pseudogene 9 pseudogene pseudogene Approved 15q25.2 alternate reference locus 15q25.2 alternate reference locus 2013-05-10 2015-02-09 642288 PGOHUM00000262070 +HGNC:48361 CSPG4P10 chondroitin sulfate proteoglycan 4 pseudogene 10 pseudogene pseudogene Approved 15q25.2 15q25.2 2013-05-10 2015-07-31 390627 ENSG00000276710 OTTHUMG00000170548 NG_022135 PGOHUM00000293318 HGNC:48361 +HGNC:48363 CSPG4P11 chondroitin sulfate proteoglycan 4 pseudogene 11 pseudogene pseudogene Approved 15q25.2 15q25.2 2013-05-10 2013-05-10 100631254 ENSG00000259726 OTTHUMG00000172497 NG_029302 PGOHUM00000247233 HGNC:48363 +HGNC:48362 CSPG4P12 chondroitin sulfate proteoglycan 4 pseudogene 12 pseudogene pseudogene Approved 15q25.3 15q25.3 2013-05-10 2015-02-02 728121 ENSG00000259295 OTTHUMG00000172141 NG_022136 PGOHUM00000293340 HGNC:48362 +HGNC:49195 CSPG4P13 chondroitin sulfate proteoglycan 4 pseudogene 13 pseudogene pseudogene Approved 15q24.3 15q24.3 2013-09-26 2013-09-26 100302666 ENSG00000260139 OTTHUMG00000172978 NG_012725 PGOHUM00000247189 HGNC:49195 +HGNC:2467 CSPG5 chondroitin sulfate proteoglycan 5 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 NGC neuroglycan C chondroitin sulfate proteoglycan 5 (neuroglycan C) 1999-07-23 2015-12-16 2016-10-05 10675 ENSG00000114646 OTTHUMG00000133518 uc003crp.5 AF059274 NM_006574 "CCDS2757|CCDS56253|CCDS74930|CCDS56252" O95196 9950058 MGI:1352747 RGD:2431 606775 HGNC:2467 "ENST00000264723.9|NM_006574.4" +HGNC:26193 CSPP1 centrosome and spindle pole associated protein 1 protein-coding gene gene with protein product Approved 8q13.1-q13.2 08q13.1-q13.2 "FLJ22490|CSPP|JBTS21|CSPP-L" 2005-09-06 2021-05-26 79848 ENSG00000104218 OTTHUMG00000164564 uc003xxj.4 AJ583433 NM_024790 "CCDS43744|CCDS78344" Q1MSJ5 "15580290|24360807" MGI:2681832 RGD:1307055 611654 390741 HGNC:26193 "ENST00000678616.1|NM_001382391.1" HGNC:26193 +HGNC:14300 CSRNP1 cysteine and serine rich nuclear protein 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "URAX1|DKFZp566F164|FAM130B|TAIP-3" AXUD1 "AXIN1 up-regulated 1|cysteine-serine-rich nuclear protein 1" 2001-01-03 2009-04-17 2016-03-08 2016-10-05 64651 ENSG00000144655 OTTHUMG00000131293 uc003cjh.4 AB053121 NM_033027 CCDS2682 Q96S65 "11526492|17726538" MGI:2387989 RGD:1305999 606458 HGNC:14300 "ENST00000273153.10|NM_033027.4" +HGNC:16006 CSRNP2 cysteine and serine rich nuclear protein 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "C12ORF2|TAIP-12|PPP1R72" protein phosphatase 1, regulatory subunit 72 "C12orf22|FAM130A1" "chromosome 12 open reading frame 22|family with sequence similarity 130, member A1|cysteine-serine-rich nuclear protein 2" Protein phosphatase 1 regulatory subunits 694 2001-06-28 2009-01-07 2016-03-08 2016-03-08 81566 ENSG00000110925 OTTHUMG00000169578 uc001rxu.3 AJ298133 NM_030809 CCDS8807 Q9H175 17726538 MGI:2386852 RGD:1308916 HGNC:16006 "ENST00000228515.6|NM_030809.3" +HGNC:30729 CSRNP3 cysteine and serine rich nuclear protein 3 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "FLJ32093|TAIP-2|PPP1R73" "TGF beta induced apotosis protein 2|protein phosphatase 1, regulatory subunit 73" FAM130A2 "family with sequence similarity 130, member A2|cysteine-serine-rich nuclear protein 3" Protein phosphatase 1 regulatory subunits 694 2007-01-19 2009-01-07 2016-03-08 2016-03-08 80034 ENSG00000178662 OTTHUMG00000132145 uc002udf.3 AB063300 NM_024969 CCDS2225 Q8WYN3 17726538 MGI:1925021 RGD:1306214 HGNC:30729 "ENST00000651982.1|NM_001172173.2" +HGNC:2469 CSRP1 cysteine and glycine rich protein 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "CSRP|D1S181E" CYRP LIM domain containing 1218 1992-06-26 2015-11-23 2016-10-05 1465 ENSG00000159176 OTTHUMG00000035773 uc001gws.4 M33146 NM_004078 CCDS1413 P21291 "2115670|9925910" MGI:88549 RGD:62053 123876 HGNC:2469 "ENST00000340006.7|NM_004078.3" +HGNC:55856 CSRP1-AS1 CSRP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2021-09-03 2021-09-03 107985246 ENSG00000224536 NR_160746 +HGNC:2470 CSRP2 cysteine and glycine rich protein 2 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "SmLIM|CRP2|LMO5" LIM domain containing 1218 1997-06-18 2015-11-23 2016-10-05 1466 ENSG00000175183 OTTHUMG00000169919 uc001syl.2 BC000992 NM_001321 CCDS9015 Q16527 "7499425|9286703" MGI:1202907 RGD:61950 601871 HGNC:2470 "ENST00000311083.10|NM_001321.3" +HGNC:2471 CSRP2P1 cysteine and glycine rich protein 2 pseudogene 1 pseudogene pseudogene Approved 3q13.33 03q13.33 CSRP2P cysteine and glycine rich protein 2 pseudogene 1997-06-18 2015-11-23 2015-11-23 2015-11-23 1467 U72535 NG_000852 9286703 PGOHUM00000299144 HGNC:2471 +HGNC:2472 CSRP3 cysteine and glycine rich protein 3 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "CLP|MLP|CMD1M" "cardiac LIM protein|muscle LIM protein" LIM domain containing 1218 1999-07-21 2015-11-23 2021-04-13 8048 ENSG00000129170 OTTHUMG00000166100 uc001mpk.4 U20324 NM_003476 CCDS7848 P50461 7490106 MGI:1330824 RGD:71092 LRG_440|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_440.xml 600824 120860 HGNC:2472 "ENST00000265968.9|NM_003476.5" HGNC:2472 +HGNC:54183 CSRP3-AS1 CSRP3 and E2F8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 Antisense RNAs 1987 2019-02-21 2019-02-21 105376580 ENSG00000255308 XR_007062612 HGNC:54183 +HGNC:2473 CST1 cystatin SN protein-coding gene gene with protein product Approved 20p11.21 20p11.21 Cystatins, type 2 965 1990-02-06 2016-10-05 1469 ENSG00000170373 OTTHUMG00000032085 uc061vvz.1 M19169 NM_001898 CCDS13160 P01037 "MGI:102519|MGI:1930004" 123855 I25.010 HGNC:2473 "ENST00000304749.7|NM_001898.3" HGNC:2473 +HGNC:2474 CST2 cystatin SA protein-coding gene gene with protein product Approved 20p11.21 20p11.21 cystatin 2 Cystatins, type 2 965 1990-02-06 2016-10-05 1470 ENSG00000170369 OTTHUMG00000032086 uc002wtq.2 M19671 NM_001322 CCDS13161 P09228 "MGI:102519|MGI:1930004" 123856 I25.009 HGNC:2474 "ENST00000304725.3|NM_001322.3" +HGNC:45042 CST2P1 cystatin SA pseudogene 1 pseudogene pseudogene Approved 20p11.21 20p11.21 2013-01-25 2013-05-07 101410546 ENSG00000232595 OTTHUMG00000032084 NG_033231 HGNC:45042 +HGNC:2475 CST3 cystatin C protein-coding gene gene with protein product Approved 20p11.21 20p11.21 cystatin C (amyloid angiopathy and cerebral hemorrhage) Cystatins, type 2 965 1990-02-06 2008-04-15 2016-10-05 1471 ENSG00000101439 OTTHUMG00000032080 uc002wtm.5 NM_000099 CCDS13158 P01034 8486384 MGI:102519 RGD:2432 604312 120865 I25.004 HGNC:2475 "ENST00000376925.8|NM_000099.4" HGNC:2475 +HGNC:2476 CST4 cystatin S protein-coding gene gene with protein product Approved 20p11.21 20p11.21 Cystatins, type 2 965 1993-01-20 2016-10-05 1472 ENSG00000101441 OTTHUMG00000032083 uc002wto.2 NM_001899 CCDS13159 P01036 1801729 "MGI:102519|MGI:1930004" 123857 I25.008 HGNC:2476 "ENST00000217423.4|NM_001899.3" +HGNC:2477 CST5 cystatin D protein-coding gene gene with protein product Approved 20p11.21 20p11.21 Cystatins, type 2 965 1993-01-20 2015-09-03 1473 ENSG00000170367 OTTHUMG00000032089 uc002wtr.2 NM_001900 CCDS13162 P28325 1939105 "MGI:102519|MGI:1930004" RGD:1310978 123858 I25.005 HGNC:2477 "ENST00000304710.5|NM_001900.5" +HGNC:2478 CST6 cystatin E/M protein-coding gene gene with protein product Approved 11q13.1 11q13.1 Cystatins, type 2 965 1996-12-12 2016-10-05 1474 ENSG00000175315 OTTHUMG00000166750 uc001ogr.4 U62800 NM_001323 CCDS8126 Q15828 "9154125|9099741" MGI:1920970 RGD:628799 601891 I25.006 HGNC:2478 "ENST00000312134.3|NM_001323.4" +HGNC:2479 CST7 cystatin F protein-coding gene gene with protein product Approved 20p11.21 20p11.21 leukocystatin cystatin F (leukocystatin) Cystatins, type 2 965 1998-10-14 2015-12-16 2016-04-25 8530 ENSG00000077984 OTTHUMG00000032108 uc002wtx.2 AF036342 NM_003650 CCDS13165 O76096 "9733783|9632704" MGI:1298217 RGD:1309154 603253 I25.007 HGNC:2479 "ENST00000480798.2|NM_003650.4" +HGNC:2480 CST8 cystatin 8 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "CRES|CTES5" cystatin 8 (cystatin-related epididymal specific) Cystatins, type 2 965 1999-05-18 2015-12-16 2015-12-16 10047 ENSG00000125815 OTTHUMG00000032071 uc002wth.3 AF059244 NM_001281730 CCDS13156 O60676 "7619504|20565543" MGI:107161 RGD:2434 608683 I25.027 HGNC:2480 "ENST00000246012.2|NM_005492.4" +HGNC:13261 CST9 cystatin 9 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "CLM|CTES7A" testatin Cystatins, type 2 965 2004-11-26 2016-06-10 2016-06-10 128822 ENSG00000173335 OTTHUMG00000032076 uc002wtl.4 AF494536 NM_001008693.1 CCDS33450 Q5W186 20565543 MGI:1340053 616543 HGNC:13261 "ENST00000376971.4|NM_001008693.3" +HGNC:16233 CST9L cystatin 9 like protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "bA218C14.1|CTES7B" cystatin 9 (mouse)-like Cystatins, type 2 965 2001-07-17 2017-02-21 2017-02-21 128821 ENSG00000101435 OTTHUMG00000032073 uc002wtk.5 NM_080610 CCDS13157 Q9H4G1 20565543 MGI:1340053 RGD:1311032 616536 HGNC:16233 "ENST00000376979.4|NM_080610.3" +HGNC:39552 CST9LP1 cystatin 9-like pseudogene 1 pseudogene pseudogene Approved 20p11.21 20p11.21 CTES7C Cystatins, type 2 965 2011-02-21 2014-11-19 128820 ENSG00000204662 OTTHUMG00000032079 NG_029361 Q5W188 20565543 MGI:1340053 HGNC:39552 +HGNC:44337 CST9LP2 cystatin 9-like pseudogene 2 pseudogene pseudogene Approved 20p11.21 20p11.21 CTES7D Cystatins, type 2 965 2015-06-04 2015-06-04 106480788 ENSG00000204658 OTTHUMG00000032075 NG_044076 20565543 PGOHUM00000297071 HGNC:44337 +HGNC:15959 CST11 cystatin 11 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ322G13.6|CTES2" CST8L Cystatins, type 2 965 2001-09-17 2014-11-19 140880 ENSG00000125831 OTTHUMG00000032060 uc002wtf.2 AL096677 NM_130794 "CCDS13154|CCDS13155" Q9H112 20565543 MGI:1925490 RGD:620589 609731 I25.027 HGNC:15959 "ENST00000377009.8|NM_130794.2" +HGNC:31920 CST12P cystatin 12, pseudogene pseudogene pseudogene Approved 20p11.21 20p11.21 "Cst|E2|Ctes4" Cystatins, type 2 965 2012-08-14 2012-08-14 106478911 ENSG00000226344 OTTHUMG00000032072 NG_044988 "12700194|20565543" MGI:1916612 HGNC:31920 +HGNC:44335 CST13P cystatin 13, pseudogene pseudogene pseudogene Approved 20p11.21 20p11.21 "CTES6|CSTT" cystatin T Cystatins, type 2 965 2012-08-14 2015-03-19 164380 ENSG00000204663 OTTHUMG00000032078 NR_001279 20565543 MGI:1916544 HGNC:44335 +HGNC:2481 CSTA cystatin A protein-coding gene gene with protein product Approved 3q21.1 03q21.1 stefin A "STF1|STFA" cystatin A (stefin A) Cystatins, type 1 966 1990-02-06 2015-12-16 2021-05-26 1475 ENSG00000121552 OTTHUMG00000159488 uc003eex.4 NM_005213 CCDS3011 P01040 1674139 "MGI:106196|MGI:106197|MGI:106198|MGI:1924020|MGI:3524930|MGI:3524944|MGI:3644688|MGI:3645124|MGI:3648404|MGI:3696881|MGI:3696883" RGD:1309603 184600 289589 I25.001 HGNC:2481 "ENST00000264474.4|NM_005213.4" HGNC:2481 +HGNC:2482 CSTB cystatin B protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "CST6|PME" "stefin B|Epilepsy, progressive myoclonic 1" "EPM1|STFB" cystatin B (stefin B) Cystatins, type 1 966 1996-12-12 2015-12-16 2021-05-26 1476 ENSG00000160213 OTTHUMG00000086886 uc002zdr.5 L03558 NM_000100 CCDS13701 P04080 8596935 MGI:109514 RGD:2435 LRG_485|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_485.xml 601145 120867 I25.003 HGNC:2482 "ENST00000291568.7|NM_000100.4" HGNC:2482 +HGNC:2483 CSTF1 cleavage stimulation factor subunit 1 protein-coding gene gene with protein product Approved 20q13.2-q13.31 20q13.2-q13.31 "cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD|cleavage stimulation factor, 3' pre-RNA, subunit 1" "WD repeat domain containing|Cleavage stimulation factor subunits" "362|1449" 1994-12-12 2016-04-05 2018-02-13 1477 ENSG00000101138 OTTHUMG00000032791 uc002xxm.2 NM_001033521 CCDS13452 Q05048 "1358884|11257228" MGI:1914587 RGD:1309267 600369 HGNC:2483 "ENST00000217109.9|NM_001324.3" +HGNC:2484 CSTF2 cleavage stimulation factor subunit 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 CstF-64 "cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD|cleavage stimulation factor, 3' pre-RNA, subunit 2" "RNA binding motif containing|Cleavage stimulation factor subunits" "725|1449" 1994-12-12 2016-04-05 2020-04-02 1478 ENSG00000101811 OTTHUMG00000022709 uc004egh.4 BC017712 NM_001325 "CCDS78498|CCDS14473" P33240 1741396 MGI:1343054 RGD:1596566 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CSTF2 300907 HGNC:2484 "ENST00000372972.7|NM_001325.3" +HGNC:17086 CSTF2T cleavage stimulation factor subunit 2 tau variant protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "DKFZp434C1013|KIAA0689|CstF-64T|tauCstF-64" "cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant|cleavage stimulation factor, 3' pre-RNA, subunit 2, tau variant|cleavage stimulation factor subunit 2, tau variant" "RNA binding motif containing|Cleavage stimulation factor subunits" "725|1449" 2003-10-09 2016-08-11 2016-10-05 23283 ENSG00000177613 OTTHUMG00000018246 uc001jjp.4 AB014589 NM_015235 CCDS7245 Q9H0L4 "12408968|11113135" MGI:1932622 RGD:1310026 611968 HGNC:17086 "ENST00000331173.6|NM_015235.3" +HGNC:2485 CSTF3 cleavage stimulation factor subunit 3 protein-coding gene gene with protein product Approved 11p13 11p13 CstF-77 "cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD|cleavage stimulation factor, 3' pre-RNA, subunit 3" Cleavage stimulation factor subunits 1449 1995-01-16 2016-04-05 2016-04-05 1479 ENSG00000176102 OTTHUMG00000166268 uc001muh.4 U15782 NM_001326 "CCDS44564|CCDS44563|CCDS7883" Q12996 7984242 MGI:1351825 RGD:1305901 600367 HGNC:2485 "ENST00000323959.9|NM_001326.3" +HGNC:27882 CSTF3-DT CSTF3 divergent transcript non-coding RNA RNA, long non-coding Approved 11p13 11p13 CSTF3-AS1 CSTF3 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-01-23 2018-03-22 2018-03-22 2018-03-22 338739 ENSG00000247151 OTTHUMG00000166243 uc001muk.4 NR_034027 12477932 CSTF3-AS1 HGNC:27882 +HGNC:15958 CSTL1 cystatin like 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ322G13.4|CTES1" cystatin-like 1 Cystatins, type 2 965 2001-09-17 2016-04-05 2016-04-05 128817 ENSG00000125823 OTTHUMG00000032068 uc002wte.3 AL096677 NM_138283 CCDS13153 Q9H114 20565543 MGI:2652834 RGD:1307417 I25.027 HGNC:15958 "ENST00000347397.5|NM_138283.1" +HGNC:2486 CSTP1 cystatin pseudogene 1 pseudogene pseudogene Approved 20p11.21 20p11.21 dJ850N15.1 1990-02-13 2016-10-05 1480 ENSG00000228476 OTTHUMG00000032091 NG_001020 HGNC:2486 +HGNC:2487 CSTP2 cystatin pseudogene 2 pseudogene pseudogene Approved 20p11.21 20p11.21 1994-07-04 2015-08-19 1481 ENSG00000277975 OTTHUMG00000187965 AF319563 NG_000839 8179826 PGOHUM00000296924 HGNC:2487 +HGNC:28720 CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ22210|MGC4707" centriolar satellite-associated tubulin polyglutamylation protein 1 C11orf49 chromosome 11 open reading frame 49 2006-02-02 2022-01-06 2022-01-06 2022-01-06 79096 ENSG00000149179 OTTHUMG00000166725 uc001ndp.5 AL136575 NM_024113 "CCDS31479|CCDS7925|CCDS31480|CCDS41641" Q9H6J7 34782749 MGI:1915079 RGD:1309540 HGNC:28720 "ENST00000278460.12|NM_024113.5" +HGNC:33267 CT45A1 cancer/testis antigen family 45 member A1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CT45-1|CT45.1" cancer/testis antigen CT45-1 CT antigen family 45 1849 2009-03-09 2016-08-04 2016-08-04 541466 ENSG00000268940 OTTHUMG00000188602 uc033ewc.1 AY743709 NM_001017417 CCDS48174 Q5HYN5 15905330 MGI:2685494 300648 HGNC:33267 "ENST00000594565.6|NM_001017417.3" +HGNC:28400 CT45A2 cancer/testis antigen family 45 member A2 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CT45-2|CT45.2" cancer/testis antigen CT45-2 CT antigen family 45 1849 2009-03-09 2016-08-04 2020-04-02 728911 ENSG00000271449 OTTHUMG00000022490 uc033ewh.2 AY743710 NM_152582 CCDS76031 Q5DJT8 15905330 MGI:2685494 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CT45A2 300793 HGNC:28400 "ENST00000612907.2|NM_152582.7" +HGNC:33268 CT45A3 cancer/testis antigen family 45 member A3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CT45-3|CT45.3|CT45-4|CT45.4" cancer/testis antigen CT45-3 CT45A4 cancer/testis antigen family 45, member A4 CT antigen family 45 1849 2009-03-09 2016-08-04 2016-08-04 441519 ENSG00000269096 OTTHUMG00000022489 uc065bgb.1 AY743711 NM_001017435 CCDS76030 Q8NHU0 15905330 MGI:2685494 300794 HGNC:33268 "ENST00000598716.3|NM_001370148.2" +HGNC:33270 CT45A5 cancer/testis antigen family 45 member A5 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CT45-5|CT45.5" cancer/testis antigen CT45-5 CT antigen family 45 1849 2009-03-09 2016-08-04 2020-04-02 441521 ENSG00000228836 OTTHUMG00000188603 uc065bgc.1 AY743713 NM_001007551 CCDS35406 P0DMU8 15905330 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CT45A5 300796 HGNC:33270 +HGNC:33271 CT45A6 cancer/testis antigen family 45 member A6 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CT45-6|CT45.6" cancer/testis antigen CT45-6 CT antigen family 45 1849 2009-03-09 2016-08-04 2016-08-04 541465 ENSG00000278289 OTTHUMG00000188604 uc033ewf.2 AY743714 NM_001017438 CCDS35407 P0DMU7 15905330 MGI:2685494 300797 HGNC:33271 "ENST00000620654.2|NM_001017438.3" +HGNC:51260 CT45A7 cancer/testis antigen family 45 member A7 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 CT antigen family 45 1849 2014-10-10 2016-08-04 2016-08-04 101060211 ENSG00000273696 OTTHUMG00000022491 NM_001291543 CCDS76032 P0DMV0 MGI:2685494 HGNC:51260 "ENST00000610598.5|NM_001394668.1" +HGNC:51261 CT45A8 cancer/testis antigen family 45 member A8 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 CT antigen family 45 1849 2014-10-10 2016-08-04 2016-08-04 102723737 ENSG00000278085 OTTHUMG00000188605 NM_001291535 CCDS76033 P0DMV1 HGNC:51261 "ENST00000611660.5|NM_001291535.1" +HGNC:51262 CT45A9 cancer/testis antigen family 45 member A9 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 CT antigen family 45 1849 2014-10-10 2016-08-04 2016-08-04 102723680 ENSG00000270946 OTTHUMG00000188606 NM_001291540 CCDS76034 P0DMV2 MGI:2685494 RGD:1592859 HGNC:51262 "ENST00000620704.5|NM_001291540.2" +HGNC:51263 CT45A10 cancer/testis antigen family 45 member A10 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 CT antigen family 45 1849 2014-10-10 2016-08-04 2016-08-04 102723631 ENSG00000269586 OTTHUMG00000022494 NM_001291527 CCDS76035 P0DMU9 MGI:2685494 HGNC:51263 "ENST00000682849.1|NM_001291529.2" +HGNC:51336 CT45A11P cancer/testis antigen family 45 member A11, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 CT antigen family 45 1849 2014-10-10 2016-08-04 2016-08-04 100129813 ENSG00000230162 OTTHUMG00000022497 NG_022641 HGNC:51336 +HGNC:33580 CT45B1P cancer/testis antigen family 45 member B1, pseudogene pseudogene pseudogene Approved 5q21.3 05q21.3 CT antigen family 45 1849 2009-03-09 2016-08-04 2016-08-04 100337646 NG_016473 15905330 HGNC:33580 +HGNC:33282 CT47A1 cancer/testis antigen family 47 member A1 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.1 cancer/testis CT47 family, member 1 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 728096 ENSG00000236371 OTTHUMG00000022311 uc004etn.5 NM_001080146 CCDS35391 Q5JQC4 16382448 300780 HGNC:33282 "ENST00000433030.4|NM_001080146.3" +HGNC:33283 CT47A2 cancer/testis antigen family 47 member A2 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.2 cancer/testis CT47 family, member 2 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 728090 ENSG00000242362 OTTHUMG00000022312 uc004etm.4 NM_001080145 CCDS35390 Q5JQC4 16382448 300781 HGNC:33283 "ENST00000458218.3|NM_001080145.2" +HGNC:33284 CT47A3 cancer/testis antigen family 47 member A3 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.3 cancer/testis CT47 family, member 3 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 728082 ENSG00000236126 OTTHUMG00000022313 uc004etl.5 NM_001080144 CCDS35389 Q5JQC4 16382448 300782 HGNC:33284 "ENST00000441330.3|NM_001080144.2" +HGNC:33285 CT47A4 cancer/testis antigen family 47 member A4 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.4 cancer/testis CT47 family, member 4 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 728075 ENSG00000230594 OTTHUMG00000022314 uc004etk.5 NM_001080143 CCDS35388 Q5JQC4 16382448 300783 HGNC:33285 "ENST00000415858.3|NM_001080143.2" +HGNC:33286 CT47A5 cancer/testis antigen family 47 member A5 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.5 cancer/testis CT47 family, member 5 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 728072 ENSG00000237957 OTTHUMG00000022315 uc004eti.4 NM_001080142 CCDS35387 Q5JQC4 16382448 300784 HGNC:33286 "ENST00000439466.3|NM_001080142.2" +HGNC:33287 CT47A6 cancer/testis antigen family 47 member A6 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.6 cancer/testis CT47 family, member 6 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 728062 ENSG00000226023 OTTHUMG00000022316 uc065ayf.1 NM_001080141 CCDS35386 Q5JQC4 16382448 300785 HGNC:33287 "ENST00000419194.3|NM_001080141.2" +HGNC:33288 CT47A7 cancer/testis antigen family 47 member A7 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.7 cancer/testis CT47 family, member 7 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 653282 ENSG00000228517 OTTHUMG00000022317 uc004ete.4 NM_001080140 CCDS35385 Q5JQC4 16382448 300786 HGNC:33288 "ENST00000434883.3|NM_001080140.1" +HGNC:33289 CT47A8 cancer/testis antigen family 47 member A8 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.8 cancer/testis CT47 family, member 8 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 728049 ENSG00000230347 OTTHUMG00000022318 uc065ayc.1 NM_001080139 CCDS35384 Q5JQC4 16382448 300787 HGNC:33289 "ENST00000457977.3|NM_001080139.2" +HGNC:33290 CT47A9 cancer/testis antigen family 47 member A9 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.9 cancer/testis CT47 family, member 9 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 728042 ENSG00000226600 OTTHUMG00000022319 uc004etc.4 NM_001080138 CCDS35383 Q5JQC4 16382448 300788 HGNC:33290 "ENST00000417256.3|NM_001080138.2" +HGNC:33291 CT47A10 cancer/testis antigen family 47 member A10 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.10 cancer/testis CT47 family, member 10 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 728036 ENSG00000224089 OTTHUMG00000022309 uc004etb.5 NM_001080137 CCDS35382 Q5JQC4 16382448 300789 HGNC:33291 "ENST00000430448.3|NM_001080137.2" +HGNC:27397 CT47A11 cancer/testis antigen family 47 member A11 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.11 cancer/testis CT47 family, member 11 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 255313 ENSG00000226929 OTTHUMG00000022310 uc004eta.4 NM_173571 CCDS35381 Q5JQC4 16382448 300592 HGNC:27397 "ENST00000457020.3|NM_173571.2" +HGNC:33292 CT47A12 cancer/testis antigen family 47 member A12 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.12 cancer/testis CT47 family, member 12 CT antigen family 47 1850 2011-10-07 2019-01-21 2019-01-21 100507170 ENSG00000226685 OTTHUMG00000188843 uc065aye.1 NM_001242922 CCDS56607 Q5JQC4 16382448 HGNC:33292 +HGNC:33293 CT47B1 cancer/testis antigen family 47 member B1 protein-coding gene gene with protein product Approved Xq24 Xq24 CT47.13 cancer/testis CT47 family, member 13 CT antigen family 47 1850 2009-03-09 2019-01-21 2019-01-21 643311 ENSG00000236446 OTTHUMG00000187483 uc011muc.3 NM_001145718 CCDS48161 P0C2W7 16382448 RGD:7519078 300790 HGNC:33293 "ENST00000371311.5|NM_001145718.3" +HGNC:26047 CT55 cancer/testis antigen 55 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 FLJ20527 CXorf48 chromosome X open reading frame 48 2004-11-08 2013-12-10 2013-12-10 2015-09-03 54967 ENSG00000169551 OTTHUMG00000022473 AF520814 NM_017863 "CCDS14647|CCDS35400" Q8WUE5 12477932 MGI:1922263 RGD:1560456 HGNC:26047 "ENST00000276241.11|NM_001031705.3" +HGNC:27286 CT62 cancer/testis associated 62 non-coding RNA RNA, long non-coding Approved 15q23 15q23 cancer/testis antigen 62 Long non-coding RNAs with non-systematic symbols 1992 2009-08-17 2019-10-30 2019-10-30 196993 ENSG00000225362 OTTHUMG00000172836 uc002ata.3 "BC039359|AL080151" NR_168259 P0C5K7 15905330 HGNC:27286 +HGNC:54198 CT66 cancer/testis associated transcript 66 non-coding RNA RNA, long non-coding Approved 7q11.22 07q11.22 cancer/testis antigen 66 Long non-coding RNAs with non-systematic symbols 1992 2019-03-13 2019-03-13 100507468 ENSG00000234215 NR_108105 23691492 HGNC:54198 +HGNC:37196 CT69 cancer/testis associated transcript 69 non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 cancer/testis antigen 69 Long non-coding RNAs with non-systematic symbols 1992 2019-03-13 2019-03-13 101928231 ENSG00000231971 OTTHUMG00000015617 BC040308 NR_125852 "15905330|23691492" HGNC:37196 +HGNC:37195 CT70 cancer/testis associated transcript 70 non-coding RNA RNA, long non-coding Approved 9q31.1 09q31.1 LeXis cancer/testis antigen 70 Long non-coding RNAs with non-systematic symbols 1992 2019-03-13 2020-11-17 107987106 ENSG00000230013 OTTHUMG00000020419 BI818097 XR_001746866 "15905330|27251289|28744406" HGNC:37195 +HGNC:37174 CT75 cancer/testis associated transcript 75 non-coding RNA RNA, long non-coding Approved 2q36.1 02q36.1 cancer/testis antigen 75 Long non-coding RNAs with non-systematic symbols 1992 2019-03-13 2019-03-13 440934 ENSG00000237732 OTTHUMG00000153406 BC008048 NR_136638 21791470 HGNC:37174 +HGNC:33494 CT83 cancer/testis antigen 83 protein-coding gene gene with protein product Approved Xq23 Xq23 "KK-LC-1|FLJ20611|FLJ22913" Kita-kyushu lung cancer antigen 1 CXorf61 chromosome X open reading frame 61 2007-06-20 2013-12-10 2013-12-10 2014-11-19 203413 ENSG00000204019 OTTHUMG00000022244 BC062223 NM_001017978 CCDS35372 Q5H943 16651449 300625 HGNC:33494 "ENST00000371894.5|NM_001017978.4" +HGNC:24198 CTAG1A cancer/testis antigen 1A protein-coding gene gene with protein product Approved Xq28 Xq28 "LAGE2A|ESO1" 2004-06-15 2015-09-03 246100 ENSG00000268651 OTTHUMG00000024238 uc004fme.3 NM_139250 CCDS44025 P78358 "11709543|10523621" "MGI:1917312|MGI:3644285|MGI:3645826" 300657 HGNC:24198 "ENST00000599837.3|NM_139250.2" +HGNC:2491 CTAG1B cancer/testis antigen 1B protein-coding gene gene with protein product Approved Xq28 Xq28 "NY-ESO-1|LAGE2B|LAGE2A|ESO1|CT6.1" "CTAG|CTAG1" cancer/testis antigen 1 1998-06-22 2004-06-16 2004-06-15 2015-09-03 1485 ENSG00000184033 OTTHUMG00000024232 uc004fmf.1 U87459 NM_001327 CCDS14758 P78358 "9605863|11709543" 300156 HGNC:2491 "ENST00000328435.3|NM_001327.3" +HGNC:2492 CTAG2 cancer/testis antigen 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "LAGE-1|CAMEL|LAGE1|ESO2|MGC3803|MGC138724|CT6.2a|CT6.2b|LAGE-1a|LAGE-1b" "CTL-recognized antigen on melanoma|LAGE-1a protein|cancer/testis antigen family 6, member 2a|cancer/testis antigen family 6, member 2b" 2000-08-22 2020-04-02 30848 ENSG00000126890 OTTHUMG00000024239 uc004fmh.3 AJ012833 NM_020994 "CCDS14759|CCDS35455" O75638 "9626360|10399963" "MGI:1917312|MGI:3645826" RGD:1561702 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CTAG2 300396 HGNC:2492 "ENST00000369585.4|NM_172377.5" +HGNC:24346 CTAGE1 cutaneous T cell lymphoma-associated antigen 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "cTAGE-1|cTAGE-2|CTAGE|CT21.1|CT21.2" "cutaneous T-cell lymphoma-associated antigen 1|cutaneous T-cell lymphoma-associated antigen 2|cancer/testis antigen family 21, member 1|cancer/testis antigen family 21, member 2" cutaneous T-cell lymphoma-associated antigen 1 CTAGE family 907 2004-05-27 2017-12-06 2017-12-06 64693 ENSG00000212710 OTTHUMG00000165867 uc002ktv.2 AF177229 "NM_022663|NM_172241" CCDS45837 "Q96RT6|Q9HC47" "11149944|12839582" MGI:2159614 608856 HGNC:24346 "ENST00000391403.4|NM_172241.3" +HGNC:24348 CTAGE3P CTAGE family member 3, pseudogene pseudogene pseudogene Approved 13q14.3 13q14.3 cTAGE-3 cutaneous T-cell lymphoma-associated antigen 3 CTAGE3 "CTAGE family, member 3|CTAGE family, member 3, pseudogene" CTAGE family 907 2004-05-27 2010-05-26 2015-11-18 2016-10-05 220112 ENSG00000232872 OTTHUMG00000016951 AF338231 NG_006514 Q8IX95 "12839582|11149944" 608857 PGOHUM00000248402 HGNC:24348 +HGNC:24772 CTAGE4 CTAGE family member 4 protein-coding gene gene with protein product Approved 7q35 07q35 "FLJ43692|cTAGE-4" cutaneous T-cell lymphoma-associated antigen 4 CTAGE family, member 4 CTAGE family 907 2004-05-27 2015-11-18 2015-11-18 100128553 ENSG00000225932 OTTHUMG00000157997 uc010lpc.5 AF338232 NM_198495 CCDS55176 Q8IX94 "12839582|11149944" 608910 HGNC:24772 "ENST00000486333.2|NM_198495.3" +HGNC:28644 CTAGE6 CTAGE family member 6 protein-coding gene gene with protein product Approved 7q35 07q35 MGC41943 CTAGE6P "CTAGE family, member 6, pseudogene|CTAGE family, member 6" CTAGE family 907 2004-05-27 2013-02-25 2015-11-18 2021-04-13 340307 ENSG00000271321 OTTHUMG00000157770 uc003wdk.5 BC043153 NM_178561 CCDS64790 Q86UF2 12477932 LRG_1408|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1408.xml HGNC:28644 "ENST00000470691.2|NM_178561.5" +HGNC:25111 CTAGE7P CTAGE family member 7, pseudogene pseudogene pseudogene Approved 10q26.3 10q26.3 "bA500G10.2|MGC33437|rcCTAGE5" meningioma expressed antigen 6 (coiled-coil proline-rich) pseudogene "CTAGEP|CTAGE7" "CTAGE family pseudogene|CTAGE family, member 7|CTAGE family, member 7, pseudogene" CTAGE family 907 2004-05-27 2010-05-26 2015-11-18 2015-11-18 119437 ENSG00000233122 OTTHUMG00000019269 NG_006973 16201836 PGOHUM00000238968 HGNC:25111 +HGNC:37294 CTAGE8 CTAGE family member 8 protein-coding gene gene with protein product Approved 7q35 07q35 CTAGE family, member 8 CTAGE family 907 2009-10-16 2015-11-18 2015-11-18 100142659 ENSG00000244693 OTTHUMG00000158009 uc010lpe.5 AK292236 NM_001278507 CCDS64791 P0CG41 MGI:2159614 HGNC:37294 "ENST00000487179.2|NM_001278507.2" +HGNC:37275 CTAGE9 CTAGE family member 9 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 CTAGE family, member 9 CTAGE family 907 2009-10-16 2015-11-18 2015-11-18 643854 ENSG00000236761 OTTHUMG00000047966 uc011ece.3 NM_001145659 CCDS47475 A4FU28 MGI:2159614 HGNC:37275 "ENST00000314099.10|NM_001145659.1" +HGNC:37288 CTAGE10P CTAGE family member 10, pseudogene pseudogene pseudogene Approved 13q14.2 13q14.2 CTAGE family, member 10, pseudogene CTAGE family 907 2010-10-12 2015-11-18 2016-10-05 220429 ENSG00000181358 OTTHUMG00000016925 NR_003268 PGOHUM00000248591 HGNC:37288 +HGNC:37293 CTAGE11P CTAGE family member 11, pseudogene pseudogene pseudogene Approved 13q22.2 13q22.2 CTAGE family, member 11, pseudogene CTAGE family 907 2010-10-12 2015-11-18 2015-11-18 647288 ENSG00000214249 OTTHUMG00000017085 NR_027466 PGOHUM00000248439 HGNC:37293 +HGNC:37297 CTAGE12P CTAGE family member 12, pseudogene pseudogene pseudogene Approved 9p21.2 09p21.2 CTAGE family, member 12, pseudogene CTAGE family 907 2010-10-12 2015-11-18 2015-11-18 392298 ENSG00000215441 OTTHUMG00000019718 NG_028957 PGOHUM00000261940 HGNC:37297 +HGNC:37298 CTAGE13P CTAGE family member 13, pseudogene pseudogene pseudogene Approved 6q27 06q27 CTAGE family, member 13, pseudogene CTAGE family 907 2010-10-12 2015-11-18 2015-11-18 100421638 ENSG00000230711 OTTHUMG00000016044 NG_025892 PGOHUM00000243460 HGNC:37298 +HGNC:37299 CTAGE14P CTAGE family member 14, pseudogene pseudogene pseudogene Approved 2q24.3 02q24.3 CTAGE family, member 14, pseudogene CTAGE family 907 2010-10-12 2015-11-18 2015-11-18 401018 ENSG00000214211 OTTHUMG00000154029 NG_021536 PGOHUM00000240415 HGNC:37299 +HGNC:37295 CTAGE15 CTAGE family member 15 protein-coding gene gene with protein product Approved 7q35 07q35 CTAGE15P "CTAGE family, member 15, pseudogene|CTAGE family, member 15" CTAGE family 907 2010-10-12 2013-02-25 2015-11-18 2015-11-18 441294 ENSG00000271079 OTTHUMG00000153233 uc011kth.3 NM_001008747 CCDS64788 A4D2H0 HGNC:37295 "ENST00000420911.2|NM_001008747.2" +HGNC:41967 CTAGE16P CTAGE family member 16, pseudogene pseudogene pseudogene Approved 13q21.1 13q21.1 CTAGE family, member 16, pseudogene CTAGE family 907 2011-05-24 2015-11-18 2015-11-18 341689 ENSG00000214335 OTTHUMG00000016998 NG_022898 PGOHUM00000248609 HGNC:41967 +HGNC:2494 CTBP1 C-terminal binding protein 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 BARS brefeldin A-ribosylated substrate 1997-08-22 2021-05-26 1487 ENSG00000159692 OTTHUMG00000089259 uc003gcv.2 U37408 NM_001328 "CCDS3348|CCDS43203" Q13363 9479502 MGI:1201685 RGD:2441 602618 HGNC:2494 "ENST00000382952.8|NM_001012614.2" HGNC:2494 +HGNC:48337 CTBP1-AS CTBP1 antisense RNA non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 PCAT10 prostate cancer associated transcript 10 Antisense RNAs 1987 2013-06-14 2016-11-24 285463 ENSG00000280927 OTTHUMG00000189534 "AX747592|AK092548" NR_104331 "23644382|25552498" ctbp1-as HGNC:48337 +HGNC:28307 CTBP1-DT CTBP1 divergent transcript non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 MGC21675 "C4orf42|CTBP1-AS1|CTBP1-AS2" "chromosome 4 open reading frame 42|CTBP1 antisense RNA 1 (head to head)|CTBP1 antisense RNA 2 (head to head)" Divergent transcripts 1990 2007-12-19 2018-03-22 2018-03-22 2019-07-12 92070 ENSG00000196810 OTTHUMG00000160166 AK056133 NR_033339 31220774 CTBP1-AS2 HGNC:28307 +HGNC:2495 CTBP2 C-terminal binding protein 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 ribeye MicroRNA protein coding host genes 1691 1997-08-22 2015-09-11 1488 ENSG00000175029 OTTHUMG00000019224 uc009yal.4 AF016507 NM_001083914 "CCDS86154|CCDS7644|CCDS7643" P56545 "9479502|11864595" MGI:1201686 RGD:68372 602619 HGNC:2495 "ENST00000309035.11|NM_022802.3" +HGNC:23940 CTBP2P1 CTBP2 pseudogene 1 pseudogene pseudogene Approved Yq12 Yq12 C-terminal binding protein 2 pseudogene 1 2010-02-16 2019-09-02 2019-09-02 352905 ENSG00000235857 OTTHUMG00000036770 NG_002808 12815422 PGOHUM00000234105 HGNC:23940 +HGNC:45194 CTBP2P2 CTBP2 pseudogene 2 pseudogene pseudogene Approved 10q23.33 10q23.33 C-terminal binding protein 2 pseudogene 2 2013-03-06 2019-09-02 2019-09-02 100130970 ENSG00000235746 OTTHUMG00000018790 NG_022155 PGOHUM00000238591 HGNC:45194 +HGNC:45195 CTBP2P3 CTBP2 pseudogene 3 pseudogene pseudogene Approved 18q21.32 18q21.32 C-terminal binding protein 2 pseudogene 3 2013-03-06 2019-09-02 2019-09-02 220147 ENSG00000267153 OTTHUMG00000179961 NG_022494 PGOHUM00000235082 HGNC:45195 +HGNC:45196 CTBP2P4 CTBP2 pseudogene 4 pseudogene pseudogene Approved 5q15 05q15 C-terminal binding protein 2 pseudogene 4 2013-03-06 2019-09-02 2019-09-02 642909 ENSG00000251102 OTTHUMG00000162748 NG_021892 PGOHUM00000235708 HGNC:45196 +HGNC:45197 CTBP2P5 CTBP2 pseudogene 5 pseudogene pseudogene Approved 2p16.3 02p16.3 C-terminal binding protein 2 pseudogene 5 2013-03-07 2019-09-02 2019-09-02 646936 ENSG00000214602 OTTHUMG00000151768 NG_021499 PGOHUM00000240038 HGNC:45197 +HGNC:45198 CTBP2P6 CTBP2 pseudogene 6 pseudogene pseudogene Approved 11p11.2 11p11.2 C-terminal binding protein 2 pseudogene 6 2013-03-07 2019-09-02 2019-09-02 120449 ENSG00000213697 OTTHUMG00000166401 NG_021815 PGOHUM00000242652 HGNC:45198 +HGNC:45199 CTBP2P7 CTBP2 pseudogene 7 pseudogene pseudogene Approved 19q13.12 19q13.12 C-terminal binding protein 2 pseudogene 7 2013-03-07 2019-09-02 2019-09-02 401914 ENSG00000267091 OTTHUMG00000180713 NG_021748 PGOHUM00000234295 HGNC:45199 +HGNC:45200 CTBP2P8 CTBP2 pseudogene 8 pseudogene pseudogene Approved 1p31.3 01p31.3 C-terminal binding protein 2 pseudogene 8 2013-03-07 2019-09-02 2019-09-02 100420253 ENSG00000234383 OTTHUMG00000009154 NG_026947 PGOHUM00000244063 HGNC:45200 +HGNC:54511 CTBP2P9 CTBP2 pseudogene 9 pseudogene pseudogene Approved 21p11.2 21p11.2 2019-09-02 2019-09-02 107987306 ENSG00000279177 OTTHUMG00000189473 PGOHUM00000297176 HGNC:54511 +HGNC:54512 CTBP2P10 CTBP2 pseudogene 10 pseudogene pseudogene Approved 21p11.2 21p11.2 2019-09-02 2019-09-02 107987305 ENSG00000280330 OTTHUMG00000189471 PGOHUM00000297304 HGNC:54512 +HGNC:54513 CTBP2P11 CTBP2 pseudogene 11 pseudogene pseudogene Approved 21p12 21p12 2019-09-02 2019-09-02 107987307 HGNC:54513 +HGNC:2496 CTBS chitobiase protein-coding gene gene with protein product Approved 1p22.3 01p22.3 di-N-acetylchitobiase CTB chitobiase, di-N-acetyl- Chitinases 816 1992-07-21 2016-02-29 2018-08-01 1486 ENSG00000117151 OTTHUMG00000009922 uc001dka.3 M95767 NM_004388 CCDS698 Q01459 "1549114|7606925" MGI:1921495 RGD:621338 600873 3.2.1.- HGNC:2496 "ENST00000370630.6|NM_004388.3" +HGNC:26169 CTC1 CST telomere replication complex component 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ22170|AAF132" "conserved telomere maintenance component 1|alpha accessory factor 132|conserved telomere capping protein 1" C17orf68 "tmp494178|chromosome 17 open reading frame 68|CST telomere maintenance complex component 1" CST complex 1343 2005-12-16 2011-02-21 2016-10-04 2021-05-26 80169 ENSG00000178971 OTTHUMG00000178443 uc002gkq.5 AL831955 NM_025099 CCDS42259 Q2NKJ3 "19854130|19854131" MGI:1916214 RGD:1563106 LRG_1124|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1124.xml 613129 317684 HGNC:26169 "ENST00000651323.1|NM_025099.6" HGNC:26169 +HGNC:13723 CTCF CCCTC-binding factor protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FAP108|CFAP108" 11 zinc finger transcriptional repressor CCCTC-binding factor (zinc finger protein) "Zinc fingers C2H2-type|Cilia and flagella associated" "28|1491" 2000-10-20 2016-02-12 2021-05-26 10664 ENSG00000102974 OTTHUMG00000137539 uc002etl.4 U25435 NM_006565 "CCDS10841|CCDS86536|CCDS54029" P49711 "8649389|18550811" MGI:109447 RGD:621344 CTCF 604167 365130 HGNC:13723 "ENST00000264010.10|NM_006565.4" HGNC:13723 +HGNC:55409 CTCF-DT CTCF divergent transcript non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 Divergent transcripts 1990 2021-01-06 2021-01-06 107984813 ENSG00000259804 NR_158165 +HGNC:16234 CTCFL CCCTC-binding factor like protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "dJ579F20.2|BORIS|CT27" "cancer/testis antigen 27|transcriptional repressor CTCFL" CCCTC-binding factor (zinc finger protein)-like Zinc fingers C2H2-type 28 2001-07-17 2016-02-12 2016-08-25 140690 ENSG00000124092 OTTHUMG00000032829 uc010gjd.2 NM_080618 "CCDS68162|CCDS58781|CCDS68163|CCDS58776|CCDS58782|CCDS68164|CCDS58777|CCDS13459|CCDS58780|CCDS58778|CCDS58779|CCDS68161" Q8NI51 MGI:3652571 RGD:2321501 607022 HGNC:16234 "ENST00000243914.8|NM_001386993.1" +HGNC:19085 CTDNEP1 CTD nuclear envelope phosphatase 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "HSA011916|NET56" C-terminal domain nuclear envelope phosphatase 1 DULLARD dullard homolog (Xenopus laevis) CTD family phosphatases 1041 2003-05-22 2010-10-27 2010-10-27 2016-10-05 23399 ENSG00000175826 OTTHUMG00000102180 uc060aky.1 AJ011916 NM_015343 CCDS11093 O95476 "12083771|17141153" MGI:1914431 RGD:1310172 610684 HGNC:19085 "ENST00000574322.6|NM_001143775.2" +HGNC:2498 CTDP1 CTD phosphatase subunit 1 protein-coding gene gene with protein product Approved 18q23 18q23 FCP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 CTD family phosphatases 1041 1999-02-09 2015-11-06 2021-04-13 9150 ENSG00000060069 OTTHUMG00000132920 uc002lnh.3 AF081287 NM_004715 "CCDS74239|CCDS12018|CCDS12017" Q9Y5B0 "9405607|9765293" MGI:1926953 RGD:1311755 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_236|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_236.xml" 604927 120873 HGNC:2498 "ENST00000613122.5|NM_004715.5" HGNC:2498 +HGNC:26370 CTDP1-DT CTDP1 divergent transcript non-coding RNA RNA, long non-coding Approved 18q23 18q23 Divergent transcripts 1990 2021-10-13 2021-10-13 284241 ENSG00000178412 OTTHUMG00000180271 NR_136643 +HGNC:21614 CTDSP1 CTD small phosphatase 1 protein-coding gene gene with protein product Approved 2q35 02q35 "NLIIF|SCP1" "nuclear LIM interactor-interacting factor|small CTD phosphatase 1" CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 "CTD family phosphatases|MicroRNA protein coding host genes" "1041|1691" 2003-10-27 2015-11-06 2015-11-06 58190 ENSG00000144579 OTTHUMG00000133109 uc002vhy.3 AF229162 "NM_182642|NM_021198" "CCDS2416|CCDS56166" Q9GZU7 "11950066|12721286" MGI:2654470 RGD:1305629 605323 HGNC:21614 "ENST00000273062.7|NM_021198.3" +HGNC:17077 CTDSP2 CTD small phosphatase 2 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "OS4|SCP2|PSR2" "conserved gene amplified in osteosarcoma|nuclear LIM interactor-interacting factor 2|NLI-interacting factor 2|small CTD phosphatase 2" CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 "CTD family phosphatases|MicroRNA protein coding host genes" "1041|1691" 2003-10-27 2015-11-06 2015-11-06 10106 ENSG00000175215 OTTHUMG00000170483 uc001sqm.4 AF000152 NM_005730 CCDS41801 O14595 "9315096|12721286" MGI:1098748 RGD:2319209 608711 HGNC:17077 "ENST00000398073.7|NM_005730.4" +HGNC:16890 CTDSPL CTD small phosphatase like protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "HYA22|SCP3|PSR1|RBSP3" "small CTD phosphatase 3|HYA22 protein|RB protein serine phosphatase from chromosome 3" C3orf8 "chromosome 3 open reading frame 8|CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like" "CTD family phosphatases|MicroRNA protein coding host genes" "1041|1691" 2003-04-03 2003-10-29 2015-11-06 2016-10-05 10217 ENSG00000144677 OTTHUMG00000155942 uc003chg.4 D88153 NM_005808 "CCDS33734|CCDS33735" O15194 "9179494|12543795" MGI:1916524 RGD:1304841 608592 3.1.3.16 HGNC:16890 "ENST00000273179.10|NM_001008392.2" +HGNC:26936 CTDSPL2 CTD small phosphatase like 2 protein-coding gene gene with protein product Approved 15q15.3-q21.1 15q15.3-q21.1 "HSPC129|FLJ10523" CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 CTD family phosphatases 1041 2005-09-02 2015-11-06 2018-02-13 51496 ENSG00000137770 OTTHUMG00000131159 uc001ztr.4 AF161478 NM_016396 CCDS10110 Q05D32 MGI:1196405 RGD:1309219 618739 HGNC:26936 "ENST00000260327.9|NM_016396.3" +HGNC:55415 CTDSPL2-DT CTDSPL2 divergent transcript non-coding RNA RNA, long non-coding Approved 15q15.3 15q15.3 Divergent transcripts 1990 2021-01-06 2021-01-06 120017340 ENSG00000259595 +HGNC:55031 CTDSPL2P1 CTDSPL2 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-05-28 2020-05-28 643605 ENSG00000236988 NG_022626 +HGNC:55042 CTDSPL2P2 CTDSPL2 pseudogene 2 pseudogene pseudogene Approved Xq22.3 Xq22.3 2020-06-03 2020-06-03 100131448 ENSG00000230788 NG_022687 +HGNC:2499 CTF1 cardiotrophin 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "CT-1|CT1" Interleukin 6 type cytokine family 1264 1995-05-01 2021-04-13 1489 ENSG00000150281 OTTHUMG00000132413 uc002dzw.3 U43030 NM_001330 "CCDS45464|CCDS10694" Q16619 8833032 MGI:105115 RGD:2442 LRG_408|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_408.xml 600435 470144 ligandId:4906 HGNC:2499 "ENST00000279804.3|NM_001330.5" HGNC:2499 +HGNC:33173 CTF2P cardiotrophin 2, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 NP neuropoietin Interleukin 6 type cytokine family 1264 2006-11-10 2009-12-08 2020-08-14 100289419 ENSG00000230447 OTTHUMG00000154385 NG_005797 15051883 MGI:2684607 HGNC:33173 +HGNC:2501 CTH cystathionine gamma-lyase protein-coding gene gene with protein product Approved 1p31.1 01p31.1 CSE cystathionase (cystathionine gamma-lyase) 1986-01-01 2014-06-24 2021-08-12 1491 ENSG00000116761 OTTHUMG00000009352 uc001dfd.4 BC015807 NM_001902 "CCDS651|CCDS53333|CCDS650" P32929 1339280 MGI:1339968 RGD:2443 607657 120876 objectId:1444 4.4.1.1 HGNC:2501 "ENST00000370938.8|NM_001902.6" HGNC:2501 +HGNC:18831 CTHRC1 collagen triple helix repeat containing 1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 2002-07-22 2008-08-07 115908 ENSG00000164932 OTTHUMG00000164887 uc003ylk.5 BC014245 NM_138455 "CCDS6299|CCDS59110" Q96CG8 15618538 MGI:1915838 RGD:628801 610635 297632 HGNC:18831 "ENST00000330295.10|NM_138455.4" HGNC:18831 +HGNC:50463 CTHRC1P1 collagen triple helix repeat containing 1 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2014-04-30 2014-04-30 106480299 ENSG00000271005 OTTHUMG00000185045 NG_044248 PGOHUM00000241411 HGNC:50463 +HGNC:23925 CTIF cap binding complex dependent translation initiation factor protein-coding gene gene with protein product Approved 18q21.1 18q21.1 KIAA0427 "KIAA0427|CBP80/20-dependent translation initiation factor" "MicroRNA protein coding host genes|MIF4G domain containing proteins" "1691|2128" 2003-12-15 2011-01-20 2016-06-09 2016-06-09 9811 ENSG00000134030 OTTHUMG00000132656 uc002ldc.4 AB007887 NM_014772 "CCDS45864|CCDS11935" O43310 "9455477|19648179" MGI:2685518 RGD:1311887 613178 HGNC:23925 "ENST00000256413.8|NM_014772.3" +HGNC:2505 CTLA4 cytotoxic T-lymphocyte associated protein 4 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "CD152|CD|GSE|CTLA-4" "CELIAC3|IDDM12" "celiac disease 3|insulin-dependent diabetes mellitus 12" "CD molecules|V-set domain containing" "471|590" 1989-05-25 2016-01-13 2021-04-13 1493 ENSG00000163599 OTTHUMG00000132877 uc002vak.3 NM_005214 "CCDS2362|CCDS42803" P16410 "3220103|8817351" MGI:88556 RGD:61975 LRG_1220|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1220.xml 123890 120878 objectId:2743 CD152 HGNC:2505 "ENST00000648405.2|NM_005214.5" HGNC:2505 +HGNC:2509 CTNNA1 catenin alpha 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 CAP102 alpha-E-catenin catenin (cadherin-associated protein), alpha 1 (102kD) Alpha catenins 1543 1993-07-13 2015-11-19 2021-05-26 1495 ENSG00000044115 OTTHUMG00000163502 uc003ldh.4 D13866 NM_001903 "CCDS34243|CCDS78064|CCDS75315" P35221 1924379 MGI:88274 RGD:1359485 116805 436845 HGNC:2509 "ENST00000302763.12|NM_001903.5" HGNC:2509 +HGNC:55535 CTNNA1-AS1 CTNNA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 Antisense RNAs 1987 2021-03-24 2021-03-24 105379194 ENSG00000253404 NR_134245 +HGNC:2513 CTNNA1P1 catenin alpha 1 pseudogene 1 pseudogene pseudogene Approved 5q22.3 05q22.3 CTNNAP1 "catenin (cadherin-associated protein), alpha pseudogene 1|catenin (cadherin-associated protein), alpha 1 pseudogene 1" 1995-01-10 2009-12-02 2015-11-19 2016-10-05 1498 ENSG00000249026 OTTHUMG00000162908 Z37994 NG_001110 7601473 PGOHUM00000300721 HGNC:2513 +HGNC:2510 CTNNA2 catenin alpha 2 protein-coding gene gene with protein product Approved 2p12 02p12 "CAP-R|CT114" "cadherin-associated protein, related|cancer/testis antigen 114|alpha-N-catenin" catenin (cadherin-associated protein), alpha 2 Alpha catenins 1543 1993-07-13 2015-11-19 2021-05-26 1496 ENSG00000066032 OTTHUMG00000152903 uc010yse.3 NM_004389 "CCDS54371|CCDS74531|CCDS42703|CCDS62944|CCDS62945" P26232 8432524 MGI:88275 RGD:1305060 114025 HGNC:2510 "ENST00000402739.9|NM_001282597.3" HGNC:2510 +HGNC:40165 CTNNA2-AS1 CTNNA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p12 02p12 Antisense RNAs 1987 2019-07-25 2019-07-25 101927987 ENSG00000229385 OTTHUMG00000152910 NR_110289 HGNC:40165 +HGNC:2511 CTNNA3 catenin alpha 3 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "VR22|MGC26194" alpha-T-catenin catenin (cadherin-associated protein), alpha 3 "Alpha catenins|MicroRNA protein coding host genes" "1543|1691" 2000-03-29 2015-11-19 2021-05-26 29119 ENSG00000183230 OTTHUMG00000018334 uc001jmw.3 AF091606 NM_013266 CCDS7269 Q9UI47 "12596047|11590244" MGI:2661445 RGD:1562230 607667 390869 HGNC:2511 "ENST00000433211.7|NM_013266.4" HGNC:2511 +HGNC:2512 CTNNAL1 catenin alpha like 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "CLLP|alpha-CATU" "alpha-catulin|alpha2-catulin" "catenin (cadherin-associated protein), alpha-like 1|catenin alpha-like 1" 1998-12-09 2016-03-15 2016-10-05 8727 ENSG00000119326 OTTHUMG00000020466 uc004bdo.3 AF030233 NM_003798 "CCDS69638|CCDS6775" Q9UBT7 9806841 MGI:1859649 RGD:1311434 604785 HGNC:2512 "ENST00000325551.9|NM_003798.4" +HGNC:2514 CTNNB1 catenin beta 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "beta-catenin|armadillo" CTNNB "catenin (cadherin-associated protein), beta 1 (88kD)|catenin (cadherin-associated protein), beta 1, 88kDa|catenin (cadherin-associated protein), beta 1" "Armadillo repeat containing|Beta catenins|Wnt enhanceosome complex" "409|1542|1677" 1993-07-13 2015-11-19 2021-05-26 1499 ENSG00000168036 OTTHUMG00000131393 uc010hia.2 X87838 NM_001098210 "CCDS2694|CCDS87067" P35222 7829088 MGI:88276 RGD:70487 LRG_1108|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1108.xml CTNNB1 116806 120881 ligandId:5371 HGNC:2514 "ENST00000349496.11|NM_001904.4" HGNC:2514 +HGNC:16913 CTNNBIP1 catenin beta interacting protein 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "ICAT|MGC15093" "beta-catenin-interacting protein ICAT|inhibitor of beta-catenin and Tcf-4" "catenin, beta-interacting protein 1|catenin, beta interacting protein 1" 2001-11-14 2015-11-19 2015-11-19 56998 ENSG00000178585 OTTHUMG00000001796 uc001aqk.2 AB021262 NM_020248 CCDS106 Q9NSA3 10898789 MGI:1915756 RGD:1562749 607758 HGNC:16913 "ENST00000377263.6|NM_020248.3" +HGNC:15879 CTNNBL1 catenin beta like 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "FLJ21108|P14L|P14|NAP|NYD-SP19" nuclear associated protein C20orf33 "chromosome 20 open reading frame 33|catenin, beta like 1" "NineTeen complex|Armadillo like helical domain containing|Spliceosomal C complex" "1361|1492|1510" 2001-06-21 2002-05-31 2015-11-19 2016-10-05 56259 ENSG00000132792 OTTHUMG00000032428 uc061wwh.1 AL023804 NM_030877 "CCDS13298|CCDS63269" Q8WYA6 "12659813|21385873" MGI:1913892 RGD:1563558 611537 HGNC:15879 "ENST00000361383.11|NM_030877.5" +HGNC:54948 CTNNBL1P1 CTNNBL1 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-05-01 2020-05-01 392456 ENSG00000231235 NG_022597 +HGNC:2515 CTNND1 catenin delta 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "KIAA0384|p120|p120cas|p120ctn" CTNND catenin (cadherin-associated protein), delta 1 "Armadillo repeat containing|p120 catenin family" "409|1539" 1995-09-18 2015-11-19 2021-05-26 1500 ENSG00000198561 OTTHUMG00000167272 uc021qjk.2 AB002382 NM_001331 "CCDS44604|CCDS44609|CCDS44608|CCDS44607|CCDS44606|CCDS44605|CCDS53634|CCDS55763|CCDS55764|CCDS53633|CCDS55765|CCDS55766|CCDS55767|CCDS53632|CCDS73290" O60716 8808291 MGI:105100 RGD:1305643 601045 470146 HGNC:2515 "ENST00000399050.10|NM_001085458.2" HGNC:2515 +HGNC:2516 CTNND2 catenin delta 2 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "NPRAP|GT24" "neural plakophilin-related arm-repeat protein|neurojungin" "catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)|catenin (cadherin-associated protein), delta 2" "Armadillo repeat containing|p120 catenin family" "409|1539" 1997-06-24 2015-11-19 2017-08-07 1501 ENSG00000169862 OTTHUMG00000090511 uc003jfa.3 U52828 NM_001332 "CCDS75228|CCDS75227|CCDS3881" Q9UQB3 "9342840|9223106" MGI:1195966 RGD:620734 604275 159484 HGNC:2516 "ENST00000304623.13|NM_001332.4" HGNC:2516 +HGNC:2518 CTNS cystinosin, lysosomal cystine transporter protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "CTNS-LSB|PQLC4|SLC66A4" cystinosis, nephropathic Solute carriers 752 1998-07-15 2011-06-07 2021-05-26 1497 ENSG00000040531 OTTHUMG00000090693 uc002fwb.4 AJ222967 NM_004937 "CCDS32530|CCDS11031" O60931 "9537412|15128704" MGI:1932872 RGD:1308466 606272 120884 objectId:3163 HGNC:2518 "ENST00000046640.9|NM_004937.3" HGNC:2518 +HGNC:56090 CTNS-AS1 CTNS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Antisense RNAs 1987 2021-12-20 2021-12-20 105371492 ENSG00000262903 +HGNC:2519 CTPS1 CTP synthase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 GATD5A CTPS CTP synthase Glutamine amidotransferase class 1 domain containing 1408 1991-07-12 2012-05-02 2012-05-02 2021-05-26 1503 ENSG00000171793 OTTHUMG00000005712 uc001cgk.5 BC009408 NM_001905 CCDS459 P17812 1783378 MGI:1858304 RGD:1311060 LRG_1229|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1229.xml 123860 431591 6.3.4.2 HGNC:2519 "ENST00000650070.2|NM_001905.4" HGNC:2519 +HGNC:2520 CTPS2 CTP synthase 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 GATD5B CTP synthase II "Glutamine amidotransferase class 1 domain containing|MicroRNA protein coding host genes" "1408|1691" 2000-09-01 2012-05-02 2021-04-19 56474 ENSG00000047230 OTTHUMG00000021193 uc004cxm.5 AF086422 NM_019857 CCDS14175 Q9NRF8 10899599 MGI:1933185 RGD:1563369 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CTPS2 300380 6.3.4.2 HGNC:2520 "ENST00000359276.9|NM_175859.3" +HGNC:16850 CTR9 CTR9 homolog, Paf1/RNA polymerase II complex component protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA0155|TSBP|p150TSP" SH2BP1 "SH2 domain binding protein 1 (tetratricopeptide repeat containing)|Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)" "Tetratricopeptide repeat domain containing|Paf1/RNA polymerase II complex " "769|1029" 2003-03-14 2006-05-22 2015-07-03 2021-05-26 9646 ENSG00000198730 OTTHUMG00000165789 uc001mja.4 D63875 NM_014633 CCDS7805 Q6PD62 "8590280|8636124" MGI:109345 RGD:1311097 609366 HGNC:16850 "ENST00000361367.7|NM_014633.5" +HGNC:2521 CTRB1 chymotrypsinogen B1 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 CTRB 1986-01-01 2014-11-19 1504 ENSG00000168925 OTTHUMG00000159272 uc002fds.4 NM_001906 CCDS32490 P17538 "2917002|8186414" MGI:88559 118890 S01.152 3.4.21.1 HGNC:2521 "ENST00000361017.9|NM_001906.6" +HGNC:2522 CTRB2 chymotrypsinogen B2 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 1992-12-08 2016-10-05 440387 ENSG00000168928 OTTHUMG00000159271 uc002fdr.4 "M24400|AK131056" NM_001025200 CCDS32489 Q6GPI1 "2917002|8186414" MGI:88559 RGD:2444 619620 3.4.21.1 HGNC:2522 "ENST00000303037.13|NM_001025200.4" +HGNC:2523 CTRC chymotrypsin C protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "CLCR|ELA4" "elastase 4|caldecrin|chymotrypsinogen C" chymotrypsin C (caldecrin) 2000-06-08 2015-11-30 2021-08-12 11330 ENSG00000162438 OTTHUMG00000002255 uc001awi.2 BC015118 NM_007272 CCDS156 Q99895 8635596 MGI:1923951 RGD:1308379 601405 139109 S01.157 objectId:2341 3.4.21.2 HGNC:2523 "ENST00000375949.5|NM_007272.3" HGNC:2523 +HGNC:2524 CTRL chymotrypsin like protein-coding gene gene with protein product Approved 16q22.1 16q22.1 chymotrypsin-like 1993-07-29 2016-03-17 2016-03-17 1506 ENSG00000141086 OTTHUMG00000137552 uc002euw.4 NM_001907 CCDS10852 P40313 8268911 MGI:88558 RGD:621501 118888 S01.256 objectId:2342 HGNC:2524 "ENST00000574481.6|NM_001907.3" +HGNC:9251 CTSA cathepsin A protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "carboxypeptidase C|lysosomal protective protein|carboxypeptidase-L|carboxypeptidase Y-like kininase|deamidase|lysosomal carboxypeptidase A|urinary kininase" "GSL|PPGB" protective protein for beta-galactosidase (galactosialidosis) Cathepsins 470 1986-01-01 2006-12-05 2006-12-05 2021-05-26 5476 ENSG00000064601 OTTHUMG00000033078 uc002xqh.4 M22960 NM_000308 CCDS46609 P10619 2071143 MGI:97748 RGD:1309070 613111 120888 S10.002 objectId:1581 3.4.16.5 HGNC:9251 "ENST00000646241.3|NM_000308.4" HGNC:9251 +HGNC:2527 CTSB cathepsin B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 Cathepsins 470 2001-06-22 2014-11-19 1508 ENSG00000164733 OTTHUMG00000090799 uc003wuq.4 M14221 NM_147780 CCDS5986 P07858 "8112600|3463996" MGI:88561 RGD:621509 116810 C01.060 objectId:2343 3.4.22.1 HGNC:2527 "ENST00000353047.11|NM_001908.5" HGNC:2527 +HGNC:2528 CTSC cathepsin C protein-coding gene gene with protein product Approved 11q14.2 11q14.2 DPP1 dipeptidyl peptidase 1 "PLS|PALS" Cathepsins 470 1995-11-08 2021-05-26 1075 ENSG00000109861 OTTHUMG00000167290 uc001pck.5 AK223038 NM_001814 "CCDS44693|CCDS8282|CCDS31654" P53634 "7649281|9092576" MGI:109553 RGD:2445 "CTSCbase: Mutation registry for Papillon-Lefevre syndrome|http://structure.bmc.lu.se/idbase/CTSCbase/|LRG_50|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_50.xml" 602365 120892 objectId:2344 3.4.14.1 HGNC:2528 "ENST00000227266.10|NM_001814.6" HGNC:2528 +HGNC:2529 CTSD cathepsin D protein-coding gene gene with protein product Approved 11p15.5 11p15.5 CLN10 ceroid-lipofuscinosis, neuronal 10 CPSD cathepsin D (lysosomal aspartyl protease) "Cathepsins|Peptidase family A1" "470|1928" 1986-01-01 2006-12-05 2021-05-26 1509 ENSG00000117984 OTTHUMG00000044760 uc001luc.2 M11233 NM_001909 CCDS7725 P07339 3927292 MGI:88562 RGD:621511 Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/ 116840 159489 A01.009 objectId:2345 3.4.23.5 HGNC:2529 "ENST00000236671.7|NM_001909.5" HGNC:2529 +HGNC:2530 CTSE cathepsin E protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Cathepsins|Peptidase family A1" "470|1928" 1989-05-19 2015-09-11 1510 ENSG00000196188 OTTHUMG00000036121 uc001hdu.3 BC042537 NM_001910 "CCDS73013|CCDS73012" P14091 "2369841|2674141" MGI:107361 RGD:2446 116890 A01.010 objectId:2346 3.4.23.5 HGNC:2530 "ENST00000358184.7|NM_001910.4" +HGNC:2531 CTSF cathepsin F protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "CATSF|CLN13" Cathepsins 470 1998-12-17 2021-05-26 8722 ENSG00000174080 OTTHUMG00000167090 uc001oip.4 AF071749 NM_003793 CCDS8144 Q9UBX1 "9822672|10318784" MGI:1861434 RGD:1308181 603539 356180 C01.018 objectId:2347 HGNC:2531 "ENST00000310325.10|NM_003793.4" HGNC:2531 +HGNC:2532 CTSG cathepsin G protein-coding gene gene with protein product Approved 14q12 14q12 CG "Cathepsins|Receptor ligands|Granule associated serine proteases of immune defence" "470|542|1636" 1990-01-22 2015-09-11 1511 ENSG00000100448 OTTHUMG00000140182 uc001wpq.4 M16117 NM_001911 CCDS9631 P08311 2569462 MGI:88563 RGD:1307681 116830 S01.133 objectId:2348 HGNC:2532 "ENST00000216336.3|NM_001911.3" +HGNC:2535 CTSH cathepsin H protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "ACC-4|ACC-5|ACC4|ACC5" CPSB "Cathepsins|Minor histocompatibility antigens" "470|870" 2001-06-22 2021-05-26 1512 ENSG00000103811 OTTHUMG00000144171 uc021srk.2 X07549 NM_004390 CCDS10308 P09668 2849458 MGI:107285 RGD:2447 116820 371315 C01.040 objectId:2349 3.4.22.16 HGNC:2535 "ENST00000220166.10|NM_004390.5" +HGNC:2536 CTSK cathepsin K protein-coding gene gene with protein product Approved 1q21.3 01q21.3 PKND "CTSO2|CTSO|PYCD" cathepsin K (pycnodysostosis) Cathepsins 470 1995-05-11 2006-12-05 2021-05-26 1513 ENSG00000143387 OTTHUMG00000035008 uc001evp.3 BC016058 NM_000396 CCDS969 P43235 7818555 MGI:107823 RGD:61810 601105 120897 objectId:2350 HGNC:2536 "ENST00000271651.8|NM_000396.4" HGNC:2536 +HGNC:2537 CTSL cathepsin L protein-coding gene gene with protein product Approved 9q21.33 09q21.33 FLJ31037 CTSL1 cathepsin L1 Cathepsins 470 1989-03-06 2013-06-27 2013-06-27 2021-05-26 1514 ENSG00000135047 OTTHUMG00000020149 X12451 NM_001912 CCDS6675 P07711 "8419312|2835398" "MGI:88564|MGI:1349426|MGI:1860262|MGI:1860275|MGI:1861723|MGI:1889619|MGI:1917452|MGI:1922258|MGI:1927229|MGI:2137385|MGI:2151929|MGI:2682300" RGD:2448 116880 objectId:2351 3.4.22.15 HGNC:2537 "ENST00000343150.10|NM_001912.5" +HGNC:33132 CTSL3P cathepsin L family member 3, pseudogene pseudogene pseudogene Approved 9q21.33 09q21.33 HCTSL-s CTSL3 cathepsin L family member 3 2007-04-27 2013-01-07 2013-01-07 2015-02-02 392360 ENSG00000188029 OTTHUMG00000020152 AJ851862 NR_027917 Q5NE16 19663681 RGD:631420 PGOHUM00000304362 I29.001 HGNC:33132 +HGNC:2539 CTSLP1 cathepsin L pseudogene 1 pseudogene pseudogene Approved 10q23.2 10q23.2 "CTSLL|CTSLL1|CTSL1P1" "cathepsin L-like 1|cathepsin L1 pseudogene 1" 1993-12-06 2013-06-27 2013-06-27 2020-04-20 118945 ENSG00000236417 OTTHUMG00000018677 L07772 NG_009858 7713509 PGOHUM00000289941 C01.P02 HGNC:2539 +HGNC:2540 CTSLP2 cathepsin L pseudogene 2 pseudogene pseudogene Approved 10q11.22 10q11.22 "bA342C24.4|bA144G6.6" "CTSLL2|CTSL1P2|CTSLP5|CTSLL5|CTSL1P5|CTSLP7|CTSLL7|CTSL1P7" "cathepsin L-like 2|cathepsin L1 pseudogene 2|cathepsin L pseudogene 5|cathepsin L-like 5|cathepsin L1 pseudogene 5|cathepsin L pseudogene 7|cathepsin L-like 7|cathepsin L1 pseudogene 7" 1993-12-06 2013-06-27 2013-06-27 2015-02-02 1517 ENSG00000266217 OTTHUMG00000018112 L25628 NR_033407 7713509 PGOHUM00000289848 I29.001 HGNC:2540 +HGNC:2541 CTSLP3 cathepsin L pseudogene 3 pseudogene pseudogene Approved 10q11.22 10q11.22 "CTSLL3|CTSL1P3" "cathepsin L-like 3|cathepsin L1 pseudogene 3" 1993-12-06 2013-06-27 2013-06-27 2020-04-21 644021 ENSG00000280913 OTTHUMG00000189702 L25629 NG_016830 7713509 PGOHUM00000290146 C01.P08 HGNC:2541 +HGNC:23645 CTSLP4 cathepsin L pseudogene 4 pseudogene pseudogene Approved 10q11.23 10q11.23 "bA564C4.3|OTTHUMG00000018237" "CTSLL4|CTSL1P4" "cathepsin L-like 4|cathepsin L1 pseudogene 4" 2004-05-27 2013-06-27 2013-06-27 2015-02-02 644496 ENSG00000230011 OTTHUMG00000018237 NG_021158 19663681 PGOHUM00000289864 HGNC:23645 +HGNC:23611 CTSLP6 cathepsin L pseudogene 6 pseudogene pseudogene Approved 10q22.3 10q22.3 bA479O17.1 "CTSLL6|CTSL1P6" "cathepsin L-like 6|cathepsin L1 pseudogene 6" 2004-05-27 2013-06-27 2013-06-27 2015-02-02 642413 ENSG00000204437 OTTHUMG00000018589 NG_021157 PGOHUM00000289921 HGNC:23611 +HGNC:39084 CTSLP8 cathepsin L pseudogene 8 pseudogene pseudogene Approved 9q22.1 09q22.1 CTSL1P8 cathepsin L1 pseudogene 8 2010-10-12 2013-06-27 2013-06-27 2015-02-02 1518 ENSG00000234575 OTTHUMG00000020154 NR_033405 PGOHUM00000304365 HGNC:39084 +HGNC:2542 CTSO cathepsin O protein-coding gene gene with protein product Approved 4q32.1 04q32.1 CTSO1 Cathepsins 470 1997-10-10 2014-11-19 1519 ENSG00000256043 OTTHUMG00000161942 uc003ipg.4 X77383 NM_001334 CCDS3794 P43234 9790772 MGI:2139628 RGD:1589156 600550 C01.035 HGNC:2542 "ENST00000433477.4|NM_001334.3" +HGNC:2545 CTSS cathepsin S protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Cathepsins 470 1992-07-09 2016-10-05 1520 ENSG00000163131 OTTHUMG00000035010 uc001evn.3 M90696 NM_004079 "CCDS55634|CCDS968" P25774 1373132 MGI:107341 RGD:621513 116845 objectId:2353 3.4.22.27 HGNC:2545 "ENST00000368985.8|NM_004079.5" +HGNC:2538 CTSV cathepsin V protein-coding gene gene with protein product Approved 9q22.33 09q22.33 CTSU CTSL2 cathepsin L2 Cathepsins 470 1998-08-27 2013-06-27 2013-06-27 2015-09-11 1515 ENSG00000136943 OTTHUMG00000020314 Y14734 NM_001333 CCDS6723 O60911 "9563472|10029531" MGI:88564 603308 objectId:2352 HGNC:2538 "ENST00000259470.6|NM_001333.4" +HGNC:2546 CTSW cathepsin W protein-coding gene gene with protein product Approved 11q13.1 11q13.1 cathepsin W (lymphopain) Cathepsins 470 1997-06-12 2006-12-05 2014-11-19 1521 ENSG00000172543 OTTHUMG00000166663 uc001ogc.2 AF055903 NM_001335 CCDS8117 P56202 "9108299|9675123" MGI:1338045 RGD:1309354 602364 C01.037 HGNC:2546 "ENST00000307886.8|NM_001335.4" +HGNC:2547 CTSZ cathepsin Z protein-coding gene gene with protein product Approved 20q13.32 20q13.32 CTSX "cathepsin X|carboxypeptidase LB|cathepsin IV|cathepsin B2|cathepsin Y|cathepsin Z1|cysteine-type carboxypeptidase|lysosomal carboxypeptidase B" Cathepsins 470 1998-08-27 2014-11-19 1522 ENSG00000101160 OTTHUMG00000032858 uc002yai.3 AF032906 NM_001336 CCDS13474 Q9UBR2 9642240 MGI:1891190 RGD:708479 603169 C01.013 objectId:2354 HGNC:2547 "ENST00000217131.6|NM_001336.4" +HGNC:3338 CTTN cortactin protein-coding gene gene with protein product Approved 11q13.3 11q13.3 EMS1 ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate) 1994-01-07 2004-06-09 2004-06-08 2016-10-05 2017 ENSG00000085733 OTTHUMG00000134307 uc001opw.5 AJ288897 NM_138565 "CCDS41680|CCDS8197|CCDS53676" Q14247 7685625 MGI:99695 RGD:619839 164765 HGNC:3338 "ENST00000301843.13|NM_005231.4" +HGNC:55592 CTTN-DT CTTN divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Divergent transcripts 1990 2021-04-28 2021-04-28 121233926 ENSG00000246889 XR_001748289 +HGNC:15679 CTTNBP2 cortactin binding protein 2 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 "KIAA1758|Orf4" "CORTBP2|C7orf8" CORTBP2, C7orf8 "Ankyrin repeat domain containing|STRIPAK complex" "403|1371" 2001-05-09 2004-06-09 2004-06-08 2017-12-06 83992 ENSG00000077063 OTTHUMG00000022880 uc003vjf.4 NM_033427 CCDS5774 Q8WZ74 11707066 MGI:1353467 RGD:628691 609772 470148 HGNC:15679 "ENST00000160373.8|NM_033427.3" HGNC:15679 +HGNC:25330 CTTNBP2NL CTTNBP2 N-terminal like protein-coding gene gene with protein product Approved 1p13.2 01p13.2 DKFZp547A023 STRIPAK complex 1371 2005-08-12 2014-11-19 55917 ENSG00000143079 OTTHUMG00000011154 uc001ebx.4 AB037854 NM_018704 CCDS845 Q9P2B4 10718198 MGI:1933137 RGD:1310822 615100 HGNC:25330 "ENST00000271277.11|NM_018704.3" +HGNC:29590 CTU1 cytosolic thiouridylase subunit 1 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "MGC17332|NCS6" ATPBD3 "ATP binding domain 3|cytosolic thiouridylase subunit 1 homolog (S. pombe)" 2005-10-24 2009-08-19 2013-05-31 2020-01-06 90353 ENSG00000142544 OTTHUMG00000182910 uc010eop.4 NM_145232 CCDS12824 Q7Z7A3 19017811 MGI:2385277 RGD:1308740 612694 HGNC:29590 "ENST00000421832.3|NM_145232.4" +HGNC:28005 CTU2 cytosolic thiouridylase subunit 2 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 NCS2 Cytoplasmic tRNA 2-thiolation protein 2 C16orf84 "chromosome 16 open reading frame 84|cytosolic thiouridylase subunit 2 homolog (S. pombe)" 2007-11-28 2009-08-19 2016-03-21 2021-05-26 348180 ENSG00000174177 OTTHUMG00000173417 uc002fln.4 BC021056 NM_001012762 "CCDS32506|CCDS82026|CCDS45545" Q2VPK5 19017811 MGI:1914215 RGD:1562594 617057 HGNC:28005 "ENST00000453996.7|NM_001012759.3" HGNC:28005 +HGNC:31108 CTXN1 cortexin 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ25968 2004-02-16 2015-08-24 404217 ENSG00000178531 OTTHUMG00000182480 uc002miy.5 AK098834 NM_206833 CCDS12191 P60606 MGI:88566 RGD:2449 600135 HGNC:31108 "ENST00000318978.6|NM_206833.4" +HGNC:31109 CTXN2 cortexin 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 2004-02-16 2015-08-24 399697 ENSG00000233932 OTTHUMG00000172152 uc001zwm.2 BK004876 NM_001145668 CCDS45254 P0C2S0 MGI:2139444 RGD:2311261 HGNC:31109 "ENST00000417307.3|NM_001145668.2" +HGNC:55426 CTXN2-AS1 CTXN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 Antisense RNAs 1987 2021-01-08 2021-01-08 105370807 ENSG00000259235 XR_002957764 +HGNC:31110 CTXN3 cortexin 3 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 2004-02-16 2018-11-15 613212 ENSG00000205279 OTTHUMG00000163285 uc003kul.5 AB219764 NM_001048252 CCDS34221 Q4LDR2 MGI:3642816 RGD:2300148 618746 HGNC:31110 "ENST00000379445.8|NM_001048252.3" +HGNC:50507 CTXND1 cortexin domain containing 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 LINC01314 long intergenic non-protein coding RNA 1314 2014-05-13 2017-06-23 2017-06-23 2017-06-23 100996492 ENSG00000259417 OTTHUMG00000172080 NM_001352888 CCDS86481 A0A1B0GTU2 MGI:3780284 HGNC:50507 "ENST00000560778.3|NM_001352888.2" +HGNC:53440 CTXND2 cortexin domain containing 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 2017-06-23 2018-05-11 100996521 ENSG00000283324 OTTHUMG00000191721 NM_001384189 A0A1B0GV90 MGI:1914904 HGNC:53440 +HGNC:2548 CUBN cubilin protein-coding gene gene with protein product Approved 10p13 10p13 "IFCR|gp280" intrinsic factor-cobalamin receptor MGA1 cubilin (intrinsic factor-cobalamin receptor) 1998-11-02 2015-12-04 2021-05-26 8029 ENSG00000107611 OTTHUMG00000017741 uc001ioo.4 AF034611 NM_001081 CCDS7113 O60494 "9572993|9478979" MGI:1931256 RGD:68355 LRG_540|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_540.xml 602997 120903 HGNC:2548 "ENST00000377833.10|NM_001081.4" HGNC:2548 +HGNC:44983 CUBNP1 cubilin pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 cubilin (intrinsic factor-cobalamin receptor) pseudogene 1 2013-01-03 2016-06-27 2016-06-27 728064 ENSG00000231009 OTTHUMG00000018016 NG_023216 PGOHUM00000238433 HGNC:44983 +HGNC:44984 CUBNP2 cubilin pseudogene 2 pseudogene pseudogene Approved 10q11.21 10q11.21 cubilin (intrinsic factor-cobalamin receptor) pseudogene 2 2013-01-03 2016-06-27 2016-06-27 100289280 ENSG00000234993 OTTHUMG00000018078 PGOHUM00000238447 HGNC:44984 +HGNC:44985 CUBNP3 cubilin pseudogene 3 pseudogene pseudogene Approved 10q11.21 10q11.21 cubilin (intrinsic factor-cobalamin receptor) pseudogene 3 2013-01-03 2016-06-27 2016-06-27 100421634 ENSG00000235690 OTTHUMG00000018073 NG_025491 PGOHUM00000238761 HGNC:44985 +HGNC:31350 CUEDC1 CUE domain containing 1 protein-coding gene gene with protein product Approved 17q22 17q22 2004-03-04 2016-10-05 404093 ENSG00000180891 OTTHUMG00000178775 uc002ive.2 AK000746 NM_017949 CCDS11599 Q9NWM3 MGI:2144281 RGD:1304861 HGNC:31350 "ENST00000577830.6|NM_001271875.2" +HGNC:28352 CUEDC2 CUE domain containing 2 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 MGC2491 C10orf66 chromosome 10 open reading frame 66 2004-01-28 2004-03-05 2004-03-04 2015-08-24 79004 ENSG00000107874 OTTHUMG00000018958 uc001kvn.3 BC000262 NM_024040 CCDS41566 Q9H467 24685480 MGI:1914366 RGD:1308096 614142 HGNC:28352 "ENST00000369937.5|NM_024040.3" +HGNC:2551 CUL1 cullin 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "Cullins|SCF complex core subunits" "1032|2126" 1998-10-29 2021-05-26 8454 ENSG00000055130 OTTHUMG00000152776 uc010lpg.4 U58087 NM_003592 CCDS34772 Q13616 8681378 MGI:1349658 RGD:1308157 LRG_1407|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1407.xml 603134 HGNC:2551 "ENST00000325222.9|NM_003592.3" +HGNC:49567 CUL1P1 cullin 1 pseudogene 1 pseudogene pseudogene Approved 5q23.2 05q23.2 2014-01-15 2014-01-15 100288463 ENSG00000251032 OTTHUMG00000163286 NG_021863 PGOHUM00000235391 HGNC:49567 +HGNC:2552 CUL2 cullin 2 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "Cullins|MicroRNA protein coding host genes" "1032|1691" 1998-10-29 2016-10-05 8453 ENSG00000108094 OTTHUMG00000017950 uc001ixw.3 U83410 NM_003591 "CCDS55709|CCDS7179|CCDS73086" Q13617 8681378 MGI:1918995 RGD:1310644 603135 HGNC:2552 "ENST00000374749.8|NM_003591.4" +HGNC:2553 CUL3 cullin 3 protein-coding gene gene with protein product Approved 2q36.2 02q36.2 Cullins 1032 1998-10-29 2021-05-26 8452 ENSG00000036257 OTTHUMG00000133167 uc002vny.4 U58089 NM_001257197 "CCDS58751|CCDS2462" Q13618 "8681378|17192413" MGI:1347360 RGD:1308190 603136 303805 HGNC:2553 "ENST00000264414.9|NM_003590.5" HGNC:2553 +HGNC:2554 CUL4A cullin 4A protein-coding gene gene with protein product Approved 13q34 13q34 "Cullins|MicroRNA protein coding host genes" "1032|1691" 1998-10-29 2015-08-28 8451 ENSG00000139842 OTTHUMG00000017384 uc021rmv.3 U58090 NM_003589 "CCDS73604|CCDS86363|CCDS41908|CCDS9533" Q13619 8681378 MGI:1914487 RGD:1563853 603137 HGNC:2554 "ENST00000375440.9|NM_001008895.4" +HGNC:44027 CUL4AP1 cullin 4A pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 2012-05-28 2012-05-28 100129008 ENSG00000248139 OTTHUMG00000161138 NG_022031 PGOHUM00000245668 HGNC:44027 +HGNC:2555 CUL4B cullin 4B protein-coding gene gene with protein product Approved Xq24 Xq24 Cullins 1032 1998-10-29 2021-05-26 8450 ENSG00000158290 OTTHUMG00000022302 uc004esw.4 U58091 NM_003588 "CCDS35379|CCDS43987|CCDS83487" Q13620 8681378 MGI:1919834 RGD:1564494 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CUL4B 300304 120908 HGNC:2555 "ENST00000371322.11|NM_001079872.2" HGNC:2555 +HGNC:2556 CUL5 cullin 5 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 VACM-1 Cullins 1032 1998-12-23 2015-08-24 8065 ENSG00000166266 OTTHUMG00000166369 uc001pjv.4 X81882 NM_003478 CCDS31668 Q93034 "8681378|9037604" MGI:1922967 RGD:621742 601741 HGNC:2556 "ENST00000393094.7|NM_003478.6" +HGNC:21024 CUL7 cullin 7 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 dJ20C7.5 KIAA0076 KIAA0076 Cullins 1032 2003-11-21 2004-03-22 2004-03-22 2021-05-26 9820 ENSG00000044090 OTTHUMG00000014718 uc003otq.4 BC033647 NM_014780 CCDS4881 Q14999 "12481031|12904573" MGI:1913765 RGD:1587048 609577 120910 HGNC:21024 "ENST00000265348.9|NM_014780.5" HGNC:21024 +HGNC:15982 CUL9 cullin 9 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "H7AP1|KIAA0708|PARC" "parkin-like cytoplasmic p53 binding protein|p53-associated parkin-like cytoplasmic protein" "Cullins|RBR E3 ubiquitin ligases|Armadillo like helical domain containing" "1032|1391|1492" 2009-01-07 2014-11-19 23113 ENSG00000112659 OTTHUMG00000014723 uc003ouk.4 AB014608 NM_015089 CCDS4890 Q8IWT3 "17332328|10521492|12526791" MGI:1925559 RGD:1562008 607489 HGNC:15982 "ENST00000252050.9|NM_015089.4" +HGNC:54490 CUPIN1P cupin superfamily member 1, pseudogene pseudogene pseudogene Approved 18q21.2 18q21.2 2019-10-22 2020-01-21 116435282 ENSG00000283613 OTTHUMG00000191730 NG_067176 +HGNC:21101 CUTA cutA divalent cation tolerance homolog protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "C6orf82|ACHAP" "chromosome 6 open reading frame 82|acetylcholinesterase-associated protein|cutA divalent cation tolerance homolog (E. coli)" 2003-05-19 2006-02-15 2016-07-19 2016-07-19 51596 ENSG00000112514 OTTHUMG00000031254 uc003oen.2 AF106943 NM_015921 "CCDS4779|CCDS34433" O60888 "22351782|25557959" MGI:1914925 RGD:1303306 616953 HGNC:21101 "ENST00000488034.6|NM_001014840.2" +HGNC:27367 CUTALP cutA divalent cation tolerance like, pseudogene pseudogene pseudogene Approved 9q33.2 09q33.2 PSMD5-AS1 "PSMD5 antisense RNA 1 (head to head)|cutA divalent cation tolerance homolog-like, pseudogene" 2013-06-07 2017-09-27 2019-12-17 2019-12-17 253039 ENSG00000226752 OTTHUMG00000020572 NR_024408 12477932 MGI:1925246 PSMD5-AS1 HGNC:27367 +HGNC:24271 CUTC cutC copper transporter protein-coding gene gene with protein product Approved 10q24.2 10q24.2 CGI-32 cutC copper transporter homolog (E. coli) 2004-04-20 2013-07-31 2016-10-05 51076 ENSG00000119929 OTTHUMG00000018889 uc001kqd.5 AF132966 NM_015960 CCDS7483 Q9NTM9 16182249 MGI:1913638 RGD:1304966 610101 HGNC:24271 "ENST00000370476.10|NM_015960.3" +HGNC:2557 CUX1 cut like homeobox 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CDP|CDP1|CUX|CUT|Clox|CDP/Cut|CDP/Cux|Cux/CDP|CASP|GOLIM6" "golgi integral membrane protein 6|CUX1 gene Alternatively Spliced Product" CUTL1 "cut (Drosophila)-like 1 (CCAAT displacement protein)|cut-like 1, CCAAT displacement protein (Drosophila)|cut-like homeobox 1" "CUT class homeoboxes and pseudogenes|Golgins" "527|1084" 1992-12-13 2007-11-07 2016-03-08 2021-05-26 1523 ENSG00000257923 OTTHUMG00000157129 uc003uyx.4 M74099 NM_001913 "CCDS5721|CCDS56500|CCDS5720|CCDS59071|CCDS56498|CCDS56499|CCDS47672" "P39880|Q13948" "8468066|9799793|15004235" MGI:88568 RGD:620618 LRG_1123|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1123.xml CUX1 116896 8526 470150 HGNC:2557 "ENST00000292535.12|NM_181552.4" HGNC:2557 +HGNC:19347 CUX2 cut like homeobox 2 protein-coding gene gene with protein product Approved 12q24.11-q24.12 12q24.11-q24.12 "KIAA0293|CDP2" CUTL2 "cut-like 2 (Drosophila)|cut-like homeobox 2" "CUT class homeoboxes and pseudogenes|MicroRNA protein coding host genes" "527|1691" 2002-10-08 2007-11-07 2016-03-08 2021-05-26 23316 ENSG00000111249 OTTHUMG00000169546 uc001tsa.4 AB006631 NM_015267 CCDS41837 O14529 MGI:107321 RGD:1305967 610648 8527 470152 HGNC:19347 "ENST00000261726.11|NM_015267.4" HGNC:19347 +HGNC:33694 CUX2P1 cut like homeobox 2 pseudogene 1 pseudogene pseudogene Approved 10p14 10p14 cut-like homeobox 2 pseudogene 1 CUT class homeoboxes and pseudogenes 527 2007-11-07 2016-03-08 2016-03-08 100126596 ENSG00000272436 OTTHUMG00000185574 NG_028748 8889 PGOHUM00000289739 HGNC:33694 +HGNC:33695 CUX2P2 cut like homeobox 2 pseudogene 2 pseudogene pseudogene Approved 4q32.1 04q32.1 cut-like homeobox 2 pseudogene 2 CUT class homeoboxes and pseudogenes 527 2007-11-07 2016-03-08 2016-03-08 100126597 8888 +HGNC:17937 CUZD1 CUB and zona pellucida like domains 1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "ERG-1|UO-44" CUB and zona pellucida-like domains 1 2003-11-18 2016-02-01 2016-02-01 50624 ENSG00000138161 OTTHUMG00000019195 uc001lgs.4 AF305835 NM_022034 CCDS7631 Q86UP6 10542259 MGI:1202881 RGD:619771 616644 HGNC:17937 "ENST00000392790.6|NM_022034.6" HGNC:17937 +HGNC:26939 CWC15 CWC15 spliceosome associated protein homolog protein-coding gene gene with protein product Approved 11q21 11q21 "C11orf5|HSPC148|Cwf15|AD002" "CWC15 homolog (S. cerevisiae)|CWC15 spliceosome-associated protein homolog (S. cerevisiae)|CWC15 spliceosome-associated protein" "NineTeen complex|NTC associated proteins|Spliceosomal C complex" "1361|1498|1510" 2007-08-02 2016-08-08 2016-08-08 51503 ENSG00000150316 OTTHUMG00000181616 uc031ybh.1 AF161497 NM_016403 CCDS73369 Q9P013 "10873569|11884590" MGI:1913320 RGD:1310669 HGNC:26939 "ENST00000279839.8|NM_016403.4" +HGNC:29322 CWC22 CWC22 spliceosome associated protein homolog protein-coding gene gene with protein product Approved 2q31.3 02q31.3 "KIAA1604|EIF4GL|fSAPb|NCM" functional spliceosome-associated protein b "CWC22 spliceosome-associated protein homolog (S. cerevisiae)|CWC22 spliceosome-associated protein|CWC22 homolog, spliceosome-associated protein" "NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex|MIF4G domain containing proteins" "1498|1508|1510|1516|2128" 2008-11-27 2016-08-08 2016-08-08 57703 ENSG00000163510 OTTHUMG00000154244 uc010frh.2 NM_020943 CCDS46465 Q9HCG8 "9136012|23236153" MGI:2136773 RGD:1565385 615186 HGNC:29322 "ENST00000410053.8|NM_020943.3" +HGNC:25989 CWC25 CWC25 spliceosome associated protein homolog protein-coding gene gene with protein product Approved 17q12 17q12 FLJ20291 CCDC49 "coiled-coil domain containing 49|CWC25 spliceosome-associated protein homolog (S. cerevisiae)" "NTC associated proteins|Spliceosomal Bact complex" "1498|1508" 2005-12-19 2010-01-26 2016-06-29 2016-06-29 54883 ENSG00000273559 OTTHUMG00000188505 uc002hqu.5 AK000298 NM_017748 CCDS45663 Q9NXE8 19941820 MGI:1914730 RGD:1305258 HGNC:25989 "ENST00000614790.5|NM_017748.5" +HGNC:10664 CWC27 CWC27 spliceosome associated cyclophilin protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "NY-CO-10|SDCCAG-10" SDCCAG10 "serologically defined colon cancer antigen 10|CWC27 spliceosome-associated protein homolog (S. cerevisiae)|CWC27 spliceosome-associated protein homolog|CWC27 spliceosome associated protein homolog" "Cyclophilin peptidylprolyl isomerases|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "909|1498|1508|1510|1516" 1999-07-23 2010-01-26 2019-04-09 2021-05-26 10283 ENSG00000153015 OTTHUMG00000074069 uc003jtn.2 AF039692 NM_005869 "CCDS3982|CCDS75252" Q6UX04 "9610721|19941820|28285769" MGI:1914535 RGD:1310697 617170 HGNC:10664 "ENST00000381070.8|NM_005869.4" HGNC:10664 +HGNC:25613 CWF19L1 CWF19 like cell cycle control factor 1 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FLJ10998|hDrn1" human Dbr1 associated ribonuclease 1 CWF19 like 1, cell cycle control (S. pombe) Small nucleolar RNA protein coding host genes 1835 2004-03-08 2018-06-29 2019-06-06 55280 ENSG00000095485 OTTHUMG00000018901 uc001kqq.1 AK001860 NM_018294 CCDS7489 Q69YN2 "14702039|25671812" MGI:1919752 RGD:1304716 616120 457556 HGNC:25613 "ENST00000354105.10|NM_018294.6" HGNC:25613 +HGNC:26508 CWF19L2 CWF19 like cell cycle control factor 2 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 FLJ32343 CWF19 like 2, cell cycle control (S. pombe) 2004-03-08 2018-06-29 2018-06-29 143884 ENSG00000152404 OTTHUMG00000152975 uc010rvp.3 AK056905 NM_152434 CCDS8336 Q2TBE0 14702039 MGI:1918023 RGD:1310083 HGNC:26508 "ENST00000282251.10|NM_152434.3" +HGNC:26133 CWH43 cell wall biogenesis 43 C-terminal homolog protein-coding gene gene with protein product Approved 4p11 04p11 "FLJ21511|CWH43-C|PGAP2IP" cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 2009-07-28 2015-07-02 2018-02-20 80157 ENSG00000109182 OTTHUMG00000128627 uc003gyv.4 NM_025087 "CCDS3486|CCDS68697" Q9H720 "17714445|17761529" MGI:2444131 RGD:1310958 618561 HGNC:26133 "ENST00000226432.9|NM_025087.3" +HGNC:10647 CX3CL1 C-X3-C motif chemokine ligand 1 protein-coding gene gene with protein product Approved 16q21 16q21 "NTN|C3Xkine|ABCD-3|CXC3C|CXC3" "fractalkine|neurotactin" SCYD1 "small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)|chemokine (C-X3-C motif) ligand 1" Chemokine ligands 483 1997-08-22 2002-08-23 2016-03-01 2020-03-10 6376 ENSG00000006210 OTTHUMG00000133469 uc002eli.4 U84487 NM_002996 CCDS10779 P78423 "9177350|9024663" MGI:1097153 RGD:620458 601880 ligandId:856 HGNC:10647 "ENST00000006053.7|NM_002996.6" +HGNC:2558 CX3CR1 C-X3-C motif chemokine receptor 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "CMKDR1|V28|CCRL1" "GPR13|CMKBRL1" "chemokine (C-X3-C) receptor 1|chemokine (C-X3-C motif) receptor 1" C-X-3-C motif chemokine receptors 1093 1998-01-12 2016-03-14 2016-10-05 1524 ENSG00000168329 OTTHUMG00000156249 uc021wwb.2 BC028078 NM_001337 "CCDS43069|CCDS54571" P49238 "9726990|7646814" MGI:1333815 RGD:620137 601470 260326 objectId:74 HGNC:2558 "ENST00000399220.3|NM_001337.4" +HGNC:2559 CXADR CXADR Ig-like cell adhesion molecule protein-coding gene gene with protein product Approved 21q21.1 21q21.1 CAR "coxsackie virus and adenovirus receptor|CXADR, Ig-like cell adhesion molecule" "V-set domain containing|IgCAM CXADR-related subfamily" "590|1414" 1998-03-24 2019-01-25 2019-01-25 1525 ENSG00000154639 OTTHUMG00000074508 uc002yki.4 Y07593 NM_001207063 "CCDS56205|CCDS56206|CCDS33519|CCDS56204|CCDS56207" P78310 "9036860|9096397|20813955" MGI:1201679 RGD:619794 602621 HGNC:2559 "ENST00000284878.12|NM_001338.5" +HGNC:23770 CXADRP1 CXADR pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 "CAR|CXADRP" coxsackie virus and adenovirus receptor pseudogene 1 2008-01-31 2017-05-02 2017-05-02 653108 ENSG00000214319 OTTHUMG00000074204 NG_008739 PGOHUM00000258119 HGNC:23770 +HGNC:33973 CXADRP2 CXADR pseudogene 2 pseudogene pseudogene Approved 15q11.2 15q11.2 coxsackie virus and adenovirus receptor pseudogene 2 2008-01-31 2017-05-02 2017-10-25 646243 ENSG00000258712 OTTHUMG00000171728 NR_024387 PGOHUM00000292809 HGNC:33973 +HGNC:33974 CXADRP3 CXADR pseudogene 3 pseudogene pseudogene Approved 18p11.21 18p11.21 coxsackie virus and adenovirus receptor pseudogene 3 2008-01-31 2017-05-02 2017-05-02 440224 ENSG00000265766 OTTHUMG00000178700 uc010xai.3 NR_024076 PGOHUM00000234879 HGNC:33974 +HGNC:4602 CXCL1 C-X-C motif chemokine ligand 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB1|GROa|MGSA-a|NAP-3" melanoma growth stimulating activity, alpha "MGSA|GRO1|FSP" "GRO1 oncogene (melanoma growth stimulating activity, alpha)|fibroblast secretory protein|chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)" Chemokine ligands 483 1988-08-11 2002-08-23 2016-03-01 2016-10-24 2919 ENSG00000163739 OTTHUMG00000160866 uc003hhh.4 J03561 NM_001511 CCDS47074 P09341 2217207 "MGI:1340094|MGI:3037818" "RGD:619869|RGD:621812" 155730 ligandId:819 HGNC:4602 "ENST00000395761.4|NM_001511.4" +HGNC:10641 CXCL1P1 C-X-C motif chemokine ligand 1 pseudogene 1 pseudogene pseudogene Approved 4q13.3 04q13.3 "MGSAP|GROP|GRO1P" "SCYB1P|CXCL1P" "small inducible cytokine B subfamily (Cys-X-Cys motif), member 1 (MGSA/GRO), pseudogene|chemokine (C-X-C motif) ligand 1 pseudogene" 2000-03-29 2016-03-01 2016-03-01 2016-03-01 50612 ENSG00000250339 OTTHUMG00000160868 U88432 NG_001275 9524820 PGOHUM00000245590 HGNC:10641 +HGNC:4603 CXCL2 C-X-C motif chemokine ligand 2 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB2|GROb|MIP-2a|MGSA-b|CINC-2a" GRO2 "GRO2 oncogene|chemokine (C-X-C motif) ligand 2" Chemokine ligands 483 1991-05-21 2002-08-23 2016-03-01 2016-10-24 2920 ENSG00000081041 OTTHUMG00000160865 uc003hhm.5 M36820 NM_002089 CCDS34008 P19875 2217207 "MGI:108068|MGI:1340094|MGI:3037818" RGD:70069 139110 ligandId:827 HGNC:4603 "ENST00000508487.3|NM_002089.4" +HGNC:4604 CXCL3 C-X-C motif chemokine ligand 3 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB3|GROg|MIP-2b|CINC-2b" GRO3 "GRO3 oncogene|chemokine (C-X-C motif) ligand 3" Chemokine ligands 483 1991-05-21 2002-08-23 2016-03-01 2016-10-05 2921 ENSG00000163734 OTTHUMG00000160861 uc003hhl.5 M36821 NM_002090 CCDS34007 P19876 2217207 "MGI:1340094|MGI:3037818" 139111 ligandId:828 HGNC:4604 "ENST00000296026.4|NM_002090.3" +HGNC:10642 CXCL5 C-X-C motif chemokine ligand 5 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 ENA-78 SCYB5 "small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)|chemokine (C-X-C motif) ligand 5" Chemokine ligands 483 1996-09-03 2002-08-23 2016-03-01 2016-10-24 6374 ENSG00000163735 OTTHUMG00000160871 uc003hhk.5 X78686 NM_002994 CCDS34006 P42830 7929219 MGI:1096868 600324 ligandId:829 HGNC:10642 "ENST00000296027.5|NM_002994.5" +HGNC:10643 CXCL6 C-X-C motif chemokine ligand 6 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "GCP-2|CKA-3" granulocyte chemotactic protein 2 SCYB6 "small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)|chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)|chemokine (C-X-C motif) ligand 6" Chemokine ligands 483 1997-10-09 2002-08-23 2016-03-01 2016-03-01 6372 ENSG00000124875 OTTHUMG00000130010 uc003hhf.4 U83303 NM_002993 CCDS3560 P80162 9465307 MGI:1096868 RGD:708540 138965 ligandId:820 HGNC:10643 "ENST00000226317.10|NM_002993.4" +HGNC:6025 CXCL8 C-X-C motif chemokine ligand 8 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB8|LUCT|LECT|MDNCF|TSG-1|IL-8|NAP-1|3-10C|MONAP|AMCF-I|LYNAP|NAF|b-ENAP|GCP-1|K60|GCP1|NAP1" "neutrophil-activating peptide 1|granulocyte chemotactic protein 1|monocyte-derived neutrophil chemotactic factor|lung giant cell carcinoma-derived chemotactic protein|tumor necrosis factor-induced gene 1|monocyte-derived neutrophil-activating peptide|lymphocyte derived neutrophil activating peptide|beta endothelial cell-derived neutrophil activating peptide|alveolar macrophage chemotactic factor I" IL8 "interleukin 8|chemokine (C-X-C motif) ligand 8" "Chemokine ligands|Interleukins" "483|601" 1989-06-30 2014-04-10 2016-03-01 2016-10-05 3576 ENSG00000169429 OTTHUMG00000151316 Y00787 NM_000584 "CCDS34005|CCDS87231" P10145 "1427896|11178128" 146930 ligandId:821 HGNC:6025 "ENST00000307407.8|NM_000584.4" +HGNC:7098 CXCL9 C-X-C motif chemokine ligand 9 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "SCYB9|Humig|crg-10" "CMK|MIG" "monokine induced by gamma interferon|chemokine (C-X-C motif) ligand 9" Chemokine ligands 483 1996-05-28 2002-08-23 2016-03-01 2016-10-05 4283 ENSG00000138755 OTTHUMG00000160889 uc003hjh.2 X72755 NM_002416 CCDS34014 Q07325 "8476424|9730616" MGI:1352449 RGD:628798 601704 ligandId:837 HGNC:7098 "ENST00000264888.6|NM_002416.3" +HGNC:10637 CXCL10 C-X-C motif chemokine ligand 10 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "IFI10|IP-10|crg-2|mob-1|C7|gIP-10" "INP10|SCYB10" "small inducible cytokine subfamily B (Cys-X-Cys), member 10|chemokine (C-X-C motif) ligand 10" Chemokine ligands 483 1999-12-09 2002-08-23 2016-03-01 2016-10-05 3627 ENSG00000169245 OTTHUMG00000160887 uc003hjl.5 X02530 NM_001565 CCDS43240 P02778 "2437586|3925348" MGI:1352450 RGD:620209 147310 ligandId:835 HGNC:10637 "ENST00000306602.3|NM_001565.4" +HGNC:10638 CXCL11 C-X-C motif chemokine ligand 11 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "H174|b-R1|I-TAC|IP-9" "SCYB9B|SCYB11" "small inducible cytokine subfamily B (Cys-X-Cys), member 11|chemokine (C-X-C motif) ligand 11" Chemokine ligands 483 1998-06-23 2002-08-23 2016-03-01 2016-10-05 6373 ENSG00000169248 OTTHUMG00000130101 uc062xkv.1 U66096 NM_001302123 CCDS3574 O14625 9730616 MGI:1860203 RGD:727827 604852 ligandId:836 HGNC:10638 "ENST00000306621.8|NM_005409.5" +HGNC:10672 CXCL12 C-X-C motif chemokine ligand 12 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "SCYB12|SDF-1a|SDF-1b|PBSF|TLSF-a|TLSF-b|TPAR1" "SDF1A|SDF1B|SDF1" "stromal cell-derived factor 1|chemokine (C-X-C motif) ligand 12" Chemokine ligands 483 1994-11-30 2002-08-23 2016-03-01 2016-10-05 6387 ENSG00000107562 OTTHUMG00000018054 uc001jbi.4 L36033 NM_000609 "CCDS60518|CCDS7207|CCDS53527|CCDS31186|CCDS44373" P48061 7490086 MGI:103556 RGD:3651 600835 ligandId:8531 HGNC:10672 "ENST00000343575.11|NM_199168.4" +HGNC:10639 CXCL13 C-X-C motif chemokine ligand 13 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "BLC|BCA-1|BLR1L|ANGIE|ANGIE2" B-cell chemoattractant SCYB13 "small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)|chemokine (C-X-C motif) ligand 13" Chemokine ligands 483 2000-09-05 2002-08-23 2016-03-01 2016-10-05 10563 ENSG00000156234 OTTHUMG00000130201 uc003hkr.5 AJ002211 NM_001371558 CCDS3582 O43927 "9463416|9486651" MGI:1888499 RGD:1564256 605149 ligandId:3645 HGNC:10639 "ENST00000682537.1|NM_001371558.1" +HGNC:10640 CXCL14 C-X-C motif chemokine ligand 14 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "BRAK|NJAC|bolekine|Kec|MIP-2g|BMAC|KS1" breast and kidney SCYB14 "small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)|chemokine (C-X-C motif) ligand 14" Chemokine ligands 483 1999-07-30 2002-08-23 2016-03-01 2016-10-05 9547 ENSG00000145824 OTTHUMG00000129139 uc003lay.4 AF073957 NM_004887 CCDS4188 O95715 10049774 MGI:1888514 RGD:1307406 604186 ligandId:3680 HGNC:10640 "ENST00000512158.6|NM_004887.5" +HGNC:16642 CXCL16 C-X-C motif chemokine ligand 16 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "SR-PSOX|CXCLG16|SRPSOX" CXC chemokine ligand 16 chemokine (C-X-C motif) ligand 16 "Chemokine ligands|Scavenger receptors" "483|1253" 2001-09-21 2016-03-01 2016-10-05 58191 ENSG00000161921 OTTHUMG00000090761 uc002fyr.6 AF275260 NM_022059 CCDS11052 Q9H2A7 "11017100|11060282" MGI:1932682 RGD:1562928 605398 ligandId:855 HGNC:16642 "ENST00000293778.12|NM_001386809.1" +HGNC:19232 CXCL17 C-X-C motif chemokine ligand 17 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "Dcip1|UNQ473|DMC|VCC1" chemokine (C-X-C motif) ligand 17 Chemokine ligands 483 2007-10-15 2016-03-01 2016-03-01 284340 ENSG00000189377 OTTHUMG00000182817 uc002otu.4 NM_198477 CCDS12608 Q6UXB2 17201934 MGI:2387642 RGD:1304717 611387 ligandId:6479 HGNC:19232 "ENST00000601181.6|NM_198477.3" +HGNC:6026 CXCR1 C-X-C motif chemokine receptor 1 protein-coding gene gene with protein product Approved 2q35 02q35 "CKR-1|CDw128a|CD181" "CMKAR1|IL8RA" "interleukin 8 receptor, alpha|chemokine (C-X-C motif) receptor 1" "CD molecules|Interleukin receptors|C-X-C motif chemokine receptors" "471|602|1094" 1992-11-09 2009-11-25 2016-03-14 2016-03-14 3577 ENSG00000163464 OTTHUMG00000133108 uc002vhc.4 U11870 NM_000634 CCDS2409 P25024 "1303245|1427896" MGI:2448715 RGD:2905 146929 objectId:68 CD181 HGNC:6026 "ENST00000295683.3|NM_000634.3" +HGNC:6027 CXCR2 C-X-C motif chemokine receptor 2 protein-coding gene gene with protein product Approved 2q35 02q35 "CMKAR2|CD182" IL8RB "interleukin 8 receptor, beta|chemokine (C-X-C motif) receptor 2" "CD molecules|Interleukin receptors|C-X-C motif chemokine receptors" "471|602|1094" 1991-08-19 2009-11-25 2016-03-14 2016-03-14 3579 ENSG00000180871 OTTHUMG00000133107 uc002vha.3 U11869 NM_001557 CCDS2408 P25025 1427896 MGI:105303 RGD:2906 146928 431609 objectId:69 CD182 HGNC:6027 "ENST00000318507.7|NM_001557.4" HGNC:6027 +HGNC:6028 CXCR2P1 C-X-C motif chemokine receptor 2 pseudogene 1 pseudogene pseudogene Approved 2q35 02q35 "IL8RBP|CXCR2P" "interleukin 8 receptor, beta pseudogene|chemokine (C-X-C motif) receptor 2 pseudogene|chemokine (C-X-C motif) receptor 2 pseudogene 1" 1992-11-27 2010-04-14 2016-03-14 2016-03-14 3580 ENSG00000229754 OTTHUMG00000155244 M98335 NR_002712 "1427896|1303245" PGOHUM00000240523 HGNC:6028 +HGNC:4540 CXCR3 C-X-C motif chemokine receptor 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "CKR-L2|CMKAR3|IP10-R|MigR|CD183" GPR9 "G protein-coupled receptor 9|chemokine (C-X-C motif) receptor 3" "CD molecules|C-X-C motif chemokine receptors" "471|1094" 1994-11-01 2002-08-23 2016-03-14 2016-10-05 2833 ENSG00000186810 OTTHUMG00000033326 uc004eaf.3 U32674 NM_001142797 "CCDS48135|CCDS14416" P49682 "8666380|9064356" MGI:1277207 RGD:621528 300574 objectId:70 CD183 HGNC:4540 "ENST00000373693.4|NM_001504.2" +HGNC:2561 CXCR4 C-X-C motif chemokine receptor 4 protein-coding gene gene with protein product Approved 2q22.1 02q22.1 "LESTR|NPY3R|HM89|NPYY3R|D2S201E|fusin|HSY3RR|NPYR|CD184" "chemokine (C-X-C motif), receptor 4 (fusin)|chemokine (C-X-C motif) receptor 4" "CD molecules|C-X-C motif chemokine receptors" "471|1094" 1998-09-17 2016-03-14 2021-05-26 7852 ENSG00000121966 OTTHUMG00000153583 uc002tuy.3 AF005058 NM_001008540 "CCDS33295|CCDS46420" P61073 "9599023|9379028" MGI:109563 RGD:620465 "CXCR4base: Mutation registry for WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis)|http://structure.bmc.lu.se/idbase/CXCR4base/|LRG_51|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_51.xml" CXCR4 162643 120914 objectId:71 CD184 HGNC:2561 "ENST00000241393.4|NM_003467.3" HGNC:2561 +HGNC:1060 CXCR5 C-X-C motif chemokine receptor 5 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "MDR15|CD185" BLR1 "Burkitt lymphoma receptor 1, GTP-binding protein|Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)|chemokine (C-X-C motif) receptor 5" "CD molecules|C-X-C motif chemokine receptors" "471|1094" 1993-06-29 2008-01-22 2016-03-14 2020-09-17 643 ENSG00000160683 OTTHUMG00000166345 uc001pue.5 X68829 NM_001716 CCDS8402 P32302 1425907 MGI:103567 RGD:62010 601613 objectId:72 CD185 HGNC:1060 "ENST00000292174.5|NM_001716.5" +HGNC:16647 CXCR6 C-X-C motif chemokine receptor 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "TYMSTR|STRL33|BONZO|CD186" chemokine (C-X-C motif) receptor 6 "CD molecules|C-X-C motif chemokine receptors" "471|1094" 2002-08-23 2016-03-14 2016-10-05 10663 ENSG00000172215 OTTHUMG00000133448 uc062izf.1 AF007545 NM_001386435 CCDS2735 O00574 "9166430|9230441" MGI:1934582 RGD:1642118 605163 objectId:73 CD186 HGNC:16647 "ENST00000304552.5|NM_006564.2" +HGNC:28589 CXorf38 chromosome X open reading frame 38 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 MGC39350 2004-09-02 2020-04-02 159013 ENSG00000185753 OTTHUMG00000024104 uc004dew.4 AL832829 NM_144970 "CCDS83467|CCDS14253" Q8TB03 23768067 MGI:1916405 RGD:1565685 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf38 HGNC:28589 "ENST00000327877.10|NM_144970.3" +HGNC:30891 CXorf49 chromosome X open reading frame 49 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2008-01-24 2020-06-15 100130361 ENSG00000215115 OTTHUMG00000022702 uc011mpy.3 BE731937 NM_001145140 CCDS75991 A8MYA2 26078803 MGI:2685988 RGD:2320498 HGNC:30891 "ENST00000535490.3|NM_001145140.2" +HGNC:34229 CXorf49B chromosome X open reading frame 49B protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2008-05-27 2019-10-24 100132994 ENSG00000215113 OTTHUMG00000021804 uc011mpz.3 BE731937 NM_001145139 CCDS75992 A8MYA2 MGI:2685988 HGNC:34229 "ENST00000542739.3|NM_001145139.2" +HGNC:30533 CXorf51A chromosome X open reading frame 51A protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 CXorf51 chromosome X open reading frame 51 2008-01-24 2011-09-08 2011-09-08 2021-10-21 100129239 ENSG00000224440 OTTHUMG00000022600 uc065blc.1 AA723770 NM_001144064 CCDS83498 A0A1B0GTR3 34415548 RGD:9476443 HGNC:30533 "ENST00000458472.2|NM_001144064.3" +HGNC:42787 CXorf51B chromosome X open reading frame 51B protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 2011-09-08 2021-10-21 100133053 ENSG00000235699 OTTHUMG00000022599 uc065blb.1 NM_001244892 CCDS83497 P0DPH9 34415548 HGNC:42787 "ENST00000438525.3|NM_001244892.2" +HGNC:26356 CXorf58 chromosome X open reading frame 58 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 FLJ25444 2006-07-11 2022-01-07 254158 ENSG00000165182 OTTHUMG00000021258 uc004daz.2 AK058173 NM_152761 CCDS14209 Q96LI9 "27809547|34318869" MGI:1921682 RGD:1590267 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf58 HGNC:26356 "ENST00000379211.8|NM_152761.3" +HGNC:33713 CXorf65 chromosome X open reading frame 65 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2009-03-06 2020-11-23 158830 ENSG00000204165 OTTHUMG00000021785 uc011mpo.3 BC144434 NM_001025265 CCDS35324 A6NEN9 33193409 MGI:2685460 RGD:9078783 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf65 HGNC:33713 "ENST00000374251.6|NM_001025265.3" +HGNC:33743 CXorf66 chromosome X open reading frame 66 protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 "RP11-35F15.2|SGPX" secreted glycoprotein, X-linked 2009-03-20 2020-04-02 347487 ENSG00000203933 OTTHUMG00000022539 uc004fbb.4 NM_001013403 CCDS35411 Q5JRM2 24709545 MGI:3779666 RGD:1584124 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf66 HGNC:33743 "ENST00000370540.2|NM_001013403.3" +HGNC:24343 CXXC1 CXXC finger protein 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "HsT2645|PCCX1|hCGBP|PHF18|CGBP|SPP1|CFP1|ZCGPC1" "CpG binding protein|DNA-binding protein with PHD finger and CXXC domain|zinc finger, CpG binding-type containing 1" CXXC finger 1 (PHD domain) "PHD finger proteins|Zinc fingers CXXC-type" "88|136" 2004-02-18 2014-02-20 2016-10-05 30827 ENSG00000154832 OTTHUMG00000132670 uc002leq.5 BC014940 NM_014593 "CCDS11945|CCDS45866" Q9P0U4 "10799292|10688657" MGI:1921572 RGD:1310755 609150 HGNC:24343 "ENST00000285106.11|NM_014593.4" +HGNC:27864 CXXC1P1 CXXC finger protein 1 pseudogene 1 pseudogene pseudogene Approved Xp11.23 Xp11.23 FLJ36789 "CXorf25|NCRNA00236" "chromosome X open reading frame 25|non-protein coding RNA 236|CXXC finger 1 pseudogene 1" 2004-06-17 2010-07-02 2011-12-01 2020-04-20 392459 ENSG00000187893 OTTHUMG00000021450 AK094108 NR_033924 14702039 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf25 PGOHUM00000241737 HGNC:27864 +HGNC:24593 CXXC4 CXXC finger protein 4 protein-coding gene gene with protein product Approved 4q24 04q24 IDAX Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex) Zinc fingers CXXC-type 136 2004-02-18 2011-12-01 2016-04-25 80319 ENSG00000168772 OTTHUMG00000131121 uc003hxf.3 NM_025212 CCDS3665 Q9H2H0 11113207 MGI:2442112 RGD:69228 611645 HGNC:24593 "ENST00000394767.3|NM_025212.4" +HGNC:41054 CXXC4-AS1 CXXC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Antisense RNAs 1987 2017-01-10 2017-01-10 101929468 ENSG00000245384 OTTHUMG00000160977 NR_125926 HGNC:41054 +HGNC:26943 CXXC5 CXXC finger protein 5 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "HSPC195|RINF|WID" "retinoid-inducible nuclear factor|WT1-induced Inhibitor of Dishevelled" Zinc fingers CXXC-type 136 2004-02-18 2011-12-01 2016-10-05 51523 ENSG00000171604 OTTHUMG00000163331 uc010jfg.2 AK024338 NM_016463 CCDS43370 Q7LFL8 "11042152|19001364|19182210|20220130" MGI:1914643 RGD:1359466 612752 HGNC:26943 "ENST00000302517.8|NM_016463.9" +HGNC:53009 CXXC5-AS1 CXXC5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 Antisense RNAs 1987 2017-01-05 2017-01-05 111082989 ENSG00000250635 OTTHUMG00000163330 "DB153214|DA333300" NR_149086 HGNC:53009 +HGNC:2570 CYB5A cytochrome b5 type A protein-coding gene gene with protein product Approved 18q22.3 18q22.3 CYB5 "cytochrome b-5|cytochrome b5 (microsomal)|cytochrome b5 type A (microsomal)" 1990-06-22 2006-01-30 2016-04-05 2016-10-05 1528 ENSG00000166347 OTTHUMG00000132843 uc002lli.4 M22865 "NM_001914|NM_148923" "CCDS12004|CCDS12005|CCDS54188" P00167 1840560 MGI:1926952 RGD:620558 613218 120929 HGNC:2570 "ENST00000340533.9|NM_148923.4" HGNC:2570 +HGNC:2573 CYB5AP2 cytochrome b5 type A pseudogene 2 pseudogene pseudogene Approved 2q31.1 02q31.1 CYB5P2 "cytochrome b-5 pseudogene 2|cytochrome b5 type A (microsomal) pseudogene 2" 1992-10-06 2010-01-13 2016-06-27 2020-01-21 100128621 ENSG00000214369 NG_016583 1712589 HGNC:2573 +HGNC:2574 CYB5AP3 cytochrome b5 type A pseudogene 3 pseudogene pseudogene Approved 14q32.12 14q32.12 Psgb-5-1 CYB5P3 "cytochrome b-5 pseudogene 3|cytochrome b5 type A (microsomal) pseudogene 3" 1994-07-29 2010-01-13 2016-06-27 2020-04-07 1531 ENSG00000258595 OTTHUMG00000171264 M25765 NG_002437 "8262522|2775258" PGOHUM00000292752 HGNC:2574 +HGNC:2575 CYB5AP4 cytochrome b5 type A pseudogene 4 pseudogene pseudogene Approved 20p11.21 20p11.21 "bA189G24.1|Psgb-5-2" CYB5P4 "cytochrome b-5 pseudogene 4|cytochrome b5 type A (microsomal) pseudogene 4" 1994-07-29 2010-01-13 2016-06-27 2016-07-22 1532 ENSG00000213882 OTTHUMG00000032048 M24781 NG_001021 "8262522|2775258" PGOHUM00000296921 HGNC:2575 +HGNC:2576 CYB5AP5 cytochrome b5 type A pseudogene 5 pseudogene pseudogene Approved 14q12 14q12 CYB5P5 "cytochrome b-5 pseudogene 5|cytochrome b5 type A (microsomal) pseudogene 5" 1994-07-29 2010-01-13 2016-06-27 2020-04-20 100289051 ENSG00000257503 OTTHUMG00000170316 NG_029049 PGOHUM00000292606 HGNC:2576 +HGNC:24374 CYB5B cytochrome b5 type B protein-coding gene gene with protein product Approved 16q22.1 16q22.1 CYB5-M cytochrome b5 type B (outer mitochondrial membrane) 2006-01-30 2016-03-17 2016-03-17 80777 ENSG00000103018 OTTHUMG00000133020 uc059wli.1 NM_030579 CCDS10880 O43169 "11867265|14733950" MGI:1913677 RGD:621551 611964 HGNC:24374 "ENST00000307892.13|NM_030579.3" +HGNC:26516 CYB5D1 cytochrome b5 domain containing 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ32499 2006-01-12 2006-01-12 2015-08-28 124637 ENSG00000182224 OTTHUMG00000178175 uc002gjb.5 AK057061 NM_144607 "CCDS82061|CCDS11123" Q6P9G0 12477932 MGI:2685586 RGD:1559567 HGNC:26516 "ENST00000332439.5|NM_144607.6" +HGNC:28471 CYB5D2 cytochrome b5 domain containing 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 MGC32124 neuferricin Membrane associated progesterone receptor family 1282 2006-01-12 2016-06-10 124936 ENSG00000167740 OTTHUMG00000177726 uc002fxm.5 AK172844 NM_144611 "CCDS11044|CCDS58501" Q8WUJ1 19968755 MGI:2684848 RGD:1359124 HGNC:28471 "ENST00000301391.8|NM_144611.4" +HGNC:13397 CYB5R1 cytochrome b5 reductase 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 humb5R2 NQO3A2 NAD(P)H:quinone oxidoreductase type 3, polypeptide A2 2004-06-08 2005-07-13 2014-11-19 51706 ENSG00000159348 OTTHUMG00000041387 uc001gyt.3 AF169481 NM_016243 CCDS1431 Q9UHQ9 "12975309|10611283" MGI:1919267 RGD:1306084 608341 1.6.2.2 HGNC:13397 "ENST00000367249.9|NM_016243.3" +HGNC:24376 CYB5R2 cytochrome b5 reductase 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 2005-07-13 2014-11-18 51700 ENSG00000166394 OTTHUMG00000165665 uc009yfk.4 AF169802 NM_016229 CCDS7780 Q6BCY4 10611283 MGI:2444415 RGD:1308421 608342 1.6.2.2 HGNC:24376 "ENST00000299498.11|NM_016229.5" +HGNC:2873 CYB5R3 cytochrome b5 reductase 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 NADH-cytochrome b5 reductase 3 DIA1 diaphorase (NADH) (cytochrome b-5 reductase) 2001-06-22 2005-07-13 2016-01-18 1727 ENSG00000100243 OTTHUMG00000150745 uc003bcz.4 M16461 NM_000398 "CCDS54535|CCDS14040|CCDS33658" P00387 "2479590|3268037" MGI:94893 RGD:2502 613213 120932 1.6.2.2 HGNC:2873 "ENST00000352397.10|NM_000398.7" HGNC:2873 +HGNC:20147 CYB5R4 cytochrome b5 reductase 4 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 "b5+b5R|dJ676J13.1" NCB5OR NADPH cytochrome B5 oxidoreductase 2003-08-27 2005-07-13 2014-11-18 51167 ENSG00000065615 OTTHUMG00000015118 uc003pkf.4 AF169803 NM_016230 CCDS5000 Q7L1T6 10611283 MGI:2386848 RGD:621834 608343 1.6.2.2 HGNC:20147 "ENST00000369681.10|NM_016230.4" +HGNC:32220 CYB5RL cytochrome b5 reductase like protein-coding gene gene with protein product Approved 1p32.3 01p32.3 LOC606495 cytochrome b5 reductase-like 2008-12-03 2016-01-19 2016-01-19 606495 ENSG00000215883 OTTHUMG00000008082 uc057gtt.1 NM_001031672 "CCDS85978|CCDS44151" Q6IPT4 12477932 MGI:1919657 RGD:1597451 HGNC:32220 "ENST00000534324.6|NM_001031672.4" +HGNC:2571 CYB561 cytochrome b561 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "FRRS2|CYB561A1" "ferric-chelate reductase 2|cytochrome b561 family, member A1" Cytochrome b561 497 1993-10-14 2013-03-14 2014-11-19 1534 ENSG00000008283 OTTHUMG00000179116 uc002jat.4 NM_001915 "CCDS82184|CCDS11636" P49447 "7959749|23249217" MGI:103253 RGD:1310987 600019 HGNC:2571 "ENST00000360793.8|NM_001915.4" HGNC:2571 +HGNC:23014 CYB561A3 cytochrome b561 family member A3 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 CYBASC3 "cytochrome b, ascorbate dependent 3|cytochrome b561 family, member A3" Cytochrome b561 497 2003-10-06 2013-03-14 2015-11-18 2015-11-18 220002 ENSG00000162144 OTTHUMG00000157187 uc001nrg.4 AK024953 NM_153611 "CCDS8004|CCDS53639|CCDS73296" Q8NBI2 23249217 MGI:2686925 RGD:1304670 618757 HGNC:23014 "ENST00000294072.9|NM_153611.6" +HGNC:26804 CYB561D1 cytochrome b561 family member D1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ39035|FLJ44753" "cytochrome b-561 domain containing 1|cytochrome b561 family, member D1" Cytochrome b561 497 2004-04-27 2015-11-18 2016-10-05 284613 ENSG00000174151 OTTHUMG00000011051 uc010ovn.3 AK096354 NM_182580 "CCDS44191|CCDS44188|CCDS44190|CCDS44189|CCDS800" Q8N8Q1 23249217 MGI:1919273 RGD:1310829 HGNC:26804 "ENST00000420578.7|NM_182580.3" +HGNC:30253 CYB561D2 cytochrome b561 family member D2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "101F6|TSP10" putative tumor suppressor 101F6 "cytochrome b-561 domain containing 2|cytochrome b561 family, member D2" Cytochrome b561 497 2004-04-27 2015-11-18 2016-10-05 11068 ENSG00000114395 OTTHUMG00000156813 uc003dam.4 AF040704 NM_007022 CCDS2827 O14569 "9122200|11085536|23249217" MGI:1929280 RGD:1359644 607068 HGNC:30253 "ENST00000425346.6|NM_001291284.2" +HGNC:2577 CYBA cytochrome b-245 alpha chain protein-coding gene gene with protein product Approved 16q24.2 16q24.2 p22-PHOX flavocytochrome b-558 alpha polypeptide cytochrome b-245, alpha polypeptide 1990-01-15 2016-03-17 2021-04-13 1535 ENSG00000051523 OTTHUMG00000173320 uc002flb.5 NM_000101 CCDS32504 P13498 2243141 MGI:1316658 RGD:620573 "CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox|http://structure.bmc.lu.se/idbase/CYBAbase/|LRG_52|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_52.xml" 608508 138719 HGNC:2577 "ENST00000261623.8|NM_000101.4" HGNC:2577 +HGNC:2578 CYBB cytochrome b-245 beta chain protein-coding gene gene with protein product Approved Xp21.1-p11.4 Xp21.1-p11.4 "GP91-PHOX|NOX2" NADPH oxidase 2 CGD "chronic granulomatous disease|cytochrome b-245, beta polypeptide" 1986-01-01 2016-05-16 2021-04-13 1536 ENSG00000165168 OTTHUMG00000033175 uc004ddr.3 X04011 NM_000397 CCDS14242 P04839 MGI:88574 RGD:620574 "CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase)|http://structure.bmc.lu.se/idbase/CYBBbase/|LRG_53|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_53.xml" 300481 120935 objectId:3002 HGNC:2578 "ENST00000378588.5|NM_000397.4" HGNC:2578 +HGNC:28672 CYBC1 cytochrome b-245 chaperone 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC4368|FLJ90469|Eros" C17orf62 chromosome 17 open reading frame 62 2005-12-16 2018-02-26 2018-02-26 2018-10-30 79415 ENSG00000178927 OTTHUMG00000178770 uc002kfb.6 AK074950 NM_001033046 "CCDS45817|CCDS32776" Q9BQA9 "21503106|28351984|30312704|30361506" MGI:2384959 RGD:1562022 618334 HGNC:28672 "ENST00000306645.10|NM_001033046.4" HGNC:28672 +HGNC:20797 CYBRD1 cytochrome b reductase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "DCYTB|FLJ23462|FRRS3|CYB561A2" "ferric-chelate reductase 3|cytochrome b561 family, member A2" Cytochrome b561 497 2003-07-16 2016-10-05 79901 ENSG00000071967 OTTHUMG00000132260 uc002ugy.5 AK027115 NM_024843 "CCDS2244|CCDS46449|CCDS58736" Q53TN4 11230685 MGI:2654575 RGD:1305740 605745 470154 HGNC:20797 "ENST00000321348.9|NM_024843.4" HGNC:20797 +HGNC:2579 CYC1 cytochrome c1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 UQCR4 "Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits|Apoptosome" "642|1341" 1988-07-06 2016-01-18 2021-05-26 1537 ENSG00000179091 OTTHUMG00000165242 uc003zaz.6 BC001006 NM_001916 CCDS6415 P08574 MGI:1913695 RGD:1306597 123980 363276 HGNC:2579 "ENST00000318911.5|NM_001916.5" HGNC:2579 +HGNC:19986 CYCS cytochrome c, somatic protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "HCS|CYC" 2002-12-16 2021-04-13 54205 ENSG00000172115 OTTHUMG00000128495 uc003sxl.4 M22877 NM_018947 CCDS5393 P99999 11790791 MGI:88578 RGD:2451 LRG_876|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_876.xml 123970 173240 HGNC:19986 "ENST00000305786.7|NM_018947.6" HGNC:19986 +HGNC:20095 CYCSP1 CYCS pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 "HC5|HCP36" cytochrome c, somatic pseudogene 1 2003-09-24 2019-01-21 2019-01-21 122950 ENSG00000271423 OTTHUMG00000184602 M22886 NG_002985 2849112 PGOHUM00000248234 HGNC:20095 +HGNC:24410 CYCSP2 CYCS pseudogene 2 pseudogene pseudogene Approved 15q15.1 15q15.1 HCP37 cytochrome c, somatic pseudogene 2 2004-08-25 2019-01-21 2019-01-21 360183 ENSG00000259547 OTTHUMG00000172522 AF533198 NG_002986 12909341 PGOHUM00000247096 HGNC:24410 +HGNC:24395 CYCSP3 CYCS pseudogene 3 pseudogene pseudogene Approved 8p12 08p12 "HCP21|HS7" cytochrome c, somatic pseudogene 3 2004-08-25 2019-01-21 2019-01-21 349198 M22893 NG_002971 "2849112|12909341" HGNC:24395 +HGNC:24413 CYCSP4 CYCS pseudogene 4 pseudogene pseudogene Approved 1q32.1 01q32.1 HCP4 cytochrome c, somatic pseudogene 4 2005-04-29 2019-01-21 2019-01-21 360157 ENSG00000229120 OTTHUMG00000041382 AF533165 NG_002955 12909341 PGOHUM00000244389 HGNC:24413 +HGNC:24416 CYCSP5 CYCS pseudogene 5 pseudogene pseudogene Approved 1q44 01q44 HCP5 cytochrome c, somatic pseudogene 5 2005-04-29 2019-01-21 2019-01-21 360158 ENSG00000227735 OTTHUMG00000040399 AF533166 NG_002956 "12909341|12815422" PGOHUM00000244524 HGNC:24416 +HGNC:24421 CYCSP6 CYCS pseudogene 6 pseudogene pseudogene Approved 2p12 02p12 HCP6 cytochrome c, somatic pseudogene 6 2005-04-29 2019-01-21 2019-01-21 360159 ENSG00000214429 OTTHUMG00000152870 AF533167 NG_002957 12909341 PGOHUM00000240106 HGNC:24421 +HGNC:24422 CYCSP7 CYCS pseudogene 7 pseudogene pseudogene Approved 2q11.2 02q11.2 HCP7 cytochrome c, somatic pseudogene 7 2005-04-29 2019-01-21 2020-01-21 164837 ENSG00000269383 AF533168 NG_002958 12909341 HGNC:24422 +HGNC:24423 CYCSP8 CYCS pseudogene 8 pseudogene pseudogene Approved 2q21.1 02q21.1 HCP8 cytochrome c, somatic pseudogene 8 2005-04-29 2019-01-21 2019-01-21 360160 ENSG00000232503 OTTHUMG00000154067 AF533169 NG_002959 12909341 PGOHUM00000240936 HGNC:24423 +HGNC:24384 CYCSP10 CYCS pseudogene 10 pseudogene pseudogene Approved 3p25.3 03p25.3 HCP10 cytochrome c, somatic pseudogene 10 2005-04-29 2019-01-21 2019-01-21 360166 ENSG00000232901 OTTHUMG00000155302 AF533171 NG_002961 12909341 PGOHUM00000237527 HGNC:24384 +HGNC:24385 CYCSP11 CYCS pseudogene 11 pseudogene pseudogene Approved 3p25.3 03p25.3 HCP11 cytochrome c, somatic pseudogene 11 2005-04-29 2019-01-21 2019-01-21 360167 ENSG00000229217 OTTHUMG00000155399 AF533172 NG_002962 12909341 PGOHUM00000237530 HGNC:24385 +HGNC:24386 CYCSP12 CYCS pseudogene 12 pseudogene pseudogene Approved 3p25.2 03p25.2 "HCP12|HCP13" CYCSP13 "cytochrome c, somatic pseudogene 13|cytochrome c, somatic pseudogene 12" 2005-04-29 2019-01-21 2019-01-21 360168 ENSG00000224263 OTTHUMG00000155299 AF533173 NG_002963 12909341 PGOHUM00000237534 HGNC:24386 +HGNC:24388 CYCSP14 CYCS pseudogene 14 pseudogene pseudogene Approved 4q28.2 04q28.2 HCP14 cytochrome c, somatic pseudogene 14 2005-04-29 2019-01-21 2019-01-21 360170 AF533175 NG_002965 12909341 HGNC:24388 +HGNC:24389 CYCSP16 CYCS pseudogene 16 pseudogene pseudogene Approved 6q15 06q15 HCP16 cytochrome c, somatic pseudogene 16 2005-04-29 2005-08-09 2019-01-21 2019-01-21 360171 AF533177 NG_002966 12909341 HGNC:24389 +HGNC:24390 CYCSP17 CYCS pseudogene 17 pseudogene pseudogene Approved 6q16.1 06q16.1 HCP17 cytochrome c, somatic pseudogene 17 2005-04-29 2019-01-21 2019-01-21 360172 ENSG00000219627 OTTHUMG00000015233 AF533178 NG_002967 12909341 PGOHUM00000243714 HGNC:24390 +HGNC:24391 CYCSP18 CYCS pseudogene 18 pseudogene pseudogene Approved 7q21.3 07q21.3 HCP18 cytochrome c, somatic pseudogene 18 2005-04-29 2019-01-21 2019-01-21 360173 AF533179 NG_002968 12909341 HGNC:24391 +HGNC:24392 CYCSP19 CYCS pseudogene 19 pseudogene pseudogene Approved 7q31.31 07q31.31 HCP19 cytochrome c, somatic pseudogene 19 2005-04-29 2019-01-21 2019-01-21 360174 ENSG00000213310 OTTHUMG00000157004 AF533180 NG_002969 12909341 PGOHUM00000233540 HGNC:24392 +HGNC:24394 CYCSP20 CYCS pseudogene 20 pseudogene pseudogene Approved 7q32.1 07q32.1 HCP20 cytochrome c, somatic pseudogene 20 2005-04-29 2019-01-21 2019-01-21 349158 ENSG00000240416 OTTHUMG00000158419 AF533181 NG_002970 12909341 PGOHUM00000232990 HGNC:24394 +HGNC:24396 CYCSP22 CYCS pseudogene 22 pseudogene pseudogene Approved 8q11.21 08q11.21 HCP22 cytochrome c, somatic pseudogene 22 2005-04-29 2019-01-21 2019-01-21 360175 ENSG00000254358 OTTHUMG00000164260 AF533183 NG_002972 12909341 PGOHUM00000249337 HGNC:24396 +HGNC:24397 CYCSP23 CYCS pseudogene 23 pseudogene pseudogene Approved 8q24.12 08q24.12 HCP23 cytochrome c, somatic pseudogene 23 2005-04-29 2019-01-21 2019-01-21 360176 ENSG00000253495 OTTHUMG00000164996 AF533184 NG_002973 12909341 HGNC:24397 +HGNC:24398 CYCSP24 CYCS pseudogene 24 pseudogene pseudogene Approved 9q22.32 09q22.32 "HCP24|HC3|HCP31" cytochrome c, somatic pseudogene 24 2005-03-08 2019-01-21 2019-01-21 360177 ENSG00000227666 OTTHUMG00000020257 M22880 NG_002974 "2849112|12909341" PGOHUM00000236710 HGNC:24398 +HGNC:24399 CYCSP25 CYCS pseudogene 25 pseudogene pseudogene Approved 11p13 11p13 "HC10|HCP25" cytochrome c, somatic pseudogene 25 2005-03-08 2019-01-21 2019-01-21 120528 ENSG00000255370 OTTHUMG00000166209 M22892 NG_002975 "2849112|12909341" PGOHUM00000242202 HGNC:24399 +HGNC:24400 CYCSP26 CYCS pseudogene 26 pseudogene pseudogene Approved 11q12.1 11q12.1 HCP26 cytochrome c, somatic pseudogene 26 2005-04-29 2019-01-21 2019-01-21 360178 ENSG00000254601 OTTHUMG00000167387 AF533187 NG_002976 12909341 PGOHUM00000242740 HGNC:24400 +HGNC:24401 CYCSP27 CYCS pseudogene 27 pseudogene pseudogene Approved 11q13.4 11q13.4 HCP27 cytochrome c, somatic pseudogene 27 2005-04-29 2019-01-21 2019-01-21 341148 ENSG00000255444 OTTHUMG00000165643 AF533188 NG_002977 12909341 PGOHUM00000242804 HGNC:24401 +HGNC:24402 CYCSP28 CYCS pseudogene 28 pseudogene pseudogene Approved 11q14.1 11q14.1 HCP28 cytochrome c, somatic pseudogene 28 2005-04-29 2019-01-21 2019-01-21 360179 ENSG00000255003 OTTHUMG00000167092 AF533189 NG_002978 12909341 PGOHUM00000242827 HGNC:24402 +HGNC:24403 CYCSP29 CYCS pseudogene 29 pseudogene pseudogene Approved 11q22.3 11q22.3 HCP29 cytochrome c, somatic pseudogene 29 2005-04-29 2019-01-21 2019-01-21 360180 ENSG00000255379 OTTHUMG00000166543 AF533190 NG_002979 12909341 PGOHUM00000242473 HGNC:24403 +HGNC:24405 CYCSP30 CYCS pseudogene 30 pseudogene pseudogene Approved 12q21.32 12q21.32 HCP30 cytochrome c, somatic pseudogene 30 2005-04-29 2019-01-21 2019-01-21 121026 ENSG00000257648 OTTHUMG00000169863 AF533191 NG_002980 12909341 PGOHUM00000251023 HGNC:24405 +HGNC:24406 CYCSP32 CYCS pseudogene 32 pseudogene pseudogene Approved 13q12.11 13q12.11 HCP32 cytochrome c, somatic pseudogene 32 2005-04-29 2019-01-21 2019-01-21 360181 ENSG00000223625 OTTHUMG00000016492 AF533193 NG_002981 12909341 PGOHUM00000248309 HGNC:24406 +HGNC:24407 CYCSP33 CYCS pseudogene 33 pseudogene pseudogene Approved 13q12.12 13q12.12 HCP33 cytochrome c, somatic pseudogene 33 2005-04-29 2019-01-21 2019-01-21 221180 ENSG00000233545 OTTHUMG00000016581 AF533194 NG_002982 12909341 PGOHUM00000248534 HGNC:24407 +HGNC:24408 CYCSP34 CYCS pseudogene 34 pseudogene pseudogene Approved 13q14.11 13q14.11 HCP34 cytochrome c, somatic pseudogene 34 2005-04-28 2019-01-21 2019-01-21 360182 ENSG00000176268 OTTHUMG00000016778 AF533195 NG_002983 12909341 PGOHUM00000248376 HGNC:24408 +HGNC:24409 CYCSP35 CYCS pseudogene 35 pseudogene pseudogene Approved 13q32.2 13q32.2 "HCP35|HC8" cytochrome c, somatic pseudogene 35 2005-03-08 2019-01-21 2019-01-21 121916 ENSG00000233549 OTTHUMG00000017252 M22891 NG_002984 "2849112|12909341" PGOHUM00000248474 HGNC:24409 +HGNC:24411 CYCSP38 CYCS pseudogene 38 pseudogene pseudogene Approved 15q22.2 15q22.2 "HCP38|HC2" cytochrome c, somatic pseudogene 38 2005-03-08 2019-01-21 2019-01-21 360184 ENSG00000259513 OTTHUMG00000172105 M22879 NG_002987 "2849112|12909341" PGOHUM00000247140 HGNC:24411 +HGNC:24412 CYCSP39 CYCS pseudogene 39 pseudogene pseudogene Approved 16p12.1 16p12.1 "HC1|HCP39" cytochrome c, somatic pseudogene 39 2005-03-08 2019-01-21 2019-01-21 342358 ENSG00000260690 OTTHUMG00000177071 M22878 NG_002988 "2849112|12909341" PGOHUM00000250647 HGNC:24412 +HGNC:24414 CYCSP40 CYCS pseudogene 40 pseudogene pseudogene Approved 17q25.2 17q25.2 "HCP40|HC7" cytochrome c, somatic pseudogene 40 2005-03-08 2019-01-21 2019-01-21 360185 ENSG00000262870 OTTHUMG00000177326 M22890 NG_002989 "2849112|12909341" PGOHUM00000294224 HGNC:24414 +HGNC:2580 CYCSP41 CYCS pseudogene 41 pseudogene pseudogene Approved 21p11.2 21p11.2 HCP41 CYC1LP4 "cytochrome c-1-like pseudogene 4|cytochrome c, somatic pseudogene 41" 2000-05-23 2005-04-28 2019-01-21 2019-01-21 360186 ENSG00000278678 OTTHUMG00000188253 AF533202 NG_002990 12909341 PGOHUM00000297330 HGNC:2580 +HGNC:2581 CYCSP42 CYCS pseudogene 42 pseudogene pseudogene Approved 21q21.1 21q21.1 CYC1LP5 "cytochrome c-1-like pseudogene 5|cytochrome c, somatic pseudogene 42" 2000-05-23 2005-04-28 2019-01-21 2019-01-21 343727 ENSG00000224524 OTTHUMG00000074331 AF533203 NG_002991 12909341 PGOHUM00000239036 HGNC:2581 +HGNC:24417 CYCSP43 CYCS pseudogene 43 pseudogene pseudogene Approved Xq13.1 Xq13.1 HCP43 cytochrome c, somatic pseudogene 43 2005-04-28 2019-01-21 2019-01-21 360187 ENSG00000231706 OTTHUMG00000021755 AF533204 NG_002992 12909341 PGOHUM00000241369 HGNC:24417 +HGNC:24418 CYCSP44 CYCS pseudogene 44 pseudogene pseudogene Approved Xq27.3 Xq27.3 HCP44 cytochrome c, somatic pseudogene 44 2005-04-29 2019-01-21 2019-01-21 349391 ENSG00000233548 OTTHUMG00000022591 AF533205 NG_002993 12909341 PGOHUM00000242059 HGNC:24418 +HGNC:24419 CYCSP45 CYCS pseudogene 45 pseudogene pseudogene Approved Xq28 Xq28 HCP45 cytochrome c, somatic pseudogene 45 2005-04-29 2019-01-21 2019-01-21 352852 ENSG00000184844 OTTHUMG00000024210 AF533206 NG_002994 12909341 PGOHUM00000242093 HGNC:24419 +HGNC:23941 CYCSP46 CYCS pseudogene 46 pseudogene pseudogene Approved Yq11.221 Yq11.221 "HCP46|HCP47" cytochrome c, somatic pseudogene 46 2005-04-29 2019-01-21 2019-01-21 286550 ENSG00000227949 OTTHUMG00000036621 AF533208 NG_002926 "12815422|12909341" PGOHUM00000233752 HGNC:23941 +HGNC:23942 CYCSP48 CYCS pseudogene 48 pseudogene pseudogene Approved Yq11.23 Yq11.23 HCP48 cytochrome c, somatic pseudogene 48 2005-04-29 2019-01-21 2019-01-21 360188 ENSG00000233843 OTTHUMG00000036766 AF533209 NG_002995 "12909341|12815422" PGOHUM00000234099 HGNC:23942 +HGNC:23943 CYCSP49 CYCS pseudogene 49 pseudogene pseudogene Approved Yq11.23 Yq11.23 HCP49 CYCSP54 "cytochrome c, somatic pseudogene 54|cytochrome c, somatic pseudogene 49" 2005-04-29 2019-01-21 2020-04-20 360009 ENSG00000224240 OTTHUMG00000036760 AF533210 NG_002999 "12909341|12815422" PGOHUM00000234103 HGNC:23943 +HGNC:24383 CYCSP51 CYCS pseudogene 51 pseudogene pseudogene Approved 1q21.3 01q21.3 HCP1 cytochrome c, somatic pseudogene 51 2005-04-29 2019-01-21 2019-01-21 343045 ENSG00000229357 OTTHUMG00000035013 AF533162 NG_002953 12909341 PGOHUM00000244999 HGNC:24383 +HGNC:24393 CYCSP52 CYCS pseudogene 52 pseudogene pseudogene Approved 1q23.1 01q23.1 "HCP2|HC6" cytochrome c, somatic pseudogene 52 2005-03-08 2019-01-21 2019-01-21 360155 ENSG00000235700 OTTHUMG00000041326 M22889 NR_001560 "2849112|12909341" PGOHUM00000245019 HGNC:24393 +HGNC:24404 CYCSP53 CYCS pseudogene 53 pseudogene pseudogene Approved 1q24.3 01q24.3 HCP3 cytochrome c, somatic pseudogene 53 2005-04-29 2019-01-21 2019-01-21 360156 ENSG00000234333 OTTHUMG00000057643 AF533164 NG_002954 12909341 PGOHUM00000244332 HGNC:24404 +HGNC:21252 CYCSP55 CYCS pseudogene 55 pseudogene pseudogene Approved 6p21.31 06p21.31 "bA513I15.3|HCP15" CYCSL1 "cytochrome c, somatic-like 1|cytochrome c, somatic-like 1 (pseudogene)|cytochrome c, somatic pseudogene 55" 2003-11-26 2010-10-12 2019-01-21 2019-01-21 157317 ENSG00000214810 OTTHUMG00000014540 NG_007352 12909341 PGOHUM00000243598 HGNC:21252 +HGNC:24424 CYCTP cytochrome c, testis, pseudogene pseudogene pseudogene Approved 2q31.2 02q31.2 HCP9 2010-03-12 2020-08-14 360163 ENSG00000249909 OTTHUMG00000154943 NG_002960 "12909341|20210993" MGI:88579 RGD:2452 HGNC:24424 +HGNC:13759 CYFIP1 cytoplasmic FMR1 interacting protein 1 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "KIAA0068|P140SRA-1|SHYC" "selective hybridizing clone|cytoplasmic FMRP interacting protein 1" SCAR/WAVE complex 1793 2002-05-23 2015-02-02 23191 ENSG00000273749 OTTHUMG00000129100 uc001yus.5 D38549 NM_014608 "CCDS73696|CCDS73695" Q7L576 11438699 MGI:1338801 RGD:1310332 606322 470156 HGNC:13759 "ENST00000617928.5|NM_014608.6" +HGNC:13760 CYFIP2 cytoplasmic FMR1 interacting protein 2 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 PIR121 p53 inducible protein SCAR/WAVE complex 1793 2002-05-23 2021-05-26 26999 ENSG00000055163 OTTHUMG00000163484 uc032vpr.2 AF160973 NM_001037332 "CCDS75364|CCDS78078|CCDS78077" Q96F07 11438699 MGI:1924134 RGD:1305048 606323 HGNC:13760 "ENST00000620254.5|NM_001037333.3" HGNC:13760 +HGNC:16505 CYGB cytoglobin protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HGB|STAP" "stellate cell activation-associated protein|histoglobin" 2001-09-21 2015-07-22 114757 ENSG00000161544 OTTHUMG00000180289 uc002jru.3 AJ315162 NM_134268 CCDS11746 Q8WWM9 11919282 MGI:2149481 RGD:69415 608759 HGNC:16505 "ENST00000293230.10|NM_134268.5" +HGNC:17806 CYHR1 cysteine and histidine rich 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "CHRP|KIAA0496|MGC13010" cysteine/histidine-rich 1 Ring finger proteins 58 2001-12-17 2016-06-06 2020-11-17 50626 ENSG00000187954 OTTHUMG00000165171 uc003zcv.3 AB007965 NM_032687 CCDS83335 Q6ZMK1 10745073 MGI:1859320 RGD:2318728 616635 HGNC:17806 "ENST00000530374.6|NM_001330618.2" +HGNC:2582 CYLC1 cylicin 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 cylicin, basic protein of sperm head cytoskeleton 1 1998-03-20 2016-02-22 2016-02-22 1538 ENSG00000183035 OTTHUMG00000021922 uc004eei.3 Z22780 NM_021118 "CCDS75998|CCDS35341" P35663 "7737358|8354692" MGI:1914657 RGD:2323810 300768 HGNC:2582 "ENST00000329312.5|NM_021118.3" +HGNC:2583 CYLC2 cylicin 2 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 cylicin, basic protein of sperm head cytoskeleton 2 1998-03-20 2016-03-15 2016-10-05 1539 ENSG00000155833 OTTHUMG00000020396 uc004bbs.2 Z46788 NM_001340 CCDS35085 Q14093 7737358 MGI:1922164 RGD:1562799 604035 HGNC:2583 "ENST00000374798.8|NM_001340.5" HGNC:2583 +HGNC:2584 CYLD CYLD lysine 63 deubiquitinase protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "KIAA0849|USPL2" ubiquitin specific peptidase like 2 CYLD1 cylindromatosis (turban tumor syndrome) "Ubiquitin specific peptidases|MicroRNA protein coding host genes" "366|1691" 1996-12-17 2016-02-17 2021-05-26 1540 ENSG00000083799 OTTHUMG00000173404 uc002egq.2 AB020656 NM_001042355 "CCDS42164|CCDS45482" Q9NQC7 7493027 MGI:1921506 RGD:1308346 LRG_491|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_491.xml CYLD 605018 120940 C67.001 HGNC:2584 "ENST00000427738.8|NM_001378743.1" HGNC:2584 +HGNC:55352 CYLD-AS1 CYLD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Antisense RNAs 1987 2020-11-05 2020-11-05 102724907 ENSG00000261644 XR_007065199 +HGNC:2588 CYMP chymosin, pseudogene pseudogene pseudogene Approved 1p13.3 01p13.3 rennin pseudogene Peptidase family A1 1928 1991-07-16 2019-07-30 2020-08-13 643160 ENSG00000240194 OTTHUMG00000022784 NR_003599 2071156 118943 A01.P02 HGNC:2588 +HGNC:52509 CYMP-AS1 CYMP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Antisense RNAs 1987 2016-11-08 2016-11-08 440602 ENSG00000235407 OTTHUMG00000022783 NR_108042 HGNC:52509 +HGNC:2595 CYP1A1 cytochrome P450 family 1 subfamily A member 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "P450DX|P1-450|P450-C|CP11" CYP1 "cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1|cytochrome P450, family 1, subfamily A, polypeptide 1" Cytochrome P450 family 1 1000 1986-01-01 2015-12-09 2021-05-26 1543 ENSG00000140465 OTTHUMG00000142812 uc002ayq.5 BC023019 NM_000499 "CCDS10268|CCDS81906" P04798 15128046 MGI:88588 RGD:2458 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP1A1|LRG_1262|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1262.xml" 108330 470158 objectId:1318 1.14.14.1 HGNC:2595 "ENST00000379727.8|NM_001319217.2" +HGNC:2596 CYP1A2 cytochrome P450 family 1 subfamily A member 2 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "P3-450|CP12" "cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2|cytochrome P450, family 1, subfamily A, polypeptide 2" Cytochrome P450 family 1 1000 1990-04-25 2015-12-09 2021-05-26 1544 ENSG00000140505 OTTHUMG00000172901 uc002ayr.2 AF182274 NM_000761 CCDS32293 P05177 15128046 MGI:88589 RGD:2459 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP1A2|LRG_1274|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1274.xml" 124060 284125 objectId:1319 1.14.14.1 HGNC:2596 "ENST00000343932.5|NM_000761.5" +HGNC:2597 CYP1B1 cytochrome P450 family 1 subfamily B member 1 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 CP1B GLC3A "cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)|cytochrome P450, family 1, subfamily B, polypeptide 1" Cytochrome P450 family 1 1000 1994-12-20 2015-12-09 2021-05-26 1545 ENSG00000138061 OTTHUMG00000100970 uc032njx.2 U56438 NM_000104 CCDS1793 Q16678 "8175734|15128046" MGI:88590 RGD:2460 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP1B1 601771 120977 objectId:1320 HGNC:2597 "ENST00000610745.5|NM_000104.4" HGNC:2597 +HGNC:28543 CYP1B1-AS1 CYP1B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p22.2 02p22.2 MGC34824 C2orf58 "chromosome 2 open reading frame 58|CYP1B1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2007-06-14 2011-04-28 2012-08-15 2014-11-19 285154 ENSG00000232973 OTTHUMG00000128569 uc061ihc.1 BC031410 NR_027252 12477932 CYP1B1-AS1 HGNC:28543 +HGNC:39968 CYP1D1P cytochrome P450 family 1 subfamily D member 1, pseudogene pseudogene pseudogene Approved 9q21.13 09q21.13 CYP1A8P cytochrome P450, family 1, subfamily D, polypeptide 1, pseudogene Cytochrome P450 family 1 1000 2011-07-29 2015-12-09 2015-12-09 100133307 ENSG00000228024 OTTHUMG00000020017 NG_023158 PGOHUM00000236640 HGNC:39968 +HGNC:2610 CYP2A6 cytochrome P450 family 2 subfamily A member 6 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "CPA6|CYP2A" CYP2A3 "cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6|cytochrome P450, family 2, subfamily A, polypeptide 6" Cytochrome P450 family 2 1001 1994-12-20 2015-12-09 2021-05-26 1548 ENSG00000255974 OTTHUMG00000182713 uc002opl.4 AF182275 NM_000762 CCDS12568 P11509 "7668294|2748347" "MGI:88596|MGI:88597|MGI:105055|MGI:3648316" PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2A6 122720 objectId:1321 HGNC:2610 "ENST00000301141.10|NM_000762.6" HGNC:2610 +HGNC:2611 CYP2A7 cytochrome P450 family 2 subfamily A member 7 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CYP2A "cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7|cytochrome P450, family 2, subfamily A, polypeptide 7" Cytochrome P450 family 2 1001 1995-12-13 2015-12-09 2019-09-13 1549 ENSG00000198077 OTTHUMG00000182715 uc002opm.3 NM_030589 CCDS12569 P20853 "7668294|15128046" "MGI:88596|MGI:105055|MGI:3648316" RGD:2465 608054 objectId:1322 HGNC:2611 "ENST00000301146.9|NM_000764.3" +HGNC:2612 CYP2A7P1 cytochrome P450 family 2 subfamily A member 7 pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 "CYP2A18PN|CYP2A7PT" cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7, pseudogene 1 Cytochrome P450 family 2 1001 1995-12-13 2015-12-09 2017-03-23 1550 ENSG00000213908 OTTHUMG00000182830 U22030 NG_029327 7668294 PGOHUM00000263648 HGNC:2612 +HGNC:2613 CYP2A7P2 cytochrome P450 family 2 subfamily A member 7 pseudogene 2 pseudogene pseudogene Approved 19q13.2 19q13.2 CYP2A18PC cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7, pseudogene 2 1995-12-13 2003-01-14 2017-03-23 ENSG00000198251 OTTHUMG00000182829 7668294 PGOHUM00000295008 +HGNC:2608 CYP2A13 cytochrome P450 family 2 subfamily A member 13 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "CPAD|CYP2A" "cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13|cytochrome P450, family 2, subfamily A, polypeptide 13" Cytochrome P450 family 2 1001 1995-12-13 2015-12-09 2019-10-07 1553 ENSG00000197838 OTTHUMG00000182762 uc002opt.5 U22028 NM_000766 CCDS12571 Q16696 "7668294|15128046" "MGI:88596|MGI:88597|MGI:105055|MGI:3648316" PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2A13 608055 objectId:1323 HGNC:2608 "ENST00000330436.4|NM_000766.5" +HGNC:39975 CYP2AB1P cytochrome P450 family 2 subfamily AB member 1, pseudogene pseudogene pseudogene Approved 3q27.1 03q27.1 cytochrome P450, family 2, subfamily AB, polypeptide 1, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 647265 ENSG00000233441 OTTHUMG00000156889 NG_046139 MGI:3644957 PGOHUM00000299299 HGNC:39975 +HGNC:39976 CYP2AC1P cytochrome P450 family 2 subfamily AC member 1, pseudogene pseudogene pseudogene Approved 6p12.3 06p12.3 cytochrome P450, family 2, subfamily AC, polypeptide 1, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 106478960 ENSG00000216998 OTTHUMG00000014821 NG_045223 HGNC:39976 +HGNC:2615 CYP2B6 cytochrome P450 family 2 subfamily B member 6 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "CPB6|CYPIIB6" CYP2B "cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6|cytochrome P450, family 2, subfamily B|cytochrome P450, subfamily IIB (phenobarbital-inducible)|cytochrome P450, family 2, subfamily B, polypeptide 6" Cytochrome P450 family 2 1001 1995-12-13 2015-12-09 2021-05-26 1555 ENSG00000197408 OTTHUMG00000182714 uc002opr.2 AF182277 NM_000767 CCDS12570 P20813 "7668294|15128046" "MGI:88598|MGI:88599|MGI:88600|MGI:107303|MGI:3646735" RGD:628627 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2B6|LRG_1267|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1267.xml" 123930 241987 objectId:1324 HGNC:2615 "ENST00000324071.10|NM_000767.5" +HGNC:2616 CYP2B7P cytochrome P450 family 2 subfamily B member 7, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 CYP2B CYP2B7P1 "cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1|cytochrome P450, family 2, subfamily B, polypeptide 7, pseudogene" Cytochrome P450 family 2 1001 1995-12-13 2013-11-15 2015-12-09 2015-12-09 1556 ENSG00000256612 OTTHUMG00000182706 BC041174 NR_001278 "7668294|15128046" PGOHUM00000234698 HGNC:2616 +HGNC:2622 CYP2C8 cytochrome P450 family 2 subfamily C member 8 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 CPC8 "cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8|cytochrome P450, family 2, subfamily C, polypeptide 8" Cytochrome P450 family 2 1001 1991-07-31 2015-12-09 2019-10-07 1558 ENSG00000138115 OTTHUMG00000018804 uc001kkb.4 M17397 NM_000770 "CCDS73166|CCDS7438|CCDS55721" P10632 7841444 "MGI:1917138|MGI:1919553" RGD:1308166 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2C8 601129 470162 objectId:1325 HGNC:2622 "ENST00000371270.6|NM_000770.3" +HGNC:2623 CYP2C9 cytochrome P450 family 2 subfamily C member 9 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 P450IIC9 CYP2C10 "cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9|cytochrome P450, family 2, subfamily C, polypeptide 9" Cytochrome P450 family 2 1001 1992-04-06 2015-12-09 2021-05-26 1559 ENSG00000138109 OTTHUMG00000018805 uc001kka.5 M61855 NM_000771 CCDS7437 P11712 "2009263|7841444" "MGI:103238|MGI:1306806|MGI:1306815|MGI:1306818|MGI:1306819|MGI:2147497|MGI:3612287|MGI:3612288|MGI:3642960|MGI:3721049" "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2C9|LRG_1195|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1195.xml" 601130 241965 objectId:1326 HGNC:2623 "ENST00000260682.8|NM_000771.4" +HGNC:2620 CYP2C18 cytochrome P450 family 2 subfamily C member 18 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "P450IIC17|CPCI|CYP2C" CYP2C17 "cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18|cytochrome P450, family 2, subfamily C, polypeptide 18" Cytochrome P450 family 2 1001 1992-02-12 2015-12-09 2016-10-05 1562 ENSG00000108242 OTTHUMG00000018796 uc001kjv.6 M61853 NM_000772 "CCDS7435|CCDS44460" P33260 "1896026|2009263" MGI:1919332 RGD:1563697 601131 objectId:1327 HGNC:2620 "ENST00000285979.11|NM_000772.3" +HGNC:2621 CYP2C19 cytochrome P450 family 2 subfamily C member 19 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "P450IIC19|CPCJ" CYP2C "cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19|cytochrome P450, family 2, subfamily C, polypeptide 19" Cytochrome P450 family 2 1001 1992-04-06 2015-12-09 2021-05-26 1557 ENSG00000165841 OTTHUMG00000018799 uc010qnz.3 M61854 NM_000769 CCDS7436 P33261 "2009263|8530044" "MGI:103238|MGI:1306806|MGI:1306815|MGI:1306818|MGI:1306819|MGI:1917138|MGI:1919553|MGI:2147497|MGI:3612287|MGI:3612288|MGI:3642960|MGI:3721049" RGD:619934 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2C19|LRG_584|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_584.xml" 124020 241960 objectId:1328 HGNC:2621 "ENST00000371321.9|NM_000769.4" +HGNC:39970 CYP2C23P cytochrome P450 family 2 subfamily C member 23, pseudogene pseudogene pseudogene Approved 10q24.2 10q24.2 CYP2C62P "cytochrome P450, family 2, subfamily C, polypeptide 62, pseudogene|cytochrome P450, family 2, subfamily C, polypeptide 23, pseudogene" Cytochrome P450 family 2 1001 2011-07-29 2013-07-30 2015-12-09 2017-10-18 107436076 ENSG00000283232 OTTHUMG00000191789 NG_055577 MGI:1888897 HGNC:39970 +HGNC:39971 CYP2C56P cytochrome P450 family 2 subfamily C member 56, pseudogene pseudogene pseudogene Approved 2q24.3 02q24.3 CYP2C-se1[7] cytochrome P450, family 2, subfamily C, polypeptide 56, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 106478959 ENSG00000229641 OTTHUMG00000153935 NG_043798 PGOHUM00000241006 HGNC:39971 +HGNC:39969 CYP2C58P cytochrome P450 family 2 subfamily C member 58, pseudogene pseudogene pseudogene Approved 10q23.33 10q23.33 cytochrome P450, family 2, subfamily C, polypeptide 58, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 106480430 ENSG00000235199 OTTHUMG00000018797 NG_043298 HGNC:39969 +HGNC:42406 CYP2C59P cytochrome P450 family 2 subfamily C member 59, pseudogene pseudogene pseudogene Approved 10q23.33 10q23.33 CYP2C9-de2c3c cytochrome P450, family 2, subfamily C, polypeptide 59, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 100874505 ENSG00000228460 OTTHUMG00000018802 NG_032713 PGOHUM00000238595 HGNC:42406 +HGNC:42410 CYP2C60P cytochrome P450 family 2 subfamily C member 60, pseudogene pseudogene pseudogene Approved 10q23.33 10q23.33 CYP2C8-de6b cytochrome P450, family 2, subfamily C, polypeptide 60, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 106480748 ENSG00000260863 OTTHUMG00000172690 NG_043778 HGNC:42410 +HGNC:39972 CYP2C61P cytochrome P450 family 2 subfamily C member 61, pseudogene pseudogene pseudogene Approved 10q21.3 10q21.3 CYP2C-se2[1:2] cytochrome P450, family 2, subfamily C, polypeptide 61, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 106480734 ENSG00000270648 OTTHUMG00000184693 NG_043673 PGOHUM00000238505 HGNC:39972 +HGNC:42411 CYP2C63P cytochrome P450 family 2 subfamily C member 63, pseudogene pseudogene pseudogene Approved 21q21.3 21q21.3 CYP2C-se3[1] cytochrome P450, family 2, subfamily C, polypeptide 63, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 107063541 NG_046359 HGNC:42411 +HGNC:39974 CYP2C64P cytochrome P450 family 2 subfamily C member 64, pseudogene pseudogene pseudogene Approved Xq28 Xq28 CYP2C-se4[1] cytochrome P450, family 2, subfamily C, polypeptide 64, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 112499600 NG_012551 PGOHUM00000242077 HGNC:39974 +HGNC:42405 CYP2C115P cytochrome P450 family 2 subfamily C member 115, pseudogene pseudogene pseudogene Approved 10q23.33 10q23.33 CYP2C9-de1b cytochrome P450, family 2, subfamily C, polypeptide 115, pseudogene Cytochrome P450 family 2 1001 2011-07-29 2015-12-09 2015-12-09 100874513 NG_032714 PGOHUM00000238895 HGNC:42405 +HGNC:2625 CYP2D6 cytochrome P450 family 2 subfamily D member 6 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "CPD6|P450-DB1|CYP2D|P450C2D" "CYP2DL1|CYP2D7P2|CYP2D7BP|CYP2D8P2|CYP2D7AP" "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2|cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2|cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2|cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2|cytochrome P450, family 2, subfamily D, polypeptide 6" Cytochrome P450 family 2 1001 1992-04-07 2015-12-09 2021-05-26 1565 ENSG00000100197 OTTHUMG00000150918 uc003bce.4 M20403 NM_000106 "CCDS33657|CCDS46721" P10635 8449513 "MGI:88602|MGI:88603|MGI:88604|MGI:88606|MGI:1919004|MGI:1923529|MGI:1929474|MGI:2385022" RGD:620640 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2D6|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_303|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_303.xml" 124030 241953 objectId:1329 HGNC:2625 "ENST00000645361.2|NM_000106.6" +HGNC:2624 CYP2D7 cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "CYP2D|CYP2D@|CYP2D7P1|CYP2D7P" "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing) cluster|cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1|cytochrome P450, family 2, subfamily D, polypeptide 7 (gene/pseudogene)" Cytochrome P450 family 2 1001 1986-01-01 2014-10-14 2015-12-09 2015-12-09 1564 ENSG00000205702 OTTHUMG00000030222 M33387 NR_002570 A0A087X1C5 17494644 MGI:1929474 RGD:708427 HGNC:2624 +HGNC:2628 CYP2D8P ccytochrome P450 family 2 subfamily D member 8, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 "CYP2DP1|CYP2D8P1" "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 8 pseudogene 1|cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 1|cytochrome P450, family 2, subfamily D, polypeptide 8, pseudogene" Cytochrome P450 family 2 1001 1992-04-07 2013-11-15 2015-12-09 2015-12-09 1568 ENSG00000226450 OTTHUMG00000150922 M33387 NG_000854 1766873 PGOHUM00000259709 HGNC:2628 +HGNC:2631 CYP2E1 cytochrome P450 family 2 subfamily E member 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 CYP2E "cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1|cytochrome P450, family 2, subfamily E, polypeptide 1" Cytochrome P450 family 2 1001 1988-03-03 2002-09-13 2015-12-09 2019-10-07 1571 ENSG00000130649 OTTHUMG00000019322 uc057xaa.1 J02843 NM_000773 CCDS7686 P05181 MGI:88607 RGD:2475 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2E1 124040 objectId:1330 HGNC:2631 "ENST00000252945.8|NM_000773.4" +HGNC:2632 CYP2F1 cytochrome P450 family 2 subfamily F member 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CYP2F "cytochrome P450, subfamily IIF, polypeptide 1|cytochrome P450, family 2, subfamily F, polypeptide 1" Cytochrome P450 family 2 1001 1990-09-30 2015-12-09 2019-10-07 1572 ENSG00000197446 OTTHUMG00000167412 uc002opu.2 J02906 NM_000774 CCDS12572 P24903 MGI:88608 RGD:2476 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2F1 124070 objectId:1331 HGNC:2632 "ENST00000331105.7|NM_000774.5" +HGNC:18851 CYP2F2P cytochrome P450 family 2 subfamily F member 2, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 CYP2F1P "cytochrome P450, subfamily IIF, polypeptide 1 pseudogene|cytochrome P450, family 2, subfamily F, polypeptide 1 pseudogene|cytochrome P450, family 2, subfamily F, polypeptide 2, pseudogene" Cytochrome P450 family 2 1001 2002-07-05 2013-11-15 2015-12-09 2020-08-13 171427 ENSG00000237118 OTTHUMG00000154548 AF372495 NG_029339 11827709 MGI:88608 HGNC:18851 +HGNC:2633 CYP2G1P cytochrome P450 family 2 subfamily G member 1, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 CYP2GP1 CYP2G1 cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene Cytochrome P450 family 2 1001 1999-10-05 2004-10-15 2015-12-09 2015-12-09 22952 ENSG00000130612 OTTHUMG00000182772 AF274766 NR_040249 Q6ZSU1 "8561797|11186129" MGI:109612 RGD:2477 601133 HGNC:2633 +HGNC:15653 CYP2G2P cytochrome P450 family 2 subfamily G member 2, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 CYP2GP2 CYP2G2 "cytochrome P450, family 2, subfamily G, polypeptide 2|cytochrome P450, family 2, subfamily G, polypeptide 2 pseudogene" Cytochrome P450 family 2 1001 2001-05-01 2004-10-15 2015-12-09 2015-12-09 83757 ENSG00000268101 OTTHUMG00000182851 AF274762 NG_029337 "11186129|15128046" PGOHUM00000263649 HGNC:15653 +HGNC:2634 CYP2J2 cytochrome P450 family 2 subfamily J member 2 protein-coding gene gene with protein product Approved 1p32.1 01p32.1 "cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2|cytochrome P450, family 2, subfamily J, polypeptide 2" Cytochrome P450 family 2 1001 1996-06-21 2015-12-09 2019-10-07 1573 ENSG00000134716 OTTHUMG00000008991 uc001czq.4 BC032594 NM_000775 CCDS613 P51589 9570962 "MGI:1270148|MGI:1270149|MGI:1921769|MGI:2140224|MGI:2385197|MGI:2449817|MGI:3717097" RGD:620007 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2J2 601258 470164 objectId:1332 HGNC:2634 "ENST00000371204.4|NM_000775.4" +HGNC:20580 CYP2R1 cytochrome P450 family 2 subfamily R member 1 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 Vitamin D 25-hydroxylase cytochrome P450, family 2, subfamily R, polypeptide 1 Cytochrome P450 family 2 1001 2004-03-11 2015-12-09 2021-05-26 120227 ENSG00000186104 OTTHUMG00000165900 uc001mlr.4 AY323817 NM_024514 CCDS7818 Q6VVX0 "12464240|12867411" MGI:2449771 RGD:1311866 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2R1 608713 121000 objectId:1333 1.14.14.24 HGNC:20580 "ENST00000334636.10|NM_024514.5" HGNC:20580 +HGNC:15654 CYP2S1 cytochrome P450 family 2 subfamily S member 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "cytochrome P450, subfamily IIS, polypeptide 1|cytochrome P450, family 2, subfamily S, polypeptide 1" Cytochrome P450 family 2 1001 2001-05-01 2015-12-09 2019-10-07 29785 ENSG00000167600 OTTHUMG00000182721 uc002opw.4 AA301039 NM_030622 CCDS12573 Q96SQ9 11181079 MGI:1921384 RGD:1306078 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2S1 611529 objectId:1334 HGNC:15654 "ENST00000310054.9|NM_030622.8" +HGNC:18852 CYP2T1P cytochrome P450 family 2 subfamily T member 1, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 CYP2T2P "cytochrome P450, subfamily IIT, polypeptide 2 pseudogene|cytochrome P450, family 2, subfamily T, polypeptide 2, pseudogene|cytochrome P450, family 2, subfamily T, polypeptide 1, pseudogene" Cytochrome P450 family 2 1001 2002-07-05 2014-11-25 2015-12-09 2020-08-14 171523 ENSG00000233622 OTTHUMG00000154549 NR_144551 11692077 MGI:2686296 PGOHUM00000234318 HGNC:18852 +HGNC:18853 CYP2T3P cytochrome P450 family 2 subfamily T member 3, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 "cytochrome P450, subfamily IIT, polypeptide 3 pseudogene|cytochrome P450, family 2, subfamily T, polypeptide 3, pseudogene" Cytochrome P450 family 2 1001 2002-07-05 2015-12-09 2015-12-09 163007 ENSG00000268529 OTTHUMG00000182855 AC008962 NG_029338 11692077 PGOHUM00000234700 HGNC:18853 +HGNC:20582 CYP2U1 cytochrome P450 family 2 subfamily U member 1 protein-coding gene gene with protein product Approved 4q25 04q25 SPG49 spastic paraplegia 49 SPG56 "cytochrome P450, family 2, subfamily U, polypeptide 1|spastic paraplegia 56 (autosomal dominant)" Cytochrome P450 family 2 1001 2004-03-11 2015-12-09 2021-05-26 113612 ENSG00000155016 OTTHUMG00000161084 uc003hyp.4 BC012027 NM_183075 CCDS34047 Q7Z449 "14975754|14660610|24337409" MGI:1918769 RGD:1309433 610670 321573 objectId:1335 HGNC:20582 "ENST00000332884.11|NM_183075.3" HGNC:20582 +HGNC:54817 CYP2U1-AS1 CYP2U1 and SGMS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q25 04q25 Antisense RNAs 1987 2020-01-17 2020-07-16 101929595 ENSG00000245293 NR_125929 32079618 +HGNC:20243 CYP2W1 cytochrome P450 family 2 subfamily W member 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "FLJ20359|MGC34287" cytochrome P450, family 2, subfamily W, polypeptide 1 Cytochrome P450 family 2 1001 2004-07-05 2015-12-09 2019-10-07 54905 ENSG00000073067 OTTHUMG00000074071 uc003sjq.1 AK000366 NM_017781 CCDS5319 Q8TAV3 MGI:3616076 RGD:1305193 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP2W1 615967 objectId:1336 HGNC:20243 "ENST00000308919.12|NM_017781.3" +HGNC:2637 CYP3A4 cytochrome P450 family 3 subfamily A member 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 CYP3A3 "cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4|cytochrome P450, family 3, subfamily A, polypeptide 4" Cytochrome P450 family 3 1002 1990-02-24 2015-12-09 2021-05-26 1576 ENSG00000160868 OTTHUMG00000156651 uc064fwx.1 AF280107 NM_001202855 CCDS5674 P08684 "8269949|1391968" "MGI:88609|MGI:88610|MGI:1858451|MGI:1930638|MGI:2449818|MGI:3646373|MGI:3769707" PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP3A4 124010 423802 objectId:1337 1.1.1.161 HGNC:2637 "ENST00000651514.1|NM_017460.6" HGNC:2637 +HGNC:2638 CYP3A5 cytochrome P450 family 3 subfamily A member 5 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "PCN3|P450PCN3|CP35" "cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5|cytochrome P450, family 3, subfamily A, polypeptide 5" Cytochrome P450 family 3 1002 1990-02-24 2015-12-09 2021-05-26 1577 ENSG00000106258 OTTHUMG00000156724 uc003urq.4 L26985 NM_000777 "CCDS55134|CCDS5672" P20815 "MGI:88609|MGI:88610|MGI:106099|MGI:1858451|MGI:1930638|MGI:2449818|MGI:3646373|MGI:3769707" RGD:708392 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP3A5|LRG_1431|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1431.xml" 605325 241994 objectId:1338 HGNC:2638 "ENST00000222982.8|NM_000777.5" +HGNC:2640 CYP3A7 cytochrome P450 family 3 subfamily A member 7 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CP37|P450-HFLA" "cytochrome P450, subfamily IIIA, polypeptide 7|cytochrome P450, family 3, subfamily A, polypeptide 7" Cytochrome P450 family 3 1002 1992-09-14 2015-12-09 2019-10-07 1551 ENSG00000160870 OTTHUMG00000156726 uc003uru.4 AF315325 NM_000765 CCDS5673 P24462 2722762 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP3A7 605340 objectId:1339 HGNC:2640 "ENST00000336374.4|NM_000765.5" +HGNC:51504 CYP3A7-CYP3A51P CYP3A7-CYP3A51P readthrough other readthrough Approved 7q22.1 07q22.1 2015-01-19 2015-07-22 100861540 ENSG00000282301 OTTHUMG00000191417 NM_001256497 CCDS75639 MGI:88610 HGNC:51504 +HGNC:17450 CYP3A43 cytochrome P450 family 3 subfamily A member 43 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "cytochrome P450, subfamily IIIA, polypeptide 43|cytochrome P450, family 3, subfamily A, polypeptide 43" Cytochrome P450 family 3 1002 2002-07-05 2015-12-09 2019-10-07 64816 ENSG00000021461 OTTHUMG00000156498 uc003urx.3 AF319634 NM_001278921 "CCDS5677|CCDS64723|CCDS5675|CCDS5676" Q9HB55 "11160876|11266076" "MGI:88609|MGI:88610|MGI:106099|MGI:1858451|MGI:1930638|MGI:2449818|MGI:3646373|MGI:3769707" RGD:628709 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP3A43 606534 objectId:1340 HGNC:17450 "ENST00000354829.7|NM_057095.3" +HGNC:42418 CYP3A51P cytochrome P450 family 3 subfamily A member 51, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 "CYP3A5-de13c|CYP3A5-de1b2b" CYP3A5P1 cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene Cytochrome P450 family 3 1002 2011-07-29 2015-12-09 2020-04-20 1578 ENSG00000282277 OTTHUMG00000191416 NG_000856 15937338 PGOHUM00000232935 HGNC:42418 +HGNC:42412 CYP3A52P cytochrome P450 family 3 subfamily A member 52, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 CYP3A43-de4c6c cytochrome P450, family 3, subfamily A, polypeptide 52, pseudogene Cytochrome P450 family 3 1002 2011-07-29 2015-12-09 2015-12-09 106478983 ENSG00000260524 OTTHUMG00000172692 NG_045113 HGNC:42412 +HGNC:42413 CYP3A54P cytochrome P450 family 3 subfamily A member 54, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 CYP3A-se1[2] cytochrome P450, family 3, subfamily A, polypeptide 54, pseudogene Cytochrome P450 family 3 1002 2011-07-29 2015-12-09 2015-12-09 106480749 ENSG00000261809 OTTHUMG00000172693 NG_043787 HGNC:42413 +HGNC:42419 CYP3A137P cytochrome P450 family 3 subfamily A member 137, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 CYP3A43-de1b cytochrome P450, family 3, subfamily A, polypeptide 137, pseudogene Cytochrome P450 family 3 1002 2011-07-29 2015-12-09 2015-12-09 107063543 ENSG00000261511 OTTHUMG00000172706 NG_046361 HGNC:42419 +HGNC:2642 CYP4A11 cytochrome P450 family 4 subfamily A member 11 protein-coding gene gene with protein product Approved 1p33 01p33 CYP4AII CYP4A2 "cytochrome P450, subfamily IVA, polypeptide 11|cytochrome P450, family 4, subfamily A, polypeptide 11" Cytochrome P450 family 4 1003 1993-06-21 2015-12-09 2019-10-07 1579 ENSG00000187048 OTTHUMG00000008020 uc001cqp.5 L04751 NM_000778 "CCDS543|CCDS85973" Q02928 7679927 "MGI:88611|MGI:88612|MGI:1096550|MGI:3028580|MGI:3611747|MGI:3717143|MGI:3717145|MGI:3717148" PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4A11/ 601310 objectId:1341 HGNC:2642 "ENST00000310638.9|NM_000778.4" +HGNC:20575 CYP4A22 cytochrome P450 family 4 subfamily A member 22 protein-coding gene gene with protein product Approved 1p33 01p33 cytochrome P450, family 4, subfamily A, polypeptide 22 Cytochrome P450 family 4 1003 2004-07-05 2015-12-09 2019-10-07 284541 ENSG00000162365 OTTHUMG00000007845 uc001cqv.2 NM_001010969 "CCDS30707|CCDS76160" Q5TCH4 "MGI:88611|MGI:88612|MGI:1096550|MGI:3028580|MGI:3611747|MGI:3717143|MGI:3717145|MGI:3717148" RGD:68945 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4A22 615341 objectId:1342 HGNC:20575 "ENST00000371891.8|NM_001010969.4" +HGNC:43715 CYP4A22-AS1 CYP4A22 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 ncRNA-a3 CYP4A22 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-02 2012-08-15 2014-10-22 104355148 ENSG00000225506 OTTHUMG00000007848 uc057ghd.1 BQ688560 20887892 cyp4a22-as1 CYP4A22-AS1 +HGNC:39980 CYP4A26P cytochrome P450 family 4 subfamily A member 26, pseudogene pseudogene pseudogene Approved 1p33 01p33 CYP4A-se1[12] cytochrome P450, family 4, subfamily A, polypeptide 26, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2016-01-13 107080641 ENSG00000259832 OTTHUMG00000172700 NG_046399 HGNC:39980 +HGNC:42414 CYP4A27P cytochrome P450 family 4 subfamily A member 27, pseudogene pseudogene pseudogene Approved 1p33 01p33 CYP4A-se3[12] cytochrome P450, family 4, subfamily A, polypeptide 27, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2016-01-13 100422288 ENSG00000261593 OTTHUMG00000172702 NG_026935 HGNC:42414 +HGNC:42417 CYP4A43P cytochrome P450 family 4 subfamily A member 43, pseudogene pseudogene pseudogene Approved 1p33 01p33 CYP4A-se2[1] cytochrome P450, family 4, subfamily A, polypeptide 43, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 100874495 ENSG00000261196 OTTHUMG00000172701 NG_047005 HGNC:42417 +HGNC:42416 CYP4A44P cytochrome P450 family 4 subfamily A member 44, pseudogene pseudogene pseudogene Approved 1p33 01p33 CYP4A-se4[2] cytochrome P450, family 4, subfamily A, polypeptide 44, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 106481791 ENSG00000261290 OTTHUMG00000172696 NG_043918 HGNC:42416 +HGNC:2644 CYP4B1 cytochrome P450 family 4 subfamily B member 1 protein-coding gene gene with protein product Approved 1p33 01p33 "cytochrome P450, subfamily IVB, polypeptide 1|cytochrome P450, family 4, subfamily B, polypeptide 1" Cytochrome P450 family 4 1003 1990-09-10 2015-12-09 2019-10-07 1580 ENSG00000142973 OTTHUMG00000007984 uc001cqm.5 BC017758 NM_000779 "CCDS41328|CCDS542|CCDS81318" P13584 MGI:103225 RGD:2480 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4B1 124075 objectId:1343 HGNC:2644 "ENST00000371923.9|NM_001099772.2" +HGNC:2645 CYP4F2 cytochrome P450 family 4 subfamily F member 2 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "cytochrome P450, subfamily IVF, polypeptide 2|cytochrome P450, family 4, subfamily F, polypeptide 2" Cytochrome P450 family 4 1003 1998-10-07 2015-12-09 2019-10-07 8529 ENSG00000186115 OTTHUMG00000185995 uc002nbs.2 U02388 NM_001082 CCDS12336 P78329 "8424651|8026587" "MGI:1927669|MGI:2146921|MGI:3645508" PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP4F2 604426 286575 objectId:1344 HGNC:2645 "ENST00000221700.11|NM_001082.5" +HGNC:2646 CYP4F3 cytochrome P450 family 4 subfamily F member 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 CYP4F LTB4H "cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)|cytochrome P450, family 4, subfamily F, polypeptide 3" Cytochrome P450 family 4 1003 1995-12-15 2015-12-09 2017-07-12 4051 ENSG00000186529 OTTHUMG00000182374 uc002nbj.4 AB002454 NM_000896 "CCDS12332|CCDS59362" Q08477 "8486631|9539102" MGI:1919304 RGD:1305261 601270 objectId:1345 HGNC:2646 "ENST00000221307.13|NM_000896.3" +HGNC:2648 CYP4F8 cytochrome P450 family 4 subfamily F member 8 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "cytochrome P450, subfamily IVF, polypeptide 8|cytochrome P450, family 4, subfamily F, polypeptide 8" Cytochrome P450 family 4 1003 1999-09-20 2015-12-09 2015-12-09 11283 ENSG00000186526 OTTHUMG00000182386 uc032hoh.2 AF133298 NM_007253 CCDS74303 P98187 10405341 MGI:1927669 611545 PGOHUM00000263459 objectId:1346 HGNC:2648 "ENST00000612078.5|NM_007253.4" +HGNC:39940 CYP4F9P cytochrome P450 family 4 subfamily F member 9, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 cytochrome P450, family 4, subfamily F, polypeptide 9, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2020-04-20 105369296 ENSG00000267392 OTTHUMG00000182269 NG_056701 PGOHUM00000294900 HGNC:39940 +HGNC:39943 CYP4F10P cytochrome P450 family 4 subfamily F member 10, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 cytochrome P450, family 4, subfamily F, polypeptide 10, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 646575 ENSG00000267241 OTTHUMG00000182388 NG_032152 PGOHUM00000234532 HGNC:39943 +HGNC:13265 CYP4F11 cytochrome P450 family 4 subfamily F member 11 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "cytochrome P450, subfamily IVF, polypeptide 11|cytochrome P450, family 4, subfamily F, polypeptide 11" Cytochrome P450 family 4 1003 2001-05-17 2015-12-09 2016-10-05 57834 ENSG00000171903 OTTHUMG00000182294 uc002nbu.3 AF236085 NM_021187 CCDS12337 Q9HBI6 "10964514|9068972" "MGI:1927669|MGI:2146921|MGI:3645508" 611517 objectId:1347 HGNC:13265 "ENST00000402119.9|NM_021187.4" +HGNC:18857 CYP4F12 cytochrome P450 family 4 subfamily F member 12 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "cytochrome P450, subfamily IVF, polypeptide 12|cytochrome P450, family 4, subfamily F, polypeptide 12" Cytochrome P450 family 4 1003 2002-07-05 2015-12-09 2016-10-05 66002 ENSG00000186204 OTTHUMG00000164477 uc002nbl.4 AB035130 NM_023944 CCDS42517 Q9HCS2 11162607 "MGI:1927669|MGI:2146921|MGI:3645508" RGD:70926 611485 objectId:1348 HGNC:18857 "ENST00000550308.6|NM_023944.4" +HGNC:26820 CYP4F22 cytochrome P450 family 4 subfamily F member 22 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ39501 cytochrome P450, family 4, subfamily F, polypeptide 22 Cytochrome P450 family 4 1003 2007-05-18 2015-12-09 2021-05-26 126410 ENSG00000171954 OTTHUMG00000182451 uc002nbh.5 NM_173483 CCDS12331 Q6NT55 16436457 MGI:2445210 RGD:1308796 611495 160003 objectId:1349 HGNC:26820 "ENST00000269703.8|NM_173483.4" HGNC:26820 +HGNC:39944 CYP4F23P cytochrome P450 family 4 subfamily F member 23, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 cytochrome P450, family 4, subfamily F, polypeptide 23, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 100422238 ENSG00000269516 OTTHUMG00000182453 NG_024224 PGOHUM00000234531 HGNC:39944 +HGNC:39945 CYP4F24P cytochrome P450 family 4 subfamily F member 24, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 388514 ENSG00000267594 OTTHUMG00000182391 NR_033864 PGOHUM00000263634 HGNC:39945 +HGNC:39949 CYP4F25P cytochrome P450 family 4 subfamily F member 25, pseudogene pseudogene pseudogene Approved 9q13 09q13 CYP4F-se1[6:8] cytochrome P450, family 4, subfamily F, polypeptide 25, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2016-10-05 100288827 ENSG00000224106 OTTHUMG00000067335 NG_030091 PGOHUM00000236616 HGNC:39949 +HGNC:39948 CYP4F26P cytochrome P450 family 4 subfamily F member 26, pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 CYP4F-se2[6] cytochrome P450, family 4, subfamily F, polypeptide 26, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 106478958 ENSG00000226562 OTTHUMG00000000405 uc064sqh.1 NG_045577 PGOHUM00000236437 HGNC:39948 +HGNC:39946 CYP4F27P cytochrome P450 family 4 subfamily F member 27, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 CYP4F-se3[6:7:8] cytochrome P450, family 4, subfamily F, polypeptide 27, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 107133494 ENSG00000248313 OTTHUMG00000153629 NG_046652 PGOHUM00000240293 HGNC:39946 +HGNC:2647 CYP4F29P cytochrome P450 family 4 subfamily F member 29, pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 CYP4F-se4[6:7:8] "C21orf15|CYP4F3LP" "cytochrome P450, subfamily IVF, polypeptide 3-like pseudogene|chromosome 21 open reading frame 15|cytochrome P450, family 4, subfamily F, polypeptide 3-like pseudogene|cytochrome P450, family 4, subfamily F, polypeptide 29, pseudogene" Cytochrome P450 family 4 1003 2000-05-23 2011-07-29 2015-12-09 2016-10-05 54055 ENSG00000228314 OTTHUMG00000074229 NG_000927 PGOHUM00000239026 HGNC:2647 +HGNC:25270 CYP4F30P cytochrome P450 family 4 subfamily F member 30, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 "DKFZp434F1719|4F-se9[6:7:8]" C2orf14 "chromosome 2 open reading frame 14|cytochrome P450, family 4, subfamily F, polypeptide 30, pseudogene" Cytochrome P450 family 4 1003 2004-01-09 2011-07-29 2015-12-09 2020-04-20 100132708 ENSG00000214081 OTTHUMG00000154046 AK093281 NR_023391 Q9H0H9 PGOHUM00000240934 HGNC:25270 +HGNC:39955 CYP4F31P cytochrome P450 family 4 subfamily F member 31, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 CYP4F-se10[6:7:8] cytochrome P450, family 4, subfamily F, polypeptide 31, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 107403068 NG_046788 PGOHUM00000298719 HGNC:39955 +HGNC:39951 CYP4F32P cytochrome P450 family 4 subfamily F member 32, pseudogene pseudogene pseudogene Approved 2q11.1 02q11.1 CYP4F-se5[6:8] cytochrome P450, family 4, subfamily F, polypeptide 32, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 107133497 ENSG00000223564 OTTHUMG00000155129 NG_046655 PGOHUM00000240184 HGNC:39951 +HGNC:39952 CYP4F33P cytochrome P450 family 4 subfamily F member 33, pseudogene pseudogene pseudogene Approved 9p13.1 09p13.1 CYP4F-se6[6] cytochrome P450, family 4, subfamily F, polypeptide 33, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2021-07-20 107133499 ENSG00000273036 OTTHUMG00000172707 NG_046657 HGNC:39952 +HGNC:39953 CYP4F34P cytochrome P450 family 4 subfamily F member 34, pseudogene pseudogene pseudogene Approved 13q11 13q11 CYP4F-se7[6:7:8] cytochrome P450, family 4, subfamily F, polypeptide 34, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 100422247 ENSG00000244155 OTTHUMG00000016466 NG_024825 PGOHUM00000248289 HGNC:39953 +HGNC:39954 CYP4F35P cytochrome P450 family 4 subfamily F member 35, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 CYP4F-se8[6:7:8] cytochrome P450, family 4, subfamily F, polypeptide 35, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 284233 ENSG00000265787 OTTHUMG00000178670 uc002ktb.3 NR_026756 PGOHUM00000235016 HGNC:39954 +HGNC:42407 CYP4F36P cytochrome P450 family 4 subfamily F member 36, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 CYP4F2-de12b cytochrome P450, family 4, subfamily F, polypeptide 36, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 100422235 ENSG00000273330 OTTHUMG00000182289 NG_024156 PGOHUM00000294897 HGNC:42407 +HGNC:39957 CYP4F44P cytochrome P450 family 4 subfamily F member 44, pseudogene pseudogene pseudogene Approved 8p11.1 08p11.1 CYP4F-se12[6:8] cytochrome P450, family 4, subfamily F, polypeptide 44, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 106480733 ENSG00000253748 OTTHUMG00000164117 NG_043667 PGOHUM00000249642 HGNC:39957 +HGNC:39950 CYP4F45P cytochrome P450 family 4 subfamily F member 45, pseudogene pseudogene pseudogene Approved 9p12 09p12 CYP4F-se13[6:8] cytochrome P450, family 4, subfamily F, polypeptide 45, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 112552146 NG_066030 PGOHUM00000236504 HGNC:39950 +HGNC:39947 CYP4F59P cytochrome P450 family 4 subfamily F member 59, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 CYP4F-se14[6:8] cytochrome P450, family 4, subfamily F, polypeptide 59, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2021-07-20 100132340 ENSG00000274628 NG_031982 PGOHUM00000303907 HGNC:39947 +HGNC:42468 CYP4F60P cytochrome P450 family 4 subfamily F member 60, pseudogene pseudogene pseudogene Approved 9p11.1 09p11.1 CYP4F-se15[6:7:8] cytochrome P450, family 4, subfamily F, polypeptide 60, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2016-10-05 107126294 ENSG00000230635 OTTHUMG00000188575 NG_046628 PGOHUM00000236093 HGNC:42468 +HGNC:42469 CYP4F61P cytochrome P450 family 4 subfamily F member 61, pseudogene pseudogene pseudogene Approved 9q13 09q13 CYP4F-se16[6:7:8] cytochrome P450, family 4, subfamily F, polypeptide 61, pseudogene Cytochrome P450 family 4 1003 2011-07-29 2015-12-09 2015-12-09 107457588 NG_046836 PGOHUM00000236157 HGNC:42469 +HGNC:39956 CYP4F62P cytochrome P450 family 4 subfamily F member 62, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 CYP4F-se11[6:7:8] CYP4F43P "cytochrome P450, family 4, subfamily F, polypeptide 43, pseudogene|cytochrome P450, family 4, subfamily F, polypeptide 62, pseudogene" Cytochrome P450 family 4 1003 2011-07-29 2013-11-15 2015-12-09 2015-12-09 646802 ENSG00000239402 OTTHUMG00000153934 NR_103761 PGOHUM00000240301 HGNC:39956 +HGNC:23198 CYP4V2 cytochrome P450 family 4 subfamily V member 2 protein-coding gene gene with protein product Approved 4q35.1-q35.2 04q35.1-q35.2 CYP4AH1 cytochrome P450, family 4, subfamily V, polypeptide 2 Cytochrome P450 family 4 1003 2004-07-05 2015-12-09 2021-05-26 285440 ENSG00000145476 OTTHUMG00000160379 uc003iyw.5 AK022114 NM_207352 CCDS34119 Q6ZWL3 15042513 MGI:2142763 RGD:708530 608614 121002 objectId:1350 HGNC:23198 "ENST00000378802.5|NM_207352.4" HGNC:23198 +HGNC:20244 CYP4X1 cytochrome P450 family 4 subfamily X member 1 protein-coding gene gene with protein product Approved 1p33 01p33 MGC40051 cytochrome P450, family 4, subfamily X, polypeptide 1 Cytochrome P450 family 4 1003 2004-05-07 2015-12-09 2015-12-09 260293 ENSG00000186377 OTTHUMG00000008017 uc001cqt.3 AK091806 NM_178033 CCDS544 Q8N118 12176035 MGI:1932403 RGD:628719 614999 objectId:1351 HGNC:20244 "ENST00000371901.4|NM_178033.2" +HGNC:20583 CYP4Z1 cytochrome P450 family 4 subfamily Z member 1 protein-coding gene gene with protein product Approved 1p33 01p33 CYP4A20 cytochrome P450, family 4, subfamily Z, polypeptide 1 Cytochrome P450 family 4 1003 2004-05-10 2015-12-09 2015-12-09 199974 ENSG00000186160 OTTHUMG00000008019 uc001cqu.2 AY262056 NM_178134 CCDS545 Q86W10 15059886 MGI:1932403 618953 objectId:1352 HGNC:20583 "ENST00000334194.4|NM_178134.3" +HGNC:24426 CYP4Z2P cytochrome P450 family 4 subfamily Z member 2, pseudogene pseudogene pseudogene Approved 1p33 01p33 FLJ40054 cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene Cytochrome P450 family 4 1003 2008-04-16 2015-12-09 2015-12-09 163720 ENSG00000154198 OTTHUMG00000008024 AY262057 NR_002788 Q8N1L4 15059886 618954 PGOHUM00000244006 HGNC:24426 +HGNC:2651 CYP7A1 cytochrome P450 family 7 subfamily A member 1 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "cholesterol 7 alpha-monooxygenase|cholesterol 7α-hydroxylase" CYP7 "cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1|cytochrome P450, family 7, subfamily A, polypeptide 1" Cytochrome P450 family 7 1005 1992-04-16 2015-12-09 2021-05-26 1581 ENSG00000167910 OTTHUMG00000164301 uc003xtm.5 M89803 NM_000780 CCDS6171 P22680 1358792 MGI:106091 RGD:2482 118455 212882 objectId:1354 1.14.14.23 HGNC:2651 "ENST00000301645.4|NM_000780.4" HGNC:2651 +HGNC:2652 CYP7B1 cytochrome P450 family 7 subfamily B member 1 protein-coding gene gene with protein product Approved 8q12.3 08q12.3 SPG5A "cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1|spastic paraplegia 5A (autosomal recessive)|cytochrome P450, family 7, subfamily B, polypeptide 1" Cytochrome P450 family 7 1005 1999-06-02 2015-12-09 2021-05-26 9420 ENSG00000172817 OTTHUMG00000164387 uc003xvj.3 AF029403 NM_001324112 CCDS6180 O75881 "9802883|18252231" MGI:104978 RGD:2483 603711 121005 objectId:1355 1.14.14.29 HGNC:2652 "ENST00000310193.4|NM_004820.5" HGNC:2652 +HGNC:2653 CYP8B1 cytochrome P450 family 8 subfamily B member 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 CYP12 "cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1|cytochrome P450, family 8, subfamily B, polypeptide 1" Cytochrome P450 family 8 1006 1998-06-25 2015-12-09 2015-12-09 1582 ENSG00000180432 OTTHUMG00000133047 uc003cmh.4 AF090318 NM_004391 CCDS2707 Q9UNU6 10051404 MGI:1338044 RGD:71016 602172 objectId:1357 HGNC:2653 "ENST00000316161.6|NM_004391.3" +HGNC:2590 CYP11A1 cytochrome P450 family 11 subfamily A member 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 P450SCC cholesterol monooxygenase (side-chain-cleaving) CYP11A "cytochrome P450, subfamily XIA (cholesterol side chain cleavage)|cytochrome P450, family 11, subfamily A, polypeptide 1" Cytochrome P450 family 11 1007 1986-01-01 2003-01-17 2015-12-09 2021-05-26 1583 ENSG00000140459 OTTHUMG00000150716 uc002axt.3 AK056794 NM_000781 "CCDS45303|CCDS32291" P05108 MGI:88582 RGD:69325 118485 120945 objectId:1358 1.14.15.6 HGNC:2590 "ENST00000268053.11|NM_000781.3" HGNC:2590 +HGNC:2591 CYP11B1 cytochrome P450 family 11 subfamily B member 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "P450C11|FHI|CPN1" steroid 11-beta-monooxygenase CYP11B "cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1|cytochrome P450, family 11, subfamily B, polypeptide 1" Cytochrome P450 family 11 1007 1986-01-01 2015-12-09 2021-05-26 1584 ENSG00000160882 OTTHUMG00000164637 uc003yxi.4 D16153 NM_000497 "CCDS34953|CCDS6392" P15538 1303253 "MGI:88583|MGI:88584" RGD:2454 610613 120949 objectId:1359 1.14.15.4 HGNC:2591 "ENST00000292427.10|NM_000497.4" HGNC:2591 +HGNC:2592 CYP11B2 cytochrome P450 family 11 subfamily B member 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "CYP11BL|CPN2|P-450C18|P450aldo|ALDOS" steroid 11-beta-monooxygenase CYP11B "cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2|cytochrome P450, family 11, subfamily B, polypeptide 2" Cytochrome P450 family 11 1007 1986-01-01 2015-12-09 2021-05-26 1585 ENSG00000179142 OTTHUMG00000160254 uc003yxk.1 X54741 NM_000498 CCDS6393 P19099 1303253 "MGI:88583|MGI:88584" RGD:727886 124080 120955 objectId:1360 1.14.15.4 HGNC:2592 "ENST00000323110.2|NM_000498.3" HGNC:2592 +HGNC:2593 CYP17A1 cytochrome P450 family 17 subfamily A member 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "P450C17|CPT7|S17AH" Steroid 17-alpha-monooxygenase CYP17 "cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia|cytochrome P450, family 17, subfamily A, polypeptide 1" Cytochrome P450 family 17 1008 1986-01-01 2003-02-28 2015-12-09 2021-05-26 1586 ENSG00000148795 OTTHUMG00000018969 uc001kwg.3 M19489 NM_000102 CCDS7541 P05093 "1347802|9888582" MGI:88586 RGD:2456 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP17A1 609300 120963 objectId:1361 "1.14.14.19|1.14.14.32" HGNC:2593 "ENST00000369887.4|NM_000102.4" HGNC:2593 +HGNC:31671 CYP17A1-AS1 CYP17A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.32 10q24.32 bA753C18.3 CYP17A1OS "cytochrome P450, family 17, subfamily A, polypeptide 1 opposite strand|CYP17A1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-09-02 2012-08-15 2020-04-20 102724307 OTTHUMG00000018970 uc057vrq.1 XR_428804 CYP17A1-AS1 HGNC:31671 +HGNC:2594 CYP19A1 cytochrome P450 family 19 subfamily A member 1 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "ARO|P-450AROM|CPV1|ARO1|CYAR|aromatase" CYP19 "cytochrome P450, subfamily XIX (aromatization of androgens)|cytochrome P450, family 19, subfamily A, polypeptide 1" "Cytochrome P450 family 19|MicroRNA protein coding host genes" "1009|1691" 1986-01-01 2003-02-28 2015-12-09 2021-05-26 1588 ENSG00000137869 OTTHUMG00000131747 uc001zza.5 D14473 NM_000103 CCDS10139 P11511 8477708 MGI:88587 RGD:2457 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP19A1 107910 120969 objectId:1362 HGNC:2594 "ENST00000396402.6|NM_000103.4" HGNC:2594 +HGNC:20576 CYP20A1 cytochrome P450 family 20 subfamily A member 1 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 CYP-M cytochrome P450, family 20, subfamily A, polypeptide 1 Cytochrome P450 family 20 1010 2003-03-20 2015-12-09 2016-10-05 57404 ENSG00000119004 OTTHUMG00000132854 uc002uzv.5 AK021770 NM_020674 CCDS2357 Q6UW02 MGI:1925201 RGD:735221 objectId:1363 HGNC:20576 "ENST00000356079.9|NM_177538.3" +HGNC:2599 CYP21A1P cytochrome P450 family 21 subfamily A member 1, pseudogene pseudogene pseudogene Approved 6p21.33 06p21.33 P450c21A "CYP21P|CYP21A" "cytochrome P450, subfamily XXIA (steroid 21-hydroxylase), polypeptide 1 pseudogene|cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene" Cytochrome P450 family 21 1011 1986-01-01 2015-12-09 2015-12-09 1590 ENSG00000204338 OTTHUMG00000031026 M13935 NR_040090 "3487786|3038528" MGI:88591 RGD:2461 PGOHUM00000250207 HGNC:2599 +HGNC:2600 CYP21A2 cytochrome P450 family 21 subfamily A member 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "P450c21B|CA21H|CPS1|CAH1" Steroid 21-monooxygenase "CYP21|CYP21B" "cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2|cytochrome P450, family 21, subfamily A, polypeptide 2" Cytochrome P450 family 21 1011 1986-01-01 2015-12-09 2021-05-26 1589 ENSG00000231852 OTTHUMG00000031069 uc021zxa.2 X58906 NM_000500 "CCDS4735|CCDS47406" P08686 MGI:88591 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP21A2|LRG_829|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_829.xml" 613815 120981 objectId:1364 1.14.14.16 HGNC:2600 "ENST00000644719.2|NM_000500.9" HGNC:2600 +HGNC:2602 CYP24A1 cytochrome P450 family 24 subfamily A member 1 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "CP24|P450-CC24" CYP24 "cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)|cytochrome P450, family 24, subfamily A, polypeptide 1" Cytochrome P450 family 24 1012 1992-09-09 2003-02-28 2015-12-09 2021-05-26 1591 ENSG00000019186 OTTHUMG00000032773 uc002xwv.3 U60669 NM_000782 "CCDS33491|CCDS46616" Q07973 MGI:88593 RGD:2462 126065 279838 objectId:1365 1.14.15.16 HGNC:2602 "ENST00000216862.8|NM_000782.5" HGNC:2602 +HGNC:2603 CYP26A1 cytochrome P450 family 26 subfamily A member 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "P450RAI|CP26|CYP26|P450RAI1" "cytochrome P450, subfamily XXVIA, polypeptide 1|cytochrome P450, family 26, subfamily A, polypeptide 1" Cytochrome P450 family 26 1013 1996-12-12 2015-12-09 2019-10-07 1592 ENSG00000095596 OTTHUMG00000018765 uc001kil.3 AF005418 NM_000783 "CCDS7427|CCDS7426" O43174 "9228017|9521883" MGI:1096359 RGD:620161 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/CYP26A1 602239 470160 objectId:1366 HGNC:2603 "ENST00000224356.5|NM_000783.4" +HGNC:20581 CYP26B1 cytochrome P450 family 26 subfamily B member 1 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 P450RAI-2 "cytochrome P450, family 26, subfamily B, polypeptide 1|cytochrome P450 family 26 subfamily A member 1" Cytochrome P450 family 26 1013 2004-01-26 2015-12-09 2021-05-26 56603 ENSG00000003137 OTTHUMG00000129756 uc002sih.3 NM_019885 "CCDS62934|CCDS1919" Q9NR63 10545224 MGI:2176159 RGD:631379 605207 299166 objectId:1367 HGNC:20581 "ENST00000001146.7|NM_019885.4" HGNC:20581 +HGNC:20577 CYP26C1 cytochrome P450 family 26 subfamily C member 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 cytochrome P450, family 26, subfamily C, polypeptide 1 Cytochrome P450 family 26 1013 2003-11-18 2015-12-09 2021-05-26 340665 ENSG00000187553 OTTHUMG00000018766 uc010qns.2 NM_183374 CCDS7425 Q6V0L0 MGI:2679699 RGD:1308843 LRG_1290|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1290.xml 608428 320192 objectId:1368 HGNC:20577 "ENST00000651965.1|NM_183374.3" HGNC:20577 +HGNC:55836 CYP26C1-DT CYP26C1 divergent transcript non-coding RNA RNA, long non-coding Approved 10q23.33 10q23.33 Divergent transcripts 1990 2021-08-02 2021-08-02 122455335 ENSG00000226425 +HGNC:2605 CYP27A1 cytochrome P450 family 27 subfamily A member 1 protein-coding gene gene with protein product Approved 2q35 02q35 "CTX|CP27" cerebrotendinous xanthomatosis CYP27 "cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1|cytochrome P450, family 27, subfamily A, polypeptide 1" Cytochrome P450 family 27 1014 1991-08-22 2015-12-09 2021-05-26 1593 ENSG00000135929 OTTHUMG00000048238 uc002viz.5 BC017044 NM_000784 CCDS2423 Q02318 2019602 MGI:88594 RGD:727915 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CYP27A1 606530 120989 objectId:1369 HGNC:2605 "ENST00000258415.9|NM_000784.4" HGNC:2605 +HGNC:2606 CYP27B1 cytochrome P450 family 27 subfamily B member 1 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "CYP1|P450c1" "VDDR I|1alpha(OH)ase|25-Hydroxyvitamin D3 1alpha-hydroxylase|Calcidiol 1-monooxygenase" "VDD1|PDDR" "cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1|cytochrome P450, family 27, subfamily B, polypeptide 1" Cytochrome P450 family 27 1014 1998-03-24 2015-12-09 2021-05-26 1594 ENSG00000111012 OTTHUMG00000170457 uc001spz.2 AB006987 NM_000785 CCDS8954 O15528 "9295274|9344864" MGI:1098274 RGD:69192 609506 120994 objectId:1370 HGNC:2606 "ENST00000228606.9|NM_000785.4" HGNC:2606 +HGNC:33480 CYP27C1 cytochrome P450 family 27 subfamily C member 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 FLJ16008 cytochrome P450, family 27, subfamily C, polypeptide 1 Cytochrome P450 family 27 1014 2007-05-15 2015-12-09 2015-12-09 339761 ENSG00000186684 OTTHUMG00000153400 uc021vnn.2 AC027142 NM_001001665 CCDS33285 Q4G0S4 objectId:1371 HGNC:33480 "ENST00000664447.2|NM_001367502.1" +HGNC:17449 CYP39A1 cytochrome P450 family 39 subfamily A member 1 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1|cytochrome P450, family 39, subfamily A, polypeptide 1" Cytochrome P450 family 39 1015 2002-05-29 2015-12-09 2015-12-09 51302 ENSG00000146233 OTTHUMG00000014785 uc003oyf.3 AF237982 NM_001278738 "CCDS4916|CCDS75465" Q9NYL5 10748047 MGI:1927096 RGD:1307471 605994 objectId:1372 HGNC:17449 "ENST00000275016.3|NM_016593.5" +HGNC:2641 CYP46A1 cytochrome P450 family 46 subfamily A member 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 CYP46 "cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)|cytochrome P450, family 46, subfamily A, polypeptide 1" Cytochrome P450 family 46 1016 1999-08-20 2003-02-28 2015-12-09 2015-12-09 10858 ENSG00000036530 OTTHUMG00000171510 uc001ygo.4 AF094480 NM_006668 CCDS9954 Q9Y6A2 10377398 MGI:1341877 RGD:1306605 604087 objectId:1373 HGNC:2641 "ENST00000261835.8|NM_006668.2" +HGNC:42349 CYP46A4P cytochrome P450 family 46 subfamily A member 4, pseudogene pseudogene pseudogene Approved 1p33 01p33 CYP46A-se1[12:13:14] cytochrome P450, family 46, subfamily A, polypeptide 4, pseudogene Cytochrome P450 family 46 1016 2011-07-29 2015-12-09 2015-12-09 100874494 ENSG00000237180 OTTHUMG00000007962 NG_032510 PGOHUM00000261896 HGNC:42349 +HGNC:2649 CYP51A1 cytochrome P450 family 51 subfamily A member 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "CP51|CYPL1|P450L1|LDM|P450-14DM" CYP51 "cytochrome P450, 51 (lanosterol 14-alpha-demethylase)|cytochrome P450, family 51, subfamily A, polypeptide 1" Cytochrome P450 family 51 1017 1996-10-26 2003-02-28 2015-12-09 2021-05-26 1595 ENSG00000001630 OTTHUMG00000131131 uc003ulm.5 U51685 NM_000786 "CCDS5623|CCDS55123" Q16850 8975714 MGI:106040 RGD:2481 601637 objectId:1374 1.14.13.70 HGNC:2649 "ENST00000003100.13|NM_000786.4" +HGNC:50694 CYP51A1-AS1 CYP51A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.2 07q21.2 "ENST00000453068|LRRD1-AS1" CYP51A1 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-06-04 2014-11-19 2014-11-19 613126 ENSG00000188693 OTTHUMG00000156056 BC042829 NR_122109 24905231 CYP51A1-AS1 HGNC:50694 +HGNC:20245 CYP51A1P1 cytochrome P450 family 51 subfamily A member 1 pseudogene 1 pseudogene pseudogene Approved 3p12.2 03p12.2 CYP51P1 "cytochrome P450, family 51, pseudogene 1|cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 1" Cytochrome P450 family 51 1017 2008-12-09 2013-11-15 2015-12-09 2015-12-09 83528 ENSG00000241095 OTTHUMG00000158947 U36926 NG_001294 8809088 PGOHUM00000237670 HGNC:20245 +HGNC:20251 CYP51A1P2 cytochrome P450 family 51 subfamily A member 1 pseudogene 2 pseudogene pseudogene Approved 13q12.3 13q12.3 CYP51P2 "cytochrome P450, family 51, pseudogene 2|cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 2" Cytochrome P450 family 51 1017 2008-12-09 2013-11-15 2015-12-09 2015-12-09 83530 ENSG00000233588 OTTHUMG00000016651 U40053 NG_002766 8809088 PGOHUM00000248345 HGNC:20251 +HGNC:41991 CYP51A1P3 cytochrome P450 family 51 subfamily A member 1 pseudogene 3 pseudogene pseudogene Approved 6q24.3 06q24.3 CYP51P3 "cytochrome P450, family 51, pseudogene 3|cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 3" Cytochrome P450 family 51 1017 2011-07-29 2013-11-15 2015-12-09 2015-12-09 100422264 ENSG00000215223 OTTHUMG00000015774 NG_051927 PGOHUM00000243811 HGNC:41991 +HGNC:22432 CYREN cell cycle regulator of NHEJ protein-coding gene gene with protein product Approved 7q33 07q33 "MGC5242|FLJ27285|FLJ22450|MRI|MRI-2" modulator of retrovirus infection C7orf49 chromosome 7 open reading frame 49 2006-09-08 2018-02-22 2018-02-22 2018-02-22 78996 ENSG00000122783 OTTHUMG00000155447 uc003vsl.4 BC000168 NM_024033 "CCDS59082|CCDS5838|CCDS75663" Q9BWK5 "28959974|17043244|27063109|24610814" MGI:1925662 RGD:1563238 616980 HGNC:22432 "ENST00000393114.8|NM_024033.4" +HGNC:25373 CYRIA CYFIP related Rac1 interactor A protein-coding gene gene with protein product Approved 2p24.2 02p24.2 "DKFZP566A1524|FLJ11080|CYRI-A" FAM49A "family with sequence similarity 49, member A|family with sequence similarity 49 member A" 2004-08-20 2019-11-22 2019-11-22 2019-11-22 81553 ENSG00000197872 OTTHUMG00000090615 uc002rck.3 AK001942 NM_030797 CCDS1688 Q9H0Q0 31413787 MGI:1261783 RGD:1305961 HGNC:25373 "ENST00000381323.7|NM_030797.4" +HGNC:25216 CYRIB CYFIP related Rac1 interactor B protein-coding gene gene with protein product Approved 8q24.21 08q24.21 "BM-009|CYRI-B|CYRI" FAM49B "family with sequence similarity 49, member B|family with sequence similarity 49 member B" MicroRNA protein coding host genes 1691 2004-08-20 2019-11-22 2019-11-22 2019-11-22 51571 ENSG00000153310 OTTHUMG00000164805 uc003ysx.5 AF208851 NM_016623 "CCDS83327|CCDS6361" Q9NUQ9 "29059164|31285585" MGI:1923520 RGD:1307697 617978 HGNC:25216 +HGNC:18525 CYS1 cystin 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 2002-04-26 2014-11-19 192668 ENSG00000205795 OTTHUMG00000151703 uc002rag.3 "AF544983|AA446394" NM_001037160 CCDS33145 Q717R9 "12733055|11854326" MGI:2177632 RGD:1596023 618713 HGNC:18525 "ENST00000381813.5|NM_001037160.3" +HGNC:17451 CYSLTR1 cysteinyl leukotriene receptor 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "CysLT1|CysLT(1)|CYSLT1R" Leukotriene receptors 204 2002-08-29 2020-04-02 10800 ENSG00000173198 OTTHUMG00000021889 uc010nmb.5 AF119711 NM_001282186 CCDS14439 Q9Y271 "10391245|10462554" MGI:1926218 RGD:619796 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CYSLTR1 300201 objectId:269 HGNC:17451 "ENST00000373304.4|NM_006639.4" +HGNC:18274 CYSLTR2 cysteinyl leukotriene receptor 2 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "CysLT(2)|CYSLT2R" Leukotriene receptors 204 2002-08-29 2014-11-19 57105 ENSG00000152207 OTTHUMG00000016906 uc010ada.2 AB038269 NM_001308465 CCDS9412 Q9NS75 "10913337|1085123" MGI:1917336 RGD:619797 605666 476812 objectId:270 HGNC:18274 "ENST00000682523.1|NM_001308476.3" +HGNC:30529 CYSRT1 cysteine rich tail 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC59937 Similar to RIKEN cDNA 2310002J15 gene C9orf169 chromosome 9 open reading frame 169 2008-07-03 2014-05-30 2016-01-28 2016-04-25 375791 ENSG00000197191 OTTHUMG00000153383 NM_199001 CCDS48064 A8MQ03 12477932 MGI:1915109 RGD:1560880 HGNC:30529 "ENST00000650725.2|NM_199001.5" +HGNC:30239 CYSTM1 cysteine rich transmembrane module containing 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 ORF1-FL49 C5orf32 chromosome 5 open reading frame 32 2006-08-24 2012-02-23 2016-01-28 2016-01-28 84418 ENSG00000120306 OTTHUMG00000129243 uc003lfd.4 AJ245877 NM_032412 CCDS4221 Q9H1C7 19933165 MGI:1913310 RGD:2323233 HGNC:30239 "ENST00000261811.6|NM_032412.4" +HGNC:9501 CYTH1 cytohesin 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "B2-1|D17S811E|cytohesin-1" PSCD1 pleckstrin homology, Sec7 and coiled-coil domains 1 "Pleckstrin homology domain containing|Cytohesins" "682|1946" 1998-11-19 2008-08-14 2008-08-14 2016-10-05 9267 ENSG00000108669 OTTHUMG00000150253 uc002jvw.4 M85169 NM_004762 "CCDS42392|CCDS32754|CCDS86644" Q15438 "1511013|8449036|21628335|20018626" MGI:1334257 RGD:620397 182115 HGNC:9501 "ENST00000446868.8|NM_004762.6" +HGNC:54900 CYTH1P1 CYTH1 pseudogene 1 pseudogene pseudogene Approved Xp22.11 Xp22.11 2020-04-17 2020-04-17 100418871 ENSG00000271286 NG_026803 +HGNC:9502 CYTH2 cytohesin 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "CTS18.1|Sec7p-L|ARNO|Sec7p-like|cytohesin-2" "PSCD2L|PSCD2" "pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)|pleckstrin homology, Sec7 and coiled-coil domains 2" "Pleckstrin homology domain containing|Cytohesins" "682|1946" 1998-11-19 2008-08-14 2008-08-14 2016-10-05 9266 ENSG00000105443 OTTHUMG00000150245 uc002pjj.5 X99753 NM_004228 "CCDS12722|CCDS86786" Q99418 "8706128|8945478|20525696" MGI:1334255 RGD:620398 602488 HGNC:9502 "ENST00000452733.7|NM_004228.7" +HGNC:9504 CYTH3 cytohesin 3 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "GRP1|ARNO3|cytohesin-3" PSCD3 pleckstrin homology, Sec7 and coiled-coil domains 3 "Pleckstrin homology domain containing|Cytohesins" "682|1946" 1998-11-19 2008-08-14 2008-08-14 2015-09-11 9265 ENSG00000008256 OTTHUMG00000023440 uc003spt.4 AJ223957 NM_004227 CCDS5346 O43739 9072969 MGI:1335107 RGD:620399 605081 HGNC:9504 "ENST00000350796.8|NM_004227.4" +HGNC:9505 CYTH4 cytohesin 4 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "CYT4|cytohesin-4" PSCD4 "pleckstrin homology, Sec7 and coiled/coil domains 4|pleckstrin homology, Sec7 and coiled-coil domains 4" "Pleckstrin homology domain containing|Cytohesins" "682|1946" 2000-01-11 2008-08-14 2008-08-14 2016-10-05 27128 ENSG00000100055 OTTHUMG00000150562 uc003arf.4 AF075458 NM_001318024 CCDS13946 Q9UIA0 10591208 MGI:2441702 RGD:1564842 606514 HGNC:9505 "ENST00000248901.11|NM_013385.5" +HGNC:9506 CYTIP cytohesin 1 interacting protein protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "B3-1|HE|CYBR|CASP|CYTHIP" "cytohesin binding protein HE|cytohesin binder and regulator" PSCDBP pleckstrin homology, Sec7 and coiled-coil domains, binding protein PDZ domain containing 1220 1999-07-19 2008-08-19 2008-08-14 2016-10-05 9595 ENSG00000115165 OTTHUMG00000154551 uc002tzj.2 L06633 NM_004288 CCDS2204 O60759 "18926288|10343115|11867758|20530790|21562043" MGI:2183535 RGD:1307990 604448 HGNC:9506 "ENST00000264192.8|NM_004288.5" +HGNC:24435 CYTL1 cytokine like 1 protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "C17|C4orf4" cytokine-like 1 2005-02-01 2015-11-09 2019-06-10 54360 ENSG00000170891 OTTHUMG00000125479 uc003gig.5 AF193766 NM_018659 CCDS3379 Q9NRR1 "10857752|31089746" MGI:2684993 RGD:1561846 607930 HGNC:24435 "ENST00000307746.9|NM_018659.3" +HGNC:28717 CYTOR cytoskeleton regulator RNA non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 MGC4677 "C2orf59|NCRNA00152|LINC00152" "chromosome 2 open reading frame 59|non-protein coding RNA 152|long intergenic non-protein coding RNA 152" Long non-coding RNAs with non-systematic symbols 1992 2007-06-14 2016-09-19 2016-09-19 2017-07-14 112597 ENSG00000222041 OTTHUMG00000130273 uc061loh.1 BC009508 NR_024204 "27617288|24523021|24036268|26237576" HGNC:28717 +HGNC:16274 CYYR1 cysteine and tyrosine rich 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 C21orf95 cysteine/tyrosine-rich 1 2001-07-23 2016-04-21 2016-10-05 116159 ENSG00000166265 OTTHUMG00000078689 uc002ymd.4 AY061853 NM_052954 Q96J86 "12036297|12062809|24981926" MGI:2152187 RGD:1359578 616020 HGNC:16274 "ENST00000652641.2|NM_001320768.2" +HGNC:39560 CYYR1-AS1 CYYR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 "cysteine/tyrosine-rich 1 antisense RNA 1|cysteine and tyrosine rich 1 antisense RNA 1" Antisense RNAs 1987 2014-07-01 2019-12-13 2019-12-13 100996571 ENSG00000197934 OTTHUMG00000078660 AK125338 NR_135515 24981926 616021 CYYR1-AS1 HGNC:39560 +HGNC:26059 CZIB CXXC motif containing zinc binding protein protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ20580 C1orf123 chromosome 1 open reading frame 123 2005-06-21 2018-10-29 2018-10-29 2018-10-29 54987 ENSG00000162384 OTTHUMG00000008940 uc001cvd.4 BC010908 NM_017887 CCDS576 Q9NWV4 "21798097|26919524|30260988|30280012" MGI:1921348 RGD:1559786 HGNC:26059 "ENST00000294360.5|NM_017887.3" +HGNC:55408 CZIB-DT CZIB divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Divergent transcripts 1990 2021-01-06 2021-01-06 120017342 ENSG00000259818 +HGNC:28358 D2HGDH D-2-hydroxyglutarate dehydrogenase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "MGC25181|D2HGD|FLJ42195" 2006-03-09 2021-05-26 728294 ENSG00000180902 OTTHUMG00000151474 uc002wce.3 AK091725 NM_152783 "CCDS74684|CCDS33426" Q8N465 "15070399|15609246" MGI:2138209 RGD:1307976 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/D2HGDH 609186 121007 1.1.99.- HGNC:28358 "ENST00000321264.9|NM_152783.5" HGNC:28358 +HGNC:18142 DAAM1 dishevelled associated activator of morphogenesis 1 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 KIAA0666 "Armadillo like helical domain containing|Formins" "1492|2006" 2002-02-06 2016-10-05 23002 ENSG00000100592 OTTHUMG00000140326 uc001xea.3 AB014566 NM_014992 "CCDS58323|CCDS9737" Q9Y4D1 "11779461|18162551" MGI:1914596 RGD:1305119 606626 HGNC:18142 "ENST00000360909.8|NM_001270520.2" +HGNC:18143 DAAM2 dishevelled associated activator of morphogenesis 2 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 KIAA0381 "Armadillo like helical domain containing|Formins" "1492|2006" 2002-02-06 2016-10-05 23500 ENSG00000146122 OTTHUMG00000014653 uc003oox.3 AB002379 NM_001201427 "CCDS54999|CCDS56426" Q86T65 "11779461|12632087" MGI:1923691 RGD:1306128 606627 HGNC:18143 "ENST00000274867.9|NM_001201427.2" HGNC:18143 +HGNC:40830 DAAM2-AS1 DAAM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 Antisense RNAs 1987 2019-07-25 2019-07-25 100505635 ENSG00000235033 OTTHUMG00000014652 NR_125831 HGNC:40830 +HGNC:2661 DAB1 DAB adaptor protein 1 protein-coding gene gene with protein product Approved 1p32.2 01p32.2 "disabled (Drosophila) homolog 1|disabled homolog 1 (Drosophila)|Dab reelin signal transducer 1|Dab, reelin signal transducer, homolog 1 (Drosophila)|DAB1, reelin adaptor protein" 1998-06-12 2019-01-31 2019-01-31 1600 ENSG00000173406 OTTHUMG00000008391 uc057gxe.1 BC067445 NM_021080 CCDS607 O75553 "9790777|26441085" MGI:108554 RGD:628770 603448 HGNC:2661 "ENST00000371236.7|NM_001365792.1" HGNC:2661 +HGNC:49443 DAB1-AS1 DAB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.2 01p32.2 Antisense RNAs 1987 2013-12-03 2013-12-03 101926890 ENSG00000226759 OTTHUMG00000008286 NR_104362 DAB1-AS1 HGNC:49443 +HGNC:2662 DAB2 DAB adaptor protein 2 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 DOC-2 "disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)|disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)|Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)|DAB2, clathrin adaptor protein" 1998-07-29 2019-01-31 2019-01-31 1601 ENSG00000153071 OTTHUMG00000162043 uc003jlx.4 U53446 NM_001343 "CCDS58946|CCDS34149" P98082 "8660969|9620555" MGI:109175 RGD:621007 601236 HGNC:2662 "ENST00000320816.11|NM_001343.4" +HGNC:17294 DAB2IP DAB2 interacting protein protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "AF9Q34|DIP1/2|KIAA1743|AIP1" "nGAP-like protein|DOC-2/DAB2 interactive protein|ASK-interacting protein|ASK1-interacting protein 1" C2 and RasGAP domain containing 830 2002-01-23 2016-10-05 153090 ENSG00000136848 OTTHUMG00000020595 uc004bln.5 AF367051 NM_032552 "CCDS6832|CCDS6833" Q5VWQ8 "11944990|11812785" MGI:1916851 RGD:621686 609205 HGNC:17294 +HGNC:2663 DACH1 dachshund family transcription factor 1 protein-coding gene gene with protein product Approved 13q21.33 13q21.33 DACH "dachshund homolog (Drosophila)|dachshund homolog 1 (Drosophila)" 1998-04-06 2004-04-02 2014-02-03 2015-08-24 1602 ENSG00000276644 OTTHUMG00000017063 uc058xki.1 AJ005670 NM_004392 CCDS41899 Q9UI36 "9933575|10395809|15057823" MGI:1277991 RGD:1592073 603803 HGNC:2663 "ENST00000613252.5|NM_080759.6" +HGNC:16814 DACH2 dachshund family transcription factor 2 protein-coding gene gene with protein product Approved Xq21.2 Xq21.2 dachshund homolog 2 (Drosophila) 2001-11-08 2014-02-03 2020-04-02 117154 ENSG00000126733 OTTHUMG00000021944 uc004eew.3 AF428101 NM_053281 "CCDS55457|CCDS14455|CCDS48140" Q96NX9 MGI:1890446 RGD:1561687 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DACH2 300608 HGNC:16814 "ENST00000373125.9|NM_053281.3" +HGNC:51902 DACOR1 DNMT1-associated colon cancer repressed lncRNA 1 non-coding RNA RNA, long non-coding Approved 15q22.33 15q22.33 TCONS_00023265 Long non-coding RNAs with non-systematic symbols 1992 2015-09-18 2015-09-18 100131796 26307088 +HGNC:17748 DACT1 dishevelled binding antagonist of beta catenin 1 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "DAPPER1|THYEX3|HDPR1|DAPPER|FRODO" "dapper homolog 1, antagonist of beta-catenin (xenopus)|dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)" dishevelled binding antagonist of beta catenin family 2033 2003-01-15 2016-05-03 2021-05-26 51339 ENSG00000165617 OTTHUMG00000140324 uc001xdw.4 AF251079 NM_016651 "CCDS9736|CCDS41961" Q9NYF0 11970895 MGI:1891740 RGD:1564008 607861 315395 HGNC:17748 "ENST00000395153.8|NM_001079520.2" HGNC:17748 +HGNC:21231 DACT2 dishevelled binding antagonist of beta catenin 2 protein-coding gene gene with protein product Approved 6q27 06q27 "bA503C24.7|DAPPER2" C6orf116 "chromosome 6 open reading frame 116|dapper homolog 2, antagonist of beta-catenin (xenopus)|dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)" dishevelled binding antagonist of beta catenin family 2033 2003-05-29 2003-09-17 2016-05-03 2016-05-03 168002 ENSG00000164488 OTTHUMG00000016046 uc003qwq.5 AF318336 NM_001286350 "CCDS69241|CCDS47519|CCDS75554" Q5SW24 MGI:1920347 RGD:1310742 608966 HGNC:21231 "ENST00000366795.4|NM_214462.5" +HGNC:30745 DACT3 dishevelled binding antagonist of beta catenin 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "MGC15476|DAPPER3" RRR1 "arginine rich region 1|dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)" dishevelled binding antagonist of beta catenin family 2033 2006-09-14 2006-09-25 2016-05-03 2016-05-03 147906 ENSG00000197380 OTTHUMG00000153070 uc010ekq.3 NM_145056 "CCDS12688|CCDS74402" Q96B18 16881060 MGI:3654828 RGD:1563892 611112 HGNC:30745 "ENST00000391916.7|NM_145056.3" +HGNC:44120 DACT3-AS1 DACT3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.32 19q13.32 DACT3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100506068 ENSG00000245598 OTTHUMG00000165987 uc021uwh.2 BC043434 NR_040041 DACT3-AS1 HGNC:44120 +HGNC:2664 DAD1 defender against cell death 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 OST2 "oligosaccharyltransferase 2 homolog (S. cerevisiae)|oligosaccharyltransferase subunit 2 (non-catalytic)|Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1" Oligosaccharyltransferase complex subunits 445 1994-11-14 2020-03-10 1603 ENSG00000129562 OTTHUMG00000028685 uc001wgl.3 AK223129 NM_001344 CCDS9571 P61803 MGI:101912 RGD:621028 600243 HGNC:2664 "ENST00000250498.9|NM_001344.4" +HGNC:18295 DAD1P1 defender against cell death 1 pseudogene 1 pseudogene pseudogene Approved 12p12.1 12p12.1 DAD-R DAD1L defender against cell death 1-like 2007-07-26 2010-10-15 2010-10-15 2010-10-15 56286 NR_024064 "10812081|11912161" 609860 PGOHUM00000239371 HGNC:18295 +HGNC:2666 DAG1 dystroglycan 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "A3a|156DAG|AGRNR|DAG" "alpha-dystroglycan|dystrophin-associated glycoprotein-1|beta-dystroglycan" dystroglycan 1 (dystrophin-associated glycoprotein 1) 1997-07-22 2015-11-19 2021-05-26 1605 ENSG00000173402 OTTHUMG00000156869 uc021wxz.1 L19711 NM_001165928 CCDS2799 Q14118 "7774920|1741056" MGI:101864 RGD:621890 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DAG1|LRG_854|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_854.xml" 128239 280347 S72.001 HGNC:2666 "ENST00000308775.7|NM_004393.6" HGNC:2666 +HGNC:1165 DAGLA diacylglycerol lipase alpha protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "KIAA0659|NSDDR|DAGLALPHA" neural stem cell-derived dendrite regulator C11orf11 "chromosome 11 open reading frame 11|diacylglycerol lipase, alpha" Lipases 464 1998-07-30 2007-02-28 2016-02-12 2020-09-17 747 ENSG00000134780 OTTHUMG00000168160 uc001nsa.4 AB014559 NM_006133 CCDS31578 Q9Y4D2 9734811 MGI:2677061 RGD:1359461 614015 objectId:1396 3.1.1.- HGNC:1165 "ENST00000257215.10|NM_006133.3" +HGNC:28923 DAGLB diacylglycerol lipase beta protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "KCCR13L|DAGLBETA" diacylglycerol lipase, beta Lipases 464 2007-02-28 2016-02-12 2016-02-12 221955 ENSG00000164535 OTTHUMG00000125513 uc003sqa.4 AF450090 NM_139179 "CCDS47536|CCDS5350" Q8NCG7 MGI:2442032 RGD:1310193 614016 objectId:1397 3.1.1.- HGNC:28923 "ENST00000297056.11|NM_139179.4" +HGNC:51429 DALIR DNMT1-associated long intergenic non-coding RNA non-coding RNA RNA, long non-coding Approved 2q12 02q12 DALI DNMT1-Associated Long Intergenic Long non-coding RNAs with non-systematic symbols 1992 2014-12-10 2015-01-09 104940698 "BE439524|DA337013|EB386236" 25415054 MGI:5579231 +HGNC:25536 DALRD3 DALR anticodon binding domain containing 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ10496 MicroRNA protein coding host genes 1691 2005-01-10 2019-02-19 55152 ENSG00000178149 OTTHUMG00000156748 uc003cvm.4 BC014099 NM_018114 "CCDS2783|CCDS33754|CCDS63632" Q5D0E6 23505378 MGI:1915039 RGD:1359206 618904 HGNC:25536 "ENST00000341949.9|NM_001009996.3" HGNC:25536 +HGNC:28964 DANCR differentiation antagonizing non-protein coding RNA non-coding RNA RNA, long non-coding Approved 4q12 04q12 "ANCR|AGU2|lncRNA-ANCR" "anti-differentiation ncRNA|adipogenesis up-regulated transcript 2|anti-differentiation noncoding RNA" "KIAA0114|SNHG13" "KIAA0114|small nucleolar RNA host gene 13 (non-protein coding)" "MicroRNA non-coding host genes|Small nucleolar RNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1839|1992" 2006-08-04 2012-02-09 2012-02-09 2015-01-23 57291 ENSG00000226950 OTTHUMG00000154670 uc062woz.1 BC015222 NR_024031 P0C864 "7788527|22302877|19531736" MGI:1917286 RGD:6489076 614625 DANCR HGNC:28964 +HGNC:26780 DAND5 DAN domain BMP antagonist family member 5 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "FLJ38607|CKTSF1B3|DANTE|GREM3|CER2|DTE|Coco" DAN domain family member 5, BMP antagonist DAN family 1246 2005-01-04 2016-04-27 2016-10-05 199699 ENSG00000179284 OTTHUMG00000180725 uc002mwc.2 AK095926 NM_152654 CCDS12291 Q8N907 15254711 MGI:1344365 RGD:1590249 609068 HGNC:26780 "ENST00000317060.4|NM_152654.3" +HGNC:50863 DANT1 DXZ4 associated non-coding transcript 1, proximal non-coding RNA RNA, long non-coding Approved Xq23 Xq23 Long non-coding RNAs with non-systematic symbols 1992 2015-07-29 2018-08-17 106029310 ENSG00000229335 OTTHUMG00000033102 CD173052 NR_147172 26188586 301001 DANT1 HGNC:50863 +HGNC:50862 DANT2 DXZ4 associated non-coding transcript 2, distal non-coding RNA RNA, long non-coding Approved Xq23 Xq23 Long non-coding RNAs with non-systematic symbols 1992 2015-07-29 2015-07-29 642776 ENSG00000235244 OTTHUMG00000022240 NR_132337 26188586 301004 DANT2 HGNC:50862 +HGNC:2671 DAO D-amino acid oxidase protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "DAMOX|DAAO" 1992-11-25 2016-07-04 2020-09-01 1610 ENSG00000110887 OTTHUMG00000169360 uc001tnr.5 D11370 NM_001917 CCDS9122 P14920 1356107 MGI:94859 RGD:621138 124050 231605 1.4.3.3 HGNC:2671 "ENST00000228476.8|NM_001917.5" HGNC:2671 +HGNC:21191 DAOA D-amino acid oxidase activator protein-coding gene gene with protein product Approved 13q33.2 13q33.2 G72 G72 transcript 2003-12-09 2014-11-19 267012 ENSG00000182346 OTTHUMG00000041333 uc001vqb.5 AY138547 NM_172370 "CCDS59242|CCDS53880|CCDS41905" P59103 "12364586|15057823" 607408 HGNC:21191 "ENST00000375936.9|NM_172370.5" +HGNC:30243 DAOA-AS1 DAOA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q33.2 13q33.2 G30 G30 transcript "DAOAAS|DAOA-AS" "DAOA antisense RNA (non-protein coding)|DAOA antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-08-05 2010-11-25 2012-08-15 2014-11-19 282706 ENSG00000232307 OTTHUMG00000041332 uc021rmh.3 AY138548 NR_040247 "12364586|12647258" 607415 DAOA-AS1 HGNC:30243 +HGNC:2672 DAP death associated protein protein-coding gene gene with protein product Approved 5p15.2 05p15.2 1995-04-27 2016-07-04 2018-06-08 1611 ENSG00000112977 OTTHUMG00000131041 uc003jez.5 X76105 NM_004394 "CCDS3880|CCDS77997" P51397 "8530096|7828849" MGI:1918190 RGD:620641 600954 HGNC:2672 "ENST00000230895.11|NM_004394.3" +HGNC:55214 DAP-DT DAP divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 Divergent transcripts 1990 2020-08-21 2020-08-21 105374652 ENSG00000272324 XR_002956210 +HGNC:2673 DAP3 death associated protein 3 protein-coding gene gene with protein product Approved 1q22 01q22 "MRPS29|DAP-3|MRP-S29|bMRP-10|MGC126058|MGC126059|DKFZp686G12159" mitochondrial 28S ribosomal protein S29 Mitochondrial ribosomal proteins 646 1999-05-14 2014-11-19 7818 ENSG00000132676 OTTHUMG00000035439 uc001flr.4 X83544 NM_004632 "CCDS55646|CCDS55647|CCDS1120" P51398 "7499268|9284927" MGI:1929538 RGD:1305339 602074 HGNC:2673 "ENST00000368336.10|NM_004632.4" +HGNC:17624 DAP3P1 death associated protein 3 pseudogene 1 pseudogene pseudogene Approved 1q22 01q22 MRPS29P1 mitochondrial ribosomal protein S29 pseudogene 1 DAP3P DAP3 pseudogene 2006-03-22 2010-09-24 2010-09-24 2020-04-20 359804 ENSG00000225082 OTTHUMG00000014013 NG_002904 16545939 PGOHUM00000245014 HGNC:17624 +HGNC:29762 DAP3P2 death associated protein 3 pseudogene 2 pseudogene pseudogene Approved 2q31.1 02q31.1 MRPS29P2 mitochondrial ribosomal protein S29 pseudogene 2 2010-09-29 2012-11-14 2012-11-14 2012-11-14 359774 ENSG00000228507 OTTHUMG00000154084 NG_002890 12706105 PGOHUM00000241015 HGNC:29762 +HGNC:2674 DAPK1 death associated protein kinase 1 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 DAPK death-associated protein kinase 1 "Ankyrin repeat domain containing|Death associated protein kinases|ROCO family" "403|1021|1421" 1995-04-27 2016-03-15 2021-05-27 1612 ENSG00000196730 OTTHUMG00000020150 uc033czy.2 X76104 NM_004938 CCDS43842 P53355 8530096 MGI:1916885 RGD:1311629 600831 objectId:2002 HGNC:2674 "ENST00000408954.8|NM_004938.4" HGNC:2674 +HGNC:43591 DAPK1-IT1 DAPK1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 9q21.33 09q21.33 DAPK1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-11-16 2015-02-25 2019-07-17 100506897 ENSG00000236709 OTTHUMG00000020148 uc064ucn.1 BQ025444 NR_146781 31300197 DAPK1-IT1 HGNC:43591 +HGNC:2675 DAPK2 death associated protein kinase 2 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "DRP-1|MGC119312" Death associated protein kinases 1021 1999-10-19 2016-05-31 2016-10-05 23604 ENSG00000035664 OTTHUMG00000132947 uc002amr.4 AB018001 NM_014326 "CCDS86463|CCDS10188" Q9UIK4 10376525 MGI:1341297 RGD:1304708 616567 objectId:2003 HGNC:2675 +HGNC:2676 DAPK3 death associated protein kinase 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ZIP|ZIPK" "Death associated protein kinases|MicroRNA protein coding host genes" "1021|1691" 1998-05-05 2016-05-31 2019-08-21 1613 ENSG00000167657 OTTHUMG00000181825 uc002lzd.2 AB007144 NM_001348 CCDS12116 O43293 9488481 MGI:1203520 RGD:621766 603289 470168 objectId:2004 HGNC:2676 "ENST00000545797.7|NM_001348.3" +HGNC:21490 DAPL1 death associated protein like 1 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 death associated protein-like 1 2003-06-18 2015-11-12 2016-10-05 92196 ENSG00000163331 OTTHUMG00000153970 uc002uaf.4 NM_001017920 CCDS33307 A0PJW8 MGI:1923997 RGD:1309610 HGNC:21490 "ENST00000309950.8|NM_001017920.3" +HGNC:16500 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 protein-coding gene gene with protein product Approved 4q23 04q23 BAM32 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 2001-09-07 2016-05-27 2016-05-27 27071 ENSG00000070190 OTTHUMG00000160974 uc003hvf.5 AF186022 NM_001306151 "CCDS47112|CCDS77945" Q9UN19 10432293 MGI:1347063 RGD:1310189 605768 HGNC:16500 "ENST00000512369.2|NM_014395.3" +HGNC:2678 DARS1 aspartyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 aspartate tRNA ligase 1, cytoplasmic DARS aspartyl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 1998-04-22 2019-07-15 2019-07-15 2021-05-26 1615 ENSG00000115866 OTTHUMG00000131741 uc002tux.2 J05032 NM_001349 CCDS2180 P14868 2674137 MGI:2442544 RGD:621167 603084 364846 6.1.1.12 HGNC:2678 "ENST00000264161.9|NM_001349.4" HGNC:2678 +HGNC:40170 DARS1-AS1 DARS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.3 02q21.3 DARS-AS1 DARS antisense RNA 1 Antisense RNAs 1987 2014-07-30 2020-08-05 2020-08-05 2020-08-05 101928243 ENSG00000231890 OTTHUMG00000153578 NR_110199 "28420760|31289203" DARS-AS1 HGNC:40170 +HGNC:25538 DARS2 aspartyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "FLJ10514|mtAspRS" aspartate tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class II 132 2005-06-28 2007-02-23 2021-05-26 55157 ENSG00000117593 OTTHUMG00000034803 uc001gjh.3 AK022754 NM_018122 CCDS1311 Q6PI48 15779907 MGI:2442510 RGD:1308286 LRG_1270|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1270.xml 610956 158065 6.1.1.12 HGNC:25538 "ENST00000649689.2|NM_018122.5" HGNC:25538 +HGNC:26383 DAW1 dynein assembly factor with WD repeats 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "FLJ25955|ODA16|DNAAF18" "outer row dynein assembly 16 homolog (Chlamydomonas)|dynein axonemal assembly factor 18" WDR69 WD repeat domain 69 "WD repeat domain containing|Axonemal dynein assembly factors" "362|1627" 2005-05-26 2013-02-19 2016-01-26 2021-11-26 164781 ENSG00000123977 OTTHUMG00000133190 uc002vpn.2 NM_178821 CCDS2470 Q8N136 "20568242|21953912" MGI:1923089 RGD:1561436 HGNC:26383 "ENST00000309931.3|NM_178821.3" +HGNC:2681 DAXX death domain associated protein protein-coding gene gene with protein product Approved 6p21.32 06p21.32 DAP6 death-associated protein 6 1998-03-25 2016-07-04 2016-10-05 1616 ENSG00000204209 OTTHUMG00000031203 uc011drd.3 AF006041 NM_001141969 "CCDS59008|CCDS4776" Q9UER7 "9407001|9215629" MGI:1197015 RGD:621227 DAXX 603186 470170 HGNC:2681 "ENST00000374542.10|NM_001141969.2" +HGNC:2682 DAZ1 deleted in azoospermia 1 protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 SPGY DAZ deleted in azoospermia "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 1996-04-12 2005-01-22 2005-01-21 2015-08-27 1617 ENSG00000188120 OTTHUMG00000044053 uc004fvl.4 NM_004081 CCDS48209 Q9NQZ3 7670487 MGI:1342328 400003 121012 HGNC:2682 "ENST00000405239.6|NM_004081.7" +HGNC:15964 DAZ2 deleted in azoospermia 2 protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 "pDP1678|MGC126442" "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 2001-06-25 2015-08-27 57055 ENSG00000205944 OTTHUMG00000044060 uc065cvg.1 AF248480 NM_020363 "CCDS48210|CCDS65375|CCDS35485" Q13117 10936047 MGI:1342328 400026 121016 HGNC:15964 "ENST00000382440.6|NM_001389303.1" +HGNC:15965 DAZ3 deleted in azoospermia 3 protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 2001-06-25 2015-08-27 57054 ENSG00000187191 OTTHUMG00000045099 uc004fwk.4 AF248481 NM_020364 CCDS35489 Q9NR90 10936047 MGI:1342328 400027 121018 HGNC:15965 "ENST00000382365.7|NM_020364.4" +HGNC:15966 DAZ4 deleted in azoospermia 4 protein-coding gene gene with protein product Approved Yq11.23 Yq11.23 "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 2001-06-25 2015-08-27 57135 ENSG00000205916 OTTHUMG00000045100 uc065cwa.1 AF248482 NM_001005375 CCDS55557 Q86SG3 "10936047|14639527" MGI:1342328 400048 121020 HGNC:15966 "ENST00000682740.1|NM_001388484.1" +HGNC:2683 DAZAP1 DAZ associated protein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC19907 deleted in azoospermia associated protein 1 RNA binding motif containing 725 1999-12-07 2014-11-19 26528 ENSG00000071626 OTTHUMG00000180058 uc002lsn.5 NM_170711 "CCDS12066|CCDS86685|CCDS86684|CCDS12065" Q96EP5 "10857750|23658607" MGI:1917498 RGD:1305280 607430 HGNC:2683 "ENST00000233078.9|NM_018959.4" +HGNC:2684 DAZAP2 DAZ associated protein 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KIAA0058 1999-12-07 2015-08-24 9802 ENSG00000183283 OTTHUMG00000169649 uc001ryb.4 D31767 NM_014764 "CCDS44884|CCDS44885|CCDS44886|CCDS44887|CCDS44888|CCDS8809" Q15038 "10857750|7584044" MGI:1344344 RGD:1307407 607431 HGNC:2684 "ENST00000412716.8|NM_014764.4" +HGNC:43869 DAZAP2P1 DAZ associated protein 2 pseudogene 1 pseudogene pseudogene Approved 2q33.1 02q33.1 2012-04-04 2012-04-04 645805 ENSG00000223825 OTTHUMG00000154581 NG_008858 PGOHUM00000240482 HGNC:43869 +HGNC:2685 DAZL deleted in azoospermia like protein-coding gene gene with protein product Approved 3p24.3 03p24.3 "DAZH|SPGYLA|MGC26406|DAZL1" DAZLA deleted in azoospermia-like "RNA binding motif containing|DAZ RNA binding protein family " "725|1579" 1997-04-25 2016-01-26 2016-10-05 1618 ENSG00000092345 OTTHUMG00000157050 uc062hfm.1 BC027595 NM_001351 "CCDS54556|CCDS43059" Q92904 8896558 MGI:1342328 RGD:1591714 601486 HGNC:2685 "ENST00000399444.7|NM_001351.4" HGNC:2685 +HGNC:43904 DBET D4Z4 binding element transcript non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 "DBE-T|DUX4L30" chromatin-associated long non-coding RNA D4Z4 binding element transcript (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-10-08 2018-05-16 2020-04-20 100419743 ENSG00000281591 OTTHUMG00000189731 JQ639078 NR_121644 22541069 614865 dbet DBET HGNC:43904 +HGNC:17364 DBF4 DBF4 zinc finger protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "ASK|chif|ZDBF1|DBF4A" "activator of S phase kinase|chiffon homolog (Drosophila)|zinc finger, DBF-type containing 1|DBF4 zinc finger A" DBF4 homolog (S. cerevisiae) Zinc fingers DBF-type 75 2005-11-15 2014-02-17 2016-10-05 10926 ENSG00000006634 OTTHUMG00000131034 uc003ujf.1 AF160876 NM_006716 CCDS5611 Q9UBU7 "10373557|10517317" MGI:1351328 RGD:1305854 604281 HGNC:17364 "ENST00000265728.6|NM_006716.4" +HGNC:17883 DBF4B DBF4 zinc finger B protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "FLJ13087|DRF1|ASKL1|chifb|ZDBF1B" "chiffon homolog B (Drosophila)|zinc finger, DBF-type containing 1B" DBF4 homolog B (S. cerevisiae) Zinc fingers DBF-type 75 2006-02-06 2014-02-17 2016-04-25 80174 ENSG00000161692 OTTHUMG00000165717 uc002ihf.4 AF465820 NM_025104 "CCDS45706|CCDS11485" Q8NFT6 15668232 RGD:7649594 611661 HGNC:17883 "ENST00000315005.8|NM_145663.3" +HGNC:45059 DBF4P1 DBF4 zinc finger pseudogene 1 pseudogene pseudogene Approved 10q21.3 10q21.3 DBF4 homolog pseudogene 1 2013-02-07 2014-02-17 2014-02-17 645084 ENSG00000235489 OTTHUMG00000018323 NG_006968 PGOHUM00000238503 HGNC:45059 +HGNC:45060 DBF4P2 DBF4 zinc finger pseudogene 2 pseudogene pseudogene Approved 2q13 02q13 DBF4 homolog pseudogene 2 2013-02-07 2014-02-17 2020-01-21 100420180 ENSG00000271635 NG_023599 PGOHUM00000240257 HGNC:45060 +HGNC:45061 DBF4P3 DBF4 zinc finger pseudogene 3 pseudogene pseudogene Approved 2p11.2 02p11.2 DBF4 homolog pseudogene 3 2013-02-07 2014-02-17 2020-01-22 112272612 ENSG00000271097 NG_066014 PGOHUM00000240715 HGNC:45061 +HGNC:2689 DBH dopamine beta-hydroxylase protein-coding gene gene with protein product Approved 9q34.2 09q34.2 DBM dopamine beta-monooxygenase dopamine beta-hydroxylase (dopamine beta-monooxygenase) 2001-06-22 2016-03-15 2021-05-26 1621 ENSG00000123454 OTTHUMG00000020878 uc004cel.4 X13256 NM_000787 CCDS6977 P09172 MGI:94864 RGD:2489 BIOMBD|http://www.biopku.org/home/biomdb.asp 609312 121022 objectId:2486 1.14.17.1 HGNC:2689 "ENST00000393056.8|NM_000787.4" HGNC:2689 +HGNC:24155 DBH-AS1 DBH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.2 09q34.2 BPR NCRNA00118 "non-protein coding RNA 118|DBH antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-09-12 2011-08-11 2012-08-15 2015-11-04 138948 ENSG00000225756 OTTHUMG00000020877 uc031tfk.3 AF129263 NR_002783 "10686491|26393879" DBH-AS1 HGNC:24155 +HGNC:2690 DBI diazepam binding inhibitor, acyl-CoA binding protein protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "ACBP|ACBD1" endozepine diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) 1988-06-09 2016-05-27 2016-10-05 1622 ENSG00000155368 OTTHUMG00000131403 uc002tlx.5 L76366 NM_020548 "CCDS54390|CCDS42740|CCDS2126|CCDS74568|CCDS54391|CCDS42741" P07108 1440058 MGI:94865 RGD:2490 125950 HGNC:2690 "ENST00000355857.8|NM_001079862.4" +HGNC:38519 DBIL5P diazepam binding inhibitor-like 5, pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 ELP2P endozepine-like peptide 2 pseudogene 2010-12-02 2020-08-13 100131454 ENSG00000231784 OTTHUMG00000132485 NR_024120 MGI:108039 HGNC:38519 +HGNC:38518 DBIL5P2 diazepam binding inhibitor-like 5 pseudogene 2 pseudogene pseudogene Approved 2p15 02p15 ELP1P endozepine-like peptide 1 pseudogene 2010-12-02 2010-12-02 100169989 ENSG00000242412 OTTHUMG00000152565 NG_008463 PGOHUM00000240066 HGNC:38518 +HGNC:2692 DBIP1 DBI pseudogene 1 pseudogene pseudogene Approved 6q14.1 06q14.1 DBIL2 "diazepam binding inhibitor-like 2 (pseudogene)|diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 1|diazepam binding inhibitor, acyl-CoA binding protein pseudogene 1" 1991-07-24 2010-05-28 2019-01-21 2019-01-21 1624 ENSG00000218748 OTTHUMG00000015077 NG_001112 7789980 PGOHUM00000243260 HGNC:2692 +HGNC:2691 DBIP2 DBI pseudogene 2 pseudogene pseudogene Approved 5q14.1 05q14.1 DBIL1 "diazepam binding inhibitor-like 1|diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 2|diazepam binding inhibitor, acyl-CoA binding protein pseudogene 2" 1991-07-24 2010-05-28 2019-01-21 2019-01-21 1623 ENSG00000251366 OTTHUMG00000162653 NG_003024 PGOHUM00000235295 HGNC:2691 +HGNC:38517 DBIP3 DBI pseudogene 3 pseudogene pseudogene Approved 16p13.3 16p13.3 "diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) pseudogene 3|diazepam binding inhibitor, acyl-CoA binding protein pseudogene 3" 2010-10-19 2019-01-21 2019-01-21 791082 NG_005846 PGOHUM00000248973 HGNC:38517 +HGNC:2695 DBN1 drebrin 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 D0S117E 1993-09-08 2015-08-24 1627 ENSG00000113758 OTTHUMG00000130856 uc003mgy.3 NM_080881 "CCDS4420|CCDS87354|CCDS4421" Q16643 8216329 MGI:1931838 RGD:70885 126660 HGNC:2695 "ENST00000393565.6|NM_001363541.2" +HGNC:28455 DBNDD1 dysbindin domain containing 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "MGC3101|FLJ12582" dysbindin (dystrobrevin binding protein 1) domain containing 1 2006-04-04 2016-06-10 2016-06-10 79007 ENSG00000003249 OTTHUMG00000138984 uc002fqf.3 AK090696 NM_024043 "CCDS42223|CCDS10991" Q9H9R9 12477932 MGI:1919435 RGD:1310008 HGNC:28455 "ENST00000002501.11|NM_001042610.3" +HGNC:15881 DBNDD2 dysbindin domain containing 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 HSMNP1 C20orf35 "chromosome 20 open reading frame 35|dysbindin (dystrobrevin binding protein 1) domain containing 2" 2001-06-21 2006-04-04 2016-04-05 2016-04-05 55861 ENSG00000244274 OTTHUMG00000032576 uc002xnz.4 AF220191 NM_018478 "CCDS56193|CCDS42880|CCDS42881" Q9BQY9 16618118 MGI:106562 RGD:1559521 611453 HGNC:15881 "ENST00000372710.5|NM_001048225.4" +HGNC:2696 DBNL drebrin like protein-coding gene gene with protein product Approved 7p13 07p13 "SH3P7|HIP-55|ABP1" "actin-binding protein 1|HPK1-interacting protein of 55 kDa" drebrin-like MicroRNA protein coding host genes 1691 1999-09-16 2016-02-03 2016-02-03 28988 ENSG00000136279 OTTHUMG00000155350 uc003tjq.5 AF151364 NM_014063 "CCDS64633|CCDS47579|CCDS34622|CCDS34623|CCDS64634" Q9UJU6 10087302 MGI:700006 RGD:70941 610106 HGNC:2696 "ENST00000448521.6|NM_001014436.3" +HGNC:2697 DBP D-box binding PAR bZIP transcription factor protein-coding gene gene with protein product Approved 19q13.33 19q13.33 DABP D site of albumin promoter (albumin D-box) binding protein PAR bZIP family 1248 1991-11-27 2016-04-27 2016-04-27 1628 ENSG00000105516 OTTHUMG00000183319 uc002pjx.5 U06936 NM_001352 CCDS12728 Q10586 "1535333|7835883" MGI:94866 RGD:2491 124097 HGNC:2697 "ENST00000222122.10|NM_001352.5" +HGNC:15594 DBR1 debranching RNA lariats 1 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "debranching enzyme (S. Cerevisiae) homolog 1|debranching enzyme homolog 1 (S. cerevisiae)" 2001-04-26 2013-05-01 2013-05-01 51163 ENSG00000138231 OTTHUMG00000159824 uc003erv.4 AF180919 NM_016216 CCDS33863 Q9UK59 10982890 MGI:1931520 RGD:1598038 607024 HGNC:15594 "ENST00000260803.9|NM_016216.4" HGNC:15594 +HGNC:2698 DBT dihydrolipoamide branched chain transacylase E2 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "BCOADC-E2|BCKAD-E2|BCKDH-E2" "dihydrolipoyllysine-residue (2-methylpropanoyl)transferase|lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial|branched chain 2-oxo-acid dehydrogenase complex component E2" dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) 1989-06-30 2004-11-15 2020-07-20 1629 ENSG00000137992 OTTHUMG00000010921 uc001dta.4 BC016675 NM_001918 CCDS767 P11182 "1420314|1429740" MGI:105386 RGD:68403 248610 121025 2.3.1.168 HGNC:2698 "ENST00000370132.8|NM_001918.5" HGNC:2698 +HGNC:33185 DBX1 developing brain homeobox 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 NKL subclass homeoboxes and pseudogenes 519 2007-03-14 2019-08-20 120237 ENSG00000109851 OTTHUMG00000166043 uc021qey.2 NM_001029865 CCDS31443 A6NMT0 11239429 MGI:94867 RGD:1308896 619830 8355 HGNC:33185 "ENST00000524983.3|NM_001029865.4" HGNC:33185 +HGNC:33186 DBX2 developing brain homeobox 2 protein-coding gene gene with protein product Approved 12q12 12q12 FLJ16139 NKL subclass homeoboxes and pseudogenes 519 2007-03-14 2014-11-19 440097 ENSG00000185610 OTTHUMG00000169559 uc001rok.2 NM_001004329 CCDS31781 Q6ZNG2 11239429 MGI:107445 RGD:1359605 8356 HGNC:33186 "ENST00000332700.6|NM_001004329.3" +HGNC:55479 DBX2-AS1 DBX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q12 12q12 Antisense RNAs 1987 2021-03-11 2021-03-11 120766145 ENSG00000257319 +HGNC:30911 DCAF1 DDB1 and CUL4 associated factor 1 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "KIAA0800|MGC102804" VPRBP Vpr (HIV-1) binding protein "DDB1 and CUL4 associated factors|Armadillo like helical domain containing" "498|1492" 2006-01-09 2016-06-06 2016-06-06 2016-06-06 9730 ENSG00000145041 OTTHUMG00000156895 uc062kgs.1 AB018343 NM_014703 "CCDS74944|CCDS74943" Q9Y4B6 "8195203|11223251" MGI:2445220 RGD:1305176 617259 HGNC:30911 "ENST00000684031.1|NM_001387579.1" +HGNC:20229 DCAF4 DDB1 and CUL4 associated factor 4 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 DKFZp434K114 "WDR21|WDR21A" "WD repeat domain 21|WD repeat domain 21A" "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-01-15 2009-07-17 2009-07-17 2016-10-05 26094 ENSG00000119599 OTTHUMG00000160542 uc001xng.4 BC018979 NM_015604 "CCDS9809|CCDS9810|CCDS55926|CCDS41968" Q8WV16 16949367 MGI:1921078 RGD:1306241 616372 HGNC:20229 "ENST00000358377.7|NM_015604.4" +HGNC:27723 DCAF4L1 DDB1 and CUL4 associated factor 4 like 1 protein-coding gene gene with protein product Approved 4p13 04p13 WDR21B WD repeat domain 21B WD repeat domain containing 362 2005-04-08 2009-07-17 2016-06-30 2016-10-24 285429 ENSG00000182308 OTTHUMG00000160527 uc003gwk.2 BC035027 NM_001029955 CCDS33978 Q3SXM0 MGI:1921078 HGNC:27723 "ENST00000333141.7|NM_001029955.4" +HGNC:26657 DCAF4L2 DDB1 and CUL4 associated factor 4 like 2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 WDR21C WD repeat domain 21C WD repeat domain containing 362 2005-04-21 2009-07-17 2016-06-30 2016-10-25 138009 ENSG00000176566 OTTHUMG00000163767 uc003ydz.3 AL833507 NM_152418 CCDS6245 Q8NA75 14702039 MGI:1921078 HGNC:26657 "ENST00000319675.5|NM_152418.4" +HGNC:20224 DCAF5 DDB1 and CUL4 associated factor 5 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "BCRP2|D14S1461E|BCRG2|KIAA1824" WDR22 WD repeat domain 22 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-01-15 2009-07-17 2009-07-17 2016-01-15 8816 ENSG00000139990 OTTHUMG00000171699 uc001xkp.4 AB058727 NM_003861 "CCDS61481|CCDS73646|CCDS61480|CCDS32106" Q96JK2 "9740667|9521877|16949367" MGI:2444785 RGD:1306535 603812 HGNC:20224 "ENST00000341516.10|NM_003861.3" +HGNC:30002 DCAF6 DDB1 and CUL4 associated factor 6 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 PC326 IQWD1 IQ motif and WD repeats 1 "WD repeat domain containing|DDB1 and CUL4 associated factors|MicroRNA protein coding host genes" "362|498|1691" 2004-09-01 2009-07-17 2009-07-17 2016-10-05 55827 ENSG00000143164 OTTHUMG00000034572 uc001gev.5 AL136738 NM_018442 "CCDS55658|CCDS55657|CCDS1267|CCDS30933" Q58WW2 "12032826|16949367" MGI:1921356 RGD:1561961 610494 HGNC:30002 "ENST00000367840.4|NM_001198956.2" +HGNC:30915 DCAF7 DDB1 and CUL4 associated factor 7 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "HAN11|SWAN-1" "seven-WD-repeat protein of the AN11 family-1|human anthocyanin" WDR68 WD repeat domain 68 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2005-05-26 2009-07-17 2009-07-17 2020-01-06 10238 ENSG00000136485 OTTHUMG00000178902 uc021ubm.4 U94747 NM_005828 CCDS74127 P61962 "9192870|20940704|16949367" MGI:1919083 RGD:1305140 605973 HGNC:30915 "ENST00000614556.5|NM_005828.5" +HGNC:24891 DCAF8 DDB1 and CUL4 associated factor 8 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "H326|FLJ35857" WDR42A WD repeat domain 42A "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2004-09-01 2009-07-17 2009-07-17 2021-05-26 50717 ENSG00000132716 OTTHUMG00000031604 uc010pjb.2 AK093176 NM_015726 CCDS1200 Q5TAQ9 "11401431|16949367" MGI:91860 RGD:1308513 615820 404167 HGNC:24891 "ENST00000368074.6|NM_015726.4" HGNC:24891 +HGNC:55792 DCAF8-DT DCAF8 divergent transcript non-coding RNA RNA, long non-coding Approved 1q23.2 01q23.2 Divergent transcripts 1990 2021-07-28 2021-07-28 100287049 ENSG00000228606 NR_147618 +HGNC:31810 DCAF8L1 DDB1 and CUL4 associated factor 8 like 1 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 WDR42B WD repeat domain 42B WD repeat domain containing 362 2004-09-01 2009-07-17 2016-06-30 2018-11-15 139425 ENSG00000226372 OTTHUMG00000021312 uc004dbx.2 NM_001017930 CCDS35222 A6NGE4 MGI:101758 HGNC:31810 "ENST00000441525.4|NM_001017930.2" +HGNC:31811 DCAF8L2 DDB1 and CUL4 associated factor 8 like 2 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 WDR42C WD repeat domain 42C WD repeat domain containing 362 2004-09-01 2009-07-17 2016-06-30 2020-01-06 347442 ENSG00000189186 OTTHUMG00000021305 uc064ykq.1 NM_001353448 CCDS59162 P0C7V8 HGNC:31811 "ENST00000451261.7|NM_001353450.2" +HGNC:23686 DCAF10 DDB1 and CUL4 associated factor 10 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "MGC10765|FLJ23201" WDR32 WD repeat domain 32 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2005-01-18 2009-07-17 2009-07-17 2015-07-09 79269 ENSG00000122741 OTTHUMG00000019934 uc004aao.5 BC003520 NM_024345 "CCDS75835|CCDS6613" Q5QP82 16949367 MGI:2140179 RGD:1304730 HGNC:23686 "ENST00000377724.8|NM_024345.5" +HGNC:20258 DCAF11 DDB1 and CUL4 associated factor 11 protein-coding gene gene with protein product Approved 14q12 14q12 "PRO2389|GL014" WDR23 WD repeat domain 23 "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-01-15 2009-07-17 2009-07-17 2016-10-05 80344 ENSG00000100897 OTTHUMG00000028793 uc001wlw.4 AF130070 NM_001163484 "CCDS9610|CCDS41929" Q8TEB1 16949367 MGI:90168 RGD:1311288 613317 HGNC:20258 "ENST00000446197.8|NM_025230.5" +HGNC:19911 DCAF12 DDB1 and CUL4 associated factor 12 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "DKFZP434O125|MGC1058|CT102|TCC52" cancer/testis antigen 102 "KIAA1892|WDR40A" "KIAA1892|WD repeat domain 40A" "WD repeat domain containing|DDB1 and CUL4 associated factors" "362|498" 2003-11-21 2009-07-17 2009-07-17 2016-10-05 25853 ENSG00000198876 OTTHUMG00000019806 uc003ztt.3 AB067479 NM_015397 CCDS6549 Q5T6F0 "11572484|9110174|16949367" MGI:1916220 RGD:1594034 HGNC:19911 "ENST00000361264.9|NM_015397.4" +HGNC:29395 DCAF12L1 DDB1 and CUL4 associated factor 12 like 1 protein-coding gene gene with protein product Approved Xq25 Xq25 KIAA1892L WDR40B WD repeat domain 40B WD repeat domain containing 362 2004-06-03 2009-07-17 2016-06-30 2016-06-30 139170 ENSG00000198889 OTTHUMG00000022353 uc004eul.4 BC035674 NM_178470 CCDS14610 Q5VU92 12477932 MGI:2444462 RGD:1563873 HGNC:29395 "ENST00000371126.3|NM_178470.5" +HGNC:32950 DCAF12L2 DDB1 and CUL4 associated factor 12 like 2 protein-coding gene gene with protein product Approved Xq25 Xq25 WDR40C WD repeat domain 40C WD repeat domain containing 362 2006-07-06 2009-07-17 2016-06-30 2016-06-30 340578 ENSG00000198354 OTTHUMG00000022348 uc004euk.3 AL445072 NM_001013628 CCDS43991 Q5VW00 MGI:2445178 RGD:1560768 HGNC:32950 "ENST00000360028.4|NM_001013628.3" +HGNC:24535 DCAF13 DDB1 and CUL4 associated factor 13 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "DKFZP564O0463|Gm83|HSPC064|Sof1" WDSOF1 WD repeats and SOF1 domain containing "WD repeat domain containing|DDB1 and CUL4 associated factors|SSU processome" "362|498|1484" 2005-05-26 2009-07-17 2009-07-17 2017-05-26 25879 ENSG00000164934 OTTHUMG00000164888 uc064pja.1 AK074725 NM_015420 CCDS34934 Q9NV06 "11042152|16949367" MGI:2684929 RGD:1308458 616196 HGNC:24535 "ENST00000612750.5|NM_015420.7" +HGNC:43866 DCAF13P1 DDB1 and CUL4 associated factor 13 pseudogene 1 pseudogene pseudogene Approved 7q22.3 07q22.3 2012-04-04 2014-11-19 100129009 ENSG00000242562 OTTHUMG00000157588 NG_012000 PGOHUM00000233518 HGNC:43866 +HGNC:43867 DCAF13P2 DDB1 and CUL4 associated factor 13 pseudogene 2 pseudogene pseudogene Approved 5p15.1 05p15.1 2012-04-04 2014-11-18 100288979 ENSG00000250816 OTTHUMG00000160375 NG_021876 PGOHUM00000235510 HGNC:43867 +HGNC:43868 DCAF13P3 DDB1 and CUL4 associated factor 13 pseudogene 3 pseudogene pseudogene Approved 15q21.2 15q21.2 2012-04-04 2014-11-18 100132724 ENSG00000259378 OTTHUMG00000172459 NR_027642 PGOHUM00000247117 HGNC:43868 +HGNC:25095 DCAF15 DDB1 and CUL4 associated factor 15 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 MGC99481 C19orf72 chromosome 19 open reading frame 72 DDB1 and CUL4 associated factors 498 2009-04-02 2009-07-17 2009-07-17 2015-07-09 90379 ENSG00000132017 OTTHUMG00000181882 uc002mxt.4 BC002926 NM_138353 CCDS32926 Q66K64 16949367 MGI:2684420 RGD:1304881 HGNC:25095 "ENST00000254337.11|NM_138353.4" +HGNC:25987 DCAF16 DDB1 and CUL4 associated factor 16 protein-coding gene gene with protein product Approved 4p15.31 04p15.31 FLJ20280 C4orf30 chromosome 4 open reading frame 30 DDB1 and CUL4 associated factors 498 2006-07-17 2009-07-17 2009-07-17 2016-10-05 54876 ENSG00000163257 OTTHUMG00000128536 uc003gpn.3 AK000287 NM_017741 CCDS3423 Q9NXF7 12477932 RGD:7661830 HGNC:25987 "ENST00000382247.6|NM_017741.4" +HGNC:25784 DCAF17 DDB1 and CUL4 associated factor 17 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 FLJ13096 Woodhouse-Sakati syndrome C2orf37 chromosome 2 open reading frame 37 DDB1 and CUL4 associated factors 498 2006-03-24 2009-07-17 2009-07-17 2021-05-26 80067 ENSG00000115827 OTTHUMG00000132259 uc002ugx.3 AK023158 NM_025000 "CCDS2243|CCDS54419" Q5H9S7 16949367 MGI:1923013 RGD:1565551 612515 171038 HGNC:25784 "ENST00000375255.8|NM_025000.4" HGNC:25784 +HGNC:26238 DCAKD dephospho-CoA kinase domain containing protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ22955 2005-12-20 2020-01-06 79877 ENSG00000172992 OTTHUMG00000179947 uc032fjr.2 BC006546 NM_024819 CCDS11493 Q8WVC6 MGI:1915337 RGD:1359211 HGNC:26238 "ENST00000651974.1|NM_001288655.2" +HGNC:24459 DCANP1 dendritic cell associated nuclear protein protein-coding gene gene with protein product Approved 5q31.1 05q31.1 DCNP1 dendritic cell nuclear protein 1 C5orf20 chromosome 5 open reading frame 20 2005-06-09 2014-08-15 2016-06-10 2016-06-10 140947 ENSG00000251380 OTTHUMG00000163308 BF358185 NM_130848 CCDS4186 Q8TF63 "10737800|11798177|20693543" 609710 HGNC:24459 "ENST00000503143.3|NM_130848.3" +HGNC:21479 DCBLD1 discoidin, CUB and LCCL domain containing 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "MGC46341|dJ94G16.1" 2003-06-17 2016-10-05 285761 ENSG00000164465 OTTHUMG00000015455 uc003pxs.4 AK055462 NM_173674 CCDS34522 Q8N8Z6 MGI:1913936 RGD:1307211 HGNC:21479 "ENST00000338728.10|NM_001366458.2" +HGNC:24627 DCBLD2 discoidin, CUB and LCCL domain containing 2 protein-coding gene gene with protein product Approved 3q12.1 03q12.1 "CLCP1|ESDN" 2004-05-25 2016-10-05 131566 ENSG00000057019 OTTHUMG00000151985 uc003dtd.4 NM_080927 CCDS46878 Q96PD2 11447234 MGI:1920629 RGD:620543 608698 HGNC:24627 "ENST00000326840.11|NM_080927.4" +HGNC:2701 DCC DCC netrin 1 receptor protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "IGDCC1|NTN1R1" immunoglobulin superfamily, DCC subclass, member 1 deleted in colorectal carcinoma "Fibronectin type III domain containing|I-set domain containing|MicroRNA protein coding host genes" "555|593|1691" 1990-05-25 2014-06-20 2021-04-13 1630 ENSG00000187323 OTTHUMG00000132698 uc002lfe.3 X76132 NM_005215 CCDS11952 P43146 "2294591|24400119" MGI:94869 RGD:2492 LRG_1107|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1107.xml 120470 244810 HGNC:2701 "ENST00000442544.7|NM_005215.4" HGNC:2701 +HGNC:14669 DCD dermcidin protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "AIDD|PIF|DSEP|HCAP|DCD-1" "proteolysis inducing factor|preproteolysin|diffusible survival/evasion peptide|survival promoting peptide" 2001-02-27 2016-10-05 117159 ENSG00000161634 OTTHUMG00000169937 uc001sgj.4 AF144011 NM_053283 "CCDS73478|CCDS8884" P81605 11694882 606634 HGNC:14669 "ENST00000293371.11|NM_053283.4" +HGNC:20625 DCDC1 doublecortin domain containing 1 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 FLJ46154 DCDC5 doublecortin domain containing 5 Doublecortin superfamily 1369 2003-03-14 2018-09-20 341019 ENSG00000170959 OTTHUMG00000150144 uc001msv.4 AY247970 NM_181807 "CCDS73270|CCDS7872" M0R2J8 12820024 RGD:1562221 608062 HGNC:20625 "ENST00000684477.1|NM_001387274.1" +HGNC:18141 DCDC2 doublecortin domain containing 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "RU2|KIAA1154|DCDC2A|NPHP19" nephronophthisis 19 DFNB66 deafness, autosomal recessive 66 Doublecortin superfamily 1369 2003-05-20 2020-07-21 51473 ENSG00000146038 OTTHUMG00000016275 uc003ndx.4 AB032980 NM_016356 CCDS4550 Q9UHG0 "10601354|10574461|25557784|25601850" MGI:2652818 RGD:1310227 605755 434377 HGNC:18141 "ENST00000378454.8|NM_016356.5" HGNC:18141 +HGNC:32576 DCDC2B doublecortin domain containing 2B protein-coding gene gene with protein product Approved 1p35.2 01p35.2 Doublecortin superfamily 1369 2006-04-21 2018-11-15 149069 ENSG00000222046 OTTHUMG00000005741 uc001bun.2 BC128073 NM_001099434 CCDS44100 A2VCK2 MGI:2686212 RGD:1583476 HGNC:32576 "ENST00000409358.2|NM_001099434.2" +HGNC:32696 DCDC2C doublecortin domain containing 2C protein-coding gene gene with protein product Approved 2p25.3 02p25.3 doublecortin domain containing 2C pseudogene Doublecortin superfamily 1369 2006-04-21 2010-09-24 2018-11-15 728597 ENSG00000214866 OTTHUMG00000151490 uc032nde.2 AC010907 NM_001287444 CCDS74481 A8MYV0 MGI:1915761 RGD:1559651 HGNC:32696 "ENST00000399143.9|NM_001287444.2" +HGNC:13681 DCHS1 dachsous cadherin-related 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FIB1|KIAA1773|FLJ11790|CDHR6" cadherin-related family member 6 "CDH25|PCDH16" "protocadherin 16|dachsous 1 (Drosophila)" Cadherin related 24 2000-09-28 2004-09-03 2013-10-04 2015-09-11 8642 ENSG00000166341 OTTHUMG00000133398 uc001mem.3 AB000895 NM_003737 CCDS7771 Q96JQ0 9199196 MGI:2685011 RGD:1309878 603057 371941 HGNC:13681 "ENST00000299441.5|NM_003737.4" HGNC:13681 +HGNC:40650 DCHS1-AS1 DCHS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2020-09-16 2020-09-16 118597837 ENSG00000255390 OTTHUMG00000165533 +HGNC:23111 DCHS2 dachsous cadherin-related 2 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "CDHJ|FLJ20047|PCDHJ|CDHR7" cadherin-related family member 7 "CDH27|PCDH23" "cadherin-like 27|dachsous 2 (Drosophila)" Cadherin related 24 2003-09-11 2004-09-03 2013-10-04 2016-10-05 54798 ENSG00000197410 OTTHUMG00000161556 uc003inw.2 BC140919 NM_001142552 "CCDS47150|CCDS87275" Q6V1P9 15003449 MGI:2685263 RGD:1563329 612486 470172 HGNC:23111 "ENST00000357232.10|NM_001358235.2" +HGNC:2704 DCK deoxycytidine kinase protein-coding gene gene with protein product Approved 4q13.3 04q13.3 Deoxyribonucleoside kinases 1699 1991-08-08 2016-10-05 1633 ENSG00000156136 OTTHUMG00000129908 uc003hfx.4 M60527 NM_000788 CCDS3548 P27707 8406512 MGI:102726 RGD:620667 125450 2.7.1.74 HGNC:2704 "ENST00000286648.10|NM_000788.3" +HGNC:2700 DCLK1 doublecortin like kinase 1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "KIAA0369|DCLK|DCDC3A" DCAMKL1 "doublecortin and CaM kinase-like 1|doublecortin-like kinase 1" Doublecortin superfamily 1369 1999-02-22 2007-04-02 2015-11-30 2015-11-30 9201 ENSG00000133083 OTTHUMG00000016729 uc001uvf.4 AB002367 NM_004734 "CCDS9354|CCDS73561|CCDS81762|CCDS55895" O15075 "9747029|10036192" MGI:1330861 RGD:68437 604742 objectId:2005 HGNC:2700 "ENST00000360631.8|NM_001330071.2" +HGNC:19002 DCLK2 doublecortin like kinase 2 protein-coding gene gene with protein product Approved 4q31.23-q31.3 04q31.23-q31.3 "MGC45428|DCDC3|DCDC3B|DCK2" DCAMKL2 "doublecortin and CaM kinase-like 2|doublecortin-like kinase 2" Doublecortin superfamily 1369 2005-01-20 2007-04-02 2015-11-30 2019-02-19 166614 ENSG00000170390 OTTHUMG00000161444 uc003ilm.5 BC032726 NM_001040260 "CCDS47142|CCDS34076" Q8N568 "23385585|26526391" MGI:1918012 RGD:1308384 613166 objectId:2006 HGNC:19002 "ENST00000296550.12|NM_001040260.4" +HGNC:19005 DCLK3 doublecortin like kinase 3 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "KIAA1765|DCDC3C" DCAMKL3 "doublecortin and CaM kinase-like 3|doublecortin-like kinase 3" Doublecortin superfamily 1369 2005-01-20 2007-04-02 2015-11-30 2018-11-15 85443 ENSG00000163673 OTTHUMG00000155805 uc003cgi.2 AB051552 NM_033403 CCDS43064 Q9C098 "11214970|16869982" MGI:3039580 RGD:1309232 613167 objectId:2007 HGNC:19005 "ENST00000636136.2|NM_001394672.2" +HGNC:17660 DCLRE1A DNA cross-link repair 1A protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "SNM1|PSO2|KIAA0086|hSNM1" PSO2 homolog (S. cerevisiae) DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae) DNA cross-link repair family 2035 2002-01-18 2010-06-24 2016-10-05 9937 ENSG00000198924 OTTHUMG00000019077 uc031pxf.2 NM_014881 CCDS7584 Q6PJP8 "9806498|17804464" MGI:1930042 RGD:1306156 609682 HGNC:17660 "ENST00000361384.7|NM_014881.5" +HGNC:17641 DCLRE1B DNA cross-link repair 1B protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "SNM1B|FLJ12810|FLJ13998|APOLLO" PSO2 homolog (S. cerevisiae) DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae) DNA cross-link repair family 2035 2002-01-18 2010-06-24 2021-04-13 64858 ENSG00000118655 OTTHUMG00000011937 uc001eeg.4 BC029687 NM_022836 CCDS866 Q9H816 MGI:2156057 RGD:1310343 LRG_1219|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1219.xml 609683 470174 HGNC:17641 "ENST00000650450.2|NM_022836.4" +HGNC:17642 DCLRE1C DNA cross-link repair 1C protein-coding gene gene with protein product Approved 10p13 10p13 "ARTEMIS|FLJ11360|SNM1C|A-SCID" PSO2 homolog (S. cerevisiae) SCIDA "severe combined immunodeficiency, type a (Athabascan)|DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)" DNA cross-link repair family 2035 2002-01-18 2010-06-24 2021-05-26 64421 ENSG00000152457 OTTHUMG00000017716 uc001inn.5 BC022254 NM_022487 "CCDS31150|CCDS7105|CCDS31149" Q96SD1 "11336668|9443881" MGI:2441769 RGD:708574 "DCLRE1Cbase: Mutation registry for Artemis deficiency|http://structure.bmc.lu.se/idbase/DCLRE1Cbase/|LRG_54|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_54.xml" 605988 121027 HGNC:17642 "ENST00000378278.7|NM_001033855.3" HGNC:17642 +HGNC:44877 DCLRE1CP1 DNA cross-link repair 1C pseudogene 1 pseudogene pseudogene Approved 10p13 10p13 2012-12-10 2020-04-20 105376432 ENSG00000237470 OTTHUMG00000017720 NR_144469 PGOHUM00000238362 HGNC:44877 +HGNC:2705 DCN decorin protein-coding gene gene with protein product Approved 12q21.33 12q21.33 "DSPG2|SLRR1B" decorin proteoglycan Small leucine rich repeat proteoglycans 573 1989-07-18 2014-04-16 1634 ENSG00000011465 OTTHUMG00000169998 uc001tbu.4 AF138300 NM_133507 "CCDS44951|CCDS9039|CCDS9040|CCDS9041|CCDS9042" P07585 8432526 MGI:94872 RGD:61895 125255 121034 HGNC:2705 "ENST00000052754.10|NM_001920.5" HGNC:2705 +HGNC:18714 DCP1A decapping mRNA 1A protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "HSA275986|SMIF|SMAD4IP1" DCP1 decapping enzyme homolog A (S. cerevisiae) 2005-01-07 2013-05-02 2015-07-16 55802 ENSG00000272886 OTTHUMG00000158193 uc032rob.2 AJ275986 NM_018403 "CCDS74946|CCDS46847" Q9NPI6 MGI:1923151 RGD:1561298 607010 HGNC:18714 "ENST00000610213.6|NM_018403.7" +HGNC:24451 DCP1B decapping mRNA 1B protein-coding gene gene with protein product Approved 12p13.33 12p13.33 FLJ31638 DCP1 decapping enzyme homolog B (S. cerevisiae) 2005-01-07 2013-05-02 2015-07-16 196513 ENSG00000151065 OTTHUMG00000168113 uc001qjx.2 AY146652 NM_152640 "CCDS31727|CCDS81651" Q8IZD4 "12417715|15067023" MGI:2442404 RGD:1562214 609843 HGNC:24451 "ENST00000280665.11|NM_152640.5" +HGNC:24452 DCP2 decapping mRNA 2 protein-coding gene gene with protein product Approved 5q22.2 05q22.2 NUDT20 "nudix (nucleoside diphosphate linked moiety X)-type motif 20|M(7)GpppN-mRNA hydrolase" DCP2 decapping enzyme homolog (S. cerevisiae) Nudix hydrolase family 667 2005-01-07 2013-05-02 2016-10-05 167227 ENSG00000172795 OTTHUMG00000162853 uc003kqh.4 AY135173 NM_152624 "CCDS56377|CCDS34210" Q8IU60 "12218187|12417715" MGI:1917890 RGD:1562909 609844 3.6.1.62 HGNC:24452 "ENST00000389063.3|NM_152624.6" +HGNC:29812 DCPS decapping enzyme, scavenger protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "HSPC015|HINT-5|HSL1|HINT5" 5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase Histidine triad superfamily 1811 2005-01-07 2019-04-17 28960 ENSG00000110063 OTTHUMG00000165829 uc001qdp.3 AF077201 NM_014026 CCDS8473 Q96C86 "12198172|14523240" MGI:1916555 RGD:628887 610534 457106 3.6.1.59 HGNC:29812 "ENST00000263579.5|NM_014026.6" HGNC:29812 +HGNC:2708 DCR Down syndrome chromosome region other region Approved 21q22.3 21q22.3 DSCR 1990-09-10 2007-11-16 1637 1829580 +HGNC:26539 DCST1 DC-STAMP domain containing 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ32785 Ring finger proteins 58 2005-04-25 2017-12-01 149095 ENSG00000163357 OTTHUMG00000041314 uc001fgn.3 AK057347 NM_152494 "CCDS1083|CCDS44235" Q5T197 27782195 MGI:1925022 RGD:1307756 HGNC:26539 "ENST00000295542.6|NM_152494.4" HGNC:26539 +HGNC:41147 DCST1-AS1 DCST1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 RP11-307C12.11 Antisense RNAs 1987 2016-12-09 2019-08-08 100505666 ENSG00000232093 OTTHUMG00000041316 BU634037 NR_040772 "27835578|31364110" HGNC:41147 +HGNC:26562 DCST2 DC-STAMP domain containing 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ32934 2005-05-16 2005-08-09 2016-10-05 127579 ENSG00000163354 OTTHUMG00000037371 uc001fgm.4 AK057496 NM_144622 CCDS1082 Q5T1A1 MGI:2685606 RGD:1564557 HGNC:26562 "ENST00000368424.4|NM_144622.3" +HGNC:18549 DCSTAMP dendrocyte expressed seven transmembrane protein protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "DC-STAMP|FIND" "Dendritic cells (DC)-specific transmembrane protein|IL-Four INDuced" TM7SF4 transmembrane 7 superfamily member 4 2004-06-25 2012-03-27 2012-03-27 2014-11-19 81501 ENSG00000164935 OTTHUMG00000164890 uc003ylx.3 AF305068 NM_030788 "CCDS59111|CCDS6301" Q9H295 "11169400|11345591" MGI:1923016 RGD:1310435 605933 HGNC:18549 "ENST00000297581.2|NM_030788.4" +HGNC:2709 DCT dopachrome tautomerase protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "dopachrome delta-isomerase|L-dopachrome isomerase" TYRP2 tyrosine-related protein 2 1993-11-04 2012-09-28 2016-10-05 1638 ENSG00000080166 OTTHUMG00000017206 uc001vlv.6 D17547 NM_001129889 "CCDS9470|CCDS45060" P40126 8306979 MGI:102563 RGD:1564975 191275 5.3.3.12 HGNC:2709 "ENST00000377028.10|NM_001922.5" HGNC:2709 +HGNC:2710 DCTD dCMP deaminase protein-coding gene gene with protein product Approved 4q35.1 04q35.1 1995-10-02 2014-11-19 1635 ENSG00000129187 OTTHUMG00000160685 uc003ivf.4 L12136 NM_001012732 "CCDS34108|CCDS3831" P32321 MGI:2444529 RGD:1359671 607638 3.5.4.12 HGNC:2710 "ENST00000438320.7|NM_001921.3" +HGNC:2711 DCTN1 dynactin subunit 1 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 p150 glued homolog (Drosophila) dynactin 1 (p150, Glued (Drosophila) homolog) Dynactin subunits 943 1995-10-03 2015-11-26 2021-05-26 1639 ENSG00000204843 OTTHUMG00000129963 uc002skw.2 NM_004082 "CCDS54369|CCDS1939|CCDS46343|CCDS46342|CCDS46341|CCDS54368" Q14203 1828535 MGI:107745 RGD:62038 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_237|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_237.xml" DCTN1 601143 140067 HGNC:2711 "ENST00000628224.3|NM_004082.5" HGNC:2711 +HGNC:44151 DCTN1-AS1 DCTN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p13.1 02p13.1 DCTN1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100189589 ENSG00000237737 OTTHUMG00000152826 uc002skz.3 BC042946 NR_024463 DCTN1-AS1 HGNC:44151 +HGNC:2712 DCTN2 dynactin subunit 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "RBP50|DCTN-50" dynactin 2 (p50) Dynactin subunits 943 1995-10-03 2015-11-26 2016-10-24 10540 ENSG00000175203 OTTHUMG00000170124 uc001som.3 U50733 NM_006400 "CCDS73489|CCDS58245|CCDS44930" Q13561 8647893 MGI:107733 RGD:1303182 607376 HGNC:2712 "ENST00000548249.6|NM_001261413.2" +HGNC:2713 DCTN3 dynactin subunit 3 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 DCTN-22 dynactin 3 (p22) Dynactin subunits 943 2000-09-01 2015-11-26 2016-10-05 11258 ENSG00000137100 OTTHUMG00000019830 uc003zux.3 AF082513 NM_001281425 "CCDS65029|CCDS6561|CCDS65028|CCDS6560" O75935 "9722614|11306820" MGI:1859251 RGD:1309547 607387 HGNC:2713 "ENST00000259632.12|NM_007234.5" +HGNC:15518 DCTN4 dynactin subunit 4 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 dynactin 4 (p62) Dynactin subunits 943 2001-04-06 2015-11-26 2015-11-26 51164 ENSG00000132912 OTTHUMG00000130079 uc003lsv.4 AF195120 NM_001135643 "CCDS47310|CCDS4310|CCDS47311" Q9UJW0 "10843801|16554302" MGI:1914915 RGD:71023 614758 308262 HGNC:15518 "ENST00000447998.7|NM_016221.4" +HGNC:24594 DCTN5 dynactin subunit 5 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "MGC3248|p25" dynactin 5 (p25) Dynactin subunits 943 2005-09-05 2015-11-26 2016-10-05 84516 ENSG00000166847 OTTHUMG00000131610 uc002dly.3 NM_032486 "CCDS58435|CCDS58436|CCDS10615" Q9BTE1 "10525537|15043994" MGI:1891689 RGD:1305654 612962 470176 HGNC:24594 "ENST00000300087.7|NM_032486.4" +HGNC:16964 DCTN6 dynactin subunit 6 protein-coding gene gene with protein product Approved 8p12 08p12 WS-3 dynactin 6 Dynactin subunits 943 2003-03-20 2015-11-26 2015-11-26 10671 ENSG00000104671 OTTHUMG00000163828 uc003xhy.4 D84145 NM_006571 CCDS6076 O00399 9168138 MGI:1343154 RGD:1307549 612963 HGNC:16964 "ENST00000221114.8|NM_006571.4" +HGNC:55241 DCTN6-DT DCTN6 divergent transcript non-coding RNA RNA, long non-coding Approved 8p12 08p12 Divergent transcripts 1990 2020-09-17 2020-09-17 118597835 ENSG00000271869 +HGNC:28777 DCTPP1 dCTP pyrophosphatase 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "MGC5627|RS21C6|CDA03|XTP3TPA" XTP3-transactivated protein A 2008-12-18 2014-11-19 79077 ENSG00000179958 OTTHUMG00000132416 uc002dyf.4 BC001344 NM_024096 CCDS10680 Q9H773 15740738 MGI:1913672 RGD:620933 615840 3.6.1.12 HGNC:28777 "ENST00000319285.5|NM_024096.2" +HGNC:18184 DCUN1D1 defective in cullin neddylation 1 domain containing 1 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "RP42|SCRO|DCUN1L1|Tes3|SCCRO" squamous cell carcinoma related oncogene DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) 2005-07-11 2016-01-13 2016-10-05 54165 ENSG00000043093 OTTHUMG00000158314 uc003fld.2 "AF292100|AK056335" NM_020640 "CCDS3240|CCDS77862" Q96GG9 "10777668|15988528" MGI:2150386 RGD:1309668 605905 HGNC:18184 "ENST00000292782.9|NM_020640.4" +HGNC:20328 DCUN1D2 defective in cullin neddylation 1 domain containing 2 protein-coding gene gene with protein product Approved 13q34 13q34 "FLJ10704|FLJ20092" C13orf17 "chromosome 13 open reading frame 17|DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)" 2003-01-29 2005-10-04 2016-01-13 2016-01-13 55208 ENSG00000150401 OTTHUMG00000017390 uc001vtr.2 AK001566 NM_018185 CCDS32013 Q6PH85 15988528 MGI:2142792 RGD:1582994 HGNC:20328 "ENST00000478244.6|NM_001014283.2" +HGNC:39889 DCUN1D2-AS DCUN1D2 antisense RNA non-coding RNA RNA, long non-coding Approved 13q34 13q34 DCUN1D2-AS2 DCUN1D2 antisense RNA 2 Antisense RNAs 1987 2011-04-08 2013-02-18 2013-02-18 2014-11-19 100874229 ENSG00000233613 OTTHUMG00000017391 uc058ynf.1 AI203167 DCUN1D2-AS +HGNC:28734 DCUN1D3 defective in cullin neddylation 1 domain containing 3 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "MGC48972|FLJ41725|DKFZp686O0290|SCCRO3" DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) 2005-10-04 2016-01-13 2016-01-13 123879 ENSG00000188215 OTTHUMG00000131553 uc002dhz.4 BC040442 NM_173475 CCDS10592 Q8IWE4 15988528 MGI:2679003 RGD:1308893 616167 HGNC:28734 "ENST00000324344.9|NM_173475.4" +HGNC:28998 DCUN1D4 defective in cullin neddylation 1 domain containing 4 protein-coding gene gene with protein product Approved 4q12 04q12 KIAA0276 DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) 2005-07-11 2016-01-13 2016-10-05 23142 ENSG00000109184 OTTHUMG00000128700 uc003gze.5 D87466 NM_015115 "CCDS33982|CCDS75123|CCDS3487" Q92564 15988528 MGI:2140972 RGD:1310422 612977 HGNC:28998 "ENST00000334635.10|NM_001040402.3" +HGNC:28409 DCUN1D5 defective in cullin neddylation 1 domain containing 5 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "MGC2714|FLJ32431" DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) 2005-10-04 2016-01-13 2016-01-13 84259 ENSG00000137692 OTTHUMG00000165822 uc001phm.4 NM_032299 CCDS8325 Q9BTE7 15988528 MGI:1924113 RGD:1307008 616522 HGNC:28409 "ENST00000260247.10|NM_032299.4" +HGNC:2714 DCX doublecortin protein-coding gene gene with protein product Approved Xq23 Xq23 "SCLH|DC|LISX|DBCN|XLIS" doublecortex doublecortex; lissencephaly, X-linked (doublecortin) Doublecortin superfamily 1369 1998-03-24 2008-08-01 2021-05-26 1641 ENSG00000077279 OTTHUMG00000022204 uc065asg.1 AF040254 NM_178153 "CCDS14557|CCDS14558|CCDS83483" O43602 "9489699|9489700" MGI:1277171 RGD:620670 300121 121038 HGNC:2714 "ENST00000636035.2|NM_001195553.2" HGNC:2714 +HGNC:18985 DCXR dicarbonyl and L-xylulose reductase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIDCR|DCR|SDR20C1|HCR2|P34H" "short chain dehydrogenase/reductase family 20C, member 1|human carbonyl reductase 2|sperm surface protein P34H|kidney dicarbonyl reductase" dicarbonyl/L-xylulose reductase Short chain dehydrogenase/reductase superfamily 743 2002-07-25 2016-06-21 2021-05-26 51181 ENSG00000169738 OTTHUMG00000178483 uc002kdg.4 AB013846 NM_001195218 CCDS11799 Q7Z4W1 "11882650|19027726" MGI:1915130 RGD:620031 608347 274023 1.1.1.10 HGNC:18985 "ENST00000306869.7|NM_016286.4" HGNC:18985 +HGNC:54083 DCXR-DT DCXR divergent transcript non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 RP13-650J16.1 Divergent transcripts 1990 2018-10-10 2020-10-21 113523640 ENSG00000264569 NR_159947 30279207 HGNC:54083 +HGNC:28360 DDA1 DET1 and DDB1 associated 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "PCIA1|MGC2594" C19orf58 chromosome 19 open reading frame 58 2006-08-22 2007-10-25 2007-10-25 2020-01-06 79016 ENSG00000130311 OTTHUMG00000182765 uc002ngd.4 BC000615 NM_024050 CCDS12357 Q9BW61 17452440 MGI:1913748 RGD:1584153 HGNC:28360 "ENST00000359866.9|NM_024050.6" +HGNC:2715 DDAH1 dimethylarginine dimethylaminohydrolase 1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 DDAH 1999-10-22 2016-10-05 23576 ENSG00000153904 OTTHUMG00000191181 uc057iaf.1 AB001915 NM_001134445 "CCDS44170|CCDS81348|CCDS705" O94760 9874257 MGI:1916469 RGD:70968 604743 objectId:1247 3.5.3.18 HGNC:2715 "ENST00000284031.13|NM_012137.4" +HGNC:2716 DDAH2 dimethylarginine dimethylaminohydrolase 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 G6A 1999-10-22 2016-12-09 23564 ENSG00000213722 OTTHUMG00000031212 uc011irf.3 AF070667 NM_001303007 CCDS4718 O95865 10493931 MGI:1859016 RGD:1302955 604744 objectId:1248 3.5.3.18 HGNC:2716 "ENST00000375789.7|NM_001303007.2" +HGNC:2717 DDB1 damage specific DNA binding protein 1 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 damage-specific DNA binding protein 1 (127kD) Nucleotide excision repair 1269 1995-07-06 2016-02-09 2021-05-26 1642 ENSG00000167986 OTTHUMG00000168209 uc001nrc.6 AJ002955 NM_001923 CCDS31576 Q16531 "8530102|10574459" MGI:1202384 RGD:621889 LRG_474|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_474.xml 600045 HGNC:2717 "ENST00000301764.12|NM_001923.5" +HGNC:2718 DDB2 damage specific DNA binding protein 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DDBB|UV-DDB2|FLJ34321|XPE" "xeroderma pigmentosum group E protein|UV-damaged DNA-binding protein 2|DDB p48 subunit" damage-specific DNA binding protein 2 (48kD) "WD repeat domain containing|Xeroderma pigmentosum complementation groups|Nucleotide excision repair" "362|1125|1269" 1995-07-06 2016-02-09 2021-05-26 1643 ENSG00000134574 OTTHUMG00000187453 uc001neb.3 NM_000107 "CCDS7927|CCDS73284" Q92466 "8407967|8530102" MGI:1355314 RGD:1310164 LRG_467|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_467.xml DDB2 600811 121045 HGNC:2718 "ENST00000256996.9|NM_000107.3" HGNC:2718 +HGNC:2719 DDC dopa decarboxylase protein-coding gene gene with protein product Approved 7p12.2-p12.1 07p12.2-p12.1 AADC aromatic L-amino acid decarboxylase 1991-06-03 2015-11-13 2018-02-13 1644 ENSG00000132437 OTTHUMG00000023353 uc003tpg.5 NM_000790 "CCDS75598|CCDS56486|CCDS56485|CCDS75599|CCDS56487|CCDS5511" P20711 1612608 MGI:94876 RGD:2494 107930 121047 objectId:1271 4.1.1.28 HGNC:2719 "ENST00000444124.7|NM_001082971.2" HGNC:2719 +HGNC:40171 DDC-AS1 DDC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p12.1 07p12.1 Antisense RNAs 1987 2014-06-18 2014-11-19 100129427 ENSG00000226122 OTTHUMG00000155976 NR_033845 DDC-AS1 HGNC:40171 +HGNC:19714 DDHD1 DDHD domain containing 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "KIAA1705|PA-PLA1|PAPLA1|iPLA1α" "phosphatidic acid-preferring phospholipase A1|intracellular phospholipase A1 alpha" SPG28 spastic paraplegia 28 (autosomal recessive) 2002-11-20 2021-02-01 80821 ENSG00000100523 OTTHUMG00000140305 uc001xah.4 AB051492 NM_001160147 "CCDS53895|CCDS53896|CCDS9714" Q8NEL9 "11214970|20359546" MGI:2150302 RGD:1308576 614603 180273 HGNC:19714 "ENST00000673822.2|NM_001160148.2" HGNC:19714 +HGNC:55441 DDHD1-DT DDHD1 divergent transcript non-coding RNA RNA, long non-coding Approved 14q22.1 14q22.1 Divergent transcripts 1990 2021-01-14 2021-01-14 101927620 ENSG00000258731 NR_110062 +HGNC:29106 DDHD2 DDHD domain containing 2 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "KIAA0725|SPG54|iPLA1γ" intracellular phospholipase A1 gamma SAMWD1 SAM, WWE and DDHD domain containing 1 Sterile alpha motif domain containing 760 2004-02-23 2004-04-07 2004-04-05 2021-02-01 23259 ENSG00000085788 OTTHUMG00000164095 uc003xlb.4 AK056525 NM_015214 CCDS34883 O94830 "9872452|11788596|19632984|20932832" MGI:1919358 RGD:1585818 615003 321575 HGNC:29106 "ENST00000397166.7|NM_015214.3" HGNC:29106 +HGNC:18961 DDI1 DNA damage inducible 1 homolog 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 FLJ36017 "DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)|DNA-damage inducible 1 homolog 1 (S. cerevisiae)|DNA-damage inducible 1 homolog 1" Peptidase family A28 2098 2005-11-14 2015-11-16 2015-11-16 414301 ENSG00000170967 OTTHUMG00000165990 uc001phr.3 NM_001001711 CCDS31660 Q8WTU0 MGI:1919079 RGD:1559430 A28.A01 HGNC:18961 "ENST00000302259.5|NM_001001711.3" +HGNC:24578 DDI2 DNA damage inducible 1 homolog 2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 MGC14844 "DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)|DNA-damage inducible 1 homolog 2 (S. cerevisiae)|DNA-damage inducible 1 homolog 2" Peptidase family A28 2098 2005-11-14 2015-11-16 2019-07-05 84301 ENSG00000197312 OTTHUMG00000002381 uc001awz.4 NM_032341 CCDS30607 Q5TDH0 "27528193|27461074" MGI:1917244 RGD:1311815 A28.003 HGNC:24578 "ENST00000480945.6|NM_032341.5" +HGNC:26351 DDIAS DNA damage induced apoptosis suppressor protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "FLJ38838|FLJ25416|noxin" nitric oxide-inducible C11orf82 chromosome 11 open reading frame 82 2007-07-17 2014-05-30 2016-02-09 2019-02-19 220042 ENSG00000165490 OTTHUMG00000166929 AK096157 NM_145018 CCDS8263 Q8IXT1 "26493727|29242605" MGI:1921291 RGD:1559690 618045 HGNC:26351 "ENST00000533655.6|NM_145018.4" +HGNC:2726 DDIT3 DNA damage inducible transcript 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "CHOP10|GADD153|CHOP" C/EBP zeta DNA-damage-inducible transcript 3 MicroRNA protein coding host genes 1691 1991-09-11 2015-11-16 2016-10-05 1649 ENSG00000175197 OTTHUMG00000170046 uc001soi.4 BC003637 NM_004083 "CCDS8943|CCDS55838" "P0DPQ6|P35638" 1990262 MGI:109247 RGD:62391 DDIT3 126337 321333 HGNC:2726 "ENST00000346473.8|NM_004083.6" +HGNC:24944 DDIT4 DNA damage inducible transcript 4 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "RTP801|FLJ20500|REDD-1|REDD1|Dig2" HIF-1 responsive RTP801 DNA-damage-inducible transcript 4 2004-02-12 2015-11-16 2015-11-16 54541 ENSG00000168209 OTTHUMG00000183961 uc001jsx.2 AK000507 NM_019058 CCDS7315 Q9NX09 11884613 MGI:1921997 RGD:621731 607729 HGNC:24944 "ENST00000307365.4|NM_019058.4" +HGNC:52379 DDIT4-AS1 DDIT4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.1 10q22.1 RP11-442H21.2 Antisense RNAs 1987 2017-06-19 2017-06-19 110806271 ENSG00000269926 OTTHUMG00000018435 28611953 +HGNC:30555 DDIT4L DNA damage inducible transcript 4 like protein-coding gene gene with protein product Approved 4q24 04q24 "REDD2|Rtp801L" "regulated in development and DNA damage response 2|similar to Smhs1 protein" DNA-damage-inducible transcript 4-like 2004-02-12 2015-11-16 2022-03-08 115265 ENSG00000145358 OTTHUMG00000161019 uc003hvq.4 BC013592 NM_145244 CCDS34036 Q96D03 28246202 MGI:1920534 RGD:2322961 607730 HGNC:30555 "ENST00000273990.6|NM_145244.4" +HGNC:55562 DDIT4L-AS1 DDIT4L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Antisense RNAs 1987 2021-04-14 2021-04-14 101929353 ENSG00000249710 NR_125924 +HGNC:24458 DDN dendrin protein-coding gene gene with protein product Approved 12q13.12 12q13.12 KIAA0749 2004-11-26 2016-10-05 23109 ENSG00000181418 OTTHUMG00000156183 uc001rsv.2 AB018292 NM_015086 CCDS31791 O94850 MGI:108101 RGD:2497 610588 HGNC:24458 "ENST00000421952.3|NM_015086.2" +HGNC:53464 DDN-AS1 DDN and PRKAG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 CAT1507 Antisense RNAs 1987 2017-04-27 2017-04-27 2017-04-27 105369758 ENSG00000257913 OTTHUMG00000170405 NR_147178 28415801 HGNC:53464 +HGNC:2727 DDO D-aspartate oxidase protein-coding gene gene with protein product Approved 6q21 06q21 1998-10-19 2016-10-05 8528 ENSG00000203797 OTTHUMG00000015360 uc003puc.4 D89858 NM_001368170 "CCDS5082|CCDS5083" Q99489 9163533 MGI:1925528 RGD:1595123 124450 1.4.3.1 HGNC:2727 "ENST00000368924.9|NM_001372108.2" +HGNC:2728 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "OST|KIAA0115|OST48|WBP1" "oligosaccharyltransferase subunit 48|advanced glycation end-product receptor 1" dolichyl-diphosphooligosaccharide-protein glycosyltransferase Oligosaccharyltransferase complex subunits 445 1997-12-23 2016-03-01 2021-05-26 1650 ENSG00000244038 OTTHUMG00000002844 uc001bdo.1 D29643 NM_005216 CCDS212 P39656 9367678 MGI:1194508 RGD:1308970 602202 303832 HGNC:2728 "ENST00000602624.7|NM_005216.5" HGNC:2728 +HGNC:2730 DDR1 discoidin domain receptor tyrosine kinase 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "RTK6|CD167" "NTRK4|PTK3A|NEP|CAK|EDDR1" discoidin domain receptor family, member 1 "Receptor tyrosine kinases|CD molecules|MicroRNA protein coding host genes" "321|471|1691" 1994-08-29 2008-01-23 2015-09-11 780 ENSG00000204580 OTTHUMG00000031236 uc011faa.3 X99031 NM_013994 "CCDS75419|CCDS34385|CCDS4690|CCDS47396" Q08345 7789998 MGI:99216 RGD:2252 600408 objectId:1843 CD167 2.7.10.1 HGNC:2730 "ENST00000376568.8|NM_001297654.2" +HGNC:28694 DDR1-DT DDR1 divergent transcript non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 "bPG70P20.2|bCX111D4.7|bQB10J12.1" "TIGD1L|DDR1-AS1" "tigger transposable element derived 1-like|DDR1 antisense RNA 1 (non-protein coding)|DDR1 antisense RNA 1|DDR1 antisense RNA 1 (head to head)" Divergent transcripts 1990 2004-06-15 2018-03-22 2018-03-22 2018-03-22 414771 ENSG00000237775 OTTHUMG00000031229 uc063yph.1 AL137624 DDR1-AS1 +HGNC:2731 DDR2 discoidin domain receptor tyrosine kinase 2 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 TKT "TYRO10|NTRKR3" discoidin domain receptor family, member 2 Receptor tyrosine kinases 321 1999-06-17 2008-01-23 2021-05-26 4921 ENSG00000162733 OTTHUMG00000034423 uc001gch.2 AK095975 NM_006182 CCDS1241 Q16832 9659899 MGI:1345277 RGD:619855 LRG_1390|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1390.xml DDR2 191311 173530 objectId:1844 2.7.10.1 HGNC:2731 "ENST00000367921.8|NM_006182.4" HGNC:2731 +HGNC:16110 DDRGK1 DDRGK domain containing 1 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ1187M17.3|UFBP1" Dashurin C20orf116 chromosome 20 open reading frame 116 2001-07-17 2008-10-03 2008-10-03 2016-09-30 65992 ENSG00000198171 OTTHUMG00000031732 uc002wic.4 AL121891 NM_023935 CCDS13050 Q96HY6 "20036718|20228063|21494687" MGI:1924256 RGD:1309979 616177 HGNC:16110 "ENST00000354488.8|NM_023935.3" HGNC:16110 +HGNC:2732 DDT D-dopachrome tautomerase protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "DDCT|MIF2|MIF-2|D-DT" D-dopachrome decarboxylase 1998-03-06 2020-11-17 1652 ENSG00000099977 OTTHUMG00000150798 uc062cih.1 U49785 NM_001355 CCDS13820 P30046 "9480844|9729470|22507380|29184004" MGI:1298381 RGD:61923 602750 4.1.1.84 HGNC:2732 "ENST00000398344.9|NM_001084392.3" +HGNC:33446 DDTL D-dopachrome tautomerase like protein-coding gene gene with protein product Approved 22q11.23 22q11.23 D-dopachrome decarboxylase-like protein 2007-06-19 2017-02-21 2017-02-21 100037417 ENSG00000099974 OTTHUMG00000150800 uc002zyy.5 CR606018 NM_001084393 CCDS42988 A6NHG4 "9729470|10591208" MGI:1298381 HGNC:33446 "ENST00000215770.6|NM_001084393.2" +HGNC:44546 DDTP1 D-dopachrome tautomerase pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 2012-11-15 2012-11-15 101060160 ENSG00000230683 OTTHUMG00000156076 NG_052642 PGOHUM00000237591 HGNC:44546 +HGNC:2734 DDX1 DEAD-box helicase 1 protein-coding gene gene with protein product Approved 2p24.3 02p24.3 DBP-RB "DEAD-box RNA helicase DDX1|DEAD-box protein retinoblastoma" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 1|DEAD (Asp-Glu-Ala-Asp) box helicase 1" "DEAD-box helicases|tRNA splicing ligase complex" "499|1345" 1993-07-06 2016-09-27 2021-09-06 1653 ENSG00000079785 OTTHUMG00000090593 uc061guy.1 X70649 NM_004939 CCDS1686 Q92499 "1552844|19058135" MGI:2144727 RGD:619903 601257 470178 3.6.4.13 HGNC:2734 "ENST00000233084.8|NM_004939.3" +HGNC:55358 DDX3ILA1 DDX3 interacting lncRNA 1 non-coding RNA RNA, long non-coding Approved 7q21.11 07q21.11 TCONS_00012883 Long non-coding RNAs with non-systematic symbols 1992 2020-11-23 2020-11-23 105375368 ENSG00000232756 XR_927700 33135346 +HGNC:42171 DDX3P1 DEAD-box helicase 3 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 DDX3YP1 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, pseudogene 1" 2011-06-06 2014-10-23 2016-01-07 2016-01-07 100133180 ENSG00000232928 OTTHUMG00000021845 NG_022674 PGOHUM00000305152 HGNC:42171 +HGNC:42172 DDX3P2 DEAD-box helicase 3 pseudogene 2 pseudogene pseudogene Approved Xq13.2 Xq13.2 DDX3YP2 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 2|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, pseudogene 2" 2011-06-06 2014-10-23 2016-01-07 2016-01-07 100874489 ENSG00000230986 OTTHUMG00000040019 NG_032456 PGOHUM00000261804 HGNC:42172 +HGNC:42173 DDX3P3 DEAD-box helicase 3 pseudogene 3 pseudogene pseudogene Approved 4q24 04q24 DDX3YP3 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked pseudogene 3|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, pseudogene 3" 2011-06-06 2014-10-23 2016-01-07 2016-01-07 650560 ENSG00000251571 OTTHUMG00000160979 NG_028846 PGOHUM00000246016 HGNC:42173 +HGNC:2745 DDX3X DEAD-box helicase 3 X-linked protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "DBX|HLP2|DDX14|CAP-Rf" Helicase-like protein 2 DDX3 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked|DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked" DEAD-box helicases 499 1998-04-29 2003-06-20 2018-04-26 2022-01-26 1654 ENSG00000215301 OTTHUMG00000021369 uc033eaf.2 U50553 NM_001356 "CCDS87736|CCDS55404|CCDS43931|CCDS87734" O00571 "9381176|9730595" MGI:103064 RGD:1564771 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DDX3X DDX3X 300160 358713 3.6.4.13 HGNC:2745 "ENST00000644876.2|NM_001356.5" HGNC:2745 +HGNC:2699 DDX3Y DEAD-box helicase 3 Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 DBY "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome|DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked|DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked" "DEAD-box helicases|Minor histocompatibility antigens" "499|870" 1999-05-17 2003-06-20 2018-04-26 2018-04-26 8653 ENSG00000067048 OTTHUMG00000036324 uc004fsv.3 AF000984 NM_004660 CCDS14782 O15523 9381176 MGI:1349406 400010 167883 HGNC:2699 "ENST00000336079.8|NM_004660.5" +HGNC:18700 DDX4 DEAD-box helicase 4 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 VASA "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4|DEAD (Asp-Glu-Ala-Asp) box polypeptide 4" DEAD-box helicases 499 2002-05-30 2016-01-07 2016-10-05 54514 ENSG00000152670 OTTHUMG00000097044 uc003jqg.5 AF262962 NM_024415 "CCDS54855|CCDS3969|CCDS47208|CCDS54854" Q9NQI0 "10920202|11850529" MGI:102670 RGD:1308793 605281 HGNC:18700 "ENST00000505374.6|NM_024415.3" +HGNC:2746 DDX5 DEAD-box helicase 5 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 p68 "HLR1|G17P1" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 5|DEAD (Asp-Glu-Ala-Asp) box helicase 5" "DEAD-box helicases|MicroRNA protein coding host genes" "499|1691" 1989-06-30 2016-01-07 2016-10-05 1655 ENSG00000108654 OTTHUMG00000178936 uc002jek.3 AF015812 NM_004396 "CCDS82190|CCDS11659" P17844 "22156369|18698352" MGI:105037 RGD:619906 DDX5 180630 HGNC:2746 "ENST00000225792.10|NM_004396.5" +HGNC:2747 DDX6 DEAD-box helicase 6 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "RCK|Rck/p54" HLR2 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 6|DEAD (Asp-Glu-Ala-Asp) box helicase 6" DEAD-box helicases 499 1992-09-14 2016-01-07 2021-12-02 1656 ENSG00000110367 OTTHUMG00000166411 uc031ygs.2 D17532 NM_004397 CCDS44751 P26196 "1579499|11839790" MGI:104976 RGD:1564560 DDX6 600326 HGNC:2747 "ENST00000534980.7|NM_004397.6" HGNC:2747 +HGNC:13948 DDX6P1 DEAD-box helicase 6 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "DDX6-Lp|bA150A6.3" DDX6P "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 pseudogene|DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 pseudogene|DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 pseudogene 1|DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene 1" 2003-11-26 2010-02-25 2016-01-07 2020-04-20 442192 ENSG00000230056 OTTHUMG00000031293 NG_021115 PGOHUM00000243117 HGNC:13948 +HGNC:37806 DDX6P2 DEAD-box helicase 6 pseudogene 2 pseudogene pseudogene Approved 13q31.1 13q31.1 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 pseudogene 2|DEAD (Asp-Glu-Ala-Asp) box helicase 6 pseudogene 2" 2010-02-25 2016-01-07 2016-01-07 100130117 ENSG00000277914 OTTHUMG00000017160 NG_022972 PGOHUM00000292214 HGNC:37806 +HGNC:2735 DDX10 DEAD-box helicase 10 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "HRH-J8|Dbp4" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 10" "DEAD-box helicases|SSU processome" "499|1484" 1995-12-11 2016-01-07 2017-05-26 1662 ENSG00000178105 OTTHUMG00000166540 uc001pkm.4 U28042 NM_004398 CCDS8342 Q13206 8660968 MGI:1924841 RGD:1308990 DDX10 601235 HGNC:2735 "ENST00000322536.8|NM_004398.4" +HGNC:44960 DDX10P1 DEAD-box helicase 10 pseudogene 1 pseudogene pseudogene Approved 10p11.23 10p11.23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 pseudogene 1 2012-12-20 2016-01-07 2016-01-07 100421371 ENSG00000237135 OTTHUMG00000017903 NG_025423 PGOHUM00000262839 HGNC:44960 +HGNC:44961 DDX10P2 DEAD-box helicase 10 pseudogene 2 pseudogene pseudogene Approved 9q21.32 09q21.32 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 pseudogene 2 2012-12-20 2016-01-07 2016-01-07 401533 ENSG00000230360 OTTHUMG00000020092 NG_021626 PGOHUM00000258384 HGNC:44961 +HGNC:2736 DDX11 DEAD/H-box helicase 11 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "ChlR1|KRG-2|CHL1|WABS" "CHL1-like helicase homolog (S. cerevisiae)|Keratinocyte growth factor-regulated gene 2|Warsaw Breakage Syndrome" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11" "DEAD-box helicases|DNA helicases" "499|1167" 1995-12-11 2016-01-07 2021-10-07 1663 ENSG00000013573 OTTHUMG00000168435 uc001rjr.2 U75969 NM_030653 "CCDS8721|CCDS41767|CCDS58224|CCDS44856" Q96FC9 "20137776|10648783" MGI:2443590 RGD:1306675 601150 280563 HGNC:2736 "ENST00000542838.6|NM_030653.4" HGNC:2736 +HGNC:44176 DDX11-AS1 DDX11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 "CONCR|SCAT4" "cohesion regulator noncoding RNA|S-phase cancer-associated transcript 4" DDX11 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2018-08-03 100506660 ENSG00000245614 OTTHUMG00000168487 uc001rjq.2 AK096360 NR_038927 "27477908|29491376" DDX11-AS1 HGNC:44176 +HGNC:37102 DDX11L1 DEAD/H-box helicase 11 like 1 (pseudogene) pseudogene pseudogene Approved 1p36.33 01p36.33 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1|DEAD/H-box helicase 11 like 1" 2010-02-03 2020-02-17 2020-04-20 100287102 ENSG00000223972 OTTHUMG00000000961 AM992871 NR_046018 19476624 HGNC:37102 +HGNC:37103 DDX11L2 DEAD/H-box helicase 11 like 2 (pseudogene) pseudogene pseudogene Approved 2q14.1 02q14.1 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 2|DEAD/H-box helicase 11 like 2" 2010-04-08 2020-02-17 2020-02-17 84771 ENSG00000236397 OTTHUMG00000047823 AM992870 NR_024004 19476624 PGOHUM00000306022 HGNC:37103 +HGNC:37104 DDX11L3 DEAD/H-box helicase 11 like 3 (pseudogene) pseudogene pseudogene Approved 3q29 03q29 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 3|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 3|DEAD/H-box helicase 11 like 3" 2010-02-03 2020-02-17 2020-02-17 100302657 AM992865 NG_023050 19476624 +HGNC:37105 DDX11L4 DEAD/H-box helicase 11 like 4 (pseudogene) pseudogene pseudogene Approved 6p25.3 06p25.3 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 4|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 4|DEAD/H-box helicase 11 like 4" 2010-02-03 2020-02-17 2020-04-20 100337622 AM992866 NG_016472 19476624 +HGNC:37106 DDX11L5 DEAD/H-box helicase 11 like 5 (pseudogene) pseudogene pseudogene Approved 9p24.3 09p24.3 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 5|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 5|DEAD/H-box helicase 11 like 5" 2010-04-08 2020-02-17 2020-02-17 100287596 ENSG00000236875 OTTHUMG00000019419 AM992874 NG_017126 19476624 PGOHUM00000306158 HGNC:37106 +HGNC:37107 DDX11L6 DEAD/H-box helicase 11 like 6 (pseudogene) pseudogene pseudogene Approved 9q34.3 09q34.3 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 6|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 6|DEAD/H-box helicase 11 like 6" 2010-04-08 2020-02-17 2020-02-17 19476624 +HGNC:37108 DDX11L7 DEAD/H-box helicase 11 like 7 (pseudogene) pseudogene pseudogene Approved 11p15.5 11p15.5 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 7|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 7|DEAD/H-box helicase 11 like 7" 2010-04-08 2020-02-17 2020-02-17 19476624 +HGNC:37101 DDX11L8 DEAD/H-box helicase 11 like 8 (pseudogene) pseudogene pseudogene Approved 12p13.33 12p13.33 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 8|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 8|DEAD/H-box helicase 11 like 8" 2009-06-19 2020-02-17 2020-04-20 100302090 ENSG00000256263 OTTHUMG00000168013 NG_029416 A8MPP1 19476624 MGI:2443590 PGOHUM00000305882 HGNC:37101 +HGNC:37109 DDX11L9 DEAD/H-box helicase 11 like 9 (pseudogene) pseudogene pseudogene Approved 15q26.3 15q26.3 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 9|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9|DEAD/H-box helicase 11 like 9" 2010-02-03 2020-02-17 2020-04-20 100288486 ENSG00000248472 OTTHUMG00000172276 AM992880 NR_034090 19476624 PGOHUM00000305906 HGNC:37109 +HGNC:14125 DDX11L10 DEAD/H-box helicase 11 like 10 (pseudogene) pseudogene pseudogene Approved 16p13.3 16p13.3 "DDX11P|DDX11L1" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 pseudogene|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 10|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 10|DEAD/H-box helicase 11 like 10" 2000-12-21 2009-06-19 2020-02-17 2020-04-20 100287029 ENSG00000233614 OTTHUMG00000086927 AM992876 NR_045117 19476624 PGOHUM00000305917 HGNC:14125 +HGNC:37110 DDX11L11 DEAD/H-box helicase 11 like 11 (pseudogene) pseudogene pseudogene Approved 17p13.3 17p13.3 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 11|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 11|DEAD/H-box helicase 11 like 11" 2010-02-03 2020-02-17 2020-02-17 100887824 AM992877 19476624 +HGNC:37112 DDX11L13 DEAD/H-box helicase 11 like 13 (pseudogene) pseudogene pseudogene Approved 20p13 20p13 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 13|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 13|DEAD/H-box helicase 11 like 13" 2010-04-08 2020-02-17 2020-02-17 19476624 +HGNC:37114 DDX11L15 DEAD/H-box helicase 11 like 15 (pseudogene) pseudogene pseudogene Approved Xp11.32 Xp11.32 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 15|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 15|DEAD/H-box helicase 11 like 15" 2010-04-08 2020-02-17 2020-02-17 19476624 +HGNC:37115 DDX11L16 DEAD/H-box helicase 11 like 16 (pseudogene) pseudogene pseudogene Approved Xq28 and Yq12 Xq28 and Yq12 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 16|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 16|DEAD/H-box helicase 11 like 16" Pseudoautosomal region 2 716 2010-02-03 2020-02-17 2020-02-17 727856 ENSG00000227159 OTTHUMG00000022678 AM992882 NG_006978.2 19476624 HGNC:37115 +HGNC:55080 DDX11L17 DEAD/H-box helicase 11 like 17 (pseudogene) pseudogene pseudogene Approved 1p36.33 01p36.33 2020-06-17 2020-06-17 102725121 ENSG00000279928 NR_148357 PGOHUM00000296170 +HGNC:2737 DDX12P DEAD/H-box helicase 12, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 CHLR2 CHL1-like helicase homolog 2 (S. cerevisiae) DDX12 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 (S.cerevisiae CHL1-like helicase)|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene" DEAD-box helicases 499 1995-12-11 2011-09-01 2016-01-07 2018-08-03 440081 ENSG00000214826 OTTHUMG00000168579 U33834 XM_495908 Q92771 MGI:2443590 601151 HGNC:2737 +HGNC:2740 DDX17 DEAD-box helicase 17 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 P72 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 17|DEAD (Asp-Glu-Ala-Asp) box helicase 17" DEAD-box helicases 499 1999-08-20 2016-01-07 2016-01-07 10521 ENSG00000100201 OTTHUMG00000151136 uc062efu.1 U59321 NM_030881 "CCDS33646|CCDS46706" Q92841 "8871553|17226766" MGI:1914290 RGD:1304945 608469 HGNC:2740 "ENST00000403230.3|NM_006386.5" +HGNC:2741 DDX18 DEAD-box helicase 18 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "MrDb|Has1" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 18" "DEAD-box helicases|SSU processome" "499|1484" 1999-09-28 2016-01-07 2017-05-26 8886 ENSG00000088205 OTTHUMG00000058521 uc002tlh.2 X98743 NM_006773 CCDS2120 Q9NVP1 8861962 MGI:1914192 RGD:1549712 606355 HGNC:2741 "ENST00000263239.7|NM_006773.4" +HGNC:20007 DDX18P1 DEAD-box helicase 18 pseudogene 1 pseudogene pseudogene Approved 14q24.1 14q24.1 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 pseudogene 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 1" 2003-01-13 2016-01-07 2017-10-25 319099 ENSG00000259165 OTTHUMG00000171761 NG_002480 PGOHUM00000292714 HGNC:20007 +HGNC:21432 DDX18P2 DEAD-box helicase 18 pseudogene 2 pseudogene pseudogene Approved 15q22.2 15q22.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 2 2008-01-28 2016-01-07 2016-01-07 651053 NG_007648 HGNC:21432 +HGNC:33966 DDX18P3 DEAD-box helicase 18 pseudogene 3 pseudogene pseudogene Approved 6p22.3 06p22.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 3 2008-01-28 2016-01-07 2016-10-05 442164 ENSG00000217414 OTTHUMG00000014321 XR_016929 PGOHUM00000301260 HGNC:33966 +HGNC:33967 DDX18P4 DEAD-box helicase 18 pseudogene 4 pseudogene pseudogene Approved 5q15 05q15 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 4 2008-01-28 2016-01-07 2016-10-05 402222 ENSG00000251553 OTTHUMG00000162746 XR_016297 PGOHUM00000301069 HGNC:33967 +HGNC:33968 DDX18P5 DEAD-box helicase 18 pseudogene 5 pseudogene pseudogene Approved 11q24.3 11q24.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 5 2008-01-28 2016-01-07 2016-10-05 646378 ENSG00000255220 OTTHUMG00000165771 XR_017110 PGOHUM00000291174 HGNC:33968 +HGNC:31126 DDX18P6 DEAD-box helicase 18 pseudogene 6 pseudogene pseudogene Approved 10q23.31 10q23.31 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 6 2008-01-28 2016-01-07 2016-01-07 100131370 ENSG00000220585 OTTHUMG00000018735 NG_008704 PGOHUM00000238886 HGNC:31126 +HGNC:25628 DDX19A DEAD-box helicase 19A protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ11126 DDX19L "DEAD (Asp-Glu-Ala-As) box polypeptide 19-like|DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A" DEAD-box helicases 499 2004-11-03 2005-07-13 2016-01-07 2019-02-19 55308 ENSG00000168872 OTTHUMG00000137579 uc002eyv.4 AF183422 NM_018332 "CCDS10889|CCDS82009" Q9NUU7 26538395 MGI:99526 RGD:1303136 HGNC:25628 "ENST00000302243.12|NM_018332.5" +HGNC:55349 DDX19A-DT DDX19A divergent transcript non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 Divergent transcripts 1990 2020-11-04 2020-11-04 100506083 ENSG00000261777 NR_039997 +HGNC:2742 DDX19B DEAD-box helicase 19B protein-coding gene gene with protein product Approved 16q22.1 16q22.1 DBP5 DDX19 "DEAD (Asp-Glu-Ala-As) box polypeptide 19|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)|DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B" DEAD-box helicases 499 1999-12-07 2005-07-13 2016-01-07 2016-10-05 11269 ENSG00000157349 OTTHUMG00000137577 uc002eyo.5 AJ237946 NM_007242 "CCDS58478|CCDS42187|CCDS10888|CCDS32475|CCDS86540" Q9UMR2 10428971 MGI:2148251 RGD:1593382 605812 HGNC:2742 "ENST00000288071.11|NM_007242.7" +HGNC:2743 DDX20 DEAD-box helicase 20 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "DP103|GEMIN3" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD|DEAD (Asp-Glu-Ala-Asp) box polypeptide 20" "DEAD-box helicases|Gemins" "499|1131" 1999-12-14 2016-01-07 2016-10-05 11218 ENSG00000064703 OTTHUMG00000011956 uc001ebs.4 AF106019 NM_007204 CCDS842 Q9UHI6 10383418 MGI:1858415 RGD:621744 606168 HGNC:2743 "ENST00000369702.5|NM_007204.5" +HGNC:44673 DDX20P1 DEAD-box helicase 20 pseudogene 1 pseudogene pseudogene Approved 10p15.3 10p15.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 pseudogene 1 2012-12-03 2016-01-07 2016-01-07 100421369 NG_025412 PGOHUM00000238330 HGNC:44673 +HGNC:2744 DDX21 DExD-box helicase 21 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "RH-II/GU|GURDB" nucleolar RNA helicase 2 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21|DEAD-box helicase 21" "DEAD-box helicases|B-WICH chromatin-remodelling complex subunits" "499|1787" 1999-12-15 2016-09-27 2020-03-10 9188 ENSG00000165732 OTTHUMG00000018366 uc001jov.3 U41387 NM_004728 "CCDS73144|CCDS31211" Q9NR30 "8614622|18180292" MGI:1860494 RGD:1307306 606357 HGNC:2744 "ENST00000354185.9|NM_004728.4" +HGNC:17347 DDX23 DEAD-box helicase 23 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "prp28|U5-100KD|PRPF28|SNRNP100" U5 snRNP-specific 100-kD protein "PRP28 homolog, yeast|DEAD (Asp-Glu-Ala-Asp) box polypeptide 23" "DEAD-box helicases|U5 small nuclear ribonucleoprotein" "499|1503" 2003-06-13 2016-01-07 2021-09-06 9416 ENSG00000174243 OTTHUMG00000170399 uc001rsm.4 AF026402 NM_004818 CCDS8770 Q9BUQ8 "9409622|9539711|34050707" MGI:1921601 RGD:1308685 612172 HGNC:17347 "ENST00000308025.8|NM_004818.3" +HGNC:13266 DDX24 DEAD-box helicase 24 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24|DEAD (Asp-Glu-Ala-Asp) box polypeptide 24|DEAD (Asp-Glu-Ala-Asp) box helicase 24" DEAD-box helicases 499 2000-09-19 2016-01-07 2016-10-05 57062 ENSG00000089737 OTTHUMG00000171301 uc001ycj.4 AF214731 NM_020414 CCDS9918 Q9GZR7 "10936056|18289627" MGI:1351337 RGD:727929 606181 HGNC:13266 "ENST00000621632.5|NM_020414.4" +HGNC:18698 DDX25 DEAD-box helicase 25 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 GRTH gonadotropin-regulated testicular RNA helicase "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25|DEAD (Asp-Glu-Ala-Asp) box polypeptide 25|DEAD (Asp-Glu-Ala-Asp) box helicase 25" DEAD-box helicases 499 2002-05-30 2016-01-07 2016-10-05 29118 ENSG00000109832 OTTHUMG00000165859 uc001qcz.6 AF155140 NM_013264 "CCDS81646|CCDS44766" Q9UHL0 "10608860|15096601" MGI:1353582 RGD:68381 607663 HGNC:18698 "ENST00000263576.11|NM_013264.5" HGNC:18698 +HGNC:15837 DDX27 DEAD-box helicase 27 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "dJ686N3.1|DRS1" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27|DEAD (Asp-Glu-Ala-Asp) box polypeptide 27" DEAD-box helicases 499 2001-09-17 2016-01-07 2016-01-07 55661 ENSG00000124228 OTTHUMG00000033072 uc002xuh.4 AL049766 NM_001348187 CCDS13416 Q96GQ7 MGI:2385884 RGD:1305634 616621 HGNC:15837 "ENST00000618172.5|NM_017895.8" +HGNC:17330 DDX28 DEAD-box helicase 28 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "MDDX28|FLJ11282" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28|DEAD (Asp-Glu-Ala-Asp) box polypeptide 28" DEAD-box helicases 499 2001-12-07 2016-01-07 2016-10-05 55794 ENSG00000182810 OTTHUMG00000137549 uc002evh.3 AF329821 NM_018380 CCDS10858 Q9NUL7 "10493829|11350955" MGI:1919236 RGD:1311976 607618 HGNC:17330 "ENST00000332395.7|NM_018380.4" +HGNC:16715 DDX31 DEAD-box helicase 31 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "FLJ13633|FLJ23349|FLJ14578|PPP1R25" protein phosphatase 1, regulatory subunit 25 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31|DEAD (Asp-Glu-Ala-Asp) box polypeptide 31" "DEAD-box helicases|Protein phosphatase 1 regulatory subunits" "499|694" 2001-11-27 2016-01-07 2016-10-05 64794 ENSG00000125485 OTTHUMG00000020843 uc064wsi.1 AF427339 NM_138620 "CCDS83433|CCDS6952" Q9H8H2 MGI:2682639 RGD:1304895 616533 HGNC:16715 "ENST00000372159.8|NM_022779.9" +HGNC:17821 DDX39A DExD-box helicase 39A protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "DDXL|BAT1L|URH49" UAP56-related helicase, 49 kDa DDX39 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39|DEAD-box helicase 39A" "DEAD-box helicases|Transcription and export complex 1 subunits" "499|1348" 2002-04-19 2011-02-08 2016-09-27 2016-09-27 10212 ENSG00000123136 OTTHUMG00000182181 uc002myo.4 U90426 NM_138998 CCDS12308 O00148 7601445 MGI:1915528 RGD:619920 HGNC:17821 "ENST00000242776.9|NM_005804.4" +HGNC:39664 DDX39AP1 DEAD-box helicase 39A pseudogene 1 pseudogene pseudogene Approved 13q12.12 13q12.12 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A pseudogene 1 2011-03-18 2016-01-07 2016-10-05 646164 ENSG00000225777 OTTHUMG00000016550 NG_011331 HGNC:39664 +HGNC:13917 DDX39B DExD-box helicase 39B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "D6S81E|UAP56" U2AF65-associated protein 56 BAT1 "HLA-B associated transcript 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B|DEAD-box helicase 39B" "DEAD-box helicases|Transcription and export complex 1 subunits|Spliceosomal E complex|Small nucleolar RNA protein coding host genes" "499|1348|1522|1835" 2001-07-13 2011-02-08 2016-09-27 2016-09-27 7919 ENSG00000198563 OTTHUMG00000031165 uc003ntu.4 Z37166 NM_004640 CCDS4697 Q13838 "7601445|2813433" MGI:99240 RGD:70923 142560 HGNC:13917 "ENST00000396172.6|NM_004640.7" +HGNC:39771 DDX39B-AS1 DDX39B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 DDX39B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-21 2012-08-15 2021-07-05 106478957 ENSG00000234006 OTTHUMG00000134293 uc063zxg.1 NR_133674 DDX39B-AS1 HGNC:39771 +HGNC:33450 DDX39BP1 DEAD-box helicase 39B pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 BAT1P1 "HLA-B associated transcript 1 pseudogene 1|DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B pseudogene 1" 2007-05-01 2011-02-08 2016-01-07 2016-10-05 100048904 ENSG00000233677 OTTHUMG00000130504 NG_028140 HGNC:33450 +HGNC:33461 DDX39BP2 DEAD-box helicase 39B pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 BPG309N1.15 BAT1P2 "HLA-B associated transcript 1 pseudogene 2|DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B pseudogene 2" 2007-05-02 2011-02-08 2016-01-07 2016-10-05 100048923 ENSG00000238024 OTTHUMG00000130507 NG_028139 HGNC:33461 +HGNC:18674 DDX41 DEAD-box helicase 41 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "ABS|MGC8828" Abstrakt DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 "DEAD-box helicases|Spliceosomal C complex|Spliceosomal P complex" "499|1510|1516" 2003-06-13 2016-01-07 2021-09-06 51428 ENSG00000183258 OTTHUMG00000130858 uc003mho.4 AF195417 NM_016222 CCDS4427 Q9UJV9 10607561 MGI:1920185 RGD:1311758 LRG_1386|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1386.xml 608170 470180 HGNC:18674 "ENST00000330503.12|NM_016222.4" HGNC:18674 +HGNC:18676 DDX42 DEAD-box helicase 42 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "RNAHP|RHELP|SF3b125|SF3B8" splicing factor 3b, subunit 8 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 42|DEAD (Asp-Glu-Ala-Asp) box helicase 42" DEAD-box helicases 499 2003-06-13 2016-01-07 2016-10-05 11325 ENSG00000198231 OTTHUMG00000179011 uc002jbu.5 BC015505 NM_007372 CCDS32704 Q86XP3 "10727850|16397294" MGI:1919297 RGD:1304909 613369 HGNC:18676 "ENST00000389924.7|NM_203499.3" +HGNC:18677 DDX43 DEAD-box helicase 43 protein-coding gene gene with protein product Approved 6q13 06q13 "HAGE|DKFZp434H2114|CT13" cancer/testis antigen 13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 DEAD-box helicases 499 2003-06-13 2016-01-07 2016-01-07 55510 ENSG00000080007 OTTHUMG00000015033 uc003pgw.4 NM_018665 CCDS4977 Q9NXZ2 10919659 MGI:3642857 RGD:1586947 606286 HGNC:18677 "ENST00000370336.5|NM_018665.3" +HGNC:50780 DDX43P1 DEAD-box helicase 43 pseudogene 1 pseudogene pseudogene Approved 5q23.1 05q23.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 pseudogene 1 2014-06-18 2016-01-07 2016-01-07 100421307 ENSG00000248295 OTTHUMG00000162907 NG_024622 PGOHUM00000235363 HGNC:50780 +HGNC:50781 DDX43P2 DEAD-box helicase 43 pseudogene 2 pseudogene pseudogene Approved 7p12.2 07p12.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 pseudogene 2 2014-06-18 2016-01-07 2016-01-07 100533714 ENSG00000270763 OTTHUMG00000184669 NG_028665 PGOHUM00000232685 HGNC:50781 +HGNC:50782 DDX43P3 DEAD-box helicase 43 pseudogene 3 pseudogene pseudogene Approved 7q21.11 07q21.11 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 pseudogene 3 2014-06-18 2016-01-07 2016-01-07 106481709 ENSG00000230196 OTTHUMG00000155404 NG_045386 PGOHUM00000232903 HGNC:50782 +HGNC:18681 DDX46 DEAD-box helicase 46 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0801|FLJ25329|PRPF5|Prp5" DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 "DEAD-box helicases|Spliceosomal A complex" "499|1504" 2003-06-13 2016-01-07 2016-01-07 9879 ENSG00000145833 OTTHUMG00000163072 uc003kzw.5 NM_014829 "CCDS34240|CCDS75306" Q7L014 MGI:1920895 RGD:708480 617848 HGNC:18681 "ENST00000452510.7|NM_001300860.2" +HGNC:18682 DDX47 DEAD-box helicase 47 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "DKFZp564O176|FLJ30012|HQ0256|RRP3" DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 "DEAD-box helicases|SSU processome" "499|1484" 2003-06-13 2016-01-07 2016-10-05 51202 ENSG00000213782 OTTHUMG00000168709 uc001rax.4 AK127712 NM_016355 "CCDS8656|CCDS8655" Q9H0S4 MGI:1915005 RGD:1310437 615428 HGNC:18682 "ENST00000358007.7|NM_016355.4" +HGNC:18684 DDX49 DEAD-box helicase 49 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ10432|Dbp8" DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 "DEAD-box helicases|SSU processome" "499|1484" 2003-06-13 2016-01-07 2017-05-26 54555 ENSG00000105671 OTTHUMG00000182994 uc002nkq.3 NM_019070 CCDS12390 Q9Y6V7 MGI:2136689 RGD:1311124 HGNC:18684 "ENST00000247003.9|NM_019070.5" +HGNC:17906 DDX50 DExD-box helicase 50 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "GU2|MGC3199|GUB|RH-II/GuB" "DEAD (Asp-Glu-Ala-Asp) box polypeptide 50|DEAD-box helicase 50" DEAD-box helicases 499 2003-06-13 2016-09-27 2016-10-05 79009 ENSG00000107625 OTTHUMG00000018362 uc001jou.3 AF334103 NM_024045 CCDS7283 Q9BQ39 11891046 MGI:2182303 RGD:1310934 610373 HGNC:17906 "ENST00000373585.8|NM_024045.2" +HGNC:18974 DDX50P1 DEAD-box helicase 50 pseudogene 1 pseudogene pseudogene Approved 2p22.3 02p22.3 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 1 2008-01-31 2016-01-07 2016-01-07 192146 ENSG00000229816 OTTHUMG00000152105 NG_001065 11891046 PGOHUM00000240615 HGNC:18974 +HGNC:18975 DDX50P2 DEAD-box helicase 50 pseudogene 2 pseudogene pseudogene Approved 3q25.2 03q25.2 RH_II/GuBp2 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 2 2008-01-31 2016-01-07 2020-04-20 100421328 ENSG00000240048 OTTHUMG00000159130 NG_025643 11891046 PGOHUM00000237825 HGNC:18975 +HGNC:20082 DDX51 DEAD-box helicase 51 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 DEAD-box helicases 499 2003-06-13 2016-01-07 2019-08-20 317781 ENSG00000185163 OTTHUMG00000168254 uc001ujy.5 BC040185 NM_175066 CCDS41865 Q8N8A6 MGI:1916913 RGD:1309580 HGNC:20082 "ENST00000397333.4|NM_175066.4" +HGNC:20038 DDX52 DExD-box helicase 52 protein-coding gene gene with protein product Approved 17q12 17q12 ROK1 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 52|DEAD-box helicase 52" "DEAD-box helicases|SSU processome|MicroRNA protein coding host genes" "499|1484|1691" 2003-06-13 2016-09-27 2016-09-27 11056 ENSG00000278053 OTTHUMG00000188475 uc032gir.2 AF077033 NM_152300 CCDS11323 Q9Y2R4 11124703 MGI:1925644 RGD:621743 612500 HGNC:20038 "ENST00000617633.5|NM_007010.5" +HGNC:20083 DDX53 DEAD-box helicase 53 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "CAGE|CT26" "cancer associated gene|cancer/testis antigen 26" DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 DEAD-box helicases 499 2003-06-13 2016-01-07 2020-04-02 168400 ENSG00000184735 OTTHUMG00000021248 uc004daj.4 AY039237 NM_182699 CCDS35214 Q86TM3 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DDX53 HGNC:20083 "ENST00000327968.7|NM_182699.4" HGNC:20083 +HGNC:20084 DDX54 DEAD-box helicase 54 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "MGC2835|APR-5|DP97" "apoptosis related protein 5|DEAD box polypeptide, 97kD" DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 "DEAD-box helicases|MicroRNA protein coding host genes" "499|1691" 2003-06-13 2016-01-07 2021-09-10 79039 ENSG00000123064 OTTHUMG00000169676 uc001tup.4 AF144056 NM_024072 "CCDS44984|CCDS31907" Q8TDD1 12466272 MGI:1919240 RGD:1562539 611665 3.6.4.13 HGNC:20084 "ENST00000306014.10|NM_024072.4" +HGNC:20085 DDX55 DEAD-box helicase 55 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 KIAA1595 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 "DEAD-box helicases|Small nucleolar RNA protein coding host genes" "499|1835" 2003-06-13 2016-01-07 2016-01-07 57696 ENSG00000111364 OTTHUMG00000168695 uc001ufi.4 AB046815 NM_020936 CCDS9251 Q8NHQ9 10997877 MGI:1915098 RGD:2324094 HGNC:20085 "ENST00000238146.9|NM_020936.3" +HGNC:49852 DDX55P1 DEAD-box helicase 55 pseudogene 1 pseudogene pseudogene Approved 12p13.2 12p13.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 pseudogene 1 2014-03-18 2016-01-07 2016-11-09 100129640 ENSG00000270863 OTTHUMG00000184770 NG_021706 PGOHUM00000291553 HGNC:49852 +HGNC:18193 DDX56 DEAD-box helicase 56 protein-coding gene gene with protein product Approved 7p13 07p13 NOH61 nucleolar helicase of 61 kDa "DEAD (Asp-Glu-Ala-Asp) box polypeptide 56|DEAD (Asp-Glu-Ala-Asp) box helicase 56" DEAD-box helicases 499 2003-06-13 2016-01-07 2016-01-07 54606 ENSG00000136271 OTTHUMG00000129211 uc003tlg.5 AJ131712 NM_019082 "CCDS59053|CCDS5492" Q9NY93 10749921 MGI:1277172 RGD:1303195 608023 HGNC:18193 "ENST00000258772.10|NM_019082.4" +HGNC:19102 DDX58 DExD/H-box helicase 58 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "RIG-I|FLJ13599|DKFZp434J1111|RIG-1|RIG1" "RNA helicase RIG-I|retinoic acid inducible gene I" DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 "DEAD-box helicases|Caspase recruitment domain containing" "499|959" 2004-05-10 2016-09-27 2022-02-24 23586 ENSG00000107201 OTTHUMG00000019746 uc003zra.4 AF038963 NM_014314 CCDS6526 O95786 "21690088|34514601" MGI:2442858 RGD:1309460 609631 422901 objectId:2920 HGNC:19102 "ENST00000379883.3|NM_014314.4" HGNC:19102 +HGNC:25360 DDX59 DEAD-box helicase 59 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZP564B1023|ZNHIT5" zinc finger HIT-type containing 5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 "Zinc fingers HIT-type|DEAD-box helicases" "83|499" 2005-02-22 2016-01-07 2021-08-18 83479 ENSG00000118197 OTTHUMG00000035725 uc009wzk.4 BC041801 NM_001031725.4 CCDS30964 Q5T1V6 23972372 MGI:1915247 RGD:1359520 615464 376535 HGNC:25360 "ENST00000331314.11|NM_001031725.6" HGNC:25360 +HGNC:41094 DDX59-AS1 DDX59 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2019-05-03 2019-05-03 101929224 ENSG00000260088 OTTHUMG00000035741 NR_110787 HGNC:41094 +HGNC:25942 DDX60 DExD/H-box helicase 60 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 FLJ20035 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 Ski2 like RNA helicases 1559 2008-01-08 2016-09-27 2021-10-07 55601 ENSG00000137628 OTTHUMG00000161350 uc003irp.4 AK001649 NM_017631 CCDS34097 Q8IY21 21791617 MGI:2384570 613974 HGNC:25942 "ENST00000393743.8|NM_017631.6" +HGNC:26429 DDX60L DExD/H-box 60 like protein-coding gene gene with protein product Approved 4q32.3 04q32.3 FLJ31033 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like Ski2 like RNA helicases 1559 2008-01-08 2017-09-12 2021-10-07 91351 ENSG00000181381 OTTHUMG00000161412 uc003irq.5 AK092461 NM_001012967 CCDS47161 Q5H9U9 26269178 616725 HGNC:26429 "ENST00000682922.1|NM_001012967.3" +HGNC:14677 DEAF1 DEAF1 transcription factor protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "NUDR|SPN|ZMYND5" deformed epidermal autoregulatory factor 1 (Drosophila) Zinc fingers MYND-type 87 2001-02-27 2018-08-15 2018-08-15 10522 ENSG00000177030 OTTHUMG00000165363 uc001lqq.2 AF049460 NM_021008 CCDS31327 O75398 9773984 MGI:1858496 RGD:620671 602635 422989 HGNC:14677 "ENST00000382409.4|NM_021008.4" HGNC:14677 +HGNC:2753 DECR1 2,4-dienoyl-CoA reductase 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 SDR18C1 short chain dehydrogenase/reductase family 18C, member 1 DECR 2,4-dienoyl-CoA reductase 1, mitochondrial Short chain dehydrogenase/reductase superfamily 743 1997-07-22 2016-12-02 2016-12-02 1666 ENSG00000104325 OTTHUMG00000163829 uc003yek.2 L26050 NM_001330575 "CCDS6250|CCDS87618" Q16698 "7818482|19027726" MGI:1914710 RGD:70999 222745 470182 1.3.1.34 HGNC:2753 "ENST00000220764.7|NM_001359.2" HGNC:2753 +HGNC:2754 DECR2 2,4-dienoyl-CoA reductase 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "PDCR|SDR17C1" short chain dehydrogenase/reductase family 17C, member 1 2,4-dienoyl-CoA reductase 2, peroxisomal Short chain dehydrogenase/reductase superfamily 743 1999-11-15 2016-12-02 2016-12-02 26063 ENSG00000242612 OTTHUMG00000047846 uc002chb.4 AJ293009 NM_020664 CCDS10409 Q9NUI1 "11514237|19027726" MGI:1347059 RGD:71002 615839 1.3.1.34 HGNC:2754 "ENST00000219481.10|NM_020664.4" +HGNC:2755 DEDD death effector domain containing protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "DEFT|FLDED1|CASP8IP1|KE05|DEDD1" death effector domain-containing Death effector domain containing 1019 1999-12-10 2002-01-14 2016-10-05 9191 ENSG00000158796 OTTHUMG00000033104 uc001fyb.5 AF043733 NM_004216 "CCDS1219|CCDS81391" O75618 "9774341|9832420" MGI:1333874 RGD:620050 606841 HGNC:2755 "ENST00000368006.8|NM_032998.3" +HGNC:24450 DEDD2 death effector domain containing 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLAME-3 Death effector domain containing 1019 2004-02-10 2016-10-05 162989 ENSG00000160570 OTTHUMG00000182763 uc031rkz.2 AY125488 NM_133328 "CCDS59391|CCDS12597" Q8WXF8 "11965497|12235123" MGI:1914629 RGD:1588968 617078 HGNC:24450 "ENST00000596251.6|NM_133328.4" +HGNC:2760 DEF6 DEF6 guanine nucleotide exchange factor protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "IBP|SLAT|SWAP70L" SWAP-70-like adaptor protein of T cells "differentially expressed in FDCP (mouse homolog) 6|differentially expressed in FDCP 6 homolog (mouse)" Pleckstrin homology domain containing 682 2000-03-29 2019-01-21 2019-01-21 50619 ENSG00000023892 OTTHUMG00000014563 uc003okk.4 AJ276095 NM_022047 CCDS4802 Q9H4E7 19251698 MGI:1346328 RGD:1307945 610094 HGNC:2760 "ENST00000316637.7|NM_022047.4" HGNC:2760 +HGNC:25969 DEF8 differentially expressed in FDCP 8 homolog protein-coding gene gene with protein product Approved 16q24.3 16q24.3 FLJ20186 differentially expressed in FDCP 8 homolog (mouse) 2007-08-16 2016-07-14 2019-02-18 54849 ENSG00000140995 OTTHUMG00000138989 uc002fpo.3 AK131370 NM_207514 "CCDS58493|CCDS45555|CCDS58494|CCDS10989|CCDS58495|CCDS58496" Q6ZN54 27777970 MGI:1346331 RGD:1309008 HGNC:25969 "ENST00000563594.6|NM_001242818.2" +HGNC:2761 DEFA1 defensin alpha 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 HNP-1 "DEF1|MRS|DEFA2" "defensin, alpha 2|defensin, alpha 1, myeloid-related sequence|defensin, alpha 1" Defensins, alpha 502 1988-06-27 2005-08-31 2015-11-18 2015-11-18 1667 ENSG00000206047 OTTHUMG00000154594 uc003wqv.2 M26602 NM_004084 CCDS34797 P59665 "9030614|15944200" "MGI:94883|MGI:3630381|MGI:3630383|MGI:3630390|MGI:3642780|MGI:3646688|MGI:3705230|MGI:3705236|MGI:3708769|MGI:3709042|MGI:3709048|MGI:3711900|MGI:3808881" 125220 HGNC:2761 "ENST00000382692.3|NM_004084.4" +HGNC:32231 DEFA1A3 defensin alpha 1 and alpha 3, variable copy number locus other region Approved 8p23.1 08p23.1 "DEFA1|DEFA3|DEFT1P" defensin, alpha 1 and alpha 3, variable copy number locus Defensins, alpha 502 2005-08-31 2015-11-18 2015-11-18 613253 "15944200|16039093|15588320|17214878" +HGNC:33596 DEFA1B defensin alpha 1B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 defensin, alpha 1B Defensins, alpha 502 2009-08-05 2015-11-18 2015-11-18 728358 ENSG00000240247 OTTHUMG00000149850 uc064kbg.1 NM_001042500 CCDS43691 P59665 15944200 "MGI:94881|MGI:94882|MGI:99579|MGI:99580|MGI:99581|MGI:99583|MGI:99585|MGI:99586|MGI:99588|MGI:99590|MGI:99591|MGI:102509|MGI:1345152|MGI:1913548|MGI:3630383|MGI:3630385|MGI:3630390|MGI:3639039|MGI:3642780|MGI:3646688|MGI:3705230|MGI:3" HGNC:33596 "ENST00000382689.8|NM_001042500.2" +HGNC:2762 DEFA3 defensin alpha 3 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 HNP-3 DEF3 defensin, alpha 3, neutrophil-specific Defensins, alpha 502 1993-11-05 2015-11-18 2015-11-18 1668 ENSG00000239839 OTTHUMG00000090381 uc003wqz.3 M23281 NM_005217 CCDS5962 P59666 "8477861|17214878|15944200" "MGI:94882|MGI:94883|MGI:99579|MGI:99580|MGI:99581|MGI:99582|MGI:99583|MGI:99585|MGI:99586|MGI:99588|MGI:99590|MGI:99591|MGI:102509|MGI:1345152|MGI:3630303|MGI:3630381|MGI:3630383|MGI:3630385|MGI:3630390|MGI:3642780|MGI:3646688|MGI:370" 604522 HGNC:2762 "ENST00000327857.7|NM_005217.4" +HGNC:2763 DEFA4 defensin alpha 4 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 HP-4 DEF4 defensin, alpha 4, corticostatin Defensins, alpha 502 1993-11-05 2015-11-18 2015-11-18 1669 ENSG00000164821 OTTHUMG00000090382 uc003wqu.2 X65977 NM_001925 CCDS5961 P12838 8469233 "MGI:94883|MGI:99584|MGI:3611585|MGI:3630303|MGI:3630381|MGI:3648003|MGI:3705236|MGI:3709042" RGD:727857 601157 HGNC:2763 "ENST00000297435.3|NM_001925.3" +HGNC:2764 DEFA5 defensin alpha 5 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 HD-5 DEF5 defensin, alpha 5, Paneth cell-specific Defensins, alpha 502 1993-11-05 2015-11-18 2015-11-18 1670 ENSG00000164816 OTTHUMG00000090383 uc003wra.2 BC069690 NM_021010 CCDS5963 Q01523 1429669 "MGI:99579|MGI:99580|MGI:99581|MGI:99582|MGI:99583|MGI:99584|MGI:99585|MGI:99586|MGI:99588|MGI:99590|MGI:99591|MGI:99592|MGI:102514|MGI:102516|MGI:3630383|MGI:3630390|MGI:3642780|MGI:3646688|MGI:3705230|MGI:3708769|MGI:3709048|MGI:3711" RGD:727951 600472 HGNC:2764 "ENST00000330590.4|NM_021010.3" +HGNC:2765 DEFA6 defensin alpha 6 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "HD-6|DEF6" defensin, alpha 6, Paneth cell-specific Defensins, alpha 502 1993-11-05 2015-11-18 2015-11-18 1671 ENSG00000164822 OTTHUMG00000149984 uc003wqt.4 M98331 NM_001926 CCDS5960 Q01524 8417977 "MGI:94881|MGI:94882|MGI:94883|MGI:99579|MGI:99580|MGI:99581|MGI:99582|MGI:99583|MGI:99584|MGI:99585|MGI:99586|MGI:99587|MGI:99588|MGI:99590|MGI:99591|MGI:102509|MGI:1345152|MGI:1913548|MGI:3611585|MGI:3630303|MGI:3630381|MGI:3630383" 600471 HGNC:2765 "ENST00000297436.3|NM_001926.4" +HGNC:31798 DEFA7P defensin alpha 7, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 DEFA7 "defensin, alpha 7|defensin, alpha 7 pseudogene" Defensins, alpha 502 2004-09-29 2007-02-23 2015-11-18 2015-11-18 724067 ENSG00000206042 OTTHUMG00000143737 AY746432 NG_005908 "15494476|15588320" HGNC:31798 +HGNC:31799 DEFA8P defensin alpha 8, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 DEFAP1 defensin, alpha 8 pseudogene Defensins, alpha 502 2004-09-29 2015-11-18 2015-11-18 449491 ENSG00000223629 OTTHUMG00000150024 AY746433 NR_073407 "15494476|15588320" HGNC:31799 +HGNC:31800 DEFA9P defensin alpha 9, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 DEFAP2 defensin, alpha 9 pseudogene Defensins, alpha 502 2004-09-29 2015-11-18 2015-11-18 449492 ENSG00000233238 OTTHUMG00000150021 AY746434 NR_073408 "15494476|15588320" HGNC:31800 +HGNC:31801 DEFA10P defensin alpha 10, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 defensin, alpha 10 pseudogene Defensins, alpha 502 2004-09-29 2015-11-18 2015-11-18 449493 ENSG00000233531 OTTHUMG00000150022 AY746435 NR_029386 15494476 HGNC:31801 +HGNC:33354 DEFA11P defensin alpha 11, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 DEFAP3 defensin, alpha 11 pseudogene Defensins, alpha 502 2007-02-23 2015-11-18 2015-11-18 724068 ENSG00000234178 OTTHUMG00000150023 AY746436 NR_073421 "15494476|15588320" HGNC:33354 +HGNC:2766 DEFB1 defensin beta 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "HBD-1|DEFB-1|DEFB101|HBD1|BD1|MGC51822" "beta-defensin 1|beta defensin 1" defensin, beta 1 Defensins, beta 503 1997-05-29 2015-11-18 2015-11-18 1672 ENSG00000164825 OTTHUMG00000090367 uc003wqs.4 X92744 NM_005218 CCDS5959 P60022 7628632 MGI:1096878 RGD:619943 602056 HGNC:2766 "ENST00000297439.4|NM_005218.4" +HGNC:2767 DEFB4A defensin beta 4A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "SAP1|HBD-2|DEFB-2" "beta defensin 2|beta defensin-2|beta-defensin 2" "DEFB102|DEFB2|DEFB4" "defensin, beta 2|defensin, beta 4|defensin, beta 4A" "Defensins, beta|Receptor ligands" "503|542" 1997-08-28 2010-03-01 2015-11-18 2017-04-21 1673 ENSG00000171711 OTTHUMG00000129314 uc003wsd.4 AJ000152 NM_004942 CCDS5971 O15263 9202117 RGD:619944 602215 ligandId:3648 HGNC:2767 "ENST00000302247.3|NM_004942.4" +HGNC:30193 DEFB4B defensin beta 4B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "beta defensin 2|beta defensin-2|beta-defensin 2" DEFB4P "defensin, beta 4, pseudogene|defensin, beta 4B" Defensins, beta 503 2005-02-25 2010-03-01 2015-11-18 2017-04-21 100289462 ENSG00000177257 OTTHUMG00000143857 uc022arf.2 NM_001205266 CCDS55193 O15263 "MGI:1351612|MGI:1927667|MGI:1933153|MGI:2151044|MGI:2179200|MGI:2654206" RGD:1563630 ligandId:3648 HGNC:30193 "ENST00000318157.3|NM_001205266.2" +HGNC:15967 DEFB103A defensin beta 103A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "HBD-3|HBP-3|HBD3|HBP3|DEFB-3" "beta defensin 3|beta defensin-3|beta-defensin 3" "DEFB3|DEFB103" "defensin, beta 3|defensin, beta 103A" Defensins, beta 503 2001-06-25 2004-06-04 2015-11-18 2017-04-21 414325 ENSG00000176797 OTTHUMG00000143855 uc003wsc.4 AF217245 NM_001081551 CCDS43701 P81534 "11223260|11085990" MGI:2675345 RGD:1561378 HGNC:15967 "ENST00000314357.4|NM_001081551.4" +HGNC:31702 DEFB103B defensin beta 103B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 defensin, beta 103B Defensins, beta 503 2004-06-03 2015-11-18 2017-04-21 55894 ENSG00000177243 OTTHUMG00000129313 uc003wrf.4 NM_018661 CCDS34810 P81534 MGI:2675345 606611 HGNC:31702 "ENST00000318124.3|NM_018661.4" +HGNC:18115 DEFB104A defensin beta 104A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "DEFB4|DEFB-4" DEFB104 "defensin, beta 104|defensin, beta 104A" Defensins, beta 503 2002-05-09 2005-02-25 2015-11-18 2017-04-21 140596 ENSG00000176782 OTTHUMG00000150014 uc003wrv.3 AJ314835 NM_080389 CCDS34834 Q8WTQ1 HGNC:18115 "ENST00000314265.3|NM_080389.3" +HGNC:26165 DEFB104B defensin beta 104B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 defensin, beta 104B Defensins, beta 503 2005-02-25 2015-11-18 2017-04-21 503618 ENSG00000177023 OTTHUMG00000149986 uc003wrn.3 NM_001040702 CCDS34812 Q8WTQ1 HGNC:26165 "ENST00000316169.2|NM_001040702.1" +HGNC:18087 DEFB105A defensin beta 105A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 DEFB-5 DEFB105 "defensin, beta 105|defensin, beta 105A" Defensins, beta 503 2002-05-09 2005-03-03 2015-11-18 2017-04-21 245908 ENSG00000186562 OTTHUMG00000150011 uc011kwr.3 AB089180 NM_152250 CCDS34832 Q8NG35 "11854508|12734011" MGI:1924924 HGNC:18087 "ENST00000334773.7|NM_152250.3" +HGNC:29930 DEFB105B defensin beta 105B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 defensin, beta 105B Defensins, beta 503 2005-02-28 2015-11-18 2017-04-21 504180 ENSG00000186599 OTTHUMG00000129315 uc011kwp.3 NM_001040703 CCDS34814 Q8NG35 MGI:1924924 RGD:1564879 HGNC:29930 "ENST00000335510.7|NM_001040703.3" +HGNC:18088 DEFB106A defensin beta 106A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 DEFB-6 DEFB106 "defensin, beta 106|defensin, beta 106A" Defensins, beta 503 2002-05-09 2005-03-03 2015-11-18 2017-04-21 245909 ENSG00000186579 OTTHUMG00000150012 uc003wru.1 AY122466 NM_152251 CCDS34833 Q8N104 11854508 MGI:2672979 HGNC:18088 "ENST00000335186.3|NM_152251.4" +HGNC:28879 DEFB106B defensin beta 106B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 defensin, beta 106B Defensins, beta 503 2005-02-28 2015-11-18 2017-04-21 503841 ENSG00000187082 OTTHUMG00000129312 uc003wro.2 NM_001040704 CCDS34813 Q8N104 MGI:2672979 RGD:1563061 HGNC:28879 "ENST00000335479.2|NM_001040704.2" +HGNC:18086 DEFB107A defensin beta 107A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 DEFB-7 DEFB107 defensin, beta 107A Defensins, beta 503 2002-05-09 2005-02-25 2015-11-18 2017-04-21 245910 ENSG00000186572 OTTHUMG00000150013 uc003wrs.1 AF540979 NM_001037668 CCDS43699 Q8IZN7 11854508 HGNC:18086 "ENST00000335021.2|NM_001037668.1" +HGNC:31918 DEFB107B defensin beta 107B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 HsT21816 defensin, beta 107B Defensins, beta 503 2005-02-25 2015-11-18 2017-04-21 503614 ENSG00000198129 OTTHUMG00000149987 uc003wrq.1 NM_001040705 CCDS43696 Q8IZN7 MGI:2179203 RGD:1559883 HGNC:31918 "ENST00000355602.3|NM_001040705.2" +HGNC:18089 DEFB108A defensin beta 108A other unknown Approved 8p23.1 08p23.1 DEFB-8 "DEFB108|DEFB108P1" "defensin, beta 108|defensin, beta 108, pseudogene 1|defensin beta 108 pseudogene 1" Defensins, beta 503 2002-05-09 2017-04-21 2017-04-21 2019-06-20 503694 ENSG00000229907 OTTHUMG00000165402 NG_005426 A8MXU0 11854508 HGNC:18089 +HGNC:29966 DEFB108B defensin beta 108B protein-coding gene gene with protein product Approved 11q13.4 11q13.4 defensin, beta 108B Defensins, beta 503 2005-02-28 2015-11-18 2017-10-04 245911 ENSG00000184276 OTTHUMG00000167533 uc010rqr.2 AF529416 NM_001002035 CCDS31631 Q8NET1 HGNC:29966 "ENST00000328698.2|NM_001002035.2" +HGNC:30847 DEFB108C defensin beta 108C other unknown Approved 8p23.1 08p23.1 DEFB108P2 "defensin, beta 108, pseudogene 2|defensin beta 108 pseudogene 2" Defensins, beta 503 2005-02-28 2017-04-21 2017-04-21 2019-06-20 503837 ENSG00000215371 OTTHUMG00000143856 NG_007389.1 A8MXU0 HGNC:30847 +HGNC:26227 DEFB108D defensin beta 108D (pseudogene) pseudogene pseudogene Approved 8p23.1 08p23.1 DEFB108P3 "defensin, beta 108, pseudogene 3|defensin beta 108 pseudogene 3" Defensins, beta 503 2005-02-28 2017-04-21 2017-04-21 2017-04-21 504185 ENSG00000255544 OTTHUMG00000165316 NG_007390.1 HGNC:26227 +HGNC:30174 DEFB108E defensin beta 108E (pseudogene) pseudogene pseudogene Approved 8p23.1 08p23.1 DEFB108P4 "defensin, beta 108, pseudogene 4|defensin beta 108 pseudogene 4" Defensins, beta 503 2005-02-28 2017-04-21 2017-04-21 2017-04-21 503840 ENSG00000254623 OTTHUMG00000165456 NG_007391.1 HGNC:30174 +HGNC:38062 DEFB108F defensin beta 108F (pseudogene) pseudogene pseudogene Approved 4p16.1 04p16.1 DEFB108P5 defensin beta 108 pseudogene 5 Defensins, beta 503 2017-04-20 2017-04-21 2017-04-21 2017-04-21 100133128 ENSG00000188438 OTTHUMG00000160193 NG_055518 PGOHUM00000250753 HGNC:38062 +HGNC:18090 DEFB109A defensin beta 109A (pseudogene) pseudogene pseudogene Approved 8p23.1 08p23.1 DEFB-9 "DEFB109|DEFB109P1" "defensin, beta 109|defensin, beta 109, pseudogene 1|defensin beta 109 pseudogene 1" Defensins, beta 503 2002-05-09 2017-04-21 2017-04-21 2017-04-21 245912 ENSG00000242296 OTTHUMG00000158671 NR_024044 11854508 HGNC:18090 +HGNC:33469 DEFB109B defensin beta 109B other unknown Approved 8p23.1 08p23.1 DEFB109P1B "defensin, beta 109, pseudogene 1B|defensin beta 109 pseudogene 1B" Defensins, beta 503 2009-04-24 2017-04-21 2017-04-21 2019-06-20 641517 ENSG00000206034 OTTHUMG00000149982 NM_001037380 Q30KR1 RGD:1560445 HGNC:33469 +HGNC:43844 DEFB109C defensin beta 109C other unknown Approved 8p23.1 08p23.1 Defensins, beta 503 2017-04-21 2019-06-20 100286963 ENSG00000205989 OTTHUMG00000150018 NG_055545 16033865 MGI:3646223 HGNC:43844 +HGNC:30838 DEFB109D defensin beta 109D (pseudogene) pseudogene pseudogene Approved 8p23.1 08p23.1 DEFB109P3 "defensin, beta 109, pseudogene 3|defensin beta 109 pseudogene 3" Defensins, beta 503 2005-02-28 2017-04-21 2017-04-21 2017-04-21 503838 ENSG00000254866 OTTHUMG00000165296 NG_028121 PGOHUM00000249237 HGNC:30838 +HGNC:30592 DEFB109E defensin beta 109E (pseudogene) pseudogene pseudogene Approved 8p23.1 08p23.1 DEFB109P2 "defensin, beta 109, pseudogene 2|defensin beta 109 pseudogene 2" Defensins, beta 503 2005-02-28 2017-04-21 2017-04-21 2017-04-21 503839 NG_023401 HGNC:30592 +HGNC:38066 DEFB109F defensin beta 109F (pseudogene) pseudogene pseudogene Approved 12p13.31 12p13.31 Defensins, beta 503 2017-04-21 2017-04-21 110806268 ENSG00000244050 OTTHUMG00000158674 NG_065970 HGNC:38066 +HGNC:18091 DEFB110 defensin beta 110 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "DEFB-10|DEFB-11|DEFB111" "defensin, beta 110 locus|defensin, beta 110" Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245913 ENSG00000203970 OTTHUMG00000160208 uc003pac.3 "DQ012014|BC148541" NM_001037728 "CCDS34475|CCDS43473" Q30KQ9 "11854508|16033865" MGI:1924923 RGD:1565718 HGNC:18091 "ENST00000371148.3|NM_001037497.2" +HGNC:18093 DEFB112 defensin beta 112 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 DEFB-12 defensin, beta 112 Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245915 ENSG00000180872 OTTHUMG00000160215 uc011dws.2 DQ012016 NM_001037498 CCDS34476 Q30KQ8 "11854508|16033865" HGNC:18093 "ENST00000651554.2|NM_001369057.2" +HGNC:18094 DEFB113 defensin beta 113 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 DEFB-13 defensin, beta 113 Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245927 ENSG00000214642 OTTHUMG00000160210 uc011dwq.2 DQ012017 NM_001037729 CCDS43472 Q30KQ7 "11854508|16033865" MGI:3648148 RGD:1559758 HGNC:18094 "ENST00000398718.1|NM_001037729.1" +HGNC:18095 DEFB114 defensin beta 114 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 DEFB-14 defensin, beta 114 Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245928 ENSG00000177684 OTTHUMG00000160209 uc011dwp.3 DQ012018 NM_001037499 CCDS34474 Q30KQ6 "11854508|16033865" 615243 HGNC:18095 "ENST00000322066.4|NM_001037499.2" +HGNC:18096 DEFB115 defensin beta 115 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DEFB-15 defensin, beta 115 Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245929 ENSG00000215547 OTTHUMG00000159284 uc002wvp.1 DQ012019 NM_001037730 CCDS42859 Q30KQ5 "11854508|16033865" MGI:3650536 RGD:1565792 HGNC:18096 "ENST00000400552.1|NM_001037730.1" +HGNC:18097 DEFB116 defensin beta 116 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DEFB-16 defensin, beta 16 defensin, beta 116 Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245930 ENSG00000215545 OTTHUMG00000159285 uc010ztm.2 DQ012020 NM_001037731 CCDS42860 Q30KQ4 "11854508|16033865" MGI:1922650 RGD:1564030 HGNC:18097 "ENST00000400549.1|NM_001037731.1" +HGNC:18098 DEFB117 defensin beta 117 (pseudogene) pseudogene pseudogene Approved 20q11.21 20q11.21 DEFB-17 defensin, beta 17 "defensin, beta 117|defensin, beta 117 (pseudogene)" Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245931 ENSG00000212717 OTTHUMG00000184006 DQ012021 NG_032981 "11854508|16033865" MGI:4937050 HGNC:18098 +HGNC:16196 DEFB118 defensin beta 118 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ1018D12.3|DEFB-18|ESC42" C20orf63 "chromosome 20 open reading frame 63|defensin, beta 118" Defensins, beta 503 2001-07-17 2002-05-10 2015-11-18 2015-11-18 117285 ENSG00000131068 OTTHUMG00000032161 uc002wvr.4 AF347073 NM_054112 CCDS13177 Q96PH6 "11564719|15033915" MGI:2684967 RGD:1562393 607650 HGNC:16196 "ENST00000253381.3|NM_054112.3" +HGNC:18099 DEFB119 defensin beta 119 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "DEFB-19|DEFB-20" DEFB120 "defensin, beta 120|defensin, beta 119" Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245932 ENSG00000180483 OTTHUMG00000032172 uc002wvt.5 AA939044 NM_153289 "CCDS33455|CCDS13178" Q8N690 11854508 MGI:2385955 RGD:1559541 615997 HGNC:18099 "ENST00000376321.4|NM_153289.4" +HGNC:18101 DEFB121 defensin beta 121 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DEFB-21 defensin, beta 21 defensin, beta 121 Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245934 ENSG00000204548 OTTHUMG00000032171 uc002wvv.3 AI476463 NM_001011878 CCDS33456 Q5J5C9 11854508 616075 HGNC:18101 "ENST00000376314.3|NM_001011878.3" +HGNC:18102 DEFB122 defensin beta 122 (pseudogene) pseudogene pseudogene Approved 20q11.21 20q11.21 "DEFB-22|DEFB122P" "defensin, beta 122|defensin, beta 122 (pseudogene)" Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245935 ENSG00000204547 OTTHUMG00000032169 AI989655 NR_045677 "11854508|15772680" 616077 HGNC:18102 +HGNC:18103 DEFB123 defensin beta 123 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DEFB-23 beta defensin 23 defensin, beta 123 Defensins, beta 503 2002-05-09 2015-11-18 2016-10-05 245936 ENSG00000180424 OTTHUMG00000032170 uc002wvy.4 AA933749 NM_153324 CCDS13180 Q8N688 11854508 MGI:2385956 RGD:1564902 616076 HGNC:18103 "ENST00000376309.4|NM_153324.4" +HGNC:18104 DEFB124 defensin beta 124 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DEFB-24 defensin, beta 24 defensin, beta 124 Defensins, beta 503 2002-05-09 2015-11-18 2016-10-05 245937 ENSG00000180383 OTTHUMG00000159287 uc002wvz.1 DQ119827 NM_001037500 CCDS33457 Q8NES8 "11854508|16033865" MGI:3651158 RGD:1564765 HGNC:18104 "ENST00000317676.3|NM_001037500.2" +HGNC:18105 DEFB125 defensin beta 125 protein-coding gene gene with protein product Approved 20p13 20p13 DEFB-25 beta defensin 25 defensin, beta 125 Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245938 ENSG00000178591 OTTHUMG00000031614 uc002wcw.4 AA935636 NM_153325 CCDS12989 Q8N687 11854508 MGI:3643488 RGD:1564413 HGNC:18105 "ENST00000382410.3|NM_153325.4" +HGNC:15900 DEFB126 defensin beta 126 protein-coding gene gene with protein product Approved 20p13 20p13 "bA530N10.1|DEFB-26" C20orf8 "chromosome 20 open reading frame 8|defensin, beta 126" Defensins, beta 503 2001-06-21 2002-05-10 2015-11-18 2015-11-18 81623 ENSG00000125788 OTTHUMG00000031616 uc002wcx.5 NM_030931 CCDS12990 Q9BYW3 11854508 MGI:3045368 RGD:708352 HGNC:15900 "ENST00000382398.4|NM_030931.4" +HGNC:16206 DEFB127 defensin beta 127 protein-coding gene gene with protein product Approved 20p13 20p13 "bA530N10.2|DEF-27" C20orf73 "chromosome 20 open reading frame 73|defensin, beta 127" Defensins, beta 503 2001-07-17 2002-05-10 2015-11-18 2015-11-18 140850 ENSG00000088782 OTTHUMG00000031617 uc002wcy.2 AY358796 NM_139074 CCDS12991 Q9H1M4 11854508 HGNC:16206 "ENST00000382388.4|NM_139074.4" +HGNC:18106 DEFB128 defensin beta 128 protein-coding gene gene with protein product Approved 20p13 20p13 DEFB-28 defensin, beta 28 defensin, beta 128 Defensins, beta 503 2002-05-09 2015-11-18 2015-11-18 245939 ENSG00000185982 OTTHUMG00000043057 uc002wcz.2 AF525930 NM_001037732 CCDS33430 Q7Z7B8 "11854508|16033865" MGI:2442320 RGD:1565177 HGNC:18106 "ENST00000334391.5|NM_001037732.3" +HGNC:16218 DEFB129 defensin beta 129 protein-coding gene gene with protein product Approved 20p13 20p13 "bA530N10.3|DEFB-29" C20orf87 "chromosome 20 open reading frame 87|defensin, beta 129" Defensins, beta 503 2001-07-17 2002-05-10 2015-11-18 2015-11-18 140881 ENSG00000125903 OTTHUMG00000031618 uc002wda.3 AY358186 NM_080831 CCDS12992 Q9H1M3 11854508 MGI:3644405 RGD:1560097 HGNC:16218 "ENST00000246105.4|NM_080831.4" +HGNC:18107 DEFB130A defensin beta 130A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "DEFB-30|DEFB30" DEFB130 "defensin, beta 130|defensin beta 130" Defensins, beta 503 2002-05-09 2017-04-20 2017-04-20 2017-04-20 245940 ENSG00000232948 OTTHUMG00000158742 uc003wvn.1 DQ012022 NM_001037804 CCDS43714 P0DP74 "11854508|16033865|28181499" MGI:3644478 HGNC:18107 "ENST00000400079.1|NM_001037804.1" +HGNC:39814 DEFB130B defensin beta 130B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 Defensins, beta 503 2017-04-20 2017-04-20 100133267 ENSG00000233050 OTTHUMG00000158721 NM_001195257 CCDS56524 P0DP73 28181499 MGI:3644478 RGD:1562459 HGNC:39814 "ENST00000437818.1|NM_001195257.1" +HGNC:43843 DEFB130C defensin beta 130C (pseudogene) pseudogene pseudogene Approved 11q13.4 11q13.4 Defensins, beta 503 2017-04-20 2017-04-21 2017-04-21 2017-04-21 110806270 ENSG00000255157 OTTHUMG00000167534 NG_065971 HGNC:43843 +HGNC:38059 DEFB130D defensin beta 130D (pseudogene) pseudogene pseudogene Approved 4p16.1 04p16.1 Defensins, beta 503 2017-04-20 2017-04-21 2017-04-21 2017-04-21 110806292 ENSG00000232773 OTTHUMG00000160190 NG_065973 HGNC:38059 +HGNC:18108 DEFB131A defensin beta 131A protein-coding gene gene with protein product Approved 4p16.1 04p16.1 DEFB-31 DEFB131 "defensin, beta 131|defensin beta 131" Defensins, beta 503 2002-05-09 2017-04-20 2017-04-20 2017-04-20 644414 ENSG00000186146 OTTHUMG00000160187 uc011bwt.2 AF529414 NM_001040448 CCDS43213 P59861 "11854508|16033865|12600824|26649771" MGI:3647180 RGD:1566384 HGNC:18108 "ENST00000334879.2|NM_001040448.3" +HGNC:38058 DEFB131B defensin beta 131B protein-coding gene gene with protein product Approved 11q13.4 11q13.4 Defensins, beta 503 2017-04-20 2017-04-20 100129216 ENSG00000225805 OTTHUMG00000167536 NM_001242853 CCDS76450 A0A096LNP1 26649771 MGI:3647180 HGNC:38058 "ENST00000530210.1|NM_001242853.1" +HGNC:38060 DEFB131C defensin beta 131C (pseudogene) pseudogene pseudogene Approved 8p23.1 08p23.1 Defensins, beta 503 2017-04-21 2017-04-21 2017-04-21 2017-04-21 100128174 ENSG00000254700 OTTHUMG00000165473 NG_029368 PGOHUM00000303088 HGNC:38060 +HGNC:38061 DEFB131D defensin beta 131D (pseudogene) pseudogene pseudogene Approved 8p23.1 08p23.1 Defensins, beta 503 2017-04-21 2017-04-21 2017-04-21 100287066 ENSG00000237215 OTTHUMG00000165455 NG_029369 PGOHUM00000258333 HGNC:38061 +HGNC:39765 DEFB131E defensin beta 131E (pseudogene) pseudogene pseudogene Approved 8p23.1 08p23.1 Defensins, beta 503 2017-04-21 2017-04-21 110806269 ENSG00000254507 OTTHUMG00000165312 NG_068472 PGOHUM00000249231 +HGNC:33806 DEFB132 defensin beta 132 protein-coding gene gene with protein product Approved 20p13 20p13 "RP5-1103G7.6|DEFB32" defensin, beta 132 Defensins, beta 503 2008-04-24 2015-11-18 2015-11-18 400830 ENSG00000186458 OTTHUMG00000043061 uc002wdb.4 AF525932 NM_207469 CCDS12993 Q7Z7B7 18416833 HGNC:33806 "ENST00000382376.4|NM_207469.3" +HGNC:31331 DEFB133 defensin beta 133 (pseudogene) pseudogene pseudogene Approved 6p12.3 06p12.3 "defensin, beta 133|defensin beta 133" Defensins, beta 503 2004-03-02 2020-09-29 2020-09-29 403339 ENSG00000214643 OTTHUMG00000187384 uc063ozl.1 NR_163261 Q30KQ1 RGD:1560245 HGNC:31331 +HGNC:32399 DEFB134 defensin beta 134 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 defensin, beta 134 Defensins, beta 503 2008-11-28 2015-11-18 2015-11-18 613211 ENSG00000205882 OTTHUMG00000158718 uc011kxn.3 "AY621331|DQ012024" NM_001033019 CCDS34847 Q4QY38 16033865 HGNC:32399 +HGNC:32400 DEFB135 defensin beta 135 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 defensin, beta 135 Defensins, beta 503 2009-05-27 2015-11-18 2015-11-18 613209 ENSG00000205883 OTTHUMG00000158719 uc003wuw.1 DQ012025 NM_001033017 CCDS43710 Q30KP9 16033865 MGI:1920920 RGD:1559641 HGNC:32400 "ENST00000382208.3|NM_001033017.3" +HGNC:34433 DEFB136 defensin beta 136 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 DEFB137 defensin, beta 136 Defensins, beta 503 2009-05-27 2015-11-18 2015-11-18 613210 ENSG00000205884 OTTHUMG00000158720 uc011kxm.2 DQ012026 NM_001033018 CCDS43709 Q30KP8 16033865 MGI:3033850 RGD:1562179 HGNC:34433 "ENST00000382209.2|NM_001033018.2" +HGNC:18339 DEFT1P defensin theta 1, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 retrocyclin "DEFQ1|DEFT1" defensin, theta 1 2002-06-11 2005-03-30 2019-01-21 2019-01-21 170949 ENSG00000215378 OTTHUMG00000149997 AF355799 NG_005042 "11854483|15588320|15019196" HGNC:18339 +HGNC:33599 DEFT1P2 defensin theta 1, pseudogene 2 pseudogene pseudogene Approved 8p23.1 08p23.1 defensin, theta 1 pseudogene 2 2009-08-12 2019-01-21 2019-01-21 100287083 ENSG00000232039 OTTHUMG00000150570 NR_036687 "15944200|17214878" HGNC:33599 +HGNC:13709 DEGS1 delta 4-desaturase, sphingolipid 1 protein-coding gene gene with protein product Approved 1q42.11 01q42.11 "MLD|Des-1|DES1|FADS7|DEGS-1" "sphingolipid delta(4)-desaturase 1|dihydroceramide desaturase 1" degenerative spermatocyte homolog 1, lipid desaturase (Drosophila) Fatty acid desaturases 553 2000-11-09 2004-12-14 2016-06-21 2016-06-21 8560 ENSG00000143753 OTTHUMG00000037496 uc001hoj.4 AF002668 NM_001321541 CCDS1540 O15121 "9188692|20105137" MGI:1097711 RGD:70917 615843 objectId:2484 1.14.19.17 HGNC:13709 "ENST00000323699.9|NM_003676.4" HGNC:13709 +HGNC:20113 DEGS2 delta 4-desaturase, sphingolipid 2 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "DES2|FADS8" "sphingolipid delta(4)-desaturase 2|dihydroceramide desaturase 2" C14orf66 "chromosome 14 open reading frame 66|degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)" Fatty acid desaturases 553 2002-12-18 2004-12-14 2016-06-21 2016-06-21 123099 ENSG00000168350 OTTHUMG00000171537 uc001ygx.3 NM_206918 CCDS9956 Q6QHC5 MGI:1917309 RGD:1305023 610862 objectId:2485 HGNC:20113 "ENST00000305631.7|NM_206918.3" +HGNC:2768 DEK DEK proto-oncogene protein-coding gene gene with protein product Approved 6p22.3 06p22.3 D6S231E "DEK oncogene (DNA binding)|DEK oncogene" B-WICH chromatin-remodelling complex subunits 1787 2000-02-21 2014-06-25 2021-04-13 7913 ENSG00000124795 OTTHUMG00000014319 uc003ncr.2 X64229 NM_001134709 "CCDS34344|CCDS47382" P35659 1549122 MGI:1926209 RGD:1303246 LRG_1375|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1375.xml DEK 125264 168426 HGNC:2768 "ENST00000652689.1|NM_003472.4" +HGNC:28969 DELE1 DAP3 binding cell death enhancer 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 DELE death ligand signal enhancer KIAA0141 KIAA0141 2004-12-08 2018-02-19 2018-02-19 2018-02-19 9812 ENSG00000081791 OTTHUMG00000129662 uc003llt.4 BC011269 NM_014773 CCDS4268 Q14154 20563667 MGI:1914089 RGD:735029 615741 HGNC:28969 "ENST00000432126.7|NM_014773.5" +HGNC:23658 DELEC1 deleted in esophageal cancer 1 non-coding RNA RNA, long non-coding Approved 9q33.1 09q33.1 CTS9 candidate tumor suppressor 9 DEC1 Long non-coding RNAs with non-systematic symbols 1992 2003-11-28 2019-10-10 2019-10-10 50514 ENSG00000173077 OTTHUMG00000020549 uc004bjk.1 AB022761 NR_163556 Q9P2X7 "8603412|10612805" 604767 HGNC:23658 +HGNC:29324 DENND1A DENN domain containing 1A protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "FLJ21129|FAM31A" connecdenn 1 KIAA1608 "KIAA1608|DENN/MADD domain containing 1A" "DENN domain containing|MicroRNA protein coding host genes" "504|1691" 2004-01-29 2005-08-17 2016-02-12 2016-10-05 57706 ENSG00000119522 OTTHUMG00000020643 uc004bnz.2 AB046828 NM_024820 "CCDS35134|CCDS87687|CCDS35133" Q8TEH3 10997877 MGI:2442794 RGD:1307927 613633 HGNC:29324 "ENST00000394215.7|NM_001352964.2" +HGNC:28404 DENND1B DENN domain containing 1B protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "MGC27044|FLJ20054" connecdenn 2 "FAM31B|C1orf218" "family with sequence similarity 31, member B|chromosome 1 open reading frame 218|DENN/MADD domain containing 1B" DENN domain containing 504 2004-01-29 2005-08-17 2016-02-12 2019-02-19 163486 ENSG00000213047 OTTHUMG00000035653 uc001guf.4 BC016588 NM_144977 "CCDS41452|CCDS72997|CCDS72996" Q6P3S1 "20032318|26774822" MGI:2447812 RGD:1308441 613292 HGNC:28404 "ENST00000620048.6|NM_001195215.2" +HGNC:26225 DENND1C DENN domain containing 1C protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ22757 connecdenn 3 FAM31C "family with sequence similarity 31, member C|DENN/MADD domain containing 1C" DENN domain containing 504 2004-01-29 2005-08-17 2016-02-12 2019-02-19 79958 ENSG00000205744 OTTHUMG00000180853 uc002mfe.4 AL713770 NM_024898 "CCDS77225|CCDS45938" Q8IV53 20937701 MGI:1918035 RGD:1590869 613634 HGNC:26225 "ENST00000381480.7|NM_024898.4" +HGNC:22212 DENND2A DENN domain containing 2A protein-coding gene gene with protein product Approved 7q34 07q34 FAM31D KIAA1277 "KIAA1277|DENN/MADD domain containing 2A" DENN domain containing 504 2004-01-29 2005-08-17 2016-02-12 2016-02-12 27147 ENSG00000146966 OTTHUMG00000157411 uc003vvw.3 AB033103 NM_015689 "CCDS43659|CCDS83233" Q9ULE3 MGI:2444961 RGD:1306142 HGNC:22212 "ENST00000496613.6|NM_015689.5" +HGNC:11350 DENND2B DENN domain containing 2B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "HTS1|p126" "DENN/MADD domain containing 2B|HeLa tumor suppression" ST5 suppression of tumorigenicity 5 DENN domain containing 504 1992-07-09 2019-08-27 2019-08-27 2019-08-27 6764 ENSG00000166444 OTTHUMG00000165835 uc001mgv.4 U15131 NM_005418 "CCDS7792|CCDS7791" P78524 "1390339|9632734" MGI:108517 RGD:1308995 140750 HGNC:11350 "ENST00000313726.11|NM_213618.2" +HGNC:56176 DENND2B-AS1 DENND2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2022-01-14 2022-01-14 102724784 ENSG00000255159 NR_120590 +HGNC:24748 DENND2C DENN domain containing 2C protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ37099|DKFZp686G0351|DKFZp779P1149|dJ1156J9.1|RP5-1156J9.1" DENN/MADD domain containing 2C DENN domain containing 504 2005-08-17 2016-02-12 2016-10-05 163259 ENSG00000175984 OTTHUMG00000011893 uc001efc.2 NM_198459 "CCDS58018|CCDS875" Q68D51 MGI:3036254 RGD:1308197 HGNC:24748 "ENST00000393274.6|NM_001256404.2" +HGNC:26192 DENND2D DENN domain containing 2D protein-coding gene gene with protein product Approved 1p13.3-p13.2 01p13.3-p13.2 "FLJ22457|RP5-1180E21.2" DENN/MADD domain containing 2D DENN domain containing 504 2005-08-17 2016-02-12 2019-02-19 79961 ENSG00000162777 OTTHUMG00000012356 uc001eak.3 NM_024901 "CCDS60219|CCDS831" Q9H6A0 29030480 MGI:2181193 RGD:1305120 615111 HGNC:26192 "ENST00000357640.9|NM_024901.5" +HGNC:29134 DENND3 DENN domain containing 3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA0870 DENN/MADD domain containing 3 "WD repeat domain containing|DENN domain containing" "362|504" 2005-08-17 2016-02-12 2017-05-08 22898 ENSG00000105339 OTTHUMG00000164775 uc003yvy.4 AB020677 NM_014957 CCDS87629 A2RUS2 28249939 MGI:2146009 RGD:1311559 617503 HGNC:29134 "ENST00000519811.6|NM_001352890.3" +HGNC:55537 DENND3-AS1 DENND3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 Antisense RNAs 1987 2021-03-24 2021-03-24 101927963 ENSG00000253210 XR_001746122 +HGNC:24321 DENND4A DENN domain containing 4A protein-coding gene gene with protein product Approved 15q22.31 15q22.31 IRLB MYCPBP "c-myc promoter binding protein|DENN/MADD domain containing 4A" "DENN domain containing|MicroRNA protein coding host genes" "504|1691" 2004-07-02 2006-01-27 2016-02-12 2019-08-21 10260 ENSG00000174485 OTTHUMG00000172635 uc002aph.4 AF534403 NM_005848 "CCDS45285|CCDS53949" Q7Z401 "8056341|12906859" MGI:2142979 RGD:1562639 600382 HGNC:24321 "ENST00000443035.8|NM_001320835.1" +HGNC:29044 DENND4B DENN domain containing 4B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 KIAA0476 "KIAA0476|DENN/MADD domain containing 4B" DENN domain containing 504 2004-04-05 2006-01-27 2016-02-12 2018-11-15 9909 ENSG00000198837 OTTHUMG00000037157 uc001fdd.2 AB007945 NM_014856 CCDS44228 O75064 "9455484|12906859" MGI:2446201 RGD:1560320 HGNC:29044 "ENST00000361217.9|NM_014856.3" HGNC:29044 +HGNC:26079 DENND4C DENN domain containing 4C protein-coding gene gene with protein product Approved 9p22.1 09p22.1 "FLJ20686|bA513M16.3|RAB10GEF" "C9orf55B|C9orf55" "chromosome 9 open reading frame 55B|chromosome 9 open reading frame 55|DENN/MADD domain containing 4C" DENN domain containing 504 2004-01-05 2006-01-27 2016-02-12 2016-06-07 55667 ENSG00000137145 OTTHUMG00000019627 uc031tcw.2 AK000693 NM_017925 "CCDS6491|CCDS83349" Q5VZ89 "12906859|21454697" MGI:1914769 RGD:1308489 HGNC:26079 "ENST00000434457.7|NM_001330640.2" +HGNC:19344 DENND5A DENN domain containing 5A protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA1091|FLJ22354|FLJ33829|FLJ43455" RAB6IP1 "RAB6 interacting protein 1|DENN/MADD domain containing 5A" DENN domain containing 504 2002-10-08 2008-08-14 2016-02-12 2018-02-28 23258 ENSG00000184014 OTTHUMG00000165716 uc001mhl.5 AB029014 NM_015213 "CCDS58119|CCDS31423" Q6IQ26 "10470851|20937701" MGI:1201681 RGD:1306759 617278 HGNC:19344 "ENST00000328194.8|NM_015213.4" HGNC:19344 +HGNC:28338 DENND5B DENN domain containing 5B protein-coding gene gene with protein product Approved 12p11.21 12p11.21 MGC24039 DENN/MADD domain containing 5B DENN domain containing 504 2008-08-14 2016-02-12 2016-02-12 160518 ENSG00000170456 OTTHUMG00000169034 uc001rki.2 AF086301 NM_144973 "CCDS44857|CCDS76542" Q6ZUT9 12477932 MGI:2444273 RGD:2318606 617279 HGNC:28338 "ENST00000389082.10|NM_144973.4" +HGNC:42517 DENND5B-AS1 DENND5B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 DENND5B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-03 2012-08-15 2014-11-19 100874249 ENSG00000255867 OTTHUMG00000169083 uc058mmp.1 NR_046909 DENND5B-AS1 HGNC:42517 +HGNC:26635 DENND6A DENN domain containing 6A protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "FLJ34969|AFI1A" FAM116A "family with sequence similarity 116, member A|DENN/MADD domain containing 6A" DENN domain containing 504 2006-04-07 2012-10-03 2016-02-12 2016-02-12 201627 ENSG00000174839 OTTHUMG00000158639 uc003dja.4 AK074156 NM_152678 CCDS33773 Q8IWF6 21330364 MGI:2442980 RGD:1306064 HGNC:26635 "ENST00000311128.10|NM_152678.3" +HGNC:41152 DENND6A-AS1 DENND6A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 Antisense RNAs 1987 2015-03-11 2015-03-11 106144528 ENSG00000239801 OTTHUMG00000158638 AW183704 DENND6A-AS1 +HGNC:51592 DENND6A-DT DENND6A divergent transcript non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 Divergent transcripts 1990 2017-08-03 2017-08-03 101929159 ENSG00000241933 OTTHUMG00000158637 BC044922 NR_135550 HGNC:51592 +HGNC:32690 DENND6B DENN domain containing 6B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "MGC33692|AFI1B" FAM116B "family with sequence similarity 116, member B|DENN/MADD domain containing 6B" DENN domain containing 504 2006-04-07 2012-10-03 2016-02-12 2016-02-12 414918 ENSG00000205593 OTTHUMG00000150210 uc011arv.2 AK054743 NM_001001794 CCDS46732 Q8NEG7 21330364 MGI:1916690 RGD:1308012 HGNC:32690 "ENST00000413817.8|NM_001001794.4" +HGNC:31793 DENND10 DENN domain containing 10 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 FAM45A "family with sequence similarity 45, member A|family with sequence similarity 45 member A" DENN domain containing 504 2004-07-29 2019-06-14 2019-06-14 2019-06-14 404636 ENSG00000119979 OTTHUMG00000019143 uc001ldw.5 AF168713 NM_207009 CCDS7609 Q8TCE6 30771381 MGI:1915144 RGD:1308326 HGNC:31793 "ENST00000361432.3|NM_207009.4" +HGNC:30886 DENND10P1 DENND10 pseudogene 1 pseudogene pseudogene Approved Xq26.1 Xq26.1 HT011 "FAM45B|FAM45BP" "family with sequence similarity 45, member B|family with sequence similarity 45 member B, pseudogene" 2004-07-29 2019-06-14 2019-06-14 2021-10-07 55855 ENSG00000221930 OTTHUMG00000022399 AF220185 NR_027141 Q6NSW5 12477932 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM45B HGNC:30886 +HGNC:29472 DENND11 DENN domain containing 11 protein-coding gene gene with protein product Approved 7q34 07q34 LCHN KIAA1147 KIAA1147 DENN domain containing 504 2006-06-30 2019-06-14 2019-06-14 2019-06-14 57189 ENSG00000257093 OTTHUMG00000157539 uc003vwk.3 AB032973 NM_001080392 CCDS47726 A4D1U4 MGI:2444256 RGD:1563986 HGNC:29472 "ENST00000536163.6|NM_001080392.2" +HGNC:2769 DENR density regulated re-initiation and release factor protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "DRP|DRP1|SMAP-3" density-regulated protein 1999-06-17 2016-07-04 2016-07-04 8562 ENSG00000139726 OTTHUMG00000168844 uc001uda.4 AF038554 NM_003677 CCDS45003 O43583 "9628587|16982740|20713520|27239039" MGI:1915434 RGD:1584200 604550 HGNC:2769 "ENST00000280557.11|NM_003677.5" +HGNC:22949 DEPDC1 DEP domain containing 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "DEP.8|FLJ20354|SDP35|DEPDC1A" 2004-02-23 2019-08-30 55635 ENSG00000024526 OTTHUMG00000009212 uc001del.5 AK000361 NM_017779 "CCDS44159|CCDS644" Q5TB30 28602627 MGI:1923381 RGD:1306987 612002 HGNC:22949 "ENST00000456315.7|NM_001114120.3" +HGNC:50592 DEPDC1-AS1 DEPDC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.3-p31.2 01p31.3-p31.2 Antisense RNAs 1987 2014-05-22 2014-05-22 2018-02-13 101927220 ENSG00000234264 OTTHUMG00000009207 NR_110671 DEPDC1-AS1 HGNC:50592 +HGNC:24902 DEPDC1B DEP domain containing 1B protein-coding gene gene with protein product Approved 5q12.1 05q12.1 "XTP1|BRCC3" breast cancer cell 3 2004-06-04 2016-10-05 55789 ENSG00000035499 OTTHUMG00000097083 uc003jsh.4 AF303178 NM_018369 "CCDS3977|CCDS47214" Q8WUY9 25458010 MGI:2145425 RGD:1305799 616073 HGNC:24902 "ENST00000265036.10|NM_018369.3" +HGNC:31125 DEPDC1P1 DEP domain containing 1 pseudogene 1 pseudogene pseudogene Approved 15q13.3 15q13.3 2008-01-31 2020-04-07 730888 ENSG00000259358 OTTHUMG00000172235 XR_015306 PGOHUM00000292886 HGNC:31125 +HGNC:33975 DEPDC1P2 DEP domain containing 1 pseudogene 2 pseudogene pseudogene Approved 9q31.2 09q31.2 2008-01-31 2020-04-06 100126446 ENSG00000232486 OTTHUMG00000020430 NG_007042 PGOHUM00000304432 HGNC:33975 +HGNC:22952 DEPDC4 DEP domain containing 4 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "DEP.4|FLJ33505" 2004-02-23 2016-10-05 120863 ENSG00000166153 OTTHUMG00000170318 uc001thi.4 AK090824 NM_152317 CCDS9075 Q8N2C3 12477932 HGNC:22952 "ENST00000550587.6|NM_001364818.2" +HGNC:18423 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit protein-coding gene gene with protein product Approved 22q12.2-q12.3 22q12.2-q12.3 "KIAA0645|DEP.5" DEP domain containing 5 GATOR1 subcomplex 1394 2004-05-05 2019-08-30 2021-05-26 9681 ENSG00000100150 OTTHUMG00000030926 uc003alt.4 AB014545 NM_014662 "CCDS43007|CCDS46692|CCDS74849|CCDS87018|CCDS56229|CCDS87017|CCDS43006" O75140 "23542697|23542701" MGI:2141101 RGD:1311535 614191 353372 HGNC:18423 "ENST00000651528.2|NM_001242896.3" HGNC:18423 +HGNC:29899 DEPDC7 DEP domain containing 7 protein-coding gene gene with protein product Approved 11p13 11p13 2006-03-24 2019-08-30 91614 ENSG00000121690 OTTHUMG00000166242 uc001mub.3 NM_139160 "CCDS41633|CCDS41632" Q96QD5 "10568747|29344171" MGI:2139258 RGD:1309720 612294 HGNC:29899 "ENST00000241051.8|NM_001077242.2" +HGNC:23355 DEPP1 DEPP1 autophagy regulator protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "DEPP|FIG|Fseg" "decidual protein induced by progesterone|fasting induced|fat-specific expressed gene" C10orf10 chromosome 10 open reading frame 10 2003-11-12 2017-10-30 2019-01-21 2019-01-21 11067 ENSG00000165507 OTTHUMG00000018063 uc001jbr.5 AB022718 NM_007021 CCDS7210 Q9NTK1 "28545464|24530860|19937567|16123073" MGI:1918730 RGD:1565700 611309 HGNC:23355 "ENST00000298295.4|NM_007021.4" +HGNC:22953 DEPTOR DEP domain containing MTOR interacting protein protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "DEP.6|FLJ12428" DEPDC6 DEP domain containing 6 PDZ domain containing 1220 2004-02-23 2010-12-08 2016-12-02 2016-12-02 64798 ENSG00000155792 OTTHUMG00000165052 uc003yow.6 NM_022783 "CCDS6331|CCDS64960" Q8TB45 19446321 MGI:2146322 RGD:1561030 612974 HGNC:22953 "ENST00000286234.6|NM_022783.4" +HGNC:55602 DEPTOR-AS1 DEPTOR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.12 08q24.12 Antisense RNAs 1987 2021-06-07 2021-06-07 121676927 ENSG00000245330 +HGNC:24269 DERA deoxyribose-phosphate aldolase protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "CGI-26|DEOC" 2-deoxyribose-5-phosphate aldolase homolog (C. elegans) 2004-12-07 2016-03-08 2016-03-08 51071 ENSG00000023697 OTTHUMG00000165537 uc001rde.4 AF132960 NM_015954 "CCDS44838|CCDS73451" Q9Y315 "12546782|25229427" MGI:1913762 RGD:1589836 619668 4.1.2.4 HGNC:24269 "ENST00000428559.7|NM_015954.4" +HGNC:28454 DERL1 derlin 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MGC3067|PRO2577|FLJ13784|DER1|DER-1|derlin-1" Der1-like domain family, member 1 Rhomboid family 926 2004-11-02 2012-02-01 2012-02-01 79139 ENSG00000136986 OTTHUMG00000165080 uc003ypl.3 BC002457 NM_024295 "CCDS6337|CCDS47915|CCDS83319" Q9BUN8 "12975309|15215855" MGI:1915069 RGD:1311835 608813 HGNC:28454 "ENST00000259512.9|NM_024295.6" +HGNC:17943 DERL2 derlin 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "F-LAN-1|FLANa|F-LANa|CGI-101|derlin-2" Der1-like domain family, member 2 Rhomboid family 926 2004-11-02 2012-02-01 2014-11-19 51009 ENSG00000072849 OTTHUMG00000102040 uc002gcc.2 BC010890 NM_016041 "CCDS11073|CCDS76927" Q9GZP9 "10810093|11500051" MGI:2151483 RGD:6496100 610304 HGNC:17943 "ENST00000158771.9|NM_016041.5" +HGNC:14236 DERL3 derlin 3 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "FLJ43842|MGC71803|derlin-3|IZP6" C22orf14 "chromosome 22 open reading frame 14|Der1-like domain family, member 3" Rhomboid family 926 2001-02-14 2004-11-02 2012-02-01 2014-11-19 91319 ENSG00000099958 OTTHUMG00000150743 uc002zyh.4 AB049213 NM_198440 "CCDS46672|CCDS33615|CCDS42986" Q96Q80 15215855 MGI:1917627 RGD:1597373 610305 HGNC:14236 "ENST00000318109.12|NM_001002862.3" +HGNC:54084 DERPC DERPC proline and glycine rich nuclear protein protein-coding gene gene with protein product Approved 16q22.1 16q22.1 decreased expression in renal and prostate cancer 2018-11-21 2019-01-22 2021-06-14 113455421 ENSG00000286140 NM_001366603 P0CG12 12477976 HGNC:54084 "ENST00000519520.7|NM_001002847.4" +HGNC:2770 DES desmin protein-coding gene gene with protein product Approved 2q35 02q35 "CMD1I|CSM1|CSM2" intermediate filament protein Intermediate filaments Type III 610 2001-06-22 2021-04-13 1674 ENSG00000175084 OTTHUMG00000058924 uc002vll.3 AF521879 NM_001927 CCDS33383 P17661 "2673923|9736733" MGI:94885 RGD:620686 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DES|LRG_380|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_380.xml" 125660 121053 HGNC:2770 HGNC:2770 "ENST00000373960.4|NM_001927.4" HGNC:2770 +HGNC:24577 DESI1 desumoylating isopeptidase 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "D15Wsu75e|DESI-1|POST" polyubiquitinated substrate transporter "FAM152B|PPPDE2" "family with sequence similarity 152, member B|PPPDE peptidase domain containing 2" Desumoylating isopeptidases 986 2008-01-09 2012-05-16 2012-05-16 2020-06-18 27351 ENSG00000100418 OTTHUMG00000044632 uc003bam.3 AF038183 NM_015704 CCDS33652 Q6ICB0 "8619474|9110174|22370726" MGI:106313 RGD:1305776 614637 HGNC:24577 "ENST00000263256.7|NM_015704.3" +HGNC:24264 DESI2 desumoylating isopeptidase 2 protein-coding gene gene with protein product Approved 1q44 01q44 "CGI-146|FLJ21998|PNAS-4|DESI-2" "C1orf121|FAM152A|PPPDE1" "chromosome 1 open reading frame 121|family with sequence similarity 152, member A|PPPDE peptidase domain containing 1" Desumoylating isopeptidases 986 2005-06-21 2012-05-16 2012-05-16 2020-06-18 51029 ENSG00000121644 OTTHUMG00000040398 uc001iao.4 AK025651 NM_016076 "CCDS1626|CCDS73055" Q9BSY9 "10810093|22370726" MGI:1926075 RGD:1359392 614638 HGNC:24264 "ENST00000302550.16|NM_016076.5" +HGNC:25477 DET1 DET1 partner of COP1 E3 ubiquitin ligase protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FLJ10103 "de-etiolated homolog 1 (Arabidopsis)|DET1, COP1 ubiquitin ligase partner" 2004-12-13 2019-01-25 2019-01-25 55070 ENSG00000140543 OTTHUMG00000171851 uc002bmr.3 BC001242 NM_017996 "CCDS45344|CCDS45343" Q7L5Y6 14739464 MGI:1923625 RGD:1309793 608727 HGNC:25477 "ENST00000268148.13|NM_001144074.3" +HGNC:26344 DEUP1 deuterosome assembly protein 1 protein-coding gene gene with protein product Approved 11q21 11q21 FLJ25393 CCDC67 coiled-coil domain containing 67 2006-02-06 2016-06-29 2016-06-29 2016-11-16 159989 ENSG00000165325 OTTHUMG00000167441 uc001pdq.5 AK058122 NM_181645 CCDS44707 Q05D60 24240477 MGI:2443026 RGD:1306632 617148 HGNC:26344 "ENST00000298050.9|NM_181645.4" +HGNC:13267 DEXI Dexi homolog protein-coding gene gene with protein product Approved 16p13.13 16p13.13 MYLE dexamethasone-induced transcript Dexi homolog (mouse) 2009-08-13 2016-03-31 2016-03-31 28955 ENSG00000182108 OTTHUMG00000129785 uc002dal.4 AF108145 NM_014015 CCDS10545 O95424 "11306815|11472984" MGI:1926236 RGD:1564938 617901 HGNC:13267 "ENST00000331808.5|NM_014015.4" +HGNC:2772 DFFA DNA fragmentation factor subunit alpha protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "DFF-45|DFF45|ICAD|DFF1" DNA fragmentation factor, 45 kD, alpha subunit "DNA fragmentation factor, 45 kD, alpha polypeptide|DNA fragmentation factor, 45kDa, alpha polypeptide" 1997-10-27 2016-02-03 2016-10-05 1676 ENSG00000160049 OTTHUMG00000001909 uc001arj.4 AF087573 NM_004401 "CCDS119|CCDS118" O00273 "9605855|9108473" MGI:1196227 RGD:620334 601882 HGNC:2772 "ENST00000377038.8|NM_004401.3" +HGNC:2773 DFFB DNA fragmentation factor subunit beta protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "CAD|CPAN|DFF-40|DFF40" caspase-activated DNase DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) 1997-10-27 2016-02-03 2016-10-05 1677 ENSG00000169598 OTTHUMG00000003525 uc001alc.5 NM_001282669 "CCDS52|CCDS72693" O76075 "9108473|9560346" MGI:1196287 RGD:620335 601883 HGNC:2773 "ENST00000378209.8|NM_004402.4" +HGNC:49815 DFFBP1 DNA fragmentation factor subunit beta pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 DNA fragmentation factor, 40kDa, beta polypeptide pseudogene 1 2014-03-06 2016-02-03 2016-02-03 100422581 ENSG00000232303 OTTHUMG00000019745 NG_023797 PGOHUM00000236007 HGNC:49815 +HGNC:2843 DGAT1 diacylglycerol O-acyltransferase 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 ARGP1 DGAT diacylglycerol O-acyltransferase (mouse) homolog MicroRNA protein coding host genes 1691 1998-11-11 2001-11-09 2010-06-24 2021-05-26 8694 ENSG00000185000 OTTHUMG00000174606 uc003zbv.5 AF059202 NM_012079 CCDS6420 O75907 9756920 MGI:1333825 RGD:628673 604900 331710 objectId:2821 2.3.1.20 HGNC:2843 "ENST00000528718.6|NM_012079.6" HGNC:2843 +HGNC:16940 DGAT2 diacylglycerol O-acyltransferase 2 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 diacylglycerol O-acyltransferase homolog 2 (mouse) Diacylglycerol O-acyltransferase 2 family 1235 2001-11-19 2010-06-24 2016-10-05 84649 ENSG00000062282 OTTHUMG00000165338 uc001oxa.4 NM_032564 "CCDS58162|CCDS31642" Q96PD7 "11481335|14970677" MGI:1915050 RGD:620329 606983 HGNC:16940 "ENST00000228027.12|NM_032564.5" HGNC:16940 +HGNC:27451 DGAT2-DT DGAT2 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.5 11q13.5 Divergent transcripts 1990 2021-04-26 2021-04-26 283214 ENSG00000247867 NR_046090 +HGNC:23250 DGAT2L6 diacylglycerol O-acyltransferase 2 like 6 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "DC3|FLJ25989" Diacylglycerol O-acyltransferase 2 family 1235 2006-01-31 2016-03-14 2016-03-14 347516 ENSG00000184210 OTTHUMG00000021774 uc004dxx.2 AK129500 NM_198512 CCDS14397 Q6ZPD8 15671038 MGI:3045268 RGD:1596935 300926 HGNC:23250 "ENST00000333026.4|NM_198512.3" +HGNC:44367 DGAT2L7P diacylglycerol O-acyltransferase 2 like 7, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 Diacylglycerol O-acyltransferase 2 family 1235 2012-09-06 2016-03-14 2016-03-14 646409 ENSG00000205267 NG_033274 14970677 HGNC:44367 +HGNC:2844 DGCR DiGeorge syndrome chromosome region other region Approved 22q11.21-q11.23 22q11.21-q11.23 CATCH22 2001-06-22 2012-10-02 1714 +HGNC:2845 DGCR2 DiGeorge syndrome critical region gene 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "KIAA0163|LAN|IDD|DGS-C|SEZ-12" integral membrane protein DGCR2 C-type lectin domain containing 1298 2000-07-28 2015-09-11 9993 ENSG00000070413 OTTHUMG00000150141 uc062bkn.1 D79985 NM_005137 "CCDS33598|CCDS54496" P98153 "7655455|8630060" MGI:892866 RGD:1310567 600594 HGNC:2845 "ENST00000263196.12|NM_005137.3" HGNC:2845 +HGNC:16757 DGCR5 DiGeorge syndrome critical region gene 5 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 "NCRNA00037|LINC00037|X91348|DGS-A|POM121L5P|DGS-B" "non-protein coding RNA 37|long intergenic non-protein coding RNA 37" "DGCR9|DGCR10" "DiGeorge syndrome critical region gene 5 (non-protein coding)|DiGeorge syndrome critical region gene 9|DiGeorge syndrome critical region gene 9 (non-protein coding)|DiGeorge syndrome critical region gene 10|DiGeorge syndrome critical region gene 10 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-04-22 2018-05-16 2021-11-12 26220 ENSG00000273032 OTTHUMG00000149977 uc002zon.3 X91348 NR_002733 "8659529|27898409|29030962" 618040 DGCR5 HGNC:16757 +HGNC:2846 DGCR6 DiGeorge syndrome critical region gene 6 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2000-07-28 2018-04-03 8214 ENSG00000183628 OTTHUMG00000150162 uc002zoh.4 X96484 NM_005675 CCDS13753 Q14129 "8733130|15821931" MGI:1202877 RGD:1309390 601279 HGNC:2846 "ENST00000331444.12|NM_005675.6" +HGNC:18551 DGCR6L DiGeorge syndrome critical region gene 6 like protein-coding gene gene with protein product Approved 22q11.21 22q11.21 FLJ10666 2002-05-08 2017-02-21 2018-12-14 85359 ENSG00000128185 OTTHUMG00000150583 uc002zrx.4 AF228708 NM_033257 CCDS13778 Q9BY27 "11157784|19778628" MGI:1202877 609459 HGNC:18551 "ENST00000248879.8|NM_033257.4" +HGNC:2847 DGCR8 DGCR8 microprocessor complex subunit protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "DGCRK6|Gy1|pasha" C22orf12 "chromosome 22 open reading frame 12|DiGeorge syndrome critical region gene 8|DGCR8, microprocessor complex subunit" MicroRNA protein coding host genes 1691 2000-06-29 2019-01-25 2019-01-25 54487 ENSG00000128191 OTTHUMG00000150503 uc002zri.4 "AF165527|AB050770" NM_001190326 "CCDS54501|CCDS13773" Q8WYQ5 21454614 MGI:2151114 RGD:1306365 609030 HGNC:2847 "ENST00000351989.8|NM_022720.7" +HGNC:17226 DGCR11 DiGeorge syndrome critical region gene 11 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 DGS-D "DiGeorge syndrome critical region gene 11|DiGeorge syndrome critical region gene 11 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-11-13 2018-05-16 2018-05-16 25786 ENSG00000273311 OTTHUMG00000186100 uc002zos.2 L77561 NR_024157 8776594 HGNC:17226 +HGNC:2849 DGKA diacylglycerol kinase alpha protein-coding gene gene with protein product Approved 12q13.2 12q13.2 DGK-alpha "DAGK|DAGK1" "diacylglycerol kinase, alpha (80kD)|diacylglycerol kinase, alpha 80kDa" "EF-hand domain containing|Diacylglycerol kinases" "863|1178" 1991-08-21 2015-11-09 2016-10-05 1606 ENSG00000065357 OTTHUMG00000170109 uc001sij.4 AF064767 NM_001345 CCDS8896 P23743 "8180475|7959783" MGI:102952 RGD:70904 125855 2.7.1.107 HGNC:2849 "ENST00000331886.10|NM_001345.5" +HGNC:2850 DGKB diacylglycerol kinase beta protein-coding gene gene with protein product Approved 7p21.2 07p21.2 "KIAA0718|DGK|DGK-BETA" DAGK2 "diacylglycerol kinase, beta (90kD)|diacylglycerol kinase, beta 90kDa" "EF-hand domain containing|Diacylglycerol kinases" "863|1178" 2004-10-20 2015-11-09 2015-11-09 1607 ENSG00000136267 OTTHUMG00000152477 uc064bqu.1 AB018261 NM_004080 "CCDS47548|CCDS47547|CCDS87481|CCDS87480" Q9Y6T7 7689223 MGI:2442474 RGD:2488 604070 2.7.1.107 HGNC:2850 "ENST00000402815.6|NM_001350709.2" +HGNC:2851 DGKD diacylglycerol kinase delta protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "KIAA0145|DGKdelta" diglyceride kinase "diacylglycerol kinase, delta (130kD)|diacylglycerol kinase, delta 130kDa" "Pleckstrin homology domain containing|Sterile alpha motif domain containing|Diacylglycerol kinases" "682|760|1178" 1998-10-02 2015-11-09 2016-10-05 8527 ENSG00000077044 OTTHUMG00000133290 uc002vui.2 D63479 NM_003648 "CCDS2504|CCDS46546" Q16760 "8626538|12810723" MGI:2138334 RGD:1563309 601826 HGNC:2851 "ENST00000264057.7|NM_152879.3" +HGNC:2852 DGKE diacylglycerol kinase epsilon protein-coding gene gene with protein product Approved 17q22 17q22 "DAGK6|DGK" "diacylglycerol kinase, epsilon (64kD)|diacylglycerol kinase, epsilon 64kDa" Diacylglycerol kinases 1178 1998-10-02 2015-11-09 2019-08-21 8526 ENSG00000153933 OTTHUMG00000178121 uc002iur.4 U49379 NM_003647 CCDS11590 P52429 "8626589|10051413" MGI:1889276 RGD:1560914 601440 330780 2.7.1.107 HGNC:2852 "ENST00000284061.8|NM_003647.3" HGNC:2852 +HGNC:2853 DGKG diacylglycerol kinase gamma protein-coding gene gene with protein product Approved 3q27.2-q27.3 03q27.2-q27.3 DAGK3 "diacylglycerol kinase, gamma (90kD)|diacylglycerol kinase, gamma 90kDa" "EF-hand domain containing|Diacylglycerol kinases" "863|1178" 1994-09-06 2015-11-09 2018-02-13 1608 ENSG00000058866 OTTHUMG00000156617 uc003fqa.4 AF020945 NM_001080744 "CCDS43182|CCDS3274|CCDS43181" P49619 8034597 MGI:105060 RGD:2499 601854 2.7.1.107 HGNC:2853 "ENST00000265022.8|NM_001346.3" +HGNC:2854 DGKH diacylglycerol kinase eta protein-coding gene gene with protein product Approved 13q14.11 13q14.11 DGKeta "Pleckstrin homology domain containing|Sterile alpha motif domain containing|Diacylglycerol kinases" "682|760|1178" 2004-04-16 2016-01-14 2016-10-05 160851 ENSG00000102780 OTTHUMG00000016804 uc001uyl.3 AB078967 NM_178009 "CCDS9381|CCDS55898|CCDS55899|CCDS9382" Q86XP1 8702685 MGI:2444188 RGD:1561955 604071 HGNC:2854 "ENST00000337343.9|NM_178009.5" +HGNC:2855 DGKI diacylglycerol kinase iota protein-coding gene gene with protein product Approved 7q33 07q33 DGK-IOTA "Ankyrin repeat domain containing|Diacylglycerol kinases" "403|1178" 1998-12-01 2016-01-14 2016-10-05 9162 ENSG00000157680 OTTHUMG00000155697 uc003vtt.4 AF061936 NM_004717 "CCDS83227|CCDS5845" O75912 9830018 MGI:2443430 RGD:735049 604072 HGNC:2855 "ENST00000614521.2|NM_001321708.2" +HGNC:32395 DGKK diacylglycerol kinase kappa protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 Diacylglycerol kinases 1178 2005-11-25 2016-01-14 2016-01-14 139189 ENSG00000274588 OTTHUMG00000021520 uc033edr.2 AB183864 NM_001013742 CCDS75980 Q5KSL6 16210324 MGI:3580254 RGD:1561510 300837 HGNC:32395 "ENST00000611977.2|NM_001013742.4" +HGNC:2856 DGKQ diacylglycerol kinase theta protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "DAGK|DAGK7" DAGK4 "diacylglycerol kinase, theta (110kD)|diacylglycerol kinase, theta 110kDa" Diacylglycerol kinases 1178 1996-06-26 2015-11-09 2015-11-09 1609 ENSG00000145214 OTTHUMG00000088629 uc003gbw.5 L38707 NM_001347 CCDS3342 P52824 "8617502|9099683" MGI:102918 RGD:2320722 601207 HGNC:2856 "ENST00000273814.8|NM_001347.4" +HGNC:2857 DGKZ diacylglycerol kinase zeta protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DAGK5|hDGKzeta|DGK-ZETA|DAGK6" diacylglycerol kinase, zeta 104kDa "Ankyrin repeat domain containing|Diacylglycerol kinases|MicroRNA protein coding host genes" "403|1178|1691" 1998-10-02 2016-01-14 2016-04-25 8525 ENSG00000149091 OTTHUMG00000166437 uc001nch.2 U51477 NM_001105540 "CCDS55759|CCDS44579|CCDS44580|CCDS55757|CCDS7918|CCDS41640|CCDS55758" Q13574 8626588 MGI:1278339 RGD:70929 601441 2.7.1.107 HGNC:2857 +HGNC:39263 DGKZP1 diacylglycerol kinase zeta pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 2010-11-24 2016-01-14 2016-01-14 400126 ENSG00000179611 OTTHUMG00000016825 NG_005323 PGOHUM00000248578 HGNC:39263 +HGNC:20498 DGLUCY D-glutamate cyclase protein-coding gene gene with protein product Approved 14q32.11 14q32.11 FLJ39975 C14orf159 chromosome 14 open reading frame 159 Small nucleolar RNA protein coding host genes 1835 2003-10-02 2017-07-20 2017-07-20 2017-08-17 80017 ENSG00000133943 OTTHUMG00000164980 uc001xzb.4 AK097294 NM_024952 "CCDS45150|CCDS73677|CCDS41979|CCDS32141|CCDS66693" Q7Z3D6 "27907125|28266638" MGI:2444813 RGD:1311756 HGNC:20498 "ENST00000256324.15|NM_001102368.3" +HGNC:2858 DGUOK deoxyguanosine kinase protein-coding gene gene with protein product Approved 2p13.1 02p13.1 dGK Deoxyribonucleoside kinases 1699 1996-07-17 2021-08-12 1716 ENSG00000114956 OTTHUMG00000129819 uc002sjx.3 U41668 NM_001318859 "CCDS1931|CCDS1932" Q16854 8975728 MGI:1351602 RGD:1304799 601465 121059 2.7.1.113 HGNC:2858 "ENST00000264093.9|NM_080916.3" HGNC:2858 +HGNC:43441 DGUOK-AS1 DGUOK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p13.1 02p13.1 DGUOK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-10-28 2012-08-15 2012-10-12 100874048 ENSG00000237883 OTTHUMG00000152820 uc061ksa.1 NR_104029 DGUOK-AS1 HGNC:43441 +HGNC:2860 DHCR7 7-dehydrocholesterol reductase protein-coding gene gene with protein product Approved 11q13.4 11q13.4 SLOS Smith-Lemli-Opitz syndrome 1998-04-27 2004-02-13 2021-05-26 1717 ENSG00000172893 OTTHUMG00000167346 uc001oql.4 AF034544 NM_001360 CCDS8200 Q9UBM7 "9465114|9634533" MGI:1298378 RGD:621769 LRG_340|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_340.xml 602858 121066 1.3.1.21 HGNC:2860 "ENST00000355527.8|NM_001360.3" HGNC:2860 +HGNC:2859 DHCR24 24-dehydrocholesterol reductase protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "KIAA0018|seladin-1" Delta(24)-sterol reductase DCE desmosterol-to-cholesterol enzyme 1998-04-27 2021-04-13 1718 ENSG00000116133 OTTHUMG00000009989 uc001cyc.2 AF261758 NM_014762 CCDS600 Q15392 11519011 MGI:1922004 RGD:1306529 LRG_1272|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1272.xml 606418 121062 1.3.1.72 HGNC:2859 "ENST00000371269.9|NM_014762.4" HGNC:2859 +HGNC:53969 DHCR24-DT DHCR24 divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Divergent transcripts 1990 2018-07-13 2018-07-13 107984958 ENSG00000233203 OTTHUMG00000009988 XR_001738059 HGNC:53969 +HGNC:20603 DHDDS dehydrodolichyl diphosphate synthase subunit protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "HDS|FLJ13102|DS|RP59|hCIT" dehydrodolichyl diphosphate synthase Dehydrodolichyl diphosphate synthase 1733 2003-05-22 2015-06-26 2019-01-22 79947 ENSG00000117682 OTTHUMG00000003554 uc001bmk.4 AK023164 NM_024887 "CCDS281|CCDS57983|CCDS282|CCDS57984" Q86SQ9 "12591616|28842490" MGI:1914672 RGD:1311560 608172 259361 HGNC:20603 "ENST00000236342.12|NM_205861.3" HGNC:20603 +HGNC:40925 DHDDS-AS1 DHDDS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Antisense RNAs 1987 2019-07-25 2019-07-25 101928324 ENSG00000225891 OTTHUMG00000003552 NR_125952 HGNC:40925 +HGNC:17887 DHDH dihydrodiol dehydrogenase protein-coding gene gene with protein product Approved 19q13.33 19q13.33 HUM2DD trans-1,2-dihydrobenzene-1,2-diol dehydrogenase 2002-01-31 2016-02-15 2016-10-05 27294 ENSG00000104808 OTTHUMG00000165029 uc002ple.1 AB021933 NM_014475 CCDS12741 Q9UQ10 10477285 MGI:1919005 RGD:1588686 606377 1.3.1.20 HGNC:17887 "ENST00000221403.7|NM_014475.4" +HGNC:2861 DHFR dihydrofolate reductase protein-coding gene gene with protein product Approved 5q14.1 05q14.1 2001-06-22 2021-05-26 1719 ENSG00000228716 OTTHUMG00000162529 uc003kgy.2 NM_000791 "CCDS78028|CCDS47240|CCDS78029" P00374 MGI:94890 RGD:2500 126060 159526 objectId:2603 1.5.1.3 HGNC:2861 "ENST00000439211.7|NM_000791.4" HGNC:2861 +HGNC:27309 DHFR2 dihydrofolate reductase 2 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 FLJ16119 "DHFRP4|DHFRL1" "dihydrofolate reductase pseudogene 4|dihydrofolate reductase-like 1|dihydrofolate reductase like 1" 2005-02-07 2016-06-28 2016-06-28 2017-11-28 200895 ENSG00000178700 OTTHUMG00000159014 uc003drj.4 AL832912 NM_176815 CCDS2926 Q86XF0 "21876184|25980602" MGI:94890 616588 1.5.1.3 HGNC:27309 "ENST00000314636.3|NM_176815.5" +HGNC:2862 DHFRP1 dihydrofolate reductase pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 hDHFR-psi 3 2001-06-22 2020-04-21 573971 ENSG00000188985 OTTHUMG00000179427 J00141 NG_000858 "6306253|6089182" MGI:94890 HGNC:2862 +HGNC:2863 DHFRP2 dihydrofolate reductase pseudogene 2 pseudogene pseudogene Approved 6p21.33 06p21.33 hDHFR-psi 2 2001-06-22 2020-04-20 729816 ENSG00000228432 OTTHUMG00000031113 J00145 XR_015665.1 "6089182|6961421|3341383" PGOHUM00000301326 HGNC:2863 +HGNC:52354 DHFRP3 dihydrofolate reductase pseudogene 3 pseudogene pseudogene Approved 2p12 02p12 hDHFR-psi 3 2016-07-28 2016-07-28 1720 ENSG00000168129 OTTHUMG00000152960 NR_033423 6526269 PGOHUM00000298487 HGNC:52354 +HGNC:52355 DHFRP5 dihydrofolate reductase pseudogene 5 pseudogene pseudogene Approved 6q11.1 06q11.1 2016-07-28 2016-07-28 100132056 ENSG00000216859 OTTHUMG00000014937 NG_022305 PGOHUM00000301406 HGNC:52355 +HGNC:52356 DHFRP6 dihydrofolate reductase pseudogene 6 pseudogene pseudogene Approved 6p12.1 06p12.1 2016-07-28 2020-04-06 109729123 ENSG00000219095 OTTHUMG00000014905 NG_052919 PGOHUM00000301395 HGNC:52356 +HGNC:2865 DHH desert hedgehog signaling molecule protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "HHG-3|MGC35145" "desert hedgehog (Drosophila) homolog|desert hedgehog" Hedgehog signaling molecule family 1373 2000-04-28 2018-11-15 2021-04-13 50846 ENSG00000139549 OTTHUMG00000170408 uc001rtf.4 AB010994 NM_021044 CCDS8779 O43323 "10773676|10640830" MGI:94891 RGD:620711 LRG_1273|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1273.xml 605423 121069 C46.004 HGNC:2865 "ENST00000649637.2|NM_021044.4" HGNC:2865 +HGNC:2867 DHODH dihydroorotate dehydrogenase (quinone) protein-coding gene gene with protein product Approved 16q22.2 16q22.2 dihydroorotate dehydrogenase 1993-06-29 2011-09-05 2021-05-26 1723 ENSG00000102967 OTTHUMG00000178093 uc002fbp.4 NM_001361 CCDS42192 Q02127 8211381 MGI:1928378 RGD:68352 126064 225386 objectId:2604 1.3.5.2 HGNC:2867 "ENST00000219240.9|NM_001361.5" HGNC:2867 +HGNC:2869 DHPS deoxyhypusine synthase protein-coding gene gene with protein product Approved 19p13.13 19p13.13 MIG13 migration-inducing gene 13 1995-12-12 2021-05-26 1725 ENSG00000095059 OTTHUMG00000182618 uc002muh.3 U79262 NM_001930 "CCDS59354|CCDS12276|CCDS12277" P49366 7673224 MGI:2683592 RGD:1303326 600944 HGNC:2869 "ENST00000210060.12|NM_001930.4" HGNC:2869 +HGNC:16445 DHRS1 dehydrogenase/reductase 1 protein-coding gene gene with protein product Approved 14q12 14q12 "FLJ25430|MGC20204|SDR19C1" short chain dehydrogenase/reductase family 19C, member 1 dehydrogenase/reductase (SDR family) member 1 Short chain dehydrogenase/reductase superfamily 743 2003-06-16 2016-05-27 2016-10-05 115817 ENSG00000157379 OTTHUMG00000029333 uc001wok.3 AK058159 NM_138452 CCDS9623 Q96LJ7 "12153138|19027726" MGI:1196314 RGD:1359172 610410 1.1.-.- HGNC:16445 "ENST00000288111.12|NM_001136050.3" +HGNC:18349 DHRS2 dehydrogenase/reductase 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "HEP27|SDR25C1" short chain dehydrogenase/reductase family 25C, member 1 dehydrogenase/reductase (SDR family) member 2 Short chain dehydrogenase/reductase superfamily 743 2002-04-26 2016-05-27 2016-05-27 10202 ENSG00000100867 OTTHUMG00000028771 uc001wku.5 NM_182908 "CCDS9604|CCDS41927" Q13268 "7556196|11944995|16685466|19027726" MGI:1918662 RGD:1583909 615194 HGNC:18349 "ENST00000250383.11|NM_005794.4" +HGNC:17693 DHRS3 dehydrogenase/reductase 3 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "retSDR1|Rsdr1|SDR1|RDH17|SDR16C1" short chain dehydrogenase/reductase family 16C, member 1 dehydrogenase/reductase (SDR family) member 3 "Short chain dehydrogenase/reductase superfamily|MicroRNA protein coding host genes" "743|1691" 2003-12-02 2016-05-27 2016-10-05 9249 ENSG00000162496 OTTHUMG00000001885 uc031tpa.2 AF061741 NM_004753 CCDS146 O75911 "9705317|12226107|19027726" MGI:1315215 RGD:1305584 612830 1.1.1.300 HGNC:17693 "ENST00000616661.5|NM_004753.7" +HGNC:16985 DHRS4 dehydrogenase/reductase 4 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "SCAD-SRL|SDR-SRL|humNRDR|FLJ11008|SDR25C2" short chain dehydrogenase/reductase family 25C, member 2 dehydrogenase/reductase (SDR family) member 4 Short chain dehydrogenase/reductase superfamily 743 2002-12-09 2016-05-27 2016-05-27 10901 ENSG00000157326 OTTHUMG00000028777 uc001wla.5 AF044127 NM_001282987 "CCDS61410|CCDS9605|CCDS61412|CCDS61411|CCDS61408|CCDS61409" Q9BTZ2 "10333503|19027726" MGI:90169 RGD:708482 611596 1.1.1.184 HGNC:16985 "ENST00000313250.10|NM_021004.4" +HGNC:23175 DHRS4-AS1 DHRS4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 "PRO1488|AS1DHRS4" C14orf167 "chromosome 14 open reading frame 167|DHRS4 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-09-29 2012-04-30 2012-08-16 2016-12-01 55449 ENSG00000215256 OTTHUMG00000171901 uc001wky.4 AF116636 NR_023921 Q9P1J3 "22891334|26864944" 616925 dhrs4-as1 DHRS4-AS1 HGNC:23175 +HGNC:19732 DHRS4L1 dehydrogenase/reductase 4 like 1 (pseudogene) pseudogene pseudogene Approved 14q11.2 14q11.2 SDR25C4 short chain dehydrogenase/reductase family 25C, member 4 "dehydrogenase/reductase (SDR family) member 4 like 1|dehydrogenase/reductase 4 like 1" Short chain dehydrogenase/reductase superfamily 743 2003-01-13 2021-03-05 2021-03-05 728635 ENSG00000225766 OTTHUMG00000172193 NR_102687 P0CG22 "10333503|20525226|22891334" MGI:90169 615195 HGNC:19732 +HGNC:19731 DHRS4L2 dehydrogenase/reductase 4 like 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 SDR25C3 short chain dehydrogenase/reductase family 25C, member 3 dehydrogenase/reductase (SDR family) member 4 like 2 Short chain dehydrogenase/reductase superfamily 743 2003-01-13 2016-05-27 2016-05-27 317749 ENSG00000187630 OTTHUMG00000028778 uc058zud.1 NM_001193635 "CCDS86376|CCDS9606|CCDS73621" Q6PKH6 MGI:90169 615196 1.1.-.- HGNC:19731 "ENST00000335125.11|NM_198083.4" +HGNC:21524 DHRS7 dehydrogenase/reductase 7 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "retDSR4|SDR34C1" "retinal short-chain dehydrogenase/reductase 4|short chain dehydrogenase/reductase family 34C, member 1" dehydrogenase/reductase (SDR family) member 7 Short chain dehydrogenase/reductase superfamily 743 2003-12-02 2016-05-27 2016-05-27 51635 ENSG00000100612 OTTHUMG00000140331 uc001xes.5 AF151844 NM_016029 "CCDS9743|CCDS81810" Q9Y394 "10800688|10810093|19027726" MGI:1913625 RGD:1565002 612833 HGNC:21524 "ENST00000557185.6|NM_016029.4" +HGNC:24547 DHRS7B dehydrogenase/reductase 7B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DKFZp566O084|MGC8916|CGI-93|SDR32C1" short chain dehydrogenase/reductase family 32C, member 1 dehydrogenase/reductase (SDR family) member 7B Short chain dehydrogenase/reductase superfamily 743 2005-12-15 2016-05-27 2016-10-05 25979 ENSG00000109016 OTTHUMG00000178944 uc002gyo.4 BC004126 NM_015510 "CCDS11215|CCDS82092" Q6IAN0 "10810093|11230166|19027726" MGI:2384931 RGD:1311243 616160 HGNC:24547 "ENST00000395511.8|NM_015510.5" +HGNC:32423 DHRS7C dehydrogenase/reductase 7C protein-coding gene gene with protein product Approved 17p13.1 17p13.1 SDR32C2 short chain dehydrogenase/reductase family 32C, member 2 dehydrogenase/reductase (SDR family) member 7C Short chain dehydrogenase/reductase superfamily 743 2005-12-15 2016-05-27 2018-11-15 201140 ENSG00000184544 OTTHUMG00000177944 uc010vvb.2 NM_001220493 "CCDS56020|CCDS58517" A6NNS2 19027726 MGI:1915710 RGD:1306989 616161 HGNC:32423 "ENST00000571134.2|NM_001105571.3" +HGNC:16888 DHRS9 dehydrogenase/reductase 9 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "RDHL|3alpha-HSD|RETSDR8|RDH15|SDR9C4" "NADP-dependent retinol dehydrogenase/reductase|3-alpha hydroxysteroid dehydrogenase|retinol dehydrogenase homolog|short chain dehydrogenase/reductase family 9C, member 4" dehydrogenase/reductase (SDR family) member 9 Short chain dehydrogenase/reductase superfamily 743 2003-12-02 2016-05-27 2016-05-27 10170 ENSG00000073737 OTTHUMG00000132180 uc061phg.1 AF067174 NM_005771 "CCDS2231|CCDS74600" Q9BPW9 "11304534|11294878|19027726" MGI:2442798 RGD:620655 612131 HGNC:16888 "ENST00000674881.1|NM_001376924.1" +HGNC:28639 DHRS11 dehydrogenase/reductase 11 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC4172|SDR24C1" short chain dehydrogenase/reductase family 24C, member 1 dehydrogenase/reductase (SDR family) member 11 Short chain dehydrogenase/reductase superfamily 743 2008-11-21 2016-05-27 2016-05-27 79154 ENSG00000278535 OTTHUMG00000188442 uc032ggx.3 NM_024308 CCDS11315 Q6UWP2 "12975309|19027726" MGI:2652816 RGD:1307935 616159 HGNC:28639 "ENST00000618403.5|NM_024308.4" +HGNC:25832 DHRS12 dehydrogenase/reductase 12 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "FLJ13639|SDR40C1" short chain dehydrogenase/reductase family 40C, member 1 dehydrogenase/reductase (SDR family) member 12 Short chain dehydrogenase/reductase superfamily 743 2006-08-08 2016-05-27 2016-05-27 79758 ENSG00000102796 OTTHUMG00000016952 uc001vfq.5 AK023701 NM_024705 "CCDS9430|CCDS58292|CCDS31976" A0PJE2 19027726 616163 HGNC:25832 "ENST00000444610.8|NM_001377533.1" +HGNC:28326 DHRS13 dehydrogenase/reductase 13 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "MGC23280|SDR7C5" short chain dehydrogenase/reductase family 7C, member 5 dehydrogenase/reductase (SDR family) member 13 Short chain dehydrogenase/reductase superfamily 743 2006-08-08 2016-05-27 2016-05-27 147015 ENSG00000167536 OTTHUMG00000132678 uc002hde.4 BC015582 NM_144683 CCDS11246 Q6UX07 "12975309|19027726" MGI:1917701 RGD:1305508 616157 1.1.-.- HGNC:28326 "ENST00000378895.9|NM_144683.4" +HGNC:18399 DHRSX dehydrogenase/reductase X-linked protein-coding gene gene with protein product Approved Xp22.33 and Yp11.2 Xp22.33 and Yp11.2 "DHRS5X|DHRSXY|DHRSY|DHRS5Y|SDR46C1|SDR7C6" "short chain dehydrogenase/reductase family 7C, member 6|short chain dehydrogenase/reductase family 46C, member 1|dehydrogenase/reductase (SDR family) Y-linked" dehydrogenase/reductase (SDR family) X chromosome Pseudoautosomal region 1 715 2002-03-18 2016-05-27 2016-05-27 207063 ENSG00000169084 OTTHUMG00000021068 uc004fps.5 AJ293620 NM_145177 CCDS35195 Q8N5I4 "11731500|19027726" MGI:2181510 RGD:1305017 301034 HGNC:18399 "ENST00000334651.11|NM_145177.3" +HGNC:38713 DHRSX-IT1 DHRSX intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xp22.33 and Yp11 Xp22.33 and Yp11 DHRSX-IT DHRSXIT1 DHRSX intronic transcript 1 (non-protein coding) "Pseudoautosomal region 1|Intronic transcripts" "715|1989" 2010-07-28 2011-03-23 2015-02-25 2015-02-25 106478924 ENSG00000223571 OTTHUMG00000067406 uc065coo.1 DHRSX-IT1 +HGNC:23537 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 protein-coding gene gene with protein product Approved 10p14 10p14 "KIAA1630|MGC3090|DKFZP762M115|CMT2Q" Oxoglutarate dehydrogenase family 1666 2003-11-24 2015-06-25 55526 ENSG00000181192 OTTHUMG00000017677 uc001ild.6 BC002477 NM_018706 CCDS7087 Q96HY7 10997877 MGI:2445096 RGD:1308092 614984 320765 HGNC:23537 "ENST00000263035.9|NM_018706.7" HGNC:23537 +HGNC:2749 DHX8 DEAH-box helicase 8 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "HRH1|PRP22|PRPF22|Dhr2" DDX8 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)|DEAH (Asp-Glu-Ala-His) box polypeptide 8" "DEAH-box helicases|SSU processome|Spliceosomal C complex|Spliceosomal P complex" "500|1484|1510|1516" 1995-12-20 2003-06-20 2016-01-07 2020-01-21 1659 ENSG00000067596 OTTHUMG00000180883 uc002idu.2 D50487 NM_001302623 "CCDS77040|CCDS11464" Q14562 7935475 MGI:1306823 RGD:1310723 600396 HGNC:2749 "ENST00000262415.8|NM_004941.3" +HGNC:2750 DHX9 DExH-box helicase 9 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 RHA "NDH II|RNA helicase A|leukophysin|nuclear DNA helicase II" "LKP|DDX9" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9|DEAH (Asp-Glu-Ala-His) box helicase 9" DEAH-box helicases 500 1995-12-11 2003-06-20 2016-09-27 2016-10-05 1660 ENSG00000135829 OTTHUMG00000035337 uc001gpr.4 L13848 NM_030588 CCDS41444 Q08211 "8344961|9111062" MGI:108177 RGD:1308548 603115 HGNC:2750 "ENST00000367549.4|NM_001357.5" +HGNC:56097 DHX9-AS1 DHX9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Antisense RNAs 1987 2022-01-05 2022-01-05 647070 ENSG00000287808 NR_148933 +HGNC:2751 DHX9P1 DEAH-box helicase 9 pseudogene 1 pseudogene pseudogene Approved 13q22.3 13q22.3 "DDX9P|DHX9P" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A) pseudogene|DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene|DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 1" 1997-01-08 2010-02-24 2016-01-07 2016-10-05 1661 ENSG00000228002 OTTHUMG00000017101 NG_002657 9325059 HGNC:2751 +HGNC:2738 DHX15 DEAH-box helicase 15 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "HRH2|DBP1|PRP43|PrPp43p|PRPF43" DDX15 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15|DEAH (Asp-Glu-Ala-His) box polypeptide 15|DEAH (Asp-Glu-Ala-His) box helicase 15" "DEAH-box helicases|SSU processome|Spliceosomal A complex|Spliceosomal B complex|U11/U12 di-snRNP" "500|1484|1504|1507|1521" 1997-12-05 2003-06-20 2016-01-07 2016-10-05 1665 ENSG00000109606 OTTHUMG00000160304 uc003gqx.4 AB001636 NM_001358 CCDS33966 O43143 9388478 MGI:1099786 RGD:1308072 603403 HGNC:2738 "ENST00000336812.5|NM_001358.3" +HGNC:2739 DHX16 DEAH-box helicase 16 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "DBP2|Prp2|PRPF2" pre-mRNA processing factor 2 DDX16 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16|DEAH (Asp-Glu-Ala-His) box polypeptide 16" "DEAH-box helicases|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "500|1508|1510|1516" 1998-11-04 2003-06-20 2016-01-07 2021-12-02 8449 ENSG00000204560 OTTHUMG00000031060 uc003nqz.4 AB001601 NM_003587 "CCDS4685|CCDS87382" O60231 "9547260|20423332" MGI:1916442 RGD:1302963 603405 HGNC:2739 "ENST00000376442.8|NM_003587.5" HGNC:2739 +HGNC:15815 DHX29 DExH-box helicase 29 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 DDX29 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29|DEAH-box helicase 29" DEAH-box helicases 500 2001-07-18 2003-06-20 2016-09-27 2016-09-27 54505 ENSG00000067248 OTTHUMG00000162313 uc003jpx.4 AY036974 NM_019030 CCDS34158 Q7Z478 MGI:2145374 RGD:2318361 612720 HGNC:15815 "ENST00000251636.10|NM_019030.4" +HGNC:16716 DHX30 DExH-box helicase 30 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "KIAA0890|FLJ11214" DDX30 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30|DEAH-box helicase 30" "DEAH-box helicases|MicroRNA protein coding host genes" "500|1691" 2001-11-27 2003-06-13 2016-09-27 2021-05-26 22907 ENSG00000132153 OTTHUMG00000133522 uc003cru.4 AB020697 NM_138615 "CCDS87074|CCDS2759" Q7L2E3 "10048485|18022663" MGI:1920081 RGD:1308888 616423 HGNC:16716 "ENST00000445061.6|NM_138615.3" HGNC:16716 +HGNC:16717 DHX32 DEAH-box helicase 32 (putative) protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "FLJ10889|FLJ10694|DHLP1" DDX32 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32|DEAH (Asp-Glu-Ala-His) box polypeptide 32" DEAH-box helicases 500 2001-11-27 2004-01-30 2016-01-07 2021-10-07 55760 ENSG00000089876 OTTHUMG00000019238 uc001ljf.1 NM_018180 CCDS7652 Q7L7V1 16959245 MGI:2141813 RGD:1311740 607960 HGNC:16717 "ENST00000284690.4|NM_018180.3" HGNC:16717 +HGNC:16718 DHX33 DEAH-box helicase 33 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FLJ21972|DKFZp762F2011" DDX33 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33|DEAH (Asp-Glu-Ala-His) box polypeptide 33" DEAH-box helicases 500 2001-11-27 2003-06-13 2016-01-07 2016-10-05 56919 ENSG00000005100 OTTHUMG00000102041 uc002gca.3 AL359945 NM_020162 CCDS11072 Q9H6R0 MGI:2445102 RGD:1307239 614405 HGNC:16718 "ENST00000225296.8|NM_020162.4" +HGNC:52937 DHX33-DT DHX33 divergent transcript non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Divergent transcripts 1990 2019-06-17 2019-06-17 105371506 ENSG00000262099 OTTHUMG00000177876 NR_135644 HGNC:52937 +HGNC:16719 DHX34 DExH-box helicase 34 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 KIAA0134 DDX34 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34|DEAH-box helicase 34" "DEAH-box helicases|SURF complex|DECID complex" "500|1963|1964" 2001-11-27 2003-06-13 2016-09-27 2016-10-05 9704 ENSG00000134815 OTTHUMG00000149959 uc010xyn.2 D50924 NM_014681 CCDS12700 Q14147 "10708517|8590280" MGI:1918973 RGD:1584452 615475 HGNC:16719 "ENST00000328771.9|NM_014681.6" HGNC:16719 +HGNC:15861 DHX35 DEAH-box helicase 35 protein-coding gene gene with protein product Approved 20q11.23-q12 20q11.23-q12 "FLJ22759|KAIA0875" "C20orf15|DDX35" "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35|DEAH (Asp-Glu-Ala-His) box polypeptide 35" "DEAH-box helicases|Spliceosomal C complex" "500|1510" 2001-11-27 2003-06-13 2016-01-07 2018-02-13 60625 ENSG00000101452 OTTHUMG00000032463 uc002xjh.4 AK026412 NM_021931 "CCDS13310|CCDS54463" Q9H5Z1 MGI:1918965 RGD:1311165 HGNC:15861 "ENST00000252011.8|NM_021931.4" +HGNC:55365 DHX35-DT DHX35 divergent transcript non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 Divergent transcripts 1990 2020-11-11 2020-11-11 119545624 ENSG00000261431 +HGNC:14410 DHX36 DEAH-box helicase 36 protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "MLEL1|KIAA1488|RHAU" RNA helicase associated with AU-rich element DDX36 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36|DEAH (Asp-Glu-Ala-His) box polypeptide 36" "DEAH-box helicases|DNA helicases" "500|1167" 2001-11-23 2003-06-20 2016-01-07 2021-10-07 170506 ENSG00000174953 OTTHUMG00000159109 uc003ezy.5 AF217190 NM_020865 "CCDS54657|CCDS3171" Q9H2U1 MGI:1919412 RGD:1308767 612767 HGNC:14410 "ENST00000496811.6|NM_020865.3" +HGNC:17210 DHX37 DEAH-box helicase 37 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA1517|MGC4322|MGC2695|Dhr1" DDX37 "DEAD/DEAH box helicase DDX37|DEAH (Asp-Glu-Ala-His) box polypeptide 37" "DEAH-box helicases|SSU processome" "500|1484" 2001-11-21 2003-06-20 2016-01-07 2019-08-21 57647 ENSG00000150990 OTTHUMG00000168547 uc001ugy.4 AB040950 NM_032656 CCDS9261 Q8IY37 10819331 MGI:3028576 RGD:1306837 617362 HGNC:17210 "ENST00000308736.7|NM_032656.4" HGNC:17210 +HGNC:17211 DHX38 DEAH-box helicase 38 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "PRP16|KIAA0224|hPrp16|PRPF16" DDX38 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38|DEAH (Asp-Glu-Ala-His) box polypeptide 38" DEAH-box helicases 500 2001-12-11 2003-06-20 2016-01-07 2016-10-05 9785 ENSG00000140829 OTTHUMG00000137596 uc002fcb.4 AF038391 NM_014003 CCDS10907 Q92620 "9524131|9039502" MGI:1927617 RGD:1310345 605584 470184 HGNC:17211 "ENST00000268482.8|NM_014003.4" HGNC:17211 +HGNC:18018 DHX40 DEAH-box helicase 40 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "ARG147|PAD|FLJ22060" DDX40 "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)|DEAH (Asp-Glu-Ala-His) box polypeptide 40" "DEAH-box helicases|NTC associated proteins" "500|1498" 2002-02-05 2003-06-20 2016-01-07 2016-10-05 79665 ENSG00000108406 OTTHUMG00000179401 uc002ixn.3 AF260270 NM_024612 "CCDS54150|CCDS11617" Q8IX18 MGI:1914737 RGD:1359618 607570 HGNC:18018 "ENST00000251241.9|NM_024612.5" +HGNC:20687 DHX40P1 DEAH-box helicase 40 pseudogene 1 pseudogene pseudogene Approved 17q23.1 17q23.1 DHX40P "DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene|DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene 1" 2005-12-20 2010-02-25 2016-01-07 2016-10-05 107133522 ENSG00000266992 OTTHUMG00000179979 BC029885 NG_046682 HGNC:20687 +HGNC:20086 DHX57 DExH-box helicase 57 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 DDX57 DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 DEAH-box helicases 500 2003-06-13 2016-09-27 2016-10-05 90957 ENSG00000163214 OTTHUMG00000102103 uc002rrf.5 AF070590 NM_145646 CCDS1800 Q6P158 MGI:2147067 RGD:1310340 HGNC:20086 "ENST00000457308.6|NM_198963.3" +HGNC:29517 DHX58 DExH-box helicase 58 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "LGP2|D11LGP2" RNA helicase LGP2 DEXH (Asp-Glu-X-His) box polypeptide 58 DEAH-box helicases 500 2007-06-20 2016-09-27 2021-10-07 79132 ENSG00000108771 OTTHUMG00000133493 uc002hyw.5 BC014949 NM_024119 CCDS11416 Q96C10 11735219 MGI:1931560 RGD:1310093 608588 objectId:2922 HGNC:29517 "ENST00000251642.8|NM_024119.3" +HGNC:21528 DIABLO diablo IAP-binding mitochondrial protein protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SMAC|DIABLO-S|FLJ25049|FLJ10537|DFNA64" second mitochondria-derived activator of caspase diablo, IAP-binding mitochondrial protein 2003-10-27 2016-03-08 2018-05-03 56616 ENSG00000184047 OTTHUMG00000157014 uc010tab.4 AF262240 NM_019887 "CCDS73541|CCDS9229|CCDS9228" Q9NR28 "12749848|17237824|21722859" MGI:1913843 RGD:1310885 605219 270442 HGNC:21528 "ENST00000464942.7|NM_001371333.1" HGNC:21528 +HGNC:2876 DIAPH1 diaphanous related formin 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "hDIA1|LFHL1|mDia1" mammalian diaphanous related formin 1 DFNA1 "diaphanous (Drosophila, homolog) 1|diaphanous homolog 1 (Drosophila)" "Armadillo like helical domain containing|Formins" "1492|2006" 1998-03-17 2015-11-18 2021-09-22 1729 ENSG00000131504 OTTHUMG00000149893 uc063iba.1 BC007411 NM_005219 "CCDS43374|CCDS43373|CCDS87331" O60610 "9360932|1350680" MGI:1194490 RGD:1310707 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_1117|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1117.xml" 602121 121073 HGNC:2876 "ENST00000389054.8|NM_005219.5" HGNC:2876 +HGNC:40177 DIAPH1-AS1 DIAPH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 Antisense RNAs 1987 2019-07-25 2019-07-25 100505658 ENSG00000246422 OTTHUMG00000164151 NR_038333 HGNC:40177 +HGNC:2877 DIAPH2 diaphanous related formin 2 protein-coding gene gene with protein product Approved Xq21.33 Xq21.33 "POF|DIA|POF2|DIA2" Premature ovarian failure 2A "diaphanous (Drosophila, homolog) 2|diaphanous homolog 2 (Drosophila)" "Armadillo like helical domain containing|Formins" "1492|2006" 1998-03-17 2015-11-18 2021-09-22 1730 ENSG00000147202 OTTHUMG00000022689 uc004efu.5 Y15909 "NM_006729|NM_007309" "CCDS14467|CCDS14468" O60879 9360932 MGI:1858500 RGD:1564399 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DIAPH2 300108 121078 HGNC:2877 "ENST00000324765.13|NM_006729.5" +HGNC:16972 DIAPH2-AS1 DIAPH2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq21.33 Xq21.33 DIAPH2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-10 2012-08-15 2016-10-05 10824 ENSG00000236256 OTTHUMG00000021989 uc065afh.1 NR_125391 Q14236 "8133036|7736777" 300347 DIAPH2-AS1 HGNC:16972 +HGNC:15480 DIAPH3 diaphanous related formin 3 protein-coding gene gene with protein product Approved 13q21.2 13q21.2 "DRF3|FLJ34705|AN|NSDAN" AUNA1 "diaphanous (Drosophila, homolog) 3|auditory neuropathy, autosomal dominant 1|diaphanous homolog 3 (Drosophila)" "Armadillo like helical domain containing|Formins" "1492|2006" 2001-05-02 2015-11-18 2021-09-22 81624 ENSG00000139734 OTTHUMG00000017004 uc001vht.6 AL137718 NM_001042517 "CCDS73580|CCDS58297|CCDS41898|CCDS58296|CCDS58295|CCDS73579|CCDS58294" Q9NSV4 "14767582|20624953" MGI:1927222 RGD:1593287 614567 304486 HGNC:15480 "ENST00000400324.9|NM_001042517.2" HGNC:15480 +HGNC:39915 DIAPH3-AS1 DIAPH3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q21.2 13q21.2 DIAPH3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874195 ENSG00000227528 OTTHUMG00000017002 uc031qlx.3 NR_046539 DIAPH3-AS1 HGNC:39915 +HGNC:39916 DIAPH3-AS2 DIAPH3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q21.2 13q21.2 DIAPH3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-06-13 2012-08-15 2014-11-19 100874196 ENSG00000223815 OTTHUMG00000017003 uc031qma.1 NR_046540 DIAPH3-AS2 HGNC:39916 +HGNC:17098 DICER1 dicer 1, ribonuclease III protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "Dicer|KIAA0928|K12H4.8-LIKE|HERNA" dicer 1, double-stranded RNA-specific endoribonuclease MNG1 "Dicer1, Dcr-1 homolog (Drosophila)|multinodular goitre 1|dicer 1, ribonuclease type III" "RNA helicases|Endoribonucleases|MicroRNA protein coding host genes|RISC loading complex" "1168|1687|1691|1776" 2002-05-09 2016-03-24 2021-05-26 23405 ENSG00000100697 OTTHUMG00000166134 uc001ydw.3 AB028449 NM_030621 "CCDS9931|CCDS55941" Q9UPY3 "10051563|10786632|21205968" MGI:2177178 RGD:1309381 LRG_492|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_492.xml DICER1 606241 209285 HGNC:17098 "ENST00000343455.8|NM_177438.3" HGNC:17098 +HGNC:43017 DICER1-AS1 DICER1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.13 14q32.13 FLJ45244 DICER1 antisense RNA (non-protein coding) DICER1-AS DICER1 antisense RNA (non-protein coding) Antisense RNAs 1987 2011-09-16 2012-01-25 2012-08-15 2018-05-18 400242 ENSG00000235706 OTTHUMG00000150190 uc059eud.1 BC040596 NR_015415 29772430 DICER1-AS1 HGNC:43017 +HGNC:2680 DIDO1 death inducer-obliterator 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "DIO1|dJ885L7.8|FLJ11265|KIAA0333|DIO-1|BYE1" "C20orf158|DATF1" "chromosome 20 open reading frame 158|death associated transcription factor 1" PHD finger proteins 88 1999-12-17 2005-11-11 2005-11-11 2014-11-19 11083 ENSG00000101191 OTTHUMG00000032945 uc002ydt.3 AB002331 NM_080796 "CCDS13508|CCDS13509|CCDS33506" Q9BTC0 10393935 MGI:1344352 RGD:1311173 604140 470188 HGNC:2680 "ENST00000395343.6|NM_001193369.2" +HGNC:30217 DIMT1 DIM1 rRNA methyltransferase and ribosome maturation factor protein-coding gene gene with protein product Approved 5q12.1 05q12.1 HSA9761 DIMT1L "DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)|DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)|DIMT1 rRNA methyltransferase and ribosome maturation factor" "Ribosomal biogenesis factors|7BS N6-adenosine DNA/RNA methyltransferases" "1729|2061" 2006-08-11 2011-08-11 2021-05-20 2021-05-20 27292 ENSG00000086189 OTTHUMG00000131223 uc003jta.4 AF102147 NM_014473 "CCDS87298|CCDS3981" Q9UNQ2 "11124703|25851604" MGI:1913504 RGD:1311752 612499 2.1.1.183 HGNC:30217 "ENST00000199320.9|NM_014473.4" +HGNC:52892 DIMT1P1 DIM1 dimethyladenosine transferase 1 homolog pseudogene 1 pseudogene pseudogene Approved 3q13.13 03q13.13 2016-12-16 2016-12-16 100422385 ENSG00000271249 OTTHUMG00000184360 NG_025608 PGOHUM00000299125 HGNC:52892 +HGNC:53146 DINOL damage induced long noncoding RNA non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 DINO damage induced noncoding Long non-coding RNAs with non-systematic symbols 1992 2017-06-08 2020-01-06 108783646 ENSG00000285244 JX993265 NR_144384 27668660 HGNC:53146 +HGNC:2883 DIO1 iodothyronine deiodinase 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "thyroxine 5'-deiodinase|type I iodothyronine deiodinase|selenoprotein DIO1" TXDI1 deiodinase, iodothyronine type I Selenoproteins 890 1993-12-14 2016-10-13 2020-08-14 1733 ENSG00000211452 OTTHUMG00000008435 uc021onq.2 NM_000792 "CCDS41339|CCDS41340|CCDS81328|CCDS30722|CCDS53320" P49895 8964838 MGI:94896 RGD:2504 147892 470186 objectId:2481 1.21.99.4 HGNC:2883 "ENST00000361921.8|NM_000792.7" +HGNC:2884 DIO2 iodothyronine deiodinase 2 protein-coding gene gene with protein product Approved 14q31.1 14q31.1 "TXDI2|SelY|SELENOY" "thyroxine deiodinase, type II|deiodonase-2|deiodinase-2|selenoprotein Y" deiodinase, iodothyronine type II Selenoproteins 890 1997-05-09 2016-10-13 2021-03-08 1734 ENSG00000211448 OTTHUMG00000171443 uc010asy.4 AF007144 NM_000793 CCDS45146 Q92813 "8755651|10343107" MGI:1338833 RGD:68418 601413 470190 objectId:2482 1.21.99.4 HGNC:2884 "ENST00000438257.9|NM_013989.5" +HGNC:44153 DIO2-AS1 DIO2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q31.1 14q31.1 DIO2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100628307 ENSG00000258766 OTTHUMG00000171497 uc001xuw.2 BC039670 NR_038355 DIO2-AS1 HGNC:44153 +HGNC:2885 DIO3 iodothyronine deiodinase 3 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "thyroxine 5-deiodinase|selenoprotein DIO3" TXDI3 deiodinase, iodothyronine type III Selenoproteins 890 1996-04-09 2016-10-13 2020-08-14 1735 ENSG00000197406 OTTHUMG00000160681 uc021sdx.1 S79854 NM_001362 CCDS41992 P55073 "9787088|7593630" MGI:1306782 RGD:68420 601038 470192 objectId:2483 1.21.99.3 HGNC:2885 +HGNC:20348 DIO3OS DIO3 opposite strand upstream RNA non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 "NCRNA00041|DIO3-AS1" non-protein coding RNA 41 C14orf134 "chromosome 14 open reading frame 134|deiodinase, iodothyronine, type III opposite strand|DIO3 opposite strand/antisense RNA|DIO3 opposite strand/antisense RNA (head to head)" Long non-coding RNAs with non-systematic symbols 1992 2003-01-28 2011-11-14 2018-03-22 2018-08-17 64150 ENSG00000258498 OTTHUMG00000171682 uc059fic.1 AF305836 NR_002770 14962667 MGI:2664395 RGD:7653627 608523 Dio3os DIO3OS HGNC:20348 +HGNC:17217 DIP2A disco interacting protein 2 homolog A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "Dip2|KIAA0184" C21orf106 "chromosome 21 open reading frame 106|DIP2 disco-interacting protein 2 homolog A (Drosophila)" 2003-12-15 2006-01-13 2015-11-23 2015-11-23 23181 ENSG00000160305 OTTHUMG00000090717 uc002zjo.3 AF490768 NM_015151 "CCDS54490|CCDS46657|CCDS46656|CCDS46655|CCDS54491" Q14689 MGI:2385920 RGD:1582897 607711 HGNC:17217 "ENST00000417564.3|NM_015151.4" HGNC:17217 +HGNC:41430 DIP2A-IT1 DIP2A intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 DIP2A intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100862692 ENSG00000223692 OTTHUMG00000090716 uc031rwd.2 NR_046400 DIP2A-IT1 HGNC:41430 +HGNC:29284 DIP2B disco interacting protein 2 homolog B protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "KIAA1463|FLJ34278" DIP2 disco-interacting protein 2 homolog B (Drosophila) 2006-01-13 2015-11-23 2021-05-26 57609 ENSG00000066084 OTTHUMG00000169475 uc001rwv.4 AB040896 NM_173602 CCDS31799 Q9P265 17236128 MGI:2145977 RGD:1305671 611379 470194 HGNC:29284 "ENST00000301180.10|NM_173602.3" HGNC:29284 +HGNC:29150 DIP2C disco interacting protein 2 homolog C protein-coding gene gene with protein product Approved 10p15.3 10p15.3 KIAA0934 "KIAA0934|DIP2 disco-interacting protein 2 homolog C (Drosophila)" MicroRNA protein coding host genes 1691 2004-04-20 2006-01-13 2015-11-23 2015-11-23 22982 ENSG00000151240 OTTHUMG00000017532 uc001ifp.5 BC035216 NM_014974 CCDS7054 Q9Y2E4 MGI:1920179 RGD:1560155 611380 HGNC:29150 "ENST00000280886.12|NM_014974.3" +HGNC:30724 DIP2C-AS1 DIP2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 FLJ38681 "C10orf108|PRR26" "chromosome 10 open reading frame 108|proline rich 26" Antisense RNAs 1987 2004-05-27 2020-06-18 2020-06-18 2020-06-18 414235 ENSG00000180525 OTTHUMG00000017529 uc057rea.1 AK096000 XR_007062026 CCDS86066 Q8N8Z3 HGNC:30724 +HGNC:32213 DIPK1A divergent protein kinase domain 1A protein-coding gene gene with protein product Approved 1p22.1 01p22.1 FLJ23493 FAM69A "family with sequence similarity 69, member A|family with sequence similarity 69 member A" divergent protein kinase domain family 1622 2005-08-15 2018-09-27 2018-09-27 2018-09-27 388650 ENSG00000154511 OTTHUMG00000010894 uc001dpg.4 AK027146 NM_001006605 "CCDS44173|CCDS72823|CCDS72822|CCDS72824|CCDS72825" Q5T7M9 "21334309|23840464" MGI:1914516 RGD:1308581 614542 HGNC:32213 "ENST00000370310.5|NM_001006605.5" +HGNC:28290 DIPK1B divergent protein kinase domain 1B protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MGC20262|C9orf136" FAM69B "family with sequence similarity 69, member B|family with sequence similarity 69 member B" divergent protein kinase domain family 1622 2005-08-15 2018-09-27 2018-09-27 2018-09-27 138311 ENSG00000165716 OTTHUMG00000020940 uc004cik.4 NM_152421 CCDS7004 Q5VUD6 "21334309|23840464" MGI:1927576 RGD:1308600 614543 HGNC:28290 "ENST00000371692.9|NM_152421.4" +HGNC:31729 DIPK1C divergent protein kinase domain 1C protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "C18orf51|FAM69C" "chromosome 18 open reading frame 51|family with sequence similarity 69, member C|family with sequence similarity 69 member C" divergent protein kinase domain family 1622 2004-06-22 2018-09-27 2018-09-27 2018-11-15 125704 ENSG00000187773 OTTHUMG00000156984 uc002llk.4 BC019628 NM_001044369 CCDS42445 Q0P6D2 "21334309|23840464" MGI:3041188 RGD:1559694 614544 HGNC:31729 "ENST00000343998.8|NM_001044369.3" +HGNC:28490 DIPK2A divergent protein kinase domain 2A protein-coding gene gene with protein product Approved 3q24 03q24 "MGC33365|DIA1|HASF" "deleted in autism 1|hypoxia and Akt induced stem cell factor" C3orf58 chromosome 3 open reading frame 58 divergent protein kinase domain family 1622 2006-02-07 2018-09-27 2018-09-27 2018-09-27 205428 ENSG00000181744 OTTHUMG00000159380 uc003evo.4 AK095161 NM_173552 "CCDS46929|CCDS3130|CCDS87151" Q8NDZ4 "21283809|23784961|24269490|29666759" MGI:1916111 RGD:1309079 612200 HGNC:28490 "ENST00000315691.8|NM_173552.5" +HGNC:25866 DIPK2B divergent protein kinase domain 2B protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "FLJ14103|DIA1R" CXorf36 chromosome X open reading frame 36 divergent protein kinase domain family 1622 2004-08-27 2018-09-27 2018-09-27 2020-04-02 79742 ENSG00000147113 OTTHUMG00000021403 uc004dgg.3 AF289581 NM_024689 "CCDS48096|CCDS14266" Q9H7Y0 "11944989|21283809|23840464" MGI:1923155 RGD:1559731 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf36 300959 HGNC:25866 "ENST00000398000.7|NM_176819.4" +HGNC:19127 DIRAS1 DIRAS family GTPase 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Di-Ras1|GBTS1|RIG" "Ras-related inhibitor of cell growth|small GTP-binding tumor suppressor 1|distinct subgroup of the Ras family member 1" DIRAS family, GTP-binding RAS-like 1 RAS type GTPase family 389 2003-02-07 2016-05-04 2021-10-28 148252 ENSG00000176490 OTTHUMG00000180439 uc002lwf.4 BC030660 NM_145173 CCDS12092 O95057 "12107278|12194967" MGI:2183442 RGD:1310445 607862 HGNC:19127 "ENST00000323469.5|NM_145173.4" +HGNC:19323 DIRAS2 DIRAS family GTPase 2 protein-coding gene gene with protein product Approved 9q22.2 09q22.2 "Di-Ras2|DKFZp761C07121" distinct subgroup of the Ras family member 2 DIRAS family, GTP-binding RAS-like 2 RAS type GTPase family 389 2003-02-07 2016-05-04 2021-10-28 54769 ENSG00000165023 OTTHUMG00000020196 uc004aqx.2 AB076889 NM_017594 CCDS6687 Q96HU8 12194967 MGI:1915453 RGD:1305580 607863 HGNC:19323 "ENST00000375765.5|NM_017594.5" +HGNC:687 DIRAS3 DIRAS family GTPase 3 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 NOEY2 "GTP-binding protein Di-Ras3|distinct subgroup of the Ras family member 3" ARHI "ras homolog gene family, member I|DIRAS family, GTP-binding RAS-like 3" RAS type GTPase family 389 1999-01-22 2005-01-27 2016-05-04 2021-10-28 9077 ENSG00000162595 OTTHUMG00000009544 uc001ded.4 U96750 NM_004675 CCDS641 O95661 "9874798|12194967|18302158" RGD:1565168 LRG_1034|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1034.xml 605193 HGNC:687 "ENST00000646789.1|NM_004675.5" +HGNC:15760 DIRC1 disrupted in renal carcinoma 1 non-coding RNA RNA, long non-coding Approved 2q32.2 02q32.2 Long non-coding RNAs with non-systematic symbols 1992 2001-06-21 2019-10-30 116093 ENSG00000174325 OTTHUMG00000132646 uc002uqi.2 AY039011 NR_161166 Q969H9 11587072 606423 HGNC:15760 +HGNC:17805 DIRC3 disrupted in renal carcinoma 3 non-coding RNA RNA, long non-coding Approved 2q35 02q35 FLJ14199 Long non-coding RNAs with non-systematic symbols 1992 2003-09-22 2017-11-29 729582 ENSG00000231672 OTTHUMG00000155287 uc061sgw.1 AK024261 NR_026597 12939738 608262 326692 HGNC:17805 +HGNC:50636 DIRC3-AS1 DIRC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2014-06-02 2014-06-02 105373877 ENSG00000233143 OTTHUMG00000155286 CO245227 NR_133642 DIRC3-AS1 HGNC:50636 +HGNC:20604 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease protein-coding gene gene with protein product Approved 13q21.33 13q21.33 "dis3p|RRP44|EXOSC11" exosome component 11 KIAA1008 "KIAA1008|DIS3 mitotic control homolog (S. cerevisiae)" "Exosome complex|Endoribonucleases" "817|1687" 2004-04-16 2007-01-12 2015-07-03 2016-10-05 22894 ENSG00000083520 OTTHUMG00000017070 uc001vix.6 AB023225 NM_014953 "CCDS45057|CCDS9447|CCDS81772" Q9Y2L1 "11935316|9562621" MGI:1919912 RGD:1304646 607533 470196 HGNC:20604 "ENST00000377767.9|NM_014953.5" +HGNC:28698 DIS3L DIS3 like exosome 3'-5' exoribonuclease protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "MGC4562|FLJ38088|KIAA1955|DIS3L1" DIS3 mitotic control homolog (S. cerevisiae)-like Exosome complex 817 2007-01-12 2014-03-05 2014-11-19 115752 ENSG00000166938 OTTHUMG00000133181 uc010ujm.3 NM_133375 "CCDS10214|CCDS45286" Q8TF46 20531386 MGI:2143272 RGD:1308959 614183 HGNC:28698 "ENST00000319212.9|NM_001143688.3" +HGNC:55369 DIS3L-AS1 DIS3L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q22.31 15q22.31 Antisense RNAs 1987 2020-11-11 2020-11-11 105370868 ENSG00000261318 XR_007064685 +HGNC:28648 DIS3L2 DIS3 like 3'-5' exoribonuclease 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "FLJ36974|MGC42174" FAM6A "family with sequence similarity 6, member A|DIS3 mitotic control homolog (S. cerevisiae)-like 2" MicroRNA protein coding host genes 1691 2007-01-17 2014-03-05 2021-05-26 129563 ENSG00000144535 OTTHUMG00000153385 uc010fxz.4 BC026166 NM_152383 "CCDS58752|CCDS58753|CCDS42834" Q8IYB7 "22306653|23503588" MGI:2442555 RGD:1560168 LRG_534|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_534.xml 614184 293019 HGNC:28648 "ENST00000325385.12|NM_152383.5" HGNC:28648 +HGNC:14021 DIS3L2P1 DIS3 like 3'-5' exoribonuclease 2 pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 "FAM6B|DIS3L2P" "family with sequence similarity 6, member B pseudogene|DIS3 mitotic control homolog (S. cerevisiae)-like 2 pseudogene|DIS3 mitotic control homolog (S. cerevisiae)-like 2 pseudogene 1|DIS3L2 pseudogene 1" 2002-12-10 2010-10-12 2015-04-07 2015-04-07 282697 ENSG00000223788 OTTHUMG00000153337 AF307337 NG_009945 11352565 HGNC:14021 +HGNC:2888 DISC1 DISC1 scaffold protein protein-coding gene gene with protein product Approved 1q42.2 01q42.2 disrupted in schizophrenia 1 2000-01-20 2018-03-01 2018-03-01 27185 ENSG00000162946 OTTHUMG00000037835 uc010pww.3 AF222980 NM_018662 "CCDS59205|CCDS59206|CCDS59207|CCDS86058|CCDS31055|CCDS31056|CCDS86059|CCDS53485|CCDS53484|CCDS53483|CCDS53482" Q9NRI5 10814723 MGI:2447658 RGD:631359 605210 121089 HGNC:2888 "ENST00000439617.8|NM_018662.3" +HGNC:41325 DISC1-IT1 DISC1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 DISC1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 104472714 ENSG00000226758 OTTHUMG00000037834 uc057qju.1 NR_126441 DISC1-IT1 HGNC:41325 +HGNC:33625 DISC1FP1 DISC1 fusion partner 1 non-coding RNA RNA, long non-coding Approved 11q14.3 11q14.3 Boymaw DISC1 fusion partner 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2012-03-16 2018-05-16 2020-04-20 101929222 ENSG00000261645 OTTHUMG00000167309 uc031yah.1 "AK130626|EU302123" NR_104190 22547224 DISC1FP1 HGNC:33625 +HGNC:2889 DISC2 disrupted in schizophrenia 2 non-coding RNA RNA, long non-coding Approved 1q42.1 01q42.1 "DISC1-AS1|DISC1OS|NCRNA00015" "DISC1 antisense RNA 1|non-protein coding RNA 15" disrupted in schizophrenia 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2000-01-20 2018-05-16 2018-05-16 27184 uc057qjs.1 AF222981 NR_002227 "10814723|15478311" 606271 DISC2 DISC2 HGNC:2889 +HGNC:19711 DISP1 dispatched RND transporter family member 1 protein-coding gene gene with protein product Approved 1q41 01q41 "DISPA|MGC13130|DKFZP434I0428|MGC16796" dispatched homolog 1 (Drosophila) 2003-12-12 2016-01-15 2021-05-26 84976 ENSG00000154309 OTTHUMG00000037893 uc057prm.1 AK056569 NM_032890 CCDS1536 Q96F81 10619433 MGI:1916147 RGD:1307675 607502 242325 HGNC:19711 "ENST00000675850.1|NM_001377229.1" HGNC:19711 +HGNC:19712 DISP2 dispatched RND transporter family member 2 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "DISPB|KIAA1742|HsT16908" "LINC00594|C15orf36" "dispatched homolog 2 (Drosophila)|long intergenic non-protein coding RNA 594|chromosome 15 open reading frame 36" 2003-12-12 2016-01-15 2017-01-19 85455 ENSG00000140323 OTTHUMG00000129983 uc001zlk.2 AB051529 NM_033510 CCDS10056 A7MBM2 "11214970|10619433" MGI:2388733 RGD:1309569 607503 HGNC:19712 "ENST00000267889.5|NM_033510.3" +HGNC:29251 DISP3 dispatched RND transporter family member 3 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 KIAA1337 dispatched homolog 3 (Drosophila) PTCHD2 patched domain containing 2 2005-05-24 2016-01-15 2016-01-15 2018-11-15 57540 ENSG00000204624 OTTHUMG00000002074 uc001ash.5 AB037758 NM_020780 CCDS41247 Q9P2K9 "15738394|25281927" MGI:2444403 RGD:1305820 611251 HGNC:29251 "ENST00000294484.7|NM_020780.2" +HGNC:23695 DIXDC1 DIX domain containing 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "KIAA1735|Dixin" Dishevelled segment polarity proteins 505 2003-12-03 2018-02-20 85458 ENSG00000150764 OTTHUMG00000166912 uc031yfb.2 AB051522 NM_001037954 "CCDS73382|CCDS60957|CCDS73381" Q155Q3 12792787 MGI:2679721 RGD:1309902 610493 HGNC:23695 "ENST00000440460.7|NM_001037954.4" +HGNC:2890 DKC1 dyskerin pseudouridine synthase 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "XAP101|dyskerin|NAP57|NOLA4|Cbf5" H/ACA ribonucleoprotein complex subunit 4 DKC dyskeratosis congenita 1, dyskerin "H/ACA ribonucleoprotein complex|Pseudouridine synthases|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1221|1665|1691|1835" 2001-06-22 2016-02-17 2021-05-26 1736 ENSG00000130826 OTTHUMG00000024242 uc004fmm.5 AJ224481 NM_001363 "CCDS76062|CCDS14761" O60832 "9590285|9888995" MGI:1861727 RGD:621780 "DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome|http://structure.bmc.lu.se/idbase/DKC1base/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DKC1|LRG_55|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_55.xml" 300126 121091 HGNC:2890 "ENST00000369550.10|NM_001363.5" HGNC:2890 +HGNC:2891 DKK1 dickkopf WNT signaling pathway inhibitor 1 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "SK|DKK-1" "dickkopf (Xenopus laevis) homolog 1|dickkopf 1 homolog (Xenopus laevis)" 2000-09-01 2013-05-15 2018-06-28 22943 ENSG00000107984 OTTHUMG00000018247 uc001jjr.4 NM_012242 CCDS7246 O94907 MGI:1329040 RGD:1307313 605189 310112 ligandId:3701 HGNC:2891 "ENST00000373970.4|NM_012242.4" +HGNC:2892 DKK2 dickkopf WNT signaling pathway inhibitor 2 protein-coding gene gene with protein product Approved 4q25 04q25 "dickkopf (Xenopus laevis) homolog 2|dickkopf 2 homolog (Xenopus laevis)" 2000-09-01 2013-05-15 2014-11-19 27123 ENSG00000155011 OTTHUMG00000131216 uc003hyi.4 AB033208 NM_014421 CCDS3675 Q9UBU2 10570958 MGI:1890663 RGD:1308639 605415 HGNC:2892 "ENST00000285311.8|NM_014421.3" +HGNC:2893 DKK3 dickkopf WNT signaling pathway inhibitor 3 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "REIC|RIG|CRRL" "regulated in glioma|cardiomyocyte regeneration-related lncRNA" "dickkopf (Xenopus laevis) homolog 3|dickkopf 3 homolog (Xenopus laevis)" 2000-09-01 2013-05-15 2021-11-15 27122 ENSG00000050165 OTTHUMG00000165709 uc001mjw.4 AF177396 NM_013253 "CCDS81555|CCDS7808" Q9UBP4 10570958 MGI:1354952 RGD:621846 605416 HGNC:2893 "ENST00000683431.1|NM_001018057.2" +HGNC:2894 DKK4 dickkopf WNT signaling pathway inhibitor 4 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "dickkopf (Xenopus laevis) homolog 4|dickkopf homolog 4 (Xenopus laevis)" 2000-09-01 2013-05-15 2016-10-05 27121 ENSG00000104371 OTTHUMG00000164167 uc003xpb.4 AF177397 NM_014420 CCDS6130 Q9UBT3 "10570958|11701963" MGI:2385299 RGD:1563172 605417 HGNC:2894 "ENST00000220812.3|NM_014420.3" +HGNC:16528 DKKL1 dickkopf like acrosomal protein 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "SGY-1|CT34" "cancer/testis antigen 34|soggy" dickkopf-like 1 2004-07-09 2016-02-15 2016-10-05 27120 ENSG00000104901 OTTHUMG00000183171 uc002pnk.4 AB047816 NM_014419 CCDS12762 Q9UK85 "10570958|15892050" MGI:1354963 RGD:1563523 605418 HGNC:16528 "ENST00000221498.7|NM_014419.4" +HGNC:16593 DKKL1P1 DKKL1 pseudogene 1 pseudogene pseudogene Approved 20q11.21 20q11.21 dJ854E16.1 DKKL2 "dickkopf-like 2|dickkopf-like 1 pseudogene 1" 2001-09-17 2010-10-12 2019-02-18 2019-02-18 128848 ENSG00000215546 OTTHUMG00000032158 NG_005524 PGOHUM00000247640 HGNC:16593 +HGNC:2896 DLAT dihydrolipoamide S-acetyltransferase protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "PDC-E2|E2" "E2 component of pyruvate dehydrogenase complex|dihydrolipoyllysine-residue acetyltransferase" DLTA Pyruvate dehydrogenase complex 1547 1989-06-30 2008-02-04 2018-12-14 1737 ENSG00000150768 OTTHUMG00000133751 uc001pmo.4 Y00978 NM_001931 CCDS8354 P10515 8102256 MGI:2385311 RGD:619859 608770 121098 2.3.1.12 HGNC:2896 "ENST00000280346.11|NM_001931.5" HGNC:2896 +HGNC:2897 DLC1 DLC1 Rho GTPase activating protein protein-coding gene gene with protein product Approved 8p22 08p22 "HP|ARHGAP7|STARD12|DLC-1|p122-RhoGAP" StAR-related lipid transfer (START) domain containing 12 deleted in liver cancer 1 "Rho GTPase activating proteins|StAR related lipid transfer domain containing" "721|759" 1999-06-17 2014-06-20 2016-04-25 10395 ENSG00000164741 OTTHUMG00000090825 uc003wwm.3 AF035119 "NM_182643|NM_006094" "CCDS83253|CCDS55201|CCDS5991|CCDS5990|CCDS5989" Q96QB1 "9605766|11214970" MGI:1354949 RGD:68416 604258 470198 HGNC:2897 "ENST00000276297.9|NM_182643.3" HGNC:2897 +HGNC:2898 DLD dihydrolipoamide dehydrogenase protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "DLDH|E3|OGDC-E3" E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex "LAD|GCSL" dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) Pyruvate dehydrogenase complex 1547 1988-05-11 2006-05-22 2020-05-05 1738 ENSG00000091140 OTTHUMG00000154813 uc003vet.5 AB209703 NM_000108 "CCDS78269|CCDS78268|CCDS5749" P09622 MGI:107450 RGD:735073 238331 121102 1.8.1.4 HGNC:2898 "ENST00000205402.10|NM_000108.5" HGNC:2898 +HGNC:2899 DLEC1 DLEC1 cilia and flagella associated protein protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "DLC1|CFAP81|FAP81" cilia and flagella associated protein 81 deleted in lung and esophageal cancer 1 Cilia and flagella associated 1491 1999-05-07 2019-01-21 2020-01-28 9940 ENSG00000008226 OTTHUMG00000131085 uc003cho.2 AB020522 NM_007337 CCDS2672 Q9Y238 10213508 MGI:2443671 RGD:1561649 604050 470200 HGNC:2899 "ENST00000308059.11|NM_007335.4" +HGNC:44545 DLEC1P1 DLEC1 pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 deleted in lung and esophageal cancer 1 pseudogene 1 2012-11-15 2019-01-21 2019-01-21 100421153 ENSG00000230123 OTTHUMG00000156032 NG_025566 PGOHUM00000237590 HGNC:44545 +HGNC:13747 DLEU1 deleted in lymphocytic leukemia 1 non-coding RNA RNA, long non-coding Approved 13q14.2-q14.3 13q14.2-q14.3 "LEU1|XTP6|NCRNA00021|LINC00021|BCMS1" "B-cell neoplasia-associated gene with multiple splicing|non-protein coding RNA 21|long intergenic non-protein coding RNA 21" "DLB1|BCMS" "deleted in lymphocytic leukemia 1|deleted in lymphocytic leukemia 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2000-11-28 2018-05-16 2018-05-16 10301 ENSG00000176124 OTTHUMG00000016934 uc058xbn.1 Y15227 NR_002605 O43261 "9395242|11406609" 605765 DLEU1 HGNC:13747 +HGNC:50496 DLEU1-AS1 DLEU1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 LINC01308 long intergenic non-protein coding RNA 1308 Antisense RNAs 1987 2014-05-09 2020-01-22 103689915 OTTHUMG00000016932 BM264234 NR_125753 DLEU1-AS1 HGNC:50496 +HGNC:13748 DLEU2 deleted in lymphocytic leukemia 2 non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 "LEU2|TRIM13OS|NCRNA00022|LINC00022|MIR15AHG" "non-protein coding RNA 22|long intergenic non-protein coding RNA 22|mir-15a-16-1 cluster host gene (non-protein coding)" "DLB2|BCMSUN|RFP2OS" "ret finger protein 2 opposite strand|deleted in lymphocytic leukemia, 2|deleted in lymphocytic leukemia 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2000-11-28 2018-05-16 2018-05-16 8847 ENSG00000231607 OTTHUMG00000016927 uc001vdo.1 Y15228 NR_002612 "9395242|11072235" 605766 dleu2 DLEU2 HGNC:13748 +HGNC:13225 DLEU2L deleted in lymphocytic leukemia 2 like non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 BCMSUNL BCMS upstream neighbor-like Long non-coding RNAs with non-systematic symbols 1992 2001-07-09 2006-04-10 2019-02-18 2019-03-06 79469 ENSG00000116652 OTTHUMG00000008984 uc001dbg.2 AF254117 NR_002771 11072235 HGNC:13225 +HGNC:17567 DLEU7 deleted in lymphocytic leukemia 7 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 FLJ44882 2005-02-22 2018-08-15 2018-08-15 220107 ENSG00000186047 OTTHUMG00000016936 uc001vex.3 AK126830 NM_198989 "CCDS76635|CCDS53869" Q6UYE1 14706829 MGI:2447771 RGD:1305071 618634 HGNC:17567 "ENST00000504404.2|NM_001306135.2" +HGNC:39966 DLEU7-AS1 DLEU7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 DLEU7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-18 2012-08-15 2020-01-22 100874074 OTTHUMG00000016935 uc001vey.4 NR_046551 DLEU7-AS1 HGNC:39966 +HGNC:2900 DLG1 discs large MAGUK scaffold protein 1 protein-coding gene gene with protein product Approved 3q29 03q29 "SAP97|SAP-97|hdlg|DLGH1|dJ1061C18.1.1" "discs large homolog 1|presynaptic protein SAP97|synapse-associated protein 97" "discs, large homolog 1 (Drosophila)|discs large homolog 1, scribble cell polarity complex component" "Membrane associated guanylate kinases|PDZ domain containing|Scribble complex|MicroRNA protein coding host genes" "904|1220|1224|1691" 1995-05-04 2016-05-24 2021-05-26 1739 ENSG00000075711 OTTHUMG00000047972 uc011bue.3 U13897 NM_004087 "CCDS56301|CCDS3327|CCDS75072|CCDS87192|CCDS43194|CCDS56300" Q12959 "7937897|8825652" MGI:107231 RGD:2505 601014 470204 HGNC:2900 "ENST00000667157.1|NM_001366207.1" HGNC:2900 +HGNC:44154 DLG1-AS1 DLG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 DLG1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100507086 ENSG00000227375 OTTHUMG00000155484 uc003fxq.4 BC039329 NR_038289 DLG1-AS1 HGNC:44154 +HGNC:2901 DLG2 discs large MAGUK scaffold protein 2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "PSD-93|PSD93|chapsyn-110|PPP1R58" protein phosphatase 1, regulatory subunit 58 "discs, large homolog 2, chapsyn-110 (Drosophila)|discs, large homolog 2 (Drosophila)|discs large homolog 2" "Protein phosphatase 1 regulatory subunits|Membrane associated guanylate kinases|PDZ domain containing" "694|904|1220" 1997-04-21 2016-05-24 2016-10-05 1740 ENSG00000150672 OTTHUMG00000134309 uc001paj.3 U32376 NM_001364 "CCDS73357|CCDS44691|CCDS44692|CCDS55782|CCDS44690|CCDS41696" Q15700 "8755482|9806853" MGI:1344351 RGD:619895 603583 470208 HGNC:2901 "ENST00000376104.7|NM_001142699.3" +HGNC:37132 DLG2-AS1 DLG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 "PSZA11q14|SZ-1" "DLG2AS|DLG2-AS" "DLG2 antisense RNA (non-protein coding)|DLG2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-08-18 2010-11-25 2012-08-15 2014-10-22 100302690 AF525782 13130513 dlg2as +HGNC:40179 DLG2-AS2 DLG2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Antisense RNAs 1987 2019-07-25 2019-07-25 101929043 ENSG00000255311 OTTHUMG00000167144 XR_007062804 HGNC:40179 +HGNC:2902 DLG3 discs large MAGUK scaffold protein 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "NE-Dlg|SAP102|SAP-102|NEDLG|KIAA1232|MRX90|PPP1R82" "neuroendocrine-dlg|protein phosphatase 1, regulatory subunit 82|synapse associated protein 102" "discs, large homolog 3 (neuroendocrine-dlg, Drosophila)|discs, large homolog 3 (Drosophila)|discs large homolog 3" "Protein phosphatase 1 regulatory subunits|Membrane associated guanylate kinases|PDZ domain containing" "694|904|1220" 1997-04-21 2016-05-24 2021-05-26 1741 ENSG00000082458 OTTHUMG00000021778 uc004dyi.3 U49089 NM_021120 "CCDS55439|CCDS14403|CCDS43967" Q92796 9598320 MGI:1888986 RGD:68423 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DLG3 300189 159924 HGNC:2902 "ENST00000374360.8|NM_021120.4" HGNC:2902 +HGNC:40182 DLG3-AS1 DLG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 DLG3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2021-07-22 100873930 ENSG00000231651 OTTHUMG00000021777 uc033ehj.2 NR_046586 DLG3-AS1 HGNC:40182 +HGNC:2903 DLG4 discs large MAGUK scaffold protein 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "PSD-95|PSD95|SAP90|SAP-90" "discs, large homolog 4 (Drosophila)|discs large homolog 4" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-11-07 2016-05-24 2016-05-24 1742 ENSG00000132535 OTTHUMG00000134327 uc010cly.4 U83192 NM_001365 "CCDS45599|CCDS45600|CCDS82050" P78352 9286702 MGI:1277959 RGD:68424 602887 470212 HGNC:2903 "ENST00000399506.9|NM_001321075.3" HGNC:2903 +HGNC:2904 DLG5 discs large MAGUK scaffold protein 5 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "P-dlg|KIAA0583" "discs, large homolog 5 (Drosophila)|discs large homolog 5" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1999-02-23 2016-05-24 2021-05-26 9231 ENSG00000151208 OTTHUMG00000018548 uc001jzk.4 U61843 NM_004747 CCDS7353 Q8TDM6 9738934 MGI:1918478 RGD:1308753 604090 HGNC:2904 "ENST00000372391.7|NM_004747.4" HGNC:2904 +HGNC:45109 DLG5-AS1 DLG5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2013-02-15 2013-02-15 100128292 ENSG00000233871 OTTHUMG00000018547 uc057ujv.1 NR_024585 DLG5-AS1 HGNC:45109 +HGNC:2905 DLGAP1 DLG associated protein 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "GKAP|SAPAP1|DAP-1" "discs, large (Drosophila) homolog-associated protein 1|discs large homolog associated protein 1" 1999-02-23 2016-05-24 2016-10-05 9229 ENSG00000170579 OTTHUMG00000131537 uc002kmf.4 AB000277 NM_001003809 "CCDS11836|CCDS56053|CCDS74191|CCDS56051|CCDS77146|CCDS56050|CCDS56049|CCDS42406|CCDS56052" O14490 "9024696|9286858" MGI:1346065 RGD:620223 605445 HGNC:2905 "ENST00000315677.8|NM_004746.4" +HGNC:31676 DLGAP1-AS1 DLGAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 "HsT914|FLJ35776" DLGAP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-13 2012-08-15 2020-01-30 649446 ENSG00000177337 OTTHUMG00000177863 uc010wza.5 NR_024101 31949128 DLGAP1-AS1 HGNC:31676 +HGNC:28146 DLGAP1-AS2 DLGAP1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 MGC11082 DLGAP1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-08-13 2012-08-15 2020-01-09 84777 ENSG00000262001 OTTHUMG00000177864 uc002kmi.4 BC005130 NR_119377 31899508 DLGAP1-AS2 HGNC:28146 +HGNC:27317 DLGAP1-AS3 DLGAP1 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 DLGAP1 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2012-08-13 2012-08-15 2012-10-12 201477 ENSG00000263724 OTTHUMG00000178391 uc002kml.1 NR_038895 12477932 DLGAP1-AS3 HGNC:27317 +HGNC:44333 DLGAP1-AS4 DLGAP1 antisense RNA 4 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 DLGAP1 antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2012-08-13 2012-08-15 2012-10-12 101410534 ENSG00000263878 OTTHUMG00000178387 uc031rhf.1 "BI755422|CK005798" NR_102696 DLGAP1-AS4 HGNC:44333 +HGNC:27586 DLGAP1-AS5 DLGAP1 antisense RNA 5 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 DLGAP1 antisense RNA 5 (non-protein coding) Antisense RNAs 1987 2012-08-13 2012-08-15 2012-10-12 284215 ENSG00000261520 OTTHUMG00000176106 uc021ugm.2 NR_036489 DLGAP1-AS5 HGNC:27586 +HGNC:2906 DLGAP2 DLG associated protein 2 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 DAP-2 "ERICH1-AS1|C8orf68" "discs, large (Drosophila) homolog-associated protein 2|discs large homolog associated protein 2|ERICH1 antisense RNA 1|chromosome 8 open reading frame 68|ERICH1 antisense RNA 1 (non-protein coding)" 1999-02-23 2016-05-24 2017-03-15 9228 ENSG00000198010 OTTHUMG00000163599 uc003wpl.4 AB000275 NM_004745 CCDS87572 Q9P1A6 "9286858|10854099" MGI:2443181 RGD:620224 605438 HGNC:2906 "ENST00000637795.2|NM_001346810.2" +HGNC:50467 DLGAP2-AS1 DLGAP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p23.3 08p23.3 Antisense RNAs 1987 2014-04-30 2014-04-30 100507435 ENSG00000253267 OTTHUMG00000163600 NR_103863 DLGAP2-AS1 HGNC:50467 +HGNC:30368 DLGAP3 DLG associated protein 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "SAPAP3|DAP3" "discs, large (Drosophila) homolog-associated protein 3|discs large homolog associated protein 3" 2004-03-17 2016-05-24 2016-10-05 58512 ENSG00000116544 OTTHUMG00000004049 uc057equ.1 AF131778 NM_021234 CCDS30670 O95886 "8619474|9110174" MGI:3039563 RGD:708349 611413 HGNC:30368 "ENST00000373347.6|NM_001080418.3" +HGNC:24476 DLGAP4 DLG associated protein 4 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "DAP4|KIAA0964|SAPAP4" "discs, large (Drosophila) homolog-associated protein 4|discs large homolog associated protein 4" 2004-03-17 2016-05-24 2016-05-24 22839 ENSG00000080845 OTTHUMG00000032390 uc002xff.4 AF088030 NM_014902 "CCDS13274|CCDS13275" Q9Y2H0 9115257 MGI:2138865 RGD:708350 616191 HGNC:24476 "ENST00000339266.10|NM_001365621.2" +HGNC:51223 DLGAP4-AS1 DLGAP4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 CCAT7 Antisense RNAs 1987 2014-08-08 2019-12-20 101926987 ENSG00000232907 OTTHUMG00000032391 BC039668 NR_109939 25663692 DLGAP4-AS1 HGNC:51223 +HGNC:16864 DLGAP5 DLG associated protein 5 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "KIAA0008|DLG1|HURP" DLG7 "discs, large homolog 7 (Drosophila)|discs, large (Drosophila) homolog-associated protein 5|discs large homolog associated protein 5" 2002-11-19 2008-05-30 2016-05-24 2016-05-24 9787 ENSG00000126787 OTTHUMG00000140310 uc001xbs.4 D13633 NM_014750 "CCDS9723|CCDS53897" Q15398 "7584026|7584028" MGI:2183453 RGD:1311247 617859 470206 HGNC:16864 "ENST00000247191.7|NM_014750.5" +HGNC:23945 DLGAP5P1 DLGAP5 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 "discs, large (Drosophila) homolog-associated protein 5 pseudogene 1|discs large homolog associated protein 5 pseudogene 1" 2009-12-17 2020-05-22 2020-05-22 360014 ENSG00000237195 OTTHUMG00000036007 NG_002932 12815422 PGOHUM00000233894 HGNC:23945 +HGNC:55016 DLGAP5P2 DLGAP5 pseudogene 2 pseudogene pseudogene Approved Xq21.32 Xq21.32 2020-05-22 2020-05-22 117981791 ENSG00000237873 NG_070707 +HGNC:2907 DLK1 delta like non-canonical Notch ligand 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "FA1|pG2|Pref-1|ZOG|Delta1" "delta-like homolog (Drosophila)|delta-like 1 homolog (Drosophila)" 1998-12-09 2016-05-16 2021-04-13 8788 ENSG00000185559 OTTHUMG00000171600 uc001yhs.5 U15979 NM_001317172 "CCDS81852|CCDS9963" P80370 "8095043|7925474" MGI:94900 RGD:619931 LRG_1044|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1044.xml 176290 159533 HGNC:2907 "ENST00000341267.9|NM_003836.7" +HGNC:21113 DLK2 delta like non-canonical Notch ligand 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MGC2487 EGFL9 "EGF-like-domain, multiple 9|delta-like 2 homolog (Drosophila)" 2003-05-20 2007-07-05 2016-05-16 2016-05-16 65989 ENSG00000171462 OTTHUMG00000014735 uc003ovb.5 AK055380 NM_023932 "CCDS75461|CCDS4897" Q6UY11 MGI:2146838 RGD:1309143 HGNC:21113 "ENST00000372488.8|NM_023932.4" +HGNC:2908 DLL1 delta like canonical Notch ligand 1 protein-coding gene gene with protein product Approved 6q27 06q27 "delta (Drosophila)-like 1|delta-like 1 (Drosophila)" 2000-02-11 2016-05-16 2021-05-26 28514 ENSG00000198719 OTTHUMG00000016078 uc063taz.1 AF003522 NM_005618 CCDS5313 O00548 MGI:104659 RGD:70949 606582 281953 HGNC:2908 "ENST00000366756.4|NM_005618.4" HGNC:2908 +HGNC:2909 DLL3 delta like canonical Notch ligand 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 SCDO1 "delta (Drosophila)-like 3|delta-like 3 (Drosophila)" 2000-03-15 2016-05-16 2021-05-26 10683 ENSG00000090932 OTTHUMG00000183067 uc002olw.3 AF241373 NM_016941 "CCDS12538|CCDS12537" Q9NYJ7 "10364530|10742114" MGI:1096877 RGD:70953 602768 121110 ligandId:10560 HGNC:2909 "ENST00000356433.10|NM_203486.3" HGNC:2909 +HGNC:2910 DLL4 delta like canonical Notch ligand 4 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "delta-like 4 homolog (Drosophila)|delta-like 4 (Drosophila)" 2000-07-31 2016-05-16 2021-05-26 54567 ENSG00000128917 OTTHUMG00000172511 uc001zng.3 AF253468 NM_019074 CCDS45232 Q9NR61 10837024 MGI:1859388 RGD:1309740 LRG_1268|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1268.xml 605185 438271 ligandId:8452 HGNC:2910 "ENST00000249749.7|NM_019074.4" HGNC:2910 +HGNC:2911 DLST dihydrolipoamide S-succinyltransferase protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "OGDC-E2|KGD2" "Dihydrolipoyllysine-residue succinyltransferase|2-oxoglutarate dehydrogenase complex component E2" DLTS dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 1989-06-30 2016-03-24 2020-05-11 1743 ENSG00000119689 OTTHUMG00000171483 uc001xqv.3 NM_001244883 CCDS9833 P36957 8009371 MGI:1926170 RGD:1359615 126063 2.3.1.61 HGNC:2911 "ENST00000334220.9|NM_001933.5" HGNC:2911 +HGNC:2912 DLSTP1 dihydrolipoamide S-succinyltransferase pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 DLSTP dihydrolipoamide S-succinyltransferase pseudogene (E2 component of 2-oxo-glutarate complex) 1994-07-22 2010-02-25 2010-02-25 2016-10-05 1744 ENSG00000181227 OTTHUMG00000009785 D29970 NG_002326 "8009371|8076640" PGOHUM00000295721 HGNC:2912 +HGNC:2914 DLX1 distal-less homeobox 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 distal-less homeo box 1 NKL subclass homeoboxes and pseudogenes 519 1994-05-24 2005-12-22 2015-08-25 1745 ENSG00000144355 OTTHUMG00000073951 uc002uhl.4 BC013010 NM_178120 "CCDS33328|CCDS2247" P56177 7907794 MGI:94901 RGD:1309593 600029 8426 470216 HGNC:2914 "ENST00000361725.5|NM_178120.5" +HGNC:2915 DLX2 distal-less homeobox 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 TES-1 distal-less homeo box 2 NKL subclass homeoboxes and pseudogenes 519 1992-05-05 2005-12-22 2014-11-19 1746 ENSG00000115844 OTTHUMG00000132276 uc002uhn.4 U51003 NM_004405 CCDS2248 Q07687 1354641 MGI:94902 RGD:1304853 126255 8427 470218 HGNC:2915 "ENST00000234198.9|NM_004405.4" +HGNC:50638 DLX2-DT DLX2 divergent transcript non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 TCONS_00003049 DLX2-AS1 DLX2 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-06-02 2018-03-22 2018-03-22 2018-03-22 104326193 ENSG00000236651 OTTHUMG00000154065 "DB036501|AA625909" NR_126376 DLX2-AS1 HGNC:50638 +HGNC:2916 DLX3 distal-less homeobox 3 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 distal-less homeo box 3 NKL subclass homeoboxes and pseudogenes 519 1995-05-16 2005-12-22 2021-05-26 1747 ENSG00000064195 OTTHUMG00000161892 uc002ipy.3 NM_005220 CCDS11556 O60479 7613049 MGI:94903 RGD:1304875 600525 8428 121113 HGNC:2916 "ENST00000434704.2|NM_005220.3" HGNC:2916 +HGNC:2917 DLX4 distal-less homeobox 4 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "DLX8|BP1" "DLX7|DLX9" NKL subclass homeoboxes and pseudogenes 519 1996-08-07 2016-10-25 1748 ENSG00000108813 OTTHUMG00000161839 uc002ipv.4 NM_001934 "CCDS11555|CCDS45728" Q92988 MGI:94904 RGD:1308744 601911 8429 457562 HGNC:2917 "ENST00000240306.5|NM_138281.3" HGNC:2917 +HGNC:2918 DLX5 distal-less homeobox 5 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 distal-less homeo box 5 NKL subclass homeoboxes and pseudogenes 519 1994-05-24 2005-12-22 2021-05-26 1749 ENSG00000105880 OTTHUMG00000154200 uc003uon.4 NM_005221 CCDS5647 P56178 7907794 MGI:101926 RGD:2506 LRG_1279|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1279.xml 600028 8430 291751 HGNC:2918 "ENST00000648378.1|NM_005221.6" HGNC:2918 +HGNC:2919 DLX6 distal-less homeobox 6 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 distal-less homeo box 6 NKL subclass homeoboxes and pseudogenes 519 1994-05-24 2005-12-22 2016-04-25 1750 ENSG00000006377 OTTHUMG00000154201 uc022ahu.2 NM_005222 CCDS47647 P56179 7907794 MGI:101927 RGD:1561539 600030 8431 470220 HGNC:2919 "ENST00000518156.3|NM_005222.4" HGNC:2919 +HGNC:37151 DLX6-AS1 DLX6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 "FLJ34048|Evf-2" NCRNA00212 "non-protein coding RNA 212|DLX6 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-07-29 2011-11-14 2012-08-15 2017-09-08 285987 ENSG00000231764 OTTHUMG00000154198 uc003uol.4 NR_015448 "16705037|28881158" MGI:2443217 evf2 DLX6-AS1 HGNC:37151 +HGNC:40183 DLX6-AS2 DLX6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 DLX6 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-11-15 2012-08-15 2016-11-11 100873931 +HGNC:53125 DM1-AS DM1 locus antisense RNA non-coding RNA RNA, long non-coding Approved 19q13.32 19q13.32 Antisense RNAs 1987 2017-02-16 2021-11-17 109729182 ENSG00000267395 OTTHUMG00000182333 NR_147193 28102759 HGNC:53125 +HGNC:30536 DMAC1 distal membrane arm assembly component 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 MGC4730 "C9orf123|TMEM261" "chromosome 9 open reading frame 123|transmembrane protein 261|distal membrane arm assembly complex 1" Mitochondrial respiratory chain complex assembly factors 645 2004-04-15 2017-06-01 2021-02-05 2021-02-05 90871 ENSG00000137038 OTTHUMG00000019539 BC009510 NM_033428 CCDS34989 Q96GE9 "21666724|27626371" MGI:1914178 RGD:1309148 617261 HGNC:30536 "ENST00000358227.5|NM_033428.3" +HGNC:49128 DMAC1P1 DMAC1 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 TMEM261P1 transmembrane protein 261 pseudogene 1 2013-09-11 2019-11-20 2019-11-20 2019-11-20 100289059 ENSG00000270814 OTTHUMG00000184800 NG_027714 PGOHUM00000246678 HGNC:49128 +HGNC:25496 DMAC2 distal membrane arm assembly component 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ10241 ATP5SL "ATP5S like|distal membrane arm assembly complex 2" Mitochondrial respiratory chain complex assembly factors 645 2007-12-13 2017-06-01 2021-02-05 2021-02-05 55101 ENSG00000105341 OTTHUMG00000182342 uc002oqw.3 AK001103 NM_018035 "CCDS82354|CCDS54271|CCDS54269|CCDS59390|CCDS59389|CCDS33032|CCDS82353|CCDS54270" Q9NW81 27626371 MGI:1913599 RGD:1549698 617262 HGNC:25496 "ENST00000221943.14|NM_018035.3" +HGNC:18799 DMAC2L distal membrane arm assembly component 2 like protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "HSU79253|ATPW" ATP5S "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)|ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)|ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B)|distal membrane arm assembly complex 2 like" 2003-01-15 2018-08-15 2021-02-05 2021-02-05 27109 ENSG00000125375 OTTHUMG00000170866 uc001wxw.3 U79253 NM_015684 "CCDS32075|CCDS32076|CCDS45102" Q99766 "11744738|8619474" MGI:1915305 RGD:1359208 618579 HGNC:18799 "ENST00000557421.7|NM_001382507.1" +HGNC:18291 DMAP1 DNA methyltransferase 1 associated protein 1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "DNMAP1|FLJ11543|KIAA1425|DNMTAP1|EAF2|MEAF2|SWC4" "Myb/SANT domain containing|SRCAP complex|Tip60/Nua4 histone acetyltransferase complex subunits" "532|1329|1634" 2003-03-12 2016-10-05 55929 ENSG00000178028 OTTHUMG00000007577 uc001clq.2 AB037846 NM_019100 CCDS509 Q9NPF5 "10888872|10718198" MGI:1913483 RGD:1311295 605077 HGNC:18291 "ENST00000372289.7|NM_019100.5" +HGNC:2926 DMBT1 deleted in malignant brain tumors 1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "GP340|muclin|SALSA|Gp-340|hensin|vomeroglandin" "salivary agglutinin|salivary scavenger and agglutinin" Scavenger receptor cysteine rich domain containing 1404 1997-09-05 2017-02-28 1755 ENSG00000187908 OTTHUMG00000019185 uc057wnp.1 NM_004406 "CCDS44491|CCDS44492|CCDS44490" Q9UGM3 "9288095|17548659" MGI:106210 RGD:61984 601969 HGNC:2926 "ENST00000338354.10|NM_001377530.1" +HGNC:49497 DMBT1L1 deleted in malignant brain tumors 1 like 1 (pseudogene) pseudogene pseudogene Approved 10q26.13 10q26.13 DMBT1P1 deleted in malignant brain tumors 1 pseudogene 1 2013-12-20 2019-11-19 2019-11-19 2020-01-09 375940 ENSG00000176584 OTTHUMG00000185790 NR_003570 MGI:1918645 PGOHUM00000238954 HGNC:49497 +HGNC:19026 DMBX1 diencephalon/mesencephalon homeobox 1 protein-coding gene gene with protein product Approved 1p33 01p33 PAXB OTX3 orthodenticle homolog 3 (Drosophila) PRD class homeoboxes and pseudogenes 521 2002-08-05 2004-03-30 2004-03-29 2016-10-05 127343 ENSG00000197587 OTTHUMG00000007982 uc001cpw.4 AB037699 NM_001387775 CCDS536 Q8NFW5 MGI:2153518 RGD:1308265 607410 8528 HGNC:19026 "ENST00000360032.4|NM_172225.2" HGNC:19026 +HGNC:2927 DMC1 DNA meiotic recombinase 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 LIM15 "DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination|DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)" 1999-10-29 2013-05-02 2014-11-19 11144 ENSG00000100206 OTTHUMG00000151088 uc003avz.3 D63882 NM_007068 "CCDS13973|CCDS63477" Q14565 "8602360|8590282|17541404" MGI:105393 RGD:1307611 602721 470222 HGNC:2927 "ENST00000216024.7|NM_007068.4" HGNC:2927 +HGNC:2928 DMD dystrophin protein-coding gene gene with protein product Approved Xp21.2-p21.1 Xp21.2-p21.1 "BMD|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272" muscular dystrophy, Duchenne and Becker types MRX85 "dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272|mental retardation, X-linked 85" "Zinc fingers ZZ-type|MicroRNA protein coding host genes" "91|1691" 1986-01-01 2008-08-01 2021-05-26 1756 ENSG00000198947 OTTHUMG00000021336 uc004dda.2 AF047505 NM_004006 "CCDS14232|CCDS14233|CCDS14234|CCDS75965|CCDS14231|CCDS55395|CCDS55394|CCDS48091" P11532 "3282674|3607877|23900271" MGI:94909 RGD:2507 "Leiden Muscular Dystrophy Pages|http://www.dmd.nl|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DMD|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DMD_d|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DMD|LRG_199|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_199.xml" 300377 121117 HGNC:2928 "ENST00000357033.9|NM_004006.3" HGNC:2928 +HGNC:40185 DMD-AS3 DMD antisense RNA 3 non-coding RNA RNA, long non-coding Approved Xp21.1 Xp21.1 DMD antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100873916 ENSG00000236828 OTTHUMG00000021334 uc064ymj.1 DMD-AS3 +HGNC:24475 DMGDH dimethylglycine dehydrogenase protein-coding gene gene with protein product Approved 5q14.1 05q14.1 ME2GLYDH 2004-05-12 2021-11-01 29958 ENSG00000132837 OTTHUMG00000108159 uc003kfs.5 AF111858 NM_013391 CCDS4044 Q9UI17 "10767172|11231903" MGI:1921379 RGD:620453 605849 244279 1.5.8.4 HGNC:24475 "ENST00000255189.8|NM_013391.3" HGNC:24475 +HGNC:25063 DMKN dermokine protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ZD52F10 2006-06-13 2016-04-25 93099 ENSG00000161249 OTTHUMG00000048101 uc002nzo.5 BC035311 NM_033317 "CCDS54252|CCDS46051|CCDS12463|CCDS86745|CCDS54251|CCDS77279|CCDS46052|CCDS46053|CCDS77278|CCDS46054|CCDS42549|CCDS86747|CCDS86746|CCDS54250" Q6E0U4 16374476 MGI:1920962 RGD:1561521 617211 HGNC:25063 "ENST00000339686.8|NM_033317.5" +HGNC:2932 DMP1 dentin matrix acidic phosphoprotein 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 dentin matrix acidic phosphoprotein SIBLING family 1279 1995-08-10 2008-08-29 2021-05-26 1758 ENSG00000152592 OTTHUMG00000130598 uc003hqv.4 U34037 NM_001079911 "CCDS3623|CCDS43249" Q13316 "8586437|9177774" MGI:94910 RGD:2508 600980 121129 HGNC:2932 "ENST00000339673.11|NM_004407.4" HGNC:2932 +HGNC:2933 DMPK DM1 protein kinase protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "DMK|DM1PK|MDPK|MT-PK" "dystrophia myotonica 1|DM protein kinase|myotonin protein kinase A|myotonic dystrophy associated protein kinase|thymopoietin homolog|Myotonin-protein kinase" "DM1|DM" "dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)|dystrophia myotonica protein kinase" AGC family kinases 1625 1997-10-10 2017-06-01 2021-05-26 1760 ENSG00000104936 OTTHUMG00000182334 uc002pdf.3 L19268 NM_004409 "CCDS74400|CCDS46117|CCDS46118|CCDS12674" Q09013 "1546325|1546326|27991661" MGI:94906 RGD:1309825 605377 121131 objectId:1505 2.7.11.1 HGNC:2933 "ENST00000291270.9|NM_004409.5" HGNC:2933 +HGNC:2934 DMRT1 doublesex and mab-3 related transcription factor 1 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "DMT1|CT154" DM domain expressed in testis 1 1998-08-13 2014-11-19 1761 ENSG00000137090 OTTHUMG00000019435 uc003zgv.5 AF130728 NM_021951 "CCDS6442|CCDS87636" Q9Y5R6 "9490411|10332030" MGI:1354733 RGD:621640 602424 168362 HGNC:2934 "ENST00000382276.8|NM_021951.3" +HGNC:2935 DMRT2 doublesex and mab-3 related transcription factor 2 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 terra-like protein 1999-07-09 2014-11-19 10655 ENSG00000173253 OTTHUMG00000019437 uc064rvw.1 AF130729 NM_006557 "CCDS6444|CCDS6445" Q9Y5R5 10332030 MGI:1330307 RGD:1309047 604935 470226 HGNC:2935 "ENST00000358146.7|NM_181872.6" HGNC:2935 +HGNC:13909 DMRT3 doublesex and mab-3 related transcription factor 3 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 testis-specific protein DMRTA3 DMRT-like family A3 2000-11-24 2001-12-07 2001-12-17 2014-11-19 58524 ENSG00000064218 OTTHUMG00000019436 uc003zgw.3 AJ301581 NM_021240 CCDS6443 Q9NQL9 "11543627|10729223" MGI:2449470 RGD:1306043 614754 470228 HGNC:13909 "ENST00000190165.3|NM_021240.4" +HGNC:13826 DMRTA1 DMRT like family A1 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 DMRT-like family A1 2000-11-24 2016-01-19 2016-01-19 63951 ENSG00000176399 OTTHUMG00000019693 uc003zpp.2 AJ290954 NM_022160 CCDS6514 Q5VZB9 MGI:2653627 RGD:1309796 614803 HGNC:13826 "ENST00000325870.3|NM_022160.3" +HGNC:13908 DMRTA2 DMRT like family A2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 DMRT-like family A2 2000-11-24 2016-01-19 2016-10-05 63950 ENSG00000142700 OTTHUMG00000007884 uc010onb.3 AJ301580 NM_032110 CCDS44141 Q96SC8 11863363 MGI:2653629 RGD:1308173 614804 470230 HGNC:13908 "ENST00000404795.4|NM_032110.3" HGNC:13908 +HGNC:13913 DMRTB1 DMRT like family B with proline rich C-terminal 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 DMRT-like family B with proline-rich C-terminal, 1 2000-11-24 2015-11-23 2016-10-05 63948 ENSG00000143006 OTTHUMG00000008080 uc001cvq.2 AJ291671 NM_033067 CCDS581 Q96MA1 MGI:1927125 RGD:1560921 614805 HGNC:13913 "ENST00000371445.3|NM_033067.3" +HGNC:13910 DMRTC1 DMRT like family C1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 DMRT-like family C1 2000-11-24 2016-01-19 2016-01-19 63947 ENSG00000269502 OTTHUMG00000021820 uc004ebc.4 AJ291670 NM_033053 CCDS35333 Q5HYR2 MGI:1918137 RGD:11451771 300878 HGNC:13910 "ENST00000615063.2|NM_033053.3" +HGNC:31686 DMRTC1B DMRT like family C1B protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 DMRT-like family C1B 2007-08-03 2016-01-19 2020-04-20 728656 ENSG00000184911 OTTHUMG00000021818 uc064zxu.1 NM_001080851 CCDS43971 Q5HYR2 MGI:3639121 HGNC:31686 "ENST00000334036.10|NM_001386972.1" +HGNC:13911 DMRTC2 DMRT like family C2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 DMRT-like family C2 2000-11-24 2016-01-19 2020-01-06 63946 ENSG00000142025 OTTHUMG00000182675 uc002ors.4 AJ291669 NM_001040283 CCDS33034 Q8IXT2 11863363 MGI:1918491 RGD:1583739 614806 HGNC:13911 "ENST00000269945.8|NM_001040283.3" +HGNC:14603 DMTF1 cyclin D binding myb like transcription factor 1 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "DMP1|DMTF|hDMP1|MRUL" cyclin D-binding Myb-like protein cyclin D binding myb-like transcription factor 1 Myb/SANT domain containing 532 2001-02-28 2016-02-03 2016-10-05 9988 ENSG00000135164 OTTHUMG00000154135 uc003uih.3 AF084530 NM_021145 "CCDS47633|CCDS5601" Q9Y222 "10095122|24958102" MGI:1344415 RGD:70966 608491 HGNC:14603 "ENST00000331242.12|NM_001142327.2" +HGNC:55864 DMTF1-AS1 DMTF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.12 07q21.12 Antisense RNAs 1987 2021-09-03 2021-09-03 101927420 ENSG00000224046 NR_136252 +HGNC:3382 DMTN dematin actin binding protein protein-coding gene gene with protein product Approved 8p21.3 08p21.3 DMT EPB49 erythrocyte membrane protein band 4.9 (dematin) 1995-09-29 2013-05-03 2013-05-03 2016-10-05 2039 ENSG00000158856 OTTHUMG00000097087 U28389 NM_001978 "CCDS78311|CCDS47820|CCDS6020|CCDS47821" Q08495 "8341682|12011427" MGI:99670 RGD:1311419 125305 470232 HGNC:3382 "ENST00000358242.6|NM_001387751.1" +HGNC:2936 DMWD DM1 locus, WD repeat containing protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "DMR-N9|gene59|D19S593E" "dystrophia myotonica-containing WD repeat motif|dystrophia myotonica, WD repeat containing" WD repeat domain containing 362 1997-10-10 2017-06-01 2017-06-01 1762 ENSG00000185800 OTTHUMG00000169044 uc002pdj.2 L19267 NM_004943 CCDS33054 Q09019 "1302022|27991661" MGI:94907 RGD:1594179 609857 HGNC:2936 "ENST00000270223.7|NM_004943.2" +HGNC:2937 DMXL1 Dmx like 1 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 1998-04-27 2016-01-14 2016-10-05 1657 ENSG00000172869 OTTHUMG00000128898 uc010jcl.1 AJ005821 NM_005509 "CCDS75289|CCDS4125" Q9Y485 10708522 MGI:2443926 RGD:1307692 605671 HGNC:2937 "ENST00000539542.6|NM_001290321.3" +HGNC:55568 DMXL1-DT DMXL1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Divergent transcripts 1990 2021-04-14 2021-04-14 105379143 ENSG00000249494 NR_134250 +HGNC:2938 DMXL2 Dmx like 2 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "RC3|KIAA0856|DFNA71" rabconnectin 3 WD repeat domain containing 362 1998-04-27 2016-01-14 2017-08-14 23312 ENSG00000104093 OTTHUMG00000131749 uc002abf.4 AB020663 NM_015263 "CCDS53945|CCDS53946|CCDS10141" Q8TDJ6 27657680 MGI:2444630 RGD:1586163 612186 457490 HGNC:2938 "ENST00000560891.6|NM_001378457.1" HGNC:2938 +HGNC:2939 DNA2 DNA replication helicase/nuclease 2 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 KIAA0083 DNA2L "DNA2 DNA replication helicase 2-like (yeast)|DNA replication helicase 2 homolog (yeast)" UPF1 like RNA helicases 1169 1996-06-10 2008-01-08 2013-05-13 2016-10-05 1763 ENSG00000138346 OTTHUMG00000018352 uc057tqx.1 D42046 NM_001080449 CCDS44415 P51530 "8938459|17032657|23352259" MGI:2443732 601810 332912 HGNC:2939 "ENST00000358410.8|NM_001080449.3" HGNC:2939 +HGNC:30539 DNAAF1 dynein axonemal assembly factor 1 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "FLJ25330|ODA7|CILD13|swt|DAU1" outer row dynein assembly 7 homolog (Chlamydomonas) LRRC50 "leucine rich repeat containing 50|dynein, axonemal, assembly factor 1|dynein (axonemal) assembly factor 1" Axonemal dynein assembly factors 1627 2005-05-26 2011-06-09 2016-06-27 2021-05-26 123872 ENSG00000154099 OTTHUMG00000128517 uc002fhl.5 BC024009 NM_178452 CCDS10943 Q8NEP3 19944405 MGI:1915520 RGD:1310542 613190 218045 HGNC:30539 "ENST00000378553.10|NM_178452.6" HGNC:30539 +HGNC:20188 DNAAF2 dynein axonemal assembly factor 2 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "FLJ10563|KTU|PF13|CILD10" kintoun C14orf104 "chromosome 14 open reading frame 104|dynein, axonemal, assembly factor 2|dynein (axonemal) assembly factor 2" Axonemal dynein assembly factors 1627 2002-12-20 2011-06-09 2016-06-27 2021-05-26 55172 ENSG00000165506 OTTHUMG00000152331 uc001wws.4 AK001425 NM_001083908 "CCDS9691|CCDS45100" Q9NVR5 MGI:1923566 RGD:1310311 612517 171068 HGNC:20188 "ENST00000298292.13|NM_018139.3" HGNC:20188 +HGNC:30492 DNAAF3 dynein axonemal assembly factor 3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ40069|FLJ36139|PF22|PCD" "C19orf51|CILD2" "chromosome 19 open reading frame 51|ciliary dyskinesia, primary 2|dynein, axonemal, assembly factor 3|dynein (axonemal) assembly factor 3" Axonemal dynein assembly factors 1627 2006-08-08 2012-03-09 2016-06-27 2021-05-26 352909 ENSG00000167646 OTTHUMG00000128547 uc002qjj.3 AK097388 NM_178837 "CCDS59422|CCDS58680|CCDS58679|CCDS12918" Q8N9W5 22387996 MGI:3588207 RGD:2323487 614566 296690 HGNC:30492 "ENST00000524407.7|NM_001256715.2" HGNC:30492 +HGNC:55292 DNAAF3-AS1 DNAAF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 Antisense RNAs 1987 2020-10-14 2020-10-14 101930593 ENSG00000267577 XR_001754014 +HGNC:21493 DNAAF4 dynein axonemal assembly factor 4 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "EKN1|FLJ37882|CILD25" dynein, axonemal, assembly factor 4 DYX1C1 dyslexia susceptibility 1 candidate 1 "Tetratricopeptide repeat domain containing|Axonemal dynein assembly factors" "769|1627" 2003-10-10 2017-03-20 2017-03-20 2021-09-13 161582 ENSG00000256061 OTTHUMG00000132008 uc002adc.3 NM_130810 "CCDS32244|CCDS32243|CCDS10154" Q8WXU2 "12954984|23872636|28041644" MGI:1914935 RGD:1549760 608706 360484 HGNC:21493 "ENST00000321149.7|NM_130810.4" HGNC:21493 +HGNC:43019 DNAAF4-CCPG1 DNAAF4-CCPG1 readthrough (NMD candidate) other readthrough Approved 15q21.3 15q21.3 DYX1C1-CCPG1 DYX1C1-CCPG1 readthrough (NMD candidate) 2011-09-23 2017-03-23 2017-03-23 2017-03-23 100533483 ENSG00000261771 OTTHUMG00000172694 uc059jmd.1 NR_037923 HGNC:43019 +HGNC:26013 DNAAF5 dynein axonemal assembly factor 5 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "FLJ20397|FLJ31671|FLJ39381|FLJ25564|CILD18" HEATR2 "HEAT repeat containing 2|dynein, axonemal, assembly factor 5|dynein (axonemal) assembly factor 5" "TOG domain containing|Axonemal dynein assembly factors" "1495|1627" 2006-05-19 2014-12-05 2016-06-27 2021-05-26 54919 ENSG00000164818 OTTHUMG00000151416 "AL832914|AK000404|AK056233" NM_017802 CCDS34580 Q86Y56 "23040496|25232951" MGI:3616079 RGD:1566028 614864 315800 HGNC:26013 "ENST00000297440.11|NM_017802.4" HGNC:26013 +HGNC:28570 DNAAF6 dynein axonemal assembly factor 6 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "MGC35261|NYSAR97|TWISTER" sarcoma antigen NY-SAR-97 "CXorf41|PIH1D3" "chromosome X open reading frame 41|PIH1 domain containing 3" Axonemal dynein assembly factors 1627 2004-09-08 2019-12-17 2019-12-17 2021-09-13 139212 ENSG00000080572 OTTHUMG00000022160 uc004enc.3 AL136112 NM_173494 CCDS14528 Q9NQM4 "28041644|12601173|24421334|28176794|29741156" MGI:3607720 RGD:1566312 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf41 300933 476289 HGNC:28570 "ENST00000372453.8|NM_173494.2" HGNC:28570 +HGNC:25081 DNAAF8 dynein axonemal assembly factor 8 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ43261|DKFZp686H2240" C16orf71 chromosome 16 open reading frame 71 Axonemal dynein assembly factors 1627 2006-06-13 2021-01-22 2021-01-22 2021-01-22 146562 ENSG00000166246 OTTHUMG00000129480 uc002cxn.4 AF447587 NM_139170 CCDS10521 Q8IYS4 12477932 MGI:1921934 RGD:1359596 HGNC:25081 "ENST00000299320.10|NM_139170.3" +HGNC:17721 DNAAF9 dynein axonemal assembly factor 9 protein-coding gene gene with protein product Approved 20p13 20p13 DKFZp434N061 shulin C20orf194 chromosome 20 open reading frame 194 Axonemal dynein assembly factors 1627 2003-01-30 2021-01-22 2021-01-22 2022-03-08 25943 ENSG00000088854 OTTHUMG00000031742 uc002wii.4 AL110249 NM_001009984 CCDS42851 Q5TEA3 33632841 MGI:1923029 RGD:1565616 614146 HGNC:17721 "ENST00000252032.10|NM_001009984.3" +HGNC:25176 DNAAF10 dynein axonemal assembly factor 10 protein-coding gene gene with protein product Approved 2p14 02p14 "FLJ31741|Monad" WDR92 WD repeat domain 92 "WD repeat domain containing|Axonemal dynein assembly factors" "362|1627" 2007-07-11 2021-01-22 2021-01-22 2021-01-22 116143 ENSG00000243667 OTTHUMG00000152561 uc002see.3 AK056303 NM_138458 "CCDS1884|CCDS58712" Q96MX6 16487927 MGI:2144224 RGD:1563863 610729 HGNC:25176 "ENST00000295121.11|NM_138458.4" +HGNC:16725 DNAAF11 dynein axonemal assembly factor 11 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "TSLRP|LRTP|CILD19|tilB" "leucine rich testes protein|seahorse" LRRC6 leucine rich repeat containing 6 Axonemal dynein assembly factors 1627 2004-07-09 2021-01-22 2021-01-22 2021-09-13 23639 ENSG00000129295 OTTHUMG00000164646 uc064qhs.1 U60666 NM_012472 CCDS6365 Q86X45 "10775177|23122589" MGI:1859553 RGD:1559937 614930 317373 HGNC:16725 "ENST00000620350.5|NM_012472.6" HGNC:16725 +HGNC:51151 DNAAF11P1 DNAAF11 pseudogene 1 pseudogene pseudogene Approved 11p12 11p12 LRRC6P1 leucine rich repeat containing 6 pseudogene 1 2014-07-30 2021-03-24 2021-03-24 2021-03-24 100420589 ENSG00000254784 OTTHUMG00000166456 NG_024476 PGOHUM00000290873 HGNC:51151 +HGNC:2940 DNAH1 dynein axonemal heavy chain 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "XLHSRF-1|DNAHC1|HDHC7|HL-11|HL11" dynein, axonemal, heavy polypeptide 1 Dyneins, axonemal inner arm I1/f complex subunits 2032 1995-11-15 2016-03-02 2021-05-26 25981 ENSG00000114841 OTTHUMG00000158378 uc011bef.3 U61738 NM_015512 CCDS46842 Q9P2D7 "8812413|9256245" MGI:107721 RGD:621795 603332 408654 HGNC:2940 "ENST00000420323.7|NM_015512.5" HGNC:2940 +HGNC:2948 DNAH2 dynein axonemal heavy chain 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "KIAA1503|FLJ46675" DNHD3 "dynein, axonemal, heavy polypeptide 2|dynein heavy chain domain 3" Dyneins, axonemal inner arm I1/f complex subunits 2032 1995-11-15 2016-03-02 2020-04-20 146754 ENSG00000183914 OTTHUMG00000178020 uc060avj.1 "U83570|AK128517" NM_020877 "CCDS32551|CCDS76937" Q9P225 9256245 MGI:107731 RGD:1565087 603333 HGNC:2948 "ENST00000572933.6|NM_020877.5" HGNC:2948 +HGNC:2949 DNAH3 dynein axonemal heavy chain 3 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "Dnahc3b|DLP3|Hsadhc3|DKFZp434N074" dynein, axonemal, heavy polypeptide 3 Dyneins, axonemal inner arm I1/f complex subunits 2032 1995-11-15 2016-03-02 2016-10-05 55567 ENSG00000158486 OTTHUMG00000090677 uc010vbe.3 U83574 NM_017539 CCDS10594 Q8TD57 "9256245|9373155" MGI:2683040 RGD:1305855 603334 HGNC:2949 +HGNC:2950 DNAH5 dynein axonemal heavy chain 5 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "Dnahc5|HL1|PCD|CILD3|KTGNR" dynein heavy chain 5 dynein, axonemal, heavy polypeptide 5 Dyneins, axonemal outer arm complex subunits 2031 1995-11-15 2016-03-02 2021-05-26 1767 ENSG00000039139 OTTHUMG00000090533 uc003jfd.4 AJ132090 NM_001369 CCDS3882 Q8TE73 "9256245|11788826" MGI:107718 RGD:1560828 603335 121137 HGNC:2950 "ENST00000265104.5|NM_001369.3" HGNC:2950 +HGNC:2951 DNAH6 dynein axonemal heavy chain 6 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "Dnahc6|HL-2|FLJ37357" DNHL1 "dynein, axonemal, heavy polypeptide 6|dynein heavy chain-like 1" Dyneins, axonemal inner arm I1/f complex subunits 2032 1995-11-15 2016-03-02 2021-09-13 1768 ENSG00000115423 OTTHUMG00000128957 uc010fgb.3 U61736 NM_001370 CCDS46348 Q9C0G6 8812413 MGI:107744 RGD:621797 603336 HGNC:2951 "ENST00000389394.8|NM_001370.2" HGNC:2951 +HGNC:18661 DNAH7 dynein axonemal heavy chain 7 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 KIAA0944 dynein, axonemal, heavy polypeptide 7 "EF-hand domain containing|Dyneins, axonemal inner arm I1/f complex subunits" "863|2032" 2002-05-22 2016-03-02 2021-09-13 56171 ENSG00000118997 OTTHUMG00000154438 uc002utj.4 AF327442 NM_018897 CCDS42794 Q8WXX0 "9373155|11877439" "MGI:2684953|MGI:3639762" RGD:621798 610061 HGNC:18661 "ENST00000312428.11|NM_018897.3" HGNC:18661 +HGNC:2952 DNAH8 dynein axonemal heavy chain 8 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 hdhc9 dynein, axonemal, heavy polypeptide 8 Dyneins, axonemal outer arm complex subunits 2031 1995-11-15 2016-03-02 2021-05-26 1769 ENSG00000124721 OTTHUMG00000016253 uc021yzh.2 Z83806 NM_001206927 CCDS75447 Q96JB1 9373155 MGI:107714 RGD:619986 603337 HGNC:2952 "ENST00000327475.11|NM_001206927.2" HGNC:2952 +HGNC:40188 DNAH8-AS1 DNAH8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 Antisense RNAs 1987 2019-07-25 2019-07-25 100131047 ENSG00000231150 OTTHUMG00000014637 NR_038401 HGNC:40188 +HGNC:55663 DNAH8-DT DNAH8 divergent transcript non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 Divergent transcripts 1990 2021-06-30 2021-06-30 121832808 ENSG00000236355 XR_007059572 +HGNC:2953 DNAH9 dynein axonemal heavy chain 9 protein-coding gene gene with protein product Approved 17p12 17p12 "Dnahc9|KIAA0357|HL20|HL-20|DNAL1|DYH9" DNAH17L "dynein, axonemal, heavy polypeptide 17-like|dynein, axonemal, heavy polypeptide 9" Dyneins, axonemal outer arm complex subunits 2031 1997-02-05 2016-03-02 2021-05-26 1770 ENSG00000007174 OTTHUMG00000130383 uc002gne.3 U61740 NM_001372 "CCDS11161|CCDS11160" Q9NYC9 "8812413|11247663" MGI:1289279 RGD:621799 603330 HGNC:2953 "ENST00000262442.9|NM_001372.4" HGNC:2953 +HGNC:2941 DNAH10 dynein axonemal heavy chain 10 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ43808 dynein, axonemal, heavy polypeptide 10 Dyneins, axonemal inner arm I1/f complex subunits 2032 2000-07-31 2016-03-02 2016-10-05 196385 ENSG00000197653 OTTHUMG00000154477 uc001uft.5 AJ132089 NM_001372106 CCDS9255 Q8IVF4 MGI:1860299 RGD:619988 605884 470234 HGNC:2941 "ENST00000673944.1|NM_001372106.1" +HGNC:37121 DNAH10OS dynein axonemal heavy chain 10 opposite strand protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ45278 dynein, axonemal, heavy chain 10 opposite strand (non-protein coding) 2009-08-15 2016-03-02 2016-03-02 642797 ENSG00000250091 OTTHUMG00000162010 uc058uvm.1 AK127211 P0CZ25 19726446 +HGNC:2942 DNAH11 dynein axonemal heavy chain 11 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "Dnahc11|DPL11|CILD7|DNAHC11|DNAHBL|DNHBL" "dynein, ciliary, heavy chain 11|dynein, heavy chain beta-like" dynein, axonemal, heavy polypeptide 11 Dyneins, axonemal outer arm complex subunits 2031 1999-02-15 2016-03-02 2021-05-26 8701 ENSG00000105877 OTTHUMG00000152524 uc031swp.2 U83569 NM_003777 CCDS64602 Q96DT5 9256245 MGI:1100864 RGD:621088 603339 121134 HGNC:2942 "ENST00000409508.8|NM_001277115.2" HGNC:2942 +HGNC:2943 DNAH12 dynein axonemal heavy chain 12 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "DLP12|Dnahc3|HL-19|hdhc3|DHC3|FLJ40427|FLJ44290" "DNHD2|DNAH12L|DNAH7L" "dynein, axonemal, heavy polypeptide 12|dynein heavy chain domain 2|dynein heavy domain 2|dynein, axonemal, heavy chain 12-like|dynein, axonemal, heavy chain 7-like" Dyneins, axonemal inner arm I1/f complex subunits 2032 1999-02-15 2016-03-02 2016-10-05 201625 ENSG00000174844 OTTHUMG00000158598 uc032rop.2 "U53532|AK126276" NM_178504 CCDS33771 Q6ZR08 "8812413|8666668" MGI:107720 RGD:619990 603340 HGNC:2943 "ENST00000495027.6|NM_001366028.2" +HGNC:2945 DNAH14 dynein axonemal heavy chain 14 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "Dnahc14|HL-18|HL18|DKFZp781B1548|MGC27277" C1orf67 "dynein, axonemal, heavy polypeptide 14|chromosome 1 open reading frame 67" Dyneins, axonemal inner arm I1/f complex subunits 2032 1997-02-05 2016-03-02 2021-09-13 127602 ENSG00000185842 OTTHUMG00000037447 uc001how.3 U61741 NM_001373 "CCDS86053|CCDS41472|CCDS44322" Q0VDD8 8812413 MGI:2444525 RGD:1582826 603341 HGNC:2945 "ENST00000682510.1|NM_001367479.1" +HGNC:2946 DNAH17 dynein axonemal heavy chain 17 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "DNEL2|FLJ40457" DNAHL1 "dynein, axonemal, heavy polypeptide 17|dynein, axonemal, heavy chain like 1|dynein, axonemal, heavy like 1" Dyneins, axonemal outer arm complex subunits 2031 1999-02-12 2016-03-02 2021-09-13 8632 ENSG00000187775 OTTHUMG00000150216 uc010dhp.2 AJ000522 NM_173628 CCDS11757 Q9UFH2 9545504 MGI:1917176 RGD:1563805 610063 HGNC:2946 "ENST00000389840.7|NM_173628.4" HGNC:2946 +HGNC:48594 DNAH17-AS1 DNAH17 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Antisense RNAs 1987 2013-05-21 2013-05-21 2020-10-15 100996295 ENSG00000267432 OTTHUMG00000177638 NR_102401 DNAH17-AS1 HGNC:48594 +HGNC:2954 DNAI1 dynein axonemal intermediate chain 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "DIC1|PCD|CILD1" dynein, axonemal, intermediate polypeptide 1 "WD repeat domain containing|Dyneins, axonemal outer arm complex subunits" "362|2031" 2000-06-16 2016-03-02 2021-05-26 27019 ENSG00000122735 OTTHUMG00000019825 uc033cpd.2 AF091619 NM_012144 "CCDS75829|CCDS6557" Q9UI46 "10577904|21953912" MGI:1916172 RGD:1565671 604366 121143 HGNC:2954 "ENST00000242317.9|NM_012144.4" HGNC:2954 +HGNC:18744 DNAI2 dynein axonemal intermediate chain 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "CILD9|DIC2" dynein intermediate chain 2 dynein, axonemal, intermediate polypeptide 2 "WD repeat domain containing|Dyneins, axonemal outer arm complex subunits" "362|2031" 2002-06-12 2016-03-02 2021-05-26 64446 ENSG00000171595 OTTHUMG00000178578 uc002jkf.4 AF250288 NM_023036 "CCDS11697|CCDS58589" Q9GZS0 "11153919|21953912" MGI:2685574 RGD:1359602 605483 169908 HGNC:18744 "ENST00000311014.11|NM_023036.6" HGNC:18744 +HGNC:30711 DNAI3 dynein axonemal intermediate chain 3 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "DIC3|FLJ30067|NYD-SP29" WDR63 WD repeat domain 63 "WD repeat domain containing|Dyneins, axonemal inner arm I1/f complex subunits" "362|2032" 2005-05-13 2020-05-04 2020-05-04 2020-05-04 126820 ENSG00000162643 OTTHUMG00000009953 uc001dkt.5 NM_145172 "CCDS702|CCDS72818" Q8IWG1 21953912 MGI:3045269 RGD:1563105 617968 HGNC:30711 "ENST00000294664.11|NM_145172.5" +HGNC:26252 DNAI4 dynein axonemal intermediate chain 4 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "DIC4|FLJ23129" WDR78 WD repeat domain 78 "WD repeat domain containing|Dyneins, axonemal inner arm I1/f complex subunits" "362|2032" 2005-07-18 2020-05-04 2020-05-04 2020-05-04 79819 ENSG00000152763 OTTHUMG00000009165 uc001dcx.5 BX648840 NM_024763 "CCDS635|CCDS44157" Q5VTH9 21953912 MGI:2385328 RGD:1311027 619156 HGNC:26252 "ENST00000371026.8|NM_024763.5" +HGNC:29599 DNAI7 dynein axonemal intermediate chain 7 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "LAS1|FLJ10921|PPP1R54" protein phosphatase 1, regulatory subunit 54 "CASC1|CFAP94" "cancer susceptibility 1|cilia and flagella associated protein 94" "Protein phosphatase 1 regulatory subunits|Dyneins, axonemal inner arm I1/f complex subunits" "694|2032" 2004-01-13 2021-02-08 2021-02-08 2021-02-08 55259 ENSG00000118307 OTTHUMG00000150195 uc001rgk.4 AK093102 NM_018272 "CCDS55811|CCDS31759|CCDS41763|CCDS41762|CCDS55810" Q6TDU7 14583591 MGI:2444480 RGD:1311213 616906 HGNC:29599 "ENST00000395987.8|NM_018272.5" +HGNC:5229 DNAJA1 DnaJ heat shock protein family (Hsp40) member A1 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "HSPF4|hdj-2|dj-2|NEDD7" neural precursor cell expressed, developmentally down-regulated 7 HSJ2 DnaJ (Hsp40) homolog, subfamily A, member 1 DNAJ (HSP40) heat shock proteins 584 1998-03-26 2015-11-19 2019-12-06 3301 ENSG00000086061 OTTHUMG00000019760 uc003zsd.2 L08069 NM_001314039 CCDS6533 P31689 "8334160|11147971" MGI:1270129 RGD:620942 602837 HGNC:5229 "ENST00000330899.5|NM_001539.4" HGNC:5229 +HGNC:39337 DNAJA1P1 DnaJ heat shock protein family (Hsp40) member A1 pseudogene 1 pseudogene pseudogene Approved 13q21.1 13q21.1 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 1 2010-11-29 2015-11-19 2015-11-19 100129308 ENSG00000223717 OTTHUMG00000016999 NG_011453 PGOHUM00000248412 HGNC:39337 +HGNC:39338 DNAJA1P2 DnaJ heat shock protein family (Hsp40) member A1 pseudogene 2 pseudogene pseudogene Approved 2q23.3 02q23.3 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 2 2010-11-29 2015-11-19 2015-11-19 100131207 ENSG00000236917 OTTHUMG00000153846 NG_021529 PGOHUM00000240391 HGNC:39338 +HGNC:39339 DNAJA1P3 DnaJ heat shock protein family (Hsp40) member A1 pseudogene 3 pseudogene pseudogene Approved Xq22.3 Xq22.3 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 3 2010-11-29 2015-11-19 2015-11-19 644588 ENSG00000215007 OTTHUMG00000022161 NG_022628 PGOHUM00000241494 HGNC:39339 +HGNC:39340 DNAJA1P4 DnaJ heat shock protein family (Hsp40) member A1 pseudogene 4 pseudogene pseudogene Approved 6q22.1 06q22.1 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 4 2010-11-29 2015-11-19 2015-11-19 728614 ENSG00000218089 OTTHUMG00000016197 NG_022322 PGOHUM00000243335 HGNC:39340 +HGNC:39341 DNAJA1P5 DnaJ heat shock protein family (Hsp40) member A1 pseudogene 5 pseudogene pseudogene Approved 1p21.1 01p21.1 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 5 2010-11-29 2015-11-19 2020-04-20 94236 ENSG00000162699 OTTHUMG00000010945 NR_033424 PGOHUM00000244822 HGNC:39341 +HGNC:39342 DNAJA1P6 DnaJ heat shock protein family (Hsp40) member A1 pseudogene 6 pseudogene pseudogene Approved 22q11.21 22q11.21 DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene 6 2010-11-29 2015-11-19 2015-11-19 100421542 ENSG00000228045 OTTHUMG00000150091 NG_033989 PGOHUM00000246215 HGNC:39342 +HGNC:14884 DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 "HIRIP4|DNAJ|CPR3|DNJ3" DnaJ (Hsp40) homolog, subfamily A, member 2 DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2016-10-05 10294 ENSG00000069345 OTTHUMG00000133104 uc002eeo.3 AF116720 NM_005880 CCDS10726 O60884 "9710638|11147971" MGI:1931882 RGD:71001 611322 HGNC:14884 "ENST00000317089.10|NM_005880.4" +HGNC:55375 DNAJA2-DT DNAJA2 divergent transcript non-coding RNA RNA, long non-coding Approved 16q11.2 16q11.2 Divergent transcripts 1990 2020-11-11 2020-11-11 119545626 ENSG00000261173 +HGNC:11808 DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 hTid-1 TID1 DnaJ (Hsp40) homolog, subfamily A, member 3 DNAJ (HSP40) heat shock proteins 584 1999-01-29 2015-11-19 2015-11-19 9093 ENSG00000103423 OTTHUMG00000129470 uc002cwk.4 AF061749 NM_001135110 "CCDS66930|CCDS10515|CCDS45400" Q96EY1 9683573 MGI:1933786 RGD:1306527 608382 HGNC:11808 "ENST00000262375.11|NM_005147.6" HGNC:11808 +HGNC:14885 DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 PRO1472 DnaJ (Hsp40) homolog, subfamily A, member 4 DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2016-10-05 55466 ENSG00000140403 OTTHUMG00000143733 uc059mcv.1 AF116663 NM_018602 "CCDS45317|CCDS45316|CCDS10299" Q8WW22 11147971 MGI:1927638 RGD:1310035 HGNC:14885 "ENST00000394852.8|NM_001130182.2" +HGNC:55412 DNAJA4-DT DNAJA4 divergent transcript non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 Divergent transcripts 1990 2021-01-06 2021-01-06 105370911 ENSG00000259708 XR_001751620 +HGNC:5270 DNAJB1 DnaJ heat shock protein family (Hsp40) member B1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "Hsp40|Sis1|RSPH16B" radial spoke 16 homolog B (Chlamydomonas) HSPF1 DnaJ (Hsp40) homolog, subfamily B, member 1 DNAJ (HSP40) heat shock proteins 584 1996-10-02 2015-11-19 2015-11-19 3337 ENSG00000132002 OTTHUMG00000183289 uc002myz.2 D49547 NM_006145 "CCDS74295|CCDS12312" P25685 "8975727|8250930" MGI:1931874 RGD:1304725 DNAJB1 604572 404128 HGNC:5270 "ENST00000254322.3|NM_006145.3" +HGNC:24988 DNAJB1P1 DnaJ heat shock protein family (Hsp40) member B1 pseudogene 1 pseudogene pseudogene Approved 2q32.3 02q32.3 psiHSP40 DNAJB1P "DnaJ (Hsp40) homolog, subfamily B, member 1 pseudogene|DnaJ (Hsp40) homolog, subfamily B, member 1 pseudogene 1" 2007-07-27 2010-02-25 2015-11-19 2016-10-05 171221 ENSG00000213946 OTTHUMG00000154320 NG_001318 11916264 PGOHUM00000240463 HGNC:24988 +HGNC:5228 DNAJB2 DnaJ heat shock protein family (Hsp40) member B2 protein-coding gene gene with protein product Approved 2q35 02q35 "HSPF3|CMT2T" HSJ1 DnaJ (Hsp40) homolog, subfamily B, member 2 DNAJ (HSP40) heat shock proteins 584 1997-08-15 2015-11-19 2021-05-26 3300 ENSG00000135924 OTTHUMG00000133134 uc002vkx.2 NM_001039550 "CCDS46519|CCDS2439" P25686 "1599432|10516435" MGI:1928739 RGD:1591035 604139 317743 HGNC:5228 "ENST00000336576.10|NM_006736.6" HGNC:5228 +HGNC:32397 DNAJB3 DnaJ heat shock protein family (Hsp40) member B3 other unknown Approved 2q37.1 02q37.1 HCG3 DnaJ (Hsp40) homolog, subfamily B, member 3 DNAJ (HSP40) heat shock proteins 584 2008-06-17 2015-11-19 2019-06-20 414061 ENSG00000227802 OTTHUMG00000059034 NM_001001394 Q8WWF6 MGI:1306822 RGD:1594215 HGNC:32397 +HGNC:14886 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 HLJ1 DnaJ (Hsp40) homolog, subfamily B, member 4 DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2019-12-06 11080 ENSG00000162616 OTTHUMG00000040905 uc001dij.4 U40992 NM_001317099 CCDS684 Q9UDY4 "9546042|11147971" MGI:1914285 RGD:1305826 611327 HGNC:14886 "ENST00000370763.6|NM_007034.5" +HGNC:14887 DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Hsc40 DnaJ (Hsp40) homolog, subfamily B, member 5 DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2019-12-06 25822 ENSG00000137094 OTTHUMG00000019840 uc003zvt.4 AF088982 NM_001135004 "CCDS35007|CCDS47959" O75953 "10570961|11147971" MGI:1930018 RGD:1307453 611328 HGNC:14887 "ENST00000682809.1|NM_001349723.3" +HGNC:49846 DNAJB5-DT DNAJB5 divergent transcript non-coding RNA RNA, long non-coding Approved 9p13.3 09p13.3 DNAJB5-AS1 DNAJB5 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-03-14 2018-03-22 2018-03-22 2018-03-22 101926900 ENSG00000281491 OTTHUMG00000189564 DA679664 NR_109756 HGNC:49846 +HGNC:50449 DNAJB5P1 DnaJ heat shock protein family (Hsp40) member B5 pseudogene 1 pseudogene pseudogene Approved 9q21.2 09q21.2 DnaJ (Hsp40) homolog, subfamily B, member 5 pseudogene 1 2014-04-30 2015-11-19 2020-01-22 ENSG00000230335 OTTHUMG00000020048 PGOHUM00000236217 +HGNC:14888 DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 MRJ LGMD1D "limb girdle muscular dystrophy 1D (autosomal dominant)|DnaJ (Hsp40) homolog, subfamily B, member 6" DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2021-05-26 10049 ENSG00000105993 OTTHUMG00000157242 uc003wnk.4 AB014888 NM_058246 "CCDS87571|CCDS47755|CCDS5946" O75190 "10319584|9915854|22366786" MGI:1344381 RGD:1308207 611332 296684 HGNC:14888 "ENST00000262177.9|NM_058246.4" HGNC:14888 +HGNC:54754 DNAJB6P1 DNAJB6 pseudogene 1 pseudogene pseudogene Approved 11q24.3 11q24.3 2020-01-08 2020-01-21 387820 ENSG00000254612 NG_030172 +HGNC:54755 DNAJB6P2 DNAJB6 pseudogene 2 pseudogene pseudogene Approved 8p21.2 08p21.2 2020-01-08 2020-01-21 100289047 ENSG00000251203 +HGNC:54756 DNAJB6P3 DNAJB6 pseudogene 3 pseudogene pseudogene Approved 2q35 02q35 2020-01-08 2020-01-21 101059990 ENSG00000231802 XR_007088093 +HGNC:54757 DNAJB6P4 DNAJB6 pseudogene 4 pseudogene pseudogene Approved 1p31.3 01p31.3 2020-01-08 2020-01-21 100130497 ENSG00000228523 +HGNC:54758 DNAJB6P5 DNAJB6 pseudogene 5 pseudogene pseudogene Approved 11q13.3 11q13.3 2020-01-08 2020-01-21 100129779 ENSG00000256441 NG_021791 +HGNC:54759 DNAJB6P6 DNAJB6 pseudogene 6 pseudogene pseudogene Approved 1q42.12 01q42.12 2020-01-08 2020-01-21 107985099 ENSG00000234247 +HGNC:54760 DNAJB6P7 DNAJB6 pseudogene 7 pseudogene pseudogene Approved 3q21.2 03q21.2 2020-01-08 2020-01-21 100421437 ENSG00000243508 NG_052987 +HGNC:54761 DNAJB6P8 DNAJB6 pseudogene 8 pseudogene pseudogene Approved 17q23.3 17q23.3 2020-01-08 2020-01-21 100421525 ENSG00000264529 NG_026261 +HGNC:24986 DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 HSC3 DnaJ (Hsp40) homolog, subfamily B, member 7 DNAJ (HSP40) heat shock proteins 584 2004-01-05 2015-11-19 2015-11-19 150353 ENSG00000172404 OTTHUMG00000151202 uc003azj.4 AF085232 NM_145174 CCDS14008 Q7Z6W7 12477932 MGI:1914012 RGD:1589047 611336 HGNC:24986 "ENST00000307221.5|NM_145174.2" +HGNC:23699 DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "MGC33884|CT156" DnaJ (Hsp40) homolog, subfamily B, member 8 DNAJ (HSP40) heat shock proteins 584 2003-12-02 2015-11-19 2015-11-19 165721 ENSG00000179407 OTTHUMG00000159690 uc003ekk.3 NM_153330 CCDS3048 Q8NHS0 MGI:1922801 RGD:1561981 611337 HGNC:23699 "ENST00000319153.4|NM_153330.6" +HGNC:41029 DNAJB8-AS1 DNAJB8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 DNAJB8 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2016-12-09 285224 ENSG00000242049 OTTHUMG00000159687 uc003ekl.1 NR_037890 27801428 DNAJB8-AS1 HGNC:41029 +HGNC:6968 DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 MDG1 DnaJ (Hsp40) homolog, subfamily B, member 9 DNAJ (HSP40) heat shock proteins 584 1997-08-18 2015-11-19 2016-10-05 4189 ENSG00000128590 OTTHUMG00000154866 uc003vfn.4 AB026908 NM_012328 CCDS5752 Q9UBS3 "9533036|11147971" MGI:1351618 RGD:3070 602634 HGNC:6968 "ENST00000249356.4|NM_012328.3" +HGNC:14889 DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "EDJ|HEDJ|ERdj3" DnaJ (Hsp40) homolog, subfamily B, member 11 DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2021-05-26 51726 ENSG00000090520 OTTHUMG00000156614 uc003fqi.4 AB028859 NM_001378451 CCDS3277 Q9UBS4 "10827079|11147971" MGI:1915088 RGD:1307373 611341 HGNC:14889 "ENST00000265028.8|NM_016306.6" HGNC:14889 +HGNC:14891 DNAJB12 DnaJ heat shock protein family (Hsp40) member B12 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "DJ10|FLJ20027" DnaJ (Hsp40) homolog, subfamily B, member 12 DNAJ (HSP40) heat shock proteins 584 2001-03-09 2015-11-19 2016-10-05 54788 ENSG00000148719 OTTHUMG00000018436 uc057tyc.1 AK000034 NM_001002762 CCDS7316 Q9NXW2 11147971 MGI:1931881 RGD:1359677 608376 HGNC:14891 "ENST00000444643.8|NM_017626.7" +HGNC:54762 DNAJB12P1 DNAJB12 pseudogene 1 pseudogene pseudogene Approved 2p14 02p14 2020-01-08 2020-01-21 100129140 ENSG00000237979 NG_021503 +HGNC:30718 DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "TSARG6|RSPH16A" radial spoke 16 homolog A (Chlamydomonas) "DnaJ (Hsp40) related, subfamily B, member 13|DnaJ (Hsp40) homolog, subfamily B, member 13" DNAJ (HSP40) heat shock proteins 584 2005-07-01 2015-11-19 2021-05-26 374407 ENSG00000187726 OTTHUMG00000168093 uc001ouo.3 AF516185 NM_153614 CCDS8227 P59910 MGI:1916637 RGD:1359131 610263 464155 HGNC:30718 "ENST00000339764.6|NM_153614.4" HGNC:30718 +HGNC:25881 DNAJB14 DnaJ heat shock protein family (Hsp40) member B14 protein-coding gene gene with protein product Approved 4q23 04q23 FLJ14281 DnaJ (Hsp40) homolog, subfamily B, member 14 DNAJ (HSP40) heat shock proteins 584 2005-06-30 2015-11-19 2015-11-19 79982 ENSG00000164031 OTTHUMG00000131049 uc003hvl.5 BC022248 NM_001031723.2 "CCDS75171|CCDS34035" Q8TBM8 MGI:1917854 RGD:1591949 617487 HGNC:25881 "ENST00000442697.7|NM_001031723.4" +HGNC:20090 DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 "DNAJL1|ERdj1|MTJ1" DnaJ (Hsp40) homolog, subfamily C, member 1 "Myb/SANT domain containing|DNAJ (HSP40) heat shock proteins" "532|584" 2002-12-17 2015-11-19 2016-10-05 64215 ENSG00000136770 OTTHUMG00000017800 uc001irc.4 AK026062 NM_022365 CCDS7136 Q96KC8 MGI:103268 RGD:2322144 611207 HGNC:20090 "ENST00000376980.8|NM_022365.4" +HGNC:13192 DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MPP11|MPHOSPH11|ZUO1|zuotin" ZRF1 "zuotin related factor 1|DnaJ (Hsp40) homolog, subfamily C, member 2" "Myb/SANT domain containing|DNAJ (HSP40) heat shock proteins" "532|584" 2000-05-12 2008-07-01 2015-11-19 2016-10-05 27000 ENSG00000105821 OTTHUMG00000157202 uc003vbo.4 X98260 NM_001129887 "CCDS47679|CCDS43628" Q99543 8885239 MGI:99470 RGD:620524 605502 HGNC:13192 "ENST00000379263.8|NM_014377.3" +HGNC:9439 DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "P58|P58IPK|HP58|ERdj6|p58(IPK)" "interferon-induced, double-stranded RNA-activated protein kinase inhibitor|protein kinase inhibitor of 58 kDa|endoplasmic reticulum DNA J domain-containing protein 6" PRKRI DnaJ (Hsp40) homolog, subfamily C, member 3 "DNAJ (HSP40) heat shock proteins|Tetratricopeptide repeat domain containing" "584|769" 1995-09-20 2015-11-19 2019-08-20 5611 ENSG00000102580 OTTHUMG00000017227 uc001vmq.3 U28424 NM_006260 CCDS9479 Q13217 "7511204|8824806" MGI:107373 RGD:708518 601184 449981 HGNC:9439 "ENST00000602402.6|NM_006260.5" HGNC:9439 +HGNC:39808 DNAJC3-DT DNAJC3 divergent transcript non-coding RNA RNA, long non-coding Approved 13q32.1 13q32.1 DNAJC3-AS1 "DNAJC3 antisense RNA 1 (non-protein coding)|DNAJC3 antisense RNA 1|DNAJC3 antisense RNA 1 (head to head)" Divergent transcripts 1990 2011-03-29 2018-03-22 2018-03-22 2018-03-22 100289274 ENSG00000247400 OTTHUMG00000166152 uc001vmo.5 NR_132117 DNAJC3-AS1 HGNC:39808 +HGNC:5271 DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 MCG18 HSPF2 DnaJ (Hsp40) homolog, subfamily C, member 4 DNAJ (HSP40) heat shock proteins 584 1997-04-21 2015-11-19 2016-10-05 3338 ENSG00000110011 OTTHUMG00000167792 uc001nys.4 AF012106 NM_001307980 "CCDS76424|CCDS41666" Q9NNZ3 "9473517|11147971" MGI:1927346 RGD:1308693 604189 HGNC:5271 "ENST00000628077.3|NM_005528.4" +HGNC:16235 DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ00118|FLJ13070|DNAJC5A" CLN4 "ceroid-lipofuscinosis, neuronal 4 (Kufs disease)|DnaJ (Hsp40) homolog, subfamily C, member 5" "DNAJ (HSP40) heat shock proteins|MicroRNA protein coding host genes" "584|1691" 2001-07-17 2015-11-19 2021-05-26 80331 ENSG00000101152 OTTHUMG00000033007 uc002yhf.4 NM_025219 CCDS13546 Q9H3Z4 MGI:892995 RGD:620516 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_831|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_831.xml" 611203 279781 HGNC:16235 "ENST00000360864.9|NM_025219.3" HGNC:16235 +HGNC:24138 DNAJC5B DnaJ heat shock protein family (Hsp40) member C5 beta protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "MGC26226|CSP-beta" DnaJ (Hsp40) homolog, subfamily C, member 5 beta DNAJ (HSP40) heat shock proteins 584 2004-03-16 2015-11-19 2019-02-19 85479 ENSG00000147570 OTTHUMG00000164470 uc003xvs.2 AF368276 NM_033105 CCDS6183 Q9UF47 29182667 MGI:1913576 RGD:1562486 613945 HGNC:24138 "ENST00000276570.10|NM_033105.6" +HGNC:24844 DNAJC5G DnaJ heat shock protein family (Hsp40) member C5 gamma protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ40417|CSP-gamma" DnaJ (Hsp40) homolog, subfamily C, member 5 gamma DNAJ (HSP40) heat shock proteins 584 2004-03-16 2015-11-19 2016-10-05 285126 ENSG00000163793 OTTHUMG00000097079 uc002rjl.2 AF368277 NM_173650 "CCDS77397|CCDS1744" Q8N7S2 MGI:3045263 RGD:1307426 613946 HGNC:24844 "ENST00000296097.8|NM_173650.3" +HGNC:15469 DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA0473|PARK19" auxilin DnaJ (Hsp40) homolog, subfamily C, member 6 "DNAJ (HSP40) heat shock proteins|C2 tensin-type domain containing" "584|837" 2001-03-30 2015-11-19 2021-05-26 9829 ENSG00000116675 OTTHUMG00000009066 uc001dcd.3 AB007942 NM_001256864 "CCDS58005|CCDS58004|CCDS30739" O75061 "11147971|22563501" MGI:1919935 RGD:1309900 608375 356123 HGNC:15469 "ENST00000371069.5|NM_001256864.2" HGNC:15469 +HGNC:12392 DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 TPR2 TTC2 DnaJ (Hsp40) homolog, subfamily C, member 7 "DNAJ (HSP40) heat shock proteins|Tetratricopeptide repeat domain containing" "584|769" 1997-12-12 2015-11-19 2015-11-19 7266 ENSG00000168259 OTTHUMG00000180862 uc002hyo.4 U46571 NM_001144766 "CCDS45678|CCDS45677" Q99615 "8836031|11147971" MGI:1928373 RGD:1303226 601964 HGNC:12392 "ENST00000457167.9|NM_003315.4" HGNC:12392 +HGNC:15470 DNAJC8 DnaJ heat shock protein family (Hsp40) member C8 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 SPF31 DnaJ (Hsp40) homolog, subfamily C, member 8 DNAJ (HSP40) heat shock proteins 584 2001-03-30 2015-11-19 2016-10-05 22826 ENSG00000126698 OTTHUMG00000003538 uc001bpn.4 AF083190 NM_014280 CCDS41292 O75937 11147971 MGI:1915848 RGD:1306024 HGNC:15470 "ENST00000263697.6|NM_014280.3" +HGNC:19928 DNAJC8P1 DnaJ heat shock protein family (Hsp40) member C8 pseudogene 1 pseudogene pseudogene Approved 14q13.2 14q13.2 DnaJ (Hsp40) homolog, subfamily C, member 8 pseudogene 1 2003-01-13 2015-11-19 2015-11-19 319111 ENSG00000259022 OTTHUMG00000171063 NG_002493 PGOHUM00000248133 HGNC:19928 +HGNC:19123 DNAJC9 DnaJ heat shock protein family (Hsp40) member C9 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "JDD1|SB73" DnaJ (Hsp40) homolog, subfamily C, member 9 DNAJ (HSP40) heat shock proteins 584 2002-08-16 2015-11-19 2016-10-05 23234 ENSG00000213551 OTTHUMG00000018461 uc010qkg.2 AF327347 NM_015190 CCDS7322 Q8WXX5 MGI:1915326 RGD:1305009 611206 HGNC:19123 "ENST00000372950.6|NM_015190.5" +HGNC:31432 DNAJC9-AS1 DNAJC9 and MRPS16 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 bA537A6.3 C10orf103 "chromosome 10 open reading frame 103|DNAJC9 antisense RNA 1 (non-protein coding)|DNAJC9 antisense RNA 1" Antisense RNAs 1987 2004-05-27 2012-04-30 2021-12-10 2021-12-10 414245 ENSG00000236756 OTTHUMG00000018460 uc021ptm.2 BC043233 NR_038373 A6NH13 DNAJC9-AS1 HGNC:31432 +HGNC:24637 DNAJC10 DnaJ heat shock protein family (Hsp40) member C10 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "ERdj5|PDIA19" protein disulfide isomerase family A, member 19 DnaJ (Hsp40) homolog, subfamily C, member 10 "DNAJ (HSP40) heat shock proteins|Protein disulfide isomerases" "584|692" 2004-04-20 2015-11-19 2015-11-19 54431 ENSG00000077232 OTTHUMG00000154209 uc002uow.3 NM_018981 "CCDS74613|CCDS33345" Q8IXB1 "12411443|12446677" MGI:1914111 RGD:1307813 607987 HGNC:24637 "ENST00000264065.12|NM_018981.4" +HGNC:25570 DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 FLJ10737 DnaJ (Hsp40) homolog, subfamily C, member 11 DNAJ (HSP40) heat shock proteins 584 2004-06-03 2015-11-19 2016-10-05 55735 ENSG00000007923 OTTHUMG00000001443 uc001aof.3 AF306695 NM_018198 CCDS87 Q9NVH1 12964007 MGI:2443386 RGD:1307731 614827 HGNC:25570 "ENST00000377577.10|NM_018198.4" +HGNC:28908 DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 JDP1 J domain protein 1 DnaJ (Hsp40) homolog, subfamily C, member 12 DNAJ (HSP40) heat shock proteins 584 2004-04-15 2015-11-19 2021-05-26 56521 ENSG00000108176 OTTHUMG00000018339 uc001jnb.4 AF176012 NM_021800 "CCDS7271|CCDS7272" Q9UKB3 10760603 MGI:1353428 RGD:1591898 606060 HGNC:28908 "ENST00000225171.7|NM_021800.3" HGNC:28908 +HGNC:30343 DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "RME8|KIAA0678" DnaJ (Hsp40) homolog, subfamily C, member 13 "DNAJ (HSP40) heat shock proteins|Armadillo like helical domain containing" "584|1492" 2004-03-17 2015-11-19 2021-05-26 23317 ENSG00000138246 OTTHUMG00000159674 uc003eor.4 AB014578 NM_015268 CCDS33857 O75165 "12438707|31082451" MGI:2676368 RGD:1308046 614334 400443 HGNC:30343 "ENST00000260818.11|NM_015268.4" HGNC:30343 +HGNC:24581 DNAJC14 DnaJ heat shock protein family (Hsp40) member C14 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "DNAJ|DRIP78|HDJ3|LIP6|FLJ32792" DnaJ (Hsp40) homolog, subfamily C, member 14 DNAJ (HSP40) heat shock proteins 584 2004-03-17 2015-11-19 2016-10-05 85406 ENSG00000135392 OTTHUMG00000170427 uc058pbx.1 AF141342 NM_032364 CCDS8894 Q6Y2X3 "11331877|11984006" MGI:1921580 RGD:620489 606092 HGNC:24581 "ENST00000678005.2|NM_032364.6" +HGNC:20325 DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 MCJ DNAJD1 "DnaJ (Hsp40) homolog, subfamily D, member 1|DnaJ (Hsp40) homolog, subfamily C, member 15" DNAJ (HSP40) heat shock proteins 584 2003-04-10 2005-06-30 2015-11-19 2016-10-05 29103 ENSG00000120675 OTTHUMG00000016813 uc001uyy.4 AF126743 NM_013238 CCDS9388 Q9Y5T4 11358853 MGI:1913398 RGD:1307154 615339 HGNC:20325 "ENST00000379221.4|NM_013238.3" +HGNC:29157 DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 KIAA0962 DnaJ (Hsp40) homolog, subfamily C, member 16 DNAJ (HSP40) heat shock proteins 584 2005-06-30 2015-11-19 2016-10-05 23341 ENSG00000116138 OTTHUMG00000002358 uc001aws.4 AB023179 NM_015291 "CCDS72710|CCDS30606" Q9Y2G8 MGI:2442146 RGD:1359395 HGNC:29157 "ENST00000375847.8|NM_015291.4" +HGNC:25556 DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ10634 DnaJ (Hsp40) homolog, subfamily C, member 17 "DNAJ (HSP40) heat shock proteins|RNA binding motif containing" "584|725" 2005-06-30 2015-11-19 2021-05-26 55192 ENSG00000104129 OTTHUMG00000130065 uc001zms.3 AK001496 NM_018163 CCDS10065 Q9NVM6 29773831 MGI:1916658 RGD:1308015 616844 HGNC:25556 "ENST00000220496.9|NM_018163.3" +HGNC:54782 DNAJC17P1 DNAJC17 pseudogene 1 pseudogene pseudogene Approved 2q32.3 02q32.3 2020-01-08 2020-01-21 645314 ENSG00000235218 NG_021279 +HGNC:28429 DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 MGC29463 DnaJ (Hsp40) homolog, subfamily C, member 18 DNAJ (HSP40) heat shock proteins 584 2005-06-30 2005-08-09 2015-11-19 2015-11-19 202052 ENSG00000170464 OTTHUMG00000129225 uc003len.4 AK024054 NM_152686 CCDS4214 Q9H819 MGI:1923844 RGD:1310237 HGNC:28429 "ENST00000302060.10|NM_152686.4" +HGNC:30528 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "TIMM14|Tim14|Pam18" mitochondrial import inner membrane translocase subunit TIM14 DnaJ (Hsp40) homolog, subfamily C, member 19 "DNAJ (HSP40) heat shock proteins|TIM23 complex" "584|1552" 2005-07-28 2015-11-19 2021-05-26 131118 ENSG00000205981 OTTHUMG00000158180 uc003fkt.4 NM_145261 "CCDS54684|CCDS33895" Q96DA6 19564938 MGI:1914963 RGD:1560220 LRG_743|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_743.xml 608977 168069 HGNC:30528 "ENST00000382564.8|NM_145261.4" HGNC:30528 +HGNC:45064 DNAJC19P1 DnaJ heat shock protein family (Hsp40) member C19 pseudogene 1 pseudogene pseudogene Approved 10q21.3 10q21.3 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 1 2013-02-07 2015-11-19 2015-11-19 100129853 ENSG00000237141 OTTHUMG00000018336 NG_030118 PGOHUM00000238823 HGNC:45064 +HGNC:45065 DNAJC19P2 DnaJ heat shock protein family (Hsp40) member C19 pseudogene 2 pseudogene pseudogene Approved 19q13.2 19q13.2 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 2 2013-02-07 2015-11-19 2015-11-19 100861445 ENSG00000269266 OTTHUMG00000182626 NG_032014 PGOHUM00000234323 HGNC:45065 +HGNC:45066 DNAJC19P3 DnaJ heat shock protein family (Hsp40) member C19 pseudogene 3 pseudogene pseudogene Approved 19q13.2 19q13.2 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 3 2013-02-07 2015-11-19 2015-11-19 100861443 ENSG00000268997 OTTHUMG00000182636 NG_032013 PGOHUM00000234324 HGNC:45066 +HGNC:45067 DNAJC19P4 DnaJ heat shock protein family (Hsp40) member C19 pseudogene 4 pseudogene pseudogene Approved 3p26.2 03p26.2 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 4 2013-02-07 2015-11-19 2015-11-19 106480691 ENSG00000225310 OTTHUMG00000154879 NG_043338 PGOHUM00000237521 HGNC:45067 +HGNC:45068 DNAJC19P5 DnaJ heat shock protein family (Hsp40) member C19 pseudogene 5 pseudogene pseudogene Approved 2q31.2 02q31.2 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 5 2013-02-07 2015-11-19 2015-11-19 100861453 ENSG00000225808 OTTHUMG00000154139 NG_032016 PGOHUM00000240440 HGNC:45068 +HGNC:45069 DNAJC19P6 DnaJ heat shock protein family (Hsp40) member C19 pseudogene 6 pseudogene pseudogene Approved 6q15 06q15 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 6 2013-02-07 2015-11-19 2015-11-19 100861449 ENSG00000220871 OTTHUMG00000015206 NG_032015 PGOHUM00000243707 HGNC:45069 +HGNC:45070 DNAJC19P7 DnaJ heat shock protein family (Hsp40) member C19 pseudogene 7 pseudogene pseudogene Approved 1p32.3 01p32.3 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 7 2013-02-07 2015-11-19 2015-11-19 100861458 ENSG00000237663 OTTHUMG00000008060 NG_032018 PGOHUM00000244030 HGNC:45070 +HGNC:45071 DNAJC19P8 DnaJ heat shock protein family (Hsp40) member C19 pseudogene 8 pseudogene pseudogene Approved 1q44 01q44 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 8 2013-02-07 2015-11-19 2015-11-19 100861455 ENSG00000232793 OTTHUMG00000040078 NG_032017 PGOHUM00000244527 HGNC:45071 +HGNC:45072 DNAJC19P9 DnaJ heat shock protein family (Hsp40) member C19 pseudogene 9 pseudogene pseudogene Approved 14q21.2 14q21.2 DnaJ (Hsp40) homolog, subfamily C, member 19 pseudogene 9 2013-02-07 2015-11-19 2015-11-19 644589 ENSG00000258608 OTTHUMG00000170808 NG_030241 PGOHUM00000248154 HGNC:45072 +HGNC:27030 DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "GS3|DNAJA5|JJJ1" JJJ1 DnaJ domain protein homolog (S. cerevisiae) DnaJ (Hsp40) homolog, subfamily C, member 21 DNAJ (HSP40) heat shock proteins 584 2007-11-19 2015-11-19 2021-05-26 134218 ENSG00000168724 OTTHUMG00000074103 uc003jjc.4 NM_194283 "CCDS3907|CCDS87294|CCDS34144" Q5F1R6 "28942353|15067379" MGI:1925371 RGD:621729 LRG_1214|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1214.xml 617048 HGNC:27030 "ENST00000648817.1|NM_001012339.3" HGNC:27030 +HGNC:25802 DNAJC22 DnaJ heat shock protein family (Hsp40) member C22 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "wus|FLJ13236" wurst homolog (Drosophila) DnaJ (Hsp40) homolog, subfamily C, member 22 DNAJ (HSP40) heat shock proteins 584 2008-06-04 2008-07-08 2015-11-19 2015-11-19 79962 ENSG00000178401 OTTHUMG00000169487 uc001rub.4 AK055747 NM_024902 CCDS8785 Q8N4W6 17558392 MGI:1920028 RGD:1311098 HGNC:25802 "ENST00000549441.7|NM_001304944.2" +HGNC:26979 DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 protein-coding gene gene with protein product Approved 11p13 11p13 JJJ3 "ZCSL3|DPH4" "zinc finger, CSL-type containing 3|DPH4 homolog (JJJ3, S. cerevisiae)|DPH4, JJJ3 homolog (S. cerevisiae)|DnaJ (Hsp40) homolog, subfamily C, member 24" "DNAJ (HSP40) heat shock proteins|Diphthamide biosynthesis pathway genes" "584|1808" 2004-07-14 2008-07-03 2015-11-19 2016-10-05 120526 ENSG00000170946 OTTHUMG00000133712 uc001msx.4 AL833128 NM_181706 CCDS7873 Q6P3W2 15485916 MGI:1919522 RGD:1564710 611072 HGNC:26979 "ENST00000465995.6|NM_181706.5" +HGNC:34187 DNAJC25 DnaJ heat shock protein family (Hsp40) member C25 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 bA16L21.2.1 DnaJ (Hsp40) homolog, subfamily C , member 25 DNAJ (HSP40) heat shock proteins 584 2008-06-17 2015-11-19 2015-11-19 548645 ENSG00000059769 OTTHUMG00000020491 uc004bfl.3 NM_001015882 CCDS43862 Q9H1X3 MGI:1919679 RGD:1561488 HGNC:34187 "ENST00000313525.4|NM_001015882.3" +HGNC:37501 DNAJC25-GNG10 DNAJC25-GNG10 readthrough other readthrough Approved 9q31.3 09q31.3 2009-11-05 2014-11-19 552891 ENSG00000244115 OTTHUMG00000150303 uc004bfn.4 NM_004125.2 MGI:1919679 HGNC:37501 +HGNC:30290 DNAJC27 DnaJ heat shock protein family (Hsp40) member C27 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 RabJS RBJ "rab and DnaJ domain containing|DnaJ (Hsp40) homolog, subfamily C, member 27" DNAJ (HSP40) heat shock proteins 584 2007-07-31 2008-08-20 2015-11-19 2015-11-19 51277 ENSG00000115137 OTTHUMG00000125524 uc002rft.2 NM_016544 "CCDS1716|CCDS74493" Q9NZQ0 14980719 MGI:2443036 RGD:1564414 613527 HGNC:30290 "ENST00000264711.7|NM_016544.3" +HGNC:42943 DNAJC27-AS1 DNAJC27 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 DNAJC27 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-07 2012-08-15 2012-10-12 729723 ENSG00000224165 OTTHUMG00000151981 uc061hen.1 NR_034113 DNAJC27-AS1 HGNC:42943 +HGNC:1297 DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 C21orf78 Orf28 C21orf55 "chromosome 21 open reading frame 55|DnaJ (Hsp40) homolog, subfamily C, member 28" DNAJ (HSP40) heat shock proteins 584 2000-05-23 2008-06-17 2015-11-19 2020-09-17 54943 ENSG00000177692 OTTHUMG00000065531 uc061zqn.1 AK000468 NM_001040192 CCDS13626 Q9NX36 MGI:2181053 RGD:1359589 HGNC:1297 "ENST00000381947.4|NM_001040192.3" +HGNC:16410 DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 WBSCR18 "Williams Beuren syndrome chromosome region 18|DnaJ (Hsp40) homolog, subfamily C, member 30" DNAJ (HSP40) heat shock proteins 584 2001-08-24 2008-06-17 2015-11-19 2015-11-19 84277 ENSG00000176410 OTTHUMG00000023290 uc003tys.2 AF412025 NM_032317 CCDS5556 Q96LL9 12073013 MGI:1913364 RGD:1595783 618202 HGNC:16410 "ENST00000395176.3|NM_032317.3" HGNC:16410 +HGNC:23247 DNAL1 dynein axonemal light chain 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "MGC12435|1700010H15RiK|CILD16" C14orf168 chromosome 14 open reading frame 168 Dyneins, axonemal outer arm complex subunits 2031 2003-10-30 2006-09-04 2016-03-02 2021-05-26 83544 ENSG00000119661 OTTHUMG00000171642 uc001xoq.5 BC005343 NM_031427 "CCDS45134|CCDS55928" Q4LDG9 15845866 MGI:1921462 RGD:1591349 610062 268087 HGNC:23247 "ENST00000553645.7|NM_031427.4" HGNC:23247 +HGNC:2955 DNAL4 dynein axonemal light chain 4 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "dJ327J16|PIG27" "dynein, axonemal, light polypeptide 4|dynein, axonemal, light 4" Dyneins, axonemal outer arm complex subunits 2031 1999-10-19 2016-03-02 2021-09-13 10126 ENSG00000100246 OTTHUMG00000151025 uc003awj.4 AL035366 NM_005740 CCDS13979 O96015 10591208 MGI:1859217 RGD:1309099 610565 HGNC:2955 "ENST00000216068.9|NM_005740.3" HGNC:2955 +HGNC:14353 DNALI1 dynein axonemal light intermediate chain 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "P28|hp28|dJ423B22.5" "inner dynein arm, homolog of chlamydomonas|dJ423B22.5 (axonemal dynein light chain (hp28))" dynein, axonemal, light intermediate polypeptide 1 2002-06-12 2016-03-02 2020-06-26 7802 ENSG00000163879 OTTHUMG00000004222 uc001cbj.3 AF006386 NM_003462 CCDS420 O14645 9284741 MGI:1922813 RGD:1309260 602135 HGNC:14353 "ENST00000652629.1|NM_003462.5" +HGNC:2956 DNASE1 deoxyribonuclease 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 DNL1 deoxyribonuclease I 1992-07-08 2016-07-18 2016-07-18 1773 ENSG00000213918 OTTHUMG00000129426 uc002cvu.4 NM_001351825 CCDS10507 P24855 2349940 MGI:103157 RGD:2510 125505 353586 3.1.21.1 HGNC:2956 "ENST00000246949.10|NM_005223.4" HGNC:2956 +HGNC:2957 DNASE1L1 deoxyribonuclease 1 like 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "DNAS1L1|XIB|DNASEX" DNase X DNL1L deoxyribonuclease I-like 1 1995-05-09 2016-07-18 2020-04-02 1774 ENSG00000013563 OTTHUMG00000033188 uc033fbl.1 L40817 NM_001009932 CCDS14747 P49184 "8541839|8654957" MGI:109628 RGD:1359588 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DNASE1L1 300081 HGNC:2957 "ENST00000369807.6|NM_001303620.2" +HGNC:2958 DNASE1L2 deoxyribonuclease 1 like 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 DNAS1L2 deoxyribonuclease I like 2 1997-05-15 2016-07-18 2019-08-21 1775 ENSG00000167968 OTTHUMG00000177086 uc002cpo.4 U62647 NM_001374 CCDS42105 Q92874 "9205125|1577479" MGI:1913955 RGD:1583566 602622 HGNC:2958 "ENST00000320700.10|NM_001374.3" +HGNC:2959 DNASE1L3 deoxyribonuclease 1 like 3 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "DNAS1L3|LSD" DNase gamma deoxyribonuclease I like 3 1997-05-15 2016-07-18 2021-05-26 1776 ENSG00000163687 OTTHUMG00000159153 uc003djo.3 AF047354 NM_004944 "CCDS2886|CCDS58836" Q13609 "9205125|9714828|14646506" MGI:1314633 RGD:620669 602244 291856 HGNC:2959 "ENST00000394549.7|NM_004944.4" HGNC:2959 +HGNC:2960 DNASE2 deoxyribonuclease 2, lysosomal protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "DNL|DNL2" deoxyribonuclease II, lysosomal 2001-06-22 2016-07-18 2016-10-05 1777 ENSG00000105612 OTTHUMG00000180535 uc002mvn.2 AF045937 NM_001375 CCDS12284 O00115 1586130 MGI:1329019 RGD:621457 126350 3.1.22.1 HGNC:2960 "ENST00000222219.8|NM_001375.3" +HGNC:28875 DNASE2B deoxyribonuclease 2 beta protein-coding gene gene with protein product Approved 1p31.1-p22.3 01p31.1-p22.3 DLAD deoxyribonuclease II beta 2004-12-02 2016-07-18 2018-02-13 58511 ENSG00000137976 OTTHUMG00000009860 uc001dju.2 AF274571 NM_021233 "CCDS44167|CCDS694" Q8WZ79 "12594037|11376952" MGI:1913283 RGD:70901 608057 HGNC:28875 "ENST00000370665.4|NM_021233.3" +HGNC:23799 DND1 DND microRNA-mediated repression inhibitor 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "MGC34750|RBMS4" dead end homolog 1 (zebrafish) RNA binding motif containing 725 2003-12-12 2013-07-31 2014-11-19 373863 ENSG00000256453 OTTHUMG00000129499 uc003lgt.4 AY321065 NM_194249 CCDS4236 Q8IYX4 12932328 MGI:2447763 RGD:1583648 609385 HGNC:23799 "ENST00000542735.2|NM_194249.3" +HGNC:31444 DND1P1 DND microRNA-mediated repression inhibitor 1 pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 dead end homolog 1 pseudogene 1 2004-04-19 2015-06-26 2017-10-25 644157 ENSG00000264070 OTTHUMG00000178253 NG_022468 PGOHUM00000294454 HGNC:31444 +HGNC:31445 DND1P2 DND microRNA-mediated repression inhibitor 1 pseudogene 2 pseudogene pseudogene Approved 17q21.31 17q21.31 dead end homolog 1 pseudogene 2 2004-04-19 2015-06-26 2015-06-26 644256 NG_022452 PGOHUM00000237092 HGNC:31445 +HGNC:24456 DNER delta/notch like EGF repeat containing protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "UNQ26|bet" delta/notch-like EGF repeat containing 2006-10-26 2015-11-12 2015-11-12 92737 ENSG00000187957 OTTHUMG00000153637 uc002vpv.4 AY358891 NM_139072 CCDS33390 Q8NFT8 "11950833|11997712" MGI:2152889 RGD:1359385 607299 HGNC:24456 "ENST00000341772.5|NM_139072.4" +HGNC:26532 DNHD1 dynein heavy chain domain 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FLJ32752|FLJ46184|FLJ35709|DKFZp686J0796" "DHCD1|C11orf47|DNHD1L|CCDC35" "chromosome 11 open reading frame 47|dynein heavy chain domain 1-like|coiled-coil domain containing 35" 2005-11-01 2005-11-28 2014-11-19 144132 ENSG00000179532 OTTHUMG00000133403 uc001mdw.5 AK128064 NM_144666 "CCDS7767|CCDS44532" Q96M86 12975309 MGI:1924755 RGD:1584052 617277 HGNC:26532 "ENST00000254579.11|NM_144666.3" +HGNC:33879 DNLZ DNL-type zinc finger protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "RP11-413M3.2|ZIM17|bA413M3.2|TIMM15|HEP" "translocase of inner mitochondrial membrane 15 homolog (yeast)|HSP70 escort protein" C9orf151 chromosome 9 open reading frame 151 Zinc fingers 26 2007-12-18 2007-12-18 2017-03-10 728489 ENSG00000213221 OTTHUMG00000020931 uc004chf.3 AL592301 NM_001080849 CCDS35179 Q5SXM8 "21530495|22162012" MGI:106559 RGD:1308635 HGNC:33879 "ENST00000371738.4|NM_001080849.3" +HGNC:2972 DNM1 dynamin 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 DNM Pleckstrin homology domain containing 682 1992-07-09 2021-05-26 1759 ENSG00000106976 OTTHUMG00000020733 uc064wcg.1 L07807 NM_004408 "CCDS6895|CCDS43882|CCDS75912|CCDS75911" Q05193 "2144893|9143509" MGI:107384 RGD:71096 602377 426934 3.6.5.5 HGNC:2972 "ENST00000372923.8|NM_004408.4" HGNC:2972 +HGNC:2973 DNM1L dynamin 1 like protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "DRP1|DVLP|HDYNIV|DYMPLE|VPS1" 2000-04-12 2016-07-05 2016-07-05 10059 ENSG00000087470 OTTHUMG00000169451 uc001rlf.4 AF000430 NM_012062 "CCDS61098|CCDS61096|CCDS61095|CCDS81680|CCDS61099|CCDS8730|CCDS8729|CCDS8728" O00429 "9348079|9731200" MGI:1921256 RGD:620416 603850 331806 3.6.5.5 HGNC:2973 "ENST00000549701.6|NM_012062.5" HGNC:2973 +HGNC:21122 DNM1P5 dynamin 1 pseudogene 5 pseudogene pseudogene Approved 15q14 15q14 DNM1DN5@ DNM1DN5 "DNM1 duplicon 5|DNM1 pseudogene 5" 2003-12-22 2008-10-13 2015-04-07 2020-04-07 728770 ENSG00000278582 OTTHUMG00000188120 AJ576290 NG_009127 15008788 PGOHUM00000261186 HGNC:21122 +HGNC:21126 DNM1P9 dynamin 1 pseudogene 9 pseudogene pseudogene Approved 15q24.3 15q24.3 DNM1DN9-1 "DNM1DN9@|DNM1DN9" "DNM1 duplicon 9 cluster|DNM1 duplicon 9|DNM1 pseudogene 9" 2003-12-22 2008-10-13 2015-04-07 2015-04-07 400403 AJ576256 NG_009125 15008788 HGNC:21126 +HGNC:21134 DNM1P17 dynamin 1 pseudogene 17 pseudogene pseudogene Approved 10p11.23 10p11.23 DNM1DN17@ DNM1DN17 "DNM1 duplicon 17|DNM1 pseudogene 17" 2003-12-22 2008-10-15 2015-04-07 2015-04-07 100131084 ENSG00000250833 OTTHUMG00000017888 AJ576284 NG_009124 15008788 PGOHUM00000261091 HGNC:21134 +HGNC:21135 DNM1P18 dynamin 1 pseudogene 18 pseudogene pseudogene Approved 22q13.2 22q13.2 DNM1DN18 "DNM1 duplicon 18|DNM1 pseudogene 18" 2003-12-22 2008-10-13 2015-04-07 2015-04-07 387553 AJ576285 NG_009128 15008788 HGNC:21135 +HGNC:21136 DNM1P19 dynamin 1 pseudogene 19 pseudogene pseudogene Approved 12q23.1 12q23.1 DNM1DN19 "DNM1 duplicon 19|DNM1 pseudogene 19" 2003-12-22 2008-10-13 2015-04-07 2015-04-07 387554 AJ576286 NG_009129 15008788 HGNC:21136 +HGNC:35171 DNM1P24 dynamin 1 pseudogene 24 pseudogene pseudogene Approved Yq11.23 Yq11.23 DNM1DN15-1 DNM1DN15@ DNM1 pseudogene 24 2008-10-24 2015-04-07 2015-04-07 100216505 ENSG00000242854 OTTHUMG00000045078 AJ576278 NG_004755 PGOHUM00000233839 HGNC:35171 +HGNC:35172 DNM1P25 dynamin 1 pseudogene 25 pseudogene pseudogene Approved Yq11.23 Yq11.23 DNM1DN15-3 DNM1DN15@ DNM1 pseudogene 25 2008-10-24 2015-04-07 2016-10-05 100216506 AJ576280 NG_004755 HGNC:35172 +HGNC:35173 DNM1P26 dynamin 1 pseudogene 26 pseudogene pseudogene Approved Yq11.23 Yq11.23 DNM1DN16-1 DNM1DN16@ DNM1 pseudogene 26 2008-10-24 2015-04-07 2015-04-07 100216507 AJ576281 NG_004755 HGNC:35173 +HGNC:35174 DNM1P27 dynamin 1 pseudogene 27 pseudogene pseudogene Approved Yq11.23 Yq11.23 DNM1DN16-3 DNM1DN16@ DNM1 pseudogene 27 2008-10-24 2015-04-07 2015-04-07 100216514 AJ576283 NG_004755 HGNC:35174 +HGNC:35175 DNM1P28 dynamin 1 pseudogene 28 pseudogene pseudogene Approved 15q13.2 15q13.2 "DNM1DN3-1|DNM1DN3-3" DNM1DN3@ DNM1 pseudogene 28 2008-10-24 2015-04-07 2015-04-07 100132031 ENSG00000261792 OTTHUMG00000175636 "AJ576300|AJ576304" NG_009142 PGOHUM00000261166 HGNC:35175 +HGNC:35176 DNM1P29 dynamin 1 pseudogene 29 pseudogene pseudogene Approved 15q13.2 15q13.2 DNM1DN3-2 DNM1DN3@ DNM1 pseudogene 29 2008-10-24 2015-04-07 2015-04-07 100132204 AJ576303 NG_009141 PGOHUM00000261184 HGNC:35176 +HGNC:35177 DNM1P30 dynamin 1 pseudogene 30 pseudogene pseudogene Approved 15q13.2 15q13.2 "DNM1DN3-4|DNM1DN4-3" "DNM1DN3@|DNM1DN4@" DNM1 pseudogene 30 2008-10-24 2015-04-07 2015-04-07 728388 ENSG00000260897 OTTHUMG00000175639 "AJ576305|AJ576308" NG_009071 PGOHUM00000261167 HGNC:35177 +HGNC:35178 DNM1P31 dynamin 1 pseudogene 31 pseudogene pseudogene Approved 15q13.3 15q13.3 DNM1DN4-2 DNM1DN4@ DNM1 pseudogene 31 2008-10-24 2015-04-07 2015-04-07 644153 ENSG00000261491 OTTHUMG00000175394 AJ576307 NG_009133 PGOHUM00000258949 HGNC:35178 +HGNC:35179 DNM1P32 dynamin 1 pseudogene 32 pseudogene pseudogene Approved 15q13.3 15q13.3 DNM1DN4-5 DNM1DN4@ DNM1 pseudogene 32 2008-10-24 2015-04-07 2015-04-07 100132100 ENSG00000261708 OTTHUMG00000175397 AJ576310 NG_009139 PGOHUM00000261185 HGNC:35179 +HGNC:35180 DNM1P33 dynamin 1 pseudogene 33 pseudogene pseudogene Approved 15q24.1 15q24.1 DNM1DN7-2 DNM1DN7@ DNM1 pseudogene 33 2008-10-24 2015-04-07 2015-04-07 554175 ENSG00000260096 OTTHUMG00000173034 AJ576301 XR_016015 PGOHUM00000261192 HGNC:35180 +HGNC:35181 DNM1P34 dynamin 1 pseudogene 34 pseudogene pseudogene Approved 15q24.2 15q24.2 "DNM1DN8-1|DNM1DN8-5" DNM1DN8@ DNM1 pseudogene 34 2008-10-24 2015-04-07 2015-04-07 729809 ENSG00000260357 OTTHUMG00000172673 AJ576251 NG_009143 Q6PK57 PGOHUM00000261173 HGNC:35181 +HGNC:35182 DNM1P35 dynamin 1 pseudogene 35 pseudogene pseudogene Approved 15q24.2 15q24.2 DNM1DN8-2 DNM1DN8@ DNM1 pseudogene 35 2008-10-24 2015-04-07 2015-08-19 100128285 ENSG00000246877 OTTHUMG00000177189 uc002bay.1 AJ576252 NR_024595 PGOHUM00000293022 HGNC:35182 +HGNC:35186 DNM1P36 dynamin 1 pseudogene 36 pseudogene pseudogene Approved 15q25.2 15q25.2 DNM1DN8-3 DNM1DN8@ DNM1 pseudogene 36 2008-10-24 2015-04-07 2015-04-07 100216515 AJ576253 NG_009135 HGNC:35186 +HGNC:35187 DNM1P37 dynamin 1 pseudogene 37 pseudogene pseudogene Approved 15q25.1 15q25.1 DNM1DN10-1 DNM1DN10@ DNM1 pseudogene 37 2008-10-24 2015-04-07 2015-04-07 100216516 AJ576268 NG_009136 HGNC:35187 +HGNC:35188 DNM1P38 dynamin 1 pseudogene 38 pseudogene pseudogene Approved 15q25.2 15q25.2 "DNM1DN10-2|DNM1DN11-8" "DNM1DN10@|DNM1P42|DNM1DN11@" "DNM1 pseudogene 42|DNM1 pseudogene 38" 2008-10-24 2015-04-07 2015-04-07 100216517 ENSG00000259637 OTTHUMG00000172546 AJ576269 NG_009137 PGOHUM00000258883 HGNC:35188 +HGNC:35189 DNM1P39 dynamin 1 pseudogene 39 pseudogene pseudogene Approved 15q25.2 15q25.2 DNM1DN11-3 DNM1DN11@ DNM1 pseudogene 39 2008-10-24 2015-04-07 2015-04-07 100216518 AJ576259 NG_009138 +HGNC:35190 DNM1P40 dynamin 1 pseudogene 40 pseudogene pseudogene Approved 15q25.2 15q25.2 DNM1DN11-5 DNM1DN11@ DNM1 pseudogene 40 2008-10-24 2015-04-07 2015-04-07 400433 AJ576261 NG_009132 HGNC:35190 +HGNC:35191 DNM1P41 dynamin 1 pseudogene 41 pseudogene pseudogene Approved 15q25.2 15q25.2 DNM1DN11-6 DNM1DN11@ DNM1 pseudogene 41 2008-10-24 2015-04-07 2016-11-09 440299 ENSG00000280038 OTTHUMG00000172494 uc059mrb.1 AJ576262 NR_033787 HGNC:35191 +HGNC:35193 DNM1P43 dynamin 1 pseudogene 43 pseudogene pseudogene Approved 15q25.2 15q25.2 DNM1DN11-10 DNM1DN11@ DNM1 pseudogene 43 2008-10-24 2015-04-07 2015-04-07 100216466 AJ576266 NG_009070 HGNC:35193 +HGNC:35194 DNM1P44 dynamin 1 pseudogene 44 pseudogene pseudogene Approved 15q25.2 15q25.2 DNM1DN11-13 DNM1DN11@ DNM1 pseudogene 44 2008-10-24 2015-04-07 2015-04-07 440303 AJ576312 NG_009148 HGNC:35194 +HGNC:35195 DNM1P45 dynamin 1 pseudogene 45 pseudogene pseudogene Approved 15q25.3 15q25.3 DNM1DN12-2 DNM1DN12@ DNM1 pseudogene 45 2008-10-24 2015-04-07 2015-04-07 100216542 AJ576271 NG_009145 HGNC:35195 +HGNC:35199 DNM1P46 dynamin 1 pseudogene 46 pseudogene pseudogene Approved 15q26.3 15q26.3 "DNM1DN14.2|FLJ45937|DKFZp434I1020" "DNM1DN14@|C15orf51" "chromosome 15 open reading frame 51|DNM1 pseudogene 46" 2008-10-24 2015-04-07 2015-04-07 196968 ENSG00000182397 OTTHUMG00000149852 AJ576275 NR_003260 Q6ZS02 PGOHUM00000261181 HGNC:35199 +HGNC:35200 DNM1P47 dynamin 1 pseudogene 47 pseudogene pseudogene Approved 15q26.3 15q26.3 DNM1DN14-3 DNM1DN14@ DNM1 pseudogene 47 2008-10-24 2015-04-07 2015-04-07 100216544 ENSG00000259660 OTTHUMG00000172265 AJ576276 NG_009149 PGOHUM00000261196 HGNC:35200 +HGNC:38801 DNM1P48 dynamin 1 pseudogene 48 pseudogene pseudogene Approved Yq11.23 Yq11.23 DNM1 pseudogene 48 2010-08-05 2015-04-07 2015-04-07 100418739 ENSG00000239304 OTTHUMG00000045285 NG_004755 PGOHUM00000234083 HGNC:38801 +HGNC:47040 DNM1P49 dynamin 1 pseudogene 49 pseudogene pseudogene Approved 15q24.2 15q24.2 DNM1DN8@ DNM1 pseudogene 49 2013-05-07 2015-04-07 2015-08-17 730058 ENSG00000261820 OTTHUMG00000172796 NG_033232 PGOHUM00000293023 HGNC:47040 +HGNC:48499 DNM1P50 dynamin 1 pseudogene 50 pseudogene pseudogene Approved 15q13.2 15q13.2 DNM1 pseudogene 50 2013-05-16 2015-04-07 2020-04-20 101927579 ENSG00000259890 OTTHUMG00000175652 NR_145478 PGOHUM00000261168 HGNC:48499 +HGNC:48500 DNM1P51 dynamin 1 pseudogene 51 pseudogene pseudogene Approved 15q25.2 15q25.2 DNM1 pseudogene 51 2013-05-16 2015-04-07 2016-02-03 ENSG00000235370 OTTHUMG00000172438 PGOHUM00000262075 +HGNC:2974 DNM2 dynamin 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "DYNII|DYN2|CMTDIB|CMTDI1|DI-CMTB|CMT2M" "dynamin II|cytoskeletal protein" "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 1996-10-11 2021-05-26 1785 ENSG00000079805 OTTHUMG00000180694 uc002mpu.3 NM_004945 "CCDS59351|CCDS32908|CCDS32907|CCDS45968|CCDS45969" P50570 "7590285|9143510" MGI:109547 RGD:2513 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_238|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_238.xml" DNM2 602378 121147 HGNC:2974 "ENST00000389253.9|NM_001005361.3" HGNC:2974 +HGNC:29125 DNM3 dynamin 3 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 KIAA0820 Dyna III "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2004-03-12 2016-10-05 26052 ENSG00000197959 OTTHUMG00000034913 uc001gif.5 AL136712 NM_015569 "CCDS60356|CCDS86032|CCDS53431|CCDS44276" Q9UQ16 10048485 MGI:1341299 RGD:727949 611445 470236 HGNC:29125 "ENST00000627582.3|NM_015569.5" +HGNC:41494 DNM3-IT1 DNM3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q24.3 01q24.3 DNM3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874284 ENSG00000233540 OTTHUMG00000046154 uc057nib.1 NR_046845 DNM3-IT1 HGNC:41494 +HGNC:41228 DNM3OS DNM3 opposite strand/antisense RNA non-coding RNA RNA, long non-coding Approved 1q24.3 01q24.3 MIR199A2HG MIR199A2 host gene (non-protein coding) DNM3-AS1 DNM3 antisense RNA 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2011-05-20 2011-11-14 2012-08-15 2017-03-10 100628315 ENSG00000230630 OTTHUMG00000040855 uc031prh.2 NR_038397 "19029138|20400975" DNM3OS HGNC:41228 +HGNC:30373 DNMBP dynamin binding protein protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "KIAA1010|Tuba|ARHGEF36" scaffold protein TUBA "Dbl family Rho GEFs|BAR and Dbl domain containing" "722|1924" 2004-04-05 2016-10-05 23268 ENSG00000107554 OTTHUMG00000018897 uc001kqj.2 AL833283 NM_015221 "CCDS81495|CCDS7485|CCDS81494" Q6XZF7 "10231032|14506234" MGI:1917352 RGD:1583840 611282 HGNC:30373 "ENST00000324109.9|NM_015221.4" HGNC:30373 +HGNC:20431 DNMBP-AS1 DNMBP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 "FLJ40792|bA287G8.2" NCRNA00093 "non-protein coding RNA 93|DNMBP antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-09-03 2011-03-30 2012-08-15 2012-10-12 100188954 ENSG00000227695 OTTHUMG00000018898 uc001kqk.2 AK098111 NR_024130 DNMBP-AS1 HGNC:20431 +HGNC:2976 DNMT1 DNA methyltransferase 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MCMT|CXXC9" DNMT DNA (cytosine-5-)-methyltransferase 1 "Zinc fingers CXXC-type|7BS C5-cytosine DNA/RNA methyltransferases" "136|2060" 1991-06-04 2016-06-21 2021-05-26 1786 ENSG00000130816 OTTHUMG00000180397 uc002mng.4 X63692 NM_001379 "CCDS45958|CCDS12228" P26358 1594447 MGI:94912 RGD:620979 LRG_362|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_362.xml 126375 270026 objectId:2605 2.1.1.37 HGNC:2976 "ENST00000359526.9|NM_001130823.3" HGNC:2976 +HGNC:2978 DNMT3A DNA methyltransferase 3 alpha protein-coding gene gene with protein product Approved 2p23.3 02p23.3 DNA (cytosine-5-)-methyltransferase 3 alpha "PWWP domain containing|MicroRNA protein coding host genes|7BS C5-cytosine DNA/RNA methyltransferases" "1147|1691|2060" 1998-07-15 2016-06-21 2021-05-26 1788 ENSG00000119772 OTTHUMG00000094777 uc002rgd.5 NM_022552 "CCDS33157|CCDS1718|CCDS46232" Q9Y6K1 "9662389|10433969" MGI:1261827 RGD:1303336 LRG_459|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_459.xml DNMT3A 602769 406016 objectId:2750 HGNC:2978 "ENST00000321117.10|NM_022552.5" HGNC:2978 +HGNC:23164 DNMT3AP1 DNA methyltransferase 3A pseudogene 1 pseudogene pseudogene Approved 2p14 02p14 2004-08-20 2020-01-21 130802 ENSG00000224071 BN000391 NG_004680 15203217 HGNC:23164 +HGNC:2979 DNMT3B DNA methyltransferase 3 beta protein-coding gene gene with protein product Approved 20q11.21 20q11.21 DNA (cytosine-5-)-methyltransferase 3 beta "PWWP domain containing|7BS C5-cytosine DNA/RNA methyltransferases" "1147|2060" 1998-07-15 2016-06-21 2021-05-26 1789 ENSG00000088305 OTTHUMG00000032226 uc002wyc.3 NM_006892 "CCDS13206|CCDS13207|CCDS13204|CCDS56184|CCDS56183|CCDS13205" Q9UBC3 "9662389|10433969" MGI:1261819 RGD:1303274 "DNMT3Bbase: Mutation registry for ICF syndrome|http://structure.bmc.lu.se/idbase/DNMT3Bbase/|LRG_56|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_56.xml" 602900 121150 HGNC:2979 "ENST00000328111.6|NM_006892.4" HGNC:2979 +HGNC:2980 DNMT3L DNA methyltransferase 3 like protein-coding gene gene with protein product Approved 21q22.3 21q22.3 MGC1090 cytosine-5-methyltransferase 3-like protein DNA (cytosine-5-)-methyltransferase 3-like 7BS C5-cytosine DNA/RNA methyltransferases 2060 2000-05-23 2016-06-21 2016-06-21 29947 ENSG00000142182 OTTHUMG00000086914 uc002zeh.2 AF194032 NM_013369 "CCDS46650|CCDS13705" Q9UJW3 10857753 MGI:1859287 RGD:1303239 606588 HGNC:2980 "ENST00000628202.3|NM_175867.3" +HGNC:40189 DNMT3L-AS1 DNMT3L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Antisense RNAs 1987 2019-07-25 2019-07-25 105372833 ENSG00000232010 OTTHUMG00000086917 NR_135514 HGNC:40189 +HGNC:2981 DNPEP aspartyl aminopeptidase protein-coding gene gene with protein product Approved 2q35 02q35 "DAP|ASPEP" Aminopeptidases 104 1998-09-22 2016-10-05 23549 ENSG00000123992 OTTHUMG00000058919 uc002vle.3 NM_012100 "CCDS42823|CCDS86923|CCDS82574" Q9ULA0 9632644 MGI:1278328 RGD:1583848 611367 M18.002 objectId:1559 HGNC:2981 "ENST00000273075.9|NM_012100.4" +HGNC:55789 DNPEP-AS1 DNPEP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2021-07-28 2021-07-28 105373884 ENSG00000229525 XR_923918 +HGNC:21218 DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "rcl|dJ330M21.3" C6orf108 chromosome 6 open reading frame 108 2003-11-25 2012-11-28 2012-11-28 2014-11-18 10591 ENSG00000112667 OTTHUMG00000014724 uc003ouo.4 AF040105 NM_006443 "CCDS43465|CCDS4891" O43598 "9271375|17234634" MGI:3039376 RGD:620382 618762 HGNC:21218 "ENST00000230431.11|NM_006443.3" +HGNC:2983 DNTT DNA nucleotidylexotransferase protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "TDT|TdT" Terminal deoxynucleotidyltransferase deoxynucleotidyltransferase, terminal DNA polymerases 535 2001-06-22 2013-05-21 2021-11-25 1791 ENSG00000107447 OTTHUMG00000018832 uc001kmf.4 AB046378 NM_004088 "CCDS44465|CCDS7447" P04053 MGI:98659 RGD:1305054 187410 471210 2.7.7.31 HGNC:2983 "ENST00000371174.5|NM_004088.4" +HGNC:16160 DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ447F3.4|Tdif1" "novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)|TdT binding protein" C20orf167 "chromosome 20 open reading frame 167|deoxynucleotidyltransferase, terminal, interacting protein 1" MiDAC complex subunits 2103 2001-07-17 2003-09-12 2016-07-20 2016-07-20 116092 ENSG00000101457 OTTHUMG00000032610 uc002xpk.3 AB035676 NM_052951 CCDS13369 Q9H147 11473582 MGI:1923483 RGD:621627 611388 HGNC:16160 "ENST00000372622.8|NM_052951.3" +HGNC:24013 DNTTIP2 deoxynucleotidyltransferase terminal interacting protein 2 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "HSU15552|ERBP|TdIF2" acidic 82 kDa protein mRNA deoxynucleotidyltransferase, terminal, interacting protein 2 2005-11-28 2016-04-05 2016-04-05 30836 ENSG00000067334 OTTHUMG00000010268 uc001dqf.4 AY394925 NM_014597 CCDS44174 Q5QJE6 15047147 MGI:1923173 RGD:6497192 611199 HGNC:24013 "ENST00000436063.7|NM_014597.5" +HGNC:2985 DOC2A double C2 domain alpha protein-coding gene gene with protein product Approved 16p11.2 16p11.2 double C2-like domains, alpha Synaptotagmin like tandem C2 proteins 822 1998-10-30 2016-03-17 2016-03-17 8448 ENSG00000149927 OTTHUMG00000132109 uc002dvp.5 D31897 NM_003586 CCDS10666 Q14183 "7826360|9736751" MGI:109446 RGD:620518 604567 HGNC:2985 "ENST00000350119.9|NM_003586.3" +HGNC:2986 DOC2B double C2 domain beta protein-coding gene gene with protein product Approved 17p13.3 17p13.3 DOC2BL "double C2-like domains, beta-like|double C2-like domains, beta" Synaptotagmin like tandem C2 proteins 822 1998-10-30 2016-03-17 2016-03-17 8447 ENSG00000272636 OTTHUMG00000154415 uc010vpx.3 D70830 NM_003585 CCDS73934 Q14184 7826360 MGI:1100497 RGD:620519 604568 HGNC:2986 "ENST00000613549.3|NM_003585.5" +HGNC:37962 DOC2GP double C2 domain gamma, pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 double C2-like domains, gamma, pseudogene Synaptotagmin like tandem C2 proteins 822 2010-03-12 2018-10-10 2020-08-14 390213 ENSG00000231793 OTTHUMG00000154229 XM_002343097.1 20210993 MGI:1926250 HGNC:37962 +HGNC:2987 DOCK1 dedicator of cytokinesis 1 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "DOCK180|ced5" DOwnstream of CrK dedicator of cyto-kinesis 1 "Armadillo like helical domain containing|DOCK family Rho GEFs" "1492|1536" 1998-05-13 2016-10-05 1793 ENSG00000150760 OTTHUMG00000019249 uc001ljt.4 D50857 NM_001380 "CCDS73222|CCDS76359" Q14185 "8657152|8661160" MGI:2429765 RGD:1566072 601403 HGNC:2987 "ENST00000623213.2|NM_001290223.2" +HGNC:2988 DOCK2 dedicator of cytokinesis 2 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 KIAA0209 dedicator of cyto-kinesis 2 "Armadillo like helical domain containing|DOCK family Rho GEFs|MicroRNA protein coding host genes" "1492|1536|1691" 1998-05-13 2021-05-26 1794 ENSG00000134516 OTTHUMG00000130437 uc003maf.3 BC016996 NM_004946 CCDS4371 Q92608 MGI:2149010 RGD:1564189 LRG_1227|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1227.xml 603122 457458 HGNC:2988 "ENST00000520908.7|NM_004946.3" HGNC:2988 +HGNC:2989 DOCK3 dedicator of cytokinesis 3 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "KIAA0299|MOCA|PBP" dedicator of cyto-kinesis 3 "Armadillo like helical domain containing|DOCK family Rho GEFs|MicroRNA protein coding host genes" "1492|1536|1691" 1998-05-13 2021-05-26 1795 ENSG00000088538 OTTHUMG00000156892 uc011bds.2 AB002297 NM_004947 CCDS46835 Q8IZD9 9205841 MGI:2429763 RGD:1306677 603123 HGNC:2989 "ENST00000266037.10|NM_004947.5" HGNC:2989 +HGNC:19192 DOCK4 dedicator of cytokinesis 4 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "FLJ34238|KIAA0716" DOCK family Rho GEFs 1536 2003-11-19 2015-08-25 9732 ENSG00000128512 OTTHUMG00000155077 uc003vfx.4 NM_014705 "CCDS87541|CCDS47688" Q8N1I0 "12432077|12628187" MGI:1918006 RGD:1561724 607679 HGNC:19192 "ENST00000428084.6|NM_001363540.2" +HGNC:40876 DOCK4-AS1 DOCK4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.1 07q31.1 Antisense RNAs 1987 2013-07-23 2014-11-19 100506413 ENSG00000225572 OTTHUMG00000155078 NR_103806 DOCK4-AS1 HGNC:40876 +HGNC:23476 DOCK5 dedicator of cytokinesis 5 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 FLJ21034 "DOCK family Rho GEFs|MicroRNA protein coding host genes" "1536|1691" 2003-11-19 2015-09-11 80005 ENSG00000147459 OTTHUMG00000131991 uc003xeg.4 NM_024940 "CCDS83265|CCDS6047" Q9H7D0 12432077 MGI:2652871 RGD:1306872 616904 HGNC:23476 "ENST00000276440.12|NM_024940.8" +HGNC:19189 DOCK6 dedicator of cytokinesis 6 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "KIAA1395|ZIR1" DOCK family Rho GEFs 1536 2003-11-19 2021-05-26 57572 ENSG00000130158 OTTHUMG00000180826 uc002mqs.6 NM_020812 CCDS45975 Q96HP0 12432077 MGI:1914789 RGD:1306517 614194 279606 HGNC:19189 "ENST00000294618.12|NM_020812.4" HGNC:19189 +HGNC:19190 DOCK7 dedicator of cytokinesis 7 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA1771|ZIR2" DOCK family Rho GEFs 1536 2003-11-19 2021-05-26 85440 ENSG00000116641 OTTHUMG00000013131 uc001dap.6 NM_033407 "CCDS81338|CCDS60157|CCDS30734|CCDS81336|CCDS81335|CCDS60156" Q96N67 12432077 MGI:1914549 RGD:1309790 615730 415155 HGNC:19190 "ENST00000635253.2|NM_001367561.1" HGNC:19190 +HGNC:55670 DOCK7-DT DOCK7 divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Divergent transcripts 1990 2021-06-30 2021-06-30 121832810 ENSG00000235545 +HGNC:19191 DOCK8 dedicator of cytokinesis 8 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "FLJ00026|FLJ00152|ZIR8|FLJ00346" "Armadillo like helical domain containing|DOCK family Rho GEFs" "1492|1536" 2003-12-02 2021-05-26 81704 ENSG00000107099 OTTHUMG00000078789 uc003zgf.2 AK090429 NM_203447 "CCDS55284|CCDS55283|CCDS6440" Q8NF50 11214971 MGI:1921396 RGD:1561588 LRG_196|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_196.xml 611432 220922 HGNC:19191 "ENST00000432829.7|NM_203447.4" HGNC:19191 +HGNC:26436 DOCK8-AS1 DOCK8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 FLJ31158 C9orf66 chromosome 9 open reading frame 66 Antisense RNAs 1987 2004-01-06 2019-04-04 2019-04-04 2019-04-04 157983 ENSG00000183784 OTTHUMG00000021017 uc003zge.5 AK055720 NR_160804 Q5T8R8 RGD:9462182 HGNC:26436 +HGNC:55822 DOCK8-AS2 DOCK8 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 Antisense RNAs 1987 2021-07-30 2021-07-30 112268042 ENSG00000227155 XR_002956871 +HGNC:14132 DOCK9 dedicator of cytokinesis 9 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 "KIAA1058|ZIZ1" zizimin1 "Pleckstrin homology domain containing|Armadillo like helical domain containing|DOCK family Rho GEFs" "682|1492|1536" 2003-11-19 2015-08-27 23348 ENSG00000088387 OTTHUMG00000017260 uc058xyj.1 AF527605 NM_015296 "CCDS45063|CCDS45062|CCDS76645" Q9BZ29 "12172552|12432077" MGI:106321 RGD:629617 607325 HGNC:14132 "ENST00000682017.1|NM_001366683.2" HGNC:14132 +HGNC:40672 DOCK9-AS1 DOCK9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 DOCK9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2014-11-19 100874096 ENSG00000229918 OTTHUMG00000017256 uc032amx.1 AI027206 NR_046663 DOCK9-AS1 HGNC:40672 +HGNC:43696 DOCK9-DT DOCK9 divergent transcript non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 DOCK9-AS2 "DOCK9 antisense RNA 2 (non-protein coding)|DOCK9 antisense RNA 2|DOCK9 antisense RNA 2 (head to head)" Divergent transcripts 1990 2012-01-31 2018-03-22 2018-03-22 2018-03-22 100861541 ENSG00000260992 OTTHUMG00000176064 uc058xyw.1 AF339771 NR_047482 DOCK9-AS2 HGNC:43696 +HGNC:23479 DOCK10 dedicator of cytokinesis 10 protein-coding gene gene with protein product Approved 2q36.2 02q36.2 "ZIZ3|KIAA0694" zizimin3 "Pleckstrin homology domain containing|Armadillo like helical domain containing|DOCK family Rho GEFs|MicroRNA protein coding host genes" "682|1492|1536|1691" 2003-11-19 2016-10-05 55619 ENSG00000135905 OTTHUMG00000153428 uc010fwz.2 AB014594 NM_001290263 "CCDS46528|CCDS74661|CCDS86925" Q96BY6 12432077 MGI:2146320 RGD:1561963 611518 HGNC:23479 "ENST00000258390.12|NM_014689.3" +HGNC:23483 DOCK11 dedicator of cytokinesis 11 protein-coding gene gene with protein product Approved Xq24 Xq24 "FLJ32122|FLJ43653|ZIZ2|ACG" zizimin2 "Pleckstrin homology domain containing|Armadillo like helical domain containing|DOCK family Rho GEFs" "682|1492|1536" 2003-11-19 2015-09-11 139818 ENSG00000147251 OTTHUMG00000022256 uc065avl.1 AK125641 NM_144658 CCDS35373 Q5JSL3 "12432077|16968698" MGI:1923224 RGD:1564707 300681 HGNC:23483 "ENST00000276202.9|NM_144658.4" +HGNC:31719 DOCK11P1 dedicator of cytokinesis 11 pseudogene 1 pseudogene pseudogene Approved 14q21.2 14q21.2 2004-06-17 2020-04-20 100132537 ENSG00000259000 OTTHUMG00000170718 NG_028868 PGOHUM00000247788 HGNC:31719 +HGNC:28662 DOHH deoxyhypusine hydroxylase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC4293 HLRC1 "HEAT-like (PBS lyase) repeat containing 1|deoxyhypusine hydroxylase/monooxygenase" Armadillo like helical domain containing 1492 2005-07-04 2006-05-22 2017-01-20 2020-01-06 83475 ENSG00000129932 OTTHUMG00000180762 uc010xhl.3 BC002817 NM_031304 CCDS12108 Q9BU89 "16371467|16533814" MGI:1915964 RGD:1304783 611262 HGNC:28662 "ENST00000427575.6|NM_001145165.2" +HGNC:2990 DOK1 docking protein 1 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 p62dok downstream of tyrosine kinase 1 "docking protein 1, 62kD (downstream of tyrosine kinase 1)|docking protein 1, 62kDa (downstream of tyrosine kinase 1)" 1997-07-25 2015-11-10 2016-10-05 1796 ENSG00000115325 OTTHUMG00000129956 uc002sms.4 U70987 NM_001381 "CCDS56125|CCDS1954|CCDS82474" Q99704 "9008160|9790776|15546884" MGI:893587 RGD:1309499 602919 HGNC:2990 "ENST00000233668.10|NM_001381.5" +HGNC:2991 DOK2 docking protein 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "p56dok-2|Dok-2" downstream of tyrosine kinase 2 "docking protein 2, 56kD|docking protein 2, 56kDa" 1999-02-05 2015-11-09 2015-11-10 9046 ENSG00000147443 OTTHUMG00000131075 uc003wzy.2 AF034970 NM_003974 CCDS6016 O60496 "9478921|14645010" MGI:1332623 RGD:1310966 604997 HGNC:2991 "ENST00000276420.9|NM_003974.4" +HGNC:24583 DOK3 docking protein 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 FLJ22570 2004-07-06 2016-10-05 79930 ENSG00000146094 OTTHUMG00000130850 uc003mhk.3 AK026223 NM_024872 "CCDS47349|CCDS47350|CCDS78098" Q7L591 "10733577|12595900" MGI:1351490 RGD:1311840 611435 HGNC:24583 "ENST00000510898.7|NM_001308236.3" +HGNC:19868 DOK4 docking protein 4 protein-coding gene gene with protein product Approved 16q21 16q21 FLJ10488 Pleckstrin homology domain containing 682 2002-11-28 2016-10-05 55715 ENSG00000125170 OTTHUMG00000133460 uc002elv.5 BC003541 NM_001330556 "CCDS10783|CCDS81986" Q8TEW6 10493829 MGI:2148865 RGD:1310084 608333 HGNC:19868 +HGNC:16173 DOK5 docking protein 5 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 dJ805C22.1 C20orf180 chromosome 20 open reading frame 180 Pleckstrin homology domain containing 682 2001-07-17 2002-11-29 2002-11-28 2015-08-27 55816 ENSG00000101134 OTTHUMG00000032778 uc002xwy.4 AF132732 NM_001294161 "CCDS13447|CCDS13446" Q9P104 11470823 MGI:1924079 RGD:1562846 608334 HGNC:16173 "ENST00000262593.10|NM_018431.5" +HGNC:28301 DOK6 docking protein 6 protein-coding gene gene with protein product Approved 18q22.2 18q22.2 "MGC20785|HsT3226" DOK5L docking protein 5-like Pleckstrin homology domain containing 682 2004-05-05 2005-01-18 2005-01-18 2015-08-27 220164 ENSG00000206052 OTTHUMG00000178688 uc002lkl.4 AK057795 NM_152721 CCDS32841 Q6PKX4 15286081 MGI:3639495 RGD:1564376 611402 HGNC:28301 "ENST00000382713.10|NM_152721.6" +HGNC:26594 DOK7 docking protein 7 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ33718|FLJ39137|Dok-7" C4orf25 chromosome 4 open reading frame 25 2006-05-22 2006-08-24 2006-08-24 2021-05-26 285489 ENSG00000175920 OTTHUMG00000122087 uc003ghd.4 AK091037 NM_173660 "CCDS3370|CCDS87206|CCDS87205|CCDS54717" Q18PE1 16794080 MGI:3584043 RGD:1566416 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DOK7|LRG_869|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_869.xml" 610285 121152 HGNC:26594 "ENST00000340083.6|NM_173660.5" HGNC:26594 +HGNC:23406 DOLK dolichol kinase protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KIAA1094|DK1" dolichol kinase 1 TMEM15 transmembrane protein 15 2003-11-17 2007-02-09 2007-02-09 2021-05-26 22845 ENSG00000175283 OTTHUMG00000020765 uc004bwr.4 AB029017 NM_014908 CCDS6915 Q9UPQ8 "12975309|16923818" MGI:2677836 RGD:1310821 LRG_744|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_744.xml 610746 123375 HGNC:23406 "ENST00000372586.4|NM_014908.4" HGNC:23406 +HGNC:29565 DOLPP1 dolichyldiphosphatase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 LSFR2 linked to Surfeit genes in Fugu rubripes 2 dolichyl pyrophosphate phosphatase 1 Lipid phosphatases 1066 2004-02-13 2013-05-21 2016-10-05 57171 ENSG00000167130 OTTHUMG00000020771 uc004bxc.4 BC009493 NM_020438 "CCDS6918|CCDS48039" Q86YN1 "10369878|12198133" MGI:1914093 RGD:1307447 614516 3.6.1.43 HGNC:29565 "ENST00000372546.9|NM_020438.5" +HGNC:2993 DONSON DNA replication fork stabilization factor DONSON protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B17|C2TA|DKFZP434M035" C21orf60 downstream neighbor of SON 2000-02-18 2020-01-30 2021-05-26 29980 ENSG00000159147 OTTHUMG00000065904 uc002ysk.5 AF000002 NM_017613 CCDS13632 Q9NYP3 "10773462|10950926|28191891" MGI:1890621 RGD:1306823 611428 HGNC:2993 "ENST00000303071.10|NM_017613.4" HGNC:2993 +HGNC:21194 DOP1A DOP1 leucine zipper like protein A protein-coding gene gene with protein product Approved 6q14.1 06q14.1 dJ202D23.2 "KIAA1117|DOPEY1" "KIAA1117|dopey family member 1" 2003-11-17 2018-06-13 2018-06-13 2018-06-13 23033 ENSG00000083097 OTTHUMG00000016365 uc003pjs.2 AK027030 NM_015018 "CCDS4996|CCDS64467" Q5JWR5 "16301316|16303751|10931277" MGI:1289294 RGD:1305534 616823 HGNC:21194 "ENST00000349129.7|NM_015018.4" +HGNC:1291 DOP1B DOP1 leucine zipper like protein B protein-coding gene gene with protein product Approved 21q22.12 21q22.12 KIAA0933 "C21orf5|DOPEY2" "chromosome 21 open reading frame 5|dopey family member 2" 1999-04-28 2018-06-13 2018-06-13 2020-09-17 9980 ENSG00000142197 OTTHUMG00000086619 uc002yvg.4 AJ237839 NM_005128 CCDS13643 Q9Y3R5 "16301316|16303751|10931277" MGI:1917278 RGD:1306097 604803 HGNC:1291 "ENST00000691173.1|NM_001320714.2" +HGNC:24948 DOT1L DOT1 like histone lysine methyltransferase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA1814|DOT1|KMT4" histone methyltransferase DOT1L DOT1-like, histone H3 methyltransferase (S. cerevisiae) "Lysine methyltransferases|7BS protein lysine methyltransferases" "487|2056" 2004-03-08 2016-05-04 2016-05-04 84444 ENSG00000104885 OTTHUMG00000150431 uc002lvb.4 AF509504 NM_032482 CCDS42460 Q8TEK3 "11347906|12123582" MGI:2143886 RGD:1306644 607375 470238 objectId:2650 2.1.1.43 HGNC:24948 "ENST00000398665.8|NM_032482.3" +HGNC:2995 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "GPT|D11S366|DGPT|ALG7|CDG-Ij" "GlcNAc-1-P transferase 1|UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1" "DPAGT2|DPAGT" dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 1993-12-13 2016-01-19 2021-05-26 1798 ENSG00000172269 OTTHUMG00000153533 uc031yhj.1 Z82022 NM_001382 CCDS8411 Q9H3H5 8244387 MGI:1196396 RGD:735124 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 191350 121158 2.7.8.15 HGNC:2995 "ENST00000354202.9|NM_001382.4" HGNC:2995 +HGNC:24542 DPCD deleted in primary ciliary dyskinesia homolog (mouse) protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "DKFZP566F084|RP11-529I10.4" MicroRNA protein coding host genes 1691 2009-08-25 2020-05-15 25911 ENSG00000166171 OTTHUMG00000018934 uc001ktn.4 NM_001329742 "CCDS7514|CCDS86141" Q9BVM2 14630615 MGI:1924407 RGD:1307648 616467 HGNC:24542 "ENST00000370151.9|NM_015448.3" +HGNC:3002 DPEP1 dipeptidase 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 dipeptidase 1 (renal) M19 metallopeptidases 1445 1991-08-08 2017-08-04 2017-08-04 1800 ENSG00000015413 OTTHUMG00000138052 uc010cin.4 NM_001128141 CCDS10982 P16444 MGI:94917 RGD:620324 179780 M19.001 objectId:1393 3.4.13.19 HGNC:3002 "ENST00000690203.1|NM_001389466.1" +HGNC:23028 DPEP2 dipeptidase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 M19 metallopeptidases 1445 2003-09-12 2015-09-11 64174 ENSG00000167261 OTTHUMG00000137542 uc002eve.5 AJ295149 NM_022355 CCDS10857 Q9H4A9 MGI:2442042 RGD:1305746 609925 M19.004 objectId:1394 3.4.13.19 HGNC:23028 "ENST00000393847.6|NM_022355.4" +HGNC:52385 DPEP2NB DPEP2 neighbor protein-coding gene gene with protein product Approved 16q22.1 16q22.1 2017-11-27 2017-11-27 100131303 ENSG00000263201 OTTHUMG00000177460 NM_001282442 CCDS82001 A0A0U1RQF7 HGNC:52385 "ENST00000574912.1|NM_001282442.2" +HGNC:23029 DPEP3 dipeptidase 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 M19 metallopeptidases 1445 2003-09-12 2015-09-11 64180 ENSG00000141096 OTTHUMG00000137544 uc002evc.5 AJ291679 NM_022357 CCDS10856 Q9H4B8 MGI:1919104 RGD:1305484 609926 M19.011 3.4.13.19 HGNC:23029 "ENST00000268793.6|NM_001370198.1" +HGNC:20225 DPF1 double PHD fingers 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "neuro-d4|NEUD4|BAF45b|SMARCG1" D4, zinc and double PHD fingers family 1 "PHD finger proteins|BAF complex" "88|1604" 2003-01-28 2016-02-10 2021-07-23 8193 ENSG00000011332 OTTHUMG00000157164 uc060xyx.1 U43843 NM_001135155 "CCDS86760|CCDS46065" Q92782 8812431 MGI:1352748 RGD:61868 601670 HGNC:20225 "ENST00000355526.10|NM_001135155.3" +HGNC:9964 DPF2 double PHD fingers 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ubi-d4|BAF45d|SMARCG2" REQ "requiem, apoptosis response zinc finger gene|D4, zinc and double PHD fingers family 2" "PHD finger proteins|BAF complex" "88|1604" 1997-05-15 2003-10-08 2016-02-10 2021-07-23 5977 ENSG00000133884 OTTHUMG00000165985 uc001odm.4 U94585 NM_006268 "CCDS8100|CCDS81583" Q92785 11845289 MGI:109529 RGD:1311699 601671 HGNC:9964 "ENST00000528416.6|NM_006268.5" HGNC:9964 +HGNC:17427 DPF3 double PHD fingers 3 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "cer-d4|Cerd4|FLJ14079|BAF45c|SMARCG3" D4, zinc and double PHD fingers, family 3 "PHD finger proteins|BAF complex" "88|1604" 2003-01-28 2016-02-10 2021-07-23 8110 ENSG00000205683 OTTHUMG00000171364 uc001xnc.4 U43919 NM_001280542 "CCDS45133|CCDS61495|CCDS61496|CCDS61497" Q92784 "11845289|8812431" MGI:1917377 RGD:1309052 601672 HGNC:17427 "ENST00000556509.6|NM_001280542.3" +HGNC:3003 DPH1 diphthamide biosynthesis 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OVCA1 ovarian tumor suppressor candidate 1 "DPH2L|DPH2L1" "diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)|DPH-like 1 (S. cerevisiae)|DPH1 homolog (S. cerevisiae)" "Minor histocompatibility antigens|Diphthamide biosynthesis pathway genes" "870|1808" 1995-08-25 2005-06-03 2013-05-02 2021-05-26 1801 ENSG00000108963 OTTHUMG00000177724 uc002fts.4 S81752 NM_001383 CCDS42228 Q9BZG8 "8603384|15485916|22869748" MGI:2151233 RGD:1562694 603527 460847 HGNC:3003 "ENST00000263083.12|NM_001383.6" HGNC:3003 +HGNC:56040 DPH1-AS1 DPH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 RP11-667K14.3 Antisense RNAs 1987 2021-12-08 2021-12-08 123706529 ENSG00000263050 +HGNC:3004 DPH2 diphthamide biosynthesis 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 DPH2L2 "diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)|DPH2-like 2 (S. cerevisiae)|DPH2 homolog (S. cerevisiae)|DPH2 homolog" Diphthamide biosynthesis pathway genes 1808 1998-03-24 2005-06-03 2019-02-14 2021-10-06 1802 ENSG00000132768 OTTHUMG00000008295 uc001ckz.4 AF053003 NM_001384 "CCDS41314|CCDS504" Q9BQC3 "9782084|15485916" MGI:1914978 RGD:1304634 603456 HGNC:3004 "ENST00000255108.8|NM_001384.5" +HGNC:27717 DPH3 diphthamide biosynthesis 3 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "DESR1|DELGIP1|MGC20197|KTI11|DELGIP|DPH3A" DPH3A, KTI11 homolog A (S. cerevisiae) ZCSL2 "zinc finger, CSL-type containing 2|DPH3 homolog (KTI11, S. cerevisiae)|DPH3, KTI11 homolog (S. cerevisiae)" Diphthamide biosynthesis pathway genes 1808 2004-07-14 2006-10-25 2013-06-19 2015-09-11 285381 ENSG00000154813 OTTHUMG00000129866 uc003cau.4 BC010181 NM_206831 "CCDS43058|CCDS2629" Q96FX2 "14527407|14980502|15485916|16648478" MGI:1922658 RGD:1590566 608959 HGNC:27717 "ENST00000488423.2|NM_206831.3" +HGNC:16136 DPH3P1 diphthamide biosynthesis 3 pseudogene 1 pseudogene pseudogene Approved 20q13.33 20q13.33 dJ885L7.5 "C20orf143|ZCSL1|DPH3B" "chromosome 20 open reading frame 143|zinc finger, CSL-type containing 1|DPH3B, KTI11 homolog B (S. cerevisiae)|DPH3, KTI11 homolog (S. cerevisiae) pseudogene 1" 2001-07-17 2010-07-28 2013-06-19 2021-03-05 100132911 ENSG00000233838 OTTHUMG00000032941 NG_070886 Q9H4G8 MGI:1922658 HGNC:16136 +HGNC:38719 DPH3P2 diphthamide biosynthesis 3 pseudogene 2 pseudogene pseudogene Approved Xq28 and Yq12 Xq28 and Yq12 DPH3, KTI11 homolog (S. cerevisiae) pseudogene 2 Pseudoautosomal region 2 716 2010-07-28 2013-06-19 2016-10-05 106478926 ENSG00000237040 OTTHUMG00000022680 NG_044993 PGOHUM00000305409 HGNC:38719 +HGNC:24270 DPH5 diphthamide biosynthesis 5 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 CGI-30 DPH5 homolog (S. cerevisiae) Diphthamide biosynthesis pathway genes 1808 2005-07-29 2013-05-02 2014-11-18 51611 ENSG00000117543 OTTHUMG00000010829 uc001dts.4 AF132964 NM_015958 "CCDS41358|CCDS41359" Q9H2P9 "15485916|23486472" MGI:1916990 RGD:1307867 611075 HGNC:24270 "ENST00000370109.8|NM_015958.3" +HGNC:53720 DPH5-DT DPH5 divergent transcript non-coding RNA RNA, long non-coding Approved 1p21.2 01p21.2 Divergent transcripts 1990 2022-01-05 2022-01-05 102606465 ENSG00000233184 OTTHUMG00000010831 NR_109849 28854954 +HGNC:30543 DPH6 diphthamine biosynthesis 6 protein-coding gene gene with protein product Approved 15q14 15q14 MGC14798 diphthine--ammonia ligase ATPBD4 "ATP binding domain 4|DPH6 homolog (S. cerevisiae)" "MicroRNA protein coding host genes|Diphthamide biosynthesis pathway genes" "1691|1808" 2005-10-24 2013-05-02 2013-06-19 2014-11-19 89978 ENSG00000134146 OTTHUMG00000129759 NM_080650 "CCDS10043|CCDS45213" Q7L8W6 "23169644|23468660" MGI:1913882 RGD:1310006 618391 6.3.1.14 HGNC:30543 "ENST00000256538.9|NM_080650.4" +HGNC:44147 DPH6-DT DPH6 divergent transcript non-coding RNA RNA, long non-coding Approved 15q14 15q14 "ATPBD4-AS1|DPH6-AS1" "ATPBD4 antisense RNA 1 (non-protein coding)|ATPBD4 antisense RNA 1|ATPBD4 antisense RNA 1 (head to head)|DPH6 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-06-30 2018-03-22 2018-03-22 2018-03-22 100507466 ENSG00000248079 OTTHUMG00000172347 BC025664 NR_038251 DPH6-AS1 HGNC:44147 +HGNC:25199 DPH7 diphthamide biosynthesis 7 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "FLJ90634|RRT2" "C9orf112|WDR85" "chromosome 9 open reading frame 112|WD repeat domain 85" "WD repeat domain containing|Diphthamide biosynthesis pathway genes" "362|1808" 2004-03-25 2013-06-20 2013-06-20 2015-08-25 92715 ENSG00000148399 OTTHUMG00000020991 AK075115 NM_138778 CCDS7047 Q9BTV6 23486472 MGI:1914478 RGD:1304868 613210 HGNC:25199 "ENST00000277540.7|NM_138778.5" +HGNC:3005 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "MPDS|CDGIE" DPM synthase complex, catalytic subunit dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit "Glycosyltransferase family 2|Dolichyl-phosphate mannosyltransferase subunits" "428|1893" 1999-02-23 2016-07-20 2021-05-26 8813 ENSG00000000419 OTTHUMG00000032742 uc002xvw.2 AF007875 NM_003859 "CCDS82628|CCDS13434" O60762 "9223280|9535917" MGI:1330239 RGD:1310120 Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/ 603503 121167 2.4.1.83 HGNC:3005 "ENST00000371588.10|NM_003859.3" HGNC:3005 +HGNC:3006 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "MGC21559|MGC111193" DPM synthase complex subunit dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit Dolichyl-phosphate mannosyltransferase subunits 1893 1999-02-23 2016-07-20 2021-05-26 8818 ENSG00000136908 OTTHUMG00000020725 uc004bsv.3 AB013361 NM_003863 CCDS6886 O94777 9724629 MGI:1330238 RGD:2514 603564 331676 HGNC:3006 "ENST00000314392.13|NM_003863.4" HGNC:3006 +HGNC:3007 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory protein-coding gene gene with protein product Approved 1q22 01q22 "MGC34275|MGC125904|MGC125905" DPM synthase complex subunit dolichyl-phosphate mannosyltransferase polypeptide 3 Dolichyl-phosphate mannosyltransferase subunits 1893 2000-06-29 2019-05-08 2021-05-26 54344 ENSG00000179085 OTTHUMG00000035335 uc057lmb.1 AB028128 NM_153741 "CCDS1094|CCDS1095" Q9P2X0 "10835346|16280320" MGI:1915813 RGD:1561807 Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DPM3 605951 269756 HGNC:3007 "ENST00000368400.5|NM_153741.2" HGNC:3007 +HGNC:3008 DPP3 dipeptidyl peptidase 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 enkephalinase B "dipeptidylpeptidase III|dipeptidylpeptidase 3|dipeptidyl-peptidase 3" M49 metallopeptidase family 2106 1999-05-25 2016-02-05 2021-10-04 10072 ENSG00000254986 OTTHUMG00000167143 uc058dxl.1 AB017970 NM_001256670 "CCDS8141|CCDS58147" Q9NY33 "10773679|34314529" MGI:1922471 RGD:621127 606818 M49.001 objectId:2355 3.4.14.4 HGNC:3008 "ENST00000531863.6|NM_130443.4" +HGNC:55494 DPP3-DT DPP3 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Divergent transcripts 1990 2021-03-15 2021-03-15 101928069 ENSG00000255517 NR_120586 +HGNC:51349 DPP3P1 DPP3 pseudogene 1 pseudogene pseudogene Approved 4q13.1 04q13.1 dipeptidyl-peptidase 3 pseudogene 1 2014-10-13 2020-02-10 2020-02-10 391657 ENSG00000250768 OTTHUMG00000160714 NG_022059 PGOHUM00000300226 HGNC:51349 +HGNC:51350 DPP3P2 DPP3 pseudogene 2 pseudogene pseudogene Approved 9q21.13 09q21.13 dipeptidyl-peptidase 3 pseudogene 2 2014-10-13 2020-02-10 2020-02-10 138971 ENSG00000221844 OTTHUMG00000020020 NG_021624 HGNC:51350 +HGNC:3009 DPP4 dipeptidyl peptidase 4 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 DPPIV "CD26|ADCP2" "dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)|adenosine deaminase complexing protein 2|dipeptidyl-peptidase 4" "CD molecules|DASH family" "471|1205" 1990-03-05 2016-02-05 2016-02-05 1803 ENSG00000197635 OTTHUMG00000132056 uc002ubz.4 M74777 NM_001379604 CCDS2216 P27487 8101391 MGI:94919 RGD:2515 102720 S09.003 objectId:1612 CD26 3.4.14.5 HGNC:3009 "ENST00000360534.8|NM_001935.4" +HGNC:40191 DPP4-DT DPP4 divergent transcript non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Divergent transcripts 1990 2019-07-25 2019-07-25 100131604 ENSG00000230918 OTTHUMG00000153863 NR_147697 HGNC:40191 +HGNC:3010 DPP6 dipeptidyl peptidase like 6 protein-coding gene gene with protein product Approved 7q36.2 07q36.2 "DPPX|DPL1" "dipeptidylpeptidase VI|dipeptidylpeptidase 6|dipeptidyl-peptidase 6|dipeptidyl peptidase 6" "Potassium voltage-gated channel regulatory subunits|DASH family" "858|1205" 1993-02-11 2016-02-08 2016-02-08 1804 ENSG00000130226 OTTHUMG00000151511 uc003wlk.4 M96859 NM_130797 "CCDS78290|CCDS75682|CCDS75683|CCDS75684|CCDS78291" P42658 "1729689|23593319" MGI:94921 RGD:68402 126141 232182 S09.973 HGNC:3010 "ENST00000377770.8|NM_130797.4" HGNC:3010 +HGNC:14892 DPP7 dipeptidyl peptidase 7 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "DPPII|DPP2" dipeptidylpeptidase 7 DASH family 1205 2001-04-20 2016-02-08 2016-02-08 29952 ENSG00000176978 OTTHUMG00000020977 uc004clh.4 AF154502 NM_013379 CCDS7030 Q9UHL4 "10477574|11139392" MGI:1933213 RGD:71073 610537 objectId:1605 HGNC:14892 "ENST00000371579.7|NM_013379.3" +HGNC:16490 DPP8 dipeptidyl peptidase 8 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "DP8|DPRP1|MSTP141|FLJ14920|FLJ20283|MGC26191" "dipeptidyl peptidase VIII|dipeptidyl peptidase IV-related protein-1|prolyl dipeptidase DPP8" "dipeptidylpeptidase 8|dipeptidyl-peptidase 8" DASH family 1205 2001-09-04 2016-02-05 2016-10-05 54878 ENSG00000074603 OTTHUMG00000133150 uc002aov.4 AF221634 NM_017743 "CCDS10209|CCDS10207|CCDS10208|CCDS10210" Q6V1X1 11012666 MGI:1921638 RGD:1310901 606819 S09.018 objectId:2356 3.4.14.5 HGNC:16490 "ENST00000300141.11|NM_130434.5" +HGNC:18648 DPP9 dipeptidyl peptidase 9 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 dipeptidylpeptidase 9 DASH family 1205 2002-05-21 2016-02-08 2016-02-08 91039 ENSG00000142002 OTTHUMG00000182040 uc002mba.5 AF452102 NM_001365987 CCDS45928 Q86TI2 MGI:2443967 RGD:1588575 608258 353250 S09.019 objectId:2357 3.4.14.5 HGNC:18648 "ENST00000262960.14|NM_139159.5" +HGNC:50706 DPP9-AS1 DPP9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Antisense RNAs 1987 2014-06-11 2017-01-26 100131094 ENSG00000205790 OTTHUMG00000182047 NR_164163 DPP9-AS1 HGNC:50706 +HGNC:20823 DPP10 dipeptidyl peptidase like 10 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "DPRP3|DPL2|DPPY" "dipeptidylpeptidase 10|dipeptidyl-peptidase 10|dipeptidyl-peptidase 10 (inactive)" "Potassium voltage-gated channel regulatory subunits|DASH family" "858|1205" 2003-06-19 2016-02-08 2016-02-08 57628 ENSG00000175497 OTTHUMG00000153294 uc002tla.3 AY172661 NM_020868 "CCDS54388|CCDS54389|CCDS46400|CCDS33278" Q8N608 "10819331|12662155|26209633" MGI:2442409 RGD:1306427 608209 S09.974 HGNC:20823 "ENST00000410059.6|NM_020868.6" +HGNC:40941 DPP10-AS1 DPP10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 BC032913 Antisense RNAs 1987 2013-10-14 2017-09-21 389023 ENSG00000235026 OTTHUMG00000153346 NR_036580 28918047 DPP10-AS1 HGNC:40941 +HGNC:40940 DPP10-AS2 DPP10 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 Antisense RNAs 1987 2013-10-14 2015-07-29 106478969 ENSG00000235717 OTTHUMG00000153283 DPP10-AS2 +HGNC:40939 DPP10-AS3 DPP10 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 Antisense RNAs 1987 2013-10-14 2014-11-19 101927591 ENSG00000231538 OTTHUMG00000153281 NR_132105 DPP10-AS3 HGNC:40939 +HGNC:19197 DPPA2 developmental pluripotency associated 2 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "PESCRG1|CT100" cancer/testis antigen 100 2005-01-19 2018-04-24 151871 ENSG00000163530 OTTHUMG00000159227 uc003dxo.3 AY283672 NM_138815 CCDS2956 Q7Z7J5 "15583978|23963736" MGI:2157523 614445 HGNC:19197 "ENST00000478945.1|NM_138815.4" +HGNC:38448 DPPA2P1 developmental pluripotency associated 2 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 2010-05-04 2014-11-19 100421137 ENSG00000223915 OTTHUMG00000036323 NG_021938 PGOHUM00000233959 HGNC:38448 +HGNC:44627 DPPA2P2 developmental pluripotency associated 2 pseudogene 2 pseudogene pseudogene Approved 1p36.11 01p36.11 2012-11-22 2012-11-22 100128503 ENSG00000224129 OTTHUMG00000003551 NG_012273 PGOHUM00000243942 HGNC:44627 +HGNC:44628 DPPA2P3 developmental pluripotency associated 2 pseudogene 3 pseudogene pseudogene Approved 3q29 03q29 2012-11-22 2012-11-22 100128023 ENSG00000224403 OTTHUMG00000155990 NR_027764 PGOHUM00000237905 HGNC:44628 +HGNC:44629 DPPA2P4 developmental pluripotency associated 2 pseudogene 4 pseudogene pseudogene Approved 16q13 16q13 2012-11-22 2012-11-22 100131777 ENSG00000261429 OTTHUMG00000176801 NG_012309 PGOHUM00000249145 HGNC:44629 +HGNC:19199 DPPA3 developmental pluripotency associated 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "Stella|Pgc7" 2003-07-09 2017-03-24 359787 ENSG00000187569 OTTHUMG00000168434 uc001qtf.4 AY317075 NM_199286 CCDS8582 Q6W0C5 14684992 MGI:1920958 RGD:1310932 608408 HGNC:19199 "ENST00000345088.3|NM_199286.4" +HGNC:32345 DPPA3P1 developmental pluripotency associated 3 pseudogene 1 pseudogene pseudogene Approved Xq22.2 Xq22.2 2011-02-21 2012-10-16 728493 ENSG00000227067 OTTHUMG00000022118 NG_007153 HGNC:32345 +HGNC:20417 DPPA3P2 developmental pluripotency associated 3 pseudogene 2 pseudogene pseudogene Approved 14q13.3 14q13.3 STELLAR 2012-04-27 2012-07-04 400206 ENSG00000188831 OTTHUMG00000170728 NG_023379 HGNC:20417 +HGNC:49062 DPPA3P3 developmental pluripotency associated 3 pseudogene 3 pseudogene pseudogene Approved 13q31.1 13q31.1 2013-08-20 2013-08-20 106481963 ENSG00000270415 OTTHUMG00000184734 NG_043274 PGOHUM00000248447 HGNC:49062 +HGNC:19200 DPPA4 developmental pluripotency associated 4 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 FLJ10713 2004-02-26 2020-04-20 55211 ENSG00000121570 OTTHUMG00000159222 uc003dxq.4 AK001575 NM_018189 CCDS33814 Q7L190 "23963736|26687479" MGI:2157525 RGD:1595070 614125 HGNC:19200 "ENST00000335658.7|NM_018189.4" +HGNC:44903 DPPA4P1 developmental pluripotency associated 4 pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 2012-12-17 2012-12-17 100421156 NG_054637 PGOHUM00000238051 HGNC:44903 +HGNC:19201 DPPA5 developmental pluripotency associated 5 protein-coding gene gene with protein product Approved 6q13 06q13 Esg1 2003-07-23 2020-04-20 340168 ENSG00000203909 OTTHUMG00000015025 uc003pgs.3 NM_001025290 CCDS34483 A6NC42 26661329 MGI:101800 RGD:1305838 611111 HGNC:19201 "ENST00000370370.4|NM_001025290.3" +HGNC:43752 DPPA5P1 developmental pluripotency associated 5 pseudogene 1 pseudogene pseudogene Approved 19q13.41 19q13.41 2012-02-22 2015-03-27 646382 ENSG00000269776 OTTHUMG00000182671 NG_028001 17913455 PGOHUM00000295089 HGNC:43752 +HGNC:43754 DPPA5P2 developmental pluripotency associated 5 pseudogene 2 pseudogene pseudogene Approved 15q21.1 15q21.1 2012-02-22 2012-04-13 100874380 ENSG00000259427 OTTHUMG00000172028 NG_032564 17913455 PGOHUM00000247107 HGNC:43754 +HGNC:44688 DPPA5P3 developmental pluripotency associated 5 pseudogene 3 pseudogene pseudogene Approved 10p15.1 10p15.1 2012-12-04 2014-01-31 100528006 NG_028003 PGOHUM00000238343 HGNC:44688 +HGNC:49665 DPPA5P4 developmental pluripotency associated 5 pseudogene 4 pseudogene pseudogene Approved 14q24.3 14q24.3 2014-01-31 2016-11-09 646701 ENSG00000119660 OTTHUMG00000171866 NG_027999 PGOHUM00000292410 HGNC:49665 +HGNC:32166 DPRX divergent-paired related homeobox protein-coding gene gene with protein product Approved 19q13.42 19q13.42 PRD class homeoboxes and pseudogenes 521 2005-08-08 2014-11-19 503834 ENSG00000204595 OTTHUMG00000170632 uc002qcf.1 NM_001012728 CCDS33103 A6NFQ7 611165 8529 HGNC:32166 +HGNC:32167 DPRXP1 divergent-paired related homeobox pseudogene 1 pseudogene pseudogene Approved 2q32.1 02q32.1 PRD class homeoboxes and pseudogenes 521 2005-08-08 2016-08-01 503641 ENSG00000224323 OTTHUMG00000154252 NG_004847 8357 PGOHUM00000298257 HGNC:32167 +HGNC:32168 DPRXP2 divergent-paired related homeobox pseudogene 2 pseudogene pseudogene Approved 6p21.31 06p21.31 PRD class homeoboxes and pseudogenes 521 2005-08-08 2017-10-25 503643 ENSG00000271304 OTTHUMG00000185252 NG_004848 8358 PGOHUM00000301346 HGNC:32168 +HGNC:32169 DPRXP3 divergent-paired related homeobox pseudogene 3 pseudogene pseudogene Approved 14q13.2 14q13.2 PRD class homeoboxes and pseudogenes 521 2005-08-08 2017-10-25 503644 ENSG00000282308 OTTHUMG00000191402 NG_004849 8359 PGOHUM00000292623 HGNC:32169 +HGNC:32170 DPRXP4 divergent-paired related homeobox pseudogene 4 pseudogene pseudogene Approved 17q11.2 17q11.2 PRD class homeoboxes and pseudogenes 521 2005-08-08 2020-01-06 503645 ENSG00000264743 OTTHUMG00000179181 NR_002221 8360 PGOHUM00000294386 HGNC:32170 +HGNC:32171 DPRXP5 divergent-paired related homeobox pseudogene 5 pseudogene pseudogene Approved 21q22.13 21q22.13 PRD class homeoboxes and pseudogenes 521 2005-08-08 2016-07-22 503646 ENSG00000270652 OTTHUMG00000185257 NG_004850 8361 PGOHUM00000297378 HGNC:32171 +HGNC:32172 DPRXP6 divergent-paired related homeobox pseudogene 6 pseudogene pseudogene Approved Xp11.4 Xp11.4 PRD class homeoboxes and pseudogenes 521 2005-08-08 2017-10-25 503647 ENSG00000270791 OTTHUMG00000185001 NG_004851 8362 PGOHUM00000305018 HGNC:32172 +HGNC:32173 DPRXP7 divergent-paired related homeobox pseudogene 7 pseudogene pseudogene Approved Xq23 Xq23 PRD class homeoboxes and pseudogenes 521 2005-08-08 2017-10-25 503648 ENSG00000271464 OTTHUMG00000185258 NG_004852 8363 PGOHUM00000304804 HGNC:32173 +HGNC:3011 DPT dermatopontin protein-coding gene gene with protein product Approved 1q24.2 01q24.2 1993-08-24 2016-10-05 1805 ENSG00000143196 OTTHUMG00000034554 uc001gfp.4 BC033736 NM_001937 CCDS1275 Q07507 8104875 MGI:1928392 RGD:1307176 125597 HGNC:3011 "ENST00000367817.4|NM_001937.5" +HGNC:22205 DPY19L1 dpy-19 like C-mannosyltransferase 1 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 KIAA0877 "dpy-19 like 1 (C. elegans)|dpy-19 like 1" MicroRNA protein coding host genes 1691 2005-07-19 2017-08-04 2017-08-04 23333 ENSG00000173852 OTTHUMG00000154888 uc003tem.5 AB020684 NM_001366673 CCDS43567 Q2PZI1 "22028030|28202721" MGI:1915685 RGD:1305822 613892 2.4.1.- HGNC:22205 "ENST00000638088.2|NM_001366673.1" +HGNC:22395 DPY19L1P1 DPY19L1 pseudogene 1 pseudogene pseudogene Approved 7p14.3 07p14.3 dpy-19-like 1 pseudogene 1 (C. elegans) 2005-07-19 2013-09-12 2015-03-10 100129460 ENSG00000229358 OTTHUMG00000152928 NG_008293 PGOHUM00000302091 HGNC:22395 +HGNC:22851 DPY19L1P2 DPY19L1 pseudogene 2 pseudogene pseudogene Approved 7p14.3 07p14.3 THC1072510 dpy-19-like 1 pseudogene 2 (C. elegans) 2005-07-19 2013-09-12 2020-04-20 102724668 ENSG00000231952 OTTHUMG00000152927 NR_132360 PGOHUM00000302575 HGNC:22851 +HGNC:19414 DPY19L2 dpy-19 like 2 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 "FLJ32949|SPATA34" spermatogenesis associated 34 dpy-19 like 2 (C. elegans) 2005-07-19 2016-04-14 2019-06-10 283417 ENSG00000177990 OTTHUMG00000168712 uc001srp.2 NM_173812 CCDS31851 Q6NUT2 "12975309|21397064" MGI:2444662 RGD:1564311 613893 265487 HGNC:19414 "ENST00000324472.9|NM_173812.5" HGNC:19414 +HGNC:22305 DPY19L2P1 DPY19L2 pseudogene 1 pseudogene pseudogene Approved 7p14.2 07p14.2 dpy-19-like 2 pseudogene 1 (C. elegans) 2005-07-19 2013-09-12 2015-03-16 554236 ENSG00000189212 OTTHUMG00000155026 BC066987 NR_002833 Q6NXN4 PGOHUM00000302098 HGNC:22305 +HGNC:21764 DPY19L2P2 DPY19L2 pseudogene 2 pseudogene pseudogene Approved 7q22.1 07q22.1 "DKFZp434E092|FLJ36166" dpy-19-like 2 pseudogene 2 (C. elegans) 2005-07-19 2013-09-12 2021-10-07 349152 ENSG00000170629 OTTHUMG00000157200 AL834175 NR_003561 Q6ZN68 MGI:2444662 PGOHUM00000302384 HGNC:21764 +HGNC:22367 DPY19L2P3 DPY19L2 pseudogene 3 pseudogene pseudogene Approved 7p14.3 07p14.3 dpy-19-like 2 pseudogene 3 (C. elegans) 2005-07-19 2013-09-12 2015-03-26 442524 ENSG00000227855 OTTHUMG00000152749 DQ287933 NR_036482 PGOHUM00000302565 HGNC:22367 +HGNC:22176 DPY19L2P4 DPY19L2 pseudogene 4 pseudogene pseudogene Approved 7q21.13 07q21.13 IMAGE:5295327 dpy-19-like 2 pseudogene 4 (C. elegans) 2005-07-19 2013-09-12 2015-03-16 442523 ENSG00000235436 OTTHUMG00000158346 BC031277 NR_003551 PGOHUM00000302843 HGNC:22176 +HGNC:51620 DPY19L2P5 DPY19L2 pseudogene 5 pseudogene pseudogene Approved 10q22.3 10q22.3 2015-03-26 2015-03-26 106480421 ENSG00000225100 OTTHUMG00000018594 NG_043210 PGOHUM00000289923 HGNC:51620 +HGNC:27120 DPY19L3 dpy-19 like C-mannosyltransferase 3 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 dpy-19 like 3 (C. elegans) 2005-07-19 2017-08-04 2017-08-04 147991 ENSG00000178904 OTTHUMG00000180222 uc002ntg.4 NM_207325 CCDS12422 Q6ZPD9 "26764097|282027213" MGI:2443952 RGD:1308334 613894 HGNC:27120 "ENST00000392250.7|NM_001172774.2" +HGNC:55307 DPY19L3-DT DPY19L3 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Divergent transcripts 1990 2020-10-16 2020-10-16 400684 ENSG00000267213 NR_046201 +HGNC:27829 DPY19L4 dpy-19 like 4 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 dpy-19 like 4 (C. elegans) 2005-07-19 2017-08-04 2017-08-04 286148 ENSG00000156162 OTTHUMG00000164589 uc003ygx.3 NM_181787 CCDS34924 Q7Z388 MGI:2685869 RGD:1305828 613895 HGNC:27829 "ENST00000414645.6|NM_181787.3" +HGNC:53907 DPY19L4P1 DPY19L4 pseudogene 1 pseudogene pseudogene Approved 1q44 01q44 2018-05-23 2018-05-23 100131533 ENSG00000229663 OTTHUMG00000040383 NG_022764 PGOHUM00000296163 HGNC:53907 +HGNC:53908 DPY19L4P2 DPY19L4 pseudogene 2 pseudogene pseudogene Approved 7q35 07q35 2018-05-23 2018-05-23 100420073 ENSG00000231839 OTTHUMG00000152720 NG_026650 PGOHUM00000303005 HGNC:53908 +HGNC:24590 DPY30 dpy-30 histone methyltransferase complex regulatory subunit protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "Saf19|HDPY-30|Cps25" dpy-30 homolog (C. elegans) WRAD complex 1558 2007-10-11 2019-01-21 2019-01-21 84661 ENSG00000162961 OTTHUMG00000128457 uc061hwx.1 NM_032574 CCDS1777 Q9C005 "16260194|23872946" MGI:1913560 RGD:708575 612032 HGNC:24590 "ENST00000342166.10|NM_001321209.2" +HGNC:3012 DPYD dihydropyrimidine dehydrogenase protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "DPD|DHPDHase" "Dihydrothymine dehydrogenase|Dihydrouracil dehydrogenase" 1994-07-07 2021-05-26 1806 ENSG00000188641 OTTHUMG00000039683 uc001drv.4 U20938 NM_000110 "CCDS30777|CCDS53346" Q12882 7713523 MGI:2139667 RGD:621218 "UMD Locus Specific Databases|http://www.umd.be/|LRG_722|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_722.xml" 612779 121171 objectId:3102 1.3.1.2 HGNC:3012 "ENST00000370192.8|NM_000110.4" +HGNC:40195 DPYD-AS1 DPYD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 DPYD antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-20 2012-08-15 2014-11-19 100873932 ENSG00000232878 OTTHUMG00000039682 uc031pne.1 NR_046590 DPYD-AS1 HGNC:40195 +HGNC:40196 DPYD-AS2 DPYD antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 DPYD antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-20 2012-08-15 2017-04-28 100873933 ENSG00000235777 OTTHUMG00000039680 uc031uik.2 NR_046591 28391028 DPYD-AS2 HGNC:40196 +HGNC:41326 DPYD-IT1 DPYD intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 DPYD intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874267 ENSG00000232542 OTTHUMG00000039679 uc057iot.1 DPYD-IT1 +HGNC:3013 DPYS dihydropyrimidinase protein-coding gene gene with protein product Approved 8q22.3 08q22.3 DHPase M38 metallopeptidases 1446 1997-02-27 2016-10-05 1807 ENSG00000147647 OTTHUMG00000164891 uc003yly.5 D78011 NM_001385 CCDS6302 Q14117 8973361 MGI:1928679 RGD:68376 613326 121174 M38.973 HGNC:3013 "ENST00000351513.7|NM_001385.3" HGNC:3013 +HGNC:3014 DPYSL2 dihydropyrimidinase like 2 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "DRP-2|DHPRP2|CRMP2|DRP2" dihydropyrimidinase-like 2 M38 metallopeptidases 1446 1997-02-27 2015-11-25 2016-10-05 1808 ENSG00000092964 OTTHUMG00000099439 uc003xfb.3 D78013 NM_001386 "CCDS59096|CCDS83268|CCDS6051" Q16555 8973361 MGI:1349763 RGD:2517 602463 470244 M38.975 HGNC:3014 "ENST00000521913.7|NM_001197293.3" HGNC:3014 +HGNC:3015 DPYSL3 dihydropyrimidinase like 3 protein-coding gene gene with protein product Approved 5q32 05q32 "DRP-3|ULIP|CRMP4" dihydropyrimidinase-like 3 M38 metallopeptidases 1446 1997-02-27 2015-11-25 2015-11-25 1809 ENSG00000113657 OTTHUMG00000163437 uc003lon.2 D78014 NM_001387 "CCDS43381|CCDS56387" Q14195 "8973361|9115293" MGI:1349762 RGD:2410 601168 470134 M38.976 HGNC:3015 "ENST00000343218.10|NM_001197294.2" +HGNC:3016 DPYSL4 dihydropyrimidinase like 4 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "ULIP4|DRP-4|CRMP3" dihydropyrimidinase-like 4 M38 metallopeptidases 1446 1999-07-06 2015-11-25 2019-09-04 10570 ENSG00000151640 OTTHUMG00000019283 uc009ybb.4 AB006713 NM_006426 CCDS7665 O14531 "8973361|9652388" MGI:1349764 RGD:2409 608407 M38.977 HGNC:3016 "ENST00000338492.9|NM_006426.3" +HGNC:20637 DPYSL5 dihydropyrimidinase like 5 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "CRMP5|Ulip6|CRMP-5|CRAM|CV2" collapsin response mediator protein 5 dihydropyrimidinase-like 5 M38 metallopeptidases 1446 2003-03-12 2015-11-25 2019-09-04 56896 ENSG00000157851 OTTHUMG00000097071 uc002rhu.4 AF264015 NM_020134 CCDS1730 Q9BPU6 "10851247|11034345" MGI:1929772 RGD:620467 608383 M38.978 HGNC:20637 "ENST00000288699.11|NM_020134.4" HGNC:20637 +HGNC:20410 DQX1 DEAQ-box RNA dependent ATPase 1 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 FLJ23757 DEAQ box polypeptide 1 (RNA-dependent ATPase) 2004-02-04 2016-01-07 2016-10-05 165545 ENSG00000144045 OTTHUMG00000129965 uc010yrw.3 AK074337 NM_133637 CCDS1949 Q8TE96 MGI:2136388 RGD:1591766 HGNC:20410 "ENST00000404568.4|NM_133637.3" +HGNC:3017 DR1 down-regulator of transcription 1 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "NC2-BETA|NC2B|NCB2" "negative cofactor 2|negative cofactor 2 beta" down-regulator of transcription 1, TBP-binding (negative cofactor 2) ATAC complex 1058 1996-07-11 2015-08-11 2017-05-19 1810 ENSG00000117505 OTTHUMG00000010862 uc001dpu.4 M97388 NM_001938 CCDS744 Q01658 "1339312|9040789" MGI:1100515 RGD:1305201 601482 HGNC:3017 "ENST00000370272.9|NM_001938.3" +HGNC:27082 DRAIC downregulated RNA in cancer, inhibitor of cell invasion and migration non-coding RNA RNA, long non-coding Approved 15q23 15q23 downregulated RNA in androgen independent cells Long non-coding RNAs with non-systematic symbols 1992 2015-03-19 2017-10-06 145837 ENSG00000245750 OTTHUMG00000172098 BC029061 NR_026979 25700553 616387 DRAIC HGNC:27082 +HGNC:25645 DRAM1 DNA damage regulated autophagy modulator 1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "FLJ11259|DRAM" damage-regulated autophagy modulator DNA-damage regulated autophagy modulator 1 2009-06-12 2015-11-16 2017-03-22 55332 ENSG00000136048 OTTHUMG00000170447 uc001tix.4 "BC018435|DA721965" NM_018370 CCDS41823 Q8N682 16839881 MGI:1918962 RGD:1598133 610776 HGNC:25645 "ENST00000258534.13|NM_018370.3" +HGNC:28769 DRAM2 DNA damage regulated autophagy modulator 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "MGC54289|PRO180|WWFQ154|RP5-1180E21.1" TMEM77 "transmembrane protein 77|DNA-damage regulated autophagy modulator 2" 2005-09-27 2009-06-12 2015-11-16 2021-05-26 128338 ENSG00000156171 OTTHUMG00000011911 uc001ead.5 AY336747 NM_178454 CCDS30801 Q6UX65 19556885 MGI:1914421 RGD:1564099 613360 434553 HGNC:28769 "ENST00000484310.6|NM_001349884.2" HGNC:28769 +HGNC:3019 DRAP1 DR1 associated protein 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 NC2-alpha "negative cofactor 2 alpha|DR1-associated corepressor" 1998-09-22 2016-01-19 2016-10-05 10589 ENSG00000175550 OTTHUMG00000166723 uc001ogj.3 U41843 NM_006442 CCDS8123 Q14919 8608938 MGI:1913806 RGD:1308477 602289 HGNC:3019 "ENST00000312515.7|NM_006442.4" +HGNC:25054 DRAXIN dorsal inhibitory axon guidance protein protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FLJ34999|Neucrin" "dorsal repulsive axon guidance protein|neural tissue-specific cysteine-rich protein" C1orf187 chromosome 1 open reading frame 187 2005-08-12 2012-08-14 2012-08-14 2020-04-30 374946 ENSG00000162490 OTTHUMG00000002227 uc001ass.4 AY358750 NM_198545 CCDS135 Q8NBI3 19150847 MGI:1917683 RGD:1585098 612682 HGNC:25054 "ENST00000294485.6|NM_198545.4" +HGNC:44334 DRAXINP1 dorsal inhibitory axon guidance protein pseudogene 1 pseudogene pseudogene Approved Xp22.31 Xp22.31 2012-08-14 2012-08-14 100128801 ENSG00000225574 OTTHUMG00000021108 NG_022580 PGOHUM00000241180 HGNC:44334 +HGNC:24245 DRC1 dynein regulatory complex subunit 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "MGC16372|FLJ32660|CILD21" "C2orf39|CCDC164" "chromosome 2 open reading frame 39|coiled-coil domain containing 164|dynein regulatory complex subunit 1 homolog (Chlamydomonas)" Dynein regulatory complex 981 2006-07-03 2013-03-14 2014-07-18 2021-05-26 92749 ENSG00000157856 OTTHUMG00000125531 uc002rhg.2 AL833892 NM_145038 CCDS1723 Q96MC2 23354437 MGI:2685906 RGD:1359318 615288 330717 HGNC:24245 "ENST00000288710.7|NM_145038.5" HGNC:24245 +HGNC:25384 DRC3 dynein regulatory complex subunit 3 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DKFZP586M1120|CFAP134" LRRC48 leucine rich repeat containing 48 "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2005-05-26 2015-10-05 2015-10-05 2015-10-05 83450 ENSG00000171962 OTTHUMG00000059355 AK093317 NM_031294 "CCDS45623|CCDS45622" Q9H069 "11997338|23354437" MGI:1921915 RGD:1309150 618758 HGNC:25384 "ENST00000399187.6|NM_031294.4" +HGNC:25289 DRC7 dynein regulatory complex subunit 7 protein-coding gene gene with protein product Approved 16q21 16q21 "DKFZp434I099|FAP50|CFAP50" "C16orf50|CCDC135" "chromosome 16 open reading frame 50|coiled-coil domain containing 135" "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2005-03-10 2014-09-03 2014-09-03 2016-10-05 84229 ENSG00000159625 OTTHUMG00000133473 BC036667 NM_032269 "CCDS10787|CCDS73894" Q8IY82 "21289096|22983010" MGI:2685616 RGD:1565601 618769 HGNC:25289 "ENST00000360716.8|NM_001289162.2" +HGNC:3020 DRD1 dopamine receptor D1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 Dopamine receptors 181 1990-04-27 2016-10-05 1812 ENSG00000184845 OTTHUMG00000130557 uc003mcz.4 X55760 NM_000794 CCDS4393 P21728 MGI:99578 RGD:2518 126449 objectId:214 HGNC:3020 "ENST00000393752.3|NM_000794.5" +HGNC:3023 DRD2 dopamine receptor D2 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "Dopamine receptors|MicroRNA protein coding host genes" "181|1691" 1989-02-23 2017-07-12 1813 ENSG00000149295 OTTHUMG00000167717 uc001poa.5 M29066 NM_000795 "CCDS8362|CCDS8361" P14416 MGI:94924 RGD:2520 126450 121177 objectId:215 HGNC:3023 "ENST00000362072.8|NM_000795.4" +HGNC:3024 DRD3 dopamine receptor D3 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 Dopamine receptors 181 1991-05-06 2016-10-05 1814 ENSG00000151577 OTTHUMG00000159334 uc010hqn.2 NM_000796.3 "CCDS33829|CCDS2978" P35462 1916765 MGI:94925 RGD:2521 126451 121179 objectId:216 HGNC:3024 "ENST00000383673.5|NM_000796.6" +HGNC:3025 DRD4 dopamine receptor D4 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 Dopamine receptors 181 1991-07-16 2015-08-25 1815 ENSG00000069696 OTTHUMG00000133312 uc001lqp.3 L12398 NM_000797 CCDS7710 P21917 MGI:94926 RGD:2522 126452 objectId:217 HGNC:3025 "ENST00000176183.6|NM_000797.4" +HGNC:3026 DRD5 dopamine receptor D5 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 DRD1B DRD1L2 Dopamine receptors 181 1991-06-05 2015-08-25 1816 ENSG00000169676 OTTHUMG00000128489 uc003gmb.5 X58454 NM_000798 CCDS3405 P21918 1774076 MGI:94927 RGD:2523 126453 470240 objectId:218 HGNC:3026 "ENST00000304374.4|NM_000798.5" HGNC:3026 +HGNC:3027 DRD5P1 dopamine receptor D5 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 1992-01-15 2016-10-05 1817 ENSG00000184303 OTTHUMG00000155074 NG_005112 1387108 PGOHUM00000240174 HGNC:3027 +HGNC:3028 DRD5P2 dopamine receptor D5 pseudogene 2 pseudogene pseudogene Approved 1q21.1 01q21.1 1992-01-15 2016-10-05 1818 ENSG00000175658 OTTHUMG00000013836 NR_111001 1387108 PGOHUM00000244982 HGNC:3028 +HGNC:3029 DRG1 developmentally regulated GTP binding protein 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 NEDD3 developmentally regulated GTP-binding protein 1 1994-01-21 2001-11-28 2014-11-18 4733 ENSG00000185721 OTTHUMG00000030792 uc003aku.4 AJ005940 NM_004147 CCDS13897 Q9Y295 "7929244|1449490" MGI:1343297 RGD:1304993 603952 HGNC:3029 "ENST00000331457.9|NM_004147.4" HGNC:3029 +HGNC:54701 DRG1P1 DRG1 pseudogene 1 pseudogene pseudogene Approved 2p24.1 02p24.1 2019-11-29 2020-01-21 151457 ENSG00000235411 NG_021495 +HGNC:3030 DRG2 developmentally regulated GTP binding protein 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 developmentally regulated GTP-binding protein 2 1997-10-21 2001-11-28 2016-10-05 1819 ENSG00000108591 OTTHUMG00000059399 uc002gsh.3 X80754 NM_001388 "CCDS11191|CCDS82082" P55039 "9605870|7929244" MGI:1342307 RGD:1562380 602986 HGNC:3030 "ENST00000225729.8|NM_001388.5" +HGNC:21536 DRGX dorsal root ganglia homeobox protein-coding gene gene with protein product Approved 10q11.23 10q11.23 DRG11 paired-like homeodomain trancription factor DRG11 PRRXL1 paired related homeobox-like 1 PRD class homeoboxes and pseudogenes 521 2004-02-02 2007-07-26 2007-07-26 2018-11-15 644168 ENSG00000165606 OTTHUMG00000018192 uc057tel.1 NM_001276451 CCDS44388 A6NNA5 7496632 MGI:2148204 RGD:628616 606701 8579 HGNC:21536 "ENST00000374139.8|NM_001276451.2" +HGNC:28031 DRICH1 aspartate rich 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 C22orf43 chromosome 22 open reading frame 43 2009-04-06 2014-02-19 2016-06-06 2016-06-06 51233 ENSG00000189269 OTTHUMG00000186352 BC056888 NM_016449 CCDS42985 Q6PGQ1 11230166 HGNC:28031 "ENST00000317749.9|NM_016449.4" +HGNC:17904 DROSHA drosha ribonuclease III protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "RNASE3L|Etohi2|HSA242976|RN3" "drosha, ribonuclease type III|drosha, double-stranded RNA-specific endoribonuclease" RNASEN "ribonuclease type III, nuclear|drosha, ribonuclease type III" Endoribonucleases 1687 2005-05-12 2010-10-28 2016-01-21 2016-10-05 29102 ENSG00000113360 OTTHUMG00000161976 uc003jhg.3 AF116910 NM_013235 "CCDS47194|CCDS47195" Q9NRR4 "10713462|10948199" MGI:1261425 RGD:1307626 DROSHA 608828 3.1.26.3 HGNC:17904 "ENST00000344624.8|NM_001382508.1" +HGNC:3032 DRP2 dystrophin related protein 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 Zinc fingers ZZ-type 91 1996-07-17 2020-04-02 1821 ENSG00000102385 OTTHUMG00000022020 uc065agk.1 U43519 NM_001939 "CCDS55465|CCDS14480" Q13474 8640231 MGI:107432 RGD:621750 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DRP2 300052 470242 HGNC:3032 "ENST00000395209.8|NM_001939.3" HGNC:3032 +HGNC:3035 DSC1 desmocollin 1 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 CDHF1 Desmosomal cadherins 1188 1991-09-25 2015-09-11 1823 ENSG00000134765 OTTHUMG00000131982 uc002kwn.4 AF293358 "NM_004948|NM_024421" "CCDS11894|CCDS11895" Q08554 8486729 MGI:109173 RGD:1310768 125643 HGNC:3035 "ENST00000257198.6|NM_024421.2" +HGNC:3036 DSC2 desmocollin 2 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 CDHF2 DSC3 Desmosomal cadherins 1188 1997-05-29 2021-05-26 1824 ENSG00000134755 OTTHUMG00000131981 uc002kwl.5 X56807 NM_004949 "CCDS11893|CCDS11892" Q02487 7774948 MGI:103221 RGD:1309426 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DSC2|LRG_400|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_400.xml" 125645 121185 HGNC:3036 "ENST00000280904.11|NM_024422.6" HGNC:3036 +HGNC:3037 DSC3 desmocollin 3 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "CDHF3|DSC|DSC1|DSC2" DSC4 Desmosomal cadherins 1188 1991-03-04 2021-05-26 1825 ENSG00000134762 OTTHUMG00000179622 uc002kwj.5 X83929 "NM_001941|NM_024423" CCDS32810 Q14574 "7774948|8486729" MGI:1194993 RGD:1311782 600271 220928 HGNC:3037 "ENST00000360428.9|NM_001941.5" HGNC:3037 +HGNC:3039 DSCAM DS cell adhesion molecule protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "CHD2-42|CHD2-52" Down syndrome cell adhesion molecule "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family|MicroRNA protein coding host genes" "555|593|1410|1691" 1998-06-10 2016-05-13 2016-10-05 1826 ENSG00000171587 OTTHUMG00000086732 uc002yyq.2 AF023449 NM_001389 CCDS42929 O60469 9426258 MGI:1196281 RGD:619992 602523 470246 HGNC:3039 "ENST00000400454.6|NM_001389.5" HGNC:3039 +HGNC:40197 DSCAM-AS1 DSCAM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 M41 DSCAM antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-20 2012-08-15 2017-02-17 100506492 ENSG00000235123 OTTHUMG00000086733 uc002yys.3 NR_038896 27666543 DSCAM-AS1 HGNC:40197 +HGNC:41327 DSCAM-IT1 DSCAM intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 DSCAM intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874326 ENSG00000233756 OTTHUMG00000086730 uc031rvs.1 NR_046774 DSCAM-IT1 HGNC:41327 +HGNC:14656 DSCAML1 DS cell adhesion molecule like 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 KIAA1132 Down syndrome cell adhesion molecule like 1 "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2002-05-29 2016-05-13 2016-05-13 57453 ENSG00000177103 OTTHUMG00000167071 uc001prh.1 NM_020693 CCDS8384 Q8TD84 11453658 MGI:2150309 RGD:1304887 611782 HGNC:14656 "ENST00000651296.2|NM_020693.4" HGNC:14656 +HGNC:51116 DSCAS DSC1/DSC2 antisense RNA non-coding RNA RNA, long non-coding Approved 18q12.1 18q12.1 Long non-coding RNAs with non-systematic symbols 1992 2014-07-30 2014-07-30 101927698 ENSG00000265888 OTTHUMG00000179623 NR_110785 DSCAS HGNC:51116 +HGNC:24453 DSCC1 DNA replication and sister chromatid cohesion 1 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "DCC1|hDCC1|MGC5528" defective in sister chromatid cohesion homolog 1 (S. cerevisiae) defective in sister chromatid cohesion 1 homolog (S. cerevisiae) 2008-02-05 2013-05-24 2014-11-19 79075 ENSG00000136982 OTTHUMG00000165010 uc003yov.4 NM_024094 CCDS6330 Q9BVC3 "12766176|20826785" MGI:1919357 RGD:1561749 613203 HGNC:24453 "ENST00000313655.5|NM_024094.3" +HGNC:3045 DSCR4 Down syndrome critical region 4 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 DCRB Long non-coding RNAs with non-systematic symbols 1992 2000-03-06 2014-11-14 2019-10-30 10281 ENSG00000184029 OTTHUMG00000086673 uc002ywp.3 AB000099 NR_147130 P56555 "9455479|27289096" 604829 HGNC:3045 +HGNC:41328 DSCR4-IT1 DSCR4 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 DSCR4 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100874327 ENSG00000223608 OTTHUMG00000086672 uc062abc.1 DSCR4-IT1 +HGNC:16707 DSCR8 Down syndrome critical region 8 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 "MTAG2|CT25.1a|CT25.1b|MMA-1a|MMA-1b" "cancer/testis antigen family 25, member 1a|cancer/testis antigen family 25, member 1b|malignant melanoma-associated 1" C21orf65 "chromosome 21 open reading frame 65|Down syndrome critical region 8 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-09-28 2018-05-11 2019-09-05 84677 ENSG00000198054 OTTHUMG00000090610 uc062abe.1 AF321193 NR_026838 Q96T75 "9503011|12036297|11920614" 613396 HGNC:16707 +HGNC:16301 DSCR9 Down syndrome critical region 9 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 NCRNA00038 non-protein coding RNA 38 Down syndrome critical region 9 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2002-08-15 2018-05-11 2018-05-11 257203 ENSG00000230366 OTTHUMG00000086655 uc031rvh.2 AB066100 NR_026719 P59020 12168953 DSCR9 HGNC:16301 +HGNC:16302 DSCR10 Down syndrome critical region 10 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 Down syndrome critical region 10 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2002-08-15 2018-05-11 2018-05-11 259234 ENSG00000233316 OTTHUMG00000090611 uc010gnt.2 AB066291 NR_027695.1 P59022 12168953 DSCR10 HGNC:16302 +HGNC:21144 DSE dermatan sulfate epimerase protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "DSEPI|DS-Epi1" SART2 squamous cell carcinoma antigen recognized by T cells 2 2003-05-20 2007-01-29 2007-01-29 2021-04-13 29940 ENSG00000111817 OTTHUMG00000015434 uc003pws.5 AF098066 NM_013352 "CCDS87432|CCDS5107|CCDS87433" Q9UL01 "11920522|16505484" MGI:2443455 RGD:1305079 LRG_1184|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1184.xml 605942 358666 5.1.3.19 HGNC:21144 "ENST00000644252.3|NM_013352.4" HGNC:21144 +HGNC:18144 DSEL dermatan sulfate epimerase like protein-coding gene gene with protein product Approved 18q22.1 18q22.1 "NCAG1|FLJ11477|DE-epi2" C18orf4 "chromosome 18 open reading frame 4|dermatan sulfate epimerase-like" 2002-02-12 2007-01-29 2018-02-05 2018-02-05 92126 ENSG00000171451 OTTHUMG00000132804 uc002lke.2 AF480435 NM_032160 CCDS11995 Q8IZU8 "16505484|19188366" MGI:2442948 RGD:1307724 611125 5.1.3.19 HGNC:18144 "ENST00000310045.9|NM_032160.3" +HGNC:55325 DSEL-AS1 DSEL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q22.1 18q22.1 Antisense RNAs 1987 2020-10-21 2020-10-21 643542 ENSG00000265533 NR_033921 +HGNC:3048 DSG1 desmoglein 1 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 CDHF4 DSG Desmosomal cadherins 1188 1991-03-04 2021-05-26 1828 ENSG00000134760 OTTHUMG00000131983 uc002kwp.4 X56654 NM_001942 CCDS11896 Q02413 1889810 "MGI:2664357|MGI:2664358|MGI:94930" RGD:1309925 125670 121189 HGNC:3048 "ENST00000257192.5|NM_001942.4" HGNC:3048 +HGNC:51115 DSG1-AS1 DSG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q12.1 18q12.1 Antisense RNAs 1987 2014-07-30 2014-07-30 101927718 ENSG00000266729 OTTHUMG00000179625 NR_110788 DSG1-AS1 HGNC:51115 +HGNC:3049 DSG2 desmoglein 2 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 CDHF5 Desmosomal cadherins 1188 1991-11-15 2021-05-26 1829 ENSG00000046604 OTTHUMG00000179649 uc002kwu.5 Z26317 NM_001943 CCDS42423 Q14126 1612610 MGI:1196466 RGD:1311143 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DSG2|LRG_397|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_397.xml" 125671 121193 HGNC:3049 "ENST00000261590.13|NM_001943.5" HGNC:3049 +HGNC:51311 DSG2-AS1 DSG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q12.1 18q12.1 Antisense RNAs 1987 2014-09-26 2014-09-26 100652770 ENSG00000264859 OTTHUMG00000179650 BC042986 NR_045216 DSG2-AS1 HGNC:51311 +HGNC:3050 DSG3 desmoglein 3 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 CDHF6 pemphigus vulgaris antigen desmoglein 3 (pemphigus vulgaris antigen) Desmosomal cadherins 1188 1992-08-25 2010-06-24 2015-09-11 1830 ENSG00000134757 OTTHUMG00000131985 uc002kws.4 M76482 NM_001944 CCDS11898 P32926 1601426 MGI:99499 RGD:1592103 169615 HGNC:3050 "ENST00000257189.5|NM_001944.3" +HGNC:21307 DSG4 desmoglein 4 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "CDHF13|LAH" Desmosomal cadherins 1188 2003-06-04 2021-05-26 147409 ENSG00000175065 OTTHUMG00000131979 uc002kwq.3 "AY177664|AY168788" NM_177986 "CCDS45845|CCDS11897" Q86SJ6 12648213 MGI:2661061 RGD:735015 607892 159421 HGNC:21307 "ENST00000308128.9|NM_177986.5" HGNC:21307 +HGNC:16165 DSN1 DSN1 component of MIS12 kinetochore complex protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "dJ469A13.2|MIS13|KNL3|hKNL-3" kinetochore null 3 homolog (C. elegans) C20orf172 "chromosome 20 open reading frame 172|DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)|DSN1 homolog, MIS12 kinetochore complex component" MIS12 kinetochore complex 1322 2001-07-17 2006-11-07 2019-01-25 2019-01-25 79980 ENSG00000149636 OTTHUMG00000032396 uc002xga.4 AK023408 NM_024918 "CCDS46596|CCDS46597|CCDS13286" Q9H410 "16585270|20819937" MGI:1914184 RGD:1565179 609175 HGNC:16165 "ENST00000373750.9|NM_001145315.2" +HGNC:3052 DSP desmoplakin protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "KPPS2|PPKS2|DPI|DPII" desmoplakin (DPI, DPII) Plakins 939 1991-03-04 2003-05-20 2021-04-13 1832 ENSG00000096696 OTTHUMG00000014212 uc003mxp.2 J05211 NM_004415 "CCDS4501|CCDS47368" P15924 1889810 MGI:109611 RGD:1305794 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DSP|LRG_423|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_423.xml" 125647 121196 HGNC:3052 "ENST00000379802.8|NM_004415.4" HGNC:3052 +HGNC:56039 DSP-AS1 DSP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p24.3 06p24.3 Antisense RNAs 1987 2021-12-08 2021-12-08 101928076 ENSG00000261189 XR_007059905 +HGNC:3054 DSPP dentin sialophosphoprotein protein-coding gene gene with protein product Approved 4q22.1 04q22.1 DMP3 "DFNA39|DGI1" SIBLING family 1279 1997-01-08 2021-05-26 1834 ENSG00000152591 OTTHUMG00000161061 uc003hqu.3 AF163151 NM_014208 CCDS43248 Q9NZW4 "8995371|9533027" MGI:109172 RGD:2525 LRG_1242|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1242.xml 125485 121202 HGNC:3054 "ENST00000651931.1|NM_014208.3" HGNC:3054 +HGNC:1090 DST dystonin protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "BP240|KIAA0728|FLJ21489|FLJ13425|FLJ32235|FLJ30627|CATX-15|BPA|MACF2" BPAG1 bullous pemphigoid antigen 1, 230/240kDa "EF-hand domain containing|Plakins" "863|939" 1990-05-11 2004-07-01 2004-06-25 2020-09-17 667 ENSG00000151914 OTTHUMG00000014913 uc063peq.1 "M22942|M69225" NM_001723 "CCDS47443|CCDS4959|CCDS75474" Q03001 "2461961|2276744" MGI:104627 RGD:1306566 113810 293042 HGNC:1090 "ENST00000680361.1|NM_001374736.1" HGNC:1090 +HGNC:40098 DST-AS1 DST antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 Antisense RNAs 1987 2019-07-25 2019-07-25 101930010 ENSG00000231441 OTTHUMG00000014909 NR_125866 HGNC:40098 +HGNC:15750 DSTN destrin, actin depolymerizing factor protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "ADF|ACTDP" destrin (actin depolymerizing factor) 2001-12-07 2016-04-05 2016-04-05 11034 ENSG00000125868 OTTHUMG00000031947 uc002wpr.4 S65738 NM_001011546 "CCDS46580|CCDS13127" P60981 "8399167|2156828" MGI:1929270 RGD:1588366 609114 HGNC:15750 "ENST00000246069.12|NM_006870.4" +HGNC:23769 DSTNP1 DSTN pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 "destrin (actin depolymerizing factor) pseudogene 1|destrin, actin depolymerizing factor pseudogene 1" 2003-12-15 2019-01-21 2019-01-21 387492 ENSG00000230982 OTTHUMG00000048830 NG_028763 PGOHUM00000258117 HGNC:23769 +HGNC:34546 DSTNP2 DSTN pseudogene 2 pseudogene pseudogene Approved 12p13.31 12p13.31 "destrin (actin depolymerizing factor) pseudogene 2|destrin, actin depolymerizing factor pseudogene 2" 2010-09-30 2019-01-21 2019-01-21 171220 ENSG00000248593 OTTHUMG00000156666 U72518 NR_033796 PGOHUM00000239634 HGNC:34546 +HGNC:34547 DSTNP3 DSTN pseudogene 3 pseudogene pseudogene Approved 8q21.11 08q21.11 "destrin (actin depolymerizing factor) pseudogene 3|destrin, actin depolymerizing factor pseudogene 3" 2010-09-30 2019-01-21 2020-04-06 100287016 ENSG00000253833 OTTHUMG00000164503 NG_028172 PGOHUM00000249715 HGNC:34547 +HGNC:44548 DSTNP4 DSTN pseudogene 4 pseudogene pseudogene Approved 3p22.2 03p22.2 "destrin (actin depolymerizing factor) pseudogene 4|destrin, actin depolymerizing factor pseudogene 4" 2012-11-15 2019-01-21 2019-01-21 729454 ENSG00000215034 OTTHUMG00000156247 XM_047449432 PGOHUM00000237998 HGNC:44548 +HGNC:44549 DSTNP5 DSTN pseudogene 5 pseudogene pseudogene Approved 2q33.3 02q33.3 "destrin (actin depolymerizing factor) pseudogene 5|destrin, actin depolymerizing factor pseudogene 5" 2012-11-15 2019-01-21 2019-01-21 100132132 ENSG00000236681 OTTHUMG00000154541 NG_021600 PGOHUM00000241085 HGNC:44549 +HGNC:29043 DSTYK dual serine/threonine and tyrosine protein kinase protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "KIAA0472|DustyPK|RIP5" "RIPK5|SPG23" "receptor interacting protein kinase 5|spastic paraplegia 23 (autosomal recessive)" 2004-08-02 2008-12-18 2008-12-18 2021-05-26 25778 ENSG00000133059 OTTHUMG00000037102 uc001hbw.4 AF068286 NM_015375 "CCDS1451|CCDS1452" Q6XUX3 "15178406|28157540" MGI:1925064 RGD:735051 612666 406487 objectId:2008 HGNC:29043 "ENST00000367162.8|NM_015375.3" HGNC:29043 +HGNC:16219 DTD1 D-aminoacyl-tRNA deacylase 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "DUEB|MGC119131|MGC41905|bA379J5.3|bA555E18.1|pqn-68" DNA-unwinding element-binding protein B "C20orf88|HARS2" "chromosome 20 open reading frame 88|D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)|D-tyrosyl-tRNA deacylase 1" 2001-07-17 2007-02-23 2019-03-14 2019-03-14 92675 ENSG00000125821 OTTHUMG00000031980 uc002wrf.5 AF332356 NM_080820 "CCDS86938|CCDS13138" Q8TEA8 MGI:1913294 RGD:1311821 610996 3.1.1.96 HGNC:16219 "ENST00000377452.4|NM_080820.6" +HGNC:40762 DTD1-AS1 DTD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 Antisense RNAs 1987 2019-07-25 2019-07-25 101929526 ENSG00000233993 OTTHUMG00000046204 NR_109955 HGNC:40762 +HGNC:20277 DTD2 D-aminoacyl-tRNA deacylase 2 protein-coding gene gene with protein product Approved 14q12 14q12 MGC9912 C14orf126 "chromosome 14 open reading frame 126|D-tyrosyl-tRNA deacylase 2 (putative)" 2003-01-17 2012-09-25 2019-03-14 2019-03-14 112487 ENSG00000129480 OTTHUMG00000140205 uc001wrj.5 BC010618 NM_080664 CCDS9643 Q96FN9 29410408 MGI:1923485 RGD:1309138 HGNC:20277 "ENST00000310850.9|NM_080664.3" +HGNC:37261 DTHD1 death domain containing 1 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ16686 2009-10-02 2015-08-25 401124 ENSG00000197057 OTTHUMG00000160371 uc021xne.2 AK094684 NM_001136536 CCDS54754 Q6ZMT9 MGI:4937018 RGD:2323176 616979 HGNC:37261 "ENST00000639862.2|NM_001170700.3" HGNC:37261 +HGNC:30288 DTL denticleless E3 ubiquitin protein ligase homolog protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "RAMP|L2DTL|DCAF2|CDT2" "RA regulated nuclear matrix associated protein|DDB1 and CUL4 associated factor 2" "denticleless homolog (Drosophila)|denticleless E3 ubiquitin protein ligase homolog (Drosophila)" "WD repeat domain containing|DDB1 and CUL4 associated factors|MicroRNA protein coding host genes" "362|498|1691" 2005-05-16 2016-01-19 2016-10-05 51514 ENSG00000143476 OTTHUMG00000037133 uc009xdc.5 AF195765 NM_016448 "CCDS65778|CCDS1502" Q9NZJ0 11278750 MGI:1924093 RGD:1310439 610617 HGNC:30288 "ENST00000366991.5|NM_016448.4" +HGNC:3057 DTNA dystrobrevin alpha protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "D18S892E|DTN|DTN-1|DTN-2|DTN-3|DRP3" dystrophin-related protein 3 dystrobrevin, alpha Zinc fingers ZZ-type 91 1998-02-11 2015-12-01 2021-04-13 1837 ENSG00000134769 OTTHUMG00000132309 uc002kyb.6 U84540 NM_001390 "CCDS59310|CCDS59313|CCDS59309|CCDS42426|CCDS56062|CCDS56063|CCDS45848|CCDS59311|CCDS59312|CCDS11908|CCDS11909|CCDS59314|CCDS56060|CCDS56061" Q9Y4J8 "8081380|15834686" MGI:106039 RGD:1561985 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/DTNA|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DTNA|LRG_756|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_756.xml" 601239 121219 HGNC:3057 "ENST00000444659.6|NM_001386795.1" HGNC:3057 +HGNC:3058 DTNB dystrobrevin beta protein-coding gene gene with protein product Approved 2p23.3 02p23.3 dystrobrevin, beta Zinc fingers ZZ-type 91 1998-02-11 2015-11-05 2016-10-05 1838 ENSG00000138101 OTTHUMG00000152129 uc002rgh.5 AF022728 NM_033147 "CCDS58702|CCDS46236|CCDS46233|CCDS46234|CCDS46235|CCDS46237|CCDS74496|CCDS82428" O60941 9419360 MGI:1203728 RGD:1309579 602415 HGNC:3058 "ENST00000406818.8|NM_021907.5" +HGNC:40198 DTNB-AS1 DTNB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 Antisense RNAs 1987 2019-07-25 2019-07-25 101929272 ENSG00000224220 OTTHUMG00000155125 XR_244976 HGNC:40198 +HGNC:17328 DTNBP1 dystrobrevin binding protein 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "Dysbindin|My031|HPS7|DBND|BLOC1S8" "dysbindin-1|biogenesis of lysosomal organelles complex-1, subunit 8" Biogenesis of lysosomal organelles complex 1 subunits 452 2002-01-15 2021-04-13 84062 ENSG00000047579 OTTHUMG00000014295 uc031smw.2 AF394226 NM_032122 "CCDS75404|CCDS4534|CCDS75405|CCDS4535" Q96EV8 11316798 MGI:2137586 RGD:1590759 LRG_588|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_588.xml 607145 121227 HGNC:17328 "ENST00000344537.10|NM_032122.5" HGNC:17328 +HGNC:30926 DTWD1 DTW domain containing 1 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "MDS009|MGC111207" 2005-07-21 2014-11-19 56986 ENSG00000104047 OTTHUMG00000131567 uc001zxq.4 BC032535 NM_020234 CCDS10132 Q8N5C7 MGI:1916435 RGD:1311144 HGNC:30926 "ENST00000403028.8|NM_001144955.2" +HGNC:19334 DTWD2 DTW domain containing 2 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 FLJ33977 2005-07-21 2014-11-19 285605 ENSG00000169570 OTTHUMG00000162956 uc003ksa.4 NM_173666 "CCDS78050|CCDS34216" Q8NBA8 MGI:1916107 RGD:1306423 HGNC:19334 "ENST00000510708.6|NM_173666.4" +HGNC:3060 DTX1 deltex E3 ubiquitin ligase 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "hDx-1|RNF140" deltex homolog 1 (Drosophila) Ring finger proteins 58 1998-05-15 2016-06-10 2017-12-15 1840 ENSG00000135144 OTTHUMG00000169610 uc001tuk.2 AF053700 NM_004416 CCDS9164 Q86Y01 "9590294|12670957" MGI:1352744 RGD:1585380 602582 HGNC:3060 "ENST00000548759.2|NM_004416.3" +HGNC:15973 DTX2 deltex E3 ubiquitin ligase 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "RNF58|KIAA1528" "deltex (Drosophila) homolog 2|deltex homolog 2 (Drosophila)|deltex 2, E3 ubiquitin ligase" Ring finger proteins 58 2001-08-13 2016-06-10 2016-07-25 113878 ENSG00000091073 OTTHUMG00000162594 uc003uff.5 NM_001102594 "CCDS43605|CCDS5587" Q86UW9 12670957 MGI:1921448 RGD:1561790 613141 6.3.2.- HGNC:15973 "ENST00000430490.7|NM_001102594.3" +HGNC:42352 DTX2P1 DTX2 pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 2011-06-29 2014-01-28 2014-01-28 107161144 ENSG00000186704 OTTHUMG00000155661 NG_046686 PGOHUM00000250953 HGNC:42352 +HGNC:42360 DTX2P1-UPK3BP1-PMS2P11 DTX2P1-UPK3BP1-PMS2P11 readthrough, transcribed pseudogene other readthrough Approved 7q11.23 07q11.23 DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) 2011-07-06 2016-02-03 2016-02-03 441263 ENSG00000265479 OTTHUMG00000179528 uc011kgn.2 U38980 NR_023383 HGNC:42360 +HGNC:24457 DTX3 deltex E3 ubiquitin ligase 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "FLJ34766|RNF154" "deltex 3 homolog (Drosophila)|deltex homolog 3 (Drosophila)" Ring finger proteins 58 2004-02-23 2016-06-10 2016-10-05 196403 ENSG00000178498 OTTHUMG00000170189 uc031zdt.2 AK094385 NM_178502 "CCDS66410|CCDS41800" Q8N9I9 12670957 MGI:2135752 RGD:1566181 613142 HGNC:24457 "ENST00000337737.8|NM_178502.4" +HGNC:30323 DTX3L deltex E3 ubiquitin ligase 3L protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "BBAP|RNF143" rhysin 2 deltex 3-like (Drosophila) Ring finger proteins 58 2004-12-03 2016-06-10 2017-12-15 151636 ENSG00000163840 OTTHUMG00000159524 uc003efk.4 NM_138287 CCDS3015 Q8TDB6 "12670957|22411408" MGI:2656973 RGD:1565144 613143 HGNC:30323 "ENST00000296161.9|NM_138287.3" +HGNC:29151 DTX4 deltex E3 ubiquitin ligase 4 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "KIAA0937|RNF155" deltex homolog 4 (Drosophila) Ring finger proteins 58 2004-02-23 2016-06-10 2018-11-15 23220 ENSG00000110042 OTTHUMG00000167336 uc001nns.3 AB023154 NM_015177 "CCDS44612|CCDS76408" Q9Y2E6 "10231032|22388039" MGI:2672905 RGD:1311767 616110 HGNC:29151 "ENST00000227451.4|NM_015177.2" +HGNC:3061 DTYMK deoxythymidylate kinase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "CDC8|TYMK|TMPK" "dTMP kinase|thymidylate (dTMP) kinase" deoxythymidylate kinase (thymidylate kinase) 1991-09-12 2015-11-05 2016-10-05 1841 ENSG00000168393 OTTHUMG00000133409 uc002wbz.3 X54729 NM_012145 CCDS2552 P23919 "2017365|8024690" MGI:108396 RGD:1309614 188345 2.7.4.9 HGNC:3061 "ENST00000305784.7|NM_012145.4" HGNC:3061 +HGNC:48569 DUBR DPPA2 upstream binding RNA non-coding RNA RNA, long non-coding Approved 3q13.12 03q13.12 LINC00883 long intergenic non-protein coding RNA 883 Long non-coding RNAs with non-systematic symbols 1992 2013-05-17 2015-09-10 2015-09-10 2015-09-10 344595 ENSG00000243701 OTTHUMG00000159173 NR_028301 "24886442|25686699" MGI:1915440 616619 DUBR HGNC:48569 +HGNC:3062 DUOX1 dual oxidase 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "NOXEF1|THOX1|LNOX1" "NADPH thyroid oxidase 1|flavoprotein NADPH oxidase|nicotinamide adenine dinucleotide phosphate oxidase" EF-hand domain containing 863 2000-05-30 2021-05-26 53905 ENSG00000137857 OTTHUMG00000171987 uc001zus.3 AF213465 NM_017434 CCDS32221 Q9NRD9 10806195 MGI:2139422 RGD:628760 606758 470248 objectId:3000 HGNC:3062 "ENST00000389037.7|NM_175940.3" +HGNC:13273 DUOX2 dual oxidase 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "P138-TOX|P138(TOX)|THOX2|LNOX2" "dual oxidase-like domains 2|nicotinamide adenine dinucleotide phosphate oxidase|flavoprotein NADPH oxidase|NADPH thyroid oxidase 2|NADH/NADPH thyroid oxidase p138-tox|NADPH oxidase/peroxidase DUOX2" EF-hand domain containing 863 2000-11-09 2021-05-26 50506 ENSG00000140279 OTTHUMG00000131355 uc010bea.4 AF181972 NM_014080 "CCDS10117|CCDS86454" Q9NRD8 "10601291|10806195" MGI:3036280 RGD:628761 606759 121233 objectId:2999 HGNC:13273 "ENST00000389039.11|NM_001363711.2" HGNC:13273 +HGNC:26507 DUOXA1 dual oxidase maturation factor 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "FLJ32334|NUMBIP|NIP|mol" 2006-05-16 2006-07-25 2006-01-23 2014-11-18 90527 ENSG00000140254 OTTHUMG00000131352 uc001zuq.3 BC029819 NM_144565 "CCDS61620|CCDS10119|CCDS61619|CCDS61621" Q1HG43 16651268 MGI:2384861 RGD:1306601 612771 470250 HGNC:26507 "ENST00000560572.6|NM_001276266.2" +HGNC:32698 DUOXA2 dual oxidase maturation factor 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 2006-05-16 2006-07-25 2021-05-26 405753 ENSG00000140274 OTTHUMG00000131354 uc001zuo.4 BX537581 NM_207581 CCDS10118 Q1HG44 16651268 MGI:1914061 RGD:1560628 612772 168179 HGNC:32698 "ENST00000323030.6|NM_207581.4" HGNC:32698 +HGNC:30086 DUS1L dihydrouridine synthase 1 like protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "PP3111|DUS1" dihydrouridine synthase 1-like (S. cerevisiae) 2005-05-05 2016-02-15 2016-02-15 64118 ENSG00000169718 OTTHUMG00000178525 uc002kdr.5 NM_022156 CCDS32775 Q6P1R4 12477932 MGI:1915980 RGD:708389 HGNC:30086 "ENST00000306796.10|NM_022156.5" +HGNC:26014 DUS2 dihydrouridine synthase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ20399|SMM1" "SMM1 homolog (S. cerevisiae)|tRNA-dihydrouridine(20) synthase (NAD(P)(+))" DUS2L "dihydrouridine synthase 2-like (SMM1, S. cerevisiae)|dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)|dihydrouridine synthase 2-like" 2005-05-05 2013-07-23 2013-07-23 2016-02-15 54920 ENSG00000167264 OTTHUMG00000137538 NM_017803 "CCDS61970|CCDS10859" Q9NX74 "15994936|22741570" MGI:1913619 RGD:1305612 609707 1.3.1.91 HGNC:26014 "ENST00000565263.6|NM_017803.5" +HGNC:26920 DUS3L dihydrouridine synthase 3 like protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "DUS3|FLJ13896" dihydrouridine synthase 3-like (S. cerevisiae) 2005-05-05 2016-02-15 2016-02-15 56931 ENSG00000141994 OTTHUMG00000162311 uc002mdc.4 NM_020175 "CCDS32880|CCDS54202" Q96G46 12477932 MGI:2147092 RGD:1563228 HGNC:26920 "ENST00000309061.12|NM_020175.3" +HGNC:21517 DUS4L dihydrouridine synthase 4 like protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "PP35|DUS4" protein similar to E.coli yhdg and R. capsulatus nifR3 dihydrouridine synthase 4-like (S. cerevisiae) 2005-05-05 2016-02-03 2016-02-15 11062 ENSG00000105865 OTTHUMG00000154763 uc003veh.5 U62767 NM_181581 CCDS5745 O95620 MGI:1919166 RGD:1311445 HGNC:21517 "ENST00000265720.8|NM_181581.3" +HGNC:54422 DUS4L-BCAP29 DUS4L-BCAP29 readthrough other readthrough Approved 7q22.3 07q22.3 2019-07-22 2020-11-11 115253422 ENSG00000288558 NM_001371364 28415823 HGNC:54422 +HGNC:3064 DUSP1 dual specificity phosphatase 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "HVH1|CL100|MKP-1" PTPN10 MAP kinase phosphatases 895 1993-03-03 2015-09-11 1843 ENSG00000120129 OTTHUMG00000130523 uc003mbv.3 X68277 NM_004417 CCDS4380 P28562 "1406996|7806236" MGI:105120 RGD:620897 600714 HGNC:3064 "ENST00000239223.4|NM_004417.4" +HGNC:3068 DUSP2 dual specificity phosphatase 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 PAC-1 MAP kinase phosphatases 895 1994-12-14 2016-10-05 1844 ENSG00000158050 OTTHUMG00000130456 uc002svk.5 L11329 NM_004418 CCDS2016 Q05923 "7806236|7590752|12673251" MGI:101911 RGD:1305804 603068 HGNC:3068 "ENST00000288943.5|NM_004418.4" +HGNC:3069 DUSP3 dual specificity phosphatase 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 VHR vaccinia virus phosphatase VH1-related Atypical dual specificity phosphatases 896 1994-05-19 2008-02-04 2016-10-05 1845 ENSG00000108861 OTTHUMG00000180889 uc002ied.5 BC035701 NM_004090 CCDS11469 P51452 7829094 MGI:1919599 RGD:1560049 600183 HGNC:3069 "ENST00000226004.8|NM_004090.4" +HGNC:3070 DUSP4 dual specificity phosphatase 4 protein-coding gene gene with protein product Approved 8p12 08p12 "HVH2|MKP-2|TYP" "VH1 homologous phosphatase 2|MAP kinase phosphatase 2" MAP kinase phosphatases 895 1994-12-14 2016-10-05 1846 ENSG00000120875 OTTHUMG00000133395 uc003xhm.4 U21108 NM_001394 "CCDS6072|CCDS6073" Q13115 "7535768|9205128" MGI:2442191 RGD:620625 602747 HGNC:3070 "ENST00000240100.7|NM_001394.7" +HGNC:3071 DUSP5 dual specificity phosphatase 5 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 HVH3 MAP kinase phosphatases 895 1994-12-14 2016-10-05 1847 ENSG00000138166 OTTHUMG00000019040 uc001kzd.4 U16996 NM_004419 CCDS7566 Q16690 7806236 MGI:2685183 RGD:620854 603069 HGNC:3071 "ENST00000369583.4|NM_004419.4" +HGNC:55154 DUSP5-DT DUSP5 divergent transcript non-coding RNA RNA, long non-coding Approved 10q25.2 10q25.2 Divergent transcripts 1990 2020-07-15 2020-07-15 105378481 ENSG00000273143 XR_946316 +HGNC:32020 DUSP5P1 dual specificity phosphatase 5 pseudogene 1 pseudogene pseudogene Approved 1q42.13 01q42.13 FLJ34941 DUSP5P dual specificity phosphatase 5 pseudogene 2005-06-30 2012-11-07 2012-11-07 2014-11-19 574029 ENSG00000183929 OTTHUMG00000037916 AK092260 NR_002834 PGOHUM00000245243 HGNC:32020 +HGNC:44482 DUSP5P2 dual specificity phosphatase 5 pseudogene 2 pseudogene pseudogene Approved 3p25.3 03p25.3 2012-11-07 2012-11-07 643459 ENSG00000235338 OTTHUMG00000155065 NG_022237 PGOHUM00000237929 HGNC:44482 +HGNC:3072 DUSP6 dual specificity phosphatase 6 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 "MKP-3|PYST1" MAP kinase phosphatases 895 1997-03-19 2016-01-15 1848 ENSG00000139318 OTTHUMG00000169912 uc001tay.5 BC037236 "NM_001946|NM_022652" "CCDS9033|CCDS9034" Q16828 "8626780|9205128" MGI:1914853 RGD:70978 602748 353744 HGNC:3072 "ENST00000279488.8|NM_001946.4" HGNC:3072 +HGNC:3073 DUSP7 dual specificity phosphatase 7 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "MKP-X|PYST2" MAP kinase phosphatases 895 1997-03-19 2016-10-05 1849 ENSG00000164086 OTTHUMG00000157819 uc003dct.4 X93921 NM_001947 CCDS33766 Q16829 "8626780|9205128" MGI:2387100 RGD:735026 602749 HGNC:3073 "ENST00000495880.2|NM_001947.4" +HGNC:3074 DUSP8 dual specificity phosphatase 8 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "HVH-5|HB5|FLJ42958" "serine/threonine specific protein phosphatase|H1 phosphatase, vaccinia virus homolog" C11orf81 chromosome 11 open reading frame 81 MAP kinase phosphatases 895 1997-05-09 2015-09-11 1850 ENSG00000184545 OTTHUMG00000133348 uc001lts.3 NM_004420 CCDS7724 Q13202 "7561881|9192849" MGI:106626 RGD:1306425 602038 HGNC:3074 "ENST00000397374.8|NM_004420.3" +HGNC:3075 DUSP8P1 dual specificity phosphatase 8 pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 HVH4 "DUSP8P|DUSP8P3|DUSPP" "dual specificity phosphatase 8 pseudogene|dual specificity phosphatase 8 pseudogene 3|dual specificity phosphatase pseudogene" 1997-05-09 2013-01-07 2013-01-07 2020-04-20 441554 ENSG00000215065 NG_022176 9192849 PGOHUM00000238780 HGNC:3075 +HGNC:45001 DUSP8P2 dual specificity phosphatase 8 pseudogene 2 pseudogene pseudogene Approved 10q11.22 10q11.22 DUSP8P4 dual specificity phosphatase 8 pseudogene 4 2013-01-07 2020-04-20 728657 OTTHUMG00000018099 NG_022145 PGOHUM00000238464 HGNC:45001 +HGNC:45003 DUSP8P5 dual specificity phosphatase 8 pseudogene 5 pseudogene pseudogene Approved 10q22.2 10q22.2 2013-01-07 2016-02-12 106903081 ENSG00000235316 OTTHUMG00000018485 NG_046333 PGOHUM00000290205 HGNC:45003 +HGNC:3076 DUSP9 dual specificity phosphatase 9 protein-coding gene gene with protein product Approved Xq28 Xq28 "MKP-4|MKP4" map kinase phosphatase 4 MAP kinase phosphatases 895 1998-06-25 2015-09-11 1852 ENSG00000130829 OTTHUMG00000024211 uc004fhx.5 Y08302 NM_001395 CCDS14724 Q99956 "9030581|9286695" MGI:2387107 RGD:1565535 300134 HGNC:3076 "ENST00000342782.4|NM_001318503.2" +HGNC:3065 DUSP10 dual specificity phosphatase 10 protein-coding gene gene with protein product Approved 1q41 01q41 "MKP-5|MKP5" MAP kinase phosphatases 895 1999-11-26 2015-09-11 11221 ENSG00000143507 OTTHUMG00000037269 uc001hmy.3 AB026436 NM_007207 CCDS1528 Q9Y6W6 "10391943|10597297" MGI:1927070 RGD:1310844 608867 HGNC:3065 "ENST00000366899.4|NM_007207.6" +HGNC:3066 DUSP11 dual specificity phosphatase 11 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 PIR1 RNA/RNP complex 1-interacting dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) Atypical dual specificity phosphatases 896 1998-11-06 2015-11-05 2015-11-05 8446 ENSG00000144048 OTTHUMG00000129816 uc002sjp.4 AF023917 NM_003584 CCDS1928 O75319 9685386 MGI:1919352 RGD:1307038 603092 HGNC:3066 +HGNC:3067 DUSP12 dual specificity phosphatase 12 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "YVH1|DUSP1" "serine/threonine specific protein phosphatase|YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog" Atypical dual specificity phosphatases 896 2000-01-31 2016-10-05 11266 ENSG00000081721 OTTHUMG00000034540 uc001gbo.4 AF119226 NM_007240 CCDS1234 Q9UNI6 10446167 MGI:1890614 RGD:68375 604835 HGNC:3067 "ENST00000367943.5|NM_007240.3" +HGNC:49059 DUSP12P1 dual specificity phosphatase 12 pseudogene 1 pseudogene pseudogene Approved 3q12.1 03q12.1 2013-08-19 2015-09-21 100420473 ENSG00000277000 OTTHUMG00000187563 NG_025604 PGOHUM00000299104 HGNC:49059 +HGNC:19681 DUSP13 dual specificity phosphatase 13 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "BEDP|TMDP|FLJ32450|DUSP13A|DUSP13B" Atypical dual specificity phosphatases 896 2002-11-11 2016-10-05 51207 ENSG00000079393 OTTHUMG00000018516 uc057ufm.1 AB027004 NM_001007271 "CCDS53542|CCDS31224|CCDS86105|CCDS7346" "Q6B8I1|Q9UII6" 10585869 MGI:1351599 RGD:1359712 613191 HGNC:19681 "ENST00000478873.7|NM_001363514.2" +HGNC:17007 DUSP14 dual specificity phosphatase 14 protein-coding gene gene with protein product Approved 17q12 17q12 "MKP-L|MKP6" MKP-1 like protein tyrosine phosphatase Atypical dual specificity phosphatases 896 2002-01-09 2015-02-02 11072 ENSG00000276023 OTTHUMG00000188472 uc032gia.2 AF038844 NM_007026 CCDS11320 O95147 11123293 MGI:1927168 RGD:1307415 606618 HGNC:17007 "ENST00000617516.5|NM_007026.4" +HGNC:16236 DUSP15 dual specificity phosphatase 15 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "bA243J16.6|VHY|FLJ20645|bA243J16.5" C20orf57 "dual specificity phosphatase-like 15|chromosome 20 open reading frame 57" Atypical dual specificity phosphatases 896 2001-07-17 2005-03-09 2015-10-19 128853 ENSG00000149599 OTTHUMG00000032182 uc002wwx.2 NM_080611 "CCDS42862|CCDS82607|CCDS82606|CCDS13193" Q9H1R2 15138252 MGI:1934928 RGD:1305990 616776 HGNC:16236 "ENST00000339738.10|NM_080611.5" +HGNC:17909 DUSP16 dual specificity phosphatase 16 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "MKP-7|KIAA1700|MKP7" MAPK phosphatase-7 MAP kinase phosphatases 895 2002-08-20 2016-10-05 80824 ENSG00000111266 OTTHUMG00000168582 uc001rao.3 AB052156 NM_030640 CCDS8650 Q9BY84 "11359773|11489891|15888437" MGI:1917936 RGD:1310721 607175 HGNC:17909 "ENST00000298573.9|NM_030640.3" +HGNC:18484 DUSP18 dual specificity phosphatase 18 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 DUSP20 Atypical dual specificity phosphatases 896 2003-02-14 2016-10-24 150290 ENSG00000167065 OTTHUMG00000151115 uc021wnv.2 AF461689 NM_001304794 "CCDS77667|CCDS13883" Q8NEJ0 12408986 MGI:1922469 RGD:1306929 611446 HGNC:18484 "ENST00000334679.4|NM_152511.5" +HGNC:18894 DUSP19 dual specificity phosphatase 19 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "SKRP1|DUSP17" Atypical dual specificity phosphatases 896 2002-11-11 2014-11-18 142679 ENSG00000162999 OTTHUMG00000132622 uc002upd.4 AB038770 NM_001142314 "CCDS2289|CCDS46469" Q8WTR2 MGI:1915332 RGD:1307457 611437 HGNC:18894 "ENST00000354221.5|NM_080876.4" +HGNC:20476 DUSP21 dual specificity phosphatase 21 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 Atypical dual specificity phosphatases 896 2003-02-17 2020-04-02 63904 ENSG00000189037 OTTHUMG00000021401 uc004dgd.4 AF143321 NM_022076 CCDS14264 Q9H596 12408986 MGI:1920797 RGD:1560427 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DUSP21 300678 HGNC:20476 "ENST00000339042.6|NM_022076.4" +HGNC:16077 DUSP22 dual specificity phosphatase 22 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 "MKPX|JSP1|JKAP|VHX" Atypical dual specificity phosphatases 896 2003-05-19 2015-09-11 56940 ENSG00000112679 OTTHUMG00000014113 uc003msy.3 AF165519 NM_020185 "CCDS69035|CCDS4468" Q9NRW4 "9205128|11717427" MGI:1915926 RGD:1307146 616778 HGNC:16077 "ENST00000419235.7|NM_001286555.3" +HGNC:21480 DUSP23 dual specificity phosphatase 23 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "FLJ20442|DUSP25" Atypical dual specificity phosphatases 896 2004-06-10 2016-10-05 54935 ENSG00000158716 OTTHUMG00000022795 uc001fua.2 NM_017823 CCDS1187 Q9BVJ7 15147733 MGI:1915690 RGD:1309202 618361 HGNC:21480 "ENST00000368107.2|NM_001319658.2" +HGNC:28161 DUSP26 dual specificity phosphatase 26 protein-coding gene gene with protein product Approved 8p12 08p12 "MGC1136|DUSP24|NEAP" neuroendocrine-associated phosphatase dual specificity phosphatase 26 (putative) Atypical dual specificity phosphatases 896 2005-03-09 2016-12-02 2020-04-16 78986 ENSG00000133878 OTTHUMG00000163961 uc003xjp.4 AY902194 NM_024025 CCDS6092 Q9BV47 "15796912|20562916|28701747" MGI:1914209 RGD:1310090 618368 HGNC:28161 "ENST00000256261.9|NM_024025.3" +HGNC:33237 DUSP28 dual specificity phosphatase 28 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "VHP|DUSP26" Atypical dual specificity phosphatases 896 2007-01-04 2016-10-05 285193 ENSG00000188542 OTTHUMG00000152310 uc002vzg.3 BC036198 NM_001033575 CCDS33418 Q4G0W2 MGI:1914696 RGD:1595220 HGNC:33237 "ENST00000405954.2|NM_001370465.2" +HGNC:23481 DUSP29 dual specificity phosphatase 29 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 DUSP27 DUPD1 dual specificity phosphatase and pro isomerase domain containing 1 Atypical dual specificity phosphatases 896 2003-11-19 2020-06-01 2020-06-01 2020-06-04 338599 ENSG00000188716 OTTHUMG00000018512 uc001jwq.1 NM_001003892 CCDS31223 Q68J44 MGI:3647127 RGD:1310229 618574 HGNC:23481 "ENST00000338487.6|NM_001003892.3" +HGNC:3078 DUT deoxyuridine triphosphatase protein-coding gene gene with protein product Approved 15q21.1 15q21.1 dUTPase dUTP diphosphatase dUTP pyrophosphatase 1995-09-28 2007-12-17 2015-08-25 1854 ENSG00000128951 OTTHUMG00000172155 uc001zww.4 M89913 NM_001025248 "CCDS45256|CCDS81879|CCDS32231|CCDS45255" P33316 "1325640|9070952" MGI:1346051 RGD:620849 601266 3.6.1.23 HGNC:3078 "ENST00000331200.8|NM_001025248.2" +HGNC:55420 DUT-AS1 DUT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 Antisense RNAs 1987 2021-01-07 2021-01-07 107984757 ENSG00000259488 +HGNC:31956 DUTP1 deoxyuridine triphosphatase pseudogene 1 pseudogene pseudogene Approved 3q21.2 03q21.2 DUTL "dUTP pyrophosphatase-like|deoxyuridine triphosphatase-like" 2005-04-11 2011-02-09 2011-02-09 2014-11-19 548637 ENSG00000229048 OTTHUMG00000159443 AF090907 NG_028739 PGOHUM00000238159 HGNC:31956 +HGNC:39515 DUTP2 deoxyuridine triphosphatase pseudogene 2 pseudogene pseudogene Approved 8q24.13 08q24.13 2011-02-11 2014-11-18 100873909 ENSG00000254388 OTTHUMG00000165091 NG_032312 PGOHUM00000249790 HGNC:39515 +HGNC:39516 DUTP3 deoxyuridine triphosphatase pseudogene 3 pseudogene pseudogene Approved 7q35 07q35 2011-02-11 2014-11-19 100861485 ENSG00000226857 OTTHUMG00000152746 NG_032032 PGOHUM00000233635 HGNC:39516 +HGNC:39517 DUTP4 deoxyuridine triphosphatase pseudogene 4 pseudogene pseudogene Approved Xq28 Xq28 2011-02-11 2014-11-19 100873910 ENSG00000229829 OTTHUMG00000022632 NG_032313 PGOHUM00000242075 HGNC:39517 +HGNC:39518 DUTP5 deoxyuridine triphosphatase pseudogene 5 pseudogene pseudogene Approved 6q14.3 06q14.3 2011-02-11 2012-10-16 100873911 ENSG00000216439 OTTHUMG00000015136 NG_032314 PGOHUM00000262006 HGNC:39518 +HGNC:39519 DUTP6 deoxyuridine triphosphatase pseudogene 6 pseudogene pseudogene Approved 1q24.1 01q24.1 2011-02-11 2014-11-18 100873912 ENSG00000225171 OTTHUMG00000034322 NG_032315 PGOHUM00000245069 HGNC:39519 +HGNC:39520 DUTP7 deoxyuridine triphosphatase pseudogene 7 pseudogene pseudogene Approved 4q12 04q12 2011-02-11 2014-11-18 100873913 ENSG00000250473 OTTHUMG00000160621 NG_032316 PGOHUM00000262001 HGNC:39520 +HGNC:39521 DUTP8 deoxyuridine triphosphatase pseudogene 8 pseudogene pseudogene Approved 4q23 04q23 2011-02-11 2014-11-18 100873914 ENSG00000214904 OTTHUMG00000160959 NG_032317 PGOHUM00000246007 HGNC:39521 +HGNC:3079 DUX1 double homeobox 1 protein-coding gene gene with protein product Approved not on reference assembly not on reference assembly double homeobox, 1 1999-12-01 2010-07-20 2019-07-17 26584 AJ001481 NM_012146 O43812 "9736770|11245978" MGI:1916048 611441 +HGNC:3081 DUX3 double homeobox 3 protein-coding gene gene with protein product Approved not on reference assembly not on reference assembly 1999-12-01 2010-07-20 2019-07-17 26582 AF133130 NM_012148 Q96PT4 11245978 MGI:1916048 611443 +HGNC:50800 DUX4 double homeobox 4 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 2014-06-20 2021-05-26 100288687 ENSG00000260596 OTTHUMG00000175568 NM_001293798 CCDS77990 Q9UBX2 20724583 RGD:1311053 LRG_1075|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1075.xml 606009 476816 HGNC:50800 "ENST00000565211.1|NM_001306068.3" +HGNC:3082 DUX4L1 double homeobox 4 like 1 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 DUX4 "double homeobox 4|double homeobox 4 like 1" PRD class homeoboxes and pseudogenes 521 1999-12-01 2014-06-20 2018-10-24 2021-10-07 22947 ENSG00000280757 OTTHUMG00000161317 uc032uhw.2 D38024 NG_034172 MGI:1916048 9089 121239 PGOHUM00000306581 HGNC:3082 +HGNC:37267 DUX4L2 double homeobox 4 like 2 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 double homeobox 4 like 2 PRD class homeoboxes and pseudogenes 521 2010-07-19 2018-10-24 2021-10-07 728410 ENSG00000280457 OTTHUMG00000161316 NG_034178 P0CJ85 MGI:1916048 9091 PGOHUM00000306583 HGNC:37267 +HGNC:38688 DUX4L3 double homeobox 4 like 3 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 double homeobox 4 like 3 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2018-10-24 653548 ENSG00000281627 OTTHUMG00000161319 NG_034177 P0CJ86 9090 PGOHUM00000306582 HGNC:38688 +HGNC:38686 DUX4L4 double homeobox 4 like 4 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 double homeobox 4 like 4 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2021-10-07 441056 ENSG00000258834 OTTHUMG00000161318 NG_034176 P0CJ87 MGI:1916048 9088 PGOHUM00000306580 HGNC:38686 +HGNC:38689 DUX4L5 double homeobox 4 like 5 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 double homeobox 4 like 5 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2021-10-07 653545 ENSG00000280799 OTTHUMG00000161315 NG_034191 P0CJ88 9087 PGOHUM00000306579 HGNC:38689 +HGNC:37265 DUX4L6 double homeobox 4 like 6 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 double homeobox 4 like 6 PRD class homeoboxes and pseudogenes 521 2010-07-19 2018-10-24 2021-10-07 653544 ENSG00000281058 OTTHUMG00000161313 NG_034175 P0CJ89 9086 PGOHUM00000306578 HGNC:37265 +HGNC:37266 DUX4L7 double homeobox 4 like 7 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 double homeobox 4 like 7 PRD class homeoboxes and pseudogenes 521 2010-07-19 2018-10-24 2021-10-07 653543 ENSG00000281652 OTTHUMG00000161314 NG_034174 P0CJ90 9085 PGOHUM00000306577 HGNC:37266 +HGNC:38670 DUX4L8 double homeobox 4 like 8 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 DUX2 "double homeobox 2|double homeobox, 2|double homeobox 4 like 8 (pseudogene)|double homeobox 4 like 8" PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2020-04-20 26583 ENSG00000281720 OTTHUMG00000161320 NR_033487 611442 PGOHUM00000300102 HGNC:38670 +HGNC:33855 DUX4L9 double homeobox 4 like 9 (pseudogene) pseudogene pseudogene Approved 4q35.2 04q35.2 double homeobox 4 like 9 PRD class homeoboxes and pseudogenes 521 2010-07-19 2018-10-24 2020-04-20 100288711 ENSG00000224807 OTTHUMG00000161003 NG_027951 Q6RFH8 MGI:1916048 615581 PGOHUM00000306055 HGNC:33855 +HGNC:31354 DUX4L10 double homeobox 4 like 10 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 DUX10 double homeobox 4 like 10 PRD class homeoboxes and pseudogenes 521 2010-07-19 2018-10-24 2018-10-24 440013 ENSG00000278664 OTTHUMG00000019332 AY044051 NG_012775 9092 PGOHUM00000290029 HGNC:31354 +HGNC:38687 DUX4L11 double homeobox 4 like 11 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 11 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2018-10-24 399839 ENSG00000278761 OTTHUMG00000170701 NG_012779 9093 PGOHUM00000290030 HGNC:38687 +HGNC:38671 DUX4L12 double homeobox 4 like 12 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 12 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2018-10-24 440014 ENSG00000278790 OTTHUMG00000185266 NG_012776 9094 PGOHUM00000290031 HGNC:38671 +HGNC:38672 DUX4L13 double homeobox 4 like 13 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 13 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2018-10-24 100289581 ENSG00000276046 OTTHUMG00000019335 NG_012773 9095 PGOHUM00000290032 HGNC:38672 +HGNC:38673 DUX4L14 double homeobox 4 like 14 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 14 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2018-10-24 728022 ENSG00000276904 OTTHUMG00000019334 NG_012778 9096 PGOHUM00000290033 HGNC:38673 +HGNC:38674 DUX4L15 double homeobox 4 like 15 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 15 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2018-10-24 440017 ENSG00000278641 OTTHUMG00000019336 NG_012777 9097 PGOHUM00000290034 HGNC:38674 +HGNC:37719 DUX4L16 double homeobox 4 like 16 (pseudogene) pseudogene pseudogene Approved Yq11.21 Yq11.21 DUXY1 double homeobox 4 like 16 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2018-10-24 728169 ENSG00000258567 OTTHUMG00000170710 NG_021937 15653831 9527 PGOHUM00000306228 HGNC:37719 +HGNC:37717 DUX4L17 double homeobox 4 like 17 (pseudogene) pseudogene pseudogene Approved Yq11.21 Yq11.21 DUXY3 double homeobox 4 like 17 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2018-10-24 643001 ENSG00000259154 OTTHUMG00000170711 NG_028177 15653831 9528 PGOHUM00000305642 HGNC:37717 +HGNC:37716 DUX4L18 double homeobox 4 like 18 (pseudogene) pseudogene pseudogene Approved Yq11.21 Yq11.21 DUXY2 double homeobox 4 like 18 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2018-10-24 100132421 ENSG00000259029 OTTHUMG00000170712 NG_029032 15653831 9529 PGOHUM00000305643 HGNC:37716 +HGNC:37718 DUX4L19 double homeobox 4 like 19 (pseudogene) pseudogene pseudogene Approved Yq11.21 Yq11.21 DUXY4 double homeobox 4 like 19 PRD class homeoboxes and pseudogenes 521 2010-07-20 2018-10-24 2018-10-24 643034 ENSG00000258991 OTTHUMG00000170713 NG_029033 15653831 9530 PGOHUM00000305644 HGNC:37718 +HGNC:50801 DUX4L20 double homeobox 4 like 20 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 20 PRD class homeoboxes and pseudogenes 521 2014-06-23 2018-10-24 2018-10-24 102723538 ENSG00000276164 OTTHUMG00000189297 NG_034165 PGOHUM00000305855 HGNC:50801 +HGNC:50802 DUX4L21 double homeobox 4 like 21 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 21 PRD class homeoboxes and pseudogenes 521 2014-06-23 2018-10-24 2018-10-24 102723518 ENSG00000275610 OTTHUMG00000189296 NG_034166 PGOHUM00000305854 HGNC:50802 +HGNC:50803 DUX4L22 double homeobox 4 like 22 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 22 PRD class homeoboxes and pseudogenes 521 2014-06-23 2018-10-24 2018-10-24 102723495 ENSG00000277274 OTTHUMG00000189295 NG_034167 PGOHUM00000305853 HGNC:50803 +HGNC:50804 DUX4L23 double homeobox 4 like 23 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 23 PRD class homeoboxes and pseudogenes 521 2014-06-23 2018-10-24 2018-10-24 102723472 ENSG00000276964 OTTHUMG00000189294 NG_034168 PGOHUM00000305852 HGNC:50804 +HGNC:50805 DUX4L24 double homeobox 4 like 24 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 24 PRD class homeoboxes and pseudogenes 521 2014-06-23 2018-10-24 2018-10-24 102723449 ENSG00000274599 OTTHUMG00000189293 NG_034169 PGOHUM00000305851 HGNC:50805 +HGNC:50806 DUX4L25 double homeobox 4 like 25 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 25 PRD class homeoboxes and pseudogenes 521 2014-06-23 2018-10-24 2018-10-24 102723423 ENSG00000280337 OTTHUMG00000189292 NG_034170 PGOHUM00000305850 HGNC:50806 +HGNC:50807 DUX4L26 double homeobox 4 like 26 (pseudogene) pseudogene pseudogene Approved 3p12.3 03p12.3 double homeobox 4 like 26 PRD class homeoboxes and pseudogenes 521 2014-06-23 2018-10-24 2018-10-24 100996350 ENSG00000236138 OTTHUMG00000158962 NG_034171 PGOHUM00000306043 HGNC:50807 +HGNC:50808 DUX4L27 double homeobox 4 like 27 (pseudogene) pseudogene pseudogene Approved 12p11.1 12p11.1 double homeobox 4 like 27 PRD class homeoboxes and pseudogenes 521 2014-06-23 2018-10-24 2018-10-24 100131369 ENSG00000258794 OTTHUMG00000170996 NG_021684 PGOHUM00000291293 HGNC:50808 +HGNC:51605 DUX4L28 double homeobox 4 like 28 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 28 PRD class homeoboxes and pseudogenes 521 2015-03-16 2018-10-24 2018-10-24 106481728 ENSG00000279626 OTTHUMG00000189291 NG_043443 PGOHUM00000290324 HGNC:51605 +HGNC:51606 DUX4L29 double homeobox 4 like 29 (pseudogene) pseudogene pseudogene Approved 10q26.3 10q26.3 double homeobox 4 like 29 PRD class homeoboxes and pseudogenes 521 2015-03-16 2018-10-24 2018-10-24 106481970 ENSG00000237635 OTTHUMG00000019339 NG_043333 PGOHUM00000290326 HGNC:51606 +HGNC:51770 DUX4L31 double homeobox 4 like 31 (pseudogene) pseudogene pseudogene Approved Yp11.2 Yp11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-03-10 100887073 ENSG00000231411 OTTHUMG00000041619 NG_032747 PGOHUM00000305463 HGNC:51770 +HGNC:51771 DUX4L32 double homeobox 4 like 32 (pseudogene) pseudogene pseudogene Approved 20q11.1 20q11.1 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-10-25 107075316 ENSG00000283069 OTTHUMG00000191528 NG_046375 PGOHUM00000297085 HGNC:51771 +HGNC:51789 DUX4L33 double homeobox 4 like 33 (pseudogene) pseudogene pseudogene Approved 20q11.1 20q11.1 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2016-11-09 107080551 ENSG00000282894 OTTHUMG00000191530 NG_046379 HGNC:51789 +HGNC:51772 DUX4L34 double homeobox 4 like 34 (pseudogene) pseudogene pseudogene Approved 20q11.1 20q11.1 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-10-25 105379479 ENSG00000282935 OTTHUMG00000191523 PGOHUM00000305983 HGNC:51772 +HGNC:51773 DUX4L35 double homeobox 4 like 35 (pseudogene) pseudogene pseudogene Approved 20q11.1 20q11.1 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-10-25 106632270 ENSG00000282911 OTTHUMG00000191527 NG_042876 PGOHUM00000296945 HGNC:51773 +HGNC:51774 DUX4L36 double homeobox 4 like 36 (pseudogene) pseudogene pseudogene Approved 20q11.1 20q11.1 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2020-04-06 107080642 NG_046557 PGOHUM00000305988 HGNC:51774 +HGNC:51775 DUX4L37 double homeobox 4 like 37 (pseudogene) pseudogene pseudogene Approved 20q11.1 20q11.1 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-10-25 107080108 ENSG00000283020 OTTHUMG00000191535 NG_046377 PGOHUM00000306554 HGNC:51775 +HGNC:51776 DUX4L38 double homeobox 4 like 38 (pseudogene) pseudogene pseudogene Approved 20q11.21 20q11.21 2015-05-19 2016-01-06 2017-03-10 107080648 NG_046560 PGOHUM00000296962 HGNC:51776 +HGNC:51777 DUX4L39 double homeobox 4 like 39 (pseudogene) pseudogene pseudogene Approved 20q11.21 20q11.21 2015-05-19 2016-01-06 2020-04-06 107080645 NG_046558 PGOHUM00000305986 HGNC:51777 +HGNC:51778 DUX4L40 double homeobox 4 like 40 (pseudogene) pseudogene pseudogene Approved 22p11.2 22p11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2020-04-06 107080649 NG_046562 PGOHUM00000306011 HGNC:51778 +HGNC:51779 DUX4L41 double homeobox 4 like 41 (pseudogene) pseudogene pseudogene Approved 22p11.2 22p11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2020-04-06 107080650 NG_046563 PGOHUM00000306012 HGNC:51779 +HGNC:51780 DUX4L42 double homeobox 4 like 42 (pseudogene) pseudogene pseudogene Approved 22p11.2 22p11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-03-10 106660607 NG_042896 PGOHUM00000306004 HGNC:51780 +HGNC:51781 DUX4L43 double homeobox 4 like 43 (pseudogene) pseudogene pseudogene Approved 22p11.2 22p11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-03-10 106660617 NG_044940 PGOHUM00000297401 HGNC:51781 +HGNC:51782 DUX4L44 double homeobox 4 like 44 (pseudogene) pseudogene pseudogene Approved 22p11.2 22p11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2020-04-06 107080651 NG_046564 PGOHUM00000297409 HGNC:51782 +HGNC:51783 DUX4L45 double homeobox 4 like 45 (pseudogene) pseudogene pseudogene Approved 16p11.2 16p11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-03-10 100887074 ENSG00000261440 OTTHUMG00000176375 NG_032744 PGOHUM00000306536 HGNC:51783 +HGNC:51784 DUX4L46 double homeobox 4 like 46 (pseudogene) pseudogene pseudogene Approved 16p11.2 16p11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-03-10 106480349 ENSG00000259987 OTTHUMG00000176377 NG_044654 PGOHUM00000305914 HGNC:51784 +HGNC:51785 DUX4L47 double homeobox 4 like 47 (pseudogene) pseudogene pseudogene Approved 16p11.2 16p11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-03-10 106481738 ENSG00000260207 OTTHUMG00000176378 NG_043519 PGOHUM00000293825 HGNC:51785 +HGNC:51786 DUX4L48 double homeobox 4 like 48 (pseudogene) pseudogene pseudogene Approved 14p11.2 14p11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-03-10 107105251 NG_046569 PGOHUM00000305891 HGNC:51786 +HGNC:51787 DUX4L49 double homeobox 4 like 49 (pseudogene) pseudogene pseudogene Approved 14p11.2 14p11.2 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2020-04-06 107105252 NG_046570 PGOHUM00000305892 HGNC:51787 +HGNC:51788 DUX4L50 double homeobox 4 like 50 (pseudogene) pseudogene pseudogene Approved 9q13 09q13 PRD class homeoboxes and pseudogenes 521 2015-05-19 2016-01-06 2017-03-10 106480350 ENSG00000232815 OTTHUMG00000058675 NG_044663 PGOHUM00000303875 HGNC:51788 +HGNC:51810 DUX4L51 double homeobox 4 like 51 (pseudogene) pseudogene pseudogene Approved 5p13.3 05p13.3 PRD class homeoboxes and pseudogenes 521 2015-06-11 2016-01-06 2016-01-06 106481740 ENSG00000250482 OTTHUMG00000161975 NG_045485 PGOHUM00000300910 HGNC:51810 +HGNC:51811 DUX4L52 double homeobox 4 like 52 (pseudogene) pseudogene pseudogene Approved 12q14.1 12q14.1 PRD class homeoboxes and pseudogenes 521 2015-06-11 2016-01-06 2016-01-06 106480354 ENSG00000258336 OTTHUMG00000169973 NG_044691 PGOHUM00000291373 HGNC:51811 +HGNC:3083 DUX5 double homeobox 5 protein-coding gene gene with protein product Approved not on reference assembly not on reference assembly 1999-12-01 2010-07-20 2019-07-17 26581 AF133131 NM_012149 Q96PT3 11245978 MGI:1916048 611444 +HGNC:32179 DUXA double homeobox A protein-coding gene gene with protein product Approved 19q13.43 19q13.43 PRD class homeoboxes and pseudogenes 521 2005-08-08 2015-08-27 503835 ENSG00000258873 OTTHUMG00000170714 uc002qoa.2 NM_001012729 CCDS33126 A6NLW8 611168 8530 HGNC:32179 "ENST00000554048.3|NM_001012729.2" +HGNC:32180 DUXAP1 double homeobox A pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 PRD class homeoboxes and pseudogenes 521 2005-08-08 2015-03-11 503630 ENSG00000259056 OTTHUMG00000170724 NG_004841 8364 PGOHUM00000298491 HGNC:32180 +HGNC:32181 DUXAP2 double homeobox A pseudogene 2 pseudogene pseudogene Approved 8q22.3 08q22.3 PRD class homeoboxes and pseudogenes 521 2005-08-08 2015-03-11 503631 ENSG00000254063 OTTHUMG00000164830 NG_004842 8365 PGOHUM00000303332 HGNC:32181 +HGNC:32182 DUXAP3 double homeobox A pseudogene 3 pseudogene pseudogene Approved 10q11.21 10q11.21 PRD class homeoboxes and pseudogenes 521 2005-08-08 2015-03-11 503632 ENSG00000270552 OTTHUMG00000184626 NR_002220 8366 PGOHUM00000289821 HGNC:32182 +HGNC:32183 DUXAP4 double homeobox A pseudogene 4 pseudogene pseudogene Approved 10q11.21 10q11.21 PRD class homeoboxes and pseudogenes 521 2005-08-08 2015-03-11 503633 ENSG00000270258 OTTHUMG00000184653 NG_004843 8367 PGOHUM00000290134 HGNC:32183 +HGNC:32184 DUXAP5 double homeobox A pseudogene 5 pseudogene pseudogene Approved 11q23.3 11q23.3 PRD class homeoboxes and pseudogenes 521 2005-08-08 2015-03-11 503634 ENSG00000255377 OTTHUMG00000166203 NG_004844 8368 PGOHUM00000290724 HGNC:32184 +HGNC:32185 DUXAP6 double homeobox A pseudogene 6 pseudogene pseudogene Approved 15q26.1 15q26.1 PRD class homeoboxes and pseudogenes 521 2005-08-08 2015-03-11 503635 ENSG00000258726 OTTHUMG00000171701 NG_004845 8369 PGOHUM00000293360 HGNC:32185 +HGNC:32186 DUXAP7 double homeobox A pseudogene 7 pseudogene pseudogene Approved 20p11.23 20p11.23 PRD class homeoboxes and pseudogenes 521 2005-08-08 2015-03-11 503636 ENSG00000232136 OTTHUMG00000031979 NG_004846 8370 PGOHUM00000296912 HGNC:32186 +HGNC:32187 DUXAP8 double homeobox A pseudogene 8 pseudogene pseudogene Approved 22q11.1 22q11.1 PRD class homeoboxes and pseudogenes 521 2005-08-08 2017-09-21 503637 ENSG00000271672 OTTHUMG00000140194 uc002zks.5 NR_122113 28881724 8371 PGOHUM00000297600 HGNC:32187 +HGNC:32188 DUXAP9 double homeobox A pseudogene 9 pseudogene pseudogene Approved 14q11.2 14q11.2 "FLJ39632|lncRNA-CTD903|LNMAT1" Lymph Node Metastasis Associated Transcript 1 LINC01296 long intergenic non-protein coding RNA 1296 PRD class homeoboxes and pseudogenes 521 2005-08-08 2020-05-28 503638 ENSG00000225210 OTTHUMG00000188246 NG_004839 "27035092|30237493" 8372 PGOHUM00000292548 HGNC:32188 +HGNC:32189 DUXAP10 double homeobox A pseudogene 10 pseudogene pseudogene Approved 14q11.2 14q11.2 PRD class homeoboxes and pseudogenes 521 2005-08-08 2017-08-09 503639 OTTHUMG00000170430 NG_004838 28779166 8373 PGOHUM00000292272 HGNC:32189 +HGNC:51812 DUXAP11 double homeobox A pseudogene 11 pseudogene pseudogene Approved 16q21 16q21 2015-06-11 2015-06-11 106481741 ENSG00000270222 OTTHUMG00000184807 NG_043545 PGOHUM00000293885 HGNC:51812 +HGNC:51813 DUXAP12 double homeobox A pseudogene 12 pseudogene pseudogene Approved 14q24.2 14q24.2 2015-06-11 2015-06-11 100419081 NG_027290 PGOHUM00000292397 HGNC:51813 +HGNC:33345 DUXB double homeobox B protein-coding gene gene with protein product Approved 16q23.1 16q23.1 PRD class homeoboxes and pseudogenes 521 2007-02-15 2019-06-20 100033411 ENSG00000282757 OTTHUMG00000191435 NM_001351307 CCDS86542 A0A1W2PPF3 "17005330|17668377" 618698 8580 HGNC:33345 "ENST00000633875.4|NM_001351307.2" +HGNC:3084 DVL1 dishevelled segment polarity protein 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "dishevelled 1 (homologous to Drosophila dsh)|dishevelled, dsh homolog 1 (Drosophila)" "Dishevelled segment polarity proteins|PDZ domain containing|MicroRNA protein coding host genes" "505|1220|1691" 1996-03-12 2013-05-22 2021-05-26 1855 ENSG00000107404 OTTHUMG00000003069 uc002quu.4 AF006011 NM_004421 "CCDS22|CCDS81252" O14640 8817329 MGI:94941 RGD:620632 601365 426034 HGNC:3084 "ENST00000378888.10|NM_001330311.2" HGNC:3084 +HGNC:3085 DVL1P1 dishevelled segment polarity protein 1 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 DVL-22 DVL1L1 "dishevelled 1-like 1 (homologous to Drosophila dsh)|dishevelled, dsh homolog 1 (Drosophila)-like 1|dishevelled, dsh homolog 1 (Drosophila) pseudogene 1" 1999-10-29 2013-03-15 2013-05-22 2016-10-05 8215 U46462 NG_009878 P54792 "8644734|10591208" 601225 HGNC:3085 +HGNC:3086 DVL2 dishevelled segment polarity protein 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "dishevelled 2 (homologous to Drosophila dsh)|dishevelled, dsh homolog 2 (Drosophila)" "Dishevelled segment polarity proteins|PDZ domain containing" "505|1220" 1996-03-12 2013-05-22 2015-09-11 1856 ENSG00000004975 OTTHUMG00000102155 uc002gez.2 BC014844 NM_004422 CCDS11091 O14641 8662242 MGI:106613 RGD:1309725 602151 470252 HGNC:3086 "ENST00000005340.10|NM_004422.3" +HGNC:3087 DVL3 dishevelled segment polarity protein 3 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 KIAA0208 "dishevelled 3 (homologous to Drosophila dsh)|dishevelled, dsh homolog 3 (Drosophila)" "Dishevelled segment polarity proteins|PDZ domain containing" "505|1220" 1997-04-21 2013-05-22 2021-05-26 1857 ENSG00000161202 OTTHUMG00000156841 uc003fms.4 D86963 NM_004423 CCDS3253 Q92997 8817329 MGI:108100 RGD:1308834 LRG_1269|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1269.xml 601368 456808 HGNC:3087 "ENST00000313143.9|NM_004423.4" HGNC:3087 +HGNC:2992 DXO decapping exoribonuclease protein-coding gene gene with protein product Approved 6p21.33 06p21.33 DOM3Z "DOM-3 (C. elegans) homolog Z|dom-3 homolog Z (C. elegans)" 1998-07-16 2013-09-11 2013-09-11 2016-10-05 1797 ENSG00000204348 OTTHUMG00000031272 AF059252 NM_001371205 CCDS4732 O77932 "9799600|23523372" MGI:1890444 RGD:1303267 605996 HGNC:2992 "ENST00000337523.10|NM_005510.4" +HGNC:23460 DYDC1 DPY30 domain containing 1 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "bA36D19.5|DPY30D1" 2004-05-27 2016-10-05 143241 ENSG00000170788 OTTHUMG00000018609 uc001kbx.6 BC019250 NM_138812 CCDS7366 Q8WWB3 MGI:1916746 RGD:1588855 615154 HGNC:23460 "ENST00000372202.6|NM_001269053.2" +HGNC:23468 DYDC2 DPY30 domain containing 2 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "bA36D19.6|MGC16186" 2004-05-27 2014-11-19 84332 ENSG00000133665 OTTHUMG00000018610 uc001kbz.4 BC018606 NM_032372 "CCDS7367|CCDS58088" Q96IM9 12477932 MGI:1918450 RGD:1588866 HGNC:23468 "ENST00000256039.3|NM_032372.6" +HGNC:21317 DYM dymeclin protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "FLJ20071|DMC|SMC" "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2005-01-05 2015-08-25 54808 ENSG00000141627 OTTHUMG00000132659 uc002ldi.2 AK000078 NM_017653 CCDS11937 Q7RTS9 MGI:1918480 RGD:1309111 607461 121241 HGNC:21317 "ENST00000675505.1|NM_001353214.3" HGNC:21317 +HGNC:37046 DYM-AS1 DYM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 Antisense RNAs 1987 2021-11-12 2021-11-12 100129878 ENSG00000264269 NR_148999 +HGNC:26808 DYNAP dynactin associated protein protein-coding gene gene with protein product Approved 18q21.2 18q21.2 FLJ39106 C18orf26 chromosome 18 open reading frame 26 2004-05-20 2012-10-24 2012-10-24 2014-11-19 284254 ENSG00000178690 OTTHUMG00000132709 uc002lfq.1 AK096425 NM_173629 CCDS77190 Q8N1N2 20978158 MGI:1922827 RGD:7550710 619421 HGNC:26808 "ENST00000648945.2|NM_173629.3" +HGNC:2961 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "Dnchc1|HL-3|p22|DHC1|CMT2O" "DNECL|DNCL|DNCH1" dynein, cytoplasmic, heavy polypeptide 1 Dynein 1 complex subunits 2028 1995-11-15 2005-11-24 2016-03-02 2021-09-13 1778 ENSG00000197102 OTTHUMG00000171644 uc001yks.3 AB002323 NM_001376 CCDS9966 Q14204 "16260502|8666668" MGI:103147 RGD:2511 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 600112 284237 HGNC:2961 "ENST00000360184.10|NM_001376.5" HGNC:2961 +HGNC:2963 DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 DNCIC1 DNCI1 dynein, cytoplasmic, intermediate polypeptide 1 "WD repeat domain containing|Dynein 1 complex subunits" "362|2028" 1995-11-15 2005-11-24 2016-03-02 2021-09-13 1780 ENSG00000158560 OTTHUMG00000153983 uc003uob.4 AF063228 NM_004411 "CCDS47646|CCDS64719|CCDS5644|CCDS64718|CCDS47645" O14576 "10049579|16260502" MGI:107743 RGD:2512 603772 HGNC:2963 "ENST00000447467.6|NM_001135556.2" +HGNC:2964 DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 DIC74 DNCI2 dynein, cytoplasmic, intermediate polypeptide 2 "WD repeat domain containing|Dynein 1 complex subunits" "362|2028" 1995-11-15 2005-11-24 2016-03-02 2021-09-13 1781 ENSG00000077380 OTTHUMG00000154061 uc002uhb.3 AK055491 NM_001378 "CCDS63054|CCDS63056|CCDS46450|CCDS63057|CCDS82533" Q13409 "10049579|16260502" MGI:107750 RGD:620174 603331 HGNC:2964 "ENST00000397119.8|NM_001378.3" HGNC:2964 +HGNC:45012 DYNC1I2P1 dynein cytoplasmic 1 intermediate chain 2 pseudogene 1 pseudogene pseudogene Approved 10q11.23 10q11.23 2013-01-07 2016-03-02 2016-03-02 728532 ENSG00000225137 OTTHUMG00000018224 NG_022178 PGOHUM00000238794 HGNC:45012 +HGNC:18745 DYNC1LI1 dynein cytoplasmic 1 light intermediate chain 1 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 DNCLI1 dynein, cytoplasmic, light intermediate polypeptide 1 Dynein 1 complex subunits 2028 2002-06-12 2005-11-25 2016-03-02 2021-09-13 51143 ENSG00000144635 OTTHUMG00000130750 uc003cfb.4 AF078849 NM_016141 "CCDS2654|CCDS87058" Q9Y6G9 16260502 MGI:2135610 RGD:71072 615890 HGNC:18745 "ENST00000273130.9|NM_016141.4" +HGNC:2966 DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 DNCLI2 dynein, cytoplasmic, light intermediate polypeptide 2 Dynein 1 complex subunits 2028 1995-11-15 2005-11-25 2016-03-02 2021-09-13 1783 ENSG00000135720 OTTHUMG00000137523 uc002eqb.2 AF035812 NM_006141 "CCDS67049|CCDS10818" O43237 16260502 MGI:107738 RGD:621130 611406 HGNC:2966 "ENST00000258198.7|NM_006141.3" +HGNC:52990 DYNC1LI2-DT DYNC1LI2 divergent transcript non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 Divergent transcripts 1990 2021-04-28 2021-04-28 106699570 ENSG00000246777 OTTHUMG00000173477 NR_133569 +HGNC:2962 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "hdhc11|DHC2|DHC1b|DYH1B" DNCH2 dynein, cytoplasmic, heavy polypeptide 2 Dynein 2 complex subunits 2029 1995-11-15 2005-11-24 2016-03-02 2021-09-13 79659 ENSG00000187240 OTTHUMG00000165941 uc001phn.2 AB082528 NM_001080463 "CCDS53701|CCDS44717" Q8NCM8 "9763680|9373155" MGI:107736 RGD:71042 603297 183938 HGNC:2962 "ENST00000375735.7|NM_001377.3" HGNC:2962 +HGNC:21862 DYNC2I1 dynein 2 intermediate chain 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "FLJ10300|FAP163|CFAP163|DIC6" WDR60 WD repeat domain 60 "WD repeat domain containing|Cilia and flagella associated|Dynein 2 complex subunits" "362|1491|2029" 2005-04-19 2020-05-04 2020-05-04 2021-09-13 55112 ENSG00000126870 OTTHUMG00000151443 uc003woe.5 NM_018051 CCDS47757 Q8WVS4 23910462 MGI:2445085 RGD:1306493 615462 363310 HGNC:21862 "ENST00000407559.8|NM_018051.5" HGNC:21862 +HGNC:28296 DYNC2I2 dynein 2 intermediate chain 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "DIC5|MGC20486|bA216B9.3|FAP133|CFAP133" WDR34 WD repeat domain 34 "WD repeat domain containing|Cilia and flagella associated|Dynein 2 complex subunits" "362|1491|2029" 2004-02-17 2020-05-04 2020-05-04 2021-09-13 89891 ENSG00000119333 OTTHUMG00000020750 uc004bvq.2 BC011874 NM_052844 CCDS6906 Q96EX3 "19521662|21953912|24183451" MGI:1919070 RGD:1359465 613363 371931 HGNC:28296 "ENST00000372715.7|NM_052844.4" HGNC:28296 +HGNC:24595 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 protein-coding gene gene with protein product Approved 2p21 02p21 "D2LIC|LIC3|CGI-60|DKFZP564A033" Dynein 2 complex subunits 2029 2005-11-29 2016-03-02 2021-09-13 51626 ENSG00000138036 OTTHUMG00000128656 uc002rtk.3 NM_016008 "CCDS1813|CCDS46270|CCDS62903" Q8TCX1 "10810093|11907264" MGI:1913996 RGD:1310286 617083 474406 HGNC:24595 "ENST00000260605.12|NM_016008.4" HGNC:24595 +HGNC:15476 DYNLL1 dynein light chain LC8-type 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "hdlc1|DLC1|PIN|LC8|DLC8" DNCL1 dynein, cytoplasmic, light polypeptide 1 "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal outer arm complex subunits|Dyneins, axonemal inner arm I1/f complex subunits" "2028|2029|2031|2032" 2002-12-18 2005-11-25 2016-03-02 2021-09-13 8655 ENSG00000088986 OTTHUMG00000169368 uc001tyj.4 U32944 NM_003746 CCDS9200 P63167 "8628263|8864115|16260502" MGI:1861457 RGD:619866 601562 470202 HGNC:15476 "ENST00000242577.11|NM_003746.3" +HGNC:20723 DYNLL1P1 dynein light chain LC8-type 1 pseudogene 1 pseudogene pseudogene Approved 14q31.1 14q31.1 DNCL1P1 dynein, cytoplasmic, light polypeptide 1 pseudogene 1 2003-03-24 2005-11-25 2016-03-02 2016-03-02 246720 ENSG00000205579 OTTHUMG00000171415 NG_001584 PGOHUM00000261846 HGNC:20723 +HGNC:20724 DYNLL1P2 dynein light chain LC8-type 1 pseudogene 2 pseudogene pseudogene Approved 14q31.1 14q31.1 DNCL1P2 dynein, cytoplasmic, light polypeptide 1 pseudogene 2 2003-03-24 2005-11-25 2016-03-02 2020-04-20 731308 ENSG00000258605 OTTHUMG00000171417 NG_031940 PGOHUM00000248243 HGNC:20724 +HGNC:49654 DYNLL1P3 dynein light chain LC8-type 1 pseudogene 3 pseudogene pseudogene Approved 1p36.13 01p36.13 2014-01-29 2016-03-02 2016-03-02 391012 ENSG00000235282 OTTHUMG00000002435 NG_005104 PGOHUM00000244625 HGNC:49654 +HGNC:49655 DYNLL1P4 dynein light chain LC8-type 1 pseudogene 4 pseudogene pseudogene Approved 12q24.13 12q24.13 2014-01-29 2016-03-02 2016-03-02 100129739 ENSG00000257231 OTTHUMG00000169645 NG_030129 PGOHUM00000239583 HGNC:49655 +HGNC:49656 DYNLL1P5 dynein light chain LC8-type 1 pseudogene 5 pseudogene pseudogene Approved 3q25.2 03q25.2 2014-01-29 2016-03-02 2016-03-02 106480681 ENSG00000242151 OTTHUMG00000159126 NG_043252 PGOHUM00000238237 HGNC:49656 +HGNC:49657 DYNLL1P6 dynein light chain LC8-type 1 pseudogene 6 pseudogene pseudogene Approved 4q23 04q23 2014-01-29 2016-03-02 2016-03-02 100288885 ENSG00000248820 OTTHUMG00000161020 NG_030214 PGOHUM00000245636 HGNC:49657 +HGNC:49658 DYNLL1P7 dynein light chain LC8-type 1 pseudogene 7 pseudogene pseudogene Approved 7q21.11 07q21.11 2014-01-29 2016-03-02 2016-03-02 729630 ENSG00000230614 OTTHUMG00000154586 NG_006625 PGOHUM00000232906 HGNC:49658 +HGNC:24596 DYNLL2 dynein light chain LC8-type 2 protein-coding gene gene with protein product Approved 17q22 17q22 "MGC17810|Dlc2|DNCL1B|RSPH22" radial spoke 22 homolog (Chlamydomonas) "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal outer arm complex subunits|Dyneins, axonemal inner arm I1/f complex subunits" "2028|2029|2031|2032" 2005-11-25 2016-03-02 2021-09-13 140735 ENSG00000264364 OTTHUMG00000178783 uc010wnn.2 AF112997 NM_080677 CCDS11601 Q96FJ2 16260502 MGI:1915347 RGD:619860 608942 HGNC:24596 "ENST00000579991.3|NM_080677.3" +HGNC:52833 DYNLL2-DT DYNLL2 divergent transcript non-coding RNA RNA, long non-coding Approved 17q22 17q22 Divergent transcripts 1990 2020-10-21 2020-10-21 101927666 ENSG00000266290 OTTHUMG00000179240 NR_110809 +HGNC:15468 DYNLRB1 dynein light chain roadblock-type 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "DNLC2A|ROBLD1" roadblock domain containing 1 DNCL2A dynein, cytoplasmic, light polypeptide 2A "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal outer arm complex subunits|Dyneins, axonemal inner arm I1/f complex subunits" "2028|2029|2031|2032" 2001-04-25 2005-11-25 2016-03-02 2021-09-13 83658 ENSG00000125971 OTTHUMG00000032302 uc002xal.5 AF132750 NM_014183 CCDS13235 Q9NP97 "11750132|16260502" MGI:1914318 RGD:619910 607167 HGNC:15468 "ENST00000357156.7|NM_014183.4" +HGNC:15467 DYNLRB2 dynein light chain roadblock-type 2 protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "DNLC2B|ROBLD2" roadblock domain containing 2 DNCL2B dynein, cytoplasmic, light polypeptide 2B "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal outer arm complex subunits|Dyneins, axonemal inner arm I1/f complex subunits" "2028|2029|2031|2032" 2001-04-25 2005-11-25 2016-03-02 2021-09-13 83657 ENSG00000168589 OTTHUMG00000137622 uc002ffo.3 AF125108 NM_130897 "CCDS10929|CCDS76904" Q8TF09 "11750132|16260502" MGI:1922715 RGD:1306930 607168 HGNC:15467 "ENST00000305904.11|NM_130897.3" +HGNC:55405 DYNLRB2-AS1 DYNLRB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 Antisense RNAs 1987 2021-01-06 2021-01-06 102724084 ENSG00000259867 NR_120307 +HGNC:11697 DYNLT1 dynein light chain Tctex-type 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "Tctex-1|TCTEX1" TCTEL1 t-complex-associated-testis-expressed 1-like 1 "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal outer arm complex subunits" "2028|2029|2031" 1996-03-12 2005-11-24 2016-03-02 2021-09-13 6993 ENSG00000146425 OTTHUMG00000015918 uc003qrn.3 D50663 NM_006519 CCDS5257 P63172 "8646886|16260502" "MGI:3807506|MGI:98643|MGI:3807476|MGI:3780996" RGD:620261 601554 HGNC:11697 "ENST00000367089.8|NM_006519.4" +HGNC:11695 DYNLT2 dynein light chain Tctex-type 2 protein-coding gene gene with protein product Approved 6q27 06q27 "TCTEX1D3|TCTEX2|Tctex4" Tctex1 domain containing 3 TCTE3 t-complex-associated-testis-expressed 3 Dyneins, axonemal outer arm complex subunits 2031 1991-11-19 2020-08-27 2020-08-27 2021-09-13 6991 ENSG00000184786 OTTHUMG00000016068 uc003qxe.2 AF519569 NM_174910 CCDS5310 Q8IZS6 "1505969|12584439|11278908" "MGI:98642|MGI:3809205|MGI:3781595" RGD:1310947 186977 HGNC:11695 "ENST00000366774.4|NM_174910.3" +HGNC:28482 DYNLT2B dynein light chain Tctex-type 2B protein-coding gene gene with protein product Approved 3q29 03q29 MGC33212 TCTEX1D2 Tctex1 domain containing 2 "Dynein 2 complex subunits|Dyneins, axonemal inner arm I1/f complex subunits" "2029|2032" 2007-12-17 2020-08-27 2020-08-27 2021-09-13 255758 ENSG00000213123 OTTHUMG00000186382 uc003fwi.4 BC021177 NM_152773 CCDS33929 Q8WW35 25205765 MGI:1913311 RGD:1563597 617353 471204 HGNC:28482 "ENST00000325318.10|NM_152773.5" +HGNC:11694 DYNLT3 dynein light chain Tctex-type 3 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 TCTEX1L TCTE1L t-complex-associated-testis-expressed 1-like "Dynein 1 complex subunits|Dynein 2 complex subunits|Dyneins, axonemal inner arm I1/f complex subunits" "2028|2029|2032" 1994-12-19 2005-11-25 2016-03-02 2021-09-13 6990 ENSG00000165169 OTTHUMG00000033172 uc004dds.4 U02556 NM_006520 CCDS14243 P51808 8004092 MGI:1914367 RGD:1549755 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/DYNLT3 300302 HGNC:11694 "ENST00000378578.9|NM_006520.3" +HGNC:16571 DYNLT3P1 dynein light chain Tctex-type 3 pseudogene 1 pseudogene pseudogene Approved 20p12.1 20p12.1 dJ531H16.2 TCTE1P t-complex-associated-testis-expressed 1 pseudogene 2001-09-17 2009-05-13 2016-03-02 2016-03-02 170554 ENSG00000232241 OTTHUMG00000031939 AC010083 NG_001059 HGNC:16571 +HGNC:37081 DYNLT3P2 dynein light chain Tctex-type 3 pseudogene 2 pseudogene pseudogene Approved 2q14.3 02q14.3 2009-05-13 2016-03-02 2016-03-02 100381215 ENSG00000229758 OTTHUMG00000153544 NG_016784 PGOHUM00000240901 HGNC:37081 +HGNC:32315 DYNLT4 dynein light chain Tctex-type 4 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 novel Tctex-1 family domain-containing protein TCTEX1D4 Tctex1 domain containing 4 2007-12-17 2020-09-18 2020-09-18 2020-09-18 343521 ENSG00000188396 OTTHUMG00000008586 uc057fwn.1 BC092499 NM_001013632 CCDS30699 Q5JR98 23789093 MGI:3045358 RGD:1565942 611713 HGNC:32315 "ENST00000339355.3|NM_001377534.1" +HGNC:26882 DYNLT5 dynein light chain Tctex-type family member 5 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 FLJ40873 TCTEX1D1 Tctex1 domain containing 1 2005-12-01 2020-09-18 2020-10-16 2020-10-16 200132 ENSG00000152760 OTTHUMG00000009162 uc001dcv.4 AK098192 NM_152665 CCDS633 Q8N7M0 MGI:1914594 RGD:1311932 HGNC:26882 "ENST00000282670.7|NM_152665.3" +HGNC:3091 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "DYRK1|DYRK|MNBH" "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A" 1999-01-29 2016-02-12 2021-05-26 1859 ENSG00000157540 OTTHUMG00000086657 uc002ywk.4 U52373 NM_001396 "CCDS42926|CCDS13653|CCDS86987|CCDS42925|CCDS13654" Q13627 9284911 MGI:1330299 RGD:2528 600855 270014 objectId:2009 HGNC:3091 "ENST00000647188.2|NM_001347721.2" HGNC:3091 +HGNC:3092 DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MIRK minibrain-related kinase "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1B" MicroRNA protein coding host genes 1691 1999-01-29 2016-02-12 2021-05-26 9149 ENSG00000105204 OTTHUMG00000182584 uc002omj.3 Y17999 NM_004714 "CCDS12543|CCDS12544|CCDS46075" Q9Y463 9918863 MGI:1330302 RGD:1307223 604556 423021 objectId:2010 2.7.12.1 HGNC:3092 "ENST00000323039.10|NM_004714.3" HGNC:3092 +HGNC:3093 DYRK2 dual specificity tyrosine phosphorylation regulated kinase 2 protein-coding gene gene with protein product Approved 12q15 12q15 "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 2" 1998-10-29 2016-02-12 2016-02-12 8445 ENSG00000127334 OTTHUMG00000169089 uc001str.5 Y09216 NM_003583 "CCDS8979|CCDS8978" Q92630 9748265 MGI:1330301 RGD:1312039 603496 objectId:2011 HGNC:3093 "ENST00000344096.4|NM_006482.3" +HGNC:3094 DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RED|REDK|hYAK3-2" "regulatory erythroid kinase|dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5|protein kinase Dyrk3" "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 3" 1998-10-29 2016-02-12 2016-10-05 8444 ENSG00000143479 OTTHUMG00000036339 uc001hej.4 Y12735 NM_003582 "CCDS30999|CCDS31000" O43781 9748265 MGI:1330300 RGD:1310924 603497 objectId:2012 2.7.12.1 HGNC:3094 "ENST00000367109.8|NM_003582.4" +HGNC:40199 DYRK3-AS1 DYRK3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2019-07-25 2019-07-25 105372876 ENSG00000237605 OTTHUMG00000036345 XR_922480 HGNC:40199 +HGNC:3095 DYRK4 dual specificity tyrosine phosphorylation regulated kinase 4 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4|dual specificity tyrosine-(Y)-phosphorylation regulated kinase 4" 1998-11-11 2016-02-12 2016-02-12 8798 ENSG00000010219 OTTHUMG00000168204 uc001qmx.5 Y09305 NM_001282285 CCDS8530 Q9NR20 9748265 MGI:1330292 RGD:1306800 609181 objectId:2013 HGNC:3095 "ENST00000543431.6|NM_001394779.1" +HGNC:3097 DYSF dysferlin protein-coding gene gene with protein product Approved 2p13.2 02p13.2 FER1L1 fer-1-like family member 1 LGMD2B limb girdle muscular dystrophy 2B (autosomal recessive) Ferlin family 828 1994-03-24 2013-09-12 2021-05-26 8291 ENSG00000135636 OTTHUMG00000129757 uc002sie.4 AF075575 NM_003494 "CCDS46331|CCDS1918|CCDS46332|CCDS46330|CCDS46329|CCDS46328|CCDS46327|CCDS46326|CCDS46325|CCDS46324|CCDS46323" O75923 8320700 MGI:1349385 RGD:1311023 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/DYSF|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=DYSF|LRG_845|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_845.xml" 603009 121246 HGNC:3097 "ENST00000410020.8|NM_001130987.2" HGNC:3097 +HGNC:23279 DYTN dystrotelin protein-coding gene gene with protein product Approved 2q33.3 02q33.3 Zinc fingers ZZ-type 91 2007-01-22 2020-06-18 391475 ENSG00000232125 OTTHUMG00000154729 uc002vbr.1 ABF55377 NM_001093730 CCDS46502 A2CJ06 17233888 MGI:2685061 RGD:2320917 618510 HGNC:23279 "ENST00000452335.2|NM_001093730.1" +HGNC:15858 DZANK1 double zinc ribbon and ankyrin repeat domains 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "FLJ10600|dJ568F9.2|FLJ30892|bA189K21.8|ANKRD64" ankyrin repeat domain 64 "C20orf84|C20orf12" chromosome 20 open reading frame 12 Ankyrin repeat domain containing 403 2001-06-21 2011-10-03 2011-10-03 2015-08-25 55184 ENSG00000089091 OTTHUMG00000031968 uc002wqq.5 AK001462 NM_001099407 CCDS46582 Q9NVP4 MGI:2139080 RGD:1311344 HGNC:15858 +HGNC:20908 DZIP1 DAZ interacting zinc finger protein 1 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "KIAA0996|DZIP" DAZ interacting protein 1 2003-12-09 2013-05-22 2015-08-25 22873 ENSG00000134874 OTTHUMG00000017224 uc058xua.1 AB023213 NM_014934 "CCDS9478|CCDS9477" Q86YF9 MGI:1914311 RGD:1307701 608671 HGNC:20908 "ENST00000376829.7|NM_198968.4" HGNC:20908 +HGNC:26551 DZIP1L DAZ interacting zinc finger protein 1 like protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "FLJ32844|DZIP2" "DAZ interacting protein 1-like|DAZ interacting zinc finger protein 1-like" 2005-02-04 2016-01-26 2019-04-09 199221 ENSG00000158163 OTTHUMG00000159819 uc003erq.4 AK057406 NM_173543 "CCDS54645|CCDS3096" Q8IYY4 "28530676|29487109" MGI:1919757 RGD:1311430 617570 HGNC:26551 "ENST00000327532.7|NM_173543.3" HGNC:26551 +HGNC:30938 DZIP3 DAZ interacting zinc finger protein 3 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "hRUL138|PPP1R66" "human RNA-binding ubiquitin ligase of 138 kDa|protein phosphatase 1, regulatory subunit 66" DAZ interacting protein 3, zinc finger "Ring finger proteins|Protein phosphatase 1 regulatory subunits" "58|694" 2007-08-20 2013-05-22 2014-11-19 9666 ENSG00000198919 OTTHUMG00000159232 uc003dxd.4 AF279370 NM_014648 CCDS2952 Q86Y13 "9734811|12538761" MGI:1917433 RGD:1563278 608672 HGNC:30938 "ENST00000361582.8|NM_014648.4" +HGNC:3113 E2F1 E2F transcription factor 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 RBP3 RBBP3 E2F transcription factors 982 1993-06-29 2016-10-05 1869 ENSG00000101412 OTTHUMG00000032265 uc002wzu.5 NM_005225 CCDS13224 Q01094 8964493 MGI:101941 RGD:728892 189971 HGNC:3113 "ENST00000343380.6|NM_005225.3" +HGNC:3114 E2F2 E2F transcription factor 2 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 E2F-2 E2F transcription factors 982 1994-08-31 2016-10-05 1870 ENSG00000007968 OTTHUMG00000003223 uc001bhe.3 L22846 NM_004091 CCDS236 Q14209 "8246995|8246996" MGI:1096341 RGD:1593939 600426 HGNC:3114 "ENST00000361729.3|NM_004091.4" +HGNC:3115 E2F3 E2F transcription factor 3 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 E2F transcription factors 982 1994-08-31 2016-10-05 1871 ENSG00000112242 OTTHUMG00000016389 uc003nda.3 Y10479 NM_001243076 "CCDS4545|CCDS58999" O00716 8246996 MGI:1096340 RGD:1561600 600427 HGNC:3115 "ENST00000346618.8|NM_001949.5" +HGNC:41329 E2F3-IT1 E2F3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 E2F3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874268 ENSG00000224707 OTTHUMG00000014337 uc063mco.1 NR_046776 E2F3-IT1 +HGNC:3116 E2F3P1 E2F transcription factor 3 pseudogene 1 pseudogene pseudogene Approved 17q12 17q12 1994-08-31 2014-11-28 1872 ENSG00000267046 OTTHUMG00000179902 NG_005634 8246996 PGOHUM00000294398 HGNC:3116 +HGNC:3117 E2F3P2 E2F transcription factor 3 pseudogene 2 pseudogene pseudogene Approved 2q32.3 02q32.3 1994-08-31 2020-04-20 100420003 ENSG00000203435 OTTHUMG00000154439 NG_023648 8246996 PGOHUM00000298271 HGNC:3117 +HGNC:3118 E2F4 E2F transcription factor 4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 E2F-4 E2F transcription factor 4, p107/p130-binding E2F transcription factors 982 1995-02-01 2016-01-18 2016-01-18 1874 ENSG00000205250 OTTHUMG00000172975 uc002erz.4 BC021050 NM_001950 CCDS32464 Q16254 "7958924|7892279" MGI:103012 RGD:2322129 600659 HGNC:3118 "ENST00000379378.8|NM_001950.4" +HGNC:38684 E2F4P1 E2F transcription factor 4 pseudogene 1 pseudogene pseudogene Approved 6p21.2 06p21.2 2010-07-20 2016-01-18 2016-01-18 100131899 ENSG00000231276 OTTHUMG00000014650 NG_022354 PGOHUM00000243616 HGNC:38684 +HGNC:3119 E2F5 E2F transcription factor 5 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 E2F transcription factor 5, p130-binding E2F transcription factors 982 1995-09-06 2016-01-18 2016-01-18 1875 ENSG00000133740 OTTHUMG00000164785 uc003yda.6 X86097 NM_001951 "CCDS47885|CCDS55254|CCDS47886" Q15329 7892279 MGI:105091 RGD:621357 600967 HGNC:3119 "ENST00000416274.7|NM_001951.4" +HGNC:55393 E2F5-DT E2F5 divergent transcript non-coding RNA RNA, long non-coding Approved 8q21.2 08q21.2 Divergent transcripts 1990 2020-12-21 2020-12-21 102723322 ENSG00000260493 NR_134311 +HGNC:3120 E2F6 E2F transcription factor 6 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 E2F-6 E2F transcription factors 982 1998-04-07 2015-08-25 1876 ENSG00000169016 OTTHUMG00000090565 uc002rbh.5 AF041381 NM_001952 "CCDS62859|CCDS62858|CCDS1680" O75461 9501179 MGI:1354159 RGD:631412 602944 HGNC:3120 "ENST00000381525.8|NM_198256.4" +HGNC:51449 E2F6P1 E2F transcription factor 6 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 E2F6 pseudogene 1 2014-11-28 2015-04-07 2015-04-07 386610 ENSG00000234764 OTTHUMG00000150178 NG_003106 PGOHUM00000297629 HGNC:51449 +HGNC:51450 E2F6P2 E2F transcription factor 6 pseudogene 2 pseudogene pseudogene Approved 22q11.21 22q11.21 E2F6 pseudogene 2 2014-11-28 2015-04-07 2015-04-07 376818 ENSG00000224688 OTTHUMG00000150785 NG_003105 PGOHUM00000297475 HGNC:51450 +HGNC:51451 E2F6P3 E2F transcription factor 6 pseudogene 3 pseudogene pseudogene Approved 22q11.21 22q11.21 E2F6 pseudogene 3 2014-11-28 2015-04-07 2015-04-07 100420178 ENSG00000226885 OTTHUMG00000150760 NG_027460 PGOHUM00000297646 HGNC:51451 +HGNC:51452 E2F6P4 E2F transcription factor 6 pseudogene 4 pseudogene pseudogene Approved Xq26.3 Xq26.3 E2F6 pseudogene 4 2014-11-28 2015-04-07 2015-04-07 139542 ENSG00000231513 OTTHUMG00000022502 NG_006865 PGOHUM00000304873 HGNC:51452 +HGNC:23820 E2F7 E2F transcription factor 7 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 E2F transcription factors 982 2003-12-11 2018-11-15 144455 ENSG00000165891 OTTHUMG00000169969 uc001sym.5 BC016658 NM_203394 CCDS9016 Q96AV8 12893818 MGI:1289147 RGD:1310258 612046 HGNC:23820 "ENST00000322886.12|NM_203394.3" +HGNC:24727 E2F8 E2F transcription factor 8 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 FLJ23311 E2F transcription factors 982 2005-09-10 2016-10-05 79733 ENSG00000129173 OTTHUMG00000166102 uc001mpn.6 NM_024680 CCDS7849 A0AVK6 15722552 MGI:1922038 RGD:1308091 612047 HGNC:24727 "ENST00000250024.9|NM_024680.4" +HGNC:3121 E4F1 E4F transcription factor 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 E4F Zinc fingers C2H2-type 28 1996-04-12 2019-08-20 1877 ENSG00000167967 OTTHUMG00000177084 uc002cpm.5 U87269 NM_004424 "CCDS73809|CCDS32370|CCDS73810" Q66K89 "8828041|9530632|9763670" MGI:109530 RGD:1596731 603022 HGNC:3121 "ENST00000301727.9|NM_004424.5" +HGNC:20907 EAF1 ELL associated factor 1 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 2003-09-17 2015-09-11 85403 ENSG00000144597 OTTHUMG00000162544 uc003bzu.4 AF272973 NM_033083 CCDS2626 Q96JC9 11418481 MGI:1921677 RGD:1310057 608315 HGNC:20907 "ENST00000396842.7|NM_033083.7" +HGNC:42328 EAF1-AS1 EAF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 EAF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-10 2012-08-15 2014-11-19 100873956 ENSG00000249786 OTTHUMG00000129858 uc062hcx.1 EAF1-AS1 +HGNC:23115 EAF2 ELL associated factor 2 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "BM040|TRAITS|U19" 2003-09-17 2016-10-05 55840 ENSG00000145088 OTTHUMG00000159424 uc003een.4 AF517829 NM_018456 CCDS3006 Q96CJ1 "12446457|12907652" MGI:2146616 RGD:628879 607659 HGNC:23115 "ENST00000273668.7|NM_018456.6" +HGNC:19312 EAPP E2F associated phosphoprotein protein-coding gene gene with protein product Approved 14q13.1 14q13.1 "BM036|FLJ20578" C14orf11 chromosome 14 open reading frame 11 2002-11-18 2007-03-26 2016-02-26 2016-02-26 55837 ENSG00000129518 OTTHUMG00000170621 uc001wsd.2 AF217512 NM_018453 CCDS41941 Q56P03 15716352 MGI:1913516 RGD:1309624 609486 HGNC:19312 "ENST00000250454.8|NM_018453.4" +HGNC:29419 EARS2 glutamyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "KIAA1970|MSE1|mtGlnRS" glutamate tRNA ligase 2, mitochondrial glutamyl-tRNA synthetase 2, mitochondrial (putative) Aminoacyl tRNA synthetases, Class I 131 2006-04-04 2012-10-26 2021-05-26 124454 ENSG00000103356 OTTHUMG00000177018 uc002dlt.5 AB075850 NM_133451 "CCDS76844|CCDS42132" Q5JPH6 "15779907|19805282|22492562" MGI:1914667 RGD:1307904 612799 317719 6.1.1.17 HGNC:29419 "ENST00000449606.7|NM_001083614.2" HGNC:29419 +HGNC:3123 EBAG9 estrogen receptor binding site associated antigen 9 protein-coding gene gene with protein product Approved 8q23.2 08q23.2 "EB9|RCAS1" 2000-03-30 2019-01-21 2019-01-21 9166 ENSG00000147654 OTTHUMG00000165346 uc003yng.5 AB007619 NM_004215 CCDS6313 O00559 MGI:1859920 RGD:1307293 605772 HGNC:3123 "ENST00000337573.10|NM_004215.5" +HGNC:45233 EBAG9P1 EBAG9 pseudogene 1 pseudogene pseudogene Approved 10q24.2 10q24.2 estrogen receptor binding site associated, antigen, 9 pseudogene 1 2013-03-07 2019-01-21 2019-01-21 100422254 ENSG00000233690 OTTHUMG00000018890 NG_025459 PGOHUM00000257784 HGNC:45233 +HGNC:3126 EBF1 EBF transcription factor 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "OLF1|COE1" EBF "early B-cell factor|early B cell factor 1" "Early B-cell factors|IPT domain containing" "1646|1752" 1995-11-23 2006-09-26 2018-09-21 2018-09-21 1879 ENSG00000164330 OTTHUMG00000130304 uc010jip.4 AF208502 NM_024007 "CCDS78081|CCDS4343" Q9UH73 "8012110|10942392" MGI:95275 RGD:620953 EBF1 164343 HGNC:3126 "ENST00000313708.11|NM_024007.5" +HGNC:19090 EBF2 EBF transcription factor 2 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "FLJ11500|COE2" Collier, Olf and EBF transcription factor 2 early B cell factor 2 "Early B-cell factors|IPT domain containing" "1646|1752" 2002-08-09 2018-09-21 2018-09-21 64641 ENSG00000221818 OTTHUMG00000163838 uc003xes.3 "AK021562|AK001144" NM_022659 CCDS43726 Q9HAK2 9151732 MGI:894332 RGD:1310805 609934 HGNC:19090 "ENST00000520164.6|NM_022659.4" +HGNC:19087 EBF3 EBF transcription factor 3 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "COE3|DKFZp667B0210" Transcription factor COE3 early B cell factor 3 "Early B-cell factors|MicroRNA protein coding host genes|IPT domain containing" "1646|1691|1752" 2002-11-11 2018-09-21 2021-05-26 253738 ENSG00000108001 OTTHUMG00000019265 uc001lki.3 NM_001005463 CCDS31314 Q9H4W6 "12355068|28017370|28017372|28017373" MGI:894289 RGD:1304956 607407 HGNC:19087 "ENST00000440978.2|NM_001375380.1" HGNC:19087 +HGNC:56218 EBF3-AS1 EBF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Antisense RNAs 1987 2022-03-24 2022-03-24 105378558 ENSG00000287997 XR_946466 +HGNC:29278 EBF4 EBF family member 4 protein-coding gene gene with protein product Approved 20p13 20p13 "KIAA1442|COE4|RP5-860F19.3|O/E-4" early B cell factor 4 "Early B-cell factors|IPT domain containing" "1646|1752" 2007-06-07 2018-09-21 2018-11-15 57593 ENSG00000088881 OTTHUMG00000031709 uc002wgt.5 BC019106 NM_001110514 CCDS46573 Q9BQW3 10718198 MGI:2385972 RGD:1588215 609935 HGNC:29278 +HGNC:3129 EBI3 Epstein-Barr virus induced 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "IL27B|IL35B" "IL27 subunit|IL35 subunit" "Fibronectin type III domain containing|Minor histocompatibility antigens" "555|870" 2000-05-02 2008-09-12 2018-09-13 10148 ENSG00000105246 OTTHUMG00000181866 uc002lzu.4 L08187 NM_005755 CCDS12123 Q14213 8551575 MGI:1354171 RGD:1589467 605816 ligandId:6153 HGNC:3129 "ENST00000221847.6|NM_005755.3" +HGNC:39430 EBLN1 endogenous Bornavirus like nucleoprotein 1 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 endogenous Borna-like N element 1 2011-06-03 2017-06-13 2017-06-13 340900 ENSG00000223601 OTTHUMG00000017801 uc021pob.2 AA813437 NM_001199938 CCDS60498 P0CF75 "20054395|20686665" 613249 HGNC:39430 "ENST00000422359.3|NM_001394757.1" +HGNC:25493 EBLN2 endogenous Bornavirus like nucleoprotein 2 protein-coding gene gene with protein product Approved 3p13 03p13 endogenous Borna-like N element 2 2011-06-03 2017-06-13 2017-06-13 55096 ENSG00000255423 OTTHUMG00000165897 uc003dpj.4 NM_018029 CCDS54608 Q6P2I7 "20054395|20686665" 613250 HGNC:25493 "ENST00000533473.1|NM_018029.4" +HGNC:50682 EBLN3P endogenous Bornavirus like nucleoprotein 3, pseudogene pseudogene pseudogene Approved 9p13.2 09p13.2 LOC100506710 EBLN3 endogenous Bornavirus-like nucleoprotein 3 2014-06-05 2016-07-19 2019-02-18 2019-02-18 100506710 ENSG00000281649 OTTHUMG00000019910 NR_036592 27980086 PGOHUM00000304173 HGNC:50682 +HGNC:15531 EBNA1BP2 EBNA1 binding protein 2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "NOBP|EBP2|P40" EBNA1-binding protein 2 MicroRNA protein coding host genes 1691 2001-10-16 2001-11-28 2016-10-05 10969 ENSG00000117395 OTTHUMG00000007284 uc001cin.4 U86602 NM_001159936 "CCDS53308|CCDS478" Q99848 "10074103|11438656" MGI:1916322 RGD:1305762 614443 HGNC:15531 "ENST00000236051.3|NM_006824.3" +HGNC:3133 EBP EBP cholestenol delta-isomerase protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "CPX|CPXD|CHO2" "3-beta-hydroxysteroid-delta-8,delta-7-isomerase|Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)|sterol 8-isomerase" CDPX2 "emopamil-binding protein (sterol isomerase)|emopamil binding protein (sterol isomerase)" 2000-02-21 2019-01-21 2019-01-21 10682 ENSG00000147155 OTTHUMG00000034482 uc004djx.5 Z37986 NM_006579 CCDS14300 Q15125 "7706302|8938429" MGI:107822 RGD:620957 300205 121250 5.3.3.5 HGNC:3133 "ENST00000495186.6|NM_006579.3" HGNC:3133 +HGNC:18061 EBPL EBP like protein-coding gene gene with protein product Approved 13q14.2 13q14.2 EBRP "emopamil binding protein-like|emopamil binding protein like" 2004-04-16 2018-05-10 2018-05-10 84650 ENSG00000123179 OTTHUMG00000016920 uc001vdg.5 AF243433 NM_032565 "CCDS61334|CCDS9420" Q9BY08 MGI:1915427 RGD:1304571 617335 HGNC:18061 "ENST00000242827.11|NM_032565.5" +HGNC:3142 EBVM1 Epstein Barr virus modification site 1 other region Approved 11q23.1 11q23.1 2001-06-22 2020-01-30 "2843323|14526168|1327661" +HGNC:3143 EBVS1 Epstein Barr virus integration site 1 other virus integration site Approved 1p35 01p35 Epstein Barr virus insertion site 1 1988-07-29 2010-06-17 2010-06-17 1888 K02579 6095452 132850 +HGNC:17029 ECD ecdysoneless cell cycle regulator protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "hSGT1|GCR2" ecdysoneless homolog (Drosophila) 2006-02-06 2016-01-15 2016-01-15 11319 ENSG00000122882 OTTHUMG00000018451 uc001jtn.4 BC000721 NM_007265 "CCDS44434|CCDS44433|CCDS7321" O95905 "9928932|15128659" MGI:1917851 RGD:1565023 616464 HGNC:17029 "ENST00000372979.9|NM_007265.3" +HGNC:3146 ECE1 endothelin converting enzyme 1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 ECE M13 metallopeptidases 1439 1995-12-08 2016-10-05 1889 ENSG00000117298 OTTHUMG00000002625 uc001bek.3 D49471 NM_001397 "CCDS44082|CCDS44081|CCDS44083|CCDS215" P42892 "7805846|7864876|17592116" MGI:1101357 RGD:620293 600423 121255 M13.002 objectId:1615 HGNC:3146 "ENST00000374893.11|NM_001397.3" HGNC:3146 +HGNC:40203 ECE1-AS1 ECE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 Antisense RNAs 1987 2019-07-25 2019-07-25 100506801 ENSG00000231105 OTTHUMG00000002777 NR_038404 HGNC:40203 +HGNC:13275 ECE2 endothelin converting enzyme 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "KIAA0604|MGC2408" M13 metallopeptidases 1439 2003-09-03 2020-09-17 9718 ENSG00000145194 OTTHUMG00000150551 uc003fni.5 AF428263 NM_001100120 "CCDS43179|CCDS46969|CCDS33899" P0DPD6 11718899 MGI:1101356 RGD:1303039 610145 M13.003 objectId:1616 HGNC:13275 "ENST00000404464.8|NM_001100121.2" +HGNC:3147 ECEL1 endothelin converting enzyme like 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "XCE|DINE" damage induced neuronal endopeptidase M13 metallopeptidases 1439 1999-04-22 2016-05-27 2021-05-26 9427 ENSG00000171551 OTTHUMG00000133262 uc002vsv.3 Y16187 NM_004826 "CCDS77540|CCDS2493" O95672 "9931490|11352565" MGI:1343461 RGD:61806 605896 323407 M13.007 HGNC:3147 "ENST00000304546.6|NM_004826.4" HGNC:3147 +HGNC:14017 ECEL1P1 endothelin converting enzyme like 1 pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 2002-08-30 2016-06-07 2020-04-20 100131546 ENSG00000204121 OTTHUMG00000153336 NG_028777 11352565 PGOHUM00000298352 HGNC:14017 +HGNC:14019 ECEL1P2 endothelin converting enzyme like 1 pseudogene 2 pseudogene pseudogene Approved 2q37.1 02q37.1 ECEL2 2002-08-30 2016-06-07 2016-06-07 347694 ENSG00000244280 OTTHUMG00000153343 BC067110 NR_028501 "11352565|10698686" PGOHUM00000298351 HGNC:14019 +HGNC:14018 ECEL1P3 endothelin converting enzyme like 1 pseudogene 3 pseudogene pseudogene Approved 2q37.1 02q37.1 2002-08-30 2016-06-07 2016-06-07 260332 ENSG00000230122 OTTHUMG00000153353 NG_002700 11352565 PGOHUM00000298350 HGNC:14018 +HGNC:3149 ECH1 enoyl-CoA hydratase 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HPXEL "delta3,5-delta2,4-dienoyl-coenzyme A isomerase|peroxisomal enoyl-CoA hydratase 1" "enoyl Coenzyme A hydratase 1, peroxisomal|enoyl-CoA hydratase 1, peroxisomal" 1995-04-26 2016-06-30 2016-10-05 1891 ENSG00000104823 OTTHUMG00000182609 uc002oji.4 U16660 NM_001398 CCDS33014 Q13011 7558027 MGI:1858208 RGD:69353 600696 HGNC:3149 "ENST00000221418.9|NM_001398.3" +HGNC:21489 ECHDC1 ethylmalonyl-CoA decarboxylase 1 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 dJ351K20.2 "enoyl Coenzyme A hydratase domain containing 1|enoyl CoA hydratase domain containing 1" 2003-11-26 2014-11-18 2015-09-11 55862 ENSG00000093144 OTTHUMG00000015523 uc003qaz.5 AK025796 NM_001002030 "CCDS47472|CCDS55054|CCDS43504|CCDS34530|CCDS47471" Q9NTX5 22016388 MGI:1277169 RGD:1359654 612136 4.1.1.94 HGNC:21489 "ENST00000454859.8|NM_001002030.2" +HGNC:23408 ECHDC2 enoyl-CoA hydratase domain containing 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ10948 enoyl Coenzyme A hydratase domain containing 2 2005-01-12 2015-11-11 2015-11-11 55268 ENSG00000121310 OTTHUMG00000008927 uc001cup.5 AF258590 NM_018281 "CCDS55600|CCDS571|CCDS72794" Q86YB7 MGI:1289238 RGD:1308525 HGNC:23408 "ENST00000371522.9|NM_001198961.2" +HGNC:23489 ECHDC3 enoyl-CoA hydratase domain containing 3 protein-coding gene gene with protein product Approved 10p14 10p14 FLJ20909 enoyl Coenzyme A hydratase domain containing 3 2003-11-20 2015-11-11 2019-02-20 79746 ENSG00000134463 OTTHUMG00000017675 uc001ikw.5 AF275677 NM_024693 CCDS7084 Q96DC8 27586541 MGI:1915106 RGD:1589147 HGNC:23489 "ENST00000379215.9|NM_024693.5" +HGNC:3151 ECHS1 enoyl-CoA hydratase, short chain 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 SCEH short chain enoyl-CoA hydratase "enoyl Coenzyme A hydratase, short chain, 1, mitochondrial|enoyl-CoA hydratase, short chain, 1, mitochondrial" MicroRNA protein coding host genes 1691 1996-12-17 2016-06-30 2021-05-26 1892 ENSG00000127884 OTTHUMG00000019320 uc001lmu.4 NM_004092 CCDS7681 P30084 "8012501|25393721" MGI:2136460 RGD:69330 602292 426564 4.2.1.17 HGNC:3151 "ENST00000368547.4|NM_004092.4" HGNC:3151 +HGNC:2703 ECI1 enoyl-CoA delta isomerase 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 3,2 trans-enoyl-CoA isomerase DCI "dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)|dodecenoyl-CoA isomerase" 1994-02-23 2011-03-15 2011-03-15 2015-08-25 1632 ENSG00000167969 OTTHUMG00000128830 uc002cpr.4 NM_001178029 "CCDS10464|CCDS58410" P42126 7829074 MGI:94871 RGD:61892 600305 5.3.3.8 HGNC:2703 "ENST00000301729.9|NM_001919.4" +HGNC:56088 ECI1-AS1 ECI1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2021-12-20 2021-12-20 123706507 ENSG00000261663 +HGNC:14601 ECI2 enoyl-CoA delta isomerase 2 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "ACBD2|DRS1|HCA88" "acyl-Coenzyme A binding domain containing 2|Hepatocellular carcinoma-associated antigen 88" PECI peroxisomal D3,D2-enoyl-CoA isomerase 2001-07-17 2011-03-15 2011-03-15 2022-03-08 10455 ENSG00000198721 OTTHUMG00000014158 uc003mwf.4 AF069301 NM_006117 "CCDS4490|CCDS43420" O75521 10419495 MGI:1346064 RGD:1359427 608024 HGNC:14601 "ENST00000380118.8|NM_206836.3" +HGNC:54425 ECI2-DT ECI2 divergent transcript non-coding RNA RNA, long non-coding Approved 6p25.2 06p25.2 Divergent transcripts 1990 2019-07-25 2019-07-25 100507506 ENSG00000234817 NR_103764 HGNC:54425 +HGNC:3153 ECM1 extracellular matrix protein 1 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 1996-09-19 2021-05-26 1893 ENSG00000143369 OTTHUMG00000012806 uc001eus.4 U68186 NM_004425 "CCDS55632|CCDS954|CCDS953" Q16610 "9367673|9501329" MGI:103060 RGD:620357 602201 121261 HGNC:3153 "ENST00000369047.9|NM_004425.4" HGNC:3153 +HGNC:49736 ECM1P1 extracellular matrix protein 1 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 2014-02-13 2014-02-13 100420354 ENSG00000270639 OTTHUMG00000184620 NG_023776 PGOHUM00000235947 HGNC:49736 +HGNC:49737 ECM1P2 extracellular matrix protein 1 pseudogene 2 pseudogene pseudogene Approved 4p15.33 04p15.33 2014-02-13 2014-02-13 106481698 ENSG00000249995 OTTHUMG00000160087 NG_043188 PGOHUM00000245853 HGNC:49737 +HGNC:3154 ECM2 extracellular matrix protein 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 matrix glycoprotein SC1/ECM2 extracellular matrix protein 2, female organ and adipocyte specific 1998-03-25 2016-03-15 2016-10-05 1842 ENSG00000106823 OTTHUMG00000020226 uc011lty.3 AB011792 NM_001393 "CCDS56578|CCDS6698" O94769 9790758 MGI:3039578 RGD:2320282 603479 HGNC:3154 "ENST00000344604.10|NM_001393.4" +HGNC:55152 ECMXP extracellular matrix protein X-linked, pseudogene pseudogene pseudogene Approved Xq28 Xq28 2020-07-16 2020-07-21 105373381 ENSG00000224963 NR_169597 19077264 +HGNC:29020 ECPAS Ecm29 proteasome adaptor and scaffold protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "FLJ22036|ECM29" ECM29 homolog (S. cerevisiae) KIAA0368 "KIAA0368|Ecm29 proteasome adaptor and scaffold" 2004-01-27 2017-12-15 2017-12-15 2018-03-15 23392 ENSG00000136813 OTTHUMG00000020489 uc004bfe.1 AK025689 NM_001080398 CCDS87673 Q5VYK3 "15496406|20682791|26802743" MGI:2140220 RGD:1306148 616694 HGNC:29020 "ENST00000684092.1|NM_001364929.1" +HGNC:24642 ECRG4 ECRG4 augurin precursor protein-coding gene gene with protein product Approved 2q12.2 02q12.2 augurin esophageal cancer related gene 4 protein C2orf40 chromosome 2 open reading frame 40 2006-07-31 2019-04-18 2019-04-18 2019-04-18 84417 ENSG00000119147 OTTHUMG00000130921 uc010fjf.4 BC021742 NM_032411 CCDS2072 Q9H1Z8 12800218 MGI:1926146 RGD:1305645 611752 HGNC:24642 "ENST00000238044.8|NM_032411.3" +HGNC:35454 ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "ECSM2|ARIA" "endothelial cell-specific molecule 2|apoptosis regulator through modulating IAP expression" endothelial cell-specific chemotaxis regulator 2009-02-12 2012-03-21 2016-10-25 641700 ENSG00000249751 OTTHUMG00000163240 uc032vne.2 DQ462572 NM_001077693 CCDS75317 Q19T08 18556573 MGI:1915795 RGD:1594804 615736 HGNC:35454 "ENST00000618155.3|NM_001077693.4" +HGNC:29548 ECSIT ECSIT signaling integrator protein-coding gene gene with protein product Approved 19p13.2 19p13.2 SITPEC signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse) "ECSIT homolog (Drosophila)|ECSIT signalling integrator" Mitochondrial complex I assembly complex 1387 2006-08-08 2019-09-11 2019-09-11 51295 ENSG00000130159 OTTHUMG00000178590 uc002msb.4 BC005119 NM_016581 "CCDS45980|CCDS59353|CCDS45979|CCDS12262" Q9BQ95 "10465784|22982022" MGI:1349469 RGD:1359488 608388 470254 HGNC:29548 "ENST00000270517.12|NM_016581.5" +HGNC:3155 ECT2 epithelial cell transforming 2 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 ARHGEF31 epithelial cell transforming sequence 2 oncogene Dbl family Rho GEFs 722 1993-10-15 2014-03-11 2016-10-05 1894 ENSG00000114346 OTTHUMG00000156762 uc003fii.4 AA206473 NM_018098 "CCDS3220|CCDS87168|CCDS58860" Q9H8V3 "8464478|10579713" MGI:95281 RGD:1308524 600586 HGNC:3155 "ENST00000392692.8|NM_001258315.2" +HGNC:21118 ECT2L epithelial cell transforming 2 like protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "ARHGEF32|FBXO49|LFDH" "lung specific F-box and DH domain containing protein|F-box protein 49" C6orf91 "chromosome 6 open reading frame 91|epithelial cell transforming sequence 2 oncogene-like" "F-boxes other|Dbl family Rho GEFs" "560|722" 2003-11-26 2014-03-11 2015-08-25 345930 ENSG00000203734 OTTHUMG00000015679 uc063rvm.1 NM_001077706 CCDS43508 Q008S8 MGI:3641723 RGD:9246970 HGNC:21118 "ENST00000541398.7|NM_001077706.3" +HGNC:3157 EDA ectodysplasin A protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "EDA1|XLHED|HED|XHED|ED1-A1|ED1-A2|EDA-A1|EDA-A2" "ED1|EDA2|ODT1" "ectodermal dysplasia 1, anhidrotic|oligodontia 1" "Tumor necrosis factor superfamily|MicroRNA protein coding host genes" "781|1691" 2001-06-22 2004-08-12 2004-08-09 2020-04-02 1896 ENSG00000158813 OTTHUMG00000021764 uc004dxr.4 U59227 NM_001399 "CCDS14394|CCDS35318|CCDS35319|CCDS43966|CCDS55436" Q92838 "8696334|18657636|16583127" MGI:1195272 RGD:1563178 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDA 300451 121263 ligandId:6144 HGNC:3157 "ENST00000374552.9|NM_001399.5" HGNC:3157 +HGNC:17756 EDA2R ectodysplasin A2 receptor protein-coding gene gene with protein product Approved Xq12 Xq12 "XEDAR|EDA-A2R|EDAA2R|TNFRSF27" Tumor necrosis factor receptor superfamily 782 2004-08-17 2020-04-02 60401 ENSG00000131080 OTTHUMG00000021736 uc004dwq.4 AF298812 NM_021783 "CCDS14386|CCDS56603" Q9HAV5 11039935 MGI:2442860 RGD:1564025 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDA2R 300276 325286 objectId:1896 HGNC:17756 "ENST00000374719.8|NM_021783.5" HGNC:17756 +HGNC:2895 EDAR ectodysplasin A receptor protein-coding gene gene with protein product Approved 2q13 02q13 "ED5|EDA3|ED1R|EDA1R" "ED3|DL" ectodysplasin 1, anhidrotic receptor Tumor necrosis factor receptor superfamily 782 1999-08-09 2004-08-09 2020-04-30 10913 ENSG00000135960 OTTHUMG00000130982 uc002teq.4 AF130988 NM_022336 CCDS2081 Q9UNE0 "10431241|9375732" MGI:1343498 RGD:1561714 604095 121273 objectId:2325 HGNC:2895 "ENST00000258443.7|NM_022336.4" HGNC:2895 +HGNC:14341 EDARADD EDAR associated death domain protein-coding gene gene with protein product Approved 1q42.3-q43 01q42.3-q43 2002-02-08 2016-06-10 2018-02-13 128178 ENSG00000186197 OTTHUMG00000039954 uc001hxu.2 AY028914 NM_145861 "CCDS1610|CCDS31065" Q8WWZ3 11780064 MGI:1931001 RGD:1564010 606603 121282 HGNC:14341 "ENST00000334232.9|NM_145861.4" HGNC:14341 +HGNC:26114 EDC3 enhancer of mRNA decapping 3 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "FLJ21128|hYjeF_N2-15q23|YJEFN2|LSM16" LSM16 homolog (EDC3, S. cerevisiae) YJDC "yjeF domain containing (E.coli)|enhancer of mRNA decapping 3 homolog (S. cerevisiae)" 2005-10-24 2006-07-07 2013-05-02 2015-06-25 80153 ENSG00000179151 OTTHUMG00000142815 uc002aym.4 BC011534 NM_025083 CCDS10267 Q96F86 "15225602|17533573|22483619" MGI:2142951 RGD:1306898 609842 434391 HGNC:26114 "ENST00000315127.9|NM_025083.5" HGNC:26114 +HGNC:17157 EDC4 enhancer of mRNA decapping 4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "RCD-8|Ge-1|HEDLS" WD repeat domain containing 362 2006-07-07 2014-11-19 23644 ENSG00000038358 OTTHUMG00000137543 uc002eur.4 U17474 NM_014329 CCDS10849 Q6P2E9 9067524 MGI:2446249 RGD:1562009 606030 HGNC:17157 "ENST00000358933.10|NM_014329.5" +HGNC:16978 EDDM3A epididymal protein 3A protein-coding gene gene with protein product Approved 14q11.2 14q11.2 HE3-ALPHA FAM12A family with sequence similarity 12, member A 2002-09-23 2010-01-27 2010-01-27 2016-10-05 10876 ENSG00000181562 OTTHUMG00000029581 uc001vyc.4 X76383 NM_006683 CCDS9556 Q14507 7514008 MGI:2684921 611580 HGNC:16978 "ENST00000326842.3|NM_006683.5" +HGNC:19223 EDDM3B epididymal protein 3B protein-coding gene gene with protein product Approved 14q11.2 14q11.2 HE3-BETA FAM12B family with sequence similarity 12, member B (epididymal) 2002-09-23 2010-01-27 2010-01-27 2016-10-05 64184 ENSG00000181552 OTTHUMG00000029583 uc001vyd.3 X76386 NM_022360 CCDS9557 P56851 7514008 MGI:2684921 RGD:631349 611582 HGNC:19223 "ENST00000326783.4|NM_022360.5" +HGNC:19224 EDDM3CP epididymal protein 3C, pseudogene pseudogene pseudogene Approved 2q21.3 02q21.3 HE3-GAMMA FAM12CP family with sequence similarity 12, member C (pseudogene) 2002-09-23 2010-01-27 2011-04-15 2016-10-05 266643 ENSG00000234060 OTTHUMG00000153734 X76387 NG_002367 7514008 PGOHUM00000240352 HGNC:19224 +HGNC:37707 EDDM3DP epididymal protein 3D, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2010-06-17 2011-04-15 2014-11-19 100128220 ENSG00000258963 OTTHUMG00000171014 NG_028961 PGOHUM00000248044 HGNC:37707 +HGNC:53168 EDDM13 epididymal protein 13 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 2017-03-16 2017-03-16 100506374 ENSG00000267710 OTTHUMG00000182076 NM_001354658 A0A1B0GTR0 MGI:3643580 HGNC:53168 "ENST00000649256.2|NM_001354658.2" +HGNC:18967 EDEM1 ER degradation enhancing alpha-mannosidase like protein 1 protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "KIAA0212|EDEM" ER degradation enhancer, mannosidase alpha-like 1 Mannosidases alpha class 1 1193 2003-10-03 2016-04-05 2016-04-05 9695 ENSG00000134109 OTTHUMG00000154896 uc003bqi.4 D86967 NM_014674 CCDS33686 Q92611 12610306 MGI:2180139 RGD:1563633 607673 HGNC:18967 "ENST00000256497.9|NM_014674.3" +HGNC:15877 EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "FLJ10783|bA4204.1" "C20orf49|C20orf31" "chromosome 20 open reading frame 31|ER degradation enhancer, mannosidase alpha-like 2" Mannosidases alpha class 1 1193 2001-06-21 2006-03-31 2016-04-05 2016-04-05 55741 ENSG00000088298 OTTHUMG00000032322 uc002xbo.3 AK001645 NM_018217 "CCDS46592|CCDS13247" Q9BV94 "15537790|15579471" MGI:1915540 RGD:1303074 610302 HGNC:15877 "ENST00000374492.8|NM_018217.3" +HGNC:16787 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 C1orf22 "chromosome 1 open reading frame 22|ER degradation enhancer, mannosidase alpha-like 3" Mannosidases alpha class 1 1193 2001-10-08 2006-03-31 2016-04-05 2016-10-05 80267 ENSG00000116406 OTTHUMG00000035387 uc010pok.3 AF288393 NM_025191 CCDS1363 Q9BZQ6 "15537790|15579471" MGI:1914217 RGD:1561496 610214 HGNC:16787 "ENST00000318130.13|NM_025191.4" +HGNC:3164 EDF1 endothelial differentiation related factor 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "EDF-1|CFAP280" multiprotein bridging factor-1 endothelial differentiation-related factor 1 Cilia and flagella associated 1491 1999-01-07 2016-03-15 2016-03-15 8721 ENSG00000107223 OTTHUMG00000020948 uc004cjt.3 AJ005259 NM_001281297 "CCDS7012|CCDS65193|CCDS7011" O60869 "9813014|15112053" MGI:1891227 RGD:1308073 605107 HGNC:3164 "ENST00000224073.6|NM_003792.4" +HGNC:3173 EDIL3 EGF like repeats and discoidin domains 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 DEL1 EGF-like repeats and discoidin I-like domains 3 1999-12-16 2016-01-21 2016-10-05 10085 ENSG00000164176 OTTHUMG00000119047 uc003kio.3 U70312 NM_005711 "CCDS4062|CCDS64195" O43854 9420328 MGI:1329025 RGD:1588887 606018 HGNC:3173 "ENST00000296591.10|NM_005711.5" +HGNC:40204 EDIL3-DT EDIL3 divergent transcript non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Divergent transcripts 1990 2019-07-25 2019-07-25 105379057 ENSG00000250320 OTTHUMG00000162622 XR_001742779 HGNC:40204 +HGNC:3176 EDN1 endothelin 1 protein-coding gene gene with protein product Approved 6p24.1 06p24.1 ET1 Endothelins 1908 1989-04-06 2021-05-26 1906 ENSG00000078401 OTTHUMG00000014266 uc003nae.5 S56805 NM_001955 CCDS4522 P05305 MGI:95283 RGD:2532 131240 376969 ligandId:989 HGNC:3176 "ENST00000379375.6|NM_001955.5" HGNC:3176 +HGNC:3177 EDN2 endothelin 2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 ET2 Endothelins 1908 1989-09-06 2016-10-05 1907 ENSG00000127129 OTTHUMG00000006362 uc001cgx.4 M65199 NM_001956 CCDS462 P20800 MGI:95284 RGD:2533 131241 ligandId:990 HGNC:3177 "ENST00000372587.5|NM_001956.5" +HGNC:3178 EDN3 endothelin 3 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 ET3 Endothelins 1908 1989-09-06 2021-05-26 1908 ENSG00000124205 OTTHUMG00000032867 uc002yaq.4 X52001 NM_000114 "CCDS13478|CCDS77597|CCDS13479|CCDS13477" P14138 MGI:95285 RGD:2534 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDN3|LRG_1381|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1381.xml" 131242 121284 ligandId:1004 HGNC:3178 "ENST00000337938.7|NM_207034.3" HGNC:3178 +HGNC:3179 EDNRA endothelin receptor type A protein-coding gene gene with protein product Approved 4q31.22-q31.23 04q31.22-q31.23 "ET-A|ETA-R|hET-AR" Endothelin receptors 225 1992-02-13 2021-05-26 1909 ENSG00000151617 OTTHUMG00000161354 uc003iky.4 D90348 NM_001166055 "CCDS54810|CCDS3769" P25101 1659806 MGI:105923 RGD:2535 131243 448610 objectId:219 HGNC:3179 "ENST00000651419.1|NM_001957.4" HGNC:3179 +HGNC:3180 EDNRB endothelin receptor type B protein-coding gene gene with protein product Approved 13q22.3 13q22.3 ETB "HSCR2|HSCR" Endothelin receptors 225 1992-02-13 2021-05-26 1910 ENSG00000136160 OTTHUMG00000017111 uc001vko.3 L06623 NM_000115 "CCDS45059|CCDS9461|CCDS55902" P24530 "1659806|9556633" MGI:102720 RGD:2536 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EDNRB 131244 121287 objectId:220 HGNC:3180 "ENST00000646607.2|NM_001122659.3" HGNC:3180 +HGNC:49045 EDNRB-AS1 EDNRB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q22.3 13q22.3 Antisense RNAs 1987 2013-08-15 2013-08-15 100505518 ENSG00000225579 OTTHUMG00000017113 BC031243 NR_103853 EDNRB-AS1 HGNC:49045 +HGNC:24640 EDRF1 erythroid differentiation regulatory factor 1 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "DKFZp586F1019|FLJ21617" erythroid differentiation-related factor 1 C10orf137 chromosome 10 open reading frame 137 2004-05-12 2013-12-20 2013-12-20 2013-12-20 26098 ENSG00000107938 OTTHUMG00000019233 AL050102 NM_015608 "CCDS55733|CCDS7646" Q3B7T1 12609092 MGI:1919831 RGD:1306820 HGNC:24640 "ENST00000356792.9|NM_001202438.2" +HGNC:49501 EDRF1-AS1 EDRF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.2 10q26.2 Antisense RNAs 1987 2013-12-20 2016-10-05 101927983 ENSG00000236991 OTTHUMG00000189700 "AA868453|BX091673" XR_246200 EDRF1-AS1 HGNC:49501 +HGNC:54128 EDRF1-DT EDRF1 divergent transcript non-coding RNA RNA, long non-coding Approved 10q26.2 10q26.2 Divergent transcripts 1990 2018-12-06 2018-12-06 399821 ENSG00000224023 NR_033847 HGNC:54128 +HGNC:3185 EEA1 early endosome antigen 1 protein-coding gene gene with protein product Approved 12q22 12q22 ZFYVE2 early endosome antigen 1, 162kD Zinc fingers FYVE-type 81 1998-12-23 2007-02-23 2016-11-09 8411 ENSG00000102189 OTTHUMG00000170110 uc001tck.4 L40157 NM_003566 CCDS31874 Q15075 "7768953|9697774" MGI:2442192 RGD:1310167 605070 HGNC:3185 "ENST00000322349.13|NM_003566.4" +HGNC:3188 EED embryonic ectoderm development protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "WAIT-1|HEED" WD protein associating with integrin cytoplasmic tails 1 "WD repeat domain containing|Polycomb repressive complex 2|MicroRNA protein coding host genes" "362|1347|1691" 1998-12-09 2016-10-05 8726 ENSG00000074266 OTTHUMG00000167209 uc001pbp.4 AF078933 NM_003797 "CCDS76463|CCDS8273|CCDS81612" O75530 "9765275|9806832" MGI:95286 RGD:1309782 605984 objectId:2487 HGNC:3188 "ENST00000263360.11|NM_003797.5" HGNC:3188 +HGNC:55143 EEDP1 EED pseudogene 1 pseudogene pseudogene Approved Xq27.1 Xq27.1 2020-07-15 2020-07-15 266694 ENSG00000224942 NG_002372 +HGNC:3189 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 protein-coding gene gene with protein product Approved 6q13 06q13 "EE1A1|EF1A1|EF1alpha1" Elongation factor 1-alpha 1 "EF1A|EEF1A|LENG7" leukocyte receptor cluster (LRC) member 7 1991-03-11 2004-11-19 2021-09-28 1915 ENSG00000156508 OTTHUMG00000015031 uc063pot.1 BC019669 NM_001402 CCDS4980 P68104 "8812466|10941842" MGI:1096881 RGD:67387 130590 470256 HGNC:3189 "ENST00000309268.11|NM_001402.6" +HGNC:40206 EEF1A1-AS1 EEF1A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 Antisense RNAs 1987 2021-07-28 2021-07-28 122152327 ENSG00000229862 OTTHUMG00000150059 +HGNC:3191 EEF1A1P1 eukaryotic translation elongation factor 1 alpha 1 pseudogene 1 pseudogene pseudogene Approved 21q21.2 21q21.2 EEF1A1P eukaryotic translation elongation factor 1 alpha 1 pseudogene 2000-05-23 2009-11-25 2013-07-10 2016-10-05 54054 ENSG00000223822 OTTHUMG00000078248 NG_000926 PGOHUM00000239156 HGNC:3191 +HGNC:20008 EEF1A1P2 eukaryotic translation elongation factor 1 alpha 1 pseudogene 2 pseudogene pseudogene Approved 14q31.1 14q31.1 2003-01-13 2014-11-28 319112 ENSG00000258841 OTTHUMG00000171399 NG_002494 PGOHUM00000292739 HGNC:20008 +HGNC:3194 EEF1A1P3 eukaryotic translation elongation factor 1 alpha 1 pseudogene 3 pseudogene pseudogene Approved 13q12.2 13q12.2 EEF1A1 (Eukaryotic translation elongation factor 1 alpha 1) pseudogene "EEF1AL|EEF1AL1" "eukaryotic translation elongation factor 1 alpha-like 1|eukaryotic translation elongation factor 1 alpha-like 1 pseudogene" 1992-09-18 2010-03-02 2010-03-02 2020-04-20 100421865 ENSG00000232587 OTTHUMG00000016644 NG_024908 8812466 PGOHUM00000248554 HGNC:3194 +HGNC:3199 EEF1A1P4 eukaryotic translation elongation factor 1 alpha 1 pseudogene 4 pseudogene pseudogene Approved 12p12.3 12p12.3 EEF1AL2 eukaryotic translation elongation factor 1 alpha-like 2 1995-08-15 2010-03-04 2010-03-04 2020-04-20 100421854 ENSG00000245205 OTTHUMG00000168909 NG_023989 8812466 PGOHUM00000239367 HGNC:3199 +HGNC:3200 EEF1A1P5 eukaryotic translation elongation factor 1 alpha 1 pseudogene 5 pseudogene pseudogene Approved 9q34.13 09q34.13 EEF1AL3 eukaryotic translation elongation factor 1 alpha-like 3 1995-08-15 2010-03-04 2010-03-04 2014-11-19 158078 ENSG00000196205 OTTHUMG00000020851 NG_002350 Q5VTE0 8812466 HGNC:3200 +HGNC:3201 EEF1A1P6 eukaryotic translation elongation factor 1 alpha 1 pseudogene 6 pseudogene pseudogene Approved 7p15.3 07p15.3 EEF1AL4 eukaryotic translation elongation factor 1 alpha-like 4 1995-08-15 2010-03-04 2010-03-04 2010-09-22 221838 ENSG00000233476 OTTHUMG00000152528 NG_002353 8812466 PGOHUM00000250855 HGNC:3201 +HGNC:3202 EEF1A1P7 eukaryotic translation elongation factor 1 alpha 1 pseudogene 7 pseudogene pseudogene Approved 19q13.12 19q13.12 EEF1AL5 "eukaryotic translation elongation factor 1 alpha-like 5|eukaryotic translation elongation factor 1 alpha-like 5 pseudogene" 1995-08-15 2010-03-04 2010-03-04 2016-07-25 390924 ENSG00000268222 OTTHUMG00000183302 NG_008815 8812466 PGOHUM00000295345 HGNC:3202 +HGNC:3203 EEF1A1P8 eukaryotic translation elongation factor 1 alpha 1 pseudogene 8 pseudogene pseudogene Approved 3q27.1 03q27.1 EEF1AL6 "eukaryotic translation elongation factor 1 alpha-like 6|eukaryotic translation elongation factor 1 alpha-like 6 pseudogene" 1995-08-15 2010-03-04 2010-03-04 2014-11-19 389179 ENSG00000223529 OTTHUMG00000156863 NG_006547 8812466 PGOHUM00000237893 HGNC:3203 +HGNC:3204 EEF1A1P9 eukaryotic translation elongation factor 1 alpha 1 pseudogene 9 pseudogene pseudogene Approved 4q24 04q24 EEF1AL7 eukaryotic translation elongation factor 1 alpha-like 7 1995-08-15 2010-03-04 2010-03-04 2014-11-28 441032 ENSG00000249264 OTTHUMG00000161040 NR_003586 8812466 PGOHUM00000300312 HGNC:3204 +HGNC:3205 EEF1A1P10 eukaryotic translation elongation factor 1 alpha 1 pseudogene 10 pseudogene pseudogene Approved 7q35 07q35 EEF1AL8 eukaryotic translation elongation factor 1 alpha-like 8 1995-08-15 2010-03-04 2010-03-04 2020-04-20 100421829 ENSG00000243746 OTTHUMG00000158061 NG_026523 8812466 PGOHUM00000302473 HGNC:3205 +HGNC:3206 EEF1A1P11 eukaryotic translation elongation factor 1 alpha 1 pseudogene 11 pseudogene pseudogene Approved 1p21.3 01p21.3 eukaryotic translation elongation factor 1 alpha 1 (EEF1A1) pseudogene EEF1AL9 "eukaryotic translation elongation factor 1 alpha-like 9|eukaryotic translation elongation factor 1 alpha-like 9 pseudogene" 1995-08-15 2010-03-04 2010-03-04 2014-11-28 440595 ENSG00000228502 OTTHUMG00000010710 NG_008817 8812466 PGOHUM00000296410 HGNC:3206 +HGNC:3195 EEF1A1P12 eukaryotic translation elongation factor 1 alpha 1 pseudogene 12 pseudogene pseudogene Approved 2q12.2 02q12.2 EEF1AL10 eukaryotic translation elongation factor 1 alpha-like 10 1995-08-15 2010-03-04 2010-03-04 2020-04-20 644604 ENSG00000214199 OTTHUMG00000153185 NG_016738 8812466 PGOHUM00000240238 HGNC:3195 +HGNC:3196 EEF1A1P13 eukaryotic translation elongation factor 1 alpha 1 pseudogene 13 pseudogene pseudogene Approved 5p15.2 05p15.2 EEF1AL11 eukaryotic translation elongation factor 1 alpha-like 11 1995-08-15 2010-03-04 2010-03-04 2013-04-24 133283 ENSG00000250182 OTTHUMG00000161826 NG_002349 "8812466|10343093" HGNC:3196 +HGNC:3197 EEF1A1P14 eukaryotic translation elongation factor 1 alpha 1 pseudogene 14 pseudogene pseudogene Approved 1q31.3 01q31.3 eukaryotic translation elongation factor 1 alpha 1 (EEF1A1) pseudogene EEF1AL12 "eukaryotic translation elongation factor 1 alpha-like 12|eukaryotic translation elongation factor 1 alpha-like 12 pseudogene" 1995-08-15 2010-03-04 2010-03-04 2014-11-19 647167 ENSG00000233057 OTTHUMG00000035565 NG_008758 8812466 PGOHUM00000245137 HGNC:3197 +HGNC:3198 EEF1A1P15 eukaryotic translation elongation factor 1 alpha 1 pseudogene 15 pseudogene pseudogene Approved Xq21.33 Xq21.33 EEF1AL13 eukaryotic translation elongation factor 1 alpha-like 13 1995-08-15 2010-03-04 2010-03-04 2020-04-20 643563 ENSG00000213704 OTTHUMG00000021994 NG_016768 8812466 PGOHUM00000305205 HGNC:3198 +HGNC:37889 EEF1A1P16 eukaryotic translation elongation factor 1 alpha 1 pseudogene 16 pseudogene pseudogene Approved 12p12.3 12p12.3 2010-03-09 2014-11-28 387845 ENSG00000213235 OTTHUMG00000168859 NG_022950 PGOHUM00000291569 HGNC:37889 +HGNC:37890 EEF1A1P17 eukaryotic translation elongation factor 1 alpha 1 pseudogene 17 pseudogene pseudogene Approved 12q12 12q12 2010-03-09 2014-11-28 401717 ENSG00000257907 OTTHUMG00000169355 NG_022965 PGOHUM00000291633 HGNC:37890 +HGNC:37891 EEF1A1P18 eukaryotic translation elongation factor 1 alpha 1 pseudogene 18 pseudogene pseudogene Approved 11q13.1 11q13.1 2010-03-09 2021-07-19 100887747 ENSG00000270775 NG_029947 PGOHUM00000242326 HGNC:37891 +HGNC:37892 EEF1A1P19 eukaryotic translation elongation factor 1 alpha 1 pseudogene 19 pseudogene pseudogene Approved 5p12 05p12 2010-03-09 2014-11-28 100421796 ENSG00000249855 OTTHUMG00000162225 NG_021847 PGOHUM00000300575 HGNC:37892 +HGNC:37893 EEF1A1P20 eukaryotic translation elongation factor 1 alpha 1 pseudogene 20 pseudogene pseudogene Approved 5q21.1 05q21.1 2010-03-09 2014-11-28 100421797 ENSG00000249963 OTTHUMG00000162803 NG_021893 PGOHUM00000301076 HGNC:37893 +HGNC:37894 EEF1A1P21 eukaryotic translation elongation factor 1 alpha 1 pseudogene 21 pseudogene pseudogene Approved 4p15.1 04p15.1 2010-03-09 2014-11-28 100421807 ENSG00000249542 OTTHUMG00000160342 NG_022054 PGOHUM00000300174 HGNC:37894 +HGNC:37895 EEF1A1P22 eukaryotic translation elongation factor 1 alpha 1 pseudogene 22 pseudogene pseudogene Approved 15q21.3 15q21.3 2010-03-09 2014-11-19 645693 ENSG00000259612 OTTHUMG00000172482 NG_022970 PGOHUM00000246786 HGNC:37895 +HGNC:37896 EEF1A1P23 eukaryotic translation elongation factor 1 alpha 1 pseudogene 23 pseudogene pseudogene Approved 3q29 03q29 2010-03-09 2021-07-19 100421815 ENSG00000236297 NG_022235 PGOHUM00000299311 HGNC:37896 +HGNC:37897 EEF1A1P24 eukaryotic translation elongation factor 1 alpha 1 pseudogene 24 pseudogene pseudogene Approved 3p22.1 03p22.1 2010-03-09 2014-11-28 645715 ENSG00000223668 OTTHUMG00000156250 XR_017484 PGOHUM00000299407 HGNC:37897 +HGNC:37898 EEF1A1P25 eukaryotic translation elongation factor 1 alpha 1 pseudogene 25 pseudogene pseudogene Approved 3q22.3 03q22.3 2010-03-09 2014-11-28 646612 ENSG00000241429 OTTHUMG00000159887 NG_022276 PGOHUM00000299612 HGNC:37898 +HGNC:37899 EEF1A1P26 eukaryotic translation elongation factor 1 alpha 1 pseudogene 26 pseudogene pseudogene Approved 7p21.2 07p21.2 2010-03-09 2014-11-19 100128637 ENSG00000233167 OTTHUMG00000152411 NG_022551 PGOHUM00000233136 HGNC:37899 +HGNC:37900 EEF1A1P27 eukaryotic translation elongation factor 1 alpha 1 pseudogene 27 pseudogene pseudogene Approved 7p21.1 07p21.1 2010-03-09 2014-11-28 100130234 ENSG00000179460 OTTHUMG00000152499 NG_022552 PGOHUM00000302545 HGNC:37900 +HGNC:37902 EEF1A1P28 eukaryotic translation elongation factor 1 alpha 1 pseudogene 28 pseudogene pseudogene Approved 7q21.13 07q21.13 2010-03-09 2014-11-28 442709 ENSG00000237709 OTTHUMG00000154431 NG_009429 PGOHUM00000302841 HGNC:37902 +HGNC:37904 EEF1A1P29 eukaryotic translation elongation factor 1 alpha 1 pseudogene 29 pseudogene pseudogene Approved Xq21.2 Xq21.2 2010-03-09 2014-11-28 100130211 ENSG00000215093 OTTHUMG00000021941 NG_009085 PGOHUM00000304735 HGNC:37904 +HGNC:37906 EEF1A1P30 eukaryotic translation elongation factor 1 alpha 1 pseudogene 30 pseudogene pseudogene Approved Xq24 Xq24 2010-03-09 2014-11-28 402420 ENSG00000237757 OTTHUMG00000022294 NG_023023 PGOHUM00000304823 HGNC:37906 +HGNC:37908 EEF1A1P31 eukaryotic translation elongation factor 1 alpha 1 pseudogene 31 pseudogene pseudogene Approved Xq28 Xq28 2010-03-09 2014-11-19 553820 ENSG00000237859 OTTHUMG00000013503 NG_026783 PGOHUM00000241618 HGNC:37908 +HGNC:37909 EEF1A1P32 eukaryotic translation elongation factor 1 alpha 1 pseudogene 32 pseudogene pseudogene Approved 1q31.3 01q31.3 2010-03-09 2014-11-28 730232 ENSG00000213046 OTTHUMG00000035652 XR_016092. PGOHUM00000296712 HGNC:37909 +HGNC:37911 EEF1A1P33 eukaryotic translation elongation factor 1 alpha 1 pseudogene 33 pseudogene pseudogene Approved 12q23.1 12q23.1 2010-03-09 2014-11-19 390352 ENSG00000258846 OTTHUMG00000170603 NG_021698 PGOHUM00000239553 HGNC:37911 +HGNC:37912 EEF1A1P34 eukaryotic translation elongation factor 1 alpha 1 pseudogene 34 pseudogene pseudogene Approved 20p11.23 20p11.23 2010-03-09 2014-11-19 100132358 ENSG00000233324 OTTHUMG00000031987 NG_021977 PGOHUM00000247458 HGNC:37912 +HGNC:37913 EEF1A1P35 eukaryotic translation elongation factor 1 alpha 1 pseudogene 35 pseudogene pseudogene Approved 4q28.3 04q28.3 2010-03-09 2021-07-19 389223 ENSG00000250144 NG_022081 PGOHUM00000246085 HGNC:37913 +HGNC:37914 EEF1A1P36 eukaryotic translation elongation factor 1 alpha 1 pseudogene 36 pseudogene pseudogene Approved 6q23.2 06q23.2 2010-03-09 2014-11-19 100421820 ENSG00000223912 OTTHUMG00000016340 NG_022371 PGOHUM00000243775 HGNC:37914 +HGNC:37915 EEF1A1P37 eukaryotic translation elongation factor 1 alpha 1 pseudogene 37 pseudogene pseudogene Approved 8q23.3 08q23.3 2010-03-10 2014-11-18 100421825 ENSG00000254124 OTTHUMG00000164914 NG_022431 PGOHUM00000249780 HGNC:37915 +HGNC:37916 EEF1A1P38 eukaryotic translation elongation factor 1 alpha 1 pseudogene 38 pseudogene pseudogene Approved 16p12.1 16p12.1 2010-03-10 2017-10-25 124199 ENSG00000261557 OTTHUMG00000177035 NG_022963 PGOHUM00000293481 HGNC:37916 +HGNC:37917 EEF1A1P39 eukaryotic translation elongation factor 1 alpha 1 pseudogene 39 pseudogene pseudogene Approved 10p11.23 10p11.23 2010-03-10 2014-11-28 100862850 ENSG00000230125 OTTHUMG00000017887 NG_032140 PGOHUM00000305843 HGNC:37917 +HGNC:37918 EEF1A1P40 eukaryotic translation elongation factor 1 alpha 1 pseudogene 40 pseudogene pseudogene Approved Xq22.3 Xq22.3 2010-03-10 2014-11-28 100874490 ENSG00000231144 OTTHUMG00000022157 NG_032199 PGOHUM00000305241 HGNC:37918 +HGNC:38799 EEF1A1P41 eukaryotic translation elongation factor 1 alpha 1 pseudogene 41 pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-08-05 2016-10-05 100874491 ENSG00000223600 OTTHUMG00000036158 NG_032218 PGOHUM00000305413 HGNC:38799 +HGNC:48927 EEF1A1P42 eukaryotic translation elongation factor 1 alpha 1 pseudogene 42 pseudogene pseudogene Approved 6p12.3 06p12.3 2013-07-10 2015-02-02 442215 ENSG00000277043 OTTHUMG00000014809 NG_022298 PGOHUM00000301368 HGNC:48927 +HGNC:3193 EEF1A1P43 eukaryotic translation elongation factor 1 alpha 1 pseudogene 43 pseudogene pseudogene Approved 17p11.2 17p11.2 EEF1A3 eukaryotic translation elongation factor 1 alpha 3 1998-02-11 2013-07-10 2013-07-10 2013-07-10 1918 NG_032985 11840190 HGNC:3193 +HGNC:56201 EEF1A1P44 eukaryotic translation elongation factor 1 alpha 1 pseudogene 44 pseudogene pseudogene Approved 1q32.1 01q32.1 2022-02-11 2022-02-11 100421840 ENSG00000236468 NG_027185 PGOHUM00000296715 +HGNC:56202 EEF1A1P45 eukaryotic translation elongation factor 1 alpha 1 pseudogene 45 pseudogene pseudogene Approved 3q25.1 03q25.1 2022-02-11 2022-02-11 100421817 ENSG00000244503 NG_025755 PGOHUM00000299624 +HGNC:56203 EEF1A1P46 eukaryotic translation elongation factor 1 alpha 1 pseudogene 46 pseudogene pseudogene Approved 1p35.2 01p35.2 2022-02-11 2022-02-11 441880 ENSG00000215899 NG_022716 PGOHUM00000295613 +HGNC:56204 EEF1A1P47 eukaryotic translation elongation factor 1 alpha 1 pseudogene 47 pseudogene pseudogene Approved 11p14.1 11p14.1 2022-02-11 2022-02-11 401677 ENSG00000255450 NG_021814 PGOHUM00000290857 +HGNC:56205 EEF1A1P48 eukaryotic translation elongation factor 1 alpha 1 pseudogene 48 pseudogene pseudogene Approved 1p36.11 01p36.11 2022-02-11 2022-02-11 729856 ENSG00000229239 NG_029193 PGOHUM00000296247 +HGNC:56206 EEF1A1P49 eukaryotic translation elongation factor 1 alpha 1 pseudogene 49 pseudogene pseudogene Approved 11q14.3 11q14.3 2022-02-11 2022-02-11 642791 ENSG00000255127 NG_030281 PGOHUM00000291098 +HGNC:56207 EEF1A1P50 eukaryotic translation elongation factor 1 alpha 1 pseudogene 50 pseudogene pseudogene Approved 5q31.1 05q31.1 2022-02-11 2022-02-11 100421798 ENSG00000235253 NG_024719 PGOHUM00000301120 +HGNC:3192 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "EEF1AL|HS1" "STNL|STN" "statin-like|statin" 1995-08-15 2021-05-26 1917 ENSG00000101210 OTTHUMG00000033076 uc002yfe.3 AF163763 NM_001958 CCDS13522 Q05639 "8354261|8812466" MGI:1096317 RGD:3781 602959 446538 HGNC:3192 "ENST00000217182.6|NM_001958.5" HGNC:3192 +HGNC:27351 EEF1AKMT1 EEF1A lysine methyltransferase 1 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1 N6AMT2 N-6 adenine-specific DNA methyltransferase 2 (putative) 7BS protein lysine methyltransferases 2056 2006-12-14 2016-01-11 2017-02-21 2021-05-10 221143 ENSG00000150456 OTTHUMG00000016519 uc009zzr.2 AK055408 NM_174928 CCDS9293 Q8WVE0 26545399 MGI:1915293 RGD:1306762 617793 HGNC:27351 "ENST00000382758.6|NM_001318939.2" +HGNC:33787 EEF1AKMT2 EEF1A lysine methyltransferase 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 Efm4 eukaryotic translation elongation factor 1 alpha lysine methyltransferase 2 "C10orf138|METTL10" "chromosome 10 open reading frame 138|methyltransferase like 10" 7BS protein lysine methyltransferases 2056 2008-02-14 2017-02-21 2017-02-21 2021-09-10 399818 ENSG00000203791 OTTHUMG00000019217 uc001lhy.2 NM_212554 CCDS31307 Q5JPI9 25144183 MGI:1919346 RGD:1306300 617794 HGNC:33787 "ENST00000368836.7|NM_212554.4" +HGNC:24936 EEF1AKMT3 EEF1A lysine methyltransferase 3 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 DKFZP586D0919 "FAM119B|METTL21B" "family with sequence similarity 119, member B|methyltransferase like 21B" 7BS protein lysine methyltransferases 2056 2006-05-15 2017-02-10 2017-02-10 2021-09-10 25895 ENSG00000123427 OTTHUMG00000170459 uc001sqg.4 "AL050100|AF455816" NM_015433 "CCDS8957|CCDS31848" Q96AZ1 28108655 MGI:3645330 RGD:1590711 615258 HGNC:24936 "ENST00000300209.13|NM_015433.3" +HGNC:53611 EEF1AKMT4 EEF1A lysine methyltransferase 4 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 7BS protein lysine methyltransferases 2056 2017-07-05 2021-05-10 110599564 ENSG00000284753 NM_032331 CCDS3255 P0DPD7 28520920 MGI:5903914 RGD:7732114 HGNC:53611 "ENST00000324557.9|NM_032331.4" +HGNC:53615 EEF1AKMT4-ECE2 EEF1AKMT4-ECE2 readthrough other readthrough Approved 3q27.1 03q27.1 EEF1AKMT4-ECE2 2017-07-14 2017-08-22 2020-01-21 110599583 ENSG00000284917 OTTHUMG00000192543 NM_014693 CCDS3256 P0DPD8 28520920 HGNC:53615 +HGNC:3208 EEF1B2 eukaryotic translation elongation factor 1 beta 2 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 Small nucleolar RNA protein coding host genes 1835 1995-11-13 2015-09-11 1933 ENSG00000114942 OTTHUMG00000132891 uc002vbg.2 X60489 NM_001037663 CCDS2367 P24534 8250921 MGI:1929520 RGD:1311415 600655 HGNC:3208 "ENST00000392222.7|NM_001959.4" +HGNC:3207 EEF1B2P1 eukaryotic translation elongation factor 1 beta 2 pseudogene 1 pseudogene pseudogene Approved 15q21.2 15q21.2 EEF1B1 eukaryotic translation elongation factor 1 beta 1 1995-11-13 2011-05-26 2011-05-26 2014-11-28 1932 ENSG00000231169 OTTHUMG00000172676 X60656 NG_003045 11597139 PGOHUM00000293243 HGNC:3207 +HGNC:3209 EEF1B2P2 eukaryotic translation elongation factor 1 beta 2 pseudogene 2 pseudogene pseudogene Approved 5q13.1 05q13.1 "BETA-3|EEF-1BETA5A|EEF-1" "EEF1B|EEF1B3" eukaryotic translation elongation factor 1 beta 3 1991-03-11 2011-05-26 2011-05-26 2014-11-28 1934 ENSG00000213864 OTTHUMG00000164190 L26404 NG_003038 8250921 PGOHUM00000300608 HGNC:3209 +HGNC:3210 EEF1B2P3 eukaryotic translation elongation factor 1 beta 2 pseudogene 3 pseudogene pseudogene Approved Xp22.11 Xp22.11 EEF1B4 "eukaryotic translation elongation factor 1 beta 4|eukaryotic translation elongation factor 1 beta 4 (pseudogene)" 1995-11-13 2011-05-26 2011-05-26 2011-05-26 644820 ENSG00000232472 OTTHUMG00000021274 NG_008008 8250921 HGNC:3210 +HGNC:32475 EEF1B2P4 eukaryotic translation elongation factor 1 beta 2 pseudogene 4 pseudogene pseudogene Approved 12q23.3 12q23.3 2011-05-26 2011-05-26 2014-11-28 100130631 ENSG00000257119 OTTHUMG00000170035 NG_021699 PGOHUM00000291456 HGNC:32475 +HGNC:32476 EEF1B2P5 eukaryotic translation elongation factor 1 beta 2 pseudogene 5 pseudogene pseudogene Approved 6q12 06q12 2011-05-26 2014-11-28 442227 ENSG00000225121 OTTHUMG00000014947 NG_029026 PGOHUM00000301833 HGNC:32476 +HGNC:51453 EEF1B2P6 eukaryotic translation elongation factor 1 beta 2 pseudogene 6 pseudogene pseudogene Approved 7q32.3 07q32.3 2014-11-28 2014-11-28 647030 ENSG00000213261 OTTHUMG00000155056 NG_022904 PGOHUM00000302428 HGNC:51453 +HGNC:51454 EEF1B2P7 eukaryotic translation elongation factor 1 beta 2 pseudogene 7 pseudogene pseudogene Approved 2q37.1 02q37.1 2014-11-28 2014-11-28 100421756 ENSG00000213055 OTTHUMG00000153290 NG_023672 PGOHUM00000298353 HGNC:51454 +HGNC:51455 EEF1B2P8 eukaryotic translation elongation factor 1 beta 2 pseudogene 8 pseudogene pseudogene Approved 3q26.31 03q26.31 2014-11-28 2014-11-28 100421774 ENSG00000230497 OTTHUMG00000157119 NG_025661 PGOHUM00000299274 HGNC:51455 +HGNC:3211 EEF1D eukaryotic translation elongation factor 1 delta protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "EF-1D|FLJ20897" eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 1994-05-16 2016-01-18 2016-10-05 1936 ENSG00000104529 OTTHUMG00000165191 uc064rak.1 AK024550 NM_032378 "CCDS47930|CCDS56559|CCDS6404|CCDS6405" P29692 8334168 MGI:1913906 RGD:621174 130592 HGNC:3211 "ENST00000618139.4|NM_001130053.5" +HGNC:32474 EEF1DP1 eukaryotic translation elongation factor 1 delta pseudogene 1 pseudogene pseudogene Approved 19p13.12 19p13.12 2007-07-18 2014-11-28 126037 ENSG00000228887 OTTHUMG00000181993 NG_006512 PGOHUM00000295214 HGNC:32474 +HGNC:33523 EEF1DP2 eukaryotic translation elongation factor 1 delta pseudogene 2 pseudogene pseudogene Approved 9q22.31 09q22.31 2007-07-18 2014-11-28 442429 ENSG00000226721 OTTHUMG00000020238 NG_006527 PGOHUM00000303989 HGNC:33523 +HGNC:30486 EEF1DP3 eukaryotic translation elongation factor 1 delta pseudogene 3 pseudogene pseudogene Approved 13q13.1 13q13.1 2007-07-18 2014-11-28 196549 ENSG00000229715 OTTHUMG00000016691 NR_027062 Q658K8 12477932 PGOHUM00000292123 HGNC:30486 +HGNC:22598 EEF1DP4 eukaryotic translation elongation factor 1 delta pseudogene 4 pseudogene pseudogene Approved 7q11.21 07q11.21 FLJ26697 2007-07-18 2014-11-28 442325 ENSG00000213640 OTTHUMG00000156600 NG_006526 PGOHUM00000302745 HGNC:22598 +HGNC:33524 EEF1DP5 eukaryotic translation elongation factor 1 delta pseudogene 5 pseudogene pseudogene Approved 6q22.33 06q22.33 2007-07-18 2014-11-28 442258 ENSG00000213130 OTTHUMG00000015541 NG_006525 PGOHUM00000301537 HGNC:33524 +HGNC:51456 EEF1DP6 eukaryotic translation elongation factor 1 delta pseudogene 6 pseudogene pseudogene Approved 1p36.32 01p36.32 2014-11-28 2014-11-28 644357 ENSG00000229280 OTTHUMG00000000732 NG_006533 PGOHUM00000295534 HGNC:51456 +HGNC:51457 EEF1DP7 eukaryotic translation elongation factor 1 delta pseudogene 7 pseudogene pseudogene Approved 17q23.3 17q23.3 2014-11-28 2014-11-28 100422656 ENSG00000263883 OTTHUMG00000178906 NG_026262 PGOHUM00000294515 HGNC:51457 +HGNC:51458 EEF1DP8 eukaryotic translation elongation factor 1 delta pseudogene 8 pseudogene pseudogene Approved 11q12.3 11q12.3 2014-11-28 2014-11-28 283236 ENSG00000236607 OTTHUMG00000167503 NG_006515 PGOHUM00000290994 HGNC:51458 +HGNC:3212 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 AIMP3 "aminoacyl tRNA synthetase complex-interacting multifunctional protein 3|multisynthetase complex auxiliary component p18" P18 "Small nucleolar RNA protein coding host genes|Aminoacyl tRNA synthetase complex interacting multifunctional proteins" "1835|2116" 1999-07-22 2021-11-05 9521 ENSG00000124802 OTTHUMG00000014221 uc003mxz.4 AF054186 NM_004280 "CCDS4507|CCDS47370" O43324 "9653160|19024604" MGI:1913393 RGD:1311056 609206 HGNC:3212 "ENST00000379715.10|NM_004280.5" +HGNC:49187 EEF1E1-BLOC1S5 EEF1E1-BLOC1S5 readthrough (NMD candidate) other readthrough Approved 6p24.3 06p24.3 2013-09-25 2013-09-25 100526837 ENSG00000265818 OTTHUMG00000179299 NR_037618 HGNC:49187 +HGNC:51459 EEF1E1P1 eukaryotic translation elongation factor 1 epsilon 1 pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 2014-11-28 2014-11-28 100130388 ENSG00000236307 OTTHUMG00000153261 NG_008760 PGOHUM00000298643 HGNC:51459 +HGNC:3213 EEF1G eukaryotic translation elongation factor 1 gamma protein-coding gene gene with protein product Approved 11q12.3 11q12.3 EF1G MicroRNA protein coding host genes 1691 1992-08-07 2015-09-11 1937 ENSG00000254772 OTTHUMG00000167567 uc001ntm.2 X63526 NM_001404 CCDS44626 P26641 "1598220|1461723" MGI:1914410 RGD:1302939 130593 HGNC:3213 "ENST00000329251.5|NM_001404.5" +HGNC:44556 EEF1GP1 eukaryotic translation elongation factor 1 gamma pseudogene 1 pseudogene pseudogene Approved 7q31.33 07q31.33 2012-11-15 2014-11-28 646837 ENSG00000186676 OTTHUMG00000157167 NG_009408 PGOHUM00000302916 HGNC:44556 +HGNC:44557 EEF1GP2 eukaryotic translation elongation factor 1 gamma pseudogene 2 pseudogene pseudogene Approved 5q32 05q32 2012-11-15 2014-11-28 100130260 ENSG00000250346 OTTHUMG00000163421 NG_021900 PGOHUM00000301156 HGNC:44557 +HGNC:44558 EEF1GP3 eukaryotic translation elongation factor 1 gamma pseudogene 3 pseudogene pseudogene Approved 3p22.1 03p22.1 2012-11-15 2014-11-28 651628 ENSG00000226845 OTTHUMG00000156007 NG_022201 PGOHUM00000299007 HGNC:44558 +HGNC:44559 EEF1GP4 eukaryotic translation elongation factor 1 gamma pseudogene 4 pseudogene pseudogene Approved 3q26.1 03q26.1 2012-11-15 2014-11-28 100129403 ENSG00000240138 OTTHUMG00000159071 NG_022225 PGOHUM00000299253 HGNC:44559 +HGNC:44560 EEF1GP5 eukaryotic translation elongation factor 1 gamma pseudogene 5 pseudogene pseudogene Approved Xq23 Xq23 2012-11-15 2014-11-28 642357 ENSG00000234785 OTTHUMG00000022238 NG_022907 PGOHUM00000305265 HGNC:44560 +HGNC:44561 EEF1GP6 eukaryotic translation elongation factor 1 gamma pseudogene 6 pseudogene pseudogene Approved 6q16.1 06q16.1 2012-11-15 2014-11-28 100421733 ENSG00000216518 OTTHUMG00000015243 NG_025966 PGOHUM00000301893 HGNC:44561 +HGNC:44562 EEF1GP7 eukaryotic translation elongation factor 1 gamma pseudogene 7 pseudogene pseudogene Approved 1p32.3 01p32.3 2012-11-15 2014-11-28 645311 ENSG00000236290 OTTHUMG00000008321 NG_022779 PGOHUM00000296332 HGNC:44562 +HGNC:44563 EEF1GP8 eukaryotic translation elongation factor 1 gamma pseudogene 8 pseudogene pseudogene Approved 4q28.2 04q28.2 2012-11-15 2014-11-28 391698 ENSG00000234125 OTTHUMG00000161195 NG_022079 PGOHUM00000300374 HGNC:44563 +HGNC:3214 EEF2 eukaryotic translation elongation factor 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 EEF-2 polypeptidyl-tRNA translocase EF2 Small nucleolar RNA protein coding host genes 1835 1991-03-11 2015-09-11 1938 ENSG00000167658 OTTHUMG00000181790 uc002lze.4 Z11692 NM_001961 CCDS12117 P13639 "2610926|6427766" MGI:95288 RGD:61979 130610 370413 objectId:2756 HGNC:3214 "ENST00000309311.7|NM_001961.4" HGNC:3214 +HGNC:24615 EEF2K eukaryotic elongation factor 2 kinase protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "eEF-2K|CaMKIII" Calmodulin dependent protein kinases 1630 2004-07-05 2014-11-17 2018-06-04 29904 ENSG00000103319 OTTHUMG00000094771 uc002dki.4 U93850 NM_013302 CCDS10604 O00418 "9144159|12051769" MGI:1195261 RGD:2538 606968 objectId:2014 HGNC:24615 "ENST00000263026.10|NM_013302.5" +HGNC:32221 EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SB153|MGC19636|EFM3" FAM86A family with sequence similarity 86, member A 7BS protein lysine methyltransferases 2056 2005-08-19 2014-11-17 2014-11-17 2017-02-22 196483 ENSG00000118894 OTTHUMG00000129527 BC010084 NM_201400 "CCDS10530|CCDS10529|CCDS73823" Q96G04 25231979 MGI:1917761 RGD:1304969 615263 HGNC:32221 "ENST00000427587.9|NM_201400.4" +HGNC:24614 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "SELB|EFSEC" "elongation factor for selenoprotein translation|selenocysteine (Sec)-specific eukaryotic elongation factor" 2005-04-08 2016-05-23 2020-04-30 60678 ENSG00000132394 OTTHUMG00000159659 uc003eki.4 NM_021937 CCDS33849 P57772 "10970870|15229221" MGI:2137092 RGD:1560552 607695 HGNC:24614 "ENST00000254730.11|NM_021937.5" +HGNC:22223 EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 KIAA1706 2007-12-07 2007-12-07 2017-02-20 80820 ENSG00000122547 OTTHUMG00000154904 uc003tfa.4 AK027386 NM_030636 CCDS34619 Q7L9B9 26684013 MGI:1914734 RGD:1307401 617192 HGNC:22223 "ENST00000242108.9|NM_030636.3" +HGNC:28166 EFCAB2 EF-hand calcium binding domain 2 protein-coding gene gene with protein product Approved 1q44 01q44 "MGC12458|DRC8|CFAP200" dynein regulatory complex subunit 8 "EF-hand domain containing|Dynein regulatory complex|Cilia and flagella associated" "863|981|1491" 2005-07-25 2015-08-25 84288 ENSG00000203666 OTTHUMG00000040474 uc001ibc.3 AB209286 NM_001143943 "CCDS44341|CCDS31082" Q5VUJ9 23427265 MGI:1915476 RGD:1308593 619617 HGNC:28166 "ENST00000366523.6|NM_032328.4" +HGNC:26379 EFCAB3 EF-hand calcium binding domain 3 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 FLJ25818 EF-hand domain containing 863 2006-02-13 2016-10-05 146779 ENSG00000172421 OTTHUMG00000179175 uc002izu.3 AK098684 NM_173503 "CCDS45751|CCDS11632" Q8N7B9 12477932 MGI:1918144 RGD:1305423 619567 HGNC:26379 "ENST00000305286.8|NM_173503.4" +HGNC:24801 EFCAB5 EF-hand calcium binding domain 5 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FLJ46247 EF-hand domain containing 863 2006-04-21 2015-08-04 374786 ENSG00000176927 OTTHUMG00000179743 uc002het.3 AL833911 NM_198529 "CCDS11254|CCDS54103" A4FU69 MGI:2442440 RGD:1309650 HGNC:24801 "ENST00000394835.8|NM_198529.4" +HGNC:24204 EFCAB6 EF-hand calcium binding domain 6 protein-coding gene gene with protein product Approved 22q13.2-q13.31 22q13.2-q13.31 "FLJ23588|DJBP|HSCBCIP1|KIAA1672|dJ185D5.1" EF-hand domain containing 863 2007-06-07 2018-02-13 64800 ENSG00000186976 OTTHUMG00000150522 uc003bdy.3 Z82201 NM_022785 "CCDS14050|CCDS14049" Q5THR3 "11258795|12612053" MGI:1924877 RGD:1309065 619664 HGNC:24204 "ENST00000262726.12|NM_022785.4" +HGNC:39999 EFCAB6-AS1 EFCAB6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 CITF22-123F2.1 EFCAB6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2018-06-28 100874197 ENSG00000223843 OTTHUMG00000150523 uc031rxy.2 NR_046563 EFCAB6-AS1 HGNC:39999 +HGNC:55371 EFCAB6-DT EFCAB6 divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Divergent transcripts 1990 2020-11-11 2020-11-11 107985564 ENSG00000261251 +HGNC:29379 EFCAB7 EF-hand calcium binding domain 7 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA1799|RP4-534K7.1" EF-hand domain containing 863 2007-12-06 2014-11-19 84455 ENSG00000203965 OTTHUMG00000008983 uc001dbf.4 BC015814 NM_032437 CCDS30737 A8K855 11347906 MGI:2385199 RGD:1561825 617632 HGNC:29379 "ENST00000371088.5|NM_032437.4" +HGNC:34532 EFCAB8 EF-hand calcium binding domain 8 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 EF-hand domain containing 863 2008-09-24 2018-11-15 388795 ENSG00000215529 OTTHUMG00000153693 uc061wfj.1 NM_001143967 A8MWE9 MGI:3644206 RGD:1597364 HGNC:34532 "ENST00000400522.9|NM_001143967.2" +HGNC:34530 EFCAB9 EF-hand calcium binding domain 9 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 EF-hand domain containing 863 2008-09-24 2013-01-10 285588 ENSG00000214360 OTTHUMG00000163271 uc021yhr.2 NM_001171183 CCDS54946 A8MZ26 MGI:1916556 RGD:1588807 618520 HGNC:34530 "ENST00000398186.5|NM_001171183.2" +HGNC:34531 EFCAB10 EF-hand calcium binding domain 10 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 EF-hand domain containing 863 2008-09-25 2017-11-23 100130771 ENSG00000185055 OTTHUMG00000157397 uc003vdc.5 BC105284 NM_001355531 "CCDS87538|CCDS87535|CCDS87536|CCDS87537" A6NFE3 MGI:1922290 RGD:1307943 HGNC:34531 "ENST00000480514.6|NM_001355526.2" +HGNC:20357 EFCAB11 EF-hand calcium binding domain 11 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 C14orf143 chromosome 14 open reading frame 143 EF-hand domain containing 863 2003-01-28 2011-01-31 2011-01-31 2014-11-18 90141 ENSG00000140025 OTTHUMG00000148671 uc001xxt.5 AK094740 NM_145231 "CCDS61523|CCDS61522|CCDS61525|CCDS61524|CCDS9887" Q9BUY7 MGI:1926017 RGD:1565006 HGNC:20357 "ENST00000316738.12|NM_145231.4" +HGNC:28061 EFCAB12 EF-hand calcium binding domain 12 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 C3orf25 chromosome 3 open reading frame 25 EF-hand domain containing 863 2005-11-15 2012-07-20 2012-07-20 2013-01-10 90288 ENSG00000172771 OTTHUMG00000159464 uc003emg.3 AK096099 NM_207307 CCDS54638 Q6NXP0 MGI:2681834 RGD:1586985 HGNC:28061 "ENST00000505956.6|NM_207307.3" +HGNC:26864 EFCAB13 EF-hand calcium binding domain 13 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 FLJ40342 C17orf57 chromosome 17 open reading frame 57 EF-hand domain containing 863 2005-12-20 2012-07-20 2012-07-20 2015-08-27 124989 ENSG00000178852 OTTHUMG00000164767 uc002iln.4 BC036407 NM_152347 "CCDS56034|CCDS11512" Q8IY85 MGI:3651790 RGD:2318166 HGNC:26864 "ENST00000331493.7|NM_152347.5" +HGNC:55338 EFCAB13-DT EFCAB13 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 THCAT158 thyroid cancer-associated transcript 158 Divergent transcripts 1990 2020-10-21 2020-10-21 102724508 ENSG00000263293 NR_110880 +HGNC:29051 EFCAB14 EF-hand calcium binding domain 14 protein-coding gene gene with protein product Approved 1p33 01p33 KIAA0494 KIAA0494 EF-hand domain containing 863 2005-07-29 2012-11-29 2012-11-29 2014-11-19 9813 ENSG00000159658 OTTHUMG00000007992 uc001cqk.4 AB007963 NM_014774 CCDS30706 O75071 9455484 MGI:2442397 RGD:1310351 619559 HGNC:29051 "ENST00000371933.8|NM_014774.3" +HGNC:44108 EFCAB14-AS1 EFCAB14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 KIAA0494-AS1 "KIAA0494 antisense RNA 1 (non-protein coding)|KIAA0494 antisense RNA 1" Antisense RNAs 1987 2012-06-22 2012-11-29 2012-11-29 2012-11-29 100130197 ENSG00000228237 OTTHUMG00000007993 uc021ond.2 BX113937 NR_038827 EFCAB14-AS1 HGNC:44108 +HGNC:44648 EFCAB14P1 EF-hand calcium binding domain 14 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 2012-11-29 2012-11-29 106479047 ENSG00000228348 OTTHUMG00000004161 NG_044476 PGOHUM00000244668 HGNC:44648 +HGNC:55140 EFCAB15P EF-hand calcium binding domain 15, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2020-07-08 2020-07-08 118568824 ENSG00000233483 MGI:1916691 +HGNC:25692 EFCC1 EF-hand and coiled-coil domain containing 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 FLJ12057 "C3orf73|CCDC48" "chromosome 3 open reading frame 73|coiled-coil domain containing 48" EF-hand domain containing 863 2005-12-19 2013-01-11 2013-01-11 2016-04-25 79825 ENSG00000114654 OTTHUMG00000158996 uc011bkt.2 AK022119 NM_024768 CCDS3054 Q9HA90 MGI:3611451 RGD:1596494 HGNC:25692 "ENST00000683648.1|NM_001377500.1" +HGNC:3218 EFEMP1 EGF containing fibulin extracellular matrix protein 1 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "S1-5|FBLN3|MTLV" fibulin 3 "DHRD|FBNL" "fibrillin-like|EGF-containing fibulin-like extracellular matrix protein 1|EGF containing fibulin like extracellular matrix protein 1" Fibulins 556 1996-04-30 2017-10-12 2021-05-26 2202 ENSG00000115380 OTTHUMG00000129343 uc002rzj.4 U03877 NM_001039348 CCDS1857 Q12805 "8812496|7799918" MGI:1339998 RGD:1308528 Mutations of the EGF-containing fibulin-like extracellular matrix protein 1|http://www.retina-international.org/files/sci-news/efempmut.htm 601548 121292 HGNC:3218 "ENST00000355426.8|NM_001039348.3" HGNC:3218 +HGNC:3219 EFEMP2 EGF containing fibulin extracellular matrix protein 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FBLN4|UPH1" fibulin 4 "EGF-containing fibulin-like extracellular matrix protein 2|EGF containing fibulin like extracellular matrix protein 2" Fibulins 556 2000-03-01 2017-10-12 2021-05-26 30008 ENSG00000172638 OTTHUMG00000166664 uc001ofy.5 AF109121 NM_016938 CCDS8116 O95967 "10601734|10982184" MGI:1891209 RGD:1359496 604633 121299 HGNC:3219 "ENST00000307998.11|NM_016938.5" HGNC:3219 +HGNC:26330 EFHB EF-hand domain family member B protein-coding gene gene with protein product Approved 3p24.3 03p24.3 "FLJ25200|CFAP21" cilia and flagella associated protein 21 EF-hand domain family, member B "EF-hand domain containing|Cilia and flagella associated" "863|1491" 2005-01-25 2015-11-18 2019-02-20 151651 ENSG00000163576 OTTHUMG00000150505 uc003cbl.5 AK122616 NM_144715 "CCDS33715|CCDS82744" Q8N7U6 30481768 MGI:3045296 RGD:1566407 HGNC:26330 "ENST00000295824.14|NM_144715.4" +HGNC:16406 EFHC1 EF-hand domain containing 1 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "FLJ10466|RIB72|POC9" myoclonin-1 "EJM1|EJM" "epilepsy, juvenile myoclonic 1|EF-hand domain (C-terminal) containing 1" EF-hand domain containing 863 2001-08-21 2016-04-06 2020-01-28 114327 ENSG00000096093 OTTHUMG00000014848 uc003pap.5 AK001328 NM_018100 "CCDS4942|CCDS55021" Q5JVL4 15258581 MGI:1919127 RGD:1587365 608815 121303 HGNC:16406 "ENST00000371068.11|NM_018100.4" HGNC:16406 +HGNC:26233 EFHC2 EF-hand domain containing 2 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 FLJ22843 MRX74 "mental retardation, X-linked 74|EF-hand domain (C-terminal) containing 2" EF-hand domain containing 863 2004-09-02 2016-04-06 2020-04-02 80258 ENSG00000183690 OTTHUMG00000021393 uc004dgb.5 AK026254 NM_025184 CCDS55405 Q5JST6 17221867 MGI:1921655 RGD:1563388 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EFHC2 300817 HGNC:26233 "ENST00000420999.2|NM_025184.4" +HGNC:29556 EFHD1 EF-hand domain family member D1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 FLJ13612 swiprosin-2 EF hand domain containing 1 EF-hand domain containing 863 2004-01-29 2015-11-05 2015-11-05 80303 ENSG00000115468 OTTHUMG00000133263 uc002vtc.4 NM_025202 "CCDS2497|CCDS82580|CCDS58755" Q9BUP0 21244694 MGI:1921607 RGD:1559565 611617 HGNC:29556 "ENST00000264059.8|NM_025202.4" +HGNC:28670 EFHD2 EF-hand domain family member D2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 MGC4342 swiprosin-1 EF hand domain containing 2 EF-hand domain containing 863 2004-01-29 2015-11-05 2016-10-05 79180 ENSG00000142634 OTTHUMG00000002254 uc001awh.2 BC014923 NM_024329 CCDS155 Q96C19 21244694 MGI:106504 RGD:1307585 616450 470258 HGNC:28670 "ENST00000375980.9|NM_024329.6" +HGNC:55801 EFHD2-AS1 EFHD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 Antisense RNAs 1987 2021-07-29 2021-07-29 101927441 ENSG00000228140 XR_007065479 +HGNC:25789 EFL1 elongation factor like GTPase 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ13119|FAM42A|HsT19294|RIA1" ribosome assembly 1 homolog (yeast) EFTUD1 elongation factor Tu GTP binding domain containing 1 Ribosomal biogenesis factors 1729 2004-07-01 2016-01-05 2016-01-05 2021-05-26 79631 ENSG00000140598 OTTHUMG00000172573 uc002bgt.2 AK056656 NM_024580 "CCDS42071|CCDS42070" Q7Z2Z2 "14702039|21536732" MGI:2141969 RGD:1306521 617538 HGNC:25789 "ENST00000268206.12|NM_024580.6" HGNC:25789 +HGNC:31739 EFL1P1 elongation factor like GTPase 1 pseudogene 1 pseudogene pseudogene Approved 15q25.2 15q25.2 HsT19321 similar to hypothetical protein FLJ13119 "FAM42B|EFTUD1P1" "family with sequence similarity 42, member B|elongation factor Tu GTP binding domain containing 1 pseudogene 1" 2004-06-29 2017-11-22 2017-11-22 2020-04-20 648809 ENSG00000259404 OTTHUMG00000172493 NR_036652 PGOHUM00000293326 HGNC:31739 +HGNC:44202 EFL1P2 elongation factor like GTPase 1 pseudogene 2 pseudogene pseudogene Approved 4q13.1 04q13.1 EFTUD1P2 elongation factor Tu GTP binding domain containing 1 pseudogene 2 2012-07-04 2017-11-22 2017-11-22 2017-11-22 100422019 ENSG00000248998 OTTHUMG00000160702 NG_025113 PGOHUM00000299849 HGNC:44202 +HGNC:3221 EFNA1 ephrin A1 protein-coding gene gene with protein product Approved 1q22 01q22 "LERK1|ECKLG|GMAN" "EPH-related receptor tyrosine kinase ligand 1|Tumor necrosis factor alpha-induced protein 4|gastric cancer metastasis associated long noncoding RNA" "TNFAIP4|EPLG1" ephrin-A1 Ephrins 546 1992-10-20 2016-04-05 2020-01-10 1942 ENSG00000169242 OTTHUMG00000035312 uc001fhh.4 NM_004428 "CCDS1091|CCDS1092" P20827 "2233719|8660976" MGI:103236 RGD:620388 191164 ligandId:4908 HGNC:3221 "ENST00000368407.8|NM_004428.3" +HGNC:3222 EFNA2 ephrin A2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ELF-1|LERK6" EPH-related receptor tyrosine kinase ligand 6 EPLG6 ephrin-A2 Ephrins 546 1995-05-10 2016-04-05 2019-08-01 1943 ENSG00000099617 OTTHUMG00000180148 uc002lry.3 NM_001405 CCDS12061 O43921 MGI:102707 RGD:620389 602756 ligandId:4909 HGNC:3222 "ENST00000215368.4|NM_001405.4" +HGNC:3223 EFNA3 ephrin A3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "LERK3|Ehk1-L" EPH-related receptor tyrosine kinase ligand 3 EPLG3 ephrin-A3 Ephrins 546 1995-01-17 2016-04-05 2019-08-01 1944 ENSG00000143590 OTTHUMG00000035313 uc001fhf.3 BC017722 NM_004952 CCDS1090 P52797 8660976 MGI:106644 RGD:620390 601381 ligandId:4910 HGNC:3223 "ENST00000368408.4|NM_004952.5" +HGNC:3224 EFNA4 ephrin A4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LERK4 EPH-related receptor tyrosine kinase ligand 4 EPLG4 ephrin-A4 Ephrins 546 1995-01-17 2016-04-05 2019-08-01 1945 ENSG00000243364 OTTHUMG00000035309 uc001fhd.4 AJ006352 NM_005227 "CCDS44237|CCDS1089|CCDS41407" P52798 8660976 MGI:106643 RGD:1307808 601380 ligandId:4911 HGNC:3224 "ENST00000368409.8|NM_005227.3" +HGNC:3225 EFNA5 ephrin A5 protein-coding gene gene with protein product Approved 5q21.3 05q21.3 "AF1|LERK7" EPH-related receptor tyrosine kinase ligand 7 EPLG7 ephrin-A5 Ephrins 546 1995-05-10 2016-04-05 2019-08-01 1946 ENSG00000184349 OTTHUMG00000128741 uc003kol.3 U26403 NM_001962 CCDS4097 P52803 "8661153|9245480" MGI:107444 RGD:620391 601535 ligandId:4912 HGNC:3225 "ENST00000333274.11|NM_001962.3" +HGNC:3226 EFNB1 ephrin B1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "LERK2|Elk-L" EPH-related receptor tyrosine kinase ligand 2 "EPLG2|CFNS" "craniofrontonasal syndrome (craniofrontonasal dysplasia)|ephrin-B1" Ephrins 546 1995-01-17 2016-04-05 2021-05-26 1947 ENSG00000090776 OTTHUMG00000021751 uc004dxd.5 U09303 NM_004429 CCDS14391 P98172 "7774950|16526919" MGI:102708 RGD:2540 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EFNB1 300035 121305 ligandId:4913 HGNC:3226 "ENST00000204961.5|NM_004429.5" HGNC:3226 +HGNC:3227 EFNB2 ephrin B2 protein-coding gene gene with protein product Approved 13q33.3 13q33.3 "LERK5|Htk-L|HTKL|MGC126226|MGC126227|MGC126228" "HTK ligand|ligand of eph-related kinase 5|eph-related receptor tyrosine kinase ligand 5" EPLG5 ephrin-B2 Ephrins 546 1995-01-17 2016-04-05 2016-10-05 1948 ENSG00000125266 OTTHUMG00000017324 uc001vqi.4 L38734 NM_004093 CCDS9507 P52799 7833926 MGI:105097 RGD:1309497 600527 ligandId:4914 HGNC:3227 "ENST00000646441.1|NM_004093.4" +HGNC:3228 EFNB3 ephrin B3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 LERK-8 EPH-related receptor tyrosine kinase ligand 8 EPLG8 ephrin-B3 Ephrins 546 1996-03-13 2016-04-05 2019-08-01 1949 ENSG00000108947 OTTHUMG00000108161 uc002gis.4 U57001 NM_001406 CCDS11120 Q15768 9126477 MGI:109196 RGD:2541 602297 ligandId:4915 HGNC:3228 "ENST00000226091.3|NM_001406.4" +HGNC:28970 EFR3A EFR3 homolog A protein-coding gene gene with protein product Approved 8q24.22 08q24.22 KIAA0143 EFR3 homolog A (S. cerevisiae) Armadillo like helical domain containing 1492 2007-11-14 2015-07-02 2015-08-27 23167 ENSG00000132294 OTTHUMG00000150552 uc003yte.4 D63477 NM_015137 "CCDS34942|CCDS83328" Q14156 15363888 MGI:1923990 RGD:1305976 611798 HGNC:28970 "ENST00000254624.10|NM_015137.6" +HGNC:29155 EFR3B EFR3 homolog B protein-coding gene gene with protein product Approved 2p23.3 02p23.3 FLJ37871 KIAA0953 "KIAA0953|EFR3 homolog B (S. cerevisiae)" Armadillo like helical domain containing 1492 2004-01-14 2007-11-14 2015-07-02 2016-10-05 22979 ENSG00000084710 OTTHUMG00000151988 uc010eyh.4 AB023170 NM_014971 "CCDS46231|CCDS82425" Q9Y2G0 10231032 MGI:2444851 RGD:1310845 616797 HGNC:29155 "ENST00000403714.8|NM_014971.2" +HGNC:16898 EFS embryonal Fyn-associated substrate protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "EFS2|EFS1|HEFS|SIN|CASS3" Cas scaffolding protein family member 3 Cas scaffold proteins 469 2003-01-29 2015-01-28 10278 ENSG00000100842 OTTHUMG00000028741 uc001wjo.5 AB001466 NM_001277174 "CCDS9595|CCDS61404|CCDS9596" O43281 9349509 MGI:105311 RGD:1308966 609906 HGNC:16898 "ENST00000216733.8|NM_005864.4" +HGNC:30858 EFTUD2 elongation factor Tu GTP binding domain containing 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "U5-116KD|Snrp116|Snu114|SNRNP116" "U5 snRNP specific protein, 116 kD|116 kDa U5 small nuclear ribonucleoprotein component" "U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1503|1508|1510|1516" 2005-07-26 2021-05-26 9343 ENSG00000108883 OTTHUMG00000179865 uc002ihn.3 D21163 NM_004247 "CCDS11489|CCDS59295|CCDS45707" Q15029 9233818 MGI:1336880 RGD:1560116 603892 292410 HGNC:30858 "ENST00000426333.7|NM_004247.4" HGNC:30858 +HGNC:3229 EGF epidermal growth factor protein-coding gene gene with protein product Approved 4q25 04q25 Pro-epidermal growth factor epidermal growth factor (beta-urogastrone) 2001-06-22 2010-05-11 2021-09-22 1950 ENSG00000138798 OTTHUMG00000132044 uc003hzy.5 X04571 NM_001178130 "CCDS54795|CCDS54794|CCDS3689" P01133 MGI:95290 RGD:2542 131530 201089 ligandId:4916 HGNC:3229 "ENST00000265171.10|NM_001963.6" HGNC:3229 +HGNC:25149 EGFEM1P EGF like and EMI domain containing 1, pseudogene pseudogene pseudogene Approved 3q26.2 03q26.2 "C3orf50|NCRNA00259" "chromosome 3 open reading frame 50|non-protein coding RNA 259|EGF-like and EMI domain containing 1, pseudogene" 2006-01-16 2010-09-24 2016-01-21 2016-01-21 93556 ENSG00000206120 OTTHUMG00000154721 AF086185 NR_021485 Q0D2K5 12477932 MGI:1922990 HGNC:25149 +HGNC:3235 EGFL6 EGF like domain multiple 6 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MAEG "MAM and EGF domain containing|EGF-like-domain, multiple 6" MicroRNA protein coding host genes 1691 2000-01-28 2016-01-21 2020-04-02 25975 ENSG00000198759 OTTHUMG00000021155 uc004cvi.4 AF186084 NM_015507 "CCDS14155|CCDS55370" Q8IUX8 10610727 MGI:1858599 RGD:1563321 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EGFL6 300239 HGNC:3235 "ENST00000361306.6|NM_015507.4" +HGNC:20594 EGFL7 EGF like domain multiple 7 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 ZNEU1 EGF-like-domain, multiple 7 MicroRNA protein coding host genes 1691 2003-05-21 2016-01-21 2016-01-21 51162 ENSG00000172889 OTTHUMG00000020938 uc004cid.3 AF186111 NM_016215 CCDS7002 Q9UHF1 MGI:2449923 RGD:708507 608582 HGNC:20594 "ENST00000308874.12|NM_016215.5" +HGNC:13944 EGFL8 EGF like domain multiple 8 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 NG3 C6orf8 "chromosome 6 open reading frame 8|EGF-like-domain, multiple 8" 2002-08-02 2003-05-23 2016-01-21 2016-10-05 80864 ENSG00000241404 OTTHUMG00000031222 uc011jqg.2 U89336 NM_030652 CCDS4743 Q99944 MGI:1932094 RGD:1549706 609897 HGNC:13944 "ENST00000333845.11|NM_030652.4" +HGNC:26810 EGFLAM EGF like, fibronectin type III and laminin G domains protein-coding gene gene with protein product Approved 5p13.2-p13.1 05p13.2-p13.1 "FLJ39155|AGRINL|AGRNL|PIKA" "pikachurin|agrin-like" EGF-like, fibronectin type III and laminin G domains Fibronectin type III domain containing 555 2006-07-19 2016-01-21 2018-02-13 133584 ENSG00000164318 OTTHUMG00000131139 uc003jlb.3 AK097549 NM_152403 "CCDS47199|CCDS56363|CCDS3924|CCDS3925" Q63HQ2 "18641643|20078962|22760553" MGI:2146149 RGD:1306592 617683 HGNC:26810 "ENST00000322350.10|NM_152403.4" +HGNC:41169 EGFLAM-AS1 EGFLAM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 "lncRNA-LOWEG|CTD-2108O9.1" lncRNA low expressed in gastric cancer EGFLAM antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2018-06-20 100874117 ENSG00000249491 OTTHUMG00000162101 uc063dcp.1 NR_046737 "26537802|29603493" EGFLAM-AS1 +HGNC:41168 EGFLAM-AS2 EGFLAM antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5p13.2-p13.1 05p13.2-p13.1 EGFLAM antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2018-02-13 100506475 ENSG00000248572 OTTHUMG00000162115 uc031sjf.2 NR_102749 EGFLAM-AS2 HGNC:41168 +HGNC:41167 EGFLAM-AS3 EGFLAM antisense RNA 3 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 EGFLAM antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100874116 ENSG00000249071 OTTHUMG00000162108 uc063dcn.1 EGFLAM-AS3 +HGNC:41166 EGFLAM-AS4 EGFLAM antisense RNA 4 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 EGFLAM antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100852408 ENSG00000248730 OTTHUMG00000162114 uc031sje.2 BC014585 NR_046219 EGFLAM-AS4 HGNC:41166 +HGNC:3236 EGFR epidermal growth factor receptor protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "ERBB1|ERRP" "erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)|erb-b2 receptor tyrosine kinase 1" ERBB epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog) Erb-b2 receptor tyrosine kinases 1096 1986-01-01 2010-06-25 2021-05-26 1956 ENSG00000146648 OTTHUMG00000023661 uc003tqk.4 NM_005228 "CCDS5515|CCDS47587|CCDS87507|CCDS87506|CCDS5516|CCDS5514" P00533 1505215 MGI:95294 RGD:2543 LRG_304|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_304.xml EGFR 131550 121311 objectId:1797 HGNC:3236 "ENST00000275493.7|NM_005228.5" HGNC:3236 +HGNC:40207 EGFR-AS1 EGFR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Antisense RNAs 1987 2012-11-06 2017-09-21 100507500 ENSG00000224057 OTTHUMG00000156126 uc003tqo.5 NR_047551 "26271667|28920960" EGFR-AS1 HGNC:40207 +HGNC:54482 EGILA EGFR interacting lncRNA non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Lnc-EGFR Long non-coding RNAs with non-systematic symbols 1992 2019-09-27 2020-01-21 116435281 ENSG00000258451 NR_174964 28541302 +HGNC:1232 EGLN1 egl-9 family hypoxia inducible factor 1 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "SM-20|PHD2|ZMYND6|HIFPH2" HIF prolyl hydroxylase 2 C1orf12 "EGL nine (C.elegans) homolog 1|egl nine homolog 1 (C. elegans)|egl-9 family hypoxia-inducible factor 1" Zinc fingers MYND-type 87 2000-06-16 2001-08-24 2016-04-05 2020-09-17 54583 ENSG00000135766 OTTHUMG00000038027 uc001huv.2 AJ310543 NM_022051 CCDS1595 Q9GZT9 11056053 MGI:1932286 RGD:631375 606425 171073 objectId:2833 HGNC:1232 "ENST00000366641.4|NM_022051.3" HGNC:1232 +HGNC:44481 EGLN1P1 egl-9 family hypoxia inducible factor 1 pseudogene 1 pseudogene pseudogene Approved 15q25.2 15q25.2 egl nine homolog 1 pseudogene 1 2012-11-07 2016-05-03 2016-05-03 106660614 ENSG00000254779 OTTHUMG00000166918 NG_046711 22951037 PGOHUM00000247247 HGNC:44481 +HGNC:14660 EGLN2 egl-9 family hypoxia inducible factor 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PHD1|HIFPH1" HIF prolyl hydroxylase 1 egl nine homolog 2 (C. elegans) 2001-08-21 2016-05-03 2016-05-03 112398 ENSG00000269858 OTTHUMG00000182703 uc002opg.5 AJ310544 NM_053046 CCDS12567 Q96KS0 MGI:1932287 RGD:631376 606424 470260 objectId:2832 HGNC:14660 "ENST00000303961.9|NM_080732.4" +HGNC:14661 EGLN3 egl-9 family hypoxia inducible factor 3 protein-coding gene gene with protein product Approved 14q13.1 14q13.1 "PHD3|HIFPH3" HIF prolyl hydroxylase 3 egl nine homolog 3 (C. elegans) 2001-08-21 2016-05-03 2016-10-05 112399 ENSG00000129521 OTTHUMG00000029498 uc001wsa.5 AJ310545 NM_001308103 "CCDS9646|CCDS76671" Q9H6Z9 MGI:1932288 RGD:71019 606426 470262 objectId:2834 HGNC:14661 "ENST00000250457.9|NM_022073.4" +HGNC:49077 EGLN3-AS1 EGLN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q13.1 14q13.1 Antisense RNAs 1987 2013-08-23 2013-08-23 105370445 ENSG00000258897 OTTHUMG00000170577 AA147919 XR_943736 EGLN3-AS1 HGNC:49077 +HGNC:49857 EGLN3P1 egl-9 family hypoxia-inducible factor 3 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 2014-03-18 2014-03-18 100420503 ENSG00000256134 OTTHUMG00000168792 NG_023986 PGOHUM00000239360 HGNC:49857 +HGNC:37129 EGOT eosinophil granule ontogeny transcript non-coding RNA RNA, long non-coding Approved 3p26.1 03p26.1 "EGO|NCRNA00190" "eosinophil granule ontogeny|non-protein coding RNA 190" eosinophil granule ontogeny transcript (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2009-07-28 2018-05-16 2019-06-07 100126791 ENSG00000235947 OTTHUMG00000156235 uc003bqd.4 BC039547 NR_004428 "17351112|22303364" MGI:5538645 611662 EGO EGOT HGNC:37129 +HGNC:3238 EGR1 early growth response 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "TIS8|G0S30|NGFI-A|KROX-24|ZIF-268|AT225|225" "nerve growth factor-induced protein A|transcription factor ETR103|zinc finger gene 225|early growth response protein 1" Zinc fingers C2H2-type 28 1988-08-11 2021-08-09 1958 ENSG00000120738 OTTHUMG00000129197 uc003ldb.2 M62829 NM_001964 CCDS4206 P18146 "2110381|3127059" MGI:95295 RGD:2544 128990 HGNC:3238 "ENST00000239938.5|NM_001964.3" +HGNC:3239 EGR2 early growth response 2 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 Krox-20 homolog, Drosophila KROX20 early growth response 2 (Krox-20 homolog, Drosophila) Zinc fingers C2H2-type 28 1988-08-31 2009-04-23 2021-05-26 1959 ENSG00000122877 OTTHUMG00000018308 uc009xph.4 BC035625 NM_000399 "CCDS44409|CCDS7267" P11161 MGI:95296 RGD:621608 "Mutation Database of Inherited Peripheral Neuropathies|http://www.molgen.ua.ac.be/CMTMutations|LRG_239|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_239.xml" 129010 121314 HGNC:3239 "ENST00000242480.4|NM_000399.5" HGNC:3239 +HGNC:3240 EGR3 early growth response 3 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 PILOT zinc finger protein pilot Zinc fingers C2H2-type 28 1992-07-08 2016-10-05 1960 ENSG00000179388 OTTHUMG00000097825 uc003xcm.2 X63741 NM_004430 "CCDS6033|CCDS56528" Q06889 "1906159|11909874" MGI:1306780 RGD:2545 602419 HGNC:3240 "ENST00000317216.3|NM_004430.3" +HGNC:3241 EGR4 early growth response 4 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "NGFI-C|PAT133" Zinc fingers C2H2-type 28 1992-07-27 2016-10-05 1961 ENSG00000135625 OTTHUMG00000129774 uc061kqj.1 NM_001965 CCDS1925 Q05215 1584812 MGI:99252 RGD:2546 128992 HGNC:3241 "ENST00000436467.4|NM_001965.4" +HGNC:29144 EHBP1 EH domain binding protein 1 protein-coding gene gene with protein product Approved 2p15 02p15 "KIAA0903|NACSIN" NT-C2 domain containing 1537 2004-08-26 2014-11-19 23301 ENSG00000115504 OTTHUMG00000129453 uc002sby.4 AL833968 NM_015252 "CCDS1872|CCDS46299|CCDS46300" Q8NDI1 10048485 MGI:2667252 RGD:1310604 609922 HGNC:29144 "ENST00000431489.6|NM_001142616.3" +HGNC:55766 EHBP1-AS1 EHBP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p15 02p15 Antisense RNAs 1987 2021-07-22 2021-07-22 100132215 ENSG00000231609 NR_027069 +HGNC:30682 EHBP1L1 EH domain binding protein 1 like 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "DKFZp762C186|TANGERIN" NT-C2 domain containing 1537 2004-08-26 2015-11-10 2018-11-15 254102 ENSG00000173442 OTTHUMG00000166520 uc001oeo.5 AL834433 NM_001099409 CCDS44649 Q8N3D4 MGI:3612340 RGD:1563823 619583 HGNC:30682 "ENST00000309295.9|NM_001099409.3" +HGNC:3242 EHD1 EH domain containing 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "H-PAST|HPAST1|FLJ42622|FLJ44618" testilin PAST1 EF-hand domain containing 863 1999-08-11 2015-11-10 2016-10-05 10938 ENSG00000110047 OTTHUMG00000066832 uc001obu.3 AF099011 NM_006795 "CCDS73315|CCDS8084" Q9H4M9 "10395801|10673336" MGI:1341878 RGD:1309017 605888 HGNC:3242 "ENST00000320631.8|NM_006795.4" +HGNC:3243 EHD2 EH domain containing 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PAST2 EF-hand domain containing 863 2000-03-22 2015-11-10 2016-10-05 30846 ENSG00000024422 OTTHUMG00000183266 uc002phj.5 AF181263 NM_014601 CCDS12704 Q9NZN4 10673336 MGI:2154274 RGD:1560856 605890 HGNC:3243 "ENST00000263277.8|NM_014601.4" +HGNC:3244 EHD3 EH domain containing 3 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 PAST3 EF-hand domain containing 863 2000-03-22 2015-11-10 2016-10-05 30845 ENSG00000013016 OTTHUMG00000099365 uc002rnu.4 AF181264 NM_014600 CCDS1774 Q9NZN3 10673336 MGI:1928900 RGD:621762 605891 HGNC:3244 "ENST00000322054.10|NM_014600.3" +HGNC:3245 EHD4 EH domain containing 4 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 PAST4 EF-hand domain containing 863 2000-03-22 2015-11-10 2016-10-05 30844 ENSG00000103966 OTTHUMG00000130370 uc001zot.4 AF181265 NM_139265 CCDS10081 Q9H223 "10673336|11533061" MGI:1919619 RGD:628883 605892 HGNC:3245 "ENST00000220325.9|NM_139265.4" +HGNC:51418 EHD4-AS1 EHD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 Antisense RNAs 1987 2014-11-21 2014-11-21 101928363 ENSG00000259883 OTTHUMG00000172723 "CF887666|CF891641" NR_120332 EHD4-AS1 HGNC:51418 +HGNC:3246 EHF ETS homologous factor protein-coding gene gene with protein product Approved 11p13 11p13 "ESE3|ESEJ" "epithelium-specific ets factor 3|ESE3 transcription factor" ets homologous factor ETS transcription factor family 534 1999-02-17 2016-02-24 2016-02-24 26298 ENSG00000135373 OTTHUMG00000166454 uc001mvr.3 AF170583 NM_012153 "CCDS7894|CCDS55753|CCDS55752" Q9NZC4 10527851 MGI:1270840 RGD:1310282 605439 HGNC:3246 "ENST00000257831.8|NM_012153.6" +HGNC:3247 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase protein-coding gene gene with protein product Approved 3q27.2 03q27.2 ECHD enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase MicroRNA protein coding host genes 1691 1993-06-25 2016-08-09 2016-10-05 1962 ENSG00000113790 OTTHUMG00000156698 uc003fpf.3 L07077 NM_001166415 "CCDS54694|CCDS33901" Q08426 8188243 MGI:1277964 RGD:621441 607037 159556 "4.2.1.17|1.1.1.35|5.3.3.8" HGNC:3247 "ENST00000231887.8|NM_001966.4" HGNC:3247 +HGNC:44133 EHHADH-AS1 EHHADH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.2 03q27.2 EHHADH antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 339926 ENSG00000223358 OTTHUMG00000156697 uc003fpe.3 BC047598 NR_038990 EHHADH-AS1 HGNC:44133 +HGNC:24650 EHMT1 euchromatic histone lysine methyltransferase 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "Eu-HMTase1|FLJ12879|KIAA1876|bA188C12.1|KMT1D|FLJ40292|GLP" EHMT1-IT1 "euchromatic histone methyltransferase 1|EHMT1 intronic transcript 1" "Ankyrin repeat domain containing|Lysine methyltransferases|SET domain containing" "403|487|1399" 2004-06-01 2016-05-04 2021-09-17 79813 ENSG00000181090 OTTHUMG00000020995 uc011mfc.3 AY083210 NM_024757 "CCDS87721|CCDS7050|CCDS56595" Q9H9B1 "11347906|12004135|17962312" MGI:1924933 RGD:1307588 607001 226051 objectId:2651 2.1.1.43 HGNC:24650 "ENST00000460843.6|NM_024757.5" HGNC:24650 +HGNC:14129 EHMT2 euchromatic histone lysine methyltransferase 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G9A|Em:AF134726.3|NG36/G9a|KMT1C" "C6orf30|BAT8" "chromosome 6 open reading frame 30|HLA-B associated transcript 8" "Ankyrin repeat domain containing|Lysine methyltransferases|SET domain containing" "403|487|1399" 2001-07-09 2005-06-09 2016-05-04 2016-10-05 10919 ENSG00000204371 OTTHUMG00000031180 uc011don.2 AF134726 NM_006709 "CCDS4725|CCDS87384|CCDS4726|CCDS75425" Q96KQ7 "8457211|11316813" MGI:2148922 RGD:1302972 604599 objectId:2652 2.1.1.43 HGNC:14129 +HGNC:39751 EHMT2-AS1 EHMT2 and SLC44A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 "EHMT2 antisense RNA 1 (non-protein coding)|EHMT2 antisense RNA 1" Antisense RNAs 1987 2011-04-21 2017-08-09 2021-07-02 107986588 ENSG00000237080 OTTHUMG00000057535 uc063nix.1 NR_174947 EHMT2-AS1 +HGNC:13276 EI24 EI24 autophagy associated transmembrane protein protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "PIG8|TP53I8|EPG4" ectopic P-granules autophagy protein 4 homolog (C. elegans) "etoposide induced 2.4 mRNA|etoposide induced 2.4" 2003-03-19 2019-01-21 2019-01-21 9538 ENSG00000149547 OTTHUMG00000165851 uc031yiu.2 AF010313 NM_004879 "CCDS73410|CCDS81643|CCDS76493" O14681 "10594026|9305847" MGI:108090 RGD:1309868 605170 HGNC:13276 "ENST00000278903.11|NM_004879.5" +HGNC:44586 EI24P1 EI24 pseudogene 1 pseudogene pseudogene Approved 3q26.32 03q26.32 etoposide induced 2.4 pseudogene 1 2012-11-19 2019-01-21 2019-01-21 100129423 ENSG00000236357 OTTHUMG00000157142 NG_030107 PGOHUM00000299278 HGNC:44586 +HGNC:44587 EI24P2 EI24 pseudogene 2 pseudogene pseudogene Approved 1q23.1 01q23.1 etoposide induced 2.4 pseudogene 2 2012-11-19 2019-01-21 2019-01-21 100129866 ENSG00000236257 OTTHUMG00000017519 NG_022809 PGOHUM00000296596 HGNC:44587 +HGNC:44588 EI24P3 EI24 pseudogene 3 pseudogene pseudogene Approved 3p21.31 03p21.31 etoposide induced 2.4 pseudogene 3 2012-11-19 2019-01-21 2019-01-21 100131881 ENSG00000214825 OTTHUMG00000156451 NG_022202 PGOHUM00000299014 HGNC:44588 +HGNC:44589 EI24P4 EI24 pseudogene 4 pseudogene pseudogene Approved 7q35 07q35 etoposide induced 2.4 pseudogene 4 2012-11-19 2019-01-21 2019-01-21 100420072 ENSG00000236343 OTTHUMG00000152717 NG_026648 PGOHUM00000303001 HGNC:44589 +HGNC:44590 EI24P5 EI24 pseudogene 5 pseudogene pseudogene Approved 8q11.23 08q11.23 etoposide induced 2.4 pseudogene 5 2012-11-19 2019-01-21 2019-01-21 100533660 NG_028885 PGOHUM00000303544 HGNC:44590 +HGNC:1191 EID1 EP300 interacting inhibitor of differentiation 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 EID-1 "C15orf3|CRI1" "CREBBP/EP300 inhibitory protein 1|CREBBP/EP300 inhibitor 1" 1999-10-22 2006-10-12 2006-10-12 2020-09-17 23741 ENSG00000255302 OTTHUMG00000165911 uc001zxc.2 AF092135 NM_014335 CCDS53941 Q9Y6B2 "10828624|11073990" MGI:1889651 RGD:1562702 605894 HGNC:1191 "ENST00000530028.3|NM_014335.3" +HGNC:28292 EID2 EP300 interacting inhibitor of differentiation 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "EID-2|MGC20452" CRI2 "CREBBP/EP300 inhibitory protein 2|CREBBP/EP300 inhibitor 2" 2004-01-15 2006-10-12 2006-10-12 2014-11-19 163126 ENSG00000176396 OTTHUMG00000074073 uc002oma.5 BC030137 NM_153232 CCDS12540 Q8N6I1 14585496 MGI:2681174 RGD:1591322 609773 HGNC:28292 "ENST00000390658.4|NM_153232.4" +HGNC:26796 EID2B EP300 interacting inhibitor of differentiation 2B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "EID-3|FLJ38944" 2006-10-12 2020-01-06 126272 ENSG00000176401 OTTHUMG00000183068 uc002olz.1 AK096263 NM_152361 CCDS12539 Q96D98 15970276 MGI:1924095 RGD:9381183 617355 HGNC:26796 "ENST00000326282.5|NM_152361.3" +HGNC:32961 EID3 EP300 interacting inhibitor of differentiation 3 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ25832|NSMCE4B|NSE4B" NSE4 homolog B 2006-10-12 2020-01-06 493861 ENSG00000255150 OTTHUMG00000165912 uc001tkw.4 BC027612 NM_001008394 CCDS53822 Q8N140 "15987788|15752197" MGI:1913591 RGD:1597206 612986 HGNC:32961 "ENST00000527879.2|NM_001008394.3" +HGNC:3249 EIF1 eukaryotic translation initiation factor 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "EIF-1|ISO1|A121|SUI1|EIF1A" 1991-03-04 2015-09-11 10209 ENSG00000173812 OTTHUMG00000133492 uc002hxj.4 AF083441 NM_005801 CCDS11403 P41567 "7904817|10347211" MGI:105125 RGD:1306308 HGNC:3249 "ENST00000469257.2|NM_005801.4" +HGNC:28147 EIF1AD eukaryotic translation initiation factor 1A domain containing protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "MGC11102|haponin" 2007-11-26 2020-01-06 84285 ENSG00000175376 OTTHUMG00000166671 uc001ogm.3 AK094129 NM_032325 CCDS8124 Q8N9N8 30180896 MGI:1917110 RGD:1304686 618473 HGNC:28147 "ENST00000533544.6|NM_001242481.2" +HGNC:3250 EIF1AX eukaryotic translation initiation factor 1A X-linked protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "eIF-1A|eIF-4C" "EIF4C|EIF1A" "eukaryotic translation initiation factor 1A, X chromosome|eukaryotic translation initiation factor 1A, X-linked" Small nucleolar RNA protein coding host genes 1835 1991-03-04 2004-05-26 2018-04-26 2018-04-26 1964 ENSG00000173674 OTTHUMG00000022704 uc004czt.4 L18960 NM_001412 CCDS14196 P47813 "8106356|9381176" MGI:1913485 RGD:1560198 300186 422208 HGNC:3250 "ENST00000379607.10|NM_001412.4" +HGNC:40208 EIF1AX-AS1 EIF1AX antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.12 Xp22.12 EIF1AX antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874078 ENSG00000225037 OTTHUMG00000021229 uc033dsh.2 NR_046592 EIF1AX-AS1 HGNC:40208 +HGNC:19900 EIF1AXP1 EIF1AX pseudogene 1 pseudogene pseudogene Approved 1p36.13 01p36.13 EIF1AP1 "eukaryotic translation initiation factor 1A pseudogene 1|eukaryotic translation initiation factor 1A, X-linked pseudogene 1" 2002-11-29 2009-12-02 2018-04-26 2018-04-26 280661 ENSG00000236698 OTTHUMG00000002579 AL021920 NG_002419 HGNC:19900 +HGNC:44295 EIF1AXP2 EIF1AX pseudogene 2 pseudogene pseudogene Approved 14q23.3 14q23.3 eukaryotic translation initiation factor 1A, X-linked pseudogene 2 2012-08-08 2018-04-26 2018-04-26 106479036 ENSG00000258980 OTTHUMG00000171171 NG_044391 PGOHUM00000247832 HGNC:44295 +HGNC:3252 EIF1AY eukaryotic translation initiation factor 1A Y-linked protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 eukaryotic translation initiation factor 1A, Y chromosome 1999-04-23 2018-04-26 2018-04-26 9086 ENSG00000198692 OTTHUMG00000036544 uc004fuk.5 AF000987 NM_004681 "CCDS65368|CCDS14795" O14602 9381176 "MGI:95298|MGI:1913485|MGI:3034635|MGI:3643794|MGI:3648257|MGI:3780185|MGI:3780191|MGI:3782201|MGI:5434674|MGI:5439387" RGD:1306331 400014 HGNC:3252 "ENST00000361365.7|NM_004681.4" +HGNC:30792 EIF1B eukaryotic translation initiation factor 1B protein-coding gene gene with protein product Approved 3p22.1 03p22.1 GC20 2006-02-02 2015-09-11 10289 ENSG00000114784 OTTHUMG00000131388 uc003ckc.5 BC006996 NM_005875 CCDS2690 O60739 7904817 MGI:1916219 RGD:1309241 HGNC:30792 "ENST00000232905.4|NM_005875.3" +HGNC:44555 EIF1B-AS1 EIF1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 FLJ33065 Antisense RNAs 1987 2012-11-15 2012-11-15 440952 ENSG00000280739 OTTHUMG00000189530 uc003ckb.4 "AK309874|BC045736" NR_033965 EIF1B-AS1 HGNC:44555 +HGNC:49614 EIF1P1 eukaryotic translation initiation factor 1 pseudogene 1 pseudogene pseudogene Approved 9p24.3 09p24.3 2014-01-24 2014-01-24 100505855 ENSG00000229875 OTTHUMG00000019432 NG_030090 PGOHUM00000236353 HGNC:49614 +HGNC:49615 EIF1P2 eukaryotic translation initiation factor 1 pseudogene 2 pseudogene pseudogene Approved 1p34.3 01p34.3 2014-01-24 2014-01-24 100288425 ENSG00000235549 OTTHUMG00000007495 NG_030194 PGOHUM00000243973 HGNC:49615 +HGNC:49616 EIF1P3 eukaryotic translation initiation factor 1 pseudogene 3 pseudogene pseudogene Approved 1q25.3 01q25.3 2014-01-24 2014-01-24 730144 ENSG00000231684 OTTHUMG00000037404 NG_027543 PGOHUM00000245114 HGNC:49616 +HGNC:49617 EIF1P4 eukaryotic translation initiation factor 1 pseudogene 4 pseudogene pseudogene Approved 16p13.3 16p13.3 2014-01-24 2014-01-24 100130566 ENSG00000262154 OTTHUMG00000177361 NG_030244 PGOHUM00000263399 HGNC:49617 +HGNC:49618 EIF1P5 eukaryotic translation initiation factor 1 pseudogene 5 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-01-24 2014-01-24 106481690 ENSG00000266563 OTTHUMG00000178972 NG_043125 PGOHUM00000263414 HGNC:49618 +HGNC:49619 EIF1P6 eukaryotic translation initiation factor 1 pseudogene 6 pseudogene pseudogene Approved 19p13.3 19p13.3 2014-01-24 2014-01-24 106480277 ENSG00000267938 OTTHUMG00000181916 NG_045130 PGOHUM00000234120 HGNC:49619 +HGNC:49620 EIF1P7 eukaryotic translation initiation factor 1 pseudogene 7 pseudogene pseudogene Approved 2p25.1 02p25.1 2014-01-24 2014-01-24 106481691 ENSG00000213772 OTTHUMG00000159105 NG_045021 PGOHUM00000263480 HGNC:49620 +HGNC:3254 EIF2A eukaryotic translation initiation factor 2A protein-coding gene gene with protein product Approved 3q25.1 03q25.1 EIF-2A eukaryotic translation initiation factor 2A, 65kDa WD repeat domain containing 362 1991-03-04 2015-11-09 2015-11-09 83939 ENSG00000144895 OTTHUMG00000159775 uc003eya.4 AF212241 NM_032025 "CCDS82859|CCDS46935|CCDS82860|CCDS82861" Q9BY44 "12133843|1620067" MGI:1098684 RGD:1589591 609234 HGNC:3254 "ENST00000460851.6|NM_032025.5" +HGNC:24921 EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "HRI|KIAA1369" heme regulated initiation factor 2 alpha kinase 2005-01-19 2015-11-27 2016-10-05 27102 ENSG00000086232 OTTHUMG00000090689 uc003spp.4 BC006524 NM_014413 CCDS5345 Q9BQI3 "7709427|10718198" MGI:1353448 RGD:70883 613635 objectId:2015 HGNC:24921 "ENST00000199389.11|NM_014413.4" HGNC:24921 +HGNC:9437 EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "PKR|EIF2AK1|PPP1R83" protein phosphatase 1, regulatory subunit 83 PRKR protein kinase, interferon-inducible double stranded RNA dependent Protein phosphatase 1 regulatory subunits 694 1992-12-04 2005-01-19 2015-11-27 2017-07-12 5610 ENSG00000055332 OTTHUMG00000100962 uc010fac.4 BC057805 NM_002759 "CCDS1786|CCDS46259" P19525 1351683 MGI:1353449 RGD:3402 176871 objectId:2016 HGNC:9437 "ENST00000233057.9|NM_001135651.3" HGNC:9437 +HGNC:3255 EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "PEK|PERK" 1999-06-14 2015-11-27 2021-04-13 9451 ENSG00000172071 OTTHUMG00000155046 uc002stc.5 AF110146 NM_004836 CCDS33241 Q9NZJ5 "10026192|10575235" MGI:1341830 RGD:70884 LRG_1024|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1024.xml 604032 121317 objectId:2017 HGNC:3255 "ENST00000303236.9|NM_004836.7" HGNC:3255 +HGNC:54066 EIF2AK3-DT EIF2AK3 divergent transcript non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Divergent transcripts 1990 2018-09-27 2018-09-27 101928403 ENSG00000234028 NR_135540 HGNC:54066 +HGNC:19687 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "GCN2|KIAA1338" 2002-11-11 2016-10-05 440275 ENSG00000128829 OTTHUMG00000172403 uc001zkm.2 AB037759 NM_001013703 CCDS42016 Q9P2K8 10504407 MGI:1353427 RGD:1311439 609280 391627 objectId:2018 HGNC:19687 "ENST00000263791.10|NM_001013703.4" HGNC:19687 +HGNC:39495 EIF2AP1 eukaryotic translation initiation factor 2A pseudogene 1 pseudogene pseudogene Approved 7q36.1 07q36.1 2011-01-20 2014-11-19 100874393 NG_032308 PGOHUM00000233074 HGNC:39495 +HGNC:39496 EIF2AP2 eukaryotic translation initiation factor 2A pseudogene 2 pseudogene pseudogene Approved 7q36.1 07q36.1 2011-01-20 2014-11-19 100874394 NG_032309 PGOHUM00000233077 HGNC:39496 +HGNC:39497 EIF2AP3 eukaryotic translation initiation factor 2A pseudogene 3 pseudogene pseudogene Approved 7q36.1 07q36.1 2011-01-20 2011-01-20 100874395 NG_032310 PGOHUM00000233079 HGNC:39497 +HGNC:39498 EIF2AP4 eukaryotic translation initiation factor 2A pseudogene 4 pseudogene pseudogene Approved 10q11.21 10q11.21 2011-01-20 2014-11-18 100874401 ENSG00000227395 OTTHUMG00000018059 NG_032311 PGOHUM00000238759 HGNC:39498 +HGNC:3257 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "EIF-2Balpha|EIF-2B|EIF2BA|EIF2Balpha" EIF2B "eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)|eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa" 1991-03-04 2015-11-16 2021-12-10 1967 ENSG00000111361 OTTHUMG00000168696 uc001ufm.4 X95648 NM_001414 CCDS31924 Q14232 15776425 MGI:2384802 RGD:620819 606686 121320 HGNC:3257 "ENST00000424014.7|NM_001414.4" HGNC:3257 +HGNC:3258 EIF2B2 eukaryotic translation initiation factor 2B subunit beta protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "EIF2B|EIF-2Bbeta|EIF2Bbeta" "eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)|eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa" 1998-10-16 2015-11-16 2021-12-10 8892 ENSG00000119718 OTTHUMG00000171764 uc001xrc.3 NM_014239 CCDS9836 P49770 8887689 MGI:2145118 RGD:620820 606454 121326 HGNC:3258 "ENST00000266126.10|NM_014239.4" HGNC:3258 +HGNC:3259 EIF2B3 eukaryotic translation initiation factor 2B subunit gamma protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "EIF2Bgamma|EIF-2B" "eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)|eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa" 1998-10-16 2015-11-16 2021-12-10 8891 ENSG00000070785 OTTHUMG00000008585 uc001cmt.4 AF257077 NM_020365 "CCDS53313|CCDS517|CCDS72775" Q9NR50 10900014 MGI:1313286 RGD:620821 606273 121330 HGNC:3259 "ENST00000360403.7|NM_020365.5" HGNC:3259 +HGNC:3260 EIF2B4 eukaryotic translation initiation factor 2B subunit delta protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "EIF2Bdelta|EIF-2B|DKFZP586J0119|EIF2B" "eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)|eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa" 1998-10-16 2015-11-16 2021-12-10 8890 ENSG00000115211 OTTHUMG00000151927 uc002rkb.4 AJ011306 NM_001034116 "CCDS33164|CCDS46244|CCDS46245|CCDS82432" Q9UI10 "8929216|7982969" MGI:95300 RGD:620208 606687 121334 HGNC:3260 "ENST00000347454.9|NM_001034116.2" HGNC:3260 +HGNC:3261 EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "EIF2Bepsilon|EIF-2B" "eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)|eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa" 1998-10-16 2015-11-16 2021-12-10 8893 ENSG00000145191 OTTHUMG00000156840 uc003fmp.4 U23028 NM_003907 CCDS3252 Q13144 8688466 MGI:2446176 RGD:708380 LRG_1278|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1278.xml 603945 121340 HGNC:3261 "ENST00000648915.2|NM_003907.3" HGNC:3261 +HGNC:55202 EIF2B5-DT EIF2B5 divergent transcript non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 Divergent transcripts 1990 2020-08-21 2020-08-21 105374249 ENSG00000272721 XR_007096192 +HGNC:6583 EIF2D eukaryotic translation initiation factor 2D protein-coding gene gene with protein product Approved 1q32.1 01q32.1 LGTN 1996-07-22 2011-01-19 2011-01-19 2014-11-19 1939 ENSG00000143486 OTTHUMG00000184619 uc001heh.4 BC001585 NM_006893 "CCDS1465|CCDS55680" P41214 20566627 MGI:109342 RGD:1561765 613709 HGNC:6583 "ENST00000271764.7|NM_006893.3" +HGNC:3265 EIF2S1 eukaryotic translation initiation factor 2 subunit alpha protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "EIF-2alpha|EIF2A" EIF2 "eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )|eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa" 1991-03-04 2015-11-16 2016-10-05 1965 ENSG00000134001 OTTHUMG00000029800 uc001xjg.4 J02645 NM_004094 CCDS9781 P05198 2948954 MGI:95299 RGD:620963 603907 HGNC:3265 "ENST00000256383.11|NM_004094.5" +HGNC:3266 EIF2S2 eukaryotic translation initiation factor 2 subunit beta protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "EIF2beta|PPP1R67" protein phosphatase 1, regulatory subunit 67 EIF2 "eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )|eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa" Protein phosphatase 1 regulatory subunits 694 1998-10-16 2015-11-16 2016-10-05 8894 ENSG00000125977 OTTHUMG00000032287 uc002xaf.4 M29536 NM_003908 CCDS13231 P20042 3044606 MGI:1914454 RGD:735192 603908 470264 HGNC:3266 "ENST00000374980.3|NM_003908.5" +HGNC:20009 EIF2S2P1 eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 1 pseudogene pseudogene Approved 14q23.2 14q23.2 EIF2S2P "eukaryotic translation initiation factor 2, subunit 2 beta, pseudogene|eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 1" 2003-01-13 2009-11-25 2015-12-16 2020-04-07 319115 ENSG00000258778 OTTHUMG00000171132 NG_002496 PGOHUM00000248200 HGNC:20009 +HGNC:24654 EIF2S2P2 eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 2 pseudogene pseudogene Approved 3q27.2 03q27.2 bcm2636 eukaryotic translation initiation factor 2 beta-like pseudogene eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 2 2004-06-28 2015-12-16 2015-12-16 347673 ENSG00000229704 OTTHUMG00000156699 NG_002696 PGOHUM00000237895 HGNC:24654 +HGNC:31664 EIF2S2P3 eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 3 pseudogene pseudogene Approved 10q23.33 10q23.33 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 3 2004-05-27 2015-12-16 2020-04-20 283014 ENSG00000236493 OTTHUMG00000018763 NG_005657 PGOHUM00000238585 HGNC:31664 +HGNC:37626 EIF2S2P4 eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 4 pseudogene pseudogene Approved 2q31.1 02q31.1 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 4 2009-11-25 2015-12-16 2015-12-16 728350 ENSG00000128692 OTTHUMG00000154071 NG_005660.3 HGNC:37626 +HGNC:37793 EIF2S2P5 eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 5 pseudogene pseudogene Approved 1p13.2 01p13.2 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 5 2010-02-24 2015-12-16 2016-10-05 347675 ENSG00000225650 OTTHUMG00000011896 NG_002698 PGOHUM00000244859 HGNC:37793 +HGNC:37794 EIF2S2P6 eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 6 pseudogene pseudogene Approved 11q14.1 11q14.1 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 6 2010-02-24 2015-12-16 2020-04-06 100129629 ENSG00000254441 OTTHUMG00000166928 NG_022982 PGOHUM00000242822 HGNC:37794 +HGNC:37795 EIF2S2P7 eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 7 pseudogene pseudogene Approved 2p16.1 02p16.1 eukaryotic translation initiation factor 2, subunit 2 beta pseudogene 7 2010-02-24 2015-12-16 2020-01-21 647016 ENSG00000271115 NG_021500 PGOHUM00000240049 HGNC:37795 +HGNC:3267 EIF2S3 eukaryotic translation initiation factor 2 subunit gamma protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "EIF2gamma|EIF2" eukaryotic translation initiation factor 2G EIF2G "eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)|eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa" 1994-09-06 2015-11-16 2020-04-02 1968 ENSG00000130741 OTTHUMG00000021262 uc004dbc.5 L19161 NM_001415 CCDS14210 P41091 "8106381|9736774" MGI:1349431 RGD:1561279 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EIF2S3 300161 470266 HGNC:3267 "ENST00000253039.9|NM_001415.4" HGNC:3267 +HGNC:43863 EIF2S3B eukaryotic translation initiation factor 2 subunit gamma B protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "eIF2gA|eIF-2-gamma2" eukaryotic translation initiation factor 2 subunit gamma A 2017-11-30 2017-11-30 255308 ENSG00000180574 OTTHUMG00000168585 NM_001357731 CCDS86282 Q2VIR3 16201836 MGI:1349431 RGD:2314438 HGNC:43863 "ENST00000538173.2|NM_001357734.3" +HGNC:3271 EIF3A eukaryotic translation initiation factor 3 subunit A protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "eIF3-theta|eIF3-p170|KIAA0139|TIF32" "EIF3|EIF3S10" "eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa|eukaryotic translation initiation factor 3, subunit A" "Eukaryotic translation initiation factor 3|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes" "1121|1492|1835" 1998-11-26 2007-07-27 2015-12-04 2020-05-04 8661 ENSG00000107581 OTTHUMG00000019144 uc001ldu.4 U78311 NM_003750 CCDS7608 Q14152 "9054404|8590280" MGI:95301 RGD:1307269 602039 HGNC:3271 "ENST00000369144.8|NM_003750.4" +HGNC:3280 EIF3B eukaryotic translation initiation factor 3 subunit B protein-coding gene gene with protein product Approved 7p22.3 07p22.3 PRT1 protein synthesis 1 EIF3S9 "eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa|eukaryotic translation initiation factor 3, subunit B" "RNA binding motif containing|Eukaryotic translation initiation factor 3|Armadillo like helical domain containing" "725|1121|1492" 1998-11-26 2007-07-27 2015-12-04 2020-05-04 8662 ENSG00000106263 OTTHUMG00000022839 uc003sly.4 U62583 NM_001037283 CCDS5332 P55884 8995410 MGI:106478 RGD:1309018 603917 HGNC:3280 "ENST00000360876.9|NM_001037283.2" +HGNC:3279 EIF3C eukaryotic translation initiation factor 3 subunit C protein-coding gene gene with protein product Approved 16p11.2 16p11.2 eIF3-p110 EIF3S8 "eukaryotic translation initiation factor 3, subunit 8, 110kDa|eukaryotic translation initiation factor 3, subunit C" "Eukaryotic translation initiation factor 3|MicroRNA protein coding host genes" "1121|1691" 1998-11-26 2007-07-27 2015-12-04 2020-05-04 8663 ENSG00000184110 OTTHUMG00000099443 uc010byi.4 U46025 NM_003752 "CCDS10638|CCDS66993" Q99613 8995409 MGI:1926966 RGD:1308871 603916 HGNC:3279 "ENST00000331666.11|NM_003752.5" +HGNC:26347 EIF3CL eukaryotic translation initiation factor 3 subunit C like protein-coding gene gene with protein product Approved 16p12.1 16p12.1 eukaryotic translation initiation factor 3, subunit C-like Armadillo like helical domain containing 1492 2007-08-02 2017-02-21 2017-02-21 728689 ENSG00000205609 OTTHUMG00000097025 uc002dpi.6 NM_001099661 CCDS42136 B5ME19 MGI:1926966 HGNC:26347 "ENST00000380876.5|NM_001317857.2" +HGNC:3278 EIF3D eukaryotic translation initiation factor 3 subunit D protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "eIF3-p66|eIF3-zeta" EIF3S7 "eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa|eukaryotic translation initiation factor 3, subunit D" "Eukaryotic translation initiation factor 3|Armadillo like helical domain containing" "1121|1492" 1998-11-26 2007-07-27 2015-12-04 2020-05-04 8664 ENSG00000100353 OTTHUMG00000150599 uc003apr.4 U54558 NM_003753 CCDS13930 O15371 9341143 MGI:1933181 RGD:1303255 603915 HGNC:3278 "ENST00000216190.13|NM_003753.4" +HGNC:3277 EIF3E eukaryotic translation initiation factor 3 subunit E protein-coding gene gene with protein product Approved 8q23.1 08q23.1 eIF3-p48 "INT6|EIF3S6" "eukaryotic translation initiation factor 3, subunit 6 48kDa|eukaryotic translation initiation factor 3, subunit E" Eukaryotic translation initiation factor 3 1121 1997-07-11 2007-07-27 2015-12-04 2020-05-04 3646 ENSG00000104408 OTTHUMG00000164858 uc064pmy.1 U94175 NM_001568 CCDS6308 P60228 "9403073|9295280" MGI:99257 RGD:9273439 EIF3E 602210 HGNC:3277 "ENST00000220849.10|NM_001568.3" +HGNC:6102 EIF3EP1 eukaryotic translation initiation factor 3 subunit E pseudogene 1 pseudogene pseudogene Approved 6q13 06q13 "INT6P1|EIF3S6P1|EIF3EP" "murine mammary tumor integration site 6 (oncogene homolog) pseudogene 1|eukaryotic translation initiation factor 3, subunit 6 48kDa pseudogene 1|eukaryotic translation initiation factor 3, subunit E pseudogene|eukaryotic translation initiation factor 3, subunit E pseudogene 1" 1997-07-11 2010-03-10 2015-12-04 2015-12-04 3647 ENSG00000234882 OTTHUMG00000015029 NG_001023 9403073 PGOHUM00000257154 HGNC:6102 +HGNC:37919 EIF3EP2 eukaryotic translation initiation factor 3 subunit E pseudogene 2 pseudogene pseudogene Approved 2q24.2 02q24.2 eukaryotic translation initiation factor 3, subunit E pseudogene 2 2010-03-10 2015-12-04 2015-12-04 100132597 ENSG00000224674 OTTHUMG00000154397 NG_023025 HGNC:37919 +HGNC:37920 EIF3EP3 eukaryotic translation initiation factor 3 subunit E pseudogene 3 pseudogene pseudogene Approved 2q24.3 02q24.3 eukaryotic translation initiation factor 3, subunit E pseudogene 3 2010-03-10 2015-12-04 2015-12-04 100462836 NG_021590 PGOHUM00000241007 HGNC:37920 +HGNC:37921 EIF3EP4 eukaryotic translation initiation factor 3 subunit E pseudogene 4 pseudogene pseudogene Approved 3q26.33 03q26.33 eukaryotic translation initiation factor 3, subunit E pseudogene 4 2010-03-10 2015-12-04 2015-12-04 100422200 NG_022232 PGOHUM00000237888 HGNC:37921 +HGNC:3275 EIF3F eukaryotic translation initiation factor 3 subunit F protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "eIF3-epsilon|eIF3-p47" EIF3S5 "eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa|eukaryotic translation initiation factor 3, subunit F" "JAMM/MPN+ metallopeptidase family|Eukaryotic translation initiation factor 3" "999|1121" 1998-11-26 2007-07-27 2015-12-04 2020-05-04 8665 ENSG00000175390 OTTHUMG00000165675 uc001mfw.5 "U94855|AK093511" NM_003754 CCDS7785 O00303 9341143 MGI:1913335 RGD:1306112 603914 HGNC:3275 "ENST00000651655.1|NM_003754.3" HGNC:3275 +HGNC:3276 EIF3FP1 eukaryotic translation initiation factor 3 subunit F pseudogene 1 pseudogene pseudogene Approved 21p11.2 21p11.2 "EIF3S5P|EIF3FP" "eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa pseudogene|eukaryotic translation initiation factor 3, subunit F pseudogene|eukaryotic translation initiation factor 3, subunit F pseudogene 1" 2000-05-23 2009-11-25 2015-12-04 2015-12-04 54053 ENSG00000275945 OTTHUMG00000188301 NG_000925 PGOHUM00000297326 HGNC:3276 +HGNC:28863 EIF3FP2 eukaryotic translation initiation factor 3 subunit F pseudogene 2 pseudogene pseudogene Approved 13q11 13q11 IFP38 eukaryotic translation initiation factor 3, subunit F pseudogene 2 2007-07-30 2015-12-04 2015-12-04 83880 NG_005632 HGNC:28863 +HGNC:37625 EIF3FP3 eukaryotic translation initiation factor 3 subunit F pseudogene 3 pseudogene pseudogene Approved 2p16.1 02p16.1 eukaryotic translation initiation factor 3, subunit F pseudogene 3 2009-11-25 2015-12-04 2015-12-04 339799 ENSG00000233426 OTTHUMG00000152112 NG_006949.2 HGNC:37625 +HGNC:3274 EIF3G eukaryotic translation initiation factor 3 subunit G protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "eIF3-delta|eIF3-p44" EIF3S4 "eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa|eukaryotic translation initiation factor 3, subunit G" "RNA binding motif containing|Eukaryotic translation initiation factor 3" "725|1121" 1998-11-26 2007-07-27 2015-12-04 2020-05-04 8666 ENSG00000130811 OTTHUMG00000180396 uc002mnd.4 U96074 NM_003755 CCDS12227 O75821 9822659 MGI:1858258 RGD:1307191 603913 HGNC:3274 "ENST00000253108.9|NM_003755.5" +HGNC:3273 EIF3H eukaryotic translation initiation factor 3 subunit H protein-coding gene gene with protein product Approved 8q23.3-q24.11 08q23.3-q24.11 "eIF3-gamma|eIF3-p40" EIF3S3 "eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa|eukaryotic translation initiation factor 3, subunit H" "JAMM/MPN+ metallopeptidase family|Eukaryotic translation initiation factor 3" "999|1121" 1998-11-26 2007-07-27 2015-12-04 2020-05-04 8667 ENSG00000147677 OTTHUMG00000164919 uc003yoa.4 U54559 NM_003756 CCDS6319 O15372 9341143 MGI:1915385 RGD:735178 603912 470268 HGNC:3273 "ENST00000521861.6|NM_003756.3" +HGNC:3272 EIF3I eukaryotic translation initiation factor 3 subunit I protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "TRIP-1|eIF3-beta|eIF3-p36" EIF3S2 "eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa|eukaryotic translation initiation factor 3, subunit I" "WD repeat domain containing|Eukaryotic translation initiation factor 3" "362|1121" 1998-11-26 2007-07-27 2015-12-04 2020-05-04 8668 ENSG00000084623 OTTHUMG00000007364 uc009vuc.4 U39067 NM_003757 CCDS357 Q13347 "7566156|8995409" MGI:1860763 RGD:1584560 603911 HGNC:3272 +HGNC:13277 EIF3IP1 eukaryotic translation initiation factor 3 subunit I pseudogene 1 pseudogene pseudogene Approved 7q31.1 07q31.1 RG208K23 eukaryotic translation initiation factor 3, subunit I pseudogene 1 2007-08-02 2015-12-04 2016-10-05 442720 ENSG00000237064 OTTHUMG00000155015 NR_003024 PGOHUM00000302392 HGNC:13277 +HGNC:3270 EIF3J eukaryotic translation initiation factor 3 subunit J protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "eIF3-p35|eIF3-alpha" EIF3S1 "eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa|eukaryotic translation initiation factor 3, subunit J" Eukaryotic translation initiation factor 3 1121 1998-11-26 2007-07-27 2015-12-04 2020-05-04 8669 ENSG00000104131 OTTHUMG00000131158 uc001ztv.4 U97670 NM_003758 "CCDS61613|CCDS61612|CCDS10111" O75822 9822659 MGI:1925905 RGD:1593338 603910 HGNC:3270 "ENST00000261868.10|NM_003758.4" +HGNC:48616 EIF3J-DT EIF3J divergent transcript non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 EIF3J-AS1 EIF3J antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-24 2018-03-22 2018-03-22 2018-03-22 645212 ENSG00000179523 OTTHUMG00000171875 NR_034170 EIF3J-AS1 HGNC:48616 +HGNC:55005 EIF3JP1 EIF3J pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 117981790 ENSG00000228041 NR_170311 +HGNC:24656 EIF3K eukaryotic translation initiation factor 3 subunit K protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PRO1474|HSPC029|PTD001|PLAC-24|M9|ARG134" EIF3S12 "eukaryotic translation initiation factor 3, subunit 12|eukaryotic translation initiation factor 3, subunit K" Eukaryotic translation initiation factor 3 1121 2005-01-10 2007-07-27 2015-12-04 2020-05-04 27335 ENSG00000178982 OTTHUMG00000180865 uc002oiz.2 AB019392 NM_013234 "CCDS12517|CCDS74360|CCDS77293" Q9UBQ5 "11042152|14519125" MGI:1921080 RGD:1309221 609596 HGNC:24656 "ENST00000248342.9|NM_013234.4" +HGNC:44016 EIF3KP1 eukaryotic translation initiation factor 3 subunit K pseudogene 1 pseudogene pseudogene Approved 5q21.1 05q21.1 eukaryotic translation initiation factor 3, subunit K pseudogene 1 2012-05-28 2015-12-04 2015-12-04 134505 ENSG00000175749 OTTHUMG00000162879 NG_029444 PGOHUM00000235721 HGNC:44016 +HGNC:44017 EIF3KP2 eukaryotic translation initiation factor 3 subunit K pseudogene 2 pseudogene pseudogene Approved 3p24.2 03p24.2 eukaryotic translation initiation factor 3, subunit K pseudogene 2 2012-05-28 2015-12-04 2015-12-04 100129045 ENSG00000233544 OTTHUMG00000155682 NG_022242 PGOHUM00000237962 HGNC:44017 +HGNC:44018 EIF3KP3 eukaryotic translation initiation factor 3 subunit K pseudogene 3 pseudogene pseudogene Approved 4q26 04q26 eukaryotic translation initiation factor 3, subunit K pseudogene 3 2012-05-28 2015-12-04 2015-12-04 645368 ENSG00000250442 OTTHUMG00000161077 NG_022029 PGOHUM00000245665 HGNC:44018 +HGNC:18138 EIF3L eukaryotic translation initiation factor 3 subunit L protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "HSPC021|HSPC025|EIF3S11" "EIF3S6IP|EIF3EIP" "eukaryotic translation initiation factor 3, subunit 6 interacting protein|eukaryotic translation initiation factor 3, subunit E interacting protein|eukaryotic translation initiation factor 3, subunit L" Eukaryotic translation initiation factor 3 1121 2002-02-19 2009-01-07 2015-12-04 2016-10-05 51386 ENSG00000100129 OTTHUMG00000150671 uc003auf.3 AF083243 NM_016091 "CCDS56230|CCDS13960|CCDS87024" Q9Y262 "11042152|11590142" MGI:2386251 RGD:1308230 619197 HGNC:18138 "ENST00000652021.1|NM_016091.4" +HGNC:20010 EIF3LP1 eukaryotic translation initiation factor 3 subunit L pseudogene 1 pseudogene pseudogene Approved 14q31.1 14q31.1 "EIF3S6IPP|EIF3EIPP1" "eukaryotic translation initiation factor 3, subunit 6 interacting protein pseudogene|eukaryotic translation initiation factor 3, subunit E interacting protein pseudogene 1|eukaryotic translation initiation factor 3, subunit L pseudogene 1" 2003-01-13 2009-01-07 2015-12-04 2015-12-04 319117 ENSG00000258501 OTTHUMG00000171402 NG_002498 PGOHUM00000264216 HGNC:20010 +HGNC:24657 EIF3LP2 eukaryotic translation initiation factor 3 subunit L pseudogene 2 pseudogene pseudogene Approved 10q11.21 10q11.21 "EIF3S6IPP2|EIF3EIPP2" "eukaryotic translation initiation factor 3, subunit 6 interacting protein pseudogene 2|eukaryotic translation initiation factor 3, subunit E interacting protein pseudogene 2|eukaryotic translation initiation factor 3, subunit L pseudogene 2" 2004-05-27 2009-01-07 2015-12-04 2015-12-04 143341 ENSG00000233837 OTTHUMG00000018013 AL022345 NG_001544 PGOHUM00000238751 HGNC:24657 +HGNC:44976 EIF3LP3 eukaryotic translation initiation factor 3 subunit L pseudogene 3 pseudogene pseudogene Approved 10p11.1 10p11.1 eukaryotic translation initiation factor 3, subunit L pseudogene 3 2012-12-20 2015-12-04 2015-12-04 340947 ENSG00000226086 OTTHUMG00000017986 NG_022143 PGOHUM00000238414 HGNC:44976 +HGNC:24460 EIF3M eukaryotic translation initiation factor 3 subunit M protein-coding gene gene with protein product Approved 11p13 11p13 "hfl-B5|FLJ29030|GA17|TANGO7" transport and golgi organization 7 homolog (Drosophila) PCID1 "PCI domain containing 1 (herpesvirus entry mediator)|eukaryotic translation initiation factor 3, subunit M" "Eukaryotic translation initiation factor 3|Armadillo like helical domain containing" "1121|1492" 2006-03-31 2007-07-27 2015-12-04 2020-05-04 10480 ENSG00000149100 OTTHUMG00000166258 uc001mtu.5 AK131064 NM_006360 "CCDS76392|CCDS7880" Q7L2H7 "15919898|15919899" MGI:1351744 RGD:1565840 609641 HGNC:24460 "ENST00000531120.6|NM_006360.6" +HGNC:55006 EIF3MP1 EIF3M pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 266683 ENSG00000236365 NG_002371 +HGNC:3282 EIF4A1 eukaryotic translation initiation factor 4A1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "DDX2A|EIF-4A" EIF4A eukaryotic translation initiation factor 4A, isoform 1 "DEAD-box helicases|Small nucleolar RNA protein coding host genes" "499|1835" 1991-03-04 2010-02-10 2016-10-05 1973 ENSG00000161960 OTTHUMG00000108149 uc060arb.1 D13748 NM_001416 "CCDS11113|CCDS58511" P60842 "8493113|9790779" MGI:95303 RGD:735141 602641 HGNC:3282 "ENST00000293831.13|NM_001416.4" +HGNC:3283 EIF4A1P1 eukaryotic translation initiation factor 4A1 pseudogene 1 pseudogene pseudogene Approved 21q21.3 21q21.3 EIF4A1P eukaryotic translation initiation factor 4A, isoform 1, pseudogene 2000-05-23 2010-02-10 2010-02-10 2014-11-28 54052 ENSG00000233300 OTTHUMG00000078696 NG_000924.4 PGOHUM00000297239 HGNC:3283 +HGNC:23946 EIF4A1P2 eukaryotic translation initiation factor 4A1 pseudogene 2 pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-02-16 2014-11-28 359792 ENSG00000235001 OTTHUMG00000035195 NG_002809 12815422 PGOHUM00000305421 HGNC:23946 +HGNC:37922 EIF4A1P3 eukaryotic translation initiation factor 4A1 pseudogene 3 pseudogene pseudogene Approved 9q34.13 09q34.13 2010-03-10 2014-11-28 100462824 ENSG00000231018 OTTHUMG00000020830 NG_021637 PGOHUM00000304060 HGNC:37922 +HGNC:37923 EIF4A1P4 eukaryotic translation initiation factor 4A1 pseudogene 4 pseudogene pseudogene Approved 12q13.13 12q13.13 2010-03-10 2014-11-28 728698 ENSG00000257790 OTTHUMG00000170024 XR_015801 PGOHUM00000291675 HGNC:37923 +HGNC:37924 EIF4A1P5 eukaryotic translation initiation factor 4A1 pseudogene 5 pseudogene pseudogene Approved 13q13.3 13q13.3 2010-03-10 2010-03-10 2014-11-28 390394 ENSG00000226161 OTTHUMG00000016744 NG_011401 PGOHUM00000291924 HGNC:37924 +HGNC:37925 EIF4A1P6 eukaryotic translation initiation factor 4A1 pseudogene 6 pseudogene pseudogene Approved 13q21.2 13q21.2 2010-03-10 2014-11-28 390407 ENSG00000236608 OTTHUMG00000017009 NG_022897 PGOHUM00000291972 HGNC:37925 +HGNC:37926 EIF4A1P7 eukaryotic translation initiation factor 4A1 pseudogene 7 pseudogene pseudogene Approved 13q12.3 13q12.3 2010-03-10 2014-11-28 341784 ENSG00000235472 OTTHUMG00000016649 NG_011333 PGOHUM00000292117 HGNC:37926 +HGNC:37927 EIF4A1P8 eukaryotic translation initiation factor 4A1 pseudogene 8 pseudogene pseudogene Approved 10q23.32 10q23.32 2010-03-10 2014-11-28 100289102 ENSG00000213484 OTTHUMG00000018754 NG_022188 PGOHUM00000290251 HGNC:37927 +HGNC:37928 EIF4A1P9 eukaryotic translation initiation factor 4A1 pseudogene 9 pseudogene pseudogene Approved 17p13.3 17p13.3 2010-03-10 2010-03-10 2014-11-28 642746 ENSG00000262953 OTTHUMG00000177802 NG_022440 PGOHUM00000293939 HGNC:37928 +HGNC:37930 EIF4A1P10 eukaryotic translation initiation factor 4A1 pseudogene 10 pseudogene pseudogene Approved Xq21.31 Xq21.31 2010-03-10 2014-11-28 100421533 ENSG00000229132 OTTHUMG00000021964 NG_022621 PGOHUM00000304755 HGNC:37930 +HGNC:37932 EIF4A1P11 eukaryotic translation initiation factor 4A1 pseudogene 11 pseudogene pseudogene Approved 1q25.2 01q25.2 2010-03-11 2014-11-28 100130006 ENSG00000231564 OTTHUMG00000041097 NG_028242 PGOHUM00000296671 HGNC:37932 +HGNC:37933 EIF4A1P12 eukaryotic translation initiation factor 4A1 pseudogene 12 pseudogene pseudogene Approved 14q12 14q12 2010-03-11 2014-11-28 100462830 ENSG00000257662 OTTHUMG00000170384 NG_022856 PGOHUM00000292609 HGNC:37933 +HGNC:37934 EIF4A1P13 eukaryotic translation initiation factor 4A1 pseudogene 13 pseudogene pseudogene Approved 7q21.12 07q21.12 2010-03-11 2014-11-28 100462826 ENSG00000225701 OTTHUMG00000154432 NG_022543 PGOHUM00000302339 HGNC:37934 +HGNC:3284 EIF4A2 eukaryotic translation initiation factor 4A2 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "DDX2B|EIF4A|BM-010" EIF4F eukaryotic translation initiation factor 4A, isoform 2 "DEAD-box helicases|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "499|1691|1835" 1995-05-10 2010-02-10 2016-10-05 1974 ENSG00000156976 OTTHUMG00000156564 uc003fqs.4 D30655 NM_001967 CCDS3282 Q14240 8521730 MGI:106906 RGD:1309225 EIF4A2 601102 3.6.1.1 HGNC:3284 "ENST00000323963.10|NM_001967.4" +HGNC:37929 EIF4A2P1 eukaryotic translation initiation factor 4A2 pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 2010-03-10 2014-11-28 646171 ENSG00000267336 OTTHUMG00000181908 NG_022488 PGOHUM00000294734 HGNC:37929 +HGNC:45099 EIF4A2P2 eukaryotic translation initiation factor 4A2 pseudogene 2 pseudogene pseudogene Approved 10q22.2 10q22.2 2013-02-15 2014-10-07 100421579 ENSG00000227382 OTTHUMG00000018452 NG_025519 PGOHUM00000290203 HGNC:45099 +HGNC:45100 EIF4A2P3 eukaryotic translation initiation factor 4A2 pseudogene 3 pseudogene pseudogene Approved 11q12.1 11q12.1 2013-02-15 2014-10-07 100133309 ENSG00000254589 OTTHUMG00000167464 NG_021786 PGOHUM00000290527 HGNC:45100 +HGNC:45101 EIF4A2P4 eukaryotic translation initiation factor 4A2 pseudogene 4 pseudogene pseudogene Approved Xp11.22 Xp11.22 2013-02-15 2014-10-07 286512 ENSG00000224781 OTTHUMG00000021588 NG_022602 PGOHUM00000304633 HGNC:45101 +HGNC:45102 EIF4A2P5 eukaryotic translation initiation factor 4A2 pseudogene 5 pseudogene pseudogene Approved 11p13 11p13 2013-02-15 2014-10-07 106480446 ENSG00000255490 OTTHUMG00000166234 NG_043426 PGOHUM00000290862 HGNC:45102 +HGNC:18683 EIF4A3 eukaryotic translation initiation factor 4A3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA0111|EIF4AIII|Fal1" DDX48 "DEAD (Asp-Glu-Ala-Asp) box polypeptide 48|eukaryotic translation initiation factor 4A, isoform 3" "DEAD-box helicases|Exon junction complex|SSU processome|Spliceosomal Bact complex|Spliceosomal P complex" "499|1238|1484|1508|1516" 2003-06-13 2006-11-27 2010-02-10 2021-04-13 9775 ENSG00000141543 OTTHUMG00000177538 uc002jxs.3 BC004386 NM_014740 CCDS11767 P38919 "10623621|14730019" MGI:1923731 RGD:1591139 LRG_1284|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1284.xml 608546 390756 HGNC:18683 "ENST00000649764.2|NM_014740.4" HGNC:18683 +HGNC:51460 EIF4A3P1 eukaryotic translation initiation factor 4A3 pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 EIF4A3 pseudogene 1 2014-11-28 2015-04-07 2015-04-07 390843 ENSG00000266181 OTTHUMG00000179490 NG_022484 PGOHUM00000294628 HGNC:51460 +HGNC:3285 EIF4B eukaryotic translation initiation factor 4B protein-coding gene gene with protein product Approved 12q13.13 12q13.13 RNA binding motif containing 725 1991-03-04 2015-08-25 1975 ENSG00000063046 OTTHUMG00000169570 uc001sbh.5 X55733 NM_001417 "CCDS41788|CCDS86303|CCDS73474" P23588 MGI:95304 RGD:1306479 603928 HGNC:3285 "ENST00000262056.14|NM_001417.7" +HGNC:19929 EIF4BP1 eukaryotic translation initiation factor 4B pseudogene 1 pseudogene pseudogene Approved 14q21.2 14q21.2 EIF4BP eukaryotic translation initiation factor 4B pseudogene 2003-01-13 2010-03-11 2010-03-11 2014-11-28 319118 ENSG00000259019 OTTHUMG00000170683 NG_002499 PGOHUM00000292338 HGNC:19929 +HGNC:37935 EIF4BP2 eukaryotic translation initiation factor 4B pseudogene 2 pseudogene pseudogene Approved 10p12.31 10p12.31 2010-03-11 2014-11-28 100129337 ENSG00000228753 OTTHUMG00000017785 NG_017092 PGOHUM00000290060 HGNC:37935 +HGNC:37936 EIF4BP3 eukaryotic translation initiation factor 4B pseudogene 3 pseudogene pseudogene Approved 9q22.32 09q22.32 2010-03-11 2014-11-28 100128771 ENSG00000224546 OTTHUMG00000020290 XR_037860 PGOHUM00000304399 HGNC:37936 +HGNC:37937 EIF4BP4 eukaryotic translation initiation factor 4B pseudogene 4 pseudogene pseudogene Approved 3p22.1 03p22.1 2010-03-11 2014-11-28 100130064 ENSG00000229572 OTTHUMG00000156187 NG_022954 PGOHUM00000299416 HGNC:37937 +HGNC:37938 EIF4BP5 eukaryotic translation initiation factor 4B pseudogene 5 pseudogene pseudogene Approved 16q12.1 16q12.1 2010-03-11 2014-11-28 100421528 ENSG00000261336 OTTHUMG00000175532 NG_022504 PGOHUM00000293598 HGNC:37938 +HGNC:37939 EIF4BP6 eukaryotic translation initiation factor 4B pseudogene 6 pseudogene pseudogene Approved 7q22.2 07q22.2 2010-03-11 2014-11-28 645579 ENSG00000197258 OTTHUMG00000157274 NG_005592 PGOHUM00000302879 HGNC:37939 +HGNC:37940 EIF4BP7 eukaryotic translation initiation factor 4B pseudogene 7 pseudogene pseudogene Approved Xq23 Xq23 2010-03-11 2014-11-28 643873 ENSG00000225031 OTTHUMG00000022206 XR_039149 PGOHUM00000304801 HGNC:37940 +HGNC:37941 EIF4BP8 eukaryotic translation initiation factor 4B pseudogene 8 pseudogene pseudogene Approved 3q21.1 03q21.1 2010-03-11 2014-11-28 339881 ENSG00000243918 OTTHUMG00000159551 XR_078291 PGOHUM00000299557 HGNC:37941 +HGNC:37942 EIF4BP9 eukaryotic translation initiation factor 4B pseudogene 9 pseudogene pseudogene Approved Xq12 Xq12 2010-03-11 2014-11-28 100129692 ENSG00000237294 OTTHUMG00000021731 NG_022999 PGOHUM00000304676 HGNC:37942 +HGNC:3287 EIF4E eukaryotic translation initiation factor 4E protein-coding gene gene with protein product Approved 4q23 04q23 EIF4E1 "EIF4EL1|EIF4F" 1991-07-09 2015-08-25 1977 ENSG00000151247 OTTHUMG00000161090 uc003hue.3 M15353 NM_001968 "CCDS54779|CCDS82940|CCDS47109|CCDS34031" P06730 "9330633|1916814" MGI:95305 RGD:69647 133440 225299 HGNC:3287 "ENST00000450253.7|NM_001968.5" +HGNC:33179 EIF4E1B eukaryotic translation initiation factor 4E family member 1B protein-coding gene gene with protein product Approved 5q35.2 05q35.2 FLJ36951 2006-11-13 2015-08-25 253314 ENSG00000175766 OTTHUMG00000163227 uc010jkf.1 NM_001099408 CCDS47345 A6NMX2 16191198 MGI:2685119 RGD:1585494 HGNC:33179 "ENST00000318682.11|NM_001099408.2" +HGNC:3293 EIF4E2 eukaryotic translation initiation factor 4E family member 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "IF4e|4EHP" EIF4EL3 eukaryotic translation initiation factor 4E-like 3 1999-07-22 2004-10-30 2006-11-13 2015-08-25 9470 ENSG00000135930 OTTHUMG00000133256 uc002vta.5 AF038957 NM_004846 "CCDS82579|CCDS74671|CCDS63158|CCDS63159|CCDS2496" O60573 "9653160|9582349" MGI:1914440 RGD:1307790 605895 HGNC:3293 "ENST00000258416.8|NM_004846.4" +HGNC:16237 EIF4E2P1 eukaryotic translation initiation factor 4E family member 2 pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ1049G11.3 EIF4EL4 eukaryotic translation initiation factor 4E-like 4 2001-07-17 2004-10-30 2006-11-13 2014-11-28 128770 ENSG00000213384 OTTHUMG00000032008 NG_005202 PGOHUM00000297065 HGNC:16237 +HGNC:51464 EIF4E2P2 eukaryotic translation initiation factor 4E family member 2 pseudogene 2 pseudogene pseudogene Approved 3q13.31 03q13.31 2014-11-28 2014-11-28 645207 ENSG00000244157 OTTHUMG00000159302 NG_022265 PGOHUM00000299541 HGNC:51464 +HGNC:31837 EIF4E3 eukaryotic translation initiation factor 4E family member 3 protein-coding gene gene with protein product Approved 3p13 03p13 MGC39820 eukaryotic translation initiation factor 4E member 3 2004-10-29 2006-11-13 2016-10-05 317649 ENSG00000163412 OTTHUMG00000158797 uc003dov.5 AK126999 NM_173359 "CCDS33786|CCDS46867" Q8N5X7 15153109 MGI:1914142 RGD:1586185 609896 HGNC:31837 "ENST00000425534.8|NM_001134651.2" +HGNC:3288 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "PHAS-I|4E-BP1" phosphorylated heat- and acid-stable protein regulated by insulin 1 1996-10-26 2016-10-05 1978 ENSG00000187840 OTTHUMG00000164012 uc003xks.4 NM_004095 CCDS6100 Q13541 7935836 MGI:103267 RGD:620259 602223 HGNC:3288 "ENST00000338825.5|NM_004095.4" +HGNC:20160 EIF4EBP1P1 eukaryotic translation initiation factor 4E binding protein 1 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 EIF4EBP1P eukaryotic translation initiation factor 4E binding protein 1 pseudogene 2003-01-13 2012-05-29 2012-05-29 2014-11-28 326295 ENSG00000258870 OTTHUMG00000170805 NG_002547 PGOHUM00000292580 HGNC:20160 +HGNC:44047 EIF4EBP1P2 eukaryotic translation initiation factor 4E binding protein 1 pseudogene 2 pseudogene pseudogene Approved 22q11.23 alternate reference locus 22q11.23 alternate reference locus 2012-05-29 2012-05-29 2014-10-10 768328 KI270879 NG_005781 PGOHUM00000246533 +HGNC:3289 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 1996-10-26 2016-10-05 1979 ENSG00000148730 OTTHUMG00000018409 uc001jrb.4 NM_004096 CCDS7303 Q13542 "7935836|8975712" MGI:109198 RGD:1310824 602224 HGNC:3289 "ENST00000373218.5|NM_004096.5" +HGNC:16596 EIF4EBP2P1 eukaryotic translation initiation factor 4E binding protein 2 pseudogene 1 pseudogene pseudogene Approved 20q13.11 20q13.11 dJ862K6.3 EIF4EBP2P eukaryotic translation initiation factor 4E binding protein 2 pseudogene 2001-09-17 2013-10-16 2013-10-16 2014-11-28 170510 ENSG00000233711 OTTHUMG00000032500 AL031681 NG_001034 PGOHUM00000297000 HGNC:16596 +HGNC:49317 EIF4EBP2P2 eukaryotic translation initiation factor 4E binding protein 2 pseudogene 2 pseudogene pseudogene Approved 15q15.2 15q15.2 2013-10-16 2014-11-28 100190923 ENSG00000260282 OTTHUMG00000175800 NG_008682 PGOHUM00000292924 HGNC:49317 +HGNC:49318 EIF4EBP2P3 eukaryotic translation initiation factor 4E binding protein 2 pseudogene 3 pseudogene pseudogene Approved 6q16.1 06q16.1 2013-10-16 2014-11-28 100190924 ENSG00000220505 OTTHUMG00000015253 NG_008683 PGOHUM00000301485 HGNC:49318 +HGNC:3290 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 4E-BP3 1998-11-18 2015-08-25 8637 ENSG00000243056 OTTHUMG00000129498 uc003lfy.1 AF038869 NM_003732 CCDS4226 O60516 9593750 MGI:1270847 RGD:2324556 603483 HGNC:3290 "ENST00000310331.3|NM_003732.3" +HGNC:16687 EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "4E-T|FLJ21601|Clast4|2610509L04Rik" 4E-transporter 2002-06-18 2020-01-08 56478 ENSG00000184708 OTTHUMG00000030793 uc003ala.3 AF240775 NM_019843 "CCDS13898|CCDS54520" Q9NRA8 10856257 MGI:1921453 RGD:1560908 607445 367352 HGNC:16687 "ENST00000330125.10|NM_019843.4" +HGNC:3292 EIF4EP1 eukaryotic translation initiation factor 4E pseudogene 1 pseudogene pseudogene Approved 20p12.3 20p12.3 dJ1022P6.3 EIF4EL2 eukaryotic translation initiation factor 4E-like 2 1991-03-04 2004-10-29 2004-10-29 2014-11-28 1980 ENSG00000233578 OTTHUMG00000031807 AL109935 NG_002658 "1916814|9468520" PGOHUM00000297042 HGNC:3292 +HGNC:32428 EIF4EP2 eukaryotic translation initiation factor 4E pseudogene 2 pseudogene pseudogene Approved 17q21.33 17q21.33 2007-07-24 2020-04-20 100131693 ENSG00000229944 OTTHUMG00000132439 NG_023334 PGOHUM00000294150 HGNC:32428 +HGNC:51461 EIF4EP3 eukaryotic translation initiation factor 4E pseudogene 3 pseudogene pseudogene Approved 3q26.33 03q26.33 2014-11-28 2014-11-28 100132918 ENSG00000244199 OTTHUMG00000158292 NG_022231 PGOHUM00000299294 HGNC:51461 +HGNC:51462 EIF4EP4 eukaryotic translation initiation factor 4E pseudogene 4 pseudogene pseudogene Approved 7q21.11 07q21.11 2014-11-28 2014-11-28 100421455 ENSG00000232968 OTTHUMG00000155411 NG_026487 PGOHUM00000302332 HGNC:51462 +HGNC:51463 EIF4EP5 eukaryotic translation initiation factor 4E pseudogene 5 pseudogene pseudogene Approved 8p22 08p22 2014-11-28 2014-11-28 100131565 ENSG00000214366 OTTHUMG00000165492 NG_008899 PGOHUM00000303463 HGNC:51463 +HGNC:3296 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "p220|PARK18" "EIF4G|EIF4F" eukaryotic translation initiation factor 4 gamma, 1 "Small nucleolar RNA protein coding host genes|MIF4G domain containing proteins" "1835|2128" 1993-06-17 2016-02-03 2016-04-25 1981 ENSG00000114867 OTTHUMG00000156784 uc003fnp.4 D12686 NM_182917 "CCDS3260|CCDS3259|CCDS3261|CCDS54687|CCDS46970|CCDS77866|CCDS54688" Q04637 "1429670|9372926|21907011" MGI:2384784 RGD:1306144 600495 285068 HGNC:3296 "ENST00000346169.7|NM_198241.3" HGNC:3296 +HGNC:3297 EIF4G2 eukaryotic translation initiation factor 4 gamma 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "DAP5|NAT1|p97" eukaryotic translation initiation factor 4 gamma, 2 "Small nucleolar RNA protein coding host genes|MIF4G domain containing proteins" "1835|2128" 1998-02-17 2016-02-03 2016-10-05 1982 ENSG00000110321 OTTHUMG00000165823 uc057zbi.1 U73824 NM_001418 "CCDS41618|CCDS31428" P78344 "9030685|9032289" MGI:109207 RGD:1305294 602325 HGNC:3297 "ENST00000339995.11|NM_001418.4" +HGNC:3298 EIF4G3 eukaryotic translation initiation factor 4 gamma 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 eIF4GII eukaryotic translation initiation factor 4 gamma, 3 "MicroRNA protein coding host genes|MIF4G domain containing proteins" "1691|2128" 1998-11-30 2016-02-03 2016-02-03 8672 ENSG00000075151 OTTHUMG00000002624 uc057daj.1 AF012072 NM_003760 "CCDS214|CCDS55580|CCDS72723|CCDS59192" O43432 9418880 MGI:1923935 RGD:1311370 603929 HGNC:3298 "ENST00000602326.6|NM_001391906.1" +HGNC:12741 EIF4H eukaryotic translation initiation factor 4H protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WSCR1|KIAA0038" WBSCR1 Williams-Beuren syndrome chromosome region 1 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 1997-09-12 2006-11-27 2006-11-27 2014-11-19 7458 ENSG00000106682 OTTHUMG00000023025 uc003uad.2 NM_022170 "CCDS5564|CCDS5565" Q15056 "9516461|15078951" MGI:1341822 RGD:1359222 603431 HGNC:12741 "ENST00000265753.13|NM_022170.2" +HGNC:49035 EIF4HP1 eukaryotic translation initiation factor 4H pseudogene 1 pseudogene pseudogene Approved 7p15.2 07p15.2 2013-08-15 2014-11-28 401316 ENSG00000233830 OTTHUMG00000152711 NG_004756 PGOHUM00000302081 HGNC:49035 +HGNC:49036 EIF4HP2 eukaryotic translation initiation factor 4H pseudogene 2 pseudogene pseudogene Approved 22q12.2 22q12.2 2013-08-15 2014-11-28 100421545 ENSG00000237977 OTTHUMG00000151158 NG_027477 PGOHUM00000297738 HGNC:49036 +HGNC:3299 EIF5 eukaryotic translation initiation factor 5 protein-coding gene gene with protein product Approved 14q32.32 14q32.32 Small nucleolar RNA protein coding host genes 1835 1991-03-04 2014-11-28 1983 ENSG00000100664 OTTHUMG00000171839 uc001ymq.5 U49436 NM_001969 CCDS9980 P55010 8663286 MGI:95309 RGD:619861 601710 HGNC:3299 "ENST00000216554.8|NM_001969.5" +HGNC:56080 EIF5-DT EIF5 divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.32 14q32.32 Divergent transcripts 1990 2021-12-15 2021-12-15 123706522 ENSG00000259775 +HGNC:3300 EIF5A eukaryotic translation initiation factor 5A protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "EIF5A1|EIF-5A|MGC99547|MGC104255" 1991-03-04 2016-10-05 1984 ENSG00000132507 OTTHUMG00000102197 uc010vtv.3 NM_001970 "CCDS11099|CCDS45601" P63241 7759117 MGI:106248 RGD:1308029 600187 HGNC:3300 "ENST00000336458.13|NM_001970.5" +HGNC:3301 EIF5A2 eukaryotic translation initiation factor 5A2 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 2000-08-11 2015-09-11 56648 ENSG00000163577 OTTHUMG00000158958 uc003fhd.4 AF293386 NM_020390 CCDS3214 Q9GZV4 MGI:1933735 RGD:1306196 605782 HGNC:3301 "ENST00000295822.7|NM_020390.6" +HGNC:51467 EIF5A2P1 eukaryotic translation initiation factor 5A2 pseudogene 1 pseudogene pseudogene Approved 15q23 15q23 2014-11-28 2014-11-28 100506058 ENSG00000260576 OTTHUMG00000172845 NG_030230 PGOHUM00000293002 HGNC:51467 +HGNC:17419 EIF5AL1 eukaryotic translation initiation factor 5A like 1 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 bA342M3.3 EIF5AP1 eukaryotic translation initiation factor 5A pseudogene 1 2004-05-27 2019-02-18 2019-02-18 143244 ENSG00000253626 OTTHUMG00000018563 uc009xrx.4 NM_001099692 CCDS53546 Q6IS14 MGI:106248 HGNC:17419 "ENST00000520547.4|NM_001099692.2" +HGNC:3303 EIF5AP2 eukaryotic translation initiation factor 5A pseudogene 2 pseudogene pseudogene Approved 17q25.3 17q25.3 1994-09-06 2014-11-28 1986 ENSG00000267679 OTTHUMG00000177447 S72038 NG_002746 "7545941|7759117" PGOHUM00000294551 HGNC:3303 +HGNC:3304 EIF5AP3 eukaryotic translation initiation factor 5A pseudogene 3 pseudogene pseudogene Approved 19q13.32 19q13.32 1995-02-17 2014-11-28 1987 ENSG00000267346 OTTHUMG00000181771 S72026 NG_002725 7759117 PGOHUM00000295390 HGNC:3304 +HGNC:31442 EIF5AP4 eukaryotic translation initiation factor 5A pseudogene 4 pseudogene pseudogene Approved 10q22.3 10q22.3 EIF5AL3 eukaryotic translation initiation factor 5A-like 3 2004-05-27 2012-04-19 2012-04-19 2016-10-05 642592 ENSG00000234743 OTTHUMG00000018608 NG_006529 PGOHUM00000289929 HGNC:31442 +HGNC:30793 EIF5B eukaryotic translation initiation factor 5B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "IF2|KIAA0741|DKFZp434I036|FLJ10524" translation initiation factor IF2 2004-01-09 2014-11-19 9669 ENSG00000158417 OTTHUMG00000153242 uc002tab.4 AF078035 NM_015904 CCDS42721 O60841 "10200264|10432305" MGI:2441772 RGD:735017 606086 HGNC:30793 "ENST00000289371.11|NM_015904.4" +HGNC:51465 EIF5P1 eukaryotic translation initiation factor 5 pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 2014-11-28 2014-11-28 100421390 ENSG00000215319 OTTHUMG00000021119 NG_026657 PGOHUM00000304508 HGNC:51465 +HGNC:51466 EIF5P2 eukaryotic translation initiation factor 5 pseudogene 2 pseudogene pseudogene Approved Xp22.12 Xp22.12 2014-11-28 2014-11-28 100421391 ENSG00000275800 OTTHUMG00000188005 NG_026664 PGOHUM00000304527 HGNC:51466 +HGNC:6159 EIF6 eukaryotic translation initiation factor 6 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "p27BBP|b(2)gcn" "EIF3A|ITGB4BP" integrin beta 4 binding protein Ribosomal biogenesis factors 1729 1998-03-24 2007-07-27 2007-07-27 2016-10-05 3692 ENSG00000242372 OTTHUMG00000032328 uc002xbx.3 Y11435 NM_002212 "CCDS13250|CCDS13249" P56537 "9374518|9740680" MGI:1196288 RGD:1305373 602912 HGNC:6159 "ENST00000374450.8|NM_002212.4" HGNC:6159 +HGNC:12383 EIPR1 EARP complex and GARP complex interacting protein 1 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 EIPR-1 TSSC1 tumor suppressing subtransferable candidate 1 WD repeat domain containing 362 1998-06-22 2017-05-09 2017-05-09 2017-05-09 7260 ENSG00000032389 OTTHUMG00000090329 uc002qxj.3 AF019952 NM_003310 "CCDS82416|CCDS1651" Q53HC9 "9403053|9925925" MGI:1289332 RGD:1305817 608998 HGNC:12383 "ENST00000382125.9|NM_003310.5" +HGNC:41392 EIPR1-IT1 EIPR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 TSSC1-IT1 "TSSC1 intronic transcript 1 (non-protein coding)|TSSC1 intronic transcript 1" Intronic transcripts 1989 2011-05-19 2017-05-09 2017-05-09 2017-05-09 100874301 ENSG00000224885 OTTHUMG00000151430 uc061gdt.1 TSSC1-IT1 +HGNC:14197 ELAC1 elaC ribonuclease Z 1 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 D29 "tRNA Z (short form)|RNaseZ(S)" "elaC (E. coli) homolog 1|elaC homolog 1 (E. coli)" "MBL fold containing DNA/RNA interacting subfamily|Endoribonucleases" "1615|1687" 2000-12-12 2013-05-24 2016-10-05 55520 ENSG00000141642 OTTHUMG00000132695 uc002lez.4 AB029151 NM_018696 CCDS11949 Q9H777 "12711671|21559454" MGI:1890495 RGD:1304757 608079 3.1.26.11 HGNC:14197 "ENST00000269466.8|NM_018696.3" +HGNC:14198 ELAC2 elaC ribonuclease Z 2 protein-coding gene gene with protein product Approved 17p12 17p12 "FLJ10530|HPC2" tRNase Z (long form) "elaC (E. coli) homolog 2|elaC homolog 2 (E. coli)" "MBL fold containing DNA/RNA interacting subfamily|Endoribonucleases" "1615|1687" 2000-12-14 2013-05-24 2016-10-05 60528 ENSG00000006744 OTTHUMG00000058764 uc002gnz.5 AF304370 NM_001165962 "CCDS11164|CCDS54093" Q9BQ52 "10986046|16636667|21559454" MGI:1890496 RGD:628882 605367 121513 3.1.26.11 HGNC:14198 "ENST00000338034.9|NM_018127.7" HGNC:14198 +HGNC:3309 ELANE elastase, neutrophil expressed protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "NE|HNE|HLE|PMN-E" "neutrophil elastase|leukocyte elastase|medullasin|PMN Elastase|polymorphonuclear leukocyte elastase" ELA2 elastase 2, neutrophil "Granule associated serine proteases of immune defence|Complement system regulators and receptors" "1636|1639" 1989-09-08 2009-05-05 2009-05-05 2021-05-26 1991 ENSG00000197561 OTTHUMG00000181839 uc002lqb.4 NM_001972 CCDS12045 P08246 2902087 MGI:2679229 RGD:1307968 "ELA2base: Mutation registry for Cyclic and congenital neutropenia|http://structure.bmc.lu.se/idbase/ELA2base/|LRG_57|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_57.xml" 130130 121511 S01.131 objectId:2358 3.4.21.37 HGNC:3309 "ENST00000263621.2|NM_001972.4" HGNC:3309 +HGNC:29618 ELAPOR1 endosome-lysosome associated apoptosis and autophagy regulator 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "maba1|EIG121" estrogen induced gene 121 KIAA1324 KIAA1324 2005-05-17 2020-02-28 2020-02-28 2020-02-28 57535 ENSG00000116299 OTTHUMG00000011725 uc021orb.2 AK057647 NM_020775 "CCDS58015|CCDS794" Q6UXG2 "10718198|16322283|21072319" MGI:1923930 RGD:1310209 611298 HGNC:29618 "ENST00000369939.8|NM_020775.5" +HGNC:21945 ELAPOR2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "FLJ31340|EIG121L" EIG121-like KIAA1324L KIAA1324 like 2005-05-17 2020-02-28 2020-02-28 2020-03-05 222223 ENSG00000164659 OTTHUMG00000153995 uc011kha.4 AK055902 NM_152748 "CCDS47632|CCDS34677" A8MWY0 21177533 MGI:2443264 RGD:1563349 614048 HGNC:21945 "ENST00000450689.7|NM_001142749.3" +HGNC:3312 ELAVL1 ELAV like RNA binding protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HuR|Hua|MelG" "embryonic lethal, abnormal vision, drosophila, homolog-like 1|Hu antigen R" HUR ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) RNA binding motif containing 725 1996-08-12 2013-10-03 2015-07-22 1994 ENSG00000066044 OTTHUMG00000182470 uc060ssp.1 U38175 NM_001419 CCDS12193 Q15717 "8626503|9003489" MGI:1100851 RGD:1308649 603466 HGNC:3312 "ENST00000407627.7|NM_001419.3" +HGNC:3313 ELAVL2 ELAV like RNA binding protein 2 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "HuB|HEL-N1" Hu antigen B "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)|ELAV like neuron-specific RNA binding protein 2" RNA binding motif containing 725 1996-11-15 2016-08-22 2016-10-05 1993 ENSG00000107105 OTTHUMG00000019700 uc003zpu.4 BC030692 NM_004432 "CCDS87645|CCDS55298|CCDS6515" Q12926 8812435 MGI:1100887 RGD:628611 601673 HGNC:3313 "ENST00000397312.7|NM_004432.5" +HGNC:3314 ELAVL3 ELAV like RNA binding protein 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HUC|PLE21|DKFZp547J036|HUCL|MGC20653" "Hu antigen C|paraneoplastic limbic encephalitis antigen 21|paraneoplastic cerebellar degeneration-associated antigen|ELAV-like protein 3" "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)|ELAV like neuron-specific RNA binding protein 3" RNA binding motif containing 725 1997-07-04 2016-08-22 2016-08-22 1995 ENSG00000196361 OTTHUMG00000182030 uc002mry.2 NM_001420 "CCDS32912|CCDS45978" Q14576 9799595 MGI:109157 RGD:628892 603458 HGNC:3314 "ENST00000359227.8|NM_001420.4" +HGNC:3315 ELAVL4 ELAV like RNA binding protein 4 protein-coding gene gene with protein product Approved 1p33-p32.3 01p33-p32.3 PNEM Hu antigen D HUD "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4|ELAV like neuron-specific RNA binding protein 4" RNA binding motif containing 725 1993-07-12 2016-08-22 2018-02-13 1996 ENSG00000162374 OTTHUMG00000007877 uc010omz.3 AY033998 NM_021952 "CCDS81321|CCDS44140|CCDS44139|CCDS44138|CCDS53315|CCDS553|CCDS72788" P26378 8222755 MGI:107427 RGD:1560027 168360 HGNC:3315 "ENST00000371824.7|NM_001144774.3" +HGNC:40210 ELAVL4-AS1 ELAVL4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 Antisense RNAs 1987 2019-07-25 2019-07-25 107984955 ENSG00000237337 OTTHUMG00000007879 XR_001738045 HGNC:40210 +HGNC:49511 ELDR EGFR long non-coding downstream RNA non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Fabl LINC01156 long intergenic non-protein coding RNA 1156 Long non-coding RNAs with non-systematic symbols 1992 2014-01-01 2014-05-20 2014-05-20 2019-06-07 102725541 ENSG00000280890 OTTHUMG00000189565 DB084610 NR_110426 26034286 MGI:1919985 618217 HGNC:49511 +HGNC:3316 ELF1 E74 like ETS transcription factor 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 E74-like factor 1 (ets domain transcription factor) ETS transcription factor family 534 1995-03-23 2016-02-25 2016-10-05 1997 ENSG00000120690 OTTHUMG00000016783 uc001uxs.4 M82882 NM_172373 "CCDS9374|CCDS45043" P32519 1545787 MGI:107180 RGD:620697 189973 HGNC:3316 "ENST00000239882.7|NM_172373.4" +HGNC:3317 ELF2 E74 like ETS transcription factor 2 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "EU32|NERF|NERF-2|NERF-1A|NERF-1B" E74-like factor 2 (ets domain transcription factor) ETS transcription factor family 534 1996-04-12 2016-02-25 2016-10-05 1998 ENSG00000109381 OTTHUMG00000133383 uc003ihp.2 AF256222 NM_006874 "CCDS64063|CCDS82954|CCDS3744|CCDS64062|CCDS3745" Q15723 8756667 MGI:1916507 RGD:1310585 619798 HGNC:3317 "ENST00000686138.1|NM_001331036.3" +HGNC:33539 ELF2P1 ELF2 pseudogene 1 pseudogene pseudogene Approved Xq22.2 Xq22.2 E74-like factor 2 pseudogene 1 2007-07-25 2019-02-18 2020-06-03 100101917 ENSG00000234345 NG_006555 HGNC:33539 +HGNC:24610 ELF2P2 ELF2 pseudogene 2 pseudogene pseudogene Approved 6p25.3 06p25.3 E74-like factor 2 pseudogene 2 2007-07-25 2019-02-18 2019-02-18 260335 AF256220 NG_002340 9001422 HGNC:24610 +HGNC:24611 ELF2P3 ELF2 pseudogene 3 pseudogene pseudogene Approved 9q22.1 09q22.1 E74-like factor 2 pseudogene 3 2007-07-25 2019-02-18 2019-02-18 260336 ENSG00000232743 OTTHUMG00000020153 NG_002341 9001422 PGOHUM00000304363 HGNC:24611 +HGNC:33540 ELF2P4 ELF2 pseudogene 4 pseudogene pseudogene Approved 2q32.1 02q32.1 E74-like factor 2 pseudogene 4 2007-07-25 2019-02-18 2020-01-21 644935 ENSG00000225406 NG_006556 HGNC:33540 +HGNC:3318 ELF3 E74 like ETS transcription factor 3 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "EPR-1|ESE-1|ERT" ESX E74-like factor 3 (ets domain transcription factor, epithelial-specific ) ETS transcription factor family 534 1996-04-12 2016-02-25 2016-10-05 1999 ENSG00000163435 OTTHUMG00000035867 uc001gxg.5 AF016295 NM_004433 CCDS1419 P78545 "9395241|9129154" MGI:1101781 RGD:1310687 602191 HGNC:3318 "ENST00000367284.10|NM_004433.5" +HGNC:40211 ELF3-AS1 ELF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 "ENST00000415582|SCAT7" S-phase cancer-associated transcript 7 Antisense RNAs 1987 2017-01-06 2018-08-03 102723465 ENSG00000234678 OTTHUMG00000035865 NR_146472 "27997908|29491376" HGNC:40211 +HGNC:3319 ELF4 E74 like ETS transcription factor 4 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "MEF|ELFR" E74-like factor 4 (ets domain transcription factor) ETS transcription factor family 534 1996-10-11 2016-02-25 2021-04-13 2000 ENSG00000102034 OTTHUMG00000022390 uc004eve.5 U32645 NM_001421 CCDS14617 Q99607 8895518 MGI:1928377 RGD:1560743 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ELF4|LRG_335|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_335.xml" ELF4 300775 306189 HGNC:3319 "ENST00000308167.10|NM_001421.4" HGNC:3319 +HGNC:3320 ELF5 E74 like ETS transcription factor 5 protein-coding gene gene with protein product Approved 11p13 11p13 E74-like factor 5 (ets domain transcription factor) ETS transcription factor family 534 1998-04-22 2016-02-25 2016-10-05 2001 ENSG00000135374 OTTHUMG00000166451 uc001mvp.3 AF049703 NM_198381 "CCDS7893|CCDS58129|CCDS73273|CCDS7892" Q9UKW6 9840936 MGI:1335079 RGD:1305859 605169 HGNC:3320 "ENST00000257832.7|NM_001422.4" +HGNC:33154 ELFN1 extracellular leucine rich repeat and fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 PPP1R28 "extracellular leucine-rich repeat and fibronectin type III containing 1|protein phosphatase 1, regulatory subunit 28" "Fibronectin type III domain containing|Protein phosphatase 1 regulatory subunits" "555|694" 2007-09-24 2011-10-27 2016-06-06 2016-06-06 392617 ENSG00000225968 OTTHUMG00000151495 uc064aye.1 NM_001128636 CCDS59046 P0C7U0 17868438 MGI:2442479 RGD:1308787 614964 HGNC:33154 "ENST00000424383.5|NM_001128636.4" +HGNC:39071 ELFN1-AS1 ELFN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 MYCLo-2 Antisense RNAs 1987 2014-03-01 2020-04-20 101927125 ENSG00000236081 OTTHUMG00000151496 BX119057 NR_120508 "24707484|25663692" ELFN1-AS1 HGNC:39071 +HGNC:29396 ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "dJ63G5.3|KIAA1904" "LRRC62|PPP1R29" "leucine rich repeat containing 62|extracellular leucine-rich repeat and fibronectin type III containing 2|protein phosphatase 1, regulatory subunit 29" "Fibronectin type III domain containing|Protein phosphatase 1 regulatory subunits" "555|694" 2006-10-16 2011-10-27 2016-06-06 2016-06-06 114794 ENSG00000166897 OTTHUMG00000150558 uc003asq.4 BC041596 NM_052906 CCDS33642 Q5R3F8 17868438 MGI:3608416 RGD:1559693 HGNC:29396 "ENST00000402918.7|NM_052906.5" +HGNC:3321 ELK1 ETS transcription factor ELK1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 ELK1, member of ETS oncogene family ETS transcription factor family 534 1989-06-30 2019-01-21 2020-04-02 2002 ENSG00000126767 OTTHUMG00000021452 uc010nhv.5 M25269 NM_005229 "CCDS14283|CCDS59165" P19419 2539641 MGI:101833 RGD:1598663 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ELK1 311040 HGNC:3321 "ENST00000376983.8|NM_001114123.3" +HGNC:39021 ELK1P1 ELK1 pseudogene 1 pseudogene pseudogene Approved 7p13 07p13 2010-09-23 2019-01-21 2019-01-21 647102 ENSG00000234359 OTTHUMG00000159177 NG_006972 PGOHUM00000250863 HGNC:39021 +HGNC:3323 ELK2AP ETS transcription factor ELK2A, pseudogene pseudogene pseudogene Approved 14q32.33 14q32.33 ELK2.1 "ELK2|ELK2P1" "ELK2, member of ETS oncogene family, pseudogene 1|ELK2A, member of ETS oncogene family, pseudogene|ETS transcription factor ELK2A pseudogene" 1989-06-30 2010-02-01 2019-01-21 2019-01-21 2003 ENSG00000213140 OTTHUMG00000152492 AF080617 NR_046211 "9795224|10231026" PGOHUM00000247909 HGNC:3323 +HGNC:3324 ELK2BP ETS transcription factor ELK2B, pseudogene pseudogene pseudogene Approved 14q32.33 14q32.33 ELK2.2 ELK2P2 "ELK2, member of ETS oncogene family, pseudogene 2|ELK2B, member of ETS oncogene family, pseudogene" 1999-05-10 2010-02-01 2019-01-21 2019-01-21 9995 ENSG00000234402 OTTHUMG00000152473 AF080618 NG_046879 "9795224|10231026" PGOHUM00000247903 HGNC:3324 +HGNC:3325 ELK3 ETS transcription factor ELK3 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "ERP|NET|SAP2" SRF accessory protein 2 ELK3, ETS-domain protein (SRF accessory protein 2) ETS transcription factor family 534 1994-12-23 2019-01-21 2019-01-21 2004 ENSG00000111145 OTTHUMG00000170364 uc001teo.2 BC017371 NM_005230 CCDS9060 P41970 7851904 MGI:101762 RGD:1307764 600247 HGNC:3325 "ENST00000228741.8|NM_005230.4" +HGNC:3326 ELK4 ETS transcription factor ELK4 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 SAP1 SRF accessory protein 1 ELK4, ETS-domain protein (SRF accessory protein 1) ETS transcription factor family 534 1994-12-23 2019-01-21 2019-01-21 2005 ENSG00000158711 OTTHUMG00000037221 uc001hcy.3 M85165 NM_021795 "CCDS1457|CCDS1456" P28324 "7851904|8575773" MGI:102853 RGD:1310504 ELK4 600246 HGNC:3326 "ENST00000357992.9|NM_001973.4" +HGNC:23114 ELL elongation factor for RNA polymerase II protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "Men|ELL1|PPP1R68" "protein phosphatase 1, regulatory subunit 68|eleven-nineteen lysine-rich leukemia gene" C19orf17 "chromosome 19 open reading frame 17|elongation factor RNA polymerase II" "Protein phosphatase 1 regulatory subunits|Super elongation complex" "694|1280" 2003-09-17 2016-01-21 2016-10-05 8178 ENSG00000105656 OTTHUMG00000183364 uc002njh.3 U16282 NM_006532 CCDS12380 P55199 "7991593|8596958" MGI:109377 RGD:1311121 ELL 600284 HGNC:23114 "ENST00000262809.9|NM_006532.4" +HGNC:17064 ELL2 elongation factor for RNA polymerase II 2 protein-coding gene gene with protein product Approved 5q15 05q15 MRCCAT1 metastatic renal cell carcinoma-associated transcript 1 elongation factor, RNA polymerase II, 2 Super elongation complex 1280 2003-09-17 2016-03-01 2017-07-05 22936 ENSG00000118985 OTTHUMG00000122085 uc003klr.4 U88629 NM_012081 CCDS4080 O00472 9108030 MGI:2183438 RGD:1309296 601874 HGNC:17064 "ENST00000237853.9|NM_012081.6" +HGNC:39343 ELL2P1 elongation factor for RNA polymerase II 2 pseudogene 1 pseudogene pseudogene Approved 1q23.1 01q23.1 elongation factor, RNA polymerase II, 2 pseudogene 1 2010-11-29 2016-01-21 2016-01-21 646270 ENSG00000227295 OTTHUMG00000022442 NG_006626 PGOHUM00000244293 HGNC:39343 +HGNC:39344 ELL2P2 elongation factor for RNA polymerase II 2 pseudogene 2 pseudogene pseudogene Approved 4q28.3 04q28.3 elongation factor, RNA polymerase II, 2 pseudogene 2 2010-11-29 2016-01-21 2016-01-21 100421143 ENSG00000251051 OTTHUMG00000161251 NG_025163 PGOHUM00000245698 HGNC:39344 +HGNC:39345 ELL2P3 elongation factor for RNA polymerase II 2 pseudogene 3 pseudogene pseudogene Approved 13q21.33 13q21.33 elongation factor, RNA polymerase II, 2 pseudogene 3 2010-11-29 2016-03-11 2016-03-11 100533713 ENSG00000234765 OTTHUMG00000017046 NG_028874 PGOHUM00000248425 HGNC:39345 +HGNC:39346 ELL2P4 elongation factor for RNA polymerase II 2 pseudogene 4 pseudogene pseudogene Approved Xq27.3 Xq27.3 elongation factor, RNA polymerase II, 2 pseudogene 4 2010-11-29 2016-03-11 2016-03-11 100128690 ENSG00000226388 OTTHUMG00000022597 NG_022711 PGOHUM00000242063 HGNC:39346 +HGNC:23113 ELL3 elongation factor for RNA polymerase II 3 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 FLJ22637 elongation factor RNA polymerase II-like 3 Super elongation complex 1280 2003-09-17 2016-01-21 2016-10-05 80237 ENSG00000128886 OTTHUMG00000059936 uc001zsw.2 AF276512 NM_025165 CCDS10102 Q9HB65 10882741 MGI:2673679 RGD:1309917 609885 HGNC:23113 "ENST00000319359.8|NM_025165.3" +HGNC:16286 ELMO1 engulfment and cell motility 1 protein-coding gene gene with protein product Approved 7p14.2-p14.1 07p14.2-p14.1 "KIAA0281|CED12|ELMO-1|CED-12" engulfment and cell motility 1 (ced-12 homolog, C. elegans) "Engulfment and cell motility proteins|MicroRNA protein coding host genes" "543|1691" 2001-12-13 2006-01-20 2018-02-13 9844 ENSG00000155849 OTTHUMG00000023701 uc003tfk.3 AF398885 NM_130442 "CCDS5449|CCDS5450" Q92556 11595183 MGI:2153044 RGD:1308182 606420 HGNC:16286 "ENST00000310758.9|NM_014800.11" HGNC:16286 +HGNC:40765 ELMO1-AS1 ELMO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.2 07p14.2 ELMO1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-12 2012-08-15 2014-11-19 100861514 ENSG00000224101 OTTHUMG00000154988 uc032zka.1 DA058843 NR_104120 ELMO1-AS1 HGNC:40765 +HGNC:17233 ELMO2 engulfment and cell motility 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CED12|ELMO-2|CED-12|KIAA1834|FLJ11656" engulfment and cell motility 2 (ced-12 homolog, C. elegans) Engulfment and cell motility proteins 543 2001-12-13 2006-01-20 2021-05-26 63916 ENSG00000062598 OTTHUMG00000033070 uc002xru.2 AF398886 NM_022086 "CCDS13398|CCDS82623" Q96JJ3 11595183 MGI:2153045 RGD:1305784 606421 465978 HGNC:17233 "ENST00000290246.11|NM_133171.5" HGNC:17233 +HGNC:38008 ELMO2P1 engulfment and cell motility 2 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 2010-03-18 2015-02-02 729894 ENSG00000276172 OTTHUMG00000188345 NG_022962 PGOHUM00000246662 HGNC:38008 +HGNC:17289 ELMO3 engulfment and cell motility 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ13824|CED12|ELMO-3|CED-12" engulfment and cell motility 3 (ced-12 homolog, C. elegans) Engulfment and cell motility proteins 543 2001-12-13 2006-01-20 2015-09-11 79767 ENSG00000102890 OTTHUMG00000133570 uc002esa.4 NM_024712 CCDS10833 Q96BJ8 11595183 MGI:2679007 RGD:1304734 606422 HGNC:17289 "ENST00000393997.8|NM_024712.5" +HGNC:25334 ELMOD1 ELMO domain containing 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 DKFZp547C176 ELMO/CED-12 domain containing 1 ELMO domain containing 1813 2004-08-20 2016-02-29 2019-02-20 55531 ENSG00000110675 OTTHUMG00000166361 uc001pjm.4 AL359601 NM_018712 "CCDS44724|CCDS44723|CCDS76472" Q8N336 29222402 MGI:3583900 RGD:1564186 615456 HGNC:25334 "ENST00000265840.12|NM_018712.4" +HGNC:28111 ELMOD2 ELMO domain containing 2 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 MGC10084 ELMO/CED-12 domain containing 2 ELMO domain containing 1813 2004-08-20 2016-02-29 2016-02-29 255520 ENSG00000179387 OTTHUMG00000133417 uc003iik.3 BX648349 NM_153702 CCDS3752 Q8IZ81 16773575 MGI:2445165 RGD:1587598 610196 HGNC:28111 "ENST00000323570.8|NM_153702.4" +HGNC:26158 ELMOD3 ELMO domain containing 3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 FLJ21977 "RBM29|RBED1|DFNB88" "RNA binding motif protein 29|RNA binding motif and ELMO/CED-12 domain 1|deafness, autosomal recessive 88|ELMO/CED-12 domain containing 3" "RNA binding motif containing|ELMO domain containing" "725|1813" 2004-06-03 2008-08-14 2016-02-29 2016-02-29 84173 ENSG00000115459 OTTHUMG00000130170 uc002spg.5 AF258573 NM_032213 CCDS46352 Q96FG2 24039609 MGI:2445168 RGD:1306408 615427 364285 HGNC:26158 "ENST00000409013.8|NM_001135022.2" HGNC:26158 +HGNC:3327 ELN elastin protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WBS|WS|SVAS" "tropoelastin|supravalvular aortic stenosis|Williams-Beuren syndrome" 1986-01-01 2008-08-01 2016-10-05 2006 ENSG00000049540 OTTHUMG00000150229 uc003tzn.5 NM_000501 "CCDS43599|CCDS43598|CCDS64674|CCDS47611|CCDS47612|CCDS64676|CCDS64677|CCDS5562|CCDS64678|CCDS75616|CCDS75617|CCDS64675|CCDS64673" P15502 8096434 MGI:95317 RGD:67394 130160 121517 HGNC:3327 "ENST00000252034.12|NM_000501.4" HGNC:3327 +HGNC:40212 ELN-AS1 ELN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q11.23 07q11.23 CTB-51J22.1 Antisense RNAs 1987 2017-09-21 2017-09-21 107986809 ENSG00000232415 OTTHUMG00000157272 XR_001745243 28881755 HGNC:40212 +HGNC:11620 ELOA elongin A protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SIII|TCEB3A" TCEB3 "transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)|transcription elongation factor B subunit 3" Elongin complex 1392 1995-09-14 2016-10-31 2016-10-31 2017-02-10 6924 ENSG00000011007 OTTHUMG00000002957 uc057dgm.1 L47345 NM_003198 CCDS239 Q14241 "8586449|7660129" MGI:1351315 RGD:3827 600786 HGNC:11620 "ENST00000613537.5|NM_003198.3" +HGNC:50582 ELOA-AS1 ELOA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 TCEB3-AS1 TCEB3 antisense RNA 1 Antisense RNAs 1987 2014-05-21 2016-10-31 2016-10-31 2016-10-31 100506963 ENSG00000236810 OTTHUMG00000002959 NR_038280 HGNC:50582 +HGNC:30771 ELOA2 elongin A2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "HsT832|TCEB3L" transcription elongation factor (SIII) elongin A2 TCEB3B "transcription elongation factor B polypeptide 3B (elongin A2)|transcription elongation factor B subunit 3B" Elongin complex 1392 2004-01-16 2016-10-31 2016-10-31 2016-10-31 51224 ENSG00000206181 OTTHUMG00000132649 uc002lcr.2 BC036022 NM_016427 CCDS11932 Q8IYF1 "7660129|8244996" MGI:1351315 609522 HGNC:30771 "ENST00000332567.6|NM_016427.3" +HGNC:31007 ELOA3BP elongin A3 family member B, pseudogene pseudogene pseudogene Approved 18q21.1 18q21.1 HsT828 "TCEB3CL|ELOA3B" "transcription elongation factor B polypeptide 3C-like|transcription elongation factor B subunit 3C like|elongin A3 family member B" 2004-01-16 2020-06-25 2020-06-25 2021-07-29 728929 ENSG00000288607 OTTHUMG00000188257 uc060owu.1 NG_070698 MGI:1351315 HGNC:31007 +HGNC:52410 ELOA3CP elongin A3 family member C, pseudogene pseudogene pseudogene Approved 18q21.1 18q21.1 ELOA3C elongin A3 family member C 2016-11-02 2020-06-25 2020-06-25 2020-06-25 107983955 ENSG00000275553 OTTHUMG00000188256 NG_070699 HGNC:52410 +HGNC:33511 ELOA3DP elongin A3 family member D, pseudogene pseudogene pseudogene Approved 18q21.1 18q21.1 "TCEB3CL2|ELOA3D" "transcription elongation factor B polypeptide 3C-like 2|elongin A3 family member D" 2007-07-18 2020-06-25 2020-06-25 2021-10-07 100506888 ENSG00000288616 OTTHUMG00000180382 uc021ujk.2 NG_070700 MGI:1351315 RGD:1586821 HGNC:33511 +HGNC:24617 ELOA3P elongin A3, pseudogene other unknown Approved 18q21.1 18q21.1 "HsT829|TCEB3L2|ELOA3A|ELOA3AP" elongin A3 family member A "TCEB3C|ELOA3" "transcription elongation factor B polypeptide 3C (elongin A3)|transcription elongation factor B subunit 3C|elongin A3" 2004-01-16 2020-06-25 2020-06-25 2021-10-15 162699 ENSG00000288631 OTTHUMG00000132651 uc010xdb.2 AB076840 NG_016749 "11932239|11994304" HGNC:24617 +HGNC:54534 ELOAP1 ELOA pseudogene 1 pseudogene pseudogene Approved 2q14.3 02q14.3 2019-10-11 2020-01-21 100422580 ENSG00000235640 NG_023725 HGNC:54534 +HGNC:11619 ELOB elongin B protein-coding gene gene with protein product Approved 16p13.3 16p13.3 SIII TCEB2 "transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)|transcription elongation factor B subunit 2" Elongin complex 1392 1995-09-14 2016-10-31 2016-10-31 2016-10-31 6923 ENSG00000103363 OTTHUMG00000154125 uc002crn.4 L42856 NM_007108 "CCDS32374|CCDS45387" Q15370 7638163 MGI:1914923 RGD:621200 600787 HGNC:11619 "ENST00000409906.9|NM_007108.4" +HGNC:39719 ELOBP1 elongin B pseudogene 1 pseudogene pseudogene Approved 13q12.13 13q12.13 TCEB2P1 "transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 1|transcription elongation factor B subunit 2 pseudogene 1" 2011-03-24 2016-10-31 2016-10-31 2016-10-31 246717 ENSG00000234152 OTTHUMG00000016607 NG_001581 PGOHUM00000248339 HGNC:39719 +HGNC:39720 ELOBP2 elongin B pseudogene 2 pseudogene pseudogene Approved 11q24.3 11q24.3 TCEB2P2 "transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 2|transcription elongation factor B subunit 2 pseudogene 2" 2011-03-24 2016-10-31 2016-10-31 2016-10-31 253665 ENSG00000255262 OTTHUMG00000165765 NG_005176 PGOHUM00000242537 HGNC:39720 +HGNC:39721 ELOBP3 elongin B pseudogene 3 pseudogene pseudogene Approved 2p16.3 02p16.3 TCEB2P3 "transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 3|transcription elongation factor B subunit 2 pseudogene 3" 2011-03-24 2016-10-31 2016-10-31 2016-10-31 100856810 ENSG00000232285 OTTHUMG00000152104 NG_031883 PGOHUM00000240638 HGNC:39721 +HGNC:39722 ELOBP4 elongin B pseudogene 4 pseudogene pseudogene Approved 10p11.21 10p11.21 TCEB2P4 "transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) pseudogene 4|transcription elongation factor B subunit 2 pseudogene 4" 2011-03-24 2016-10-31 2016-10-31 2016-10-31 100874519 ENSG00000234167 OTTHUMG00000017943 NG_052602 PGOHUM00000238402 HGNC:39722 +HGNC:11617 ELOC elongin C protein-coding gene gene with protein product Approved 8q21.11 08q21.11 SIII TCEB1 "transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)|transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)|transcription elongation factor B subunit 1" Elongin complex 1392 1995-03-24 2016-10-31 2016-10-31 2016-10-31 6921 ENSG00000154582 OTTHUMG00000164501 uc003yaa.3 L34587 NM_005648 "CCDS34910|CCDS56539" Q15369 "7821821|7660122" MGI:1915173 RGD:620658 600788 HGNC:11617 "ENST00000520242.6|NM_005648.4" +HGNC:17762 ELOCP2 elongin C pseudogene 2 pseudogene pseudogene Approved 15q15.1 15q15.1 TCEB1P2 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 2|transcription elongation factor B subunit 1 pseudogene 2" 2004-04-05 2016-10-31 2016-10-31 2016-10-31 283747 ENSG00000259838 OTTHUMG00000172717 NG_003219 HGNC:17762 +HGNC:29457 ELOCP3 elongin C pseudogene 3 pseudogene pseudogene Approved 10p14 10p14 dJ254P11.1 TCEB1P3 "transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) pseudogene 3|transcription elongation factor B (SIII), polypeptide 1 pseudogene 3|transcription elongation factor B subunit 1 pseudogene 3" 2007-07-31 2016-10-31 2016-10-31 2016-10-31 644540 ENSG00000229919 OTTHUMG00000017656 NG_009727 PGOHUM00000238675 HGNC:29457 +HGNC:38141 ELOCP4 elongin C pseudogene 4 pseudogene pseudogene Approved Yp11.2 Yp11.2 TCEB1P4 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 4|transcription elongation factor B subunit 1 pseudogene 4" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462873 ENSG00000232924 OTTHUMG00000041409 NG_021935 PGOHUM00000233920 HGNC:38141 +HGNC:38140 ELOCP5 elongin C pseudogene 5 pseudogene pseudogene Approved Yq11.223 Yq11.223 TCEB1P5 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 5|transcription elongation factor B subunit 1 pseudogene 5" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100288493 ENSG00000271123 OTTHUMG00000185064 NG_004832 PGOHUM00000233800 HGNC:38140 +HGNC:38142 ELOCP6 elongin C pseudogene 6 pseudogene pseudogene Approved Yq11.222 Yq11.222 TCEB1P6 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 6|transcription elongation factor B subunit 1 pseudogene 6" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462867 ENSG00000225740 OTTHUMG00000041651 NG_004636 PGOHUM00000233764 HGNC:38142 +HGNC:38143 ELOCP7 elongin C pseudogene 7 pseudogene pseudogene Approved Yq11.222 Yq11.222 TCEB1P7 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 7|transcription elongation factor B subunit 1 pseudogene 7" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462868 ENSG00000230377 OTTHUMG00000041978 NG_021917 PGOHUM00000233775 HGNC:38143 +HGNC:38144 ELOCP8 elongin C pseudogene 8 pseudogene pseudogene Approved Yq11.223 Yq11.223 TCEB1P8 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 8|transcription elongation factor B subunit 1 pseudogene 8" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462869 ENSG00000234131 OTTHUMG00000043847 NG_021922 PGOHUM00000233813 HGNC:38144 +HGNC:38145 ELOCP9 elongin C pseudogene 9 pseudogene pseudogene Approved Yq11.23 Yq11.23 TCEB1P9 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 9|transcription elongation factor B subunit 1 pseudogene 9" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462870 ENSG00000231540 OTTHUMG00000044997 NG_021924 PGOHUM00000233831 HGNC:38145 +HGNC:38146 ELOCP10 elongin C pseudogene 10 pseudogene pseudogene Approved Yq11.23 Yq11.23 TCEB1P10 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 10|transcription elongation factor B subunit 1 pseudogene 10" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462871 ENSG00000234081 OTTHUMG00000045045 NG_021925 PGOHUM00000233836 HGNC:38146 +HGNC:38147 ELOCP11 elongin C pseudogene 11 pseudogene pseudogene Approved Yq12 Yq12 TCEB1P11 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 11|transcription elongation factor B subunit 1 pseudogene 11" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462872 ENSG00000227867 OTTHUMG00000045271 NG_021932 PGOHUM00000233880 HGNC:38147 +HGNC:38148 ELOCP12 elongin C pseudogene 12 pseudogene pseudogene Approved Yq11.222 Yq11.222 TCEB1P12 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 12|transcription elongation factor B subunit 1 pseudogene 12" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462874 ENSG00000230412 OTTHUMG00000041972 NG_004636 PGOHUM00000233979 HGNC:38148 +HGNC:38149 ELOCP13 elongin C pseudogene 13 pseudogene pseudogene Approved Yq11.222 Yq11.222 TCEB1P13 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 13|transcription elongation factor B subunit 1 pseudogene 13" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462875 ENSG00000225716 OTTHUMG00000041974 NG_004636 PGOHUM00000233989 HGNC:38149 +HGNC:38150 ELOCP14 elongin C pseudogene 14 pseudogene pseudogene Approved Yq11.222 Yq11.222 TCEB1P14 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 14|transcription elongation factor B subunit 1 pseudogene 14" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462876 ENSG00000228193 OTTHUMG00000041956 NG_028691 PGOHUM00000233997 HGNC:38150 +HGNC:38151 ELOCP15 elongin C pseudogene 15 pseudogene pseudogene Approved Yq11.223 Yq11.223 TCEB1P15 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 15|transcription elongation factor B subunit 1 pseudogene 15" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462877 ENSG00000232029 OTTHUMG00000043605 NG_004755 PGOHUM00000234021 HGNC:38151 +HGNC:38152 ELOCP16 elongin C pseudogene 16 pseudogene pseudogene Approved Yq11.23 Yq11.23 TCEB1P16 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 16|transcription elongation factor B subunit 1 pseudogene 16" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462878 ENSG00000227915 OTTHUMG00000044996 NG_004755 PGOHUM00000234042 HGNC:38152 +HGNC:38153 ELOCP17 elongin C pseudogene 17 pseudogene pseudogene Approved Yq12 Yq12 TCEB1P17 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 17|transcription elongation factor B subunit 1 pseudogene 17" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462879 ENSG00000232695 OTTHUMG00000045288 NG_004755 PGOHUM00000234091 HGNC:38153 +HGNC:38154 ELOCP18 elongin C pseudogene 18 pseudogene pseudogene Approved 1p31.3 01p31.3 TCEB1P18 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 18|transcription elongation factor B subunit 1 pseudogene 18" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100130626 ENSG00000237622 OTTHUMG00000009210 NG_022971 PGOHUM00000244065 HGNC:38154 +HGNC:38155 ELOCP19 elongin C pseudogene 19 pseudogene pseudogene Approved 1p22.2 01p22.2 TCEB1P19 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 19|transcription elongation factor B subunit 1 pseudogene 19" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462880 ENSG00000241975 OTTHUMG00000010612 NG_022789 PGOHUM00000244785 HGNC:38155 +HGNC:38156 ELOCP20 elongin C pseudogene 20 pseudogene pseudogene Approved 1p13.1 01p13.1 TCEB1P20 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 20|transcription elongation factor B subunit 1 pseudogene 20|elongin pseudogene 20" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100287778 ENSG00000229101 OTTHUMG00000011972 NG_028102 PGOHUM00000244863 HGNC:38156 +HGNC:38157 ELOCP21 elongin C pseudogene 21 pseudogene pseudogene Approved 2p13.3 02p13.3 TCEB1P21 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 21|transcription elongation factor B subunit 1 pseudogene 21" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462866 ENSG00000226186 OTTHUMG00000153748 NG_021506 PGOHUM00000240089 HGNC:38157 +HGNC:38158 ELOCP22 elongin C pseudogene 22 pseudogene pseudogene Approved 11q23.3 11q23.3 TCEB1P22 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 22|transcription elongation factor B subunit 1 pseudogene 22" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100287579 ENSG00000255006 OTTHUMG00000166091 NG_042194 PGOHUM00000290727 HGNC:38158 +HGNC:38159 ELOCP23 elongin C pseudogene 23 pseudogene pseudogene Approved 13q22.3 13q22.3 TCEB1P23 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 23|transcription elongation factor B subunit 1 pseudogene 23" 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100462881 ENSG00000224686 OTTHUMG00000017120 NG_021970 PGOHUM00000248640 HGNC:38159 +HGNC:38160 ELOCP24 elongin C pseudogene 24 pseudogene pseudogene Approved Xq28 and Yq12 Xq28 and Yq12 "TCEB1P25|TCEB1P24" "transcription elongation factor B (SIII), polypeptide 1 pseudogene 25|transcription elongation factor B (SIII), polypeptide 1 pseudogene 24|transcription elongation factor B subunit 1 pseudogene 24" Pseudoautosomal region 2 716 2010-04-21 2016-10-31 2016-10-31 2016-10-31 100287692 ENSG00000228410 OTTHUMG00000040493 NG_023013 PGOHUM00000241623 HGNC:38160 +HGNC:38731 ELOCP26 elongin C pseudogene 26 pseudogene pseudogene Approved Yq11.222 Yq11.222 TCEB1P26 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 26|transcription elongation factor B subunit 1 pseudogene 26" 2010-07-28 2016-10-31 2016-10-31 2020-06-26 118097967 ENSG00000236599 OTTHUMG00000041962 NG_070100 HGNC:38731 +HGNC:31692 ELOCP27 elongin C pseudogene 27 pseudogene pseudogene Approved 18p11.31 18p11.31 TCEB1P27 "transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) pseudogene 27|transcription elongation factor B subunit 1 pseudogene 27" 2012-06-27 2016-10-31 2016-10-31 2020-04-07 107133523 ENSG00000265545 NG_046681 PGOHUM00000234977 HGNC:31692 +HGNC:49169 ELOCP28 elongin C pseudogene 28 pseudogene pseudogene Approved 19p13.3 19p13.3 TCEB1P28 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 28|transcription elongation factor B subunit 1 pseudogene 28" 2013-09-24 2016-10-31 2016-10-31 2016-10-31 100287483 ENSG00000105694 OTTHUMG00000180543 NG_012739 PGOHUM00000263456 HGNC:49169 +HGNC:49170 ELOCP29 elongin C pseudogene 29 pseudogene pseudogene Approved 19p13.2 19p13.2 TCEB1P29 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 29|transcription elongation factor B subunit 1 pseudogene 29" 2013-09-24 2016-10-31 2016-10-31 2016-10-31 100132973 ENSG00000267418 OTTHUMG00000179933 NG_021739 PGOHUM00000234138 HGNC:49170 +HGNC:49171 ELOCP30 elongin C pseudogene 30 pseudogene pseudogene Approved 10q11.21 10q11.21 TCEB1P30 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 30|transcription elongation factor B subunit 1 pseudogene 30" 2013-09-24 2016-10-31 2016-10-31 2016-10-31 106481670 ENSG00000223746 OTTHUMG00000018045 NG_042952 PGOHUM00000238438 HGNC:49171 +HGNC:49172 ELOCP31 elongin C pseudogene 31 pseudogene pseudogene Approved 12p12.1 12p12.1 TCEB1P31 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 31|transcription elongation factor B subunit 1 pseudogene 31" 2013-09-24 2016-10-31 2016-10-31 2016-10-31 100422582 ENSG00000256021 OTTHUMG00000169130 NG_023990 PGOHUM00000239369 HGNC:49172 +HGNC:49173 ELOCP32 elongin C pseudogene 32 pseudogene pseudogene Approved 12q24.22 12q24.22 TCEB1P32 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 32|transcription elongation factor B subunit 1 pseudogene 32" 2013-09-24 2016-10-31 2016-10-31 2016-10-31 106481964 ENSG00000257465 OTTHUMG00000169496 NG_011991 PGOHUM00000239586 HGNC:49173 +HGNC:49174 ELOCP33 elongin C pseudogene 33 pseudogene pseudogene Approved 4p14 04p14 TCEB1P33 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 33|transcription elongation factor B subunit 1 pseudogene 33" 2013-09-24 2016-10-31 2016-10-31 2016-10-31 101928827 ENSG00000271278 OTTHUMG00000184983 PGOHUM00000245883 HGNC:49174 +HGNC:49175 ELOCP34 elongin C pseudogene 34 pseudogene pseudogene Approved Yq11.23 Yq11.23 TCEB1P34 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 34|transcription elongation factor B subunit 1 pseudogene 34" 2013-09-24 2016-10-31 2016-10-31 2016-10-31 106481671 ENSG00000270535 OTTHUMG00000185077 NG_042961 PGOHUM00000234086 HGNC:49175 +HGNC:49176 ELOCP35 elongin C pseudogene 35 pseudogene pseudogene Approved Yq11.221 Yq11.221 TCEB1P35 "transcription elongation factor B (SIII), polypeptide 1 pseudogene 35|transcription elongation factor B subunit 1 pseudogene 35" 2013-09-24 2016-10-31 2016-10-31 2016-10-31 106480250 ENSG00000271595 OTTHUMG00000185085 NG_043881 PGOHUM00000233754 HGNC:49176 +HGNC:54973 ELOCP36 elongin C pseudogene 36 pseudogene pseudogene Approved Yq11.222 Yq11.222 2020-05-13 2020-05-13 101059905 ENSG00000225896 NG_033276 +HGNC:28691 ELOF1 elongation factor 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC4549|ELF1" "elongation factor 1 homolog (ELF1, S. cerevisiae)|elongation factor 1 homolog (S. cerevisiae)|elongation factor 1 homolog" 2005-03-25 2021-08-11 2021-08-11 84337 ENSG00000130165 OTTHUMG00000182034 uc002mse.1 AK001171 NM_032377 CCDS12264 P60002 34108663 MGI:1913376 RGD:1587399 619818 HGNC:28691 +HGNC:14418 ELOVL1 ELOVL fatty acid elongase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Ssc1 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 MicroRNA protein coding host genes 1691 2001-01-18 2011-05-25 2021-05-26 64834 ENSG00000066322 OTTHUMG00000007422 uc001cjb.5 AK001653 NM_022821 "CCDS57987|CCDS485" Q9BW60 MGI:1858959 RGD:1587151 611813 HGNC:14418 "ENST00000372458.8|NM_022821.4" HGNC:14418 +HGNC:14416 ELOVL2 ELOVL fatty acid elongase 2 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 Ssc2 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2 2001-01-18 2011-05-25 2016-10-05 54898 ENSG00000197977 OTTHUMG00000014252 uc003mzp.5 AK000341 NM_017770 CCDS4518 Q9NXB9 "12371743|16564093" MGI:1858960 RGD:1308605 611814 HGNC:14416 "ENST00000354666.4|NM_017770.4" +HGNC:44156 ELOVL2-AS1 ELOVL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p24.2 06p24.2 ELOVL2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100506409 ENSG00000230314 OTTHUMG00000014251 uc021yln.2 BC038757 NR_038962 ELOVL2-AS1 HGNC:44156 +HGNC:18047 ELOVL3 ELOVL fatty acid elongase 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 CIG-30 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3 2002-01-22 2011-05-25 2016-10-05 83401 ENSG00000119915 OTTHUMG00000018951 uc001kut.5 AF292387 NM_152310 CCDS7531 Q9HB03 MGI:1195976 RGD:1307263 611815 HGNC:18047 "ENST00000370005.4|NM_152310.3" +HGNC:14415 ELOVL4 ELOVL fatty acid elongase 4 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 CT118 cancer/testis antigen 118 "STGD2|STGD3|SCA34" "elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4|spinocerebellar ataxia 34" 2001-01-18 2011-05-25 2021-05-26 6785 ENSG00000118402 OTTHUMG00000015087 uc003pja.5 AF277094 NM_022726 CCDS4992 Q9GZR5 "11138005|24566826" MGI:1933331 RGD:1305630 Mutations of the Elongation of Very Long Chain Fatty Acids-like Protein 4 Gene|http://www.retina-international.org/files/sci-news/elovlmut.htm 605512 121522 HGNC:14415 "ENST00000369816.5|NM_022726.4" HGNC:14415 +HGNC:21308 ELOVL5 ELOVL fatty acid elongase 5 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "HELO1|dJ483K16.1" SCA38 "ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)|spinocerebellar ataxia 38" 2003-06-12 2011-05-25 2021-05-26 60481 ENSG00000012660 OTTHUMG00000016249 uc003pbr.3 AF052129 NM_021814 "CCDS75470|CCDS56433|CCDS56434|CCDS4951" Q9NYP7 "10970790|25065913" MGI:1916051 RGD:620583 611805 432003 HGNC:21308 "ENST00000304434.11|NM_021814.5" HGNC:21308 +HGNC:15829 ELOVL6 ELOVL fatty acid elongase 6 protein-coding gene gene with protein product Approved 4q25 04q25 "FLJ23378|MGC5487|LCE" ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) 2003-06-06 2011-05-25 2014-11-19 79071 ENSG00000170522 OTTHUMG00000132547 uc003hzz.4 AK027031 NM_024090 CCDS3690 Q9H5J4 11567032 MGI:2156528 RGD:620585 611546 HGNC:15829 "ENST00000302274.8|NM_024090.3" +HGNC:26292 ELOVL7 ELOVL fatty acid elongase 7 protein-coding gene gene with protein product Approved 5q12.1 05q12.1 FLJ23563 ELOVL family member 7, elongation of long chain fatty acids (yeast) 2004-05-17 2011-05-25 2015-09-11 79993 ENSG00000164181 OTTHUMG00000162254 uc003jsi.5 AK027216 NM_001104558 "CCDS34164|CCDS78013" A1L3X0 19826053 MGI:1921809 RGD:1310560 614451 HGNC:26292 "ENST00000508821.6|NM_024930.3" +HGNC:5959 ELP1 elongator acetyltransferase complex subunit 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "IKAP|TOT1|IKI3" "DYS|IKBKAP" "dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)|inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein|elongator complex protein 1" Elongator acetyltransferase complex 539 1998-09-30 2017-05-04 2020-09-23 2021-05-26 8518 ENSG00000070061 OTTHUMG00000020465 uc004bdm.5 AF044195 NM_001318360 "CCDS83394|CCDS6773" O95163 "9751059|11179008" MGI:1914544 RGD:620072 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_251|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_251.xml" 603722 122607 HGNC:5959 "ENST00000374647.10|NM_003640.5" HGNC:5959 +HGNC:18248 ELP2 elongator acetyltransferase complex subunit 2 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "FLJ10879|StIP" STATIP1 "signal transducer and activator of transcription 3 interacting protein 1|elongation protein 2 homolog (S. cerevisiae)" "WD repeat domain containing|Elongator acetyltransferase complex " "362|539" 2003-03-20 2007-04-20 2012-08-08 2021-05-26 55250 ENSG00000134759 OTTHUMG00000132589 uc002kzk.4 AK001741 NM_018255 "CCDS56065|CCDS11918|CCDS56067|CCDS56066|CCDS56068|CCDS56069" Q6IA86 "11714725|10954736" MGI:1889642 RGD:1306419 616054 470270 HGNC:18248 "ENST00000358232.11|NM_018255.4" HGNC:18248 +HGNC:20696 ELP3 elongator acetyltransferase complex subunit 3 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "FLJ10422|KAT9" elongation protein 3 homolog (S. cerevisiae) "Lysine acetyltransferases|Elongator acetyltransferase complex |GCN5 related N-acetyltransferases|Radical S-adenosylmethionine domain containing" "486|539|1134|2036" 2003-03-20 2012-08-08 2014-11-19 55140 ENSG00000134014 OTTHUMG00000102124 uc003xgn.6 NM_018091 "CCDS64860|CCDS64861|CCDS75718|CCDS75717|CCDS6065" Q9H9T3 11714725 MGI:1921445 RGD:2324506 612722 objectId:2653 HGNC:20696 "ENST00000256398.13|NM_018091.6" +HGNC:1171 ELP4 elongator acetyltransferase complex subunit 4 protein-coding gene gene with protein product Approved 11p13 11p13 PAXNEB C11orf19 "chromosome 11 open reading frame 19|elongation protein 4 homolog (S. cerevisiae)" Elongator acetyltransferase complex 539 1999-12-14 2002-05-24 2012-08-08 2021-05-26 26610 ENSG00000109911 OTTHUMG00000142919 uc001mtb.5 AJ276005 NM_019040 "CCDS7875|CCDS73272|CCDS73271" Q96EB1 "11889558|11435442" MGI:1925016 RGD:1566052 606985 HGNC:1171 "ENST00000640961.2|NM_019040.5" HGNC:1171 +HGNC:30617 ELP5 elongator acetyltransferase complex subunit 5 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 DERP6 "dermal papilla derived protein 6|S-phase 2 protein" C17orf81 chromosome 17 open reading frame 81 Elongator acetyltransferase complex 539 2006-02-13 2012-08-08 2012-08-08 2014-11-19 23587 ENSG00000170291 OTTHUMG00000177974 uc002gfg.2 BC002762 NM_015362 "CCDS11095|CCDS11094" Q8TE02 22854966 MGI:1859017 RGD:1303303 615019 HGNC:30617 "ENST00000396628.7|NM_203414.3" +HGNC:25976 ELP6 elongator acetyltransferase complex subunit 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ20211 "TMEM103|C3orf75" "transmembrane protein 103|chromosome 3 open reading frame 75" Elongator acetyltransferase complex 539 2005-12-19 2012-08-08 2012-08-08 2014-11-19 54859 ENSG00000163832 OTTHUMG00000133521 uc003crk.4 AK000218 NM_017713 "CCDS43082|CCDS87073" Q0PNE2 22854966 MGI:1919349 RGD:1305478 615020 HGNC:25976 "ENST00000296149.9|NM_001031703.3" +HGNC:14417 ELSPBP1 epididymal sperm binding protein 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "HE12|E12|EDDM12" epididymal protein 12 2001-01-22 2019-08-20 64100 ENSG00000169393 OTTHUMG00000183138 uc002pht.4 AJ278478 NM_022142 CCDS12708 Q96BH3 607443 HGNC:14417 "ENST00000339841.7|NM_022142.5" +HGNC:30465 EMB embigin protein-coding gene gene with protein product Approved 5q11.1 05q11.1 MGC71745 embigin homolog (mouse) "I-set domain containing|Basigin family " "593|1669" 2004-11-30 2010-06-24 2014-11-19 133418 ENSG00000170571 OTTHUMG00000131161 uc003jom.4 BC059398 NM_198449 CCDS3953 Q6PCB8 9438341 MGI:95321 RGD:621067 615669 HGNC:30465 "ENST00000303221.10|NM_198449.3" +HGNC:38661 EMBP1 embigin pseudogene 1 pseudogene pseudogene Approved 1p11.2 01p11.2 2010-07-06 2020-06-03 647121 ENSG00000231752 OTTHUMG00000185035 NR_003955 32482375 PGOHUM00000244885 HGNC:38661 +HGNC:28957 EMC1 ER membrane protein complex subunit 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 KIAA0090 KIAA0090 ER membrane protein complex subunits 1911 2005-04-05 2012-05-23 2012-05-23 2021-05-26 23065 ENSG00000127463 OTTHUMG00000002497 uc001bbo.5 NM_015047 "CCDS59191|CCDS190|CCDS59190" Q8N766 22119785 MGI:2443696 RGD:1310427 616846 470272 HGNC:28957 "ENST00000477853.6|NM_015047.3" HGNC:28957 +HGNC:54050 EMC1-AS1 EMC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Antisense RNAs 1987 2018-09-26 2018-09-26 101927895 ENSG00000230424 NR_135114 HGNC:54050 +HGNC:28963 EMC2 ER membrane protein complex subunit 2 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "KIAA0103|TTC35" tetratricopeptide repeat domain 35 "Tetratricopeptide repeat domain containing|ER membrane protein complex subunits" "769|1911" 2004-01-30 2012-05-23 2012-05-23 2016-10-05 9694 ENSG00000104412 OTTHUMG00000164873 uc003ymw.2 BC021667 NM_014673 CCDS6309 Q15006 "7788527|22119785" MGI:1913986 RGD:1310430 607722 HGNC:28963 "ENST00000220853.8|NM_014673.5" +HGNC:23999 EMC3 ER membrane protein complex subunit 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 TMEM111 transmembrane protein 111 ER membrane protein complex subunits 1911 2005-12-22 2012-05-23 2012-05-23 2014-11-19 55831 ENSG00000125037 OTTHUMG00000128652 uc003bun.4 AF157321 NM_018447 CCDS2594 Q9P0I2 "19797678|22119785" MGI:1913337 RGD:1311566 HGNC:23999 "ENST00000245046.7|NM_001394674.1" +HGNC:49223 EMC3-AS1 EMC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 Antisense RNAs 1987 2013-10-09 2013-10-09 442075 ENSG00000180385 OTTHUMG00000155324 NR_103821 HGNC:49223 +HGNC:28032 EMC4 ER membrane protein complex subunit 4 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ90746|MGC24415|PIG17" TMEM85 transmembrane protein 85 ER membrane protein complex subunits 1911 2006-02-15 2012-05-23 2012-05-23 2014-11-18 51234 ENSG00000128463 OTTHUMG00000129411 uc001zhq.5 BC016348 NM_016454 "CCDS66732|CCDS10035" Q5J8M3 "18586032|22119785" MGI:1915282 RGD:1310905 616245 HGNC:28032 "ENST00000267750.9|NM_016454.4" +HGNC:28430 EMC6 ER membrane protein complex subunit 6 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "MGC2963|RAB5IFL" TMEM93 transmembrane protein 93 ER membrane protein complex subunits 1911 2005-12-13 2012-05-23 2012-05-23 2018-02-16 83460 ENSG00000127774 OTTHUMG00000180187 uc002fwf.3 NM_031298 CCDS11033 Q9BV81 "22119785|23182941" MGI:1913298 RGD:1309231 HGNC:28430 "ENST00000248378.6|NM_031298.4" +HGNC:24301 EMC7 ER membrane protein complex subunit 7 protein-coding gene gene with protein product Approved 15q14 15q14 C11orf3 C15orf24 chromosome 15 open reading frame 24 ER membrane protein complex subunits 1911 2004-06-25 2012-05-30 2012-05-30 2014-11-19 56851 ENSG00000134153 OTTHUMG00000129367 uc001zhm.4 AJ245874 NM_020154 CCDS10032 Q9NPA0 "10873569|22119785" MGI:1920274 RGD:1305045 HGNC:24301 "ENST00000256545.9|NM_020154.3" +HGNC:7864 EMC8 ER membrane protein complex subunit 8 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FAM158B family with sequence similarity 158, member B "C16orf4|NOC4|C16orf2|COX4NB" "chromosome 16 open reading frame 4|neighbor of COX4|chromosome 16 open reading frame 2|COX4 neighbor" ER membrane protein complex subunits 1911 1999-06-02 2012-05-30 2012-05-30 2016-10-05 10328 ENSG00000131148 OTTHUMG00000137647 uc002fjd.4 AF005888 NM_006067 "CCDS45541|CCDS10954" O43402 "10337626|22119785" MGI:1343095 RGD:1311219 604886 HGNC:7864 "ENST00000253457.8|NM_006067.5" +HGNC:20273 EMC9 ER membrane protein complex subunit 9 protein-coding gene gene with protein product Approved 14q12 14q12 CGI-112 "C14orf122|FAM158A" "chromosome 14 open reading frame 122|family with sequence similarity 158, member A" ER membrane protein complex subunits 1911 2003-01-17 2012-05-30 2012-05-30 2014-11-19 51016 ENSG00000100908 OTTHUMG00000028796 uc001wmi.3 BF346999 NM_016049 "CCDS9613|CCDS86377" Q9Y3B6 22119785 MGI:1934682 RGD:1308113 HGNC:20273 "ENST00000216799.9|NM_016049.4" +HGNC:27609 EMC10 ER membrane protein complex subunit 10 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "INM02|HSS1|HSM1" "hematopoietic signal peptide-containing secreted 1|hematopoietic signal peptide-containing membrane domain-containing 1" C19orf63 chromosome 19 open reading frame 63 ER membrane protein complex subunits 1911 2007-07-17 2012-05-30 2012-05-30 2021-05-26 284361 ENSG00000161671 OTTHUMG00000183042 uc002psl.5 BC062607 NM_175063 "CCDS42594|CCDS12796" Q5UCC4 "12975309|22119785" MGI:1916933 RGD:1303214 614545 HGNC:27609 "ENST00000334976.11|NM_206538.4" HGNC:27609 +HGNC:16041 EMCN endomucin protein-coding gene gene with protein product Approved 4q24 04q24 MUC14 Mucins 648 2006-04-03 2016-10-05 51705 ENSG00000164035 OTTHUMG00000131051 uc003hvr.3 AF205940 NM_016242 "CCDS54782|CCDS3655" Q9ULC0 "11418125|11594763" MGI:1891716 RGD:1303218 608350 HGNC:16041 "ENST00000296420.9|NM_016242.4" +HGNC:3331 EMD emerin protein-coding gene gene with protein product Approved Xq28 Xq28 "STA|LEMD5" LEM domain containing 5 Emery-Dreifuss muscular dystrophy LEM domain containing 1087 2001-06-22 2008-07-29 2021-04-13 2010 ENSG00000102119 OTTHUMG00000033186 uc004fkl.4 X82434 NM_000117 CCDS14745 P50402 MGI:108117 RGD:2551 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/EMD|UMD Locus Specific Databases|http://www.umd.be/|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=EMD|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EMD|LRG_745|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_745.xml" 300384 121526 HGNC:3331 "ENST00000369842.9|NM_000117.3" HGNC:3331 +HGNC:24965 EME1 essential meiotic structure-specific endonuclease 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ31364|MMS4L|SLX2A" SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae) essential meiotic endonuclease 1 homolog 1 (S. pombe) 2004-01-27 2013-07-03 2015-02-24 146956 ENSG00000154920 OTTHUMG00000164974 uc002iqs.3 BC016470 NM_152463 "CCDS11565|CCDS54141" Q96AY2 12721304 MGI:3576783 RGD:1309067 610885 HGNC:24965 "ENST00000338165.9|NM_152463.4" +HGNC:27289 EME2 essential meiotic structure-specific endonuclease subunit 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ00151|SLX2B" SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae) essential meiotic endonuclease 1 homolog 2 (S. pombe) 2004-01-27 2013-07-03 2015-02-24 197342 ENSG00000197774 OTTHUMG00000176706 uc010brw.2 AK074080 NM_001010865 CCDS58404 A4GXA9 12721304 MGI:1919889 RGD:1304924 610886 HGNC:27289 "ENST00000568449.7|NM_001257370.2" +HGNC:16912 EMG1 EMG1 N1-specific pseudouridine methyltransferase protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "C2F|NEP1|Grcc2f" "EMG1 nucleolar protein homolog (S. cerevisiae)|EMG1, N1-specific pseudouridine methyltransferase" "SPOUT methyltransferase domain containing|SSU processome" "1294|1484" 2006-01-12 2019-01-25 2019-01-25 10436 ENSG00000126749 OTTHUMG00000168968 uc031ysa.2 U72514 NM_006331 CCDS73430 Q92979 "9074930|11935223|19463982" MGI:1315195 RGD:1307665 611531 201553 HGNC:16912 "ENST00000599672.6|NM_006331.8" HGNC:16912 +HGNC:18036 EMID1 EMI domain containing 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "EMU1|hEmu1|EMI5" "emilin and multimerin-domain containing protein 1|putative emu1" EMI domain containing 540 2004-03-02 2015-09-11 129080 ENSG00000186998 OTTHUMG00000151013 uc003aem.5 AJ416090 NM_133455 CCDS33630 Q96A84 12221002 MGI:2155091 RGD:1593795 608926 HGNC:18036 "ENST00000334018.11|NM_133455.4" +HGNC:19880 EMILIN1 elastin microfibril interfacer 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "DKFZp586M121|gp115|EMILIN" "EMI domain containing|C1q domain containing" "540|1641" 2003-07-16 2021-05-26 11117 ENSG00000138080 OTTHUMG00000097069 uc002rii.5 AF088916 NM_007046 CCDS1733 Q9Y6C2 10625608 MGI:1926189 RGD:1311209 130660 470274 HGNC:19880 "ENST00000380320.9|NM_007046.4" +HGNC:19881 EMILIN2 elastin microfibril interfacer 2 protein-coding gene gene with protein product Approved 18p11.32-p11.31 18p11.32-p11.31 "FLJ33200|FOAP-10" "EMI domain containing|C1q domain containing" "540|1641" 2003-07-16 2018-02-13 84034 ENSG00000132205 OTTHUMG00000128525 uc002kln.4 AF270513 NM_032048 CCDS11828 Q9BXX0 MGI:2389136 RGD:1305343 608928 HGNC:19881 "ENST00000254528.4|NM_032048.3" +HGNC:16123 EMILIN3 elastin microfibril interfacer 3 protein-coding gene gene with protein product Approved 20q12 20q12 dJ620E11.4 chromosome 20 open reading frame 130 "C20orf130|EMILIN5" elastin microfibril interfacer 5 EMI domain containing 540 2001-07-17 2004-03-02 2004-03-02 2018-11-15 90187 ENSG00000183798 OTTHUMG00000046304 uc002xjy.2 AL031667 NM_052846 CCDS13316 Q9NT22 12221002 MGI:2389142 RGD:1309607 608929 HGNC:16123 "ENST00000332312.4|NM_052846.2" +HGNC:3330 EML1 EMAP like 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "EMAP|HuEMAP|ELP79" EMAPL echinoderm microtubule associated protein like 1 "WD repeat domain containing|EMAP like" "362|1679" 1997-07-11 2002-02-15 2018-11-12 2018-11-12 2009 ENSG00000066629 OTTHUMG00000171529 uc001ygs.4 AK023861 NM_001008707 "CCDS32154|CCDS32155" O00423 "9226380|10521658" MGI:1915769 RGD:1306374 602033 434227 HGNC:3330 "ENST00000262233.11|NM_004434.3" HGNC:3330 +HGNC:18035 EML2 EMAP like 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "EMAP2|ELP70|EMAP-2" "echinoderm MT-associated protein (EMAP)-like protein 70|microtubule-associated protein like echinoderm EMAP" echinoderm microtubule associated protein like 2 "WD repeat domain containing|EMAP like|MicroRNA protein coding host genes" "362|1679|1691" 2002-02-15 2018-11-12 2019-08-20 24139 ENSG00000125746 OTTHUMG00000182127 uc002pcn.4 AF103939 NM_012155 "CCDS59399|CCDS12670|CCDS54280" O95834 "11694528|10521658" MGI:1919455 RGD:621066 617494 HGNC:18035 "ENST00000245925.8|NM_012155.4" +HGNC:48331 EML2-AS1 EML2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.32 19q13.32 C19orf83 chromosome 19 open reading frame 83 Antisense RNAs 1987 2013-11-06 2015-03-18 2015-03-18 2015-03-18 100287177 ENSG00000267757 OTTHUMG00000182128 NR_130728 EML2-AS1 HGNC:48331 +HGNC:26666 EML3 EMAP like 3 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FLJ35827|ELP95" echinoderm microtubule associated protein like 3 "WD repeat domain containing|EMAP like" "362|1679" 2005-05-17 2018-11-12 2018-11-12 256364 ENSG00000149499 OTTHUMG00000149817 uc001ntu.2 AK093146 NM_153265 "CCDS8023|CCDS76415" Q32P44 "15225882|14744259" MGI:2387612 RGD:7630023 618118 HGNC:26666 "ENST00000394773.7|NM_153265.3" +HGNC:1316 EML4 EMAP like 4 protein-coding gene gene with protein product Approved 2p21 02p21 "ROPP120|ELP120" C2orf2 echinoderm microtubule associated protein like 4 "WD repeat domain containing|EMAP like" "362|1679" 2000-01-31 2002-02-15 2018-11-12 2020-09-17 27436 ENSG00000143924 OTTHUMG00000128603 uc002rsi.3 AF177377 NM_019063 "CCDS1807|CCDS46266" Q9HC35 MGI:1926048 RGD:1304690 EML4 607442 358452 HGNC:1316 "ENST00000318522.10|NM_019063.5" +HGNC:40112 EML4-AS1 EML4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Antisense RNAs 1987 2019-07-25 2019-07-25 102723824 ENSG00000224875 OTTHUMG00000152629 NR_110584 HGNC:40112 +HGNC:18197 EML5 EMAP like 5 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "HuEMAP-2|EMAP-2|FAP16" echinoderm microtubule associated protein like 5 "WD repeat domain containing|EMAP like" "362|1679" 2002-12-17 2018-11-12 2020-01-28 161436 ENSG00000165521 OTTHUMG00000170811 uc059edd.1 AY357725 NM_001385116 CCDS45148 Q05BV3 MGI:2442513 RGD:1303275 618119 HGNC:18197 "ENST00000554922.6|NM_183387.3" +HGNC:35412 EML6 EMAP like 6 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 FLJ42562 echinoderm microtubule associated protein like 6 "WD repeat domain containing|EMAP like" "362|1679" 2008-12-05 2018-11-12 2018-11-15 400954 ENSG00000214595 OTTHUMG00000152035 uc002ryb.5 NM_001039753 CCDS46286 Q6ZMW3 MGI:2442895 RGD:1561672 HGNC:35412 "ENST00000356458.8|NM_001039753.4" +HGNC:41299 EML6-AS1 EML6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 Antisense RNAs 1987 2019-07-25 2019-07-25 105374667 ENSG00000231334 OTTHUMG00000152469 XR_940106 HGNC:41299 +HGNC:3333 EMP1 epithelial membrane protein 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "TMP|CL-20" 1997-12-05 2015-03-31 2012 ENSG00000134531 OTTHUMG00000168775 uc001rbr.4 U43916 NM_001423 CCDS8660 P54849 "8996089|9126480" MGI:107941 RGD:2552 602333 HGNC:3333 "ENST00000256951.10|NM_001423.3" +HGNC:3334 EMP2 epithelial membrane protein 2 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 XMP 1997-12-05 2016-10-05 2013 ENSG00000213853 OTTHUMG00000129752 uc002czx.4 U52100 NM_001424 CCDS10541 P54851 "8996089|10331954|16216233" MGI:1098726 RGD:1359629 602334 403061 HGNC:3334 "ENST00000359543.8|NM_001424.6" HGNC:3334 +HGNC:54651 EMP2P1 EMP2 pseudogene 1 pseudogene pseudogene Approved 2p23.3 02p23.3 2019-11-08 2020-01-21 391359 ENSG00000231655 NG_023036 +HGNC:3335 EMP3 epithelial membrane protein 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 YMP 1997-12-05 2016-10-05 2014 ENSG00000142227 OTTHUMG00000183196 uc002piv.3 U52101 NM_001425 CCDS12715 P54852 "8996089|10331954" MGI:1098729 RGD:621094 602335 HGNC:3335 "ENST00000270221.11|NM_001425.3" +HGNC:54408 EMSLR E2F1 mRNA stabilizing lncRNA non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 EMS E2F1 mRNA stabilizing factor Long non-coding RNAs with non-systematic symbols 1992 2019-07-12 2022-02-22 101927746 ENSG00000232445 NR_110115 "31262817|35169159" 618575 HGNC:54408 +HGNC:18071 EMSY EMSY transcriptional repressor, BRCA2 interacting protein-coding gene gene with protein product Approved 11q13.5 11q13.5 C11orf30 "chromosome 11 open reading frame 30|EMSY, BRCA2 interacting transcriptional repressor" EMSY complex 1243 2003-11-26 2015-10-26 2019-01-25 2019-01-25 56946 ENSG00000158636 OTTHUMG00000165282 uc001oxl.4 AF226047 NM_020193 "CCDS73351|CCDS8244|CCDS73349|CCDS73350" Q7Z589 "14651845|22315412" MGI:1924203 RGD:1310712 608574 HGNC:18071 +HGNC:55507 EMSY-DT EMSY divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.5 11q13.5 Divergent transcripts 1990 2021-03-17 2021-03-17 120883616 ENSG00000255135 +HGNC:3340 EMX1 empty spiracles homeobox 1 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 empty spiracles homolog 1 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 1994-02-08 2007-02-15 2015-08-25 2016 ENSG00000135638 OTTHUMG00000129778 uc002sin.1 X68879 NM_004097 CCDS1921 Q04741 7959790 MGI:95387 RGD:1564002 600034 8432 HGNC:3340 "ENST00000258106.11|NM_004097.3" +HGNC:3341 EMX2 empty spiracles homeobox 2 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 empty spiracles homolog 2 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 1994-02-08 2007-02-15 2021-05-26 2018 ENSG00000170370 OTTHUMG00000019123 uc001ldh.5 AF301598 NM_004098 "CCDS53583|CCDS7601" Q04743 7959790 MGI:95388 RGD:1564797 600035 8433 121529 HGNC:3341 "ENST00000553456.5|NM_004098.4" HGNC:3341 +HGNC:18511 EMX2OS EMX2 opposite strand/antisense RNA non-coding RNA RNA, long non-coding Approved 10q26.11 10q26.11 "NCRNA00045|EMX2-AS1" non-protein coding RNA 45 "empty spiracles homeobox 2 opposite strand|EMX2 opposite strand (non-protein coding)|EMX2 opposite strand/antisense RNA (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-02-04 2011-11-14 2012-08-15 2014-10-22 196047 ENSG00000229847 OTTHUMG00000019125 uc001ldg.4 AY117034 NR_002791 12573261 MGI:3052329 607637 Emx2os EMX2OS HGNC:18511 +HGNC:3342 EN1 engrailed homeobox 1 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 NKL subclass homeoboxes and pseudogenes 519 1989-05-08 2007-02-15 2015-08-25 2019 ENSG00000163064 OTTHUMG00000131401 uc002tlm.4 L12699 NM_001426 CCDS2123 Q05925 8094370 MGI:95389 RGD:1595088 131290 8434 470276 HGNC:3342 "ENST00000295206.7|NM_001426.4" +HGNC:3343 EN2 engrailed homeobox 2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 NKL subclass homeoboxes and pseudogenes 519 1988-08-31 2007-02-15 2016-10-05 2020 ENSG00000164778 OTTHUMG00000151354 uc003wmb.3 NM_001427 CCDS5940 P19622 MGI:95390 RGD:1561842 131310 8435 121531 HGNC:3343 "ENST00000297375.4|NM_001427.4" HGNC:3343 +HGNC:55659 EN2-DT EN2 divergent transcript non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Divergent transcripts 1990 2021-06-30 2021-06-30 121832807 ENSG00000236544 +HGNC:18271 ENAH ENAH actin regulator protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "FLJ10773|NDPP1|MENA" mammalian enabled enabled homolog (Drosophila) ENAH/VASPs 946 2002-08-06 2019-01-21 2019-01-21 55740 ENSG00000154380 OTTHUMG00000037742 uc001hpc.2 AK001635 NM_018212 "CCDS31040|CCDS31041" Q8N8S7 "1420303|16494957" MGI:108360 RGD:1307666 609061 HGNC:18271 "ENST00000366843.7|NM_018212.6" +HGNC:3344 ENAM enamelin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) 1999-05-17 2021-05-26 10117 ENSG00000132464 OTTHUMG00000129914 uc011caw.2 AF125373 NM_031889 CCDS3544 Q9NRM1 11978766 MGI:1333772 RGD:1306796 LRG_1348|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1348.xml 606585 121533 HGNC:3344 "ENST00000396073.4|NM_031889.3" HGNC:3344 +HGNC:3345 ENC1 ectodermal-neural cortex 1 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "PIG10|ENC-1|TP53I10|KLHL37" kelch-like family member 37 NRPB "ectodermal-neural cortex 1 (with BTB-like domain)|ectodermal-neural cortex 1 (with BTB domain)" "Kelch like|BTB domain containing" "617|861" 1998-09-30 2016-01-21 2016-10-05 8507 ENSG00000171617 OTTHUMG00000102059 uc031skd.1 AF059611 NM_003633 "CCDS58958|CCDS4021" O14682 "9305847|9566959" MGI:109610 RGD:1303152 605173 HGNC:3345 "ENST00000302351.9|NM_003633.4" +HGNC:29129 ENDOD1 endonuclease domain containing 1 protein-coding gene gene with protein product Approved 11q21 11q21 KIAA0830 2006-02-03 2014-11-19 23052 ENSG00000149218 OTTHUMG00000167835 uc001pfh.4 BC026191 NM_015036 CCDS41699 O94919 10048485 MGI:1919196 RGD:1310444 619568 HGNC:29129 "ENST00000278505.5|NM_015036.3" +HGNC:3346 ENDOG endonuclease G protein-coding gene gene with protein product Approved 9q34.11 09q34.11 1994-09-29 2016-10-05 2021 ENSG00000167136 OTTHUMG00000020763 uc004bwc.4 X79444 NM_004435 CCDS6912 Q14249 7789991 MGI:1261433 RGD:1310763 600440 HGNC:3346 "ENST00000372642.5|NM_004435.2" +HGNC:14369 ENDOU endonuclease, poly(U) specific protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "PP11|P11|PRSS26" endonuclease, polyU-specific "Serine proteases|Endoribonucleases" "738|1687" 2010-02-05 2015-11-18 2016-10-05 8909 ENSG00000111405 OTTHUMG00000169670 uc001rpu.3 M32402 NM_006025.2 "CCDS53785|CCDS8754|CCDS53784" P21128 "2350438|1710108|15755742|18936097" MGI:97746 RGD:1593011 606720 HGNC:14369 "ENST00000422538.8|NM_001172439.2" +HGNC:26640 ENDOV endonuclease V protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ35220 MicroRNA protein coding host genes 1691 2011-05-05 2011-05-05 284131 ENSG00000173818 OTTHUMG00000164638 uc021ueo.2 NM_173627 "CCDS54172|CCDS54173|CCDS54174" Q8N8Q3 12853604 MGI:2444688 RGD:1562414 619821 HGNC:26640 "ENST00000518137.6|NM_173627.5" +HGNC:3349 ENG endoglin protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "END|HHT1|CD105" "ORW1|ORW" Osler-Rendu-Weber syndrome 1 CD molecules 471 1993-03-03 2008-09-04 2021-04-13 2022 ENSG00000106991 OTTHUMG00000020723 uc004bsk.6 AF035753 NM_000118 "CCDS75906|CCDS48029|CCDS6880" P17813 "8404038|10548503" MGI:95392 RGD:1593188 "Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database|http://www.hhtmutation.org/|LRG_589|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_589.xml" 131195 121536 objectId:2895 CD105 HGNC:3349 "ENST00000373203.9|NM_001114753.3" HGNC:3349 +HGNC:24622 ENGASE endo-beta-N-acetylglucosaminidase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ21865 "Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase|Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase" Glycoside hydrolases 1650 2009-03-03 2014-11-19 64772 ENSG00000167280 OTTHUMG00000167714 uc002jwv.5 AF512564 NM_022759 CCDS42394 Q8NFI3 "12114544|18586680" MGI:2443788 RGD:1310868 611898 3.2.1.96 HGNC:24622 "ENST00000579016.6|NM_001042573.3" +HGNC:24838 ENHO energy homeostasis associated protein-coding gene gene with protein product Approved 9p13.3 09p13.3 UNQ470 adropin C9orf165 chromosome 9 open reading frame 165 2006-05-15 2008-12-10 2008-12-10 2020-03-10 375704 ENSG00000168913 OTTHUMG00000159589 uc003zun.2 BC022101 NM_198573 CCDS43795 Q6UWT2 "12975309|19041763" MGI:1916888 RGD:6487582 618556 ligandId:9573 HGNC:24838 "ENST00000399775.3|NM_198573.3" +HGNC:25246 ENKD1 enkurin domain containing 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "DKFZP434A1319|FBB11" C16orf48 chromosome 16 open reading frame 48 2005-02-11 2012-10-09 2012-10-09 2020-01-28 84080 ENSG00000124074 OTTHUMG00000137550 uc002etw.2 BC008284 NM_032140 CCDS10844 Q9H0I2 "11230166|29257953" MGI:2142593 RGD:1307357 HGNC:25246 "ENST00000243878.9|NM_032140.3" +HGNC:28388 ENKUR enkurin, TRPC channel interacting protein protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "MGC26778|enkurin|CFAP106" C10orf63 chromosome 10 open reading frame 63 Cilia and flagella associated 1491 2004-01-22 2009-04-28 2009-04-28 2016-10-05 219670 ENSG00000151023 OTTHUMG00000017827 uc001isg.2 AK095021 NM_145010 "CCDS73075|CCDS7146" Q8TC29 "17217053|15385169" MGI:1918483 RGD:1309839 611025 HGNC:28388 "ENST00000331161.9|NM_145010.4" +HGNC:3350 ENO1 enolase 1 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "PPH|MBP-1" alpha-enolase "ENO1L1|MPB1" enolase 1, (alpha) "Enolases|MicroRNA protein coding host genes" "1603|1691" 1989-04-21 2016-04-05 2021-04-13 2023 ENSG00000074800 OTTHUMG00000001773 uc001apj.3 BC022545 NM_001428 "CCDS97|CCDS85924" P06733 "9653645|9691177" MGI:95393 RGD:2553 LRG_1165|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1165.xml 172430 470278 4.2.1.11 HGNC:3350 "ENST00000234590.10|NM_001428.5" +HGNC:40214 ENO1-AS1 ENO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 ENO1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100505975 ENSG00000230679 OTTHUMG00000001779 uc021oft.2 NR_038351 ENO1-AS1 HGNC:40214 +HGNC:41331 ENO1-IT1 ENO1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 ENO1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2020-01-21 106480431 ENSG00000236269 OTTHUMG00000001778 uc057bzw.1 ENO1-IT1 +HGNC:3352 ENO1P1 enolase 1 pseudogene 1 pseudogene pseudogene Approved 1q43 01q43 ENO1P "enolase 1, (alpha) pseudogene|enolase 1, (alpha) pseudogene 1" 1992-11-04 2010-03-11 2016-04-28 2016-04-28 2025 ENSG00000244457 OTTHUMG00000039951 X15277 NG_001115 2132962 HGNC:3352 +HGNC:37943 ENO1P2 enolase 1 pseudogene 2 pseudogene pseudogene Approved 15q26.1 15q26.1 enolase 1, (alpha) pseudogene 2 2010-03-11 2016-04-28 2016-04-28 100419098 ENSG00000258739 OTTHUMG00000171740 NG_022137 PGOHUM00000247276 HGNC:37943 +HGNC:37944 ENO1P3 enolase 1 pseudogene 3 pseudogene pseudogene Approved 3q21.2 03q21.2 enolase 1, (alpha) pseudogene 3 2010-03-11 2016-04-28 2016-04-28 100419069 ENSG00000243986 OTTHUMG00000159521 NG_022217 PGOHUM00000237744 HGNC:37944 +HGNC:37945 ENO1P4 enolase 1 pseudogene 4 pseudogene pseudogene Approved 2q33.1 02q33.1 enolase 1, (alpha) pseudogene 4 2010-03-11 2016-04-28 2016-04-28 100885799 ENSG00000241790 OTTHUMG00000154527 NG_032049 HGNC:37945 +HGNC:3353 ENO2 enolase 2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 NSE "gamma-enolase|neuronal enriched enolase|neuron specific enolase" enolase 2 (gamma, neuronal) Enolases 1603 2001-06-22 2016-04-28 2022-02-11 2026 ENSG00000111674 OTTHUMG00000168967 uc009zfi.2 M22349 NM_001975 CCDS8570 P09104 MGI:95394 RGD:2554 131360 4.2.1.11 HGNC:3353 "ENST00000229277.6|NM_001975.3" +HGNC:3354 ENO3 enolase 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "beta-enolase|muscle enriched enolase" "enolase 3, (beta, muscle)|enolase 3 (beta, muscle)" Enolases 1603 1990-03-21 2016-04-28 2021-05-26 2027 ENSG00000108515 OTTHUMG00000099394 uc002gac.5 X16504 NM_001193503 "CCDS54070|CCDS11062" P13929 MGI:95395 RGD:2555 131370 121551 4.2.1.11 HGNC:3354 "ENST00000519602.6|NM_053013.4" HGNC:3354 +HGNC:31670 ENO4 enolase 4 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 AC023283.3 C10orf134 "chromosome 10 open reading frame 134|enolase family member 4" Enolases 1603 2004-05-27 2009-12-15 2018-02-16 2018-02-16 387712 ENSG00000188316 OTTHUMG00000019113 uc021pzj.1 NM_001242699 CCDS73206 A6NNW6 23446454 MGI:2441717 RGD:1308333 131375 4.2.1.11 HGNC:31670 "ENST00000341276.11|NM_001242699.2" +HGNC:24599 ENOPH1 enolase-phosphatase 1 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "MASA|E1|mtnC" "Enolase-phosphatase E1|acireductone synthase" HAD Asp-based non-protein phosphatases 1045 2007-01-26 2016-10-05 58478 ENSG00000145293 OTTHUMG00000130295 uc003hmv.4 NM_021204 "CCDS75154|CCDS3594" Q9UHY7 15843022 MGI:1915120 RGD:1309016 3.1.3.77 HGNC:24599 "ENST00000273920.8|NM_021204.5" +HGNC:30365 ENOSF1 enolase superfamily member 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "HSRTSBETA|rTS|TYMSAS|FUCD" L-fuconate dehydratase 2005-01-26 2018-02-16 55556 ENSG00000132199 OTTHUMG00000131470 uc002kku.5 X67098 NM_017512 "CCDS11822|CCDS45821" Q7L5Y1 "14508106|24697329" 607427 4.2.1.68 HGNC:30365 "ENST00000647584.2|NM_017512.7" +HGNC:25474 ENOX1 ecto-NOX disulfide-thiol exchanger 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "FLJ10094|PIG38|CNOX|cCNOX" ecto-NADPH oxidase disulfide-thiol exchanger 1 RNA binding motif containing 725 2007-03-23 2016-09-28 55068 ENSG00000120658 OTTHUMG00000016818 uc001uzc.5 EF432052 NM_017993 CCDS9389 Q8TC92 11360993 MGI:2444896 RGD:1306118 610914 HGNC:25474 "ENST00000690772.1|NM_001347969.2" +HGNC:42396 ENOX1-AS1 ENOX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 ENOX1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874129 ENSG00000233821 OTTHUMG00000016819 uc058wrp.1 ENOX1-AS1 +HGNC:42397 ENOX1-AS2 ENOX1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 ENOX1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874130 ENSG00000238189 OTTHUMG00000016817 uc058wro.1 NR_120399 ENOX1-AS2 HGNC:42397 +HGNC:2259 ENOX2 ecto-NOX disulfide-thiol exchanger 2 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "APK1|tNOX" "tumor-associated NADH oxidase|ecto-NADPH oxidase disulfide-thiol exchanger 2" COVA1 cytosolic ovarian carcinoma antigen 1 RNA binding motif containing 725 1999-11-22 2007-03-23 2007-03-23 2020-04-02 10495 ENSG00000165675 OTTHUMG00000022401 uc004evx.5 AF207881 NM_182314 "CCDS14626|CCDS14627" Q16206 "8150545|11888291" MGI:2384799 RGD:1563643 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ENOX2 300282 HGNC:2259 "ENST00000394363.6|NM_006375.4" +HGNC:56096 ENOX2-AS1 ENOX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.1 Xq26.1 Antisense RNAs 1987 2022-01-05 2022-01-05 105373338 NR_135655 +HGNC:3355 ENPEP glutamyl aminopeptidase protein-coding gene gene with protein product Approved 4q25 04q25 "gp160|CD249" glutamyl aminopeptidase (aminopeptidase A) "Aminopeptidases|CD molecules|M1 metallopeptidases" "104|471|1437" 1993-04-15 2016-01-06 2016-01-06 2028 ENSG00000138792 OTTHUMG00000132546 uc003iab.5 L12468 NM_001379611 CCDS3691 Q07075 9268642 MGI:106645 RGD:621228 138297 M01.003 objectId:1568 CD249 3.4.11.7 HGNC:3355 "ENST00000265162.10|NM_001977.4" +HGNC:3356 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "PC-1|PCA1" "NPPS|M6S1|PDNP1" Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 1992-12-08 2021-05-26 5167 ENSG00000197594 OTTHUMG00000015572 uc011ecf.2 M57736 NM_006208 CCDS5150 P22413 1315502 MGI:97370 RGD:628825 LRG_1288|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1288.xml 173335 121553 "3.1.4.1|3.6.1.9" HGNC:3356 "ENST00000647893.1|NM_006208.3" HGNC:3356 +HGNC:3357 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "ATX|PD-IALPHA" autotaxin PDNP2 Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 1995-08-10 2008-08-01 2015-09-11 5168 ENSG00000136960 OTTHUMG00000164995 uc003yos.3 D45421 NM_001040092 "CCDS47914|CCDS83317|CCDS34936|CCDS6329" Q13822 8586446 MGI:1321390 RGD:69298 601060 470280 objectId:2901 "3.1.4.1|3.6.1.9" HGNC:3357 "ENST00000075322.11|NM_001040092.3" +HGNC:3358 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "PD-IBETA|gp130RB13-6|B10|CD203c" PDNP3 "CD molecules|Ectonucleotide pyrophosphatase/phosphodiesterase family" "471|1821" 1995-08-10 2016-10-05 5169 ENSG00000154269 OTTHUMG00000016292 uc003qcu.5 AF005632 NM_005021 CCDS5148 O14638 9344668 MGI:2143702 RGD:708511 602182 CD203c "3.1.4.1|3.6.1.9" HGNC:3358 "ENST00000357639.8|NM_005021.5" +HGNC:3359 ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "NPP4|KIAA0879|AP3Aase" "AP3A hydrolase|Bis(5'-adenosyl)-triphosphatase" ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 2000-08-24 2017-09-14 2017-09-14 22875 ENSG00000001561 OTTHUMG00000014779 uc003oxy.4 AB020686 NM_014936 CCDS34468 Q9Y6X5 "11027689|22995898" MGI:2682634 RGD:1308689 617000 HGNC:3359 "ENST00000321037.5|NM_014936.5" +HGNC:13717 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 2000-10-18 2019-02-27 2019-02-27 59084 ENSG00000112796 OTTHUMG00000014781 uc003oya.2 AL035701 NM_001290072 CCDS4915 Q9UJA9 "11027689|28898552" MGI:1933830 RGD:1359199 617001 HGNC:13717 "ENST00000371383.7|NM_001290072.2" +HGNC:23409 ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 MGC33971 Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 2003-11-25 2014-11-19 133121 ENSG00000164303 OTTHUMG00000160617 uc003iwc.3 AK057370 NM_153343 CCDS3834 Q6UWR7 MGI:2445171 RGD:1311645 616983 HGNC:23409 "ENST00000296741.7|NM_153343.4" +HGNC:23764 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "alk-SMase|NPP7" alkaline sphingomyelinase Ectonucleotide pyrophosphatase/phosphodiesterase family 1821 2004-04-29 2014-11-18 339221 ENSG00000182156 OTTHUMG00000177462 uc002jxa.5 AY230663 NM_178543 CCDS11763 Q6UWV6 12885774 MGI:3027917 RGD:1359324 616997 HGNC:23764 "ENST00000328313.10|NM_178543.5" +HGNC:48699 ENPP7P1 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 1 pseudogene pseudogene Approved 8p23.1 08p23.1 2013-06-06 2014-11-18 100421823 ENSG00000249188 OTTHUMG00000160501 NG_026083 PGOHUM00000303442 HGNC:48699 +HGNC:48685 ENPP7P2 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 2 pseudogene pseudogene Approved 3p12.3 03p12.3 2013-06-06 2014-11-18 100421813 ENSG00000239959 OTTHUMG00000158849 NG_025593 PGOHUM00000299067 HGNC:48685 +HGNC:48686 ENPP7P3 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 3 pseudogene pseudogene Approved 3q22.1 03q22.1 2013-06-06 2014-11-18 106481658 ENSG00000248618 OTTHUMG00000159714 NG_044896 PGOHUM00000299178 HGNC:48686 +HGNC:48687 ENPP7P4 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 4 pseudogene pseudogene Approved 3q21.2 03q21.2 2013-06-06 2014-11-18 100421816 ENSG00000241278 OTTHUMG00000159567 NG_025738 PGOHUM00000299570 HGNC:48687 +HGNC:48688 ENPP7P5 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 5 pseudogene pseudogene Approved 12p13.31 12p13.31 2013-06-06 2014-11-18 106480674 ENSG00000256589 OTTHUMG00000168662 NG_043185 PGOHUM00000291210 HGNC:48688 +HGNC:48698 ENPP7P6 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 6 pseudogene pseudogene Approved 8p23.1 08p23.1 2013-06-06 2013-06-06 2014-11-18 107133511 ENSG00000255549 OTTHUMG00000165463 NG_046666 PGOHUM00000303102 HGNC:48698 +HGNC:48690 ENPP7P7 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 7 pseudogene pseudogene Approved 11q13.2 11q13.2 2013-06-06 2014-11-18 100421859 ENSG00000273819 OTTHUMG00000187771 NG_024380 PGOHUM00000290572 HGNC:48690 +HGNC:48691 ENPP7P8 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 8 pseudogene pseudogene Approved 11q13.4 11q13.4 2013-06-06 2014-11-18 100421860 ENSG00000255319 OTTHUMG00000167461 NG_024528 PGOHUM00000291020 HGNC:48691 +HGNC:48692 ENPP7P9 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 9 pseudogene pseudogene Approved 4p16.3 04p16.3 2013-06-06 2014-11-18 100421803 ENSG00000250476 OTTHUMG00000160181 NG_025078 PGOHUM00000299741 HGNC:48692 +HGNC:48693 ENPP7P10 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 10 pseudogene pseudogene Approved 4p16.1 04p16.1 2013-06-06 2014-11-18 100421805 ENSG00000249767 OTTHUMG00000160099 NG_025193 PGOHUM00000300126 HGNC:48693 +HGNC:48694 ENPP7P11 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 11 pseudogene pseudogene Approved 4p16.1 04p16.1 2013-06-06 2014-11-18 100421806 ENSG00000250942 OTTHUMG00000160244 NG_025195 PGOHUM00000300145 HGNC:48694 +HGNC:48697 ENPP7P12 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 12 pseudogene pseudogene Approved 8p23.1 08p23.1 2013-06-06 2014-11-18 106480230 ENSG00000254527 OTTHUMG00000165299 NG_043733 PGOHUM00000303094 HGNC:48697 +HGNC:48696 ENPP7P13 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 13 pseudogene pseudogene Approved 16p11.2 16p11.2 DUNQU1 2013-06-06 2014-11-18 104644205 ENSG00000261580 OTTHUMG00000176353 JF934746 NR_130771 24141781 PGOHUM00000293817 HGNC:48696 +HGNC:51387 ENPP7P14 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 14 pseudogene pseudogene Approved 16p13.3 16p13.3 2014-11-18 2017-01-11 106481720 ENSG00000273963 OTTHUMG00000187875 NG_043377 PGOHUM00000293410 HGNC:51387 +HGNC:55616 ENPP7P15 ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 15 pseudogene pseudogene Approved 11p15.4 11p15.4 2021-06-18 2021-06-18 121832813 ENSG00000284605 PGOHUM00000290342 +HGNC:3360 ENSA endosulfine alpha protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "MGC4319|MGC8394|MGC78563|ARPP-19e" 1998-08-21 2015-09-11 2029 ENSG00000143420 OTTHUMG00000035004 uc001eve.4 X99906 NM_207042 "CCDS964|CCDS965|CCDS960|CCDS961|CCDS959|CCDS958|CCDS962|CCDS963" O43768 9653196 MGI:1891189 RGD:62007 603061 HGNC:3360 "ENST00000369014.10|NM_004436.4" +HGNC:16588 ENSAP1 endosulfine alpha pseudogene 1 pseudogene pseudogene Approved 20p12.1 20p12.1 dJ822J19.1 ENSAP endosulfine alpha pseudogene 2001-09-17 2009-11-25 2009-11-25 2014-11-19 170511 ENSG00000224274 OTTHUMG00000031923 AL050324 NG_054905 PGOHUM00000247449 HGNC:16588 +HGNC:20011 ENSAP2 endosulfine alpha pseudogene 2 pseudogene pseudogene Approved 14q31.1 14q31.1 2003-01-13 2014-11-19 319114 ENSG00000259032 OTTHUMG00000171388 NG_002495 PGOHUM00000247876 HGNC:20011 +HGNC:37946 ENSAP3 endosulfine alpha pseudogene 3 pseudogene pseudogene Approved 2q35 02q35 2010-03-12 2014-11-19 100128203 ENSG00000177261 OTTHUMG00000154772 NG_023446 PGOHUM00000241105 HGNC:37946 +HGNC:26352 ENTHD1 ENTH domain containing 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 FLJ25421 2006-06-26 2015-08-25 150350 ENSG00000176177 OTTHUMG00000151098 uc003ayg.3 AK093154 NM_152512 CCDS13998 Q8IYW4 12477932 MGI:2686088 RGD:1587874 HGNC:26352 "ENST00000325157.7|NM_152512.4" +HGNC:3363 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "NTPDase-1|ATPDase|SPG64" CD39 "CD molecules|Ectonucleoside triphosphate diphosphohydrolase family" "471|1822" 1994-12-09 2014-11-19 953 ENSG00000138185 OTTHUMG00000018818 uc001klh.5 S73813 NM_001776 "CCDS53556|CCDS53557|CCDS7444|CCDS41554" P49961 "9226376|24482476" MGI:102805 RGD:69265 601752 403364 objectId:2888 CD39 HGNC:3363 "ENST00000371205.5|NM_001776.6" HGNC:3363 +HGNC:45203 ENTPD1-AS1 ENTPD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.1 10q24.1 Antisense RNAs 1987 2013-03-07 2013-03-07 728558 ENSG00000226688 OTTHUMG00000018822 uc001klg.3 NR_038444 ENTPD1-AS1 HGNC:45203 +HGNC:3364 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 NTPDase-2 "CD39-like-1|ecto-ATPase" CD39L1 Ectonucleoside triphosphate diphosphohydrolase family 1822 1998-02-09 2016-10-05 954 ENSG00000054179 OTTHUMG00000020953 uc004ckw.3 U91510 NM_203468 "CCDS7026|CCDS7025" Q9Y5L3 9271669 MGI:1096863 RGD:69266 602012 objectId:2889 HGNC:3364 "ENST00000355097.7|NM_203468.3" +HGNC:3365 ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "NTPDase-3|HB6" CD39L3 Ectonucleoside triphosphate diphosphohydrolase family 1822 1998-03-20 2016-10-05 956 ENSG00000168032 OTTHUMG00000131390 uc003ckd.5 AF039917 NM_001248 "CCDS2691|CCDS74919" O75355 9676430 MGI:1321386 RGD:631326 603161 HGNC:3365 "ENST00000301825.8|NM_001248.4" +HGNC:26710 ENTPD3-AS1 ENTPD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 FLJ36665 ENTPD3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 285266 ENSG00000223797 OTTHUMG00000156074 uc003cke.5 NR_040100 12477932 ENTPD3-AS1 HGNC:26710 +HGNC:14573 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "LALP70|LAP70|KIAA0392|NTPDase-4|UDPase" LYSAL1 lysosomal apyrase-like 1 Ectonucleoside triphosphate diphosphohydrolase family 1822 2001-05-08 2004-09-22 2004-09-22 2015-09-11 9583 ENSG00000197217 OTTHUMG00000097852 uc003xdl.4 AJ131358 NM_004901 "CCDS47827|CCDS6041" Q9Y227 "10393803|9205841" "MGI:1914714|MGI:5435040" RGD:1309511 607577 HGNC:14573 "ENST00000358689.9|NM_004901.5" +HGNC:55536 ENTPD4-DT ENTPD4 divergent transcript non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 Divergent transcripts 1990 2021-03-24 2021-03-24 121009645 ENSG00000253390 +HGNC:3367 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) protein-coding gene gene with protein product Approved 14q24.3 14q24.3 NTPDase-5 "CD39L4|PCPH" "proto-oncogene CPH|ectonucleoside triphosphate diphosphohydrolase 5" Ectonucleoside triphosphate diphosphohydrolase family 1822 1998-03-23 2019-02-27 2019-02-27 957 ENSG00000187097 OTTHUMG00000171201 uc010tuo.3 AF039918 NM_001249 "CCDS81825|CCDS9825" O75356 "9271669|9676430|23921441" MGI:1321385 RGD:735219 603162 HGNC:3367 "ENST00000334696.11|NM_001249.5" +HGNC:3368 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "NTPDase-6|dJ738P15.3" "CD39L2|IL6ST2" "interleukin 6 signal transducer-2|ectonucleoside triphosphate diphosphohydrolase 6 (putative)" Ectonucleoside triphosphate diphosphohydrolase family 1822 1998-03-20 2019-02-28 2019-02-28 955 ENSG00000197586 OTTHUMG00000032116 uc002wuj.3 AF039916 NM_001114089 "CCDS13170|CCDS46586|CCDS82603|CCDS82604" O75354 "9676430|14529283" MGI:1202295 RGD:619725 603160 3.6.1.6 HGNC:3368 "ENST00000376652.9|NM_001247.5" +HGNC:19745 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "LALP1|FLJ30978" Ectonucleoside triphosphate diphosphohydrolase family 1822 2004-02-17 2016-10-05 57089 ENSG00000198018 OTTHUMG00000018888 uc001kqa.5 AF269255 NM_020354 CCDS7480 Q9NQZ7 11278936 MGI:2135885 RGD:1310638 616753 HGNC:19745 "ENST00000370489.5|NM_020354.5" +HGNC:24860 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "UNQ2492|NTPDase-8" GLSR2492 Ectonucleoside triphosphate diphosphohydrolase family 1822 2005-04-26 2014-11-19 377841 ENSG00000188833 OTTHUMG00000131831 uc004cmw.3 AY359088 NM_198585 "CCDS43913|CCDS7043" Q5MY95 12975309 MGI:1919340 RGD:1561793 616748 HGNC:24860 "ENST00000371506.7|NM_001033113.2" +HGNC:10667 ENTR1 endosome associated trafficking regulator 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 NY-CO-3 SDCCAG3 serologically defined colon cancer antigen 3 1999-08-25 2018-04-30 2018-04-30 2018-04-30 10807 ENSG00000165689 OTTHUMG00000020928 uc004chj.4 AF039688 NM_006643 "CCDS6999|CCDS43903|CCDS43904" Q96C92 9610721 MGI:1915362 RGD:1305930 618289 HGNC:10667 "ENST00000357365.8|NM_001039707.2" +HGNC:29375 ENTR1P1 ENTR1 pseudogene 1 pseudogene pseudogene Approved 18q21.32 18q21.32 "SDCCAG3L|SDCCAG3P1" "serologically defined colon cancer antigen 3-like|serologically defined colon cancer antigen 3 pseudogene 1" 2005-01-18 2019-03-28 2019-03-28 2019-03-28 388478 ENSG00000256704 OTTHUMG00000179952 NG_005510 PGOHUM00000294671 HGNC:29375 +HGNC:39164 ENTR1P2 ENTR1 pseudogene 2 pseudogene pseudogene Approved 1q25.1 01q25.1 SDCCAG3P2 serologically defined colon cancer antigen 3 pseudogene 2 2010-10-27 2019-03-28 2019-03-28 2019-03-28 646891 ENSG00000181101 OTTHUMG00000034951 NG_022743 PGOHUM00000244346 HGNC:39164 +HGNC:24449 ENY2 ENY2 transcription and export complex 2 subunit protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "DC6|FLJ20480|Sus1" "enhancer of yellow 2 homolog (Drosophila)|ENY2, transcription and export complex 2 subunit" "SAGA complex|Transcription and export complex 2" "1059|1276" 2005-04-29 2019-01-25 2019-01-25 56943 ENSG00000120533 OTTHUMG00000164933 uc003ync.4 NM_020189 "CCDS43762|CCDS55270" Q9NPA8 11438676 MGI:1919286 RGD:1596439 619015 HGNC:24449 "ENST00000521688.6|NM_020189.6" +HGNC:28526 EOGT EGF domain specific O-linked N-acetylglucosamine transferase protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "AER61|FLJ33770" AER61 glycosyltransferase C3orf64 "chromosome 3 open reading frame 64|EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase" O-linked N-acetylglucosaminyltransferases 446 2006-03-08 2012-05-21 2016-04-04 2021-05-26 285203 ENSG00000163378 OTTHUMG00000156279 uc003dnl.5 AK091089 NM_173654 "CCDS63684|CCDS2908" Q5NDL2 22310717 MGI:2141669 RGD:1359357 614789 331958 2.4.1.255 HGNC:28526 "ENST00000383701.8|NM_001278689.2" HGNC:28526 +HGNC:55605 EOGT-DT EOGT divergent transcript non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 Divergent transcripts 1990 2021-06-07 2021-06-07 121676928 ENSG00000244513 +HGNC:28089 EOLA1 endothelium and lymphocyte associated ASCH domain 1 protein-coding gene gene with protein product Approved Xq28 Xq28 endothelial-overexpressed lipopolysaccharide-associated factor 1 "CXorf40|CXorf40A" "chromosome X open reading frame 40|chromosome X open reading frame 40A" 2004-09-06 2019-11-01 2019-11-01 2019-11-01 91966 ENSG00000197620 OTTHUMG00000022622 uc065bnd.1 AF011889 NM_178124 "CCDS55522|CCDS14687" Q8TE69 "31007603|24916366|31569543" MGI:1915868 300954 HGNC:28089 "ENST00000393985.8|NM_001171907.3" +HGNC:44265 EOLA1-DT EOLA1 divergent transcript non-coding RNA RNA, long non-coding Approved Xq28 Xq28 gene W LINC00893 long intergenic non-protein coding RNA 893 Divergent transcripts 1990 2013-05-17 2021-06-24 2021-06-24 2021-06-24 100131434 ENSG00000241769 OTTHUMG00000022617 "AK124040|AF050144" NR_027455 10737977 LINC00893 HGNC:44265 +HGNC:17402 EOLA2 endothelium and lymphocyte associated ASCH domain 2 protein-coding gene gene with protein product Approved Xq28 Xq28 CXorf40B chromosome X open reading frame 40B 2005-09-13 2019-11-01 2019-11-01 2019-11-01 541578 ENSG00000197021 OTTHUMG00000034327 uc004fdy.4 BC009523 NM_001013845 CCDS35426 Q96DE9 MGI:1915868 RGD:1562747 HGNC:17402 "ENST00000370406.8|NM_001013845.2" +HGNC:48579 EOLA2-DT EOLA2 divergent transcript non-coding RNA RNA, long non-coding Approved Xq28 Xq28 LINC00894 long intergenic non-protein coding RNA 894 Divergent transcripts 1990 2013-05-17 2021-06-30 2021-06-30 2021-06-30 100272228 ENSG00000235703 OTTHUMG00000022638 NR_027456 29738694 LINC00894 HGNC:48579 +HGNC:3372 EOMES eomesodermin protein-coding gene gene with protein product Approved 3p24.1 03p24.1 TBR2 T-box brain2 eomesodermin (Xenopus laevis) homolog T-box transcription factors 766 1998-09-15 2010-06-24 2021-05-26 8320 ENSG00000163508 OTTHUMG00000130570 uc003cdx.5 BC025363 NM_005442 "CCDS63584|CCDS2646|CCDS63585" O95936 "9888994|9434949" MGI:1201683 RGD:1359706 604615 181116 HGNC:3372 "ENST00000449599.4|NM_001278182.2" HGNC:3372 +HGNC:3373 EP300 E1A binding protein p300 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "p300|KAT3B" histone acetyltransferase p300 "Zinc fingers ZZ-type|Lysine acetyltransferases|Bromodomain containing" "91|486|1232" 1998-07-31 2021-04-13 2033 ENSG00000100393 OTTHUMG00000150937 uc003azl.6 U01877 NM_001429 CCDS14010 Q09472 7523245 MGI:1276116 RGD:620036 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EP300|LRG_1422|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1422.xml" EP300 602700 121560 objectId:2735 HGNC:3373 "ENST00000263253.9|NM_001429.4" HGNC:3373 +HGNC:50504 EP300-AS1 EP300 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Antisense RNAs 1987 2014-05-12 2014-05-12 101927279 ENSG00000231993 OTTHUMG00000150941 NR_110514 EP300-AS1 HGNC:50504 +HGNC:11958 EP400 E1A binding protein p400 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "CAGH32|KIAA1498|P400|KIAA1818|DKFZP434I225" hDomino(p400) TNRC12 trinucleotide repeat containing 12 "Myb/SANT domain containing|Tip60/Nua4 histone acetyltransferase complex subunits|Small nucleolar RNA protein coding host genes" "532|1634|1835" 2000-01-27 2002-02-08 2002-02-05 2020-01-06 57634 ENSG00000183495 OTTHUMG00000187346 uc001ujn.3 U80743 NM_015409 CCDS31929 Q96L91 "9225980|11509179" MGI:1276124 RGD:1304733 606265 HGNC:11958 "ENST00000389561.7|NM_015409.5" +HGNC:26602 EP400P1 EP400 pseudogene 1 pseudogene pseudogene Approved 12q24.33 12q24.33 FLJ33915 EP400NL EP400 N-terminal like 2006-02-10 2017-11-27 2017-11-27 2017-12-01 347918 ENSG00000185684 OTTHUMG00000168251 uc001ujs.5 AK091234 NR_003290 Q6ZTU2 12477932 HGNC:26602 +HGNC:3374 EPAS1 endothelial PAS domain protein 1 protein-coding gene gene with protein product Approved 2p21 02p21 "MOP2|PASD2|HIF2A|HLF|bHLHe73" HIF-1 alpha-like factor "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1998-05-29 2016-10-03 2034 ENSG00000116016 OTTHUMG00000128818 uc002ruv.3 U81984 NM_001430 CCDS1825 Q99814 "9000051|9079689|18378852" MGI:109169 RGD:68404 EPAS1 603349 183913 objectId:3148 HGNC:3374 "ENST00000263734.5|NM_001430.5" HGNC:3374 +HGNC:3377 EPB41 erythrocyte membrane protein band 4.1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 4.1R EL1 elliptocytosis 1, RH-linked "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1986-01-01 2014-05-09 2021-05-26 2035 ENSG00000159023 OTTHUMG00000003644 uc001brm.2 BC039079 NM_203342 "CCDS331|CCDS53289|CCDS332|CCDS85947|CCDS53288|CCDS330" P11171 9828140 MGI:95401 RGD:1564762 130500 121563 objectId:3151 HGNC:3377 "ENST00000343067.9|NM_001376013.1" HGNC:3377 +HGNC:3378 EPB41L1 erythrocyte membrane protein band 4.1 like 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "KIAA0338|4.1N" "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1997-11-27 2016-04-01 2021-05-26 2036 ENSG00000088367 OTTHUMG00000032378 uc002xfb.4 AB002336 NM_012156 "CCDS13271|CCDS58771|CCDS13272|CCDS58770" Q9H4G0 "9570967|9828140" MGI:103010 RGD:71087 602879 293091 HGNC:3378 "ENST00000338074.7|NM_012156.2" HGNC:3378 +HGNC:55728 EPB41L1-AS1 EPB41L1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 Antisense RNAs 1987 2021-07-16 2021-07-16 100130373 ENSG00000232406 NR_147703 +HGNC:3379 EPB41L2 erythrocyte membrane protein band 4.1 like 2 protein-coding gene gene with protein product Approved 6q23.1-q23.2 06q23.1-q23.2 "4.1-G|4.1G" "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1998-06-04 2016-04-01 2020-01-24 2037 ENSG00000079819 OTTHUMG00000015560 uc003qch.3 AF027299 NM_001135554 "CCDS87440|CCDS47474|CCDS56450|CCDS59037|CCDS5141|CCDS87439" O43491 "9598318|9828140" MGI:103009 RGD:1563977 603237 HGNC:3379 "ENST00000337057.8|NM_001431.4" +HGNC:3380 EPB41L3 erythrocyte membrane protein band 4.1 like 3 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "DAL1|KIAA0987|4.1B" "Erythrocyte membrane protein band 4.1|FERM domain containing" "951|1293" 1998-12-16 2016-04-01 2016-10-05 23136 ENSG00000082397 OTTHUMG00000131562 uc060naf.2 AB023204 NM_012307 "CCDS62382|CCDS82237|CCDS82236|CCDS62381|CCDS11838" Q9Y2J2 "9828140|9892180" MGI:103008 RGD:71089 605331 HGNC:3380 "ENST00000341928.7|NM_012307.5" +HGNC:13278 EPB41L4A erythrocyte membrane protein band 4.1 like 4A protein-coding gene gene with protein product Approved 5q22.1-q22.2 05q22.1-q22.2 NBL4 FERM domain containing 1293 2002-11-27 2018-02-13 64097 ENSG00000129595 OTTHUMG00000162902 uc063fzu.1 AB030240 NM_001347887 CCDS43350 Q9HCS5 10874211 MGI:103007 RGD:1306034 612141 HGNC:13278 "ENST00000261486.6|NM_022140.5" +HGNC:30749 EPB41L4A-AS1 EPB41L4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q22.1 05q22.1 TIGA1 transcript induced by growth arrest 1 "C5orf26|NCRNA00219" "chromosome 5 open reading frame 26|non-protein coding RNA 219|EPB41L4A antisense RNA 1 (non-protein coding)" "Small nucleolar RNA non-coding host genes|Antisense RNAs" "1839|1987" 2006-07-31 2011-08-11 2012-08-15 2019-03-08 114915 ENSG00000224032 OTTHUMG00000128803 uc003kpq.3 AB048207 NR_015370 "27980086|30796006" EPB41L4A-AS1 HGNC:30749 +HGNC:25643 EPB41L4A-DT EPB41L4A divergent transcript non-coding RNA RNA, long non-coding Approved 5q22.2 05q22.2 FLJ11235 EPB41L4A-AS2 EPB41L4A antisense RNA 2 (head to head) Divergent transcripts 1990 2013-07-26 2018-03-22 2018-03-22 2018-07-20 54508 ENSG00000278921 OTTHUMG00000169519 NR_027706 26980733 EPB41L4A-AS2 HGNC:25643 +HGNC:19818 EPB41L4B erythrocyte membrane protein band 4.1 like 4B protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "EHM2|LULU2" FERM domain containing 1293 2002-11-27 2019-07-16 54566 ENSG00000095203 OTTHUMG00000020470 uc004bdz.3 AB032179 NM_018424 "CCDS43860|CCDS43859" Q9H329 10783258 MGI:1859149 RGD:1562988 610340 HGNC:19818 "ENST00000374566.8|NM_019114.5" +HGNC:19819 EPB41L5 erythrocyte membrane protein band 4.1 like 5 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "KIAA1548|FLJ12957|BE37|YMO1|YRT|LULU|LULU1" yurt homolog (Drosophila) FERM domain containing 1293 2002-11-27 2019-07-16 57669 ENSG00000115109 OTTHUMG00000131433 uc002tmg.4 AK023019 NM_020909 "CCDS2130|CCDS82506|CCDS54392|CCDS54393" Q9HCM4 MGI:103006 RGD:1311366 611730 HGNC:19819 "ENST00000263713.10|NM_020909.4" +HGNC:3381 EPB42 erythrocyte membrane protein band 4.2 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 "PA|MGC116735|MGC116737" Erythrocyte surface protein band 4.2 Transglutaminases 773 1991-05-21 2021-04-13 2038 ENSG00000166947 OTTHUMG00000130701 uc001zra.5 M60298 NM_000119 "CCDS10093|CCDS45249" P16452 1284644 MGI:95402 RGD:1305306 LRG_1171|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1171.xml 177070 159566 HGNC:3381 "ENST00000441366.7|NM_001114134.2" HGNC:3381 +HGNC:19876 EPC1 enhancer of polycomb homolog 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 Epl1 enhancer of polycomb homolog 1 (Drosophila) Tip60/Nua4 histone acetyltransferase complex subunits 1634 2002-11-28 2016-02-01 2016-10-05 80314 ENSG00000120616 OTTHUMG00000017925 uc001iwh.3 AF277374 NM_001272004 "CCDS7172|CCDS60511|CCDS73083" Q9H2F5 10976108 MGI:1278322 RGD:2324280 610999 HGNC:19876 "ENST00000319778.11|NM_001272004.3" +HGNC:50717 EPC1-AS1 EPC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 Antisense RNAs 1987 2021-07-28 2021-07-28 102031319 ENSG00000229327 OTTHUMG00000017923 NR_104163 +HGNC:24543 EPC2 enhancer of polycomb homolog 2 protein-coding gene gene with protein product Approved 2q23.1 02q23.1 DKFZP566F2124 enhancer of polycomb homolog 2 (Drosophila) Tip60/Nua4 histone acetyltransferase complex subunits 1634 2004-05-04 2016-02-01 2016-10-05 26122 ENSG00000135999 OTTHUMG00000153739 uc010zbt.3 AF286904 NM_015630 CCDS46422 Q52LR7 MGI:1278321 RGD:1307271 611000 HGNC:24543 "ENST00000258484.11|NM_015630.4" +HGNC:11529 EPCAM epithelial cell adhesion molecule protein-coding gene gene with protein product Approved 2p21 02p21 "Ly74|TROP1|GA733-2|EGP34|EGP40|EGP-2|KSA|CD326|Ep-CAM|HEA125|KS1/4|MK-1|MH99|MOC31|MOC-31|323/A3|17-1A|TACST-1|CO-17A|ESA|BerEp4|Ber-Ep4" trophoblast cell surface antigen 1 "M4S1|MIC18|TACSTD1" "antigen identified by monoclonal antibody AUA1|tumor-associated calcium signal transducer 1" "CD molecules|MicroRNA protein coding host genes" "471|1691" 1995-10-02 2008-12-16 2008-12-16 2021-10-19 4072 ENSG00000119888 OTTHUMG00000128853 uc002rvx.4 M33011 NM_002354 CCDS1833 P16422 "8382772|11306819" MGI:106653 RGD:621365 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/EPCAM|LRG_215|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_215.xml" 185535 226018 CD326 HGNC:11529 "ENST00000263735.9|NM_002354.3" HGNC:11529 +HGNC:52639 EPCAM-DT EPCAM divergent transcript non-coding RNA RNA, long non-coding Approved 2p21 02p21 Divergent transcripts 1990 2018-09-27 2018-09-27 101927043 ENSG00000234690 OTTHUMG00000151698 NR_110208 HGNC:52639 +HGNC:51792 EPCART ERG-positive prostate cancer associated androgen responsive transcript non-coding RNA RNA, long non-coding Approved 2q31.3 02q31.3 "TPCAT-2-180961|PRCAT122|PCAT-2-180961" "Tampere prostate cancer–associated transcript-2-180961|ERG-positive PC-associated androgen responsive transcript" Long non-coding RNAs with non-systematic symbols 1992 2020-06-17 2020-06-24 105373767 HY049629 XR_001739225 "25599403|26282172|3038573|325553290" +HGNC:17572 EPDR1 ependymin related 1 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "MERP-1|MERP1|UCC1|EPDR" ependymin related protein 1 (zebrafish) 2005-02-09 2013-07-31 2016-04-25 54749 ENSG00000086289 OTTHUMG00000102187 uc003tfp.5 BC018299 NM_017549 "CCDS59052|CCDS5454|CCDS59051" Q9UM22 "11749721|11248421" MGI:2145369 RGD:1359161 619734 470282 HGNC:17572 "ENST00000199448.9|NM_017549.5" +HGNC:29331 EPG5 ectopic P-granules 5 autophagy tethering factor protein-coding gene gene with protein product Approved 18q12.3-q21.1 18q12.3-q21.1 hEPG5 KIAA1632 "KIAA1632|ectopic P-granules autophagy protein 5 homolog (C. elegans)|ectopic P-granules autophagy protein 5 homolog" 2005-01-06 2011-03-02 2022-02-10 2022-02-10 57724 ENSG00000152223 OTTHUMG00000132626 uc002lbm.4 AK023817 NM_020964 CCDS11926 Q9HCE0 "20550938|23222957|33674710" MGI:1918673 RGD:1306286 LRG_1234|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1234.xml 615068 323437 HGNC:29331 "ENST00000282041.11|NM_020964.3" HGNC:29331 +HGNC:17470 EPGN epithelial mitogen protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "EPG|PRO9904|ALGV3072" epigen epithelial mitogen homolog (mouse) 2006-10-17 2012-12-07 2020-03-10 255324 ENSG00000182585 OTTHUMG00000160869 uc003hic.3 NM_001013442 "CCDS59476|CCDS59478|CCDS59477|CCDS59475|CCDS59479" Q6UW88 MGI:1919170 RGD:1560084 618717 ligandId:4917 HGNC:17470 "ENST00000413830.6|NM_001270989.2" +HGNC:3385 EPHA1 EPH receptor A1 protein-coding gene gene with protein product Approved 7q34-q35 07q34-q35 EPH "EPHT|EPHT1" EphA1 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1989-05-16 2004-10-28 2018-02-13 2041 ENSG00000146904 OTTHUMG00000155894 uc003wcz.3 M18391 NM_005232 CCDS5884 P21709 9267020 MGI:107381 RGD:1304680 179610 objectId:1821 2.7.10.1 HGNC:3385 "ENST00000275815.4|NM_005232.5" +HGNC:27799 EPHA1-AS1 EPHA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q35 07q35 EPHA1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-19 285965 ENSG00000229153 OTTHUMG00000155893 uc003wda.6 AL833583 NR_033897 EPHA1-AS1 HGNC:27799 +HGNC:3386 EPHA2 EPH receptor A2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 ECK EphA2 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1991-08-07 2004-10-28 2021-05-26 1969 ENSG00000142627 OTTHUMG00000009527 uc001aya.2 BC037166 NM_004431 CCDS169 P29317 9119409 MGI:95278 RGD:1307204 176946 209474 objectId:1822 2.7.10.1 HGNC:3386 "ENST00000358432.8|NM_004431.5" HGNC:3386 +HGNC:40216 EPHA2-AS1 EPHA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Antisense RNAs 1987 2021-07-29 2021-07-29 101927479 ENSG00000227959 OTTHUMG00000009528 XR_007065487 +HGNC:3387 EPHA3 EPH receptor A3 protein-coding gene gene with protein product Approved 3p11.1 03p11.1 "HEK|HEK4" "ETK|ETK1|TYRO4" EphA3 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1993-06-23 2004-10-28 2016-10-05 2042 ENSG00000044524 OTTHUMG00000159040 uc003dqy.3 M83941 NM_005233 "CCDS46875|CCDS2922" P29320 "1737782|1311845" MGI:99612 RGD:68389 179611 objectId:1823 2.7.10.1 HGNC:3387 "ENST00000336596.7|NM_005233.6" +HGNC:3388 EPHA4 EPH receptor A4 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 Hek8 TYRO1 EphA4 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1992-10-02 2004-10-28 2016-10-05 2043 ENSG00000116106 OTTHUMG00000133142 uc002vmq.4 L36645 NM_001304536 "CCDS86924|CCDS2447" P54764 9267020 MGI:98277 RGD:1560587 602188 457688 objectId:1824 2.7.10.1 HGNC:3388 "ENST00000281821.7|NM_004438.5" +HGNC:3389 EPHA5 EPH receptor A5 protein-coding gene gene with protein product Approved 4q13.1-q13.2 04q13.1-q13.2 "Hek7|TYRO4|CEK7|EHK1" EphA5 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1997-10-10 2004-10-28 2018-02-13 2044 ENSG00000145242 OTTHUMG00000129273 uc011cah.3 L36644 NM_004439 "CCDS75132|CCDS75131|CCDS3513|CCDS3514|CCDS75133" P54756 "9267020|7528718" MGI:99654 RGD:620831 600004 objectId:1825 HGNC:3389 "ENST00000613740.5|NM_001281766.3" +HGNC:50602 EPHA5-AS1 EPHA5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q13.2 04q13.2 Antisense RNAs 1987 2014-05-22 2016-10-05 100144602 ENSG00000250846 OTTHUMG00000161982 NR_034138 EPHA5-AS1 HGNC:50602 +HGNC:19296 EPHA6 EPH receptor A6 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 FLJ35246 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 2004-06-25 2004-10-28 2016-10-05 285220 ENSG00000080224 OTTHUMG00000159208 uc010how.2 AK092565 NM_001080448 "CCDS46876|CCDS54616|CCDS63697" Q9UF33 12471243 MGI:108034 RGD:1304614 600066 objectId:1826 HGNC:19296 "ENST00000389672.10|NM_001080448.3" +HGNC:3390 EPHA7 EPH receptor A7 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 Hek11 EphA7 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1997-10-10 2004-10-28 2016-10-05 2045 ENSG00000135333 OTTHUMG00000015228 uc003poe.5 L36642 NM_001288629 "CCDS5031|CCDS75494" Q15375 9267020 MGI:95276 RGD:70957 602190 470284 objectId:1827 HGNC:3390 "ENST00000369303.9|NM_004440.4" +HGNC:3391 EPHA8 EPH receptor A8 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 Hek3 EEK EphA8 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1990-09-30 2004-10-28 2015-08-27 2046 ENSG00000070886 OTTHUMG00000002892 uc001bfx.2 BC038796 NM_020526 "CCDS225|CCDS30626" P29322 1648701 MGI:109378 RGD:708543 176945 objectId:1828 2.7.10.1 HGNC:3391 "ENST00000166244.8|NM_020526.5" +HGNC:19987 EPHA10 EPH receptor A10 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ16103|FLJ33655" "Sterile alpha motif domain containing|EPH receptors" "760|1095" 2005-01-21 2019-02-20 284656 ENSG00000183317 OTTHUMG00000004325 uc009vvi.4 AK090974 NM_173641 "CCDS425|CCDS41305" Q5JZY3 15777695 MGI:3586824 RGD:1562679 611123 objectId:1829 HGNC:19987 "ENST00000373048.9|NM_001099439.2" +HGNC:3392 EPHB1 EPH receptor B1 protein-coding gene gene with protein product Approved 3q22.2 03q22.2 Hek6 EPHT2 EphB1 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1995-03-23 2004-10-28 2016-01-15 2047 ENSG00000154928 OTTHUMG00000159804 uc003eqt.4 L40636 NM_004441 CCDS46921 P54762 8666391 MGI:1096337 RGD:2556 600600 objectId:1830 HGNC:3392 "ENST00000398015.8|NM_004441.5" +HGNC:3393 EPHB2 EPH receptor B2 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "Hek5|Tyro5" "DRT|ERK|EPHT3" EphB2 "Sterile alpha motif domain containing|EPH receptors|MicroRNA protein coding host genes" "760|1095|1691" 1995-05-09 2004-10-28 2021-05-26 2048 ENSG00000133216 OTTHUMG00000002881 uc001bge.4 AF025304 NM_017449 "CCDS230|CCDS229|CCDS81279" P29323 1648701 MGI:99611 RGD:1564232 LRG_780|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_780.xml 600997 121567 objectId:1831 2.7.10.1 HGNC:3393 "ENST00000374630.8|NM_017449.5" +HGNC:3394 EPHB3 EPH receptor B3 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "Hek2|Tyro6" ETK2 EphB3 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1993-12-07 2004-10-28 2015-09-11 2049 ENSG00000182580 OTTHUMG00000156710 uc003foz.4 X75208 NM_004443 CCDS3268 P54753 8397371 MGI:104770 RGD:1305602 601839 objectId:1832 HGNC:3394 "ENST00000330394.3|NM_004443.4" +HGNC:3395 EPHB4 EPH receptor B4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Tyro11 HTK EphB4 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1994-12-15 2004-10-28 2021-05-26 2050 ENSG00000196411 OTTHUMG00000157040 uc003uwn.2 AY056047 NM_004444 CCDS5706 P54760 8188704 MGI:104757 RGD:1583193 600011 objectId:1833 HGNC:3395 "ENST00000358173.8|NM_004444.5" HGNC:3395 +HGNC:3396 EPHB6 EPH receptor B6 protein-coding gene gene with protein product Approved 7q34 07q34 HEP EphB6 "Sterile alpha motif domain containing|EPH receptors" "760|1095" 1997-10-10 2004-10-28 2016-10-05 2051 ENSG00000106123 OTTHUMG00000155707 uc033ans.2 D83492 NM_001280794 "CCDS75672|CCDS5873" O15197 MGI:1096338 RGD:1306163 602757 objectId:1834 HGNC:3396 "ENST00000652003.1|NM_004445.6" +HGNC:3401 EPHX1 epoxide hydrolase 1 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 EPHX epoxide hydrolase 1, microsomal (xenobiotic) 1988-08-09 2016-01-20 2016-10-05 2052 ENSG00000143819 OTTHUMG00000037743 uc001hpk.4 J03518 NM_000120 CCDS1547 P07099 9925921 MGI:95405 RGD:2557 132810 121574 S33.971 3.3.2.9 HGNC:3401 "ENST00000272167.10|NM_001136018.4" HGNC:3401 +HGNC:3402 EPHX2 epoxide hydrolase 2 protein-coding gene gene with protein product Approved 8p21.2-p21.1 08p21.2-p21.1 ABHD20 epoxide hydrolase 2, cytoplasmic "Abhydrolase domain containing|HAD Asp-based non-protein phosphatases" "4|1045" 1994-07-26 2016-01-20 2019-01-28 2053 ENSG00000120915 OTTHUMG00000102115 uc003xfu.5 L05779 NM_001979 "CCDS59098|CCDS6060|CCDS59097" P34913 MGI:99500 RGD:620732 132811 S33.973 objectId:2970 "3.3.2.10|3.1.3.76" HGNC:3402 "ENST00000521400.6|NM_001979.6" HGNC:3402 +HGNC:23760 EPHX3 epoxide hydrolase 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ22408 ABHD9 abhydrolase domain containing 9 Abhydrolase domain containing 4 2003-12-08 2009-04-06 2009-04-06 2016-10-05 79852 ENSG00000105131 OTTHUMG00000183251 uc060ush.1 AK026061 NM_024794 CCDS12327 Q9H6B9 MGI:1919182 RGD:1307206 617400 S33.978 HGNC:23760 "ENST00000221730.8|NM_024794.3" +HGNC:23758 EPHX4 epoxide hydrolase 4 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "EPHXRP|FLJ90341|EH4" ABHD7 abhydrolase domain containing 7 Abhydrolase domain containing 4 2003-12-08 2009-04-06 2009-04-06 2019-02-20 253152 ENSG00000172031 OTTHUMG00000010114 uc001don.3 AK074822 NM_173567 CCDS736 Q8IUS5 22798687 MGI:2686228 RGD:1308891 617401 S33.978 HGNC:23758 "ENST00000370383.5|NM_173567.5" +HGNC:27672 EPIC1 epigenetically induced MYC interacting lncRNA 1 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Lnc-EPIC1 epigenetically-induced lncRNA1 Long non-coding RNAs with non-systematic symbols 1992 2021-11-15 2021-11-15 284930 ENSG00000224271 OTTHUMG00000150321 NR_122046 "29622465|29959919" +HGNC:49679 EPIST esophagus epithelial intergenic associated transcript non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 "CTC-276P9.1|Epist" esophagus epithelial intergenic specific transcript C5orf66-AS1 C5orf66 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2014-02-04 2021-02-12 2021-02-12 2021-02-12 101927953 ENSG00000249082 OTTHUMG00000163077 NR_105049 26158411 C5orf66-AS1 HGNC:49679 +HGNC:3413 EPM2A EPM2A glucan phosphatase, laforin protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "LDE|LD" "epilepsy, progressive myoclonus type 2, Lafora disease (laforin)|epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)|EPM2A, laforin glucan phosphatase" Atypical dual specificity phosphatases 896 1998-10-01 2019-01-25 2019-01-25 7957 ENSG00000112425 OTTHUMG00000015747 uc003qkw.4 AF284580 NM_001018041 "CCDS87453|CCDS5206|CCDS87454|CCDS87452" "B3EWF7|O95278" "9222970|7485240" MGI:1341085 RGD:71047 607566 121577 HGNC:3413 "ENST00000367519.9|NM_005670.4" HGNC:3413 +HGNC:48990 EPM2A-DT EPM2A divergent transcript non-coding RNA RNA, long non-coding Approved 6q24.3 06q24.3 FBXO30-DT FBXO30 divergent transcript Divergent transcripts 1990 2020-01-17 2021-06-30 2021-06-30 2021-06-30 100507557 ENSG00000235652 NR_038244 32079618 +HGNC:19735 EPM2AIP1 EPM2A interacting protein 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "KIAA0766|FLJ11207" laforin interacting protein 1 EPM2A (laforin) interacting protein 1 2003-03-26 2016-06-02 2016-10-05 9852 ENSG00000178567 OTTHUMG00000185486 uc003cgk.4 AB018309 NM_014805 CCDS46790 Q7L775 MGI:1925031 RGD:1310977 607911 HGNC:19735 "ENST00000322716.8|NM_014805.4" +HGNC:21604 EPN1 epsin 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 2003-06-27 2015-08-25 29924 ENSG00000063245 OTTHUMG00000180911 uc002qlw.4 AF073727 NM_013333 "CCDS46198|CCDS46199|CCDS46200" Q9Y6I3 "9723620|10557078" MGI:1333763 RGD:619772 607262 HGNC:21604 "ENST00000270460.11|NM_001130072.2" +HGNC:18639 EPN2 epsin 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "KIAA1065|EHB21" Eps15 binding protein 2002-05-14 2015-07-31 22905 ENSG00000072134 OTTHUMG00000187034 uc002gvd.5 AB028988 NM_014964 "CCDS42277|CCDS11204|CCDS11203" O95208 10567358 MGI:1333766 RGD:619773 607263 HGNC:18639 "ENST00000314728.10|NM_014964.5" +HGNC:40849 EPN2-AS1 EPN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 EPN2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-21 2012-08-15 2014-11-18 100874018 ENSG00000235397 OTTHUMG00000130623 uc031qzg.1 NR_048576 EPN2-AS1 HGNC:40849 +HGNC:41445 EPN2-IT1 EPN2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 EPN2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874309 NR_046824 EPN2-IT1 HGNC:41445 +HGNC:18235 EPN3 epsin 3 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ20778|MGC129899" 2002-05-14 2020-01-06 55040 ENSG00000049283 OTTHUMG00000162155 uc002ira.5 AF324241 NM_017957 CCDS11570 Q9H201 "10951261|11359770" MGI:1919139 RGD:1306416 607264 HGNC:18235 "ENST00000268933.8|NM_017957.3" +HGNC:3415 EPO erythropoietin protein-coding gene gene with protein product Approved 7q22.1 07q22.1 EP Receptor ligands 542 2001-06-22 2017-07-26 2056 ENSG00000130427 OTTHUMG00000152121 uc003uwi.5 X02157 NM_000799 CCDS5705 P01588 "9799793|3838366" MGI:95407 RGD:2559 133170 470286 ligandId:4921 HGNC:3415 "ENST00000252723.3|NM_000799.4" HGNC:3415 +HGNC:34493 EPOP elongin BC and polycomb repressive complex 2 associated protein protein-coding gene gene with protein product Approved 17q12 17q12 "LOC100170841|PRR28" proline rich 28 C17orf96 chromosome 17 open reading frame 96 2008-08-06 2016-10-31 2016-10-31 2016-12-12 100170841 ENSG00000273604 OTTHUMG00000188495 uc010wdq.3 NM_001130677 CCDS45661 A6NHQ4 "24550272|27863225|27863226" MGI:2143991 RGD:1587434 617795 HGNC:34493 "ENST00000621654.2|NM_001130677.2" +HGNC:3416 EPOR erythropoietin receptor protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Fibronectin type III domain containing 555 1990-05-14 2017-07-12 2057 ENSG00000187266 OTTHUMG00000182027 uc002mrj.3 M34986 NM_000121 CCDS12260 P19235 MGI:95408 RGD:2560 133171 121581 objectId:1718 HGNC:3416 "ENST00000222139.11|NM_000121.4" HGNC:3416 +HGNC:15932 EPPIN epididymal peptidase inhibitor protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "EPPIN1|EPPIN2|EPPIN3|dJ461P17.2|WAP7|WFDC7|CT71" "epididymal protease inhibitor|cancer/testis antigen 72" SPINLW1 "serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)|serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)" WAP four-disulfide core domain containing 361 2001-07-31 2012-08-22 2012-08-22 2014-11-19 57119 ENSG00000101448 OTTHUMG00000032588 uc002xou.4 AF286370 NM_001302861 CCDS13359 O95925 "11404006|12206714" MGI:1922776 RGD:1597722 609031 HGNC:15932 "ENST00000354280.9|NM_020398.4" +HGNC:38825 EPPIN-WFDC6 EPPIN-WFDC6 readthrough other readthrough Approved 20q13.12 20q13.12 SPINLW1-WFDC6 SPINLW1-WFDC6 readthrough 2011-02-21 2012-09-03 2012-09-03 2014-11-19 100526773 ENSG00000249139 OTTHUMG00000161548 uc010zxc.3 NM_001198986.1 CCDS56195 "O95925|Q9BQY6" "MGI:1922776|MGI:3575430" HGNC:38825 +HGNC:15577 EPPK1 epiplakin 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 EPIPL1 epidermal autoantigen 450K Plakins 939 2001-04-26 2021-04-13 83481 ENSG00000261150 OTTHUMG00000165206 uc003zaa.3 AB051895 NM_031308 CCDS75800 P58107 "11278896|15671067" MGI:2386306 RGD:1587023 LRG_880|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_880.xml 607553 HGNC:15577 "ENST00000615648.2|NM_031308.4" +HGNC:3418 EPRS1 glutamyl-prolyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 1q41 01q41 "EARS|PARS|GLUPRORS" "glutamate tRNA ligase|proline tRNA ligase" "QPRS|QARS|EPRS" glutamyl-prolyl-tRNA synthetase "Aminoacyl tRNA synthetases, Class I|Aminoacyl tRNA synthetases, Class II" "131|132" 1991-02-20 2019-08-14 2019-08-14 2019-08-14 2058 ENSG00000136628 OTTHUMG00000037433 uc001hly.2 X54326 NM_004446 CCDS31027 P07814 "1988429|8188258" MGI:97838 RGD:1310952 138295 "6.1.1.15|6.1.1.17" HGNC:3418 "ENST00000366923.8|NM_004446.3" +HGNC:3420 EPS8 epidermal growth factor receptor pathway substrate 8 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 1994-12-19 2016-10-24 2059 ENSG00000151491 OTTHUMG00000168787 uc001rdb.4 U12535 NM_004447 CCDS31753 Q12929 8084614 MGI:104684 RGD:1310590 600206 402371 HGNC:3420 "ENST00000281172.10|NM_004447.6" HGNC:3420 +HGNC:21295 EPS8L1 EPS8 like 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ20258|DRC3|MGC23164|MGC4642" 2003-06-05 2015-11-17 2020-01-06 54869 ENSG00000131037 OTTHUMG00000180513 uc002qis.5 AK057052 NM_017729 "CCDS12915|CCDS12914" Q8TE68 12620401 MGI:1914675 RGD:1311146 614987 HGNC:21295 "ENST00000201647.11|NM_133180.3" +HGNC:21296 EPS8L2 EPS8 like 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ21935|FLJ22171|MGC3088" EPS8-like 2 2003-06-05 2016-01-20 2020-01-06 64787 ENSG00000177106 OTTHUMG00000165165 uc001lqt.4 AF318331 NM_022772 CCDS31328 Q9H6S3 12620401 MGI:2138828 RGD:1310912 614988 HGNC:21296 "ENST00000318562.13|NM_022772.4" HGNC:21296 +HGNC:21297 EPS8L3 EPS8 like 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ21522|MGC16817" EPS8-like 3 2003-06-05 2016-01-20 2016-10-05 79574 ENSG00000198758 OTTHUMG00000011651 uc001dyq.3 AK025175 NM_024526 "CCDS813|CCDS814|CCDS815" Q8TE67 12620401 MGI:2139743 RGD:11498829 614989 320535 HGNC:21297 "ENST00000361965.9|NM_133181.4" HGNC:21297 +HGNC:3419 EPS15 epidermal growth factor receptor pathway substrate 15 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "AF-1P|MLLT5" EF-hand domain containing 863 1994-12-19 2016-10-05 2060 ENSG00000085832 OTTHUMG00000008192 uc001csq.2 BC054006 NM_001981 CCDS557 P42566 8183552 MGI:104583 RGD:1305550 EPS15 600051 HGNC:3419 "ENST00000371733.8|NM_001981.3" +HGNC:40219 EPS15-AS1 EPS15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Antisense RNAs 1987 2019-07-25 2019-07-25 105378720 ENSG00000227070 OTTHUMG00000008232 XR_007066080 HGNC:40219 +HGNC:24634 EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 eps15R epidermal growth factor receptor pathway substrate 15-like 1 EF-hand domain containing 863 2004-02-10 2016-05-12 2016-10-05 58513 ENSG00000127527 OTTHUMG00000182361 uc002ndz.3 AF110265 NM_021235 "CCDS58653|CCDS59363|CCDS58654|CCDS32944" Q9UBC2 21700002 MGI:104582 RGD:1565708 616826 HGNC:24634 "ENST00000455140.7|NM_001258374.3" HGNC:24634 +HGNC:18166 EPS15P1 epidermal growth factor receptor pathway substrate 15 pseudogene 1 pseudogene pseudogene Approved 7p12.3 07p12.3 PRO1866 EPS15L2 epidermal growth factor receptor pathway substrate 15-like 2 2004-02-10 2010-12-08 2010-12-08 2014-11-19 55380 ENSG00000242948 OTTHUMG00000155470 AF119858 NG_008280 HGNC:18166 +HGNC:16465 EPSTI1 epithelial stromal interaction 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "BRESI1|MGC29634" epithelial stromal interaction protein 1 epithelial stromal interaction 1 (breast) 2001-09-05 2016-09-27 2016-10-05 94240 ENSG00000133106 OTTHUMG00000016814 uc001uyx.3 AF396928 NM_001002264 "CCDS9387|CCDS81765|CCDS31964" Q96J88 11991720 MGI:1915168 RGD:1563207 607441 HGNC:16465 "ENST00000313624.12|NM_033255.5" +HGNC:3423 EPX eosinophil peroxidase protein-coding gene gene with protein product Approved 17q22 17q22 "EPO|EPP|EPX-PEN" 1998-11-24 2016-10-05 8288 ENSG00000121053 OTTHUMG00000178802 uc002ivq.4 M26515 NM_000502 CCDS11602 P11678 "2550461|2541222" MGI:107569 RGD:1311882 131399 470290 1.11.1.7 HGNC:3423 "ENST00000225371.6|NM_000502.6" HGNC:3423 +HGNC:3053 EPYC epiphycan protein-coding gene gene with protein product Approved 12q21.33 12q21.33 "Pg-Lb|SLRR3B" epiphycan proteoglycan DSPG3 "dermatan sulphate proteoglycan 3|dermatan sulfate proteoglycan 3" Small leucine rich repeat proteoglycans 573 1996-05-30 2006-11-21 2006-11-21 2016-10-05 1833 ENSG00000083782 OTTHUMG00000170072 uc001tbk.3 AF031658 NM_004950 CCDS31870 Q99645 8975717 MGI:107942 RGD:1305904 601657 HGNC:3053 "ENST00000261172.8|NM_004950.5" HGNC:3053 +HGNC:1359 EQTN equatorin protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "AFAF|SPACA8|equatorin" "Acr formation associated factor|Acrosome formation associated factor|sperm acrosome associated 8" C9orf11 C9orf11 2000-06-16 2012-09-20 2015-11-27 2020-09-17 54586 ENSG00000120160 OTTHUMG00000021033 uc003zql.4 AJ278482 NM_020641 "CCDS35001|CCDS55300" Q9NQ60 MGI:1915003 RGD:1563332 617653 HGNC:1359 "ENST00000380032.8|NM_020641.3" +HGNC:3424 ERAL1 Era like 12S mitochondrial rRNA chaperone 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 HERA-B "Era (E. coli G-protein homolog)-like 1|Era G-protein-like 1 (E. coli)|Era-like 12S mitochondrial rRNA chaperone 1" 1999-11-19 2016-03-31 2016-03-31 26284 ENSG00000132591 OTTHUMG00000132675 uc002hcy.2 AF082657 NM_001317985 CCDS11244 O75616 "10945472|20604745" MGI:1889295 RGD:1304714 607435 HGNC:3424 "ENST00000254928.10|NM_005702.4" HGNC:3424 +HGNC:18173 ERAP1 endoplasmic reticulum aminopeptidase 1 protein-coding gene gene with protein product Approved 5q15 05q15 "ARTS-1|A-LAP|PILS-AP|KIAA0525|ERAAP1" "aminopeptidase regulator of TNFR1 shedding|adipocyte-derived leucine aminopeptidase|puromycin-insensitive leucyl-specific aminopeptidase" "Aminopeptidases|Minor histocompatibility antigens|M1 metallopeptidases" "104|870|1437" 2007-11-21 2015-09-11 51752 ENSG00000164307 OTTHUMG00000128721 uc003kml.4 AB011097 NM_016442 "CCDS47250|CCDS4085" Q9NZ08 "10220586|12189246|16286653" MGI:1933403 RGD:708542 606832 449094 M01.018 objectId:1566 HGNC:18173 "ENST00000443439.7|NM_001040458.3" +HGNC:29499 ERAP2 endoplasmic reticulum aminopeptidase 2 protein-coding gene gene with protein product Approved 5q15 05q15 "L-RAP|LRAP" leukocyte-derived arginine aminopeptidase "Aminopeptidases|M1 metallopeptidases" "104|1437" 2007-11-21 2014-11-19 64167 ENSG00000164308 OTTHUMG00000128718 uc003kmq.4 AF191545 NM_022350 "CCDS87317|CCDS4086|CCDS87316" Q6P179 "12799365|15908954" 609497 M01.024 objectId:1567 HGNC:29499 "ENST00000437043.8|NM_022350.5" +HGNC:5174 ERAS ES cell expressed Ras protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "HRAS2|HRASP" v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene RAS type GTPase family 389 2001-06-22 2003-07-16 2003-07-14 2015-08-25 3266 ENSG00000187682 OTTHUMG00000059533 uc064zbl.1 X00419 NM_181532 CCDS35246 Q7Z444 12774123 MGI:2665023 RGD:1585907 300437 HGNC:5174 "ENST00000636362.1|NM_181532.3" +HGNC:3430 ERBB2 erb-b2 receptor tyrosine kinase 2 protein-coding gene gene with protein product Approved 17q12 17q12 "NEU|HER-2|CD340|HER2|c-ERB2|c-ERB-2" "neuro/glioblastoma derived oncogene homolog|human epidermal growth factor receptor 2" NGL "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2" "CD molecules|Minor histocompatibility antigens|Erb-b2 receptor tyrosine kinases|MicroRNA protein coding host genes" "471|870|1096|1691" 2001-06-22 2014-12-19 2022-02-10 2064 ENSG00000141736 OTTHUMG00000179300 uc002hso.4 X03363 NM_004448 "CCDS77017|CCDS77016|CCDS32642|CCDS74052|CCDS45667" P04626 MGI:95410 RGD:2561 LRG_724|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_724.xml ERBB2 164870 objectId:2019 CD340 HGNC:3430 "ENST00000269571.10|NM_004448.4" HGNC:3430 +HGNC:3431 ERBB3 erb-b2 receptor tyrosine kinase 3 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 HER3 human epidermal growth factor receptor 3 LCCS2 "lethal congenital contracture syndrome 2|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3" Erb-b2 receptor tyrosine kinases 1096 1990-07-15 2014-12-19 2021-05-26 2065 ENSG00000065361 OTTHUMG00000170140 uc001sjh.4 M34309 NM_001982 "CCDS31833|CCDS44918" P21860 MGI:95411 RGD:69323 LRG_996|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_996.xml ERBB3 190151 160236 objectId:1798 HGNC:3431 "ENST00000267101.8|NM_001982.4" HGNC:3431 +HGNC:3432 ERBB4 erb-b2 receptor tyrosine kinase 4 protein-coding gene gene with protein product Approved 2q34 02q34 "ALS19|HER4" human epidermal growth factor receptor 4 "v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4" "Erb-b2 receptor tyrosine kinases|MicroRNA protein coding host genes" "1096|1691" 1995-09-07 2014-12-19 2016-10-05 2066 ENSG00000178568 OTTHUMG00000133012 uc002veg.2 L07868 NM_001042599 "CCDS42811|CCDS2394" Q15303 "7700649|17018285" MGI:104771 RGD:620486 ERBB4 600543 370064 objectId:1799 HGNC:3432 "ENST00000342788.9|NM_005235.3" HGNC:3432 +HGNC:15842 ERBIN erbb2 interacting protein protein-coding gene gene with protein product Approved 5q12.3 05q12.3 LAP2 "densin-180-like protein|ERBB2-interacting protein" ERBB2IP erbb2-interacting protein PDZ domain containing 1220 2001-06-18 2016-02-17 2001-11-29 2016-10-05 55914 ENSG00000112851 OTTHUMG00000097808 uc003jui.3 NM_018695 "CCDS58953|CCDS58952|CCDS3990|CCDS34172|CCDS58951|CCDS58954" Q96RT1 "10574462|10878805" MGI:1890169 RGD:1562952 606944 470292 HGNC:15842 "ENST00000284037.10|NM_001253697.2" +HGNC:55270 ERBIN-DT ERBIN divergent transcript non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 Divergent transcripts 1990 2020-10-01 2020-10-01 118732300 ENSG00000269961 +HGNC:17072 ERC1 ELKS/RAB6-interacting/CAST family member 1 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "ELKS|KIAA1081|CAST2|MGC12974" RAB6IP2 RAB6 interacting protein 2 2004-11-26 2006-08-14 2006-08-14 2016-10-05 23085 ENSG00000082805 OTTHUMG00000130138 uc001qjb.3 AB015617 NM_015064 "CCDS76504|CCDS53732|CCDS8508" Q8IUD2 "10697956|11929610" MGI:2151013 RGD:628733 ERC1 607127 121583 HGNC:17072 "ENST00000360905.9|NM_178040.4" +HGNC:31922 ERC2 ELKS/RAB6-interacting/CAST family member 2 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "CAST|CAST1|KIAA0378|SPBC110|Spc110|ELKSL" MicroRNA protein coding host genes 1691 2006-08-14 2015-09-11 26059 ENSG00000187672 OTTHUMG00000158390 uc062kue.1 AB002376 NM_015576 CCDS46851 O15083 MGI:1098749 RGD:708372 617250 HGNC:31922 "ENST00000288221.11|NM_015576.3" +HGNC:1229 ERC2-IT1 ERC2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 Po42 "C1orf1|C3orf51" "chromosome 1 open reading frame 1|chromosome 3 open reading frame 51|ERC2 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 1998-08-06 2012-05-30 2015-02-25 2020-01-06 711 ENSG00000281708 OTTHUMG00000189578 uc003dhs.5 U88965 NR_024615 O76042 9653645 ERC2-IT1 HGNC:1229 +HGNC:3433 ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 RAD10 "excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)|excision repair cross-complementation group 1" ERCC excision repair associated 1268 2001-06-22 2016-05-23 2021-05-26 2067 ENSG00000012061 OTTHUMG00000182121 uc002pbs.3 NM_001983 "CCDS12663|CCDS12662|CCDS54279" P07992 "6462228|26939044" MGI:95412 RGD:1306992 LRG_305|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_305.xml 126380 139163 HGNC:3433 "ENST00000300853.8|NM_001983.4" HGNC:3433 +HGNC:3434 ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "MAG|EM9|MGC102762|MGC126218|MGC126219" "excision repair cross-complementing rodent repair deficiency, complementation group 2 protein|TFIIH basal transcription factor complex helicase XPB subunit" XPD "xeroderma pigmentosum complementary group D|excision repair cross-complementing rodent repair deficiency, complementation group 2|excision repair cross-complementation group 2" "Xeroderma pigmentosum complementation groups|DNA helicases|ERCC excision repair associated|General transcription factor IIH complex subunits" "1125|1167|1268|1745" 2001-06-22 2016-05-23 2021-04-13 2068 ENSG00000104884 OTTHUMG00000048190 uc002pbj.3 NM_000400 "CCDS46112|CCDS33049" P18074 "8413672|2184031" MGI:95413 RGD:1309109 "The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=ERCC2|LRG_461|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_461.xml" ERCC2 126340 121590 3.6.4.12 HGNC:3434 "ENST00000391945.10|NM_000400.4" HGNC:3434 +HGNC:3435 ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "XPB|BTF2|RAD25|Ssl2" xeroderma pigmentosum group B complementing "excision repair cross-complementing rodent repair deficiency, complementation group 3|excision repair cross-complementation group 3" "Xeroderma pigmentosum complementation groups|DNA helicases|ERCC excision repair associated|General transcription factor IIH complex subunits" "1125|1167|1268|1745" 2001-06-22 2016-05-23 2021-04-13 2071 ENSG00000163161 OTTHUMG00000131530 uc002toh.1 M31899 NM_000122 CCDS2144 P19447 8202161 MGI:95414 RGD:1307139 LRG_462|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_462.xml ERCC3 133510 132264 3.6.4.12 HGNC:3435 "ENST00000285398.7|NM_000122.2" HGNC:3435 +HGNC:3436 ERCC4 ERCC excision repair 4, endonuclease catalytic subunit protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "RAD1|FANCQ" xeroderma pigmentosum, complementation group F XPF "excision repair cross-complementing rodent repair deficiency, complementation group 4|excision repair cross-complementation group 4" "FA complementation groups|Xeroderma pigmentosum complementation groups|ERCC excision repair associated" "548|1125|1268" 2001-06-22 2016-05-23 2021-04-13 2072 ENSG00000175595 OTTHUMG00000048194 uc002dce.3 L76568 NM_005236 CCDS32390 Q92889 "9579555|8887684" MGI:1354163 RGD:1560340 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_463|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_463.xml" ERCC4 133520 121595 HGNC:3436 "ENST00000311895.8|NM_005236.3" HGNC:3436 +HGNC:3437 ERCC5 ERCC excision repair 5, endonuclease protein-coding gene gene with protein product Approved 13q33.1 13q33.1 Cockayne syndrome "ERCM2|XPGC" "xeroderma pigmentosum, complementation group G|excision repair cross-complementing rodent repair deficiency, complementation group 5|excision repair cross-complementation group 5" "Xeroderma pigmentosum complementation groups|ERCC excision repair associated" "1125|1268" 2001-06-22 2016-05-23 2021-05-26 2073 ENSG00000134899 OTTHUMG00000017310 uc001vpw.4 X71342 NM_000123 CCDS32004 P28715 8088806 MGI:103582 RGD:1586176 LRG_464|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_464.xml ERCC5 133530 132271 HGNC:3437 "ENST00000652225.2|NM_000123.4" HGNC:3437 +HGNC:3438 ERCC6 ERCC excision repair 6, chromatin remodeling factor protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "CSB|RAD26|ARMD5" Cockayne syndrome B protein CKN2 "excision repair cross-complementing rodent repair deficiency, complementation group 6|excision repair cross-complementation group 6" "ERCC excision repair associated|B-WICH chromatin-remodelling complex subunits" "1268|1787" 1989-06-30 2016-05-23 2021-04-13 2074 ENSG00000225830 OTTHUMG00000018195 uc001jhs.6 L04791 NM_000124 "CCDS60529|CCDS7229" "P0DP91|Q03468" "1339317|19179336" MGI:1100494 RGD:1311509 LRG_465|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_465.xml 609413 121599 3.6.4.- HGNC:3438 "ENST00000355832.10|NM_000124.4" HGNC:3438 +HGNC:20794 ERCC6L ERCC excision repair 6 like, spindle assembly checkpoint helicase protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "FLJ20105|PICH|RAD26L" PLK1-interacting checkpoint helicase "excision repair cross-complementing rodent repair deficiency, complementation group 6-like|excision repair cross-complementation group 6 like" 2007-08-02 2016-05-23 2016-05-23 54821 ENSG00000186871 OTTHUMG00000021810 uc004eaq.2 AK000112 NM_017669 CCDS35329 Q2NKX8 "17218258|26643143" MGI:2654144 RGD:1565734 300687 HGNC:20794 "ENST00000334463.4|NM_017669.4" +HGNC:26922 ERCC6L2 ERCC excision repair 6 like 2 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "FLJ37706|RAD26L|HEBO" C9orf102 "chromosome 9 open reading frame 102|excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2|excision repair cross-complementation group 6 like 2" 2004-03-11 2012-03-30 2016-05-23 2020-04-20 375748 ENSG00000182150 OTTHUMG00000020289 uc004avt.5 BC022957 NM_001010895 CCDS35072 Q5T890 "24507776|27185855" MGI:1923501 RGD:1561537 615667 403281 HGNC:26922 "ENST00000653738.2|NM_020207.7" HGNC:26922 +HGNC:27858 ERCC6L2-AS1 ERCC6L2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q22.32 09q22.32 "C9orf130|LINC00476" "chromosome 9 open reading frame 130|long intergenic non-protein coding RNA 476" Antisense RNAs 1987 2004-04-16 2021-11-08 2021-11-08 2021-11-08 100128782 ENSG00000175611 OTTHUMG00000020286 uc064unj.1 AK092137 NR_023389 Q8WZB0 33370431 LINC00476 HGNC:27858 +HGNC:3439 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit protein-coding gene gene with protein product Approved 5q12.1 05q12.1 CSA CKN1 "Cockayne syndrome 1 (classical)|excision repair cross-complementing rodent repair deficiency, complementation group 8|excision repair cross-complementation group 8" "WD repeat domain containing|ERCC excision repair associated" "362|1268" 1995-02-07 2016-05-23 2021-05-26 1161 ENSG00000049167 OTTHUMG00000097741 uc003jsm.4 U28413 NM_000082 CCDS3978 Q13216 8596535 MGI:1919241 RGD:1311570 LRG_466|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_466.xml 609412 121604 HGNC:3439 "ENST00000676185.1|NM_000082.4" HGNC:3439 +HGNC:40220 ERCC8-AS1 ERCC8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q12.1 05q12.1 Antisense RNAs 1987 2019-07-25 2019-07-25 105378991 ENSG00000233847 OTTHUMG00000153833 XR_001742670 HGNC:40220 +HGNC:3442 ERDA1 expanded repeat domain, CAG/CTG 1 other region Approved 17q21.3 17q21.3 1999-01-21 2008-08-27 9030 AB007820 "9398837|9774773" 603279 +HGNC:3443 EREG epiregulin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 ER 1998-02-11 2016-10-05 2069 ENSG00000124882 OTTHUMG00000130005 uc003hie.2 D30783 NM_001432 CCDS3564 O14944 9337852 MGI:107508 RGD:620299 602061 ligandId:4918 HGNC:3443 "ENST00000244869.3|NM_001432.3" +HGNC:3444 ERF ETS2 repressor factor protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PE-2|PE2" Ets2 repressor factor ETS transcription factor family 534 1998-07-17 2016-02-24 2016-10-05 2077 ENSG00000105722 OTTHUMG00000182788 uc002ote.5 U58535 NM_006494 "CCDS77308|CCDS12600" P50548 "7588608|9192842" MGI:109637 RGD:1311991 611888 332108 HGNC:3444 "ENST00000222329.9|NM_006494.4" HGNC:3444 +HGNC:26727 ERFE erythroferrone protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ37034|CTRP15|C1QTNF15" myonectin FAM132B family with sequence similarity 132, member B C1q and TNF related 1372 2007-03-27 2016-05-27 2016-05-27 2018-11-15 151176 ENSG00000178752 OTTHUMG00000152901 uc061udn.1 AK094353 NM_001291832 CCDS77548 Q4G0M1 "22351773|26322167" MGI:3606476 RGD:1584688 615099 470294 HGNC:26727 "ENST00000546354.6|NM_001291832.2" +HGNC:53894 ERFL ETS repressor factor like protein-coding gene gene with protein product Approved 19q13.2 19q13.2 erfl1 2019-06-18 2019-06-18 390937 ENSG00000268041 OTTHUMG00000182736 NM_001365103 A0A1W2PQ73 MGI:3642958 RGD:1563034 HGNC:53894 "ENST00000597630.3|NM_001365103.2" +HGNC:3446 ERG ETS transcription factor ERG protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "erg-3|p55" "transcriptional regulator ERG (transforming protein ERG)|v-ets erythroblastosis virus E26 oncogene like|TMPRSS2-ERG prostate cancer specific|ETS-related gene" "v-ets avian erythroblastosis virus E26 oncogene related|v-ets avian erythroblastosis virus E26 oncogene homolog" ETS transcription factor family 534 2001-06-22 2018-08-15 2019-11-01 2078 ENSG00000157554 OTTHUMG00000090767 uc002yxa.4 NM_182918 "CCDS13658|CCDS82674|CCDS46649|CCDS46648|CCDS13657|CCDS58789" P11308 3274086 MGI:95415 RGD:621108 ERG 165080 121608 HGNC:3446 "ENST00000288319.12|NM_182918.4" +HGNC:1187 ERG28 ergosterol biosynthesis 28 homolog protein-coding gene gene with protein product Approved 14q24.3 14q24.3 NET51 C14orf1 chromosome 14 open reading frame 1 1999-03-19 2017-05-26 2017-05-26 2020-09-17 11161 ENSG00000133935 OTTHUMG00000171488 uc001xrt.4 AF134159 NM_007176 CCDS9845 Q9UKR5 "10449901|12958361|11160377" MGI:1915571 RGD:1310769 604576 HGNC:1187 "ENST00000256319.7|NM_007176.4" +HGNC:29205 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "ERGIC32|ERGIC-32|KIAA1181|NET24" endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 2006-01-19 2015-05-27 2015-05-27 57222 ENSG00000113719 OTTHUMG00000130520 uc003mbw.5 AF267855 NM_020462 CCDS34292 Q969X5 "10574461|15308636" MGI:1914708 RGD:1585015 617946 HGNC:29205 "ENST00000393784.8|NM_001031711.3" HGNC:29205 +HGNC:30208 ERGIC2 ERGIC and golgi 2 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "PTX1|Erv41" 2006-01-19 2020-01-06 51290 ENSG00000087502 OTTHUMG00000169322 uc001riv.4 AF216751 NM_016570 CCDS41765 Q96RQ1 "11445006|12932305" MGI:1914706 RGD:1310606 612236 HGNC:30208 "ENST00000360150.9|NM_016570.3" +HGNC:15927 ERGIC3 ERGIC and golgi 3 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "CGI-54|PRO0989|NY-BR-84|Erv46" "SDBCAG84|C20orf47" "serologically defined breast cancer antigen 84|chromosome 20 open reading frame 47" 2001-07-31 2006-01-19 2006-01-19 2015-08-25 51614 ENSG00000125991 OTTHUMG00000032346 uc002xcs.4 AF077030 NM_015966 "CCDS13258|CCDS13257" Q9Y282 10810093 MGI:1913616 RGD:1308144 616971 HGNC:15927 "ENST00000348547.7|NM_015966.3" +HGNC:3447 ERH ERH mRNA splicing and mitosis factor protein-coding gene gene with protein product Approved 14q24.1 14q24.1 DROER "enhancer of rudimentary (Drosophila) homolog|enhancer of rudimentary homolog (Drosophila)" 1995-10-06 2019-01-21 2019-01-21 2079 ENSG00000100632 OTTHUMG00000171323 uc001xlc.3 BC014301 NM_004450 CCDS9794 P84090 "8786099|9074495|23236152" MGI:108089 RGD:1595409 601191 HGNC:3447 "ENST00000557016.6|NM_004450.3" +HGNC:41916 ERHP1 ERH pseudogene 1 pseudogene pseudogene Approved 7q34 07q34 enhancer of rudimentary homolog (Drosophila) pseudogene 1 2011-05-18 2017-05-22 2017-05-22 100507125 ENSG00000254270 OTTHUMG00000164901 NG_029010 PGOHUM00000233594 HGNC:41916 +HGNC:41917 ERHP2 ERH pseudogene 2 pseudogene pseudogene Approved 6p12.1 06p12.1 enhancer of rudimentary homolog (Drosophila) pseudogene 2 2011-05-18 2017-05-22 2017-05-22 100874403 ENSG00000218143 OTTHUMG00000014888 NG_032374 PGOHUM00000243206 HGNC:41917 +HGNC:23994 ERI1 exoribonuclease 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 3'HEXO "exoribonuclease 1|enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)" THEX1 three prime histone mRNA exonuclease 1 "Exonucleases|MicroRNA protein coding host genes" "544|1691" 2005-05-24 2008-12-16 2008-12-16 2014-11-19 90459 ENSG00000104626 OTTHUMG00000129328 uc064kcn.1 BC035279 NM_153332 CCDS5972 Q8IV48 14536070 MGI:1914526 RGD:1308378 608739 HGNC:23994 "ENST00000250263.8|NM_153332.4" +HGNC:30541 ERI2 ERI1 exoribonuclease family member 2 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "KIAA1504|MGC16943|ZGRF5" "enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)|exoribonuclease 2|zinc finger, GRF-type containing 5" EXOD1 exonuclease domain containing 1 "Zinc fingers GRF-type|Exonucleases" "135|544" 2006-04-04 2008-12-16 2009-10-07 2016-07-14 112479 ENSG00000196678 OTTHUMG00000131557 uc010vbb.3 BC010503 NM_080663 "CCDS10590|CCDS45436" A8K979 10819331 MGI:1918401 RGD:1583889 3.1.-.- HGNC:30541 "ENST00000357967.9|NM_001142725.2" +HGNC:17276 ERI3 ERI1 exoribonuclease family member 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLJ22943|PINT1" "enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)|exoribonuclease 3" PRNPIP prion protein interacting protein Exonucleases 544 2001-12-13 2008-12-16 2009-10-07 2015-09-11 79033 ENSG00000117419 OTTHUMG00000007637 uc001clt.4 AF007157 NM_024066 CCDS30696 O43414 MGI:2153887 RGD:1595859 609917 HGNC:17276 "ENST00000372257.7|NM_024066.3" +HGNC:41431 ERI3-IT1 ERI3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p34.1 01p34.1 ERI3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874278 ENSG00000233602 OTTHUMG00000037293 uc031tze.2 NR_046817 ERI3-IT1 HGNC:41431 +HGNC:49404 ERICD E2F1-regulated inhibitor of cell death non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 "TCONS_00014875|ERIC" LINC01130 "long intergenic non-protein coding RNA 1130|E2F1-regulated inhibitor of cell death (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-10-25 2013-11-18 2018-05-16 2018-05-16 104355217 ENSG00000280303 OTTHUMG00000164249 BX099671 NR_170171 24168400 eric +HGNC:27234 ERICH1 glutamate rich 1 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 glutamate-rich 1 2005-09-01 2015-11-05 2015-11-05 157697 ENSG00000104714 OTTHUMG00000129163 uc064jwr.1 NM_207332 CCDS5955 Q86X53 MGI:3588201 RGD:1559872 HGNC:27234 "ENST00000262109.8|NM_207332.3" +HGNC:44395 ERICH2 glutamate rich 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 glutamate-rich 2 2012-09-25 2015-11-05 2015-11-05 285141 ENSG00000204334 OTTHUMG00000154074 uc002ugg.4 "BC127676|BC150546" NM_001289947 CCDS77486 A1L162 MGI:1913998 RGD:1563852 HGNC:44395 +HGNC:55686 ERICH2-DT ERICH2 divergent transcript non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Divergent transcripts 1990 2021-07-05 2021-07-05 101926913 ENSG00000234350 NR_110185 +HGNC:25346 ERICH3 glutamate rich 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "DKFZp547I048|RP11-653A5.1" C1orf173 "chromosome 1 open reading frame 173|glutamate-rich 3" 2005-07-21 2014-02-19 2015-11-05 2015-11-05 127254 ENSG00000178965 OTTHUMG00000009622 AL834414 NM_001002912 CCDS30755 Q5RHP9 12477932 MGI:1919095 RGD:1593279 HGNC:25346 "ENST00000326665.10|NM_001002912.5" +HGNC:41093 ERICH3-AS1 ERICH3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Antisense RNAs 1987 2014-02-19 2014-11-19 101927320 ENSG00000234497 OTTHUMG00000037896 BX092187 NR_121670 ERICH3-AS1 HGNC:41093 +HGNC:34497 ERICH4 glutamate rich 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 LOC100170765 C19orf69 "chromosome 19 open reading frame 69|glutamate-rich 4" 2008-08-06 2014-02-19 2015-11-05 2015-11-05 100170765 ENSG00000204978 OTTHUMG00000187130 NM_001130514 CCDS46085 A6NGS2 MGI:3646269 RGD:1583255 HGNC:34497 "ENST00000378187.3|NM_001130514.3" +HGNC:26823 ERICH5 glutamate rich 5 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 FLJ39553 C8orf47 "chromosome 8 open reading frame 47|glutamate-rich 5" 2005-08-04 2014-02-19 2015-11-05 2015-11-05 203111 ENSG00000177459 OTTHUMG00000164819 AK096872 NM_173549 "CCDS55266|CCDS34929" Q6P6B1 12477932 MGI:2447772 RGD:1590540 HGNC:26823 "ENST00000318528.8|NM_173549.3" +HGNC:28602 ERICH6 glutamate rich 6 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "MGC39662|ERICH6A" glutamate-rich 6A "C3orf44|FAM194A" "chromosome 3 open reading frame 44|family with sequence similarity 194, member A|glutamate-rich 6" 2006-01-13 2014-03-19 2015-11-05 2015-11-05 131831 ENSG00000163645 OTTHUMG00000133569 AK093375 NM_152394 "CCDS3151|CCDS77840" Q7L0X2 MGI:3588212 RGD:1559451 HGNC:28602 "ENST00000295910.11|NM_152394.5" +HGNC:41205 ERICH6-AS1 ERICH6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Antisense RNAs 1987 2014-03-19 2014-11-19 101928085 ENSG00000240137 OTTHUMG00000159845 "AI146376|AA262424" NR_121674 ERICH6-AS1 HGNC:41205 +HGNC:26523 ERICH6B glutamate rich 6B protein-coding gene gene with protein product Approved 13q14.13 13q14.13 FLJ32682 FAM194B "family with sequence similarity 194, member B|glutamate-rich 6B" 2009-09-08 2014-03-19 2015-11-05 2015-11-05 220081 ENSG00000165837 OTTHUMG00000016856 NM_182542 CCDS45045 Q5W0A0 MGI:1922522 RGD:6491099 HGNC:26523 "ENST00000298738.3|NM_182542.3" +HGNC:25222 ERLEC1 endoplasmic reticulum lectin 1 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 "CL25084|XTP3TPB|XTP3-B|ERLECTIN" erlectin 1 C2orf30 chromosome 2 open reading frame 30 MRH domain containing 1233 2004-06-01 2009-08-26 2009-08-26 2016-10-05 27248 ENSG00000068912 OTTHUMG00000129281 uc002rxl.4 AF131849 NM_015701 "CCDS46283|CCDS1848|CCDS46284" Q96DZ1 "9110174|8619474|16531414|18264092" MGI:1914003 RGD:1306508 611229 HGNC:25222 "ENST00000185150.9|NM_015701.5" +HGNC:38012 ERLEC1P1 endoplasmic reticulum lectin 1 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 2010-03-19 2014-11-18 100288870 ENSG00000240755 OTTHUMG00000155493 NG_022985 PGOHUM00000239144 HGNC:38012 +HGNC:16947 ERLIN1 ER lipid raft associated 1 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "KE04|Erlin-1|SPG62" Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9 "C10orf69|SPFH1" "chromosome 10 open reading frame 69|SPFH domain family, member 1" Small nucleolar RNA protein coding host genes 1835 2004-02-05 2007-01-26 2007-01-26 2021-05-26 10613 ENSG00000107566 OTTHUMG00000018900 uc001kqn.5 AF064093 NM_006459 CCDS7487 O75477 "11118313|16835267|24482476" MGI:2387613 RGD:1307058 611604 403322 HGNC:16947 "ENST00000421367.7|NM_006459.4" HGNC:16947 +HGNC:1356 ERLIN2 ER lipid raft associated 2 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "NET32|Erlin-2" "C8orf2|SPFH2|SPG18" "chromosome 8 open reading frame 2|SPFH domain family, member 2|spastic paraplegia 18 (autosomal dominant)" 1998-12-03 2007-01-26 2007-01-26 2021-05-26 11160 ENSG00000147475 OTTHUMG00000164005 uc003xke.5 AY358108 NM_007175 "CCDS34879|CCDS6095" O94905 "10449903|15897872|16835267|21796390" MGI:2387215 RGD:1309010 LRG_1040|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1040.xml 611605 280390 HGNC:1356 "ENST00000519638.3|NM_007175.8" HGNC:1356 +HGNC:41109 ERLNC1 estrogen receptor responsive lncRNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 "TC0101441|ElncRNA1" oestrogen-induced long non-coding RNA-1 Long non-coding RNAs with non-systematic symbols 1992 2017-08-30 2017-08-30 101929441 ENSG00000230550 OTTHUMG00000036062 NR_123739 "24380700|28714515" HGNC:41109 +HGNC:15743 ERMAP erythroblast membrane associated protein (Scianna blood group) protein-coding gene gene with protein product Approved 1p34.2 01p34.2 BTN5 "RD|SC" "Radin blood group|Scianna blood group|erythroblast membrane-associated protein|erythroblast membrane-associated protein (RD and SC blood groups)|erythroblast membrane-associated protein (Scianna blood group)" "Blood group antigens|Butyrophilins|V-set domain containing" "454|458|590" 2001-09-06 2016-01-20 2021-04-13 114625 ENSG00000164010 OTTHUMG00000007619 uc001cic.2 AF311284 NM_018538 CCDS475 Q96PL5 11549310 MGI:1349816 RGD:1309996 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_806|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_806.xml" 609017 HGNC:15743 "ENST00000372517.8|NM_001017922.2" +HGNC:21056 ERMARD ER membrane associated RNA degradation protein-coding gene gene with protein product Approved 6q27 06q27 "FLJ11152|dJ266L20.3" C6orf70 chromosome 6 open reading frame 70 2003-11-26 2013-08-28 2016-06-01 2016-06-01 55780 ENSG00000130023 OTTHUMG00000016067 AK002014 NM_018341 "CCDS64573|CCDS64574|CCDS64572|CCDS34576" Q5T6L9 23768067 MGI:1917317 RGD:1309374 615532 370330 HGNC:21056 "ENST00000366773.8|NM_018341.3" HGNC:21056 +HGNC:29208 ERMN ermin protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "JN|ERMIN" juxtanodin KIAA1189 "KIAA1189|ermin, ERM-like protein" 2004-03-29 2008-01-15 2015-11-05 2016-10-05 57471 ENSG00000136541 OTTHUMG00000153843 uc002tzh.4 AB033015 NM_001009959 "CCDS42764|CCDS46431|CCDS77475" Q8TAM6 "16051705|16421295" MGI:1925017 RGD:1308367 610072 HGNC:29208 "ENST00000410096.6|NM_020711.3" +HGNC:23703 ERMP1 endoplasmic reticulum metallopeptidase 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "FLJ23309|FXNA" Felix-ina KIAA1815 KIAA1815 M28 metallopeptidases 1444 2003-12-02 2007-07-05 2007-07-05 2016-10-05 79956 ENSG00000099219 OTTHUMG00000019508 uc003zjm.2 AB058718 NM_024896 CCDS34983 Q7Z2K6 11347906 MGI:106250 RGD:727831 611156 M28.018 HGNC:23703 "ENST00000339450.10|NM_024896.3" +HGNC:3449 ERN1 endoplasmic reticulum to nucleus signaling 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "IRE1|IRE1P" "inositol-requiring enzyme 1|Serine/threonine-protein kinase/endoribonuclease IRE1" ER to nucleus signalling 1 Endoribonucleases 1687 1998-08-06 2007-08-14 2020-11-17 2081 ENSG00000178607 OTTHUMG00000178879 uc002jdz.3 AF059198 NM_001433 CCDS45762 O75460 9637683 MGI:1930134 RGD:1559716 604033 objectId:2020 "3.1.26.-|2.7.11.1" HGNC:3449 "ENST00000433197.4|NM_001433.5" +HGNC:16942 ERN2 endoplasmic reticulum to nucleus signaling 2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 IRE1b ER to nucleus signalling 2 2003-01-27 2007-08-14 2020-01-21 10595 ENSG00000134398 OTTHUMG00000177020 uc284nvp.1 AA527544 NM_001308220 "CCDS76845|CCDS32407" Q76MJ5 "9755171|11175748" MGI:1349436 RGD:1308743 604034 objectId:2021 HGNC:16942 "ENST00000256797.9|NM_033266.4" +HGNC:13280 ERO1A endoplasmic reticulum oxidoreductase 1 alpha protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "ERO1-alpha|Ero1alpha" ERO1L "ERO1 (S. cerevisiae)-like|ERO1-like (S. cerevisiae)" 2001-12-12 2015-06-19 2016-07-01 2016-07-01 30001 ENSG00000197930 OTTHUMG00000140301 AF081886 NM_014584 CCDS9709 Q96HE7 10671517 MGI:1354385 RGD:621713 615435 HGNC:13280 "ENST00000395686.8|NM_014584.3" +HGNC:14355 ERO1B endoplasmic reticulum oxidoreductase 1 beta protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "ERO1-L(beta)|Ero1beta" ERO1LB ERO1-like beta (S. cerevisiae) 2003-02-25 2015-06-19 2016-07-01 2016-10-05 56605 ENSG00000086619 OTTHUMG00000039955 AF252538 NM_019891 CCDS31064 Q86YB8 "10818100|21091435" MGI:1914725 RGD:1563548 615437 HGNC:14355 "ENST00000354619.10|NM_019891.4" +HGNC:26495 ERP27 endoplasmic reticulum protein 27 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "FLJ32115|PDIA8" protein disulfide isomerase family A, member 8 C12orf46 "chromosome 12 open reading frame 46|endoplasmic reticulum protein 27 kDa" Protein disulfide isomerases 692 2006-01-23 2007-03-26 2009-02-23 2020-05-04 121506 ENSG00000139055 OTTHUMG00000168741 uc001rco.4 AK056677 NM_152321 "CCDS8670|CCDS73450" Q96DN0 "12975309|16940051" MGI:1916437 RGD:1565381 610642 HGNC:26495 "ENST00000266397.7|NM_152321.4" +HGNC:13799 ERP29 endoplasmic reticulum protein 29 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "ERp28|ERp31|PDI-DB|PDIA9" protein disulfide isomerase family A, member 9 C12orf8 chromosome 12 open reading frame 8 Protein disulfide isomerases 692 2001-04-27 2005-10-05 2005-10-05 2020-05-04 10961 ENSG00000089248 OTTHUMG00000169637 uc001ttk.2 X94910 NM_001034025 "CCDS9158|CCDS44977" P30040 "9738895|9037184" MGI:1914647 RGD:619781 602287 HGNC:13799 "ENST00000261735.4|NM_006817.4" +HGNC:24625 ERP29P1 endoplasmic reticulum lumenal protein 29 pseudogene 1 pseudogene pseudogene Approved 20q13.2 20q13.2 ERP28P 2010-09-29 2020-04-20 100420612 ENSG00000233347 OTTHUMG00000032754 NG_000933 PGOHUM00000247562 HGNC:24625 +HGNC:18311 ERP44 endoplasmic reticulum protein 44 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "KIAA0573|PDIA10" protein disulfide isomerase family A, member 10 TXNDC4 thioredoxin domain containing 4 (endoplasmic reticulum) "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2002-11-11 2009-02-23 2009-02-23 2018-11-15 23071 ENSG00000023318 OTTHUMG00000020363 uc004bam.4 AB011145 NM_015051 CCDS35082 Q9BS26 11847130 MGI:1923549 RGD:1309176 609170 HGNC:18311 "ENST00000262455.7|NM_015051.3" +HGNC:18185 ERRFI1 ERBB receptor feedback inhibitor 1 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "MIG-6|GENE-33|RALT" 2005-08-23 2014-11-19 54206 ENSG00000116285 OTTHUMG00000001221 uc001aoz.4 BC025337 NM_018948 CCDS94 Q9UJM3 "10749885|2780291|12226756|11003669" MGI:1921405 RGD:1307599 608069 HGNC:18185 "ENST00000377482.10|NM_018948.4" +HGNC:55646 ERRFI1-DT ERRFI1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 Divergent transcripts 1990 2021-06-28 2021-06-28 2021-06-28 121832806 ENSG00000238290 XR_007065452 +HGNC:3454 ERV3-1 endogenous retrovirus group 3 member 1, envelope protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "H-PLK|HERV-R|ERV-R|envR" ERV3 "endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)|endogenous retroviral sequence 3|endogenous retrovirus group 3, member 1|endogenous retrovirus group 3 member 1" Envelope ERV derived genes 1412 1986-01-01 2011-05-05 2017-03-30 2017-12-06 2086 ENSG00000213462 OTTHUMG00000165023 uc011kdr.3 AK295189 NM_001007253 CCDS47595 Q14264 "2115127|6495650|21542922" 131170 HGNC:3454 "ENST00000394323.3|NM_001007253.4" +HGNC:22218 ERV3-2 endogenous retrovirus group 3 member 2 other endogenous retrovirus Approved 7q33 07q33 KIAA1466 endogenous retrovirus group 3, member 2 2011-05-05 2015-12-16 2017-12-06 57612 "AB040899|AL833192" 21542922 +HGNC:39060 ERV9-1 endogenous retrovirus group 9 member 1 other endogenous retrovirus Approved 11q13.2 11q13.2 pTR2 endogenous retrovirus group 9, member 1 2011-05-05 2015-12-16 2017-12-06 100616497 "X15673|X15675|X57147" "2475853|16029331|21542922" +HGNC:41524 ERV18-1 endogenous retrovirus group 18 member 1 other endogenous retrovirus Approved 15q21.3 15q21.3 endogenous retrovirus group 18, member 1 2011-05-05 2015-12-16 2017-12-06 100133791 AK126787 21542922 +HGNC:14602 ERVE-1 endogenous retrovirus group E member 1 other endogenous retrovirus Approved 17q11.2 17q11.2 "HERV-E1|HERVE1|TCONS_00025599" ERVE1 "endogenous retroviral sequence E, 1|endogenous retrovirus group E, member 1" 2001-06-04 2011-05-05 2015-12-16 2017-12-06 85314 ENSG00000267259 "AB062274|BC037342|FM212572" "11721880|11401426|21542922" 606601 +HGNC:39048 ERVE-2 endogenous retrovirus group E member 2 other endogenous retrovirus Approved 11q13.2 11q13.2 endogenous retrovirus group E, member 2 2011-05-05 2015-12-16 2015-12-16 100862691 FM212575 "18929381|21542922" +HGNC:39049 ERVE-3 endogenous retrovirus group E member 3 other endogenous retrovirus Approved 8p23.1 08p23.1 endogenous retrovirus group E, member 3 2011-05-05 2015-12-16 2015-12-16 100862700 FM212573 "18929381|21542922" +HGNC:39050 ERVE-4 endogenous retrovirus group E member 4 other endogenous retrovirus Approved 6q15 06q15 CT-RCC HERV-E endogenous retrovirus group E, member 4 2011-05-05 2015-12-16 2015-12-16 100616105 "EU137846|JQ733905" "18292810|21542922" +HGNC:38137 ERVFC1-1 endogenous retrovirus group FC1 member 1, envelope other endogenous retrovirus Approved 7q36.2 07q36.2 "FLJ42291|envF(c)2|TCONS_l2_00027524" HERV-F(c)2_7q36.2 provirus ancestral Env polyprotein "endogenous retrovirus group FC1, member 1|endogenous retrovirus group FC1 member 1" Envelope ERV derived genes 1412 2011-05-05 2017-03-30 2017-03-30 346547 AK124285 P60608 "12970426|21542922" +HGNC:39047 ERVFH21-1 endogenous retrovirus group FH21 member 1 other endogenous retrovirus Approved 7p21.3 07p21.3 HERV-F(XA34) endogenous retrovirus group FH21, member 1 2011-05-05 2015-12-16 2015-12-16 100616104 AK023847 "15533715|21542922" +HGNC:33823 ERVFRD-1 endogenous retrovirus group FRD member 1, envelope protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "HERV-W/FRD|HERV-FRD|envFRD|ERVFRDE1|syncytin-2" syncytin 2 "endogenous retrovirus group FRD, member 1|endogenous retrovirus group FRD member 1" 2011-05-05 2017-03-30 2021-01-26 405754 ENSG00000244476 OTTHUMG00000159193 uc003mzt.4 "AK075092|AK123938|AY358244" NM_207582 CCDS4519 P60508 "12970426|14557543|15476554|21542922" "MGI:2684898|MGI:3045308" RGD:1563240 610524 HGNC:33823 "ENST00000472091.2|NM_207582.3" +HGNC:35201 ERVFRD-2 endogenous retrovirus group FRD member 2 other endogenous retrovirus Approved 19q13.41 19q13.41 FLJ45949 endogenous retrovirus group FRD, member 2 2011-05-05 2015-12-16 2020-01-22 107985332 AK127846 21542922 +HGNC:49792 ERVFRD-3 endogenous retrovirus group FRD member 3 other endogenous retrovirus Approved 9p21.3 09p21.3 endogenous retrovirus group FRD, member 3 2014-02-19 2015-12-16 2017-12-06 100533725 ENSG00000264801 OTTHUMG00000179358 AK091174 HGNC:49792 +HGNC:39053 ERVH-1 endogenous retrovirus group H member 1 other endogenous retrovirus Approved 4p15.2 04p15.2 HERV-H4p15.2 endogenous retrovirus group H, member 1 2011-05-05 2015-12-16 2017-12-06 100616446 ENSG00000251292 OTTHUMG00000160276 uc032tej.2 "EU669866|BC015108" "21542922|24681886" +HGNC:39054 ERVH-2 endogenous retrovirus group H member 2 other endogenous retrovirus Approved Xp22.32 Xp22.32 HERV-HX endogenous retrovirus group H, member 2 2011-05-05 2015-12-16 2015-12-16 100616461 "EU195218|EU195219" "19289097|21542922" +HGNC:39055 ERVH-3 endogenous retrovirus group H member 3 other endogenous retrovirus Approved 6q12 06q12 "HERV-H/F|TCONS_l2_00025412" endogenous retrovirus group H, member 3 2011-05-05 2015-12-16 2015-12-16 100289683 "AJ431196|BC021996" "12482668|21542922" +HGNC:21344 ERVH-4 endogenous retrovirus group H member 4 other endogenous retrovirus Approved 14q32.2 14q32.2 HERV-HD1 clone c4.2 endogenous retrovirus group H, member 4 2011-05-05 2015-12-16 2015-12-16 51359 "U88895|U35031" "9349478|21542922" +HGNC:39057 ERVH-5 endogenous retrovirus group H member 5 other endogenous retrovirus Approved 10p12.1 10p12.1 clone c14.6 endogenous retrovirus group H, member 5 2011-05-05 2015-12-16 2015-12-16 100862699 U35033 "9349478|21542922" +HGNC:39058 ERVH-6 endogenous retrovirus group H member 6 other endogenous retrovirus Approved Yq11.223 Yq11.223 endogenous retrovirus group H, member 6 2011-05-05 2015-12-16 2015-12-16 51581 U88898 "9349478|21542922" +HGNC:39059 ERVH-7 endogenous retrovirus group H member 7 other endogenous retrovirus Approved 14q32.12 14q32.12 TCONS_00022381 endogenous retrovirus group H, member 7 2011-05-05 2015-12-16 2015-12-16 100862698 "BC039675|T67812" "9349478|21542922" +HGNC:53421 ERVH-8 endogenous retrovirus group H member 8, envelope other endogenous retrovirus Approved 2q24.3 02q24.3 envH1 Envelope ERV derived genes 1412 2017-03-30 2017-03-30 AJ289709 12970426 +HGNC:53422 ERVH-9 endogenous retrovirus group H member 9, envelope other endogenous retrovirus Approved 3q26.1 03q26.1 envH2 Envelope ERV derived genes 1412 2017-03-30 2017-03-30 AJ289710 "11162811|12970426" +HGNC:53423 ERVH-10 endogenous retrovirus group H member 10, envelope other endogenous retrovirus Approved 2q24.1 02q24.1 "envH3|envH/p59" Envelope ERV derived genes 1412 2017-03-30 2017-03-30 AJ289711 "11162811|12970426" +HGNC:17216 ERVH48-1 endogenous retrovirus group 48 member 1 other endogenous retrovirus Approved 21q22.3 21q22.3 SUPYN suppressyn "C21orf105|NDUFV3-AS1" "chromosome 21 open reading frame 105|NDUFV3 antisense RNA 1 (non-protein coding)|endogenous retrovirus group 48, member 1" 2003-10-01 2011-05-05 2015-12-16 2020-09-09 90625 ENSG00000233056 OTTHUMG00000086835 uc002zco.4 "BC005107|CR591419" NM_001308491 M5A8F1 "21542922|23492904" HGNC:17216 "ENST00000447535.2|NM_001308491.2" +HGNC:39052 ERVI-1 endogenous retrovirus group I member 1 other endogenous retrovirus Approved 9q22.1 09q22.1 endogenous retrovirus group I, member 1 2011-05-05 2015-12-16 2015-12-16 100131068 "AK124340|AK124077" 21542922 +HGNC:39000 ERVK-1 endogenous retrovirus group K member 1 other endogenous retrovirus Approved 1p31.1 01p31.1 c1_A endogenous retrovirus group K, member 1 2011-05-05 2015-12-16 2015-12-16 100862690 "FN806826|BQ304053" "18664271|15476554|21542922" +HGNC:39001 ERVK-2 endogenous retrovirus group K member 2 other endogenous retrovirus Approved 3p25.3 03p25.3 c3_A endogenous retrovirus group K, member 2 2011-05-05 2015-12-16 2015-12-16 100616100 "DQ112099|FN806829|EF153331" "18664271|21542922" +HGNC:39002 ERVK-3 endogenous retrovirus group K member 3 other endogenous retrovirus Approved 3q13.2 03q13.2 c3_B endogenous retrovirus group K, member 3 2011-05-05 2015-12-16 2015-12-16 100862689 FN806830 "18664271|21542922" +HGNC:13756 ERVK-4 endogenous retrovirus group K member 4 other endogenous retrovirus Approved 3q21.2 03q21.2 HERV-K(I) ERVK4 "endogenous retroviral sequence K (G1), 4|endogenous retrovirus group K, member 4" 2000-10-31 2011-05-05 2015-12-16 2015-12-16 60359 AB047209 "11401426|21542922" 614011 +HGNC:13757 ERVK-5 endogenous retrovirus group K member 5 other endogenous retrovirus Approved 3q12.3 03q12.3 HERV-K(II) ERVK5 "endogenous retroviral sequence K (G2), 5|endogenous retrovirus group K, member 5" 2000-10-31 2011-05-05 2015-12-16 2015-12-16 60358 AB047240 "P61583|Q9HDB8|Q9HDB9" "11401426|21542922" 614012 +HGNC:13915 ERVK-6 endogenous retrovirus group K member 6, envelope other endogenous retrovirus Approved 7p22 07p22 "HERV-K(HML-2.HOM)|HERV-K108|HERV-K(C7)|envK2" "HERV-K (HML-2.HOM)|HERV-K108 envelope protein|HERV-K(C7) envelope protein|HERV-K_7p22.1 provirus ancestral Env polyprotein|HERV-K_7p22.1 provirus ancestral Pol protein|HERV-K_7p22.1 provirus Rec protein|HERV-K_7p22.1 provirus ancestral Pro protein" ERVK6 "endogenous retroviral sequence K, 6|endogenous retrovirus group K, member 6|endogenous retrovirus group K member 6" 2000-11-29 2011-05-05 2017-03-30 2017-03-30 64006 AF074086 NM_001007236 "Q69383|Q69384|Q7LDI9|Q9BXR3|Q9Y6I0" "10080172|11401447|21542922" MGI:3645649 605626 +HGNC:31828 ERVK-7 endogenous retrovirus group K member 7 other endogenous retrovirus Approved 1q22 01q22 "HERV-K(III)|HERV-K102" "HERV-K_1q22 provirus ancestral Gag polyprotein|HERV-K_1q22 provirus ancestral Env polyprotein|HERV-K_1q22 provirus Np9 protein|HERV-K_1q22 provirus ancestral Pol protein|HERV-K_1q22 provirus ancestral Pro protein" ERVK7 "endogenous retroviral sequence K, 7 (type 2)|endogenous retrovirus group K, member 7" 2004-10-07 2011-05-05 2015-12-16 2015-12-16 449619 BC092439 "P61567|P61582|P63130|P63131|P63135" "10469592|11401426|21542922" 614013 +HGNC:32302 ERVK-8 endogenous retrovirus group K member 8, envelope other endogenous retrovirus Approved 8p23.1 08p23.1 "HERV-K115|envK6" "HERV-K_8p23.1 provirus ancestral Env polyprotein|HERV-K_8p23.1 provirus ancestral Gag polyprotein|HERV-K_8p23.1 provirus ancestral Pol protein|HERV-K_8p23.1 provirus Rec protein|HERV-K_8p23.1 provirus ancestral Pro protein" ERVK8 "endogenous retroviral sequence K, 8|Endogenous retrovirus group K, member 8|endogenous retrovirus group K, member 8|endogenous retrovirus group K member 8" Envelope ERV derived genes 1412 2005-10-06 2011-05-05 2017-03-30 2017-03-30 619465 "FN806840|AY037929" "P61575|P62685|P63122|P63133|Q902F8" "17077319|21542922" +HGNC:39005 ERVK-9 endogenous retrovirus group K member 9 other endogenous retrovirus Approved 6q14.1 06q14.1 "HERV-K_6q14.1 provirus ancestral Env polyprotein|HERV-K_6q14.1 provirus ancestral Gag polyprotein|HERV-K_6q14.1 provirus ancestral Gag-Pol polyprotein|HERV-K_6q14.1 provirus ancestral Pro protein" endogenous retrovirus group K, member 9 2011-05-05 2015-12-16 2015-12-16 100616102 "FN806836|AF080234|AY371030" "P61573|P63126|P63127|P63128|Q9UKH3" "9971820|18664271|21542922" +HGNC:39004 ERVK-10 endogenous retrovirus group K member 10 other endogenous retrovirus Approved 5q33.3 05q33.3 "HERV-K_5q33.3 provirus ancestral Gag polyprotein|HERV-K_5q33.3 provirus Np9 protein|HERV-K_5q33.3 provirus ancestral Pol protein|HERV-K_5q33.3 provirus ancestral Pro protein" endogenous retrovirus group K, member 10 2011-05-05 2015-12-16 2015-12-16 100616101 "FN806835|CF227253|CN345079|AF164613" "P10265|P10266|P61580|P87889" "18664271|15476554|21542922" +HGNC:39006 ERVK-11 endogenous retrovirus group K member 11 other endogenous retrovirus Approved 3q27.2 03q27.2 "c3_E|N8.4" HERV-K_3q27.3 provirus ancestral Pol protein endogenous retrovirus group K, member 11 2011-05-05 2015-12-16 2015-12-16 100862688 "FN806833|EF153348|AF080229|U87590" Q9UQG0 "18664271|9971820|21542922" +HGNC:39007 ERVK-12 endogenous retrovirus group K member 12 other endogenous retrovirus Approved 4q32.3 04q32.3 endogenous retrovirus group K, member 12 2011-05-05 2015-12-16 2015-12-16 100616442 "FN806834|EF153341|DQ112093" "18664271|21542922" +HGNC:39008 ERVK-13 endogenous retrovirus group K member 13 other endogenous retrovirus Approved 3q24 03q24 c3_D endogenous retrovirus group K, member 13 2011-05-05 2015-12-16 2015-12-16 100861467 FN806832 "18664271|21542922" +HGNC:39019 ERVK-14 endogenous retrovirus group K member 14 other endogenous retrovirus Approved 7q22.1 07q22.1 c7_B endogenous retrovirus group K, member 14 2011-05-05 2015-12-16 2015-12-16 100862687 FN806838 "18664271|21542922" +HGNC:39022 ERVK-15 endogenous retrovirus group K member 15 other endogenous retrovirus Approved 7q34 07q34 "c7_C|P1.10" endogenous retrovirus group K, member 15 2011-05-05 2015-12-16 2015-12-16 100616443 "FN806839|U87594" "18664271|21542922" +HGNC:39023 ERVK-16 endogenous retrovirus group K member 16 other endogenous retrovirus Approved 10p14 10p14 "c10_A.|M3.8" HERV-K_10p14 provirus Rec protein endogenous retrovirus group K, member 16 2011-05-05 2015-12-16 2015-12-16 100616411 "FN806841|EF543114|U87587|DQ112100" P61578 21542922 +HGNC:39024 ERVK-17 endogenous retrovirus group K member 17 other endogenous retrovirus Approved 10q24.2 10q24.2 c10_B endogenous retrovirus group K, member 17 2011-05-05 2015-12-16 2020-09-03 100862686 FN806842 "18664271|21542922" +HGNC:39025 ERVK-18 endogenous retrovirus group K member 18 other endogenous retrovirus Approved 1q23.3 01q23.3 "c1_C|HERV-K18" "HERV-K_1q23.3 provirus ancestral Env polyprotein|endogenous retrovirus K-18|IDDMK1,2-22|HERV-K_1q23.3 provirus ancestral Pol protein|HERV-K_1q23.3 provirus ancestral Pro protein" endogenous retrovirus group K, member 18 2011-05-05 2015-12-16 2015-12-16 100775105 "FN806828|AF012336" "O42043|P63123|Q9QC07" "18664271|10516026|21542922" +HGNC:39026 ERVK-19 endogenous retrovirus group K member 19, envelope other endogenous retrovirus Approved 19q11 19q11 "P1.8|HERV-K(C19)|envK3" "HERV-K_19q11 provirus ancestral Env polyprotein|HERV-K_19q11 provirus ancestral Pol protein|HERV-K_19q11 provirus ancestral Gag polyprotein|HERV-K_19q12 provirus ancestral Pro protein" "endogenous retrovirus group K, member 19|endogenous retrovirus group K member 19" Envelope ERV derived genes 1412 2011-05-05 2017-03-30 2017-03-30 105376906 "U87593|AY395519" "O71037|P61572|P63120|Q9WJR5|Q9YNA8" "9460924|10516026|12970426|21542922" +HGNC:39031 ERVK-20 endogenous retrovirus group K member 20 other endogenous retrovirus Approved 11q23.3 11q23.3 c11_B endogenous retrovirus group K, member 20 2011-05-05 2015-12-16 2015-12-16 100616444 "FN806844|DQ112095" "18664271|21542922" +HGNC:39035 ERVK-21 endogenous retrovirus group K member 21, envelope other endogenous retrovirus Approved 12q14.1 12q14.1 "c12_A|envK1" "HERV-K_12q14.1 provirus ancestral Env polyprotein|HERV-K_12q14.1 provirus ancestral Gag polyprotein|HERV-K_12q14.1 provirus ancestral Pro protein|HERV-K_12q14.1 provirus Rec protein" "endogenous retrovirus group K, member 21|endogenous retrovirus group K member 21" Envelope ERV derived genes 1412 2011-05-05 2017-03-30 2017-03-30 100616103 "FN806845|U32496" "P61565|P61571|P62683|P63119" "18664271|12970426|21542922" +HGNC:39036 ERVK-22 endogenous retrovirus group K member 22 other endogenous retrovirus Approved 19p13.3 19p13.3 c19_A endogenous retrovirus group K, member 22 2011-05-05 2015-12-16 2015-12-16 100616445 "FN806846|EF153351" "18664271|21542922" +HGNC:39037 ERVK-23 endogenous retrovirus group K member 23 other endogenous retrovirus Approved 21q21.1 21q21.1 c21_A endogenous retrovirus group K, member 23 2011-05-05 2015-12-16 2015-12-16 100616197 "FN806847|EF543113" "18664271|21542922" +HGNC:39038 ERVK-24 endogenous retrovirus group K member 24 other endogenous retrovirus Approved 22q11.21 22q11.21 "c22_A|HERV-K101" "HERV-K_22q11.21 provirus ancestral Env polyprotein|HERV-K_22q11.21 provirus ancestral Gag polyprotein|HERV-K_22q11.21 provirus Np9 protein|HERV-K_22q11.21 provirus ancestral Pro protein" endogenous retrovirus group K, member 24 2011-05-05 2015-12-16 2015-12-16 100862684 "FN806848|AU124350" "P61566|P61581|P63129|P63145" "10469592|18664271|21542922" +HGNC:39039 ERVK-25 endogenous retrovirus group K member 25 other endogenous retrovirus Approved 11q22.1 11q22.1 c11_A "HERV-K_11q22.1 provirus ancestral Env polyprotein|HERV-K_11q22.1 provirus ancestral Pol protein|HERV-K_11q22.1 provirus Rec protein|HERV-K_11q22.1 provirus ancestral Pro protein" endogenous retrovirus group K, member 25 2011-05-05 2015-12-16 2015-12-16 100862683 "FN806843|CF227268|AW818206" "P61570|P61579|P63125|P63136" "18664271|21542922" +HGNC:44979 ERVK-26 endogenous retrovirus group K member 26 other endogenous retrovirus Approved 8p23.1 08p23.1 endogenous retrovirus group K, member 26 2014-01-03 2015-12-16 2015-12-16 103539957 JZ164910 23338945 +HGNC:44980 ERVK-27 endogenous retrovirus group K member 27 other endogenous retrovirus Approved 11q12.3 11q12.3 endogenous retrovirus group K, member 27 2014-01-03 2015-12-16 2015-12-16 106144566 JZ164909 23338945 +HGNC:44981 ERVK-28 endogenous retrovirus group K member 28 other endogenous retrovirus Approved 19q11 19q11 endogenous retrovirus group K, member 28 2014-01-03 2015-12-16 2015-12-16 106707175 ENSG00000267696 OTTHUMG00000180737 JZ164911 23338945 +HGNC:44982 ERVK-29 endogenous retrovirus group K member 29 other endogenous retrovirus Approved 19q13.12 19q13.12 endogenous retrovirus group K, member 29 2014-01-03 2015-12-16 2015-12-16 106144555 JZ164912 23338945 +HGNC:51378 ERVK-30 endogenous retrovirus group K member 30 other endogenous retrovirus Approved 2q32.1 02q32.1 endogenous retrovirus group K, member 30 2015-05-14 2015-12-16 2015-12-16 106144591 LN624403 25750667 +HGNC:51379 ERVK-31 endogenous retrovirus group K member 31 other endogenous retrovirus Approved 5q15 05q15 endogenous retrovirus group K, member 31 2015-05-14 2015-12-16 2015-12-16 106144590 LN624404 25750667 +HGNC:53424 ERVK-32 endogenous retrovirus group K member 32, envelope other endogenous retrovirus Approved 6q14.1 06q14.1 "envK4|HERV-K109" Envelope ERV derived genes 1412 2017-03-30 2017-03-30 2017-03-30 110006328 AF164615 12970426 +HGNC:30466 ERVK3-1 endogenous retrovirus group K3 member 1 other endogenous retrovirus Approved 19q13.43 19q13.43 HERV-K(HML6-1) endogenous retrovirus group K3, member 1 2011-05-05 2015-12-16 2020-04-20 105372481 ENSG00000142396 OTTHUMG00000150367 uc061drc.2 "AK054868|BC010118|BC011670" NM_001396080 "15533715|21542922" HGNC:30466 +HGNC:39040 ERVK3-2 endogenous retrovirus group K3 member 2 other endogenous retrovirus Approved 14q24.2 14q24.2 HML6-c14 endogenous retrovirus group K3, member 2 2011-05-05 2015-12-16 2015-12-16 100862697 "AK027828|AK096726|CR591084" "15533715|21542922" +HGNC:39108 ERVK3-3 endogenous retrovirus group K3 member 3 other endogenous retrovirus Approved 5q13.2 05q13.2 HML6-c5 endogenous retrovirus group K3, member 3 2011-05-05 2015-12-16 2015-12-16 100616462 FR714893 "18077721|21542922" +HGNC:39109 ERVK3-4 endogenous retrovirus group K3 member 4 other endogenous retrovirus Approved 11p15.4 11p15.4 HML6-c11 endogenous retrovirus group K3, member 4 2011-05-05 2015-12-16 2015-12-16 100616106 FR714894 "18077721|21542922" +HGNC:39110 ERVK3-5 endogenous retrovirus group K3 member 5 other endogenous retrovirus Approved 12q24.12 12q24.12 HML6-c12 endogenous retrovirus group K3, member 5 2011-05-05 2015-12-16 2015-12-16 100616412 FR714895 "18077721|21542922" +HGNC:39111 ERVK3-6 endogenous retrovirus group K3 member 6 other endogenous retrovirus Approved 19q13.41 19q13.41 HML6-c19A endogenous retrovirus group K3, member 6 2011-05-05 2015-12-16 2015-12-16 100616107 FR714896 "18077721|21542922" +HGNC:39112 ERVK3-7 endogenous retrovirus group K3 member 7 other endogenous retrovirus Approved 19p13.2 19p13.2 HML6-c19B endogenous retrovirus group K3, member 7 2011-05-05 2015-12-16 2015-12-16 100616199 FR714897 "18077721|21542922" +HGNC:39113 ERVK3-8 endogenous retrovirus group K3 member 8 other endogenous retrovirus Approved 20p11.21 20p11.21 endogenous retrovirus group K3, member 8 2011-05-05 2015-12-16 2015-12-16 100616108 FR714898 "18077721|21542922" +HGNC:50898 ERVK9-1 endogenous retrovirus group K9, member 1 other endogenous retrovirus Approved 1q21.2 01q21.2 HERV-K(HML-3) K102B 2017-08-03 2017-08-03 111188150 LM994684 25886562 +HGNC:50908 ERVK9-2 endogenous retrovirus group K9, member 2 other endogenous retrovirus Approved 2p24.1 02p24.1 HERV-K(HML-3) K22C 2017-08-03 2017-08-03 111188149 LM994685 25886562 +HGNC:50909 ERVK9-3 endogenous retrovirus group K9, member 3 other endogenous retrovirus Approved 3q27.2 03q27.2 HERV-K(HML-3) K26C 2017-08-03 2017-08-03 111188148 LM994687 25886562 +HGNC:50910 ERVK9-4 endogenous retrovirus group K9, member 4 other endogenous retrovirus Approved 5p13.2 05p13.2 HERV-K(HML-3) K83B 2017-08-03 2017-08-03 111188143 LM994688 25886562 +HGNC:51154 ERVK9-5 endogenous retrovirus group K9, member 5 other endogenous retrovirus Approved 5p15.33 05p15.33 HERV-K(HML-3) K104B 2017-08-03 2017-08-03 111188147 LM994689 25886562 +HGNC:51155 ERVK9-6 endogenous retrovirus group K9, member 6 other endogenous retrovirus Approved 6q21 06q21 HERV-K(HML-3) K58B 2017-08-03 2017-08-03 111188146 LM994690 25886562 +HGNC:51156 ERVK9-7 endogenous retrovirus group K9, member 7 other endogenous retrovirus Approved 7p14.2 07p14.2 HERV-K(HML-3) K103B 2017-08-03 2017-08-03 111188142 LM994691 25886562 +HGNC:51157 ERVK9-8 endogenous retrovirus group K9, member 8 other endogenous retrovirus Approved 8q11.23 08q11.23 HERV-K(HML-3) K49B 2017-08-03 2017-08-03 111188145 LM994692 25886562 +HGNC:51158 ERVK9-9 endogenous retrovirus group K9, member 9 other endogenous retrovirus Approved 17p13.2 17p13.2 TCONS_00025543 HERV-K(HML-3) K18B 2017-08-03 2017-08-03 111188137 LM994693 25886562 +HGNC:51159 ERVK9-10 endogenous retrovirus group K9, member 10 other endogenous retrovirus Approved 17q21.32 17q21.32 HERV-K(HML-3) K114B 2017-08-03 2017-08-03 111188144 LM994694 25886562 +HGNC:51160 ERVK9-11 endogenous retrovirus group K9, member 11 other endogenous retrovirus Approved 19q13.2 19q13.2 HERV-K(HML-3) K79B 2017-08-03 2017-08-03 111188141 ENSG00000269486 OTTHUMG00000182717 LM994695 25886562 +HGNC:53627 ERVK9-12 endogenous retrovirus group K9, member 12 other endogenous retrovirus Approved 6p22.1 06p22.1 2017-08-03 2018-08-03 105375011 BQ446675 HGNC:53627 +HGNC:43647 ERVK11-1 endogenous retrovirus group K11 member 1 other endogenous retrovirus Approved 1p13.3 01p13.3 HERV-K_1p13.3 provirus ancestral Env polyprotein endogenous retrovirus group K11, member 1 2011-12-15 2015-12-16 2015-12-16 100859922 "AK126628|AK128832" P61568 +HGNC:27548 ERVK13-1 endogenous retrovirus group K13 member 1 other endogenous retrovirus Approved 16p13.3 16p13.3 HERV-K_16p3.3 provirus ancestral Env polyprotein endogenous retrovirus group K13, member 1 2011-10-25 2015-12-16 2020-01-06 100507321 ENSG00000260565 NR_040023 Q9NX77 HGNC:27548 +HGNC:42970 ERVMER34-1 endogenous retrovirus group MER34 member 1, envelope protein-coding gene gene with protein product Approved 4q12 04q12 envMER34 "HERV-MER_4q12 provirus ancestral Env polyprotein|endogenous retrovirus group MER34 member 1 Env polyprotein" "endogenous retrovirus group MER34, member 1|endogenous retrovirus group MER34 member 1" Envelope ERV derived genes 1412 2011-09-12 2017-03-30 2017-12-06 100288413 ENSG00000226887 OTTHUMG00000150366 uc003gzs.4 NM_024534 Q9H9K5 HGNC:42970 "ENST00000443173.6|NM_001242690.2" +HGNC:27919 ERVMER61-1 endogenous retrovirus group MER61 member 1 other endogenous retrovirus Approved 1q31.1 01q31.1 C1orf99 "chromosome 1 open reading frame 99|endogenous retrovirus group MER61, member 1" 2005-05-31 2011-05-05 2015-12-16 2020-01-24 339476 OTTHUMG00000035624 uc001gsd.4 BC040856 21542922 +HGNC:39042 ERVPABLB-1 endogenous retrovirus group PABLB member 1, envelope other endogenous retrovirus Approved 3p24.3 03p24.3 envR(b) HERV-R(b)_3p24.3 provirus ancestral Env polyprotein "endogenous retrovirus group PABLB, member 1|endogenous retrovirus group PABLB member 1" Envelope ERV derived genes 1412 2011-05-05 2017-03-30 2017-03-30 100862693 "BQ012865|CF529244|AI189490" P60509 "12970426|21542922" +HGNC:41525 ERVS71-1 endogenous retrovirus group S71 member 1, envelope other endogenous retrovirus Approved 19p12 19p12 envT "HERV-T_19 provirus ancestral Env polyprotein|HERV-T Env protein" "endogenous retrovirus group S71, member 1|endogenous retrovirus group S71 member 1" Envelope ERV derived genes 1412 2011-05-05 2017-03-30 2020-01-22 105372315 "CN288807|BQ932595|BQ941761" P61550 "16150157|12970426|21542922" +HGNC:41526 ERVS71-2 endogenous retrovirus group S71 member 2 other endogenous retrovirus Approved 10p11.1 10p11.1 HERV-HC2 endogenous retrovirus group S71, member 2 2011-05-05 2015-12-16 2015-12-16 100616200 "AB167270|AB167277" "17277898|21542922" +HGNC:26501 ERVV-1 endogenous retrovirus group V member 1, envelope protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "FLJ32214|HERV-V1|ENVV1" "endogenous retrovirus group V, member 1|endogenous retrovirus group V member 1" Envelope ERV derived genes 1412 2011-05-05 2017-03-30 2017-12-06 147664 ENSG00000269526 OTTHUMG00000182942 uc002qap.4 "AK056776|BC104018|BC104019" NM_152473 CCDS59419 B6SEH8 "18826608|21542922" HGNC:26501 "ENST00000602168.2|NM_152473.3" +HGNC:39051 ERVV-2 endogenous retrovirus group V member 2, envelope protein-coding gene gene with protein product Approved 19q13.41 19q13.41 ENVV2 "endogenous retrovirus group V, member 2|endogenous retrovirus group V member 2" Envelope ERV derived genes 1412 2011-05-05 2017-03-30 2017-12-06 100271846 ENSG00000268964 OTTHUMG00000182943 uc021uzd.2 "AI434519|CA417098|DA863698" NM_001191055 CCDS59420 B6SEH9 "18826608|21542922" RGD:9302596 HGNC:39051 "ENST00000601417.3|NM_001191055.2" +HGNC:13525 ERVW-1 endogenous retrovirus group W member 1, envelope protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "HERV-W|HERV-W-ENV|HERVW|HERV-7q|envW" "envelope protein|HERV-W Env glycoprotein|enverin|syncytin-1|HERV-tryptophan envelope protein|HERV-W{7q21.1} provirus ancestral Env polyprotein|HERV-7q envelope protein|envelope glycoprotein|syncytin" ERVWE1 "endogenous retroviral family W, env(C7), member 1|endogenous retrovirus group W, member 1|endogenous retrovirus group W member 1" 2000-09-20 2011-05-05 2017-03-30 2017-12-06 30816 ENSG00000242950 OTTHUMG00000131249 uc022ahe.2 AF208161 NM_014590 CCDS5626 Q9UQF0 "9835022|9882319|21542922" "MGI:2684898|MGI:3045308" 604659 objectId:3182 HGNC:13525 "ENST00000603053.2|NM_001130925.2" +HGNC:37653 ERVW-2 endogenous retrovirus group W member 2 other endogenous retrovirus Approved Xq22.3 Xq22.3 NTrenv ERVWE2 "endogenous retroviral family W, env, member 2|endogenous retrovirus group W, member 2" 2009-12-16 2011-05-05 2015-12-16 2015-12-16 100379323 "AF331500|FN689795" "19368703|21542922" +HGNC:39041 ERVW-3 endogenous retrovirus group W member 3 other endogenous retrovirus Approved 3q23 03q23 CL4 endogenous retrovirus group W, member 3 2011-05-05 2015-12-16 2015-12-16 100862696 AF127227 "10405350|21542922" +HGNC:39043 ERVW-4 endogenous retrovirus group W member 4 other endogenous retrovirus Approved 15q21.3 15q21.3 C187-23 endogenous retrovirus group W, member 4 2011-05-05 2015-12-16 2015-12-16 100616496 "AF123882|EF539878" "19368703|10405350|20005155|21542922" +HGNC:39044 ERVW-5 endogenous retrovirus group W member 5 other endogenous retrovirus Approved 3q26.32 03q26.32 CL2 endogenous retrovirus group W, member 5 2011-05-05 2015-12-16 2015-12-16 100862695 AF123881 "10405350|21542922" +HGNC:39045 ERVW-6 endogenous retrovirus group W member 6 other endogenous retrovirus Approved 11q14.1 11q14.1 endogenous retrovirus group W, member 6 2011-05-05 2015-12-16 2015-12-16 100616198 "AK022306|AB063619" "17559415|21542922" +HGNC:49246 ERVW-7 endogenous retrovirus group W member 7 other endogenous retrovirus Approved 1p33 01p33 endogenous retrovirus group W, member 7 2013-10-21 2015-12-16 2015-12-16 106144589 HG421043 +HGNC:49247 ERVW-8 endogenous retrovirus group W member 8 other endogenous retrovirus Approved 1p22.2 01p22.2 endogenous retrovirus group W, member 8 2013-10-21 2015-12-16 2015-12-16 106144559 HG421044 +HGNC:49248 ERVW-9 endogenous retrovirus group W member 9 other endogenous retrovirus Approved 1q25.2 01q25.2 endogenous retrovirus group W, member 9 2013-10-21 2015-12-16 2015-12-16 106699568 HG421045 +HGNC:49249 ERVW-10 endogenous retrovirus group W member 10 other endogenous retrovirus Approved 1q32.1 01q32.1 endogenous retrovirus group W, member 10 2013-10-21 2015-12-16 2015-12-16 106144579 HG421046 +HGNC:49250 ERVW-11 endogenous retrovirus group W member 11 other endogenous retrovirus Approved 1q42.13 01q42.13 endogenous retrovirus group W, member 11 2013-10-21 2015-12-16 2015-12-16 106144560 HG421047 +HGNC:49251 ERVW-12 endogenous retrovirus group W member 12 other endogenous retrovirus Approved 2p16.2 02p16.2 endogenous retrovirus group W, member 12 2013-10-21 2015-12-16 2015-12-16 106144580 HG421048 +HGNC:49252 ERVW-13 endogenous retrovirus group W member 13 other endogenous retrovirus Approved 2q13 02q13 endogenous retrovirus group W, member 13 2013-10-21 2015-12-16 2015-12-16 106144576 HG421049 +HGNC:49253 ERVW-14 endogenous retrovirus group W member 14 other endogenous retrovirus Approved 2q31.2 02q31.2 endogenous retrovirus group W, member 14 2013-10-21 2015-12-16 2015-12-16 106144561 HG421050 +HGNC:49254 ERVW-15 endogenous retrovirus group W member 15 other endogenous retrovirus Approved 4p16.1 04p16.1 endogenous retrovirus group W, member 15 2013-10-21 2015-12-16 2015-12-16 106144597 HG421053 +HGNC:49255 ERVW-16 endogenous retrovirus group W member 16 other endogenous retrovirus Approved 4q28.3 04q28.3 endogenous retrovirus group W, member 16 2013-10-21 2015-12-16 2015-12-16 106144581 HG421054 +HGNC:49256 ERVW-17 endogenous retrovirus group W member 17 other endogenous retrovirus Approved 6q21 06q21 endogenous retrovirus group W, member 17 2013-10-21 2015-12-16 2015-12-16 106144567 HG421036 +HGNC:49306 ERVW-18 endogenous retrovirus group W member 18 other endogenous retrovirus Approved 6q24.2 06q24.2 endogenous retrovirus group W, member 18 2013-10-21 2015-12-16 2015-12-16 106144562 HG421056 +HGNC:49307 ERVW-19 endogenous retrovirus group W member 19 other endogenous retrovirus Approved 6q27 06q27 endogenous retrovirus group W, member 19 2013-10-21 2015-12-16 2015-12-16 106144571 HG421057 +HGNC:49308 ERVW-20 endogenous retrovirus group W member 20 other endogenous retrovirus Approved 8q21.11 08q21.11 endogenous retrovirus group W, member 20 2013-10-21 2015-12-16 2015-12-16 106144604 HG421059 +HGNC:49309 ERVW-21 endogenous retrovirus group W member 21 other endogenous retrovirus Approved 8q21.13 08q21.13 endogenous retrovirus group W, member 21 2013-10-21 2015-12-16 2015-12-16 106144587 HG421060 +HGNC:49310 ERVW-22 endogenous retrovirus group W member 22 other endogenous retrovirus Approved 9p13.3 09p13.3 endogenous retrovirus group W, member 22 2013-10-21 2015-12-16 2015-12-16 106144563 HG421061 +HGNC:49311 ERVW-23 endogenous retrovirus group W member 23 other endogenous retrovirus Approved 12p13.31 12p13.31 endogenous retrovirus group W, member 23 2013-10-21 2015-12-16 2015-12-16 106144603 HG421062 +HGNC:49312 ERVW-24 endogenous retrovirus group W member 24 other endogenous retrovirus Approved 12q13.13 12q13.13 endogenous retrovirus group W, member 24 2013-10-21 2015-12-16 2015-12-16 106144564 HG421038 +HGNC:49313 ERVW-25 endogenous retrovirus group W member 25 other endogenous retrovirus Approved 13q13.3 13q13.3 endogenous retrovirus group W, member 25 2013-10-21 2015-12-16 2015-12-16 106144605 HG421063 +HGNC:49314 ERVW-26 endogenous retrovirus group W member 26 other endogenous retrovirus Approved 14q21.3 14q21.3 endogenous retrovirus group W, member 26 2013-10-21 2015-12-16 2015-12-16 106144572 HG421039 +HGNC:49315 ERVW-27 endogenous retrovirus group W member 27 other endogenous retrovirus Approved 14q32.12 14q32.12 endogenous retrovirus group W, member 27 2013-10-21 2015-12-16 2015-12-16 106144565 HG421064 +HGNC:49316 ERVW-28 endogenous retrovirus group W member 28 other endogenous retrovirus Approved 17q12b 17q12b endogenous retrovirus group W, member 28 2013-10-21 2015-12-16 2015-12-16 105694156 HG421041 +HGNC:49378 ERVW-29 endogenous retrovirus group W member 29 other endogenous retrovirus Approved 18p11.21 18p11.21 endogenous retrovirus group W, member 29 2013-10-21 2015-12-16 2015-12-16 106144583 HG421066 +HGNC:3462 ESA4 esterase A4 other unknown Approved 11q13-q22 11q13-q22 2001-06-22 2019-06-20 2090 "6946513|6604488" 133220 3.1.1.1 +HGNC:17474 ESAM endothelial cell adhesion molecule protein-coding gene gene with protein product Approved 11q24.2 11q24.2 W117m "V-set domain containing|IgCAM CXADR-related subfamily" "590|1414" 2003-11-26 2015-09-11 90952 ENSG00000149564 OTTHUMG00000151986 uc001qav.5 AK075396 NM_138961 CCDS8453 Q96AP7 "11279107|11906820" MGI:1916774 RGD:1303286 614281 HGNC:17474 "ENST00000278927.10|NM_138961.3" +HGNC:55558 ESAM-AS1 ESAM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 Antisense RNAs 1987 2021-04-07 2021-04-07 101929340 ENSG00000250073 NR_120577 +HGNC:3463 ESAT esterase activator other unknown Approved 14 14 2001-06-22 2013-03-15 2096 4508320 +HGNC:3464 ESB3 esterase B3 other unknown Approved 16 16 2001-06-22 2013-07-10 2097 3481956 133290 3.1.1.1 +HGNC:24645 ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "ESO1|EFO1|KIAA1911" establishment of cohesion 1 homolog 1 (S. cerevisiae) Lysine acetyltransferases 486 2005-01-04 2013-05-02 2013-05-02 114799 ENSG00000141446 OTTHUMG00000178919 uc002kth.2 AL832041 NM_052911 CCDS32800 Q5FWF5 "11572484|14576321|15958495" MGI:1925055 RGD:1596873 609674 470296 HGNC:24645 "ENST00000269214.10|NM_052911.3" +HGNC:27230 ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 EFO2 RBS "Roberts syndrome|establishment of cohesion 1 homolog 2 (S. cerevisiae)" Lysine acetyltransferases 486 2005-01-04 2013-05-02 2021-05-26 157570 ENSG00000171320 OTTHUMG00000163901 uc003xgg.4 AF306679 NM_001017420 CCDS34872 Q56NI9 "15958495|16775838|15821733|16380922" MGI:1919238 RGD:1593313 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ESCO2 609353 121610 HGNC:27230 "ENST00000305188.13|NM_001017420.3" HGNC:27230 +HGNC:3465 ESD esterase D protein-coding gene gene with protein product Approved 13q14.2 13q14.2 S-formylglutathione hydrolase esterase D/formylglutathione hydrolase 2001-06-22 2010-05-07 2016-10-05 2098 ENSG00000139684 OTTHUMG00000016878 uc001vbn.3 M13450 NM_001984 CCDS9404 P10768 MGI:95421 RGD:1592114 133280 S09.990 3.1.2.12 HGNC:3465 "ENST00000378720.8|NM_001984.2" +HGNC:15898 ESF1 ESF1 nucleolar pre-rRNA processing protein homolog protein-coding gene gene with protein product Approved 20p12.1 20p12.1 bA526K24.1 C20orf6 "chromosome 20 open reading frame 6|ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)" SSU processome 1484 2001-06-21 2006-11-13 2015-07-02 2015-08-25 51575 ENSG00000089048 OTTHUMG00000031906 uc002woj.3 NM_016649 CCDS13117 Q9H501 MGI:1913830 RGD:1306067 618765 HGNC:15898 "ENST00000617257.2|NM_001276380.2" +HGNC:3466 ESM1 endothelial cell specific molecule 1 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 endothelial cell-specific molecule 1 2000-01-07 2016-01-21 2016-10-05 11082 ENSG00000164283 OTTHUMG00000097010 uc003jpk.4 X89426 NM_007036 "CCDS3963|CCDS47206" Q9NQ30 8702785 MGI:1918940 RGD:71013 601521 HGNC:3466 "ENST00000381405.5|NM_007036.5" +HGNC:16856 ESPL1 extra spindle pole bodies like 1, separase protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "KIAA0165|ESP1|SEPA" "separin|separase|separin, cysteine protease" "extra spindle poles like 1 (S. cerevisiae)|extra spindle pole bodies homolog 1 (S. cerevisiae)" 2002-01-03 2015-07-02 2015-08-25 9700 ENSG00000135476 OTTHUMG00000169674 uc001sck.2 D79987 NM_012291 CCDS8852 Q14674 "8724849|16258266" MGI:2146156 RGD:1306266 604143 C50.002 3.4.22.49 HGNC:16856 "ENST00000257934.9|NM_012291.5" +HGNC:13281 ESPN espin protein-coding gene gene with protein product Approved 1p36.31 01p36.31 DFNB36 deafness, autosomal recessive 36 Ankyrin repeat domain containing 403 2001-12-05 2021-05-26 83715 ENSG00000187017 OTTHUMG00000000753 uc001amy.3 AF134401 NM_031475 CCDS70 B1AK53 "10975527|15286153" MGI:1861630 RGD:620652 LRG_1281|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1281.xml 606351 160240 HGNC:13281 "ENST00000645284.1|NM_031475.3" HGNC:13281 +HGNC:27937 ESPNL espin like protein-coding gene gene with protein product Approved 2q37.3 02q37.3 FLJ42568 Ankyrin repeat domain containing 403 2006-08-24 2017-06-13 2017-06-13 339768 ENSG00000144488 OTTHUMG00000133335 uc002vxq.5 AK124559 NM_194312 "CCDS2525|CCDS77547" Q6ZVH7 "12975309|26926603" MGI:2685402 RGD:1562432 HGNC:27937 "ENST00000343063.8|NM_194312.4" +HGNC:23285 ESPNP espin pseudogene pseudogene pseudogene Approved 1p36.13 01p36.13 2005-07-07 2014-11-19 284729 ENSG00000268869 OTTHUMG00000000803 AL035288 NR_026567 15286153 PGOHUM00000256862 HGNC:23285 +HGNC:3467 ESR1 estrogen receptor 1 protein-coding gene gene with protein product Approved 6q25.1-q25.2 06q25.1-q25.2 "NR3A1|Era|ER-alpha" "nuclear receptor subfamily 3 group A member 1|estrogen receptor alpha|oestrogen receptor alpha|E2 receptor alpha" ESR Estrogen receptors 2077 2001-06-22 2021-04-13 2099 ENSG00000091831 OTTHUMG00000016103 uc003qom.5 X03635 NM_000125 "CCDS5234|CCDS87457" P03372 3754034 MGI:1352467 RGD:2581 LRG_992|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_992.xml ESR1 133430 121614 objectId:620 HGNC:3467 "ENST00000206249.8|NM_000125.4" HGNC:3467 +HGNC:3468 ESR2 estrogen receptor 2 protein-coding gene gene with protein product Approved 14q23.2-q23.3 14q23.2-q23.3 "NR3A2|Erb|ER-beta" "ER beta|estrogen receptor beta|oestrogen receptor beta|nuclear receptor subfamily 3 group A member 2" estrogen receptor 2 (ER beta) Estrogen receptors 2077 1997-01-17 2016-03-18 2018-02-13 2100 ENSG00000140009 OTTHUMG00000141306 uc001xha.2 X99101 NM_001040275 "CCDS55920|CCDS9762|CCDS61470|CCDS61469|CCDS32096" Q92731 8769313 MGI:109392 RGD:2582 601663 474419 objectId:621 HGNC:3468 "ENST00000341099.6|NM_001437.3" HGNC:3468 +HGNC:39079 ESRG embryonic stem cell related non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 HESRG human embryonic stem cell related gene embryonic stem cell related (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2011-10-10 2018-05-16 2018-05-16 790952 ENSG00000265992 OTTHUMG00000179678 uc003dhj.4 NR_027122 Q1W209 "17803967|21861197" 611473 ESRG HGNC:39079 +HGNC:25966 ESRP1 epithelial splicing regulatory protein 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 FLJ20171 RBM35A RNA binding motif protein 35A RNA binding motif containing 725 2005-09-22 2009-03-10 2009-03-10 2019-02-20 54845 ENSG00000104413 OTTHUMG00000164587 uc003ygq.5 AK000178 NM_017697 "CCDS47895|CCDS47897|CCDS87620|CCDS47898|CCDS47896" Q6NXG1 "19285943|25143390" MGI:1917326 RGD:1560481 612959 HGNC:25966 "ENST00000433389.8|NM_017697.4" HGNC:25966 +HGNC:26152 ESRP2 epithelial splicing regulatory protein 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ21918 RBM35B RNA binding motif protein 35B "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2005-09-22 2009-03-10 2009-03-10 2019-02-20 80004 ENSG00000103067 OTTHUMG00000137557 uc002evq.2 AK025571 NM_024939 CCDS10863 Q9H6T0 "19285943|25143390" MGI:1924661 RGD:1310855 612960 HGNC:26152 "ENST00000473183.7|NM_024939.3" +HGNC:3471 ESRRA estrogen related receptor alpha protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ERR1|ERRalpha|NR3B1|ERRa" ESRL1 Estrogen related receptors 2078 1997-04-25 2016-01-14 2016-10-05 2101 ENSG00000173153 OTTHUMG00000150641 uc001nzq.3 "X51416|L38487" NM_004451 "CCDS41667|CCDS60830" P11474 3267207 MGI:1346831 RGD:1583866 601998 objectId:622 HGNC:3471 "ENST00000000442.11|NM_004451.5" +HGNC:3472 ESRRAP1 estrogen-related receptor alpha pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 ESRRAP estrogen-related receptor alpha pseudogene 1997-10-21 2008-02-01 2008-02-01 2016-10-05 144847 ENSG00000215572 OTTHUMG00000016495 AL359457 NG_001009 "9344655|18065488" PGOHUM00000248311 HGNC:3472 +HGNC:24647 ESRRAP2 estrogen-related receptor alpha pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 ESTRRA 2007-07-27 2011-03-15 144832 ENSG00000235438 OTTHUMG00000016534 U85258 NR_000033 "9344655|3267207|18065488" PGOHUM00000248516 HGNC:24647 +HGNC:3473 ESRRB estrogen related receptor beta protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "ERR2|ERRbeta|NR3B2|ERRb" "ESRL2|DFNB35" deafness, autosomal recessive 35 Estrogen related receptors 2078 1997-04-25 2016-01-14 2021-05-26 2103 ENSG00000119715 OTTHUMG00000160457 uc001xsq.2 X51417 NM_001379180 CCDS9850 O95718 "3267207|9344655|18179891" MGI:1346832 RGD:1359557 602167 160244 objectId:623 HGNC:3473 "ENST00000644823.1|NM_001379180.1" HGNC:3473 +HGNC:3474 ESRRG estrogen related receptor gamma protein-coding gene gene with protein product Approved 1q41 01q41 "NR3B3|ERRg|ERR-gamma" Estrogen related receptors 2078 1998-02-17 2016-01-14 2018-02-14 2104 ENSG00000196482 OTTHUMG00000037025 uc001hld.2 AF058291 NM_206595 "CCDS1517|CCDS58061|CCDS41468|CCDS58060" P62508 "9676434|10072763" MGI:1347056 RGD:1303236 602969 objectId:624 HGNC:3474 "ENST00000408911.8|NM_001438.4" +HGNC:16817 ESS2 ess-2 splicing factor homolog protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "DGSI|Es2el|ES2|DGS-H|ESS-2|bis1" "DGCR13|DGCR14" "DiGeorge syndrome critical region gene 13|DiGeorge syndrome critical region gene 14" Spliceosomal P complex 1516 2002-10-30 2017-05-31 2017-05-31 2019-09-04 8220 ENSG00000100056 OTTHUMG00000150119 uc002zou.4 L77566 NM_022719 CCDS13756 Q96DF8 "8776594|9063747|11991638|25194163|25368387" MGI:107854 RGD:1308218 601755 HGNC:16817 "ENST00000252137.11|NM_022719.3" +HGNC:14865 ESX1 ESX homeobox 1 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 ESXR1 ESX1L extraembryonic, spermatogenesis, homeobox 1 homolog (mouse) PRD class homeoboxes and pseudogenes 521 2001-03-14 2006-02-08 2007-07-11 2020-04-02 80712 ENSG00000123576 OTTHUMG00000022125 uc004ely.4 AL049631 NM_153448 CCDS14516 Q8N693 "11374906|17242862" MGI:1096388 RGD:1590738 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ESX1 300154 8531 HGNC:14865 "ENST00000372588.4|NM_153448.4" +HGNC:29534 ESYT1 extended synaptotagmin 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "MBC2|KIAA0747" FAM62A "family with sequence similarity 62 (C2 domain containing), member A|extended synaptotagmin-like protein 1" Extended synaptotagmins 827 2005-04-21 2009-06-23 2016-06-08 2016-06-08 23344 ENSG00000139641 OTTHUMG00000170197 uc001sjq.4 AK074368 NM_015292 "CCDS53801|CCDS8904" Q9BSJ8 "9872452|10350628|17672888" MGI:1344426 RGD:3053 616670 HGNC:29534 "ENST00000394048.10|NM_015292.3" +HGNC:22211 ESYT2 extended synaptotagmin 2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "KIAA1228|CHR2SYT" FAM62B "family with sequence similarity 62 (C2 domain containing), member B|extended synaptotagmin-like protein 2" Extended synaptotagmins 827 2005-04-21 2009-06-23 2016-06-08 2016-06-08 57488 ENSG00000117868 OTTHUMG00000151436 uc003wob.2 AB033054 NM_020728 CCDS34791 A0FGR8 17672888 MGI:1261845 RGD:1565705 616691 HGNC:22211 "ENST00000275418.13|NM_001367773.1" +HGNC:24295 ESYT3 extended synaptotagmin 3 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 CHR3SYT FAM62C "family with sequence similarity 62 (C2 domain containing), member C|extended synaptotagmin-like protein 3" Extended synaptotagmins 827 2005-04-21 2009-06-23 2016-06-08 2016-06-08 83850 ENSG00000158220 OTTHUMG00000147354 uc003esk.4 AJ303366 NM_031913 CCDS3101 A0FGR9 "11543631|17672888" MGI:1098699 RGD:1561304 616692 HGNC:24295 "ENST00000389567.9|NM_031913.5" +HGNC:24648 ETAA1 ETAA1 activator of ATR kinase protein-coding gene gene with protein product Approved 2p14 02p14 ETAA16 "Ewing's tumor-associated antigen 1|ETAA1, ATR kinase activator" 2006-08-14 2019-01-25 2019-01-25 54465 ENSG00000143971 OTTHUMG00000129545 uc002sdz.2 AJ242682 NM_019002 CCDS1882 Q9NY74 "16003559|28073021" MGI:1915395 RGD:1587340 613196 HGNC:24648 "ENST00000272342.6|NM_019002.4" +HGNC:53449 ETDA embryonic testis differentiation homolog A protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 2017-04-19 2019-03-06 101928677 ENSG00000238210 OTTHUMG00000022476 NM_001355522 CCDS87782 Q3ZM63 MGI:1916751 HGNC:53449 "ENST00000427686.3|NM_001355522.1" +HGNC:44269 ETDB embryonic testis differentiation homolog B protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 LINC00633 long intergenic non-protein coding RNA 633 2012-08-02 2017-04-19 2017-04-19 2021-10-06 100129515 ENSG00000224107 OTTHUMG00000022469 uc004eyi.5 "AI015085|AY730280" NM_001355519 CCDS87781 P0DPP9 MGI:1916751 HGNC:44269 "ENST00000423661.1|NM_001355519.1" +HGNC:53450 ETDC embryonic testis differentiation homolog C protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 2017-04-19 2017-12-07 110806299 ENSG00000283644 OTTHUMG00000191754 NM_001358449 CCDS87783 A0A1B0GVM5 MGI:1916751 HGNC:53450 "ENST00000635820.1|NM_001358449.1" +HGNC:3477 ETF1 eukaryotic translation termination factor 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "eRF1|TB3-1|RF1" "sup45 (yeast omnipotent suppressor 45) homolog-like 1|polypeptide chain release factor 1" "SUP45L1|ERF1|ERF" SURF complex 1963 1991-06-13 2014-11-19 2107 ENSG00000120705 OTTHUMG00000129199 uc003ldc.6 AF095901 NM_004730 "CCDS75314|CCDS4207|CCDS75313" P62495 "1546371|7990965" MGI:2385071 RGD:1305712 600285 HGNC:3477 "ENST00000360541.10|NM_004730.4" +HGNC:3478 ETF1P1 eukaryotic translation termination factor 1 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 HCGVII SUP45L2 1999-08-12 2016-10-05 6824 ENSG00000232757 OTTHUMG00000031163 NG_001028 "1546371|10413110" PGOHUM00000301738 HGNC:3478 +HGNC:3479 ETF1P2 eukaryotic translation termination factor 1 pseudogene 2 pseudogene pseudogene Approved 7q36.1 07q36.1 SUP45L3 1999-08-12 2017-10-25 6825 ENSG00000240132 OTTHUMG00000157354 NG_001198 "1546371|10413110" PGOHUM00000303027 HGNC:3479 +HGNC:3480 ETF1P3 eukaryotic translation termination factor 1 pseudogene 3 pseudogene pseudogene Approved Xq12 Xq12 SUP45L4 1999-08-12 2020-04-20 100132121 ENSG00000233833 OTTHUMG00000021725 AF110131 NG_009869 "1546371|10413110" PGOHUM00000241819 HGNC:3480 +HGNC:3481 ETFA electron transfer flavoprotein subunit alpha protein-coding gene gene with protein product Approved 15q24.2-q24.3 15q24.2-q24.3 "GA2|EMA|MADD" glutaric aciduria II electron-transfer-flavoprotein, alpha polypeptide 1986-01-01 2018-04-23 2021-05-26 2108 ENSG00000140374 OTTHUMG00000172586 uc002bbt.3 J04058 NM_000126 "CCDS45311|CCDS32299" P13804 MGI:106092 RGD:628747 608053 121619 HGNC:3481 "ENST00000557943.6|NM_000126.4" HGNC:3481 +HGNC:3482 ETFB electron transfer flavoprotein subunit beta protein-coding gene gene with protein product Approved 19q13.41 19q13.41 electron-transfer-flavoprotein, beta polypeptide 1990-06-11 2018-04-23 2021-05-26 2109 ENSG00000105379 OTTHUMG00000182903 uc002pwh.4 X71129 NM_001014763 "CCDS33085|CCDS12828" P38117 MGI:106098 RGD:1303312 130410 121624 HGNC:3482 "ENST00000309244.9|NM_001985.3" HGNC:3482 +HGNC:28739 ETFBKMT electron transfer flavoprotein subunit beta lysine methyltransferase protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "DKFZp451L235|MGC50559" "C12orf72|METTL20" "chromosome 12 open reading frame 72|methyltransferase like 20" 7BS protein lysine methyltransferases 2056 2008-08-12 2016-01-05 2018-04-23 2021-09-10 254013 ENSG00000139160 OTTHUMG00000169085 uc009zjr.4 BC039535 NM_173802 CCDS8724 Q8IXQ9 "25023281|25416781" MGI:2443575 RGD:735147 615256 HGNC:28739 "ENST00000357721.3|NM_001135863.2" +HGNC:3483 ETFDH electron transfer flavoprotein dehydrogenase protein-coding gene gene with protein product Approved 4q32.1 04q32.1 ETFQO electron-transferring-flavoprotein dehydrogenase 1993-12-13 2016-01-05 2021-05-26 2110 ENSG00000171503 OTTHUMG00000161684 uc003iqb.5 S69232 NM_001281737 "CCDS3800|CCDS64090" Q16134 MGI:106100 RGD:735052 231675 121626 HGNC:3483 "ENST00000511912.6|NM_004453.4" HGNC:3483 +HGNC:27052 ETFRF1 electron transfer flavoprotein regulatory factor 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 LYRM5 LYR motif containing 5 LYR motif containing 635 2006-09-19 2016-08-02 2016-08-02 2016-08-09 144363 ENSG00000205707 OTTHUMG00000171190 uc001rgn.4 AK057730 NM_001001660 CCDS53764 Q6IPR1 27499296 MGI:1914886 RGD:2320673 HGNC:27052 "ENST00000381356.9|NM_001001660.3" +HGNC:23287 ETHE1 ETHE1 persulfide dioxygenase protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "YF13H12|HSCO" ethylmalonic encephalopathy 1 MBL domain containing glyoxalase 2 subfamily 1614 2003-12-15 2019-01-22 2021-05-26 23474 ENSG00000105755 OTTHUMG00000182697 uc002owp.3 NM_014297 CCDS12622 O95571 19136963 MGI:1913321 RGD:1311034 608451 121629 1.13.11.18 HGNC:23287 "ENST00000292147.7|NM_014297.5" HGNC:23287 +HGNC:24649 ETNK1 ethanolamine kinase 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "EKI1|EKI" 2004-07-09 2021-04-13 55500 ENSG00000139163 OTTHUMG00000169008 uc001rft.4 BC006111 NM_018638 "CCDS8698|CCDS41760" Q9HBU6 "11912161|11044454" MGI:1922570 RGD:1308204 LRG_1399|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1399.xml ETNK1 609858 470298 HGNC:24649 "ENST00000266517.9|NM_018638.5" +HGNC:55486 ETNK1-DT ETNK1 divergent transcript non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Divergent transcripts 1990 2021-03-11 2021-03-11 105369691 ENSG00000257023 NR_135030 +HGNC:25575 ETNK2 ethanolamine kinase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ10761|EKI2" 2004-07-09 2019-02-20 55224 ENSG00000143845 OTTHUMG00000036061 uc001hao.5 AK001623 NM_018208 "CCDS1442|CCDS73006" Q9NVF9 16861741 MGI:2443760 RGD:1305304 609859 HGNC:25575 "ENST00000367202.9|NM_018208.4" +HGNC:14404 ETNPPL ethanolamine-phosphate phospho-lyase protein-coding gene gene with protein product Approved 4q25 04q25 AGXT2L1 alanine-glyoxylate aminotransferase 2-like 1 2001-01-19 2013-06-12 2013-06-12 2014-11-19 64850 ENSG00000164089 OTTHUMG00000161036 AJ298293 NM_031279 "CCDS3682|CCDS54793|CCDS82944|CCDS54792" Q8TBG4 "7592550|22241472" MGI:1919010 RGD:1590098 614682 4.2.3.2 HGNC:14404 "ENST00000296486.8|NM_031279.4" +HGNC:3488 ETS1 ETS proto-oncogene 1, transcription factor protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "FLJ10768|ETS-1" "Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1|ets protein" EWSR2 v-ets avian erythroblastosis virus E26 oncogene homolog 1 ETS transcription factor family 534 1986-01-01 2016-02-24 2016-10-05 2113 ENSG00000134954 OTTHUMG00000165799 uc010sbs.2 NM_005238 "CCDS53724|CCDS8475|CCDS81648|CCDS44767" P14921 1522903 MGI:95455 RGD:2583 164720 369352 HGNC:3488 "ENST00000392668.8|NM_001143820.2" HGNC:3488 +HGNC:53932 ETS1-AS1 ETS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 pancEts-1 Ets-1 promoter-associated noncoding RNA Antisense RNAs 1987 2018-07-13 2018-07-13 101929517 ENSG00000254588 OTTHUMG00000165800 NR_120581 29773901 HGNC:53932 +HGNC:3489 ETS2 ETS proto-oncogene 2, transcription factor protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)|v-ets avian erythroblastosis virus E26 oncogene homolog 2" ETS transcription factor family 534 2001-06-22 2016-02-24 2016-10-05 2114 ENSG00000157557 OTTHUMG00000090769 uc002yxf.4 NM_001256295 CCDS13659 P15036 17986575 MGI:95456 RGD:1584977 164740 470300 HGNC:3489 "ENST00000360938.8|NM_005239.6" +HGNC:55136 ETS2P1 ETS2 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 2020-07-08 2020-07-08 100131617 ENSG00000237833 NG_022640 +HGNC:3490 ETV1 ETS variant transcription factor 1 protein-coding gene gene with protein product Approved 7p21.2 07p21.2 ER81 "ets variant gene 1|ETS variant 1" ETS transcription factor family 534 1994-05-02 2019-07-25 2019-07-25 2115 ENSG00000006468 OTTHUMG00000152403 uc021zzs.2 NM_004956 "CCDS55085|CCDS55083|CCDS55087|CCDS55084|CCDS55088|CCDS55086" P50549 1340465 MGI:99254 RGD:1312007 ETV1 600541 121633 HGNC:3490 "ENST00000430479.6|NM_004956.5" +HGNC:3491 ETV2 ETS variant transcription factor 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ER71 "ets variant gene 2|ETS variant 2" ETS transcription factor family 534 1994-05-02 2019-07-25 2019-07-25 2116 ENSG00000105672 OTTHUMG00000150545 uc002oar.2 AF000671 NM_014209 "CCDS77281|CCDS74341|CCDS32995" O00321 1340465 MGI:99253 RGD:1310603 609358 HGNC:3491 "ENST00000402764.6|NM_014209.4" +HGNC:3492 ETV3 ETS variant transcription factor 3 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 PE-1 "ets variant gene 3, ETS family transcriptional repressor|ETS variant 3" ETS transcription factor family 534 1994-12-15 2019-07-25 2019-07-25 2117 ENSG00000117036 OTTHUMG00000034298 uc001fqr.3 BC022868 NM_005240 "CCDS1164|CCDS44250" P41162 8020980 MGI:1350926 RGD:1311577 164873 HGNC:3492 "ENST00000368192.9|NM_001145312.3" +HGNC:33834 ETV3L ETS variant transcription factor 3 like protein-coding gene gene with protein product Approved 1q23.1 01q23.1 FLJ16478 "ets variant gene 3-like|ETS variant 3 like" ETS transcription factor family 534 2007-12-14 2019-07-25 2019-07-25 440695 ENSG00000253831 OTTHUMG00000041325 uc001fqq.3 AK131392 NM_001004341 CCDS30893 Q6ZN32 MGI:3646099 RGD:1562620 HGNC:33834 "ENST00000454449.3|NM_001004341.2" +HGNC:3493 ETV4 ETS variant transcription factor 4 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "E1A-F|E1AF|PEA3" E1A enhancer binding protein "ets variant gene 4 (E1A enhancer-binding protein, E1AF)|ETS variant 4" ETS transcription factor family 534 1995-03-27 2019-07-25 2019-07-25 2118 ENSG00000175832 OTTHUMG00000180884 uc002idx.5 U18018 NM_001986 "CCDS11465|CCDS58553|CCDS59292" P43268 "8530053|1547944" MGI:99423 RGD:1306524 ETV4 600711 235504 HGNC:3493 "ENST00000319349.10|NM_001079675.5" +HGNC:3494 ETV5 ETS variant transcription factor 5 protein-coding gene gene with protein product Approved 3q27.2 03q27.2 ERM ets-related molecule "ets variant gene 5 (ets-related molecule)|ETS variant 5" ETS transcription factor family 534 1996-07-26 2019-07-25 2019-07-25 2119 ENSG00000244405 OTTHUMG00000156639 uc003fpz.4 BC007333 NM_004454 CCDS33906 P41161 8152800 MGI:1096867 RGD:1309590 ETV5 601600 HGNC:3494 "ENST00000306376.10|NM_004454.3" +HGNC:40222 ETV5-AS1 ETV5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.2 03q27.2 ETV5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 100873934 ENSG00000234197 OTTHUMG00000156638 uc062ram.1 ETV5-AS1 +HGNC:3495 ETV6 ETS variant transcription factor 6 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 TEL TEL oncogene "ets variant gene 6 (TEL oncogene)|ETS variant 6" ETS transcription factor family 534 1995-11-28 2019-07-25 2021-05-26 2120 ENSG00000139083 OTTHUMG00000168538 uc001qzz.4 BC043399 NM_001987 CCDS8643 P41212 7731705 MGI:109336 RGD:1559537 LRG_609|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_609.xml ETV6 600618 139165 HGNC:3495 "ENST00000396373.9|NM_001987.5" HGNC:3495 +HGNC:18160 ETV7 ETS variant transcription factor 7 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "TEL2|TEL-2" TEL2 oncogene "ets variant gene 7 (TEL2 oncogene)|ETS variant 7" ETS transcription factor family 534 2003-05-19 2019-07-25 2019-07-25 51513 ENSG00000010030 OTTHUMG00000014594 uc011dtl.3 AF116508 NM_016135 "CCDS75440|CCDS56424|CCDS4819|CCDS75441|CCDS78131|CCDS56422|CCDS56423|CCDS56425" Q9Y603 "10828014|11108721" 605255 HGNC:18160 "ENST00000340181.9|NM_016135.4" +HGNC:40833 ETV7-AS1 ETV7 and PTX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 Antisense RNAs 1987 2019-07-25 2019-07-25 105375037 ENSG00000224666 OTTHUMG00000014592 XR_007059565 HGNC:40833 +HGNC:25816 EVA1A eva-1 homolog A, regulator of programmed cell death protein-coding gene gene with protein product Approved 2p12 02p12 FLJ13391 "TMEM166|FAM176A" "transmembrane protein 166|family with sequence similarity 176, member A|eva-1 homolog A (C. elegans)" 2006-07-26 2012-11-05 2016-02-15 2016-02-15 84141 ENSG00000115363 OTTHUMG00000129991 uc002snk.1 BC016157 NM_032181 CCDS1959 Q9H8M9 "22227058|25363290" MGI:2385247 RGD:1559797 618990 HGNC:25816 "ENST00000393913.8|NM_001135032.2" +HGNC:55283 EVA1A-AS EVA1A antisense RNA non-coding RNA RNA, long non-coding Approved 2p12 02p12 EVA1A-AS1 Antisense RNAs 1987 2020-10-12 2020-10-12 101927884 ENSG00000231172 NR_110281 31754186 +HGNC:25558 EVA1B eva-1 homolog B protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ10647 "C1orf78|FAM176B" "chromosome 1 open reading frame 78|family with sequence similarity 176, member B|eva-1 homolog B (C. elegans)" 2005-05-23 2012-11-05 2016-07-22 2016-07-22 55194 ENSG00000142694 OTTHUMG00000007867 uc001caj.1 AK001509 NM_018166 CCDS406 Q9NVM1 14702039 MGI:1922063 RGD:1308876 HGNC:25558 "ENST00000490466.2|NM_001304762.2" +HGNC:13239 EVA1C eva-1 homolog C protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B18|PRED34|B19" "C21orf64|C21orf63|FAM176C" "chromosome 21 open reading frame 64|chromosome 21 open reading frame 63|family with sequence similarity 176, member C|eva-1 homolog C (C. elegans)" 2000-09-25 2012-11-05 2016-07-22 2016-07-22 59271 ENSG00000166979 OTTHUMG00000064922 uc002ypr.3 AF358258 NM_058187 "CCDS13614|CCDS68186" P58658 "11707072|19470522|24040182" MGI:1918217 RGD:1307569 HGNC:13239 "ENST00000300255.7|NM_058187.5" +HGNC:55735 EVA1CP1 EVA1C pseudogene 1 pseudogene pseudogene Approved 4p16.1 04p16.1 2021-07-19 2021-07-19 100420821 ENSG00000249563 NG_025196 PGOHUM00000300151 +HGNC:55736 EVA1CP2 EVA1C pseudogene 2 pseudogene pseudogene Approved 4p16.3 04p16.3 2021-07-19 2021-07-19 100420818 ENSG00000271977 NG_025077 PGOHUM00000299739 +HGNC:55737 EVA1CP3 EVA1C pseudogene 3 pseudogene pseudogene Approved 7p22.1 07p22.1 2021-07-19 2021-07-19 100420863 ENSG00000243531 NG_026435 PGOHUM00000302036 +HGNC:55738 EVA1CP4 EVA1C pseudogene 4 pseudogene pseudogene Approved 11q13.2 11q13.2 2021-07-19 2021-07-19 100420907 ENSG00000255147 NG_024378 PGOHUM00000290570 +HGNC:55739 EVA1CP5 EVA1C pseudogene 5 pseudogene pseudogene Approved 3p12.3 03p12.3 2021-07-19 2021-07-19 122149298 ENSG00000244699 +HGNC:55740 EVA1CP6 EVA1C pseudogene 6 pseudogene pseudogene Approved 3q22.1 03q22.1 2021-07-19 2021-07-19 122149299 ENSG00000251610 +HGNC:3497 EVC EvC ciliary complex subunit 1 protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "DWF-1|EVC1" "Ellis van Creveld syndrome|Ellis van Creveld protein" 1995-04-24 2016-02-15 2021-04-28 2121 ENSG00000072840 OTTHUMG00000090427 uc003gil.2 AF216184 NM_001306090 "CCDS3383|CCDS77896" P57679 "10700184|24582806" MGI:1890596 RGD:735186 604831 121636 HGNC:3497 "ENST00000264956.11|NM_153717.3" HGNC:3497 +HGNC:19747 EVC2 EvC ciliary complex subunit 2 protein-coding gene gene with protein product Approved 4p16.2 04p16.2 LBN limbin Ellis van Creveld syndrome 2 2003-04-11 2016-02-15 2016-02-15 132884 ENSG00000173040 OTTHUMG00000125493 uc003gij.4 AB083067 NM_147127 "CCDS3382|CCDS54718" Q86UK5 "12136126|12571802|24582806" MGI:1915775 RGD:1310417 607261 121639 HGNC:19747 "ENST00000344408.10|NM_147127.5" HGNC:19747 +HGNC:3499 EVI2A ecotropic viral integration site 2A protein-coding gene gene with protein product Approved 17q11.2 17q11.2 EVDA EVI2 1990-08-03 2008-07-18 2123 ENSG00000126860 OTTHUMG00000159306 uc002hgl.4 M55267 NM_014210 "CCDS32608|CCDS42293" P22794 2117566 MGI:95458 RGD:1593824 158380 HGNC:3499 "ENST00000462804.3|NM_014210.4" +HGNC:3500 EVI2B ecotropic viral integration site 2B protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "D17S376|EVDB|CD361" CD molecules 471 1990-11-07 2014-11-18 2124 ENSG00000185862 OTTHUMG00000132869 uc002hgk.3 NM_006495 CCDS11266 P34910 1903357 MGI:1890682 RGD:6495961 158381 HGNC:3500 "ENST00000330927.5|NM_006495.4" +HGNC:3501 EVI5 ecotropic viral integration site 5 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 NB4S neuroblastoma stage 4S gene 1999-12-07 2016-10-05 7813 ENSG00000067208 OTTHUMG00000010895 uc001dox.3 AF008915 NM_005665 "CCDS30774|CCDS76179" O60447 9618176 MGI:104736 RGD:2322879 602942 HGNC:3501 "ENST00000684568.2|NM_001350197.2" +HGNC:30464 EVI5L ecotropic viral integration site 5 like protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2004-07-30 2016-02-15 2016-02-15 115704 ENSG00000142459 OTTHUMG00000182454 uc002min.4 BC014111 NM_145245 "CCDS12188|CCDS54209" Q96CN4 23669355 MGI:2442167 RGD:1561962 HGNC:30464 "ENST00000538904.7|NM_001159944.3" +HGNC:20234 EVL Enah/Vasp-like protein-coding gene gene with protein product Approved 14q32.2 14q32.2 RNB6 "ENAH/VASPs|MicroRNA protein coding host genes" "946|1691" 2003-01-10 2014-08-13 51466 ENSG00000196405 OTTHUMG00000171530 uc001ygu.4 AF112209 NM_001330221 "CCDS81851|CCDS9955" Q9UI08 "10945997|10993894" MGI:1194884 RGD:621150 616912 HGNC:20234 "ENST00000392920.8|NM_016337.3" +HGNC:3503 EVPL envoplakin protein-coding gene gene with protein product Approved 17q25.1 17q25.1 EVPK Plakins 939 1996-03-12 2015-09-11 2125 ENSG00000167880 OTTHUMG00000180053 uc002jqi.3 U53786 NM_001988 "CCDS82207|CCDS11737" Q92817 "8938451|10409435" MGI:107507 RGD:1306141 601590 HGNC:3503 "ENST00000301607.8|NM_001988.4" HGNC:3503 +HGNC:35236 EVPLL envoplakin like protein-coding gene gene with protein product Approved 17p11.2 17p11.2 Plakins 939 2008-10-24 2016-06-10 2016-06-10 645027 ENSG00000214860 OTTHUMG00000059095 uc002gte.4 NM_001145127 CCDS45626 A8MZ36 HGNC:35236 "ENST00000399134.5|NM_001145127.2" +HGNC:3506 EVX1 even-skipped homeobox 1 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 eve, even-skipped homeobox homolog 1 (Drosophila) HOXL subclass homeoboxes 518 1992-04-06 2007-02-15 2015-08-27 2128 ENSG00000106038 OTTHUMG00000023093 uc003szd.2 NM_001304519 CCDS5413 P49640 1684419 MGI:95461 RGD:11434685 142996 8436 HGNC:3506 "ENST00000496902.7|NM_001989.5" +HGNC:40223 EVX1-AS EVX1 antisense RNA non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 EVX1-AS1 EVX1 antisense RNA 1 (non-protein coding) EVX1 antisense RNA (non-protein coding) Antisense RNAs 1987 2012-05-03 2012-08-15 2014-11-19 101410536 ENSG00000253405 OTTHUMG00000159991 uc064cib.1 "DB455833|DB260732" NR_120507 EVX1-AS HGNC:40223 +HGNC:3507 EVX2 even-skipped homeobox 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 eve, even-skipped homeobox homolog 2 (Drosophila) HOXL subclass homeoboxes 518 1990-09-30 2007-02-15 2015-08-27 344191 ENSG00000174279 OTTHUMG00000154173 uc010zeu.3 NM_001080458 CCDS33333 Q03828 1675198 MGI:95462 RGD:1305594 142991 8437 HGNC:3507 "ENST00000308618.5|NM_001080458.2" +HGNC:26596 EWSAT1 Ewing sarcoma associated transcript 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 FLJ33768 "TMEM84|NCRNA00277|LINC00277" "transmembrane protein 84|non-protein coding RNA 277|long intergenic non-protein coding RNA 277" Long non-coding RNAs with non-systematic symbols 1992 2005-10-25 2014-11-20 2014-11-20 2017-02-16 283673 ENSG00000212766 OTTHUMG00000133319 AK091087 NR_026949 "25401475|27860482|27816050" 616492 EWSAT1 HGNC:26596 +HGNC:3508 EWSR1 EWS RNA binding protein 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 EWS Ewing sarcoma breakpoint region 1 "Zinc fingers RANBP2-type |RNA binding motif containing" "89|725" 1992-11-27 2015-11-05 2016-04-25 2130 ENSG00000182944 OTTHUMG00000151107 uc003aev.4 NM_005243 "CCDS13851|CCDS54514|CCDS54513|CCDS54512|CCDS13852" Q01844 1522903 MGI:99960 RGD:1307258 EWSR1 133450 121642 HGNC:3508 "ENST00000397938.7|NM_005243.4" HGNC:3508 +HGNC:28507 EXD1 exonuclease 3'-5' domain containing 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 MGC33637 EXDL1 exonuclease 3'-5' domain-like 1 2005-10-26 2009-02-24 2009-02-24 2020-03-10 161829 ENSG00000178997 OTTHUMG00000130232 uc001znk.5 BC030628 NM_152596 "CCDS10072|CCDS66738" Q8NHP7 "26669262|30257204" MGI:3045306 RGD:1561009 HGNC:28507 "ENST00000458580.7|NM_001286441.2" +HGNC:20217 EXD2 exonuclease 3'-5' domain containing 2 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 FLJ10738 "C14orf114|EXDL2" "chromosome 14 open reading frame 114|exonuclease 3'-5' domain-like 2" 2003-01-15 2009-02-24 2009-02-24 2020-03-10 55218 ENSG00000081177 OTTHUMG00000154496 uc010tte.2 AK001600 NM_001193360 "CCDS9793|CCDS53902" Q9NVH0 29371705 MGI:1922485 RGD:1311087 616940 HGNC:20217 "ENST00000685843.1|NM_001193360.2" +HGNC:26023 EXD3 exonuclease 3'-5' domain containing 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "LOC54932|FLJ20433|mut-7|Nbr" nibbler homolog 2009-03-04 2020-03-10 54932 ENSG00000187609 OTTHUMG00000156149 uc004cmp.4 NM_017820 "CCDS48066|CCDS75942" Q8N9H8 HGNC:26023 "ENST00000340951.9|NM_017820.5" +HGNC:3511 EXO1 exonuclease 1 protein-coding gene gene with protein product Approved 1q43 01q43 "HEX1|hExoI" rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 Exonucleases 544 1999-07-07 2015-02-02 9156 ENSG00000174371 OTTHUMG00000039965 uc001hzh.4 AF042282 NM_006027 "CCDS1620|CCDS44336" Q9UQ84 "9685493|9788596" MGI:1349427 RGD:1309465 606063 HGNC:3511 "ENST00000366548.8|NM_130398.4" HGNC:3511 +HGNC:26115 EXO5 exonuclease 5 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ21144 "C1orf176|DEM1" "chromosome 1 open reading frame 176|defects in morphology 1 homolog (S. cerevisiae)" Exonucleases 544 2005-07-25 2012-10-30 2012-10-30 2014-11-19 64789 ENSG00000164002 OTTHUMG00000007305 uc001cfp.4 AK024797 NM_022774 CCDS453 Q9H790 23095756 MGI:1920422 RGD:1309802 618601 HGNC:26115 "ENST00000415550.6|NM_001346953.2" +HGNC:55647 EXO5-DT EXO5 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-06-28 2021-06-28 105378672 ENSG00000238287 XR_947234 +HGNC:30380 EXOC1 exocyst complex component 1 protein-coding gene gene with protein product Approved 4q12 04q12 "SEC3|FLJ10893|BM-102|Sec3p" SEC3L1 SEC3-like 1 (S. cerevisiae) Exocyst complex 1055 2004-01-08 2005-11-01 2005-11-01 2015-08-25 55763 ENSG00000090989 OTTHUMG00000102165 uc003hbf.2 AK027047 NM_018261 "CCDS3503|CCDS3502" Q9NV70 "11042152|11406615" MGI:2445020 RGD:1304939 607879 HGNC:30380 "ENST00000381295.7|NM_001024924.2" +HGNC:53433 EXOC1L exocyst complex component 1 like protein-coding gene gene with protein product Approved 4q12 04q12 2017-05-31 2017-05-31 644145 ENSG00000250821 OTTHUMG00000160694 NM_001351574 CCDS87223 A0A1B0GW35 MGI:3647743 RGD:1591303 HGNC:53433 "ENST00000636125.2|NM_001351574.3" +HGNC:24968 EXOC2 exocyst complex component 2 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 "FLJ11026|Sec5p" SEC5L1 SEC5-like 1 (S. cerevisiae) "Exocyst complex|IPT domain containing" "1055|1752" 2004-01-08 2005-11-01 2005-11-01 2014-11-19 55770 ENSG00000112685 OTTHUMG00000137437 uc003mtd.5 AJ420556 NM_018303 CCDS34327 Q96KP1 "12575951|12459492" MGI:1913732 RGD:619961 615329 HGNC:24968 "ENST00000230449.9|NM_018303.6" +HGNC:30378 EXOC3 exocyst complex component 3 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 Sec6p SEC6L1 SEC6-like 1 (S. cerevisiae) Exocyst complex 1055 2004-01-08 2005-11-01 2005-11-01 2015-08-25 11336 ENSG00000180104 OTTHUMG00000162205 uc003jba.4 BC034427 NM_007277 CCDS54830 O60645 8619474 MGI:2443972 RGD:621790 608186 HGNC:30378 "ENST00000512944.6|NM_007277.5" +HGNC:25175 EXOC3-AS1 EXOC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 C5orf55 chromosome 5 open reading frame 55 Antisense RNAs 1987 2009-04-06 2014-12-10 2014-12-10 2014-12-10 116349 ENSG00000221990 OTTHUMG00000162235 BC014011 NR_126522 Q8N2X6 12477932 EXOC3-AS1 HGNC:25175 +HGNC:27540 EXOC3L1 exocyst complex component 3 like 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ35539|FLJ35587" EXOC3L "exocyst complex component 3-like|exocyst complex component 3-like 1" 2006-08-08 2011-01-31 2016-03-17 2019-02-20 283849 ENSG00000179044 OTTHUMG00000137508 uc002erx.1 AK092858 NM_178516 CCDS10832 Q86VI1 26199122 MGI:3041195 RGD:1311132 614117 HGNC:27540 "ENST00000314586.11|NM_178516.4" +HGNC:30162 EXOC3L2 exocyst complex component 3 like 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "FLJ36147|XTP7" Armadillo like helical domain containing 1492 2007-01-19 2016-06-10 2017-05-11 90332 ENSG00000283632 OTTHUMG00000155018 uc002pay.1 AK093466 NM_138568 CCDS12657 Q2M3D2 21566143 MGI:1921713 RGD:1592539 616927 HGNC:30162 "ENST00000413988.3|NM_001382422.1" +HGNC:20120 EXOC3L4 exocyst complex component 3 like 4 protein-coding gene gene with protein product Approved 14q32.32 14q32.32 C14orf73 chromosome 14 open reading frame 73 2003-01-13 2011-01-31 2016-03-11 2018-11-15 91828 ENSG00000205436 OTTHUMG00000171888 uc001ymk.4 AK000671 NM_001077594 CCDS32163 Q17RC7 MGI:1921363 RGD:1307749 HGNC:20120 "ENST00000688303.1|NM_001077594.2" +HGNC:30389 EXOC4 exocyst complex component 4 protein-coding gene gene with protein product Approved 7q33 07q33 "KIAA1699|MGC27170|SEC8|Sec8p" SEC8L1 SEC8-like 1 (S. cerevisiae) "Exocyst complex|MicroRNA protein coding host genes" "1055|1691" 2004-01-08 2005-11-01 2005-11-01 2016-10-05 60412 ENSG00000131558 OTTHUMG00000155259 uc003vrk.4 AL831989 NM_021807 "CCDS5829|CCDS43648" Q96A65 "11214970|12687004" MGI:1096376 RGD:621791 608185 470302 HGNC:30389 "ENST00000253861.5|NM_021807.4" +HGNC:10696 EXOC5 exocyst complex component 5 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "SEC10|SEC10P" SEC10L1 "SEC10 (S. cerevisiae)-like 1|SEC10-like 1 (S. cerevisiae)" Exocyst complex 1055 1999-09-09 2005-11-01 2005-11-01 2015-08-25 10640 ENSG00000070367 OTTHUMG00000171309 uc001xct.4 U85946 NM_006544 CCDS45111 O00471 9119050 MGI:2145645 RGD:708408 604469 HGNC:10696 "ENST00000621441.5|NM_006544.4" +HGNC:43870 EXOC5P1 exocyst complex component 5 pseudogene 1 pseudogene pseudogene Approved 4q13.1 04q13.1 2012-04-04 2012-04-04 644548 ENSG00000180673 OTTHUMG00000160716 NG_022058 PGOHUM00000245929 HGNC:43870 +HGNC:23196 EXOC6 exocyst complex component 6 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "SEC15L|FLJ1125|DKFZp761I2124|MGC33397|Sec15p|EXOC6A" SEC15L1 SEC15-like 1 (S. cerevisiae) Exocyst complex 1055 2003-10-06 2006-11-07 2006-11-07 2015-08-27 54536 ENSG00000138190 OTTHUMG00000018767 uc001kig.4 BC028395 NM_019053 "CCDS31247|CCDS7424|CCDS81487" Q8TAG9 8889548 MGI:1351611 RGD:3653 609672 HGNC:23196 "ENST00000260762.10|NM_019053.6" +HGNC:17085 EXOC6B exocyst complex component 6B protein-coding gene gene with protein product Approved 2p13.2 02p13.2 KIAA0919 "SEC15L2|SEC15B" "SEC15-like 2 (S. cerevisiae)|SEC15 homolog B (S. cerevisiae)" Exocyst complex 1055 2003-10-06 2006-11-07 2006-11-07 2021-05-26 23233 ENSG00000144036 OTTHUMG00000152723 uc010fep.4 AB023136 NM_001321729 "CCDS82468|CCDS46333" Q9Y2D4 "10231032|11406615" MGI:1923164 RGD:1560638 607880 HGNC:17085 "ENST00000272427.11|NM_015189.3" HGNC:17085 +HGNC:23214 EXOC7 exocyst complex component 7 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "EXO70|KIAA1067|YJL085W|Exo70p|BLOM4" "Exocyst complex|MicroRNA protein coding host genes" "1055|1691" 2004-01-13 2018-06-04 23265 ENSG00000182473 OTTHUMG00000150720 uc002jqr.5 BC029432 NM_015219 "CCDS74164|CCDS45784|CCDS45783|CCDS45782|CCDS45781|CCDS32738|CCDS11741" Q9UPT5 25380822 MGI:1859270 RGD:620236 608163 HGNC:23214 "ENST00000589210.6|NM_001013839.4" HGNC:23214 +HGNC:43871 EXOC7P1 exocyst complex component 7 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 2012-04-04 2012-04-04 391681 ENSG00000250485 OTTHUMG00000161029 NG_022023 PGOHUM00000245649 HGNC:43871 +HGNC:24659 EXOC8 exocyst complex component 8 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "SEC84|EXO84|Exo84p" Exocyst complex 1055 2004-01-09 2019-02-20 149371 ENSG00000116903 OTTHUMG00000038025 uc001huq.4 AL117352 NM_175876 CCDS1593 Q8IYI6 12954101 MGI:2142527 RGD:620245 615283 476288 HGNC:24659 "ENST00000366645.1|NM_175876.5" HGNC:24659 +HGNC:3347 EXOG exo/endonuclease G protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "ENGL-a|ENGL|ENGL-b" "ENDOGL1|ENDOGL2" "endonuclease G-like 1|endonuclease G-like 2|endo/exonuclease (5'-3'), endonuclease G-like" 1999-05-25 2009-01-08 2016-09-27 2016-10-05 9941 ENSG00000157036 OTTHUMG00000131295 uc003cih.3 AB020523 NM_005107 "CCDS46795|CCDS2680" Q9Y2C4 "10231028|18187503" MGI:2143333 RGD:1304628 604051 3.1.30.- HGNC:3347 "ENST00000287675.10|NM_005107.4" +HGNC:44547 EXOGP1 EXOG pseudogene 1 pseudogene pseudogene Approved 18q11.1 18q11.1 endo/exonuclease (5'-3'), endonuclease G-like pseudogene 1 2012-11-15 2019-01-21 2019-01-21 100128324 ENSG00000263748 OTTHUMG00000178591 NG_009889 PGOHUM00000234891 HGNC:44547 +HGNC:17286 EXOSC1 exosome component 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "hCsl4p|Csl4p|CSL4|Ski4p|SKI4|CGI-108|p13" CSL4 exosomal core protein homolog (yeast) Exosome complex 817 2004-03-26 2016-10-05 51013 ENSG00000171311 OTTHUMG00000018854 uc001kni.4 AF151866 NM_001318362 "CCDS81492|CCDS7459" Q9Y3B2 "11812149|11719186" MGI:1913833 RGD:1591855 606493 HGNC:17286 "ENST00000370902.8|NM_016046.5" HGNC:17286 +HGNC:17097 EXOSC2 exosome component 2 protein-coding gene gene with protein product Approved 9q34.12 09q34.12 "hRrp4p|Rrp4p|RRP4|p7" homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4) Exosome complex 817 2004-03-26 2021-05-26 23404 ENSG00000130713 OTTHUMG00000020811 uc004bzu.4 AK001916 NM_014285 "CCDS6935|CCDS65160|CCDS65161" Q13868 "8600032|1538749" MGI:2385133 RGD:1306573 602238 HGNC:17097 "ENST00000372358.10|NM_014285.7" HGNC:17097 +HGNC:17944 EXOSC3 exosome component 3 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "hRrp40p|Rrp40p|RRP40|CGI-102|p10|hRrp-40" "exosome component Rrp40|CGI-102 protein" Exosome complex 817 2004-03-26 2021-05-26 51010 ENSG00000107371 OTTHUMG00000019932 uc004aal.4 BC002437 NM_016042 "CCDS35016|CCDS43805" Q9NQT5 "10810093|11110791" MGI:1913612 RGD:1304739 606489 303747 HGNC:17944 "ENST00000327304.10|NM_016042.4" HGNC:17944 +HGNC:33989 EXOSC3P1 exosome component 3 pseudogene 1 pseudogene pseudogene Approved 21q22.11 21q22.11 2008-02-05 2011-03-17 100151640 ENSG00000229007 OTTHUMG00000064920 NG_007654 PGOHUM00000239164 HGNC:33989 +HGNC:33990 EXOSC3P2 exosome component 3 pseudogene 2 pseudogene pseudogene Approved 19p13.2 19p13.2 2008-02-05 2008-02-05 2016-07-25 100190954 ENSG00000269763 OTTHUMG00000182506 NG_008711 PGOHUM00000294853 HGNC:33990 +HGNC:18189 EXOSC4 exosome component 4 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "hRrp41p|FLJ20591|Rrp41p|RRP41|RRP41A|Ski6p|SKI6|p12A" exosome component Rrp41 "Exosome complex|MicroRNA protein coding host genes" "817|1691" 2004-03-26 2004-03-26 54512 ENSG00000178896 OTTHUMG00000165437 uc003zau.4 AF281133 NM_019037 CCDS6414 Q9NPD3 11110791 MGI:1923576 RGD:1310986 606491 HGNC:18189 "ENST00000316052.6|NM_019037.3" +HGNC:24662 EXOSC5 exosome component 5 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "hRrp46p|Rrp46p|RRP46|RRP41B|MGC12901|p12B" exosome component Rrp46 Exosome complex 817 2004-03-26 2016-10-05 56915 ENSG00000077348 OTTHUMG00000182759 uc002oqo.4 AF285785 NM_020158 CCDS12580 Q9NQT4 "11110791|11812149" MGI:107889 RGD:1307861 606492 HGNC:24662 "ENST00000221233.9|NM_020158.4" +HGNC:19055 EXOSC6 exosome component 6 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "MTR3|hMtr3p|Mtr3p|EAP4|p11" Mtr3 (mRNA transport regulator 3)-homolog (yeast) Exosome complex 817 2004-03-26 2014-11-19 118460 ENSG00000223496 OTTHUMG00000137578 uc002eym.2 BC052252 NM_058219 CCDS10887 Q5RKV6 "11719186|12419256" MGI:1919794 RGD:1309832 606490 HGNC:19055 "ENST00000435634.3|NM_058219.3" +HGNC:28112 EXOSC7 exosome component 7 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "hRrp42p|Rrp42p|RRP42|EAP1|KIAA0116|p8" Exosome complex 817 2004-03-26 2016-10-05 23016 ENSG00000075914 OTTHUMG00000133095 uc003coi.3 BC012831 NM_015004 CCDS2725 Q15024 "11719186|11812149" MGI:1913696 RGD:1309758 606488 3.1.13.- HGNC:28112 "ENST00000265564.8|NM_015004.4" +HGNC:17035 EXOSC8 exosome component 8 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "OIP2|RRP43|bA421P11.3|Rrp43p|EAP2|p9|CIP3" "CBP-interacting protein 3|Opa interacting protein 2" Exosome complex 817 2004-03-26 2021-05-26 11340 ENSG00000120699 OTTHUMG00000016742 uc001uwa.5 AF025438 NM_181503 CCDS31958 Q96B26 "9466265|11929972" MGI:1916889 RGD:1306169 606019 415196 3.1.13.- HGNC:17035 "ENST00000389704.4|NM_181503.3" HGNC:17035 +HGNC:9137 EXOSC9 exosome component 9 protein-coding gene gene with protein product Approved 4q27 04q27 "PM/Scl-75|Rrp45p|RRP45|p5|p6" polymyositis/scleroderma autoantigen 1 (75kD) PMSCL1 polymyositis/scleroderma autoantigen 1, 75kDa Exosome complex 817 1994-09-19 2004-06-18 2004-06-16 2021-05-26 5393 ENSG00000123737 OTTHUMG00000128783 uc003iea.4 M58460 NM_005033 "CCDS34057|CCDS3722" Q06265 MGI:1355319 RGD:1307888 606180 3.1.13.- HGNC:9137 "ENST00000243498.10|NM_005033.3" HGNC:9137 +HGNC:9138 EXOSC10 exosome component 10 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "PM-Scl|PM/Scl-100|Rrp6p|RRP6|p2|p3|p4" polymyositis/scleroderma autoantigen 2 (100kD) PMSCL2 polymyositis/scleroderma autoantigen 2, 100kDa Exosome complex 817 1994-09-19 2004-06-18 2004-06-16 2014-11-19 5394 ENSG00000171824 OTTHUMG00000002123 uc001asb.4 BC073788 NM_001001998 "CCDS126|CCDS30584" Q01780 "1383382|1644924" MGI:1355322 RGD:1593248 605960 HGNC:9138 "ENST00000376936.9|NM_001001998.3" +HGNC:40456 EXOSC10-AS1 EXOSC10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 Antisense RNAs 1987 2018-09-26 2018-09-26 105376736 ENSG00000230337 OTTHUMG00000002122 NR_135061 HGNC:40456 +HGNC:30578 EXPH5 exophilin 5 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 SLAC2-B synaptotagmin-like homologue lacking C2 domains b 2005-10-04 2021-05-26 23086 ENSG00000110723 OTTHUMG00000166536 uc001pkk.3 NM_015065 "CCDS8341|CCDS76473" Q8NEV8 "9734811|11773082" MGI:2443248 RGD:1560308 612878 423086 HGNC:30578 "ENST00000265843.9|NM_015065.3" HGNC:30578 +HGNC:3512 EXT1 exostosin glycosyltransferase 1 protein-coding gene gene with protein product Approved 8q24.11 08q24.11 ttv "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" "LGCR|LGS" "Langer-Giedion syndrome chromosome region|exostoses (multiple) 1|exostosin 1" Exostosin glycosyltransferase family 431 1993-05-04 2013-03-01 2021-05-26 2131 ENSG00000182197 OTTHUMG00000059718 uc003yok.3 S79639 NM_000127 CCDS6324 Q16394 MGI:894663 RGD:1587375 "Multiple Osteochondroma Mutation Database|http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT1|LRG_493|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_493.xml" EXT1 608177 121645 "2.4.1.224|2.4.1.225" HGNC:3512 "ENST00000378204.7|NM_000127.3" HGNC:3512 +HGNC:3513 EXT2 exostosin glycosyltransferase 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 SOTV "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" "exostoses (multiple) 2|exostosin 2" Exostosin glycosyltransferase family 431 1994-06-01 2013-03-01 2021-05-26 2132 ENSG00000151348 OTTHUMG00000166498 uc001mxz.4 NM_000401 "CCDS7908|CCDS53619" Q93063 "8162019|9576285" MGI:108050 RGD:1307707 "Multiple Osteochondroma Mutation Database|http://medgen.ua.ac.be/LOVDv.2.0/home.php?select_db=EXT2|LRG_494|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_494.xml" EXT2 608210 121648 "2.4.1.224|2.4.1.225" HGNC:3513 "ENST00000533608.7|NM_207122.2" HGNC:3513 +HGNC:3515 EXTL1 exostosin like glycosyltransferase 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "EXTL|MGC70794" "glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|alpha-N-acetylglucosaminyltransferase II|glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase|exostosin-L" exostoses (multiple)-like 1 Exostosin glycosyltransferase family 431 1997-06-12 2016-06-01 2016-10-05 2134 ENSG00000158008 OTTHUMG00000007509 uc001blf.4 U67191 NM_004455 CCDS271 Q92935 9037597 MGI:1888742 RGD:1309572 601738 2.4.1.224 HGNC:3515 "ENST00000374280.4|NM_004455.3" +HGNC:3516 EXTL2 exostosin like glycosyltransferase 2 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 alpha-1,4-N-acteylhexosaminyltransferase exostoses (multiple)-like 2 Exostosin glycosyltransferase family 431 1998-03-20 2016-06-01 2016-10-05 2135 ENSG00000162694 OTTHUMG00000011814 uc001dtl.3 U76189 NM_001439 "CCDS775|CCDS72831" Q9UBQ6 "9450183|15831490" MGI:1889574 RGD:1307684 602411 2.4.1.223 HGNC:3516 "ENST00000370114.8|NM_001033025.3" +HGNC:3517 EXTL2P1 exostosin like glycosyltransferase 2 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 EXTL2P exostoses (multiple)-like 2 pseudogene 1998-03-20 2010-03-12 2016-06-01 2020-04-20 100287682 ENSG00000223976 OTTHUMG00000154110 NG_016787 9450183 PGOHUM00000241025 HGNC:3517 +HGNC:3518 EXTL3 exostosin like glycosyltransferase 3 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "botv|REGR" "REG receptor|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase" exostoses (multiple)-like 3 Exostosin glycosyltransferase family 431 1998-03-20 2016-02-17 2021-05-26 2137 ENSG00000012232 OTTHUMG00000102146 uc003xgz.3 U76188 NM_001440 CCDS6070 O43909 "9479495|9450183|11257457" MGI:1860765 RGD:62065 605744 2.4.1.223 HGNC:3518 "ENST00000220562.9|NM_001440.4" +HGNC:27985 EXTL3-AS1 EXTL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p21.1 08p21.1 C8orf50 "chromosome 8 open reading frame 50|EXTL3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-08-11 2012-04-13 2012-08-15 2020-04-20 101929402 ENSG00000246339 OTTHUMG00000164029 uc003xgy.4 BC043205 NR_126027 12477932 EXTL3-AS1 HGNC:27985 +HGNC:3519 EYA1 EYA transcriptional coactivator and phosphatase 1 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 BOR "eyes absent (Drosophila) homolog 1|eyes absent homolog 1 (Drosophila)" EYA transcriptional coactivator and phosphatases 1044 1996-12-12 2014-06-19 2021-05-26 2138 ENSG00000104313 OTTHUMG00000149894 uc003xyu.3 AJ000098 "NM_000503|NM_172060" "CCDS34906|CCDS34907|CCDS75750" Q99502 9020840 MGI:109344 RGD:1584849 601653 121651 HGNC:3519 "ENST00000340726.8|NM_000503.6" HGNC:3519 +HGNC:3520 EYA2 EYA transcriptional coactivator and phosphatase 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 EAB1 "eyes absent (Drosophila) homolog 2|eyes absent homolog 2 (Drosophila)" "EYA transcriptional coactivator and phosphatases|MicroRNA protein coding host genes" "1044|1691" 1997-06-24 2014-06-19 2016-10-05 2139 ENSG00000064655 OTTHUMG00000033041 uc002xsm.3 NM_005244 "CCDS13403|CCDS54471" O00167 9020840 MGI:109341 RGD:620096 601654 HGNC:3520 "ENST00000327619.10|NM_005244.5" +HGNC:3521 EYA3 EYA transcriptional coactivator and phosphatase 3 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 DKFZp686C132 "eyes absent (Drosophila) homolog 3|eyes absent homolog 3 (Drosophila)" EYA transcriptional coactivator and phosphatases 1044 1997-06-24 2014-06-19 2016-10-05 2140 ENSG00000158161 OTTHUMG00000003916 uc001bpi.3 U81602 NM_001990 "CCDS60050|CCDS60052|CCDS60051|CCDS316" Q99504 9020840 MGI:109339 RGD:1309932 601655 HGNC:3521 "ENST00000373871.8|NM_001990.4" +HGNC:3522 EYA4 EYA transcriptional coactivator and phosphatase 4 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "DFNA10|CMD1J" "eyes absent (Drosophila) homolog 4|eyes absent homolog 4 (Drosophila)" EYA transcriptional coactivator and phosphatases 1044 1998-07-15 2014-06-19 2021-05-26 2070 ENSG00000112319 OTTHUMG00000015602 uc011ecs.3 Y17114 NM_004100 "CCDS43506|CCDS75521|CCDS75523|CCDS5165" O95677 "9887327|11159937" MGI:1337104 RGD:1307099 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_418|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_418.xml" 603550 121654 HGNC:3522 "ENST00000355286.12|NM_004100.5" HGNC:3522 +HGNC:21555 EYS eyes shut homolog protein-coding gene gene with protein product Approved 6q12 06q12 "dJ1018A4.2|bA166P24.2|SPAM|bA307F22.3|dJ303F19.1|bA74E24.1" "C6orf180|EGFL11|RP25|EGFL10|C6orf178|C6orf179" "chromosome 6 open reading frame 180|EGF-like-domain, multiple 11|retinitis pigmentosa 25 (autosomal recessive)|EGF-like-domain, multiple 10|chromosome 6 open reading frame 178|chromosome 6 open reading frame 179|eyes shut homolog (Drosophila)" 2003-11-26 2008-10-20 2018-08-02 2018-11-15 346007 ENSG00000188107 OTTHUMG00000014971 uc011dxu.1 NM_001292009 "CCDS47445|CCDS78156|CCDS47446|CCDS4967" Q5T1H1 "18836446|18976725" 612424 169936 HGNC:21555 "ENST00000503581.6|NM_001142800.2" HGNC:21555 +HGNC:3526 EZH1 enhancer of zeste 1 polycomb repressive complex 2 subunit protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KIAA0388|KMT6B" "enhancer of zeste (Drosophila) homolog 1|enhancer of zeste homolog 1 (Drosophila)" "Lysine methyltransferases|Myb/SANT domain containing|Polycomb repressive complex 2|SET domain containing|MicroRNA protein coding host genes" "487|532|1347|1399|1691" 1995-12-21 2014-05-28 2016-10-05 2145 ENSG00000108799 OTTHUMG00000180645 uc002iaz.4 NM_001991 "CCDS82130|CCDS32659|CCDS82129" Q92800 8921387 MGI:1097695 RGD:1305028 601674 objectId:2835 HGNC:3526 "ENST00000428826.7|NM_001991.5" +HGNC:3527 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "EZH1|ENX-1|KMT6|KMT6A" "enhancer of zeste (Drosophila) homolog 2|enhancer of zeste homolog 2 (Drosophila)" "Lysine methyltransferases|Myb/SANT domain containing|Polycomb repressive complex 2|SET domain containing" "487|532|1347|1399" 1995-12-21 2014-05-28 2021-05-26 2146 ENSG00000106462 OTTHUMG00000158973 uc003wfb.3 NM_004456 "CCDS56516|CCDS56518|CCDS5892|CCDS5891|CCDS56517" Q15910 "8954776|17172412" MGI:107940 RGD:1595860 LRG_531|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_531.xml EZH2 601573 291819 objectId:2654 HGNC:3527 "ENST00000320356.7|NM_004456.5" HGNC:3527 +HGNC:39918 EZH2P1 enhancer of zeste 2 polycomb repressive complex 2 subunit pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 enhancer of zeste homolog 2 (Drosophila) pseudogene 1 2011-04-12 2015-03-18 2015-03-18 266693 ENSG00000231300 OTTHUMG00000086464 NG_002373 PGOHUM00000239072 HGNC:39918 +HGNC:33738 EZHIP EZH inhibitory protein protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CATACOMB catalytic antagonist of Polycomb CXorf67 chromosome X open reading frame 67 2009-04-14 2019-03-29 2019-03-29 2019-07-15 340602 ENSG00000187690 OTTHUMG00000187481 uc064zgx.1 BC046248 NM_203407 CCDS78485 Q86X51 "30923826|31086175|31281901" MGI:2147968 RGD:7681336 301036 HGNC:33738 "ENST00000342995.4|NM_203407.3" +HGNC:12691 EZR ezrin protein-coding gene gene with protein product Approved 6q25.3 06q25.3 cytovillin 2 VIL2 villin 2 (ezrin) "A-kinase anchoring proteins|FERM domain containing" "396|1293" 1989-06-30 2007-11-29 2007-11-29 2015-09-11 7430 ENSG00000092820 OTTHUMG00000015917 uc003qru.5 AF187552 NM_003379 CCDS5258 P15311 MGI:98931 RGD:621161 EZR 123900 448725 HGNC:12691 "ENST00000367075.4|NM_001111077.2" HGNC:12691 +HGNC:40609 EZR-AS1 EZR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 EZR antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2021-07-05 101409257 ENSG00000233893 OTTHUMG00000015915 uc063soa.1 "AI831881|BE552153" NR_102425 EZR-AS1 HGNC:40609 +HGNC:3535 F2 coagulation factor II, thrombin protein-coding gene gene with protein product Approved 11p11.2 11p11.2 prepro-coagulation factor II coagulation factor II (thrombin) "Receptor ligands|Gla domain containing|Complement system regulators and receptors" "542|1250|1639" 2001-06-22 2016-01-15 2021-05-26 2147 ENSG00000180210 OTTHUMG00000150344 uc001ndf.5 M33031 NM_000506 CCDS31476 P00734 MGI:88380 RGD:61996 LRG_551|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_551.xml 176930 121671 S01.217 objectId:2362 3.4.21.5 HGNC:3535 "ENST00000311907.10|NM_000506.5" HGNC:3535 +HGNC:3537 F2R coagulation factor II thrombin receptor protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "TR|CF2R|PAR1|PAR-1" protease activated receptor 1 coagulation factor II (thrombin) receptor F2R receptors 219 1991-07-16 2016-01-15 2021-05-26 2149 ENSG00000181104 OTTHUMG00000131299 uc003ken.5 M62424 NM_001992 CCDS4032 P25116 8395910 MGI:101802 RGD:2586 LRG_641|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_641.xml 187930 470304 objectId:347 HGNC:3537 "ENST00000319211.5|NM_001992.5" +HGNC:3538 F2RL1 F2R like trypsin receptor 1 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 PAR2 proteinase-activated receptor-2 GPR11 coagulation factor II (thrombin) receptor-like 1 F2R receptors 219 1997-10-27 2016-01-20 2016-10-05 2150 ENSG00000164251 OTTHUMG00000102118 uc003keo.4 BC018130 NM_005242 CCDS4033 P55085 "7937743|7556175" MGI:101910 RGD:620866 600933 470306 objectId:348 HGNC:3538 "ENST00000296677.5|NM_005242.6" +HGNC:3539 F2RL2 coagulation factor II thrombin receptor like 2 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 PAR3 proteinase-activated receptor-3 coagulation factor II (thrombin) receptor-like 2 F2R receptors 219 1997-10-27 2016-01-20 2016-10-05 2151 ENSG00000164220 OTTHUMG00000102119 uc003kem.4 U92971 NM_004101 "CCDS4031|CCDS58959" O00254 "9087410|9722561" MGI:1298208 RGD:620871 601919 objectId:349 HGNC:3539 "ENST00000296641.5|NM_004101.4" +HGNC:3540 F2RL3 F2R like thrombin or trypsin receptor 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 PAR4 proteinase-activated receptor-4 "coagulation factor II (thrombin) receptor-like 3|F2R like thrombin/trypsin receptor 3" F2R receptors 219 1999-01-13 2017-05-31 2021-04-13 9002 ENSG00000127533 OTTHUMG00000182647 uc002nfa.4 AF055917 NM_003950 CCDS12350 Q96RI0 9618465 MGI:1298207 RGD:620872 LRG_633|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_633.xml 602779 objectId:350 HGNC:3540 "ENST00000248076.4|NM_003950.4" +HGNC:3541 F3 coagulation factor III, tissue factor protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "CD142|TF" tissue factor coagulation factor III (thromboplastin, tissue factor) CD molecules 471 2001-06-22 2016-01-15 2021-04-13 2152 ENSG00000117525 OTTHUMG00000010716 uc001dqr.4 BC011029 NM_001993 "CCDS53345|CCDS750" P13726 MGI:88381 RGD:2587 LRG_552|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_552.xml 134390 objectId:3192 CD142 HGNC:3541 "ENST00000334047.12|NM_001993.5" +HGNC:3542 F5 coagulation factor V protein-coding gene gene with protein product Approved 1q24.2 01q24.2 coagulation factor V (proaccelerin, labile factor) 2001-06-22 2016-01-15 2021-05-26 2153 ENSG00000198734 OTTHUMG00000034595 uc001ggg.2 M14335 NM_000130 CCDS1281 P12259 MGI:88382 RGD:1589758 LRG_553|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_553.xml 612309 121673 objectId:2606 HGNC:3542 "ENST00000367797.9|NM_000130.5" HGNC:3542 +HGNC:3544 F7 coagulation factor VII protein-coding gene gene with protein product Approved 13q34 13q34 "eptacog alfa|FVII coagulation protein|factor VII" coagulation factor VII (serum prothrombin conversion accelerator) Gla domain containing 1250 2001-06-22 2016-01-15 2021-05-26 2155 ENSG00000057593 OTTHUMG00000017373 uc001vsv.5 NM_000131 "CCDS9529|CCDS9528|CCDS73602" P08709 "3264725|2511201" MGI:109325 RGD:628678 LRG_554|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_554.xml 613878 121675 S01.215 objectId:2363 3.4.21.21 HGNC:3544 "ENST00000346342.8|NM_019616.4" HGNC:3544 +HGNC:3545 F7R coagulation factor VII regulator other unknown Approved 8p23.2-p23.1 08p23.2-p23.1 F7E 2001-06-22 2013-03-15 2156 "3410461|6714981" +HGNC:3546 F8 coagulation factor VIII protein-coding gene gene with protein product Approved Xq28 Xq28 "FVIII|DXS1253E|HEMA" "Factor VIIIF8B|hemophilia A" F8C coagulation factor VIII, procoagulant component 2001-06-22 2016-01-15 2021-05-26 2157 ENSG00000185010 OTTHUMG00000022688 uc004fmt.4 M90707 NM_000132 "CCDS35457|CCDS44026" P00451 "6438528|3935400" MGI:88383 RGD:727845 "HAMSTeRS: The Haemophilia A Mutation, Structure, Test & Resource Site|http://hadb.org.uk/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/F8|LRG_555|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_555.xml" 300841 121677 objectId:2607 HGNC:3546 "ENST00000360256.9|NM_000132.4" HGNC:3546 +HGNC:3547 F8A1 coagulation factor VIII associated 1 protein-coding gene gene with protein product Approved Xq28 Xq28 DXS522E F8A coagulation factor VIII-associated (intronic transcript) 1 2000-08-24 2004-11-02 2017-05-12 2021-08-17 8263 ENSG00000288722 OTTHUMG00000013500 uc004fmv.4 M34677 NM_012151 CCDS35459 P23610 2110545 MGI:95474 RGD:1566014 305423 HGNC:3547 "ENST00000610495.2|NM_012151.4" +HGNC:31849 F8A2 coagulation factor VIII associated 2 protein-coding gene gene with protein product Approved Xq28 Xq28 coagulation factor VIII-associated (intronic transcript) 2 2004-11-01 2017-05-12 2021-08-17 474383 ENSG00000288709 OTTHUMG00000034293 uc004fni.4 NM_001007523 CCDS35462 P23610 MGI:95474 HGNC:31849 "ENST00000369505.5|NM_001007523.2" +HGNC:31850 F8A3 coagulation factor VIII associated 3 protein-coding gene gene with protein product Approved Xq28 Xq28 coagulation factor VIII-associated (intronic transcript) 3 2004-11-01 2017-05-12 2017-05-12 474384 ENSG00000277150 OTTHUMG00000034289 uc004fnj.4 NM_001007524 CCDS35463 P23610 MGI:95474 HGNC:31850 "ENST00000622749.2|NM_001007524.2" +HGNC:3551 F9 coagulation factor IX protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 FIX "Factor IX|plasma thromboplastic component|Christmas disease|hemophilia B" Gla domain containing 1250 2001-06-22 2008-08-01 2021-05-26 2158 ENSG00000101981 OTTHUMG00000022536 uc004fas.2 M11309 NM_000133 "CCDS14666|CCDS83495" P00740 MGI:88384 RGD:2589 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/F9|LRG_556|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_556.xml" 300746 121683 S01.214 objectId:2364 3.4.21.22 HGNC:3551 "ENST00000218099.7|NM_000133.4" HGNC:3551 +HGNC:3528 F10 coagulation factor X protein-coding gene gene with protein product Approved 13q34 13q34 Gla domain containing 1250 2001-06-22 2021-05-26 2159 ENSG00000126218 OTTHUMG00000017374 uc001vsx.4 NM_000504 "CCDS81783|CCDS9530" P00742 MGI:103107 RGD:61850 LRG_548|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_548.xml 613872 121658 S01.216 objectId:2359 3.4.21.6 HGNC:3528 "ENST00000375559.8|NM_000504.4" HGNC:3528 +HGNC:40225 F10-AS1 F10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 F10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-09 2012-08-15 2014-11-19 104413892 ENSG00000231882 OTTHUMG00000133691 uc058yln.1 NR_126424 F10-AS1 HGNC:40225 +HGNC:3529 F11 coagulation factor XI protein-coding gene gene with protein product Approved 4q35.2 04q35.2 FXI plasma thromboplastin antecedent 1988-05-11 2008-08-01 2021-05-26 2160 ENSG00000088926 OTTHUMG00000150311 uc003iza.2 M13142 NM_000128 "CCDS3847|CCDS87285" P03951 MGI:99481 RGD:1309364 LRG_583|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_583.xml 264900 121660 S01.213 objectId:2360 3.4.21.27 HGNC:3529 "ENST00000403665.7|NM_000128.4" HGNC:3529 +HGNC:27725 F11-AS1 F11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 Antisense RNAs 1987 2013-09-17 2019-07-12 285441 ENSG00000251165 OTTHUMG00000160319 BC038717 NR_033901 "28220683|31168823" F11-AS1 HGNC:27725 +HGNC:14685 F11R F11 receptor protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "PAM-1|JCAM|JAM-1|JAM-A|JAMA|CD321" JAM1 junctional adhesion molecule 1 "CD molecules|V-set domain containing|Ig-like cell adhesion molecule family" "471|590|1410" 2001-04-10 2003-02-14 2003-02-07 2016-10-05 50848 ENSG00000158769 OTTHUMG00000028602 uc009wtt.4 AF111713 NM_016946 "CCDS86026|CCDS1213" Q9Y624 "10395639|7646439" MGI:1321398 RGD:621842 605721 CD321 HGNC:14685 "ENST00000368026.11|NM_016946.6" +HGNC:3530 F12 coagulation factor XII protein-coding gene gene with protein product Approved 5q35.3 05q35.3 coagulation factor XII (Hageman factor) 2001-06-22 2016-01-15 2021-05-26 2161 ENSG00000131187 OTTHUMG00000163403 uc003mgo.5 M31315 NM_000505 CCDS34302 P00748 MGI:1891012 RGD:1359175 LRG_145|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_145.xml 610619 121663 S01.211 objectId:2361 3.4.21.38 HGNC:3530 "ENST00000253496.4|NM_000505.4" HGNC:3530 +HGNC:3531 F13A1 coagulation factor XIII A chain protein-coding gene gene with protein product Approved 6p25.1 06p25.1 F13A coagulation factor XIII, A1 polypeptide "Transglutaminases|MicroRNA protein coding host genes" "773|1691" 2001-06-22 2016-01-15 2021-05-26 2162 ENSG00000124491 OTTHUMG00000014186 uc003mwv.4 M14539 NM_000129 CCDS4496 P00488 MGI:1921395 RGD:621495 LRG_549|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_549.xml 134570 121665 HGNC:3531 "ENST00000264870.8|NM_000129.4" HGNC:3531 +HGNC:3534 F13B coagulation factor XIII B chain protein-coding gene gene with protein product Approved 1q31.3 01q31.3 FXIIIB coagulation factor XIII, B polypeptide Sushi domain containing 1179 2001-06-22 2016-01-15 2021-05-26 2165 ENSG00000143278 OTTHUMG00000036519 uc001gtt.1 M14057 NM_001994 CCDS1388 P05160 "2339067|2271707" MGI:88379 RGD:1311668 LRG_550|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_550.xml 134580 121668 HGNC:3534 "ENST00000367412.2|NM_001994.3" HGNC:3534 +HGNC:21197 FA2H fatty acid 2-hydroxylase protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "FAAH|FLJ25287" fatty acid hydroxylase "FAXDC1|SPG35" "fatty acid hydroxylase domain containing 1|spastic paraplegia 35 (autosomal recessive)" Fatty acid hydroxylase domain containing 552 2003-05-27 2003-10-31 2003-10-29 2016-10-05 79152 ENSG00000103089 OTTHUMG00000137603 uc002fde.3 BC002679 NM_024306 CCDS10911 Q7L5A8 20104589 MGI:2443327 RGD:1310347 611026 178127 HGNC:21197 "ENST00000219368.8|NM_024306.5" HGNC:21197 +HGNC:3553 FAAH fatty acid amide hydrolase protein-coding gene gene with protein product Approved 1p33 01p33 FAAH-1 1998-01-20 2016-10-05 2166 ENSG00000117480 OTTHUMG00000007811 uc001cpu.3 U82535 NM_001441 CCDS535 O00519 9122178 MGI:109609 RGD:61808 602935 objectId:1400 HGNC:3553 "ENST00000243167.9|NM_001441.3" +HGNC:26440 FAAH2 fatty acid amide hydrolase 2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "RP11-479E16.1|FLJ31204|FAAH-2" AMDD amidase domain containing 2006-07-11 2006-11-24 2006-11-24 2020-04-02 158584 ENSG00000165591 OTTHUMG00000021684 uc004dvc.4 AK055766 NM_174912 CCDS14375 Q6GMR7 17015445 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAAH2 300654 objectId:1401 HGNC:26440 "ENST00000374900.5|NM_174912.4" +HGNC:50679 FAAHP1 fatty acid amide hydrolase pseudogene 1 pseudogene pseudogene Approved 1p33 01p33 FAAH-OUT LINC00505 long intergenic non-protein coding RNA 505 2014-06-05 2019-09-05 729041 ENSG00000232022 OTTHUMG00000007812 NR_045483 30929760 618375 PGOHUM00000244703 HGNC:50679 +HGNC:26428 FAAP20 FA core complex associated protein 20 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ31031 C1orf86 "chromosome 1 open reading frame 86|Fanconi anemia core complex associated protein 20" 2005-05-27 2015-05-29 2018-05-09 2018-05-09 199990 ENSG00000162585 OTTHUMG00000001404 AK126870 NM_182533 "CCDS57965|CCDS38|CCDS72687|CCDS72686" Q6NZ36 "14702039|22343915" MGI:1914763 RGD:1308923 615183 HGNC:26428 "ENST00000378546.9|NM_182533.4" +HGNC:28467 FAAP24 FA core complex associated protein 24 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "FLJ46828|MGC32020" Fanconi anemia-associated protein, 24kDa C19orf40 "chromosome 19 open reading frame 40|Fanconi anemia core complex associated protein 24" 2006-03-31 2015-05-29 2018-05-09 2018-05-09 91442 ENSG00000131944 OTTHUMG00000180339 AK128668 NM_152266 "CCDS74327|CCDS12426" Q9BTP7 17289582 MGI:2142208 RGD:1564719 610884 HGNC:28467 "ENST00000588258.6|NM_152266.5" +HGNC:26171 FAAP100 FA core complex associated protein 100 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ22175 Fanconi anemia-associated protein, 100kDa C17orf70 "chromosome 17 open reading frame 70|Fanconi anemia core complex associated protein 100" 2005-12-19 2015-05-29 2018-05-09 2018-05-09 80233 ENSG00000185504 OTTHUMG00000167764 BC008883 NM_025161 CCDS32765 Q0VG06 17396147 MGI:1919135 RGD:1306926 611301 HGNC:26171 "ENST00000327787.13|NM_025161.6" +HGNC:3555 FABP1 fatty acid binding protein 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 L-FABP fatty acid binding protein 1, liver Fatty acid binding protein family 550 2001-06-22 2016-01-20 2016-10-05 2168 ENSG00000163586 OTTHUMG00000130312 uc002sst.3 M10617 NM_001443 CCDS2001 P07148 "3012800|17698986" MGI:95479 RGD:2590 134650 objectId:2531 HGNC:3555 "ENST00000295834.8|NM_001443.3" +HGNC:3556 FABP2 fatty acid binding protein 2 protein-coding gene gene with protein product Approved 4q26 04q26 I-FABP fatty acid binding protein 2, intestinal Fatty acid binding protein family 550 1986-01-01 2016-01-20 2016-10-05 2169 ENSG00000145384 OTTHUMG00000132972 uc003icw.4 J03465 NM_000134 CCDS3712 P12104 MGI:95478 RGD:2591 134640 objectId:2532 HGNC:3556 "ENST00000274024.4|NM_000134.4" +HGNC:3557 FABP3 fatty acid binding protein 3 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "H-FABP|O-FABP" mammary-derived growth inhibitor "MDGI|FABP11" "fatty acid binding protein 11|fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)|fatty acid binding protein 3, muscle and heart" Fatty acid binding protein family 550 1991-08-06 2016-01-20 2016-10-05 2170 ENSG00000121769 OTTHUMG00000003797 uc001bss.2 U57623 NM_004102 CCDS342 P05413 8661024 MGI:95476 RGD:69048 134651 objectId:2533 HGNC:3557 "ENST00000373713.7|NM_004102.5" +HGNC:3558 FABP3P2 fatty acid binding protein 3 pseudogene 2 pseudogene pseudogene Approved 13q14.11 13q14.11 "FABP3-ps|FABP3P" 2000-07-31 2016-01-18 2017-03-22 56677 ENSG00000233259 OTTHUMG00000016806 U72237 NG_001286 9256083 PGOHUM00000291945 HGNC:3558 +HGNC:3559 FABP4 fatty acid binding protein 4 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "A-FABP|aP2" adipocyte fatty acid binding protein Fatty acid binding protein family 550 1991-08-06 2016-01-18 2016-01-18 2167 ENSG00000170323 OTTHUMG00000164602 uc003ycd.3 J02874 NM_001442 CCDS6230 P15090 2481498 MGI:88038 RGD:69309 600434 objectId:2534 HGNC:3559 "ENST00000256104.5|NM_001442.3" HGNC:3559 +HGNC:3560 FABP5 fatty acid binding protein 5 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "E-FABP|PA-FABP|KFABP" fatty acid binding protein 5 (psoriasis-associated) Fatty acid binding protein family 550 1995-03-28 2016-01-18 2016-01-18 2171 ENSG00000164687 OTTHUMG00000134313 uc003yca.3 M94856 NM_001444 CCDS6228 Q01469 1512466 MGI:101790 RGD:70997 605168 objectId:2535 HGNC:3560 "ENST00000297258.11|NM_001444.3" +HGNC:31059 FABP5P1 fatty acid binding protein 5 pseudogene 1 pseudogene pseudogene Approved 13q22.1 13q22.1 FABP5 FABP5L1 "fatty acid binding protein 5-like 1|fatty acid binding protein 5-like 1 (pseudogene)" 2004-04-16 2010-10-12 2010-10-12 2014-11-18 387934 ENSG00000236972 OTTHUMG00000017073 NG_006997 HGNC:31059 +HGNC:31060 FABP5P2 fatty acid binding protein 5 pseudogene 2 pseudogene pseudogene Approved 13q14.3 13q14.3 FABP5L2 fatty acid binding protein 5-like 2 2004-04-16 2010-10-12 2010-10-12 2014-11-19 729163 ENSG00000236044 OTTHUMG00000016954 NG_009322 HGNC:31060 +HGNC:22573 FABP5P3 fatty acid binding protein 5 pseudogene 3 pseudogene pseudogene Approved 7q36.1 07q36.1 TCAG_1781704 FABP5L3 "fatty acid binding protein 5-like 3|fatty acid binding protein 5-like 3 (pseudogene)" 2004-04-16 2010-10-12 2010-10-12 2010-10-12 220832 ENSG00000241735 OTTHUMG00000157257 NR_002935 A8MUU1 HGNC:22573 +HGNC:31061 FABP5P4 fatty acid binding protein 5 pseudogene 4 pseudogene pseudogene Approved 13q31.3 13q31.3 FABP5L4 fatty acid binding protein 5-like 4 2004-04-16 2010-10-12 2010-10-12 2014-11-19 404766 ENSG00000229287 OTTHUMG00000017196 NG_009370 PGOHUM00000248462 HGNC:31061 +HGNC:31068 FABP5P5 fatty acid binding protein 5 pseudogene 5 pseudogene pseudogene Approved 5q15 05q15 FABP5L5 fatty acid binding protein 5-like 5 2004-04-16 2010-10-12 2010-10-12 2020-04-20 100288964 ENSG00000213716 OTTHUMG00000162739 NG_027896 PGOHUM00000235319 HGNC:31068 +HGNC:31069 FABP5P6 fatty acid binding protein 5 pseudogene 6 pseudogene pseudogene Approved 5q23.1 05q23.1 FABP5L6 fatty acid binding protein 5-like 6 2004-04-16 2010-10-12 2010-10-12 2014-11-18 100130687 ENSG00000249919 OTTHUMG00000162947 NG_008825 PGOHUM00000235371 HGNC:31069 +HGNC:31070 FABP5P7 fatty acid binding protein 5 pseudogene 7 pseudogene pseudogene Approved 11q12.1 11q12.1 FABP5L7 fatty acid binding protein 5-like 7 2004-04-16 2010-10-12 2010-10-12 2014-11-19 728641 ENSG00000234964 NG_009321 HGNC:31070 +HGNC:31063 FABP5P8 fatty acid binding protein 5 pseudogene 8 pseudogene pseudogene Approved 15q25.2 15q25.2 FABP5L8 fatty acid binding protein 5-like 8 2008-06-20 2010-10-12 2010-10-12 2020-04-07 728729 ENSG00000259308 OTTHUMG00000172623 NG_009324 PGOHUM00000247229 HGNC:31063 +HGNC:31064 FABP5P9 fatty acid binding protein 5 pseudogene 9 pseudogene pseudogene Approved 15q25.3 15q25.3 FABP5L9 fatty acid binding protein 5-like 9 2008-06-20 2010-10-12 2010-10-12 2020-04-07 642956 ENSG00000259630 OTTHUMG00000172209 NG_009323 PGOHUM00000247257 HGNC:31064 +HGNC:31066 FABP5P10 fatty acid binding protein 5 pseudogene 10 pseudogene pseudogene Approved 2q23.3 02q23.3 FABP5L10 fatty acid binding protein 5-like 10 2008-06-20 2010-10-12 2010-10-12 2010-10-12 344332 ENSG00000213201 OTTHUMG00000153780 NG_008710 PGOHUM00000240982 HGNC:31066 +HGNC:19328 FABP5P11 fatty acid binding protein 5 pseudogene 11 pseudogene pseudogene Approved 22q11.1 22q11.1 "FABP5P1|FABP5L11" "fatty acid binding protein 5, pseudogene 1|fatty acid binding protein 5-like 11 (pseudogene)" 2002-10-03 2010-10-12 2010-10-12 2016-10-05 266699 ENSG00000240122 OTTHUMG00000150095 NG_002376 PGOHUM00000246198 HGNC:19328 +HGNC:31067 FABP5P12 fatty acid binding protein 5 pseudogene 12 pseudogene pseudogene Approved 4q32.1 04q32.1 FABP5L12 fatty acid binding protein 5-like 12 2008-06-20 2010-10-12 2010-10-12 2014-11-18 100270673 ENSG00000249367 OTTHUMG00000161989 NG_009509 PGOHUM00000246120 HGNC:31067 +HGNC:38717 FABP5P13 fatty acid binding protein 5 pseudogene 13 pseudogene pseudogene Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 FABP5L13 fatty acid binding protein 5-like 13 (pseudogene) Pseudoautosomal region 1 715 2010-07-28 2010-10-12 2010-10-12 2016-10-05 106480712 ENSG00000234958 OTTHUMG00000021050 NG_043499 PGOHUM00000304490 HGNC:38717 +HGNC:31065 FABP5P14 fatty acid binding protein 5 pseudogene 14 pseudogene pseudogene Approved 2q35 02q35 FABP5L14 fatty acid binding protein 5-like 14 (pseudogene) 2010-09-30 2010-10-12 2010-10-12 2014-11-18 100873957 ENSG00000234588 OTTHUMG00000155314 NG_032190 PGOHUM00000240521 HGNC:31065 +HGNC:31071 FABP5P15 fatty acid binding protein 5 pseudogene 15 pseudogene pseudogene Approved Xq21.1 Xq21.1 FABP5L15 fatty acid binding protein 5-like 15 (pseudogene) 2010-09-30 2010-10-12 2010-10-12 2014-11-18 100873958 ENSG00000237106 OTTHUMG00000021881 NG_032191 PGOHUM00000241865 HGNC:31071 +HGNC:3561 FABP6 fatty acid binding protein 6 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "I-15P|ILLBP|I-BAP|ILBP3|I-BABP|ILBP|I-BALB" "illeal lipid-binding protein|ileal bile acid binding protein|gastrotropin" fatty acid binding protein 6, ileal Fatty acid binding protein family 550 1997-09-12 2016-01-20 2016-10-05 2172 ENSG00000170231 OTTHUMG00000130329 uc003lya.2 U19869 NM_001040442 "CCDS4349|CCDS43393" P51161 "7894165|7619861" MGI:96565 RGD:2592 600422 objectId:2536 HGNC:3561 "ENST00000402432.4|NM_001445.3" +HGNC:40226 FABP6-AS1 FABP6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 Antisense RNAs 1987 2019-07-25 2019-07-25 105377690 ENSG00000247699 OTTHUMG00000163565 XR_002956232 HGNC:40226 +HGNC:3562 FABP7 fatty acid binding protein 7 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "B-FABP|BLBP" brain lipid binding protein fatty acid binding protein 7, brain Fatty acid binding protein family 550 1998-01-20 2016-01-20 2016-10-05 2173 ENSG00000164434 OTTHUMG00000015489 uc003pzf.4 D88648 NM_001446 "CCDS5127|CCDS83121" O15540 9375786 MGI:101916 RGD:69312 602965 objectId:2537 HGNC:3562 "ENST00000368444.8|NM_001446.5" +HGNC:41951 FABP7P1 fatty acid binding protein 7 pseudogene 1 pseudogene pseudogene Approved 1q44 01q44 fatty acid binding protein 7, brain pseudogene 1 2011-05-20 2016-01-20 2016-01-20 100506953 ENSG00000226766 OTTHUMG00000040017 NG_029764 PGOHUM00000244522 HGNC:41951 +HGNC:41952 FABP7P2 fatty acid binding protein 7 pseudogene 2 pseudogene pseudogene Approved 2q11.1 02q11.1 fatty acid binding protein 7, brain pseudogene 2 2011-05-20 2016-01-20 2016-01-20 100874317 ENSG00000235129 OTTHUMG00000155162 NG_032382 PGOHUM00000240200 HGNC:41952 +HGNC:3563 FABP9 fatty acid binding protein 9 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "PERF|T-FABP|PERF15" testis fatty acid binding protein Fatty acid binding protein family 550 1998-01-20 2016-01-18 2016-01-18 646480 ENSG00000205186 OTTHUMG00000164601 uc011lfo.3 NM_001080526 Q0Z7S8 7958448 MGI:1194881 RGD:620285 objectId:2538 HGNC:3563 "ENST00000379071.4|NM_001080526.2" +HGNC:34524 FABP12 fatty acid binding protein 12 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 Fatty acid binding protein family 550 2008-11-10 2013-03-01 646486 ENSG00000197416 OTTHUMG00000164679 uc011lfp.3 NM_001105281 CCDS47882 A6NFH5 18786628 MGI:1922747 RGD:1565000 618923 objectId:2584 HGNC:34524 +HGNC:45176 FABP12P1 fatty acid binding protein 12 pseudogene 1 pseudogene pseudogene Approved 6q25.1 06q25.1 2013-03-01 2013-03-01 106479057 ENSG00000216265 OTTHUMG00000015780 NG_044554 PGOHUM00000243414 HGNC:45176 +HGNC:3573 FADD Fas associated via death domain protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "MORT1|GIG3" "Fas-associating protein with death domain|Fas-associating death domain-containing protein|mediator of receptor-induced toxicity|growth-inhibiting gene 3 protein" Fas (TNFRSF6)-associated via death domain "Death effector domain containing|Ripoptosome|Death inducing signaling complex " "1019|1340|1342" 1999-05-07 2015-11-19 2021-04-13 8772 ENSG00000168040 OTTHUMG00000167264 uc001opm.3 U24231 NM_003824 CCDS8196 Q13158 "7536190|7538907" MGI:109324 RGD:628700 LRG_228|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_228.xml 602457 311122 HGNC:3573 "ENST00000301838.5|NM_003824.4" HGNC:3573 +HGNC:3574 FADS1 fatty acid desaturase 1 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "D5D|FADSD5|TU12|FADS6" "delta-5 desaturase|acyl-CoA (8-3)-desaturase" LLCDL1 "Fatty acid desaturases|MicroRNA protein coding host genes" "553|1691" 1998-07-30 2020-03-10 3992 ENSG00000149485 OTTHUMG00000157155 uc010rlm.3 NM_013402 CCDS8011 O60427 MGI:1923517 RGD:621678 606148 1.14.19.44 HGNC:3574 "ENST00000350997.12|NM_013402.7" +HGNC:3575 FADS2 fatty acid desaturase 2 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "FADSD6|D6D|TU13|DES6|SLL0262" delta-6-desaturase LLCDL2 Fatty acid desaturases 553 1998-07-30 2014-11-18 9415 ENSG00000134824 OTTHUMG00000163794 uc001nsl.3 AF084559 NM_004265 "CCDS60807|CCDS8012|CCDS60808" O95864 MGI:1930079 RGD:68339 606149 1.14.19.3 HGNC:3575 "ENST00000278840.9|NM_004265.4" +HGNC:43618 FADS2B fatty acid desaturase 2B, pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 FADS2P1 fatty acid desaturase 2 pseudogene 1 2011-12-01 2019-08-02 2019-08-02 2019-08-02 643181 ENSG00000274150 OTTHUMG00000187766 NG_032737 A8MWK0 MGI:2687041 RGD:1311224 PGOHUM00000290970 HGNC:43618 +HGNC:3576 FADS3 fatty acid desaturase 3 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 CYB5RP delta-9-desaturase LLCDL3 Fatty acid desaturases 553 1998-07-30 2016-10-05 3995 ENSG00000221968 OTTHUMG00000167500 uc001nsm.5 NM_021727 CCDS8013 Q9Y5Q0 MGI:1928740 RGD:628876 606150 470308 1.14.19.3 HGNC:3576 "ENST00000278829.7|NM_021727.5" +HGNC:30459 FADS6 fatty acid desaturase 6 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 fatty acid desaturase domain family, member 6 Fatty acid desaturases 553 2004-12-14 2013-01-25 2019-04-16 283985 ENSG00000172782 OTTHUMG00000179188 uc060jrm.1 AK094411 NM_178128 CCDS54163 Q8N9I5 MGI:3039592 RGD:1311950 HGNC:30459 "ENST00000612771.5|NM_178128.6" +HGNC:3578 FAF1 Fas associated factor 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "CGI-03|hFAF1|HFAF1s|UBXD12|UBXN3A" "TNFRSF6-associated factor 1|UBX domain protein 3A" Fas (TNFRSF6) associated factor 1 UBX domain containing 364 1999-12-10 2016-01-21 2016-01-21 11124 ENSG00000185104 OTTHUMG00000007930 uc001cse.2 AF132938 NM_007051 CCDS554 Q9UNN5 10462485 MGI:109419 RGD:70987 604460 470310 HGNC:3578 "ENST00000396153.7|NM_007051.3" +HGNC:40228 FAF1-AS1 FAF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Antisense RNAs 1987 2019-07-25 2019-07-25 105378715 ENSG00000225767 OTTHUMG00000007927 XR_001737632 HGNC:40228 +HGNC:24666 FAF2 Fas associated factor family member 2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "ETEA|KIAA0887|UBXN3B" "expressed in T cells and eosinophils in atopic dermatitis|UBX domain protein 3B" UBXD8 UBX domain containing 8 UBX domain containing 364 2006-01-06 2008-07-25 2008-07-25 2014-11-19 23197 ENSG00000113194 OTTHUMG00000163228 uc003mej.4 BC015791 NM_014613 CCDS34296 Q96CS3 "10048485|12372427" MGI:1923827 RGD:1306577 616935 HGNC:24666 "ENST00000261942.7|NM_014613.3" +HGNC:45172 FAF2P1 Fas associated factor family member 2 pseudogene 1 pseudogene pseudogene Approved 10q23.32 10q23.32 2013-03-01 2013-03-01 100128043 ENSG00000228759 OTTHUMG00000018749 NG_022153 PGOHUM00000238582 HGNC:45172 +HGNC:3579 FAH fumarylacetoacetate hydrolase protein-coding gene gene with protein product Approved 15q25.1 15q25.1 fumarylacetoacetase 1989-06-07 2016-06-10 2021-12-02 2184 ENSG00000103876 OTTHUMG00000144187 uc021srz.2 M55150 NM_000137 CCDS10314 P16930 "1998338|2336361" MGI:95482 RGD:61932 613871 121686 3.7.1.2 HGNC:3579 "ENST00000561421.6|NM_000137.4" HGNC:3579 +HGNC:14169 FAHD1 fumarylacetoacetate hydrolase domain containing 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 DKFZP566J2046 acylpyruvate hydrolase C16orf36 chromosome 16 open reading frame 36 2000-12-21 2004-08-26 2004-08-19 2014-11-19 81889 ENSG00000180185 OTTHUMG00000128663 uc002cnc.2 BC063017 NM_001018104 "CCDS45380|CCDS10448|CCDS32367" Q6P587 21878618 MGI:1915886 RGD:1304560 616320 3.7.1.5 HGNC:14169 +HGNC:24252 FAHD2A fumarylacetoacetate hydrolase domain containing 2A protein-coding gene gene with protein product Approved 2q11.1 02q11.1 CGI-105 2004-08-19 2016-10-05 51011 ENSG00000115042 OTTHUMG00000130397 uc002sut.2 AF151863 NM_016044 CCDS2014 Q96GK7 MGI:1915376 HGNC:24252 "ENST00000233379.9|NM_016044.3" +HGNC:25318 FAHD2B fumarylacetoacetate hydrolase domain containing 2B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 DKFZp434N062 2006-11-13 2015-08-27 151313 ENSG00000144199 OTTHUMG00000130533 uc002sxm.4 NM_199336 CCDS2030 Q6P2I3 MGI:1915376 RGD:1563674 HGNC:25318 "ENST00000414820.6|NM_001320848.2" +HGNC:44135 FAHD2CP fumarylacetoacetate hydrolase domain containing 2C, pseudogene pseudogene pseudogene Approved 2q11.2 02q11.2 2012-06-23 2016-10-05 729234 ENSG00000231584 OTTHUMG00000155210 NR_003698 PGOHUM00000250467 HGNC:44135 +HGNC:32441 FAHD2P1 fumarylacetoacetate hydrolase domain containing 2 pseudogene 1 pseudogene pseudogene Approved 12q15 12q15 FAHD2P fumarylacetoacetate hydrolase domain containing 2 pseudogene 2006-01-05 2011-10-07 2011-10-07 2011-10-07 729610 ENSG00000257302 OTTHUMG00000169503 AC083809 NG_006649 PGOHUM00000239850 HGNC:32441 +HGNC:18703 FAIM Fas apoptotic inhibitory molecule protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "FLJ10582|FAIM1" 2002-05-29 2016-10-05 55179 ENSG00000158234 OTTHUMG00000159885 uc003esr.4 AK001444 NM_001033032 "CCDS33865|CCDS33864|CCDS3103" Q9NVQ4 10075978 MGI:1344387 RGD:620572 617535 HGNC:18703 "ENST00000360570.8|NM_001033031.2" +HGNC:17067 FAIM2 Fas apoptotic inhibitory molecule 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "KIAA0950|LFG|NMP35|LIFEGUARD|TMBIM2|LFG2" transmembrane BAX inhibitor motif containing 2 Transmembrane BAX inhibitor motif containing 1215 2002-10-08 2016-10-05 23017 ENSG00000135472 OTTHUMG00000169808 uc001rvj.3 AB023167 NM_012306 CCDS8791 Q9BWQ8 "10231032|10535980" MGI:1919643 RGD:628744 604306 HGNC:17067 "ENST00000320634.8|NM_012306.4" +HGNC:43713 FALEC focally amplified long non-coding RNA in epithelial cancer non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 "ncRNA-a1|FAL1" focally amplified lncRNA on chromosome 1 LINC00568 long intergenic non-protein coding RNA 568 Long non-coding RNAs with non-systematic symbols 1992 2012-02-02 2014-09-17 2014-09-17 2018-07-25 100874054 ENSG00000228126 OTTHUMG00000035849 AL713297 NR_051960 "20887892|25203321|29196104" 616092 LINC00568 FALEC HGNC:43713 +HGNC:13749 FAM3A FAM3 metabolism regulating signaling molecule A protein-coding gene gene with protein product Approved Xq28 Xq28 "DXS560S|2-19|XAP-7" family with sequence similarity 3 member A 2002-06-18 2019-09-20 2020-04-02 60343 ENSG00000071889 OTTHUMG00000013418 uc004flw.4 X74610 NM_001171132 "CCDS55543|CCDS87800|CCDS76060|CCDS35453|CCDS55542" P98173 "27688071|26939760|26492522" MGI:1913544 RGD:1562076 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM3A 300492 HGNC:13749 "ENST00000447601.7|NM_021806.4" +HGNC:1253 FAM3B FAM3 metabolism regulating signaling molecule B protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "D21M16SJHU19e|PRED44|2-21|ORF9|C21orf76|PANDER" pancreatic-derived factor C21orf11 "chromosome 21 open reading frame 11|family with sequence similarity 3 member B" 2000-05-23 2002-06-20 2019-09-20 2020-09-17 54097 ENSG00000183844 OTTHUMG00000086752 uc002yzb.2 AF494379 NM_058186 "CCDS13671|CCDS42930" P58499 MGI:1270150 RGD:1311662 608617 HGNC:1253 "ENST00000357985.7|NM_058186.4" +HGNC:18664 FAM3C FAM3 metabolism regulating signaling molecule C protein-coding gene gene with protein product Approved 7q31.31 07q31.31 "GS3876|ILEI" "predicted osteoblast protein|interleukin-like EMT inducer|interleukin-like epithelial-mesenchymal transition inducer" family with sequence similarity 3 member C 2002-06-18 2019-09-20 2019-09-20 10447 ENSG00000196937 OTTHUMG00000156979 uc003vjx.4 D87120 NM_001040020 CCDS5782 Q92520 12160727 MGI:107892 RGD:735193 608618 HGNC:18664 "ENST00000359943.8|NM_014888.3" +HGNC:34501 FAM3C2P family with sequence similarity 3 member C2, pseudogene pseudogene pseudogene Approved Xp22.11 Xp22.11 FAM3C2 "family with sequence similarity 3, member C2 (pseudogene)|family with sequence similarity 3 member C2 (pseudogene)" 2008-08-05 2020-04-20 2020-04-20 2020-04-20 286460 ENSG00000174028 OTTHUMG00000021247 NG_002950 HGNC:34501 +HGNC:18665 FAM3D FAM3 metabolism regulating signaling molecule D protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "EF7|OIT1" Oncoprotein-induced transcript 1 family with sequence similarity 3 member D 2002-06-18 2019-09-20 2019-09-20 131177 ENSG00000198643 OTTHUMG00000159148 uc003dkq.4 AF494381 NM_138805 CCDS2893 Q96BQ1 "12160727|26966188" MGI:1201784 RGD:1305512 608619 HGNC:18665 "ENST00000358781.7|NM_138805.3" +HGNC:41276 FAM3D-AS1 FAM3D antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.2 03p14.2 lnc-KCTD6-3 Antisense RNAs 1987 2015-04-30 2019-07-12 105377108 ENSG00000244383 OTTHUMG00000159160 BG215913 NR_134853 "25904139|31147452" FAM3D-AS1 HGNC:41276 +HGNC:16372 FAM8A1 family with sequence similarity 8 member A1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 AHCP family with sequence similarity 8, member A1 2001-08-28 2015-11-18 2018-05-10 51439 ENSG00000137414 OTTHUMG00000014309 uc003ncc.4 AF097027 NM_016255 CCDS4540 Q9UBU6 11707071 MGI:2145496 RGD:1307845 618409 HGNC:16372 "ENST00000259963.4|NM_016255.3" +HGNC:16373 FAM8A2P family with sequence similarity 8 member A2, pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 family with sequence similarity 8, member A2 pseudogene 2001-08-28 2015-11-18 2016-09-30 728097 ENSG00000254722 OTTHUMG00000166856 AF315800 NG_009310 11707071 PGOHUM00000290503 HGNC:16373 +HGNC:16374 FAM8A3P family with sequence similarity 8 member A3, pseudogene pseudogene pseudogene Approved 2q23.2 02q23.2 family with sequence similarity 8, member A3 pseudogene 2001-08-28 2015-11-18 2016-09-30 100129594 ENSG00000224337 OTTHUMG00000153744 AF315797 NG_009311 11707071 PGOHUM00000240979 HGNC:16374 +HGNC:16375 FAM8A4P family with sequence similarity 8 member A4, pseudogene pseudogene pseudogene Approved Yq11.21 Yq11.21 FAM8A8P "family with sequence similarity 8, member A8 pseudogene|family with sequence similarity 8, member A4 pseudogene" 2001-08-28 2015-11-18 2020-04-20 386726 ENSG00000232730 OTTHUMG00000036378 AF315801 NG_003135 "11707071|12815422" PGOHUM00000233953 HGNC:16375 +HGNC:16376 FAM8A5P family with sequence similarity 8 member A5, pseudogene pseudogene pseudogene Approved 6p21 alternate reference locus 06p21 alternate reference locus family with sequence similarity 8, member A5 pseudogene 2001-08-28 2015-11-18 2016-09-30 114181 ENSG00000238101 OTTHUMG00000139003 AF315798 NG_001298 11707071 +HGNC:16377 FAM8A6P family with sequence similarity 8 member A6, pseudogene pseudogene pseudogene Approved 6q23.2 06q23.2 family with sequence similarity 8, member A6 pseudogene 2001-08-28 2015-11-18 2016-10-05 114182 ENSG00000218772 OTTHUMG00000015615 AF315799 NG_001299 11707071 PGOHUM00000243383 HGNC:16377 +HGNC:23868 FAM8A7P family with sequence similarity 8 member A7, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 family with sequence similarity 8, member A7 pseudogene 2004-01-07 2015-11-18 2016-09-30 386725 NG_003134 12815422 HGNC:23868 +HGNC:23870 FAM8A9P family with sequence similarity 8 member A9, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 family with sequence similarity 8, member A9 pseudogene 2004-01-07 2015-11-18 2016-10-05 386727 NG_003136 12815422 HGNC:23870 +HGNC:23871 FAM8A10P family with sequence similarity 8 member A10, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 family with sequence similarity 8, member A10 pseudogene 2010-02-11 2015-11-18 2016-09-30 386728 NG_003137 12815422 HGNC:23871 +HGNC:18403 FAM9A family with sequence similarity 9 member A protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 TEX39A testis expressed 39A family with sequence similarity 9, member A 2002-03-25 2015-11-18 2021-11-22 171482 ENSG00000183304 OTTHUMG00000021110 uc004csg.4 NM_174951 CCDS14131 Q8IZU1 12213195 RGD:2324027 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM9A 300477 HGNC:18403 "ENST00000381003.7|NM_174951.3" +HGNC:18404 FAM9B family with sequence similarity 9 member B protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 TEX39B testis expressed 39B family with sequence similarity 9, member B 2002-03-25 2015-11-18 2021-11-22 171483 ENSG00000177138 OTTHUMG00000021114 uc064xxo.1 NM_205849 CCDS14132 Q8IZU0 "12213195|21085121|21998597|22936694" "MGI:109505|MGI:109506|MGI:1350975|MGI:1350981|MGI:3574098|MGI:3574099|MGI:3574108|MGI:3574109" 300478 HGNC:18404 "ENST00000327220.10|NM_205849.3" +HGNC:18405 FAM9C family with sequence similarity 9 member C protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 TEX39C testis expressed 39C family with sequence similarity 9, member C 2002-03-25 2015-11-18 2021-11-22 171484 ENSG00000187268 OTTHUMG00000021143 uc004cvh.3 NM_174901 CCDS35203 Q8IZT9 23836295 "MGI:109505|MGI:109506|MGI:1350975|MGI:1350981|MGI:3047103|MGI:3574098|MGI:3574099|MGI:3574108|MGI:3574109" RGD:1559891 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM9C 300479 HGNC:18405 "ENST00000380625.8|NM_174901.6" +HGNC:55923 FAM9CP1 FAM9C pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 2021-10-15 2021-10-15 123464508 ENSG00000275194 +HGNC:19367 FAM13A family with sequence similarity 13 member A protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "KIAA0914|ARHGAP48" FAM13A1 "family with sequence similarity 13, member A1|family with sequence similarity 13, member A" Rho GTPase activating proteins 721 2002-11-15 2009-01-20 2015-11-18 2021-04-15 10144 ENSG00000138640 OTTHUMG00000161006 uc003hse.3 AB020721 NM_001015045 "CCDS34029|CCDS43251|CCDS58913|CCDS58912|CCDS58911" O94988 "25609086|26862784|32151973" MGI:1889842 RGD:1309807 613299 353231 HGNC:19367 "ENST00000264344.10|NM_014883.4" +HGNC:19370 FAM13A-AS1 FAM13A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q22.1 04q22.1 NCRNA00039 non-protein coding RNA 39 "FAM13A1OS|FAM13AOS" "FAM13A opposite strand (non-protein coding)|FAM13A antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2002-11-15 2011-08-19 2012-08-15 2012-10-12 285512 ENSG00000248019 OTTHUMG00000161035 uc003hry.1 AK126217 NR_002806 15234000 613300 FAM13A-AS1 HGNC:19370 +HGNC:1335 FAM13B family with sequence similarity 13 member B protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "N61|KHCHP|ARHGAP49" "C5orf5|FAM13B1" "chromosome 5 open reading frame 5|family with sequence similarity 13, member B1|family with sequence similarity 13, member B" Rho GTPase activating proteins 721 2000-07-21 2009-01-20 2015-11-18 2020-09-17 51306 ENSG00000031003 OTTHUMG00000129202 uc003lbz.3 AF251038 NM_001101800 "CCDS4195|CCDS47269|CCDS47270" Q9NYF5 "11087669|11161817" MGI:2447834 RGD:1310484 609371 HGNC:1335 "ENST00000689681.1|NM_001385994.1" +HGNC:55597 FAM13B-AS1 FAM13B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 Antisense RNAs 1987 2021-04-30 2021-04-30 100130172 ENSG00000246323 NR_037900 +HGNC:19371 FAM13C family with sequence similarity 13 member C protein-coding gene gene with protein product Approved 10q21.1 10q21.1 FAM13C1 "family with sequence similarity 13, member C1|family with sequence similarity 13, member C" 2002-11-15 2009-01-20 2015-11-18 2019-07-05 220965 ENSG00000148541 OTTHUMG00000018277 uc031wie.2 U79304 NM_001001971 "CCDS53538|CCDS31207|CCDS7255|CCDS86096|CCDS44406" Q8NE31 MGI:1918971 RGD:1310149 HGNC:19371 "ENST00000618804.5|NM_198215.4" +HGNC:23015 FAM20A FAM20A golgi associated secretory pathway pseudokinase protein-coding gene gene with protein product Approved 17q24.2 17q24.2 DKFZp434F2322 "family with sequence similarity 20, member A|FAM20A, golgi associated secretory pathway pseudokinase" Golgi associated kinase family 1637 2003-09-03 2019-01-25 2020-07-31 54757 ENSG00000108950 OTTHUMG00000180152 uc002jho.4 AK056789 NM_017565 CCDS11679 Q96MK3 MGI:2388266 RGD:1306364 611062 269646 HGNC:23015 "ENST00000592554.2|NM_017565.4" HGNC:23015 +HGNC:23017 FAM20B FAM20B glycosaminoglycan xylosylkinase protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "KIAA0475|GXK1" "family with sequence similarity 20, member B|FAM20B, glycosaminoglycan xylosylkinase" Golgi associated kinase family 1637 2003-09-03 2019-01-25 2020-11-17 9917 ENSG00000116199 OTTHUMG00000035073 uc001gmc.4 AB007944 NM_014864 CCDS1328 O75063 "9455484|19473117" MGI:2443990 RGD:1311162 611063 2.7.1.- HGNC:23017 "ENST00000263733.5|NM_014864.4" HGNC:23017 +HGNC:22140 FAM20C FAM20C golgi associated secretory pathway kinase protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "IMAGE:4942737|DKFZp547D065|DMP4|G-CK" "dentin matrix protein 4|golgi casein kinase" "family with sequence similarity 20, member C|FAM20C, golgi associated secretory pathway kinase" Golgi associated kinase family 1637 2003-09-03 2019-01-25 2020-07-31 56975 ENSG00000177706 OTTHUMG00000151401 uc003sip.4 BC040074 NM_020223 CCDS47522 Q8IXL6 "17369251|17924334|26324849" MGI:2136853 RGD:1311980 611061 138509 2.7.11.1 HGNC:22140 "ENST00000313766.6|NM_020223.4" HGNC:22140 +HGNC:45010 FAM21EP family with sequence similarity 21 member E, pseudogene pseudogene pseudogene Approved 10q11.23 10q11.23 FLJ31813 family with sequence similarity 21, member E, pseudogene 2013-01-07 2015-11-18 2016-09-30 100421577 ENSG00000235618 OTTHUMG00000018221 NG_025438 PGOHUM00000289861 HGNC:45010 +HGNC:45011 FAM21FP family with sequence similarity 21 member F, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 family with sequence similarity 21, member F, pseudogene 2013-01-07 2015-11-18 2016-09-30 100288690 ENSG00000237840 OTTHUMG00000018087 PGOHUM00000238448 HGNC:45011 +HGNC:23470 FAM24A family with sequence similarity 24 member A protein-coding gene gene with protein product Approved 10q26.13 10q26.13 AC073585.4 family with sequence similarity 24, member A 2004-05-27 2015-11-18 2018-11-15 118670 ENSG00000203795 OTTHUMG00000019193 uc001lgv.3 NM_001029888 CCDS31304 A6NFZ4 MGI:1915473 RGD:1560948 HGNC:23470 "ENST00000368894.2|NM_001029888.3" +HGNC:23475 FAM24B family with sequence similarity 24 member B protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "MGC45962|AC073585.2" family with sequence similarity 24, member B 2004-05-27 2015-11-18 2016-09-30 196792 ENSG00000213185 OTTHUMG00000019194 uc001lgt.4 BC031343 NM_152644 CCDS31303 Q8N5W8 12477932 MGI:1916568 HGNC:23475 "ENST00000368898.8|NM_152644.3" +HGNC:23436 FAM25A family with sequence similarity 25 member A protein-coding gene gene with protein product Approved 10q23.2 10q23.2 bA96C23.5 family with sequence similarity 25, member A 2004-05-27 2015-11-18 2016-09-30 643161 ENSG00000188100 OTTHUMG00000018664 uc010qmo.3 NM_001146157 CCDS44451 B3EWG3 MGI:1916384 RGD:1584388 HGNC:23436 "ENST00000343959.5|NM_001146157.3" +HGNC:23584 FAM25BP family with sequence similarity 25 member B, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 bA144G6.8 FAM25B "family with sequence similarity 25, member B|family with sequence similarity 25, member B, pseudogene" 2004-05-27 2014-04-11 2015-11-18 2016-09-30 100132929 ENSG00000273225 OTTHUMG00000189284 NR_104039 MGI:1916384 HGNC:23584 +HGNC:23586 FAM25C family with sequence similarity 25 member C protein-coding gene gene with protein product Approved 10q11.22 10q11.22 bA164N7.4 family with sequence similarity 25, member C 2004-05-27 2015-11-18 2016-09-30 644054 ENSG00000276430 OTTHUMG00000018130 uc010qgj.3 NM_001137548 CCDS76299 B3EWG5 MGI:1916384 HGNC:23586 "ENST00000617224.3|NM_001137548.3" +HGNC:23587 FAM25E family with sequence similarity 25 member E other unknown Approved 10q11.22 10q11.22 "AC012044.5|bA592B15.5" FAM25D "family with sequence similarity 25, member E|family with sequence similarity 25 member D|family with sequence similarity 25, member D" 2004-05-27 2015-11-18 2020-04-20 643479 ENSG00000231122 OTTHUMG00000018092 NM_001351234 A8MYX2 HGNC:23587 +HGNC:23590 FAM25G family with sequence similarity 25 member G protein-coding gene gene with protein product Approved 10q11.22 10q11.22 bA301J7.4 family with sequence similarity 25, member G 2004-05-27 2015-11-18 2016-09-30 100133093 ENSG00000189090 OTTHUMG00000018117 uc010qge.4 NM_001137549 CCDS73124 B3EWG6 MGI:1916384 HGNC:23590 "ENST00000452267.2|NM_001137549.2" +HGNC:23667 FAM27B family with sequence similarity 27 member B non-coding RNA RNA, long non-coding Approved 9q21.11 09q21.11 "bA12A20.3|FAM27A2" family with sequence similarity 27, member B Long non-coding RNAs with FAM root symbol 1993 2005-04-01 2015-11-18 2016-09-30 100133121 ENSG00000278763 OTTHUMG00000188586 NR_027422 Q5VT28 FAM27B HGNC:23667 +HGNC:23668 FAM27C family with sequence similarity 27 member C non-coding RNA RNA, long non-coding Approved 9q13 09q13 "bA374M1.5|FAM27A3|bA7G23.5|FAM27A1" FAM27A "family with sequence similarity 27, member A|family with sequence similarity 27, member C" Long non-coding RNAs with FAM root symbol 1993 2005-04-01 2015-11-18 2020-01-22 100132948 ENSG00000231527 OTTHUMG00000013240 uc064tjf.2 NR_027421 Q5VT28 FAM27C HGNC:23668 +HGNC:32015 FAM27D1 family with sequence similarity 27 member D1 non-coding RNA RNA, long non-coding Approved 9p11.2 09p11.2 OTTHUMG00000013267 family with sequence similarity 27, member D1 Long non-coding RNAs with FAM root symbol 1993 2006-06-30 2015-11-18 2018-05-16 724094 OTTHUMG00000188511 Q5T7N8 +HGNC:32013 FAM27E2 family with sequence similarity 27 member E2 non-coding RNA RNA, long non-coding Approved 9p11.2 09p11.2 FAM27E1 "family with sequence similarity 27, member E1|family with sequence similarity 27, member E2" Long non-coding RNAs with FAM root symbol 1993 2006-06-30 2015-11-18 2018-05-16 100289124 OTTHUMG00000188514 NR_103714 HGNC:32013 +HGNC:28655 FAM27E3 family with sequence similarity 27 member E3 non-coding RNA RNA, long non-coding Approved 9q21.11 09q21.11 MGC42630 family with sequence similarity 27, member E3 Long non-coding RNAs with FAM root symbol 1993 2006-06-30 2015-11-18 2016-09-30 100131997 ENSG00000274026 OTTHUMG00000188582 NR_103833 Q08E93 12477932 FAM27E3 HGNC:28655 +HGNC:44415 FAM27E4 family with sequence similarity 27 member E4 non-coding RNA RNA, long non-coding Approved 9q13 09q13 FAM27E4P "family with sequence similarity 27, member E4, pseudogene|family with sequence similarity 27, member E4" Long non-coding RNAs with FAM root symbol 1993 2012-10-05 2013-02-18 2015-11-18 2020-04-20 107987001 OTTHUMG00000184179 XR_001746484 HGNC:44415 +HGNC:32410 FAM27E5 family with sequence similarity E5 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 MGC35151 FAM27L family with sequence similarity 27-like Long non-coding RNAs with FAM root symbol 1993 2005-12-20 2016-01-13 2016-01-13 2016-09-30 284123 ENSG00000178130 OTTHUMG00000166302 uc002gyz.6 BC031617 NR_028336 FAM27E5 HGNC:32410 +HGNC:19955 FAM30A family with sequence similarity 30 member A non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 HSPC053 "C14orf110|KIAA0125" "chromosome 14 open reading frame 110|KIAA0125" Long non-coding RNAs with FAM root symbol 1993 2003-11-21 2016-07-19 2017-01-27 2019-07-12 9834 ENSG00000226777 OTTHUMG00000152318 uc032bne.1 AB019441 NR_026800 Q9NZY2 "8590280|31228314" 616623 HGNC:19955 +HGNC:31023 FAM30B family with sequence similarity 30 member B non-coding RNA RNA, long non-coding Approved 15q11.1 15q11.1 HsT16028 KIAA0125P1 KIAA0125 pseudogene 1 Long non-coding RNAs with FAM root symbol 1993 2006-01-17 2016-07-19 2017-01-27 2017-01-27 105379202 ENSG00000277988 OTTHUMG00000187844 AC021585 XR_007064785 PGOHUM00000305908 HGNC:31023 +HGNC:31024 FAM30C family with sequence similarity 30 member C non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 HsT16041 KIAA0125P2 KIAA0125 pseudogene 2 Long non-coding RNAs with FAM root symbol 1993 2006-01-17 2016-07-19 2017-01-27 2020-04-20 654499 ENSG00000259698 OTTHUMG00000172241 AC021585 NR_145444 PGOHUM00000305909 HGNC:31024 +HGNC:24563 FAM32A family with sequence similarity 32 member A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "DKFZP586O0120|OTAG-12" ovarian tumor associated gene-12 family with sequence similarity 32, member A "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2004-02-10 2015-11-18 2021-07-15 26017 ENSG00000105058 OTTHUMG00000182279 uc002ndt.4 BC000639 NM_014077 CCDS12341 Q9Y421 "30705154|21339736" MGI:1915172 RGD:1561287 614554 HGNC:24563 "ENST00000263384.12|NM_014077.4" +HGNC:30945 FAM32BP family with sequence similarity 32 member B, pseudogene pseudogene pseudogene Approved 22q11.1 22q11.1 FAM32B "family with sequence similarity 32, member B|family with sequence similarity 32, member B (pseudogene)" 2004-02-10 2015-11-19 2015-11-19 2016-09-30 399656 ENSG00000203416 OTTHUMG00000150068 NG_008703 HGNC:30945 +HGNC:34239 FAM32CP family with sequence similarity 32 member C, pseudogene pseudogene pseudogene Approved 10q22.2 10q22.2 FAM32C family with sequence similarity 32, member C (pseudogene) 2008-06-06 2015-11-19 2015-11-19 2018-05-04 645646 ENSG00000213525 OTTHUMG00000018508 NG_016627 PGOHUM00000289908 HGNC:34239 +HGNC:34240 FAM32DP family with sequence similarity 32 member D, pseudogene pseudogene pseudogene Approved 18q22.1 18q22.1 FAM32D family with sequence similarity 32, member D (pseudogene) 2008-06-06 2015-11-19 2015-11-19 2020-04-06 100190955 ENSG00000265472 OTTHUMG00000178541 NG_008713 PGOHUM00000294685 HGNC:34240 +HGNC:34241 FAM32EP family with sequence similarity 32 member E, pseudogene pseudogene pseudogene Approved 12q24.32 12q24.32 FAM32E family with sequence similarity 32, member E (pseudogene) 2008-06-06 2015-11-19 2015-11-19 2020-04-06 100190956 ENSG00000256125 OTTHUMG00000168470 NG_008714 PGOHUM00000291490 HGNC:34241 +HGNC:23955 FAM41AY1 family with sequence similarity 41 member A, Y-linked 1 non-coding RNA RNA, long non-coding Approved Yq11.222 Yq11.222 FAM41AY "family with sequence similarity 41, member A, Y-linked|family with sequence similarity 41, member A, Y-linked 1" Long non-coding RNAs with FAM root symbol 1993 2004-06-02 2009-07-20 2015-11-19 2016-10-05 340618 ENSG00000224989 OTTHUMG00000041970 uc065csq.1 BC042981 NR_028083 12477932 HGNC:23955 +HGNC:37135 FAM41AY2 family with sequence similarity 41 member A, Y-linked 2 non-coding RNA RNA, long non-coding Approved Yq11.222 Yq11.222 family with sequence similarity 41, member A, Y-linked 2 Long non-coding RNAs with FAM root symbol 1993 2009-07-20 2015-11-19 2016-09-30 100302526 ENSG00000226362 OTTHUMG00000041973 uc065ctf.1 NR_028084 HGNC:37135 +HGNC:27635 FAM41C family with sequence similarity 41 member C non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 family with sequence similarity 41, member C Long non-coding RNAs with FAM root symbol 1993 2004-06-02 2011-08-31 2015-11-18 2016-09-30 284593 ENSG00000230368 OTTHUMG00000002469 uc001abt.5 BC047940 NR_027055 12477932 FAM41C HGNC:27635 +HGNC:26888 FAM43A family with sequence similarity 43 member A protein-coding gene gene with protein product Approved 3q29 03q29 FLJ90022 family with sequence similarity 43, member A 2004-07-28 2015-11-18 2016-09-30 131583 ENSG00000185112 OTTHUMG00000156016 uc003fuj.4 AK074503 NM_153690 CCDS33923 Q8N2R8 12477932 MGI:2676309 RGD:1304790 HGNC:26888 "ENST00000329759.6|NM_153690.5" +HGNC:31791 FAM43B family with sequence similarity 43 member B protein-coding gene gene with protein product Approved 1p36.12 01p36.12 FLJ44952 family with sequence similarity 43, member B 2004-07-28 2015-11-18 2016-09-30 163933 ENSG00000183114 OTTHUMG00000057491 uc001bdj.4 AK126900 NM_207334 CCDS209 Q6ZT52 21461611 MGI:3651622 RGD:1560959 HGNC:31791 "ENST00000332947.6|NM_207334.3" +HGNC:29962 FAM47A family with sequence similarity 47 member A protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 MGC27003 similar to hypothetical protein FLJ35782 family with sequence similarity 47, member A 2004-08-09 2015-11-18 2020-04-02 158724 ENSG00000185448 OTTHUMG00000021339 uc004ddg.4 BC026171 NM_203408 CCDS43926 Q5JRC9 12477932 MGI:1918114 RGD:2324262 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM47A HGNC:29962 "ENST00000346193.5|NM_203408.4" +HGNC:26659 FAM47B family with sequence similarity 47 member B protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 FLJ35782 family with sequence similarity 47, member B 2004-08-09 2015-11-18 2020-04-02 170062 ENSG00000189132 OTTHUMG00000021345 uc004ddi.3 BC035026 NM_152631 CCDS14236 Q8NA70 14702039 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM47B HGNC:26659 "ENST00000329357.6|NM_152631.3" +HGNC:25301 FAM47C family with sequence similarity 47 member C protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 family with sequence similarity 47, member C 2006-07-04 2015-11-18 2020-04-02 442444 ENSG00000198173 OTTHUMG00000024025 uc004ddl.3 AK125992 NM_001013736 CCDS35227 Q5HY64 30922974 MGI:1918114 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM47C 301067 HGNC:25301 "ENST00000358047.5|NM_001013736.3" HGNC:25301 +HGNC:34342 FAM47DP family with sequence similarity 47 member D, pseudogene pseudogene pseudogene Approved Xp21.1 Xp21.1 family with sequence similarity 47, member D, pseudogene 2008-07-02 2015-11-18 2016-09-30 139249 ENSG00000174678 OTTHUMG00000033174 AL627244 NG_008058 A6NHR8 PGOHUM00000241236 HGNC:34342 +HGNC:34343 FAM47E family with sequence similarity 47 member E protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "FLJ42946|LOC100129583" similar to genethonin 1 family with sequence similarity 47, member E 2008-07-02 2015-11-18 2021-01-25 100129583 ENSG00000189157 OTTHUMG00000185390 uc003hjx.4 "AC034139|AK124936|CR591456|CR627383" NM_001136570 "CCDS58907|CCDS47081" Q6ZV65 33376131 MGI:2686227 RGD:1585459 HGNC:34343 "ENST00000424749.7|NM_001136570.3" +HGNC:44667 FAM47E-STBD1 FAM47E-STBD1 readthrough other readthrough Approved 4q21.1 04q21.1 2013-04-23 2015-08-03 100631383 ENSG00000272414 OTTHUMG00000160966 uc003hjy.4 NM_001242939 MGI:2686227 HGNC:44667 +HGNC:18786 FAM50A family with sequence similarity 50 member A protein-coding gene gene with protein product Approved Xq28 Xq28 "DXS9928E|XAP5|HXC-26|9F" DNA segment on chromosome X (unique) 9928 expressed sequence family with sequence similarity 50, member A "Spliceosomal C complex|Spliceosomal P complex|MicroRNA protein coding host genes" "1510|1516|1691" 2004-10-06 2015-11-18 2022-01-14 9130 ENSG00000071859 OTTHUMG00000033292 uc004fll.4 BC000028 NM_004699 CCDS14751 Q14320 "28574578|32703943|33498634" MGI:1351626 RGD:1560964 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM50A 300453 HGNC:18786 "ENST00000393600.8|NM_004699.4" HGNC:18786 +HGNC:18789 FAM50B family with sequence similarity 50 member B protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "D6S2654E|X5L" XAP5 like family with sequence similarity 50, member B 2004-10-06 2015-11-18 2021-04-13 26240 ENSG00000145945 OTTHUMG00000014147 uc063lni.1 Y18504 NM_012135 CCDS4487 Q9Y247 10534398 MGI:1351640 RGD:1563458 LRG_1062|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1062.xml 614686 HGNC:18789 "ENST00000648326.1|NM_012135.3" +HGNC:31860 FAM53A family with sequence similarity 53 member A protein-coding gene gene with protein product Approved 4p16.3 04p16.3 DNTNP dorsal neural tube nuclear protein family with sequence similarity 53, member A 2005-06-17 2015-11-18 2018-04-09 152877 ENSG00000174137 OTTHUMG00000159855 uc021xkl.1 BC070112 NM_001013622 "CCDS33939|CCDS75091" Q6NSI3 MGI:1919225 RGD:1563315 617229 HGNC:31860 "ENST00000308132.11|NM_001174070.3" +HGNC:28968 FAM53B family with sequence similarity 53 member B protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "bA12J10.2|smp" simplet homolog (zebrafish) KIAA0140 "KIAA0140|family with sequence similarity 53, member B" 2004-03-16 2004-11-24 2015-11-18 2017-01-20 9679 ENSG00000189319 OTTHUMG00000019215 uc001lhv.2 D50930 NM_014661 CCDS7641 Q14153 "16611694|25183871" MGI:1925188 RGD:1310799 617289 HGNC:28968 "ENST00000337318.8|NM_014661.4" +HGNC:49499 FAM53B-AS1 FAM53B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.13 10q26.13 Antisense RNAs 1987 2013-12-20 2013-12-20 101927944 ENSG00000233334 OTTHUMG00000019216 "BI457689|AA620732|AI470835" XR_246199 FAM53B-AS1 HGNC:49499 +HGNC:1336 FAM53C family with sequence similarity 53 member C protein-coding gene gene with protein product Approved 5q31.2 05q31.2 C5orf6 "chromosome 5 open reading frame 6|family with sequence similarity 53, member C" 2000-07-21 2004-11-26 2015-11-18 2020-09-17 51307 ENSG00000120709 OTTHUMG00000129201 uc003lcw.4 AF251040 NM_016605 CCDS4204 Q9NYF3 "11087669|11161817" MGI:1913556 RGD:1593851 609372 HGNC:1336 "ENST00000239906.10|NM_016605.3" +HGNC:30444 FAM66A family with sequence similarity 66 member A non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 family with sequence similarity 66, member A Long non-coding RNAs with FAM root symbol 1993 2005-04-28 2015-11-18 2016-09-30 100133172 ENSG00000227888 OTTHUMG00000165458 uc064kjo.1 NR_026789 HGNC:30444 +HGNC:28890 FAM66B family with sequence similarity 66 member B non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 family with sequence similarity 66, member B Long non-coding RNAs with FAM root symbol 1993 2005-04-28 2015-11-18 2016-09-30 100128890 ENSG00000215374 OTTHUMG00000165383 uc011kwo.1 NR_027423 FAM66B HGNC:28890 +HGNC:21644 FAM66C family with sequence similarity 66 member C non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 family with sequence similarity 66, member C Long non-coding RNAs with FAM root symbol 1993 2005-04-28 2015-11-18 2016-09-30 440078 ENSG00000226711 OTTHUMG00000168638 uc058kvt.1 NR_026788 FAM66C HGNC:21644 +HGNC:24159 FAM66D family with sequence similarity 66 member D non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 family with sequence similarity 66, member D Long non-coding RNAs with FAM root symbol 1993 2005-04-28 2015-11-18 2016-09-30 100132923 ENSG00000255052 OTTHUMG00000165269 uc064kis.1 NR_027425 HGNC:24159 +HGNC:18735 FAM66E family with sequence similarity 66 member E non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 family with sequence similarity 66, member E Long non-coding RNAs with FAM root symbol 1993 2005-04-28 2015-11-18 2016-09-30 100132103 ENSG00000225725 OTTHUMG00000165403 uc011kws.2 NR_027424 P0C841 FAM66E HGNC:18735 +HGNC:24044 FAM72A family with sequence similarity 72 member A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "MGC57827|RP11-312O7.1|UGENE|LMPIP|p17" LMP1-induced protein family with sequence similarity 72, member A 2005-06-03 2015-11-18 2021-04-12 729533 ENSG00000196550 OTTHUMG00000042552 uc001hdr.5 CR407567 NM_001123168 "CCDS73016|CCDS81420" Q5TYM5 "26206078|21317926|18676834|30685845" MGI:1919669 RGD:1598023 614710 HGNC:24044 "ENST00000367128.8|NM_001123168.3" +HGNC:24805 FAM72B family with sequence similarity 72 member B protein-coding gene gene with protein product Approved 1p11.2 01p11.2 RP11-439A17.6 family with sequence similarity 72, member B 2005-06-03 2015-11-18 2021-03-25 653820 ENSG00000188610 OTTHUMG00000185025 uc031upy.2 AL357493 NM_001100910 "CCDS81362|CCDS72848" Q86X60 "26206078|19755123" MGI:1919669 614711 HGNC:24805 "ENST00000369390.7|NM_001100910.2" +HGNC:30602 FAM72C family with sequence similarity 72 member C protein-coding gene gene with protein product Approved 1q21.1 01q21.1 RP5-998N21.9 family with sequence similarity 72, member C 2005-06-03 2015-11-18 2021-03-25 554282 ENSG00000263513 OTTHUMG00000041029 uc031uqs.2 AL109948 NM_001287385 "CCDS72850|CCDS86008" H0Y354 26206078 MGI:1919669 616853 HGNC:30602 "ENST00000584486.6|NM_001287385.2" +HGNC:33593 FAM72D family with sequence similarity 72 member D protein-coding gene gene with protein product Approved 1q21.1 01q21.1 family with sequence similarity 72, member D 2007-08-09 2015-11-18 2021-03-25 728833 ENSG00000215784 OTTHUMG00000074801 uc031ury.2 CR589924 NM_207418 CCDS72855 Q6L9T8 26206078 MGI:1919669 614712 HGNC:33593 "ENST00000400889.3|NM_207418.3" +HGNC:32029 FAM74A1 family with sequence similarity 74 member A1 non-coding RNA RNA, long non-coding Approved 9p12 09p12 FAM74A5 "family with sequence similarity 74, member A5|family with sequence similarity 74, member A1" Long non-coding RNAs with FAM root symbol 1993 2006-06-30 2015-11-18 2016-09-30 401507 ENSG00000215112 OTTHUMG00000067121 uc033crc.2 NR_026803 Q5RGS3 FAM74A1 HGNC:32029 +HGNC:32031 FAM74A3 family with sequence similarity 74 member A3 non-coding RNA RNA, long non-coding Approved 9q21.11 09q21.11 OTTHUMG00000067149 family with sequence similarity 74, member A3 Long non-coding RNAs with FAM root symbol 1993 2006-06-30 2015-11-18 2016-09-30 728495 ENSG00000274355 OTTHUMG00000188258 NR_026801 Q4VXF1 FAM74A3 HGNC:32031 +HGNC:32032 FAM74A4 family with sequence similarity 74 member A4 non-coding RNA RNA, long non-coding Approved 9q12 09q12 FLJ45202 FAM74A2 "family with sequence similarity 74, member A4|family with sequence similarity 74 member A2|family with sequence similarity 74, member A2" Long non-coding RNAs with FAM root symbol 1993 2006-06-30 2015-11-18 2017-03-29 401508 ENSG00000274583 OTTHUMG00000188539 NR_026802 Q5TZK3 FAM74A4 HGNC:32032 +HGNC:34036 FAM74A6 family with sequence similarity 74 member A6 non-coding RNA RNA, long non-coding Approved 9q12 09q12 family with sequence similarity 74, member A6 Long non-coding RNAs with FAM root symbol 1993 2008-03-28 2015-11-18 2016-09-30 653123 ENSG00000274516 OTTHUMG00000188291 uc004abw.2 NG_009678.1 Q5TZK3 FAM74A6 HGNC:34036 +HGNC:34037 FAM74A7 family with sequence similarity 74 member A7 non-coding RNA RNA, long non-coding Approved 9p11.2-p11.1 09p11.2-p11.1 "family with sequence similarity 74, member A7, pseudogene|family with sequence similarity 74, member A7" Long non-coding RNAs with FAM root symbol 1993 2008-03-28 2015-11-18 2020-04-20 100996582 ENSG00000277260 OTTHUMG00000187514 uc064tia.1 XR_078406 A6NL05 HGNC:34037 +HGNC:28530 FAM76A family with sequence similarity 76 member A protein-coding gene gene with protein product Approved 1p35.3 01p35.3 MGC34648 family with sequence similarity 76, member A 2005-08-15 2015-11-18 2016-09-30 199870 ENSG00000009780 OTTHUMG00000003729 uc001boq.4 AK098318 NM_152660 "CCDS44094|CCDS309|CCDS44095|CCDS44093|CCDS44092" Q8TAV0 MGI:2385211 RGD:1305162 HGNC:28530 "ENST00000373954.11|NM_152660.3" +HGNC:28492 FAM76B family with sequence similarity 76 member B protein-coding gene gene with protein product Approved 11q21 11q21 MGC33371 family with sequence similarity 76, member B 2005-08-15 2015-11-18 2017-11-28 143684 ENSG00000077458 OTTHUMG00000167739 uc001pfn.3 NM_144664 "CCDS41700|CCDS81619" Q5HYJ3 27018871 MGI:1920076 RGD:1311077 HGNC:28492 "ENST00000358780.10|NM_144664.5" +HGNC:25465 FAM78A family with sequence similarity 78 member A protein-coding gene gene with protein product Approved 9q34.13 09q34.13 FLJ00024 C9orf59 "chromosome 9 open reading frame 59|family with sequence similarity 78, member A" 2004-01-06 2005-07-18 2015-11-18 2016-10-05 286336 ENSG00000126882 OTTHUMG00000020821 uc004cak.4 AK095423 NM_033387 CCDS6941 Q5JUQ0 11214971 MGI:2443569 RGD:1566351 HGNC:25465 "ENST00000372271.4|NM_033387.4" +HGNC:13495 FAM78B family with sequence similarity 78 member B protein-coding gene gene with protein product Approved 1q24.1 01q24.1 family with sequence similarity 78, member B MicroRNA protein coding host genes 1691 2005-07-18 2015-11-18 2016-09-30 149297 ENSG00000188859 OTTHUMG00000034705 uc057mzx.1 AL626787 NM_001017961 CCDS30931 Q5VT40 MGI:2443050 RGD:1564387 HGNC:13495 "ENST00000354422.4|NM_001017961.5" +HGNC:40639 FAM78B-AS1 FAM78B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q24.1 01q24.1 Antisense RNAs 1987 2019-07-25 2019-07-25 105371586 ENSG00000203307 OTTHUMG00000156135 XR_007066708 HGNC:40639 +HGNC:28379 FAM81A family with sequence similarity 81 member A protein-coding gene gene with protein product Approved 15q22.2 15q22.2 MGC26690 family with sequence similarity 81, member A 2005-10-21 2015-11-18 2019-02-11 145773 ENSG00000157470 OTTHUMG00000171915 uc002agc.3 NM_152450 CCDS45269 Q8TBF8 30735723 MGI:1924136 RGD:1311958 HGNC:28379 "ENST00000288228.10|NM_152450.3" +HGNC:26335 FAM81B family with sequence similarity 81 member B protein-coding gene gene with protein product Approved 5q15 05q15 FLJ25333 family with sequence similarity 81, member B 2005-07-25 2015-11-18 2016-09-30 153643 ENSG00000153347 OTTHUMG00000162837 uc003kla.2 NM_152548 CCDS43341 Q96LP2 MGI:2685122 RGD:1561830 HGNC:26335 "ENST00000283357.10|NM_152548.3" +HGNC:28210 FAM83A family with sequence similarity 83 member A protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MGC14128|BJ-TSA-9" family with sequence similarity 83, member A Family with sequence similarity 83 1814 2005-07-27 2015-11-18 2018-08-20 84985 ENSG00000147689 OTTHUMG00000165083 uc003ypv.5 BC052300 NM_032899 "CCDS75784|CCDS6339|CCDS6340" Q86UY5 22886303 MGI:2447773 RGD:1565606 HGNC:28210 +HGNC:48658 FAM83A-AS1 FAM83A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 HCCC11 Antisense RNAs 1987 2013-06-03 2013-06-03 100131726 ENSG00000204949 OTTHUMG00000165086 AY211907 NR_024479 FAM83A-AS1 HGNC:48658 +HGNC:21357 FAM83B family with sequence similarity 83 member B protein-coding gene gene with protein product Approved 6p12.1 06p12.1 FLJ30642 C6orf143 "chromosome 6 open reading frame 143|family with sequence similarity 83, member B" Family with sequence similarity 83 1814 2003-06-09 2006-03-23 2015-11-18 2018-11-15 222584 ENSG00000168143 OTTHUMG00000014899 uc003pck.5 AK055204 NM_001010872 CCDS34479 Q5T0W9 22886302 MGI:2685362 RGD:1311988 HGNC:21357 "ENST00000306858.8|NM_001010872.3" +HGNC:16121 FAM83C family with sequence similarity 83 member C protein-coding gene gene with protein product Approved 20q11.22 20q11.22 dJ614O4.7 C20orf128 "chromosome 20 open reading frame 128|family with sequence similarity 83, member C" Family with sequence similarity 83 1814 2001-07-17 2006-03-23 2015-11-18 2018-08-20 128876 ENSG00000125998 OTTHUMG00000032332 uc021wck.2 AL121753 NM_178468 CCDS13251 Q9BQN1 MGI:1918655 RGD:1585687 HGNC:16121 "ENST00000374408.4|NM_178468.6" +HGNC:16113 FAM83C-AS1 FAM83C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 dJ614O4.3 "C20orf120|NCRNA00154" "chromosome 20 open reading frame 120|non-protein coding RNA 154|FAM83C antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2001-07-17 2011-08-11 2012-08-15 2012-10-12 140846 ENSG00000235214 OTTHUMG00000032327 uc032phx.2 AL121753 NR_109815 FAM83C-AS1 HGNC:16113 +HGNC:16122 FAM83D family with sequence similarity 83 member D protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "dJ616B8.3|CHICA" C20orf129 "chromosome 20 open reading frame 129|family with sequence similarity 83, member D" Family with sequence similarity 83 1814 2001-07-17 2006-03-23 2015-11-18 2018-08-20 81610 ENSG00000101447 OTTHUMG00000032462 uc061wzh.1 AL023803 NM_030919 CCDS42872 Q9H4H8 "23205133|18485706" MGI:1919128 RGD:1565583 618380 HGNC:16122 "ENST00000619850.2|NM_030919.3" +HGNC:25972 FAM83E family with sequence similarity 83 member E protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FLJ20200 family with sequence similarity 83, member E Family with sequence similarity 83 1814 2005-07-27 2015-11-18 2018-08-20 54854 ENSG00000105523 OTTHUMG00000183315 uc002pjn.3 AK000207 NM_017708 CCDS42587 Q2M2I3 MGI:1921063 RGD:1309316 HGNC:25972 "ENST00000263266.4|NM_017708.4" +HGNC:25148 FAM83F family with sequence similarity 83 member F protein-coding gene gene with protein product Approved 22q13.1 22q13.1 family with sequence similarity 83, member F Family with sequence similarity 83 1814 2005-07-27 2015-11-18 2019-02-20 113828 ENSG00000133477 OTTHUMG00000150688 uc021wqa.2 NM_138435 CCDS14000 Q8NEG4 30692643 MGI:2146227 RGD:1562089 HGNC:25148 "ENST00000333407.11|NM_138435.4" +HGNC:32554 FAM83G family with sequence similarity 83 member G protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLJ41564|PAWS1" protein associated with SMAD1 family with sequence similarity 83, member G Family with sequence similarity 83 1814 2006-03-22 2015-11-18 2018-08-20 644815 ENSG00000188522 OTTHUMG00000059411 uc002guw.4 AK123558 NM_001039999 CCDS42276 A6ND36 "24554596|23656696" MGI:1916890 RGD:2322345 615886 HGNC:32554 "ENST00000388995.11|NM_001039999.3" +HGNC:24797 FAM83H family with sequence similarity 83 member H protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ46072 family with sequence similarity 83, member H "MicroRNA protein coding host genes|Family with sequence similarity 83 " "1691|1814" 2006-03-23 2015-11-18 2018-08-20 286077 ENSG00000180921 OTTHUMG00000133559 uc064rej.1 AK127960 NM_198488 CCDS6410 Q6ZRV2 "18252228|27681590" MGI:2145900 RGD:1305866 611927 139802 HGNC:24797 "ENST00000388913.4|NM_198488.5" HGNC:24797 +HGNC:17606 FAM85A family with sequence similarity 85 member A non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 family with sequence similarity 85, member A Long non-coding RNAs with FAM root symbol 1993 2005-10-05 2015-11-18 2019-03-06 619423 CR620525 NR_146925 HGNC:17606 +HGNC:32160 FAM85B family with sequence similarity 85 member B non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 lncRNA-HEIM lncRNA Highly Expressed In Monocytes family with sequence similarity 85, member B Long non-coding RNAs with FAM root symbol 1993 2005-10-05 2015-11-18 2021-07-20 105379219 ENSG00000253893 OTTHUMG00000163729 uc064kbs.1 CD106111 NR_147089 34168644 HGNC:32160 +HGNC:28268 FAM86B1 family with sequence similarity 86 member B1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 MGC16279 family with sequence similarity 86, member B1 2005-08-19 2015-11-18 2017-02-01 85002 ENSG00000186523 OTTHUMG00000165298 uc010lse.4 BC007983 NM_032916 CCDS59512 Q8N7N1 12477932 MGI:1917761 616122 HGNC:28268 "ENST00000448228.7|NM_001083537.4" +HGNC:32222 FAM86B2 family with sequence similarity 86 member B2 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 family with sequence similarity 86, member B2 2005-10-04 2015-11-18 2018-11-15 653333 ENSG00000145002 OTTHUMG00000165462 uc003wvt.5 NM_001137610 CCDS59092 P0C5J1 MGI:1917761 616123 HGNC:32222 "ENST00000262365.9|NM_001137610.3" +HGNC:48726 FAM86B2-DT FAM86B2 divergent transcript non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Divergent transcripts 1990 2022-01-12 2022-01-12 100506990 NR_040091 +HGNC:44371 FAM86B3P family with sequence similarity 86 member B3, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 family with sequence similarity 86, member B3, pseudogene 2012-09-13 2015-11-18 2016-09-30 286042 ENSG00000173295 OTTHUMG00000163669 NR_024361 PGOHUM00000264401 HGNC:44371 +HGNC:25561 FAM86C1P family with sequence similarity 86 member C1, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 "FLJ10661|FLJ27199" "FAM86C|FAM86C1" family with sequence similarity 86 member C1 2006-03-09 2020-03-12 2020-03-12 2021-10-07 55199 ENSG00000158483 OTTHUMG00000160552 uc001oqw.5 AK130709 XR_004643250 "CCDS8202|CCDS41686|CCDS44664" Q9NVL1 12477932 MGI:1917761 616124 HGNC:25561 +HGNC:42392 FAM86C2P family with sequence similarity 86 member C2, pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 family with sequence similarity 86, member C2, pseudogene 2011-07-07 2015-11-18 2016-09-30 645332 ENSG00000160172 OTTHUMG00000167222 NR_024249 A6NEL3 PGOHUM00000257838 HGNC:42392 +HGNC:32659 FAM86DP family with sequence similarity 86 member D, pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 FAM86D "family with sequence similarity 86, member D|family with sequence similarity 86, member D, pseudogene" 2006-05-02 2010-06-04 2015-11-18 2016-09-30 692099 ENSG00000244026 OTTHUMG00000158855 BC016686 NR_024241 HGNC:32659 +HGNC:28017 FAM86EP family with sequence similarity 86 member E, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 family with sequence similarity 86, member E, pseudogene 2011-07-01 2015-11-18 2016-09-30 348926 ENSG00000251669 OTTHUMG00000159867 NR_130740 12477932 PGOHUM00000250694 HGNC:28017 +HGNC:42357 FAM86FP family with sequence similarity 86 member F, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 family with sequence similarity 86, member F, pseudogene 2011-07-01 2015-11-18 2016-09-30 653113 ENSG00000164845 OTTHUMG00000168639 NR_024254 PGOHUM00000239316 HGNC:42357 +HGNC:42358 FAM86GP family with sequence similarity 86 member G, pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 family with sequence similarity 86, member G, pseudogene 2011-07-01 2015-11-18 2016-09-30 387745 ENSG00000166492 OTTHUMG00000036109 NG_008770 PGOHUM00000242119 HGNC:42358 +HGNC:42359 FAM86HP family with sequence similarity 86 member H, pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 family with sequence similarity 86, member H, pseudogene 2011-07-01 2015-11-18 2016-09-30 729375 ENSG00000253540 OTTHUMG00000159796 NR_024252 PGOHUM00000250256 HGNC:42359 +HGNC:44097 FAM86JP family with sequence similarity 86 member J, pseudogene pseudogene pseudogene Approved 3q21.2 03q21.2 family with sequence similarity 86, member J, pseudogene 2012-06-22 2015-11-18 2016-09-30 100125556 ENSG00000171084 OTTHUMG00000159586 NR_024251 Q05BU3 PGOHUM00000250299 HGNC:44097 +HGNC:44098 FAM86KP family with sequence similarity 86 member K, pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 family with sequence similarity 86, member K, pseudogene 2012-06-28 2015-11-18 2016-09-30 100287013 ENSG00000163612 OTTHUMG00000160154 NG_052637 PGOHUM00000250752 HGNC:44098 +HGNC:44099 FAM86LP family with sequence similarity 86 member L, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 family with sequence similarity 86, member L, pseudogene 2012-06-28 2015-11-18 2016-09-30 641924 ENSG00000242731 OTTHUMG00000158493 NG_006619 PGOHUM00000263516 HGNC:44099 +HGNC:44100 FAM86MP family with sequence similarity 86 member M, pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 family with sequence similarity 86, member M, pseudogene 2012-06-28 2015-11-18 2016-09-30 644517 ENSG00000186234 OTTHUMG00000160252 NG_008782 PGOHUM00000263503 HGNC:44100 +HGNC:27233 FAM87A family with sequence similarity 87 member A non-coding RNA RNA, long non-coding Approved 8p23.3 08p23.3 family with sequence similarity 87, member A Long non-coding RNAs with FAM root symbol 1993 2005-09-05 2015-11-18 2018-02-07 157693 ENSG00000182366 OTTHUMG00000165513 uc033azq.1 BC037297 NR_103537 P0C7U9 12477932 HGNC:27233 +HGNC:32236 FAM87B family with sequence similarity 87 member B non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 FLJ40008 family with sequence similarity 87, member B Long non-coding RNAs with FAM root symbol 1993 2005-09-05 2015-11-18 2016-09-30 400728 ENSG00000177757 OTTHUMG00000002471 uc031tlt.2 AK097327 NR_103536 HGNC:32236 +HGNC:31457 FAM88B family with sequence similarity 88 member B non-coding RNA RNA, long non-coding Approved 9q12 09q12 Long non-coding RNAs with FAM root symbol 1993 2022-01-13 2022-01-13 728673 ENSG00000170161 OTTHUMG00000013294 NR_126047 +HGNC:56159 FAM88C family with sequence similarity 88 member C non-coding RNA RNA, long non-coding Approved 9q13 09q13 Long non-coding RNAs with FAM root symbol 1993 2022-01-13 2022-01-13 102724238 ENSG00000204802 NR_126048 +HGNC:56160 FAM88D family with sequence similarity 88 member D non-coding RNA RNA, long non-coding Approved Long non-coding RNAs with FAM root symbol 1993 2022-01-13 2022-01-13 554249 NR_126049 +HGNC:56161 FAM88E family with sequence similarity 88 member E non-coding RNA RNA, long non-coding Approved 9p11.1 09p11.1 Long non-coding RNAs with FAM root symbol 1993 2022-01-13 2022-01-13 103908605 ENSG00000237357 NR_126050 +HGNC:56162 FAM88F family with sequence similarity 88 member F non-coding RNA RNA, long non-coding Approved 9q13 09q13 Long non-coding RNAs with FAM root symbol 1993 2022-01-13 2022-01-13 103908604 ENSG00000226007 NR_147619 +HGNC:25057 FAM89A family with sequence similarity 89 member A protein-coding gene gene with protein product Approved 1q42.2 01q42.2 MGC15887 C1orf153 "chromosome 1 open reading frame 153|family with sequence similarity 89, member A" MicroRNA protein coding host genes 1691 2005-07-14 2005-09-13 2015-11-18 2016-09-30 375061 ENSG00000182118 OTTHUMG00000037960 uc001hui.3 BC009447 NM_198552 CCDS1590 Q96GI7 12477932 MGI:1916877 RGD:1309879 HGNC:25057 "ENST00000366654.5|NM_198552.3" +HGNC:16708 FAM89B family with sequence similarity 89 member B protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "MTVR1|LRAP25" "Mammary Tumor Virus Receptor Homolog 1|leucine repeat adaptor protein 25" family with sequence similarity 89, member B 2005-09-13 2015-11-18 2018-05-10 23625 ENSG00000176973 OTTHUMG00000166499 uc001oem.2 AF052151 NM_152832 "CCDS8105|CCDS53662|CCDS44648" Q8N5H3 "9525630|10512749|25107909" MGI:106595 RGD:1311544 616128 HGNC:16708 "ENST00000530349.2|NM_001098785.2" +HGNC:25526 FAM90A1 family with sequence similarity 90 member A1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 FLJ10408 family with sequence similarity 90, member A1 2005-09-27 2005-11-20 2015-11-18 2017-07-11 55138 ENSG00000171847 OTTHUMG00000168641 uc001qui.3 AK001270 NM_018088 CCDS31738 Q86YD7 "MGI:1921682|MGI:2142877" RGD:2318111 613041 HGNC:25526 "ENST00000538603.6|NM_018088.3" +HGNC:32250 FAM90A2P family with sequence similarity 90 member A2, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 family with sequence similarity 90, member A2, pseudogene 2005-09-27 2005-11-20 2015-11-18 2016-09-30 729689 ENSG00000205879 OTTHUMG00000165297 NR_046354 Q658T7 PGOHUM00000258332 HGNC:32250 +HGNC:32251 FAM90A3P family with sequence similarity 90 member A3, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 FAM90A3 "family with sequence similarity 90, member A3|family with sequence similarity 90, member A3, pseudogene" 2005-10-04 2012-02-21 2015-11-18 2016-11-09 389611 ENSG00000233132 OTTHUMG00000160359 NG_032074 613042 PGOHUM00000303414 HGNC:32251 +HGNC:32252 FAM90A4P family with sequence similarity 90 member A4, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 FAM90A4 "family with sequence similarity 90, member A4|family with sequence similarity 90, member A4, pseudogene" 2005-10-04 2007-04-04 2015-11-18 2016-09-30 441313 ENSG00000249005 OTTHUMG00000160358 NG_006005 PGOHUM00000250019 HGNC:32252 +HGNC:32253 FAM90A5P family with sequence similarity 90 member A5, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 FAM90A5 "family with sequence similarity 90, member A5|family with sequence similarity 90, member A5, pseudogene" 2005-10-04 2012-02-21 2015-11-18 2016-09-30 441315 ENSG00000215373 OTTHUMG00000165213 NG_032077 A8MXJ8 MGI:1921682 613043 PGOHUM00000258352 HGNC:32253 +HGNC:32254 FAM90A6P family with sequence similarity 90 member A6, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 family with sequence similarity 90, member A6, pseudogene 2005-10-04 2015-11-18 2016-09-30 389618 ENSG00000248944 OTTHUMG00000150266 NG_006009 PGOHUM00000258313 HGNC:32254 +HGNC:32255 FAM90A7 family with sequence similarity 90 member A7 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A7P "family with sequence similarity 90, member A7|family with sequence similarity 90, member A7, pseudogene|family with sequence similarity 90 member A7, pseudogene" 2005-10-04 2021-11-15 2021-11-15 2021-11-15 441317 ENSG00000285975 OTTHUMG00000150263 NM_001397387 A6NKC0 MGI:1921682 613044 PGOHUM00000303059 HGNC:32255 +HGNC:32256 FAM90A8 family with sequence similarity 90 member A8 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A8P "family with sequence similarity 90, member A8|family with sequence similarity 90, member A8, pseudogene|family with sequence similarity 90 member A8, pseudogene" 2005-10-04 2021-11-15 2021-11-15 2021-11-15 441324 ENSG00000285937 OTTHUMG00000165393 NM_001164450 A6NJQ4 MGI:1921682 613045 PGOHUM00000258363 HGNC:32256 +HGNC:32257 FAM90A9 family with sequence similarity 90 member A9 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A9P "family with sequence similarity 90, member A9|family with sequence similarity 90, member A9, pseudogene|family with sequence similarity 90 member A9, pseudogene" 2005-10-04 2021-11-15 2021-11-15 2021-11-15 441327 ENSG00000285607 OTTHUMG00000165396 NM_001164448 A6NNJ1 MGI:1921682 613046 PGOHUM00000258366 HGNC:32257 +HGNC:32258 FAM90A10 family with sequence similarity 90 member A10 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A10P "family with sequence similarity 90, member A10|family with sequence similarity 90, member A10, pseudogene|family with sequence similarity 90 member A10, pseudogene" 2005-10-04 2021-11-15 2021-11-15 2021-11-15 441328 ENSG00000285950 OTTHUMG00000165397 NM_001164447 A6NDY2 MGI:1921682 613047 PGOHUM00000303435 HGNC:32258 +HGNC:32259 FAM90A11P family with sequence similarity 90 member A11, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 FAM90A11 "family with sequence similarity 90, member A11|family with sequence similarity 90, member A11, pseudogene" 2005-10-04 2011-08-31 2015-11-18 2016-09-30 441331 ENSG00000233115 OTTHUMG00000163639 NG_006010 PGOHUM00000258325 HGNC:32259 +HGNC:32260 FAM90A12P family with sequence similarity 90 member A12, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 FAM90A12 "family with sequence similarity 90, member A12|family with sequence similarity 90, member A12, pseudogene" 2005-10-04 2012-02-21 2015-11-18 2016-09-30 645879 ENSG00000254229 OTTHUMG00000163643 NG_032086 A8MX19 MGI:1921682 613048 PGOHUM00000258327 HGNC:32260 +HGNC:32261 FAM90A13P family with sequence similarity 90 member A13, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 FAM90A13 "family with sequence similarity 90, member A13|family with sequence similarity 90, member A13, pseudogene" 2005-10-05 2012-02-21 2015-11-18 2016-09-30 441314 ENSG00000223885 OTTHUMG00000165212 NG_032076 P0C7W8 MGI:1921682 613049 PGOHUM00000258351 HGNC:32261 +HGNC:32262 FAM90A14 family with sequence similarity 90 member A14 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A14P "family with sequence similarity 90, member A14|family with sequence similarity 90, member A14, pseudogene|family with sequence similarity 90 member A14, pseudogene" 2005-10-05 2021-11-15 2021-11-15 2021-11-15 645651 ENSG00000285814 OTTHUMG00000165390 NM_001164452 P0C7W9 MGI:1921682 613050 PGOHUM00000258360 HGNC:32262 +HGNC:32263 FAM90A15P family with sequence similarity 90 member A15, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 FAM90A15 "family with sequence similarity 90, member A15|family with sequence similarity 90, member A15, pseudogene" 2005-10-05 2012-02-21 2015-11-18 2016-09-30 389630 ENSG00000230045 OTTHUMG00000160360 NG_032075 P0C7V4 MGI:1921682 613051 PGOHUM00000250017 HGNC:32263 +HGNC:32264 FAM90A16 family with sequence similarity 90 member A16 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A16P "family with sequence similarity 90, member A16|family with sequence similarity 90, member A16, pseudogene|family with sequence similarity 90 member A16, pseudogene" 2005-10-05 2021-11-15 2021-11-15 2021-11-15 441323 ENSG00000285620 OTTHUMG00000165392 NM_001397396 A6NEW6 PGOHUM00000258362 HGNC:32264 +HGNC:32265 FAM90A17 family with sequence similarity 90 member A17 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A17P "family with sequence similarity 90, member A17|family with sequence similarity 90, member A17, pseudogene|family with sequence similarity 90 member A17, pseudogene" 2005-10-05 2021-11-15 2021-11-15 2021-11-15 728746 ENSG00000285720 OTTHUMG00000165394 NM_001397391 A6NEW6 MGI:1921682 PGOHUM00000258364 HGNC:32265 +HGNC:32266 FAM90A18 family with sequence similarity 90 member A18 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A18P "family with sequence similarity 90, member A18|family with sequence similarity 90, member A18, pseudogene|family with sequence similarity 90 member A18, pseudogene" 2005-10-05 2021-11-15 2021-11-15 2021-11-15 441326 ENSG00000285913 OTTHUMG00000165391 NM_001164451 A6NE21 613052 PGOHUM00000303429 HGNC:32266 +HGNC:32267 FAM90A19 family with sequence similarity 90 member A19 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A19P "family with sequence similarity 90, member A19|family with sequence similarity 90, member A19, pseudogene|family with sequence similarity 90 member A19, pseudogene" 2005-10-05 2021-11-15 2021-11-15 2021-11-15 728753 ENSG00000285657 OTTHUMG00000165395 NM_001164449 A6NE21 MGI:1921682 613053 PGOHUM00000258365 HGNC:32267 +HGNC:32268 FAM90A20P family with sequence similarity 90 member A20, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 FAM90A20 "family with sequence similarity 90, member A20|family with sequence similarity 90, member A20, pseudogene" 2005-10-05 2012-02-21 2015-11-18 2016-09-30 728430 ENSG00000233295 OTTHUMG00000165214 NG_032078 A6NIJ5 MGI:1921682 613054 PGOHUM00000258353 HGNC:32268 +HGNC:32269 FAM90A21P family with sequence similarity 90 member A21, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 family with sequence similarity 90, member A21, pseudogene 2005-10-05 2015-11-18 2016-11-09 619418 ENSG00000234749 OTTHUMG00000150264 NG_005998 PGOHUM00000303060 HGNC:32269 +HGNC:32270 FAM90A22 family with sequence similarity 90 member A22 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A22P "family with sequence similarity 90, member A22|family with sequence similarity 90, member A22, pseudogene|family with sequence similarity 90 member A22, pseudogene" 2005-10-05 2021-11-15 2021-11-15 2021-11-15 645558 ENSG00000285687 OTTHUMG00000150262 NM_001397382 A8MWA6 MGI:1921682 PGOHUM00000258316 HGNC:32270 +HGNC:32271 FAM90A23 family with sequence similarity 90 member A23 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 FAM90A23P "family with sequence similarity 90, member A23 pseudogene|family with sequence similarity 90, member A23|family with sequence similarity 90, member A23, pseudogene|family with sequence similarity 90 member A23, pseudogene" 2005-10-05 2021-11-15 2021-11-15 2021-11-15 645572 ENSG00000285765 OTTHUMG00000150265 NM_001397380 A8MXZ1 MGI:1921682 PGOHUM00000258317 HGNC:32271 +HGNC:32272 FAM90A24P family with sequence similarity 90 member A24, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 FAM90A24 "family with sequence similarity 90, member A24|family with sequence similarity 90, member A24, pseudogene" 2005-10-05 2008-06-19 2015-11-18 2016-11-09 441332 ENSG00000215354 OTTHUMG00000163642 NG_006004 P0C7X0 MGI:1921682 PGOHUM00000303074 HGNC:32272 +HGNC:32246 FAM90A25P family with sequence similarity 90 member A25, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 family with sequence similarity 90, member A25, pseudogene 2007-04-04 2015-11-18 2016-09-30 389633 ENSG00000251402 OTTHUMG00000165461 NG_032087 MGI:1921682 PGOHUM00000249244 HGNC:32246 +HGNC:43746 FAM90A26 family with sequence similarity 90 member A26 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 FAM90A26P "family with sequence similarity 90, member A26, pseudogene|family with sequence similarity 90, member A26" 2012-02-22 2013-03-06 2015-11-18 2021-10-06 100287045 ENSG00000229924 OTTHUMG00000160151 uc062vco.1 NM_001358418 CCDS87208 D6RGX4 MGI:1921682 HGNC:43746 +HGNC:43617 FAM90A27P family with sequence similarity 90 member A27, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 family with sequence similarity 90, member A27, pseudogene 2012-02-22 2015-11-18 2016-09-30 646508 ENSG00000189348 OTTHUMG00000182909 NR_046365 A6NNH2 MGI:1921682 PGOHUM00000263732 HGNC:43617 +HGNC:43747 FAM90A28P family with sequence similarity 90 member A28, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 family with sequence similarity 90, member A28, pseudogene 2012-02-22 2015-11-18 2016-09-30 100128254 ENSG00000269118 NG_028700 PGOHUM00000263685 HGNC:43747 +HGNC:26306 FAM91A1 family with sequence similarity 91 member A1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 FLJ23790 family with sequence similarity 91, member A1 2005-10-04 2015-11-18 2016-09-30 157769 ENSG00000176853 OTTHUMG00000133021 uc003yqv.4 AK074370 NM_144963 "CCDS6346|CCDS83322" Q658Y4 12477932 MGI:1277178 RGD:1586304 HGNC:26306 "ENST00000334705.12|NM_144963.4" +HGNC:51523 FAM91A2P family with sequence similarity 91 member A2, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 family with sequence similarity 91, member A2 pseudogene 2015-02-04 2015-11-18 2018-05-04 101929801 ENSG00000284842 NG_034095 PGOHUM00000296564 HGNC:51523 +HGNC:32273 FAM91A3P family with sequence similarity 91 member A3, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 family with sequence similarity 91, member A3 pseudogene 2005-10-04 2015-11-18 2016-09-30 729182 ENSG00000242352 OTTHUMG00000041566 NG_007181 HGNC:32273 +HGNC:51524 FAM91A4P family with sequence similarity 91 member A4, pseudogene pseudogene pseudogene Approved 1p11.2 01p11.2 family with sequence similarity 91, member A4 pseudogene 2015-02-04 2015-11-18 2016-09-30 100132306 NG_022806 PGOHUM00000296501 HGNC:51524 +HGNC:28069 FAM95A family with sequence similarity 95 member A non-coding RNA RNA, long non-coding Approved 2q11.1 02q11.1 DKFZp434H0923 family with sequence similarity 95, member A Long non-coding RNAs with FAM root symbol 1993 2013-03-15 2015-11-18 2016-09-30 90499 AL137712 NR_038409 FAM95A HGNC:28069 +HGNC:32318 FAM95B1 family with sequence similarity 95 member B1 non-coding RNA RNA, long non-coding Approved 9p11.2 09p11.2 DKFZp686P0734 family with sequence similarity 95, member B1 Long non-coding RNAs with FAM root symbol 1993 2008-05-02 2015-11-18 2016-09-30 100133036 ENSG00000223839 OTTHUMG00000058623 uc004acg.4 AL833349 NR_026759 FAM95B1 HGNC:32318 +HGNC:45272 FAM95C family with sequence similarity 95 member C non-coding RNA RNA, long non-coding Approved 9p13.1 09p13.1 family with sequence similarity 95, member C Long non-coding RNAs with FAM root symbol 1993 2013-03-15 2015-11-18 2016-09-30 100289137 ENSG00000283486 OTTHUMG00000186350 uc064tdx.1 NR_047651 RGD:9147085 FAM95C HGNC:45272 +HGNC:24520 FAM98A family with sequence similarity 98 member A protein-coding gene gene with protein product Approved 2p22.3 02p22.3 DKFZP564F0522 family with sequence similarity 98, member A tRNA splicing ligase complex 1345 2005-11-03 2005-11-20 2015-11-18 2018-02-28 25940 ENSG00000119812 OTTHUMG00000152152 uc002rpa.2 NM_015475 CCDS33179 Q8NCA5 24257188 MGI:1919972 RGD:1305486 HGNC:24520 "ENST00000238823.13|NM_015475.5" +HGNC:26773 FAM98B family with sequence similarity 98 member B protein-coding gene gene with protein product Approved 15q14 15q14 FLJ38426 family with sequence similarity 98, member B tRNA splicing ligase complex 1345 2005-11-03 2005-11-20 2015-11-18 2018-02-28 283742 ENSG00000171262 OTTHUMG00000129831 uc001zkc.4 NM_173611 CCDS10047 Q52LJ0 24608264 MGI:1915465 RGD:1564603 616142 HGNC:26773 "ENST00000397609.6|NM_173611.4" +HGNC:27119 FAM98C family with sequence similarity 98 member C protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ44669 family with sequence similarity 98, member C 2005-11-03 2015-11-18 2020-01-06 147965 ENSG00000130244 OTTHUMG00000182084 uc002oin.2 NM_174905 "CCDS42562|CCDS86763" Q17RN3 12477932 MGI:1921083 RGD:1303117 HGNC:27119 "ENST00000252530.10|NM_174905.4" +HGNC:32368 FAM99A family with sequence similarity 99 member A non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 FLJ42833 "family with sequence similarity 99, member A|family with sequence similarity 99, member A (non-protein coding)|family with sequence similarity 99 member A (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2005-10-27 2018-05-17 2019-07-12 387742 ENSG00000205866 OTTHUMG00000057555 uc009ycz.4 AK124823 NR_026643 31173227 FAM99A HGNC:32368 +HGNC:32369 FAM99B family with sequence similarity 99 member B non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 DKFZp781M09150 "family with sequence similarity 99, member B|family with sequence similarity 99, member B (non-protein coding)|family with sequence similarity 99 member B (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2005-10-27 2018-05-17 2019-07-11 100132464 ENSG00000205865 OTTHUMG00000057552 uc010qxa.2 CR627417 NR_026642 31243545 FAM99B HGNC:32369 +HGNC:31419 FAM102A family with sequence similarity 102 member A protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "Eeig1|bA203J24.7|SYM-3A" "sym-3 homolog A (C. elegans)|early estrogen-induced gene 1" C9orf132 "chromosome 9 open reading frame 132|family with sequence similarity 102, member A" NT-C2 domain containing 1537 2005-03-22 2005-11-17 2015-11-18 2021-04-22 399665 ENSG00000167106 OTTHUMG00000020720 uc004bsx.3 NM_001035254 "CCDS35150|CCDS6888" Q5T9C2 23478294 MGI:2138935 RGD:1597535 610891 HGNC:31419 "ENST00000373095.6|NM_001035254.3" +HGNC:27637 FAM102B family with sequence similarity 102 member B protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "DKFZp779B126|SYM-3B" sym-3 homolog B (C. elegans) family with sequence similarity 102, member B NT-C2 domain containing 1537 2005-11-17 2015-11-18 2016-12-13 284611 ENSG00000162636 OTTHUMG00000010967 uc010ouy.3 CR749397 NM_001010883 CCDS30786 Q5T8I3 MGI:3036259 RGD:1310037 HGNC:27637 "ENST00000370035.8|NM_001010883.3" +HGNC:25918 FAM104A family with sequence similarity 104 member A protein-coding gene gene with protein product Approved 17q25.1 17q25.1 FLJ14775 family with sequence similarity 104, member A 2005-12-16 2015-11-18 2016-09-30 84923 ENSG00000133193 OTTHUMG00000150564 uc002jji.5 AK027681 NM_032837 "CCDS11693|CCDS45766|CCDS74144|CCDS74143" Q969W3 MGI:106351 RGD:1563409 HGNC:25918 "ENST00000405159.8|NM_001098832.2" +HGNC:25085 FAM104B family with sequence similarity 104 member B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 FLJ20434 CXorf44 "chromosome X open reading frame 44|family with sequence similarity 104, member B" 2004-09-15 2006-05-16 2015-11-18 2016-10-05 90736 ENSG00000182518 OTTHUMG00000021646 uc004duh.3 BC000919 NM_138362 "CCDS35305|CCDS55425|CCDS55424|CCDS55423|CCDS55422|CCDS55426" Q5XKR9 12477932 RGD:2323310 HGNC:25085 +HGNC:25682 FAM106A family with sequence similarity 106 member A non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 FLJ11800 family with sequence similarity 106, member A 2006-01-12 2015-11-18 2021-02-25 80039 ENSG00000273018 OTTHUMG00000179516 uc002gtz.3 AK021862 NR_170998 Q4KMX7 14702039 HGNC:25682 +HGNC:32450 FAM106B family with sequence similarity 106 member B other unknown Approved 17p11.2 17p11.2 family with sequence similarity 106, member B 2006-01-12 2015-11-18 2020-04-20 100996259 BK001591 NM_001348161 HGNC:32450 +HGNC:38396 FAM106C family with sequence similarity 106 member C other unknown Approved 17p11.2 17p11.2 "FAM106C|FAM106CP" "family with sequence similarity 106, member C, pseudogene|family with sequence similarity 106 member C, pseudogene" 2010-04-30 2019-03-06 2019-03-06 2021-02-25 100129396 ENSG00000288235 OTTHUMG00000178951 NR_170993 P0CH98 HGNC:38396 +HGNC:38397 FAM106DP family with sequence similarity 106 member D, pseudogene pseudogene pseudogene Approved 17q23.1 17q23.1 FAM106D family with sequence similarity 106, member D, pseudogene 2010-04-30 2011-04-15 2015-11-18 2020-01-21 100874406 ENSG00000266960 OTTHUMG00000179988 NG_032201 PGOHUM00000237453 HGNC:38397 +HGNC:30827 FAM107A family with sequence similarity 107 member A protein-coding gene gene with protein product Approved 3p14.3-p14.2 03p14.3-p14.2 "DRR1|TU3A" down-regulated in renal cell carcinoma family with sequence similarity 107, member A 2006-01-17 2015-11-18 2019-06-03 11170 ENSG00000168309 OTTHUMG00000159159 uc003dkm.5 AF089854 NM_007177 "CCDS2892|CCDS63672|CCDS63673" O95990 "10564580|10702698" MGI:3041256 RGD:1306327 608295 HGNC:30827 "ENST00000360997.7|NM_001076778.3" +HGNC:23726 FAM107B family with sequence similarity 107 member B protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ45505|MGC11034|HITS" heat shock-inducible tumor small protein C10orf45 "chromosome 10 open reading frame 45|family with sequence similarity 107, member B" 2003-12-04 2005-11-20 2015-11-18 2019-06-17 83641 ENSG00000065809 OTTHUMG00000017709 uc001imz.3 AK127413 NM_031453 "CCDS60486|CCDS7102" Q9H098 11230166 MGI:1913790 RGD:1561482 HGNC:23726 "ENST00000181796.7|NM_031453.4" +HGNC:16188 FAM110A family with sequence similarity 110 member A protein-coding gene gene with protein product Approved 20p13 20p13 bA371L19.3 C20orf55 "chromosome 20 open reading frame 55|family with sequence similarity 110, member A" 2001-07-17 2007-03-21 2015-11-18 2021-07-05 83541 ENSG00000125898 OTTHUMG00000031649 uc002wef.3 BC012800 NM_031424 CCDS13008 Q9BQ89 17499476 MGI:1921097 RGD:1308904 611393 HGNC:16188 "ENST00000381941.8|NM_001042353.3" +HGNC:28587 FAM110B family with sequence similarity 110 member B protein-coding gene gene with protein product Approved 8q12.1 08q12.1 MGC39325 C8orf72 "chromosome 8 open reading frame 72|family with sequence similarity 110, member B" 2005-09-22 2007-03-21 2015-11-18 2016-10-25 90362 ENSG00000169122 OTTHUMG00000164282 uc003xtj.2 U79298 NM_147189 CCDS6170 Q8TC76 "8619474|9110174|17499476" MGI:1916593 RGD:1563403 611394 HGNC:28587 "ENST00000519262.6|NM_001377989.1" +HGNC:33340 FAM110C family with sequence similarity 110 member C protein-coding gene gene with protein product Approved 2p25.3 02p25.3 family with sequence similarity 110, member C 2007-03-21 2015-11-18 2016-09-30 642273 ENSG00000184731 OTTHUMG00000151321 uc010yim.3 DQ431183 NM_001077710 CCDS42645 Q1W6H9 "17499476|19698782" MGI:1918813 RGD:1564713 611395 HGNC:33340 "ENST00000327669.5|NM_001077710.3" +HGNC:25860 FAM110D family with sequence similarity 110 member D protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ14050 GRRP1 "glycine/arginine rich protein 1|family with sequence similarity 110, member D" 2005-07-26 2011-12-01 2015-11-18 2016-09-30 79927 ENSG00000197245 OTTHUMG00000007537 uc001blk.4 NM_024869 CCDS41285 Q8TAY7 12477932 MGI:1919940 RGD:1564994 HGNC:25860 "ENST00000374268.5|NM_024869.3" +HGNC:24725 FAM111A FAM111 trypsin like peptidase A protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "FLJ22794|KIAA1895" family with sequence similarity 111 member A 2006-02-06 2020-10-09 2020-10-09 63901 ENSG00000166801 OTTHUMG00000167280 uc001nno.4 AK092953 NM_022074 CCDS7973 Q96PZ2 "23996431|2368401|24561620" MGI:1915508 RGD:1560913 615292 357054 HGNC:24725 "ENST00000675163.1|NM_001312909.2" HGNC:24725 +HGNC:53752 FAM111A-DT FAM111A divergent transcript non-coding RNA RNA, long non-coding Approved 11q12.1 11q12.1 Divergent transcripts 1990 2017-09-28 2017-09-28 101927204 ENSG00000245571 OTTHUMG00000167435 BC028022 NR_110184 28942040 HGNC:53752 +HGNC:24200 FAM111B FAM111 trypsin like peptidase B protein-coding gene gene with protein product Approved 11q12.1 11q12.1 CANP family with sequence similarity 111 member B 2006-02-06 2020-10-09 2020-10-09 374393 ENSG00000189057 OTTHUMG00000167279 uc001nnl.5 BC062456 NM_198947 "CCDS7972|CCDS44611" Q6SJ93 24268661 615584 376965 HGNC:24200 "ENST00000343597.4|NM_198947.4" HGNC:24200 +HGNC:25087 FAM114A1 family with sequence similarity 114 member A1 protein-coding gene gene with protein product Approved 4p14 04p14 Noxp20 family with sequence similarity 114, member A1 MicroRNA protein coding host genes 1691 2006-09-21 2015-11-18 2019-04-18 92689 ENSG00000197712 OTTHUMG00000128583 uc003gtn.4 NM_138389 "CCDS82916|CCDS3447" Q8IWE2 MGI:1915553 RGD:1560201 HGNC:25087 "ENST00000358869.5|NM_138389.4" +HGNC:1333 FAM114A2 family with sequence similarity 114 member A2 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 133K02 C5orf3 "chromosome 5 open reading frame 3|family with sequence similarity 114, member A2" 1999-07-22 2008-06-13 2015-11-18 2020-09-17 10827 ENSG00000055147 OTTHUMG00000130147 uc003lvc.5 AF159700 NM_018691 "CCDS4323|CCDS83036" Q9NRY5 10843801 MGI:1917629 RGD:1305362 HGNC:1333 "ENST00000351797.9|NM_018691.4" +HGNC:24179 FAM117A family with sequence similarity 117 member A protein-coding gene gene with protein product Approved 17q21.33 17q21.33 C/EBP induced protein family with sequence similarity 117, member A 2006-04-26 2015-11-18 2019-04-12 81558 ENSG00000121104 OTTHUMG00000161696 uc002ipk.4 BC037572 NM_030802 CCDS11553 Q9C073 12477932 MGI:2144564 RGD:1561062 HGNC:24179 "ENST00000240364.7|NM_030802.4" +HGNC:14440 FAM117B family with sequence similarity 117 member B protein-coding gene gene with protein product Approved 2q33.2 02q33.2 FLJ38771 ALS2CR13 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13|family with sequence similarity 117, member B" 2001-01-26 2008-08-18 2015-11-18 2016-10-05 150864 ENSG00000138439 OTTHUMG00000154550 uc010zhx.3 AB053315 NM_173511 CCDS33362 Q6P1L5 11586298 MGI:1920000 RGD:1307676 HGNC:14440 "ENST00000392238.3|NM_173511.4" +HGNC:1313 FAM118A family with sequence similarity 118 member A protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "FLJ20635|bK268H5.C22.4" C22orf8 "chromosome 22 open reading frame 8|family with sequence similarity 118, member A" 2000-03-29 2006-04-26 2015-11-18 2020-09-17 55007 ENSG00000100376 OTTHUMG00000151338 uc003bfz.5 BC013696 NM_017911 CCDS14065 Q9NWS6 12477932 MGI:1920475 RGD:1560783 HGNC:1313 "ENST00000441876.7|NM_017911.4" +HGNC:26110 FAM118B family with sequence similarity 118 member B protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ21103 family with sequence similarity 118, member B 2006-04-26 2015-11-18 2020-01-06 79607 ENSG00000197798 OTTHUMG00000165817 uc001qdf.4 BC001340 NM_024556 "CCDS81647|CCDS8470" Q9BPY3 "24569877|27819531" MGI:1924483 RGD:1307173 616587 HGNC:26110 "ENST00000533050.6|NM_024556.4" +HGNC:13247 FAM120A family with sequence similarity 120A protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "KIAA0183|OSSA" oxidative stess-associated Src activator C9orf10 chromosome 9 open reading frame 10 2002-10-09 2006-07-04 2006-07-04 2021-02-25 23196 ENSG00000048828 OTTHUMG00000020252 uc004atw.5 AF214737 NM_014612 "CCDS75859|CCDS6706" Q9NZB2 "14585507|19015244|25896327" MGI:2446163 RGD:1306643 612265 HGNC:13247 "ENST00000277165.11|NM_014612.5" HGNC:13247 +HGNC:23389 FAM120AOS family with sequence similarity 120A opposite strand protein-coding gene gene with protein product Approved 9q22.31 09q22.31 C9orf10OS chromosome 9 open reading frame 10 opposite strand 2003-11-14 2006-07-04 2006-07-04 2016-10-05 158293 ENSG00000188938 OTTHUMG00000020251 uc004atu.5 AK056096 NM_001322224 "CCDS6705|CCDS83385" Q5T036 14585507 HGNC:23389 "ENST00000375412.11|NM_198841.4" +HGNC:21109 FAM120B family with sequence similarity 120B protein-coding gene gene with protein product Approved 6q27 06q27 "PGCC1|CCPG|SAN1" "PPARgamma constitutive coactivator 1|constitutive coactivator of PPAR-gamma|senataxin-associated nuclease 1" KIAA1838 KIAA1838 MicroRNA protein coding host genes 1691 2003-11-21 2006-07-04 2006-07-04 2019-05-16 84498 ENSG00000112584 OTTHUMG00000016080 uc003qxp.5 AB058741 NM_032448 "CCDS75555|CCDS5314|CCDS69243|CCDS78200" Q96EK7 "14585507|29968717" MGI:1914794 RGD:1310304 612266 HGNC:21109 "ENST00000476287.4|NM_032448.3" +HGNC:16949 FAM120C family with sequence similarity 120C protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "ORF34|FLJ20506" CXorf17 chromosome X open reading frame 17 2004-05-12 2006-07-04 2006-07-04 2020-04-20 54954 ENSG00000184083 OTTHUMG00000021625 uc004dsz.5 AY150025 NM_017848 "CCDS55421|CCDS75987|CCDS14356" Q9NX05 14585507 MGI:2387687 RGD:1564253 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM120C 300741 HGNC:16949 "ENST00000375180.7|NM_017848.6" +HGNC:26413 FAM124A family with sequence similarity 124 member A protein-coding gene gene with protein product Approved 13q14.3 13q14.3 FLJ30707 family with sequence similarity 124A 2006-08-11 2015-11-05 2016-09-30 220108 ENSG00000150510 OTTHUMG00000016942 uc001vff.3 AK096364 NM_145019 "CCDS81767|CCDS9427|CCDS55900" Q86V42 12975309 MGI:3645930 RGD:1593344 HGNC:26413 "ENST00000322475.13|NM_001242312.2" +HGNC:26224 FAM124B family with sequence similarity 124 member B protein-coding gene gene with protein product Approved 2q36.2 02q36.2 FLJ22746 family with sequence similarity 124B 2006-08-11 2015-11-05 2017-11-28 79843 ENSG00000124019 OTTHUMG00000133168 uc002vnx.4 AK075126 NM_024785 "CCDS2461|CCDS46527" Q9H5Z6 23285124 MGI:3026880 RGD:1589866 618403 HGNC:26224 "ENST00000409685.4|NM_001122779.2" +HGNC:24587 FAM126A family with sequence similarity 126 member A protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "DRCTNNB1A|HCC|HYCC1|hyccin" down regulated by Ctnnb1, a family with sequence similarity 126, member A PI4KA lipid kinase complex 1588 2006-09-06 2015-11-18 2019-08-12 84668 ENSG00000122591 OTTHUMG00000128435 uc003svm.5 BC018710 NM_032581 "CCDS87486|CCDS5377" Q9BYI3 "29229838|10910037|16951682|26571211" MGI:2149839 RGD:1562906 610531 121688 HGNC:24587 "ENST00000432176.7|NM_032581.4" HGNC:24587 +HGNC:28593 FAM126B family with sequence similarity 126 member B protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "MGC39518|HYCC2" family with sequence similarity 126, member B PI4KA lipid kinase complex 1588 2006-09-06 2015-11-18 2019-07-04 285172 ENSG00000155744 OTTHUMG00000132823 uc002uws.4 BC039295 NM_173822 CCDS2335 Q8IXS8 12477932 MGI:1098784 RGD:1309752 HGNC:28593 "ENST00000681958.1|NM_001321623.1" +HGNC:28308 FAM131A family with sequence similarity 131 member A protein-coding gene gene with protein product Approved 3q27.1 03q27.1 MGC21688 C3orf40 "chromosome 3 open reading frame 40|family with sequence similarity 131, member A" 2006-01-06 2007-03-20 2015-11-18 2016-09-30 131408 ENSG00000175182 OTTHUMG00000156206 uc003foe.4 BC026221 NM_144635 "CCDS3262|CCDS54689" Q6UXB0 12975309 MGI:1925658 RGD:2322069 HGNC:28308 "ENST00000383847.7|NM_144635.5" +HGNC:22202 FAM131B family with sequence similarity 131 member B protein-coding gene gene with protein product Approved 7q34 07q34 KIAA0773 family with sequence similarity 131, member B 2007-03-20 2015-11-18 2016-09-30 9715 ENSG00000159784 OTTHUMG00000152697 uc064ivp.1 BC045611 NM_014690 "CCDS5882|CCDS47734" Q86XD5 MGI:1923406 RGD:1560653 619282 HGNC:22202 "ENST00000443739.7|NM_001031690.3" +HGNC:55208 FAM131B-AS1 FAM131B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q34 07q34 Antisense RNAs 1987 2020-08-21 2020-08-21 101928397 ENSG00000272619 XR_001744995 +HGNC:56141 FAM131B-AS2 FAM131B antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q34 07q34 Antisense RNAs 1987 2022-01-12 2022-01-12 100507507 ENSG00000232533 NR_161353 +HGNC:26717 FAM131C family with sequence similarity 131 member C protein-coding gene gene with protein product Approved 1p36.13 01p36.13 FLJ36766 C1orf117 "chromosome 1 open reading frame 117|family with sequence similarity 131, member C" 2005-06-14 2007-03-20 2015-11-18 2016-09-30 348487 ENSG00000185519 OTTHUMG00000009525 uc001axz.5 NM_182623 CCDS41270 Q96AQ9 12477932 MGI:2685539 RGD:1590955 HGNC:26717 "ENST00000375662.5|NM_182623.3" +HGNC:56213 FAM131C2P family with sequence similarity 131 member C2, pseudogene pseudogene pseudogene Approved 1p36.13 01p36.13 2022-03-14 2022-03-14 440568 ENSG00000232456 NG_006947 PGOHUM00000295566 +HGNC:26748 FAM133A family with sequence similarity 133 member A protein-coding gene gene with protein product Approved Xq21.32 Xq21.32 "RP1-32F7.2|FLJ37659|CT115" cancer/testis antigen 115 family with sequence similarity 133, member A 2007-04-26 2015-11-18 2020-04-02 286499 ENSG00000179083 OTTHUMG00000021975 uc022bzw.1 AK094978 NM_173698 CCDS14466 Q8N9E0 MGI:1915402 RGD:9153529 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM133A HGNC:26748 "ENST00000683942.1|NM_001171109.2" +HGNC:28629 FAM133B family with sequence similarity 133 member B protein-coding gene gene with protein product Approved 7q21.2 07q21.2 MGC40405 family with sequence similarity 133, member B 2007-04-26 2015-11-18 2016-09-30 257415 ENSG00000234545 OTTHUMG00000155863 uc003umc.5 NM_001040057 "CCDS47640|CCDS47641" Q5BKY9 12477932 MGI:1915402 RGD:1306302 HGNC:28629 "ENST00000445716.6|NM_152789.4" +HGNC:44190 FAM133CP family with sequence similarity 133 member C, pseudogene pseudogene pseudogene Approved 10q21.1 10q21.1 family with sequence similarity 133, member C, pseudogene 2012-06-30 2015-11-18 2016-09-30 728640 ENSG00000183055 OTTHUMG00000018272 NR_027508 PGOHUM00000238809 HGNC:44190 +HGNC:44192 FAM133DP family with sequence similarity 133 member D, pseudogene pseudogene pseudogene Approved 2q24.1 02q24.1 family with sequence similarity 133, member D, pseudogene 2012-06-30 2015-11-18 2016-09-30 728066 ENSG00000230562 OTTHUMG00000153949 NR_034169 PGOHUM00000240399 HGNC:44192 +HGNC:54729 FAM133EP family with sequence similarity 133 member E, pseudogene pseudogene pseudogene Approved 2p23.2 02p23.2 2019-12-18 2020-01-21 100505694 ENSG00000270528 NG_030289 +HGNC:54730 FAM133FP family with sequence similarity 133 member F, pseudogene pseudogene pseudogene Approved 1q42.13 01q42.13 2019-12-18 2020-01-21 100421606 ENSG00000225934 NG_027047 +HGNC:54731 FAM133GP family with sequence similarity 133 member G, pseudogene pseudogene pseudogene Approved 12p12.1 12p12.1 2019-12-18 2020-01-21 100421617 ENSG00000256079 NG_023992 +HGNC:21084 FAM135A family with sequence similarity 135 member A protein-coding gene gene with protein product Approved 6q13 06q13 FLJ20176 KIAA1411 "KIAA1411|family with sequence similarity 135, member A" 2003-11-21 2007-05-11 2015-11-18 2016-09-30 57579 ENSG00000082269 OTTHUMG00000014991 uc003pfh.4 AK000183 NM_020819 "CCDS34481|CCDS55028|CCDS47448|CCDS83104" Q9P2D6 10718198 MGI:1915437 RGD:1304927 470312 HGNC:21084 "ENST00000418814.7|NM_001162529.3" +HGNC:40955 FAM135A-AS1 FAM135A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 Antisense RNAs 1987 2019-07-25 2019-07-25 105377849 ENSG00000224349 OTTHUMG00000014990 NR_147708 HGNC:40955 +HGNC:28029 FAM135B family with sequence similarity 135 member B protein-coding gene gene with protein product Approved 8q24.23 08q24.23 C8ORFK32 family with sequence similarity 135, member B 2007-05-11 2015-11-18 2016-09-30 51059 ENSG00000147724 OTTHUMG00000149864 uc003yuy.3 AB196635 NM_015912 CCDS6375 Q49AJ0 "8619474|9110174" MGI:1917613 RGD:1308133 HGNC:28029 "ENST00000395297.6|NM_015912.4" +HGNC:25911 FAM136A family with sequence similarity 136 member A protein-coding gene gene with protein product Approved 2p13.3 02p13.3 FLJ14668 hypothetical protein FLJ14668 family with sequence similarity 136, member A 2007-07-10 2015-11-18 2020-03-25 84908 ENSG00000035141 OTTHUMG00000129668 uc002sgq.5 BC014975 NM_032822 "CCDS86849|CCDS1904" Q96C01 "25305078|32098576" MGI:1913738 RGD:1304825 616275 HGNC:25911 "ENST00000430566.6|NM_001329752.2" +HGNC:21110 FAM136BP family with sequence similarity 136 member B, pseudogene pseudogene pseudogene Approved 6p25.2 06p25.2 dJ40E16.3 "C6orf87|FAM136B" "chromosome 6 open reading frame 87|family with sequence similarity 136, member B|family with sequence similarity 136, member B, pseudogene" 2003-11-26 2010-12-20 2015-11-18 2016-09-30 387071 ENSG00000232654 OTTHUMG00000014137 NG_028136 PGOHUM00000243469 HGNC:21110 +HGNC:55496 FAM136CP family with sequence similarity 136 member C, pseudogene pseudogene pseudogene Approved 3q12.3 03q12.3 2021-03-16 2021-03-16 100287852 ENSG00000232830 NG_051260 PGOHUM00000299519 +HGNC:55497 FAM136DP family with sequence similarity 136 member D, pseudogene pseudogene pseudogene Approved 17q23.3 17q23.3 2021-03-16 2021-03-16 390806 ENSG00000270587 NG_032711 PGOHUM00000294189 +HGNC:55498 FAM136EP family with sequence similarity 136 member E, pseudogene pseudogene pseudogene Approved 22q13.31 22q13.31 2021-03-16 2021-03-16 107985557 ENSG00000230634 NG_030466 PGOHUM00000297557 +HGNC:55499 FAM136FP family with sequence similarity 136 member F, pseudogene pseudogene pseudogene Approved 6q13 06q13 2021-03-16 2021-03-16 100128592 ENSG00000217178 NG_030187 PGOHUM00000301854 +HGNC:55500 FAM136GP family with sequence similarity 136 member G, pseudogene pseudogene pseudogene Approved Xp22.13 Xp22.13 2021-03-16 2021-03-16 107985630 ENSG00000227873 NG_051261 PGOHUM00000304524 +HGNC:32334 FAM138A family with sequence similarity 138 member A non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 F379 family with sequence similarity 138, member A Long non-coding RNAs with FAM root symbol 1993 2007-08-14 2015-11-18 2016-09-30 645520 ENSG00000237613 OTTHUMG00000000960 uc001aak.4 NR_026818 "11779631|15233989" FAM138A HGNC:32334 +HGNC:33582 FAM138B family with sequence similarity 138 member B non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 F379 family with sequence similarity 138, member B Long non-coding RNAs with FAM root symbol 1993 2007-08-14 2015-11-18 2016-10-05 654412 ENSG00000226516 OTTHUMG00000047820 uc002tjz.3 NR_026821 "11779631|15233989" FAM138B HGNC:33582 +HGNC:32333 FAM138C family with sequence similarity 138 member C non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 F379 family with sequence similarity 138, member C Long non-coding RNAs with FAM root symbol 1993 2007-08-14 2015-11-18 2016-09-30 654835 ENSG00000218839 OTTHUMG00000019422 uc003zfv.4 NR_026822 "11779631|15233989" FAM138C HGNC:32333 +HGNC:33583 FAM138D family with sequence similarity 138 member D non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 F379 family with sequence similarity 138, member D Long non-coding RNAs with FAM root symbol 1993 2007-08-14 2015-11-18 2016-09-30 677784 ENSG00000249054 OTTHUMG00000167962 uc010scw.2 NR_026823 "11779631|15233989" FAM138D HGNC:33583 +HGNC:32335 FAM138E family with sequence similarity 138 member E non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 F379 family with sequence similarity 138, member E Long non-coding RNAs with FAM root symbol 1993 2007-08-14 2015-11-18 2016-09-30 100124412 ENSG00000248893 OTTHUMG00000172273 uc010bpi.4 NR_026819 "11779631|15233989" FAM138E HGNC:32335 +HGNC:33581 FAM138F family with sequence similarity 138 member F non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 F379 family with sequence similarity 138, member F Long non-coding RNAs with FAM root symbol 1993 2007-08-14 2015-11-18 2016-09-30 641702 ENSG00000282591 OTTHUMG00000180467 uc284pkl.1 NR_026820 "11779631|15233989" FAM138F HGNC:33581 +HGNC:24527 FAM149A family with sequence similarity 149 member A protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "DKFZP564J102|MST119|MSTP119" family with sequence similarity 149, member A 2007-11-14 2015-11-18 2016-09-30 25854 ENSG00000109794 OTTHUMG00000160565 uc063bno.1 AK057166 NM_001006655 CCDS34117 A5PLN7 MGI:2387177 RGD:1586153 HGNC:24527 "ENST00000389354.7|NM_001367768.3" +HGNC:29162 FAM149B1 family with sequence similarity 149 member B1 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 KIAA0974 "KIAA0974|family with sequence similarity 149, member B1" 2004-09-07 2007-11-14 2015-11-18 2019-06-26 317662 ENSG00000138286 OTTHUMG00000067794 uc009xqz.4 AB023191 NM_173348 CCDS44435 Q96BN6 30905400 MGI:2145567 RGD:1359592 618413 HGNC:29162 "ENST00000242505.11|NM_173348.2" HGNC:29162 +HGNC:31735 FAM149B1P1 family with sequence similarity 149 member B1 pseudogene 1 pseudogene pseudogene Approved 15q26.2 15q26.2 "KIAA0974P|FAM149B2" "KIAA0974 pseudogene|family with sequence similarity 149, member B2|family with sequence similarity 149, member B1 pseudogene 1" 2007-08-01 2012-04-19 2015-11-18 2020-04-20 388181 ENSG00000214424 OTTHUMG00000165496 NG_029289 PGOHUM00000257996 HGNC:31735 +HGNC:25032 FAM151A family with sequence similarity 151 member A protein-coding gene gene with protein product Approved 1p32.3 01p32.3 MGC27169 C1orf179 "chromosome 1 open reading frame 179|family with sequence similarity 151, member A" 2005-07-26 2007-12-18 2015-11-18 2016-09-30 338094 ENSG00000162391 OTTHUMG00000009888 uc001cxn.4 AK091901 NM_176782 CCDS594 Q8WW52 17273976 MGI:2657115 RGD:1359194 HGNC:25032 "ENST00000302250.7|NM_176782.3" +HGNC:33716 FAM151B family with sequence similarity 151 member B protein-coding gene gene with protein product Approved 5q14.1 05q14.1 UNQ9217 family with sequence similarity 151, member B 2007-12-18 2015-11-18 2020-07-27 167555 ENSG00000152380 OTTHUMG00000131303 uc003kgv.3 NM_205548 CCDS4051 Q6UXP7 31949211 MGI:1921192 RGD:1561110 HGNC:33716 "ENST00000282226.5|NM_205548.3" +HGNC:55578 FAM151B-DT FAM151B divergent transcript non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 Divergent transcripts 1990 2021-04-23 2021-04-23 121232370 ENSG00000249042 NR_172938 +HGNC:29940 FAM153A family with sequence similarity 153 member A protein-coding gene gene with protein product Approved 5q35.3 05q35.3 NY-REN-7 NY REN 7 antigen family with sequence similarity 153, member A 2008-01-09 2015-11-18 2016-09-30 285596 ENSG00000170074 OTTHUMG00000163394 uc010jkp.2 AB018295 NM_173663 CCDS34305 Q9UHL3 "10508479|9872452" HGNC:29940 +HGNC:27323 FAM153B family with sequence similarity 153 member B protein-coding gene gene with protein product Approved 5q35.2 05q35.2 family with sequence similarity 153, member B 2008-01-09 2015-11-18 2020-05-22 202134 ENSG00000182230 OTTHUMG00000163181 uc010jjy.2 AK055006 NM_001079529 CCDS43401 P0C7A2 HGNC:27323 +HGNC:33936 FAM153CP family with sequence similarity 153 member C, pseudogene pseudogene pseudogene Approved 5q35.3 05q35.3 NY-REN-7-like FAM153C "family with sequence similarity 153, member C|family with sequence similarity 153 member C" 2008-01-09 2019-03-28 2019-03-28 2019-03-28 653316 ENSG00000204677 OTTHUMG00000163459 uc063kiz.1 BC101338 NR_149722 HGNC:33936 +HGNC:55022 FAM153DP family with sequence similarity 153 member D, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 2020-06-24 2020-06-24 102724062 ENSG00000259966 XR_004837542 +HGNC:30114 FAM156A family with sequence similarity 156 member A protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 PRO0659 TMEM29 "transmembrane protein 29|family with sequence similarity 156, member A" 2004-06-02 2008-04-22 2015-11-18 2016-09-30 29057 ENSG00000268350 OTTHUMG00000188220 uc022bwy.2 AF090943 NM_014138 CCDS35297 Q8NDB6 12477932 MGI:1923420 HGNC:30114 "ENST00000622447.5|NM_001387706.1" +HGNC:31962 FAM156B family with sequence similarity 156 member B protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 TMEM29B "transmembrane protein 29B|family with sequence similarity 156, member B" 2007-08-03 2008-04-22 2015-11-18 2020-04-20 727866 ENSG00000179304 OTTHUMG00000188219 uc064zir.1 NM_001099684 CCDS43957 Q8NDB6 16382448 MGI:1923420 RGD:1584469 HGNC:31962 "ENST00000416841.8|NM_001321178.3" +HGNC:34079 FAM157A family with sequence similarity 157 member A non-coding RNA RNA, long non-coding Approved 3q29 03q29 GTF2IP18 "family with sequence similarity 157, member A|general transcription factor IIi pseudogene 18|family with sequence similarity 157 member A|family with sequence similarity 157 member A (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2008-12-08 2018-05-17 2018-05-17 728262 ENSG00000236438 OTTHUMG00000155433 uc062sqb.1 NR_146164 C9JC47 HGNC:34079 +HGNC:34080 FAM157B family with sequence similarity 157 member B non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 "family with sequence similarity 157, member B|family with sequence similarity 157 member B|family with sequence similarity 157 member B (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2008-12-08 2018-05-17 2018-05-17 100132403 ENSG00000233013 OTTHUMG00000021000 uc011mfe.2 NR_146178 P0CG42 HGNC:34080 +HGNC:34081 FAM157C family with sequence similarity 157 member C non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 "family with sequence similarity 157, member C|family with sequence similarity 157 member C|family with sequence similarity 157 member C (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2008-12-08 2013-01-18 2018-05-17 2020-04-20 100996541 ENSG00000260528 OTTHUMG00000172848 uc002fqr.3 NR_126161 P0CG43 HGNC:34081 +HGNC:25808 FAM161A FAM161 centrosomal protein A protein-coding gene gene with protein product Approved 2p15 02p15 FLJ13305 RP28 "retinitis pigmentosa 28 (autosomal recessive)|family with sequence similarity 161, member A|family with sequence similarity 161 member A" 2008-06-05 2019-01-21 2022-03-09 84140 ENSG00000170264 OTTHUMG00000152165 uc010ypo.3 NM_032180 "CCDS42687|CCDS56120" Q3B820 "20705278|20705279|22940612|32110738" MGI:1921123 RGD:1304999 613596 239962 HGNC:25808 "ENST00000404929.6|NM_001201543.2" HGNC:25808 +HGNC:19854 FAM161B FAM161 centrosomal protein B protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ31697 C14orf44 "chromosome 14 open reading frame 44|family with sequence similarity 161, member B|family with sequence similarity 161 member B|FAM161B, centrosomal protein" 2002-11-27 2008-06-05 2019-01-21 2019-01-21 145483 ENSG00000156050 OTTHUMG00000171259 uc001xpd.4 AA356453 NM_152445 CCDS9822 Q96MY7 MGI:2443027 RGD:1309058 HGNC:19854 "ENST00000286544.5|NM_152445.3" +HGNC:17865 FAM162A family with sequence similarity 162 member A protein-coding gene gene with protein product Approved 3q21.1 03q21.1 E2IG5 C3orf28 "chromosome 3 open reading frame 28|family with sequence similarity 162, member A" 2005-12-20 2008-06-05 2015-11-18 2016-09-30 26355 ENSG00000114023 OTTHUMG00000159494 uc003eez.4 AF191020 NM_014367 CCDS43139 Q96A26 11085516 MGI:1917436 RGD:1590883 608017 HGNC:17865 "ENST00000477892.5|NM_014367.4" +HGNC:21549 FAM162B family with sequence similarity 162 member B protein-coding gene gene with protein product Approved 6q22.1 06q22.1 bA86F4.2 C6orf189 "chromosome 6 open reading frame 189|family with sequence similarity 162, member B" 2003-06-24 2008-06-05 2015-11-18 2018-11-15 221303 ENSG00000183807 OTTHUMG00000015446 uc003pxi.2 BC038997 NM_001085480 CCDS43497 Q5T6X4 MGI:1924546 HGNC:21549 "ENST00000368557.6|NM_001085480.3" +HGNC:28274 FAM163A family with sequence similarity 163 member A protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "MGC16664|NDSP" "neuroblastoma derived secretory protein|cebelin" C1orf76 "chromosome 1 open reading frame 76|family with sequence similarity 163, member A" 2005-05-19 2008-06-05 2015-11-18 2019-10-14 148753 ENSG00000143340 OTTHUMG00000035262 uc001gnj.3 BC009382 NM_173509 CCDS1333 Q96GL9 "19671756|30294689" MGI:3618859 RGD:1565760 611727 HGNC:28274 "ENST00000341785.5|NM_173509.3" +HGNC:33277 FAM163B family with sequence similarity 163 member B protein-coding gene gene with protein product Approved 9q34.2 09q34.2 cebelin-like C9orf166 "chromosome 9 open reading frame 166|family with sequence similarity 163, member B" 2007-01-29 2008-06-05 2015-11-18 2019-10-14 642968 ENSG00000196990 OTTHUMG00000159557 uc064wvy.1 BX629352 NM_001080515 CCDS35171 P0C2L3 30294689 MGI:1926106 RGD:1597714 HGNC:33277 "ENST00000673969.1|NM_001080515.3" +HGNC:33818 FAM166A family with sequence similarity 166 member A protein-coding gene gene with protein product Approved 9q34.3 09q34.3 family with sequence similarity 166, member A 2008-06-10 2015-11-18 2016-09-30 401565 ENSG00000188163 OTTHUMG00000159545 uc004cmi.3 BC132916 NM_001001710 CCDS35186 Q6J272 MGI:3605773 RGD:1562762 HGNC:33818 "ENST00000344774.6|NM_001001710.3" +HGNC:34242 FAM166B family with sequence similarity 166 member B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 family with sequence similarity 166, member B 2008-06-10 2015-11-18 2020-02-20 730112 ENSG00000215187 OTTHUMG00000019858 uc010mkr.4 BC129999 NM_001099951 "CCDS56572|CCDS47963" A8MTA8 MGI:2445194 RGD:2318060 HGNC:34242 "ENST00000399742.7|NM_001164310.3" +HGNC:27938 FAM166C family with sequence similarity 166 member C protein-coding gene gene with protein product Approved 2p23.3 02p23.3 LOC339778 hypothetical protein LOC339778 C2orf70 chromosome 2 open reading frame 70 2008-07-03 2019-06-20 2019-06-20 2019-06-20 339778 ENSG00000173557 OTTHUMG00000151994 uc010eyn.4 NM_001105519 "CCDS42661|CCDS82429" A6NJV1 MGI:1922684 RGD:1559683 HGNC:27938 "ENST00000329615.4|NM_001105519.3" +HGNC:15549 FAM167A family with sequence similarity 167 member A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 DIORA-1 disordered autoimmunity 1 C8orf13 "chromosome 8 open reading frame 13|family with sequence similarity 167, member A" 2001-04-25 2008-06-11 2015-11-18 2018-12-11 83648 ENSG00000154319 OTTHUMG00000129361 uc003wtw.3 NM_053279 CCDS5981 Q96KS9 29663334 MGI:3606565 RGD:1561302 610085 HGNC:15549 "ENST00000284486.9|NM_053279.3" +HGNC:15548 FAM167A-AS1 FAM167A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 C8orf12 chromosome 8 open reading frame 12 Antisense RNAs 1987 2001-04-25 2014-10-01 2014-10-01 2014-10-01 83656 ENSG00000184608 OTTHUMG00000165366 AJ301563 NR_026814 Q96KT0 FAM167A-AS1 HGNC:15548 +HGNC:28133 FAM167B family with sequence similarity 167 member B protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "MGC10820|DIORA-2" disordered autoimmunity 2 C1orf90 "chromosome 1 open reading frame 90|family with sequence similarity 167, member B" 2005-05-27 2008-06-11 2015-11-18 2018-12-11 84734 ENSG00000183615 OTTHUMG00000007462 uc001buw.4 BC004269 NM_032648 CCDS358 Q9BTA0 12477932 MGI:2668032 RGD:1584589 HGNC:28133 "ENST00000373582.4|NM_032648.3" +HGNC:28999 FAM168A family with sequence similarity 168 member A protein-coding gene gene with protein product Approved 11q13.4 11q13.4 TCRP1 tongue cancer chemotherapy resistance-associated protein 1 KIAA0280 "KIAA0280|family with sequence similarity 168, member A" 2006-02-03 2008-06-11 2015-11-18 2018-12-11 23201 ENSG00000054965 OTTHUMG00000167995 uc001oty.3 BC014932 NM_015159 "CCDS41689|CCDS73346|CCDS66165" Q92567 25260657 MGI:2442372 RGD:1308929 616316 HGNC:28999 "ENST00000356467.5|NM_015159.3" +HGNC:27016 FAM168B family with sequence similarity 168 member B protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "KIAA0280L|MANI" myelin associated neurite outgrowth inhibitor family with sequence similarity 168, member B 2008-06-11 2015-11-18 2018-07-05 130074 ENSG00000152102 OTTHUMG00000153473 uc061nwc.1 NM_001009993 CCDS42755 A1KXE4 20716133 MGI:2448487 RGD:1583985 HGNC:27016 "ENST00000389915.4|NM_001009993.4" +HGNC:29138 FAM169A family with sequence similarity 169 member A protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "KIAA0888|SLAP75" soluble lamina-associated protein of 75 kD family with sequence similarity 169, member A 2008-06-11 2015-11-18 2017-01-04 26049 ENSG00000198780 OTTHUMG00000162930 uc003kdm.4 NM_001376049 CCDS43330 Q9Y6X4 "10048485|22412018" MGI:2444268 RGD:1590893 615769 HGNC:29138 "ENST00000687041.1|NM_001376049.1" +HGNC:26835 FAM169B family with sequence similarity 169 member B protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "FLJ39743|KIAA0888L" family with sequence similarity 169, member B 2008-06-11 2015-11-18 2018-11-13 283777 ENSG00000283597 OTTHUMG00000171863 uc002buk.1 NM_182562 CCDS45360 Q8N8A8 MGI:3644026 RGD:1585883 HGNC:26835 +HGNC:27963 FAM170A family with sequence similarity 170 member A protein-coding gene gene with protein product Approved 5q23.1 05q23.1 ZNFD family with sequence similarity 170, member A 2008-06-12 2015-11-18 2018-12-11 340069 ENSG00000164334 OTTHUMG00000162946 uc003ksn.4 AF427126 NM_182761 "CCDS54889|CCDS43353" A1A519 20162441 MGI:2684939 RGD:1565393 618401 HGNC:27963 +HGNC:19736 FAM170B family with sequence similarity 170 member B protein-coding gene gene with protein product Approved 10q11.23 10q11.23 AC084727.4 C10orf73 "chromosome 10 open reading frame 73|family with sequence similarity 170, member B" 2004-02-05 2008-06-12 2015-11-18 2018-11-15 170370 ENSG00000172538 OTTHUMG00000018187 uc001jhj.4 NM_001164484 CCDS53536 A6NMN3 26179146 MGI:2145650 RGD:2318714 HGNC:19736 "ENST00000311787.6|NM_001164484.2" +HGNC:45006 FAM170B-AS1 FAM170B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.23 10q11.23 Antisense RNAs 1987 2013-01-07 2013-01-07 100506733 ENSG00000234736 OTTHUMG00000018186 uc001jhi.2 NR_038973 FAM170B-AS1 HGNC:45006 +HGNC:23522 FAM171A1 family with sequence similarity 171 member A1 protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ12884|APCN" astroprincin C10orf38 "chromosome 10 open reading frame 38|family with sequence similarity 171, member A1" 2004-05-27 2008-06-16 2015-11-18 2019-03-07 221061 ENSG00000148468 OTTHUMG00000017732 uc001iob.4 AK022946 NM_001010924 CCDS31154 Q5VUB5 30312582 MGI:2442917 RGD:1594172 HGNC:23522 "ENST00000378116.9|NM_001010924.2" +HGNC:30480 FAM171A2 family with sequence similarity 171 member A2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MGC34829 family with sequence similarity 171, member A2 2008-06-16 2015-11-18 2022-03-09 284069 ENSG00000161682 OTTHUMG00000132421 uc002igs.3 NM_198475 CCDS45701 A8MVW0 33087363 MGI:2448496 RGD:1307966 HGNC:30480 "ENST00000293443.12|NM_198475.3" +HGNC:29412 FAM171B family with sequence similarity 171 member B protein-coding gene gene with protein product Approved 2q32.1 02q32.1 FLJ34104 KIAA1946 "KIAA1946|family with sequence similarity 171, member B" 2004-04-21 2008-06-16 2015-11-18 2016-10-05 165215 ENSG00000144369 OTTHUMG00000154278 uc002upt.4 AF361495 NM_177454 CCDS33347 Q6P995 11853319 MGI:2444579 RGD:1562526 HGNC:29412 "ENST00000304698.10|NM_177454.4" +HGNC:25365 FAM172A family with sequence similarity 172 member A protein-coding gene gene with protein product Approved 5q15 05q15 "DKFZP564D172|Toupee" C5orf21 "chromosome 5 open reading frame 21|family with sequence similarity 172, member A" MicroRNA protein coding host genes 1691 2006-02-07 2008-06-16 2015-11-18 2021-03-15 83989 ENSG00000113391 OTTHUMG00000131329 uc010jbd.4 NM_032042 "CCDS4069|CCDS54880|CCDS54879" Q8WUF8 29311329 MGI:1915925 RGD:1305526 HGNC:25365 "ENST00000395965.8|NM_032042.6" +HGNC:34336 FAM172BP family with sequence similarity 172 member B, pseudogene pseudogene pseudogene Approved 3q12.3 03q12.3 "LOC131909|FLJ45679" similar to CG10038-PB, isoform B FAM172B "family with sequence similarity 172, member B pseudogene|family with sequence similarity 172, member B, pseudogene" 2008-06-16 2011-04-15 2015-11-18 2021-03-16 131909 ENSG00000175841 OTTHUMG00000159125 XR_041878 A6NC97 HGNC:34336 +HGNC:24943 FAM174A family with sequence similarity 174 member A protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "UNQ1912|NS5ATP6" hepatitis C virus nonstructural protein 5A trans-activated protein 6 TMEM157 "transmembrane protein 157|family with sequence similarity 174, member A" 2006-05-23 2008-06-19 2015-11-18 2019-04-08 345757 ENSG00000174132 OTTHUMG00000128726 uc003knj.2 AY359108 NM_198507 CCDS4090 Q8TBP5 12975309 MGI:1914948 RGD:1309973 HGNC:24943 "ENST00000312637.5|NM_198507.3" +HGNC:55584 FAM174A-DT FAM174A divergent transcript non-coding RNA RNA, long non-coding Approved 5q21.1 05q21.1 Divergent transcripts 1990 2021-04-23 2021-04-23 121232371 ENSG00000247877 NR_172939 +HGNC:34339 FAM174B family with sequence similarity 174 member B protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "LOC400451|MGC102891" family with sequence similarity 174, member B 2008-06-19 2015-11-18 2019-04-08 400451 ENSG00000185442 OTTHUMG00000171744 uc059nlk.1 NM_207446 CCDS45355 Q3ZCQ3 MGI:3698178 RGD:1596692 HGNC:34339 "ENST00000327355.6|NM_207446.3" +HGNC:26073 FAM174C family with sequence similarity 174 member C protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ20640 C19orf24 chromosome 19 open reading frame 24 2004-03-16 2019-06-20 2019-06-20 2019-06-20 55009 ENSG00000228300 OTTHUMG00000153928 uc002lrw.5 BC000890 NM_017914 CCDS12060 Q9BVV8 16847563 MGI:1917020 RGD:1562114 HGNC:26073 "ENST00000409293.6|NM_017914.4" +HGNC:19829 FAM177A1 family with sequence similarity 177 member A1 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 C14orf24 "chromosome 14 open reading frame 24|family with sequence similarity 177, member A1" 2003-01-13 2008-07-09 2015-11-18 2016-09-30 283635 ENSG00000151327 OTTHUMG00000140217 uc001wsq.4 BG722411 NM_173607 "CCDS41944|CCDS9653" Q8N128 MGI:1920635 RGD:2323636 619181 HGNC:19829 "ENST00000280987.9|NM_173607.5" +HGNC:34441 FAM177A1P1 family with sequence similarity 177 member A1 pseudogene 1 pseudogene pseudogene Approved 4q23 04q23 FAM177A2 "family with sequence similarity 177, member A2|family with sequence similarity 177, member A1 pseudogene 1" 2008-07-09 2012-04-19 2015-11-18 2016-09-30 728710 ENSG00000214886 OTTHUMG00000161228 NG_011746 HGNC:34441 +HGNC:34395 FAM177B family with sequence similarity 177 member B protein-coding gene gene with protein product Approved 1q41 01q41 "RP11-452F19.2|FLJ43505" family with sequence similarity 177, member B 2008-07-09 2015-11-18 2016-09-30 400823 ENSG00000197520 OTTHUMG00000037766 uc057pqu.1 AK125494 NM_207468 CCDS1535 A6PVY3 RGD:7728997 HGNC:34395 "ENST00000445590.4|NM_001394345.1" +HGNC:28036 FAM178B family with sequence similarity 178 member B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 LOC51252 family with sequence similarity 178, member B 2008-07-18 2015-11-18 2019-06-20 51252 ENSG00000168754 OTTHUMG00000155257 uc002sxj.4 "AF151068|BC039488" NM_016490 "CCDS46366|CCDS33252" Q8IXR5 11042152 MGI:3026913 RGD:1564591 HGNC:28036 "ENST00000490605.3|NM_001122646.3" +HGNC:33773 FAM180A family with sequence similarity 180 member A protein-coding gene gene with protein product Approved 7q33 07q33 "HWKM1940|UNQ1940" family with sequence similarity 180, member A 2008-07-21 2015-11-18 2016-09-30 389558 ENSG00000189320 OTTHUMG00000155537 uc003vtd.4 "AC091736|AK290250|AK310180|AY358803" NM_205855 CCDS5841 Q6UWF9 "12975309|12690205" MGI:3039626 RGD:1308013 HGNC:33773 "ENST00000338588.8|NM_205855.4" +HGNC:34451 FAM180B family with sequence similarity 180 member B protein-coding gene gene with protein product Approved 11p11.2 11p11.2 LOC399888 hypothetical gene supported by BC065704 family with sequence similarity 180, member B 2008-07-21 2015-11-18 2018-11-15 399888 ENSG00000196666 OTTHUMG00000167871 uc058bgt.1 BC065704 NM_001164379 Q6P0A1 12477932 RGD:11469551 HGNC:34451 "ENST00000538490.3|NM_001164379.3" +HGNC:20491 FAM181A family with sequence similarity 181 member A protein-coding gene gene with protein product Approved 14q32.12 14q32.12 C14orf152 "chromosome 14 open reading frame 152|family with sequence similarity 181, member A" 2004-06-11 2008-07-22 2015-11-18 2020-02-28 90050 ENSG00000140067 OTTHUMG00000171297 uc021say.2 BC009073 NM_138344 "CCDS9914|CCDS55939" Q8N9Y4 26407640 MGI:3647570 RGD:6504274 HGNC:20491 "ENST00000556222.2|NM_001207073.2" +HGNC:20133 FAM181A-AS1 FAM181A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.12 14q32.12 C14orf86 "chromosome 14 open reading frame 86|FAM181A antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-01-13 2011-12-07 2012-08-15 2020-11-09 283592 ENSG00000258584 OTTHUMG00000171296 uc001yby.2 NR_027004 33080570 FAM181A-AS1 HGNC:20133 +HGNC:28512 FAM181B family with sequence similarity 181 member B protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "LOC220382|MGC33846" family with sequence similarity 181, member B 2008-07-22 2015-11-18 2020-02-27 220382 ENSG00000182103 OTTHUMG00000166869 uc001ozp.4 "AK095054|BC039262" NM_175885 CCDS31648 A6NEQ2 26407640 MGI:1930951 RGD:1564695 HGNC:28512 "ENST00000329203.5|NM_175885.4" +HGNC:16222 FAM182A family with sequence similarity 182 member A non-coding RNA RNA, long non-coding Approved 20p11.1 20p11.1 "bB329D4.1|C20orf91A" C20orf91 "chromosome 20 open reading frame 91|family with sequence similarity 182, member A" Long non-coding RNAs with FAM root symbol 1993 2001-07-17 2008-08-05 2015-11-18 2017-12-01 284800 ENSG00000125804 OTTHUMG00000032144 uc010gdq.4 AL391119 NR_026713 Q5T1J6 HGNC:16222 +HGNC:34503 FAM182B family with sequence similarity 182 member B non-coding RNA RNA, long non-coding Approved 20p11.1 20p11.1 family with sequence similarity 182, member B Long non-coding RNAs with FAM root symbol 1993 2008-08-05 2015-11-18 2017-12-01 728882 ENSG00000175170 OTTHUMG00000032136 uc002wve.4 NR_026714 Q5T319 HGNC:34503 +HGNC:34347 FAM183A family with sequence similarity 183 member A protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "LOC440585|hCG23177" family with sequence similarity 183, member A 2008-08-11 2015-11-18 2019-11-20 440585 ENSG00000186973 OTTHUMG00000007286 uc009vwo.4 "AI192630|AI375550|AL139138" NM_001101376 CCDS44126 A6NL82 "11181995|30500859" MGI:1922679 RGD:1561932 HGNC:34347 "ENST00000335282.5|NM_001101376.3" +HGNC:34511 FAM183BP family with sequence similarity 183 member B, pseudogene pseudogene pseudogene Approved 7p14.1 07p14.1 LOC340286 FAM183B "family with sequence similarity 183, member B|family with sequence similarity 183, member B, pseudogene" 2008-08-11 2015-08-27 2015-11-18 2016-09-30 340286 ENSG00000164556 OTTHUMG00000153653 "AK124132|BC045803" NR_028347 Q6ZVS7 MGI:1922679 HGNC:34511 +HGNC:51331 FAM183DP family with sequence similarity 183 member D, pseudogene pseudogene pseudogene Approved 2q12.1 02q12.1 family with sequence similarity 183, member D, pseudogene 2014-10-06 2015-11-18 2016-09-30 101060105 ENSG00000205716 OTTHUMG00000153041 XR_007087162 PGOHUM00000298046 HGNC:51331 +HGNC:51332 FAM183EP family with sequence similarity 183 member E, pseudogene pseudogene pseudogene Approved 1q41 01q41 family with sequence similarity 183, member E, pseudogene 2014-10-06 2015-11-18 2017-01-19 107403081 NG_046798 PGOHUM00000296056 HGNC:51332 +HGNC:20991 FAM184A family with sequence similarity 184 member A protein-coding gene gene with protein product Approved 6q22.31 06q22.31 FLJ13942 C6orf60 "chromosome 6 open reading frame 60|family with sequence similarity 184, member A" MicroRNA protein coding host genes 1691 2003-04-30 2008-08-14 2015-11-18 2018-04-16 79632 ENSG00000111879 OTTHUMG00000015471 uc003pyj.5 BC009055 NM_024581 "CCDS75508|CCDS43499|CCDS43500" Q8NB25 11230166 MGI:1923156 RGD:1311294 HGNC:20991 "ENST00000338891.12|NM_024581.6" +HGNC:29235 FAM184B family with sequence similarity 184 member B protein-coding gene gene with protein product Approved 4p15.32-p15.31 04p15.32-p15.31 KIAA1276 family with sequence similarity 184, member B 2008-08-14 2015-11-18 2018-02-13 27146 ENSG00000047662 OTTHUMG00000160287 uc003gpm.5 NM_015688 CCDS47033 Q9ULE4 10574462 MGI:2442958 RGD:1564950 HGNC:29235 "ENST00000265018.4|NM_015688.2" +HGNC:22412 FAM185A family with sequence similarity 185 member A protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MGC35361 family with sequence similarity 185, member A 2008-09-17 2015-11-18 2018-04-16 222234 ENSG00000222011 OTTHUMG00000154140 uc011klg.3 BC029175 NM_001145268 "CCDS47676|CCDS47677" Q8N0U4 MGI:2140983 RGD:1562135 HGNC:22412 "ENST00000413034.3|NM_001145268.2" +HGNC:21813 FAM185BP family with sequence similarity 185 member B, pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 FAM185B family with sequence similarity 185, member B pseudogene 2008-09-17 2011-05-04 2015-11-18 2016-09-30 641808 ENSG00000214439 OTTHUMG00000154141 XM_001717516 PGOHUM00000232895 HGNC:21813 +HGNC:26980 FAM186A family with sequence similarity 186 member A protein-coding gene gene with protein product Approved 12q13.12 12q13.12 LOC121006 family with sequence similarity 186, member A 2008-09-17 2015-11-18 2018-11-15 121006 ENSG00000185958 OTTHUMG00000167889 uc001rwl.3 NM_001145475 CCDS44878 A6NE01 MGI:2685766 RGD:7623601 HGNC:26980 "ENST00000327337.6|NM_001145475.3" +HGNC:25296 FAM186B family with sequence similarity 186 member B protein-coding gene gene with protein product Approved 12q13.12 12q13.12 DKFZP434J0113 C12orf25 "chromosome 12 open reading frame 25|family with sequence similarity 186, member B" 2006-01-10 2008-09-17 2015-11-18 2016-09-30 84070 ENSG00000135436 OTTHUMG00000167427 uc001ruo.4 AL136748 NM_032130 CCDS8788 Q8IYM0 11230166 MGI:3647604 RGD:1559522 HGNC:25296 "ENST00000257894.2|NM_032130.3" +HGNC:35153 FAM187A family with sequence similarity 187 member A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 family with sequence similarity 187, member A V-set domain containing 590 2008-10-16 2015-11-18 2020-01-21 100528020 ENSG00000214447 OTTHUMG00000154266 uc002iho.4 NM_001258400 CCDS86601 A6NFU0 MGI:1914034 RGD:1307851 HGNC:35153 +HGNC:26366 FAM187B family with sequence similarity 187 member B protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ25660 TMEM162 "transmembrane protein 162|family with sequence similarity 187, member B" 2006-06-21 2008-10-16 2015-11-18 2016-09-30 148109 ENSG00000177558 OTTHUMG00000164450 uc002nyk.2 AK098526 NM_152481 CCDS12448 Q17R55 MGI:1923665 RGD:1597448 HGNC:26366 "ENST00000324675.4|NM_152481.2" +HGNC:49213 FAM187B2P family with sequence similarity 187 member B2, pseudogene pseudogene pseudogene Approved 19q13.12 19q13.12 family with sequence similarity 187, member B2, pseudogene 2013-10-09 2015-11-18 2016-09-30 100421621 ENSG00000262497 OTTHUMG00000177833 NG_024180 PGOHUM00000234290 HGNC:49213 +HGNC:29075 FAM189A1 family with sequence similarity 189 member A1 protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "KIAA0574|TMEM228" transmembrane protein 228 family with sequence similarity 189, member A1 2009-07-09 2015-11-18 2022-03-03 23359 ENSG00000104059 OTTHUMG00000172185 uc010azk.2 NM_015307 CCDS45198 O60320 9628581 MGI:1917888 RGD:1592985 HGNC:29075 "ENST00000261275.5|NM_015307.2" +HGNC:24820 FAM189A2 family with sequence similarity 189 member A2 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 "X123|ENTREP" endosomal transmembrane binding with epsin C9orf61 "chromosome 9 open reading frame 61|family with sequence similarity 189, member A2" 2004-01-06 2009-07-09 2015-11-18 2022-02-04 9413 ENSG00000135063 OTTHUMG00000019979 uc010mon.1 L27479 NM_004816 "CCDS87658|CCDS6629" Q15884 "7951235|34927784" MGI:2685813 RGD:1307524 607710 HGNC:24820 "ENST00000303068.14|NM_001347995.2" HGNC:24820 +HGNC:1233 FAM189B family with sequence similarity 189 member B protein-coding gene gene with protein product Approved 1q22 01q22 cote1 C1orf2 "chromosome 1 open reading frame 2|family with sequence similarity 189, member B" 1998-10-14 2009-07-09 2015-11-18 2022-02-04 10712 ENSG00000160767 OTTHUMG00000035844 uc001fjm.4 AF070550 NM_006589 "CCDS58035|CCDS1103|CCDS1104" P81408 "9331372|15064722" MGI:1915771 RGD:1306107 619447 HGNC:1233 "ENST00000361361.7|NM_006589.3" +HGNC:37194 FAM192BP family with sequence similarity 192 member B, pseudogene pseudogene pseudogene Approved 4q31.3 04q31.3 rcNIP30 FAM192B "family with sequence similarity 192, member B pseudogene|family with sequence similarity 192, member B, pseudogene" 2009-08-19 2011-04-15 2015-11-18 2016-10-24 152667 ENSG00000231841 OTTHUMG00000161465 NG_007351 16201836 PGOHUM00000300401 HGNC:37194 +HGNC:16822 FAM193A family with sequence similarity 193 member A protein-coding gene gene with protein product Approved 4p16.3 04p16.3 RES4-22 C4orf8 "chromosome 4 open reading frame 8|family with sequence similarity 193, member A" 2003-01-08 2009-09-04 2015-11-18 2016-10-24 8603 ENSG00000125386 OTTHUMG00000160512 uc003gfd.4 AB000459 NM_003704 "CCDS58875|CCDS58876|CCDS58874|CCDS33943" P78312 9734812 MGI:2447768 RGD:1309634 HGNC:16822 "ENST00000637812.2|NM_001366318.2" +HGNC:25524 FAM193B family with sequence similarity 193 member B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "KIAA1931|FLJ10404|IRIZIO" family with sequence similarity 193, member B 2009-09-04 2015-11-18 2016-10-05 54540 ENSG00000146067 OTTHUMG00000163396 uc003mhu.4 NM_019057 CCDS54954 Q96PV7 "11572484|26188516|21177767" MGI:2385851 RGD:1562335 615813 HGNC:25524 "ENST00000514747.6|NM_001190946.3" +HGNC:55212 FAM193B-DT FAM193B divergent transcript non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Divergent transcripts 1990 2020-08-21 2020-08-21 105377750 ENSG00000272459 XR_007059074 +HGNC:37464 FAM197Y1 family with sequence similarity 197 Y-linked member 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 FAM197Y1P "family with sequence similarity 197, Y-linked, member 1|family with sequence similarity 197 Y-linked member 1, pseudogene" 2009-10-16 2017-01-20 2017-01-20 2017-01-20 100289265 ENSG00000224336 OTTHUMG00000187490 +HGNC:18848 FAM197Y2 family with sequence similarity 197 Y-linked member 2 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 "CYorf16|FAM197Y2P" "chromosome Y open reading frame 16|family with sequence similarity 197, Y-linked, member 2, pseudogene|family with sequence similarity 197 Y-linked member 2, pseudogene" Long non-coding RNAs with FAM root symbol 1993 2002-07-22 2017-01-20 2017-01-20 2017-01-20 252946 ENSG00000234803 OTTHUMG00000041523 AF527835 NR_001553 HGNC:18848 +HGNC:37465 FAM197Y3 family with sequence similarity 197 Y-linked member 3 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 family with sequence similarity 197, Y-linked, member 3 Long non-coding RNAs with FAM root symbol 1993 2009-10-16 2015-11-19 2020-04-20 107987341 ENSG00000230066 OTTHUMG00000041521 NR_145461 HGNC:37465 +HGNC:37466 FAM197Y4 family with sequence similarity 197 Y-linked member 4 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 FAM197Y4P "family with sequence similarity 197, Y-linked, member 4, pseudogene|family with sequence similarity 197 Y-linked member 4, pseudogene" Long non-coding RNAs with FAM root symbol 1993 2009-10-16 2017-01-20 2017-01-20 2017-01-20 100289188 ENSG00000274196 OTTHUMG00000187486 NR_145470 HGNC:37466 +HGNC:37467 FAM197Y5 family with sequence similarity 197 Y-linked member 5 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 FAM197Y5P "family with sequence similarity 197, Y-linked, member 5, pseudogene|family with sequence similarity 197 Y-linked member 5, pseudogene" Long non-coding RNAs with FAM root symbol 1993 2009-10-16 2017-01-20 2017-01-20 2017-01-20 100289150 ENSG00000225516 OTTHUMG00000187485 uc004frv.2 NR_046300 HGNC:37467 +HGNC:37468 FAM197Y6 family with sequence similarity 197 Y-linked member 6 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 family with sequence similarity 197, Y-linked, member 6 Long non-coding RNAs with FAM root symbol 1993 2009-10-16 2015-11-19 2020-04-20 105379270 ENSG00000237802 OTTHUMG00000041534 NR_145469 HGNC:37468 +HGNC:37469 FAM197Y7 family with sequence similarity 197 Y-linked member 7 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 FAM197Y7P "family with sequence similarity 197, Y-linked, member 7, pseudogene|family with sequence similarity 197 Y-linked member 7, pseudogene" Long non-coding RNAs with FAM root symbol 1993 2009-10-16 2017-01-20 2017-01-20 2020-04-20 105379269 ENSG00000228383 OTTHUMG00000041532 NR_145460 HGNC:37469 +HGNC:37470 FAM197Y8 family with sequence similarity 197 Y-linked member 8 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 family with sequence similarity 197, Y-linked, member 8 Long non-coding RNAs with FAM root symbol 1993 2009-10-16 2015-11-19 2020-04-20 105379268 ENSG00000225560 OTTHUMG00000187512 NR_145468 HGNC:37470 +HGNC:37477 FAM197Y9 family with sequence similarity 197 Y-linked member 9 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 family with sequence similarity 197, Y-linked, member 9 Long non-coding RNAs with FAM root symbol 1993 2009-10-22 2015-11-19 2017-01-20 100132932 ENSG00000234830 OTTHUMG00000040949 NR_145462 HGNC:37477 +HGNC:37627 FAM197Y10 family with sequence similarity 197 Y-linked member 10 pseudogene pseudogene Approved Yq11.223 Yq11.223 family with sequence similarity 197, Y-linked, member 10 2009-11-25 2015-11-19 2020-01-21 100288465 ENSG00000235719 OTTHUMG00000042041 +HGNC:25195 FAM199X family with sequence similarity 199, X-linked protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 CXorf39 chromosome X open reading frame 39 2004-09-06 2010-02-11 2010-02-11 2017-01-06 139231 ENSG00000123575 OTTHUMG00000022126 uc004elw.4 BC016683 NM_207318 CCDS35364 Q6PEV8 MGI:2384304 RGD:1591830 HGNC:25195 "ENST00000493442.2|NM_207318.4" +HGNC:23951 FAM199YP family with sequence similarity 199, Y-linked, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 FAM199Y 2010-02-11 2016-09-30 360029 NG_002952 12815422 HGNC:23951 +HGNC:25401 FAM200A family with sequence similarity 200 member A protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FLJ36794|DKFZp727G131" C7orf38 "chromosome 7 open reading frame 38|family with sequence similarity 200, member A" 2006-03-20 2010-02-22 2015-11-18 2016-09-30 221786 ENSG00000221909 OTTHUMG00000156723 uc003ura.4 NM_145111 CCDS5668 Q8TCP9 10607616 HGNC:25401 "ENST00000449309.2|NM_145111.4" +HGNC:27740 FAM200B family with sequence similarity 200 member B protein-coding gene gene with protein product Approved 4p15.32 04p15.32 C4orf53 chromosome 4 open reading frame 53 family with sequence similarity 200, member B 2010-02-22 2015-11-18 2016-09-30 285550 ENSG00000237765 OTTHUMG00000160279 uc003gof.5 BC048993 NM_001145191 CCDS47028 P0CF97 HGNC:27740 "ENST00000422728.3|NM_001145191.2" +HGNC:27239 FAM201A family with sequence similarity 201 member A non-coding RNA RNA, long non-coding Approved 9p13.1 09p13.1 C9orf122 "chromosome 9 open reading frame 122|family with sequence similarity 201, member A" Long non-coding RNAs with FAM root symbol 1993 2004-04-15 2010-07-02 2015-11-18 2019-03-14 158228 ENSG00000204860 OTTHUMG00000019948 uc064tef.1 BC041970 NR_027294 Q5SY85 30574162 FAM201A HGNC:27239 +HGNC:27933 FAM201B family with sequence similarity 201 member B non-coding RNA RNA, long non-coding Approved 2q21.2 02q21.2 family with sequence similarity 201, member B Long non-coding RNAs with FAM root symbol 1993 2010-07-02 2015-11-18 2019-03-06 339742 ENSG00000230992 OTTHUMG00000153605 BC045732 NR_135203 12477932 HGNC:27933 +HGNC:25794 FAM204A family with sequence similarity 204 member A protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "FLJ13188|bA319I23.1" C10orf84 "chromosome 10 open reading frame 84|family with sequence similarity 204, member A" 2004-03-16 2011-06-01 2015-11-18 2016-10-05 63877 ENSG00000165669 OTTHUMG00000019131 uc001ldo.3 AK023250 NM_022063 CCDS7605 Q9H8W3 12477932 MGI:1289174 RGD:1305500 HGNC:25794 "ENST00000369183.9|NM_022063.3" +HGNC:42011 FAM204BP family with sequence similarity 204 member B, pseudogene pseudogene pseudogene Approved 1q31.3 01q31.3 family with sequence similarity 204, member B, pseudogene 2011-06-01 2015-11-18 2016-09-30 100420875 ENSG00000233040 OTTHUMG00000035650 NG_027030 PGOHUM00000244384 HGNC:42011 +HGNC:42012 FAM204CP family with sequence similarity 204 member C, pseudogene pseudogene pseudogene Approved 13q22.2 13q22.2 family with sequence similarity 204, member C, pseudogene 2011-06-01 2015-11-18 2016-09-30 100420916 ENSG00000230902 OTTHUMG00000017092 NG_024869 PGOHUM00000248441 HGNC:42012 +HGNC:42013 FAM204DP family with sequence similarity 204 member D, pseudogene pseudogene pseudogene Approved 14q24.3 14q24.3 family with sequence similarity 204, member D, pseudogene 2011-06-01 2015-11-18 2018-05-04 100420963 ENSG00000258552 OTTHUMG00000171576 NG_027293 PGOHUM00000257966 HGNC:42013 +HGNC:41911 FAM205A family with sequence similarity 205 member A protein-coding gene gene with protein product Approved 9p13.3 09p13.3 C9orf144B family with sequence similarity 205, member A 2011-08-15 2015-11-18 2018-06-26 259308 ENSG00000205108 OTTHUMG00000000448 uc011lor.3 NM_001141917 CCDS55305 Q6ZU69 29930801 "MGI:3651059|MGI:3701946|MGI:5434294|MGI:5434953" RGD:2320471 HGNC:41911 "ENST00000378788.4|NM_001141917.2" +HGNC:24504 FAM205BP family with sequence similarity 205 member B, pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 "DKFZp434J193|C9orf144A" "C9orf144|FAM205B" "chromosome 9 open reading frame 144|family with sequence similarity 205, member B|family with sequence similarity 205, member B, pseudogene" 2006-06-30 2014-10-06 2015-11-18 2016-09-30 389715 ENSG00000257198 OTTHUMG00000019839 NR_024481 Q63HN1 HGNC:24504 +HGNC:42673 FAM205C family with sequence similarity 205 member C protein-coding gene gene with protein product Approved 9p13.3 09p13.3 FAM205CP "family with sequence similarity 205, member C, pseudogene|family with sequence similarity 205, member C" 2011-08-15 2015-06-02 2015-11-18 2016-09-30 100129969 ENSG00000187791 OTTHUMG00000019841 NM_001309426 "CCDS83359|CCDS83358" A6NFA0 MGI:2679716 RGD:1561387 PGOHUM00000250492 HGNC:42673 "ENST00000340783.11|NM_001309427.2" +HGNC:39715 FAM207BP family with sequence similarity 207 member B, pseudogene pseudogene pseudogene Approved 13q11 13q11 family with sequence similarity 207, member B, pseudogene 2011-08-15 2015-11-18 2016-09-30 729535 ENSG00000228797 OTTHUMG00000016463 NG_021965 PGOHUM00000248501 HGNC:39715 +HGNC:42676 FAM207CP family with sequence similarity 207 member C, pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 "family with sequence similarity 207, member C|family with sequence similarity 207, member C, pseudogene" 2011-08-15 2015-11-18 2016-09-30 727987 ENSG00000232797 OTTHUMG00000074236 NG_021995 PGOHUM00000239135 HGNC:42676 +HGNC:16100 FAM209A family with sequence similarity 209 member A protein-coding gene gene with protein product Approved 20q13.31 20q13.31 dJ1153D9.3 C20orf106 "chromosome 20 open reading frame 106|family with sequence similarity 209, member A" 2001-07-17 2011-11-24 2015-11-18 2016-09-30 200232 ENSG00000124103 OTTHUMG00000032799 uc002xxx.4 AL109806 NM_001012971 CCDS33493 Q5JX71 MGI:1923676 HGNC:16100 "ENST00000371328.5|NM_001012971.4" +HGNC:16101 FAM209B family with sequence similarity 209 member B protein-coding gene gene with protein product Approved 20q13.31 20q13.31 dJ1153D9.4 C20orf107 "chromosome 20 open reading frame 107|family with sequence similarity 209, member B" 2001-07-17 2011-11-24 2015-11-18 2016-09-30 388799 ENSG00000213714 OTTHUMG00000032800 uc002xxz.5 AL109806 NM_001013646 CCDS33494 Q5JX69 MGI:1923676 RGD:1307805 HGNC:16101 "ENST00000371325.1|NM_001013646.4" +HGNC:28346 FAM210A family with sequence similarity 210 member A protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "MGC24180|HsT2329" C18orf19 "chromosome 18 open reading frame 19|family with sequence similarity 210, member A" 2004-05-05 2011-11-24 2015-11-18 2022-01-07 125228 ENSG00000177150 OTTHUMG00000131719 uc010dli.4 AK055618 NM_152352 CCDS11866 Q96ND0 "14702039|29618611" MGI:1914000 RGD:1359600 617975 HGNC:28346 "ENST00000651643.1|NM_152352.4" +HGNC:16102 FAM210B family with sequence similarity 210 member B protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "dJ1167H4.1|DKFZP434A1114" hypothetical protein LOC116151 C20orf108 "chromosome 20 open reading frame 108|family with sequence similarity 210, member B" 2001-07-17 2011-11-24 2015-11-18 2022-01-07 116151 ENSG00000124098 OTTHUMG00000032793 uc002xxc.4 AL121914 NM_080821 CCDS13450 Q96KR6 "11780052|26968549|30366982" MGI:1914267 RGD:1311378 618722 HGNC:16102 "ENST00000371384.4|NM_080821.3" +HGNC:44938 FAM210CP family with sequence similarity 210 member C, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 family with sequence similarity 210, member C, pseudogene 2012-12-19 2015-11-18 2016-09-30 100131328 ENSG00000213770 OTTHUMG00000017858 NG_022141 PGOHUM00000238380 HGNC:44938 +HGNC:25609 FAM214A family with sequence similarity 214 member A protein-coding gene gene with protein product Approved 15q21.2-q21.3 15q21.2-q21.3 FLJ10980 KIAA1370 "KIAA1370|family with sequence similarity 214, member A" 2005-10-24 2011-12-01 2015-11-18 2018-02-13 56204 ENSG00000047346 OTTHUMG00000172688 uc002acg.6 AB037791 NM_019600 "CCDS45263|CCDS66773" Q32MH5 10718198 MGI:2387648 RGD:1310552 HGNC:25609 "ENST00000619572.5|NM_001385016.1" +HGNC:25666 FAM214B family with sequence similarity 214 member B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "FLJ11560|bA182N22.6" KIAA1539 "KIAA1539|family with sequence similarity 214, member B" 2004-02-13 2011-12-01 2015-11-18 2016-10-05 80256 ENSG00000005238 OTTHUMG00000019847 uc064swj.1 AB040972 NM_025182 CCDS6578 Q7L5A3 10819331 MGI:2441854 RGD:1311249 HGNC:25666 "ENST00000322813.10|NM_025182.4" +HGNC:54597 FAM214BP1 FAM214B pseudogene 1 pseudogene pseudogene Approved 3q13.31 03q13.31 2019-10-16 2020-01-21 645180 ENSG00000240487 OTTHUMG00000159330 NG_022216 PGOHUM00000299140 +HGNC:17505 FAM215A family with sequence similarity 215 member A non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 "APR-2|LINC00530" long intergenic non-protein coding RNA 530 C17orf88 "chromosome 17 open reading frame 88|family with sequence similarity 215, member A (non-protein coding)|family with sequence similarity 215 member A (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2007-07-19 2011-12-08 2018-05-17 2018-05-17 23591 ENSG00000267496 OTTHUMG00000181798 uc010wiq.3 AF143236 NR_026770 Q9Y5M1 "10948432|27667152" FAM215A HGNC:17505 +HGNC:43639 FAM215B family with sequence similarity 215 member B non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 ARL17A-IT1 ARL17A intronic transcript 1 (non-protein coding) "family with sequence similarity 215, member B (non-protein coding)|family with sequence similarity 215 member B (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2011-12-08 2018-05-17 2018-05-17 644297 ENSG00000232300 OTTHUMG00000190258 uc060gld.1 BC044941 FAM215B HGNC:43639 +HGNC:30180 FAM216A family with sequence similarity 216 member A protein-coding gene gene with protein product Approved 12q24.11 12q24.11 HSU79274 C12orf24 "chromosome 12 open reading frame 24|family with sequence similarity 216, member A" 2006-01-04 2012-02-07 2015-11-18 2016-09-30 29902 ENSG00000204856 OTTHUMG00000169526 uc001tqu.5 U79274 NM_013300 CCDS31899 Q8WUB2 MGI:1916198 RGD:1310861 HGNC:30180 "ENST00000377673.10|NM_013300.3" +HGNC:26883 FAM216B family with sequence similarity 216 member B protein-coding gene gene with protein product Approved 13q14.11 13q14.11 FLJ40919 C13orf30 "chromosome 13 open reading frame 30|family with sequence similarity 216, member B" 2006-08-04 2012-02-07 2015-11-18 2016-09-30 144809 ENSG00000179813 OTTHUMG00000016809 uc010tfk.3 AK098238 NM_182508 CCDS9386 Q8N7L0 MGI:2145738 RGD:1560137 HGNC:26883 "ENST00000313851.3|NM_001318932.2" +HGNC:21362 FAM217A family with sequence similarity 217 member A protein-coding gene gene with protein product Approved 6p25.2 06p25.2 MGC43581 C6orf146 "chromosome 6 open reading frame 146|family with sequence similarity 217, member A" 2003-06-10 2012-02-07 2015-11-18 2016-10-05 222826 ENSG00000145975 OTTHUMG00000014159 uc003mvx.4 BC039349 NM_173563 CCDS4489 Q8IXS0 MGI:1919114 RGD:1566214 HGNC:21362 "ENST00000274673.8|NM_173563.3" +HGNC:49613 FAM217AP1 family with sequence similarity 217 member A pseudogene 1 pseudogene pseudogene Approved 9p24.3 09p24.3 family with sequence similarity 217, member A pseudogene 1 2014-01-24 2015-11-18 2016-09-30 100133062 NG_021639 PGOHUM00000236352 HGNC:49613 +HGNC:16170 FAM217B family with sequence similarity 217 member B protein-coding gene gene with protein product Approved 20q13.33 20q13.33 dJ551D2.5 C20orf177 "chromosome 20 open reading frame 177|family with sequence similarity 217, member B" 2001-07-17 2012-02-07 2015-11-18 2016-09-30 63939 ENSG00000196227 OTTHUMG00000032873 uc002yba.4 AL109928 NM_022106 CCDS13484 Q9NTX9 MGI:1918782 RGD:1311952 HGNC:16170 "ENST00000360816.8|NM_022106.3" +HGNC:26466 FAM218A family with sequence similarity 218 member A non-coding RNA RNA, long non-coding Approved 4q32.3 04q32.3 "FLJ31659|TRIM61-AS1" TRIM61 antisense RNA 1 C4orf39 "chromosome 4 open reading frame 39|family with sequence similarity 218, member A" Long non-coding RNAs with FAM root symbol 1993 2007-07-10 2012-03-01 2015-11-18 2019-09-20 152756 ENSG00000250486 OTTHUMG00000161252 uc003iqx.2 AK056221 NR_160935 Q96MZ4 29982784 HGNC:26466 +HGNC:43779 FAM218BP family with sequence similarity 218 member B, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 family with sequence similarity 218, member B, pseudogene 2012-03-01 2015-11-18 2019-09-20 101059914 ENSG00000221891 OTTHUMG00000161269 NG_046631 PGOHUM00000245754 HGNC:43779 +HGNC:19920 FAM219A family with sequence similarity 219 member A protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA573M23.5|FLJ39031" C9orf25 "chromosome 9 open reading frame 25|family with sequence similarity 219, member A" 2002-12-03 2012-03-06 2015-11-18 2017-07-11 203259 ENSG00000164970 OTTHUMG00000019822 uc003zuj.4 AK096350 NM_001184940 "CCDS6556|CCDS55304" Q8IW50 "9110174|8619474" MGI:1919151 RGD:1588668 HGNC:19920 "ENST00000651358.1|NM_001184940.2" +HGNC:24695 FAM219B family with sequence similarity 219 member B protein-coding gene gene with protein product Approved 15q24.1-q24.2 15q24.1-q24.2 FLJ00005 C15orf17 "chromosome 15 open reading frame 17|family with sequence similarity 219, member B" 2004-01-08 2012-03-06 2015-11-18 2018-02-13 57184 ENSG00000178761 OTTHUMG00000172715 uc002azh.4 AK000005 NM_020447 CCDS32295 Q5XKK7 11214971 MGI:1925573 RGD:1310727 HGNC:24695 "ENST00000357635.10|NM_020447.5" +HGNC:22422 FAM220A family with sequence similarity 220 member A protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "SIPAR|MGC12966|ACPIN1" "STAT3-interacting protein as a repressor|acrosomal protein 1" C7orf70 "chromosome 7 open reading frame 70|family with sequence similarity 220, member A" 2009-04-20 2012-03-19 2015-11-18 2017-01-18 84792 ENSG00000178397 OTTHUMG00000122091 uc064bhn.1 BC006110 NM_001037163 CCDS34599 Q7Z4H9 "19659802|23917203|26026268" MGI:1914488 RGD:1561923 616628 HGNC:22422 "ENST00000313324.9|NM_001037163.2" +HGNC:23678 FAM220BP family with sequence similarity 220 member B, pseudogene pseudogene pseudogene Approved 9p13.1 09p13.1 bA392E22.4 C9orf51 "chromosome 9 open reading frame 51|family with sequence similarity 220, member B, pseudogene" 2005-12-22 2012-03-19 2015-11-18 2016-10-05 647044 ENSG00000176007 OTTHUMG00000019947 AL390726 NG_041772 B1ANY3 MGI:1914488 HGNC:23678 +HGNC:43640 FAM220CP family with sequence similarity 220 member C, pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 family with sequence similarity 220, member C, pseudogene 2012-03-19 2015-11-18 2016-09-30 100507415 ENSG00000213612 OTTHUMG00000020316 PGOHUM00000263245 HGNC:43640 +HGNC:27977 FAM221A family with sequence similarity 221 member A protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "FLJ45875|MGC72075|DKFZp686F0810" C7orf46 "chromosome 7 open reading frame 46|family with sequence similarity 221, member A" 2006-08-25 2012-04-02 2015-11-18 2016-09-30 340277 ENSG00000188732 OTTHUMG00000128463 uc003swo.4 NM_199136 "CCDS5385|CCDS47561|CCDS75570|CCDS47562" A4D161 12477932 MGI:2442161 RGD:1563175 HGNC:27977 "ENST00000344962.9|NM_199136.5" +HGNC:30762 FAM221B family with sequence similarity 221 member B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 C9orf128 "chromosome 9 open reading frame 128|family with sequence similarity 221, member B" 2004-04-16 2012-04-02 2015-11-18 2016-09-30 392307 ENSG00000204930 OTTHUMG00000019880 uc010mlc.3 BX648702 NM_001012446 CCDS43799 A6H8Z2 MGI:2441678 RGD:1310425 HGNC:30762 "ENST00000423537.7|NM_001012446.4" +HGNC:25915 FAM222A family with sequence similarity 222 member A protein-coding gene gene with protein product Approved 12q24.11 12q24.11 FLJ14721 aggregatin C12orf34 "chromosome 12 open reading frame 34|family with sequence similarity 222, member A" 2006-01-20 2012-04-27 2015-11-18 2020-11-09 84915 ENSG00000139438 OTTHUMG00000169260 uc001tpd.3 AK027627 NM_032829 CCDS9133 Q5U5X8 31964863 MGI:3605543 RGD:1565883 HGNC:25915 "ENST00000538780.2|NM_032829.3" +HGNC:28223 FAM222A-AS1 FAM222A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.11 12q24.11 FAM222A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-04-27 2012-08-15 2012-10-12 84983 ENSG00000255650 OTTHUMG00000169261 uc031qjl.2 NR_026661 12477932 FAM222A-AS1 HGNC:28223 +HGNC:25563 FAM222B family with sequence similarity 222 member B protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FLJ10700 C17orf63 "chromosome 17 open reading frame 63|family with sequence similarity 222, member B" 2005-12-16 2012-04-27 2015-11-18 2017-01-18 55731 ENSG00000173065 OTTHUMG00000179495 uc010way.3 AK001562 NM_018182 "CCDS74022|CCDS45637" Q8WU58 27587990 MGI:2384939 RGD:1566149 HGNC:25563 "ENST00000581407.6|NM_001077498.3" +HGNC:30612 FAM223A family with sequence similarity 223 member A non-coding RNA RNA, long non-coding Approved Xq28 Xq28 SPCX "CXorf52|NCRNA00204|NCRNA00204A|LINC00204A" "chromosome X open reading frame 52|non-protein coding RNA 204|non-protein coding RNA 204A|long intergenic non-protein coding RNA 204A|family with sequence similarity 223, member A (non-protein coding)|family with sequence similarity 223 member A (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2004-12-03 2012-07-04 2018-05-17 2018-05-17 100132967 ENSG00000279245 OTTHUMG00000057425 uc065chs.1 AY168775 NR_027401 Q8IWN6 FAM223A HGNC:30612 +HGNC:34048 FAM223B family with sequence similarity 223 member B non-coding RNA RNA, long non-coding Approved Xq28 Xq28 "CXorf52B|NCRNA00204B|LINC00204B" "chromosome X open reading frame 52B|non-protein coding RNA 204B|long intergenic non-protein coding RNA 204B|family with sequence similarity 223, member B (non-protein coding)|family with sequence similarity 223 member B (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2008-04-02 2012-07-04 2018-05-17 2018-05-17 286967 ENSG00000272681 OTTHUMG00000188665 uc033fby.2 NR_027402 A6NKX1 FAM223B HGNC:34048 +HGNC:37736 FAM224A family with sequence similarity 224 member A non-coding RNA RNA, long non-coding Approved Yq11.222 Yq11.222 "NCRNA00230A|LINC00230A" "non-protein coding RNA 230A|long intergenic non-protein coding RNA 230A|family with sequence similarity 224, member A (non-protein coding)|family with sequence similarity 224 member A (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2010-02-10 2012-07-04 2018-05-17 2018-05-17 401630 ENSG00000233522 OTTHUMG00000041969 uc065ctb.1 AK026667 NR_002161 FAM224A HGNC:37736 +HGNC:37737 FAM224B family with sequence similarity 224 member B non-coding RNA RNA, long non-coding Approved Yq11.222 Yq11.222 "NCRNA00230B|LINC00230B" "non-protein coding RNA 230B|long intergenic non-protein coding RNA 230B|family with sequence similarity 224, member B (non-protein coding)|family with sequence similarity 224 member B (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2010-02-10 2012-07-04 2018-05-17 2020-04-20 401629 ENSG00000230663 OTTHUMG00000036416 uc065csr.1 AI819212 NR_002160 FAM224B HGNC:37737 +HGNC:27855 FAM225A family with sequence similarity 225 member A non-coding RNA RNA, long non-coding Approved 9q32 09q32 DKFZp686A0127 "C9orf109|NCRNA00256A|LINC00256A" "chromosome 9 open reading frame 109|non-protein coding RNA 256A|long intergenic non-protein coding RNA 256A|family with sequence similarity 225, member A (non-protein coding)|family with sequence similarity 225 member A (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2004-08-25 2012-07-04 2018-05-17 2021-02-08 286333 ENSG00000231528 OTTHUMG00000020516 uc064vdd.1 AL832752 NR_024366 33442405 FAM225A HGNC:27855 +HGNC:21865 FAM225B family with sequence similarity 225 member B non-coding RNA RNA, long non-coding Approved 9q32 09q32 "C9orf110|NCRNA00256B|LINC00256B" "chromosome 9 open reading frame 110|non-protein coding RNA 256B|long intergenic non-protein coding RNA 256B|family with sequence similarity 225, member B (non-protein coding)|family with sequence similarity 225 member B (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2004-08-25 2012-07-04 2018-05-17 2018-05-17 100128385 ENSG00000225684 OTTHUMG00000020515 uc064vdc.1 BX647840 NR_024376 FAM225B HGNC:21865 +HGNC:28544 FAM226A family with sequence similarity 226 member A non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 MGC34827 "CXorf50|NCRNA00246|NCRNA00246A|LINC00246A" "chromosome X open reading frame 50|non-protein coding RNA 246|non-protein coding RNA 246A|long intergenic non-protein coding RNA 246A|family with sequence similarity 226, member A (non-protein coding)|family with sequence similarity 226 member A (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2004-12-03 2012-07-04 2018-05-17 2018-05-17 203429 BC041962 NR_026595 12477932 HGNC:28544 +HGNC:31964 FAM226B family with sequence similarity 226 member B non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 "CXorf50B|NCRNA00246B|LINC00246B" "chromosome X open reading frame 50B|non-protein coding RNA 246B|long intergenic non-protein coding RNA 246B|family with sequence similarity 226, member B (non-protein coding)|family with sequence similarity 226 member B (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2007-08-03 2012-07-04 2018-05-17 2020-04-20 653687 ENSG00000269911 BC025725 NR_026594 16382448 HGNC:31964 +HGNC:44197 FAM227A family with sequence similarity 227 member A protein-coding gene gene with protein product Approved 22q13.1 22q13.1 family with sequence similarity 227, member A 2012-07-04 2015-11-18 2016-09-30 646851 ENSG00000184949 OTTHUMG00000151133 uc062egg.1 NM_001013647 F5H4B4 MGI:1922979 RGD:1305939 HGNC:44197 "ENST00000535113.7|NM_001013647.2" +HGNC:26543 FAM227B family with sequence similarity 227 member B protein-coding gene gene with protein product Approved 15q21.2 15q21.2 FLJ32800 C15orf33 "chromosome 15 open reading frame 33|family with sequence similarity 227, member B" 2005-10-20 2012-07-04 2015-11-18 2016-09-30 196951 ENSG00000166262 OTTHUMG00000172328 uc001zxl.3 NM_152647 "CCDS32237|CCDS81880" Q96M60 MGI:1923073 RGD:1359452 HGNC:26543 "ENST00000299338.11|NM_152647.3" +HGNC:34418 FAM228A family with sequence similarity 228 member A protein-coding gene gene with protein product Approved 2p23.3 02p23.3 FLJ30851 C2orf84 "chromosome 2 open reading frame 84|family with sequence similarity 228, member A" 2009-01-26 2012-07-04 2015-11-18 2020-02-03 653140 ENSG00000186453 OTTHUMG00000151903 uc002rfc.3 NM_001040710 CCDS42659 Q86W67 MGI:1922105 RGD:1359275 HGNC:34418 "ENST00000295150.8|NM_001040710.3" +HGNC:24736 FAM228B family with sequence similarity 228 member B protein-coding gene gene with protein product Approved 2p23.3 02p23.3 family with sequence similarity 228, member B 2012-07-04 2015-11-18 2016-09-30 375190 ENSG00000219626 OTTHUMG00000151901 uc032ngu.2 NM_001145710 "CCDS74491|CCDS77387" P0C875 MGI:2442121 RGD:2324744 HGNC:24736 "ENST00000615575.5|NM_001145710.2" +HGNC:44652 FAM229A family with sequence similarity 229 member A protein-coding gene gene with protein product Approved 1p35.1 01p35.1 family with sequence similarity 229, member A 2012-12-12 2015-11-18 2016-09-30 100128071 ENSG00000225828 OTTHUMG00000007587 uc021oku.1 NM_001167676 CCDS57985 H3BQW9 MGI:1915483 RGD:1564163 HGNC:44652 "ENST00000432622.2|NM_001167676.2" +HGNC:33858 FAM229B family with sequence similarity 229 member B protein-coding gene gene with protein product Approved 6q21 06q21 "DKFZp586F0922|LOC619208" C6orf225 "chromosome 6 open reading frame 225|family with sequence similarity 229, member B" 2008-07-17 2012-12-12 2015-11-18 2016-09-30 619208 ENSG00000203778 OTTHUMG00000015383 uc003pvs.4 NM_001033564 CCDS34513 Q4G0N7 MGI:1913587 RGD:2300149 HGNC:33858 "ENST00000368656.7|NM_001033564.3" +HGNC:45045 FAM230A family with sequence similarity 230 member A non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 DGCR15 family with sequence similarity 230, member A "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2013-01-21 2015-11-18 2018-08-03 653203 ENSG00000277870 OTTHUMG00000189114 uc062bir.1 JX456222 NR_136560 29668722 HGNC:45045 +HGNC:32943 FAM230B family with sequence similarity 230 member B non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 FLJ46366 "family with sequence similarity 230, member B|family with sequence similarity 230, member B (non-protein coding)|family with sequence similarity 230 member B (non-protein coding)" "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2013-01-21 2018-05-17 2020-04-20 642633 ENSG00000215498 OTTHUMG00000150782 uc062bxy.1 "BC039313|AK128837" NR_108107 FAM230B HGNC:32943 +HGNC:24482 FAM230C family with sequence similarity 230 member C non-coding RNA RNA, long non-coding Approved 13q11 13q11 DKFZP434B061 "NCRNA00281|LINC00281" "non-protein coding RNA 281|long intergenic non-protein coding RNA 281|family with sequence similarity 230, member C" "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2010-08-05 2013-01-25 2015-11-18 2018-08-02 26080 ENSG00000279516 OTTHUMG00000189381 uc001vuw.3 "AK097777|BC040613" NR_027278 HGNC:24482 +HGNC:53910 FAM230D family with sequence similarity 230 member D non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 AC008079.1 LINC02592 long intergenic non-protein coding RNA 2592 "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2018-05-24 2018-08-08 2018-08-08 2018-08-08 100996415 ENSG00000187979 OTTHUMG00000150103 NR_136570 29668722 HGNC:53910 +HGNC:52450 FAM230E family with sequence similarity 230 member E non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 LINC01662 long intergenic non-protein coding RNA 1662 "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2016-11-07 2018-08-08 2018-08-08 2018-08-08 642643 ENSG00000182824 OTTHUMG00000187471 NR_136561 29668722 HGNC:52450 +HGNC:52451 FAM230F family with sequence similarity 230 member F non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 LINC01663 long intergenic non-protein coding RNA 1663 "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2016-11-07 2018-08-08 2018-08-08 2018-08-08 100996432 ENSG00000276095 OTTHUMG00000188102 NR_136571 29668722 HGNC:52451 +HGNC:52423 FAM230G family with sequence similarity 230 member G non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 AC007731.1 "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2018-08-08 2018-08-08 2018-08-08 101927859 ENSG00000188280 OTTHUMG00000150686 NR_136572 29668722 HGNC:52423 +HGNC:53977 FAM230H family with sequence similarity 230 member H non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 AP000552.1 "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2018-08-08 2018-08-08 100996335 ENSG00000206142 OTTHUMG00000150795 NR_136559 29668722 HGNC:53977 +HGNC:52446 FAM230I family with sequence similarity 230 member I non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 LINC01658 long intergenic non-protein coding RNA 1658 "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2016-11-07 2018-08-08 2018-08-08 2018-08-08 388882 ENSG00000178248 OTTHUMG00000150669 NR_110539 29668722 HGNC:52446 +HGNC:52448 FAM230J family with sequence similarity 230 member J non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 LINC01660 long intergenic non-protein coding RNA 1660 "Family with sequence similarity 230|Long non-coding RNAs with FAM root symbol" "1657|1993" 2016-11-07 2018-08-08 2018-08-08 2018-08-08 729461 ENSG00000274044 OTTHUMG00000188347 NR_136569 29668722 HGNC:52448 +HGNC:14163 FAM234A family with sequence similarity 234 member A protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "DKFZP761D0211|FLJ32603" "C16orf9|ITFG3" "chromosome 16 open reading frame 9|integrin alpha FG-GAP repeat containing 3|family with sequence similarity 234, member A" 2000-12-21 2015-08-13 2015-11-18 2016-09-30 83986 ENSG00000167930 OTTHUMG00000060728 AL136542 NM_032039 CCDS10402 Q9H0X4 MGI:2146854 RGD:1311484 HGNC:14163 "ENST00000399932.8|NM_032039.4" +HGNC:29288 FAM234B family with sequence similarity 234 member B protein-coding gene gene with protein product Approved 12p13.1 12p13.1 KIAA1467 "KIAA1467|family with sequence similarity 234, member B" 2006-01-23 2015-08-13 2015-11-18 2016-09-30 57613 ENSG00000084444 OTTHUMG00000168774 AB040900 NM_020853 CCDS31750 A2RU67 10819331 MGI:1921775 RGD:1306151 617838 HGNC:29288 "ENST00000197268.13|NM_020853.2" +HGNC:44268 FAM236A family with sequence similarity 235 member A protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "DMRTC1-AS1|LINC00684" "DMRTC1 antisense RNA 1 (non-protein coding)|DMRTC1 antisense RNA 1|long intergenic non-protein coding RNA 684" 2012-08-02 2016-11-18 2016-11-18 2017-01-06 100129407 ENSG00000275520 OTTHUMG00000188527 uc064zyc.1 NM_001348071 "CCDS87766|CCDS87765" A0A1B0GUQ0 "MGI:1922693|MGI:3645559" HGNC:44268 "ENST00000611003.2|NM_001348070.2" +HGNC:52640 FAM236B family with sequence similarity 236 member B protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2017-01-05 2017-01-23 2017-01-23 100132304 ENSG00000268994 OTTHUMG00000188221 NM_001348072 CCDS87760 A0A1B0GV22 "MGI:1922693|MGI:3645559" HGNC:52640 "ENST00000596535.3|NM_001348072.1" +HGNC:52641 FAM236C family with sequence similarity 236 member C protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2017-01-06 2017-01-23 2017-01-23 109729126 ENSG00000283594 OTTHUMG00000191677 NM_001351111 "CCDS87763|CCDS87764" P0DP71 HGNC:52641 "ENST00000636267.1|NM_001351111.1" +HGNC:52642 FAM236D family with sequence similarity 236 member D protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2017-01-06 2017-01-23 2017-01-23 105373251 ENSG00000225396 OTTHUMG00000021819 NM_001348202 "CCDS87762|CCDS87761" A0A1B0GTK5 "MGI:1922693|MGI:3645559" HGNC:52642 "ENST00000419795.6|NM_001348203.1" +HGNC:52388 FAM237A family with sequence similarity 237 member A protein-coding gene gene with protein product Approved 2q33.3 02q33.3 2017-03-21 2017-03-21 200726 ENSG00000235118 OTTHUMG00000154723 NM_001102659 CCDS82560 A0A1B0GTK4 RGD:9235481 HGNC:52388 "ENST00000441223.4|NM_001102659.3" +HGNC:53217 FAM237B family with sequence similarity 237 member B protein-coding gene gene with protein product Approved 7q21.13 07q21.13 2017-03-21 2019-03-06 107986818 ENSG00000283267 OTTHUMG00000191757 NM_001384237 A0A1B0GVD1 MGI:3646213 HGNC:53217 "ENST00000692316.1|NM_001384237.2" +HGNC:17776 FAM238A family with sequence similarity 238 member A non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 bA128B16.2 "C10orf50|NCRNA00264|LINC00264" "chromosome 10 open reading frame 50|non-protein coding RNA 264|long intergenic non-protein coding RNA 264|family with sequence similarity 238 member A (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2004-05-27 2017-02-17 2018-05-17 2018-05-17 645528 ENSG00000233261 OTTHUMG00000017839 uc001ist.4 NR_026793 HGNC:17776 +HGNC:44917 FAM238B family with sequence similarity 238 member B non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 LINC00202-2 "long intergenic non-protein coding RNA 202-2|family with sequence similarity 238 member B (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2012-12-18 2017-02-17 2018-05-17 2018-05-17 731789 ENSG00000231976 OTTHUMG00000017842 uc057sir.1 NR_026794 HGNC:44917 +HGNC:24672 FAM238C family with sequence similarity 238 member C non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 bB27G4.1 "C10orf51|NCRNA00202|LINC00202|LINC00202-1" "chromosome 10 open reading frame 51|non-protein coding RNA 202|long intergenic non-protein coding RNA 202|long intergenic non-protein coding RNA 202-1|family with sequence similarity 238 member C (non-protein coding)" Long non-coding RNAs with FAM root symbol 1993 2004-05-27 2017-02-17 2018-05-17 2020-01-06 387644 ENSG00000283709 OTTHUMG00000017849 uc001itf.2 AK097405 NR_026795 HGNC:24672 +HGNC:53414 FAM239A family with sequence similarity 239 member A non-coding RNA RNA, long non-coding Approved Xp22.33 Xp22.33 family with sequence similarity 239 member A (non-protein coding) Long non-coding RNAs with FAM root symbol 1993 2017-03-29 2018-05-17 2020-01-21 101930105 ENSG00000234449 OTTHUMG00000067411 NR_146580 HGNC:53414 +HGNC:53415 FAM239B family with sequence similarity 239 member B non-coding RNA RNA, long non-coding Approved Xp22.33 Xp22.33 family with sequence similarity 239 member B (non-protein coding) Long non-coding RNAs with FAM root symbol 1993 2017-03-29 2018-05-17 2020-01-21 729162 ENSG00000205663 OTTHUMG00000067421 NR_146578 HGNC:53415 +HGNC:53416 FAM239C family with sequence similarity 239 member C non-coding RNA RNA, long non-coding Approved Xp22.33 Xp22.33 family with sequence similarity 239 member C (non-protein coding) Long non-coding RNAs with FAM root symbol 1993 2017-03-29 2018-05-17 2020-01-21 107987330 ENSG00000205662 OTTHUMG00000067420 XR_001755780 HGNC:53416 +HGNC:52390 FAM240A family with sequence similarity 240 member A protein-coding gene gene with protein product Approved 3p21.31 03p21.31 2017-03-31 2017-08-10 100132146 ENSG00000283473 OTTHUMG00000133482 NM_001195442 CCDS82764 A0A1B0GVK7 MGI:2685436 RGD:7555836 HGNC:52390 "ENST00000640551.3|NM_001195442.2" +HGNC:53430 FAM240B family with sequence similarity 240 member B protein-coding gene gene with protein product Approved 9p13.1 09p13.1 2017-03-31 2017-08-10 110806297 ENSG00000283329 OTTHUMG00000191736 NM_001386811 A0A1B0GVZ2 MGI:1916130 "ENST00000637493.2|NM_001394922.1" +HGNC:54200 FAM240C family with sequence similarity 240 member C protein-coding gene gene with protein product Approved 2q37.3 02q37.3 2019-03-20 2019-03-20 285095 ENSG00000216921 NM_001382368 A0A1B0GVR7 "ENST00000404031.6|NM_001382368.1" +HGNC:26813 FAM241A family with sequence similarity 241 member A protein-coding gene gene with protein product Approved 4q25 04q25 FLJ39370 C4orf32 chromosome 4 open reading frame 32 2006-08-15 2017-07-07 2017-07-07 2017-07-07 132720 ENSG00000174749 OTTHUMG00000132851 uc003iah.3 AK096689 NM_152400 CCDS3695 Q8N8J7 12477932 MGI:1917867 RGD:1593351 HGNC:26813 "ENST00000309733.6|NM_152400.3" +HGNC:23519 FAM241B family with sequence similarity 241 member B protein-coding gene gene with protein product Approved 10q22.1 10q22.1 C10orf35 chromosome 10 open reading frame 35 2003-11-21 2017-07-07 2017-07-07 2022-01-10 219738 ENSG00000171224 OTTHUMG00000018383 uc001jpq.5 BC013587 NM_145306 CCDS7295 Q96D05 31270356 MGI:1917144 RGD:1305587 HGNC:23519 "ENST00000373279.6|NM_145306.3" +HGNC:51597 FAM242A family with sequence similarity 242 member A non-coding RNA RNA, long non-coding Approved 20q11.1 20q11.1 TCONS_00028363 LINC01598 long intergenic non-protein coding RNA 1598 Long non-coding RNAs with FAM root symbol 1993 2015-03-12 2018-05-02 2018-05-02 2018-05-02 105372587 ENSG00000231934 OTTHUMG00000032154 "BX100171|AA470003|AW342060" XR_942229 LINC01598 HGNC:51597 +HGNC:53872 FAM242B family with sequence similarity 242 member B non-coding RNA RNA, long non-coding Approved 20q11.1 20q11.1 Long non-coding RNAs with FAM root symbol 1993 2018-05-02 2020-01-06 105379478 ENSG00000287889 NR_133643 HGNC:53872 +HGNC:53873 FAM242C family with sequence similarity 242 member C non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Long non-coding RNAs with FAM root symbol 1993 2018-05-02 2018-05-02 112488744 ENSG00000250432 OTTHUMG00000160026 NR_170197 +HGNC:53874 FAM242D family with sequence similarity 242 member D non-coding RNA RNA, long non-coding Approved 9q13 09q13 Long non-coding RNAs with FAM root symbol 1993 2018-05-02 2018-05-02 112488742 ENSG00000231248 OTTHUMG00000067216 NR_170271 +HGNC:53875 FAM242E family with sequence similarity 242 member E non-coding RNA RNA, long non-coding Approved 9q13 09q13 Long non-coding RNAs with FAM root symbol 1993 2018-05-02 2018-05-14 105379438 ENSG00000229697 OTTHUMG00000013242 XR_950645 HGNC:53875 +HGNC:53876 FAM242F family with sequence similarity 242 member F non-coding RNA RNA, long non-coding Approved 9p11.2 09p11.2 Long non-coding RNAs with FAM root symbol 1993 2018-05-02 2019-04-02 105376064 ENSG00000275239 OTTHUMG00000189107 NR_135136 HGNC:53876 +HGNC:45163 FAM245A family with sequence similarity 245 member A non-coding RNA RNA, long non-coding Approved 10q23.2 10q23.2 LINC00864 long intergenic non-protein coding RNA 864 Long non-coding RNAs with FAM root symbol 1993 2013-02-28 2018-12-06 2018-12-06 2018-12-06 728218 ENSG00000228055 OTTHUMG00000018674 uc001ket.2 NR_046091 LINC00864 HGNC:45163 +HGNC:54133 FAM245B family with sequence similarity 245 member B non-coding RNA RNA, long non-coding Approved 10q11.22 10q11.22 Long non-coding RNAs with FAM root symbol 1993 2018-12-06 2018-12-06 102724643 ENSG00000285662 XR_945929 HGNC:54133 +HGNC:54844 FAM246A family with sequence similarity 246 member A protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2020-03-26 2020-03-26 117134598 ENSG00000286102 NM_001396025 A0A494C0Y3 MGI:3045365 +HGNC:54843 FAM246B family with sequence similarity 246 member B protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2020-03-26 2020-03-26 117134597 ENSG00000286175 NM_001396026 A0A494C0N9 MGI:3045365 +HGNC:54842 FAM246C family with sequence similarity 246 member C (gene/pseudogene) protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2020-03-26 2020-03-26 117134596 ENSG00000286025 NM_001396027 P0DSO1 MGI:3045365 +HGNC:54926 FAM247A family with sequence similarity 247 member A non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long non-coding RNAs with FAM root symbol 1993 2020-04-30 2020-11-09 105372935 ENSG00000283972 XR_938017 "32214344|32899105" +HGNC:54927 FAM247B family with sequence similarity 247 member B non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long non-coding RNAs with FAM root symbol 1993 2020-04-30 2020-04-30 117751732 ENSG00000278044 32214344 +HGNC:54928 FAM247C family with sequence similarity 247 member C non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long non-coding RNAs with FAM root symbol 1993 2020-04-30 2020-04-30 105377182 XR_937989 32214344 +HGNC:54929 FAM247D family with sequence similarity 247 member D non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long non-coding RNAs with FAM root symbol 1993 2020-04-30 2020-04-30 105372942 XR_951230 32214344 +HGNC:29170 FAN1 FANCD2 and FANCI associated nuclease 1 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "KIAA1018|MTMR15" "KIAA1018|myotubularin related protein 15|FANCD2/FANCI-associated nuclease 1" 2005-10-28 2010-08-04 2016-12-21 2021-05-26 22909 ENSG00000198690 OTTHUMG00000175661 uc001zff.4 NM_014967 "CCDS58344|CCDS32186" Q9Y2M0 "20603015|20603016|20603073" MGI:3045266 RGD:1566323 613534 308114 HGNC:29170 "ENST00000362065.9|NM_014967.5" HGNC:29170 +HGNC:3582 FANCA FA complementation group A protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "FAA|FA-H|FAH" "FACA|FANCH" Fanconi anemia complementation group A "FA complementation groups|FA core complex" "548|1751" 1995-12-22 2018-05-09 2021-05-26 2175 ENSG00000187741 OTTHUMG00000173049 uc002fou.2 Z83067 NM_000135 "CCDS42221|CCDS67099|CCDS32515|CCDS86554" O15360 "7581462|9382107" MGI:1341823 RGD:1311380 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCA|LRG_495|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_495.xml" FANCA 607139 121693 HGNC:3582 "ENST00000389301.8|NM_000135.4" HGNC:3582 +HGNC:3583 FANCB FA complementation group B protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "FAB|FLJ34064|FAAP95" Fanconi anemia complementation group B "FA complementation groups|FA core complex" "548|1751" 1998-08-26 2018-05-09 2021-05-26 2187 ENSG00000181544 OTTHUMG00000021168 uc004cwh.2 AK091383 NM_152633 CCDS14161 Q8NB91 "9382107|15502827" MGI:2448558 RGD:1561555 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCB|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCB|LRG_496|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_496.xml" 300515 121700 HGNC:3583 "ENST00000650831.1|NM_001018113.3" HGNC:3583 +HGNC:3584 FANCC FA complementation group C protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "FAC|FA3" FACC Fanconi anemia complementation group C "FA complementation groups|FA core complex" "548|1751" 1992-11-25 2018-05-09 2021-05-26 2176 ENSG00000158169 OTTHUMG00000020279 uc004avh.4 BC006303 NM_000136 "CCDS75861|CCDS35071" Q00597 1303234 MGI:95480 RGD:2593 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCC|LRG_497|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_497.xml" FANCC 613899 121705 HGNC:3584 "ENST00000289081.8|NM_000136.3" HGNC:3584 +HGNC:3585 FANCD2 FA complementation group D2 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "FAD|FA-D2" "FACD|FANCD" Fanconi anemia complementation group D2 "FA complementation groups|Armadillo like helical domain containing" "548|1492" 1996-01-04 2001-10-05 2018-05-09 2021-05-26 2177 ENSG00000144554 OTTHUMG00000128670 uc003buw.4 AF340183 NM_001018115 "CCDS2595|CCDS33696" Q9BXW9 "7581463|11239453|18475298" MGI:2448480 RGD:1303172 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCD2|LRG_306|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_306.xml" FANCD2 613984 121709 HGNC:3585 "ENST00000675286.1|NM_001018115.3" HGNC:3585 +HGNC:28623 FANCD2OS FANCD2 opposite strand protein-coding gene gene with protein product Approved 3p25.3 03p25.3 MGC40179 C3orf24 chromosome 3 open reading frame 24 2005-11-03 2012-11-12 2012-11-12 2014-11-19 115795 ENSG00000163705 OTTHUMG00000128669 uc003buz.3 AF230334 NM_173472 CCDS2596 Q96PS1 12477932 MGI:1918229 RGD:1565997 HGNC:28623 "ENST00000450660.3|NM_001164839.2" +HGNC:44487 FANCD2P1 FANCD2 pseudogene 1 pseudogene pseudogene Approved 3p25.3 03p25.3 Fanconi anemia complementation group D2 pseudogene 1 2012-11-12 2018-05-09 2018-05-09 100421239 NG_025673 PGOHUM00000299338 HGNC:44487 +HGNC:44488 FANCD2P2 FANCD2 pseudogene 2 pseudogene pseudogene Approved 3p25.2 03p25.2 Fanconi anemia complementation group D2 pseudogene 2 2012-11-12 2018-05-09 2018-05-09 101929530 ENSG00000230342 OTTHUMG00000155298 NG_055546 PGOHUM00000299341 HGNC:44488 +HGNC:3586 FANCE FA complementation group E protein-coding gene gene with protein product Approved 6p21.31 06p21.31 FAE FACE Fanconi anemia complementation group E "FA complementation groups|FA core complex" "548|1751" 1996-04-09 2018-05-09 2021-05-26 2178 ENSG00000112039 OTTHUMG00000014565 uc003oko.2 AF265210 NM_021922 CCDS4805 Q9HB96 "7662964|11001585" MGI:1920025 RGD:1561045 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCE|LRG_498|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_498.xml" FANCE 613976 121715 HGNC:3586 "ENST00000229769.3|NM_021922.3" HGNC:3586 +HGNC:3587 FANCF FA complementation group F protein-coding gene gene with protein product Approved 11p14.3 11p14.3 FAF Fanconi anemia complementation group F "FA complementation groups|FA core complex" "548|1751" 1998-08-26 2018-05-09 2021-05-26 2188 ENSG00000183161 OTTHUMG00000166070 uc001mql.2 NM_022725 CCDS7857 Q9NPI8 9382107 MGI:3689889 RGD:1561456 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCF|LRG_527|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_527.xml" FANCF 613897 121719 HGNC:3587 "ENST00000327470.6|NM_022725.4" HGNC:3587 +HGNC:3588 FANCG FA complementation group G protein-coding gene gene with protein product Approved 9p13.3 09p13.3 FAG "DNA repair protein XRCC9|X-ray repair, complementing defective, in Chinese hamster, 9|X-ray repair complementing defective repair in Chinese hamster cells 9" XRCC9 Fanconi anemia complementation group G "FA complementation groups|FA core complex" "548|1751" 1998-08-26 2018-05-09 2021-05-26 2189 ENSG00000221829 OTTHUMG00000019850 uc003zwb.1 AJ007669 NM_004629 CCDS6574 O15287 "9256465|9382107" MGI:1926471 RGD:1587477 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCG|LRG_499|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_499.xml" FANCG 602956 121722 HGNC:3588 "ENST00000378643.8|NM_004629.2" HGNC:3588 +HGNC:25568 FANCI FA complementation group I protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FLJ10719 KIAA1794 "KIAA1794|Fanconi anemia complementation group I" FA complementation groups 548 2005-10-25 2007-05-03 2018-05-09 2021-05-26 55215 ENSG00000140525 OTTHUMG00000132993 uc010bnp.2 BC004277 NM_018193 "CCDS10349|CCDS45346" Q9NVI1 "14630800|17460694|17412408" MGI:2384790 RGD:2321863 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCI|LRG_500|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_500.xml" 611360 138447 HGNC:25568 "ENST00000310775.12|NM_001113378.2" HGNC:25568 +HGNC:20748 FANCL FA complementation group L protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "FLJ10335|FAAP43|Pog" PHF9 "PHD finger protein 9|Fanconi anemia complementation group L" "PHD finger proteins|FA complementation groups|FA core complex" "88|548|1751" 2003-05-22 2003-10-15 2018-05-09 2021-05-26 55120 ENSG00000115392 OTTHUMG00000129349 uc002rzw.5 AK001197 NM_018062 "CCDS46294|CCDS1860" Q9NW38 MGI:1914280 RGD:1311427 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCL|LRG_501|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_501.xml" 608111 121726 HGNC:20748 "ENST00000233741.9|NM_018062.4" HGNC:20748 +HGNC:23168 FANCM FA complementation group M protein-coding gene gene with protein product Approved 14q21.2 14q21.2 FAAP250 KIAA1596 "KIAA1596|Fanconi anemia complementation group M" "FA complementation groups|RNA helicases|FA core complex" "548|1168|1751" 2003-11-21 2005-09-01 2018-05-09 2021-05-26 57697 ENSG00000187790 OTTHUMG00000170807 uc001wwd.5 AK001672 NM_020937 "CCDS32070|CCDS81802|CCDS76677" Q8IYD8 "10997877|16116422" MGI:2442306 RGD:1307897 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCM|LRG_502|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_502.xml" 609644 121730 HGNC:23168 "ENST00000267430.10|NM_020937.4" HGNC:23168 +HGNC:23527 FANK1 fibronectin type III and ankyrin repeat domains 1 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 fibronectin type 3 and ankyrin repeat domains 1 "Ankyrin repeat domain containing|Fibronectin type III domain containing" "403|555" 2003-11-21 2005-03-01 2018-06-04 92565 ENSG00000203780 OTTHUMG00000019241 uc001ljh.5 BC024189 NM_145235 "CCDS86155|CCDS31309" Q8TC84 17604233 MGI:1914180 RGD:1304756 611640 HGNC:23527 "ENST00000368693.6|NM_145235.5" +HGNC:43915 FANK1-AS1 FANK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.2 10q26.2 FANK1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-03 2012-08-15 2012-10-12 101410540 ENSG00000233409 OTTHUMG00000019239 uc057wsz.1 AW080472 NR_102707 FANK1-AS1 HGNC:43915 +HGNC:3590 FAP fibroblast activation protein alpha protein-coding gene gene with protein product Approved 2q24.2 02q24.2 DPPIV seprase fibroblast activation protein, alpha DASH family 1205 1995-03-28 2015-11-05 2016-10-05 2191 ENSG00000078098 OTTHUMG00000153890 uc002ucd.3 U09278 NM_001291807 "CCDS33311|CCDS77480" Q12884 "9247085|14707457" MGI:109608 RGD:621253 600403 S09.007 objectId:2365 HGNC:3590 "ENST00000188790.9|NM_004460.5" +HGNC:26222 FAR1 fatty acyl-CoA reductase 1 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "FLJ22728|SDR10E1" short chain dehydrogenase/reductase family 10E, member 1 MLSTD2 male sterility domain containing 2 Short chain dehydrogenase/reductase superfamily 743 2004-03-01 2008-06-06 2015-11-11 2016-10-05 84188 ENSG00000197601 OTTHUMG00000165743 uc001mld.4 AK026381 NM_032228 CCDS7813 Q8WVX9 "15220348|15220349|19027726" MGI:1914670 RGD:1306647 616107 446846 1.2.1.- HGNC:26222 "ENST00000354817.8|NM_032228.6" HGNC:26222 +HGNC:41485 FAR1-IT1 FAR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 11p15.3 11p15.3 FAR1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2016-10-05 106478978 ENSG00000254791 OTTHUMG00000165788 uc057zhc.1 FAR1-IT1 +HGNC:39675 FAR1P1 fatty acyl-CoA reductase 1 pseudogene 1 pseudogene pseudogene Approved 13q31.3 13q31.3 2011-03-22 2015-11-11 2015-11-11 100128011 ENSG00000235879 OTTHUMG00000017182 NG_021972 PGOHUM00000248661 HGNC:39675 +HGNC:25531 FAR2 fatty acyl-CoA reductase 2 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "FLJ10462|SDR10E2" short chain dehydrogenase/reductase family 10E, member 2 MLSTD1 male sterility domain containing 1 Short chain dehydrogenase/reductase superfamily 743 2004-03-01 2008-06-06 2015-11-11 2016-10-05 55711 ENSG00000064763 OTTHUMG00000169320 uc001ris.6 AL136843 NM_018099 "CCDS8717|CCDS61084" Q96K12 "15220348|15220349|19027726" MGI:2687035 RGD:1565966 616156 1.2.1.- HGNC:25531 "ENST00000536681.8|NM_001271783.2" +HGNC:49284 FAR2P1 fatty acyl-CoA reductase 2 pseudogene 1 pseudogene pseudogene Approved 2q21.1 02q21.1 LOC440905 2013-10-15 2015-11-11 2015-11-11 440905 ENSG00000180178 OTTHUMG00000153562 NR_026758 25085781 PGOHUM00000240292 HGNC:49284 +HGNC:49279 FAR2P2 fatty acyl-CoA reductase 2 pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2015-11-11 2015-11-11 100216479 ENSG00000178162 OTTHUMG00000153927 NR_046258 PGOHUM00000240300 HGNC:49279 +HGNC:49285 FAR2P3 fatty acyl-CoA reductase 2 pseudogene 3 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2015-11-11 2015-11-11 100288897 ENSG00000240253 OTTHUMG00000154049 NG_052639 PGOHUM00000240935 HGNC:49285 +HGNC:49286 FAR2P4 fatty acyl-CoA reductase 2 pseudogene 4 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2015-11-11 2017-09-28 100420005 ENSG00000231431 OTTHUMG00000153559 NG_023727 PGOHUM00000240939 HGNC:49286 +HGNC:3591 FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 protein-coding gene gene with protein product Approved 13q32.2 13q32.2 "CDEP|PLEKHC2|MGC87400|PPP1R75|GLCC1" "protein phosphatase 1, regulatory subunit 75|glycolysis-associated lncRNA of colorectal cancer" FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) "Pleckstrin homology domain containing|Protein phosphatase 1 regulatory subunits|Dbl family Rho GEFs|FERM domain containing|MicroRNA protein coding host genes" "682|694|722|1293|1691" 2000-04-12 2015-11-09 2022-03-23 10160 ENSG00000152767 OTTHUMG00000017248 uc001vnj.5 AB008430 NM_005766 "CCDS66572|CCDS9487|CCDS32000" Q9Y4F1 9425278 MGI:2446173 RGD:1305346 602654 HGNC:3591 "ENST00000319562.11|NM_005766.4" +HGNC:40229 FARP1-AS1 FARP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.2 13q32.2 FARP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874080 ENSG00000231194 OTTHUMG00000017247 uc058xxv.1 FARP1-AS1 +HGNC:16460 FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "KIAA0793|FIR|PLEKHC3|FRG" FERM, RhoGEF and pleckstrin domain protein 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs|FERM domain containing|MicroRNA protein coding host genes" "682|722|1293|1691" 2002-11-29 2015-11-09 2015-11-09 9855 ENSG00000006607 OTTHUMG00000151574 uc002wbi.4 AB018336 NM_001282983 "CCDS63198|CCDS63197|CCDS33424" O94887 "9872452|12351724" MGI:2385126 RGD:1308003 617586 HGNC:16460 "ENST00000264042.8|NM_014808.4" +HGNC:21062 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "dJ236A3.1|mtPheRS" phenylalanine tRNA ligase 2, mitochondrial FARS1 phenylalanine-tRNA synthetase 1 (mitochondrial) Aminoacyl tRNA synthetases, Class II 132 2003-05-13 2004-12-03 2007-02-23 2021-05-26 10667 ENSG00000145982 OTTHUMG00000014178 uc010jnv.2 AF097441 NM_006567 CCDS4494 O95363 10329163 MGI:1917205 RGD:1309416 611592 315385 6.1.1.20 HGNC:21062 "ENST00000274680.9|NM_006567.5" HGNC:21062 +HGNC:56121 FARS2-AS1 FARS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.1 06p25.1 Antisense RNAs 1987 2022-01-07 2022-01-07 101927972 ENSG00000269985 NR_125846 +HGNC:3592 FARSA phenylalanyl-tRNA synthetase subunit alpha protein-coding gene gene with protein product Approved 19p13.13 19p13.13 CML33 phenylalanine tRNA ligase 1, alpha, cytoplasmic "FARSL|FARSLA" "phenylalanine-tRNA synthetase-like|phenylalanyl-tRNA synthetase-like, alpha subunit" Aminoacyl tRNA synthetases, Class II 132 1997-07-07 2007-02-23 2018-04-23 2018-04-23 2193 ENSG00000179115 OTTHUMG00000180569 uc002mvs.3 U07424 NM_004461 CCDS12287 Q9Y285 9177188 MGI:1913840 RGD:1310314 602918 6.1.1.20 HGNC:3592 "ENST00000314606.9|NM_004461.3" HGNC:3592 +HGNC:50479 FARSA-AS1 FARSA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.13 19p13.13 Antisense RNAs 1987 2014-05-06 2016-10-05 106144598 ENSG00000266975 OTTHUMG00000180573 AW881480 NR_149078 FARSA-AS1 HGNC:50479 +HGNC:17800 FARSB phenylalanyl-tRNA synthetase subunit beta protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "PheHB|FRSB" phenylalanine tRNA ligase 1, beta, cytoplasmic FARSLB phenylalanyl-tRNA synthetase-like, beta subunit Aminoacyl tRNA synthetases, Class II 132 2004-01-05 2007-02-23 2018-04-23 2018-04-23 10056 ENSG00000116120 OTTHUMG00000133155 uc002vne.2 AF042346 NM_005687 CCDS2454 Q9NSD9 10049785 MGI:1346035 RGD:1303210 609690 6.1.1.20 HGNC:17800 "ENST00000281828.8|NM_005687.5" HGNC:17800 +HGNC:45115 FARSBP1 FARSB pseudogene 1 pseudogene pseudogene Approved 10q23.1 10q23.1 phenylalanyl-tRNA synthetase beta subunit pseudogene 1 2013-02-15 2018-04-23 2018-04-23 647532 ENSG00000231060 OTTHUMG00000018621 NG_005861 PGOHUM00000289931 HGNC:45115 +HGNC:11920 FAS Fas cell surface death receptor protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "CD95|APO-1" TNF receptor superfamily member 6 "FAS1|APT1|TNFRSF6" "tumor necrosis factor receptor superfamily, member 6|Fas (TNF receptor superfamily, member 6)" "CD molecules|Tumor necrosis factor receptor superfamily|Death inducing signaling complex " "471|782|1342" 1992-06-25 2005-01-07 2013-05-22 2021-04-13 355 ENSG00000026103 OTTHUMG00000018701 uc001kfr.4 M67454 NM_000043 "CCDS7395|CCDS7394|CCDS7393" P25445 "1385299|1385309" MGI:95484 RGD:619831 "Autoimmune Lymphoproliferative Syndrome Database (ALPSbase): Database of mutations causing human ALPS|http://research.nhgri.nih.gov/ALPS/|LOVD at NCBI|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=FAS|LRG_134|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_134.xml" FAS 134637 121733 objectId:1875 CD95 HGNC:11920 "ENST00000652046.1|NM_000043.6" HGNC:11920 +HGNC:37128 FAS-AS1 FAS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 SAF "FASAS|FAS-AS" "FAS antisense RNA (non-protein coding)|FAS antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-07-16 2010-11-25 2012-08-15 2018-05-02 100302740 uc058vuu.1 NR_028371 "15829500|24811343|27141526" saf HGNC:37128 +HGNC:11936 FASLG Fas ligand protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "FasL|CD178" "APT1LG1|TNFSF6" "tumor necrosis factor (ligand) superfamily, member 6|Fas ligand (TNF superfamily, member 6)" "CD molecules|Tumor necrosis factor superfamily|Death inducing signaling complex " "471|781|1342" 1994-12-09 2005-01-07 2015-11-17 2021-04-13 356 ENSG00000117560 OTTHUMG00000034841 uc001gis.4 U11821 NM_000639 "CCDS1304|CCDS76243" P48023 "7826947|9022072" MGI:99255 RGD:3880 "FASLGbase: Mutation registry for Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base)|http://structure.bmc.lu.se/idbase/FASLGbase/|LRG_58|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_58.xml" 134638 121740 ligandId:5078 CD178 HGNC:11936 "ENST00000367721.3|NM_000639.3" HGNC:11936 +HGNC:3594 FASN fatty acid synthase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FAS|SDR27X1" short chain dehydrogenase/reductase family 27X, member 1 "Short chain dehydrogenase/reductase superfamily|7BS orphan methyltransferases" "743|2066" 1994-05-17 2016-10-05 2194 ENSG00000169710 OTTHUMG00000178527 uc002kdu.5 U26644 NM_004104 CCDS11801 P49327 "7835891|7567999|19027726" MGI:95485 RGD:620665 600212 470316 objectId:2608 2.3.1.85 HGNC:3594 "ENST00000306749.4|NM_004104.5" +HGNC:24676 FASTK Fas activated serine/threonine kinase protein-coding gene gene with protein product Approved 7q36.1 07q36.1 FAST Fas-activated serine/threonine kinase FASTK mitochondrial RNA binding family 1538 2005-04-05 2016-02-03 2016-10-05 10922 ENSG00000164896 OTTHUMG00000158694 uc003wix.3 NM_006712 "CCDS59088|CCDS5918|CCDS5919" Q14296 "7544399|15572676" MGI:1913837 RGD:1311601 606965 HGNC:24676 "ENST00000297532.11|NM_006712.5" +HGNC:26150 FASTKD1 FAST kinase domains 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 FLJ21901 FASTK mitochondrial RNA binding family 1538 2006-07-07 2014-11-19 79675 ENSG00000138399 OTTHUMG00000154953 uc002uev.6 AL832058 NM_024622 "CCDS63051|CCDS33318" Q53R41 11347906 MGI:2444596 RGD:1563531 617529 HGNC:26150 "ENST00000453153.7|NM_024622.6" +HGNC:29160 FASTKD2 FAST kinase domains 2 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 KIAA0971 KIAA0971 "FASTK mitochondrial RNA binding family|MicroRNA protein coding host genes" "1538|1691" 2004-06-28 2006-07-07 2006-07-07 2014-11-19 22868 ENSG00000118246 OTTHUMG00000132917 uc002vbv.4 BC001544 NM_014929 CCDS2371 Q9NYY8 MGI:1922869 RGD:1307883 612322 168272 HGNC:29160 "ENST00000402774.8|NM_001136193.2" HGNC:29160 +HGNC:28758 FASTKD3 FAST kinase domains 3 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 "MGC5297|FLJ23274" FASTK mitochondrial RNA binding family 1538 2006-07-07 2019-02-20 79072 ENSG00000124279 OTTHUMG00000131029 uc003jeb.4 AK026927 NM_024091 CCDS3873 Q14CZ7 27789713 MGI:1916827 RGD:1309729 617530 HGNC:28758 "ENST00000264669.10|NM_024091.4" +HGNC:25790 FASTKD5 FAST kinase domains 5 protein-coding gene gene with protein product Approved 20p13 20p13 FLJ13149 FASTK mitochondrial RNA binding family 1538 2006-07-07 2015-08-25 60493 ENSG00000215251 OTTHUMG00000031727 uc002whz.5 BC007413 NM_021826 CCDS13048 Q7L8L6 11347906 MGI:2139469 RGD:1563839 614272 HGNC:25790 "ENST00000380266.4|NM_021826.5" +HGNC:3595 FAT1 FAT atypical cadherin 1 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 "CDHF7|CDHR8" cadherin-related family member 8 FAT "FAT tumor suppressor (Drosophila) homolog|FAT tumor suppressor homolog 1 (Drosophila)" Cadherin related 24 1995-08-11 2008-10-30 2013-05-31 2015-09-11 2195 ENSG00000083857 OTTHUMG00000160320 uc003izf.4 X87241 NM_005245 CCDS47177 Q14517 8586420 MGI:109168 RGD:621254 FAT1 600976 470318 HGNC:3595 "ENST00000441802.7|NM_005245.4" +HGNC:16582 FAT1P1 FAT atypical cadherin 1 pseudogene 1 pseudogene pseudogene Approved 20p12.2 20p12.2 dJ697P8.1 "FAT tumor suppressor (Drosophila) homolog pseudogene 1|FAT tumor suppressor homolog 1 (Drosophila) pseudogene 1" 2001-09-17 2014-06-24 2014-11-19 170513 ENSG00000217809 OTTHUMG00000031878 AL050403 NG_001036 PGOHUM00000247443 HGNC:16582 +HGNC:3596 FAT2 FAT atypical cadherin 2 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "MEGF1|CDHF8|HFAT2|CDHR9" cadherin-related family member 9 "FAT tumor suppressor (Drosophila) homolog 2|FAT tumor suppressor homolog 2 (Drosophila)" "Cadherin related|MicroRNA protein coding host genes" "24|1691" 1998-03-25 2013-05-31 2015-09-11 2196 ENSG00000086570 OTTHUMG00000130126 uc003lue.5 AF231022 NM_001447 CCDS4317 Q9NYQ8 9693030 MGI:2685369 RGD:620656 604269 HGNC:3596 "ENST00000261800.6|NM_001447.3" HGNC:3596 +HGNC:23112 FAT3 FAT atypical cadherin 3 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "KIAA1989|CDHF15|CDHR10" cadherin-related family member 10 FAT tumor suppressor homolog 3 (Drosophila) Cadherin related 24 2003-09-11 2013-05-31 2015-09-01 120114 ENSG00000165323 OTTHUMG00000154468 uc001pdj.5 AB076400 NM_001008781 Q8TDW7 11811999 MGI:2444314 RGD:620657 612483 HGNC:23112 "ENST00000525166.6|NM_001367949.2" +HGNC:23109 FAT4 FAT atypical cadherin 4 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "CDHF14|FAT-J|CDHR11" cadherin-related family member 11 FAT tumor suppressor homolog 4 (Drosophila) Cadherin related 24 2003-09-11 2013-05-31 2015-09-01 79633 ENSG00000196159 OTTHUMG00000133100 uc003ifj.5 AY356402 NM_024582 CCDS3732 Q6V0I7 15003449 MGI:3045256 RGD:1564291 FAT4 612411 371950 HGNC:23109 "ENST00000394329.9|NM_001291303.3" HGNC:23109 +HGNC:24683 FATE1 fetal and adult testis expressed 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "FATE|CT43" cancer/testis antigen 43 2004-09-01 2020-04-02 89885 ENSG00000147378 OTTHUMG00000024172 uc004fex.4 AF249872 NM_033085 CCDS14700 Q969F0 11694338 MGI:1925155 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FATE1 300450 HGNC:24683 "ENST00000370350.7|NM_033085.3" +HGNC:3597 FAU FAU ubiquitin like and ribosomal protein S30 fusion protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "RPS30|FLJ22986|Fub1|Fubi|MNSFbeta|asr1|S30" "ribosomal protein S30|Monoclonal nonspecific suppressor factor beta" "Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived)|Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed|FAU, ubiquitin like and ribosomal protein S30 fusion" S ribosomal proteins 728 1992-12-02 2019-01-25 2019-01-25 2197 ENSG00000149806 OTTHUMG00000165606 uc001ocx.4 AK026639 NM_001997 CCDS8095 P62861 8406491 MGI:102547 RGD:61938 134690 HGNC:3597 "ENST00000529639.6|NM_001997.5" +HGNC:17984 FAUP1 FAU pseudogene 1 pseudogene pseudogene Approved 18q22.3 18q22.3 FAU1P "FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 1|FAU, ubiquitin like and ribosomal protein S30 fusion pseudogene 1" 2009-03-01 2019-01-21 2019-01-21 140623 ENSG00000235297 OTTHUMG00000158397 U02523 NG_001306 "7642109|19123937" PGOHUM00000294691 HGNC:17984 +HGNC:36535 FAUP2 FAU pseudogene 2 pseudogene pseudogene Approved 3q26.33 03q26.33 "FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 2|FAU, ubiquitin like and ribosomal protein S30 fusion pseudogene 2" 2009-03-06 2019-01-21 2019-01-21 100271125 ENSG00000237806 OTTHUMG00000157271 NG_010095 19123937 PGOHUM00000237883 HGNC:36535 +HGNC:36970 FAUP3 FAU pseudogene 3 pseudogene pseudogene Approved 4q35.2 04q35.2 "FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 3|FAU, ubiquitin like and ribosomal protein S30 fusion pseudogene 3" 2009-03-06 2019-01-21 2019-01-21 100271126 NG_010102 19123937 HGNC:36970 +HGNC:20742 FAXC failed axon connections homolog, metaxin like GST domain containing protein-coding gene gene with protein product Approved 6q16.2 06q16.2 "MGC2817|dJ273F20" C6orf168 "chromosome 6 open reading frame 168|failed axon connections homolog (Drosophila)|failed axon connections homolog" 2003-06-16 2012-02-07 2019-01-14 2019-01-14 84553 ENSG00000146267 OTTHUMG00000015261 uc003ppj.5 BC011583 NM_032511 CCDS34500 Q5TGI0 8647396 MGI:1923382 RGD:1562449 HGNC:20742 "ENST00000389677.6|NM_032511.4" +HGNC:1334 FAXDC2 fatty acid hydroxylase domain containing 2 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 FLJ13758 C5orf4 chromosome 5 open reading frame 4 Fatty acid hydroxylase domain containing 552 1999-07-22 2013-03-04 2013-03-04 2020-09-17 10826 ENSG00000170271 OTTHUMG00000164141 uc003lvs.5 AF159165 NM_032385 CCDS43390 Q96IV6 10843801 RGD:1586284 HGNC:1334 "ENST00000326080.10|NM_032385.5" HGNC:1334 +HGNC:24674 FBF1 Fas binding factor 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ00103|FBF-1|KIAA1863|ALB" albatross Fas (TNFRSF6) binding factor 1 2004-02-19 2016-04-20 2016-04-20 85302 ENSG00000188878 OTTHUMG00000179919 uc060kfj.1 AK074045 NM_001080542 CCDS45779 Q8TES7 11347906 MGI:1922033 RGD:1310662 616807 HGNC:24674 "ENST00000636174.2|NM_001319193.2" +HGNC:13620 FBH1 F-box DNA helicase 1 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "FLJ14590|Fbx18" FBXO18 "F-box only protein 18|F-box protein, helicase, 18" "F-boxes other|DNA helicases" "560|1167" 2003-06-09 2018-02-07 2018-02-07 2018-02-07 84893 ENSG00000134452 OTTHUMG00000017609 uc001iis.5 AK095343 NM_032807 "CCDS7073|CCDS73064|CCDS7072" Q8NFZ0 "10531037|11956208" MGI:1354699 RGD:1306298 607222 HGNC:13620 "ENST00000362091.9|NM_178150.3" +HGNC:3599 FBL fibrillarin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "RNU3IP1|FLRN|FIB|Nop1" "U3 small nucleolar ribonucleoprotein|7BS 2'O-ribose DNA/RNA methyltransferases" "1485|2062" 1991-09-12 2017-05-26 2091 ENSG00000105202 OTTHUMG00000182581 uc002omn.4 AC005393 NM_001436 CCDS12545 P22087 "1846968|2026646" MGI:95486 RGD:1305542 134795 HGNC:3599 "ENST00000221801.8|NM_001436.4" +HGNC:24686 FBLIM1 filamin binding LIM protein 1 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "FBLP-1|CAL|migfilin" LIM domain containing 1218 2005-06-15 2016-10-05 54751 ENSG00000162458 OTTHUMG00000003079 uc001axd.2 NM_001024215 "CCDS44064|CCDS163|CCDS30609" Q8WUP2 "12679033|12496242" MGI:1921452 RGD:1359551 607747 HGNC:24686 "ENST00000375766.8|NM_017556.4" +HGNC:55107 FBLIM1P1 FBLIM1 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2020-06-25 2020-11-11 392536 ENSG00000213489 NG_022635 PGOHUM00000304837 +HGNC:55108 FBLIM1P2 FBLIM1 pseudogene 2 pseudogene pseudogene Approved 11p11.2 11p11.2 2020-06-25 2020-06-25 401679 ENSG00000254871 NG_021816 +HGNC:35458 FBLL1 fibrillarin like 1 protein-coding gene gene with protein product Approved 5q34 05q34 LOC345630 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2009-02-12 2017-05-26 2017-12-01 345630 ENSG00000188573 OTTHUMG00000157012 uc011dep.3 NM_001355274 CCDS87345 A6NHQ2 MGI:3034689 RGD:1562841 HGNC:35458 "ENST00000338333.5|NM_001355274.2" +HGNC:3600 FBLN1 fibulin 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 FBLN Fibulins 556 1994-02-08 2021-05-26 2192 ENSG00000077942 OTTHUMG00000151340 uc003bgj.2 NM_006486 "CCDS14069|CCDS14067|CCDS14068|CCDS43028" P23142 "2269669|1400330" MGI:95487 RGD:1308667 135820 139855 HGNC:3600 "ENST00000327858.11|NM_006486.3" HGNC:3600 +HGNC:3601 FBLN2 fibulin 2 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 Fibulins 556 1994-02-24 2016-10-05 2199 ENSG00000163520 OTTHUMG00000155437 uc011ava.3 X82494 NM_001004019 "CCDS46762|CCDS46761" P98095 7806230 MGI:95488 RGD:628685 135821 HGNC:3601 "ENST00000404922.8|NM_001004019.2" +HGNC:3602 FBLN5 fibulin 5 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "EVEC|UP50|DANCE|ARMD3" "embryonic vascular EGF-like repeat-containing protein|developmental arteries and neural crest EGF-like" Fibulins 556 1999-06-25 2021-05-26 10516 ENSG00000140092 OTTHUMG00000171122 uc001xzx.5 AJ133490 NM_001384158 CCDS9898 Q9UBX5 10640802 MGI:1346091 RGD:2594 LRG_364|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_364.xml 604580 121746 HGNC:3602 "ENST00000342058.9|NM_006329.4" HGNC:3602 +HGNC:26740 FBLN7 fibulin 7 protein-coding gene gene with protein product Approved 2q13 02q13 "FLJ37440|TM14" "Fibulins|Sushi domain containing" "556|1179" 2007-10-15 2014-11-19 129804 ENSG00000144152 OTTHUMG00000153267 uc002tho.2 NM_153214 "CCDS46391|CCDS2095" Q53RD9 17699513 MGI:1917620 RGD:1310131 611551 470320 HGNC:26740 "ENST00000331203.7|NM_153214.3" +HGNC:3603 FBN1 fibrillin 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "MASS|OCTD|SGS" "Marfan syndrome|asprosin" "FBN|MFS1|WMS" fibrillin 1 (Marfan syndrome) Fibrillins 1888 1987-09-11 2006-04-25 2021-05-26 2200 ENSG00000166147 OTTHUMG00000172218 uc001zwx.3 X63556 NM_000138 CCDS32232 P35555 "10036187|12525539" MGI:95489 RGD:620908 "UMD Locus Specific Databases|http://www.umd.be/|LRG_778|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_778.xml" 134797 121752 ligandId:9200 HGNC:3603 "ENST00000316623.10|NM_000138.5" HGNC:3603 +HGNC:55413 FBN1-DT FBN1 divergent transcript non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 Divergent transcripts 1990 2021-01-06 2021-05-24 2021-05-24 105370809 ENSG00000259705 XR_007064627 +HGNC:3604 FBN2 fibrillin 2 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 DA9 fibrillin 5 CCA congenital contractural arachnodactyly Fibrillins 1888 1991-08-21 2008-08-01 2021-05-26 2201 ENSG00000138829 OTTHUMG00000163082 uc063gqk.1 U03272 NM_001999 CCDS34222 P35556 "1852206|8120105" MGI:95490 RGD:620910 612570 121760 HGNC:3604 "ENST00000262464.9|NM_001999.4" HGNC:3604 +HGNC:18794 FBN3 fibrillin 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 KIAA1776 Fibrillins 1888 2002-07-25 2019-05-08 84467 ENSG00000142449 OTTHUMG00000182462 uc002mjf.4 NM_032447 CCDS12196 Q75N90 "14962672|25034023" 608529 HGNC:18794 "ENST00000600128.6|NM_032447.5" +HGNC:3606 FBP1 fructose-bisphosphatase 1 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 FBP fructose-1,6-bisphosphatase 1 Fructose-1,6-bisphosphatases 1075 1993-08-19 2015-11-27 2021-05-26 2203 ENSG00000165140 OTTHUMG00000020268 uc010mrl.4 M19922 NM_000507 CCDS6712 P09467 8387495 MGI:95492 RGD:2595 611570 121763 3.1.3.11 HGNC:3606 "ENST00000375326.9|NM_000507.4" HGNC:3606 +HGNC:3607 FBP2 fructose-bisphosphatase 2 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 fructose-1,6-bisphosphatase 2 Fructose-1,6-bisphosphatases 1075 1998-12-09 2015-11-27 2016-10-05 8789 ENSG00000130957 OTTHUMG00000020269 uc004auv.5 Y10812 NM_003837 CCDS6711 O00757 9678974 MGI:95491 RGD:620930 603027 3.1.3.11 HGNC:3607 "ENST00000375337.4|NM_003837.4" +HGNC:49924 FBP2P1 fructose-bisphosphatase 2 pseudogene 1 pseudogene pseudogene Approved 9q22.1 09q22.1 fructose-1,6-bisphosphatase 2 pseudogene 1 2014-03-21 2018-08-14 2018-08-14 100420269 ENSG00000237743 OTTHUMG00000020158 NG_023842 PGOHUM00000236240 HGNC:49924 +HGNC:20442 FBRS fibrosin protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FBS|FLJ11618" FBS1 fibrosin 1 2003-02-11 2007-04-18 2007-04-18 2014-11-19 64319 ENSG00000156860 OTTHUMG00000132390 uc002dzd.4 AK021680 NM_022452 CCDS45462 Q9HAH7 "7892239|9809749" MGI:104648 RGD:1594591 608601 HGNC:20442 "ENST00000356166.11|NM_001105079.3" +HGNC:29308 FBRSL1 fibrosin like 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 KIAA1545 fibrosin-like 1 MicroRNA protein coding host genes 1691 2008-12-09 2016-03-09 2016-03-09 57666 ENSG00000112787 OTTHUMG00000167991 uc001ukf.4 NM_001142641 CCDS45010 Q9HCM7 10997877 MGI:1920907 RGD:1563342 HGNC:29308 "ENST00000680143.1|NM_001367871.1" +HGNC:13598 FBXL2 F-box and leucine rich repeat protein 2 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "FBL2|FBL3" F-box and leucine rich repeat proteins 558 2000-09-27 2016-06-06 2016-06-06 25827 ENSG00000153558 OTTHUMG00000130745 uc003cfp.4 AF174589 NM_012157 CCDS2658 Q9UKC9 "10508920|10531035" MGI:1919429 RGD:1562243 605652 HGNC:13598 "ENST00000484457.6|NM_012157.5" +HGNC:13599 FBXL3 F-box and leucine rich repeat protein 3 protein-coding gene gene with protein product Approved 13q22.3 13q22.3 "FBL3|FBL3A" FBXL3A F-box and leucine-rich repeat protein 3A F-box and leucine rich repeat proteins 558 2000-09-27 2004-07-21 2016-06-06 2021-05-26 26224 ENSG00000005812 OTTHUMG00000017099 uc001vkd.4 AF129532 NM_012158 CCDS9457 Q9UKT7 "10531035|10828603" MGI:1354702 RGD:1305660 605653 HGNC:13599 "ENST00000355619.10|NM_012158.4" HGNC:13599 +HGNC:13601 FBXL4 F-box and leucine rich repeat protein 4 protein-coding gene gene with protein product Approved 6q16.1-q16.2 06q16.1-q16.2 "FBL4|FBL5" F-box and leucine rich repeat proteins 558 2000-09-27 2016-06-06 2021-05-26 26235 ENSG00000112234 OTTHUMG00000015259 uc003ppg.3 AF176699 NM_001278716 CCDS5041 Q9UKA2 10531035 MGI:2140367 RGD:1305724 605654 376502 HGNC:13601 "ENST00000369244.7|NM_001278716.2" HGNC:13601 +HGNC:13602 FBXL5 F-box and leucine rich repeat protein 5 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "FBL4|FBL5|FLR1" F-box and leucine rich repeat proteins 558 2000-09-27 2016-06-06 2016-10-05 26234 ENSG00000118564 OTTHUMG00000097097 uc003goc.3 AF174591 NM_001193534 "CCDS54745|CCDS3415" Q9UKA1 10531035 MGI:2152883 RGD:1306887 605655 HGNC:13602 "ENST00000341285.8|NM_012161.4" +HGNC:13603 FBXL6 F-box and leucine rich repeat protein 6 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FBL6 F-box and leucine rich repeat proteins 558 2000-09-27 2016-06-06 2016-06-06 26233 ENSG00000182325 OTTHUMG00000165169 uc003zcb.4 AF174592 NM_024555 "CCDS6422|CCDS47942" Q8N531 "10531035|10531037" MGI:1354705 RGD:1359687 609076 HGNC:13603 "ENST00000331890.6|NM_012162.4" +HGNC:13604 FBXL7 F-box and leucine rich repeat protein 7 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "KIAA0840|FBL7|FBL6" "F-box and leucine rich repeat proteins|MicroRNA protein coding host genes" "558|1691" 2000-09-27 2016-06-06 2021-05-26 23194 ENSG00000183580 OTTHUMG00000161798 uc003jfn.3 AB020647 NM_012304 "CCDS64129|CCDS54833" Q9UJT9 "10048485|10531035" MGI:3052506 RGD:1305813 605656 HGNC:13604 "ENST00000504595.2|NM_012304.5" +HGNC:17875 FBXL8 F-box and leucine rich repeat protein 8 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 Fbl8 F-box and leucine rich repeat proteins 558 2001-12-20 2016-06-06 2016-10-05 55336 ENSG00000135722 OTTHUMG00000137514 uc002erk.2 AK002140 NM_018378 CCDS10831 Q96CD0 MGI:1354697 RGD:1566420 609077 HGNC:17875 "ENST00000258200.8|NM_018378.3" +HGNC:13611 FBXL12 F-box and leucine rich repeat protein 12 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ20188|Fbl12" F-box and leucine rich repeat proteins 558 2003-06-09 2016-06-06 2016-07-25 54850 ENSG00000127452 OTTHUMG00000180212 uc002mme.3 AK000195 NM_017703 "CCDS12218|CCDS82287" Q9NXK8 10531037 MGI:1354738 RGD:1305528 609079 HGNC:13611 "ENST00000247977.9|NM_017703.3" +HGNC:54776 FBXL12P1 FBXL12 pseudogene 1 pseudogene pseudogene Approved 2p14 02p14 2020-01-08 2020-01-21 402076 ENSG00000235968 NG_021504 +HGNC:21658 FBXL13 F-box and leucine rich repeat protein 13 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC21636|Fbl13|DRC6|CFAP169" cilia and flagella associated protein 169 "F-box and leucine rich repeat proteins|Dynein regulatory complex|Cilia and flagella associated" "558|981|1491" 2004-06-15 2016-06-06 2020-01-28 222235 ENSG00000161040 OTTHUMG00000157224 uc003vaq.3 BC031285 NM_145032 "CCDS47678|CCDS5726|CCDS75649" Q8NEE6 MGI:2443416 RGD:1642425 609080 HGNC:21658 +HGNC:28624 FBXL14 F-box and leucine rich repeat protein 14 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "MGC40195|Fbl14" F-box and leucine rich repeat proteins 558 2004-01-08 2016-06-06 2019-02-20 144699 ENSG00000171823 OTTHUMG00000090369 uc001qjh.3 BC028132 NM_152441 CCDS8509 Q8N1E6 19955572 MGI:2141676 RGD:1305523 609081 HGNC:28624 "ENST00000339235.4|NM_152441.3" +HGNC:28155 FBXL15 F-box and leucine rich repeat protein 15 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "MGC11279|Fbl15" FBXO37 F-box only protein 37 F-box and leucine rich repeat proteins 558 2004-04-07 2004-06-16 2016-06-06 2018-11-15 79176 ENSG00000107872 OTTHUMG00000018957 uc001kvk.2 BC036120 NM_024326 CCDS31273 Q9H469 MGI:1915681 RGD:1306444 610287 HGNC:28155 "ENST00000369956.8|NM_024326.4" +HGNC:14150 FBXL16 F-box and leucine rich repeat protein 16 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MGC33974|Fbl16" C16orf22 chromosome 16 open reading frame 22 F-box and leucine rich repeat proteins 558 2000-12-21 2004-06-16 2016-06-06 2016-06-06 146330 ENSG00000127585 OTTHUMG00000090420 uc021taa.2 BC036680 NM_153350 CCDS10421 Q8N461 11157797 MGI:2448488 RGD:1309127 609082 HGNC:14150 "ENST00000397621.6|NM_153350.4" +HGNC:13615 FBXL17 F-box and leucine rich repeat protein 17 protein-coding gene gene with protein product Approved 5q21.3 05q21.3 "DKFZP434C1715|Fbx13|Fbl17" FBXO13 F-box only protein 13 F-box and leucine rich repeat proteins 558 2003-01-15 2004-06-16 2016-06-06 2016-06-06 64839 ENSG00000145743 OTTHUMG00000159785 uc011cvc.3 AL133602 NM_001163315 CCDS54886 Q9UF56 MGI:1354704 RGD:1309773 609083 HGNC:13615 "ENST00000542267.7|NM_001163315.3" +HGNC:21874 FBXL18 F-box and leucine rich repeat protein 18 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "FLJ11467|Fbl18" "F-box and leucine rich repeat proteins|MicroRNA protein coding host genes" "558|1691" 2004-06-15 2016-06-06 2016-10-05 80028 ENSG00000155034 OTTHUMG00000151832 uc003son.5 AK057042 NM_024963 CCDS43546 Q96ME1 MGI:2444450 RGD:1596958 609084 HGNC:21874 "ENST00000382368.8|NM_024963.6" +HGNC:25300 FBXL19 F-box and leucine rich repeat protein 19 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "DKFZp434K0410|Fbl19|JHDM1C|CXXC11" jumonji C domain-containing histone demethylase 1C "PHD finger proteins|Zinc fingers CXXC-type|F-box and leucine rich repeat proteins" "88|136|558" 2004-06-15 2016-06-06 2016-06-06 54620 ENSG00000099364 OTTHUMG00000132403 uc002eab.2 AK127701 NM_019085 "CCDS73873|CCDS45465" Q6PCT2 MGI:3039600 RGD:1310989 609085 HGNC:25300 "ENST00000338343.10|NM_001382779.1" +HGNC:27557 FBXL19-AS1 FBXL19 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 "MGC125469|MGC125470|MGC125472" NCRNA00095 "non-protein coding RNA 95|FBXL19 antisense RNA 1 (non-protein coding)|FBXL19 antisense RNA 1|FBXL19 antisense RNA 1 (head to head)" Antisense RNAs 1987 2008-09-03 2011-03-30 2018-03-22 2019-06-19 283932 ENSG00000260852 OTTHUMG00000176767 uc002dzy.4 AK090544 NR_024348 Q494R0 "28479250|31210311" FBXL19-AS1 HGNC:27557 +HGNC:24679 FBXL20 F-box and leucine rich repeat protein 20 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC15482|Fbl2|Fbl20" F-box and leucine rich repeat proteins 558 2004-06-15 2016-06-06 2019-02-20 84961 ENSG00000108306 OTTHUMG00000179002 uc002hrt.4 BC007557 NM_032875 "CCDS54116|CCDS32640" Q96IG2 25593308 MGI:1919444 RGD:621722 609086 HGNC:24679 "ENST00000264658.11|NM_032875.3" +HGNC:13600 FBXL21P F-box and leucine rich repeat protein 21, pseudogene pseudogene pseudogene Approved 5q31.1 05q31.1 "FBL3B|Fbl21" "FBXL3B|FBXL3P|FBXL21" "F-box and leucine-rich repeat protein 3 pseudogene|F-box and leucine-rich repeat protein 21|F-box and leucine rich repeat protein 21 (gene/pseudogene)" F-box and leucine rich repeat proteins 558 2000-09-27 2018-10-24 2018-10-24 2021-10-07 26223 ENSG00000164616 OTTHUMG00000155971 AF129533 NR_152420 Q9UKT6 10531035 MGI:2442921 RGD:1305555 609087 HGNC:13600 +HGNC:27537 FBXL22 F-box and leucine rich repeat protein 22 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "Fbl22|FLJ39626" F-box and leucine rich repeat proteins 558 2004-08-09 2016-06-06 2016-10-05 283807 ENSG00000197361 OTTHUMG00000132905 uc002amn.5 BC065833 NM_203373 CCDS10187 Q6P050 22972877 MGI:1921415 RGD:1311830 609088 HGNC:27537 "ENST00000638704.2|NM_001367807.1" +HGNC:13581 FBXO2 F-box protein 2 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FBX2|Nfb42|Fbs1|Fbg1" OCP1 "F-box only protein 2|organ of Corti protein 1" F-boxes other 560 2000-09-27 2004-06-15 2016-10-05 26232 ENSG00000116661 OTTHUMG00000002072 uc001asj.4 AF174594 NM_012168 CCDS130 Q9UK22 "10531035|10531037" MGI:2446216 RGD:621751 607112 HGNC:13581 "ENST00000354287.5|NM_012168.6" +HGNC:13582 FBXO3 F-box protein 3 protein-coding gene gene with protein product Approved 11p13 11p13 "FBX3|FBA" F-box only protein 3 F-boxes other 560 2000-09-27 2004-06-15 2014-11-19 26273 ENSG00000110429 OTTHUMG00000166244 uc001muz.4 AK001943 NM_012175 "CCDS44566|CCDS7887" Q9UK99 10531037 MGI:1929084 RGD:1593433 609089 HGNC:13582 "ENST00000265651.8|NM_012175.4" +HGNC:51147 FBXO3-DT FBXO3 divergent transcript non-coding RNA RNA, long non-coding Approved 11p13 11p13 FBXO3-AS1 FBXO3 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-07-30 2018-03-23 2018-03-23 2018-03-23 101928440 ENSG00000254508 OTTHUMG00000166272 NR_120550 FBXO3-AS1 HGNC:51147 +HGNC:13583 FBXO4 F-box protein 4 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 FBX4 F-box only protein 4 F-boxes other 560 2000-09-27 2004-06-15 2016-10-05 26272 ENSG00000151876 OTTHUMG00000094799 uc003jmq.4 AF129534 NM_001297437 "CCDS3938|CCDS75238|CCDS3939" Q9UKT5 "10531035|10531037" MGI:2146220 RGD:1307580 609090 HGNC:13583 "ENST00000281623.8|NM_012176.3" +HGNC:13584 FBXO5 F-box protein 5 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "FBX5|Fbxo31|EMI1" F-box only protein 5 F-boxes other 560 2000-09-27 2004-06-15 2016-10-05 26271 ENSG00000112029 OTTHUMG00000015854 uc003qpg.4 AF129535 NM_001142522 "CCDS5242|CCDS47501" Q9UKT4 "10531035|10531037" MGI:1914391 RGD:1309405 606013 HGNC:13584 "ENST00000229758.8|NM_012177.5" +HGNC:13585 FBXO6 F-box protein 6 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FBX6|FBG2|FBS2|Fbx6b" F-box only protein 6 F-boxes other 560 2000-09-27 2004-06-15 2015-09-01 26270 ENSG00000116663 OTTHUMG00000002229 uc001aso.4 AF129536 NM_018438 CCDS133 Q9NRD1 "10531035|10945468" MGI:1354743 RGD:620418 605647 HGNC:13585 "ENST00000376753.9|NM_018438.6" +HGNC:13586 FBXO7 F-box protein 7 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "FBX7|Fbx|PARK15" F-box only protein 7 F-boxes other 560 2000-09-27 2004-06-15 2021-05-26 25793 ENSG00000100225 OTTHUMG00000030674 uc003amq.4 AF129537 NM_001033024 "CCDS13907|CCDS58806|CCDS46695" Q9Y3I1 "10531035|10531037|19038853" MGI:1917004 RGD:1305648 605648 181111 HGNC:13586 "ENST00000266087.12|NM_012179.4" HGNC:13586 +HGNC:13587 FBXO8 F-box protein 8 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 "FBX8|FBS" F-box only protein 8 "F-boxes other|Sec7 family" "560|1945" 2000-09-27 2004-06-15 2016-10-24 26269 ENSG00000164117 OTTHUMG00000160746 uc003itp.4 AF174596 NM_012180 CCDS3820 Q9NRD0 "10531035|10531037" MGI:1354696 RGD:1307596 605649 HGNC:13587 "ENST00000393674.7|NM_012180.3" +HGNC:13588 FBXO9 F-box protein 9 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "FBX9|NY-REN-57" F-box only protein 9 F-boxes other 560 2000-09-27 2004-06-15 2016-10-05 26268 ENSG00000112146 OTTHUMG00000014869 uc063pbe.1 AF155114 NM_012347 "CCDS55023|CCDS55022|CCDS55024" Q9UK97 "10531035|10531037" MGI:1918788 RGD:1310374 609091 HGNC:13588 "ENST00000323557.12|NM_033480.3" +HGNC:13589 FBXO10 F-box protein 10 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 FBX10 F-box only protein 10 F-boxes other 560 2000-09-27 2004-06-15 2016-10-05 26267 ENSG00000147912 OTTHUMG00000019926 uc004aab.3 AF174598 NM_012166 CCDS47966 Q9UK96 "10531035|10531037|19300908" MGI:2686937 RGD:1305465 609092 objectId:2655 HGNC:13589 "ENST00000432825.7|NM_012166.3" +HGNC:13590 FBXO11 F-box protein 11 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "FBX11|UBR6" ubiquitin protein ligase E3 component n-recognin 6 F-box only protein 11 "F-boxes other|Ubiquitin protein ligase E3 component n-recognins" "560|785" 2000-09-27 2008-06-23 2008-06-23 2021-05-26 80204 ENSG00000138081 OTTHUMG00000129130 uc010fbl.3 AF174599 "NM_012167|NM_018693|NM_025133" "CCDS1837|CCDS54357" Q86XK2 "10531035|16487488|18162545" MGI:2147134 RGD:727935 FBXO11 607871 objectId:1260 HGNC:13590 "ENST00000403359.8|NM_001190274.2" HGNC:13590 +HGNC:13617 FBXO15 F-box protein 15 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "MGC39671|FBX15" F-box only protein 15 F-boxes other 560 2003-12-05 2004-06-15 2021-05-26 201456 ENSG00000141665 OTTHUMG00000132842 uc002llf.3 AK094215 NM_152676 CCDS45884 Q8NCQ5 12665572 MGI:1354755 RGD:1310628 609093 HGNC:13617 "ENST00000419743.7|NM_001142958.2" HGNC:13617 +HGNC:13618 FBXO16 F-box protein 16 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 FBX16 F-box only protein 16 F-boxes other 560 2003-06-09 2004-06-15 2014-11-19 157574 ENSG00000214050 OTTHUMG00000102147 uc003xgu.5 AF453435 NM_172366 "CCDS6068|CCDS59099" Q8IX29 12243353 MGI:1354706 RGD:1305049 608519 HGNC:13618 "ENST00000380254.7|NM_172366.4" +HGNC:18754 FBXO17 F-box protein 17 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FBG4|FLJ25205|MGC9379|FLJ11798|Fbx17" F-box only protein 26 FBXO26 F-box only protein 17 F-boxes other 560 2002-07-22 2004-06-16 2004-06-15 2020-01-06 115290 ENSG00000269190 OTTHUMG00000182718 uc002okg.3 AF386743 NM_024907 CCDS12526 Q96EF6 MGI:1354707 RGD:1308308 609094 HGNC:18754 "ENST00000292852.9|NM_024907.7" +HGNC:13592 FBXO21 F-box protein 21 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 "FBX21|KIAA0875" F-box only protein 21 F-boxes other 560 2000-09-27 2004-06-15 2016-10-05 23014 ENSG00000135108 OTTHUMG00000169495 uc001twk.4 AB020682 NM_033624 "CCDS9184|CCDS44989" O94952 "10048485|10531035" MGI:1924223 RGD:1307346 609095 HGNC:13592 "ENST00000622495.5|NM_015002.3" +HGNC:13593 FBXO22 F-box protein 22 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "FBX22|FISTC1" FIST domain containing 1 F-box only protein 22 F-boxes other 560 2000-09-27 2004-06-15 2016-10-05 26263 ENSG00000167196 OTTHUMG00000142841 uc002bbk.4 AF174602 NM_147188 "CCDS10287|CCDS45310" Q8NEZ5 "10531035|10531037|17855421" MGI:1926014 RGD:1306664 609096 HGNC:13593 "ENST00000308275.8|NM_147188.3" +HGNC:13595 FBXO24 F-box protein 24 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FBX24 F-box only protein 24 F-boxes other 560 2000-09-27 2004-06-15 2016-10-05 26261 ENSG00000106336 OTTHUMG00000159543 uc011kjz.2 AF174604 NM_001163499 "CCDS55138|CCDS5699|CCDS5698" O75426 "10531035|10531037" MGI:1918426 RGD:1305095 609097 HGNC:13595 "ENST00000241071.11|NM_033506.3" +HGNC:13596 FBXO25 F-box protein 25 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 FBX25 F-box only protein 25 F-boxes other 560 2000-09-27 2004-06-15 2021-05-26 26260 ENSG00000147364 OTTHUMG00000090341 uc003wpb.3 AF174605 NM_012173 "CCDS5954|CCDS5952|CCDS5953" Q8TCJ0 "10531035|10531037" MGI:1914072 RGD:1359105 609098 HGNC:13596 "ENST00000350302.8|NM_183420.2" +HGNC:18753 FBXO27 F-box protein 27 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "Fbg5|Fbx27" F-box only protein 27 F-boxes other 560 2002-07-22 2004-06-15 2019-08-20 126433 ENSG00000161243 OTTHUMG00000182719 uc002okh.5 AF436061 NM_178820 CCDS12527 Q8NI29 126433 MGI:2685007 RGD:1563982 609099 HGNC:18753 "ENST00000292853.9|NM_178820.5" +HGNC:29046 FBXO28 F-box protein 28 protein-coding gene gene with protein product Approved 1q42.11 01q42.11 "FLJ10766|KIAA0483|Fbx28|CENP-30" centromere protein 30 F-boxes other 560 2004-06-15 2021-05-26 23219 ENSG00000143756 OTTHUMG00000037495 uc001hoh.3 AK001628 NM_015176 "CCDS1539|CCDS44320" Q9NVF7 9455484 MGI:1261890 RGD:1304584 609100 470322 HGNC:29046 "ENST00000366862.10|NM_015176.4" +HGNC:15600 FBXO30 F-box protein 30 protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "MGC21674|Fbx30" F-box only protein, helicase, 18 F-boxes other 560 2001-05-15 2004-06-15 2016-10-05 84085 ENSG00000118496 OTTHUMG00000015749 uc003qla.4 AF248640 NM_001348092 CCDS5208 Q8TB52 MGI:1919115 RGD:1359367 609101 HGNC:15600 "ENST00000237281.5|NM_032145.5" +HGNC:16510 FBXO31 F-box protein 31 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "FBX14|FBXO14|Fbx31|MGC15419" F-box only protein 31 F-boxes other 560 2001-09-12 2004-05-27 2020-04-20 79791 ENSG00000103264 OTTHUMG00000175685 uc002fjw.5 BC002985 NM_024735 "CCDS73922|CCDS32501" Q5XUX0 MGI:1354708 RGD:1561069 609102 410726 HGNC:16510 "ENST00000311635.12|NM_024735.5" HGNC:16510 +HGNC:16731 FBXO32 F-box protein 32 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MAFbx|ATROGIN1|Fbx32" F-box only protein 32 F-boxes other 560 2001-10-04 2004-06-15 2014-11-18 114907 ENSG00000156804 OTTHUMG00000164981 uc003yqr.4 AJ420108 NM_001242463 "CCDS6345|CCDS56553" Q969P5 "11679633|11717410" MGI:1914981 RGD:620373 606604 HGNC:16731 "ENST00000517956.5|NM_058229.4" +HGNC:19833 FBXO33 F-box protein 33 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 Fbx33 F-box only protein 33 F-boxes other 560 2002-11-27 2004-06-15 2016-10-05 254170 ENSG00000165355 OTTHUMG00000140257 uc001wvk.4 BI460761 NM_203301 CCDS9677 Q7Z6M2 MGI:1917861 RGD:1307543 609103 HGNC:19833 "ENST00000298097.8|NM_203301.4" +HGNC:20201 FBXO34 F-box protein 34 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "FLJ20725|Fbx34" F-box only protein 34 F-boxes other 560 2003-01-08 2004-06-15 2016-10-05 55030 ENSG00000178974 OTTHUMG00000171033 uc001xbu.4 AK000732 NM_017943 CCDS32086 Q9NWN3 MGI:1926188 RGD:1310108 609104 HGNC:20201 "ENST00000313833.5|NM_017943.4" +HGNC:55450 FBXO34-AS1 FBXO34 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q22.3 14q22.3 Antisense RNAs 1987 2021-01-20 2021-01-20 105370509 ENSG00000258413 XR_943889 +HGNC:27020 FBXO36 F-box protein 36 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "Fbx36|FLJ37592" F-box only protein 36 F-boxes other 560 2004-01-08 2004-06-15 2016-10-05 130888 ENSG00000153832 OTTHUMG00000133206 uc002vqa.4 BC033935 NM_174899 CCDS2472 Q8NEA4 12477932 MGI:1289192 RGD:1307870 609105 HGNC:27020 "ENST00000283946.8|NM_174899.5" +HGNC:41489 FBXO36-IT1 FBXO36 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q36.3 02q36.3 FBXO36 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874344 ENSG00000231534 OTTHUMG00000153612 uc061thr.1 FBXO36-IT1 +HGNC:50363 FBXO36P1 F-box protein 36 pseudogene 1 pseudogene pseudogene Approved 17q24.2 17q24.2 2014-04-23 2014-04-23 732538 ENSG00000266117 OTTHUMG00000179785 NG_005697 PGOHUM00000237492 HGNC:50363 +HGNC:28844 FBXO38 F-box protein 38 protein-coding gene gene with protein product Approved 5q32 05q32 "MOKA|SP329|FLJ13962|Fbx38" F-boxes other 560 2004-06-15 2021-05-26 81545 ENSG00000145868 OTTHUMG00000129929 uc031slt.2 BC005873 NM_030793 "CCDS64285|CCDS43384|CCDS4290" Q6PIJ6 24207122 MGI:2444639 RGD:1311505 608533 400617 HGNC:28844 "ENST00000340253.10|NM_205836.3" HGNC:28844 +HGNC:55589 FBXO38-DT FBXO38 divergent transcript non-coding RNA RNA, long non-coding Approved 5q32 05q32 Divergent transcripts 1990 2021-04-28 2021-04-28 102546294 ENSG00000247199 NR_105057 +HGNC:28565 FBXO39 F-box protein 39 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC35179|Fbx39|CT144" F-boxes other 560 2004-06-15 2019-02-20 162517 ENSG00000177294 OTTHUMG00000102062 uc010vtg.3 BC034782 NM_153230 CCDS11082 Q8N4B4 21338577 MGI:3505735 RGD:1311464 609106 HGNC:28565 "ENST00000321535.5|NM_153230.3" +HGNC:29816 FBXO40 F-box protein 40 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "KIAA1195|Fbx40" F-boxes other 560 2004-06-15 2016-10-05 51725 ENSG00000163833 OTTHUMG00000159410 uc003eeg.3 AF204674 NM_016298 CCDS33835 Q9UH90 10574462 MGI:2443753 RGD:1309781 609107 HGNC:29816 "ENST00000338040.6|NM_016298.4" +HGNC:29409 FBXO41 F-box protein 41 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "KIAA1940|Fbx41" F-boxes other 560 2004-06-15 2016-10-24 150726 ENSG00000163013 OTTHUMG00000164127 uc061kqf.1 AB075820 NM_001080410 CCDS46337 Q8TF61 11853319 MGI:1261912 RGD:1566130 609108 HGNC:29409 "ENST00000520530.3|NM_001371389.2" +HGNC:29249 FBXO42 F-box protein 42 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "KIAA1332|Fbx42" F-boxes other 560 2004-06-15 2016-10-05 54455 ENSG00000037637 OTTHUMG00000002218 uc001ayg.4 BC063864 NM_018994 CCDS30613 Q6P3S6 10718198 MGI:1924992 RGD:1304787 609109 HGNC:29249 "ENST00000375592.8|NM_018994.3" +HGNC:28521 FBXO43 F-box protein 43 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 Fbx43 F-boxes other 560 2004-06-15 2018-11-15 286151 ENSG00000156509 OTTHUMG00000164803 uc003yjd.4 BC028709 NM_001029860 CCDS47904 Q4G163 MGI:1926053 RGD:1310225 609110 HGNC:28521 "ENST00000428847.3|NM_001029860.4" +HGNC:24847 FBXO44 F-box protein 44 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FBX30|FBG3|MGC14140|Fbxo6a|Fbx44" F-boxes other 560 2004-06-15 2016-10-05 93611 ENSG00000132879 OTTHUMG00000002071 uc001asl.3 AY040878 NM_183412 "CCDS81261|CCDS131|CCDS132" Q9H4M3 12383498 MGI:1354744 RGD:1562463 609111 HGNC:24847 "ENST00000251547.10|NM_033182.7" +HGNC:29148 FBXO45 F-box protein 45 protein-coding gene gene with protein product Approved 3q29 03q29 Fbx45 F-boxes other 560 2004-10-20 2014-11-18 200933 ENSG00000174013 OTTHUMG00000155571 uc010iai.4 AK025697 NM_001105573 CCDS46985 P0C2W1 MGI:2447775 RGD:1311861 609112 HGNC:29148 "ENST00000311630.7|NM_001105573.2" +HGNC:25069 FBXO46 F-box protein 46 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "20D7-FC4|Fbx46" FBXO34L F-box only protein 34-like F-boxes other 560 2004-02-11 2004-06-16 2004-06-15 2018-11-15 23403 ENSG00000177051 OTTHUMG00000182132 uc002pcz.4 BC021978 NM_001329632 CCDS46116 Q6PJ61 9585442 MGI:2444918 RGD:1308393 609117 HGNC:25069 "ENST00000317683.4|NM_001080469.2" +HGNC:31969 FBXO47 F-box protein 47 protein-coding gene gene with protein product Approved 17q12 17q12 F-boxes other 560 2007-08-20 2014-11-18 494188 ENSG00000204952 OTTHUMG00000178945 uc002hrc.2 NM_001008777 CCDS32639 Q5MNV8 15723337 MGI:1920223 RGD:1559709 609498 HGNC:31969 "ENST00000378079.3|NM_001008777.3" +HGNC:33857 FBXO48 F-box protein 48 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 F-boxes other 560 2008-05-07 2014-11-19 554251 ENSG00000204923 OTTHUMG00000152585 uc002seo.5 BC089423 NM_001024680 CCDS33213 Q5FWF7 MGI:2442569 RGD:1309073 HGNC:33857 "ENST00000377957.4|NM_001024680.3" +HGNC:13608 FBXW2 F-box and WD repeat domain containing 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "FBW2|Md6|Fwd2" F-box and WD-40 domain protein 2 "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2000-09-27 2007-02-08 2016-10-05 26190 ENSG00000119402 OTTHUMG00000020576 uc004bkm.2 AF129531 NM_001375888 CCDS43872 Q9UKT8 "10531035|10828603" MGI:1353435 RGD:1310460 609071 HGNC:13608 "ENST00000608872.6|NM_012164.4" +HGNC:10847 FBXW4 F-box and WD repeat domain containing 4 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "Fbw4|dactylin" SHFM3 "split hand/foot malformation (ectrodactyly) type 3|F-box and WD-40 domain protein 4" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 1994-09-26 2005-03-12 2007-02-08 2016-10-05 6468 ENSG00000107829 OTTHUMG00000018938 uc001kto.4 AF281859 NM_022039 CCDS31271 P57775 "8723077|7912888" MGI:1354698 RGD:1306518 608071 HGNC:10847 "ENST00000331272.9|NM_022039.4" HGNC:10847 +HGNC:13609 FBXW4P1 F-box and WD repeat domain containing 4 pseudogene 1 pseudogene pseudogene Approved 22q11.23 22q11.23 FBW3 "FBXW3|SHFM3P1" "F-box and WD-40 domain protein 3|split hand/foot malformation (ectrodactyly) type 3 pseudogene 1" 2000-09-27 2008-08-20 2008-08-20 2016-07-22 26226 ENSG00000230701 OTTHUMG00000030931 AF174606 NR_033408 "10531035|10531037" PGOHUM00000297709 HGNC:13609 +HGNC:13613 FBXW5 F-box and WD repeat domain containing 5 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "DKFZP434B205|MGC20962|Fbw5" F-box and WD-40 domain protein 5 "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2003-06-09 2007-02-08 2014-11-19 54461 ENSG00000159069 OTTHUMG00000020967 uc004cjx.4 BC014130 NM_018998 CCDS7014 Q969U6 MGI:1354731 RGD:1305661 609072 HGNC:13613 "ENST00000325285.8|NM_018998.4" +HGNC:16712 FBXW7 F-box and WD repeat domain containing 7 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "AGO|FLJ11071|SEL-10|SEL10|FBW7|FBX30|CDC4|FBXW6" archipelago homolog (Drosophila) "F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)|F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase" "WD repeat domain containing|F-box and WD repeat domain containing|MicroRNA protein coding host genes" "362|559|1691" 2001-12-20 2015-11-20 2021-04-13 55294 ENSG00000109670 OTTHUMG00000185246 uc003imt.4 AF411971 NM_001013415 "CCDS34078|CCDS3777|CCDS64082|CCDS3778" Q969H0 "10531037|11425854" MGI:1354695 RGD:2321145 LRG_1141|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1141.xml FBXW7 606278 HGNC:16712 "ENST00000281708.10|NM_001349798.2" +HGNC:52397 FBXW7-AS1 FBXW7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.3 04q31.3 "DEAR|DEspR" "dual-endothelin1/VEGFsp receptor|dual endothelin-1(VEGFsp)/angiotensin II receptor" Antisense RNAs 1987 2016-10-13 2021-02-24 102191832 ENSG00000270751 OTTHUMG00000185247 NR_104273 B0L3A2 HGNC:52397 +HGNC:13597 FBXW8 F-box and WD repeat domain containing 8 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 "FBX29|FBW6|FBW8" FBXO29 "F-box only protein 29|F-box and WD-40 domain protein 8" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2000-09-27 2003-06-13 2007-02-08 2015-08-25 26259 ENSG00000174989 OTTHUMG00000169329 uc001twg.2 AF176707 NM_012174 "CCDS9182|CCDS44988" Q8N3Y1 "10531035|10531037" MGI:1923041 RGD:1306032 609073 HGNC:13597 "ENST00000652555.1|NM_153348.3" +HGNC:28136 FBXW9 F-box and WD repeat domain containing 9 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "MGC10870|Fbw9|MEC-15" F-box and WD-40 domain protein 9 "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2004-06-15 2007-02-08 2019-02-20 84261 ENSG00000132004 OTTHUMG00000150152 uc002mum.2 BC004290 NM_032301 CCDS12278 Q5XUX1 23527112 MGI:1915878 RGD:1307002 609074 HGNC:28136 "ENST00000393261.8|NM_032301.3" +HGNC:1211 FBXW10 F-box and WD repeat domain containing 10 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "SM2SH2|HREP|Fbw10" "C17orf1|C17orf1A" "chromosome 17 open reading frame 1A|F-box and WD-40 domain protein 10" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 1998-08-06 2004-07-21 2007-02-08 2020-09-17 10517 ENSG00000171931 OTTHUMG00000059048 uc002guk.4 BC028364 NM_031456 "CCDS11199|CCDS58524" Q5XX13 "9787083|7586531" MGI:3052463 RGD:1563889 611679 HGNC:1211 "ENST00000395665.9|NM_001267585.2" +HGNC:14379 FBXW10B F-box and WD repeat domain containing 10B protein-coding gene gene with protein product Approved 17p12 17p12 "HREP|SM25H2" "FBXW10P1|CDRT1" "F-box and WD repeat domain containing 10 pseudogene 1|F-box and WD-40 domain protein 10 pseudogene 1|CMT1A duplicated region transcript 1" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2001-02-28 2021-11-18 2021-11-18 2021-11-18 374286 ENSG00000241322 OTTHUMG00000059074 uc002gov.5 U65652 NM_006382 "CCDS45619|CCDS73996" O95170 "9787083|11381029" MGI:3052463 604596 HGNC:14379 "ENST00000395906.8|NM_006382.4" +HGNC:13607 FBXW11 F-box and WD repeat domain containing 11 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "KIAA0696|Fbw1b|BTRCP2|BTRC2|Hos|Fbw11" FBXW1B "F-box and WD-40 domain protein 1B|F-box and WD-40 domain protein 11" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2000-09-27 2004-06-16 2007-02-08 2015-09-11 23291 ENSG00000072803 OTTHUMG00000163267 uc003mbl.2 AB014596 NM_012300 "CCDS47340|CCDS34289|CCDS47341" Q9UKB1 "10531035|10694485" MGI:2144023 RGD:1309121 605651 HGNC:13607 "ENST00000517395.6|NM_001378974.1" HGNC:13607 +HGNC:1145 FBXW11P1 F-box and WD repeat domain containing 11 pseudogene 1 pseudogene pseudogene Approved 21q22.11 21q22.11 "F-box and WD-40 domain protein 1B pseudogene|beta-transducin repeat containing 2, pseudogene" "BTRC2P|FBXW1BP1|FBXW1BP" "F-box and WD-40 domain protein 1B pseudogene 1|F-box and WD-40 domain protein 11 pseudogene 1" 2000-05-23 2004-06-16 2007-02-08 2012-05-22 54099 ENSG00000230870 OTTHUMG00000084868 NG_000930 PGOHUM00000239065 HGNC:1145 +HGNC:20729 FBXW12 F-box and WD repeat domain containing 12 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Fbw12 FBXO35 "F-box only protein 35|F-box and WD-40 domain protein 12" "WD repeat domain containing|F-box and WD repeat domain containing" "362|559" 2003-04-04 2004-07-21 2007-02-08 2015-09-11 285231 ENSG00000164049 OTTHUMG00000133530 uc003csr.3 "AK097594|AY247969" NM_207102 "CCDS54577|CCDS54578|CCDS2764" Q6X9E4 15040455 "MGI:2443323|MGI:2443324|MGI:3505590|MGI:3505701|MGI:3505704|MGI:3505706|MGI:3584372|MGI:3588266|MGI:3643290|MGI:3646659|MGI:3646662|MGI:3779847|MGI:1354703" RGD:1307859 609075 HGNC:20729 "ENST00000296438.9|NM_207102.2" +HGNC:24692 FCAMR Fc alpha and mu receptor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FKSG87|FCA/MR|CD351|Fcalpha/muR" Fc alpha/mu Receptor "Fc receptor, IgA, IgM, high affinity|Fc fragment of IgA and IgM receptor" "CD molecules|V-set domain containing|Fc receptors" "471|590|2120" 2005-06-03 2021-11-03 2021-11-03 83953 ENSG00000162897 OTTHUMG00000036579 uc001hfb.3 AF354295 NM_032029 "CCDS53468|CCDS41460" Q8WWV6 11779189 MGI:1927803 RGD:1584674 605484 HGNC:24692 "ENST00000324852.9|NM_001170631.2" +HGNC:3608 FCAR Fc alpha receptor protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "CD89|FcalphaRI|FcalphaR" "Fc fragment of IgA, receptor for|Fc fragment of IgA receptor" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1991-06-06 2021-11-02 2021-11-02 2204 ENSG00000186431 OTTHUMG00000065936 uc002qhr.3 X54150 NM_002000 "CCDS12907|CCDS42623|CCDS12908|CCDS42625|CCDS42622|CCDS12910|CCDS12909|CCDS42624" P24071 "1577457|2455732" RGD:1303082 147045 I43.951 objectId:2991 CD89 HGNC:3608 "ENST00000355524.8|NM_002000.4" +HGNC:3609 FCER1A Fc epsilon receptor Ia protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "FcepsilonRIalpha|FCERIA" FcepsilonRI alpha chain FCE1A "Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide|Fc fragment of IgE receptor Ia" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 1989-06-30 2021-11-03 2021-11-03 2205 ENSG00000179639 OTTHUMG00000037176 uc001ftq.4 BC015195 NM_002001 CCDS1184 P12319 "8245459|2146219|17165285" MGI:95494 RGD:2597 147140 objectId:2933 HGNC:3609 "ENST00000693622.1|NM_001387280.1" +HGNC:3611 FCER1G Fc epsilon receptor Ig protein-coding gene gene with protein product Approved 1q23.3 01q23.3 FcepsilonRIgamma FcepsilonRI gamma chain "Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide|Fc fragment of IgE receptor Ig" Fc receptors 2120 1990-08-15 2021-11-03 2021-11-03 2207 ENSG00000158869 OTTHUMG00000034343 uc001fyz.1 NM_004106 CCDS1225 P30273 "2138619|2146219" MGI:95496 RGD:2599 147139 objectId:2934 HGNC:3611 "ENST00000289902.2|NM_004106.2" +HGNC:3612 FCER2 Fc epsilon receptor II protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "CLEC4J|CD23|FCErII|FcepsilonRII" "Fc epsilon RII|C-type lectin domain family 4 member J" "CD23A|FCE2" "Fc fragment of IgE, low affinity II, receptor for (CD23A)|Fc fragment of IgE, low affinity II, receptor for (CD23)|Fc fragment of IgE receptor II" "CD molecules|C-type lectin domain containing|Fc receptors" "471|1298|2120" 1988-08-05 2021-11-03 2021-11-03 2208 ENSG00000104921 OTTHUMG00000182517 uc002mhm.3 M15059 NM_002002 CCDS12184 P06734 2527805 MGI:95497 RGD:619997 151445 objectId:2935 CD23 HGNC:3612 "ENST00000597921.6|NM_001220500.2" +HGNC:20220 FCF1 FCF1 rRNA-processing protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "CGI-35|Bka|UTP24" C14orf111 "chromosome 14 open reading frame 111|FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)" "SSU processome|Endoribonucleases" "1484|1687" 2003-01-15 2007-01-30 2019-01-22 2019-02-01 51077 ENSG00000119616 OTTHUMG00000171480 uc001xqh.4 AF132969 NM_015962 "CCDS9832|CCDS81827" Q9Y324 16762320 MGI:1920986 RGD:1310899 HGNC:20220 "ENST00000341162.8|NM_015962.5" +HGNC:44613 FCF1P1 FCF1 pseudogene 1 pseudogene pseudogene Approved 7p15.3 07p15.3 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 1 2012-11-20 2013-06-10 2013-06-10 100422533 ENSG00000227436 OTTHUMG00000152690 NG_026543 PGOHUM00000233151 HGNC:44613 +HGNC:44614 FCF1P2 FCF1 pseudogene 2 pseudogene pseudogene Approved 3p21.31 03p21.31 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 2 2012-11-20 2013-06-10 2013-06-10 101060195 ENSG00000228638 OTTHUMG00000156835 NR_134638 PGOHUM00000237620 HGNC:44614 +HGNC:44615 FCF1P3 FCF1 pseudogene 3 pseudogene pseudogene Approved 3q13.12 03q13.12 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 3 2012-11-20 2013-06-10 2013-06-10 100128733 ENSG00000239997 OTTHUMG00000159139 NG_022263 PGOHUM00000238123 HGNC:44615 +HGNC:44616 FCF1P4 FCF1 pseudogene 4 pseudogene pseudogene Approved Xq23 Xq23 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 4 2012-11-20 2013-06-10 2014-10-22 106480799 ENSG00000226112 OTTHUMG00000022200 NG_045738 PGOHUM00000305252 HGNC:44616 +HGNC:44617 FCF1P5 FCF1 pseudogene 5 pseudogene pseudogene Approved 6q21 06q21 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 5 2012-11-20 2013-06-10 2013-06-10 106479045 ENSG00000220392 OTTHUMG00000015373 NG_053000 PGOHUM00000243741 HGNC:44617 +HGNC:44618 FCF1P6 FCF1 pseudogene 6 pseudogene pseudogene Approved 1p32.3 01p32.3 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 6 2012-11-20 2013-06-10 2013-06-10 100422535 ENSG00000225671 OTTHUMG00000007883 NG_026937 PGOHUM00000244021 HGNC:44618 +HGNC:44619 FCF1P7 FCF1 pseudogene 7 pseudogene pseudogene Approved 1q43 01q43 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 7 2012-11-20 2013-06-10 2013-06-10 100422536 ENSG00000224727 OTTHUMG00000039997 NG_027811 PGOHUM00000244521 HGNC:44619 +HGNC:44620 FCF1P8 FCF1 pseudogene 8 pseudogene pseudogene Approved 4q12 04q12 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 8 2012-11-20 2013-06-10 2013-06-10 100422531 ENSG00000251111 OTTHUMG00000160653 NG_028230 PGOHUM00000245537 HGNC:44620 +HGNC:44621 FCF1P9 FCF1 pseudogene 9 pseudogene pseudogene Approved Xq21.2 Xq21.2 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 9 2012-11-20 2013-06-10 2013-06-10 106480444 ENSG00000231478 OTTHUMG00000021943 NG_012817 PGOHUM00000241882 HGNC:44621 +HGNC:44622 FCF1P10 FCF1 pseudogene 10 pseudogene pseudogene Approved 6q21 06q21 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 10 2012-11-20 2013-06-10 2013-06-10 106479046 ENSG00000218490 OTTHUMG00000015395 NG_044467 PGOHUM00000261922 HGNC:44622 +HGNC:44623 FCF1P11 FCF1 pseudogene 11 pseudogene pseudogene Approved 7q34 07q34 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) pseudogene 11 2012-11-20 2013-06-10 2013-06-10 100132310 NG_022549 PGOHUM00000261928 HGNC:44623 +HGNC:13572 FCGBP Fc gamma binding protein protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FC(GAMMA)BP|FcgammaBP" "IgG Fc binding protein|Human Fc gamma BP" Fc fragment of IgG binding protein 2000-09-26 2021-11-03 2021-11-03 8857 ENSG00000275395 OTTHUMG00000182580 uc060ynu.1 D84239 NM_003890 Q9Y6R7 "9182547|19432394" MGI:2444336 RGD:2313189 617553 I08.954 HGNC:13572 +HGNC:3613 FCGR1A Fc gamma receptor Ia protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "CD64|CD64A|FcgammaRI|FcgammaRIa|FCG1|FCGR1" Fc gamma RI "Fc fragment of IgG, high affinity Ia, receptor for (CD64)|Fc fragment of IgG, high affinity Ia, receptor (CD64)|Fc fragment of IgG receptor Ia" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1992-12-03 2021-10-28 2021-10-28 2209 ENSG00000150337 OTTHUMG00000012089 uc001esp.5 BC032634 NM_000566 CCDS933 P12314 "8697799|9763663" MGI:95498 RGD:1309912 "FCGR1Abase: Mutation registry for CD64 deficiency|http://structure.bmc.lu.se/idbase/FCGR1Abase/|LRG_59|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_59.xml" 146760 CD64A HGNC:3613 "ENST00000369168.5|NM_000566.4" +HGNC:3614 FCGR1BP Fc gamma receptor Ib, pseudogene pseudogene pseudogene Approved 1p11.2 01p11.2 CD64b FCGR1B "Fc fragment of IgG, high affinity Ib, receptor for (CD64)|Fc fragment of IgG, high affinity Ib, receptor (CD64)|Fc fragment of IgG receptor Ib" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 1992-12-03 2021-11-01 2021-11-01 2021-11-04 2210 ENSG00000198019 OTTHUMG00000040903 uc031upu.2 NM_001017986 "CCDS72844|CCDS72845|CCDS72846" Q92637 "8697799|9763663" MGI:95498 601502 HGNC:3614 +HGNC:3615 FCGR1CP Fc gamma receptor Ic, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 CD64c FCGR1C "Fc fragment of IgG, high affinity Ic, receptor for (CD64)|Fc fragment of IgG, high affinity Ic, receptor (CD64)|Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene|Fc fragment of IgG receptor Ic, pseudogene" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 1992-12-03 2016-01-13 2021-11-01 2021-11-01 100132417 ENSG00000265531 OTTHUMG00000156231 NR_027484 "8697799|9763663" 601503 PGOHUM00000251132 HGNC:3615 +HGNC:3616 FCGR2A Fc gamma receptor IIa protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD32|CD32A|IGFR2|CDw32|Fc-gamma-RIIa|FcgammaRIIa" Immunoglobulin G Fc receptor II "FCG2|FCGR2A1|FCGR2" "Fc fragment of IgG, low affinity IIa, receptor for (CD32)|Fc fragment of IgG, low affinity IIa, receptor (CD32)|Fc fragment of IgG receptor IIa" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1988-11-30 2021-11-01 2021-11-01 2212 ENSG00000143226 OTTHUMG00000034469 uc001gam.4 J03619 NM_021642 "CCDS30922|CCDS44264" P12318 "2139735|8994865" "MGI:95499|MGI:95500" RGD:71069 LRG_1109|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1109.xml 146790 objectId:3190 CD32A HGNC:3616 "ENST00000271450.12|NM_001136219.3" +HGNC:3618 FCGR2B Fc gamma receptor IIb protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD32|CD32B|FcgammaRIIb|FcGRIIB" "FCG2|FCGR2" "Fc fragment of IgG, low affinity IIb, receptor for (CD32)|Fc fragment of IgG, low affinity IIb, receptor (CD32)|Fc fragment of IgG receptor IIb" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1991-08-21 2021-11-01 2021-11-01 2213 ENSG00000072694 OTTHUMG00000034470 uc001gaz.3 BC031992 NM_004001 "CCDS53414|CCDS30925|CCDS30924" P31994 "2139735|19309690" MGI:95499 RGD:631331 FCGR2B 604590 322120 CD32B HGNC:3618 "ENST00000358671.10|NM_001394477.1" HGNC:3618 +HGNC:15626 FCGR2C Fc gamma receptor IIc (gene/pseudogene) protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "hFcRII-C|CD32C|Fc-gamma-RIIc|FcgammaRIIc" "Fc fragment of IgG, low affinity IIc, receptor for (CD32)|Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)|Fc fragment of IgG receptor IIc (gene/pseudogene)" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-06-24 2021-11-03 2021-11-03 9103 ENSG00000244682 OTTHUMG00000074101 uc057msv.1 X17653 NM_201563 P31995 "2531080|24586589" 612169 CD32C HGNC:15626 +HGNC:3619 FCGR3A Fc gamma receptor IIIa protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD16|CD16a|FcgammaRIIIa|FcGRIIIA" "FCGR3|FCG3" "Fc fragment of IgG, low affinity IIIa, receptor for (CD16)|Fc fragment of IgG, low affinity IIIa, receptor (CD16a)|Fc fragment of IgG receptor IIIa" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1988-11-30 2021-11-01 2021-11-01 2214 ENSG00000203747 OTTHUMG00000034466 uc009wui.4 BC036723 NM_000569 CCDS44266 P08637 "2139735|11835346|19309690" MGI:2179523 RGD:1303067 "FCGR3Abase: Mutation registry for Natural killer cell deficiency|http://structure.bmc.lu.se/idbase/FCGR3Abase/|LRG_60|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_60.xml" 146740 443014 objectId:3017 CD16a HGNC:3619 "ENST00000443193.6|NM_000569.8" HGNC:3619 +HGNC:3620 FCGR3B Fc gamma receptor IIIb protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD16|CD16b|FcgammaRIIIb|FcRIIIb" "FCGR3|FCG3" "Fc fragment of IgG, low affinity IIIb, receptor for (CD16)|Fc fragment of IgG, low affinity IIIb, receptor (CD16b)|Fc fragment of IgG receptor IIIb" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 1991-08-21 2021-11-01 2021-11-01 2215 ENSG00000162747 OTTHUMG00000074099 uc021pdo.2 J04162 NM_000570 "CCDS72961|CCDS72960|CCDS41433" O75015 "2139735|11034564|17529978" MGI:2179523 LRG_1238|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1238.xml 610665 159574 CD16b HGNC:3620 "ENST00000650385.1|NM_001244753.2" +HGNC:3621 FCGRT Fc gamma receptor and transporter protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FcgammaRn|FcRn" "heavy chain of the major histocompatibility complex class I-like Fc receptor|transmembrane alpha chain of the neonatal receptor|neonatal Fc receptor|FCRN alpha-chain" "Fc fragment of IgG, receptor, transporter, alpha|Fc fragment of IgG receptor and transporter" C1-set domain containing 591 1995-08-23 2021-11-11 2021-11-11 2217 ENSG00000104870 OTTHUMG00000183155 uc002poe.3 U12255 NM_001136019 CCDS12770 P55899 "7964511|8646894" MGI:103017 RGD:61811 601437 objectId:2985 HGNC:3621 "ENST00000221466.10|NM_001136019.3" +HGNC:29002 FCHO1 FCH and mu domain containing endocytic adaptor 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA0290 FCH domain only 1 F-BAR domain containing 1288 2004-01-08 2019-07-19 2019-07-19 23149 ENSG00000130475 OTTHUMG00000183293 uc060vlv.1 AB006628 NM_015122 "CCDS59365|CCDS59366|CCDS32955" O14526 20448150 MGI:1921265 RGD:1307683 613437 HGNC:29002 "ENST00000596536.6|NM_015122.3" HGNC:29002 +HGNC:25180 FCHO2 FCH and mu domain containing endocytic adaptor 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 FCH domain only 2 F-BAR domain containing 1288 2004-07-16 2019-07-19 2019-07-19 115548 ENSG00000157107 OTTHUMG00000162413 uc003kcl.3 AL831971 NM_138782 "CCDS54868|CCDS47230" Q0JRZ9 15254787 MGI:3505790 RGD:1565396 613438 HGNC:25180 "ENST00000430046.7|NM_138782.3" +HGNC:55232 FCHO2-DT FCHO2 divergent transcript non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 TCONS_00010375 Divergent transcripts 1990 2020-09-16 2020-09-16 118597832 ENSG00000272081 +HGNC:25463 FCHSD1 FCH and double SH3 domains 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 FLJ00007 F-BAR domain containing 1288 2004-04-14 2015-08-25 89848 ENSG00000197948 OTTHUMG00000163762 uc003llk.3 AK027281 NM_033449 CCDS47295 Q86WN1 "11214971|15067381" MGI:2441771 RGD:1308240 617555 HGNC:25463 "ENST00000435817.7|NM_033449.3" +HGNC:29114 FCHSD2 FCH and double SH3 domains 2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 KIAA0769 SH3MD3 SH3 multiple domains 3 F-BAR domain containing 1288 2004-01-08 2004-04-16 2004-04-14 2016-10-05 9873 ENSG00000137478 OTTHUMG00000153082 uc009ytl.4 AB018312 NM_014824 CCDS8218 O94868 "9872452|15067381" MGI:2448475 RGD:1304812 617556 HGNC:29114 "ENST00000409418.9|NM_014824.3" +HGNC:14315 FCMR Fc mu receptor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "TOSO|FcmuR" "IgM Fc receptor|Fc mu R" FAIM3 "Fas apoptotic inhibitory molecule 3|Fc fragment of IgM receptor" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-04-04 2015-04-24 2021-11-02 2021-11-02 9214 ENSG00000162894 OTTHUMG00000036457 AF057557 NM_005449 "CCDS53467|CCDS44304|CCDS1473" O60667 "9586636|1563211|25888699" MGI:1916419 RGD:1359282 606015 objectId:2992 HGNC:14315 "ENST00000367091.8|NM_005449.5" +HGNC:3623 FCN1 ficolin 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FCNM "ficolin (collagen/fibrinogen domain-containing) 1|ficolin (collagen/fibrinogen domain containing) 1" "Fibrinogen C domain containing|Complement system activation components" "554|1638" 1996-07-11 2015-11-27 2016-10-05 2219 ENSG00000085265 OTTHUMG00000020895 uc004cfi.4 D83920 NM_002003 CCDS6985 O00602 "8573080|8884275" MGI:1341158 RGD:621222 601252 HGNC:3623 "ENST00000371806.4|NM_002003.5" +HGNC:3624 FCN2 ficolin 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "P35|FCNL|EBP-37|ficolin-2" "hucolin|collagen/fibrinogen domain-containing protein 2|ficolin B|serum lectin p35|L-ficolin" "ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)|ficolin (collagen/fibrinogen domain containing lectin) 2" "Fibrinogen C domain containing|Complement system activation components" "554|1638" 1996-07-11 2015-11-27 2016-10-05 2220 ENSG00000160339 OTTHUMG00000020892 uc004cfg.1 D49353 NM_004108 CCDS6983 Q15485 8884275 MGI:1341158 601624 HGNC:3624 "ENST00000291744.11|NM_004108.3" +HGNC:3625 FCN3 ficolin 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FCNH|HAKA1" Hakata antigen "ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)|ficolin (collagen/fibrinogen domain containing) 3" "Fibrinogen C domain containing|Complement system activation components" "554|1638" 1999-12-10 2015-11-27 2021-05-26 8547 ENSG00000142748 OTTHUMG00000005722 uc001boa.4 D88587 NM_003665 "CCDS300|CCDS301" O75636 "9694814|10330454" RGD:621221 LRG_171|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_171.xml 604973 332191 HGNC:3625 "ENST00000270879.9|NM_003665.4" HGNC:3625 +HGNC:18509 FCRL1 Fc receptor like 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH1|IRTA5|IFGP1|CD307a" Fc receptor-like 1 "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-03-22 2016-01-21 2016-10-05 115350 ENSG00000163534 OTTHUMG00000019398 uc001frg.4 BC033690 NM_052938 "CCDS1170|CCDS53383|CCDS53382" Q96LA6 "11493702|11929751" MGI:2442862 RGD:1589411 606508 HGNC:18509 "ENST00000368176.8|NM_052938.5" +HGNC:14875 FCRL2 Fc receptor like 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH2|IRTA4|CD307b" SPAP1 "SH2 domain-containing phosphatase anchor protein 1|Fc receptor-like 2" "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2001-04-06 2005-03-23 2016-01-21 2016-01-21 79368 ENSG00000132704 OTTHUMG00000019399 uc001fre.3 AF319438 NM_030764 CCDS1168 Q96LA5 11162587 MGI:1933397 RGD:1306885 606509 HGNC:14875 "ENST00000361516.8|NM_030764.4" +HGNC:18506 FCRL3 Fc receptor like 3 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH3|IRTA3|IFGP3|SPAP2a|SPAP2|SPAP2b|SPAP2c|SPAP2d|SPAP2e|CD307c" Fc receptor-like 3 "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-03-22 2016-01-21 2016-10-05 115352 ENSG00000160856 OTTHUMG00000019400 uc001frb.4 AF459027 NM_052939 "CCDS1167|CCDS81385" Q96P31 "11493702|12014205" 606510 HGNC:18506 "ENST00000368184.8|NM_052939.4" +HGNC:18507 FCRL4 Fc receptor like 4 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH4|IRTA1|IGFP2|CD307d" Fc receptor-like 4 "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-03-22 2016-01-21 2016-10-05 83417 ENSG00000163518 OTTHUMG00000035488 uc001fqw.3 AF343661 NM_031282 CCDS1166 Q96PJ5 "11290337|11493702" FCRL4 605876 HGNC:18507 "ENST00000271532.2|NM_031282.3" +HGNC:18508 FCRL5 Fc receptor like 5 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "FCRH5|IRTA2|BXMAS1|CD307e" Fc receptor-like 5 "CD molecules|Immunoglobulin like domain containing|Fc receptors" "471|594|2120" 2005-03-22 2016-01-21 2016-10-05 83416 ENSG00000143297 OTTHUMG00000017481 uc001fqu.3 AF369794 NM_031281 CCDS1165 Q96RD9 "11027651|11290337" MGI:3053558 RGD:1589379 605877 HGNC:18508 "ENST00000361835.8|NM_031281.3" +HGNC:31910 FCRL6 Fc receptor like 6 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "IFGP6|FLJ16056|FcRH6" Fc receptor-like 6 "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-03-31 2016-01-21 2016-01-21 343413 ENSG00000181036 OTTHUMG00000035351 uc001fud.5 AK131201 NM_001004310 "CCDS30912|CCDS60312" Q6DN72 MGI:3618339 RGD:1563939 613562 HGNC:31910 "ENST00000368106.4|NM_001004310.3" +HGNC:49448 FCRL6P1 Fc receptor like 6 pseudogene 1 pseudogene pseudogene Approved 1q23.2 01q23.2 Fc receptor-like 6 pseudogene 1 2013-12-03 2016-01-21 2016-01-21 100419077 NG_027004 PGOHUM00000244306 HGNC:49448 +HGNC:18504 FCRLA Fc receptor like A protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "MGC4595|FCRLc2|FCRLb|FCRLc1|FCRLd|FCRLe|FCRL|FREB|FCRLX" FCRLM1 "Fc receptor-like and mucin-like 1|Fc receptor-like A" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-05-10 2006-09-26 2016-01-21 2020-05-04 84824 ENSG00000132185 OTTHUMG00000034537 uc001gbd.4 AF531423 NM_032738 "CCDS30926|CCDS53415|CCDS53416|CCDS53417|CCDS53418|CCDS53419|CCDS53420" Q7L513 11754007 MGI:2138647 RGD:1306176 606891 HGNC:18504 "ENST00000236938.12|NM_032738.4" +HGNC:26431 FCRLB Fc receptor like B protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "FLJ31052|FCRL2|FREB-2|FCRLY" FCRLM2 "Fc receptor-like and mucin-like 2|Fc receptor-like B" "Immunoglobulin like domain containing|Fc receptors" "594|2120" 2005-05-10 2006-09-26 2016-01-21 2016-01-21 127943 ENSG00000162746 OTTHUMG00000133629 uc001gbh.4 AY670683 NM_152378 "CCDS30927|CCDS72962|CCDS72963|CCDS72965|CCDS72964" Q6BAA4 15676285 MGI:3576487 RGD:1563018 609251 HGNC:26431 +HGNC:29500 FCSK fucose kinase protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ39408 L-fucose kinase FUK fucokinase 2004-01-30 2019-02-13 2019-02-13 2021-05-26 197258 ENSG00000157353 OTTHUMG00000074085 uc002eyy.4 NM_145059 CCDS10891 Q8N0W3 12056818 MGI:1916071 RGD:1307000 608675 2.7.1.52 HGNC:29500 "ENST00000288078.11|NM_145059.3" +HGNC:19215 FDCSP follicular dendritic cell secreted protein protein-coding gene gene with protein product Approved 4q13.3 04q13.3 FDC-SP C4orf7 chromosome 4 open reading frame 7 2002-09-17 2011-12-12 2011-12-12 2016-10-05 260436 ENSG00000181617 OTTHUMG00000129393 uc003hfd.4 AF435080 NM_152997 CCDS3537 Q8NFU4 "12193705|17548624|20811673" RGD:1359468 607241 HGNC:19215 "ENST00000317987.6|NM_152997.4" +HGNC:3629 FDFT1 farnesyl-diphosphate farnesyltransferase 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 SQS squalene synthase 1993-07-26 2019-09-18 2222 ENSG00000079459 OTTHUMG00000090801 uc033bcg.2 X69141 NM_001287742 "CCDS75696|CCDS87579|CCDS75697|CCDS5985" P37268 MGI:102706 RGD:61834 184420 470324 objectId:645 2.5.1.21 HGNC:3629 "ENST00000220584.9|NM_004462.5" HGNC:3629 +HGNC:3631 FDPS farnesyl diphosphate synthase protein-coding gene gene with protein product Approved 1q22 01q22 farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase 1992-03-13 2010-06-24 2014-11-19 2224 ENSG00000160752 OTTHUMG00000013909 uc001fkc.3 J05262 NM_002004 "CCDS44241|CCDS72940|CCDS1110" P14324 1968462 MGI:104888 RGD:68953 134629 444574 objectId:644 "2.5.1.1|2.5.1.10" HGNC:3631 "ENST00000368356.9|NM_002004.4" HGNC:3631 +HGNC:3632 FDPSP1 farnesyl diphosphate synthase pseudogene 1 pseudogene pseudogene Approved 1q31.1 01q31.1 "CHR39A|FPSL1|FDPSL1" farnesyl diphosphate synthase-like 1 (farnesyl pyrophosphate synthetase-like 1, cholesterol-repressible protein 39A) 1989-09-25 2010-10-12 2010-10-12 2016-10-05 343332 ENSG00000225462 OTTHUMG00000035481 NG_005667 2613235 PGOHUM00000245125 HGNC:3632 +HGNC:3633 FDPSP2 farnesyl diphosphate synthase pseudogene 2 pseudogene pseudogene Approved 7q11.23 07q11.23 TCAG_1641456 "FPSL2|FDPSL2|FDPSL2A" "farnesyl diphosphate synthase-like 2 (farnesyl pyrophosphate synthetase-like 2)|farnesyl diphosphate synthase-like 2A (farnesyl pyrophosphate synthetase-like 2A)" 1989-09-25 2010-10-12 2010-10-12 2014-11-19 619190 ENSG00000233980 OTTHUMG00000155850 NR_003262 2613235 HGNC:3633 +HGNC:3634 FDPSP3 farnesyl diphosphate synthase pseudogene 3 pseudogene pseudogene Approved 14q22.2 14q22.2 "FPSL3|FDPSL3" farnesyl diphosphate synthase-like 3 (farnesyl pyrophosphate synthetase-like 3) 1989-09-25 2010-10-12 2010-10-12 2014-11-19 2227 ENSG00000258872 OTTHUMG00000171028 NG_005795 2613235 PGOHUM00000247804 HGNC:3634 +HGNC:3635 FDPSP4 farnesyl diphosphate synthase pseudogene 4 pseudogene pseudogene Approved 15q15.2 15q15.2 "FPSL4|CHR39B|FDPSL4" "cholesterol-repressible protein 39B|farnesyl diphosphate synthase-like 4 (farnesyl pyrophosphate synthetase-like 4)" 1989-09-25 2010-10-13 2010-10-13 2014-11-19 2228 ENSG00000254793 OTTHUMG00000166826 NG_007445 2613235 PGOHUM00000246763 HGNC:3635 +HGNC:3636 FDPSP5 farnesyl diphosphate synthase pseudogene 5 pseudogene pseudogene Approved Xp11.3 Xp11.3 farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) (FDPS) pseudogene "FPSL5|CHR39C|FDPSL5" "cholesterol-repressible protein 39C|farnesyl diphosphate synthase-like 5 (farnesyl pyrophosphate synthetase-like 5)|farnesyl diphosphate synthase-like 5 (farnesyl pyrophosphate synthetase-like 5) pseudogene" 1989-09-25 2010-10-13 2010-10-13 2016-10-05 2229 ENSG00000215035 OTTHUMG00000021395 NG_007446 2613235 PGOHUM00000241255 HGNC:3636 +HGNC:3637 FDPSP6 farnesyl diphosphate synthase pseudogene 6 pseudogene pseudogene Approved 21q21.1 21q21.1 FDPSP farnesyl diphosphate synthase pseudogene 2000-05-23 2010-10-12 2010-10-12 2014-11-19 54051 ENSG00000233676 OTTHUMG00000078059 NG_000923 PGOHUM00000239153 HGNC:3637 +HGNC:33487 FDPSP7 farnesyl diphosphate synthase pseudogene 7 pseudogene pseudogene Approved 7q11.23 07q11.23 FDPSL2B farnesyl diphosphate synthase-like 2B (farnesyl pyrophosphate synthetase-like 2B) 2007-08-02 2010-10-13 2010-10-13 2010-10-13 441261 ENSG00000231087 OTTHUMG00000155799 NG_009609 PGOHUM00000232893 HGNC:33487 +HGNC:39085 FDPSP8 farnesyl diphosphate synthase pseudogene 8 pseudogene pseudogene Approved 1q32.3 01q32.3 2010-10-13 2010-10-13 401981 ENSG00000224763 OTTHUMG00000037004 NG_008746 PGOHUM00000244411 HGNC:39085 +HGNC:39086 FDPSP9 farnesyl diphosphate synthase pseudogene 9 pseudogene pseudogene Approved 15q25.1 15q25.1 2010-10-13 2010-10-13 401822 NG_008747 PGOHUM00000247198 HGNC:39086 +HGNC:39087 FDPSP10 farnesyl diphosphate synthase pseudogene 10 pseudogene pseudogene Approved 15q15.2 15q15.2 2010-10-13 2011-01-12 100190987 NG_008745 PGOHUM00000246765 HGNC:39087 +HGNC:3638 FDX1 ferredoxin 1 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 ADX adrenodoxin FDX Ferredoxin family 2115 1988-05-11 2021-10-26 2230 ENSG00000137714 OTTHUMG00000166589 uc001pkx.4 M23668 NM_004109 CCDS8344 P10109 "2969697|20547883" MGI:103224 RGD:62036 103260 HGNC:3638 "ENST00000260270.3|NM_004109.5" +HGNC:3640 FDX1P1 ferredoxin 1 pseudogene 1 pseudogene pseudogene Approved 20q11.22 20q11.22 "ADXP1|FDXP1" ferredoxin pseudogene 1 1988-05-11 2009-12-02 2009-12-02 2011-05-19 2231 ENSG00000181741 OTTHUMG00000032297 M34787 NG_001117 "2969697|2340092" PGOHUM00000247519 HGNC:3640 +HGNC:3641 FDX1P2 ferredoxin 1 pseudogene 2 pseudogene pseudogene Approved 21q21.3 21q21.3 FDXP2 ferredoxin pseudogene 2 1991-08-19 2009-12-02 2009-12-02 2011-02-24 2216 ENSG00000227054 OTTHUMG00000078440 M34789 NG_001116 2340092 PGOHUM00000239159 HGNC:3641 +HGNC:30546 FDX2 ferredoxin 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC19604 FDX1L ferredoxin 1-like "Mitochondrial respiratory chain complex assembly factors|Ferredoxin family" "645|2115" 2007-08-15 2016-05-27 2016-05-27 2021-10-26 112812 ENSG00000267673 OTTHUMG00000141299 uc002mny.3 AK097022 NM_001397406 CCDS32905 Q6P4F2 "2340092|24281368|22101253" MGI:1915415 RGD:1561264 614585 470326 HGNC:30546 "ENST00000393708.3|NM_001031734.4" HGNC:30546 +HGNC:25110 FDXACB1 ferredoxin-fold anticodon binding domain containing 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "LOC91893|hCG_2033039" hypothetical protein BC006136 2008-10-15 2011-04-15 91893 ENSG00000255561 OTTHUMG00000166795 uc001pmc.5 NM_138378 CCDS44729 Q9BRP7 MGI:3584513 RGD:1562252 HGNC:25110 "ENST00000260257.9|NM_138378.3" +HGNC:3642 FDXR ferredoxin reductase protein-coding gene gene with protein product Approved 17q25.1 17q25.1 ADR "adrenodoxin-NADP(+) reductase|adrenodoxin reductase" ADXR "Mitochondrial respiratory chain complex assembly factors|Mitochondrial iron-sulfur assembly components" "645|1853" 1988-06-09 2021-05-26 2232 ENSG00000161513 OTTHUMG00000179026 uc002jlx.4 J03826 NM_004110 "CCDS58596|CCDS11707|CCDS58595|CCDS58594|CCDS58591|CCDS58593|CCDS58592" P22570 "2845396|22101253" MGI:104724 RGD:621648 103270 1.18.1.6 HGNC:3642 "ENST00000293195.10|NM_024417.5" HGNC:3642 +HGNC:3647 FECH ferrochelatase protein-coding gene gene with protein product Approved 18q21.31 18q21.31 protoporphyria ferrochelatase (protoporphyria) 1990-05-14 2010-05-11 2021-05-26 2235 ENSG00000066926 OTTHUMG00000132740 uc002lgq.5 D00726 NM_000140 "CCDS32836|CCDS11964" P22830 1838349 MGI:95513 RGD:1307556 LRG_1080|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1080.xml 612386 121784 4.99.1.1 HGNC:3647 "ENST00000262093.11|NM_000140.5" HGNC:3647 +HGNC:3648 FECHP1 ferrochelatase pseudogene 1 pseudogene pseudogene Approved 3p22.3 03p22.3 FECHP ferrochelatase pseudogene 1994-07-04 2010-03-12 2010-03-12 2014-11-19 2236 ENSG00000235534 OTTHUMG00000155765 X69299 NG_001118 8034322 PGOHUM00000237991 HGNC:3648 +HGNC:16934 FEM1A fem-1 homolog A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 fem-1 homolog a (C. elegans) Ankyrin repeat domain containing 403 2002-10-08 2016-03-18 2019-08-29 55527 ENSG00000141965 OTTHUMG00000182048 uc002mbf.4 BC004988 NM_018708 CCDS12135 Q9BSK4 11441184 MGI:1335089 RGD:1561112 613538 HGNC:16934 "ENST00000269856.5|NM_018708.3" +HGNC:17219 FEM1AP1 fem-1 homolog A pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 FEM1DP "fem-1 homolog d (C. elegans) pseudogene|fem-1 homolog a (C. elegans) pseudogene 1" 2003-10-01 2011-03-30 2016-03-18 2016-03-18 441957 ENSG00000229231 OTTHUMG00000074206 NG_021994 PGOHUM00000239133 HGNC:17219 +HGNC:39830 FEM1AP2 fem-1 homolog A pseudogene 2 pseudogene pseudogene Approved 18p11.21 18p11.21 fem-1 homolog a (C. elegans) pseudogene 2 2011-03-30 2016-03-18 2017-10-25 390834 ENSG00000265296 OTTHUMG00000178677 NG_022481 PGOHUM00000294607 HGNC:39830 +HGNC:39831 FEM1AP3 fem-1 homolog A pseudogene 3 pseudogene pseudogene Approved 6q21 06q21 fem-1 homolog a (C. elegans) pseudogene 3 2011-03-30 2016-03-18 2016-03-18 643859 ENSG00000217770 OTTHUMG00000015387 NG_022321 PGOHUM00000243331 HGNC:39831 +HGNC:39832 FEM1AP4 fem-1 homolog A pseudogene 4 pseudogene pseudogene Approved 13q11 13q11 fem-1 homolog a (C. elegans) pseudogene 4 2011-03-30 2016-03-18 2016-03-18 729524 ENSG00000235876 OTTHUMG00000016453 NG_011416 PGOHUM00000248499 HGNC:39832 +HGNC:3649 FEM1B fem-1 homolog B protein-coding gene gene with protein product Approved 15q23 15q23 "FEM-1 (C. elegans) homolog b|fem-1 homolog b (C. elegans)" Ankyrin repeat domain containing 403 1999-05-25 2016-03-18 2016-10-05 10116 ENSG00000169018 OTTHUMG00000133285 uc002arg.4 NM_015322 CCDS10228 Q9UK73 10623617 MGI:1335087 RGD:1304569 613539 HGNC:3649 "ENST00000306917.5|NM_015322.5" +HGNC:16933 FEM1C fem-1 homolog C protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "KIAA1785|EUROIMAGE686608|EUROIMAGE783647|FEM1A" fem-1 homolog c (C. elegans) Ankyrin repeat domain containing 403 2002-10-08 2016-03-18 2016-10-05 56929 ENSG00000145780 OTTHUMG00000128895 uc003krb.2 NM_020177 CCDS4118 Q96JP0 "14527725|11733146" MGI:2444737 RGD:1309322 608767 HGNC:16933 "ENST00000274457.5|NM_020177.3" +HGNC:3650 FEN1 flap structure-specific endonuclease 1 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "FEN-1|MF1" "maturation factor-1|DNase IV" RAD2 1995-02-03 2016-10-05 2237 ENSG00000168496 OTTHUMG00000168162 uc001nsg.4 L37374 NM_004111 CCDS8010 P39748 7774922 MGI:102779 RGD:621821 600393 HGNC:3650 "ENST00000305885.3|NM_004111.6" +HGNC:3651 FEN1P1 flap structure-specific endonuclease 1 pseudogene 1 pseudogene pseudogene Approved 1p22.2 01p22.2 FENL1 flap endonuclease-like 1 1995-04-19 2010-10-13 2010-10-13 2014-11-18 645931 ENSG00000215873 OTTHUMG00000010098 NG_005887 7774922 PGOHUM00000244791 HGNC:3651 +HGNC:43894 FENDRR FOXF1 adjacent non-coding developmental regulatory RNA non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 "lincFOXF1|onco-lncRNA-21" FOXF1-AS1 FOXF1 antisense RNA 1 (head to head) Long non-coding RNAs with non-systematic symbols 1992 2012-04-25 2013-02-07 2013-02-07 2018-07-25 400550 ENSG00000268388 OTTHUMG00000183870 uc021tmg.2 AK091834 NR_033925 "24381249|23369715|19571010|23034409" MGI:1916040 RGD:9685086 614975 FENDRR HGNC:43894 +HGNC:3655 FER FER tyrosine kinase protein-coding gene gene with protein product Approved 5q21.3 05q21.3 "TYK3|PPP1R74" "phosphoprotein NCP94|protein phosphatase 1, regulatory subunit 74" fer (fps/fes related) tyrosine kinase "Protein phosphatase 1 regulatory subunits|SH2 domain containing|F-BAR domain containing |Fes family tyrosine kinases" "694|741|1288|1461" 1990-03-05 2016-01-21 2016-10-05 2241 ENSG00000151422 OTTHUMG00000128751 uc003kop.2 J03358 NM_005246 "CCDS78044|CCDS4098" P16591 2725517 MGI:105917 RGD:1306273 176942 objectId:2022 2.7.10.1 HGNC:3655 "ENST00000281092.9|NM_005246.4" +HGNC:15801 FER1L4 fer-1 like family member 4 (pseudogene) pseudogene pseudogene Approved 20q11.22 20q11.22 "bA563A22B.1|dJ309K20.1" C20orf124 "fer-1-like 4 (C. elegans)|fer-1-like 4 (C. elegans), pseudogene (functional)|fer-1 like family member 4, pseudogene (functional)" Ferlin family 828 2001-09-17 2019-01-21 2019-01-21 80307 ENSG00000088340 OTTHUMG00000032354 AL121586 NR_024377 A9Z1Z3 "24063685|24961353" MGI:1921812 RGD:1308250 HGNC:15801 +HGNC:19044 FER1L5 fer-1 like family member 5 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 DKFZp434I0121 fer-1-like 5 (C. elegans) Ferlin family 828 2005-10-04 2016-01-18 2016-01-18 90342 ENSG00000249715 OTTHUMG00000154929 uc061lwu.1 BC126368 NM_001077400 CCDS77438 A0AVI2 MGI:3616091 RGD:1583681 HGNC:19044 "ENST00000624922.6|NM_001293083.2" +HGNC:28065 FER1L6 fer-1 like family member 6 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 C8ORFK23 fer-1-like 6 (C. elegans) Ferlin family 828 2007-04-24 2016-01-18 2016-01-18 654463 ENSG00000214814 OTTHUMG00000164998 uc003yqw.3 AB196633 NM_001039112 CCDS43767 Q2WGJ9 MGI:3645398 RGD:1564703 HGNC:28065 "ENST00000522917.5|NM_001039112.2" +HGNC:26652 FER1L6-AS1 FER1L6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 FLJ35721 C8orf54 "chromosome 8 open reading frame 54|FER1L6 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-08-16 2011-06-29 2012-08-15 2012-10-12 439941 ENSG00000181171 OTTHUMG00000165001 uc003yqx.1 NR_040044 Q8NA97 FER1L6-AS1 HGNC:26652 +HGNC:26534 FER1L6-AS2 FER1L6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 FLJ32770 C8orf78 "chromosome 8 open reading frame 78|FER1L6 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2006-02-14 2012-04-18 2012-08-15 2012-10-12 157376 ENSG00000253868 OTTHUMG00000165000 uc003yqy.3 AK057332 NR_103547 Q96M78 FER1L6-AS2 HGNC:26534 +HGNC:16660 FERD3L Fer3 like bHLH transcription factor protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "NATO3|N-TWIST|bHLHa31" "Fer3-like (Drosophila)|Fer3-like bHLH transcription factor" Basic helix-loop-helix proteins 420 2002-12-09 2016-07-26 2016-10-05 222894 ENSG00000146618 OTTHUMG00000090823 uc003suo.1 AF369897 NM_152898 CCDS5368 Q96RJ6 "11472856|12217327" MGI:2150010 RGD:1311812 617578 HGNC:16660 "ENST00000275461.3|NM_152898.2" +HGNC:15889 FERMT1 FERM domain containing kindlin 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "FLJ20116|URP1|KIND1|UNC112A" "kindlin-1|kinderlin" C20orf42 "chromosome 20 open reading frame 42|fermitin family homolog 1 (Drosophila)|fermitin family member 1" "Fermitins|Pleckstrin homology domain containing|FERM domain containing" "561|682|1293" 2001-06-21 2007-12-14 2021-02-11 2021-05-26 55612 ENSG00000101311 OTTHUMG00000031826 uc002wmr.3 AK000123 NM_017671 CCDS13098 Q9BQL6 "12697302|12789646" MGI:2443583 RGD:1306816 607900 159172 HGNC:15889 "ENST00000217289.9|NM_017671.5" HGNC:15889 +HGNC:15767 FERMT2 FERM domain containing kindlin 2 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "mig-2|KIND2|UNC112B" "kindlin-2|mitogen inducible gene-2" PLEKHC1 "pleckstrin homology domain containing, family C (with FERM domain) member 1|fermitin family homolog 2 (Drosophila)|fermitin family member 2" "Fermitins|Pleckstrin homology domain containing|FERM domain containing" "561|682|1293" 2003-04-23 2007-12-14 2021-02-11 2021-02-11 10979 ENSG00000073712 OTTHUMG00000140309 uc001xae.4 Z24725 NM_006832 "CCDS9713|CCDS45107|CCDS45108" Q96AC1 "8175911|12697302" MGI:2385001 RGD:1311799 607746 HGNC:15767 "ENST00000341590.8|NM_006832.3" +HGNC:23151 FERMT3 FERM domain containing kindlin 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "URP2|KIND3|MIG2B|MGC10966|UNC112C" "kindlin-3|UNC-112 related protein 2" "fermitin family homolog 3 (Drosophila)|fermitin family member 3" "Fermitins|Pleckstrin homology domain containing|FERM domain containing" "561|682|1293" 2007-12-14 2021-02-11 2021-05-26 83706 ENSG00000149781 OTTHUMG00000167790 uc001nym.3 L25343 NM_031471 "CCDS8060|CCDS8059" Q86UX7 MGI:2147790 RGD:1310168 LRG_180|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_180.xml 607901 178806 HGNC:23151 "ENST00000345728.10|NM_031471.6" HGNC:23151 +HGNC:26443 FERP1 FER tyrosine kinase pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 FERps FERP "fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene|fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene 1" 2005-05-06 2010-03-12 2016-02-12 2016-02-12 553112 ENSG00000232149 OTTHUMG00000022329 AL030996 NG_005390 HGNC:26443 +HGNC:3657 FES FES proto-oncogene, tyrosine kinase protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FPS "Oncogene FES, feline sarcoma virus|c-fes/fps protein" "feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog|feline sarcoma oncogene" "SH2 domain containing|F-BAR domain containing |Fes family tyrosine kinases" "741|1288|1461" 2001-06-22 2014-06-26 2015-09-11 2242 ENSG00000182511 OTTHUMG00000044456 uc002bpv.4 X52192 NM_002005 "CCDS10365|CCDS45349|CCDS45351|CCDS45350" P07332 1870997 MGI:95514 RGD:1564385 FES 190030 objectId:2023 2.7.10.1 HGNC:3657 "ENST00000328850.8|NM_002005.4" +HGNC:3658 FETUB fetuin B protein-coding gene gene with protein product Approved 3q27.3 03q27.3 Cystatins, type 4 968 2000-05-05 2014-11-19 26998 ENSG00000090512 OTTHUMG00000156586 uc010hyq.4 AJ242928 NM_014375 "CCDS3279|CCDS82884|CCDS77871" Q9UGM5 10947975 MGI:1890221 RGD:69293 605954 HGNC:3658 "ENST00000265029.8|NM_014375.3" +HGNC:18562 FEV FEV transcription factor, ETS family member protein-coding gene gene with protein product Approved 2q35 02q35 Pet-1 "FEV (fifth Ewing variant)|FEV (ETS oncogene family)|FEV, ETS transcription factor" ETS transcription factor family 534 2004-03-19 2019-01-25 2019-01-25 54738 ENSG00000163497 OTTHUMG00000133080 uc002vji.1 NM_017521 CCDS2428 Q99581 9121764 MGI:2449712 RGD:628860 FEV 607150 HGNC:18562 "ENST00000295727.2|NM_017521.3" +HGNC:3659 FEZ1 fasciculation and elongation protein zeta 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 UNC-76 zygin I 1999-12-14 2015-11-10 2015-11-10 9638 ENSG00000149557 OTTHUMG00000165886 uc001qbx.4 U60060 NM_005103 "CCDS31716|CCDS44758" Q99689 "9096408|15843383" MGI:2670976 RGD:619708 604825 HGNC:3659 "ENST00000278919.8|NM_005103.5" +HGNC:3660 FEZ2 fasciculation and elongation protein zeta 2 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 zygin II 1999-12-14 2016-01-12 2016-10-05 9637 ENSG00000171055 OTTHUMG00000152148 uc002rpg.3 U60061 NM_001042548 "CCDS46257|CCDS46258" Q9UHY8 9096408 MGI:2675856 RGD:619709 604826 HGNC:3660 "ENST00000405912.8|NM_005102.3" +HGNC:22788 FEZF1 FEZ family zinc finger 1 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 ZNF312B zinc finger protein 312B Zinc fingers C2H2-type 28 2006-08-14 2006-08-15 2006-08-15 2021-05-26 389549 ENSG00000128610 OTTHUMG00000157091 uc003vkd.4 AY726588 NM_001024613 "CCDS34741|CCDS55157" A0PJY2 MGI:1920441 RGD:1560480 613301 410849 HGNC:22788 "ENST00000442488.7|NM_001024613.4" HGNC:22788 +HGNC:41001 FEZF1-AS1 FEZF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.32 07q31.32 FEZF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2018-06-07 154860 ENSG00000230316 OTTHUMG00000157095 uc010lko.2 AK057037 NR_036484 "26848625|28209170|29864963" FEZF1-AS1 HGNC:41001 +HGNC:13506 FEZF2 FEZ family zinc finger 2 protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "FLJ10142|FKSG36|TOF|FEZL|Zfp312" "too few|forebrain embryonic zinc finger-like protein" ZNF312 zinc finger protein 312 Zinc fingers C2H2-type 28 2004-07-15 2006-08-15 2006-08-15 2021-05-26 55079 ENSG00000153266 OTTHUMG00000158705 uc062lcz.1 AF064845 NM_018008 CCDS2897 Q8TBJ5 MGI:1859823 RGD:1311068 607414 HGNC:13506 "ENST00000283268.8|NM_018008.4" +HGNC:4498 FFAR1 free fatty acid receptor 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FFA1R GPR40 G protein-coupled receptor 40 Free fatty acid receptors 203 1997-10-10 2006-02-15 2006-02-15 2016-10-05 2864 ENSG00000126266 OTTHUMG00000188261 uc002nzc.3 AF024687 NM_005303 CCDS12458 O14842 15684720 MGI:2684079 RGD:628613 603820 objectId:225 HGNC:4498 +HGNC:4501 FFAR2 free fatty acid receptor 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FFA2R GPR43 G protein-coupled receptor 43 Free fatty acid receptors 203 1997-10-10 2006-02-15 2006-02-15 2016-10-05 2867 ENSG00000126262 OTTHUMG00000183303 uc010eea.4 AF024690 NM_005306 CCDS12461 O15552 9344866 MGI:2441731 RGD:1359614 603823 objectId:226 HGNC:4501 "ENST00000599180.3|NM_001370087.1" +HGNC:4499 FFAR3 free fatty acid receptor 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FFA3R GPR41 G protein-coupled receptor 41 Free fatty acid receptors 203 1997-10-10 2006-02-15 2006-02-15 2016-10-05 2865 ENSG00000185897 OTTHUMG00000172514 uc002nzd.4 AF024688 NM_005304 CCDS12459 O14843 "9344866|22493486" MGI:2685324 RGD:1311035 603821 objectId:227 HGNC:4499 "ENST00000327809.5|NM_005304.5" +HGNC:19061 FFAR4 free fatty acid receptor 4 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 PGR4 "GPR129|GPR120|O3FAR1" "G protein-coupled receptor 129|G protein-coupled receptor 120|omega-3 fatty acid receptor 1" Free fatty acid receptors 203 2003-08-22 2012-11-16 2012-11-16 2014-11-19 338557 ENSG00000186188 OTTHUMG00000034409 uc010qnu.2 NM_181745 "CCDS55720|CCDS31248" Q5NUL3 "20471368|19723586|15619630|20813258" MGI:2147577 RGD:1308252 609044 objectId:127 HGNC:19061 "ENST00000371481.9|NM_001195755.2" +HGNC:3661 FGA fibrinogen alpha chain protein-coding gene gene with protein product Approved 4q31.3 04q31.3 fibrinogen, A alpha polypeptide "Receptor ligands|Fibrinogen C domain containing" "542|554" 2001-06-22 2021-05-26 2243 ENSG00000171560 OTTHUMG00000150330 uc003iod.2 NM_000508 "CCDS47152|CCDS3787" P02671 MGI:1316726 RGD:2603 LRG_557|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_557.xml 134820 121786 ligandId:6750 HGNC:3661 "ENST00000403106.8|NM_021871.4" HGNC:3661 +HGNC:3662 FGB fibrinogen beta chain protein-coding gene gene with protein product Approved 4q31.3 04q31.3 fibrinogen, B beta polypeptide "Receptor ligands|Fibrinogen C domain containing" "542|554" 2001-06-22 2021-05-26 2244 ENSG00000171564 OTTHUMG00000150331 uc003ioa.5 NM_005141 CCDS3786 P02675 MGI:99501 RGD:2604 LRG_558|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_558.xml 134830 121788 ligandId:6751 HGNC:3662 "ENST00000302068.9|NM_005141.5" HGNC:3662 +HGNC:3663 FGD1 FYVE, RhoGEF and PH domain containing 1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 ZFYVE3 FGDY faciogenital dysplasia (Aarskog-Scott syndrome) "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 1986-01-01 2008-08-01 2021-05-26 2245 ENSG00000102302 OTTHUMG00000021627 uc004dtg.3 U11690 NM_004463 CCDS14359 P98174 MGI:104566 RGD:1565188 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FGD1 300546 121790 HGNC:3663 "ENST00000375135.4|NM_004463.3" HGNC:3663 +HGNC:3664 FGD2 FYVE, RhoGEF and PH domain containing 2 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 ZFYVE4 FGD1 family, member 2 "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 1999-05-17 2004-08-24 2015-09-11 221472 ENSG00000146192 OTTHUMG00000014616 uc010jwp.2 AK097230 NM_173558 CCDS4829 Q7Z6J4 10458911 MGI:1347084 RGD:1309840 605091 HGNC:3664 "ENST00000274963.13|NM_173558.4" +HGNC:16027 FGD3 FYVE, RhoGEF and PH domain containing 3 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "FLJ00004|ZFYVE5" FGD1 family, member 3 "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 2001-07-02 2004-08-24 2016-10-05 89846 ENSG00000127084 OTTHUMG00000021032 uc004asw.3 AK000004 NM_033086 "CCDS43849|CCDS69619" Q5JSP0 11214971 MGI:1353657 RGD:1311725 617554 HGNC:16027 "ENST00000375482.8|NM_001083536.2" +HGNC:19125 FGD4 FYVE, RhoGEF and PH domain containing 4 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "FRABP|frabin|ZFYVE6|CMT4H" FGD1 family, member 4 "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 2003-11-25 2004-08-24 2021-05-26 121512 ENSG00000139132 OTTHUMG00000137374 uc001rkz.5 AK057294 NM_139241 "CCDS81679|CCDS76544|CCDS8727" Q96M96 11527409 MGI:2183747 RGD:708357 LRG_240|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_240.xml 611104 138570 HGNC:19125 "ENST00000534526.7|NM_001370298.3" HGNC:19125 +HGNC:19117 FGD5 FYVE, RhoGEF and PH domain containing 5 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "ZFYVE23|FLJ39957|FLJ00274" "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 2003-11-25 2014-11-19 152273 ENSG00000154783 OTTHUMG00000155556 uc003bzc.4 AK097276 NM_152536 CCDS46767 Q6ZNL6 MGI:2443369 RGD:1305589 614788 HGNC:19117 "ENST00000285046.10|NM_152536.4" +HGNC:40410 FGD5-AS1 FGD5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 FGD5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-10-20 2012-08-15 2019-07-24 100505641 ENSG00000225733 OTTHUMG00000155555 uc062hao.1 BC033386 NR_046251 "31144533|31332696" FGD5-AS1 HGNC:40410 +HGNC:44498 FGD5P1 FYVE, RhoGEF and PH domain containing 5 pseudogene 1 pseudogene pseudogene Approved 3p25.1 03p25.1 2012-11-07 2015-02-03 100132526 ENSG00000275340 OTTHUMG00000160207 NR_036481 PGOHUM00000299356 HGNC:44498 +HGNC:21740 FGD6 FYVE, RhoGEF and PH domain containing 6 protein-coding gene gene with protein product Approved 12q22 12q22 "ZFYVE24|FLJ11183" "Zinc fingers FYVE-type|Pleckstrin homology domain containing|Dbl family Rho GEFs" "81|682|722" 2003-11-25 2016-10-05 55785 ENSG00000180263 OTTHUMG00000170133 uc001tdp.4 AB037783 NM_018351 CCDS31878 Q6ZV73 MGI:1261419 RGD:1565609 613520 HGNC:21740 "ENST00000343958.9|NM_018351.4" +HGNC:3665 FGF1 fibroblast growth factor 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "AFGF|ECGF|ECGFA|ECGFB|HBGF1|ECGF-beta|FGF-alpha|GLIO703" "heparin-binding growth factor 1|endothelial cell growth factor, alpha|endothelial cell growth factor, beta" FGFA fibroblast growth factor 1 (acidic) "Receptor ligands|Fibroblast growth factor family" "542|1895" 1986-01-01 2016-01-21 2016-10-05 2246 ENSG00000113578 OTTHUMG00000059703 uc003lms.5 X59065 NM_000800 "CCDS4275|CCDS4276" P05230 "1697263|3523756" MGI:95515 RGD:2605 131220 ligandId:4923 HGNC:3665 "ENST00000337706.7|NM_000800.5" +HGNC:3676 FGF2 fibroblast growth factor 2 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 FGFB fibroblast growth factor 2 (basic) "Receptor ligands|Fibroblast growth factor family" "542|1895" 1986-01-01 2016-01-21 2021-05-26 2247 ENSG00000138685 OTTHUMG00000039506 uc062zki.1 J04513 NM_002006 CCDS34059 P09038 9925931 MGI:95516 RGD:2609 LRG_1185|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1185.xml 134920 470328 ligandId:4924 HGNC:3676 "ENST00000644866.2|NM_001361665.2" +HGNC:3681 FGF3 fibroblast growth factor 3 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 HBGF-3 "INT-2 proto-oncogene protein|oncogene INT2|V-INT2 murine mammary tumor virus integration site oncogene homolog|murine mammary tumor virus integration site 2, mouse" INT2 fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) "Receptor ligands|Fibroblast growth factor family" "542|1895" 1986-01-01 2010-06-25 2021-05-26 2248 ENSG00000186895 OTTHUMG00000167888 uc001oph.4 NM_005247 CCDS8195 P11487 MGI:95517 RGD:620126 LRG_1303|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1303.xml 164950 159580 ligandId:9629 HGNC:3681 "ENST00000334134.4|NM_005247.4" HGNC:3681 +HGNC:3682 FGF4 fibroblast growth factor 4 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "K-FGF|HBGF-4|HST|HST-1|KFGF" "human stomach cancer, transforming factor from FGF-related oncogene|kaposi sarcoma oncogene|transforming protein KS3" HSTF1 heparin secretory transforming protein 1 "Receptor ligands|Fibroblast growth factor family" "542|1895" 1988-04-20 2008-08-01 2014-11-19 2249 ENSG00000075388 OTTHUMG00000167887 uc001opg.2 M17446 NM_002007 CCDS8194 P08620 1611909 MGI:95518 RGD:620127 164980 470332 ligandId:4925 HGNC:3682 "ENST00000168712.3|NM_002007.4" +HGNC:3683 FGF5 fibroblast growth factor 5 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "Receptor ligands|Fibroblast growth factor family" "542|1895" 1989-06-30 2021-05-26 2250 ENSG00000138675 OTTHUMG00000130288 uc003hmd.4 M23534 NM_001291812 "CCDS34021|CCDS3586" P12034 "3211147|2577873" MGI:95519 RGD:620129 165190 411802 ligandId:4926 HGNC:3683 "ENST00000312465.12|NM_004464.4" HGNC:3683 +HGNC:3684 FGF6 fibroblast growth factor 6 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "Receptor ligands|Fibroblast growth factor family" "542|1895" 1990-02-24 2016-10-05 2251 ENSG00000111241 OTTHUMG00000168242 uc001qmr.2 X63454 NM_020996 CCDS8527 P10767 16597617 MGI:95520 RGD:620130 134921 ligandId:4927 HGNC:3684 "ENST00000228837.3|NM_020996.3" +HGNC:3685 FGF7 fibroblast growth factor 7 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 KGF keratinocyte growth factor fibroblast growth factor 7 (keratinocyte growth factor) "Receptor ligands|Fibroblast growth factor family" "542|1895" 1992-02-20 2010-08-18 2014-11-19 2252 ENSG00000140285 OTTHUMG00000131517 uc059jba.1 M60828 NM_002009 CCDS10131 P21781 "7749227|1409637" MGI:95521 RGD:61805 148180 ligandId:4928 HGNC:3685 "ENST00000267843.9|NM_002009.4" +HGNC:21455 FGF7P1 fibroblast growth factor 7 pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 HsT283 2003-12-17 2016-07-12 387559 ENSG00000264061 OTTHUMG00000178809 NG_006580 PGOHUM00000294612 HGNC:21455 +HGNC:17193 FGF7P2 fibroblast growth factor 7 pseudogene 2 pseudogene pseudogene Approved 21q11.2 21q11.2 FGF7L 2004-01-13 2016-07-12 394217 ENSG00000185390 OTTHUMG00000074196 NG_005961 PGOHUM00000297333 HGNC:17193 +HGNC:26671 FGF7P3 fibroblast growth factor 7 pseudogene 3 pseudogene pseudogene Approved 9p12 09p12 KGFLP2 2016-07-12 2016-07-12 654466 ENSG00000204837 OTTHUMG00000067165 NR_003670 15809711 PGOHUM00000303809 HGNC:26671 +HGNC:33587 FGF7P4 fibroblast growth factor 7 pseudogene 4 pseudogene pseudogene Approved 9p11.1 09p11.1 2016-07-12 2020-04-20 728195 ENSG00000216829 OTTHUMG00000013561 NG_006612 PGOHUM00000303838 HGNC:33587 +HGNC:33588 FGF7P5 fibroblast growth factor 7 pseudogene 5 pseudogene pseudogene Approved 9p11.1 09p11.1 2016-07-12 2016-07-12 653453 ENSG00000204816 OTTHUMG00000013228 NG_006613 PGOHUM00000304221 HGNC:33588 +HGNC:27852 FGF7P6 fibroblast growth factor 7 pseudogene 6 pseudogene pseudogene Approved 9q13 09q13 KGFLP1 2016-07-12 2016-07-12 387628 ENSG00000227449 OTTHUMG00000013302 AY098593 NR_003674 15809711 PGOHUM00000304245 HGNC:27852 +HGNC:33589 FGF7P7 fibroblast growth factor 7 pseudogene 7 pseudogene pseudogene Approved 9q13 09q13 2016-07-12 2016-07-12 728433 ENSG00000204801 OTTHUMG00000058630 NG_006614 PGOHUM00000303860 HGNC:33589 +HGNC:34516 FGF7P8 fibroblast growth factor 7 pseudogene 8 pseudogene pseudogene Approved 9q13 09q13 2016-07-12 2016-07-12 100113421 ENSG00000219693 OTTHUMG00000067257 NG_006615 PGOHUM00000304253 HGNC:34516 +HGNC:3686 FGF8 fibroblast growth factor 8 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 AIGF androgen-induced growth factor fibroblast growth factor 8 (androgen-induced) "Receptor ligands|Fibroblast growth factor family" "542|1895" 1995-08-15 2015-12-04 2021-05-26 2253 ENSG00000107831 OTTHUMG00000018940 uc001ktq.3 D38752 "NM_006119|NM_033165" "CCDS7516|CCDS7518|CCDS73185|CCDS7517|CCDS7515" P55075 8595889 MGI:99604 RGD:70891 600483 173149 ligandId:4929 HGNC:3686 "ENST00000320185.7|NM_033163.5" HGNC:3686 +HGNC:3687 FGF9 fibroblast growth factor 9 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 glia-activating factor fibroblast growth factor 9 (glia-activating factor) "Receptor ligands|Fibroblast growth factor family" "542|1895" 1995-08-15 2013-06-18 2021-05-26 2254 ENSG00000102678 OTTHUMG00000017412 uc001uog.3 D14838 NM_002010 CCDS9298 P31371 8321227 MGI:104723 RGD:2610 600921 201587 ligandId:4930 HGNC:3687 "ENST00000382353.6|NM_002010.3" HGNC:3687 +HGNC:3666 FGF10 fibroblast growth factor 10 protein-coding gene gene with protein product Approved 5p12 05p12 "Receptor ligands|Fibroblast growth factor family" "542|1895" 1996-12-16 2021-05-26 2255 ENSG00000070193 OTTHUMG00000131153 uc003jog.2 NM_004465 CCDS3950 O15520 9287324 MGI:1099809 RGD:2606 602115 121794 ligandId:9641 HGNC:3666 "ENST00000264664.5|NM_004465.2" HGNC:3666 +HGNC:49382 FGF10-AS1 FGF10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p12 05p12 RP11-473L15.2 Antisense RNAs 1987 2013-10-22 2013-10-23 101927075 ENSG00000248464 OTTHUMG00000162233 BC042062 NR_108034 24147006 FGF10-AS1 HGNC:49382 +HGNC:3667 FGF11 fibroblast growth factor 11 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FHF3|FLJ16061|MGC45269|MGC102953" fibroblast growth factor homologous factor 3 Fibroblast growth factor family 1895 1996-10-26 2014-11-18 2256 ENSG00000161958 OTTHUMG00000108136 uc002ggz.4 NM_004112 CCDS11105 Q92914 8790420 MGI:109167 RGD:620162 601514 HGNC:3667 "ENST00000293829.9|NM_004112.4" +HGNC:3668 FGF12 fibroblast growth factor 12 protein-coding gene gene with protein product Approved 3q28-q29 03q28-q29 FHF1 "fibroblast growth factor 12B|fibroblast growth factor homologous factor 1|myocyte-activating factor|fibroblast growth factor FGF-12b" FGF12B Fibroblast growth factor family 1895 1996-10-26 2021-05-26 2257 ENSG00000114279 OTTHUMG00000156132 uc003fsx.4 U66197 NM_021032 "CCDS3301|CCDS46983" P61328 "8790420|9345906" MGI:109183 RGD:620163 601513 466400 HGNC:3668 "ENST00000445105.7|NM_004113.6" HGNC:3668 +HGNC:40234 FGF12-AS1 FGF12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 FGF12 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873986 ENSG00000231383 OTTHUMG00000156141 uc062rll.1 NR_046596 FGF12-AS1 HGNC:40234 +HGNC:40235 FGF12-AS2 FGF12 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q28 03q28 FGF12 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-07-23 100873987 ENSG00000230126 OTTHUMG00000156143 uc062rlm.1 NR_046598 HGNC:40235 +HGNC:40236 FGF12-AS3 FGF12 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3q28 03q28 FGF12 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873988 ENSG00000226709 OTTHUMG00000156142 uc062rln.1 HGNC:40236 +HGNC:3670 FGF13 fibroblast growth factor 13 protein-coding gene gene with protein product Approved Xq26.3-q27.1 Xq26.3-q27.1 "FHF2|FGF2|FLJ30672" fibroblast growth factor homologous factor 2 LINC00889 long intergenic non-protein coding RNA 889 "MicroRNA protein coding host genes|Fibroblast growth factor family" "1691|1895" 1996-12-16 2020-01-22 2258 ENSG00000129682 OTTHUMG00000022532 uc004fal.4 BC034340 NM_004114 "CCDS14664|CCDS55513|CCDS14665|CCDS55512|CCDS55511" Q92913 8790420 MGI:109178 RGD:620164 300070 470330 HGNC:3670 "ENST00000315930.11|NM_004114.5" HGNC:3670 +HGNC:44264 FGF13-AS1 FGF13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 FGF13 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-01 2012-08-15 2012-10-12 100129662 ENSG00000226031 OTTHUMG00000137416 uc065bjd.1 BC023610 NR_038405 FGF13-AS1 HGNC:44264 +HGNC:3671 FGF14 fibroblast growth factor 14 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 "FHF4|SCA27" "MicroRNA protein coding host genes|Fibroblast growth factor family" "1691|1895" 1996-12-18 2021-05-26 2259 ENSG00000102466 OTTHUMG00000017303 uc001vpe.3 NM_001321931 "CCDS9500|CCDS9501" Q92915 "8790420|17236779" MGI:109189 RGD:620165 601515 121796 HGNC:3671 "ENST00000376143.5|NM_004115.4" HGNC:3671 +HGNC:40237 FGF14-AS1 FGF14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q33.1 13q33.1 FGF14 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874081 ENSG00000234445 OTTHUMG00000017302 uc058ybu.1 AI217925 NR_125912 FGF14-AS1 HGNC:40237 +HGNC:44368 FGF14-AS2 FGF14 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q33.1 13q33.1 Antisense RNAs 1987 2012-09-12 2016-12-01 283481 ENSG00000272143 OTTHUMG00000185723 uc058ybv.1 "BC033993|BM674599|BX096285" NR_036487 26820525 FGF14-AS2 HGNC:44368 +HGNC:42774 FGF14-IT1 FGF14 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q33.1 13q33.1 FGF14 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-08-18 2015-02-25 2015-02-25 283480 ENSG00000243319 OTTHUMG00000017301 uc001vph.3 NR_036486 FGF14-IT1 HGNC:42774 +HGNC:3672 FGF16 fibroblast growth factor 16 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 MF4 metacarpal 4-5 fusion Fibroblast growth factor family 1895 1998-12-22 2021-05-26 8823 ENSG00000196468 OTTHUMG00000013133 uc033ejs.2 AB009391 NM_003868 CCDS75996 O43320 "9473496|11474196|23709756" MGI:1931627 RGD:71052 300827 364799 HGNC:3672 "ENST00000439435.3|NM_003868.3" HGNC:3672 +HGNC:3673 FGF17 fibroblast growth factor 17 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 FGF-13 Fibroblast growth factor family 1895 1998-12-22 2014-11-19 8822 ENSG00000158815 OTTHUMG00000097051 uc003xag.4 AB009249 NM_003867 "CCDS78310|CCDS6019" O60258 "9514906|9751161" MGI:1202401 RGD:2607 603725 353741 HGNC:3673 "ENST00000359441.4|NM_003867.4" HGNC:3673 +HGNC:3674 FGF18 fibroblast growth factor 18 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "FGF-18|ZFGF5" Fibroblast growth factor family 1895 1998-12-22 2016-10-05 8817 ENSG00000156427 OTTHUMG00000130464 uc003mbk.4 AB007422 "NM_033649|NM_003862" CCDS4378 O76093 "9660775|9742123" MGI:1277980 RGD:2608 603726 ligandId:10974 HGNC:3674 "ENST00000274625.6|NM_003862.3" +HGNC:3675 FGF19 fibroblast growth factor 19 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 Fibroblast growth factor family 1895 1999-05-06 2016-10-05 9965 ENSG00000162344 OTTHUMG00000167886 uc001opf.4 AB018122 NM_005117 CCDS8193 O95750 "9931477|10525310" MGI:1096383 RGD:620166 603891 ligandId:11545 HGNC:3675 "ENST00000294312.4|NM_005117.3" +HGNC:3677 FGF20 fibroblast growth factor 20 protein-coding gene gene with protein product Approved 8p22 08p22 Fibroblast growth factor family 1895 1999-11-19 2015-09-07 26281 ENSG00000078579 OTTHUMG00000096964 uc003wxc.2 AB030648 NM_019851 CCDS5998 Q9NP95 10913340 MGI:1891346 RGD:71068 605558 401132 HGNC:3677 "ENST00000180166.6|NM_019851.3" HGNC:3677 +HGNC:3678 FGF21 fibroblast growth factor 21 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Fibroblast growth factor family 1895 1999-11-26 2014-11-18 26291 ENSG00000105550 OTTHUMG00000183326 uc002pkn.2 AB021975 NM_019113 CCDS12734 Q9NSA1 10858549 MGI:1861377 RGD:620175 609436 ligandId:11721 HGNC:3678 "ENST00000593756.6|NM_019113.4" +HGNC:3679 FGF22 fibroblast growth factor 22 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Fibroblast growth factor family 1895 1999-12-20 2015-08-25 27006 ENSG00000070388 OTTHUMG00000180591 uc010xfq.4 NM_001300812 "CCDS12037|CCDS74241" Q9HCT0 "15260994|16597617" MGI:1914362 RGD:620177 605831 HGNC:3679 +HGNC:3680 FGF23 fibroblast growth factor 23 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "Receptor ligands|Fibroblast growth factor family" "542|1895" 2000-05-16 2021-05-26 8074 ENSG00000118972 OTTHUMG00000168241 uc001qmq.1 AF263537 NM_020638 CCDS8526 Q9GZV9 "11032749|18310961" MGI:1891427 RGD:620178 605380 121800 ligandId:9291 HGNC:3680 "ENST00000237837.2|NM_020638.3" HGNC:3680 +HGNC:19695 FGFBP1 fibroblast growth factor binding protein 1 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "HBP17|FGFBP" 2004-06-23 2014-11-19 9982 ENSG00000137440 OTTHUMG00000097745 uc003gom.4 M60047 NM_005130 CCDS3418 Q14512 "11148217|1885605" MGI:1096350 RGD:621211 607737 HGNC:19695 "ENST00000382333.2|NM_005130.5" +HGNC:29451 FGFBP2 fibroblast growth factor binding protein 2 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 KSP37 killer-specific secretory protein of 37 kDa 2006-12-14 2014-11-19 83888 ENSG00000137441 OTTHUMG00000128513 uc003gon.4 AB021123 NM_031950 CCDS3419 Q9BYJ0 "11342666|12322897" 607713 HGNC:29451 "ENST00000259989.7|NM_031950.4" +HGNC:23428 FGFBP3 fibroblast growth factor binding protein 3 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 MGC39320 C10orf13 chromosome 10 open reading frame 13 2003-11-18 2006-12-14 2006-12-14 2016-10-05 143282 ENSG00000174721 OTTHUMG00000018751 uc001khq.5 AK075410 NM_152429 CCDS7418 Q8TAT2 MGI:1919764 RGD:1560326 HGNC:23428 "ENST00000311575.6|NM_152429.5" +HGNC:3688 FGFR1 fibroblast growth factor receptor 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "H2|H3|H4|H5|CEK|FLG|BFGFR|N-SAM|CD331" Pfeiffer syndrome "FLT2|KAL2" fms-related tyrosine kinase 2 "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1992-02-25 2008-08-01 2021-05-26 2260 ENSG00000077782 OTTHUMG00000147366 uc064mbw.1 M34185 NM_001174063 "CCDS43731|CCDS43732|CCDS43730|CCDS55221|CCDS55222|CCDS55223|CCDS6107" P11362 2162671 MGI:95522 RGD:620713 LRG_993|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_993.xml FGFR1 136350 121802 objectId:1808 CD331 2.7.10.1 HGNC:3688 "ENST00000447712.7|NM_023110.3" HGNC:3688 +HGNC:23098 FGFR1OP2 FGFR1 oncogene partner 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 DKFZp564O1863 STRIPAK complex 1371 2003-09-11 2020-01-20 26127 ENSG00000111790 OTTHUMG00000169231 uc001rhn.4 AF161472 NM_015633 "CCDS53766|CCDS53767|CCDS8709" Q9NVK5 15034873 MGI:1914779 RGD:1303233 608858 HGNC:23098 "ENST00000229395.8|NM_015633.3" +HGNC:39706 FGFR1OP2P1 FGFR1 oncogene partner 2 pseudogene 1 pseudogene pseudogene Approved 13q12.13 13q12.13 2011-03-23 2011-03-23 100873883 ENSG00000230256 OTTHUMG00000016622 NG_032350 PGOHUM00000248548 HGNC:39706 +HGNC:3689 FGFR2 fibroblast growth factor receptor 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "CEK3|TK14|TK25|ECT1|K-SAM|CD332" "Crouzon syndrome|Pfeiffer syndrome" "KGFR|BEK|CFD1|JWS" "bacteria-expressed kinase|keratinocyte growth factor receptor|craniofacial dysostosis 1|Jackson-Weiss syndrome" "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1991-05-09 2008-08-01 2021-05-26 2263 ENSG00000066468 OTTHUMG00000019175 uc057wle.1 AK026508 "NM_022976|NM_000141" "CCDS73210|CCDS44485|CCDS53584|CCDS44489|CCDS44488|CCDS44487|CCDS44486|CCDS81515|CCDS81514|CCDS7620|CCDS31298" P21802 MGI:95523 RGD:2611 LRG_994|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_994.xml FGFR2 176943 132262 objectId:1809 CD332 HGNC:3689 "ENST00000358487.10|NM_000141.5" HGNC:3689 +HGNC:3690 FGFR3 fibroblast growth factor receptor 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "CEK2|JTK4|CD333" ACH achondroplasia, thanatophoric dwarfism "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1991-06-07 2008-08-01 2021-05-26 2261 ENSG00000068078 OTTHUMG00000121148 uc003gdr.3 M64347 NM_000142 "CCDS87200|CCDS54706|CCDS3353|CCDS3354" P22607 1847508 MGI:95524 RGD:620714 LRG_1021|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1021.xml FGFR3 134934 121815 objectId:1810 CD333 HGNC:3690 "ENST00000440486.8|NM_000142.5" HGNC:3690 +HGNC:21664 FGFR3P1 fibroblast growth factor receptor 3 pseudogene 1 pseudogene pseudogene Approved 6p21.33 06p21.33 D84394.2 "FGFR3P|FGFR6" "fibroblast growth factor receptor 3 pseudogene|fibroblast growth factor receptor 6" 2003-11-26 2010-03-12 2010-03-12 2014-11-19 100462812 ENSG00000230994 OTTHUMG00000031234 NG_025930 PGOHUM00000243582 HGNC:21664 +HGNC:37947 FGFR3P2 fibroblast growth factor receptor 3 pseudogene 2 pseudogene pseudogene Approved 11q21 11q21 2010-03-12 2014-11-19 100462815 NG_021799 PGOHUM00000242432 HGNC:37947 +HGNC:37948 FGFR3P3 fibroblast growth factor receptor 3 pseudogene 3 pseudogene pseudogene Approved 20p12.3 20p12.3 2010-03-12 2014-11-19 100462816 NG_021985 PGOHUM00000247587 HGNC:37948 +HGNC:37949 FGFR3P4 fibroblast growth factor receptor 3 pseudogene 4 pseudogene pseudogene Approved 3q26.32 03q26.32 2010-03-12 2014-11-19 100420833 NG_022229 PGOHUM00000237874 HGNC:37949 +HGNC:37950 FGFR3P5 fibroblast growth factor receptor 3 pseudogene 5 pseudogene pseudogene Approved 16p11.2 16p11.2 2010-03-12 2014-11-19 100420952 ENSG00000260984 OTTHUMG00000176658 NG_022502 PGOHUM00000248856 HGNC:37950 +HGNC:37951 FGFR3P6 fibroblast growth factor receptor 3 pseudogene 6 pseudogene pseudogene Approved 1q44 01q44 2010-03-12 2014-11-19 100420881 ENSG00000226164 OTTHUMG00000041166 NG_022833 PGOHUM00000245293 HGNC:37951 +HGNC:3691 FGFR4 fibroblast growth factor receptor 4 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "JTK2|CD334" "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1991-07-25 2015-08-25 2264 ENSG00000160867 OTTHUMG00000151523 uc003mfm.4 AF202063 NM_001291980 "CCDS4410|CCDS78096|CCDS4411" P22455 MGI:95525 RGD:2612 FGFR4 134935 470334 objectId:1811 CD334 HGNC:3691 "ENST00000292408.9|NM_213647.3" +HGNC:3693 FGFRL1 fibroblast growth factor receptor like 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 2000-05-23 2017-06-13 2017-06-13 53834 ENSG00000127418 OTTHUMG00000118998 uc062uil.1 NM_021923 CCDS3344 Q8N441 21080029 MGI:2150920 RGD:735156 605830 HGNC:3693 "ENST00000510644.6|NM_001004356.3" +HGNC:3694 FGG fibrinogen gamma chain protein-coding gene gene with protein product Approved 4q32.1 04q32.1 fibrinogen, gamma polypeptide "Receptor ligands|Fibrinogen C domain containing" "542|554" 2001-06-22 2021-05-26 2266 ENSG00000171557 OTTHUMG00000150329 uc003iog.4 NM_021870 "CCDS47153|CCDS3788" P02679 MGI:95526 RGD:2613 "LOVD EAHAD Coagulation Factor Variant Database|https://databases.lovd.nl/shared/genes/FGG|LRG_585|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_585.xml" 134850 121821 ligandId:6752 HGNC:3694 "ENST00000336098.8|NM_021870.3" HGNC:3694 +HGNC:25610 FGGY FGGY carbohydrate kinase domain containing protein-coding gene gene with protein product Approved 1p32.1 01p32.1 FLJ10986 2008-02-28 2015-09-11 55277 ENSG00000172456 OTTHUMG00000008424 uc001czi.6 NM_001113411 "CCDS44155|CCDS58003|CCDS60155|CCDS611" Q96C11 17671248 MGI:1922828 RGD:1359429 611370 HGNC:25610 "ENST00000303721.12|NM_018291.5" +HGNC:55265 FGGY-DT FGGY divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.1 01p32.1 Divergent transcripts 1990 2020-09-29 2020-09-29 105378756 ENSG00000224609 XR_001738082 +HGNC:3695 FGL1 fibrinogen like 1 protein-coding gene gene with protein product Approved 8p22 08p22 "HFREP-1|HPS" hepassocin Fibrinogen C domain containing 554 1995-05-25 2015-11-09 2020-06-23 2267 ENSG00000104760 OTTHUMG00000096989 uc003wye.4 D14446 NM_004467 CCDS6004 Q08830 8390249 MGI:102795 RGD:620169 605776 HGNC:3695 "ENST00000427924.5|NM_004467.4" +HGNC:3696 FGL2 fibrinogen like 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "pT49|T49" fibroleukin fibrinogen-like 2 Fibrinogen C domain containing 554 1999-09-07 2016-02-03 2020-03-10 10875 ENSG00000127951 OTTHUMG00000130681 uc003ugb.4 Z36531 NM_006682 CCDS5591 Q14314 7642106 MGI:103266 RGD:620170 605351 HGNC:3696 "ENST00000248598.6|NM_006682.3" +HGNC:3697 FGR FGR proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "c-fgr|p55c-fgr" SRC2 "Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog|v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog|feline Gardner-Rasheed sarcoma viral oncogene homolog" "SH2 domain containing|Src family tyrosine kinases" "741|1388" 2001-06-22 2014-06-25 2016-10-05 2268 ENSG00000000938 OTTHUMG00000003516 uc001bom.4 BC064382 NM_005248 CCDS305 P09769 3922831 MGI:95527 RGD:621319 164940 objectId:2024 HGNC:3697 "ENST00000374005.8|NM_005248.3" +HGNC:3700 FH fumarate hydratase protein-coding gene gene with protein product Approved 1q43 01q43 fumarase 2001-06-22 2021-04-13 2271 ENSG00000091483 OTTHUMG00000039597 uc001hyx.4 BC003108 NM_000143 CCDS1617 P07954 MGI:95530 RGD:2614 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FH|LRG_504|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_504.xml" FH 136850 121823 4.2.1.2 HGNC:3700 "ENST00000366560.4|NM_000143.4" HGNC:3700 +HGNC:29408 FHAD1 forkhead associated phosphopeptide binding domain 1 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 KIAA1937 forkhead-associated (FHA) phosphopeptide binding domain 1 2005-07-19 2016-06-21 2016-06-21 114827 ENSG00000142621 OTTHUMG00000002088 uc001awb.2 AK093300 NM_052929 B1AJZ9 11572484 MGI:1920323 RGD:1563444 HGNC:29408 "ENST00000688493.1|NM_001391957.1" +HGNC:41241 FHAD1-AS1 FHAD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 Antisense RNAs 1987 2019-07-26 2019-07-26 101927417 ENSG00000233485 OTTHUMG00000002089 NR_148918 HGNC:41241 +HGNC:29363 FHDC1 FH2 domain containing 1 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "KIAA1727|INF1" Inverted Formin-1 Formins 2006 2007-11-29 2007-11-29 2020-01-23 85462 ENSG00000137460 OTTHUMG00000161452 uc063ahi.1 AB051514 NM_033393 CCDS34081 Q9C0D6 15138637 MGI:2684972 RGD:1311955 HGNC:29363 "ENST00000511601.6|NM_001371116.1" +HGNC:34237 FHIP1A FHF complex subunit HOOK interacting protein 1A protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "FLJ43373|FHIP-L" FAM160A1 family with sequence similarity 160 member A1 FHF complex 2012 2008-06-05 2021-01-21 2021-01-21 2021-01-21 729830 ENSG00000164142 OTTHUMG00000161675 uc003imj.2 NM_001109977 CCDS47146 Q05DH4 "29930801|32073997" MGI:2444746 RGD:1565007 HGNC:34237 "ENST00000435205.6|NM_001109977.3" +HGNC:53123 FHIP1A-DT FHIP1A divergent transcript non-coding RNA RNA, long non-coding Approved 4q31.3 04q31.3 RP11-610P16.1 FAM160A1-DT FAM160A1 divergent transcript Divergent transcripts 1990 2017-08-03 2021-01-21 2021-01-21 2021-01-21 105377486 ENSG00000251611 OTTHUMG00000161670 XR_001741443 28187432 HGNC:53123 +HGNC:25378 FHIP1B FHF complex subunit HOOK interacting protein 1B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FLJ22665|KIAA1759|DKFZP566M1046|FHIP" FTS and Hook interacting protein "C11orf56|FAM160A2" "chromosome 11 open reading frame 56|family with sequence similarity 160 member A2" FHF complex 2012 2006-02-17 2021-01-21 2021-01-21 2021-01-21 84067 ENSG00000051009 OTTHUMG00000133379 uc001mck.5 NM_032127 "CCDS44530|CCDS7760" Q8N612 "11230166|11214970|18799622" MGI:1921599 RGD:1359585 HGNC:25378 "ENST00000449352.7|NM_001098794.2" +HGNC:29320 FHIP2A FHF complex subunit HOOK interacting protein 2A protein-coding gene gene with protein product Approved 10q25.3 10q25.3 bA106M7.3 "KIAA1600|FAM160B1" "KIAA1600|family with sequence similarity 160 member B1" "Armadillo like helical domain containing|FHF complex" "1492|2012" 2004-02-18 2021-01-21 2021-01-21 2021-01-21 57700 ENSG00000151553 OTTHUMG00000019092 uc001lcb.4 AB046820 NM_020940 "CCDS44480|CCDS31290" Q5W0V3 "10997877|31353455" MGI:2147545 RGD:1306116 617312 HGNC:29320 "ENST00000369248.9|NM_020940.4" +HGNC:16492 FHIP2B FHF complex subunit HOOK interacting protein 2B protein-coding gene gene with protein product Approved 8p21.3 08p21.3 FLJ21801 "RAI16|FAM160B2" "retinoic acid induced 16|family with sequence similarity 160 member B2" "Armadillo like helical domain containing|FHF complex" "1492|2012" 2001-12-07 2021-01-21 2021-01-21 2021-01-21 64760 ENSG00000158863 OTTHUMG00000097088 uc011kyx.3 AK025454 NM_001354250 CCDS6021 Q86V87 "22971576|15626329" MGI:3036290 RGD:1308870 HGNC:16492 "ENST00000289921.8|NM_022749.7" +HGNC:3701 FHIT fragile histidine triad diadenosine triphosphatase protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "FRA3B|AP3Aase" bis(5'-adenosyl)-triphosphatase "fragile histidine triad gene|fragile histidine triad" "MicroRNA protein coding host genes|Histidine triad superfamily" "1691|1811" 1996-10-18 2019-04-25 2019-04-25 2272 ENSG00000189283 OTTHUMG00000158591 uc003dkx.5 BC032336 NM_002012 CCDS2894 P49789 "8598045|9671749|26181368" MGI:1277947 RGD:620448 FHIT 601153 121826 "3.6.1.29|3.6.2.1|3.9.1.-" HGNC:3701 "ENST00000492590.6|NM_002012.4" +HGNC:3702 FHL1 four and a half LIM domains 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "SLIM1|KYO-T|bA535K18.1|FHL1B|XMPMA|FLH1A|MGC111107" "Four-and-a-half LIM domains 1|LIM protein SLIMMER" LIM domain containing 1218 1997-08-28 2021-04-13 2273 ENSG00000022267 OTTHUMG00000022504 uc004ezp.3 U60115 NM_001449 "CCDS76036|CCDS55507|CCDS55506|CCDS55505|CCDS14655|CCDS83493" Q13642 "8753811|9714789" MGI:1298387 RGD:2615 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=FHL1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FHL1|LRG_739|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_739.xml" 300163 140044 HGNC:3702 "ENST00000370683.6|NM_001159699.2" HGNC:3702 +HGNC:3703 FHL2 four and a half LIM domains 2 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 "SLIM3|DRAL" LIM domain containing 1218 1997-08-28 2021-04-13 2274 ENSG00000115641 OTTHUMG00000153120 uc002tdd.4 NM_001039492 CCDS2070 Q14192 8753811 MGI:1338762 RGD:61963 LRG_740|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_740.xml 602633 159586 HGNC:3703 "ENST00000530340.6|NM_001318895.3" HGNC:3703 +HGNC:3704 FHL3 four and a half LIM domains 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 SLIM2 LIM domain containing 1218 1997-08-28 2014-11-19 2275 ENSG00000183386 OTTHUMG00000004434 uc001cck.4 BC011697 NM_004468 CCDS30678 Q13643 "8753811|10226657" MGI:1341092 RGD:1307180 602790 HGNC:3704 "ENST00000373016.4|NM_004468.5" +HGNC:17371 FHL5 four and a half LIM domains 5 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "FLJ33049|ACT|dJ393D12.2" LIM domain containing 1218 2003-11-26 2016-10-05 9457 ENSG00000112214 OTTHUMG00000015239 uc003pot.2 AF278541 NM_020482 CCDS5035 Q5TD97 MGI:1913192 RGD:1307056 605126 HGNC:17371 "ENST00000450218.6|NM_001322466.2" +HGNC:17905 FHOD1 formin homology 2 domain containing 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FHOS "Armadillo like helical domain containing|Formins" "1492|2006" 2002-02-19 2016-10-05 29109 ENSG00000135723 OTTHUMG00000137521 uc002esl.4 AF113615 NM_001318202 CCDS10834 Q9Y613 "10352228|16112087" MGI:2679008 RGD:1589776 606881 HGNC:17905 "ENST00000258201.9|NM_013241.3" +HGNC:26178 FHOD3 formin homology 2 domain containing 3 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "FHOS2|KIAA1695|FLJ22297|FLJ22717" "Armadillo like helical domain containing|Formins" "1492|2006" 2004-02-04 2018-11-15 80206 ENSG00000134775 OTTHUMG00000182381 uc002kzs.3 AK091899 NM_025135 "CCDS32816|CCDS62418|CCDS62419" Q2V2M9 11214970 MGI:1925847 RGD:2322319 609691 HGNC:26178 "ENST00000590592.6|NM_001281740.3" HGNC:26178 +HGNC:39442 FHP1 fumarate hydratase pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-01-11 2011-01-11 100873790 ENSG00000234213 OTTHUMG00000016802 NG_032302 PGOHUM00000248575 HGNC:39442 +HGNC:25922 FIBCD1 fibrinogen C domain containing 1 protein-coding gene gene with protein product Approved 9q34.12 09q34.12 FLJ14810 Fibrinogen C domain containing 554 2004-01-06 2016-10-05 84929 ENSG00000130720 OTTHUMG00000020814 uc011mcc.2 AK027716 NM_032843 CCDS6937 Q8N539 12975309 MGI:2138953 RGD:1309097 613357 HGNC:25922 "ENST00000372338.9|NM_032843.5" +HGNC:55657 FIBCD1-AS1 FIBCD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.12 09q34.12 Antisense RNAs 1987 2021-06-30 2021-06-30 105376297 ENSG00000236658 XR_930398 +HGNC:33747 FIBIN fin bud initiation factor homolog protein-coding gene gene with protein product Approved 11p14.2 11p14.2 MGC24932 fin bud initiation factor homolog (zebrafish) 2008-12-03 2018-07-09 2018-07-09 387758 ENSG00000176971 OTTHUMG00000166120 uc001mrd.4 BC026873 NM_203371 CCDS7861 Q8TAL6 17196583 MGI:1914856 RGD:1563711 617085 HGNC:33747 "ENST00000318627.4|NM_203371.2" +HGNC:3705 FIBP FGF1 intracellular binding protein protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FGFIBP fibroblast growth factor (acidic) intracellular binding protein 1999-06-07 2016-04-29 2016-04-29 9158 ENSG00000172500 OTTHUMG00000166846 uc001oge.4 AF010187 NM_198897 "CCDS8118|CCDS8119" O43427 "9806903|25096995" MGI:1926233 RGD:628715 608296 HGNC:3705 "ENST00000357519.9|NM_004214.5" HGNC:3705 +HGNC:18416 FICD FIC domain protein adenylyltransferase protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "HYPE|HIP13" "huntingtin interacting protein 13|fic S-phase protein cell division homolog (E. coli)" FIC domain containing 2007-12-04 2020-01-09 2020-01-09 11153 ENSG00000198855 OTTHUMG00000169569 uc001tmx.2 AF049611 NM_007076 CCDS9116 Q9BVA6 9700202 MGI:1098550 RGD:1359391 HGNC:18416 "ENST00000552695.6|NM_007076.3" +HGNC:16873 FIG4 FIG4 phosphoinositide 5-phosphatase protein-coding gene gene with protein product Approved 6q21 06q21 "SAC3|hSac3|dJ249I4.1|ALS11|CMT4J" KIAA0274 "KIAA0274|FIG4 homolog (S. cerevisiae)|FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)" Phosphoinositide phosphatases 1079 2003-11-26 2007-07-30 2014-08-04 2021-05-26 9896 ENSG00000112367 OTTHUMG00000015352 uc003ptt.3 D87464 NM_014845 CCDS5078 Q92562 "9039502|11274189|17572665" MGI:2143585 RGD:1311375 LRG_241|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_241.xml 609390 159207 HGNC:16873 "ENST00000230124.8|NM_014845.6" HGNC:16873 +HGNC:24669 FIGLA folliculogenesis specific bHLH transcription factor protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "bHLHc8|Figalpha" factor in the germline alpha folliculogenesis specific basic helix-loop-helix Basic helix-loop-helix proteins 420 2006-05-18 2015-06-16 2021-05-26 344018 ENSG00000183733 OTTHUMG00000153440 uc002she.1 BC039536 NM_001004311 CCDS46320 Q6QHK4 12468641 MGI:1349421 RGD:1564754 608697 292019 HGNC:24669 "ENST00000332372.6|NM_001004311.3" HGNC:24669 +HGNC:13285 FIGN fidgetin, microtubule severing factor protein-coding gene gene with protein product Approved 2q24.3 02q24.3 fidgetin AAA ATPases 413 2000-11-28 2016-05-27 2016-10-05 55137 ENSG00000182263 OTTHUMG00000074059 uc002uck.2 AK001267 NM_018086 CCDS2221 Q5HY92 11017077 MGI:1890647 RGD:1308174 605295 470336 HGNC:13285 "ENST00000333129.4|NM_018086.4" +HGNC:13286 FIGNL1 fidgetin like 1 protein-coding gene gene with protein product Approved 7p12.2 07p12.2 fidgetin-like 1 AAA ATPases 413 2000-11-28 2016-02-03 2016-02-03 63979 ENSG00000132436 OTTHUMG00000022866 uc064dpv.1 AK023142 NM_001042762 CCDS5510 Q6PIW4 MGI:1890648 RGD:1307112 615383 HGNC:13286 "ENST00000433017.6|NM_001287492.4" +HGNC:13287 FIGNL2 fidgetin like 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 fidgetin-like 2 AAA ATPases 413 2007-12-06 2016-02-03 2017-11-28 401720 ENSG00000261308 OTTHUMG00000175693 AK129980 NM_001013690 CCDS86302 A6NMB9 11017077 MGI:3646919 RGD:1566321 HGNC:13287 "ENST00000618634.3|NM_001384995.1" +HGNC:53299 FIGNL2-DT FIGNL2 divergent transcript non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Divergent transcripts 1990 2019-06-17 2019-06-17 105369971 ENSG00000259887 OTTHUMG00000172914 NR_135803 HGNC:53299 +HGNC:21015 FILIP1 filamin A interacting protein 1 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "FILIP|KIAA1275" 2003-05-02 2018-11-15 27145 ENSG00000118407 OTTHUMG00000015056 uc003pia.4 AB033101 NM_001289987 "CCDS75480|CCDS4984" Q7Z7B0 10574462 MGI:1917848 RGD:628597 607307 HGNC:21015 "ENST00000237172.12|NM_015687.5" +HGNC:24589 FILIP1L filamin A interacting protein 1 like protein-coding gene gene with protein product Approved 3q12.1 03q12.1 "DOC-1|GIP130" "downregulated in ovarian cancer 1|GPBP-interacting protein of 130 kDa" 2006-12-07 2016-06-02 2016-06-02 11259 ENSG00000168386 OTTHUMG00000159055 uc003dto.5 NM_014890 "CCDS43117|CCDS43118|CCDS43119|CCDS63700|CCDS74969" Q4L180 "8314147|15935955|21832087" MGI:1925999 RGD:1565927 612993 HGNC:24589 "ENST00000477258.2|NM_001387850.1" +HGNC:53755 FILNC1 FOXO induced long non-coding RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.1 06q24.1 FoxO-induced long non-coding RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2017-10-06 2017-10-06 100132735 ENSG00000231426 OTTHUMG00000015697 NR_038399 28978906 HGNC:53755 +HGNC:19124 FIP1L1 factor interacting with PAPOLA and CPSF1 protein-coding gene gene with protein product Approved 4q12 04q12 "DKFZp586K0717|FIP1|hFip1" "FIP1 like 1 (S. cerevisiae)|FIP1L1 cleavage and polyadenylation specific factor subunit" Cleavage and polyadenylation specific factor subunits 1450 2003-03-03 2013-06-18 2021-09-21 81608 ENSG00000145216 OTTHUMG00000128701 uc003gzy.4 AF161429 NM_030917 "CCDS47055|CCDS47056|CCDS3491" Q6UN15 "11230166|14749727" MGI:1914149 RGD:1309336 FIP1L1 607686 121830 HGNC:19124 "ENST00000337488.11|NM_030917.4" +HGNC:49627 FIRRE firre intergenic repeating RNA element non-coding RNA RNA, long non-coding Approved Xq26.2 Xq26.2 LINC01200 functional intergenic repeating RNA element firre intergenic RNA Long non-coding RNAs with non-systematic symbols 1992 2014-01-24 2014-04-11 2018-08-17 286467 ENSG00000213468 OTTHUMG00000022417 AK097911 NR_026975 "24463464|27009974" MGI:2147989 300999 FIRRE HGNC:49627 +HGNC:21689 FIS1 fission, mitochondrial 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CGI-135|H_NH0132A01.6" "CGI-135 protein|mitochondrial fission molecule" TTC11 "tetratricopeptide repeat domain 11|fission 1 (mitochondrial outer membrane) homolog (yeast)|fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)" Tetratricopeptide repeat domain containing 769 2003-07-09 2006-01-24 2015-06-24 2020-05-04 51024 ENSG00000214253 OTTHUMG00000157106 uc003uyj.5 AF151893 NM_016068 CCDS43626 Q9Y3D6 "14996942|16010987" MGI:1913687 RGD:1306668 609003 470338 HGNC:21689 "ENST00000223136.5|NM_016068.3" +HGNC:33714 FITM1 fat storage inducing transmembrane protein 1 protein-coding gene gene with protein product Approved 14q12 14q12 FIT1 fat-inducing transcript 1 2009-04-29 2016-03-24 2016-03-24 161247 ENSG00000139914 OTTHUMG00000133476 uc001wmf.3 NM_203402 CCDS9611 A5D6W6 18160536 MGI:1915930 RGD:1306911 612028 HGNC:33714 "ENST00000267426.6|NM_203402.3" +HGNC:16135 FITM2 fat storage inducing transmembrane protein 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ881L22.2|FIT2" fat inducing transcript 2 C20orf142 chromosome 20 open reading frame 142 2001-07-17 2009-04-29 2016-03-24 2021-05-26 128486 ENSG00000197296 OTTHUMG00000032522 uc002xlr.2 BC029662 NM_001080472 CCDS33473 Q8N6M3 18160536 MGI:2444508 RGD:1307696 612029 HGNC:16135 "ENST00000396825.4|NM_001080472.4" HGNC:16135 +HGNC:25917 FIZ1 FLT3 interacting zinc finger 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ14768|ZNF798" Zinc fingers C2H2-type 28 2006-08-20 2016-02-15 2021-04-27 84922 ENSG00000179943 OTTHUMG00000180858 uc002qli.4 AK027674 NM_032836 CCDS12928 Q96SL8 12566383 MGI:1344336 RGD:1306359 609133 HGNC:25917 "ENST00000221665.5|NM_032836.3" +HGNC:17166 FJX1 four-jointed box kinase 1 protein-coding gene gene with protein product Approved 11p13 11p13 "FLJ22416|FLJ25593" putative secreted ligand homologous to fjx1 "four jointed box 1 (Drosophila)|four jointed box 1" Golgi associated kinase family 1637 2001-11-21 2018-09-27 2018-09-27 24147 ENSG00000179431 OTTHUMG00000166310 uc001mwh.4 AJ245599 NM_014344 CCDS44570 Q86VR8 "7647465|10072791" MGI:1341907 RGD:1306113 612206 HGNC:17166 "ENST00000317811.6|NM_014344.4" +HGNC:3711 FKBP1A FKBP prolyl isomerase 1A protein-coding gene gene with protein product Approved 20p13 20p13 "FKBP-12|FKBP12|PKC12|PPIASE|FKBP12C" calstabin 1 FKBP1 "FK506-binding protein 1A (12kD)|FK506 binding protein 1A, 12kDa|FK506 binding protein 1A" "FKBP prolyl isomerases|MicroRNA protein coding host genes" "910|1691" 1992-09-14 2018-11-01 2018-11-01 2280 ENSG00000088832 OTTHUMG00000031666 uc002wey.4 M92423 NM_000801 "CCDS74688|CCDS13014" P62942 1930186 MGI:95541 RGD:2617 186945 470340 objectId:2609 5.2.1.8 HGNC:3711 "ENST00000400137.9|NM_000801.5" +HGNC:41997 FKBP1A-SDCBP2 FKBP1A-SDCBP2 readthrough (NMD candidate) other readthrough Approved 20p13 20p13 2011-05-31 2013-05-09 2014-11-19 100528031 NR_037661 HGNC:41997 +HGNC:3714 FKBP1AP1 FKBP prolyl isomerase 1A pseudogene 1 pseudogene pseudogene Approved 19q13.43 19q13.43 FKBP1P1 "FK506-binding protein 1 pseudogene 1|FK506 binding protein 1 pseudogene 1|FK506 binding protein 1A, 12kDa pseudogene 1|FK506 binding protein 1A pseudogene 1" 1992-09-14 2010-01-07 2018-11-01 2018-11-01 2282 ENSG00000269304 OTTHUMG00000183480 "M80196|M80201" NR_024162 1716149 PGOHUM00000295150 HGNC:3714 +HGNC:3715 FKBP1AP2 FKBP prolyl isomerase 1A pseudogene 2 pseudogene pseudogene Approved 15q24.1 15q24.1 FKBP1P2 "FK506-binding protein 1 pseudogene 2|FK506 binding protein 1 pseudogene 2|FK506 binding protein 1A, 12kDa pseudogene 2|FK506 binding protein 1A pseudogene 2" 1992-09-14 2010-01-07 2018-11-01 2018-11-01 2283 ENSG00000259691 OTTHUMG00000172551 "M80197|M80202" NG_008623 1716149 PGOHUM00000293009 HGNC:3715 +HGNC:3716 FKBP1AP3 FKBP prolyl isomerase 1A pseudogene 3 pseudogene pseudogene Approved 13q14.13 13q14.13 FKBP1P3 "FK506-binding protein 1 pseudogene 3|FK506 binding protein 1 pseudogene 3|FK506 binding protein 1A, 12kDa pseudogene 3|FK506 binding protein 1A pseudogene 3" 1992-09-15 2010-01-07 2018-11-01 2018-11-01 2284 ENSG00000230243 OTTHUMG00000016873 M80200 NG_006209 1716149 PGOHUM00000292148 HGNC:3716 +HGNC:3717 FKBP1AP4 FKBP prolyl isomerase 1A pseudogene 4 pseudogene pseudogene Approved 3q25.1 03q25.1 FKBP1P4 "FK506-binding protein 1 pseudogene 4|FK506 binding protein 1 pseudogene 4|FK506 binding protein 1A, 12kDa pseudogene 4|FK506 binding protein 1A pseudogene 4" 1992-09-15 2010-01-07 2018-11-01 2018-11-01 2285 ENSG00000282502 OTTHUMG00000190905 "M80198|M80203" NG_006255 1716149 PGOHUM00000299224 HGNC:3717 +HGNC:3712 FKBP1B FKBP prolyl isomerase 1B protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "OTK4|FKBP12.6|PPIase|FKBP9" calstabin 2 FKBP1L "FK506-binding protein 1B (12.6 kD)|FK506 binding protein 1B, 12.6 kDa|FK506 binding protein 1B" FKBP prolyl isomerases 910 1999-02-15 2018-11-01 2018-11-01 2281 ENSG00000119782 OTTHUMG00000151889 uc002rer.4 D38037 NM_004116 "CCDS33153|CCDS82423|CCDS1706" P68106 7513996 MGI:1336205 RGD:61835 600620 HGNC:3712 "ENST00000380986.9|NM_004116.5" +HGNC:52378 FKBP1BP1 FKBP prolyl isomerase 1B pseudogene 1 pseudogene pseudogene Approved 14q21.1 14q21.1 FK506 binding protein 1B pseudogene 1 2016-08-19 2018-11-01 2018-11-01 107984636 ENSG00000258536 OTTHUMG00000170681 NG_051660 PGOHUM00000292639 HGNC:52378 +HGNC:21376 FKBP1C FKBP prolyl isomerase family member 1C other unknown Approved 6q12 06q12 bA184C23.2 "FK506 binding protein 1C|FKBP prolyl isomerase 1C" FKBP prolyl isomerases 910 2003-11-26 2020-09-23 2020-09-23 642489 ENSG00000198225 OTTHUMG00000014940 uc063phw.1 NG_008622 MGI:95541 HGNC:21376 +HGNC:3718 FKBP2 FKBP prolyl isomerase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FKBP-13|FKBP13|PPIase" "FK506 binding protein 2 (13kD)|peptidyl-prolyl cis-trans isomerase|rapamycin-binding protein|proline isomerase" "FK506-binding protein 2 (13kD)|FK506 binding protein 2, 13kDa|FK506 binding protein 2" FKBP prolyl isomerases 910 1992-09-14 2018-11-01 2019-04-09 2286 ENSG00000173486 OTTHUMG00000167814 uc001nyy.4 M75099 NM_004470 CCDS8063 P26885 1713687 MGI:95542 RGD:1560660 186946 HGNC:3718 "ENST00000309366.9|NM_004470.4" +HGNC:3719 FKBP3 FKBP prolyl isomerase 3 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 "FKBP-25|FKBP25" "FK506-binding protein 3 (25kD)|FK506 binding protein 3, 25kDa|FK506 binding protein 3" FKBP prolyl isomerases 910 1992-09-14 2018-11-01 2019-04-09 2287 ENSG00000100442 OTTHUMG00000140267 uc059bdf.1 M96256 NM_002013 CCDS9683 Q00688 "1374240|1532945" MGI:1353460 RGD:1304992 186947 HGNC:3719 "ENST00000396062.4|NM_002013.4" +HGNC:3720 FKBP4 FKBP prolyl isomerase 4 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "FKBP59|FKBP52" "FK506-binding protein 4 (59kD)|FK506 binding protein 4, 59kDa|FK506 binding protein 4" "Tetratricopeptide repeat domain containing|FKBP prolyl isomerases" "769|910" 1992-09-14 2018-11-01 2018-11-01 2288 ENSG00000004478 OTTHUMG00000090429 uc001qkz.4 M88279 NM_002014 CCDS8512 Q02790 1279700 MGI:95543 RGD:628729 600611 objectId:3176 HGNC:3720 "ENST00000001008.6|NM_002014.4" +HGNC:44038 FKBP4P1 FKBP prolyl isomerase 4 pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 "FK506 binding protein 4, 59kDa pseudogene 1|FK506 binding protein 4 pseudogene 1" 2012-05-29 2018-11-01 2018-11-01 100132656 ENSG00000251463 OTTHUMG00000161414 NG_008629 PGOHUM00000299969 HGNC:44038 +HGNC:50371 FKBP4P2 FKBP prolyl isomerase 4 pseudogene 2 pseudogene pseudogene Approved 9p12 09p12 "FK506 binding protein 4, 59kDa pseudogene 2|FK506 binding protein 4 pseudogene 2" 2014-04-24 2018-11-01 2018-11-01 389727 ENSG00000269692 OTTHUMG00000013210 NG_021649 PGOHUM00000304189 HGNC:50371 +HGNC:50375 FKBP4P6 FKBP prolyl isomerase 4 pseudogene 6 pseudogene pseudogene Approved 9p11.1 09p11.1 "FKBP4P4|FKBP4P5" "FK506 binding protein 4, 59kDa pseudogene 4|FK506 binding protein 4, 59kDa pseudogene 6|FK506 binding protein 4 pseudogene 5|FK506 binding protein 4, 59kDa pseudogene 5|FK506 binding protein 4 pseudogene 6" 2014-04-24 2018-11-01 2018-11-01 100132268 ENSG00000268234 OTTHUMG00000066806 NG_021617 PGOHUM00000304219 HGNC:50375 +HGNC:50376 FKBP4P7 FKBP prolyl isomerase 4 pseudogene 7 pseudogene pseudogene Approved 9q13 09q13 FKBP4P3 "FK506 binding protein 4, 59kDa pseudogene 3|FK506 binding protein 4, 59kDa pseudogene 7|FK506 binding protein 4 pseudogene 7" 2014-04-24 2018-11-01 2018-11-01 441410 ENSG00000235256 OTTHUMG00000013190 NG_008628 PGOHUM00000303862 HGNC:50376 +HGNC:50377 FKBP4P8 FKBP prolyl isomerase 4 pseudogene 8 pseudogene pseudogene Approved 9q21.11 09q21.11 "FK506 binding protein 4, 59kDa pseudogene 8|FK506 binding protein 4 pseudogene 8" 2014-04-24 2018-11-01 2018-11-01 643880 ENSG00000276457 OTTHUMG00000188569 NG_021618 PGOHUM00000303917 HGNC:50377 +HGNC:3721 FKBP5 FKBP prolyl isomerase 5 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "FKBP51|FKBP54|PPIase|P54|Ptg-10" "FK506-binding protein 5|FK506 binding protein 5" "Tetratricopeptide repeat domain containing|FKBP prolyl isomerases|MicroRNA protein coding host genes" "769|910|1691" 1997-06-09 2018-11-01 2018-11-01 2289 ENSG00000096060 OTTHUMG00000014576 uc003oky.3 U42031 NM_001145775 "CCDS54996|CCDS4808" Q13451 9001212 MGI:104670 RGD:1309155 602623 objectId:3175 HGNC:3721 "ENST00000357266.9|NM_004117.4" +HGNC:3722 FKBP6 FKBP prolyl isomerase family member 6 (inactive) protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "PPIase|FKBP36" "FK506 binding protein 6 (36kD)|peptidylprolyl cis-trans isomerase|rotamase|immunophilin FKBP36" "FK506-binding protein 6 (36kD)|FK506 binding protein 6, 36kDa" FKBP prolyl isomerases 910 1998-12-09 2020-09-23 2020-09-23 8468 ENSG00000077800 OTTHUMG00000150520 uc003tya.4 AF038847 NM_003602 "CCDS64670|CCDS47604|CCDS43595" O75344 "9782077|18529014|19001379" MGI:2137612 RGD:1308926 604839 HGNC:3722 "ENST00000252037.5|NM_003602.5" +HGNC:3723 FKBP7 FKBP prolyl isomerase 7 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 FKBP23 "FK506-binding protein 7|FK506 binding protein 7" "EF-hand domain containing|FKBP prolyl isomerases" "863|910" 1998-12-09 2018-11-01 2018-11-01 51661 ENSG00000079150 OTTHUMG00000132577 uc002umk.4 AF092137 NM_181342 "CCDS46462|CCDS2280" Q9Y680 9806833 MGI:1336879 RGD:1305293 607062 HGNC:3723 "ENST00000424785.7|NM_181342.3" +HGNC:3724 FKBP8 FKBP prolyl isomerase 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FKBP38|FKBPr38" FK506-binding protein 8 (38kD) "FK506-binding protein 8 (38kD)|FK506 binding protein 8, 38kDa|FK506 binding protein 8" "Tetratricopeptide repeat domain containing|FKBP prolyl isomerases" "769|910" 1999-10-28 2018-11-01 2018-11-01 23770 ENSG00000105701 OTTHUMG00000183368 uc002njj.2 L37033 NM_012181 "CCDS32961|CCDS77266" Q14318 7543869 MGI:1341070 RGD:1308670 604840 objectId:3177 HGNC:3724 "ENST00000608443.6|NM_012181.5" +HGNC:3725 FKBP9 FKBP prolyl isomerase 9 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "FKBP60|FKBP63" "FK506-binding protein 9 (63 kD)|FK506 binding protein 9, 63 kDa|FK506 binding protein 9" "EF-hand domain containing|FKBP prolyl isomerases" "863|910" 1999-10-28 2018-11-01 2018-11-01 11328 ENSG00000122642 OTTHUMG00000097847 uc003tdh.5 AF089745 NM_007270 "CCDS5439|CCDS64623|CCDS64622" O95302 12036304 MGI:1350921 RGD:1549757 616257 HGNC:3725 "ENST00000242209.9|NM_007270.5" +HGNC:23568 FKBP9P1 FKBP prolyl isomerase 9 pseudogene 1 pseudogene pseudogene Approved 7p11.2 07p11.2 MGC20531 FKBP9L "FK506 binding protein 9-like|FK506 binding protein 9 pseudogene 1" 2003-11-24 2014-04-01 2018-11-01 2018-11-01 360132 ENSG00000176826 OTTHUMG00000097835 BC011872 NR_003949 Q75LS8 12036304 PGOHUM00000232699 HGNC:23568 +HGNC:18169 FKBP10 FKBP prolyl isomerase 10 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "hFKBP65|FKBP65|FLJ22041|FKBP6|FLJ20683|FLJ23833" "FK506 binding protein 10 (65 kDa)|FK506 binding protein 10, 65 kDa|FK506 binding protein 10" "EF-hand domain containing|FKBP prolyl isomerases" "863|910" 2002-03-12 2018-11-01 2021-05-26 60681 ENSG00000141756 OTTHUMG00000133497 uc002hxv.3 AB045981 NM_021939 CCDS11409 Q96AY3 "11071917|18786928" MGI:104769 RGD:1549751 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=FKBP10|LRG_12|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_12.xml" 607063 233035 HGNC:18169 "ENST00000321562.9|NM_021939.4" HGNC:18169 +HGNC:18624 FKBP11 FKBP prolyl isomerase 11 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 FKBP19 "FK506 binding protein 11 (19 kDa)|FK506 binding protein 11, 19 kDa|FK506 binding protein 11" FKBP prolyl isomerases 910 2002-06-05 2018-11-01 2019-08-21 51303 ENSG00000134285 OTTHUMG00000170402 uc001rsp.4 AF238079 NM_016594 "CCDS8773|CCDS44871|CCDS44870" Q9NYL4 "12036304|16596453" MGI:1913370 RGD:1306161 610571 HGNC:18624 "ENST00000550765.6|NM_016594.3" +HGNC:18625 FKBP14 FKBP prolyl isomerase 14 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "FLJ20731|FKBP22" "FK506 binding protein 14 (22 kDa)|FK506 binding protein 14, 22 kDa|FK506 binding protein 14" "EF-hand domain containing|FKBP prolyl isomerases" "863|910" 2002-06-05 2018-11-01 2021-05-26 55033 ENSG00000106080 OTTHUMG00000023442 uc003tal.3 AK000738 NM_017946 CCDS5423 Q9NWM8 "12036304|24821723" MGI:2387639 RGD:1311705 LRG_454|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_454.xml 614505 304165 HGNC:18625 "ENST00000222803.10|NM_017946.4" HGNC:18625 +HGNC:40990 FKBP14-AS1 FKBP14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 Antisense RNAs 1987 2020-03-19 2020-03-19 105375215 ENSG00000227014 OTTHUMG00000152760 XR_007060272 +HGNC:23397 FKBP15 FKBP prolyl isomerase family member 15 protein-coding gene gene with protein product Approved 9q32 09q32 "PPP1R76|FKBP133|WAFL" "protein phosphatase 1, regulatory subunit 76|WASP and FKBP-like protein" KIAA0674 "KIAA0674|FK506 binding protein 15, 133kDa|FK506 binding protein 15" "Protein phosphatase 1 regulatory subunits|FKBP prolyl isomerases" "694|910" 2004-05-28 2006-10-31 2020-09-23 2021-05-26 23307 ENSG00000119321 OTTHUMG00000020518 uc004bgs.3 AB014574 NM_015258 CCDS48007 Q5T1M5 "16756961|18654788" MGI:2444782 RGD:1304816 617398 HGNC:23397 "ENST00000238256.8|NM_015258.2" +HGNC:13949 FKBPL FKBP prolyl isomerase like protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "DIR1|NG7|WISp39" WAF-1/CIP1 stabilizing protein 39 "FK506-binding protein like|FK506 binding protein like" "Tetratricopeptide repeat domain containing|FKBP prolyl isomerases" "769|910" 2001-04-06 2018-11-01 2018-11-01 63943 ENSG00000204315 OTTHUMG00000031129 uc003nzr.4 AF139374 NM_022110 CCDS4738 Q9UIM3 9056895 MGI:1932127 RGD:1303227 617076 objectId:3178 HGNC:13949 "ENST00000375156.4|NM_022110.4" +HGNC:17997 FKRP fukutin related protein protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "LGMD2I|MDC1C|FKTR" 2003-12-04 2021-04-13 79147 ENSG00000181027 OTTHUMG00000183177 uc002pfn.3 AJ314847 NM_024301 CCDS12691 Q9H9S5 "11592034|11741828" MGI:2447586 RGD:1305852 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/FKRP|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=FKRP|LRG_761|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_761.xml" 606596 121835 HGNC:17997 "ENST00000318584.10|NM_024301.5" HGNC:17997 +HGNC:3622 FKTN fukutin protein-coding gene gene with protein product Approved 9q31.2 09q31.2 LGMD2M FCMD Fukuyama type congenital muscular dystrophy (fukutin) 1993-12-01 2007-11-21 2007-11-21 2021-04-13 2218 ENSG00000106692 OTTHUMG00000020425 uc004bcs.3 NM_006731 CCDS6766 O75072 "8275093|17036286|17044012" MGI:2179507 RGD:1310087 "FCMD - Fukuyama type congenital muscular dystrophy |http://www.LOVD.nl/FCMD |Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=FKTN|LRG_434|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_434.xml" 607440 121775 HGNC:3622 "ENST00000357998.10|NM_001079802.2" HGNC:3622 +HGNC:55797 FKTN-AS1 FKTN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q31.2 09q31.2 Antisense RNAs 1987 2021-07-29 2021-07-29 105376199 ENSG00000228317 XR_007061709 +HGNC:14439 FLACC1 flagellum associated containing coiled-coil domains 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 ALS2CR12 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12|ALS2 chromosome region 12" 2001-01-26 2019-02-25 2019-02-25 2019-02-25 130540 ENSG00000155749 OTTHUMG00000132824 uc010ftg.3 AB053314 NM_139163 "CCDS2346|CCDS46488" Q96Q35 "11586298|21402173" MGI:1918359 RGD:1359362 619796 HGNC:14439 "ENST00000392257.8|NM_001127391.3" +HGNC:24671 FLAD1 flavin adenine dinucleotide synthetase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PP591|FAD1" "Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)|FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)|flavin adenine dinucleotide synthetase" 2005-07-29 2013-03-05 2021-05-26 80308 ENSG00000160688 OTTHUMG00000037416 uc001fge.3 NM_025207 "CCDS1079|CCDS1078|CCDS53372|CCDS53371" Q8NFF5 MGI:2443030 RGD:1593292 610595 470342 2.7.7.2 HGNC:24671 "ENST00000292180.8|NM_025207.5" HGNC:24671 +HGNC:27310 FLCN folliculin protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "BHD|MGC17998|MGC23445|DENND8B" DENN domain containing 504 2004-08-05 2021-05-26 201163 ENSG00000154803 OTTHUMG00000059275 uc002gra.5 AF517523 NM_144606 "CCDS32580|CCDS32579" Q8NFG4 17028174 MGI:2442184 RGD:735088 "LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=FLCN|The Folliculin Mutation Database|http://www.skingenedatabase.com/home.php?select_db=FLCN|LRG_325|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_325.xml" FLCN 607273 121839 HGNC:27310 "ENST00000285071.9|NM_144997.7" HGNC:27310 +HGNC:3748 FLG filaggrin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "EF-hand domain containing|S100 fused type protein family" "863|1350" 1989-10-18 2021-05-26 2312 ENSG00000143631 OTTHUMG00000012202 uc001ezu.1 NM_002016 CCDS30860 P20930 "2740331|2248957|16444271" RGD:2620 LRG_1028|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1028.xml 135940 121844 HGNC:3748 "ENST00000368799.2|NM_002016.2" HGNC:3748 +HGNC:27913 FLG-AS1 FLG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 FLG antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2014-11-19 339400 ENSG00000237975 OTTHUMG00000012203 uc057kzw.1 "BC041408|AK056431" NR_103778 12477932 FLG-AS1 HGNC:27913 +HGNC:33276 FLG2 filaggrin 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 IFPS ifapsoriasin filaggrin family member 2 "EF-hand domain containing|S100 fused type protein family" "863|1350" 2007-08-21 2021-10-28 2021-10-28 388698 ENSG00000143520 OTTHUMG00000012245 uc001ezw.5 AY827490 NM_001014342 CCDS30861 Q5D862 19384417 MGI:3645678 RGD:1566121 616284 HGNC:33276 "ENST00000388718.5|NM_001014342.3" HGNC:33276 +HGNC:3749 FLI1 Fli-1 proto-oncogene, ETS transcription factor protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "SIC-1|EWSR2|FLI-1" Friend leukemia virus integration 1 ETS transcription factor family 534 1991-06-05 2013-08-07 2021-11-25 2313 ENSG00000151702 OTTHUMG00000165792 uc010sbu.3 M98833 NM_002017 "CCDS59230|CCDS44768|CCDS59231|CCDS53725" Q01543 1765382 MGI:95554 RGD:1309837 LRG_646|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_646.xml FLI1 193067 121846 HGNC:3749 "ENST00000527786.7|NM_002017.5" +HGNC:53589 FLICR FOXP3 regulating long intergenic non-coding RNA non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 Long non-coding RNAs with non-systematic symbols 1992 2017-06-16 2017-06-16 110437700 NR_147988 28396406 HGNC:53589 +HGNC:3750 FLII FLII actin remodeling protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLI|FLIL|Fli1|MGC39265" "flightless I (Drosophila) homolog|flightless I homolog (Drosophila)|flightless I actin binding protein" Gelsolin/villins 950 1995-10-11 2019-01-21 2019-01-21 2314 ENSG00000177731 OTTHUMG00000059389 uc002gsr.3 U01184 NM_002018 "CCDS58521|CCDS11192|CCDS58522" Q13045 "7825574|26521845|22581781" MGI:1342286 RGD:1307590 600362 121850 HGNC:3750 "ENST00000327031.9|NM_002018.4" +HGNC:3754 FLNA filamin A protein-coding gene gene with protein product Approved Xq28 Xq28 ABP-280 "actin binding protein 280|alpha filamin" "FLN1|FLN|OPD2|OPD1" "filamin A, alpha (actin binding protein 280)|filamin A, alpha" Filamins 1889 1993-03-18 2015-12-16 2021-05-26 2316 ENSG00000196924 OTTHUMG00000022712 uc010nuu.1 X70082 NM_001110556 "CCDS44021|CCDS48194" P21333 "8406501|12612583" MGI:95556 RGD:1560614 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FLNA|LRG_1340|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1340.xml" 300017 121853 HGNC:3754 "ENST00000369850.10|NM_001110556.2" HGNC:3754 +HGNC:3755 FLNB filamin B protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "TAP|TABP|ABP-278|FH1" "actin binding protein 278|beta filamin" "FLN1L|LRS1" "filamin B, beta (actin binding protein 278)|Larsen syndrome 1 (autosomal dominant)|filamin B, beta" Filamins 1889 1997-06-20 2015-12-16 2021-05-26 2317 ENSG00000136068 OTTHUMG00000159158 uc003djj.3 AF043045 NM_001457 "CCDS54600|CCDS54601|CCDS2885|CCDS54599" O75369 "8327473|10449914|14991055|16801345" MGI:2446089 RGD:1311915 603381 121860 HGNC:3755 "ENST00000295956.9|NM_001457.4" HGNC:3755 +HGNC:40239 FLNB-AS1 FLNB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 FLNB antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2020-04-20 105377105 ENSG00000244161 OTTHUMG00000159156 uc003djn.5 NR_135534 FLNB-AS1 HGNC:40239 +HGNC:3756 FLNC filamin C protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "ABP-280|ABPL" "actin binding protein 280|gamma filamin" FLN2 "filamin C, gamma (actin binding protein 280)|filamin C, gamma" Filamins 1889 1993-08-24 2015-12-16 2021-05-26 2318 ENSG00000128591 OTTHUMG00000023627 uc003vnz.5 AB208865 NM_001127487 "CCDS47705|CCDS43644" Q14315 "7689010|8088838" MGI:95557 RGD:1308807 LRG_870|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_870.xml 102565 121867 HGNC:3756 "ENST00000325888.13|NM_001458.5" HGNC:3756 +HGNC:53474 FLNC-AS1 FLNC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q32.1 07q32.1 Antisense RNAs 1987 2017-04-28 2017-04-28 110806300 ENSG00000242902 OTTHUMG00000158366 NR_149055 28391028 HGNC:53474 +HGNC:3757 FLOT1 flotillin 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 Flotillins 1114 2000-05-30 2016-10-05 10211 ENSG00000137312 OTTHUMG00000031151 uc003nrm.4 AF089750 NM_001318875 CCDS4688 O75955 MGI:1100500 RGD:70991 606998 HGNC:3757 "ENST00000376389.8|NM_005803.4" +HGNC:3758 FLOT2 flotillin 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "ESA|ESA1|ECS-1|ECS1" "Flotillin 2 (epidermal surface antigen 1)|membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)" M17S1 Flotillins 1114 1991-05-09 2015-08-05 2319 ENSG00000132589 OTTHUMG00000132674 uc002hdc.4 M60922 NM_004475 "CCDS82097|CCDS11245" Q14254 1769667 MGI:103309 RGD:70993 131560 HGNC:3758 "ENST00000394908.9|NM_004475.3" +HGNC:3760 FLRT1 fibronectin leucine rich transmembrane protein 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "MGC21624|SPG68" Fibronectin type III domain containing 555 1999-10-29 2020-01-22 23769 ENSG00000126500 OTTHUMG00000167788 uc001nyi.2 AF169675 NM_013280 CCDS8057 Q9NZU1 "10644439|24482476" MGI:3026647 RGD:1565152 604806 403385 HGNC:3760 "ENST00000682287.1|NM_013280.5" HGNC:3760 +HGNC:3761 FLRT2 fibronectin leucine rich transmembrane protein 2 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 Fibronectin type III domain containing 555 1999-10-29 2016-01-15 23768 ENSG00000185070 OTTHUMG00000171372 uc001xvr.4 AF169676 NM_001346143 CCDS9877 O43155 "10644439|16872596" MGI:3603594 RGD:1308574 604807 HGNC:3761 "ENST00000330753.6|NM_013231.6" +HGNC:55912 FLRT2-AS1 FLRT2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 Antisense RNAs 1987 2021-10-08 2021-10-08 100506731 ENSG00000205562 XR_110231 +HGNC:3762 FLRT3 fibronectin leucine rich transmembrane protein 3 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 Fibronectin type III domain containing 555 1999-10-29 2016-10-05 23767 ENSG00000125848 OTTHUMG00000031914 uc002wow.3 AF169677 NM_013281 CCDS13121 Q9NZU0 10644439 MGI:1918686 RGD:1566005 604808 353751 HGNC:3762 "ENST00000341420.5|NM_198391.3" HGNC:3762 +HGNC:3763 FLT1 fms related receptor tyrosine kinase 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 VEGFR1 "vascular endothelial growth factor receptor 1|vascular permeability factor receptor" FLT "fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)|fms-related tyrosine kinase 1|fms related tyrosine kinase 1" "Receptor tyrosine kinases|I-set domain containing" "321|593" 1986-01-01 2019-12-05 2021-05-26 2321 ENSG00000102755 OTTHUMG00000016648 uc001usb.4 AF063657 NM_002019 "CCDS53861|CCDS53860|CCDS9330|CCDS73556" P17948 2158038 MGI:95558 RGD:2621 "The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=FLT1|LRG_425|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_425.xml" 165070 objectId:1812 2.7.10.1 HGNC:3763 "ENST00000282397.9|NM_002019.4" +HGNC:44609 FLT1P1 FLT1 pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 LOC391533 fms related tyrosine kinase 1 pseudogene 1 2012-11-19 2019-12-05 2019-12-05 391533 ENSG00000229515 OTTHUMG00000156234 NG_005897 24312300 PGOHUM00000237611 HGNC:44609 +HGNC:3765 FLT3 fms related receptor tyrosine kinase 3 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "STK1|FLK2|CD135" "fms-related tyrosine kinase 3|fms related tyrosine kinase 3" "Receptor tyrosine kinases|CD molecules|Immunoglobulin like domain containing" "321|471|594" 1990-07-30 2019-12-05 2021-05-26 2322 ENSG00000122025 OTTHUMG00000016646 uc001urw.3 U02687 NM_004119 CCDS31953 P36888 8394751 MGI:95559 RGD:61308 LRG_457|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_457.xml FLT3 136351 138366 objectId:1807 CD135 2.7.10.1 HGNC:3765 "ENST00000241453.12|NM_004119.3" +HGNC:3766 FLT3LG fms related receptor tyrosine kinase 3 ligand protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "fms-related tyrosine kinase 3 ligand|fms related tyrosine kinase 3 ligand" Receptor ligands 542 1994-07-21 2019-12-05 2019-12-05 2323 ENSG00000090554 OTTHUMG00000186490 uc002pnu.4 U04806 NM_001204502 "CCDS12767|CCDS62753" P49771 "8145851|7824267" MGI:95560 RGD:2322792 600007 ligandId:4932 HGNC:3766 "ENST00000597551.6|NM_001459.4" +HGNC:3767 FLT4 fms related receptor tyrosine kinase 4 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "VEGFR3|PCL|VEGFR-3" "vascular endothelial growth factor receptor 3|VEGF receptor-3|Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4|primary congenital lymphedema" "fms-related tyrosine kinase 4|fms related tyrosine kinase 4" "Receptor tyrosine kinases|I-set domain containing" "321|593" 1991-10-25 2019-12-05 2021-05-26 2324 ENSG00000037280 OTTHUMG00000130931 uc003mlz.4 X68203 NM_001354989 "CCDS87360|CCDS43412|CCDS4457" P35916 1319394 MGI:95561 RGD:621737 FLT4 136352 121872 objectId:1814 2.7.10.1 HGNC:3767 "ENST00000261937.11|NM_182925.5" HGNC:3767 +HGNC:24682 FLVCR1 FLVCR heme transporter 1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "FLVCR|MFSD7B|PCA|SLC49A1" AXPC1 "ataxia, posterior column 1, with retinitis pigmentosa|feline leukemia virus subgroup C cellular receptor 1" Solute carriers 752 2007-05-01 2019-09-30 2021-05-26 28982 ENSG00000162769 OTTHUMG00000036924 uc001hjt.3 AF118637 NM_014053 CCDS1510 Q9Y5Y0 "10400745|10648427|21070897" MGI:2444881 RGD:1596541 609144 SLC49A1 246647 objectId:1910 HGNC:24682 "ENST00000366971.9|NM_014053.4" HGNC:24682 +HGNC:39077 FLVCR1-DT FLVCR1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 LQK1 "NCRNA00292|FLVCR1-AS1" "non-protein coding RNA 292|FLVCR1 antisense RNA 1 (non-protein coding)|FLVCR1 antisense RNA 1|FLVCR1 antisense RNA 1 (head to head)" Divergent transcripts 1990 2010-10-05 2018-03-23 2018-03-23 2018-06-20 642946 ENSG00000198468 OTTHUMG00000036923 uc057pgy.1 NR_027285 Q8TAF5 "11943475|29574975" 610864 FLVCR1-AS1 HGNC:39077 +HGNC:20105 FLVCR2 FLVCR heme transporter 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ20371|MFSD7C|SLC49A2|CCT" C14orf58 "chromosome 14 open reading frame 58|feline leukemia virus subgroup C cellular receptor 2|feline leukemia virus subgroup C cellular receptor family member 2" "Solute carriers|MicroRNA protein coding host genes" "752|1691" 2002-12-18 2007-05-01 2019-09-30 2021-05-26 55640 ENSG00000119686 OTTHUMG00000171487 uc001xrs.3 AK000378 NM_017791 "CCDS55933|CCDS9844" Q9UPI3 "16439531|20206334" MGI:2384974 RGD:735098 610865 SLC49A2 227058 objectId:1911 HGNC:20105 "ENST00000238667.9|NM_017791.3" HGNC:20105 +HGNC:55854 FLVCR2-AS1 FLVCR2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Antisense RNAs 1987 2021-09-03 2021-09-03 102724153 ENSG00000224721 NR_110552 +HGNC:25404 FLYWCH1 FLYWCH-type zinc finger 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 DKFZp761A132 Zinc fingers 26 2005-02-08 2007-06-21 2007-06-21 2013-01-10 84256 ENSG00000059122 OTTHUMG00000177364 uc002csc.4 AL136585 NM_032296 "CCDS45390|CCDS76809" Q4VC44 "11230166|10997877" MGI:2442638 RGD:1309385 HGNC:25404 "ENST00000253928.14|NM_001308068.2" +HGNC:38033 FLYWCH1P1 FLYWCH-type zinc finger 1 pseudogene 1 pseudogene pseudogene Approved 3q26.33 03q26.33 2010-03-23 2014-11-19 100130898 ENSG00000239516 OTTHUMG00000157928 NG_022230 PGOHUM00000237881 HGNC:38033 +HGNC:25178 FLYWCH2 FLYWCH family member 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 2007-06-21 2007-06-21 2014-11-18 114984 ENSG00000162076 OTTHUMG00000128962 uc002csa.4 BC014089 NM_138439 CCDS10482 Q96CP2 12477932 MGI:1924167 RGD:6497122 HGNC:25178 "ENST00000396958.8|NM_138439.3" +HGNC:26946 FMC1 formation of mitochondrial complex V assembly factor 1 homolog protein-coding gene gene with protein product Approved 7q34 07q34 HSPC268 formation of mitochondrial complexes 1 homolog (S. cerevisiae) C7orf55 "chromosome 7 open reading frame 55|formation of mitochondrial complex V assembly factor 1" 2007-07-13 2016-06-16 2016-06-16 2021-04-22 154791 ENSG00000164898 OTTHUMG00000151719 uc003vuw.5 AF161386 NM_197964 CCDS5853 Q96HJ9 "11096112|28719601" MGI:1913367 RGD:1559476 HGNC:26946 "ENST00000297534.7|NM_197964.5" +HGNC:44671 FMC1-LUC7L2 FMC1-LUC7L2 readthrough other readthrough Approved 7q34 07q34 C7orf55-LUC7L2 C7orf55-LUC7L2 readthrough 2013-02-14 2018-11-26 2018-11-26 2018-11-26 100996928 ENSG00000269955 OTTHUMG00000151717 uc011kqt.4 NM_001244584 CCDS59084 MGI:1913367 HGNC:44671 +HGNC:3768 FMN1 formin 1 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "DKFZP686C2281|FLJ45135|MGC125288|MGC125289" limb deformity protein "LD|FMN" formin (limb deformity) Formins 2006 1990-03-12 2005-01-22 2005-01-20 2013-06-13 342184 ENSG00000248905 OTTHUMG00000172201 uc001zhf.6 AH002864 NM_001103184 "CCDS61581|CCDS45209|CCDS61582" Q68DA7 1673046 MGI:101815 RGD:1306349 136535 470344 HGNC:3768 "ENST00000616417.5|NM_001277313.2" +HGNC:14074 FMN2 formin 2 protein-coding gene gene with protein product Approved 1q43 01q43 Formins 2006 2000-11-28 2021-05-26 56776 ENSG00000155816 OTTHUMG00000039883 uc010pyd.3 AF218942 NM_020066 CCDS31069 Q9NZ56 10781961 MGI:1859252 RGD:2322099 606373 420169 HGNC:14074 "ENST00000319653.14|NM_020066.5" HGNC:14074 +HGNC:54909 FMN2P1 FMN2 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-04-24 100418721 ENSG00000231388 NG_026808 +HGNC:1212 FMNL1 formin like 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 C17orf1 "C17orf1B|FMNL" "formin-like|formin-like 1" "Armadillo like helical domain containing|Formins" "1492|2006" 1999-06-25 2003-12-03 2015-11-12 2020-09-17 752 ENSG00000184922 OTTHUMG00000180196 uc002iin.4 AJ008112 NM_005892 CCDS11497 O95466 "9799091|12684686" MGI:1888994 RGD:1311042 604656 HGNC:1212 "ENST00000331495.8|NM_005892.4" +HGNC:55717 FMNL1-AS1 FMNL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Antisense RNAs 1987 2021-07-12 2021-07-12 107985040 ENSG00000233175 +HGNC:55311 FMNL1-DT FMNL1 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Divergent transcripts 1990 2020-10-19 2020-10-19 339192 ENSG00000267121 NR_147507 +HGNC:18267 FMNL2 formin like 2 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 KIAA1902 FHOD2 "formin homology 2 domain containing 2|formin-like 2" "Armadillo like helical domain containing|Formins" "1492|2006" 2002-02-19 2003-12-03 2015-11-12 2015-11-12 114793 ENSG00000157827 OTTHUMG00000154035 uc002tye.3 AB067489 NM_052905 CCDS46429 Q96PY5 12684686 MGI:1918659 RGD:1560248 616285 HGNC:18267 "ENST00000288670.14|NM_052905.4" +HGNC:23698 FMNL3 formin like 3 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "DKFZp762B245|MGC45819|WBP3" formin-like 3 "Armadillo like helical domain containing|Formins" "1492|2006" 2003-12-02 2015-11-12 2015-11-12 91010 ENSG00000161791 OTTHUMG00000169651 uc001ruw.2 AK128195 NM_175736 "CCDS44874|CCDS41780" Q8IVF7 12684686 MGI:109569 RGD:1583854 616288 HGNC:23698 "ENST00000335154.10|NM_175736.5" +HGNC:3769 FMO1 flavin containing dimethylaniline monoxygenase 1 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 flavin containing monooxygenase 1 Flavin containing monooxygenases 1667 1991-03-18 2019-04-25 2019-04-25 2326 ENSG00000010932 OTTHUMG00000035502 uc009wvz.4 M64082 NM_002021 "CCDS60351|CCDS1294" Q01740 MGI:1310002 RGD:2622 136130 1.14.13.8 HGNC:3769 "ENST00000617670.6|NM_001282693.2" +HGNC:3770 FMO2 flavin containing dimethylaniline monoxygenase 2 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 Dimethylaniline monooxygenase [N-oxide-forming] 2 "flavin containing monooxygenase 2 (non-functional)|flavin containing monooxygenase 2" Flavin containing monooxygenases 1667 1994-05-06 2019-04-25 2019-04-25 2327 ENSG00000094963 OTTHUMG00000035504 uc057ngi.1 BC005894 NM_001460 CCDS1293 Q99518 "1417778|9804831" MGI:1916776 RGD:628600 603955 HGNC:3770 "ENST00000209929.10|NM_001460.5" +HGNC:3771 FMO3 flavin containing dimethylaniline monoxygenase 3 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 FMOII Dimethylaniline monooxygenase [N-oxide-forming] 3 flavin containing monooxygenase 3 "Flavin containing monooxygenases|MicroRNA protein coding host genes" "1667|1691" 1992-10-16 2019-04-25 2021-05-26 2328 ENSG00000007933 OTTHUMG00000035505 uc001ghi.3 BC032016 NM_006894 CCDS1292 P31513 "8486388|9417913" MGI:1100496 RGD:619761 The Homo sapients FMO3 Allelic Variant Database|http://databases.lovd.nl/shared/genes/FMO3 136132 121876 1.14.13.148 HGNC:3771 "ENST00000367755.9|NM_001002294.3" HGNC:3771 +HGNC:3772 FMO4 flavin containing dimethylaniline monoxygenase 4 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 FMO2 flavin containing monooxygenase 4 Flavin containing monooxygenases 1667 1991-08-01 2019-04-25 2019-04-25 2329 ENSG00000076258 OTTHUMG00000035506 uc001gho.4 BC002780 NM_002022 CCDS1295 P31512 8311461 MGI:2429497 RGD:628601 136131 1.14.13.8 HGNC:3772 "ENST00000367749.4|NM_002022.3" +HGNC:3773 FMO5 flavin containing dimethylaniline monoxygenase 5 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 flavin containing monooxygenase 5 Flavin containing monooxygenases 1667 1994-05-05 2019-04-25 2019-04-25 2330 ENSG00000131781 OTTHUMG00000014607 uc001epi.4 Z47553 NM_001461 "CCDS44210|CCDS926|CCDS44209" P49326 "8786146|9119381|28783300" MGI:1310004 RGD:628602 603957 HGNC:3773 "ENST00000254090.9|NM_001461.4" +HGNC:24024 FMO6P flavin containing dimethylaniline monoxygenase 6, pseudogene pseudogene pseudogene Approved 1q24.3 01q24.3 FMO6 "flavin containing monooxygenase 6|flavin containing monooxygenase 6, pseudogene" Flavin containing monooxygenases 1667 2005-05-19 2006-12-04 2019-04-25 2019-04-25 388714 ENSG00000117507 OTTHUMG00000035503 AK130511 XM_371326 O60774 15077013 MGI:2681841 RGD:1559491 HGNC:24024 +HGNC:32208 FMO7P flavin containing dimethylaniline monoxygenase 7, pseudogene pseudogene pseudogene Approved 1q24.1 01q24.1 flavin containing monooxygenase 7, pseudogene Flavin containing monooxygenases 1667 2008-12-08 2019-04-25 2019-04-25 100337589 ENSG00000230231 OTTHUMG00000033266 NG_016467 15077013 HGNC:32208 +HGNC:32209 FMO8P flavin containing dimethylaniline monoxygenase 8, pseudogene pseudogene pseudogene Approved 1q24.1 01q24.1 flavin containing monooxygenase 8, pseudogene Flavin containing monooxygenases 1667 2008-12-08 2019-04-25 2019-04-25 100129007 ENSG00000238087 OTTHUMG00000033268 NG_009755 15077013 HGNC:32209 +HGNC:32210 FMO9P flavin containing dimethylaniline monoxygenase 9, pseudogene pseudogene pseudogene Approved 1q24.1 01q24.1 RP11-45J16.2 flavin containing monooxygenase 9, pseudogene Flavin containing monooxygenases 1667 2005-08-15 2019-04-25 2019-04-25 116123 ENSG00000215834 OTTHUMG00000078309 BC014341 NR_002925 15077013 HGNC:32210 +HGNC:32211 FMO10P flavin containing dimethylaniline monoxygenase 10, pseudogene pseudogene pseudogene Approved 1q24.1 01q24.1 flavin containing monooxygenase 10, pseudogene Flavin containing monooxygenases 1667 2008-12-08 2019-04-25 2019-04-25 100128181 ENSG00000234984 OTTHUMG00000034323 NG_009811 15077013 HGNC:32211 +HGNC:32212 FMO11P flavin containing dimethylaniline monoxygenase 11, pseudogene pseudogene pseudogene Approved 1q24.1 01q24.1 flavin containing monooxygenase 11, pseudogene Flavin containing monooxygenases 1667 2008-12-08 2019-04-25 2019-04-25 100337590 ENSG00000232148 OTTHUMG00000034317 NG_016468 15077013 HGNC:32212 +HGNC:3774 FMOD fibromodulin protein-coding gene gene with protein product Approved 1q32.1 01q32.1 SLRR2E fibromodulin proteoglycan Small leucine rich repeat proteoglycans 573 1994-04-15 2016-10-05 2331 ENSG00000122176 OTTHUMG00000035910 uc001gzr.5 U05291 NM_002023 CCDS30976 Q06828 7851907 MGI:1328364 RGD:619769 600245 HGNC:3774 "ENST00000354955.5|NM_002023.5" +HGNC:3775 FMR1 fragile X messenger ribonucleoprotein 1 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "FMRP|FRAXA|MGC87458" "POF1|POF" "premature ovarian failure 1|fragile X mental retardation 1|FMRP translational regulator 1" 1992-01-17 2022-04-01 2022-04-01 2332 ENSG00000102081 OTTHUMG00000022606 uc010nst.4 X69962 NM_002024 "CCDS76039|CCDS14682|CCDS55518|CCDS55519" Q06787 1572655 MGI:95564 RGD:2623 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FMR1|LRG_762|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_762.xml" 309550 121878 HGNC:3775 "ENST00000370475.9|NM_002024.6" HGNC:3775 +HGNC:39081 FMR1-AS1 FMR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq27.3 Xq27.3 "ASFMR1|FMR4" "antisense fragile X messenger ribonucleoprotein 1|antisense fragile X mental retardation protein" "FMR1AS|FMR1-AS" "FMR1 antisense RNA (non-protein coding)|FMR1 antisense RNA 1 (non-protein coding)|FMR1 antisense RNA 1 (head to head)" Antisense RNAs 1987 2010-10-05 2010-11-25 2018-03-23 2022-04-01 100126270 ENSG00000268066 OTTHUMG00000182466 uc065blh.1 NR_024499 "17921506|18213394" 300805 FMR1-AS1 HGNC:39081 +HGNC:41333 FMR1-IT1 FMR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xq27.3 Xq27.3 FMR1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 106478973 ENSG00000236337 OTTHUMG00000046184 uc065bma.1 FMR1-IT1 +HGNC:26372 FMR1NB FMR1 neighbor protein-coding gene gene with protein product Approved Xq27.3-q28 Xq27.3-q28 "FLJ25736|NY-SAR-35|CT37" cancer/testis antigen 37 fragile X mental retardation 1 neighbor 2004-02-11 2017-02-22 2020-04-02 158521 ENSG00000176988 OTTHUMG00000022608 uc004fcm.3 NM_152578 CCDS14683 Q8N0W7 12601173 MGI:2672032 RGD:1564059 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FMR1NB HGNC:26372 "ENST00000370467.8|NM_152578.3" +HGNC:3778 FN1 fibronectin 1 protein-coding gene gene with protein product Approved 2q35 02q35 "MSF|CIG|LETS|GFND2|FINC" "migration-stimulating factor|cold-insoluble globulin" "Receptor ligands|Fibronectin type III domain containing" "542|555" 2001-06-22 2021-05-26 2335 ENSG00000115414 OTTHUMG00000133054 uc002vfa.4 NM_212476 "CCDS42813|CCDS2400|CCDS46510|CCDS2399|CCDS77523|CCDS46512|CCDS42814|CCDS77522|CCDS77526|CCDS77525" P02751 "2992939|3003095" MGI:95566 RGD:2624 135600 159592 ligandId:6754 HGNC:3778 "ENST00000354785.11|NM_212482.4" HGNC:3778 +HGNC:55775 FN1-DT FN1 divergent transcript non-coding RNA RNA, long non-coding Approved 2q35 02q35 Divergent transcripts 1990 2021-07-22 2021-07-22 105373868 ENSG00000230695 XR_923862 +HGNC:24822 FN3K fructosamine 3 kinase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 2004-11-29 2016-10-05 64122 ENSG00000167363 OTTHUMG00000177847 uc010wvs.2 AJ404615 NM_022158 CCDS11818 Q9H479 "11522682|14641062" MGI:1926834 RGD:1559983 608425 HGNC:24822 "ENST00000300784.8|NM_022158.4" +HGNC:25700 FN3KRP fructosamine 3 kinase related protein protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ12171|FN3KL" 2009-01-14 2015-09-07 79672 ENSG00000141560 OTTHUMG00000177846 uc002kfu.4 AY360465 NM_024619 CCDS11817 Q9HA64 14633848 MGI:2679256 RGD:1304570 611683 HGNC:25700 "ENST00000269373.11|NM_024619.4" +HGNC:17069 FNBP1 formin binding protein 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "FBP17|KIAA0554" F-BAR domain containing 1288 2002-11-25 2016-10-05 23048 ENSG00000187239 OTTHUMG00000020800 uc004byw.2 AB011126 NM_001363755 "CCDS87699|CCDS48040" Q96RU3 "9628581|11438682" MGI:109606 RGD:621350 606191 HGNC:17069 "ENST00000446176.7|NM_015033.3" +HGNC:20851 FNBP1L formin binding protein 1 like protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "TOCA1|FLJ20275" C1orf39 "chromosome 1 open reading frame 39|formin binding protein 1-like" F-BAR domain containing 1288 2003-05-08 2004-11-17 2016-01-21 2016-01-21 54874 ENSG00000137942 OTTHUMG00000010863 uc010otk.3 NM_017737 "CCDS60192|CCDS53343|CCDS53344" Q5T0N5 14654988 MGI:1925642 RGD:1305386 608848 HGNC:20851 "ENST00000271234.13|NM_001164473.3" +HGNC:44528 FNBP1P1 formin binding protein 1 pseudogene 1 pseudogene pseudogene Approved 2p13.1 02p13.1 2012-11-14 2012-11-14 100533642 ENSG00000257800 OTTHUMG00000170236 NG_028779 PGOHUM00000240689 HGNC:44528 +HGNC:44527 FNBP1P2 formin binding protein 1 pseudogene 2 pseudogene pseudogene Approved 3p23 03p23 2012-11-14 2016-10-05 100419875 NG_025560 PGOHUM00000298981 HGNC:44527 +HGNC:19752 FNBP4 formin binding protein 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 KIAA1014 2002-11-25 2016-10-05 23360 ENSG00000109920 OTTHUMG00000166533 uc009ylv.4 BC037404 NM_001318339 CCDS41644 Q8N3X1 10231032 MGI:1860513 RGD:1309238 615265 HGNC:19752 "ENST00000263773.10|NM_015308.5" +HGNC:21184 FNDC1 fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "bA243O10.1|KIAA1866|dJ322A24.1" FNDC2 fibronectin type III domain containing 2 Fibronectin type III domain containing 555 2003-05-22 2016-10-05 84624 ENSG00000164694 OTTHUMG00000015927 uc010kjv.4 AB058769 NM_032532 CCDS47512 Q4ZHG4 11347906 MGI:1915905 RGD:1310640 609991 HGNC:21184 "ENST00000297267.14|NM_032532.3" +HGNC:55706 FNDC1-AS1 FNDC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 Antisense RNAs 1987 2021-07-05 2021-07-05 101929122 ENSG00000233682 NR_121668 +HGNC:41460 FNDC1-IT1 FNDC1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 FNDC1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874312 ENSG00000235086 OTTHUMG00000015929 uc063sou.1 NR_046831 FNDC1-IT1 +HGNC:20296 FNDC3A fibronectin type III domain containing 3A protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "bA203I16.5|KIAA0970" FNDC3 fibronectin type III domain containing 3 Fibronectin type III domain containing 555 2004-04-16 2005-01-22 2005-01-20 2016-10-05 22862 ENSG00000102531 OTTHUMG00000016911 uc001vcm.3 AB023187 NM_014923 "CCDS41886|CCDS9413" Q9Y2H6 MGI:1196463 RGD:1304736 615794 HGNC:20296 "ENST00000492622.6|NM_001079673.2" +HGNC:24670 FNDC3B fibronectin type III domain containing 3B protein-coding gene gene with protein product Approved 3q26.31 03q26.31 "FAD104|DKFZp762K137|FLJ23399|PRO4979|YVTM2421" Fibronectin type III domain containing 555 2005-01-20 2015-09-11 64778 ENSG00000075420 OTTHUMG00000156761 uc003fhz.5 AF543840 NM_022763 CCDS3217 Q53EP0 15527760 MGI:1919257 RGD:1311673 611909 HGNC:24670 "ENST00000415807.7|NM_022763.4" +HGNC:35452 FNDC3CP fibronectin type III domain containing 3C, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 2010-03-12 2014-11-19 100421340 ENSG00000223592 OTTHUMG00000021886 NG_026723 HGNC:35452 +HGNC:20239 FNDC4 fibronectin type III domain containing 4 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ22362|FRCP1" Fibronectin type III domain containing 555 2004-01-13 2015-09-11 64838 ENSG00000115226 OTTHUMG00000097787 uc002rkx.4 AK026015 NM_022823 CCDS1756 Q9H6D8 12384288 MGI:1917195 611905 HGNC:20239 "ENST00000264703.4|NM_022823.3" +HGNC:20240 FNDC5 fibronectin type III domain containing 5 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 FRCP2 irisin Fibronectin type III domain containing 555 2004-01-13 2016-10-05 252995 ENSG00000160097 OTTHUMG00000004015 uc001bwf.3 AK092102 NM_153756 "CCDS65483|CCDS369" Q8NAU1 "12384288|22237023|24120943" MGI:1917614 RGD:708525 611906 HGNC:20240 "ENST00000373471.9|NM_153756.3" +HGNC:26668 FNDC7 fibronectin type III domain containing 7 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 FLJ35838 Fibronectin type III domain containing 555 2005-05-23 2014-11-19 163479 ENSG00000143107 OTTHUMG00000011120 uc001dvx.4 NM_173532 CCDS44185 Q5VTL7 12477932 MGI:2443535 RGD:1309189 HGNC:26668 "ENST00000370017.9|NM_001144937.3" +HGNC:25286 FNDC8 fibronectin type III domain containing 8 protein-coding gene gene with protein product Approved 17q12 17q12 DKFZp434H2215 Fibronectin type III domain containing 555 2006-01-12 2014-11-19 54752 ENSG00000073598 OTTHUMG00000132932 uc002hix.4 BC024002 NM_017559 CCDS11290 Q8TC99 12477932 MGI:1926169 RGD:1310708 HGNC:25286 "ENST00000158009.6|NM_017559.4" +HGNC:33547 FNDC9 fibronectin type III domain containing 9 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 MGC27121 C5orf40 chromosome 5 open reading frame 40 Fibronectin type III domain containing 555 2007-07-26 2011-01-25 2011-01-25 2014-11-19 408263 ENSG00000172568 OTTHUMG00000130248 uc003lwu.3 BC022570 NM_001001343 CCDS4337 Q8TBE3 MGI:2443410 RGD:2318580 HGNC:33547 "ENST00000312349.5|NM_001001343.4" +HGNC:42951 FNDC10 fibronectin type III domain containing 10 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 C1orf233 chromosome 1 open reading frame 233 2012-02-03 2016-06-07 2016-06-07 2016-06-07 643988 ENSG00000228594 OTTHUMG00000154864 uc021oes.2 NM_001242659 CCDS55559 F2Z333 MGI:2444790 RGD:1589420 HGNC:42951 "ENST00000422725.4|NM_001242659.2" +HGNC:28764 FNDC11 fibronectin type III domain containing 11 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 MGC5356 C20orf195 chromosome 20 open reading frame 195 2005-12-23 2016-06-07 2016-06-07 2016-06-07 79025 ENSG00000125531 OTTHUMG00000032980 uc002yfj.4 NM_024059 CCDS13526 Q9BVV2 12477932 MGI:3051572 RGD:1564340 HGNC:28764 "ENST00000370097.2|NM_001319152.2" +HGNC:29418 FNIP1 folliculin interacting protein 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 KIAA1961 DENN domain containing 504 2005-08-09 2021-05-26 96459 ENSG00000217128 OTTHUMG00000186338 uc003kvs.2 DQ145719 NM_133372 "CCDS34226|CCDS87320|CCDS34227|CCDS87321" Q8TF40 "11853319|17028174" MGI:2444668 RGD:2318339 610594 HGNC:29418 "ENST00000510461.6|NM_133372.3" +HGNC:29280 FNIP2 folliculin interacting protein 2 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "KIAA1450|FNIPL|MAPO1" O6-methylguanine-induced apoptosis 1 DENN domain containing 504 2008-03-06 2015-09-11 57600 ENSG00000052795 OTTHUMG00000161983 uc003iqe.5 AB040883 NM_020840 CCDS47155 Q9P278 18403135 MGI:2683054 RGD:1562174 612768 HGNC:29280 "ENST00000264433.11|NM_020840.3" +HGNC:3782 FNTA farnesyltransferase, CAAX box, alpha protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "FPTA|PGGT1A|PTAR2" "protein prenyltransferase alpha subunit repeat containing 2|protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha" Prenyltransferase alpha subunit repeat containing 687 1993-04-08 2016-01-27 2339 ENSG00000168522 OTTHUMG00000165279 uc003xps.5 L10413 NM_002027 CCDS6140 P49354 8276393 MGI:104683 RGD:2625 134635 objectId:2825 HGNC:3782 "ENST00000302279.8|NM_002027.3" +HGNC:3783 FNTAP1 farnesyltransferase, CAAX box, alpha pseudogene 1 pseudogene pseudogene Approved 11q14.2 11q14.2 FNTAL1 farnesyltransferase, CAAX box, alpha-like 1 1993-10-27 2010-10-13 2010-10-13 2020-04-07 283226 ENSG00000254502 OTTHUMG00000167208 NG_005139 8276393 PGOHUM00000242832 HGNC:3783 +HGNC:3784 FNTAP2 farnesyltransferase, CAAX box, alpha pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 FNTAL2 farnesyltransferase, CAAX box, alpha-like 2 1993-10-27 2010-10-13 2010-10-13 2014-11-19 2341 ENSG00000230022 OTTHUMG00000016545 NG_005138 8276393 HGNC:3784 +HGNC:3785 FNTB farnesyltransferase, CAAX box, beta protein-coding gene gene with protein product Approved 14q23.3 14q23.3 FPTB 1993-04-08 2015-08-25 2342 ENSG00000257365 OTTHUMG00000142811 uc001xia.4 NM_002028 CCDS9769 P49356 8276393 MGI:1861305 RGD:620119 134636 objectId:2826 HGNC:3785 "ENST00000246166.3|NM_002028.4" +HGNC:23377 FOCAD focadhesin protein-coding gene gene with protein product Approved 9p21.3 09p21.3 FLJ20375 KIAA1797 KIAA1797 "Armadillo like helical domain containing|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1492|1691|1835" 2003-11-21 2012-03-23 2012-03-23 2021-11-18 54914 ENSG00000188352 OTTHUMG00000066930 uc003zog.2 AB058700 NM_017794 CCDS34993 Q5VW36 22427331 MGI:2676921 RGD:1311849 614606 HGNC:23377 "ENST00000338382.11|NM_001375567.1" +HGNC:49789 FOCAD-AS1 FOCAD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p21.3 09p21.3 Antisense RNAs 1987 2014-02-14 2014-02-14 101929548 ENSG00000227071 OTTHUMG00000019649 "AI288976|AW363020" NR_121601 FOCAD-AS1 HGNC:49789 +HGNC:3788 FOLH1 folate hydrolase 1 protein-coding gene gene with protein product Approved 11p11.12 11p11.12 "PSM|PSMA|NAALAD1|NAALAdase|GCP2|GCPII" "glutamate carboxylase II|glutamate carboxypeptidase 2" FOLH folate hydrolase (prostate-specific membrane antigen) 1 M28 metallopeptidases 1444 1996-12-16 2016-06-21 2016-10-05 2346 ENSG00000086205 OTTHUMG00000166625 uc001ngy.3 M99487 NM_004476 "CCDS31493|CCDS7946|CCDS53627|CCDS53628" Q04609 9838072 MGI:1858193 RGD:70963 600934 M28.010 objectId:1606 3.4.17.21 HGNC:3788 "ENST00000256999.7|NM_004476.3" +HGNC:13636 FOLH1B folate hydrolase 1B other unknown Approved 11q14.3 11q14.3 PSMAL "prostate specific membrane antigen like protein|Cell growth-inhibiting gene 26 protein" "FOLH2|FOLHP" folate hydrolase 2 M28 metallopeptidases 1444 2009-04-21 2019-06-20 219595 ENSG00000134612 OTTHUMG00000167376 AF261715 NM_153696 Q9HBA9 "9838072|14716746" MGI:1858193 609020 PGOHUM00000258599 objectId:1607 HGNC:13636 +HGNC:3791 FOLR1 folate receptor alpha protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FRα FOLR "folate receptor 1 (adult)|folate receptor 1" 1991-08-08 2019-05-08 2021-05-26 2348 ENSG00000110195 OTTHUMG00000167876 uc001osa.3 J05013 NM_016725 CCDS8211 P15328 1717147 MGI:95568 RGD:71032 136430 220919 HGNC:3791 "ENST00000393676.5|NM_016729.3" HGNC:3791 +HGNC:3792 FOLR1P1 folate receptor 1 pseudogene 1 pseudogene pseudogene Approved 11q13.4 11q13.4 FOLR1P "folate receptor 1 (adult) pseudogene|folate receptor 1 (adult) pseudogene 1" 1992-04-16 2010-03-12 2016-06-27 2020-04-07 390221 ENSG00000256518 OTTHUMG00000167873 M86438 NG_005088 "1581364|1330883" PGOHUM00000242789 HGNC:3792 +HGNC:3793 FOLR2 folate receptor beta protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FRβ folate receptor 2 (fetal) 1992-04-16 2016-04-26 2019-05-08 2350 ENSG00000165457 OTTHUMG00000150394 uc001ose.5 AK222539 NM_000803 CCDS8212 P14207 "7698003|8110752" MGI:95569 RGD:1308515 136425 HGNC:3793 "ENST00000298223.11|NM_000803.5" +HGNC:3795 FOLR3 folate receptor gamma protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FR-G|FRγ" "folate receptor 3 (gamma)|folate receptor 3" 1997-09-05 2019-05-08 2019-05-08 2352 ENSG00000110203 OTTHUMG00000167870 uc031xur.2 U08471 NM_000804 CCDS73344 P41439 8110752 MGI:95569 602469 HGNC:3795 "ENST00000611028.3|NM_000804.4" +HGNC:38074 FOLR3P1 folate receptor 3 pseudogene 1 pseudogene pseudogene Approved 11q13.4 11q13.4 folate receptor 3 (gamma) pseudogene 1 2010-04-09 2016-06-27 2016-06-27 100288543 NG_022959 PGOHUM00000242790 HGNC:38074 +HGNC:3796 FOS Fos proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "c-fos|AP-1" "v-fos FBJ murine osteosarcoma viral oncogene homolog|FBJ murine osteosarcoma viral oncogene homolog" "Basic leucine zipper proteins|Fos transcription factor family" "506|1256" 2001-06-22 2016-05-27 2020-01-06 2353 ENSG00000170345 OTTHUMG00000171774 uc001xrn.4 K00650 NM_005252 CCDS9841 P01100 "16123044|16055710|15926923" MGI:95574 RGD:2626 164810 364789 HGNC:3796 "ENST00000303562.9|NM_005252.4" HGNC:3796 +HGNC:3797 FOSB FosB proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "G0S3|GOSB|GOS3|AP-1|MGC42291|DKFZp686C0818" "oncogene FOS-B|activator protein 1" FBJ murine osteosarcoma viral oncogene homolog B "Basic leucine zipper proteins|Fos transcription factor family" "506|1256" 1992-09-18 2016-05-27 2016-10-05 2354 ENSG00000125740 OTTHUMG00000182122 uc002pbx.5 NM_006732 "CCDS12664|CCDS46113" P53539 1301997 MGI:95575 RGD:1308198 164772 HGNC:3797 "ENST00000353609.8|NM_006732.3" +HGNC:13718 FOSL1 FOS like 1, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 fra-1 FOS like antigen 1 "Basic leucine zipper proteins|Fos transcription factor family" "506|1256" 2000-12-04 2016-05-27 2016-10-05 8061 ENSG00000175592 OTTHUMG00000166715 uc001ogg.2 BC016648 NM_005438 "CCDS73324|CCDS76436|CCDS76437|CCDS8121" P15407 2107490 MGI:107179 RGD:2627 136515 HGNC:13718 "ENST00000312562.7|NM_005438.5" +HGNC:44055 FOSL1P1 FOSL1 pseudogene 1 pseudogene pseudogene Approved 4q28.2 04q28.2 "FOS like antigen 1 pseudogene 1|FOS like 1, AP-1 transcription factor subunit pseudogene 1" 2012-05-30 2019-01-21 2019-01-21 100419062 ENSG00000248394 OTTHUMG00000161163 NG_025252 PGOHUM00000246070 HGNC:44055 +HGNC:3798 FOSL2 FOS like 2, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "FRA2|FLJ23306" FOS like antigen 2 "Basic leucine zipper proteins|Fos transcription factor family" "506|1256" 1996-10-02 2016-05-27 2016-10-05 2355 ENSG00000075426 OTTHUMG00000097832 uc002rma.4 NM_005253 CCDS1766 P15408 MGI:102858 RGD:2628 601575 HGNC:3798 "ENST00000264716.9|NM_005253.4" +HGNC:55784 FOSL2-AS1 FOSL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.2 02p23.2 Antisense RNAs 1987 2021-07-28 2021-07-28 403150 ENSG00000229951 NR_103831 +HGNC:5021 FOXA1 forkhead box A1 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 HNF3A hepatocyte nuclear factor 3, alpha Forkhead boxes 508 1998-02-11 2002-09-20 2021-05-26 3169 ENSG00000129514 OTTHUMG00000140253 uc001wuf.5 U39840 NM_004496 CCDS9665 P55317 "9119385|8652662" MGI:1347472 RGD:2807 LRG_1415|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1415.xml FOXA1 602294 470346 HGNC:5021 "ENST00000250448.5|NM_004496.5" +HGNC:5022 FOXA2 forkhead box A2 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 HNF3B hepatocyte nuclear factor 3, beta Forkhead boxes 508 1998-02-11 2002-09-20 2021-05-26 3170 ENSG00000125798 OTTHUMG00000191876 uc002wsn.4 AF147787 NM_021784 "CCDS46585|CCDS13147" Q9Y261 "9119385|11875061" MGI:1347476 RGD:2808 600288 470348 HGNC:5022 "ENST00000419308.7|NM_021784.5" HGNC:5022 +HGNC:5023 FOXA3 forkhead box A3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 HNF3G hepatocyte nuclear factor 3, gamma Forkhead boxes 508 1998-02-11 2002-09-20 2014-11-19 3171 ENSG00000170608 OTTHUMG00000182484 uc002pdr.3 L12141 NM_004497 CCDS12677 P55318 9119385 MGI:1347477 RGD:2809 602295 470350 HGNC:5023 "ENST00000302177.3|NM_004497.3" +HGNC:3799 FOXB1 forkhead box B1 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "HFKH-5|FKH5" Forkhead boxes 508 1999-12-22 2015-08-25 27023 ENSG00000171956 OTTHUMG00000172011 uc002agj.2 AF055080 NM_012182 CCDS32255 Q99853 MGI:1927549 RGD:1305217 HGNC:3799 "ENST00000396057.6|NM_012182.3" +HGNC:23315 FOXB2 forkhead box B2 protein-coding gene gene with protein product Approved 9q21.2 09q21.2 bA159H20.4 Forkhead boxes 508 2006-07-04 2014-11-19 442425 ENSG00000204612 OTTHUMG00000020051 uc004ako.1 NM_001013735 CCDS35045 Q5VYV0 MGI:1347468 RGD:1585019 HGNC:23315 "ENST00000376708.1|NM_001013735.1" +HGNC:3800 FOXC1 forkhead box C1 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 "FREAC3|ARA|IGDA|IHG1" "FKHL7|IRID1" Forkhead boxes 508 1995-06-05 2021-05-26 2296 ENSG00000054598 OTTHUMG00000016182 uc003mtp.4 AF048693 NM_001453 CCDS4473 Q12948 "7957066|9620769" MGI:1347466 RGD:1589718 LRG_1245|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1245.xml 601090 121883 HGNC:3800 "ENST00000645831.2|NM_001453.3" HGNC:3800 +HGNC:3801 FOXC2 forkhead box C2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 MFH-1 mesenchyme forkhead 1 FKHL14 forkhead box C2 (MFH-1, mesenchyme forkhead 1) Forkhead boxes 508 1997-02-14 2014-12-17 2021-05-26 2303 ENSG00000176692 OTTHUMG00000137652 uc002fjq.4 Y08223 NM_005251 CCDS10958 Q99958 "9169153|8674414" MGI:1347481 RGD:621703 LRG_1292|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1292.xml 602402 121891 HGNC:3801 "ENST00000649859.1|NM_005251.3" HGNC:3801 +HGNC:50665 FOXC2-AS1 FOXC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 ODRUL osteosarcoma doxorubicin-resistance related upregulated lncRNA Antisense RNAs 1987 2014-06-05 2018-07-05 103752587 ENSG00000260944 OTTHUMG00000176481 AW271272 NR_125795 "26408180|28750740|29562954" FOXC2-AS1 HGNC:50665 +HGNC:50650 FOXCUT FOXC1 upstream transcript non-coding RNA RNA, long non-coding Approved 6p25.3 06p25.3 TCONS_00011636 FOXC1 promoter upstream transcript LINC01379 "long intergenic non-protein coding RNA 1379|FOXC1 upstream transcript (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2014-06-01 2014-06-09 2018-05-16 2018-05-16 101927703 ENSG00000280916 OTTHUMG00000189532 AW002296 NR_125804 "24889262|25031703" 615976 foxcut HGNC:50650 +HGNC:3802 FOXD1 forkhead box D1 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 FREAC4 FKHL8 Forkhead boxes 508 1995-06-05 2015-09-07 2297 ENSG00000251493 OTTHUMG00000162495 uc032uyj.2 U59831 NM_004472 CCDS75259 Q16676 "7957066|8825632" MGI:1347463 RGD:621712 601091 HGNC:3802 "ENST00000615637.3|NM_004472.3" +HGNC:50658 FOXD1-AS1 FOXD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 TCONS_00009423 Antisense RNAs 1987 2014-06-04 2014-06-04 106144539 ENSG00000247993 OTTHUMG00000160932 AA769738 FOXD1-AS1 +HGNC:3803 FOXD2 forkhead box D2 protein-coding gene gene with protein product Approved 1p33 01p33 FREAC9 FKHL17 Forkhead boxes 508 1997-08-18 2016-10-05 2306 ENSG00000186564 OTTHUMG00000007950 uc001crm.3 AF042832 NM_004474 CCDS30708 O60548 "9403061|12621056" MGI:1347471 RGD:1304642 602211 HGNC:3803 "ENST00000334793.6|NM_004474.4" +HGNC:44256 FOXD2-AS1 FOXD2 adjacent opposite strand RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 MGC12982 "FOXD2 antisense RNA 1 (non-protein coding)|FOXD2 antisense RNA 1|FOXD2 antisense RNA 1 (head to head)" 2012-07-25 2017-09-21 2017-09-21 84793 ENSG00000237424 OTTHUMG00000007949 uc001crl.4 BC006113 NR_026878 "28132805|28925486" FOXD2-AS1 HGNC:44256 +HGNC:3804 FOXD3 forkhead box D3 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "Genesis|HFH2" Forkhead boxes 508 1999-12-22 2021-05-26 27022 ENSG00000187140 OTTHUMG00000009141 uc001dax.3 AF197560 NM_012183 CCDS624 Q9UJU5 8499623 MGI:1347473 RGD:621715 611539 265161 HGNC:3804 "ENST00000371116.4|NM_012183.3" +HGNC:40241 FOXD3-AS1 FOXD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 "pasFOXD3|FAST" "FOXD3 promoter-associated antisense long non-coding RNA|FOXD3 antisense transcript 1'" FOXD3 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-06-04 2018-03-23 2021-11-17 100996301 ENSG00000230798 OTTHUMG00000009138 KJ493778 NR_121634 "27829996|28655711|32259487" FOXD3-AS1 HGNC:40241 +HGNC:3805 FOXD4 forkhead box D4 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "FREAC5|FOXD4a" FKHL9 Forkhead boxes 508 1995-06-05 2021-05-26 2298 ENSG00000170122 OTTHUMG00000021015 uc003zfz.5 U13223 NM_207305 CCDS34975 Q12950 "7957066|8825632|12234674" MGI:1347467 RGD:621716 LRG_452|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_452.xml 601092 HGNC:3805 "ENST00000382500.4|NM_207305.5" +HGNC:18521 FOXD4L1 forkhead box D4 like 1 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 FOXD5 Forkhead boxes 508 2003-11-26 2017-06-13 2017-06-13 200350 ENSG00000184492 OTTHUMG00000131359 uc002tjw.5 AF452723 NM_012184 CCDS2117 Q9NU39 "12421752|15233989" MGI:1347467 611084 HGNC:18521 +HGNC:18523 FOXD4L3 forkhead box D4 like 3 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "OTTHUMG00000019959|FOXD6" Forkhead boxes 508 2003-11-26 2017-06-13 2017-06-13 286380 ENSG00000187559 OTTHUMG00000019959 uc004agm.2 AY344642 NM_199358 CCDS43833 Q6VB84 12421752 MGI:1347467 611086 HGNC:18523 "ENST00000342833.4|NM_199135.4" +HGNC:23762 FOXD4L4 forkhead box D4 like 4 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "bA460E7.2|OTTHUMG00000013337|OTTHUMG00000066752" FOXD4L2 forkhead box D4-like 2 Forkhead boxes 508 2005-04-01 2017-06-13 2017-06-13 349334 ENSG00000184659 OTTHUMG00000013337 uc004afx.2 NM_199244 CCDS75845 Q8WXT5 MGI:1347467 611085 HGNC:23762 +HGNC:18522 FOXD4L5 forkhead box D4 like 5 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "bA15J10.2|OTTHUMG00000013332" Forkhead boxes 508 2007-03-20 2017-06-13 2017-06-13 653427 ENSG00000204779 OTTHUMG00000013332 uc010moc.3 NM_001126334 CCDS47977 Q5VV16 12234674 MGI:1347467 HGNC:18522 "ENST00000377420.1|NM_001126334.1" +HGNC:31986 FOXD4L6 forkhead box D4 like 6 protein-coding gene gene with protein product Approved 9p11.2 09p11.2 OTTHUMG00000066822 Forkhead boxes 508 2007-03-19 2017-06-13 2017-06-13 653404 ENSG00000273514 OTTHUMG00000188618 uc004afi.3 NM_001085476 CCDS43826 Q3SYB3 MGI:1347467 HGNC:31986 "ENST00000622588.2|NM_001085476.4" +HGNC:3806 FOXE1 forkhead box E1 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "TTF-2|HFKH4" thyroid transcription factor 2 "FKHL15|TITF2|FOXE2" "forkhead box E2|forkhead box E1 (thyroid transcription factor 2)" Forkhead boxes 508 1997-02-14 2014-12-17 2021-05-26 2304 ENSG00000178919 OTTHUMG00000020333 uc004axu.4 U89995 NM_004473 CCDS35078 O00358 "9169137|9697705" MGI:1353500 RGD:621723 602617 121895 HGNC:3806 "ENST00000375123.5|NM_004473.4" HGNC:3806 +HGNC:3808 FOXE3 forkhead box E3 protein-coding gene gene with protein product Approved 1p33 01p33 FREAC8 FKHL12 Forkhead boxes 508 1995-06-05 2021-05-26 2301 ENSG00000186790 OTTHUMG00000007954 uc001crk.3 AF275722 NM_012186 CCDS550 Q13461 8825632 MGI:1353569 RGD:621727 601094 121900 HGNC:3808 "ENST00000335071.4|NM_012186.3" HGNC:3808 +HGNC:3809 FOXF1 forkhead box F1 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FREAC1 FKHL5 Forkhead boxes 508 1995-06-05 2021-05-26 2294 ENSG00000103241 OTTHUMG00000137651 uc002fjl.4 U13219 NM_001451 CCDS10957 Q12946 "8825632|7957066" MGI:1347470 RGD:1584229 601089 212909 HGNC:3809 "ENST00000262426.6|NM_001451.3" HGNC:3809 +HGNC:3810 FOXF2 forkhead box F2 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 FREAC2 FKHL6 Forkhead boxes 508 1995-06-05 2021-05-26 2295 ENSG00000137273 OTTHUMG00000016243 uc003mtm.3 U13220 NM_001452 CCDS4472 Q12947 "9799607|7957066" MGI:1347479 RGD:1589717 LRG_1190|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1190.xml 603250 HGNC:3810 "ENST00000645481.2|NM_001452.2" +HGNC:50662 FOXF2-DT FOXF2 divergent transcript non-coding RNA RNA, long non-coding Approved 6p25.3 06p25.3 Divergent transcripts 1990 2020-11-05 2020-11-05 105374880 ENSG00000261730 +HGNC:3811 FOXG1 forkhead box G1 protein-coding gene gene with protein product Approved 14q12 14q12 "HFK2|QIN|BF1|HFK1|HFK3|HBF-3" brain factor 1 "FKHL2|FOXG1B|FKHL4|FKH2|FKHL1|FOXG1C|FKHL3|FOXG1A" "forkhead box G1B|forkhead box G1C|forkhead box G1A" Forkhead boxes 508 1994-12-07 2007-05-16 2007-05-16 2021-05-26 2290 ENSG00000176165 OTTHUMG00000140187 uc001wqe.5 NM_005249 CCDS9636 P55316 "7959731|17260156" MGI:1347464 RGD:2619 164874 167854 HGNC:3811 "ENST00000313071.7|NM_005249.5" HGNC:3811 +HGNC:50663 FOXG1-AS1 FOXG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q12 14q12 FOXG1-AS FOXG1 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-06-04 2018-03-23 2018-03-23 103695363 ENSG00000257126 OTTHUMG00000170343 DA239559 NR_125758 24007600 FOXG1-AS1 HGNC:50663 +HGNC:3814 FOXH1 forkhead box H1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FAST1 forkhead activin signal transducer-1 Forkhead boxes 508 1999-12-22 2021-09-14 8928 ENSG00000160973 OTTHUMG00000165172 uc003zdc.4 AF076292 NM_003923 CCDS6428 O75593 9702198 MGI:1347465 RGD:1311275 603621 159600 HGNC:3814 "ENST00000377317.5|NM_003923.3" HGNC:3814 +HGNC:3815 FOXI1 forkhead box I1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 FREAC6 FKHL10 Forkhead boxes 508 1995-06-05 2021-05-26 2299 ENSG00000168269 OTTHUMG00000130436 uc003mai.5 BC029778 "NM_144769|NM_012188" "CCDS4372|CCDS47337" Q12951 "7957066|8825632" MGI:1096329 RGD:1307421 601093 231422 HGNC:3815 "ENST00000306268.8|NM_012188.5" HGNC:3815 +HGNC:32448 FOXI2 forkhead box I2 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 FLJ46831 Forkhead boxes 508 2007-05-02 2014-11-19 399823 ENSG00000186766 OTTHUMG00000019250 uc009yas.3 AK128865 NM_207426 CCDS7655 Q6ZQN5 MGI:3028075 RGD:621739 617202 HGNC:32448 "ENST00000388920.5|NM_207426.3" +HGNC:35123 FOXI3 forkhead box I3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 Forkhead boxes 508 2008-12-18 2016-10-24 344167 ENSG00000214336 OTTHUMG00000155048 uc032nud.2 "BN001221|BN001222" NM_001135649 CCDS77433 A8MTJ6 18787161 MGI:3511278 RGD:1561816 612351 HGNC:35123 "ENST00000428390.3|NM_001135649.3" +HGNC:3816 FOXJ1 forkhead box J1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HFH-4|HFH4" FKHL13 Forkhead boxes 508 1996-11-13 2021-05-26 2302 ENSG00000129654 OTTHUMG00000180120 uc002jqx.4 X99349 NM_001454 CCDS32739 Q92949 "9073514|16518568" MGI:1347474 RGD:621764 602291 HGNC:3816 "ENST00000322957.7|NM_001454.4" HGNC:3816 +HGNC:24818 FOXJ2 forkhead box J2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 FHX Forkhead boxes 508 2004-03-23 2019-08-20 55810 ENSG00000065970 OTTHUMG00000168526 uc001qtu.4 AF155132 NM_018416 CCDS8587 Q9P0K8 "10777590|10966786" MGI:1926805 RGD:1565101 619162 HGNC:24818 "ENST00000162391.8|NM_018416.3" +HGNC:29178 FOXJ3 forkhead box J3 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 KIAA1041 Forkhead boxes 508 2004-03-22 2014-11-18 22887 ENSG00000198815 OTTHUMG00000007026 uc001chg.3 AB028964 NM_014947 "CCDS30689|CCDS55594" Q9UPW0 MGI:2443432 RGD:1311770 616035 HGNC:29178 "ENST00000361346.6|NM_014947.5" +HGNC:23480 FOXK1 forkhead box K1 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 IMAGE:5164497 Forkhead boxes 508 2004-03-09 2016-10-05 221937 ENSG00000164916 OTTHUMG00000151739 uc003snc.2 BK004104 NM_001037165 CCDS34591 P85037 15202027 MGI:1347488 RGD:1309643 616302 HGNC:23480 "ENST00000328914.5|NM_001037165.2" +HGNC:6036 FOXK2 forkhead box K2 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "ILF|ILF1" interleukin enhancer binding factor 1 Forkhead boxes 508 1992-02-13 2004-03-10 2004-03-09 2020-06-09 3607 ENSG00000141568 OTTHUMG00000140374 uc002kfn.4 U58196 NM_004514 CCDS11813 Q01167 3260003 MGI:1916087 RGD:1305408 147685 HGNC:6036 "ENST00000335255.10|NM_004514.4" +HGNC:3817 FOXL1 forkhead box L1 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "FREAC7|FKH6" FKHL11 Forkhead boxes 508 1995-06-05 2021-04-13 2300 ENSG00000176678 OTTHUMG00000137653 uc002fjr.4 AF315075 NM_005250 CCDS10959 Q12952 7957066 MGI:1347469 RGD:1584212 LRG_709|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_709.xml 603252 HGNC:3817 "ENST00000320241.5|NM_005250.3" +HGNC:1092 FOXL2 forkhead box L2 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 BPES1 BPES Forkhead boxes 508 1992-02-28 2021-05-26 668 ENSG00000183770 OTTHUMG00000159889 uc003esw.3 AF301906 NM_023067 CCDS3105 P58012 1941972 MGI:1349428 RGD:1310041 "LOVD - Center for Medical Genetics, Ghent, Belgium|http://medgen.ugent.be/LOVD2/home.php?select_db=FOXL2|LRG_1295|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1295.xml" FOXL2 605597 121904 HGNC:1092 "ENST00000648323.1|NM_023067.4" HGNC:1092 +HGNC:34428 FOXL2NB FOXL2 neighbor protein-coding gene gene with protein product Approved 3q22.3 03q22.3 FLJ43329 C3orf72 chromosome 3 open reading frame 72 2008-07-11 2014-05-22 2014-05-22 2014-11-19 401089 ENSG00000206262 OTTHUMG00000159886 AK125319 NM_001040061 CCDS43155 Q6ZUU3 HGNC:34428 "ENST00000383165.4|NM_001040061.3" +HGNC:54201 FOXL3 forkhead box L3 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 2019-10-31 2020-01-21 116033993 ENSG00000248767 NM_001374838 A0A1W2PRP0 MGI:3646467 "ENST00000506382.2|NM_001374838.1" +HGNC:54640 FOXL3-OT1 FOXL3 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Overlapping transcripts 1988 2019-10-31 2019-10-31 100288524 NR_164665 RGD:1594158 +HGNC:3818 FOXM1 forkhead box M1 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "HFH-11|trident|HNF-3|INS-1|MPP2|MPHOSPH2|TGT3" M-phase phosphoprotein 2 FKHL16 Forkhead boxes 508 1997-07-25 2016-10-05 2305 ENSG00000111206 OTTHUMG00000168118 uc001qlf.4 Y12773 NM_021953 "CCDS8516|CCDS76506|CCDS8515|CCDS8517" Q08050 "9032290|9441747" MGI:1347487 RGD:61807 602341 HGNC:3818 "ENST00000359843.8|NM_021953.4" +HGNC:12765 FOXN1 forkhead box N1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FKHL20 "WHN|RONU" "winged-helix nude|Rowett nude" Forkhead boxes 508 1998-10-07 2003-06-13 2003-06-12 2021-05-26 8456 ENSG00000109101 OTTHUMG00000132603 uc010crm.4 Y11739 NM_001369369 CCDS11232 O15353 9321431 MGI:102949 RGD:3970 "FOXN1base: Mutation registry for T-cell immunodeficiency, congenital alopecia, and nail dystrophy (Previously known as WHNbase)|http://structure.bmc.lu.se/idbase/FOXN1base/|LRG_61|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_61.xml" 600838 183879 objectId:2958 HGNC:12765 "ENST00000579795.6|NM_001369369.1" HGNC:12765 +HGNC:5281 FOXN2 forkhead box N2 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 HTLF human T-cell leukemia virus enhancer factor Forkhead boxes 508 1992-02-13 2006-10-02 2006-10-02 2016-10-05 3344 ENSG00000170802 OTTHUMG00000129168 uc002rwh.2 NM_002158 CCDS1838 P32314 1639393 MGI:1347478 RGD:1562291 143089 HGNC:5281 "ENST00000340553.8|NM_002158.4" +HGNC:1928 FOXN3 forkhead box N3 protein-coding gene gene with protein product Approved 14q31.3-q32.11 14q31.3-q32.11 "C14orf116|CHES1" "chromosome 14 open reading frame 116|checkpoint suppressor 1" Forkhead boxes 508 1997-10-16 2007-05-02 2007-05-02 2018-02-13 1112 ENSG00000053254 OTTHUMG00000170898 uc010atk.4 NM_005197 "CCDS32138|CCDS41977" O00409 9154802 MGI:1918625 RGD:1305711 602628 HGNC:1928 "ENST00000557258.6|NM_005197.4" +HGNC:44290 FOXN3-AS1 FOXN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 FOXN3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-08 2012-08-15 2012-10-12 400236 ENSG00000258920 OTTHUMG00000170973 uc001xxq.3 BC067103 NR_036500 FOXN3-AS1 HGNC:44290 +HGNC:30119 FOXN3-AS2 FOXN3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 PRO1768 FOXN3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-08-08 2012-08-15 2012-10-12 29018 ENSG00000259073 OTTHUMG00000170974 uc001xxr.4 NR_024620 FOXN3-AS2 HGNC:30119 +HGNC:43882 FOXN3P1 forkhead box N3 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2012-04-17 2017-08-14 643976 ENSG00000176318 OTTHUMG00000022055 NG_022627 PGOHUM00000304787 HGNC:43882 +HGNC:54995 FOXN3P2 FOXN3 pseudogene 2 pseudogene pseudogene Approved Xq13.3 Xq13.3 2020-05-15 2020-05-15 2020-05-15 2020-11-11 117981796 ENSG00000226753 NG_070711 +HGNC:21399 FOXN4 forkhead box N4 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 Forkhead boxes 508 2003-07-07 2018-11-15 121643 ENSG00000139445 OTTHUMG00000152868 uc001toe.5 AF425596 NM_213596 CCDS9126 Q96NZ1 MGI:2151057 RGD:1306389 609429 HGNC:21399 "ENST00000299162.10|NM_213596.3" +HGNC:3819 FOXO1 forkhead box O1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 FKH1 "FKHR|FOXO1A" forkhead homolog in rhabdomyosarcoma Forkhead boxes 508 1994-01-07 2007-05-02 2007-05-02 2021-05-26 2308 ENSG00000150907 OTTHUMG00000016775 uc001uxl.5 NM_002015 CCDS9371 Q12778 "8275086|15057823" MGI:1890077 RGD:620283 LRG_1409|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1409.xml FOXO1 136533 121908 HGNC:3819 "ENST00000379561.6|NM_002015.4" +HGNC:3820 FOXO1B forkhead box O1B (pseudogene) pseudogene pseudogene Approved 5q35.3 05q35.3 FKHRP1 "forkhead (Drosophila) homolog (rhabdomyosarcoma) pseudogene 1|forkhead box O1B|forkhead box O1B pseudogene" 1998-03-23 2018-10-24 2018-10-24 2311 ENSG00000214295 OTTHUMG00000162117 AF032888 NG_001120 9479491 PGOHUM00000235489 HGNC:3820 +HGNC:3821 FOXO3 forkhead box O3 protein-coding gene gene with protein product Approved 6q21 06q21 "AF6q21|FOXO2" "FKHRL1|FOXO3A" Forkhead boxes 508 1998-03-23 2007-05-02 2007-05-02 2015-08-25 2309 ENSG00000118689 OTTHUMG00000015327 uc003psk.3 AF032886 NM_001455 CCDS5068 O43524 9479491 MGI:1890081 RGD:1309196 FOXO3 602681 HGNC:3821 "ENST00000406360.2|NM_001455.4" +HGNC:3822 FOXO3B forkhead box O3B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 FKHRL1P1 "forkhead (Drosophila) homolog (rhabdomyosarcoma) like 1 pseudogene 1|forkhead box O3B pseudogene" 1998-03-23 2009-02-03 2019-01-16 2021-10-06 2310 ENSG00000240445 OTTHUMG00000059047 NM_001368134 A0A2Z4LIS9 "9479491|29925039" PGOHUM00000236954 HGNC:3822 "ENST00000395675.7|NM_001368135.1" +HGNC:7139 FOXO4 forkhead box O4 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 AFX1 MLLT7 "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7" Forkhead boxes 508 1994-12-14 2007-05-02 2007-05-02 2020-04-02 4303 ENSG00000184481 OTTHUMG00000021789 uc004dys.3 NM_005938 "CCDS55440|CCDS43969" P98177 7529552 MGI:1891915 RGD:1561201 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FOXO4 FOXO4 300033 HGNC:7139 "ENST00000374259.8|NM_005938.4" +HGNC:24814 FOXO6 forkhead box O6 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Forkhead boxes 508 2008-04-10 2009-07-23 2020-04-20 100132074 ENSG00000204060 OTTHUMG00000005713 uc057fid.1 NM_001291281 A8MYZ6 12857750 MGI:2676586 RGD:1595858 611457 HGNC:24814 +HGNC:41066 FOXO6-AS1 FOXO6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Antisense RNAs 1987 2019-08-02 2019-08-02 101929901 ENSG00000229901 OTTHUMG00000005714 NR_135817 HGNC:41066 +HGNC:3823 FOXP1 forkhead box P1 protein-coding gene gene with protein product Approved 3p13 03p13 "QRF1|12CC4|HSPC215|hFKH1B" "fork head-related protein like B|glutamine-rich factor 1|PAX5/FOXP1 fusion protein" "Forkhead boxes|MicroRNA protein coding host genes" "508|1691" 2000-01-07 2021-05-26 27086 ENSG00000114861 OTTHUMG00000158803 uc003dop.4 AF146696 NM_032682 "CCDS58839|CCDS74964|CCDS33785|CCDS58838|CCDS2914|CCDS74963" Q9H334 "8265594|11751404" MGI:1914004 RGD:1308669 FOXP1 605515 201171 HGNC:3823 "ENST00000649528.3|NM_001349338.3" HGNC:3823 +HGNC:41942 FOXP1-AS1 FOXP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p13 03p13 FOXP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2016-06-10 104502416 ENSG00000244203 OTTHUMG00000158800 uc003dot.4 NR_126463 FOXP1-AS1 HGNC:41942 +HGNC:41335 FOXP1-IT1 FOXP1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p13 03p13 FOXP1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100506815 ENSG00000242094 OTTHUMG00000158796 uc003dou.4 FOXP1-IT1 +HGNC:13875 FOXP2 forkhead box P2 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 CAGH44 "trinucleotide repeat containing 10|forkhead/winged-helix transcription factor|speech and language disorder 1|CAG repeat protein 44" "TNRC10|SPCH1" "Forkhead boxes|MicroRNA protein coding host genes" "508|1691" 2000-11-20 2021-05-26 93986 ENSG00000128573 OTTHUMG00000023131 uc064hfd.1 U80741 NM_014491 "CCDS5760|CCDS55154|CCDS5761|CCDS43635" O15409 "11586359|9225980" MGI:2148705 RGD:1559697 605317 212885 HGNC:13875 "ENST00000350908.9|NM_014491.4" HGNC:13875 +HGNC:6106 FOXP3 forkhead box P3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "JM2|XPID|AIID|PIDX|DIETER|SCURFIN" IPEX immune dysregulation, polyendocrinopathy, enteropathy, X-linked Forkhead boxes 508 2000-05-05 2002-09-20 2021-05-26 50943 ENSG00000049768 OTTHUMG00000024135 uc004dnf.4 NM_014009 "CCDS48109|CCDS14323" Q9BZS1 "10677306|11138001" MGI:1891436 RGD:1562112 "FOXP3base: Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX|http://structure.bmc.lu.se/idbase/FOXP3base/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FOXP3|LRG_62|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_62.xml" 300292 121913 HGNC:6106 "ENST00000376207.10|NM_014009.4" HGNC:6106 +HGNC:20842 FOXP4 forkhead box P4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 FLJ40908 "Forkhead boxes|MicroRNA protein coding host genes" "508|1691" 2003-05-28 2021-05-26 116113 ENSG00000137166 OTTHUMG00000014679 uc063okl.1 AB080747 NM_138457 "CCDS4856|CCDS34448|CCDS34447" Q8IVH2 MGI:1921373 RGD:1311386 608924 HGNC:20842 "ENST00000307972.10|NM_001012426.2" +HGNC:50332 FOXP4-AS1 FOXP4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 Antisense RNAs 1987 2014-04-15 2018-07-25 101060264 ENSG00000234753 OTTHUMG00000014680 NR_126415 "27790757|29859193" FOXP4-AS1 HGNC:50332 +HGNC:20951 FOXQ1 forkhead box Q1 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 HFH1 Forkhead boxes 508 2003-04-24 2016-10-05 94234 ENSG00000164379 OTTHUMG00000016160 uc003mtl.5 AF153341 NM_033260 CCDS4471 Q9C009 "11747606|12011061" MGI:1298228 RGD:621572 612788 HGNC:20951 "ENST00000296839.5|NM_033260.4" +HGNC:29980 FOXR1 forkhead box R1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "DLNB13|FOXN5" Forkhead boxes 508 2004-05-18 2015-09-07 283150 ENSG00000176302 OTTHUMG00000166347 uc001pui.4 AB094092 NM_181721 CCDS31688 Q6PIV2 15067358 MGI:2685961 RGD:1309739 615755 HGNC:29980 "ENST00000317011.8|NM_181721.3" +HGNC:30469 FOXR2 forkhead box R2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "MGC21658|FOXN6" Forkhead boxes 508 2004-06-18 2020-04-02 139628 ENSG00000189299 OTTHUMG00000021661 uc004duo.4 BC012934 NM_198451 CCDS35308 Q6PJQ5 "15202009|15202027" MGI:3511682 RGD:1564437 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FOXR2 300949 HGNC:30469 "ENST00000339140.5|NM_198451.4" +HGNC:26927 FOXRED1 FAD dependent oxidoreductase domain containing 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 H17 Mitochondrial respiratory chain complex assembly factors 645 2006-02-03 2016-06-08 2021-05-26 55572 ENSG00000110074 OTTHUMG00000165827 uc001qdi.4 NM_017547 CCDS8471 Q96CU9 10497265 MGI:2446262 RGD:1311785 613622 244375 HGNC:26927 "ENST00000263578.10|NM_017547.4" HGNC:26927 +HGNC:26264 FOXRED2 FAD dependent oxidoreductase domain containing 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "FLJ23322|ERFAD" ER flavoprotein associated with degradation FAD-dependent oxidoreductase domain containing 2 2006-07-05 2016-02-02 2018-06-04 80020 ENSG00000100350 OTTHUMG00000044614 uc003app.5 BC027716 NM_024955 CCDS13929 Q8IWF2 20972601 MGI:106315 RGD:1306763 613777 HGNC:26264 "ENST00000397224.9|NM_001102371.2" +HGNC:3735 FOXS1 forkhead box S1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 FREAC10 FKHL18 "forkhead (Drosophila)-like 18|forkhead-like 18 (Drosophila)" Forkhead boxes 508 1997-08-18 2008-04-10 2008-04-10 2015-08-25 2307 ENSG00000179772 OTTHUMG00000032183 uc002wwt.2 AF042831 NM_004118 CCDS13192 O43638 "9325056|17062144" MGI:95546 RGD:1310679 602939 HGNC:3735 "ENST00000375978.5|NM_004118.4" +HGNC:3824 FPGS folylpolyglutamate synthase protein-coding gene gene with protein product Approved 9q34.11 09q34.11 2001-06-22 2015-08-25 2356 ENSG00000136877 OTTHUMG00000020716 uc004bsg.3 NM_001018078 "CCDS35149|CCDS75905|CCDS35148" Q05932 MGI:95576 RGD:1587713 136510 470352 6.3.2.17 HGNC:3824 "ENST00000373247.7|NM_004957.6" +HGNC:3825 FPGT fucose-1-phosphate guanylyltransferase protein-coding gene gene with protein product Approved 1p31.1 01p31.1 GFPP 1998-12-02 2016-04-25 8790 ENSG00000254685 OTTHUMG00000009571 uc001dgb.4 AF017445 NM_001199328 CCDS663 O14772 9804772 MGI:1922790 RGD:735121 603609 2.7.7.30 HGNC:3825 "ENST00000370898.9|NM_003838.5" +HGNC:42952 FPGT-TNNI3K FPGT-TNNI3K readthrough other readthrough Approved 1p31.1 01p31.1 Ankyrin repeat domain containing 403 2011-09-23 2016-10-05 100526835 ENSG00000259030 OTTHUMG00000166281 uc001dge.4 NM_001112808 MGI:2443276 HGNC:42952 +HGNC:3826 FPR1 formyl peptide receptor 1 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "FPR|FMLP" Formyl peptide receptors 198 1991-06-05 2021-04-13 2357 ENSG00000171051 OTTHUMG00000183500 uc002pxq.4 M60627 NM_002029 CCDS12839 P21462 "2161213|12595898" MGI:107443 RGD:1310883 LRG_146|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_146.xml 136537 457447 objectId:222 HGNC:3826 "ENST00000304748.5|NM_002029.4" HGNC:3826 +HGNC:3827 FPR2 formyl peptide receptor 2 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "LXA4R|HM63|FPRH2|FMLPX|FPR2A|FMLP-R-II|ALXR|ALX" FPRL1 formyl peptide receptor-like 1 "Formyl peptide receptors|Leukotriene receptors" "198|204" 1991-06-05 2008-04-17 2008-04-17 2020-11-19 2358 ENSG00000171049 OTTHUMG00000183501 uc061byv.1 M88107 NM_001005738 CCDS12840 P25090 9054386 MGI:1278319 RGD:1584013 136538 objectId:223 HGNC:3827 "ENST00000340023.7|NM_001005738.2" +HGNC:3828 FPR3 formyl peptide receptor 3 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "FPRH1|FMLPY|RMLP-R-I" FPRL2 formyl peptide receptor-like 2 Formyl peptide receptors 198 1991-12-04 2008-04-17 2008-04-17 2016-01-15 2359 ENSG00000187474 OTTHUMG00000183502 uc002pxt.2 NM_002030 CCDS12841 P25089 "1612600|8198572" MGI:1194495 RGD:1566044 136539 objectId:224 HGNC:3828 "ENST00000339223.5|NM_002030.5" +HGNC:3868 FRA1A fragile site, aphidicolin type, common, fra(1)(p36) other fragile site Approved 1p36 01p36 2001-06-22 2012-10-02 2360 +HGNC:3869 FRA1B fragile site, aphidicolin type, common, fra(1)(p32) other fragile site Approved 1p32 01p32 2001-06-22 2012-10-02 2361 +HGNC:3870 FRA1C fragile site, aphidicolin type, common, fra(1)(p31.2) other fragile site Approved 1p31.2 01p31.2 2001-06-22 2012-10-02 2362 +HGNC:3871 FRA1D fragile site, aphidicolin type, common, fra(1)(p22) other fragile site Approved 1p22 01p22 2001-06-22 2012-10-02 2363 +HGNC:3872 FRA1E fragile site, aphidicolin type, common, fra(1)(p21.2) other fragile site Approved 1p21.2 01p21.2 2001-06-22 2012-10-02 2364 16556484 +HGNC:3873 FRA1F fragile site, aphidicolin type, common, fra(1)(q21) other fragile site Approved 1q21 01q21 2001-06-22 2012-10-02 2365 +HGNC:3874 FRA1G fragile site, aphidicolin type, common, fra(1)(q25.1) other fragile site Approved 1q25.1 01q25.1 2001-06-22 2012-10-02 2366 +HGNC:3875 FRA1H fragile site, 5-azacytidine type, common, fra(1)(q42) other fragile site Approved 1q42.1 01q42.1 2001-06-22 2012-10-02 2367 9763679 +HGNC:3876 FRA1I fragile site, aphidicolin type, common, fra(1)(q44) other fragile site Approved 1q44 01q44 2001-06-22 2012-10-02 2368 +HGNC:3877 FRA1J fragile site, 5-azacytidine type, common, fra(1)(q12) other fragile site Approved 1q12 01q12 2001-06-22 2012-10-02 2369 +HGNC:3878 FRA1K fragile site, aphidicolin type, common, fra(1)(q31) other fragile site Approved 1q31 01q31 1988-08-31 2003-10-09 2370 +HGNC:3879 FRA1L fragile site, aphidicolin type, common, fra(1)(p31) other fragile site Approved 1p31 01p31 1989-06-30 2003-10-09 2371 +HGNC:3880 FRA1M fragile site, folic acid type, rare, fra(1)(p21.3) other fragile site Approved 1p21.3 01p21.3 1992-08-24 2003-10-09 2372 1865478 +HGNC:3885 FRA2A fragile site, folic acid type, rare, fra(2)(q11.2) other fragile site Approved 2q11.2 02q11.2 2001-06-22 2020-04-20 109113861 NG_052019 +HGNC:3886 FRA2B fragile site, folic acid type, rare, fra(2)(q13) other fragile site Approved 2q13 02q13 2001-06-22 2012-10-02 2374 +HGNC:3887 FRA2C fragile site, aphidicolin type, common, fra(2)(p24.2) other fragile site Approved 2p24.2 02p24.2 2001-06-22 2012-10-02 2375 +HGNC:3888 FRA2D fragile site, aphidicolin type, common, fra(2)(p16.2) other fragile site Approved 2p16.2 02p16.2 2001-06-22 2012-10-02 2376 +HGNC:3889 FRA2E fragile site, aphidicolin type, common, fra(2)(p13) other fragile site Approved 2p13 02p13 2001-06-22 2012-10-02 2377 +HGNC:3890 FRA2F fragile site, aphidicolin type, common, fra(2)(q21.3) other fragile site Approved 2q21.3 02q21.3 2001-06-22 2012-10-02 2378 +HGNC:3891 FRA2G fragile site, aphidicolin type, common, fra(2)(q31) other fragile site Approved 2q31 02q31 2001-06-22 2012-10-02 2379 +HGNC:3892 FRA2H fragile site, aphidicolin type, common, fra(2)(q32.1) other fragile site Approved 2q32.1 02q32.1 2001-06-22 2012-10-02 2380 +HGNC:3893 FRA2I fragile site, aphidicolin type, common, fra(2)(q33) other fragile site Approved 2q33 02q33 2001-06-22 2012-10-02 2381 +HGNC:3894 FRA2J fragile site, aphidicolin type, common, fra(2)(q37.3) other fragile site Approved 2q37.3 02q37.3 2001-06-22 2012-10-02 2382 +HGNC:3895 FRA2K fragile site, folic acid type, rare, fra(2)(q22.3) other fragile site Approved 2q22.3 02q22.3 2001-06-22 2012-10-02 2383 +HGNC:3896 FRA3A fragile site, aphidicolin type, common, fra(3)(p24.2) other fragile site Approved 3p24.2 03p24.2 2001-06-22 2012-10-02 2384 +HGNC:3897 FRA3B fragile site, aphidicolin type, common, fra(3)(p14.2) other fragile site Approved 3p14.2 03p14.2 1986-01-01 2003-10-09 3864602 +HGNC:3898 FRA3C fragile site, aphidicolin type, common, fra(3)(q27) other fragile site Approved 3q27 03q27 2001-06-22 2012-10-02 2386 +HGNC:3899 FRA3D fragile site, aphidicolin type, common, fra(3)(q25) other fragile site Approved 3q25 03q25 1989-06-01 2003-10-09 2387 +HGNC:3900 FRA4A fragile site, aphidicolin type, common, fra(4)(p16.1) other fragile site Approved 4p16.1 04p16.1 2001-06-22 2012-10-02 2388 +HGNC:3901 FRA4B fragile site, BrdU type, common, fra(4)(q12) other fragile site Approved 4q12 04q12 2001-06-22 2012-10-02 2389 +HGNC:3902 FRA4C fragile site, aphidicolin type, common, fra(4)(q31.1) other fragile site Approved 4q31.1 04q31.1 2001-06-22 2012-10-02 2390 +HGNC:3903 FRA4D fragile site, aphidicolin type, common, fra(4)(p15) other fragile site Approved 4p15 04p15 2001-06-22 2012-10-02 2391 +HGNC:3905 FRA5A fragile site, BrdU type, common, fra(5)(p13) other fragile site Approved 5p13 05p13 2001-06-22 2012-10-02 2393 +HGNC:3906 FRA5B fragile site, BrdU type, common, fra(5)(q15) other fragile site Approved 5q15 05q15 2001-06-22 2012-10-02 2394 +HGNC:3907 FRA5C fragile site, aphidicolin type, common, fra(5)(q31.1) other fragile site Approved 5q31.1 05q31.1 2001-06-22 2012-10-02 2396 +HGNC:3908 FRA5D fragile site, aphidicolin type, common, fra(5)(q15) other fragile site Approved 5q15 05q15 2001-06-22 2012-10-02 2397 +HGNC:3909 FRA5E fragile site, aphidicolin type, common, fra(5)(p14) other fragile site Approved 5p14 05p14 1988-08-31 2005-03-17 2398 +HGNC:3910 FRA5F fragile site, aphidicolin type, common, fra(5)(q21) other fragile site Approved 5q21 05q21 1988-08-31 2005-03-17 2399 +HGNC:3911 FRA5G fragile site, folic acid type, rare, fra(5)(q35) other fragile site Approved 5q35 05q35 1992-08-24 2005-03-17 2400 2213847 +HGNC:3912 FRA6A fragile site, folic acid type, rare, fra(6)(p23) other fragile site Approved 6p23 06p23 2001-06-22 2012-10-02 2401 +HGNC:3913 FRA6B fragile site, aphidicolin type, common, fra(6)(p25.1) other fragile site Approved 6p25.1 06p25.1 2001-06-22 2012-10-02 2402 +HGNC:3914 FRA6C fragile site, aphidicolin type, common, fra(6)(p22.2) other fragile site Approved 6p22.2 06p22.2 2001-06-22 2012-10-02 2403 +HGNC:3915 FRA6D fragile site, BrdU type, common, fra(6)(q13) other fragile site Approved 6q13 06q13 2001-06-22 2012-10-02 2404 +HGNC:3916 FRA6E fragile site, aphidicolin type, common, fra(6)(q26) other fragile site Approved 6q26 06q26 2001-06-22 2012-10-02 2405 "12874785|12719539" +HGNC:3917 FRA6F fragile site, aphidicolin type, common, fra(6)(q21) other fragile site Approved 6q21 06q21 2001-06-22 2012-10-02 2406 12370818 +HGNC:3918 FRA6G fragile site, aphidicolin type, common, fra(6)(q15) other fragile site Approved 6q15 06q15 1989-06-01 2407 +HGNC:3919 FRA7A fragile site, folic acid type, rare, fra(7)(p11.2) other fragile site Approved 7p11.2 07p11.2 2001-06-22 2020-04-20 109363672 NG_052593 +HGNC:3920 FRA7B fragile site, aphidicolin type, common, fra(7)(p22) other fragile site Approved 7p22 07p22 2001-06-22 2012-10-02 2409 +HGNC:3921 FRA7C fragile site, aphidicolin type, common, fra(7)(p14.2) other fragile site Approved 7p14.2 07p14.2 2001-06-22 2012-10-02 2410 +HGNC:3922 FRA7D fragile site, aphidicolin type, common, fra(7)(p13) other fragile site Approved 7p13 07p13 2001-06-22 2012-10-02 2411 +HGNC:3923 FRA7E fragile site, aphidicolin type, common, fra(7)(q21.2) other fragile site Approved 7q21.2 07q21.2 2001-06-22 2012-10-02 2412 +HGNC:3924 FRA7F fragile site, aphidicolin type, common, fra(7)(q22) other fragile site Approved 7q22 07q22 2001-06-22 2012-10-02 2413 +HGNC:3925 FRA7G fragile site, aphidicolin type, common, fra(7)(q31.2) other fragile site Approved 7q31.2 07q31.2 D7S486 2001-06-22 2012-10-02 2414 12620387 +HGNC:3926 FRA7H fragile site, aphidicolin type, common, fra(7)(q32.3) other fragile site Approved 7q32.3 07q32.3 2001-06-22 2012-10-02 2415 +HGNC:3927 FRA7I fragile site, aphidicolin type, common, fra(7)(q36) other fragile site Approved 7q36 07q36 2001-06-22 2012-10-02 2416 +HGNC:3928 FRA7J fragile site, aphidicolin type, common, fra(7)(q11) other fragile site Approved 7q11 07q11 1989-06-01 2417 +HGNC:3929 FRA8A fragile site, folic acid type, rare, fra(8)(q22.3) other fragile site Approved 8q22.3 08q22.3 2001-06-22 2012-10-02 2418 +HGNC:3930 FRA8B fragile site, aphidicolin type, common, fra(8)(q22.1) other fragile site Approved 8q22.1 08q22.1 2001-06-22 2012-10-02 2419 +HGNC:3931 FRA8C fragile site, aphidicolin type, common, fra(8)(q24.1) other fragile site Approved 8q24.1 08q24.1 2001-06-22 2012-10-02 2421 +HGNC:3932 FRA8D fragile site, aphidicolin type, common, fra(8)(q24.3) other fragile site Approved 8q24.3 08q24.3 2001-06-22 2012-10-02 2422 +HGNC:3933 FRA8E fragile site, distamycin A type, rare, fra(8)(q24.1) other fragile site Approved 8q24.1 08q24.1 2001-06-22 2012-10-02 2423 +HGNC:3935 FRA9A fragile site, folic acid type, rare, fra(9)(p21) other fragile site Approved 9p21 09p21 2001-06-22 2012-10-02 2425 +HGNC:3936 FRA9B fragile site, folic acid type, rare, fra(9)(q32) other fragile site Approved 9q32 09q32 2001-06-22 2012-10-02 2426 +HGNC:3937 FRA9C fragile site, BrdU type, common, fra(9)(p21) other fragile site Approved 9p21 09p21 2001-06-22 2012-10-02 2427 +HGNC:3938 FRA9D fragile site, aphidicolin type, common, fra(9)(q22.1) other fragile site Approved 9q22.1 09q22.1 2001-06-22 2012-10-02 2428 +HGNC:3939 FRA9E fragile site, aphidicolin type, common, fra(9)(q32) other fragile site Approved 9q32 09q32 2001-06-22 2012-10-02 2429 "12555072|15869410" +HGNC:3940 FRA9F fragile site, 5-azacytidine type, common, fra(9)(q12) other fragile site Approved 9q12 09q12 2001-06-22 2012-10-02 2430 +HGNC:3829 FRA10A fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) other fragile site Approved 10q23.3 or 10q24.2 10q23.3 or 10q24.2 1986-01-01 2020-04-20 109280162 NG_052564 15203205 +HGNC:1162 FRA10AC1 FRA10A associated CGG repeat 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 C10orf4 "chromosome 10 open reading frame 4|fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1" Spliceosomal C complex 1510 2000-08-24 2010-05-25 2016-10-07 2020-09-17 118924 ENSG00000148690 OTTHUMG00000018776 uc001kiz.2 AK090955 NM_145246 CCDS7430 Q70Z53 15203205 MGI:1917817 RGD:1309482 608866 HGNC:1162 "ENST00000359204.5|NM_145246.5" +HGNC:3830 FRA10B fragile site, BrdU type, rare, fra(10)(q25.2) other fragile site Approved 10q25.2 10q25.2 2001-06-22 2020-04-20 109614541 AF053508 NG_052670 9660961 +HGNC:3831 FRA10C fragile site, BrdU type, common, fra(10)(q21) other fragile site Approved 10q21 10q21 2001-06-22 2012-10-02 2433 +HGNC:3832 FRA10D fragile site, aphidicolin type, common, fra(10)(q22.1) other fragile site Approved 10q22.1 10q22.1 2001-06-22 2012-10-02 2434 +HGNC:3833 FRA10E fragile site, aphidicolin type, common, fra(10)(q25.2) other fragile site Approved 10q25.2 10q25.2 2001-06-22 2012-10-02 2435 +HGNC:3834 FRA10F fragile site, aphidicolin type, common, fra(10)(q26.1) other fragile site Approved 10q26.1 10q26.1 2001-06-22 2012-10-02 2436 +HGNC:3835 FRA10G fragile site, aphidicolin type, common, fra(10)(q11.2) other fragile site Approved 10q11.2 10q11.2 1990-08-15 2437 +HGNC:3836 FRA11A fragile site, folic acid type, rare, fra(11)(q13.3) other fragile site Approved 11q13.3 11q13.3 2001-06-22 2020-04-20 109286555 NG_052571 +HGNC:3837 FRA11B fragile site, folic acid type, rare, fra(11)(q23.3) other fragile site Approved 11q23.3 11q23.3 2001-06-22 2020-04-20 109280160 NG_052562 17063465 +HGNC:3838 FRA11C fragile site, aphidicolin type, common, fra(11)(p15.1) other fragile site Approved 11p15.1 11p15.1 2001-06-22 2012-10-02 2440 +HGNC:3839 FRA11D fragile site, aphidicolin type, common, fra(11)(p14.2) other fragile site Approved 11p14.2 11p14.2 2001-06-22 2012-10-02 2441 +HGNC:3840 FRA11E fragile site, aphidicolin type, common, fra(11)(p13) other fragile site Approved 11p13 11p13 2001-06-22 2012-10-02 2442 +HGNC:3841 FRA11F fragile site, aphidicolin type, common, fra(11)(q14.2) other fragile site Approved 11q14.2 11q14.2 2001-06-22 2012-10-02 2443 +HGNC:3842 FRA11G fragile site, aphidicolin type, common, fra(11)(q23.3) other fragile site Approved 11q23.3 11q23.3 2001-06-22 2012-10-02 2445 +HGNC:3843 FRA11H fragile site, aphidicolin type, common, fra(11)(q13) other fragile site Approved 11q13 11q13 2001-06-22 2012-10-02 2446 +HGNC:3844 FRA11I fragile site, distamycin A type, rare, fra(11)(p15.1) other fragile site Approved 11p15.1 11p15.1 1989-05-19 2447 +HGNC:3845 FRA12A fragile site, folic acid type, rare, fra(12)(q13.1) other fragile site Approved 12q13.1 12q13.1 2001-06-22 2020-04-20 109286554 NG_052570 +HGNC:3846 FRA12B fragile site, aphidicolin type, common, fra(12)(q21.3) other fragile site Approved 12q21.3 12q21.3 2001-06-22 2012-10-02 2449 +HGNC:3847 FRA12C fragile site, BrdU type, rare, fra(12)(q24.2) other fragile site Approved 12q24.2 12q24.2 2001-06-22 2012-10-02 2450 +HGNC:3848 FRA12D fragile site, folic acid type, rare, fra(12)(q24.13) other fragile site Approved 12q24.13 12q24.13 2001-06-22 2012-10-02 2451 +HGNC:3849 FRA12E fragile site, aphidicolin type, common, fra(12)(q24) other fragile site Approved 12q24 12q24 2001-06-22 2012-10-02 2452 +HGNC:3850 FRA13A fragile site, aphidicolin type, common, fra(13)(q13.2) other fragile site Approved 13q13.2 13q13.2 2001-06-22 2012-10-02 2453 16244873 +HGNC:3851 FRA13B fragile site, BrdU type, common, fra(13)(q21) other fragile site Approved 13q21 13q21 2001-06-22 2012-10-02 2454 +HGNC:3852 FRA13C fragile site, aphidicolin type, common, fra(13)(q21.2) other fragile site Approved 13q21.2 13q21.2 2001-06-22 2012-10-02 2455 +HGNC:3853 FRA13D fragile site, aphidicolin type, common, fra(13)(q32) other fragile site Approved 13q32 13q32 1989-06-01 2003-10-09 2456 +HGNC:3854 FRA14B fragile site, aphidicolin type, common, fra(14)(q23) other fragile site Approved 14q23 14q23 2001-06-22 2012-10-02 2457 +HGNC:3855 FRA14C fragile site, aphidicolin type, common, fra(14)(q24.1) other fragile site Approved 14q24.1 14q24.1 2001-06-22 2012-10-02 2458 +HGNC:3856 FRA15A fragile site, aphidicolin type, common, fra(15)(q22) other fragile site Approved 15q22 15q22 2001-06-22 2012-10-02 2459 +HGNC:3857 FRA16A fragile site, folic acid type, rare, fra(16)(p13.11) other fragile site Approved 16p13.11 16p13.11 2001-06-22 2020-04-20 109617027 S70397 NG_052794 +HGNC:3858 FRA16B fragile site, distamycin A type, rare, fra(16)(q22.1) other fragile site Approved 16q22.1 16q22.1 2001-06-22 2020-04-20 109611591 U85253 NG_052660 14526167 +HGNC:3859 FRA16C fragile site, aphidicolin type, common, fra(16)(q22.1) other fragile site Approved 16q22.1 16q22.1 2001-06-22 2012-10-02 2462 +HGNC:3860 FRA16D fragile site, aphidicolin type, common, fra(16)(q23.2) other fragile site Approved 16q23.2 16q23.2 2001-06-22 2012-10-02 2463 14603443 MGI:2450537 +HGNC:3861 FRA16E fragile site, distamycin A type, rare, fra(16)(p12.1) other fragile site Approved 16p12.1 16p12.1 1989-06-01 2003-10-09 2464 +HGNC:3862 FRA17A fragile site, distamycin A type, rare, fra(17)(p12) other fragile site Approved 17p12 17p12 2001-06-22 2012-10-02 2465 +HGNC:3863 FRA17B fragile site, aphidicolin type, common, fra(17)(q23.1) other fragile site Approved 17q23.1 17q23.1 2001-06-22 2012-10-02 2466 +HGNC:3864 FRA18A fragile site, aphidicolin type, common, fra(18)(q12.2) other fragile site Approved 18q12.2 18q12.2 2001-06-22 2012-10-02 2467 +HGNC:3865 FRA18B fragile site, aphidicolin type, common, fra(18)(q21.3) other fragile site Approved 18q21.3 18q21.3 2001-06-22 2012-10-02 2468 +HGNC:16929 FRA18C fragile site, aphidicolin type, common, fra(18)(q22.2) other fragile site Approved 18q22.2 18q22.2 fragile site, folic acid type, rare, fra(18)(q22.1) 2001-10-17 2008-05-28 2008-05-28 116710 17475918 +HGNC:3866 FRA19A fragile site, 5-azacytidine type, common, fra(19)(q13) other fragile site Approved 19q13 19q13 2001-06-22 2012-10-02 2469 "4077049|2579891" +HGNC:3867 FRA19B fragile site, folic acid type, rare, fra(19)(p13) other fragile site Approved 19p13 19p13 2001-06-22 2012-10-02 2470 +HGNC:3881 FRA20A fragile site, folic acid type, rare, fra(20)(p11.23) other fragile site Approved 20p11.23 20p11.23 2001-06-22 2012-10-02 2471 +HGNC:3882 FRA20B fragile site, aphidicolin type, common, fra(20)(p12.2) other fragile site Approved 20p12.2 20p12.2 2001-06-22 2012-10-02 2472 +HGNC:3883 FRA22A fragile site, folic acid type, rare, fra(22)(q13) other fragile site Approved 22q13 22q13 2001-06-22 2012-10-02 2473 +HGNC:3884 FRA22B fragile site, aphidicolin type, common, fra(22)(q12.2) other fragile site Approved 22q12.2 22q12.2 2001-06-22 2012-10-02 2474 +HGNC:19185 FRAS1 Fraser extracellular matrix complex subunit 1 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "FLJ22031|FLJ14927|KIAA1500" Fraser syndrome 1 2003-02-25 2014-06-25 2021-05-26 80144 ENSG00000138759 OTTHUMG00000160856 uc003hlb.2 AB040933 NM_001166133 "CCDS54771|CCDS54772" Q86XX4 "12766769|3118036" MGI:2385368 RGD:1306516 607830 121922 HGNC:19185 "ENST00000512123.4|NM_025074.7" HGNC:19185 +HGNC:3944 FRAT1 FRAT regulator of WNT signaling pathway 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "frequently rearranged in advanced T-cell lymphomas|frequently rearranged in advanced T-cell lymphomas 1|FRAT1, WNT signaling pathway regulator" 2000-04-13 2019-01-25 2019-01-25 10023 ENSG00000165879 OTTHUMG00000018848 uc001knc.2 U58975 NM_005479 CCDS7455 Q92837 9034327 MGI:109450 RGD:9147096 602503 HGNC:3944 "ENST00000371021.5|NM_005479.4" +HGNC:16048 FRAT2 FRAT regulator of WNT signaling pathway 2 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 GSK-3 binding protein FRAT2 "frequently rearranged in advanced T-cell lymphomas 2|FRAT2, WNT signaling pathway regulator" 2001-07-06 2019-01-25 2019-01-25 23401 ENSG00000181274 OTTHUMG00000018850 uc001knd.2 AF062739 NM_012083 CCDS7456 O75474 "9635432|11237732" MGI:2673967 RGD:1591882 605006 HGNC:16048 "ENST00000371019.4|NM_012083.3" +HGNC:3945 FRAXA fragile site, folic acid type, rare, fra(X)(q27.3) A other fragile site Approved Xq27.3 Xq27.3 fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 1986-01-01 2022-03-23 2022-03-23 108684022 NG_051583 +HGNC:3946 FRAXB fragile site, aphidicolin type, common, fra(X)(p22.31) B other fragile site Approved Xp22.31 Xp22.31 2001-06-22 2012-10-02 2478 11746990 +HGNC:3947 FRAXC fragile site, aphidicolin type, common, fra(X)(q22.1) C other fragile site Approved Xq22.1 Xq22.1 2001-06-22 2012-10-02 2479 +HGNC:3948 FRAXD fragile site, aphidicolin type, common, fra(X)(q27.2) D other fragile site Approved Xq27.2 Xq27.2 2001-06-22 2012-10-02 2480 +HGNC:3949 FRAXE fragile site, folic acid type, rare, fra(X)(q28) E other fragile site Approved Xq28 Xq28 1992-08-24 2020-04-20 109461475 NG_052611 1605195 +HGNC:23399 FREM1 FRAS1 related extracellular matrix 1 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 "FLJ25461|C9orf145|C9orf143|DKFZp686M16108|TILRR" C9orf154 chromosome 9 open reading frame 154 C-type lectin domain containing 1298 2004-04-29 2004-12-15 2004-12-15 2021-05-26 158326 ENSG00000164946 OTTHUMG00000019575 uc003zlm.3 AK058190 NM_144966 "CCDS47952|CCDS55293" Q5H8C1 "12838346|15345741" MGI:2670972 RGD:1306981 608944 220909 HGNC:23399 "ENST00000380880.4|NM_001379081.2" HGNC:23399 +HGNC:25396 FREM2 FRAS1 related extracellular matrix 2 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 DKFZp686J0811 2004-12-15 2019-04-08 2021-05-26 341640 ENSG00000150893 OTTHUMG00000016759 uc001uwv.4 BX538150 NM_207361 CCDS31960 Q5SZK8 15345741 MGI:2444465 RGD:1566012 608945 121927 HGNC:25396 "ENST00000280481.9|NM_207361.6" HGNC:25396 +HGNC:39964 FREM2-AS1 FREM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 FREM2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-18 2012-08-15 2014-11-19 100874073 ENSG00000225350 OTTHUMG00000016760 uc058wnm.1 NR_146963 FREM2-AS1 HGNC:39964 +HGNC:25172 FREM3 FRAS1 related extracellular matrix 3 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 2004-12-15 2018-11-15 166752 ENSG00000183090 OTTHUMG00000161577 uc021xsj.2 BX091796 NM_001168235 CCDS54808 P0C091 15345741 MGI:2685641 RGD:1562701 608946 HGNC:25172 "ENST00000329798.5|NM_001168235.2" +HGNC:3954 FRG1 FSHD region gene 1 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 "FSG1|FRG1A" 1996-08-16 2016-10-05 2483 ENSG00000109536 OTTHUMG00000160202 uc003izs.4 L76159 NM_004477 CCDS34121 Q14331 8733123 MGI:893597 RGD:1585495 601278 121930 HGNC:3954 "ENST00000226798.9|NM_004477.3" +HGNC:51590 FRG1-DT FRG1 divergent transcript non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 Divergent transcripts 1990 2017-08-03 2021-06-07 728339 ENSG00000245685 OTTHUMG00000160585 NR_149038 HGNC:51590 +HGNC:15792 FRG1BP FSHD region gene 1 family member B, pseudogene pseudogene pseudogene Approved 20q11.1 20q11.1 bA348I14.2 "C20orf80|FRG1B" "chromosome 20 open reading frame 80|FSHD region gene 1 family, member B" 2001-09-17 2015-07-13 2015-07-13 2015-07-13 284802 ENSG00000149531 OTTHUMG00000032157 NR_003579 HGNC:15792 +HGNC:51762 FRG1CP FSHD region gene 1 family member C, pseudogene pseudogene pseudogene Approved 20q11.1 20q11.1 2015-07-13 2015-07-13 2017-03-10 100289097 ENSG00000282826 OTTHUMG00000191531 NR_132315 PGOHUM00000296939 HGNC:51762 +HGNC:51763 FRG1DP FSHD region gene 1 family member D, pseudogene pseudogene pseudogene Approved 20q11.1 20q11.1 2015-07-13 2017-03-10 102723316 ENSG00000282870 OTTHUMG00000191532 NR_132316 PGOHUM00000297084 HGNC:51763 +HGNC:51764 FRG1EP FSHD region gene 1 family member E, pseudogene pseudogene pseudogene Approved 20q11.1 20q11.1 2015-07-13 2016-11-09 102723390 ENSG00000282995 OTTHUMG00000191533 NR_146067 PGOHUM00000296946 HGNC:51764 +HGNC:51765 FRG1FP FSHD region gene 1 family member F, pseudogene pseudogene pseudogene Approved 22p11.2 22p11.2 2018-04-27 2018-04-27 2018-04-27 2018-04-27 102723780 ENSG00000283047 OTTHUMG00000191577 NR_132320 PGOHUM00000297398 HGNC:51765 +HGNC:51766 FRG1GP FSHD region gene 1 family member G, pseudogene pseudogene pseudogene Approved 22p11.2 22p11.2 2018-04-27 2018-04-27 101930531 ENSG00000283023 OTTHUMG00000191578 NG_042233 PGOHUM00000297588 HGNC:51766 +HGNC:51767 FRG1HP FSHD region gene 1 family member H, pseudogene pseudogene pseudogene Approved 9p11.2 09p11.2 2015-07-13 2015-07-13 100132352 ENSG00000276291 OTTHUMG00000188611 NR_034006 PGOHUM00000304207 HGNC:51767 +HGNC:51768 FRG1JP FSHD region gene 1 family member J, pseudogene pseudogene pseudogene Approved 9q13 09q13 NB - could be FRG1IP depending on decision re FRG1H/P 2015-07-13 2015-07-13 642236 ENSG00000215548 OTTHUMG00000058676 NR_033907 PGOHUM00000303876 HGNC:51768 +HGNC:51769 FRG1KP FSHD region gene 1 family member K, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 NB - could be FRG1JP depending on decision re FRG1H/P 2015-07-13 2015-07-13 102724923 ENSG00000280286 OTTHUMG00000189283 PGOHUM00000303902 HGNC:51769 +HGNC:19136 FRG2 FSHD region gene 2 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 FRG2A 2007-10-11 2015-09-09 448831 ENSG00000205097 OTTHUMG00000160339 uc003izv.4 NM_001005217 "CCDS34123|CCDS68834" Q64ET8 "12176321|15520407" MGI:3035485 RGD:1592623 609032 HGNC:19136 "ENST00000504750.6|NM_001286820.2" +HGNC:33518 FRG2B FSHD region gene 2 family member B protein-coding gene gene with protein product Approved 10q26.3 10q26.3 FSHD region gene 2 family, member B 2007-10-11 2015-11-18 2015-11-18 441581 ENSG00000225899 OTTHUMG00000019328 uc010qvg.2 AY744466 NM_001080998 CCDS44502 Q96QU4 15520407 MGI:3035485 HGNC:33518 "ENST00000425520.2|NM_001080998.2" +HGNC:33626 FRG2C FSHD region gene 2 family member C protein-coding gene gene with protein product Approved 3p12.3 03p12.3 FSHD region gene 2 family, member C 2007-10-11 2015-11-18 2020-04-20 100288801 ENSG00000172969 OTTHUMG00000158963 uc003dpt.6 NM_001124759.1 CCDS43108 A6NGY1 MGI:3035485 HGNC:33626 "ENST00000308062.8|NM_001124759.5" +HGNC:27093 FRG2DP FSHD region gene 2 family member D, pseudogene pseudogene pseudogene Approved 16p11.1 16p11.1 FSHD region gene 2 family, member D, pseudogene 2014-10-16 2015-11-18 2015-11-18 146481 ENSG00000261711 OTTHUMG00000176004 NR_026980 12477932 PGOHUM00000293582 HGNC:27093 +HGNC:51365 FRG2EP FSHD region gene 2 family member E, pseudogene pseudogene pseudogene Approved 20q11.1 20q11.1 FSHD region gene 2 family, member E, pseudogene 2014-10-16 2015-11-18 2020-01-06 647476 ENSG00000282842 OTTHUMG00000191524 NR_037925 PGOHUM00000296943 HGNC:51365 +HGNC:51366 FRG2FP FSHD region gene 2 family member F, pseudogene pseudogene pseudogene Approved 3q29 03q29 TCONS_l2_00020053 FSHD region gene 2 family, member F, pseudogene 2014-10-16 2015-11-18 2015-11-18 100128827 ENSG00000232783 OTTHUMG00000155373 NG_030115 PGOHUM00000299715 HGNC:51366 +HGNC:51364 FRG2GP FSHD region gene 2 family member G, pseudogene pseudogene pseudogene Approved 16p11.1 16p11.1 FSHD region gene 2 family, member G, pseudogene 2014-10-16 2015-11-18 2015-11-18 106480321 ENSG00000260291 OTTHUMG00000176251 NG_044437 PGOHUM00000293576 HGNC:51364 +HGNC:51794 FRG2HP FSHD region gene 2 family member H, pseudogene pseudogene pseudogene Approved 16p11.1 16p11.1 2015-06-09 2015-06-09 2015-06-09 101059920 ENSG00000260846 OTTHUMG00000176246 PGOHUM00000293574 HGNC:51794 +HGNC:51795 FRG2IP FSHD region gene 2 family member I, pseudogene pseudogene pseudogene Approved 16p11.1 16p11.1 2015-06-09 2015-06-09 106480351 ENSG00000260598 OTTHUMG00000175999 NG_044668 PGOHUM00000293578 HGNC:51795 +HGNC:51796 FRG2JP FSHD region gene 2 family member J, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 2015-06-09 2015-06-09 101059926 ENSG00000259897 OTTHUMG00000176243 PGOHUM00000293572 HGNC:51796 +HGNC:51797 FRG2KP FSHD region gene 2 family member K, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 2015-06-09 2015-06-09 102724018 ENSG00000261741 OTTHUMG00000176625 NR_135055 PGOHUM00000293513 HGNC:51797 +HGNC:51798 FRG2LP FSHD region gene 2 family member L, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 2015-06-09 2015-06-09 106480352 ENSG00000267704 OTTHUMG00000182059 NG_044674 PGOHUM00000294736 HGNC:51798 +HGNC:51799 FRG2MP FSHD region gene 2 family member M, pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 2015-06-09 2015-06-09 106481739 ENSG00000275170 OTTHUMG00000187953 NG_043527 PGOHUM00000297219 HGNC:51799 +HGNC:51844 FRGCA FOXM1-regulated, gastric cancer associated non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 LncRNA-AP001631.9 Long non-coding RNAs with non-systematic symbols 1992 2015-08-26 2018-07-25 106481742 ENSG00000236663 OTTHUMG00000086845 NR_133677 26261500 FRGCA HGNC:51844 +HGNC:3955 FRK fyn related Src family tyrosine kinase protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "RAK|GTK" PTK5 "PTK5 protein tyrosine kinase 5|fyn-related kinase|fyn-related Src family tyrosine kinase" "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1995-02-08 2016-03-14 2016-10-05 2444 ENSG00000111816 OTTHUMG00000015424 uc003pwi.2 U00803 NM_002031 CCDS5103 P42685 7510261 MGI:103265 RGD:621423 606573 objectId:2025 2.7.10.1 HGNC:3955 "ENST00000606080.2|NM_002031.3" +HGNC:21240 FRMD1 FERM domain containing 1 protein-coding gene gene with protein product Approved 6q27 06q27 "FLJ00181|DKFZp434O0117|FLJ40260|FLJ22615|bA164L23.1" FERM domain containing 1293 2003-05-29 2014-11-19 79981 ENSG00000153303 OTTHUMG00000016037 uc003qwo.5 NM_024919 "CCDS47518|CCDS5306" Q8N878 RGD:1588779 HGNC:21240 "ENST00000283309.11|NM_024919.6" +HGNC:24125 FRMD3 FERM domain containing 3 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "EPB41L4O|MGC20553" FERM domain containing 1293 2004-01-27 2016-10-05 257019 ENSG00000172159 OTTHUMG00000020103 uc004ams.3 AK094281 NM_174938 "CCDS59133|CCDS75852|CCDS43840|CCDS59132|CCDS59131" A2A2Y4 12601556 MGI:2442466 RGD:1304802 607619 HGNC:24125 "ENST00000304195.8|NM_174938.6" +HGNC:55790 FRMD3-AS1 FRMD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.32 09q21.32 Antisense RNAs 1987 2021-07-28 2021-07-28 102723989 ENSG00000229109 XR_007061616 +HGNC:25491 FRMD4A FERM domain containing 4A protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ10210|KIAA1294|bA295P9.4" FRMD4 FERM domain containing 4 FERM domain containing 1293 2004-02-05 2004-07-15 2004-07-15 2016-10-05 55691 ENSG00000151474 OTTHUMG00000017708 uc001ims.4 AB037715 NM_018027 CCDS7101 Q9P2Q2 10718198 MGI:1919850 RGD:1309050 616305 477056 HGNC:25491 "ENST00000357447.7|NM_018027.5" HGNC:25491 +HGNC:24886 FRMD4B FERM domain containing 4B protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "KIAA1013|GRSP1" FERM domain containing 1293 2004-07-15 2016-10-05 23150 ENSG00000114541 OTTHUMG00000158772 uc003dnv.3 AL832231 NM_015123 CCDS46863 Q9Y2L6 "10231032|11445584" MGI:2141794 RGD:620172 617467 HGNC:24886 "ENST00000398540.8|NM_015123.3" +HGNC:28214 FRMD5 FERM domain containing 5 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 MGC14161 FERM domain containing 1293 2005-07-20 2015-08-25 84978 ENSG00000171877 OTTHUMG00000060475 uc001ztl.5 BC007796 NM_032892 "CCDS10107|CCDS73715|CCDS73716" Q7Z6J6 MGI:2442557 RGD:1561554 616309 HGNC:28214 "ENST00000417257.6|NM_032892.5" +HGNC:19839 FRMD6 FERM domain containing 6 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "MGC17921|willin|EX1" expanded homolog C14orf31 chromosome 14 open reading frame 31 FERM domain containing 1293 2002-11-27 2005-07-20 2005-07-20 2015-08-25 122786 ENSG00000139926 OTTHUMG00000140294 uc001wzb.5 BI465118 NM_152330 "CCDS9704|CCDS58318|CCDS58319" Q96NE9 MGI:2442579 RGD:727810 614555 HGNC:19839 "ENST00000344768.10|NM_001267046.2" +HGNC:20129 FRMD6-AS1 FRMD6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q22.1 14q22.1 C14orf82 "chromosome 14 open reading frame 82|FRMD6 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2002-12-18 2011-12-07 2012-08-15 2016-10-05 145438 ENSG00000273888 OTTHUMG00000186832 uc021rtc.2 NR_037676 P0C7T7 FRMD6-AS1 HGNC:20129 +HGNC:43637 FRMD6-AS2 FRMD6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 14q22.1 14q22.1 FRMD6 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-12-07 2012-08-15 2021-01-15 100874185 ENSG00000258537 OTTHUMG00000171076 uc031qon.1 NR_047477 31917993 FRMD6-AS2 HGNC:43637 +HGNC:8079 FRMD7 FERM domain containing 7 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 FLJ43346 "NYS|NYS1" nystagmus 1, congenital FERM domain containing 1293 2001-06-22 2006-09-01 2006-09-01 2021-04-13 90167 ENSG00000165694 OTTHUMG00000022421 uc004ewn.4 AL161984 NM_194277 "CCDS78504|CCDS35397" Q6ZUT3 "2063919|17013395" MGI:2686379 RGD:1562057 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FRMD7|LRG_867|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_867.xml" 300628 121933 HGNC:8079 "ENST00000298542.9|NM_194277.3" HGNC:8079 +HGNC:25462 FRMD8 FERM domain containing 8 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FLJ90369|FKSG44|iTAP" iRhom Tail-Associated Protein FERM domain containing 1293 2007-08-14 2019-02-21 83786 ENSG00000126391 OTTHUMG00000166275 uc001odu.5 AK074850 NM_031904 "CCDS73320|CCDS76432|CCDS8102" Q9BZ67 29897336 MGI:1914707 RGD:1310323 618337 HGNC:25462 "ENST00000317568.10|NM_031904.5" +HGNC:24690 FRMD8P1 FERM domain containing 8 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 FKSG43 2011-12-01 2021-10-07 83957 ENSG00000227942 OTTHUMG00000021721 NR_033742 Q9BZ68 MGI:1914707 PGOHUM00000241357 HGNC:24690 +HGNC:29159 FRMPD1 FERM and PDZ domain containing 1 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "KIAA0967|FRMD2" "PDZ domain containing|FERM domain containing" "1220|1293" 2004-01-05 2016-10-05 22844 ENSG00000070601 OTTHUMG00000019927 uc004aag.2 AB023184 NM_014907 CCDS6612 Q5SYB0 10231032 MGI:2446274 RGD:1305229 616919 HGNC:29159 "ENST00000377765.8|NM_014907.3" +HGNC:28572 FRMPD2 FERM and PDZ domain containing 2 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 MGC35285 "PDZD5C|PDZK5C" PDZ domain containing 5C "PDZ domain containing|FERM domain containing" "1220|1293" 2004-04-15 2016-10-05 143162 ENSG00000170324 OTTHUMG00000018171 uc001jgi.5 AK123038 NM_152428 "CCDS81460|CCDS31195" Q68DX3 MGI:2685472 RGD:1565652 613323 HGNC:28572 "ENST00000374201.8|NM_001018071.4" +HGNC:16843 FRMPD2B FERM and PDZ domain containing 2B, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 "yX59F3.2|bA556L1.2" "PDZK5A|PDZD5A|FRMPD2L1|FRMPD2P2|PDZK5B|PDZD5B|FRMPD2L2|FRMPD2P1" "PDZ domain containing 5A|FERM and PDZ domain containing 2 like 1|FERM and PDZ domain containing 2 pseudogene 2|PDZ domain containing 5B|FERM and PDZ domain containing 2 like 2|FERM and PDZ domain containing 2 pseudogene 1" PDZ domain containing 1220 2004-07-09 2014-07-15 2014-07-15 2020-04-20 728798 ENSG00000150175 OTTHUMG00000018093 NR_033172 Q6IN97 PGOHUM00000290148 HGNC:16843 +HGNC:29382 FRMPD3 FERM and PDZ domain containing 3 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "RP5-1070B1.1|KIAA1817" "PDZ domain containing|FERM domain containing" "1220|1293" 2006-02-09 2020-04-02 84443 ENSG00000147234 OTTHUMG00000022165 uc033eqj.1 AB058720 NM_032428 CCDS76006 Q5JV73 11347906 MGI:3646547 RGD:1563753 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FRMPD3 301005 HGNC:29382 "ENST00000683843.1|NM_001388459.1" +HGNC:41239 FRMPD3-AS1 FRMPD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.3 Xq22.3 FRMPD3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874122 ENSG00000227610 OTTHUMG00000022164 uc033eqi.2 NR_046750 FRMPD3-AS1 HGNC:41239 +HGNC:29007 FRMPD4 FERM and PDZ domain containing 4 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 KIAA0316 "PDZK10|PDZD10" PDZ domain containing 10 "PDZ domain containing|FERM domain containing" "1220|1293" 2004-06-14 2006-02-09 2006-02-09 2020-04-02 9758 ENSG00000169933 OTTHUMG00000021138 uc004cuz.2 AB002314 NM_014728 CCDS35201 Q14CM0 9205841 MGI:3042378 RGD:1566031 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FRMPD4 300838 468801 HGNC:29007 "ENST00000675598.1|NM_001368397.1" HGNC:29007 +HGNC:41222 FRMPD4-AS1 FRMPD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 FRMPD4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874121 ENSG00000223487 OTTHUMG00000021135 uc064xzq.1 NR_046743 FRMPD4-AS1 +HGNC:27622 FRRS1 ferric chelate reductase 1 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 SDR2 SDFR2 "stromal cell derived factor receptor 2 homolog (mouse)|ferric-chelate reductase 1" 2005-08-01 2006-02-22 2016-01-21 2016-10-05 391059 ENSG00000156869 OTTHUMG00000010768 uc001dsh.1 AK131302 NM_001013660 CCDS30780 Q6ZNA5 MGI:108076 RGD:1306883 611578 HGNC:27622 "ENST00000646001.2|NM_001361041.2" +HGNC:1362 FRRS1L ferric chelate reductase 1 like protein-coding gene gene with protein product Approved 9q31.3 09q31.3 CG-6 C9orf4 "chromosome 9 open reading frame 4|ferric-chelate reductase 1-like" 1999-01-28 2012-03-06 2016-01-21 2016-01-21 23732 ENSG00000260230 OTTHUMG00000020468 uc004bdv.4 AF155065 NM_014334 CCDS35098 Q9P0K9 10603000 MGI:2442704 RGD:1309978 604574 HGNC:1362 "ENST00000561981.5|NM_014334.4" HGNC:1362 +HGNC:16971 FRS2 fibroblast growth factor receptor substrate 2 protein-coding gene gene with protein product Approved 12q15 12q15 "SNT-1|FRS2alpha|SNT1|FRS2A" 2003-05-23 2019-08-20 10818 ENSG00000166225 OTTHUMG00000169373 uc009zrk.5 AF036717 NM_006654 CCDS41809 Q8WU20 "8761293|9660748" MGI:1100860 RGD:1308201 607743 HGNC:16971 "ENST00000549921.6|NM_001278356.2" +HGNC:16970 FRS3 fibroblast growth factor receptor substrate 3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "SNT-2|FRS2beta|FRS2B" 2003-05-23 2015-08-25 10817 ENSG00000137218 OTTHUMG00000014686 uc003orc.3 AF036718 NM_006653 CCDS4860 O43559 "8761293|9660748" MGI:2135965 RGD:1310226 607744 HGNC:16970 "ENST00000373018.7|NM_006653.5" +HGNC:20367 FRY FRY microtubule binding protein protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "bA37E23.1|13CDNA73|CG003" C13orf14 "chromosome 13 open reading frame 14|furry homolog (Drosophila)" Armadillo like helical domain containing 1492 2004-04-16 2005-11-24 2015-11-13 2019-07-24 10129 ENSG00000073910 OTTHUMG00000016696 uc001utx.4 AL049784 NM_023037 CCDS41875 Q5TBA9 "8812419|14702039|23886946" MGI:2443895 RGD:1307034 614818 HGNC:20367 "ENST00000542859.6|NM_023037.3" +HGNC:39725 FRY-AS1 FRY antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 FRY antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-24 2012-08-15 2014-11-19 100507099 ENSG00000237637 OTTHUMG00000016692 uc001utw.5 BC035084 NR_103839 FRY-AS1 HGNC:39725 +HGNC:29127 FRYL FRY like transcription coactivator protein-coding gene gene with protein product Approved 4p11 04p11 "DKFZp686E205|AF4p12|MOR2" mor2 cell polarity protein homolog (S. pombe) KIAA0826 "KIAA0826|furry homolog-like (Drosophila)|FRY like" Armadillo like helical domain containing 1492 2004-09-15 2005-11-24 2015-11-13 2019-07-25 285527 ENSG00000075539 OTTHUMG00000160608 uc003gyh.1 AL833170 NM_015030 CCDS43227 O94915 "10048485|23022380" MGI:1919563 RGD:1311309 HGNC:29127 "ENST00000358350.9|NM_015030.2" +HGNC:3959 FRZB frizzled related protein protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "FRZB-PEN|FRZB1|SRFP3|FRP-3|SFRP3|FRE|FRITZ|FRZB-1|FZRB|hFIZ" secreted frizzled-related protein 3 Secreted frizzled-related proteins 733 1998-07-15 2017-10-24 2017-10-24 2487 ENSG00000162998 OTTHUMG00000132597 uc002upa.4 U24163 NM_001463 CCDS2286 Q92765 "8824257|9118218" MGI:892032 RGD:1311315 605083 ligandId:3693 HGNC:3959 "ENST00000295113.5|NM_001463.4" +HGNC:43653 FSBP fibrinogen silencer binding protein protein-coding gene gene with protein product Approved 8q22.1 08q22.1 2012-01-10 2015-09-07 100861412 ENSG00000265817 OTTHUMG00000178341 uc003ygm.4 NM_001256141 CCDS59106 O95073 20531236 MGI:5301008 RGD:7611658 616306 HGNC:43653 "ENST00000481490.3|NM_001256141.2" +HGNC:20494 FSCB fibrous sheath CABYR binding protein protein-coding gene gene with protein product Approved 14q21.2 14q21.2 DKFZP434F1017 C14orf155 chromosome 14 open reading frame 155 2004-06-11 2007-11-22 2007-11-22 2016-10-05 84075 ENSG00000189139 OTTHUMG00000140262 uc001wvn.4 AK124110 NM_032135 CCDS9679 Q5H9T9 17855365 MGI:3646964 RGD:1561721 611779 HGNC:20494 "ENST00000340446.5|NM_032135.4" HGNC:20494 +HGNC:11148 FSCN1 fascin actin-bundling protein 1 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "p55|FLJ38511" "Singed, drosophila, homolog-like|actin bundling protein" SNL "singed (Drosophila)-like (sea urchin fascin homolog like)|fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)" Fascin family 3 1995-01-16 2002-09-20 2014-02-03 2016-10-05 6624 ENSG00000075618 OTTHUMG00000090599 uc003sou.4 U03057 NM_003088 CCDS5342 Q16658 "8068206|10783262" MGI:1352745 RGD:1583309 602689 HGNC:11148 "ENST00000382361.8|NM_003088.4" +HGNC:49669 FSCN1P1 fascin actin-bundling protein 1 pseudogene 1 pseudogene pseudogene Approved 15q14 15q14 2014-02-03 2014-02-03 145989 ENSG00000261559 OTTHUMG00000173389 NG_002332 PGOHUM00000258955 HGNC:49669 +HGNC:3960 FSCN2 fascin actin-bundling protein 2, retinal protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "RP30|RFSN" retinal fascin "fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)|fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)" Fascin family 3 2000-02-29 2014-02-03 2021-05-26 25794 ENSG00000186765 OTTHUMG00000167477 uc010wup.3 AF030165 NM_012418 "CCDS45810|CCDS45811" O14926 10234509 MGI:2443337 RGD:1308941 Mutations of the Fascin Gene|http://www.retina-international.org/files/sci-news/fscn2mut.htm 607643 121938 HGNC:3960 "ENST00000417245.7|NM_012418.4" HGNC:3960 +HGNC:3961 FSCN3 fascin actin-bundling protein 3 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)|fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)|fascin actin-bundling protein 3, testicular" Fascin family 3 2000-02-29 2015-11-26 2016-10-05 29999 ENSG00000106328 OTTHUMG00000022935 uc003vmd.3 NM_020369 CCDS34746 Q9NQT6 11925108 MGI:1890386 RGD:1303047 615800 HGNC:3961 "ENST00000265825.6|NM_020369.3" +HGNC:13745 FSD1 fibronectin type III and SPRY domain containing 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC3213|MIR1" fibronectin type 3 and SPRY domain containing 1 Fibronectin type III domain containing 555 2003-11-10 2005-03-01 2019-07-24 79187 ENSG00000105255 OTTHUMG00000181881 uc002lzy.3 AF316829 NM_024333 "CCDS82277|CCDS12127" Q9BTV5 11267680 MGI:1934858 RGD:1583850 609828 HGNC:13745 "ENST00000221856.11|NM_024333.3" +HGNC:13753 FSD1L fibronectin type III and SPRY domain containing 1 like protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "CSDUFD1|CCDC10|FSD1NL|FSD1CL" "cystatin and DUF19 domain containing 1|coiled-coil domain containing 10|fibronectin type III and SPRY domain containing 1-like" Fibronectin type III domain containing 555 2001-12-05 2006-03-10 2016-03-15 2016-10-05 83856 ENSG00000106701 OTTHUMG00000020426 uc033ded.2 AF316830 NM_207647 "CCDS83391|CCDS75870|CCDS6764|CCDS6765|CCDS47999" Q9BXM9 11267680 MGI:2442443 RGD:1564809 609829 HGNC:13753 "ENST00000481272.6|NM_001145313.3" +HGNC:18024 FSD2 fibronectin type III and SPRY domain containing 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 RP11-127F21 minispryn SPRYD1 SPRY domain containing 1 Fibronectin type III domain containing 555 2002-01-29 2006-01-11 2006-01-11 2020-01-06 123722 ENSG00000186628 OTTHUMG00000172400 uc002bjd.4 AK122875 NM_001007122 "CCDS45332|CCDS61738" A1L4K1 28740084 MGI:2444310 RGD:1305167 HGNC:18024 "ENST00000334574.12|NM_001007122.4" +HGNC:3964 FSHB follicle stimulating hormone subunit beta protein-coding gene gene with protein product Approved 11p14.1 11p14.1 follitropin, beta chain follicle stimulating hormone, beta polypeptide "Receptor ligands|Glycoprotein hormone subunits" "542|1896" 1986-01-01 2018-04-23 2021-05-26 2488 ENSG00000131808 OTTHUMG00000166146 uc001msm.4 NM_000510 CCDS7868 P01225 "2885163|3151250" MGI:95582 RGD:2630 136530 121941 ligandId:3733 HGNC:3964 "ENST00000533718.2|NM_001382289.1" HGNC:3964 +HGNC:3969 FSHR follicle stimulating hormone receptor protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "FSHRO|LGR1" ODG1 Glycoprotein hormone receptors 199 1991-07-09 2021-05-26 2492 ENSG00000170820 OTTHUMG00000129259 uc002rww.4 NM_000145 "CCDS1843|CCDS1844" P23945 "8230163|8855829" MGI:95583 RGD:2632 LRG_536|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_536.xml 136435 121943 objectId:253 HGNC:3969 "ENST00000406846.7|NM_000145.4" HGNC:3969 +HGNC:21674 FSIP1 fibrous sheath interacting protein 1 protein-coding gene gene with protein product Approved 15q14 15q14 FLJ35989 2004-06-21 2014-11-19 161835 ENSG00000150667 OTTHUMG00000172456 uc001zki.4 BC045191 NM_152597 CCDS10050 Q8NA03 14702039 MGI:1918563 RGD:1306874 615795 HGNC:21674 "ENST00000350221.4|NM_152597.5" +HGNC:21675 FSIP2 fibrous sheath interacting protein 2 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 FLJ34780 2004-06-21 2020-04-20 401024 ENSG00000188738 OTTHUMG00000153874 uc002upl.3 AK092099 NM_173651 CCDS54426 Q5CZC0 14702039 MGI:2664111 RGD:1593013 615796 HGNC:21675 "ENST00000424728.6|NM_173651.4" HGNC:21675 +HGNC:40978 FSIP2-AS1 FSIP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.1 02q32.1 Antisense RNAs 1987 2014-07-29 2020-04-20 107985781 ENSG00000231646 OTTHUMG00000155450 NR_144453 FSIP2-AS1 HGNC:40978 +HGNC:54061 FSIP2-AS2 FSIP2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2q32.1 02q32.1 Antisense RNAs 1987 2018-09-27 2018-09-27 101927196 ENSG00000226747 NR_110217 HGNC:54061 +HGNC:55625 FSIP2LP fibrous sheath interacting protein 2 like, pseudogene pseudogene pseudogene Approved Xq26.1 Xq26.1 2021-06-23 2021-06-23 100130684 ENSG00000274775 NG_029274 MGI:2685441 PGOHUM00000304846 +HGNC:3971 FST follistatin protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FS 1999-09-07 2015-08-25 10468 ENSG00000134363 OTTHUMG00000131183 uc003jpd.4 M19481 NM_013409 "CCDS43315|CCDS3959" P19883 "10411917|3380788" MGI:95586 RGD:2633 136470 I01.966 ligandId:4933 HGNC:3971 "ENST00000256759.8|NM_013409.3" +HGNC:3972 FSTL1 follistatin like 1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "FRP|FSL1|OCC1|OCC-1|tsc36" follistatin-like 1 "SPARC family|MicroRNA protein coding host genes" "1278|1691" 1999-09-07 2015-11-11 2016-06-09 11167 ENSG00000163430 OTTHUMG00000159440 uc003eds.4 U06863 NM_007085 CCDS2998 Q12841 "7957230|9786430" MGI:102793 RGD:68955 605547 I01.967 HGNC:3972 "ENST00000295633.8|NM_007085.5" +HGNC:3973 FSTL3 follistatin like 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLRG|FSRP" follistatin-related protein follistatin-like 3 (secreted glycoprotein) 1999-09-07 2016-01-21 2016-10-05 10272 ENSG00000070404 OTTHUMG00000180593 uc002lpk.3 U76702 NM_005860 CCDS12040 O95633 "9671416|15527507" MGI:1890391 RGD:621811 FSTL3 605343 I01.968 HGNC:3973 "ENST00000166139.9|NM_005860.3" +HGNC:21389 FSTL4 follistatin like 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 KIAA1061 follistatin-like 4 "I-set domain containing|EF-hand domain containing|MicroRNA protein coding host genes" "593|863|1691" 2004-04-05 2016-01-21 2018-11-15 23105 ENSG00000053108 OTTHUMG00000162729 uc003kyn.2 AB028984 NM_015082 CCDS34238 Q6MZW2 "10470851|15527507" MGI:2443199 RGD:1307227 I01.977 HGNC:21389 "ENST00000265342.12|NM_015082.2" +HGNC:21386 FSTL5 follistatin like 5 protein-coding gene gene with protein product Approved 4q32.2 04q32.2 "DKFZp566D234|KIAA1263" follistatin-like 5 "I-set domain containing|EF-hand domain containing" "593|863" 2004-04-05 2016-01-21 2016-10-05 56884 ENSG00000168843 OTTHUMG00000161397 uc003iqh.5 BC036502 NM_020116 "CCDS47158|CCDS47157|CCDS3802" Q8N475 "10574462|15527507" MGI:2442179 RGD:1306858 I01.977 HGNC:21386 "ENST00000306100.10|NM_020116.5" +HGNC:3974 FTCD formimidoyltransferase cyclodeaminase protein-coding gene gene with protein product Approved 21q22.3 21q22.3 formiminotransferase cyclodeaminase 1999-07-23 2013-06-10 2015-08-25 10841 ENSG00000160282 OTTHUMG00000090488 uc010gqg.2 U91541 NM_006657 "CCDS82684|CCDS13731" O95954 "10029623|10773664" MGI:1339962 RGD:70915 606806 121951 "2.1.2.5|4.3.1.4" HGNC:3974 "ENST00000397746.8|NM_206965.2" HGNC:3974 +HGNC:40243 FTCD-AS1 FTCD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 FTCD antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100861507 ENSG00000237338 OTTHUMG00000090486 uc062ayk.1 "AA905381|AI217733" NR_170989 FTCD-AS1 HGNC:40243 +HGNC:48661 FTCDNL1 formiminotransferase cyclodeaminase N-terminal like protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FONG formiminotransferase N-terminal sub-domain containing gene 2013-06-01 2017-11-27 348751 ENSG00000226124 OTTHUMG00000154481 BC039445 NM_001350853 "CCDS86908|CCDS86906|CCDS86907|CCDS86909" E5RQL4 21573128 614308 HGNC:48661 "ENST00000420128.6|NM_001363886.2" +HGNC:3976 FTH1 ferritin heavy chain 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FTH|PLIF|PIG15|FHC" "apoferritin|placenta immunoregulatory factor|proliferation-inducing protein 15" FTHL6 ferritin, heavy polypeptide 1 Ferritin subunits 1455 2001-06-22 2016-05-20 2016-10-05 2495 ENSG00000167996 OTTHUMG00000166217 uc001nsu.3 NM_002032 CCDS41655 P02794 3020541 MGI:95588 RGD:2635 134770 159608 HGNC:3976 "ENST00000273550.12|NM_002032.3" HGNC:3976 +HGNC:3979 FTH1P1 ferritin heavy chain 1 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 FTHL1 "ferritin, heavy polypeptide-like 1|ferritin, heavy polypeptide 1 pseudogene" 2001-06-22 2010-10-13 2016-05-20 2016-05-20 2496 ENSG00000232273 OTTHUMG00000004219 NG_004768 3862645 HGNC:3979 +HGNC:3989 FTH1P2 ferritin heavy chain 1 pseudogene 2 pseudogene pseudogene Approved 1q42.13 01q42.13 FTHL2 "ferritin, heavy polypeptide-like 2|ferritin, heavy polypeptide 1 pseudogene 2" 2001-06-22 2010-10-13 2016-05-20 2016-05-20 2497 ENSG00000234975 OTTHUMG00000037918 NR_002200 3862645 PGOHUM00000245244 HGNC:3989 +HGNC:3990 FTH1P3 ferritin heavy chain 1 pseudogene 3 pseudogene pseudogene Approved 2p23.3 02p23.3 FTHL3 "ferritin, heavy polypeptide-like 3|ferritin, heavy polypeptide 1 pseudogene 3" 2001-06-22 2010-10-13 2016-05-20 2018-07-05 2498 ENSG00000213453 OTTHUMG00000151928 NR_002201 "3862645|29971911" HGNC:3990 +HGNC:3991 FTH1P4 ferritin heavy chain 1 pseudogene 4 pseudogene pseudogene Approved 3q21.3 03q21.3 FTHL4 "ferritin, heavy polypeptide-like 4|ferritin, heavy polypeptide 1 pseudogene 4" 2001-06-22 2010-10-13 2016-05-20 2016-05-20 2499 ENSG00000242992 OTTHUMG00000159811 NG_004769 3862645 HGNC:3991 +HGNC:3996 FTH1P5 ferritin heavy chain 1 pseudogene 5 pseudogene pseudogene Approved 6p12.3 06p12.3 "FTHP1|FTHL5" "ferritin, heavy polypeptide pseudogene 1|ferritin, heavy polypeptide-like 5|ferritin, heavy polypeptide 1 pseudogene 5" 2001-06-22 2010-10-13 2016-05-20 2016-05-20 2509 ENSG00000230204 OTTHUMG00000014835 J04755 NG_005639 2307464 HGNC:3996 +HGNC:39088 FTH1P6 ferritin heavy chain 1 pseudogene 6 pseudogene pseudogene Approved 2p16.2 02p16.2 ferritin, heavy polypeptide 1 pseudogene 6 2010-10-14 2016-05-20 2016-10-05 106481787 ENSG00000233083 OTTHUMG00000151801 NG_043893 PGOHUM00000298436 HGNC:39088 +HGNC:3994 FTH1P7 ferritin heavy chain 1 pseudogene 7 pseudogene pseudogene Approved 13q12.12 13q12.12 FTHL7 "ferritin, heavy polypeptide-like 7|ferritin, heavy polypeptide 1 pseudogene 7" 2001-06-22 2010-10-13 2016-05-20 2016-10-05 2500 ENSG00000232187 OTTHUMG00000016551 NR_002202 3862645 HGNC:3994 +HGNC:3995 FTH1P8 ferritin heavy chain 1 pseudogene 8 pseudogene pseudogene Approved Xq28 Xq28 FTHL8 "ferritin, heavy polypeptide-like 8|ferritin, heavy polypeptide 1 pseudogene 8" 2001-06-22 2010-10-13 2016-05-20 2016-05-20 2501 ENSG00000219507 OTTHUMG00000022607 NR_002203 3862645 HGNC:3995 +HGNC:39089 FTH1P9 ferritin heavy chain 1 pseudogene 9 pseudogene pseudogene Approved 5q14.2 05q14.2 ferritin, heavy polypeptide 1 pseudogene 9 2010-10-14 2016-05-20 2016-05-20 106478936 ENSG00000251395 OTTHUMG00000162568 NG_043625 PGOHUM00000235682 HGNC:39089 +HGNC:3980 FTH1P10 ferritin heavy chain 1 pseudogene 10 pseudogene pseudogene Approved 5p15.1 05p15.1 FTHL10 "ferritin, heavy polypeptide-like 10|ferritin, heavy polypeptide 1 pseudogene 10" 2001-06-22 2010-10-13 2016-05-20 2016-05-20 2502 ENSG00000223361 OTTHUMG00000161872 NG_003028 "3862645|2821803" HGNC:3980 +HGNC:3981 FTH1P11 ferritin heavy chain 1 pseudogene 11 pseudogene pseudogene Approved 8q21.13 08q21.13 FTHL11 "ferritin, heavy polypeptide-like 11|ferritin, heavy polypeptide 1 pseudogene 11" 2001-06-22 2010-10-13 2016-05-20 2016-05-20 2503 ENSG00000237264 OTTHUMG00000164678 NR_002204 3862645 PGOHUM00000249405 HGNC:3981 +HGNC:3982 FTH1P12 ferritin heavy chain 1 pseudogene 12 pseudogene pseudogene Approved 9p22.3 09p22.3 FTHL12 "ferritin, heavy polypeptide-like 12|ferritin, heavy polypeptide 1 pseudogene 12" 2001-06-22 2010-10-13 2016-05-20 2016-05-20 2504 ENSG00000213362 OTTHUMG00000019586 NR_002205 3862645 HGNC:3982 +HGNC:3983 FTH1P13 ferritin heavy chain 1 pseudogene 13 pseudogene pseudogene Approved 14q23.3 14q23.3 "FTHP3|FTHL13" "ferritin, heavy polypeptide pseudogene 3|ferritin, heavy polypeptide-like 13|ferritin, heavy polypeptide 1 pseudogene 13" 1986-01-01 2010-10-13 2016-05-20 2020-04-07 646362 ENSG00000258960 OTTHUMG00000171175 U26556 NG_007334 "2821803|3862645" PGOHUM00000247834 HGNC:3983 +HGNC:39090 FTH1P14 ferritin heavy chain 1 pseudogene 14 pseudogene pseudogene Approved Xp21.1 Xp21.1 ferritin, heavy polypeptide 1 pseudogene 14 2010-10-14 2016-05-20 2016-05-20 139431 ENSG00000185638 OTTHUMG00000021340 NG_023176 HGNC:39090 +HGNC:3985 FTH1P15 ferritin heavy chain 1 pseudogene 15 pseudogene pseudogene Approved 6p12.1 06p12.1 FTHL15 "ferritin, heavy polypeptide-like 15|ferritin, heavy polypeptide 1 pseudogene 15" 1990-05-08 2010-10-13 2016-05-20 2016-05-20 2507 ENSG00000218980 OTTHUMG00000014912 U09960 NG_007335 8045562 PGOHUM00000258218 HGNC:3985 +HGNC:3986 FTH1P16 ferritin heavy chain 1 pseudogene 16 pseudogene pseudogene Approved 11q14.1 11q14.1 "FTH2|FTHL16" "ferritin, heavy polypeptide-like 16|ferritin, heavy polypeptide 1 pseudogene 16" 1991-09-11 2010-10-13 2016-05-20 2016-05-20 2508 ENSG00000227376 OTTHUMG00000150432 X03486 XR_017932 1395714 HGNC:3986 +HGNC:33525 FTH1P19 ferritin heavy chain 1 pseudogene 19 pseudogene pseudogene Approved Xp21.1 Xp21.1 FTHL19 "ferritin, heavy polypeptide-like 19|ferritin, heavy polypeptide 1 pseudogene 19" 2007-07-17 2010-10-13 2016-05-20 2016-05-20 389844 ENSG00000219186 OTTHUMG00000033179 XM_372202 P0C7X4 PGOHUM00000241709 HGNC:33525 +HGNC:37639 FTH1P20 ferritin heavy chain 1 pseudogene 20 pseudogene pseudogene Approved 2q31.3 02q31.3 FTHL20 "ferritin, heavy polypeptide-like 20|ferritin, heavy polypeptide 1 pseudogene 20" 2009-12-03 2010-10-13 2016-05-20 2016-05-20 729009 ENSG00000226564 OTTHUMG00000154191 NG_023542 HGNC:37639 +HGNC:3997 FTH1P21 ferritin heavy chain 1 pseudogene 21 pseudogene pseudogene Approved 4q32.1 04q32.1 "FTHP2|FTHL21" "ferritin, heavy polypeptide pseudogene 2|ferritin, heavy polypeptide-like 21|ferritin, heavy polypeptide 1 pseudogene 21" 1993-10-28 2010-10-13 2016-05-20 2016-05-20 2510 ENSG00000249013 OTTHUMG00000161779 U09962 NG_001121 7612929 PGOHUM00000246113 HGNC:3997 +HGNC:37640 FTH1P22 ferritin heavy chain 1 pseudogene 22 pseudogene pseudogene Approved 1p13.1 01p13.1 FTHL22 "ferritin, heavy polypeptide-like 22|ferritin, heavy polypeptide 1 pseudogene 22" 2009-12-03 2010-10-13 2016-05-20 2016-05-20 100462772 ENSG00000225079 OTTHUMG00000022797 NG_022736 PGOHUM00000244158 HGNC:37640 +HGNC:37641 FTH1P23 ferritin heavy chain 1 pseudogene 23 pseudogene pseudogene Approved 3p13 03p13 FTHL23 "ferritin, heavy polypeptide-like 23|ferritin, heavy polypeptide 1 pseudogene 23" 2009-12-03 2010-10-13 2016-05-20 2016-05-20 100420300 ENSG00000242960 OTTHUMG00000158783 NG_025708 PGOHUM00000238065 HGNC:37641 +HGNC:37642 FTH1P24 ferritin heavy chain 1 pseudogene 24 pseudogene pseudogene Approved 4q31.1 04q31.1 FTHL24 "ferritin, heavy polypeptide-like 24|ferritin, heavy polypeptide 1 pseudogene 24" 2009-12-03 2010-10-13 2016-05-20 2016-05-20 100462797 ENSG00000249302 OTTHUMG00000161273 NG_022082 PGOHUM00000246088 HGNC:37642 +HGNC:37643 FTH1P25 ferritin heavy chain 1 pseudogene 25 pseudogene pseudogene Approved 1q25.3 01q25.3 FTHL25 "ferritin, heavy polypeptide-like 25|ferritin, heavy polypeptide 1 pseudogene 25" 2009-12-03 2010-10-13 2016-05-20 2016-05-20 100462799 ENSG00000232792 OTTHUMG00000035392 NG_022745 HGNC:37643 +HGNC:37644 FTH1P26 ferritin heavy chain 1 pseudogene 26 pseudogene pseudogene Approved 6q23.2 06q23.2 FTHL26 "ferritin, heavy polypeptide-like 26|ferritin, heavy polypeptide 1 pseudogene 26" 2009-12-03 2010-10-13 2016-05-20 2016-05-20 100420303 ENSG00000218213 OTTHUMG00000015605 NG_028813 HGNC:37644 +HGNC:39091 FTH1P27 ferritin heavy chain 1 pseudogene 27 pseudogene pseudogene Approved Xp21.1 Xp21.1 ferritin, heavy polypeptide 1 pseudogene 27 2010-10-14 2016-05-20 2016-05-20 100270709 ENSG00000234355 OTTHUMG00000033173 NG_009568 PGOHUM00000241710 HGNC:39091 +HGNC:3987 FTHL17 ferritin heavy chain like 17 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 CT38 cancer/testis antigen 38 ferritin, heavy polypeptide-like 17 Ferritin subunits 1455 2000-05-31 2016-05-20 2020-04-02 53940 ENSG00000132446 OTTHUMG00000021332 uc004dcl.1 AF285592 NM_031894 CCDS14227 Q9BXU8 25749565 MGI:1919246 RGD:1584678 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FTHL17 300308 HGNC:3987 "ENST00000359202.5|NM_031894.3" +HGNC:3988 FTHL18P ferritin heavy chain like 18, pseudogene pseudogene pseudogene Approved Xp21.1 Xp21.1 "FTH1P18|FTHL18" "ferritin, heavy polypeptide-like 18|ferritin, heavy polypeptide 1 pseudogene 18|ferritin heavy chain 1 pseudogene 18|ferritin heavy chain like 18" 2000-05-31 2021-03-08 2021-03-08 2021-03-08 441490 ENSG00000243048 OTTHUMG00000033090 AA383232 NR_171164 RGD:1594594 PGOHUM00000241234 HGNC:3988 +HGNC:3999 FTL ferritin light chain protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MGC71996|NBIA3" "ferritin light polypeptide-like 3|L apoferritin|ferritin L subunit|ferritin light chain|ferritin L-chain|neurodegeneration with brain iron accumulation 3" ferritin, light polypeptide Ferritin subunits 1455 2001-06-22 2016-06-22 2016-06-22 2512 ENSG00000087086 OTTHUMG00000183332 uc002plo.4 AY207005 NM_000146 CCDS33070 P02792 "3000916|9526618" MGI:95589 RGD:61813 134790 121953 HGNC:3999 "ENST00000331825.11|NM_000146.4" HGNC:3999 +HGNC:16547 FTLP1 ferritin light chain pseudogene 1 pseudogene pseudogene Approved 20q13.12 20q13.12 bA465L10.3 FTLP "ferritin, light polypeptide pseudogene|ferritin, light polypeptide pseudogene 1" 2001-09-17 2010-03-12 2016-06-22 2016-06-22 170514 ENSG00000235525 OTTHUMG00000032630 AL162458 NG_001037 PGOHUM00000247549 HGNC:16547 +HGNC:4001 FTLP2 ferritin light chain pseudogene 2 pseudogene pseudogene Approved Xp21.2 Xp21.2 FTLL2 "ferritin, light polypeptide-like 2|ferritin, light polypeptide-like 2 pseudogene|ferritin, light polypeptide pseudogene 2" 2001-06-22 2010-03-12 2016-06-22 2020-04-20 392437 ENSG00000232368 OTTHUMG00000021327 XR_017149 PGOHUM00000241690 HGNC:4001 +HGNC:4000 FTLP3 ferritin light chain pseudogene 3 pseudogene pseudogene Approved 20p13 20p13 dJ681N20.2 FTLL1 "ferritin, light polypeptide-like 1|ferritin, light polypeptide pseudogene 3" 2001-06-22 2010-03-12 2016-06-22 2016-06-22 284764 ENSG00000226608 OTTHUMG00000031769 NG_002715 "3000916|2821803" HGNC:4000 +HGNC:37952 FTLP4 ferritin light chain pseudogene 4 pseudogene pseudogene Approved 9p21.1 09p21.1 ferritin, light polypeptide pseudogene 4 2010-03-12 2016-06-22 2016-06-22 100129251 ENSG00000214020 OTTHUMG00000019732 NG_023019 PGOHUM00000236426 HGNC:37952 +HGNC:37953 FTLP5 ferritin light chain pseudogene 5 pseudogene pseudogene Approved 19p13.3 19p13.3 ferritin, light polypeptide pseudogene 5 2010-03-12 2016-06-22 2016-07-25 100131661 ENSG00000266989 OTTHUMG00000180809 NG_022975 PGOHUM00000295166 HGNC:37953 +HGNC:37954 FTLP6 ferritin light chain pseudogene 6 pseudogene pseudogene Approved 11q13.2 11q13.2 ferritin, light polypeptide pseudogene 6 2010-03-12 2016-06-22 2016-06-22 100462788 ENSG00000254984 OTTHUMG00000167166 NG_021790 PGOHUM00000242333 HGNC:37954 +HGNC:37955 FTLP7 ferritin light chain pseudogene 7 pseudogene pseudogene Approved 11q23.3 11q23.3 ferritin, light polypeptide pseudogene 7 2010-03-12 2016-06-22 2016-06-22 441623 NG_021805 PGOHUM00000242494 HGNC:37955 +HGNC:37956 FTLP8 ferritin light chain pseudogene 8 pseudogene pseudogene Approved 13q32.2 13q32.2 ferritin, light polypeptide pseudogene 8 2010-03-12 2016-06-22 2016-06-22 100462790 ENSG00000232217 OTTHUMG00000017242 NG_021963 PGOHUM00000248472 HGNC:37956 +HGNC:37958 FTLP9 ferritin light chain pseudogene 9 pseudogene pseudogene Approved 4q21.1 04q21.1 ferritin, light polypeptide pseudogene 9 2010-03-12 2016-06-22 2016-06-22 100462780 NG_022015 PGOHUM00000245599 HGNC:37958 +HGNC:37959 FTLP10 ferritin light chain pseudogene 10 pseudogene pseudogene Approved 4q13.2 04q13.2 ferritin, light polypeptide pseudogene 10 2010-03-12 2016-06-22 2016-06-22 100130017 ENSG00000250426 OTTHUMG00000160804 NR_015446 PGOHUM00000245940 HGNC:37959 +HGNC:37960 FTLP11 ferritin light chain pseudogene 11 pseudogene pseudogene Approved 15q13.1 15q13.1 ferritin, light polypeptide pseudogene 11 2010-03-12 2016-06-22 2016-06-22 100289501 NG_023157 PGOHUM00000246704 HGNC:37960 +HGNC:37961 FTLP12 ferritin light chain pseudogene 12 pseudogene pseudogene Approved 17p11.2 17p11.2 ferritin, light polypeptide pseudogene 12 2010-03-12 2016-06-22 2017-10-25 100462792 ENSG00000265095 OTTHUMG00000179839 NG_022455 PGOHUM00000294281 HGNC:37961 +HGNC:37963 FTLP13 ferritin light chain pseudogene 13 pseudogene pseudogene Approved 17p11.2 17p11.2 ferritin, light polypeptide pseudogene 13 2010-03-12 2016-06-22 2017-10-25 100462793 ENSG00000263725 OTTHUMG00000179060 NG_022463 PGOHUM00000294342 HGNC:37963 +HGNC:37964 FTLP14 ferritin light chain pseudogene 14 pseudogene pseudogene Approved 16q22.1 16q22.1 ferritin, light polypeptide pseudogene 14 2010-03-12 2016-06-22 2016-06-22 100462794 ENSG00000260459 OTTHUMG00000176777 NG_022524 HGNC:37964 +HGNC:37965 FTLP15 ferritin light chain pseudogene 15 pseudogene pseudogene Approved 7p12.3 07p12.3 ferritin, light polypeptide pseudogene 15 2010-03-12 2016-06-22 2016-06-22 442304 ENSG00000233952 OTTHUMG00000154754 NG_022533 HGNC:37965 +HGNC:37966 FTLP16 ferritin light chain pseudogene 16 pseudogene pseudogene Approved Xp11.4 Xp11.4 ferritin, light polypeptide pseudogene 16 2010-03-12 2016-06-22 2016-06-22 100420158 ENSG00000229735 OTTHUMG00000024087 NG_022590 PGOHUM00000241238 HGNC:37966 +HGNC:37967 FTLP17 ferritin light chain pseudogene 17 pseudogene pseudogene Approved 1p21.1 01p21.1 ferritin, light polypeptide pseudogene 17 2010-03-12 2016-06-22 2016-06-22 642337 ENSG00000228347 OTTHUMG00000011049 NG_023171 PGOHUM00000244126 HGNC:37967 +HGNC:37968 FTLP18 ferritin light chain pseudogene 18 pseudogene pseudogene Approved 1p34.3 01p34.3 ferritin, light polypeptide pseudogene 18 2010-03-12 2016-06-22 2016-06-22 100462786 ENSG00000230214 OTTHUMG00000004186 NG_022775 PGOHUM00000244673 HGNC:37968 +HGNC:37969 FTLP19 ferritin light chain pseudogene 19 pseudogene pseudogene Approved 10p13 10p13 ferritin, light polypeptide pseudogene 19 2010-03-12 2016-06-22 2016-06-22 100873960 ENSG00000237913 OTTHUMG00000017735 NG_032200 HGNC:37969 +HGNC:17345 FTMT ferritin mitochondrial protein-coding gene gene with protein product Approved 5q23.1 05q23.1 MtF Ferritin subunits 1455 2004-06-25 2015-09-11 94033 ENSG00000181867 OTTHUMG00000128912 uc003kss.4 BC034419 NM_177478 CCDS4128 Q8N4E7 11323407 MGI:1914884 RGD:1306563 608847 HGNC:17345 "ENST00000321339.3|NM_177478.2" +HGNC:24678 FTO FTO alpha-ketoglutarate dependent dioxygenase protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "KIAA1752|MGC5149|ALKBH9" "alkB homolog 9|alpha-ketoglutarate-dependent dioxygenase" "fat mass and obesity associated|FTO, alpha-ketoglutarate dependent dioxygenase" Alkylation repair homologs 401 2007-04-12 2019-01-25 2019-01-25 79068 ENSG00000140718 OTTHUMG00000158780 uc002ehr.4 BC003583 NM_001080432 CCDS32448 Q9C0B1 "17434869|17991826|22002720" MGI:1347093 RGD:1305121 610966 212927 1.14.11.- HGNC:24678 "ENST00000471389.6|NM_001080432.3" HGNC:24678 +HGNC:43758 FTO-IT1 FTO intronic transcript 1 non-coding RNA RNA, long non-coding Approved 16q12.2 16q12.2 FTO intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2012-02-22 2015-02-25 2016-11-11 100505692 uc032eac.2 CA450585 NR_103838 HGNC:43758 +HGNC:43759 FTOP1 FTO pseudogene 1 pseudogene pseudogene Approved 2p21 02p21 fat mass and obesity associated pseudogene 1 2012-02-22 2018-07-04 2018-07-04 100874223 ENSG00000226491 OTTHUMG00000152364 NG_032565 PGOHUM00000240025 HGNC:43759 +HGNC:13254 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "JM23|CDLIV|SPB1|TRM7|TRMT7" tRNA methyltransferase 7 homolog (S. cerevisiae) "MRX9|MRX44" "mental retardation, X-linked 9|mental retardation, X-linked 44|FtsJ RNA methyltransferase homolog 1 (E. coli)|FtsJ RNA methyltransferase homolog 1" 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2001-11-09 2019-01-25 2021-05-26 24140 ENSG00000068438 OTTHUMG00000024118 uc004djo.3 AJ005892 NM_001282157 "CCDS14295|CCDS14294|CCDS75972" Q9UET6 "15342698|15162322" MGI:1859648 RGD:1561061 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FTSJ1 300499 121955 HGNC:13254 "ENST00000348411.3|NM_012280.4" HGNC:13254 +HGNC:17136 FTSJ3 FtsJ RNA 2'-O-methyltransferase 3 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 SPB1 SPB1 RNA methyltransferase homolog (S. cerevisiae) "FtsJ homolog 3 (E. coli)|FtsJ RNA methyltransferase homolog 3" "Armadillo like helical domain containing|7BS 2'O-ribose DNA/RNA methyltransferases" "1492|2062" 2001-11-09 2019-01-25 2019-01-25 117246 ENSG00000108592 OTTHUMG00000179012 uc002jca.3 AF327355 NM_017647 CCDS11644 Q8IY81 30626973 MGI:1860295 RGD:1307110 618411 470354 HGNC:17136 "ENST00000427159.7|NM_017647.4" +HGNC:37190 FTX FTX transcript, XIST regulator non-coding RNA RNA, long non-coding Approved Xq13.2 Xq13.2 "LINC00182|FLJ33139" five prime to XIST "NCRNA00182|MIR374AHG" "non-protein coding RNA 182|mir-374a-545 cluster host gene (non-protein coding)|FTX transcript, XIST regulator (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2009-08-18 2011-04-21 2018-05-16 2018-05-16 100302692 ENSG00000230590 OTTHUMG00000021850 uc064zzg.1 AK057701 NR_028379 "12045143|21254562|21118898" MGI:1926128 RGD:1564124 300936 Ftx FTX HGNC:37190 +HGNC:4004 FUBP1 far upstream element binding protein 1 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FBP FUSE binding protein 1 FUBP far upstream element (FUSE) binding protein 1 1999-01-06 2016-02-04 2021-04-13 8880 ENSG00000162613 OTTHUMG00000040799 uc001dii.4 U05040 NM_003902 CCDS683 Q96AE4 8125259 MGI:1196294 RGD:1591892 LRG_995|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_995.xml FUBP1 603444 HGNC:4004 "ENST00000370768.7|NM_003902.5" +HGNC:4005 FUBP3 far upstream element binding protein 3 protein-coding gene gene with protein product Approved 9q34.11-q34.12 09q34.11-q34.12 FBP3 far upstream element (FUSE) binding protein 3 MicroRNA protein coding host genes 1691 1999-07-22 2016-03-15 2018-02-13 8939 ENSG00000107164 OTTHUMG00000020809 uc004bzr.2 U69127 NM_003934 CCDS43893 Q96I24 8940189 MGI:2443699 RGD:1307004 603536 HGNC:4005 "ENST00000319725.10|NM_003934.2" +HGNC:4006 FUCA1 alpha-L-fucosidase 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "α-L-fucosidase 1|tissue fucosidase|a-L-fucosidase 1" fucosidase, alpha-L- 1, tissue Alpha-L-fucosidases 1653 2001-06-22 2017-06-27 2021-05-26 2517 ENSG00000179163 OTTHUMG00000002965 uc001bie.5 BC017338 NM_000147 CCDS244 P04066 2803312 MGI:95593 RGD:2636 612280 121963 3.2.1.51 HGNC:4006 "ENST00000374479.4|NM_000147.5" HGNC:4006 +HGNC:4007 FUCA1P1 alpha-L-fucosidase 1 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 FUCA1P "fucosidase, alpha-L- 1, tissue pseudogene|fucosidase, alpha-L- 1, tissue pseudogene 1" 2001-06-22 2010-03-12 2017-06-27 2017-06-27 2518 ENSG00000237053 OTTHUMG00000154420 M80816 NG_001122 1977129 PGOHUM00000240438 HGNC:4007 +HGNC:4008 FUCA2 alpha-L-fucosidase 2 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "MGC1314|dJ20N2.5" "α-L-fucosidase 2|plasma fucosidase|a-L-fucosidase 2" fucosidase, alpha-L- 2, plasma Alpha-L-fucosidases 1653 2001-06-22 2017-06-27 2018-04-18 2519 ENSG00000001036 OTTHUMG00000015728 uc003qjm.4 BC003060 NM_032020 CCDS5200 Q9BTY2 6590153 MGI:1914098 RGD:1303053 136820 3.2.1.51 HGNC:4008 "ENST00000002165.11|NM_032020.5" +HGNC:28746 FUNDC1 FUN14 domain containing 1 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 MGC51029 2004-03-16 2020-04-02 139341 ENSG00000069509 OTTHUMG00000021399 uc004dgc.4 BC042813 NM_173794 CCDS14263 Q8IVP5 22267086 MGI:1919268 RGD:1563372 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FUNDC1 300871 HGNC:28746 "ENST00000378045.5|NM_173794.4" +HGNC:24925 FUNDC2 FUN14 domain containing 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "HCBP6|DC44" 2004-08-09 2019-02-21 65991 ENSG00000165775 OTTHUMG00000013504 uc004fmw.4 AF267862 NM_023934 CCDS14763 Q9BWH2 29786068 MGI:1914641 RGD:1560916 301042 HGNC:24925 "ENST00000369498.8|NM_023934.4" +HGNC:17253 FUNDC2P1 FUN14 domain containing 2 pseudogene 1 pseudogene pseudogene Approved 5q13.2 05q13.2 FUNDC2P FUN14 domain containing 2 pseudogene 2006-11-20 2010-03-12 2010-03-12 2016-10-05 220793 ENSG00000255883 OTTHUMG00000186591 NG_005087 HGNC:17253 +HGNC:17247 FUNDC2P2 FUN14 domain containing 2 pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2010-03-12 2014-11-19 388965 ENSG00000182814 OTTHUMG00000152875 NR_003663 PGOHUM00000240702 HGNC:17247 +HGNC:37970 FUNDC2P3 FUN14 domain containing 2 pseudogene 3 pseudogene pseudogene Approved 6q24.3 06q24.3 2010-03-16 2020-04-20 644625 ENSG00000187103 OTTHUMG00000015751 NG_022375 PGOHUM00000243808 HGNC:37970 +HGNC:37971 FUNDC2P4 FUN14 domain containing 2 pseudogene 4 pseudogene pseudogene Approved 22q13.1 22q13.1 2010-03-16 2014-11-19 100127979 ENSG00000227009 OTTHUMG00000151185 NG_051974 PGOHUM00000246588 HGNC:37971 +HGNC:24733 FUOM fucose mutarotase protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "FLJ26016|FucU|FucM" C10orf125 chromosome 10 open reading frame 125 2004-05-27 2012-07-10 2012-07-10 2017-12-15 282969 ENSG00000148803 OTTHUMG00000019315 uc001lmt.3 AK129527 NM_198472 "CCDS7680|CCDS76364|CCDS44499" A2VDF0 17602138 MGI:1916314 RGD:1311186 617725 5.1.3.29 HGNC:24733 "ENST00000278025.9|NM_001098483.3" +HGNC:8568 FURIN furin, paired basic amino acid cleaving enzyme protein-coding gene gene with protein product Approved 15q26.1 15q26.1 SPC1 "proprotein convertase subtilisin/kexin 3|subtilisin-like proprotein convertase 1" "PCSK3|FUR|PACE" "paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)|furin (paired basic amino acid cleaving enzyme)" Proprotein convertase subtilisin/kexin family 973 1991-08-08 2002-12-06 2016-02-22 2021-05-26 5045 ENSG00000140564 OTTHUMG00000149831 uc002bpu.2 X17094 NM_002569 CCDS10364 P09958 "2251280|1741956" MGI:97513 RGD:3274 136950 S08.071 objectId:2366 HGNC:8568 "ENST00000268171.8|NM_002569.4" +HGNC:4010 FUS FUS RNA binding protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "TLS|FUS1|hnRNP-P2|HNRNPP2" "heterogeneous nuclear ribonucleoprotein P2|translocated in liposarcoma" ALS6 "fusion, derived from t(12;16) malignant liposarcoma|amyotrophic lateral sclerosis 6|fusion (involved in t(12;16) in malignant liposarcoma)|fused in sarcoma" "Zinc fingers RANBP2-type |RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "89|725|1950" 1992-11-26 2014-05-09 2021-04-13 2521 ENSG00000089280 OTTHUMG00000132395 uc002ebf.3 AF071213 NM_004960 "CCDS58454|CCDS10707" P35637 "2372777|7503811|19251628|19251627" MGI:1353633 RGD:1308864 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_655|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_655.xml" FUS 137070 159615 HGNC:4010 "ENST00000254108.12|NM_004960.4" HGNC:4010 +HGNC:4012 FUT1 fucosyltransferase 1 (H blood group) protein-coding gene gene with protein product Approved 19q13.33 19q13.33 galactoside 2-alpha-L-fucosyltransferase "H|HSC" "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)|fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)" "Fucosyltransferases|Blood group antigens" "434|454" 1989-06-06 2015-11-23 2021-05-26 2523 ENSG00000174951 OTTHUMG00000183325 uc002pkk.3 NM_000148 CCDS12733 P19526 MGI:109375 RGD:2638 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_810|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_810.xml" 211100 2.4.1.69 HGNC:4012 "ENST00000645652.2|NM_001384359.1" +HGNC:4013 FUT2 fucosyltransferase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "sej|Se2|SEC2" "alpha (1,2) fucosyltransferase|galactoside 2-alpha-L-fucosyltransferase 2|GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2|alpha(1,2)FT2|secretor factor|secretor blood group alpha-2-fucosyltransferase" SE fucosyltransferase 2 (secretor status included) Fucosyltransferases 434 1989-06-06 2015-11-23 2021-05-26 2524 ENSG00000176920 OTTHUMG00000164427 uc010emc.4 NM_000511 CCDS33069 Q10981 1763885 MGI:109374 RGD:2639 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_811|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_811.xml" 182100 470356 HGNC:4013 "ENST00000425340.3|NM_000511.6" +HGNC:4014 FUT3 fucosyltransferase 3 (Lewis blood group) protein-coding gene gene with protein product Approved 19p13.3 19p13.3 CD174 galactoside 3(4)-L-fucosyltransferase LE fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included) "Fucosyltransferases|Blood group antigens|CD molecules" "434|454|471" 1993-04-08 2015-11-23 2021-05-26 2525 ENSG00000171124 OTTHUMG00000180614 uc002mdm.3 NM_000149 CCDS12153 P21217 "1977660|1740457" "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_800|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_800.xml" 111100 CD174 2.4.1.65 HGNC:4014 +HGNC:4015 FUT4 fucosyltransferase 4 protein-coding gene gene with protein product Approved 11q21 11q21 FUC-TIV "galactoside 3-L-fucosyltransferase|alpha (1,3) fucosyltransferase, myeloid-specific" "CD15|FCT3A|ELFT" ELAM ligand fucosyltransferase "Fucosyltransferases|CD molecules" "434|471" 1992-04-06 2015-11-23 2015-11-23 2526 ENSG00000196371 OTTHUMG00000167795 uc001pez.4 NM_002033 CCDS8301 P22083 1702034 MGI:95594 RGD:619954 104230 CD15 HGNC:4015 "ENST00000358752.4|NM_002033.4" +HGNC:4016 FUT5 fucosyltransferase 5 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FUC-TV alpha (1,3) fucosyltransferase Fucosyltransferases 434 1992-09-17 2015-11-23 2015-11-23 2527 ENSG00000130383 OTTHUMG00000180616 uc002mdo.5 NM_002034 CCDS12154 Q11128 1740457 136835 2.4.1.65 HGNC:4016 "ENST00000588525.1|NM_002034.2" +HGNC:4017 FUT6 fucosyltransferase 6 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FT1A|FCT3A|FucT-VI|FLJ40754" "alpha-(1,3)-fucosyltransferase|galactoside 3-L-fucosyltransferase" Fucosyltransferases 434 1993-04-15 2015-11-23 2015-11-23 2528 ENSG00000156413 OTTHUMG00000167335 uc002mdg.1 NM_000150 CCDS12152 P51993 "1520296|7782074" RGD:1588473 Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 136836 2.4.1.65 HGNC:4017 "ENST00000318336.10|NM_000150.4" HGNC:4017 +HGNC:4018 FUT7 fucosyltransferase 7 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 alpha (1,3) fucosyltransferase fucosyltransferase 7 (alpha (1,3) fucosyltransferase) Fucosyltransferases 434 1994-12-14 2016-04-05 2016-04-05 2529 ENSG00000180549 OTTHUMG00000020964 uc004ckq.3 "X78031|AB012668" NM_004479 CCDS7022 Q11130 "8207002|8182079" MGI:107692 RGD:735019 Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home 602030 HGNC:4018 "ENST00000314412.7|NM_004479.4" +HGNC:4019 FUT8 fucosyltransferase 8 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 alpha (1,6) fucosyltransferase fucosyltransferase 8 (alpha (1,6) fucosyltransferase) "Fucosyltransferases|MicroRNA protein coding host genes" "434|1691" 1997-12-23 2016-04-05 2021-05-26 2530 ENSG00000033170 OTTHUMG00000142818 uc001xin.3 AB049740 NM_004480 "CCDS9775|CCDS9776" Q9BYC5 9368041 MGI:1858901 RGD:1303096 602589 HGNC:4019 "ENST00000673929.1|NM_001371533.1" HGNC:4019 +HGNC:44294 FUT8-AS1 FUT8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.3 14q23.3 FUT8 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-08 2012-08-15 2012-10-12 645431 ENSG00000276116 OTTHUMG00000186893 uc059cmm.1 "AK094893|BX098734|BX161387" NR_024334 FUT8-AS1 HGNC:44294 +HGNC:4020 FUT9 fucosyltransferase 9 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 Fuc-TIX alpha (1,3) fucosyltransferase fucosyltransferase 9 (alpha (1,3) fucosyltransferase) Fucosyltransferases 434 1999-07-07 2016-04-05 2016-10-05 10690 ENSG00000172461 OTTHUMG00000015236 uc003pop.5 AB023021 NM_006581 CCDS5033 Q9Y231 "10386598|10575236" MGI:1330859 RGD:619955 606865 HGNC:4020 "ENST00000302103.6|NM_006581.4" +HGNC:19234 FUT10 fucosyltransferase 10 protein-coding gene gene with protein product Approved 8p12 08p12 alpha (1,3) fucosyltransferase fucosyltransferase 10 (alpha (1,3) fucosyltransferase) Fucosyltransferases 434 2003-10-15 2016-04-05 2016-04-05 84750 ENSG00000172728 OTTHUMG00000163954 uc003xje.4 AJ512465 NM_032664 CCDS6088 Q6P4F1 MGI:2384748 RGD:1359164 616931 HGNC:19234 "ENST00000327671.10|NM_032664.3" +HGNC:19233 FUT11 fucosyltransferase 11 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 MGC33202 alpha (1,3) fucosyltransferase fucosyltransferase 11 (alpha (1,3) fucosyltransferase) Fucosyltransferases 434 2003-10-15 2016-04-05 2016-10-05 170384 ENSG00000196968 OTTHUMG00000018483 uc001jva.4 BC036037 NM_173540 "CCDS60558|CCDS7333" Q495W5 "11698403|24318988" MGI:1920318 RGD:628731 616932 HGNC:19233 "ENST00000372841.8|NM_173540.3" +HGNC:26219 FUZ fuzzy planar cell polarity protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ22688|Fy|CPLANE3" ciliogenesis and planar polarity effector complex subunit 3 fuzzy homolog (Drosophila) Ciliogenesis and planar polarity effector complex subunits 1610 2006-06-21 2013-03-05 2021-12-03 80199 ENSG00000010361 OTTHUMG00000167281 uc002ppq.4 BC016793 NM_025129 "CCDS86790|CCDS54293|CCDS12781" Q9BT04 21761479 MGI:1917550 RGD:1310608 610622 285396 HGNC:26219 "ENST00000313777.9|NM_025129.5" +HGNC:3951 FXN frataxin protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "FA|FARR|X25|CyaY" FRDA Friedreich ataxia Mitochondrial iron-sulfur assembly components 1853 2001-06-22 2004-08-19 2004-08-16 2021-05-26 2395 ENSG00000165060 OTTHUMG00000019977 uc004aha.3 U43752 NM_000144 "CCDS6626|CCDS43834" Q16595 "8596916|8841185" MGI:1096879 RGD:1565754 LRG_339|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_339.xml 606829 121965 HGNC:3951 "ENST00000484259.3|NM_000144.5" HGNC:3951 +HGNC:20012 FXNP1 frataxin pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 FRDAP Friedreich ataxia pseudogene 2003-01-13 2015-03-19 2015-03-19 2015-03-19 122942 ENSG00000258421 OTTHUMG00000171521 NG_002485 PGOHUM00000292419 HGNC:20012 +HGNC:51607 FXNP2 frataxin pseudogene 2 pseudogene pseudogene Approved 9q33.3 09q33.3 2015-03-19 2020-02-11 2020-02-11 100418706 ENSG00000177736 OTTHUMG00000020666 NG_016620 PGOHUM00000304052 HGNC:51607 +HGNC:4023 FXR1 FMR1 autosomal homolog 1 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 fragile X mental retardation, autosomal homolog 1 1999-04-16 2016-02-17 2016-10-05 8087 ENSG00000114416 OTTHUMG00000158138 uc003fkq.4 M67468 NM_001013438 "CCDS3238|CCDS33894|CCDS87169|CCDS46965" P51114 "7781595|9642279" MGI:104860 RGD:1311733 600819 HGNC:4023 "ENST00000357559.9|NM_005087.4" HGNC:4023 +HGNC:4024 FXR2 FMR1 autosomal homolog 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FMR1L2 fragile X mental retardation, autosomal homolog 2 1999-05-17 2016-02-17 2021-04-13 9513 ENSG00000129245 OTTHUMG00000178237 uc002gia.3 U31501 NM_004860 CCDS45604 P51116 "7489725|9259278" MGI:1346074 RGD:1307011 LRG_285|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_285.xml 605339 HGNC:4024 "ENST00000250113.12|NM_004860.4" +HGNC:4025 FXYD1 FXYD domain containing ion transport regulator 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 PLM phospholemman 1996-12-30 2008-08-01 2016-10-05 5348 ENSG00000266964 OTTHUMG00000182359 uc002nyc.5 NM_021902 CCDS12445 O00168 9169143 MGI:1889273 RGD:69306 602359 objectId:3152 HGNC:4025 "ENST00000351325.9|NM_021902.4" +HGNC:4026 FXYD2 FXYD domain containing ion transport regulator 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC12372 "ATP1G1|HOMG2" hypomagnesemia 2, renal 1997-06-12 2003-02-28 2021-05-26 486 ENSG00000137731 OTTHUMG00000166990 uc001prj.2 AF241236 NM_021603 "CCDS8385|CCDS8386" P54710 "9048881|9915957" MGI:1195260 RGD:2173 601814 121972 objectId:2610 HGNC:4026 "ENST00000292079.7|NM_001680.5" HGNC:4026 +HGNC:4027 FXYD3 FXYD domain containing ion transport regulator 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 MAT-8 PLML FXYD domain-containing ion transport regulator 3 MicroRNA protein coding host genes 1691 1997-01-16 2002-01-14 2015-07-22 5349 ENSG00000089356 OTTHUMG00000184625 uc002nxv.4 X93036 NM_021910 "CCDS46049|CCDS12443|CCDS12442|CCDS46050|CCDS46048" Q14802 "7836447|10950925" MGI:107497 RGD:620825 604996 objectId:3153 HGNC:4027 "ENST00000604404.6|NM_005971.4" +HGNC:4028 FXYD4 FXYD domain containing ion transport regulator 4 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 CHIF FXYD domain-containing ion transport regulator 4 2000-05-23 2002-01-14 2015-09-11 53828 ENSG00000150201 OTTHUMG00000018027 uc057swf.1 NM_173160 CCDS7203 P59646 "10950925|12763854" MGI:1889005 RGD:70998 616926 HGNC:4028 "ENST00000476166.6|NM_173160.3" +HGNC:4029 FXYD5 FXYD domain containing ion transport regulator 5 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 OIT2 dysadherin FXYD domain-containing ion transport regulator 5 2000-05-23 2002-01-14 2014-11-19 53827 ENSG00000089327 OTTHUMG00000048092 uc002nyg.3 AF161462 NM_014164 "CCDS12447|CCDS82328" Q96DB9 MGI:1201785 RGD:620827 606669 HGNC:4029 "ENST00000392219.7|NM_014164.6" +HGNC:4030 FXYD6 FXYD domain containing ion transport regulator 6 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 phosphohippolin FXYD domain-containing ion transport regulator 6 2000-05-23 2002-01-14 2014-11-19 53826 ENSG00000137726 OTTHUMG00000166991 uc021qra.2 BC093040 NM_022003 CCDS8387 Q9H0Q3 10950925 MGI:1890226 RGD:69315 606683 HGNC:4030 "ENST00000526014.6|NM_022003.4" +HGNC:56067 FXYD6-AS1 FXYD6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Antisense RNAs 1987 2021-12-13 2021-12-13 123706543 ENSG00000254528 XR_007062900 +HGNC:39978 FXYD6-FXYD2 FXYD6-FXYD2 readthrough other readthrough Approved 11q23.3 11q23.3 2012-06-27 2014-11-19 100533181 ENSG00000255245 OTTHUMG00000166496 uc021qqy.2 NM_001204268 MGI:1890226 HGNC:39978 +HGNC:4031 FXYD6P1 FXYD domain containing ion transport regulator 6 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 2000-05-23 2011-09-02 2015-07-22 100128934 ENSG00000270762 OTTHUMG00000184665 NG_017128 PGOHUM00000290124 HGNC:4031 +HGNC:4032 FXYD6P2 FXYD domain containing ion transport regulator 6 pseudogene 2 pseudogene pseudogene Approved 10p11.1 10p11.1 2000-05-23 2011-09-02 2016-10-05 100128512 ENSG00000235964 OTTHUMG00000017988 NG_017125 PGOHUM00000238415 HGNC:4032 +HGNC:31124 FXYD6P3 FXYD domain containing ion transport regulator 6 pseudogene 3 pseudogene pseudogene Approved Xq13.2 Xq13.2 FXYD8 FXYD domain containing ion transport regulator 8 2004-04-30 2011-09-02 2011-09-12 2021-10-07 406875 ENSG00000182707 OTTHUMG00000021837 NG_009946 P58550 MGI:1890226 PGOHUM00000258438 HGNC:31124 +HGNC:4034 FXYD7 FXYD domain containing ion transport regulator 7 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FXYD domain-containing ion transport regulator 7 2000-05-23 2002-01-14 2015-07-22 53822 ENSG00000221946 OTTHUMG00000182348 uc002nye.2 AI929519 NM_022006 CCDS12446 P58549 MGI:1889006 RGD:620830 606684 HGNC:4034 "ENST00000270310.7|NM_022006.2" +HGNC:4036 FYB1 FYN binding protein 1 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 "SLAP-130|FYB-120/130|ADAP" adhesion and degranulation promoting adaptor protein FYB "FYN-binding protein (FYB-120/130)|FYN binding protein" 1998-04-22 2017-05-25 2017-05-25 2021-04-13 2533 ENSG00000082074 OTTHUMG00000162071 uc003jlu.4 U93049 NM_001465 "CCDS54848|CCDS47200|CCDS58945" O15117 "9115214|9207119" MGI:1346327 RGD:1563421 LRG_1351|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1351.xml 602731 HGNC:4036 "ENST00000512982.4|NM_001465.6" HGNC:4036 +HGNC:27295 FYB2 FYN binding protein 2 protein-coding gene gene with protein product Approved 1p32.2 01p32.2 "RP4-758N20.2|FLJ43208|ARAP" activation-dependent, raft-recruited ADAP-like phosphoprotein C1orf168 chromosome 1 open reading frame 168 2005-07-20 2017-05-25 2017-05-25 2017-05-25 199920 ENSG00000187889 OTTHUMG00000008281 uc001cym.5 BX648439 NM_001004303 CCDS30729 Q5VWT5 27335501 MGI:2685466 RGD:1564074 618478 HGNC:27295 "ENST00000343433.7|NM_001004303.5" +HGNC:14673 FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ13335|ZFYVE7" FYVE and coiled-coil domain containing 1 "Zinc fingers FYVE-type|GOLD domain containing" "81|1062" 2001-03-06 2019-09-25 2021-05-26 79443 ENSG00000163820 OTTHUMG00000133447 uc003cpb.6 AJ292348 NM_024513 CCDS2734 Q9BQS8 11896456 MGI:107277 RGD:1309069 607182 270347 HGNC:14673 "ENST00000296137.7|NM_024513.4" HGNC:14673 +HGNC:4037 FYN FYN proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 6q21 06q21 "SYN|SLK|MGC45350" FYN oncogene related to SRC, FGR, YES "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1988-08-19 2014-06-25 2015-09-01 2534 ENSG00000010810 OTTHUMG00000016305 uc003pvk.3 AK056699 NM_001370529 "CCDS5095|CCDS5094|CCDS5096" P06241 3526330 MGI:95602 RGD:2641 137025 objectId:2026 HGNC:4037 "ENST00000354650.7|NM_002037.5" +HGNC:25407 FYTTD1 forty-two-three domain containing 1 protein-coding gene gene with protein product Approved 3q29 03q29 "DKFZp761B1514|UIF" UAP56-interacting factor Transcription and export complex 1 subunits 1348 2005-01-24 2018-08-03 84248 ENSG00000122068 OTTHUMG00000155453 uc003fyi.3 AJ344094 NM_032288 "CCDS3329|CCDS43196" Q96QD9 19836239 MGI:1917955 RGD:1306899 616933 HGNC:25407 "ENST00000241502.9|NM_032288.7" +HGNC:38035 FYTTD1P1 forty-two-three domain containing 1 pseudogene 1 pseudogene pseudogene Approved 9q31.1 09q31.1 2010-03-23 2020-04-20 100128665 ENSG00000234502 OTTHUMG00000020379 NG_012326 PGOHUM00000236288 HGNC:38035 +HGNC:4038 FZD1 frizzled class receptor 1 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 DKFZp564G072 "Wnt receptor|frizzled, Drosophila, homolog of, 1" "frizzled (Drosophila) homolog 1|frizzled homolog 1 (Drosophila)|frizzled 1, seven transmembrane spanning receptor|frizzled family receptor 1" G protein-coupled receptors, Class F frizzled 286 1998-09-17 2014-01-29 2016-10-05 8321 ENSG00000157240 OTTHUMG00000023046 uc003ula.4 AB017363 NM_003505 CCDS5620 Q9UP38 9813155 MGI:1196625 RGD:61916 603408 objectId:229 HGNC:4038 "ENST00000287934.4|NM_003505.2" +HGNC:4040 FZD2 frizzled class receptor 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "frizzled (Drosophila) homolog 2|frizzled homolog 2 (Drosophila)|frizzled 2, seven transmembrane spanning receptor|frizzled family receptor 2" G protein-coupled receptors, Class F frizzled 286 1995-07-18 2014-01-29 2021-05-26 2535 ENSG00000180340 OTTHUMG00000181819 uc002igx.3 L37882 NM_001466 CCDS11484 Q14332 "7558010|9813155" MGI:1888513 RGD:71012 600667 434424 objectId:230 HGNC:4040 "ENST00000315323.5|NM_001466.4" HGNC:4040 +HGNC:4041 FZD3 frizzled class receptor 3 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "frizzled (Drosophila) homolog 3|frizzled homolog 3 (Drosophila)|frizzled 3, seven transmembrane spanning receptor|frizzled family receptor 3" G protein-coupled receptors, Class F frizzled 286 1998-09-17 2014-01-29 2021-04-13 7976 ENSG00000104290 OTTHUMG00000102145 uc010lvb.4 AJ272427 NM_145866 CCDS6069 Q9NPG1 "10777673|10873558" MGI:108476 RGD:628814 LRG_859|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_859.xml 606143 470358 objectId:231 HGNC:4041 "ENST00000240093.8|NM_017412.4" +HGNC:4042 FZD4 frizzled class receptor 4 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 CD344 EVR1 "frizzled (Drosophila) homolog 4|exudative vitreoretinopathy 1|frizzled homolog 4 (Drosophila)|frizzled 4, seven transmembrane spanning receptor|frizzled family receptor 4" "G protein-coupled receptors, Class F frizzled|CD molecules" "286|471" 1998-09-17 2014-01-29 2021-05-26 8322 ENSG00000174804 OTTHUMG00000167231 uc001pce.4 AB032417 NM_012193 CCDS8279 Q9ULV1 "10544037|15024691" MGI:108520 RGD:71017 604579 121977 objectId:232 CD344 HGNC:4042 "ENST00000531380.2|NM_012193.4" HGNC:4042 +HGNC:54219 FZD4-DT FZD4 divergent transcript non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 Divergent transcripts 1990 2019-04-09 2019-04-09 100506368 ENSG00000246523 NR_038905 HGNC:54219 +HGNC:4043 FZD5 frizzled class receptor 5 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "HFZ5|DKFZP434E2135" C2orf31 "frizzled (Drosophila) homolog 5|chromosome 2 open reading frame 31|frizzled homolog 5 (Drosophila)|frizzled 5, seven transmembrane spanning receptor|frizzled family receptor 5" G protein-coupled receptors, Class F frizzled 286 1998-09-17 2014-01-29 2021-05-26 7855 ENSG00000163251 OTTHUMG00000154790 uc002vcj.4 U43318 NM_003468 CCDS33366 Q13467 "8626800|11408929" MGI:108571 RGD:631406 601723 464482 objectId:233 HGNC:4043 "ENST00000295417.4|NM_003468.4" +HGNC:4044 FZD6 frizzled class receptor 6 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 Hfz6 "frizzled (Drosophila) homolog 6|frizzled homolog 6 (Drosophila)|frizzled 6, seven transmembrane spanning receptor|frizzled family receptor 6" G protein-coupled receptors, Class F frizzled 286 1998-09-17 2014-01-29 2021-05-26 8323 ENSG00000164930 OTTHUMG00000164840 uc003ylh.4 AB012911 NM_003506 "CCDS55268|CCDS6298" O60353 "9480858|14747478" MGI:108474 RGD:628816 603409 280659 objectId:234 HGNC:4044 "ENST00000358755.5|NM_003506.4" +HGNC:4045 FZD7 frizzled class receptor 7 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FzE3 "frizzled (Drosophila) homolog 7|frizzled homolog 7 (Drosophila)|frizzled 7, seven transmembrane spanning receptor|frizzled family receptor 7" G protein-coupled receptors, Class F frizzled 286 1998-09-17 2014-01-29 2016-10-05 8324 ENSG00000155760 OTTHUMG00000132841 uc002uyw.2 AB010881 NM_003507 CCDS2351 O75084 "9707618|9813155" MGI:108570 RGD:2321905 603410 objectId:235 HGNC:4045 "ENST00000286201.3|NM_003507.2" +HGNC:4046 FZD8 frizzled class receptor 8 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "frizzled (Drosophila) homolog 8|frizzled homolog 8 (Drosophila)|frizzled 8, seven transmembrane spanning receptor|frizzled family receptor 8" "G protein-coupled receptors, Class F frizzled|MicroRNA protein coding host genes" "286|1691" 1998-09-17 2014-01-29 2016-10-05 8325 ENSG00000177283 OTTHUMG00000017956 uc001iyz.2 AB043703 NM_031866 CCDS7192 Q9H461 11295046 MGI:108460 RGD:1560525 606146 objectId:236 HGNC:4046 "ENST00000374694.3|NM_031866.3" +HGNC:4047 FZD9 frizzled class receptor 9 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "FZD3|CD349" "frizzled (Drosophila) homolog 9|frizzled homolog 9 (Drosophila)|frizzled 9, seven transmembrane spanning receptor|frizzled family receptor 9" "G protein-coupled receptors, Class F frizzled|CD molecules" "286|471" 1998-09-17 2014-01-29 2015-09-11 8326 ENSG00000188763 OTTHUMG00000023051 uc003tyb.4 U82169 NM_003508 CCDS5548 O00144 "9147651|10198163" MGI:1313278 RGD:628817 601766 470360 objectId:237 CD349 HGNC:4047 "ENST00000344575.5|NM_003508.3" +HGNC:4039 FZD10 frizzled class receptor 10 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 CD350 "frizzled (Drosophila) homolog 10|frizzled homolog 10 (Drosophila)|frizzled 10, seven transmembrane spanning receptor|frizzled family receptor 10" "G protein-coupled receptors, Class F frizzled|CD molecules" "286|471" 1999-09-09 2014-01-29 2015-09-01 11211 ENSG00000111432 OTTHUMG00000168380 uc001uii.4 AB027464 NM_007197 CCDS9267 Q9ULW2 10448064 MGI:2136761 RGD:1583825 606147 objectId:238 CD350 HGNC:4039 "ENST00000229030.5|NM_007197.4" +HGNC:48632 FZD10-AS1 FZD10 antisense divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 FLJ31485 FZD10-DT "FZD10 antisense RNA 1 (head to head)|FZD10 divergent transcript" 2013-05-30 2018-11-14 2018-11-14 2018-11-14 440119 ENSG00000250208 OTTHUMG00000168379 AK123838 NR_033834 30401432 MGI:2442398 FZD10-AS1 HGNC:48632 +HGNC:24824 FZR1 fizzy and cell division cycle 20 related 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HCDH1|CDH1|HCDH|FZR|FZR2|KIAA1242|CDC20C" CDC20 homolog 1 "fizzy/cell division cycle 20 related 1 (Drosophila)|fizzy/cell division cycle 20 related 1" WD repeat domain containing 362 2004-03-31 2017-01-20 2019-06-13 51343 ENSG00000105325 OTTHUMG00000180747 uc002lxt.3 AF083810 NM_016263 "CCDS45917|CCDS12109|CCDS45916" Q9UM11 "9734353|11003657" MGI:1926790 RGD:1308713 603619 HGNC:24824 "ENST00000441788.7|NM_016263.4" +HGNC:20338 G2E3 G2/M-phase specific E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 14q12 14q12 "FLJ20333|PHF7B" PHD finger protein 7B KIAA1333 KIAA1333 "PHD finger proteins|HECT domain containing" "88|1959" 2003-11-21 2009-02-03 2010-09-17 2014-11-19 55632 ENSG00000092140 OTTHUMG00000140204 uc001wqk.3 AK000340 NM_017769 "CCDS76669|CCDS9638" Q7L622 "18511420|17239372" MGI:2444298 RGD:1310263 611299 HGNC:20338 "ENST00000206595.11|NM_017769.5" +HGNC:53463 G2E3-AS1 G2E3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q12 14q12 CAT1647 Antisense RNAs 1987 2017-04-27 2017-04-27 105370431 ENSG00000257636 OTTHUMG00000170510 NR_151720 28415801 HGNC:53463 +HGNC:30292 G3BP1 G3BP stress granule assembly factor 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "HDH-VIII|G3BP" "Ras-GTPase-activating protein SH3-domain-binding protein|DNA helicase VIII" GTPase activating protein (SH3 domain) binding protein 1 "RNA binding motif containing|Endoribonucleases" "725|1687" 2006-10-25 2016-02-29 2016-02-29 10146 ENSG00000145907 OTTHUMG00000130123 uc003lum.4 BC006997 NM_005754 CCDS4319 Q13283 "8649363|9889278|25229650" MGI:1351465 RGD:621140 608431 HGNC:30292 "ENST00000356245.8|NM_005754.3" +HGNC:54590 G3BP1P1 G3BP1 pseudogene 1 pseudogene pseudogene Approved 2q21.3 02q21.3 2019-10-16 2019-10-16 100422338 ENSG00000235651 NG_023611 +HGNC:30291 G3BP2 G3BP stress granule assembly factor 2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 KIAA0660 Ras-GTPase activating protein SH3 domain-binding protein 2 GTPase activating protein (SH3 domain) binding protein 2 RNA binding motif containing 725 2006-10-25 2016-02-29 2016-02-29 9908 ENSG00000138757 OTTHUMG00000130097 uc003his.4 AB014560 NM_012297 "CCDS3572|CCDS3571" Q9UN86 "9734811|9575347|22536444" MGI:2442040 RGD:1309571 HGNC:30291 "ENST00000359707.9|NM_203505.3" +HGNC:4056 G6PC1 glucose-6-phosphatase catalytic subunit 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 GSD1a glycogen storage disease type I, von Gierke disease "G6PT|G6PC" "glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)|glucose-6-phosphatase catalytic subunit" Glucose 6-phosphatases, catalytic 1074 1993-11-05 2020-11-05 2020-11-05 2021-05-26 2538 ENSG00000131482 OTTHUMG00000180657 uc002icb.3 U01120 NM_000151 "CCDS11446|CCDS59291" P35575 7774924 MGI:95607 RGD:2644 LRG_147|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_147.xml 613742 121980 3.1.3.9 HGNC:4056 "ENST00000253801.7|NM_000151.4" HGNC:4056 +HGNC:28906 G6PC2 glucose-6-phosphatase catalytic subunit 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 IGRP islet specific glucose 6 phosphatase catalytic subunit related protein glucose-6-phosphatase, catalytic, 2 Glucose 6-phosphatases, catalytic 1074 2004-03-29 2016-03-14 2016-03-14 57818 ENSG00000152254 OTTHUMG00000132182 uc002uem.4 AF283575 NM_021176 "CCDS46443|CCDS2230" Q9NQR9 "10078553|10078554" MGI:1277193 RGD:69398 608058 HGNC:28906 "ENST00000375363.8|NM_021176.3" +HGNC:24861 G6PC3 glucose-6-phosphatase catalytic subunit 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 UGRP glucose 6 phosphatase, catalytic, 3 Glucose 6-phosphatases, catalytic 1074 2004-03-29 2016-05-27 2021-05-26 92579 ENSG00000141349 OTTHUMG00000181805 uc002iex.4 BC021574 NM_138387 CCDS11476 Q9BUM1 "12370122|12965222" MGI:1915651 RGD:727875 LRG_182|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_182.xml 611045 171034 3.1.3.9 HGNC:24861 "ENST00000269097.9|NM_138387.4" HGNC:24861 +HGNC:4057 G6PD glucose-6-phosphate dehydrogenase protein-coding gene gene with protein product Approved Xq28 Xq28 G6PD1 2001-06-22 2021-05-26 2539 ENSG00000160211 OTTHUMG00000024237 uc004flx.3 X03674 NM_000402 CCDS44023 P11413 "3012556|2428611" MGI:105979 RGD:2645 "G6PD Mutations|http://www.bioinf.org.uk/g6pd/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/G6PD|LRG_148|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_148.xml" 305900 121984 1.1.1.49 HGNC:4057 "ENST00000393562.10|NM_001360016.2" HGNC:4057 +HGNC:4059 G6PR glucose-6-phosphatase regulator other unknown Approved reserved reserved GSD1aSP glucose-6-phosphatase, regulatory 1998-07-15 2004-05-20 2016-04-20 2541 "2172641|7814621|2996501" +HGNC:4065 GAA alpha glucosidase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "Pompe disease|glycogen storage disease type II" "glucosidase, alpha; acid|glucosidase alpha, acid" Glycoside hydrolase family 31 1413 1986-01-01 2020-11-10 2021-04-13 2548 ENSG00000171298 OTTHUMG00000177537 uc002jxo.4 NM_000152 CCDS32760 P10253 MGI:95609 RGD:735227 "GAA - Pompe disease (glycogen storage disease type II)|http://www.LOVD.nl/GAA|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GAA|LRG_673|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_673.xml" 606800 121987 objectId:2611 3.2.1.20 HGNC:4065 "ENST00000302262.8|NM_000152.5" HGNC:4065 +HGNC:4066 GAB1 GRB2 associated binding protein 1 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 DFNB26 deafness, autosomal recessive 26 "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 1996-12-18 2015-11-18 2019-07-12 2549 ENSG00000109458 OTTHUMG00000161432 uc003ijd.4 U43885 NM_002039 "CCDS3760|CCDS3759" Q13480 "8596638|29408807" MGI:108088 RGD:1311085 604439 HGNC:4066 "ENST00000262994.9|NM_002039.4" +HGNC:14458 GAB2 GRB2 associated binding protein 2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 KIAA0571 Grb2-associated binder 2 Pleckstrin homology domain containing 682 2001-01-24 2015-11-18 2015-11-18 9846 ENSG00000033327 OTTHUMG00000166673 uc001ozh.4 AB011143 NM_080491 "CCDS8260|CCDS8259" Q9UQC2 "10391903|10068651" MGI:1333854 RGD:621367 606203 HGNC:14458 "ENST00000361507.5|NM_080491.3" +HGNC:17515 GAB3 GRB2 associated binding protein 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "DOS/Gab family member 3|Gab3 scaffolding protein" Pleckstrin homology domain containing 682 2002-03-05 2015-11-18 2020-04-02 139716 ENSG00000160219 OTTHUMG00000024245 uc004fmj.3 AY057989 NM_001081573 "CCDS65357|CCDS48198|CCDS14760" Q8WWW8 11739737 MGI:2387324 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GAB3 300482 HGNC:17515 "ENST00000424127.3|NM_001081573.3" +HGNC:18325 GAB4 GRB2 associated binding protein family member 4 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 GRB2-associated binding protein family, member 4 Pleckstrin homology domain containing 682 2004-07-22 2015-11-17 2018-11-15 128954 ENSG00000215568 OTTHUMG00000149992 uc002zlw.4 AK057252 NM_001037814 CCDS42976 Q2WGN9 MGI:1333854 HGNC:18325 "ENST00000400588.5|NM_001037814.1" +HGNC:4067 GABARAP GABA type A receptor-associated protein protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MM46|ATG8A" GABA(A) receptor-associated protein Autophagy related 1022 1999-09-29 2016-03-17 2016-03-17 11337 ENSG00000170296 OTTHUMG00000102156 uc002gfb.4 AF161586 NM_007278 CCDS11092 O95166 9892355 MGI:1861742 RGD:61911 605125 HGNC:4067 "ENST00000302386.10|NM_007278.2" +HGNC:4068 GABARAPL1 GABA type A receptor associated protein like 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "gec1|APG8L|ATG8L|ATG8B" GABA(A) receptor-associated protein like 1 Autophagy related 1022 1999-09-29 2016-03-17 2016-10-05 23710 ENSG00000139112 OTTHUMG00000168411 uc001qxs.4 AF087847 NM_001363598 "CCDS8620|CCDS86280" Q9H0R8 "11414770|11374880" MGI:1914980 RGD:1596143 607420 HGNC:4068 "ENST00000266458.10|NM_031412.4" +HGNC:54822 GABARAPL1-AS1 GABARAPL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 Antisense RNAs 1987 2020-01-17 2020-07-16 116435304 ENSG00000255958 NR_170310 32079618 +HGNC:13291 GABARAPL2 GABA type A receptor associated protein like 2 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "GEF2|ATG8|GATE16|GATE-16|ATG8C" GABA(A) receptor-associated protein like 2 Autophagy related 1022 2001-07-09 2016-03-17 2016-10-05 11345 ENSG00000034713 OTTHUMG00000137613 uc002fen.3 AF087848 NM_007285 CCDS10921 P60520 11414770 MGI:1890602 RGD:620510 607452 HGNC:13291 "ENST00000037243.7|NM_007285.7" +HGNC:4069 GABARAPL3 GABA type A receptor associated protein like 3 pseudogene pseudogene pseudogene Approved 15q26.1 15q26.1 ATG8D "GABA(A) receptors associated protein like 3|GABA(A) receptors associated protein like 3 (pseudogene)|GABA(A) receptors associated protein like 3, pseudogene" 1999-10-29 2016-03-17 2016-03-17 23766 ENSG00000238244 OTTHUMG00000189344 uc059nep.1 AF180519 NR_028287 Q9BY60 11414770 HGNC:4069 +HGNC:4070 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "hGB1a|GPRC3A" GABA-B receptor gamma-aminobutyric acid (GABA) B receptor, 1 "Gamma-aminobutyric acid type B receptor subunits|Sushi domain containing" "280|1179" 1998-04-21 2016-02-04 2016-10-05 2550 ENSG00000204681 OTTHUMG00000031095 uc003nmt.5 Y11044 NM_001319053 "CCDS4664|CCDS4663|CCDS4665" Q9UBS5 "9753614|9798068" MGI:1860139 RGD:621537 603540 objectId:240 HGNC:4070 "ENST00000377034.9|NM_001470.4" +HGNC:4507 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "HG20|GABABR2|GPRC3B" GPR51 "G protein-coupled receptor 51|gamma-aminobutyric acid (GABA) B receptor, 2" Gamma-aminobutyric acid type B receptor subunits 280 1999-04-23 2006-02-16 2016-02-04 2021-05-26 9568 ENSG00000136928 OTTHUMG00000020345 uc004ays.5 AF069755 NM_005458 CCDS6736 O75899 10087195 MGI:2386030 RGD:619864 607340 470362 objectId:241 HGNC:4507 "ENST00000259455.4|NM_005458.8" HGNC:4507 +HGNC:4071 GABPA GA binding protein transcription factor subunit alpha protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "E4TF1A|NFT2|NRF2|E4TF1-60|NRF2A" "human nuclear respiratory factor-2 subunit alpha|nuclear respiratory factor 2 alpha subunit" "GA-binding protein transcription factor, alpha subunit (60kD)|GA binding protein transcription factor, alpha subunit 60kDa|GA binding protein transcription factor alpha subunit" ETS transcription factor family 534 1994-01-18 2018-04-23 2018-04-23 2551 ENSG00000154727 OTTHUMG00000078443 uc002ylx.5 NM_002040 CCDS13575 Q06546 8441384 MGI:95610 RGD:1310802 600609 HGNC:4071 "ENST00000400075.4|NM_002040.4" +HGNC:4072 GABPAP GABPA pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 "E4TF1|E4TF1B" GABPB1 "GA binding protein transcription factor, beta subunit 1, 53kDa|GA binding protein transcription factor, alpha subunit pseudogene|GA binding protein transcription factor alpha subunit pseudogene" 1998-09-18 2018-04-23 2018-04-23 8327 ENSG00000235720 OTTHUMG00000156550 NG_007342 "8441384|10393246" PGOHUM00000302722 HGNC:4072 +HGNC:4074 GABPB1 GA binding protein transcription factor subunit beta 1 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "E4TF1-47|GABPB" GABPB2 "GA binding protein transcription factor, beta subunit 2|GA binding protein transcription factor beta subunit 1" Ankyrin repeat domain containing 403 1994-01-18 2008-02-25 2018-04-23 2018-04-23 2553 ENSG00000104064 OTTHUMG00000131642 uc001zya.4 D13316 NM_001320910 "CCDS10136|CCDS45258|CCDS10135|CCDS32239" Q06547 7958862 MGI:95611 RGD:1560391 600610 HGNC:4074 "ENST00000380877.8|NM_016654.5" +HGNC:44157 GABPB1-AS1 GABPB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.2 15q21.2 GABPB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-01-15 100129387 ENSG00000244879 OTTHUMG00000172396 uc001zyi.4 NR_024490 24036268 GABPB1-AS1 HGNC:44157 +HGNC:25469 GABPB1-IT1 GABPB1 intronic transcript non-coding RNA RNA, long non-coding Approved 15q21.2 15q21.2 FLJ10038 Intronic transcripts 1989 2017-04-19 2019-07-12 55056 ENSG00000285410 NR_026891 31289561 HGNC:25469 +HGNC:28441 GABPB2 GA binding protein transcription factor subunit beta 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MGC29891 GA binding protein transcription factor beta subunit 2 Ankyrin repeat domain containing 403 2008-02-25 2018-04-23 2018-04-23 126626 ENSG00000143458 OTTHUMG00000012193 uc001ewr.3 NM_144618 "CCDS983|CCDS81373" Q8TAK5 7958862 MGI:95612 RGD:1565234 HGNC:28441 "ENST00000368918.8|NM_144618.3" +HGNC:4075 GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 protein-coding gene gene with protein product Approved 5q34 05q34 EJM5 GABA(A) receptor, alpha 1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 Gamma-aminobutyric acid type A receptor subunits 563 1989-06-02 2019-11-26 2021-05-26 2554 ENSG00000022355 OTTHUMG00000163586 uc010jix.5 NM_000806.5 CCDS4357 P14867 1330891 MGI:95613 RGD:61855 137160 121989 objectId:404 HGNC:4075 "ENST00000393943.10|NM_001127644.2" HGNC:4075 +HGNC:4076 GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 protein-coding gene gene with protein product Approved 4p12 04p12 GABA(A) receptor, alpha 2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 Gamma-aminobutyric acid type A receptor subunits 563 1989-06-02 2019-11-26 2021-05-26 2555 ENSG00000151834 OTTHUMG00000044266 uc062wij.1 NM_000807 "CCDS82921|CCDS3471" P47869 MGI:95614 RGD:61856 137140 objectId:405 HGNC:4076 "ENST00000381620.9|NM_000807.4" HGNC:4076 +HGNC:4077 GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 protein-coding gene gene with protein product Approved Xq28 Xq28 GABA(A) receptor, alpha 3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 "Gamma-aminobutyric acid type A receptor subunits|MicroRNA protein coding host genes" "563|1691" 1989-06-06 2019-11-26 2019-11-26 2556 ENSG00000011677 OTTHUMG00000024183 uc010ntk.2 NM_000808 CCDS14706 P34903 MGI:95615 RGD:2648 305660 199890 objectId:406 HGNC:4077 "ENST00000370314.9|NM_000808.4" +HGNC:4078 GABRA4 gamma-aminobutyric acid type A receptor subunit alpha4 protein-coding gene gene with protein product Approved 4p12 04p12 GABA(A) receptor, alpha 4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 Gamma-aminobutyric acid type A receptor subunits 563 1994-07-15 2019-11-26 2019-11-26 2557 ENSG00000109158 OTTHUMG00000099431 uc003gxg.3 NM_000809 CCDS3473 P48169 7607683 MGI:95616 RGD:621670 137141 objectId:407 HGNC:4078 "ENST00000264318.4|NM_000809.4" +HGNC:4079 GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 protein-coding gene gene with protein product Approved 15q12 15q12 GABA(A) receptor, alpha 5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 Gamma-aminobutyric acid type A receptor subunits 563 1992-08-07 2019-11-26 2021-05-26 2558 ENSG00000186297 OTTHUMG00000171824 uc001zbd.3 NM_000810 CCDS45194 P31644 1321750 MGI:95617 RGD:61859 137142 objectId:408 HGNC:4079 "ENST00000335625.10|NM_000810.4" HGNC:4079 +HGNC:4080 GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 protein-coding gene gene with protein product Approved 5q34 05q34 GABA(A) receptor, alpha 6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 Gamma-aminobutyric acid type A receptor subunits 563 1994-04-20 2019-11-26 2019-11-26 2559 ENSG00000145863 OTTHUMG00000130351 uc003lyu.3 NM_000811 CCDS4356 Q16445 8020978 MGI:95618 RGD:61861 137143 objectId:409 HGNC:4080 "ENST00000274545.10|NM_000811.3" +HGNC:4081 GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 protein-coding gene gene with protein product Approved 4p12 04p12 GABA(A) receptor, beta 1 gamma-aminobutyric acid (GABA) A receptor, beta 1 Gamma-aminobutyric acid type A receptor subunits 563 1989-06-02 2019-11-26 2021-05-26 2560 ENSG00000163288 OTTHUMG00000044269 uc003gxh.4 NM_000812 CCDS3474 P18505 MGI:95619 RGD:2649 137190 470364 objectId:410 HGNC:4081 "ENST00000295454.8|NM_000812.4" HGNC:4081 +HGNC:4082 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 protein-coding gene gene with protein product Approved 5q34 05q34 GABA(A) receptor, beta 2 gamma-aminobutyric acid (GABA) A receptor, beta 2 Gamma-aminobutyric acid type A receptor subunits 563 1994-04-29 2019-11-26 2021-05-26 2561 ENSG00000145864 OTTHUMG00000130349 uc063jhc.1 NM_000813 "CCDS4354|CCDS4355" P47870 7851879 MGI:95620 RGD:2650 600232 470366 objectId:411 HGNC:4082 "ENST00000393959.6|NM_001371727.1" HGNC:4082 +HGNC:4083 GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 protein-coding gene gene with protein product Approved 15q12 15q12 GABA(A) receptor, beta 3 gamma-aminobutyric acid (GABA) A receptor, beta 3 Gamma-aminobutyric acid type A receptor subunits 563 1991-06-05 2019-11-26 2021-05-26 2562 ENSG00000166206 OTTHUMG00000129231 uc001zaz.5 NM_000814 "CCDS53921|CCDS10019|CCDS53920|CCDS10018" P28472 MGI:95621 RGD:2651 137192 159621 objectId:412 HGNC:4083 "ENST00000311550.10|NM_000814.6" HGNC:4083 +HGNC:4084 GABRD gamma-aminobutyric acid type A receptor subunit delta protein-coding gene gene with protein product Approved 1p36.33 01p36.33 GABA(A) receptor, delta gamma-aminobutyric acid (GABA) A receptor, delta Gamma-aminobutyric acid type A receptor subunits 563 1991-08-06 2019-11-26 2019-11-26 2563 ENSG00000187730 OTTHUMG00000041064 uc001aip.3 BC033801 NM_000815 CCDS36 O14764 "2176788|10965146" MGI:95622 RGD:61901 137163 121991 objectId:416 HGNC:4084 "ENST00000378585.7|NM_000815.5" HGNC:4084 +HGNC:4085 GABRE gamma-aminobutyric acid type A receptor subunit epsilon protein-coding gene gene with protein product Approved Xq28 Xq28 GABA(A) receptor, epsilon gamma-aminobutyric acid (GABA) A receptor, epsilon "Gamma-aminobutyric acid type A receptor subunits|MicroRNA protein coding host genes" "563|1691" 1997-03-19 2019-11-26 2020-04-02 2564 ENSG00000102287 OTTHUMG00000024176 uc004ffi.3 Y09765 "NM_004961|NM_021990|NM_021984" CCDS14703 P78334 "9039914|9084408" MGI:1330235 RGD:68320 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GABRE 300093 objectId:417 HGNC:4085 "ENST00000370328.4|NM_004961.4" +HGNC:4086 GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 protein-coding gene gene with protein product Approved 4p12 04p12 GABA(A) receptor, gamma gamma-aminobutyric acid (GABA) A receptor, gamma 1 Gamma-aminobutyric acid type A receptor subunits 563 1991-07-09 2019-11-26 2019-11-26 2565 ENSG00000163285 OTTHUMG00000128609 uc003gxb.4 BC031087 NM_173536 CCDS3470 Q8N1C3 1321425 MGI:103156 RGD:621732 137166 objectId:413 HGNC:4086 "ENST00000295452.5|NM_173536.4" +HGNC:4087 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 protein-coding gene gene with protein product Approved 5q34 05q34 GABA(A) receptor, gamma 2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 Gamma-aminobutyric acid type A receptor subunits 563 1991-02-26 2019-11-26 2021-05-26 2566 ENSG00000113327 OTTHUMG00000130350 uc003lyy.5 NM_000816 "CCDS4358|CCDS4359|CCDS47333" P18507 MGI:95623 RGD:61966 137164 121993 objectId:414 HGNC:4087 "ENST00000639213.2|NM_198904.4" HGNC:4087 +HGNC:4088 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 protein-coding gene gene with protein product Approved 15q12 15q12 GABA(G) receptor, gamma 3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 Gamma-aminobutyric acid type A receptor subunits 563 1994-07-15 2019-11-26 2019-11-26 2567 ENSG00000182256 OTTHUMG00000044462 uc001zbg.3 NM_001270873 "CCDS45195|CCDS59251" Q99928 7601451 MGI:95624 RGD:621735 600233 objectId:415 HGNC:4088 "ENST00000615808.5|NM_033223.5" +HGNC:40249 GABRG3-AS1 GABRG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q12 15q12 Antisense RNAs 1987 2014-11-21 2014-11-21 101928869 ENSG00000228740 OTTHUMG00000056664 "DB073112|BU567553" NR_120343 GABRG3-AS1 HGNC:40249 +HGNC:4089 GABRP gamma-aminobutyric acid type A receptor subunit pi protein-coding gene gene with protein product Approved 5q35.1 05q35.1 GABA(A) receptor, pi gamma-aminobutyric acid (GABA) A receptor, pi Gamma-aminobutyric acid type A receptor subunits 563 1997-06-18 2019-11-26 2019-11-26 2568 ENSG00000094755 OTTHUMG00000130443 uc003mau.4 U95367 NM_014211 "CCDS75368|CCDS4375" O00591 9182563 MGI:2387597 RGD:620532 602729 objectId:419 HGNC:4089 "ENST00000265294.9|NM_014211.3" +HGNC:14454 GABRQ gamma-aminobutyric acid type A receptor subunit theta protein-coding gene gene with protein product Approved Xq28 Xq28 GABA(A) receptor, theta gamma-aminobutyric acid (GABA) receptor, theta Gamma-aminobutyric acid type A receptor subunits 563 2001-01-24 2019-11-26 2021-05-26 55879 ENSG00000268089 OTTHUMG00000022649 uc004ffp.2 U47334 NM_018558 CCDS14707 Q9UN88 "10804200|10449790" MGI:1888498 RGD:68331 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GABRQ 300349 objectId:418 HGNC:14454 "ENST00000598523.3|NM_018558.4" +HGNC:4090 GABRR1 gamma-aminobutyric acid type A receptor subunit rho1 protein-coding gene gene with protein product Approved 6q15 06q15 GABA(A) receptor, rho 1 gamma-aminobutyric acid (GABA) receptor, rho 1 Gamma-aminobutyric acid type A receptor subunits 563 1991-08-08 2019-11-26 2019-11-26 2569 ENSG00000146276 OTTHUMG00000015195 uc003pna.3 NM_001256703 "CCDS59029|CCDS59028|CCDS5019" P24046 "1849271|1315307" MGI:95625 RGD:61900 137161 objectId:420 HGNC:4090 "ENST00000454853.7|NM_002042.5" +HGNC:4091 GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 protein-coding gene gene with protein product Approved 6q15 06q15 GABA(A) receptor, rho 2 gamma-aminobutyric acid (GABA) receptor, rho 2 Gamma-aminobutyric acid type A receptor subunits 563 1991-10-22 2019-11-26 2019-11-26 2570 ENSG00000111886 OTTHUMG00000015198 uc003pnb.4 NM_002043 CCDS5020 P28476 1315307 MGI:95626 RGD:61902 137162 objectId:421 HGNC:4091 "ENST00000402938.4|NM_002043.5" +HGNC:17969 GABRR3 gamma-aminobutyric acid type A receptor subunit rho3 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 GABA(A) receptor, rho 3 "gamma-aminobutyric acid (GABA) receptor, rho 3|gamma-aminobutyric acid type A receptor subunit rho3 (gene/pseudogene)" Gamma-aminobutyric acid type A receptor subunits 563 2004-07-28 2020-05-01 2020-05-01 200959 ENSG00000183185 OTTHUMG00000159135 uc021xbo.2 Y18994 NM_001105580 CCDS54617 A8MPY1 10542332 MGI:3588203 RGD:621564 618668 objectId:422 HGNC:17969 +HGNC:48336 GACAT1 gastric cancer associated transcript 1 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 "LINC00876|AC096655.1-002" long intergenic non-protein coding RNA 876 gastric cancer associated transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-05 2018-05-16 2018-05-16 104326057 ENSG00000232991 OTTHUMG00000153313 DB096621 NR_126369 "23645148|24833871" gacat1 GACAT1 HGNC:48336 +HGNC:50516 GACAT2 gastric cancer associated transcript 2 non-coding RNA RNA, long non-coding Approved 18p11.22 18p11.22 HMlincRNA717 MTCL1-AS1 "MTCL1 antisense RNA 1|gastric cancer associated transcript 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2014-05-14 2014-06-26 2018-05-16 2018-08-17 100287082 ENSG00000265962 OTTHUMG00000178955 BM709340 NR_120598 "24833871|24063685|24961350|25077925" 616131 GACAT2 HGNC:50516 +HGNC:50847 GACAT3 gastric cancer associated transcript 3 non-coding RNA RNA, long non-coding Approved 2p24.3 02p24.3 lncRNA-AC130710 LINC01458 "long intergenic non-protein coding RNA 1458|gastric cancer associated transcript 3 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2014-06-25 2014-07-01 2018-05-16 2018-07-25 104797537 ENSG00000236289 OTTHUMG00000151744 "BX375330|BX107472" NR_126559 "24969565|25077925" 616132 GACAT3 HGNC:50847 +HGNC:4092 GAD1 glutamate decarboxylase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 GAD "glutamate decarboxylase 1 (brain, 67kD)|glutamate decarboxylase 1 (brain, 67kDa)" 1986-01-01 2015-11-05 2021-05-26 2571 ENSG00000128683 OTTHUMG00000044175 uc002ugi.4 NM_000817 "CCDS2239|CCDS2240" Q99259 1549570 MGI:95632 RGD:2652 605363 270043 objectId:1272 4.1.1.15 HGNC:4092 "ENST00000358196.8|NM_000817.3" HGNC:4092 +HGNC:4093 GAD2 glutamate decarboxylase 2 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 GAD65 "glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)|glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)" 1991-11-29 2015-11-05 2016-10-05 2572 ENSG00000136750 OTTHUMG00000017836 uc001isp.3 AJ251501 NM_000818 CCDS7149 Q05329 2039509 MGI:95634 RGD:2653 138275 objectId:1273 4.1.1.15 HGNC:4093 "ENST00000376261.8|NM_001134366.2" +HGNC:55684 GAD3P glutamate decarboxylase family member 3, pseudogene pseudogene pseudogene Approved 18q21.32 18q21.32 2021-07-02 2021-07-02 105372156 ENSG00000267382 27461130 +HGNC:4095 GADD45A growth arrest and DNA damage inducible alpha protein-coding gene gene with protein product Approved 1p31.3 01p31.3 GADD45 DDIT1 growth arrest and DNA-damage-inducible, alpha 1991-08-17 2015-11-16 2019-02-01 1647 ENSG00000116717 OTTHUMG00000009374 uc001ddz.3 M60974 NM_001924 "CCDS640|CCDS72806|CCDS55605" P24522 "1990262|8226988|30617255" MGI:107799 RGD:2654 126335 HGNC:4095 "ENST00000370986.9|NM_001924.4" +HGNC:2725 GADD45AP1 growth arrest and DNA damage inducible alpha pseudogene 1 pseudogene pseudogene Approved 12q21.32 12q21.32 "DDIT1L|GADD45AL" "DNA-damage-inducible transcript 1-like|growth arrest and DNA-damage-inducible, alpha-like|growth arrest and DNA-damage-inducible, alpha pseudogene 1" 1991-08-17 2010-08-27 2015-11-16 2015-11-16 1648 NG_031939 1990262 HGNC:2725 +HGNC:4096 GADD45B growth arrest and DNA damage inducible beta protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "GADD45BETA|DKFZP566B133" "myeloid differentiation primary response|growth arrest and DNA-damage-inducible beta" MYD118 growth arrest and DNA-damage-inducible, beta 1994-01-10 2015-11-16 2015-11-16 4616 ENSG00000099860 OTTHUMG00000180434 uc002lwb.3 AF090950 NM_015675 CCDS32868 O75293 "1899477|9827804" MGI:107776 RGD:1309080 604948 HGNC:4096 "ENST00000215631.9|NM_015675.4" +HGNC:4097 GADD45G growth arrest and DNA damage inducible gamma protein-coding gene gene with protein product Approved 9q22.2 09q22.2 "DDIT2|GADD45gamma|GRP17|CR6" "gadd-related protein, 17 kD|growth arrest and DNA-damage-inducible gamma" growth arrest and DNA-damage-inducible, gamma 1999-09-06 2015-11-16 2016-10-05 10912 ENSG00000130222 OTTHUMG00000020187 uc004aqq.4 D83023 NM_006705 CCDS6686 O95257 "9827804|10496071" MGI:1346325 RGD:1311796 604949 469172 HGNC:4097 "ENST00000252506.11|NM_006705.4" +HGNC:29996 GADD45GIP1 GADD45G interacting protein 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "PLINP-1|MGC4667|MGC4758|CKBBP2|PRG6|Plinp1|CRIF1|CKbetaBP2" "papillomavirus L2 interacting nuclear protein 1|CKII beta binding protein 2|CR6 interacting factor 1|p53-responsive gene 6" growth arrest and DNA-damage-inducible, gamma interacting protein 1 2004-03-30 2015-11-16 2016-10-05 90480 ENSG00000179271 OTTHUMG00000180724 uc002mwb.5 AF479749 NM_052850 CCDS12290 Q8TAE8 "10441517|12482659" MGI:1914947 RGD:1309249 605162 HGNC:29996 "ENST00000316939.3|NM_052850.4" +HGNC:27949 GADL1 glutamate decarboxylase like 1 protein-coding gene gene with protein product Approved 3p24.1-p23 03p24.1-p23 glutamate decarboxylase-like 1 2004-07-28 2015-11-11 2018-02-13 339896 ENSG00000144644 OTTHUMG00000130621 uc003cep.3 AK128643 NM_207359 CCDS2649 Q6ZQY3 MGI:1920998 RGD:1565145 615601 HGNC:27949 "ENST00000282538.10|NM_207359.3" +HGNC:4098 GAGE1 G antigen 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 CT4.1 cancer/testis antigen family 4, member 1 GAGE family 1845 1995-05-10 2014-11-19 2543 ENSG00000205777 OTTHUMG00000024150 uc064zfw.1 U19142 NM_001468 CCDS43950 P0DTW1 7544395 300594 HGNC:4098 "ENST00000381700.11|NM_001040663.4" +HGNC:4099 GAGE2A G antigen 2A protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 CT4.2 cancer/testis antigen family 4, member 2 GAGE2 G antigen 2 GAGE family 1845 1995-05-10 2007-07-23 2007-07-23 2014-11-19 729447 ENSG00000189064 OTTHUMG00000024143 uc004doi.6 U19143 NM_001127212 CCDS48114 Q6NT46 7544395 300720 HGNC:4099 "ENST00000362097.2|NM_001127212.4" +HGNC:31957 GAGE2B G antigen 2B protein-coding gene gene with protein product Approved Xp11.23 not on reference assembly Xp11.23 not on reference assembly GAGE family 1845 2007-11-07 2016-11-09 645037 NM_001098411 Q13066 300726 HGNC:31957 +HGNC:31958 GAGE2C G antigen 2C protein-coding gene gene with protein product Approved Xp11.23 not on reference assembly Xp11.23 not on reference assembly GAGE family 1845 2007-11-07 2016-11-09 2574 NM_001472 Q13066 300595 HGNC:31958 +HGNC:31959 GAGE2D G antigen 2D protein-coding gene gene with protein product Approved Xp11.23 not on reference assembly Xp11.23 not on reference assembly GAGE8 GAGE family 1845 2007-11-07 2016-01-29 729408 NM_001098407 Q9UEU5 300735 HGNC:31959 +HGNC:31960 GAGE2E G antigen 2E protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 GAGE8 GAGE family 1845 2007-11-07 2016-11-10 26749 ENSG00000275113 OTTHUMG00000067394 uc064zfu.1 NM_001127200 Q4V326 300736 HGNC:31960 +HGNC:4101 GAGE4 G antigen 4 protein-coding gene gene with protein product Approved Xp11.4-p11.2 not on reference assembly Xp11.4-p11.2 not on reference assembly CT4.4 cancer/testis antigen family 4, member 4 GAGE family 1845 1995-05-10 2019-06-20 2576 U19145 NM_001474 P0DSO3 7544395 300597 +HGNC:4102 GAGE5 G antigen 5 protein-coding gene gene with protein product Approved Xp11.4-p11.2 not on reference assembly Xp11.4-p11.2 not on reference assembly CT4.5 cancer/testis antigen family 4, member 5 GAGE family 1845 1995-05-10 2019-06-20 2577 U19146 NM_001475 Q13069 7544395 300598 +HGNC:4103 GAGE6 G antigen 6 protein-coding gene gene with protein product Approved Xp11.4-p11.2 not on reference assembly Xp11.4-p11.2 not on reference assembly CT4.6 cancer/testis antigen family 4, member 6 GAGE family 1845 1995-05-10 2019-06-20 2578 U19147 NM_001476 Q13070 7544395 300599 +HGNC:4104 GAGE7 G antigen 7 protein-coding gene gene with protein product Approved Xp11.4-p11.2 not on reference assembly Xp11.4-p11.2 not on reference assembly "GAGE-7|CT4.7" cancer/testis antigen family 4, member 7 GAGE family 1845 1998-08-10 2019-06-20 2579 AF058988 NM_021123 O76087 9651357 300601 +HGNC:4106 GAGE8 G antigen 8 protein-coding gene gene with protein product Approved Xp11 not on reference assembly Xp11 not on reference assembly CT4.8 cancer/testis antigen family 4, member 8 GAGE family 1845 1999-12-14 2019-06-20 100101629 AF055473 NM_012196 Q9UEU5 10397259 300638 +HGNC:30968 GAGE10 G antigen 10 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024136 GAGE family 1845 2006-07-04 2014-12-18 102724473 ENSG00000215274 OTTHUMG00000024136 uc033ede.2 NM_001098413 CCDS78483 A6NGK3 300737 HGNC:30968 "ENST00000407599.4|NM_001098413.4" +HGNC:26779 GAGE12B G antigen 12B protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024142 GAGE family 1845 2006-07-04 2017-04-12 729428 ENSG00000236737 OTTHUMG00000024142 uc064zfv.1 BC130374 NM_001127345 A1L429 HGNC:26779 +HGNC:28402 GAGE12C G antigen 12C protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024144 GAGE family 1845 2006-07-04 2014-11-18 729422 ENSG00000237671 OTTHUMG00000024144 uc004doc.5 NM_001098408 CCDS43943 A1L429 300727 HGNC:28402 "ENST00000420398.3|NM_001098408.3" +HGNC:31904 GAGE12D G antigen 12D protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024145 GAGE family 1845 2006-07-04 2014-11-19 100132399 ENSG00000227488 OTTHUMG00000024145 uc004dod.5 NM_001127199 CCDS48113 A1L429 300728 HGNC:31904 "ENST00000405679.4|NM_001127199.3" +HGNC:31905 GAGE12E G antigen 12E protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024146 GAGE family 1845 2006-07-04 2014-11-18 729431 ENSG00000216649 OTTHUMG00000024146 uc004doe.5 NM_001098418 CCDS43945 A1L429 300729 HGNC:31905 "ENST00000381698.5|NM_001098418.3" +HGNC:31906 GAGE12F G antigen 12F protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024147 GAGE family 1845 2006-07-04 2014-11-19 100008586 ENSG00000236362 OTTHUMG00000024147 uc004dof.5 NM_001098405 CCDS43946 P0CL80 300730 HGNC:31906 "ENST00000440137.2|NM_001098405.3" +HGNC:31907 GAGE12G G antigen 12G protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024148 GAGE family 1845 2006-07-04 2014-11-19 645073 ENSG00000215269 OTTHUMG00000024148 uc004dog.5 NM_001098409 CCDS43947 P0CL81 300731 HGNC:31907 "ENST00000445148.2|NM_001098409.4" +HGNC:31908 GAGE12H G antigen 12H protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024149 GAGE family 1845 2006-07-04 2014-11-19 729442 ENSG00000224902 OTTHUMG00000024149 uc004doh.5 NM_001098410 CCDS43948 A6NDE8 300732 HGNC:31908 "ENST00000381722.2|NM_001098410.3" +HGNC:4105 GAGE12I G antigen 12I protein-coding gene gene with protein product Approved Xp11.23 not on reference assembly Xp11.23 not on reference assembly OTTHUMG00000067390 GAGE7B G antigen 7B GAGE family 1845 1999-12-14 2007-07-23 2007-07-23 2015-01-09 26748 AF055474 P0CL82 "10397259|23029259" 300637 HGNC:4105 +HGNC:17778 GAGE12J G antigen 12J protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024137 GAGE11 G antigen 11 GAGE family 1845 2006-07-04 2007-07-23 2007-07-23 2014-11-19 729396 ENSG00000224659 OTTHUMG00000024137 uc033edf.2 NM_001098406 CCDS43939 A6NER3 300733 HGNC:17778 "ENST00000442437.3|NM_001098406.4" +HGNC:29081 GAGE13 G antigen 13 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMG00000024138 GAGE12A G antigen 12A GAGE family 1845 2006-07-04 2007-07-23 2007-07-23 2016-11-11 645051 ENSG00000274274 OTTHUMG00000024138 uc064zft.1 NM_001098412 CCDS48110 Q4V321 300734 HGNC:29081 "ENST00000612958.2|NM_001098412.4" +HGNC:4113 GAK cyclin G associated kinase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 DNAJC26 auxilin-2 "DNAJ (HSP40) heat shock proteins|C2 tensin-type domain containing" "584|837" 1997-01-09 2016-10-05 2580 ENSG00000178950 OTTHUMG00000088301 uc003gbm.6 D88435 NM_005255 "CCDS82902|CCDS3340" O14976 9299234 MGI:2442153 RGD:621589 602052 objectId:2027 HGNC:4113 "ENST00000314167.9|NM_005255.4" +HGNC:4114 GAL galanin and GMAP prepropeptide protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "GMAP|GAL-GMAP|GLNN" galanin-message-associated peptide GALN galanin Neuropeptides 1902 1993-06-22 2016-04-29 2016-04-29 51083 ENSG00000069482 OTTHUMG00000167890 uc001oob.4 L11144 NM_001479 CCDS8183 P22466 7508413 MGI:95637 RGD:61954 137035 470368 ligandId:3592 HGNC:4114 "ENST00000265643.4|NM_015973.5" +HGNC:24240 GAL3ST1 galactose-3-O-sulfotransferase 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 CST cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase Sulfotransferases, membrane bound 763 2004-03-23 2014-11-19 9514 ENSG00000128242 OTTHUMG00000151200 uc062ddw.1 D88667 NM_004861 CCDS13879 Q99999 "9847074|9030544" MGI:1858277 RGD:1583379 602300 HGNC:24240 "ENST00000406361.6|NM_001318104.2" +HGNC:24869 GAL3ST2 galactose-3-O-sulfotransferase 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 GP3ST Sulfotransferases, membrane bound 763 2004-03-23 2016-10-05 64090 ENSG00000154252 OTTHUMG00000151473 uc002wcj.2 AB040610 NM_022134 CCDS33427 Q9H3Q3 11029462 "MGI:2685834|MGI:3711964|MGI:3646771" RGD:1593854 608237 HGNC:24869 "ENST00000192314.7|NM_022134.3" +HGNC:24144 GAL3ST3 galactose-3-O-sulfotransferase 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 GAL3ST2 Sulfotransferases, membrane bound 763 2004-04-01 2014-11-19 89792 ENSG00000175229 OTTHUMG00000166667 uc001ogw.4 AY026481 NM_033036 CCDS8128 Q96A11 "11323440|11356829" MGI:3617843 RGD:1564991 608234 HGNC:24144 "ENST00000312006.5|NM_033036.3" +HGNC:24145 GAL3ST4 galactose-3-O-sulfotransferase 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ12116 Sulfotransferases, membrane bound 763 2004-03-23 2014-11-18 79690 ENSG00000197093 OTTHUMG00000154885 uc003utu.4 AF316113 NM_024637 CCDS5688 Q96RP7 11333265 MGI:1916254 RGD:1561105 608235 HGNC:24145 "ENST00000360039.9|NM_024637.5" +HGNC:4115 GALC galactosylceramidase protein-coding gene gene with protein product Approved 14q31.3 14q31.3 Krabbe disease galactosylceramidase (Krabbe disease) Glycoside hydrolases 1650 1989-06-02 2005-11-29 2021-05-26 2581 ENSG00000054983 OTTHUMG00000028646 uc001xvt.3 L23116 NM_000153 "CCDS9878|CCDS55936|CCDS55937" P54803 MGI:95636 RGD:1359384 606890 121995 3.2.1.46 HGNC:4115 "ENST00000261304.7|NM_000153.4" HGNC:4115 +HGNC:4116 GALE UDP-galactose-4-epimerase protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SDR1E1 "short chain dehydrogenase/reductase family 1E, member 1|UDP-glucose 4-epimerase" galactose-4-epimerase, UDP- Short chain dehydrogenase/reductase superfamily 743 2001-06-22 2004-11-17 2021-05-26 2582 ENSG00000117308 OTTHUMG00000002958 uc001bhx.1 BC050685 NM_000403 CCDS242 Q14376 "8593531|19027726|26162744" MGI:1921496 RGD:621493 606953 121997 5.1.3.2 HGNC:4116 "ENST00000617979.5|NM_001008216.2" HGNC:4116 +HGNC:4118 GALK1 galactokinase 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 GALK 1986-01-01 2021-05-26 2584 ENSG00000108479 OTTHUMG00000179832 uc032frw.2 NM_000154 CCDS11728 P51570 7670469 MGI:95730 RGD:1305375 LRG_1430|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1430.xml 604313 121999 2.7.1.6 HGNC:4118 "ENST00000588479.6|NM_000154.2" HGNC:4118 +HGNC:4119 GALK2 galactokinase 2 protein-coding gene gene with protein product Approved 15q21.1-q21.2 15q21.1-q21.2 GK2 1993-01-04 2018-02-13 2585 ENSG00000156958 OTTHUMG00000172325 uc001zxj.3 NM_001001556 "CCDS42034|CCDS73724|CCDS32236" Q01415 MGI:1917226 RGD:1308691 137028 2.7.1.6 HGNC:4119 "ENST00000560031.6|NM_002044.4" +HGNC:24063 GALM galactose mutarotase protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "aldose 1-epimerase|aldose mutarotase|galactomutarotase" 2004-01-13 2016-05-26 2016-10-05 130589 ENSG00000143891 OTTHUMG00000102077 uc002rqy.4 NM_138801 CCDS1797 Q96C23 12753898 MGI:2442420 RGD:1359459 137030 5.1.3.3 HGNC:24063 "ENST00000272252.10|NM_138801.3" HGNC:24063 +HGNC:4122 GALNS galactosamine (N-acetyl)-6-sulfatase protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "GAS|GALNAC6S|GalN6S" "Morquio syndrome|mucopolysaccharidosis type IVA|N-acetylgalactosamine-6-sulfatase|chondroitinase|chondroitinsulfatase|galactose-6-sulfate sulfatase" galactosamine (N-acetyl)-6-sulfate sulfatase Sulfatases 410 1992-02-21 2014-07-03 2021-05-26 2588 ENSG00000141012 OTTHUMG00000137862 uc002fly.4 D17629 NM_000512 CCDS10970 P34059 1755850 MGI:1355303 RGD:1565391 612222 122002 objectId:2765 3.1.6.4 HGNC:4122 "ENST00000268695.10|NM_000512.5" HGNC:4122 +HGNC:4123 GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 GalNAc-T1 "protein-UDP acetylgalactosaminyltransferase 1|polypeptide GalNAc transferase 1" UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) "Polypeptide N-acetylgalactosaminyltransferases|MicroRNA protein coding host genes" "433|1691" 1996-10-26 2014-03-13 2016-10-05 2589 ENSG00000141429 OTTHUMG00000132567 uc002kzb.4 NM_020474 CCDS11915 Q10472 "7592619|12199709" MGI:894693 RGD:620358 602273 2.4.1.41 HGNC:4123 "ENST00000269195.6|NM_020474.4" +HGNC:4124 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 GalNAc-T2 polypeptide GalNAc transferase 2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) Polypeptide N-acetylgalactosaminyltransferases 433 1996-10-26 2014-03-13 2016-10-05 2590 ENSG00000143641 OTTHUMG00000037771 uc010pwa.2 BC041120 NM_004481 CCDS1582 Q10471 "9592121|7592619" MGI:894694 RGD:1310692 602274 2.4.1.41 HGNC:4124 "ENST00000366672.5|NM_004481.5" HGNC:4124 +HGNC:4125 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "GalNAc-T3|HHS|HFTC" polypeptide GalNAc transferase 3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) Polypeptide N-acetylgalactosaminyltransferases 433 1996-10-26 2014-03-13 2016-10-05 2591 ENSG00000115339 OTTHUMG00000132157 uc010fph.2 NM_004482 CCDS2226 Q14435 "9592121|15133511" MGI:894695 RGD:1306443 601756 122006 2.4.1.41 HGNC:4125 "ENST00000392701.8|NM_004482.4" HGNC:4125 +HGNC:4126 GALNT4 polypeptide N-acetylgalactosaminyltransferase 4 protein-coding gene gene with protein product Approved 12q21.33 12q21.33 GalNAc-T4 polypeptide GalNAc transferase 4 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) Polypeptide N-acetylgalactosaminyltransferases 433 1998-11-13 2014-03-13 2015-08-27 8693 ENSG00000257594 OTTHUMG00000166292 uc001tbd.4 Y08564 NM_003774 CCDS53817 Q8N4A0 9804815 MGI:894692 RGD:1564589 603565 2.4.1.41 HGNC:4126 "ENST00000529983.3|NM_003774.5" +HGNC:4127 GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 GalNAc-T5 polypeptide GalNAc transferase 5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) Polypeptide N-acetylgalactosaminyltransferases 433 1999-09-16 2014-03-13 2014-11-19 11227 ENSG00000136542 OTTHUMG00000131965 uc002tzg.4 AJ245539 NM_014568 CCDS2203 Q7Z7M9 10545594 MGI:2179403 RGD:620361 615129 2.4.1.41 HGNC:4127 "ENST00000259056.5|NM_014568.3" +HGNC:4128 GALNT6 polypeptide N-acetylgalactosaminyltransferase 6 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 GalNAc-T6 polypeptide GalNAc transferase 6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) Polypeptide N-acetylgalactosaminyltransferases 433 1999-09-16 2014-03-13 2016-10-05 11226 ENSG00000139629 OTTHUMG00000185181 uc001ryl.2 Y08565 NM_007210 CCDS8813 Q8NCL4 10464263 MGI:1891640 RGD:2319726 605148 HGNC:4128 "ENST00000356317.8|NM_007210.4" +HGNC:4129 GALNT7 polypeptide N-acetylgalactosaminyltransferase 7 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 GALNAC-T7 polypeptide GalNAc transferase 7 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) "Polypeptide N-acetylgalactosaminyltransferases|MicroRNA protein coding host genes" "433|1691" 1999-09-16 2014-03-13 2016-10-05 51809 ENSG00000109586 OTTHUMG00000160817 uc003isz.4 AJ002744 NM_017423 CCDS3815 Q86SF2 10544240 MGI:1349449 RGD:620362 605005 HGNC:4129 "ENST00000265000.9|NM_017423.3" +HGNC:55604 GALNT7-DT GALNT7 divergent transcript non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 Divergent transcripts 1990 2021-06-07 2021-06-07 101930370 ENSG00000245213 NR_134241 +HGNC:4130 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 GALNAC-T8 polypeptide GalNAc transferase 8 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) Polypeptide N-acetylgalactosaminyltransferases 433 1999-11-26 2014-03-13 2015-08-27 26290 ENSG00000130035 OTTHUMG00000166188 uc001qne.2 AJ271385 NM_017417 CCDS8533 Q9NY28 10767557 RGD:9174049 606250 2.4.1.41 HGNC:4130 "ENST00000252318.7|NM_017417.2" +HGNC:4131 GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 GALNAC-T9 polypeptide GalNAc transferase 9 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) Polypeptide N-acetylgalactosaminyltransferases 433 2000-03-29 2014-03-13 2015-09-11 50614 ENSG00000182870 OTTHUMG00000168256 uc001ukc.5 AB040672 NM_001122636 "CCDS81755|CCDS41866" Q9HCQ5 "10978536|12407114" MGI:2677965 RGD:1311523 606251 2.4.1.41 HGNC:4131 "ENST00000328957.13|NM_001122636.2" +HGNC:19873 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 GalNAc-T10 polypeptide GalNAc transferase 10 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) "Polypeptide N-acetylgalactosaminyltransferases|MicroRNA protein coding host genes" "433|1691" 2002-11-28 2014-03-13 2016-10-05 55568 ENSG00000164574 OTTHUMG00000130145 uc003lvh.4 AK023782 NM_198321 CCDS4325 Q86SR1 12417297 MGI:1890480 RGD:69409 608043 2.4.1.41 HGNC:19873 "ENST00000297107.11|NM_198321.4" +HGNC:19875 GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 GalNAc-T11 polypeptide GalNAc transferase 11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) Polypeptide N-acetylgalactosaminyltransferases 433 2002-11-28 2014-05-09 2015-08-27 63917 ENSG00000178234 OTTHUMG00000157251 uc010lqg.2 AC006017 NM_022087 CCDS5930 Q8NCW6 11925450 MGI:2444392 RGD:735097 615130 470370 2.4.1.41 HGNC:19875 "ENST00000430044.7|NM_022087.4" +HGNC:19877 GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 GalNAc-T12 polypeptide GalNAc transferase 12 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) Polypeptide N-acetylgalactosaminyltransferases 433 2002-11-28 2014-03-13 2015-09-11 79695 ENSG00000119514 OTTHUMG00000020348 uc004ayz.3 AB078146 NM_024642 CCDS6737 Q8IXK2 12135769 MGI:2444664 RGD:1562001 610290 469175 2.4.1.41 HGNC:19877 "ENST00000375011.4|NM_024642.5" HGNC:19877 +HGNC:23242 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 protein-coding gene gene with protein product Approved 2q23.3-q24.1 02q23.3-q24.1 "KIAA1918|GalNAc-T13" "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13|polypeptide GalNAc transferase 13" UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) Polypeptide N-acetylgalactosaminyltransferases 433 2003-12-02 2014-03-13 2018-02-13 114805 ENSG00000144278 OTTHUMG00000131917 uc002tyr.5 AB067505 NM_052917 "CCDS77472|CCDS2199" Q8IUC8 "11572484|12407114" MGI:2139447 RGD:735044 608369 2.4.1.41 HGNC:23242 "ENST00000392825.8|NM_052917.4" +HGNC:22946 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 "GalNac-T10|FLJ12691|GalNac-T14" polypeptide GalNAc transferase 14 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) Polypeptide N-acetylgalactosaminyltransferases 433 2003-11-13 2014-03-13 2016-10-05 79623 ENSG00000158089 OTTHUMG00000074077 uc002rnr.4 AB078144 NM_024572 "CCDS1773|CCDS58706|CCDS58705" Q96FL9 12507512 MGI:1918935 RGD:1310068 608225 2.4.1.41 HGNC:22946 "ENST00000349752.10|NM_024572.4" +HGNC:21531 GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "GALNT7|pp-GalNAc-T15" polypeptide GalNAc transferase 15 GALNTL2 "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15" Polypeptide N-acetylgalactosaminyltransferases 433 2004-03-11 2013-01-25 2014-03-13 2020-04-27 117248 ENSG00000131386 OTTHUMG00000156893 uc003car.5 AY358443 NM_054110 "CCDS82742|CCDS33711" Q8N3T1 15147861 MGI:1926004 RGD:2322081 615131 2.4.1.41 HGNC:21531 "ENST00000339732.10|NM_054110.5" +HGNC:23233 GALNT16 polypeptide N-acetylgalactosaminyltransferase 16 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "KIAA1130|GalNAc-T16" polypeptide GalNAc transferase 16 GALNTL1 "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16" Polypeptide N-acetylgalactosaminyltransferases 433 2003-10-30 2013-01-25 2014-03-13 2015-09-11 57452 ENSG00000100626 OTTHUMG00000171231 uc001xlb.3 AB032956 NM_001168368 CCDS32107 Q8N428 "10574461|22186971" MGI:1917754 RGD:1310202 615132 2.4.1.41 HGNC:23233 "ENST00000448469.8|NM_001168368.2" +HGNC:55435 GALNT16-AS1 GALNT16 and EXD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.1 14q24.1 Antisense RNAs 1987 2021-01-14 2021-01-14 105370550 ENSG00000258957 XR_007064230 +HGNC:16347 GALNT17 polypeptide N-acetylgalactosaminyltransferase 17 protein-coding gene gene with protein product Approved 7q11.22 07q11.22 "GALNTL3|GalNAc-T5L|GalNAc-T19|GalNAc-T17|ppGalNAc-T17" "polypeptide N-acetylgalactosaminyltransferase-like 3|polypeptide GalNAc transferase 3" WBSCR17 Williams-Beuren syndrome chromosome region 17 "Polypeptide N-acetylgalactosaminyltransferases|MicroRNA protein coding host genes" "433|1691" 2001-08-08 2017-05-04 2017-05-04 2019-04-25 64409 ENSG00000185274 OTTHUMG00000129783 uc003tvy.5 AF410457 NM_022479 CCDS5540 Q6IS24 "12073013|15744064|22787146" MGI:2137594 RGD:1563452 615137 HGNC:16347 "ENST00000333538.10|NM_022479.3" +HGNC:30488 GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "MGC71806|GALNT15|GalNAc-T18" polypeptide GalNAc transferase 18 GALNTL4 "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18" Polypeptide N-acetylgalactosaminyltransferases 433 2004-07-21 2013-01-25 2014-03-13 2016-10-05 374378 ENSG00000110328 OTTHUMG00000165707 uc001mjo.3 AK055111 NM_198516 CCDS7807 Q6P9A2 22186971 MGI:2446239 RGD:1309623 615136 2.4.1.41 HGNC:30488 "ENST00000227756.5|NM_198516.3" +HGNC:21725 GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 GalNAc-T5L polypeptide GalNAc transferase-like 5 GALNT15 "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5" Polypeptide N-acetylgalactosaminyltransferases 433 2003-07-14 2004-07-28 2017-06-13 2019-04-25 168391 ENSG00000106648 OTTHUMG00000157306 uc064jlp.1 AF440400 NM_145292 CCDS5929 Q7Z4T8 MGI:1915159 RGD:1565271 615133 HGNC:21725 "ENST00000392800.7|NM_145292.4" +HGNC:33844 GALNTL6 polypeptide N-acetylgalactosaminyltransferase like 6 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 "GALNT17|GalNAc-T6L" polypeptide GalNAc transferase-like 6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 Polypeptide N-acetylgalactosaminyltransferases 433 2008-10-09 2017-06-13 2019-04-25 442117 ENSG00000174473 OTTHUMG00000160807 uc003isv.4 NM_001034845 CCDS34104 Q49A17 MGI:1913581 RGD:1564773 615138 HGNC:33844 "ENST00000506823.6|NM_001034845.3" +HGNC:54079 GALNTL6-AS1 GALNTL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 Antisense RNAs 1987 2018-09-28 2018-09-28 101928314 NR_125894 HGNC:54079 +HGNC:24840 GALP galanin like peptide protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Neuropeptides 1902 2007-08-24 2015-11-16 2016-10-05 85569 ENSG00000197487 OTTHUMG00000181826 uc002qmo.1 AF188493 NM_033106 "CCDS46202|CCDS12940" Q9UBC7 10601261 MGI:2663979 RGD:620187 611178 ligandId:3594 HGNC:24840 "ENST00000357330.7|NM_033106.4" +HGNC:4132 GALR1 galanin receptor 1 protein-coding gene gene with protein product Approved 18q23 18q23 "GALNR1|GALNR" Galanin receptors 226 1994-12-19 2014-11-19 2587 ENSG00000166573 OTTHUMG00000132875 uc002lms.5 U90658 NM_001480 CCDS12012 P47211 7524088 MGI:1096364 RGD:2656 600377 objectId:243 HGNC:4132 "ENST00000299727.5|NM_001480.4" +HGNC:4133 GALR2 galanin receptor 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 GALNR2 Galanin receptors 226 1998-12-17 2016-10-05 8811 ENSG00000182687 OTTHUMG00000167479 uc002jqm.3 AF040630 NM_003857 CCDS11739 O43603 "9685625|9832121" MGI:1337018 RGD:2657 603691 objectId:244 HGNC:4133 "ENST00000329003.4|NM_003857.4" +HGNC:4134 GALR3 galanin receptor 3 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Galanin receptors 226 1998-12-17 2016-10-05 8484 ENSG00000128310 OTTHUMG00000150658 uc003aub.1 AF073799 NM_003614 CCDS13958 O60755 "9722565|9832121" MGI:1329003 RGD:2658 603692 objectId:245 HGNC:4134 "ENST00000249041.3|NM_003614.2" +HGNC:4135 GALT galactose-1-phosphate uridylyltransferase protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Histidine triad superfamily 1811 2001-06-22 2016-10-05 2592 ENSG00000213930 OTTHUMG00000019836 uc003zve.5 M60091 NM_000155 "CCDS6565|CCDS59122" P07902 MGI:95638 RGD:1306483 Galactose-1-Phosphate Uridyl Transferase (GALT) Mutation Database|http://arup.utah.edu/database/GALT/GALT_welcome.php 606999 122009 2.7.7.12 HGNC:4135 "ENST00000378842.8|NM_000155.4" HGNC:4135 +HGNC:4136 GAMT guanidinoacetate N-methyltransferase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PIG2|TP53I2" 7BS small molecule methyltransferases 2063 1996-07-19 2021-05-26 2593 ENSG00000130005 OTTHUMG00000180095 uc002lsj.5 Z49878 NM_138924 "CCDS12064|CCDS45897" Q14353 "9570966|8547310" MGI:1098221 RGD:2659 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GAMT 601240 122011 HGNC:4136 "ENST00000252288.8|NM_000156.6" HGNC:4136 +HGNC:33982 GAMTP1 guanidinoacetate N-methyltransferase pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 GAMTP guanidinoacetate N-methyltransferase pseudogene 2008-01-31 2010-01-19 2010-01-19 2014-11-18 391491 NG_007653.2 PGOHUM00000240553 HGNC:33982 +HGNC:37697 GAMTP2 guanidinoacetate N-methyltransferase pseudogene 2 pseudogene pseudogene Approved 13q13.2 13q13.2 2010-01-19 2017-03-22 100129452 ENSG00000231910 OTTHUMG00000016719 NG_016563 PGOHUM00000291918 HGNC:37697 +HGNC:4137 GAN gigaxonin protein-coding gene gene with protein product Approved 16q23.2 16q23.2 "GAN1|KLHL16|GIG" kelch-like family member 16 giant axonal neuropathy (gigaxonin) "Kelch like|BTB domain containing" "617|861" 1998-09-14 2008-08-01 2021-04-13 8139 ENSG00000261609 OTTHUMG00000137627 uc002fgo.4 AF291673 NM_001377486 CCDS10935 Q9H2C0 "9450783|11062483" MGI:1890619 RGD:1307766 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_242|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_242.xml" 605379 122015 HGNC:4137 "ENST00000648994.2|NM_022041.4" HGNC:4137 +HGNC:4138 GANAB glucosidase II alpha subunit protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "GluII|G2AN|KIAA0088|GIIA" neutral alpha-glucosidase AB glucosidase, alpha; neutral AB Glycoside hydrolase family 31 1413 2001-06-22 2016-03-10 2016-03-10 23193 ENSG00000089597 OTTHUMG00000167696 uc001nub.5 AF144074 NM_198334 "CCDS8026|CCDS41656|CCDS60818|CCDS60817" Q14697 "6342981|3881423|10764838" MGI:1097667 RGD:1309775 104160 461381 3.2.1.84 HGNC:4138 "ENST00000356638.8|NM_198334.3" HGNC:4138 +HGNC:4139 GANC glucosidase alpha, neutral C protein-coding gene gene with protein product Approved 15q15.1 15q15.1 glucosidase, alpha; neutral C Glycoside hydrolase family 31 1413 2001-06-22 2016-03-30 2016-10-05 2595 ENSG00000214013 OTTHUMG00000130487 uc001zpi.4 AF545045 NM_198141 "CCDS76738|CCDS10084|CCDS76737" Q8TET4 "6995030|12370436" MGI:1923301 RGD:2660 104180 3.2.1.20 HGNC:4139 "ENST00000318010.13|NM_198141.3" +HGNC:4140 GAP43 growth associated protein 43 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "B-50|PP46|GAP-43" "neuron growth-associated protein 43|neuromodulin|nerve growth-related peptide GAP43|axonal membrane protein GAP-43|protein F1|calmodulin-binding protein P-57|neural phosphoprotein B-50" 1990-07-10 2020-03-06 2596 ENSG00000172020 OTTHUMG00000133758 uc003ebq.3 NM_002045 "CCDS33830|CCDS46890" P17677 "3272162|8231732" MGI:95639 RGD:62071 162060 470372 HGNC:4140 "ENST00000305124.11|NM_002045.4" +HGNC:4141 GAPDH glyceraldehyde-3-phosphate dehydrogenase protein-coding gene gene with protein product Approved 12p13.31 12p13.31 GAPD 2001-06-22 2005-05-06 2015-09-11 2597 ENSG00000111640 OTTHUMG00000137379 uc001qop.4 AF261085 NM_002046 "CCDS58201|CCDS8549" P04406 3170585 MGI:95640 RGD:2661 138400 1.2.1.12 HGNC:4141 "ENST00000229239.10|NM_002046.7" +HGNC:55492 GAPDH-DT GAPDH divergent transcript non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 Divergent transcripts 1990 2021-03-12 2021-03-12 112268089 ENSG00000255966 XR_002957397 +HGNC:4159 GAPDHP1 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 "GAPDP1|GAPDHL2|GAPDL2" glyceraldehyde-3-phosphate dehydrogenase-like 2 2001-06-22 2005-05-06 2014-11-19 2616 ENSG00000228232 OTTHUMG00000024098 M26873 NG_001123 6542494 PGOHUM00000241240 HGNC:4159 +HGNC:16577 GAPDHP2 glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 pseudogene pseudogene Approved 20p12.1 20p12.1 dJ585I14.1 GAPDP2 2001-09-17 2005-05-06 2014-11-19 170516 ENSG00000236811 OTTHUMG00000031903 AL121782 NG_001038 PGOHUM00000247595 HGNC:16577 +HGNC:4160 GAPDHP14 glyceraldehyde-3-phosphate dehydrogenase pseudogene 14 pseudogene pseudogene Approved 21q21.3 21q21.3 GAPDP14 2000-05-23 2005-05-06 2014-11-19 54050 ENSG00000236056 OTTHUMG00000078875 NG_009356 PGOHUM00000239160 HGNC:4160 +HGNC:13950 GAPDHP15 glyceraldehyde-3-phosphate dehydrogenase pseudogene 15 pseudogene pseudogene Approved 6p11.2 06p11.2 "GAPDH-Lp|b55C20.4" GAPDP15 2003-11-26 2005-05-06 2016-10-05 642317 ENSG00000214563 OTTHUMG00000014927 NG_006993 PGOHUM00000243220 HGNC:13950 +HGNC:23768 GAPDHP16 glyceraldehyde-3-phosphate dehydrogenase pseudogene 16 pseudogene pseudogene Approved 21q11.2 21q11.2 GAPDP16 2003-12-15 2005-05-06 2014-11-19 387491 ENSG00000225502 OTTHUMG00000074324 NG_009468 PGOHUM00000239147 HGNC:23768 +HGNC:37765 GAPDHP17 glyceraldehyde-3-phosphate dehydrogenase pseudogene 17 pseudogene pseudogene Approved Yq11.223 Yq11.223 GAPDHP18 glyceraldehyde 3 phosphate dehydrogenase pseudogene 18 2010-02-16 2016-10-05 360008 ENSG00000229551 OTTHUMG00000036538 NG_002925 12815422 PGOHUM00000234007 HGNC:37765 +HGNC:23947 GAPDHP19 glyceraldehyde 3 phosphate dehydrogenase pseudogene 19 pseudogene pseudogene Approved Yq11.222 Yq11.222 2010-02-17 2014-11-19 140028 ENSG00000234529 OTTHUMG00000036502 NG_002924 12815422 PGOHUM00000234001 HGNC:23947 +HGNC:37772 GAPDHP20 glyceraldehyde 3 phosphate dehydrogenase pseudogene 20 pseudogene pseudogene Approved 1p35.1 01p35.1 2010-02-24 2014-11-19 343338 ENSG00000224333 OTTHUMG00000007747 NG_009347 PGOHUM00000243961 HGNC:37772 +HGNC:37773 GAPDHP21 glyceraldehyde 3 phosphate dehydrogenase pseudogene 21 pseudogene pseudogene Approved 10q21.1 10q21.1 2010-02-24 2014-11-19 389970 ENSG00000236993 OTTHUMG00000018260 NG_009342 PGOHUM00000238494 HGNC:37773 +HGNC:37774 GAPDHP22 glyceraldehyde 3 phosphate dehydrogenase pseudogene 22 pseudogene pseudogene Approved 13q32.3 13q32.3 2010-02-24 2014-11-19 390421 ENSG00000234005 OTTHUMG00000017258 NG_011332 PGOHUM00000248477 HGNC:37774 +HGNC:37775 GAPDHP23 glyceraldehyde 3 phosphate dehydrogenase pseudogene 23 pseudogene pseudogene Approved 1p12 01p12 2010-02-24 2014-11-19 391075 ENSG00000235595 OTTHUMG00000012524 NG_009339 PGOHUM00000244166 HGNC:37775 +HGNC:37776 GAPDHP24 glyceraldehyde 3 phosphate dehydrogenase pseudogene 24 pseudogene pseudogene Approved 1q41 01q41 2010-02-24 2014-11-19 391162 ENSG00000185221 OTTHUMG00000037014 NG_009350 PGOHUM00000245205 HGNC:37776 +HGNC:37777 GAPDHP25 glyceraldehyde 3 phosphate dehydrogenase pseudogene 25 pseudogene pseudogene Approved 2p22.2 02p22.2 2010-02-24 2014-11-19 391367 ENSG00000213594 OTTHUMG00000152298 NG_006131 PGOHUM00000240624 HGNC:37777 +HGNC:37778 GAPDHP26 glyceraldehyde 3 phosphate dehydrogenase pseudogene 26 pseudogene pseudogene Approved 9q31.1 09q31.1 2010-02-24 2010-09-22 392374 ENSG00000229541 OTTHUMG00000020371 NG_009355 PGOHUM00000250531 HGNC:37778 +HGNC:37779 GAPDHP27 glyceraldehyde 3 phosphate dehydrogenase pseudogene 27 pseudogene pseudogene Approved 1p12 01p12 2010-02-24 2014-11-19 401960 ENSG00000239873 OTTHUMG00000012956 NG_009337 PGOHUM00000244169 HGNC:37779 +HGNC:37780 GAPDHP28 glyceraldehyde 3 phosphate dehydrogenase pseudogene 28 pseudogene pseudogene Approved 10q23.32 10q23.32 2010-02-24 2014-11-19 441572 ENSG00000213449 OTTHUMG00000018746 NG_009344 PGOHUM00000262850 HGNC:37780 +HGNC:37781 GAPDHP29 glyceraldehyde 3 phosphate dehydrogenase pseudogene 29 pseudogene pseudogene Approved 1p21.3 01p21.3 2010-02-24 2014-11-19 441893 ENSG00000178596 OTTHUMG00000010649 NG_009349 PGOHUM00000244801 HGNC:37781 +HGNC:37782 GAPDHP30 glyceraldehyde 3 phosphate dehydrogenase pseudogene 30 pseudogene pseudogene Approved 8q22.1 08q22.1 2010-02-24 2020-06-09 643228 ENSG00000183663 NG_009345 PGOHUM00000249437 HGNC:37782 +HGNC:37783 GAPDHP31 glyceraldehyde 3 phosphate dehydrogenase pseudogene 31 pseudogene pseudogene Approved 12p13.31 12p13.31 2010-02-24 2013-02-27 643739 ENSG00000235868 OTTHUMG00000160000 NG_009353 PGOHUM00000251011 HGNC:37783 +HGNC:37784 GAPDHP32 glyceraldehyde 3 phosphate dehydrogenase pseudogene 32 pseudogene pseudogene Approved 1p12 01p12 2010-02-24 2013-02-27 644213 ENSG00000226443 OTTHUMG00000012954 NG_011343 PGOHUM00000259471 HGNC:37784 +HGNC:37785 GAPDHP33 glyceraldehyde 3 phosphate dehydrogenase pseudogene 33 pseudogene pseudogene Approved 1p12 01p12 2010-02-24 2014-11-19 644237 ENSG00000240244 OTTHUMG00000012958 NG_009336 PGOHUM00000244170 HGNC:37785 +HGNC:37786 GAPDHP34 glyceraldehyde 3 phosphate dehydrogenase pseudogene 34 pseudogene pseudogene Approved 13q13.3 13q13.3 2010-02-24 2014-11-19 646877 ENSG00000235306 OTTHUMG00000016736 NG_011461 PGOHUM00000248567 HGNC:37786 +HGNC:37789 GAPDHP35 glyceraldehyde 3 phosphate dehydrogenase pseudogene 35 pseudogene pseudogene Approved 16p12.1 16p12.1 2010-02-24 2016-10-05 647001 ENSG00000250982 OTTHUMG00000160047 NG_009340 PGOHUM00000293483 HGNC:37789 +HGNC:37790 GAPDHP36 glyceraldehyde 3 phosphate dehydrogenase pseudogene 36 pseudogene pseudogene Approved 3q26.33 03q26.33 2010-02-24 2014-11-19 647249 ENSG00000213158 OTTHUMG00000157862 NG_016486 PGOHUM00000238277 HGNC:37790 +HGNC:37791 GAPDHP37 glyceraldehyde 3 phosphate dehydrogenase pseudogene 37 pseudogene pseudogene Approved 22q13.2 22q13.2 2010-02-24 2014-11-19 651258 ENSG00000231907 OTTHUMG00000151145 NG_006079 PGOHUM00000246336 HGNC:37791 +HGNC:37792 GAPDHP38 glyceraldehyde 3 phosphate dehydrogenase pseudogene 38 pseudogene pseudogene Approved 19q13.32 19q13.32 2010-02-24 2016-07-25 729493 ENSG00000249210 OTTHUMG00000160067 NG_009334 PGOHUM00000295394 HGNC:37792 +HGNC:37796 GAPDHP39 glyceraldehyde 3 phosphate dehydrogenase pseudogene 39 pseudogene pseudogene Approved 3q22.3 03q22.3 2010-02-24 2014-11-19 100128589 ENSG00000239207 OTTHUMG00000159890 NG_009351 PGOHUM00000238211 HGNC:37796 +HGNC:37797 GAPDHP40 glyceraldehyde 3 phosphate dehydrogenase pseudogene 40 pseudogene pseudogene Approved 5q33.3 05q33.3 2010-02-24 2014-11-18 100131743 ENSG00000248626 OTTHUMG00000159985 NG_009333 PGOHUM00000235443 HGNC:37797 +HGNC:37798 GAPDHP41 glyceraldehyde 3 phosphate dehydrogenase pseudogene 41 pseudogene pseudogene Approved 6q11.1 06q11.1 2010-02-24 2015-02-03 100131935 ENSG00000277172 OTTHUMG00000188334 NG_007298 PGOHUM00000301402 HGNC:37798 +HGNC:37799 GAPDHP42 glyceraldehyde 3 phosphate dehydrogenase pseudogene 42 pseudogene pseudogene Approved 6q13 06q13 2010-02-24 2014-11-19 100240707 ENSG00000219881 OTTHUMG00000014984 NG_009328 PGOHUM00000243663 HGNC:37799 +HGNC:37800 GAPDHP43 glyceraldehyde 3 phosphate dehydrogenase pseudogene 43 pseudogene pseudogene Approved 15q15.3 15q15.3 2010-02-24 2020-06-09 100240708 ENSG00000250130 NG_009331 PGOHUM00000247102 HGNC:37800 +HGNC:37801 GAPDHP44 glyceraldehyde 3 phosphate dehydrogenase pseudogene 44 pseudogene pseudogene Approved 12q14.2 12q14.2 2010-02-24 2014-11-19 100240709 ENSG00000213352 OTTHUMG00000160001 NG_009335 PGOHUM00000239823 HGNC:37801 +HGNC:37802 GAPDHP45 glyceraldehyde 3 phosphate dehydrogenase pseudogene 45 pseudogene pseudogene Approved 10p13 10p13 2010-02-24 2014-11-19 100240710 ENSG00000228312 OTTHUMG00000017726 NG_009343 PGOHUM00000238364 HGNC:37802 +HGNC:37804 GAPDHP46 glyceraldehyde 3 phosphate dehydrogenase pseudogene 46 pseudogene pseudogene Approved 1p22.1 01p22.1 2010-02-24 2014-11-19 100240711 ENSG00000224678 OTTHUMG00000010290 NG_009348 PGOHUM00000244099 HGNC:37804 +HGNC:37803 GAPDHP47 glyceraldehyde 3 phosphate dehydrogenase pseudogene 47 pseudogene pseudogene Approved 3q24 03q24 2010-02-24 2014-11-19 100240712 ENSG00000243033 OTTHUMG00000159382 NG_009352 PGOHUM00000237801 HGNC:37803 +HGNC:37805 GAPDHP48 glyceraldehyde 3 phosphate dehydrogenase pseudogene 48 pseudogene pseudogene Approved 2p25.3 02p25.3 2010-02-24 2014-11-18 100240713 ENSG00000232718 OTTHUMG00000151489 NG_009354 PGOHUM00000239967 HGNC:37805 +HGNC:38555 GAPDHP49 glyceraldehyde 3 phosphate dehydrogenase pseudogene 49 pseudogene pseudogene Approved 2q36.1 02q36.1 2010-06-17 2014-11-18 100421189 ENSG00000234285 OTTHUMG00000153391 NG_023664 PGOHUM00000240532 HGNC:38555 +HGNC:38556 GAPDHP50 glyceraldehyde 3 phosphate dehydrogenase pseudogene 50 pseudogene pseudogene Approved 3p11.1 03p11.1 2010-06-17 2014-11-19 100421236 ENSG00000241861 OTTHUMG00000159042 NG_025600 PGOHUM00000237675 HGNC:38556 +HGNC:38557 GAPDHP51 glyceraldehyde 3 phosphate dehydrogenase pseudogene 51 pseudogene pseudogene Approved 1p32.3 01p32.3 2010-06-17 2014-11-19 100421271 ENSG00000236973 OTTHUMG00000008961 NG_026939 PGOHUM00000244025 HGNC:38557 +HGNC:38558 GAPDHP52 glyceraldehyde 3 phosphate dehydrogenase pseudogene 52 pseudogene pseudogene Approved 13q12.11 13q12.11 2010-06-17 2014-11-19 100421313 ENSG00000235076 OTTHUMG00000016542 NG_024895 PGOHUM00000248521 HGNC:38558 +HGNC:38559 GAPDHP53 glyceraldehyde 3 phosphate dehydrogenase pseudogene 53 pseudogene pseudogene Approved 20p11.21 20p11.21 2010-06-17 2014-11-19 100421318 ENSG00000234069 OTTHUMG00000032100 NG_025000 PGOHUM00000247614 HGNC:38559 +HGNC:38560 GAPDHP54 glyceraldehyde 3 phosphate dehydrogenase pseudogene 54 pseudogene pseudogene Approved 20q13.12 20q13.12 2010-06-17 2014-11-19 100421319 ENSG00000226769 OTTHUMG00000032662 NG_025009 PGOHUM00000247666 HGNC:38560 +HGNC:38561 GAPDHP55 glyceraldehyde 3 phosphate dehydrogenase pseudogene 55 pseudogene pseudogene Approved 15q15.3 15q15.3 2010-06-17 2014-11-19 100421324 ENSG00000224055 OTTHUMG00000060474 NG_025379 PGOHUM00000247101 HGNC:38561 +HGNC:38562 GAPDHP56 glyceraldehyde 3 phosphate dehydrogenase pseudogene 56 pseudogene pseudogene Approved 4q28.3 04q28.3 2010-06-17 2014-11-18 100421232 ENSG00000249018 OTTHUMG00000159979 NG_025161 PGOHUM00000245696 HGNC:38562 +HGNC:38563 GAPDHP57 glyceraldehyde 3 phosphate dehydrogenase pseudogene 57 pseudogene pseudogene Approved 2p12 02p12 2010-06-17 2014-11-18 100421188 ENSG00000236167 OTTHUMG00000152942 NG_023572 PGOHUM00000240101 HGNC:38563 +HGNC:4142 GAPDHP58 glyceraldehyde 3 phosphate dehydrogenase pseudogene 58 pseudogene pseudogene Approved 1p12 01p12 "GAPDL1|GAPDHL1" "glyceraldehyde-3-phosphate dehydrogenase-like 1|glyceraldehyde-3-phosphate dehydrogenase-like 1, pseudogene" 2001-06-22 2010-10-14 2010-10-14 2014-11-19 391077 ENSG00000229570 OTTHUMG00000012527 NG_009338 2793178 PGOHUM00000244167 HGNC:4142 +HGNC:4152 GAPDHP59 glyceraldehyde-3-phosphate dehydrogenase pseudogene 59 pseudogene pseudogene Approved 2q32.1 02q32.1 "GAPDL3|GAPDHL3" "glyceraldehyde-3-phosphate dehydrogenase-like 3|glyceraldehyde-3-phosphate dehydrogenase-like 3, pseudogene" 2001-06-22 2010-10-14 2010-10-14 2014-11-19 645024 ENSG00000231739 OTTHUMG00000154269 NG_006132 2793178 PGOHUM00000241042 HGNC:4152 +HGNC:4153 GAPDHP60 glyceraldehyde-3-phosphate dehydrogenase pseudogene 60 pseudogene pseudogene Approved 4q22.1 04q22.1 "GAPDL4|GAPDHL4" "glyceraldehyde-3-phosphate dehydrogenase-like 4|glyceraldehyde-3-phosphate dehydrogenase-like 4, pseudogene" 2001-06-22 2010-10-14 2010-10-14 2014-11-19 2601 ENSG00000248180 OTTHUMG00000159978 NG_003011 2793178 PGOHUM00000245994 HGNC:4153 +HGNC:4155 GAPDHP61 glyceraldehyde 3 phosphate dehydrogenase pseudogene 61 pseudogene pseudogene Approved 15q22.31 15q22.31 "GAPDL6|GAPDHL6" "glyceraldehyde-3-phosphate dehydrogenase-like 6|glyceraldehyde-3-phosphate dehydrogenase-like 6, pseudogene" 1990-02-05 2010-10-14 2010-10-14 2014-11-19 729403 ENSG00000248415 OTTHUMG00000160045 NG_009327 2793178 PGOHUM00000246819 HGNC:4155 +HGNC:4156 GAPDHP62 glyceraldehyde 3 phosphate dehydrogenase pseudogene 62 pseudogene pseudogene Approved 8q22.3 08q22.3 "GAPDL7|GAPDHL7" "glyceraldehyde-3-phosphate dehydrogenase-like 7|glyceraldehyde-3-phosphate dehydrogenase-like 7, pseudogene" 2001-06-22 2010-10-14 2010-10-14 2014-11-19 100128961 ENSG00000251013 OTTHUMG00000159995 NG_009346 2793178 PGOHUM00000249457 HGNC:4156 +HGNC:4157 GAPDHP63 glyceraldehyde 3 phosphate dehydrogenase pseudogene 63 pseudogene pseudogene Approved 6q14.1 06q14.1 "GAPDL8|GAPDHL8" "glyceraldehyde-3-phosphate dehydrogenase-like 8|glyceraldehyde-3-phosphate dehydrogenase-like 8, pseudogene" 2001-06-22 2010-10-14 2010-10-14 2014-11-19 442231 ENSG00000218582 OTTHUMG00000015085 NG_006998 2793178 PGOHUM00000243261 HGNC:4157 +HGNC:4158 GAPDHP64 glyceraldehyde-3-phosphate dehydrogenase pseudogene 64 pseudogene pseudogene Approved 1p13.1 01p13.1 "GAPDL9|GAPDHL9" "glyceraldehyde-3-phosphate dehydrogenase-like 9|glyceraldehyde-3-phosphate dehydrogenase-like 9, pseudogene" 2001-06-22 2010-10-14 2010-10-14 2014-11-19 391069 ENSG00000231072 OTTHUMG00000022755 NG_006130 2793178 PGOHUM00000244156 HGNC:4158 +HGNC:4143 GAPDHP65 glyceraldehyde 3 phosphate dehydrogenase pseudogene 65 pseudogene pseudogene Approved Xp11.3 Xp11.3 "GAPDL10|GAPDHL10" "glyceraldehyde-3-phosphate dehydrogenase-like 10|glyceraldehyde-3-phosphate dehydrogenase-like 10, pseudogene" 1988-08-31 2010-10-14 2010-10-14 2014-11-18 389849 ENSG00000235587 OTTHUMG00000021418 NG_006129 2793178 PGOHUM00000241263 HGNC:4143 +HGNC:4144 GAPDHP66 glyceraldehyde-3-phosphate dehydrogenase pseudogene 66 pseudogene pseudogene Approved 18p11.31 18p11.31 "GAPDL11|GAPDHL11" "glyceraldehyde-3-phosphate dehydrogenase-like 11|glyceraldehyde-3-phosphate dehydrogenase-like 11, pseudogene" 2001-06-22 2010-10-14 2010-10-14 2014-11-19 645256 ENSG00000250933 OTTHUMG00000160055 NG_007000 2793178 PGOHUM00000234845 HGNC:4144 +HGNC:4145 GAPDHP67 glyceraldehyde 3 phosphate dehydrogenase pseudogene 67 pseudogene pseudogene Approved Xq26.3 Xq26.3 "GAPDL12|GAPDHL12" "glyceraldehyde-3-phosphate dehydrogenase-like 12|glyceraldehyde-3-phosphate dehydrogenase-like 12, pseudogene" 2001-06-22 2010-10-14 2010-10-14 2014-11-19 2609 ENSG00000219930 OTTHUMG00000022501 NG_006127 2793178 PGOHUM00000263344 HGNC:4145 +HGNC:4146 GAPDHP68 glyceraldehyde 3 phosphate dehydrogenase pseudogene 68 pseudogene pseudogene Approved 7p21.3 07p21.3 "GAPDL13|GAPDHL13" "glyceraldehyde-3-phosphate dehydrogenase-like 13|glyceraldehyde-3-phosphate dehydrogenase-like 13, pseudogene" 2001-06-22 2010-10-14 2010-10-14 2014-11-18 100132601 ENSG00000233876 OTTHUMG00000151930 NG_009341 2793178 PGOHUM00000233123 HGNC:4146 +HGNC:4147 GAPDHP69 glyceraldehyde 3 phosphate dehydrogenase pseudogene 69 pseudogene pseudogene Approved 13q12.3 13q12.3 "GAPDL14|GAPDHL14" "glyceraldehyde-3-phosphate dehydrogenase-like 14|glyceraldehyde-3-phosphate dehydrogenase-like 14, pseudogene" 1989-06-30 2010-10-14 2010-10-14 2014-11-18 2611 ENSG00000223460 OTTHUMG00000016654 NG_009332 2793178 PGOHUM00000248556 HGNC:4147 +HGNC:4148 GAPDHP70 glyceraldehyde 3 phosphate dehydrogenase pseudogene 70 pseudogene pseudogene Approved 11q14.2 11q14.2 "GAPDL15|GAPDHL15" "glyceraldehyde-3-phosphate dehydrogenase-like 15|glyceraldehyde-3-phosphate dehydrogenase-like 15, pseudogene" 1989-06-30 2010-10-14 2010-10-14 2014-11-19 642259 ENSG00000249489 OTTHUMG00000159997 NG_007004 2793178 PGOHUM00000242403 HGNC:4148 +HGNC:4149 GAPDHP71 glyceraldehyde-3-phosphate dehydrogenase pseudogene 71 pseudogene pseudogene Approved 5q35.2 05q35.2 "GAPDL16|GAPDHL16" "glyceraldehyde-3-phosphate dehydrogenase-like 16|glyceraldehyde-3-phosphate dehydrogenase-like 16, pseudogene" 2001-06-22 2010-10-14 2010-10-14 2014-11-19 2613 ENSG00000213376 OTTHUMG00000159984 NG_003027 PGOHUM00000235837 HGNC:4149 +HGNC:22955 GAPDHP72 glyceraldehyde-3-phosphate dehydrogenase pseudogene 72 pseudogene pseudogene Approved 6q27 06q27 "GAPDL18|GAPDHL18" "glyceraldehyde-3-phosphate dehydrogenase-like 18|glyceraldehyde-3-phosphate dehydrogenase-like 18, pseudogene" 2003-07-30 2010-10-14 2010-10-14 2014-11-18 346085 ENSG00000216624 OTTHUMG00000015992 NG_009329 PGOHUM00000243846 HGNC:22955 +HGNC:22956 GAPDHP73 glyceraldehyde-3-phosphate dehydrogenase pseudogene 73 pseudogene pseudogene Approved 6q23.3 06q23.3 "GAPDL19|GAPDHL19" "glyceraldehyde-3-phosphate dehydrogenase-like 19|glyceraldehyde-3-phosphate dehydrogenase-like 19, pseudogene" 2003-07-30 2010-10-14 2010-10-14 2014-11-18 442262 ENSG00000226540 OTTHUMG00000015633 NG_007007 PGOHUM00000243385 HGNC:22956 +HGNC:50647 GAPDHP74 glyceraldehyde-3-phosphate dehydrogenase pseudogene 74 pseudogene pseudogene Approved 1p12 01p12 2014-06-03 2014-06-03 391073 ENSG00000232780 OTTHUMG00000012523 NG_022738 PGOHUM00000244165 HGNC:50647 +HGNC:50648 GAPDHP75 glyceraldehyde-3-phosphate dehydrogenase pseudogene 75 pseudogene pseudogene Approved 1q31.1 01q31.1 2014-06-03 2014-06-03 100652918 ENSG00000226196 OTTHUMG00000035543 NG_032724 PGOHUM00000263033 HGNC:50648 +HGNC:50649 GAPDHP76 glyceraldehyde-3-phosphate dehydrogenase pseudogene 76 pseudogene pseudogene Approved 19p13.2 19p13.2 2014-06-03 2014-06-03 100287725 ENSG00000249840 OTTHUMG00000160071 NG_028151 PGOHUM00000263010 HGNC:50649 +HGNC:55049 GAPDHP77 GAPDH pseudogene 77 pseudogene pseudogene Approved Xq22.3 Xq22.3 2020-06-04 2020-06-04 118568801 ENSG00000215000 +HGNC:24864 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "GAPDH-2|GAPD2" GAPDS 2004-02-10 2005-05-06 2016-10-05 26330 ENSG00000105679 OTTHUMG00000182298 uc002oaf.2 AJ005371 NM_014364 CCDS12465 O14556 10714828 MGI:95653 RGD:620150 609169 HGNC:24864 "ENST00000222286.9|NM_014364.5" +HGNC:51308 GAPLINC gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 "TCONS_00026238|lncRNA-uc002kmd.1|RP11-838N2.4" gastric adenocarcinoma predictive long intergenic noncoding RNA LINC01540 long intergenic non-protein coding RNA 1540 Long non-coding RNAs with non-systematic symbols 1992 2014-09-26 2015-02-12 2015-02-12 2018-06-08 100505592 ENSG00000266835 OTTHUMG00000178331 "BM782281|AJ707365" NR_110429 "25277524|27729869|26974151" GAPLINC HGNC:51308 +HGNC:26588 GAPT GRB2 binding adaptor protein, transmembrane protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FLJ33641 GRB2-binding transmembrane adaptor C5orf29 chromosome 5 open reading frame 29 2006-08-11 2008-10-07 2016-09-08 2016-09-08 202309 ENSG00000175857 OTTHUMG00000131219 uc003jro.2 AK090960 NM_152687 CCDS3975 Q8N292 MGI:3608341 RGD:1586621 HGNC:26588 "ENST00000502276.6|NM_001304431.2" +HGNC:23375 GAPVD1 GTPase activating protein and VPS9 domains 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "DKFZP434C212|KIAA1521" VPS9 domain containing 928 2005-03-22 2016-10-05 26130 ENSG00000165219 OTTHUMG00000020678 uc004bps.4 NM_001282679 "CCDS65131|CCDS83413|CCDS83414|CCDS65132|CCDS65130|CCDS87689|CCDS35138" Q14C86 MGI:1913941 RGD:1307479 611714 HGNC:23375 "ENST00000297933.11|NM_001282680.3" HGNC:23375 +HGNC:14264 GAR1 GAR1 ribonucleoprotein protein-coding gene gene with protein product Approved 4q25 04q25 NOLA1 "nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)|GAR1 ribonucleoprotein homolog (yeast)" H/ACA ribonucleoprotein complex 1221 2001-02-06 2008-10-13 2016-02-17 2016-02-17 54433 ENSG00000109534 OTTHUMG00000161108 uc003hzu.4 AJ276003 NM_018983 CCDS34050 Q9NY12 10757788 MGI:1930948 RGD:1563995 606468 HGNC:14264 "ENST00000226796.7|NM_018983.4" +HGNC:55191 GAR1-DT GAR1 divergent transcript non-coding RNA RNA, long non-coding Approved 4q25 04q25 Divergent transcripts 1990 2020-08-13 2020-08-13 118568816 ENSG00000272795 +HGNC:26136 GAREM1 GRB2 associated regulator of MAPK1 subtype 1 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 FLJ21610 Grb2-associated and regulator of Erk/MAPK "C18orf11|FAM59A|GAREM" "chromosome 18 open reading frame 11|family with sequence similarity 59, member A|GRB2 associated, regulator of MAPK1" 2004-01-13 2015-11-06 2015-11-19 2015-11-19 64762 ENSG00000141441 OTTHUMG00000132273 uc002kxk.3 AK025263 NM_022751 "CCDS11905|CCDS56057" Q9H706 19509291 MGI:2685790 RGD:1591842 617998 HGNC:26136 "ENST00000269209.7|NM_001242409.2" +HGNC:27172 GAREM2 GRB2 associated regulator of MAPK1 subtype 2 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "KIAA2038|FLJ00375" "FAM59B|GAREML" "family with sequence similarity 59, member B|GRB2 associated, regulator of MAPK1-like" 2005-04-07 2015-11-06 2015-11-19 2015-11-19 150946 ENSG00000157833 OTTHUMG00000151935 uc002rgw.2 "AK090454|AB015349|AB124552" NM_001168241 "CCDS54336|CCDS54337" Q75VX8 24003223 MGI:2685290 RGD:1597138 617999 HGNC:27172 "ENST00000401533.7|NM_001168241.2" +HGNC:27998 GARIN1A golgi associated RAB2 interactor 1A protein-coding gene gene with protein product Approved 7q32.1 07q32.1 GARI Golgi-associated RAB2B interactor "FAM137B|FAM71F2" "family with sequence similarity 137, member B|family with sequence similarity 71 member F2" 2007-07-24 2021-11-25 2021-11-25 2022-01-10 346653 ENSG00000205085 OTTHUMG00000158275 uc003vnk.6 BC047310 NM_001012454 "CCDS47701|CCDS47702" Q6NXP2 34714330 MGI:2141439 RGD:1561814 HGNC:27998 "ENST00000682356.1|NM_001128926.4" +HGNC:30704 GARIN1B golgi associated RAB2 interactor 1B protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "NYD-SP18|GARI-L1" Golgi-associated RAB2B interactor like 1 "FAM137A|FAM71F1" "family with sequence similarity 137, member A|family with sequence similarity 71 member F1" 2007-07-24 2021-11-25 2021-11-25 2022-01-10 84691 ENSG00000135248 OTTHUMG00000158276 uc003vno.3 AF367470 NM_032599 "CCDS64763|CCDS5804" Q96KD3 34714330 MGI:3032524 RGD:1564147 HGNC:30704 +HGNC:20101 GARIN2 golgi associated RAB2 interactor family member 2 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 GARI-L2 "C14orf54|FAM71D" "chromosome 14 open reading frame 54|family with sequence similarity 71, member D|family with sequence similarity 71 member D" 2003-01-13 2021-11-25 2021-11-25 2022-01-07 161142 ENSG00000172717 OTTHUMG00000142819 uc001xja.2 NM_173526 CCDS9778 Q8N9W8 "29025071|18256213" MGI:1918147 RGD:1564393 HGNC:20101 +HGNC:28397 GARIN3 golgi associated RAB2B interactor family member 3 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "MGC26988|GARI-L3" FAM71B "family with sequence similarity 71, member B|family with sequence similarity 71 member B" 2005-05-31 2021-11-25 2021-11-25 2022-01-07 153745 ENSG00000170613 OTTHUMG00000130246 uc003lwn.4 NM_130899 CCDS4335 Q8TC56 "17103222|25609838|18256213" MGI:3650836 RGD:1563555 HGNC:28397 "ENST00000302938.4|NM_130899.3" +HGNC:49805 GARIN3P1 GARIN3 pseudogene 1 pseudogene pseudogene Approved 9p21.2 09p21.2 FAM71BP1 family with sequence similarity 71 member B pseudogene 1 2014-03-06 2022-01-14 2022-01-14 2022-01-14 100421478 ENSG00000270683 OTTHUMG00000184661 NG_023885 PGOHUM00000304136 HGNC:49805 +HGNC:26541 GARIN4 golgi associated RAB2 interactor family member 4 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "FLJ32796|GARI-L4" Golgi-associated Rab2B interactor-like 4 FAM71A "family with sequence similarity 71, member A|family with sequence similarity 71 member A" 2005-05-31 2021-11-25 2021-11-25 2022-01-10 149647 ENSG00000162771 OTTHUMG00000041084 uc001hjk.4 NM_153606 CCDS1507 Q8IYT1 26209634 MGI:3588202 RGD:1561646 HGNC:26541 "ENST00000294829.5|NM_153606.4" HGNC:26541 +HGNC:25107 GARIN5A golgi associated RAB2 interactor 5A protein-coding gene gene with protein product Approved 19q13.33 19q13.33 GARIL5 GARI like 5 FAM71E1 "family with sequence similarity 71, member E1|family with sequence similarity 71 member E1" 2007-11-20 2021-11-25 2021-11-25 2021-11-25 112703 ENSG00000142530 OTTHUMG00000183041 uc002psh.4 NM_001308429 "CCDS33081|CCDS77337" Q6IPT2 28930687 MGI:1922788 RGD:1311142 HGNC:25107 "ENST00000600100.6|NM_001308429.2" +HGNC:25278 GARIN5B golgi associated RAB2 interactor family member 5B protein-coding gene gene with protein product Approved 19q13.42 19q13.42 DKFZp434G1729 "C19orf16|FAM71E2" "chromosome 19 open reading frame 16|family with sequence similarity 71, member E2|family with sequence similarity 71 member E2" 2004-02-11 2021-11-25 2021-11-25 2021-11-25 284418 ENSG00000180043 OTTHUMG00000170357 uc002qkr.3 AL834316 NM_001145402 Q8N5Q1 MGI:3045311 RGD:1310169 HGNC:25278 "ENST00000424985.3|NM_001145402.2" +HGNC:28594 GARIN6 golgi associated RAB2 interactor family member 6 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 MGC39520 FAM71C "family with sequence similarity 71, member C|family with sequence similarity 71 member C" 2006-01-27 2021-11-25 2021-11-25 2021-11-25 196472 ENSG00000180219 OTTHUMG00000170311 uc001tgn.4 NM_153364 CCDS9072 Q8NEG0 12477932 HGNC:28594 "ENST00000324341.2|NM_153364.4" +HGNC:25425 GARNL3 GTPase activating Rap/RanGAP domain like 3 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "DKFZp761J1523|bA356B19.1" "GTPase activating RANGAP domain-like 3|GTPase activating Rap/RanGAP domain-like 3" 2004-02-24 2016-03-15 2016-10-05 84253 ENSG00000136895 OTTHUMG00000020700 uc011mae.3 BC034983 NM_032293 "CCDS69663|CCDS6869" Q5VVW2 11230166 MGI:2139309 RGD:1564019 HGNC:25425 "ENST00000373387.9|NM_032293.5" +HGNC:29016 GARRE1 granule associated Rac and RHOG effector 1 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 KIAA0355 KIAA0355 2004-02-09 2020-03-03 2020-03-04 2020-03-04 9710 ENSG00000166398 OTTHUMG00000180505 uc002nvd.5 NM_014686 CCDS12436 O15063 "9205841|29395067|31871319" MGI:1924311 RGD:1308428 619335 HGNC:29016 "ENST00000299505.8|NM_014686.5" +HGNC:4162 GARS1 glycyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "GlyRS|DSMAV|SMAD1" glycine tRNA ligase "CMT2D|GARS" "Charcot-Marie-Tooth neuropathy 2D|glycyl-tRNA synthetase" Aminoacyl tRNA synthetases, Class II 132 1995-03-21 2019-07-15 2019-07-15 2021-05-26 2617 ENSG00000106105 OTTHUMG00000152769 uc003tbm.4 AK074524 NM_002047 CCDS43564 P41250 "8595897|8872480" MGI:2449057 RGD:1307856 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_243|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_243.xml" 600287 122022 6.1.1.14 HGNC:4162 "ENST00000389266.8|NM_002047.4" HGNC:4162 +HGNC:48951 GARS1-DT GARS1 divergent transcript non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 "AC005154.6|AC005154.1" GARS-DT GARS divergent transcript Divergent transcripts 1990 2018-07-04 2019-12-13 2019-12-13 2019-12-13 401320 ENSG00000196295 OTTHUMG00000152788 NR_038889 29953524 HGNC:48951 +HGNC:50480 GARS1P1 glycyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 17q22 17q22 GARSP1 glycyl-tRNA synthetase pseudogene 1 2014-05-06 2019-07-15 2019-07-15 2019-07-15 100419764 ENSG00000262135 OTTHUMG00000177857 NG_026193 PGOHUM00000237112 HGNC:50480 +HGNC:4163 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase protein-coding gene gene with protein product Approved 21q22.11 21q22.11 GARS-AIRS-GART "GAR transformylase|glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase|Glycinamide ribonucleotide formyltransferase|Trifunctional purine biosynthetic protein adenosine-3" "PRGS|PGFT" Purinosome 1569 2001-06-22 2017-11-24 2618 ENSG00000159131 OTTHUMG00000065628 uc002yry.4 M32082 NM_000819 "CCDS13628|CCDS13627" P22102 2050105 MGI:95654 RGD:1308717 138440 objectId:2612 "2.1.2.2|6.3.3.1|6.3.4.13" HGNC:4163 "ENST00000381815.9|NM_000819.5" +HGNC:4165 GAS1 growth arrest specific 1 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 Growth arrest-specific gene-1 1993-06-23 2015-11-23 2016-10-05 2619 ENSG00000180447 OTTHUMG00000020141 uc004aox.5 NM_002048 CCDS6674 P54826 8307588 MGI:95655 RGD:1586820 139185 285758 HGNC:4165 "ENST00000298743.9|NM_002048.3" +HGNC:52261 GAS1RR GAS1 adjacent regulatory RNA non-coding RNA RNA, long non-coding Approved 9q21.33 09q21.33 LncRNA-Hh Long non-coding RNAs with non-systematic symbols 1992 2015-11-05 2015-11-05 100506834 ENSG00000226237 OTTHUMG00000020143 NR_049794 26418365 GAS1RR HGNC:52261 +HGNC:4167 GAS2 growth arrest specific 2 protein-coding gene gene with protein product Approved 11p14.3 11p14.3 1997-08-28 2015-11-23 2015-11-23 2620 ENSG00000148935 OTTHUMG00000166071 uc009yie.4 BC040470 NM_177553 CCDS7858 O43903 9521882 MGI:95657 RGD:1563167 602835 HGNC:4167 "ENST00000454584.7|NM_001143830.3" +HGNC:16955 GAS2L1 growth arrest specific 2 like 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 GAR22 2002-04-30 2015-11-23 2015-11-23 10634 ENSG00000185340 OTTHUMG00000151108 uc032qlb.2 BC001782 NM_006478 "CCDS74840|CCDS63438" Q99501 "8975699|12584248|1607387" MGI:1926176 RGD:1311206 602128 HGNC:16955 +HGNC:50293 GAS2L1P1 growth arrest specific 2 like 1 pseudogene 1 pseudogene pseudogene Approved 9p13.1 09p13.1 2014-04-02 2015-11-23 2015-11-23 101927222 ENSG00000229511 OTTHUMG00000019942 PGOHUM00000236035 HGNC:50293 +HGNC:27986 GAS2L1P2 growth arrest specific 2 like 1 pseudogene 2 pseudogene pseudogene Approved 9q22.33 09q22.33 2014-04-02 2015-11-23 2015-11-23 340508 ENSG00000228376 OTTHUMG00000020312 NR_002942 12477932 PGOHUM00000304001 HGNC:27986 +HGNC:24846 GAS2L2 growth arrest specific 2 like 2 protein-coding gene gene with protein product Approved 17q12 17q12 GAR17 2004-06-28 2015-11-23 2016-10-05 246176 ENSG00000270765 OTTHUMG00000188386 uc002hjv.2 AF508784 NM_139285 CCDS11298 Q8NHY3 12584248 MGI:3652048 RGD:1307868 611398 HGNC:24846 "ENST00000604641.6|NM_139285.4" HGNC:24846 +HGNC:27475 GAS2L3 growth arrest specific 2 like 3 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 2004-06-28 2015-11-23 2015-11-23 283431 ENSG00000139354 OTTHUMG00000170439 uc001thu.4 AK095594 NM_174942 "CCDS9079|CCDS76590" Q86XJ1 MGI:1918780 RGD:1594151 617224 HGNC:27475 "ENST00000547754.6|NM_174942.3" +HGNC:16355 GAS5 growth arrest specific 5 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 "SNHG2|NCRNA00030" "small nucleolar RNA host gene (non-protein coding) 2|non-protein coding RNA 30" growth arrest specific 5 (non-protein coding) "Small nucleolar RNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1839|1992" 2001-08-02 2018-05-16 2018-05-16 60674 ENSG00000234741 OTTHUMG00000037216 uc057nkb.1 BC038733 NR_002578 "9819378|23726844" MGI:95659 RGD:621549 608280 GAS5 GAS5 HGNC:16355 +HGNC:44119 GAS5-AS1 GAS5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 GAS5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2017-12-20 100506046 ENSG00000270084 OTTHUMG00000184089 uc021pfa.1 AF088026 NR_037605 29249416 GAS5-AS1 HGNC:44119 +HGNC:4168 GAS6 growth arrest specific 6 protein-coding gene gene with protein product Approved 13q34 13q34 "AXSF|FLJ34709|DKFZp666G247" AXL stimulatory factor AXLLG AXL receptor tyrosine kinase ligand Gla domain containing 1250 1994-12-19 2015-11-23 2015-11-23 2621 ENSG00000183087 OTTHUMG00000017395 uc001vud.4 NM_000820 CCDS45072 Q14393 8336730 MGI:95660 RGD:61913 600441 ligandId:4935 HGNC:4168 "ENST00000327773.7|NM_000820.4" +HGNC:39826 GAS6-AS1 GAS6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 GAS6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-30 2012-08-15 2014-11-18 650669 ENSG00000233695 OTTHUMG00000017396 uc031qno.3 NR_044995 23979857 GAS6-AS1 HGNC:39826 +HGNC:43694 GAS6-DT GAS6 divergent transcript non-coding RNA RNA, long non-coding Approved 13q34 13q34 FLJ44054 GAS6-AS2 GAS6 antisense RNA 2 (head to head) Divergent transcripts 1990 2012-09-10 2018-03-22 2018-03-22 2019-07-12 100506394 ENSG00000272695 OTTHUMG00000186446 uc021rmw.2 AK126042 NR_044993 31162889 GAS6-AS2 HGNC:43694 +HGNC:4169 GAS7 growth arrest specific 7 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "KIAA0394|MGC1348" F-BAR domain containing 1288 1998-10-19 2015-11-23 2020-04-01 8522 ENSG00000007237 OTTHUMG00000177945 uc002gmg.2 AB007854 "NM_003644|NM_201432|NM_201433" "CCDS45611|CCDS42263|CCDS58518|CCDS11152" O60861 9736752 MGI:1202388 RGD:621550 GAS7 603127 HGNC:4169 "ENST00000432992.7|NM_201433.2" +HGNC:4166 GAS8 growth arrest specific 8 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 DRC4 GAS11 growth arrest-specific 11 Dynein regulatory complex 981 1998-03-23 2003-01-17 2015-11-23 2015-11-23 2622 ENSG00000141013 OTTHUMG00000138988 uc002fqi.1 AF050079 NM_001286205 "CCDS67101|CCDS10992|CCDS73932" O95995 9790751 MGI:1202386 RGD:1307817 605178 442934 HGNC:4166 "ENST00000268699.9|NM_001481.3" HGNC:4166 +HGNC:1197 GAS8-AS1 GAS8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 C16orf3 chromosome 16 open reading frame 3 Antisense RNAs 1987 1998-08-06 2014-10-01 2014-10-01 2017-08-09 750 ENSG00000221819 OTTHUMG00000172804 AF050080 NR_122031 O95177 "9790751|26941397|28781594" 605179 463825 GAS8-AS1 HGNC:1197 +HGNC:53461 GASAL1 growth arrest associated lncRNA 1 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 GASL1 growth-arrest associated lncRNA 1 Long non-coding RNAs with non-systematic symbols 1992 2017-07-27 2018-08-17 401472 ENSG00000253669 OTTHUMG00000164736 NR_149020 28423601 HGNC:53461 +HGNC:24485 GASK1A golgi associated kinase 1A protein-coding gene gene with protein product Approved 3p22.1 03p22.1 DKFZP434B172 "C3orf41|FAM198A" "chromosome 3 open reading frame 41|family with sequence similarity 198, member A|family with sequence similarity 198 member A" Golgi associated kinase family 1637 2006-01-08 2018-10-18 2018-10-18 2018-10-18 729085 ENSG00000144649 OTTHUMG00000156449 uc003cmp.6 AL117530 NM_001129908 CCDS46808 Q9UFP1 MGI:3041196 RGD:1305157 HGNC:24485 "ENST00000430121.3|NM_001129908.3" +HGNC:25312 GASK1B golgi associated kinase 1B protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "FLJ38155|DKFZp434L142|ENED" Expressed in Nerve and Epithelium during Development "C4orf18|FAM198B" "chromosome 4 open reading frame 18|family with sequence similarity 198, member B|family with sequence similarity 198 member B" Golgi associated kinase family 1637 2006-02-13 2018-10-18 2018-10-18 2018-10-18 51313 ENSG00000164125 OTTHUMG00000161537 uc003ipr.5 "NM_001031700|NM_016613" "CCDS34087|CCDS3798" Q6UWH4 12975309 MGI:1915909 RGD:735075 HGNC:25312 "ENST00000585682.6|NM_001128424.2" +HGNC:53132 GASK1B-AS1 GASK1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q32.1 04q32.1 FAM198B-AS1 FAM198B antisense RNA 1 Antisense RNAs 1987 2017-08-03 2021-03-01 2021-03-01 2021-03-01 285505 ENSG00000248429 OTTHUMG00000161654 NR_147407 27941916 HGNC:53132 +HGNC:4164 GAST gastrin protein-coding gene gene with protein product Approved 17q21.2 17q21.2 preprogastrin GAS Neuropeptides 1902 2001-06-22 2005-06-14 2005-06-14 2015-08-25 2520 ENSG00000184502 OTTHUMG00000133496 uc002hxl.3 NM_000805 CCDS11404 P01350 MGI:104768 RGD:2662 137250 ligandId:3566 HGNC:4164 "ENST00000329402.4|NM_000805.5" +HGNC:4170 GATA1 GATA binding protein 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "ERYF1|NFE1|GATA-1|NF-E1" nuclear factor, erythroid 1 GF1 "GATA-binding protein 1 (globin transcription factor 1)|globin transcription factor 1" GATA zinc finger domain containing 82 1990-09-10 2016-02-15 2021-05-26 2623 ENSG00000102145 OTTHUMG00000021504 uc004dkq.5 X17254 NM_002049 CCDS14305 P15976 1999341 MGI:95661 RGD:2663 LRG_559|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_559.xml GATA1 305371 122028 HGNC:4170 "ENST00000376670.9|NM_002049.4" HGNC:4170 +HGNC:4171 GATA2 GATA binding protein 2 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 NFE1B GATA-binding protein 2 GATA zinc finger domain containing 82 1992-11-03 2001-11-28 2021-05-26 2624 ENSG00000179348 OTTHUMG00000159689 uc003eko.3 AF169253 NM_032638 "CCDS46903|CCDS3049" P23769 1714909 MGI:95662 RGD:2664 LRG_295|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_295.xml GATA2 137295 274222 HGNC:4171 "ENST00000341105.7|NM_032638.5" HGNC:4171 +HGNC:51108 GATA2-AS1 GATA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 Antisense RNAs 1987 2014-07-29 2014-07-29 101927167 ENSG00000244300 OTTHUMG00000159693 NR_125398 GATA2-AS1 HGNC:51108 +HGNC:4172 GATA3 GATA binding protein 3 protein-coding gene gene with protein product Approved 10p14 10p14 HDR GATA-binding protein 3 GATA zinc finger domain containing 82 1992-11-03 2001-11-28 2021-05-26 2625 ENSG00000107485 OTTHUMG00000017640 uc001ika.4 X55122 NM_001002295 "CCDS7083|CCDS31143" P23771 "2050118|15087456" MGI:95663 RGD:621250 GATA3 131320 122033 HGNC:4172 "ENST00000379328.9|NM_001002295.2" HGNC:4172 +HGNC:33786 GATA3-AS1 GATA3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Antisense RNAs 1987 2012-12-04 2019-08-08 399717 ENSG00000197308 OTTHUMG00000156966 uc001ijx.1 "BC036297|AK128810" NR_104327 "23870669|30420860" gata3-as1 GATA3-AS1 HGNC:33786 +HGNC:4173 GATA4 GATA binding protein 4 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 GATA-binding protein 4 GATA zinc finger domain containing 82 1994-11-30 2001-11-28 2021-05-26 2626 ENSG00000136574 OTTHUMG00000090800 uc003wuc.3 AK097060 NM_002052 "CCDS78304|CCDS78303|CCDS5983" P43694 7665171 MGI:95664 RGD:2665 600576 122035 HGNC:4173 "ENST00000532059.6|NM_001308093.3" HGNC:4173 +HGNC:15802 GATA5 GATA binding protein 5 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "bB379O24.1|GATAS" GATA-binding protein 5 GATA zinc finger domain containing 82 2001-09-17 2001-11-28 2021-05-26 140628 ENSG00000130700 OTTHUMG00000032919 uc002ycx.1 "BC047790|BC117356" NM_080473 CCDS13499 Q9BWX5 9566909 MGI:109497 RGD:1561365 611496 304191 HGNC:15802 "ENST00000252997.3|NM_080473.5" HGNC:15802 +HGNC:4174 GATA6 GATA binding protein 6 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 GATA-binding protein 6 GATA zinc finger domain containing 82 1996-10-11 2001-11-28 2021-05-26 2627 ENSG00000141448 OTTHUMG00000131767 uc002ktt.2 U66075 NM_005257 CCDS11872 Q92908 8975704 MGI:107516 RGD:2666 601656 291853 HGNC:4174 "ENST00000269216.10|NM_005257.6" HGNC:4174 +HGNC:48840 GATA6-AS1 GATA6 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 "locus5689|BM742401" locus 5689 Antisense RNAs 1987 2013-06-14 2017-07-14 100128893 ENSG00000266010 OTTHUMG00000179440 BM742401 NR_102763 "23846333|23382218|27689399" GATA6-AS1 HGNC:48840 +HGNC:29941 GATAD1 GATA zinc finger domain containing 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "ODAG|RG083M05.2|FLJ22489" ocular development associated gene "GATA zinc finger domain containing|EMSY complex" "82|1243" 2005-03-31 2021-04-13 57798 ENSG00000157259 OTTHUMG00000131201 uc003ulx.3 NM_021167 CCDS5625 Q8WUU5 12062807 MGI:1914460 RGD:1562004 LRG_746|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_746.xml 614518 304455 HGNC:29941 "ENST00000287957.5|NM_021167.5" HGNC:29941 +HGNC:29989 GATAD2A GATA zinc finger domain containing 2A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 p66alpha p66 alpha "GATA zinc finger domain containing|MicroRNA protein coding host genes" "82|1691" 2005-03-31 2014-11-19 54815 ENSG00000167491 OTTHUMG00000152541 uc010xqt.3 AL390164 NM_017660 "CCDS12402|CCDS77270" Q86YP4 12183469 MGI:2384585 RGD:1310596 614997 HGNC:29989 "ENST00000683918.1|NM_001384528.1" +HGNC:30778 GATAD2B GATA zinc finger domain containing 2B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 P66beta transcription repressor p66 beta component of the MeCP1 complex GATA zinc finger domain containing 82 2005-03-31 2014-11-19 57459 ENSG00000143614 OTTHUMG00000037162 uc001fdb.5 AF411836 NM_020699 CCDS1054 Q8WXI9 "10574461|11756549" MGI:2443225 RGD:1308533 614998 318860 HGNC:30778 "ENST00000368655.5|NM_020699.4" HGNC:30778 +HGNC:8849 GATB glutamyl-tRNA amidotransferase subunit B protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "PET112L|PET112" "PET112 (yeast homolog)-like|glutamyl-tRNA(Gln) amidotransferase, subunit B" Glutamyl-tRNA amidotransferase subunits 1663 1998-07-03 2014-08-04 2016-06-21 2016-06-21 5188 ENSG00000059691 OTTHUMG00000161672 AF026851 NM_001363341 CCDS3776 O75879 "9878253|19805282" MGI:2442496 RGD:1307864 603645 HGNC:8849 "ENST00000263985.11|NM_004564.3" +HGNC:25068 GATC glutamyl-tRNA amidotransferase subunit C protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ37000|15E1.2" glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) Glutamyl-tRNA amidotransferase subunits 1663 2007-11-26 2016-06-21 2020-05-04 283459 ENSG00000257218 OTTHUMG00000047788 uc010szi.3 AK094319 NM_176818 CCDS31911 O43716 19805282 MGI:1923776 RGD:1309698 617210 HGNC:25068 "ENST00000551765.6|NM_176818.3" +HGNC:26616 GATD1 glutamine amidotransferase class 1 domain containing 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 FLJ34283 PDDC1 "Parkinson disease 7 domain containing 1|glutamine amidotransferase like class 1 domain containing 1" Glutamine amidotransferase class 1 domain containing 1408 2005-10-26 2017-03-16 2021-04-12 2021-04-12 347862 ENSG00000177225 OTTHUMG00000133315 uc001lrc.4 AK128653 NM_182612 "CCDS81530|CCDS7713" Q8NB37 MGI:2387178 RGD:1304836 C56.974 HGNC:26616 "ENST00000319863.13|NM_182612.4" +HGNC:29907 GATD1-DT GATD1 divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Divergent transcripts 1990 2021-12-13 2021-12-13 171391 ENSG00000255284 NR_126342 +HGNC:1273 GATD3 glutamine amidotransferase class 1 domain containing 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KNP-Ia|GT335|ES1|HES1|D21S2048E|KNPI|KNPH|KNP-I" ES1 protein homolog "C21orf33|GATD3A" "chromosome 21 open reading frame 33|glutamine amidotransferase like class 1 domain containing 3A|glutamine amidotransferase class 1 domain containing 3A" Glutamine amidotransferase class 1 domain containing 1408 2000-05-23 2021-06-18 2021-06-18 2021-06-18 8209 ENSG00000160221 OTTHUMG00000086916 uc002zec.5 Y07572 NM_004649 "CCDS33580|CCDS33581|CCDS82680" P0DPI2 "9150728|8975701|15707356|26926452" MGI:1351861 RGD:1303003 601659 470444 HGNC:1273 "ENST00000291577.11|NM_004649.8" +HGNC:4175 GATM glycine amidinotransferase protein-coding gene gene with protein product Approved 15q21.1 15q21.1 AGAT L-arginine:glycine amidinotransferase 1998-02-20 2016-01-15 2020-04-02 2628 ENSG00000171766 OTTHUMG00000131427 uc001zvc.4 S68805 NM_001482 CCDS10122 P50440 8313955 MGI:1914342 RGD:71090 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GATM 602360 122037 objectId:1246 2.1.4.1 HGNC:4175 "ENST00000396659.8|NM_001482.3" HGNC:4175 +HGNC:53880 GAU1 GALNT8 antisense upstream 1 non-coding RNA RNA, long non-coding Approved 12p13.32 12p13.32 GALNT8-DT GALNT8 divergent transcript Long non-coding RNAs with non-systematic symbols 1992 2018-05-17 2018-05-17 101929549 ENSG00000255474 NR_110112 29741668 HGNC:53880 +HGNC:4177 GBA glucosylceramidase beta protein-coding gene gene with protein product Approved 1q22 01q22 GBA1 glucocerebrosidase GLUC "glucosylceramidase|glucosidase, beta; acid (includes glucosylceramidase)|glucosidase, beta, acid" Glycoside hydrolases 1650 1986-01-01 2016-03-15 2021-07-29 2629 ENSG00000177628 OTTHUMG00000035841 uc001fjk.4 M19285 NM_000157 "CCDS1102|CCDS53373|CCDS53374" P04062 3359914 MGI:95665 RGD:1589149 606463 122039 objectId:2978 3.2.1.45 HGNC:4177 "ENST00000368373.8|NM_000157.4" HGNC:4177 +HGNC:18986 GBA2 glucosylceramidase beta 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "KIAA1605|AD035|DKFZp762K054" "bile acid beta-glucosidase|non-lysosomal glucosylceramidase|glucocerebrosidase 2" SPG46 "spastic paraplegia 46 (autosomal recessive)|glucosidase, beta (bile acid) 2" Glycoside hydrolases 1650 2002-07-25 2016-03-15 2021-07-26 57704 ENSG00000070610 OTTHUMG00000021024 uc003zxw.3 AJ309567 NM_020944 "CCDS6589|CCDS83363" Q9HCG7 "11489889|23332916|23332917" MGI:2654325 RGD:1305598 609471 328666 3.2.1.45 HGNC:18986 "ENST00000378103.7|NM_020944.3" HGNC:18986 +HGNC:19069 GBA3 glucosylceramidase beta 3 (gene/pseudogene) protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "GLUC|KLrP|CBGL1" "klotho-related protein|cytosolic β-glucosidase-like protein-1" "glucosidase, beta, acid 3 (cytosolic)|glucosidase, beta, acid 3 (gene/pseudogene)" Glycoside hydrolase family 1 1652 2002-12-16 2016-03-15 2021-07-26 57733 ENSG00000249948 OTTHUMG00000160448 uc031sdv.2 AB017913 NM_001128432 Q9H227 "11389701|17595169" RGD:1309539 606619 3.2.1.21 HGNC:19069 +HGNC:4178 GBAP1 glucosylceramidase beta pseudogene 1 pseudogene pseudogene Approved 1q22 01q22 GBAP "glucosidase, beta; acid, pseudogene|glucosidase, beta, acid pseudogene 1" 1989-05-11 2010-01-19 2016-03-15 2016-03-15 2630 ENSG00000160766 OTTHUMG00000176393 J03060 NR_002188.2 HGNC:4178 +HGNC:4180 GBE1 1,4-alpha-glucan branching enzyme 1 protein-coding gene gene with protein product Approved 3p12.2 03p12.2 "glycogen branching enzyme|Andersen disease|glycogen storage disease type IV" glucan (1,4-alpha-), branching enzyme 1 1993-06-21 2016-08-10 2021-05-26 2632 ENSG00000114480 OTTHUMG00000158978 uc062lqz.1 NM_000158 CCDS54612 Q04446 8463281 MGI:1921435 RGD:1309968 607839 122043 2.4.1.18 HGNC:4180 "ENST00000429644.7|NM_000158.4" HGNC:4180 +HGNC:4181 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "KIAA0248|ARF1GEF" golgi-specific brefeldin A resistance factor 1 Sec7 family 1945 1999-01-14 2010-02-12 2016-10-05 8729 ENSG00000107862 OTTHUMG00000018955 uc001kux.3 D87435 NM_001199378 CCDS7533 Q92538 9828135 MGI:1861607 RGD:1307160 603698 HGNC:4181 "ENST00000369983.5|NM_001377137.1" HGNC:4181 +HGNC:20460 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "UDP-GalNAc|A3GALNT|MGC44848|FS" "Forssman glycolipid synthetase (FS)|Forssman synthetase|Forssman blood group" "Glycosyltransferase family 6|Blood group antigens" "429|454" 2004-05-17 2017-03-16 2021-04-13 26301 ENSG00000148288 OTTHUMG00000020853 uc004ccw.5 AY358175 NM_021996 "CCDS65175|CCDS65176|CCDS6960" Q8N5D6 "10506200|8855242" MGI:2449143 RGD:1591938 LRG_826|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_826.xml 606074 HGNC:20460 "ENST00000372040.9|NM_021996.6" +HGNC:4182 GBP1 guanylate binding protein 1 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "guanylate binding protein 1, interferon-inducible, 67kDa|guanylate binding protein 1, interferon-inducible" Guanylate binding proteins 1825 1995-01-03 2016-01-21 2016-01-21 2633 ENSG00000117228 OTTHUMG00000010614 uc001dmx.3 BC002666 NM_002053 CCDS718 P32455 7518790 MGI:102772 RGD:1311877 600411 HGNC:4182 "ENST00000370473.5|NM_002053.3" +HGNC:39561 GBP1P1 guanylate binding protein 1 pseudogene 1 pseudogene pseudogene Approved 1p22.2 01p22.2 guanylate binding protein 1, interferon-inducible pseudogene 1 2011-03-09 2016-01-21 2016-01-21 400759 ENSG00000225492 OTTHUMG00000010128 NR_003133 PGOHUM00000244789 HGNC:39561 +HGNC:4183 GBP2 guanylate binding protein 2 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 guanylate binding protein 2, interferon-inducible Guanylate binding proteins 1825 1995-01-30 2016-01-21 2016-01-21 2634 ENSG00000162645 OTTHUMG00000010662 uc001dmz.3 BC073163 NM_004120 CCDS719 P32456 1715024 "MGI:95666|MGI:102772" RGD:621810 600412 HGNC:4183 "ENST00000370466.4|NM_004120.5" +HGNC:4184 GBP3 guanylate binding protein 3 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 FLJ10961 Guanylate binding proteins 1825 1995-01-30 2015-09-10 2635 ENSG00000117226 OTTHUMG00000010616 uc001dmt.4 BC063819 NM_018284 CCDS717 Q9H0R5 7518790 MGI:102772 RGD:1597766 600413 HGNC:4184 "ENST00000370481.9|NM_018284.3" +HGNC:20480 GBP4 guanylate binding protein 4 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 Mpa2 Guanylate binding proteins 1825 2003-11-21 2015-09-10 115361 ENSG00000162654 OTTHUMG00000010663 uc001dnb.4 AF288814 NM_052941 CCDS721 Q96PP9 16689661 MGI:1926263 612466 HGNC:20480 "ENST00000355754.7|NM_052941.5" +HGNC:19895 GBP5 guanylate binding protein 5 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 Guanylate binding proteins 1825 2003-11-21 2015-09-10 115362 ENSG00000154451 OTTHUMG00000010006 uc057iek.1 AF430642 NM_052942 CCDS722 Q96PP8 MGI:2429943 RGD:1311040 611467 HGNC:19895 "ENST00000370459.8|NM_052942.5" +HGNC:25395 GBP6 guanylate binding protein family member 6 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 DKFZp686G0786 guanylate binding protein family, member 6 Guanylate binding proteins 1825 2004-12-03 2015-11-18 2016-10-05 163351 ENSG00000183347 OTTHUMG00000010123 uc001dnf.3 BX537949 NM_198460 CCDS723 Q6ZN66 "MGI:97072|MGI:1923324|MGI:2140937|MGI:3605620|MGI:3646307|MGI:4359647" RGD:1561523 612467 HGNC:25395 "ENST00000370456.5|NM_198460.3" +HGNC:29606 GBP7 guanylate binding protein 7 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "FLJ38822|GBP4L" Guanylate binding proteins 1825 2005-05-19 2015-09-10 388646 ENSG00000213512 OTTHUMG00000010659 uc001dna.2 AK096141 NM_207398 CCDS720 Q8N8V2 "MGI:1926263|MGI:2444421" RGD:1310579 612468 HGNC:29606 "ENST00000294671.3|NM_207398.3" +HGNC:4185 GBX1 gastrulation brain homeobox 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 gastrulation brain homeo box 1 HOXL subclass homeoboxes 518 1997-10-30 2005-12-22 2015-08-27 2636 ENSG00000164900 OTTHUMG00000158751 uc011kvg.3 L11239 NM_001098834 CCDS43682 Q14549 7903253 MGI:95667 RGD:621864 603354 8438 HGNC:4185 "ENST00000297537.5|NM_001098834.3" +HGNC:4186 GBX2 gastrulation brain homeobox 2 protein-coding gene gene with protein product Approved 2q37.2 02q37.2 gastrulation brain homeo box 2 HOXL subclass homeoboxes 518 1997-10-30 2005-12-22 2015-08-27 2637 ENSG00000168505 OTTHUMG00000133294 uc002vvw.2 AF118452 NM_001485 "CCDS77545|CCDS2515" P52951 "9346236|8838315" MGI:95668 RGD:621866 601135 8379 HGNC:4186 "ENST00000306318.5|NM_001485.4" +HGNC:55714 GBX2-AS1 GBX2 and ASB18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.2 02q37.2 2021-07-12 2021-07-12 121853074 ENSG00000233611 +HGNC:4187 GC GC vitamin D binding protein protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "DBP|VDBP|hDBP" "group-specific component (vitamin D binding protein)|GC, vitamin D binding protein" 1986-01-01 2019-01-25 2019-01-25 2638 ENSG00000145321 OTTHUMG00000129915 uc003hge.4 L10641 NM_000583 "CCDS3550|CCDS56332" P02774 558959 MGI:95669 RGD:2667 139200 HGNC:4187 "ENST00000273951.13|NM_000583.4" +HGNC:15990 GCA grancalcin protein-coding gene gene with protein product Approved 2q24.2 02q24.2 GCL "grancalcin, EF-hand calcium-binding protein|grancalcin, EF-hand calcium binding protein" EF-hand domain containing 863 2001-07-20 2015-11-27 2015-11-27 25801 ENSG00000115271 OTTHUMG00000132057 uc002ucg.4 M81637 NM_012198 "CCDS82527|CCDS2218" P28676 "1737748|1530588|12804766" MGI:1918521 RGD:1306589 607030 HGNC:15990 "ENST00000437150.7|NM_012198.5" +HGNC:52281 GCASPC gall bladder cancer associated suppressor of pyruvate carboxylase lncRNA non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 "TCONS_00011605|RP1-56L9.7-001|lnc-SOD2-1" Long non-coding RNAs with non-systematic symbols 1992 2016-08-04 2020-01-22 112441427 27450454 +HGNC:4188 GCAT glycine C-acetyltransferase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 KBL 2-amino-3-ketobutyrate coenzyme A ligase glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase) 1999-10-13 2010-01-19 2015-08-25 23464 ENSG00000100116 OTTHUMG00000150664 uc003atz.4 AF077740 NM_014291.2 "CCDS13957|CCDS54527" O75600 MGI:1349389 RGD:1307291 607422 2.3.1.29 HGNC:4188 "ENST00000248924.11|NM_014291.4" +HGNC:20013 GCATP1 glycine C-acetyltransferase pseudogene 1 pseudogene pseudogene Approved 14q23.2 14q23.2 GCATP glycine C-acetyltransferase pseudogene 2003-01-13 2010-01-19 2010-01-19 2020-04-07 319140 ENSG00000270878 OTTHUMG00000184525 NG_002517 PGOHUM00000247826 HGNC:20013 +HGNC:53740 GCAWKR gastric cancer associated WDR5 and KAT2A binding lncRNA non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Long non-coding RNAs with non-systematic symbols 1992 2021-01-27 2021-11-05 105369201 ENSG00000272808 NR_160702 30274785 +HGNC:19095 GCC1 GRIP and coiled-coil domain containing 1 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "FLJ22035|GCC88|GCC1P|MGC20706" golgi coiled-coil 1 Golgins 1084 2002-08-12 2003-10-17 2016-10-05 79571 ENSG00000179562 OTTHUMG00000023590 uc003vma.4 AF525417 NM_024523 CCDS5796 Q96CN9 10209125 MGI:1921625 RGD:2319954 607418 HGNC:19095 "ENST00000321407.3|NM_024523.6" +HGNC:23218 GCC2 GRIP and coiled-coil domain containing 2 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "GCC185|KIAA0336" GRIP and coiled-coil domain-containing 2 Golgins 1084 2003-10-17 2004-03-05 2015-08-25 9648 ENSG00000135968 OTTHUMG00000153214 uc002tec.4 BC020645 NM_014635 CCDS33268 Q8IWJ2 12446665 MGI:1917547 RGD:1305732 612711 HGNC:23218 "ENST00000309863.11|NM_181453.4" +HGNC:28126 GCC2-AS1 GCC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 Antisense RNAs 1987 2015-03-11 2020-04-20 644903 ENSG00000214184 OTTHUMG00000153224 BC004487 NR_135290 GCC2-AS1 HGNC:28126 +HGNC:4189 GCDH glutaryl-CoA dehydrogenase protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "ACAD5|GCD" glutaryl-Coenzyme A dehydrogenase Acyl-CoA dehydrogenase family 974 1992-12-17 2010-04-30 2021-05-26 2639 ENSG00000105607 OTTHUMG00000180561 uc002mvq.5 AF012342 NM_000159 CCDS12286 Q92947 "1438360|8088809" MGI:104541 RGD:1308829 608801 122045 1.3.8.6 HGNC:4189 "ENST00000222214.10|NM_000159.4" HGNC:4189 +HGNC:1317 GCFC2 GC-rich sequence DNA-binding factor 2 protein-coding gene gene with protein product Approved 2p12 02p12 "DNABF|GCF" GC binding factor "TCF9|C2orf3" "transcription factor 9 (binds GC-rich sequences)|chromosome 2 open reading frame 3" 2000-05-26 2011-11-24 2011-11-24 2020-10-08 6936 ENSG00000005436 OTTHUMG00000129989 uc002sno.4 AB026911 NM_003203 "CCDS1961|CCDS62943" P16383 "1370479|2556218|17309879|24304693" MGI:2141656 RGD:1304792 189901 HGNC:1317 "ENST00000321027.8|NM_003203.5" +HGNC:4191 GCG glucagon protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "GLP1|GLP2|GRPP|GLP-1" "glicentin-related polypeptide|glucagon-like peptide 1|glucagon-like peptide 2|preproglucagon" Receptor ligands 542 2001-06-22 2017-02-07 2641 ENSG00000115263 OTTHUMG00000153892 uc002ucc.5 NM_002054 CCDS46439 P01275 "2753890|3725587" MGI:95674 RGD:2668 138030 ligandId:5194 HGNC:4191 "ENST00000418842.7|NM_002054.5" +HGNC:4192 GCGR glucagon receptor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 GGR Glucagon receptor family 269 1994-03-04 2016-10-05 2642 ENSG00000215644 OTTHUMG00000177914 uc010wuw.2 "U03469|L20316" NM_000160 CCDS54177 P47871 8020989 MGI:99572 RGD:2669 138033 446713 objectId:251 HGNC:4192 "ENST00000400723.8|NM_000160.5" HGNC:4192 +HGNC:4193 GCH1 GTP cyclohydrolase 1 protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "GTPCH1|DYT5a" "dopa-responsive dystonia|GTP cyclohydrolase I" "GCH|DYT5|DYT14" dystonia 14 MicroRNA protein coding host genes 1691 1988-05-11 2008-08-01 2021-05-26 2643 ENSG00000131979 OTTHUMG00000029754 uc059bsc.1 U19523 NM_000161 "CCDS41954|CCDS9720|CCDS45110" P30793 "7874165|8695054" MGI:95675 RGD:61992 BIOMDBdb: Database of Mutations Causing BH4 Deficiencies and other PND|http://www.biopku.org/home/biomdb.asp 600225 122048 3.5.4.16 HGNC:4193 "ENST00000491895.7|NM_000161.3" HGNC:4193 +HGNC:4194 GCHFR GTP cyclohydrolase I feedback regulator protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "GFRP|HsT16933" GTP cyclohydrolase I feedback regulatory protein 1996-12-18 2004-05-20 2016-10-05 2644 ENSG00000137880 OTTHUMG00000130069 uc001zmr.2 U78190 NM_005258 CCDS10064 P30047 "8702680|1286669" MGI:2443977 RGD:621746 602437 HGNC:4194 "ENST00000260447.6|NM_005258.3" +HGNC:4195 GCK glucokinase protein-coding gene gene with protein product Approved 7p13 07p13 HK4 hexokinase 4 MODY2 "maturity onset diabetes of the young 2|glucokinase (hexokinase 4)" 1991-06-05 2016-01-22 2021-05-26 2645 ENSG00000106633 OTTHUMG00000022903 uc003tkl.3 AF041014 NM_000162 "CCDS5479|CCDS5480" P35557 "1740341|1502186" MGI:1270854 RGD:2670 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GCK|LRG_1074|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1074.xml" 138079 122053 objectId:2798 "2.7.1.2|2.7.1.1" HGNC:4195 "ENST00000403799.8|NM_000162.5" HGNC:4195 +HGNC:4196 GCKR glucokinase regulator protein-coding gene gene with protein product Approved 2p23.3 02p23.3 hexokinase 4 regulator glucokinase (hexokinase 4) regulatory protein 1993-08-24 2016-06-21 2016-10-05 2646 ENSG00000084734 OTTHUMG00000128426 uc002rky.4 Z48475 NM_001486 CCDS1757 Q14397 "9570959|8662230" MGI:1096345 RGD:2671 600842 HGNC:4196 "ENST00000264717.7|NM_001486.4" +HGNC:4311 GCLC glutamate-cysteine ligase catalytic subunit protein-coding gene gene with protein product Approved 6p12.1 06p12.1 GCS "GLCLC|GLCL" glutamate-cysteine ligase, catalytic subunit 1993-11-24 2016-02-24 2021-04-13 2729 ENSG00000001084 OTTHUMG00000160220 uc003pbw.3 M90656 NM_001197115 "CCDS75471|CCDS4952" P48506 1350904 MGI:104990 RGD:619868 LRG_1166|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1166.xml 606857 122057 6.3.2.2 HGNC:4311 "ENST00000650454.1|NM_001498.4" HGNC:4311 +HGNC:4312 GCLM glutamate-cysteine ligase modifier subunit protein-coding gene gene with protein product Approved 1p22.1 01p22.1 gamma-glutamylcysteine synthetase GLCLR glutamate-cysteine ligase, modifier subunit 1995-01-30 2016-01-21 2016-10-05 2730 ENSG00000023909 OTTHUMG00000010562 uc001dqg.2 L35546 NM_002061 "CCDS81352|CCDS746" P48507 7826375 MGI:104995 RGD:619871 601176 6.3.2.2 HGNC:4312 "ENST00000370238.8|NM_002061.4" +HGNC:4197 GCM1 glial cells missing transcription factor 1 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 hGCMa GCMA "glial cells missing (Drosophila) homolog a|glial cells missing homolog 1 (Drosophila)" 1998-10-02 2002-09-27 2018-11-09 2018-11-09 8521 ENSG00000137270 OTTHUMG00000014871 uc003pbp.4 D88613 NM_003643 CCDS4950 Q9NP62 "8962155|29743241" MGI:108045 RGD:61852 603715 HGNC:4197 "ENST00000259803.8|NM_003643.4" +HGNC:4198 GCM2 glial cells missing transcription factor 2 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 hGCMb GCMB "glial cells missing (Drosophila) homolog b|glial cells missing homolog 2 (Drosophila)" 1998-10-02 2002-09-27 2018-11-09 2021-05-26 9247 ENSG00000124827 OTTHUMG00000014249 uc003mzn.5 AF079550 NM_004752 CCDS4517 O75603 "9928992|30390809" MGI:1861438 RGD:1311127 603716 159623 HGNC:4198 "ENST00000379491.5|NM_004752.4" HGNC:4198 +HGNC:4199 GCN1 GCN1 activator of EIF2AK4 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "KIAA0219|GCN1L" GCN1L1 "GCN1 (general control of amino-acid synthesis 1, yeast)-like 1|GCN1 general control of amino-acid synthesis 1-like 1 (yeast)|GCN1, eIF2 alpha kinase activator homolog" "TOG domain containing|MicroRNA protein coding host genes" "1495|1691" 1999-08-20 2015-07-03 2019-02-01 2019-02-01 10985 ENSG00000089154 OTTHUMG00000169338 U77700 NM_006836 CCDS41847 Q92616 "9234705|27852836" MGI:2444248 RGD:1593434 605614 HGNC:4199 "ENST00000300648.7|NM_006836.2" +HGNC:15805 GCNA germ cell nuclear acidic peptidase protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 NAAR1 ACRC acidic repeat containing 2001-07-18 2016-10-19 2016-10-19 2016-10-19 93953 ENSG00000147174 OTTHUMG00000033327 uc004eae.3 AJ311392 NM_052957 CCDS35326 Q96QF7 27718356 300369 HGNC:15805 "ENST00000373696.8|NM_052957.5" +HGNC:52401 GCNAP1 GCNA pseudogene 1 pseudogene pseudogene Approved 12p13.31 12p13.31 2019-08-27 2019-08-27 100419929 ENSG00000256912 OTTHUMG00000168482 NG_023977 PGOHUM00000291229 HGNC:52401 +HGNC:4203 GCNT1 glucosaminyl (N-acetyl) transferase 1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "C2GNT|NAGCT2" "core 2 beta1,6 N-acetylglucosaminyltransferase-I|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase" NACGT2 "glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)|glucosaminyl (N-acetyl) transferase 1, core 2" Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 1993-09-07 2018-10-18 2018-10-18 2650 ENSG00000187210 OTTHUMG00000020044 uc010mpg.4 L41415 NM_001097634 CCDS6653 Q02742 "8449405|9915862" MGI:95676 RGD:621370 600391 2.4.1.102 HGNC:4203 "ENST00000376730.5|NM_001490.5" +HGNC:16532 GCNT1P1 glucosaminyl (N-acetyl) transferase 1 pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 bA189K21.2 GCNT1P "glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) pseudogene|glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 1" 2001-09-17 2010-03-16 2018-10-18 2018-10-18 170517 ENSG00000236474 OTTHUMG00000031974 L42230 NG_001039 PGOHUM00000247456 HGNC:16532 +HGNC:37972 GCNT1P2 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 2 pseudogene pseudogene Approved 5p14.3 05p14.3 2010-03-16 2014-11-19 100421560 ENSG00000249206 OTTHUMG00000161913 NG_021841 PGOHUM00000235160 HGNC:37972 +HGNC:37973 GCNT1P3 glucosaminyl (N-acetyl) transferase 1 pseudogene 3 pseudogene pseudogene Approved 3q28 03q28 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 3 2010-03-16 2018-10-18 2018-10-18 100421581 ENSG00000231047 OTTHUMG00000156212 NG_022287 PGOHUM00000238299 HGNC:37973 +HGNC:37974 GCNT1P4 glucosaminyl (N-acetyl) transferase 1 pseudogene 4 pseudogene pseudogene Approved 6q12 06q12 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 4 2010-03-16 2018-10-18 2018-10-18 100462829 ENSG00000219653 OTTHUMG00000014956 NG_022356 PGOHUM00000243659 HGNC:37974 +HGNC:37975 GCNT1P5 glucosaminyl (N-acetyl) transferase 1 pseudogene 5 pseudogene pseudogene Approved 7q11.23 07q11.23 glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene 5 2010-03-16 2018-10-18 2018-10-18 100421598 ENSG00000237620 OTTHUMG00000155782 NG_022567 PGOHUM00000233448 HGNC:37975 +HGNC:4204 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) protein-coding gene gene with protein product Approved 6p24.3-p24.2 06p24.3-p24.2 "IGNT|NAGCT1|bA421M1.1|bA360O19.2|ULG3" "Ii blood group|unassigned linkage group 3" "NACGT1|II|GCNT5|CCAT" "glucosaminyl (N-acetyl) transferase 5|cataract, congenital|glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)" "Glucosaminyl (N-acetyl) transferases/xylosyltransferases|Blood group antigens" "441|454" 1993-09-07 2018-02-22 2021-04-13 2651 ENSG00000111846 OTTHUMG00000014244 uc010jol.4 L41605 NM_145649 "CCDS34338|CCDS4512|CCDS4513" Q8N0V5 "8449405|9915862" MGI:1100870 RGD:1303198 LRG_819|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_819.xml 600429 426937 2.4.1.150 HGNC:4204 "ENST00000495262.7|NM_145649.5" HGNC:4204 +HGNC:21623 GCNT2P1 GCNT2 pseudogene 1 pseudogene pseudogene Approved 6p24.2 06p24.2 bA421M1.3 "GCNT6|GCNT2P" "glucosaminyl (N-acetyl) transferase 6|GCNT2 pseudogene" 2003-11-26 2018-10-18 2018-10-18 2018-10-18 644378 ENSG00000205318 OTTHUMG00000014243 NG_055911 HGNC:21623 +HGNC:4205 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "C2GnT-M|C2/4GnT|C2GnT2" Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 1999-02-26 2016-10-05 9245 ENSG00000140297 OTTHUMG00000132726 uc002age.4 AF102542 NM_004751 CCDS10172 O95395 "9915862|9988682" MGI:1919327 RGD:631333 606836 "2.4.1.102|2.4.1.150" HGNC:4205 "ENST00000396065.3|NM_004751.3" +HGNC:17973 GCNT4 glucosaminyl (N-acetyl) transferase 4 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 C2GNT3 "core 2 beta-1,6-N-acetylglucosaminyltransferase 3|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4" LINC01336 "glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)|glucosaminyl (N-acetyl) transferase 4, core 2|long intergenic non-protein coding RNA 1336" Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 2006-02-06 2018-10-18 2018-10-18 51301 ENSG00000176928 OTTHUMG00000131272 uc003kdn.4 AF132035 NM_016591 CCDS4026 Q9P109 10753916 MGI:2684919 RGD:1563891 616782 2.4.1.102 HGNC:17973 "ENST00000652361.2|NM_001366737.1" +HGNC:16099 GCNT7 glucosaminyl (N-acetyl) transferase family member 7 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 dJ1153D9.2 C20orf105 chromosome 20 open reading frame 105 Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 2001-07-17 2007-07-03 2007-07-03 2016-10-05 140687 ENSG00000124091 OTTHUMG00000032798 uc061xww.1 "AL109806|AK131203" NM_080615 Q6ZNI0 MGI:3606143 RGD:7496421 2.4.1.- HGNC:16099 +HGNC:26424 GCOM1 GCOM1, MYZAP-POLR2M combined locus other readthrough Approved 15q21.3 15q21.3 "FLJ30973|GRINL1A|MYZAP-POLR2M" MYZAP-POLR2M readthrough GRINL1A complex locus 1 2008-08-05 2020-12-17 2020-12-17 145781 ENSG00000137878 OTTHUMG00000176411 uc002aem.4 NM_001018090 "CCDS32247|CCDS73732|CCDS42043" "15233991|18849881" "MGI:107282|MGI:2142908" HGNC:26424 +HGNC:20253 GCSAM germinal center associated signaling and motility protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "MGC40441|HGAL" human germinal center-associated lymphoma GCET2 germinal center expressed transcript 2 2003-01-15 2012-08-23 2016-04-04 2016-10-05 257144 ENSG00000174500 OTTHUMG00000159231 uc003dys.2 BC030506 NM_152785 "CCDS2964|CCDS54621|CCDS54622" Q8N6F7 MGI:102969 RGD:1591321 607792 HGNC:20253 "ENST00000308910.9|NM_152785.5" +HGNC:29583 GCSAML germinal center associated signaling and motility like protein-coding gene gene with protein product Approved 1q44 01q44 FLJ44728 C1orf150 chromosome 1 open reading frame 150 2005-07-13 2012-08-23 2016-06-02 2016-06-02 148823 ENSG00000169224 OTTHUMG00000040648 uc031vul.1 AK126682 NM_145278 "CCDS1635|CCDS73058|CCDS60470" Q5JQS6 HGNC:29583 "ENST00000366488.5|NM_145278.5" +HGNC:41244 GCSAML-AS1 GCSAML antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q44 01q44 Antisense RNAs 1987 2012-08-23 2018-02-07 148824 OTTHUMG00000040649 uc057ram.1 NR_027309 GCSAML-AS1 HGNC:41244 +HGNC:4208 GCSH glycine cleavage system protein H protein-coding gene gene with protein product Approved 16q23.2 16q23.2 lipoic acid-containing protein glycine cleavage system protein H (aminomethyl carrier) 1992-04-08 2016-03-17 2021-04-13 2653 ENSG00000140905 OTTHUMG00000137626 uc002fgd.4 M69175 NM_004483 CCDS10933 P23434 "1671321|2025283" MGI:1915383 RGD:619946 LRG_541|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_541.xml 238330 122062 objectId:3098 HGNC:4208 "ENST00000315467.9|NM_004483.5" HGNC:4208 +HGNC:43922 GCSHP1 glycine cleavage system protein H pseudogene 1 pseudogene pseudogene Approved 5p13.1 05p13.1 glycine cleavage system protein H (aminomethyl carrier) pseudogene 1 2012-05-04 2016-06-27 2016-06-27 106480441 ENSG00000248651 OTTHUMG00000162068 NG_043382 PGOHUM00000235199 HGNC:43922 +HGNC:43927 GCSHP2 glycine cleavage system protein H pseudogene 2 pseudogene pseudogene Approved 14q32.32 14q32.32 glycine cleavage system protein H (aminomethyl carrier) pseudogene 2 2012-05-04 2016-06-27 2016-06-27 100288298 ENSG00000259525 OTTHUMG00000171893 NG_016382 PGOHUM00000248274 HGNC:43927 +HGNC:43929 GCSHP3 glycine cleavage system protein H pseudogene 3 pseudogene pseudogene Approved 2q33.3 02q33.3 glycine cleavage system protein H (aminomethyl carrier) pseudogene 3 2012-05-04 2016-06-27 2016-06-27 100329109 ENSG00000237580 OTTHUMG00000154650 NR_033248 PGOHUM00000240498 HGNC:43929 +HGNC:43930 GCSHP4 glycine cleavage system protein H pseudogene 4 pseudogene pseudogene Approved 12p13.31 12p13.31 glycine cleavage system protein H (aminomethyl carrier) pseudogene 4 2012-05-04 2016-06-27 2016-06-27 100287495 ENSG00000256171 OTTHUMG00000168636 NG_016379 PGOHUM00000239314 HGNC:43930 +HGNC:44195 GCSHP5 glycine cleavage system protein H pseudogene 5 pseudogene pseudogene Approved 1q24.2 01q24.2 2012-06-30 2012-07-04 100329108 ENSG00000224837 OTTHUMG00000034577 NG_029194 HGNC:44195 +HGNC:54400 GCSIR GPR55 cis regulatory suppressor of immune response RNA non-coding RNA RNA, long non-coding Approved 2q37.1 02q37.1 Lnc-ITM2C-1 Long non-coding RNAs with non-systematic symbols 1992 2019-06-20 2019-06-20 151484 ENSG00000232520 NR_038238 31200545 HGNC:54400 +HGNC:4212 GDA guanine deaminase protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "CYPIN|GAH" "cytoplasmic PSD-95 interactor|guanase|guanine aminohydrolase|nedasin" M38 metallopeptidases 1446 1999-05-05 2021-09-20 9615 ENSG00000119125 OTTHUMG00000020005 uc004aiq.4 AF095286 NM_001242505 "CCDS56577|CCDS56576|CCDS6641" Q9Y2T3 "10075721|3966794|29294243|10845757" MGI:95678 RGD:621617 139260 M38.981 HGNC:4212 "ENST00000358399.8|NM_004293.5" +HGNC:15968 GDAP1 ganglioside induced differentiation associated protein 1 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 "CMT4|CMT2K" CMT4A Charcot-Marie-Tooth neuropathy 4A 2001-06-25 2012-02-09 2021-05-26 54332 ENSG00000104381 OTTHUMG00000164509 uc003yah.4 NM_018972 "CCDS34911|CCDS47877" Q8TB36 "8268915|11743579" MGI:1338002 RGD:1309005 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_244|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_244.xml" 606598 122064 HGNC:15968 "ENST00000220822.12|NM_018972.4" HGNC:15968 +HGNC:4213 GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 ganglioside induced differentiation associated protein 1-like 1 2000-06-15 2016-06-16 2016-10-05 78997 ENSG00000124194 OTTHUMG00000032530 uc002xlq.5 NM_024034 "CCDS13328|CCDS74725|CCDS74726|CCDS74727" Q96MZ0 MGI:2385163 RGD:1304960 HGNC:4213 "ENST00000342560.10|NM_024034.6" +HGNC:18010 GDAP2 ganglioside induced differentiation associated protein 2 protein-coding gene gene with protein product Approved 1p12 01p12 "FLJ20142|dJ776P7.1|MACROD3" "BCH domain containing |Macro domain containing" "1299|1693" 2002-01-16 2016-10-05 54834 ENSG00000196505 OTTHUMG00000012199 uc001ehf.4 AK000149 NM_017686 "CCDS897|CCDS44201" Q9NXN4 1021725 MGI:1338001 RGD:1306050 618128 HGNC:18010 "ENST00000369443.10|NM_017686.4" HGNC:18010 +HGNC:29644 GDE1 glycerophosphodiester phosphodiesterase 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 MIR16 membrane interacting protein of RGS16 2008-01-25 2016-10-05 51573 ENSG00000006007 OTTHUMG00000131454 uc002dgh.4 NM_016641 CCDS10578 Q9NZC3 "12576545|16472945" MGI:1891827 RGD:621788 605943 3.1.4.46 HGNC:29644 "ENST00000353258.8|NM_016641.4" +HGNC:4214 GDF1 growth differentiation factor 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 Transforming growth factor beta superfamily 1932 1997-09-12 2021-05-26 2657 ENSG00000130283 OTTHUMG00000183278 uc060vuk.1 M62302 NM_001492 CCDS42526 P27539 2034669 MGI:95683 RGD:1304678 602880 166892 ligandId:4936 HGNC:4214 "ENST00000247005.8|NM_001492.6" HGNC:4214 +HGNC:4217 GDF2 growth differentiation factor 2 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "BMP-9|BMP9" Transforming growth factor beta superfamily 1932 1997-09-12 2015-02-03 2658 ENSG00000263761 OTTHUMG00000188320 uc001jfa.2 AF156891 NM_016204 CCDS73118 Q9UK05 10849432 MGI:1321394 RGD:1586196 605120 364602 ligandId:4889 HGNC:4217 "ENST00000581492.3|NM_016204.4" HGNC:4217 +HGNC:4218 GDF3 growth differentiation factor 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 Transforming growth factor beta superfamily 1932 1999-04-23 2016-10-05 9573 ENSG00000184344 OTTHUMG00000168433 uc001qte.4 AF263538 NM_020634 CCDS8581 Q9NR23 9467948 MGI:95686 RGD:1564178 606522 250181 ligandId:4938 HGNC:4218 "ENST00000329913.4|NM_020634.3" HGNC:4218 +HGNC:4220 GDF5 growth differentiation factor 5 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "CDMP1|BMP14" cartilage-derived morphogenetic protein-1 "MicroRNA protein coding host genes|Transforming growth factor beta superfamily" "1691|1932" 1997-12-05 2007-04-12 2021-05-26 8200 ENSG00000125965 OTTHUMG00000032341 uc032phz.2 X80915 NM_000557 CCDS13254 P43026 "9288091|9288098" MGI:95688 RGD:620102 601146 122066 ligandId:4879 HGNC:4220 "ENST00000374369.8|NM_000557.5" HGNC:4220 +HGNC:33435 GDF5-AS1 GDF5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 GDF5OS growth differentiation factor 5 opposite strand Antisense RNAs 1987 2007-04-12 2019-10-30 2019-10-30 2019-10-30 554250 ENSG00000204183 OTTHUMG00000055985 uc061wmk.1 BC085019 NR_161326 Q5U4N7 HGNC:33435 +HGNC:4221 GDF6 growth differentiation factor 6 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "BMP13|KFS|KFS1" SGM1 segmentation syndrome 1 Transforming growth factor beta superfamily 1932 1999-04-23 2021-05-26 392255 ENSG00000156466 OTTHUMG00000164710 uc003yhp.3 NM_001001557 CCDS34926 Q6KF10 "10022976|18425797" MGI:95689 RGD:620104 601147 209481 ligandId:4878 HGNC:4221 "ENST00000287020.7|NM_001001557.4" HGNC:4221 +HGNC:4222 GDF7 growth differentiation factor 7 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 BMP12 Transforming growth factor beta superfamily 1932 1999-04-23 2015-08-25 151449 ENSG00000143869 OTTHUMG00000090781 uc002rdz.2 AF522369 NM_182828 CCDS1701 Q7Z4P5 "10022976|9808626" MGI:95690 RGD:620105 604651 ligandId:4877 HGNC:4222 "ENST00000272224.5|NM_182828.4" +HGNC:4224 GDF9 growth differentiation factor 9 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 Transforming growth factor beta superfamily 1932 1997-09-12 2015-08-25 2661 ENSG00000164404 OTTHUMG00000059842 uc011cxj.3 NM_005260 "CCDS75299|CCDS4162" O60383 7760846 MGI:95692 RGD:71038 601918 400603 ligandId:4939 HGNC:4224 "ENST00000687138.1|NM_005260.7" HGNC:4224 +HGNC:4215 GDF10 growth differentiation factor 10 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 BMP-3b Transforming growth factor beta superfamily 1932 1997-09-12 2015-02-03 2662 ENSG00000266524 OTTHUMG00000188319 uc001jfb.4 L42113 NM_004962 CCDS73117 P55107 8679252 MGI:95684 RGD:621512 601361 ligandId:4937 HGNC:4215 "ENST00000580279.2|NM_004962.5" +HGNC:4216 GDF11 growth differentiation factor 11 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "BMP-11|BMP11" Transforming growth factor beta superfamily 1932 1999-12-02 2019-05-01 10220 ENSG00000135414 OTTHUMG00000170188 uc001shq.4 AF100907 NM_005811 CCDS8891 O95390 15988002 MGI:1338027 RGD:2673 603936 ligandId:4876 HGNC:4216 "ENST00000257868.10|NM_005811.5" +HGNC:30142 GDF15 growth differentiation factor 15 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "PLAB|MIC-1|PDF|MIC1|NAG-1|PTGFB" "prostate differentiation factor|non-steroidal anti-inflammatory drug-activated gene-1|macrophage inhibitory cytokine-1" "MicroRNA protein coding host genes|Transforming growth factor beta superfamily" "1691|1932" 2004-02-12 2018-01-16 9518 ENSG00000130513 OTTHUMG00000183360 uc002niv.2 BC008962 NM_004864 CCDS12376 Q99988 "11895857|9593718" MGI:1346047 RGD:2674 605312 470374 ligandId:9735 HGNC:30142 "ENST00000252809.3|NM_004864.4" +HGNC:4226 GDI1 GDP dissociation inhibitor 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "RABGDIA|XAP-4|OPHN2|FLJ41411" "mental retardation, X-linked 41|mental retardation, X-linked 48|rab GDP-dissociation inhibitor, alpha" "MRX48|MRX41|GDIL" 1997-11-11 2021-05-26 2664 ENSG00000203879 OTTHUMG00000033293 uc004fli.5 X79353 NM_001493 CCDS35452 P31150 "7543319|7849400" MGI:99846 RGD:2676 300104 122069 HGNC:4226 "ENST00000447750.7|NM_001493.3" HGNC:4226 +HGNC:4227 GDI2 GDP dissociation inhibitor 2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 RABGDIB rab GDP-dissociation 1997-11-11 2016-10-05 2665 ENSG00000057608 OTTHUMG00000017607 uc001iil.4 D13988 NM_001494 "CCDS44352|CCDS7071" P50395 9434952 MGI:99845 RGD:61802 600767 HGNC:4227 "ENST00000380191.9|NM_001494.4" +HGNC:4228 GDI2P1 GDP dissociation inhibitor 2 pseudogene 1 pseudogene pseudogene Approved 7p12.3 07p12.3 rab GDP-dissociation GDI2P GDP dissociation inhibitor 2 pseudogene 1998-04-28 2010-03-16 2010-03-16 2014-11-19 2667 ENSG00000229165 OTTHUMG00000155842 Y13298 NG_001124 9434952 PGOHUM00000232683 HGNC:4228 +HGNC:37976 GDI2P2 GDP dissociation inhibitor 2 pseudogene 2 pseudogene pseudogene Approved 1p31.1 01p31.1 2010-03-16 2014-11-19 100420259 ENSG00000233994 OTTHUMG00000009454 NG_022783 PGOHUM00000244755 HGNC:37976 +HGNC:4232 GDNF glial cell derived neurotrophic factor protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "ATF1|ATF2|HFB1-GDNF" "astrocyte-derived trophic factor|glial cell line derived neurotrophic factor|glial derived neurotrophic factor" GDNF family ligands 1586 1995-05-04 2016-10-05 2668 ENSG00000168621 OTTHUMG00000090809 uc063dca.1 NM_000514 "CCDS54846|CCDS3923|CCDS75237|CCDS3922|CCDS54845" P39905 8493557 MGI:107430 RGD:2677 600837 122076 ligandId:4940 HGNC:4232 "ENST00000326524.7|NM_000514.4" +HGNC:43592 GDNF-AS1 GDNF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 GDNFOS GDNF opposite strand "GDNF antisense RNA 1 (non-protein coding)|GDNF antisense RNA 1|GDNF antisense RNA 1 (head to head)" Antisense RNAs 1987 2011-11-16 2018-03-22 2018-03-22 100861519 ENSG00000248587 OTTHUMG00000162110 uc021xxo.2 DA359107 NR_103441 22081608 gdnf-as1 GDNF-AS1 HGNC:43592 +HGNC:20883 GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 protein-coding gene gene with protein product Approved 17q22 17q22 "FLJ37451|GDE4" 2005-01-11 2016-10-05 284161 ENSG00000153982 OTTHUMG00000179376 uc002ixk.3 AK094770 NM_182569 "CCDS11616|CCDS58584|CCDS58583" Q8N9F7 14612981 MGI:1913819 RGD:1311813 616317 HGNC:20883 "ENST00000284116.9|NM_182569.4" HGNC:20883 +HGNC:25974 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "OBDPF|FLJ20207|GDE3" osteoblast differentiation promoting factor 2004-04-23 2020-04-02 54857 ENSG00000130055 OTTHUMG00000021776 uc004dyh.4 AK000214 NM_017711 "CCDS55437|CCDS14402|CCDS55438" Q9HCC8 12975309 MGI:1918834 RGD:1560780 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GDPD2 300940 HGNC:25974 "ENST00000374382.4|NM_017711.4" +HGNC:28638 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC4171 2005-03-15 2014-11-19 79153 ENSG00000102886 OTTHUMG00000132106 uc002dwp.4 AK026256 NM_024307 CCDS10671 Q7L5L3 MGI:1915866 RGD:1308386 616318 HGNC:28638 "ENST00000406256.8|NM_024307.3" +HGNC:24849 GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 GDE6 2005-03-15 2015-08-25 220032 ENSG00000178795 OTTHUMG00000165136 uc001oyf.3 AY326450 NM_182833 CCDS8249 Q6W3E5 MGI:3606573 RGD:1585799 HGNC:24849 "ENST00000315938.5|NM_182833.3" +HGNC:28804 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 protein-coding gene gene with protein product Approved 11q13.4-q13.5 11q13.4-q13.5 "PP1665|GDE2" 2005-03-15 2018-02-13 81544 ENSG00000158555 OTTHUMG00000165484 uc001owp.5 AF318377 NM_030792 "CCDS8238|CCDS86229|CCDS86230" Q8WTR4 "18667693|17275818" MGI:2686926 RGD:1559673 609632 HGNC:28804 "ENST00000336898.8|NM_030792.8" +HGNC:34360 GDPGP1 GDP-D-glucose phosphorylase 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 C15orf58 chromosome 15 open reading frame 58 2008-07-02 2012-05-04 2012-05-04 2016-11-16 390637 ENSG00000183208 OTTHUMG00000172128 uc059ned.1 NM_001013657 CCDS32327 Q6ZNW5 21507950 MGI:2443429 RGD:1560277 619240 2.7.7.78 HGNC:34360 "ENST00000329600.8|NM_001013657.3" +HGNC:4234 GEM GTP binding protein overexpressed in skeletal muscle protein-coding gene gene with protein product Approved 8q22.1 08q22.1 KIR kinase-inducible Ras-like protein GTP-binding protein overexpressed in skeletal muscle RGK type GTPase family 1260 1995-08-15 2001-11-28 2016-10-05 2669 ENSG00000164949 OTTHUMG00000164392 uc003ygi.4 NM_181702 CCDS6261 P55040 "7912851|11956230" MGI:99844 RGD:1307386 600164 HGNC:4234 "ENST00000297596.3|NM_005261.4" +HGNC:10884 GEMIN2 gem nuclear organelle associated protein 2 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 SIP1 "survival of motor neuron protein interacting protein 1|gem (nuclear organelle) associated protein 2" Gemins 1131 1998-10-16 2011-08-04 2015-11-06 2015-11-06 8487 ENSG00000092208 OTTHUMG00000028816 uc001wuq.4 AF027150 NM_001009182 "CCDS9669|CCDS32068|CCDS41946" O14893 "9323130|9323129|11121410" MGI:1913853 RGD:620842 602595 HGNC:10884 "ENST00000308317.12|NM_003616.3" +HGNC:49561 GEMIN2P1 gem nuclear organelle associated protein 2 pseudogene 1 pseudogene pseudogene Approved 1q21.3 01q21.3 gem (nuclear organelle) associated protein 2 pseudogene 1 2014-01-14 2015-11-06 2015-11-06 101929669 ENSG00000235015 OTTHUMG00000037088 PGOHUM00000264153 HGNC:49561 +HGNC:49562 GEMIN2P2 gem nuclear organelle associated protein 2 pseudogene 2 pseudogene pseudogene Approved 3p22.1 03p22.1 gem (nuclear organelle) associated protein 2 pseudogene 2 2014-01-14 2015-11-06 2015-11-06 100287063 ENSG00000235339 OTTHUMG00000156200 PGOHUM00000238007 HGNC:49562 +HGNC:15717 GEMIN4 gem nuclear organelle associated protein 4 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "HHRF-1|DKFZP434B131|p97|DKFZP434D174|HC56|HCAP1" "HCC-associated protein 1|component of gems 4" gem (nuclear organelle) associated protein 4 "Minor histocompatibility antigens|Gemins" "870|1131" 2001-08-07 2015-11-06 2021-05-26 50628 ENSG00000179409 OTTHUMG00000177495 uc002frs.2 AF177341 NM_015721 CCDS45559 P57678 10725331 MGI:2449313 RGD:1563715 606969 HGNC:15717 "ENST00000319004.6|NM_015721.3" HGNC:15717 +HGNC:20043 GEMIN5 gem nuclear organelle associated protein 5 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 gem (nuclear organelle) associated protein 5 "WD repeat domain containing|Gemins" "362|1131" 2002-12-16 2015-11-06 2016-10-05 25929 ENSG00000082516 OTTHUMG00000130189 uc003lvx.4 AK022748 NM_001252156 CCDS4330 Q8TEQ6 11714716 MGI:2449311 RGD:1586275 607005 HGNC:20043 "ENST00000285873.8|NM_015465.5" +HGNC:20044 GEMIN6 gem nuclear organelle associated protein 6 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 FLJ23459 gem (nuclear organelle) associated protein 6 Gemins 1131 2002-12-16 2015-11-06 2015-11-06 79833 ENSG00000152147 OTTHUMG00000128588 uc002rrc.4 AF453443 NM_024775 CCDS1799 Q8WXD5 11748230 MGI:1914492 RGD:1311168 607006 HGNC:20044 "ENST00000281950.8|NM_024775.10" +HGNC:20045 GEMIN7 gem nuclear organelle associated protein 7 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ13956 gem (nuclear organelle) associated protein 7 Gemins 1131 2002-12-16 2015-11-06 2016-10-24 79760 ENSG00000142252 OTTHUMG00000181768 uc002paq.2 AK024018 NM_001007269 CCDS12654 Q9H840 12065586 MGI:1916981 RGD:1597035 607419 HGNC:20045 "ENST00000270257.9|NM_024707.3" +HGNC:53773 GEMIN7-AS1 GEMIN7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.32 19q13.32 Antisense RNAs 1987 2017-11-03 2017-11-03 105372419 ENSG00000267348 OTTHUMG00000181770 NR_134887 HGNC:53773 +HGNC:54938 GEMIN7P1 GEMIN7 pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-30 2020-04-30 100506654 ENSG00000225238 NG_030156 +HGNC:26044 GEMIN8 gem nuclear organelle associated protein 8 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 FLJ20514 FAM51A1 "family with sequence similarity 51, member A1|gem (nuclear organelle) associated protein 8" Gemins 1131 2004-09-06 2006-11-24 2015-11-06 2020-04-02 54960 ENSG00000046647 OTTHUMG00000021160 uc004cwb.4 BC020785 NM_017856 CCDS14159 Q9NWZ8 16434402 MGI:2384300 RGD:1359160 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GEMIN8 300962 HGNC:26044 "ENST00000680255.1|NM_001042479.2" +HGNC:31818 GEMIN8P1 gem nuclear organelle associated protein 8 pseudogene 1 pseudogene pseudogene Approved 15q23 15q23 "FAM51A2P|GEMIN8P" "family with sequence similarity 51, member A2 pseudogene|gem (nuclear organelle) associated protein 8 pseudogene|gem (nuclear organelle) associated protein 8 pseudogene 1" 2004-09-06 2010-03-16 2015-11-06 2020-04-20 100128431 ENSG00000259496 OTTHUMG00000172100 AC021818.9 NG_009513 PGOHUM00000246833 HGNC:31818 +HGNC:37977 GEMIN8P2 gem nuclear organelle associated protein 8 pseudogene 2 pseudogene pseudogene Approved 16q21 16q21 gem (nuclear organelle) associated protein 8 pseudogene 2 2010-03-16 2015-11-06 2015-11-06 644600 ENSG00000260451 OTTHUMG00000172972 NG_022523 PGOHUM00000249149 HGNC:37977 +HGNC:37978 GEMIN8P3 gem nuclear organelle associated protein 8 pseudogene 3 pseudogene pseudogene Approved Xq21.2 Xq21.2 gem (nuclear organelle) associated protein 8 pseudogene 3 2010-03-16 2015-11-06 2015-11-06 100421535 ENSG00000223772 OTTHUMG00000021942 NG_022678 PGOHUM00000241881 HGNC:37978 +HGNC:37979 GEMIN8P4 gem nuclear organelle associated protein 8 pseudogene 4 pseudogene pseudogene Approved 1p22.2 01p22.2 gem (nuclear organelle) associated protein 8 pseudogene 4 2010-03-16 2015-11-06 2015-11-06 492303 ENSG00000228175 OTTHUMG00000010673 NR_002830 PGOHUM00000244095 HGNC:37979 +HGNC:26881 GEN1 GEN1 Holliday junction 5' flap endonuclease protein-coding gene gene with protein product Approved 2p24.2 02p24.2 "FLJ40869|Gen" Holliday junction resolvase Gen endonuclease homolog 1 (Drosophila) 2007-11-14 2019-01-21 2019-01-21 348654 ENSG00000178295 OTTHUMG00000121173 uc002rct.3 AK098188 NM_182625 CCDS1691 Q17RS7 15576351 MGI:2443149 RGD:1559792 612449 HGNC:26881 "ENST00000381254.7|NM_001130009.3" HGNC:26881 +HGNC:12790 GET1 guided entry of tail-anchored proteins factor 1 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 CHD5 WRB tryptophan rich basic protein Guided entry of tail-anchored proteins complex subunits 1912 1997-07-22 2019-05-17 2019-05-17 2021-04-13 7485 ENSG00000182093 OTTHUMG00000066250 uc002yxs.4 NM_001146218 "CCDS13664|CCDS54485" O00258 "9544840|21444755" MGI:2136882 RGD:735104 LRG_1060|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1060.xml 602915 470088 HGNC:12790 "ENST00000649170.1|NM_004627.6" +HGNC:54635 GET1-SH3BGR GET1-SH3BGR readthrough other readthrough Approved 21q22.2 21q22.2 2019-10-23 2019-10-23 106865373 ENSG00000285815 NM_001317744 +HGNC:44010 GET1P1 GET1 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 WRBP1 tryptophan rich basic protein pseudogene 1 2012-05-28 2021-03-24 2021-03-24 2021-03-24 256085 ENSG00000248633 OTTHUMG00000161560 NG_006948 PGOHUM00000250729 HGNC:44010 +HGNC:752 GET3 guided entry of tail-anchored proteins factor 3, ATPase protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "ARSA-I|TRC40" "golgi to ER traffic 3 homolog (S. cerevisiae)|transmembrane domain recognition complex, 40kDa" ASNA1 arsA (bacterial) arsenite transporter, ATP-binding, homolog 1 "Guided entry of tail-anchored proteins complex subunits|GET4-GET5 transmembrane domain recognition complex subunits" "1912|1914" 1997-07-01 2019-05-17 2019-05-17 2020-09-17 439 ENSG00000198356 OTTHUMG00000180355 uc060uci.1 U60276 NM_004317 CCDS32920 O43681 "8884272|17382883" MGI:1928379 RGD:1307906 601913 3.6.3.16 HGNC:752 "ENST00000357332.8|NM_004317.4" +HGNC:21690 GET4 guided entry of tail-anchored proteins factor 4 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "CGI-20|H_NH1244M04.5|CEE|TRC35" "CGI-20 protein|conserved edge protein|transmembrane domain recognition complex, 35kDa" C7orf20 "chromosome 7 open reading frame 20|golgi to ER traffic protein 4 homolog (S. cerevisiae)|golgi to ER traffic protein 4" "BAG6 complex|GET4-GET5 transmembrane domain recognition complex subunits" "1891|1914" 2003-07-09 2010-03-24 2019-05-17 2019-05-17 51608 ENSG00000239857 OTTHUMG00000112459 uc003sjl.2 AK023560 NM_015949 CCDS5317 Q7L5D6 "10810093|20106980|20676083" MGI:1914854 RGD:1311660 612056 HGNC:21690 "ENST00000265857.8|NM_015949.3" +HGNC:4235 GFAP glial fibrillary acidic protein protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ45472 intermediate filament protein Intermediate filaments Type III 610 1989-12-07 2021-05-26 2670 ENSG00000131095 OTTHUMG00000179866 uc002ihq.3 S40719 NM_002055 "CCDS45708|CCDS59296|CCDS86602|CCDS11491" P14136 9693047 MGI:95697 RGD:2679 137780 122078 HGNC:4235 HGNC:4235 "ENST00000588735.3|NM_002055.5" HGNC:4235 +HGNC:4236 GFER growth factor, augmenter of liver regeneration protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HSS|ERV1|ALR|HERV1|HPO1|HPO2" "ERV1 homolog (S. cerevisiae)|FAD-linked sulfhydryl oxidase ALR|hepatic regenerative stimulation substance" growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration) 1997-03-19 2008-08-01 2020-10-21 2671 ENSG00000127554 OTTHUMG00000176896 uc002cob.4 BC002429 NM_005262 CCDS32368 P55789 8575761 MGI:107757 RGD:61845 600924 331852 1.8.3.2 HGNC:4236 "ENST00000248114.7|NM_005262.3" HGNC:4236 +HGNC:4237 GFI1 growth factor independent 1 transcriptional repressor protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "GFI1A|GFI-1" ZNF163 growth factor independent 1 "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 1994-10-17 2016-05-04 2021-04-13 2672 ENSG00000162676 OTTHUMG00000010897 uc001dow.5 U67369 NM_005263 CCDS30773 Q99684 7789186 MGI:103170 RGD:2680 "GFI1base: Mutation registry for SCN and NI-CINA|http://structure.bmc.lu.se/idbase/GFI1base/|LRG_63|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_63.xml" 600871 122080 HGNC:4237 "ENST00000294702.6|NM_005263.5" HGNC:4237 +HGNC:4238 GFI1B growth factor independent 1B transcriptional repressor protein-coding gene gene with protein product Approved 9q34.13 09q34.13 ZNF163B growth factor independent 1B (potential regulator of CDKN1A, translocated in CML) "Zinc fingers C2H2-type|SNAG transcriptional repressors|MicroRNA protein coding host genes" "28|1259|1691" 1998-09-17 2016-05-04 2021-05-26 8328 ENSG00000165702 OTTHUMG00000020848 uc064wsy.1 AF081946 NM_004188 "CCDS48049|CCDS6957" Q5VTD9 9878267 MGI:1276578 RGD:1311727 LRG_879|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_879.xml 604383 390922 HGNC:4238 "ENST00000372122.4|NM_001377304.1" HGNC:4238 +HGNC:13780 GFM1 G elongation factor mitochondrial 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "EFGM|GFM|EGF1|mtEF-G1" G translation elongation factor, mitochondrial 2004-11-25 2016-07-05 2018-05-08 85476 ENSG00000168827 OTTHUMG00000158804 uc003fce.4 AF309777 NM_024996 "CCDS82867|CCDS77851|CCDS33885" Q96RP9 "11374907|11735030" MGI:107339 RGD:631396 606639 166715 HGNC:13780 "ENST00000486715.6|NM_024996.7" HGNC:13780 +HGNC:29682 GFM2 GTP dependent ribosome recycling factor mitochondrial 2 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "EFG2|FLJ21661|EF-G2mt" ribosome releasing factor 2 G elongation factor mitochondrial 2 2004-09-30 2020-01-09 2020-03-10 84340 ENSG00000164347 OTTHUMG00000102058 uc003kdh.2 AF111808 NM_032380 "CCDS4023|CCDS47232|CCDS4024" Q969S9 "11735030|19716793" MGI:2444783 RGD:1309854 606544 470376 HGNC:29682 "ENST00000296805.8|NM_032380.5" HGNC:29682 +HGNC:21096 GFOD1 glucose-fructose oxidoreductase domain containing 1 protein-coding gene gene with protein product Approved 6p24.1-p23 06p24.1-p23 "FLJ20330|ADG-90" C6orf114 chromosome 6 open reading frame 114 2003-05-19 2018-02-13 54438 ENSG00000145990 OTTHUMG00000014276 uc003nat.3 AK000337 NM_018988 "CCDS4524|CCDS56397|CCDS64351" Q9NXC2 MGI:2145304 RGD:1311507 HGNC:21096 "ENST00000379287.4|NM_018988.4" +HGNC:40956 GFOD1-AS1 GFOD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p23 06p23 GFOD1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-30 2012-08-15 2021-06-28 100874025 ENSG00000237786 OTTHUMG00000014274 uc063lym.1 NR_046709 GFOD1-AS1 +HGNC:28159 GFOD2 glucose-fructose oxidoreductase domain containing 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ23802|MGC11335" 2006-04-06 2015-07-16 81577 ENSG00000141098 OTTHUMG00000137537 uc002eub.4 AK074382 NM_030819 "CCDS10845|CCDS59268" Q3B7J2 12975309 MGI:1917825 RGD:1311198 HGNC:28159 "ENST00000268797.12|NM_030819.4" +HGNC:4241 GFPT1 glutamine--fructose-6-phosphate transaminase 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "GFAT|GFA|GFAT1" GFPT glutamine-fructose-6-phosphate transaminase 1 1993-12-14 2010-05-11 2021-04-13 2673 ENSG00000198380 OTTHUMG00000152666 uc002sfh.4 NM_001244710 "CCDS33216|CCDS58713" Q06210 1460020 MGI:95698 RGD:1549703 LRG_787|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_787.xml 138292 259368 C44.970 2.6.1.16 HGNC:4241 "ENST00000357308.9|NM_001244710.2" HGNC:4241 +HGNC:4242 GFPT2 glutamine-fructose-6-phosphate transaminase 2 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 GFAT2 glutamine: fructose-6-phosphate aminotransferase 2 1999-05-06 2016-10-05 9945 ENSG00000131459 OTTHUMG00000163442 uc003mlw.2 AB016789 NM_005110 CCDS43411 O94808 10198162 MGI:1338883 RGD:1303097 603865 470378 C44.972 HGNC:4242 "ENST00000253778.13|NM_005110.4" +HGNC:4243 GFRA1 GDNF family receptor alpha 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "RETL1|GDNFR|GFR-ALPHA-1|RET1L|TRNR1" GDNFRA 1997-01-17 2016-10-05 2674 ENSG00000151892 OTTHUMG00000019097 uc009xyr.4 AF038421 NM_145793 "CCDS7593|CCDS44481" P56159 "9465905|9545641" MGI:1100842 RGD:2681 601496 objectId:1743 HGNC:4243 "ENST00000355422.11|NM_005264.8" +HGNC:4244 GFRA2 GDNF family receptor alpha 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "RETL2|GDNFRB|NTNRA|TRNR2" 1997-10-21 2014-11-19 2675 ENSG00000168546 OTTHUMG00000163897 uc064kuz.1 AF002700 NM_001495 "CCDS47816|CCDS55208|CCDS55207" O00451 9177201 MGI:1195462 RGD:61809 601956 objectId:1744 HGNC:4244 "ENST00000524240.6|NM_001495.5" +HGNC:4245 GFRA3 GDNF family receptor alpha 3 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 GFRa-3 1998-02-27 2016-10-05 2676 ENSG00000146013 OTTHUMG00000129200 uc003lcn.4 AY358997 NM_001496 CCDS4201 O60609 9407096 MGI:1201403 RGD:620502 605710 objectId:1745 HGNC:4245 "ENST00000274721.8|NM_001496.4" +HGNC:13821 GFRA4 GDNF family receptor alpha 4 protein-coding gene gene with protein product Approved 20p13 20p13 persephin receptor 2001-01-18 2016-10-05 64096 ENSG00000125861 OTTHUMG00000031748 uc002wio.4 AF253318 NM_145762 "CCDS13055|CCDS13056" Q9GZZ7 "10958791|15225646" MGI:1341873 RGD:620503 618679 objectId:1746 HGNC:13821 "ENST00000290417.7|NM_022139.4" +HGNC:32789 GFRAL GDNF family receptor alpha like protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "GRAL|UNQ9356|bA360D14.1" C6orf144 chromosome 6 open reading frame 144 2006-05-18 2017-11-02 389400 ENSG00000187871 OTTHUMG00000014900 uc003pcm.1 AY358198 NM_207410 CCDS4957 Q6UXV0 "16086688|28846097|28846098|28846099" MGI:3607786 RGD:1565220 617837 objectId:2977 HGNC:32789 "ENST00000340465.2|NM_207410.2" +HGNC:12390 GFUS GDP-L-fucose synthase protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FX|P35B|SDR4E1" short chain dehydrogenase/reductase family 4E, member 1 TSTA3 tissue specific transplantation antigen P35B Short chain dehydrogenase/reductase superfamily 743 1998-03-20 2020-05-07 2020-05-07 2020-05-07 7264 ENSG00000104522 OTTHUMG00000165159 uc003yzb.3 U58766 NM_003313 CCDS6408 Q13630 "7803801|1348494|19027726" MGI:98857 RGD:1307028 137020 1.1.1.271 HGNC:12390 "ENST00000425753.7|NM_003313.4" +HGNC:44663 GFY golgi associated olfactory signaling regulator protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Goofy Golgi protein in olfactory neurons 2014-01-10 2015-12-11 2015-12-11 100507003 ENSG00000261949 OTTHUMG00000177824 NM_001195256 CCDS58672 I3L273 23926254 MGI:2685427 RGD:6500406 618696 HGNC:44663 "ENST00000610896.3|NM_001195256.2" +HGNC:17842 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Golgi associated, gamma adaptin ear containing, ARF binding proteins 1031 2001-12-19 2016-06-08 2016-10-05 26088 ENSG00000100083 OTTHUMG00000030985 uc003atc.4 AF190862 NM_013365 "CCDS13951|CCDS54526|CCDS33643|CCDS87022" Q9UJY5 "10747088|10747089|16407204" MGI:2146207 RGD:1307770 606004 HGNC:17842 "ENST00000343632.9|NM_013365.5" +HGNC:16064 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "VEAR|KIAA1080" golgi-associated, gamma adaptin ear containing, ARF binding protein 2 Golgi associated, gamma adaptin ear containing, ARF binding proteins 1031 2001-12-19 2016-03-21 2016-10-05 23062 ENSG00000103365 OTTHUMG00000096957 uc002dlq.3 AF190863 NM_015044 CCDS10611 Q9UJY4 "10747088|10749927" MGI:1921355 RGD:1304800 606005 HGNC:16064 "ENST00000309859.8|NM_015044.4" +HGNC:17079 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA0154 golgi-associated, gamma adaptin ear containing, ARF binding protein 3 Golgi associated, gamma adaptin ear containing, ARF binding proteins 1031 2001-12-19 2016-03-30 2016-10-05 23163 ENSG00000125447 OTTHUMG00000179483 uc032frk.2 AF190864 NM_138619 "CCDS54164|CCDS11717|CCDS11716|CCDS58597" Q9NZ52 "10747089|10749927" MGI:2384159 RGD:1309553 606006 HGNC:17079 "ENST00000537686.6|NM_138619.4" +HGNC:25100 GGACT gamma-glutamylamine cyclotransferase protein-coding gene gene with protein product Approved 13q32.3 13q32.3 A2LD1 AIG2-like domain 1 2008-08-12 2012-09-27 2012-09-27 2017-12-15 87769 ENSG00000134864 OTTHUMG00000017291 uc058yas.1 NM_033110 CCDS45066 Q9BVM4 20110353 MGI:2385008 RGD:1304748 613378 4.3.2.9 HGNC:25100 "ENST00000683975.1|NM_001195087.2" +HGNC:21705 GGCT gamma-glutamylcyclotransferase protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "MGC3077|CRF21|Ggc" "C7orf24|GCTG" chromosome 7 open reading frame 24 2003-07-14 2008-08-04 2010-04-23 2017-12-15 79017 ENSG00000006625 OTTHUMG00000128593 uc003tba.4 BC019243 NM_024051 "CCDS56474|CCDS56475|CCDS56476|CCDS5428" O75223 "17932939|18515354" MGI:95700 RGD:1304876 137170 objectId:1392 4.3.2.9 HGNC:21705 "ENST00000275428.9|NM_024051.4" +HGNC:54609 GGCTP1 GGCT pseudogene 1 pseudogene pseudogene Approved 5q15 05q15 2019-10-16 2019-10-16 100528061 ENSG00000251000 NG_028017 +HGNC:54610 GGCTP2 GGCT pseudogene 2 pseudogene pseudogene Approved 20p11.23 20p11.23 2019-10-16 2019-10-16 100529052 ENSG00000232943 NG_028021 +HGNC:54611 GGCTP3 GGCT pseudogene 3 pseudogene pseudogene Approved 2p16.3 02p16.3 2019-10-16 2019-10-16 100528063 ENSG00000225842 NG_028018 +HGNC:4247 GGCX gamma-glutamyl carboxylase protein-coding gene gene with protein product Approved 2p11.2 02p11.2 VKCFD1 "vitamin K-dependent gamma-carboxylase|peptidyl-glutamate 4-carboxylase" 1994-07-04 2021-05-26 2677 ENSG00000115486 OTTHUMG00000130173 uc002sps.4 NM_000821 "CCDS1978|CCDS46353" P38435 1749935 MGI:1927655 RGD:68383 LRG_592|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_592.xml 137167 122083 objectId:1268 4.1.1.90 HGNC:4247 "ENST00000233838.9|NM_000821.7" HGNC:4247 +HGNC:4248 GGH gamma-glutamyl hydrolase protein-coding gene gene with protein product Approved 8q12.3 08q12.3 GATD10 "conjugase|folylpolygammaglutamyl hydrolase" Glutamine amidotransferase class 1 domain containing 1408 1999-02-10 2016-01-18 2021-04-20 8836 ENSG00000137563 OTTHUMG00000164365 uc003xuw.4 U55206 NM_003878 CCDS6177 Q92820 "8816764|10570974" MGI:1329035 RGD:2682 601509 311355 C26.001 objectId:2367 3.4.19.9 HGNC:4248 "ENST00000260118.7|NM_003878.3" +HGNC:18869 GGN gametogenetin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ35713|MGC33369" 2005-01-07 2020-01-06 199720 ENSG00000179168 OTTHUMG00000182080 uc002oij.2 AF538035 NM_152657 CCDS12516 Q86UU5 12574169 MGI:2181461 RGD:1306765 609966 HGNC:18869 "ENST00000334928.11|NM_152657.4" +HGNC:19427 GGNBP1 gametogenetin binding protein 1 (pseudogene) pseudogene pseudogene Approved 6p21.31 06p21.31 gametogenetin binding protein 1 2007-08-20 2012-04-19 2015-01-16 449520 ENSG00000204188 OTTHUMG00000187092 NR_028361 Q5YKI7 15642376 MGI:3055306 RGD:1359729 609495 HGNC:19427 +HGNC:19357 GGNBP2 gametogenetin binding protein 2 protein-coding gene gene with protein product Approved 17q12 17q12 "ZFP403|LZK1|FLJ22561|FLJ21230|DIF-3|DIF3" ZNF403 zinc finger protein 403 2004-02-26 2007-08-20 2007-08-20 2015-02-03 79893 ENSG00000278311 OTTHUMG00000188440 uc032ggv.3 AF126964 NM_024835 CCDS11314 Q9H3C7 11728448 MGI:2387356 RGD:1302978 612275 HGNC:19357 "ENST00000613102.5|NM_024835.5" +HGNC:4249 GGPS1 geranylgeranyl diphosphate synthase 1 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 GGPPS1 Geranylgeranyl pyrophosphate synthase 1999-08-26 2021-05-26 9453 ENSG00000152904 OTTHUMG00000037963 uc001hwv.4 AB016043 NM_004837 CCDS1604 O95749 "9741684|10101267" MGI:1341724 RGD:1359680 606982 objectId:643 "2.5.1.1|2.5.1.10|2.5.1.29" HGNC:4249 "ENST00000282841.9|NM_004837.4" +HGNC:4250 GGT1 gamma-glutamyltransferase 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "D22S672|D22S732|CD224" GGT "CD molecules|Gamma-glutamyltransferases" "471|564" 1986-01-01 2014-11-19 2678 ENSG00000100031 OTTHUMG00000030859 uc003aan.2 M24903 NM_013430 CCDS42992 P19440 "8104871|18357469" MGI:95706 RGD:2683 612346 122086 T03.006 CD224 2.3.2.2 HGNC:4250 "ENST00000400382.6|NM_001288833.2" HGNC:4250 +HGNC:4251 GGT2P gamma-glutamyltransferase 2, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 "GGT|GGT2" gamma-glutamyltransferase 2 Gamma-glutamyltransferases 564 1989-06-30 2022-01-06 2022-01-06 2022-01-06 728441 ENSG00000133475 OTTHUMG00000150617 uc062byb.1 M30474 NR_172944 P36268 "8104871|18357469" MGI:95706 137181 T03.015 2.3.2.2 HGNC:4251 +HGNC:4252 GGT3P gamma-glutamyltransferase 3 pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 GGT3 gamma-glutamyltransferase 3 Gamma-glutamyltransferases 564 1992-08-04 2008-03-10 2008-03-10 2015-08-13 2679 ENSG00000197421 OTTHUMG00000150161 NR_003267 A6NGU5 "8104871|18357469" MGI:95706 PGOHUM00000297454 HGNC:4252 +HGNC:33207 GGT4P gamma-glutamyltransferase 4 pseudogene pseudogene pseudogene Approved 13q11 13q11 Gamma-glutamyltransferases 564 2008-03-10 2015-08-13 643171 ENSG00000280208 OTTHUMG00000189382 XR_038677 18357469 PGOHUM00000291846 HGNC:33207 +HGNC:4260 GGT5 gamma-glutamyltransferase 5 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 GGT-REL GGTLA1 gamma-glutamyltransferase-like activity 1 Gamma-glutamyltransferases 564 1992-08-24 2008-03-10 2008-03-10 2016-02-02 2687 ENSG00000099998 OTTHUMG00000150796 uc002zzo.4 M64099 NM_004121 "CCDS13825|CCDS42989|CCDS42990" P36269 "1676842|8095916|18357469" MGI:1346063 RGD:2684 137168 T03.002 2.3.2.2 HGNC:4260 "ENST00000327365.10|NM_004121.5" +HGNC:26891 GGT6 gamma-glutamyltransferase 6 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 FLJ90165 gamma-glutamyltransferase 6 homolog (rat) Gamma-glutamyltransferases 564 2005-11-14 2008-03-10 2014-11-18 124975 ENSG00000167741 OTTHUMG00000177827 uc002fyd.6 AK074646 NM_153338 "CCDS11047|CCDS45582|CCDS73942" Q6P531 18357469 MGI:1918772 RGD:1303335 612341 HGNC:26891 "ENST00000381550.8|NM_001288702.2" +HGNC:4259 GGT7 gamma-glutamyltransferase 7 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "D20S101|dJ18C9.2" "GGTL5|GGTL3" gamma-glutamyltransferase-like 3 Gamma-glutamyltransferases 564 1992-08-04 2008-03-10 2008-03-10 2016-07-28 2686 ENSG00000131067 OTTHUMG00000032314 uc002xay.4 AL049709 NM_178026 CCDS13242 Q9UJ14 "8104871|18357469" MGI:1913385 RGD:619870 612342 T03.017 2.3.2.2 HGNC:4259 "ENST00000336431.10|NM_178026.3" +HGNC:33438 GGT8P gamma-glutamyltransferase 8 pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 FLJ31276 GGT1P1 gamma-glutamyltransferase 1 pseudogene 1 Gamma-glutamyltransferases 564 2008-01-23 2008-03-10 2008-03-10 2016-10-05 645367 ENSG00000236969 OTTHUMG00000155086 AK055838 NR_003503 18357469 HGNC:33438 +HGNC:4253 GGTA1 glycoprotein alpha-galactosyltransferase 1 (inactive) protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "GLYT2|GGTA|GGTA1P" "glycoprotein, alpha-galactosyltransferase 1|glycoprotein alpha-galactosyltransferase 1, pseudogene" 1990-08-03 2020-05-21 2020-05-21 2020-05-21 2681 ENSG00000204136 OTTHUMG00000020592 NM_001382585 Q4G0N0 "1559713|2108966" MGI:95704 RGD:629476 104175 HGNC:4253 "ENST00000481799.6|NM_001382585.1" +HGNC:4254 GGTA2P glycoprotein alpha-galactosyltransferase 2, pseudogene pseudogene pseudogene Approved 12q14.3 12q14.3 HGT2 "GLYT2L|GLYT3|GGTA1P" glycoprotein, alpha-galactosyltransferase 1 pseudogene 1991-09-12 2010-03-19 2019-01-21 2019-01-21 121328 ENSG00000237766 OTTHUMG00000169051 NG_002767 1901859 PGOHUM00000239505 HGNC:4254 +HGNC:16437 GGTLC1 gamma-glutamyltransferase light chain 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ831C21.2|dJ831C21.1" "GGTLA4|GGTLA3" "gamma-glutamyltransferase-like activity 4|gamma-glutamyltransferase-like activity 3" Gamma-glutamyltransferases 564 2001-09-17 2008-03-10 2008-03-10 2015-09-10 92086 ENSG00000149435 OTTHUMG00000032095 uc002wtu.3 AL133466 NM_178311.2 CCDS13163 Q9BX51 "10843999|18357469" MGI:95706 612338 HGNC:16437 "ENST00000335694.4|NM_178311.3" +HGNC:18596 GGTLC2 gamma-glutamyltransferase light chain 2 protein-coding gene gene with protein product Approved 22q11.22 22q11.22 GGTL4 gamma-glutamyltransferase-like 4 Gamma-glutamyltransferases 564 2002-04-29 2008-03-10 2008-03-10 2016-10-05 91227 ENSG00000100121 OTTHUMG00000151177 uc062ccl.1 X98922 NM_199127 CCDS13802 Q14390 "9074928|18357469" MGI:95706 612339 T03.016 HGNC:18596 "ENST00000448514.3|NM_199127.3" +HGNC:33426 GGTLC3 gamma-glutamyltransferase light chain family member 3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 gamma-glutamyltransferase light chain 3 Gamma-glutamyltransferases 564 2008-03-10 2017-11-23 2017-11-23 728226 ENSG00000274252 OTTHUMG00000188352 uc062biv.1 L10397 NM_001355479 CCDS86996 B5MD39 18357469 612340 HGNC:33426 "ENST00000619998.1|NM_001355479.1" +HGNC:33428 GGTLC4P gamma-glutamyltransferase light chain 4 pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 Gamma-glutamyltransferases 564 2008-03-10 2015-08-13 729838 ENSG00000230712 OTTHUMG00000150766 L10395 XR_015549 18357469 PGOHUM00000297502 HGNC:33428 +HGNC:33427 GGTLC5P gamma-glutamyltransferase light chain 5 pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 Gamma-glutamyltransferases 564 2008-03-10 2015-08-13 653590 ENSG00000276160 OTTHUMG00000188346 L10399 XR_016962 18357469 PGOHUM00000297626 HGNC:33427 +HGNC:4261 GH1 growth hormone 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "GH-N|GHN|GH|hGH-N" "pituitary growth hormone|somatotropin" Growth hormone family 1175 2001-06-22 2016-01-15 2688 ENSG00000259384 OTTHUMG00000172293 uc002jdj.4 M13438 NM_000515 "CCDS11653|CCDS11654|CCDS45760" P01241 6306568 MGI:95707 RGD:2686 139250 122092 ligandId:4943 HGNC:4261 "ENST00000323322.10|NM_000515.5" HGNC:4261 +HGNC:4262 GH2 growth hormone 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "GH-V|GHV|GHL|hGH-V" "placental-specific growth hormone|placenta-specific growth hormone" Growth hormone family 1175 2001-06-22 2016-01-15 2689 ENSG00000136487 OTTHUMG00000172284 uc002jco.3 J03756 NM_002059 "CCDS11648|CCDS45757|CCDS11647|CCDS45758" P01242 6306568 MGI:95707 139240 ligandId:4944 HGNC:4262 "ENST00000423893.7|NM_002059.5" +HGNC:24438 GHDC GH3 domain containing protein-coding gene gene with protein product Approved 17q21.2 17q21.2 LGP1 2006-08-02 2020-04-01 84514 ENSG00000167925 OTTHUMG00000180108 uc060fhk.1 "AF316997|BC011056" NM_032484 "CCDS45682|CCDS11422" Q8N2G8 "11161808|11735219" MGI:1931556 RGD:1308881 608587 HGNC:24438 "ENST00000587427.6|NM_032484.5" +HGNC:49425 GHET1 gastric carcinoma proliferation enhancing transcript 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 lncRNA-GHET1 gastric carcinoma high expressed transcript 1 Long non-coding RNAs with non-systematic symbols 1992 2014-01-07 2016-11-24 102723099 ENSG00000281189 OTTHUMG00000189524 "AK123072|BC037977" NR_130107 24397586 ghet1 HGNC:49425 +HGNC:17281 GHITM growth hormone inducible transmembrane protein protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "HSPC282|PTD010|DERP2|My021|TMBIM5" transmembrane BAX inhibitor motif containing 5 Transmembrane BAX inhibitor motif containing 1215 2001-12-10 2014-11-19 27069 ENSG00000165678 OTTHUMG00000018637 uc001kcs.2 AB009685 NM_014394 CCDS41542 Q9H3K2 "8619474|9110174" MGI:1913342 RGD:1359301 619205 HGNC:17281 "ENST00000372134.6|NM_014394.3" +HGNC:4263 GHR growth hormone receptor protein-coding gene gene with protein product Approved 5p13.1-p12 05p13.1-p12 GHBP growth hormone binding protein Fibronectin type III domain containing 555 1989-06-30 2021-05-26 2690 ENSG00000112964 OTTHUMG00000094791 uc003jmt.4 NM_000163 "CCDS75239|CCDS56364|CCDS75240|CCDS3940" P10912 MGI:95708 RGD:2687 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GHR 600946 122095 objectId:1720 HGNC:4263 "ENST00000230882.9|NM_000163.5" HGNC:4263 +HGNC:4265 GHRH growth hormone releasing hormone protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "sermorelin|somatocrinin|somatoliberin" GHRF Neuropeptides 1902 1986-01-01 2016-10-05 2691 ENSG00000118702 OTTHUMG00000032413 uc002xgs.5 NM_001184731 "CCDS13292|CCDS54460" P01286 3918305 MGI:95709 RGD:61883 139190 ligandId:2270 HGNC:4265 "ENST00000373614.7|NM_021081.6" +HGNC:4266 GHRHR growth hormone releasing hormone receptor protein-coding gene gene with protein product Approved 7p14.3 07p14.3 Glucagon receptor family 269 1993-06-22 2021-05-26 2692 ENSG00000106128 OTTHUMG00000152801 uc003tbx.4 NM_000823 CCDS5432 Q02643 "7680413|7514564" MGI:95710 RGD:2688 139191 122097 objectId:247 HGNC:4266 "ENST00000326139.7|NM_000823.4" HGNC:4266 +HGNC:18129 GHRL ghrelin and obestatin prepropeptide protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "MTLRP|ghrelin|obestatin" prepro-appetite regulatory hormone "ghrelin, growth hormone secretagogue receptor ligand|ghrelin/obestatin prepropeptide" Neuropeptides 1902 2006-01-05 2016-08-10 2016-08-10 51738 ENSG00000157017 OTTHUMG00000155360 uc021wsz.2 AF296558 NM_016362 "CCDS33700|CCDS46749|CCDS46750|CCDS46747|CCDS46748" Q9UBU3 "10930375|10604470|16284174" MGI:1930008 RGD:632283 605353 ligandId:1099 HGNC:18129 "ENST00000335542.13|NM_016362.5" +HGNC:33885 GHRLOS ghrelin opposite strand/antisense RNA non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 "NCRNA00068|GHRL-AS1" "non-protein coding RNA 68|GHRL antisense RNA 1 (non-protein coding)" "ghrelin opposite strand RNA (non-protein coding)|ghrelin opposite strand/antisense RNA (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2007-11-20 2011-11-14 2012-08-15 2014-10-03 100126793 ENSG00000240288 OTTHUMG00000155359 uc062grr.1 EF549568 NR_004431 "17727735|18954468" 618445 GHRLOS HGNC:33885 +HGNC:4267 GHSR growth hormone secretagogue receptor protein-coding gene gene with protein product Approved 3q26.31 03q26.31 Peptide receptors 220 1997-09-12 2014-11-19 2693 ENSG00000121853 OTTHUMG00000156946 uc003fib.3 AY429112 NM_004122 "CCDS3218|CCDS46959" Q92847 8688086 MGI:2441906 RGD:621397 601898 201252 objectId:246 HGNC:4267 "ENST00000241256.3|NM_198407.2" HGNC:4267 +HGNC:28453 GID4 GID complex subunit 4 homolog protein-coding gene gene with protein product Approved 17p11.2 17p11.2 VID24 vacuolar import and degradation 24 C17orf39 "chromosome 17 open reading frame 39|GID complex subunit 4, VID24 homolog (S. cerevisiae)|GID complex subunit 4" 2004-04-20 2012-07-20 2015-07-22 2015-08-25 79018 ENSG00000141034 OTTHUMG00000059398 uc002gsg.2 AK127580 NM_024052 CCDS11190 Q8IVV7 11997338 MGI:1914021 RGD:1588894 617699 HGNC:28453 "ENST00000268719.9|NM_024052.5" +HGNC:15857 GID8 GID complex subunit 8 homolog protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ20602|bA305P22.1|TWA1" two hybrid associated protein No. 1 with RanBPM C20orf11 "chromosome 20 open reading frame 11|GID complex subunit 8 homolog (S. cerevisiae)|GID complex subunit 8" CTLH complex 1561 2001-06-21 2012-07-20 2016-04-05 2016-04-05 54994 ENSG00000101193 OTTHUMG00000032949 uc002ydy.4 AK000609 NM_017896 CCDS13510 Q9NWU2 12559565 MGI:1923675 RGD:735024 611625 HGNC:15857 "ENST00000266069.5|NM_017896.3" +HGNC:9126 GIGYF1 GRB10 interacting GYF protein 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 GYF1 GYF domain containing 1 PERQ1 PERQ amino acid rich, with GYF domain 1 Armadillo like helical domain containing 1492 1998-06-03 2008-02-11 2008-02-11 2016-10-05 64599 ENSG00000146830 OTTHUMG00000157036 uc003uwg.2 AF053356 NM_022574 CCDS34708 O75420 "9799793|12771153" MGI:1888677 RGD:1309933 612064 HGNC:9126 "ENST00000678049.1|NM_001375765.1" +HGNC:11960 GIGYF2 GRB10 interacting GYF protein 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "KIAA0642|GYF2" GYF domain containing 2 "PERQ2|PERQ3|TNRC15|PARK11" "PERQ amino acid rich, with GYF domain 2|PERQ amino acid rich, with GYF domain 3|trinucleotide repeat containing 15|Parkinson disease (autosomal recessive, early onset) 11" 2000-01-27 2008-02-11 2008-02-11 2020-04-02 26058 ENSG00000204120 OTTHUMG00000153237 uc002vtk.6 U80751 NM_001103146 "CCDS46542|CCDS33401|CCDS46543" Q6Y7W6 "9225980|9734811|12771153|18358451|19279319" MGI:2138584 RGD:2318130 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PARK11 612003 159059 HGNC:11960 "ENST00000373563.9|NM_001103146.3" HGNC:11960 +HGNC:52649 GIHCG GIHCG inhibitor of miR-200b/200a/429 expression non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 lncRNA-GIHCG lncRNA gradually increased during hepatocarcinogenesis GIHCG, inhibitor of miR-200b/200a/429 expression Long non-coding RNAs with non-systematic symbols 1992 2018-07-25 2019-01-25 2019-01-25 100506844 ENSG00000257698 OTTHUMG00000170492 NR_038269 "27380494|29364470|29565468|29953645" HGNC:52649 +HGNC:23237 GIMAP1 GTPase, IMAP family member 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HIMAP1|IMAP38|IMAP1|IAN2" immune-associated nucleotide-binding protein 2 GTPases, IMAP 580 2004-10-29 2014-11-18 170575 ENSG00000213203 OTTHUMG00000157489 uc003whq.4 AJ306287 NM_130759 CCDS5906 Q8WWP7 "15474311|18701445" MGI:109368 RGD:1306777 608084 HGNC:23237 "ENST00000307194.6|NM_130759.4" +HGNC:51257 GIMAP1-GIMAP5 GIMAP1-GIMAP5 readthrough other readthrough Approved 7q36.1 07q36.1 2015-01-27 2016-11-09 100527949 ENSG00000281887 OTTHUMG00000189885 NM_001199577 "MGI:1932723|MGI:2442232" HGNC:51257 +HGNC:21789 GIMAP2 GTPase, IMAP family member 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "DKFZp586D0824|HIMAP2|IMAP2|IAN12" immune-associated nucleotide-binding protein 12 GTPases, IMAP 580 2004-10-29 2014-11-18 26157 ENSG00000106560 OTTHUMG00000157488 uc003who.4 AL110151 NM_015660 CCDS5905 Q9UG22 15474311 608085 HGNC:21789 "ENST00000223293.10|NM_015660.3" +HGNC:30975 GIMAP3P GTPase, IMAP family member 3 pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 "GIMAP3|IAN4P" immune-associated nucleotide-binding protein 4 pseudogene GTPases, IMAP 580 2004-10-29 2015-09-10 474345 ENSG00000177590 OTTHUMG00000158113 AJ580951 NG_026525 15474311 PGOHUM00000302489 HGNC:30975 +HGNC:21872 GIMAP4 GTPase, IMAP family member 4 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HIMAP4|FLJ11110|IMAP4|IAN1" immune-associated nucleotide-binding protein 1 GTPases, IMAP 580 2004-10-29 2015-08-25 55303 ENSG00000133574 OTTHUMG00000157475 uc003whl.4 AK001972 NM_018326 "CCDS5904|CCDS87564" Q9NUV9 "15474311|18701445" MGI:1349656 RGD:628765 608087 HGNC:21872 "ENST00000255945.4|NM_018326.3" +HGNC:18005 GIMAP5 GTPase, IMAP family member 5 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HIMAP3|IAN5" immune-associated nucleotide-binding protein 5 IAN4L1 immune associated nucleotide 4 like 1 (mouse) GTPases, IMAP 580 2002-01-16 2004-10-30 2004-10-29 2015-09-10 55340 ENSG00000196329 OTTHUMG00000157542 uc064jdz.2 AK002158 NM_018384 CCDS5907 Q96F15 MGI:2442232 RGD:628871 608086 HGNC:18005 "ENST00000358647.5|NM_018384.5" +HGNC:21918 GIMAP6 GTPase, IMAP family member 6 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "FLJ22690|IAN6" immune-associated nucleotide-binding protein 6 GTPases, IMAP 580 2004-10-29 2014-11-19 474344 ENSG00000133561 OTTHUMG00000159137 uc003whn.4 AK026343 NM_024711 "CCDS34778|CCDS75676|CCDS59087" Q6P9H5 15474311 MGI:1918876 RGD:1305041 616960 HGNC:21918 "ENST00000328902.9|NM_024711.6" +HGNC:22404 GIMAP7 GTPase, IMAP family member 7 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "MGC27027|IAN7" immune-associated nucleotide-binding protein 7 GTPases, IMAP 580 2004-10-29 2015-09-10 168537 ENSG00000179144 OTTHUMG00000157626 uc003whk.4 BC027613 NM_153236 CCDS5903 Q8NHV1 15474311 MGI:1349657 RGD:1565750 616961 HGNC:22404 "ENST00000313543.5|NM_153236.4" +HGNC:21792 GIMAP8 GTPase, IMAP family member 8 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "DKFZp667I133|hIAN6|IAN9" immune-associated nucleotide-binding protein 9 GTPases, IMAP 580 2004-10-29 2015-08-25 155038 ENSG00000171115 OTTHUMG00000158327 uc003whj.4 AL834361 NM_175571 CCDS34777 Q8ND71 15474311 MGI:2685303 RGD:1564570 616962 HGNC:21792 "ENST00000307271.4|NM_175571.4" +HGNC:44141 GIMD1 GIMAP family P-loop NTPase domain containing 1 protein-coding gene gene with protein product Approved 4q24 04q24 2012-07-02 2012-07-02 2015-09-10 100507096 ENSG00000250298 OTTHUMG00000161071 uc062yvh.1 DN831977 NM_001195138 CCDS82942 P0DJR0 MGI:3647547 RGD:1563706 HGNC:44141 "ENST00000638719.4|NM_001195138.2" +HGNC:25959 GIN1 gypsy retrotransposon integrase 1 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "FLJ20125|GIN-1|TGIN1" "gypsy integrase 1|Ty3/Gypsy integrase 1" ZH2C2 zinc finger, H2C2 domain containing 2006-12-21 2007-06-13 2007-06-13 2016-10-25 54826 ENSG00000145723 OTTHUMG00000162811 uc003koa.2 BC015325 NM_017676 CCDS43349 Q9NXP7 11470852 MGI:2182036 RGD:1307449 HGNC:25959 "ENST00000399004.7|NM_017676.2" +HGNC:21074 GINM1 glycosylated integral membrane protein 1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 dJ12G14.2 C6orf72 "chromosome 6 open reading frame 72|glycoprotein integral membrane 1" 2003-11-26 2012-07-20 2022-03-30 2022-03-30 116254 ENSG00000055211 OTTHUMG00000015789 uc003qmq.2 BC014320 NM_138785 CCDS5216 Q9NU53 MGI:2384905 RGD:1309759 HGNC:21074 "ENST00000367419.10|NM_138785.5" +HGNC:28980 GINS1 GINS complex subunit 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "KIAA0186|PSF1" GINS complex subunit 1 (Psf1 homolog) GINS complex 931 2006-05-04 2016-03-21 2016-03-21 9837 ENSG00000101003 OTTHUMG00000032124 uc002wuv.2 BC012542 NM_021067 CCDS33451 Q14691 "8724849|8786132" MGI:1916520 RGD:1562246 610608 470380 HGNC:28980 "ENST00000262460.5|NM_021067.5" HGNC:28980 +HGNC:24575 GINS2 GINS complex subunit 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "PSF2|Pfs2" GINS complex subunit 2 (Psf2 homolog) GINS complex 931 2006-05-04 2016-03-21 2016-03-21 51659 ENSG00000131153 OTTHUMG00000137646 uc002fja.4 BC003186 NM_016095 CCDS10953 Q9Y248 "11042152|10810093" MGI:1921019 RGD:1311055 610609 HGNC:24575 "ENST00000253462.8|NM_016095.3" +HGNC:25851 GINS3 GINS complex subunit 3 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ13912|PSF3" GINS complex subunit 3 (Psf3 homolog) GINS complex 931 2006-05-04 2016-03-21 2018-06-04 64785 ENSG00000181938 OTTHUMG00000133486 uc002enh.4 BC005879 NM_022770 "CCDS45498|CCDS45499|CCDS10796" Q9BRX5 17417653 MGI:1926083 RGD:1308153 610610 HGNC:25851 "ENST00000318129.6|NM_022770.4" +HGNC:28226 GINS4 GINS complex subunit 4 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "MGC14799|SLD5" GINS complex subunit 4 (Sld5 homolog) GINS complex 931 2006-05-04 2016-03-21 2016-03-21 84296 ENSG00000147536 OTTHUMG00000164079 uc003xnx.3 BC005995 NM_032336 CCDS6116 Q9BRT9 20070258 MGI:1923847 RGD:1307397 610611 HGNC:28226 "ENST00000276533.4|NM_032336.3" +HGNC:4270 GIP gastric inhibitory polypeptide protein-coding gene gene with protein product Approved 17q21.32 17q21.32 glucose-dependent insulinotropic polypeptide Neuropeptides 1902 1988-07-25 2016-10-05 2695 ENSG00000159224 OTTHUMG00000161171 uc002iol.2 NM_004123 CCDS11542 P09681 2739653 MGI:107504 RGD:2709 137240 ligandId:3542 HGNC:4270 "ENST00000357424.2|NM_004123.3" +HGNC:1226 GIPC1 GIPC PDZ domain containing family member 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "TIP-2|Hs.6454|GIPC|SEMCAP|GLUT1CBP|SYNECTIN|NIP" "C19orf3|RGS19IP1" "chromosome 19 open reading frame 3|regulator of G-protein signalling 19 interacting protein 1|GIPC PDZ domain containing family, member 1" PDZ domain containing 1220 1998-12-01 2005-06-28 2015-11-18 2020-09-17 10755 ENSG00000123159 OTTHUMG00000182248 uc002myt.5 AF089816 NM_005716 "CCDS12311|CCDS12310" O14908 "9770488|9482110" MGI:1926252 RGD:68338 605072 HGNC:1226 "ENST00000393033.9|NM_005716.4" HGNC:1226 +HGNC:18177 GIPC2 GIPC PDZ domain containing family member 2 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "FLJ20075|SEMCAP-2" semaphorin cytoplasmic domain associated protein 2 GIPC PDZ domain containing family, member 2 PDZ domain containing 1220 2005-06-28 2015-11-18 2015-11-18 54810 ENSG00000137960 OTTHUMG00000041145 uc001dik.4 AB073737 NM_017655 CCDS685 Q8TF65 11836570 MGI:1889209 RGD:1560751 619089 HGNC:18177 "ENST00000370759.4|NM_017655.6" +HGNC:18183 GIPC3 GIPC PDZ domain containing family member 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 DFNB95 "C19orf64|DFNB72|DFNB15" "chromosome 19 open reading frame 64|deafness, autosomal recessive 72|deafness, autosomal recessive 15|GIPC PDZ domain containing family, member 3" PDZ domain containing 1220 2005-06-28 2015-11-18 2021-05-26 126326 ENSG00000179855 OTTHUMG00000167425 uc002lyd.5 AB073738 NM_133261 CCDS32871 Q8TF64 "11836571|21326233" MGI:2387006 RGD:1563255 608792 270208 HGNC:18183 "ENST00000644452.3|NM_133261.3" HGNC:18183 +HGNC:4271 GIPR gastric inhibitory polypeptide receptor protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "Glucagon receptor family|MicroRNA protein coding host genes" "269|1691" 1994-04-28 2016-01-15 2696 ENSG00000010310 OTTHUMG00000182129 uc002pcu.2 NM_000164 "CCDS12671|CCDS82367" P48546 7490109 MGI:1352753 RGD:2689 137241 objectId:248 HGNC:4271 "ENST00000590918.6|NM_000164.4" +HGNC:4272 GIT1 GIT ArfGAP 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "G protein-coupled receptor kinase interactor 1|G protein-coupled receptor kinase interacting ArfGAP 1" "ArfGAPs|Ankyrin repeat domain containing" "395|403" 2000-07-31 2016-03-14 2016-10-05 28964 ENSG00000108262 OTTHUMG00000132730 uc002hef.3 AF124490 NM_014030 "CCDS42290|CCDS11250" Q9Y2X7 "9826657|10896954" MGI:1927140 RGD:69331 608434 HGNC:4272 "ENST00000225394.8|NM_014030.4" +HGNC:4273 GIT2 GIT ArfGAP 2 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "KIAA0148|PKL" Paxillin kinase linker "G protein-coupled receptor kinase interactor 2|G protein-coupled receptor kinase interacting ArfGAP 2" "ArfGAPs|Ankyrin repeat domain containing" "395|403" 2000-07-31 2016-03-14 2016-10-05 9815 ENSG00000139436 OTTHUMG00000169313 uc001tps.3 AF124491 NM_057169 "CCDS44968|CCDS9139|CCDS44969|CCDS55884|CCDS81737|CCDS81736|CCDS9138" Q14161 "9826657|10896954" MGI:1347053 RGD:1359708 608564 HGNC:4273 "ENST00000355312.8|NM_057169.5" +HGNC:4274 GJA1 gap junction protein alpha 1 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "CX43|ODD|ODOD|SDTY3" "oculodentodigital dysplasia (syndactyly type III)|connexin 43" "ODDD|GJAL" "gap junction protein, alpha-like|gap junction protein, alpha 1, 43kDa (connexin 43)|gap junction protein, alpha 1, 43kDa" Gap junction proteins 314 1990-08-03 2015-11-09 2021-05-26 2697 ENSG00000152661 OTTHUMG00000015479 uc003pyr.4 BC026329 NM_000165 CCDS5123 P17302 "10331943|1646158" MGI:95713 RGD:2690 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|LRG_1289|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1289.xml" 121014 122102 objectId:728 HGNC:4274 "ENST00000282561.4|NM_000165.5" HGNC:4274 +HGNC:4275 GJA1P1 gap junction protein alpha 1 pseudogene 1 pseudogene pseudogene Approved 5q21.3 05q21.3 "gap junction protein, alpha 1, 43kD (connexin 43) pseudogene 1|gap junction protein, alpha 1, 43kDa (connexin 43) pseudogene 1|gap junction protein, alpha 1, 43kDa pseudogene 1" 1991-01-30 2015-11-09 2015-11-09 2698 ENSG00000176857 OTTHUMG00000162850 M65189 NG_003029 "1646158|11741837" PGOHUM00000251326 HGNC:4275 +HGNC:4277 GJA3 gap junction protein alpha 3 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 CX46 connexin 46 CZP3 "gap junction protein, alpha 3, 46kD (connexin 46)|gap junction protein, alpha 3, 46kDa (connexin 46)|gap junction protein, alpha 3, 46kDa" Gap junction proteins 314 1990-02-12 2015-11-09 2021-05-26 2700 ENSG00000121743 OTTHUMG00000016510 uc001umx.2 AF075290 NM_021954 CCDS9289 Q9Y6H8 "10205266|7342922" MGI:95714 RGD:621820 121015 122114 objectId:730 HGNC:4277 "ENST00000241125.4|NM_021954.4" HGNC:4277 +HGNC:4278 GJA4 gap junction protein alpha 4 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 CX37 connexin 37 "gap junction protein, alpha 4, 37kD (connexin 37)|gap junction protein, alpha 4, 37kDa (connexin 37)|gap junction protein, alpha 4, 37kDa" Gap junction proteins 314 1991-07-11 2015-11-09 2016-10-05 2701 ENSG00000187513 OTTHUMG00000004050 uc001bya.3 M96789 NM_002060 CCDS30669 P35212 "9843209|7680674" MGI:95715 RGD:2691 121012 470382 objectId:725 HGNC:4278 "ENST00000342280.5|NM_002060.3" +HGNC:4279 GJA5 gap junction protein alpha 5 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 CX40 connexin 40 "gap junction protein, alpha 5, 40kD (connexin 40)|gap junction protein, alpha 5, 40kDa (connexin 40)|gap junction protein, alpha 5, 40kDa" Gap junction proteins 314 1991-07-11 2015-11-09 2021-05-26 2702 ENSG00000265107 OTTHUMG00000014020 uc031uum.2 NM_181703 CCDS929 P36382 MGI:95716 RGD:2692 121013 138503 objectId:726 HGNC:4279 "ENST00000579774.3|NM_181703.4" HGNC:4279 +HGNC:32542 GJA6P gap junction protein alpha 6, pseudogene pseudogene pseudogene Approved Xp22.13 Xp22.13 gap junction protein, alpha 6, pseudogene Gap junction proteins 314 2007-11-27 2019-03-26 2019-03-26 100126825 ENSG00000236187 OTTHUMG00000021215 NG_007152 15611570 MGI:95717 PGOHUM00000241658 HGNC:32542 +HGNC:4281 GJA8 gap junction protein alpha 8 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 CX50 connexin 50 "CAE1|CZP1|CAE" "gap junction protein, alpha 8, 50kD (connexin 50)|gap junction protein, alpha 8, 50kDa (connexin 50)|gap junction protein, alpha 8, 50kDa" Gap junction proteins 314 1995-11-29 2015-11-09 2021-05-26 2703 ENSG00000121634 OTTHUMG00000024085 uc057kfk.1 U34802 NM_005267 CCDS30834 P48165 "9497259|7796604" MGI:99953 RGD:628890 600897 122118 objectId:732 HGNC:4281 "ENST00000369235.2|NM_005267.5" HGNC:4281 +HGNC:19155 GJA9 gap junction protein alpha 9 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "CX59|CX58" connexin 59 GJA10 "gap junction protein, alpha 10, 59kDa|gap junction protein, alpha 9, 59kDa" Gap junction proteins 314 2002-09-05 2007-11-06 2015-11-09 2021-05-26 81025 ENSG00000131233 OTTHUMG00000000482 uc057ezp.1 AF179597 NM_030772 CCDS432 P57773 611923 objectId:733 HGNC:19155 "ENST00000357771.5|NM_030772.5" +HGNC:16995 GJA10 gap junction protein alpha 10 protein-coding gene gene with protein product Approved 6q15 06q15 CX62 connexin 62 gap junction protein, alpha 10, 62kDa Gap junction proteins 314 2007-11-06 2015-11-09 2015-11-09 84694 ENSG00000135355 OTTHUMG00000015210 uc011eaa.3 AF296766 NM_032602 CCDS5025 Q969M2 MGI:1339969 RGD:1309630 611924 objectId:734 HGNC:16995 "ENST00000369352.1|NM_032602.2" +HGNC:4283 GJB1 gap junction protein beta 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 CX32 "Charcot-Marie-Tooth neuropathy, X-linked|connexin 32" "CMTX1|CMTX" "gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)|gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)|gap junction protein, beta 1, 32kDa (connexin 32)|gap junction protein, beta 1, 32kDa" Gap junction proteins 314 1990-02-12 2015-11-09 2021-05-26 2705 ENSG00000169562 OTTHUMG00000021797 uc004dzf.4 X04325 NM_000166 CCDS14408 P08034 1319395 MGI:95719 RGD:61926 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LOVD GJB1 homepage|https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=GJB1|LRG_245|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_245.xml" 304040 122124 objectId:723 HGNC:4283 "ENST00000361726.7|NM_000166.6" HGNC:4283 +HGNC:4284 GJB2 gap junction protein beta 2 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "CX26|NSRD1" connexin 26 "DFNB1|DFNA3" "gap junction protein, beta 2, 26kD (connexin 26)|gap junction protein, beta 2, 26kDa (connexin 26)|gap junction protein, beta 2, 26kDa" Gap junction proteins 314 1990-02-12 2015-11-09 2021-05-26 2706 ENSG00000165474 OTTHUMG00000016513 uc001umy.4 M86849 NM_004004 CCDS9290 P29033 9139825 MGI:95720 RGD:728891 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|The Connexin-deafness homepage|http://davinci.crg.es/deafness/|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=GJB2|LRG_1350|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1350.xml" 121011 122129 objectId:716 HGNC:4284 "ENST00000382848.5|NM_004004.6" HGNC:4284 +HGNC:4285 GJB3 gap junction protein beta 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 CX31 connexin 31 "DFNA2|EKV" "gap junction protein, beta 3, 31kD (connexin 31)|gap junction protein, beta 3, 31kDa (connexin 31)|erythrokeratodermia variabilis|gap junction protein, beta 3, 31kDa" Gap junction proteins 314 1991-07-12 2015-11-09 2021-05-26 2707 ENSG00000188910 OTTHUMG00000004051 uc001bxx.4 BC012918 NM_024009 CCDS384 O75712 "9843210|9704026" MGI:95721 RGD:2695 "The Connexin-deafness homepage|http://davinci.crg.es/deafness/|Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/" 603324 122135 objectId:720 HGNC:4285 "ENST00000373366.3|NM_024009.3" HGNC:4285 +HGNC:4286 GJB4 gap junction protein beta 4 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 CX30.3 connexin 30.3 "gap junction protein, beta 4 (connexin 30.3)|gap junction protein, beta 4|gap junction protein, beta 4, 30.3kDa" Gap junction proteins 314 1998-08-06 2015-11-09 2021-05-26 127534 ENSG00000189433 OTTHUMG00000004052 uc001bxv.1 NM_153212 CCDS383 Q9NTQ9 MGI:95722 RGD:621829 LRG_1331|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1331.xml 605425 122139 objectId:719 HGNC:4286 "ENST00000339480.3|NM_153212.3" HGNC:4286 +HGNC:4287 GJB5 gap junction protein beta 5 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 CX31.1 connexin 31.1 "gap junction protein, beta 5 (connexin 31.1)|gap junction protein, beta 5|gap junction protein, beta 5, 31.1kDa" Gap junction proteins 314 1998-08-06 2015-11-09 2015-11-09 2709 ENSG00000189280 OTTHUMG00000004053 uc001bxu.4 BC004379 NM_005268 CCDS382 O95377 9843209 MGI:95723 RGD:2696 604493 objectId:721 HGNC:4287 "ENST00000338513.1|NM_005268.4" +HGNC:4288 GJB6 gap junction protein beta 6 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "EDH|HED|CX30" connexin 30 "DFNA3|ED2" "ectodermal dysplasia 2, hidrotic (Clouston syndrome)|gap junction protein, beta 6 (connexin 30)|gap junction protein, beta 6|gap junction protein, beta 6, 30kDa" Gap junction proteins 314 1999-07-30 2015-11-09 2021-05-26 10804 ENSG00000121742 OTTHUMG00000016515 uc001unc.5 AJ005585 NM_001110219 CCDS9291 O95452 "10471490|8845850" MGI:107588 RGD:621830 "The Connexin-deafness homepage|http://davinci.crg.es/deafness/|Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=GJB6|LRG_1395|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1395.xml" 604418 122142 objectId:717 HGNC:4288 "ENST00000647029.1|NM_001110219.3" HGNC:4288 +HGNC:16690 GJB7 gap junction protein beta 7 protein-coding gene gene with protein product Approved 6q14.3-q15 06q14.3-q15 "CX25|bA136M9.1" connexin 25 "gap junction protein, beta 7|gap junction protein, beta 7, 25kDa" Gap junction proteins 314 2003-11-26 2015-11-09 2018-02-13 375519 ENSG00000164411 OTTHUMG00000015166 uc003plo.3 AJ414563 NM_198568 CCDS5008 Q6PEY0 611921 objectId:715 HGNC:16690 "ENST00000525899.6|NM_198568.3" +HGNC:4280 GJC1 gap junction protein gamma 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 CX45 connexin 45 GJA7 "gap junction protein, alpha 7, 45kDa|gap junction protein, gamma 1, 45kDa" Gap junction proteins 314 1999-07-30 2007-11-06 2015-11-09 2019-08-21 10052 ENSG00000182963 OTTHUMG00000179861 uc060gbz.1 U03493 NM_005497 CCDS11487 P36383 7966354 MGI:95718 RGD:628889 608655 objectId:729 HGNC:4280 "ENST00000592524.6|NM_005497.4" +HGNC:17494 GJC2 gap junction protein gamma 2 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "CX47|CX46.6|SPG44" connexin 47 GJA12 "gap junction protein, alpha 12, 47kDa|gap junction protein, gamma 2, 47kDa" Gap junction proteins 314 2002-09-05 2007-11-06 2015-11-09 2021-05-26 57165 ENSG00000198835 OTTHUMG00000039771 uc001hsk.4 AF014643 NM_020435 CCDS1569 Q5T442 19056803 MGI:2153060 RGD:1562712 608803 122110 objectId:731 HGNC:17494 "ENST00000366714.3|NM_020435.4" HGNC:17494 +HGNC:17495 GJC3 gap junction protein gamma 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 CX30.2 connexin 30.2 GJE1 "gap junction protein, epsilon 1, 29kDa|gap junction protein, gamma 3, 30.2kDa" Gap junction proteins 314 2004-04-21 2007-11-06 2015-11-09 2015-11-09 349149 ENSG00000176402 OTTHUMG00000156649 uc011kjd.2 AF503615 NM_181538 CCDS34697 Q8NFK1 MGI:2153041 RGD:727930 611925 objectId:718 HGNC:17495 "ENST00000312891.3|NM_181538.3" +HGNC:19154 GJD2 gap junction protein delta 2 protein-coding gene gene with protein product Approved 15q14 15q14 CX36 connexin 36 GJA9 "gap junction protein, alpha 9, 36kDa|gap junction protein, delta 2, 36kDa" Gap junction proteins 314 2007-01-16 2007-11-06 2015-11-09 2016-10-05 57369 ENSG00000159248 OTTHUMG00000129674 uc001zis.3 AB037509 NM_020660 CCDS10040 Q9UKL4 10462698 MGI:1334209 RGD:2694 607058 objectId:724 HGNC:19154 "ENST00000290374.5|NM_020660.3" +HGNC:55560 GJD2-DT GJD2 divergent transcript non-coding RNA RNA, long non-coding Approved 15q14 15q14 Divergent transcripts 1990 2021-04-08 2021-04-08 101928174 ENSG00000250007 NR_120329 +HGNC:19147 GJD3 gap junction protein delta 3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "CX31.9|GJA11|Cx30.2" connexin 31.9 GJC1 "gap junction protein, chi 1, 31.9kDa|gap junction protein, delta 3, 31.9kDa" Gap junction proteins 314 2002-08-29 2007-11-06 2015-11-09 2017-08-14 125111 ENSG00000183153 OTTHUMG00000179634 uc010cwz.4 AF514298 NM_152219 CCDS58547 Q8N144 12176752 MGI:2384150 RGD:1308942 607425 objectId:722 HGNC:19147 "ENST00000578689.2|NM_152219.4" +HGNC:56092 GJD3-AS1 GJD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Antisense RNAs 1987 2021-12-20 2021-12-20 123706509 ENSG00000266208 +HGNC:23296 GJD4 gap junction protein delta 4 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "CX40.1|FLJ90023" connexin 40.1 gap junction protein, delta 4, 40.1kDa Gap junction proteins 314 2007-11-06 2015-11-09 2016-10-05 219770 ENSG00000177291 OTTHUMG00000017957 uc001iyy.1 AJ414564 NM_153368 CCDS7191 Q96KN9 12881038 MGI:2444990 RGD:628621 611922 objectId:727 HGNC:23296 "ENST00000321660.2|NM_153368.3" +HGNC:33251 GJE1 gap junction protein epsilon 1 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 CX23 gap junction protein, epsilon 1, 23kDa Gap junction proteins 314 2007-11-06 2015-11-09 2017-11-30 100126572 ENSG00000203733 OTTHUMG00000015706 uc063rxt.1 NM_001358410 CCDS87449 A6NN92 18849090 MGI:1923993 RGD:1598009 objectId:714 HGNC:33251 +HGNC:4289 GK glycerol kinase protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 "GK1|GKD" Glycerol kinases 568 1986-01-01 2021-04-13 2710 ENSG00000198814 OTTHUMG00000021328 uc010ngj.4 X78711 NM_000167 "CCDS48090|CCDS75963|CCDS14225|CCDS35224" P32189 7987308 MGI:106594 RGD:70893 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=GK|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GK|LRG_848|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_848.xml" 300474 122149 2.7.1.30 HGNC:4289 "ENST00000427190.6|NM_001205019.2" HGNC:4289 +HGNC:40255 GK-AS1 GK antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp21.2 Xp21.2 GK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100873902 ENSG00000243055 OTTHUMG00000159434 uc064yll.1 NR_046603 GK-AS1 +HGNC:41339 GK-IT1 GK intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xp21.2 Xp21.2 GK intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-08-10 2015-02-25 2015-02-25 106480740 ENSG00000229331 OTTHUMG00000021324 uc064ylh.1 GK-IT1 +HGNC:4291 GK2 glycerol kinase 2 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 GKTA GKP2 glycerol kinase pseudogene 2 Glycerol kinases 568 1994-12-14 2002-10-04 2002-10-03 2016-10-05 2712 ENSG00000196475 OTTHUMG00000130199 uc003hlu.4 BC029820 NM_033214 CCDS3585 Q14410 7987308 MGI:1329027 RGD:1303263 600148 HGNC:4291 "ENST00000358842.5|NM_033214.3" HGNC:4291 +HGNC:4292 GK3P glycerol kinase 3 pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 GKTB GKP3 glycerol kinase pseudogene 3 Glycerol kinases 568 1994-12-14 2006-09-21 2006-09-21 2016-10-05 2713 ENSG00000229894 OTTHUMG00000161293 BC066960 NG_000861 Q14409 7987308 600149 HGNC:4292 +HGNC:4295 GK4P glycerol kinase 4 pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 GKP6 glycerol kinase pseudogene 6 Glycerol kinases 568 1994-12-14 2006-09-21 2006-09-21 2020-04-07 2716 ENSG00000178146 OTTHUMG00000022041 X78714 NG_001127 7987308 PGOHUM00000304783 HGNC:4295 +HGNC:28635 GK5 glycerol kinase 5 protein-coding gene gene with protein product Approved 3q23 03q23 MGC40579 glycerol kinase 5 (putative) Glycerol kinases 568 2006-09-21 2018-05-04 2019-02-21 256356 ENSG00000175066 OTTHUMG00000133572 uc003euq.2 BX648681 NM_001039547 CCDS33871 Q6ZS86 28607088 MGI:2443336 RGD:1311223 HGNC:28635 "ENST00000392993.7|NM_001039547.3" +HGNC:23263 GK6P glycerol kinase 6 pseudogene pseudogene pseudogene Approved 4q26 04q26 "GK7P|GKP1" "glycerol kinase 7 pseudogene|glycerol kinase pseudogene 1" Glycerol kinases 568 2006-09-21 2006-09-21 2017-03-10 201989 NG_004742 HGNC:23263 +HGNC:17496 GKAP1 G kinase anchoring protein 1 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "GKAP42|FKSG21" cGMP-dependent protein kinase anchoring protein 42kDa 2004-05-19 2016-10-05 80318 ENSG00000165113 OTTHUMG00000020106 uc004amy.4 BC014476 NM_025211 "CCDS47988|CCDS35049" Q5VSY0 MGI:1891694 RGD:1306955 611356 HGNC:17496 "ENST00000376371.7|NM_025211.4" +HGNC:23217 GKN1 gastrokine 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "AMP18|CA11|BRICD1" BRICHOS domain containing 1 BRICHOS domain containing 457 2003-10-24 2014-11-18 56287 ENSG00000169605 OTTHUMG00000129574 uc002sfc.4 AY139182 NM_019617 CCDS1891 Q9NS71 "12851218|11562744" MGI:1913533 RGD:735014 606402 HGNC:23217 "ENST00000377938.4|NM_019617.4" +HGNC:24588 GKN2 gastrokine 2 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "TFIZ1|PRO813|VLTI465|blottin|GDDR|BRICD1B" "down regulated in gastric cancer GDDR|BRICHOS domain containing 1B" BRICHOS domain containing 457 2007-01-29 2016-10-05 200504 ENSG00000183607 OTTHUMG00000152655 uc002sfa.3 AF494509 NM_182536 CCDS33215 Q86XP6 "15774165|15924415|16888721" MGI:1913534 RGD:1311934 618589 HGNC:24588 "ENST00000328895.9|NM_182536.3" +HGNC:37701 GKN3P gastrokine 3, pseudogene pseudogene pseudogene Approved 2p13.3 02p13.3 2010-01-21 2020-03-24 100132413 ENSG00000283586 OTTHUMG00000191776 NG_016576 P0CG01 20138039 MGI:1916138 RGD:1597754 HGNC:37701 +HGNC:4296 GLA galactosidase alpha protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 GALA Galactosidases alpha 1655 2001-06-22 2015-11-18 2021-04-13 2717 ENSG00000102393 OTTHUMG00000022026 uc004ehl.2 X16889 NM_000169 CCDS14484 P06280 "6323102|3014515" MGI:1347344 RGD:1589721 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLA|LRG_672|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_672.xml" 300644 122153 3.2.1.22 HGNC:4296 "ENST00000218516.4|NM_000169.3" HGNC:4296 +HGNC:4298 GLB1 galactosidase beta 1 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 EBP elastin binding protein ELNR1 "elastin receptor 1, 67kDa|elastin receptor 1 (67kD)|galactosidase, beta 1" Galactosidases beta 1654 2001-06-22 2015-11-05 2021-05-26 2720 ENSG00000170266 OTTHUMG00000155781 uc003cfi.2 M22590 NM_000404 "CCDS43061|CCDS46785|CCDS43062" P16278 "110522|3143362" MGI:88151 RGD:1597145 611458 122156 3.2.1.23 HGNC:4298 "ENST00000307363.10|NM_000404.4" HGNC:4298 +HGNC:28129 GLB1L galactosidase beta 1 like protein-coding gene gene with protein product Approved 2q35 02q35 MGC10771 galactosidase, beta 1-like Galactosidases beta 1654 2004-01-13 2015-11-12 2016-10-05 79411 ENSG00000163521 OTTHUMG00000133133 uc002vkn.5 NM_024506 "CCDS74657|CCDS2437" Q6UWU2 12975309 MGI:1921827 RGD:1309474 HGNC:28129 "ENST00000295759.12|NM_001286423.2" +HGNC:25129 GLB1L2 galactosidase beta 1 like 2 protein-coding gene gene with protein product Approved 11q25 11q25 galactosidase, beta 1-like 2 Galactosidases beta 1654 2008-01-29 2015-11-12 2015-11-12 89944 ENSG00000149328 OTTHUMG00000167179 uc001qhp.3 NM_138342 CCDS31724 Q8IW92 12975309 MGI:2388283 RGD:1564436 HGNC:25129 "ENST00000535456.7|NM_001370461.1" +HGNC:25147 GLB1L3 galactosidase beta 1 like 3 protein-coding gene gene with protein product Approved 11q25 11q25 FLJ90231 "galactosidase, beta 1-like 3|galactosidase beta 1-like 3" Galactosidases beta 1654 2006-07-04 2015-11-12 2019-02-21 112937 ENSG00000166105 OTTHUMG00000133524 uc009zdf.4 NM_138416 CCDS44780 Q8NCI6 21633714 MGI:1918143 RGD:1561462 HGNC:25147 "ENST00000431683.7|NM_001080407.3" +HGNC:18713 GLCCI1 glucocorticoid induced 1 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "GIG18|FAM117C|TSSN1" glucocorticoid induced transcript 1 2002-06-11 2015-02-16 2016-10-05 113263 ENSG00000106415 OTTHUMG00000151984 uc003srk.5 BC050291 NM_138426 CCDS34601 Q86VQ1 MGI:2179717 RGD:1563612 614283 HGNC:18713 "ENST00000223145.10|NM_138426.4" +HGNC:40852 GLCCI1-DT GLCCI1 divergent transcript non-coding RNA RNA, long non-coding Approved 7p21.3 07p21.3 Divergent transcripts 1990 2019-08-02 2019-08-02 100505921 ENSG00000233108 OTTHUMG00000152017 NR_110018 HGNC:40852 +HGNC:17855 GLCE glucuronic acid epimerase protein-coding gene gene with protein product Approved 15q23 15q23 "KIAA0836|HSEPI" heparan sulfate epimerase "D-glucuronyl C5-epimerase|UDP-glucuronic acid epimerase" 2006-06-13 2007-01-30 2020-04-01 26035 ENSG00000138604 OTTHUMG00000172084 uc002ary.2 AB020643 NM_015554 CCDS32277 O94923 15853773 MGI:2136405 RGD:1565253 612134 5.1.3.12 HGNC:17855 "ENST00000261858.7|NM_015554.3" +HGNC:4313 GLDC glycine decarboxylase protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "GCSP|NKH" "glycine cleavage system protein P|glycine dehydrogenase|nonketotic hyperglycinemia" "glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)|glycine dehydrogenase (decarboxylating)" 1992-04-08 2016-03-15 2021-05-26 2731 ENSG00000178445 OTTHUMG00000019524 uc003zkc.4 D90239 NM_000170 CCDS34987 P23378 "1993704|1996985" MGI:1341155 RGD:1308660 LRG_643|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_643.xml 238300 122160 1.4.4.2 HGNC:4313 "ENST00000321612.8|NM_000170.3" HGNC:4313 +HGNC:4314 GLDCP1 glycine decarboxylase pseudogene 1 pseudogene pseudogene Approved 4q12 04q12 GLDCP "glycine dehydrogenase (decarboxylase) pseudogene|glycine dehydrogenase (decarboxylase) pseudogene 1" 1994-12-09 2010-01-19 2016-06-27 2016-06-27 2732 ENSG00000248590 OTTHUMG00000160768 NG_003012 "7945295|2268343" PGOHUM00000245917 HGNC:4314 +HGNC:29514 GLDN gliomedin protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "CRG-L2|CLOM|colmedin|UNC-122" COLM collomin 2004-05-18 2005-10-06 2005-10-06 2021-05-26 342035 ENSG00000186417 OTTHUMG00000131746 uc002aba.4 AY358144 NM_181789 "CCDS81882|CCDS10140" Q6ZMI3 "16039564|12642876" MGI:2388361 RGD:727879 608603 HGNC:29514 "ENST00000335449.11|NM_181789.4" HGNC:29514 +HGNC:4315 GLE1 GLE1 RNA export mediator protein-coding gene gene with protein product Approved 9q34.11 09q34.11 hGLE1 "GLE1L|LCCS1" "GLE1 (yeast homolog)-like, RNA export mediator|GLE1 RNA export mediator-like (yeast)|GLE1 RNA export mediator (yeast)|lethal congenital contracture syndrome 1|GLE1 RNA export mediator homolog (yeast)|GLE1, RNA export mediator" Nucleoporins 1051 1998-06-18 2007-10-04 2019-01-25 2021-05-26 2733 ENSG00000119392 OTTHUMG00000020749 uc004bvj.4 AF058922 NM_001003722 "CCDS35154|CCDS6904" Q53GS7 "9618489|18204449" MGI:1921662 RGD:1307329 LRG_484|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_484.xml 603371 160257 HGNC:4315 "ENST00000309971.9|NM_001003722.2" HGNC:4315 +HGNC:4316 GLG1 golgi glycoprotein 1 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "MG-160|ESL-1|CFR-1" golgi apparatus protein 1 1995-09-11 2010-02-12 2016-01-15 2734 ENSG00000090863 OTTHUMG00000177174 uc002fcx.4 NM_012201 "CCDS45526|CCDS32485|CCDS45527" Q92896 "8530051|7531823" MGI:104967 RGD:69345 600753 HGNC:4316 "ENST00000422840.7|NM_001145667.2" +HGNC:4317 GLI1 GLI family zinc finger 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 GLI "glioma-associated oncogene homolog 1 (zinc finger protein)|glioma-associated oncogene family zinc finger 1" Zinc fingers C2H2-type 28 1986-01-01 2005-01-14 2009-03-05 2021-05-26 2735 ENSG00000111087 OTTHUMG00000167332 uc001snx.4 NM_005269 "CCDS8940|CCDS53806|CCDS53807" P08151 2850480 MGI:95727 RGD:621673 165220 HGNC:4317 "ENST00000228682.7|NM_005269.3" HGNC:4317 +HGNC:4318 GLI2 GLI family zinc finger 2 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "THP2|HPE9|THP1" "tax-responsive element-2 holding protein|tax helper protein 1|tax helper protein 2" "GLI-Kruppel family member GLI2|glioma-associated oncogene family zinc finger 2" Zinc fingers C2H2-type 28 1989-05-25 2009-03-05 2021-05-26 2736 ENSG00000074047 OTTHUMG00000153741 uc010flp.4 NM_005270 CCDS33283 P10070 "2850480|9557682" MGI:95728 RGD:1309270 165230 138516 HGNC:4318 "ENST00000361492.9|NM_001374353.1" HGNC:4318 +HGNC:4319 GLI3 GLI family zinc finger 3 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "PAP-A|PAPA|PAPA1|PAPB|ACLS|PPDIV" "zinc finger protein GLI3|oncogene GLI3|DNA-binding protein" "GCPS|PHS" "Greig cephalopolysyndactyly syndrome|GLI-Kruppel family member GLI3|glioma-associated oncogene family zinc finger 3" Zinc fingers C2H2-type 28 1989-05-29 2009-03-05 2021-05-26 2737 ENSG00000106571 OTTHUMG00000023630 uc011kbh.3 NM_000168 CCDS5465 P10071 2118997 MGI:95729 RGD:620272 165240 122167 HGNC:4319 "ENST00000395925.8|NM_000168.6" HGNC:4319 +HGNC:4320 GLI4 GLI family zinc finger 4 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "HKR4|ZNF928" "GLI-Kruppel family member GLI4|glioma-associated oncogene family zinc finger 4" Zinc fingers C2H2-type 28 1989-05-29 2009-03-05 2021-04-27 2738 ENSG00000250571 OTTHUMG00000164952 uc003yxx.4 NM_138465 CCDS6398 P10075 2850480 RGD:1560906 165280 HGNC:4320 "ENST00000340042.2|NM_138465.4" +HGNC:48823 GLIDR glioblastoma down-regulated RNA non-coding RNA RNA, long non-coding Approved 9p12 09p12 "MGC21881|TCONS_00015562|FAM88A" family with sequence similarity 88 member A LINC01172 long intergenic non-protein coding RNA 1172 Long non-coding RNAs with non-systematic symbols 1992 2014-01-13 2014-01-20 2014-01-20 2022-01-13 389741 ENSG00000278175 OTTHUMG00000189744 AK092305 NR_015363 "23726844|28211799" GLIDR HGNC:48823 +HGNC:17001 GLIPR1 GLI pathogenesis related 1 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "RTVP1|GliPR" GLI pathogenesis-related 1 (glioma) GLIPR family 1358 2002-12-04 2016-03-09 2016-10-05 11010 ENSG00000139278 OTTHUMG00000169757 uc001sxs.4 U16307 NM_006851 CCDS9011 P48060 "7607567|8973356" MGI:1920940 RGD:1305978 602692 HGNC:17001 "ENST00000266659.8|NM_006851.3" +HGNC:56075 GLIPR1-AS1 GLIPR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 RP11-585P4.5 Antisense RNAs 1987 2021-12-15 2021-12-15 123706544 ENSG00000257497 XR_007063373 +HGNC:28392 GLIPR1L1 GLIPR1 like 1 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 MGC26856 "GLI pathogenesis-related 1 like 1|GLI pathogenesis related 1 like 1" GLIPR family 1358 2006-05-22 2017-12-08 2019-02-21 256710 ENSG00000173401 OTTHUMG00000169755 uc001sxn.4 BC014603 NM_152779 "CCDS9009|CCDS76578" Q6UWM5 20219979 "MGI:1916536|MGI:3620621" RGD:1563000 610395 HGNC:28392 "ENST00000378695.9|NM_001304964.2" +HGNC:28592 GLIPR1L2 GLIPR1 like 2 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 MGC39497 "GLI pathogenesis-related 1 like 2|GLI pathogenesis related 1 like 2" GLIPR family 1358 2006-05-22 2017-12-08 2017-12-08 144321 ENSG00000180481 OTTHUMG00000169756 uc001sxr.3 BC029557 NM_152436 "CCDS9010|CCDS58258" Q4G1C9 12477932 MGI:1914787 RGD:1310205 610394 HGNC:28592 "ENST00000550916.6|NM_001270396.2" +HGNC:18007 GLIPR2 GLI pathogenesis related 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 GAPR-1 C9orf19 "chromosome 9 open reading frame 19|GLI pathogenesis-related 2" CAP superfamily 1356 2002-01-23 2008-08-15 2016-03-16 2016-03-16 152007 ENSG00000122694 OTTHUMG00000019900 uc033cqe.1 AY039756 NM_022343 "CCDS69595|CCDS75832|CCDS6598|CCDS75833" Q9H4G4 "12137952|11865038" MGI:1917770 RGD:1583669 607141 HGNC:18007 "ENST00000377960.9|NM_022343.4" +HGNC:29525 GLIS1 GLIS family zinc finger 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ36155 Gli-similar 1 Zinc fingers C2H2-type 28 2004-07-16 2019-12-03 148979 ENSG00000174332 OTTHUMG00000008079 uc001cvr.2 AK093474 NM_147193 CCDS582 Q8NBF1 "12042312|14500813" MGI:2386723 RGD:1308030 610378 HGNC:29525 "ENST00000628545.2|NM_001367484.1" +HGNC:29450 GLIS2 GLIS family zinc finger 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 NPHP7 "nephrocystin-7|Gli-similar 2" Zinc fingers C2H2-type 28 2004-07-16 2021-05-26 84662 ENSG00000126603 OTTHUMG00000129467 uc002cwc.2 AF325914 NM_032575 CCDS10511 Q9BZE0 "11741991|14500813|17618285" MGI:1932535 RGD:1309177 608539 168309 HGNC:29450 "ENST00000433375.2|NM_032575.3" HGNC:29450 +HGNC:51381 GLIS2-AS1 GLIS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2014-10-23 2014-10-23 101926896 ENSG00000262686 OTTHUMG00000177619 "BX104227|AI694962" NR_110901 GLIS2-AS1 HGNC:51381 +HGNC:28510 GLIS3 GLIS family zinc finger 3 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 MGC33662 Gli-similar 3 ZNF515 zinc finger protein 515 Zinc fingers C2H2-type 28 2003-12-22 2004-07-16 2004-07-16 2021-05-26 169792 ENSG00000107249 OTTHUMG00000019463 uc003zhx.2 BC033899 NM_152629 "CCDS6451|CCDS43784" Q8NEA6 14500813 MGI:2444289 RGD:1565505 610192 165848 HGNC:28510 "ENST00000381971.8|NM_001042413.2" HGNC:28510 +HGNC:28260 GLIS3-AS1 GLIS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.2 09p24.2 MGC16153 C9orf70 "chromosome 9 open reading frame 70|GLIS3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-01-05 2011-08-31 2012-08-15 2018-03-23 84850 ENSG00000237009 OTTHUMG00000019461 uc003zia.4 BC007366 NR_026663 28874676 GLIS3-AS1 HGNC:28260 +HGNC:55796 GLIS3-AS2 GLIS3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 9p24.2 09p24.2 Antisense RNAs 1987 2021-07-29 2021-07-29 107986989 ENSG00000228322 +HGNC:14373 GLMN glomulin, FKBP associated protein protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "FAP48|FAP68|GLML|GVM|FKBPAP" VMGLOM venous malformation with glomus cells 2003-07-14 2004-07-01 2021-04-28 11146 ENSG00000174842 OTTHUMG00000010283 uc001dor.4 U73704 NM_007070 CCDS738 Q92990 "8955134|22748924" MGI:2141180 RGD:1588600 601749 122172 HGNC:14373 "ENST00000370360.8|NM_053274.3" HGNC:14373 +HGNC:29436 GLMP glycosylated lysosomal membrane protein protein-coding gene gene with protein product Approved 1q22 01q22 "MGC31963|NCU-G1" kidney lysosomal membrane protein C1orf85 chromosome 1 open reading frame 85 2005-05-27 2015-01-09 2015-01-09 2020-06-18 112770 ENSG00000198715 OTTHUMG00000019789 BC011575 NM_144580 "CCDS72947|CCDS1139|CCDS72948|CCDS72949" Q8WWB7 "18021396|19489740|31661432" MGI:1913318 RGD:1303130 HGNC:29436 "ENST00000362007.6|NM_144580.3" +HGNC:4323 GLO1 glyoxalase I protein-coding gene gene with protein product Approved 6p21.2 06p21.2 GLOD1 lactoylglutathione lyase Glyoxalase domain containing family 2111 2001-06-22 2021-10-11 2739 ENSG00000124767 OTTHUMG00000014636 uc003ooc.4 L07837 NM_006708 CCDS4837 Q04760 "8449929|7684374" MGI:95742 RGD:2702 138750 4.4.1.5 HGNC:4323 "ENST00000373365.5|NM_006708.3" +HGNC:14111 GLOD4 glyoxalase domain containing 4 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "CGI-150|HC71" C17orf25 chromosome 17 open reading frame 25 Glyoxalase domain containing family 2111 2004-06-24 2007-03-14 2007-03-14 2016-12-12 51031 ENSG00000167699 OTTHUMG00000177497 uc002fru.4 AF177342 NM_016080 CCDS32520 Q9HC38 "11642406|12528892" MGI:1914451 RGD:1307010 HGNC:14111 "ENST00000301329.11|NM_016080.4" +HGNC:33358 GLOD5 glyoxalase domain containing 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 Glyoxalase domain containing family 2111 2007-03-14 2020-04-02 392465 ENSG00000171433 OTTHUMG00000024125 uc011mmh.3 NM_001080489 CCDS55410 A6NK44 MGI:1917074 RGD:1564596 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLOD5 HGNC:33358 "ENST00000303227.11|NM_001080489.3" +HGNC:4324 GLP1R glucagon like peptide 1 receptor protein-coding gene gene with protein product Approved 6p21.2 06p21.2 GLP-1R glucagon-like peptide 1 receptor Glucagon receptor family 269 1993-03-11 2015-11-18 2017-02-07 2740 ENSG00000112164 OTTHUMG00000014638 uc003ooj.5 NM_002062 CCDS4839 P43220 MGI:99571 RGD:2703 138032 objectId:249 HGNC:4324 "ENST00000373256.5|NM_002062.5" +HGNC:4325 GLP2R glucagon like peptide 2 receptor protein-coding gene gene with protein product Approved 17p13.1 17p13.1 glucagon-like peptide 2 receptor Glucagon receptor family 269 1999-02-23 2016-03-30 2016-10-05 9340 ENSG00000065325 OTTHUMG00000130269 uc002gmd.2 AF105367 NM_004246 CCDS11150 O95838 9990065 MGI:2136733 RGD:620270 603659 objectId:250 HGNC:4325 "ENST00000262441.10|NM_004246.3" +HGNC:4326 GLRA1 glycine receptor alpha 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 stiff person syndrome STHE glycine receptor, alpha 1 (startle disease/hyperekplexia) Glycine receptors 868 1990-06-15 2015-11-13 2021-05-26 2741 ENSG00000145888 OTTHUMG00000130121 uc003lur.4 NM_000171 "CCDS54942|CCDS4320" P23415 "1355335|8298642" MGI:95747 RGD:2704 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLRA1 138491 122179 objectId:423 HGNC:4326 "ENST00000274576.9|NM_000171.4" HGNC:4326 +HGNC:4327 GLRA2 glycine receptor alpha 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 GLR Glycine receptors 868 1989-05-23 2015-11-13 2020-04-02 2742 ENSG00000101958 OTTHUMG00000021166 uc010neq.4 NM_001118885 "CCDS48085|CCDS55371|CCDS14160" P23416 MGI:95748 RGD:2705 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLRA2 305990 objectId:424 HGNC:4327 "ENST00000218075.9|NM_002063.4" +HGNC:4328 GLRA3 glycine receptor alpha 3 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 Glycine receptors 868 1999-12-07 2015-11-13 2015-11-13 8001 ENSG00000145451 OTTHUMG00000149816 uc003ity.3 AF017724 NM_001042543 "CCDS43283|CCDS3822" O75311 9677400 MGI:95749 RGD:621229 600421 objectId:425 HGNC:4328 "ENST00000274093.8|NM_006529.4" +HGNC:31715 GLRA4 glycine receptor alpha 4 (pseudogene) pseudogene pseudogene Approved Xq22.2 Xq22.2 glycine receptor alpha 4 Glycine receptors 868 2005-06-01 2019-10-30 2020-04-02 441509 ENSG00000188828 OTTHUMG00000022110 uc011mse.3 Z93848 NR_164162 29445326 MGI:95750 RGD:1564103 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLRA4 HGNC:31715 +HGNC:4329 GLRB glycine receptor beta protein-coding gene gene with protein product Approved 4q32.1 04q32.1 Glycine receptors 868 1998-08-21 2015-11-13 2021-05-26 2743 ENSG00000109738 OTTHUMG00000161954 uc003ipj.3 U33267 NM_000824 "CCDS3796|CCDS54813" P48167 "9676428|8717357" MGI:95751 RGD:2706 138492 122182 objectId:427 HGNC:4329 "ENST00000264428.9|NM_000824.5" HGNC:4329 +HGNC:4330 GLRX glutaredoxin protein-coding gene gene with protein product Approved 5q15 05q15 "GRX|GRX1" thioltransferase glutaredoxin (thioltransferase) Glutaredoxin domain containing 1468 1995-05-18 2015-11-13 2016-10-05 2745 ENSG00000173221 OTTHUMG00000121167 uc063fnd.1 NM_002064 CCDS4078 P35754 8838810 MGI:2135625 RGD:70951 600443 HGNC:4330 "ENST00000237858.11|NM_001118890.2" +HGNC:16065 GLRX2 glutaredoxin 2 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "GRX2|bA101E13.1" glutaredoxin (thioltransferase) 2 Glutaredoxin domain containing 1468 2001-08-24 2015-11-13 51022 ENSG00000023572 OTTHUMG00000035677 uc001gta.3 AF132495 NM_016066 "CCDS1381|CCDS1380" Q9NS18 11297543 MGI:1916617 RGD:1307950 606820 HGNC:16065 "ENST00000367439.8|NM_197962.3" +HGNC:15987 GLRX3 glutaredoxin 3 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "PICOT|bA500G10.4|GRX3|GLRX4|GRX4" glutaredoxin 4 TXNL2 thioredoxin-like 2 Glutaredoxin domain containing 1468 2001-06-27 2007-08-16 2007-08-16 2016-10-05 10539 ENSG00000108010 OTTHUMG00000019267 uc001lkn.3 AJ010841 NM_006541 CCDS7661 O76003 "10636891|11124703" MGI:1353653 RGD:69414 612754 HGNC:15987 "ENST00000331244.10|NM_006541.5" +HGNC:49787 GLRX3P1 glutaredoxin 3 pseudogene 1 pseudogene pseudogene Approved 9p21.3 09p21.3 2014-02-14 2014-02-14 100418908 NG_023790 PGOHUM00000235984 HGNC:49787 +HGNC:49788 GLRX3P2 glutaredoxin 3 pseudogene 2 pseudogene pseudogene Approved 6p25.2 06p25.2 2014-02-14 2014-02-14 728344 ENSG00000216657 OTTHUMG00000014155 NG_022339 PGOHUM00000243473 HGNC:49788 +HGNC:20134 GLRX5 glutaredoxin 5 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "PR01238|GRX5" C14orf87 "chromosome 14 open reading frame 87|glutaredoxin 5 homolog (S. cerevisiae)" "Glutaredoxin domain containing|Mitochondrial iron-sulfur assembly components" "1468|1853" 2002-12-18 2005-11-11 2007-08-16 2016-10-05 51218 ENSG00000182512 OTTHUMG00000171636 uc001yem.2 AF113691 NM_016417 CCDS9936 Q86SX6 MGI:1920296 RGD:1308383 609588 169900 HGNC:20134 "ENST00000331334.5|NM_016417.3" HGNC:20134 +HGNC:55062 GLRX5P1 GLRX5 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 2020-06-05 2020-06-05 2020-06-05 100128546 ENSG00000181511 NG_022696 +HGNC:55063 GLRX5P2 GLR5 pseudogene 2 pseudogene pseudogene Approved 1q23.3 01q23.3 2020-06-05 2020-06-05 118568821 ENSG00000232879 +HGNC:55064 GLRX5P3 GLRX5 pseudogene 3 pseudogene pseudogene Approved 14q21.1 14q21.1 2020-06-05 2020-06-05 2020-06-05 2020-06-05 118568802 ENSG00000271424 +HGNC:16544 GLRXP1 glutaredoxin pseudogene 1 pseudogene pseudogene Approved 20q11.23 20q11.23 bA425M5.1 GLRXP "glutaredoxin (thioltransferase) pseudogene|glutaredoxin (thioltransferase) pseudogene 1" 2001-09-17 2009-11-25 2016-06-27 2016-06-27 170522 ENSG00000228234 OTTHUMG00000032423 AL109614 NG_001013 PGOHUM00000296991 HGNC:16544 +HGNC:18376 GLRXP2 glutaredoxin pseudogene 2 pseudogene pseudogene Approved 14q32.11 14q32.11 glutaredoxin (thioltransferase) pseudogene 2 2002-12-19 2016-06-27 2016-06-27 171418 ENSG00000258544 OTTHUMG00000171018 AF358259 NG_001323 11702225 PGOHUM00000292747 HGNC:18376 +HGNC:34049 GLRXP3 glutaredoxin pseudogene 3 pseudogene pseudogene Approved 5q34 05q34 GLRXL "glutaredoxin (thioltransferase)-like|glutaredoxin (thioltransferase) pseudogene 3" 2008-04-03 2009-05-19 2016-06-27 2016-06-27 100132510 ENSG00000118990 OTTHUMG00000157505 NG_009942 PGOHUM00000300811 HGNC:34049 +HGNC:4331 GLS glutaminase protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "KIAA0838|GLS1" Ankyrin repeat domain containing 403 1989-02-07 2016-10-05 2744 ENSG00000115419 OTTHUMG00000132701 uc002usf.4 AB020645 NM_001256310 "CCDS58744|CCDS2308" O94925 10048485 MGI:95752 RGD:2707 138280 objectId:2891 3.5.1.2 HGNC:4331 "ENST00000320717.8|NM_014905.5" HGNC:4331 +HGNC:29570 GLS2 glutaminase 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "GA|GLS|LGA|hLGA" glutaminase 2 (liver, mitochondrial) Ankyrin repeat domain containing 403 2004-03-11 2015-12-04 2016-10-05 27165 ENSG00000135423 OTTHUMG00000140379 uc001slj.5 NM_013267 "CCDS8921|CCDS73482" Q9UI32 "11130979|10620514" MGI:2143539 RGD:620359 606365 3.5.1.2 HGNC:29570 "ENST00000311966.9|NM_013267.4" +HGNC:26483 GLT1D1 glycosyltransferase 1 domain containing 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 FLJ31978 Glycosyl transferases group 1 domain containing 427 2006-01-16 2016-10-05 144423 ENSG00000151948 OTTHUMG00000168437 uc058vcn.1 NM_144669 CCDS9265 Q96MS3 MGI:2442755 RGD:1304896 HGNC:26483 "ENST00000281703.11|NM_144669.3" +HGNC:23671 GLT6D1 glycosyltransferase 6 domain containing 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 GLTDC1 galactosyltransferase family 6 domain containing 1 Glycosyltransferase family 6 429 2003-12-01 2004-09-17 2004-09-16 2015-09-07 360203 ENSG00000204007 OTTHUMG00000020911 uc010nbd.1 AY336054 NM_182974 CCDS43900 Q7Z4J2 MGI:1918353 RGD:1311348 613699 HGNC:23671 "ENST00000371763.6|NM_182974.3" +HGNC:24870 GLT8D1 glycosyltransferase 8 domain containing 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "AD-017|FLJ14611" Glycosyltransferase family 8 436 2005-01-19 2015-09-11 55830 ENSG00000016864 OTTHUMG00000158759 uc003dfm.5 AY358579 NM_152932 CCDS2862 Q68CQ7 12975309 MGI:1923735 RGD:1359293 618399 HGNC:24870 "ENST00000266014.11|NM_018446.4" +HGNC:24890 GLT8D2 glycosyltransferase 8 domain containing 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 FLJ31494 Glycosyltransferase family 8 436 2005-01-19 2015-09-07 83468 ENSG00000120820 OTTHUMG00000170120 uc001tki.2 BC022343 NM_031302 CCDS9096 Q9H1C3 MGI:1922032 RGD:1560432 HGNC:24890 "ENST00000360814.9|NM_001384711.1" +HGNC:24867 GLTP glycolipid transfer protein protein-coding gene gene with protein product Approved 12q24.11 12q24.11 2006-01-06 2014-11-19 51228 ENSG00000139433 OTTHUMG00000169278 uc001tpm.3 "AF209704|AY372530" NM_016433 CCDS9136 Q9NZD2 "15287756|15901739" MGI:1929253 RGD:1564442 608949 HGNC:24867 "ENST00000318348.9|NM_016433.4" +HGNC:33756 GLTPD2 glycolipid transfer protein domain containing 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 2007-12-19 2020-03-31 388323 ENSG00000182327 OTTHUMG00000177929 uc002fza.3 BC029290 NM_001014985 CCDS32534 A6NH11 MGI:2444527 RGD:1560459 HGNC:33756 "ENST00000331264.8|NM_001014985.3" +HGNC:33991 GLTPP1 glycolipid transfer protein pseudogene 1 pseudogene pseudogene Approved 11p15.1 11p15.1 2008-02-11 2012-03-09 645312 ENSG00000255138 OTTHUMG00000166443 AY039109 NG_007407 HGNC:33991 +HGNC:4335 GLUD1 glutamate dehydrogenase 1 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "GDH|GDH1|hGDH1" GLUD 1986-01-01 2022-04-07 2746 ENSG00000148672 OTTHUMG00000018666 uc001keh.4 M20867 NM_005271 CCDS7382 P00367 "2757358|11903050" MGI:95753 RGD:2708 138130 122188 1.4.1.3 HGNC:4335 "ENST00000277865.5|NM_005271.5" HGNC:4335 +HGNC:4337 GLUD1P2 glutamate dehydrogenase 1 pseudogene 2 pseudogene pseudogene Approved 10q11.22 10q11.22 bA342C24.3 "GLUDP2|GLUD1P7|GLUDP7" "glutamate dehydrogenase pseudogene 2|glutamate dehydrogenase 1 pseudogene 7|glutamate dehydrogenase pseudogene 7" 1993-03-03 2010-01-18 2010-01-18 2020-04-20 414212 ENSG00000265366 OTTHUMG00000018100 "X66313|X66315|X66319" NG_016765 8486350 HGNC:4337 +HGNC:4338 GLUD1P3 glutamate dehydrogenase 1 pseudogene 3 pseudogene pseudogene Approved 10q22.2 10q22.2 Em:AC022400.11 "GLUDP3|C10orf102" "glutamate dehydrogenase pseudogene 3|chromosome 10 open reading frame 102" 1993-03-03 2010-01-18 2010-01-18 2016-02-12 2749 ENSG00000250959 OTTHUMG00000018477 X66316 NR_048575 8486350 HGNC:4338 +HGNC:4339 GLUD1P4 glutamate dehydrogenase 1 pseudogene 4 pseudogene pseudogene Approved 18q21.32 18q21.32 GLUDP4 glutamate dehydrogenase pseudogene 4 1993-04-30 2010-01-18 2010-01-18 2015-02-04 2750 ENSG00000267486 OTTHUMG00000179948 X66314 NG_005046 8486350 PGOHUM00000294799 HGNC:4339 +HGNC:4340 GLUD1P5 glutamate dehydrogenase 1 pseudogene 5 pseudogene pseudogene Approved 10p11.2 10p11.2 GLUDP5 glutamate dehydrogenase pseudogene 5 1993-04-30 2010-01-18 2010-01-18 2010-03-16 2751 X67491 NG_001129 "8486350|8314555" HGNC:4340 +HGNC:23610 GLUD1P6 glutamate dehydrogenase 1 pseudogene 6 pseudogene pseudogene Approved 10q11.22 10q11.22 "bK2173J9.1|bA144G6.5" "GLUDP6|GLUD1P8|GLUDP8" "glutamate dehydrogenase pseudogene 6|glutamate dehydrogenase 1 pseudogene 8|glutamate dehydrogenase pseudogene 8" 2004-05-27 2010-01-18 2010-01-18 2020-11-11 414213 NG_032188 HGNC:23610 +HGNC:37696 GLUD1P9 glutamate dehydrogenase 1 pseudogene 9 pseudogene pseudogene Approved Xq23 Xq23 2010-01-18 2015-02-04 100131281 ENSG00000234349 OTTHUMG00000022201 NG_016578 PGOHUM00000304800 HGNC:37696 +HGNC:4336 GLUD2 glutamate dehydrogenase 2 protein-coding gene gene with protein product Approved Xq24 Xq24 GLUDP1 glutamate dehydrogenase pseudogene 1 1986-01-01 2003-02-28 2003-02-24 2020-04-02 2747 ENSG00000182890 OTTHUMG00000022320 uc004eto.4 U08997 NM_012084 CCDS14603 P49448 "8207021|9109504" MGI:95753 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GLUD2 300144 HGNC:4336 "ENST00000328078.3|NM_012084.4" +HGNC:4341 GLUL glutamate-ammonia ligase protein-coding gene gene with protein product Approved 1q25.3 01q25.3 glutamine synthetase GLNS glutamate-ammonia ligase (glutamine synthase) 1988-11-30 2010-05-04 2021-05-26 2752 ENSG00000135821 OTTHUMG00000037407 uc001gpd.2 AL161952 NM_002065 CCDS1344 P15104 "1681907|2888076" MGI:95739 RGD:2710 138290 168083 6.3.1.2 HGNC:4341 "ENST00000331872.11|NM_001033044.4" HGNC:4341 +HGNC:4342 GLULP1 glutamate-ammonia ligase pseudogene 1 pseudogene pseudogene Approved 5q33.1 05q33.1 GLULL1 "glutamate-ammonia ligase (glutamine synthase)-like 1|glutamate-ammonia ligase (glutamine synthetase)-like 1|glutamate-ammonia ligase (glutamine synthetase) pseudogene 1" 1996-09-24 2010-03-16 2016-06-27 2016-06-27 2753 NG_003030 8921392 PGOHUM00000235814 HGNC:4342 +HGNC:4343 GLULP2 glutamate-ammonia ligase pseudogene 2 pseudogene pseudogene Approved 11p15.4 11p15.4 GLULL2 "glutamate-ammonia ligase (glutamine synthase)-like 2|glutamate-ammonia ligase (glutamine synthetase)-like 2|glutamate-ammonia ligase (glutamine synthetase) pseudogene 2" 1996-09-24 2010-03-16 2016-06-27 2016-06-27 2754 NG_009859 8921392 PGOHUM00000242168 HGNC:4343 +HGNC:4344 GLULP3 glutamate-ammonia ligase pseudogene 3 pseudogene pseudogene Approved 11q24.1 11q24.1 GLULL3 "glutamate-ammonia ligase (glutamine synthase)-like 3|glutamate-ammonia ligase (glutamine synthetase)-like 3|glutamate-ammonia ligase (glutamine synthetase) pseudogene 3" 1996-09-24 2010-03-16 2016-06-27 2020-04-20 401708 ENSG00000254572 OTTHUMG00000166039 NG_007180 8921392 PGOHUM00000290732 HGNC:4344 +HGNC:4345 GLULP4 glutamate-ammonia ligase pseudogene 4 pseudogene pseudogene Approved 9p13.3 09p13.3 GLULP "glutamate-ammonia ligase (glutamine synthase) pseudogene|glutamate-ammonia ligase (glutamine synthetase) pseudogene|glutamate-ammonia ligase (glutamine synthetase) pseudogene 4" 1996-09-24 2010-03-16 2016-06-27 2016-06-27 392305 ENSG00000178723 OTTHUMG00000019842 NG_005208 8921392 PGOHUM00000236446 HGNC:4345 +HGNC:37989 GLULP5 glutamate-ammonia ligase pseudogene 5 pseudogene pseudogene Approved 12q24.21 12q24.21 glutamate-ammonia ligase (glutamine synthetase) pseudogene 5 2010-03-17 2016-06-27 2017-03-28 100421694 ENSG00000257915 OTTHUMG00000169479 NG_021735 PGOHUM00000291812 HGNC:37989 +HGNC:37990 GLULP6 glutamate-ammonia ligase pseudogene 6 pseudogene pseudogene Approved 2q32.3 02q32.3 glutamate-ammonia ligase (glutamine synthetase) pseudogene 6 2010-03-17 2016-06-27 2016-06-27 343981 ENSG00000215043 OTTHUMG00000154356 NG_021543 PGOHUM00000240465 HGNC:37990 +HGNC:13734 GLYAT glycine-N-acyltransferase protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "GAT|ACGNAT" 2001-05-04 2015-09-11 10249 ENSG00000149124 OTTHUMG00000167429 uc001nnb.4 AF023466 NM_201648 "CCDS7970|CCDS7971" Q6IB77 MGI:2147502 RGD:1307163 607424 2.3.1.13 HGNC:13734 "ENST00000344743.8|NM_201648.3" +HGNC:30519 GLYATL1 glycine-N-acyltransferase like 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "MGC15397|FLJ34646" glycine-N-acyltransferase-like 1 2005-09-11 2015-11-18 2015-11-18 92292 ENSG00000166840 OTTHUMG00000167221 uc001nnf.4 AK091965 NM_080661 "CCDS31556|CCDS55768" Q969I3 22475485 614761 HGNC:30519 "ENST00000532726.6|NM_001389712.2" +HGNC:37865 GLYATL1B glycine-N-acyltransferase like 1B protein-coding gene gene with protein product Approved 11q12.1 11q12.1 GLYATL1P3 "glycine-N-acyltransferase-like 1 pseudogene 3|glycine-N-acyltransferase like 1 pseudogene 3" 2010-09-29 2017-09-28 2017-09-28 2020-06-15 100287520 ENSG00000255151 OTTHUMG00000167278 uc284mza.1 NM_001355566 CCDS86204 A0A0U1RQE8 PGOHUM00000290984 HGNC:37865 "ENST00000527482.2|NM_001355566.1" +HGNC:37866 GLYATL1P1 glycine-N-acyltransferase like 1 pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 glycine-N-acyltransferase-like 1 pseudogene 1 2010-03-05 2015-11-18 2015-11-18 100129032 ENSG00000255189 OTTHUMG00000167275 NG_022951 PGOHUM00000290982 HGNC:37866 +HGNC:37863 GLYATL1P2 glycine-N-acyltransferase like 1 pseudogene 2 pseudogene pseudogene Approved 11q12.1 11q12.1 glycine-N-acyltransferase-like 1 pseudogene 2 2010-03-05 2015-11-18 2015-11-18 100129933 ENSG00000254717 OTTHUMG00000167220 XR_037279 PGOHUM00000242743 HGNC:37863 +HGNC:37864 GLYATL1P4 glycine-N-acyltransferase like 1 pseudogene 4 pseudogene pseudogene Approved 11q12.1 11q12.1 glycine-N-acyltransferase-like 1 pseudogene 4 2010-09-29 2015-11-18 2015-11-18 643637 ENSG00000254399 OTTHUMG00000167277 NG_028295 PGOHUM00000242745 HGNC:37864 +HGNC:24178 GLYATL2 glycine-N-acyltransferase like 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "BXMAS2-10|MGC24009" glycine-N-acyltransferase-like 2 2005-09-11 2015-11-18 2020-11-17 219970 ENSG00000156689 OTTHUMG00000167432 uc001nnd.6 AF426250 NM_145016 CCDS41649 Q8WU03 20305126 614762 2.3.1.13 HGNC:24178 "ENST00000287275.6|NM_145016.4" +HGNC:21349 GLYATL3 glycine-N-acyltransferase like 3 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 bA28H17.2 C6orf140 "chromosome 6 open reading frame 140|glycine-N-acyltransferase-like 3" 2003-11-26 2009-12-14 2015-11-18 2015-11-18 389396 ENSG00000203972 OTTHUMG00000014818 uc003ozi.4 NM_001010904 CCDS47440 Q5SZD4 20305126 MGI:3647683 RGD:1587643 614763 HGNC:21349 "ENST00000371197.9|NM_001010904.2" +HGNC:18023 GLYCAM1 glycosylation dependent cell adhesion molecule 1 (pseudogene) pseudogene pseudogene Approved 12q13.2 12q13.2 glycosylation dependent cell adhesion molecule 1 2006-01-23 2008-03-11 2019-12-17 644076 ENSG00000257780 OTTHUMG00000169935 AJ489589 NR_003039 Q8IVK1 12057858 MGI:95759 HGNC:18023 +HGNC:24247 GLYCTK glycerate kinase protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "HBEBP4|HBEBP2" 2008-01-22 2021-05-26 132158 ENSG00000168237 OTTHUMG00000158380 uc003ddo.4 NM_145262 "CCDS46841|CCDS2852" Q8IVS8 16753811 MGI:2444085 RGD:1591498 610516 260595 2.7.1.31 HGNC:24247 "ENST00000436784.7|NM_145262.4" HGNC:24247 +HGNC:41043 GLYCTK-AS1 GLYCTK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.1 03p21.1 GLYCTK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874110 ENSG00000242797 OTTHUMG00000158379 uc062klb.1 NR_046719 GLYCTK-AS1 HGNC:41043 +HGNC:24434 GLYR1 glyoxylate reductase 1 homolog protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "BM045|HIBDL|NP60|N-PAC" nuclear protein 60kDa glyoxylate reductase 1 homolog (Arabidopsis) PWWP domain containing 1147 2009-08-14 2016-03-21 2016-03-21 84656 ENSG00000140632 OTTHUMG00000129530 uc002cxx.5 AF244907 NM_032569 "CCDS10524|CCDS81945" Q49A26 16352664 MGI:1921272 RGD:1309459 610660 HGNC:24434 "ENST00000321919.14|NM_032569.4" +HGNC:4367 GM2A GM2 ganglioside activator protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "SAP-3|GM2-AP|GM2AP" "cerebroside sulfate activator protein|sphingolipid activator protein 3|GM2-activator protein" GM2 ganglioside activator protein MD-2 related lipid recognition domain containing 2129 1986-01-01 2004-05-20 2022-04-07 2760 ENSG00000196743 OTTHUMG00000130124 uc003ltr.5 NM_000405 CCDS4313 P17900 "115863|1915857" MGI:95762 RGD:628651 GM2A Locus Database|http://www.hexdb.mcgill.ca 613109 122192 HGNC:4367 "ENST00000357164.4|NM_000405.5" HGNC:4367 +HGNC:4368 GM2AP1 GM2 ganglioside activator pseudogene 1 pseudogene pseudogene Approved 3q24 03q24 GM2AP "GM2 ganglioside activator protein pseudogene|GM2 ganglioside activator pseudogene" 1992-03-03 2010-03-17 2010-03-17 2014-11-19 2761 ENSG00000241695 OTTHUMG00000159389 L01440 NG_001130 1427911 PGOHUM00000238224 HGNC:4368 +HGNC:38002 GM2AP2 GM2 ganglioside activator pseudogene 2 pseudogene pseudogene Approved 1q24.3 01q24.3 2010-03-17 2014-11-18 100287900 ENSG00000239428 OTTHUMG00000158542 NG_022818 PGOHUM00000245084 HGNC:38002 +HGNC:23843 GMCL1 germ cell-less 1, spermatogenesis associated protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "FLJ13057|BTBD13|GCL1|SPATA29" spermatogenesis associated 29 germ cell-less homolog 1 (Drosophila) BTB domain containing 861 2006-01-31 2019-01-21 2019-01-21 64395 ENSG00000087338 OTTHUMG00000129643 uc002sfu.4 AK023119 NM_178439 CCDS1895 Q96IK5 MGI:1345156 RGD:1359265 618627 HGNC:23843 "ENST00000282570.4|NM_178439.5" +HGNC:42863 GMCL1P2 GMCL1 pseudogene 2 pseudogene pseudogene Approved 2q12.3 02q12.3 "germ cell-less homolog 1 (Drosophila) pseudogene 2|germ cell-less, spermatogenesis associated 1 pseudogene 2" 2011-09-02 2019-01-21 2019-01-21 100420975 ENSG00000271070 OTTHUMG00000184264 NG_023717 PGOHUM00000298617 HGNC:42863 +HGNC:19717 GMCL2 germ cell-less 2, spermatogenesis associated protein-coding gene gene with protein product Approved 5q35.3 05q35.3 GCL "GMCL1L|GMCL1P1" "germ cell-less homolog 1 (Drosophila)-like|germ cell-less homolog 1 (Drosophila) pseudogene 1|germ cell-less, spermatogenesis associated 1 pseudogene 1" 2006-01-31 2017-11-22 2019-01-21 2019-01-21 64396 ENSG00000244234 OTTHUMG00000130894 AK315701 NM_001358008 Q8NEA9 16201836 MGI:1345156 618629 PGOHUM00000235472 HGNC:19717 "ENST00000463439.3|NM_001358008.2" +HGNC:4369 GMDS GDP-mannose 4,6-dehydratase protein-coding gene gene with protein product Approved 6p25.3 06p25.3 "GMD|SDR3E1" short chain dehydrogenase/reductase family 3E, member 1 Short chain dehydrogenase/reductase superfamily 743 1998-05-07 2016-10-05 2762 ENSG00000112699 OTTHUMG00000016143 uc003mtq.4 AF042377 NM_001253846 "CCDS4474|CCDS58994" O60547 "9525924|19027726" MGI:1891112 RGD:1311008 602884 4.2.1.47 HGNC:4369 "ENST00000380815.5|NM_001500.4" +HGNC:48993 GMDS-DT GMDS divergent transcript non-coding RNA RNA, long non-coding Approved 6p25.3-p25.2 06p25.3-p25.2 GMDS-AS1 GMDS antisense RNA 1 (head to head) Divergent transcripts 1990 2013-07-25 2018-03-22 2018-03-22 2020-01-10 100508120 ENSG00000250903 OTTHUMG00000014120 NR_046229 31860169 GMDS-AS1 HGNC:48993 +HGNC:4370 GMEB1 glucocorticoid modulatory element binding protein 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "P96PIF|PIF96" 1999-07-07 2016-10-05 10691 ENSG00000162419 OTTHUMG00000003647 uc001bra.4 AF099013 NM_006582 "CCDS327|CCDS328" Q9Y692 "10386584|10523663" MGI:2135604 RGD:1563208 604409 HGNC:4370 "ENST00000373816.6|NM_001319674.2" +HGNC:4371 GMEB2 glucocorticoid modulatory element binding protein 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "P79PIF|KIAA1269|PIF79" 2000-03-30 2014-11-18 26205 ENSG00000101216 OTTHUMG00000032988 uc002yfq.2 AF173867 NM_012384 CCDS13528 Q9UKD1 "10523663|11743720" MGI:2652836 RGD:620481 607451 HGNC:4371 "ENST00000370077.2|NM_012384.5" +HGNC:4373 GMFB glia maturation factor beta protein-coding gene gene with protein product Approved 14q22.2 14q22.2 GMF 1992-10-15 2016-02-09 2016-02-09 2764 ENSG00000197045 OTTHUMG00000140307 uc021rtf.2 M86492 NM_004124 CCDS9718 P60983 1712830 MGI:1927133 RGD:70910 601713 HGNC:4373 "ENST00000358056.8|NM_004124.3" +HGNC:38654 GMFBP1 glia maturation factor beta pseudogene 1 pseudogene pseudogene Approved 3q12.2 03q12.2 2010-07-06 2016-02-09 2016-02-09 100499251 ENSG00000243495 OTTHUMG00000159084 NG_023431 PGOHUM00000237696 HGNC:38654 +HGNC:4374 GMFG glia maturation factor gamma protein-coding gene gene with protein product Approved 19q13.2 19q13.2 1999-05-25 2016-02-09 2016-02-09 9535 ENSG00000130755 OTTHUMG00000182811 uc002okz.5 AB001993 NM_001301008 "CCDS74364|CCDS12532" O60234 "9545571|9653160|17127212" MGI:1927135 RGD:620506 604104 HGNC:4374 "ENST00000597595.6|NM_004877.4" +HGNC:24852 GMIP GEM interacting protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 ARHGAP46 AH/BAR family Rho GTPase activating proteins 1923 2004-07-29 2020-03-31 51291 ENSG00000089639 OTTHUMG00000182329 uc002nnd.5 AF132541 NM_016573 "CCDS12408|CCDS74318" Q9P107 "12093360|16086184|25173885" MGI:1926066 RGD:1565577 609694 HGNC:24852 "ENST00000203556.9|NM_016573.4" +HGNC:4375 GML glycosylphosphatidylinositol anchored molecule like protein-coding gene gene with protein product Approved 8q24.3 08q24.3 LY6DL "GPI anchored molecule like protein|glycosylphosphatidylinositol anchored molecule like protein" LY6/PLAUR domain containing 1226 1997-03-19 2012-11-02 2016-10-25 2765 ENSG00000104499 OTTHUMG00000164656 uc003yxg.3 D84290 NM_002066 CCDS6391 Q99445 "8934543|9169150" "MGI:1341831|MGI:3644767" RGD:1307850 602370 HGNC:4375 "ENST00000220940.2|NM_002066.3" +HGNC:40049 GMNC geminin coiled-coil domain containing protein-coding gene gene with protein product Approved 3q28 03q28 GEMC1 2011-08-19 2011-08-19 2015-08-25 647309 ENSG00000205835 OTTHUMG00000156195 uc011bsl.2 BC031680 NM_001146686 CCDS54697 A6NCL1 "20383140|20855966" MGI:2685452 RGD:1563170 614448 HGNC:40049 "ENST00000442080.6|NM_001146686.3" +HGNC:17493 GMNN geminin DNA replication inhibitor protein-coding gene gene with protein product Approved 6p22.3 06p22.3 Gem 2002-08-19 2019-01-21 2021-05-26 51053 ENSG00000112312 OTTHUMG00000014363 uc003nem.4 AF067855 NM_015895 CCDS4560 O75496 9635433 MGI:1927344 RGD:1308137 602842 451459 HGNC:17493 "ENST00000230056.8|NM_015895.5" HGNC:17493 +HGNC:22923 GMPPA GDP-mannose pyrophosphorylase A protein-coding gene gene with protein product Approved 2q35 02q35 2005-01-10 2021-05-26 29926 ENSG00000144591 OTTHUMG00000058922 uc002vlr.4 AF135422 NM_013335 CCDS2441 Q96IJ6 MGI:1916330 RGD:1560644 615495 377682 HGNC:22923 "ENST00000313597.10|NM_013335.4" HGNC:22923 +HGNC:22932 GMPPB GDP-mannose pyrophosphorylase B protein-coding gene gene with protein product Approved 3p21.31 03p21.31 KIAA1851 mannose-1-phosphate guanyltransferase beta 2005-01-10 2021-05-26 29925 ENSG00000173540 OTTHUMG00000158151 uc062jwy.1 AF135421 NM_013334 "CCDS2802|CCDS2803" Q9Y5P6 MGI:2660880 RGD:1560458 615320 361109 2.7.7.22 HGNC:22932 "ENST00000308388.7|NM_021971.4" HGNC:22932 +HGNC:4376 GMPR guanosine monophosphate reductase protein-coding gene gene with protein product Approved 6p22.3 06p22.3 GMP reductase 1 1990-11-09 2016-10-05 2766 ENSG00000137198 OTTHUMG00000014302 uc003nbs.3 NM_006877 CCDS4537 P36959 2194676 MGI:1913605 RGD:70980 139265 1.7.1.7 HGNC:4376 "ENST00000259727.5|NM_006877.4" +HGNC:4377 GMPR2 guanosine monophosphate reductase 2 protein-coding gene gene with protein product Approved 14q12 14q12 1999-07-19 2016-10-05 51292 ENSG00000100938 OTTHUMG00000171912 uc001wns.5 NM_016576 "CCDS61419|CCDS41935|CCDS45087|CCDS73624" Q9P2T1 MGI:1917903 RGD:628875 610781 HGNC:4377 "ENST00000399440.7|NM_001002002.3" +HGNC:4378 GMPS guanine monophosphate synthase protein-coding gene gene with protein product Approved 3q25.31 03q25.31 GATD7 GMP synthase guanine monophosphate synthetase Glutamine amidotransferase class 1 domain containing 1408 1999-01-22 2015-09-01 2017-03-16 8833 ENSG00000163655 OTTHUMG00000158551 uc003faq.4 U10860 NM_003875 CCDS46941 P49915 "8089153|9195163" MGI:2448526 RGD:1310063 600358 6.3.5.2 HGNC:4378 "ENST00000496455.7|NM_003875.3" +HGNC:39428 GMPSP1 guanine monophosphate synthase pseudogene 1 pseudogene pseudogene Approved 4p16.1 04p16.1 2010-12-14 2015-09-01 2015-09-01 728564 ENSG00000250471 OTTHUMG00000160021 NG_023314 PGOHUM00000245819 HGNC:39428 +HGNC:4379 GNA11 G protein subunit alpha 11 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FBH|FBH2|FHH2" HHC2 "hypocalciuric hypercalcemia 2|guanine nucleotide binding protein (G protein), alpha 11 (Gq class)" G protein subunits alpha, group q 1427 1992-07-20 2016-03-03 2021-05-26 2767 ENSG00000088256 OTTHUMG00000180631 uc010xhe.5 AF493900 NM_002067 CCDS12103 P29992 "1302014|23802516" MGI:95766 RGD:619749 LRG_1111|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1111.xml GNA11 139313 360224 HGNC:4379 "ENST00000078429.9|NM_002067.5" HGNC:4379 +HGNC:4380 GNA12 G protein subunit alpha 12 protein-coding gene gene with protein product Approved 7p22.3-p22.2 07p22.3-p22.2 gep guanine nucleotide binding protein (G protein) alpha 12 1993-07-26 2016-03-03 2018-02-13 2768 ENSG00000146535 OTTHUMG00000023064 uc003smu.5 L01694 NM_007353 "CCDS64584|CCDS5335|CCDS64583" Q03113 "8423800|16247467" MGI:95767 RGD:71018 604394 HGNC:4380 "ENST00000275364.8|NM_007353.3" +HGNC:4381 GNA13 G protein subunit alpha 13 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 "G13|MGC46138" guanine nucleotide binding protein (G protein), alpha 13 1999-07-14 2016-03-03 2016-03-03 10672 ENSG00000120063 OTTHUMG00000179316 uc002jfc.4 L22075 NM_006572 "CCDS11661|CCDS62302" Q14344 7791744 MGI:95768 RGD:1310221 604406 HGNC:4381 "ENST00000439174.7|NM_006572.6" +HGNC:54705 GNA13P1 GNA13 pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2019-12-05 2019-12-05 100422337 ENSG00000230237 NG_023575 +HGNC:4382 GNA14 G protein subunit alpha 14 protein-coding gene gene with protein product Approved 9q21.2 09q21.2 guanine nucleotide binding protein (G protein), alpha 14 G protein subunits alpha, group q 1427 1999-06-10 2016-03-03 2021-05-26 9630 ENSG00000156049 OTTHUMG00000020058 uc004aku.4 AF105201 NM_004297 CCDS6657 O95837 "10191087|17620339" MGI:95769 RGD:1308122 604397 477268 HGNC:4382 "ENST00000341700.7|NM_004297.4" +HGNC:50451 GNA14-AS1 GNA14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.2 09q21.2 Antisense RNAs 1987 2014-04-30 2014-04-30 101927422 ENSG00000231373 OTTHUMG00000020056 BI830360 NR_121184 GNA14-AS1 HGNC:50451 +HGNC:4383 GNA15 G protein subunit alpha 15 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 GNA16 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) G protein subunits alpha, group q 1427 1992-12-04 2016-03-03 2019-08-20 2769 ENSG00000060558 OTTHUMG00000180637 uc002lxf.3 NM_002068 CCDS12104 P30679 1302014 MGI:95770 RGD:619751 139314 HGNC:4383 "ENST00000262958.4|NM_002068.4" +HGNC:55293 GNA15-DT GNA15 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Divergent transcripts 1990 2020-10-14 2020-10-14 100996351 ENSG00000267551 NR_110670 +HGNC:4384 GNAI1 G protein subunit alpha i1 protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "Gi1 protein alpha subunit|Guanine nucleotide-binding protein G(i) subunit alpha-1" guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 G protein subunits alpha, group i 1428 1988-05-11 2016-03-03 2021-05-26 2770 ENSG00000127955 OTTHUMG00000023523 uc003uhb.2 AL049933 NM_002069 "CCDS5595|CCDS59061" P63096 3110783 MGI:95771 RGD:2713 139310 HGNC:4384 "ENST00000649796.2|NM_002069.6" HGNC:4384 +HGNC:4385 GNAI2 G protein subunit alpha i2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 GIP GTP-binding regulatory protein Gi alpha-2 chain GNAI2B guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 "G protein subunits alpha, group i|MicroRNA protein coding host genes" "1428|1691" 1986-01-01 2016-03-03 2016-03-03 2771 ENSG00000114353 OTTHUMG00000156940 uc003cyq.3 X04828 NM_002070 "CCDS63642|CCDS63644|CCDS2813|CCDS54587" P04899 "3100330|1733849" MGI:95772 RGD:620243 139360 HGNC:4385 "ENST00000313601.11|NM_002070.4" HGNC:4385 +HGNC:4386 GNAI2P1 G protein subunit alpha i2 pseudogene 1 pseudogene pseudogene Approved 12p13.1 12p13.1 "GNAI2A|GNAI2L" "guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2-like|guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1" 1988-05-11 2010-08-27 2016-03-03 2016-03-03 2772 ENSG00000255749 OTTHUMG00000168655 NG_027930 1733849 139180 PGOHUM00000239685 HGNC:4386 +HGNC:45110 GNAI2P2 G protein subunit alpha i2 pseudogene 2 pseudogene pseudogene Approved 10q22.3 10q22.3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 2 2013-02-15 2016-03-03 2016-03-03 401646 ENSG00000231957 OTTHUMG00000018597 NG_030117 PGOHUM00000238547 HGNC:45110 +HGNC:4387 GNAI3 G protein subunit alpha i3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 87U6 Guanine nucleotide-binding protein G(k) subunit alpha guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 G protein subunits alpha, group i 1428 2001-06-22 2016-03-03 2021-05-26 2773 ENSG00000065135 OTTHUMG00000189112 uc001dxz.4 M27543 NM_006496 CCDS802 P08754 3109953 MGI:95773 RGD:2714 139370 302920 HGNC:4387 "ENST00000369851.7|NM_006496.4" HGNC:4387 +HGNC:4388 GNAL G protein subunit alpha L protein-coding gene gene with protein product Approved 18p11.21 18p11.21 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type G protein subunits alpha, group s 1426 1992-07-20 2016-03-03 2021-05-26 2774 ENSG00000141404 OTTHUMG00000131660 uc010dkz.4 AF493893 "NM_182978|NM_002071" "CCDS11851|CCDS11852|CCDS58614" P38405 1302014 MGI:95774 RGD:2715 139312 331747 HGNC:4388 "ENST00000334049.11|NM_182978.4" HGNC:4388 +HGNC:4389 GNAO1 G protein subunit alpha o1 protein-coding gene gene with protein product Approved 16q13 16q13 G-ALPHA-o guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O "G protein subunits alpha, group i|MicroRNA protein coding host genes" "1428|1691" 1988-04-24 2016-03-03 2021-05-26 2775 ENSG00000087258 OTTHUMG00000133241 uc002eiu.5 NM_020988 "CCDS10756|CCDS10757" P09471 "1899283|11395521" MGI:95775 RGD:628732 139311 363440 HGNC:4389 "ENST00000262493.12|NM_020988.3" HGNC:4389 +HGNC:24498 GNAO1-AS1 GNAO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q13 16q13 Antisense RNAs 1987 2020-11-11 2020-11-11 26077 ENSG00000261439 NR_026889 +HGNC:27543 GNAO1-DT GNAO1 divergent transcript non-coding RNA RNA, long non-coding Approved 16q13 16q13 Divergent transcripts 1990 2021-04-29 2021-04-29 283856 ENSG00000246379 OTTHUMG00000176719 NR_027078 12477932 +HGNC:4390 GNAQ G protein subunit alpha q protein-coding gene gene with protein product Approved 9q21.2 09q21.2 "G-ALPHA-q|GAQ" guanine nucleotide binding protein (G protein), q polypeptide G protein subunits alpha, group q 1427 1992-12-15 2016-03-03 2021-05-26 2776 ENSG00000156052 OTTHUMG00000020059 uc004akw.5 NM_002072 CCDS6658 P50148 8825633 MGI:95776 RGD:620770 LRG_1110|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1110.xml GNAQ 600998 353497 objectId:2914 HGNC:4390 "ENST00000286548.9|NM_002072.5" +HGNC:4391 GNAQP1 G protein subunit alpha q pseudogene 1 pseudogene pseudogene Approved 2q21.1 02q21.1 GNAQP "quanine nucleotide binding protein (G protein), q polypeptide pseudogene|guanine nucleotide binding protein (G protein), q polypeptide pseudogene|guanine nucleotide binding protein (G protein), q polypeptide pseudogene 1" 1996-06-18 2010-03-17 2016-03-03 2016-03-03 2777 ENSG00000214077 OTTHUMG00000153563 U40037 NG_000862 8825633 PGOHUM00000240327 HGNC:4391 +HGNC:4392 GNAS GNAS complex locus protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "NESP55|NESP|GNASXL|GPSA|SCG6|SgVI" "secretogranin VI|G protein subunit alpha S" GNAS1 guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 "Granins|G protein subunits alpha, group s" "925|1426" 1990-06-29 2001-12-20 2001-12-19 2021-05-26 2778 ENSG00000087460 OTTHUMG00000033069 uc061ybx.1 M21142 NM_000516 "CCDS46624|CCDS46622|CCDS13472|CCDS13471|CCDS82633|CCDS46623|CCDS42892" "O95467|P63092|P84996|Q5JWF2" MGI:95777 RGD:2716 LOVD - Leiden Open Variation Database|http://www.LOVD.nl/GNAS GNAS 139320 122194 HGNC:4392 "ENST00000371085.8|NM_000516.7" HGNC:4392 +HGNC:24872 GNAS-AS1 GNAS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.32 20q13.32 "SANG|NESP-AS|NESPAS|GNAS1AS|NCRNA00075" "GNAS antisense|non-protein coding RNA 75" "GNASAS|GNAS-AS" "GNAS antisense RNA (non-protein coding)|GNAS antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-06-20 2010-11-25 2012-08-15 2021-04-13 149775 ENSG00000235590 OTTHUMG00000060481 uc002xzs.3 AJ251759 NR_002785 10749992 MGI:1861674 LRG_1051|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1051.xml 610540 nespas GNAS-AS1 HGNC:24872 +HGNC:4393 GNAT1 G protein subunit alpha transducin 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 CSNBAD3 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 G protein subunits alpha, group i 1428 1986-01-01 2016-03-03 2021-05-26 2779 ENSG00000114349 OTTHUMG00000156808 uc003cym.3 NM_000172 CCDS2812 P11488 MGI:95778 RGD:1304683 139330 122202 HGNC:4393 "ENST00000232461.8|NM_144499.3" HGNC:4393 +HGNC:4394 GNAT2 G protein subunit alpha transducin 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 ACHM4 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 G protein subunits alpha, group i 1428 1986-01-01 2016-03-03 2021-05-26 2780 ENSG00000134183 OTTHUMG00000011639 uc001dya.4 BC000233 NM_005272 CCDS803 P19087 8406495 MGI:95779 RGD:1309514 Mutations of the Transducin Subunits|http://www.retina-international.org/files/sci-news/gntmut.htm 139340 122204 HGNC:4394 "ENST00000679935.1|NM_001377295.2" HGNC:4394 +HGNC:22800 GNAT3 G protein subunit alpha transducin 3 protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "gustducin|GDCA" guanine nucleotide binding protein, alpha transducing 3 G protein subunits alpha, group i 1428 2004-01-29 2016-03-03 2018-11-15 346562 ENSG00000214415 OTTHUMG00000155401 uc011kgu.3 NM_001102386 CCDS47625 A8MTJ3 MGI:3588268 RGD:727817 139395 HGNC:22800 "ENST00000398291.4|NM_001102386.3" +HGNC:4395 GNAZ G protein subunit alpha z protein-coding gene gene with protein product Approved 22q11.22-q11.23 22q11.22-q11.23 guanine nucleotide binding protein (G protein), alpha z polypeptide G protein subunits alpha, group i 1428 1989-03-07 2016-03-03 2018-02-13 2781 ENSG00000128266 OTTHUMG00000150611 uc002zwu.2 NM_002073 CCDS13804 P19086 2115889 MGI:95780 RGD:2717 139160 HGNC:4395 "ENST00000615612.2|NM_002073.4" +HGNC:4396 GNB1 G protein subunit beta 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "transducin beta chain 1|guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1" guanine nucleotide binding protein (G protein), beta polypeptide 1 "WD repeat domain containing|G protein subunits beta" "362|1430" 1986-01-01 2016-03-03 2021-05-26 2782 ENSG00000078369 OTTHUMG00000000940 uc031tmu.1 BC004186 NM_002074 "CCDS72685|CCDS34" P62873 MGI:95781 RGD:2718 139380 HGNC:4396 "ENST00000378609.9|NM_002074.5" HGNC:4396 +HGNC:55772 GNB1-DT GNB1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Divergent transcripts 1990 2021-07-22 2021-07-22 105378949 ENSG00000231050 NR_168263 +HGNC:4397 GNB1L G protein subunit beta 1 like protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "GY2|WDR14" guanine nucleotide binding protein (G protein), beta polypeptide 1-like WD repeat domain containing 362 2000-06-16 2016-03-03 2016-10-05 54584 ENSG00000185838 OTTHUMG00000150279 uc002zqf.2 AF238328 NM_053004 CCDS13768 Q9BYB4 11072084 MGI:1338057 RGD:1594165 610778 HGNC:4397 "ENST00000329517.11|NM_053004.3" +HGNC:4398 GNB2 G protein subunit beta 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "G protein, beta-2 subunit|guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2|signal-transducing guanine nucleotide-binding regulatory protein beta subunit|transducin beta chain 2" guanine nucleotide binding protein (G protein), beta polypeptide 2 "WD repeat domain containing|G protein subunits beta" "362|1430" 1988-05-20 2016-03-03 2021-05-26 2783 ENSG00000172354 OTTHUMG00000137419 uc003uwb.4 M16514 NM_005273 CCDS5703 P62879 9799793 MGI:95784 RGD:69319 139390 HGNC:4398 "ENST00000303210.9|NM_005273.4" +HGNC:4400 GNB3 G protein subunit beta 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "transducin beta chain 3|Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3" guanine nucleotide binding protein (G protein), beta polypeptide 3 "WD repeat domain containing|G protein subunits beta" "362|1430" 1989-05-30 2016-03-03 2021-05-26 2784 ENSG00000111664 OTTHUMG00000168517 uc001qrd.3 NM_002075 "CCDS73427|CCDS8564" P16520 "11770079|16600389" MGI:95785 RGD:708344 139130 HGNC:4400 "ENST00000229264.8|NM_002075.4" HGNC:4400 +HGNC:20731 GNB4 G protein subunit beta 4 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "transducin beta chain 4|Guanine nucleotide-binding protein subunit beta-4" guanine nucleotide binding protein (G protein), beta polypeptide 4 "WD repeat domain containing|G protein subunits beta" "362|1430" 2003-03-27 2016-03-03 2021-05-26 59345 ENSG00000114450 OTTHUMG00000157440 uc003fjv.5 AF300648 NM_021629 CCDS3230 Q9HAV0 "10644457|11842130" MGI:104581 RGD:1359321 610863 356169 HGNC:20731 "ENST00000232564.8|NM_021629.4" HGNC:20731 +HGNC:4401 GNB5 G protein subunit beta 5 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 GB5 "Guanine nucleotide-binding protein subunit beta-5|Transducin beta chain 5" guanine nucleotide binding protein (G protein), beta 5 "WD repeat domain containing|G protein subunits beta" "362|1430" 1999-07-14 2016-03-03 2021-05-26 10681 ENSG00000069966 OTTHUMG00000131892 uc002abt.2 AF017656 NM_001379343 "CCDS10149|CCDS45261" O14775 9606987 MGI:101848 RGD:620759 604447 HGNC:4401 "ENST00000261837.12|NM_016194.4" HGNC:4401 +HGNC:23657 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Uae1 bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase IBM2 UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase 2003-11-28 2003-12-01 2021-04-13 10020 ENSG00000159921 OTTHUMG00000019899 uc010mlh.5 AF051852 NM_005476 "CCDS55308|CCDS47965|CCDS6602|CCDS55309" Q9Y223 "9305887|9305888" MGI:1354951 RGD:69239 LRG_1197|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1197.xml 603824 122207 "2.7.1.60|3.2.1.183|5.1.3.14" HGNC:23657 "ENST00000642385.2|NM_005476.7" HGNC:23657 +HGNC:4404 GNG2 G protein subunit gamma 2 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 guanine nucleotide binding protein (G protein), gamma 2 G protein subunits gamma 1432 2000-07-31 2016-03-03 2016-10-05 54331 ENSG00000186469 OTTHUMG00000171083 uc059bmt.1 AK001024 NM_001243773 CCDS32082 P59768 10833460 MGI:102705 RGD:69268 606981 HGNC:4404 "ENST00000556766.6|NM_053064.5" +HGNC:4405 GNG3 G protein subunit gamma 3 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "guanine nucleotide-binding protein gamma-3 subunit|NBP gamma-3" guanine nucleotide binding protein (G protein), gamma 3 G protein subunits gamma 1432 1994-11-08 2016-03-03 2016-10-05 2785 ENSG00000162188 OTTHUMG00000167560 uc001nuv.5 AF075042 NM_012202 CCDS8032 P63215 10644457 MGI:102704 RGD:620805 608941 HGNC:4405 "ENST00000294117.6|NM_012202.5" +HGNC:4407 GNG4 G protein subunit gamma 4 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 guanine nucleotide binding protein (G protein), gamma 4 G protein subunits gamma 1432 1995-11-21 2016-03-03 2016-03-03 2786 ENSG00000168243 OTTHUMG00000040740 uc009xfz.4 BC022485 NM_004485 CCDS1607 P50150 7665596 MGI:102703 RGD:620806 604388 HGNC:4407 "ENST00000391854.7|NM_001098722.2" +HGNC:4408 GNG5 G protein subunit gamma 5 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 guanine nucleotide binding protein (G protein), gamma 5 G protein subunits gamma 1432 1994-11-08 2016-03-03 2016-10-05 2787 ENSG00000174021 OTTHUMG00000009858 uc001djw.5 AF038955 NM_005274 CCDS696 P63218 7606925 MGI:109164 RGD:620807 600874 HGNC:4408 "ENST00000370645.9|NM_005274.3" +HGNC:4409 GNG5P1 G protein subunit gamma 5 pseudogene 1 pseudogene pseudogene Approved 6q27 06q27 GNG5P "guanine nucleotide binding protein (G protein), gamma 5 pseudogene|guanine nucleotide binding protein (G protein), gamma 5 pseudogene 1" 1994-11-08 2009-11-25 2016-03-03 2016-03-03 2789 ENSG00000213536 OTTHUMG00000015996 NG_006561 1549114 PGOHUM00000243454 HGNC:4409 +HGNC:24826 GNG5P2 G protein subunit gamma 5 pseudogene 2 pseudogene pseudogene Approved Xq23 Xq23 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2 2007-07-30 2016-03-03 2016-10-05 347687 ENSG00000133136 OTTHUMG00000022193 NG_002699 10819326 HGNC:24826 +HGNC:33552 GNG5P3 G protein subunit gamma 5 pseudogene 3 pseudogene pseudogene Approved 11q23.1 11q23.1 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 3 2007-08-02 2016-03-03 2017-10-25 100101932 ENSG00000254949 OTTHUMG00000166883 NG_006562 PGOHUM00000291131 HGNC:33552 +HGNC:33553 GNG5P4 G protein subunit gamma 5 pseudogene 4 pseudogene pseudogene Approved 2p13.1 02p13.1 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 4 2007-08-02 2016-03-03 2016-10-05 100101933 NG_006563 PGOHUM00000298473 HGNC:33553 +HGNC:33554 GNG5P5 G protein subunit gamma 5 pseudogene 5 pseudogene pseudogene Approved 13q14.2 13q14.2 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 5 2007-08-02 2016-03-03 2016-03-03 100101935 ENSG00000234590 OTTHUMG00000016882 NG_006564 PGOHUM00000248587 HGNC:33554 +HGNC:4410 GNG7 G protein subunit gamma 7 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ00058 guanine nucleotide binding protein (G protein), gamma 7 G protein subunits gamma 1432 1994-11-08 2016-03-03 2016-03-03 2788 ENSG00000176533 OTTHUMG00000180435 uc002lwd.3 AB010414 NM_052847 CCDS12091 O60262 9600093 MGI:95787 RGD:61860 604430 HGNC:4410 "ENST00000382159.8|NM_052847.3" +HGNC:19664 GNG8 G protein subunit gamma 8 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 guanine nucleotide binding protein (G protein), gamma 8 G protein subunits gamma 1432 2002-11-11 2016-03-03 2020-04-01 94235 ENSG00000167414 OTTHUMG00000183430 uc010xyd.3 AF493875 NM_033258 CCDS12687 Q9UK08 10819326 MGI:109163 RGD:620808 HGNC:19664 "ENST00000693335.1|NM_033258.2" +HGNC:4402 GNG10 G protein subunit gamma 10 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 guanine nucleotide binding protein (G protein), gamma 10 G protein subunits gamma 1432 1995-11-21 2016-03-03 2016-03-03 2790 ENSG00000242616 OTTHUMG00000157193 uc004bfp.4 NM_001017998 CCDS35107 P50151 7665596 MGI:1336169 RGD:621514 604389 HGNC:4402 "ENST00000374293.5|NM_001017998.4" +HGNC:49502 GNG10P1 G protein subunit gamma 10 pseudogene 1 pseudogene pseudogene Approved 10q26.2 10q26.2 guanine nucleotide binding protein (G protein), gamma 10 pseudogene 1 2013-12-20 2016-03-03 2016-03-03 100526656 ENSG00000234016 OTTHUMG00000019240 NG_027859 PGOHUM00000238650 HGNC:49502 +HGNC:4403 GNG11 G protein subunit gamma 11 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 GNGT11 "G protein gamma-11 subunit|guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit" guanine nucleotide binding protein (G protein), gamma 11 G protein subunits gamma 1432 1995-11-21 2016-03-03 2016-10-05 2791 ENSG00000127920 OTTHUMG00000023411 uc003und.4 NM_004126 CCDS5634 P61952 7665596 MGI:1913316 RGD:621515 604390 HGNC:4403 "ENST00000248564.6|NM_004126.4" +HGNC:19663 GNG12 G protein subunit gamma 12 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 guanine nucleotide binding protein (G protein), gamma 12 G protein subunits gamma 1432 2002-11-11 2016-03-03 2016-10-05 55970 ENSG00000172380 OTTHUMG00000009545 uc001dea.3 AF119663 NM_018841 CCDS30749 Q9UBI6 10819326 MGI:1336171 RGD:621516 615405 HGNC:19663 "ENST00000370982.4|NM_018841.6" +HGNC:43938 GNG12-AS1 GNG12, DIRAS3 and WLS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 "GNG12 antisense RNA 1 (non-protein coding)|GNG12 antisense RNA 1" Antisense RNAs 1987 2012-05-10 2018-08-22 2018-08-22 100289178 ENSG00000232284 OTTHUMG00000009150 uc001deb.3 NR_040077 "23871723|26832224" 615406 GNG12-AS1 HGNC:43938 +HGNC:14131 GNG13 G protein subunit gamma 13 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "h2-35|G(gamma)13" G gamma subunit, clone:h2-35 guanine nucleotide binding protein (G protein), gamma 13 G protein subunits gamma 1432 2000-12-21 2016-03-03 2016-03-03 51764 ENSG00000127588 OTTHUMG00000047839 uc002ckh.4 AB030207 NM_016541 CCDS10427 Q9P2W3 10570481 MGI:1925616 RGD:1593806 607298 HGNC:14131 "ENST00000248150.5|NM_016541.3" +HGNC:53439 GNG14 G protein subunit gamma 14 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 G protein subunits gamma 1432 2017-04-12 2017-04-12 105372280 ENSG00000283980 OTTHUMG00000192021 NM_001316692 CCDS86708 A0A1W2PPG7 MGI:3645690 RGD:1592634 HGNC:53439 "ENST00000640151.1|NM_001316692.2" +HGNC:4411 GNGT1 G protein subunit gamma transducin 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 GNG1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 G protein subunits gamma 1432 1988-04-28 2016-03-03 2016-03-03 2792 ENSG00000127928 OTTHUMG00000022908 uc003unc.2 NM_021955 CCDS5633 P63211 8661128 MGI:109165 RGD:1595475 189970 HGNC:4411 "ENST00000248572.10|NM_021955.5" +HGNC:4412 GNGT2 G protein subunit gamma transducin 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 GNG9 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 G protein subunits gamma 1432 1988-04-28 2016-03-03 2019-08-20 2793 ENSG00000167083 OTTHUMG00000161308 uc021tzq.2 NM_031498 CCDS11545 O14610 9286705 MGI:893584 RGD:1591007 139391 HGNC:4412 "ENST00000507680.6|NM_001198754.2" +HGNC:4413 GNL1 G protein nucleolar 1 (putative) protein-coding gene gene with protein product Approved 6p21.33 06p21.33 HSR1 guanine nucleotide binding protein-like 1 1995-09-14 2016-03-03 2016-10-05 2794 ENSG00000204590 OTTHUMG00000031137 uc003nqh.4 NM_005275 CCDS4680 P36915 "8180467|22244851" MGI:95764 RGD:1303051 143024 HGNC:4413 "ENST00000376621.8|NM_005275.5" +HGNC:29925 GNL2 G protein nucleolar 2 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "Ngp-1|HUMAUANTIG|Nog2|Nug2" nucleostemin-2 guanine nucleotide binding protein-like 2 (nucleolar) 2004-09-06 2016-03-03 2019-02-08 29889 ENSG00000134697 OTTHUMG00000004322 uc001cbk.4 L05425 NM_013285 CCDS421 Q13823 "8822211|24240281" MGI:2385207 RGD:1305006 609365 HGNC:29925 "ENST00000373062.8|NM_013285.3" +HGNC:50779 GNL2P1 G protein nucleolar 2 pseudogene 1 pseudogene pseudogene Approved 7p12.2 07p12.2 guanine nucleotide binding protein-like 2 (nucleolar) pseudogene 1 2014-06-18 2016-03-03 2016-03-03 100270790 ENSG00000223893 OTTHUMG00000155879 NG_009768 PGOHUM00000232686 HGNC:50779 +HGNC:29931 GNL3 G protein nucleolar 3 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "C77032|E2IG3|MGC800|NS" nucleostemin guanine nucleotide binding protein-like 3 (nucleolar) Small nucleolar RNA protein coding host genes 1835 2005-01-10 2016-03-03 2016-03-03 26354 ENSG00000163938 OTTHUMG00000158752 uc003dfd.4 AK027514 NM_014366 "CCDS2861|CCDS43100" Q9BVP2 "11085516|12464630" MGI:1353651 RGD:631354 608011 HGNC:29931 "ENST00000418458.6|NM_014366.5" +HGNC:25553 GNL3L G protein nucleolar 3 like protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "FLJ10613|GNL3B" G protein nucleolar 3B guanine nucleotide binding protein-like 3 (nucleolar)-like 2005-01-10 2016-03-03 2020-04-02 54552 ENSG00000130119 OTTHUMG00000021629 uc004dth.3 AK001475 NM_019067 CCDS14360 Q9NVN8 "16251348|19487455" MGI:2448557 RGD:1600217 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GNL3L 300873 HGNC:25553 "ENST00000360845.3|NM_001184819.2" +HGNC:25733 GNL3LP1 G protein nucleolar 3 like pseudogene 1 pseudogene pseudogene Approved 5q12.1 05q12.1 FLJ12595 GNL3LP guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 2008-12-19 2010-03-17 2016-03-03 2016-03-03 80060 ENSG00000215032 OTTHUMG00000153832 AK022657 NG_005649 PGOHUM00000235235 HGNC:25733 +HGNC:4414 GNLY granulysin protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "NKG5|LAG-2|D2S69E|TLA519" T-lymphocyte activation gene 519 LAG2 1999-11-22 2016-10-05 10578 ENSG00000115523 OTTHUMG00000130179 uc002sql.5 X54101 NM_006433 "CCDS1984|CCDS77430|CCDS46354" P22749 "2212946|2434598" 188855 HGNC:4414 "ENST00000263863.9|NM_006433.5" +HGNC:4415 GNMT glycine N-methyltransferase protein-coding gene gene with protein product Approved 6p21.1 06p21.1 7BS small molecule methyltransferases 2063 2000-01-21 2021-05-26 27232 ENSG00000124713 OTTHUMG00000014712 uc003otd.4 AF101475 NM_018960 CCDS4876 Q14749 "10843803|9495250" MGI:1202304 RGD:2719 606628 289897 HGNC:4415 "ENST00000372808.4|NM_018960.6" HGNC:4415 +HGNC:4416 GNPAT glyceronephosphate O-acyltransferase protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "DHAPAT|DAPAT|DAP-AT" "glycerone-phosphate O-acyltransferase|dihydroxyacetone phosphate acyltransferase" 1998-10-29 2021-05-26 8443 ENSG00000116906 OTTHUMG00000038024 uc001hup.5 AF043937 NM_001316350 CCDS1592 O15228 "9459311|9536089" MGI:1343460 RGD:620179 602744 122211 2.3.1.42 HGNC:4416 "ENST00000366647.9|NM_014236.4" HGNC:4416 +HGNC:34031 GNPATP glyceronephosphate O-acyltransferase pseudogene pseudogene pseudogene Approved 16q21 16q21 2008-03-20 2020-04-20 100130060 ENSG00000259844 OTTHUMG00000173087 NG_007472 PGOHUM00000293623 HGNC:34031 +HGNC:4417 GNPDA1 glucosamine-6-phosphate deaminase 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "GNPDA|HLN|GPI|KIAA0060" "glucosamine-6-phosphate deaminase|oscillin" GNPI glucosamine-6-phosphate isomerase 1999-09-09 2003-10-22 2003-10-17 2016-10-05 10007 ENSG00000113552 OTTHUMG00000129657 uc010jgh.4 AF048826 NM_005471 CCDS4272 P46926 "9714720|9438414" MGI:1347054 RGD:1585624 601798 3.5.99.6 HGNC:4417 "ENST00000311337.11|NM_005471.5" +HGNC:21526 GNPDA2 glucosamine-6-phosphate deaminase 2 protein-coding gene gene with protein product Approved 4p12 04p12 SB52 glucosamine-6-phosphate isomerase 2003-10-17 2016-10-05 132789 ENSG00000163281 OTTHUMG00000099415 uc003gwy.5 AF247786 NM_138335 "CCDS3469|CCDS59473|CCDS59472" Q8TDQ7 12965206 MGI:1915230 RGD:1305521 613222 3.5.99.6 HGNC:21526 "ENST00000295448.8|NM_138335.3" +HGNC:19980 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "Gpnat1|FLJ10607" GCN5 related N-acetyltransferases 1134 2002-12-13 2014-11-19 64841 ENSG00000100522 OTTHUMG00000152334 uc001xab.4 AK001469 NM_198066 CCDS9712 Q96EK6 MGI:1858963 RGD:1563144 616510 2.3.1.4 HGNC:19980 "ENST00000216410.8|NM_198066.4" HGNC:19980 +HGNC:29670 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "KIAA1208|MGC4170" GNPTA N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits EF-hand domain containing 863 2005-09-11 2018-04-23 2021-05-26 79158 ENSG00000111670 OTTHUMG00000170444 uc001tit.4 AY687932 NM_024312 CCDS9088 Q3T906 "10574462|16116615" MGI:3643902 RGD:1564821 607840 122216 HGNC:29670 "ENST00000299314.12|NM_024312.5" HGNC:29670 +HGNC:23026 GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CAB56184|c316G12.3" GlcNAc-phosphotransferase gamma-subunit "GNPTAG|C16orf27" "N-acetylglucosamine-1-phosphotransferase, gamma subunit|chromosome 16 open reading frame 27" MRH domain containing 1233 2004-02-16 2004-10-01 2018-04-23 2021-05-26 84572 ENSG00000090581 OTTHUMG00000047835 uc002clm.4 BC014592 NM_032520 CCDS10436 Q9UJJ9 10712439 MGI:2147006 RGD:1311614 607838 122221 HGNC:23026 "ENST00000204679.9|NM_032520.5" HGNC:23026 +HGNC:4419 GNRH1 gonadotropin releasing hormone 1 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 progonadoliberin-1 "GRH|GNRH|LHRH" leuteinizing-releasing hormone Neuropeptides 1902 1993-12-15 2015-11-13 2016-10-05 2796 ENSG00000147437 OTTHUMG00000163852 uc064lhq.1 X01059 NM_001083111 CCDS43725 P01148 6090951 MGI:95789 RGD:2720 152760 159628 ligandId:1162 HGNC:4419 "ENST00000421054.7|NM_001083111.2" HGNC:4419 +HGNC:4420 GNRH2 gonadotropin releasing hormone 2 protein-coding gene gene with protein product Approved 20p13 20p13 progonadoliberin-2 gonadotropin-releasing hormone 2 Neuropeptides 1902 1998-01-20 2015-11-13 2019-03-20 2797 ENSG00000125787 OTTHUMG00000031723 uc002whr.2 AF036329 NM_001501 "CCDS13041|CCDS13040|CCDS13042" O43555 "9419371|12447356" 602352 470384 ligandId:1164 HGNC:4420 "ENST00000359100.6|NM_178331.2" +HGNC:4421 GNRHR gonadotropin releasing hormone receptor protein-coding gene gene with protein product Approved 4q13.2 04q13.2 LHRHR GRHR gonadotropin-releasing hormone receptor Gonadotropin releasing hormone receptors 227 1994-01-15 2015-11-13 2021-05-26 2798 ENSG00000109163 OTTHUMG00000129302 uc003hdn.4 NM_000406 "CCDS3517|CCDS47064" P30968 8386108 MGI:95790 RGD:70513 138850 122226 objectId:256 HGNC:4421 "ENST00000226413.5|NM_000406.3" HGNC:4421 +HGNC:16341 GNRHR2 gonadotropin releasing hormone receptor 2 (pseudogene) pseudogene pseudogene Approved 1q21.1 01q21.1 gonadotropin-releasing hormone (type 2) receptor 2 Gonadotropin releasing hormone receptors 227 2001-09-26 2016-01-06 2018-01-12 114814 ENSG00000211451 OTTHUMG00000013742 AF403014 NR_002328 Q96P88 11707068 612875 HGNC:16341 +HGNC:39424 GNRHR2P1 GNRHR2 pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 gonadotropin-releasing hormone (type 2) receptor 2 pseudogene 1 2010-12-08 2015-11-13 2015-11-13 404718 ENSG00000259169 OTTHUMG00000171185 NG_003256 "11707068|11013075" PGOHUM00000264432 HGNC:39424 +HGNC:4422 GNS glucosamine (N-acetyl)-6-sulfatase protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "Sanfilippo disease IIID|N-acetylglucosamine-6-sulfatase" Sulfatases 410 1988-06-09 2008-08-01 2016-10-05 2799 ENSG00000135677 OTTHUMG00000168819 uc001ssg.5 NM_002076 CCDS8970 P15586 MGI:1922862 RGD:1305877 607664 122230 3.1.6.14 HGNC:4422 "ENST00000258145.8|NM_002076.4" HGNC:4422 +HGNC:4424 GOLGA1 golgin A1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "golgin-97|MGC33154" golgi autoantigen, golgin subfamily a, 1 Golgins 1084 1997-11-05 2010-02-12 2016-10-05 2800 ENSG00000136935 OTTHUMG00000020665 uc004bpc.4 U51587 NM_002077 CCDS6860 Q92805 9324025 MGI:1924149 RGD:1311305 602502 HGNC:4424 "ENST00000373555.9|NM_002077.4" +HGNC:4425 GOLGA2 golgin A2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "GM130|golgin-95" "Golgi matrix protein GM130|SY11 protein" golgi autoantigen, golgin subfamily a, 2 Golgins 1084 1997-11-05 2010-02-12 2016-10-05 2801 ENSG00000167110 OTTHUMG00000020732 uc011maw.2 L06147 NM_004486 CCDS6896 Q08379 8315394 MGI:2139395 RGD:620282 602580 HGNC:4425 "ENST00000611957.5|NM_001366244.2" +HGNC:31052 GOLGA2P1 GOLGA2 pseudogene 1 pseudogene pseudogene Approved 8q21.3 08q21.3 golgin A2 pseudogene 1 2004-04-30 2018-04-26 2020-04-20 100418751 ENSG00000205333 OTTHUMG00000160480 NG_026050 PGOHUM00000260414 HGNC:31052 +HGNC:16479 GOLGA2P2Y GOLGA2 pseudogene 2 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "GOLGA2LY1|GOLGA2P2" "golgi autoantigen, golgin subfamily a, 2-like, Y-linked|golgin A2 pseudogene 2|golgin A2 pseudogene 2, Y-linked" 2001-09-21 2010-06-28 2018-04-26 2018-04-26 84559 ENSG00000239533 OTTHUMG00000045074 AF332229 NR_001555 400035 PGOHUM00000263346 HGNC:16479 +HGNC:32426 GOLGA2P3Y GOLGA2 pseudogene 3 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "GOLGA2LY2|GOLGA2P3" "golgi autoantigen, golgin subfamily a, 2-like, Y-linked 2|golgin A2 pseudogene 3|golgin A2 pseudogene 3, Y-linked" 2005-12-16 2010-06-28 2018-04-26 2018-04-26 401634 ENSG00000172297 OTTHUMG00000045281 NR_002195 PGOHUM00000263353 HGNC:32426 +HGNC:38600 GOLGA2P4 GOLGA2 pseudogene 4 pseudogene pseudogene Approved 22q13.2 22q13.2 golgin A2 pseudogene 4 2010-06-28 2018-04-26 2018-04-26 100873742 ENSG00000229608 OTTHUMG00000150747 NG_032207 PGOHUM00000246599 HGNC:38600 +HGNC:25315 GOLGA2P5 GOLGA2 pseudogene 5 pseudogene pseudogene Approved 12q23.1 12q23.1 DKFZp434M0331 "GOLGA2L1|GOLGA2B" "golgi autoantigen, golgin subfamily a, 2-like 1|golgin A2-like 1|golgin A2 family, member B|golgin A2 pseudogene 5" 2006-01-27 2011-09-02 2018-04-26 2021-10-07 55592 ENSG00000238105 OTTHUMG00000167822 AL137720 NR_024261 Q9HBQ8 PGOHUM00000262873 HGNC:25315 +HGNC:44948 GOLGA2P6 GOLGA2 pseudogene 6 pseudogene pseudogene Approved 10p11.23 10p11.23 golgin A2 pseudogene 6 2012-12-19 2018-04-26 2020-04-20 729668 ENSG00000241621 OTTHUMG00000017890 NR_120609 PGOHUM00000258461 HGNC:44948 +HGNC:49516 GOLGA2P7 GOLGA2 pseudogene 7 pseudogene pseudogene Approved 15q25.2 15q25.2 golgin A2 pseudogene 7 2014-01-03 2018-04-26 2018-04-26 388152 ENSG00000225151 OTTHUMG00000133525 NR_027001 HGNC:49516 +HGNC:49922 GOLGA2P8 GOLGA2 pseudogene 8 pseudogene pseudogene Approved 15q26.1 15q26.1 golgin A2 pseudogene 8 2014-03-21 2018-04-26 2018-04-26 728477 ENSG00000214433 OTTHUMG00000163474 NG_023539 PGOHUM00000251229 HGNC:49922 +HGNC:49921 GOLGA2P9 GOLGA2 pseudogene 9 pseudogene pseudogene Approved 19p12 19p12 golgin A2 pseudogene 9 2014-03-21 2018-04-26 2018-04-26 440518 ENSG00000269332 OTTHUMG00000182981 NR_033899 PGOHUM00000263015 HGNC:49921 +HGNC:26229 GOLGA2P10 GOLGA2 pseudogene 10 pseudogene pseudogene Approved 15q25.2 15q25.2 "FLJ22795|AgSK1" antigen SK1, colon cancer-associated golgin A2 pseudogene 10 2014-07-23 2018-04-26 2018-04-26 80154 ENSG00000255769 OTTHUMG00000170549 NR_026811 10746788 HGNC:26229 +HGNC:26788 GOLGA2P11 GOLGA2 pseudogene 11 pseudogene pseudogene Approved 15q22.2 15q22.2 FLJ38723 golgin A2 pseudogene 11 2014-07-23 2018-04-26 2018-04-26 255180 ENSG00000260062 OTTHUMG00000173103 NR_136885 PGOHUM00000262905 HGNC:26788 +HGNC:4426 GOLGA3 golgin A3 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "golgin-160|GCP170|MEA-2" "SY2/SY10 protein|Golgi complex-associated protein of 170 kD" golgi autoantigen, golgin subfamily a, 3 Golgins 1084 1997-11-05 2010-02-12 2010-02-12 2802 ENSG00000090615 OTTHUMG00000168023 uc001ukz.1 AF485338 NM_005895 "CCDS9281|CCDS53846" Q08378 "8315394|15829563" MGI:96958 RGD:1305262 602581 HGNC:4426 "ENST00000450791.8|NM_001389683.1" +HGNC:4427 GOLGA4 golgin A4 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "GOLG|GCP2|p230|golgin-240" golgin 245 golgi autoantigen, golgin subfamily a, 4 Golgins 1084 1997-11-05 2010-02-12 2016-10-05 2803 ENSG00000144674 OTTHUMG00000130799 uc003cgv.4 U31906 NM_002078 "CCDS2666|CCDS54564" Q13439 8626529 MGI:1859646 RGD:1591925 602509 HGNC:4427 "ENST00000361924.7|NM_002078.5" +HGNC:26469 GOLGA4-AS1 GOLGA4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.2 03p22.2 Antisense RNAs 1987 2020-09-29 2020-09-29 152048 ENSG00000270194 NR_149029 12477932 +HGNC:18660 GOLGA4P1 golgin A4 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 GOLGA4 pseudogene 1 2003-03-25 2010-02-12 2020-04-20 192131 NG_001019 HGNC:18660 +HGNC:20727 GOLGA4P2 golgin A4 pseudogene 2 pseudogene pseudogene Approved 14q32.33 14q32.33 GOLGA4 pseudogene 2 2003-09-30 2010-02-12 2020-04-20 192132 NG_001019 HGNC:20727 +HGNC:43786 GOLGA4P3 golgin A4 pseudogene 3 pseudogene pseudogene Approved 14q32.33 14q32.33 2012-03-06 2012-03-06 192130 NG_001019 HGNC:43786 +HGNC:4428 GOLGA5 golgin A5 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "ret-II|golgin-84|rfg5|GOLIM5" golgi integral membrane protein 5 golgi autoantigen, golgin subfamily a, 5 Golgins 1084 1999-04-28 2010-02-12 2012-05-04 9950 ENSG00000066455 OTTHUMG00000171217 uc001yaz.3 AF085199 NM_005113 CCDS9905 Q8TBA6 "2734021|9443391|15004235" MGI:1351475 RGD:1308163 GOLGA5 606918 122232 HGNC:4428 "ENST00000163416.7|NM_005113.4" +HGNC:43925 GOLGA5P1 golgin A5 pseudogene 1 pseudogene pseudogene Approved 5p13.1 05p13.1 2012-05-04 2012-05-04 100418736 ENSG00000251215 OTTHUMG00000162072 NG_024586 PGOHUM00000235195 HGNC:43925 +HGNC:13567 GOLGA6A golgin A6 family member A protein-coding gene gene with protein product Approved 15q24.1 15q24.1 GLP GOLGA6 "golgi autoantigen, golgin subfamily a, member 6|golgi autoantigen, golgin subfamily a, 6|golgi autoantigen, golgin subfamily a, 6A|golgin A6 family, member A" Golgin related 1856 2002-08-30 2009-09-28 2015-11-18 2018-11-15 342096 ENSG00000159289 OTTHUMG00000173035 uc002axa.1 AF263742 NM_001038640 CCDS32290 Q9NYA3 11161787 MGI:2139395 610288 HGNC:13567 "ENST00000290438.3|NM_001038640.2" +HGNC:32205 GOLGA6B golgin A6 family member B protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "golgi autoantigen, golgin subfamily a, 6B|golgin A6 family, member B" Golgin related 1856 2008-01-23 2015-11-18 2015-11-18 55889 ENSG00000215186 OTTHUMG00000133511 uc010uks.2 NM_018652 CCDS10245 A6NDN3 MGI:2139395 HGNC:32205 "ENST00000421285.4|NM_018652.5" +HGNC:32206 GOLGA6C golgin A6 family member C protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "golgi autoantigen, golgin subfamily a, 6C|golgin A6 family, member C" Golgin related 1856 2008-08-06 2015-11-18 2015-11-18 653641 ENSG00000167195 OTTHUMG00000172671 uc002azs.3 NM_001164404 CCDS58388 A6NDK9 MGI:2139395 HGNC:32206 "ENST00000300576.6|NM_001164404.2" +HGNC:32204 GOLGA6D golgin A6 family member D protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "golgi autoantigen, golgin subfamily a, 6D|golgin A6 family, member D" Golgin related 1856 2008-08-06 2009-09-04 2015-11-18 2015-11-18 653643 ENSG00000140478 OTTHUMG00000172672 uc010uma.3 NM_001145224 CCDS45308 P0CG33 MGI:2139395 HGNC:32204 "ENST00000434739.4|NM_001145224.3" +HGNC:55708 GOLGA6EP golgin A6 family member E, pseudogene pseudogene pseudogene Approved 15q24.2 15q24.2 2021-07-05 2021-07-05 441728 ENSG00000187812 XR_932489 PGOHUM00000293301 +HGNC:49206 GOLGA6FP golgin A6 family member F, pseudogene pseudogene pseudogene Approved 15q24.3 15q24.3 2021-07-05 2021-07-05 645752 ENSG00000260776 NR_027024 PGOHUM00000293027 +HGNC:55709 GOLGA6GP golgin A6 family member G, pseudogene pseudogene pseudogene Approved 15q25.1 15q25.1 2021-07-05 2021-07-05 112268142 ENSG00000261303 +HGNC:37444 GOLGA6L1 golgin A6 family like 1 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 golgi autoantigen, golgin subfamily a, 6-like 1 Golgin related 1856 2009-09-28 2019-02-18 2019-02-18 283767 ENSG00000273976 OTTHUMG00000171928 uc032bvr.2 AK097517 NM_001001413 CCDS73699 Q8N7Z2 HGNC:37444 "ENST00000614055.2|NM_001001413.3" +HGNC:26695 GOLGA6L2 golgin A6 family like 2 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "CT105|FLJ36144" cancer/testis antigen 105 golgi autoantigen, golgin subfamily a, 6-like 2 Golgin related 1856 2009-09-28 2019-02-18 2019-02-18 283685 ENSG00000174450 OTTHUMG00000176417 uc059gss.1 AK093463 NM_182561 CCDS76728 Q8N9W4 HGNC:26695 "ENST00000567107.6|NM_001304388.2" +HGNC:37441 GOLGA6L3 golgin A6 family like 3 other unknown Approved 15q25.3 15q25.3 golgi autoantigen, golgin subfamily a, 6-like 3 Golgin related 1856 2009-09-28 2019-02-18 2019-03-06 100133220 ENSG00000188388 OTTHUMG00000163478 AK301968 NM_001310153 A6NEY3 HGNC:37441 +HGNC:27256 GOLGA6L4 golgin A6 family like 4 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 golgi autoantigen, golgin subfamily a, 6-like 4 Golgin related 1856 2009-09-28 2019-02-18 2020-04-20 643707 ENSG00000184206 OTTHUMG00000163050 uc059mrg.1 BC101294 NM_001267536 CCDS73774 A6NEF3 12477932 HGNC:27256 "ENST00000510439.7|NM_001267536.3" +HGNC:30472 GOLGA6L5P golgin A6 family like 5, pseudogene pseudogene pseudogene Approved 15q25.2 15q25.2 "FLJ35171|FLJ40113|GOLGA6L8" golgi autoantigen, golgin subfamily a, 6-like 8 GOLGA6L5 golgi autoantigen, golgin subfamily a, 6-like 5 (pseudogene) Golgin related 1856 2009-09-28 2013-11-05 2019-02-18 2019-02-18 374650 ENSG00000230373 OTTHUMG00000148659 AK097432 NR_003246 HGNC:30472 +HGNC:37225 GOLGA6L6 golgin A6 family like 6 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 FLJ36131 golgi autoantigen, golgin subfamily a, 6-like 6 Golgin related 1856 2009-09-28 2019-02-18 2019-02-18 727832 ENSG00000277322 OTTHUMG00000171663 uc059gpb.1 AK093450 NM_001145004 CCDS45184 A8MZA4 HGNC:37225 "ENST00000619213.1|NM_001145004.2" +HGNC:37442 GOLGA6L7 golgin A6 family like 7 protein-coding gene gene with protein product Approved 15q13.1 15q13.1 GOLGA6L7P "golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)|golgin A6 family-like 7, pseudogene" Golgin related 1856 2009-09-28 2017-08-14 2017-08-14 2017-08-14 728310 ENSG00000261649 OTTHUMG00000176345 AK302238 XR_078490 A0A1B0GV03 PGOHUM00000262221 HGNC:37442 "ENST00000567390.7|NM_001365371.2" +HGNC:37229 GOLGA6L9 golgin A6 family like 9 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 GOLGA6L20 "golgi autoantigen, golgin subfamily a, 6-like 9|golgin A6 family-like 20" Golgin related 1856 2009-09-28 2019-02-18 2020-04-20 440295 ENSG00000197978 OTTHUMG00000170547 uc032clr.2 BC041854 NM_198181 CCDS45326 A6NEM1 HGNC:37229 "ENST00000618348.2|NM_198181.4" +HGNC:37228 GOLGA6L10 golgin A6 family like 10 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 GOLGA6L18 "golgi autoantigen, golgin subfamily a, 6-like 10|golgin A6 family-like 18" Golgin related 1856 2009-09-28 2019-02-18 2019-02-18 647042 ENSG00000278662 OTTHUMG00000172580 uc284nst.1 NM_001164465 CCDS45325 A6NI86 HGNC:37228 "ENST00000610657.2|NM_001164465.3" +HGNC:23958 GOLGA6L11P golgin A6 family like 11, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 GOLGA6L15P golgin A6 family-like 15, pseudogene Golgin related 1856 2010-02-12 2019-02-18 2019-02-18 360024 ENSG00000223698 OTTHUMG00000045042 NG_002946 12815422 PGOHUM00000264416 HGNC:23958 +HGNC:23959 GOLGA6L12P golgin A6 family like 12, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 Golgin related 1856 2010-02-12 2019-02-18 2019-02-18 360025 NG_002945 12815422 HGNC:23959 +HGNC:23960 GOLGA6L13P golgin A6 family like 13, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 golgin A6 family-like 13, pseudogene Golgin related 1856 2010-02-12 2019-02-18 2019-02-18 360026 NG_002944 12815422 HGNC:23960 +HGNC:23961 GOLGA6L14P golgin A6 family like 14, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 Golgin related 1856 2010-02-12 2019-02-18 2021-06-14 360027 NG_002943 12815422 HGNC:23961 +HGNC:38117 GOLGA6L16P golgin A6 family like 16, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 Golgin related 1856 2010-04-20 2019-02-18 2019-02-18 100287845 ENSG00000197092 OTTHUMG00000045260 NG_021930 PGOHUM00000264414 HGNC:38117 +HGNC:49414 GOLGA6L17P golgin A6 family like 17, pseudogene pseudogene pseudogene Approved 15q25.2 15q25.2 GOLGA6L21P golgin A6 family-like 21, pseudogene Golgin related 1856 2013-11-05 2019-02-18 2019-02-18 642402 ENSG00000277741 OTTHUMG00000163391 NR_111962 PGOHUM00000264241 HGNC:49414 +HGNC:49416 GOLGA6L19 golgin A6 family like 19 protein-coding gene gene with protein product Approved 15q25.2 alternate reference locus 15q25.2 alternate reference locus Golgin related 1856 2013-11-05 2019-02-18 2019-02-18 101927601 H0YKK7 +HGNC:50289 GOLGA6L22 golgin A6 family like 22 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 Golgin related 1856 2014-04-01 2019-02-18 2019-02-18 440243 ENSG00000277865 OTTHUMG00000171883 NM_001271664 H0YM25 HGNC:50289 +HGNC:55697 GOLGA6L23P golgin A6 family like 23, pseudogene pseudogene pseudogene Approved 15q13.3 15q13.3 2021-07-05 2021-07-05 100653133 ENSG00000261375 +HGNC:55710 GOLGA6L24P golgin A6 family like 24, pseudogene pseudogene pseudogene Approved 15q13.1 15q13.1 2021-07-05 2021-07-05 645202 ENSG00000237850 +HGNC:55711 GOLGA6L25P golgin A6 family like 25, pseudogene pseudogene pseudogene Approved 15q13.1 15q13.1 2021-07-05 2021-07-05 100132202 ENSG00000227717 +HGNC:24876 GOLGA7 golgin A7 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "GCP16|HSPC041|GOLGA3AP1|GOLGA7A" golgi autoantigen, golgin subfamily a, 7 2004-01-23 2010-02-12 2019-03-12 51125 ENSG00000147533 OTTHUMG00000164077 uc003xnu.4 AF125102 NM_016099 "CCDS55226|CCDS34887" Q7Z5G4 "14522980|16000296" MGI:1931029 RGD:1359725 609453 HGNC:24876 "ENST00000357743.9|NM_001002296.2" +HGNC:31668 GOLGA7B golgin A7 family member B protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "bA459F3.4|bA451M19.3" "C10orf133|C10orf132" "chromosome 10 open reading frame 133|chromosome 10 open reading frame 132|golgi autoantigen, golgin subfamily a, 7B|golgin A7 family, member B" 2004-05-27 2008-10-03 2015-11-18 2015-11-18 401647 ENSG00000155265 OTTHUMG00000018869 uc001kos.4 BC008047 NM_001010917 CCDS31265 Q2TAP0 MGI:1918396 RGD:1583839 614189 HGNC:31668 "ENST00000370602.6|NM_001010917.3" +HGNC:45232 GOLGA7B-DT GOLGA7B divergent transcript non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 LINC00866 long intergenic non-protein coding RNA 866 Divergent transcripts 1990 2013-03-07 2021-07-30 2021-07-30 2021-07-30 100505561 ENSG00000227356 OTTHUMG00000018868 uc031wqj.1 NR_108035 LINC00866 HGNC:45232 +HGNC:31972 GOLGA8A golgin A8 family member A protein-coding gene gene with protein product Approved 15q14 15q14 "GM88|GOLGIN-67|FAP286|CFAP286" "golgi autoantigen, golgin subfamily a, 8A|golgin A8 family, member A" "Cilia and flagella associated|MicroRNA protein coding host genes|Golgin related" "1491|1691|1856" 2005-08-26 2015-11-18 2020-01-28 23015 ENSG00000175265 OTTHUMG00000129447 uc001zii.4 BX648160 NM_181076 CCDS10038 A7E2F4 "10660574|10677249" MGI:2139395 616180 HGNC:31972 "ENST00000359187.5|NM_181077.5" +HGNC:31973 GOLGA8B golgin A8 family member B protein-coding gene gene with protein product Approved 15q14 15q14 "golgi autoantigen, golgin subfamily a, 8B|golgin A8 family, member B" "MicroRNA protein coding host genes|Golgin related" "1691|1856" 2005-08-26 2015-11-18 2015-11-18 440270 ENSG00000215252 OTTHUMG00000129549 uc001ziq.4 AF164622 NM_001023567 CCDS45211 A8MQT2 MGI:2139395 609619 HGNC:31973 "ENST00000683415.1|NM_001023567.5" +HGNC:32375 GOLGA8CP golgin A8 family member C, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 GOLGA8C "golgi autoantigen, golgin subfamily a, 8C|golgin A8 family, member C|golgin A8 family, member C, pseudogene" Golgin related 1856 2005-11-07 2012-10-05 2015-11-18 2015-11-18 729786 ENSG00000181984 OTTHUMG00000171665 NR_027411 A6NN73 12477932 PGOHUM00000261868 HGNC:32375 +HGNC:32376 GOLGA8DP golgin A8 family member D, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 GOLGA8D "golgi autoantigen, golgin subfamily a, 8D|golgin A8 family, member D, pseudogene" Golgin related 1856 2005-11-07 2010-02-12 2015-11-18 2019-09-05 100132979 ENSG00000175676 OTTHUMG00000167132 NR_027407 Q0D2H9 12477932 PGOHUM00000262213 HGNC:32376 +HGNC:32377 GOLGA8EP golgin A8 family member E, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 GOLGA8E "golgi autoantigen, golgin subfamily a, 8E|golgin A8 family, member E|golgin A8 family, member E, pseudogene" Golgin related 1856 2005-11-07 2012-10-05 2015-11-18 2019-09-05 390535 ENSG00000185182 OTTHUMG00000171882 NR_033350.1 12477932 PGOHUM00000264229 HGNC:32377 +HGNC:32378 GOLGA8F golgin A8 family member F protein-coding gene gene with protein product Approved 15q13.1 15q13.1 DKFZp434P162 "golgi autoantigen, golgin subfamily a, 8F|golgin A8 family, member F" Golgin related 1856 2005-11-07 2015-11-18 2017-11-23 100132565 ENSG00000153684 OTTHUMG00000167129 uc059gza.1 NM_001350920 CCDS86437 Q08AF8 12477932 HGNC:32378 "ENST00000526619.7|NM_001350920.2" +HGNC:25328 GOLGA8G golgin A8 family member G protein-coding gene gene with protein product Approved 15q13.1 15q13.1 DKFZp434K052 "golgi autoantigen, golgin subfamily a, 8G|golgin A8 family, member G" Golgin related 1856 2005-11-07 2015-11-18 2017-11-23 283768 ENSG00000183629 OTTHUMG00000167134 uc059gzh.1 NM_001350919 CCDS86439 Q08AF8 12477932 HGNC:25328 "ENST00000525590.3|NM_001350919.3" +HGNC:37443 GOLGA8H golgin A8 family member H protein-coding gene gene with protein product Approved 15q13.2 15q13.2 GOLGA6L11 golgi autoantigen, golgin subfamily a, 6-like 11 golgin A8 family, member H Golgin related 1856 2010-07-02 2015-11-18 2018-11-15 728498 ENSG00000261794 OTTHUMG00000175654 uc032byf.2 NM_001282490 CCDS61576 P0CJ92 MGI:2139395 HGNC:37443 "ENST00000566740.2|NM_001282490.2" +HGNC:26660 GOLGA8IP golgin A8 family member I, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 FLJ35785 "GOLGA9P|GOLGA8I" "golgi autoantigen, golgin subfamily a, 9 pseudogene|golgin A9, pseudogene|golgin A8 family, member I|golgin A8 family, member I, pseudogene" Golgin related 1856 2008-01-23 2014-10-06 2015-11-18 2015-11-18 283796 ENSG00000277561 OTTHUMG00000188601 AK093104 NR_024074 A6NC78 HGNC:26660 +HGNC:38650 GOLGA8J golgin A8 family member J protein-coding gene gene with protein product Approved 15q13.2 15q13.2 golgin A8 family, member J Golgin related 1856 2010-07-02 2015-11-18 2020-04-20 653073 ENSG00000179938 OTTHUMG00000175635 uc021sgy.3 NM_001282472 CCDS61574 A6NMD2 MGI:2139395 HGNC:38650 "ENST00000567927.2|NM_001282472.2" +HGNC:38652 GOLGA8K golgin A8 family member K protein-coding gene gene with protein product Approved 15q13.3 15q13.3 golgin A8 family, member K Golgin related 1856 2012-10-05 2015-11-18 2018-11-15 653125 ENSG00000249931 OTTHUMG00000175395 uc032byu.2 NM_001282493 CCDS61577 D6RF30 MGI:2139395 HGNC:38652 "ENST00000512626.3|NM_001282493.2" +HGNC:44404 GOLGA8M golgin A8 family member M protein-coding gene gene with protein product Approved 15q13.1 15q13.1 golgin A8 family, member M Golgin related 1856 2012-10-05 2015-11-18 2018-11-13 653720 ENSG00000188626 OTTHUMG00000176338 uc021sgq.3 NM_001282468 CCDS61572 H3BSY2 MGI:2139395 HGNC:44404 "ENST00000563027.2|NM_001282468.3" +HGNC:44405 GOLGA8N golgin A8 family member N protein-coding gene gene with protein product Approved 15q13.3 15q13.3 golgin A8 family, member N Golgin related 1856 2012-10-05 2015-11-18 2020-04-20 643699 ENSG00000232653 OTTHUMG00000175401 uc021sin.2 NM_001282494 CCDS61578 F8WBI6 MGI:2139395 HGNC:44405 +HGNC:44406 GOLGA8O golgin A8 family member O protein-coding gene gene with protein product Approved 15q13.3 15q13.3 golgin A8 family, member O Golgin related 1856 2012-10-05 2015-11-18 2015-11-18 728047 ENSG00000206127 OTTHUMG00000162878 uc031qrg.2 NM_001277308 CCDS59252 A6NCC3 MGI:2139395 HGNC:44406 "ENST00000509311.7|NM_001277308.1" +HGNC:44408 GOLGA8Q golgin A8 family member Q protein-coding gene gene with protein product Approved 15q13.2 15q13.2 golgin A8 family, member Q Golgin related 1856 2012-10-05 2015-11-18 2017-11-23 727909 ENSG00000178115 OTTHUMG00000175651 uc059hbl.1 NM_001355476 CCDS86441 H3BV12 HGNC:44408 "ENST00000562783.2|NM_001355476.2" +HGNC:44407 GOLGA8R golgin A8 family member R protein-coding gene gene with protein product Approved 15q13.2 15q13.2 golgin A8 family, member R Golgin related 1856 2012-10-05 2015-11-18 2015-11-18 101059918 ENSG00000186399 OTTHUMG00000175646 uc021shi.3 NM_001282484 CCDS61575 I6L899 HGNC:44407 "ENST00000327271.11|NM_001282484.1" +HGNC:44409 GOLGA8S golgin A8 family member S protein-coding gene gene with protein product Approved 15q11.2 15q11.2 golgin A8 family, member S Golgin related 1856 2012-10-05 2015-11-18 2017-11-23 653061 ENSG00000261739 OTTHUMG00000176415 uc059gsm.1 NM_001355465 H3BPF8 HGNC:44409 +HGNC:44410 GOLGA8T golgin A8 family member T protein-coding gene gene with protein product Approved 15q13.2 15q13.2 golgin A8 family, member T Golgin related 1856 2012-10-05 2015-11-18 2017-11-23 653075 ENSG00000261247 OTTHUMG00000175638 uc059hav.1 NM_001355469 CCDS86440 H3BQL2 HGNC:44410 "ENST00000569052.2|NM_001355469.2" +HGNC:44411 GOLGA8UP golgin A8 family member U, pseudogene pseudogene pseudogene Approved 15q13.2 15q13.2 golgin A8 family, member U, pseudogene Golgin related 1856 2012-10-05 2015-11-18 2015-11-18 100507067 ENSG00000103832 OTTHUMG00000165688 PGOHUM00000257990 +HGNC:49920 GOLGA8VP golgin A8 family member V, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 golgin A8 family, member V, pseudogene Golgin related 1856 2014-03-21 2015-11-18 2015-11-18 441736 ENSG00000259236 OTTHUMG00000172266 NG_032743 PGOHUM00000261182 HGNC:49920 +HGNC:4429 GOLGB1 golgin B1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "GCP|GCP372|giantin|GOLIM1" "macrogolgin|golgi integral membrane protein 1" "golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1|golgin B1, golgi integral membrane protein" Golgins 1084 1997-11-05 2007-07-27 2010-02-12 2016-10-05 2804 ENSG00000173230 OTTHUMG00000159411 uc021xcy.3 X75304 NM_004487 "CCDS58847|CCDS3004" Q14789 "7691276|15004235" MGI:1099447 RGD:708429 602500 HGNC:4429 "ENST00000614479.5|NM_001366282.2" +HGNC:15448 GOLIM4 golgi integral membrane protein 4 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "GPP130|GIMPC|P138" GOLPH4 golgi phosphoprotein 4 2001-04-27 2007-07-30 2007-07-30 2016-10-05 27333 ENSG00000173905 OTTHUMG00000158554 uc003ffe.3 U55853 NM_001308155 "CCDS3204|CCDS77854" O00461 "9201717|15004235" MGI:1920374 RGD:1310948 606805 HGNC:15448 "ENST00000470487.6|NM_014498.5" +HGNC:15451 GOLM1 golgi membrane protein 1 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "GP73|FLJ23608|bA379P1.3" "GOLPH2|C9orf155" "golgi phosphoprotein 2|chromosome 9 open reading frame 155" 2001-04-27 2007-07-30 2007-07-30 2015-08-25 51280 ENSG00000135052 OTTHUMG00000020130 uc004aom.4 AF236056 NM_177937 CCDS35054 Q8NBJ4 "10831838|18953438|22542941" MGI:1917329 RGD:1589384 606804 HGNC:15451 "ENST00000388712.7|NM_016548.4" +HGNC:24892 GOLM2 golgi membrane protein 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "H63|DKFZp459F1927" CASC4 "cancer susceptibility candidate 4|cancer susceptibility 4" 2005-07-11 2020-01-10 2020-01-10 2020-04-03 113201 ENSG00000166734 OTTHUMG00000131133 uc001ztp.4 AF103804 NM_138423 "CCDS10109|CCDS10108" Q6P4E1 "10497265|26431027" MGI:2443129 RGD:1305985 HGNC:24892 "ENST00000299957.11|NM_138423.4" +HGNC:39251 GOLM2P1 GOLM2 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 CASC4P1 "cancer susceptibility candidate 4 pseudogene 1|cancer susceptibility 4 pseudogene 1" 2010-11-24 2021-03-24 2021-03-24 2021-03-24 100420689 ENSG00000238132 OTTHUMG00000016496 NG_024833 PGOHUM00000248312 HGNC:39251 +HGNC:15452 GOLPH3 golgi phosphoprotein 3 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "GPP34|GOPP1|MIDAS|Vps74" "golgi peripheral membrane protein 1, 34 kDa|golgi protein|coat-protein|golgi-associated protein" golgi phosphoprotein 3 (coat-protein) 2001-04-27 2016-01-21 2016-10-05 64083 ENSG00000113384 OTTHUMG00000090679 uc003jhp.2 AK075156 NM_022130 CCDS3896 Q9H4A6 "11042173|16263763" MGI:1913879 RGD:621226 612207 HGNC:15452 "ENST00000265070.7|NM_022130.4" +HGNC:55231 GOLPH3-DT GOLPH3 divergent transcript non-coding RNA RNA, long non-coding Approved 5p13.3 05p13.3 Divergent transcripts 1990 2020-09-16 2020-09-16 118597838 ENSG00000272086 +HGNC:24882 GOLPH3L golgi phosphoprotein 3 like protein-coding gene gene with protein product Approved 1q21.3 01q21.3 GPP34R golgi phosphoprotein 3-like 2004-11-16 2016-01-21 2016-10-05 55204 ENSG00000143457 OTTHUMG00000035009 uc001evj.3 AJ296153 NM_018178 CCDS966 Q9H4A5 MGI:1917129 RGD:1359281 612208 HGNC:24882 "ENST00000271732.8|NM_018178.6" +HGNC:24766 GOLT1A golgi transport 1A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ42654|CGI-141|YMR292W|GOT1|MGC62027" golgi transport 1 homolog A (S. cerevisiae) 2005-02-07 2010-06-24 2019-02-21 127845 ENSG00000174567 OTTHUMG00000036056 uc001has.1 BC058832 NM_198447 CCDS1443 Q6ZVE7 26255816 MGI:1915588 RGD:1566310 470388 HGNC:24766 "ENST00000308302.4|NM_198447.2" +HGNC:20175 GOLT1B golgi transport 1B protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "CGI-141|YMR292W|GOT1" golgi transport 1 homolog B (S. cerevisiae) 2005-02-07 2010-06-24 2016-10-05 51026 ENSG00000111711 OTTHUMG00000169133 uc001rez.3 AB097020 NM_016072 CCDS8689 Q9Y3E0 "12414650|10810093" MGI:1914214 RGD:1310691 615078 470390 HGNC:20175 "ENST00000229314.10|NM_016072.5" +HGNC:25973 GON4L gon-4 like protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ20203|GON-4|YARP" YY1AP related protein GON4 "gon-4 homolog (C.elegans)|gon-4-like (C. elegans)" Myb/SANT domain containing 532 2005-08-22 2006-02-16 2016-03-07 2021-05-26 54856 ENSG00000116580 OTTHUMG00000014106 uc057lsu.1 AB046826 NM_032292 "CCDS60296|CCDS1121|CCDS44242" Q3T8J9 "16545939|21454521" MGI:1917579 RGD:1564691 610393 HGNC:25973 "ENST00000368331.6|NM_001282860.2" +HGNC:20356 GON7 GON7 subunit of KEOPS complex protein-coding gene gene with protein product Approved 14q32.12 14q32.12 C14orf142 "chromosome 14 open reading frame 142|GON7, KEOPS complex subunit homolog|GON7, KEOPS complex subunit" KEOPS complex 1313 2003-01-28 2016-07-08 2019-01-25 2019-01-25 84520 ENSG00000170270 OTTHUMG00000171267 uc001ybl.2 AF277185 NM_032490 CCDS41981 Q9BXV9 "22912744|27903914" MGI:4845848 RGD:2302582 617436 HGNC:20356 "ENST00000306954.5|NM_032490.5" +HGNC:17643 GOPC golgi associated PDZ and coiled-coil motif containing protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "dJ94G16.2|PIST|FIG|GOPC1|CAL" PDZ domain containing 1220 2003-08-29 2016-06-01 2016-10-05 57120 ENSG00000047932 OTTHUMG00000015457 uc003pxv.4 AF287894 NM_020399 "CCDS34523|CCDS5117" Q9HD26 "11162552|11520064" MGI:2149946 RGD:1309512 GOPC 606845 HGNC:17643 "ENST00000368498.7|NM_020399.4" HGNC:17643 +HGNC:25676 GORAB golgin, RAB6 interacting protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "FLJ11752|NTKL-BP1|GO" "gerodermia osteodysplastica|RAB6-interacting golgin" SCYL1BP1 "SCY1-like 1 binding protein 1|golgin, RAB6-interacting" 2005-05-19 2009-02-13 2016-04-06 2016-04-06 92344 ENSG00000120370 OTTHUMG00000035228 uc001gha.3 AK021814 NM_152281 "CCDS1289|CCDS53428" Q5T7V8 "12783284|15781263|18997784" MGI:2138271 RGD:1564990 607983 169953 HGNC:25676 "ENST00000367763.8|NM_152281.3" HGNC:25676 +HGNC:54051 GORAB-AS1 GORAB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q24.2 01q24.2 Antisense RNAs 1987 2018-09-26 2018-09-26 101928650 ENSG00000231407 NR_125958 HGNC:54051 +HGNC:16769 GORASP1 golgi reassembly stacking protein 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "GRASP65|P65|FLJ23443" GOLPH5 "golgi phosphoprotein 5|golgi reassembly stacking protein 1, 65kDa" PDZ domain containing 1220 2001-11-02 2002-05-24 2015-11-09 2016-10-05 64689 ENSG00000114745 OTTHUMG00000131292 uc003ciw.3 AJ409349 NM_031899 "CCDS63597|CCDS63596|CCDS2681" Q9BQQ3 MGI:1921748 RGD:621122 606867 HGNC:16769 "ENST00000319283.8|NM_031899.4" +HGNC:17500 GORASP2 golgi reassembly stacking protein 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "GRASP55|GRS2|GOLPH6" "golgi reassembly stacking protein 2, 55 kDa|golgi reassembly stacking protein 2, 55kDa" PDZ domain containing 1220 2002-05-23 2015-11-09 2015-11-09 26003 ENSG00000115806 OTTHUMG00000154072 uc002ugk.4 NM_001201428 CCDS33325 Q9H8Y8 10487747 MGI:2135962 RGD:619911 608693 HGNC:17500 "ENST00000234160.5|NM_015530.5" +HGNC:4430 GOSR1 golgi SNAP receptor complex member 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "GOS28|P28|GS28|GOS-28|GOLIM2" golgi integral membrane protein 2 SNAREs 1124 1999-04-23 2016-10-05 9527 ENSG00000108587 OTTHUMG00000132796 uc002hfe.4 AF047438 NM_001007024 "CCDS45644|CCDS45643|CCDS11258" O95249 "8638159|9653160|15004235" MGI:1858260 RGD:71093 604026 HGNC:4430 "ENST00000451249.7|NM_001007025.2" +HGNC:4431 GOSR2 golgi SNAP receptor complex member 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "GS27|Bos1" "SNAREs|MicroRNA protein coding host genes" "1124|1691" 1999-04-23 2021-05-26 9570 ENSG00000108433 OTTHUMG00000178080 uc002ila.4 AF007548 NM_001012511 "CCDS86613|CCDS42355|CCDS82148|CCDS86610|CCDS86612|CCDS86611|CCDS45719|CCDS11507|CCDS86609" O14653 "9349823|10198168" MGI:1927204 RGD:62079 604027 280623 HGNC:4431 "ENST00000640051.2|NM_004287.5" HGNC:4431 +HGNC:55346 GOSR2-DT GOSR2 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Divergent transcripts 1990 2020-11-04 2020-11-04 119139904 ENSG00000261886 +HGNC:4432 GOT1 glutamic-oxaloacetic transaminase 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 AST1 "aspartate aminotransferase 1|aspartate transaminase 1|glutamate oxaloacetate transaminase 1" "glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)|glutamic-oxaloacetic transaminase 1, soluble" 2001-06-22 2016-04-05 2016-10-05 2805 ENSG00000120053 OTTHUMG00000018882 uc001kpr.4 M37400 NM_002079 CCDS7479 P17174 1974457 MGI:95791 RGD:2721 138180 470386 2.6.1.1 HGNC:4432 "ENST00000370508.7|NM_002079.3" +HGNC:55848 GOT1-DT GOT1 divergent transcript non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 Divergent transcripts 1990 2021-09-01 2021-09-01 101927300 ENSG00000224934 XR_001747565 +HGNC:28487 GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 MGC33309 2005-09-22 2017-06-13 2019-02-21 137362 ENSG00000169154 OTTHUMG00000164027 uc011lbj.2 BC029504 NM_152413 CCDS47839 Q8NHS2 25646960 MGI:1923865 RGD:1307172 HGNC:28487 "ENST00000307599.5|NM_152413.3" +HGNC:4433 GOT2 glutamic-oxaloacetic transaminase 2 protein-coding gene gene with protein product Approved 16q21 16q21 "mitAAT|KATIV|KAT4|KYAT4" "kynurenine aminotransferase IV|aspartate aminotransferase 2|aspartate transaminase 2" "glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)|glutamic-oxaloacetic transaminase 2, mitochondrial" 2001-06-22 2015-12-04 2020-04-17 2806 ENSG00000125166 OTTHUMG00000133769 uc002eof.2 NM_002080 "CCDS10801|CCDS67045" P00505 17442055 MGI:95792 RGD:2722 138150 "2.6.1.1|2.6.1.7" HGNC:4433 "ENST00000245206.10|NM_002080.4" HGNC:4433 +HGNC:4434 GOT2P1 GOT2 pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2) pseudogene GOT2L1 "glutamic-oxaloacetic transaminase 2-like 1|glutamic-oxaloacetic transaminase 2-like 1 pseudogene|glutamic-oxaloacetic transaminase 2 pseudogene 1" 1990-09-10 2010-05-04 2020-04-17 2020-04-20 645538 ENSG00000231900 OTTHUMG00000008216 NG_008826 PGOHUM00000244732 HGNC:4434 +HGNC:4435 GOT2P2 GOT2 pseudogene 2 pseudogene pseudogene Approved 1q25.1 01q25.1 glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)(GOT2) pseudogene GOT2L2 "glutamic-oxaloacetic transaminase 2-like 2|glutamic-oxaloacetic transaminase 2-like 2 pseudogene|glutamic-oxaloacetic transaminase 2 pseudogene 2" 1990-09-10 2010-05-04 2020-04-17 2020-04-20 391139 ENSG00000230849 OTTHUMG00000034837 NG_008831 PGOHUM00000244339 HGNC:4435 +HGNC:4436 GOT2P3 GOT2 pseudogene 3 pseudogene pseudogene Approved 12p13.31 12p13.31 "GOT2L3|GOT2L3P" "glutamic-oxaloacetic transaminase 2-like 3|glutamic-oxaloacetic transaminase 2-like 3 pseudogene|glutamic-oxaloacetic transaminase 2 pseudogene 3" 2001-06-22 2010-05-04 2020-04-17 2020-04-20 644138 ENSG00000233719 NG_008820 PGOHUM00000239664 HGNC:4436 +HGNC:22936 GOT2P4 GOT2 pseudogene 4 pseudogene pseudogene Approved 12p12.3 12p12.3 GOT2L4 glutamic-oxaloacetic transaminase 2 pseudogene 4 2010-05-04 2020-04-17 2020-04-17 121520 NG_008829 PGOHUM00000239689 HGNC:22936 +HGNC:38439 GOT2P5 GOT2 pseudogene 5 pseudogene pseudogene Approved Yp11.2 Yp11.2 GOT2Y glutamic-oxaloacetic transaminase 2 pseudogene 5 2010-05-04 2020-04-17 2020-04-17 100422625 ENSG00000233634 OTTHUMG00000035295 NG_021934 PGOHUM00000233902 HGNC:38439 +HGNC:54891 GOT2P6 GOT2 pseudogene 6 pseudogene pseudogene Approved Xp11.21 Xp11.21 2020-04-17 2020-04-17 644924 ENSG00000214745 NG_022661 +HGNC:54892 GOT2P7 GOT2 pseudogene 7 pseudogene pseudogene Approved Xp22.2 Xp22.2 2020-04-17 2020-04-17 100422628 ENSG00000232392 NG_026658 +HGNC:4439 GP1BA glycoprotein Ib platelet subunit alpha protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "CD42b|GPIbalpha" platelet glycoprotein Ib alpha chain GP1B glycoprotein Ib (platelet), alpha polypeptide CD molecules 471 1990-09-10 2018-04-23 2021-04-13 2811 ENSG00000185245 OTTHUMG00000177946 uc021tnz.1 NM_000173 CCDS54068 P07359 3353370 MGI:1333744 RGD:1310239 LRG_480|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_480.xml 606672 122237 CD42b HGNC:4439 "ENST00000329125.6|NM_000173.7" HGNC:4439 +HGNC:4440 GP1BB glycoprotein Ib platelet subunit beta protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "CD42c|GPIbbeta" platelet glycoprotein Ib beta chain glycoprotein Ib (platelet), beta polypeptide CD molecules 471 1991-11-21 2018-04-23 2021-04-13 2812 ENSG00000203618 OTTHUMG00000150397 uc062bnf.1 NM_000407 CCDS42980 P13224 3422424 MGI:107852 RGD:621050 LRG_478|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_478.xml 138720 122241 CD42c HGNC:4440 "ENST00000366425.4|NM_000407.5" HGNC:4440 +HGNC:4441 GP2 glycoprotein 2 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 ZAP75 glycoprotein 2 (zymogen granule membrane) 1997-10-09 2016-01-14 2016-01-14 2813 ENSG00000169347 OTTHUMG00000131489 uc002dgw.4 U36221 NM_016295 "CCDS42128|CCDS45433|CCDS10582|CCDS45432" P55259 9605860 MGI:1914383 RGD:621695 602977 HGNC:4441 "ENST00000302555.10|NM_001502.4" +HGNC:4443 GP5 glycoprotein V platelet protein-coding gene gene with protein product Approved 3q29 03q29 CD42d platelet glycoprotein V glycoprotein V (platelet) CD molecules 471 1993-11-03 2016-01-14 2016-01-14 2814 ENSG00000178732 OTTHUMG00000150345 uc062rou.1 L11238 NM_004488 CCDS3307 P40197 7690959 MGI:1096363 RGD:2724 173511 470392 CD42d HGNC:4443 "ENST00000692618.1|NM_004488.2" +HGNC:14388 GP6 glycoprotein VI platelet protein-coding gene gene with protein product Approved 19q13.42 19q13.42 GPVI platelet glycoprotein VI glycoprotein VI (platelet) "Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "594|1410" 2001-01-19 2016-01-14 2021-04-13 51206 ENSG00000088053 OTTHUMG00000159709 uc002qil.4 AB035073 NM_001083899 "CCDS58678|CCDS42626|CCDS46184" Q9HCN6 11027634 MGI:1889810 RGD:1589130 LRG_560|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_560.xml 605546 225404 HGNC:14388 "ENST00000310373.7|NM_001083899.2" HGNC:14388 +HGNC:55305 GP6-AS1 GP6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 Antisense RNAs 1987 2020-10-15 2020-10-15 107985325 ENSG00000267265 XR_001754012 +HGNC:4444 GP9 glycoprotein IX platelet protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "CD42a|GPIX" platelet glycoprotein IX glycoprotein IX (platelet) CD molecules 471 1991-03-04 2016-01-14 2021-04-13 2815 ENSG00000169704 OTTHUMG00000159944 uc003elm.3 NM_000174 CCDS3055 P14770 2253772 MGI:1860137 RGD:1561601 LRG_477|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_477.xml 173515 122244 CD42a HGNC:4444 "ENST00000307395.5|NM_000174.5" HGNC:4444 +HGNC:4445 GPA33 glycoprotein A33 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 A33 glycoprotein A33 (transmembrane) "V-set domain containing|Immunoglobulin like domain containing|IgCAM CXADR-related subfamily" "590|594|1414" 2000-05-05 2016-01-14 2016-01-14 10223 ENSG00000143167 OTTHUMG00000034435 uc001gea.2 U79725 NM_005814 CCDS1258 Q99795 "9012807|9245713" MGI:1891703 RGD:1306711 602171 HGNC:4445 "ENST00000367868.4|NM_005814.3" +HGNC:4446 GPAA1 glycosylphosphatidylinositol anchor attachment 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "GAA1|hGAA1" GPI transamidase subunit "anchor attachment protein 1 (Gaa1p, yeast) homolog|GPAA1P anchor attachment protein 1 homolog (yeast)|glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)" Glycosylphosphatidylinositol transamidase complex 1951 1998-12-09 2012-12-10 2021-05-26 8733 ENSG00000197858 OTTHUMG00000165438 uc003zax.4 AB006969 NM_003801 CCDS43776 O43292 9828142 MGI:1202392 RGD:1303197 603048 HGNC:4446 "ENST00000355091.9|NM_003801.4" HGNC:4446 +HGNC:4447 GPAA1P1 glycosylphosphatidylinositol anchor attachment 1 pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 1999-02-23 2015-01-09 22945 ENSG00000240069 OTTHUMG00000153221 AB017268 NG_001245 10393431 PGOHUM00000298629 HGNC:4447 +HGNC:51484 GPAA1P2 glycosylphosphatidylinositol anchor attachment 1 pseudogene 2 pseudogene pseudogene Approved 2q13 02q13 2015-01-09 2020-04-20 106481722 ENSG00000230596 OTTHUMG00000153194 NG_043395 PGOHUM00000298068 HGNC:51484 +HGNC:20298 GPALPP1 GPALPP motifs containing 1 protein-coding gene gene with protein product Approved 13q14.12 13q14.12 "bA245H20.2|AD029|LSR7" KIAA1704 KIAA1704 2004-04-16 2013-08-12 2013-08-12 2015-08-25 55425 ENSG00000133114 OTTHUMG00000016841 AB051491 NM_018559 CCDS9394 Q8IXQ4 11214970 MGI:1914717 RGD:1307254 HGNC:20298 "ENST00000379151.9|NM_018559.5" +HGNC:24865 GPAM glycerol-3-phosphate acyltransferase, mitochondrial protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "KIAA1560|MGC26846|GPAT1" glycerol-3-phosphate acyltransferase 1, mitochondrial Glycerol-3-phosphate acyltransferases 1035 2004-04-30 2016-10-05 57678 ENSG00000119927 OTTHUMG00000019055 uc001kzp.4 AL832464 NM_020918 CCDS7570 Q9HCL2 "10997877|8369314" MGI:109162 RGD:61847 602395 2.3.1.15 HGNC:24865 "ENST00000348367.9|NM_001244949.2" +HGNC:13920 GPANK1 G-patch domain and ankyrin repeats 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G5|D6S54E|GPATCH10|ANKRD59" "G patch domain containing 10|ankyrin repeat domain 59" BAT4 HLA-B associated transcript 4 "Ankyrin repeat domain containing|G-patch domain containing" "403|579" 2001-07-13 2010-11-24 2015-11-13 2016-10-05 7918 ENSG00000204438 OTTHUMG00000031174 uc003nvq.3 NM_033177 CCDS4711 O95872 "2911734|2813433" MGI:2148975 RGD:1303304 142610 HGNC:13920 "ENST00000375896.9|NM_033177.4" +HGNC:27168 GPAT2 glycerol-3-phosphate acyltransferase 2, mitochondrial protein-coding gene gene with protein product Approved 2q11.2 02q11.2 CT123 cancer/testis antigen 123 Glycerol-3-phosphate acyltransferases 1035 2009-07-15 2018-06-04 150763 ENSG00000186281 OTTHUMG00000155208 uc061luj.1 BC042847 NM_207328 "CCDS42714|CCDS82482" Q6NUI2 "17689486|23611983" MGI:2684962 RGD:1304904 616431 2.3.1.15 HGNC:27168 "ENST00000434632.6|NM_001321527.2" +HGNC:52330 GPAT2P1 glycerol-3-phosphate acyltransferase 2 pseudogene 1 pseudogene pseudogene Approved 2q11.1 02q11.1 2016-07-22 2016-11-21 2016-11-21 643219 ENSG00000237510 OTTHUMG00000155187 NG_021572 PGOHUM00000298572 HGNC:52330 +HGNC:52331 GPAT2P2 glycerol-3-phosphate acyltransferase 2 pseudogene 2 pseudogene pseudogene Approved 2q11.2 02q11.2 2016-07-22 2016-07-22 653924 ENSG00000188383 OTTHUMG00000155331 NG_023357 PGOHUM00000298579 HGNC:52331 +HGNC:28157 GPAT3 glycerol-3-phosphate acyltransferase 3 protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "MGC11324|LPAAT-theta|MAG1|HMFN0839|AGPAT10" lysophosphatidic acid acyltransferase, theta AGPAT9 "1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)|1-acylglycerol-3-phosphate O-acyltransferase 9" "1-acylglycerol-3-phosphate O-acyltransferases|Glycerol-3-phosphate acyltransferases" "46|1035" 2008-01-29 2015-08-03 2015-08-03 2015-08-03 84803 ENSG00000138678 OTTHUMG00000130431 AK055749 NM_032717 CCDS3606 Q53EU6 "12975309|17170135" MGI:3603816 RGD:1565703 610958 2.3.1.15 HGNC:28157 "ENST00000264409.5|NM_032717.5" +HGNC:20880 GPAT4 glycerol-3-phosphate acyltransferase 4 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "DKFZp586M1819|LPAAT-zeta|TSARG7" lysophosphatidic acid acyltransferase, zeta AGPAT6 "1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)|1-acylglycerol-3-phosphate O-acyltransferase 6" "1-acylglycerol-3-phosphate O-acyltransferases|Glycerol-3-phosphate acyltransferases" "46|1035" 2005-07-18 2015-08-03 2015-08-03 2016-10-25 137964 ENSG00000158669 OTTHUMG00000164082 AF406612 NM_178819 CCDS6117 Q86UL3 "12938015|18238778" MGI:2142716 RGD:1310520 608143 2.3.1.15 HGNC:20880 "ENST00000396987.7|NM_178819.4" +HGNC:55539 GPAT4-AS1 GPAT4 and GINS4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p11.21 08p11.21 Antisense RNAs 1987 2021-03-24 2021-03-24 102723729 ENSG00000253133 NR_125824 +HGNC:24658 GPATCH1 G-patch domain containing 1 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "ECGP|FLJ10206|FLJ38686" evolutionarily conserved G patch domain containing GPATC1 "G-patch domain containing|Spliceosomal Bact complex|Spliceosomal C complex" "579|1508|1510" 2004-05-12 2006-12-13 2015-11-13 2016-10-06 55094 ENSG00000076650 OTTHUMG00000180341 uc002nug.2 AF434677 NM_018025 CCDS12428 Q9BRR8 12477932 MGI:1914721 RGD:1308935 HGNC:24658 "ENST00000170564.7|NM_018025.3" +HGNC:25499 GPATCH2 G-patch domain containing 2 protein-coding gene gene with protein product Approved 1q41 01q41 "FLJ10252|CT110|PPP1R30|Pfa1" "cancer/testis antigen 110|protein phosphatase 1, regulatory subunit 30" GPATC2 "G-patch domain containing|Protein phosphatase 1 regulatory subunits|SSU processome" "579|694|1484" 2004-05-12 2006-12-13 2015-11-13 2017-05-26 55105 ENSG00000092978 OTTHUMG00000000527 uc001hlf.2 AK001114 NM_018040 "CCDS73031|CCDS1518" Q9NW75 "19432882|15375528" MGI:1915019 RGD:1308865 616836 HGNC:25499 "ENST00000366935.8|NM_018040.5" +HGNC:20210 GPATCH2L G-patch domain containing 2 like protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ20689|FLJ10033" C14orf118 chromosome 14 open reading frame 118 2003-01-15 2012-09-25 2015-11-13 2015-11-13 55668 ENSG00000089916 OTTHUMG00000171490 uc032bgn.1 AK000696 NM_017926 "CCDS9848|CCDS9849" Q9NWQ4 10574461 MGI:1917623 RGD:1308907 HGNC:20210 "ENST00000261530.12|NM_017926.4" +HGNC:25720 GPATCH3 G-patch domain containing 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ12455 GPATC3 G-patch domain containing 579 2004-12-01 2006-12-13 2015-11-13 2016-10-05 63906 ENSG00000198746 OTTHUMG00000004229 uc001bne.4 BC007767 NM_022078 CCDS290 Q96I76 MGI:2442492 RGD:1311216 617486 HGNC:25720 "ENST00000361720.10|NM_022078.3" +HGNC:25982 GPATCH4 G-patch domain containing 4 (gene/pseudogene) protein-coding gene gene with protein product Approved 1q22-q23.1 01q22-q23.1 "FLJ20249|DKFZP434F1735" GPATC4 G-patch domain containing 4 G-patch domain containing 579 2004-12-01 2006-12-13 2021-10-28 2021-10-28 54865 ENSG00000160818 OTTHUMG00000033203 uc001fpl.4 BC056904 NM_001396855 "CCDS44245|CCDS1146" Q5T3I0 12477932 MGI:1913864 RGD:1311086 HGNC:25982 "ENST00000368232.9|NM_182679.3" +HGNC:29066 GPATCH8 G-patch domain containing 8 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "KIAA0553|GPATC8" KIAA0553 G-patch domain containing 579 2005-12-15 2006-12-13 2015-11-13 2015-11-13 23131 ENSG00000186566 OTTHUMG00000181818 uc002igw.3 AB011125 NM_001002909 CCDS32666 Q9UKJ3 9628581 MGI:1918667 RGD:1596463 614396 HGNC:29066 "ENST00000591680.6|NM_001002909.4" +HGNC:26768 GPATCH11 G-patch domain containing 11 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "FLJ38348|CENPY|CENP-Y" centromere protein Y CCDC75 coiled-coil domain containing 75 G-patch domain containing 579 2006-02-14 2013-01-28 2015-11-13 2016-04-25 253635 ENSG00000152133 OTTHUMG00000128469 uc010ezz.4 AK095667 NM_174931 CCDS62891 Q8N954 MGI:1858435 RGD:1311424 HGNC:26768 "ENST00000674370.2|NM_174931.4" +HGNC:42659 GPATCH11P1 GPATCH11 pseudogene 1 pseudogene pseudogene Approved 3p13 03p13 CCDC75P1 coiled-coil domain containing 75 pseudogene 1 2011-08-12 2021-03-24 2021-03-24 2021-03-24 344709 ENSG00000182921 OTTHUMG00000158866 NG_022207 PGOHUM00000259830 HGNC:42659 +HGNC:19680 GPBAR1 G protein-coupled bile acid receptor 1 protein-coding gene gene with protein product Approved 2q35 02q35 "BG37|GPCR|TGR5|M-BAR|GPCR19|GPR131|MGC40597" G protein-coupled bile acid receptor 933 2003-01-24 2014-11-19 151306 ENSG00000179921 OTTHUMG00000155203 uc061siw.1 AB086170 NM_001077191 CCDS46515 Q8TDU6 12419312 MGI:2653863 RGD:631400 610147 470394 objectId:37 HGNC:19680 "ENST00000519574.2|NM_170699.3" +HGNC:29520 GPBP1 GC-rich promoter binding protein 1 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 DKFZp761C169 vasculin 2005-07-19 2020-03-10 65056 ENSG00000062194 OTTHUMG00000162321 uc003jrh.5 NM_022913 "CCDS47211|CCDS34162|CCDS82998|CCDS56368|CCDS47212" Q86WP2 12842993 MGI:1920524 RGD:1305492 608412 HGNC:29520 "ENST00000506184.7|NM_022913.4" +HGNC:28843 GPBP1L1 GC-rich promoter binding protein 1 like 1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 SP192 GC-rich promoter binding protein 1-like 1 2005-07-19 2016-01-21 2016-01-21 60313 ENSG00000159592 OTTHUMG00000040990 uc001coq.4 NM_021639 CCDS528 Q9HC44 12477932 MGI:1924360 RGD:1359562 HGNC:28843 "ENST00000355105.8|NM_021639.5" +HGNC:4449 GPC1 glypican 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 glypican glypican proteoglycan 1 "Glypicans|MicroRNA protein coding host genes" "572|1691" 1994-06-17 2016-10-05 2817 ENSG00000063660 OTTHUMG00000133349 uc002vyw.5 AK095397 NM_002081 CCDS2534 P35052 7774946 MGI:1194891 RGD:61853 600395 353445 HGNC:4449 "ENST00000264039.7|NM_002081.3" +HGNC:56102 GPC1-AS1 GPC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Antisense RNAs 1987 2022-01-05 2022-01-05 100130449 ENSG00000218416 NR_161169 +HGNC:4450 GPC2 glypican 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "cerebroglycan|FLJ38962|DKFZp547M109" glypican proteoglycan 2, cerebroglycan proteoglycan glypican 2 (cerebroglycan) Glypicans 572 1994-06-17 2007-02-15 2014-11-18 221914 ENSG00000213420 OTTHUMG00000154894 uc003utv.3 BX375153 NM_152742 CCDS5689 Q8N158 8294498 MGI:1919201 RGD:621363 618446 HGNC:4450 "ENST00000292377.4|NM_152742.3" +HGNC:4451 GPC3 glypican 3 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "OCI-5|SGBS|SGBS1|SGB|DGSX" glypican proteoglycan 3 SDYS Glypicans 572 1996-08-08 2021-05-26 2719 ENSG00000147257 OTTHUMG00000022448 uc004exe.4 L47125 NM_004484 "CCDS55496|CCDS14638|CCDS55495" P51654 "8589713|9787072" MGI:104903 RGD:2725 LRG_505|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_505.xml GPC3 300037 122248 objectId:2959 HGNC:4451 "ENST00000370818.8|NM_004484.4" HGNC:4451 +HGNC:52897 GPC3-AS1 GPC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.2 Xq26.2 Antisense RNAs 1987 2017-08-04 2019-08-09 110806308 ENSG00000286096 AF085935 NR_148713 "27573079|31168873" HGNC:52897 +HGNC:4452 GPC4 glypican 4 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 K-glypican glypican proteoglycan 4 Glypicans 572 1996-08-08 2021-05-26 2239 ENSG00000076716 OTTHUMG00000022434 uc004exc.2 AF030186 NM_001448 CCDS14637 O75487 9787072 MGI:104902 RGD:1359399 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPC4 300168 167870 HGNC:4452 "ENST00000370828.4|NM_001448.3" HGNC:4452 +HGNC:4453 GPC5 glypican 5 protein-coding gene gene with protein product Approved 13q31.3 13q31.3 glypican proteoglycan 5 "Glypicans|MicroRNA protein coding host genes" "572|1691" 1996-12-12 2016-10-05 2262 ENSG00000179399 OTTHUMG00000017200 uc010tif.4 AF001462 NM_004466 CCDS9468 P78333 "9070915|20304703|19556317|15057823" MGI:1194894 RGD:1308835 602446 470396 HGNC:4453 "ENST00000377067.9|NM_004466.6" +HGNC:39886 GPC5-AS1 GPC5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 GPC5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2022-02-22 100873969 ENSG00000235984 OTTHUMG00000017199 uc031qmv.1 NR_046520 35183057 GPC5-AS1 HGNC:39886 +HGNC:39887 GPC5-AS2 GPC5 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 GPC5 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2014-11-19 100873970 ENSG00000232885 OTTHUMG00000017197 uc058xtd.1 NR_120382 GPC5-AS2 HGNC:39887 +HGNC:41340 GPC5-IT1 GPC5 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 GPC5 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-04 2015-02-25 2015-02-25 100874293 ENSG00000236240 OTTHUMG00000017198 uc058xte.1 XR_007063833 GPC5-IT1 +HGNC:4454 GPC6 glypican 6 protein-coding gene gene with protein product Approved 13q31.3-q32.1 13q31.3-q32.1 glypican proteoglycan 6 Glypicans 572 1999-05-24 2021-05-26 10082 ENSG00000183098 OTTHUMG00000017205 uc001vlt.4 AF111178 NM_005708 CCDS9469 Q9Y625 10329016 MGI:1346322 RGD:1593308 604404 201551 HGNC:4454 "ENST00000377047.9|NM_005708.5" HGNC:4454 +HGNC:39909 GPC6-AS1 GPC6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 GPC6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100873972 ENSG00000236520 OTTHUMG00000017204 uc032amh.1 NR_046535 GPC6-AS1 HGNC:39909 +HGNC:39910 GPC6-AS2 GPC6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 GPC6 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100873973 ENSG00000224394 OTTHUMG00000017203 uc058xti.1 NR_046536 GPC6-AS2 HGNC:39910 +HGNC:26957 GPCPD1 glycerophosphocholine phosphodiesterase 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "KIAA1434|GDE5|GDPD6" glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 2010-01-19 2015-06-24 2015-06-24 56261 ENSG00000125772 OTTHUMG00000031806 uc002wme.6 NM_019593 CCDS13090 Q9NPB8 "10718198|20576599" MGI:104898 RGD:735140 614124 HGNC:26957 "ENST00000379019.7|NM_019593.5" +HGNC:4455 GPD1 glycerol-3-phosphate dehydrogenase 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 glycerol-3-phosphate dehydrogenase 1 (soluble) 2001-06-22 2015-11-05 2021-05-26 2819 ENSG00000167588 OTTHUMG00000169813 uc001rvz.5 NM_001257199 "CCDS58229|CCDS8799" P21695 MGI:95679 RGD:621381 138420 303828 1.1.1.8 HGNC:4455 "ENST00000301149.8|NM_005276.4" HGNC:4455 +HGNC:28956 GPD1L glycerol-3-phosphate dehydrogenase 1 like protein-coding gene gene with protein product Approved 3p22.3 03p22.3 KIAA0089 2004-07-29 2017-06-13 2021-04-13 23171 ENSG00000152642 OTTHUMG00000155846 uc003cew.4 D42047 NM_015141 CCDS33729 Q8N335 7788527 MGI:1289257 RGD:1560123 LRG_419|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_419.xml 611778 218672 HGNC:28956 "ENST00000282541.10|NM_015141.4" HGNC:28956 +HGNC:4456 GPD2 glycerol-3-phosphate dehydrogenase 2 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) EF-hand domain containing 863 1994-06-16 2015-11-05 2015-11-05 2820 ENSG00000115159 OTTHUMG00000131951 uc002tzf.5 NM_000408 CCDS2202 P43304 MGI:99778 RGD:2726 138430 1.1.1.8 HGNC:4456 "ENST00000438166.7|NM_000408.5" HGNC:4456 +HGNC:4485 GPER1 G protein-coupled estrogen receptor 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "FEG-1|GPCR-Br|LERGU|LERGU2|DRY12|LyGPR|CEPR" "CMKRL2|GPR30|GPER" G protein-coupled receptor 30 G protein-coupled estrogen receptor 934 1997-06-12 2013-08-14 2007-07-03 2016-10-05 2852 ENSG00000164850 OTTHUMG00000023680 U63917 NM_001039966 CCDS5322 Q99527 "9479505|17655271" MGI:1924104 RGD:619845 601805 objectId:221 HGNC:4485 "ENST00000397088.4|NM_001098201.3" +HGNC:18054 GPHA2 glycoprotein hormone subunit alpha 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "GPA2|ZSIG51|A2|MGC126572" "glycoprotein alpha 2|cysteine knot protein|thyrostimulin subunit alpha" glycoprotein hormone alpha 2 Glycoprotein hormone subunits 1896 2002-02-15 2019-05-09 2019-05-09 170589 ENSG00000149735 OTTHUMG00000165631 uc001oca.3 AF260739 NM_130769 CCDS8086 Q96T91 "16210345|12089349" MGI:2156541 RGD:621748 609651 HGNC:18054 "ENST00000279168.7|NM_130769.4" +HGNC:18055 GPHB5 glycoprotein hormone subunit beta 5 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "ZLUT1|GPB5" thyrostimulin subunit beta glycoprotein hormone beta 5 Glycoprotein hormone subunits 1896 2004-07-29 2019-05-09 2019-05-09 122876 ENSG00000179600 OTTHUMG00000168678 uc032bdx.1 AF467770 NM_145171 CCDS73643 Q86YW7 "16210345|12089349" MGI:2156540 RGD:1359264 609652 HGNC:18055 "ENST00000621500.2|NM_145171.4" +HGNC:15465 GPHN gephyrin protein-coding gene gene with protein product Approved 14q23.3 14q23.3 KIAA1385 2001-03-30 2021-05-26 10243 ENSG00000171723 OTTHUMG00000029785 uc001xix.4 AB037806 NM_020806 "CCDS32103|CCDS9777" Q9NQX3 "1319186|10325225|18403029" MGI:109602 RGD:69194 GPHN 603930 122256 HGNC:15465 "ENST00000478722.6|NM_020806.5" HGNC:15465 +HGNC:4458 GPI glucose-6-phosphate isomerase protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "AMF|NLK" glucose phosphate isomerase 2001-06-22 2010-05-11 2021-04-13 2821 ENSG00000105220 OTTHUMG00000182087 uc002nvg.3 M61214 NM_000175 "CCDS12437|CCDS54246|CCDS86742" P06744 "2387591|8575767" MGI:95797 RGD:2727 LRG_1178|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1178.xml 172400 122259 5.3.1.9 HGNC:4458 "ENST00000356487.11|NM_000175.5" HGNC:4458 +HGNC:24945 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "LOC338328|GPI-HBP1" endothelial cell LPL transporter GPI anchored high density lipoprotein binding protein 1 LY6/PLAUR domain containing 1226 2008-02-07 2008-02-07 2021-05-26 338328 ENSG00000277494 OTTHUMG00000164950 uc033cbs.1 AF088057 NM_178172 CCDS34954 Q8IV16 "12496272|17883852|17620854|17403372" MGI:1915703 RGD:1564237 612757 201108 HGNC:24945 "ENST00000622500.2|NM_178172.6" HGNC:24945 +HGNC:30677 GPKOW G-patch domain and KOW motifs protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "T54|GPATC5|GPATCH5|Spp2|Mos2" G patch domain containing 5 "G-patch domain containing|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "579|1498|1508|1510|1516" 2004-05-11 2015-11-13 2020-04-02 27238 ENSG00000068394 OTTHUMG00000021511 uc004dmr.5 U66359 NM_015698 CCDS35251 Q92917 "21880142|22365833" MGI:1859610 RGD:1583600 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPKOW 301003 HGNC:30677 "ENST00000156109.7|NM_015698.6" +HGNC:4459 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 1998-08-21 2016-10-05 2822 ENSG00000112293 OTTHUMG00000016104 uc003ned.3 L11701 NM_001503 CCDS4553 P80108 11072085 MGI:106604 RGD:631371 602515 HGNC:4459 "ENST00000230036.2|NM_001503.4" +HGNC:4460 GPM6A glycoprotein M6A protein-coding gene gene with protein product Approved 4q34.2 04q34.2 GPM6 1996-05-28 2016-10-06 2823 ENSG00000150625 OTTHUMG00000160760 uc003iug.5 NM_001261447 "CCDS58936|CCDS3824|CCDS54822" P51674 "8661015|18574501" MGI:107671 RGD:631368 601275 HGNC:4460 "ENST00000393658.7|NM_201591.3" +HGNC:55577 GPM6A-DT GPM6A divergent transcript non-coding RNA RNA, long non-coding Approved 4q34.2 04q34.2 Divergent transcripts 1990 2021-04-23 2021-04-23 101928590 ENSG00000249106 NR_125901 +HGNC:4461 GPM6B glycoprotein M6B protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "M6B|MGC17150|MGC54284" 1996-06-21 2020-04-02 2824 ENSG00000046653 OTTHUMG00000021162 uc004cwa.4 NM_001001995 "CCDS35206|CCDS14158|CCDS35207|CCDS48084" Q13491 8661015 MGI:107672 RGD:620580 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPM6B|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=GPM6B" 300051 HGNC:4461 "ENST00000316715.9|NM_001001995.3" +HGNC:38782 GPM6BP1 glycoprotein M6B pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 2010-08-03 2014-11-19 106480720 ENSG00000230458 OTTHUMG00000041985 NG_045493 PGOHUM00000233994 HGNC:38782 +HGNC:38781 GPM6BP2 glycoprotein M6B pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 2010-08-03 2014-11-18 106480426 ENSG00000236429 OTTHUMG00000041949 NG_045377 PGOHUM00000233778 HGNC:38781 +HGNC:38783 GPM6BP3 glycoprotein M6B pseudogene 3 pseudogene pseudogene Approved 22q11.1 22q11.1 2010-08-03 2014-11-19 100873787 ENSG00000234121 OTTHUMG00000144175 NG_032217 PGOHUM00000246385 HGNC:38783 +HGNC:17030 GPN1 GPN-loop GTPase 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "NTPBP|MBDIN|ATPBD1A|RPAP4" RNA polymerase II associated protein 4 XAB1 "XPA binding protein 1|XPA binding protein 1, GTPase" GPN-loop GTPases 578 2003-10-14 2008-04-30 2008-04-30 2014-11-19 11321 ENSG00000198522 OTTHUMG00000097784 uc061hra.1 AB044661 NM_007266 "CCDS46250|CCDS46249|CCDS46248" Q9HCN4 "11058119|11124703" MGI:1921504 RGD:1589985 611479 HGNC:17030 "ENST00000610189.2|NM_007266.4" +HGNC:25513 GPN2 GPN-loop GTPase 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ10349 ATPBD1B ATP binding domain 1 family, member B GPN-loop GTPases 578 2005-08-12 2008-04-30 2008-04-30 2015-08-25 54707 ENSG00000142751 OTTHUMG00000004227 uc001bnd.2 AK001211 NM_018066 CCDS289 Q9H9Y4 12975309 MGI:2140368 RGD:1311749 HGNC:25513 "ENST00000374135.9|NM_018066.4" +HGNC:30186 GPN3 GPN-loop GTPase 3 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 MGC14560 ATPBD1C ATP binding domain 1 family, member C GPN-loop GTPases 578 2005-08-12 2008-04-30 2008-04-30 2015-08-25 51184 ENSG00000111231 OTTHUMG00000169524 uc001tqr.4 BC008416 NM_016301 "CCDS9147|CCDS53830|CCDS53831" Q9UHW5 12975309 MGI:1289326 RGD:1303034 HGNC:30186 "ENST00000228827.8|NM_016301.4" +HGNC:44914 GPN3P1 GPN-loop GTPase 3 pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 2012-12-18 2012-12-18 100302689 ENSG00000227465 OTTHUMG00000017834 NG_012769 PGOHUM00000238375 HGNC:44914 +HGNC:4462 GPNMB glycoprotein nmb protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "NMB|HGFIN" "transmembrane glycoprotein|glycoprotein NMB|glycoprotein nmb-like protein|osteoactivin|hematopoietic growth factor inducible neurokinin-1|glycoprotein nonmetastatic melanoma protein B" glycoprotein (transmembrane) nmb 1999-10-26 2016-02-03 2016-10-05 10457 ENSG00000136235 OTTHUMG00000022811 uc003swb.4 X76534 NM_001005340 "CCDS5380|CCDS34610" Q14956 7814155 MGI:1934765 RGD:71008 604368 HGNC:4462 "ENST00000258733.9|NM_002510.3" HGNC:4462 +HGNC:4484 GPR3 G protein-coupled receptor 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 ACCA adenylate cyclase constitutive activator G protein-coupled receptors, Class A orphans 262 1994-07-22 2021-10-25 2827 ENSG00000181773 OTTHUMG00000003397 uc001bod.5 BC032702 NM_005281 CCDS303 P46089 "7851889|7639700" MGI:101908 RGD:628686 600241 470400 objectId:83 HGNC:4484 "ENST00000374024.4|NM_005281.4" +HGNC:4497 GPR4 G protein-coupled receptor 4 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 G protein-coupled receptors, Class A orphans 262 1994-07-25 2016-10-06 2828 ENSG00000177464 OTTHUMG00000182126 uc002pcm.4 BC067536 NM_005282 CCDS12669 P46093 8595909 MGI:2441992 RGD:1311604 600551 objectId:84 HGNC:4497 "ENST00000323040.5|NM_005282.3" +HGNC:4515 GPR6 G protein-coupled receptor 6 protein-coding gene gene with protein product Approved 6q21 06q21 G protein-coupled receptors, Class A orphans 262 1994-07-25 2016-11-09 2830 ENSG00000146360 OTTHUMG00000015354 uc021zds.3 NM_001286099 "CCDS5079|CCDS69172" P46095 8530049 MGI:2155249 RGD:70939 600553 objectId:85 HGNC:4515 "ENST00000275169.5|NM_005284.5" +HGNC:4466 GPR12 G protein-coupled receptor 12 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "GPCR21|PPP1R84" protein phosphatase 1, regulatory subunit 84 "G protein-coupled receptors, Class A orphans|Protein phosphatase 1 regulatory subunits" "262|694" 1995-01-24 2016-10-06 2835 ENSG00000132975 OTTHUMG00000016620 uc010aal.5 U18548 NM_005288 CCDS9319 P47775 "8262253|8530049" MGI:101909 RGD:68333 600752 objectId:86 HGNC:4466 "ENST00000405846.5|NM_005288.4" +HGNC:4469 GPR15 G protein-coupled receptor 15 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 G protein-coupled receptors, Class A orphans 262 1995-08-10 2016-10-05 2838 ENSG00000154165 OTTHUMG00000160017 uc011bgy.3 NM_005290 CCDS2931 P49685 8838812 MGI:1918473 RGD:1306639 601166 objectId:87 HGNC:4469 "ENST00000284311.5|NM_005290.4" +HGNC:4471 GPR17 G protein-coupled receptor 17 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 G protein-coupled receptors, Class A orphans 262 1995-11-21 2016-10-06 2840 ENSG00000144230 OTTHUMG00000131533 uc010yzn.3 NM_001161415 CCDS2148 Q13304 8558062 MGI:3584514 RGD:1589785 603071 objectId:88 HGNC:4471 "ENST00000486700.2|NM_001161417.2" +HGNC:4472 GPR18 G protein-coupled receptor 18 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 G protein-coupled receptors, Class A orphans 262 1995-12-18 2016-10-06 2841 ENSG00000125245 OTTHUMG00000017266 uc058xzd.1 L42324 NM_001098200 CCDS9491 Q14330 9205118 MGI:107859 RGD:1304889 602042 objectId:89 HGNC:4472 "ENST00000397470.5|NM_001098200.2" +HGNC:4473 GPR19 G protein-coupled receptor 19 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 G protein-coupled receptors, Class A orphans 262 1996-08-08 2016-10-06 2842 ENSG00000183150 OTTHUMG00000168705 uc001raq.2 NM_006143 CCDS8652 Q15760 MGI:892973 RGD:71045 602927 objectId:90 HGNC:4473 "ENST00000651487.1|NM_006143.3" +HGNC:4475 GPR20 G protein-coupled receptor 20 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 G protein-coupled receptors, Class A orphans 262 1996-08-16 2016-10-25 2843 ENSG00000204882 OTTHUMG00000164484 uc003ywf.5 U66579 NM_005293 CCDS34949 Q99678 18347022 MGI:2441803 RGD:620034 601908 objectId:91 HGNC:4475 "ENST00000377741.4|NM_005293.3" +HGNC:4476 GPR21 G protein-coupled receptor 21 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 G protein-coupled receptors, Class A orphans 262 1996-08-16 2016-10-05 2844 ENSG00000188394 OTTHUMG00000020631 uc064voc.1 BC066885 NM_005294 CCDS6849 Q99679 MGI:2441890 RGD:1586383 601909 objectId:92 HGNC:4476 "ENST00000616002.3|NM_005294.3" +HGNC:4477 GPR22 G protein-coupled receptor 22 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 G protein-coupled receptors, Class A orphans 262 1996-08-16 2016-10-06 2845 ENSG00000172209 OTTHUMG00000154902 uc003vef.4 U66581 NM_005295 CCDS5744 Q99680 9073069 MGI:1920260 RGD:1310848 601910 objectId:93 HGNC:4477 "ENST00000304402.6|NM_005295.3" +HGNC:4480 GPR25 G protein-coupled receptor 25 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 G protein-coupled receptors, Class A orphans 262 1996-12-27 2015-08-25 2848 ENSG00000170128 OTTHUMG00000035788 uc001gvn.3 U91939 NM_005298 CCDS1405 O00155 9020062 MGI:2686146 RGD:1311611 602174 objectId:95 HGNC:4480 "ENST00000304244.5|NM_005298.4" +HGNC:4481 GPR26 G protein-coupled receptor 26 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 G protein-coupled receptors, Class A orphans 262 1997-02-05 2016-10-05 2849 ENSG00000154478 OTTHUMG00000019204 uc001lhh.4 NM_153442 CCDS7636 Q8NDV2 MGI:2441758 RGD:619843 604847 objectId:96 HGNC:4481 "ENST00000284674.2|NM_153442.4" +HGNC:4482 GPR27 G protein-coupled receptor 27 protein-coding gene gene with protein product Approved 3p13 03p13 SREB1 G protein-coupled receptors, Class A orphans 262 1997-02-05 2016-10-05 2850 ENSG00000170837 OTTHUMG00000158810 uc011bge.3 AB040799 NM_018971 CCDS2915 Q9NS67 10833454 MGI:1202299 RGD:71067 605187 objectId:97 HGNC:4482 "ENST00000304411.3|NM_018971.3" +HGNC:4486 GPR31 G protein-coupled receptor 31 protein-coding gene gene with protein product Approved 6q27 06q27 "HETER1|12-HETER" "hydroxyeicosatetraenoic (HETE) acid receptor 1|12-(S)-HETE acid receptor" G protein-coupled receptors, Class A orphans 262 1997-04-21 2016-10-25 2853 ENSG00000120436 OTTHUMG00000016013 uc011egq.3 U65402 NM_005299 CCDS5299 O00270 "9205127|21712392" MGI:1354372 RGD:1305187 602043 objectId:98 HGNC:4486 "ENST00000366834.2|NM_005299.3" +HGNC:4487 GPR32 G protein-coupled receptor 32 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 RVDR1 resolvin D1 receptor G protein-coupled receptors, Class A orphans 262 1997-06-12 2014-11-19 2854 ENSG00000142511 OTTHUMG00000183079 uc010ycf.3 AF045764 NM_001506 CCDS12801 O75388 9653656 RGD:11496573 603195 objectId:99 HGNC:4487 "ENST00000270590.4|NM_001506.2" +HGNC:4488 GPR32P1 GPR32 pseudogene 1 pseudogene pseudogene Approved 19q13.33 19q13.33 GPR32P "G protein-coupled receptor 32, pseudogene|G protein-coupled receptor 32, pseudogene 1" 1998-07-22 2011-04-14 2019-01-21 2019-01-21 2855 ENSG00000269565 OTTHUMG00000182880 AF045765 NG_001131 Q8NGA4 9653656 PGOHUM00000295404 HGNC:4488 +HGNC:4489 GPR33 G protein-coupled receptor 33 protein-coding gene gene with protein product Approved 14q12 14q12 "G protein-coupled receptor 33, pseudogene|G protein-coupled receptor 33 pseudogene|G protein-coupled receptor 33|G protein-coupled receptor 33 (gene/pseudogene)" G protein-coupled receptors, Class A orphans 262 1997-06-12 2020-05-01 2020-05-01 2856 ENSG00000214943 OTTHUMG00000154921 uc021rsa.3 AF045767 NM_001197184 CCDS73628 Q49SQ1 "9653656|15987686" MGI:1277106 RGD:1306830 610118 objectId:100 HGNC:4489 "ENST00000399285.5|NM_001197184.3" +HGNC:4490 GPR34 G protein-coupled receptor 34 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 G protein-coupled receptors, Class A orphans 262 1997-06-12 2015-08-25 2857 ENSG00000171659 OTTHUMG00000021375 uc004dfp.4 AF039686 NM_005300 CCDS14258 Q9UPC5 "10395919|10036181" MGI:1346334 RGD:1563681 300241 objectId:101 HGNC:4490 "ENST00000378142.9|NM_001097579.2" +HGNC:4492 GPR35 G protein-coupled receptor 35 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 G protein-coupled receptors, Class A orphans 262 1997-06-12 2019-01-08 2859 ENSG00000178623 OTTHUMG00000133356 uc061ujc.1 NM_001195382 "CCDS2541|CCDS56174" Q9HC97 "9479505|30600262" MGI:1929509 RGD:1309404 602646 367100 objectId:102 HGNC:4492 "ENST00000407714.2|NM_005301.5" +HGNC:4493 GPR36 G protein-coupled receptor 36 other unknown Approved reserved reserved 1997-06-12 2013-03-18 2860 +HGNC:4494 GPR37 G protein-coupled receptor 37 protein-coding gene gene with protein product Approved 7q31.33 07q31.33 "EDNRBL|hET(B)R-LP|PAELR" endothelin receptor type B-like G protein-coupled receptor 37 (endothelin receptor type B-like) G protein-coupled receptors, Class A orphans 262 1997-06-12 2016-03-14 2017-05-02 2861 ENSG00000170775 OTTHUMG00000157197 uc003vli.5 NM_005302 CCDS5792 O15354 "9339362|28341812" MGI:1313297 RGD:619848 602583 objectId:103 HGNC:4494 "ENST00000303921.3|NM_005302.5" +HGNC:14923 GPR37L1 G protein-coupled receptor 37 like 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 ETBR-LP-2 G protein-coupled receptors, Class A orphans 262 2001-03-26 2006-02-15 2016-10-05 9283 ENSG00000170075 OTTHUMG00000035924 uc001gxj.4 AJ310210 NM_004767 CCDS1420 O60883 9539149 MGI:1928503 RGD:628835 617630 objectId:104 HGNC:14923 "ENST00000367282.6|NM_004767.5" +HGNC:4496 GPR39 G protein-coupled receptor 39 protein-coding gene gene with protein product Approved 2q21.2 02q21.2 G protein-coupled receptors, Class A orphans 262 1997-08-28 2016-10-05 2863 ENSG00000183840 OTTHUMG00000131679 uc002ttl.4 AF034633 NM_001508 CCDS2170 O43194 9441746 MGI:1918361 RGD:1306745 602886 objectId:105 HGNC:4496 "ENST00000329321.4|NM_001508.3" +HGNC:4500 GPR42 G protein-coupled receptor 42 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "GPR41L|FFAR3L" GPR42P "G protein-coupled receptor 42 pseudogene|G protein-coupled receptor 42 (gene/pseudogene)" G protein-coupled receptors, Class A orphans 262 1997-10-10 2010-02-09 2020-05-01 2020-05-01 2866 ENSG00000126251 OTTHUMG00000157124 uc021usn.2 AF024689 NM_005305 O15529 "9344866|19630535" MGI:2685324 603822 objectId:228 HGNC:4500 "ENST00000454971.3|NM_001348195.2" +HGNC:4503 GPR45 G protein-coupled receptor 45 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "PSP24|PSP24A" G protein-coupled receptors, Class A orphans 262 1999-03-12 2016-10-05 11250 ENSG00000135973 OTTHUMG00000130805 uc002tco.2 AF118266 NM_007227 CCDS2066 Q9Y5Y3 10036181 MGI:2135882 RGD:1306253 604838 objectId:106 HGNC:4503 "ENST00000258456.3|NM_007227.3" +HGNC:4506 GPR50 G protein-coupled receptor 50 protein-coding gene gene with protein product Approved Xq28 Xq28 "H9|Mel1c" G protein-coupled receptors, Class A orphans 262 1999-03-09 2020-04-02 9248 ENSG00000102195 OTTHUMG00000024166 uc010ntg.3 U52219 NM_004224 CCDS44012 Q13585 "9933574|18400093" MGI:1333877 RGD:619863 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR50 300207 objectId:107 HGNC:4506 "ENST00000218316.4|NM_004224.3" +HGNC:40259 GPR50-AS1 GPR50 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 GPR50 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100128688 ENSG00000234696 OTTHUMG00000024165 uc065bpq.1 NR_135300 GPR50-AS1 HGNC:40259 +HGNC:4508 GPR52 G protein-coupled receptor 52 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 G protein-coupled receptors, Class A orphans 262 1999-03-12 2016-10-05 9293 ENSG00000203737 OTTHUMG00000034901 uc001gka.2 AF096784 NM_005684 CCDS30941 Q9Y2T5 9931487 MGI:3643278 RGD:1587949 604106 objectId:108 HGNC:4508 "ENST00000367685.5|NM_005684.5" +HGNC:4509 GPR53P G protein-coupled receptor 53, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "PsiGPR53|dJ271M21.8" 1999-03-12 2014-06-26 9292 ENSG00000229281 OTTHUMG00000031126 AF096785 NG_001217 9931487 PGOHUM00000243122 HGNC:4509 +HGNC:4511 GPR55 G protein-coupled receptor 55 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 G protein-coupled receptors, Class A orphans 262 1999-03-12 2016-10-05 9290 ENSG00000135898 OTTHUMG00000133224 uc010fxs.2 AF096786 NM_005683 CCDS2480 Q9Y2T6 9931487 MGI:2685064 RGD:1559828 604107 objectId:109 HGNC:4511 "ENST00000650999.1|NM_005683.4" +HGNC:13300 GPR61 G protein-coupled receptor 61 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 BALGR G protein-coupled receptors, Class A orphans 262 2001-11-26 2019-08-02 83873 ENSG00000156097 OTTHUMG00000011633 uc057izm.1 AF317652 NM_031936 CCDS801 Q9BZJ8 "11165367|11690637" MGI:2441719 RGD:1310176 606916 objectId:110 HGNC:13300 "ENST00000527748.5|NM_001393907.1" +HGNC:13301 GPR62 G protein-coupled receptor 62 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 G protein-coupled receptors, Class A orphans 262 2001-11-26 2016-10-05 118442 ENSG00000180929 OTTHUMG00000157367 uc003dca.4 AF317653 NM_080865 CCDS2838 Q9BZJ7 11165367 MGI:3525078 RGD:1560166 606917 objectId:111 HGNC:13301 "ENST00000322241.6|NM_080865.4" +HGNC:13302 GPR63 G protein-coupled receptor 63 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "PSP24(beta)|PSP24B" G protein-coupled receptors, Class A orphans 262 2001-04-05 2016-10-06 81491 ENSG00000112218 OTTHUMG00000015245 uc003pou.4 AF317654 NM_001143957 CCDS5036 Q9BZJ6 MGI:2135884 RGD:1306460 606915 objectId:112 HGNC:13302 "ENST00000229955.4|NM_030784.4" +HGNC:4517 GPR65 G protein-coupled receptor 65 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "hTDAG8|TDAG8" G protein-coupled receptors, Class A orphans 262 1999-10-22 2016-10-06 8477 ENSG00000140030 OTTHUMG00000028648 uc001xvv.3 U95218 NM_003608 CCDS9879 Q8IYL9 9655242 MGI:108031 RGD:1311832 604620 objectId:113 HGNC:4517 "ENST00000267549.5|NM_003608.4" +HGNC:4519 GPR68 G protein-coupled receptor 68 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 OGR1 G protein-coupled receptors, Class A orphans 262 1999-10-22 2016-10-24 8111 ENSG00000119714 OTTHUMG00000167590 uc001xzh.4 U48405 NM_001177676 CCDS9894 Q15743 8661159 MGI:2441763 RGD:1309559 601404 474467 objectId:114 HGNC:4519 "ENST00000650645.1|NM_001177676.2" HGNC:4519 +HGNC:4526 GPR75 G protein-coupled receptor 75 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 WI-31133 G protein-coupled receptors, Class A orphans 262 1999-10-22 2016-10-05 10936 ENSG00000119737 OTTHUMG00000129280 uc002rxo.4 AF101472 NM_006794 CCDS1849 O95800 10381362 MGI:2441843 RGD:1566385 606704 objectId:115 HGNC:4526 "ENST00000394705.3|NM_006794.4" +HGNC:40043 GPR75-ASB3 GPR75-ASB3 readthrough other readthrough Approved 2p16.2 02p16.2 MicroRNA protein coding host genes 1691 2011-05-05 2016-10-05 100302652 ENSG00000270898 OTTHUMG00000129279 uc061jcz.2 NM_001164165 MGI:1929749 HGNC:40043 +HGNC:4528 GPR78 G protein-coupled receptor 78 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 G protein-coupled receptors, Class A orphans 262 2000-01-20 2014-11-19 27201 ENSG00000155269 OTTHUMG00000128483 uc003glk.5 AF411107 NM_080819 CCDS3403 Q96P69 11574155 606921 objectId:116 HGNC:4528 "ENST00000382487.5|NM_080819.5" +HGNC:4529 GPR79 G protein-coupled receptor 79, pseudogene pseudogene pseudogene Approved 3q25.32 03q25.32 GPR79P G protein-coupled receptors, Class A orphans 262 2000-01-20 2011-04-14 2012-08-21 27200 ENSG00000232374 OTTHUMG00000158842 AF411108 NG_001272 "11574155|19146662" PGOHUM00000250268 HGNC:4529 +HGNC:4533 GPR82 G protein-coupled receptor 82 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 G protein-coupled receptors, Class A orphans 262 2000-01-20 2020-04-02 27197 ENSG00000171657 OTTHUMG00000021373 uc004dft.3 AF411111 NM_080817 CCDS14259 Q96P67 11574155 MGI:2441734 RGD:2318147 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR82 300748 objectId:118 HGNC:4533 "ENST00000302548.5|NM_080817.5" +HGNC:4523 GPR83 G protein-coupled receptor 83 protein-coding gene gene with protein product Approved 11q21 11q21 GPR72 G protein-coupled receptor 72 G protein-coupled receptors, Class A orphans 262 1999-07-30 2003-08-01 2003-07-30 2015-09-07 10888 ENSG00000123901 OTTHUMG00000167779 uc001pet.2 AF236081 NM_016540 "CCDS8297|CCDS81616" Q9NYM4 "10760605|11060465" MGI:95712 RGD:619891 605569 objectId:119 HGNC:4523 "ENST00000243673.7|NM_016540.4" +HGNC:4535 GPR84 G protein-coupled receptor 84 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 EX33 G protein-coupled receptors, Class A orphans 262 2000-05-23 2016-10-24 53831 ENSG00000139572 OTTHUMG00000169839 uc058owr.1 AF237762 NM_020370 CCDS8878 Q9NQS5 11273702 MGI:1934129 RGD:1585277 606383 objectId:120 HGNC:4535 "ENST00000267015.4|NM_020370.3" +HGNC:56187 GPR84-AS1 GPR84, ZNF385A, ITGA5 and GTSF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Antisense RNAs 1987 2022-01-17 2022-01-17 102724050 ENSG00000258086 NR_120488 +HGNC:4536 GPR85 G protein-coupled receptor 85 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 SREB2 G protein-coupled receptors, Class A orphans 262 2000-05-23 2016-10-06 54329 ENSG00000164604 OTTHUMG00000156933 uc003vgq.3 AF250237 NM_001146265 CCDS5758 P60893 "10978537|10833454" MGI:1927851 RGD:71011 605188 objectId:121 HGNC:4536 "ENST00000424100.2|NM_001146267.2" +HGNC:4538 GPR87 G protein-coupled receptor 87 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 GPR95 G protein-coupled receptors, Class A orphans 262 2000-05-23 2016-10-06 53836 ENSG00000138271 OTTHUMG00000159858 uc003eyt.4 AF237763 NM_023915 CCDS3157 Q9BY21 11273702 MGI:1934133 RGD:1307852 606379 objectId:122 HGNC:4538 "ENST00000260843.5|NM_023915.4" +HGNC:4539 GPR88 G protein-coupled receptor 88 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "G-protein coupled receptor 88|G protein coupled receptor 88" G protein-coupled receptors, Class A orphans 262 2000-06-02 2006-02-15 2016-10-05 54112 ENSG00000181656 OTTHUMG00000010981 uc001dth.4 AB042411 NM_022049 CCDS772 Q9GZN0 MGI:1927653 RGD:61921 607468 objectId:123 HGNC:4539 "ENST00000315033.5|NM_022049.3" HGNC:4539 +HGNC:31984 GPR89A G protein-coupled receptor 89A protein-coding gene gene with protein product Approved 1q21.1 01q21.1 UNQ192 7TM uncharacterized proteins 310 2006-02-13 2007-06-06 2007-06-06 2015-08-27 653519 ENSG00000117262 OTTHUMG00000013738 uc001eot.3 AB097024 NM_001097612 "CCDS72857|CCDS72858" B7ZAQ6 MGI:1914799 612821 HGNC:31984 "ENST00000313835.14|NM_001097612.2" +HGNC:13840 GPR89B G protein-coupled receptor 89B protein-coding gene gene with protein product Approved 1q21.2 01q21.2 SH120 "GPR89|GPR89C" "G protein-coupled receptor 89|G protein-coupled receptor 89C" 7TM uncharacterized proteins 310 2004-07-28 2007-06-06 2007-06-06 2016-10-05 51463 ENSG00000188092 OTTHUMG00000013452 uc001epv.5 U78723 NM_016334 CCDS930 P0CG08 11042152 MGI:1914799 RGD:1304837 612806 HGNC:13840 "ENST00000314163.12|NM_016334.5" +HGNC:13951 GPR89P G protein-coupled receptor 89 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 C11H1.2-Lp 2004-01-16 2016-10-06 394254 ENSG00000216915 OTTHUMG00000014481 NG_000934 PGOHUM00000301282 HGNC:13951 +HGNC:14963 GPR101 G protein-coupled receptor 101 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 G protein-coupled receptors, Class A orphans 262 2001-04-23 2021-04-13 83550 ENSG00000165370 OTTHUMG00000022521 uc011mwh.2 AF411115 NM_054021 CCDS14662 Q96P66 11574155 MGI:2685211 RGD:1564196 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR101|LRG_1000|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1000.xml" 300393 420409 objectId:125 HGNC:14963 "ENST00000651716.2|NM_054021.2" HGNC:14963 +HGNC:17830 GPR107 G protein-coupled receptor 107 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KIAA1624|RP11-88G17|FLJ20998|LUSTR1" 7TM uncharacterized proteins 310 2002-01-29 2016-10-06 57720 ENSG00000148358 OTTHUMG00000020804 uc004bzd.3 AF376725 NM_001136557 "CCDS35162|CCDS48041|CCDS48042" Q5VW38 MGI:2139054 RGD:1305882 618490 objectId:651 HGNC:17830 "ENST00000347136.11|NM_020960.5" +HGNC:17829 GPR108 G protein-coupled receptor 108 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 LUSTR2 "7TM uncharacterized proteins|MicroRNA protein coding host genes" "310|1691" 2002-01-29 2016-11-09 56927 ENSG00000125734 OTTHUMG00000170129 uc002mfp.4 NM_001080452 "CCDS42479|CCDS45940" Q9NPR9 MGI:1925558 RGD:735149 618491 HGNC:17829 "ENST00000264080.12|NM_001080452.2" +HGNC:19060 GPR119 G protein-coupled receptor 119 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "hGPCR2|GPCR2" G protein-coupled receptors, Class A orphans 262 2003-11-26 2020-04-02 139760 ENSG00000147262 OTTHUMG00000022397 uc011muv.3 AY288416 NM_178471 CCDS14625 Q8TDV5 "12044878|14623098" MGI:2668412 RGD:727808 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR119 300513 objectId:126 HGNC:19060 "ENST00000682440.1|NM_178471.3" +HGNC:17482 GPR132 G protein-coupled receptor 132 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 G2A G2 accumulation G protein-coupled receptors, Class A orphans 262 2003-12-10 2016-10-05 29933 ENSG00000183484 OTTHUMG00000140173 uc001yqd.5 AF083955 NM_013345 "CCDS9997|CCDS61567" Q9UNW8 12086852 MGI:1890220 RGD:1310817 606167 objectId:128 HGNC:17482 "ENST00000329797.8|NM_013345.4" +HGNC:19991 GPR135 G protein-coupled receptor 135 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "HUMNPIIY20|PAFR" G protein-coupled receptors, Class A orphans 262 2003-11-26 2015-08-25 64582 ENSG00000181619 OTTHUMG00000140325 uc010apj.4 AY288418 NM_022571 CCDS9738 Q8IZ08 14623098 MGI:2676315 RGD:727844 607970 objectId:129 HGNC:19991 "ENST00000395116.2|NM_022571.6" +HGNC:24300 GPR137 G protein-coupled receptor 137 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "C11orf4|GPR137A|TM7SF1L1" 7TM uncharacterized proteins 310 2006-01-26 2006-01-26 2014-11-19 56834 ENSG00000173264 OTTHUMG00000167817 uc058cvw.1 AJ250392 NM_020155 "CCDS8066|CCDS53656|CCDS53657|CCDS53658" Q96N19 "10873569|12732197" MGI:2147529 RGD:1586317 objectId:652 HGNC:24300 "ENST00000438980.7|NM_001170880.2" +HGNC:11862 GPR137B G protein-coupled receptor 137B protein-coding gene gene with protein product Approved 1q42.3 01q42.3 TM7SF1 transmembrane 7 superfamily member 1 (upregulated in kidney) 7TM uncharacterized proteins 310 1997-10-27 2006-01-26 2006-01-26 2016-10-05 7107 ENSG00000077585 OTTHUMG00000037994 uc001hxq.3 AF027826 NM_003272 CCDS1609 O60478 9521871 MGI:1891463 RGD:1307342 604658 HGNC:11862 "ENST00000366592.8|NM_003272.4" +HGNC:25445 GPR137C G protein-coupled receptor 137C protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "DKFZp762F0713|TM7SF1L2" 7TM uncharacterized proteins 310 2006-01-26 2020-04-01 283554 ENSG00000180998 OTTHUMG00000171104 uc001wzu.4 BX647179 NM_001099652 CCDS45106 Q8N3F9 MGI:1917963 RGD:1563070 HGNC:25445 "ENST00000321662.11|NM_001099652.2" +HGNC:19995 GPR139 G protein-coupled receptor 139 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 PGR3 G protein-coupled receptors, Class A orphans 262 2004-05-26 2016-10-06 124274 ENSG00000180269 OTTHUMG00000177690 uc002dgu.2 AY255545 NM_001002911 CCDS32398 Q6DWJ6 "26349500|26396690" MGI:2685341 RGD:1311729 618448 objectId:130 HGNC:19995 "ENST00000570682.2|NM_001002911.4" +HGNC:19997 GPR141 G protein-coupled receptor 141 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 PGR13 G protein-coupled receptors, Class A orphans 262 2003-11-26 2014-11-19 353345 ENSG00000187037 OTTHUMG00000102105 uc064cwu.1 AY288420 NM_181791 CCDS5451 Q7Z602 "12679517|14623098" MGI:2672983 RGD:727906 609045 objectId:131 HGNC:19997 "ENST00000334425.2|NM_001381946.1" +HGNC:53813 GPR141BP G protein-coupled receptor 141B, pseudogene pseudogene pseudogene Approved 7p14.1 07p14.1 2018-06-06 2018-06-06 100420413 ENSG00000283444 OTTHUMG00000191699 NG_026555 MGI:2441809 PGOHUM00000302589 HGNC:53813 +HGNC:20088 GPR142 G protein-coupled receptor 142 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 PGR2 G protein-coupled receptors, Class A orphans 262 2003-11-26 2016-10-06 350383 ENSG00000257008 OTTHUMG00000178581 uc032fqt.2 AY255622 NM_181790 CCDS11698 Q7Z601 14623098 MGI:2668437 RGD:1559926 609046 objectId:132 HGNC:20088 "ENST00000582579.6|NM_001331076.1" +HGNC:20145 GPR143 G protein-coupled receptor 143 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 ocular albinism 1 OA1 ocular albinism 1 (Nettleship-Falls) 7TM uncharacterized proteins 310 2003-12-01 2003-12-01 2016-10-05 4935 ENSG00000101850 OTTHUMG00000021118 uc004cst.3 Z48804 NM_000273 CCDS14134 P51810 "7647783|10471510" MGI:107193 RGD:1565799 "Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the OA1 Gene|http://www.retina-international.org/files/sci-news/oa1mut.htm" 300808 122263 objectId:203 HGNC:20145 "ENST00000467482.6|NM_000273.3" HGNC:20145 +HGNC:18499 GPR143P G protein-coupled receptor 143 pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 GPR143Y OA1P ocular albinism 1 (Nettleship-Falls) Y-linked pseudogene 2002-05-22 2003-12-01 2003-12-01 2021-04-20 352896 ENSG00000232583 OTTHUMG00000035300 NG_002814 12815422 HGNC:18499 +HGNC:21718 GPR146 G protein-coupled receptor 146 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 PGR8 G protein-coupled receptors, Class A orphans 262 2003-07-14 2015-09-10 115330 ENSG00000164849 OTTHUMG00000023934 uc003sjx.5 BC014241 NM_138445 CCDS5321 Q96CH1 MGI:1933113 RGD:1560731 objectId:133 HGNC:21718 "ENST00000444847.2|NM_001303473.2" +HGNC:23623 GPR148 G protein-coupled receptor 148 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 PGR6 G protein-coupled receptors, Class A orphans 262 2003-11-25 2018-11-15 344561 ENSG00000173302 OTTHUMG00000131655 uc002trv.2 AY255532 NM_207364 CCDS2163 Q8TDV2 12679517 objectId:134 HGNC:23623 "ENST00000309926.4|NM_207364.2" +HGNC:23627 GPR149 G protein-coupled receptor 149 protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "PGR10|IEDA|R35" G protein-coupled receptors, Class A orphans 262 2003-11-25 2018-11-16 344758 ENSG00000174948 OTTHUMG00000159131 uc003faa.3 AY255534 NM_001038705 CCDS43162 Q86SP6 "11161467|12679517" MGI:2443628 RGD:619890 objectId:135 HGNC:23627 "ENST00000389740.3|NM_001038705.3" +HGNC:23628 GPR150 G protein-coupled receptor 150 protein-coding gene gene with protein product Approved 5q15 05q15 PGR11 G protein-coupled receptors, Class A orphans 262 2003-11-26 2014-11-19 285601 ENSG00000178015 OTTHUMG00000121170 uc003kle.2 BC030197 NM_199243 CCDS4074 Q8NGU9 12679517 MGI:2441872 RGD:1564729 objectId:136 HGNC:23628 "ENST00000380007.3|NM_199243.3" +HGNC:23624 GPR151 G protein-coupled receptor 151 protein-coding gene gene with protein product Approved 5q32 05q32 "PGR7|GALR4" galanin receptor 4 G protein-coupled receptors, Class A orphans 262 2003-11-26 2016-10-25 134391 ENSG00000173250 OTTHUMG00000163444 uc003lod.2 AY255557 NM_194251 CCDS34266 Q8TDV0 12679517 MGI:2441887 RGD:727873 618487 objectId:137 HGNC:23624 "ENST00000311104.3|NM_194251.3" +HGNC:23622 GPR152 G protein-coupled receptor 152 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 PGR5 G protein-coupled receptors, Class A orphans 262 2003-11-26 2014-11-19 390212 ENSG00000175514 OTTHUMG00000168032 uc001olm.3 AY255600 NM_206997 CCDS8165 Q8TDT2 12679517 MGI:2685519 RGD:1584082 objectId:138 HGNC:23622 "ENST00000312457.2|NM_206997.1" +HGNC:23618 GPR153 G protein-coupled receptor 153 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 PGR1 G protein-coupled receptors, Class A orphans 262 2003-11-26 2015-08-25 387509 ENSG00000158292 OTTHUMG00000001272 uc001amp.2 AY255529 NM_207370 CCDS64 Q6NV75 12679517 MGI:1916157 RGD:1564170 614269 objectId:139 HGNC:23618 "ENST00000377893.3|NM_207370.4" +HGNC:22951 GPR155 G protein-coupled receptor 155 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "DEPDC3|DEP.7|FLJ31819|PGR22" 2003-11-26 2015-08-25 151556 ENSG00000163328 OTTHUMG00000132336 uc002uiu.5 AY255528 NM_152529 "CCDS2259|CCDS74605" Q7Z3F1 12679517 MGI:1915776 RGD:1309162 HGNC:22951 "ENST00000392552.7|NM_152529.7" +HGNC:55827 GPR155-DT GPR155 divergent transcript non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Divergent transcripts 1990 2021-08-02 2021-08-02 105373748 ENSG00000226853 XR_923592 +HGNC:20844 GPR156 G protein-coupled receptor 156 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "PGR28|GABABL" G protein-coupled receptors, Class C orphans 285 2003-11-26 2014-11-19 165829 ENSG00000175697 OTTHUMG00000159406 uc011bjg.3 AF488739 NM_153002 "CCDS2997|CCDS54629" Q8NFN8 12591167 MGI:2653880 RGD:708438 610464 objectId:209 HGNC:20844 "ENST00000464295.6|NM_153002.3" +HGNC:23687 GPR157 G protein-coupled receptor 157 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 FLJ12132 7TM uncharacterized proteins 310 2003-12-01 2015-08-25 80045 ENSG00000180758 OTTHUMG00000001758 uc001apq.2 AK022194 NM_024980 CCDS100 Q5UAW9 10574461 MGI:2442046 RGD:1311096 objectId:205 HGNC:23687 "ENST00000377411.5|NM_024980.5" +HGNC:23689 GPR158 G protein-coupled receptor 158 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 KIAA1136 G protein-coupled receptors, Class C orphans 285 2003-12-01 2018-11-16 57512 ENSG00000151025 OTTHUMG00000017832 uc001isj.4 AB032962 NM_020752 CCDS31166 Q5T848 25792749 MGI:2441697 RGD:1305841 614573 objectId:210 HGNC:23689 "ENST00000376351.4|NM_020752.3" +HGNC:44163 GPR158-AS1 GPR158 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 GPR158 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100128811 ENSG00000233642 OTTHUMG00000017830 uc010qde.2 AK094758 NR_027333 GPR158-AS1 HGNC:44163 +HGNC:23693 GPR160 G protein-coupled receptor 160 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "GPCR150|GPCR1" G protein-coupled receptors, Class A orphans 262 2003-12-01 2016-10-05 26996 ENSG00000173890 OTTHUMG00000158776 uc003fgi.4 AB083583 NM_014373 CCDS3211 Q9UJ42 12044878 MGI:1919112 RGD:1560200 objectId:140 HGNC:23693 "ENST00000355897.10|NM_014373.3" +HGNC:54682 GPR160P1 GPR160 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-11-27 2019-11-27 100130649 ENSG00000203363 NG_021512 +HGNC:54683 GPR160P2 GPR160 pseudogene 2 pseudogene pseudogene Approved 17q11.2 17q11.2 2019-11-27 2019-11-27 100420482 ENSG00000265863 NG_026241 +HGNC:23694 GPR161 G protein-coupled receptor 161 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 RE2 G protein-coupled receptors, Class A orphans 262 2003-12-01 2016-10-05 23432 ENSG00000143147 OTTHUMG00000034651 uc001gfd.5 AF091890 NM_007369 "CCDS58043|CCDS58044|CCDS58045|CCDS72978|CCDS1268|CCDS58042" Q8N6U8 11959142 MGI:2685054 RGD:1563245 612250 426145 objectId:141 HGNC:23694 "ENST00000682931.1|NM_001375883.1" HGNC:23694 +HGNC:16693 GPR162 G protein-coupled receptor 162 protein-coding gene gene with protein product Approved 12p13 12p13 "A-2|GRCA" G protein-coupled receptors, Class A orphans 262 2005-05-09 2020-03-31 27239 ENSG00000250510 OTTHUMG00000168368 uc001qqw.2 "U47928|U47929|U47924|U47925" NM_019858 "CCDS8563|CCDS44819" Q16538 15777626 MGI:1315214 RGD:1307437 objectId:142 HGNC:16693 "ENST00000311268.8|NM_019858.2" +HGNC:21462 GPR165P G protein-coupled receptor 165, pseudogene pseudogene pseudogene Approved Xq12 Xq12 "PGR15|6530406P05Rik" 2006-02-16 2019-03-26 2019-03-26 392486 NG_005303 15777626 MGI:1923456 HGNC:21462 +HGNC:23626 GPR166P G protein-coupled receptor 166 pseudogene pseudogene pseudogene Approved 6p21.2 06p21.2 PGR9 2006-05-17 2012-05-03 442206 AB083591 NG_025935 HGNC:23626 +HGNC:30057 GPR171 G protein-coupled receptor 171 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 H963 platelet activating receptor homolog G protein-coupled receptors, Class A orphans 262 2004-07-12 2016-05-09 29909 ENSG00000174946 OTTHUMG00000159861 uc003eyq.5 AF002986 NM_013308 CCDS3155 O14626 "9370294|24043826" MGI:2442043 RGD:1585271 618925 objectId:143 HGNC:30057 "ENST00000309180.6|NM_013308.4" +HGNC:18186 GPR173 G protein-coupled receptor 173 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 SREB3 "G-protein coupled receptor 173|G protein coupled receptor 173" G protein-coupled receptors, Class A orphans 262 2004-08-19 2006-02-15 2020-04-02 54328 ENSG00000184194 OTTHUMG00000021596 uc004dru.4 AB040801 NM_018969 CCDS14349 Q9NS66 10833454 MGI:1918021 RGD:620748 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR173 300253 objectId:144 HGNC:18186 "ENST00000332582.5|NM_018969.6" +HGNC:30245 GPR174 G protein-coupled receptor 174 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 FKSG79 G protein-coupled receptors, Class A orphans 262 2004-09-02 2020-04-02 84636 ENSG00000147138 OTTHUMG00000021898 uc004edg.1 AF345567 NM_032553 CCDS14443 Q9BXC1 MGI:2685222 RGD:1564689 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPR174 300903 objectId:145 HGNC:30245 "ENST00000645147.2|NM_032553.3" +HGNC:32370 GPR176 G protein-coupled receptor 176 protein-coding gene gene with protein product Approved 15q14-q15.1 15q14-q15.1 Gm1012 G protein-coupled receptors, Class A orphans 262 2005-10-30 2018-02-13 11245 ENSG00000166073 OTTHUMG00000129873 uc001zkj.3 BC067106 NM_007223 "CCDS10051|CCDS61589|CCDS61588" Q14439 7893747 MGI:2685858 RGD:621718 612183 objectId:637 HGNC:32370 "ENST00000561100.2|NM_007223.3" +HGNC:54389 GPR176-DT GPR176 divergent transcript non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 GPR176-DT Divergent transcripts 1990 2019-05-17 2021-04-28 2021-04-28 100505534 ENSG00000246863 XR_109178 HGNC:54389 +HGNC:31371 GPR179 G protein-coupled receptor 179 protein-coding gene gene with protein product Approved 17q12 17q12 CSNB1E GPR158L1 "GPR158-like 1|GPR179" G protein-coupled receptors, Class C orphans 285 2004-03-22 2006-02-16 2006-02-16 2020-04-20 440435 ENSG00000277399 OTTHUMG00000188545 uc032gkv.1 NM_001004334 CCDS42308 Q6PRD1 MGI:2443409 RGD:1560033 614515 292381 objectId:211 HGNC:31371 "ENST00000616987.5|NM_001004334.4" HGNC:31371 +HGNC:28899 GPR180 G protein-coupled receptor 180 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 ITR intimal thickness related receptor 7TM uncharacterized proteins 310 2006-03-20 2014-11-19 160897 ENSG00000152749 OTTHUMG00000017207 uc001vly.4 AF339823 NM_180989 CCDS9472 Q86V85 12538434 MGI:1930949 RGD:1359193 607787 HGNC:28899 "ENST00000376958.5|NM_180989.6" +HGNC:13708 GPR182 G protein-coupled receptor 182 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "hrhAMR|G10D|AM-R" ADMR adrenomedullin receptor G protein-coupled receptors, Class A orphans 262 2001-07-09 2007-09-24 2007-09-24 2019-08-20 11318 ENSG00000166856 OTTHUMG00000171005 uc001smk.4 Y13583 NM_007264 CCDS8927 O15218 "9367907|9535752" MGI:109545 RGD:61903 605307 objectId:146 HGNC:13708 "ENST00000300098.3|NM_007264.4" +HGNC:3128 GPR183 G protein-coupled receptor 183 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 EBV-induced G-protein coupled receptor 2 EBI2 Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor) G protein-coupled receptors, Class A orphans 262 1994-05-19 2008-07-21 2008-07-21 2014-11-19 1880 ENSG00000169508 OTTHUMG00000017263 uc001vog.4 L08177 NM_004951 CCDS9492 P32249 8383238 MGI:2442034 RGD:1598095 605741 objectId:81 HGNC:3128 "ENST00000376414.5|NM_004951.5" +HGNC:55170 GPR199P G protein-coupled receptor 199, pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 2020-07-24 2020-07-24 653160 ENSG00000241014 NR_037869 31064998 +HGNC:53957 GPRACR GPR107 adjacent cis regulating lncRNA non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 LncGPR107 Long non-coding RNAs with non-systematic symbols 1992 2018-07-20 2018-07-20 401554 ENSG00000196979 OTTHUMG00000187231 NR_135124 29925408 HGNC:53957 +HGNC:24834 GPRASP1 G protein-coupled receptor associated sorting protein 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "GASP|GASP1" Armadillo repeat containing 409 2004-08-25 2020-04-02 9737 ENSG00000198932 OTTHUMG00000022061 uc004ejj.5 AB007903 NM_014710 CCDS35352 Q5JY77 "9455477|15086532|16221301" MGI:1917418 RGD:621343 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPRASP1 300417 470402 HGNC:24834 "ENST00000537097.2|NM_001184727.2" +HGNC:25169 GPRASP2 G protein-coupled receptor associated sorting protein 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "GASP2|FLJ37327" Armadillo repeat containing 409 2004-08-25 2021-05-26 114928 ENSG00000158301 OTTHUMG00000185178 uc004ejm.3 AK094646 NM_138437 CCDS14501 Q96D09 "15086532|16221301" MGI:2442071 RGD:1561019 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GPRASP2 300969 HGNC:25169 "ENST00000483720.7|NM_001004051.4" HGNC:25169 +HGNC:9836 GPRC5A G protein-coupled receptor class C group 5 member A protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "RAIG1|TIG1|PEIG-1" RAI3 "retinoic acid induced 3|G protein-coupled receptor, class C, group 5, member A" G protein-coupled receptors, Class C orphans 285 1999-01-12 2005-05-03 2016-02-24 2016-02-24 9052 ENSG00000013588 OTTHUMG00000168710 uc001rba.4 AF095448 NM_003979 CCDS8657 Q8NFJ5 "8832110|9857033" MGI:1891250 RGD:1310804 604138 objectId:258 HGNC:9836 "ENST00000014914.6|NM_003979.4" +HGNC:13308 GPRC5B G protein-coupled receptor class C group 5 member B protein-coding gene gene with protein product Approved 16p12.3 16p12.3 RAIG-2 "G protein-coupled receptor, family C, group 1, member B|G protein-coupled receptor, family C, group 5, member B|G protein-coupled receptor, class C, group 5, member B" G protein-coupled receptors, Class C orphans 285 2000-01-11 2016-02-24 2016-10-06 51704 ENSG00000167191 OTTHUMG00000131460 uc002dgt.4 AF202640 NM_001304771 CCDS10581 Q9NZH0 "10493829|10783259" MGI:1927596 RGD:1309510 605948 objectId:259 HGNC:13308 "ENST00000300571.7|NM_016235.3" +HGNC:13309 GPRC5C G protein-coupled receptor class C group 5 member C protein-coding gene gene with protein product Approved 17q25.1 17q25.1 RAIG-3 "G protein-coupled receptor, family C, group 5, member C|G protein-coupled receptor, class C, group 5, member C" G protein-coupled receptors, Class C orphans 285 2000-09-19 2016-02-24 2016-10-06 55890 ENSG00000170412 OTTHUMG00000067613 uc002jkp.4 AF207989 NM_001366261 "CCDS11699|CCDS42378" Q9NQ84 10945465 MGI:1917605 RGD:1311408 605949 objectId:260 HGNC:13309 "ENST00000392627.7|NM_022036.4" +HGNC:13310 GPRC5D G protein-coupled receptor class C group 5 member D protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "G protein-coupled receptor, family C, group 5, member D|G protein-coupled receptor, class C, group 5, member D" G protein-coupled receptors, Class C orphans 285 2000-09-19 2016-02-24 2016-10-05 55507 ENSG00000111291 OTTHUMG00000168711 uc010shp.2 AF209923 NM_018654 CCDS8658 Q9NZD1 MGI:1935037 RGD:1563887 607437 objectId:261 HGNC:13310 +HGNC:53599 GPRC5D-AS1 GPRC5D and HEBP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.1 12p13.1 RP11-392P7.6 Antisense RNAs 1987 2017-06-16 2017-06-23 100506314 ENSG00000247498 OTTHUMG00000168719 NR_038920 28612367 HGNC:53599 +HGNC:18510 GPRC6A G protein-coupled receptor class C group 6 member A protein-coding gene gene with protein product Approved 6q22.1 06q22.1 bA86F4.3 "G protein-coupled receptor, family C, group 6, member A|G protein-coupled receptor, class C, group 6, member A" Calcium sensing receptors 279 2002-04-26 2016-02-24 2016-10-05 222545 ENSG00000173612 OTTHUMG00000015447 uc003pxj.3 AF502962 NM_001286354 "CCDS69184|CCDS5112|CCDS69185" Q5T6X5 MGI:2429498 RGD:735077 613572 objectId:55 HGNC:18510 "ENST00000310357.8|NM_148963.4" +HGNC:24835 GPRIN1 G protein regulated inducer of neurite outgrowth 1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "GRIN1|KIAA1893" 2006-08-24 2014-11-19 114787 ENSG00000169258 OTTHUMG00000130659 uc003meo.2 AB067480 NM_052899 CCDS4405 Q7Z2K8 11572484 MGI:1349455 RGD:1308762 611239 HGNC:24835 "ENST00000303991.5|NM_052899.3" +HGNC:23730 GPRIN2 G protein regulated inducer of neurite outgrowth 2 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 MGC15171 KIAA0514 KIAA0514 2003-12-04 2006-08-24 2006-08-24 2014-11-19 9721 ENSG00000204175 OTTHUMG00000018107 uc057taj.1 BC011672 NM_014696 CCDS73101 O60269 9628581 MGI:2444560 RGD:1308922 611240 HGNC:23730 "ENST00000374314.6|NM_001385282.1" +HGNC:27733 GPRIN3 GPRIN family member 3 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "GRIN3|FLJ42625" 2006-08-24 2016-10-25 285513 ENSG00000185477 OTTHUMG00000161044 uc003hsm.2 AK124616 NM_198281 CCDS34030 Q6ZVF9 15488195 MGI:1924785 RGD:1565690 611241 HGNC:27733 "ENST00000609438.2|NM_198281.3" +HGNC:4549 GPS1 G protein pathway suppressor 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "COPS1|CSN1" COP9 signalosome subunit 1 COP9 signalosome 932 1997-10-10 2019-08-20 2873 ENSG00000169727 OTTHUMG00000178484 uc002kdl.2 NM_212492 "CCDS82228|CCDS32774|CCDS11800|CCDS82225|CCDS82226|CCDS82227" Q13098 9535219 MGI:2384801 RGD:621532 601934 HGNC:4549 "ENST00000578552.6|NM_001321092.3" +HGNC:4550 GPS2 G protein pathway suppressor 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 NCoR/SMRT transcriptional repression complex subunits 1875 1997-10-10 2014-11-19 2874 ENSG00000132522 OTTHUMG00000102198 uc002gfx.2 U28963 NM_004489 CCDS11100 Q13227 8943324 MGI:1891751 RGD:1562746 601935 HGNC:4550 "ENST00000380728.7|NM_004489.5" +HGNC:49622 GPS2P1 G protein pathway suppressor 2 pseudogene 1 pseudogene pseudogene Approved 9p24.2 09p24.2 2014-01-24 2014-01-24 392281 ENSG00000236496 OTTHUMG00000019451 NG_021604 PGOHUM00000235944 HGNC:49622 +HGNC:49623 GPS2P2 G protein pathway suppressor 2 pseudogene 2 pseudogene pseudogene Approved 3q27.3 03q27.3 2014-01-24 2014-01-24 100132058 ENSG00000230951 OTTHUMG00000156576 NG_022285 PGOHUM00000238295 HGNC:49623 +HGNC:17858 GPSM1 G protein signaling modulator 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "AGS3|DKFZP727I051" AGS3 homolog (C. elegans) "G-protein signalling modulator 1 (AGS3-like, C. elegans)|G-protein signaling modulator 1" Tetratricopeptide repeat domain containing 769 2004-02-03 2017-04-13 2017-04-13 26086 ENSG00000160360 OTTHUMG00000020930 uc004chd.2 AI272212 NM_015597 "CCDS48055|CCDS6996|CCDS48056" Q86YR5 "11278352|10969064" MGI:1915089 RGD:628682 609491 HGNC:17858 "ENST00000440944.6|NM_001145638.3" +HGNC:29501 GPSM2 G protein signaling modulator 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "LGN|Pins" DFNB82 "G-protein signalling modulator 2 (AGS3-like, C. elegans)|deafness, autosomal recessive 82|G-protein signaling modulator 2" Tetratricopeptide repeat domain containing 769 2004-02-03 2017-04-13 2021-04-13 29899 ENSG00000121957 OTTHUMG00000011730 uc010ovc.3 AY136740 NM_013296 CCDS792 P81274 "11832491|8973305|19888295|20602914|21348867" MGI:1923373 RGD:1560967 LRG_1373|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1373.xml 609245 240651 HGNC:29501 "ENST00000264126.9|NM_013296.5" HGNC:29501 +HGNC:13945 GPSM3 G protein signaling modulator 3 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "NG1|G18|G18.1a|G18.1b|G18.2|AGS4" activator of G-protein signaling 4 C6orf9 "chromosome 6 open reading frame 9|G-protein signalling modulator 3 (AGS3-like, C. elegans)|G-protein signaling modulator 3" 2001-04-06 2004-02-04 2017-04-13 2017-04-13 63940 ENSG00000213654 OTTHUMG00000031244 uc011iwf.2 AF155657 NM_022107 CCDS34419 Q9Y4H4 "2259622|15096500" MGI:2146785 RGD:1303014 618558 HGNC:13945 "ENST00000375040.8|NM_001276501.2" +HGNC:4552 GPT glutamic--pyruvic transaminase protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "ALT1|GPT1" "alanine aminotransferase|alanine transaminase" glutamic-pyruvate transaminase (alanine aminotransferase) 2001-06-22 2016-06-10 2018-05-21 2875 ENSG00000167701 OTTHUMG00000165176 uc033cct.2 NM_001382664 CCDS6430 P24298 MGI:95802 RGD:621720 138200 2.6.1.2 HGNC:4552 "ENST00000394955.3|NM_005309.3" +HGNC:18062 GPT2 glutamic--pyruvic transaminase 2 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 ALT2 alanine aminotransferase 2 glutamic pyruvate transaminase 2 2002-03-05 2016-06-10 2021-05-26 84706 ENSG00000166123 OTTHUMG00000132541 uc002eel.4 NM_001142466 "CCDS45478|CCDS10725" Q8TD30 MGI:1915391 RGD:1305462 138210 470404 2.6.1.2 HGNC:18062 "ENST00000340124.9|NM_133443.4" HGNC:18062 +HGNC:4553 GPX1 glutathione peroxidase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 selenoprotein GPX1 Selenoproteins 890 2001-06-22 2020-08-14 2876 ENSG00000233276 OTTHUMG00000156837 uc021wxw.2 NM_000581 "CCDS54582|CCDS87078|CCDS87079|CCDS87077|CCDS43091" P07203 9605859 MGI:104887 RGD:2729 138320 470406 1.11.1.9 HGNC:4553 "ENST00000419783.3|NM_000581.4" +HGNC:4560 GPX1P1 glutathione peroxidase pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 "GPXL2|GPXP1" 1988-07-25 2010-01-14 2020-04-20 441481 ENSG00000197582 OTTHUMG00000021150 NG_012792 PGOHUM00000241193 HGNC:4560 +HGNC:4561 GPX1P2 glutathione peroxidase pseudogene 2 pseudogene pseudogene Approved 21q21.3 21q21.3 "GPXL2|GPXP2P" "GPXL1|GPXP2" 1988-07-25 2010-01-14 2014-11-19 2884 ENSG00000215326 OTTHUMG00000078697 NG_001134 1487153 PGOHUM00000239055 HGNC:4561 +HGNC:4554 GPX2 glutathione peroxidase 2 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 GSHPX-GI selenoprotein GPX2 glutathione peroxidase 2 (gastrointestinal) Selenoproteins 890 1993-05-03 2015-02-23 2020-08-14 2877 ENSG00000176153 OTTHUMG00000171677 uc021ruq.3 NM_002083 CCDS41964 P18283 "8428933|8287691" MGI:106609 RGD:727780 138319 1.11.1.9 HGNC:4554 "ENST00000389614.6|NM_002083.4" +HGNC:4555 GPX3 glutathione peroxidase 3 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 selenoprotein GPX3 glutathione peroxidase 3 (plasma) Selenoproteins 890 1993-05-03 2015-02-23 2020-08-14 2878 ENSG00000211445 OTTHUMG00000163693 uc021yga.2 NM_001329790 CCDS43389 P22352 "3619451|8287691" MGI:105102 RGD:69224 138321 1.11.1.9 HGNC:4555 "ENST00000388825.9|NM_002084.5" +HGNC:4556 GPX4 glutathione peroxidase 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PHGPx|MCSP" "phospholipid hydroperoxidase|selenoprotein GPX4" glutathione peroxidase 4 (phospholipid hydroperoxidase) Selenoproteins 890 1993-05-03 2012-03-01 2021-05-26 2879 ENSG00000167468 OTTHUMG00000181874 uc021umg.3 "BC039849|X71973" NM_002085 CCDS42457 P36969 "8287691|8039723|10464096" MGI:104767 RGD:69226 138322 406611 HGNC:4556 "ENST00000354171.13|NM_002085.5" HGNC:4556 +HGNC:4557 GPX5 glutathione peroxidase 5 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 epididymal androgen-related protein 1994-11-23 2014-09-29 2015-09-11 2880 ENSG00000224586 OTTHUMG00000016307 uc003nll.3 AJ005277 NM_001509 "CCDS4652|CCDS4653" O75715 9639555 MGI:104886 RGD:69227 603435 1.11.1.9 HGNC:4557 "ENST00000412168.7|NM_001509.3" +HGNC:4558 GPX6 glutathione peroxidase 6 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 selenoprotein GPX6 GPXP3 "glutathione peroxidase pseudogene 3|glutathione peroxidase 6 (olfactory)" Selenoproteins 890 1994-11-23 2015-02-23 2020-08-14 257202 ENSG00000198704 OTTHUMG00000044828 uc021yrx.1 NM_182701 CCDS43432 P59796 MGI:1922762 RGD:628789 607913 1.11.1.9 HGNC:4558 "ENST00000361902.5|NM_182701.1" +HGNC:4559 GPX7 glutathione peroxidase 7 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "FLJ14777|GPX6|NPGPx" 1995-09-01 2016-10-05 2882 ENSG00000116157 OTTHUMG00000008322 uc001cue.4 AF091092 NM_015696 CCDS569 Q96SL4 15294905 MGI:1914555 RGD:1306999 615784 HGNC:4559 "ENST00000361314.5|NM_015696.5" +HGNC:33100 GPX8 glutathione peroxidase 8 (putative) protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "UNQ847|EPLA847" 2008-09-29 2016-10-25 493869 ENSG00000164294 OTTHUMG00000162601 uc003jpq.3 BC029424 NM_001008397 "CCDS78009|CCDS34156|CCDS82997" Q8TED1 24566470 MGI:1916840 RGD:1307506 617172 1.11.1.9 HGNC:33100 "ENST00000503787.6|NM_001008397.4" +HGNC:29305 GRAMD1A GRAM domain containing 1A protein-coding gene gene with protein product Approved 19q13.11 19q13.11 FLJ90346 KIAA1533 KIAA1533 GRAM domain containing 1146 2004-02-10 2005-11-02 2005-11-02 2016-10-06 57655 ENSG00000089351 OTTHUMG00000182464 uc010xse.2 AK074864 NM_020895 "CCDS46046|CCDS42546" Q96CP6 10819331 MGI:105490 RGD:1311022 HGNC:29305 "ENST00000317991.10|NM_020895.5" +HGNC:55275 GRAMD1A-AS1 GRAMD1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Antisense RNAs 1987 2020-10-05 2020-10-05 118827804 ENSG00000269303 +HGNC:29214 GRAMD1B GRAM domain containing 1B protein-coding gene gene with protein product Approved 11q24.1 11q24.1 KIAA1201 LINC01059 long intergenic non-protein coding RNA 1059 GRAM domain containing 1146 2005-11-02 2021-03-16 57476 ENSG00000023171 OTTHUMG00000166004 uc001pyx.4 AB033027 NM_001286563 "CCDS66253|CCDS53720|CCDS66254|CCDS81640" Q3KR37 "10574462|33604931" MGI:1925037 RGD:1305443 HGNC:29214 "ENST00000635736.2|NM_001387025.1" +HGNC:25252 GRAMD1C GRAM domain containing 1C protein-coding gene gene with protein product Approved 3q13.31 03q13.31 DKFZp434C0328 GRAM domain containing 1146 2005-11-02 2015-09-11 54762 ENSG00000178075 OTTHUMG00000159340 uc003eaq.5 NM_017577 "CCDS33826|CCDS54625" Q8IYS0 12975309 MGI:2443024 RGD:1305433 HGNC:25252 "ENST00000358160.9|NM_017577.5" +HGNC:27287 GRAMD2A GRAM domain containing 2A protein-coding gene gene with protein product Approved 15q23 15q23 GRAMD2 GRAM domain containing 2 GRAM domain containing 1146 2005-11-02 2017-04-26 2017-04-26 2019-02-21 196996 ENSG00000175318 OTTHUMG00000172708 uc002atq.4 AK002016 NM_001012642 CCDS32283 Q8IUY3 29469807 MGI:3528937 RGD:1564007 HGNC:27287 "ENST00000309731.12|NM_001012642.3" +HGNC:24911 GRAMD2B GRAM domain containing 2B protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "NS3TP2|FLJ21313" HCV NS3 transactivated protein 2 GRAMD3 GRAM domain containing 3 GRAM domain containing 1146 2005-11-03 2017-04-26 2017-04-26 2019-02-21 65983 ENSG00000155324 OTTHUMG00000128943 uc003ktu.4 BC008590 NM_023927 "CCDS54892|CCDS54893|CCDS4136|CCDS54894|CCDS54891" Q96HH9 29469807 MGI:1914815 RGD:1311016 HGNC:24911 "ENST00000285689.8|NM_023927.4" +HGNC:29113 GRAMD4 GRAM domain containing 4 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "KIAA0767|DIP" death-inducing-protein GRAM domain containing 1146 2008-03-03 2017-04-26 23151 ENSG00000075240 OTTHUMG00000150402 uc062fgc.1 NM_015124 CCDS33672 Q6IC98 "15565177|21127500" MGI:2676308 RGD:1309983 613691 HGNC:29113 "ENST00000406902.6|NM_015124.5" +HGNC:39653 GRAMD4P1 GRAM domain containing 4 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 2011-03-18 2014-11-19 100631252 ENSG00000227874 OTTHUMG00000155592 NG_029309 PGOHUM00000259655 HGNC:39653 +HGNC:39654 GRAMD4P2 GRAM domain containing 4 pseudogene 2 pseudogene pseudogene Approved 22q11.1 22q11.1 2011-03-18 2014-11-19 100873881 ENSG00000235992 OTTHUMG00000155641 NG_032336 PGOHUM00000246364 HGNC:39654 +HGNC:49138 GRAMD4P3 GRAM domain containing 4 pseudogene 3 pseudogene pseudogene Approved 14q11.2 14q11.2 2013-09-19 2015-07-30 100631248 ENSG00000278301 OTTHUMG00000188244 NG_029292 PGOHUM00000292553 HGNC:49138 +HGNC:49139 GRAMD4P4 GRAM domain containing 4 pseudogene 4 pseudogene pseudogene Approved 14q11.2 14q11.2 2013-09-19 2015-02-04 106480248 ENSG00000274369 OTTHUMG00000188535 NG_043865 PGOHUM00000292265 HGNC:49139 +HGNC:49140 GRAMD4P5 GRAM domain containing 4 pseudogene 5 pseudogene pseudogene Approved 15q11.2 15q11.2 2013-09-19 2013-09-19 100631249 ENSG00000259089 OTTHUMG00000171805 NG_029296 PGOHUM00000258907 HGNC:49140 +HGNC:49141 GRAMD4P6 GRAM domain containing 4 pseudogene 6 pseudogene pseudogene Approved 15q11.2 15q11.2 2013-09-19 2013-09-19 100631250 ENSG00000258848 OTTHUMG00000171733 NG_029297 PGOHUM00000258909 HGNC:49141 +HGNC:49142 GRAMD4P7 GRAM domain containing 4 pseudogene 7 pseudogene pseudogene Approved 18p11.21 18p11.21 2013-09-19 2013-09-19 100631251 ENSG00000266242 OTTHUMG00000178701 NG_029305 PGOHUM00000259275 HGNC:49142 +HGNC:49143 GRAMD4P8 GRAM domain containing 4 pseudogene 8 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-09-19 2013-09-19 100631247 ENSG00000270930 OTTHUMG00000184418 NG_029310 PGOHUM00000259763 HGNC:49143 +HGNC:4562 GRAP GRB2 related adaptor protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 SH2 domain containing 741 1998-09-29 2018-03-06 2018-03-06 10750 ENSG00000154016 OTTHUMG00000059436 uc002guy.4 U52518 NM_006613 "CCDS82085|CCDS11202" Q13588 "8647802|8995379" MGI:1918770 RGD:1306884 604330 HGNC:4562 "ENST00000284154.10|NM_006613.4" HGNC:4562 +HGNC:4563 GRAP2 GRB2 related adaptor protein 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "Grf40|GrbX|GRBLG|GADS|Mona" SH2 domain containing 741 1999-05-17 2018-03-06 2018-03-06 9402 ENSG00000100351 OTTHUMG00000151097 uc003ayh.3 AF102694 NM_004810 CCDS13999 O75791 "9878555|10224278" MGI:1333842 RGD:1307605 604518 HGNC:4563 "ENST00000344138.9|NM_004810.4" +HGNC:37240 GRAPL GRB2 related adaptor protein like protein-coding gene gene with protein product Approved 17p11.2 17p11.2 SH2 domain containing 741 2009-10-02 2016-06-10 2016-06-10 400581 ENSG00000189152 OTTHUMG00000059435 uc010cqk.2 BC026233 NM_001129778 CCDS45627 Q8TC17 MGI:1918770 HGNC:37240 "ENST00000344415.9|NM_001129778.3" +HGNC:26214 GRAPL-AS1 GRAPL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Antisense RNAs 1987 2020-09-15 2020-09-15 79999 NR_160285 +HGNC:55226 GRAPLDR GRAPL long non-coding downstream RNA non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Long non-coding RNAs with non-systematic symbols 1992 2020-09-16 2020-11-11 118597830 ENSG00000262292 +HGNC:30963 GRASLND glycosaminoglycan regulatory associated long non-coding RNA non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 RNF144A-AS1 "RNF144A antisense RNA 1 (non-protein coding)|RNF144A antisense RNA 1" Long non-coding RNAs with non-systematic symbols 1992 2012-06-30 2020-04-01 2020-04-01 2020-04-01 386597 ENSG00000228203 OTTHUMG00000151701 uc002qyq.3 NR_033997 "31280115|32202492" RNF144A-AS1 HGNC:30963 +HGNC:4566 GRB2 growth factor receptor bound protein 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 NCKAP2 growth factor receptor-bound protein 2 SH2 domain containing 741 1994-03-04 2015-11-12 2016-10-05 2885 ENSG00000177885 OTTHUMG00000134332 uc002jnx.5 NM_002086 "CCDS11721|CCDS11722" P62993 10051406 MGI:95805 RGD:619758 108355 HGNC:4566 "ENST00000316804.10|NM_002086.5" +HGNC:4567 GRB7 growth factor receptor bound protein 7 protein-coding gene gene with protein product Approved 17q12 17q12 growth factor receptor-bound protein 7 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-05-30 2015-11-12 2015-11-12 2886 ENSG00000141738 OTTHUMG00000133253 uc002hsr.4 D43772 NM_005310 "CCDS82116|CCDS56028|CCDS11345" Q14451 MGI:102683 RGD:619759 601522 HGNC:4567 "ENST00000309156.9|NM_005310.5" +HGNC:4564 GRB10 growth factor receptor bound protein 10 protein-coding gene gene with protein product Approved 7p12.1 07p12.1 growth factor receptor-bound protein 10 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-05-30 2015-11-12 2021-04-13 2887 ENSG00000106070 OTTHUMG00000150622 uc003tpl.3 NM_005311 "CCDS47586|CCDS43583|CCDS87504|CCDS43582" Q13322 MGI:103232 RGD:1566234 LRG_1032|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1032.xml 601523 HGNC:4564 "ENST00000401949.6|NM_001350814.2" +HGNC:4565 GRB14 growth factor receptor bound protein 14 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 growth factor receptor-bound protein 14 "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-05-30 2015-11-12 2016-10-05 2888 ENSG00000115290 OTTHUMG00000132135 uc002ucl.4 NM_004490 CCDS2222 Q14449 8812444 MGI:1355324 RGD:61869 601524 HGNC:4565 "ENST00000263915.8|NM_004490.3" +HGNC:24885 GREB1 growth regulating estrogen receptor binding 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 KIAA0575 gene regulated by estrogen in breast cancer growth regulation by estrogen in breast cancer 1 2009-09-04 2018-03-16 2018-03-16 9687 ENSG00000196208 OTTHUMG00000141276 uc002rbk.2 NM_014668 "CCDS42655|CCDS33146|CCDS33147" Q4ZG55 11103799 MGI:2149712 RGD:1564091 611736 HGNC:24885 "ENST00000381486.7|NM_014668.4" +HGNC:31042 GREB1L GREB1 like retinoic acid receptor coactivator protein-coding gene gene with protein product Approved 18q11.1-q11.2 18q11.1-q11.2 "FLJ13687|C18orf6" KIAA1772 "KIAA1772|growth regulation by estrogen in breast cancer 1 like" 2004-01-22 2009-09-08 2018-03-16 2021-05-26 80000 ENSG00000141449 OTTHUMG00000178892 uc010xam.2 AK023749 NM_024935 CCDS45836 Q9C091 "11214970|28739660" MGI:3576497 RGD:1562371 617782 470408 HGNC:31042 "ENST00000424526.7|NM_001142966.3" HGNC:31042 +HGNC:55323 GREB1L-DT GREB1L divergent transcript non-coding RNA RNA, long non-coding Approved 18q11.1 18q11.1 Divergent transcripts 1990 2020-10-21 2020-10-21 101927496 ENSG00000265984 XR_243856 +HGNC:2001 GREM1 gremlin 1, DAN family BMP antagonist protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "DRM|gremlin|DAND2|HMPS" "hereditary mixed polyposis syndrome|down-regulated in mos-transformed cells" "CKTSF1B1|CRAC1" "cysteine knot superfamily 1, BMP antagonist 1|gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)|gremlin 1|colorectal adenoma and carcinoma 1" DAN family 1246 1999-12-02 2004-05-07 2013-02-26 2021-05-26 26585 ENSG00000166923 OTTHUMG00000129319 uc001zhe.3 NM_013372 "CCDS53927|CCDS10029" O60565 "9660951|10026205|22561515|27385727" MGI:1344337 RGD:2359 LRG_1365|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1365.xml 603054 303758 ligandId:11768 HGNC:2001 "ENST00000651154.1|NM_013372.7" HGNC:2001 +HGNC:55411 GREM1-AS1 GREM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 Antisense RNAs 1987 2021-01-06 2021-01-06 100131315 ENSG00000259721 NR_109767 +HGNC:17655 GREM2 gremlin 2, DAN family BMP antagonist protein-coding gene gene with protein product Approved 1q43 01q43 "Prdc|FLJ21195|CKTSF1B2|DAND3" protein related to DAN and cerberus "gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)|gremlin 2" DAN family 1246 2004-07-30 2013-02-26 2014-11-19 64388 ENSG00000180875 OTTHUMG00000039909 uc001hys.4 AK024848 NM_022469 CCDS31070 Q9H772 15039429 MGI:1344367 RGD:1560008 608832 HGNC:17655 "ENST00000318160.5|NM_022469.4" +HGNC:27549 GREP1 glycine rich extracellular protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 glycine-rich extracellular protein 1 LINC00514 long intergenic non-protein coding RNA 514 2011-11-23 2021-01-22 2021-01-22 2021-10-15 283875 ENSG00000262152 AK098017 NM_001396456 "29757368|33510483" MGI:2443785 LINC00514 HGNC:27549 +HGNC:17923 GRHL1 grainyhead like transcription factor 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "LBP-32|MGR" mammalian grainyhead TFCP2L2 "transcription factor CP2-like 2|grainyhead-like 1 (Drosophila)" 2004-01-05 2005-07-11 2016-01-11 2021-03-18 29841 ENSG00000134317 OTTHUMG00000151704 uc002raa.4 AF198489 NM_014552 CCDS33144 Q9NZI5 "10644752|12393799|12175488" MGI:2182540 RGD:1305735 609786 HGNC:17923 "ENST00000324907.14|NM_198182.3" +HGNC:2799 GRHL2 grainyhead like transcription factor 2 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "FLJ13782|BOM" brother-of-MGR "DFNA28|TFCP2L3" "deafness, autosomal dominant 28|transcription factor CP2-like 3|grainyhead-like 2 (Drosophila)" 1999-06-24 2005-07-11 2016-01-11 2021-05-26 79977 ENSG00000083307 OTTHUMG00000149915 uc010mbu.4 AK023844 NM_024915 "CCDS34931|CCDS83312" Q6ISB3 "12393799|23814079" MGI:2182543 RGD:1561191 608576 159507 HGNC:2799 "ENST00000646743.1|NM_024915.4" HGNC:2799 +HGNC:55466 GRHL2-DT GRHL2 divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 BX357664 Divergent transcripts 1990 2021-03-04 2021-03-04 107986962 "27806310|33090442" +HGNC:25839 GRHL3 grainyhead like transcription factor 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SOM sister-of-mammalian grainyhead TFCP2L4 "transcription factor CP2-like 4|grainyhead-like 3 (Drosophila)" 2004-06-25 2005-07-11 2016-01-11 2021-05-26 57822 ENSG00000158055 OTTHUMG00000003040 uc001bix.3 AY231161 NM_021180 "CCDS53284|CCDS252|CCDS251|CCDS44088" Q8TE85 "12549979|23685552" MGI:2655333 RGD:1308320 608317 390766 HGNC:25839 "ENST00000361548.9|NM_198173.3" HGNC:25839 +HGNC:41119 GRHL3-AS1 GRHL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Antisense RNAs 1987 2019-08-07 2019-08-07 105376871 ENSG00000232298 OTTHUMG00000003039 XR_001737932 HGNC:41119 +HGNC:4570 GRHPR glyoxylate and hydroxypyruvate reductase protein-coding gene gene with protein product Approved 9p13.2 09p13.2 PH2 primary hyperoxaluria type 2 GLXR "glyoxylate reductase/hydroxypyruvate reductase|glyoxylate reductase and hydroxypyruvate reductase" 1999-03-26 2016-07-21 2016-10-05 9380 ENSG00000137106 OTTHUMG00000019914 uc003zzu.2 AF134895 NM_012203 CCDS6609 Q9UBQ7 "10524214|10484776" MGI:1923488 RGD:1308851 604296 122278 "1.1.1.79|1.1.1.81" HGNC:4570 "ENST00000318158.11|NM_012203.2" HGNC:4570 +HGNC:4571 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "GluA1|GLURA" GLUR1 glutamate receptor, ionotropic, AMPA 1 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-13 2016-02-05 2016-10-06 2890 ENSG00000155511 OTTHUMG00000130148 uc003luy.5 NM_000827 "CCDS58987|CCDS4322|CCDS47318|CCDS58989|CCDS58986|CCDS58988" P42261 "1652753|1319477" MGI:95808 RGD:621531 138248 objectId:444 HGNC:4571 "ENST00000285900.10|NM_000827.4" +HGNC:4572 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "GluA2|GLURB" GLUR2 glutamate receptor, ionotropic, AMPA 2 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-26 2016-02-05 2016-02-05 2891 ENSG00000120251 OTTHUMG00000133836 uc003ipl.5 NM_000826 "CCDS43274|CCDS3797|CCDS43275" P42262 1311100 MGI:95809 RGD:61862 138247 objectId:445 HGNC:4572 "ENST00000264426.14|NM_001083619.3" HGNC:4572 +HGNC:4573 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 protein-coding gene gene with protein product Approved Xq25 Xq25 "GluA3|GLURC|MRX94" GLUR3 glutamate receptor, ionotrophic, AMPA 3 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-26 2016-02-05 2020-04-02 2892 ENSG00000125675 OTTHUMG00000022685 uc033etl.2 U10301 NM_000828 "CCDS76017|CCDS14605|CCDS14604" P42263 "1319477|10644433" MGI:95810 RGD:70958 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GRIA3 305915 122282 objectId:446 HGNC:4573 "ENST00000620443.2|NM_007325.5" HGNC:4573 +HGNC:4574 GRIA4 glutamate ionotropic receptor AMPA type subunit 4 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "GluA4|GLURD" GLUR4 glutamate receptor, ionotrophic, AMPA 4 Glutamate ionotropic receptor AMPA type subunits 1200 1992-02-26 2016-02-05 2016-10-06 2893 ENSG00000152578 OTTHUMG00000166236 uc001pix.2 U16129 NM_000829 "CCDS8333|CCDS41707|CCDS41706" P48058 MGI:95811 RGD:61863 138246 objectId:447 HGNC:4574 "ENST00000282499.10|NM_000829.4" HGNC:4574 +HGNC:4575 GRID1 glutamate ionotropic receptor delta type subunit 1 protein-coding gene gene with protein product Approved 10q23.1-q23.2 10q23.1-q23.2 "GluD1|KIAA1220" glutamate receptor, ionotropic, delta 1 "Glutamate ionotropic receptor delta type subunits|MicroRNA protein coding host genes" "1202|1691" 1997-10-21 2016-02-05 2018-11-16 2894 ENSG00000182771 OTTHUMG00000018650 uc001kdl.2 AB033046 NM_017551 CCDS31236 Q9ULK0 MGI:95812 RGD:68366 610659 objectId:448 HGNC:4575 "ENST00000327946.12|NM_017551.3" +HGNC:44131 GRID1-AS1 GRID1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 GRID1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507470 ENSG00000234942 OTTHUMG00000184154 uc001kdk.3 AK097655 NR_038986 GRID1-AS1 HGNC:44131 +HGNC:4576 GRID2 glutamate ionotropic receptor delta type subunit 2 protein-coding gene gene with protein product Approved 4q22.1-q22.2 04q22.1-q22.2 "GluD2|GluR-delta-2" glutamate receptor, ionotropic, delta 2 Glutamate ionotropic receptor delta type subunits 1202 1997-10-21 2016-02-05 2018-02-13 2895 ENSG00000152208 OTTHUMG00000130975 uc011cdt.4 AF009014 NM_001286838 "CCDS3637|CCDS68758" O43424 9465309 MGI:95813 RGD:68368 602368 365089 objectId:449 HGNC:4576 "ENST00000282020.9|NM_001510.4" HGNC:4576 +HGNC:18464 GRID2IP Grid2 interacting protein protein-coding gene gene with protein product Approved 7p22.1 07p22.1 delphilin "glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1|glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein" "PDZ domain containing|Formins" "1220|2006" 2005-01-20 2016-02-05 2020-04-20 392862 ENSG00000215045 OTTHUMG00000155531 uc011jwx.3 NM_001145118 CCDS47537 A4D2P6 14612983 MGI:2176213 RGD:1310492 610639 HGNC:18464 "ENST00000457091.3|NM_001145118.2" +HGNC:4577 GRIFIN galectin-related inter-fiber protein protein-coding gene gene with protein product Approved 7p22.3 07p22.3 1998-12-15 2015-09-07 402635 ENSG00000275572 OTTHUMG00000152042 uc064bae.1 NM_001394787 A4D1Z8 "9786891|18087242" MGI:1925248 RGD:71055 619187 HGNC:4577 "ENST00000614228.2|NM_001394787.1" +HGNC:4579 GRIK1 glutamate ionotropic receptor kainate type subunit 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 GluK1 GLUR5 glutamate receptor, ionotropic, kainate 1 Glutamate ionotropic receptor kainate type subunits 1199 1992-02-26 2016-02-05 2016-10-05 2897 ENSG00000171189 OTTHUMG00000078879 uc002ynn.4 NM_000830 "CCDS82659|CCDS33530|CCDS42913|CCDS82656|CCDS82658" P39086 8468067 MGI:95814 RGD:2732 138245 objectId:450 HGNC:4579 "ENST00000327783.9|NM_001330994.2" +HGNC:16458 GRIK1-AS1 GRIK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 "C21orf9|NCRNA00110|GRIK1AS|GRIK1-AS" "chromosome 21 open reading frame 9|non-protein coding RNA 110|GRIK1 antisense RNA (non-protein coding)|GRIK1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2001-08-24 2010-11-25 2012-08-15 2016-10-05 642976 ENSG00000174680 OTTHUMG00000081875 uc011acu.3 AF107258 NR_027021 GRIK1-AS1 HGNC:16458 +HGNC:1282 GRIK1-AS2 GRIK1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 "C21orf41|NCRNA00258" "chromosome 21 open reading frame 41|non-protein coding RNA 258|GRIK1 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2000-05-23 2011-08-11 2012-08-15 2020-04-20 100379661 AY081145 NR_033368 GRIK1-AS2 HGNC:1282 +HGNC:4580 GRIK2 glutamate ionotropic receptor kainate type subunit 2 protein-coding gene gene with protein product Approved 6q16.3 06q16.3 "GluK2|MRT6" GLUR6 glutamate receptor, ionotropic, kainate 2 Glutamate ionotropic receptor kainate type subunits 1199 1992-02-26 2016-02-05 2016-02-05 2898 ENSG00000164418 OTTHUMG00000016328 uc003pqp.5 NM_001166247 "CCDS55045|CCDS5048|CCDS5049" Q13002 8034316 MGI:95815 RGD:2733 138244 205590 objectId:451 HGNC:4580 "ENST00000369134.9|NM_021956.5" HGNC:4580 +HGNC:4581 GRIK3 glutamate ionotropic receptor kainate type subunit 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "GluK3|GLUR7" glutamate receptor, ionotropic, kainate 3 Glutamate ionotropic receptor kainate type subunits 1199 1993-10-21 2016-02-05 2016-02-05 2899 ENSG00000163873 OTTHUMG00000004189 uc001caz.3 U16127 NM_000831 CCDS416 Q13003 8128318 MGI:95816 RGD:71027 138243 objectId:452 HGNC:4581 "ENST00000373091.8|NM_000831.4" +HGNC:4582 GRIK4 glutamate ionotropic receptor kainate type subunit 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "GluK4|KA1" GRIK glutamate receptor, ionotropic, kainate 4 Glutamate ionotropic receptor kainate type subunits 1199 1993-07-29 2016-02-05 2021-04-13 2900 ENSG00000149403 OTTHUMG00000048255 uc001pxn.4 S67803 NM_014619 CCDS8433 Q16099 MGI:95817 RGD:2734 LRG_1012|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1012.xml 600282 objectId:453 HGNC:4582 "ENST00000527524.8|NM_014619.5" +HGNC:4583 GRIK5 glutamate ionotropic receptor kainate type subunit 5 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "GluK5|KA2" GRIK2 glutamate receptor, ionotropic, kainate 5 Glutamate ionotropic receptor kainate type subunits 1199 1993-10-21 2016-02-05 2016-02-05 2901 ENSG00000105737 OTTHUMG00000044573 uc060zer.1 NM_001301030 "CCDS77305|CCDS12595" Q16478 7527545 MGI:95818 RGD:2735 600283 objectId:454 HGNC:4583 "ENST00000593562.6|NM_002088.5" +HGNC:4584 GRIN1 glutamate ionotropic receptor NMDA type subunit 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 GluN1 NMDAR1 "N-methyl-D-aspartate receptor subunit NR1|glutamate receptor, ionotropic, N-methyl D-aspartate 1" Glutamate ionotropic receptor NMDA type subunits 1201 1992-09-18 2016-02-05 2016-02-05 2902 ENSG00000176884 OTTHUMG00000020976 uc004cln.4 NM_007327 "CCDS55354|CCDS55355|CCDS7031|CCDS43910|CCDS7032" Q05586 1350383 MGI:95819 RGD:2736 138249 282786 objectId:455 HGNC:4584 "ENST00000371561.8|NM_007327.4" HGNC:4584 +HGNC:4585 GRIN2A glutamate ionotropic receptor NMDA type subunit 2A protein-coding gene gene with protein product Approved 16p13.2 16p13.2 GluN2A NMDAR2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A Glutamate ionotropic receptor NMDA type subunits 1201 1992-09-18 2016-02-05 2016-02-05 2903 ENSG00000183454 OTTHUMG00000129721 uc010uym.3 NM_000833 "CCDS10539|CCDS45407" Q12879 9480759 MGI:95820 RGD:2737 GRIN2A 138253 289276 objectId:456 HGNC:4585 "ENST00000330684.4|NM_001134407.3" HGNC:4585 +HGNC:4586 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B protein-coding gene gene with protein product Approved 12p13.1 12p13.1 GluN2B NMDAR2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B Glutamate ionotropic receptor NMDA type subunits 1201 1992-09-18 2016-02-05 2016-02-05 2904 ENSG00000273079 OTTHUMG00000137373 uc001rbt.3 NM_000834 CCDS8662 Q13224 1350383 MGI:95821 RGD:2738 138252 266126 objectId:457 HGNC:4586 "ENST00000609686.4|NM_000834.5" HGNC:4586 +HGNC:4587 GRIN2C glutamate ionotropic receptor NMDA type subunit 2C protein-coding gene gene with protein product Approved 17q25.1 17q25.1 GluN2C NMDAR2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C Glutamate ionotropic receptor NMDA type subunits 1201 1992-09-18 2016-02-05 2016-02-05 2905 ENSG00000161509 OTTHUMG00000044524 uc002jlt.3 NM_000835 "CCDS32724|CCDS62330" Q14957 9480759 MGI:95822 RGD:2739 138254 objectId:458 HGNC:4587 "ENST00000293190.10|NM_000835.6" +HGNC:4588 GRIN2D glutamate ionotropic receptor NMDA type subunit 2D protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "GluN2D|EB11|NR2D" N-methyl-d-aspartate receptor subunit 2D NMDAR2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D Glutamate ionotropic receptor NMDA type subunits 1201 1993-07-29 2016-02-05 2016-02-05 2906 ENSG00000105464 OTTHUMG00000183304 uc002pjc.4 U77783 NM_000836 CCDS12719 O15399 "9480759|9418891" MGI:95823 RGD:2740 602717 469057 objectId:459 HGNC:4588 "ENST00000263269.4|NM_000836.4" HGNC:4588 +HGNC:16767 GRIN3A glutamate ionotropic receptor NMDA type subunit 3A protein-coding gene gene with protein product Approved 9q31.1 09q31.1 GluN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A Glutamate ionotropic receptor NMDA type subunits 1201 2001-10-05 2016-02-05 2016-02-05 116443 ENSG00000198785 OTTHUMG00000020387 uc004bbp.3 NM_133445 CCDS6758 Q8TCU5 MGI:1933206 RGD:621704 606650 objectId:460 HGNC:16767 "ENST00000361820.6|NM_133445.3" +HGNC:16768 GRIN3B glutamate ionotropic receptor NMDA type subunit 3B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 GluN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B Glutamate ionotropic receptor NMDA type subunits 1201 2001-10-05 2016-02-05 2016-02-05 116444 ENSG00000116032 OTTHUMG00000181904 uc002lqo.2 NM_138690 CCDS32861 O60391 MGI:2150393 RGD:621705 606651 470410 objectId:461 HGNC:16768 "ENST00000234389.3|NM_138690.3" +HGNC:4589 GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "HNRGW|TMBIM3|LFG1" "transmembrane BAX inhibitor motif containing 3|lifeguard 1" NMDARA1 glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) Transmembrane BAX inhibitor motif containing 1215 1992-12-15 2016-02-05 2020-03-10 2907 ENSG00000178719 OTTHUMG00000165433 uc003zao.1 NM_001009184 CCDS34961 Q7Z429 "1719427|8406459" MGI:1913418 RGD:628873 138251 HGNC:4589 "ENST00000395068.9|NM_001009184.2" +HGNC:18708 GRIP1 glutamate receptor interacting protein 1 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 PDZ domain containing 1220 2002-05-29 2016-10-05 23426 ENSG00000155974 OTTHUMG00000169019 uc001stk.4 AJ133439 NM_001178074 CCDS41807 Q9Y3R0 10197531 MGI:1921303 RGD:621667 604597 303028 HGNC:18708 "ENST00000359742.9|NM_001366722.1" HGNC:18708 +HGNC:23841 GRIP2 glutamate receptor interacting protein 2 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 KIAA1719 PDZ domain containing 1220 2003-12-15 2016-10-05 80852 ENSG00000144596 OTTHUMG00000155544 uc032rfi.1 AB051506 NM_001080423 CCDS46766 Q9C0E4 MGI:2681173 RGD:621668 HGNC:23841 "ENST00000621039.5|NM_001080423.4" +HGNC:18706 GRIPAP1 GRIP1 associated protein 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "GRASP-1|GRASP1|KIAA1167|MPMGp800B12492Q3|DKFZp434P0630" 2002-05-30 2020-04-02 56850 ENSG00000068400 OTTHUMG00000033192 uc033ecr.2 AB032993 NM_207672 CCDS35248 Q4V328 10896157 MGI:1859616 RGD:621249 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GRIPAP1 300408 HGNC:18706 "ENST00000376423.8|NM_020137.5" +HGNC:10013 GRK1 G protein-coupled receptor kinase 1 protein-coding gene gene with protein product Approved 13q34 13q34 "GPRK1|RK" RHOK rhodopsin kinase AGC family kinases 1625 1994-07-21 2004-03-24 2004-03-23 2014-11-18 6011 ENSG00000185974 OTTHUMG00000185528 uc010tkf.3 NM_002929 CCDS81785 Q15835 "8812493|15057823" MGI:1345146 RGD:619712 Mutations of the Rhodopsin Kinase Gene|http://www.retina-international.org/files/sci-news/rhokmut.htm 180381 122286 objectId:1465 2.7.11.14 HGNC:10013 "ENST00000335678.7|NM_002929.3" HGNC:10013 +HGNC:289 GRK2 G protein-coupled receptor kinase 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 BARK1 ADRBK1 adrenergic, beta, receptor kinase 1 "Pleckstrin homology domain containing|AGC family kinases" "682|1625" 1992-03-25 2016-05-16 2016-05-16 2020-09-17 156 ENSG00000173020 OTTHUMG00000167104 uc009yrn.2 X61157 NM_001619 CCDS8156 P25098 2037065 MGI:87940 RGD:2062 109635 objectId:1466 2.7.11.15 HGNC:289 "ENST00000308595.10|NM_001619.5" +HGNC:290 GRK3 G protein-coupled receptor kinase 3 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 BARK2 ADRBK2 adrenergic, beta, receptor kinase 2 "Pleckstrin homology domain containing|AGC family kinases" "682|1625" 1992-03-25 2016-05-16 2016-05-16 2020-09-17 157 ENSG00000100077 OTTHUMG00000150280 uc003abx.5 X69117 NM_005160 CCDS13832 P35626 7695743 MGI:87941 RGD:2063 109636 objectId:1467 2.7.11.15 HGNC:290 "ENST00000324198.11|NM_005160.4" +HGNC:55679 GRK3-AS1 GRK3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Antisense RNAs 1987 2021-07-01 2021-07-01 100996404 ENSG00000234884 XR_001755459 +HGNC:4543 GRK4 G protein-coupled receptor kinase 4 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 GPRK4 GPRK2L G protein-coupled receptor kinase 2-like (Drosophila) AGC family kinases 1625 1993-10-14 2004-02-06 2004-02-04 2015-09-07 2868 ENSG00000125388 OTTHUMG00000159914 uc003ggn.2 NM_005307 "CCDS33946|CCDS33947|CCDS47002|CCDS68656" P32298 1338872 MGI:95801 RGD:61858 137026 objectId:1468 HGNC:4543 "ENST00000398052.9|NM_182982.3" +HGNC:4544 GRK5 G protein-coupled receptor kinase 5 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 GPRK5 "AGC family kinases|MicroRNA protein coding host genes" "1625|1691" 1994-03-29 2004-02-06 2004-02-04 2015-08-28 2869 ENSG00000198873 OTTHUMG00000019149 uc001led.4 L15388 NM_005308 CCDS7612 P34947 7685906 MGI:109161 RGD:61985 600870 objectId:1469 HGNC:4544 "ENST00000392870.3|NM_005308.3" +HGNC:49478 GRK5-IT1 GRK5 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 10q26.11 10q26.11 GRK5 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2013-12-20 2015-02-25 2015-02-25 101927868 ENSG00000228485 OTTHUMG00000019145 XR_246196 GRK5-IT1 HGNC:49478 +HGNC:4545 GRK6 G protein-coupled receptor kinase 6 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 GPRK6 AGC family kinases 1625 1994-03-29 2004-02-06 2004-02-04 2016-10-05 2870 ENSG00000198055 OTTHUMG00000163401 uc063kea.1 NM_002082 "CCDS43406|CCDS34303" P43250 8415712 MGI:1347078 RGD:61986 600869 objectId:1470 HGNC:4545 "ENST00000355472.10|NM_001004106.3" +HGNC:4547 GRK6P1 G protein-coupled receptor kinase 6 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 "GPRK6L|GPRK6P|GRK6PS" G protein-coupled receptor kinase 6 pseudogene 1997-04-25 2011-01-14 2011-01-14 2011-02-07 2871 ENSG00000215571 OTTHUMG00000016540 U48958 NR_144554 9016947 PGOHUM00000248520 HGNC:4547 +HGNC:17031 GRK7 G protein-coupled receptor kinase 7 protein-coding gene gene with protein product Approved 3q23 03q23 GPRK7 AGC family kinases 1625 2002-05-27 2004-02-04 2004-02-04 2016-10-05 131890 ENSG00000114124 OTTHUMG00000159068 uc011bnd.3 NM_139209 CCDS3120 Q8WTQ7 "11717351|11754336" 606987 objectId:1471 HGNC:17031 "ENST00000682958.1|NM_139209.3" +HGNC:4593 GRM1 glutamate metabotropic receptor 1 protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "GPRC1A|mGlu1|MGLUR1|PPP1R85" protein phosphatase 1, regulatory subunit 85 glutamate receptor, metabotropic 1 "Glutamate metabotropic receptors|Protein phosphatase 1 regulatory subunits" "281|694" 1993-10-21 2016-04-06 2017-07-12 2911 ENSG00000152822 OTTHUMG00000015752 uc032xoi.2 U31215 NM_000838 "CCDS64548|CCDS5209|CCDS47497" Q13255 "9076744|9376535" MGI:1351338 RGD:2742 604473 327283 objectId:289 HGNC:4593 "ENST00000282753.6|NM_001278064.2" HGNC:4593 +HGNC:4594 GRM2 glutamate metabotropic receptor 2 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "GPRC1B|mGlu2|MGLUR2" glutamate receptor, metabotropic 2 Glutamate metabotropic receptors 281 1993-10-21 2016-04-06 2016-04-06 2912 ENSG00000164082 OTTHUMG00000156902 uc010hlv.4 L35318 NM_000839 CCDS2834 Q14416 7620613 MGI:1351339 RGD:2743 604099 objectId:290 HGNC:4594 "ENST00000395052.8|NM_000839.5" +HGNC:4595 GRM3 glutamate metabotropic receptor 3 protein-coding gene gene with protein product Approved 7q21.11-q21.12 07q21.11-q21.12 "GPRC1C|mGlu3|MGLUR3" glutamate receptor, metabotropic 3 Glutamate metabotropic receptors 281 1993-10-21 2016-04-06 2018-02-13 2913 ENSG00000198822 OTTHUMG00000022884 uc003uid.4 NM_000840 "CCDS87515|CCDS5600" Q14832 8824806 MGI:1351340 RGD:2744 601115 objectId:291 HGNC:4595 "ENST00000361669.7|NM_000840.3" +HGNC:40264 GRM3-AS1 GRM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.12 07q21.12 Antisense RNAs 1987 2019-08-07 2019-08-07 112268007 ENSG00000233073 OTTHUMG00000153975 HGNC:40264 +HGNC:4596 GRM4 glutamate metabotropic receptor 4 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "GPRC1D|mGlu4|MGLUR4" glutamate receptor, metabotropic 4 Glutamate metabotropic receptors 281 1993-10-21 2016-04-06 2016-10-05 2914 ENSG00000124493 OTTHUMG00000014538 uc010jvh.6 U92457 NM_000841 "CCDS59010|CCDS59012|CCDS75432|CCDS59011|CCDS4787" Q14833 "8738157|9473604" MGI:1351341 RGD:2745 604100 objectId:292 HGNC:4596 "ENST00000538487.7|NM_000841.4" +HGNC:4597 GRM5 glutamate metabotropic receptor 5 protein-coding gene gene with protein product Approved 11q14.2-q14.3 11q14.2-q14.3 "MGLUR5|GPRC1E|mGlu5|PPP1R86" protein phosphatase 1, regulatory subunit 86 glutamate receptor, metabotropic 5 "Glutamate metabotropic receptors|Protein phosphatase 1 regulatory subunits" "281|694" 1993-10-22 2016-04-06 2018-02-13 2915 ENSG00000168959 OTTHUMG00000134306 uc009yvm.3 D28538 NM_000842 "CCDS8283|CCDS44694" P41594 7908515 MGI:1351342 RGD:2746 604102 objectId:293 HGNC:4597 "ENST00000305447.5|NM_001143831.3" +HGNC:40265 GRM5-AS1 GRM5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 GRM5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100873989 ENSG00000255082 OTTHUMG00000167293 uc031qdb.1 NR_049724 GRM5-AS1 HGNC:40265 +HGNC:55419 GRM5P1 GRM5 pseudogene 1 pseudogene pseudogene Approved 11p11.12 11p11.12 2021-01-07 2021-01-07 440040 ENSG00000205035 NR_027044 29066914 +HGNC:4598 GRM6 glutamate metabotropic receptor 6 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "GPRC1F|mGlu6|MGLUR6|CSNB1B" glutamate receptor, metabotropic 6 Glutamate metabotropic receptors 281 1993-10-22 2016-04-06 2021-04-13 2916 ENSG00000113262 OTTHUMG00000130889 uc003mjr.4 U82083 NM_000843 CCDS4442 O15303 9215706 MGI:1351343 RGD:2747 LRG_1236|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1236.xml 604096 122291 objectId:294 HGNC:4598 "ENST00000517717.3|NM_000843.4" HGNC:4598 +HGNC:4599 GRM7 glutamate metabotropic receptor 7 protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "GLUR7|GPRC1G|mGlu7|MGLUR7|PPP1R87" protein phosphatase 1, regulatory subunit 87 glutamate receptor, metabotropic 7 "Glutamate metabotropic receptors|Protein phosphatase 1 regulatory subunits" "281|694" 1995-10-11 2016-04-06 2016-10-05 2917 ENSG00000196277 OTTHUMG00000125549 uc003bqm.3 U92458 NM_000844 CCDS43042 Q14831 "8288585|8840028" MGI:1351344 RGD:619857 604101 objectId:295 HGNC:4599 "ENST00000357716.9|NM_000844.4" HGNC:4599 +HGNC:40267 GRM7-AS1 GRM7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p26.1 03p26.1 GRM7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873937 ENSG00000236202 OTTHUMG00000154932 uc062ggc.1 NR_046606 GRM7-AS1 HGNC:40267 +HGNC:40266 GRM7-AS2 GRM7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p26.1 03p26.1 GRM7 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 105376946 ENSG00000237665 OTTHUMG00000154931 uc062gfx.1 NR_131906 GRM7-AS2 HGNC:40266 +HGNC:42444 GRM7-AS3 GRM7 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3p26.1 03p26.1 GRM7 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2020-04-20 101927347 ENSG00000226258 OTTHUMG00000154912 uc032rcs.2 NR_110123 GRM7-AS3 HGNC:42444 +HGNC:4600 GRM8 glutamate metabotropic receptor 8 protein-coding gene gene with protein product Approved 7q31.33 07q31.33 "GLUR8|GPRC1H|mGlu8|MGLUR8" glutamate receptor, metabotropic 8 "Glutamate metabotropic receptors|MicroRNA protein coding host genes" "281|1691" 1995-10-11 2016-04-06 2016-10-06 2918 ENSG00000179603 OTTHUMG00000022888 uc003vlr.3 NM_000845 "CCDS5794|CCDS47696" O00222 8824806 MGI:1351345 RGD:619858 601116 470412 objectId:296 HGNC:4600 "ENST00000339582.7|NM_000845.3" +HGNC:40268 GRM8-AS1 GRM8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.33 07q31.33 Antisense RNAs 1987 2019-08-07 2019-08-07 101928333 ENSG00000236340 OTTHUMG00000063970 NR_110194 HGNC:40268 +HGNC:4601 GRN granulin precursor protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "PCDGF|PGRN|CLN11" progranulin 1992-11-30 2016-10-05 2021-04-13 2896 ENSG00000030582 OTTHUMG00000181816 uc002igp.3 M75161 NM_002087 CCDS11483 P28799 "1417868|9826678" MGI:95832 RGD:61983 LRG_661|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_661.xml 138945 168073 HGNC:4601 "ENST00000053867.8|NM_002087.4" HGNC:4601 +HGNC:4605 GRP gastrin releasing peptide protein-coding gene gene with protein product Approved 18q21.32 18q21.32 "bombesin|neuromedin C|prepro-GRP" gastrin-releasing peptide Neuropeptides 1902 1986-01-01 2016-02-01 2016-10-05 2922 ENSG00000134443 OTTHUMG00000132760 uc002lhv.4 NM_002091 "CCDS45877|CCDS45878|CCDS11971" P07492 MGI:95833 RGD:621740 137260 ligandId:612 HGNC:4605 "ENST00000256857.7|NM_002091.5" +HGNC:19696 GRPEL1 GrpE like 1, mitochondrial protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "FLJ25609|GrpE|hMGE" GrpE-like 1, mitochondrial (E. coli) TIM23 complex 1552 2003-05-12 2016-01-22 2016-10-05 80273 ENSG00000109519 OTTHUMG00000090495 uc003gjy.2 AF070525 NM_025196 CCDS3396 Q9HAV7 "11311562|12840016" MGI:1334417 RGD:70947 606173 HGNC:19696 "ENST00000264954.5|NM_025196.4" +HGNC:21060 GRPEL2 GrpE like 2, mitochondrial protein-coding gene gene with protein product Approved 5q32 05q32 "DKFZp451C205|Mt-GrpE#2|FLJ23713" GrpE-like 2, mitochondrial (E. coli) 2003-07-01 2016-01-22 2016-10-05 134266 ENSG00000164284 OTTHUMG00000130048 uc003lqj.4 AL832325 NM_152407 CCDS4295 Q8TAA5 9694873 MGI:1334416 RGD:1585231 618545 HGNC:21060 "ENST00000329271.8|NM_152407.4" +HGNC:48999 GRPEL2-AS1 GRPEL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q32 05q32 RP11-394O4.4 Antisense RNAs 1987 2013-07-30 2015-08-07 2021-03-24 106144529 ENSG00000253618 OTTHUMG00000165071 AI857303 NR_132366 GRPEL2-AS1 HGNC:48999 +HGNC:41969 GRPEL2P1 GRPEL2 pseudogene 1 pseudogene pseudogene Approved 13q31.2 13q31.2 "GrpE-like 2, mitochondrial (E. coli) pseudogene 1|GrpE like 2, mitochondrial pseudogene 1" 2011-05-24 2019-01-21 2019-01-21 100874360 ENSG00000233211 OTTHUMG00000017172 NG_032384 PGOHUM00000248456 HGNC:41969 +HGNC:41970 GRPEL2P2 GRPEL2 pseudogene 2 pseudogene pseudogene Approved Xq11.2 Xq11.2 "GrpE-like 2, mitochondrial (E. coli) pseudogene 2|GrpE like 2, mitochondrial pseudogene 2" 2011-05-24 2019-01-21 2019-01-21 100129994 ENSG00000225814 OTTHUMG00000021710 NG_022604 PGOHUM00000241352 HGNC:41970 +HGNC:41971 GRPEL2P3 GRPEL2 pseudogene 3 pseudogene pseudogene Approved 7q21.3 07q21.3 "GrpE-like 2, mitochondrial (E. coli) pseudogene 3|GrpE like 2, mitochondrial pseudogene 3" 2011-05-24 2019-01-21 2019-01-21 100129871 ENSG00000230682 OTTHUMG00000155561 NG_022570 PGOHUM00000233474 HGNC:41971 +HGNC:4609 GRPR gastrin releasing peptide receptor protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "BB2|BB2R|BRS2" bombesin receptor 2 Bombesin receptors 222 1991-08-06 2015-11-18 2021-04-21 2925 ENSG00000126010 OTTHUMG00000021189 uc004cxj.4 NM_005314 CCDS14174 P30550 MGI:95836 RGD:2750 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GRPR 305670 objectId:39 HGNC:4609 "ENST00000380289.3|NM_005314.3" +HGNC:4610 GRSF1 G-rich RNA sequence binding factor 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 RNA binding motif containing 725 1995-11-29 2016-10-06 2926 ENSG00000132463 OTTHUMG00000160846 uc010iia.2 BC040485 NM_002092 "CCDS47069|CCDS47070" Q12849 8036161 MGI:106479 RGD:1310858 604851 HGNC:4610 "ENST00000254799.11|NM_002092.4" +HGNC:20310 GRTP1 growth hormone regulated TBC protein 1 protein-coding gene gene with protein product Approved 13q34 13q34 "FLJ22474|TBC1D6" 2003-01-24 2014-11-19 79774 ENSG00000139835 OTTHUMG00000017381 uc001vtn.5 AK026127 NM_024719 "CCDS66591|CCDS9534|CCDS73606" Q5TC63 11564724 MGI:1914040 RGD:1309210 HGNC:20310 "ENST00000375431.9|NM_024719.4" +HGNC:39917 GRTP1-AS1 GRTP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 GRTP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874068 ENSG00000225083 OTTHUMG00000017382 uc058ymx.1 NR_046541 GRTP1-AS1 HGNC:39917 +HGNC:21270 GRWD1 glutamate rich WD repeat containing 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "WDR28|GRWD|RRB1" WD repeat domain containing 362 2003-10-15 2016-06-06 2016-06-06 83743 ENSG00000105447 OTTHUMG00000183305 uc002pjd.3 AF337808 NM_031485 CCDS12720 Q9BQ67 15885502 MGI:2141989 RGD:1310649 610597 HGNC:21270 "ENST00000253237.10|NM_031485.4" +HGNC:31673 GRXCR1 glutaredoxin and cysteine rich domain containing 1 protein-coding gene gene with protein product Approved 4p13 04p13 PPP1R88 protein phosphatase 1, regulatory subunit 88 DFNB25 "deafness, autosomal recessive 25|glutaredoxin, cysteine rich 1" "Protein phosphatase 1 regulatory subunits|Glutaredoxin domain containing" "694|1468" 2008-07-04 2016-02-29 2021-05-26 389207 ENSG00000215203 OTTHUMG00000160434 uc003gwt.4 NM_001080476 CCDS43225 A8MXD5 20137778 MGI:3577767 RGD:1564635 613283 225329 HGNC:31673 "ENST00000399770.3|NM_001080476.3" HGNC:31673 +HGNC:33862 GRXCR2 glutaredoxin and cysteine rich domain containing 2 protein-coding gene gene with protein product Approved 5q32 05q32 DFNB101 glutaredoxin, cysteine rich 2 Glutaredoxin domain containing 1468 2008-09-11 2016-02-29 2021-05-26 643226 ENSG00000204928 OTTHUMG00000163417 uc003lns.2 NM_001080516 CCDS34263 A6NFK2 24619944 MGI:2685697 RGD:1584696 615762 402368 HGNC:33862 "ENST00000377976.3|NM_001080516.2" HGNC:33862 +HGNC:30229 G0S2 G0/G1 switch 2 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 putative lymphocyte G0/G1 switch gene G0/G1switch 2 2005-08-11 2014-04-22 2014-11-18 50486 ENSG00000123689 OTTHUMG00000036479 uc001hhi.5 NM_015714 CCDS1488 P27469 "1930693|10645953" MGI:1316737 RGD:1311675 614447 HGNC:30229 "ENST00000367029.5|NM_015714.4" +HGNC:28042 GSAP gamma-secretase activating protein protein-coding gene gene with protein product Approved 7q11.23 07q11.23 LOC54103 PION pigeon homolog (Drosophila) 2008-08-12 2013-04-05 2013-04-05 2013-04-05 54103 ENSG00000186088 OTTHUMG00000150504 uc003ugf.3 NM_017439 CCDS34672 A4D1B5 20811458 MGI:2442259 RGD:1563271 613552 HGNC:28042 "ENST00000257626.12|NM_017439.4" +HGNC:4612 GSC goosecoid homeobox protein-coding gene gene with protein product Approved 14q32.13 14q32.13 PRD class homeoboxes and pseudogenes 521 1993-12-13 2007-07-11 2017-01-18 145258 ENSG00000133937 OTTHUMG00000170864 uc001ydu.4 NM_173849 CCDS9930 P56915 7916327 MGI:95841 RGD:631425 138890 8439 400640 HGNC:4612 "ENST00000238558.5|NM_173849.3" HGNC:4612 +HGNC:53074 GSC-DT GSC divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.13 14q32.13 DIGIT divergent to GSC, induced by TGF-beta family signaling Divergent transcripts 1990 2018-06-27 2018-06-27 108868751 NR_144432 27705785 HGNC:53074 +HGNC:4613 GSC2 goosecoid homeobox 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 GSCL goosecoid-like PRD class homeoboxes and pseudogenes 521 1997-06-18 2007-08-28 2007-08-28 2015-08-25 2928 ENSG00000063515 OTTHUMG00000150122 uc011ags.3 NM_005315 CCDS13757 O15499 9150167 MGI:892006 RGD:1305333 601845 8554 HGNC:4613 "ENST00000086933.3|NM_005315.2" +HGNC:13311 GSDMA gasdermin A protein-coding gene gene with protein product Approved 17q21.1 17q21.1 FLJ39120 "GSDM|GSDM1" "gasdermin|gasdermin 1" Gasdermins 1529 2003-12-01 2008-07-31 2008-07-31 2016-10-06 284110 ENSG00000167914 OTTHUMG00000179522 uc002htl.1 AB093591 NM_178171 CCDS45669 Q96QA5 "12883658|15010812|17350798" "MGI:1889509|MGI:1921490|MGI:3044668" RGD:1592062 611218 HGNC:13311 "ENST00000301659.9|NM_178171.5" +HGNC:23690 GSDMB gasdermin B protein-coding gene gene with protein product Approved 17q21.1 17q21.1 PRO2521 GSDML gasdermin-like Gasdermins 1529 2003-12-09 2008-07-31 2008-07-31 2016-10-05 55876 ENSG00000073605 OTTHUMG00000133248 uc002htg.3 AF119884 NM_018530 "CCDS54120|CCDS11354|CCDS42313|CCDS54119" Q8TAX9 "12883658|15010812|17350798" 611221 HGNC:23690 "ENST00000418519.6|NM_001165958.2" +HGNC:7151 GSDMC gasdermin C protein-coding gene gene with protein product Approved 8q24.21 08q24.21 MLZE melanoma-derived leucine zipper, extra-nuclear factor Gasdermins 1529 2000-06-16 2008-07-31 2008-07-31 2014-05-14 56169 ENSG00000147697 OTTHUMG00000164851 uc003ysr.3 AB042405 NM_031415 CCDS6360 Q9BYG8 17350798 "MGI:1933176|MGI:2146102|MGI:3580656|MGI:1921798" RGD:1308989 608384 HGNC:7151 "ENST00000276708.9|NM_031415.3" +HGNC:25697 GSDMD gasdermin D protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FLJ12150|DF5L" GSDMDC1 gasdermin domain containing 1 Gasdermins 1529 2004-05-21 2008-07-31 2008-07-31 2016-10-25 79792 ENSG00000104518 OTTHUMG00000165132 uc010mfe.4 AK096216 NM_024736 CCDS34956 P57764 "15289881|17350798" MGI:1916396 RGD:1307261 617042 HGNC:25697 "ENST00000262580.9|NM_024736.7" +HGNC:2810 GSDME gasdermin E protein-coding gene gene with protein product Approved 7p15.3 07p15.3 ICERE-1 inversely correlated with estrogen receptor expression DFNA5 "deafness, autosomal dominant 5|DFNA5, deafness associated tumor suppressor" Gasdermins 1529 1995-09-11 2017-08-18 2017-08-18 2021-05-26 1687 ENSG00000105928 OTTHUMG00000023237 uc003sxa.2 AF007790 NM_004403 "CCDS47563|CCDS5389" O60443 "8589696|9450185|26236191" MGI:1889850 RGD:727871 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_1428|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1428.xml" 608798 121056 HGNC:2810 "ENST00000645220.1|NM_001127453.2" HGNC:2810 +HGNC:28979 GSE1 Gse1 coiled-coil protein protein-coding gene gene with protein product Approved 16q24.1 16q24.1 genetic suppressor element 1 KIAA0182 "KIAA0182|Gse1 coiled-coil protein homolog (mouse)" 2006-02-22 2012-10-02 2012-12-07 2014-11-18 23199 ENSG00000131149 OTTHUMG00000137650 uc002fix.5 D80004 NM_014615 "CCDS10952|CCDS62007|CCDS45539" Q14687 "8724849|8786132" MGI:1098275 RGD:1562686 616886 470414 HGNC:28979 "ENST00000253458.12|NM_014615.5" +HGNC:48645 GSEC G-quadruplex forming sequence containing lncRNA non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 "DCPS-AS1|FLJ39051" ST3GAL4-AS1 ST3GAL4 antisense RNA 1 (head to head) Long non-coding RNAs with non-systematic symbols 1992 2013-05-31 2017-02-16 2017-02-16 2017-02-16 399972 ENSG00000280832 OTTHUMG00000189590 NR_033839 27797375 HGNC:48645 +HGNC:19716 GSG1 germ cell associated 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 MGC3146 2002-11-15 2016-10-05 83445 ENSG00000111305 OTTHUMG00000150148 uc001rbj.4 BC001796 NM_031289 "CCDS44835|CCDS55807|CCDS55806|CCDS8659|CCDS44836|CCDS55808" Q2KHT4 MGI:1194499 RGD:1306546 HGNC:19716 "ENST00000651961.1|NM_001080555.4" +HGNC:28283 GSG1L GSG1 like protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "MGC18079|PRO19651|KTSR5831" 2006-07-04 2016-06-30 2016-10-05 146395 ENSG00000169181 OTTHUMG00000131676 uc002doy.3 AK128775 NM_144675 "CCDS10631|CCDS45450|CCDS81960" Q6UXU4 "22813734|26932439" MGI:2685483 RGD:1562278 617161 HGNC:28283 "ENST00000447459.7|NM_001109763.2" +HGNC:51826 GSG1L2 GSG1 like 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 2015-07-08 2016-06-30 2016-06-30 644070 ENSG00000214978 OTTHUMG00000178429 NM_001310219 CCDS82072 A8MUP6 MGI:3650209 RGD:9156678 HGNC:51826 "ENST00000399363.5|NM_001310219.2" +HGNC:4616 GSK3A glycogen synthase kinase 3 alpha protein-coding gene gene with protein product Approved 19q13.2 19q13.2 1997-05-15 2016-10-05 2931 ENSG00000105723 OTTHUMG00000150722 uc002otb.2 NM_019884 CCDS12599 P49840 9809441 MGI:2152453 RGD:620351 606784 objectId:2029 HGNC:4616 "ENST00000222330.8|NM_019884.3" +HGNC:4617 GSK3B glycogen synthase kinase 3 beta protein-coding gene gene with protein product Approved 3q13.33 03q13.33 1997-05-15 2016-10-05 2932 ENSG00000082701 OTTHUMG00000133765 uc003edn.4 BC012760 NM_001146156 "CCDS2996|CCDS54628" P49841 10486203 MGI:1861437 RGD:70982 605004 objectId:2030 HGNC:4617 "ENST00000264235.13|NM_001146156.2" +HGNC:55635 GSK3B-DT GSK3B divergent transcript non-coding RNA RNA, long non-coding Approved 3q13.33 03q13.33 Divergent transcripts 1990 2021-06-24 2021-06-24 107986119 ENSG00000242622 +HGNC:20343 GSKIP GSK3B interacting protein protein-coding gene gene with protein product Approved 14q32.2 14q32.2 GSK3beta interaction protein C14orf129 chromosome 14 open reading frame 129 2003-01-28 2012-09-25 2012-09-25 2012-09-25 51527 ENSG00000100744 OTTHUMG00000171420 uc031qqf.2 AF151044 NM_016472 CCDS32153 Q9P0R6 "16981698|21328310" MGI:1914037 RGD:1308470 616605 470416 HGNC:20343 "ENST00000555181.6|NM_016472.5" +HGNC:4620 GSN gelsolin protein-coding gene gene with protein product Approved 9q33.2 09q33.2 DKFZp313L0718 amyloidosis, Finnish type gelsolin (amyloidosis, Finnish type) Gelsolin/villins 950 1988-07-19 2010-04-27 2016-10-05 2934 ENSG00000148180 OTTHUMG00000020584 uc064vkv.1 X04412 NM_000177 "CCDS75890|CCDS48011|CCDS75891|CCDS65118|CCDS6829|CCDS6828" P06396 1652889 MGI:95851 RGD:1303089 137350 122296 HGNC:4620 "ENST00000432226.7|NM_198252.3" HGNC:4620 +HGNC:23372 GSN-AS1 GSN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q33.2 09q33.2 MOST2 C9orf31 "chromosome 9 open reading frame 31|GSN antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-11-22 2012-03-13 2012-08-15 2016-10-05 57000 ENSG00000235865 OTTHUMG00000020586 uc033dha.1 AF220263 NR_103560 Q9NRJ2 GSN-AS1 HGNC:23372 +HGNC:4621 GSPT1 G1 to S phase transition 1 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "GST1|ETF3A|eRF3a" eukaryotic release factor 3a SURF complex 1963 1992-02-07 2018-01-22 2935 ENSG00000103342 OTTHUMG00000172956 uc002dbt.4 BC008391 NM_002094 "CCDS45413|CCDS45412|CCDS45414" P15170 "2511002|17700517" MGI:1316728 RGD:2751 139259 HGNC:4621 "ENST00000434724.7|NM_002094.4" +HGNC:4622 GSPT2 G1 to S phase transition 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "eRF3b|FLJ10441" SURF complex 1963 1999-05-05 2020-04-02 23708 ENSG00000189369 OTTHUMG00000021538 uc004dpl.4 AI285711 NM_018094 CCDS14336 Q8IYD1 10575220 MGI:1316727 RGD:1563213 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GSPT2 300418 HGNC:4622 "ENST00000340438.6|NM_018094.5" +HGNC:4623 GSR glutathione-disulfide reductase protein-coding gene gene with protein product Approved 8p12 08p12 glutathione S-reductase glutathione reductase 2001-06-22 2016-06-30 2021-04-13 2936 ENSG00000104687 OTTHUMG00000163946 uc003xih.3 NM_000637 "CCDS56532|CCDS34877|CCDS56530|CCDS56531" P00390 MGI:95804 RGD:621747 LRG_1167|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1167.xml 138300 122298 objectId:2613 1.8.1.7 HGNC:4623 "ENST00000221130.11|NM_000637.5" HGNC:4623 +HGNC:4624 GSS glutathione synthetase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 1991-05-01 2021-04-13 2937 ENSG00000100983 OTTHUMG00000032315 uc002xbg.4 NM_000178 CCDS13245 P48637 8825653 MGI:95852 RGD:2752 LRG_1168|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1168.xml 601002 122300 6.3.2.3 HGNC:4624 "ENST00000651619.1|NM_000178.4" HGNC:4624 +HGNC:4626 GSTA1 glutathione S-transferase alpha 1 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 glutathione S-transferase A1 Soluble glutathione S-transferases 567 1991-12-06 2008-11-26 2015-09-10 2938 ENSG00000243955 OTTHUMG00000014861 uc003paz.4 NM_001319059 CCDS4945 P08263 9503014 "MGI:95863|MGI:1095417|MGI:1309515|MGI:3704339" RGD:2753 138359 2.5.1.18 HGNC:4626 "ENST00000334575.6|NM_145740.5" +HGNC:4627 GSTA2 glutathione S-transferase alpha 2 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 GST2 glutathione S-transferase A2 Soluble glutathione S-transferases 567 1986-01-01 2008-11-26 2015-09-10 2939 ENSG00000244067 OTTHUMG00000016263 uc003pay.4 AL109918 NM_000846 CCDS4944 P09210 "MGI:95863|MGI:1095417|MGI:3704339" RGD:2754 138360 2.5.1.18 HGNC:4627 "ENST00000493422.3|NM_000846.5" +HGNC:4628 GSTA3 glutathione S-transferase alpha 3 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 glutathione S-transferase A3 Soluble glutathione S-transferases 567 1994-04-29 2008-11-26 2015-09-10 2940 ENSG00000174156 OTTHUMG00000014865 uc003pbb.4 AF020919 NM_000847 "CCDS87412|CCDS4947" Q16772 "8307579|9480897" "MGI:95856|MGI:95863|MGI:1095417|MGI:3704339" 605449 2.5.1.18 HGNC:4628 "ENST00000211122.4|NM_000847.5" +HGNC:4629 GSTA4 glutathione S-transferase alpha 4 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 glutathione S-transferase A4 Soluble glutathione S-transferases 567 1998-06-22 2008-11-26 2014-11-19 2941 ENSG00000170899 OTTHUMG00000014868 uc003pbf.4 AF020918 NM_001512 CCDS4948 O15217 9480897 RGD:1309970 605450 2.5.1.18 HGNC:4629 "ENST00000370963.9|NM_001512.4" +HGNC:19662 GSTA5 glutathione S-transferase alpha 5 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 glutathione S-transferase A5 Soluble glutathione S-transferases 567 2002-11-11 2008-11-26 2015-09-10 221357 ENSG00000182793 OTTHUMG00000014857 uc003pba.2 BK000212 NM_153699 CCDS4946 Q7RTV2 12042665 "MGI:95863|MGI:1095417|MGI:3704339" RGD:1593189 607605 2.5.1.18 HGNC:19662 +HGNC:4630 GSTA6P glutathione S-transferase alpha 6, pseudogene pseudogene pseudogene Approved 6p12.2 06p12.2 GSTAP1 "glutathione S-transferase A pseudogene 1|glutathione S-transferase alpha pseudogene 1" Soluble glutathione S-transferases 567 1993-05-26 2009-12-08 2009-12-08 2014-11-19 2942 ENSG00000223622 OTTHUMG00000014858 L13269 NG_001135 8307579 PGOHUM00000243196 HGNC:4630 +HGNC:4631 GSTA7P glutathione S-transferase alpha 7, pseudogene pseudogene pseudogene Approved 6p12.2 06p12.2 GSTAP6 GSTAP2 "glutathione S-transferase A pseudogene 2|glutathione S-transferase alpha pseudogene 2" Soluble glutathione S-transferases 567 1994-05-19 2009-12-08 2009-12-08 2014-11-18 730152 ENSG00000237674 OTTHUMG00000014855 NR_033760 1329668 PGOHUM00000243194 HGNC:4631 +HGNC:49903 GSTA8P glutathione S-transferase alpha 8, pseudogene pseudogene pseudogene Approved 6p12.2 06p12.2 GSTAP7 2014-06-04 2014-06-04 100420627 ENSG00000220377 OTTHUMG00000014853 NG_025819 12042665 PGOHUM00000243193 HGNC:49903 +HGNC:49902 GSTA9P glutathione S-transferase alpha 9, pseudogene pseudogene pseudogene Approved 6p12.2 06p12.2 "GSTAP4|GSTA4P" 2014-06-04 2014-06-04 100174857 ENSG00000243236 OTTHUMG00000014863 NG_008343 12042665 PGOHUM00000243199 HGNC:49902 +HGNC:49904 GSTA10P glutathione S-transferase alpha 10, pseudogene pseudogene pseudogene Approved 6p12.2 06p12.2 GSTAP2 2014-06-04 2014-06-04 647177 ENSG00000230845 OTTHUMG00000014860 NG_029176 12042665 PGOHUM00000243198 HGNC:49904 +HGNC:49905 GSTA11P glutathione S-transferase alpha 11, pseudogene pseudogene pseudogene Approved 6p12.2 06p12.2 GSTAP3 2014-06-04 2014-06-04 647175 ENSG00000230375 OTTHUMG00000014859 NG_029175 12042665 PGOHUM00000243197 HGNC:49905 +HGNC:49906 GSTA12P glutathione S-transferase alpha 12, pseudogene pseudogene pseudogene Approved 6p12.2 06p12.2 GSTAP5 2014-06-04 2014-06-04 647169 ENSG00000217228 OTTHUMG00000014852 NG_022299 12042665 PGOHUM00000243195 HGNC:49906 +HGNC:25806 GSTCD glutathione S-transferase C-terminal domain containing protein-coding gene gene with protein product Approved 4q24 04q24 FLJ13273 7BS orphan methyltransferases 2066 2006-04-03 2016-01-13 2019-02-21 79807 ENSG00000138780 OTTHUMG00000131211 uc003hxy.4 BC032942 NM_024751 "CCDS3672|CCDS43257" Q8NEC7 24058608 MGI:1914803 RGD:1311822 615912 HGNC:25806 "ENST00000515279.6|NM_001370181.1" +HGNC:41117 GSTCD-AS1 GSTCD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Antisense RNAs 1987 2019-08-07 2019-08-07 101929529 ENSG00000251175 OTTHUMG00000161179 NR_125927 HGNC:41117 +HGNC:16906 GSTK1 glutathione S-transferase kappa 1 protein-coding gene gene with protein product Approved 7q34 07q34 GST13 Soluble glutathione S-transferases 567 2004-10-22 2014-11-19 373156 ENSG00000197448 OTTHUMG00000152637 uc003wci.4 NM_015917 "CCDS5877|CCDS47732|CCDS47731|CCDS47730" Q9Y2Q3 "12720545|14742434" MGI:1923513 RGD:735188 602321 2.5.1.18 HGNC:16906 "ENST00000358406.10|NM_015917.3" +HGNC:4632 GSTM1 glutathione S-transferase mu 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "MU|H-B" GST1 glutathione S-transferase M1 Soluble glutathione S-transferases 567 1989-05-24 2008-11-26 2015-09-10 2944 ENSG00000134184 OTTHUMG00000011635 uc001dyk.4 BC036805 NM_000561 "CCDS809|CCDS810" P09488 "MGI:95860|MGI:95861|MGI:106026|MGI:1309467" RGD:2755 138350 2.5.1.18 HGNC:4632 "ENST00000309851.10|NM_000561.4" +HGNC:4634 GSTM2 glutathione S-transferase mu 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 GST4 "glutathione S-transferase M2 (muscle)|glutathione S-transferase mu 2 (muscle)" Soluble glutathione S-transferases 567 1991-12-06 2016-06-27 2016-06-27 2946 ENSG00000213366 OTTHUMG00000011638 uc001dyj.4 M63509 NM_000848 "CCDS808|CCDS44192" P28161 "2034681|2345169" MGI:1915562 RGD:2756 138380 2.5.1.18 HGNC:4634 "ENST00000241337.9|NM_000848.4" +HGNC:38009 GSTM2P1 glutathione S-transferase mu 2 pseudogene 1 pseudogene pseudogene Approved 6q21 06q21 glutathione S-transferase mu 2 (muscle) pseudogene 1 2010-03-19 2016-06-27 2016-06-27 442245 ENSG00000218803 OTTHUMG00000015367 NR_002932 PGOHUM00000243327 HGNC:38009 +HGNC:4635 GSTM3 glutathione S-transferase mu 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 GST5 "glutathione S-transferase M3 (brain)|glutathione S-transferase mu 3 (brain)" Soluble glutathione S-transferases 567 1991-12-06 2016-06-27 2016-06-27 2947 ENSG00000134202 OTTHUMG00000011640 uc057jbx.1 BC000088 NM_000849 CCDS812 P21266 2345169 MGI:1309466 "RGD:11402080|RGD:61964" 138390 2.5.1.18 HGNC:4635 "ENST00000361066.7|NM_000849.5" +HGNC:16606 GSTM3P1 glutathione S-transferase mu 3 pseudogene 1 pseudogene pseudogene Approved 20p11.22 20p11.22 dJ984P4.2 GSTM3P "glutathione S-transferase M3 pseudogene|glutathione S-transferase mu 3 pseudogene" 2001-09-17 2010-03-17 2010-03-17 2014-11-19 170523 ENSG00000227693 OTTHUMG00000032028 AL133325 NG_001040 PGOHUM00000247610 HGNC:16606 +HGNC:38006 GSTM3P2 glutathione S-transferase mu 3 pseudogene 2 pseudogene pseudogene Approved 2q24.2 02q24.2 2010-03-19 2014-11-19 100421057 ENSG00000226878 OTTHUMG00000154040 NG_021533 PGOHUM00000240402 HGNC:38006 +HGNC:4636 GSTM4 glutathione S-transferase mu 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 glutathione S-transferase M4 Soluble glutathione S-transferases 567 1993-05-12 2008-11-26 2015-09-11 2948 ENSG00000168765 OTTHUMG00000011642 uc001dyf.4 M96234 NM_000850 "CCDS807|CCDS806" Q03013 8276420 MGI:95862 RGD:1565825 138333 2.5.1.18 HGNC:4636 "ENST00000369836.9|NM_000850.5" +HGNC:4637 GSTM5 glutathione S-transferase mu 5 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 glutathione S-transferase M5 Soluble glutathione S-transferases 567 1993-06-15 2008-11-26 2014-11-19 2949 ENSG00000134201 OTTHUMG00000011644 uc001dyn.4 L02321 NM_000851 CCDS811 P46439 8473333 MGI:95861 RGD:620381 138385 2.5.1.18 HGNC:4637 "ENST00000256593.8|NM_000851.4" +HGNC:4633 GSTM5P1 glutathione S-transferase mu 5 pseudogene 1 pseudogene pseudogene Approved 3p25.2 03p25.2 "GST1L|GSTM1L" "glutathione S-transferase M1-like|glutathione S-transferase mu 1-like" 1989-09-20 2010-03-19 2010-03-19 2020-04-20 100505557 ENSG00000236062 OTTHUMG00000155336 NG_012650 2737666 PGOHUM00000237536 HGNC:4633 +HGNC:13312 GSTO1 glutathione S-transferase omega 1 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "GSTTLp28|P28" Soluble glutathione S-transferases 567 2003-09-01 2015-09-11 9446 ENSG00000148834 OTTHUMG00000019001 uc001kya.4 AF212303 NM_004832 "CCDS53573|CCDS53572|CCDS7555" P78417 "10783391|12618591" MGI:1342273 RGD:70952 605482 objectId:3110 "2.5.1.18|1.8.5.1|1.20.4.2" HGNC:13312 "ENST00000369713.10|NM_004832.3" +HGNC:23064 GSTO2 glutathione S-transferase omega 2 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 Soluble glutathione S-transferases 567 2003-09-01 2015-09-11 119391 ENSG00000065621 OTTHUMG00000019006 uc001kyb.4 AY191318 NM_183239 "CCDS53575|CCDS7556|CCDS53574" Q9H4Y5 12618591 MGI:1915464 RGD:1310764 612314 "2.5.1.18|1.8.5.1|1.20.4.2" HGNC:23064 "ENST00000338595.7|NM_183239.2" +HGNC:23065 GSTO3P glutathione S-transferase omega 3, pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 GSTO3P1 glutathione S-transferase omega 3 pseudogene 1 Soluble glutathione S-transferases 567 2003-09-01 2009-12-08 2009-12-08 2014-11-19 344813 ENSG00000232829 OTTHUMG00000159700 NG_005668 12618591 PGOHUM00000238188 HGNC:23065 +HGNC:4638 GSTP1 glutathione S-transferase pi 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 GSTP "FAEES3|GST3" Soluble glutathione S-transferases 567 1986-01-01 2008-07-18 2021-04-13 2950 ENSG00000084207 OTTHUMG00000137430 uc001omf.4 U12472 NM_000852 CCDS41679 P09211 "1885604|7587384|19915149" "MGI:2385078|MGI:95864|MGI:95865" RGD:2758 LRG_723|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_723.xml 134660 2.5.1.18 HGNC:4638 "ENST00000398606.10|NM_000852.4" +HGNC:4640 GSTP1P1 glutathione S-transferase pi 1 pseudogene 1 pseudogene pseudogene Approved 12q13.2 12q13.2 "GSTP1P|Lnc712" "GST3L|GSTPL|GSTPP" glutathione S-transferase pi 1 pseudogene 1989-06-30 2010-04-28 2010-04-28 2020-01-10 2951 ENSG00000257569 OTTHUMG00000170203 NG_004638 PGOHUM00000291688 HGNC:4640 +HGNC:4641 GSTT1 glutathione S-transferase theta 1 protein-coding gene gene with protein product Approved 22q11.23 alternate reference locus 22q11.23 alternate reference locus Soluble glutathione S-transferases 567 1994-08-10 2015-07-31 2952 ENSG00000277656 uc002zze.4 KI270879 NM_000853 P30711 8617495 MGI:107379 RGD:2765 600436 470418 2.5.1.18 +HGNC:51839 GSTT1-AS1 GSTT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.23 alternate reference locus 22q11.23 alternate reference locus "lncRNA-AS-GSTT1(1-72)|lncRNA-CD244|lncRNA-BC050410" Antisense RNAs 1987 2015-08-05 2015-08-05 106099130 "KI270879|BC050410" NR_132348 26150504 +HGNC:4642 GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) protein-coding gene gene with protein product Approved 22q11.23 22q11.23 glutathione S-transferase theta 2 Soluble glutathione S-transferases 567 1994-08-16 2014-10-10 2015-09-07 2953 ENSG00000099984 OTTHUMG00000150786 uc062cim.2 L38503 NM_000854 P0CG29 "7789971|9729470" MGI:106188 RGD:69362 600437 2.5.1.18 HGNC:4642 +HGNC:33437 GSTT2B glutathione S-transferase theta 2B protein-coding gene gene with protein product Approved 22q11.23 22q11.23 GSTT2P glutathione S-transferase theta 2B (gene/pseudogene) Soluble glutathione S-transferases 567 2007-06-19 2020-05-01 2020-05-01 653689 ENSG00000133433 OTTHUMG00000150774 uc002zyw.5 BC071700 NM_001080843 "CCDS87010|CCDS33617" P0CG30 "9729470|19424424" MGI:106188 2.5.1.18 HGNC:33437 "ENST00000290765.9|NM_001080843.4" +HGNC:55078 GSTT3P glutathione S-transferase theta 3, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 2021-07-06 2021-07-06 121853073 ENSG00000224205 MGI:2143526 PGOHUM00000306560 +HGNC:26930 GSTT4 glutathione S-transferase theta 4 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 HS322B1A GSTTP1 glutathione S-transferase theta pseudogene 1 Soluble glutathione S-transferases 567 2007-08-17 2017-12-15 2017-12-15 2020-06-15 25774 ENSG00000276950 OTTHUMG00000150811 AL050257 NM_001358664 CCDS87011 A0A1W2PR19 10334644 MGI:1923136 RGD:1591294 HGNC:26930 "ENST00000621179.6|NM_001358664.2" +HGNC:33606 GSTTP2 glutathione S-transferase theta pseudogene 2 pseudogene pseudogene Approved 22q11.23 alternate reference locus 22q11.23 alternate reference locus 2007-08-17 2015-02-04 653399 KI270879 NR_003082 +HGNC:4643 GSTZ1 glutathione S-transferase zeta 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "GSTZ1-1|MAAI|MAI" maleylacetoacetate isomerase glutathione transferase zeta 1 Soluble glutathione S-transferases 567 1998-06-25 2012-06-22 2015-09-11 2954 ENSG00000100577 OTTHUMG00000171551 uc001xtj.4 U86529 NM_145870 "CCDS9858|CCDS86416|CCDS9859|CCDS9860" O43708 "9396740|9417084" MGI:1341859 RGD:1589363 603758 "5.2.1.2|2.5.1.18" HGNC:4643 "ENST00000216465.10|NM_145870.3" HGNC:4643 +HGNC:20374 GSX1 GS homeobox 1 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 Gsh-1 GSH1 HOXL subclass homeoboxes 518 2003-02-18 2007-07-26 2014-11-18 219409 ENSG00000169840 OTTHUMG00000016637 uc001urr.2 AB044157 NM_145657 CCDS9326 Q9H4S2 MGI:95842 RGD:1310020 616542 8374 HGNC:20374 "ENST00000302945.3|NM_145657.3" +HGNC:24959 GSX2 GS homeobox 2 protein-coding gene gene with protein product Approved 4q12 04q12 Gsh2 HOXL subclass homeoboxes 518 2007-07-26 2014-11-18 170825 ENSG00000180613 OTTHUMG00000128696 uc062wqq.1 NM_133267 CCDS3494 Q9BZM3 "11861295|12205114" MGI:95843 RGD:1308047 616253 8375 HGNC:24959 "ENST00000326902.7|NM_133267.3" +HGNC:20887 GTDC1 glycosyltransferase like domain containing 1 protein-coding gene gene with protein product Approved 2q22.3 02q22.3 "FLJ11753|Hmat-Xa" mannosyltransferase-like glycosyltransferase-like domain containing 1 Glycosyl transferases group 1 domain containing 427 2005-01-10 2015-11-12 2015-11-12 79712 ENSG00000121964 OTTHUMG00000131835 uc010fnn.5 AY281366 NM_024659 "CCDS86884|CCDS33300|CCDS2185|CCDS63029|CCDS74583|CCDS74582" Q4AE62 "15068588|21821951" MGI:2444269 RGD:1563393 610165 HGNC:20887 "ENST00000682281.1|NM_001376312.2" +HGNC:4646 GTF2A1 general transcription factor IIA subunit 1 protein-coding gene gene with protein product Approved 14q31.1 14q31.1 TFIIA TFIIA alpha/beta subunits "glucose regulated protein, 58kD pseudogene|general transcription factor IIA, 1, 19/37kDa|general transcription factor IIA 1" "General transcription factor IIA complex subunits|Small nucleolar RNA protein coding host genes" "1748|1835" 1994-01-27 2016-04-26 2016-10-06 2957 ENSG00000165417 OTTHUMG00000171414 uc001xvf.4 X75383 NM_015859 "CCDS9873|CCDS9874" P52655 8224848 MGI:1933277 RGD:69246 600520 HGNC:4646 "ENST00000553612.6|NM_015859.4" +HGNC:56195 GTF2A1-AS1 GTF2A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q31.1 14q31.1 Antisense RNAs 1987 2022-01-31 2022-01-31 101928504 ENSG00000273783 NR_135252 +HGNC:30727 GTF2A1L general transcription factor IIA subunit 1 like protein-coding gene gene with protein product Approved 2p16.3 02p16.3 ALF TFIIA alpha/beta like factor "general transcription factor IIA, 1-like|general transcription factor IIA 1 like" General transcription factor IIA complex subunits 1748 2007-08-02 2016-04-26 2016-04-26 11036 ENSG00000242441 OTTHUMG00000152038 uc002rws.4 AF106857 NM_006872 "CCDS54359|CCDS46281" Q9UNN4 "10364255|11889132|16525715" MGI:1919078 RGD:1308625 605358 HGNC:30727 "ENST00000403751.8|NM_006872.5" +HGNC:4647 GTF2A2 general transcription factor IIA subunit 2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "TFIIA|HsT18745" TFIIA gamma subunit "general transcription factor IIA, 2 (12kD subunit)|general transcription factor IIA, 2, 12kDa|general transcription factor IIA 2" General transcription factor IIA complex subunits 1748 1994-10-25 2016-04-26 2016-10-05 2958 ENSG00000140307 OTTHUMG00000132725 uc002agg.3 BC001919 NM_004492 CCDS10173 P52657 7958899 MGI:1933289 RGD:620720 600519 HGNC:4647 "ENST00000396060.7|NM_004492.3" +HGNC:4648 GTF2B general transcription factor IIB protein-coding gene gene with protein product Approved 1p22.2 01p22.2 TFIIB General transcription factors 565 1993-08-16 2016-10-05 2959 ENSG00000137947 OTTHUMG00000010611 uc001dmo.5 M76766 NM_001514 CCDS715 Q00403 "1876184|8162052" MGI:2385191 RGD:619735 189963 HGNC:4648 "ENST00000370500.10|NM_001514.6" +HGNC:4650 GTF2E1 general transcription factor IIE subunit 1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "TFIIE-A|FE" TFIIE alpha subunit "general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)|general transcription factor IIE, polypeptide 1, alpha 56kDa" General transcription factor IIE complex subunits 1746 1993-08-20 2015-11-09 2016-10-05 2960 ENSG00000153767 OTTHUMG00000159667 uc003edz.5 S67859 NM_005513 CCDS3002 P29083 "1454543|8162052" MGI:1921447 RGD:1306851 189962 HGNC:4650 "ENST00000283875.6|NM_005513.3" +HGNC:4651 GTF2E2 general transcription factor IIE subunit 2 protein-coding gene gene with protein product Approved 8p12 08p12 "TFIIE-B|FE|TF2E2" "TFIIE beta subunit|Transcription initiation factor IIE subunit beta" "general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)|general transcription factor IIE, polypeptide 2, beta 34kDa" General transcription factor IIE complex subunits 1746 1993-08-16 2015-11-09 2018-03-06 2961 ENSG00000197265 OTTHUMG00000163934 uc003xig.4 BC030572 NM_002095 CCDS6078 P29084 1956404 MGI:1915403 RGD:1310134 189964 458989 HGNC:4651 "ENST00000355904.9|NM_002095.6" HGNC:4651 +HGNC:4652 GTF2F1 general transcription factor IIF subunit 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "TFIIF|BTF4|RAP74|TF2F1" "general transcription factor IIF, polypeptide 1 (74kD subunit)|general transcription factor IIF, polypeptide 1, 74kDa" "MicroRNA protein coding host genes|General transcription factor IIF complex subunits" "1691|1750" 1992-11-04 2015-11-09 2015-11-09 2962 ENSG00000125651 OTTHUMG00000168087 uc002meq.3 NM_002096 CCDS12165 P35269 1734284 MGI:1923848 RGD:1359646 189968 HGNC:4652 "ENST00000394456.10|NM_002096.3" +HGNC:4653 GTF2F2 general transcription factor IIF subunit 2 protein-coding gene gene with protein product Approved 13q14.12-q14.13 13q14.12-q14.13 "TFIIF|BTF4|RAP30" "general transcription factor IIF, polypeptide 1 (74kD subunit)|general transcription factor IIF, polypeptide 2, 30kDa" General transcription factor IIF complex subunits 1750 1992-11-04 2015-11-09 2018-02-13 2963 ENSG00000188342 OTTHUMG00000016849 uc001uzw.4 X16901 NM_004128 CCDS9395 P13984 8162052 MGI:1915955 RGD:620772 189969 HGNC:4653 "ENST00000340473.8|NM_004128.3" +HGNC:4654 GTF2F2P1 general transcription factor IIF subunit 2 pseudogene 1 pseudogene pseudogene Approved 4q31.23 04q31.23 TFIIF GTF2F2L "general transcription factor IIF, polypeptide 2-like|general transcription factor IIF, polypeptide 2 pseudogene 1" 1994-07-26 2010-10-14 2015-11-09 2016-10-05 2964 ENSG00000251254 OTTHUMG00000161355 NG_003013 7835093 PGOHUM00000246098 HGNC:4654 +HGNC:39092 GTF2F2P2 general transcription factor IIF subunit 2 pseudogene 2 pseudogene pseudogene Approved 1p34.2 01p34.2 general transcription factor IIF, polypeptide 2 pseudogene 2 2010-10-14 2015-11-09 2015-11-09 728633 ENSG00000233910 OTTHUMG00000007456 NG_022719 PGOHUM00000243979 HGNC:39092 +HGNC:4655 GTF2H1 general transcription factor IIH subunit 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "BTF2|P62|TFIIH" "general transcription factor IIH, polypeptide 1 (62kD subunit)|general transcription factor IIH, polypeptide 1, 62kDa" "Nucleotide excision repair|General transcription factor IIH complex subunits" "1269|1745" 1993-08-16 2015-11-09 2016-10-05 2965 ENSG00000110768 OTTHUMG00000167690 uc001moh.3 NM_005316 CCDS7838 P32780 "1529339|8162052" MGI:1277216 RGD:1308225 189972 HGNC:4655 "ENST00000265963.9|NM_005316.4" +HGNC:4656 GTF2H2 general transcription factor IIH subunit 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "BTF2|TFIIH|BTF2P44|T-BTF2P44|p44" "general transcription factor IIH, polypeptide 2 (44kD subunit)|general transcription factor IIH, polypeptide 2, 44kDa" "Nucleotide excision repair|General transcription factor IIH complex subunits" "1269|1745" 1994-11-01 2015-11-09 2015-11-09 2966 ENSG00000145736 OTTHUMG00000164542 uc003kav.6 Z30094 NM_001515 CCDS34183 Q13888 8194529 MGI:1345669 601748 HGNC:4656 +HGNC:31393 GTF2H2B general transcription factor IIH subunit 2B (pseudogene) pseudogene pseudogene Approved 5q13.2 05q13.2 DKFZP686M0199 "general transcription factor IIH, polypeptide 2B|general transcription factor IIH, polypeptide 2B (pseudogene)" 2008-07-04 2015-11-09 2021-10-07 653238 ENSG00000226259 OTTHUMG00000162394 NR_033417 PGOHUM00000300994 HGNC:31393 +HGNC:31394 GTF2H2C GTF2H2 family member C protein-coding gene gene with protein product Approved 5q13.2 05q13.2 general transcription factor IIH, polypeptide 2C 2009-01-09 2014-03-28 2015-09-10 728340 ENSG00000183474 OTTHUMG00000162365 uc003jwz.6 NM_001098728 CCDS43325 Q6P1K8 MGI:1345669 RGD:1310499 HGNC:31394 "ENST00000380729.8|NM_001376000.2" +HGNC:35418 GTF2H2C_2 GTF2H2 family member C, copy 2 protein-coding gene gene with protein product Approved 5q13.2 alternate reference locus 05q13.2 alternate reference locus LOC730394 GTF2H2D general transcription factor IIH, polypeptide 2D 2009-01-09 2014-03-28 2014-03-28 2014-03-28 730394 "BC064557|BC065021|GL339449" NM_001042490 Q6P1K8 MGI:1345669 +HGNC:4657 GTF2H3 general transcription factor IIH subunit 3 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "BTF2|TFIIH|P34" "general transcription factor IIH, polypeptide 3 (34kD subunit)|general transcription factor IIH, polypeptide 3, 34kDa" "Nucleotide excision repair|General transcription factor IIH complex subunits" "1269|1745" 1994-11-01 2015-11-09 2015-11-09 2967 ENSG00000111358 OTTHUMG00000168697 uc001ufo.3 Z30093 NM_001516 "CCDS61275|CCDS73544|CCDS9252" Q13889 8194529 MGI:1277143 RGD:1305494 601750 HGNC:4657 "ENST00000543341.7|NM_001516.5" +HGNC:4658 GTF2H4 general transcription factor IIH subunit 4 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "TFB2|TFIIH|P52" "general transcription factor IIH, polypeptide 4 (52kD subunit)|general transcription factor IIH, polypeptide 4, 52kDa" "Nucleotide excision repair|General transcription factor IIH complex subunits" "1269|1745" 1998-08-19 2015-11-09 2016-10-05 2968 ENSG00000213780 OTTHUMG00000031043 uc003nsa.2 Y07595 NM_001517 CCDS34386 Q92759 9118947 MGI:1338799 RGD:1303309 601760 HGNC:4658 "ENST00000259895.9|NM_001517.5" +HGNC:21157 GTF2H5 general transcription factor IIH subunit 5 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ30544|bA120J8.2|TTD-A|TFB5|TFIIH|TTDA" DNA repair syndrome trichothiodystrophy group A "C6orf175|TTD" "chromosome 6 open reading frame 175|trichothiodystrophy|general transcription factor IIH, polypeptide 5" "Nucleotide excision repair|General transcription factor IIH complex subunits" "1269|1745" 2003-11-25 2004-07-16 2015-11-09 2021-04-13 404672 ENSG00000272047 OTTHUMG00000015906 uc003qrd.4 AK055106 NM_207118 CCDS5256 Q6ZYL4 15220921 MGI:107227 RGD:1560991 LRG_469|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_469.xml 608780 122302 HGNC:21157 "ENST00000607778.2|NM_207118.3" HGNC:21157 +HGNC:4659 GTF2I general transcription factor IIi protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "TFII-I|BAP-135|SPIN|BTKAP1|DIWS|IB291" WBSCR6 general transcription factor II, i General transcription factors 565 1997-09-12 2009-07-23 2015-05-05 2969 ENSG00000263001 OTTHUMG00000156237 uc003uau.5 U77948 NM_032999 "CCDS5573|CCDS5574|CCDS5575|CCDS47614|CCDS64680" P78347 "9334314|9012831" MGI:1202722 RGD:727961 601679 122310 HGNC:4659 "ENST00000573035.6|NM_032999.4" +HGNC:55572 GTF2I-AS1 GTF2I antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q11.23 07q11.23 Antisense RNAs 1987 2021-04-21 2021-04-21 101926943 ENSG00000232729 NR_110044 +HGNC:4660 GTF2IP1 general transcription factor IIi pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 WBSCR7 general transcription factor II, i, pseudogene 1 1997-09-12 2015-05-18 2015-05-18 2970 ENSG00000277053 OTTHUMG00000181536 AF036613 NR_002206 9466987 PGOHUM00000302304 HGNC:4660 +HGNC:16082 GTF2IP2 general transcription factor IIi pseudogene 2 pseudogene pseudogene Approved 21q11.2 21q11.2 general transcription factor II, i, pseudogene 2 2003-03-24 2015-05-18 2015-05-18 338448 ENSG00000226930 OTTHUMG00000074198 NG_031936 PGOHUM00000297206 HGNC:16082 +HGNC:42640 GTF2IP3 general transcription factor IIi pseudogene 3 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-08-10 2015-05-18 2015-05-18 645686 ENSG00000187721 OTTHUMG00000016473 NG_023043 PGOHUM00000291863 HGNC:42640 +HGNC:51716 GTF2IP4 general transcription factor IIi pseudogene 4 pseudogene pseudogene Approved 7q11.23 07q11.23 2015-05-18 2016-01-18 2016-01-18 100093631 ENSG00000233369 OTTHUMG00000156702 NR_003580 PGOHUM00000302803 HGNC:51716 +HGNC:51717 GTF2IP5 general transcription factor IIi pseudogene 5 pseudogene pseudogene Approved 7q11.21 07q11.21 2015-05-18 2015-05-18 100420546 ENSG00000224316 OTTHUMG00000156734 NG_026590 PGOHUM00000302768 HGNC:51717 +HGNC:51718 GTF2IP6 general transcription factor IIi pseudogene 6 pseudogene pseudogene Approved 17q11.1 17q11.1 2015-05-18 2015-05-18 101927390 ENSG00000266736 OTTHUMG00000179166 PGOHUM00000294020 HGNC:51718 +HGNC:51720 GTF2IP7 general transcription factor IIi pseudogene 7 pseudogene pseudogene Approved 7q11.23 07q11.23 2015-05-18 2015-05-18 101927126 ENSG00000227038 OTTHUMG00000156626 NR_135079 PGOHUM00000302315 HGNC:51720 +HGNC:51719 GTF2IP8 general transcription factor IIi pseudogene 8 pseudogene pseudogene Approved 18p11.21 18p11.21 2015-05-18 2015-05-18 101927717 ENSG00000276318 OTTHUMG00000187942 XR_007066431 HGNC:51719 +HGNC:51721 GTF2IP9 general transcription factor IIi pseudogene 9 pseudogene pseudogene Approved 7q11.21 07q11.21 2015-05-18 2015-05-18 106481734 ENSG00000251451 OTTHUMG00000156592 NG_045062 PGOHUM00000302268 HGNC:51721 +HGNC:51722 GTF2IP10 general transcription factor IIi pseudogene 10 pseudogene pseudogene Approved 1p36.33 01p36.33 2015-05-18 2015-05-18 107403151 NG_046805 PGOHUM00000295506 HGNC:51722 +HGNC:51724 GTF2IP11 general transcription factor IIi pseudogene 11 pseudogene pseudogene Approved 11p11.12 11p11.12 2015-05-18 2015-05-18 106480346 ENSG00000255199 OTTHUMG00000166758 NG_044634 PGOHUM00000290482 HGNC:51724 +HGNC:51723 GTF2IP12 general transcription factor IIi pseudogene 12 pseudogene pseudogene Approved 4q26 04q26 2015-05-18 2016-10-04 101926918 ENSG00000283050 OTTHUMG00000161335 NR_135112 HGNC:51723 +HGNC:51725 GTF2IP13 general transcription factor IIi pseudogene 13 pseudogene pseudogene Approved 7p12.3 07p12.3 2015-05-18 2016-10-04 101929008 ENSG00000272556 OTTHUMG00000155422 XR_001745191 PGOHUM00000302610 HGNC:51725 +HGNC:51726 GTF2IP14 general transcription factor IIi pseudogene 14 pseudogene pseudogene Approved 7q11.21 07q11.21 2015-05-18 2015-05-18 106481735 ENSG00000226002 OTTHUMG00000156632 NG_043494 PGOHUM00000302753 HGNC:51726 +HGNC:51727 GTF2IP15 general transcription factor IIi pseudogene 15 pseudogene pseudogene Approved 11p11.12 11p11.12 2015-05-18 2015-05-18 107403154 NG_046807 PGOHUM00000290929 HGNC:51727 +HGNC:51728 GTF2IP16 general transcription factor IIi pseudogene 16 pseudogene pseudogene Approved 1q43 01q43 2015-05-18 2015-05-18 PGOHUM00000296137 +HGNC:51729 GTF2IP17 general transcription factor IIi pseudogene 17 pseudogene pseudogene Approved 17p13.3 17p13.3 2015-05-18 2015-05-18 107403156 NG_046809 PGOHUM00000293933 HGNC:51729 +HGNC:51731 GTF2IP19 general transcription factor IIi pseudogene 19 pseudogene pseudogene Approved 19p13.3 19p13.3 2015-05-18 2015-05-18 107403157 NG_046810 PGOHUM00000294833 HGNC:51731 +HGNC:51732 GTF2IP20 general transcription factor IIi pseudogene 20 pseudogene pseudogene Approved 1q42.11 01q42.11 2015-05-18 2016-10-04 441124 ENSG00000272645 OTTHUMG00000037471 NR_132119 HGNC:51732 +HGNC:51733 GTF2IP21 general transcription factor IIi pseudogene 21 pseudogene pseudogene Approved 1p36.33 01p36.33 2015-05-18 2015-05-18 PGOHUM00000295517 +HGNC:51734 GTF2IP22 general transcription factor IIi pseudogene 22 pseudogene pseudogene Approved 14q11.2 14q11.2 2015-05-18 2015-05-18 106480347 ENSG00000259095 OTTHUMG00000170786 NG_045924 PGOHUM00000292283 HGNC:51734 +HGNC:51735 GTF2IP23 general transcription factor IIi pseudogene 23 pseudogene pseudogene Approved 7q11.21 07q11.21 2015-05-18 2015-05-18 101929580 ENSG00000230295 OTTHUMG00000156905 NR_135738 PGOHUM00000302778 HGNC:51735 +HGNC:4661 GTF2IRD1 GTF2I repeat domain containing 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "MusTRD1|RBAP2|GTF3|WBSCR12|BEN|Cream1" binding factor for early enhancer WBSCR11 GTF2I repeat domain-containing 1 1998-11-06 2002-01-14 2014-11-18 9569 ENSG00000006704 OTTHUMG00000023782 uc032zrx.2 AF151354 NM_016328 "CCDS56492|CCDS47613|CCDS5571" Q9UHL9 "9774679|10198167" MGI:1861942 RGD:620856 604318 122319 HGNC:4661 "ENST00000424337.7|NM_005685.4" +HGNC:44136 GTF2IRD1P1 GTF2I repeat domain containing 1 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2012-06-23 2015-02-27 2015-02-27 729156 ENSG00000230583 OTTHUMG00000156927 NR_003934 PGOHUM00000232854 HGNC:44136 +HGNC:30775 GTF2IRD2 GTF2I repeat domain containing 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "FLJ37938|GTF2IRD2A" transcription factor GTF2IRD2 2006-08-30 2014-11-19 84163 ENSG00000196275 OTTHUMG00000181527 uc032zsc.2 BC047706 NM_173537 "CCDS64682|CCDS5576" Q86UP8 15243160 MGI:2149780 608899 HGNC:30775 "ENST00000451013.7|NM_173537.5" +HGNC:33125 GTF2IRD2B GTF2I repeat domain containing 2B protein-coding gene gene with protein product Approved 7q11.23 07q11.23 2006-08-30 2015-09-10 389524 ENSG00000174428 OTTHUMG00000181534 uc003ubt.4 AY312850 NM_001003795 CCDS34659 Q6EKJ0 15100712 MGI:2149780 RGD:1307435 608900 HGNC:33125 "ENST00000472837.7|NM_001003795.3" +HGNC:33127 GTF2IRD2P1 GTF2I repeat domain containing 2 pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 GTF2IRD2P GTF2I repeat domain containing 2 pseudogene 2006-08-30 2010-02-09 2010-02-09 2014-11-19 401375 ENSG00000214544 OTTHUMG00000156803 AY312852 NR_002164 15100712 HGNC:33127 +HGNC:4662 GTF3A general transcription factor IIIA protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "TFIIIA|AP2" "Zinc fingers C2H2-type|General transcription factors" "28|565" 1994-12-22 2016-10-05 2971 ENSG00000122034 OTTHUMG00000016632 uc058wav.1 NM_002097 CCDS45019 Q92664 7789179 MGI:1913846 RGD:619746 600860 HGNC:4662 "ENST00000381140.10|NM_002097.3" +HGNC:49744 GTF3AP1 general transcription factor IIIA pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 2014-02-13 2014-02-13 100135064 ENSG00000237274 OTTHUMG00000019515 NG_007341 PGOHUM00000236373 HGNC:49744 +HGNC:49745 GTF3AP2 general transcription factor IIIA pseudogene 2 pseudogene pseudogene Approved 14q24.2 14q24.2 2014-02-13 2014-02-13 106480682 ENSG00000258966 OTTHUMG00000171287 NG_051070 PGOHUM00000247850 HGNC:49745 +HGNC:49746 GTF3AP3 general transcription factor IIIA pseudogene 3 pseudogene pseudogene Approved 2q36.1 02q36.1 2014-02-13 2014-02-13 112323209 NG_066018 PGOHUM00000241122 HGNC:49746 +HGNC:49747 GTF3AP4 general transcription factor IIIA pseudogene 4 pseudogene pseudogene Approved 5q21.1 05q21.1 2014-02-13 2014-02-13 100420593 NG_024707 PGOHUM00000235719 HGNC:49747 +HGNC:49748 GTF3AP5 general transcription factor IIIA pseudogene 5 pseudogene pseudogene Approved 7p21.2 07p21.2 2014-02-13 2014-02-13 100128217 ENSG00000225816 OTTHUMG00000152478 NG_022529 PGOHUM00000232598 HGNC:49748 +HGNC:49749 GTF3AP6 general transcription factor IIIA pseudogene 6 pseudogene pseudogene Approved 7q31.31 07q31.31 2014-02-13 2014-02-13 100135063 ENSG00000229982 OTTHUMG00000156949 NG_007340 PGOHUM00000232973 HGNC:49749 +HGNC:4664 GTF3C1 general transcription factor IIIC subunit 1 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 TFIIIC220 "general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )|general transcription factor IIIC, polypeptide 1, alpha 220kDa" General transcription factor IIIC complex subunits 1747 1993-09-29 2015-11-09 2016-10-06 2975 ENSG00000077235 OTTHUMG00000176805 uc002dov.3 U06485 NM_001520 "CCDS66988|CCDS32414" Q12789 "8164661|8127861" MGI:107887 RGD:621048 603246 HGNC:4664 "ENST00000356183.9|NM_001520.4" +HGNC:4665 GTF3C2 general transcription factor IIIC subunit 2 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "KIAA0011|TFIIIC110" "general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)|general transcription factor IIIC, polypeptide 2, beta 110kDa" "WD repeat domain containing|General transcription factor IIIC complex subunits" "362|1747" 1998-08-21 2015-11-09 2015-11-09 2976 ENSG00000115207 OTTHUMG00000097785 uc002rjw.2 D13636 NM_001035521 CCDS1749 Q8WUA4 7729686 MGI:1919002 RGD:1560392 604883 HGNC:4665 +HGNC:40269 GTF3C2-AS1 GTF3C2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 Antisense RNAs 1987 2014-04-30 2014-11-18 100505624 ENSG00000234945 OTTHUMG00000151913 NR_038427 GTF3C2-AS1 HGNC:40269 +HGNC:55699 GTF3C2-AS2 GTF3C2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 AC074117.10 Antisense RNAs 1987 2021-07-05 2021-07-05 2021-07-05 2021-12-03 105374363 ENSG00000234072 XR_007086253 +HGNC:4666 GTF3C3 general transcription factor IIIC subunit 3 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "TFiiiC2-102|TFIIIC102" "general transcription factor IIIC, polypeptide 3 (102kD)|general transcription factor IIIC, polypeptide 3, 102kDa" "Tetratricopeptide repeat domain containing|General transcription factor IIIC complex subunits" "769|1747" 1999-03-16 2015-11-09 2015-11-09 9330 ENSG00000119041 OTTHUMG00000154633 uc002uts.4 AF133123 NM_001206774 "CCDS2316|CCDS56153" Q9Y5Q9 10373544 MGI:2138383 RGD:1309185 604888 HGNC:4666 "ENST00000263956.8|NM_012086.5" +HGNC:4667 GTF3C4 general transcription factor IIIC subunit 4 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "TFIIIC90|KAT12" "general transcription factor IIIC, polypeptide 4 (90kD)|general transcription factor IIIC, polypeptide 4, 90kDa" "Lysine acetyltransferases|General transcription factor IIIC complex subunits" "486|1747" 1999-03-16 2015-11-09 2016-10-05 9329 ENSG00000125484 OTTHUMG00000020842 uc010mzv.4 AF142328 NM_012204 CCDS6953 Q9UKN8 10523658 MGI:2138937 RGD:1592609 604892 objectId:2656 HGNC:4667 "ENST00000372146.5|NM_012204.4" +HGNC:4668 GTF3C5 general transcription factor IIIC subunit 5 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "TFiiiC2-63|TFIIIC63|TFIIICepsilon" transcription factor IIIC, 63 kD "general transcription factor IIIC, polypeptide 5 (63kD)|general transcription factor IIIC, polypeptide 5, 63kDa" "MicroRNA protein coding host genes|General transcription factor IIIC complex subunits" "1691|1747" 1999-03-16 2015-11-09 2015-11-09 9328 ENSG00000148308 OTTHUMG00000020856 uc004cci.5 AF133124 NM_001122823 "CCDS75927|CCDS48050|CCDS6958" Q9Y5Q8 10373544 MGI:1917489 RGD:1305173 604890 HGNC:4668 "ENST00000372097.10|NM_012087.4" +HGNC:20872 GTF3C6 general transcription factor IIIC subunit 6 protein-coding gene gene with protein product Approved 6q21 06q21 "bA397G5.3|TFIIIC35" C6orf51 "chromosome 6 open reading frame 51|general transcription factor IIIC, polypeptide 6, alpha 35kDa" General transcription factor IIIC complex subunits 1747 2003-04-16 2007-07-26 2015-11-09 2015-11-09 112495 ENSG00000155115 OTTHUMG00000015370 uc003pum.4 AK057977 NM_138408 CCDS5087 Q969F1 17409385 MGI:1914621 RGD:1307434 611784 HGNC:20872 "ENST00000329970.8|NM_138408.4" +HGNC:55023 GTF3C6P1 GTF3C6 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-28 2020-05-28 100129001 ENSG00000215085 NG_022679 +HGNC:55024 GTF3C6P2 GTF3C6 pseudogene 2 pseudogene pseudogene Approved Xq22.3 Xq22.3 2020-05-28 2020-05-28 644563 ENSG00000213569 NG_022688 +HGNC:55025 GTF3C6P3 GTF3C6 pseudogene 3 pseudogene pseudogene Approved 7p14.3 07p14.3 2020-05-28 2020-05-28 646745 ENSG00000270196 NG_022554 +HGNC:4669 GTPBP1 GTP binding protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "GP-1|HSPC018" 1999-04-22 2015-09-11 9567 ENSG00000100226 OTTHUMG00000151002 uc003awg.4 U87964 NM_004286 CCDS13977 O00178 9070279 MGI:109443 RGD:1306758 602245 470420 HGNC:4669 "ENST00000216044.10|NM_004286.5" +HGNC:4670 GTPBP2 GTP binding protein 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 2000-07-31 2021-12-06 54676 ENSG00000172432 OTTHUMG00000014744 uc003ovs.5 AB024574 NM_001286216 "CCDS69124|CCDS4903" Q9BX10 "10833435|11054535" MGI:1860138 RGD:1306367 607434 HGNC:4670 "ENST00000307126.10|NM_019096.5" HGNC:4670 +HGNC:14880 GTPBP3 GTP binding protein 3, mitochondrial protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MSS1|THDF1|GTPBG3|MTGP1|FLJ14700" 2003-11-27 2017-08-08 2018-05-21 84705 ENSG00000130299 OTTHUMG00000182766 uc002ngg.5 AF360742 NM_032620 "CCDS59364|CCDS32951|CCDS56088|CCDS32950" Q969Y2 29390138 MGI:1917609 RGD:1305367 608536 448614 HGNC:14880 "ENST00000324894.13|NM_032620.4" HGNC:14880 +HGNC:21535 GTPBP4 GTP binding protein 4 protein-coding gene gene with protein product Approved 10p15.3 10p15.3 "CRFG|NGB|FLJ10690|FLJ10686|NOG1" "G protein-binding protein CRFG|GTP-binding protein" 2003-08-11 2022-03-08 23560 ENSG00000107937 OTTHUMG00000017538 uc001ift.4 AK001548 NM_012341 CCDS31132 Q9BZE4 11316846 MGI:1916487 RGD:620783 619169 470422 HGNC:21535 "ENST00000360803.9|NM_012341.3" +HGNC:30189 GTPBP6 GTP binding protein 6 (putative) protein-coding gene gene with protein product Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 "PGPL|FLJ20977" pseudoautosomal GTP binding protein-like Pseudoautosomal region 1 715 2004-08-16 2020-04-02 8225 ENSG00000178605 OTTHUMG00000022694 uc033fcx.2 Y14391 NM_012227 CCDS75943 O43824 9466997 MGI:1306825 RGD:1305954 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GTPBP6 300124 HGNC:30189 +HGNC:25007 GTPBP8 GTP binding protein 8 (putative) protein-coding gene gene with protein product Approved 3q13.2 03q13.2 HSPC135 GTP-binding protein 8 (putative) 2006-01-09 2016-04-04 2016-04-04 29083 ENSG00000163607 OTTHUMG00000159268 uc003dzn.4 BC037163 NM_014170 "CCDS33821|CCDS33820" Q8N3Z3 MGI:1913317 RGD:1310025 HGNC:25007 "ENST00000383678.8|NM_014170.4" +HGNC:25106 GTPBP10 GTP binding protein 10 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 "DKFZP686A10121|FLJ38242|OBGH2" GTP-binding protein 10 (putative) 2006-08-15 2016-05-04 2016-05-04 85865 ENSG00000105793 OTTHUMG00000023655 uc003ukm.3 NM_033107 "CCDS43614|CCDS5617" A4D1E9 17054726 MGI:2385599 RGD:1305878 610920 HGNC:25106 "ENST00000222511.11|NM_033107.4" +HGNC:18406 GTSCR1 Gilles de la Tourette syndrome chromosome region, candidate 1 non-coding RNA RNA, long non-coding Approved 18q22.2 18q22.2 Gilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2003-12-05 2017-01-19 2019-03-06 220158 ENSG00000263417 OTTHUMG00000178787 uc060pzy.1 AY262164 NR_160904 Q86UQ5 12682296 HGNC:18406 +HGNC:13698 GTSE1 G2 and S-phase expressed 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "GTSE-1|B99|Lnc_bc060912" G-2 and S-phase expressed 1 2001-06-25 2015-12-11 2021-07-20 51512 ENSG00000075218 OTTHUMG00000150486 uc011aqy.2 AF223408 NM_016426 CCDS14074 Q9NYZ3 "10974554|10984615|12750368" MGI:1352755 RGD:1563164 607477 HGNC:13698 "ENST00000454366.2|NM_016426.7" +HGNC:27163 GTSE1-DT GTSE1 divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 GTSE1-AS1 GTSE1 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-17 2018-03-22 2018-03-22 2018-03-22 150384 ENSG00000277232 OTTHUMG00000189497 BC015721 NR_024009 HGNC:27163 +HGNC:26565 GTSF1 gametocyte specific factor 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "FLJ32942|Cue110" FAM112B family with sequence similarity 112, member B 2006-02-09 2007-11-27 2007-11-27 2019-02-21 121355 ENSG00000170627 OTTHUMG00000169842 uc001sgb.4 AK098819 NM_144594 CCDS8881 Q8WW33 27646122 MGI:1921424 RGD:1310791 617484 HGNC:26565 "ENST00000305879.8|NM_144594.3" +HGNC:16198 GTSF1L gametocyte specific factor 1 like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ1028D15.4 "C20orf65|FAM112A" "chromosome 20 open reading frame 65|family with sequence similarity 112, member A" 2001-07-17 2007-11-27 2016-06-17 2020-04-17 149699 ENSG00000124196 OTTHUMG00000032510 uc002xld.4 AK058060 NM_176791 "CCDS13323|CCDS33471" Q9H1H1 26930067 MGI:1915486 RGD:1306224 HGNC:16198 "ENST00000373003.2|NM_176791.4" +HGNC:4678 GUCA1A guanylate cyclase activator 1A protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "GCAP|GCAP1|COD3|dJ139D8.6|CORD14" cone dystrophy 3 "GUCA|GUCA1|C6orf131" "chromosome 6 open reading frame 131|guanylate cyclase activator 1A (retina)" EF-hand domain containing 863 1992-04-08 2015-11-19 2015-11-19 2978 ENSG00000048545 OTTHUMG00000014696 uc003orx.4 NM_001384910 CCDS4864 P43080 9425234 MGI:102770 RGD:1308712 600364 122333 ligandId:9164 HGNC:4678 "ENST00000372958.2|NM_001384910.1" HGNC:4678 +HGNC:55126 GUCA1ANB GUCA1A neighbor protein-coding gene gene with protein product Approved 6p21.1 06p21.1 2020-07-02 2020-07-02 114841037 ENSG00000214732 NM_001370581 X6R8D5 "ENST00000623004.2|NM_001384994.1" +HGNC:4679 GUCA1B guanylate cyclase activator 1B protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "GCAP2|RP48" guanylate cyclase activator 1B (retina) EF-hand domain containing 863 1996-12-18 2015-11-19 2015-11-19 2979 ENSG00000112599 OTTHUMG00000014697 uc003orz.4 AF173227 NM_002098 CCDS4865 Q9UMX6 9119368 MGI:1194489 RGD:1308191 602275 201095 ligandId:9165 HGNC:4679 "ENST00000230361.4|NM_002098.6" HGNC:4679 +HGNC:4680 GUCA1C guanylate cyclase activator 1C protein-coding gene gene with protein product Approved 3q13.13 03q13.13 GCAP3 guanylyl cyclase-activating protein 3 EF-hand domain containing 863 1999-03-12 2016-10-05 9626 ENSG00000138472 OTTHUMG00000159204 uc003dxj.3 AF110002 NM_005459 "CCDS87118|CCDS2954" O95843 "10037746|11860507" 605128 HGNC:4680 "ENST00000261047.8|NM_005459.4" +HGNC:4682 GUCA2A guanylate cyclase activator 2A protein-coding gene gene with protein product Approved 1p34.2 01p34.2 STARA prepro-guanylin GUCA2 guanylate cyclase activator 2A (guanylin) Receptor ligands 542 1993-05-06 2015-11-19 2016-10-05 2980 ENSG00000197273 OTTHUMG00000007023 uc001chd.2 X74322 NM_033553 CCDS465 Q02747 "1327879|7892222" MGI:102738 RGD:2766 139392 470424 ligandId:4945 HGNC:4682 "ENST00000357001.3|NM_033553.3" +HGNC:4683 GUCA2B guanylate cyclase activator 2B protein-coding gene gene with protein product Approved 1p34.2 01p34.2 prepro-uroguanylin guanylate cyclase activator 2B (uroguanylin) Receptor ligands 542 1997-11-14 2015-11-19 2016-10-05 2981 ENSG00000044012 OTTHUMG00000007024 uc001chc.1 BC069301 NM_007102 CCDS464 Q16661 "8605041|9268639" MGI:1270851 RGD:620044 601271 ligandId:5084 HGNC:4683 "ENST00000372581.2|NM_007102.3" +HGNC:14237 GUCD1 guanylyl cyclase domain containing 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "MGC1842|LLN4" C22orf13 chromosome 22 open reading frame 13 2001-02-14 2012-11-13 2012-11-13 2019-02-21 83606 ENSG00000138867 OTTHUMG00000150728 uc003aah.4 AK054681 NM_031444 "CCDS63426|CCDS74831|CCDS33621|CCDS63427|CCDS74832|CCDS74833" Q96NT3 24743017 MGI:1916028 RGD:1597571 619171 HGNC:14237 "ENST00000435822.6|NM_001284254.2" +HGNC:4685 GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 GC-SA3 "GUC1A3|GUCY1A3" "guanylate cyclase 1, soluble, alpha 3|guanylate cyclase 1 soluble subunit alpha" Guanylate cyclases, soluble 820 1993-11-09 2017-11-24 2017-11-24 2021-05-26 2982 ENSG00000164116 OTTHUMG00000161700 uc003ioy.4 NM_000856 "CCDS54812|CCDS34085" Q02108 1352257 MGI:1926562 RGD:68436 139396 404138 objectId:1288 4.6.1.2 HGNC:4685 "ENST00000506455.6|NM_001130682.3" HGNC:4685 +HGNC:4684 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 GC-SA2 GUC1A2 guanylate cyclase 1, soluble, alpha 2 Guanylate cyclases, soluble 820 1993-11-09 2016-06-21 2016-06-21 2977 ENSG00000152402 OTTHUMG00000166296 uc001pjg.3 X63282 NM_001256424 "CCDS8335|CCDS58170" P33402 1683630 MGI:2660877 RGD:621655 601244 objectId:1289 4.6.1.2 HGNC:4684 "ENST00000526355.7|NM_000855.3" +HGNC:4687 GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "GC-SB3|GC-S-beta-1" "GUC1B3|GUCY1B3" "guanylate cyclase 1, soluble, beta 3|guanylate cyclase 1 soluble subunit beta" Guanylate cyclases, soluble 820 1993-11-09 2017-11-24 2017-11-24 2017-11-24 2983 ENSG00000061918 OTTHUMG00000161698 uc003ipc.4 AF020340 NM_000857 "CCDS47154|CCDS77978|CCDS77977|CCDS77976|CCDS77975|CCDS75203" Q02153 1352257 MGI:1860604 RGD:2769 139397 objectId:1290 4.6.1.2 HGNC:4687 "ENST00000264424.13|NM_000857.5" +HGNC:4686 GUCY1B2 guanylate cyclase 1 soluble subunit beta 2 (pseudogene) pseudogene pseudogene Approved 13q14.3 13q14.3 GC-SB2 "guanylate cyclase 1, soluble, beta 2|guanylate cyclase 1 solube subunit beta 2 (pseudogene)" Guanylate cyclases, soluble 820 1998-05-26 2016-06-21 2019-08-09 2974 ENSG00000123201 OTTHUMG00000016940 AF038499 NR_003923 O75343 "9889008|10449911" MGI:2660873 RGD:2770 603695 4.6.1.2 HGNC:4686 +HGNC:4688 GUCY2C guanylate cyclase 2C protein-coding gene gene with protein product Approved 12p12.3 12p12.3 STAR "STA receptor|heat stable enterotoxin receptor" GUC2C guanylate cyclase 2C (heat stable enterotoxin receptor) Guanylate cyclase receptors 343 1994-04-15 2014-12-18 2016-10-05 2984 ENSG00000070019 OTTHUMG00000168732 uc001rcd.4 NM_004963 CCDS8664 P25092 8661067 MGI:106903 RGD:2771 601330 317726 objectId:1750 HGNC:4688 "ENST00000261170.5|NM_004963.4" HGNC:4688 +HGNC:56054 GUCY2C-AS1 GUCY2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.3 12p12.3 Antisense RNAs 1987 2021-12-09 2021-12-09 123706531 ENSG00000214772 +HGNC:4689 GUCY2D guanylate cyclase 2D, retinal protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "retGC|RETGC-1|ROS-GC1|CYGD|LCA1" "rod outer segment membrane guanylate cyclase|retinal guanylate cyclase 1" "CORD6|LCA|GUC2D|GUC1A4" "cone rod dystrophy 6|guanylate cyclase 2D, membrane (retina-specific)" Guanylate cyclase receptors 343 1993-11-09 2016-03-30 2016-03-30 3000 ENSG00000132518 OTTHUMG00000108169 uc002gjt.3 L26921 NM_000180 CCDS11127 Q02846 "1356371|12552567" MGI:105123 RGD:620438 Mutations of the Retinal Guanylate Cyclase Gene and the Retinal Guanylate Cyclase-activating Protein Gene|http://www.retina-international.org/files/sci-news/gcmut.htm 600179 122340 objectId:2031 HGNC:4689 "ENST00000254854.5|NM_000180.4" HGNC:4689 +HGNC:4690 GUCY2EP guanylate cyclase 2E, pseudogene pseudogene pseudogene Approved 11q13.5 11q13.5 GC-E GUCY2E guanylate cyclase 2E Guanylate cyclase receptors 343 1997-12-05 2012-07-05 2012-07-05 2014-11-19 390226 ENSG00000204529 OTTHUMG00000165247 NR_024042 8838319 601138 PGOHUM00000257844 HGNC:4690 +HGNC:4691 GUCY2F guanylate cyclase 2F, retinal protein-coding gene gene with protein product Approved Xq22.3-q23 Xq22.3-q23 "GUC2DL|GC-F|RetGC-2|ROS-GC2|CYGF" guanylate cyclase 2D-like, membrane (retina-specific) Guanylate cyclase receptors 343 1997-12-05 2020-04-02 2986 ENSG00000101890 OTTHUMG00000022184 uc065aqx.1 L37378 NM_001522 CCDS14545 P51841 "8838319|7777544" MGI:105119 RGD:620439 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GUCY2F 300041 objectId:2899 HGNC:4691 "ENST00000218006.3|NM_001522.3" +HGNC:31863 GUCY2GP guanylate cyclase 2G, pseudogene pseudogene pseudogene Approved 10q25.2 10q25.2 GUCY2G guanylate cyclase 2G homolog (mouse), pseudogene Guanylate cyclase receptors 343 2007-03-21 2010-03-12 2012-12-07 2020-08-14 390003 ENSG00000243316 OTTHUMG00000019058 XM_497249 MGI:106025 HGNC:31863 +HGNC:25799 GUF1 GTP binding elongation factor GUF1 protein-coding gene gene with protein product Approved 4p12 04p12 FLJ13220 "GUF1 GTPase homolog (S. cerevisiae)|GUF1 homolog, GTPase" 2006-02-14 2020-10-08 2021-05-26 60558 ENSG00000151806 OTTHUMG00000128608 uc003gww.5 NM_021927 CCDS3468 Q8N442 "8553703|26486472" MGI:2140726 RGD:1310774 617064 461782 HGNC:25799 "ENST00000281543.6|NM_021927.3" HGNC:25799 +HGNC:4693 GUK1 guanylate kinase 1 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 2001-06-22 2016-10-05 2987 ENSG00000143774 OTTHUMG00000039503 uc021pke.2 BC006249 NM_000858 "CCDS53481|CCDS1568|CCDS55689" Q16774 8647247 MGI:95871 RGD:1309638 139270 2.7.4.8 HGNC:4693 "ENST00000312726.9|NM_000858.7" +HGNC:4694 GUK2 guanylate kinase 2 other unknown Approved 1q32.1-q42 01q32.1-q42 2001-06-22 2013-03-18 2988 "5036631|4377261" 139280 2.7.4.8 +HGNC:4695 GULOP gulonolactone (L-) oxidase, pseudogene pseudogene pseudogene Approved 8p21.1 08p21.1 "GULO|scurvy" 1991-08-13 2009-12-08 2020-08-14 2989 ENSG00000234770 OTTHUMG00000154895 D17460 NG_001136 "8175804|3214183" MGI:1353434 240400 HGNC:4695 +HGNC:18649 GULP1 GULP PTB domain containing engulfment adaptor 1 protein-coding gene gene with protein product Approved 2q32.1-q32.2 02q32.1-q32.2 "CED6|CED-6|GULP" GULP engulfment adaptor PTB domain containing 1 MicroRNA protein coding host genes 1691 2004-01-13 2018-08-15 2018-08-15 51454 ENSG00000144366 OTTHUMG00000132647 uc002uqf.4 AF191771 NM_016315 "CCDS58742|CCDS58743|CCDS2295" Q9UBP9 11729193 MGI:1920407 RGD:1306380 608165 HGNC:18649 "ENST00000409830.6|NM_016315.4" +HGNC:4696 GUSB glucuronidase beta protein-coding gene gene with protein product Approved 7q11.21 07q11.21 glucuronidase, beta Glycoside hydrolases 1650 2001-06-22 2016-03-14 2021-05-26 2990 ENSG00000169919 OTTHUMG00000023735 uc003tun.4 M15182 NM_000181 "CCDS64665|CCDS5530" P08236 3468507 MGI:95872 RGD:2772 611499 122352 3.2.1.31 HGNC:4696 "ENST00000304895.9|NM_000181.4" HGNC:4696 +HGNC:13670 GUSBP1 GUSB pseudogene 1 pseudogene pseudogene Approved 5p14.3 05p14.3 glucuronidase, beta pseudogene 1 2006-07-28 2019-01-21 2020-04-20 728411 ENSG00000183666 OTTHUMG00000162474 "BC064850|X75940" NG_008324 Q15486 8565635 HGNC:13670 +HGNC:18792 GUSBP2 GUSB pseudogene 2 pseudogene pseudogene Approved 6p22.2 06p22.2 "bA239L20.5|bA239L20.1|SMA3-L|bGLU-Lp|SMAC3L" "SMAC3L2|GUSBL1" "spinal muscular atrophy candidate gene 3-like 2|glucuronidase, beta-like 1|glucuronidase, beta pseudogene 2" 2003-11-26 2011-06-09 2019-01-21 2019-01-21 387036 ENSG00000241549 OTTHUMG00000014462 NR_003504 HGNC:18792 +HGNC:37301 GUSBP3 GUSB pseudogene 3 pseudogene pseudogene Approved 5q13.2 05q13.2 glucuronidase, beta pseudogene 3 2009-09-16 2019-01-21 2019-01-21 653188 ENSG00000253203 OTTHUMG00000162368 AK124130 NR_027386 HGNC:37301 +HGNC:18220 GUSBP4 GUSB pseudogene 4 pseudogene pseudogene Approved 6p11.2 06p11.2 "SMA3-L|FLJ13549" "C6orf216|SMAC3L|GUSBL2" "chromosome 6 open reading frame 216|spinal muscular atrophy candidate gene 3-like|glucuronidase, beta-like 2|glucuronidase, beta pseudogene 4" 2004-03-23 2010-10-27 2019-01-21 2019-01-21 375513 ENSG00000239650 OTTHUMG00000014924 NR_003660 PGOHUM00000261921 HGNC:18220 +HGNC:42319 GUSBP5 GUSB pseudogene 5 pseudogene pseudogene Approved 4q31.21 04q31.21 glucuronidase, beta pseudogene 5 2011-06-09 2019-01-21 2019-01-21 441046 ENSG00000236296 OTTHUMG00000150378 NR_003675 PGOHUM00000246093 HGNC:42319 +HGNC:42320 GUSBP6 GUSB pseudogene 6 pseudogene pseudogene Approved 7q11.21 07q11.21 glucuronidase, beta pseudogene 6 2011-06-09 2019-01-21 2019-01-21 653435 ENSG00000224458 OTTHUMG00000156481 NG_011656 PGOHUM00000233352 HGNC:42320 +HGNC:42321 GUSBP7 GUSB pseudogene 7 pseudogene pseudogene Approved 5q21.1 05q21.1 glucuronidase, beta pseudogene 7 2011-06-09 2019-01-21 2020-05-13 100132456 ENSG00000274455 NG_011665 PGOHUM00000235339 HGNC:42321 +HGNC:42322 GUSBP8 GUSB pseudogene 8 pseudogene pseudogene Approved 5q21.1 05q21.1 glucuronidase, beta pseudogene 8 2011-06-09 2019-01-21 2019-01-21 441066 ENSG00000227762 OTTHUMG00000162761 NG_011668 PGOHUM00000251387 HGNC:42322 +HGNC:42323 GUSBP9 GUSB pseudogene 9 pseudogene pseudogene Approved 5q13.2 05q13.2 glucuronidase, beta pseudogene 9 2011-06-09 2019-01-21 2020-06-30 118126072 ENSG00000215630 OTTHUMG00000164583 NG_070174 PGOHUM00000306591 HGNC:42323 +HGNC:42324 GUSBP10 GUSB pseudogene 10 pseudogene pseudogene Approved 7p11.2 07p11.2 glucuronidase, beta pseudogene 10 2011-06-09 2019-01-21 2019-01-21 642006 ENSG00000224723 OTTHUMG00000156683 NR_030766 PGOHUM00000232759 HGNC:42324 +HGNC:42325 GUSBP11 GUSB pseudogene 11 pseudogene pseudogene Approved 22q11.23 22q11.23 glucuronidase, beta pseudogene 11 2011-06-09 2019-01-21 2021-08-17 91316 ENSG00000228315 OTTHUMG00000150709 uc002zxh.5 NR_024448 Q6P575 PGOHUM00000250322 HGNC:42325 +HGNC:42326 GUSBP12 GUSB pseudogene 12 pseudogene pseudogene Approved 7p11.2 07p11.2 glucuronidase, beta pseudogene 12 2011-06-09 2019-01-21 2019-01-21 642007 ENSG00000169325 OTTHUMG00000156685 NG_011667 PGOHUM00000250869 HGNC:42326 +HGNC:54495 GUSBP13 GUSB pseudogene 13 pseudogene pseudogene Approved 5q13.2 05q13.2 2019-08-28 2020-04-06 100287046 ENSG00000198237 NG_011664 PGOHUM00000306595 HGNC:54495 +HGNC:54496 GUSBP14 GUSB pseudogene 14 pseudogene pseudogene Approved 5q13.2 05q13.2 "SMA4|SMA3" 2019-08-28 2020-05-13 11039 ENSG00000253816 NR_024054 7977382 HGNC:54496 +HGNC:54497 GUSBP15 GUSB pseudogene 15 pseudogene pseudogene Approved 5q13.2 05q13.2 SMA5 2019-08-28 2020-05-13 11042 ENSG00000196302 NR_034021 7977382 HGNC:54497 +HGNC:54498 GUSBP16 GUSB pseudogene 16 pseudogene pseudogene Approved 5q13.2 05q13.2 2019-08-28 2019-08-28 653080 ENSG00000253366 OTTHUMG00000162420 NR_146391 HGNC:54498 +HGNC:54970 GUSBP17 GUSB pseudogene 17 pseudogene pseudogene Approved 5q13.2 05q13.2 2020-05-13 2020-05-27 100049076 ENSG00000235558 NR_033968 PGOHUM00000306592 +HGNC:55770 GUSBP18 GUSB pseudogene 18 pseudogene pseudogene Approved 5p13.2 05p13.2 2021-07-22 2021-07-22 643373 ENSG00000215158 NG_011663 PGOHUM00000306585 +HGNC:55771 GUSBP19 GUSB pseudogene 19 pseudogene pseudogene Approved 5q21.1 05q21.1 2021-07-22 2021-07-22 100133050 ENSG00000275374 NR_027503 PGOHUM00000306593 +HGNC:25813 GVINP1 GTPase, very large interferon inducible pseudogene 1 pseudogene pseudogene Approved 11p15.4 11p15.4 "VLIG-1|FLJ13373|VLIG1" very large inducible GTPase 1 "GVIN1|GVIN1P" "GTPase, very large interferon inducible 1|GTPase, very large interferon inducible 1, pseudogene" 2005-02-16 2010-09-28 2010-09-28 2014-03-18 387751 ENSG00000254838 OTTHUMG00000165506 BX538318 NR_003945 Q7Z2Y8 "12874213|19369598" MGI:3782245 RGD:1598220 616121 PGOHUM00000242161 HGNC:25813 +HGNC:38876 GVINP2 GTPase, very large interferon inducible pseudogene 2 pseudogene pseudogene Approved 11p15.4 11p15.4 2010-10-21 2017-10-25 100128135 ENSG00000254781 OTTHUMG00000165734 XR_078437 19369598 HGNC:38876 +HGNC:51239 GVQW3 GVQW motif containing 3 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 2017-10-18 2017-10-18 100506127 ENSG00000179240 OTTHUMG00000165281 NM_001282456 "CCDS86231|CCDS81599|CCDS73348" Q3ZCU0 RGD:11455558 HGNC:51239 "ENST00000529331.2|NM_001347885.2" +HGNC:27482 GXYLT1 glucoside xylosyltransferase 1 protein-coding gene gene with protein product Approved 12q12 12q12 FLJ43151 GLT8D3 glycosyltransferase 8 domain containing 3 Glycosyltransferase family 8 436 2006-01-24 2009-11-17 2009-11-17 2018-11-16 283464 ENSG00000151233 OTTHUMG00000169379 uc001rms.5 BC015597 NM_173601 "CCDS41772|CCDS41771" Q4G148 19940119 MGI:2684933 RGD:1563062 613321 2.4.2.n2 HGNC:27482 "ENST00000398675.8|NM_173601.2" +HGNC:39676 GXYLT1P1 GXYLT1 pseudogene 1 pseudogene pseudogene Approved 13q11 13q11 glucoside xylosyltransferase 1 pseudogene 1 2011-03-22 2019-12-19 2019-12-19 100101111 ENSG00000230931 OTTHUMG00000016459 NG_006142 PGOHUM00000248288 HGNC:39676 +HGNC:39677 GXYLT1P2 GXYLT1 pseudogene 2 pseudogene pseudogene Approved 21q11.2 21q11.2 glucoside xylosyltransferase 1 pseudogene 2 2011-03-22 2019-12-19 2019-12-19 441958 ENSG00000224860 OTTHUMG00000074230 NG_006139 PGOHUM00000239025 HGNC:39677 +HGNC:50422 GXYLT1P3 GXYLT1 pseudogene 3 pseudogene pseudogene Approved 9p11.2 09p11.2 glucoside xylosyltransferase 1 pseudogene 3 2014-04-25 2019-12-19 2019-12-19 100132541 ENSG00000232433 OTTHUMG00000067497 NG_021650 PGOHUM00000304200 HGNC:50422 +HGNC:50423 GXYLT1P4 GXYLT1 pseudogene 4 pseudogene pseudogene Approved 9q21.11 09q21.11 glucoside xylosyltransferase 1 pseudogene 4 2014-04-25 2019-12-19 2019-12-19 100132441 ENSG00000275026 OTTHUMG00000188312 NG_021615 PGOHUM00000303906 HGNC:50423 +HGNC:50424 GXYLT1P5 GXYLT1 pseudogene 5 pseudogene pseudogene Approved 9p11.1 09p11.1 glucoside xylosyltransferase 1 pseudogene 5 2014-04-25 2019-12-19 2019-12-19 100131760 ENSG00000276591 OTTHUMG00000188571 NG_021619 PGOHUM00000304231 HGNC:50424 +HGNC:50425 GXYLT1P6 GXYLT1 pseudogene 6 pseudogene pseudogene Approved 9q13 09q13 glucoside xylosyltransferase 1 pseudogene 6 2014-04-25 2019-12-19 2019-12-19 100132672 ENSG00000235310 OTTHUMG00000013327 NG_021660 PGOHUM00000236617 HGNC:50425 +HGNC:54735 GXYLT1P7 GXYLT1 pseudogene 7 pseudogene pseudogene Approved 2q11.1 02q11.1 2019-12-19 2019-12-19 100130488 ENSG00000227265 NG_021514 +HGNC:33383 GXYLT2 glucoside xylosyltransferase 2 protein-coding gene gene with protein product Approved 3p13 03p13 GLT8D4 glycosyltransferase 8 domain containing 4 Glycosyltransferase family 8 436 2007-04-12 2009-11-17 2009-11-17 2015-08-25 727936 ENSG00000172986 OTTHUMG00000158815 uc003dpg.4 AC098481 NM_001080393 CCDS46870 A0PJZ3 19940119 MGI:2682940 RGD:1586482 613322 HGNC:33383 "ENST00000389617.9|NM_001080393.2" +HGNC:4699 GYG1 glycogenin 1 protein-coding gene gene with protein product Approved 3q24 03q24 glycogenin glucosyltransferase GYG glycogenin Glycosyltransferase family 8 436 1997-07-22 2005-11-04 2005-11-04 2021-05-26 2992 ENSG00000163754 OTTHUMG00000159533 uc003ewo.4 AF087942 NM_004130 "CCDS54654|CCDS54655|CCDS3139" P46976 8602861 MGI:1351614 RGD:621785 603942 269704 2.4.1.186 HGNC:4699 "ENST00000345003.9|NM_004130.4" HGNC:4699 +HGNC:39712 GYG1P1 glycogenin 1 pseudogene 1 pseudogene pseudogene Approved 8q21.11 08q21.11 2011-03-23 2011-03-23 100132965 ENSG00000251633 OTTHUMG00000160472 NG_021230 PGOHUM00000249391 HGNC:39712 +HGNC:39710 GYG1P2 glycogenin 1 pseudogene 2 pseudogene pseudogene Approved 13q31.1 13q31.1 2011-03-23 2014-11-19 647317 ENSG00000237099 OTTHUMG00000017148 NG_021231 PGOHUM00000248649 HGNC:39710 +HGNC:39711 GYG1P3 glycogenin 1 pseudogene 3 pseudogene pseudogene Approved 1p32.3 01p32.3 2011-03-23 2014-11-19 645506 ENSG00000231095 OTTHUMG00000008215 NG_021229 PGOHUM00000244731 HGNC:39711 +HGNC:4700 GYG2 glycogenin 2 protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 GN-2 glycogenin glucosyltransferase Glycosyltransferase family 8 436 1999-01-12 2020-04-02 8908 ENSG00000056998 OTTHUMG00000021079 uc004cqs.2 U94361 NM_003918 "CCDS48074|CCDS55365|CCDS14121" O15488 9857012 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/GYG2 300198 2.4.1.186 HGNC:4700 "ENST00000398806.8|NM_001079855.2" +HGNC:40270 GYG2-AS1 GYG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.33 Xp22.33 GYG2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873938 ENSG00000235483 OTTHUMG00000021074 uc064xvg.1 GYG2-AS1 +HGNC:4701 GYG2P1 glycogenin 2 pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 GYG2P glycogenin 2 pseudogene 1999-05-17 2010-03-19 2010-03-19 2010-07-02 352887 ENSG00000206159 OTTHUMG00000036382 NG_002811 10542153 HGNC:4701 +HGNC:39713 GYG2P2 glycogenin 2 pseudogene 2 pseudogene pseudogene Approved 1q32.1 01q32.1 2011-03-23 2011-03-23 100418892 NG_027191 PGOHUM00000256886 HGNC:39713 +HGNC:4702 GYPA glycophorin A (MNS blood group) protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "GPA|MN|CD235a" glycophorinA MNS "glycophorin A (includes MN blood group)|glycophorin A (MN blood group)" "Blood group antigens|CD molecules" "454|471" 2001-06-22 2006-02-23 2021-11-12 2993 ENSG00000170180 OTTHUMG00000161403 uc003ijo.5 M36281 NM_002099 "CCDS34069|CCDS82959|CCDS77965" P02724 3456608 MGI:95880 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home|LRG_793|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_793.xml" 617922 470426 CD235a HGNC:4702 "ENST00000641688.3|NM_002099.8" +HGNC:4703 GYPB glycophorin B (MNS blood group) protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "GPB|SS|CD235b" MNS "glycophorin B (includes Ss blood group)|glycophorin B (Ss blood group)" "Blood group antigens|CD molecules" "454|471" 1988-08-31 2006-02-23 2021-04-13 2994 ENSG00000250361 OTTHUMG00000161404 uc003ijm.2 NM_002100 "CCDS54809|CCDS87264" P06028 MGI:95880 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_794|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_794.xml" 617923 CD235b HGNC:4703 "ENST00000502664.6|NM_002100.6" +HGNC:4704 GYPC glycophorin C (Gerbich blood group) protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "GPC|GYPD|Ge|CD236|CD236R" "Blood group antigens|CD molecules" "454|471" 2001-06-22 2021-04-13 2995 ENSG00000136732 OTTHUMG00000131464 uc002tnq.5 NM_002101 "CCDS46402|CCDS58724|CCDS2136" P04921 MGI:1098566 RGD:1310295 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_813|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_813.xml" 110750 398416 CD236R HGNC:4704 "ENST00000259254.9|NM_002101.5" HGNC:4704 +HGNC:4705 GYPE glycophorin E (MNS blood group) protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "GPE|MNS" glycophorin E Blood group antigens 454 1990-09-10 2010-01-19 2021-05-26 2996 ENSG00000197465 OTTHUMG00000161402 uc003ijj.4 NM_002102 CCDS47138 P15421 MGI:95880 Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home 138590 HGNC:4705 "ENST00000358615.9|NM_198682.3" +HGNC:4706 GYS1 glycogen synthase 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 GSY GYS glycogen synthase 1 (muscle) Glycosyl transferases group 1 domain containing 427 1992-08-25 2015-12-04 2021-05-26 2997 ENSG00000104812 OTTHUMG00000150723 uc002plp.4 NM_002103 "CCDS12747|CCDS54292" P13807 MGI:101805 RGD:1589798 138570 160283 2.4.1.11 HGNC:4706 "ENST00000323798.8|NM_002103.5" HGNC:4706 +HGNC:4707 GYS2 glycogen synthase 2 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 glycogen synthase 2 (liver) Glycosyl transferases group 1 domain containing 427 1993-09-24 2015-12-04 2021-05-26 2998 ENSG00000111713 OTTHUMG00000169135 uc001rfb.3 NM_021957 CCDS8690 P54840 MGI:2385254 RGD:2773 LRG_1293|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1293.xml 138571 122354 2.4.1.11 HGNC:4707 "ENST00000261195.3|NM_021957.4" HGNC:4707 +HGNC:15808 GZF1 GDNF inducible zinc finger protein 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ322G13.2|ZBTB23" ZNF336 zinc finger protein 336 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2001-09-17 2006-09-19 2016-02-12 2021-05-26 64412 ENSG00000125812 OTTHUMG00000032069 uc002wsy.4 AK025447 NM_022482 CCDS13151 Q9H116 "14522971|16049025" MGI:1921783 RGD:1562321 613842 HGNC:15808 "ENST00000338121.10|NM_022482.5" HGNC:15808 +HGNC:4708 GZMA granzyme A protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "CTL tryptase|Cytotoxic T-lymphocyte-associated serine esterase-3|Hanukah factor serine protease)|granzyme 1" "HFSP|CTLA3" granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) Granule associated serine proteases of immune defence 1636 1988-05-31 2015-11-16 2016-10-05 3001 ENSG00000145649 OTTHUMG00000097011 uc003jpm.4 NM_006144 CCDS3965 P12544 "3262682|3533635" MGI:109266 RGD:628640 140050 S01.135 objectId:2368 HGNC:4708 "ENST00000274306.7|NM_006144.4" +HGNC:44137 GZMAP1 granzyme A pseudogene 1 pseudogene pseudogene Approved 5q11.2 05q11.2 granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) pseudogene 1 2012-06-29 2015-11-16 2015-11-16 106479035 ENSG00000249454 OTTHUMG00000162199 NG_044381 PGOHUM00000235592 HGNC:44137 +HGNC:4709 GZMB granzyme B protein-coding gene gene with protein product Approved 14q12 14q12 "CCPI|CGL-1|CSP-B|CGL1|CTSGL1|HLP|SECT" "fragmentin 2|cytotoxic serine protease B|cathepsin G-like 1|T-cell serine protease 1-3E|granzyme 2|cytotoxic T-lymphocyte-associated serine esterase 1" "CTLA1|CSPB" granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) Granule associated serine proteases of immune defence 1636 1989-05-12 2015-11-16 2016-10-05 3002 ENSG00000100453 OTTHUMG00000029369 uc001wps.4 BC030195 NM_004131 "CCDS86381|CCDS9633" P10144 2323780 MGI:109265 RGD:620018 123910 S01.010 objectId:2369 HGNC:4709 "ENST00000216341.9|NM_004131.6" +HGNC:4710 GZMH granzyme H protein-coding gene gene with protein product Approved 14q12 14q12 "CGL-2|CCP-X|CTLA1|CSP-C" cathepsin G-like 2, protein h-CCPX CTSGL2 granzyme H (cathepsin G-like 2, protein h-CCPX) Granule associated serine proteases of immune defence 1636 1990-04-09 2015-11-16 2016-10-05 2999 ENSG00000100450 OTTHUMG00000140185 uc001wpr.3 M72150 NM_033423 "CCDS9632|CCDS59243" P20718 2049336 MGI:109267 RGD:1597224 116831 S01.147 HGNC:4710 "ENST00000216338.9|NM_033423.5" +HGNC:4711 GZMK granzyme K protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "TRYP2|PRSS" tryptase II "granzyme K (serine protease, granzyme 3; tryptase II)|granzyme K (granzyme 3; tryptase II)" Granule associated serine proteases of immune defence 1636 1995-08-31 2015-11-16 2015-11-16 3003 ENSG00000113088 OTTHUMG00000097009 uc003jpl.2 BC035802 NM_002104 CCDS3964 P49863 7758581 MGI:1298232 RGD:68401 600784 S01.146 objectId:2370 HGNC:4711 "ENST00000231009.3|NM_002104.3" +HGNC:4712 GZMM granzyme M protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MET1|LMET1" lymphocyte met-ase 1 granzyme M (lymphocyte met-ase 1) Granule associated serine proteases of immune defence 1636 1994-10-12 2015-11-16 2019-08-21 3004 ENSG00000197540 OTTHUMG00000180559 uc002low.4 NM_005317 "CCDS12031|CCDS74240" P51124 8119738 MGI:99549 RGD:620022 600311 S01.139 HGNC:4712 "ENST00000264553.6|NM_005317.4" +HGNC:4714 H1-0 H1.0 linker histone protein-coding gene gene with protein product Approved 22q13.1 22q13.1 H1.0 H1.0, H1(0), H1-0 "H1FV|H1F0" "H1 histone family, member 0|H1 histone family member 0" H1 histones 1935 1988-07-20 2019-07-22 2019-07-22 2019-08-21 3005 ENSG00000189060 OTTHUMG00000150659 uc003aty.4 X03473 NM_005318 CCDS13956 P07305 3084796 MGI:95893 RGD:2777 142708 HGNC:4714 "ENST00000340857.4|NM_005318.4" +HGNC:4715 H1-1 H1.1 linker histone, cluster member protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H1.1|H1a" "H1F1|HIST1H1A" "H1 histone family, member 1|histone 1, H1a|histone cluster 1, H1a|histone cluster 1 H1 family member a" H1 histones 1935 1997-08-29 2019-07-22 2019-07-22 2019-07-22 3024 ENSG00000124610 OTTHUMG00000016413 uc003nfo.4 AF531299 NM_005325 CCDS4569 Q02539 "2759094|12408966" MGI:1931523 RGD:1305706 142709 HGNC:4715 "ENST00000244573.5|NM_005325.4" +HGNC:4716 H1-2 H1.2 linker histone, cluster member protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H1.2|H1s-1|H1c" "H1F2|HIST1H1C" "H1 histone family, member 2|histone 1, H1c|histone cluster 1, H1c|histone cluster 1 H1 family member c" H1 histones 1935 2001-06-22 2019-07-23 2019-07-23 2019-07-23 3006 ENSG00000187837 OTTHUMG00000016140 uc003nfw.4 X57129 NM_005319 CCDS4577 P16403 "2759094|12408966" MGI:1931526 RGD:1587893 142710 HGNC:4716 "ENST00000343677.4|NM_005319.4" +HGNC:4717 H1-3 H1.3 linker histone, cluster member protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H1.3|H1d|H1s-2" "H1F3|HIST1H1D" "H1 histone family, member 3|histone 1, H1d|histone cluster 1, H1d|histone cluster 1 H1 family member d" H1 histones 1935 2001-06-22 2019-07-23 2019-07-23 2019-07-23 3007 ENSG00000124575 OTTHUMG00000014432 uc003nhd.4 M60747 NM_005320 CCDS4597 P16402 "1916825|12408966" MGI:107502 RGD:1585568 142210 HGNC:4717 "ENST00000244534.7|NM_005320.3" +HGNC:4718 H1-4 H1.4 linker histone, cluster member protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H1.4|H1e|H1s-4" "H1F4|HIST1H1E" "H1 histone family, member 4|histone 1, H1e|histone cluster 1, H1e|histone cluster 1 H1 family member e" H1 histones 1935 1988-08-31 2019-07-23 2019-07-23 2021-05-26 3008 ENSG00000168298 OTTHUMG00000014422 uc003ngq.5 M60748 NM_005321 CCDS4586 P10412 "1916825|12408966" MGI:1931527 RGD:2776 142220 HGNC:4718 "ENST00000304218.6|NM_005321.3" +HGNC:4719 H1-5 H1.5 linker histone, cluster member protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H1b|H1s-3" "H1F5|HIST1H1B" "H1 histone family, member 5|histone 1, H1b|histone cluster 1, H1b|histone cluster 1 H1 family member b" H1 histones 1935 1997-08-29 2019-07-23 2019-07-23 2019-07-23 3009 ENSG00000184357 OTTHUMG00000016139 uc003njx.4 AF531304 NM_005322 CCDS4635 P16401 "9031620|9119399|12408966" MGI:1861461 RGD:1590638 142711 HGNC:4719 "ENST00000331442.5|NM_005322.3" +HGNC:4720 H1-6 H1.6 linker histone, cluster member protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H1t "H1FT|HIST1H1T" "H1 histone family, member T (testis-specific)|histone 1, H1t|histone cluster 1, H1t|histone cluster 1 H1 family member t" H1 histones 1935 1997-08-29 2019-07-23 2019-07-23 2019-07-23 3010 ENSG00000187475 OTTHUMG00000014430 uc003ngj.4 M60094 NM_005323 CCDS34349 P22492 "8175896|12408966" MGI:1888530 RGD:2778 142712 HGNC:4720 "ENST00000338379.6|NM_005323.4" +HGNC:24893 H1-7 H1.7 linker histone protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "HANP1|H1T2" H1FNT "H1 histone family, member N, testis-specific|H1 histone family member N, testis specific" H1 histones 1935 2006-02-28 2019-07-23 2019-07-23 2019-08-19 341567 ENSG00000187166 OTTHUMG00000169904 uc001rrm.3 AY302593 NM_181788 CCDS8762 Q75WM6 15710904 MGI:1917319 RGD:1560024 618565 HGNC:24893 "ENST00000335017.1|NM_181788.1" +HGNC:18463 H1-8 H1.8 linker histone protein-coding gene gene with protein product Approved 3q22.1 03q22.1 H1FOO "H1 histone family, member O, oocyte-specific|H1 histone family member O oocyte specific" H1 histones 1935 2003-05-23 2019-07-23 2019-07-23 2019-07-23 132243 ENSG00000178804 OTTHUMG00000159541 uc003emu.3 AY158091 NM_153833 "CCDS3064|CCDS77815" Q8IZA3 12408966 MGI:2176207 RGD:1566236 HGNC:18463 "ENST00000324382.7|NM_153833.3" +HGNC:30616 H1-9P H1.9 linker histone, pseudogene pseudogene pseudogene Approved 17q21.33 17q21.33 H1.9 "HILS1|H1-9" "histone linker H1 domain, spermatid-specific 1|histone linker H1 domain, spermatid-specific 1 (pseudogene)|H1.9 linker histone (pseudogene)" H1 histones 1935 2005-12-16 2019-09-19 2019-09-19 2021-10-04 373861 ENSG00000188662 OTTHUMG00000162025 AY286318 NR_024193 P60008 "12920187|30068355" MGI:2136691 RGD:1585185 608101 HGNC:30616 +HGNC:4722 H1-10 H1.10 linker histone protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "MGC15959|MGC8350|H1X" H1FX "H1 histone family, member X|H1 histone family member X" H1 histones 1935 1999-06-11 2019-07-22 2019-07-22 2019-07-22 8971 ENSG00000184897 OTTHUMG00000159450 uc003elx.3 D64142 NM_006026 CCDS3057 Q92522 "8964515|9439656" MGI:2685307 RGD:1565596 602785 HGNC:4722 "ENST00000333762.6|NM_006026.4" +HGNC:27953 H1-10-AS1 H1-10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 FLJ34151 "C3orf47|H1FX-AS1" "chromosome 3 open reading frame 47|H1FX antisense RNA 1 (non-protein coding)|H1FX antisense RNA 1" Antisense RNAs 1987 2006-01-16 2020-02-14 2020-02-14 2020-02-14 339942 ENSG00000206417 OTTHUMG00000159459 uc062nqu.1 AK091470 NR_026991 Q4G0G2 14702039 H1FX-AS1 HGNC:27953 +HGNC:19163 H1-12P H1.12 linker histone, cluster member, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 "dJ34B20.16|FLJ39701|H1F6P" HIST1H1PS1 "histone 1, H1, pseudogene 1|histone cluster 1 H1 pseudogene 1" H1 histones 1935 2003-12-09 2019-07-23 2021-11-01 2021-11-01 387325 ENSG00000216331 OTTHUMG00000014431 NG_029660 HGNC:19163 +HGNC:22516 H2AB1 H2A.B variant histone 1 protein-coding gene gene with protein product Approved Xq28 Xq28 H2A.B.2 H2AFB1 "H2A histone family, member B1|H2A histone family member B1" H2A histones 1936 2004-10-29 2019-07-23 2019-07-23 2022-03-02 474382 ENSG00000274183 OTTHUMG00000034291 uc004fmu.5 NM_001017990 CCDS35458 P0C5Y9 "29549088|34350706|33073403" "MGI:3642445|MGI:3644875|MGI:3644980" 301037 HGNC:22516 "ENST00000620016.2|NM_001017990.2" +HGNC:18298 H2AB2 H2A.B variant histone 2 protein-coding gene gene with protein product Approved Xq28 Xq28 H2A.B.1 H2AFB2 "H2A histone family, member B2|H2A histone family member B2" H2A histones 1936 2004-10-29 2019-07-23 2019-07-23 2022-03-02 474381 ENSG00000277858 OTTHUMG00000034292 uc004fnh.5 NM_001017991 CCDS35461 P0C5Z0 "29549088|33073403" "MGI:3642445|MGI:3644875|MGI:3644980" RGD:1561666 301038 HGNC:18298 "ENST00000354514.6|NM_001017991.3" +HGNC:14455 H2AB3 H2A.B variant histone 3 protein-coding gene gene with protein product Approved Xq28 Xq28 H2A.B.1 "H2AFB|H2AFB3" "H2A histone family, member B|H2A histone family, member B3|H2A histone family member B3" H2A histones 1936 2001-04-27 2019-07-23 2019-07-23 2022-03-02 83740 ENSG00000277745 OTTHUMG00000022670 uc004fnk.5 AF254576 NM_080720 CCDS35464 P0C5Z0 "29549088|33073403" 300445 HGNC:14455 "ENST00000615853.1|NM_080720.3" +HGNC:18729 H2AC1 H2A clustered histone 1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "bA317E16.2|H2AFR" HIST1H2AA "H2A histone family, member R|histone 1, H2aa|histone cluster 1, H2aa|histone cluster 1 H2A family member a" H2A histones 1936 2003-02-07 2019-07-23 2019-07-23 2019-07-23 221613 ENSG00000164508 OTTHUMG00000014407 uc003nfc.4 AY131982 NM_170745 CCDS4562 Q96QV6 12408966 MGI:2448285 RGD:3854 613499 HGNC:18729 "ENST00000297012.5|NM_170745.3" +HGNC:18720 H2AC2P H2A clustered histone 2, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 "bA317E16.5|H2AFSP" HIST1H2APS1 "histone 1, H2a, pseudogene 1|histone cluster 1, H2a, pseudogene 1|histone cluster 1 H2A pseudogene 1" H2A histones 1936 2003-12-09 2019-07-23 2019-07-23 2019-11-27 387319 ENSG00000216436 OTTHUMG00000014405 NR_045125 PGOHUM00000301687 HGNC:18720 +HGNC:18804 H2AC3P H2A clustered histone 3, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 "dJ139G21.2|H2A/T" "H2AFTP|HIST1H2APS2" "H2A histone family, member T, pseudogene|histone 1, H2a, pseudogene 2|histone cluster 1, H2a, pseudogene 2|histone cluster 1 H2A pseudogene 2" H2A histones 1936 2003-03-11 2019-07-23 2019-07-23 2019-07-23 85303 ENSG00000242387 OTTHUMG00000187599 AF098457 NG_002685 HGNC:18804 +HGNC:4734 H2AC4 H2A clustered histone 4 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H2A/m "H2AFM|HIST1H2AB" "H2A histone family, member M|histone 1, H2ab|histone cluster 1, H2ab|histone cluster 1 H2A family member b" H2A histones 1936 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8335 ENSG00000278463 OTTHUMG00000014420 uc003nft.2 X00089 NM_003513 CCDS4574 P04908 "9439656|9119399|12408966" "MGI:2448287|MGI:2448289|MGI:2448295|MGI:2448297|MGI:2448300|MGI:2448309|MGI:2448457" RGD:1589461 602795 HGNC:4734 "ENST00000615868.2|NM_003513.3" +HGNC:4728 H2AC5P H2A clustered histone 5, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 pH2A/f "H2AFFP|HIST1H2APS5" "H2A histone family, member F, pseudogene|histone 1, H2a, pseudogene 5|histone cluster 1, H2a, pseudogene 5|histone cluster 1 H2A pseudogene 5" H2A histones 1936 1998-10-05 2019-07-23 2019-07-23 2019-11-27 10341 ENSG00000234816 OTTHUMG00000037055 X57131 NG_029344 8227173 PGOHUM00000301689 HGNC:4728 +HGNC:4733 H2AC6 H2A clustered histone 6 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H2AFL|HIST1H2AC" "H2A histone family, member L|histone 1, H2ac|histone cluster 1, H2ac|histone cluster 1 H2A family member c" H2A histones 1936 1998-09-07 2019-07-23 2019-07-23 2019-07-23 8334 ENSG00000180573 OTTHUMG00000014428 uc003ngm.4 Z80778 NM_003512 CCDS4585 Q93077 "9119399|12408966" MGI:3606192 RGD:9087157 602794 HGNC:4733 "ENST00000377791.4|NM_003512.4" +HGNC:4729 H2AC7 H2A clustered histone 7 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H2A/g|H2A.3" "H2AFG|HIST1H2AD" "H2A histone family, member G|histone 1, H2ad|histone cluster 1, H2ad|histone cluster 1 H2A family member d" H2A histones 1936 1997-08-29 2019-07-23 2019-07-23 2019-07-23 3013 ENSG00000196866 OTTHUMG00000014437 uc003ngw.5 Z80776 NM_021065 CCDS4591 P20671 "9119399|12408966" 602792 HGNC:4729 "ENST00000341023.2|NM_021065.3" +HGNC:4724 H2AC8 H2A clustered histone 8 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H2A/a|H2A.1" "H2AFA|HIST1H2AE" "H2A histone family, member A|histone 1, H2ae|histone cluster 1, H2ae|histone cluster 1 H2A family member e" H2A histones 1936 1997-08-29 2019-07-23 2019-07-23 2019-07-23 3012 ENSG00000277075 OTTHUMG00000014440 uc003nha.3 M60752 NM_021052 CCDS4595 P04908 "9119399|1916825|12408966" RGD:1564767 602786 HGNC:4724 +HGNC:18805 H2AC9P H2A clustered histone 9, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 "dJ34B20.8|H2AFUP" HIST1H2APS3 "histone 1, H2a, pseudogene 3|histone cluster 1, H2a, pseudogene 3|histone cluster 1 H2A pseudogene 3" H2A histones 1936 2003-12-09 2019-07-23 2019-07-23 2019-11-27 387323 ENSG00000218281 OTTHUMG00000014439 NG_029661 HGNC:18805 +HGNC:4732 H2AC10P H2A clustered histone 10, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 "pH2A/k|dJ34B20.2" "H2AFK|H2AFKP|HIST1H2APS4" "H2A histone family, member K, pseudogene|histone 1, H2a, pseudogene 4|histone cluster 1, H2a, pseudogene 4|histone cluster 1 H2A pseudogene 4" H2A histones 1936 1998-08-27 2019-07-23 2019-07-23 2019-11-27 8333 ENSG00000218690 OTTHUMG00000014438 Z80777 NG_000876 9119399 PGOHUM00000301272 HGNC:4732 +HGNC:4737 H2AC11 H2A clustered histone 11 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "pH2A/f|H2A/p|H2A.1b" "H2AFP|HIST1H2AG" "H2A histone family, member P|histone 1, H2ag|histone cluster 1, H2ag|histone cluster 1 H2A family member g" H2A histones 1936 1998-10-05 2019-07-23 2019-07-23 2019-07-23 8969 ENSG00000196787 OTTHUMG00000014469 uc003niw.4 L19778 NM_021064 CCDS4619 P0C0S8 "8179821|12408966" RGD:1594367 615012 HGNC:4737 "ENST00000359193.4|NM_021064.5" +HGNC:13671 H2AC12 H2A clustered histone 12 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H2AFALii|dJ86C11.1|H2A/S" HIST1H2AH "histone 1, H2ah|histone cluster 1, H2ah|histone cluster 1 H2A family member h" H2A histones 1936 2003-02-19 2019-07-23 2019-07-23 2019-07-23 85235 ENSG00000274997 OTTHUMG00000014468 uc003niz.5 AY131988 NM_080596 CCDS4622 Q96KK5 12408966 RGD:1593006 615013 HGNC:13671 "ENST00000377459.3|NM_080596.3" +HGNC:4725 H2AC13 H2A clustered histone 13 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 H2A/c "H2AFC|HIST1H2AI" "H2A histone family, member C|histone 1, H2ai|histone cluster 1, H2ai|histone cluster 1 H2A family member i" H2A histones 1936 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8329 ENSG00000196747 OTTHUMG00000014484 uc063mkb.1 Z83742 NM_003509 CCDS4626 P0C0S8 "9439656|12408966" 602787 HGNC:4725 "ENST00000358739.5|NM_003509.3" +HGNC:4727 H2AC14 H2A clustered histone 14 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 H2A/E "H2AFE|HIST1H2AJ" "H2A histone family, member E|histone 1, H2aj|histone cluster 1, H2aj|histone cluster 1 H2A family member j" H2A histones 1936 2003-02-11 2019-07-23 2019-07-23 2019-07-23 8331 ENSG00000276368 OTTHUMG00000014486 uc003njn.2 Z83736 NM_021066 CCDS4628 Q99878 "9439656|12408966" 602791 HGNC:4727 "ENST00000333151.5|NM_021066.3" +HGNC:4726 H2AC15 H2A clustered histone 15 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 H2A/d "H2AFD|HIST1H2AK" "H2A histone family, member D|histone 1, H2ak|histone cluster 1, H2ak|histone cluster 1 H2A family member k" H2A histones 1936 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8330 ENSG00000275221 OTTHUMG00000016382 uc003njs.4 Z83739 NM_003510 CCDS4632 P0C0S8 "9439656|12408966" 602788 HGNC:4726 "ENST00000618958.2|NM_003510.3" +HGNC:4730 H2AC16 H2A clustered histone 16 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H2A/i|dJ193B12.9" "H2AFI|HIST1H2AL" "H2A histone family, member I|histone 1, H2al|histone cluster 1, H2al|histone cluster 1 H2A family member l" H2A histones 1936 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8332 ENSG00000276903 OTTHUMG00000014492 uc003njw.4 X83549 NM_003511 CCDS4634 P0C0S8 "9439656|9031620|12408966" 602793 HGNC:4730 "ENST00000613174.2|NM_003511.3" +HGNC:4735 H2AC17 H2A clustered histone 17 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H2A/n|H2A.1" "H2AFN|HIST1H2AM" "H2A histone family, member N|histone 1, H2am|histone cluster 1, H2am|histone cluster 1 H2A family member m" H2A histones 1936 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8336 ENSG00000278677 OTTHUMG00000014494 uc003nkb.2 X57138 NM_003514 CCDS4639 P0C0S8 "1768865|9439656|12408966" 602796 HGNC:4735 "ENST00000359611.4|NM_003514.2" +HGNC:4736 H2AC18 H2A clustered histone 18 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "H2A.2|H2A/q" "H2AFO|HIST2H2AA|HIST2H2AA3" "H2A histone family, member O|histone 2, H2aa|histone 2, H2aa3|histone cluster 2, H2aa3|histone cluster 2 H2A family member a3" H2A histones 1936 1998-09-07 2019-07-23 2019-07-23 2019-07-23 8337 ENSG00000203812 OTTHUMG00000188678 uc001esw.4 K01889 NM_003516 CCDS934 Q6FI13 "6326092|8179821|15527963" "MGI:96097|MGI:2448283" RGD:1307165 142720 HGNC:4736 "ENST00000369159.3|NM_003516.3" +HGNC:29668 H2AC19 H2A clustered histone 19 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 H2A/r HIST2H2AA4 "histone 2, H2aa4|histone cluster 2, H2aa4|histone cluster 2 H2A family member a4" H2A histones 1936 2006-06-12 2019-07-23 2019-07-23 2019-07-23 723790 ENSG00000272196 OTTHUMG00000012097 uc001esx.4 L19779 NM_001040874 CCDS30849 Q6FI13 15527963 "MGI:96097|MGI:2448283" HGNC:29668 "ENST00000607355.3|NM_001040874.1" +HGNC:4738 H2AC20 H2A clustered histone 20 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 H2A/q "H2A|H2AFQ|HIST2H2AC" "H2A histone family, member Q|histone 2, H2ac|histone cluster 2, H2ac|histone cluster 2 H2A family member c" H2A histones 1936 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8338 ENSG00000184260 OTTHUMG00000035825 uc001etd.4 AY131973 NM_003517 CCDS937 Q16777 "1469070|9439656|12408966" "MGI:2448314|MGI:2448316" RGD:1560965 602797 HGNC:4738 "ENST00000331380.4|NM_003517.3" +HGNC:20508 H2AC21 H2A clustered histone 21 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 HIST2H2AB "histone 2, H2ab|histone cluster 2, H2ab|histone cluster 2 H2A family member b" H2A histones 1936 2003-02-19 2019-07-23 2019-07-23 2019-07-23 317772 ENSG00000184270 OTTHUMG00000012085 uc001ete.4 AY131972 NM_175065 CCDS938 Q8IUE6 12408966 MGI:2448314 RGD:1584064 615014 HGNC:20508 "ENST00000331128.6|NM_175065.3" +HGNC:42647 H2ACP1 H2AC histone family pseudogene 1 pseudogene pseudogene Approved 13q13.3 13q13.3 HIST1H2APS6 "histone cluster 1, H2a, pseudogene 6|histone cluster 1 H2A pseudogene 6|HIST1H2A pseudogene 6" 2011-08-10 2019-07-31 2019-07-31 2019-07-31 100509927 ENSG00000223383 OTTHUMG00000016734 NG_029174 PGOHUM00000248361 HGNC:42647 +HGNC:54439 H2ACP2 H2AC histone family pseudogene 2 pseudogene pseudogene Approved 2p22.3 02p22.3 2019-08-01 2019-11-27 115482716 ENSG00000223951 NG_066061 HGNC:54439 +HGNC:14456 H2AJ H2A.J histone protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "FLJ10903|MGC921" H2AFJ "H2A histone family, member J|H2A histone family member J" H2A histones 1936 2001-04-27 2019-07-23 2019-07-23 2019-07-23 55766 ENSG00000246705 OTTHUMG00000168736 uc009zia.4 AK001765 NM_177925 CCDS31752 Q9BTM1 28489069 MGI:3606192 RGD:1592176 HGNC:14456 "ENST00000544848.3|NM_177925.5" +HGNC:53961 H2AL1MP H2A.L variant histone 1M, pseudogene pseudogene pseudogene Approved Xp21.1 Xp21.1 H2AL1SP H2A.L variant histone S, pseudogene H2A histones 1936 2019-07-31 2021-05-20 2021-05-20 2021-05-20 115482687 ENSG00000285944 NG_068484 29549088 MGI:1923633 PGOHUM00000305011 +HGNC:53959 H2AL1Q H2A.L variant histone 1Q other unknown Approved Xp21.1 Xp21.1 H2A.L.1 H2AL1QP "H2A.L variant histone Q, pseudogene|H2A.L variant histone 1Q, pseudogene" H2A histones 1936 2019-07-31 2021-06-23 2021-06-23 2021-06-23 115482714 ENSG00000249467 OTTHUMG00000021357 NG_066059 29549088 HGNC:53959 +HGNC:53960 H2AL3 H2A.L variant histone 3 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 H2A.L.3 H2AL1RP H2A.L variant histone R, pseudogene H2A histones 1936 2019-07-31 2021-05-17 2021-05-17 2021-07-20 115482686 ENSG00000229674 OTTHUMG00000150277 NM_001395555 A0A3B3IU63 29549088 MGI:1922521 RGD:2324764 HGNC:53960 +HGNC:18417 H2AP H2A.P histone protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 HIP17 "CXorf27|HYPM" "chromosome X open reading frame 27|huntingtin interacting protein M" H2A histones 1936 2004-07-29 2019-07-23 2019-07-23 2020-04-02 25763 ENSG00000187516 OTTHUMG00000033180 AF049615 NM_012274 CCDS43929 O75409 "9700202|29549088" MGI:1914584 RGD:1563155 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf27 HGNC:18417 "ENST00000341016.5|NM_012274.2" +HGNC:53962 H2AQ1P H2A.Q variant histone 1, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 H2A histones 1936 2019-08-02 2019-11-27 115482715 ENSG00000285989 NG_066060 29549088 HGNC:53962 +HGNC:20507 H2AW H2A.W histone protein-coding gene gene with protein product Approved 1q42.13 01q42.13 MGC3165 HIST3H2A "histone 3, H2a|histone cluster 3, H2a|histone cluster 3 H2A" H2A histones 1936 2003-02-19 2019-07-23 2019-07-23 2020-10-29 92815 ENSG00000181218 OTTHUMG00000040046 uc001hsy.4 AY131974 NM_033445 CCDS1573 Q7L7L0 12408966 MGI:2448458 615015 HGNC:20507 "ENST00000689584.1|NM_033445.3" +HGNC:4739 H2AX H2A.X variant histone protein-coding gene gene with protein product Approved 11q23.3 11q23.3 H2AFX "H2A histone family, member X|H2A histone family member X" H2A histones 1936 1994-11-22 2019-07-23 2019-07-23 2019-07-25 3014 ENSG00000188486 OTTHUMG00000166196 uc001pvg.4 X14850 NM_002105 CCDS8410 P16104 8076949 MGI:102688 RGD:1566119 601772 HGNC:4739 "ENST00000530167.2|NM_002105.3" +HGNC:4741 H2AZ1 H2A.Z variant histone 1 protein-coding gene gene with protein product Approved 4q23 04q23 H2A.Z "H2AZ|H2AFZ" "H2A histone family, member Z|H2A histone family member Z" H2A histones 1936 1993-10-28 2019-07-23 2019-07-23 2019-07-23 3015 ENSG00000164032 OTTHUMG00000131048 uc003hvo.2 X52317 NM_002106 CCDS3654 P0C0S5 1697587 MGI:1888388 RGD:621464 142763 HGNC:4741 "ENST00000296417.6|NM_002106.4" +HGNC:40271 H2AZ1-DT H2AZ1 divergent transcript non-coding RNA RNA, long non-coding Approved 4q23 04q23 Divergent transcripts 1990 2019-08-07 2019-08-07 256880 ENSG00000245322 OTTHUMG00000161022 NR_125923 HGNC:40271 +HGNC:20664 H2AZ2 H2A.Z variant histone 2 protein-coding gene gene with protein product Approved 7p13 07p13 "MGC10170|MGC10831|MGC1947" "H2AV|H2AFV" "H2A histone family, member V|H2A histone family member V" H2A histones 1936 2004-01-16 2019-07-23 2019-07-23 2019-07-23 94239 ENSG00000105968 OTTHUMG00000129217 uc003tma.3 AF081192 NM_012412 "CCDS47581|CCDS5495|CCDS5497|CCDS5496|CCDS5498" Q71UI9 MGI:1924855 RGD:1587865 HGNC:20664 "ENST00000308153.9|NM_012412.5" +HGNC:52775 H2AZ2-DT H2AZ2 divergent transcript non-coding RNA RNA, long non-coding Approved 7p13 07p13 AC004854.4 LINC01952 long intergenic non-protein coding RNA 1952 Divergent transcripts 1990 2016-12-09 2021-07-05 2021-07-05 2021-07-05 105375261 ENSG00000234183 OTTHUMG00000155819 XR_927227 27836685 HGNC:52775 +HGNC:31026 H2AZ2P1 H2AZ2 pseudogene 1 pseudogene pseudogene Approved 15q26.1 15q26.1 HsT19970 "H2AFVP|H2AFVP1" "H2A histone family, member V, pseudogene|H2A histone family, member V, pseudogene 1|H2A histone family member V pseudogene 1" 2006-01-17 2019-07-23 2019-07-23 2019-07-23 654500 ENSG00000258741 AC091544 NG_009543 PGOHUM00000246930 HGNC:31026 +HGNC:4742 H2AZP1 H2A.Z histone pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 "H2AFZP|H2AFZP1" "H2A histone family, member Z, pseudogene|H2A histone family, member Z pseudogene 1|H2A histone family member Z pseudogene 1" 2000-05-23 2019-07-23 2019-07-23 2019-07-23 54049 ENSG00000213440 OTTHUMG00000086895 U61521 NG_000922 PGOHUM00000239090 HGNC:4742 +HGNC:32279 H2AZP2 H2A.Z histone pseudogene 2 pseudogene pseudogene Approved 8q13.3 08q13.3 H2AFZP2 "H2A histone family, member Z pseudogene 2|H2A histone family member Z pseudogene 2" 2005-09-22 2019-07-23 2019-07-23 2019-07-23 346990 ENSG00000253173 NG_005179 PGOHUM00000249380 HGNC:32279 +HGNC:38013 H2AZP3 H2A.Z histone pseudogene 3 pseudogene pseudogene Approved 13q32.3 13q32.3 H2AFZP3 "H2A histone family, member Z pseudogene 3|H2A histone family member Z pseudogene 3" 2010-03-19 2019-07-23 2019-07-23 2019-07-23 728023 ENSG00000218502 OTTHUMG00000017262 NG_011430 PGOHUM00000248478 HGNC:38013 +HGNC:38015 H2AZP4 H2A.Z histone pseudogene 4 pseudogene pseudogene Approved 11q13.3 11q13.3 H2AFZP4 "H2A histone family, member Z pseudogene 4|H2A histone family member Z pseudogene 4" 2010-03-19 2019-07-23 2019-07-23 2019-11-27 100462795 ENSG00000255329 OTTHUMG00000167302 NG_021792 PGOHUM00000242349 HGNC:38015 +HGNC:38018 H2AZP5 H2A.Z histone pseudogene 5 pseudogene pseudogene Approved 10q22.3 10q22.3 H2AFZP5 "H2A histone family, member Z pseudogene 5|H2A histone family member Z pseudogene 5" 2010-03-19 2019-07-23 2019-07-23 2019-07-23 100288330 ENSG00000234612 OTTHUMG00000018546 NG_022973 PGOHUM00000238850 HGNC:38018 +HGNC:38019 H2AZP6 H2A.Z histone pseudogene 6 pseudogene pseudogene Approved 22q12.2 22q12.2 H2AFZP6 "H2A histone family, member Z pseudogene 6|H2A histone family member Z pseudogene 6" 2010-03-19 2019-07-23 2019-07-23 2019-11-27 100462800 ENSG00000233733 OTTHUMG00000030795 NG_022870 PGOHUM00000246310 HGNC:38019 +HGNC:54440 H2AZP7 H2A.Z histone pseudogene 7 pseudogene pseudogene Approved 8q23.3 08q23.3 2019-08-01 2019-11-27 115482726 ENSG00000253156 NG_066070 HGNC:54440 +HGNC:18730 H2BC1 H2B clustered histone 1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "bA317E16.3|STBP|TSH2B|H2BFU" HIST1H2BA "H2B histone family, member U, (testis-specific)|histone 1, H2ba|histone cluster 1, H2ba|histone cluster 1 H2B family member a" H2B histones 1937 2003-02-07 2019-07-23 2019-07-23 2019-07-23 255626 ENSG00000146047 OTTHUMG00000014408 uc003nfd.4 AF397301 NM_170610 CCDS4563 Q96A08 "12408966|12213818" MGI:2448375 RGD:3855 609904 HGNC:18730 "ENST00000274764.5|NM_170610.3" +HGNC:18719 H2BC2P H2B clustered histone 2, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 "bA317E16.4|H2BFVP" HIST1H2BPS1 "histone 1, H2b, pseudogene 1|histone cluster 1, H2b, pseudogene 1|histone cluster 1 H2B pseudogene 1" H2B histones 1937 2003-12-09 2019-07-23 2019-07-23 2019-07-23 100288742 ENSG00000178762 OTTHUMG00000014406 NG_027974 PGOHUM00000260110 HGNC:18719 +HGNC:4751 H2BC3 H2B clustered histone 3 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H2B/f "H2BFF|HIST1H2BB" "H2B histone family, member F|histone 1, H2bb|histone cluster 1, H2bb|histone cluster 1 H2B family member b" H2B histones 1937 1997-09-03 2019-07-23 2019-07-23 2019-07-23 3018 ENSG00000276410 OTTHUMG00000014421 uc003nfu.4 AF531285 NM_021062 CCDS4575 P33778 "8227173|12408966" MGI:2448377 RGD:7729692 602803 HGNC:4751 "ENST00000615966.2|NM_021062.3" +HGNC:4757 H2BC4 H2B clustered histone 4 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H2B/l|H2B.1" "H2BFL|HIST1H2BC" "H2B histone family, member L|histone 1, H2bc|histone cluster 1, H2bc|histone cluster 1 H2B family member c" H2B histones 1937 1998-09-07 2019-07-23 2019-07-23 2019-07-23 8347 ENSG00000180596 OTTHUMG00000014425 uc003ngk.5 Z80783 NM_003526 CCDS4584 P62807 "9119399|12408966" 602847 HGNC:4757 "ENST00000396984.2|NM_003526.3" +HGNC:4747 H2BC5 H2B clustered histone 5 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H2B/b "H2BFB|HIST1H2BD" "H2B histone family, member B|histone 1, H2bd|histone cluster 1, H2bd|histone cluster 1 H2B family member d" H2B histones 1937 1997-09-03 2019-07-23 2019-07-23 2019-07-23 3017 ENSG00000158373 OTTHUMG00000014426 uc003ngs.4 M60751 NM_021063 CCDS4587 P58876 "1916825|12408966" "MGI:2448386|MGI:2448404" RGD:1307126 602799 HGNC:4747 "ENST00000377777.6|NM_021063.4" +HGNC:4753 H2BC6 H2B clustered histone 6 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H2B/h|H2B.h" "H2BFH|HIST1H2BE" "H2B histone family, member H|histone 1, H2be|histone cluster 1, H2be|histone cluster 1 H2B family member e" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8344 ENSG00000274290 OTTHUMG00000014427 uc003ngt.5 Z80780 NM_003523 CCDS4588 P62807 "9119399|12408966" 602805 HGNC:4753 "ENST00000614097.3|NM_003523.3" +HGNC:4752 H2BC7 H2B clustered histone 7 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H2B/g "H2BFG|HIST1H2BF" "H2B histone family, member G|histone 1, H2bf|histone cluster 1, H2bf|histone cluster 1 H2B family member f" H2B histones 1937 1998-09-07 2019-07-23 2019-07-23 2019-07-23 8343 ENSG00000277224 OTTHUMG00000014445 uc003ngx.5 Z80779 NM_003522 CCDS4592 P62807 "9119399|12408966" 602804 HGNC:4752 "ENST00000356530.6|NM_003522.4" +HGNC:4746 H2BC8 H2B clustered histone 8 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H2B/a|H2B.1A" "H2BFA|HIST1H2BG" "H2B histone family, member A|histone 1, H2bg|histone cluster 1, H2bg|histone cluster 1 H2B family member g" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8339 ENSG00000273802 OTTHUMG00000014446 uc003ngz.5 M60750 NM_003518 CCDS4594 P62807 "1916825|12408966" RGD:1308088 602798 HGNC:4746 "ENST00000541790.4|NM_003518.4" +HGNC:4755 H2BC9 H2B clustered histone 9 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H2B/j "H2BFJ|HIST1H2BH" "H2B histone family, member J|histone 1, H2bh|histone cluster 1, H2bh|histone cluster 1 H2B family member h" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8345 ENSG00000275713 OTTHUMG00000014447 uc003nhh.5 Z80781 NM_003524 CCDS4601 Q93079 "9119399|12408966" MGI:2448387 RGD:2325039 602806 HGNC:4755 "ENST00000619466.3|NM_003524.3" +HGNC:4756 H2BC10 H2B clustered histone 10 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H2B/k "H2BFK|HIST1H2BI" "H2B histone family, member K|histone 1, H2bi|histone cluster 1, H2bi|histone cluster 1 H2B family member i" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8346 ENSG00000278588 OTTHUMG00000014448 uc003nhk.4 Z80782 NM_003525 CCDS4603 P62807 "9119399|12408966" RGD:1305011 602807 HGNC:4756 "ENST00000377733.4|NM_003525.3" +HGNC:4761 H2BC11 H2B clustered histone 11 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 H2B/r "H2BFR|HIST1H2BJ" "H2B histone family, member R|histone 1, H2bj|histone cluster 1, H2bj|histone cluster 1 H2B family member j" H2B histones 1937 1998-10-05 2019-07-23 2019-07-23 2019-07-23 8970 ENSG00000124635 OTTHUMG00000014470 uc063miy.1 X00088 NM_021058 CCDS4618 P06899 "6647026|12408966" MGI:2448413 RGD:1562346 615044 HGNC:4761 "ENST00000339812.3|NM_021058.4" +HGNC:13954 H2BC12 H2B clustered histone 12 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 H2BFAiii "H2BFT|HIST1H2BK" "H2B histone family, member T|histone 1, H2bk|histone cluster 1, H2bk|histone cluster 1 H2B family member k" H2B histones 1937 2002-11-18 2019-07-23 2019-07-23 2019-07-23 85236 ENSG00000197903 OTTHUMG00000014473 uc063mja.1 AJ223352 NM_080593 CCDS4621 O60814 12408966 RGD:1593016 615045 HGNC:13954 "ENST00000356950.2|NM_001312653.2" +HGNC:4762 H2BC12L H2B clustered histone 12 like protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "H2BFS|H2BS1" "H2B histone family, member S|H2B histone family, member S (pseudogene)|H2B histone family member S (pseudogene)|H2B histone family member S|H2B.S histone 1" H2B histones 1937 2000-05-16 2021-10-18 2021-10-18 2021-10-18 54145 ENSG00000234289 OTTHUMG00000086869 uc002zdj.2 NM_017445 P57053 PGOHUM00000239182 HGNC:4762 "ENST00000599962.2|NM_017445.3" +HGNC:4748 H2BC13 H2B clustered histone 13 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H2B/c|dJ97D16.4" "H2BFC|HIST1H2BL" "H2B histone family, member C|histone 1, H2bl|histone cluster 1, H2bl|histone cluster 1 H2B family member l" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8340 ENSG00000185130 OTTHUMG00000014485 uc003njl.4 Z83740 NM_003519 CCDS4625 Q99880 "9439656|12408966" "MGI:2448399|MGI:2448403|MGI:3702051" 602800 HGNC:4748 "ENST00000377401.4|NM_003519.4" +HGNC:4750 H2BC14 H2B clustered histone 14 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H2B/e|dJ160A22.3" "H2BFE|HIST1H2BM" "H2B histone family, member E|histone 1, H2bm|histone cluster 1, H2bm|histone cluster 1 H2B family member m" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8342 ENSG00000273703 OTTHUMG00000014489 uc003njo.4 Z83738 NM_003521 CCDS4629 Q99879 "9439656|12408966" MGI:2448409 602802 HGNC:4750 "ENST00000621112.2|NM_003521.3" +HGNC:4749 H2BC15 H2B clustered histone 15 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 H2B/d "H2BFD|HIST1H2BN" "H2B histone family, member D|histone 1, H2bn|histone cluster 1, H2bn|histone cluster 1 H2B family member n" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8341 ENSG00000233822 OTTHUMG00000016397 uc063mkf.1 Z83336 NM_003520 CCDS4633 Q99877 "9439656|12408966" MGI:2448377 602801 HGNC:4749 "ENST00000612898.2|NM_003520.4" +HGNC:4754 H2BC16P H2B clustered histone 16, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 pH2B/i "H2BFIP|HIST1H2BPS2" "H2B histone family, member I, pseudogene|histone 1, H2b, pseudogene 2|histone cluster 1, H2b, pseudogene 2|histone cluster 1 H2B pseudogene 2" H2B histones 1937 1998-10-05 2019-07-23 2019-07-23 2019-11-27 10340 ENSG00000217646 OTTHUMG00000014491 X83547 NG_029324 9031620 PGOHUM00000243098 HGNC:4754 +HGNC:4758 H2BC17 H2B clustered histone 17 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H2B/n|H2B.2" "H2BFN|HIST1H2BO" "H2B histone family, member N|histone 1, H2bo|histone cluster 1, H2bo|histone cluster 1 H2B family member o" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8348 ENSG00000274641 OTTHUMG00000014493 uc003nkc.2 X57138 NM_003527 CCDS4640 P23527 "1768865|12408966" 602808 HGNC:4758 "ENST00000616182.2|NM_003527.4" +HGNC:24700 H2BC18 H2B clustered histone 18 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 HIST2H2BF "histone 2, H2bf|histone cluster 2, H2bf|histone cluster 2 H2B family member f" H2B histones 1937 2006-06-12 2019-07-23 2019-07-23 2019-07-23 440689 ENSG00000203814 OTTHUMG00000183159 uc001esr.5 BC110793 NM_001024599 "CCDS30846|CCDS53359" Q5QNW6 MGI:2448413 HGNC:24700 "ENST00000369167.3|NM_001024599.5" +HGNC:20517 H2BC19P H2B clustered histone 19, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 "H2B/s|H2B/o" "H2BFO|HIST2H2BD" "histone 2, H2bd|H2B histone family, member O|histone cluster 2, H2bd (pseudogene)|histone cluster 2 H2B family member d (pseudogene)" H2B histones 1937 2003-02-20 2019-07-23 2019-07-23 2019-11-27 337874 ENSG00000220323 OTTHUMG00000035827 AY131978 NG_001226 Q6DRA6 "12408966|15527963" PGOHUM00000296567 HGNC:20517 +HGNC:20516 H2BC20P H2B clustered histone 20, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 "H2B/t|LETN" lncRNA essential for tumor cell proliferation via NPM1 HIST2H2BC "histone 2, H2bc|histone cluster 2, H2bc|histone cluster 2, H2bc (pseudogene)|histone cluster 2 H2B family member c (pseudogene)" H2B histones 1937 2003-02-20 2019-07-23 2019-07-23 2021-11-17 337873 ENSG00000261716 OTTHUMG00000035826 AY131977 NR_036461 Q6DN03 "12408966|15527963" PGOHUM00000295892 HGNC:20516 +HGNC:4760 H2BC21 H2B clustered histone 21 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "H2B/q|H2B.1|H2BE|H2B-GL105" "H2B|H2BFQ|HIST2H2BE" "H2B histone family, member Q|histone 2, H2be|histone cluster 2, H2be|histone cluster 2 H2B family member e" H2B histones 1937 1998-08-27 2019-07-23 2019-07-23 2021-08-05 8349 ENSG00000184678 OTTHUMG00000012095 uc057klp.1 AY131979 NM_003528 CCDS936 Q16778 "1469070|12408966|23240083" 601831 HGNC:4760 "ENST00000369155.4|NM_003528.3" +HGNC:53833 H2BK1 H2B.K variant histone 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 H2BE1 H2B.E variant histone 1 H2B histones 1937 2019-08-01 2021-10-18 2021-10-18 2022-02-02 114483833 ENSG00000285480 OTTHUMG00000192397 NM_001369125 A0A2R8Y619 "31537640|35099534" HGNC:53833 "ENST00000644661.2|NM_001369125.3" +HGNC:54442 H2BL1P H2B.L histone variant 1, pseudogene pseudogene pseudogene Approved 5q13.2 05q13.2 "1700024P04Rik|SubH2Bv" H2BP4 H2B histone pseudogene 4 H2B histones 1937 2019-08-02 2019-10-25 2019-10-25 2020-08-13 115482689 ENSG00000223497 OTTHUMG00000154742 NG_066041 "22511613|11892742|19159874" MGI:1916632 HGNC:54442 +HGNC:56200 H2BN1 H2B.N variant histone 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 H2B histones 1937 2022-02-11 2022-02-11 124188214 NM_001401340 +HGNC:20560 H2BP1 H2B histone pseudogene 1 pseudogene pseudogene Approved 1p11.2 01p11.2 HIST2H2BA "histone 2, H2ba|histone cluster 2, H2ba|histone cluster 2, H2ba (pseudogene)|histone cluster 2 H2B family member a (pseudogene)" 2003-02-20 2019-07-23 2019-07-23 2019-07-23 337875 ENSG00000223345 OTTHUMG00000040899 AY131975 NR_027337 12408966 HGNC:20560 +HGNC:20654 H2BP2 H2B histone pseudogene 2 pseudogene pseudogene Approved 1q21.1 01q21.1 HIST2H2BB "histone 2, H2bb|histone cluster 2, H2bb|histone cluster 2, H2bb (pseudogene)|histone cluster 2 H2B family member b (pseudogene)" 2003-03-12 2019-07-23 2019-07-23 2019-08-28 338391 ENSG00000234571 OTTHUMG00000012093 AY131976 NG_002652 12408966 PGOHUM00000244262 HGNC:20654 +HGNC:54441 H2BP3 H2B histone pseudogene 3 pseudogene pseudogene Approved 3q13.31 03q13.31 2019-08-01 2019-11-27 391566 ENSG00000240912 OTTHUMG00000159338 NG_030105 PGOHUM00000299139 HGNC:54441 +HGNC:54443 H2BP5 H2B histone pseudogene 5 pseudogene pseudogene Approved 6p22.2 06p22.2 2019-08-02 2019-11-27 115482690 ENSG00000277410 OTTHUMG00000014411 NG_066042 PGOHUM00000301688 HGNC:54443 +HGNC:42633 H2BP6 H2B histone pseudogene 6 pseudogene pseudogene Approved 13q12.11 13q12.11 HIST1H2BPS3 "histone cluster 1, H2b, pseudogene 3|histone cluster 1 H2B pseudogene 3|HIST1H2B pseudogene 3" 2011-08-10 2019-08-01 2019-08-01 2019-08-01 100820735 ENSG00000226908 OTTHUMG00000016544 NG_030513 PGOHUM00000248323 HGNC:42633 +HGNC:54444 H2BP7 H2B histone pseudogene 7 pseudogene pseudogene Approved Xp22.11 Xp22.11 2019-08-02 2019-11-27 115482717 ENSG00000226222 OTTHUMG00000021272 NG_066062 PGOHUM00000304970 HGNC:54444 +HGNC:54445 H2BP8 H2B histone pseudogene 8 pseudogene pseudogene Approved Xq22.1 Xq22.1 2019-08-02 2019-11-27 115482725 ENSG00000235976 OTTHUMG00000022045 NG_066069 HGNC:54445 +HGNC:54446 H2BP9 H2B histone pseudogene 9 pseudogene pseudogene Approved Xq22.2 Xq22.2 2019-08-02 2019-11-27 115482691 ENSG00000231787 OTTHUMG00000022113 NG_066043 PGOHUM00000304792 HGNC:54446 +HGNC:20514 H2BU1 H2B.U histone 1 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 HIST3H2BB "histone 3, H2bb|histone cluster 3, H2bb|histone cluster 3 H2B family member b" H2B histones 1937 2003-02-20 2019-07-26 2019-07-26 2019-07-26 128312 ENSG00000196890 OTTHUMG00000040045 uc001hsz.4 AY131981 NM_175055 CCDS1574 Q8N257 12408966 "MGI:1922442|MGI:1925553" RGD:1583885 615046 HGNC:20514 "ENST00000693095.1|NM_175055.3" +HGNC:20515 H2BU2P H2B.U histone 2, pseudogene pseudogene pseudogene Approved 1q42.13 01q42.13 HIST3H2BA "histone 3, H2ba|histone cluster 3, H2ba|histone cluster 3, H2ba (pseudogene)|histone cluster 3 H2B family member a (pseudogene)" H2B histones 1937 2003-02-20 2019-07-26 2019-07-26 2020-08-14 337872 ENSG00000181201 OTTHUMG00000040095 AY131980 NG_002618 12408966 MGI:1925553 HGNC:20515 +HGNC:27252 H2BW1 H2B.W histone 1 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 TH2B-175 H2BFWT "H2B histone family, member W, testis-specific|H2B histone family member W, testis specific" H2B histones 1937 2004-05-17 2019-07-31 2019-07-31 2021-07-07 158983 ENSG00000123569 OTTHUMG00000022120 uc004elr.4 BC038109 NM_001002916 CCDS35362 Q7Z2G1 15475252 MGI:1916639 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/H2BFWT 300507 HGNC:27252 "ENST00000217926.7|NM_001002916.5" +HGNC:27867 H2BW2 H2B.W histone 2 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "H2BFM|H2BM" "H2B histone family, member M|H2B histone family member M|H2B.M histone" H2B histones 1937 2005-12-22 2019-07-31 2019-07-31 2019-07-31 286436 ENSG00000101812 OTTHUMG00000022122 uc004els.2 AK093522 NM_001164416 CCDS55468 P0C1H6 28096900 MGI:1916639 HGNC:27867 "ENST00000675318.3|NM_001388464.1" +HGNC:44390 H2BW3P H2B.W histone 3, pseudogene pseudogene pseudogene Approved Xq22.2 Xq22.2 H2B histones 1937 2019-07-31 2020-05-06 100101478 ENSG00000235946 OTTHUMG00000022121 NR_130172 PGOHUM00000241486 HGNC:44390 +HGNC:25757 H2BW4P H2B.W histone 4, pseudogene pseudogene pseudogene Approved Xq22.2 Xq22.2 H2BFXP "H2B histone family, member X, pseudogene|H2B histone family member X, pseudogene" H2B histones 1937 2006-09-25 2019-07-31 2019-07-31 2019-07-31 767811 AY730279 NR_003238 PGOHUM00000305234 HGNC:25757 +HGNC:4764 H3-3A H3.3 histone A protein-coding gene gene with protein product Approved 1q42.12 01q42.12 H3.3A "H3F3|H3F3A" "H3 histone, family 3A|H3 histone family member 3A" H3 histones 1938 1989-12-11 2019-07-23 2019-07-23 2021-05-26 3020 ENSG00000163041 OTTHUMG00000037507 uc057pya.1 BC029405 NM_002107 CCDS1550 P84243 3031613 MGI:1097686 RGD:2319910 LRG_1410|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1410.xml 601128 HGNC:4764 "ENST00000366815.10|NM_002107.7" +HGNC:55210 H3-3A-DT H3-3A divergent transcript non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 Divergent transcripts 1990 2020-08-21 2020-08-21 118568813 ENSG00000272562 XR_007066906 +HGNC:4765 H3-3B H3.3 histone B protein-coding gene gene with protein product Approved 17q25.1 17q25.1 H3.3B H3F3B "H3 histone, family 3B (H3.3B)|H3 histone, family 3B|H3 histone family member 3B" H3 histones 1938 1995-10-02 2019-07-23 2019-07-23 2019-07-23 3021 ENSG00000132475 OTTHUMG00000179842 uc060kcj.1 Z48950 NM_005324 CCDS11729 P84243 8586426 MGI:1101768 RGD:621095 601058 HGNC:4765 "ENST00000254810.8|NM_005324.5" +HGNC:4778 H3-4 H3.4 histone protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "H3t|H3/g|H3.4" "H3FT|HIST3H3" "H3 histone family, member T|histone 3, H3|histone cluster 3, H3|histone cluster 3 H3" H3 histones 1938 1998-09-30 2019-07-23 2019-07-23 2021-05-26 8290 ENSG00000168148 OTTHUMG00000040044 uc001hsx.1 Z49861 NM_003493 CCDS1572 Q16695 "8834248|12408966" MGI:3651326 RGD:1583877 602820 HGNC:4778 "ENST00000366696.2|NM_003493.3" +HGNC:33164 H3-5 H3.5 histone protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "H3.5|H3.3C" H3F3C "H3 histone, family 3C|H3 histone family member 3C" H3 histones 1938 2009-08-13 2019-07-23 2019-07-23 2022-02-10 440093 ENSG00000188375 OTTHUMG00000157811 uc001rkr.3 BC066906 NM_001013699 CCDS31769 Q6NXT2 21274551 616134 HGNC:33164 "ENST00000340398.5|NM_001013699.3" +HGNC:32060 H3-7 H3.7 histone (putative) protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "p06|H3.7" "HIST2H3PS2|H3-2" "histone 2, H3, pseudogene 2|histone cluster 2, H3, pseudogene 2|histone cluster 2 H3 pseudogene 2|H3.2 histone (putative)" H3 histones 1938 2006-06-12 2021-10-18 2021-10-18 2021-10-18 440686 ENSG00000273213 OTTHUMG00000041033 uc057jyp.2 AL109948 NM_001355409 Q5TEC6 28374988 RGD:1584001 HGNC:32060 "ENST00000392948.5|NM_001372105.2" +HGNC:4766 H3C1 H3 clustered histone 1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H3/A "H3FA|HIST1H3A" "H3 histone family, member A|histone 1, H3a|histone cluster 1, H3a|histone cluster 1 H3 family member a" H3 histones 1938 1998-09-07 2019-07-23 2019-07-23 2021-06-17 8350 ENSG00000275714 OTTHUMG00000014418 uc003nfp.2 Z46261 NM_003529 CCDS4570 P68431 "9119399|12408966" MGI:2668828 RGD:1598076 602810 HGNC:4766 "ENST00000613854.2|NM_003529.3" +HGNC:4776 H3C2 H3 clustered histone 2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H3/l "H3FL|HIST1H3B" "H3 histone family, member L|histone 1, H3b|histone cluster 1, H3b|histone cluster 1 H3 family member b" H3 histones 1938 1998-08-27 2019-07-23 2019-07-23 2021-06-17 8358 ENSG00000286522 OTTHUMG00000014415 uc003nfs.2 X00090 NM_003537 CCDS4573 P68431 "6647026|9119399|12408966" MGI:2448319 602819 HGNC:4776 "ENST00000621411.3|NM_003537.4" +HGNC:4768 H3C3 H3 clustered histone 3 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H3/c|H3.1" "H3FC|HIST1H3C" "H3 histone family, member C|histone 1, H3c|histone cluster 1, H3c|histone cluster 1 H3 family member c" H3 histones 1938 1998-08-27 2019-07-23 2019-07-23 2020-01-06 8352 ENSG00000287080 OTTHUMG00000014416 uc003nfv.4 X57128 NM_003531 CCDS4576 P68431 "8227173|9119399|12408966" 602812 HGNC:4768 "ENST00000612966.3|NM_003531.3" +HGNC:4767 H3C4 H3 clustered histone 4 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H3/b "H3FB|HIST1H3D" "H3 histone family, member B|histone 1, H3d|histone cluster 1, H3d|histone cluster 1 H3 family member d" H3 histones 1938 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8351 ENSG00000197409 OTTHUMG00000014433 uc063mgi.1 Z80784 NM_003530 CCDS4590 P68431 "9119399|12408966" MGI:2145541 RGD:1311554 602811 HGNC:4767 "ENST00000356476.3|NM_001376937.1" +HGNC:54427 H3C5P H3 clustered histone 5, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 H3 histones 1938 2019-07-30 2019-11-27 115482688 ENSG00000277720 NG_066040 HGNC:54427 +HGNC:4769 H3C6 H3 clustered histone 6 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H3/d|H3.1" "H3FD|HIST1H3E" "H3 histone family, member D|histone 1, H3e|histone cluster 1, H3e|histone cluster 1 H3 family member e" H3 histones 1938 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8353 ENSG00000274750 OTTHUMG00000014434 uc003nhc.6 M60746 NM_003532 CCDS4596 P68431 "1916825|12408966" 602813 HGNC:4769 "ENST00000614911.3|NM_003532.3" +HGNC:4773 H3C7 H3 clustered histone 7 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H3/i "H3FI|HIST1H3F" "H3 histone family, member I|histone 1, H3f|histone cluster 1, H3f|histone cluster 1 H3 family member f" H3 histones 1938 1998-10-05 2019-07-23 2019-07-23 2019-07-23 8968 ENSG00000277775 OTTHUMG00000014435 uc003nhg.2 Z80786 NM_021018 CCDS4600 P68431 "9119399|12408966" MGI:2668828 602816 HGNC:4773 "ENST00000618052.2|NM_021018.3" +HGNC:4772 H3C8 H3 clustered histone 8 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H3/h "H3FH|HIST1H3G" "H3 histone family, member H|histone 1, H3g|histone cluster 1, H3g|histone cluster 1 H3 family member g" H3 histones 1938 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8355 ENSG00000273983 OTTHUMG00000014436 uc003nhi.4 Z80785 NM_003534 CCDS4602 P68431 "9119399|12408966" 602815 HGNC:4772 "ENST00000614378.2|NM_003534.3" +HGNC:18982 H3C9P H3 clustered histone 9, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 "dJ45P21.6|H3F3AP1|p36" HIST1H3PS1 "histone 1, H3, pseudogene 1|histone cluster 1, H3, pseudogene 1|histone cluster 1 H3 pseudogene 1" H3 histones 1938 2003-12-09 2019-07-23 2019-07-23 2019-07-23 100289545 ENSG00000220875 OTTHUMG00000014455 NG_029540 21782046 PGOHUM00000301273 HGNC:18982 +HGNC:4775 H3C10 H3 clustered histone 10 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H3/k|H3F1K" "H3FK|HIST1H3H" "H3 histone family, member K|histone 1, H3h|histone cluster 1, H3h|histone cluster 1 H3 family member h" H3 histones 1938 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8357 ENSG00000278828 OTTHUMG00000014483 uc003njm.4 Z83735 NM_003536 CCDS4627 P68431 "9439656|12408966" 602818 HGNC:4775 "ENST00000685041.1|NM_003536.3" +HGNC:4771 H3C11 H3 clustered histone 11 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H3/f|H3.f" "H3FF|HIST1H3I" "H3 histone family, member F|histone 1, H3i|histone cluster 1, H3i|histone cluster 1 H3 family member i" H3 histones 1938 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8354 ENSG00000275379 OTTHUMG00000016184 uc003njy.4 X83550 NM_003533 CCDS4636 P68431 "9031620|9439656|12408966" RGD:1585577 602814 HGNC:4771 "ENST00000616365.2|NM_003533.3" +HGNC:4774 H3C12 H3 clustered histone 12 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 H3/j "H3FJ|HIST1H3J" "H3 histone family, member J|histone 1, H3j|histone cluster 1, H3j|histone cluster 1 H3 family member j" H3 histones 1938 1998-08-27 2019-07-23 2019-07-23 2019-07-23 8356 ENSG00000197153 OTTHUMG00000016185 uc003nka.4 Z83737 NM_003535 CCDS4638 P68431 "9439656|12408966" RGD:1591702 602817 HGNC:4774 "ENST00000359303.4|NM_003535.3" +HGNC:25311 H3C13 H3 clustered histone 13 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 HIST2H3D "histone 2, H3d|histone cluster 2, H3d|histone cluster 2 H3 family member d" H3 histones 1938 2006-06-12 2019-07-23 2019-07-23 2019-07-23 653604 ENSG00000183598 OTTHUMG00000012092 uc010pbl.3 AL591493 NM_001123375 CCDS41388 Q71DI3 MGI:2448415 RGD:1586732 HGNC:25311 "ENST00000331491.2|NM_001123375.3" +HGNC:20503 H3C14 H3 clustered histone 14 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "MGC9629|H3/m|H3|H3.2|H3/M" "H3F2|H3FM|HIST2H3C" "H3 histone family, member M|histone 2, H3c|histone cluster 2, H3c|histone cluster 2 H3 family member c" H3 histones 1938 2003-02-19 2019-07-23 2019-07-23 2020-04-20 126961 ENSG00000203811 OTTHUMG00000012190 uc001esv.4 AF531307 NM_021059 CCDS30848 Q71DI3 "12408966|3013246" RGD:1306445 142780 HGNC:20503 "ENST00000369158.2|NM_021059.3" +HGNC:20505 H3C15 H3 clustered histone 15 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "H3/n|H3/o" HIST2H3A "histone 2, H3a|histone cluster 2, H3a|histone cluster 2 H3 family member a" H3 histones 1938 2003-02-19 2019-07-23 2019-07-23 2019-07-23 333932 ENSG00000203852 OTTHUMG00000012094 uc001esy.4 AF531305 NM_001005464 CCDS30850 Q71DI3 "12408966|15527963" HGNC:20505 "ENST00000403683.2|NM_001005464.3" +HGNC:43794 H3P1 H3 histone pseudogene 1 pseudogene pseudogene Approved 1p36.11 01p36.11 p02 2019-08-02 2019-08-02 115482711 ENSG00000230228 OTTHUMG00000013896 NG_068488 21782046 PGOHUM00000243934 +HGNC:43795 H3P2 H3 histone pseudogene 2 pseudogene pseudogene Approved 1p32.3 01p32.3 p03 2019-08-02 2019-11-27 115482681 ENSG00000237279 OTTHUMG00000008931 NG_066035 21782046 PGOHUM00000244033 HGNC:43795 +HGNC:43796 H3P3 H3 histone pseudogene 3 pseudogene pseudogene Approved 1p22.1 01p22.1 p04 2019-08-02 2019-08-02 115482682 ENSG00000234202 OTTHUMG00000010893 NG_068483 21782046 PGOHUM00000244103 +HGNC:43797 H3P4 H3 histone pseudogene 4 pseudogene pseudogene Approved 1p11.2 01p11.2 p05 HIST2H3DP1 "histone cluster 2, H3d pseudogene 1|histone cluster 2 H3 family member d pseudogene 1" 2012-04-13 2019-07-23 2019-07-23 2019-07-23 106479023 ENSG00000213244 OTTHUMG00000040898 NR_160943 21782046 PGOHUM00000244879 HGNC:43797 +HGNC:43798 H3P5 H3 histone pseudogene 5 pseudogene pseudogene Approved 2p23.1 02p23.1 p12 2019-08-02 2019-11-27 115482712 ENSG00000231712 OTTHUMG00000152128 NG_066057 21782046 PGOHUM00000240611 HGNC:43798 +HGNC:42980 H3P6 H3 histone pseudogene 6 pseudogene pseudogene Approved 2q31.1 02q31.1 p13 H3F3AP4 H3 histone, family 3A, pseudogene 4 2011-09-13 2019-08-01 2019-08-01 2019-08-01 440926 ENSG00000235655 OTTHUMG00000154155 NR_002315 21782046 HGNC:42980 +HGNC:43799 H3P7 H3 histone pseudogene 7 pseudogene pseudogene Approved 2q31.2 02q31.2 p60 2019-08-02 2019-11-27 115482683 ENSG00000237178 OTTHUMG00000154138 NG_066036 21782046 PGOHUM00000241030 HGNC:43799 +HGNC:54449 H3P8 H3 histone pseudogene 8 pseudogene pseudogene Approved 2q33.2 02q33.2 p14 2019-08-02 2020-11-11 115482693 ENSG00000270915 OTTHUMG00000184348 NG_078976 21782046 PGOHUM00000298284 +HGNC:43801 H3P9 H3 histone pseudogene 9 pseudogene pseudogene Approved 2q34 02q34 p15 2019-08-02 2019-10-17 115482684 ENSG00000227430 OTTHUMG00000154661 NG_066037 21782046 PGOHUM00000240512 HGNC:43801 +HGNC:43802 H3P10 H3 histone pseudogene 10 pseudogene pseudogene Approved 3p24.2 03p24.2 p16 2019-08-02 2019-11-27 115482713 ENSG00000229421 OTTHUMG00000155597 NG_066058 21782046 PGOHUM00000237559 HGNC:43802 +HGNC:43803 H3P11 H3 histone pseudogene 11 pseudogene pseudogene Approved 3p23 03p23 p17 2019-08-02 2019-11-27 115482708 ENSG00000230111 OTTHUMG00000155813 NG_066055 21782046 PGOHUM00000237976 HGNC:43803 +HGNC:42873 H3P12 H3 histone pseudogene 12 pseudogene pseudogene Approved 3q13.13 03q13.13 p18 H3F3AP3 "H3 histone, family 3A pseudogene 3|H3 histone family member 3A pseudogene 3" 2011-09-13 2019-08-01 2019-08-01 2019-08-01 100689229 ENSG00000230618 OTTHUMG00000159215 NG_029983 21782046 PGOHUM00000250252 HGNC:42873 +HGNC:43804 H3P13 H3 histone pseudogene 13 pseudogene pseudogene Approved 3q26.33 03q26.33 p19 2019-08-02 2019-11-29 115482685 ENSG00000243977 OTTHUMG00000157785 NG_066038 21782046 PGOHUM00000237878 HGNC:43804 +HGNC:43805 H3P14 H3 histone pseudogene 14 pseudogene pseudogene Approved 4q25 04q25 p20 2019-08-02 2019-08-02 107986209 ENSG00000250966 OTTHUMG00000161133 XR_007058230 21782046 PGOHUM00000246035 HGNC:43805 +HGNC:54450 H3P15 H3 histone pseudogene 15 pseudogene pseudogene Approved 4q28.1 04q28.1 2019-08-02 2019-11-27 100419353 ENSG00000251005 OTTHUMG00000161148 NG_025160 PGOHUM00000299995 HGNC:54450 +HGNC:42982 H3P16 H3 histone pseudogene 16 pseudogene pseudogene Approved 4q31.1 04q31.1 "p21|H3.6" H3F3AP6 H3 histone, family 3A, pseudogene 6 2011-09-13 2019-08-01 2019-08-01 2021-08-04 644914 ENSG00000178458 OTTHUMG00000161274 NG_022939 21782046 HGNC:42982 +HGNC:54451 H3P17 H3 histone pseudogene 17 pseudogene pseudogene Approved 5p15.1 05p15.1 p23 2019-08-02 2020-02-05 115482694 ENSG00000248205 OTTHUMG00000161878 21782046 PGOHUM00000300504 +HGNC:54452 H3P18 H3 histone pseudogene 18 pseudogene pseudogene Approved 5p15.1 05p15.1 2019-08-02 2019-11-27 391744 ENSG00000249620 OTTHUMG00000161866 NG_030068 PGOHUM00000300505 +HGNC:54453 H3P19 H3 histone pseudogene 19 pseudogene pseudogene Approved 5p15.1 05p15.1 p24 2019-08-02 2019-11-27 115482709 ENSG00000271296 OTTHUMG00000184297 NG_066056 21782046 PGOHUM00000300511 HGNC:54453 +HGNC:54454 H3P20 H3 histone pseudogene 20 pseudogene pseudogene Approved 5p15.1 05p15.1 p58 2019-08-02 2019-11-27 100289141 ENSG00000250351 OTTHUMG00000161841 NG_030069 21782046 PGOHUM00000300512 HGNC:54454 +HGNC:54455 H3P21 H3 histone pseudogene 21 pseudogene pseudogene Approved 5p15.1 05p15.1 p01 2019-08-02 2019-11-27 391765 ENSG00000250386 OTTHUMG00000161842 NG_030070 21782046 PGOHUM00000300513 HGNC:54455 +HGNC:54456 H3P22 H3 histone pseudogene 22 pseudogene pseudogene Approved 5p15.1 05p15.1 p26 2019-08-02 2019-11-27 115482719 ENSG00000250715 OTTHUMG00000161846 NG_066063 21782046 PGOHUM00000300518 HGNC:54456 +HGNC:54457 H3P23 H3 histone pseudogene 23 pseudogene pseudogene Approved 5q14.3 05q14.3 p27 2019-08-02 2019-11-27 115482696 ENSG00000250705 OTTHUMG00000162633 NG_066044 21782046 PGOHUM00000301051 HGNC:54457 +HGNC:54458 H3P24 H3 histone pseudogene 24 pseudogene pseudogene Approved 5q22.3 05q22.3 p28 2019-08-02 2019-11-27 115482697 ENSG00000251118 OTTHUMG00000162915 NG_066045 21782046 PGOHUM00000301096 HGNC:54458 +HGNC:54459 H3P25 H3 histone pseudogene 25 pseudogene pseudogene Approved 5q31.2 05q31.2 2019-08-02 2019-11-27 115482720 ENSG00000275506 OTTHUMG00000187602 NG_066064 PGOHUM00000300772 HGNC:54459 +HGNC:4770 H3P26 H3 histone pseudogene 26 pseudogene pseudogene Approved 6p22.2 06p22.2 pH3/e "H3FEP|HIST1H1PS2" "H3 histone family, member E, pseudogene|histone 1, H1, pseudogene 2|histone cluster 1 H1 pseudogene 2" 1998-10-05 2019-08-01 2019-08-01 2019-11-27 10338 ENSG00000224447 OTTHUMG00000036301 X67080 NG_029342 9031620 HGNC:4770 +HGNC:54460 H3P27 H3 histone pseudogene 27 pseudogene pseudogene Approved 6q14.1 06q14.1 p59 2019-08-02 2019-11-27 115482698 ENSG00000220730 OTTHUMG00000015058 NG_066046 21782046 PGOHUM00000301857 HGNC:54460 +HGNC:54461 H3P28 H3 histone pseudogene 28 pseudogene pseudogene Approved 6q25.3 06q25.3 p40 2019-08-02 2019-11-27 115482699 ENSG00000220347 OTTHUMG00000015886 NG_066047 21782046 PGOHUM00000302005 HGNC:54461 +HGNC:54462 H3P29 H3 histone pseudogene 29 pseudogene pseudogene Approved 9p24.3 09p24.3 p41 2019-08-02 2019-11-27 115482721 ENSG00000228783 OTTHUMG00000019438 NG_066065 21782046 PGOHUM00000304076 HGNC:54462 +HGNC:54463 H3P30 H3 histone pseudogene 30 pseudogene pseudogene Approved 9p21.3 09p21.3 p42 2019-08-02 2019-11-27 115482700 ENSG00000227443 OTTHUMG00000019682 NG_066048 21782046 PGOHUM00000304128 HGNC:54463 +HGNC:54464 H3P31 H3 histone pseudogene 31 pseudogene pseudogene Approved 9p21.2 09p21.2 p43 2019-08-02 2019-11-27 115482710 ENSG00000232466 OTTHUMG00000019707 NG_068487 21782046 PGOHUM00000303758 +HGNC:54465 H3P32 H3 histone pseudogene 32 pseudogene pseudogene Approved 9q21.13 09q21.13 2019-08-02 2019-11-27 115482701 ENSG00000233814 OTTHUMG00000020042 NG_066049 PGOHUM00000304330 HGNC:54465 +HGNC:54466 H3P33 H3 histone pseudogene 33 pseudogene pseudogene Approved 11p15.3 11p15.3 p44 2019-08-02 2019-11-27 115482722 ENSG00000255492 OTTHUMG00000165686 NG_066066 21782046 PGOHUM00000290399 HGNC:54466 +HGNC:54467 H3P34 H3 histone pseudogene 34 pseudogene pseudogene Approved 11q14.3 11q14.3 2019-08-02 2019-08-02 115482702 ENSG00000255295 OTTHUMG00000167299 NG_068486 PGOHUM00000290629 +HGNC:54468 H3P35 H3 histone pseudogene 35 pseudogene pseudogene Approved 12q21.1 12q21.1 2019-08-02 2019-11-27 115482703 ENSG00000257287 OTTHUMG00000169679 NG_066050 PGOHUM00000291403 HGNC:54468 +HGNC:42030 H3P36 H3 histone pseudogene 36 pseudogene pseudogene Approved 13q21.33 13q21.33 p46 H3F3BP1 "H3 histone, family 3B (H3.3B) pseudogene 1|H3 histone, family 3B pseudogene 1" 2011-08-15 2019-08-01 2019-08-01 2019-11-27 100287087 ENSG00000236534 OTTHUMG00000017061 NG_029804 21782046 PGOHUM00000248627 HGNC:42030 +HGNC:19823 H3P37 H3 histone pseudogene 37 pseudogene pseudogene Approved 14q11.2 14q11.2 "H3F3CP|p47" H3F3AP2 "H3 histone, family 3A, pseudogene 2|H3 histone family member 3A pseudogene 2" 2006-02-24 2019-08-01 2019-08-01 2019-08-02 664611 ENSG00000270433 OTTHUMG00000184412 AL049829 NG_006445 21782046 HGNC:19823 +HGNC:31028 H3P38 H3 histone pseudogene 38 pseudogene pseudogene Approved 15q15.1 15q15.1 "HsT18159|p48" H3F3AP1 "H3 histone, family 3A, pseudogene 1|H3 histone family member 3A pseudogene 1" 2006-01-17 2019-08-01 2019-08-01 2019-08-01 654505 ENSG00000259389 OTTHUMG00000172418 AC025168 NG_006444 21782046 PGOHUM00000246752 HGNC:31028 +HGNC:54469 H3P39 H3 histone pseudogene 39 pseudogene pseudogene Approved 15q21.1 15q21.1 p49 2019-08-02 2019-11-27 115482707 ENSG00000259338 OTTHUMG00000172001 NG_066054 21782046 PGOHUM00000293230 HGNC:54469 +HGNC:54470 H3P40 H3 histone pseudogene 40 pseudogene pseudogene Approved 15q26.2 15q26.2 p50 2019-08-02 2019-11-27 115482723 ENSG00000258570 OTTHUMG00000171812 NG_066067 21782046 PGOHUM00000293368 HGNC:54470 +HGNC:42979 H3P41 H3 histone pseudogene 41 pseudogene pseudogene Approved 17q11.2 17q11.2 p51 H3F3BP2 "H3 histone, family 3B (H3.3B) pseudogene 2|H3 histone, family 3B pseudogene 2" 2011-09-13 2019-08-01 2019-08-01 2019-08-01 100420410 ENSG00000265541 OTTHUMG00000179306 NG_026234 21782046 PGOHUM00000263433 HGNC:42979 +HGNC:54471 H3P42 H3 histone pseudogene 42 pseudogene pseudogene Approved 17q23.2 17q23.2 p52 2019-08-02 2019-11-27 115482704 ENSG00000271626 OTTHUMG00000184886 NG_066051 21782046 PGOHUM00000294497 HGNC:54471 +HGNC:54472 H3P43 H3 histone pseudogene 43 pseudogene pseudogene Approved Xp21.3 Xp21.3 p54 2019-08-02 2019-11-27 100506811 ENSG00000226436 OTTHUMG00000021314 NG_030155 21782046 PGOHUM00000304542 HGNC:54472 +HGNC:42981 H3P44 H3 histone pseudogene 44 pseudogene pseudogene Approved Xp11.22 Xp11.22 "p55|H3.8" H3F3AP5 H3 histone, family 3A, pseudogene 5 2011-09-13 2019-08-01 2019-08-01 2021-08-04 347376 ENSG00000226881 OTTHUMG00000021523 NG_029840 "21782046|28374988" PGOHUM00000241754 HGNC:42981 +HGNC:54473 H3P45 H3 histone pseudogene 45 pseudogene pseudogene Approved Xq22.1 Xq22.1 p56 2019-08-02 2019-11-27 115482705 ENSG00000227211 OTTHUMG00000022057 NG_066052 21782046 PGOHUM00000304788 HGNC:54473 +HGNC:54474 H3P46 H3 histone pseudogene 46 pseudogene pseudogene Approved Xq24 Xq24 2019-08-02 2019-11-27 115482724 ENSG00000278317 OTTHUMG00000188071 NG_066068 PGOHUM00000304824 HGNC:54474 +HGNC:54475 H3P47 H3 histone pseudogene 47 pseudogene pseudogene Approved Xq25 Xq25 p57 2019-08-02 2019-11-27 115482706 ENSG00000179101 OTTHUMG00000022327 NG_066053 21782046 PGOHUM00000305295 HGNC:54475 +HGNC:43735 H3Y1 H3.Y histone 1 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "H3.Y|H3.Y.1" H3 histones 1938 2019-08-01 2019-08-01 391769 ENSG00000269466 OTTHUMG00000161844 NM_001355258 CCDS87290 P0DPK2 "20819935|28334823" PGOHUM00000251294 HGNC:43735 "ENST00000598383.3|NM_001355258.2" +HGNC:43734 H3Y2 H3.Y histone 2 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "H3.X|H3.Y.2" H3 histones 1938 2019-08-01 2021-10-06 340096 ENSG00000268799 OTTHUMG00000161874 NM_001371919 P0DPK5 20819935 PGOHUM00000251286 HGNC:43734 "ENST00000600799.3|NM_001371919.1" +HGNC:20510 H4-16 H4 histone 16 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 MGC24116 HIST4H4 "histone 4, H4|histone cluster 4, H4|histone cluster 4 H4" H4 histones 1939 2003-02-20 2019-07-24 2019-07-24 2020-07-31 121504 ENSG00000197837 OTTHUMG00000168735 uc001rcf.5 AY128653 NM_175054 CCDS8665 P62805 12408966 MGI:2448443 RGD:1596791 615069 HGNC:20510 "ENST00000539745.2|NM_175054.2" +HGNC:4781 H4C1 H4 clustered histone 1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H4FA|HIST1H4A" "H4 histone family, member A|histone 1, H4a|histone cluster 1, H4a|histone cluster 1 H4 family member a" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2019-07-24 8359 ENSG00000278637 OTTHUMG00000014419 uc003nfq.4 X60481 NM_003538 CCDS4571 P62805 "9119399|12408966" RGD:1306905 602822 HGNC:4781 "ENST00000617569.2|NM_003538.4" +HGNC:4789 H4C2 H4 clustered histone 2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H4/I "H4FI|HIST1H4B" "H4 histone family, member I|histone 1, H4b|histone cluster 1, H4b|histone cluster 1 H4 family member b" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2021-05-26 8366 ENSG00000278705 OTTHUMG00000014417 uc003nfr.4 X67081 NM_003544 CCDS4572 P62805 "9119399|12408966" RGD:1307448 602829 470456 HGNC:4789 "ENST00000377745.5|NM_003544.3" +HGNC:4787 H4C3 H4 clustered histone 3 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H4/g|dJ221C16.1" "H4FG|HIST1H4C" "H4 histone family, member G|histone 1, H4c|histone cluster 1, H4c|histone cluster 1 H4 family member c" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2021-05-26 8364 ENSG00000197061 OTTHUMG00000014429 uc003ngi.4 X60486 NM_003542 CCDS4583 P62805 "9119399|12408966" 602827 HGNC:4787 "ENST00000377803.4|NM_003542.4" +HGNC:4782 H4C4 H4 clustered histone 4 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H4/b "H4FB|HIST1H4D" "H4 histone family, member B|histone 1, H4d|histone cluster 1, H4d|histone cluster 1 H4 family member d" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2019-07-24 8360 ENSG00000277157 OTTHUMG00000014423 uc003ngu.4 X60482 NM_003539 CCDS4589 P62805 "9119399|12408966" RGD:1565073 602823 HGNC:4782 "ENST00000614247.2|NM_003539.4" +HGNC:4790 H4C5 H4 clustered histone 5 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H4/j "H4FJ|HIST1H4E" "H4 histone family, member J|histone 1, H4e|histone cluster 1, H4e|histone cluster 1 H4 family member e" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2019-07-24 8367 ENSG00000276966 OTTHUMG00000014441 uc003ngy.5 Z80787 NM_003545 CCDS4593 P62805 "9119399|12408966" 602830 HGNC:4790 "ENST00000615164.3|NM_003545.4" +HGNC:4783 H4C6 H4 clustered histone 6 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "H4/c|H4" "H4FC|HIST1H4F" "H4 histone family, member C|histone 1, H4f|histone cluster 1, H4f|histone cluster 1 H4 family member f" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2019-07-24 8361 ENSG00000274618 OTTHUMG00000014443 uc003nhe.2 M60749 NM_003540 CCDS4598 P62805 "1916825|9119399|12408966" RGD:7725170 602824 HGNC:4783 "ENST00000244537.6|NM_003540.4" +HGNC:4792 H4C7 H4 clustered histone 7 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H4/l "H4FL|HIST1H4G" "H4 histone family, member L|histone 1, H4g|histone cluster 1, H4g|histone cluster 1 H4 family member g" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2021-10-04 8369 ENSG00000275663 OTTHUMG00000014444 uc003nhf.4 Z80788 NM_003547 CCDS4599 Q99525 "9119399|12408966" 602832 HGNC:4792 "ENST00000611444.2|NM_003547.3" +HGNC:4788 H4C8 H4 clustered histone 8 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 H4/h "H4FH|HIST1H4H" "H4 histone family, member H|histone 1, H4h|histone cluster 1, H4h|histone cluster 1 H4 family member h" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2019-07-24 8365 ENSG00000158406 OTTHUMG00000014454 uc284pyh.1 X60487 NM_003543 CCDS4604 P62805 "9119399|12408966" 602828 HGNC:4788 "ENST00000377727.2|NM_003543.4" +HGNC:4793 H4C9 H4 clustered histone 9 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 H4/m "H4FM|HIST1H4I" "H4 histone family, member M|histone 1, H4i|histone cluster 1, H4i|histone cluster 1 H4 family member i" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2019-07-24 8294 ENSG00000276180 OTTHUMG00000014471 uc003niy.2 AB000905 NM_003495 CCDS4620 P62805 "8988030|9439656|12408966" RGD:620814 602833 HGNC:4793 "ENST00000615353.2|NM_003495.3" +HGNC:4786 H4C10P H4 clustered histone 10, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "pH4/f|dJ97D16.3" "H4FFP|HIST1H4PS1" "H4 histone family, member F, pseudogene|histone 1, H4, pseudogene 1|histone cluster 1, H4, pseudogene 1|histone cluster 1 H4 pseudogene 1" H4 histones 1939 1998-10-05 2019-07-24 2019-07-24 2019-11-27 10337 ENSG00000217862 OTTHUMG00000016429 X60485 NG_029323 9439656 HGNC:4786 +HGNC:4785 H4C11 H4 clustered histone 11 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H4/e|H4F2iv" "H4FE|HIST1H4J" "H4 histone family, member E|histone 1, H4j|histone cluster 1, H4j|histone cluster 1 H4 family member j" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2021-05-26 8363 ENSG00000197238 OTTHUMG00000014487 uc003njp.4 J00188 NM_021968 CCDS4630 P62805 "6265100|9439656|12408966" 602826 HGNC:4785 "ENST00000355057.3|NM_021968.4" +HGNC:4784 H4C12 H4 clustered histone 12 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H4/d|H4F2iii|dJ160A22.1" "H4FD|HIST1H4K" "H4 histone family, member D|histone 1, H4k|histone cluster 1, H4k|histone cluster 1 H4 family member k" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2019-07-24 8362 ENSG00000273542 OTTHUMG00000014488 uc003njr.4 X60483 NM_003541 CCDS4631 P62805 "9439656|12408966" MGI:2448443 RGD:7529415 602825 HGNC:4784 "ENST00000611927.2|NM_003541.3" +HGNC:4791 H4C13 H4 clustered histone 13 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "H4.k|H4/k" "H4FK|HIST1H4L" "H4 histone family, member K|histone 1, H4l|histone cluster 1, H4l|histone cluster 1 H4 family member l" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2019-07-24 8368 ENSG00000275126 OTTHUMG00000016211 uc003njz.4 X83548 NM_003546 CCDS4637 P62805 "9031620|9439656|12408966" 602831 HGNC:4791 "ENST00000618305.2|NM_003546.3" +HGNC:4794 H4C14 H4 clustered histone 14 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "H4F2|H4FN|HIST2H4|H4/n|HIST2H4A" "H4 histone, family 2|histone 2, H4|histone 2, H4a|histone cluster 2, H4a|histone cluster 2 H4 family member a" H4 histones 1939 1998-09-07 2019-07-24 2019-07-24 2019-07-24 8370 ENSG00000270882 OTTHUMG00000012189 uc001ess.4 M16707 NM_003548 CCDS30847 P62805 "3035717|6314274|15527963" RGD:1562378 142750 HGNC:4794 "ENST00000578186.3|NM_003548.2" +HGNC:29607 H4C15 H4 clustered histone 15 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 H4/o HIST2H4B "histone 2, H4b|histone cluster 2, H4b|histone cluster 2 H4 family member b" H4 histones 1939 2006-06-12 2019-07-24 2019-07-24 2019-07-24 554313 ENSG00000270276 OTTHUMG00000188201 uc001etb.4 BC108260 NM_001034077 CCDS30851 P62805 15527963 MGI:2448441 RGD:6487551 HGNC:29607 "ENST00000579512.3|NM_001034077.4" +HGNC:54447 H4P1 H4 histone pseudogene 1 pseudogene pseudogene Approved 7q32.3 07q32.3 2019-08-02 2019-11-27 115482692 ENSG00000240680 OTTHUMG00000155003 NG_068485 PGOHUM00000302426 +HGNC:4795 H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase protein-coding gene gene with protein product Approved 1p36.22 01p36.22 H6PDH "GDH/6PGL endoplasmic bifunctional protein|6-phosphogluconolactonase" GDH "glucose dehyrogenase|hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)" 1999-11-26 2016-04-05 2019-08-22 9563 ENSG00000049239 OTTHUMG00000001768 uc001apt.4 AJ012590 NM_004285 "CCDS72697|CCDS101" O95479 10349511 MGI:2140356 RGD:1306562 138090 173203 1.1.1.47 HGNC:4795 "ENST00000377403.7|NM_004285.4" HGNC:4795 +HGNC:4713 H19 H19 imprinted maternally expressed transcript non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 "D11S813E|ASM|ASM1|NCRNA00008|LINC00008|MIR675HG" "non-protein coding RNA 8|long intergenic non-protein coding RNA 8|MIR675 host gene|adult skeletal muscle" "H19, imprinted maternally expressed untranslated mRNA|H19, imprinted maternally expressed transcript (non-protein coding)" "MicroRNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1992" 1999-04-15 2019-01-21 2022-04-01 283120 ENSG00000130600 OTTHUMG00000012477 uc057xvv.1 AF087017 NR_002196 "2595451|1688465" MGI:95891 LRG_1030|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1030.xml 103280 123340 H19 H19 HGNC:4713 HGNC:4713 +HGNC:4796 HAAO 3-hydroxyanthranilate 3,4-dioxygenase protein-coding gene gene with protein product Approved 2p21 02p21 1999-12-14 2018-03-26 23498 ENSG00000162882 OTTHUMG00000152348 uc002rst.5 Z29481 NM_012205 CCDS33187 P46952 "7514594|28792876" MGI:1349444 RGD:71071 604521 1.13.11.6 HGNC:4796 "ENST00000294973.11|NM_012205.3" HGNC:4796 +HGNC:4798 HABP2 hyaluronan binding protein 2 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "HABP|PHBP|HGFAL|FSAP" "plasma hyaluronan binding protein|factor VII activating protein" hyaluronan-binding protein 2 1996-11-15 2001-11-28 2014-11-19 3026 ENSG00000148702 OTTHUMG00000019073 uc001lai.5 NM_004132 "CCDS7577|CCDS53579" Q14520 "8827452|12437095" MGI:1196378 RGD:1302979 603924 437465 S01.033 HGNC:4798 "ENST00000351270.4|NM_004132.5" +HGNC:17062 HABP4 hyaluronan binding protein 4 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "IHABP4|SERBP1L" 2002-06-11 2016-10-05 22927 ENSG00000130956 OTTHUMG00000020298 uc010msg.5 AF241831 NM_014282 CCDS6719 Q5JVS0 "9523163|10887182" MGI:1891713 RGD:1306486 617369 HGNC:17062 "ENST00000375249.5|NM_014282.4" +HGNC:9639 HACD1 3-hydroxyacyl-CoA dehydratase 1 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 CAP "cementum attachment protein|Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1" PTPLA "protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a|protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A" 3-hydroxyacyl-CoA dehydratase family 2025 1999-01-22 2015-01-27 2015-01-27 2021-05-26 9200 ENSG00000165996 OTTHUMG00000017750 AF114494 NM_014241 CCDS7121 B0YJ81 "10644438|18554506|23933735" MGI:1353592 RGD:1595507 610467 377040 4.2.1.134 HGNC:9639 "ENST00000361271.8|NM_014241.4" HGNC:9639 +HGNC:9640 HACD2 3-hydroxyacyl-CoA dehydratase 2 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 PTPLB protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b 3-hydroxyacyl-CoA dehydratase family 2025 1999-01-22 2015-01-27 2015-01-27 2016-01-15 201562 ENSG00000206527 OTTHUMG00000159529 AK074605 NM_198402 CCDS46895 Q6Y1H2 "15024066|18554506" MGI:1918007 RGD:1306337 615939 4.2.1.134 HGNC:9640 "ENST00000383657.10|NM_198402.5" +HGNC:24175 HACD3 3-hydroxyacyl-CoA dehydratase 3 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "B-ind1|HSPC121" Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 PTPLAD1 protein tyrosine phosphatase-like A domain containing 1 3-hydroxyacyl-CoA dehydratase family 2025 2005-11-11 2015-01-27 2015-01-27 2016-01-15 51495 ENSG00000074696 OTTHUMG00000172658 NM_016395 CCDS45282 Q9P035 "10747961|11042152|18554506" MGI:1889341 RGD:1565496 615940 4.2.1.134 HGNC:24175 "ENST00000261875.10|NM_016395.4" +HGNC:20920 HACD4 3-hydroxyacyl-CoA dehydratase 4 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "Em:AL662879.1|OTTHUMG00000021016" Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4 PTPLAD2 protein tyrosine phosphatase-like A domain containing 2 3-hydroxyacyl-CoA dehydratase family 2025 2005-11-11 2015-01-27 2015-01-27 2016-01-15 401494 ENSG00000188921 OTTHUMG00000021016 NM_001010915 CCDS43791 Q5VWC8 18554506 MGI:1914025 RGD:1310339 615941 4.2.1.134 HGNC:20920 "ENST00000495827.3|NM_001010915.5" +HGNC:21033 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 6q16.3 06q16.3 KIAA1320 "Ankyrin repeat domain containing|HECT domain containing" "403|1959" 2003-05-07 2012-02-23 2021-05-26 57531 ENSG00000085382 OTTHUMG00000015287 uc003pqu.1 BC034982 NM_020771 CCDS5050 Q8IYU2 10718198 MGI:2446110 RGD:1306114 610876 315421 HGNC:21033 "ENST00000262903.9|NM_020771.4" HGNC:21033 +HGNC:17856 HACL1 2-hydroxyacyl-CoA lyase 1 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "2-HPCL|PHYH2" HPCL 2-hydroxyphytanoyl-CoA lyase 2006-01-09 2006-05-16 2006-05-16 2016-10-05 26061 ENSG00000131373 OTTHUMG00000129862 uc062hdf.1 AJ131753 NM_012260 "CCDS68360|CCDS2627|CCDS68361|CCDS68362" Q9UJ83 "10468558|15644336" MGI:1929657 RGD:619849 604300 4.1.-.- HGNC:17856 "ENST00000321169.10|NM_012260.4" +HGNC:4799 HADH hydroxyacyl-CoA dehydrogenase protein-coding gene gene with protein product Approved 4q25 04q25 "HADH1|SCHAD" HADHSC "L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain|hydroxyacyl-Coenzyme A dehydrogenase" 2001-06-22 2010-04-30 2021-05-26 3033 ENSG00000138796 OTTHUMG00000131810 uc003hyq.4 X96752 NM_005327 "CCDS82943|CCDS3678|CCDS54790" Q16836 "975867|16176262" MGI:96009 RGD:69321 601609 122356 1.1.1.35 HGNC:4799 "ENST00000309522.8|NM_005327.7" HGNC:4799 +HGNC:4801 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "GBP|LCEH|LCHAD|MTPA" "gastrin-binding protein|long-chain-3-hydroxyacyl-CoA dehydrogenase|long-chain 2-enoyl-CoA hydratase|mitochondrial trifunctional protein, alpha subunit" "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit" 1994-12-16 2017-09-15 2021-04-13 3030 ENSG00000084754 OTTHUMG00000096979 uc002rgy.3 D16480 NM_000182 CCDS1721 P40939 "9605857|7918661" MGI:2135593 RGD:620512 LRG_747|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_747.xml 600890 138233 "1.1.1.211|4.2.1.17" HGNC:4801 "ENST00000380649.8|NM_000182.5" HGNC:4801 +HGNC:4802 HADHAP1 HADHA pseudogene 1 pseudogene pseudogene Approved 4q32.3 04q32.3 HADHAP "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase pseudogene (gastrin binding protein pseudogene)|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase pseudogene (gastrin binding protein pseudogene)" 1994-12-16 2010-03-19 2019-01-21 2019-01-21 3031 ENSG00000251596 OTTHUMG00000161127 U04628 NG_000863 7918661 PGOHUM00000245761 HGNC:4802 +HGNC:38585 HADHAP2 HADHA pseudogene 2 pseudogene pseudogene Approved 12p13.31 12p13.31 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 2 2010-06-21 2019-01-21 2019-01-21 399994 ENSG00000255967 OTTHUMG00000168721 NG_005587 PGOHUM00000291530 HGNC:38585 +HGNC:4803 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta protein-coding gene gene with protein product Approved 2p23.3 02p23.3 MTPB mitochondrial trifunctional protein, beta subunit "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit|hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit" 1994-12-16 2017-09-15 2021-05-26 3032 ENSG00000138029 OTTHUMG00000096978 uc002rgz.4 NM_000183 "CCDS1722|CCDS62872|CCDS62871" P55084 9605857 MGI:2136381 RGD:620513 143450 138829 2.3.1.16 HGNC:4803 "ENST00000317799.10|NM_000183.3" HGNC:4803 +HGNC:54887 HADHBP1 HADHB pseudogene 1 pseudogene pseudogene Approved Xp22.32 Xp22.32 2020-04-17 2020-04-17 100287928 ENSG00000238193 NG_022579 +HGNC:4805 HAGH hydroxyacylglutathione hydrolase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "GLO2|GLXII|HAGH1" hydroxyacyl glutathione hydrolase MBL domain containing glyoxalase 2 subfamily 1614 2001-06-22 2003-11-04 2015-08-25 3029 ENSG00000063854 OTTHUMG00000128662 uc002cna.4 X90999 NM_005326 "CCDS32366|CCDS10447|CCDS66900|CCDS86494" Q16775 "3025077|7327557" MGI:95745 RGD:2779 138760 3.1.2.6 HGNC:4805 "ENST00000397356.8|NM_005326.6" +HGNC:14177 HAGHL hydroxyacylglutathione hydrolase like protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC2605 hydroxyacyl glutathione hydrolase-like MBL domain containing glyoxalase 2 subfamily 1614 2000-12-21 2017-06-13 2020-03-31 84264 ENSG00000103253 OTTHUMG00000170560 uc002cjo.2 AK054841 NM_032304 CCDS32354 Q6PII5 12477932 MGI:1919877 RGD:1308042 HGNC:14177 "ENST00000389703.8|NM_032304.4" +HGNC:43755 HAGLR HOXD antisense growth-associated long non-coding RNA non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 "Mdgt|MIR7704HG" MIR7704 host gene HOXD-AS1 "HOXD cluster antisense RNA 1 (non-protein coding)|HOXD cluster antisense RNA 1" Long non-coding RNAs with non-systematic symbols 1992 2012-02-18 2014-05-20 2014-05-20 2018-12-11 401022 ENSG00000224189 OTTHUMG00000154172 BC030713 NR_033979 "24381249|24555823|30203035" 618209 HAGLR HGNC:43755 +HGNC:50646 HAGLROS HAGLR opposite strand lncRNA non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 HAGLR opposite strand (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-06-12 2018-05-16 2019-06-19 102800310 ENSG00000226363 OTTHUMG00000154176 "BE798911|AA780126" NR_110457 31197441 HAGLROS HGNC:50646 +HGNC:4806 HAL histidine ammonia-lyase protein-coding gene gene with protein product Approved 12q23.1 12q23.1 HIS 1988-08-31 2016-01-15 3034 ENSG00000084110 OTTHUMG00000170354 uc001tem.2 NM_001258333 "CCDS9058|CCDS58264|CCDS58265" P42357 MGI:96010 RGD:68363 609457 122361 4.3.1.3 HGNC:4806 "ENST00000261208.8|NM_002108.4" HGNC:4806 +HGNC:15598 HAMP hepcidin antimicrobial peptide protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "LEAP-1|HEPC|HFE2B|LEAP1" 2001-05-29 2021-05-26 57817 ENSG00000105697 OTTHUMG00000183295 uc002nyw.4 AF309489 NM_021175 CCDS12454 P81172 "11034317|11113132" MGI:1933533 RGD:70971 LRG_791|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_791.xml 606464 122364 ligandId:5378 HGNC:15598 "ENST00000222304.5|NM_021175.4" HGNC:15598 +HGNC:4807 HAND1 heart and neural crest derivatives expressed 1 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "eHand|Thing1|Hxt|bHLHa27" Basic helix-loop-helix proteins 420 1999-05-17 2016-10-05 9421 ENSG00000113196 OTTHUMG00000130193 uc003lvn.3 AF061756 NM_004821 CCDS4327 O96004 "9337404|9931445" MGI:103577 RGD:621206 602406 470428 HGNC:4807 "ENST00000231121.3|NM_004821.3" +HGNC:4808 HAND2 heart and neural crest derivatives expressed 2 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 "dHand|Thing2|Hed|bHLHa26" Basic helix-loop-helix proteins 420 1999-05-17 2015-08-25 9464 ENSG00000164107 OTTHUMG00000160775 uc003ith.2 AF087941 NM_021973 CCDS3819 P61296 9878849 MGI:103580 RGD:621207 602407 470430 HGNC:4808 "ENST00000359562.4|NM_021973.3" HGNC:4808 +HGNC:48872 HAND2-AS1 HAND2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 "DEIN|NBLA00301|FLJ11539" "neuroblastoma transcript 301|differentially expressed in neuroblastoma" HAND2 antisense RNA 1 (head to head) Antisense RNAs 1987 2013-07-11 2018-03-22 2018-03-22 79804 ENSG00000237125 OTTHUMG00000160783 NR_136192 "18171985|19348682|28194035" 617240 HAND2-AS1 HGNC:48872 +HGNC:4809 HAO1 hydroxyacid oxidase 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 GOX glycolate oxidase 1 GOX1 hydroxyacid oxidase (glycolate oxidase) 1 1999-09-09 2016-03-17 2016-10-05 54363 ENSG00000101323 OTTHUMG00000031841 uc002wmw.2 AL021879 NM_017545 CCDS13100 Q9UJM8 9891009 MGI:96011 RGD:1589750 605023 1.1.3.15 HGNC:4809 "ENST00000378789.4|NM_017545.3" +HGNC:4810 HAO2 hydroxyacid oxidase 2 protein-coding gene gene with protein product Approved 1p12 01p12 "HAOX2|GIG16" "(S)-2-hydroxy-acid oxidase|glycolate oxidase|long-chain L-2-hydroxy acid oxidase|growth-inhibiting protein 16" hydroxyacid oxidase 2 (long chain) 2000-07-31 2016-03-17 2016-03-17 51179 ENSG00000116882 OTTHUMG00000012410 uc001ehq.1 AF231917 NM_001005783 "CCDS901|CCDS76196" Q9NYQ3 10777549 MGI:96012 RGD:70972 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HAO2 605176 1.1.3.15 HGNC:4810 "ENST00000325945.4|NM_016527.4" +HGNC:41342 HAO2-IT1 HAO2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p12 01p12 HAO2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874270 ENSG00000230921 OTTHUMG00000012520 uc031unr.2 NR_046780 HAO2-IT1 HGNC:41342 +HGNC:4812 HAP1 huntingtin associated protein 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "HLP|hHLP1|HIP5" neuroan 1 HAP2 huntingtin-associated protein 1 1999-04-28 2016-06-30 2016-10-05 9001 ENSG00000173805 OTTHUMG00000133498 uc002hxn.2 AF040723 NM_003949 "CCDS42338|CCDS11406|CCDS42339" P54257 "7477378|9668110" MGI:1261831 RGD:68327 600947 HGNC:4812 "ENST00000347901.9|NM_177977.3" +HGNC:2380 HAPLN1 hyaluronan and proteoglycan link protein 1 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "Cartilage link protein|hyaluronan and proteoglycan link protein 1" CRTL1 cartilage linking protein 1 V-set domain containing 590 1990-03-14 2004-03-17 2004-03-16 2014-11-19 1404 ENSG00000145681 OTTHUMG00000119045 uc003kin.4 NM_001884 CCDS4061 P10915 "2286376|2320422" MGI:1337006 RGD:2412 115435 HGNC:2380 "ENST00000274341.9|NM_001884.4" +HGNC:17410 HAPLN2 hyaluronan and proteoglycan link protein 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 BRAL1 brain link protein 1 V-set domain containing 590 2004-03-11 2014-11-19 60484 ENSG00000132702 OTTHUMG00000033205 uc001fpn.1 AB049054 NM_021817 CCDS1148 Q9GZV7 "11027579|11873941" MGI:2137300 RGD:621854 619726 HGNC:17410 "ENST00000255039.6|NM_021817.3" +HGNC:21446 HAPLN3 hyaluronan and proteoglycan link protein 3 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 HsT19883 EXLD1 extracellular link domain containing, 1 V-set domain containing 590 2004-03-11 2014-11-19 145864 ENSG00000140511 OTTHUMG00000148680 uc002bnc.4 AY262759 NM_178232 "CCDS10346|CCDS76790" Q96S86 12663660 MGI:1914916 RGD:1308098 HGNC:21446 "ENST00000359595.8|NM_178232.4" +HGNC:31357 HAPLN4 hyaluronan and proteoglycan link protein 4 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "BRAL2|KIAA1926" brain link protein 2 V-set domain containing 590 2004-03-11 2016-10-06 404037 ENSG00000187664 OTTHUMG00000182221 uc002nmb.5 AB107883 NM_023002 CCDS12398 Q86UW8 12663660 MGI:2679531 RGD:1308408 619710 HGNC:31357 "ENST00000291481.8|NM_023002.3" +HGNC:33117 HAR1A highly accelerated region 1A non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 "HAR1F|NCRNA00064|LINC00064" "human accelerated region 1, forward|non-protein coding RNA 64|long intergenic non-protein coding RNA 64" "highly accelerated region 1A (non-protein-coding RNA)|highly accelerated region 1A (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2006-10-03 2018-05-16 2018-05-16 768096 ENSG00000225978 OTTHUMG00000140136 uc002yef.2 "DQ860409|BC035016|BC047717" NR_003244 16915236 610556 HAR1A HAR1A HGNC:33117 +HGNC:33118 HAR1B highly accelerated region 1B non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 "HAR1R|NCRNA00065|LINC00065" "human accelerated region 1, reverse|non-protein coding RNA 65|long intergenic non-protein coding RNA 65" "highly accelerated region 1B (non-protein-coding RNA)|highly accelerated region 1B (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2006-10-03 2018-05-16 2018-05-16 768097 ENSG00000231133 OTTHUMG00000140135 uc031run.1 "DQ860410|DQ860411" NR_003245 16915236 610557 HAR1B HAR1B HGNC:33118 +HGNC:26522 HARBI1 harbinger transposase derived 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 FLJ32675 C11orf77 chromosome 11 open reading frame 77 DNA transposon derived genes 1415 2006-05-10 2008-07-01 2008-07-01 2014-11-19 283254 ENSG00000180423 OTTHUMG00000166537 uc001ncy.4 AK057237 NM_173811 CCDS7920 Q96MB7 "15169610|18339812" MGI:2443194 RGD:1584007 615086 HGNC:26522 "ENST00000326737.3|NM_173811.4" +HGNC:4816 HARS1 histidyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 HisRS "histidine tRNA ligase 1, cytoplasmic|Jo‐1 antigen" "USH3B|HARS" "Usher syndrome 3B|histidyl-tRNA synthetase" Aminoacyl tRNA synthetases, Class II 132 2001-06-22 2019-07-15 2019-07-15 2021-05-26 3035 ENSG00000170445 OTTHUMG00000129502 uc003lgv.6 AK000498 NM_002109 "CCDS75324|CCDS58977|CCDS58976|CCDS4237|CCDS75323|CCDS58978" P12081 22279524 MGI:108087 RGD:1310695 LRG_1374|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1374.xml 142810 303807 6.1.1.21 HGNC:4816 "ENST00000504156.7|NM_002109.6" HGNC:4816 +HGNC:4817 HARS2 histidyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "HO3|HARSR" histidine tRNA ligase 2, mitochondrial (putative) HARSL histidyl-tRNA synthetase-like Aminoacyl tRNA synthetases, Class II 132 2000-03-29 2007-02-23 2016-03-14 2021-05-26 23438 ENSG00000112855 OTTHUMG00000129500 uc003lgx.5 U18937 NM_012208 "CCDS87330|CCDS64267|CCDS4238|CCDS87329" P49590 "7755634|21464306" MGI:1918041 RGD:1308426 LRG_1376|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1376.xml 600783 268052 6.1.1.21 HGNC:4817 "ENST00000230771.9|NM_012208.4" HGNC:4817 +HGNC:4818 HAS1 hyaluronan synthase 1 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 HAS Glycosyltransferase family 2 428 1996-04-12 2016-10-05 3036 ENSG00000105509 OTTHUMG00000183499 uc002pxo.1 U59269 NM_001523 "CCDS74436|CCDS12838" Q92839 9169154 MGI:106590 RGD:708528 601463 2.4.1.212 HGNC:4818 "ENST00000540069.7|NM_001297436.2" +HGNC:4819 HAS2 hyaluronan synthase 2 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 Glycosyltransferase family 2 428 1996-10-18 2016-10-05 3037 ENSG00000170961 OTTHUMG00000164953 uc003yph.3 U54804 NM_005328 CCDS6335 Q92819 9169154 MGI:107821 RGD:2781 601636 2.4.1.212 HGNC:4819 "ENST00000303924.5|NM_005328.3" +HGNC:34340 HAS2-AS1 HAS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 "HASNT|NCRNA00077" non-protein coding RNA 77 "HAS2AS|HAS2-AS" "hyaluronan synthase 2 antisense|HAS2 antisense RNA (non-protein coding)|HAS2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-06-20 2010-11-25 2012-08-15 2018-08-22 594842 ENSG00000248690 OTTHUMG00000164965 uc022baf.2 AY941178 NR_002835 "21357421|28485478" 614353 HAS2-AS1 HGNC:34340 +HGNC:4820 HAS3 hyaluronan synthase 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 Glycosyltransferase family 2 428 1996-10-18 2015-09-11 3038 ENSG00000103044 OTTHUMG00000137562 uc002ewl.4 BC021853 NM_138612 "CCDS10871|CCDS10870" O00219 "9169154|9083017" MGI:109599 RGD:628656 602428 2.4.1.212 HGNC:4820 "ENST00000569188.6|NM_001199280.2" +HGNC:19682 HASPIN histone H3 associated protein kinase protein-coding gene gene with protein product Approved 17p13.2 17p13.2 GSG2 germ cell associated 2 (haspin) 2005-01-19 2017-05-17 2017-05-18 2017-05-18 83903 ENSG00000177602 OTTHUMG00000090703 uc002fwp.4 AB039834 NM_031965 CCDS11036 Q8TF76 28413956 MGI:1194498 RGD:1596276 609240 objectId:2028 HGNC:19682 "ENST00000325418.5|NM_031965.2" +HGNC:4821 HAT1 histone acetyltransferase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 KAT1 Lysine acetyltransferases 486 1998-10-13 2016-10-05 8520 ENSG00000128708 OTTHUMG00000132282 uc002uhi.4 AF030424 NM_003642 CCDS2245 O14929 9427644 MGI:96013 RGD:1305716 603053 objectId:2657 2.3.1.48 HGNC:4821 "ENST00000264108.5|NM_003642.4" +HGNC:25174 HAUS1 HAUS augmin like complex subunit 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "HEI-C|HsT1461|FLJ40084" CCDC5 coiled-coil domain containing 5 (spindle associated) HAUS augmin like complex 581 2004-01-12 2009-04-20 2015-11-09 2015-11-09 115106 ENSG00000152240 OTTHUMG00000132638 uc002lbu.3 AY360137 NM_138443 CCDS11928 Q96CS2 19427217 MGI:2385076 RGD:619909 608775 HGNC:25174 "ENST00000282058.11|NM_138443.4" +HGNC:43760 HAUS1P1 HAUS augmin like complex subunit 1 pseudogene 1 pseudogene pseudogene Approved 5q31.3 05q31.3 2012-02-22 2015-11-09 2015-11-09 728921 ENSG00000251453 OTTHUMG00000163364 NG_009848 PGOHUM00000235776 HGNC:43760 +HGNC:43761 HAUS1P2 HAUS augmin like complex subunit 1 pseudogene 2 pseudogene pseudogene Approved Xp22.13 Xp22.13 2012-02-22 2015-11-09 2015-11-09 441484 ENSG00000224224 OTTHUMG00000021221 NG_009849 PGOHUM00000241659 HGNC:43761 +HGNC:43762 HAUS1P3 HAUS augmin like complex subunit 1 pseudogene 3 pseudogene pseudogene Approved 8q21.11 08q21.11 2012-02-22 2015-11-09 2016-10-05 100271703 ENSG00000253226 OTTHUMG00000164623 NG_009850 PGOHUM00000249386 HGNC:43762 +HGNC:25530 HAUS2 HAUS augmin like complex subunit 2 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 "FLJ10460|HsT17025" "C15orf25|CEP27" "chromosome 15 open reading frame 25|centrosomal protein 27kDa" HAUS augmin like complex 581 2004-06-29 2009-04-20 2015-11-09 2016-10-05 55142 ENSG00000137814 OTTHUMG00000130678 uc001zqe.4 AK001322 NM_018097 "CCDS45247|CCDS10090|CCDS81867" Q9NVX0 "14702039|14654843|19427217" MGI:1913546 RGD:1593362 613429 HGNC:25530 "ENST00000260372.8|NM_018097.3" +HGNC:28719 HAUS3 HAUS augmin like complex subunit 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "MGC4701|IT1|dgt3" C4orf15 chromosome 4 open reading frame 15 HAUS augmin like complex 581 2004-04-21 2009-04-20 2015-11-09 2016-10-25 79441 ENSG00000214367 OTTHUMG00000159805 uc003ges.2 AF040964 NM_024511 CCDS33941 Q68CZ6 "19427217|19812674" MGI:2387633 RGD:1591723 613430 HGNC:28719 "ENST00000443786.3|NM_001303143.2" +HGNC:20163 HAUS4 HAUS augmin like complex subunit 4 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ20424 C14orf94 chromosome 14 open reading frame 94 "HAUS augmin like complex |MicroRNA protein coding host genes" "581|1691" 2002-12-19 2009-04-20 2015-11-09 2016-10-05 54930 ENSG00000092036 OTTHUMG00000028710 uc001wht.4 AK000431 NM_001166269 "CCDS9580|CCDS53886" Q9H6D7 19427217 MGI:1261794 RGD:1305288 613431 HGNC:20163 "ENST00000541587.6|NM_001166269.2" +HGNC:43763 HAUS4P1 HAUS augmin like complex subunit 4 pseudogene 1 pseudogene pseudogene Approved 1q24.2 01q24.2 2012-02-22 2015-11-09 2015-11-09 100129402 ENSG00000226967 OTTHUMG00000034663 NG_013098 PGOHUM00000244329 HGNC:43763 +HGNC:29130 HAUS5 HAUS augmin like complex subunit 5 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 dgt5 KIAA0841 KIAA0841 HAUS augmin like complex 581 2004-02-09 2009-04-20 2015-11-09 2015-11-09 23354 ENSG00000249115 OTTHUMG00000048110 uc002oam.2 AB020648 NM_015302 CCDS42550 O94927 "10048485|19427217" MGI:1919159 RGD:2318093 613432 HGNC:29130 "ENST00000203166.10|NM_015302.2" +HGNC:55291 HAUS5-DT HAUS5 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Divergent transcripts 1990 2020-10-14 2020-10-14 118827809 ENSG00000267626 XR_007067244 +HGNC:25948 HAUS6 HAUS augmin like complex subunit 6 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 "FLJ20060|KIAA1574|dgt6" FAM29A family with sequence similarity 29, member A "HAUS augmin like complex |Small nucleolar RNA protein coding host genes" "581|1835" 2004-01-06 2009-04-20 2015-11-09 2015-11-09 54801 ENSG00000147874 OTTHUMG00000019622 uc003znk.5 AL832495 NM_017645 CCDS6489 Q7Z4H7 "10997877|19427217" MGI:1923389 613433 HGNC:25948 "ENST00000380502.8|NM_017645.5" +HGNC:43764 HAUS6P1 HAUS augmin like complex subunit 6 pseudogene 1 pseudogene pseudogene Approved 7p12.1 07p12.1 2012-02-22 2015-11-09 2015-11-09 653175 ENSG00000227344 OTTHUMG00000155994 NG_005557 PGOHUM00000233230 HGNC:43764 +HGNC:43765 HAUS6P2 HAUS augmin like complex subunit 6 pseudogene 2 pseudogene pseudogene Approved 20q11.21 20q11.21 2012-02-22 2015-11-09 2015-11-09 100133268 ENSG00000236121 OTTHUMG00000032159 NG_029308 PGOHUM00000259635 HGNC:43765 +HGNC:50772 HAUS6P3 HAUS augmin like complex subunit 6 pseudogene 3 pseudogene pseudogene Approved 7p12.1 07p12.1 2014-06-18 2015-11-09 2015-11-09 102723574 ENSG00000235454 OTTHUMG00000156040 NG_046607 PGOHUM00000233234 HGNC:50772 +HGNC:32979 HAUS7 HAUS augmin like complex subunit 7 protein-coding gene gene with protein product Approved Xq28 Xq28 UIP1 "UCH37 interacting protein 1|26S proteasome-associated UCH interacting protein 1" UCHL5IP UCHL5 interacting protein HAUS augmin like complex 581 2006-10-30 2009-04-20 2015-11-09 2020-04-02 55559 ENSG00000213397 OTTHUMG00000159321 uc004fho.3 AF267739 NM_017518 CCDS35438 Q99871 "11163772|16395595|19427217" MGI:1920988 RGD:1562991 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UCHL5IP 300540 HGNC:32979 "ENST00000370211.10|NM_001385482.1" +HGNC:30532 HAUS8 HAUS augmin like complex subunit 8 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MGC20533|NY-SAR-48" HICE1 HEC1/NDC80 interacting, centrosome associated 1 HAUS augmin like complex 581 2008-12-16 2009-04-20 2015-11-09 2015-11-09 93323 ENSG00000131351 OTTHUMG00000182672 uc002nfe.4 BC004398 NM_001011699 "CCDS46009|CCDS32948" Q9BT25 19427217 MGI:1923728 RGD:1311565 613434 HGNC:30532 "ENST00000253669.10|NM_033417.2" +HGNC:43766 HAUS8P1 HAUS augmin like complex subunit 8 pseudogene 1 pseudogene pseudogene Approved 12q24.21 12q24.21 2012-02-22 2015-11-09 2017-03-28 100420901 ENSG00000257300 OTTHUMG00000169478 NG_024131 PGOHUM00000291811 HGNC:43766 +HGNC:17866 HAVCR1 hepatitis A virus cellular receptor 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "HAVCR-1|TIM-1|TIM1|HAVCR|TIMD1|CD365|KIM1" "T-cell immunoglobulin mucin family member 1|kidney injury molecule 1" "CD molecules|V-set domain containing" "471|590" 2002-12-04 2018-07-06 26762 ENSG00000113249 OTTHUMG00000163466 uc021ygj.2 AF043724 NM_012206 "CCDS78076|CCDS43392" Q96D42 "9658108|11725301|18273441" MGI:2159680 RGD:708425 606518 HGNC:17866 "ENST00000523175.6|NM_001173393.3" +HGNC:44033 HAVCR1P1 hepatitis A virus cellular receptor 1 pseudogene 1 pseudogene pseudogene Approved 19p12 19p12 2012-05-28 2014-11-19 100101266 NR_003603 PGOHUM00000234272 HGNC:44033 +HGNC:44035 HAVCR1P2 hepatitis A virus cellular receptor 1 pseudogene 2 pseudogene pseudogene Approved 4q26 04q26 2012-05-28 2014-11-19 100421002 NG_025245 PGOHUM00000257093 HGNC:44035 +HGNC:18437 HAVCR2 hepatitis A virus cellular receptor 2 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "Tim-3|TIM3|FLJ14428|TIMD3|CD366" T-cell immunoglobulin mucin family member 3 V-set domain containing 590 2002-12-04 2018-06-27 84868 ENSG00000135077 OTTHUMG00000130249 uc003lwk.3 AK027334 NM_032782 CCDS4333 Q8TDQ0 11823861 MGI:2159682 RGD:1305233 606652 objectId:2940 HGNC:18437 "ENST00000307851.9|NM_032782.5" +HGNC:16915 HAX1 HCLS1 associated protein X-1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "HS1BP1|HCLSBP1|HAX-1" HCLS1 (and PKD2) associated protein 2005-05-19 2021-05-26 10456 ENSG00000143575 OTTHUMG00000035978 uc001fes.5 U68566 NM_006118 "CCDS1064|CCDS44230" O00165 "9058808|10760273" MGI:1346319 RGD:727960 "HAX1base: Mutation registry for severe congenital neutropenia (Kostmann disease)|http://structure.bmc.lu.se/idbase/HAX1base/|LRG_64|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_64.xml" 605998 122370 HGNC:16915 "ENST00000328703.12|NM_006118.4" HGNC:16915 +HGNC:55151 HAX1P1 HAX1 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2020-07-15 2020-07-15 100129661 ENSG00000233467 NG_022646 +HGNC:4823 HBA1 hemoglobin subunit alpha 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HBA-T3 hemoglobin, alpha 1 Hemoglobin subunits 940 2001-06-22 2015-11-23 2021-05-26 3039 ENSG00000206172 OTTHUMG00000060138 uc002cfx.2 AF349571 NM_000558 CCDS10399 P69905 "1975428|2649166" "MGI:96015|MGI:96016" RGD:1359364 "HbVar: A Database of Human Hemoglobin Variants and Thalassemias|http://globin.cse.psu.edu/globin/hbvar/menu.html|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBA1|LRG_1225|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1225.xml" 141800 138671 HGNC:4823 "ENST00000320868.9|NM_000558.5" HGNC:4823 +HGNC:4824 HBA2 hemoglobin subunit alpha 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HBA-T2 hemoglobin, alpha 2 Hemoglobin subunits 940 2001-06-22 2015-11-23 2021-05-26 3040 ENSG00000188536 OTTHUMG00000059924 uc002cfv.4 BC008572 NM_000517 CCDS10398 P69905 "6452630|2649166" "MGI:96015|MGI:96016" "HbVar: A Database of Human Hemoglobin Variants and Thalassemias|http://globin.cse.psu.edu/globin/hbvar/menu.html|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBA2|LRG_1240|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1240.xml" 141850 122374 HGNC:4824 "ENST00000251595.11|NM_000517.6" HGNC:4824 +HGNC:4825 HBAP1 hemoglobin subunit alpha pseudogene 1 pseudogene pseudogene Approved 16p13.3 16p13.3 "HBA-T1|HBA3|HBA3P" hemoglobin, alpha pseudogene 1 2001-06-22 2015-11-23 2020-04-07 3041 ENSG00000225323 OTTHUMG00000059927 M22813 NG_000006 "7407925|1549498" PGOHUM00000293681 HGNC:4825 +HGNC:4827 HBB hemoglobin subunit beta protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "CD113t-C|beta-globin" hemoglobin, beta Hemoglobin subunits 940 2001-06-22 2015-11-23 2021-05-26 3043 ENSG00000244734 OTTHUMG00000066678 uc001mae.2 J00173 NM_000518 CCDS7753 P68871 2649166 "MGI:5474850|MGI:5474852" RGD:2783 "HbVar: A Database of Human Hemoglobin Variants and Thalassemias|http://globin.cse.psu.edu/globin/hbvar/menu.html|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBB|LRG_1232|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1232.xml" 141900 122376 ligandId:5370 HGNC:4827 "ENST00000335295.4|NM_000518.5" HGNC:4827 +HGNC:4828 HBBP1 hemoglobin subunit beta pseudogene 1 pseudogene pseudogene Approved 11p15.4 11p15.4 "HBH1|HBHP" hemoglobin, beta pseudogene 1 1988-10-01 2015-11-23 2017-06-28 3044 ENSG00000229988 OTTHUMG00000066684 X02133 NR_001589 "2649166|28624809" HGNC:4828 +HGNC:4829 HBD hemoglobin subunit delta protein-coding gene gene with protein product Approved 11p15.4 11p15.4 hemoglobin, delta Hemoglobin subunits 940 2001-06-22 2015-11-23 2021-05-26 3045 ENSG00000223609 OTTHUMG00000066674 uc001maf.2 AY034468 NM_000519 CCDS31376 P02042 2649166 "MGI:96021|MGI:96022|MGI:96025|MGI:5474850" RGD:1595848 "HbVar: A Database of Human Hemoglobin Variants and Thalassemias|http://globin.cse.psu.edu/globin/hbvar/menu.html|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBD|LRG_1335|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1335.xml" 142000 281857 HGNC:4829 "ENST00000650601.1|NM_000519.4" HGNC:4829 +HGNC:4830 HBE1 hemoglobin subunit epsilon 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 HBE hemoglobin, epsilon 1 Hemoglobin subunits 940 2001-06-22 2015-11-23 2016-10-05 3046 ENSG00000213931 OTTHUMG00000066675 uc001mam.2 BC015537 NM_005330 CCDS7756 P02100 2649166 MGI:96027 RGD:1305115 142100 HGNC:4830 "ENST00000396895.3|NM_005330.4" +HGNC:3059 HBEGF heparin binding EGF like growth factor protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "Diphtheria toxin receptor (heparin-binding EGF-like growth factor)|heparin-binding epidermal growth factor" "HEGFL|DTS|DTR" "diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)|heparin-binding EGF-like growth factor" 2001-06-22 2005-01-14 2016-01-21 2016-10-05 1839 ENSG00000113070 OTTHUMG00000129496 uc003lfi.4 NM_001945 CCDS4223 Q99075 "7590736|12163414" MGI:96070 RGD:2526 126150 ligandId:4948 HGNC:3059 "ENST00000230990.7|NM_001945.3" +HGNC:4831 HBG1 hemoglobin subunit gamma 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 HBG-T2 hemoglobin, gamma A Hemoglobin subunits 940 2001-06-22 2015-11-23 2021-05-26 3047 ENSG00000213934 OTTHUMG00000066681 uc001mah.2 M91036 NM_000559 CCDS7754 P69891 2649166 MGI:96024 RGD:620306 "HbVar: A Database of Human Hemoglobin Variants and Thalassemias|http://globin.cse.psu.edu/globin/hbvar/menu.html|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBG1" 142200 233184 HGNC:4831 "ENST00000330597.5|NM_000559.3" HGNC:4831 +HGNC:4832 HBG2 hemoglobin subunit gamma 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 HBG-T1 hemoglobin, gamma G Hemoglobin subunits 940 2001-06-22 2015-11-23 2021-05-26 3048 ENSG00000196565 OTTHUMG00000066673 uc001mak.2 BC029387 NM_000184 CCDS7755 P69892 2649166 MGI:96024 "HbVar: A Database of Human Hemoglobin Variants and Thalassemias|http://globin.cse.psu.edu/globin/hbvar/menu.html|The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBG2" 142250 233186 HGNC:4832 "ENST00000336906.6|NM_000184.3" HGNC:4832 +HGNC:4826 HBM hemoglobin subunit mu protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HBK HBAP2 "hemoglobin, alpha pseudogene 2|hemoglobin, mu" Hemoglobin subunits 940 2001-06-22 2006-05-12 2015-11-23 2015-11-23 3042 ENSG00000206177 OTTHUMG00000059926 uc002cfu.2 BC035682 NM_001003938 CCDS32347 Q6B0K9 "2649166|2825132|15855277" 609639 HGNC:4826 "ENST00000356815.4|NM_001003938.4" +HGNC:23200 HBP1 HMG-box transcription factor 1 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 2003-10-08 2015-08-25 26959 ENSG00000105856 OTTHUMG00000157642 uc064gwv.1 BC017069 NM_012257 CCDS5741 O60381 "9030690|11500377" MGI:894659 RGD:620444 616714 HGNC:23200 "ENST00000222574.9|NM_012257.4" +HGNC:4833 HBQ1 hemoglobin subunit theta 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HBQ hemoglobin, theta 1 Hemoglobin subunits 940 2001-06-22 2015-11-23 2015-11-23 3049 ENSG00000086506 OTTHUMG00000060727 uc002cfz.4 BC056686 NM_005331 CCDS10400 P09105 2649166 "MGI:2685722|MGI:3613460" RGD:2320907 142240 HGNC:4833 "ENST00000199708.3|NM_005331.5" +HGNC:4834 HBS1L HBS1 like translational GTPase protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "ERFS|HBS1|HSPC276|KIAA1038|DKFZp434g247|EF-1a|eRF3c" eRF3 family member "HBS1 (S. cerevisiae)-like|HBS1-like (S. cerevisiae)|HBS1-like translational GTPase" MicroRNA protein coding host genes 1691 2000-02-18 2015-11-18 2015-11-18 10767 ENSG00000112339 OTTHUMG00000015626 uc003qez.4 U87791 NM_001145158 "CCDS47479|CCDS47480|CCDS5173|CCDS87443" Q9Y450 "9872408|23667253" MGI:1891704 RGD:1308509 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=HBS1L 612450 HGNC:4834 "ENST00000367837.10|NM_006620.4" +HGNC:4835 HBZ hemoglobin subunit zeta protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HBZ1|HBZ-T1" hemoglobin, zeta Hemoglobin subunits 940 2001-06-22 2015-11-23 2015-11-23 3050 ENSG00000130656 OTTHUMG00000059928 uc002cft.2 M24173 NM_005332 CCDS10397 P02008 2649166 MGI:96019 RGD:1307486 142310 HGNC:4835 "ENST00000252951.3|NM_005332.3" +HGNC:4836 HBZP1 hemoglobin subunit zeta pseudogene 1 pseudogene pseudogene Approved 16p13.3 16p13.3 "HBZ-T2|HBZ2|HBZ2P" HBZP "hemoglobin, zeta pseudogene|hemoglobin, zeta pseudogene 1" 2001-06-22 2010-03-19 2015-11-23 2015-11-23 3051 ENSG00000206178 OTTHUMG00000059925 J00184 NG_000006 2649166 PGOHUM00000248958 HGNC:4836 +HGNC:4532 HCAR1 hydroxycarboxylic acid receptor 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "HCA1|FKSG80|TA-GPCR|LACR1" lactate receptor 1 "GPR104|GPR81" "G protein-coupled receptor 104|G protein-coupled receptor 81" Hydroxycarboxylic acid receptors 200 2000-01-20 2011-05-30 2011-05-30 2015-09-11 27198 ENSG00000196917 uc001ucz.4 AF411110 NM_032554 CCDS9236 Q9BXC0 "11574155|19047060|18952058|21454438" MGI:2441671 RGD:1586364 606923 objectId:311 HGNC:4532 "ENST00000432564.3|NM_032554.4" +HGNC:24827 HCAR2 hydroxycarboxylic acid receptor 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "HCA2|HM74A|PUMAG|Puma-g|NIACR1" niacin receptor 1 GPR109A G protein-coupled receptor 109A Hydroxycarboxylic acid receptors 200 2004-04-22 2011-05-30 2011-05-30 2015-09-11 338442 ENSG00000182782 OTTHUMG00000162722 uc001ucx.2 AY148884 NM_177551 CCDS9235 Q8TDS4 "21167710|12522134|12646212|19141678|18983141|21454438" MGI:1933383 RGD:727952 609163 objectId:312 HGNC:24827 "ENST00000328880.6|NM_177551.4" +HGNC:16824 HCAR3 hydroxycarboxylic acid receptor 3 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "HCA3|HM74" GPR109B G protein-coupled receptor 109B Hydroxycarboxylic acid receptors 200 2004-04-22 2011-05-30 2011-05-30 2016-11-16 8843 ENSG00000255398 OTTHUMG00000166034 uc001ucy.4 D10923 NM_006018 CCDS53842 P49019 "7505609|9205127|18983141|21454438" MGI:1933383 606039 objectId:313 HGNC:16824 "ENST00000528880.3|NM_006018.3" +HGNC:48612 HCCAT5 hepatocellular carcinoma associated transcript 5 non-coding RNA RNA, long non-coding Approved 16q22.3 16q22.3 "HTA|FJ222407" hepatoma associated gene hepatocellular carcinoma associated transcript 5 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-21 2018-05-16 2018-05-16 283902 ENSG00000260880 OTTHUMG00000172964 NR_027756 "20130911|23314567" 615613 HCCAT5 HGNC:48612 +HGNC:4837 HCCS holocytochrome c synthase protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 CCHL "cytochrome c heme-lyase|holocytochrome-c synthetase" MLS "holocytochrome c synthase (cytochrome c heme-lyase)|microphthalmia with linear skin defects" Mitochondrial respiratory chain complex assembly factors 645 1995-09-20 2010-05-11 2021-05-26 3052 ENSG00000004961 OTTHUMG00000021128 uc004cuj.4 NM_001122608 CCDS14139 P53701 "8364577|12444108" MGI:106911 RGD:1563855 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HCCS 300056 122378 4.4.1.17 HGNC:4837 "ENST00000380762.5|NM_005333.5" HGNC:4837 +HGNC:55698 HCCS-DT HCCS divergent transcript non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 Divergent transcripts 1990 2021-07-05 2021-07-05 121847985 ENSG00000234129 +HGNC:4839 HCFC1 host cell factor C1 protein-coding gene gene with protein product Approved Xq28 Xq28 "HCF-1|HCF1|CFF|VCAF|MGC70925|PPP1R89" "VP16-accessory protein|protein phosphatase 1, regulatory subunit 89" "HFC1|MRX3" "mental retardation, X-linked 3|host cell factor C1 (VP16-accessory protein)" "Protein phosphatase 1 regulatory subunits|ATAC complex|NSL histone acetyltransferase complex" "694|1058|1482" 1994-10-14 2014-06-09 2020-04-02 3054 ENSG00000172534 OTTHUMG00000024222 uc004fjp.4 NM_005334 CCDS44020 P51610 "8392914|23000143" MGI:105942 RGD:1563804 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HCFC1 300019 317358 HGNC:4839 "ENST00000310441.12|NM_005334.3" HGNC:4839 +HGNC:40273 HCFC1-AS1 HCFC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 HCFC1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873990 ENSG00000235802 OTTHUMG00000024223 uc065cad.1 NR_046608 HCFC1-AS1 HGNC:40273 +HGNC:21198 HCFC1R1 host cell factor C1 regulator 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HPIP|FLJ20568" host cell factor C1 regulator 1 (XPO1 dependent) 2003-06-23 2016-03-21 2020-03-31 54985 ENSG00000103145 OTTHUMG00000177450 uc002csz.3 AK000575 NM_017885 "CCDS10490|CCDS76810|CCDS32375|CCDS73815" Q9NWW0 12235138 MGI:2663619 RGD:727975 618818 HGNC:21198 "ENST00000248089.8|NM_017885.4" +HGNC:24972 HCFC2 host cell factor C2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 HCF-2 2004-06-18 2015-09-11 29915 ENSG00000111727 OTTHUMG00000170175 uc001tkj.5 AF117210 NM_013320 CCDS9097 Q9Y5Z7 10196288 MGI:1915183 RGD:1307385 607926 HGNC:24972 "ENST00000229330.9|NM_013320.3" +HGNC:39815 HCFC2P1 host cell factor C2 pseudogene 1 pseudogene pseudogene Approved 13q33.3 13q33.3 2011-03-30 2011-03-30 100419149 ENSG00000232087 OTTHUMG00000017331 NG_024949 PGOHUM00000248683 HGNC:39815 +HGNC:21241 HCG4 HLA complex group 4 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 "HCGIV-10|HCGIV.9" HCG4P10 "HLA complex group 4|HLA complex group 4 pseudogene 10|HLA complex group 4 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2003-05-29 2018-05-16 2018-05-16 54435 ENSG00000176998 OTTHUMG00000035423 AF036977 NR_002139 HCG4 HGNC:21241 +HGNC:22919 HCG4B HLA complex group 4B non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 "HCGIV-6|HCGIV.5|HCGIV-06|bCX67J3.3|Em:AB023056.16|bPG309N1.1|bQB90C11.3" HCGIV-6 pseudogene HCG4P6 "HLA complex group 4 pseudogene 6|HLA complex group 4B (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2003-09-01 2011-04-14 2018-05-16 2018-05-16 80868 ENSG00000227262 OTTHUMG00000031188 X81005 NR_001317 10557312 HCG4B HGNC:22919 +HGNC:30978 HCG4P1 HLA complex group 4 pseudogene 1 pseudogene pseudogene Approved 6p21.3 06p21.3 HCGIV-01 2003-12-16 2014-11-19 387503 +HGNC:30979 HCG4P2 HLA complex group 4 pseudogene 2 pseudogene pseudogene Approved 6p21.3 06p21.3 HCGIV-02 2003-12-16 2014-11-19 387504 +HGNC:22922 HCG4P3 HLA complex group 4 pseudogene 3 pseudogene pseudogene Approved 6p21.3 06p21.3 "HCGIV-03|HCGIV.2|HCGIV-3" HCGIV-03 pseudogene 2003-09-01 2014-11-19 353001 OTTHUMG00000130502 NG_016112 10557312 HGNC:22922 +HGNC:22924 HCG4P4 HLA complex group 4 pseudogene 4 pseudogene pseudogene Approved 6p21.3 06p21.3 "HCGIV-04|HCGIV.3|HCGIV-4" HCGIV-04 pseudogene 2003-09-01 2014-11-19 353002 NG_016113 10557312 HGNC:22924 +HGNC:22925 HCG4P5 HLA complex group 4 pseudogene 5 pseudogene pseudogene Approved 6p21.3 06p21.3 "HCGIV-05|HCGIV.4|HCGIV-5" HCGIV-05 pseudogene 2003-09-01 2014-11-18 353003 OTTHUMG00000031152 NG_016115 10557312 HGNC:22925 +HGNC:22926 HCG4P7 HLA complex group 4 pseudogene 7 pseudogene pseudogene Approved 6p21.3 06p21.3 "HCGIV-07|HCGIV.C|HCGIV-7" HCGIV-07 pseudogene 2003-09-01 2014-11-18 353004 OTTHUMG00000130509 NG_016116 10557312 HGNC:22926 +HGNC:22927 HCG4P8 HLA complex group 4 pseudogene 8 pseudogene pseudogene Approved 6p22.1 06p22.1 "HCGIV-08|HCGIV.7|HCGIV-8" HCGIV-08 pseudogene 2003-09-01 2016-10-05 353005 ENSG00000229142 OTTHUMG00000130505 NG_016117 10557312 HGNC:22927 +HGNC:22928 HCG4P9 HLA complex group 4 pseudogene 9 pseudogene pseudogene Approved 6p21.3 06p21.3 "HCGIV-09|HCGIV-9" HCGIV-09 pseudogene 2003-09-01 2011-04-14 353014 NG_002739 10557312 HGNC:22928 +HGNC:22930 HCG4P11 HLA complex group 4 pseudogene 11 pseudogene pseudogene Approved 6p21.3 06p21.3 "HCGIV-11|HCGIV.10" HCGIV-11 pseudogene 2003-09-01 2011-04-14 353020 OTTHUMG00000130503 NG_002744 10557312 HGNC:22930 +HGNC:21243 HCG9 HLA complex group 9 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 "PERB11|HCGIX|HCGIX4|HCGIX-4" "HLA complex group 9|HLA complex group 9 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2003-05-29 2018-05-16 2018-05-16 10255 ENSG00000204625 OTTHUMG00000031119 uc003rth.4 AB088085 NR_028032 "10727083|10557312" 615797 HCG9 HGNC:21243 +HGNC:30980 HCG9P1 HLA complex group 9 pseudogene 1 pseudogene pseudogene Approved 6p21.3 06p21.3 HCGIX-1 2003-12-16 2021-07-13 387505 +HGNC:30981 HCG9P2 HLA complex group 9 pseudogene 2 pseudogene pseudogene Approved 6p21.3 06p21.3 HCGIX-2 2003-12-16 2021-07-13 387506 +HGNC:30982 HCG9P3 HLA complex group 9 pseudogene 3 pseudogene pseudogene Approved 6p21.3 06p21.3 HCGIX-3.2 2003-12-16 2014-11-19 387507 +HGNC:30983 HCG9P5 HLA complex group 9 pseudogene 5 pseudogene pseudogene Approved 6p22.1 06p22.1 "HCGIX-5|dJ377H14.6" 2003-12-16 2021-07-13 353019 ENSG00000227758 OTTHUMG00000031159 AP000521 NG_002743 10557312 HGNC:30983 +HGNC:17707 HCG11 HLA complex group 11 non-coding RNA RNA, long non-coding Approved 6p22.2 06p22.2 "bK14H9.3|FLJ14049|FLJ30357" "HLA complex group 11|HLA complex group 11 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-11-25 2018-05-16 2018-05-16 493812 ENSG00000228223 OTTHUMG00000014456 uc011dkp.5 AK024111 NR_026790 "27522256|28677801" HCG11 HGNC:17707 +HGNC:17724 HCG13P HLA complex group 13 pseudogene pseudogene pseudogene Approved 6p21 06p21 dJ193B12.5 2004-11-25 2014-11-19 493813 NG_065961 HGNC:17724 +HGNC:18323 HCG14 HLA complex group 14 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 dJ111M5.4 "HLA complex group 14|HLA complex group 14 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-16 2018-06-20 414760 ENSG00000224157 OTTHUMG00000031281 uc032wps.2 NR_104117 29601440 HCG14 HGNC:18323 +HGNC:18361 HCG15 HLA complex group 15 non-coding RNA RNA, long non-coding Approved 6p21 06p21 "dJ25J6.6|dJ25J6.7" HCG16 "HLA complex group 15|HLA complex group 16 (non-protein coding)|HLA complex group 16|HLA complex group 15 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-16 2018-05-16 414761 ENSG00000227214 OTTHUMG00000031267 uc063tbz.1 NR_135289 HGNC:18361 +HGNC:31339 HCG17 HLA complex group 17 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 "NCRNA00046|LINC00046" "non-protein coding RNA 46|long intergenic non-protein coding RNA 46" HLA complex group 17 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-16 2018-05-16 414778 ENSG00000270604 OTTHUMG00000031114 uc063tfb.1 AB023055 NR_052012 HGNC:31339 +HGNC:31337 HCG18 HLA complex group 18 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 "FLJ31598|FLJ25550|Em:AB014087.1" "HLA complex group 18|HLA complex group 18 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-16 2018-05-16 414777 ENSG00000231074 OTTHUMG00000031138 uc031svu.2 AK056160 NR_024052 HGNC:31337 +HGNC:31336 HCG19P HLA complex group 19 pseudogene pseudogene pseudogene Approved 6p21.3 06p21.3 AB014085.4 2004-06-15 2014-11-19 414776 OTTHUMG00000031057 +HGNC:31334 HCG20 HLA complex group 20 non-coding RNA RNA, long non-coding Approved 6p21 06p21 "AB023051.1|NCRNA00149" non-protein coding RNA 149 HLA complex group 20 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-16 2018-05-16 105375013 ENSG00000228022 OTTHUMG00000031193 uc063ypc.1 NR_138037 HCG20 HGNC:31334 +HGNC:31335 HCG21 HLA complex group 21 non-coding RNA RNA, long non-coding Approved 6p21 06p21 "AB023048.2|NCRNA00150" non-protein coding RNA 150 HLA complex group 21 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-16 2018-05-16 102723346 ENSG00000233529 OTTHUMG00000031182 uc063tzw.1 NR_138040 HCG21 HGNC:31335 +HGNC:27780 HCG22 HLA complex group 22 (gene/pseudogene) protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "FLJ37114|PBMUCL2" panbronchiolitis related mucin-like 2 HLA complex group 22 (non-protein coding) 2004-06-15 2020-11-04 2020-11-04 285834 ENSG00000228789 OTTHUMG00000031179 uc063xkr.1 AK094433 NM_001348249 E2RYF7 "14702039|25813999" 613918 HGNC:27780 +HGNC:19713 HCG23 HLA complex group 23 non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 dJ1077I5.3 "HLA complex group 23|HLA complex group 23 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-17 2018-08-17 414764 OTTHUMG00000031217 uc021zxr.2 NR_044996 HCG23 HGNC:19713 +HGNC:23500 HCG24 HLA complex group 24 non-coding RNA RNA, long non-coding Approved 6p21 06p21 dJ1033B10.15 "HLA complex group 24|HLA complex group 24 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-16 2018-05-16 414768 ENSG00000230313 OTTHUMG00000031166 uc063vze.1 NR_138084 HCG24 HGNC:23500 +HGNC:20196 HCG25 HLA complex group 25 non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 dJ1033B10.16 "HLA complex group 25|HLA complex group 25 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-16 2018-05-16 414765 ENSG00000232940 OTTHUMG00000031170 uc021zmm.2 NR_044997 HCG25 HGNC:20196 +HGNC:29671 HCG26 HLA complex group 26 non-coding RNA RNA, long non-coding Approved 6p21.3 06p21.3 "bPG181B23.4|bCX205D4.4|NCRNA00191" non-protein coding RNA 191 "HLA complex group 26|HLA complex group 26 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-16 2018-05-16 352961 AB088105 NR_002812 HCG26 HGNC:29671 +HGNC:27366 HCG27 HLA complex group 27 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 "bPG299F13.9|bCX101P6.9|bQB115I13.2|FLJ40123" "HLA complex group 27|HLA complex group 27 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-06-15 2018-05-16 2018-05-16 253018 ENSG00000206344 OTTHUMG00000031248 uc011dni.5 AK097442 NR_026791 12477932 HCG27 HGNC:27366 +HGNC:4840 HCK HCK proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 20q11.21 20q11.21 JTK9 hemopoietic cell kinase "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1986-01-01 2014-06-25 2016-10-05 3055 ENSG00000101336 OTTHUMG00000032204 uc061wdn.1 AK026432 NM_001172129 "CCDS54456|CCDS33460|CCDS54455|CCDS54453" P08631 3496523 MGI:96052 RGD:2785 142370 objectId:2032 HGNC:4840 "ENST00000375852.5|NM_002110.5" +HGNC:4844 HCLS1 hematopoietic cell-specific Lyn substrate 1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "HS1|CTTNL" cortactin-like 1995-09-26 2016-10-05 3059 ENSG00000180353 OTTHUMG00000159409 uc003eeh.5 NM_005335 "CCDS77800|CCDS3003" P14317 "8978766|15710041" MGI:104568 RGD:1304754 601306 HGNC:4844 "ENST00000314583.8|NM_005335.6" +HGNC:4845 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 protein-coding gene gene with protein product Approved 5p12 05p12 "BCNG-1|HAC-2" BCNG1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1 Cyclic nucleotide gated channels 250 1998-08-20 2015-01-15 2021-05-26 348980 ENSG00000164588 OTTHUMG00000131155 uc003jok.5 AF064876 NM_021072 CCDS3952 O60741 "9405696|9630217|16382102" MGI:1096392 RGD:620688 602780 413970 objectId:400 HGNC:4845 "ENST00000303230.6|NM_021072.4" HGNC:4845 +HGNC:4846 HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "BCNG-2|HAC-1" BCNG2 "hyperpolarization activated cyclic nucleotide-gated potassium channel 2|hyperpolarization activated cyclic nucleotide gated potassium channel 2" Cyclic nucleotide gated channels 250 1998-08-20 2017-05-23 2021-05-26 610 ENSG00000099822 OTTHUMG00000180590 uc002lpe.3 AF064877 NM_001194 CCDS12035 Q9UL51 "9405696|9630217|16382102|10228147|19584315" MGI:1298210 RGD:620689 602781 470432 objectId:401 HGNC:4846 "ENST00000251287.3|NM_001194.4" +HGNC:19183 HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 protein-coding gene gene with protein product Approved 1q22 01q22 KIAA1535 hyperpolarization activated cyclic nucleotide-gated potassium channel 3 Cyclic nucleotide gated channels 250 2002-09-02 2015-01-15 2016-10-05 57657 ENSG00000143630 OTTHUMG00000035872 uc001fjz.3 AB040968 NM_020897 CCDS1108 Q9P1Z3 16382102 MGI:1298211 RGD:620691 609973 objectId:402 HGNC:19183 "ENST00000368358.4|NM_020897.3" +HGNC:16882 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 Cyclic nucleotide gated channels 250 2002-09-02 2015-01-15 2021-05-26 10021 ENSG00000138622 OTTHUMG00000137563 uc002avp.3 AJ132429 NM_005477 CCDS10248 Q9Y3Q4 "10228147|10430953|16382102" MGI:1298209 RGD:71065 605206 122381 objectId:403 HGNC:16882 "ENST00000261917.4|NM_005477.3" HGNC:16882 +HGNC:21659 HCP5 HLA complex P5 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 "D6S2650E|P5-1" "HLA complex P5|HLA complex P5 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2003-07-07 2018-05-16 2019-07-12 10866 ENSG00000206337 OTTHUMG00000031282 uc003ntl.4 D88650 NR_040662 Q6MZN7 "8462994|10199916|31215169" 604676 HCP5 HGNC:21659 +HGNC:30984 HCP5B HLA complex P5B non-coding RNA RNA, long non-coding Approved 6p21.3 06p21.3 "P5-10|P5.9" HCP5P10 "HLA complex P5 pseudogene 10|HLA complex P5B (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2003-12-16 2011-08-11 2018-05-16 2018-05-16 352990 OTTHUMG00000189541 uc032wpz.1 BC035828 NR_031762 HGNC:30984 +HGNC:4847 HCRT hypocretin neuropeptide precursor protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "PPOX|OX" "prepro-orexin|orexin" hypocretin (orexin) neuropeptide precursor Neuropeptides 1902 1998-04-21 2016-06-21 2016-10-06 3060 ENSG00000161610 OTTHUMG00000180107 uc002hzc.1 AF041240 NM_001524 CCDS11421 O43612 "9419374|9491897" MGI:1202306 RGD:2786 602358 122383 ligandId:1697 HGNC:4847 "ENST00000293330.1|NM_001524.1" HGNC:4847 +HGNC:4848 HCRTR1 hypocretin receptor 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "OX1R|OXR1|ORXR1" orexin receptor 1 hypocretin (orexin) receptor 1 Hypocretin receptors 228 1998-04-21 2016-01-29 2021-05-06 3061 ENSG00000121764 OTTHUMG00000003876 uc001btd.3 AF041243 NM_001525 CCDS344 O43613 9491897 MGI:2385650 RGD:2787 602392 objectId:321 HGNC:4848 "ENST00000403528.7|NM_001525.3" +HGNC:4849 HCRTR2 hypocretin receptor 2 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "OX2R|OXR2|ORXR2" orexin receptor 2 hypocretin (orexin) receptor 2 Hypocretin receptors 228 1998-04-21 2016-01-29 2021-04-30 3062 ENSG00000137252 OTTHUMG00000016150 uc003pcl.5 AF041245 NM_001384272 CCDS4956 O43614 9491897 MGI:2680765 RGD:2788 602393 objectId:322 HGNC:4849 "ENST00000370862.4|NM_001384272.1" +HGNC:16977 HCST hematopoietic cell signal transducer protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "DAP10|DKFZP586C1522|KAP10" "DNAX-activation protein 10|kinase assoc pro of ~10kDa" PIK3AP phosphoinositide-3-kinase adaptor protein 2003-03-04 2003-10-15 2003-10-14 2016-10-05 10870 ENSG00000126264 OTTHUMG00000048132 uc002ocl.2 AF072844 NM_014266 "CCDS46057|CCDS32998" Q9UBK5 10426994 MGI:1344360 RGD:1359238 604089 HGNC:16977 "ENST00000246551.9|NM_014266.4" +HGNC:4852 HDAC1 histone deacetylase 1 protein-coding gene gene with protein product Approved 1p35.2-p35.1 01p35.2-p35.1 "HD1|GON-10|KDAC1" RPD3L1 "Histone deacetylases, class I|EMSY complex|NuRD complex subunits|SIN3 histone deacetylase complex subunits|MiDAC complex subunits" "989|1243|1305|1306|2103" 1996-11-15 2019-02-19 3065 ENSG00000116478 OTTHUMG00000007529 uc001bvb.2 D50405 NM_004964 CCDS360 Q13547 8602529 MGI:108086 RGD:1309799 601241 470434 objectId:2658 HGNC:4852 "ENST00000373548.8|NM_004964.3" +HGNC:45190 HDAC1P1 histone deacetylase 1 pseudogene 1 pseudogene pseudogene Approved 10q23.33 10q23.33 2013-03-05 2013-06-06 100419595 ENSG00000234724 OTTHUMG00000018784 NG_025534 PGOHUM00000238893 HGNC:45190 +HGNC:45191 HDAC1P2 histone deacetylase 1 pseudogene 2 pseudogene pseudogene Approved 1q41 01q41 2013-03-05 2013-03-05 100419489 ENSG00000233012 OTTHUMG00000037360 NG_027210 PGOHUM00000245213 HGNC:45191 +HGNC:4853 HDAC2 histone deacetylase 2 protein-coding gene gene with protein product Approved 6q21 06q21 "RPD3|YAF1|KDAC2" "Histone deacetylases, class I|EMSY complex|NuRD complex subunits|SIN3 histone deacetylase complex subunits|MiDAC complex subunits" "989|1243|1305|1306|2103" 1996-11-15 2019-02-19 3066 ENSG00000196591 OTTHUMG00000015411 uc003pwd.3 U31814 NM_001527 CCDS43493 Q92769 9782097 MGI:1097691 RGD:619976 605164 470436 objectId:2616 HGNC:4853 "ENST00000519065.6|NM_001527.4" +HGNC:43590 HDAC2-AS2 HDAC2 and HS3ST5 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 6q21-q22.1 06q21-q22.1 ENST00000421891 Antisense RNAs 1987 2017-02-16 2017-02-16 2018-02-13 101927768 ENSG00000228624 OTTHUMG00000164691 NR_125845 27816668 HGNC:43590 +HGNC:4854 HDAC3 histone deacetylase 3 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "RPD3|HD3|RPD3-2|KDAC3" "Histone deacetylases, class I|NCoR/SMRT transcriptional repression complex subunits" "989|1875" 1999-01-29 2019-02-19 8841 ENSG00000171720 OTTHUMG00000129629 uc003llf.3 AF059650 NM_003883 CCDS4264 O15379 "9501169|9464271" MGI:1343091 RGD:619977 605166 objectId:2617 3.5.1.98 HGNC:4854 "ENST00000305264.8|NM_003883.4" +HGNC:14063 HDAC4 histone deacetylase 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "KIAA0288|HDAC-A|HDACA|HD4|HA6116|HDAC-4" BDMR brachydactyly-mental retardation syndrome "Histone deacetylases, class IIA|MicroRNA protein coding host genes" "992|1691" 2000-11-28 2021-05-26 9759 ENSG00000068024 OTTHUMG00000133344 uc002vyk.4 AB006626 NM_006037 CCDS2529 P56524 "10206986|10220385|20691407" MGI:3036234 RGD:619979 605314 238991 objectId:2659 HGNC:14063 "ENST00000543185.6|NM_001378414.1" HGNC:14063 +HGNC:54064 HDAC4-AS1 HDAC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Antisense RNAs 1987 2018-09-27 2018-09-27 101928111 ENSG00000222020 OTTHUMG00000152658 NR_135575 HGNC:54064 +HGNC:14068 HDAC5 histone deacetylase 5 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "KIAA0600|NY-CO-9|FLJ90614" Histone deacetylases, class IIA 992 2000-11-28 2016-10-06 10014 ENSG00000108840 OTTHUMG00000181806 uc002iff.2 AF249731 NM_001015053 "CCDS45696|CCDS32663" Q9UQL6 "10220385|9610721" MGI:1333784 RGD:619980 605315 objectId:2660 3.5.1.98 HGNC:14068 "ENST00000682912.1|NM_005474.5" HGNC:14068 +HGNC:14064 HDAC6 histone deacetylase 6 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "KIAA0901|JM21|HD6|FLJ16239|PPP1R90" protein phosphatase 1, regulatory subunit 90 "Protein phosphatase 1 regulatory subunits|Histone deacetylases, class IIB" "694|993" 2000-11-28 2020-04-02 10013 ENSG00000094631 OTTHUMG00000034496 uc004dks.2 AF132609 NM_006044 "CCDS14306|CCDS87740" Q9UBN7 "10220385|10048485" MGI:1333752 RGD:619981 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDAC6 300272 248481 objectId:2618 HGNC:14064 "ENST00000334136.11|NM_006044.4" HGNC:14064 +HGNC:14067 HDAC7 histone deacetylase 7 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 DKFZP586J0917 HDAC7A histone deacetylase 7A Histone deacetylases, class IIA 992 2001-07-13 2008-02-25 2008-02-25 2016-10-05 51564 ENSG00000061273 OTTHUMG00000152968 uc010slo.3 AF239243 NM_001098416 "CCDS41776|CCDS81685|CCDS8756" Q8WUI4 "10922406|10640276" MGI:1891835 RGD:619982 606542 objectId:2661 HGNC:14067 "ENST00000080059.12|NM_015401.5" +HGNC:13315 HDAC8 histone deacetylase 8 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "RPD3|KDAC8" "HDACL1|WTS|MRXS6" "histone deacetylase-like 1|Wilson-Turner X-linked mental retardation syndrome" Histone deacetylases, class I 989 2000-11-28 2002-09-06 2002-09-02 2021-05-26 55869 ENSG00000147099 OTTHUMG00000021814 uc004eau.3 AF230097 NM_018486 "CCDS55452|CCDS14420|CCDS55451|CCDS55450|CCDS55449|CCDS55448" Q9BY41 "10756090|10922473|22889856" MGI:1917565 RGD:1562895 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDAC8 300269 290272 objectId:2619 HGNC:13315 "ENST00000373573.9|NM_018486.3" HGNC:13315 +HGNC:14065 HDAC9 histone deacetylase 9 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "KIAA0744|HDAC|MITR|HD7|HDAC7B" Histone deacetylases, class IIA 992 2002-09-06 2015-09-11 9734 ENSG00000048052 OTTHUMG00000152487 uc011jya.3 AF124924 NM_001204144 "CCDS56466|CCDS47557|CCDS47555|CCDS47554|CCDS47553|CCDS75565|CCDS56465|CCDS83163|CCDS56468|CCDS56467" Q9UKV0 "10523670|10487760" MGI:1931221 RGD:1310748 606543 objectId:2620 HGNC:14065 "ENST00000686413.1|NM_178425.4" +HGNC:40664 HDAC9-AS1 HDAC9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p21.1 07p21.1 Antisense RNAs 1987 2019-08-07 2019-08-07 105375176 ENSG00000226522 OTTHUMG00000152543 XR_927081 HGNC:40664 +HGNC:18128 HDAC10 histone deacetylase 10 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 DKFZP761B039 Histone deacetylases, class IIB 993 2002-04-30 2016-10-05 83933 ENSG00000100429 OTTHUMG00000044647 uc003bkg.4 AF393962 NM_032019 "CCDS14088|CCDS54545" Q969S8 "11677242|11726666" MGI:2158340 RGD:1305874 608544 objectId:2614 HGNC:18128 "ENST00000216271.10|NM_032019.6" +HGNC:19086 HDAC11 histone deacetylase 11 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 Histone deacetylases, class IV 991 2002-08-09 2014-11-19 79885 ENSG00000163517 OTTHUMG00000129800 uc003bxy.4 AK025426 NM_024827 "CCDS2615|CCDS82738|CCDS46760" Q96DB2 11948178 MGI:2385252 RGD:1311706 607226 objectId:2615 3.5.1.98 HGNC:19086 "ENST00000295757.8|NM_024827.4" +HGNC:40868 HDAC11-AS1 HDAC11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 HDAC11 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-06-07 100874101 ENSG00000244502 OTTHUMG00000155438 uc062gwz.1 NR_046690 HDAC11-AS1 HGNC:40868 +HGNC:4855 HDC histidine decarboxylase protein-coding gene gene with protein product Approved 15q21.2 15q21.2 1990-12-19 2015-08-25 3067 ENSG00000140287 OTTHUMG00000131644 uc001zxz.4 NM_001306146 "CCDS10134|CCDS76754" P19113 1487235 MGI:96062 RGD:2790 142704 411115 objectId:1274 4.1.1.22 HGNC:4855 "ENST00000267845.8|NM_002112.4" HGNC:4855 +HGNC:21078 HDDC2 HD domain containing 2 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "CGI-130|dJ167O5.2" C6orf74 chromosome 6 open reading frame 74 2003-11-26 2005-08-22 2005-08-22 2016-10-05 51020 ENSG00000111906 OTTHUMG00000015506 uc003qaa.2 AF151888 NM_016063 CCDS43503 Q7Z4H3 10810093 MGI:1916942 RGD:1307562 HGNC:21078 "ENST00000398153.7|NM_016063.3" +HGNC:30522 HDDC3 HD domain containing 3 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "MGC45386|MESH1" 2005-08-22 2021-02-04 374659 ENSG00000184508 OTTHUMG00000141260 uc032cpi.2 AK057584 NM_198527 "CCDS10366|CCDS66866" Q8N4P3 20818390 MGI:1915945 RGD:1311839 HGNC:30522 "ENST00000394272.8|NM_001286451.2" +HGNC:4856 HDGF heparin binding growth factor protein-coding gene gene with protein product Approved 1q23.1 01q23.1 HMG1L2 high-mobility group protein 1-like "hepatoma-derived growth factor (high-mobility group protein 1-like)|hepatoma derived growth factor" Heparin binding growth factor family 1418 1998-01-08 2017-02-27 2017-03-31 3068 ENSG00000143321 OTTHUMG00000041295 uc001fpy.5 D16431 NM_004494 "CCDS44248|CCDS44247|CCDS1156" P51858 "8833162|26845719" MGI:1194494 RGD:70961 600339 HGNC:4856 "ENST00000357325.10|NM_004494.3" +HGNC:21095 HDGFL1 HDGF like 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "dJ309H15.1|Hdgfrp1|HRP-1" PWWP1 "PWWP domain containing 1|hepatoma derived growth factor-like 1" Heparin binding growth factor family 1418 2003-05-20 2005-04-07 2017-02-27 2019-09-04 154150 ENSG00000112273 OTTHUMG00000016206 uc003nds.4 AK056824 NM_138574 CCDS34347 Q5TGJ6 MGI:1194493 RGD:621012 HGNC:21095 "ENST00000510882.4|NM_138574.4" +HGNC:14680 HDGFL2 HDGF like 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HRP2|Hdgfrp2" hepatoma-derived growth factor related protein 2 Heparin binding growth factor family 1418 2017-04-21 2017-04-21 84717 ENSG00000167674 "AF294267|BC009449" NM_001001520 "CCDS59336|CCDS42472" Q7Z4V5 "16337983|15371438" MGI:1194492 RGD:621013 617884 HGNC:14680 "ENST00000616600.5|NM_001001520.3" +HGNC:24937 HDGFL3 HDGF like 3 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "HRP-3|Hdgfrp3" Heparin binding growth factor family 1418 2017-04-21 2019-09-04 50810 ENSG00000166503 AB029156 NM_016073 CCDS32314 Q9Y3E1 "10581169|10810093" MGI:1352760 RGD:628773 616643 HGNC:24937 "ENST00000299633.7|NM_016073.4" +HGNC:54965 HDGFL3P1 HDGFL3 pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 2020-05-13 2020-05-13 117751742 ENSG00000234466 NG_070705 +HGNC:31836 HDGFP1 heparin binding growth factor pseudogene 1 pseudogene pseudogene Approved Xq26.2 Xq26.2 HDGFP "hepatoma-derived growth factor (high-mobility group protein 1-like) pseudogene|hepatoma-derived growth factor pseudogene 1|hepatoma derived growth factor pseudogene 1" 2004-10-29 2010-03-19 2017-03-31 2017-03-31 474167 ENSG00000227183 OTTHUMG00000022415 AL109853 NG_004722 PGOHUM00000242017 HGNC:31836 +HGNC:25364 HDHD2 haloacid dehalogenase like hydrolase domain containing 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 DKFZP564D1378 haloacid dehalogenase-like hydrolase domain containing 2 Haloacid dehalogenase like hydrolase domain containing 1377 2004-08-09 2015-12-01 2015-12-01 84064 ENSG00000167220 OTTHUMG00000179411 uc002lcs.4 AL136681 NM_032124 CCDS32829 Q9H0R4 11230166 MGI:1924237 RGD:1308579 HGNC:25364 "ENST00000300605.11|NM_032124.5" +HGNC:28171 HDHD3 haloacid dehalogenase like hydrolase domain containing 3 protein-coding gene gene with protein product Approved 9q32 09q32 MGC12904 C9orf158 "chromosome 9 open reading frame 158|haloacid dehalogenase-like hydrolase domain containing 3" Haloacid dehalogenase like hydrolase domain containing 1377 2004-05-10 2004-08-12 2015-12-01 2016-10-05 81932 ENSG00000119431 OTTHUMG00000020524 uc004bhk.4 AK097067 NM_031219 CCDS6793 Q9BSH5 12477932 MGI:1919998 RGD:1585262 HGNC:28171 "ENST00000374180.4|NM_001304509.2" +HGNC:1843 HDHD5 haloacid dehalogenase like hydrolase domain containing 5 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 CECR5 cat eye syndrome chromosome region, candidate 5 Haloacid dehalogenase like hydrolase domain containing 1377 2000-01-31 2017-02-02 2017-02-02 2017-02-02 27440 ENSG00000069998 OTTHUMG00000150071 uc002zmh.4 AF273270 NM_017829 "CCDS13741|CCDS33595" Q9BXW7 11381032 MGI:2136976 RGD:1306557 HGNC:1843 "ENST00000336737.8|NM_033070.3" +HGNC:1842 HDHD5-AS1 HDHD5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.1 22q11.1 NCRNA00017 non-protein coding RNA 17 "CECR4|CECR5-AS1" "cat eye syndrome chromosome region, candidate 4|cat eye syndrome chromosome region, candidate 4 (non-protein coding)|CECR5 antisense RNA 1 (non-protein coding)|CECR5 antisense RNA 1" Antisense RNAs 1987 2000-01-31 2017-03-01 2017-03-01 2017-03-01 100130717 ENSG00000185837 OTTHUMG00000150096 uc002zmi.5 AF307448 NR_024483 11381032 HGNC:1842 +HGNC:4857 HDLBP high density lipoprotein binding protein protein-coding gene gene with protein product Approved 2q37.3 02q37.3 HBP VGL vigilin 1992-12-01 2008-07-18 2015-09-11 3069 ENSG00000115677 OTTHUMG00000133391 uc002wba.4 NM_203346 "CCDS2547|CCDS58760" Q00341 "1318310|8390966" MGI:99256 RGD:620962 142695 HGNC:4857 "ENST00000310931.10|NM_005336.6" +HGNC:56103 HDLBP-AS1 HDLBP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Antisense RNAs 1987 2022-01-06 2022-01-06 101927509 NR_168372 +HGNC:26411 HDX highly divergent homeobox protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 FLJ30678 CXorf43 chromosome X open reading frame 43 POU class homeoboxes and pseudogenes 523 2004-09-09 2007-07-13 2007-07-13 2020-04-02 139324 ENSG00000165259 OTTHUMG00000021926 uc004eek.3 BX538112 NM_144657 "CCDS35342|CCDS55456" Q7Z353 MGI:2685226 RGD:1563666 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDX 300994 8581 HGNC:26411 "ENST00000373177.3|NM_001177479.2" +HGNC:25517 HEATR1 HEAT repeat containing 1 protein-coding gene gene with protein product Approved 1q43 01q43 "FLJ10359|BAP28|UTP10" UTP10, small subunit (SSU) processome component, homolog (yeast) "Minor histocompatibility antigens|UTPa subcomplex|Armadillo like helical domain containing" "870|1483|1492" 2005-07-29 2018-11-16 55127 ENSG00000119285 OTTHUMG00000040061 uc001hyd.3 BC065205 NM_018072 CCDS31066 Q9H583 17699751 MGI:2442524 RGD:1564769 HGNC:25517 "ENST00000366582.8|NM_018072.6" +HGNC:26087 HEATR3 HEAT repeat containing 3 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 FLJ20718 Armadillo like helical domain containing 1492 2006-04-05 2019-02-21 55027 ENSG00000155393 OTTHUMG00000133174 uc002efw.4 BC018730 NM_182922 CCDS10739 Q7Z4Q2 23615072 MGI:2444491 RGD:1308267 614951 HGNC:26087 "ENST00000299192.8|NM_182922.4" +HGNC:55406 HEATR3-AS1 HEATR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Antisense RNAs 1987 2021-01-06 2021-01-06 120017339 ENSG00000259843 +HGNC:16761 HEATR4 HEAT repeat containing 4 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 MGC48595 Armadillo like helical domain containing 1492 2006-10-16 2016-04-25 399671 ENSG00000187105 OTTHUMG00000171602 uc021rwf.3 BC047590 NM_203309 CCDS9815 Q86WZ0 15489334 MGI:4937307 RGD:1566220 HGNC:16761 "ENST00000553558.6|NM_001220484.1" +HGNC:20276 HEATR5A HEAT repeat containing 5A protein-coding gene gene with protein product Approved 14q12 14q12 "DKFZP434I1735|p200b" C14orf125 chromosome 14 open reading frame 125 Armadillo like helical domain containing 1492 2003-01-17 2007-01-02 2007-01-02 2020-12-09 25938 ENSG00000129493 OTTHUMG00000169043 uc001wrf.5 AB037737 NM_015473 CCDS45094 Q86XA9 15758025 MGI:2444133 RGD:1561116 HGNC:20276 "ENST00000543095.7|NM_015473.4" +HGNC:55552 HEATR5A-DT HEATR5A divergent transcript non-coding RNA RNA, long non-coding Approved 14q12 14q12 Divergent transcripts 1990 2021-03-25 2021-03-25 101927124 ENSG00000250365 NR_110045 +HGNC:29273 HEATR5B HEAT repeat containing 5B protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "KIAA1414|DKFZp686P15184|p200|p200a" Armadillo like helical domain containing 1492 2007-01-02 2020-12-09 54497 ENSG00000008869 OTTHUMG00000152158 uc002rpp.2 AB037835 NM_019024 CCDS33181 Q9P2D3 "10718198|15758025|30523155" MGI:2444098 RGD:1359216 619627 HGNC:29273 "ENST00000233099.6|NM_019024.3" +HGNC:24076 HEATR6 HEAT repeat containing 6 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "ABC1|FLJ22087" amplified in breast cancer 1 "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2007-05-01 2016-10-06 63897 ENSG00000068097 OTTHUMG00000179981 uc002iyk.2 BX640819 NM_022070 CCDS11623 Q6AI08 12755490 MGI:1919790 RGD:1566204 HGNC:24076 "ENST00000184956.11|NM_022070.5" +HGNC:52929 HEATR6-DT HEATR6 divergent transcript non-coding RNA RNA, long non-coding Approved 17q23.1 17q23.1 Divergent transcripts 1990 2020-10-15 2020-10-15 105371849 ENSG00000267416 OTTHUMG00000179983 NR_135648 +HGNC:26548 HEATR9 HEAT repeat containing 9 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ32830 C17orf66 chromosome 17 open reading frame 66 Armadillo like helical domain containing 1492 2005-12-16 2014-04-03 2014-04-03 2015-08-26 256957 ENSG00000270379 OTTHUMG00000188393 AK057392 NM_152781 "CCDS82108|CCDS11299" A2RTY3 12477932 MGI:3650286 RGD:1559875 HGNC:26548 "ENST00000604834.6|NM_152781.4" +HGNC:17176 HEBP1 heme binding protein 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 "HEBP|HBP" Receptor ligands 542 2001-11-16 2016-10-05 50865 ENSG00000013583 OTTHUMG00000168771 uc001rbd.4 AF117615 NM_015987 CCDS31749 Q9NRV9 10640688 MGI:1333880 RGD:1304581 605826 ligandId:3935 HGNC:17176 "ENST00000014930.9|NM_015987.5" +HGNC:15716 HEBP2 heme binding protein 2 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 SOUL C6orf34 chromosome 6 open reading frame 34 2001-06-04 2002-09-27 2002-09-23 2016-10-05 23593 ENSG00000051620 OTTHUMG00000015671 uc003qhw.2 AF117616 NM_001326380 "CCDS87448|CCDS5191" Q9Y5Z4 "10640688|17098234" MGI:1860084 RGD:1311553 605825 HGNC:15716 "ENST00000607197.6|NM_014320.3" +HGNC:54784 HEBP2P1 HEBP2 pseudogene 1 pseudogene pseudogene Approved 2q24.1 02q24.1 2020-01-08 2020-01-08 100128759 ENSG00000235548 NG_021531 +HGNC:21041 HECA hdc homolog, cell cycle regulator protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "HDCL|hHDC|HDC|dJ225E12.1" headcase homolog (Drosophila) 2003-06-10 2015-07-23 2016-10-05 51696 ENSG00000112406 OTTHUMG00000015686 uc003qin.4 AB033492 NM_016217 CCDS5194 Q9UBI9 "11696983|19643820|22100912" MGI:2685715 RGD:1304818 607977 HGNC:21041 "ENST00000367658.3|NM_016217.3" +HGNC:20157 HECTD1 HECT domain E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 14q12 14q12 KIAA1131 HECT domain containing E3 ubiquitin protein ligase 1 "Ankyrin repeat domain containing|Armadillo like helical domain containing|HECT domain containing" "403|1492|1959" 2002-12-18 2016-03-09 2016-03-09 25831 ENSG00000092148 OTTHUMG00000170670 uc059anr.1 AB032957 NM_015382 CCDS41939 Q9ULT8 10574461 MGI:2384768 RGD:1561653 618649 470438 HGNC:20157 "ENST00000399332.6|NM_015382.4" +HGNC:26736 HECTD2 HECT domain E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 FLJ37306 HECT domain containing E3 ubiquitin protein ligase 2 HECT domain containing 1959 2004-05-27 2016-03-09 2016-03-09 143279 ENSG00000165338 OTTHUMG00000018742 uc001khl.4 AK094625 NM_001284274 "CCDS7415|CCDS60591|CCDS7414" Q5U5R9 "8619474|9110174" MGI:2442663 RGD:1305536 HGNC:26736 "ENST00000298068.10|NM_182765.6" +HGNC:48679 HECTD2-AS1 HECTD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.32 10q23.32 Antisense RNAs 1987 2014-08-01 2014-08-01 100188947 NR_024467 HECTD2-AS1 HGNC:48679 +HGNC:26117 HECTD3 HECT domain E3 ubiquitin protein ligase 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 FLJ21156 HECT domain containing E3 ubiquitin protein ligase 3 HECT domain containing 1959 2005-07-07 2016-03-09 2016-03-09 79654 ENSG00000126107 OTTHUMG00000008587 uc009vxk.4 BC019105 NM_024602 CCDS41318 Q5T447 18194665 MGI:1923858 RGD:1309823 618638 HGNC:26117 "ENST00000372172.5|NM_024602.6" +HGNC:26611 HECTD4 HECT domain E3 ubiquitin protein ligase 4 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "FLJ34154|KIAA0614" C12orf51 "chromosome 12 open reading frame 51|HECT domain containing E3 ubiquitin protein ligase 4" "MicroRNA protein coding host genes|HECT domain containing" "1691|1959" 2006-01-24 2012-08-14 2016-03-09 2020-06-09 283450 ENSG00000173064 OTTHUMG00000150719 uc058tks.2 AK091473 NM_001109662 Q9Y4D8 21270382 MGI:3647820 RGD:1309762 HGNC:26611 "ENST00000682272.1|NM_001388303.1" +HGNC:22195 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 7p14.1-p13 07p14.1-p13 "KIAA0322|NEDL1" "C2 domain containing|MicroRNA protein coding host genes|HECT domain containing" "823|1691|1959" 2004-12-13 2018-02-13 23072 ENSG00000002746 OTTHUMG00000128917 uc003tid.2 AB048365 NM_015052 "CCDS69286|CCDS5469" Q76N89 "12690205|14684739" MGI:2444115 RGD:1561038 610384 HGNC:22195 "ENST00000395891.7|NM_015052.5" +HGNC:41465 HECW1-IT1 HECW1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 HECW1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2017-06-09 100127950 ENSG00000181211 OTTHUMG00000155204 uc003tif.1 NR_135295 HECW1-IT1 HGNC:41465 +HGNC:29853 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "KIAA1301|NEDL2" "C2 domain containing|HECT domain containing" "823|1959" 2004-12-13 2021-05-26 57520 ENSG00000138411 OTTHUMG00000154435 uc002utm.2 AL390186 NM_020760 CCDS33354 Q9P2P5 "10718198|12890487" MGI:2685817 RGD:1593244 617245 HGNC:29853 "ENST00000644978.2|NM_001348768.2" HGNC:29853 +HGNC:54062 HECW2-AS1 HECW2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 Antisense RNAs 1987 2018-09-27 2018-09-27 101927482 ENSG00000229056 NR_110225 HGNC:54062 +HGNC:29227 HEG1 heart development protein with EGF like domains 1 protein-coding gene gene with protein product Approved 3q21.2 03q21.2 "KIAA1237|HEG" heart of glass "HEG homolog 1 (zebrafish)|heart development protein with EGF-like domains 1" 2005-03-01 2016-01-21 2018-11-16 57493 ENSG00000173706 OTTHUMG00000159486 uc003ehs.4 AK074987 NM_020733 CCDS46898 Q9ULI3 "10574462|19151727|23007647|26780829|28361969" MGI:1924696 RGD:1564641 614182 HGNC:29227 "ENST00000311127.9|NM_020733.2" +HGNC:45049 HEIH hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 "LINC-HEIH|lncRNA-HEIH|LINC00848|HCCAT2" "long intergenic non-protein coding RNA 848|highly expressed in hepatocellular carcinoma long non-coding RNA|hepatocellular carcinoma associated transcript 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-03-22 2013-05-23 2016-11-24 100859930 ENSG00000278970 OTTHUMG00000162271 uc003mmj.4 BC019622 NR_045680 "21769904|23359273" 618615 lncrna-heih HEIH HGNC:45049 +HGNC:17196 HELB DNA helicase B protein-coding gene gene with protein product Approved 12q14.3 12q14.3 helicase (DNA) B 2004-03-25 2016-06-21 2016-10-05 92797 ENSG00000127311 OTTHUMG00000169006 uc058qna.1 AF319995 NM_001370285 CCDS8976 Q8NG08 12181327 MGI:2152895 RGD:1560103 614539 HGNC:17196 "ENST00000247815.9|NM_001370285.1" +HGNC:43984 HELLPAR HELLP associated long non-coding RNA non-coding RNA RNA, long non-coding Approved 12q23.2 12q23.2 LINC-HELLP long intergenic non-protein coding RNA associated with HELLP syndrome Long non-coding RNAs with non-systematic symbols 1992 2012-11-05 2012-11-08 2016-11-24 101101692 ENSG00000281344 OTTHUMG00000189570 uc058skb.1 JX088243 23093777 614985 325025 lnchellp +HGNC:4861 HELLS helicase, lymphoid specific protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "PASG|SMARCA6|LSH|Nbla10143" "SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6|proliferation-associated SNF2-like protein" DNA helicases 1167 1998-07-15 2017-05-12 2017-05-12 3070 ENSG00000119969 OTTHUMG00000018793 uc001kjt.5 AF155827 NM_018063 "CCDS7434|CCDS73163|CCDS73162|CCDS73165" Q9NRZ9 "9878251|10910076" MGI:106209 RGD:1309820 603946 436818 HGNC:4861 "ENST00000348459.10|NM_018063.5" HGNC:4861 +HGNC:18536 HELQ helicase, POLQ like protein-coding gene gene with protein product Approved 4q21.23 04q21.23 Hel308 DNA helicases 1167 2009-02-26 2017-06-13 2017-06-13 113510 ENSG00000163312 OTTHUMG00000130423 uc003hom.4 AF436845 NM_133636 "CCDS3603|CCDS75158" Q8TDG4 11751861 MGI:2176740 RGD:1560216 606769 HGNC:18536 "ENST00000295488.8|NM_133636.5" +HGNC:33783 HELT helt bHLH transcription factor protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "HESL|HCM1228|Mgn|bHLHb44|MEGANE" "megane bHLH factor|HES-like" "Hey-like transcription factor (zebrafish)|HES/HEY-like transcription factor" Basic helix-loop-helix proteins 420 2008-04-21 2011-09-12 2014-11-19 391723 ENSG00000187821 OTTHUMG00000160484 uc011cko.3 BC144567 NM_001300781 "CCDS75214|CCDS75215" A6NFD8 "14764602|17611227" MGI:3040955 RGD:1564073 617546 HGNC:33783 "ENST00000515777.6|NM_001300781.2" +HGNC:16878 HELZ helicase with zinc finger protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "KIAA0054|HUMORF5|DHRC" down-regulated in human cancers "Zinc fingers CCCH-type|UPF1 like RNA helicases" "73|1169" 2002-02-15 2013-01-18 9931 ENSG00000198265 OTTHUMG00000179555 uc002jfx.5 D29677 NM_014877 "CCDS82192|CCDS42374" P42694 "10471385|12691822" MGI:1925705 RGD:1307049 606699 HGNC:16878 "ENST00000358691.10|NM_014877.4" +HGNC:55319 HELZ-AS1 HELZ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q24.2 17q24.2 Antisense RNAs 1987 2020-10-21 2020-10-21 101928021 ENSG00000266473 NR_136398 +HGNC:30021 HELZ2 helicase with zinc finger 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "PDIP1|PRIC285|KIAA1769" "peroxisomal proliferator activated receptor A interacting complex 285|PPARG-DBD-interacting protein 1" helicase with zinc finger 2, transcriptional coactivator UPF1 like RNA helicases 1169 2012-09-26 2016-04-05 2016-04-05 85441 ENSG00000130589 OTTHUMG00000032969 uc061ynp.1 AB201715 NM_001037335 "CCDS33508|CCDS13527" Q9BYK8 "11214970|12189208|16239304" MGI:2385169 RGD:1306056 611265 HGNC:30021 +HGNC:17509 HEMGN hemogen protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "EDAG|CT155|NDR" 2002-06-11 2014-11-19 55363 ENSG00000136929 OTTHUMG00000020336 uc004axz.5 AF228713 NM_197978 CCDS6731 Q9BXL5 MGI:2136910 RGD:621569 610715 HGNC:17509 "ENST00000616898.2|NM_197978.3" +HGNC:24923 HEMK1 HemK methyltransferase family member 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MTQ1 MTRF1L release factor glutamine methyltransferase 7BS protein methyltransferases 2058 2004-07-12 2022-03-30 51409 ENSG00000114735 OTTHUMG00000156849 uc003dau.4 AF172244 NM_016173 CCDS2830 Q9Y5R4 "10690633|35260756" MGI:1916786 RGD:1308293 618609 HGNC:24923 "ENST00000232854.9|NM_016173.5" +HGNC:26400 HENMT1 HEN methyltransferase 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ30525|HEN1" hua enhancer 1 homolog 1 (Arabidopsis) C1orf59 "chromosome 1 open reading frame 59|HEN1 methyltransferase homolog 1 (Arabidopsis)|HEN1 methyltransferase homolog 1" 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2005-05-13 2011-01-28 2017-05-16 2017-05-16 113802 ENSG00000162639 OTTHUMG00000011123 uc001dvu.5 NM_144584 CCDS787 Q5T8I9 26496356 MGI:1913965 RGD:1306230 612178 HGNC:26400 "ENST00000651461.1|NM_001102592.2" +HGNC:26361 HEPACAM hepatic and glial cell adhesion molecule protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FLJ25530|GLIALCAM" glial cell adhesion molecule hepatocyte cell adhesion molecule "V-set domain containing|Ig-like cell adhesion molecule family" "590|1410" 2007-01-22 2011-02-11 2021-05-26 220296 ENSG00000165478 OTTHUMG00000165938 uc001qbk.4 AK098396 NM_152722 CCDS8456 Q14CZ8 "15885354|15917256" MGI:1920177 RGD:1306811 611642 264482 HGNC:26361 "ENST00000298251.5|NM_152722.5" HGNC:26361 +HGNC:27364 HEPACAM2 HEPACAM family member 2 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 FLJ38683 "V-set domain containing|I-set domain containing" "590|593" 2008-07-11 2008-07-11 2016-10-05 253012 ENSG00000188175 OTTHUMG00000131732 uc003umm.5 AK096002 NM_198151 "CCDS75631|CCDS5629|CCDS43616|CCDS75632" A8MVW5 12975309 MGI:2141520 RGD:1305697 614133 HGNC:27364 "ENST00000394468.7|NM_001039372.4" HGNC:27364 +HGNC:4866 HEPH hephaestin protein-coding gene gene with protein product Approved Xq12 Xq12 "KIAA0698|CPL" 1999-05-07 2020-04-02 9843 ENSG00000089472 OTTHUMG00000021732 uc011moz.4 AB014598 NM_138737 CCDS14385 Q9BQS7 "9988272|9734811" MGI:1332240 RGD:71060 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HEPH 300167 470440 HGNC:4866 "ENST00000343002.7|NM_001367233.3" HGNC:4866 +HGNC:30477 HEPHL1 hephaestin like 1 protein-coding gene gene with protein product Approved 11q21 11q21 "DKFZp686F22190|Zp" zyklopen 2004-11-03 2015-11-23 2022-03-30 341208 ENSG00000181333 OTTHUMG00000167751 uc001pep.3 BX641008 NM_001098672 CCDS44710 Q6MZM0 "31125343|34114013" MGI:2685355 RGD:1564835 618455 HGNC:30477 "ENST00000315765.10|NM_001098672.2" +HGNC:34400 HEPN1 hepatocellular carcinoma, down-regulated 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 cancer susceptibility gene HEPN1 HEPACAM opposite strand 1 2008-07-11 2011-02-11 2016-10-05 641654 ENSG00000221932 OTTHUMG00000165939 uc001qbj.2 BC148521 NM_001037558 CCDS41729 Q6WQI6 "12971969|23548416" 611641 HGNC:34400 +HGNC:4867 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "p532|p619" hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 "WD repeat domain containing|HECT and RLD domain containing E3 ubiquitin protein ligases" "362|1885" 1999-01-07 2012-02-23 2021-05-26 8925 ENSG00000103657 OTTHUMG00000172433 uc002amp.4 U50078 NM_003922 CCDS45277 Q15751 "8861955|9233772" MGI:2384589 RGD:1306366 605109 460721 HGNC:4867 "ENST00000443617.7|NM_003922.4" HGNC:4867 +HGNC:4868 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "jdf2|p528|D15F37S1" hect domain and RLD 2 "Zinc fingers ZZ-type|HECT and RLD domain containing E3 ubiquitin protein ligases" "91|1885" 1999-01-07 2012-02-23 2021-05-26 8924 ENSG00000128731 OTTHUMG00000129251 uc001zbj.5 AF071172 NM_004667 CCDS10021 O95714 9949213 MGI:103234 RGD:1307989 605837 331681 HGNC:4868 "ENST00000261609.13|NM_004667.6" HGNC:4868 +HGNC:4869 HERC2P1 HERC2 pseudogene 1 pseudogene pseudogene Approved 15q13.1 15q13.1 D15F37S2 hect domain and RLD 2 pseudogene 1 1999-01-07 2021-07-06 2021-07-06 8917 ENSG00000261401 OTTHUMG00000175870 NG_005644 9730612 PGOHUM00000247018 HGNC:4869 +HGNC:4870 HERC2P2 HERC2 pseudogene 2 pseudogene pseudogene Approved 15q11.2 15q11.2 D15F37S3 hect domain and RLD 2 pseudogene 2 1999-01-07 2021-07-06 2021-07-06 400322 ENSG00000276550 OTTHUMG00000188262 AF041080 NR_002824 9730612 PGOHUM00000293127 HGNC:4870 +HGNC:4871 HERC2P3 HERC2 pseudogene 3 pseudogene pseudogene Approved 15q11.1-q11.2 15q11.1-q11.2 "D15F37S4|LOC283755" hect domain and RLD 2 pseudogene 3 1999-01-07 2021-07-06 2021-07-06 283755 ENSG00000180229 OTTHUMG00000157175 AF041081 NG_008269 Q9BVR0 9730612 PGOHUM00000292791 HGNC:4871 +HGNC:4872 HERC2P4 HERC2 pseudogene 4 pseudogene pseudogene Approved 16p11.2 16p11.2 D16F37S5 hect domain and RLD 2 pseudogene 4 1999-01-07 2021-07-06 2021-07-06 100289574 ENSG00000230267 OTTHUMG00000176563 NR_002827 PGOHUM00000293522 HGNC:4872 +HGNC:4873 HERC2P5 HERC2 pseudogene 5 pseudogene pseudogene Approved 16p11.2 16p11.2 D16F37S6 hect domain and RLD 2 pseudogene 5 1999-01-07 2021-07-06 2021-07-06 388254 ENSG00000260644 OTTHUMG00000176513 NG_005349 PGOHUM00000293804 HGNC:4873 +HGNC:4874 HERC2P6 HERC2 pseudogene 6 pseudogene pseudogene Approved 15q11.2 15q11.2 hect domain and RLD 2 pseudogene 6 1999-01-07 2021-07-06 2021-07-06 8918 ENSG00000261418 OTTHUMG00000176416 NG_005348 PGOHUM00000247013 HGNC:4874 +HGNC:4875 HERC2P7 HERC2 pseudogene 7 pseudogene pseudogene Approved 15q11.2 15q11.2 hect domain and RLD 2 pseudogene 7 1999-01-07 2021-07-06 2021-07-06 100132101 ENSG00000281909 OTTHUMG00000190239 AF071178 NR_036470 PGOHUM00000307531 HGNC:4875 +HGNC:38747 HERC2P8 HERC2 pseudogene 8 pseudogene pseudogene Approved 16p11.2 16p11.2 hect domain and RLD 2 pseudogene 8 2010-08-11 2021-07-06 2021-07-06 440366 ENSG00000261599 OTTHUMG00000176452 NG_009637 PGOHUM00000293540 HGNC:38747 +HGNC:30495 HERC2P9 HERC2 pseudogene 9 pseudogene pseudogene Approved 15q13.1 15q13.1 FLJ59185 hect domain and RLD 2 pseudogene 9 2010-08-11 2021-07-06 2021-07-06 440248 ENSG00000206149 OTTHUMG00000167114 BC047911 NR_036443 PGOHUM00000293156 HGNC:30495 +HGNC:39056 HERC2P10 HERC2 pseudogene 10 pseudogene pseudogene Approved 15q13.2 15q13.2 hect domain and RLD 2 pseudogene 10 2010-09-29 2021-07-06 2021-07-06 390561 ENSG00000259845 OTTHUMG00000175658 NG_030002 PGOHUM00000247064 HGNC:39056 +HGNC:49882 HERC2P11 HERC2 pseudogene 11 pseudogene pseudogene Approved 15q13.1 15q13.1 hect domain and RLD 2 pseudogene 11 2014-03-18 2021-07-06 2021-07-06 100996738 ENSG00000261581 OTTHUMG00000175881 NR_145479 PGOHUM00000246695 HGNC:49882 +HGNC:4876 HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 KIAA0032 hect domain and RLD 3 HECT and RLD domain containing E3 ubiquitin protein ligases 1885 1999-01-07 2012-02-23 2016-10-05 8916 ENSG00000138641 OTTHUMG00000150436 uc003hrw.2 D25215 NM_014606 "CCDS34028|CCDS82939" Q15034 10702688 MGI:1921248 RGD:1307803 605200 HGNC:4876 "ENST00000402738.6|NM_014606.3" +HGNC:24521 HERC4 HECT and RLD domain containing E3 ubiquitin protein ligase 4 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "DKFZP564G092|KIAA1593" hect domain and RLD 4 HECT and RLD domain containing E3 ubiquitin protein ligases 1885 2004-05-27 2012-02-23 2015-09-01 26091 ENSG00000148634 OTTHUMG00000018343 uc001jnh.5 AY221963 NM_015601 "CCDS7274|CCDS60542|CCDS60541|CCDS41533" Q5GLZ8 10997877 MGI:1914595 RGD:1310971 609248 HGNC:24521 "ENST00000373700.9|NM_015601.4" +HGNC:24368 HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 CEB1 hect domain and RLD 5 HECT and RLD domain containing E3 ubiquitin protein ligases 1885 2004-06-09 2012-02-23 2015-02-16 51191 ENSG00000138646 OTTHUMG00000130953 uc003hrt.5 AB027289 NM_016323 CCDS3630 Q9UII4 10581175 608242 HGNC:24368 "ENST00000264350.8|NM_016323.4" +HGNC:26072 HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 FLJ20637 hect domain and RLD 6 HECT and RLD domain containing E3 ubiquitin protein ligases 1885 2004-06-03 2012-02-23 2016-10-05 55008 ENSG00000138642 OTTHUMG00000160983 uc011cdi.3 AF336798 NM_001165136 "CCDS54777|CCDS47098" Q8IVU3 MGI:1914388 RGD:1561739 609249 HGNC:26072 "ENST00000264346.12|NM_017912.4" +HGNC:13744 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 protein-coding gene gene with protein product Approved 16q13 16q13 "KIAA0025|Mif1|HERP|SUP" homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 2000-11-29 2016-03-21 2016-03-21 9709 ENSG00000051108 OTTHUMG00000133276 uc002eke.3 AB034989 NM_001010989 "CCDS10771|CCDS45492" Q15011 "10922362|10708769" MGI:1927406 RGD:620818 HERPUD1 608070 HGNC:13744 "ENST00000439977.7|NM_014685.4" +HGNC:21915 HERPUD2 HERPUD family member 2 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 FLJ22313 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2 2006-03-20 2006-03-20 2014-11-18 64224 ENSG00000122557 OTTHUMG00000128687 uc003tet.4 BC020264 NM_022373 CCDS5446 Q9BSE4 MGI:1915393 RGD:1307343 HGNC:21915 "ENST00000311350.8|NM_022373.5" +HGNC:55258 HERPUD2-AS1 HERPUD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.2 07p14.2 Antisense RNAs 1987 2020-09-25 2020-09-25 101930085 ENSG00000271122 NR_136255 +HGNC:5192 HES1 hes family bHLH transcription factor 1 protein-coding gene gene with protein product Approved 3q29 03q29 "FLJ20408|HES-1|bHLHb39" HRY "hairy homolog (Drosophila)|hairy and enhancer of split 1, (Drosophila)" Basic helix-loop-helix proteins 420 1993-09-21 2003-01-10 2013-10-17 2020-05-04 3280 ENSG00000114315 OTTHUMG00000155984 uc003ftq.3 L19314 NM_005524 CCDS3305 Q14469 8020957 MGI:104853 RGD:62081 139605 470442 HGNC:5192 "ENST00000232424.4|NM_005524.4" +HGNC:16005 HES2 hes family bHLH transcription factor 2 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 bHLHb40 hairy and enhancer of split 2 (Drosophila) Basic helix-loop-helix proteins 420 2004-11-12 2013-10-17 2014-11-19 54626 ENSG00000069812 OTTHUMG00000000752 uc001amx.4 AL031848 NM_019089 CCDS30574 Q9Y543 15254753 MGI:1098624 RGD:62082 609970 HGNC:16005 "ENST00000377834.8|NM_019089.5" +HGNC:26226 HES3 hes family bHLH transcription factor 3 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 bHLHb43 hairy and enhancer of split 3 (Drosophila) Basic helix-loop-helix proteins 420 2005-05-17 2013-10-17 2014-11-19 390992 ENSG00000173673 OTTHUMG00000001271 uc009vly.2 NM_001024598 CCDS41238 Q5TGS1 MGI:104877 RGD:621339 609971 HGNC:26226 "ENST00000377898.4|NM_001024598.4" +HGNC:24149 HES4 hes family bHLH transcription factor 4 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 bHLHb42 hairy and enhancer of split 4 (Drosophila) Basic helix-loop-helix proteins 420 2004-09-30 2013-10-17 2016-10-05 57801 ENSG00000188290 OTTHUMG00000040758 uc001aci.3 BC012351 NM_021170 "CCDS44034|CCDS5" Q9HCC6 "11260262|15254753" 608060 HGNC:24149 "ENST00000304952.11|NM_021170.4" +HGNC:19764 HES5 hes family bHLH transcription factor 5 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 bHLHb38 hairy and enhancer of split 5 (Drosophila) Basic helix-loop-helix proteins 420 2002-11-26 2013-10-17 2020-04-20 388585 ENSG00000197921 OTTHUMG00000000793 uc001ajn.3 AL139246 NM_001010926 CCDS41233 Q5TA89 7836401 MGI:104876 RGD:621340 607348 HGNC:19764 "ENST00000378453.4|NM_001010926.4" +HGNC:18254 HES6 hes family bHLH transcription factor 6 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 bHLHb41 hairy and enhancer of split 6 (Drosophila) Basic helix-loop-helix proteins 420 2002-04-03 2013-10-17 2014-11-19 55502 ENSG00000144485 OTTHUMG00000133340 uc002vxz.4 AB035179 NM_018645 "CCDS46556|CCDS63180|CCDS2527" Q96HZ4 10851137 MGI:1859852 RGD:1312047 610331 HGNC:18254 "ENST00000272937.10|NM_018645.6" +HGNC:15977 HES7 hes family bHLH transcription factor 7 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 bHLHb37 bHLH factor Hes7 hairy and enhancer of split 7 (Drosophila) Basic helix-loop-helix proteins 420 2001-06-28 2013-10-17 2021-05-26 84667 ENSG00000179111 OTTHUMG00000178316 uc002gkc.4 AB049064 NM_032580 "CCDS42258|CCDS54085" Q9BYE0 11260262 MGI:2135679 RGD:1305914 608059 165577 HGNC:15977 "ENST00000541682.7|NM_001165967.2" HGNC:15977 +HGNC:4877 HESX1 HESX homeobox 1 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "RPX|ANF" homeobox, ES cell expressed 1 PRD class homeoboxes and pseudogenes 521 1998-11-19 2007-02-16 2014-11-19 8820 ENSG00000163666 OTTHUMG00000158597 uc003din.5 AF059734 NM_001376058 CCDS2881 Q9UBX0 "9373136|9620767|7876132" MGI:96071 RGD:1563858 601802 8440 122398 HGNC:4877 "ENST00000295934.8|NM_003865.3" HGNC:4877 +HGNC:4878 HEXA hexosaminidase subunit alpha protein-coding gene gene with protein product Approved 15q23 15q23 "Tay Sachs disease|GM2 gangliosidosis|beta-hexosaminidase subunit alpha" hexosaminidase A (alpha polypeptide) Hexosaminidases 1642 2001-06-22 2016-01-22 2021-05-26 3073 ENSG00000213614 OTTHUMG00000133445 uc002aun.5 M13520 NM_000520 "CCDS10243|CCDS81905" P06865 "2952641|3013851" MGI:96073 RGD:2792 "Hexosaminidase A; Tay-Sachs Disease|http://www.hexdb.mcgill.ca|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/" 606869 122402 3.2.1.52 HGNC:4878 "ENST00000268097.10|NM_000520.6" HGNC:4878 +HGNC:25810 HEXA-AS1 HEXA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 FLJ13315 C15orf34 "chromosome 15 open reading frame 34|HEXA antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-10-20 2012-05-30 2012-08-15 2012-10-12 80072 ENSG00000260339 OTTHUMG00000177184 uc010ukp.1 NR_027262 Q9H8Q6 12477932 HEXA-AS1 HGNC:25810 +HGNC:4879 HEXB hexosaminidase subunit beta protein-coding gene gene with protein product Approved 5q13.3 05q13.3 beta-hexosaminidase subunit beta hexosaminidase B (beta polypeptide) Hexosaminidases 1642 2001-06-22 2016-01-22 2021-05-26 3074 ENSG00000049860 OTTHUMG00000102057 uc003kdf.4 M13519 NM_000521 "CCDS4022|CCDS78021" P07686 "2579389|3013851" MGI:96074 RGD:1307607 HEXB Locus Database|http://www.hexdb.mcgill.ca 606873 122404 3.2.1.52 HGNC:4879 "ENST00000261416.12|NM_000521.4" HGNC:4879 +HGNC:26307 HEXD hexosaminidase D protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ23825 hexosaminidase D, cytosolic HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing Hexosaminidases 1642 2006-01-12 2018-08-15 2016-03-30 2018-08-15 284004 ENSG00000169660 OTTHUMG00000178836 uc002kev.5 AK074405 NM_173620 "CCDS42402|CCDS82231" Q8WVB3 19040401 MGI:3605542 RGD:2302323 616864 3.2.1.52 HGNC:26307 "ENST00000327949.15|NM_001330542.2" +HGNC:43650 HEXD-IT1 HEXD intronic transcript 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 HEXDC-IT1 "HEXDC intronic transcript 1 (non-protein coding)|HEXDC intronic transcript 1" Intronic transcripts 1989 2011-12-19 2018-08-15 2018-08-15 2018-08-15 100505970 ENSG00000279066 OTTHUMG00000178837 uc060lzv.1 AK129961 NR_170223 +HGNC:24953 HEXIM1 HEXIM P-TEFb complex subunit 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CLP-1|HIS1|MAQ1|EDG1" hexamethylene bisacetamide inducible 1 P-TEFb complex subunits 1281 2005-06-27 2018-11-15 2020-03-31 10614 ENSG00000186834 OTTHUMG00000180112 uc002iig.4 AB021179 NM_006460 CCDS11495 O94992 "12119119|12832472" MGI:2385923 RGD:1559851 607328 HGNC:24953 "ENST00000332499.4|NM_006460.3" +HGNC:28591 HEXIM2 HEXIM P-TEFb complex subunit 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ32384 "hexamethylene bis-acetamide inducible 2|hexamethylene bisacetamide inducible 2" P-TEFb complex subunits 1281 2005-06-27 2018-11-15 2018-11-15 124790 ENSG00000168517 OTTHUMG00000180193 uc002iih.2 AK056946 NM_144608 CCDS11496 Q96MH2 "12832472|15713662" MGI:1918309 RGD:1311635 615695 HGNC:28591 "ENST00000589230.6|NM_001303441.2" +HGNC:55857 HEXIM2-AS1 HEXIM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Antisense RNAs 1987 2021-09-03 2021-09-03 112268203 ENSG00000224505 +HGNC:4880 HEY1 hes related family bHLH transcription factor with YRPW motif 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "HESR-1|CHF2|HESR1|HRT-1|CHF-2|HERP2|bHLHb31" "hairy/enhancer-of-split related with YRPW motif 1|hes-related family bHLH transcription factor with YRPW motif 1" Basic helix-loop-helix proteins 420 1999-12-07 2016-02-23 2016-02-23 23462 ENSG00000164683 OTTHUMG00000164641 uc003ybm.3 AF151522 NM_012258 "CCDS43749|CCDS6225" Q9Y5J3 "10415358|10403790" MGI:1341800 RGD:621403 HEY1 602953 HGNC:4880 "ENST00000354724.8|NM_012258.4" +HGNC:4881 HEY2 hes related family bHLH transcription factor with YRPW motif 2 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "bHLHb32|HERP1|HESR2" "hairy/enhancer-of-split related with YRPW motif 2|hes-related family bHLH transcription factor with YRPW motif 2" Basic helix-loop-helix proteins 420 1999-10-12 2016-02-23 2016-10-05 23493 ENSG00000135547 OTTHUMG00000015512 uc003qad.4 AJ249545 NM_012259 CCDS5131 Q9UBP5 10415358 MGI:1341884 RGD:621405 604674 470446 HGNC:4881 "ENST00000368364.4|NM_012259.3" HGNC:4881 +HGNC:55652 HEY2-AS1 HEY2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22.31 06q22.31 Antisense RNAs 1987 2021-06-28 2021-06-28 105377986 ENSG00000237742 XR_001744330 +HGNC:4882 HEYL hes related family bHLH transcription factor with YRPW motif like protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "bHLHb33|HEY3|HESR3" hairy/enhancer-of-split related with YRPW motif 3 "hairy/enhancer-of-split related with YRPW motif-like|hes-related family bHLH transcription factor with YRPW motif-like" Basic helix-loop-helix proteins 420 1999-12-07 2019-02-18 2019-02-18 26508 ENSG00000163909 OTTHUMG00000000458 uc001cdp.4 BC006087 NM_014571 CCDS439 Q9NQ87 "10415358|10860664" MGI:1860511 RGD:1305022 609034 HGNC:4882 "ENST00000372852.4|NM_014571.4" +HGNC:4886 HFE homeostatic iron regulator protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "HLA-H|HFE1" high Fe hemochromatosis C1-set domain containing 591 1986-01-01 2018-03-01 2021-05-26 3077 ENSG00000010704 OTTHUMG00000016348 uc003nfx.2 NM_000410 "CCDS4579|CCDS4581|CCDS4578|CCDS4582|CCDS47386|CCDS47387|CCDS54974|CCDS54975|CCDS75412|CCDS4580" Q30201 "3460331|28474781|9054933" MGI:109191 RGD:2793 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_748|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_748.xml" 613609 123411 HGNC:4886 "ENST00000357618.10|NM_000410.4" HGNC:4886 +HGNC:55168 HFE-AS1 HFE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.2 06p22.2 Antisense RNAs 1987 2020-07-22 2020-07-22 108783645 NR_144383 +HGNC:20193 HFM1 helicase for meiosis 1 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "MER3|FLJ39011|FLJ36760" SEC63D1 "SEC63 domain containing 1|HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)|HFM1, ATP dependent DNA helicase homolog" RNA helicases 1168 2005-07-29 2019-01-31 2019-01-31 164045 ENSG00000162669 OTTHUMG00000010093 uc001doa.4 AB204867 NM_001017975 CCDS30769 A2PYH4 "14702039|17286053|23555294" MGI:3036246 RGD:1584010 615684 400664 HGNC:20193 "ENST00000370425.8|NM_001017975.6" HGNC:20193 +HGNC:4892 HGD homogentisate 1,2-dioxygenase protein-coding gene gene with protein product Approved 3q13.33 03q13.33 HGO homogentisate oxidase AKU homogentisate 1,2-dioxygenase (homogentisate oxidase) 1993-07-26 2010-04-27 2016-10-05 3081 ENSG00000113924 OTTHUMG00000159441 uc003edw.4 NM_000187 CCDS3000 Q93099 8188241 MGI:96078 RGD:1308757 607474 122408 1.13.11.5 HGNC:4892 "ENST00000283871.10|NM_000187.4" HGNC:4892 +HGNC:4893 HGF hepatocyte growth factor protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "SF|F-TCF|HGFB|HPTA" "hepatopoietin A|fibroblast-derived tumor cytotoxic factor|scatter factor|lung fibroblast-derived mitogen" DFNB39 "deafness, autosomal recessive 39|hepatocyte growth factor (hepapoietin A; scatter factor)" 1991-06-07 2016-02-03 2021-05-26 3082 ENSG00000019991 OTTHUMG00000023804 uc003uhl.4 NM_000601 "CCDS47626|CCDS5597|CCDS47629|CCDS47628|CCDS47627" P14210 "1837206|19576567" MGI:96079 RGD:2794 142409 201589 S01.976 ligandId:4950 HGNC:4893 "ENST00000222390.11|NM_000601.6" HGNC:4893 +HGNC:4894 HGFAC HGF activator protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "HGFAP|HGFA" 1998-06-25 2016-10-05 3083 ENSG00000109758 OTTHUMG00000090281 uc003ghc.4 D14012 NM_001297439 "CCDS3369|CCDS75098" Q04756 "7683665|8226803" MGI:1859281 RGD:70909 604552 S01.228 3.4.21.- HGNC:4894 "ENST00000382774.8|NM_001528.4" +HGNC:24161 HGH1 HGH1 homolog protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FLJ40907|LOC51236|Brp16" brain protein 16 "C8orf30A|FAM203B|C8orf30B|FAM203A" "chromosome 8 open reading frame 30A|family with sequence similarity 203, member B|chromosome 8 open reading frame 30B|family with sequence similarity 203, member A|HGH1 homolog (S. cerevisiae)" Armadillo like helical domain containing 1492 2005-10-06 2014-06-19 2015-07-03 2016-06-30 51236 ENSG00000235173 OTTHUMG00000165246 AF151022 NM_016458 CCDS6417 Q9BTY7 MGI:1930628 RGD:1359226 HGNC:24161 "ENST00000347708.5|NM_016458.4" +HGNC:4897 HGS hepatocyte growth factor-regulated tyrosine kinase substrate protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "Hrs|ZFYVE8|Vps27" "Zinc fingers FYVE-type|ESCRT-0|MicroRNA protein coding host genes" "81|1115|1691" 1999-01-07 2018-04-09 9146 ENSG00000185359 OTTHUMG00000178109 uc002kbg.4 D84064 NM_004712 CCDS11784 O14964 "9407053|9630564" MGI:104681 RGD:69225 604375 HGNC:4897 "ENST00000329138.9|NM_004712.5" +HGNC:26527 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase protein-coding gene gene with protein product Approved 8p11.21-p11.1 08p11.21-p11.1 "FLJ32731|HGNAT" TMEM76 transmembrane protein 76 2005-09-23 2006-08-16 2006-09-05 2021-05-26 138050 ENSG00000165102 OTTHUMG00000164102 uc003xpx.5 NM_152419 CCDS47852 Q68CP4 "17033958|16960811" MGI:1196297 RGD:1560755 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HGSNAT 610453 122412 2.3.1.78 HGNC:26527 "ENST00000379644.9|NM_152419.3" HGNC:26527 +HGNC:18270 HHAT hedgehog acyltransferase protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "FLJ10724|MART-2|MART2|Skn|ski|rasp|sit|GUP2" protein-cysteine N-palmitoyltransferase HHAT Membrane bound O-acyltransferases 1036 2004-09-15 2020-03-11 55733 ENSG00000054392 OTTHUMG00000036447 uc009xcx.3 AK001586 NM_018194 "CCDS53471|CCDS53472|CCDS1495|CCDS53473" Q5VTY9 11160356 MGI:2444681 RGD:1311746 605743 404789 HGNC:18270 "ENST00000261458.8|NM_018194.6" HGNC:18270 +HGNC:13242 HHATL hedgehog acyltransferase like protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "KIAA1173|OACT3|MSTP002|MBOAT3" "membrane bound O-acyltransferase domain containing 3|Protein-cysteine N-palmitoyltransferase HHAT-like protein" "C3orf3|GUP1" "chromosome 3 open reading frame 3|GUP1, glycerol uptake/transporter homolog (yeast)" Membrane bound O-acyltransferases 1036 2004-11-26 2007-02-06 2017-06-13 2020-03-11 57467 ENSG00000010282 OTTHUMG00000133043 uc003clx.3 AB042554 NM_020707 CCDS2704 Q9HCP6 11374908 MGI:1922020 RGD:1311911 608116 HGNC:13242 "ENST00000441594.6|NM_020707.4" +HGNC:42439 HHATL-AS1 HHATL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 HHATL antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 100874044 ENSG00000230970 OTTHUMG00000156258 uc062irl.1 NR_146957 HHATL-AS1 HGNC:42439 +HGNC:4901 HHEX hematopoietically expressed homeobox protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "HEX|HOX11L-PEN" PRHX NKL subclass homeoboxes and pseudogenes 519 1998-08-04 2007-02-15 2015-08-25 3087 ENSG00000152804 OTTHUMG00000018762 uc001kid.4 Z21533 NM_002729 CCDS7423 Q03014 "8096636|8103988" MGI:96086 RGD:619932 604420 8441 470448 HGNC:4901 "ENST00000282728.10|NM_002729.5" +HGNC:14866 HHIP hedgehog interacting protein protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "HIP|FLJ20992" hedgehog-interacting protein 2002-02-15 2001-11-29 2016-10-05 64399 ENSG00000164161 OTTHUMG00000161428 uc003ijs.3 AK024645 NM_022475 CCDS3762 Q96QV1 "11435703|11731473" MGI:1341847 RGD:1564108 606178 HGNC:14866 "ENST00000296575.8|NM_022475.3" +HGNC:44182 HHIP-AS1 HHIP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 HHIP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 646576 ENSG00000248890 OTTHUMG00000161429 uc062zxw.1 BC039450 NR_037595 HHIP-AS1 HGNC:44182 +HGNC:19710 HHIPL1 HHIP like 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 KIAA1822 "KIAA1822|HHIP-like 1" Scavenger receptor cysteine rich domain containing 1404 2003-11-21 2008-01-16 2016-01-21 2019-08-21 84439 ENSG00000182218 OTTHUMG00000171509 uc010avs.4 AB058725 NM_001127258 "CCDS9953|CCDS45162" Q96JK4 MGI:1919265 RGD:1311698 HGNC:19710 "ENST00000330710.10|NM_001127258.3" +HGNC:25842 HHIPL2 HHIP like 2 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ13840 KIAA1822L "KIAA1822-like|HHIP-like 2" 2005-04-22 2008-01-16 2016-01-21 2016-01-21 79802 ENSG00000143512 OTTHUMG00000037545 uc001hnh.2 BC007638 NM_024746 CCDS1530 Q6UWX4 12975309 MGI:1926022 RGD:1311317 HGNC:25842 "ENST00000343410.7|NM_024746.4" +HGNC:4904 HHLA1 HERV-H LTR-associating 1 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 PLA2L 1999-01-19 2018-07-19 10086 ENSG00000132297 OTTHUMG00000140390 uc064qho.1 AF110315 NM_001145095 C9JL84 10329003 MGI:3615329 604109 HGNC:4904 "ENST00000414222.2|NM_001145095.3" +HGNC:4905 HHLA2 HERV-H LTR-associating 2 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "B7H7|B7-H5|B7y|B7-H7" "V-set domain containing|C1-set domain containing|B7 family" "590|591|1824" 1999-09-07 2020-05-14 11148 ENSG00000114455 OTTHUMG00000159224 uc062mge.1 AF126162 NM_007072 "CCDS74975|CCDS63713|CCDS46883" Q9UM44 "10444326|23784006|22488247" RGD:11472061 604371 HGNC:4905 +HGNC:4906 HHLA3 HERV-H LTR-associating 3 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long non-coding RNAs with non-systematic symbols 1992 1999-09-07 2020-05-13 11147 ENSG00000197568 OTTHUMG00000009346 uc001dfb.4 AF126164 NR_027404 "CCDS649|CCDS30752|CCDS30753" Q9XRX5 10444326 604372 HGNC:4906 +HGNC:40277 HHLA3-AS1 HHLA3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Antisense RNAs 1987 2019-08-14 2019-08-14 102724548 ENSG00000226088 OTTHUMG00000009344 XR_426710 HGNC:40277 +HGNC:4907 HIBADH 3-hydroxyisobutyrate dehydrogenase protein-coding gene gene with protein product Approved 7p15.2 07p15.2 NS5ATP1 1999-08-05 2016-10-05 11112 ENSG00000106049 OTTHUMG00000097035 uc003szf.4 AF529362 NM_152740 CCDS5414 P31937 MGI:1889802 RGD:708399 608475 1.1.1.31 HGNC:4907 "ENST00000265395.7|NM_152740.4" +HGNC:4908 HIBCH 3-hydroxyisobutyryl-CoA hydrolase protein-coding gene gene with protein product Approved 2q32.2 02q32.2 3-hydroxyisobutyryl-Coenzyme A hydrolase 1999-12-07 2010-04-29 2021-05-26 26275 ENSG00000198130 OTTHUMG00000132673 uc002uru.3 U66669 NM_014362 "CCDS46475|CCDS2304" Q6NVY1 8824301 MGI:1923792 RGD:1308392 610690 159703 3.1.2.4 HGNC:4908 "ENST00000359678.10|NM_014362.4" HGNC:4908 +HGNC:4909 HIC1 HIC ZBTB transcriptional repressor 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "ZBTB29|ZNF901" hypermethylated in cancer 1 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1996-03-19 2016-10-03 2021-04-27 3090 ENSG00000177374 OTTHUMG00000177635 uc010cjy.4 NM_006497 "CCDS42230|CCDS42229" Q14526 MGI:1338010 RGD:1307527 603825 122417 HGNC:4909 "ENST00000619757.5|NM_006497.4" +HGNC:18595 HIC2 HIC ZBTB transcriptional repressor 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "KIAA1020|HRG22|ZBTB30|ZNF907" hypermethylated in cancer 2 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2002-04-29 2016-10-03 2021-04-27 23119 ENSG00000169635 OTTHUMG00000150781 uc002zur.5 AB028943 NM_015094 CCDS13789 Q96JB3 11554746 MGI:1929869 RGD:1305338 607712 HGNC:18595 "ENST00000407464.7|NM_015094.3" +HGNC:15736 HID1 HID1 domain containing protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "DMC1|HID-1" downregulated in multiple cancer 1 C17orf28 chromosome 17 open reading frame 28 2001-06-11 2012-10-10 2012-10-10 2014-11-18 283987 ENSG00000167861 OTTHUMG00000166490 uc002jmj.5 NM_030630 CCDS32726 Q8IV36 "11281419|21337012" MGI:2445087 RGD:1311422 605752 470224 HGNC:15736 "ENST00000425042.7|NM_030630.3" +HGNC:51181 HID1-AS1 HID1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 Antisense RNAs 1987 2014-08-01 2014-08-01 102723641 ENSG00000263586 OTTHUMG00000179217 NR_110878 HID1-AS1 HGNC:51181 +HGNC:4910 HIF1A hypoxia inducible factor 1 subunit alpha protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "MOP1|HIF-1alpha|PASD8|HIF1|bHLHe78" "PAS domain-containing protein 8|Class E basic helix-loop-helix protein 78|Member of PAS protein 1" hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1995-03-27 2018-04-23 2022-01-06 3091 ENSG00000100644 OTTHUMG00000140344 uc001xfq.3 U22431 NM_001530 "CCDS9754|CCDS9753" Q16665 "8786149|9079689" MGI:106918 RGD:61928 HIF1A 603348 470450 HGNC:4910 "ENST00000337138.9|NM_001530.4" +HGNC:43014 HIF1A-AS1 HIF1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.2 14q23.2 5'aHIF-1A HIF1A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-16 2012-08-15 2016-11-11 100750246 ENSG00000258777 OTTHUMG00000171134 uc032bdp.1 CN270307 NR_047116 "21897117|24875884" 614528 HGNC:43014 +HGNC:43015 HIF1A-AS2 HIF1A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 14q23.2 14q23.2 "3'aHIF-1A|aHIF" HIF1A antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-09-16 2012-08-15 2019-05-01 100750247 OTTHUMG00000171135 uc059cgn.1 NR_045406 "21897117|27018306" 614529 HIF1A-AS2 HGNC:43015 +HGNC:54284 HIF1A-AS3 HIF1A antisense RNA 3 non-coding RNA RNA, long non-coding Approved 14q23.2 14q23.2 Antisense RNAs 1987 2019-05-01 2019-05-01 105370526 ENSG00000258667 NR_144368 HGNC:54284 +HGNC:17113 HIF1AN hypoxia inducible factor 1 subunit alpha inhibitor protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FLJ20615|DKFZp762F1811|FLJ22027|FIH1" Peptide-aspartate beta-dioxygenase JmjC hydroxylases 1346 2001-11-27 2018-04-23 2018-04-23 55662 ENSG00000166135 OTTHUMG00000018911 uc001krj.5 AK000622 NM_017902 CCDS7498 Q9NWT6 11641274 MGI:2442345 RGD:1308281 606615 470452 1.14.11.16 HGNC:17113 "ENST00000299163.7|NM_017902.3" +HGNC:43016 HIF1AP1 HIF1AP pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) pseudogene 1 2011-09-16 2018-04-23 2018-04-23 100874523 ENSG00000258978 OTTHUMG00000171769 NG_051093 PGOHUM00000292409 HGNC:43016 +HGNC:15825 HIF3A hypoxia inducible factor 3 subunit alpha protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "IPAS|MOP7|PASD7|bHLHe17" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2001-06-13 2018-04-23 2018-04-23 64344 ENSG00000124440 OTTHUMG00000141296 uc002peh.3 AK027725 NM_022462 "CCDS42580|CCDS12682|CCDS12681" Q9Y2N7 "11573933|11734856" MGI:1859778 RGD:70332 609976 470454 HGNC:15825 "ENST00000377670.9|NM_152795.4" +HGNC:29527 HIGD1A HIG1 hypoxia inducible domain family member 1A protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "HIG1|DKFZP564K247|RCF1A" hypoxia inducible gene 1 "HIG1 domain family, member 1A|HIG1 hypoxia inducible domain family, member 1A" Mitochondrial respiratory chain complex assembly factors 645 2005-08-31 2015-11-18 2016-06-15 25994 ENSG00000181061 OTTHUMG00000190394 uc003cmb.5 BC009583 NM_014056 "CCDS43073|CCDS46806" Q9Y241 "22342701|25605899" MGI:1930666 RGD:620215 618623 HGNC:29527 "ENST00000321331.12|NM_014056.4" +HGNC:22804 HIGD1AP1 HIG1 hypoxia inducible domain family member 1A pseudogene 1 pseudogene pseudogene Approved 12q13.13 12q13.13 "HIGD1D|HIGD1DP" "HIG1 hypoxia inducible domain family, member 1D|HIG1 hypoxia inducible domain family, member 1D, pseudogene|HIG1 hypoxia inducible domain family, member 1A pseudogene 1" 2005-08-31 2011-08-10 2015-11-18 2020-04-20 100129086 ENSG00000258016 OTTHUMG00000170023 DQ052161 NG_009611 PGOHUM00000239792 HGNC:22804 +HGNC:42642 HIGD1AP2 HIG1 hypoxia inducible domain family member 1A pseudogene 2 pseudogene pseudogene Approved 13q31.1 13q31.1 HIG1 hypoxia inducible domain family, member 1A pseudogene 2 2011-08-10 2015-11-18 2015-11-18 100874450 ENSG00000237148 OTTHUMG00000017145 NG_032523 PGOHUM00000248648 HGNC:42642 +HGNC:42998 HIGD1AP3 HIG1 hypoxia inducible domain family member 1A pseudogene 3 pseudogene pseudogene Approved 5q35.2 05q35.2 HIG1 hypoxia inducible domain family, member 1A pseudogene 3 2011-09-16 2015-11-18 2015-11-18 100859920 ENSG00000248929 OTTHUMG00000163131 NG_031935 PGOHUM00000235839 HGNC:42998 +HGNC:43000 HIGD1AP4 HIG1 hypoxia inducible domain family member 1A pseudogene 4 pseudogene pseudogene Approved 2q36.1 02q36.1 HIG1 hypoxia inducible domain family, member 1A pseudogene 4 2011-09-16 2015-11-18 2015-11-18 100874435 ENSG00000233299 OTTHUMG00000153379 NG_032542 PGOHUM00000240538 HGNC:43000 +HGNC:42999 HIGD1AP5 HIG1 hypoxia inducible domain family member 1A pseudogene 5 pseudogene pseudogene Approved 11p15.1 11p15.1 HIG1 hypoxia inducible domain family, member 1A pseudogene 5 2011-09-16 2015-11-18 2015-11-18 100289300 ENSG00000255254 OTTHUMG00000166432 NG_031919 PGOHUM00000242605 HGNC:42999 +HGNC:43001 HIGD1AP6 HIG1 hypoxia inducible domain family member 1A pseudogene 6 pseudogene pseudogene Approved 8q21.13 08q21.13 HIG1 hypoxia inducible domain family, member 1A pseudogene 6 2011-09-16 2015-11-18 2016-10-05 100874436 ENSG00000253229 OTTHUMG00000164548 NG_032543 PGOHUM00000249717 HGNC:43001 +HGNC:43002 HIGD1AP7 HIG1 hypoxia inducible domain family member 1A pseudogene 7 pseudogene pseudogene Approved 7p14.1 07p14.1 HIG1 hypoxia inducible domain family, member 1A pseudogene 7 2011-09-16 2015-11-18 2015-11-18 100874437 NG_032544 PGOHUM00000233202 HGNC:43002 +HGNC:43003 HIGD1AP8 HIG1 hypoxia inducible domain family member 1A pseudogene 8 pseudogene pseudogene Approved 12p13.2 12p13.2 HIG1 hypoxia inducible domain family, member 1A pseudogene 8 2011-09-16 2015-11-18 2015-11-18 100874451 ENSG00000237303 OTTHUMG00000169118 NG_032545 PGOHUM00000239672 HGNC:43003 +HGNC:43004 HIGD1AP9 HIG1 hypoxia inducible domain family member 1A pseudogene 9 pseudogene pseudogene Approved 12q13.12 12q13.12 HIG1 hypoxia inducible domain family, member 1A pseudogene 9 2011-09-16 2015-11-18 2015-11-18 100874452 ENSG00000258104 OTTHUMG00000169589 NG_032901 PGOHUM00000239771 HGNC:43004 +HGNC:43005 HIGD1AP10 HIG1 hypoxia inducible domain family member 1A pseudogene 10 pseudogene pseudogene Approved 11q13.1 11q13.1 HIG1 hypoxia inducible domain family, member 1A pseudogene 10 2011-09-16 2015-11-18 2015-11-18 100287960 ENSG00000254455 OTTHUMG00000165609 NG_027526 PGOHUM00000242327 HGNC:43005 +HGNC:43006 HIGD1AP11 HIG1 hypoxia inducible domain family member 1A pseudogene 11 pseudogene pseudogene Approved 1p32.3 01p32.3 HIG1 hypoxia inducible domain family, member 1A pseudogene 11 2011-09-16 2015-11-18 2015-11-18 100874453 ENSG00000227644 OTTHUMG00000008922 NG_032547 PGOHUM00000244035 HGNC:43006 +HGNC:43007 HIGD1AP12 HIG1 hypoxia inducible domain family member 1A pseudogene 12 pseudogene pseudogene Approved 1p13.2 01p13.2 HIG1 hypoxia inducible domain family, member 1A pseudogene 12 2011-09-16 2015-11-18 2015-11-18 100130383 ENSG00000236012 OTTHUMG00000011170 NG_032000 PGOHUM00000244848 HGNC:43007 +HGNC:43008 HIGD1AP13 HIG1 hypoxia inducible domain family member 1A pseudogene 13 pseudogene pseudogene Approved 4q21.21 04q21.21 HIG1 hypoxia inducible domain family, member 1A pseudogene 13 2011-09-16 2015-11-18 2015-11-18 100874454 ENSG00000251019 OTTHUMG00000160899 NG_032548 PGOHUM00000245606 HGNC:43008 +HGNC:43009 HIGD1AP14 HIG1 hypoxia inducible domain family member 1A pseudogene 14 pseudogene pseudogene Approved 4q25 04q25 HIG1 hypoxia inducible domain family, member 1A pseudogene 14 2011-09-16 2015-11-18 2015-11-18 100874455 ENSG00000248785 OTTHUMG00000161106 NG_032549 PGOHUM00000246023 HGNC:43009 +HGNC:43010 HIGD1AP15 HIG1 hypoxia inducible domain family member 1A pseudogene 15 pseudogene pseudogene Approved 20p12.2 20p12.2 HIG1 hypoxia inducible domain family, member 1A pseudogene 15 2011-09-16 2015-11-18 2015-11-18 100289605 ENSG00000237005 OTTHUMG00000031865 NG_032775 PGOHUM00000247589 HGNC:43010 +HGNC:43011 HIGD1AP16 HIG1 hypoxia inducible domain family member 1A pseudogene 16 pseudogene pseudogene Approved 20q11.23 20q11.23 HIG1 hypoxia inducible domain family, member 1A pseudogene 16 2011-09-16 2015-11-18 2015-11-18 100874476 ENSG00000219608 OTTHUMG00000032366 NG_032550 PGOHUM00000247650 HGNC:43011 +HGNC:43012 HIGD1AP17 HIG1 hypoxia inducible domain family member 1A pseudogene 17 pseudogene pseudogene Approved 14q12 14q12 HIG1 hypoxia inducible domain family, member 1A pseudogene 17 2011-09-16 2015-11-18 2015-11-18 100874477 ENSG00000258886 OTTHUMG00000170584 NG_032551 HGNC:43012 +HGNC:43013 HIGD1AP18 HIG1 hypoxia inducible domain family member 1A pseudogene 18 pseudogene pseudogene Approved 8q21.11 08q21.11 HIG1 hypoxia inducible domain family, member 1A pseudogene 18 2011-09-16 2015-11-18 2015-11-18 100874456 ENSG00000253952 OTTHUMG00000164625 NG_032552 PGOHUM00000249395 HGNC:43013 +HGNC:24318 HIGD1B HIG1 hypoxia inducible domain family member 1B protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CLST11240|CLST11240-15" "HIG1 domain family, member 1B|HIG1 hypoxia inducible domain family, member 1B" 2005-08-31 2015-11-18 2020-03-31 51751 ENSG00000131097 OTTHUMG00000179864 uc031rau.2 AB038021 NM_016438 CCDS11488 Q9P298 12477932 MGI:1922939 RGD:1306907 HGNC:24318 "ENST00000253410.3|NM_016438.4" +HGNC:28044 HIGD1C HIG1 hypoxia inducible domain family member 1C protein-coding gene gene with protein product Approved 12q13.12 12q13.12 Gm921 "HIG1 domain family, member 1C|HIG1 hypoxia inducible domain family, member 1C" 2005-08-31 2015-11-18 2015-11-18 613227 ENSG00000214511 OTTHUMG00000169488 uc010smw.3 DQ029494 NM_001109619 CCDS44882 A8MV81 MGI:2685767 RGD:7641479 HGNC:28044 +HGNC:28311 HIGD2A HIG1 hypoxia inducible domain family member 2A protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "MGC2198|RCF1B" "HIG1 domain family, member 2A|HIG1 hypoxia inducible domain family, member 2A" Mitochondrial respiratory chain complex assembly factors 645 2005-08-31 2015-11-18 2016-06-15 192286 ENSG00000146066 OTTHUMG00000130657 uc003meg.4 BC007502 NM_138820 CCDS4401 Q9BW72 22342701 MGI:1914294 RGD:1309691 HGNC:28311 "ENST00000274787.3|NM_138820.4" +HGNC:54793 HIGD2AP1 HIGD2A pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 2020-01-08 2020-01-08 100289360 ENSG00000230047 NG_030143 +HGNC:54794 HIGD2AP2 HIGD2A pseudogene 2 pseudogene pseudogene Approved 3p21.31 03p21.31 2020-01-08 2020-02-04 112268442 ENSG00000235695 XM_047449430 +HGNC:26984 HIGD2B HIG1 hypoxia inducible domain family member 2B protein-coding gene gene with protein product Approved 15q24.1 15q24.1 HIGD2BP "HIG1 hypoxia inducible domain family, member 2B (pseudogene)|HIG1 hypoxia inducible domain family, member 2B" 2005-08-31 2009-03-18 2015-11-18 2017-11-24 123346 ENSG00000175202 OTTHUMG00000172776 uc059lck.1 BC040890 NM_001017925 CCDS86473 Q4VC39 MGI:1914294 RGD:1586494 HGNC:26984 "ENST00000311755.6|NM_001350932.3" +HGNC:26938 HIKESHI heat shock protein nuclear import factor hikeshi protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "HSPC138|HSPC179|OPI10" C11orf73 chromosome 11 open reading frame 73 2006-03-16 2016-06-07 2019-04-08 2021-05-26 51501 ENSG00000149196 OTTHUMG00000167212 uc001pbu.4 BC015991 NM_016401 CCDS8275 Q53FT3 "11042152|22541429" MGI:96738 RGD:1359455 614908 470016 HGNC:26938 "ENST00000278483.8|NM_016401.4" HGNC:26938 +HGNC:54901 HIKESHIP1 HIKESHI pseudogene 1 pseudogene pseudogene Approved Xp22.11 Xp22.11 2020-04-22 2020-04-22 100217367 ENSG00000226774 NG_009167 +HGNC:54902 HIKESHIP2 HIKESHI pseudogene 2 pseudogene pseudogene Approved 19p13.2 19p13.2 2020-04-22 2020-04-22 117751740 ENSG00000267544 NR_170259 +HGNC:54904 HIKESHIP3 HIKESHI pseudogene 3 pseudogene pseudogene Approved 8p12 08p12 2020-04-22 2020-04-22 117751737 ENSG00000271081 NG_070715 +HGNC:28859 HILPDA hypoxia inducible lipid droplet associated protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "FLJ21076|HIG-2|HIG2" hypoxia inducible gene 2 C7orf68 "chromosome 7 open reading frame 68|hypoxia inducible lipid droplet-associated" 2009-03-18 2011-11-02 2016-02-03 2021-04-26 29923 ENSG00000135245 OTTHUMG00000157712 uc003vne.5 AF144755 NM_013332 CCDS5802 Q9Y5L2 "10690527|15930302|24876382" MGI:1916823 RGD:2319900 617905 HGNC:28859 "ENST00000257696.5|NM_013332.4" +HGNC:55641 HILPDA-AS1 HILPDA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q32.1 07q32.1 Antisense RNAs 1987 2021-06-25 2021-06-25 102724660 ENSG00000240758 XR_927947 +HGNC:17850 HINFP histone H4 transcription factor protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "DKFZP434F162|HiNF-P|ZNF743" histone nuclear factor P MIZF "MBD2-interacting zinc finger 1|MBD2-interacting zinc finger" Zinc fingers C2H2-type 28 2006-02-02 2009-01-22 2009-01-22 2014-11-19 25988 ENSG00000172273 OTTHUMG00000166168 uc001pvq.4 AL080201 NM_015517 "CCDS8414|CCDS58188" Q9BQA5 11553631 MGI:2429620 RGD:1311492 607099 HGNC:17850 "ENST00000350777.7|NM_198971.3" +HGNC:4912 HINT1 histidine triad nucleotide binding protein 1 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 PKCI-1 "PRKCNH1|HINT" histidine triad nucleotide-binding protein Histidine triad superfamily 1811 1996-05-15 2002-03-08 2001-11-28 2016-10-05 3094 ENSG00000169567 OTTHUMG00000128995 uc003kve.5 BC007090 NM_005340 CCDS4147 P49773 8812426 MGI:1321133 RGD:1593411 601314 327364 HGNC:4912 "ENST00000304043.10|NM_005340.7" HGNC:4912 +HGNC:18467 HINT1P1 histidine triad nucleotide binding protein 1 pseudogene 1 pseudogene pseudogene Approved 7q34 07q34 HINTP1 2010-03-30 2010-03-30 2020-04-20 730647 ENSG00000231531 OTTHUMG00000152696 NG_009195 12119013 PGOHUM00000302460 HGNC:18467 +HGNC:38049 HINT1P2 histidine triad nucleotide binding protein 1 pseudogene 2 pseudogene pseudogene Approved 7q21.3 07q21.3 2014-10-16 2010-03-30 2014-11-19 100233146 ENSG00000271159 OTTHUMG00000184514 NG_009196 PGOHUM00000302348 HGNC:38049 +HGNC:18344 HINT2 histidine triad nucleotide binding protein 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 Histidine triad superfamily 1811 2002-03-07 2016-10-05 84681 ENSG00000137133 OTTHUMG00000019886 uc003zyh.4 AY033094 NM_032593 CCDS6594 Q9BX68 MGI:1916167 RGD:1308910 609997 HGNC:18344 "ENST00000259667.6|NM_032593.3" +HGNC:50311 HINT2P1 histidine triad nucleotide binding protein 2 pseudogene 1 pseudogene pseudogene Approved 3p26.3 03p26.3 2014-04-07 2014-04-07 101929471 ENSG00000230398 OTTHUMG00000154863 PGOHUM00000237924 HGNC:50311 +HGNC:18468 HINT3 histidine triad nucleotide binding protein 3 protein-coding gene gene with protein product Approved 6q22.32 06q22.32 "FLJ33126|HINT4" Histidine triad superfamily 1811 2002-04-10 2019-04-17 135114 ENSG00000111911 OTTHUMG00000015514 uc003qal.5 AK057688 NM_138571 CCDS5133 Q9NQE9 11805111 MGI:1914097 RGD:621603 609998 HGNC:18468 "ENST00000229633.7|NM_138571.5" +HGNC:4913 HIP1 huntingtin interacting protein 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 ILWEQ 1997-08-28 2015-09-11 3092 ENSG00000127946 OTTHUMG00000156050 uc003uds.4 AF052288 NM_005338 "CCDS59060|CCDS34669" O00291 "9140394|9147654" MGI:1099804 RGD:620305 HIP1 601767 HGNC:4913 "ENST00000336926.11|NM_005338.7" +HGNC:18415 HIP1R huntingtin interacting protein 1 related protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA0655|HIP3|HIP12|FLJ14000|ILWEQ" 2006-01-23 2016-10-05 9026 ENSG00000130787 OTTHUMG00000168765 uc001udj.2 AB013384 NM_003959 CCDS31922 O75146 16415883 MGI:1352504 RGD:621615 605613 HGNC:18415 "ENST00000253083.9|NM_003959.3" +HGNC:19006 HIPK1 homeodomain interacting protein kinase 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "KIAA0630|Myak|MGC26642|Nbak2|MGC33446|MGC33548" 2004-01-29 2020-04-20 204851 ENSG00000163349 OTTHUMG00000011983 uc001een.4 AB089957 NM_198268 "CCDS868|CCDS869|CCDS41370|CCDS867" Q86Z02 MGI:1314873 RGD:1304941 608003 objectId:2033 HGNC:19006 "ENST00000426820.7|NM_198268.3" +HGNC:50576 HIPK1-AS1 HIPK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Antisense RNAs 1987 2014-05-21 2017-08-30 101928846 ENSG00000235527 OTTHUMG00000011982 NR_110725 28839111 HIPK1-AS1 HGNC:50576 +HGNC:14402 HIPK2 homeodomain interacting protein kinase 2 protein-coding gene gene with protein product Approved 7q34 07q34 homeodomain-interacting protein kinase 2 2001-01-12 2001-11-29 2015-09-01 28996 ENSG00000064393 OTTHUMG00000157704 uc003vvf.5 AF208291 NM_022740 "CCDS75666|CCDS75667" Q9H2X6 11120354 MGI:1314872 RGD:1309349 606868 objectId:2034 HGNC:14402 "ENST00000406875.8|NM_022740.5" +HGNC:4915 HIPK3 homeodomain interacting protein kinase 3 protein-coding gene gene with protein product Approved 11p13 11p13 "PKY|DYRK6|YAK1|FIST3" homeodomain-interacting protein kinase 3 1999-05-25 2001-11-29 2015-09-11 10114 ENSG00000110422 OTTHUMG00000132269 uc001mum.3 AF004849 NM_005734 "CCDS41634|CCDS7884" Q9H422 "9373137|9748262" MGI:1314882 RGD:619884 604424 objectId:2035 HGNC:4915 "ENST00000303296.9|NM_005734.5" +HGNC:19007 HIPK4 homeodomain interacting protein kinase 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ32818 2004-01-29 2019-08-20 147746 ENSG00000160396 OTTHUMG00000182598 uc002onp.3 BC034501 NM_144685 CCDS12555 Q8NE63 MGI:2685008 RGD:1307541 611712 objectId:2036 HGNC:19007 "ENST00000291823.3|NM_144685.5" HGNC:19007 +HGNC:4916 HIRA histone cell cycle regulator protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "DGCR1|TUP1" "DiGeorge critical region gene 1|histone regulator A" TUPLE1 HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae) "WD repeat domain containing|HIRA histone chaperone complex subunits" "362|1997" 1994-04-21 2013-05-03 2020-01-09 7290 ENSG00000100084 OTTHUMG00000150134 uc002zpf.2 X75296 NM_003325 CCDS13759 P54198 "8111380|7633437|9731536" MGI:99430 RGD:1584950 600237 286557 HGNC:4916 "ENST00000263208.5|NM_003325.4" +HGNC:44916 HIRAP1 histone cell cycle regulator pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 HIR histone cell cycle regulation defective homolog A pseudogene 1 2012-12-18 2013-05-03 2016-08-15 100422545 ENSG00000271563 OTTHUMG00000184668 NG_025478 PGOHUM00000290072 HGNC:44916 +HGNC:4917 HIRIP3 HIRA interacting protein 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 HIRA-interacting protein 3 1999-09-28 2001-11-29 2016-10-05 8479 ENSG00000149929 OTTHUMG00000132118 uc002dve.4 AJ223351 NM_003609 "CCDS10664|CCDS58449" Q9BW71 9710638 MGI:2142364 RGD:1306463 603365 HGNC:4917 "ENST00000279392.8|NM_003609.5" +HGNC:49467 HISLA HIF1A stabilizing long noncoding RNA non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 HIF-1alpha-stabilizing long noncoding RNA LINC01146 long intergenic non-protein coding RNA 1146 Long non-coding RNAs with non-systematic symbols 1992 2013-12-06 2022-03-24 2022-03-24 2022-03-24 283587 ENSG00000258867 OTTHUMG00000170740 NR_046094 30936474 LINC01146 HGNC:49467 +HGNC:4920 HIVEP1 HIVEP zinc finger 1 protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "CIRIP|MBP-1|CRYBP1|PRDII-BF1|ZAS1|Schnurri-1|ZNF40A" ZNF40 "human immunodeficiency virus type I enhancer-binding protein 1|zinc finger protein 40|human immunodeficiency virus type I enhancer binding protein 1" Zinc fingers C2H2-type 28 1990-10-04 2019-07-24 2019-07-24 3096 ENSG00000095951 OTTHUMG00000014265 uc003nac.4 J05011 NM_002114 CCDS43426 P15822 "2108316|2037300|2504707" MGI:96100 RGD:727847 194540 HGNC:4920 "ENST00000379388.7|NM_002114.4" +HGNC:4921 HIVEP2 HIVEP zinc finger 2 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "MBP-2|HIV-EP2|MIBP1|ZAS2|Schnurri-2|ZNF40B" c-myc intron binding protein 1 "human immunodeficiency virus type I enhancer-binding protein 2|human immunodeficiency virus type I enhancer binding protein 2" Zinc fingers C2H2-type 28 1992-10-21 2019-07-24 2021-05-26 3097 ENSG00000010818 OTTHUMG00000015713 uc003qjd.4 M60119 NM_006734 CCDS43510 P31629 "1733857|2022670" MGI:1338076 RGD:61988 143054 470458 HGNC:4921 "ENST00000367603.8|NM_006734.4" HGNC:4921 +HGNC:55724 HIVEP2-DT HIVEP2 divergent transcript non-coding RNA RNA, long non-coding Approved 6q24.2 06q24.2 Divergent transcripts 1990 2021-07-13 2021-07-13 107986655 ENSG00000232618 XR_001744397 +HGNC:13561 HIVEP3 HIVEP zinc finger 3 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "KRC|KBP1|KBP-1|SHN3|FLJ16752|KIAA1555|ZAS3|Schnurri-3|ZNF40C" kappabinding protein-1 "human immunodeficiency virus type I enhancer-binding protein 3|human immunodeficiency virus type I enhancer binding protein 3" Zinc fingers C2H2-type 28 2000-09-25 2019-07-24 2019-07-24 59269 ENSG00000127124 OTTHUMG00000006361 uc001cgz.5 AF278765 NM_024503 "CCDS44124|CCDS463" Q5T1R4 11161801 MGI:106589 RGD:1311252 606649 HGNC:13561 "ENST00000372583.6|NM_024503.5" +HGNC:25444 HJURP Holliday junction recognition protein protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "DKFZp762E1312|URLC9|hFLEG1|FAKTS" 2007-12-06 2014-11-19 55355 ENSG00000123485 OTTHUMG00000059125 uc002vvg.5 NM_018410 "CCDS63166|CCDS63167|CCDS33406" Q8NCD3 17823411 MGI:2685821 RGD:1305846 612667 HGNC:25444 "ENST00000411486.7|NM_018410.5" +HGNC:4887 HJV hemojuvelin BMP co-receptor protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "JH|HFE2A|RGMC|hemojuvelin|haemojuvelin" repulsive guidance molecule c HFE2 hemochromatosis type 2 (juvenile) Repulsive guidance molecule family 1587 1999-05-25 2018-02-02 2018-02-02 2018-02-02 148738 ENSG00000168509 OTTHUMG00000013748 uc001eni.4 AY372521 NM_145277 "CCDS72877|CCDS72879|CCDS72878" Q6ZVN8 "10205270|14647275" MGI:1916835 RGD:1310195 608374 123414 HGNC:4887 "ENST00000336751.11|NM_213653.4" HGNC:4887 +HGNC:4922 HK1 hexokinase 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 2001-06-22 2021-05-26 3098 ENSG00000156515 OTTHUMG00000018380 uc001jpl.5 M75126 NM_000188 "CCDS7291|CCDS7289|CCDS7292" P19367 MGI:96103 RGD:2796 LRG_365|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_365.xml 142600 122420 2.7.1.1 HGNC:4922 "ENST00000359426.7|NM_000188.3" HGNC:4922 +HGNC:4923 HK2 hexokinase 2 protein-coding gene gene with protein product Approved 2p12 02p12 1993-03-11 2016-10-05 3099 ENSG00000159399 OTTHUMG00000129972 uc002snd.4 NM_000189 CCDS1956 P52789 MGI:1315197 RGD:2797 601125 2.7.1.1 HGNC:4923 "ENST00000290573.7|NM_000189.5" +HGNC:55204 HK2-DT HK2 divergent transcript non-coding RNA RNA, long non-coding Approved 2p12 02p12 Divergent transcripts 1990 2020-08-21 2020-08-21 118568819 ENSG00000272711 +HGNC:4924 HK2P1 hexokinase 2 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 HK2P hexokinase 2 pseudogene 1995-05-26 2010-03-19 2010-03-19 2017-06-16 642546 ENSG00000228612 OTTHUMG00000021906 NG_009860 "7999069|28618048" PGOHUM00000241413 HGNC:4924 +HGNC:4925 HK3 hexokinase 3 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 hexokinase 3 (white cell) 1993-03-11 2016-01-22 2016-01-22 3101 ENSG00000160883 OTTHUMG00000130855 uc003mfa.4 NM_002115 CCDS4407 P52790 8812439 MGI:2670962 RGD:2798 142570 2.7.1.1 HGNC:4925 "ENST00000292432.10|NM_002115.3" +HGNC:23302 HKDC1 hexokinase domain containing 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "FLJ37767|FLJ22761" 2004-05-27 2019-02-21 80201 ENSG00000156510 OTTHUMG00000018371 uc001jpf.4 NM_025130 CCDS7288 Q2TB90 "25648650|27459389" MGI:2384910 RGD:2321830 617221 HGNC:23302 "ENST00000354624.6|NM_025130.4" +HGNC:4931 HLA-A major histocompatibility complex, class I, A protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2021-05-26 3105 ENSG00000206503 OTTHUMG00000130501 uc021yub.2 D32129 NM_002116 CCDS34373 P04439 8838351 "MGI:95896|MGI:95904|MGI:95937|MGI:95959" RGD:2320860 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HLA-A 142800 218376 HGNC:4931 "ENST00000376809.10|NM_002116.8" +HGNC:4932 HLA-B major histocompatibility complex, class I, B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 AS ankylosing spondylitis "Histocompatibility complex|C1-set domain containing|MicroRNA protein coding host genes" "588|591|1691" 2001-06-22 2021-05-26 3106 ENSG00000234745 OTTHUMG00000031153 uc011imz.3 M15470 NM_005514 CCDS34394 P01889 3459708 "MGI:95896|MGI:95904|MGI:95928|MGI:95929|MGI:95931|MGI:95937|MGI:95959|MGI:3704134" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142830 122422 HGNC:4932 "ENST00000412585.7|NM_005514.8" +HGNC:4933 HLA-C major histocompatibility complex, class I, C protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "HLA-JY3|D6S204|PSORS1" psoriasis susceptibility 1 "Histocompatibility complex|C1-set domain containing" "588|591" 1986-01-01 2016-10-05 3107 ENSG00000204525 OTTHUMG00000031154 uc003nsy.4 M11886 NM_002117 CCDS34393 P10321 "3863816|16642438" "MGI:95896|MGI:95904|MGI:95928|MGI:95929|MGI:95931|MGI:95937|MGI:95959|MGI:3704134" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142840 413847 HGNC:4933 +HGNC:4934 HLA-DMA major histocompatibility complex, class II, DM alpha protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "D6S222E|RING6" "Histocompatibility complex|C1-set domain containing" "588|591" 1991-12-18 2016-10-05 3108 ENSG00000204257 OTTHUMG00000031173 uc003ocm.3 NM_006120 CCDS4761 P28067 1922385 MGI:95921 RGD:735053 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142855 HGNC:4934 "ENST00000374843.9|NM_006120.4" +HGNC:4935 HLA-DMB major histocompatibility complex, class II, DM beta protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "D6S221E|RING7" "Histocompatibility complex|C1-set domain containing" "588|591" 1991-12-18 2016-10-05 3109 ENSG00000242574 OTTHUMG00000031176 uc063vxr.1 NM_002118 CCDS4760 P28068 1922365 "MGI:95922|MGI:95923" RGD:735096 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142856 HGNC:4935 "ENST00000418107.3|NM_002118.5" +HGNC:4936 HLA-DOA major histocompatibility complex, class II, DO alpha protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HLA-D0-alpha "HLA-DZA|HLA-DNA" "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2001-10-05 2016-10-05 3111 ENSG00000204252 OTTHUMG00000031211 uc003ocr.4 M31525 NM_002119 CCDS4763 P06340 2370084 MGI:95924 RGD:3477 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142930 HGNC:4936 "ENST00000229829.7|NM_002119.4" +HGNC:4937 HLA-DOB major histocompatibility complex, class II, DO beta protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2016-10-05 3112 ENSG00000241106 OTTHUMG00000031213 uc011jsv.2 NM_002120 CCDS4754 P13765 MGI:95925 RGD:1595814 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 600629 HGNC:4937 "ENST00000438763.7|NM_002120.4" +HGNC:4938 HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HLA-DP1A "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2016-10-05 3113 ENSG00000231389 OTTHUMG00000031058 uc021zsx.2 X00457 NM_033554 CCDS4764 P20036 6584734 RGD:1595921 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142880 HGNC:4938 +HGNC:4939 HLA-DPA2 major histocompatibility complex, class II, DP alpha 2 (pseudogene) pseudogene pseudogene Approved 6p21.32 06p21.32 HLA-DP2A Histocompatibility complex 588 1986-01-01 2016-10-05 646702 ENSG00000231461 OTTHUMG00000031061 X01634 NG_009861 6597088 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4939 +HGNC:19393 HLA-DPA3 major histocompatibility complex, class II, DP alpha 3 (pseudogene) pseudogene pseudogene Approved 6p21.32 06p21.32 Histocompatibility complex 588 2002-10-23 2016-10-05 267013 ENSG00000237398 OTTHUMG00000031063 NG_011547 10452889 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:19393 +HGNC:4940 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HLA-DP1B "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2016-10-05 3115 ENSG00000223865 OTTHUMG00000031076 uc063zjq.1 NM_002121 CCDS4765 P04440 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142858 362495 HGNC:4940 "ENST00000418931.7|NM_002121.6" +HGNC:4941 HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) pseudogene pseudogene Approved 6p21.32 06p21.32 "DP2B|DPB2" HLA-DP2B Histocompatibility complex 588 2001-06-22 2016-10-05 3116 ENSG00000224557 OTTHUMG00000031080 M23911 NR_001435 3036829 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4941 +HGNC:4942 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 CELIAC1 HLA-DQA "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2016-10-05 3117 ENSG00000196735 OTTHUMG00000031106 uc003obr.4 NM_002122 CCDS4752 P01909 MGI:95895 RGD:1595867 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 146880 138728 HGNC:4942 "ENST00000343139.11|NM_002122.5" +HGNC:4943 HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HLA-DXA "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2016-10-05 3118 ENSG00000237541 OTTHUMG00000031108 uc011hzy.3 NM_020056 CCDS4753 P01906 MGI:95895 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 613503 HGNC:4943 "ENST00000374940.4|NM_020056.5" +HGNC:4944 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "IDDM1|CELIAC1" HLA-DQB "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2016-10-05 3119 ENSG00000179344 OTTHUMG00000031124 uc063nrh.1 NM_002123 "CCDS59006|CCDS43451" P01920 RGD:3469 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 604305 211008 HGNC:4944 +HGNC:39762 HLA-DQB1-AS1 HLA-DQB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 HLA-DQB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-21 2012-08-15 2012-10-12 106480429 ENSG00000223534 OTTHUMG00000140101 uc063nri.1 NR_133907 HLA-DQB1-AS1 HGNC:39762 +HGNC:4945 HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HLA-DXB "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2016-10-05 3120 ENSG00000232629 OTTHUMG00000031125 uc063zhn.1 M83890 NM_001198858 "CCDS56419|CCDS78128" P05538 2564844 MGI:103070 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 615161 HGNC:4945 "ENST00000437316.7|NM_001300790.2" +HGNC:4946 HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 other unknown Approved 6p21.3 06p21.3 "D6S205|D6S205E|DVB|DQB3" HLA-DVB Histocompatibility complex 588 1992-06-25 2019-06-26 3121 ENSG00000226030 OTTHUMG00000031127 M35000 "1529427|2571586" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ +HGNC:4947 HLA-DRA major histocompatibility complex, class II, DR alpha protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HLA-DRA1 "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2016-10-05 3122 ENSG00000204287 OTTHUMG00000031269 uc003obh.5 NM_019111 CCDS4750 P01903 MGI:95900 RGD:1593283 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142860 122424 HGNC:4947 "ENST00000395388.7|NM_019111.5" +HGNC:4948 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HLA-DR1B "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2016-10-05 3123 ENSG00000196126 OTTHUMG00000031196 uc003obp.5 AJ297583 NM_002124 CCDS47409 P01911 "MGI:95901|MGI:95902" RGD:1593282 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142857 122427 HGNC:4948 +HGNC:4950 HLA-DRB2 major histocompatibility complex, class II, DR beta 2 (pseudogene) pseudogene pseudogene Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus HLA-DR2B Histocompatibility complex 588 2001-06-22 2007-12-12 2015-07-31 3124 ENSG00000227442 OTTHUMG00000012608 "M86691|GL000251|GL000255" NG_002392 3032786 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ +HGNC:4951 HLA-DRB3 major histocompatibility complex, class II, DR beta 3 protein-coding gene gene with protein product Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus HLA-DR3B "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2015-07-31 3125 ENSG00000196101 OTTHUMG00000012609 uc011ixb.4 "BC008987|GL000250|GL000251|GL000255" NM_022555 P79483 MGI:95901 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 612735 +HGNC:4952 HLA-DRB4 major histocompatibility complex, class II, DR beta 4 protein-coding gene gene with protein product Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus HLA-DR4B "Histocompatibility complex|C1-set domain containing" "588|591" 2001-06-22 2015-07-31 3126 ENSG00000227357 OTTHUMG00000138996 uc011jsg.3 "GL000253|GL000254|GL000256" NM_021983 P13762 MGI:95901 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ +HGNC:4953 HLA-DRB5 major histocompatibility complex, class II, DR beta 5 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "Histocompatibility complex|C1-set domain containing" "588|591" 1990-10-16 2016-10-05 3127 ENSG00000198502 OTTHUMG00000031027 uc003obj.4 NM_002125 CCDS4751 Q30154 "MGI:95901|MGI:95902" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 604776 HGNC:4953 "ENST00000374975.4|NM_002125.4" +HGNC:4954 HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) pseudogene pseudogene Approved 6p21.32 06p21.32 Histocompatibility complex 588 1992-06-25 2016-10-05 3128 ENSG00000229391 OTTHUMG00000031028 L76566 NR_001298 "1529427|10436177" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4954 +HGNC:4955 HLA-DRB7 major histocompatibility complex, class II, DR beta 7 (pseudogene) pseudogene pseudogene Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus Histocompatibility complex 588 1992-06-25 2015-07-31 3129 ENSG00000227099 OTTHUMG00000139002 "AH001504|GL000252|GL000253|GL000256" NG_002433 "1529427|3856276" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ +HGNC:4956 HLA-DRB8 major histocompatibility complex, class II, DR beta 8 (pseudogene) pseudogene pseudogene Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus Histocompatibility complex 588 1992-06-25 2015-07-31 3130 ENSG00000233697 OTTHUMG00000138997 "M20556|GL000253|GL000256" NG_002433 1529427 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ +HGNC:4957 HLA-DRB9 major histocompatibility complex, class II, DR beta 9 (pseudogene) pseudogene pseudogene Approved 6p21.32 06p21.32 "D6S206|D6S206E" "HLA-DRB1L|HLA-DR1BL" Histocompatibility complex 588 1992-06-25 2016-10-05 3132 ENSG00000196301 OTTHUMG00000031197 S78510 NG_002432 1529427 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4957 +HGNC:4962 HLA-E major histocompatibility complex, class I, E protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "Histocompatibility complex|C1-set domain containing" "588|591" 1988-05-11 2021-05-26 3133 ENSG00000204592 OTTHUMG00000031155 uc003nqg.4 M20022 NM_005516 CCDS34379 P13747 3131426 "MGI:95896|MGI:95904|MGI:95913|MGI:95914|MGI:95915|MGI:95917|MGI:95928|MGI:95929|MGI:95931|MGI:95933|MGI:95935|MGI:95936|MGI:95937|MGI:95956|MGI:95957|MGI:95959|MGI:1276522|MGI:1276524|MGI:1276525|MGI:1276526|MGI:1276527|MGI:1276570|M" RGD:735037 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 143010 HGNC:4962 "ENST00000376630.5|NM_005516.6" +HGNC:4963 HLA-F major histocompatibility complex, class I, F protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "Histocompatibility complex|C1-set domain containing" "588|591" 1990-09-10 2016-10-05 3134 ENSG00000204642 OTTHUMG00000031156 uc011evc.3 AY253269 NM_018950 "CCDS43438|CCDS43437|CCDS43439" P30511 1688605 "MGI:95896|MGI:95904|MGI:95913|MGI:95914|MGI:95915|MGI:95917|MGI:95928|MGI:95929|MGI:95931|MGI:95933|MGI:95935|MGI:95936|MGI:95937|MGI:95956|MGI:95957|MGI:95959|MGI:1276522|MGI:1276524|MGI:1276525|MGI:1276526|MGI:1276527|MGI:1276570|M" RGD:1595868 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 143110 HGNC:4963 "ENST00000259951.12|NM_001098479.2" +HGNC:26645 HLA-F-AS1 HLA-F antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 HLA-F antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-21 2012-08-15 2020-01-10 285830 ENSG00000214922 OTTHUMG00000185970 uc003rsi.4 AK092748 NR_026972 31863778 HLA-F-AS1 HGNC:26645 +HGNC:4964 HLA-G major histocompatibility complex, class I, G protein-coding gene gene with protein product Approved 6p22.1 06p22.1 b2 microglobulin HLA-G histocompatibility antigen, class I, G "Histocompatibility complex|C1-set domain containing" "588|591" 1990-09-10 2007-12-12 2017-07-07 3135 ENSG00000204632 OTTHUMG00000031157 uc003nnw.2 NM_002127 "CCDS4668|CCDS87380" P17693 "MGI:95896|MGI:95904|MGI:95913|MGI:95914|MGI:95915|MGI:95917|MGI:95928|MGI:95929|MGI:95931|MGI:95933|MGI:95935|MGI:95936|MGI:95937|MGI:95956|MGI:95957|MGI:95959|MGI:1276522|MGI:1276524|MGI:1276525|MGI:1276526|MGI:1276527|MGI:1276570|M" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 142871 HGNC:4964 "ENST00000360323.11|NM_001384290.1" +HGNC:4965 HLA-H major histocompatibility complex, class I, H (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 Histocompatibility complex 588 1991-08-01 2016-10-05 3136 ENSG00000206341 OTTHUMG00000031160 M31944 NR_001434 P01893 "1517564|2294403" "MGI:95896|MGI:95904|MGI:95928|MGI:95929|MGI:95931|MGI:95937|MGI:95959|MGI:3704134" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4965 +HGNC:4967 HLA-J major histocompatibility complex, class I, J (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 "CDA12|HLA-59" "HLA-CDA12|D6S203" Histocompatibility complex 588 1992-06-25 2016-10-05 3137 ENSG00000204622 OTTHUMG00000031161 M80470 NR_024240 1602142 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4967 +HGNC:4969 HLA-K major histocompatibility complex, class I, K (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 HLA-70 "HLAK|HLA70" Histocompatibility complex 588 1993-11-02 2007-12-12 2015-09-21 3138 ENSG00000230795 OTTHUMG00000031162 M96335 NG_002398 1517564 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ PGOHUM00000301734 HGNC:4969 +HGNC:4970 HLA-L major histocompatibility complex, class I, L (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 HLA-92 "HLA92|HLAL" Histocompatibility complex 588 1993-11-02 2011-05-05 2016-10-05 3139 ENSG00000243753 OTTHUMG00000031164 M96338 NR_027822 1517564 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:4970 +HGNC:19406 HLA-N major histocompatibility complex, class I, N (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 HLA-30 Histocompatibility complex 588 2002-10-23 2016-10-05 267014 ENSG00000224372 OTTHUMG00000031167 M96329 NG_009940 "10452889|1517563" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:19406 +HGNC:21196 HLA-P major histocompatibility complex, class I, P (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 dJ377H14.3 "C6orf101|HLA-90" "chromosome 6 open reading frame 101|HLA-90 pseudogene" Histocompatibility complex 588 2003-11-26 2007-12-12 2007-12-12 2016-10-05 352963 ENSG00000261548 OTTHUMG00000172781 M96333 NG_002731 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:21196 +HGNC:19395 HLA-S major histocompatibility complex, class I, S (pseudogene) pseudogene pseudogene Approved 6p21.33 06p21.33 HLA-17 Histocompatibility complex 588 2002-10-23 2016-10-05 267015 ENSG00000225851 OTTHUMG00000031178 M96339 NG_009941 "10452889|1517563" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:19395 +HGNC:23478 HLA-T major histocompatibility complex, class I, T (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 HLA-16 HLA-16 pseudogene Histocompatibility complex 588 2004-01-16 2007-12-12 2007-12-12 2016-10-05 352964 ENSG00000231130 OTTHUMG00000031232 M96340 NG_002398 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:23478 +HGNC:23477 HLA-U major histocompatibility complex, class I, U (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 Em:AB023056.13 HLA-21 HLA-21 pseudogene Histocompatibility complex 588 2004-01-16 2007-12-12 2007-12-12 2016-10-05 352965 ENSG00000228078 OTTHUMG00000031245 M96330 NG_002398 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:23477 +HGNC:23482 HLA-V major histocompatibility complex, class I, V (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 dJ377H14.4 HLA-75 HLA-75 pseudogene Histocompatibility complex 588 2004-01-16 2007-12-12 2007-12-12 2017-08-02 352962 ENSG00000181126 OTTHUMG00000031277 M96332 NR_132323 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:23482 +HGNC:23425 HLA-W major histocompatibility complex, class I, W (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 HLA-80 HLA-80 pseudogene Histocompatibility complex 588 2004-01-16 2007-12-12 2007-12-12 2016-10-05 352966 ENSG00000235290 OTTHUMG00000031242 M96334 NG_015995 "10557312|1517563" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:23425 +HGNC:19385 HLA-X major histocompatibility complex, class I, X (pseudogene) pseudogene pseudogene Approved 6p21.3 06p21.3 Histocompatibility complex 588 2002-10-23 2009-12-01 267016 D88576 NG_009943 8462994 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:19385 +HGNC:33913 HLA-Y major histocompatibility complex, class I, Y (pseudogene) pseudogene pseudogene Approved 6p21.33 06p21.33 HLA-BEL/COQ/DEL Histocompatibility complex 588 2007-12-12 2011-07-08 100127173 "Y18651|AY344232|AY436316" IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ +HGNC:19394 HLA-Z major histocompatibility complex, class I, Z (pseudogene) pseudogene pseudogene Approved 6p21.32 06p21.32 HLA-Z1 Histocompatibility complex 588 2002-10-23 2016-10-05 267017 ENSG00000235301 OTTHUMG00000031189 NG_009944 8568858 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ HGNC:19394 +HGNC:4976 HLCS holocarboxylase synthetase protein-coding gene gene with protein product Approved 21q22.13 21q22.13 HCS biotin--protein ligase "holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)|holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)|holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)" 1994-12-15 2016-01-14 2022-03-30 3141 ENSG00000159267 OTTHUMG00000086636 uc002yvs.4 NM_000411 CCDS13647 P50747 7842009 MGI:894646 RGD:1565360 609018 122430 "6.3.4.9|6.3.4.10|6.3.4.11|6.3.4.15" HGNC:4976 "ENST00000674895.3|NM_001352514.2" HGNC:4976 +HGNC:55850 HLCS-AS1 HLCS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 Antisense RNAs 1987 2021-09-01 2021-09-01 122455337 ENSG00000224790 XR_007067858 +HGNC:41343 HLCS-IT1 HLCS intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 HLCS intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874294 ENSG00000237646 OTTHUMG00000086640 uc061zyy.1 HLCS-IT1 +HGNC:4977 HLF HLF transcription factor, PAR bZIP family member protein-coding gene gene with protein product Approved 17q22 17q22 MGC33822 "hepatic leukemia factor|PAR bZIP transcription factor|HLF, PAR bZIP transcription factor" PAR bZIP family 1248 1992-02-14 2019-01-25 2019-01-25 3131 ENSG00000108924 OTTHUMG00000177840 uc002iug.2 NM_002126 "CCDS82164|CCDS11585" Q16534 1386162 MGI:96108 RGD:1582828 HLF 142385 159705 HGNC:4977 "ENST00000226067.10|NM_002126.5" +HGNC:41922 HLFP1 HLF pseudogene 1 pseudogene pseudogene Approved 6q23.2 06q23.2 hepatic leukemia factor pseudogene 1 2011-05-19 2019-01-25 2019-01-25 100873813 ENSG00000218194 OTTHUMG00000015590 NG_032376 HGNC:41922 +HGNC:11099 HLTF helicase like transcription factor protein-coding gene gene with protein product Approved 3q24 03q24 "HIP116A|HLTF1|RNF80" "SNF2L3|SMARCA3" SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 Ring finger proteins 58 1994-11-08 2006-11-09 2016-06-07 2016-10-05 6596 ENSG00000071794 OTTHUMG00000159534 uc003ewr.2 L34673 NM_001318934 "CCDS82856|CCDS33875" Q14527 7558014 MGI:1196437 RGD:1309031 603257 HGNC:11099 "ENST00000310053.10|NM_003071.4" +HGNC:40554 HLTF-AS1 HLTF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q24 03q24 HLTF antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-06-25 100873945 ENSG00000239718 OTTHUMG00000159531 uc031sbw.1 NR_046648 HLTF-AS1 HGNC:40554 +HGNC:4978 HLX H2.0 like homeobox protein-coding gene gene with protein product Approved 1q41 01q41 HB24 HLX1 "H2.0 (Drosophila)-like homeo box 1|H2.0-like homeobox 1 (Drosophila)|H2.0-like homeobox 1|H2.0-like homeobox" NKL subclass homeoboxes and pseudogenes 519 1992-04-02 2007-07-26 2016-04-06 2016-04-06 3142 ENSG00000136630 OTTHUMG00000037352 uc001hmv.5 BC033808 NM_021958 CCDS1527 Q14774 "1676597|7806220" MGI:96109 RGD:1311961 142995 8532 HGNC:4978 "ENST00000366903.8|NM_021958.4" +HGNC:42509 HLX-AS1 HLX antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2011-08-03 2014-01-17 2014-01-17 2014-11-19 100873924 ENSG00000257551 OTTHUMG00000170038 DA373928 NR_046901 HLX-AS1 HGNC:42509 +HGNC:16435 HM13 histocompatibility minor 13 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "H13|dJ324O17.1|SPP|PSL3|IMP1|IMPAS|PSENL3|SPPL1" "signal peptide peptidase beta|presenilin-like protein 3|intramembrane protease|signal peptide peptidase like 1" Peptidase family A22 2099 2001-09-17 2016-06-21 2021-04-13 81502 ENSG00000101294 OTTHUMG00000032175 uc002wwc.5 AL110115 NM_178580 "CCDS13183|CCDS13182|CCDS42861" Q8TCT9 "12077416|14704149" MGI:95886 RGD:1308946 LRG_1106|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1106.xml 607106 A22.003 3.4.23.- HGNC:16435 "ENST00000398174.9|NM_178581.3" +HGNC:41940 HM13-AS1 HM13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 HM13 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100874042 ENSG00000230613 OTTHUMG00000032176 uc031rsr.1 NR_046853 HM13-AS1 HGNC:41940 +HGNC:41424 HM13-IT1 HM13 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 HM13 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 106480432 ENSG00000235313 OTTHUMG00000046194 uc061wce.1 HM13-IT1 +HGNC:26137 HMBOX1 homeobox containing 1 protein-coding gene gene with protein product Approved 8p21.1-p12 08p21.1-p12 "HNF1LA|PBHNF|FLJ21616|HOT1" homeobox telomere-binding protein 1 HNF class homeoboxes 524 2006-02-24 2018-02-13 79618 ENSG00000147421 OTTHUMG00000172138 uc003xhe.4 AY522342 NM_024567 "CCDS6071|CCDS83273|CCDS83274" Q6NT76 16825764 MGI:2445066 RGD:1306787 618610 8376 HGNC:26137 "ENST00000287701.15|NM_001135726.3" +HGNC:43632 HMBOX1-IT1 HMBOX1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 8p12 08p12 HMBOX1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-12-06 2015-02-25 2015-02-25 106481795 ENSG00000259196 OTTHUMG00000132209 uc064lqf.1 HMBOX1-IT1 +HGNC:4982 HMBS hydroxymethylbilane synthase protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "PBGD|UPS|PORC" "uroporphyrinogen I synthase|porphobilinogen deaminase|porphyria, acute; Chester type" 1986-01-01 2021-04-13 3145 ENSG00000256269 OTTHUMG00000168295 uc001puz.2 X04808 NM_000190 "CCDS58187|CCDS58186|CCDS41726|CCDS8409" P08397 "8432552|17298217" MGI:96112 RGD:2801 LRG_1076|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1076.xml 609806 122438 2.5.1.61 HGNC:4982 "ENST00000652429.1|NM_000190.4" HGNC:4982 +HGNC:24446 HMCES 5-hydroxymethylcytosine binding, ES cell specific protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "DC12|SRAPD1" "SOS response associated peptidase domain containing 1|embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein" C3orf37 "chromosome 3 open reading frame 37|5-hydroxymethylcytosine (hmC) binding, ES cell-specific" 2006-01-02 2013-08-30 2016-05-23 2017-08-02 56941 ENSG00000183624 OTTHUMG00000159452 AF201934 NM_020187 "CCDS33852|CCDS87134" Q96FZ2 "23434322|23945014" MGI:1914053 RGD:1559800 618288 HGNC:24446 "ENST00000383463.9|NM_020187.3" +HGNC:19194 HMCN1 hemicentin 1 protein-coding gene gene with protein product Approved 1q25.3-q31.1 01q25.3-q31.1 "FBLN6|FIBL6|FIBL-6" fibulin 6 ARMD1 age-related macular degeneration 1 (senile macular degeneration) "Fibulins|I-set domain containing" "556|593" 2005-06-03 2018-02-13 83872 ENSG00000143341 OTTHUMG00000059337 uc001grq.2 AF156100 NM_031935 CCDS30956 Q96RW7 11222143 MGI:2685047 RGD:1564772 608548 122442 HGNC:19194 "ENST00000271588.9|NM_031935.3" HGNC:19194 +HGNC:21293 HMCN2 hemicentin 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "DKFZp434P0216|FLJ23816" "Fibulins|I-set domain containing" "556|593" 2005-06-03 2018-11-16 256158 ENSG00000148357 OTTHUMG00000140096 uc064wnb.1 AK074396 NM_001291815 Q8NDA2 MGI:2677838 RGD:1585467 HGNC:21293 "ENST00000683500.2|NM_001291815.2" +HGNC:5001 HMG20A high mobility group 20A protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "HMGX1|FLJ10739|HMGXB1" HMG box domain containing 1 high-mobility group 20A Non-canonical high mobility group 512 1999-06-11 2011-04-05 2016-10-05 10363 ENSG00000140382 OTTHUMG00000143729 uc002bcs.4 AF146222 NM_018200 CCDS10295 Q9NP66 10773667 MGI:1914117 RGD:1564760 605534 HGNC:5001 "ENST00000336216.9|NM_001304504.2" +HGNC:5002 HMG20B high mobility group 20B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SOXL|HMGX2|BRAF35|SMARCE1r|BRAF25|HMGXB2" HMG box domain containing 2 high-mobility group 20B Non-canonical high mobility group 512 1999-06-11 2011-04-05 2014-11-19 10362 ENSG00000064961 OTTHUMG00000150437 uc002lya.4 BC003505 NM_006339 CCDS45919 Q9P0W2 10773667 MGI:1341190 RGD:1309235 605535 HGNC:5002 "ENST00000333651.11|NM_006339.3" +HGNC:5010 HMGA1 high mobility group AT-hook 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 HMGIY high-mobility group (nonhistone chromosomal) protein isoforms I and Y "Canonical high mobility group|MicroRNA protein coding host genes" "511|1691" 1993-12-15 2002-07-26 2002-07-25 2016-10-05 3159 ENSG00000137309 OTTHUMG00000014539 uc003oit.4 AF176039 NM_145899 "CCDS4789|CCDS4788" P17096 "8414980|11406267" MGI:96160 RGD:628699 HMGA1 600701 HGNC:5010 "ENST00000311487.9|NM_145899.3" HGNC:5010 +HGNC:13321 HMGA1P1 high mobility group AT-hook 1 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 HMGIYL1 HMGA1L1 high mobility group AT-hook 1-like 1 2003-11-26 2010-10-14 2010-10-14 2011-07-01 203477 ENSG00000236683 OTTHUMG00000021295 AF116914 NG_002324 "11672774|12727900" PGOHUM00000241680 HGNC:13321 +HGNC:13322 HMGA1P2 high mobility group AT-hook 1 pseudogene 2 pseudogene pseudogene Approved 4q13.3 04q13.3 HMGIYL2 HMGA1L2 high mobility group AT-hook 1-like 2 2003-11-26 2010-10-14 2010-10-14 2011-07-01 171559 ENSG00000248641 OTTHUMG00000160837 AF236857 NG_001569 "11672774|12727900" PGOHUM00000245962 HGNC:13322 +HGNC:13323 HMGA1P3 high mobility group AT-hook 1 pseudogene 3 pseudogene pseudogene Approved 12q24.11 12q24.11 HMGIYL3 HMGA1L3 high mobility group AT-hook 1-like 3 2003-11-26 2010-10-14 2010-10-14 2017-10-26 144712 ENSG00000258011 OTTHUMG00000169523 BK000551 NG_002323 "11672774|12727900" PGOHUM00000291463 HGNC:13323 +HGNC:39093 HMGA1P4 high mobility group AT-hook 1 pseudogene 4 pseudogene pseudogene Approved 9q34.11 09q34.11 2010-10-14 2012-03-12 100506080 ENSG00000234705 OTTHUMG00000020753 uc064wgd.1 NG_031851 12727900 PGOHUM00000236338 HGNC:39093 +HGNC:19120 HMGA1P5 high mobility group AT-hook 1 pseudogene 5 pseudogene pseudogene Approved 10q22.2 10q22.2 HMGA1L5 high mobility group AT-hook 1-like 5 2003-11-26 2010-10-14 2010-10-14 2011-07-01 387063 ENSG00000233313 OTTHUMG00000018521 NG_008009 12727900 PGOHUM00000238542 HGNC:19120 +HGNC:19121 HMGA1P6 high mobility group AT-hook 1 pseudogene 6 pseudogene pseudogene Approved 13q12.12 13q12.12 HMGA1L6 high mobility group AT-hook 1-like 6 2003-11-26 2010-10-14 2010-10-14 2020-04-20 100130029 ENSG00000233440 OTTHUMG00000016558 NG_027901 12727900 PGOHUM00000248528 HGNC:19121 +HGNC:19122 HMGA1P7 high mobility group AT-hook 1 pseudogene 7 pseudogene pseudogene Approved 6q23.2 06q23.2 HMGA1L7 high mobility group AT-hook 1-like 7 2003-11-26 2010-10-14 2010-10-14 2014-11-19 387065 ENSG00000216753 OTTHUMG00000015610 NR_037938 12727900 PGOHUM00000243380 HGNC:19122 +HGNC:39183 HMGA1P8 high mobility group AT-hook 1 pseudogene 8 pseudogene pseudogene Approved 2p13.1 02p13.1 HMGA1-p 2010-11-17 2016-01-29 2017-12-06 100130009 ENSG00000233155 OTTHUMG00000152827 NG_032791 "12727900|20975707" HGNC:39183 +HGNC:5009 HMGA2 high mobility group AT-hook 2 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "BABL|LIPO" HMGIC high-mobility group (nonhistone chromosomal) protein isoform I-C Canonical high mobility group 511 1998-10-23 2002-07-26 2002-07-25 2016-10-05 8091 ENSG00000149948 OTTHUMG00000168936 uc001ssx.4 U28754 NM_003483 "CCDS44936|CCDS73491|CCDS31854|CCDS81709|CCDS73492" P52926 "8824803|9003504" MGI:101761 RGD:620617 HMGA2 600698 248487 HGNC:5009 "ENST00000403681.7|NM_003483.6" HGNC:5009 +HGNC:53973 HMGA2-AS1 HMGA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q14.3 12q14.3 RP11-366L20.2 Antisense RNAs 1987 2018-10-10 2018-10-10 100129940 ENSG00000197301 OTTHUMG00000168956 NR_120478 HGNC:53973 +HGNC:4983 HMGB1 high mobility group box 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "HMG3|SBP-1|DKFZp686A04236" "Sulfoglucuronyl carbohydrate binding protein|Amphoterin|high mobility group protein 1" HMG1 "high-mobility group (nonhistone chromosomal) protein 1|high-mobility group box 1" Canonical high mobility group 511 1993-12-13 2002-08-16 2011-04-05 2021-09-17 3146 ENSG00000189403 OTTHUMG00000016670 uc058wdx.1 D63874 NM_002128 "CCDS86347|CCDS9335" P09429 "8661151|11279268" MGI:96113 RGD:2802 163905 HGNC:4983 "ENST00000341423.10|NM_002128.7" +HGNC:4993 HMGB1P1 high mobility group box 1 pseudogene 1 pseudogene pseudogene Approved 20q13.31 20q13.31 HMG1L7 "HMG1L1|HMGB1L1" "high-mobility group (nonhistone chromosomal) protein 1-like 1|high-mobility group box 1-like 1|high-mobility group box 1 pseudogene 1" 1999-06-11 2010-10-15 2011-04-05 2016-08-16 10357 ENSG00000124097 OTTHUMG00000032823 AF076674 NG_016433 B2RPK0 9925949 PGOHUM00000297026 HGNC:4993 +HGNC:4995 HMGB1P3 high mobility group box 1 pseudogene 3 pseudogene pseudogene Approved 2q37.1 02q37.1 "HMG1L3|HMGB1L3" "high-mobility group (nonhistone chromosomal) protein 1-like 3|high-mobility group box 1-like 3|high-mobility group box 1 pseudogene 3" 1999-06-11 2010-10-15 2011-04-05 2011-09-21 10356 ENSG00000250011 OTTHUMG00000153731 AF076675 NG_000883 9925949 HGNC:4995 +HGNC:4996 HMGB1P4 high mobility group box 1 pseudogene 4 pseudogene pseudogene Approved 2q31.1 02q31.1 "HMG1L4|HMG1L4P|HMGB1L4" "high-mobility group (nonhistone chromosomal) protein 1-like 4|high-mobility group (nonhistone chromosomal) protein 1-like 4 pseudogene|high-mobility group box 1-like 4|high-mobility group box 1 pseudogene 4" 1999-06-11 2010-10-15 2011-04-05 2016-08-16 10355 ENSG00000214821 OTTHUMG00000154005 AF076676 NG_004767 9925949 PGOHUM00000298223 HGNC:4996 +HGNC:4997 HMGB1P5 high mobility group box 1 pseudogene 5 pseudogene pseudogene Approved 3p24.3 03p24.3 "HMG1L5|HMGB1L15|HMGB1P2|HMGB1L5" "high-mobility group (nonhistone chromosomal) protein 1-like 5|high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene|high-mobility group box 1-like 5 pseudogene|high-mobility group box 1-like 15|high-mobility group box 1 pseudogene 2|high-mobility group box 1-like 5|high-mobility group box 1 pseudogene 5" 1999-06-11 2010-10-15 2011-04-05 2016-10-05 10354 ENSG00000132967 OTTHUMG00000155591 AF076677 NG_000897 9925949 HGNC:4997 +HGNC:4998 HMGB1P6 high mobility group box 1 pseudogene 6 pseudogene pseudogene Approved 15q23 15q23 "HMG1L6|HMGB1L6" "high-mobility group (nonhistone chromosomal) protein 1-like 6|high-mobility group (nonhistone chromosomal) protein 1-like 6 pseudogene|high-mobility group box 1-like 6|high-mobility group box 1 pseudogene 6" 1999-06-11 2010-10-15 2011-04-05 2016-08-16 645292 ENSG00000259781 OTTHUMG00000172839 AF076678 NG_006664 "9925949|12727900" PGOHUM00000293000 HGNC:4998 +HGNC:39096 HMGB1P7 high mobility group box 1 pseudogene 7 pseudogene pseudogene Approved 10p11.22 10p11.22 high-mobility group box 1 pseudogene 7 2010-10-15 2011-04-05 2016-08-16 100420044 ENSG00000231148 OTTHUMG00000017912 NG_025482 12727900 PGOHUM00000290088 HGNC:39096 +HGNC:13319 HMGB1P8 high mobility group box 1 pseudogene 8 pseudogene pseudogene Approved 15q26.1 15q26.1 "HMG1L8|HMGB1L8" "high-mobility group (nonhistone chromosomal) protein 1-like 8|high-mobility group box 1-like 8|high-mobility group box 1 pseudogene 8" 2006-01-24 2010-10-15 2011-04-05 2016-08-16 692147 ENSG00000259699 OTTHUMG00000171990 AF165167 NG_005579 12727900 PGOHUM00000293070 HGNC:13319 +HGNC:13320 HMGB1P9 high mobility group box 1 pseudogene 9 pseudogene pseudogene Approved 2q35 02q35 "HMG1L9|HMGB1L9" "high-mobility group (nonhistone chromosomal) protein 1-like 9|high-mobility group box 1-like 9|high-mobility group box 1 pseudogene 9" 2006-01-24 2010-10-15 2011-04-05 2016-08-16 654503 ENSG00000224159 OTTHUMG00000155227 AF165168 NG_005481 12727900 PGOHUM00000298878 HGNC:13320 +HGNC:4994 HMGB1P10 high mobility group box 1 pseudogene 10 pseudogene pseudogene Approved 22q12.1 22q12.1 "HMG1L10|HMGB1L10" "high-mobility group (nonhistone chromosomal) protein 1-like 10|high-mobility group box 1-like 10|high-mobility group box 1 pseudogene 10" 2000-01-12 2010-10-15 2011-04-05 2015-08-19 100130561 ENSG00000213707 OTTHUMG00000150984 NG_008794 10591208 PGOHUM00000297731 HGNC:4994 +HGNC:13316 HMGB1P11 high mobility group box 1 pseudogene 11 pseudogene pseudogene Approved 1q24.3 01q24.3 HMGB1L11 "high-mobility group box 1-like 11|high-mobility group box 1 pseudogene 11" 2009-01-06 2010-10-15 2011-04-05 2016-08-16 100419996 ENSG00000230547 OTTHUMG00000035509 NG_027013 12727900 PGOHUM00000295950 HGNC:13316 +HGNC:13317 HMGB1P12 high mobility group box 1 pseudogene 12 pseudogene pseudogene Approved Xq23 Xq23 HMGB1L12 "high-mobility group box 1-like 12|high-mobility group box 1 pseudogene 12" 2009-01-06 2010-10-15 2011-04-05 2016-08-16 100129723 ENSG00000223904 OTTHUMG00000022205 NG_022690 12727900 PGOHUM00000305253 HGNC:13317 +HGNC:13318 HMGB1P13 high mobility group box 1 pseudogene 13 pseudogene pseudogene Approved 6q23.2 06q23.2 HMGB1L13 "high-mobility group box 1-like 13|high-mobility group box 1 pseudogene 13" 2009-01-06 2010-10-15 2011-04-05 2014-11-19 100129706 ENSG00000220557 OTTHUMG00000015594 NG_022327 12727900 PGOHUM00000257146 HGNC:13318 +HGNC:20014 HMGB1P14 high mobility group box 1 pseudogene 14 pseudogene pseudogene Approved 14q23.1 14q23.1 "HMGB1P|HMGB1L14" "high-mobility group box 1 pseudogene|high-mobility group box 1-like 14|high-mobility group box 1 pseudogene 14" 2003-01-13 2010-10-15 2011-04-05 2011-09-21 319130 ENSG00000180189 OTTHUMG00000171109 NG_002508 12727900 PGOHUM00000248187 HGNC:20014 +HGNC:39097 HMGB1P15 high mobility group box 1 pseudogene 15 pseudogene pseudogene Approved Xp11.22 Xp11.22 high-mobility group box 1 pseudogene 15 2010-10-15 2011-04-05 2016-08-16 644129 ENSG00000238190 OTTHUMG00000021524 NG_030350 12727900 PGOHUM00000304615 HGNC:39097 +HGNC:39098 HMGB1P16 high mobility group box 1 pseudogene 16 pseudogene pseudogene Approved Xp21.1 Xp21.1 high-mobility group box 1 pseudogene 16 2010-10-15 2011-04-05 2016-08-16 646577 ENSG00000229384 OTTHUMG00000021352 NG_022656 12727900 PGOHUM00000305004 HGNC:39098 +HGNC:39099 HMGB1P17 high mobility group box 1 pseudogene 17 pseudogene pseudogene Approved 6q23.3 06q23.3 high-mobility group box 1 pseudogene 17 2010-10-15 2011-04-05 2016-08-16 100419974 ENSG00000217482 OTTHUMG00000015635 NG_025876 12727900 PGOHUM00000301564 HGNC:39099 +HGNC:39100 HMGB1P18 high mobility group box 1 pseudogene 18 pseudogene pseudogene Approved 1p31.1 01p31.1 high-mobility group box 1 pseudogene 18 2010-10-15 2011-04-05 2016-08-16 646526 ENSG00000236407 OTTHUMG00000010771 NG_022786 12727900 PGOHUM00000296375 HGNC:39100 +HGNC:39101 HMGB1P19 high mobility group box 1 pseudogene 19 pseudogene pseudogene Approved 8q24.13 08q24.13 high-mobility group box 1 pseudogene 19 2010-10-15 2011-04-05 2016-08-16 100419979 ENSG00000253463 OTTHUMG00000165082 NG_026129 12727900 PGOHUM00000303669 HGNC:39101 +HGNC:39103 HMGB1P20 high mobility group box 1 pseudogene 20 pseudogene pseudogene Approved 6p12.1 06p12.1 high-mobility group box 1 pseudogene 20 2010-10-15 2011-04-05 2016-08-16 100128227 ENSG00000219163 OTTHUMG00000014874 NG_028948 12727900 PGOHUM00000301386 HGNC:39103 +HGNC:39106 HMGB1P21 high mobility group box 1 pseudogene 21 pseudogene pseudogene Approved 5q14.1 05q14.1 high-mobility group box 1 pseudogene 21 2010-10-15 2011-04-05 2012-06-20 100419947 ENSG00000248909 OTTHUMG00000162478 NG_024603 12727900 PGOHUM00000260009 HGNC:39106 +HGNC:39107 HMGB1P22 high mobility group box 1 pseudogene 22 pseudogene pseudogene Approved 5q23.2 05q23.2 high-mobility group box 1 pseudogene 22 2010-10-15 2011-04-05 2016-08-16 644659 ENSG00000250721 OTTHUMG00000163013 NG_021896 12727900 PGOHUM00000301110 HGNC:39107 +HGNC:39114 HMGB1P23 high mobility group box 1 pseudogene 23 pseudogene pseudogene Approved 8p12 08p12 high-mobility group box 1 pseudogene 23 2010-10-18 2011-04-05 2016-08-16 100873891 ENSG00000253770 OTTHUMG00000164034 NG_032226 12727900 PGOHUM00000303490 HGNC:39114 +HGNC:39115 HMGB1P24 high mobility group box 1 pseudogene 24 pseudogene pseudogene Approved 17q12 17q12 high-mobility group box 1 pseudogene 24 2010-10-18 2011-04-05 2015-02-02 100420063 ENSG00000275029 OTTHUMG00000188465 NG_026178 12727900 PGOHUM00000294090 HGNC:39115 +HGNC:39116 HMGB1P25 high mobility group box 1 pseudogene 25 pseudogene pseudogene Approved 2p25.1 02p25.1 high-mobility group box 1 pseudogene 25 2010-10-18 2011-04-05 2016-08-16 644651 ENSG00000230886 OTTHUMG00000159110 NG_021494 12727900 PGOHUM00000297793 HGNC:39116 +HGNC:39117 HMGB1P26 high mobility group box 1 pseudogene 26 pseudogene pseudogene Approved 1q42.13 01q42.13 high-mobility group box 1 pseudogene 26 2010-10-18 2011-04-05 2016-08-16 645201 ENSG00000225984 OTTHUMG00000039468 NG_022758 12727900 PGOHUM00000296094 HGNC:39117 +HGNC:39118 HMGB1P27 high mobility group box 1 pseudogene 27 pseudogene pseudogene Approved 2q32.3 02q32.3 high-mobility group box 1 pseudogene 27 2010-10-18 2011-04-05 2016-08-16 100527948 ENSG00000230611 OTTHUMG00000154510 NG_027985 12727900 PGOHUM00000298816 HGNC:39118 +HGNC:39119 HMGB1P28 high mobility group box 1 pseudogene 28 pseudogene pseudogene Approved 4p13 04p13 high-mobility group box 1 pseudogene 28 2010-10-18 2011-04-05 2016-08-16 100133310 ENSG00000249745 OTTHUMG00000160533 NG_029031 12727900 PGOHUM00000299805 HGNC:39119 +HGNC:39120 HMGB1P29 high mobility group box 1 pseudogene 29 pseudogene pseudogene Approved 5q23.2 05q23.2 high-mobility group box 1 pseudogene 29 2010-10-18 2011-04-05 2013-09-24 100873892 ENSG00000250862 OTTHUMG00000162979 NG_032227 12727900 PGOHUM00000264319 HGNC:39120 +HGNC:39121 HMGB1P30 high mobility group box 1 pseudogene 30 pseudogene pseudogene Approved 3q24 03q24 high-mobility group box 1 pseudogene 30 2010-10-18 2011-04-05 2016-08-16 100873893 ENSG00000244089 OTTHUMG00000159519 NG_032228 12727900 PGOHUM00000299217 HGNC:39121 +HGNC:39122 HMGB1P31 high mobility group box 1 pseudogene 31 pseudogene pseudogene Approved 2p16.2 02p16.2 high-mobility group box 1 pseudogene 31 2010-10-18 2011-04-05 2011-09-21 100873894 ENSG00000233266 OTTHUMG00000152407 NG_032229 12727900 PGOHUM00000240645 HGNC:39122 +HGNC:39123 HMGB1P32 high mobility group box 1 pseudogene 32 pseudogene pseudogene Approved Xq21.33 Xq21.33 high-mobility group box 1 pseudogene 32 2010-10-18 2011-04-05 2016-08-16 100419995 ENSG00000226837 OTTHUMG00000021995 NG_026863 12727900 PGOHUM00000305206 HGNC:39123 +HGNC:39124 HMGB1P33 high mobility group box 1 pseudogene 33 pseudogene pseudogene Approved 15q21.3 15q21.3 high-mobility group box 1 pseudogene 33 2010-10-18 2011-04-05 2016-08-16 100873905 ENSG00000261174 OTTHUMG00000172638 NG_032230 12727900 PGOHUM00000293246 HGNC:39124 +HGNC:23342 HMGB1P34 high mobility group box 1 pseudogene 34 pseudogene pseudogene Approved 14q24.1 14q24.1 high-mobility group box 1 pseudogene 34 2010-10-18 2011-04-05 2011-09-21 100420100 NG_027382 12727900 PGOHUM00000248208 HGNC:23342 +HGNC:39175 HMGB1P35 high mobility group box 1 pseudogene 35 pseudogene pseudogene Approved 5q13.3 05q13.3 high-mobility group box 1 pseudogene 35 2010-11-02 2011-04-05 2012-03-12 100419950 ENSG00000251566 OTTHUMG00000162472 NG_024688 12727900 PGOHUM00000235663 HGNC:39175 +HGNC:39176 HMGB1P36 high mobility group box 1 pseudogene 36 pseudogene pseudogene Approved 3p13 03p13 high-mobility group box 1 pseudogene 36 2010-11-02 2011-04-05 2011-09-21 100419968 ENSG00000243873 OTTHUMG00000158798 NG_025706 12727900 PGOHUM00000238058 HGNC:39176 +HGNC:39184 HMGB1P37 high mobility group box 1 pseudogene 37 pseudogene pseudogene Approved 9q33.2 09q33.2 high-mobility group box 1 pseudogene 37 2010-11-17 2011-04-05 2011-09-21 100132863 ENSG00000213467 OTTHUMG00000020593 NG_021636 12727900 PGOHUM00000236327 HGNC:39184 +HGNC:39185 HMGB1P38 high mobility group box 1 pseudogene 38 pseudogene pseudogene Approved 3p12.2 03p12.2 high-mobility group box 1 pseudogene 38 2010-11-17 2011-04-05 2011-09-21 100873895 ENSG00000243877 OTTHUMG00000158930 NG_032232 12727900 PGOHUM00000250248 HGNC:39185 +HGNC:39186 HMGB1P39 high mobility group box 1 pseudogene 39 pseudogene pseudogene Approved 6q14.1 06q14.1 high-mobility group box 1 pseudogene 39 2010-11-17 2011-04-05 2011-09-21 100419972 ENSG00000203489 OTTHUMG00000015052 NG_025834 12727900 PGOHUM00000243253 HGNC:39186 +HGNC:39187 HMGB1P40 high mobility group box 1 pseudogene 40 pseudogene pseudogene Approved 11p15.1 11p15.1 high-mobility group box 1 pseudogene 40 2010-11-17 2011-04-05 2016-08-16 100506595 ENSG00000255291 OTTHUMG00000166023 NG_027946 12727900 PGOHUM00000290841 HGNC:39187 +HGNC:39188 HMGB1P41 high mobility group box 1 pseudogene 41 pseudogene pseudogene Approved 8q21.13 08q21.13 high-mobility group box 1 pseudogene 41 2010-11-17 2011-04-05 2011-09-21 100873896 ENSG00000253516 OTTHUMG00000164591 NG_032233 12727900 PGOHUM00000249404 HGNC:39188 +HGNC:39189 HMGB1P42 high mobility group box 1 pseudogene 42 pseudogene pseudogene Approved 11q23.3 11q23.3 high-mobility group box 1 pseudogene 42 2010-11-17 2011-04-05 2015-08-25 100873906 ENSG00000254735 OTTHUMG00000166093 NG_032234 12727900 PGOHUM00000290728 HGNC:39189 +HGNC:39191 HMGB1P43 high mobility group box 1 pseudogene 43 pseudogene pseudogene Approved 15q25.3 15q25.3 high-mobility group box 1 pseudogene 43 2010-11-17 2011-04-05 2011-09-21 100420041 NG_025349 12727900 PGOHUM00000246908 HGNC:39191 +HGNC:39275 HMGB1P44 high mobility group box 1 pseudogene 44 pseudogene pseudogene Approved 4q21.1 04q21.1 high-mobility group box 1 pseudogene 44 2010-11-25 2011-04-05 2011-09-21 100130279 ENSG00000248956 OTTHUMG00000160848 NG_022063 12727900 PGOHUM00000245972 HGNC:39275 +HGNC:39277 HMGB1P45 high mobility group box 1 pseudogene 45 pseudogene pseudogene Approved 1p32.3 01p32.3 high-mobility group box 1 pseudogene 45 2010-11-25 2011-04-05 2011-09-21 100129919 ENSG00000229316 OTTHUMG00000007881 NG_022721 12727900 PGOHUM00000244020 HGNC:39277 +HGNC:39279 HMGB1P46 high mobility group box 1 pseudogene 46 pseudogene pseudogene Approved 8q23.1 08q23.1 high-mobility group box 1 pseudogene 46 2010-11-25 2011-04-05 2011-09-21 100419978 ENSG00000254146 OTTHUMG00000164810 NG_026068 12727900 PGOHUM00000249477 HGNC:39279 +HGNC:39280 HMGB1P47 high mobility group box 1 pseudogene 47 pseudogene pseudogene Approved 5q11.2 05q11.2 high-mobility group box 1 pseudogene 47 2010-11-25 2011-04-05 2016-08-16 100873897 ENSG00000249338 OTTHUMG00000162403 NG_032241 12727900 PGOHUM00000300580 HGNC:39280 +HGNC:39281 HMGB1P48 high mobility group box 1 pseudogene 48 pseudogene pseudogene Approved 1p34.1 01p34.1 high-mobility group box 1 pseudogene 48 2010-11-26 2011-04-05 2011-09-21 100128639 ENSG00000234379 OTTHUMG00000007743 NG_028928 12727900 PGOHUM00000251113 HGNC:39281 +HGNC:39282 HMGB1P49 high mobility group box 1 pseudogene 49 pseudogene pseudogene Approved 12p11.22 12p11.22 high-mobility group box 1 pseudogene 49 2010-11-26 2011-04-05 2017-03-28 100420013 ENSG00000230519 OTTHUMG00000169213 NG_024073 12727900 PGOHUM00000291595 HGNC:39282 +HGNC:52368 HMGB1P50 high mobility group box 1 pseudogene 50 pseudogene pseudogene Approved 10q11.23 10q11.23 2016-08-16 2020-04-06 109729125 ENSG00000271237 OTTHUMG00000184651 NG_052920 PGOHUM00000290153 HGNC:52368 +HGNC:52369 HMGB1P51 high mobility group box 1 pseudogene 51 pseudogene pseudogene Approved 15q21.3 15q21.3 2016-08-16 2020-04-06 109729159 ENSG00000270986 OTTHUMG00000184879 NG_052921 PGOHUM00000293256 HGNC:52369 +HGNC:5000 HMGB2 high mobility group box 2 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 HMG2 "high-mobility group (nonhistone chromosomal) protein 2|high-mobility group box 2" "Canonical high mobility group|SET complex" "511|1659" 1993-12-13 2002-08-16 2011-04-05 2016-10-05 3148 ENSG00000164104 OTTHUMG00000160799 uc003itb.3 NM_001130688 CCDS3816 P26583 1754403 MGI:96157 RGD:69291 163906 HGNC:5000 "ENST00000296503.10|NM_002129.4" +HGNC:39174 HMGB2P1 high mobility group box 2 pseudogene 1 pseudogene pseudogene Approved 19p13.3 19p13.3 high-mobility group box 2 pseudogene 1 2010-11-02 2011-04-05 2016-11-09 729119 ENSG00000267736 OTTHUMG00000180117 NG_021754 PGOHUM00000295163 HGNC:39174 +HGNC:5004 HMGB3 high mobility group box 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "HMG2A|MGC90319" non-histone chromosomal protein HMG4 "high-mobility group (nonhistone chromosomal) protein 4|high-mobility group box 3" Canonical high mobility group 511 1997-12-12 2002-08-16 2011-04-05 2015-09-11 3149 ENSG00000029993 OTTHUMG00000024162 uc004fep.4 AF274572 NM_005342 CCDS35428 O15347 9598312 MGI:1098219 RGD:1564407 300193 HGNC:5004 "ENST00000325307.12|NM_005342.4" +HGNC:16240 HMGB3P1 high mobility group box 3 pseudogene 1 pseudogene pseudogene Approved 20q11.22 20q11.22 dJ18C9.3 "HMG4L|HMGB3L1" "high-mobility group (nonhistone chromosomal) protein 4-like|high-mobility group box 3-like 1|high-mobility group box 3 pseudogene 1" 2001-07-17 2010-11-02 2011-04-05 2013-10-11 128872 ENSG00000225336 OTTHUMG00000032313 AL049709 NR_002165 12727900 PGOHUM00000250542 HGNC:16240 +HGNC:16574 HMGB3P2 high mobility group box 3 pseudogene 2 pseudogene pseudogene Approved 20q11.23 20q11.23 dJ550H1.1 "HMG4L2|HMGB3L2" "high-mobility group (nonhistone chromosomal) protein 4-like 2|high-mobility group box 3-like 2|high-mobility group box 3 pseudogene 2" 2001-09-17 2010-11-02 2011-04-05 2011-09-21 128879 ENSG00000231470 OTTHUMG00000032373 AL035420 NG_000979 12727900 PGOHUM00000247525 HGNC:16574 +HGNC:39102 HMGB3P3 high mobility group box 3 pseudogene 3 pseudogene pseudogene Approved 5p15.32 05p15.32 high-mobility group box 3 pseudogene 3 2010-11-02 2011-04-05 2012-03-12 100419949 ENSG00000250730 OTTHUMG00000161681 NG_024651 12727900 PGOHUM00000257121 HGNC:39102 +HGNC:39104 HMGB3P4 high mobility group box 3 pseudogene 4 pseudogene pseudogene Approved 13q32.3 13q32.3 high-mobility group box 3 pseudogene 4 2010-11-02 2011-04-05 2016-08-16 100873890 ENSG00000228808 OTTHUMG00000017268 NG_032225 12727900 PGOHUM00000292232 HGNC:39104 +HGNC:39105 HMGB3P5 high mobility group box 3 pseudogene 5 pseudogene pseudogene Approved 10q25.2 10q25.2 high-mobility group box 3 pseudogene 5 2010-11-02 2011-04-05 2016-08-16 645360 ENSG00000237642 OTTHUMG00000019038 NG_022191 12727900 PGOHUM00000290282 HGNC:39105 +HGNC:39283 HMGB3P6 high mobility group box 3 pseudogene 6 pseudogene pseudogene Approved 1q23.3 01q23.3 high-mobility group box 3 pseudogene 6 2010-11-26 2011-04-05 2011-09-21 729952 ENSG00000213070 OTTHUMG00000034279 NG_022815 12727900 PGOHUM00000245054 HGNC:39283 +HGNC:39299 HMGB3P7 high mobility group box 3 pseudogene 7 pseudogene pseudogene Approved 13q33.1 13q33.1 high-mobility group box 3 pseudogene 7 2010-11-26 2011-04-05 2011-09-21 100420033 ENSG00000215399 OTTHUMG00000017297 NG_024948 12727900 PGOHUM00000256736 HGNC:39299 +HGNC:39300 HMGB3P8 high mobility group box 3 pseudogene 8 pseudogene pseudogene Approved 10q25.3 10q25.3 high-mobility group box 3 pseudogene 8 2010-11-26 2011-04-05 2011-09-21 100506039 ENSG00000227096 OTTHUMG00000019101 NG_028968 12727900 PGOHUM00000251257 HGNC:39300 +HGNC:39301 HMGB3P9 high mobility group box 3 pseudogene 9 pseudogene pseudogene Approved 1p22.1 01p22.1 high-mobility group box 3 pseudogene 9 2010-11-26 2011-04-05 2011-09-21 100873879 ENSG00000229992 OTTHUMG00000010900 NG_032244 12727900 PGOHUM00000244102 HGNC:39301 +HGNC:39302 HMGB3P10 high mobility group box 3 pseudogene 10 pseudogene pseudogene Approved 1p21.2 01p21.2 high-mobility group box 3 pseudogene 10 2010-11-26 2011-04-05 2011-09-21 100129320 ENSG00000223656 OTTHUMG00000010767 NG_028926 12727900 PGOHUM00000251118 HGNC:39302 +HGNC:39303 HMGB3P11 high mobility group box 3 pseudogene 11 pseudogene pseudogene Approved 2q12.1 02q12.1 high-mobility group box 3 pseudogene 11 2010-11-26 2011-04-05 2011-09-21 644442 ENSG00000213301 OTTHUMG00000153069 NG_021574 12727900 PGOHUM00000240825 HGNC:39303 +HGNC:39304 HMGB3P12 high mobility group box 3 pseudogene 12 pseudogene pseudogene Approved 3p24.2 03p24.2 high-mobility group box 3 pseudogene 12 2010-11-26 2011-04-05 2011-09-21 100873898 ENSG00000237603 OTTHUMG00000155598 NG_032245 12727900 PGOHUM00000250280 HGNC:39304 +HGNC:39305 HMGB3P13 high mobility group box 3 pseudogene 13 pseudogene pseudogene Approved 3q22.2 03q22.2 high-mobility group box 3 pseudogene 13 2010-11-26 2011-04-05 2011-09-21 100289158 ENSG00000214288 OTTHUMG00000159770 NG_022274 12727900 PGOHUM00000238203 HGNC:39305 +HGNC:39306 HMGB3P14 high mobility group box 3 pseudogene 14 pseudogene pseudogene Approved 3q22.2 03q22.2 high-mobility group box 3 pseudogene 14 2010-11-26 2011-04-05 2011-09-21 100873899 ENSG00000231845 OTTHUMG00000159747 NG_032246 12727900 PGOHUM00000250307 HGNC:39306 +HGNC:39307 HMGB3P15 high mobility group box 3 pseudogene 15 pseudogene pseudogene Approved 4q22.2 04q22.2 high-mobility group box 3 pseudogene 15 2010-11-26 2011-04-05 2016-10-05 644429 ENSG00000250897 OTTHUMG00000160930 NG_022021 12727900 PGOHUM00000245625 HGNC:39307 +HGNC:39308 HMGB3P16 high mobility group box 3 pseudogene 16 pseudogene pseudogene Approved 5q22.2 05q22.2 high-mobility group box 3 pseudogene 16 2010-11-26 2011-04-05 2011-09-21 100873900 ENSG00000248430 OTTHUMG00000162897 NG_032247 12727900 PGOHUM00000257110 HGNC:39308 +HGNC:39309 HMGB3P17 high mobility group box 3 pseudogene 17 pseudogene pseudogene Approved 5q23.2 05q23.2 high-mobility group box 3 pseudogene 17 2010-11-26 2011-04-05 2011-09-21 100419948 ENSG00000249400 OTTHUMG00000162975 NG_024626 12727900 PGOHUM00000257112 HGNC:39309 +HGNC:39310 HMGB3P18 high mobility group box 3 pseudogene 18 pseudogene pseudogene Approved 6q22.31 06q22.31 high-mobility group box 3 pseudogene 18 2010-11-26 2011-04-05 2011-09-21 644502 ENSG00000220184 OTTHUMG00000015485 NG_022325 12727900 PGOHUM00000243348 HGNC:39310 +HGNC:39311 HMGB3P19 high mobility group box 3 pseudogene 19 pseudogene pseudogene Approved 6q25.2 06q25.2 high-mobility group box 3 pseudogene 19 2010-11-26 2011-04-05 2011-09-21 729635 ENSG00000217085 OTTHUMG00000015868 NG_022333 12727900 PGOHUM00000250189 HGNC:39311 +HGNC:39312 HMGB3P20 high mobility group box 3 pseudogene 20 pseudogene pseudogene Approved 7p15.2 07p15.2 high-mobility group box 3 pseudogene 20 2010-11-26 2011-04-05 2011-09-21 442661 ENSG00000226059 OTTHUMG00000033539 NG_022531 12727900 PGOHUM00000250856 HGNC:39312 +HGNC:39313 HMGB3P21 high mobility group box 3 pseudogene 21 pseudogene pseudogene Approved 7q21.3 07q21.3 high-mobility group box 3 pseudogene 21 2010-11-26 2011-04-05 2011-09-21 100873901 ENSG00000224551 OTTHUMG00000154299 NG_032248 12727900 HGNC:39313 +HGNC:39314 HMGB3P22 high mobility group box 3 pseudogene 22 pseudogene pseudogene Approved 5q35.3 05q35.3 high-mobility group box 3 pseudogene 22 2010-11-26 2011-04-05 2011-09-21 729595 ENSG00000225051 OTTHUMG00000163166 NG_028953 12727900 PGOHUM00000251403 HGNC:39314 +HGNC:39315 HMGB3P23 high mobility group box 3 pseudogene 23 pseudogene pseudogene Approved 9p21.1 09p21.1 high-mobility group box 3 pseudogene 23 2010-11-26 2011-04-05 2011-09-21 100288563 ENSG00000235148 OTTHUMG00000019738 NG_028956 12727900 PGOHUM00000250489 HGNC:39315 +HGNC:39316 HMGB3P24 high mobility group box 3 pseudogene 24 pseudogene pseudogene Approved 9p13.2 09p13.2 high-mobility group box 3 pseudogene 24 2010-11-26 2011-04-05 2010-11-26 646993 ENSG00000215283 OTTHUMG00000019902 NG_029027 12727900 PGOHUM00000250495 HGNC:39316 +HGNC:39317 HMGB3P25 high mobility group box 3 pseudogene 25 pseudogene pseudogene Approved 11q14.2 11q14.2 high-mobility group box 3 pseudogene 25 2010-11-26 2011-04-05 2010-11-29 100873908 NG_032249 12727900 PGOHUM00000242401 HGNC:39317 +HGNC:39318 HMGB3P26 high mobility group box 3 pseudogene 26 pseudogene pseudogene Approved 14q32.32 14q32.32 high-mobility group box 3 pseudogene 26 2010-11-26 2011-04-05 2012-10-03 100130405 ENSG00000259428 OTTHUMG00000171840 NG_022849 12727900 PGOHUM00000247898 HGNC:39318 +HGNC:39319 HMGB3P27 high mobility group box 3 pseudogene 27 pseudogene pseudogene Approved 17q21.2 17q21.2 high-mobility group box 3 pseudogene 27 2010-11-26 2011-04-05 2017-10-26 441795 ENSG00000267132 OTTHUMG00000180639 NG_028178 12727900 PGOHUM00000294442 HGNC:39319 +HGNC:39320 HMGB3P28 high mobility group box 3 pseudogene 28 pseudogene pseudogene Approved 18p11.21 18p11.21 high-mobility group box 3 pseudogene 28 2010-11-26 2011-04-05 2011-09-21 100131036 NG_022487 12727900 PGOHUM00000256833 HGNC:39320 +HGNC:39321 HMGB3P29 high mobility group box 3 pseudogene 29 pseudogene pseudogene Approved 19p13.11 19p13.11 high-mobility group box 3 pseudogene 29 2010-11-29 2011-04-05 2011-09-21 100420015 NG_024158 12727900 PGOHUM00000234192 HGNC:39321 +HGNC:39333 HMGB3P30 high mobility group box 3 pseudogene 30 pseudogene pseudogene Approved Xq23 Xq23 high-mobility group box 3 pseudogene 30 2010-11-29 2011-04-05 2010-11-29 203510 ENSG00000213652 OTTHUMG00000022215 NG_022892 12727900 PGOHUM00000250085 HGNC:39333 +HGNC:39334 HMGB3P31 high mobility group box 3 pseudogene 31 pseudogene pseudogene Approved Xq26.3 Xq26.3 high-mobility group box 3 pseudogene 31 2010-11-29 2011-04-05 2011-09-21 392545 ENSG00000231929 OTTHUMG00000022463 NG_022638 12727900 PGOHUM00000250060 HGNC:39334 +HGNC:39335 HMGB3P32 high mobility group box 3 pseudogene 32 pseudogene pseudogene Approved 16q21 16q21 high-mobility group box 3 pseudogene 32 2010-11-29 2011-04-05 2017-10-26 100507549 ENSG00000260828 OTTHUMG00000176434 NG_028971 12727900 PGOHUM00000293879 HGNC:39335 +HGNC:24954 HMGB4 high mobility group box 4 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 FLJ40388 high-mobility group box 4 Canonical high mobility group 511 2005-09-30 2011-04-05 2014-11-19 127540 ENSG00000176256 OTTHUMG00000013143 uc001bxp.3 NM_145205 CCDS30668 Q8WW32 MGI:1916567 RGD:1596426 617285 HGNC:24954 "ENST00000681531.1|NM_001379301.1" +HGNC:5005 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase protein-coding gene gene with protein product Approved 1p36.11 01p36.11 HL "hydroxymethylglutaricaciduria|hydroxymethylglutaryl-CoA lyase" "3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase|3-hydroxymethyl-3-methylglutaryl-CoA lyase" 1993-12-13 2018-05-29 2018-05-29 3155 ENSG00000117305 OTTHUMG00000002963 uc001bib.4 BC010570 NM_000191 "CCDS53279|CCDS243" P35914 "8102917|8978493" MGI:96158 RGD:620554 613898 122447 4.1.3.4 HGNC:5005 "ENST00000374490.8|NM_000191.3" HGNC:5005 +HGNC:21359 HMGCLL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "DKFZP434G1411|bA418P12.1" 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1 2003-06-20 2016-06-10 2018-11-16 54511 ENSG00000146151 OTTHUMG00000014902 uc003pco.4 AK055075 NM_019036 "CCDS43474|CCDS75473|CCDS43475|CCDS75472" Q8TB92 "8619474|9110174" MGI:2446108 RGD:1565090 619050 HGNC:21359 "ENST00000274901.9|NM_001042406.2" +HGNC:5006 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "hydroxymethylglutaryl-CoA reductase|3-hydroxy-3-methylglutaryl CoA reductase (NADPH)" 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 2001-06-22 2010-04-30 2016-10-05 3156 ENSG00000113161 OTTHUMG00000102069 uc003kdp.4 NM_000859 "CCDS4027|CCDS47234" P04035 MGI:96159 RGD:2803 142910 objectId:639 "1.1.1.88|1.1.1.34" HGNC:5006 "ENST00000287936.9|NM_000859.3" +HGNC:5007 HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 protein-coding gene gene with protein product Approved 5p12 05p12 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase HMGCS "3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)|3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)" 2001-06-22 2015-11-26 2016-01-15 3157 ENSG00000112972 OTTHUMG00000162231 uc003jnq.6 NM_001098272 CCDS34154 Q01581 MGI:107592 RGD:70970 142940 objectId:638 2.3.3.10 HGNC:5007 "ENST00000325110.11|NM_001098272.3" +HGNC:5008 HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 protein-coding gene gene with protein product Approved 1p12 01p12 "3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)|3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)" 1994-05-17 2016-01-21 2021-05-26 3158 ENSG00000134240 OTTHUMG00000012101 uc001eid.4 BC044217 NM_005518 "CCDS53353|CCDS905" P54868 "7851882|7893153" MGI:101939 RGD:2804 LRG_447|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_447.xml 600234 122453 objectId:2432 2.3.3.10 HGNC:5008 "ENST00000369406.8|NM_005518.4" HGNC:5008 +HGNC:4984 HMGN1 high mobility group nucleosome binding domain 1 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "FLJ27265|FLJ31471|MGC104230|MGC117425" "high-mobility group nucleosome binding 1|nonhistone chromosomal protein HMG-14" HMG14 "high-mobility group (nonhistone chromosomal) protein 14|high-mobility group nucleosome binding domain 1" Canonical high mobility group 511 1988-07-19 2002-08-16 2011-04-05 2016-10-05 3150 ENSG00000205581 OTTHUMG00000066178 uc002yxo.4 NM_004965 CCDS33559 P05114 "3782107|2563381" MGI:96120 RGD:1307761 163920 HGNC:4984 "ENST00000380749.10|NM_004965.7" +HGNC:20015 HMGN1P1 high mobility group nucleosome binding domain 1 pseudogene 1 pseudogene pseudogene Approved 14q22.3 14q22.3 HMGN1L1 "high-mobility group nucleosome binding domain 1-like 1|high-mobility group nucleosome binding domain 1 pseudogene 1" 2003-01-13 2010-11-23 2011-04-05 2020-04-07 319131 ENSG00000259318 OTTHUMG00000172130 NG_002509 12727900 PGOHUM00000247808 HGNC:20015 +HGNC:4985 HMGN1P2 high mobility group nucleosome binding domain 1 pseudogene 2 pseudogene pseudogene Approved 21q22.11 21q22.11 "HMG14P|HMGN1L2" "high-mobility group (nonhistone chromosomal) protein 14 pseudogene|high-mobility group nucleosome binding domain 1-like 2|high-mobility group nucleosome binding domain 1 pseudogene 2" 2000-05-23 2010-11-23 2011-04-05 2011-09-21 54048 ENSG00000229046 OTTHUMG00000084901 NG_000921 12727900 PGOHUM00000239162 HGNC:4985 +HGNC:23343 HMGN1P3 high mobility group nucleosome binding domain 1 pseudogene 3 pseudogene pseudogene Approved 14q24.1 14q24.1 high-mobility group nucleosome binding domain 1 pseudogene 3 2010-11-23 2011-04-05 2017-10-26 100036574 ENSG00000258967 OTTHUMG00000171667 NG_005988 12727900 PGOHUM00000292392 HGNC:23343 +HGNC:39336 HMGN1P4 high mobility group nucleosome binding domain 1 pseudogene 4 pseudogene pseudogene Approved 1q25.3 01q25.3 high-mobility group nucleosome binding domain 1 pseudogene 4 2010-11-29 2011-04-05 2011-09-21 100036575 ENSG00000224040 OTTHUMG00000041119 NG_005989 12727900 PGOHUM00000244362 HGNC:39336 +HGNC:39348 HMGN1P5 high mobility group nucleosome binding domain 1 pseudogene 5 pseudogene pseudogene Approved 1q23.1 01q23.1 high-mobility group nucleosome binding domain 1 pseudogene 5 2010-11-29 2011-04-05 2011-09-21 100874429 ENSG00000230942 OTTHUMG00000017511 NG_032257 12727900 PGOHUM00000244295 HGNC:39348 +HGNC:39349 HMGN1P6 high mobility group nucleosome binding domain 1 pseudogene 6 pseudogene pseudogene Approved 2q33.3 02q33.3 high-mobility group nucleosome binding domain 1 pseudogene 6 2010-11-29 2011-04-05 2011-09-21 100874430 ENSG00000224070 OTTHUMG00000154645 NG_032258 12727900 PGOHUM00000240500 HGNC:39349 +HGNC:39350 HMGN1P7 high mobility group nucleosome binding domain 1 pseudogene 7 pseudogene pseudogene Approved 3q11.1 03q11.1 high-mobility group nucleosome binding domain 1 pseudogene 7 2010-11-29 2011-04-05 2011-09-21 100129555 ENSG00000239614 OTTHUMG00000159010 NG_017076 12727900 PGOHUM00000237684 HGNC:39350 +HGNC:39351 HMGN1P8 high mobility group nucleosome binding domain 1 pseudogene 8 pseudogene pseudogene Approved 3q26.1 03q26.1 high-mobility group nucleosome binding domain 1 pseudogene 8 2010-11-29 2011-04-05 2011-09-21 100874431 ENSG00000241120 OTTHUMG00000158449 NG_008158 12727900 PGOHUM00000237853 HGNC:39351 +HGNC:39352 HMGN1P9 high mobility group nucleosome binding domain 1 pseudogene pseudogene pseudogene Approved 3q22.2 03q22.2 high-mobility group nucleosome binding domain 1 pseudogene 2010-11-29 2011-04-05 2011-09-21 100874410 ENSG00000248377 OTTHUMG00000159772 NG_032260 PGOHUM00000238202 HGNC:39352 +HGNC:39353 HMGN1P10 high mobility group nucleosome binding domain 1 pseudogene 10 pseudogene pseudogene Approved 3q22.3 03q22.3 high-mobility group nucleosome binding domain 1 pseudogene 10 2010-11-29 2011-04-05 2011-09-21 100874438 ENSG00000244101 OTTHUMG00000159802 NG_032261 PGOHUM00000238207 HGNC:39353 +HGNC:39355 HMGN1P11 high mobility group nucleosome binding domain 1 pseudogene 11 pseudogene pseudogene Approved 4q13.1 04q13.1 high-mobility group nucleosome binding domain 1 pseudogene 11 2010-11-30 2011-04-05 2011-09-21 644534 ENSG00000248336 OTTHUMG00000162341 NG_028944 12727900 PGOHUM00000245928 HGNC:39355 +HGNC:39356 HMGN1P12 high mobility group nucleosome binding domain 1 pseudogene 12 pseudogene pseudogene Approved 5q13.2 05q13.2 high-mobility group nucleosome binding domain 1 pseudogene 12 2010-11-30 2011-04-05 2011-09-21 106480725 ENSG00000247911 OTTHUMG00000163799 NG_047017 12727900 PGOHUM00000235269 HGNC:39356 +HGNC:39357 HMGN1P13 high mobility group nucleosome binding domain 1 pseudogene 13 pseudogene pseudogene Approved 5q22.1 05q22.1 high-mobility group nucleosome binding domain 1 pseudogene 13 2010-11-30 2011-04-05 2011-09-21 100874439 ENSG00000249619 OTTHUMG00000162843 NG_032262 12727900 PGOHUM00000235355 HGNC:39357 +HGNC:39358 HMGN1P14 high mobility group nucleosome binding domain 1 pseudogene 14 pseudogene pseudogene Approved 5q22.1 05q22.1 high-mobility group nucleosome binding domain 1 pseudogene 14 2010-11-30 2011-04-05 2011-09-21 100874440 ENSG00000249439 OTTHUMG00000162859 NG_032263 PGOHUM00000235356 HGNC:39358 +HGNC:39359 HMGN1P15 high mobility group nucleosome binding domain 1 pseudogene 15 pseudogene pseudogene Approved 5q22.3 05q22.3 high-mobility group nucleosome binding domain 1 pseudogene 15 2010-11-30 2011-04-05 2011-09-21 100874441 ENSG00000250197 OTTHUMG00000162909 NG_032264 12727900 PGOHUM00000235361 HGNC:39359 +HGNC:39360 HMGN1P16 high mobility group nucleosome binding domain 1 pseudogene 16 pseudogene pseudogene Approved 5q32 05q32 high-mobility group nucleosome binding domain 1 pseudogene 16 2010-11-30 2011-04-05 2011-09-21 100874442 ENSG00000249503 OTTHUMG00000163428 NG_032265 12727900 PGOHUM00000235419 HGNC:39360 +HGNC:39361 HMGN1P17 high mobility group nucleosome binding domain 1 pseudogene 17 pseudogene pseudogene Approved 5q11.2 05q11.2 high-mobility group nucleosome binding domain 1 pseudogene 17 2010-11-30 2011-04-05 2011-09-21 100874443 ENSG00000250787 OTTHUMG00000162299 NG_032266 12727900 PGOHUM00000235595 HGNC:39361 +HGNC:39362 HMGN1P18 high mobility group nucleosome binding domain 1 pseudogene 18 pseudogene pseudogene Approved 7q31.31 07q31.31 high-mobility group nucleosome binding domain 1 pseudogene 18 2010-11-30 2011-04-05 2011-09-21 100874444 ENSG00000234927 OTTHUMG00000156981 NG_032267 12727900 PGOHUM00000250963 HGNC:39362 +HGNC:39363 HMGN1P19 high mobility group nucleosome binding domain 1 pseudogene 19 pseudogene pseudogene Approved 7p12.3 07p12.3 high-mobility group nucleosome binding domain 1 pseudogene 19 2010-11-30 2011-04-05 2011-09-21 100874445 ENSG00000224519 OTTHUMG00000155468 NG_032268 12727900 PGOHUM00000233224 HGNC:39363 +HGNC:39364 HMGN1P20 high mobility group nucleosome binding domain 1 pseudogene 20 pseudogene pseudogene Approved 10p12.31 10p12.31 high-mobility group nucleosome binding domain 1 pseudogene 20 2010-11-30 2011-04-05 2011-09-21 100874459 ENSG00000239539 OTTHUMG00000017774 NG_032269 12727900 PGOHUM00000238683 HGNC:39364 +HGNC:39365 HMGN1P21 high mobility group nucleosome binding domain 1 pseudogene 21 pseudogene pseudogene Approved 11p15.4 11p15.4 high-mobility group nucleosome binding domain 1 pseudogene 21 2010-11-30 2011-04-05 2011-09-21 728325 NG_005987 12727900 PGOHUM00000242128 HGNC:39365 +HGNC:39366 HMGN1P22 high mobility group nucleosome binding domain 1 pseudogene 22 pseudogene pseudogene Approved 11p15.3 11p15.3 high-mobility group nucleosome binding domain 1 pseudogene 22 2010-11-30 2011-04-05 2011-09-21 100874460 NG_032270 12727900 PGOHUM00000242169 HGNC:39366 +HGNC:39367 HMGN1P23 high mobility group nucleosome binding domain 1 pseudogene 23 pseudogene pseudogene Approved 12p13.1 12p13.1 high-mobility group nucleosome binding domain 1 pseudogene 23 2010-11-30 2011-04-05 2011-09-21 100874461 NG_032271 12727900 PGOHUM00000239683 HGNC:39367 +HGNC:39368 HMGN1P24 high mobility group nucleosome binding domain 1 pseudogene 24 pseudogene pseudogene Approved 13q32.1 13q32.1 high-mobility group nucleosome binding domain 1 pseudogene 24 2010-11-30 2011-04-05 2011-09-21 100874462 ENSG00000226977 OTTHUMG00000017228 NG_032272 PGOHUM00000248467 HGNC:39368 +HGNC:39369 HMGN1P25 high mobility group nucleosome binding domain 1 pseudogene 25 pseudogene pseudogene Approved 14q32.2 14q32.2 high-mobility group nucleosome binding domain 1 pseudogene 25 2010-11-30 2011-04-05 2011-09-21 100507124 NG_053195 PGOHUM00000248267 HGNC:39369 +HGNC:39370 HMGN1P26 high mobility group nucleosome binding domain 1 pseudogene 26 pseudogene pseudogene Approved 15q22.2 15q22.2 high-mobility group nucleosome binding domain 1 pseudogene 26 2010-11-30 2011-04-05 2012-10-03 100128015 ENSG00000259557 OTTHUMG00000171962 NG_028963 12727900 PGOHUM00000246817 HGNC:39370 +HGNC:39371 HMGN1P27 high mobility group nucleosome binding domain 1 pseudogene 27 pseudogene pseudogene Approved 15q24.3 15q24.3 high-mobility group nucleosome binding domain 1 pseudogene 27 2010-11-30 2011-04-05 2011-09-21 100874463 NG_034037 12727900 PGOHUM00000247187 HGNC:39371 +HGNC:39372 HMGN1P28 high mobility group nucleosome binding domain 1 pseudogene 28 pseudogene pseudogene Approved 17q23.2 17q23.2 high-mobility group nucleosome binding domain 1 pseudogene 28 2010-11-30 2011-04-05 2011-09-21 100874464 ENSG00000254114 OTTHUMG00000163587 NG_032274 12727900 PGOHUM00000237460 HGNC:39372 +HGNC:39373 HMGN1P29 high mobility group nucleosome binding domain 1 pseudogene 29 pseudogene pseudogene Approved 17q21.31 17q21.31 high-mobility group nucleosome binding domain 1 pseudogene 29 2010-11-30 2011-04-05 2012-05-21 100885865 NG_005905 12727900 PGOHUM00000237403 HGNC:39373 +HGNC:39374 HMGN1P30 high mobility group nucleosome binding domain 1 pseudogene 30 pseudogene pseudogene Approved 18q21.31 18q21.31 high-mobility group nucleosome binding domain 1 pseudogene 30 2010-11-30 2011-04-05 2012-11-07 100132992 ENSG00000235028 OTTHUMG00000179874 NG_027555 12727900 PGOHUM00000263438 HGNC:39374 +HGNC:39375 HMGN1P31 high mobility group nucleosome binding domain 1 pseudogene 31 pseudogene pseudogene Approved 18q21.32 18q21.32 high-mobility group nucleosome binding domain 1 pseudogene 31 2010-11-30 2011-04-05 2016-12-06 728111 ENSG00000267513 OTTHUMG00000180044 NG_027983 12727900 PGOHUM00000294676 HGNC:39375 +HGNC:39376 HMGN1P32 high mobility group nucleosome binding domain 1 pseudogene 32 pseudogene pseudogene Approved 19q13.42 19q13.42 high-mobility group nucleosome binding domain 1 pseudogene 32 2010-12-01 2011-04-05 2011-09-21 100874465 ENSG00000237589 OTTHUMG00000060742 NG_032275 12727900 PGOHUM00000234420 HGNC:39376 +HGNC:39377 HMGN1P33 high mobility group nucleosome binding domain 1 pseudogene 33 pseudogene pseudogene Approved Xp22.2 Xp22.2 high-mobility group nucleosome binding domain 1 pseudogene 33 2010-12-01 2011-04-05 2011-09-21 100874446 ENSG00000230326 OTTHUMG00000021120 NG_032276 12727900 PGOHUM00000241186 HGNC:39377 +HGNC:39378 HMGN1P34 high mobility group nucleosome binding domain 1 pseudogene 34 pseudogene pseudogene Approved Xq21.1 Xq21.1 high-mobility group nucleosome binding domain 1 pseudogene 34 2010-12-01 2011-04-05 2011-09-21 100874447 ENSG00000224755 OTTHUMG00000021890 NG_032277 12727900 PGOHUM00000241408 HGNC:39378 +HGNC:39379 HMGN1P35 high mobility group nucleosome binding domain 1 pseudogene 35 pseudogene pseudogene Approved Xq13.1 Xq13.1 high-mobility group nucleosome binding domain 1 pseudogene 35 2010-12-01 2011-04-05 2011-09-21 100874448 ENSG00000172186 OTTHUMG00000021752 NG_032278 12727900 PGOHUM00000241830 HGNC:39379 +HGNC:39380 HMGN1P36 high mobility group nucleosome binding domain 1 pseudogene 36 pseudogene pseudogene Approved 2q11.2 02q11.2 high-mobility group nucleosome binding domain 1 pseudogene 36 2010-12-01 2011-04-05 2011-09-21 728851 ENSG00000235734 OTTHUMG00000153063 NG_005985 12727900 HGNC:39380 +HGNC:39421 HMGN1P37 high mobility group nucleosome binding domain 1 pseudogene 37 pseudogene pseudogene Approved Xq28 Xq28 high-mobility group nucleosome binding domain 1 pseudogene 37 2010-12-07 2011-04-05 2012-10-03 728776 ENSG00000229237 OTTHUMG00000024241 NG_005984 12727900 PGOHUM00000241617 HGNC:39421 +HGNC:39422 HMGN1P38 high mobility group nucleosome binding domain 1 pseudogene 38 pseudogene pseudogene Approved 15q26.1 15q26.1 high-mobility group nucleosome binding domain 1 pseudogene 38 2010-12-07 2011-04-05 2011-09-21 643790 ENSG00000253954 OTTHUMG00000163610 NG_005986 12727900 HGNC:39422 +HGNC:4986 HMGN2 high mobility group nucleosomal binding domain 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 HMG17 "high-mobility group (nonhistone chromosomal) protein 17|high-mobility group nucleosomal binding domain 2" Canonical high mobility group 511 1988-07-19 2002-08-16 2011-04-05 2016-10-05 3151 ENSG00000198830 OTTHUMG00000003555 uc057dse.1 BC081567 NM_005517 CCDS283 P05204 2037294 MGI:96136 RGD:620649 163910 HGNC:4986 "ENST00000361427.6|NM_005517.4" +HGNC:19930 HMGN2P1 high mobility group nucleosomal binding domain 2 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 "HMGN2P|HMGN2L1" "high-mobility group nucleosomal binding domain 2 pseudogene|high-mobility group nucleosomal binding domain 2-like 1|high-mobility group nucleosomal binding domain 2 pseudogene 1" 2003-01-13 2010-11-23 2011-04-05 2014-11-19 319132 NG_002510 12727900 HGNC:19930 +HGNC:20016 HMGN2P2 high mobility group nucleosomal binding domain 2 pseudogene 2 pseudogene pseudogene Approved 14q31.1 14q31.1 HMGN2L2 "high-mobility group nucleosomal binding domain 2-like 2|high-mobility group nucleosomal binding domain 2 pseudogene 2" 2003-01-13 2010-11-23 2011-04-05 2020-04-07 317726 ENSG00000258452 OTTHUMG00000171444 NG_002460 12727900 HGNC:20016 +HGNC:33566 HMGN2P3 high mobility group nucleosomal binding domain 2 pseudogene 3 pseudogene pseudogene Approved 16p12.1 16p12.1 HMGN2L3 "high-mobility group nucleosomal binding domain 2-like 3|high-mobility group nucleosomal binding domain 2 pseudogene 3" 2007-08-03 2010-11-23 2011-04-05 2011-09-21 728632 ENSG00000230330 OTTHUMG00000059918 NG_005591 12727900 HGNC:33566 +HGNC:33567 HMGN2P4 high mobility group nucleosomal binding domain 2 pseudogene 4 pseudogene pseudogene Approved 5q13.3 05q13.3 HMGN2L4 "high-mobility group nucleosomal binding domain 2-like 4|high-mobility group nucleosomal binding domain 2 pseudogene 4" 2007-08-03 2010-11-23 2011-04-05 2011-09-21 643744 ENSG00000249014 OTTHUMG00000162400 NG_006596 12727900 HGNC:33567 +HGNC:33568 HMGN2P5 high mobility group nucleosomal binding domain 2 pseudogene 5 pseudogene pseudogene Approved 15q13.1 15q13.1 HMGN2L5 "high-mobility group nucleosomal binding domain 2-like 5|high-mobility group nucleosomal binding domain 2 pseudogene 5" 2007-08-03 2010-11-23 2011-04-05 2011-09-21 727795 ENSG00000234664 OTTHUMG00000172191 NG_006579 12727900 HGNC:33568 +HGNC:33574 HMGN2P6 high mobility group nucleosomal binding domain 2 pseudogene 6 pseudogene pseudogene Approved 14q12 14q12 HMGN2L6 "high-mobility group nucleosomal binding domain 2-like 6|high-mobility group nucleosomal binding domain 2 pseudogene 6" 2007-08-03 2010-11-23 2011-04-05 2012-10-05 643872 ENSG00000257179 OTTHUMG00000170312 NG_006597 12727900 PGOHUM00000258739 HGNC:33574 +HGNC:33575 HMGN2P7 high mobility group nucleosomal binding domain 2 pseudogene 7 pseudogene pseudogene Approved 3p25.1 03p25.1 HMGN2L7 "high-mobility group nucleosomal binding domain 2-like 7|high-mobility group nucleosomal binding domain 2 pseudogene 7" 2007-08-03 2010-11-23 2011-04-05 2011-09-21 644498 ENSG00000226427 OTTHUMG00000156873 NG_006600 12727900 HGNC:33575 +HGNC:31662 HMGN2P8 high mobility group nucleosomal binding domain 2 pseudogene 8 pseudogene pseudogene Approved 10q23.1 10q23.1 AC022394.1 HMGN2L8 "high-mobility group nucleosomal binding domain 2-like 8|high-mobility group nucleosomal binding domain 2 pseudogene 8" 2009-01-15 2010-11-23 2011-04-05 2014-11-19 100288691 ENSG00000212769 OTTHUMG00000018631 NG_027510 12727900 HGNC:31662 +HGNC:4987 HMGN2P9 high mobility group nucleosomal binding domain 2 pseudogene 9 pseudogene pseudogene Approved 22q13.31 22q13.31 dJ388M5.2 "HMG17L1|HMGN2L9" "high-mobility group (nonhistone chromosomal) protein 17-like 1|high-mobility group nucleosomal binding domain 2-like 9|high-mobility group nucleosomal binding domain 2 pseudogene 9" 1999-10-19 2010-11-23 2011-04-05 2011-09-21 23605 ENSG00000180150 OTTHUMG00000030777 NG_002646 "10591208|12727900" HGNC:4987 +HGNC:4988 HMGN2P10 high mobility group nucleosomal binding domain 2 pseudogene10 pseudogene pseudogene Approved 22q13.2 22q13.2 bK216E10 "HMG17L2|HMGN2L10" "high-mobility group (nonhistone chromosomal) protein 17-like 2|high-mobility group nucleosomal binding domain 2-like 10|high-mobility group nucleosomal binding domain 2 pseudogene10" 1999-10-19 2010-11-23 2011-04-05 2016-10-05 23606 ENSG00000231261 OTTHUMG00000151187 Z83840 NG_000892 "10591208|12727900" HGNC:4988 +HGNC:4990 HMGN2P11 high mobility group nucleosomal binding domain 2 pseudogene 11 pseudogene pseudogene Approved 7q21.11 07q21.11 28H "HMG17P1|HMGN2L11" "high-mobility group (nonhistone chromosomal) protein 17 pseudogene 1|high-mobility group nucleosomal binding domain 2-like 11|high-mobility group nucleosomal binding domain 2 pseudogene 11" 1988-07-19 2010-11-25 2011-04-05 2014-11-19 3152 ENSG00000232605 OTTHUMG00000154605 X06353 NG_001141 3441004 HGNC:4990 +HGNC:4991 HMGN2P12 high mobility group nucleosomal binding domain 2 pseudogene 12 pseudogene pseudogene Approved 6q21 06q21 60H "HMG17P2|HMGN2L12" "high-mobility group (nonhistone chromosomal) protein 17 pseudogene 2|high-mobility group nucleosomal binding domain 2-like 12|high-mobility group nucleosomal binding domain 2 pseudogene 12" 1988-07-19 2010-11-25 2011-04-05 2014-11-19 3153 X06444 NG_001142 3441004 HGNC:4991 +HGNC:33557 HMGN2P13 high mobility group nucleosomal binding domain 2 pseudogene 13 pseudogene pseudogene Approved 3q25.2 03q25.2 high-mobility group nucleosomal binding domain 2 pseudogene 13 2010-11-25 2011-04-05 2011-09-21 100289682 ENSG00000241810 OTTHUMG00000159686 NG_028936 12727900 HGNC:33557 +HGNC:23341 HMGN2P14 high mobility group nucleosomal binding domain 2 pseudogene14 pseudogene pseudogene Approved 14q23.2 14q23.2 high-mobility group nucleosomal binding domain 2 pseudogene14 2010-11-25 2011-04-05 2011-09-21 100874458 NG_011756 12727900 HGNC:23341 +HGNC:39020 HMGN2P15 high mobility group nucleosomal binding domain 2 pseudogene 15 pseudogene pseudogene Approved 17q21.2 17q21.2 high-mobility group nucleosomal binding domain 2 pseudogene 15 2010-11-25 2011-04-05 2016-10-05 100288165 ENSG00000214578 OTTHUMG00000180646 NG_028969 12727900 HGNC:39020 +HGNC:31330 HMGN2P16 high mobility group nucleosomal binding domain 2 pseudogene 16 pseudogene pseudogene Approved 9p22.3 09p22.3 Em:AL513423.2 HMGN2L "high-mobility group nucleosomal binding domain 2-like|high-mobility group nucleosomal binding domain 2 pseudogene 16" 2004-06-02 2010-11-25 2011-04-05 2014-11-19 728234 ENSG00000231376 OTTHUMG00000019585 NG_005991 12727900 HGNC:31330 +HGNC:39381 HMGN2P17 high mobility group nucleosomal binding domain 2 pseudogene 17 pseudogene pseudogene Approved 1p36.23 01p36.23 high-mobility group nucleosomal binding domain 2 pseudogene 17 2010-12-01 2011-04-05 2011-09-21 100113373 ENSG00000238249 OTTHUMG00000001781 NG_006598 12727900 HGNC:39381 +HGNC:39382 HMGN2P18 high mobility group nucleosomal binding domain 2 pseudogene 18 pseudogene pseudogene Approved 1q22 01q22 high-mobility group nucleosomal binding domain 2 pseudogene 18 2010-12-01 2011-04-05 2011-09-21 648822 ENSG00000223452 OTTHUMG00000013903 NG_027556 12727900 HGNC:39382 +HGNC:39383 HMGN2P19 high mobility group nucleosomal binding domain 2 pseudogene 19 pseudogene pseudogene Approved 1q42.13 01q42.13 high-mobility group nucleosomal binding domain 2 pseudogene 19 2010-12-01 2011-04-05 2011-09-21 100874466 ENSG00000229367 OTTHUMG00000039469 NG_032279 12727900 HGNC:39383 +HGNC:39385 HMGN2P20 high mobility group nucleosomal binding domain 2 pseudogene 20 pseudogene pseudogene Approved 2p23.3 02p23.3 high-mobility group nucleosomal binding domain 2 pseudogene 20 2010-12-01 2011-04-05 2012-05-29 646049 ENSG00000232963 OTTHUMG00000157047 NG_029250 12727900 HGNC:39385 +HGNC:39386 HMGN2P21 high mobility group nucleosomal binding domain 2 pseudogene 21 pseudogene pseudogene Approved 2p13.3 02p13.3 high-mobility group nucleosomal binding domain 2 pseudogene 21 2010-12-01 2011-04-05 2011-09-21 100874467 ENSG00000228034 OTTHUMG00000154079 NG_032280 12727900 HGNC:39386 +HGNC:39387 HMGN2P22 high mobility group nucleosomal binding domain 2 pseudogene 22 pseudogene pseudogene Approved 2q11.2 02q11.2 high-mobility group nucleosomal binding domain 2 pseudogene 22 2010-12-01 2011-04-05 2011-09-21 100874468 ENSG00000227259 OTTHUMG00000153161 NG_032281 12727900 HGNC:39387 +HGNC:39388 HMGN2P23 high mobility group nucleosomal binding domain 2 pseudogene 23 pseudogene pseudogene Approved 2q14.1 02q14.1 high-mobility group nucleosomal binding domain 2 pseudogene 23 2010-12-01 2011-04-05 2016-10-06 100874469 ENSG00000236124 OTTHUMG00000153321 NG_032282 12727900 HGNC:39388 +HGNC:39389 HMGN2P24 high mobility group nucleosomal binding domain 2 pseudogene 24 pseudogene pseudogene Approved 3p22.1 03p22.1 high-mobility group nucleosomal binding domain 2 pseudogene 24 2010-12-02 2011-04-05 2011-09-21 729505 ENSG00000229072 OTTHUMG00000156010 NG_027554 12727900 HGNC:39389 +HGNC:39392 HMGN2P25 high mobility group nucleosomal binding domain 2 pseudogene 25 pseudogene pseudogene Approved 3q23 03q23 high-mobility group nucleosomal binding domain 2 pseudogene 25 2010-12-02 2011-04-05 2011-09-21 729687 ENSG00000228398 OTTHUMG00000159069 NG_027552 12727900 HGNC:39392 +HGNC:39393 HMGN2P26 high mobility group nucleosomal binding domain 2 pseudogene 26 pseudogene pseudogene Approved 3q26.2 03q26.2 high-mobility group nucleosomal binding domain 2 pseudogene 26 2010-12-02 2011-04-05 2011-09-21 100874470 ENSG00000241203 OTTHUMG00000158561 NG_032284 12727900 HGNC:39393 +HGNC:39394 HMGN2P27 high mobility group nucleosomal binding domain 2 pseudogene 27 pseudogene pseudogene Approved 5q23.1 05q23.1 high-mobility group nucleosomal binding domain 2 pseudogene 27 2010-12-02 2011-04-05 2011-09-21 100874471 ENSG00000232916 OTTHUMG00000162924 NG_032285 12727900 HGNC:39394 +HGNC:39395 HMGN2P28 high mobility group nucleosomal binding domain 2 pseudogene 28 pseudogene pseudogene Approved 6p25.2 06p25.2 high-mobility group nucleosomal binding domain 2 pseudogene 28 2010-12-02 2011-04-05 2011-09-21 100128372 ENSG00000236086 OTTHUMG00000185340 NG_027664 12727900 HGNC:39395 +HGNC:39396 HMGN2P29 high mobility group nucleosomal binding domain 2 pseudogene 29 pseudogene pseudogene Approved 6q22.31 06q22.31 high-mobility group nucleosomal binding domain 2 pseudogene 29 2010-12-02 2011-04-05 2012-10-03 100874472 NG_032286 12727900 HGNC:39396 +HGNC:39397 HMGN2P30 high mobility group nucleosomal binding domain 2 pseudogene 30 pseudogene pseudogene Approved 7p14.1 07p14.1 high-mobility group nucleosomal binding domain 2 pseudogene 30 2010-12-02 2011-04-05 2011-09-21 100131183 ENSG00000213721 OTTHUMG00000155127 NG_008434 12727900 HGNC:39397 +HGNC:39398 HMGN2P31 high mobility group nucleosomal binding domain 2 pseudogene 31 pseudogene pseudogene Approved 9p24.1 09p24.1 high-mobility group nucleosomal binding domain 2 pseudogene 31 2010-12-02 2011-04-05 2011-09-21 645930 ENSG00000214195 OTTHUMG00000019497 NG_028976 12727900 HGNC:39398 +HGNC:39403 HMGN2P32 high mobility group nucleosomal binding domain 2 pseudogene 32 pseudogene pseudogene Approved 9q31.2 09q31.2 high-mobility group nucleosomal binding domain 2 pseudogene 32 2010-12-03 2011-04-05 2011-09-21 100874473 ENSG00000213558 OTTHUMG00000020448 NG_032289 12727900 HGNC:39403 +HGNC:39404 HMGN2P33 high mobility group nucleosomal binding domain 2 pseudogene 33 pseudogene pseudogene Approved 9q21.32 09q21.32 high-mobility group nucleosomal binding domain 2 pseudogene 33 2010-12-03 2011-04-05 2012-10-03 100874474 NG_032290 12727900 HGNC:39404 +HGNC:39405 HMGN2P34 high mobility group nucleosomal binding domain 2 pseudogene 34 pseudogene pseudogene Approved 10q22.1 10q22.1 high-mobility group nucleosomal binding domain 2 pseudogene 34 2010-12-03 2011-04-05 2011-09-21 100874478 ENSG00000231471 OTTHUMG00000018438 NG_032291 12727900 HGNC:39405 +HGNC:39406 HMGN2P35 high mobility group nucleosomal binding domain 2 pseudogene 35 pseudogene pseudogene Approved 10q24.1 10q24.1 high-mobility group nucleosomal binding domain 2 pseudogene 35 2010-12-03 2011-04-05 2011-09-21 100874479 ENSG00000232875 OTTHUMG00000018839 NG_051561 12727900 HGNC:39406 +HGNC:39407 HMGN2P36 high mobility group nucleosomal binding domain 2 pseudogene 36 pseudogene pseudogene Approved 11p15.2 11p15.2 high-mobility group nucleosomal binding domain 2 pseudogene 36 2010-12-03 2011-04-05 2016-10-06 100874480 ENSG00000228901 OTTHUMG00000165786 NG_032293 12727900 HGNC:39407 +HGNC:39408 HMGN2P37 high mobility group nucleosomal binding domain 2 pseudogene 37 pseudogene pseudogene Approved 11p11.2 11p11.2 high-mobility group nucleosomal binding domain 2 pseudogene 37 2010-12-03 2011-04-05 2011-09-21 100874481 NG_032294 12727900 HGNC:39408 +HGNC:39409 HMGN2P38 high mobility group nucleosomal binding domain 2 pseudogene 38 pseudogene pseudogene Approved 11q13.4 11q13.4 high-mobility group nucleosomal binding domain 2 pseudogene 38 2010-12-03 2011-04-05 2012-10-05 100874482 ENSG00000231726 OTTHUMG00000167999 NG_032295 12727900 HGNC:39409 +HGNC:39410 HMGN2P39 high mobility group nucleosomal binding domain 2 pseudogene 39 pseudogene pseudogene Approved 13q21.1 13q21.1 high-mobility group nucleosomal binding domain 2 pseudogene 39 2010-12-03 2011-04-05 2011-09-21 100874483 ENSG00000214281 OTTHUMG00000017000 NG_032296 12727900 HGNC:39410 +HGNC:39411 HMGN2P40 high mobility group nucleosomal binding domain 2 pseudogene 40 pseudogene pseudogene Approved 15q23 15q23 high-mobility group nucleosomal binding domain 2 pseudogene 40 2010-12-03 2011-04-05 2012-10-03 100874484 ENSG00000260602 OTTHUMG00000172681 NG_032297 12727900 HGNC:39411 +HGNC:39412 HMGN2P41 high mobility group nucleosomal binding domain 2 pseudogene 41 pseudogene pseudogene Approved 16p11.1 16p11.1 high-mobility group nucleosomal binding domain 2 pseudogene 41 2010-12-03 2011-04-05 2017-10-26 729564 ENSG00000261620 OTTHUMG00000176023 NG_006599 12727900 HGNC:39412 +HGNC:39413 HMGN2P42 high mobility group nucleosomal binding domain 2 pseudogene 42 pseudogene pseudogene Approved 17q23.2 17q23.2 high-mobility group nucleosomal binding domain 2 pseudogene 42 2010-12-03 2011-04-05 2013-01-23 100874485 NG_032298 12727900 HGNC:39413 +HGNC:39414 HMGN2P43 high mobility group nucleosomal binding domain 2 pseudogene 43 pseudogene pseudogene Approved 17q25.1 17q25.1 high-mobility group nucleosomal binding domain 2 pseudogene 43 2010-12-03 2011-04-05 2011-09-21 100874486 NG_032299 12727900 HGNC:39414 +HGNC:39415 HMGN2P44 high mobility group nucleosomal binding domain 2 pseudogene 44 pseudogene pseudogene Approved 18q12.1 18q12.1 high-mobility group nucleosomal binding domain 2 pseudogene 44 2010-12-03 2011-04-05 2011-09-21 100874487 NG_042056 12727900 HGNC:39415 +HGNC:39416 HMGN2P45 high mobility group nucleosomal binding domain 2 pseudogene 45 pseudogene pseudogene Approved Xp22.13 Xp22.13 high-mobility group nucleosomal binding domain 2 pseudogene 45 2010-12-03 2011-04-05 2011-09-21 100874475 NG_012557 12727900 HGNC:39416 +HGNC:26817 HMGN2P46 high mobility group nucleosomal binding domain 2 pseudogene 46 pseudogene pseudogene Approved 15q21.1 15q21.1 "FLJ39426|D-PCa-2" C15orf21 "chromosome 15 open reading frame 21|high-mobility group nucleosomal binding domain 2 pseudogene 46" 2004-02-23 2010-12-07 2011-04-05 2016-10-05 283651 ENSG00000179362 OTTHUMG00000153087 AK096745 NR_022014 Q86SG4 "15027122|12727900|24043589" 611314 HGNC:26817 +HGNC:44422 HMGN2P47 high mobility group nucleosomal binding domain 2 pseudogene 47 pseudogene pseudogene Approved 15q22.33 15q22.33 2012-10-08 2016-10-06 106480791 ENSG00000259246 OTTHUMG00000172244 NG_044102 HGNC:44422 +HGNC:55157 HMGN2P48 high mobility group nucleosomal binding domain 2 pseudogene 48 pseudogene pseudogene Approved Xq28 Xq28 2020-07-16 2020-11-11 100129956 ENSG00000229979 NG_029009 +HGNC:12312 HMGN3 high mobility group nucleosomal binding domain 3 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 TRIP7 thyroid hormone receptor interactor 7 Canonical high mobility group 511 1999-03-19 2002-07-26 2002-07-25 2016-10-05 9324 ENSG00000118418 OTTHUMG00000015073 uc003pit.4 L40357 NM_004242 "CCDS4989|CCDS4988|CCDS75485" Q15651 "7776974|11356838" MGI:2138069 RGD:1359106 604502 HGNC:12312 +HGNC:48984 HMGN3-AS1 HMGN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q14.1 06q14.1 Antisense RNAs 1987 2013-07-24 2013-07-24 100288198 ENSG00000270362 OTTHUMG00000185118 NR_040671 HMGN3-AS1 HGNC:48984 +HGNC:39206 HMGN3P1 high mobility group nucleosomal binding domain 3 pseudogene 1 pseudogene pseudogene Approved 1q21.3 01q21.3 2010-11-23 2011-09-21 100289191 ENSG00000183586 OTTHUMG00000012385 NG_028929 12727900 PGOHUM00000245004 HGNC:39206 +HGNC:4989 HMGN4 high mobility group nucleosomal binding domain 4 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 NHC HMG17L3 high-mobility group (nonhistone chromosomal) protein 17-like 3 Canonical high mobility group 511 2000-03-06 2002-07-26 2002-07-25 2016-10-05 10473 ENSG00000182952 OTTHUMG00000014458 uc003nig.4 U90549 NM_006353 CCDS4615 O00479 "9149941|11410162" RGD:2323648 HGNC:4989 "ENST00000377575.3|NM_006353.3" +HGNC:8013 HMGN5 high mobility group nucleosome binding domain 5 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 NSBP1 "nucleosomal binding protein 1|high-mobility group nucleosome binding domain 5" Canonical high mobility group 511 2000-04-03 2009-09-15 2011-04-05 2020-04-02 79366 ENSG00000198157 OTTHUMG00000021911 uc004eee.1 AF250329 NM_030763 CCDS14448 P82970 "11161810|19748358" MGI:1355295 RGD:6497694 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NSBP1 300385 HGNC:8013 "ENST00000358130.7|NM_030763.3" +HGNC:28982 HMGXB3 HMG-box containing 3 protein-coding gene gene with protein product Approved 5q32 05q32 "SMF|KIAA0194" HMGX3 HMG box domain containing 3 Non-canonical high mobility group 512 2008-11-20 2009-01-05 2016-01-26 2018-11-16 22993 ENSG00000113716 OTTHUMG00000163493 uc003lrk.5 D83778 NM_014983 CCDS54935 Q12766 8724849 MGI:2441817 RGD:1560009 619800 HGNC:28982 "ENST00000502717.6|NM_014983.3" HGNC:28982 +HGNC:5003 HMGXB4 HMG-box containing 4 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "THC211630|P53N" HMG2L1 "high-mobility group protein 2-like 1|HMG box domain containing 4" Non-canonical high mobility group 512 1999-01-07 2009-01-05 2016-01-26 2021-03-09 10042 ENSG00000100281 OTTHUMG00000150439 uc003anl.4 AJ010069 NM_005487 CCDS33641 Q9UGU5 "10329004|10591208|20511232" MGI:1918073 RGD:1305783 604702 HGNC:5003 "ENST00000216106.6|NM_001003681.3" +HGNC:29677 HMHB1 histocompatibility minor HB-1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "HB-1|HB-1Y" Minor histocompatibility antigens 870 2006-07-20 2016-06-21 2016-06-21 57824 ENSG00000158497 OTTHUMG00000163173 uc003lnj.5 AF103884 NM_021182 CCDS43376 O97980 9892612 609961 HGNC:29677 "ENST00000289448.4|NM_021182.3" +HGNC:5012 HMMR hyaluronan mediated motility receptor protein-coding gene gene with protein product Approved 5q34 05q34 "RHAMM|CD168" "hyaluronan-mediated motility receptor (RHAMM)|hyaluronan-mediated motility receptor" CD molecules 471 1995-11-14 2016-01-20 2016-01-20 3161 ENSG00000072571 OTTHUMG00000130381 uc003lzh.5 U29343 NM_012484 "CCDS4363|CCDS47335|CCDS4362|CCDS47334" O75330 MGI:104667 RGD:2805 600936 CD168 HGNC:5012 "ENST00000393915.9|NM_001142556.2" +HGNC:49149 HMMR-AS1 HMMR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Antisense RNAs 1987 2014-03-26 2018-06-20 101927813 ENSG00000251018 OTTHUMG00000163557 BU852496 NR_109892 "27920576|29574252" HMMR-AS1 HGNC:49149 +HGNC:5013 HMOX1 heme oxygenase 1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "bK286B10|HO-1" heme oxygenase (decycling) 1 1992-10-15 2015-03-20 2021-05-26 3162 ENSG00000100292 OTTHUMG00000150960 uc003ant.3 NM_002133 CCDS13914 P09601 10591208 MGI:96163 RGD:2806 141250 470460 objectId:1441 1.14.14.18 HGNC:5013 "ENST00000216117.9|NM_002133.3" HGNC:5013 +HGNC:5014 HMOX2 heme oxygenase 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HO-2 heme oxygenase (decycling) 2 1992-10-15 2015-03-20 2017-12-15 3163 ENSG00000103415 OTTHUMG00000129473 uc010bts.5 NM_001127204 "CCDS73818|CCDS66931|CCDS10517" P30519 1575508 MGI:109373 RGD:67402 141251 objectId:1442 1.14.14.18 HGNC:5014 "ENST00000570646.6|NM_002134.4" +HGNC:23037 HMSD histocompatibility minor serpin domain containing protein-coding gene gene with protein product Approved 18q22.1 18q22.1 "ACC-6|ACC6" C18orf53 histocompatibility (minor) serpin domain containing Minor histocompatibility antigens 870 2006-09-12 2016-04-06 2018-11-16 284293 ENSG00000221887 OTTHUMG00000060593 uc010dqj.4 AC009802 NM_001123366 CCDS42441 "A8MTL9|P0C7T4" 17409267 612086 HGNC:23037 "ENST00000408945.5|NM_001123366.2" +HGNC:5017 HMX1 H6 family homeobox 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "H6|NKX5-3" homeo box (H6 family) 1 NKL subclass homeoboxes and pseudogenes 519 1994-12-19 2007-07-09 2016-10-25 3166 ENSG00000215612 OTTHUMG00000160012 uc003izz.2 M99587 NM_018942 "CCDS77900|CCDS47018" Q9NP08 1360670 MGI:107178 RGD:1304928 142992 8442 159708 HGNC:5017 "ENST00000400677.5|NM_018942.3" HGNC:5017 +HGNC:5018 HMX2 H6 family homeobox 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 NKX5-2 homeo box (H6 family) 2 NKL subclass homeoboxes and pseudogenes 519 1994-12-19 2007-07-09 2018-11-16 3167 ENSG00000188816 OTTHUMG00000019198 uc001lhc.1 NM_005519 CCDS31305 A2RU54 7647458 MGI:107159 RGD:1565366 600647 8443 HGNC:5018 "ENST00000339992.4|NM_005519.2" +HGNC:5019 HMX3 H6 family homeobox 3 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 NKX5-1 homeo box (H6 family) 3 NKL subclass homeoboxes and pseudogenes 519 1995-01-20 2007-07-09 2018-11-16 340784 ENSG00000188620 OTTHUMG00000019199 uc010quc.3 NM_001105574 CCDS41575 A6NHT5 MGI:107160 RGD:1559927 613380 8377 HGNC:5019 "ENST00000357878.7|NM_001105574.2" +HGNC:11621 HNF1A HNF1 homeobox A protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "HNF1|LFB1|HNF1α" "MODY3|TCF1" transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor HNF class homeoboxes 524 1990-02-12 2007-08-24 2007-08-24 2021-05-26 6927 ENSG00000135100 OTTHUMG00000151015 uc001tzg.4 M57732 NM_000545 "CCDS9209|CCDS76611" P20823 "1535333|7795649" MGI:98504 RGD:3828 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HNF1A|LRG_522|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_522.xml" HNF1A 142410 8444 158583 HGNC:11621 "ENST00000257555.11|NM_000545.8" HGNC:11621 +HGNC:26785 HNF1A-AS1 HNF1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 "FLJ38690|HAS1" "C12orf27|NCRNA00262" "chromosome 12 open reading frame 27|non-protein coding RNA 262|HNF1A antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2006-01-06 2011-04-28 2012-08-15 2017-09-28 283460 ENSG00000241388 OTTHUMG00000185474 uc058uek.1 AK096009 NR_024345 "24000294|25863539|28943452" HNF1A-AS1 HGNC:26785 +HGNC:11630 HNF1B HNF1 homeobox B protein-coding gene gene with protein product Approved 17q12 17q12 "LFB3|VHNF1|HNF1beta|MODY5|HNF1β" hepatocyte nuclear factor 1 beta TCF2 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor HNF class homeoboxes 524 1990-05-28 2007-08-24 2007-08-24 2021-05-26 6928 ENSG00000275410 OTTHUMG00000188478 uc002hok.5 BC017714 NM_000458 "CCDS11324|CCDS77007|CCDS58538" P35680 "1677179|10484768" MGI:98505 RGD:3830 189907 8445 158588 HGNC:11630 "ENST00000617811.5|NM_000458.4" HGNC:11630 +HGNC:5024 HNF4A hepatocyte nuclear factor 4 alpha protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "NR2A1|HNF4" "TCF14|MODY|MODY1" "MicroRNA protein coding host genes|Hepatocyte nuclear factor 4 family" "1691|2085" 1998-04-20 2016-01-18 2021-05-26 3172 ENSG00000101076 OTTHUMG00000032531 uc002xlt.4 X76930 NM_000457 "CCDS46604|CCDS13330|CCDS42876|CCDS13331|CCDS74728|CCDS46605|CCDS68131" P41235 "7926813|9048927" MGI:109128 RGD:2810 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HNF4A|LRG_483|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_483.xml" 600281 122455 objectId:608 HGNC:5024 "ENST00000316099.10|NM_000457.6" HGNC:5024 +HGNC:49505 HNF4A-AS1 HNF4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 uc002xlx Antisense RNAs 1987 2014-01-02 2014-01-02 101927219 ENSG00000229005 OTTHUMG00000032525 AF143870 NR_109949 24344320 HNF4A-AS1 HGNC:49505 +HGNC:5026 HNF4G hepatocyte nuclear factor 4 gamma protein-coding gene gene with protein product Approved 8q21.13 08q21.13 NR2A2 Hepatocyte nuclear factor 4 family 2085 1998-04-20 2016-01-18 2016-10-05 3174 ENSG00000164749 OTTHUMG00000149920 uc003yar.4 NM_004133 CCDS83303 Q14541 "8622695|12220494" MGI:1353604 RGD:1310102 605966 objectId:609 HGNC:5026 "ENST00000396423.4|NM_004133.5" +HGNC:35417 HNF4GP1 hepatocyte nuclear factor 4 gamma pseudogene 1 pseudogene pseudogene Approved 13q21.1 13q21.1 2008-11-25 2016-01-18 2016-01-18 100130462 ENSG00000228611 OTTHUMG00000016986 NG_016594 18065488 PGOHUM00000248409 HGNC:35417 +HGNC:5028 HNMT histamine N-methyltransferase protein-coding gene gene with protein product Approved 2q22.1 02q22.1 7BS small molecule methyltransferases 2063 1994-04-18 2015-08-25 3176 ENSG00000150540 OTTHUMG00000131751 uc002tvf.4 NM_001024074 "CCDS33296|CCDS33297|CCDS2181" P50135 MGI:2153181 RGD:71049 605238 448453 2.1.1.8 HGNC:5028 "ENST00000280097.5|NM_006895.3" HGNC:5028 +HGNC:5030 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 HNRPA0 "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1999-09-28 2007-08-16 2020-05-04 10949 ENSG00000177733 OTTHUMG00000129156 uc003lbt.4 U23803 NM_006805 CCDS4193 Q13151 7585247 MGI:1924384 RGD:1563684 609409 HGNC:5030 "ENST00000314940.7|NM_006805.4" HGNC:5030 +HGNC:5031 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "hnRNP-A1|ALS20" HNRPA1 "RNA binding motif containing|Spliceosomal A complex|Heterogeneous nuclear ribonucleoproteins" "725|1504|1950" 1991-05-21 2007-08-16 2021-05-26 3178 ENSG00000135486 OTTHUMG00000169702 uc001sfm.4 BC009600 NM_031157 "CCDS41793|CCDS44909" P09651 "1733858|23455423" MGI:104820 RGD:69234 164017 331931 HGNC:5031 "ENST00000340913.11|NM_031157.4" HGNC:5031 +HGNC:27067 HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 LOC144983 "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2009-01-09 2019-02-18 2019-02-18 144983 ENSG00000139675 OTTHUMG00000016972 uc021rjy.3 NM_001011724 CCDS31980 Q32P51 12477932 MGI:104820 HGNC:27067 "ENST00000357495.5|NM_001389320.1" +HGNC:48778 HNRNPA1L3 heterogeneous nuclear ribonucleoprotein A1 like 3 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 HNRNPA1P48 heterogeneous nuclear ribonucleoprotein A1 pseudogene 48 2013-06-13 2021-10-05 2021-10-05 2021-10-06 642659 ENSG00000224578 OTTHUMG00000173250 NM_001396241 A0A2R8Y4L2 HGNC:48778 +HGNC:13957 HNRNPA1P1 heterogeneous nuclear ribonucleoprotein A1 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "hnRNPA1-Lp|b34I8.2" HNRPA1P1 2003-11-26 2008-04-18 2016-10-05 645950 ENSG00000218347 OTTHUMG00000014479 NG_008821 PGOHUM00000243531 HGNC:13957 +HGNC:13958 HNRNPA1P2 heterogeneous nuclear ribonucleoprotein A1 pseudogene 2 pseudogene pseudogene Approved 6p21.32 06p21.32 dJ372B18.1 HNRPA1P2 2003-11-26 2008-04-18 2014-11-19 100131609 ENSG00000237285 OTTHUMG00000031294 NG_008818 PGOHUM00000243588 HGNC:13958 +HGNC:16567 HNRNPA1P3 heterogeneous nuclear ribonucleoprotein A1 pseudogene 3 pseudogene pseudogene Approved 20q13.12 20q13.12 dJ447F3.1 HNRPA1P3 2001-09-17 2008-04-18 2011-01-05 170524 ENSG00000226188 OTTHUMG00000032613 AL050348 NG_001041 HGNC:16567 +HGNC:32234 HNRNPA1P4 heterogeneous nuclear ribonucleoprotein A1 pseudogene 4 pseudogene pseudogene Approved 8q21.13 08q21.13 HNRPA1P4 2005-09-02 2008-04-18 2014-11-19 389674 ENSG00000206228 OTTHUMG00000163344 NG_005789 PGOHUM00000250010 HGNC:32234 +HGNC:15787 HNRNPA1P5 heterogeneous nuclear ribonucleoprotein A1 pseudogene 5 pseudogene pseudogene Approved 15q23 15q23 2010-10-19 2012-10-16 100506712 ENSG00000259512 OTTHUMG00000172249 NG_028964 PGOHUM00000247151 HGNC:15787 +HGNC:5032 HNRNPA1P6 heterogeneous nuclear ribonucleoprotein A1 pseudogene 6 pseudogene pseudogene Approved 1p32.2 01p32.2 "HNRPA1L|HNRNPA1L|HNRNPA1L1" "heterogeneous nuclear ribonucleoprotein A1-like|heterogeneous nuclear ribonucleoprotein A1-like 1" 1991-05-21 2010-10-19 2010-10-19 2014-11-19 729423 ENSG00000229887 OTTHUMG00000010071 NG_009623 1733858 PGOHUM00000244044 HGNC:5032 +HGNC:31015 HNRNPA1P7 heterogeneous nuclear ribonucleoprotein A1 pseudogene 7 pseudogene pseudogene Approved 18q12.1 18q12.1 HNRPA1L3 heterogeneous nuclear ribonucleoprotein A1-like 3 2004-02-10 2010-10-19 2010-10-19 2010-10-19 388275 ENSG00000215492 OTTHUMG00000163726 NG_005529 HGNC:31015 +HGNC:39126 HNRNPA1P8 heterogeneous nuclear ribonucleoprotein A1 pseudogene 8 pseudogene pseudogene Approved 7q21.11 07q21.11 2010-10-19 2010-10-19 402562 ENSG00000229251 OTTHUMG00000154606 NG_006966 PGOHUM00000233459 HGNC:39126 +HGNC:39127 HNRNPA1P9 heterogeneous nuclear ribonucleoprotein A1 pseudogene 9 pseudogene pseudogene Approved 7q21.12 07q21.12 2010-10-19 2012-03-12 100421389 ENSG00000231956 OTTHUMG00000154450 NG_026603 PGOHUM00000233461 HGNC:39127 +HGNC:39128 HNRNPA1P10 heterogeneous nuclear ribonucleoprotein A1 pseudogene 10 pseudogene pseudogene Approved 19p13.2 19p13.2 2010-10-19 2013-06-12 664709 ENSG00000214223 OTTHUMG00000156531 NR_002944 PGOHUM00000234158 HGNC:39128 +HGNC:39129 HNRNPA1P11 heterogeneous nuclear ribonucleoprotein A1 pseudogene 11 pseudogene pseudogene Approved 18q22.3 18q22.3 2010-10-19 2013-06-13 100128044 ENSG00000264315 OTTHUMG00000178796 NG_022497 PGOHUM00000235100 HGNC:39129 +HGNC:39130 HNRNPA1P12 heterogeneous nuclear ribonucleoprotein A1 pseudogene 12 pseudogene pseudogene Approved 5q14.1 05q14.1 2010-10-19 2013-06-13 644037 ENSG00000220157 OTTHUMG00000162536 NG_021856 PGOHUM00000235293 HGNC:39130 +HGNC:39131 HNRNPA1P13 heterogeneous nuclear ribonucleoprotein A1 pseudogene 13 pseudogene pseudogene Approved 5q31.1 05q31.1 2010-10-19 2013-06-13 100131130 ENSG00000213568 OTTHUMG00000163217 NG_021898 PGOHUM00000235766 HGNC:39131 +HGNC:39132 HNRNPA1P14 heterogeneous nuclear ribonucleoprotein A1 pseudogene 14 pseudogene pseudogene Approved 9q22.1 09q22.1 2010-10-19 2012-03-12 100421351 ENSG00000227638 OTTHUMG00000020169 NG_023844 PGOHUM00000236250 HGNC:39132 +HGNC:39133 HNRNPA1P15 heterogeneous nuclear ribonucleoprotein A1 pseudogene 15 pseudogene pseudogene Approved 9q33.3 09q33.3 2010-10-19 2012-03-12 100421353 ENSG00000214761 OTTHUMG00000020680 NG_023957 PGOHUM00000236772 HGNC:39133 +HGNC:39134 HNRNPA1P16 heterogeneous nuclear ribonucleoprotein A1 pseudogene 16 pseudogene pseudogene Approved 17p13.3 17p13.3 2010-10-19 2012-10-16 440396 ENSG00000262333 OTTHUMG00000177701 NG_009621 PGOHUM00000262359 HGNC:39134 +HGNC:39135 HNRNPA1P17 heterogeneous nuclear ribonucleoprotein A1 pseudogene 17 pseudogene pseudogene Approved 3q13.13 03q13.13 2010-10-19 2013-06-13 100421376 ENSG00000243188 OTTHUMG00000159225 NG_025606 PGOHUM00000237711 HGNC:39135 +HGNC:39445 HNRNPA1P18 heterogeneous nuclear ribonucleoprotein A1 pseudogene 18 pseudogene pseudogene Approved 13q21.33 13q21.33 2011-01-12 2011-01-12 2014-02-12 100874400 ENSG00000229910 OTTHUMG00000017045 NG_032303 PGOHUM00000261152 HGNC:39445 +HGNC:39537 HNRNPA1P19 heterogeneous nuclear ribonucleoprotein A1 pseudogene 19 pseudogene pseudogene Approved 17p11.2 17p11.2 2011-02-21 2014-11-19 100874402 ENSG00000218454 OTTHUMG00000059554 NG_032318 PGOHUM00000236975 HGNC:39537 +HGNC:39538 HNRNPA1P20 heterogeneous nuclear ribonucleoprotein A1 pseudogene 20 pseudogene pseudogene Approved 3q24 03q24 2011-02-21 2014-11-19 344741 ENSG00000205412 OTTHUMG00000159499 NG_022223 PGOHUM00000237807 HGNC:39538 +HGNC:39539 HNRNPA1P21 heterogeneous nuclear ribonucleoprotein A1 pseudogene 21 pseudogene pseudogene Approved 3p22.1 03p22.1 2011-02-21 2016-10-05 344697 ENSG00000228168 OTTHUMG00000156248 NG_002728 PGOHUM00000238000 HGNC:39539 +HGNC:39540 HNRNPA1P22 heterogeneous nuclear ribonucleoprotein A1 pseudogene 22 pseudogene pseudogene Approved 3p22.1 03p22.1 2011-02-21 2014-11-19 729102 ENSG00000236459 OTTHUMG00000156284 NG_022249 PGOHUM00000238011 HGNC:39540 +HGNC:39541 HNRNPA1P23 heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 pseudogene pseudogene Approved 3q21.1 03q21.1 2011-02-21 2014-11-19 100130002 ENSG00000240236 OTTHUMG00000159493 NG_022268 PGOHUM00000238153 HGNC:39541 +HGNC:39542 HNRNPA1P24 heterogeneous nuclear ribonucleoprotein A1 pseudogene 24 pseudogene pseudogene Approved 3q25.1 03q25.1 2011-02-21 2014-11-18 100874396 ENSG00000241947 OTTHUMG00000159736 NG_032319 PGOHUM00000238228 HGNC:39542 +HGNC:39543 HNRNPA1P25 heterogeneous nuclear ribonucleoprotein A1 pseudogene 25 pseudogene pseudogene Approved Xq13.2 Xq13.2 2011-02-21 2014-11-19 100131983 ENSG00000231206 OTTHUMG00000021856 NG_028960 PGOHUM00000241399 HGNC:39543 +HGNC:39544 HNRNPA1P26 heterogeneous nuclear ribonucleoprotein A1 pseudogene 26 pseudogene pseudogene Approved Xq22.1 Xq22.1 2011-02-21 2014-11-19 664722 ENSG00000239345 OTTHUMG00000022008 NG_005517 PGOHUM00000241465 HGNC:39544 +HGNC:39545 HNRNPA1P27 heterogeneous nuclear ribonucleoprotein A1 pseudogene 27 pseudogene pseudogene Approved Xq22.1 Xq22.1 2011-02-21 2014-11-19 664721 ENSG00000233680 OTTHUMG00000022009 NG_005516 PGOHUM00000241466 HGNC:39545 +HGNC:39546 HNRNPA1P28 heterogeneous nuclear ribonucleoprotein A1 pseudogene 28 pseudogene pseudogene Approved Xq24 Xq24 2011-02-21 2014-11-19 100288038 ENSG00000230170 OTTHUMG00000022266 NG_022695 PGOHUM00000241971 HGNC:39546 +HGNC:39547 HNRNPA1P29 heterogeneous nuclear ribonucleoprotein A1 pseudogene 29 pseudogene pseudogene Approved 13q31.3 13q31.3 2011-02-21 2014-11-19 100421424 ENSG00000235784 OTTHUMG00000017202 NG_011880 PGOHUM00000248463 HGNC:39547 +HGNC:39548 HNRNPA1P30 heterogeneous nuclear ribonucleoprotein A1 pseudogene 30 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-02-21 2014-11-19 440125 ENSG00000233780 OTTHUMG00000016523 NG_011345 PGOHUM00000261150 HGNC:39548 +HGNC:39549 HNRNPA1P31 heterogeneous nuclear ribonucleoprotein A1 pseudogene 31 pseudogene pseudogene Approved 13q31.1 13q31.1 2011-02-21 2014-11-19 100506925 ENSG00000227862 OTTHUMG00000017141 NG_028977 PGOHUM00000248446 HGNC:39549 +HGNC:44958 HNRNPA1P32 heterogeneous nuclear ribonucleoprotein A1 pseudogene 32 pseudogene pseudogene Approved 10p11.23 10p11.23 2012-12-20 2012-12-20 645940 ENSG00000213778 OTTHUMG00000017893 NG_030272 PGOHUM00000261082 HGNC:44958 +HGNC:44990 HNRNPA1P33 heterogeneous nuclear ribonucleoprotein A1 pseudogene 33 pseudogene pseudogene Approved 10q11.22 10q11.22 2013-01-04 2013-01-04 728643 ENSG00000213412 OTTHUMG00000018110 NR_003277 PGOHUM00000261085 HGNC:44990 +HGNC:48763 HNRNPA1P34 heterogeneous nuclear ribonucleoprotein A1 pseudogene 34 pseudogene pseudogene Approved 12p13.31 12p13.31 2013-06-13 2013-06-13 100996501 ENSG00000213049 OTTHUMG00000168286 PGOHUM00000256690 HGNC:48763 +HGNC:48764 HNRNPA1P35 heterogeneous nuclear ribonucleoprotein A1 pseudogene 35 pseudogene pseudogene Approved 2q33.1 02q33.1 2013-06-13 2013-06-13 645691 ENSG00000225695 OTTHUMG00000154714 NG_021599 PGOHUM00000241062 HGNC:48764 +HGNC:48765 HNRNPA1P36 heterogeneous nuclear ribonucleoprotein A1 pseudogene 36 pseudogene pseudogene Approved 8q21.13 08q21.13 2013-06-13 2013-06-13 100128836 ENSG00000231942 OTTHUMG00000164728 NG_030276 PGOHUM00000257212 HGNC:48765 +HGNC:48766 HNRNPA1P37 heterogeneous nuclear ribonucleoprotein A1 pseudogene 37 pseudogene pseudogene Approved 6p25.1 06p25.1 2013-06-13 2013-06-13 100421379 ENSG00000218574 OTTHUMG00000014177 NG_025781 PGOHUM00000261419 HGNC:48766 +HGNC:48767 HNRNPA1P38 heterogeneous nuclear ribonucleoprotein A1pseudogene 38 pseudogene pseudogene Approved 8q24.3 08q24.3 2013-06-13 2013-06-13 100421384 ENSG00000253605 OTTHUMG00000164496 NG_026136 PGOHUM00000249809 HGNC:48767 +HGNC:48768 HNRNPA1P39 heterogeneous nuclear ribonucleoprotein A1 pseudogene 39 pseudogene pseudogene Approved 2q31.1 02q31.1 2013-06-13 2013-06-13 402112 ENSG00000237804 OTTHUMG00000154151 NG_021539 PGOHUM00000240435 HGNC:48768 +HGNC:48769 HNRNPA1P40 heterogeneous nuclear ribonucleoprotein A1 pseudogene 40 pseudogene pseudogene Approved 11q13.4 11q13.4 2013-06-13 2013-06-13 100129920 ENSG00000212961 OTTHUMG00000168133 NG_021823 PGOHUM00000242802 HGNC:48769 +HGNC:48770 HNRNPA1P41 heterogeneous nuclear ribonucleoprotein A1 pseudogene 41 pseudogene pseudogene Approved 9p24.1 09p24.1 2013-06-13 2013-06-13 100128701 ENSG00000220937 OTTHUMG00000019475 NG_009758 PGOHUM00000264403 HGNC:48770 +HGNC:48771 HNRNPA1P42 heterogeneous nuclear ribonucleoprotein A1 pseudogene 42 pseudogene pseudogene Approved 1q43 01q43 2013-06-13 2013-06-13 100287266 ENSG00000233615 OTTHUMG00000040728 NG_022832 PGOHUM00000245274 HGNC:48771 +HGNC:48772 HNRNPA1P43 heterogeneous nuclear ribonucleoprotein A1 pseudogene 43 pseudogene pseudogene Approved 1p13.1 01p13.1 2013-06-13 2013-06-13 400769 ENSG00000214204 OTTHUMG00000011968 NG_022734 PGOHUM00000244154 HGNC:48772 +HGNC:48774 HNRNPA1P44 heterogeneous nuclear ribonucleoprotein A1 pseudogene 44 pseudogene pseudogene Approved 15q22.31 15q22.31 2013-06-13 2013-06-13 100421432 ENSG00000249271 OTTHUMG00000172813 NG_025327 PGOHUM00000261171 HGNC:48774 +HGNC:48775 HNRNPA1P45 heterogeneous nuclear ribonucleoprotein A1 pseudogene 45 pseudogene pseudogene Approved 15q14 15q14 2013-06-13 2013-06-13 100130660 ENSG00000259411 OTTHUMG00000172346 NG_022125 PGOHUM00000247090 HGNC:48775 +HGNC:48776 HNRNPA1P46 heterogeneous nuclear ribonucleoprotein A1 pseudogene 46 pseudogene pseudogene Approved 1q31.2 01q31.2 2013-06-13 2013-06-13 100421399 ENSG00000228020 OTTHUMG00000035529 NG_027029 PGOHUM00000244378 HGNC:48776 +HGNC:48777 HNRNPA1P47 heterogeneous nuclear ribonucleoprotein A1 pseudogene 47 pseudogene pseudogene Approved 2q32.3 02q32.3 2013-06-13 2013-06-13 100287191 ENSG00000236695 OTTHUMG00000154355 NG_021596 PGOHUM00000241051 HGNC:48777 +HGNC:48779 HNRNPA1P49 heterogeneous nuclear ribonucleoprotein A1 pseudogene 49 pseudogene pseudogene Approved 6q27 06q27 2013-06-13 2013-06-13 106481663 ENSG00000233231 OTTHUMG00000015995 NG_044936 PGOHUM00000260193 HGNC:48779 +HGNC:48780 HNRNPA1P50 heterogeneous nuclear ribonucleoprotein A1 pseudogene 50 pseudogene pseudogene Approved 12q22 12q22 2013-06-13 2013-06-13 728170 ENSG00000257195 OTTHUMG00000170108 NG_021730 PGOHUM00000239891 HGNC:48780 +HGNC:48781 HNRNPA1P51 heterogeneous nuclear ribonucleoprotein A1 pseudogene 51 pseudogene pseudogene Approved 2q33.3 02q33.3 2013-06-13 2013-06-13 729366 ENSG00000234491 OTTHUMG00000154646 NG_021550 PGOHUM00000240502 HGNC:48781 +HGNC:48782 HNRNPA1P52 heterogeneous nuclear ribonucleoprotein A1 pseudogene 52 pseudogene pseudogene Approved 19q13.2 19q13.2 2013-06-13 2013-06-13 645001 ENSG00000269119 OTTHUMG00000182661 NG_030273 PGOHUM00000234709 HGNC:48782 +HGNC:48783 HNRNPA1P53 heterogeneous nuclear ribonucleoprotein A1 pseudogene 53 pseudogene pseudogene Approved 11p15.4 11p15.4 2013-06-13 2013-06-13 728732 ENSG00000229534 OTTHUMG00000066898 NG_021771 PGOHUM00000242151 HGNC:48783 +HGNC:48784 HNRNPA1P54 heterogeneous nuclear ribonucleoprotein A1 pseudogene 54 pseudogene pseudogene Approved 1q25.2 01q25.2 2013-06-13 2013-06-13 100421398 ENSG00000236539 OTTHUMG00000035268 NG_027023 PGOHUM00000244357 HGNC:48784 +HGNC:48785 HNRNPA1P55 heterogeneous nuclear ribonucleoprotein A1 pseudogene 55 pseudogene pseudogene Approved 4q13.3 04q13.3 2013-06-13 2013-06-13 642958 ENSG00000249920 OTTHUMG00000160860 NG_022013 PGOHUM00000245589 HGNC:48785 +HGNC:48786 HNRNPA1P56 heterogeneous nuclear ribonucleoprotein A1 pseudogene 56 pseudogene pseudogene Approved 4q21.1 04q21.1 2013-06-13 2016-10-05 391670 ENSG00000248640 OTTHUMG00000160850 NG_022016 PGOHUM00000245604 HGNC:48786 +HGNC:48787 HNRNPA1P57 heterogeneous nuclear ribonucleoprotein A1 pseudogene 57 pseudogene pseudogene Approved 2p22.1 02p22.1 2013-06-13 2013-09-20 101060039 ENSG00000237442 OTTHUMG00000152297 PGOHUM00000261352 HGNC:48787 +HGNC:48788 HNRNPA1P58 heterogeneous nuclear ribonucleoprotein A1 pseudogene 58 pseudogene pseudogene Approved 6p22.3 06p22.3 2013-06-13 2013-06-13 100289286 ENSG00000219582 OTTHUMG00000014353 NG_022348 PGOHUM00000261427 HGNC:48788 +HGNC:48789 HNRNPA1P59 heterogeneous nuclear ribonucleoprotein A1 pseudogene 59 pseudogene pseudogene Approved 1q32.1 01q32.1 2013-06-13 2013-06-13 730246 ENSG00000230280 OTTHUMG00000041398 NG_022824 PGOHUM00000245164 HGNC:48789 +HGNC:48790 HNRNPA1P60 heterogeneous nuclear ribonucleoprotein A1 pseudogene 60 pseudogene pseudogene Approved 11q23.1 11q23.1 2013-06-13 2013-06-13 120364 ENSG00000233497 OTTHUMG00000166646 NG_021803 PGOHUM00000242478 HGNC:48790 +HGNC:48791 HNRNPA1P61 heterogeneous nuclear ribonucleoprotein A1 pseudogene 61 pseudogene pseudogene Approved 2p22.3 02p22.3 2013-06-13 2013-06-13 100288283 ENSG00000187999 OTTHUMG00000152163 NG_021559 PGOHUM00000240618 HGNC:48791 +HGNC:48792 HNRNPA1P62 heterogeneous nuclear ribonucleoprotein A1 pseudogene 62 pseudogene pseudogene Approved 15q26.3 15q26.3 2013-06-13 2013-06-13 106480235 ENSG00000259228 OTTHUMG00000171905 NG_043767 PGOHUM00000246937 HGNC:48792 +HGNC:48793 HNRNPA1P63 heterogeneous nuclear ribonucleoprotein A1 pseudogene 63 pseudogene pseudogene Approved 1p32.3 01p32.3 2013-06-13 2013-06-13 645436 ENSG00000227453 OTTHUMG00000008361 NG_022780 PGOHUM00000244730 HGNC:48793 +HGNC:48794 HNRNPA1P64 heterogeneous nuclear ribonucleoprotein A1 pseudogene 64 pseudogene pseudogene Approved 1p31.1 01p31.1 2013-06-13 2013-06-13 100129325 ENSG00000213559 OTTHUMG00000000524 NG_032722 PGOHUM00000244080 HGNC:48794 +HGNC:48795 HNRNPA1P65 heterogeneous nuclear ribonucleoprotein A1 pseudogene 65 pseudogene pseudogene Approved 4p15.2 04p15.2 2013-06-13 2013-06-13 106481664 ENSG00000248444 OTTHUMG00000160307 NG_042906 PGOHUM00000261385 HGNC:48795 +HGNC:48796 HNRNPA1P66 heterogeneous nuclear ribonucleoprotein A1 pseudogene 66 pseudogene pseudogene Approved 2p15 02p15 2013-06-13 2013-06-13 391378 ENSG00000229221 OTTHUMG00000152609 NG_021502 PGOHUM00000240070 HGNC:48796 +HGNC:48797 HNRNPA1P67 heterogeneous nuclear ribonucleoprotein A1 pseudogene 67 pseudogene pseudogene Approved 4q13.3 04q13.3 2013-06-13 2016-11-09 728019 ENSG00000270665 OTTHUMG00000160810 NG_022062 PGOHUM00000300258 HGNC:48797 +HGNC:48798 HNRNPA1P68 heterogeneous nuclear ribonucleoprotein A1 pseudogene 68 pseudogene pseudogene Approved 1p21.2 01p21.2 2013-06-13 2013-06-13 100421397 ENSG00000230946 OTTHUMG00000057599 NG_026964 PGOHUM00000244122 HGNC:48798 +HGNC:48799 HNRNPA1P69 heterogeneous nuclear ribonucleoprotein A1 pseudogene 69 pseudogene pseudogene Approved 12q14.2 12q14.2 2013-06-13 2013-06-13 105369973 ENSG00000257332 OTTHUMG00000169982 NG_046385 PGOHUM00000261145 HGNC:48799 +HGNC:48800 HNRNPA1P70 heterogeneous nuclear ribonucleoprotein A1 pseudogene 70 pseudogene pseudogene Approved 12q15 12q15 2013-06-13 2013-06-13 341333 ENSG00000236946 OTTHUMG00000169109 NG_021724 PGOHUM00000239839 HGNC:48800 +HGNC:48801 HNRNPA1P71 heterogeneous nuclear ribonucleoprotein A1 pseudogene 71 pseudogene pseudogene Approved 15q13.3 15q13.3 2013-06-13 2013-06-13 100421433 ENSG00000259686 OTTHUMG00000172233 NG_025372 PGOHUM00000247077 HGNC:48801 +HGNC:48802 HNRNPA1P72 heterogeneous nuclear ribonucleoprotein A1 pseudogene 72 pseudogene pseudogene Approved 11q14.1 11q14.1 2013-06-13 2014-02-12 106480236 ENSG00000254713 OTTHUMG00000167148 NG_021375 PGOHUM00000261115 HGNC:48802 +HGNC:48803 HNRNPA1P73 heterogeneous nuclear ribonucleoprotein A1 pseudogene 73 pseudogene pseudogene Approved 7p15.2 07p15.2 2013-06-13 2013-06-13 100129606 ENSG00000236569 OTTHUMG00000033395 PGOHUM00000261443 +HGNC:48804 HNRNPA1P74 heterogeneous nuclear ribonucleoprotein A1 pseudogene 74 pseudogene pseudogene Approved 15q21.3 15q21.3 2013-06-13 2013-06-13 100421430 ENSG00000259550 OTTHUMG00000172593 NG_025316 PGOHUM00000246790 HGNC:48804 +HGNC:48805 HNRNPA1P75 heterogeneous nuclear ribonucleoprotein A1 pseudogene 75 pseudogene pseudogene Approved 7q11.21 07q11.21 2013-06-13 2013-06-13 112436691 NG_056806 PGOHUM00000261495 HGNC:48805 +HGNC:48806 HNRNPA1P76 heterogeneous nuclear ribonucleoprotein A1 pseudogene 76 pseudogene pseudogene Approved 11p15.4 11p15.4 2013-06-13 2013-06-13 106480675 ENSG00000255141 OTTHUMG00000165494 NG_043196 PGOHUM00000261104 HGNC:48806 +HGNC:48807 HNRNPA1P77 heterogeneous nuclear ribonucleoprotein A1 pseudogene 77 pseudogene pseudogene Approved 3p21.31 03p21.31 2013-06-13 2013-06-13 100421378 NG_025692 PGOHUM00000238015 HGNC:48807 +HGNC:5033 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 HNRPA2B1 "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1994-08-29 2007-08-16 2016-10-05 3181 ENSG00000122566 OTTHUMG00000023471 uc003sxs.5 D28877 NM_002137 "CCDS43557|CCDS5397" P22626 8029005 MGI:104819 RGD:1310403 HNRNPA2B1 600124 331927 HGNC:5033 "ENST00000618183.5|NM_002137.4" HGNC:5033 +HGNC:24941 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 HNRPA3 "RNA binding motif containing|MicroRNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins" "725|1691|1950" 2004-08-04 2008-04-18 2015-09-11 220988 ENSG00000170144 OTTHUMG00000132529 uc031rqb.2 AF517524 NM_194247 "CCDS82536|CCDS2273" P51991 "11886857|15776420" MGI:1917171 RGD:727807 605372 HGNC:24941 +HGNC:13729 HNRNPA3P1 heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 "FBRNP|D10S102" "HNRPA3|HNRPA3P1" heterogeneous nuclear ribonucleoprotein A3 2000-12-04 2008-04-18 2004-08-04 2013-05-15 10151 ENSG00000226790 OTTHUMG00000039983 S63912 NR_002726 8101480 PGOHUM00000258471 HGNC:13729 +HGNC:16605 HNRNPA3P2 heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 pseudogene pseudogene Approved 20q11.23 20q11.23 dJ977B1.2 "HNRPA3P|HNRPA3P2" heterogeneous nuclear ribonucleoprotein A3 pseudogene 2001-09-17 2008-04-18 2004-08-04 2011-03-29 170526 ENSG00000227688 OTTHUMG00000032385 AL031662 NG_031823 HGNC:16605 +HGNC:39772 HNRNPA3P3 heterogeneous nuclear ribonucleoprotein A3 pseudogene 3 pseudogene pseudogene Approved Xq27.1 Xq27.1 2011-03-29 2014-11-19 643689 ENSG00000214653 OTTHUMG00000022541 NG_005582 PGOHUM00000260991 HGNC:39772 +HGNC:39773 HNRNPA3P4 heterogeneous nuclear ribonucleoprotein A3 pseudogene 4 pseudogene pseudogene Approved 6p12.3 06p12.3 2011-03-29 2014-11-19 389395 ENSG00000226068 OTTHUMG00000014806 NG_005583 PGOHUM00000260125 HGNC:39773 +HGNC:39774 HNRNPA3P5 heterogeneous nuclear ribonucleoprotein A3 pseudogene 5 pseudogene pseudogene Approved 13q21.32 13q21.32 2011-03-29 2014-11-19 387933 ENSG00000236565 OTTHUMG00000017031 NG_005585 PGOHUM00000258709 HGNC:39774 +HGNC:48495 HNRNPA3P6 heterogeneous nuclear ribonucleoprotein A3 pseudogene 6 pseudogene pseudogene Approved 3p12.3 03p12.3 2013-05-15 2013-05-15 653115 ENSG00000213300 OTTHUMG00000158819 NG_005586 PGOHUM00000259857 HGNC:48495 +HGNC:48496 HNRNPA3P7 heterogeneous nuclear ribonucleoprotein A3 pseudogene 7 pseudogene pseudogene Approved 5q33.2 05q33.2 2013-05-15 2013-05-15 100421357 ENSG00000253119 OTTHUMG00000163603 NG_024635 PGOHUM00000235430 HGNC:48496 +HGNC:48497 HNRNPA3P8 heterogeneous nuclear ribonucleoprotein A3 pseudogene 8 pseudogene pseudogene Approved 3p12.2 03p12.2 2013-05-15 2013-05-15 100129557 ENSG00000239699 OTTHUMG00000158931 NG_029271 PGOHUM00000238084 HGNC:48497 +HGNC:48755 HNRNPA3P9 heterogeneous nuclear ribonucleoprotein A3 pseudogene 9 pseudogene pseudogene Approved 11p13 11p13 2013-06-13 2016-11-09 100421415 ENSG00000270903 OTTHUMG00000184829 NG_024325 PGOHUM00000290429 HGNC:48755 +HGNC:48756 HNRNPA3P10 heterogeneous nuclear ribonucleoprotein A3 pseudogene 10 pseudogene pseudogene Approved 12q13.13 12q13.13 2013-06-13 2017-03-22 100421413 ENSG00000257851 OTTHUMG00000169491 NG_021180 PGOHUM00000291338 HGNC:48756 +HGNC:48757 HNRNPA3P11 heterogeneous nuclear ribonucleoprotein A3 pseudogene 11 pseudogene pseudogene Approved 15q21.3 15q21.3 2013-06-13 2013-06-13 100421431 ENSG00000260689 OTTHUMG00000172640 NG_025320 PGOHUM00000258860 HGNC:48757 +HGNC:48758 HNRNPA3P12 heterogeneous nuclear ribonucleoprotein A3 pseudogene 12 pseudogene pseudogene Approved 1p32.3 01p32.3 2013-06-13 2013-06-13 100421395 ENSG00000219102 OTTHUMG00000008438 NG_026941 PGOHUM00000259464 HGNC:48758 +HGNC:48759 HNRNPA3P13 heterogeneous nuclear ribonucleoprotein A3 pseudogene 13 pseudogene pseudogene Approved 4q21.22 04q21.22 2013-06-13 2013-06-13 441026 ENSG00000250826 OTTHUMG00000160947 NG_005584 PGOHUM00000259943 HGNC:48759 +HGNC:48760 HNRNPA3P14 heterogeneous nuclear ribonucleoprotein A3 pseudogene 14 pseudogene pseudogene Approved 1p31.1 01p31.1 2013-06-13 2013-06-13 729817 ENSG00000224494 OTTHUMG00000009838 NG_022787 PGOHUM00000264167 HGNC:48760 +HGNC:48761 HNRNPA3P15 heterogeneous nuclear ribonucleoprotein A3 pseudogene 15 pseudogene pseudogene Approved 2q33.1 02q33.1 2013-06-13 2013-06-13 106480234 ENSG00000225636 OTTHUMG00000154408 NG_045093 PGOHUM00000264285 HGNC:48761 +HGNC:48762 HNRNPA3P16 heterogeneous nuclear ribonucleoprotein A3 pseudogene 16 pseudogene pseudogene Approved 18q21.2 18q21.2 2013-06-13 2013-06-13 100421451 ENSG00000267233 OTTHUMG00000180040 NG_026331 PGOHUM00000259282 HGNC:48762 +HGNC:5034 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "ABBP1|FLJ40338" HNRPAB "RNA binding motif containing|Spliceosomal A complex|Heterogeneous nuclear ribonucleoproteins" "725|1504|1950" 1994-08-29 2008-04-18 2014-11-19 3182 ENSG00000197451 OTTHUMG00000163452 uc003miu.4 "AK097657|BC036708" NM_004499 "CCDS34309|CCDS34310" Q99729 1717314 MGI:1330294 RGD:69255 602688 HGNC:5034 "ENST00000358344.8|NM_031266.3" +HGNC:48744 HNRNPABP1 heterogeneous nuclear ribonucleoprotein A/B pseudogene 1 pseudogene pseudogene Approved 12p13.2 12p13.2 2013-06-12 2013-06-12 390294 ENSG00000255734 OTTHUMG00000168406 NG_021704 PGOHUM00000239668 HGNC:48744 +HGNC:5035 HNRNPC heterogeneous nuclear ribonucleoprotein C protein-coding gene gene with protein product Approved 14q11.2 14q11.2 HNRPC heterogeneous nuclear ribonucleoprotein C (C1/C2) "RNA binding motif containing|Spliceosomal C complex|Spliceosomal P complex|Heterogeneous nuclear ribonucleoproteins" "725|1510|1516|1950" 1997-08-28 2007-08-16 2019-07-03 2020-05-04 3183 ENSG00000092199 OTTHUMG00000170757 uc058zad.1 NM_001077442 "CCDS41915|CCDS45079" P07910 3457372 MGI:107795 RGD:1309982 164020 HGNC:5035 "ENST00000553300.6|NM_004500.4" +HGNC:29295 HNRNPCL1 heterogeneous nuclear ribonucleoprotein C like 1 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 HNRPCL1 RNA binding motif containing 725 2005-05-13 2008-04-18 2019-02-18 2019-02-18 343069 ENSG00000179172 OTTHUMG00000001931 uc057cki.1 BC002696 NM_001013631 CCDS30591 O60812 MGI:107795 HGNC:29295 "ENST00000317869.7|NM_001013631.3" +HGNC:48813 HNRNPCL2 heterogeneous nuclear ribonucleoprotein C like 2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 HNRNPCP5 heterogeneous nuclear ribonucleoprotein C pseudogene 5 2013-06-13 2014-05-27 2019-02-18 2019-02-18 440563 ENSG00000275774 OTTHUMG00000009503 NM_001136561 CCDS76105 B2RXH8 MGI:107795 HGNC:48813 "ENST00000621994.3|NM_001136561.3" +HGNC:51235 HNRNPCL3 heterogeneous nuclear ribonucleoprotein C like 3 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 2014-10-08 2019-02-18 2019-02-18 649330 ENSG00000277058 OTTHUMG00000189236 NM_001382358 CCDS72705 B7ZW38 MGI:107795 HGNC:51235 "ENST00000617807.3|NM_001382358.1" +HGNC:51333 HNRNPCL4 heterogeneous nuclear ribonucleoprotein C like 4 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 2014-10-08 2019-02-18 2019-02-18 101060301 ENSG00000179412 OTTHUMG00000189238 NM_001302551 CCDS76107 P0DMR1 HGNC:51333 "ENST00000323770.8|NM_001302551.2" +HGNC:20017 HNRNPCP1 heterogeneous nuclear ribonucleoprotein C pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 HNRPCP heterogeneous nuclear ribonucleoprotein C pseudogene 2003-01-13 2013-06-12 2013-06-12 2014-11-19 319133 ENSG00000258900 OTTHUMG00000171161 NG_002511 PGOHUM00000261852 HGNC:20017 +HGNC:48814 HNRNPCP2 heterogeneous nuclear ribonucleoprotein C pseudogene 2 pseudogene pseudogene Approved 2q32.2 02q32.2 2013-06-13 2014-02-12 653447 ENSG00000204253 OTTHUMG00000154452 NG_006653 PGOHUM00000241046 HGNC:48814 +HGNC:48815 HNRNPCP3 heterogeneous nuclear ribonucleoprotein C pseudogene 3 pseudogene pseudogene Approved 15q25.1 15q25.1 2013-06-13 2013-06-13 646956 ENSG00000259419 OTTHUMG00000172070 NG_022134 PGOHUM00000261871 HGNC:48815 +HGNC:48816 HNRNPCP4 heterogeneous nuclear ribonucleoprotein C pseudogene 4 pseudogene pseudogene Approved 16p13.13 16p13.13 2013-06-13 2013-06-13 100421828 ENSG00000263179 OTTHUMG00000177408 NG_026395 PGOHUM00000248983 HGNC:48816 +HGNC:48817 HNRNPCP6 heterogeneous nuclear ribonucleoprotein C pseudogene 6 pseudogene pseudogene Approved 11q14.1 11q14.1 2013-06-13 2013-06-13 100421794 ENSG00000213305 OTTHUMG00000167152 NG_021375 PGOHUM00000261834 HGNC:48817 +HGNC:48818 HNRNPCP7 heterogeneous nuclear ribonucleoprotein C pseudogene 7 pseudogene pseudogene Approved 7q11.21 07q11.21 2013-06-13 2013-06-13 100127907 ENSG00000228653 OTTHUMG00000156253 NG_012728 PGOHUM00000261937 HGNC:48818 +HGNC:48819 HNRNPCP8 heterogeneous nuclear ribonucleoprotein C pseudogene 8 pseudogene pseudogene Approved 11q14.2 11q14.2 2013-06-13 2013-06-13 100131842 ENSG00000254748 OTTHUMG00000167234 NG_021828 PGOHUM00000261837 HGNC:48819 +HGNC:48820 HNRNPCP9 heterogeneous nuclear ribonucleoprotein C pseudogene 9 pseudogene pseudogene Approved 1p31.3 01p31.3 2013-06-13 2013-06-13 100130196 ENSG00000232048 OTTHUMG00000009543 PGOHUM00000261891 HGNC:48820 +HGNC:48821 HNRNPCP10 heterogeneous nuclear ribonucleoprotein C pseudogene 10 pseudogene pseudogene Approved Xq27.3 Xq27.3 2013-06-13 2013-06-13 100129229 ENSG00000215054 OTTHUMG00000022590 NG_030279 PGOHUM00000261948 HGNC:48821 +HGNC:5036 HNRNPD heterogeneous nuclear ribonucleoprotein D protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "AUF1|HNRPD" "heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)|AU-rich element RNA binding protein 1, 37kDa" "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1997-10-30 2008-04-18 2015-11-09 2016-10-05 3184 ENSG00000138668 OTTHUMG00000130290 uc003hmm.2 AF026126 NM_031370 "CCDS3590|CCDS3591|CCDS3592" Q14103 9615222 MGI:101947 RGD:620365 601324 HGNC:5036 "ENST00000313899.12|NM_031370.3" +HGNC:55205 HNRNPD-DT HNRNPD divergent transcript non-coding RNA RNA, long non-coding Approved 4q21.22 04q21.22 Divergent transcripts 1990 2020-08-21 2020-08-21 101928963 ENSG00000272677 XR_244663 +HGNC:5037 HNRNPDL heterogeneous nuclear ribonucleoprotein D like protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "JKTBP|laAUF1" "HNRPDL|LGMD1G" limb girdle muscular dystrophy 1G (autosomal dominant) "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1998-09-25 2013-06-12 2015-11-09 2021-05-26 9987 ENSG00000152795 OTTHUMG00000130299 D89092 NM_005463 "CCDS75153|CCDS3593" O14979 "10072754|9524220|24647604" MGI:1355299 RGD:1309950 607137 410515 HGNC:5037 "ENST00000295470.10|NM_031372.4" HGNC:5037 +HGNC:48752 HNRNPDLP1 HNRNPDL pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 heterogeneous nuclear ribonucleoprotein D-like pseudogene 1 2013-06-13 2019-02-18 2019-02-18 100128595 ENSG00000226307 OTTHUMG00000021982 NG_022680 PGOHUM00000241897 HGNC:48752 +HGNC:48753 HNRNPDLP2 HNRNPDL pseudogene 2 pseudogene pseudogene Approved 2q24.1 02q24.1 heterogeneous nuclear ribonucleoprotein D-like pseudogene 2 2013-06-13 2019-02-18 2019-02-18 100128061 ENSG00000234890 OTTHUMG00000153974 NG_021589 PGOHUM00000240995 HGNC:48753 +HGNC:48754 HNRNPDLP3 HNRNPDL pseudogene 3 pseudogene pseudogene Approved Xq21.33 Xq21.33 heterogeneous nuclear ribonucleoprotein D-like pseudogene 3 2013-06-13 2019-02-18 2019-02-18 106481662 ENSG00000236185 OTTHUMG00000154905 NG_044926 PGOHUM00000241896 HGNC:48754 +HGNC:48808 HNRNPDLP4 HNRNPDL pseudogene 4 pseudogene pseudogene Approved 19q13.43 19q13.43 heterogeneous nuclear ribonucleoprotein D-like pseudogene 4 2013-06-13 2019-02-18 2019-02-18 100421657 ENSG00000270837 OTTHUMG00000184915 NG_024209 PGOHUM00000295153 HGNC:48808 +HGNC:48809 HNRNPDLP5 HNRNPDL pseudogene 5 pseudogene pseudogene Approved Xp22.2 Xp22.2 heterogeneous nuclear ribonucleoprotein D-like pseudogene 5 2013-06-13 2019-02-18 2020-04-06 112351742 NG_066021 PGOHUM00000241649 HGNC:48809 +HGNC:5038 HNRNPDP1 heterogeneous nuclear ribonucleoprotein D pseudogene 1 pseudogene pseudogene Approved Xq11.2 Xq11.2 "AUF1B|AUF1P" "HNRPDP|HNRNPDP" "heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD) pseudogene|heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene|heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 1" 1999-02-04 2013-06-12 2015-11-10 2015-11-10 8251 ENSG00000232794 OTTHUMG00000021702 NG_000874 8661052 PGOHUM00000241809 HGNC:5038 +HGNC:48749 HNRNPDP2 heterogeneous nuclear ribonucleoprotein D pseudogene 2 pseudogene pseudogene Approved 6q12 06q12 heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 2 2013-06-13 2015-11-10 2015-11-10 106481661 ENSG00000217811 OTTHUMG00000014959 NG_046039 PGOHUM00000243232 HGNC:48749 +HGNC:5039 HNRNPF heterogeneous nuclear ribonucleoprotein F protein-coding gene gene with protein product Approved 10q11.21 10q11.21 HNRPF "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1997-08-28 2008-04-18 2015-09-08 3185 ENSG00000169813 OTTHUMG00000018029 uc001jat.3 NM_001098204 CCDS7204 P52597 7499401 MGI:2138741 RGD:620366 601037 HGNC:5039 "ENST00000682386.1|NM_001098204.2" +HGNC:48812 HNRNPFP1 heterogeneous nuclear ribonucleoprotein F pseudogene 1 pseudogene pseudogene Approved 1p34.2 01p34.2 2013-06-13 2013-06-13 644449 ENSG00000227538 OTTHUMG00000006363 NG_006068 PGOHUM00000244689 HGNC:48812 +HGNC:5041 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 hnRNPH HNRPH1 heterogeneous nuclear ribonucleoprotein H1 (H) "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1997-08-28 2008-04-18 2017-01-12 2017-01-12 3187 ENSG00000169045 OTTHUMG00000130908 uc003mkh.5 BC001348 NM_005520 "CCDS4446|CCDS87357" P31943 7499401 MGI:1891925 RGD:620840 601035 358708 HGNC:5041 +HGNC:48751 HNRNPH1P1 heterogeneous nuclear ribonucleoprotein H1 pseudogene 1 pseudogene pseudogene Approved 6q25.3 06q25.3 2013-06-13 2013-06-13 100132803 ENSG00000220305 OTTHUMG00000015938 NG_008729 PGOHUM00000257147 HGNC:48751 +HGNC:48810 HNRNPH1P2 heterogeneous nuclear ribonucleoprotein H1 pseudogene 2 pseudogene pseudogene Approved Xq27.3 Xq27.3 2013-06-13 2013-06-13 100129368 ENSG00000213924 OTTHUMG00000022581 NG_028793 PGOHUM00000241585 HGNC:48810 +HGNC:48811 HNRNPH1P3 heterogeneous nuclear ribonucleoprotein H1 pseudogene 3 pseudogene pseudogene Approved 5q11.2 05q11.2 2013-06-13 2013-06-13 402216 ENSG00000248854 OTTHUMG00000162319 NG_021850 PGOHUM00000235226 HGNC:48811 +HGNC:5042 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "hnRNPH'|FTP3|HNRPH'" HNRPH2 heterogeneous nuclear ribonucleoprotein H2 (H') "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1997-08-28 2008-04-18 2017-01-12 2021-05-26 3188 ENSG00000126945 OTTHUMG00000022029 uc004ehm.4 U01923 NM_019597 CCDS14485 P55795 7499401 MGI:1201779 RGD:1549784 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HNRNPH2 300610 HGNC:5042 "ENST00000316594.6|NM_019597.5" HGNC:5042 +HGNC:5043 HNRNPH3 heterogeneous nuclear ribonucleoprotein H3 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 2H9 heterogeneous nuclear ribonucleoprotein 2H9 HNRPH3 heterogeneous nuclear ribonucleoprotein H3 (2H9) "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1998-02-11 2008-04-18 2016-02-01 2016-10-05 3189 ENSG00000096746 OTTHUMG00000018349 uc001jnw.5 NM_001322434 "CCDS7279|CCDS7278" P31942 8999868 MGI:1926462 RGD:1310019 602324 HGNC:5043 "ENST00000265866.12|NM_012207.3" +HGNC:48750 HNRNPH3P1 heterogeneous nuclear ribonucleoprotein H3 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-06-13 2013-06-13 106480233 ENSG00000230247 OTTHUMG00000021904 NG_043755 PGOHUM00000241869 HGNC:48750 +HGNC:5044 HNRNPK heterogeneous nuclear ribonucleoprotein K protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "CSBP|TUNP" transformation upregulated nuclear protein HNRPK "MicroRNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins" "1691|1950" 1994-12-15 2008-04-18 2021-05-26 3190 ENSG00000165119 OTTHUMG00000020107 uc004anl.5 NM_001318186 "CCDS6668|CCDS6667" P61978 8107114 MGI:99894 RGD:71058 600712 457585 HGNC:5044 "ENST00000376263.8|NM_031263.4" HGNC:5044 +HGNC:56061 HNRNPK-AS1 HNRNPK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.32 09q21.32 Antisense RNAs 1987 2021-12-10 2021-12-10 123706516 ENSG00000235298 +HGNC:42374 HNRNPKP1 heterogeneous nuclear ribonucleoprotein K pseudogene 1 pseudogene pseudogene Approved 5q23.2 05q23.2 2011-07-05 2014-11-19 389322 ENSG00000250859 OTTHUMG00000163051 NG_021862 PGOHUM00000235390 HGNC:42374 +HGNC:42375 HNRNPKP2 heterogeneous nuclear ribonucleoprotein K pseudogene 2 pseudogene pseudogene Approved 2q22.1 02q22.1 2011-07-05 2014-11-19 389053 ENSG00000227347 OTTHUMG00000153576 NG_021524 PGOHUM00000240356 HGNC:42375 +HGNC:42376 HNRNPKP3 heterogeneous nuclear ribonucleoprotein K pseudogene 3 pseudogene pseudogene Approved 11p12 11p12 2011-07-05 2014-11-19 399881 ENSG00000251557 NR_033868 PGOHUM00000242216 HGNC:42376 +HGNC:42377 HNRNPKP4 heterogeneous nuclear ribonucleoprotein K pseudogene 4 pseudogene pseudogene Approved 3q11.2 03q11.2 2011-07-05 2014-11-18 644063 ENSG00000243547 OTTHUMG00000159028 NG_022255 PGOHUM00000238098 HGNC:42377 +HGNC:42378 HNRNPKP5 heterogeneous nuclear ribonucleoprotein K pseudogene 5 pseudogene pseudogene Approved 5p15.2 05p15.2 2011-07-05 2014-11-18 100874385 ENSG00000250662 OTTHUMG00000161816 NG_032511 PGOHUM00000235129 HGNC:42378 +HGNC:5045 HNRNPL heterogeneous nuclear ribonucleoprotein L protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HNRPL "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1998-04-22 2007-08-16 2015-08-25 3191 ENSG00000104824 OTTHUMG00000182612 uc060yfy.1 X16135 NM_001005335 "CCDS33016|CCDS33015" P14866 2687284 MGI:104816 RGD:71059 603083 HGNC:5045 "ENST00000221419.10|NM_001533.3" +HGNC:25127 HNRNPLL heterogeneous nuclear ribonucleoprotein L like protein-coding gene gene with protein product Approved 2p22.1 02p22.1 HNRPLL "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2004-11-30 2013-06-12 2016-01-12 2016-10-05 92906 ENSG00000143889 OTTHUMG00000102075 BC008217 NM_138394 "CCDS1796|CCDS46261" Q8WVV9 18669861 MGI:1919942 RGD:1305861 611208 HGNC:25127 "ENST00000449105.8|NM_138394.4" +HGNC:48748 HNRNPLP1 heterogeneous nuclear ribonucleoprotein L pseudogene 1 pseudogene pseudogene Approved 6p24.3 06p24.3 2013-06-12 2013-06-12 442157 ENSG00000233503 OTTHUMG00000014208 NG_022293 PGOHUM00000263832 HGNC:48748 +HGNC:48747 HNRNPLP2 heterogeneous nuclear ribonucleoprotein L pseudogene 2 pseudogene pseudogene Approved 15q14 15q14 2013-06-13 2013-06-13 644390 ENSG00000259917 OTTHUMG00000173388 NG_029295 PGOHUM00000258852 HGNC:48747 +HGNC:5046 HNRNPM heterogeneous nuclear ribonucleoprotein M protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HTGR1|HNRNPM4|HNRPM4|CEAR" CEA receptor "NAGR1|HNRPM" "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2000-06-26 2008-04-18 2014-11-19 4670 ENSG00000099783 OTTHUMG00000182383 uc010dwe.4 L03532 NM_001297418 "CCDS12203|CCDS12204" P52272 "8441656|7558047" MGI:1926465 RGD:620369 160994 HGNC:5046 "ENST00000325495.9|NM_005968.5" +HGNC:48745 HNRNPMP1 heterogeneous nuclear ribonucleoprotein M pseudogene 1 pseudogene pseudogene Approved 15q15.3 15q15.3 2013-06-12 2013-06-12 645204 ENSG00000259335 OTTHUMG00000171870 NG_022108 PGOHUM00000246772 HGNC:48745 +HGNC:48746 HNRNPMP2 heterogeneous nuclear ribonucleoprotein M pseudogene 2 pseudogene pseudogene Approved 19q13.32 19q13.32 2013-06-12 2013-06-12 390948 ENSG00000269576 OTTHUMG00000183435 NG_021765 PGOHUM00000234727 HGNC:48746 +HGNC:5047 HNRNPR heterogeneous nuclear ribonucleoprotein R protein-coding gene gene with protein product Approved 1p36.12 01p36.12 hnRNP-R HNRPR "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 1999-06-11 2007-08-16 2021-05-26 10236 ENSG00000125944 OTTHUMG00000003224 uc057dey.1 AF000364 NM_005826 "CCDS44085|CCDS60020|CCDS72727|CCDS232|CCDS72726" O43390 9421497 MGI:1891692 RGD:631348 607201 HGNC:5047 "ENST00000302271.11|NM_005826.5" HGNC:5047 +HGNC:44907 HNRNPRP1 heterogeneous nuclear ribonucleoprotein R pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p12.31 2012-12-18 2012-12-18 100125387 ENSG00000223984 OTTHUMG00000017798 NG_006899 PGOHUM00000251234 HGNC:44907 +HGNC:44908 HNRNPRP2 heterogeneous nuclear ribonucleoprotein R pseudogene 2 pseudogene pseudogene Approved 11p14.1 11p14.1 2012-12-18 2012-12-18 100421354 ENSG00000255047 OTTHUMG00000166153 NG_024324 PGOHUM00000242200 HGNC:44908 +HGNC:44909 HNRNPRP3 heterogeneous nuclear ribonucleoprotein R pseudogene 3 pseudogene pseudogene Approved 4p14 04p14 2012-12-18 2012-12-18 100421323 NG_025201 PGOHUM00000245880 HGNC:44909 +HGNC:5048 HNRNPU heterogeneous nuclear ribonucleoprotein U protein-coding gene gene with protein product Approved 1q44 01q44 "SAF-A|FLJ37978|FLJ30202" scaffold attachment factor A "HNRPU|HNRNPU-AS1|C1orf199|NCRNA00201" "HNRNPU antisense RNA 1|chromosome 1 open reading frame 199|non-protein coding RNA 201|HNRNPU antisense RNA 1 (non-protein coding)|heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)" Heterogeneous nuclear ribonucleoproteins 1950 1997-08-28 2007-08-16 2016-06-03 2021-05-26 3192 ENSG00000153187 OTTHUMG00000040396 uc001iba.2 X65488 NM_031844 "CCDS41479|CCDS31081" Q00839 "7509195|8068679" MGI:1858195 RGD:620372 602869 470462 HGNC:5048 "ENST00000640218.2|NM_031844.3" HGNC:5048 +HGNC:17011 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "E1B-AP5|E1BAP5|FLJ12944" E1B 55kDa associated protein 5 HNRPUL1 2004-03-11 2008-04-18 2016-04-26 2016-04-26 11100 ENSG00000105323 OTTHUMG00000182740 uc002oqb.5 AJ007509 "NM_144732|NM_007040" "CCDS82351|CCDS12577|CCDS12576" Q9BUJ2 "9733834|12489984|23577092" MGI:2443517 RGD:1307456 605800 HGNC:17011 "ENST00000392006.8|NM_007040.6" +HGNC:25451 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 DKFZp762N1910 HNRPUL2 heterogeneous nuclear ribonucleoprotein U-like 2 2005-09-29 2008-04-18 2016-06-10 2018-11-16 221092 ENSG00000214753 OTTHUMG00000167773 uc001nuw.4 NM_001079559 CCDS41659 Q1KMD3 MGI:1915943 RGD:1562784 HGNC:25451 "ENST00000301785.7|NM_001079559.3" +HGNC:49189 HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) other readthrough Approved 11q12.3 11q12.3 2013-09-25 2014-10-06 2014-10-06 100534595 ENSG00000234857 OTTHUMG00000167772 NR_037946 HGNC:49189 +HGNC:19931 HNRNPUP1 heterogeneous nuclear ribonucleoprotein U pseudogene 1 pseudogene pseudogene Approved 14q21.2 14q21.2 HNRPUP heterogeneous nuclear ribonucleoprotein U pseudogene 2003-01-13 2013-06-12 2013-06-12 2014-11-18 319134 ENSG00000259051 OTTHUMG00000170706 NG_002512 PGOHUM00000248152 HGNC:19931 +HGNC:25061 HOATZ HOATZ cilia and flagella associated protein protein-coding gene gene with protein product Approved 11q23.1 11q23.1 FLJ46266 hypothetical gene supported by BC039505 C11orf88 chromosome 11 open reading frame 88 2008-07-22 2020-05-14 2020-05-14 2020-05-14 399949 ENSG00000183644 OTTHUMG00000166720 uc009yyd.3 "BC039505|AK128145" NM_001100388 "CCDS41712|CCDS41713" Q6PI97 32248064 MGI:1921013 RGD:2323814 HGNC:25061 "ENST00000375618.9|NM_001100388.2" +HGNC:25155 HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "FLJ37472|DHDPS2|NPL2" "dihydrodipicolinate synthetase homolog 2 (E. coli)|N-acetylneuraminate pyruvate lyase 2 (putative)" "C10orf65|DHDPSL" "chromosome 10 open reading frame 65|dihydrodipicolinate synthase-like, mitochondrial" 2004-05-27 2010-12-19 2010-12-19 2021-05-26 112817 ENSG00000241935 OTTHUMG00000018859 uc001kny.4 BC011916 NM_138413 "CCDS7467|CCDS44469" Q86XE5 20797690 MGI:1914682 RGD:1310475 613597 242313 HGNC:25155 "ENST00000370646.9|NM_138413.4" HGNC:25155 +HGNC:17512 HOMER1 homer scaffold protein 1 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "Ves-1|SYN47|HOMER-1B" "homer homolog 1 (Drosophila)|homer scaffolding protein 1" Homer scaffold proteins 871 2003-01-28 2018-03-01 2018-03-01 9456 ENSG00000152413 OTTHUMG00000134278 uc003kfy.5 BC015502 NM_004272 "CCDS64188|CCDS64189|CCDS43335" Q86YM7 "9808459|9808458" MGI:1347345 RGD:628725 604798 HGNC:17512 "ENST00000334082.11|NM_004272.5" +HGNC:17513 HOMER2 homer scaffold protein 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "CPD|Cupidin|Vesl-2|HOMER-2B|HOMER-2|HOMER-2A|DFNA68" "homer homolog 2 (Drosophila)|homer scaffolding protein 2" Homer scaffold proteins 871 2003-01-28 2018-03-01 2021-05-26 9455 ENSG00000103942 OTTHUMG00000172462 uc002bjg.4 AF093264 NM_004839 "CCDS45336|CCDS45334" Q9NSB8 "9808459|9808458|25816005" MGI:1347354 RGD:620705 604799 445129 HGNC:17513 "ENST00000450735.7|NM_004839.4" HGNC:17513 +HGNC:20336 HOMER2P1 HOMER2 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 "homer homolog 2 pseudogene 1 (Drosophila)|homer scaffolding protein 2 pseudogene 1" 2003-01-24 2018-03-01 2018-03-01 317768 ENSG00000228966 OTTHUMG00000152103 NG_027315 PGOHUM00000247955 HGNC:20336 +HGNC:20334 HOMER2P2 HOMER2 pseudogene 2 pseudogene pseudogene Approved 14q32.33 14q32.33 "homer homolog 2 pseudogene 2 (Drosophila)|homer scaffolding protein 2 pseudogene 2" 2003-01-24 2018-03-01 2018-03-01 317769 ENSG00000238275 OTTHUMG00000152092 NG_001019 PGOHUM00000247933 HGNC:20334 +HGNC:17514 HOMER3 homer scaffold protein 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 HOMER-3 "homer homolog 3 (Drosophila)|homer scaffolding protein 3" Homer scaffold proteins 871 2003-01-28 2018-03-01 2018-03-01 9454 ENSG00000051128 OTTHUMG00000182995 uc002nkv.3 Y18894 NM_001145721 "CCDS46022|CCDS46023|CCDS12391" Q9NSC5 "10653696|9808459" MGI:1347359 RGD:620706 604800 HGNC:17514 "ENST00000392351.8|NM_004838.4" +HGNC:53775 HOMER3-AS1 HOMER3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 Antisense RNAs 1987 2017-11-03 2017-11-03 102724360 ENSG00000269019 OTTHUMG00000182996 NR_134912 HGNC:53775 +HGNC:20164 HOMEZ homeobox and leucine zipper encoding protein-coding gene gene with protein product Approved 14q11.2 14q11.2 KIAA1443 KIAA1443 ZF class homeoboxes and pseudogenes 529 2003-11-21 2007-02-15 2007-02-15 2020-03-31 57594 ENSG00000215271 OTTHUMG00000172122 uc001wja.3 AB037864 NM_020834 CCDS45085 Q8IX15 12925734 MGI:2678023 RGD:628904 608119 8582 HGNC:20164 "ENST00000357460.7|NM_020834.3" +HGNC:19884 HOOK1 hook microtubule tethering protein 1 protein-coding gene gene with protein product Approved 1p32.1 01p32.1 HK1 hook homolog 1 (Drosophila) FHF complex 2012 2003-11-25 2016-07-14 2019-08-22 51361 ENSG00000134709 OTTHUMG00000008990 uc001czo.3 AF044923 NM_015888 CCDS612 Q9UJC3 9927460 MGI:1925213 RGD:1309987 607820 HGNC:19884 "ENST00000371208.5|NM_015888.6" +HGNC:19885 HOOK2 hook microtubule tethering protein 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 HK2 hook homolog 2 (Drosophila) FHF complex 2012 2003-11-25 2016-07-14 2019-08-22 29911 ENSG00000095066 OTTHUMG00000180372 uc002muz.3 AF044924 NM_013312 "CCDS42507|CCDS42508" Q96ED9 9927460 MGI:2181664 RGD:1310171 607824 HGNC:19885 "ENST00000397668.8|NM_013312.3" +HGNC:23576 HOOK3 hook microtubule tethering protein 3 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 HK3 hook homolog 3 (Drosophila) FHF complex 2012 2003-11-25 2016-07-14 2019-08-22 84376 ENSG00000168172 OTTHUMG00000165278 uc003xpr.4 AK090540 NM_032410 CCDS6139 Q86VS8 "9927460|17237231" MGI:2443554 RGD:1560960 HOOK3 607825 HGNC:23576 "ENST00000307602.9|NM_032410.4" +HGNC:24961 HOPX HOP homeobox protein-coding gene gene with protein product Approved 4q12 04q12 "LAGY|HOP|OB1|NECC1|SMAP31" homeobox only domain PRD class homeoboxes and pseudogenes 521 2007-08-20 2014-11-19 84525 ENSG00000171476 OTTHUMG00000128768 uc003hcb.3 NM_001145459 "CCDS47062|CCDS3507|CCDS54767" Q9BPY8 12297045 MGI:1916782 RGD:621841 607275 8583 HGNC:24961 "ENST00000420433.6|NM_032495.6" +HGNC:25245 HORMAD1 HORMA domain containing 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "DKFZP434A1315|CT46" cancer/testis antigen 46 2005-01-04 2016-10-05 84072 ENSG00000143452 OTTHUMG00000035005 uc001evk.3 AL136755 NM_032132 "CCDS55633|CCDS967" Q86X24 "11230166|15999985" MGI:1915231 RGD:1564960 609824 HGNC:25245 "ENST00000361824.7|NM_032132.5" HGNC:25245 +HGNC:28383 HORMAD2 HORMA domain containing 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "MGC26710|CT46.2" 2005-01-04 2019-02-21 150280 ENSG00000176635 OTTHUMG00000150881 uc003agy.4 AK098703 NM_152510 CCDS46683 Q8N7B1 23039116 MGI:1923078 RGD:1565447 618842 HGNC:28383 "ENST00000336726.11|NM_152510.4" +HGNC:50729 HORMAD2-AS1 HORMAD2 and MTMR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 "MTMR3-AS1|NONHSAG033653" HORMAD2 antisense RNA 1 Antisense RNAs 1987 2014-06-13 2017-06-01 2017-06-01 101929664 ENSG00000227117 OTTHUMG00000151289 NR_110541 25144376 HORMAD2-AS1 HGNC:50729 +HGNC:33510 HOTAIR HOX transcript antisense RNA non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 "HOXC-AS4|HOXC11-AS1|NCRNA00072" "HOXC cluster antisense RNA 4 (non-protein coding)|non-protein coding RNA 72" HOX transcript antisense RNA (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2008-06-04 2012-08-15 2022-04-01 100124700 ENSG00000228630 OTTHUMG00000152934 uc009zne.5 DQ926657 NR_003716 "17604720|17604716" MGI:3826586 611400 HOTAIR HOTAIR HGNC:33510 +HGNC:37117 HOTAIRM1 HOXA transcript antisense RNA, myeloid-specific 1 non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 "HOXA-AS1|NCRNA00179|HOXA1-AS1" "HOXA cluster antisense RNA 1 (non-protein coding)|non-protein coding RNA 179" "hox transcript antisense RNA, myeloid-specific 1 (non-protein coding)|HOXA transcript antisense RNA, myeloid-specific 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2009-06-23 2012-08-15 2020-04-20 100506311 ENSG00000233429 OTTHUMG00000158089 uc003syg.4 NR_038366 19144990 MGI:3705155 RGD:7716070 HOTAIRM1 HOTAIRM1 HGNC:37117 +HGNC:37461 HOTTIP HOXA distal transcript antisense RNA non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 "HOXA-AS6|RP1-170O19.3|HOXA13-AS1" "HOXA cluster antisense RNA 6 (non-protein coding)|HOXA transcript at the distal tip|HOXA13 antisense RNA 1 (non-protein coding)" NCRNA00213 "non-protein coding RNA 213|HOXA distal transcript antisense RNA (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2009-10-16 2011-04-21 2012-08-15 2014-11-19 100316868 ENSG00000243766 OTTHUMG00000063751 uc064chw.1 GU724873 NR_037843 "21483457|21423168|24381249" MGI:3642509 614060 HOTTIP HOTTIP HGNC:37461 +HGNC:43745 HOXA-AS2 HOXA cluster antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 HOXA3as HOXA cluster antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-02-18 2012-08-15 2014-10-22 285943 ENSG00000253552 OTTHUMG00000063274 uc064cfs.1 BC035889 NR_122069 23649634 616068 HOXA3as HOXA-AS2 HGNC:43745 +HGNC:43748 HOXA-AS3 HOXA cluster antisense RNA 3 non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 HOXA6as HOXA cluster antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2012-02-18 2012-08-15 2017-09-21 100133311 ENSG00000254369 OTTHUMG00000158092 uc064cgo.1 AK091933 NR_038831 28881797 MGI:1919878 618706 HOXA6as HOXA-AS3 HGNC:43748 +HGNC:5098 HOXA@ homeobox A cluster other region Approved 7p15.2 07p15.2 HOX1@ homeo box A cluster 1986-01-01 2005-12-22 2011-06-01 3197 "1973146|1358459" +HGNC:5099 HOXA1 homeobox A1 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "HOX1F|HOX1" homeo box A1 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2021-05-26 3198 ENSG00000105991 OTTHUMG00000023207 uc003sye.4 NM_005522 "CCDS5402|CCDS5401" P49639 1973146 MGI:96170 RGD:11414885 142955 8584 123364 HGNC:5099 "ENST00000643460.2|NM_005522.5" HGNC:5099 +HGNC:5103 HOXA2 homeobox A2 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 HOX1K homeo box A2 HOXL subclass homeoboxes 518 1993-02-18 2005-12-22 2021-05-26 3199 ENSG00000105996 OTTHUMG00000023208 uc003syh.4 NM_006735 CCDS5403 O43364 1358459 MGI:96174 RGD:11468112 604685 8545 159716 HGNC:5103 "ENST00000222718.7|NM_006735.4" HGNC:5103 +HGNC:5104 HOXA3 homeobox A3 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "HOX1E|HOX1" homeo box A3 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3200 ENSG00000105997 OTTHUMG00000023209 uc064cfr.1 NM_001384335 CCDS5404 O43365 "1973146|1358459" MGI:96175 RGD:1561431 142954 8588 HGNC:5104 "ENST00000612286.5|NM_153631.3" +HGNC:5105 HOXA4 homeobox A4 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "HOX1D|HOX1" homeo box A4 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2014-11-19 3201 ENSG00000197576 OTTHUMG00000023213 uc064cgf.1 NM_002141 CCDS5405 Q00056 "1973146|1358459" MGI:96176 RGD:2814 142953 8589 HGNC:5105 "ENST00000360046.10|NM_002141.5" +HGNC:5106 HOXA5 homeobox A5 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "HOX1C|HOX1" homeo box A5 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-09-07 3202 ENSG00000106004 OTTHUMG00000023214 uc003syn.2 NM_019102 CCDS5406 P20719 "1973146|1358459" MGI:96177 RGD:620609 142952 8590 HGNC:5106 "ENST00000222726.4|NM_019102.4" +HGNC:5107 HOXA6 homeobox A6 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "HOX1B|HOX1" homeo box A6 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3203 ENSG00000106006 OTTHUMG00000023216 uc003syo.3 NM_024014 CCDS5407 P31267 "1973146|1358459" MGI:96178 RGD:1590236 142951 8636 HGNC:5107 "ENST00000222728.3|NM_024014.4" +HGNC:5108 HOXA7 homeobox A7 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "HOX1A|HOX1" homeo box A7 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3204 ENSG00000122592 OTTHUMG00000023217 uc003sys.4 NM_006896 CCDS5408 P31268 "1973146|1358459" MGI:96179 RGD:1587253 142950 8637 HGNC:5108 "ENST00000242159.5|NM_006896.4" +HGNC:5109 HOXA9 homeobox A9 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "HOX1G|HOX1" homeo box A9 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2014-11-18 3205 ENSG00000078399 OTTHUMG00000023220 uc003syt.4 NM_152739 CCDS5409 P31269 "1973146|1358459" MGI:96180 RGD:1310001 HOXA9 142956 8638 HGNC:5109 "ENST00000343483.7|NM_152739.4" +HGNC:5100 HOXA10 homeobox A10 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "HOX1H|HOX1" homeo box A10 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3206 ENSG00000253293 OTTHUMG00000023436 uc011jzm.3 NM_018951 CCDS5410 P31260 "1973146|1358459" MGI:96171 RGD:9410935 142957 8585 HGNC:5100 "ENST00000283921.5|NM_018951.4" +HGNC:40281 HOXA10-AS HOXA10 antisense RNA non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 HOXA-AS4 "HOXA cluster antisense RNA 4 (non-protein coding)|HOXA cluster antisense RNA 4" Antisense RNAs 1987 2012-02-18 2014-01-09 2014-01-09 2014-11-19 100874323 ENSG00000253187 OTTHUMG00000158203 "AW195063|BM549446" NR_046609 HOXA10-AS HGNC:40281 +HGNC:5101 HOXA11 homeobox A11 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "HOX1I|HOX1" homeo box A11 HOXL subclass homeoboxes 518 1990-07-05 2005-12-22 2021-05-26 3207 ENSG00000005073 OTTHUMG00000023437 uc003syx.4 NM_005523 CCDS5411 P31270 "1973146|1358459" MGI:96172 RGD:1564605 LRG_561|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_561.xml HOXA11 142958 8586 123347 HGNC:5101 "ENST00000006015.4|NM_005523.6" HGNC:5101 +HGNC:24957 HOXA11-AS HOXA11 antisense RNA non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 "HOXA11-AS1|HOXA11S|HOXA-AS5|NCRNA00076" "non-protein coding RNA 76|HOXA cluster antisense RNA 5 (non-protein coding)|HOXA11 antisense RNA 1 (non-protein coding)" HOXA11AS "homeobox A11 antisense|HOXA11 antisense RNA (non-protein coding)" Antisense RNAs 1987 2008-06-20 2012-03-14 2012-08-15 2018-07-26 221883 ENSG00000240990 OTTHUMG00000158205 uc064chh.1 NR_002795 "9745033|12050232" MGI:107208 RGD:1564419 607530 Hoxa11as HOXA11-AS HGNC:24957 +HGNC:5102 HOXA13 homeobox A13 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "HOX1J|HOX1" homeo box A13 HOXL subclass homeoboxes 518 1990-07-05 2005-12-22 2021-05-26 3209 ENSG00000106031 OTTHUMG00000023438 uc003szb.2 NM_000522 CCDS5412 P31271 "1973146|1358459" MGI:96173 RGD:1562483 LRG_1349|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1349.xml HOXA13 142959 8587 122462 HGNC:5102 "ENST00000649031.1|NM_000522.5" HGNC:5102 +HGNC:43744 HOXB-AS1 HOXB cluster antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 HOXB cluster antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-18 2012-08-15 2018-06-15 100874362 ENSG00000230148 OTTHUMG00000132491 uc031rdb.2 "BF875734|BE676309|AI292043" NR_102279 29716997 618066 HGNC:43744 +HGNC:40284 HOXB-AS2 HOXB cluster antisense RNA 2 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 HOXB cluster antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-02-18 2012-08-15 2014-11-19 100874350 ENSG00000239552 OTTHUMG00000159921 uc060gvu.1 "DA447098|BF999536" NR_046610 HOXB-AS2 +HGNC:40283 HOXB-AS3 HOXB cluster antisense RNA 3 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 HOXB cluster antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2012-02-18 2012-02-22 2012-08-15 2020-10-12 404266 ENSG00000233101 OTTHUMG00000159919 uc060gvo.1 BC010732 NR_033201 C0HLZ6 31234830 HGNC:40283 +HGNC:40285 HOXB-AS4 HOXB cluster antisense RNA 4 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 HOXB cluster antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2012-02-18 2012-08-15 2014-11-19 100874351 ENSG00000242207 OTTHUMG00000159902 uc060gwm.1 "DB109357|AI940041" NR_046611 HOXB-AS4 +HGNC:5110 HOXB@ homeobox B cluster other region Approved 17q21.32 17q21.32 HOX2@ homeo box B cluster 1986-01-01 2005-12-22 2011-06-01 3210 "1973146|1358459" +HGNC:5111 HOXB1 homeobox B1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2I" homeo box B1 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2021-05-26 3211 ENSG00000120094 OTTHUMG00000159929 uc002ink.2 NM_002144 CCDS32675 P14653 "1973146|1358459" MGI:96182 RGD:1310298 142968 8639 311103 HGNC:5111 "ENST00000239174.7|NM_002144.4" HGNC:5111 +HGNC:5113 HOXB2 homeobox B2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2H" homeo box B2 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3212 ENSG00000173917 OTTHUMG00000159930 uc002inm.5 NM_002145 CCDS11527 P14652 "1973146|1358459" MGI:96183 RGD:2319509 142967 8641 HGNC:5113 "ENST00000330070.6|NM_002145.4" +HGNC:5114 HOXB3 homeobox B3 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2G" homeo box B3 "HOXL subclass homeoboxes|MicroRNA protein coding host genes" "518|1691" 1990-06-15 2005-12-22 2015-08-25 3213 ENSG00000120093 OTTHUMG00000159922 uc010dbf.4 NM_001330322 "CCDS82154|CCDS82153|CCDS11528" P14651 "1973146|1358459" MGI:96184 RGD:1310780 142966 8642 HGNC:5114 "ENST00000498678.6|NM_001384749.1" +HGNC:5115 HOXB4 homeobox B4 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2F" homeo box B4 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3214 ENSG00000182742 OTTHUMG00000159920 uc002inp.4 NM_024015 CCDS11529 P17483 "1973146|1358459" MGI:96185 RGD:1560113 142965 8643 HGNC:5115 "ENST00000332503.6|NM_024015.5" +HGNC:5116 HOXB5 homeobox B5 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2A" homeo box B5 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-09-07 3215 ENSG00000120075 OTTHUMG00000159913 uc002inr.4 NM_002147 CCDS11530 P09067 "1973146|1358459" MGI:96186 RGD:1562292 142960 8644 HGNC:5116 "ENST00000239151.6|NM_002147.4" +HGNC:5117 HOXB6 homeobox B6 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2B" homeo box B6 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3216 ENSG00000108511 OTTHUMG00000159912 uc010dbh.2 NM_001369397 CCDS11531 P17509 "1973146|1358459" MGI:96187 RGD:1562142 142961 8645 HGNC:5117 "ENST00000225648.4|NM_018952.5" +HGNC:5118 HOXB7 homeobox B7 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2C" homeo box B7 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2016-11-09 3217 ENSG00000260027 OTTHUMG00000170231 uc002inv.4 NM_004502 CCDS11532 P09629 "1973146|1358459" MGI:96188 RGD:1559918 142962 8646 HGNC:5118 "ENST00000239165.9|NM_004502.4" +HGNC:5119 HOXB8 homeobox B8 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2|HOX2D" homeo box B8 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3218 ENSG00000120068 OTTHUMG00000159904 uc002inw.3 NM_024016 CCDS11533 P17481 "1973146|1358459" MGI:96189 RGD:1586211 142963 8647 HGNC:5119 "ENST00000239144.5|NM_024016.4" +HGNC:5120 HOXB9 homeobox B9 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "HOX2E|HOX2" homeo box B9 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3219 ENSG00000170689 OTTHUMG00000159907 uc002inx.4 NM_024017 CCDS11534 P17482 "1973146|1358459" MGI:96190 RGD:1306158 142964 8648 HGNC:5120 "ENST00000311177.7|NM_024017.5" +HGNC:5112 HOXB13 homeobox B13 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 homeo box B13 HOXL subclass homeoboxes 518 1999-07-01 2005-12-22 2021-05-26 10481 ENSG00000159184 OTTHUMG00000159900 uc002ioa.4 U57052 NM_006361 CCDS11536 Q92826 "8756292|9665387" MGI:107730 RGD:1309113 LRG_771|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_771.xml 604607 8640 292052 HGNC:5112 "ENST00000290295.8|NM_006361.6" HGNC:5112 +HGNC:43749 HOXC-AS1 HOXC cluster antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 HOXC cluster antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-18 2012-08-15 2017-03-10 100874363 ENSG00000250451 OTTHUMG00000160024 uc031zck.1 "BU619815|CA429707" NR_047504 27574949 HOXC-AS1 HGNC:43749 +HGNC:43750 HOXC-AS2 HOXC cluster antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 HOXC cluster antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-02-18 2012-08-15 2021-04-07 100874364 ENSG00000250133 OTTHUMG00000160030 uc031zcj.1 "AI935658|BF195843" NR_047505 HOXC-AS2 HGNC:43750 +HGNC:43751 HOXC-AS3 HOXC cluster antisense RNA 3 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 HOXC cluster antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2012-02-18 2012-08-15 2022-02-22 100874365 ENSG00000251151 OTTHUMG00000160025 uc058ott.1 NR_047506 35034519 HOXC-AS3 HGNC:43751 +HGNC:5121 HOXC@ homeobox C cluster other region Approved 12q12-q13 12q12-q13 HOX3@ homeo box C cluster 1986-01-01 2005-12-22 2011-06-01 3220 "1973146|1358459" +HGNC:5126 HOXC4 homeobox C4 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HOX3|HOX3E" homeo box C4 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2019-09-18 3221 ENSG00000198353 OTTHUMG00000160036 uc001seu.5 NM_014620 CCDS8873 P09017 "1973146|1358459" MGI:96195 RGD:1586210 142974 8653 HGNC:5126 "ENST00000430889.3|NM_153633.3" +HGNC:5127 HOXC5 homeobox C5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HOX3D|HOX3" homeo box C5 "HOXL subclass homeoboxes|MicroRNA protein coding host genes" "518|1691" 1990-06-15 2005-12-22 2015-08-25 3222 ENSG00000172789 OTTHUMG00000160028 uc001sew.4 NM_018953 CCDS8872 Q00444 "1973146|1358459" MGI:96196 RGD:1307584 142973 8654 HGNC:5127 "ENST00000312492.3|NM_018953.4" +HGNC:5128 HOXC6 homeobox C6 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HOX3C|HOX3" homeo box C6 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3223 ENSG00000197757 OTTHUMG00000160027 uc001sev.4 NM_004503 "CCDS41792|CCDS8871" P09630 "1973146|1358459" MGI:96197 RGD:620626 142972 8655 HGNC:5128 "ENST00000243108.5|NM_004503.4" +HGNC:5129 HOXC8 homeobox C8 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HOX3|HOX3A" homeo box C8 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2020-04-01 3224 ENSG00000037965 OTTHUMG00000160032 uc001ser.4 X99680 NM_022658 CCDS8870 P31273 "1973146|1358459" MGI:96198 RGD:2821 142970 8656 HGNC:5129 "ENST00000040584.6|NM_022658.4" +HGNC:5130 HOXC9 homeobox C9 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HOX3|HOX3B" homeo box C9 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2019-04-16 3225 ENSG00000180806 OTTHUMG00000160033 uc058oud.1 NM_006897 CCDS8869 P31274 1973146 MGI:96199 RGD:1595784 142971 8657 HGNC:5130 "ENST00000303450.5|NM_006897.3" +HGNC:5122 HOXC10 homeobox C10 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 HOX3I homeo box C10 HOXL subclass homeoboxes 518 1993-02-18 2005-12-22 2015-08-25 3226 ENSG00000180818 OTTHUMG00000160031 uc001sen.4 NM_017409 CCDS8868 Q9NYD6 1358459 MGI:96192 RGD:1307250 605560 8649 HGNC:5122 "ENST00000303460.5|NM_017409.4" +HGNC:5123 HOXC11 homeobox C11 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 HOX3H homeo box C11 HOXL subclass homeoboxes 518 1991-06-06 2005-12-22 2015-08-25 3227 ENSG00000123388 OTTHUMG00000160011 uc058oto.1 NM_014212 CCDS8867 O43248 "1973146|1358459" MGI:96193 RGD:6489991 HOXC11 605559 8650 HGNC:5123 "ENST00000546378.1|NM_014212.4" +HGNC:5124 HOXC12 homeobox C12 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HOX3|HOX3F|HOC3F" homeo box C12 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3228 ENSG00000123407 OTTHUMG00000160010 uc010soq.3 AF328962 NM_173860 CCDS8866 P31275 "1973146|1358459" MGI:96194 RGD:1310539 142975 8651 HGNC:5124 "ENST00000243103.4|NM_173860.3" +HGNC:5125 HOXC13 homeobox C13 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HOX3|HOX3G" homeo box C13 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2021-05-26 3229 ENSG00000123364 OTTHUMG00000160008 uc001sei.4 NM_017410 CCDS8865 P31276 "1973146|1358459" MGI:99560 RGD:1563984 HOXC13 142976 8652 317546 HGNC:5125 "ENST00000243056.5|NM_017410.3" HGNC:5125 +HGNC:43753 HOXC13-AS HOXC13 antisense RNA non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 HOXC-AS5 "HOXC cluster antisense RNA 5 (non-protein coding)|HOXC cluster antisense RNA 5" Antisense RNAs 1987 2012-02-18 2014-01-09 2014-01-09 2020-02-28 100874366 ENSG00000249641 OTTHUMG00000160009 CN364530 NR_047507 32095369 HOXC13-AS HGNC:43753 +HGNC:43756 HOXD-AS2 HOXD cluster antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 HOXD cluster antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-02-18 2012-08-15 2012-10-12 100506783 ENSG00000237380 OTTHUMG00000154174 uc061pyc.1 BC034000 NR_038435 HOXD-AS2 HGNC:43756 +HGNC:5131 HOXD@ homeobox D cluster other region Approved 2q31.1 02q31.1 HOX4@ homeo box D cluster 1986-01-01 2005-12-22 2011-06-01 3230 "1973146|1358459" +HGNC:5132 HOXD1 homeobox D1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4|HOX4G" homeo box D1 "HOXL subclass homeoboxes|MicroRNA protein coding host genes" "518|1691" 1990-07-05 2005-12-22 2015-08-25 3231 ENSG00000128645 OTTHUMG00000132512 uc002ukv.5 NM_024501 CCDS2271 Q9GZZ0 "1973146|1358459" MGI:96201 RGD:1309179 142987 8658 HGNC:5132 "ENST00000331462.6|NM_024501.3" +HGNC:5137 HOXD3 homeobox D3 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4A|HOX4|HOX1D" homeo box D3 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3232 ENSG00000128652 OTTHUMG00000187566 uc061pyi.1 NM_006898 CCDS2270 P31249 "1973146|1358459" MGI:96207 RGD:1588601 142980 8662 HGNC:5137 "ENST00000683222.1|NM_006898.5" +HGNC:5138 HOXD4 homeobox D4 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4B|HOX4" homeo box D4 "HOXL subclass homeoboxes|MicroRNA protein coding host genes" "518|1691" 1990-06-15 2005-12-22 2021-05-26 3233 ENSG00000170166 OTTHUMG00000132515 uc002uks.4 NM_014621 CCDS2269 P09016 "1973146|1358459" MGI:96208 RGD:1309690 142981 8663 HGNC:5138 "ENST00000306324.4|NM_014621.3" +HGNC:5139 HOXD8 homeobox D8 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4|HOX4E" homeo box D8 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3234 ENSG00000175879 OTTHUMG00000132513 uc002uko.4 NM_001199746 "CCDS56148|CCDS56149|CCDS2268" P13378 "1973146|1358459" MGI:96209 RGD:6489440 142985 8664 HGNC:5139 "ENST00000313173.6|NM_019558.4" +HGNC:5140 HOXD9 homeobox D9 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4C|HOX4" homeo box D9 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3235 ENSG00000128709 OTTHUMG00000132516 uc010zex.3 NM_014213 CCDS2267 P28356 "1973146|1358459" MGI:96210 RGD:1582908 142982 8665 HGNC:5140 "ENST00000249499.8|NM_014213.4" +HGNC:5133 HOXD10 homeobox D10 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4|HOX4D" homeo box D10 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2021-05-26 3236 ENSG00000128710 OTTHUMG00000132511 uc002ukj.4 NM_002148 CCDS2266 P28358 "1973146|1358459" MGI:96202 RGD:1306511 LRG_246|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_246.xml 142984 8659 189174 HGNC:5133 "ENST00000249501.5|NM_002148.4" HGNC:5133 +HGNC:5134 HOXD11 homeobox D11 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "HOX4|HOX4F" homeo box D11 HOXL subclass homeoboxes 518 1990-06-15 2005-12-22 2015-08-25 3237 ENSG00000128713 OTTHUMG00000132510 uc010fqx.4 NM_021192 CCDS2265 P31277 "1973146|1358459" MGI:96203 RGD:7730597 HOXD11 142986 8660 HGNC:5134 "ENST00000249504.7|NM_021192.3" +HGNC:5135 HOXD12 homeobox D12 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 HOX4H homeo box D12 HOXL subclass homeoboxes 518 1991-05-08 2005-12-22 2015-08-25 3238 ENSG00000170178 OTTHUMG00000150358 uc010zev.2 NM_021193 CCDS46456 P35452 "1675198|1973146" MGI:96204 RGD:1309797 142988 8661 470464 HGNC:5135 "ENST00000406506.4|NM_021193.4" +HGNC:5136 HOXD13 homeobox D13 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 synpolydactyly "HOX4I|SPD" homeo box D13 HOXL subclass homeoboxes 518 1991-05-08 2005-12-22 2021-05-26 3239 ENSG00000128714 OTTHUMG00000132431 uc002ukf.2 AF005219 NM_000523 CCDS2264 P35453 "2574852|1973146" MGI:96205 RGD:1308417 HOXD13 142989 8597 122466 HGNC:5136 "ENST00000392539.4|NM_000523.4" HGNC:5136 +HGNC:5141 HP haptoglobin protein-coding gene gene with protein product Approved 16q22.2 16q22.2 Sushi domain containing 1179 2001-06-22 2015-08-25 3240 ENSG00000257017 OTTHUMG00000173009 uc002fbr.5 NM_005143 "CCDS45525|CCDS82010|CCDS45524" P00738 "11109501|9352226" MGI:96211 RGD:2825 140100 470466 S01.972 HGNC:5141 "ENST00000355906.10|NM_005143.5" +HGNC:24973 HP1BP3 heterochromatin protein 1 binding protein 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 HP1-BP74 heterochromatin protein 1, binding protein 3 2005-05-16 2016-02-23 2016-02-23 50809 ENSG00000127483 OTTHUMG00000002622 uc001bdw.2 BC053327 NM_016287 CCDS30621 Q5SSJ5 24830416 MGI:109369 RGD:735099 616072 HGNC:24973 "ENST00000438032.6|NM_001372052.1" +HGNC:5144 HPCA hippocalcin protein-coding gene gene with protein product Approved 1p35.1 01p35.1 DYT2 dystonia 2, torsion (autosomal recessive) EF-hand domain containing 863 1994-12-14 2019-07-09 3208 ENSG00000121905 OTTHUMG00000004017 uc001bwh.4 BC001777 NM_002143 CCDS370 P84074 "8166736|9931466|25799108" MGI:1336200 RGD:620060 142622 426083 HGNC:5144 "ENST00000373467.4|NM_002143.3" HGNC:5144 +HGNC:5145 HPCAL1 hippocalcin like 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "BDR1|HLP2|VILIP-3" "visinin-like protein 3|calcium-binding protein BDR-1" EF-hand domain containing 863 1994-12-14 2016-01-12 2016-01-12 3241 ENSG00000115756 OTTHUMG00000090451 uc002raj.5 NM_002149 CCDS1671 P37235 "8038222|14739275" MGI:1855689 RGD:708375 600207 HGNC:5145 "ENST00000307845.8|NM_002149.4" +HGNC:18212 HPCAL4 hippocalcin like 4 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "HLP4|DKFZp761G122" EF-hand domain containing 863 2002-05-01 2014-11-19 51440 ENSG00000116983 OTTHUMG00000009246 uc001cdr.5 AB001105 NM_016257 "CCDS72761|CCDS441" Q9UM19 10520747 MGI:2157521 RGD:708491 619211 HGNC:18212 "ENST00000372844.8|NM_016257.4" +HGNC:5147 HPD 4-hydroxyphenylpyruvate dioxygenase protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "4-HPPD|4HPPD|GLOD3" glyoxalase domain containing 3 PPD Glyoxalase domain containing family 2111 1992-12-08 2013-09-19 3242 ENSG00000158104 OTTHUMG00000169081 uc001ubj.4 BC014790 NM_002150 "CCDS53839|CCDS9224" P32754 MGI:96213 RGD:61974 609695 122470 objectId:2621 1.13.11.27 HGNC:5147 "ENST00000289004.8|NM_002150.3" HGNC:5147 +HGNC:28242 HPDL 4-hydroxyphenylpyruvate dioxygenase like protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "MGC15668|4-HPPD-L" GLOXD1 glyoxalase domain containing 1 Glyoxalase domain containing family 2111 2005-07-26 2007-03-14 2016-03-16 2021-10-11 84842 ENSG00000186603 OTTHUMG00000007681 uc001cne.4 BC007293 NM_032756 CCDS519 Q96IR7 32707086 MGI:2444646 RGD:1310014 618994 HGNC:28242 "ENST00000334815.6|NM_032756.4" HGNC:28242 +HGNC:26051 HPF1 histone PARylation factor 1 protein-coding gene gene with protein product Approved 4q33 04q33 FLJ20534 C4orf27 chromosome 4 open reading frame 27 2006-06-15 2016-04-27 2016-04-27 2016-04-27 54969 ENSG00000056050 OTTHUMG00000160960 uc003isl.5 BC010367 NM_017867 CCDS3813 Q9NWY4 "11230166|27067600" MGI:1919862 RGD:1311747 616614 HGNC:26051 "ENST00000393381.3|NM_017867.3" +HGNC:5154 HPGD 15-hydroxyprostaglandin dehydrogenase protein-coding gene gene with protein product Approved 4q34.1 04q34.1 SDR36C1 "short chain dehydrogenase/reductase family 36C, member 1|15-hydroxyprostaglandin dehydrogenase (NAD(+))" hydroxyprostaglandin dehydrogenase 15-(NAD) Short chain dehydrogenase/reductase superfamily 743 1991-07-16 2017-08-04 2021-05-26 3248 ENSG00000164120 OTTHUMG00000160772 uc003itu.3 NM_000860 "CCDS58935|CCDS3821|CCDS87280|CCDS54821|CCDS58933|CCDS58934" P15428 19027726 MGI:108085 RGD:620087 601688 168077 objectId:1384 1.1.1.141 HGNC:5154 "ENST00000296522.11|NM_000860.6" HGNC:5154 +HGNC:17890 HPGDS hematopoietic prostaglandin D synthase protein-coding gene gene with protein product Approved 4q22.3 04q22.3 "GSTS|PGDS|H-PGDS|PGD2|GSTS1-1|GSTS1" glutathione S-transferase sigma Soluble glutathione S-transferases 567 2009-07-14 2016-10-05 27306 ENSG00000163106 OTTHUMG00000130974 uc003hte.2 D82073 NM_014485 CCDS3640 O60760 "9323136|9353279|11672424" MGI:1859384 RGD:69251 602598 objectId:1381 HGNC:17890 "ENST00000295256.10|NM_014485.3" +HGNC:5155 HPN hepsin protein-coding gene gene with protein product Approved 19q13.11 19q13.11 TMPRSS1 transmembrane protease, serine 1 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 1992-12-07 2008-12-08 2016-10-05 3249 ENSG00000105707 OTTHUMG00000182474 uc002nxq.3 NM_002151 CCDS32993 P05981 2835076 MGI:1196620 RGD:61982 142440 S01.224 HGNC:5155 "ENST00000672452.2|NM_001384133.1" +HGNC:47041 HPN-AS1 HPN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.11-q13.12 19q13.11-q13.12 Antisense RNAs 1987 2013-04-21 2018-02-13 100128675 ENSG00000227392 OTTHUMG00000182475 uc010xsi.3 NR_024561 HPN-AS1 HGNC:47041 +HGNC:5156 HPR haptoglobin-related protein protein-coding gene gene with protein product Approved 16q22.2 16q22.2 Sushi domain containing 1179 2001-06-22 2014-11-19 3250 ENSG00000261701 OTTHUMG00000173010 uc002fby.4 BC160066 NM_020995 CCDS42193 P00739 "2987228|16778136" MGI:96211 140210 S01.974 HGNC:5156 "ENST00000540303.7|NM_020995.4" +HGNC:5157 HPRT1 hypoxanthine phosphoribosyltransferase 1 protein-coding gene gene with protein product Approved Xq26.2-q26.3 Xq26.2-q26.3 HGPRT "Lesch-Nyhan syndrome|hypoxanthine guanine phosphoribosyl transferase" HPRT 2001-06-22 2008-08-01 2021-12-06 3251 ENSG00000165704 OTTHUMG00000022452 uc004exl.5 M26434 NM_000194 CCDS14641 P00492 12175903 MGI:96217 RGD:2826 Hypoxanthine Guanine Phosphoribosyltransferase 1; Lech-Nyhan Syndrome|http://www.ibiblio.org/dnam/mainpage.html 308000 122476 2.4.2.8 HGNC:5157 "ENST00000298556.8|NM_000194.3" HGNC:5157 +HGNC:51622 HPRT1P1 hypoxanthine phosphoribosyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 4p15.32 04p15.32 2015-03-26 2015-03-26 100130067 ENSG00000251644 OTTHUMG00000160176 NG_022006 PGOHUM00000299773 HGNC:51622 +HGNC:5160 HPRT1P2 hypoxanthine phosphoribosyltransferase 1 pseudogene 2 pseudogene pseudogene Approved 5p13.3 05p13.3 HPRTP2 hypoxanthine phosphoribosyltransferase pseudogene 2 2001-06-22 2015-03-26 2015-03-26 2015-03-26 3254 ENSG00000250587 OTTHUMG00000161944 NG_003031 "6089358|1675192" PGOHUM00000300908 HGNC:5160 +HGNC:5161 HPRT1P3 hypoxanthine phosphoribosyltransferase 1 pseudogene 3 pseudogene pseudogene Approved 11q21 11q21 "HPRTP3|HPRTP4" "hypoxanthine phosphoribosyltransferase pseudogene 3|hypoxanthine phosphoribosyltransferase pseudogene 4" 2001-06-22 2015-03-26 2015-03-26 2015-03-26 3255 ENSG00000256752 OTTHUMG00000167744 NG_007296 PGOHUM00000290654 HGNC:5161 +HGNC:5163 HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 BLOC3S1 HPS "Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 1" "Biogenesis of lysosomal organelles complex 3 |MicroRNA protein coding host genes" "1039|1691" 1990-05-14 2002-05-01 2019-01-22 2021-05-26 3257 ENSG00000107521 OTTHUMG00000018876 uc057vhe.1 U79136 "NM_000195|NM_182637|NM_182638|NM_182639" "CCDS7475|CCDS7476" Q92902 "8541858|7573033" MGI:2177763 RGD:69193 "Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the ep-Gene|http://www.retina-international.org/files/sci-news/epmut.htm|LRG_562|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_562.xml" 604982 122480 HGNC:5163 "ENST00000361490.9|NM_000195.5" HGNC:5163 +HGNC:56166 HPS1-AS1 HPS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 Antisense RNAs 1987 2022-01-14 2022-01-14 101927278 ENSG00000287261 NR_134451 +HGNC:15597 HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 protein-coding gene gene with protein product Approved 3q24 03q24 "SUTAL|BLOC2S1" Hermansky-Pudlak syndrome 3 Biogenesis of lysosomal organelles complex 2 1038 2001-06-13 2019-01-22 2021-05-26 84343 ENSG00000163755 OTTHUMG00000159548 uc003ewu.2 AY033141 NM_032383 "CCDS3140|CCDS77836" Q969F9 11455388 MGI:2153839 RGD:1310548 "Mutations of the HPS3 Gene|http://www.retina-international.org/files/sci-news/hps3mut.htm|Albinism Database|http://albinismdb.med.umn.edu/|LRG_563|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_563.xml" 606118 122483 HGNC:15597 "ENST00000296051.7|NM_032383.5" HGNC:15597 +HGNC:15844 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "KIAA1667|LE|BLOC3S2" Hermansky-Pudlak syndrome 4 Biogenesis of lysosomal organelles complex 3 1039 2001-06-28 2019-01-22 2021-05-26 89781 ENSG00000100099 OTTHUMG00000030459 uc003acl.5 NM_022081 "CCDS13835|CCDS46677" Q9NQG7 "11836498|12663659" MGI:2177742 RGD:1308070 "Mutations of the Human light ear Gene (le, HPS4)|http://www.retina-international.org/files/sci-news/lemut.htm|LRG_590|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_590.xml" 606682 122486 HGNC:15844 "ENST00000398145.7|NM_022081.6" HGNC:15844 +HGNC:17022 HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "BLOC2S2|AIBP63|RU2" "alpha-integrin-binding protein 63|Ruby-eye protein 2 homolog" Hermansky-Pudlak syndrome 5 "WD repeat domain containing|Biogenesis of lysosomal organelles complex 2 " "362|1038" 2002-06-13 2019-01-22 2021-05-26 11234 ENSG00000110756 OTTHUMG00000166612 uc001mod.2 AB023234 NM_181507 "CCDS7836|CCDS7837" Q9UPZ3 "10231032|10094488" MGI:2180307 RGD:1311916 LRG_586|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_586.xml 607521 122490 HGNC:17022 "ENST00000349215.8|NM_181507.2" HGNC:17022 +HGNC:18817 HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "FLJ22501|BLOC2S3" Hermansky-Pudlak syndrome 6 Biogenesis of lysosomal organelles complex 2 1038 2004-02-04 2019-01-22 2021-05-26 79803 ENSG00000166189 OTTHUMG00000018945 uc001kuj.4 BC009258 NM_024747 CCDS7527 Q86YV9 12548288 MGI:2181763 RGD:631341 LRG_564|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_564.xml 607522 122492 HGNC:18817 "ENST00000299238.7|NM_024747.6" HGNC:18817 +HGNC:5164 HPSE heparanase protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "HPA|HSE1|HPSE1" Heparanases 1651 1999-09-28 2016-10-05 10855 ENSG00000173083 OTTHUMG00000130425 uc003hok.4 AF144325 NM_006665 "CCDS56337|CCDS54774|CCDS3602" Q9Y251 "10395325|10395326" MGI:1343124 RGD:61969 604724 objectId:2996 HGNC:5164 "ENST00000311412.10|NM_001098540.3" +HGNC:18374 HPSE2 heparanase 2 (inactive) protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "HPA2|HPR2" UFS "urofacial syndrome|heparanase 2" "Heparanases|MicroRNA protein coding host genes" "1651|1691" 2002-09-02 2014-05-09 2017-11-29 60495 ENSG00000172987 OTTHUMG00000018880 uc001kpn.3 AF282885 NM_021828 "CCDS53566|CCDS7477|CCDS53567|CCDS53568" Q8WWQ2 "11027606|20560210|9199567|20576607" MGI:2685814 RGD:1307959 613469 235189 HGNC:18374 "ENST00000370552.8|NM_021828.5" HGNC:18374 +HGNC:5168 HPV6AI1 human papillomavirus (type 6a) integration site 1 other virus integration site Approved 10q24 10q24 1994-05-19 2010-06-16 3259 X77607 8118820 604461 +HGNC:5166 HPV18I1 human papillomavirus (type 18) integration site 1 other virus integration site Approved 8q24 08q24 "HPV18I|D8S37" human papilloma virus (type 18) integration site 1 1991-08-19 2017-08-03 2017-08-03 3260 3028716 167959 +HGNC:5167 HPV18I2 human papillomavirus (type 18) integration site 2 other virus integration site Approved 12q14 12q14 PAL2 papillomavirus-associated locus 2 1991-08-19 2010-06-17 3261 "X88931|X88932" "3033295|7592643" 167960 +HGNC:5171 HPX hemopexin protein-coding gene gene with protein product Approved 11p15.4 11p15.4 2001-06-22 2016-10-05 3263 ENSG00000110169 OTTHUMG00000133399 uc001mdg.3 J03048 NM_000613 CCDS7763 P02790 "2989777|2842511" MGI:105112 RGD:62040 142290 HGNC:5171 "ENST00000265983.8|NM_000613.3" +HGNC:16071 HPYR1 Helicobacter pylori responsive 1 non-coding RNA RNA, long non-coding Approved 8q24.22 08q24.22 "HPRG1|NCRNA00027|LINC00027" "non-protein coding RNA 27|long intergenic non-protein coding RNA 27" "Helicobacter pylori responsive 1|Helicobacter pylori responsive 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-07-16 2018-05-16 2018-05-16 93668 ENSG00000253521 OTTHUMG00000164645 uc011liz.1 AF200341 NR_026684 11598072 HPYR1 HGNC:16071 +HGNC:5172 HR HR lysine demethylase and nuclear receptor corepressor protein-coding gene gene with protein product Approved 8p21.3 08p21.3 AU ALUNC "hairless homolog (mouse)|hair growth associated" 1995-07-11 2019-01-22 2020-06-18 55806 ENSG00000168453 OTTHUMG00000097089 uc003xas.4 AF039196 NM_005144 "CCDS6023|CCDS6022" O43593 "10051399|9463324|19122663|24334705" MGI:96223 RGD:620634 602302 122495 1.14.11.- HGNC:5172 "ENST00000381418.9|NM_005144.5" HGNC:5172 +HGNC:5173 HRAS HRas proto-oncogene, GTPase protein-coding gene gene with protein product Approved 11p15.5 11p15.5 HRAS1 "v-Ha-ras Harvey rat sarcoma viral oncogene homolog|Harvey rat sarcoma viral oncogene homolog" RAS type GTPase family 389 2001-06-22 2016-06-10 2021-05-26 3265 ENSG00000174775 OTTHUMG00000131919 uc010qvx.3 AJ437024 NM_176795 "CCDS7699|CCDS7698" P01112 MGI:96224 RGD:2827 LRG_506|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_506.xml HRAS 190020 122499 objectId:2822 HGNC:5173 "ENST00000311189.8|NM_005343.4" HGNC:5173 +HGNC:5178 HRC histidine rich calcium binding protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 MGC133236 histidine-rich calcium-binding protein 1990-09-30 2001-11-28 2016-10-06 3270 ENSG00000130528 OTTHUMG00000183203 uc002pmv.4 NM_002152 CCDS12759 P23327 2037293 MGI:96226 RGD:727864 142705 HGNC:5178 "ENST00000252825.9|NM_002152.3" +HGNC:33872 HRCT1 histidine rich carboxyl terminus 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "LGLL338|PRO537|UNQ338" 2008-09-17 2014-11-19 646962 ENSG00000196196 OTTHUMG00000154146 uc003zyr.1 NM_001039792 CCDS35012 Q6UXD1 12975309 MGI:1917945 RGD:2323278 HGNC:33872 "ENST00000354323.3|NM_001039792.2" +HGNC:5180 HRES1 HTLV-1 related endogenous sequence pseudogene pseudogene Approved 1q42 01q42 "HRES-1/p28|HRES-1" 1991-06-07 2019-06-26 3272 X16660 P13985 1783388 143025 +HGNC:5181 HRG histidine rich glycoprotein protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "HRGP|HPRG" "histidine-proline rich glycoprotein|thrombophilia due to elevated HRG" histidine-rich glycoprotein Cystatins, type 4 968 1989-05-25 2016-01-26 2021-04-13 3273 ENSG00000113905 OTTHUMG00000156578 uc003fqq.5 NM_000412 CCDS3280 P04196 1678514 MGI:2146636 RGD:619808 LRG_601|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_601.xml 142640 220905 LI25-005 HGNC:5181 "ENST00000232003.5|NM_000412.5" HGNC:5181 +HGNC:55915 HRG-AS1 HRG and FETUB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 Antisense RNAs 1987 2021-10-11 2021-10-11 105374258 ENSG00000197099 XR_001741059 +HGNC:5182 HRH1 histamine receptor H1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 Histamine receptors 187 1994-12-12 2016-10-05 3269 ENSG00000196639 OTTHUMG00000129719 uc010hdr.4 NM_000861 CCDS2604 P35367 8003029 MGI:107619 RGD:2830 600167 objectId:262 HGNC:5182 "ENST00000431010.3|NM_001098212.2" +HGNC:5183 HRH2 histamine receptor H2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 Histamine receptors 187 1994-12-12 2016-10-06 3274 ENSG00000113749 OTTHUMG00000130660 uc003mdd.3 NM_001131055 CCDS47344 P25021 1714721 MGI:108482 RGD:2831 142703 objectId:263 HGNC:5183 "ENST00000636584.2|NM_001367711.1" +HGNC:5184 HRH3 histamine receptor H3 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 GPCR97 Histamine receptors 187 2000-01-07 2015-08-25 11255 ENSG00000101180 OTTHUMG00000032899 uc002ycf.3 AF140538 NM_007232 CCDS13493 Q9Y5N1 10347254 MGI:2139279 RGD:620630 604525 objectId:264 HGNC:5184 "ENST00000340177.10|NM_007232.3" +HGNC:17383 HRH4 histamine receptor H4 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "H4R|HH4R|AXOR35|GPCR105|GPRv53" Histamine receptors 187 2002-11-26 2014-11-19 59340 ENSG00000134489 OTTHUMG00000131945 uc002kvi.3 AF312230 NM_001143828 "CCDS45841|CCDS11887" Q9H3N8 "11118334|10973974" MGI:2429635 RGD:620631 606792 objectId:265 HGNC:17383 "ENST00000256906.5|NM_021624.4" +HGNC:5185 HRK harakiri, BCL2 interacting protein protein-coding gene gene with protein product Approved 12q24.22 12q24.22 DP5 death protein 5 harakiri, BCL2-interacting protein (contains only BH3 domain) BCL2 homology region 3 (BH3) only 1277 1999-05-21 2014-03-07 2016-10-06 8739 ENSG00000135116 OTTHUMG00000169328 uc001twe.5 U76376 NM_003806 CCDS9181 O00198 9130713 MGI:1201608 RGD:70549 603447 HGNC:5185 "ENST00000257572.5|NM_003806.4" +HGNC:20846 HRNR hornerin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "S100a18|S100A16|FLG3" filaggrin family member 3 "EF-hand domain containing|S100 fused type protein family" "863|1350" 2004-10-05 2020-01-15 388697 ENSG00000197915 OTTHUMG00000012243 uc001ezt.3 AB104446 NM_001009931 CCDS30859 Q86YZ3 15507446 MGI:3046938 RGD:1307660 616293 HGNC:20846 "ENST00000368801.4|NM_001009931.3" +HGNC:28460 HROB homologous recombination factor with OB-fold protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MGC3130|MCM8IP" C17orf53 chromosome 17 open reading frame 53 2005-12-15 2019-09-04 2019-09-06 2020-06-15 78995 ENSG00000125319 OTTHUMG00000181808 uc002ifi.2 AK021656 NM_024032 "CCDS82136|CCDS11477|CCDS59293" Q8N3J3 "31467087|32528060" MGI:2387601 RGD:1305385 618611 HGNC:28460 "ENST00000585683.6|NM_001171251.3" +HGNC:55085 HRURF HR upstream open reading frame protein-coding gene gene with protein product Approved 8p21.3 08p21.3 U2HR HR upstream reading frame 2020-12-16 2021-03-11 2021-03-26 120766137 ENSG00000288677 NM_001394132 P0DUH7 19122663 619257 +HGNC:24979 HS1BP3 HCLS1 binding protein 3 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "HS1-BP3|FLJ14249" 2006-08-15 2014-11-19 64342 ENSG00000118960 OTTHUMG00000122099 uc002rdw.2 NM_022460 CCDS1700 Q53T59 "10590261|15699368" MGI:1913224 RGD:1311331 609359 HGNC:24979 "ENST00000304031.8|NM_022460.4" +HGNC:41474 HS1BP3-IT1 HS1BP3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 HS1BP3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874343 ENSG00000231948 OTTHUMG00000151789 uc032nge.1 NR_046836 HS1BP3-IT1 HGNC:41474 +HGNC:5193 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 KIAA0448 Sulfotransferases, membrane bound 763 1999-10-14 2014-11-19 9653 ENSG00000153936 OTTHUMG00000010255 uc010osk.3 AB007917 NM_012262 "CCDS711|CCDS44171" Q7LGA3 9455484 MGI:1346049 RGD:1305366 604844 HGNC:5193 "ENST00000370550.10|NM_012262.4" +HGNC:5194 HS3ST1 heparan sulfate-glucosamine 3-sulfotransferase 1 protein-coding gene gene with protein product Approved 4p15.33 04p15.33 3OST1 heparan sulfate (glucosamine) 3-O-sulfotransferase 1 Sulfotransferases, membrane bound 763 1999-05-05 2015-12-04 2016-10-05 9957 ENSG00000002587 OTTHUMG00000090547 uc003gmq.4 AF019386 NM_005114 CCDS3408 O14792 9988767 MGI:1201606 RGD:71084 603244 2.8.2.23 HGNC:5194 "ENST00000002596.6|NM_005114.4" +HGNC:5195 HS3ST2 heparan sulfate-glucosamine 3-sulfotransferase 2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 3OST2 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 Sulfotransferases, membrane bound 763 1999-05-05 2015-12-04 2016-10-05 9956 ENSG00000122254 OTTHUMG00000094785 uc002dli.4 AF105374 NM_006043 CCDS10606 Q9Y278 9988767 MGI:1333802 RGD:727787 604056 2.8.2.23 HGNC:5195 "ENST00000261374.4|NM_006043.2" +HGNC:5196 HS3ST3A1 heparan sulfate-glucosamine 3-sulfotransferase 3A1 protein-coding gene gene with protein product Approved 17p12 17p12 "3OST3A1|30ST3A1" heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 "Sulfotransferases, membrane bound|MicroRNA protein coding host genes" "763|1691" 1999-05-05 2015-12-04 2015-12-04 9955 ENSG00000153976 OTTHUMG00000058768 uc002gob.1 AF105376 NM_006042 CCDS11165 Q9Y663 9988767 MGI:1333861 RGD:1561262 604057 2.8.2.23 HGNC:5196 "ENST00000284110.2|NM_006042.3" +HGNC:5198 HS3ST3B1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 protein-coding gene gene with protein product Approved 17p12 17p12 "3OST3B1|30ST3B1" heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 Sulfotransferases, membrane bound 763 1999-05-05 2015-12-04 2015-12-04 9953 ENSG00000125430 OTTHUMG00000058810 uc002goh.2 AF105377 NM_006041 CCDS11167 Q9Y662 9988767 MGI:1333853 RGD:1307326 604058 2.8.2.23 HGNC:5198 "ENST00000360954.3|NM_006041.3" +HGNC:5200 HS3ST4 heparan sulfate-glucosamine 3-sulfotransferase 4 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 3OST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 "Sulfotransferases, membrane bound|MicroRNA protein coding host genes" "763|1691" 1999-05-05 2015-12-04 2016-10-05 9951 ENSG00000182601 OTTHUMG00000059978 uc002dof.3 AF105378 NM_006040 CCDS53995 Q9Y661 9988767 MGI:1333792 RGD:11422907 604059 2.8.2.23 HGNC:5200 "ENST00000331351.6|NM_006040.3" +HGNC:19419 HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 protein-coding gene gene with protein product Approved 6q21-q22.1 06q21-q22.1 3-OST-5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 Sulfotransferases, membrane bound 763 2003-06-11 2015-12-04 2018-02-13 222537 ENSG00000249853 OTTHUMG00000015412 uc003pwh.5 AF503292 NM_153612 CCDS34517 Q8IZT8 12138164 MGI:2441996 RGD:1306379 609407 HGNC:19419 "ENST00000312719.10|NM_153612.4" +HGNC:14178 HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 HS3ST5 "heparan sulfate (glucosamine) 3-O-sulfotransferase 5|heparan sulfate (glucosamine) 3-O-sulfotransferase 6" Sulfotransferases, membrane bound 763 2000-12-21 2003-06-13 2015-12-04 2015-12-04 64711 ENSG00000162040 OTTHUMG00000047860 uc002cnf.5 NM_001009606 CCDS45381 Q96QI5 11157797 MGI:3580487 RGD:1584381 619210 HGNC:14178 "ENST00000454677.3|NM_001009606.4" +HGNC:5201 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 HS6ST Sulfotransferases, membrane bound 763 1999-12-07 2002-08-23 2021-05-26 9394 ENSG00000136720 OTTHUMG00000153542 uc002tpt.5 AB006179 NM_004807 CCDS42748 O60243 9535912 MGI:1354958 RGD:1309218 604846 281487 2.8.2.- HGNC:5201 "ENST00000259241.7|NM_004807.3" HGNC:5201 +HGNC:31835 HS6ST1P1 heparan sulfate 6-O-sulfotransferase 1 pseudogene 1 pseudogene pseudogene Approved 1p36.12 01p36.12 HS6ST1P heparan sulfate 6-O-sulfotransferase 1 pseudogene 2004-10-29 2010-03-19 2010-03-19 2014-11-19 388605 ENSG00000187952 OTTHUMG00000002942 NG_005670 HGNC:31835 +HGNC:19133 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 HS6ST-2 Sulfotransferases, membrane bound 763 2002-08-19 2021-11-18 90161 ENSG00000171004 OTTHUMG00000022430 uc011mve.2 AB067776 NM_147174 "CCDS48169|CCDS48170" Q96MM7 10644753 MGI:1354959 RGD:1564397 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HS6ST2 300545 HGNC:19133 "ENST00000370833.7|NM_001394073.1" HGNC:19133 +HGNC:40870 HS6ST2-AS1 HS6ST2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.2 Xq26.2 HS6ST2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874102 ENSG00000235849 OTTHUMG00000022427 uc031tkk.2 NR_046691 HS6ST2-AS1 HGNC:40870 +HGNC:19134 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "Sulfotransferases, membrane bound|MicroRNA protein coding host genes" "763|1691" 2002-10-07 2016-10-05 266722 ENSG00000185352 OTTHUMG00000017232 uc001vmw.4 AF539426 NM_153456 CCDS9481 Q8IZP7 MGI:1354960 RGD:1305888 609401 HGNC:19134 "ENST00000376705.4|NM_153456.4" +HGNC:5203 HSBP1 heat shock factor binding protein 1 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 1998-07-30 2019-08-20 3281 ENSG00000230989 OTTHUMG00000176653 uc002fgy.3 AF068754 NM_001537 CCDS45534 O75506 "9649501|9493008" MGI:1915446 RGD:628632 604553 HGNC:5203 "ENST00000433866.7|NM_001537.4" +HGNC:37243 HSBP1L1 heat shock factor binding protein 1 like 1 protein-coding gene gene with protein product Approved 18q23 18q23 "FLJ10967|MGC189743" 2009-09-21 2016-06-10 2020-04-01 440498 ENSG00000226742 OTTHUMG00000180375 uc002lno.5 NM_001136180 CCDS45886 C9JCN9 MGI:1913505 RGD:2301798 HGNC:37243 "ENST00000451882.3|NM_001136180.2" +HGNC:20053 HSBP1P1 heat shock factor binding protein 1 pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 2003-01-13 2014-11-19 326296 ENSG00000258650 OTTHUMG00000171142 NG_051335 PGOHUM00000248188 HGNC:20053 +HGNC:37300 HSBP1P2 heat shock factor binding protein 1 pseudogene 2 pseudogene pseudogene Approved 4q25 04q25 2009-09-21 2009-09-21 100288483 ENSG00000166530 OTTHUMG00000161107 XM_002342465 HGNC:37300 +HGNC:28913 HSCB HscB mitochondrial iron-sulfur cluster cochaperone protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "HSC20|DNAJC20|Jac1" DnaJ (Hsp40) homolog, subfamily C, member 20 HscB iron-sulfur cluster co-chaperone homolog (E. coli) DNAJ (HSP40) heat shock proteins 584 2006-10-30 2016-05-24 2016-05-24 150274 ENSG00000100209 OTTHUMG00000151092 uc003aea.4 AY191719 NM_172002 "CCDS87014|CCDS82704|CCDS13845" Q8IWL3 "12938016|16952052" MGI:2141135 RGD:1311005 608142 HGNC:28913 "ENST00000216027.8|NM_172002.5" +HGNC:5217 HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 protein-coding gene gene with protein product Approved 1p12 01p12 SDR11E1 short chain dehydrogenase/reductase family 11E, member 1 "HSDB3|HSD3B" Short chain dehydrogenase/reductase superfamily 743 1989-05-24 2014-11-18 3283 ENSG00000203857 OTTHUMG00000012525 uc001ehv.2 S45679 NM_000862 CCDS903 P14060 "2779585|19027726" "MGI:96233|MGI:96234|MGI:96235|MGI:96236|MGI:104645|MGI:109598|MGI:3711284|MGI:3782634" RGD:1308676 109715 "1.1.1.145|5.3.3.1" HGNC:5217 "ENST00000369413.8|NM_000862.3" +HGNC:5218 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 protein-coding gene gene with protein product Approved 1p12 01p12 SDR11E2 short chain dehydrogenase/reductase family 11E, member 2 Short chain dehydrogenase/reductase superfamily 743 1992-09-10 2014-11-18 3284 ENSG00000203859 OTTHUMG00000012526 uc021ost.2 BC038419 NM_000198 CCDS902 P26439 "1363812|19027726" "MGI:96233|MGI:96234|MGI:96235|MGI:96236|MGI:104645|MGI:109598|MGI:3711284|MGI:3782634" RGD:67377 613890 122515 objectId:2622 "1.1.1.145|5.3.3.1" HGNC:5218 "ENST00000369416.4|NM_000198.4" HGNC:5218 +HGNC:18324 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "C(27)-3BETA-HSD|SDR11E3" short chain dehydrogenase/reductase family 11E, member 3 Short chain dehydrogenase/reductase superfamily 743 2003-01-13 2016-07-18 80270 ENSG00000099377 OTTHUMG00000132417 uc002eaf.3 AF277719 NM_001142777 "CCDS10698|CCDS45466" Q9H2F3 "11067870|19027726" MGI:2141879 RGD:628727 607764 122517 "1.1.1.-|1.1.1.181" HGNC:18324 "ENST00000297679.10|NM_025193.4" HGNC:18324 +HGNC:5219 HSD3BP1 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 1 pseudogene pseudogene Approved 1p12 01p12 1998-02-26 2020-04-20 391076 ENSG00000187481 OTTHUMG00000012522 NG_022802 10552929 PGOHUM00000244871 HGNC:5219 +HGNC:5220 HSD3BP2 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 2 pseudogene pseudogene Approved 1p12 01p12 1998-02-26 2020-04-20 440606 ENSG00000203858 OTTHUMG00000012521 NG_005676 10552929 PGOHUM00000244870 HGNC:5220 +HGNC:5221 HSD3BP3 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 3 pseudogene pseudogene Approved 1p12 01p12 1998-02-26 2020-04-20 441900 ENSG00000249798 OTTHUMG00000012955 NG_027848 10552929 PGOHUM00000244872 HGNC:5221 +HGNC:5222 HSD3BP4 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 pseudogene pseudogene Approved 1p12 01p12 1998-02-26 2020-04-20 128102 ENSG00000203855 OTTHUMG00000012957 NR_033781 10552929 PGOHUM00000244873 HGNC:5222 +HGNC:5223 HSD3BP5 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 5 pseudogene pseudogene Approved 1p12 01p12 1998-02-26 2020-04-20 391081 ENSG00000198857 OTTHUMG00000012961 NG_022803 10552929 PGOHUM00000244874 HGNC:5223 +HGNC:5208 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 SDR26C1 short chain dehydrogenase/reductase family 26C, member 1 "HSD11B|HSD11" hydroxysteroid (11-beta) dehydrogenase 1 Short chain dehydrogenase/reductase superfamily 743 1991-11-14 2016-06-03 2016-10-05 3290 ENSG00000117594 OTTHUMG00000036481 uc021pin.2 BC012593 NM_005525 CCDS1489 P28845 "1885595|19027726" MGI:103562 RGD:2834 600713 173206 objectId:2763 1.1.1.146 HGNC:5208 "ENST00000367027.5|NM_005525.4" HGNC:5208 +HGNC:54053 HSD11B1-AS1 HSD11B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Antisense RNAs 1987 2018-09-26 2018-09-26 101930114 ENSG00000227591 OTTHUMG00000036478 NR_134509 HGNC:54053 +HGNC:30419 HSD11B1L hydroxysteroid 11-beta dehydrogenase 1 like protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SCDR10|SDR26C2|HSD1L" "short chain dehydrogenase/reductase 10|short chain dehydrogenase/reductase family 26C, member 2" hydroxysteroid (11-beta) dehydrogenase 1-like Short chain dehydrogenase/reductase superfamily 743 2006-03-31 2016-06-03 2020-04-01 374875 ENSG00000167733 OTTHUMG00000178586 uc002mco.5 AY268353 NM_198706 "CCDS12146|CCDS58642|CCDS74266|CCDS58641|CCDS45932|CCDS45931|CCDS12144|CCDS12145" Q7Z5J1 28871060 1.1.1.- HGNC:30419 "ENST00000339423.7|NM_198706.3" +HGNC:5209 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 SDR9C3 short chain dehydrogenase/reductase family 9C, member 3 hydroxysteroid (11-beta) dehydrogenase 2 Short chain dehydrogenase/reductase superfamily 743 1994-11-18 2016-06-03 2016-10-05 3291 ENSG00000176387 OTTHUMG00000137507 uc002etd.4 U14631 NM_000196 CCDS10837 P80365 "7859916|8611140|19027726" MGI:104720 RGD:2835 614232 122502 objectId:3143 1.1.1.- HGNC:5209 "ENST00000326152.6|NM_000196.4" HGNC:5209 +HGNC:5210 HSD17B1 hydroxysteroid 17-beta dehydrogenase 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "HSD17|MGC138140|SDR28C1" "Estradiol 17-beta-dehydrogenase-1|short chain dehydrogenase/reductase family 28CE, member 1" "EDHB17|EDH17B2" hydroxysteroid (17-beta) dehydrogenase 1 Short chain dehydrogenase/reductase superfamily 743 1991-06-05 2016-06-03 2020-04-01 3292 ENSG00000108786 OTTHUMG00000180243 uc002hzw.4 NM_000413 "CCDS82126|CCDS11428" P14061 "2330005|19027726" MGI:105077 RGD:2836 109684 1.1.1.62 HGNC:5210 "ENST00000585807.6|NM_000413.4" +HGNC:55314 HSD17B1-AS1 HSD17B1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 Antisense RNAs 1987 2020-10-19 2020-10-19 108783654 ENSG00000266962 NR_14440 +HGNC:5216 HSD17B1P1 hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1 pseudogene pseudogene Approved 17q21.2 17q21.2 SDR28C1P1 "EDHB17|EDH17B1|HSD17BP1" "hydroxysteroid (17-beta) dehydrogenase pseudogene 1|hydroxysteroid (17-beta) dehydrogenase 1 pseudogene 1" 1989-05-24 2010-01-08 2016-06-03 2016-10-06 643646 ENSG00000108785 OTTHUMG00000180242 U34879 NG_006749.2 "8703123|2779584" HGNC:5216 +HGNC:5211 HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 "HSD17|SDR9C2" short chain dehydrogenase/reductase family 9C, member 2 hydroxysteroid (17-beta) dehydrogenase 2 Short chain dehydrogenase/reductase superfamily 743 1994-09-14 2016-06-03 2016-10-05 3294 ENSG00000086696 OTTHUMG00000137631 uc002fgv.4 NM_002153 CCDS10936 P37059 "7759109|19027726" MGI:1096386 RGD:621803 109685 objectId:3094 1.1.1.62 HGNC:5211 "ENST00000199936.9|NM_002153.3" +HGNC:5212 HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 SDR12C2 short chain dehydrogenase/reductase family 12C, member 2 hydroxysteroid (17-beta) dehydrogenase 3 Short chain dehydrogenase/reductase superfamily 743 1994-09-14 2016-06-03 2021-04-13 3293 ENSG00000130948 OTTHUMG00000020292 uc004awa.2 NM_000197 CCDS6716 P37058 "8075637|19027726" MGI:107177 RGD:621805 LRG_1296|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1296.xml 605573 122511 1.1.1.62 HGNC:5212 "ENST00000375263.8|NM_000197.2" HGNC:5212 +HGNC:53136 HSD17B3-AS1 HSD17B3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q22.32 09q22.32 ENST00000448857 Antisense RNAs 1987 2017-02-16 2017-02-16 105376162 ENSG00000232283 OTTHUMG00000020294 NR_146524 27816668 HGNC:53136 +HGNC:5213 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "MFE-2|DBP|SDR8C1" "17beta-estradiol dehydrogenase type IV|peroxisomal multifunctional protein 2|17-beta-HSD IV|17-beta-hydroxysteroid dehydrogenase 4|D-bifunctional protein, peroxisomal|D-3-hydroxyacyl-CoA dehydratase|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase|beta-keto-reductase|beta-hydroxyacyl dehydrogenase|short chain dehydrogenase/reductase family 8C, member 1" hydroxysteroid (17-beta) dehydrogenase 4 Short chain dehydrogenase/reductase superfamily 743 1994-09-14 2016-06-03 2016-10-05 3295 ENSG00000133835 OTTHUMG00000128899 uc003ksj.4 NM_000414 "CCDS78051|CCDS78052|CCDS56378|CCDS56379|CCDS4126" P51659 "8938456|19027726" MGI:105089 RGD:621806 601860 122513 "4.2.1.107|1.1.1.35" HGNC:5213 "ENST00000510025.7|NM_000414.4" HGNC:5213 +HGNC:23316 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "HSE|RODH|SDR9C6" "oxidative 3-alpha-hydroxysteroid-dehydrogenase|3(alpha->beta)-hydroxysteroid epimerasel|retinol dehydrogenase|oxidoreductase|NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase|3-hydroxysteroid epimerase|short chain dehydrogenase/reductase family 9C, member 6" "hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)|hydroxysteroid (17-beta) dehydrogenase 6" Short chain dehydrogenase/reductase superfamily 743 2005-02-23 2016-06-03 2016-06-03 8630 ENSG00000025423 OTTHUMG00000170854 uc058pra.1 AF016509 NM_003725 CCDS8925 O14756 "11165032|19027726" MGI:1351670 RGD:708343 606623 "1.1.1.62|1.1.1.63|1.1.1.105" HGNC:23316 "ENST00000322165.1|NM_003725.4" +HGNC:5215 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "PRAP|SDR37C1" short chain dehydrogenase/reductase family 37C, member 1 hydroxysteroid (17-beta) dehydrogenase 7 Short chain dehydrogenase/reductase superfamily 743 2000-07-31 2016-06-03 2016-10-05 51478 ENSG00000132196 OTTHUMG00000034420 uc001gci.4 AF098786 NM_016371 "CCDS1242|CCDS76234" P56937 "10544267|10419022|19027726" MGI:1330808 RGD:2837 606756 1.1.1.270 HGNC:5215 "ENST00000254521.8|NM_016371.4" +HGNC:18689 HSD17B7P1 hydroxysteroid 17-beta dehydrogenase 7 pseudogene 1 pseudogene pseudogene Approved 1q44 01q44 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 1 2002-05-28 2016-06-03 2016-06-03 148818 ENSG00000232908 OTTHUMG00000040197 AJ297815 NG_001308 PGOHUM00000296863 HGNC:18689 +HGNC:28120 HSD17B7P2 hydroxysteroid 17-beta dehydrogenase 7 pseudogene 2 pseudogene pseudogene Approved 10p11.1 10p11.1 "HSD17B7|bA291L22.1" hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 2004-01-08 2016-06-03 2020-04-20 158160 ENSG00000099251 OTTHUMG00000017993 NR_003086 10544267 PGOHUM00000290106 HGNC:28120 +HGNC:3554 HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "HKE6|D6S2245E|RING2|KE6|H2-KE6|SDR30C1" short chain dehydrogenase/reductase family 30C, member 1 FABGL "FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)|hydroxysteroid (17-beta) dehydrogenase 8" Short chain dehydrogenase/reductase superfamily 743 2000-06-26 2002-02-22 2016-06-03 2016-10-05 7923 ENSG00000204228 OTTHUMG00000031117 uc011izs.3 D82061 NM_014234 CCDS4769 Q92506 "8812499|19027726" MGI:95911 RGD:1303158 601417 1.1.1.62 HGNC:3554 "ENST00000374662.4|NM_014234.5" +HGNC:4800 HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "ERAB|MHBD|17b-HSD10|ABAD|SDR5C1|MRPP2|CAMR" "type 10 17b-HSD|type 10 17beta-hydroxysteroid dehydrogenase|AB-binding alcohol dehydrogenase|short chain dehydrogenase/reductase family 5C, member 1|mitochondrial RNase P subunit 2" "HADH2|MRXS10" "hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II|mental retardation, X-linked, syndromic 10|hydroxysteroid (17-beta) dehydrogenase 10" "Short chain dehydrogenase/reductase superfamily|Mitochondrial RNase P complex" "743|1534" 1997-04-25 2006-11-22 2016-06-03 2021-04-13 3028 ENSG00000072506 OTTHUMG00000021612 uc004dsl.2 U96132 NM_004493 "CCDS35300|CCDS14354" Q99714 "9338779|16899120|19027726|18984158|17236142" MGI:1333871 RGD:69231 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HSD17B10|LRG_450|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_450.xml" 300256 122504 1.1.1.35 HGNC:4800 "ENST00000168216.11|NM_004493.3" HGNC:4800 +HGNC:22960 HSD17B11 hydroxysteroid 17-beta dehydrogenase 11 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "RetSDR2|17-BETA-HSD11|17-BETA-HSDXI|PAN1B|SDR16C2" "retinal short-chain dehydrogenase/reductase 2|short chain dehydrogenase/reductase family 16C, member 2" DHRS8 "dehydrogenase/reductase (SDR family) member 8|hydroxysteroid (17-beta) dehydrogenase 11" Short chain dehydrogenase/reductase superfamily 743 2003-12-02 2006-11-22 2016-06-03 2016-06-03 51170 ENSG00000198189 OTTHUMG00000130594 uc003hqp.3 AF126780 NM_016245 CCDS3619 Q8NBQ5 "11165019|12697717|19027726" MGI:2149821 RGD:1303235 612831 1.1.1.- HGNC:22960 "ENST00000358290.9|NM_016245.5" +HGNC:18646 HSD17B12 hydroxysteroid 17-beta dehydrogenase 12 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "KAR|SDR12C1" "3-ketoacyl-CoA reductase|short chain dehydrogenase/reductase family 12C, member 1" hydroxysteroid (17-beta) dehydrogenase 12 Short chain dehydrogenase/reductase superfamily 743 2002-05-20 2016-06-03 2016-07-22 51144 ENSG00000149084 OTTHUMG00000166403 uc001mxq.5 AF078850 NM_016142 CCDS7905 Q53GQ0 "12482854|19027726" MGI:1926967 RGD:708367 609574 1.1.1.62 HGNC:18646 "ENST00000278353.10|NM_016142.3" +HGNC:18685 HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "SCDR9|SDR16C3" short chain dehydrogenase/reductase family 16C, member 3 hydroxysteroid (17-beta) dehydrogenase 13 Short chain dehydrogenase/reductase superfamily 743 2002-05-27 2016-06-03 2016-06-03 345275 ENSG00000170509 OTTHUMG00000130602 uc003hqo.3 NM_178135 "CCDS3618|CCDS47097" Q7Z5P4 19027726 MGI:2140804 RGD:1359553 612127 1.1.-.- HGNC:18685 "ENST00000328546.5|NM_178135.5" +HGNC:23238 HSD17B14 hydroxysteroid 17-beta dehydrogenase 14 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "retSDR3|SDR47C1" "retinal short-chain dehydrogenase/reductase 3|short chain dehydrogenase/reductase family 47C, member 1" DHRS10 "dehydrogenase/reductase (SDR family) member 10|hydroxysteroid (17-beta) dehydrogenase 14" Short chain dehydrogenase/reductase superfamily 743 2003-12-02 2006-11-22 2016-06-03 2020-04-01 51171 ENSG00000087076 OTTHUMG00000183328 uc002pkv.2 AF126781 NM_016246 CCDS12736 Q9BPX1 "10800688|17067289|19027726" MGI:1913315 RGD:1588673 612832 HGNC:23238 "ENST00000263278.9|NM_016246.3" +HGNC:16475 HSDL1 hydroxysteroid dehydrogenase like 1 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 SDR12C3 short chain dehydrogenase/reductase family 12C, member 3 Short chain dehydrogenase/reductase superfamily 743 2004-12-15 2016-10-05 83693 ENSG00000103160 OTTHUMG00000137635 uc002fhk.3 AF237684 NM_031463 "CCDS54046|CCDS10942" Q3SXM5 "12153137|19027726" MGI:1919802 RGD:1308433 619067 HGNC:16475 "ENST00000219439.9|NM_031463.5" +HGNC:18572 HSDL2 hydroxysteroid dehydrogenase like 2 protein-coding gene gene with protein product Approved 9q32 09q32 SDR13C1 short chain dehydrogenase/reductase family 13C, member 1 C9orf99 chromosome 9 open reading frame 99 Short chain dehydrogenase/reductase superfamily 743 2004-11-26 2015-07-16 84263 ENSG00000119471 OTTHUMG00000020504 uc004bga.3 AY093428 NM_032303 "CCDS43864|CCDS56582" Q6YN16 "12834046|19027726" MGI:1919729 RGD:1305387 HGNC:18572 "ENST00000398805.8|NM_032303.5" +HGNC:31438 HSDL2-AS1 HSDL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q32 09q32 bA32M23.3 C9orf147 "chromosome 9 open reading frame 147|chromosome 9 putative open reading frame 147" Antisense RNAs 1987 2007-08-02 2021-03-04 2021-03-04 2021-10-06 100133204 ENSG00000230185 OTTHUMG00000020505 uc064vck.1 AK131020 NR_171777 HGNC:31438 +HGNC:5224 HSF1 heat shock transcription factor 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 HSTF1 1994-09-12 2015-09-07 3297 ENSG00000185122 OTTHUMG00000174604 uc003zbt.5 M64673 NM_005526 CCDS6419 Q00613 1871105 MGI:96238 RGD:620913 140580 470468 HGNC:5224 "ENST00000528838.6|NM_005526.4" +HGNC:5225 HSF2 heat shock transcription factor 2 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 1994-09-12 2016-10-05 3298 ENSG00000025156 OTTHUMG00000016216 uc003pyu.3 M65217 NM_004506 "CCDS47470|CCDS5124" Q03933 1871106 MGI:96239 RGD:68395 140581 HGNC:5225 "ENST00000368455.9|NM_004506.4" +HGNC:5226 HSF2BP heat shock transcription factor 2 binding protein protein-coding gene gene with protein product Approved 21q22.3 21q22.3 MEILB2 "heat shock factor 2 binding protein|meiotic localizer of BRCA2" "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 1999-08-26 2020-06-24 11077 ENSG00000160207 OTTHUMG00000086863 uc002zdi.3 AB007131 NM_007031 CCDS13697 O75031 "9651507|30760716" MGI:1921627 RGD:1565879 604554 HGNC:5226 "ENST00000291560.7|NM_007031.2" HGNC:5226 +HGNC:5227 HSF4 heat shock transcription factor 4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 CTM cataract, Marner 1998-03-17 2021-05-26 3299 ENSG00000102878 OTTHUMG00000178325 uc059voy.1 D87673 NM_001538 "CCDS42175|CCDS45510" Q9ULV5 "8972228|10488131|12089525" MGI:1347058 RGD:1310808 602438 122520 HGNC:5227 "ENST00000521374.6|NM_001374675.1" HGNC:5227 +HGNC:26862 HSF5 heat shock transcription factor 5 protein-coding gene gene with protein product Approved 17q22 17q22 FLJ40311 heat shock transcription factor family member 5 2006-04-25 2016-03-30 2018-11-16 124535 ENSG00000176160 OTTHUMG00000179078 uc002iwi.2 BC033020 NM_001080439 CCDS32690 Q4G112 MGI:2685585 RGD:1592448 HGNC:26862 "ENST00000323777.8|NM_001080439.3" +HGNC:29603 HSFX1 heat shock transcription factor family, X-linked 1 protein-coding gene gene with protein product Approved Xq28 Xq28 LW-1 2006-04-25 2015-10-02 2020-04-20 100506164 ENSG00000171116 OTTHUMG00000022626 uc022cgm.2 NM_016153 CCDS44011 Q9UBD0 15044259 HGNC:29603 "ENST00000370416.4|NM_016153.3" +HGNC:32701 HSFX2 heat shock transcription factor family, X-linked 2 protein-coding gene gene with protein product Approved Xq28 Xq28 2006-04-25 2015-10-02 2015-10-02 100130086 ENSG00000268738 OTTHUMG00000188526 uc022cgk.2 NM_001164415 CCDS48179 Q9UBD0 HGNC:32701 "ENST00000598963.3|NM_001164415.3" +HGNC:52395 HSFX3 heat shock transcription factor family, X-linked member 3 protein-coding gene gene with protein product Approved Xq28 Xq28 2017-03-21 2017-03-21 2017-03-21 101928917 ENSG00000283697 OTTHUMG00000022623 NM_001323079 CCDS83499 A0A1B0GWH4 HGNC:52395 "ENST00000431993.4|NM_001323079.3" +HGNC:52398 HSFX4 heat shock transcription factor family, X-linked member 4 protein-coding gene gene with protein product Approved Xq28 Xq28 2017-03-21 2017-03-21 101927685 ENSG00000283463 OTTHUMG00000034359 NM_001351114 CCDS87786 A0A1B0GTS1 RGD:2318522 HGNC:52398 "ENST00000457775.3|NM_001351114.2" +HGNC:18568 HSFY1 heat shock transcription factor Y-linked 1 protein-coding gene gene with protein product Approved Yq11.222 Yq11.222 HSF2L HSFY heat shock transcription factor, Y-linked 2002-05-22 2004-05-26 2018-04-26 2018-04-26 86614 ENSG00000172468 OTTHUMG00000041980 uc004ftr.4 AF332226 NM_152584 "CCDS14790|CCDS35475" Q96LI6 MGI:1918316 400029 HGNC:18568 "ENST00000307393.3|NM_033108.3" +HGNC:1846 HSFY1P1 HSFY1 pseudogene 1 pseudogene pseudogene Approved 22q11.1 22q11.1 "HSFYP1|HSFYL1" CECR8 "cat eye syndrome chromosome region, candidate 8|cat eye syndrome chromosome region, candidate 8 (non-protein coding)" 2000-01-31 2010-08-04 2018-04-26 2018-04-26 27437 ENSG00000229027 OTTHUMG00000143727 AY026053 NR_003607 11381032 PGOHUM00000246384 HGNC:1846 +HGNC:23950 HSFY2 heat shock transcription factor Y-linked 2 protein-coding gene gene with protein product Approved Yq11.222 Yq11.222 FLJ25453 2004-05-24 2018-04-26 2018-04-26 159119 ENSG00000169953 OTTHUMG00000041947 uc004ftw.3 AK058182 NM_153716 "CCDS35476|CCDS14791" Q96LI6 12815422 MGI:1918316 RGD:1311885 HGNC:23950 "ENST00000304790.3|NM_153716.2" +HGNC:37119 HSFY3P heat shock transcription factor Y-linked 3, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 HSFYP2 heat shock transcription factor, Y-linked-like pseudogene 2 2009-07-07 2009-12-16 2018-04-26 2018-04-26 442479 ENSG00000227289 OTTHUMG00000036161 NG_012371 PGOHUM00000233662 HGNC:37119 +HGNC:37721 HSFY4P heat shock transcription factor Y-linked 4, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-02-05 2018-04-26 2018-04-26 643987 ENSG00000224482 OTTHUMG00000036537 NG_016562 PGOHUM00000233790 HGNC:37721 +HGNC:38789 HSFY5P heat shock transcription factor Y-linked 5, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-08-04 2018-04-26 2018-04-26 106478934 ENSG00000232475 OTTHUMG00000043599 NG_043611 PGOHUM00000233808 HGNC:38789 +HGNC:38790 HSFY6P heat shock transcription factor Y-linked 6, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-08-04 2018-04-26 2018-04-26 106480722 ENSG00000224169 OTTHUMG00000044993 NG_043585 PGOHUM00000233826 HGNC:38790 +HGNC:38791 HSFY7P heat shock transcription factor Y-linked 7, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-08-04 2018-04-26 2018-04-26 106478935 ENSG00000228571 OTTHUMG00000043851 NG_043619 PGOHUM00000234028 HGNC:38791 +HGNC:38792 HSFY8P heat shock transcription factor Y-linked 8, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-08-04 2018-04-26 2018-04-26 106480723 ENSG00000233156 OTTHUMG00000045277 NG_043595 PGOHUM00000234096 HGNC:38792 +HGNC:24920 HSH2D hematopoietic SH2 domain containing protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "ALX|HSH2|FLJ14886" SH2 domain containing 741 2004-03-31 2016-10-11 84941 ENSG00000196684 OTTHUMG00000182256 uc032hot.2 AK027792 NM_032855 CCDS74304 Q96JZ2 11700021 MGI:2676364 RGD:2321939 608349 HGNC:24920 "ENST00000613986.4|NM_001382417.1" +HGNC:5253 HSP90AA1 heat shock protein 90 alpha family class A member 1 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "Hsp89|Hsp90|FLJ31884|HSP90N" "HSPC1|HSPCA" "heat shock 90kD protein 1, alpha|heat shock 90kDa protein 1, alpha|heat shock protein 90kDa alpha (cytosolic), class A member 1" Heat shock 90kDa proteins 586 1990-06-27 2006-02-24 2016-06-22 2016-10-11 3320 ENSG00000080824 OTTHUMG00000171752 uc001yku.5 M27024 NM_005348 "CCDS9967|CCDS32160" P07900 "2527334|16269234" MGI:96250 RGD:631409 HSP90AA1 140571 ligandId:7752 HGNC:5253 "ENST00000216281.13|NM_005348.4" +HGNC:5256 HSP90AA2P heat shock protein 90 alpha family class A member 2, pseudogene pseudogene pseudogene Approved 11p14.1 11p14.1 "HSPCA|HSP90ALPHA" "HSPCAL3|HSP90AA2" "heat shock 90kD protein 1, alpha-like 3|heat shock 90kDa protein 1, alpha-like 3|heat shock protein 90kDa alpha (cytosolic), class A member 2|heat shock protein 90kDa alpha (cytosolic), class A member 2, pseudogene" 1991-09-17 2014-10-06 2016-06-22 2021-10-07 3324 ENSG00000224411 OTTHUMG00000166183 NG_005856 Q14568 "1740332|16269234" 140575 HGNC:5256 +HGNC:5254 HSP90AA3P heat shock protein 90 alpha family class A member 3, pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 HSPCAL1 "heat shock 90kD protein 1, alpha-like 1|heat shock 90kDa protein 1, alpha-like 1|heat shock protein 90kDa alpha (cytosolic), class A member 3, pseudogene" Heat shock 90kDa proteins 586 1991-09-17 2006-02-24 2016-06-22 2020-04-07 3322 ENSG00000231434 OTTHUMG00000019634 NG_005218 "1740332|16269234" PGOHUM00000296599 HGNC:5254 +HGNC:5255 HSP90AA4P heat shock protein 90 alpha family class A member 4, pseudogene pseudogene pseudogene Approved 4q35.2 04q35.2 HSPCAL2 "heat shock 90kD protein 1, alpha-like 2|heat shock 90kDa protein 1, alpha-like 2|heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene" 1991-09-17 2006-02-24 2016-06-22 2016-06-22 3323 ENSG00000205100 OTTHUMG00000160204 NG_003014 Q58FG1 "1740332|16269234" HGNC:5255 +HGNC:32535 HSP90AA5P heat shock protein 90 alpha family class A member 5, pseudogene pseudogene pseudogene Approved 3q27.1 03q27.1 heat shock protein 90kDa alpha (cytosolic), class A member 5, pseudogene 2006-02-24 2016-06-22 2020-04-20 730211 ENSG00000205955 OTTHUMG00000156859 AY956761 NG_005673 Q58FG0 16269234 HGNC:32535 +HGNC:32536 HSP90AA6P heat shock protein 90 alpha family class A member 6, pseudogene pseudogene pseudogene Approved 4q33 04q33 heat shock protein 90kDa alpha (cytosolic), class A member 6, pseudogene 2006-02-24 2016-06-22 2017-10-26 441051 ENSG00000181359 OTTHUMG00000160882 AY956762 NR_036751 16269234 PGOHUM00000300072 HGNC:32536 +HGNC:5258 HSP90AB1 heat shock protein 90 alpha family class B member 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "HSPC2|HSPCB" "heat shock 90kD protein 1, beta|heat shock 90kDa protein 1, beta|heat shock protein 90kDa alpha (cytosolic), class B member 1" Heat shock 90kDa proteins 586 1990-06-27 2006-02-24 2016-06-22 2016-10-05 3326 ENSG00000096384 OTTHUMG00000014761 uc031sor.1 AF275719 NM_007355 CCDS4909 P08238 "2768249|16269234" MGI:96247 RGD:1303075 HSP90AB1 140572 objectId:2907 HGNC:5258 "ENST00000371646.10|NM_007355.4" +HGNC:32537 HSP90AB2P heat shock protein 90 alpha family class B member 2, pseudogene pseudogene pseudogene Approved 4p15.33 04p15.33 HSP90BB heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene 2006-02-24 2016-06-22 2016-06-22 391634 ENSG00000205940 OTTHUMG00000160089 AY956763 NR_003132 Q58FF8 16269234 PGOHUM00000250761 HGNC:32537 +HGNC:5259 HSP90AB3P heat shock protein 90 alpha family class B member 3, pseudogene pseudogene pseudogene Approved 4q22.1 04q22.1 HSPCP1 "heat shock 90kD protein 1, beta pseudogene 1|heat shock 90kDa protein 1, beta pseudogene 1|heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene" 1996-03-14 2006-02-24 2016-06-22 2017-10-26 3327 ENSG00000183199 OTTHUMG00000160981 AY956764 NG_003015 Q58FF7 "8288256|16269234" PGOHUM00000300289 HGNC:5259 +HGNC:32538 HSP90AB4P heat shock protein 90 alpha family class B member 4, pseudogene pseudogene pseudogene Approved 15q21.3 15q21.3 heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene 2006-02-24 2016-06-22 2017-10-26 664618 ENSG00000282100 OTTHUMG00000191302 AY956765 NR_002927 Q58FF6 16269234 PGOHUM00000292962 HGNC:32538 +HGNC:32539 HSP90AB5P heat shock protein 90 alpha family class B member 5, pseudogene pseudogene pseudogene Approved 3p13-p12.3 03p13-p12.3 heat shock protein 90kDa alpha (cytosolic), class B member 5, pseudogene 2006-02-24 2016-06-22 2016-06-22 442083 AY956766 NG_005680 16269234 HGNC:32539 +HGNC:32540 HSP90AB6P heat shock protein 90 alpha family class B member 6, pseudogene pseudogene pseudogene Approved 13q32.1 13q32.1 heat shock protein 90kDa alpha (cytosolic), class B member 6, pseudogene 2006-02-24 2016-06-22 2016-06-22 541611 ENSG00000235137 OTTHUMG00000017233 AY956767 NG_005682 16269234 PGOHUM00000248469 HGNC:32540 +HGNC:44701 HSP90AB7P heat shock protein 90 alpha family class B member 7, pseudogene pseudogene pseudogene Approved 10p14 10p14 heat shock protein 90kDa alpha (cytosolic), class B member 7, pseudogene 2012-12-05 2016-06-22 2016-06-22 644495 ENSG00000235838 OTTHUMG00000017653 NG_022139 PGOHUM00000238347 HGNC:44701 +HGNC:12028 HSP90B1 heat shock protein 90 beta family member 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "GP96|GRP94" endoplasmin TRA1 "tumor rejection antigen (gp96) 1|heat shock protein 90kDa beta (Grp94), member 1" "Heat shock 90kDa proteins|MicroRNA protein coding host genes" "586|1691" 1991-07-03 2006-02-24 2016-06-22 2016-10-11 7184 ENSG00000166598 OTTHUMG00000170118 uc001tkb.3 AY040226 NM_003299 CCDS9094 P14625 16269234 MGI:98817 RGD:1310482 191175 objectId:2904 HGNC:12028 "ENST00000299767.10|NM_003299.3" +HGNC:12099 HSP90B2P heat shock protein 90 beta family member 2, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 "GRP94P1|GRP94b" "TRAP1|TRA1P1|HSPCP2" "tumor rejection antigen (gp96) pseudogene 1|tumor rejection antigen (gp96) 1 pseudogene 1|heat shock protein 90kDa beta (Grp94), member 2, pseudogene" 1991-07-10 2006-02-24 2016-06-22 2016-10-11 7190 ENSG00000259706 OTTHUMG00000171904 AY956768 NR_073383 Q58FF3 16269234 MGI:98817 HGNC:12099 +HGNC:12100 HSP90B3P heat shock protein 90 beta family member 3, pseudogene pseudogene pseudogene Approved 1p22.1 01p22.1 GRP94c "TRAP2|TRA1P2" "tumor rejection antigen (gp96) pseudogene 2|tumor rejection antigen (gp96) 1 pseudogene 2|heat shock protein 90kDa beta (Grp94), member 3, pseudogene" 1991-07-24 2006-02-24 2016-06-22 2016-10-05 343477 ENSG00000203914 OTTHUMG00000010095 AY956769 XR_000203 16269234 HGNC:12100 +HGNC:5232 HSPA1A heat shock protein family A (Hsp70) member 1A protein-coding gene gene with protein product Approved 6p21.33 06p21.33 HSP70-1 HSPA1 "heat shock 70kD protein 1A|heat shock 70kDa protein 1A" "Heat shock 70kDa proteins|TIM23 complex" "583|1552" 2001-06-22 2015-11-19 2016-10-05 3303 ENSG00000204389 OTTHUMG00000031201 uc003nxj.4 BC002453 NM_005345 CCDS34414 P0DMV8 MGI:96244 RGD:1593284 140550 470470 objectId:2539 HGNC:5232 "ENST00000375651.7|NM_005345.6" +HGNC:5233 HSPA1B heat shock protein family A (Hsp70) member 1B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 HSP70-2 "heat shock 70kD protein 1B|heat shock 70kDa protein 1B" "Heat shock 70kDa proteins|TIM23 complex" "583|1552" 1995-08-11 2015-11-19 2016-10-05 3304 ENSG00000204388 OTTHUMG00000031202 uc003nxk.3 NM_005346 CCDS34415 P0DMV9 1700760 MGI:99517 RGD:2840 603012 objectId:2540 HGNC:5233 "ENST00000375650.5|NM_005346.6" +HGNC:5234 HSPA1L heat shock protein family A (Hsp70) member 1 like protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "HSP70-HOM|hum70t" "heat shock 70kD protein-like 1|heat shock 70kDa protein 1-like" "Heat shock 70kDa proteins|TIM23 complex" "583|1552" 1989-05-12 2015-11-19 2016-10-05 3305 ENSG00000204390 OTTHUMG00000031208 uc003nxh.4 D85730 NM_005527 CCDS34413 P34931 "9685725|9349405" MGI:96231 RGD:1595925 140559 objectId:2989 HGNC:5234 "ENST00000375654.5|NM_005527.4" +HGNC:5235 HSPA2 heat shock protein family A (Hsp70) member 2 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "heat shock 70kD protein 2|heat shock 70kDa protein 2" Heat shock 70kDa proteins 583 2001-06-22 2015-11-19 2016-10-05 3306 ENSG00000126803 OTTHUMG00000141311 uc001xhj.4 "L26336|BC001752" NM_001387931 CCDS9766 P54652 MGI:96243 RGD:620664 140560 objectId:2541 HGNC:5235 "ENST00000247207.7|NM_021979.4" +HGNC:55433 HSPA2-AS1 HSPA2 and ZBTB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.3 14q23.3 Antisense RNAs 1987 2021-01-08 2021-01-08 102723809 ENSG00000259116 NR_110550 +HGNC:5237 HSPA4 heat shock protein family A (Hsp70) member 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "HS24/P52|HSPH2" hsp70 RY "heat shock 70kD protein 4|heat shock 70kDa protein 4" Heat shock 70kDa proteins 583 1991-07-26 2015-11-19 2015-11-19 3308 ENSG00000170606 OTTHUMG00000129012 uc003kyj.4 AB023420 "NM_002154|NM_198431" CCDS4166 P34932 8335910 MGI:1342292 RGD:628878 601113 470472 HGNC:5237 "ENST00000304858.7|NM_002154.4" +HGNC:17041 HSPA4L heat shock protein family A (Hsp70) member 4 like protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "APG-1|Osp94|HSPH3" heat shock 70kDa protein 4-like Heat shock 70kDa proteins 583 2004-11-26 2015-11-19 2016-10-05 22824 ENSG00000164070 OTTHUMG00000133302 uc003ifm.4 AB023421 NM_014278 "CCDS82953|CCDS3734" O95757 10524232 MGI:107422 RGD:1306528 619077 HGNC:17041 "ENST00000296464.9|NM_014278.4" +HGNC:5238 HSPA5 heat shock protein family A (Hsp70) member 5 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 BiP glucose-regulated protein, 78kDa GRP78 "heat shock 70kD protein 5 (glucose-regulated protein, 78kD)|heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)" Heat shock 70kDa proteins 583 1991-07-26 2015-11-19 2015-11-19 3309 ENSG00000044574 OTTHUMG00000020672 uc004bpn.4 NM_005347 CCDS6863 P11021 MGI:95835 RGD:2843 138120 objectId:3193 HGNC:5238 "ENST00000324460.7|NM_005347.5" +HGNC:55645 HSPA5-DT HSPA5 divergent transcript non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 Divergent transcripts 1990 2021-06-25 2021-06-25 107987127 ENSG00000239705 +HGNC:54532 HSPA5P1 HSPA5 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 2019-10-11 2020-01-21 400750 ENSG00000215895 NG_022776 HGNC:54532 +HGNC:5239 HSPA6 heat shock protein family A (Hsp70) member 6 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 HSP70B' "heat shock 70kD protein 6 (HSP70B')|heat shock 70kDa protein 6 (HSP70B')" Heat shock 70kDa proteins 583 1991-07-26 2015-11-19 2015-11-19 3310 ENSG00000173110 OTTHUMG00000034461 uc001gaq.4 NM_002155 CCDS1231 P17066 1346391 140555 objectId:2542 HGNC:5239 "ENST00000309758.6|NM_002155.5" +HGNC:5240 HSPA7 heat shock protein family A (Hsp70) member 7 (pseudogene) pseudogene pseudogene Approved 1q23.3 01q23.3 HSP70B "heat shock 70kD protein 7 (HSP70B)|heat shock 70kDa protein 7 (HSP70B)|heat shock protein family A (Hsp70) member 7" Heat shock 70kDa proteins 583 1991-07-26 2020-02-11 2020-02-11 3311 ENSG00000225217 OTTHUMG00000074098 NR_024151 P48741 "1346391|11072087" 140556 PGOHUM00000245047 HGNC:5240 +HGNC:5241 HSPA8 heat shock protein family A (Hsp70) member 8 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 "HSC71|HSC70|HSP73" HSPA10 "heat shock 70kD protein 8|heat shock 70kDa protein 8" "Heat shock 70kDa proteins|Spliceosomal C complex|Spliceosomal P complex" "583|1510|1516" 1995-05-08 2015-11-19 2015-11-19 3312 ENSG00000109971 OTTHUMG00000166030 uc001pyo.5 Y00371 NM_006597 "CCDS8440|CCDS44754" P11142 "8530083|3037489" MGI:105384 RGD:621725 600816 470474 objectId:2543 HGNC:5241 "ENST00000534624.6|NM_006597.6" +HGNC:5245 HSPA8P1 heat shock protein family A (Hsp70) member 8 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 HSPAP1 "heat shock 70kD protein pseudogene 1|heat shock 70kDa protein pseudogene 1|heat shock 70kDa protein 8 pseudogene 1" 2001-06-22 2010-02-04 2015-11-19 2015-11-19 3314 ENSG00000234176 OTTHUMG00000022322 M12119 NG_001144 3001086 PGOHUM00000241524 HGNC:5245 +HGNC:39806 HSPA8P2 heat shock protein family A (Hsp70) member 8 pseudogene 2 pseudogene pseudogene Approved 13q31.3 13q31.3 heat shock 70kDa protein 8 pseudogene 2 2011-03-29 2015-11-19 2015-11-19 100420133 NG_024873 PGOHUM00000248459 HGNC:39806 +HGNC:44918 HSPA8P3 heat shock protein family A (Hsp70) member 8 pseudogene 3 pseudogene pseudogene Approved 10p12.1 10p12.1 heat shock 70kDa protein 8 pseudogene 3 2012-12-19 2015-11-19 2015-11-19 100420143 ENSG00000234788 OTTHUMG00000017846 NG_025479 PGOHUM00000257785 HGNC:44918 +HGNC:44919 HSPA8P4 heat shock protein family A (Hsp70) member 8 pseudogene 4 pseudogene pseudogene Approved 5q23.3 05q23.3 heat shock 70kDa protein 8 pseudogene 4 2012-12-19 2015-11-19 2015-11-19 100420028 ENSG00000248610 OTTHUMG00000163044 NG_024717 PGOHUM00000235751 HGNC:44919 +HGNC:44920 HSPA8P5 heat shock protein family A (Hsp70) member 8 pseudogene 5 pseudogene pseudogene Approved 12p13.32 12p13.32 heat shock 70kDa protein 8 pseudogene 5 2012-12-19 2015-11-19 2015-11-19 399988 ENSG00000256356 OTTHUMG00000168122 NG_021701 PGOHUM00000239629 HGNC:44920 +HGNC:44921 HSPA8P6 heat shock protein family A (Hsp70) member 8 pseudogene 6 pseudogene pseudogene Approved 2q34 02q34 heat shock 70kDa protein 8 pseudogene 6 2012-12-19 2015-11-19 2015-11-19 130195 ENSG00000235864 OTTHUMG00000154705 NG_021552 PGOHUM00000240513 HGNC:44921 +HGNC:44922 HSPA8P7 heat shock protein family A (Hsp70) member 8 pseudogene 7 pseudogene pseudogene Approved Xq23 Xq23 heat shock 70kDa protein 8 pseudogene 7 2012-12-19 2015-11-19 2015-11-19 100420080 ENSG00000224773 OTTHUMG00000022224 NG_026750 PGOHUM00000241502 HGNC:44922 +HGNC:44923 HSPA8P8 heat shock protein family A (Hsp70) member 8 pseudogene 8 pseudogene pseudogene Approved 7p21.3 07p21.3 heat shock 70kDa protein 8 pseudogene 8 2012-12-19 2015-11-19 2015-11-19 100287551 ENSG00000229091 OTTHUMG00000151920 NG_005513 PGOHUM00000233127 HGNC:44923 +HGNC:44924 HSPA8P9 heat shock protein family A (Hsp70) member 8 pseudogene 9 pseudogene pseudogene Approved 3q22.3 03q22.3 heat shock 70kDa protein 8 pseudogene 9 2012-12-19 2015-11-19 2015-11-19 402143 ENSG00000241478 OTTHUMG00000159761 NG_022275 PGOHUM00000238209 HGNC:44924 +HGNC:44925 HSPA8P10 heat shock protein family A (Hsp70) member 8 pseudogene 10 pseudogene pseudogene Approved 2q37.2 02q37.2 heat shock 70kDa protein 8 pseudogene 10 2012-12-19 2015-11-19 2015-11-19 100420004 NG_023674 PGOHUM00000240564 HGNC:44925 +HGNC:44926 HSPA8P11 heat shock protein family A (Hsp70) member 8 pseudogene 11 pseudogene pseudogene Approved 8p12 08p12 heat shock 70kDa protein 8 pseudogene 11 2012-12-19 2015-11-19 2015-11-19 392209 ENSG00000248159 OTTHUMG00000160402 NG_022415 PGOHUM00000249608 HGNC:44926 +HGNC:44927 HSPA8P12 heat shock protein family A (Hsp70) member 8 pseudogene 12 pseudogene pseudogene Approved 4q35.2 04q35.2 heat shock 70kDa protein 8 pseudogene 12 2012-12-19 2015-11-19 2015-11-19 100420038 NG_025278 PGOHUM00000259963 HGNC:44927 +HGNC:44928 HSPA8P13 heat shock protein family A (Hsp70) member 8 pseudogene 13 pseudogene pseudogene Approved 8q11.1 08q11.1 heat shock 70kDa protein 8 pseudogene 13 2012-12-19 2015-11-19 2015-11-19 106480803 ENSG00000253425 OTTHUMG00000164121 NG_044191 PGOHUM00000249645 HGNC:44928 +HGNC:44929 HSPA8P14 heat shock protein family A (Hsp70) member 8 pseudogene 14 pseudogene pseudogene Approved 12q24.12 12q24.12 heat shock 70kDa protein 8 pseudogene 14 2012-12-19 2015-11-19 2017-08-03 642580 ENSG00000257539 OTTHUMG00000169549 NG_028771 PGOHUM00000257951 HGNC:44929 +HGNC:44930 HSPA8P15 heat shock protein family A (Hsp70) member 8 pseudogene 15 pseudogene pseudogene Approved 6q25.1 06q25.1 heat shock 70kDa protein 8 pseudogene 15 2012-12-19 2015-11-19 2015-11-19 100420051 ENSG00000219395 OTTHUMG00000015835 NG_025882 PGOHUM00000258210 HGNC:44930 +HGNC:44931 HSPA8P16 heat shock protein family A (Hsp70) member 8 pseudogene 16 pseudogene pseudogene Approved 7q21.11 07q21.11 heat shock 70kDa protein 8 pseudogene 16 2012-12-19 2015-11-19 2015-11-19 100289643 ENSG00000224059 OTTHUMG00000154604 NG_022569 PGOHUM00000258295 HGNC:44931 +HGNC:44932 HSPA8P17 heat shock protein family A (Hsp70) member 8 pseudogene 17 pseudogene pseudogene Approved 9p21.1 09p21.1 heat shock 70kDa protein 8 pseudogene 17 2012-12-19 2015-11-19 2015-11-19 100533658 ENSG00000228557 OTTHUMG00000019733 NG_028723 PGOHUM00000258387 HGNC:44932 +HGNC:44933 HSPA8P18 heat shock protein family A (Hsp70) member 8 pseudogene 18 pseudogene pseudogene Approved 3p24.3 03p24.3 heat shock 70kDa protein 8 pseudogene 18 2012-12-19 2015-11-19 2015-11-19 402125 ENSG00000232953 OTTHUMG00000150506 NG_032789 PGOHUM00000258150 HGNC:44933 +HGNC:44935 HSPA8P19 heat shock protein family A (Hsp70) member pseudogene 19 pseudogene pseudogene Approved 3q22.1 03q22.1 heat shock 70kDa protein 8 pseudogene 19 2012-12-19 2015-11-19 2015-11-19 100420049 ENSG00000251614 OTTHUMG00000159927 NG_025743 PGOHUM00000258162 HGNC:44935 +HGNC:44936 HSPA8P20 heat shock protein family A (Hsp70) member 8 pseudogene 20 pseudogene pseudogene Approved Xq25 Xq25 heat shock 70kDa protein 8 pseudogene 20 2012-12-19 2015-11-19 2015-11-19 100129231 ENSG00000234564 OTTHUMG00000022341 NG_023274 PGOHUM00000241529 HGNC:44936 +HGNC:5244 HSPA9 heat shock protein family A (Hsp70) member 9 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "GRP75|PBP74|mot-2|mthsp75" "mortalin2|mortalin|75 kDa glucose-regulated protein|Stress-70 protein, mitochondrial" HSPA9B "heat shock 70kDa protein 9B (mortalin-2)|heat shock 70kDa protein 9 (mortalin)" "Heat shock 70kDa proteins|Small nucleolar RNA protein coding host genes" "583|1835" 1997-09-12 2006-10-31 2015-11-19 2021-04-13 3313 ENSG00000113013 OTTHUMG00000129206 uc003ldf.4 L11066 NM_004134 CCDS4208 P38646 7684501 MGI:96245 RGD:1311806 LRG_1344|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1344.xml 600548 451821 HGNC:5244 "ENST00000297185.9|NM_004134.7" HGNC:5244 +HGNC:24915 HSPA9P1 heat shock protein family A (Hsp70) member 9 pseudogene 1 pseudogene pseudogene Approved 2q36.1 02q36.1 "HSPA9BP|HSPA9P" "heat shock 70kDa protein 9B pseudogene|heat shock 70kDa protein 9 pseudogene|heat shock 70kDa protein 9 pseudogene 1" 2004-03-26 2010-01-08 2015-11-19 2016-10-05 266724 ENSG00000226666 OTTHUMG00000153407 NG_002380 9847074 HGNC:24915 +HGNC:31733 HSPA9P2 heat shock protein family A (Hsp70) member 9 pseudogene 2 pseudogene pseudogene Approved 18q12.1 18q12.1 heat shock 70kDa protein 9 pseudogene 2 2010-06-17 2015-11-19 2015-11-19 100873903 NG_032192 PGOHUM00000234911 HGNC:31733 +HGNC:19022 HSPA12A heat shock protein family A (Hsp70) member 12A protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ13874|KIAA0417" "heat shock 70kD protein 12A|heat shock 70kDa protein 12A" Heat shock 70kDa proteins 583 2002-08-06 2015-11-19 2015-11-19 259217 ENSG00000165868 OTTHUMG00000019107 uc001lct.3 AB007877 NM_025015 "CCDS41569|CCDS81511" O43301 12552099 MGI:1920692 RGD:1305531 610701 HGNC:19022 "ENST00000369209.8|NM_025015.3" +HGNC:55721 HSPA12A-AS1 HSPA12A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.3 10q25.3 Antisense RNAs 1987 2021-07-13 2021-07-13 105378499 ENSG00000232767 XR_007062300 +HGNC:16193 HSPA12B heat shock protein family A (Hsp70) member 12B protein-coding gene gene with protein product Approved 20p13 20p13 dJ1009E24.2 C20orf60 "chromosome 20 open reading frame 60|heat shock 70kD protein 12B" Heat shock 70kDa proteins 583 2001-07-17 2003-04-10 2015-11-19 2015-11-19 116835 ENSG00000132622 OTTHUMG00000031755 uc002wjd.4 AK056712 NM_052970 "CCDS82596|CCDS13061" Q96MM6 12552099 MGI:1919880 RGD:1312004 610702 HGNC:16193 "ENST00000254963.7|NM_052970.5" +HGNC:11375 HSPA13 heat shock protein family A (Hsp70) member 13 protein-coding gene gene with protein product Approved 21q11.2 21q11.2 STCH "stress 70 protein chaperone, microsome-associated, 60kD|stress 70 protein chaperone, microsome-associated, 60kDa|heat shock protein 70kDa family, member 13" Heat shock 70kDa proteins 583 1997-03-21 2008-06-17 2015-11-19 2016-10-05 6782 ENSG00000155304 OTTHUMG00000074261 uc002yjt.4 NM_006948 CCDS13567 P48723 8825657 MGI:1309463 RGD:3775 601100 HGNC:11375 "ENST00000285667.4|NM_006948.5" +HGNC:29526 HSPA14 heat shock protein family A (Hsp70) member 14 protein-coding gene gene with protein product Approved 10p13 10p13 "HSP70-4|HSP70L1" heat shock 70kDa protein 14 Heat shock 70kDa proteins 583 2004-04-20 2015-11-19 2019-02-21 51182 ENSG00000187522 OTTHUMG00000191882 uc001inf.5 AF112210 NM_016299 CCDS7103 Q0VDF9 21208456 MGI:1354164 RGD:1303296 610369 HGNC:29526 "ENST00000378372.8|NM_016299.4" +HGNC:5246 HSPB1 heat shock protein family B (small) member 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "HSP27|HSP28|Hs.76067|Hsp25|CMT2F" "heat shock 27kD protein 1|heat shock 27kDa protein 1" Small heat shock proteins 585 1991-07-09 2015-11-19 2021-04-13 3315 ENSG00000106211 OTTHUMG00000023228 uc003uew.4 X54079 NM_001540 CCDS5583 P04792 "2243808|9344682" MGI:96240 RGD:61306 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_248|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_248.xml" 602195 122526 HGNC:5246 "ENST00000248553.7|NM_001540.5" HGNC:5246 +HGNC:5251 HSPB1P1 heat shock protein family B (small) member 1 pseudogene 1 pseudogene pseudogene Approved 9q21.13 09q21.13 HSPBL2 "heat shock 27kD protein-like 2|heat shock 27kDa protein-like 2|heat shock 27kDa protein-like 2 pseudogene|heat shock 27kDa protein 1 pseudogene 1" 1989-05-23 2010-10-19 2015-11-19 2015-11-19 653553 ENSG00000236060 OTTHUMG00000153719 NG_013115 "2538929|12838549" PGOHUM00000236206 HGNC:5251 +HGNC:5252 HSPB1P2 heat shock protein family B (small) member 1 pseudogene 2 pseudogene pseudogene Approved Xp11.23 Xp11.23 heat shock 27kDa protein 1 (HSPB1) pseudogene HSPBL3 "heat shock 27kD protein-like 3|heat shock 27kDa protein-like 3|heat shock 27kDa protein-like 3 pseudogene|heat shock 27kDa protein 1 pseudogene 2" 1989-05-23 2010-10-19 2015-11-19 2020-04-20 653364 ENSG00000230216 OTTHUMG00000024140 NG_008236 2538929 PGOHUM00000241290 HGNC:5252 +HGNC:5247 HSPB2 heat shock protein family B (small) member 2 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "Hs.78846|MKBP" "heat shock 27kD protein 2|heat shock 27kDa protein 2" Small heat shock proteins 585 1997-12-23 2015-11-19 2015-11-19 3316 ENSG00000170276 OTTHUMG00000166886 uc001pmg.3 U75898 NM_001541 CCDS8352 Q16082 "9344664|9490724" MGI:1916503 RGD:70914 602179 HGNC:5247 "ENST00000304298.4|NM_001541.4" +HGNC:41996 HSPB2-C11orf52 HSPB2-C11orf52 readthrough (NMD candidate) other readthrough Approved 11q23.1 11q23.1 2011-05-31 2013-05-09 2014-11-18 100528019 ENSG00000254445 OTTHUMG00000166887 uc058hgl.1 NR_037651.1 HGNC:41996 +HGNC:5248 HSPB3 heat shock protein family B (small) member 3 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 HSPL27 "heat shock 27kD protein 3|heat shock 27kDa protein 3" Small heat shock proteins 585 1999-01-15 2015-11-19 2015-11-19 8988 ENSG00000169271 OTTHUMG00000096995 uc003jph.2 Y17782 NM_006308 CCDS3961 Q12988 "8972725|9858786" MGI:1928479 RGD:68345 604624 227387 HGNC:5248 "ENST00000302005.3|NM_006308.3" HGNC:5248 +HGNC:26511 HSPB6 heat shock protein family B (small) member 6 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ32389|Hsp20|PPP1R91" protein phosphatase 1, regulatory subunit 91 heat shock protein, alpha-crystallin-related, B6 "Small heat shock proteins|Protein phosphatase 1 regulatory subunits" "585|694" 2004-05-12 2015-11-25 2016-10-05 126393 ENSG00000004776 OTTHUMG00000048122 uc060xio.1 AJ278121 NM_144617 CCDS12475 O14558 "12820654|14717697" MGI:2685325 RGD:621554 610695 HGNC:26511 "ENST00000004982.6|NM_144617.3" +HGNC:5249 HSPB7 heat shock protein family B (small) member 7 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 cvHSP "heat shock 27kD protein family, member 7 (cardiovascular)|heat shock 27kDa protein family, member 7 (cardiovascular)" Small heat shock proteins 585 2000-01-26 2015-11-19 2015-11-23 27129 ENSG00000173641 OTTHUMG00000009531 uc001axo.2 AF155908 NM_014424 "CCDS30611|CCDS85934|CCDS85931|CCDS85932|CCDS85933" Q9UBY9 10593960 MGI:1352494 RGD:62021 610692 470478 HGNC:5249 "ENST00000311890.14|NM_014424.5" +HGNC:30171 HSPB8 heat shock protein family B (small) member 8 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "H11|E2IG1|HSP22|CMT2L" "heat shock 27kDa protein 8|heat shock 22kDa protein 8" Small heat shock proteins 585 2004-01-29 2015-11-19 2021-12-06 26353 ENSG00000152137 OTTHUMG00000168932 uc001txb.4 AF191017 NM_014365 CCDS9189 Q9UJY1 "10833516|11085516" MGI:2135756 RGD:71003 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_249|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_249.xml" 608014 122532 HGNC:30171 "ENST00000281938.7|NM_014365.3" HGNC:30171 +HGNC:30589 HSPB9 heat shock protein family B (small) member 9 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 CT51 cancer/testis antigen 51 heat shock protein, alpha-crystallin-related, B9 Small heat shock proteins 585 2004-05-12 2015-11-19 2015-11-19 94086 ENSG00000260325 OTTHUMG00000133500 uc002hyy.3 AJ302068 NM_033194 CCDS11418 Q9BQS6 "11470154|12820654" MGI:1922732 RGD:1309122 608344 HGNC:30589 "ENST00000565659.2|NM_033194.3" +HGNC:25019 HSPB11 heat shock protein family B (small) member 11 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "HSPCO34|PP25|IFT25|FAP232" intraflagellar transport 25 homolog (Chlamydomonas) C1orf41 "chromosome 1 open reading frame 41|heat shock protein family B (small), member 11" "Small heat shock proteins|IFT-B1 complex" "585|1980" 2004-06-24 2008-06-24 2015-11-19 2020-01-28 51668 ENSG00000081870 OTTHUMG00000008408 uc001cwh.4 AF100747 NM_016126 CCDS41341 Q9Y547 "11042152|19253336" MGI:1920188 RGD:1596413 470476 HGNC:25019 "ENST00000194214.10|NM_016126.4" +HGNC:16389 HSPBAP1 HSPB1 associated protein 1 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "FLJ22623|PASS1" HSPB (heat shock 27kDa) associated protein 1 Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2001-08-28 2016-01-26 2016-01-26 79663 ENSG00000169087 OTTHUMG00000159550 uc003efu.3 AF400663 NM_024610 CCDS3017 Q96EW2 11978969 MGI:1913917 RGD:620870 608263 122538 HGNC:16389 "ENST00000306103.3|NM_024610.6" +HGNC:24989 HSPBP1 HSPA (Hsp70) binding protein 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 FES1 hsp70 interacting protein HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 Armadillo like helical domain containing 1492 2008-12-04 2016-06-21 2020-05-04 23640 ENSG00000133265 OTTHUMG00000180705 uc002qkd.4 NM_012267 CCDS33111 Q9NZL4 "10786638|9830037" MGI:1913495 RGD:628677 612939 HGNC:24989 "ENST00000433386.7|NM_012267.5" +HGNC:5261 HSPD1 heat shock protein family D (Hsp60) member 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "GroEL|HSP60" SPG13 "heat shock 60kD protein 1 (chaperonin)|spastic paraplegia 13 (autosomal dominant)|heat shock 60kDa protein 1 (chaperonin)" Chaperonins 587 1991-07-19 2015-11-19 2015-11-19 3329 ENSG00000144381 OTTHUMG00000154463 uc002uuk.4 M34664 NM_002156 CCDS33357 P10809 "1980192|11898127" MGI:96242 RGD:621314 118190 122542 ligandId:4953 HGNC:5261 "ENST00000388968.8|NM_002156.5" HGNC:5261 +HGNC:35133 HSPD1P1 heat shock protein family D (Hsp60) member 1 pseudogene 1 pseudogene pseudogene Approved 5p14.3 05p14.3 HSPD1-2P heat shock 60kDa protein 1 (chaperonin) pseudogene 1 2008-09-22 2015-11-19 2015-11-19 643300 ENSG00000213430 OTTHUMG00000161914 NG_008757 PGOHUM00000235528 HGNC:35133 +HGNC:5263 HSPD1P2 heat shock protein family D (Hsp60) member 1 pseudogene 2 pseudogene pseudogene Approved 8p23.1 08p23.1 "HSP60P2|HSPD-9P" HSPDP2 "heat shock 60kD protein 1 (chaperonin) pseudogene 2|heat shock 60kDa protein 1 (chaperonin) pseudogene 2" 1991-07-19 2008-09-22 2015-11-19 2017-10-26 645808 ENSG00000254543 OTTHUMG00000165400 M34662 NG_001146 1980192 PGOHUM00000303069 HGNC:5263 +HGNC:5264 HSPD1P3 heat shock protein family D (Hsp60) member 1 pseudogene 3 pseudogene pseudogene Approved 8p23.1 08p23.1 "HSP60P3|HSP60P1|HSP60P4|HSPD1-7P" "HSPDP3|HSPDP1|HSPDP4" "heat shock 60kD protein 1 (chaperonin) pseudogene 3|heat shock 60kDa protein 1 (chaperonin) pseudogene 1|heat shock 60kD protein 1 (chaperonin) pseudogene 1|heat shock 60kDa protein 1 (chaperonin) pseudogene 4|heat shock 60kD protein 1 (chaperonin) pseudogene 4|heat shock 60kDa protein 1 (chaperonin) pseudogene 3" 1991-07-19 2008-09-22 2015-11-19 2017-10-26 3332 ENSG00000255128 OTTHUMG00000165385 M34661 NG_001145 1980192 PGOHUM00000303422 HGNC:5264 +HGNC:35146 HSPD1P4 heat shock protein family D (Hsp60) member 1 pseudogene 4 pseudogene pseudogene Approved 12q13.3 12q13.3 HSPD1-5P heat shock 60kDa protein 1 (chaperonin) pseudogene 4 2008-09-22 2015-11-19 2016-10-11 644745 ENSG00000257576 OTTHUMG00000170572 NG_008756 PGOHUM00000239809 HGNC:35146 +HGNC:5266 HSPD1P5 heat shock protein family D (Hsp60) member 1 pseudogene 5 pseudogene pseudogene Approved 4q31.21 04q31.21 HSPD1-8P HSPDP5 "heat shock 60kD protein 1 (chaperonin) pseudogene 5|heat shock 60kDa protein 1 (chaperonin) pseudogene 5" 1991-07-19 2008-09-22 2015-11-19 2015-11-19 345041 ENSG00000249193 OTTHUMG00000161476 XR_017561 PGOHUM00000246095 HGNC:5266 +HGNC:5267 HSPD1P6 heat shock protein family D (Hsp60) member 1 pseudogene 6 pseudogene pseudogene Approved 3p22.2 03p22.2 HSPD1-6P HSPDP6 "heat shock 60kD protein 1 (chaperonin) pseudogene 6|heat shock 60kDa protein 1 (chaperonin) pseudogene 6" 1991-07-19 2008-09-22 2015-11-19 2016-10-05 645548 ENSG00000230067 OTTHUMG00000155803 XR_017400 PGOHUM00000237584 HGNC:5267 +HGNC:5268 HSPD1P7 heat shock protein family D (Hsp60) member 1 pseudogene 7 pseudogene pseudogene Approved 21q21.3 21q21.3 HSPD1-22P HSPDP7 "heat shock 60kD protein 1 (chaperonin) pseudogene 7|heat shock 60kDa protein 1 (chaperonin) pseudogene 7" 2000-05-23 2008-09-22 2015-11-19 2015-11-19 54047 ENSG00000215005 OTTHUMG00000078751 NG_000920 HGNC:5268 +HGNC:35145 HSPD1P8 heat shock protein family D (Hsp60) member 1 pseudogene 8 pseudogene pseudogene Approved 13q31.1 13q31.1 HSPD1-12P heat shock 60kDa protein 1 (chaperonin) pseudogene 8 2008-09-22 2015-11-19 2015-11-19 647298 ENSG00000215357 OTTHUMG00000017123 NG_011337 PGOHUM00000248642 HGNC:35145 +HGNC:35132 HSPD1P9 heat shock protein family D (Hsp60) member 1 pseudogene 9 pseudogene pseudogene Approved 13q13.3 13q13.3 HSPD1-14P heat shock 60kDa protein 1 (chaperonin) pseudogene 9 2008-09-22 2015-11-19 2017-03-22 646910 ENSG00000228036 OTTHUMG00000016753 NG_016588 PGOHUM00000291926 HGNC:35132 +HGNC:35131 HSPD1P10 heat shock protein family D (Hsp60) member 1 pseudogene 10 pseudogene pseudogene Approved 6q14.3-q15 06q14.3-q15 HSPD1-4P heat shock 60kDa protein 1 (chaperonin) pseudogene 10 2008-09-22 2015-11-19 2018-02-13 644016 ENSG00000216990 OTTHUMG00000015167 NG_021117 PGOHUM00000243700 HGNC:35131 +HGNC:35142 HSPD1P11 heat shock protein family D (Hsp60) member 1 pseudogene 11 pseudogene pseudogene Approved 5q15 05q15 heat shock 60kDa protein 1 (chaperonin) pseudogene 11 2008-09-22 2015-11-19 2015-11-19 100359396 ENSG00000251348 OTTHUMG00000162737 NG_016480 PGOHUM00000235700 HGNC:35142 +HGNC:35140 HSPD1P12 heat shock protein family D (Hsp60) member 1 pseudogene 12 pseudogene pseudogene Approved 12p13.31 12p13.31 HSPD1-10P heat shock 60kDa protein 1 (chaperonin) pseudogene 12 2008-09-22 2015-11-19 2017-03-22 283320 ENSG00000255964 OTTHUMG00000168524 NG_003217 PGOHUM00000291525 HGNC:35140 +HGNC:35138 HSPD1P13 heat shock protein family D (Hsp60) member 1 pseudogene 13 pseudogene pseudogene Approved 11q22.3 11q22.3 HSPD1-16P heat shock 60kDa protein 1 (chaperonin) pseudogene 13 2008-09-22 2015-11-19 2020-04-06 100462987 ENSG00000255403 OTTHUMG00000166237 NG_023061 PGOHUM00000242884 HGNC:35138 +HGNC:35143 HSPD1P14 heat shock protein family D (Hsp60) member 1 pseudogene 14 pseudogene pseudogene Approved 1p35.1 01p35.1 HSPD1-17P heat shock 60kDa protein 1 (chaperonin) pseudogene 14 2008-09-22 2015-11-19 2015-11-19 100287140 ENSG00000227000 OTTHUMG00000057513 NG_022774 PGOHUM00000244665 HGNC:35143 +HGNC:35130 HSPD1P15 heat shock protein family D (Hsp60) member 1 pseudogene 15 pseudogene pseudogene Approved 5p14.3 05p14.3 HSPD1-15P heat shock 60kDa protein 1 (chaperonin) pseudogene 15 2008-09-22 2015-11-19 2015-11-19 646273 ENSG00000249557 OTTHUMG00000161809 NG_016584 PGOHUM00000235525 HGNC:35130 +HGNC:35128 HSPD1P16 heat shock protein family D (Hsp60) member 1 pseudogene 16 pseudogene pseudogene Approved 6q25.2 06q25.2 HSPD1-13P heat shock 60kDa protein 1 (chaperonin) pseudogene 16 2008-09-22 2015-11-19 2015-11-19 100462985 ENSG00000218792 OTTHUMG00000015849 NG_023060 PGOHUM00000243824 HGNC:35128 +HGNC:35147 HSPD1P17 heat shock protein family D (Hsp60) member 1 pseudogene 17 pseudogene pseudogene Approved 10q11.23 10q11.23 HSPD1-19P heat shock 60kDa protein 1 (chaperonin) pseudogene 17 2008-09-22 2015-11-19 2015-11-19 100462986 NG_023064 HGNC:35147 +HGNC:35136 HSPD1P18 heat shock protein family D (Hsp60) member 1 pseudogene 18 pseudogene pseudogene Approved 5q31.1 05q31.1 heat shock 60kDa protein 1 (chaperonin) pseudogene 18 2008-09-22 2015-11-19 2015-11-19 100359397 ENSG00000248351 OTTHUMG00000163218 NG_016481 PGOHUM00000235404 HGNC:35136 +HGNC:38590 HSPD1P19 heat shock protein family D (Hsp60) member 1 pseudogene 19 pseudogene pseudogene Approved 20q13.32 20q13.32 HSPD1-18P heat shock 60kDa protein 1 (chaperonin) pseudogene 19 2010-06-25 2015-11-19 2015-11-19 100463288 NG_023062 PGOHUM00000247682 HGNC:38590 +HGNC:38591 HSPD1P20 heat shock protein family D (Hsp60) member 1 pseudogene 20 pseudogene pseudogene Approved 12p13.31 12p13.31 HSPD1-20P heat shock 60kDa protein 1 (chaperonin) pseudogene 20 2010-06-25 2015-11-19 2015-11-19 100462989 NG_023065 PGOHUM00000239312 HGNC:38591 +HGNC:38592 HSPD1P21 heat shock protein family D (Hsp60) member 1 pseudogene 21 pseudogene pseudogene Approved 20q13.12 20q13.12 HSPD1-3P heat shock 60kDa protein 1 (chaperonin) pseudogene 21 2010-06-25 2015-11-19 2015-11-19 100462990 ENSG00000229900 OTTHUMG00000032589 NG_023059 PGOHUM00000247546 HGNC:38592 +HGNC:39502 HSPD1P22 heat shock protein family D (Hsp60) member 1 pseudogene 22 pseudogene pseudogene Approved 5q12.1 05q12.1 HSPD1-21P heat shock 60kDa protein 1 (chaperonin) pseudogene 22 2011-01-31 2015-11-19 2015-11-19 100462984 NG_023066 HGNC:39502 +HGNC:5269 HSPE1 heat shock protein family E (Hsp10) member 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CPN10|GroES|HSP10|EPF" "chaperonin 10|early pregnancy factor" "heat shock 10kD protein 1 (chaperonin 10)|heat shock 10kDa protein 1" Chaperonins 587 1994-11-16 2015-11-19 2015-11-19 3336 ENSG00000115541 OTTHUMG00000132749 uc002uul.4 AF109872 NM_002157 CCDS2320 P61604 "7914093|7698325" MGI:104680 RGD:2844 600141 HGNC:5269 "ENST00000233893.10|NM_002157.3" +HGNC:49184 HSPE1-MOB4 HSPE1-MOB4 readthrough other readthrough Approved 2q33.1 02q33.1 2013-09-25 2013-09-25 100529241 ENSG00000270757 OTTHUMG00000184877 NM_001202485 HGNC:49184 +HGNC:16530 HSPE1P1 heat shock protein family E (Hsp10) member 1 pseudogene 1 pseudogene pseudogene Approved 20q12 20q12 bA101E14.1 HSPEP1 "heat shock 10kD protein 1 (chaperonin 10) psuedogene 1|heat shock 10kDa protein 1 pseudogene 1" 2001-09-17 2010-01-08 2015-11-19 2015-11-19 140895 ENSG00000234878 OTTHUMG00000032471 NG_001006 PGOHUM00000247533 HGNC:16530 +HGNC:20052 HSPE1P2 heat shock protein family E (Hsp10) member 1 pseudogene 2 pseudogene pseudogene Approved 14q23.2 14q23.2 HSPEP2 heat shock 10kDa protein 1 pseudogene 2 2003-01-13 2010-01-08 2015-11-19 2015-11-19 326300 ENSG00000258645 OTTHUMG00000171131 NG_002552 PGOHUM00000248199 HGNC:20052 +HGNC:49322 HSPE1P3 heat shock protein family E (Hsp10) member 1 pseudogene 3 pseudogene pseudogene Approved 15q26.1 15q26.1 heat shock 10kDa protein 1 pseudogene 3 2013-10-17 2015-11-19 2015-11-19 100507046 ENSG00000259746 OTTHUMG00000172336 NG_047180 PGOHUM00000247271 HGNC:49322 +HGNC:49323 HSPE1P4 heat shock protein family E (Hsp10) member 1 pseudogene 4 pseudogene pseudogene Approved 12q23.2 12q23.2 heat shock 10kDa protein 1 pseudogene 4 2013-10-17 2015-11-19 2015-11-19 100287369 ENSG00000258153 OTTHUMG00000170446 NG_030128 PGOHUM00000239568 HGNC:49323 +HGNC:49324 HSPE1P5 heat shock protein family E (Hsp10) member 1 pseudogene 5 pseudogene pseudogene Approved 16q22.1 16q22.1 heat shock 10kDa protein 1 pseudogene 5 2013-10-17 2015-11-19 2015-11-19 100506000 ENSG00000261395 OTTHUMG00000176787 NG_009096 PGOHUM00000249160 HGNC:49324 +HGNC:49325 HSPE1P6 heat shock protein family E (Hsp10) member 1 pseudogene 6 pseudogene pseudogene Approved 1q32.1 01q32.1 heat shock 10kDa protein 1 pseudogene 6 2013-10-17 2015-11-19 2015-11-19 106480254 ENSG00000232917 OTTHUMG00000036052 NG_043911 PGOHUM00000244399 HGNC:49325 +HGNC:49327 HSPE1P7 heat shock protein family E (Hsp10) member 1 pseudogene 7 pseudogene pseudogene Approved 16q23.1 16q23.1 heat shock 10kDa protein 1 pseudogene 7 2013-10-17 2015-11-19 2015-11-19 100132346 ENSG00000270945 OTTHUMG00000184815 NG_029256 PGOHUM00000259087 HGNC:49327 +HGNC:49326 HSPE1P8 heat shock protein family E (Hsp10) member 1 pseudogene 8 pseudogene pseudogene Approved 1p34.3 01p34.3 heat shock 10kDa protein 1 pseudogene 8 2013-10-17 2015-11-19 2015-11-19 100292290 ENSG00000217897 OTTHUMG00000008349 NG_029204 PGOHUM00000243974 HGNC:49326 +HGNC:49328 HSPE1P9 heat shock protein family E (Hsp10) member 1 pseudogene 9 pseudogene pseudogene Approved 2q37.1 02q37.1 heat shock 10kDa protein 1 pseudogene 9 2013-10-17 2015-11-19 2015-11-19 106480255 ENSG00000232690 OTTHUMG00000153155 NG_045108 PGOHUM00000240563 HGNC:49328 +HGNC:49329 HSPE1P10 heat shock protein family E (Hsp10) member 1 pseudogene 10 pseudogene pseudogene Approved 5q23.2 05q23.2 heat shock 10kDa protein 1 pseudogene 10 2013-10-17 2015-11-19 2015-11-19 100288235 ENSG00000249768 OTTHUMG00000163036 NG_030295 PGOHUM00000260020 HGNC:49329 +HGNC:49330 HSPE1P11 heat shock protein family E (Hsp10) member 1 pseudogene 11 pseudogene pseudogene Approved 6p21.31 06p21.31 heat shock 10kDa protein 1 pseudogene 11 2013-10-17 2015-11-19 2015-11-19 106481673 ENSG00000187762 OTTHUMG00000014558 NG_045268 PGOHUM00000243603 HGNC:49330 +HGNC:49331 HSPE1P12 heat shock protein family E (Hsp10) member 1 pseudogene 12 pseudogene pseudogene Approved 12p13.2 12p13.2 heat shock 10kDa protein 1 pseudogene 12 2013-10-17 2015-11-19 2017-03-22 100286954 ENSG00000235930 OTTHUMG00000168489 NG_030131 PGOHUM00000291550 HGNC:49331 +HGNC:49332 HSPE1P13 heat shock protein family E (Hsp10) member 1 pseudogene 13 pseudogene pseudogene Approved 2p22.1 02p22.1 heat shock 10kDa protein 1 pseudogene 13 2013-10-17 2015-11-19 2015-11-19 106480256 ENSG00000225900 OTTHUMG00000153568 NG_007530 PGOHUM00000259734 HGNC:49332 +HGNC:49333 HSPE1P14 heat shock protein family E (Hsp10) member 1 pseudogene 14 pseudogene pseudogene Approved 8q22.3 08q22.3 heat shock 10kDa protein 1 pseudogene 14 2013-10-17 2015-11-19 2015-11-19 106481674 ENSG00000271612 OTTHUMG00000184578 NG_042986 PGOHUM00000257214 HGNC:49333 +HGNC:49335 HSPE1P15 heat shock protein family E (Hsp10) member 1 pseudogene 15 pseudogene pseudogene Approved 5q31.2 05q31.2 heat shock 10kDa protein 1 pseudogene 15 2013-10-18 2015-11-19 2020-04-06 112323207 NG_066017 PGOHUM00000235775 HGNC:49335 +HGNC:49334 HSPE1P16 heat shock protein family E (Hsp10) member 1 pseudogene 16 pseudogene pseudogene Approved 16p12.1 16p12.1 EPF8 heat shock 10kDa protein 1 pseudogene 16 2013-10-17 2015-11-19 2015-11-19 171421 ENSG00000237140 OTTHUMG00000059950 NG_001326 10763410 PGOHUM00000248768 HGNC:49334 +HGNC:49336 HSPE1P17 heat shock protein family E (Hsp10) member 1 pseudogene 17 pseudogene pseudogene Approved 3q11.1 03q11.1 heat shock 10kDa protein 1 pseudogene 17 2013-10-18 2015-11-19 2020-04-06 112352682 NG_066022 PGOHUM00000259831 HGNC:49336 +HGNC:49337 HSPE1P18 heat shock protein family E (Hsp10) member 1 pseudogene 18 pseudogene pseudogene Approved 11q23.3 11q23.3 heat shock 10kDa protein 1 pseudogene 18 2013-10-18 2015-11-19 2015-11-19 106480257 ENSG00000255163 OTTHUMG00000166995 NG_045639 PGOHUM00000242499 HGNC:49337 +HGNC:49338 HSPE1P19 heat shock protein family E (Hsp10) member 1 pseudogene 19 pseudogene pseudogene Approved 3p11.1 03p11.1 heat shock 10kDa protein 1 pseudogene 19 2013-10-18 2015-11-19 2015-11-19 106481675 ENSG00000271024 OTTHUMG00000184367 NG_042994 PGOHUM00000237682 HGNC:49338 +HGNC:49339 HSPE1P20 heat shock protein family E (Hsp10) member 1 pseudogene 20 pseudogene pseudogene Approved 12q24.32 12q24.32 heat shock 10kDa protein 1 pseudogene 20 2013-10-18 2015-11-19 2015-11-19 100288726 ENSG00000257021 OTTHUMG00000168455 NG_030135 PGOHUM00000239956 HGNC:49339 +HGNC:49340 HSPE1P21 heat shock protein family E (Hsp10) member 1 pseudogene 21 pseudogene pseudogene Approved 6q23.2 06q23.2 heat shock 10kDa protein 1 pseudogene 21 2013-10-18 2015-11-19 2015-11-19 106480258 ENSG00000238059 OTTHUMG00000015603 NG_011596 PGOHUM00000243377 HGNC:49340 +HGNC:49341 HSPE1P22 heat shock protein family E (Hsp10) member 1 pseudogene 22 pseudogene pseudogene Approved 9q22.31 09q22.31 heat shock 10kDa protein 1 pseudogene 22 2013-10-18 2015-11-19 2015-11-19 100289607 ENSG00000237306 OTTHUMG00000020213 NG_030092 PGOHUM00000236698 HGNC:49341 +HGNC:49342 HSPE1P23 heat shock protein family E (Hsp10) member 1 pseudogene 23 pseudogene pseudogene Approved 4q13.3 04q13.3 heat shock 10kDa protein 1 pseudogene 23 2013-10-18 2015-11-19 2015-11-19 106481676 ENSG00000250356 OTTHUMG00000160825 NG_043003 PGOHUM00000257091 HGNC:49342 +HGNC:49343 HSPE1P24 heat shock protein family E (Hsp10) member 1 pseudogene 24 pseudogene pseudogene Approved 1p36.22 01p36.22 heat shock 10kDa protein 1 pseudogene 24 2013-10-18 2015-11-19 2015-11-19 106480259 ENSG00000225158 OTTHUMG00000002034 NG_043941 PGOHUM00000244598 HGNC:49343 +HGNC:49344 HSPE1P25 heat shock protein family E (Hsp10) member 1 pseudogene 25 pseudogene pseudogene Approved 1p31.1 01p31.1 heat shock 10kDa protein 1 pseudogene 25 2013-10-18 2015-11-19 2015-11-19 106480260 ENSG00000232015 OTTHUMG00000040563 NG_045649 PGOHUM00000244764 HGNC:49344 +HGNC:49345 HSPE1P26 heat shock protein family E (Hsp10) member 1 pseudogene 26 pseudogene pseudogene Approved 6q25.3 06q25.3 heat shock 10kDa protein 1 pseudogene 26 2013-10-18 2015-11-19 2015-11-19 106481677 ENSG00000220867 OTTHUMG00000015899 NG_045283 PGOHUM00000243838 HGNC:49345 +HGNC:49346 HSPE1P27 heat shock protein family E (Hsp10) member 1 pseudogene 27 pseudogene pseudogene Approved 1p36.12 01p36.12 heat shock 10kDa protein 1 pseudogene 27 2013-10-18 2015-11-19 2015-11-19 106480261 ENSG00000235112 OTTHUMG00000002776 NG_047026 HGNC:49346 +HGNC:49347 HSPE1P28 heat shock protein family E (Hsp10) member 1 pseudogene 28 pseudogene pseudogene Approved 9q32 09q32 heat shock 10kDa protein 1 pseudogene 28 2013-10-18 2015-11-19 2015-11-19 171420 ENSG00000230081 OTTHUMG00000020501 NG_001325 HGNC:49347 +HGNC:5273 HSPG2 heparan sulfate proteoglycan 2 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "perlecan|PRCAN" "perlecan proteoglycan|endorepellin" SJS1 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) "Proteoglycans|I-set domain containing" "570|593" 1991-02-27 2007-02-16 2007-02-16 2021-01-26 3339 ENSG00000142798 OTTHUMG00000002674 uc001bfj.4 M85289 NM_005529 CCDS30625 P98160 "1685141|11941538" MGI:96257 RGD:621770 142461 122547 HGNC:5273 "ENST00000374695.8|NM_005529.7" HGNC:5273 +HGNC:16969 HSPH1 heat shock protein family H (Hsp110) member 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "HSP105B|KIAA0201|HSP105A|NY-CO-25" heat shock 105kDa/110kDa protein 1 Heat shock 70kDa proteins 583 2003-02-19 2015-11-19 2015-11-19 10808 ENSG00000120694 OTTHUMG00000016685 uc001utj.5 AB003333 NM_001286503 "CCDS66526|CCDS66525|CCDS73559|CCDS9340" Q92598 "9610721|9931472" MGI:105053 RGD:1311609 610703 470480 HGNC:16969 "ENST00000320027.10|NM_006644.4" +HGNC:16637 HTATIP2 HIV-1 Tat interactive protein 2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "TIP30|CC3|FLJ26963|SDR44U1" "Tat-interacting protein (30kD)|short chain dehydrogenase/reductase family 44U, member 1" "HIV-1 Tat interactive protein 2, 30 kDa|HIV-1 Tat interactive protein 2, 30kDa" Short chain dehydrogenase/reductase superfamily 743 2001-09-21 2015-11-09 2015-11-09 10553 ENSG00000109854 OTTHUMG00000166015 uc001mpz.3 AF039103 NM_001098521 "CCDS7852|CCDS44553|CCDS53613" Q9BUP3 "9482853|9174052|19027726" MGI:1859271 RGD:1309941 605628 1.1.1.- HGNC:16637 "ENST00000451739.7|NM_001098522.2" +HGNC:5276 HTATSF1 HIV-1 Tat specific factor 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 TAT-SF1 HIV TAT specific factor 1 RNA binding motif containing 725 2000-07-25 2006-01-09 2020-04-02 27336 ENSG00000102241 OTTHUMG00000022510 uc004ezw.4 U76992 NM_014500 CCDS14657 O43719 8849451 MGI:1919709 RGD:1563377 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HTATSF1 300346 HGNC:5276 "ENST00000218364.5|NM_014500.5" +HGNC:13959 HTATSF1P1 HIV-1 Tat specific factor 1 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 "TAT-SF1-L|dJ1033B10.6" HTATSF1P "HIV TAT specific factor 1 pseudogene|HIV-1 Tat specific factor 1 pseudogene" 2003-11-26 2010-06-21 2010-06-21 2015-02-09 387039 ENSG00000223457 OTTHUMG00000031101 PGOHUM00000301764 +HGNC:38586 HTATSF1P2 HIV-1 Tat specific factor 1 pseudogene 2 pseudogene pseudogene Approved 6p25.2 06p25.2 2010-06-22 2018-02-02 401233 ENSG00000271361 OTTHUMG00000184550 NG_030001 PGOHUM00000243042 HGNC:38586 +HGNC:53111 HTD2 hydroxyacyl-thioester dehydratase type 2 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 2017-02-09 2017-02-20 109703458 ENSG00000255154 OTTHUMG00000166318 NM_001348712 CCDS87096 P86397 17898086 4.2.1.- HGNC:53111 "ENST00000461393.7|NM_001348712.2" +HGNC:5283 HTN1 histatin 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 HIS1 Histatins and statherin 971 1990-04-09 2016-10-05 3346 ENSG00000126550 OTTHUMG00000129397 uc003hex.4 NM_001368990 CCDS3534 P15515 142701 HGNC:5283 "ENST00000246896.8|NM_002159.4" +HGNC:5284 HTN3 histatin 3 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 HIS2 Histatins and statherin 971 1990-09-10 2016-10-11 3347 ENSG00000205649 OTTHUMG00000160841 uc003hew.2 NM_000200 CCDS33999 P15516 142702 HGNC:5284 "ENST00000673563.1|NM_000200.3" +HGNC:5285 HTOR 5-hydroxytryptamine (serotonin) oxygenase regulator other unknown Approved 21 21 2001-06-22 2019-06-26 3349 93675 143460 +HGNC:5286 HTR1A 5-hydroxytryptamine receptor 1A protein-coding gene gene with protein product Approved 5q12.3 05q12.3 5-HT1A "ADRB2RL1|ADRBRL1" "5-hydroxytryptamine (serotonin) receptor 1A|5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1986-01-01 2016-02-04 2016-02-04 3350 ENSG00000178394 OTTHUMG00000162279 uc011cqt.4 AF498978 NM_000524 CCDS34168 P08908 "2591972|12969265" MGI:96273 RGD:2845 109760 objectId:1 HGNC:5286 "ENST00000323865.5|NM_000524.4" HGNC:5286 +HGNC:5287 HTR1B 5-hydroxytryptamine receptor 1B protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "S12|5-HT1B|HTR1D2|5-HT1DB" "5-hydroxytryptamine (serotonin) receptor 1B|5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1992-06-12 2016-02-04 2016-10-05 3351 ENSG00000135312 OTTHUMG00000015066 uc003pil.2 BC069065 NM_000863 CCDS4986 P28222 "1348246|11247661" MGI:96274 RGD:2846 182131 objectId:2 HGNC:5287 "ENST00000369947.5|NM_000863.3" +HGNC:5289 HTR1D 5-hydroxytryptamine receptor 1D protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "RDC4|HT1DA|5-HT1D" HTRL "5-hydroxytryptamine (serotonin) receptor 1D|5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1992-06-11 2016-02-04 2016-10-05 3352 ENSG00000179546 OTTHUMG00000003235 uc001bgn.3 M89955 NM_000864 CCDS231 P28221 "2541503|1662665" MGI:96276 RGD:2847 182133 objectId:3 HGNC:5289 "ENST00000374619.2|NM_000864.5" +HGNC:5290 HTR1DP1 5-hydroxytryptamine receptor 1D pseudogene 1 pseudogene pseudogene Approved 12p13.33 12p13.33 5-hydroxytryptamine (serotonin) receptor 1D pseudogene 1 1993-06-08 2016-02-04 2016-10-11 100421479 ENSG00000275811 OTTHUMG00000187789 NG_023961 8444354 PGOHUM00000239288 HGNC:5290 +HGNC:5291 HTR1E 5-hydroxytryptamine receptor 1E protein-coding gene gene with protein product Approved 6q14.3 06q14.3 5-HT1E "5-hydroxytryptamine (serotonin) receptor 1E|5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1992-09-01 2016-02-04 2016-10-05 3354 ENSG00000168830 OTTHUMG00000015154 uc003pli.4 NM_000865 CCDS5006 P28566 1608964 182132 objectId:4 HGNC:5291 "ENST00000305344.7|NM_000865.3" +HGNC:5292 HTR1F 5-hydroxytryptamine receptor 1F protein-coding gene gene with protein product Approved 3p12 03p12 "HTR1EL|5-HT1F" "5-hydroxytryptamine (serotonin) receptor 1F|5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1993-05-26 2016-02-04 2016-02-04 3355 ENSG00000179097 OTTHUMG00000159008 uc062lsi.1 L05597 NM_000866 CCDS2920 P30939 "8384716|8380639" MGI:99842 RGD:71083 182134 objectId:5 HGNC:5292 "ENST00000319595.7|NM_001322209.2" +HGNC:5293 HTR2A 5-hydroxytryptamine receptor 2A protein-coding gene gene with protein product Approved 13q14.2 13q14.2 5-HT2A HTR2 "5-hydroxytryptamine (serotonin) receptor 2A|5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1990-08-03 2016-02-04 2021-04-13 3356 ENSG00000102468 OTTHUMG00000016881 uc010acr.5 X57830 NM_000621 CCDS9405 P28223 8035173 MGI:109521 RGD:61800 LRG_1008|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1008.xml 182135 objectId:6 HGNC:5293 "ENST00000542664.4|NM_000621.5" +HGNC:40289 HTR2A-AS1 HTR2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 HTR2A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874082 ENSG00000224517 OTTHUMG00000016880 uc032aen.2 NR_046612 HTR2A-AS1 HGNC:40289 +HGNC:5294 HTR2B 5-hydroxytryptamine receptor 2B protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "5-HT(2B)|5-HT2B" "5-hydroxytryptamine (serotonin) receptor 2B|5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1994-07-05 2016-02-04 2016-10-05 3357 ENSG00000135914 OTTHUMG00000133222 uc002vro.4 NM_000867 CCDS2483 P41595 8143856 MGI:109323 RGD:61801 601122 objectId:7 HGNC:5294 "ENST00000258400.4|NM_000867.5" +HGNC:5295 HTR2C 5-hydroxytryptamine receptor 2C protein-coding gene gene with protein product Approved Xq23 Xq23 "5-HT2C|5HTR2C" HTR1C "5-hydroxytryptamine (serotonin) receptor 2C|5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled" "5-hydroxytryptamine receptors, G protein-coupled|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "170|1691|1835" 1994-08-29 2016-02-04 2021-04-13 3358 ENSG00000147246 OTTHUMG00000022226 uc004epu.1 NM_000868 "CCDS14564|CCDS59174" P28335 7895773 MGI:96281 RGD:2848 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HTR2C|LRG_1009|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1009.xml" 312861 objectId:8 HGNC:5295 "ENST00000276198.6|NM_000868.4" +HGNC:5297 HTR3A 5-hydroxytryptamine receptor 3A protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "5-HT3R|5-HT3A" HTR3 "5-hydroxytryptamine (serotonin) receptor 3A|5-hydroxytryptamine (serotonin) receptor 3A, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 1994-06-16 2016-02-04 2016-10-11 3359 ENSG00000166736 OTTHUMG00000160494 uc010rxc.3 D49394 NM_000869 CCDS53710 P46098 "8530095|12867984" MGI:96282 RGD:61818 University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3A 182139 objectId:373 HGNC:5297 "ENST00000504030.7|NM_000869.6" +HGNC:5298 HTR3B 5-hydroxytryptamine receptor 3B protein-coding gene gene with protein product Approved 11q23.2 11q23.2 5-HT3B "5-hydroxytryptamine (serotonin) receptor 3B|5-hydroxytryptamine (serotonin) receptor 3B, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 1999-12-21 2016-02-04 2016-10-05 9177 ENSG00000149305 OTTHUMG00000168210 uc001pok.4 AF080582 NM_006028 "CCDS86249|CCDS8364" O95264 "9950429|10521471" MGI:1861899 RGD:61820 University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3B 604654 objectId:374 HGNC:5298 "ENST00000260191.8|NM_006028.5" +HGNC:24003 HTR3C 5-hydroxytryptamine receptor 3C protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "5-hydroxytryptamine (serotonin) receptor 3, family member C|5-hydroxytryptamine (serotonin) receptor 3C, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 2004-07-12 2016-02-04 2016-10-05 170572 ENSG00000178084 OTTHUMG00000156862 uc003fmk.4 AF459285 NM_130770 CCDS3250 Q8WXA8 "12801637|15157181" University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3C 610121 objectId:375 HGNC:24003 "ENST00000318351.2|NM_130770.3" +HGNC:53986 HTR3C2P 5-hydroxytryptamine receptor 3C2, pseudogene pseudogene pseudogene Approved 3q27.1 03q27.1 5-HT3C2 2018-08-17 2018-08-17 389180 ENSG00000233576 OTTHUMG00000156860 NG_005672 PGOHUM00000299683 HGNC:53986 +HGNC:24004 HTR3D 5-hydroxytryptamine receptor 3D protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "5-hydroxytryptamine (serotonin) receptor 3 family member D|5-hydroxytryptamine (serotonin) receptor 3D, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 2004-07-13 2016-02-04 2016-10-05 200909 ENSG00000186090 OTTHUMG00000156858 uc003fmj.3 AY159812 NM_182537 "CCDS54685|CCDS46966|CCDS3249" Q70Z44 12801637 University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3D 610122 objectId:376 HGNC:24004 "ENST00000428798.7|NM_001145143.1" +HGNC:24005 HTR3E 5-hydroxytryptamine receptor 3E protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "5-hydroxytryptamine (serotonin) receptor 3, family member E|5-hydroxytryptamine (serotonin) receptor 3E, ionotropic" 5-hydroxytryptamine receptors, ionotropic 172 2004-07-12 2016-02-04 2016-10-05 285242 ENSG00000186038 OTTHUMG00000156857 uc003fmm.3 AY159813 NM_182589 "CCDS3251|CCDS58871|CCDS58870|CCDS58869|CCDS58868" A5X5Y0 "12801637|15157181" University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=HTR3E 610123 objectId:377 HGNC:24005 "ENST00000415389.6|NM_001256613.2" +HGNC:41032 HTR3E-AS1 HTR3E antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 HTR3E antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 106478970 ENSG00000238020 OTTHUMG00000156861 uc062qqn.1 NR_133658 HTR3E-AS1 HGNC:41032 +HGNC:5299 HTR4 5-hydroxytryptamine receptor 4 protein-coding gene gene with protein product Approved 5q32 05q32 5-HT4 "5-hydroxytryptamine (serotonin) receptor 4|5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1997-07-22 2016-02-04 2016-10-05 3360 ENSG00000164270 OTTHUMG00000129931 uc003lpn.5 Y08756 NM_000870 "CCDS75353|CCDS4291|CCDS34273|CCDS34272|CCDS34271|CCDS34270" Q13639 "9371406|9276448" MGI:109246 RGD:2850 602164 objectId:9 HGNC:5299 "ENST00000377888.8|NM_000870.7" +HGNC:5300 HTR5A 5-hydroxytryptamine receptor 5A protein-coding gene gene with protein product Approved 7q36.2 07q36.2 5-HT5A "5-hydroxytryptamine (serotonin) receptor 5A|5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1995-07-06 2016-02-04 2021-04-13 3361 ENSG00000157219 OTTHUMG00000151327 uc003wlu.3 NM_024012 CCDS5936 P47898 7988681 MGI:96283 RGD:2851 LRG_1057|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1057.xml 601305 objectId:10 HGNC:5300 "ENST00000287907.3|NM_024012.4" +HGNC:48956 HTR5A-AS1 HTR5A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.2 07q36.2 HTR5AOS HTR5A opposite strand Antisense RNAs 1987 2013-07-23 2014-10-03 2014-10-03 2014-10-03 100128264 ENSG00000220575 OTTHUMG00000151326 "BC031272|BC045795" NR_038945 HTR5A-AS1 HGNC:48956 +HGNC:16291 HTR5BP 5-hydroxytryptamine receptor 5B, pseudogene pseudogene pseudogene Approved 2q14.1 02q14.1 5-HT5B "GPR134|HTR5B" "G protein-coupled receptor 134|5-hydroxytryptamine (serotonin) receptor 5B|5-hydroxytryptamine (serotonin) receptor 5B, pseudogene" 5-hydroxytryptamine receptors, G protein-coupled 170 2001-07-20 2011-05-04 2016-02-04 2020-04-20 645694 ENSG00000125631 OTTHUMG00000058516 AB065453 NG_008325 PGOHUM00000240882 HGNC:16291 +HGNC:5301 HTR6 5-hydroxytryptamine receptor 6 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "5-HT6|5-HT6R" "5-hydroxytryptamine (serotonin) receptor 6|5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1997-12-11 2016-02-04 2016-10-05 3362 ENSG00000158748 OTTHUMG00000002713 uc001bcl.5 L41147 NM_000871 CCDS197 P50406 8522988 MGI:1196627 RGD:62044 601109 objectId:11 HGNC:5301 "ENST00000289753.2|NM_000871.3" +HGNC:5302 HTR7 5-hydroxytryptamine receptor 7 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 5-HT7 "5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)|5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled" 5-hydroxytryptamine receptors, G protein-coupled 170 1994-05-18 2016-02-04 2016-10-05 3363 ENSG00000148680 OTTHUMG00000018732 uc001kgz.4 BC047526 NM_000872 "CCDS7409|CCDS7408|CCDS7410" P34969 8226867 MGI:99841 RGD:71034 182137 objectId:12 HGNC:5302 "ENST00000336152.8|NM_019859.4" +HGNC:30411 HTR7P1 5-hydroxytryptamine receptor 7 pseudogene 1 pseudogene pseudogene Approved 12p13.1 12p13.1 HTR7P "5-hydroxytryptamine (serotonin) receptor 7 pseudogene|5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1" 2006-01-20 2010-03-22 2016-02-04 2016-02-04 93164 ENSG00000183935 OTTHUMG00000167959 U86813 NR_002774 9473718 PGOHUM00000239681 HGNC:30411 +HGNC:9476 HTRA1 HtrA serine peptidase 1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "HtrA|IGFBP5-protease|ARMD7" PRSS11 protease, serine, 11 (IGF binding) "Serine proteases|PDZ domain containing" "738|1220" 1997-07-25 2005-08-18 2005-08-18 2021-05-26 5654 ENSG00000166033 OTTHUMG00000019186 uc001lgj.2 AF097709 NM_002775 CCDS7630 Q92743 8977104 MGI:1929076 RGD:69235 602194 138706 S01.277 objectId:3194 HGNC:9476 "ENST00000368984.8|NM_002775.5" HGNC:9476 +HGNC:14348 HTRA2 HtrA serine peptidase 2 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "OMI|PARK13" PRSS25 protease, serine, 25 "Serine proteases|PDZ domain containing" "738|1220" 2001-09-26 2005-08-19 2005-08-19 2021-05-26 27429 ENSG00000115317 OTTHUMG00000129957 uc002smi.2 NM_013247 "CCDS1951|CCDS1952" O43464 "10644717|10971580" MGI:1928676 RGD:1308906 606441 122552 S01.278 HGNC:14348 "ENST00000258080.8|NM_013247.5" HGNC:14348 +HGNC:30406 HTRA3 HtrA serine peptidase 3 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "Tasp|Prsp" pregnancy-related serine protease PDZ domain containing 1220 2004-11-18 2014-11-19 94031 ENSG00000170801 OTTHUMG00000090561 uc003gla.4 AY040094 NM_053044 "CCDS3400|CCDS75105" P83110 "12513693|14500695" MGI:1925808 RGD:1308120 608785 S01.284 HGNC:30406 "ENST00000307358.7|NM_053044.5" +HGNC:26909 HTRA4 HtrA serine peptidase 4 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 FLJ90724 PDZ domain containing 1220 2004-11-18 2016-10-05 203100 ENSG00000169495 OTTHUMG00000164070 uc003xmj.4 AK075205 NM_153692 CCDS6110 P83105 MGI:3036260 RGD:1306242 610700 S01.285 HGNC:26909 "ENST00000302495.5|NM_153692.4" +HGNC:4851 HTT huntingtin protein-coding gene gene with protein product Approved 4p16.3 04p16.3 IT15 HD huntingtin (Huntington disease) "Receptor ligands|Armadillo like helical domain containing" "542|1492" 1986-01-01 2007-12-04 2007-12-04 2021-05-26 3064 ENSG00000197386 OTTHUMG00000159916 uc062uto.1 L12392 NM_002111 CCDS43206 P42858 8458085 MGI:96067 RGD:68337 LRG_763|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_763.xml 613004 122387 ligandId:5199 HGNC:4851 "ENST00000355072.11|NM_001388492.1" HGNC:4851 +HGNC:37118 HTT-AS HTT antisense RNA non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 HTTAS HTT-AS1 "HTT antisense RNA 1 (non-protein coding)|HTT antisense RNA 1|HTT antisense RNA (head to head)" Antisense RNAs 1987 2011-06-30 2013-08-27 2018-03-22 2018-03-22 100750326 ENSG00000251075 OTTHUMG00000159915 NR_045414 "21672921|23756188" HTT-AS HGNC:37118 +HGNC:34232 HULC hepatocellular carcinoma up-regulated long non-coding RNA non-coding RNA RNA, long non-coding Approved 6p24.3 06p24.3 "NCRNA00078|LINC00078|HCCAT1" "non-protein coding RNA 78|long intergenic non-protein coding RNA 78|hepatocellular carcinoma associated transcript 1 (non-protein coding)" highly up-regulated in liver cancer long non-coding RNA Long non-coding RNAs with non-systematic symbols 1992 2008-06-05 2013-05-22 2020-01-06 728655 ENSG00000285219 OTTHUMG00000160417 uc032wkv.2 NR_004855 "17241883|23728852" 612210 HULC HULC HGNC:34232 +HGNC:13326 HUNK hormonally up-regulated Neu-associated kinase protein-coding gene gene with protein product Approved 21q22.11 21q22.11 hormonally upregulated Neu-associated kinase 2000-12-13 2008-06-05 2016-10-05 30811 ENSG00000142149 OTTHUMG00000085019 uc002yph.3 AJ271722 NM_014586 CCDS13610 P57058 "10662544|10830953" MGI:1347352 RGD:1565091 606532 objectId:2037 HGNC:13326 "ENST00000270112.7|NM_014586.2" +HGNC:40631 HUNK-AS1 HUNK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 TCONS_00028914 Antisense RNAs 1987 2013-08-08 2014-11-18 106144524 ENSG00000237138 OTTHUMG00000085305 CD689785 HUNK-AS1 +HGNC:5309 HUS1 HUS1 checkpoint clamp component protein-coding gene gene with protein product Approved 7p12.3 07p12.3 hus1+-like protein "HUS1 (S. pombe) checkpoint homolog|HUS1 checkpoint homolog (S. pombe)" Checkpoint clamp complex 1339 1998-07-31 2015-06-22 2015-06-22 3364 ENSG00000136273 OTTHUMG00000155645 uc003tod.3 Y16893 NM_004507 "CCDS34635|CCDS87501" O60921 "9878245|9524127|11944979" MGI:1277962 RGD:1591976 603760 HGNC:5309 "ENST00000258774.10|NM_004507.4" +HGNC:16485 HUS1B HUS1 checkpoint clamp component B protein-coding gene gene with protein product Approved 6p25.3 06p25.3 "HUS1 (S. pombe) checkpoint homolog b|HUS1 checkpoint homolog b (S. pombe)" 2003-06-27 2015-06-22 2015-08-25 135458 ENSG00000188996 OTTHUMG00000090059 uc003mtg.4 AF508547 NM_148959 CCDS4470 Q8NHY5 "11944979|24013428" MGI:2671003 RGD:1585035 609713 HGNC:16485 "ENST00000380907.3|NM_148959.4" +HGNC:30892 HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "Ib772|KIAA0312|UREB1" HECT, UBA and WWE domain containing 1 "Armadillo like helical domain containing|MicroRNA protein coding host genes|HECT domain containing" "1492|1691|1959" 2005-02-01 2019-02-28 2021-05-26 10075 ENSG00000086758 OTTHUMG00000021617 uc033eew.2 AB071605 NM_031407 CCDS35301 Q7Z6Z7 "9205841|10998601" MGI:1926884 RGD:1561763 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HUWE1 300697 209314 HGNC:30892 "ENST00000262854.11|NM_031407.7" HGNC:30892 +HGNC:5314 HVBS7 hepatitis B virus integration site 7 other virus integration site Approved 18q11.1-q11.2 18q11.1-q11.2 1988-07-29 2010-06-21 3369 2830013 +HGNC:5315 HVBS8 hepatitis B virus integration site 8 other virus integration site Approved 17p12-p11.2 17p12-p11.2 1989-04-13 2010-06-16 3370 M23190 2845134 +HGNC:28240 HVCN1 hydrogen voltage gated channel 1 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "MGC15619|Hv1|VSOP" voltage sensor domain-only protein hydrogen voltage-gated channel 1 Hydrogen voltage gated channels 254 2006-03-28 2006-03-24 2015-01-16 2015-01-16 84329 ENSG00000122986 OTTHUMG00000169530 uc001trs.3 BC007277 NM_032369 "CCDS58278|CCDS31900" Q96D96 "20961760|16556803|18356202|22020278" MGI:1921346 RGD:1310788 611227 objectId:746 HGNC:28240 "ENST00000242607.13|NM_032369.4" +HGNC:5320 HYAL1 hyaluronidase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LUCA1|HYAL-1" hyaluronoglucosaminidase 1 Hyaluronidases 1448 1997-10-09 2018-08-02 2021-05-26 3373 ENSG00000114378 OTTHUMG00000156941 uc003czs.4 U90094 NM_033159 "CCDS2817|CCDS46833|CCDS46832|CCDS2816" Q12794 "9223416|9409739" MGI:96298 RGD:1303060 607071 122556 3.2.1.35 HGNC:5320 "ENST00000395144.7|NM_033159.4" HGNC:5320 +HGNC:5321 HYAL2 hyaluronidase 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LuCa-2|LUCA2" "lysosomal hyaluronidase|PH-20 homolog" hyaluronoglucosaminidase 2 Hyaluronidases 1448 1998-11-06 2018-08-02 2021-05-26 8692 ENSG00000068001 OTTHUMG00000156876 uc003czv.4 AJ000099 NM_003773 CCDS2818 Q12891 "9712871|9790770" MGI:1196334 RGD:620321 603551 HGNC:5321 "ENST00000357750.9|NM_003773.5" +HGNC:5322 HYAL3 hyaluronidase 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LUCA-3|LUCA14|Minna14" hyaluronoglucosaminidase 3 Hyaluronidases 1448 1998-09-17 2018-08-02 2018-08-02 8372 ENSG00000186792 OTTHUMG00000156936 uc003czd.3 AF040710 NM_003549 "CCDS2815|CCDS56260|CCDS56257|CCDS56259" O43820 10493834 MGI:1330288 RGD:1303334 604038 HGNC:5322 "ENST00000336307.6|NM_003549.4" +HGNC:5323 HYAL4 hyaluronidase 4 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 hyaluronoglucosaminidase 4 Hyaluronidases 1448 1999-09-16 2018-08-02 2018-08-02 23553 ENSG00000106302 OTTHUMG00000157349 uc003vlc.4 AF009010 NM_012269 CCDS5789 Q2M3T9 10493834 MGI:1924292 RGD:1303194 604510 HGNC:5323 "ENST00000223026.9|NM_012269.3" +HGNC:5324 HYAL6P hyaluronidase 6, pseudogene pseudogene pseudogene Approved 7q31.32 07q31.32 HYAL6 hyaluronidase 6 HYALP1 "hyaluronoglucosaminidase pseudogene 1|hyaluronoglucosaminidase 6, pseudogene" Hyaluronidases 1448 1999-11-16 2018-06-21 2018-08-02 2020-08-13 26062 ENSG00000228211 OTTHUMG00000154764 AF149304 NR_002731 10493834 MGI:1921659 PGOHUM00000233547 HGNC:5324 +HGNC:19368 HYDIN HYDIN axonemal central pair apparatus protein protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "DKFZp434D0513|KIAA1864|PPP1R31|CILD5" protein phosphatase 1, regulatory subunit 31 "hydrocephalus inducing|hydrocephalus inducing homolog (mouse)" Protein phosphatase 1 regulatory subunits 694 2003-06-27 2019-01-21 2021-05-26 54768 ENSG00000157423 OTTHUMG00000137584 uc021tkq.3 AK074472 NM_001198542 "CCDS10897|CCDS56004|CCDS56005|CCDS59269" Q4G0P3 "12719380|23022101" MGI:2389007 RGD:1562254 610812 316341 HGNC:19368 "ENST00000393567.7|NM_001270974.2" HGNC:19368 +HGNC:33129 HYDIN2 HYDIN axonemal central pair apparatus protein 2 (pseudogene) pseudogene pseudogene Approved 1q21.1 01q21.1 HYDINP1 "hydrocephalus inducing homolog 2 (mouse)|HYDIN, axonemal central pair apparatus protein pseudogene 1" 2006-09-05 2012-01-11 2019-01-21 2022-01-05 100288805 ENSG00000276975 OTTHUMG00000158075 AB058767 NR_103556 16938426 610813 PGOHUM00000296540 HGNC:33129 +HGNC:26948 HYI hydroxypyruvate isomerase (putative) protein-coding gene gene with protein product Approved 1p34.2 01p34.2 HT036 hydroxypyruvate isomerase homolog (E. coli) 2005-05-25 2010-06-24 2016-04-25 81888 ENSG00000178922 OTTHUMG00000007502 uc001cjo.3 NM_031207 "CCDS81313|CCDS488|CCDS53309|CCDS72771" Q5T013 10561547 MGI:1915430 RGD:1561416 619128 5.3.1.22 HGNC:26948 "ENST00000372430.9|NM_001190880.3" +HGNC:41173 HYI-AS1 HYI antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 HYI antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2014-11-19 100873923 ENSG00000229348 OTTHUMG00000007503 uc057foc.1 NR_174945 HYI-AS1 +HGNC:34403 HYKK hydroxylysine kinase protein-coding gene gene with protein product Approved 15q25.1 15q25.1 LOC123688 5-hydroxylysine kinase AGPHD1 aminoglycoside phosphotransferase domain containing 1 2009-05-22 2013-06-11 2013-06-11 2016-11-10 123688 ENSG00000188266 OTTHUMG00000177204 "BC132753|BC144383|BM045979" NM_001013619 "CCDS42063|CCDS45318" A2RU49 "18780872|22241472" MGI:2443139 RGD:1308677 614681 2.7.1.81 HGNC:34403 "ENST00000388988.9|NM_001013619.4" +HGNC:26558 HYLS1 HYLS1 centriolar and ciliogenesis associated protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ32915 hydrolethalus syndrome 1 2005-05-04 2019-01-22 2021-05-26 219844 ENSG00000198331 OTTHUMG00000165858 uc009zbv.4 AK057477 NM_145014 CCDS8467 Q96M11 "15843405|19656802" MGI:1924082 RGD:1594169 610693 122562 HGNC:26558 "ENST00000425380.7|NM_001134793.2" HGNC:26558 +HGNC:5326 HYMAI hydatidiform mole associated and imprinted non-coding RNA RNA, long non-coding Approved 6q24.2 06q24.2 NCRNA00020 non-protein coding RNA 20 hydatidiform mole associated and imprinted (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2000-06-15 2018-05-16 2021-04-13 57061 ENSG00000283122 OTTHUMG00000189750 uc063sag.1 AF241534 NR_002768 10936046 MGI:2651552 LRG_1035|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1035.xml 606546 159723 HYMAI HGNC:5326 +HGNC:16931 HYOU1 hypoxia up-regulated 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "ORP150|HSP12A|Grp170" glucose-regulated protein 170 Heat shock 70kDa proteins 583 2002-05-27 2017-05-09 10525 ENSG00000149428 OTTHUMG00000166354 uc031yhc.2 U65785 NM_006389 CCDS8408 Q9Y4L1 "9020069|10037731" MGI:108030 RGD:621146 601746 HGNC:16931 "ENST00000617285.5|NM_006389.5" +HGNC:18418 HYPK huntingtin interacting protein K protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "HSPC136|FLJ20431" Huntingtin yeast partner K C15orf63 chromosome 15 open reading frame 63 2009-06-12 2012-10-08 2012-10-08 2016-10-05 25764 ENSG00000242028 OTTHUMG00000060146 uc059inn.1 AF049613 NM_016400 CCDS10104 Q9NX55 "9700202|20154145" MGI:1914943 RGD:1311457 612784 HGNC:18418 "ENST00000442995.4|NM_016400.4" +HGNC:27696 IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) protein-coding gene gene with protein product Approved 2p25.1 02p25.1 isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 2006-11-24 2017-09-15 2022-01-10 285148 ENSG00000134330 OTTHUMG00000159076 uc002qzr.4 BC111025 NM_001039613 "CCDS42651|CCDS82418" Q2TAA2 27266874 MGI:1914982 RGD:727866 HGNC:27696 "ENST00000497473.6|NM_001039613.3" +HGNC:5329 IAPP islet amyloid polypeptide protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "AMYLIN|DAP|IAP" amylin Neuropeptides 1902 1989-05-24 2014-11-19 3375 ENSG00000121351 OTTHUMG00000169128 uc058lui.1 NM_000415 CCDS8688 P10997 MGI:96382 RGD:2854 147940 ligandId:687 HGNC:5329 "ENST00000240652.8|NM_000415.3" +HGNC:5330 IARS1 isoleucyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 ILRS isoleucine tRNA ligase 1, cytoplasmic IARS isoleucyl-tRNA synthetase "Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "131|1691|1835" 1995-07-11 2019-07-15 2019-07-15 2021-05-26 3376 ENSG00000196305 OTTHUMG00000020219 uc004art.4 AB209234 NM_002161 CCDS6694 P41252 8812440 MGI:2145219 RGD:621022 600709 6.1.1.5 HGNC:5330 "ENST00000443024.7|NM_002161.6" HGNC:5330 +HGNC:29685 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1q41 01q41 FLJ10326 isoleucine tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 2005-05-09 2007-02-26 2021-05-26 55699 ENSG00000067704 OTTHUMG00000037287 uc001hmc.4 AK022665 NM_018060 CCDS1523 Q9NSE4 MGI:1919586 RGD:1311857 612801 444729 6.1.1.5 HGNC:29685 "ENST00000366922.3|NM_018060.4" HGNC:29685 +HGNC:50474 IARS2P1 IARS2 pseudogene 1 pseudogene pseudogene Approved 8q21.3 08q21.3 isoleucyl-tRNA synthetase 2, mitochondrial pseudogene 1 2014-05-06 2019-01-21 2019-01-21 642461 ENSG00000251563 OTTHUMG00000160488 NG_028883 PGOHUM00000249423 HGNC:50474 +HGNC:53719 IATPR ITGB1 adjacent tumor promoting lncRNA non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 "TCONS_00018476|linc-ITGB1" Long non-coding RNAs with non-systematic symbols 1992 2018-08-22 2018-08-22 101929447 ENSG00000233387 OTTHUMG00000017937 NR_160030 "28829502|26601916|25893892" HGNC:53719 +HGNC:27302 IBA57 iron-sulfur cluster assembly factor IBA57 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 FLJ12734 iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa C1orf69 "chromosome 1 open reading frame 69|IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)|IBA57 homolog, iron-sulfur cluster assembly" Mitochondrial iron-sulfur assembly components 1853 2005-05-18 2011-03-11 2019-01-21 2021-05-26 200205 ENSG00000181873 OTTHUMG00000039769 uc001hsl.5 AK022796 NM_001010867 CCDS31046 Q5T440 22323289 MGI:3041174 RGD:1306000 615316 365096 HGNC:27302 "ENST00000366711.4|NM_001010867.4" HGNC:27302 +HGNC:32062 IBA57-DT IBA57 divergent transcript non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 FLJ32878 "C1orf148|IBA57-AS1" "chromosome 1 open reading frame 148|IBA57 antisense RNA 1 (head to head)" Divergent transcripts 1990 2005-07-12 2018-03-22 2018-03-22 2020-04-20 574432 ENSG00000203684 OTTHUMG00000039768 AK057440 NR_103540 B1ANH7 IBA57-AS1 HGNC:32062 +HGNC:5341 IBSP integrin binding sialoprotein protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "BSP|SP-II|BSP-II" "bone sialoprotein|bone sialoprotein II" SIBLING family 1279 1993-03-23 2016-01-12 2016-10-05 3381 ENSG00000029559 OTTHUMG00000130600 uc003hqx.5 NM_004967 CCDS3624 P21815 8406493 MGI:96389 RGD:2855 147563 HGNC:5341 "ENST00000226284.7|NM_004967.4" +HGNC:17853 IBTK inhibitor of Bruton tyrosine kinase protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "DKFZP564B116|BTBD26" BTKI "Bruton agammaglobulinemia tyrosine kinase inhibitor|inhibitor of Bruton agammaglobulinemia tyrosine kinase" "Ankyrin repeat domain containing|BTB domain containing" "403|861" 2003-08-29 2003-10-08 2015-11-27 2016-10-05 25998 ENSG00000005700 OTTHUMG00000015102 uc003pjl.2 AF235049 NM_015525 "CCDS34490|CCDS75486" Q9P2D0 11577348 MGI:1918677 RGD:1311697 606457 HGNC:17853 "ENST00000306270.12|NM_015525.4" +HGNC:31672 IBTKP1 inhibitor of Bruton tyrosine kinase pseudogene 1 pseudogene pseudogene Approved 18q12.3 18q12.3 "IBTK pseudogene 1|inhibitor of Bruton agammaglobulinemia tyrosine kinase pseudogene 1" 2010-03-19 2015-11-27 2015-11-27 100127883 NG_022990 PGOHUM00000235047 HGNC:31672 +HGNC:5343 ICA1 islet cell autoantigen 1 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "ICAp69|ICA69" "islet cell autoantigen 1 (69kD)|islet cell autoantigen 1, 69kDa" AH domain containing 1921 1992-08-24 2015-11-09 2016-10-05 3382 ENSG00000003147 OTTHUMG00000152008 uc003srq.5 NM_004968 "CCDS87478|CCDS34602|CCDS64595" Q05084 "7918678|8777998" MGI:96391 RGD:621465 147625 HGNC:5343 "ENST00000402384.8|NM_001136020.3" +HGNC:55606 ICA1-AS1 ICA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p21.3 07p21.3 Antisense RNAs 1987 2021-06-09 2021-06-10 100505938 ENSG00000244239 NR_125740 +HGNC:14442 ICA1L islet cell autoantigen 1 like protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "ALS2CR15|ALS2CR14" "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14|islet cell autoantigen 1,69kDa-like" AH domain containing 1921 2001-01-26 2006-05-26 2015-11-10 2016-10-05 130026 ENSG00000163596 OTTHUMG00000132856 uc032oqc.1 AB053317 NM_138468 "CCDS2354|CCDS74632" Q8NDH6 11586298 MGI:1917625 RGD:735110 HGNC:14442 "ENST00000358299.7|NM_001288622.3" +HGNC:5344 ICAM1 intercellular adhesion molecule 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "BB2|CD54" human rhinovirus receptor "CD molecules|Receptor ligands|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|542|594|1410" 1989-04-24 2008-07-18 2016-01-15 3383 ENSG00000090339 OTTHUMG00000180403 uc002mnq.3 NM_000201 CCDS12231 P05362 "2453850|3871395" MGI:96392 RGD:2857 147840 ligandId:6757 CD54 HGNC:5344 "ENST00000264832.8|NM_000201.3" +HGNC:5345 ICAM2 intercellular adhesion molecule 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 CD102 "CD molecules|Receptor ligands|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|542|594|1410" 1990-03-06 2015-08-28 3384 ENSG00000108622 OTTHUMG00000178865 uc002jdv.5 NM_000873 CCDS11657 P13598 1769660 MGI:96394 RGD:1359660 146630 ligandId:6756 CD102 HGNC:5345 "ENST00000579788.6|NM_001099789.2" +HGNC:5346 ICAM3 intercellular adhesion molecule 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "CDW50|ICAM-R|CD50" "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1994-05-19 2016-01-15 3385 ENSG00000076662 OTTHUMG00000180410 uc002mob.3 NM_001320605 "CCDS82290|CCDS12235" P32942 1448174 146631 CD50 HGNC:5346 "ENST00000160262.10|NM_002162.5" +HGNC:5347 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) protein-coding gene gene with protein product Approved 19p13.2 19p13.2 CD242 LW "intercellular adhesion molecule 4, Landsteiner-Wiener blood group|Landsteiner-Wiener blood group|intercellular adhesion molecule 4 (LW blood group)" "Blood group antigens|CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "454|471|594|1410" 2001-06-22 2006-02-23 2021-04-13 3386 ENSG00000105371 OTTHUMG00000180405 uc002mns.3 X93093 NM_001544 "CCDS12232|CCDS32904" Q14773 "8639917|6431896" MGI:1925619 RGD:1308971 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_809|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_809.xml" 614088 CD242 HGNC:5347 "ENST00000380770.5|NM_001544.5" +HGNC:55990 ICAM4-AS1 ICAM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 LncRNA-ECM Antisense RNAs 1987 2021-11-15 2021-11-15 123706506 ENSG00000267607 30128011 +HGNC:5348 ICAM5 intercellular adhesion molecule 5 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 TLN telencephalin TLCN "Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "594|1410" 1997-05-15 2015-11-13 2019-08-20 7087 ENSG00000105376 OTTHUMG00000180406 uc002mnu.5 U72671 NM_003259 CCDS12233 Q9UMF0 "8995416|9828136" MGI:109430 RGD:1305039 601852 HGNC:5348 "ENST00000221980.5|NM_003259.4" +HGNC:29154 ICE1 interactor of little elongation complex ELL subunit 1 protein-coding gene gene with protein product Approved 5p15.32 05p15.32 KIAA0947 KIAA0947 2009-06-19 2014-06-03 2014-11-03 2014-11-03 23379 ENSG00000164151 OTTHUMG00000161639 NM_015325.1 CCDS47187 Q9Y2F5 "10231032|23932780" MGI:2385865 RGD:1309747 617958 HGNC:29154 "ENST00000296564.9|NM_015325.3" +HGNC:29885 ICE2 interactor of little elongation complex ELL subunit 2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "FLJ11896|BRCC1" breast cancer cell 1 NARG2 NMDA receptor regulated 2 2004-12-01 2014-06-03 2014-11-03 2014-11-19 79664 ENSG00000128915 OTTHUMG00000132764 BC013684 NM_024611 "CCDS61657|CCDS10176" Q659A1 "11297529|23932780" MGI:2135947 RGD:1585038 610835 HGNC:29885 "ENST00000261520.9|NM_024611.6" +HGNC:48856 ICE2P1 interactor of little elongation complex ELL subunit 2 pseudogene 1 pseudogene pseudogene Approved 4q35.2 04q35.2 NARG2P1 NMDA receptor regulated 2 pseudogene 1 2013-06-19 2014-06-03 2014-11-03 2014-11-03 644491 ENSG00000248880 OTTHUMG00000160211 NG_022044 PGOHUM00000245794 HGNC:48856 +HGNC:48857 ICE2P2 interactor of little elongation complex ELL subunit 2 pseudogene 2 pseudogene pseudogene Approved 3p11.1 03p11.1 NARG2P2 NMDA receptor regulated 2 pseudogene 2 2013-06-19 2014-06-03 2014-11-03 2014-11-03 728432 ENSG00000242705 OTTHUMG00000159037 NG_022254 PGOHUM00000238096 HGNC:48857 +HGNC:5350 ICMT isoprenylcysteine carboxyl methyltransferase protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "PCCMT|HSTE14|PPMT" protein-S-isoprenylcysteine O-methyltransferase Methyltransferase families 1398 2000-01-20 2016-10-05 23463 ENSG00000116237 OTTHUMG00000001254 uc001amk.4 AF064084 NM_012405 CCDS61 O60725 "9614111|10441503" MGI:1888594 RGD:621618 605851 2.1.1.100 HGNC:5350 "ENST00000343813.10|NM_012405.4" +HGNC:28620 ICMT-DT ICMT divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.31 01p36.31 MGC40168 "C1orf211|NCRNA00337|LINC00337" "chromosome 1 open reading frame 211|non-protein coding RNA 337|long intergenic non-protein coding RNA 337" Divergent transcripts 1990 2006-04-03 2021-08-16 2021-08-16 2021-08-16 148645 ENSG00000225077 OTTHUMG00000001255 uc031tnm.2 BC030279 NR_103534 31217892 LINC00337 HGNC:28620 +HGNC:5351 ICOS inducible T cell costimulator protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "AILIM|CD278" activation-inducible lymphocyte immunomediatory molecule inducible T-cell costimulator CD molecules 471 2000-02-29 2017-12-06 2021-05-26 29851 ENSG00000163600 OTTHUMG00000132880 uc002vam.4 AB023135 NM_012092 CCDS2363 Q9Y6W8 "9930702|10617205" MGI:1858745 RGD:620123 "ICOSbase: Mutation registry for ICOS deficiency|http://structure.bmc.lu.se/idbase/ICOSbase/|LRG_65|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_65.xml" 604558 122565 objectId:2939 CD278 HGNC:5351 "ENST00000316386.11|NM_012092.4" HGNC:5351 +HGNC:17087 ICOSLG inducible T cell costimulator ligand protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KIAA0653|GL50|B7-H2|B7RP-1|B7H2|B7RP1|ICOS-L|CD275|B7h" "B7-related protein 1|B7 homologue 2|B7 homolog 2" ICOSL inducible T-cell costimulator ligand "CD molecules|Receptor ligands|V-set domain containing|C2-set domain containing|B7 family" "471|542|590|592|1824" 2003-12-12 2005-01-12 2017-12-06 2019-03-06 23308 ENSG00000160223 OTTHUMG00000086920 uc002zee.5 AB014553 NM_015259 "CCDS63377|CCDS63379|CCDS42952" O75144 "9734811|11007762" MGI:1354701 RGD:1562791 605717 ligandId:9593 CD275 HGNC:17087 +HGNC:5360 ID1 inhibitor of DNA binding 1, HLH protein protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ857M17.1.2|bHLHb24" "DNA-binding protein inhibitor ID-1|inhibitor of differentiation 1" inhibitor of DNA binding 1, dominant negative helix-loop-helix protein Basic helix-loop-helix proteins 420 1994-12-22 2016-03-07 2016-10-05 3397 ENSG00000125968 OTTHUMG00000032181 uc002wwg.3 NM_002165 "CCDS13186|CCDS13185" P41134 8294468 MGI:96396 RGD:2858 600349 HGNC:5360 "ENST00000376112.4|NM_002165.4" +HGNC:5361 ID2 inhibitor of DNA binding 2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "GIG8|bHLHb26" cell growth-inhibiting gene 8 "inhibitor of differentiation 2|inhibitor of DNA binding 2, dominant negative helix-loop-helix protein" Basic helix-loop-helix proteins 420 1994-12-22 2017-09-15 2017-09-15 3398 ENSG00000115738 OTTHUMG00000112454 uc002qza.4 NM_002166 CCDS1659 Q02363 8294468 MGI:96397 RGD:2859 600386 HGNC:5361 "ENST00000396290.2|NM_002166.5" +HGNC:51103 ID2-AS1 ID2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 ID2 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-07-29 2018-03-23 2018-03-23 100506299 ENSG00000235092 OTTHUMG00000151625 NR_110153 ID2-AS1 HGNC:51103 +HGNC:30656 ID2B inhibitor of DNA binding 2B, HLH protein (pseudogene) pseudogene pseudogene Approved 3p14.2 03p14.2 inhibitor of differentiation 2B "inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein|inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene)" 2004-01-12 2016-03-07 2020-04-06 84099 ENSG00000237456 OTTHUMG00000158659 M96843 NR_026582 Q14602 8224921 PGOHUM00000299047 HGNC:30656 +HGNC:5362 ID3 inhibitor of DNA binding 3, HLH protein protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "HEIR-1|bHLHb25" inhibitor of differentiation 3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein Basic helix-loop-helix proteins 420 1994-12-19 2016-03-07 2016-10-05 3399 ENSG00000117318 OTTHUMG00000003229 uc001bhh.5 X69111 NM_002167 CCDS237 Q02535 1628620 MGI:96398 RGD:2860 600277 HGNC:5362 "ENST00000374561.6|NM_002167.5" +HGNC:5363 ID4 inhibitor of DNA binding 4, HLH protein protein-coding gene gene with protein product Approved 6p22.3 06p22.3 bHLHb27 inhibitor of differentiation 4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein Basic helix-loop-helix proteins 420 1995-02-13 2016-03-07 2016-03-07 3400 ENSG00000172201 OTTHUMG00000014333 uc003ncw.5 U16153 NM_001546 CCDS4544 P47928 7665172 MGI:99414 RGD:631428 600581 HGNC:5363 "ENST00000378700.8|NM_001546.4" +HGNC:5381 IDE insulin degrading enzyme protein-coding gene gene with protein product Approved 10q23.33 10q23.33 insulysin insulin-degrading enzyme M16 metallopeptidases 1440 1990-07-03 2016-02-01 2016-10-05 3416 ENSG00000119912 OTTHUMG00000018759 uc001kia.4 M21188 NM_004969 "CCDS53554|CCDS7421" P14735 2293021 MGI:96412 RGD:2861 146680 M16.002 objectId:2371 HGNC:5381 "ENST00000265986.11|NM_004969.4" +HGNC:5382 IDH1 isocitrate dehydrogenase (NADP(+)) 1 protein-coding gene gene with protein product Approved 2q34 02q34 "isocitrate dehydrogenase 1 (NADP+), soluble|isocitrate dehydrogenase 1 (NADP+)|isocitrate dehydrogenase (NADP(+)) 1, cytosolic" Isocitrate dehydrogenases 1926 2001-06-22 2019-07-08 2021-05-26 3417 ENSG00000138413 OTTHUMG00000132943 uc002vcu.5 NM_005896 CCDS2381 O75874 MGI:96413 RGD:2862 LRG_610|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_610.xml IDH1 147700 299152 objectId:2884 1.1.1.42 HGNC:5382 "ENST00000345146.7|NM_005896.4" +HGNC:40292 IDH1-AS1 IDH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q34 02q34 IDH1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-24 2012-08-15 2014-11-19 100507475 ENSG00000231908 OTTHUMG00000154707 uc061rwz.1 "AI492612|BE465811" NR_046452 IDH1-AS1 HGNC:40292 +HGNC:5383 IDH2 isocitrate dehydrogenase (NADP(+)) 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 IDH-2 "isocitrate dehydrogenase 2 (NADP+), mitochondrial|isocitrate dehydrogenase (NADP(+)) 2, mitochondrial" Isocitrate dehydrogenases 1926 1986-01-01 2019-07-08 2022-02-11 3418 ENSG00000182054 OTTHUMG00000149815 uc002box.4 NM_001289910 "CCDS76792|CCDS10359" P48735 MGI:96414 RGD:1597139 LRG_611|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_611.xml IDH2 147650 247145 objectId:2885 1.1.1.42 HGNC:5383 "ENST00000330062.8|NM_002168.4" HGNC:5383 +HGNC:53154 IDH2-DT IDH2 divergent transcript non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Divergent transcripts 1990 2017-08-03 2017-08-03 105370966 ENSG00000259685 OTTHUMG00000172203 NR_149130 HGNC:53154 +HGNC:5384 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "H-IDH alpha|isocitric dehydrogenase|isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial|NAD+-specific ICDH|NAD(H)-specific isocitrate dehydrogenase alpha subunit|isocitrate dehydrogenase (NAD+) alpha chain" "isocitrate dehydrogenase 3 (NAD+) alpha|isocitrate dehydrogenase (NAD(+)) 3 alpha" Isocitrate dehydrogenases 1926 1995-11-02 2019-07-08 2021-05-26 3419 ENSG00000166411 OTTHUMG00000143732 uc002bdd.4 NM_005530 CCDS10297 P50213 8833160 MGI:1915084 RGD:70889 601149 1.1.1.41 HGNC:5384 "ENST00000299518.7|NM_005530.3" +HGNC:5385 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta protein-coding gene gene with protein product Approved 20p13 20p13 RP46 "isocitrate dehydrogenase 3 (NAD+) beta|isocitrate dehydrogenase (NAD(+)) 3 beta" Isocitrate dehydrogenases 1926 1995-11-02 2019-07-08 2021-05-26 3420 ENSG00000101365 OTTHUMG00000031699 uc002wgp.4 NM_001258384 "CCDS74696|CCDS82594|CCDS13031|CCDS13032" O43837 10575215 MGI:2158650 RGD:621881 604526 176228 1.1.1.41 HGNC:5385 "ENST00000380843.9|NM_006899.5" HGNC:5385 +HGNC:55798 IDH3B-DT IDH3B divergent transcript non-coding RNA RNA, long non-coding Approved 20p13 20p13 Divergent transcripts 1990 2021-07-29 2021-07-29 122152330 ENSG00000228293 +HGNC:5386 IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma protein-coding gene gene with protein product Approved Xq28 Xq28 "isocitrate dehydrogenase 3 (NAD+) gamma|isocitrate dehydrogenase (NAD(+)) 3 gamma" Isocitrate dehydrogenases 1926 1995-11-02 2019-07-08 2019-07-08 3421 ENSG00000067829 OTTHUMG00000024219 uc004fip.4 NM_004135 "CCDS44019|CCDS14730" P51553 9286695 MGI:1099463 RGD:2863 300089 1.1.1.41 HGNC:5386 "ENST00000217901.10|NM_004135.4" +HGNC:5387 IDI1 isopentenyl-diphosphate delta isomerase 1 protein-coding gene gene with protein product Approved 10p15.3 10p15.3 IPP isomerase isopentenyl-diphosphate delta isomerase 1995-11-08 2005-07-25 2015-08-25 3422 ENSG00000067064 OTTHUMG00000017536 uc001iga.4 BC006999 NM_004508 CCDS7056 Q13907 8020941 MGI:2442264 RGD:621835 604055 objectId:646 5.3.3.2 HGNC:5387 "ENST00000381344.8|NM_004508.4" +HGNC:54666 IDI1P1 IDI1 pseudogene 1 pseudogene pseudogene Approved 2q22.1 02q22.1 2019-11-21 2019-11-21 647002 ENSG00000237939 NG_021587 +HGNC:54667 IDI1P2 IDI1 pseudogene 2 pseudogene pseudogene Approved 8q11.21 08q11.21 2019-11-21 2019-11-21 100130299 ENSG00000253654 NG_022389 +HGNC:54668 IDI1P3 IDI1 pseudogene 3 pseudogene pseudogene Approved 20p13 20p13 2019-11-21 2019-11-21 100421361 ENSG00000231071 NG_024955 +HGNC:23487 IDI2 isopentenyl-diphosphate delta isomerase 2 protein-coding gene gene with protein product Approved 10p15.3 10p15.3 IPPI2 2003-11-19 2018-06-04 91734 ENSG00000148377 OTTHUMG00000017537 uc001ifv.1 AF271725 NM_033261 CCDS7055 Q9BXS1 14629038 MGI:2444315 RGD:1559783 615389 objectId:647 5.3.3.2 HGNC:23487 "ENST00000277517.2|NM_033261.3" +HGNC:30885 IDI2-AS1 IDI2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 "HT009|Em:AC022536.4" "C10orf110|IDI2-AS" "chromosome 10 open reading frame 110|IDI2 antisense RNA (non-protein coding)|IDI2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-04-20 2010-11-25 2012-08-15 2014-11-19 55853 ENSG00000232656 OTTHUMG00000017535 uc001ify.4 AF220183 NR_024628 Q9NZ38 24036268 615391 IDI2-AS1 HGNC:30885 +HGNC:31367 IDNK IDNK gluconokinase protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "bA522I20.2|hGntK" C9orf103 "chromosome 9 open reading frame 103|idnK, gluconokinase homolog (E. coli)|IDNK, gluconokinase" 2004-06-02 2012-03-30 2019-01-25 2019-01-25 414328 ENSG00000148057 OTTHUMG00000020105 uc004amu.4 BC036421 NM_001001551 "CCDS35048|CCDS59134" Q5T6J7 "23067238|24896608|26505675" MGI:1922981 RGD:1564546 611343 2.7.1.12 HGNC:31367 "ENST00000376419.5|NM_001001551.4" +HGNC:6059 IDO1 indoleamine 2,3-dioxygenase 1 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "IDO|INDO" indoleamine-pyrrole 2,3 dioxygenase 1993-05-26 2009-01-07 2009-01-07 2016-01-15 3620 ENSG00000131203 OTTHUMG00000164057 uc064mfz.1 M34455 NM_002164 CCDS47847 P14902 "2109605|8404046" MGI:96416 RGD:619989 147435 objectId:2829 1.13.11.52 HGNC:6059 "ENST00000518237.6|NM_002164.6" +HGNC:27269 IDO2 indoleamine 2,3-dioxygenase 2 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 INDOL1 indoleamine-pyrrole 2,3 dioxygenase-like 1 2006-02-14 2009-01-07 2009-01-07 2014-11-19 169355 ENSG00000188676 OTTHUMG00000141271 uc064mgi.1 AK128691 NM_194294 CCDS6114 Q6ZQW0 MGI:2142489 RGD:1596771 612129 objectId:3019 HGNC:27269 +HGNC:5389 IDS iduronate 2-sulfatase protein-coding gene gene with protein product Approved Xq28 Xq28 ID2S Hunter syndrome SIDS Sulfatases 410 2001-06-22 2008-08-01 2020-04-02 3423 ENSG00000010404 OTTHUMG00000022615 uc011mxe.3 M58342 NM_000202 "CCDS14686|CCDS14685" P22304 MGI:96417 RGD:1560491 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IDS 300823 122569 3.1.6.13 HGNC:5389 "ENST00000340855.11|NM_000202.8" HGNC:5389 +HGNC:5390 IDSP1 iduronate 2-sulfatase pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 IDS2 1995-07-11 2015-09-21 3424 ENSG00000176289 OTTHUMG00000022620 L36846 NG_001149 7814022 PGOHUM00000305383 HGNC:5390 +HGNC:5391 IDUA alpha-L-iduronidase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "MPS1|MPSI" mucopolysaccharidosis type I iduronidase, alpha-L- Glycoside hydrolases 1650 2001-06-22 2019-08-12 2021-05-26 3425 ENSG00000127415 OTTHUMG00000088901 uc003gby.5 M74715 NM_000203 "CCDS87198|CCDS3343" P35475 1832239 MGI:96418 RGD:1310943 LRG_1277|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1277.xml 252800 122572 3.2.1.76 HGNC:5391 "ENST00000514224.2|NM_000203.5" HGNC:5391 +HGNC:28871 IER2 immediate early response 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 ETR101 2004-02-10 2018-03-15 9592 ENSG00000160888 OTTHUMG00000180790 uc002mwr.4 M62831 NM_004907 CCDS12295 Q9BTL4 2061303 MGI:104815 RGD:1359581 HGNC:28871 "ENST00000292433.4|NM_004907.3" +HGNC:5392 IER3 immediate early response 3 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "IEX-1|DIF-2|PRG1|IEX-1L" 1999-09-30 2016-10-05 8870 ENSG00000137331 OTTHUMG00000031265 uc003nrn.4 AF083421 NM_003897 CCDS4689 P46695 "8603392|9703517" MGI:104814 RGD:1303321 602996 HGNC:5392 "ENST00000259874.6|NM_003897.4" +HGNC:53629 IER3-AS1 IER3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 Antisense RNAs 1987 2017-08-03 2017-08-03 105379695 ENSG00000272273 OTTHUMG00000185725 NR_149095 HGNC:53629 +HGNC:18550 IER3IP1 immediate early response 3 interacting protein 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 2005-01-18 2021-01-22 51124 ENSG00000134049 OTTHUMG00000132650 uc002lcu.4 AF371963 NM_016097 CCDS11933 Q9Y5U9 "15276200|21835305|33122427" MGI:1913441 RGD:1561565 609382 311350 HGNC:18550 "ENST00000256433.6|NM_016097.5" HGNC:18550 +HGNC:5393 IER5 immediate early response 5 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 2000-03-03 2014-11-19 51278 ENSG00000162783 OTTHUMG00000035178 uc001got.5 BC000128 NM_016545 CCDS1343 Q5VY09 "10049588|11102586" MGI:1337072 RGD:69252 607177 HGNC:5393 "ENST00000367577.7|NM_016545.5" +HGNC:23679 IER5L immediate early response 5 like protein-coding gene gene with protein product Approved 9q34.11 09q34.11 bA247A12.2 2004-08-23 2016-06-13 2016-06-13 389792 ENSG00000188483 OTTHUMG00000020773 uc010myt.2 BC013070 NM_203434 CCDS43888 Q5T953 MGI:1919750 RGD:1561058 HGNC:23679 "ENST00000372491.4|NM_203434.3" +HGNC:55825 IER5L-AS1 IER5L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Antisense RNAs 1987 2021-08-02 2021-08-02 105376290 ENSG00000204055 XR_930387 +HGNC:24970 IFFO1 intermediate filament family orphan 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 HOM-TES-103 IFFO intermediate filament family orphan Intermediate filament family orphans 614 2008-02-26 2008-09-11 2008-09-11 2021-05-12 25900 ENSG00000010295 OTTHUMG00000141264 uc001qpf.3 AF124432 NM_080730 "CCDS8550|CCDS81655|CCDS73425|CCDS41741" Q0D2I5 "8771189|3052284|31548606" MGI:2444516 RGD:1308257 610495 HGNC:24970 "ENST00000619571.5|NM_001193457.2" +HGNC:27006 IFFO2 intermediate filament family orphan 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 Intermediate filament family orphans 614 2008-09-11 2014-11-19 126917 ENSG00000169991 OTTHUMG00000002499 uc001bbd.3 "AK024480|AL080251" NM_001136265 CCDS44076 Q5TF58 14702039 MGI:2140675 RGD:1624207 HGNC:27006 "ENST00000455833.7|NM_001136265.2" +HGNC:4054 IFI6 interferon alpha inducible protein 6 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "IFI616|FAM14C|6-16|IFI-6-16" G1P3 interferon, alpha-inducible protein (clone IFI-6-16) 1990-10-16 2006-04-21 2016-03-16 2016-10-05 2537 ENSG00000126709 OTTHUMG00000003518 uc001bon.2 BC015603 NM_022873 "CCDS308|CCDS307|CCDS306" P09912 147572 HGNC:4054 "ENST00000361157.11|NM_002038.4" +HGNC:5395 IFI16 interferon gamma inducible protein 16 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "IFNGIP1|PYHIN2" "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 1993-09-29 2016-03-16 2016-10-05 3428 ENSG00000163565 OTTHUMG00000037108 uc057mgg.1 M63838 NM_005531 "CCDS1180|CCDS58039" Q16666 "1526658|7959953" "MGI:96429|MGI:2138302|MGI:3646410" 147586 objectId:2924 HGNC:5395 "ENST00000295809.12|NM_001376587.1" +HGNC:5397 IFI27 interferon alpha inducible protein 27 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "P27|FAM14D|ISG12" 1993-11-08 2016-03-16 2016-03-16 3429 ENSG00000165949 OTTHUMG00000171303 uc032bkg.2 X67325 NM_005532 CCDS32148 P40305 8358738 "MGI:1277180|MGI:1916390|MGI:1924183" RGD:69404 600009 HGNC:5397 +HGNC:19754 IFI27L1 interferon alpha inducible protein 27 like 1 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 FAM14B family with sequence similarity 14, member B 2002-11-25 2008-10-08 2016-03-16 2016-10-11 122509 ENSG00000165948 OTTHUMG00000171302 uc001ycl.4 BC015423 NM_206949 CCDS9919 Q96BM0 "MGI:1277180|MGI:1916390|MGI:1924183" 611320 HGNC:19754 "ENST00000555523.6|NM_206949.3" +HGNC:19753 IFI27L2 interferon alpha inducible protein 27 like 2 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 TLH29 FAM14A family with sequence similarity 14, member A 2002-11-25 2008-10-08 2016-03-16 2016-10-11 83982 ENSG00000119632 OTTHUMG00000171313 uc001ycq.4 AF208232 NM_032036 CCDS9920 Q9H2X8 "MGI:1277180|MGI:1916390|MGI:1924183" RGD:1559721 611319 HGNC:19753 "ENST00000238609.4|NM_032036.3" +HGNC:5398 IFI30 IFI30 lysosomal thiol reductase protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "IFI-30|GILT|IP30|MGC32056|IP-30" "gamma-interferon-inducible lysosomal thiol reductase|interferon gamma-inducible protein 30 preproprotein|legumaturain" "interferon gamma inducible protein 30|IFI30, lysosomal thiol reductase" 1999-12-09 2019-01-25 2020-11-17 10437 ENSG00000216490 OTTHUMG00000183373 uc002nic.3 J03909 NM_006332 CCDS46015 P13284 "3136170|10639150" MGI:2137648 RGD:1310758 604664 HGNC:5398 "ENST00000407280.4|NM_006332.5" +HGNC:5399 IFI35 interferon induced protein 35 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 IFP35 interferon-induced protein 35 1996-04-12 2015-11-27 2016-10-05 3430 ENSG00000068079 OTTHUMG00000167720 uc060fqu.1 BC001356 NM_005533 "CCDS82134|CCDS11450" P80217 MGI:1917360 RGD:1304553 600735 HGNC:5399 "ENST00000415816.7|NM_001330230.2" +HGNC:16938 IFI44 interferon induced protein 44 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "MTAP44|p44|TLDC5" TBC/LysM-associated domain containing 5 interferon-induced protein 44 TLDc domain containing 2055 2002-04-19 2015-11-27 2015-11-27 10561 ENSG00000137965 OTTHUMG00000009723 uc001dip.5 D28915 NM_006417 CCDS688 Q8TCB0 7925411 MGI:2443016 RGD:1310523 610468 HGNC:16938 "ENST00000370747.9|NM_006417.5" +HGNC:17817 IFI44L interferon induced protein 44 like protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "GS3686|TLDC5B" C1orf29 "chromosome 1 open reading frame 29|interferon-induced protein 44-like" TLDc domain containing 2055 2002-01-29 2004-11-12 2015-11-27 2021-04-30 10964 ENSG00000137959 OTTHUMG00000009724 uc010oro.2 AB000115 NM_006820 CCDS687 Q53G44 MGI:95975 RGD:1595861 613975 HGNC:17817 "ENST00000370751.10|NM_006820.4" +HGNC:18873 IFIH1 interferon induced with helicase C domain 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "MDA-5|Hlcd|MDA5|IDDM19" "helicard|melanoma differentiation-associated gene 5" "Caspase recruitment domain containing|RNA helicases" "959|1168" 2004-06-25 2016-03-16 2021-04-13 64135 ENSG00000115267 OTTHUMG00000132055 uc002uce.5 AF095844 NM_022168 CCDS2217 Q9BYX4 MGI:1918836 RGD:1560496 LRG_1235|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1235.xml 606951 402570 objectId:2921 HGNC:18873 "ENST00000649979.2|NM_022168.4" HGNC:18873 +HGNC:5407 IFIT1 interferon induced protein with tetratricopeptide repeats 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 GARG-16 "G10P1|IFI56|IFNAI1" interferon-induced protein with tetratricopeptide repeats 1 Tetratricopeptide repeat domain containing 769 1986-01-01 2015-11-27 2015-11-27 3434 ENSG00000185745 OTTHUMG00000018712 uc001kgi.5 M24594 NM_001548 "CCDS31243|CCDS59220" P09914 "1377167|3360121" "MGI:99450|MGI:2148249|MGI:3650685" 147690 HGNC:5407 "ENST00000371804.4|NM_001548.5" +HGNC:23442 IFIT1B interferon induced protein with tetratricopeptide repeats 1B protein-coding gene gene with protein product Approved 10q23.31 10q23.31 bA149I23.6 IFIT1L "interferon-induced protein with tetratricopeptide repeats 1-like|interferon-induced protein with tetratricopeptide repeats 1B" Tetratricopeptide repeat domain containing 769 2004-05-27 2010-03-22 2015-11-27 2015-11-27 439996 ENSG00000204010 OTTHUMG00000018709 uc001kgh.3 NM_001010987 CCDS31242 Q5T764 "MGI:99450|MGI:2148249|MGI:3650685" RGD:620599 HGNC:23442 "ENST00000371809.3|NM_001010987.2" +HGNC:5408 IFIT1P1 interferon induced protein with tetratricopeptide repeats 1 pseudogene 1 pseudogene pseudogene Approved 13q13.1 13q13.1 II56P "G13P1|IFI56P|IFIT1P" "interferon-induced protein with tetratricopeptide repeats 1, pseudogene|interferon-induced protein with tetratricopeptide repeats 1 pseudogene 1" 1989-06-06 2010-03-22 2015-11-27 2015-11-27 8373 ENSG00000215515 OTTHUMG00000016693 AF196987 NG_001215 3175763 PGOHUM00000248562 HGNC:5408 +HGNC:5409 IFIT2 interferon induced protein with tetratricopeptide repeats 2 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "IFI-54|ISG-54K|ISG-54|cig42|GARG-39" "IFI54|G10P2" interferon-induced protein with tetratricopeptide repeats 2 Tetratricopeptide repeat domain containing 769 1989-06-06 2015-11-27 2021-01-26 3433 ENSG00000119922 OTTHUMG00000018707 uc009xts.4 M14660 NM_001547 CCDS41548 P09913 "3175763|3360121" MGI:99449 RGD:1307804 147040 HGNC:5409 "ENST00000371826.4|NM_001547.5" +HGNC:5411 IFIT3 interferon induced protein with tetratricopeptide repeats 3 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "ISG60|RIG-G|CIG-49|IFI60|GARG-49|IRG2" IFIT4 "interferon-induced protein with tetratricopeptide repeats 4|interferon-induced protein with tetratricopeptide repeats 3" Tetratricopeptide repeat domain containing 769 1998-08-13 2004-07-16 2015-11-27 2015-11-27 3437 ENSG00000119917 OTTHUMG00000018708 uc001kgf.5 U52513 NM_001549 "CCDS31241|CCDS7402" O14879 "9828129|9391139" "MGI:1101055|MGI:3698419" RGD:1359681 604650 HGNC:5411 "ENST00000371818.9|NM_001549.6" +HGNC:13328 IFIT5 interferon induced protein with tetratricopeptide repeats 5 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 RI58 retinoic acid- and interferon-inducible protein (58kD) interferon-induced protein with tetratricopeptide repeats 5 Tetratricopeptide repeat domain containing 769 2003-11-06 2015-11-27 2015-11-27 24138 ENSG00000152778 OTTHUMG00000018713 uc010qnh.3 U34605 NM_012420 CCDS7403 Q13325 9398535 616135 HGNC:13328 "ENST00000371795.5|NM_012420.3" +HGNC:38020 IFIT6P interferon induced protein with tetratricopeptide repeats 6, pseudogene pseudogene pseudogene Approved 10q23.31 10q23.31 interferon-induced protein with tetratricopeptide repeats 6, pseudogene 2010-03-22 2015-11-27 2015-11-27 100128465 ENSG00000224289 OTTHUMG00000018711 NG_022187 PGOHUM00000238883 HGNC:38020 +HGNC:5412 IFITM1 interferon induced transmembrane protein 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "9-27|CD225|DSPA2a" "interferon-induced transmembrane protein 1|dispanin subfamily A member 2a" IFI17 interferon induced transmembrane protein 1 (9-27) "CD molecules|Interferon induced transmembrane proteins" "471|1598" 2000-02-11 2012-03-13 2018-03-08 8519 ENSG00000185885 OTTHUMG00000165359 uc057xel.1 J04164 NM_003641 CCDS41584 P13164 7559564 MGI:1915963 604456 CD225 HGNC:5412 "ENST00000408968.4|NM_003641.5" +HGNC:5413 IFITM2 interferon induced transmembrane protein 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "1-8D|DSPA2c" dispanin subfamily A member 2c interferon induced transmembrane protein 2 (1-8D) Interferon induced transmembrane proteins 1598 2000-02-11 2012-03-13 2021-09-14 10581 ENSG00000185201 OTTHUMG00000165357 uc001lox.5 X57351 NM_006435 CCDS41583 Q01629 "1906403|21177806" MGI:1933382 RGD:69332 605578 HGNC:5413 "ENST00000616316.3|NM_006435.3" +HGNC:5414 IFITM3 interferon induced transmembrane protein 3 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "1-8U|DSPA2b" dispanin subfamily A member 2b interferon induced transmembrane protein 3 (1-8U) Interferon induced transmembrane proteins 1598 2000-02-11 2011-05-24 2021-09-14 10410 ENSG00000142089 OTTHUMG00000165542 uc001lpa.3 X57352 NM_021034 CCDS41585 Q01628 "1906403|16326387" MGI:1913391 RGD:1595844 605579 HGNC:5414 "ENST00000399808.5|NM_021034.3" +HGNC:54538 IFITM3P1 IFITM3 pseudogene 1 pseudogene pseudogene Approved 4q13.2 04q13.2 2019-10-11 2019-10-11 728048 ENSG00000236562 NG_006204 HGNC:54538 +HGNC:54539 IFITM3P2 IFITM3 pseudogene 2 pseudogene pseudogene Approved 12p11.21 12p11.21 DSPA2D 2019-10-11 2019-10-11 2019-10-11 144383 ENSG00000223722 NG_006205 HGNC:54539 +HGNC:54541 IFITM3P3 IFITM3 pseudogene 3 pseudogene pseudogene Approved 6p21.31 06p21.31 2019-10-11 2019-10-11 100101247 ENSG00000196114 NG_006229 HGNC:54541 +HGNC:54542 IFITM3P4 IFITM3 pseudogene 4 pseudogene pseudogene Approved 7p11.2 07p11.2 2019-10-11 2019-10-11 442309 ENSG00000230191 NG_006223 HGNC:54542 +HGNC:54543 IFITM3P5 IFITM3 pseudogene 5 pseudogene pseudogene Approved 12q24.12 12q24.12 2019-10-11 2019-10-11 100101246 ENSG00000238168 NG_006225 HGNC:54543 +HGNC:54545 IFITM3P6 IFITM3P pseudogene 6 pseudogene pseudogene Approved 12q13.11 12q13.11 2019-10-11 2019-10-11 643058 ENSG00000258352 NG_006230 HGNC:54545 +HGNC:54546 IFITM3P7 IFITM3 pseudogene 7 pseudogene pseudogene Approved 1p36.11 01p36.11 2019-10-11 2019-10-11 391020 ENSG00000233419 NG_006227 HGNC:54546 +HGNC:54547 IFITM3P8 IFITM3 pseudogene 8 pseudogene pseudogene Approved 8q12.2 08q12.2 2019-10-11 2019-10-11 442389 ENSG00000271377 NG_006224 HGNC:54547 +HGNC:54548 IFITM3P9 IFITM3 pseudogene 9 pseudogene pseudogene Approved 2p16.1 02p16.1 2019-10-11 2019-10-11 442017 ENSG00000271134 NG_006228 HGNC:54548 +HGNC:21669 IFITM4P interferon induced transmembrane protein 4 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 dJ377H14.5 Interferon induced transmembrane proteins 1598 2003-11-26 2014-11-19 340198 ENSG00000235821 OTTHUMG00000031097 NR_001590 PGOHUM00000263150 HGNC:21669 +HGNC:16644 IFITM5 interferon induced transmembrane protein 5 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "fragilis4|Hrmp1|BRIL|DSPA1" dispanin subfamily A member 1 Interferon induced transmembrane proteins 1598 2006-09-21 2021-05-26 387733 ENSG00000206013 OTTHUMG00000165355 uc001low.3 "AA463818|CR747200|DY654432" NM_001025295 CCDS31323 A6NNB3 "11106657|12659663|18442316" MGI:1934923 RGD:1307900 614757 308058 HGNC:16644 "ENST00000382614.2|NM_001025295.3" HGNC:16644 +HGNC:32202 IFITM8P interferon induced transmembrane protein 8 pseudogene pseudogene pseudogene Approved 8q12.3 08q12.3 Interferon induced transmembrane proteins 1598 2005-08-26 2014-11-19 613204 ENSG00000215096 OTTHUMG00000164395 DQ031534 NG_005307 PGOHUM00000257210 HGNC:32202 +HGNC:33972 IFITM9P interferon induced transmembrane protein 9 pseudogene pseudogene pseudogene Approved 11q13.3 11q13.3 Interferon induced transmembrane proteins 1598 2008-01-31 2014-11-18 390218 ENSG00000213275 OTTHUMG00000167860 NG_006210 PGOHUM00000262863 HGNC:33972 +HGNC:40022 IFITM10 interferon induced transmembrane protein 10 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 DSPA3 dispanin subfamily A member 3 Interferon induced transmembrane proteins 1598 2011-05-06 2018-03-08 402778 ENSG00000244242 OTTHUMG00000043933 uc021qbs.3 NM_001170820 CCDS53593 A6NMD0 MGI:2444776 RGD:1563319 618293 HGNC:40022 "ENST00000340134.5|NM_001170820.4" +HGNC:5417 IFNA1 interferon alpha 1 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "IFNA@|IFL|IFN|IFN-ALPHA|IFNA13|IFN-alphaD" "IFN-alpha 1b|interferon alpha 1b" Interferons 598 1993-01-14 2016-06-13 2016-10-05 3439 ENSG00000197919 OTTHUMG00000019673 uc003zpd.2 NM_024013 CCDS6508 P01562 1385305 "MGI:107659|MGI:107664|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147660 ligandId:4955 HGNC:5417 "ENST00000276927.3|NM_024013.3" +HGNC:5423 IFNA2 interferon alpha 2 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "IFNA|IFN-alphaA" "alpha-2a interferon|interferon alpha 2b|interferon alpha A" Interferons 598 1993-01-14 2016-06-13 2016-10-05 3440 ENSG00000188379 OTTHUMG00000019674 uc003zpb.4 NM_000605 CCDS6506 P01563 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147562 ligandId:4960 HGNC:5423 "ENST00000380206.4|NM_000605.4" +HGNC:5425 IFNA4 interferon alpha 4 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "MGC142200|IFN-alpha4a" Interferons 598 1993-01-14 2016-06-13 2016-10-05 3441 ENSG00000236637 OTTHUMG00000019660 uc003zon.3 NM_021068 CCDS6498 P05014 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" RGD:1306334 147564 ligandId:4962 HGNC:5425 +HGNC:5426 IFNA5 interferon alpha 5 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFN-alphaG interferon, alpha 5 Interferons 598 1993-01-14 2016-03-16 2016-10-05 3442 ENSG00000147873 OTTHUMG00000019664 uc011lnh.3 NM_002169 CCDS6502 P01569 1385305 "MGI:107659|MGI:107664|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147565 ligandId:4963 HGNC:5426 "ENST00000610521.2|NM_002169.3" +HGNC:5427 IFNA6 interferon alpha 6 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFN-alphaK interferon, alpha 6 Interferons 598 1993-01-14 2016-03-16 2016-10-05 3443 ENSG00000120235 OTTHUMG00000019676 uc011lni.3 NM_021002 CCDS6504 P05013 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147566 ligandId:4964 HGNC:5427 +HGNC:5428 IFNA7 interferon alpha 7 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "IFNA-J|IFN-alphaJ" Interferons 598 1993-01-14 2016-06-13 2016-10-05 3444 ENSG00000214042 OTTHUMG00000019662 uc003zop.1 NM_021057 CCDS34995 P01567 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147567 ligandId:4965 HGNC:5428 "ENST00000239347.3|NM_021057.2" +HGNC:5429 IFNA8 interferon alpha 8 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFN-alphaB "interferon alpha-B''|interferon alpha type 201" interferon, alpha 8 Interferons 598 1993-01-14 2016-03-16 2016-10-05 3445 ENSG00000120242 OTTHUMG00000019677 uc003zpc.1 NM_002170 CCDS6507 P32881 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147568 ligandId:4966 HGNC:5429 "ENST00000380205.2|NM_002170.4" +HGNC:5418 IFNA10 interferon alpha 10 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFN-alphaC Interferons 598 1993-01-14 2016-06-13 2016-10-05 3446 ENSG00000186803 OTTHUMG00000019658 uc003zoq.1 NM_002171 CCDS6499 P01566 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147577 ligandId:4956 HGNC:5418 "ENST00000357374.2|NM_002171.2" +HGNC:5442 IFNA11P interferon alpha 11, pseudogene pseudogene pseudogene Approved 9p21.3 09p21.3 IFNP11 interferon pseudogene 11 Interferons 598 1993-01-14 2010-12-10 2016-06-13 2016-06-13 3461 ENSG00000231195 OTTHUMG00000019671 NG_027866 4057246 HGNC:5442 +HGNC:5443 IFNA12P interferon alpha 12, pseudogene pseudogene pseudogene Approved 9p21.3 09p21.3 IFNP12 interferon pseudogene 12 Interferons 598 1993-01-14 2010-12-10 2016-06-13 2020-04-20 158011 ENSG00000235108 OTTHUMG00000019678 NG_004681 4057246 PGOHUM00000236406 HGNC:5443 +HGNC:5419 IFNA13 interferon alpha 13 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 Interferons 598 1993-01-14 2016-06-13 2016-10-05 3447 ENSG00000233816 OTTHUMG00000019675 uc003zpa.3 NM_006900 CCDS6505 P01562 1385305 "MGI:107661|MGI:107662|MGI:107663|MGI:107666|MGI:2667155" RGD:1306135 147578 ligandId:4955 HGNC:5419 +HGNC:5420 IFNA14 interferon alpha 14 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "LEIF2H|IFN-alphaH" interferon, alpha 14 Interferons 598 1993-01-14 2016-03-16 2016-10-05 3448 ENSG00000228083 OTTHUMG00000019665 uc010mis.4 NM_002172 CCDS6501 P01570 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147579 ligandId:4957 HGNC:5420 "ENST00000380222.4|NM_002172.3" +HGNC:5421 IFNA16 interferon alpha 16 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFN-alphaO Interferons 598 1993-01-14 2016-06-13 2016-10-05 3449 ENSG00000147885 OTTHUMG00000019663 uc003zor.1 NM_002173 CCDS34996 P05015 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147580 ligandId:4958 HGNC:5421 "ENST00000380216.1|NM_002173.3" +HGNC:5422 IFNA17 interferon alpha 17 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "LEIF2C1|IFN-alphaI" Interferons 598 1993-01-14 2016-06-13 2016-10-05 3451 ENSG00000234829 OTTHUMG00000019667 uc003zos.1 NM_021268 CCDS6500 P01571 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147583 ligandId:4959 HGNC:5422 "ENST00000413767.2|NM_021268.2" +HGNC:5444 IFNA20P interferon alpha 20, pseudogene pseudogene pseudogene Approved 9p21.3 09p21.3 IFNP20 interferon pseudogene 20 Interferons 598 1993-01-14 2010-12-10 2016-06-13 2016-06-13 3463 ENSG00000226393 OTTHUMG00000019670 NG_027867 PGOHUM00000236405 HGNC:5444 +HGNC:5424 IFNA21 interferon alpha 21 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFN-alphaI leukocyte interferon protein Interferons 598 1993-01-14 2016-06-13 2016-10-05 3452 ENSG00000137080 OTTHUMG00000019653 uc003zom.2 NM_002175 CCDS6497 P01568 1385305 "MGI:107659|MGI:107661|MGI:107662|MGI:107663|MGI:107664|MGI:107666|MGI:107668|MGI:109210|MGI:1097683|MGI:2667155|MGI:2676324|MGI:3641425|MGI:3649260|MGI:3649418" 147584 ligandId:4961 HGNC:5424 "ENST00000380225.1|NM_002175.2" +HGNC:5431 IFNA22P interferon alpha 22, pseudogene pseudogene pseudogene Approved 9p21.3 09p21.3 IFNAP22 interferon, alpha pseudogene 22 Interferons 598 1993-01-14 2010-01-08 2016-06-13 2016-10-05 3453 ENSG00000224416 OTTHUMG00000019668 V00539 NG_005640 "8001965|1385305" PGOHUM00000235992 HGNC:5431 +HGNC:5432 IFNAR1 interferon alpha and beta receptor subunit 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 IFRC "IFNalpha/beta receptor 1|type I interferon receptor 1|interferon alpha/beta receptor 1" IFNAR interferon (alpha, beta and omega) receptor 1 Interferon receptors 599 1986-01-01 2016-01-29 2021-05-26 3454 ENSG00000142166 OTTHUMG00000065126 uc002yrn.4 NM_000629 CCDS13624 P17181 8181059 MGI:107658 RGD:1305399 107450 objectId:1723 HGNC:5432 "ENST00000270139.8|NM_000629.3" +HGNC:5433 IFNAR2 interferon alpha and beta receptor subunit 2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "interferon alpha/beta receptor 2|IFNalpha/beta receptor subunit 2|type I interferon receptor 2" IFNABR interferon (alpha, beta and omega) receptor 2 Interferon receptors 599 1995-05-08 2016-01-29 2021-05-26 3455 ENSG00000159110 OTTHUMG00000065127 uc002yre.5 NM_000874 "CCDS74782|CCDS13621|CCDS13622" P48551 8181059 MGI:1098243 RGD:1583177 602376 470482 objectId:1724 HGNC:5433 "ENST00000342136.9|NM_001289125.3" HGNC:5433 +HGNC:5434 IFNB1 interferon beta 1 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "IFB|IFF" IFNB interferon, beta 1, fibroblast Interferons 598 1986-01-01 2016-03-16 2016-10-05 3456 ENSG00000171855 OTTHUMG00000019652 uc003zok.4 NM_002176 CCDS6495 P01574 MGI:107657 RGD:2865 147640 ligandId:4967 HGNC:5434 "ENST00000380232.4|NM_002176.4" +HGNC:18163 IFNE interferon epsilon protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFNE1 2008-12-12 2016-06-13 2016-10-05 338376 ENSG00000184995 OTTHUMG00000019672 uc003zpg.4 AY190045 NM_176891 CCDS34997 Q86WN2 "15546383|17287131" MGI:2667156 RGD:1565065 615223 HGNC:18163 "ENST00000448696.4|NM_176891.5" +HGNC:5438 IFNG interferon gamma protein-coding gene gene with protein product Approved 12q15 12q15 Interferons 598 1986-01-01 2016-06-13 2016-10-05 3458 ENSG00000111537 OTTHUMG00000169113 uc001stw.2 NM_000619 CCDS8980 P01579 MGI:107656 RGD:2866 147570 122574 ligandId:4968 HGNC:5438 "ENST00000229135.4|NM_000619.3" +HGNC:43910 IFNG-AS1 IFNG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q15 12q15 "Tmevpg1|LincR-Ifng-3'AS|NEST" Theiler's murine encephalomyelitis virus persistence candidate gene 1 IFNG antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-02 2012-08-15 2015-04-30 100885789 ENSG00000255733 OTTHUMG00000169108 uc058qot.1 "AK124066|BF510189" NR_104124 "11735227|24056746" MGI:1934663 ifng-as1 IFNG-AS1 HGNC:43910 +HGNC:5439 IFNGR1 interferon gamma receptor 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 CD119 IFNGR "CD molecules|Interferon receptors" "471|599" 1986-01-01 2021-05-26 3459 ENSG00000027697 OTTHUMG00000015656 uc003qho.3 NM_000416 "CCDS87446|CCDS87445|CCDS5185" P15260 MGI:107655 RGD:620570 "IFNGR1base: Mutation registry for IFNγ1-receptor deficiency|http://structure.bmc.lu.se/idbase/IFNGR1base/|LRG_66|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_66.xml" 107470 122576 objectId:1725 CD119 HGNC:5439 "ENST00000367739.9|NM_000416.3" HGNC:5439 +HGNC:5440 IFNGR2 interferon gamma receptor 2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 AF-1 IFNGT1 interferon gamma receptor 2 (interferon gamma transducer 1) "Fibronectin type III domain containing|Interferon receptors" "555|599" 1986-01-01 2017-01-05 2021-05-26 3460 ENSG00000159128 OTTHUMG00000065188 uc002yrp.4 NM_001329128 "CCDS82660|CCDS33544" P38484 3136170 MGI:107654 RGD:1307532 "IFNGR2base: Mutation registry for IFNγ2-receptor deficiency|http://structure.bmc.lu.se/idbase/IFNGR2base/|LRG_67|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_67.xml" 147569 122580 objectId:1726 HGNC:5440 "ENST00000290219.11|NM_005534.4" HGNC:5440 +HGNC:21714 IFNK interferon kappa protein-coding gene gene with protein product Approved 9p21.2 09p21.2 interferon, kappa Interferons 598 2004-02-10 2016-03-16 2016-03-16 56832 ENSG00000147896 OTTHUMG00000019715 uc003zqp.3 AF384048 NM_020124 CCDS6521 Q9P0W0 "12391192|11514542" MGI:2683287 RGD:1309045 615326 ligandId:4969 HGNC:21714 "ENST00000276943.3|NM_020124.3" +HGNC:18363 IFNL1 interferon lambda 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 IL-29 IL29 "interleukin 29|interleukin 29 (interferon, lambda 1)" Interferons 598 2002-12-02 2012-11-26 2016-06-13 2016-10-11 282618 ENSG00000182393 OTTHUMG00000182807 uc002okv.4 AY129150 NM_172140 CCDS12531 Q8IU54 "MGI:3647279|MGI:2450574" RGD:6493686 607403 ligandId:4993 HGNC:18363 "ENST00000333625.3|NM_172140.2" +HGNC:18364 IFNL2 interferon lambda 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 IL-28A IL28A "interleukin 28A|interleukin 28A (interferon, lambda 2)" Interferons 598 2002-12-02 2012-11-26 2016-06-13 2016-10-11 282616 ENSG00000183709 OTTHUMG00000182806 uc002oku.2 AY129148 NM_172138 CCDS42567 Q8IZJ0 "MGI:3647279|MGI:2450574" 607401 ligandId:4991 HGNC:18364 "ENST00000331982.6|NM_172138.2" +HGNC:18365 IFNL3 interferon lambda 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "IL-28B|IL28C" IL28B "interleukin 28B|interleukin 28B (interferon, lambda 3)" Interferons 598 2002-12-02 2012-11-26 2016-06-13 2021-05-26 282617 ENSG00000197110 OTTHUMG00000182805 uc010xuu.3 AY129149 NM_172139 "CCDS12530|CCDS86765" Q8IZI9 "23291588|28394349" "MGI:3647279|MGI:2450574" RGD:1589046 LRG_1011|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1011.xml 607402 284108 ligandId:4992 HGNC:18365 "ENST00000413851.3|NM_172139.4" +HGNC:44483 IFNL3P1 interferon lambda 3 pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 IL28BP1 interleukin 28B (interferon, lambda 3) pseudogene 1 2012-11-07 2012-11-26 2016-06-13 2016-06-13 100421129 ENSG00000268510 OTTHUMG00000182804 NG_024181 PGOHUM00000234310 HGNC:44483 +HGNC:44480 IFNL4 interferon lambda 4 (gene/pseudogene) protein-coding gene gene with protein product Approved 19q13.2 19q13.2 IFNAN 2013-01-04 2016-06-13 2020-09-23 101180976 ENSG00000272395 OTTHUMG00000185299 uc060yjc.2 JN806234 NM_001276254 K9M1U5 "23291588|31776283" 615090 407416 HGNC:44480 +HGNC:45090 IFNL4P1 interferon lambda 4 pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 2014-01-03 2016-06-13 2016-06-13 101927833 ENSG00000272311 OTTHUMG00000185300 HGNC:45090 +HGNC:18584 IFNLR1 interferon lambda receptor 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "CRF2/12|IFNLR|IL-28R1" IL28RA "interleukin 28 receptor, alpha|interleukin 28 receptor, alpha (interferon, lambda receptor)|interferon, lambda receptor 1" Interferon receptors 599 2002-12-02 2012-11-26 2016-03-16 2016-03-16 163702 ENSG00000185436 OTTHUMG00000003036 uc001bis.4 AY129153 NM_170743 "CCDS248|CCDS250|CCDS249" Q8IU57 MGI:2429859 RGD:1562689 607404 objectId:1733 HGNC:18584 "ENST00000327535.6|NM_170743.4" +HGNC:32009 IFNNP1 interferon nu 1, pseudogene pseudogene pseudogene Approved 9p21.3 09p21.3 interferon, nu 1 (pseudogene) Interferons 598 2006-02-09 2016-06-13 2016-06-13 654783 ENSG00000230208 OTTHUMG00000019655 AL390882 NG_009495 15922016 PGOHUM00000235986 HGNC:32009 +HGNC:5447 IFNR interferon production regulator other unknown Approved 16 16 1986-01-01 2019-06-26 3466 "1906174|1193239" 147573 +HGNC:5448 IFNW1 interferon omega 1 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 IFN-omega 1, interferon omega-1 Interferons 598 1992-11-06 2016-06-13 2016-10-05 3467 ENSG00000177047 OTTHUMG00000019656 uc003zol.2 NM_002177 CCDS6496 P05000 1385305 "MGI:2448469|MGI:3649573|MGI:3701966|MGI:3701970|MGI:3701972|MGI:3701983" 147553 ligandId:4970 HGNC:5448 "ENST00000380229.4|NM_002177.3" +HGNC:5452 IFNWP2 interferon omega 1 pseudogene 2 pseudogene pseudogene Approved 9p21.3 09p21.3 interferon, omega 2 (pseudogene) Interferons 598 1993-01-14 2016-06-13 2016-06-13 646581 ENSG00000237691 OTTHUMG00000019679 NG_011585 8001965 HGNC:5452 +HGNC:5453 IFNWP4 interferon omega 1 pseudogene 4 pseudogene pseudogene Approved 9p21.3 09p21.3 interferon, omega 4 (pseudogene) Interferons 598 1993-01-14 2016-06-13 2016-06-13 3469 ENSG00000225027 OTTHUMG00000019654 NG_065949 PGOHUM00000236404 HGNC:5453 +HGNC:5454 IFNWP5 interferon omega 1 pseudogene 5 pseudogene pseudogene Approved 9p21.3 09p21.3 interferon, omega 5 (pseudogene) Interferons 598 1993-01-14 2016-06-13 2016-06-13 392292 ENSG00000232138 OTTHUMG00000019666 NG_016582 8001965 HGNC:5454 +HGNC:5455 IFNWP9 interferon omega 1 pseudogene 9 pseudogene pseudogene Approved 9p21.3 09p21.3 interferon, omega 9 (pseudogene) Interferons 598 1993-01-14 2016-06-13 2016-06-13 100130671 ENSG00000226597 OTTHUMG00000019659 NG_016396 "1385305|8001965" HGNC:5455 +HGNC:5449 IFNWP15 interferon omega 1 pseudogene 15 pseudogene pseudogene Approved 9p21.3 09p21.3 interferon, omega 15 (pseudogene) Interferons 598 1993-01-14 2016-06-13 2016-06-13 100130866 ENSG00000232281 OTTHUMG00000019657 NG_001150 3857460 HGNC:5449 +HGNC:5450 IFNWP18 interferon omega 1 pseudogene 18 pseudogene pseudogene Approved 9p21.3 09p21.3 pseudo-IFN-alpha-m interferon, omega 18 (pseudogene) Interferons 598 1993-01-14 2016-06-13 2016-06-13 360001 ENSG00000223684 OTTHUMG00000019661 V00531 NG_002922 1385305 HGNC:5450 +HGNC:5451 IFNWP19 interferon omega 1 pseudogene 19 pseudogene pseudogene Approved 9p21.3 09p21.3 interferon, omega 19 (pseudogene) Interferons 598 1993-01-14 2016-06-13 2016-06-13 3474 ENSG00000238271 OTTHUMG00000019680 NG_005641 1385305 PGOHUM00000236408 HGNC:5451 +HGNC:5456 IFRD1 interferon related developmental regulator 1 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "PC4|TIS7" interferon-related developmental regulator 1 Armadillo like helical domain containing 1492 1998-01-21 2016-02-03 2016-02-03 3475 ENSG00000006652 OTTHUMG00000155124 uc003vgh.4 Y10313 NM_001550 "CCDS56504|CCDS34736" O00458 9722946 MGI:1316717 RGD:2867 603502 201522 HGNC:5456 "ENST00000403825.8|NM_001550.4" HGNC:5456 +HGNC:5457 IFRD2 interferon related developmental regulator 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SKMc15|SM15|IFNRP" interferon-related protein Armadillo like helical domain containing 1492 1998-09-25 2016-06-28 2016-10-05 7866 ENSG00000214706 OTTHUMG00000156935 uc062kcu.1 U09585 NM_006764 CCDS77746 Q12894 9050919 MGI:1316708 RGD:1310222 602725 HGNC:5457 "ENST00000417626.8|NM_006764.5" +HGNC:30989 IFT20 intraflagellar transport 20 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 intraflagellar transport 20 homolog (Chlamydomonas) IFT-B2 complex 1981 2005-11-02 2014-07-03 2019-08-20 90410 ENSG00000109083 OTTHUMG00000179412 uc002haw.3 AF070643 NM_174887 "CCDS32593|CCDS58533|CCDS58534|CCDS58535|CCDS74017" Q8IY31 MGI:1915585 RGD:1309400 614394 HGNC:30989 "ENST00000395418.8|NM_001267776.2" +HGNC:21895 IFT22 intraflagellar transport 22 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FLJ14117|FLJ13225|DKFZp761N0823|FAP9" RABL5 "RAB, member RAS oncogene family-like 5|intraflagellar transport 22 homolog (Chlamydomonas)" "RAB like GTPases|IFT-B1 complex" "394|1980" 2004-01-29 2014-03-06 2014-07-03 2020-01-28 64792 ENSG00000128581 OTTHUMG00000157136 AK024179 NM_022777 "CCDS5719|CCDS47670|CCDS47671" Q9H7X7 "19240117|22076686" MGI:1914536 RGD:1305370 HGNC:21895 "ENST00000315322.10|NM_022777.4" +HGNC:18626 IFT27 intraflagellar transport 27 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "RAYL|BBS19|FAP156" RABL4 "RAB, member of RAS oncogene family-like 4|intraflagellar transport 27 homolog (Chlamydomonas)" "RAB like GTPases|IFT-B1 complex" "394|1980" 2002-05-09 2010-04-22 2014-07-03 2021-05-26 11020 ENSG00000100360 OTTHUMG00000150544 uc003apu.4 Z80897 NM_006860 "CCDS13932|CCDS54523" Q9BW83 "12529303|17276912" MGI:1914292 RGD:1308703 615870 404768 HGNC:18626 "ENST00000433985.7|NM_001177701.3" HGNC:18626 +HGNC:29669 IFT43 intraflagellar transport 43 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ32173|MGC16028" C14orf179 "chromosome 14 open reading frame 179|intraflagellar transport 43 homolog (Chlamydomonas)" IFT-A complex 1978 2006-06-19 2011-06-09 2014-07-03 2021-05-26 112752 ENSG00000119650 uc010asm.1 BC010436 NM_052873 "CCDS41973|CCDS9847|CCDS58330" Q96FT9 21378380 MGI:1923661 RGD:1307392 614068 270002 HGNC:29669 "ENST00000314067.11|NM_001102564.3" HGNC:29669 +HGNC:26146 IFT46 intraflagellar transport 46 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "C11orf2|FLJ21827|CFAP32" cilia and flagella associated protein 32 C11orf60 "chromosome 11 open reading frame 60|intraflagellar transport 46 homolog (Chlamydomonas)" "Cilia and flagella associated|IFT-B1 complex" "1491|1980" 2006-03-09 2010-04-22 2014-07-03 2014-11-19 56912 ENSG00000118096 OTTHUMG00000166408 uc001ptp.2 AL136934 NM_020153 "CCDS53718|CCDS8399" Q9NQC8 "10873569|19253336" MGI:1923818 RGD:1307682 HGNC:26146 "ENST00000264021.8|NM_001168618.2" +HGNC:15901 IFT52 intraflagellar transport 52 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CGI-53|NGD5|dJ1028D15.1|NGD2" C20orf9 "chromosome 20 open reading frame 9|intraflagellar transport 52 homolog (Chlamydomonas)" IFT-B1 complex 1980 2001-06-21 2005-11-02 2014-07-03 2021-05-26 51098 ENSG00000101052 OTTHUMG00000032513 uc002xkw.4 AF151811 NM_016004 CCDS33470 Q9Y366 10810093 MGI:2387217 RGD:1311004 617094 470484 HGNC:15901 "ENST00000373030.8|NM_016004.5" HGNC:15901 +HGNC:17367 IFT57 intraflagellar transport 57 protein-coding gene gene with protein product Approved 3q13.12-q13.13 03q13.12-q13.13 "FLJ10147|HIPPI|MHS4R2" ESRRBL1 "estrogen-related receptor beta like 1|intraflagellar transport 57 homolog (Chlamydomonas)" IFT-B2 complex 1981 2002-01-18 2005-11-02 2014-07-03 2018-02-13 55081 ENSG00000114446 OTTHUMG00000159223 uc003dwx.4 AK001009 NM_018010 CCDS2951 Q9NWB7 MGI:1921166 RGD:1305947 606621 470486 HGNC:17367 "ENST00000264538.4|NM_018010.4" +HGNC:21424 IFT74 intraflagellar transport 74 protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "CMG1|CMG-1|FLJ22621" capillary morphogenesis protein 1 CCDC2 "coiled-coil domain containing 2|intraflagellar transport 74 homolog (Chlamydomonas)" IFT-B1 complex 1980 2003-09-25 2005-11-02 2014-07-03 2021-05-26 80173 ENSG00000096872 OTTHUMG00000021028 uc010mja.4 AK023707 NM_025103 "CCDS47955|CCDS43793" Q96LB3 11683410 MGI:1914944 RGD:1359704 608040 470488 HGNC:21424 "ENST00000380062.10|NM_025103.4" HGNC:21424 +HGNC:49806 IFT74-AS1 IFT74 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p21.2 09p21.2 Antisense RNAs 1987 2014-03-06 2014-03-06 101929602 ENSG00000234676 OTTHUMG00000019709 "AA960898|AI214381" NR_121605 IFT74-AS1 HGNC:49806 +HGNC:29262 IFT80 intraflagellar transport 80 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "KIAA1374|FAP167" WDR56 "WD repeat domain 56|intraflagellar transport 80 homolog (Chlamydomonas)" "WD repeat domain containing|IFT-B2 complex" "362|1981" 2005-02-25 2005-11-02 2014-07-03 2021-05-26 57560 ENSG00000068885 OTTHUMG00000158953 uc062pnb.1 AB037795 NM_020800 "CCDS54668|CCDS3188" Q9P2H3 10718198 MGI:1915509 RGD:1312006 611177 160278 HGNC:29262 "ENST00000326448.12|NM_020800.3" HGNC:29262 +HGNC:14313 IFT81 intraflagellar transport 81 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "CDV-1R|MGC4027" CDV1 "carnitine deficiency-associated, expressed in ventricle 1|intraflagellar transport 81 homolog (Chlamydomonas)" IFT-B1 complex 1980 2001-01-04 2005-11-02 2014-07-03 2021-05-26 28981 ENSG00000122970 OTTHUMG00000169326 uc001tqi.4 AF139540 NM_014055 "CCDS9142|CCDS41831" Q8WYA0 11130971 MGI:1098597 RGD:727862 605489 470490 HGNC:14313 "ENST00000242591.10|NM_014055.4" HGNC:14313 +HGNC:20606 IFT88 intraflagellar transport 88 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "hTg737|Tg737|D13S1056E|MGC26259" polaris homolog TTC10 "tetratricopeptide repeat domain 10|intraflagellar transport 88 homolog (Chlamydomonas)" "Tetratricopeptide repeat domain containing|IFT-B1 complex" "769|1980" 2004-04-16 2005-11-02 2014-07-03 2021-05-26 8100 ENSG00000032742 OTTHUMG00000016517 uc001uni.4 AK058172 NM_006531 "CCDS31945|CCDS31944" Q13099 7633404 MGI:98715 RGD:1309717 600595 HGNC:20606 "ENST00000351808.10|NM_006531.5" HGNC:20606 +HGNC:13556 IFT122 intraflagellar transport 122 protein-coding gene gene with protein product Approved 3q21.3-q22.1 03q21.3-q22.1 "WDR140|WDR10p|SPG|FAP80" WDR10 "WD repeat domain 10|intraflagellar transport 122 homolog (Chlamydomonas)" "WD repeat domain containing|IFT-A complex" "362|1978" 2001-04-05 2005-11-02 2014-07-03 2021-05-26 55764 ENSG00000163913 OTTHUMG00000159516 uc003emm.5 AF244930 NM_018262 "CCDS3061|CCDS3060|CCDS63770|CCDS3059|CCDS3062" Q9HBG6 11242542 MGI:1932386 RGD:1311302 606045 235207 HGNC:13556 "ENST00000348417.7|NM_052989.3" HGNC:13556 +HGNC:29077 IFT140 intraflagellar transport 140 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "gs114|KIAA0590" WDTC2 "WD and tetratricopeptide repeats 2|intraflagellar transport 140 homolog (Chlamydomonas)" "WD repeat domain containing|IFT-A complex" "362|1978" 2005-05-26 2005-11-02 2014-07-03 2021-05-26 9742 ENSG00000187535 OTTHUMG00000128585 uc002cmb.4 AB011162 NM_014714 CCDS10439 Q96RY7 9628581 MGI:2146906 RGD:2318759 614620 302892 HGNC:29077 "ENST00000426508.7|NM_014714.4" HGNC:29077 +HGNC:30391 IFT172 intraflagellar transport 172 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "SLB|wim|osm-1|NPHP17|BBS20" wimple homolog intraflagellar transport 172 homolog (Chlamydomonas) "WD repeat domain containing|IFT-B2 complex" "362|1981" 2005-11-02 2014-07-03 2021-05-26 26160 ENSG00000138002 OTTHUMG00000128425 uc002rku.4 AB033005 NM_015662 CCDS1755 Q9UG01 "10788441|10574461|24140113|26763875" MGI:2682064 RGD:620744 607386 371219 HGNC:30391 "ENST00000260570.8|NM_015662.3" HGNC:30391 +HGNC:25142 IFTAP intraflagellar transport associated protein protein-coding gene gene with protein product Approved 11p12 11p12 "FLJ38678|HEPIS|NWC" C11orf74 chromosome 11 open reading frame 74 2006-03-16 2019-11-14 2019-11-14 2019-11-14 119710 ENSG00000166352 OTTHUMG00000166397 uc031pzn.2 "AK095997|BC009561" NM_138787 "CCDS60762|CCDS7904" Q86VG3 "30476139|15971274|26703212|18433331" MGI:1915420 RGD:1309730 619270 HGNC:25142 "ENST00000334307.10|NM_138787.4" +HGNC:5461 IGBP1 immunoglobulin binding protein 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 α4 alpha 4 IBP1 immunoglobulin (CD79A) binding protein 1 Protein phosphatase 2 modulatory subunits 1265 1997-09-05 2017-01-13 2021-05-26 3476 ENSG00000089289 OTTHUMG00000021767 uc004dxv.4 Y08915 NM_001370192 CCDS14396 P78318 9441740 MGI:1346500 RGD:62011 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGBP1 300139 122584 HGNC:5461 "ENST00000356413.5|NM_001551.3" HGNC:5461 +HGNC:40295 IGBP1-AS1 IGBP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 IGBP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100873991 ENSG00000203588 OTTHUMG00000021766 uc064zsd.1 IGBP1-AS1 +HGNC:40294 IGBP1-AS2 IGBP1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 IGBP1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 106478965 ENSG00000220925 OTTHUMG00000021762 uc064zsc.1 IGBP1-AS2 +HGNC:19709 IGBP1P1 immunoglobulin (CD79A) binding protein 1 pseudogene 1 pseudogene pseudogene Approved 14q13.2 14q13.2 C14orf19 chromosome 14 open reading frame 19 2002-11-18 2011-11-25 2011-11-25 2011-11-25 280655 ENSG00000226677 OTTHUMG00000170820 AY168620 NR_002937 15820313 PGOHUM00000248129 HGNC:19709 +HGNC:43611 IGBP1P2 immunoglobulin (CD79A) binding protein 1 pseudogene 2 pseudogene pseudogene Approved 17q22 17q22 2011-11-25 2020-04-06 645545 ENSG00000266826 OTTHUMG00000179246 NM_001395966 PGOHUM00000259190 HGNC:43611 +HGNC:43612 IGBP1P3 immunoglobulin (CD79A) binding protein 1 pseudogene 3 pseudogene pseudogene Approved 3p22.3 03p22.3 2011-11-25 2011-11-25 391526 ENSG00000231552 OTTHUMG00000155898 NG_022199 PGOHUM00000237574 HGNC:43612 +HGNC:43613 IGBP1P4 immunoglobulin (CD79A) binding protein 1 pseudogene 4 pseudogene pseudogene Approved 4q21.22 04q21.22 2011-11-25 2011-11-25 391672 ENSG00000250325 OTTHUMG00000160978 NG_022017 PGOHUM00000245612 HGNC:43613 +HGNC:43614 IGBP1P5 immunoglobulin (CD79A) binding protein 1 pseudogene 5 pseudogene pseudogene Approved 4p15.2 04p15.2 2011-11-25 2011-11-25 391642 ENSG00000250858 OTTHUMG00000160327 NG_022053 PGOHUM00000245871 HGNC:43614 +HGNC:9700 IGDCC3 immunoglobulin superfamily DCC subclass member 3 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 HsT18880 PUNC putative neuronal cell adhesion molecule "Fibronectin type III domain containing|I-set domain containing" "555|593" 1999-06-09 2009-01-08 2016-04-28 2016-04-28 9543 ENSG00000174498 OTTHUMG00000133137 uc002aos.2 AF063936 NM_004884 CCDS10205 Q8IVU1 9922388 MGI:1202390 RGD:1307338 604184 HGNC:9700 "ENST00000327987.9|NM_004884.4" +HGNC:13770 IGDCC4 immunoglobulin superfamily DCC subclass member 4 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "NOPE|LOC57722" likely ortholog of mouse neighbor of Punc E11 immunoglobulin superfamily, DCC subclass, member 4 "Fibronectin type III domain containing|I-set domain containing" "555|593" 2009-01-08 2016-04-28 2016-04-28 57722 ENSG00000103742 OTTHUMG00000133136 uc002aou.2 NM_020962 CCDS10206 Q8TDY8 MGI:1858497 RGD:1310919 616810 HGNC:13770 "ENST00000352385.3|NM_020962.3" +HGNC:5464 IGF1 insulin like growth factor 1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "IGF1A|IGFI|IGF-I|IGF" somatomedin C insulin-like growth factor 1 (somatomedin C) Neuropeptides 1902 1986-01-01 2015-11-23 2021-05-26 3479 ENSG00000017427 OTTHUMG00000149910 uc001tjo.3 X00173 NM_000618 "CCDS44960|CCDS44961|CCDS9091" P05019 "2982726|6358902" MGI:96432 RGD:2868 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGF1 147440 122587 ligandId:4971 HGNC:5464 "ENST00000337514.11|NM_000618.5" HGNC:5464 +HGNC:5465 IGF1R insulin like growth factor 1 receptor protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "JTK13|CD221|IGFIR|MGC18216|IGFR" insulin-like growth factor 1 receptor "Receptor tyrosine kinases|CD molecules|Fibronectin type III domain containing|MicroRNA protein coding host genes" "321|471|555|1691" 1988-07-07 2015-11-23 2021-05-26 3480 ENSG00000140443 OTTHUMG00000149851 uc002bul.4 M69229 NM_000875 "CCDS73785|CCDS10378" P08069 1316909 MGI:96433 RGD:2869 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGF1R|LRG_1055|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1055.xml" 147370 138578 objectId:1801 CD221 HGNC:5465 "ENST00000650285.1|NM_000875.5" HGNC:5465 +HGNC:5466 IGF2 insulin like growth factor 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ44734|IGF-II" "somatomedin A|preptin" C11orf43 "chromosome 11 open reading frame 43|insulin-like growth factor 2" "MicroRNA protein coding host genes|Neuropeptides" "1691|1902" 2001-06-22 2015-11-23 2021-05-26 3481 ENSG00000167244 OTTHUMG00000009395 uc001lvg.4 "M29645|AK025719" NM_000612 "CCDS7728|CCDS44517" P01344 "2450353|3167054" MGI:96434 RGD:2870 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGF2|LRG_1031|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1031.xml" 147470 159729 ligandId:4972 HGNC:5466 "ENST00000416167.7|NM_000612.6" HGNC:5466 +HGNC:14062 IGF2-AS IGF2 antisense RNA non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 "PEG8|IGF2-AS1" "insulin-like growth factor 2 antisense 1 (non-protein coding)|IGF2 antisense RNA 1 (non-protein coding)" IGF2AS "insulin-like growth factor 2, antisense|IGF2 antisense RNA (non-protein coding)" Antisense RNAs 1987 2000-11-28 2012-04-04 2012-08-15 2019-10-30 51214 ENSG00000099869 OTTHUMG00000009557 uc001lvk.3 AB030733 NR_028043 Q6U949 10731720 MGI:1195257 610146 IGF2AS IGF2-AS HGNC:14062 +HGNC:28866 IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 IMP-1 IGF II mRNA binding protein 1 insulin-like growth factor 2 mRNA binding protein 1 RNA binding motif containing 725 2006-02-09 2015-11-23 2015-11-23 10642 ENSG00000159217 OTTHUMG00000161173 uc002iom.4 AF198254 NM_006546 "CCDS11543|CCDS54138" Q9NZI8 "9891060|11992722" MGI:1890357 RGD:708580 608288 HGNC:28866 "ENST00000290341.8|NM_006546.4" +HGNC:28867 IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "IMP-2|p62|P62" IGF II mRNA binding protein 2 insulin-like growth factor 2 mRNA binding protein 2 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2006-02-09 2015-11-23 2021-01-26 10644 ENSG00000073792 OTTHUMG00000074025 uc003fpo.4 BC021290 NM_006548 "CCDS3273|CCDS77869|CCDS77870|CCDS33903" Q9Y6M1 "10190901|9891060" MGI:1890358 RGD:1305614 608289 HGNC:28867 "ENST00000382199.7|NM_006548.6" HGNC:28867 +HGNC:32674 IGF2BP2-AS1 IGF2BP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.2 03q27.2 FLJ32900 C3orf65 chromosome 3 open reading frame 65 Antisense RNAs 1987 2006-03-30 2014-10-01 2014-10-01 2014-11-19 646600 ENSG00000163915 OTTHUMG00000156643 AK057462 NR_027317 Q96M15 IGF2BP2-AS1 HGNC:32674 +HGNC:28868 IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "IMP-3|CT98|IMP3" "IGF II mRNA binding protein 3|cancer/testis antigen 98" insulin-like growth factor 2 mRNA binding protein 3 RNA binding motif containing 725 2006-02-09 2015-11-23 2015-11-23 10643 ENSG00000136231 OTTHUMG00000128445 uc003swg.4 AF117108 NM_006547 CCDS5382 O00425 "9891060|9178771" MGI:1890359 RGD:1306512 608259 HGNC:28868 "ENST00000258729.8|NM_006547.3" +HGNC:5467 IGF2R insulin like growth factor 2 receptor protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "CD222|MPRI|MPR1|CIMPR|M6P-R|CI-M6PR|CI-MPR|MPR300" cation-independent mannose-6 phosphate receptor insulin-like growth factor 2 receptor "CD molecules|MRH domain containing " "471|1233" 1988-07-07 2015-11-23 2021-04-13 3482 ENSG00000197081 OTTHUMG00000015945 uc003qta.4 J03528 NM_000876 CCDS5273 P11717 MGI:96435 RGD:2871 LRG_1036|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1036.xml 147280 CD222 HGNC:5467 "ENST00000356956.6|NM_000876.4" +HGNC:5468 IGFALS insulin like growth factor binding protein acid labile subunit protein-coding gene gene with protein product Approved 16p13.3 16p13.3 ALS insulin-like growth factor binding protein, acid labile subunit 1997-11-28 2015-11-23 2021-05-26 3483 ENSG00000099769 OTTHUMG00000128638 uc002cmy.4 M86826 NM_001146006 "CCDS10446|CCDS53982" P35858 "1379671|16114275" MGI:107973 RGD:68429 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGFALS 601489 159982 HGNC:5468 "ENST00000215539.4|NM_004970.3" HGNC:5468 +HGNC:55655 IGFBP-AS1 IGFBP5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2021-06-30 2021-06-30 101928278 ENSG00000236886 XR_001739169 +HGNC:5469 IGFBP1 insulin like growth factor binding protein 1 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "IGF-BP25|AFBP|hIGFBP-1|PP12" "placental protein 12|amniotic fluid binding protein|alpha-pregnancy-associated endometrial globulin|growth hormone independent-binding protein|binding protein-28|binding protein-26|binding protein-25|IGF-binding protein 1" IBP1 insulin-like growth factor binding protein 1 Insulin like growth factor binding proteins 1065 1988-11-30 2015-11-12 2015-11-12 3484 ENSG00000146678 OTTHUMG00000152343 uc003tnp.4 NM_000596 CCDS5504 P08833 2461294 MGI:96436 RGD:2872 146730 I31.951 HGNC:5469 "ENST00000275525.8|NM_000596.4" +HGNC:5471 IGFBP2 insulin like growth factor binding protein 2 protein-coding gene gene with protein product Approved 2q35 02q35 IBP2 "insulin-like growth factor binding protein 2 (36kD)|insulin-like growth factor binding protein 2, 36kDa|insulin-like growth factor binding protein 2" Insulin like growth factor binding proteins 1065 1991-07-09 2015-11-12 2015-11-12 3485 ENSG00000115457 OTTHUMG00000155341 uc061sgd.1 NM_000597 CCDS82570 P18065 1697583 MGI:96437 RGD:2873 146731 I31.953 HGNC:5471 "ENST00000233809.9|NM_000597.3" +HGNC:5472 IGFBP3 insulin like growth factor binding protein 3 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "IBP3|BP-53" "growth hormone-dependent binding protein|acid stable subunit of the 140 K IGF complex|binding protein 53|binding protein 29|IGF-binding protein 3" insulin-like growth factor binding protein 3 Insulin like growth factor binding proteins 1065 1991-07-09 2015-11-12 2021-04-13 3486 ENSG00000146674 OTTHUMG00000023769 uc003tns.4 NM_001013398 "CCDS34632|CCDS5505" P17936 1695633 MGI:96438 RGD:2874 LRG_68|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_68.xml 146732 I31.952 HGNC:5472 "ENST00000613132.5|NM_000598.5" +HGNC:5473 IGFBP4 insulin like growth factor binding protein 4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "IBP4|BP-4|HT29-IGFBP|IGFBP-4" IGF-binding protein 4 "insulin-like growth factor-binding protein 4|insulin-like growth factor binding protein 4" Insulin like growth factor binding proteins 1065 1991-07-09 2015-11-12 2015-11-12 3487 ENSG00000141753 OTTHUMG00000133326 uc002hus.4 M38177 NM_001552 CCDS11367 P22692 "1707125|1704481" MGI:96439 RGD:2875 146733 I31.952 HGNC:5473 "ENST00000269593.5|NM_001552.3" +HGNC:5474 IGFBP5 insulin like growth factor binding protein 5 protein-coding gene gene with protein product Approved 2q35 02q35 insulin-like growth factor binding protein 5 Insulin like growth factor binding proteins 1065 1991-07-09 2015-11-12 2015-11-12 3488 ENSG00000115461 OTTHUMG00000133058 uc002vgj.5 NM_000599 CCDS2405 P24593 7511611 MGI:96440 RGD:2876 146734 I31.952 HGNC:5474 "ENST00000233813.5|NM_000599.4" +HGNC:5475 IGFBP6 insulin like growth factor binding protein 6 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 insulin-like growth factor binding protein 6 Insulin like growth factor binding proteins 1065 1991-07-09 2015-11-12 2016-10-05 3489 ENSG00000167779 OTTHUMG00000169773 uc001sbu.2 NM_002178 CCDS8846 P24592 "1850258|10087296" MGI:96441 RGD:2877 146735 I31.952 HGNC:5475 "ENST00000301464.4|NM_002178.3" +HGNC:5476 IGFBP7 insulin like growth factor binding protein 7 protein-coding gene gene with protein product Approved 4q12 04q12 "MAC25|IGFBP-7|PSF|FSTL2" insulin-like growth factor binding protein 7 I-set domain containing 593 1998-03-02 2015-11-12 2015-11-12 3490 ENSG00000163453 OTTHUMG00000128772 uc003hcn.4 S75725 NM_001253835 "CCDS58900|CCDS3512" Q16270 "7694637|7980422" MGI:1352480 RGD:1306201 602867 284258 HGNC:5476 "ENST00000295666.6|NM_001553.3" HGNC:5476 +HGNC:40296 IGFBP7-AS1 IGFBP7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q12 04q12 Antisense RNAs 1987 2013-09-17 2014-11-19 255130 ENSG00000245067 OTTHUMG00000161143 NR_034081 IGFBP7-AS1 HGNC:40296 +HGNC:20081 IGFBPL1 insulin like growth factor binding protein like 1 protein-coding gene gene with protein product Approved 9p13.1 09p13.1 bA113O24.1 "insulin-like growth factor binding protein-like 1|insulin like growth factor binding protein-like 1" I-set domain containing 593 2004-04-16 2016-06-09 2018-11-16 347252 ENSG00000137142 OTTHUMG00000019937 uc004aaz.4 NM_001007563 CCDS35017 Q8WX77 MGI:1933198 RGD:1305656 610413 HGNC:20081 "ENST00000377694.2|NM_001007563.3" +HGNC:24093 IGFL1 IGF like family member 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 UNQ644 IGF like family 1836 2006-07-14 2015-11-13 2015-11-13 374918 ENSG00000188293 OTTHUMG00000182501 uc002pee.3 AY359013 NM_198541 CCDS46123 Q6UW32 12975309 610544 HGNC:24093 "ENST00000437936.2|NM_198541.2" +HGNC:32956 IGFL1P1 IGF like family member 1 pseudogene 1 pseudogene pseudogene Approved 19q13.32 19q13.32 IGFL-5P 2006-07-14 2015-11-13 2016-07-26 727703 ENSG00000268879 OTTHUMG00000182497 NG_028705 16890402 PGOHUM00000295392 HGNC:32956 +HGNC:32957 IGFL1P2 IGF like family member 1 pseudogene 2 pseudogene pseudogene Approved 19q13.32 19q13.32 IGFL-6P 2006-07-14 2015-11-13 2016-07-26 727704 ENSG00000268238 OTTHUMG00000182502 NG_028698 16890402 PGOHUM00000295053 HGNC:32957 +HGNC:32929 IGFL2 IGF like family member 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 UNQ645 IGF like family 1836 2006-07-14 2015-11-13 2016-07-25 147920 ENSG00000204866 OTTHUMG00000182492 uc002peb.4 AY672112 NM_001002915 "CCDS46122|CCDS46121" Q6UWQ7 14702039 MGI:2685426 610545 HGNC:32929 "ENST00000377693.5|NM_001135113.2" +HGNC:52559 IGFL2-AS1 IGFL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.32 19q13.32 AC006262.5 Antisense RNAs 1987 2016-11-08 2020-09-25 645553 ENSG00000268621 OTTHUMG00000182496 NR_135234 32956593 HGNC:52559 +HGNC:32930 IGFL3 IGF like family member 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 UNQ483 IGF like family 1836 2006-07-14 2015-11-13 2016-07-25 388555 ENSG00000188624 OTTHUMG00000172904 uc002pea.1 AY358434 NM_207393 CCDS33058 Q6UXB1 14702039 MGI:2685426 RGD:2324129 610546 HGNC:32930 "ENST00000341415.3|NM_207393.2" +HGNC:32931 IGFL4 IGF like family member 4 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 IGF like family 1836 2006-07-14 2015-11-13 2020-04-01 444882 ENSG00000204869 OTTHUMG00000182491 uc002pdy.1 AY672114 NM_001002923 CCDS33057 Q6B9Z1 14702039 MGI:2685426 610547 HGNC:32931 "ENST00000377697.2|NM_001002923.3" +HGNC:23620 IGFLR1 IGF like family receptor 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ22573 "U2AF1L4|TMEM149" "U2(RNU2) small nuclear RNA auxiliary factor 1-like 4|transmembrane protein 149" 2003-11-28 2011-04-04 2015-11-13 2015-11-13 79713 ENSG00000126246 OTTHUMG00000182064 uc002obd.5 AK026226 NM_024660 "CCDS12472|CCDS86751|CCDS86752" Q9H665 21454693 MGI:3655979 RGD:1563574 614143 HGNC:23620 "ENST00000246532.6|NM_024660.4" +HGNC:24607 IGFN1 immunoglobulin like and fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZp434B1231|EEF1A2BP1" "Fibronectin type III domain containing|I-set domain containing" "555|593" 2008-02-21 2019-02-21 2019-02-21 91156 ENSG00000163395 OTTHUMG00000035728 uc001gwc.3 AY245430 NM_178275 CCDS53455 Q86VF2 MGI:3045352 RGD:1565384 617309 470492 HGNC:24607 "ENST00000335211.9|NM_001164586.2" +HGNC:5477 IGH immunoglobulin heavy locus protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "IGHDY1|IGH@" Immunoglobulin heavy locus at 14q32.33 349 1989-06-30 2013-03-05 2013-03-05 3492 NG_001019 "146910|147010|147070" 201163 HGNC:5477 +HGNC:5478 IGHA1 immunoglobulin heavy constant alpha 1 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2014-11-19 3493 ENSG00000211895 OTTHUMG00000152494 uc059gcy.1 J00220 NG_001019 P01876 146900 IGHA1 HGNC:5478 +HGNC:5479 IGHA2 immunoglobulin heavy constant alpha 2 (A2m marker) other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2014-11-19 3494 ENSG00000211890 OTTHUMG00000152472 uc059gck.1 J00221 NG_001019 P01877 147000 IGHA2 HGNC:5479 +HGNC:5480 IGHD immunoglobulin heavy constant delta other immunoglobulin gene Approved 14q32.33 14q32.33 "FLJ00382|FLJ46727|MGC29633" "immunoglobulin delta|constant region of heavy chain of IgD" Immunoglobulin heavy locus at 14q32.33 349 1988-10-01 2014-11-19 3495 ENSG00000211898 OTTHUMG00000152538 uc059gdn.1 K02875 NG_001019 P01880 3922054 MGI:96447 IMGT; the international ImMunoGeneTics information system ®|http://www.imgt.org 147170 IGHD HGNC:5480 +HGNC:5482 IGHD1-1 immunoglobulin heavy diversity 1-1 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD11 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28510 ENSG00000236170 OTTHUMG00000152359 uc059gfi.1 X97051 NG_001019 P0DOY5 3138112 IGHD1-1 HGNC:5482 +HGNC:5486 IGHD1-7 immunoglobulin heavy diversity 1-7 other immunoglobulin gene Approved 14q32.33 14q32.33 "DM1|IGHD17" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-18 28509 ENSG00000237197 OTTHUMG00000152357 uc059gfa.1 X13972 NG_001019 3243276 IGHD1-7 HGNC:5486 +HGNC:5483 IGHD1-14 immunoglobulin heavy diversity 1-14 (non-functional) other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD114|DM2" immunoglobulin heavy diversity 1-14 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2008-09-12 2014-11-18 28508 ENSG00000227108 OTTHUMG00000152369 uc059get.1 X13972 NG_001019 3243276 IGHD1-14 HGNC:5483 +HGNC:5484 IGHD1-20 immunoglobulin heavy diversity 1-20 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD120 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28507 ENSG00000237020 OTTHUMG00000152432 uc059gem.1 X97051 NG_001019 3138112 IGHD1-20 HGNC:5484 +HGNC:5485 IGHD1-26 immunoglobulin heavy diversity 1-26 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD126 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28506 ENSG00000211907 OTTHUMG00000152429 uc059gef.1 X97051 NG_001019 IGHD1-26 HGNC:5485 +HGNC:5487 IGHD1OR15-1A immunoglobulin heavy diversity 1/OR15-1A (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHD1/OR15-1A|IGHD1OR151A" immunoglobulin heavy diversity 1/OR15-1A Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-10 2013-12-06 28335 ENSG00000271336 OTTHUMG00000184580 uc059got.1 X55575 IGHD1/OR15-1a +HGNC:5488 IGHD1OR15-1B immunoglobulin heavy diversity 1/OR15-1B (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHD1/OR15-1B|IGHD1OR151B" immunoglobulin heavy diversity 1/OR15-1B Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-10 2013-12-06 28334 ENSG00000270185 OTTHUMG00000184585 uc059gpu.1 X55576 2114977 IGHD1/OR15-1b +HGNC:5490 IGHD2-2 immunoglobulin heavy diversity 2-2 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD22 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28505 ENSG00000211931 OTTHUMG00000152356 uc059gff.1 J00232 NG_001019 "7312051|3138112" IGHD2-2 HGNC:5490 +HGNC:5492 IGHD2-8 immunoglobulin heavy diversity 2-8 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD28|DLR1" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-18 28504 ENSG00000211925 OTTHUMG00000152361 uc059gez.1 X13972 NG_001019 3243276 IGHD2-8 HGNC:5492 +HGNC:5489 IGHD2-15 immunoglobulin heavy diversity 2-15 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD215|D2" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28503 ENSG00000211918 OTTHUMG00000152430 uc059ges.1 J00234 NG_001019 7312051 IGHD2-15 HGNC:5489 +HGNC:5491 IGHD2-21 immunoglobulin heavy diversity 2-21 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD221 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-18 28502 ENSG00000211912 OTTHUMG00000152428 uc059gek.1 J00235 NG_001019 7312051 IGHD2-21 HGNC:5491 +HGNC:5493 IGHD2OR15-2A immunoglobulin heavy diversity 2/OR15-2A (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHD2/OR15-2A|IGHD2OR152A" immunoglobulin heavy diversity 2/OR15-2A Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-10 2015-07-24 28333 ENSG00000282599 OTTHUMG00000184594 uc059gos.1 X55577 2114977 IGHD2/OR15-2a +HGNC:5494 IGHD2OR15-2B immunoglobulin heavy diversity 2/OR15-2B (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHD2/OR15-2B|IGHD2OR152B" immunoglobulin heavy diversity 2/OR15-2B Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-10 2015-07-24 28332 ENSG00000282268 OTTHUMG00000184595 uc059gpt.1 X55578 2114977 IGHD2/OR15-2b +HGNC:5498 IGHD3-3 immunoglobulin heavy diversity 3-3 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD33|DXP4" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28501 ENSG00000211930 OTTHUMG00000152358 uc059gfe.1 X13972 NG_001019 3243276 611937 IGHD3-3 HGNC:5498 +HGNC:5499 IGHD3-9 immunoglobulin heavy diversity 3-9 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD39|DXP1" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-18 28500 ENSG00000211924 OTTHUMG00000152352 uc059gey.1 X13972 NG_001019 3243276 IGHD3-9 HGNC:5499 +HGNC:5495 IGHD3-10 immunoglobulin heavy diversity 3-10 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD310|DXP'1" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-18 28499 ENSG00000211923 OTTHUMG00000152354 uc059gex.1 X13972 NG_001019 3243276 IGHD3-10 HGNC:5495 +HGNC:5496 IGHD3-16 immunoglobulin heavy diversity 3-16 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD316 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28498 ENSG00000211917 OTTHUMG00000152439 uc059ger.1 X93614 NG_001019 3138112 IGHD3-16 HGNC:5496 +HGNC:5497 IGHD3-22 immunoglobulin heavy diversity 3-22 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD322 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28497 ENSG00000211911 OTTHUMG00000152434 uc059gej.1 X93616 NG_001019 3138112 IGHD3-22 HGNC:5497 +HGNC:5500 IGHD3OR15-3A immunoglobulin heavy diversity 3/OR15-3A (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHD3/OR15-3A|IGHD3OR153A" immunoglobulin heavy diversity 3/OR15-3A Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-10 2015-07-24 28331 ENSG00000282520 OTTHUMG00000184598 uc059gor.1 X55579 2114977 IGHD3/OR15-3a +HGNC:5501 IGHD3OR15-3B immunoglobulin heavy diversity 3/OR15-3B (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHD3/OR15-3B|IGHD3OR153B" immunoglobulin heavy diversity 3/OR15-3B Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-10 2015-07-24 28330 ENSG00000282089 OTTHUMG00000184596 uc059gps.1 X55580 2114977 IGHD3/OR15-3b +HGNC:5505 IGHD4-4 immunoglobulin heavy diversity 4-4 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD44|DA4" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28496 ENSG00000233655 OTTHUMG00000152355 uc059gfd.1 X13972 NG_001019 "3243276|3138112" IGHD4-4 HGNC:5505 +HGNC:5502 IGHD4-11 immunoglobulin heavy diversity 4-11 (non-functional) other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD411|DA1" immunoglobulin heavy diversity 4-11 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2008-09-12 2014-11-19 28495 ENSG00000232543 OTTHUMG00000152368 uc059gew.1 X13972 NG_001019 3243276 IGHD4-11 HGNC:5502 +HGNC:5503 IGHD4-17 immunoglobulin heavy diversity 4-17 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD417 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28494 ENSG00000227800 OTTHUMG00000152437 uc059gep.1 X97051 NG_001019 3138112 IGHD4-17 HGNC:5503 +HGNC:5504 IGHD4-23 immunoglobulin heavy diversity 4-23 (non-functional) other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD423 immunoglobulin heavy diversity 4-23 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2008-09-12 2014-11-19 28493 ENSG00000227196 OTTHUMG00000152438 uc059gei.1 X97051 NG_001019 3138112 IGHD4-23 HGNC:5504 +HGNC:5506 IGHD4OR15-4A immunoglobulin heavy diversity 4/OR15-4A (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHD4/OR15-4A|IGHD4OR154A" immunoglobulin heavy diversity 4/OR15-4A Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-10 2013-12-06 28329 ENSG00000271317 OTTHUMG00000184621 uc059goq.1 X55581 2114977 IGHD4/OR15-4a +HGNC:5507 IGHD4OR15-4B immunoglobulin heavy diversity 4/OR15-4B (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHD4/OR15-4B|IGHD4OR154B" immunoglobulin heavy diversity 4/OR15-4B Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-10 2013-12-06 28328 ENSG00000270451 OTTHUMG00000184611 uc059gpr.1 X55582 2114977 IGHD4/OR15-4b +HGNC:5511 IGHD5-5 immunoglobulin heavy diversity 5-5 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD55|DK4" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-18 28492 ENSG00000211928 OTTHUMG00000152360 uc059gfc.1 X13972 NG_001019 "3138112|3243276" IGHD5-5 HGNC:5511 +HGNC:5508 IGHD5-12 immunoglobulin heavy diversity 5-12 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD512|DK1" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28491 ENSG00000211921 OTTHUMG00000152367 uc059gev.1 X13972 NG_001019 3243276 IGHD5-12 HGNC:5508 +HGNC:5509 IGHD5-18 immunoglobulin heavy diversity 5-18 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD518 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28490 ENSG00000211915 OTTHUMG00000152433 uc059geo.1 X97051 NG_001019 3138112 IGHD5-18 HGNC:5509 +HGNC:5510 IGHD5-24 immunoglobulin heavy diversity 5-24 (non-functional) other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD524 immunoglobulin heavy diversity 5-24 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2008-09-12 2014-11-19 28489 ENSG00000211909 OTTHUMG00000152427 uc059geh.1 X97051 NG_001019 3138112 IGHD5-24 HGNC:5510 +HGNC:5512 IGHD5OR15-5A immunoglobulin heavy diversity 5/OR15-5A (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHD5/OR15-5A|IGHD5OR155A" immunoglobulin heavy diversity 5/OR15-5A Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-10 2013-12-06 28327 ENSG00000270961 OTTHUMG00000184622 uc059gop.1 X55583 2114977 IGHD5/OR15-5a +HGNC:5513 IGHD5OR15-5B immunoglobulin heavy diversity 5/OR15-5B (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHD5/OR15-5B|IGHD5OR155B" immunoglobulin heavy diversity 5/OR15-5B Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-10 2013-12-06 28326 ENSG00000270824 OTTHUMG00000184624 uc059gpq.1 X55584 NG_065957 2114977 IGHD5/OR15-5b HGNC:5513 +HGNC:5517 IGHD6-6 immunoglobulin heavy diversity 6-6 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD66|D(N4)" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28488 ENSG00000228131 OTTHUMG00000152353 uc059gfb.1 X13972 NG_001019 "3243276|3138112" IGHD6-6 HGNC:5517 +HGNC:5514 IGHD6-13 immunoglobulin heavy diversity 6-13 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD613|DN1" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28487 ENSG00000211920 OTTHUMG00000152370 uc059geu.1 X13972 NG_001019 3243276 IGHD6-13 HGNC:5514 +HGNC:5515 IGHD6-19 immunoglobulin heavy diversity 6-19 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD619 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28486 ENSG00000211914 OTTHUMG00000152431 uc059gen.1 X97051 NG_001019 3138112 IGHD6-19 HGNC:5515 +HGNC:5516 IGHD6-25 immunoglobulin heavy diversity 6-25 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHD625 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28485 ENSG00000225825 OTTHUMG00000152436 uc059geg.1 X97051 NG_001019 3138112 IGHD6-25 HGNC:5516 +HGNC:5518 IGHD7-27 immunoglobulin heavy diversity 7-27 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHD727|DHQ52" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28484 ENSG00000236597 OTTHUMG00000152435 uc059gee.1 J00256 NG_001019 "6795593|6101209" IGHD7-27 HGNC:5518 +HGNC:5522 IGHE immunoglobulin heavy constant epsilon other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2014-11-19 3497 ENSG00000211891 OTTHUMG00000152483 uc059gcp.1 J00222 NG_001019 P01854 MGI:2685746 RGD:2880 147180 IGHE objectId:2741 HGNC:5522 +HGNC:5523 IGHEP1 immunoglobulin heavy constant epsilon P1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy constant epsilon P1|immunoglobulin heavy constant epsilon P1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2011-04-15 2012-10-02 3498 ENSG00000253692 OTTHUMG00000029957 J00223 NG_001019 6811139 PGOHUM00000247910 IGHEP1 HGNC:5523 +HGNC:5524 IGHEP2 immunoglobulin heavy constant epsilon P2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 9p24.1 09p24.1 "immunoglobulin heavy constant epsilon P2|immunoglobulin heavy constant epsilon P2 pseudogene" Immunoglobulin heavy (IGH) orphons 350 1986-01-01 2011-04-15 2012-06-06 3499 ENSG00000254017 OTTHUMG00000019482 K01241 NG_003254 6964396 PGOHUM00000236371 IGHEP2 HGNC:5524 +HGNC:5525 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2014-11-19 3500 ENSG00000211896 OTTHUMG00000152495 uc059gda.1 J00228 NG_001019 P01857 "MGI:96443|MGI:96445|MGI:96446|MGI:2144790" RGD:1359539 147100 122589 IGHG1 HGNC:5525 +HGNC:5526 IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2015-10-01 3501 ENSG00000211893 OTTHUMG00000152482 uc059gct.1 J00230 NG_001019 P01859 "MGI:96443|MGI:96445|MGI:96446" IGHG2base: Mutation registry for IgG2 deficiency|http://structure.bmc.lu.se/idbase/IGHG2base/ 147110 221192 IGHG2 HGNC:5526 HGNC:5526 +HGNC:5527 IGHG3 immunoglobulin heavy constant gamma 3 (G3m marker) other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2014-11-19 3502 ENSG00000211897 OTTHUMG00000152539 uc059gdk.1 M12958 NG_001019 P01860 6808505 "MGI:96443|MGI:96445|MGI:96446" 147120 IGHG3 HGNC:5527 +HGNC:5528 IGHG4 immunoglobulin heavy constant gamma 4 (G4m marker) other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2014-11-19 3503 ENSG00000211892 OTTHUMG00000152481 uc059gcs.1 K01316 NG_001019 P01861 "MGI:96443|MGI:96445|MGI:96446" 147130 IGHG4 HGNC:5528 +HGNC:5529 IGHGP immunoglobulin heavy constant gamma P (non-functional) other immunoglobulin gene Approved 14q32.33 14q32.33 IGHGP1 immunoglobulin heavy constant gamma P Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2008-09-12 2014-11-19 3505 ENSG00000253755 OTTHUMG00000152493 X06766 NG_001019 IGHGP HGNC:5529 +HGNC:5532 IGHJ1 immunoglobulin heavy joining 1 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28483 ENSG00000211905 OTTHUMG00000152460 uc059ged.1 J00256 NG_001019 A0A0C4DH62 IGHJ1 HGNC:5532 +HGNC:5533 IGHJ1P immunoglobulin heavy joining 1P (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 Jpsi1 "immunoglobulin heavy joining 1P|immunoglobulin heavy joining 1P pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-10 28482 ENSG00000227335 OTTHUMG00000152458 J00256 NG_001019 6101209 IGHJ1P HGNC:5533 +HGNC:5534 IGHJ2 immunoglobulin heavy joining 2 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28481 ENSG00000211904 OTTHUMG00000152457 uc059gec.1 J00256 NG_001019 IGHJ2 HGNC:5534 +HGNC:5535 IGHJ2P immunoglobulin heavy joining 2P (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 Jpsi2 "immunoglobulin heavy joining 2P|immunoglobulin heavy joining 2P pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28480 ENSG00000237547 OTTHUMG00000152456 J00256 NG_001019 6101209 IGHJ2P HGNC:5535 +HGNC:5536 IGHJ3 immunoglobulin heavy joining 3 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28479 ENSG00000242887 OTTHUMG00000152453 uc059geb.1 J00256 NG_001019 IGHJ3 HGNC:5536 +HGNC:5537 IGHJ3P immunoglobulin heavy joining 3P (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 Jpsi3 "immunoglobulin heavy joining 3P|immunoglobulin heavy joining 3P pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28478 ENSG00000237111 OTTHUMG00000152459 J00256 NG_001019 6101209 IGHJ3P HGNC:5537 +HGNC:5538 IGHJ4 immunoglobulin heavy joining 4 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-18 28477 ENSG00000240041 OTTHUMG00000152454 uc059gea.1 J00256 NG_001019 IGHJ4 HGNC:5538 +HGNC:5539 IGHJ5 immunoglobulin heavy joining 5 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-18 28476 ENSG00000242472 OTTHUMG00000152461 uc059gdz.1 J00256 NG_001019 IGHJ5 HGNC:5539 +HGNC:5540 IGHJ6 immunoglobulin heavy joining 6 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-11-19 28475 ENSG00000211900 OTTHUMG00000152455 uc059gdy.1 J00256 NG_001019 IGHJ6 HGNC:5540 +HGNC:5541 IGHM immunoglobulin heavy constant mu other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2001-06-22 2021-05-26 3507 ENSG00000211899 OTTHUMG00000152452 uc059gdp.1 X14940 NG_001019 P01871 2115996 MGI:96448 IGHMbase: Mutation registry for µ heavy-chain deficiency|http://structure.bmc.lu.se/idbase/IGHMbase/ 147020 122591 IGHM HGNC:5541 HGNC:5541 +HGNC:5542 IGHMBP2 immunoglobulin mu DNA binding protein 2 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "ZFAND7|SMUBP2|CATF1|SMARD1|HCSA|HMN6|CMT2S" "cardiac transcription factor 1|zinc finger, AN1-type domain 7" immunoglobulin mu binding protein 2 "Zinc fingers AN1-type|UPF1 like RNA helicases" "63|1169" 1994-12-15 2018-06-07 2021-05-26 3508 ENSG00000132740 OTTHUMG00000167894 uc001ook.2 L14754 NM_002180 CCDS8187 P38935 "30218034|8349627" MGI:99954 RGD:68325 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_250|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_250.xml" 600502 122593 HGNC:5542 "ENST00000255078.8|NM_002180.3" HGNC:5542 +HGNC:5550 IGHV1-2 immunoglobulin heavy variable 1-2 other immunoglobulin gene Approved 14q32.33 14q32.33 V35 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28474 ENSG00000211934 OTTHUMG00000152320 uc059gfn.1 X07448 NG_001019 P23083 IGHV1-2 HGNC:5550 +HGNC:5552 IGHV1-3 immunoglobulin heavy variable 1-3 other immunoglobulin gene Approved 14q32.33 14q32.33 VI-3B Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28473 ENSG00000211935 OTTHUMG00000152323 uc059gfo.1 X62109 NG_001019 A0A0C4DH29 "MGI:3576502|MGI:4439633|MGI:4439659|MGI:4439824" IGHV1-3 HGNC:5552 +HGNC:5559 IGHV1-8 immunoglobulin heavy variable 1-8 other immunoglobulin gene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2015-04-01 28472 M99637 NG_001019 P0DP01 "MGI:3576502|MGI:4439633|MGI:4439659|MGI:4439824" IGHV1-8 +HGNC:5546 IGHV1-12 immunoglobulin heavy variable 1-12 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 1-12|immunoglobulin heavy variable 1-12 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28471 ENSG00000254174 OTTHUMG00000152281 X92210 NG_001019 PGOHUM00000247924 IGHV1-12 HGNC:5546 +HGNC:5547 IGHV1-14 immunoglobulin heavy variable 1-14 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 1-14|immunoglobulin heavy variable 1-14 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28470 ENSG00000253709 OTTHUMG00000152290 M99639 NG_001019 PGOHUM00000247925 IGHV1-14 HGNC:5547 +HGNC:5548 IGHV1-17 immunoglobulin heavy variable 1-17 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 1-17|immunoglobulin heavy variable 1-17 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28469 ENSG00000254046 OTTHUMG00000152288 M99640 NG_001019 PGOHUM00000250117 IGHV1-17 HGNC:5548 +HGNC:5549 IGHV1-18 immunoglobulin heavy variable 1-18 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28468 ENSG00000211945 OTTHUMG00000152276 uc059gfw.1 M99641 NG_001019 A0A0C4DH31 "MGI:3576502|MGI:4439633|MGI:4439634|MGI:4439659|MGI:4439824" IGHV1-18 HGNC:5549 +HGNC:5551 IGHV1-24 immunoglobulin heavy variable 1-24 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28467 ENSG00000211950 OTTHUMG00000152095 uc059ggb.1 M99642 NG_001019 A0A0C4DH33 "MGI:3576502|MGI:4439633|MGI:4439659|MGI:4439824" IGHV1-24 HGNC:5551 +HGNC:5560 IGHV1-38-4 immunoglobulin heavy variable 1-38-4 (non-functional) other immunoglobulin gene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly IGHV1-c IGHV1-C "immunoglobulin heavy variable 1-C (provisional)|immunoglobulin heavy variable 1-C (provisional, non-functional)" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-04-09 2014-04-09 2016-11-10 28460 KF698736 P0DTW3 IGHV1-38-4 +HGNC:5553 IGHV1-45 immunoglobulin heavy variable 1-45 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28466 ENSG00000211961 OTTHUMG00000152075 uc059ggp.1 X92209 NG_001019 A0A0A0MS14 "MGI:3576502|MGI:4439633|MGI:4439634|MGI:4439659|MGI:4439824" IGHV1-45 HGNC:5553 +HGNC:5554 IGHV1-46 immunoglobulin heavy variable 1-46 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28465 ENSG00000211962 OTTHUMG00000151963 uc059ggq.1 X92343 NG_001019 P01743 IGHV1-46 HGNC:5554 +HGNC:5555 IGHV1-58 immunoglobulin heavy variable 1-58 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28464 ENSG00000211968 OTTHUMG00000151953 uc059ggw.1 M29809 NG_001019 A0A0C4DH39 "MGI:3576502|MGI:4439633|MGI:4439634|MGI:4439659|MGI:4439824" IGHV1-58 HGNC:5555 +HGNC:5556 IGHV1-67 immunoglobulin heavy variable 1-67 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 1-67|immunoglobulin heavy variable 1-67 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-10-16 28463 ENSG00000253274 OTTHUMG00000151868 X92212 NG_001019 PGOHUM00000247979 IGHV1-67 HGNC:5556 +HGNC:5557 IGHV1-68 immunoglobulin heavy variable 1-68 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 1-68|immunoglobulin heavy variable 1-68 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28462 ENSG00000253703 OTTHUMG00000151876 AB019437 NG_001019 PGOHUM00000247983 IGHV1-68 HGNC:5557 +HGNC:5558 IGHV1-69 immunoglobulin heavy variable 1-69 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHV1-E Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-10 28461 ENSG00000211973 OTTHUMG00000151862 uc059ghd.1 L22582 NG_001019 P01742 8469934 "MGI:3576502|MGI:4439633|MGI:4439659|MGI:4439824" IGHV1-69 HGNC:5558 +HGNC:5562 IGHV1-69-2 immunoglobulin heavy variable 1-69-2 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHV1-f IGHV1-F immunoglobulin heavy variable 1-F (provisional) Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-04-09 2014-04-09 2017-10-26 28458 ENSG00000281990 OTTHUMG00000191146 KF698734 NG_001019 A0A0G2JMI3 23541343 "MGI:3576502|MGI:4439633|MGI:4439634|MGI:4439659|MGI:4439824" IGHV1-69-2 HGNC:5562 +HGNC:49601 IGHV1-69D immunoglobulin heavy variable 1-69D other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2014-01-22 2017-10-26 102723169 ENSG00000280411 OTTHUMG00000189341 KC713934 NG_001019 A0A0B4J2H0 23541343 "MGI:3576502|MGI:4439633|MGI:4439659|MGI:4439824" IGHV1-69D HGNC:49601 +HGNC:5563 IGHV1OR15-1 immunoglobulin heavy variable 1/OR15-1 (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 IGHV1/OR15-1 "immunoglobulin heavy variable 1/OR15-1|immunoglobulin heavy variable 1/OR15-1 pseudogene|immunoglobulin heavy variable 1/OR15-1 (pseudogene)" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2012-06-12 2013-10-18 388077 ENSG00000270505 OTTHUMG00000184670 uc059grb.1 Z29631 NR_135694 "MGI:3576502|MGI:4439633|MGI:4439634|MGI:4439659|MGI:4439824" IGHV1/OR15-1 HGNC:5563 +HGNC:5564 IGHV1OR15-2 immunoglobulin heavy variable 1/OR15-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 15q11.1 15q11.1 IGHV1/OR15-2 "immunoglobulin heavy variable 1/OR15-2|immunoglobulin heavy variable 1/OR15-2 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2012-11-19 100287128 ENSG00000259337 OTTHUMG00000176334 L25543 NG_065966 PGOHUM00000246613 IGHV1/OR15-2 HGNC:5564 +HGNC:5565 IGHV1OR15-3 immunoglobulin heavy variable 1/OR15-3 (pseudogene) pseudogene immunoglobulin pseudogene Approved 15q11.2 15q11.2 IGHV1/OR15-3 "immunoglobulin heavy variable 1/OR15-3|immunoglobulin heavy variable 1/OR15-3 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2013-10-18 646370 ENSG00000271288 OTTHUMG00000184673 Z29595 NR_135666 8801417 PGOHUM00000251161 IGHV1/OR15-3 HGNC:5565 +HGNC:5566 IGHV1OR15-4 immunoglobulin heavy variable 1/OR15-4 (pseudogene) pseudogene immunoglobulin pseudogene Approved 15q11.2 15q11.2 IGHV1/OR15-4 "immunoglobulin heavy variable 1/OR15-4|immunoglobulin heavy variable 1/OR15-4 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2013-05-22 646379 ENSG00000270356 OTTHUMG00000176336 Z29596 NG_065963 PGOHUM00000251163 IGHV1/OR15-4 HGNC:5566 +HGNC:5567 IGHV1OR15-5 immunoglobulin heavy variable 1/OR15-5 (non-functional) other immunoglobulin gene Approved 15q11.2 not on reference assembly 15q11.2 not on reference assembly IGHV1/OR15-5 "immunoglobulin heavy variable 1/OR15-5|immunoglobulin heavy variable 1/OR15-5 pseudogene|immunoglobulin heavy variable 1/OR15-5 (pseudogene)" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2012-06-12 2015-04-01 100384884 Z29633 NG_016978 IGHV1/OR15-5 +HGNC:5568 IGHV1OR15-6 immunoglobulin heavy variable 1/OR15-6 (pseudogene) pseudogene immunoglobulin pseudogene Approved 15q11.2 15q11.2 IGHV1/OR15-6 "immunoglobulin heavy variable 1/OR15-6|immunoglobulin heavy variable 1/OR15-6 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2013-12-06 28320 ENSG00000270685 OTTHUMG00000184707 Z29634 NG_065956 IGHV1/OR15-6 HGNC:5568 +HGNC:5569 IGHV1OR15-9 immunoglobulin heavy variable 1/OR15-9 (non-functional) other immunoglobulin gene Approved 15q11.1 15q11.1 "IGHV1/OR15-9|IGHV1OR159" VSIG7 "immunoglobulin heavy variable 1/OR15-9|V-set and immunoglobulin domain containing 7" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-08-22 2020-04-20 390531 ENSG00000188403 OTTHUMG00000171652 uc059gon.1 L25542 NG_032069 7959766 IGHV1/OR15-9 HGNC:5569 +HGNC:5570 IGHV1OR16-1 immunoglobulin heavy variable 1/OR16-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 16p11.2 16p11.2 IGHV1/OR16-1 "immunoglobulin heavy variable 1/OR16-1|immunoglobulin heavy variable 1/OR16-1 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2013-12-06 28315 ENSG00000261704 OTTHUMG00000176645 Z29599 NG_027716 PGOHUM00000249069 IGHV1/OR16-1 HGNC:5570 +HGNC:5571 IGHV1OR16-2 immunoglobulin heavy variable 1/OR16-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 16p11.2 16p11.2 IGHV1/OR16-2 "immunoglobulin heavy variable 1/OR16-2|immunoglobulin heavy variable 1/OR16-2 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2013-12-06 28314 ENSG00000259852 OTTHUMG00000176445 Z29600 IGHV1/OR16-2 +HGNC:5572 IGHV1OR16-3 immunoglobulin heavy variable 1/OR16-3 (pseudogene) pseudogene immunoglobulin pseudogene Approved 16p11.2 16p11.2 IGHV1/OR16-3 "immunoglobulin heavy variable 1/OR16-3|immunoglobulin heavy variable 1/OR16-3 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2013-12-06 28313 ENSG00000260048 OTTHUMG00000176557 Z29639 IGHV1/OR16-3 +HGNC:5573 IGHV1OR16-4 immunoglobulin heavy variable 1/OR16-4 (pseudogene) pseudogene immunoglobulin pseudogene Approved 16p11.2 16p11.2 IGHV1/OR16-4 "immunoglobulin heavy variable 1/OR16-4|immunoglobulin heavy variable 1/OR16-4 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2013-12-06 28312 ENSG00000259997 OTTHUMG00000176448 Z17397 PGOHUM00000259125 IGHV1/OR16-4 +HGNC:38040 IGHV1OR21-1 immunoglobulin heavy variable 1/OR21-1 (non-functional) other immunoglobulin gene Approved 21p11.2 21p11.2 IGHV1/OR21-1 immunoglobulin heavy variable 1/OR21-1 pseudogene Immunoglobulin heavy (IGH) orphons 350 2010-03-25 2010-11-09 2015-02-02 390530 ENSG00000277282 OTTHUMG00000188295 uc061zaq.1 NG_011680 RGD:2321747 IGHV1/OR21-1 HGNC:38040 +HGNC:5576 IGHV2-5 immunoglobulin heavy variable 2-5 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28457 ENSG00000211937 OTTHUMG00000152287 uc059gfq.1 X62111 NG_001019 P01817 IGHV2-5 HGNC:5576 +HGNC:5574 IGHV2-10 immunoglobulin heavy variable 2-10 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly "immunoglobulin heavy variable 2-10|immunoglobulin heavy variable 2-10 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2015-04-01 28456 M99647 NG_001019 PGOHUM00000250116 IGHV2-10 +HGNC:5575 IGHV2-26 immunoglobulin heavy variable 2-26 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28455 ENSG00000211951 OTTHUMG00000152100 uc059ggd.1 M99648 NG_001019 A0A0B4J1V2 IGHV2-26 HGNC:5575 +HGNC:5577 IGHV2-70 immunoglobulin heavy variable 2-70 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2015-01-20 28454 ENSG00000274576 OTTHUMG00000189342 uc059ghe.1 L21969 NG_001019 P01814 RGD:2323067 IGHV2-70 HGNC:5577 +HGNC:49602 IGHV2-70D immunoglobulin heavy variable 2-70D other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2014-01-22 2017-10-26 102723168 ENSG00000211974 OTTHUMG00000151870 KC713935 NG_001019 A0A0C4DH43 23541343 IGHV2-70D HGNC:49602 +HGNC:5579 IGHV2OR16-5 immunoglobulin heavy variable 2/OR16-5 (non-functional) other immunoglobulin gene Approved 16p11.2 16p11.2 IGHV2/OR16-5 immunoglobulin heavy variable 2/OR16-5 Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-08-22 2014-11-19 100129631 ENSG00000259303 OTTHUMG00000152881 uc059tqt.1 L25544 NG_065965 IGHV2/OR16-5 HGNC:5579 +HGNC:5613 IGHV3-6 immunoglobulin heavy variable 3-6 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-6|immunoglobulin heavy variable 3-6 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28453 ENSG00000253763 OTTHUMG00000152283 M99650 NG_001019 PGOHUM00000258749 IGHV3-6 HGNC:5613 +HGNC:5620 IGHV3-7 immunoglobulin heavy variable 3-7 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28452 ENSG00000211938 OTTHUMG00000152271 uc059gfr.1 M99649 NG_001019 P01780 "MGI:4439516|MGI:4439533" IGHV3-7 HGNC:5620 +HGNC:5628 IGHV3-9 immunoglobulin heavy variable 3-9 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2015-02-02 28451 M99651 NG_001019 P01782 MGI:4439516 IGHV3-9 +HGNC:5580 IGHV3-11 immunoglobulin heavy variable 3-11 other immunoglobulin gene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-11|immunoglobulin heavy variable 3-11 (gene/pseudogene)" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2020-05-01 2020-05-01 28450 ENSG00000211941 OTTHUMG00000152277 uc059gfs.1 M99652 NG_001019 P01762 "MGI:4439516|MGI:4439533" IGHV3-11 HGNC:5580 +HGNC:5581 IGHV3-13 immunoglobulin heavy variable 3-13 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28449 ENSG00000211942 OTTHUMG00000152295 uc059gft.1 X92217 NG_001019 P01766 "MGI:4439516|MGI:4439533" IGHV3-13 HGNC:5581 +HGNC:5582 IGHV3-15 immunoglobulin heavy variable 3-15 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-10 28448 ENSG00000211943 OTTHUMG00000152282 uc059gfu.1 X92216 NG_001019 A0A0B4J1V0 MGI:4439622 IGHV3-15 HGNC:5582 +HGNC:5583 IGHV3-16 immunoglobulin heavy variable 3-16 (non-functional) other immunoglobulin gene Approved 14q32.33 14q32.33 immunoglobulin heavy variable 3-16 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2008-08-22 2012-02-08 28447 ENSG00000211944 OTTHUMG00000152273 uc059gfv.1 M99655 NG_001019 A0A0C4DH30 IGHV3-16 HGNC:5583 +HGNC:5584 IGHV3-19 immunoglobulin heavy variable 3-19 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-19|immunoglobulin heavy variable 3-19 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28446 ENSG00000253883 OTTHUMG00000152280 M99656 NG_001019 PGOHUM00000247930 IGHV3-19 HGNC:5584 +HGNC:5585 IGHV3-20 immunoglobulin heavy variable 3-20 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28445 ENSG00000211946 OTTHUMG00000152285 uc059gfy.1 M99657 NG_001019 A0A0C4DH32 MGI:4439516 IGHV3-20 HGNC:5585 +HGNC:5586 IGHV3-21 immunoglobulin heavy variable 3-21 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28444 ENSG00000211947 OTTHUMG00000152279 uc059gfz.1 Z14073 NG_001019 A0A0B4J1V1 "MGI:4439516|MGI:4439533" 269544 IGHV3-21 HGNC:5586 +HGNC:5587 IGHV3-22 immunoglobulin heavy variable 3-22 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-22|immunoglobulin heavy variable 3-22 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28443 ENSG00000253957 OTTHUMG00000152293 M99659 NG_001019 PGOHUM00000247931 IGHV3-22 HGNC:5587 +HGNC:5588 IGHV3-23 immunoglobulin heavy variable 3-23 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28442 ENSG00000211949 OTTHUMG00000152091 uc059gga.1 M99660 NG_001019 P01764 MGI:4439516 611939 IGHV3-23 HGNC:5588 +HGNC:5589 IGHV3-25 immunoglobulin heavy variable 3-25 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-25|immunoglobulin heavy variable 3-25 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-10-16 28441 ENSG00000253441 OTTHUMG00000152073 M99661 NG_001019 PGOHUM00000262209 IGHV3-25 HGNC:5589 +HGNC:5590 IGHV3-29 immunoglobulin heavy variable 3-29 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-29|immunoglobulin heavy variable 3-29 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2015-02-02 28440 ENSG00000270474 OTTHUMG00000188328 M99662 NG_001019 PGOHUM00000292489 IGHV3-29 HGNC:5590 +HGNC:5591 IGHV3-30 immunoglobulin heavy variable 3-30 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2015-01-20 28439 ENSG00000270550 OTTHUMG00000188332 uc059ggf.1 M83134 NG_001019 P01768 MGI:4439516 IGHV3-30 HGNC:5591 +HGNC:5592 IGHV3-30-2 immunoglobulin heavy variable 3-30-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-30-2|immunoglobulin heavy variable 3-30-2 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28438 ENSG00000253587 OTTHUMG00000152082 AB019439 NG_001019 PGOHUM00000247941 IGHV3-30-2 HGNC:5592 +HGNC:5593 IGHV3-30-3 immunoglobulin heavy variable 3-30-3 other immunoglobulin gene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2016-11-10 57290 X92283 P0DP02 MGI:4439516 IGHV3-30-3 +HGNC:5594 IGHV3-30-5 immunoglobulin heavy variable 3-30-5 other immunoglobulin gene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2015-04-01 89770 M83134 P0DP03 MGI:4439516 IGHV3-30-5 +HGNC:5595 IGHV3-32 immunoglobulin heavy variable 3-32 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-32|immunoglobulin heavy variable 3-32 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28435 ENSG00000254289 OTTHUMG00000152063 M99664 NG_001019 PGOHUM00000247943 IGHV3-32 HGNC:5595 +HGNC:5596 IGHV3-33 immunoglobulin heavy variable 3-33 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-10 28434 ENSG00000211955 OTTHUMG00000152077 uc059ggh.1 L06618 NG_001019 P01772 MGI:4439516 IGHV3-33 HGNC:5596 +HGNC:5597 IGHV3-33-2 immunoglobulin heavy variable 3-33-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-33-2|immunoglobulin heavy variable 3-33-2 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28433 ENSG00000253440 OTTHUMG00000152096 AB019439 NG_001019 PGOHUM00000247946 IGHV3-33-2 HGNC:5597 +HGNC:5598 IGHV3-35 immunoglobulin heavy variable 3-35 (non-functional) other immunoglobulin gene Approved 14q32.33 14q32.33 immunoglobulin heavy variable 3-35 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2008-08-22 2012-02-08 28432 ENSG00000211957 OTTHUMG00000152079 uc059ggj.1 M99666 NG_001019 A0A0C4DH35 IGHV3-35 HGNC:5598 +HGNC:5599 IGHV3-36 immunoglobulin heavy variable 3-36 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-36|immunoglobulin heavy variable 3-36 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28431 ENSG00000253240 OTTHUMG00000152068 M99667 NG_001019 PGOHUM00000247949 IGHV3-36 HGNC:5599 +HGNC:5600 IGHV3-37 immunoglobulin heavy variable 3-37 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-37|immunoglobulin heavy variable 3-37 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28430 ENSG00000253359 OTTHUMG00000152083 M99668 NG_001019 PGOHUM00000247950 IGHV3-37 HGNC:5600 +HGNC:5601 IGHV3-38 immunoglobulin heavy variable 3-38 (non-functional) other immunoglobulin gene Approved 14q32.33 14q32.33 immunoglobulin heavy variable 3-38 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2008-08-22 2012-02-08 28429 ENSG00000211958 OTTHUMG00000152093 uc059ggk.1 M99669 NG_001019 A0A0C4DH36 IGHV3-38 HGNC:5601 +HGNC:5629 IGHV3-38-3 immunoglobulin heavy variable 3-38-3 (non-functional) other immunoglobulin gene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly IGHV3-d IGHV3-D immunoglobulin heavy variable 3-D (provisional) Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-04-09 2014-04-09 2016-11-10 28404 KF698732 P0DTE1 23541343 IGHV3-38-3 +HGNC:5602 IGHV3-41 immunoglobulin heavy variable 3-41 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-41|immunoglobulin heavy variable 3-41 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2015-02-02 28428 ENSG00000278473 OTTHUMG00000152089 M99670 NG_001019 PGOHUM00000292499 IGHV3-41 HGNC:5602 +HGNC:5603 IGHV3-42 immunoglobulin heavy variable 3-42 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-42|immunoglobulin heavy variable 3-42 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28427 ENSG00000254228 OTTHUMG00000152081 M99671 NG_001019 PGOHUM00000247956 IGHV3-42 HGNC:5603 +HGNC:5604 IGHV3-43 immunoglobulin heavy variable 3-43 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28426 ENSG00000232216 OTTHUMG00000152094 uc059ggm.1 M99672 NG_001019 A0A0B4J1X8 MGI:4439516 IGHV3-43 HGNC:5604 +HGNC:50322 IGHV3-43D immunoglobulin heavy variable 3-43D other immunoglobulin gene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly Immunoglobulin heavy locus at 14q32.33 349 2014-04-09 2016-11-10 103106901 KC713950 P0DP04 23541343 IGHV3-43D +HGNC:5605 IGHV3-47 immunoglobulin heavy variable 3-47 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-47|immunoglobulin heavy variable 3-47 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2016-10-05 28425 ENSG00000229092 OTTHUMG00000151968 Z18900 NG_001019 PGOHUM00000262210 IGHV3-47 HGNC:5605 +HGNC:5606 IGHV3-48 immunoglobulin heavy variable 3-48 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28424 ENSG00000211964 OTTHUMG00000151959 uc059ggr.1 M99675 NG_001019 P01763 "MGI:4439516|MGI:4439533" IGHV3-48 HGNC:5606 +HGNC:5607 IGHV3-49 immunoglobulin heavy variable 3-49 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28423 ENSG00000211965 OTTHUMG00000151967 uc059ggt.1 M99676 NG_001019 A0A0A0MS15 MGI:4439622 IGHV3-49 HGNC:5607 +HGNC:5608 IGHV3-50 immunoglobulin heavy variable 3-50 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-50|immunoglobulin heavy variable 3-50 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28422 ENSG00000253241 OTTHUMG00000151964 M99677 NG_001019 PGOHUM00000247959 IGHV3-50 HGNC:5608 +HGNC:5609 IGHV3-52 immunoglobulin heavy variable 3-52 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-52|immunoglobulin heavy variable 3-52 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28421 ENSG00000253545 OTTHUMG00000151958 M99678 NG_001019 PGOHUM00000247963 IGHV3-52 HGNC:5609 +HGNC:5610 IGHV3-53 immunoglobulin heavy variable 3-53 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28420 ENSG00000211967 OTTHUMG00000151966 uc059ggv.1 M99679 NG_001019 P01767 MGI:4439516 IGHV3-53 HGNC:5610 +HGNC:5611 IGHV3-54 immunoglobulin heavy variable 3-54 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-54|immunoglobulin heavy variable 3-54 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2015-02-02 28419 ENSG00000275475 OTTHUMG00000151962 M99680 NG_001019 PGOHUM00000292508 IGHV3-54 HGNC:5611 +HGNC:5612 IGHV3-57 immunoglobulin heavy variable 3-57 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-57|immunoglobulin heavy variable 3-57 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28418 ENSG00000253759 OTTHUMG00000151961 M29815 NG_001019 IGHV3-57 HGNC:5612 +HGNC:5614 IGHV3-60 immunoglobulin heavy variable 3-60 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-60|immunoglobulin heavy variable 3-60 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28417 ENSG00000253742 OTTHUMG00000151956 M29813 NG_001019 IGHV3-60 HGNC:5614 +HGNC:5615 IGHV3-62 immunoglobulin heavy variable 3-62 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-62|immunoglobulin heavy variable 3-62 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28416 ENSG00000253132 OTTHUMG00000151950 M29814 NG_001019 IGHV3-62 HGNC:5615 +HGNC:5616 IGHV3-63 immunoglobulin heavy variable 3-63 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-63|immunoglobulin heavy variable 3-63 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28415 ENSG00000253936 OTTHUMG00000151977 M99681 NG_001019 PGOHUM00000247975 IGHV3-63 HGNC:5616 +HGNC:5617 IGHV3-64 immunoglobulin heavy variable 3-64 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28414 ENSG00000223648 OTTHUMG00000151971 uc059ghb.1 M99682 NG_001019 A0A075B6Q5 MGI:4439516 IGHV3-64 HGNC:5617 +HGNC:49603 IGHV3-64D immunoglobulin heavy variable 3-64D other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2014-01-22 2017-10-26 102723170 ENSG00000282639 OTTHUMG00000191142 KC713941 NG_001019 A0A0J9YX35 23541343 MGI:4439516 IGHV3-64D HGNC:49603 +HGNC:5618 IGHV3-65 immunoglobulin heavy variable 3-65 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-65|immunoglobulin heavy variable 3-65 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28413 ENSG00000253209 OTTHUMG00000151972 Z27503 NG_001019 PGOHUM00000247977 IGHV3-65 HGNC:5618 +HGNC:5619 IGHV3-66 immunoglobulin heavy variable 3-66 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28412 ENSG00000211972 OTTHUMG00000151880 uc059ghc.1 X92218 NG_001019 A0A0C4DH42 MGI:4439516 IGHV3-66 HGNC:5619 +HGNC:5631 IGHV3-69-1 immunoglobulin heavy variable 3-69-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV3-h IGHV3-H "immunoglobulin heavy variable 3-H (provisional)|immunoglobulin heavy variable 3-H pseudogene (provisional)|immunoglobulin heavy variable 3-H (pseudogene)" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-04-09 2014-04-09 2017-10-26 28402 ENSG00000282600 OTTHUMG00000191145 AJ879484 NG_001019 16133446 PGOHUM00000292520 IGHV3-69-1 HGNC:5631 +HGNC:5621 IGHV3-71 immunoglobulin heavy variable 3-71 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV3-g IGHV3-G "immunoglobulin heavy variable 3-71|immunoglobulin heavy variable 3-G pseudogene (provisional)|immunoglobulin heavy variable 3-G (provisional)|immunoglobulin heavy variable 3-71 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2014-11-19 28411 ENSG00000254056 OTTHUMG00000151881 AB019437 NG_001019 PGOHUM00000247986 IGHV3-71 HGNC:5621 +HGNC:5622 IGHV3-72 immunoglobulin heavy variable 3-72 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28410 ENSG00000225698 OTTHUMG00000151865 uc059ghi.1 X92206 NG_001019 A0A0B4J1Y9 MGI:4439622 IGHV3-72 HGNC:5622 +HGNC:5623 IGHV3-73 immunoglobulin heavy variable 3-73 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28409 ENSG00000211976 OTTHUMG00000151867 uc059ghj.1 Z27508 NG_001019 A0A0B4J1V6 MGI:4439622 IGHV3-73 HGNC:5623 +HGNC:5624 IGHV3-74 immunoglobulin heavy variable 3-74 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28408 ENSG00000224650 OTTHUMG00000151860 uc059ghk.1 Z12353 NG_001019 A0A0B4J1X5 MGI:4439516 IGHV3-74 HGNC:5624 +HGNC:5625 IGHV3-75 immunoglobulin heavy variable 3-75 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-75|immunoglobulin heavy variable 3-75 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-10 28407 ENSG00000254176 OTTHUMG00000151866 Z27510 NG_001019 IGHV3-75 HGNC:5625 +HGNC:5626 IGHV3-76 immunoglobulin heavy variable 3-76 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-76|immunoglobulin heavy variable 3-76 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28406 ENSG00000253247 OTTHUMG00000151878 Z12341 NG_001019 IGHV3-76 HGNC:5626 +HGNC:5627 IGHV3-79 immunoglobulin heavy variable 3-79 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 3-79|immunoglobulin heavy variable 3-79 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2015-02-02 28405 ENSG00000275747 OTTHUMG00000151871 AB019437 NG_001019 PGOHUM00000292531 IGHV3-79 HGNC:5627 +HGNC:5633 IGHV3OR15-7 immunoglobulin heavy variable 3/OR15-7 (pseudogene) pseudogene immunoglobulin pseudogene Approved 15q11.2 15q11.2 IGHV3/OR15-7 "immunoglobulin heavy variable 3/OR15-7|immunoglobulin heavy variable 3/OR15-7 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2012-06-12 28318 ENSG00000259490 OTTHUMG00000171835 uc059goo.1 Z29597 IGHV3/OR15-7 +HGNC:5641 IGHV3OR16-6 immunoglobulin heavy variable 3/OR16-6 (pseudogene) pseudogene immunoglobulin pseudogene Approved 16p11.2 16p11.2 IGHV3/OR16-6 "immunoglobulin heavy variable 3/OR16-6|immunoglobulin heavy variable 3/OR16-6 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2013-12-06 647187 ENSG00000270864 OTTHUMG00000176443 L25545 NG_065964 PGOHUM00000249080 IGHV3/OR16-6 HGNC:5641 +HGNC:5642 IGHV3OR16-7 immunoglobulin heavy variable 3/OR16-7 (pseudogene) pseudogene immunoglobulin pseudogene Approved 16p11.2 16p11.2 IGHV3/OR16-7 "immunoglobulin heavy variable 3/OR16-7|immunoglobulin heavy variable 3/OR16-7 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2013-12-06 28309 ENSG00000271620 OTTHUMG00000184739 Z29604 NG_033846 PGOHUM00000262294 IGHV3/OR16-7 HGNC:5642 +HGNC:5643 IGHV3OR16-8 immunoglobulin heavy variable 3/OR16-8 (non-functional) other immunoglobulin gene Approved 16p11.2 16p11.2 IGHV3/OR16-8 immunoglobulin heavy variable 3/OR16-8 Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-11 2013-05-22 388255 ENSG00000271130 OTTHUMG00000176449 uc021thd.3 Z29605 PGOHUM00000262331 IGHV3/OR16-8 HGNC:5643 +HGNC:5644 IGHV3OR16-9 immunoglobulin heavy variable 3/OR16-9 (non-functional) other immunoglobulin gene Approved 16p11.2 16p11.2 IGHV3/OR16-9 immunoglobulin heavy variable 3/OR16-9 Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-11 2013-12-06 28307 ENSG00000270472 OTTHUMG00000184753 uc031qvz.3 Z29606 NG_065955 RGD:2323052 IGHV3/OR16-9 HGNC:5644 +HGNC:5634 IGHV3OR16-10 immunoglobulin heavy variable 3/OR16-10 (non-functional) other immunoglobulin gene Approved 16p11.2 16p11.2 IGHV3/OR16-10 immunoglobulin heavy variable 3/OR16-10 Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-11 2013-10-18 28306 ENSG00000233732 OTTHUMG00000176446 uc059tqx.1 Z29607 NG_065954 IGHV3/OR16-10 HGNC:5634 +HGNC:5635 IGHV3OR16-11 immunoglobulin heavy variable 3/OR16-11 (pseudogene) pseudogene immunoglobulin pseudogene Approved 16p11.2 16p11.2 IGHV3/OR16-11 "immunoglobulin heavy variable 3/OR16-11|immunoglobulin heavy variable 3/OR16-11 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2013-12-06 28305 ENSG00000270318 OTTHUMG00000184731 Z29608 NG_065953 PGOHUM00000264439 IGHV3/OR16-11 HGNC:5635 +HGNC:5636 IGHV3OR16-12 immunoglobulin heavy variable 3/OR16-12 (non-functional) other immunoglobulin gene Approved 16p11.2 16p11.2 IGHV3/OR16-12 immunoglobulin heavy variable 3/OR16-12 Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-11 2013-10-18 28304 ENSG00000270467 OTTHUMG00000176355 uc059tru.1 Z29609 NG_065952 IGHV3/OR16-12 HGNC:5636 +HGNC:5637 IGHV3OR16-13 immunoglobulin heavy variable 3/OR16-13 (non-functional) other immunoglobulin gene Approved 16p11.2 16p11.2 IGHV3/OR16-13 immunoglobulin heavy variable 3/OR16-13 Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-11 2013-12-06 100287372 ENSG00000271178 OTTHUMG00000176357 uc059trv.1 Z29610 NG_011771 RGD:7592549 IGHV3/OR16-13 HGNC:5637 +HGNC:5638 IGHV3OR16-14 immunoglobulin heavy variable 3/OR16-14 (pseudogene) pseudogene immunoglobulin pseudogene Approved 16p11.2 16p11.2 IGHV3/OR16-14 "immunoglobulin heavy variable 3/OR16-14|immunoglobulin heavy variable 3/OR16-14 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2012-01-20 100568447 Z29611 IGHV3/OR16-14 +HGNC:5639 IGHV3OR16-15 immunoglobulin heavy variable 3/OR16-15 (pseudogene) pseudogene immunoglobulin pseudogene Approved 16p11.2 16p11.2 IGHV3/OR16-15 "immunoglobulin heavy variable 3/OR16-15|immunoglobulin heavy variable 3/OR16-15 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2020-06-29 28300 ENSG00000261834 OTTHUMG00000176442 L25546 NG_065950 PGOHUM00000249079 IGHV3/OR16-15 HGNC:5639 +HGNC:5640 IGHV3OR16-16 immunoglobulin heavy variable 3/OR16-16 (pseudogene) pseudogene immunoglobulin pseudogene Approved 16p11.2 16p11.2 IGHV3/OR16-16 "immunoglobulin heavy variable 3/OR16-16|immunoglobulin heavy variable 3/OR16-16 pseudogene" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2011-04-15 2020-06-29 28301 ENSG00000259842 OTTHUMG00000176367 Z29613 NG_065951 PGOHUM00000259061 IGHV3/OR16-16 HGNC:5640 +HGNC:55105 IGHV3OR16-17 immunoglobulin heavy variable 3/OR16-17 (non-functional) other immunoglobulin gene Approved 16p11.2 16p11.2 IGHV3/OR16-17 Immunoglobulin heavy (IGH) orphons 350 2020-06-26 2020-06-26 390714 ENSG00000259680 +HGNC:5652 IGHV4-4 immunoglobulin heavy variable 4-4 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2015-02-02 28401 ENSG00000276775 OTTHUMG00000152322 uc059gfp.1 X62112 NG_001019 A0A075B6R2 "MGI:3648045|MGI:4439856" IGHV4-4 HGNC:5652 +HGNC:5645 IGHV4-28 immunoglobulin heavy variable 4-28 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28400 ENSG00000211952 OTTHUMG00000152062 uc059gge.1 X05714 NG_001019 A0A0C4DH34 "MGI:3648045|MGI:4439856" IGHV4-28 HGNC:5645 +HGNC:5646 IGHV4-30-1 immunoglobulin heavy variable 4-30-1 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28399 L10098 IGHV4-30-1 +HGNC:5647 IGHV4-30-2 immunoglobulin heavy variable 4-30-2 other immunoglobulin gene Approved 14q32.33 14q32.33 "IGHV4-3|IGHV4302" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28398 L10089 NG_001019 A0A087WSY4 8454861 IGHV4-30-2 HGNC:5647 +HGNC:5648 IGHV4-30-4 immunoglobulin heavy variable 4-30-4 other immunoglobulin gene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly "IGHV4-3|IGHV4304" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2016-11-10 28397 Z14238 P0DP06 "MGI:3648045|MGI:4439856" IGHV4-30-4 +HGNC:5649 IGHV4-31 immunoglobulin heavy variable 4-31 other immunoglobulin gene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2016-11-10 28396 ENSG00000231475 OTTHUMG00000152097 uc059ggg.1 L10098 NG_001019 P0DP07 "MGI:3648045|MGI:4439856" IGHV4-31 HGNC:5649 +HGNC:5650 IGHV4-34 immunoglobulin heavy variable 4-34 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28395 ENSG00000211956 OTTHUMG00000152074 uc059ggi.1 X92278 NG_001019 P06331 "MGI:3648045|MGI:4439856" 356638 IGHV4-34 HGNC:5650 +HGNC:5657 IGHV4-38-2 immunoglobulin heavy variable 4-38-2 other immunoglobulin gene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly IGHV4-B immunoglobulin heavy variable 4-B (provisional) Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-04-09 2014-04-09 2016-11-10 28389 Z12367 P0DP08 "MGI:3648045|MGI:4439856" IGHV4-38-2 +HGNC:5651 IGHV4-39 immunoglobulin heavy variable 4-39 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28394 ENSG00000211959 OTTHUMG00000152067 uc059ggl.1 L10094 NG_001019 P01824 "MGI:3648045|MGI:4439856" IGHV4-39 HGNC:5651 +HGNC:5653 IGHV4-55 immunoglobulin heavy variable 4-55 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 4-55|immunoglobulin heavy variable 4-55 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28393 ENSG00000254395 OTTHUMG00000151955 M99685 NG_001019 PGOHUM00000247966 IGHV4-55 HGNC:5653 +HGNC:5654 IGHV4-59 immunoglobulin heavy variable 4-59 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28392 ENSG00000224373 OTTHUMG00000151973 uc059ggx.1 L10088 NG_001019 P01825 "MGI:3648045|MGI:4439856" IGHV4-59 HGNC:5654 +HGNC:5655 IGHV4-61 immunoglobulin heavy variable 4-61 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28391 ENSG00000211970 OTTHUMG00000151976 uc059ggz.1 M29811 NG_001019 A0A0C4DH41 "MGI:3648045|MGI:4439856" IGHV4-61 HGNC:5655 +HGNC:5656 IGHV4-80 immunoglobulin heavy variable 4-80 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 4-80|immunoglobulin heavy variable 4-80 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2017-10-26 28390 ENSG00000283906 OTTHUMG00000191973 AB019437 NG_001019 PGOHUM00000292532 IGHV4-80 HGNC:5656 +HGNC:5658 IGHV4OR15-8 immunoglobulin heavy variable 4/OR15-8 (non-functional) other immunoglobulin gene Approved 15q11.2 15q11.2 "IGHV4/OR15-8|IGHV4OR158" VSIG6 "immunoglobulin heavy variable 4/OR15-8|V-set and immunoglobulin domain containing 6" Immunoglobulin heavy (IGH) orphons 350 2000-04-17 2008-09-15 2014-11-19 28317 ENSG00000259261 OTTHUMG00000171934 uc059grc.1 Z29598 7951227 RGD:2320755 IGHV4/OR15-8 +HGNC:5661 IGHV5-10-1 immunoglobulin heavy variable 5-10-1 other immunoglobulin gene Approved 14q32.33 14q32.33 IGHV5-a IGHV5-A "immunoglobulin heavy variable 5-A (provisional, gene/pseudogene)|immunoglobulin heavy variable 5-A (provisional)" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2014-06-11 2014-06-11 2017-10-26 28386 ENSG00000282651 OTTHUMG00000191143 X92227 NG_001019 A0A0J9YXX1 IGHV5-10-1 HGNC:5661 +HGNC:5659 IGHV5-51 immunoglobulin heavy variable 5-51 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28388 ENSG00000211966 OTTHUMG00000151960 uc059ggu.1 M99686 NG_001019 A0A0C4DH38 IGHV5-51 HGNC:5659 +HGNC:5660 IGHV5-78 immunoglobulin heavy variable 5-78 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 5-78|immunoglobulin heavy variable 5-78 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28387 ENSG00000211978 OTTHUMG00000151873 X92213 NG_001019 PGOHUM00000250119 IGHV5-78 HGNC:5660 +HGNC:5662 IGHV6-1 immunoglobulin heavy variable 6-1 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2012-02-08 28385 ENSG00000211933 OTTHUMG00000152324 uc059gfm.1 X92224 NG_001019 A0A0B4J1U7 IGHV6-1 HGNC:5662 +HGNC:5665 IGHV7-4-1 immunoglobulin heavy variable 7-4-1 other immunoglobulin gene Approved 14q32.33 14q32.33 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2017-10-26 57289 ENSG00000282122 OTTHUMG00000191141 L10057 NG_001019 A0A0J9YVY3 IGHV7-4-1 HGNC:5665 +HGNC:5663 IGHV7-27 immunoglobulin heavy variable 7-27 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 7-27|immunoglobulin heavy variable 7-27 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28383 ENSG00000254326 OTTHUMG00000152070 M99643 NG_001019 PGOHUM00000247936 IGHV7-27 HGNC:5663 +HGNC:5664 IGHV7-34-1 immunoglobulin heavy variable 7-34-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 7-34-1|immunoglobulin heavy variable 7-34-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28382 ENSG00000253325 OTTHUMG00000152085 AB019439 NG_001019 PGOHUM00000247947 IGHV7-34-1 HGNC:5664 +HGNC:5666 IGHV7-40 immunoglobulin heavy variable 7-40 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 7-40|immunoglobulin heavy variable 7-40 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28381 ENSG00000253467 OTTHUMG00000152088 M99644 NG_001019 PGOHUM00000247953 IGHV7-40 HGNC:5666 +HGNC:5667 IGHV7-56 immunoglobulin heavy variable 7-56 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 "immunoglobulin heavy variable 7-56|immunoglobulin heavy variable 7-56 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2011-04-15 2012-02-08 28380 ENSG00000253131 OTTHUMG00000151975 M29810 NG_001019 PGOHUM00000247967 IGHV7-56 HGNC:5667 +HGNC:5669 IGHV7-81 immunoglobulin heavy variable 7-81 (non-functional) other immunoglobulin gene Approved 14q32.33 14q32.33 immunoglobulin heavy variable 7-81 Immunoglobulin heavy locus at 14q32.33 349 2000-04-04 2008-09-09 2012-02-08 28378 ENSG00000211979 OTTHUMG00000151731 uc059ghm.1 Z27509 NG_001019 A0A0B4J1V7 IGHV7-81 HGNC:5669 +HGNC:5704 IGHV8-51-1 immunoglobulin heavy variable IGHV8-51-1 (non-functional) other immunoglobulin gene Approved 14q32.33 14q32.33 IGHV(III)-51-1 IGHVIII-51-1 "immunoglobulin heavy variable (III)-51-1|immunoglobulin heavy variable (III)-51-1 pseudogene|immunoglobulin heavy variable (III)-51-1 (pseudogene)|immunoglobulin heavy variable IGHV8-51-1 (pseudogene)" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2019-07-19 2019-07-31 2019-07-31 28343 ENSG00000254167 OTTHUMG00000151957 AB019438 NG_001019 P0DTE2 PGOHUM00000247961 IGHV8-51-1 HGNC:5704 +HGNC:5670 IGHVII-1-1 immunoglobulin heavy variable (II)-1-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-1-1 "immunoglobulin heavy variable (II)-1-1|immunoglobulin heavy variable (II)-1-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28377 ENSG00000254279 OTTHUMG00000152325 AB019441 NG_001019 IGHV(II)-1-1 HGNC:5670 +HGNC:5671 IGHVII-15-1 immunoglobulin heavy variable (II)-15-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-15-1 "immunoglobulin heavy variable (II)-15-1|immunoglobulin heavy variable (II)-15-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28376 ENSG00000253458 OTTHUMG00000152275 AB019440 NG_001019 IGHV(II)-15-1 HGNC:5671 +HGNC:5672 IGHVII-20-1 immunoglobulin heavy variable (II)-20-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-20-1 "immunoglobulin heavy variable (II)-20-1|immunoglobulin heavy variable (II)-20-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2015-02-02 28375 AB019440 NG_001019 IGHV(II)-20-1 HGNC:5672 +HGNC:5673 IGHVII-22-1 immunoglobulin heavy variable (II)-22-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-22-1 "immunoglobulin heavy variable (II)-22-1|immunoglobulin heavy variable (II)-22-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28374 ENSG00000253345 OTTHUMG00000152102 AB019439 NG_001019 IGHV(II)-22-1 HGNC:5673 +HGNC:5674 IGHVII-26-2 immunoglobulin heavy variable (II)-26-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-26-2 "immunoglobulin heavy variable (II)-26-2|immunoglobulin heavy variable (II)-26-2 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28373 ENSG00000253482 OTTHUMG00000152066 AB019439 NG_001019 PGOHUM00000247935 IGHV(II)-26-2 HGNC:5674 +HGNC:5675 IGHVII-28-1 immunoglobulin heavy variable (II)-28-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-28-1 "immunoglobulin heavy variable (II)-28-1|immunoglobulin heavy variable (II)-28-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2017-10-30 28372 ENSG00000253149 OTTHUMG00000152101 AB019439 NG_001019 IGHV(II)-28-1 HGNC:5675 +HGNC:5676 IGHVII-30-1 immunoglobulin heavy variable (II)-30-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-30-1 "immunoglobulin heavy variable (II)-30-1|immunoglobulin heavy variable (II)-30-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28371 ENSG00000253491 OTTHUMG00000152099 AB019439 NG_001019 PGOHUM00000247940 IGHV(II)-30-1 HGNC:5676 +HGNC:52400 IGHVII-30-21 immunoglobulin heavy variable (II)-30-21 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-30-21 Immunoglobulin heavy locus at 14q32.33 349 2016-11-10 2017-11-08 107548099 ENSG00000283607 OTTHUMG00000191969 NG_001019 IGHV(II)-30-21 HGNC:52400 +HGNC:5677 IGHVII-31-1 immunoglobulin heavy variable (II)-31-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 not on reference assembly 14q32.33 not on reference assembly IGHV(II)-31-1 "immunoglobulin heavy variable (II)-31-1|immunoglobulin heavy variable (II)-31-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2016-11-10 28370 OTTHUMG00000191969 AB019439 IGHV(II)-31-1 HGNC:5677 +HGNC:5678 IGHVII-33-1 immunoglobulin heavy variable (II)-33-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-33-1 "immunoglobulin heavy variable (II)-33-1|immunoglobulin heavy variable (II)-33-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28369 ENSG00000254203 OTTHUMG00000152086 AB019439 NG_001019 PGOHUM00000247945 IGHV(II)-33-1 HGNC:5678 +HGNC:5679 IGHVII-40-1 immunoglobulin heavy variable (II)-40-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-40-1 "immunoglobulin heavy variable (II)-40-1|immunoglobulin heavy variable (II)-40-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28368 ENSG00000253294 OTTHUMG00000152098 AB019438 NG_001019 IGHV(II)-40-1 HGNC:5679 +HGNC:5680 IGHVII-43-1 immunoglobulin heavy variable (II)-43-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-43-1 "immunoglobulin heavy variable (II)-43-1|immunoglobulin heavy variable (II)-43-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2017-10-30 28367 ENSG00000283195 OTTHUMG00000191837 AB019438 NG_001019 PGOHUM00000292502 IGHV(II)-43-1 HGNC:5680 +HGNC:5681 IGHVII-44-2 immunoglobulin heavy variable (II)-44-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-44-2 "immunoglobulin heavy variable (II)-44-2|immunoglobulin heavy variable (II)-44-2 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28366 ENSG00000253895 OTTHUMG00000152080 AB019438 NG_001019 IGHV(II)-44-2 HGNC:5681 +HGNC:5682 IGHVII-46-1 immunoglobulin heavy variable (II)-46-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-46-1 "immunoglobulin heavy variable (II)-46-1|immunoglobulin heavy variable (II)-46-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28365 ENSG00000253808 OTTHUMG00000151952 AB019438 NG_001019 IGHV(II)-46-1 HGNC:5682 +HGNC:5683 IGHVII-49-1 immunoglobulin heavy variable (II)-49-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-49-1 "immunoglobulin heavy variable (II)-49-1|immunoglobulin heavy variable (II)-49-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28364 ENSG00000253386 OTTHUMG00000151974 AB019438 NG_001019 IGHV(II)-49-1 HGNC:5683 +HGNC:5684 IGHVII-51-2 immunoglobulin heavy variable (II)-51-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-51-2 "immunoglobulin heavy variable (II)-51-2|immunoglobulin heavy variable (II)-51-2 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28363 ENSG00000253941 OTTHUMG00000151969 AB019438 NG_001019 PGOHUM00000247962 IGHV(II)-51-2 HGNC:5684 +HGNC:5685 IGHVII-53-1 immunoglobulin heavy variable (II)-53-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-53-1 "immunoglobulin heavy variable (II)-53-1|immunoglobulin heavy variable (II)-53-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28362 ENSG00000253714 OTTHUMG00000151954 AB019438 NG_001019 IGHV(II)-53-1 HGNC:5685 +HGNC:5686 IGHVII-60-1 immunoglobulin heavy variable (II)-60-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-60-1 "immunoglobulin heavy variable (II)-60-1|immunoglobulin heavy variable (II)-60-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28361 ENSG00000254329 OTTHUMG00000151951 AB019437 NG_001019 PGOHUM00000247972 IGHV(II)-60-1 HGNC:5686 +HGNC:5687 IGHVII-62-1 immunoglobulin heavy variable (II)-62-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-62-1 "immunoglobulin heavy variable (II)-62-1|immunoglobulin heavy variable (II)-62-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28360 ENSG00000253747 OTTHUMG00000151965 AB019437 NG_001019 IGHV(II)-62-1 HGNC:5687 +HGNC:5688 IGHVII-65-1 immunoglobulin heavy variable (II)-65-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-65-1 "immunoglobulin heavy variable (II)-65-1|immunoglobulin heavy variable (II)-65-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28359 ENSG00000253169 OTTHUMG00000151970 AB019437 NG_001019 IGHV(II)-65-1 HGNC:5688 +HGNC:5689 IGHVII-67-1 immunoglobulin heavy variable (II)-67-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-67-1 "immunoglobulin heavy variable (II)-67-1|immunoglobulin heavy variable (II)-67-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28358 ENSG00000253820 OTTHUMG00000151864 AB019437 NG_001019 IGHV(II)-67-1 HGNC:5689 +HGNC:5690 IGHVII-74-1 immunoglobulin heavy variable (II)-74-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-74-1 "immunoglobulin heavy variable (II)-74-1|immunoglobulin heavy variable (II)-74-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28357 ENSG00000254134 OTTHUMG00000151875 AB019437 NG_001019 IGHV(II)-74-1 HGNC:5690 +HGNC:5691 IGHVII-78-1 immunoglobulin heavy variable (II)-78-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(II)-78-1 "immunoglobulin heavy variable (II)-78-1|immunoglobulin heavy variable (II)-78-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28356 ENSG00000253674 OTTHUMG00000151863 AB019437 NG_001019 IGHV(II)-78-1 HGNC:5691 +HGNC:5695 IGHVIII-2-1 immunoglobulin heavy variable (III)-2-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-2-1 "immunoglobulin heavy variable (III)-2-1|immunoglobulin heavy variable (III)-2-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28355 ENSG00000253780 OTTHUMG00000152321 AB019441 NG_001019 IGHV(III)-2-1 HGNC:5695 +HGNC:5702 IGHVIII-5-1 immunoglobulin heavy variable (III)-5-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-5-1 "immunoglobulin heavy variable (III)-5-1|immunoglobulin heavy variable (III)-5-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28354 ENSG00000253387 OTTHUMG00000152274 AB019440 NG_001019 IGHV(III)-5-1 HGNC:5702 +HGNC:5703 IGHVIII-5-2 immunoglobulin heavy variable (III)-5-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-5-2 "immunoglobulin heavy variable (III)-5-2|immunoglobulin heavy variable (III)-5-2 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28353 ENSG00000254053 OTTHUMG00000152278 AB019440 NG_001019 IGHV(III)-5-2 HGNC:5703 +HGNC:5692 IGHVIII-11-1 immunoglobulin heavy variable (III)-11-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-11-1 "immunoglobulin heavy variable (III)-11-1|immunoglobulin heavy variable (III)-11-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28352 ENSG00000254215 OTTHUMG00000152296 AB019440 NG_001019 IGHV(III)-11-1 HGNC:5692 +HGNC:5693 IGHVIII-13-1 immunoglobulin heavy variable (III)-13-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-13-1 "immunoglobulin heavy variable (III)-13-1|immunoglobulin heavy variable (III)-13-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28351 ENSG00000253412 OTTHUMG00000152272 AB019440 NG_001019 IGHV(III)-13-1 HGNC:5693 +HGNC:5694 IGHVIII-16-1 immunoglobulin heavy variable (III)-16-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-16-1 "immunoglobulin heavy variable (III)-16-1|immunoglobulin heavy variable (III)-16-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2017-10-30 28350 ENSG00000283948 OTTHUMG00000191975 AB019440 NG_001019 PGOHUM00000292480 IGHV(III)-16-1 HGNC:5694 +HGNC:5696 IGHVIII-22-2 immunoglobulin heavy variable (III)-22-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-22-2 "immunoglobulin heavy variable (III)-22-2|immunoglobulin heavy variable (III)-22-2 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28349 ENSG00000254045 OTTHUMG00000152060 AB019439 NG_001019 IGHV(III)-22-2 HGNC:5696 +HGNC:5697 IGHVIII-25-1 immunoglobulin heavy variable (III)-25-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-25-1 "immunoglobulin heavy variable (III)-25-1|immunoglobulin heavy variable (III)-25-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28348 ENSG00000253367 OTTHUMG00000152072 AB019439 NG_001019 IGHV(III)-25-1 HGNC:5697 +HGNC:5698 IGHVIII-26-1 immunoglobulin heavy variable (III)-26-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-26-1 "immunoglobulin heavy variable (III)-26-1|immunoglobulin heavy variable (III)-26-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28347 ENSG00000253462 OTTHUMG00000152059 AB019439 NG_001019 IGHV(III)-26-1 HGNC:5698 +HGNC:5699 IGHVIII-38-1 immunoglobulin heavy variable (III)-38-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-38-1 "immunoglobulin heavy variable (III)-38-1|immunoglobulin heavy variable (III)-38-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28346 ENSG00000253989 OTTHUMG00000152090 AB019439 NG_001019 IGHV(III)-38-1 HGNC:5699 +HGNC:5700 IGHVIII-44 immunoglobulin heavy variable (III)-44 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-44 "immunoglobulin heavy variable (III)-44|immunoglobulin heavy variable (III)-44 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2016-10-04 28345 ENSG00000283562 OTTHUMG00000152065 M99673 NG_001019 IGHV(III)-44 HGNC:5700 +HGNC:5701 IGHVIII-47-1 immunoglobulin heavy variable (III)-47-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-47-1 "immunoglobulin heavy variable (III)-47-1|immunoglobulin heavy variable (III)-47-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28344 ENSG00000253862 OTTHUMG00000151949 AB019438 NG_001019 IGHV(III)-47-1 HGNC:5701 +HGNC:5705 IGHVIII-67-2 immunoglobulin heavy variable (III)-67-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-67-2 "immunoglobulin heavy variable (III)-67-2|immunoglobulin heavy variable (III)-67-2 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28342 ENSG00000254036 OTTHUMG00000151861 AB019437 NG_001019 IGHV(III)-67-2 HGNC:5705 +HGNC:5706 IGHVIII-67-3 immunoglobulin heavy variable (III)-67-3 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-67-3 "immunoglobulin heavy variable (III)-67-3|immunoglobulin heavy variable (III)-67-3 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28341 ENSG00000253635 OTTHUMG00000151879 AB019437 NG_001019 IGHV(III)-67-3 HGNC:5706 +HGNC:5707 IGHVIII-67-4 immunoglobulin heavy variable (III)-67-4 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-67-4 "immunoglobulin heavy variable (III)-67-4|immunoglobulin heavy variable (III)-67-4 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28340 ENSG00000254052 OTTHUMG00000151874 AB019437 NG_001019 IGHV(III)-67-4 HGNC:5707 +HGNC:5708 IGHVIII-76-1 immunoglobulin heavy variable (III)-76-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-76-1 "immunoglobulin heavy variable (III)-76-1|immunoglobulin heavy variable (III)-76-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28339 ENSG00000253310 OTTHUMG00000151872 AB019437 NG_001019 PGOHUM00000247990 IGHV(III)-76-1 HGNC:5708 +HGNC:5709 IGHVIII-82 immunoglobulin heavy variable (III)-82 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(III)-82 "immunoglobulin heavy variable (III)-82|immunoglobulin heavy variable (III)-82 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28338 ENSG00000253303 OTTHUMG00000151732 AB019437 NG_001019 PGOHUM00000247994 IGHV(III)-82 HGNC:5709 +HGNC:5710 IGHVIV-44-1 immunoglobulin heavy variable (IV)-44-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 14q32.33 14q32.33 IGHV(IV)-44-1 "immunoglobulin heavy variable (IV)-44-1|immunoglobulin heavy variable (IV)-44-1 pseudogene" Immunoglobulin heavy locus at 14q32.33 349 2000-04-17 2011-04-15 2012-02-08 28337 ENSG00000253465 OTTHUMG00000152064 AB019438 NG_001019 IGHV(IV)-44-1 HGNC:5710 +HGNC:33847 IGIP IgA inducing protein protein-coding gene gene with protein product Approved 5q31.3 05q31.3 LOC492311 C5orf53 "chromosome 5 open reading frame 53|IgA-inducing protein homolog (Bos taurus)" 2009-02-16 2011-09-22 2016-06-13 2016-10-05 492311 ENSG00000182700 OTTHUMG00000163359 uc003lfb.2 "AB073888|BC017422|BC041380" NM_001007189 CCDS34244 A6NJ69 "19201837|12874223|21074276" MGI:1924271 RGD:2323374 HGNC:33847 "ENST00000333305.5|NM_001007189.2" +HGNC:5715 IGK immunoglobulin kappa locus protein-coding gene gene with protein product Approved 2p11.2 02p11.2 IGK@ Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2013-03-05 2013-03-05 50802 NG_000833 HGNC:5715 +HGNC:5716 IGKC immunoglobulin kappa constant other immunoglobulin gene Approved 2p11.2 02p11.2 HCAK1 Immunoglobulin kappa locus at 2p11.2 351 2001-06-22 2014-11-19 3514 ENSG00000211592 OTTHUMG00000151684 uc284ppo.1 J00241 NG_000834 P01834 10354514 MGI:96495 RGD:1562743 IMGT; the international ImMunoGeneTics information system ®|http://www.imgt.org 147200 270009 IGKC HGNC:5716 HGNC:5716 +HGNC:5717 IGKDEL immunoglobulin kappa deleting element or like other unknown Approved 2q11-q13 02q11-q13 IGKDE 2001-06-22 2019-06-26 3515 X03957 NG_000834 3086844 146780 HGNC:5717 +HGNC:5719 IGKJ1 immunoglobulin kappa joining 1 other immunoglobulin gene Approved 2p11.2 02p11.2 J1 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28950 ENSG00000211597 OTTHUMG00000151679 uc061lqh.1 J00242 NG_000834 A0A0A0MT89 IGKJ1 HGNC:5719 +HGNC:5720 IGKJ2 immunoglobulin kappa joining 2 other immunoglobulin gene Approved 2p11.2 02p11.2 J2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28949 ENSG00000211596 OTTHUMG00000151691 uc061lqg.1 J00242 NG_000834 IGKJ2 HGNC:5720 +HGNC:5721 IGKJ3 immunoglobulin kappa joining 3 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28948 ENSG00000211595 OTTHUMG00000151680 uc061lqf.1 J00242 NG_000834 IGKJ3 HGNC:5721 +HGNC:5722 IGKJ4 immunoglobulin kappa joining 4 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28947 ENSG00000211594 OTTHUMG00000151695 uc061lqe.1 J00242 NG_000834 IGKJ4 HGNC:5722 +HGNC:5723 IGKJ5 immunoglobulin kappa joining 5 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-10-05 28946 ENSG00000211593 OTTHUMG00000151676 uc061lqd.1 J00242 NG_000834 IGKJ5 HGNC:5723 +HGNC:5741 IGKV1-5 immunoglobulin kappa variable 1-5 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28299 ENSG00000243466 OTTHUMG00000151560 uc061lqk.1 Z00001 NG_000834 P01602 "MGI:3525017|MGI:4439772|MGI:4439775" IGKV1-5 HGNC:5741 +HGNC:5742 IGKV1-6 immunoglobulin kappa variable 1-6 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-10 28943 ENSG00000239855 OTTHUMG00000151559 uc061lql.1 M64858 NG_000834 A0A0C4DH72 MGI:3525017 IGKV1-6 HGNC:5742 +HGNC:5743 IGKV1-8 immunoglobulin kappa variable 1-8 other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV18|L9" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-10 28942 ENSG00000240671 OTTHUMG00000151634 uc284ppp.1 Z00014 NG_000834 A0A0C4DH67 "MGI:4439772|MGI:4439775" IGKV1-8 HGNC:5743 +HGNC:5744 IGKV1-9 immunoglobulin kappa variable 1-9 other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV19|L8" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-10 28941 ENSG00000241755 OTTHUMG00000151637 uc061lqo.1 Z00013 NG_000834 A0A0C4DH69 "MGI:4439772|MGI:4439775" IGKV1-9 HGNC:5744 +HGNC:5730 IGKV1-12 immunoglobulin kappa variable 1-12 other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV112|L19" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-10 28940 ENSG00000243290 OTTHUMG00000151643 uc284ppq.1 V01577 NG_000834 A0A0C4DH73 MGI:4439863 IGKV1-12 HGNC:5730 +HGNC:5731 IGKV1-13 immunoglobulin kappa variable 1-13 other immunoglobulin gene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 1-13 (gene/pseudogene) Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2020-05-01 2020-05-01 28939 ENSG00000253497 OTTHUMG00000151647 Z00010 NG_000834 P0DP09 "MGI:3525017|MGI:4439772|MGI:4439775" IGKV1-13 HGNC:5731 +HGNC:5732 IGKV1-16 immunoglobulin kappa variable 1-16 other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV116|L1" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-10 28938 ENSG00000240864 OTTHUMG00000151649 uc061lqs.1 J00248 NG_000834 P04430 MGI:3525017 IGKV1-16 HGNC:5732 +HGNC:5733 IGKV1-17 immunoglobulin kappa variable 1-17 other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV117|A30" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28937 ENSG00000240382 OTTHUMG00000151650 uc061lqt.1 X72808 NG_000834 P01599 MGI:3525017 IGKV1-17 HGNC:5733 +HGNC:5734 IGKV1-22 immunoglobulin kappa variable 1-22 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 1-22|immunoglobulin kappa variable 1-22 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28936 ENSG00000253578 OTTHUMG00000151646 X71885 NG_000834 PGOHUM00000240154 IGKV1-22 HGNC:5734 +HGNC:5735 IGKV1-27 immunoglobulin kappa variable 1-27 other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV127|A20" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-10 28935 ENSG00000244575 OTTHUMG00000151640 uc061lqx.1 X63398 NG_000834 A0A075B6S5 "MGI:4439772|MGI:4439775" IGKV1-27 HGNC:5735 +HGNC:5736 IGKV1-32 immunoglobulin kappa variable 1-32 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 1-32|immunoglobulin kappa variable 1-32 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28934 ENSG00000253870 OTTHUMG00000151687 X71883 NG_000834 PGOHUM00000240163 IGKV1-32 HGNC:5736 +HGNC:5737 IGKV1-33 immunoglobulin kappa variable 1-33 other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV133|O18" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-10 28933 ENSG00000242076 OTTHUMG00000151682 uc061lrb.1 M64856 NG_000834 P01594 IGKV1-33 HGNC:5737 +HGNC:5738 IGKV1-35 immunoglobulin kappa variable 1-35 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 1-35|immunoglobulin kappa variable 1-35 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28932 ENSG00000253461 OTTHUMG00000151681 X71890 NG_000834 PGOHUM00000240166 IGKV1-35 HGNC:5738 +HGNC:5739 IGKV1-37 immunoglobulin kappa variable 1-37 (non-functional) other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV137|O14" immunoglobulin kappa variable 1-37 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2008-09-15 2012-02-08 28931 ENSG00000239862 OTTHUMG00000151689 uc061lrc.1 X59316 NG_000834 A0A075B6S9 IGKV1-37 HGNC:5739 +HGNC:5740 IGKV1-39 immunoglobulin kappa variable 1-39 other immunoglobulin gene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 1-39 (gene/pseudogene) Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2020-05-01 2020-05-01 28930 ENSG00000242371 OTTHUMG00000151678 uc061lrd.1 X59315 NG_000834 P01597 "MGI:3525017|MGI:4439772|MGI:4439775" IGKV1-39 HGNC:5740 +HGNC:5759 IGKV1D-8 immunoglobulin kappa variable 1D-8 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28904 ENSG00000239819 OTTHUMG00000151570 uc061lse.1 Z00008 NG_000833 A0A087WSZ0 "MGI:4439772|MGI:4439775" IGKV1D-8 HGNC:5759 +HGNC:5746 IGKV1D-12 immunoglobulin kappa variable 1D-12 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2015-02-02 28903 ENSG00000278857 OTTHUMG00000188272 uc061lsb.1 X17263 NG_000833 P01611 MGI:4439863 IGKV1D-12 HGNC:5746 +HGNC:5747 IGKV1D-13 immunoglobulin kappa variable 1D-13 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2015-02-02 28902 ENSG00000276566 OTTHUMG00000188271 uc061lsa.1 X17262 NG_000833 A0A0B4J2D9 "MGI:3525017|MGI:4439772|MGI:4439775" IGKV1D-13 HGNC:5747 +HGNC:5748 IGKV1D-16 immunoglobulin kappa variable 1D-16 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28901 ENSG00000241244 OTTHUMG00000151569 uc061lrx.1 K01323 NG_000833 P01601 IGKV1D-16 HGNC:5748 +HGNC:5749 IGKV1D-17 immunoglobulin kappa variable 1D-17 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28900 ENSG00000242766 OTTHUMG00000151610 uc061lrw.1 X63392 NG_000833 A0A075B6S4 MGI:3525017 IGKV1D-17 HGNC:5749 +HGNC:5750 IGKV1D-22 immunoglobulin kappa variable 1D-22 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 1D-22 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2013-02-18 28899 ENSG00000253365 OTTHUMG00000151604 X71887 NG_000833 PGOHUM00000240746 IGKV1D-22 HGNC:5750 +HGNC:5751 IGKV1D-27 immunoglobulin kappa variable 1D-27 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 1D-27 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28898 ENSG00000224607 OTTHUMG00000151607 Z00004 NG_000833 PGOHUM00000240740 IGKV1D-27 HGNC:5751 +HGNC:5752 IGKV1D-32 immunoglobulin kappa variable 1D-32 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 1D-32 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28897 ENSG00000253191 OTTHUMG00000151614 X71896 NG_000833 PGOHUM00000240735 IGKV1D-32 HGNC:5752 +HGNC:5753 IGKV1D-33 immunoglobulin kappa variable 1D-33 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28896 ENSG00000239975 OTTHUMG00000151602 uc061lrl.1 M64855 NG_000833 P01593 "MGI:3642338|MGI:4439772|MGI:4439775" IGKV1D-33 HGNC:5753 +HGNC:5754 IGKV1D-35 immunoglobulin kappa variable 1D-35 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 1D-35|immunoglobulin kappa variable 1D-35 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2020-04-20 28895 ENSG00000232747 OTTHUMG00000151603 X71894 NG_000833 PGOHUM00000240731 IGKV1D-35 HGNC:5754 +HGNC:5755 IGKV1D-37 immunoglobulin kappa variable 1D-37 (non-functional) other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV1D37|O4" immunoglobulin kappa variable 1D-37 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2008-09-09 2012-02-10 28894 ENSG00000250036 OTTHUMG00000159960 uc061lrk.1 X71893 NG_000833 P0DSN7 IGKV1D-37 HGNC:5755 +HGNC:5756 IGKV1D-39 immunoglobulin kappa variable 1D-39 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28893 ENSG00000251546 OTTHUMG00000159962 uc061lrj.1 X59312 NG_000833 P04432 "MGI:3525017|MGI:4439772|MGI:4439775" IGKV1D-39 HGNC:5756 +HGNC:5757 IGKV1D-42 immunoglobulin kappa variable 1D-42 (non-functional) other immunoglobulin gene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 1D-42 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2008-09-09 2012-02-08 28892 ENSG00000211633 OTTHUMG00000151573 uc061lsc.1 X72816 NG_000833 A0A075B6H8 IGKV1D-42 HGNC:5757 +HGNC:5758 IGKV1D-43 immunoglobulin kappa variable 1D-43 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-10-03 28891 ENSG00000242580 OTTHUMG00000151572 uc061lsd.1 X72817 NG_000833 A0A0B4J1Z2 "MGI:4439772|MGI:4439775" IGKV1D-43 HGNC:5758 +HGNC:5761 IGKV1OR-2 immunoglobulin kappa variable 1/OR-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 9q13 09q13 IGKV1/OR-2 IGKVPZ2 "immunoglobulin kappa variable 1/OR-2|immunoglobulin kappa variable 1/OR-2 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2016-10-05 3532 ENSG00000156755 OTTHUMG00000013330 X64640 NG_011657 2853098 PGOHUM00000267973 IGKV1/OR-2 HGNC:5761 +HGNC:5762 IGKV1OR-3 immunoglobulin kappa variable 1/OR-3 (pseudogene) pseudogene immunoglobulin pseudogene Approved 9q12 09q12 IGKV1/OR-3 IGKVPZ3 "immunoglobulin kappa variable 1/OR-3|immunoglobulin kappa variable 1/OR-3 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2013-12-06 644731 ENSG00000204776 OTTHUMG00000013335 X64641 NG_065962 1596359 PGOHUM00000250504 IGKV1/OR-3 HGNC:5762 +HGNC:5763 IGKV1OR-4 immunoglobulin kappa variable 1/OR-4 (pseudogene) pseudogene immunoglobulin pseudogene Approved reserved reserved IGKV1/OR-4 IGKVPZ4 "immunoglobulin kappa variable 1/OR-4|immunoglobulin kappa variable 1/OR-4 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2021-07-13 3534 X64642 1596359 IGKV1/OR-4 +HGNC:5764 IGKV1OR1-1 immunoglobulin kappa variable 1/OR1-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 1q21.1 01q21.1 IGKV1/OR1-1 IGKVP1 "immunoglobulin kappa variable 1/OR1-1|immunoglobulin kappa variable 1/OR1-1 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2016-10-11 3525 ENSG00000276674 OTTHUMG00000184566 M20809 NG_011766 2853099 IGKV1/OR1-1 HGNC:5764 +HGNC:5766 IGKV1OR2-0 immunoglobulin kappa variable 1/OR2-0 (non-functional) other immunoglobulin gene Approved 2p11.2 02p11.2 IGKV1/OR2-0 immunoglobulin kappa variable 1/OR2-0 Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2008-09-11 2012-01-20 28867 Y08392 IGKV1/OR2-0 +HGNC:5760 IGKV1OR2-1 immunoglobulin kappa variable 1/OR2-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.1 02p11.1 "IGKV1/OR-1|IGKV1/OR2-1" "IGKVPZ1|IGKV1OR-1" "immunoglobulin kappa variable 1/OR-1|immunoglobulin kappa variable 1/OR-1 pseudogene|immunoglobulin kappa variable 1/OR-1 (pseudogene)" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2014-04-09 2014-04-09 2014-04-09 3531 ENSG00000235235 OTTHUMG00000155081 Z12367 NG_078884 2853098 PGOHUM00000267928 IGKV1/OR2-1 +HGNC:49465 IGKV1OR2-2 immunoglobulin kappa variable 1/OR2-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.1 02p11.1 IGKV1/OR2-2 Immunoglobulin kappa (IGK) orphons 352 2014-01-10 2014-01-10 106481689 ENSG00000223816 OTTHUMG00000155090 NG_046320 PGOHUM00000267926 IGKV1/OR2-2 HGNC:49465 +HGNC:5769 IGKV1OR2-3 immunoglobulin kappa variable 1/OR2-3 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV1/OR2-3 "immunoglobulin kappa variable 1/OR2-3|immunoglobulin kappa variable 1/OR2-3 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2013-12-06 28866 ENSG00000204670 OTTHUMG00000155330 X05102 3037085 PGOHUM00000240806 IGKV1/OR2-3 +HGNC:5770 IGKV1OR2-6 immunoglobulin kappa variable 1/OR2-6 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV1/OR2-6 "immunoglobulin kappa variable 1/OR2-6|immunoglobulin kappa variable 1/OR2-6 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2013-12-06 28865 ENSG00000271569 OTTHUMG00000184513 X05103 3037085 PGOHUM00000240221 IGKV1/OR2-6 +HGNC:5771 IGKV1OR2-9 immunoglobulin kappa variable 1/OR2-9 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV1/OR2-9 "immunoglobulin kappa variable 1/OR2-9|immunoglobulin kappa variable 1/OR2-9 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2013-12-06 28864 ENSG00000271351 OTTHUMG00000184517 X51879 2111145 PGOHUM00000250468 IGKV1/OR2-9 +HGNC:5768 IGKV1OR2-11 immunoglobulin kappa variable 1/OR2-11 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV1/OR2-11 "immunoglobulin kappa variable 1/OR2-11|immunoglobulin kappa variable 1/OR2-11 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2013-12-06 28863 ENSG00000270187 OTTHUMG00000184518 X51885 NG_078888 2111145 PGOHUM00000250441 IGKV1/OR2-11 +HGNC:5767 IGKV1OR2-108 immunoglobulin kappa variable 1/OR2-108 (non-functional) other immunoglobulin gene Approved 2q12-q14 02q12-q14 "IGKV1/OR2-108|IGKV1OR2108|IGO1" immunoglobulin orphon (transposed element) 1 immunoglobulin kappa variable 1/OR2-108 Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2008-09-11 2013-12-06 28862 ENSG00000231292 OTTHUMG00000153338 uc061ndg.1 X51887 2114012 147185 IGKV1/OR2-108 +HGNC:37488 IGKV1OR2-118 immunoglobulin kappa variable 1/OR2-118 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 IGKV1/OR2-118 immunoglobulin kappa variable 1/OR2-118 pseudogene Immunoglobulin kappa (IGK) orphons 352 2009-11-04 2011-04-15 2015-01-20 339562 ENSG00000270999 OTTHUMG00000184560 NG_011659 PGOHUM00000297985 IGKV1/OR2-118 HGNC:37488 +HGNC:49473 IGKV1OR9-1 immunoglobulin kappa variable 1/OR9-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 9q21.11 09q21.11 IGKV1/OR9-1 Immunoglobulin kappa (IGK) orphons 352 2014-01-10 2014-01-10 2014-04-09 103352540 ENSG00000204780 OTTHUMG00000013334 NG_034159 PGOHUM00000267974 IGKV1/OR9-1 HGNC:49473 +HGNC:49466 IGKV1OR9-2 immunoglobulin kappa variable 1/OR9-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 9p12 09p12 IGKV1/OR9-2 Immunoglobulin kappa (IGK) orphons 352 2014-01-10 2014-01-10 106480274 ENSG00000225380 OTTHUMG00000066755 NG_046317 PGOHUM00000250523 IGKV1/OR9-2 HGNC:49466 +HGNC:44978 IGKV1OR10-1 immunoglobulin kappa variable 1/OR10-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 10q11.21 10q11.21 IGKV1/OR10-1 immunoglobulin heavy variable 1/OR10-1 (pseudogene) Immunoglobulin kappa (IGK) orphons 352 2013-01-04 2013-12-13 2017-08-14 642424 ENSG00000237592 OTTHUMG00000018005 PGOHUM00000264422 IGKV1/OR10-1 +HGNC:5765 IGKV1OR15-118 immunoglobulin kappa variable 1/OR15-118 (pseudogene) pseudogene immunoglobulin pseudogene Approved 15 not on reference assembly 15 not on reference assembly "IGKV1/OR-118|IGKV1/OR15-118" IGKVP2 "immunoglobulin kappa variable 1/OR15-118|immunoglobulin kappa variable 1/OR15-118 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2015-04-01 100312985 IGKV1/OR15-118 +HGNC:5772 IGKV1OR22-1 immunoglobulin kappa variable 1/OR22-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.1 22q11.1 IGKV1/OR22-1 IGKVP5 "immunoglobulin kappa variable 1/OR22-1|immunoglobulin kappa variable 1/OR22-1 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2016-10-05 3530 ENSG00000253481 OTTHUMG00000149996 Z00040 NG_011658 PGOHUM00000256995 IGKV1/OR22-1 HGNC:5772 +HGNC:5773 IGKV1OR22-5 immunoglobulin kappa variable 1/OR22-5 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11 22q11 "IGKV1/OR22-5|IGKV1/OR22-5A" "IGKVP7|IGKV1OR22-5A" "immunoglobulin kappa variable 1/OR22-5|immunoglobulin kappa variable 1/OR22-5 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2013-12-06 28850 ENSG00000230481 OTTHUMG00000147349 Z00003 6087279 PGOHUM00000264476 IGKV1/OR22-5 +HGNC:37729 IGKV1ORY-1 immunoglobulin kappa variable 1/ORY-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved Yq11.21 Yq11.21 IGKV1/ORY-1 immunoglobulin kappa variable 1/ORY-1 pseudogene Immunoglobulin kappa (IGK) orphons 352 2010-02-10 2011-04-15 2013-02-18 439957 NG_065960 PGOHUM00000233742 IGKV1/ORY-1 HGNC:37729 +HGNC:5788 IGKV2-4 immunoglobulin kappa variable 2-4 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2-4|immunoglobulin kappa variable 2-4 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28929 ENSG00000253435 OTTHUMG00000151536 X72814 NG_000834 PGOHUM00000250432 IGKV2-4 HGNC:5788 +HGNC:5776 IGKV2-10 immunoglobulin kappa variable 2-10 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2-10|immunoglobulin kappa variable 2-10 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-10-16 28928 ENSG00000253278 OTTHUMG00000151635 Z00012 NG_000834 PGOHUM00000261336 IGKV2-10 HGNC:5776 +HGNC:5777 IGKV2-14 immunoglobulin kappa variable 2-14 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2-14|immunoglobulin kappa variable 2-14 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-10-16 28927 ENSG00000253265 OTTHUMG00000151642 X72810 NG_000834 PGOHUM00000261337 IGKV2-14 HGNC:5777 +HGNC:5778 IGKV2-18 immunoglobulin kappa variable 2-18 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2-18|immunoglobulin kappa variable 2-18 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2014-11-19 28926 ENSG00000254157 OTTHUMG00000151644 X63400 NG_000834 PGOHUM00000240151 IGKV2-18 HGNC:5778 +HGNC:5779 IGKV2-19 immunoglobulin kappa variable 2-19 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2-19|immunoglobulin kappa variable 2-19 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28925 ENSG00000253732 OTTHUMG00000151651 X12692 NG_000834 PGOHUM00000250435 IGKV2-19 HGNC:5779 +HGNC:5780 IGKV2-23 immunoglobulin kappa variable 2-23 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2-23|immunoglobulin kappa variable 2-23 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28924 ENSG00000253625 OTTHUMG00000151638 X71885 NG_000834 PGOHUM00000240155 IGKV2-23 HGNC:5780 +HGNC:5781 IGKV2-24 immunoglobulin kappa variable 2-24 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2014-11-19 28923 ENSG00000241294 OTTHUMG00000151655 uc061lqw.1 X12684 NG_000834 A0A0C4DH68 IGKV2-24 HGNC:5781 +HGNC:5782 IGKV2-26 immunoglobulin kappa variable 2-26 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2-26|immunoglobulin kappa variable 2-26 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28922 ENSG00000254098 OTTHUMG00000151648 X71884 NG_000834 PGOHUM00000240158 IGKV2-26 HGNC:5782 +HGNC:5783 IGKV2-28 immunoglobulin kappa variable 2-28 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28921 ENSG00000244116 OTTHUMG00000151652 uc061lqy.1 X63397 NG_000834 A0A075B6P5 MGI:4439721 IGKV2-28 HGNC:5783 +HGNC:5784 IGKV2-29 immunoglobulin kappa variable 2-29 other immunoglobulin gene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 2-29 (gene/pseudogene) Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2020-05-01 2020-05-01 28920 ENSG00000253998 OTTHUMG00000151641 X63396 NG_000834 A2NJV5 PGOHUM00000240161 IGKV2-29 HGNC:5784 +HGNC:5785 IGKV2-30 immunoglobulin kappa variable 2-30 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28919 ENSG00000243238 OTTHUMG00000151692 uc061lqz.1 X63403 NG_000834 P06310 IGKV2-30 HGNC:5785 +HGNC:5786 IGKV2-36 immunoglobulin kappa variable 2-36 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2-36|immunoglobulin kappa variable 2-36 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28918 ENSG00000253487 OTTHUMG00000151683 X71889 NG_000834 PGOHUM00000250438 IGKV2-36 HGNC:5786 +HGNC:5787 IGKV2-38 immunoglobulin kappa variable 2-38 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2-38|immunoglobulin kappa variable 2-38 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28917 ENSG00000253592 OTTHUMG00000151685 X71888 NG_000834 PGOHUM00000240169 IGKV2-38 HGNC:5787 +HGNC:5789 IGKV2-40 immunoglobulin kappa variable 2-40 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2015-02-02 28916 ENSG00000273962 OTTHUMG00000188265 uc061lrf.1 X59314 NG_000834 A0A087WW87 IGKV2-40 HGNC:5789 +HGNC:5792 IGKV2D-10 immunoglobulin kappa variable 2D-10 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2D-10|immunoglobulin kappa variable 2D-10 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-10-16 28890 ENSG00000253906 OTTHUMG00000151567 X17265 NG_000833 PGOHUM00000261361 IGKV2D-10 HGNC:5792 +HGNC:5793 IGKV2D-14 immunoglobulin kappa variable 2D-14 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2D-14|immunoglobulin kappa variable 2D-14 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-10-16 28889 ENSG00000254292 OTTHUMG00000151565 X72811 NG_000833 PGOHUM00000261360 IGKV2D-14 HGNC:5793 +HGNC:5794 IGKV2D-18 immunoglobulin kappa variable 2D-18 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2D-18|immunoglobulin kappa variable 2D-18 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28888 ENSG00000254220 OTTHUMG00000151620 X63395 NG_000833 PGOHUM00000240750 IGKV2D-18 HGNC:5794 +HGNC:5795 IGKV2D-19 immunoglobulin kappa variable 2D-19 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2D-19|immunoglobulin kappa variable 2D-19 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28887 ENSG00000253765 OTTHUMG00000151617 X71882 NG_000833 PGOHUM00000240749 IGKV2D-19 HGNC:5795 +HGNC:5796 IGKV2D-23 immunoglobulin kappa variable 2D-23 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2D-23|immunoglobulin kappa variable 2D-23 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28886 ENSG00000254345 OTTHUMG00000151605 X71887 NG_000833 PGOHUM00000240745 IGKV2D-23 HGNC:5796 +HGNC:5797 IGKV2D-24 immunoglobulin kappa variable 2D-24 (non-functional) other immunoglobulin gene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 2D-24 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2008-09-10 2012-02-08 28885 ENSG00000241566 OTTHUMG00000151618 uc061lrs.1 X63401 NG_000833 A0A075B6R9 IGKV2D-24 HGNC:5797 +HGNC:5798 IGKV2D-26 immunoglobulin kappa variable 2D-26 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28884 ENSG00000211623 OTTHUMG00000151606 uc061lrr.1 X12689 NG_000833 A0A0A0MRZ7 IGKV2D-26 HGNC:5798 +HGNC:5799 IGKV2D-28 immunoglobulin kappa variable 2D-28 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28883 ENSG00000242534 OTTHUMG00000151616 uc061lrp.1 X12691 NG_000833 P01615 MGI:4439721 IGKV2D-28 HGNC:5799 +HGNC:5800 IGKV2D-29 immunoglobulin kappa variable 2D-29 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28882 ENSG00000243264 OTTHUMG00000151619 uc061lro.1 M31952 NG_000833 A0A075B6S2 IGKV2D-29 HGNC:5800 +HGNC:5801 IGKV2D-30 immunoglobulin kappa variable 2D-30 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28881 ENSG00000239571 OTTHUMG00000151613 uc061lrn.1 X63402 NG_000833 A0A075B6S6 IGKV2D-30 HGNC:5801 +HGNC:5802 IGKV2D-36 immunoglobulin kappa variable 2D-36 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2D-36|immunoglobulin kappa variable 2D-36 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28880 ENSG00000253127 OTTHUMG00000151611 X71893 NG_000833 PGOHUM00000240730 IGKV2D-36 HGNC:5802 +HGNC:5803 IGKV2D-38 immunoglobulin kappa variable 2D-38 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 2D-38|immunoglobulin kappa variable 2D-38 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28879 ENSG00000254009 OTTHUMG00000159961 X71892 NG_000833 PGOHUM00000240729 IGKV2D-38 HGNC:5803 +HGNC:5804 IGKV2D-40 immunoglobulin kappa variable 2D-40 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28878 ENSG00000251039 OTTHUMG00000159963 uc061lrh.1 X59311 NG_000833 P01614 IGKV2D-40 HGNC:5804 +HGNC:5805 IGKV2OR2-1 immunoglobulin kappa variable 2/OR2-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 "IGKV2/OR2-1|IGKV2/OR2-1A" IGKV2OR2-1A "immunoglobulin kappa variable 2/OR2-1|immunoglobulin kappa variable 2/OR2-1 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2013-12-06 28861 ENSG00000270748 OTTHUMG00000155332 X05101 8011175 PGOHUM00000240804 IGKV2/OR2-1 +HGNC:5808 IGKV2OR2-2 immunoglobulin kappa variable 2/OR2-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV2/OR2-2 "immunoglobulin kappa variable 2/OR2-2|immunoglobulin kappa variable 2/OR2-2 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2013-12-13 28859 ENSG00000271402 OTTHUMG00000155326 X51884 NG_065958 2111145 PGOHUM00000240805 IGKV2/OR2-2 HGNC:5808 +HGNC:5809 IGKV2OR2-4 immunoglobulin kappa variable 2/OR2-4 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV2/OR2-4 "immunoglobulin kappa variable 2/OR2-4|immunoglobulin kappa variable 2/OR2-4 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2021-07-13 28858 X51883 2111145 IGKV2/OR2-4 +HGNC:5810 IGKV2OR2-7 immunoglobulin kappa variable 2/OR2-7 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV2/OR2-7 "immunoglobulin kappa variable 2/OR2-7|immunoglobulin kappa variable 2/OR2-7 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2015-08-26 652873 ENSG00000270450 OTTHUMG00000184523 X51881 NG_011671 PGOHUM00000298583 IGKV2/OR2-7 HGNC:5810 +HGNC:37489 IGKV2OR2-7D immunoglobulin kappa variable 2/OR2-7D (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV2/OR2-7D immunoglobulin kappa variable 2/OR2-7D pseudogene Immunoglobulin kappa (IGK) orphons 352 2009-11-04 2011-04-15 2015-08-26 100310869 ENSG00000271015 OTTHUMG00000184526 X51881 NG_033269 PGOHUM00000298038 IGKV2/OR2-7D HGNC:37489 +HGNC:5811 IGKV2OR2-8 immunoglobulin kappa variable 2/OR2-8 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV2/OR2-8 "immunoglobulin kappa variable 2/OR2-8|immunoglobulin kappa variable 2/OR2-8 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2020-04-20 100996600 ENSG00000278537 OTTHUMG00000188277 X51880 NG_011662 IGKV2/OR2-8 HGNC:5811 +HGNC:5806 IGKV2OR2-10 immunoglobulin kappa variable 2/OR2-10 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV2/OR2-10 "immunoglobulin kappa variable 2/OR2-10|immunoglobulin kappa variable 2/OR2-10 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2015-02-02 28855 ENSG00000276050 OTTHUMG00000188278 X51886 NG_011661 PGOHUM00000298037 IGKV2/OR2-10 HGNC:5806 +HGNC:5812 IGKV2OR22-3 immunoglobulin kappa variable 2/OR22-3 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.1 22q11.1 IGKV2/OR22-3 IGKVP4 "immunoglobulin kappa variable 2/OR22-3|immunoglobulin kappa variable 2/OR22-3 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2016-10-05 3529 ENSG00000253460 OTTHUMG00000149994 Z00041 NG_011670 PGOHUM00000246208 IGKV2/OR22-3 HGNC:5812 +HGNC:5813 IGKV2OR22-4 immunoglobulin kappa variable 2/OR22-4 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.1 22q11.1 IGKV2/OR22-4 IGKVP6 "immunoglobulin kappa variable 2/OR22-4|immunoglobulin kappa variable 2/OR22-4 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2016-10-05 28847 ENSG00000253691 OTTHUMG00000149991 M20707 NG_011660 PGOHUM00000246207 IGKV2/OR22-4 HGNC:5813 +HGNC:5821 IGKV3-7 immunoglobulin kappa variable 3-7 (non-functional) other immunoglobulin gene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 3-7 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2008-09-10 2012-02-08 28915 ENSG00000243063 OTTHUMG00000151636 uc061lqm.1 X02725 NG_000834 A0A075B6H7 IGKV3-7 HGNC:5821 +HGNC:5815 IGKV3-11 immunoglobulin kappa variable 3-11 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28914 ENSG00000241351 OTTHUMG00000151633 uc061lqp.1 X01668 NG_000834 P04433 IGKV3-11 HGNC:5815 +HGNC:5816 IGKV3-15 immunoglobulin kappa variable 3-15 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28913 ENSG00000244437 OTTHUMG00000151653 uc061lqr.1 M23090 NG_000834 P01624 MGI:1330821 IGKV3-15 HGNC:5816 +HGNC:5817 IGKV3-20 immunoglobulin kappa variable 3-20 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28912 ENSG00000239951 OTTHUMG00000151639 uc061lqu.1 X12686 NG_000834 P01619 MGI:1330821 IGKV3-20 HGNC:5817 +HGNC:5818 IGKV3-25 immunoglobulin kappa variable 3-25 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 3-25|immunoglobulin kappa variable 3-25 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28911 ENSG00000253202 OTTHUMG00000151645 X06583 NG_000834 IGKV3-25 HGNC:5818 +HGNC:5819 IGKV3-31 immunoglobulin kappa variable 3-31 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 3-31|immunoglobulin kappa variable 3-31 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28910 ENSG00000253158 OTTHUMG00000151688 X71883 NG_000834 PGOHUM00000240162 IGKV3-31 HGNC:5819 +HGNC:5820 IGKV3-34 immunoglobulin kappa variable 3-34 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 3-34|immunoglobulin kappa variable 3-34 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28909 ENSG00000253860 OTTHUMG00000151693 X71891 NG_000834 PGOHUM00000240164 IGKV3-34 HGNC:5820 +HGNC:5829 IGKV3D-7 immunoglobulin kappa variable 3D-7 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2015-01-20 28877 ENSG00000228325 OTTHUMG00000184555 uc061lsf.1 X72820 NG_000833 A0A0C4DH55 MGI:1330821 IGKV3D-7 HGNC:5829 +HGNC:5823 IGKV3D-11 immunoglobulin kappa variable 3D-11 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2014-11-19 28876 ENSG00000211632 OTTHUMG00000151563 uc032nuq.2 X17264 NG_000833 A0A0A0MRZ8 MGI:1330821 IGKV3D-11 HGNC:5823 +HGNC:5824 IGKV3D-15 immunoglobulin kappa variable 3D-15 other immunoglobulin gene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 3D-15 (gene/pseudogene) Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2020-05-01 2020-05-01 28875 ENSG00000224041 OTTHUMG00000151568 uc061lry.1 X72815 NG_000833 A0A087WSY6 MGI:1330821 IGKV3D-15 HGNC:5824 +HGNC:5825 IGKV3D-20 immunoglobulin kappa variable 3D-20 other immunoglobulin gene Approved 2p11.2 02p11.2 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-08 28874 ENSG00000211625 OTTHUMG00000151615 uc061lru.1 X12687 NG_000833 A0A0C4DH25 MGI:1330821 IGKV3D-20 HGNC:5825 +HGNC:5826 IGKV3D-25 immunoglobulin kappa variable 3D-25 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 3D-25|immunoglobulin kappa variable 3D-25 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28873 ENSG00000254097 OTTHUMG00000151609 X71886 NG_000833 PGOHUM00000257043 IGKV3D-25 HGNC:5826 +HGNC:5827 IGKV3D-31 immunoglobulin kappa variable 3D-31 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 3D-31|immunoglobulin kappa variable 3D-31 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28872 ENSG00000253999 OTTHUMG00000151612 X71896 NG_000833 PGOHUM00000240736 IGKV3D-31 HGNC:5827 +HGNC:5828 IGKV3D-34 immunoglobulin kappa variable 3D-34 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 3D-34|immunoglobulin kappa variable 3D-34 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-08 28871 ENSG00000253501 OTTHUMG00000151601 X71895 NG_000833 PGOHUM00000240733 IGKV3D-34 HGNC:5828 +HGNC:5832 IGKV3OR2-5 immunoglobulin kappa variable 3/OR2-5 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2q11.2 02q11.2 IGKV3/OR2-5 "immunoglobulin kappa variable 3/OR2-5|immunoglobulin kappa variable 3/OR2-5 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2013-12-13 28854 ENSG00000270252 OTTHUMG00000184519 X51882 PGOHUM00000250442 IGKV3/OR2-5 +HGNC:5830 IGKV3OR2-268 immunoglobulin kappa variable 3/OR2-268 (non-functional) other immunoglobulin gene Approved 2p12 02p12 "IGKV3/OR2-268|IGKV3/OR2-268A" "IGKV268|IGKV3OR2-268A" immunoglobulin kappa variable 3/OR2-268 Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2008-09-10 2013-12-06 3523 ENSG00000233999 OTTHUMG00000153256 uc021vkj.3 X74459 7959772 RGD:2318882 IGKV3/OR2-268 +HGNC:5833 IGKV3OR22-2 immunoglobulin kappa variable 3/OR22-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.1 22q11.1 IGKV3/OR22-2 IGKVP3 "immunoglobulin kappa variable 3/OR22-2|immunoglobulin kappa variable 3/OR22-2 pseudogene" Immunoglobulin kappa (IGK) orphons 352 2000-04-18 2011-04-15 2016-10-05 3527 ENSG00000254264 OTTHUMG00000149995 Z00042 NG_011767 PGOHUM00000246209 IGKV3/OR22-2 HGNC:5833 +HGNC:5834 IGKV4-1 immunoglobulin kappa variable 4-1 other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV41|B3" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2014-11-19 28908 ENSG00000211598 OTTHUMG00000151533 uc061lqi.1 Z00023 NG_000834 P06312 "MGI:3577282|MGI:4439867" RGD:11052049 IGKV4-1 HGNC:5834 +HGNC:5835 IGKV5-2 immunoglobulin kappa variable 5-2 other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV52|B2" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2012-02-10 28907 ENSG00000211599 OTTHUMG00000151535 uc061lqj.1 X02485 NG_000834 P06315 IGKV5-2 HGNC:5835 +HGNC:5836 IGKV6-21 immunoglobulin kappa variable 6-21 (non-functional) other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV621|A26" immunoglobulin kappa variable 6-21 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2008-09-10 2012-02-10 28906 ENSG00000211611 OTTHUMG00000151654 uc061lqv.1 X63399 NG_000834 A0A0C4DH24 MGI:3644595 IGKV6-21 HGNC:5836 +HGNC:5837 IGKV6D-21 immunoglobulin kappa variable 6D-21 (non-functional) other immunoglobulin gene Approved 2p11.2 02p11.2 "IGKV6D21|A10" immunoglobulin kappa variable 6D-21 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2008-09-10 2012-02-10 28870 ENSG00000225523 OTTHUMG00000151608 uc061lrt.1 X12683 NG_000833 A0A0A0MT36 MGI:3644595 IGKV6D-21 HGNC:5837 +HGNC:5838 IGKV6D-41 immunoglobulin kappa variable 6D-41 (non-functional) other immunoglobulin gene Approved 2p11.2 02p11.2 immunoglobulin kappa variable 6D-41 Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2008-09-10 2012-02-10 28869 ENSG00000211626 OTTHUMG00000151621 uc061lrv.1 X12688 NG_000833 A0A0C4DH26 RGD:2319042 IGKV6D-41 HGNC:5838 +HGNC:5839 IGKV7-3 immunoglobulin kappa variable 7-3 (pseudogene) pseudogene immunoglobulin pseudogene Approved 2p11.2 02p11.2 "immunoglobulin kappa variable 7-3|immunoglobulin kappa variable 7-3 pseudogene" Immunoglobulin kappa locus at 2p11.2 351 2000-04-18 2011-04-15 2012-02-09 28905 ENSG00000197794 OTTHUMG00000151534 X12682 NG_000834 PGOHUM00000240142 IGKV7-3 HGNC:5839 +HGNC:5853 IGL immunoglobulin lambda locus protein-coding gene gene with protein product Approved 22q11.2 22q11.2 IGL@ Immunoglobulin lambda locus at 22q11.2 353 1991-09-12 2013-03-05 2013-03-05 3535 NG_000002 "3923432|6795508" HGNC:5853 +HGNC:5855 IGLC1 immunoglobulin lambda constant 1 other immunoglobulin gene Approved 22q11.22 22q11.22 IGLC immunoglobulin lambda constant 1 (Mcg marker) Immunoglobulin lambda locus at 22q11.2 353 2001-06-22 2016-06-13 2016-10-05 3537 ENSG00000211675 OTTHUMG00000151218 uc062cdy.1 J00252 NG_000002 P0CG04 IMGT; the international ImMunoGeneTics information system ®|http://www.imgt.org 147220 IGLC1 HGNC:5855 +HGNC:5856 IGLC2 immunoglobulin lambda constant 2 other immunoglobulin gene Approved 22q11.22 22q11.22 IGLC immunoglobulin lambda constant 2 (Kern-Oz- marker) Immunoglobulin lambda locus at 22q11.2 353 1989-05-29 2016-06-13 2016-10-05 3538 ENSG00000211677 OTTHUMG00000151214 uc062cea.1 J00253 NG_000002 P0DOY2 IGLC2 HGNC:5856 +HGNC:5857 IGLC3 immunoglobulin lambda constant 3 (Kern-Oz+ marker) other immunoglobulin gene Approved 22q11.22 22q11.22 IGLC Immunoglobulin lambda locus at 22q11.2 353 1989-05-29 2016-10-05 3539 ENSG00000211679 OTTHUMG00000151217 uc062cec.1 J00254 NG_000002 P0DOY3 MGI:96529 IGLC3 HGNC:5857 +HGNC:5858 IGLC4 immunoglobulin lambda constant 4 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLC "immunoglobulin lambda constant 4|immunoglobulin lambda constant 4 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 1989-05-29 2011-04-15 2016-10-05 3540 ENSG00000254029 OTTHUMG00000151180 J03009 NG_000002 PGOHUM00000246517 IGLC4 HGNC:5858 +HGNC:5859 IGLC5 immunoglobulin lambda constant 5 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLC "immunoglobulin lambda constant 5|immunoglobulin lambda constant 5 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 1989-05-29 2011-04-15 2016-10-05 3541 ENSG00000254030 OTTHUMG00000151176 J03010 NG_000002 PGOHUM00000246519 IGLC5 HGNC:5859 +HGNC:5860 IGLC6 immunoglobulin lambda constant 6 other immunoglobulin gene Approved 22q11.22 22q11.22 IGLC "immunoglobulin lambda constant 6 (Kern+Oz- marker)|immunoglobulin lambda constant 6 (gene/pseudogene)" Immunoglobulin lambda locus at 22q11.2 353 1986-01-01 2020-05-01 2020-05-01 3542 ENSG00000222037 OTTHUMG00000151165 J03011 NG_000002 P0CF74 IGLC6 HGNC:5860 +HGNC:5861 IGLC7 immunoglobulin lambda constant 7 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28834 ENSG00000211685 OTTHUMG00000151017 uc062ceh.1 X51755 NG_000002 A0M8Q6 RGD:2319568 IGLC7 HGNC:5861 +HGNC:15696 IGLCOR22-1 immunoglobulin lambda constant/OR22-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q12.2-q12.3 22q12.2-q12.3 IGLC/OR22-1 "immunoglobulin lambda constant/OR22-1|immunoglobulin lambda constant/OR22-1 pseudogene" Immunoglobulin lambda (IGL) orphons 354 2001-05-15 2011-04-15 2013-12-13 84096 ENSG00000254127 OTTHUMG00000030375 AL008723 PGOHUM00000246569 IGLC/OR22-1 +HGNC:15697 IGLCOR22-2 immunoglobulin lambda constant/OR22-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q12.2-q12.3 22q12.2-q12.3 IGLC/OR22-2 "immunoglobulin lambda constant/OR22-2|immunoglobulin lambda constant/OR22-2 pseudogene" Immunoglobulin lambda (IGL) orphons 354 2001-05-15 2011-04-15 2013-12-13 84086 ENSG00000271093 OTTHUMG00000184769 AL021937 NG_065959 PGOHUM00000246316 IGLC/OR22-2 HGNC:15697 +HGNC:5863 IGLJ1 immunoglobulin lambda joining 1 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28833 ENSG00000211674 OTTHUMG00000151225 uc062cdx.1 X04457 NG_000002 A0A0A0MT76 IGLJ1 HGNC:5863 +HGNC:5864 IGLJ2 immunoglobulin lambda joining 2 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28832 ENSG00000211676 OTTHUMG00000151243 uc062cdz.1 M15641 NG_000002 IGLJ2 HGNC:5864 +HGNC:5865 IGLJ3 immunoglobulin lambda joining 3 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28831 ENSG00000211678 OTTHUMG00000151220 uc062ceb.1 M15642 NG_000002 IGLJ3 HGNC:5865 +HGNC:5866 IGLJ4 immunoglobulin lambda joining 4 (non-functional) other immunoglobulin gene Approved 22q11.22 22q11.22 immunoglobulin lambda joining 4 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2008-09-15 2016-10-05 28830 ENSG00000211680 OTTHUMG00000151184 uc062ced.1 X51755 NG_000002 IGLJ4 HGNC:5866 +HGNC:5867 IGLJ5 immunoglobulin lambda joining 5 (non-functional) other immunoglobulin gene Approved 22q11.22 22q11.22 immunoglobulin lambda joining 5 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2008-09-15 2016-10-05 28829 ENSG00000211681 OTTHUMG00000151170 uc062cee.1 X51755 NG_000002 IGLJ5 HGNC:5867 +HGNC:5868 IGLJ6 immunoglobulin lambda joining 6 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28828 ENSG00000211682 OTTHUMG00000151181 uc062cef.1 M18338 NG_000002 IGLJ6 HGNC:5868 +HGNC:5869 IGLJ7 immunoglobulin lambda joining 7 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28827 ENSG00000211684 OTTHUMG00000151167 uc062ceg.1 X51755 NG_000002 IGLJ7 HGNC:5869 +HGNC:28614 IGLJCOR18 immunoglobulin lambda joining-constant/OR18 (pseudogene) pseudogene immunoglobulin pseudogene Approved 18p11.31 18p11.31 "IGLJ-COR18|IGLJ-C/OR18" "immunoglobulin lambda joining-constant/OR18|immunoglobulin lambda joining-constant/OR18 pseudogene" Immunoglobulin lambda (IGL) orphons 354 2004-12-15 2011-04-15 2013-12-06 204777 ENSG00000265243 OTTHUMG00000178366 J00255 XM_497569 6801526 PGOHUM00000234973 IGLJ-C/OR18 HGNC:28614 +HGNC:5870 IGLL1 immunoglobulin lambda like polypeptide 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "IGVPB|IGL5|14.1|CD179B" lambda 5 IGLL immunoglobulin lambda-like polypeptide 1 "CD molecules|C1-set domain containing" "471|591" 1991-09-12 2016-01-20 2021-04-13 3543 ENSG00000128322 OTTHUMG00000150673 uc002zxd.4 X52204 NM_020070 "CCDS13809|CCDS13810" P15814 "3139558|2511029" MGI:96529 "IGLL1base: Mutation registry for λ 5 surrogate light-chain deficiency|http://structure.bmc.lu.se/idbase/IGLL1base/|LRG_69|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_69.xml" 146770 122598 CD179B HGNC:5870 "ENST00000330377.3|NM_020070.4" HGNC:5870 +HGNC:5871 IGLL2P immunoglobulin lambda like polypeptide 2, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 "FLAMBDA1|16.2|IGLL1P" IGLL2 "immunoglobulin lambda-like polypeptide 2|immunoglobulin lambda-like polypeptide 2 pseudogene|immunoglobulin lambda-like polypeptide 2, pseudogene" 1993-03-22 2010-10-26 2016-01-20 2016-01-20 3544 L02326 NG_016464 "8406611|3003227" +HGNC:5872 IGLL3P immunoglobulin lambda like polypeptide 3, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 16.1 IGLL3 "immunoglobulin lambda-like polypeptide 3|immunoglobulin lambda-like polypeptide 3, pseudogene" 1993-03-22 2010-10-26 2016-01-20 2016-01-20 91353 ENSG00000206066 OTTHUMG00000150866 X03529 NR_029395 8406611 HGNC:5872 +HGNC:38475 IGLL4P immunoglobulin lambda like polypeptide 4, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 IGLL4 "immunoglobulin lambda-like polypeptide 4 pseudogene|immunoglobulin lambda-like polypeptide 4, pseudogene" 2010-05-07 2010-10-26 2016-01-20 2016-08-22 100287528 ENSG00000276427 OTTHUMG00000188038 X04458 NG_021207 PGOHUM00000297639 HGNC:38475 +HGNC:38476 IGLL5 immunoglobulin lambda like polypeptide 5 protein-coding gene gene with protein product Approved 22q11.22 22q11.22 immunoglobulin lambda-like polypeptide 5 C1-set domain containing 591 2010-05-07 2016-01-20 2016-01-20 100423062 ENSG00000254709 OTTHUMG00000165670 uc011aiw.3 "M34518|M34515" NM_001178126 CCDS54506 B9A064 MGI:96529 RGD:2321140 HGNC:38476 "ENST00000526893.6|NM_001178126.2" +HGNC:34550 IGLON5 IgLON family member 5 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 LOC402665 "V-set domain containing|IgLON cell adhesion molecules" "590|1052" 2009-01-08 2015-08-10 402665 ENSG00000142549 OTTHUMG00000154422 uc002pwc.3 NM_001101372 CCDS46158 A6NGN9 MGI:2686277 RGD:1305344 618861 HGNC:34550 "ENST00000270642.9|NM_001101372.3" +HGNC:5876 IGLV1-36 immunoglobulin lambda variable 1-36 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28826 ENSG00000211655 OTTHUMG00000151074 uc062cbx.1 Z73653 NG_000002 A0A0B4J1U3 IGLV1-36 HGNC:5876 +HGNC:5877 IGLV1-40 immunoglobulin lambda variable 1-40 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28825 ENSG00000211653 OTTHUMG00000151072 uc062cbv.1 M94116 NG_000002 P01703 IGLV1-40 HGNC:5877 +HGNC:5878 IGLV1-41 immunoglobulin lambda variable 1-41 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 1-41|immunoglobulin lambda variable 1-41 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28824 ENSG00000253818 OTTHUMG00000151056 M94118 NG_000002 PGOHUM00000246468 IGLV1-41 HGNC:5878 +HGNC:5879 IGLV1-44 immunoglobulin lambda variable 1-44 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28823 ENSG00000211651 OTTHUMG00000151050 uc062cbt.1 Z73654 NG_000002 P01699 IGLV1-44 HGNC:5879 +HGNC:5880 IGLV1-47 immunoglobulin lambda variable 1-47 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28822 ENSG00000211648 OTTHUMG00000151048 uc062cbq.1 Z73663 NG_000002 P01700 IGLV1-47 HGNC:5880 +HGNC:5881 IGLV1-50 immunoglobulin lambda variable 1-50 (non-functional) other immunoglobulin gene Approved 22q11.22 22q11.22 immunoglobulin lambda variable 1-50 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2008-09-15 2016-10-05 28821 ENSG00000211645 OTTHUMG00000151051 uc062cbn.1 M94112 NG_000002 A0A075B6I6 IGLV1-50 HGNC:5881 +HGNC:5882 IGLV1-51 immunoglobulin lambda variable 1-51 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28820 ENSG00000211644 OTTHUMG00000151035 uc062cbm.1 Z73661 NG_000002 P01701 IGLV1-51 HGNC:5882 +HGNC:5883 IGLV1-62 immunoglobulin lambda variable 1-62 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 1-62|immunoglobulin lambda variable 1-62 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28819 ENSG00000253823 OTTHUMG00000150848 D87022 NG_000002 PGOHUM00000246438 IGLV1-62 HGNC:5883 +HGNC:5894 IGLV2-5 immunoglobulin lambda variable 2-5 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 2-5|immunoglobulin lambda variable 2-5 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28818 ENSG00000253234 OTTHUMG00000151216 Z73641 NG_000002 PGOHUM00000246513 IGLV2-5 HGNC:5894 +HGNC:5895 IGLV2-8 immunoglobulin lambda variable 2-8 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2015-02-02 28817 ENSG00000278196 OTTHUMG00000151240 uc021wmp.2 X97462 NG_000002 P01709 IGLV2-8 HGNC:5895 +HGNC:5887 IGLV2-11 immunoglobulin lambda variable 2-11 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28816 ENSG00000211668 OTTHUMG00000151236 uc062cdg.1 Z73657 NG_000002 P01706 IGLV2-11 HGNC:5887 +HGNC:5888 IGLV2-14 immunoglobulin lambda variable 2-14 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28815 ENSG00000211666 OTTHUMG00000151235 uc062cdd.1 Z73664 NG_000002 P01704 MGI:96529 IGLV2-14 HGNC:5888 +HGNC:5889 IGLV2-18 immunoglobulin lambda variable 2-18 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28814 ENSG00000211664 OTTHUMG00000151232 uc062ccz.1 Z73642 NG_000002 A0A075B6J9 IGLV2-18 HGNC:5889 +HGNC:5890 IGLV2-23 immunoglobulin lambda variable 2-23 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28813 ENSG00000211660 OTTHUMG00000151234 uc062cct.1 X14616 NG_000002 P01705 IGLV2-23 HGNC:5890 +HGNC:5891 IGLV2-28 immunoglobulin lambda variable 2-28 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 2-28|immunoglobulin lambda variable 2-28 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28812 ENSG00000253451 OTTHUMG00000151183 X97466 NG_000002 PGOHUM00000246485 IGLV2-28 HGNC:5891 +HGNC:5892 IGLV2-33 immunoglobulin lambda variable 2-33 (non-functional) other immunoglobulin gene Approved 22q11.22 22q11.22 immunoglobulin lambda variable 2-33 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2008-09-15 2016-10-05 28811 ENSG00000211656 OTTHUMG00000151178 uc062ccj.1 Z73643 NG_000002 A0A075B6J2 IGLV2-33 HGNC:5892 +HGNC:5893 IGLV2-34 immunoglobulin lambda variable 2-34 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 2-34|immunoglobulin lambda variable 2-34 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28810 ENSG00000253120 OTTHUMG00000151174 D87013 NG_000002 PGOHUM00000246477 IGLV2-34 HGNC:5893 +HGNC:5896 IGLV3-1 immunoglobulin lambda variable 3-1 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28809 ENSG00000211673 OTTHUMG00000151224 uc062cdo.1 X57826 NG_000002 P01715 IGLV3-1 HGNC:5896 +HGNC:5904 IGLV3-2 immunoglobulin lambda variable 3-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-2|immunoglobulin lambda variable 3-2 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28808 ENSG00000253963 OTTHUMG00000151212 X97468 NG_000002 IGLV3-2 HGNC:5904 +HGNC:5915 IGLV3-4 immunoglobulin lambda variable 3-4 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-4|immunoglobulin lambda variable 3-4 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28807 ENSG00000226420 OTTHUMG00000151238 D87024 NG_000002 PGOHUM00000246514 IGLV3-4 HGNC:5915 +HGNC:5916 IGLV3-6 immunoglobulin lambda variable 3-6 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-6|immunoglobulin lambda variable 3-6 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28806 ENSG00000253448 OTTHUMG00000151222 X97465 NG_000002 PGOHUM00000246512 IGLV3-6 HGNC:5916 +HGNC:5917 IGLV3-7 immunoglobulin lambda variable 3-7 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-7|immunoglobulin lambda variable 3-7 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28805 ENSG00000254077 OTTHUMG00000151208 X97470 NG_000002 PGOHUM00000246511 IGLV3-7 HGNC:5917 +HGNC:5918 IGLV3-9 immunoglobulin lambda variable 3-9 other immunoglobulin gene Approved 22q11.22 22q11.22 immunoglobulin lambda variable 3-9 (gene/pseudogene) Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2020-05-01 2020-05-01 28804 ENSG00000211670 OTTHUMG00000151239 uc062cdi.1 X97473 NG_000002 A0A075B6K5 IGLV3-9 HGNC:5918 +HGNC:5897 IGLV3-10 immunoglobulin lambda variable 3-10 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28803 ENSG00000211669 OTTHUMG00000151237 uc062cdh.1 X97464 NG_000002 A0A075B6K4 IGLV3-10 HGNC:5897 +HGNC:5898 IGLV3-12 immunoglobulin lambda variable 3-12 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28802 ENSG00000211667 OTTHUMG00000151233 uc062cde.1 Z73658 NG_000002 A0A075B6K2 IGLV3-12 HGNC:5898 +HGNC:5899 IGLV3-13 immunoglobulin lambda variable 3-13 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-13|immunoglobulin lambda variable 3-13 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28801 ENSG00000253590 OTTHUMG00000151215 X97463 NG_000002 IGLV3-13 HGNC:5899 +HGNC:5900 IGLV3-15 immunoglobulin lambda variable 3-15 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-15|immunoglobulin lambda variable 3-15 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28800 ENSG00000253786 OTTHUMG00000151210 D87015 NG_000002 PGOHUM00000246499 IGLV3-15 HGNC:5900 +HGNC:5901 IGLV3-16 immunoglobulin lambda variable 3-16 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28799 ENSG00000211665 OTTHUMG00000151231 uc062cdb.1 X97471 NG_000002 A0A075B6K0 IGLV3-16 HGNC:5901 +HGNC:5902 IGLV3-17 immunoglobulin lambda variable 3-17 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-17|immunoglobulin lambda variable 3-17 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28798 ENSG00000253152 OTTHUMG00000151227 X97472 NG_000002 PGOHUM00000246496 IGLV3-17 HGNC:5902 +HGNC:5903 IGLV3-19 immunoglobulin lambda variable 3-19 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28797 ENSG00000211663 OTTHUMG00000151226 uc062ccx.1 X56178 NG_000002 P01714 IGLV3-19 HGNC:5903 +HGNC:5905 IGLV3-21 immunoglobulin lambda variable 3-21 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28796 ENSG00000211662 OTTHUMG00000151213 uc062ccw.1 X71966 NG_000002 P80748 IGLV3-21 HGNC:5905 +HGNC:5906 IGLV3-22 immunoglobulin lambda variable 3-22 other immunoglobulin gene Approved 22q11.22 22q11.22 immunoglobulin lambda variable 3-22 (gene/pseudogene) Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2020-05-01 2020-05-01 28795 ENSG00000211661 OTTHUMG00000151229 uc062ccv.1 Z73666 NG_000002 A0A075B6J6 IGLV3-22 HGNC:5906 +HGNC:5907 IGLV3-24 immunoglobulin lambda variable 3-24 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-24|immunoglobulin lambda variable 3-24 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28794 ENSG00000253822 OTTHUMG00000151230 X71968 NG_000002 PGOHUM00000246490 IGLV3-24 HGNC:5907 +HGNC:5908 IGLV3-25 immunoglobulin lambda variable 3-25 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28793 ENSG00000211659 OTTHUMG00000151221 uc062ccr.1 X97474 NG_000002 P01717 IGLV3-25 HGNC:5908 +HGNC:5909 IGLV3-26 immunoglobulin lambda variable 3-26 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-26|immunoglobulin lambda variable 3-26 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28792 ENSG00000253913 OTTHUMG00000151211 X97467 NG_000002 PGOHUM00000246487 IGLV3-26 HGNC:5909 +HGNC:5910 IGLV3-27 immunoglobulin lambda variable 3-27 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28791 ENSG00000211658 OTTHUMG00000151171 uc062ccq.1 D86994 NG_000002 P01718 IGLV3-27 HGNC:5910 +HGNC:5911 IGLV3-29 immunoglobulin lambda variable 3-29 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 immunoglobulin lambda variable 3-29 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2008-09-15 2016-10-05 28790 ENSG00000253338 OTTHUMG00000151168 Z73644 NG_000002 PGOHUM00000246484 IGLV3-29 HGNC:5911 +HGNC:5912 IGLV3-30 immunoglobulin lambda variable 3-30 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-30|immunoglobulin lambda variable 3-30 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28789 ENSG00000253329 OTTHUMG00000151182 Z73646 NG_000002 PGOHUM00000246481 IGLV3-30 HGNC:5912 +HGNC:5913 IGLV3-31 immunoglobulin lambda variable 3-31 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 3-31|immunoglobulin lambda variable 3-31 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28788 ENSG00000253920 OTTHUMG00000151179 X97469 NG_000002 PGOHUM00000246480 IGLV3-31 HGNC:5913 +HGNC:5914 IGLV3-32 immunoglobulin lambda variable 3-32 (non-functional) other immunoglobulin gene Approved 22q11.22 22q11.22 immunoglobulin lambda variable 3-32 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2008-09-15 2016-10-05 28787 ENSG00000211657 OTTHUMG00000151166 uc062cck.1 Z73645 NG_000002 A0A0A0MS00 IGLV3-32 HGNC:5914 +HGNC:5919 IGLV4-3 immunoglobulin lambda variable 4-3 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28786 ENSG00000211672 OTTHUMG00000151244 uc062cdn.1 X57828 NG_000002 A0A075B6K6 IGLV4-3 HGNC:5919 +HGNC:5920 IGLV4-60 immunoglobulin lambda variable 4-60 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28785 ENSG00000211639 OTTHUMG00000150851 uc062cbd.1 Z73667 NG_000002 A0A075B6I1 IGLV4-60 HGNC:5920 +HGNC:5921 IGLV4-69 immunoglobulin lambda variable 4-69 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28784 ENSG00000211637 OTTHUMG00000150857 uc062cba.1 Z73648 NG_000002 A0A075B6H9 IGLV4-69 HGNC:5921 +HGNC:5922 IGLV5-37 immunoglobulin lambda variable 5-37 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28783 ENSG00000211654 OTTHUMG00000151069 uc062cbw.1 Z73672 NG_000002 A0A075B6J1 IGLV5-37 HGNC:5922 +HGNC:5923 IGLV5-39 immunoglobulin lambda variable 5-39 other immunoglobulin gene Approved 22q11.2 alternate reference locus 22q11.2 alternate reference locus Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2015-02-27 28782 "Z73668|KI270875" A0A0G2JS06 IGLV5-39 +HGNC:5924 IGLV5-45 immunoglobulin lambda variable 5-45 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28781 ENSG00000211650 OTTHUMG00000151054 uc062cbs.1 Z73670 NG_000002 A0A087WSX0 IGLV5-45 HGNC:5924 +HGNC:5925 IGLV5-48 immunoglobulin lambda variable 5-48 (non-functional) other immunoglobulin gene Approved 22q11.22 22q11.22 immunoglobulin lambda variable 5-48 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2008-09-15 2016-10-05 28780 ENSG00000211647 OTTHUMG00000151041 uc062cbp.1 Z73649 NG_000002 A0A075B6I7 IGLV5-48 HGNC:5925 +HGNC:5926 IGLV5-52 immunoglobulin lambda variable 5-52 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28779 ENSG00000211643 OTTHUMG00000151049 uc062cbl.1 Z73669 NG_000002 A0A0A0MRZ9 IGLV5-52 HGNC:5926 +HGNC:5927 IGLV6-57 immunoglobulin lambda variable 6-57 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28778 ENSG00000211640 OTTHUMG00000150996 uc062cbe.1 Z73673 NG_000002 P01721 RGD:6484476 IGLV6-57 HGNC:5927 +HGNC:5928 IGLV7-35 immunoglobulin lambda variable 7-35 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 7-35|immunoglobulin lambda variable 7-35 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28777 ENSG00000253631 OTTHUMG00000151067 Z73660 NG_000002 PGOHUM00000246474 IGLV7-35 HGNC:5928 +HGNC:5929 IGLV7-43 immunoglobulin lambda variable 7-43 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28776 ENSG00000211652 OTTHUMG00000151053 uc062cbu.1 X14614 NG_000002 P04211 "MGI:96530|MGI:99548" IGLV7-43 HGNC:5929 +HGNC:5930 IGLV7-46 immunoglobulin lambda variable 7-46 other immunoglobulin gene Approved 22q11.22 22q11.22 immunoglobulin lambda variable 7-46 (gene/pseudogene) Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2020-05-01 2020-05-01 28775 ENSG00000211649 OTTHUMG00000151040 uc062cbr.1 Z73674 NG_000002 A0A075B6I9 "MGI:96530|MGI:99548" IGLV7-46 HGNC:5930 +HGNC:5931 IGLV8-61 immunoglobulin lambda variable 8-61 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28774 ENSG00000211638 OTTHUMG00000150844 uc062cbc.1 Z73650 NG_000002 A0A075B6I0 "MGI:96530|MGI:99548" IGLV8-61 HGNC:5931 +HGNC:5932 IGLV8OR8-1 immunoglobulin lambda variable 8/OR8-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 8q11.21 08q11.21 IGLV8/OR8-1 "immunoglobulin lambda variable 8/OR8-1|immunoglobulin lambda variable 8/OR8-1 pseudogene" Immunoglobulin lambda (IGL) orphons 354 2000-05-08 2011-04-15 2020-04-20 100996586 ENSG00000215177 OTTHUMG00000164149 Y08831 PGOHUM00000263883 IGLV8/OR8-1 HGNC:5932 +HGNC:5933 IGLV9-49 immunoglobulin lambda variable 9-49 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28773 ENSG00000223350 OTTHUMG00000151045 uc062cbo.1 Z73675 NG_000002 A0A0B4J1Y8 IGLV9-49 HGNC:5933 +HGNC:5884 IGLV10-54 immunoglobulin lambda variable 10-54 other immunoglobulin gene Approved 22q11.22 22q11.22 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2016-10-05 28772 ENSG00000211642 OTTHUMG00000150993 uc032qho.2 Z73676 NG_000002 A0A075B6I4 IGLV10-54 HGNC:5884 +HGNC:5885 IGLV10-67 immunoglobulin lambda variable 10-67 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 "immunoglobulin lambda variable 10-67|immunoglobulin lambda variable 10-67 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28771 ENSG00000253794 OTTHUMG00000150849 Z73651 NG_000002 PGOHUM00000246432 IGLV10-67 HGNC:5885 +HGNC:5886 IGLV11-55 immunoglobulin lambda variable 11-55 (non-functional) other immunoglobulin gene Approved 22q11.22 22q11.22 immunoglobulin lambda variable 11-55 Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2008-09-15 2016-10-05 28770 ENSG00000211641 OTTHUMG00000150995 uc062cbf.1 D86996 NG_000002 A0A075B6I3 IGLV11-55 HGNC:5886 +HGNC:5934 IGLVI-20 immunoglobulin lambda variable (I)-20 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(I)-20 "immunoglobulin lambda variable (I)-20|immunoglobulin lambda variable (I)-20 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28769 ENSG00000254240 OTTHUMG00000151242 D87007 NG_000002 PGOHUM00000246493 IGLV(I)-20 HGNC:5934 +HGNC:5935 IGLVI-38 immunoglobulin lambda variable (I)-38 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(I)-38 "immunoglobulin lambda variable (I)-38|immunoglobulin lambda variable (I)-38 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28768 ENSG00000253889 OTTHUMG00000151073 D87009 NG_000002 IGLV(I)-38 HGNC:5935 +HGNC:5936 IGLVI-42 immunoglobulin lambda variable (I)-42 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(I)-42 "immunoglobulin lambda variable (I)-42|immunoglobulin lambda variable (I)-42 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28767 ENSG00000254175 OTTHUMG00000151043 X14613 NG_000002 PGOHUM00000246466 IGLV(I)-42 HGNC:5936 +HGNC:5937 IGLVI-56 immunoglobulin lambda variable (I)-56 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(I)-56 "immunoglobulin lambda variable (I)-56|immunoglobulin lambda variable (I)-56 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28766 ENSG00000253126 OTTHUMG00000151583 D86996 NG_000002 PGOHUM00000246449 IGLV(I)-56 HGNC:5937 +HGNC:5938 IGLVI-63 immunoglobulin lambda variable (I)-63 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(I)-63 "immunoglobulin lambda variable (I)-63|immunoglobulin lambda variable (I)-63 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28765 ENSG00000253752 OTTHUMG00000150855 D87022 NG_000002 PGOHUM00000246437 IGLV(I)-63 HGNC:5938 +HGNC:5939 IGLVI-68 immunoglobulin lambda variable (I)-68 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(I)-68 "immunoglobulin lambda variable (I)-68|immunoglobulin lambda variable (I)-68 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28764 ENSG00000254355 OTTHUMG00000150853 D86993 NG_000002 PGOHUM00000246430 IGLV(I)-68 HGNC:5939 +HGNC:5940 IGLVI-70 immunoglobulin lambda variable (I)-70 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(I)-70 "immunoglobulin lambda variable (I)-70|immunoglobulin lambda variable (I)-70 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28763 ENSG00000253239 OTTHUMG00000150834 D86993 NG_000002 PGOHUM00000246428 IGLV(I)-70 HGNC:5940 +HGNC:5941 IGLVIV-53 immunoglobulin lambda variable (IV)-53 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(IV)-53 "immunoglobulin lambda variable (IV)-53|immunoglobulin lambda variable (IV)-53 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28762 ENSG00000253935 OTTHUMG00000151585 D86996 NG_000002 IGLV(IV)-53 HGNC:5941 +HGNC:5942 IGLVIV-59 immunoglobulin lambda variable (IV)-59 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(IV)-59 "immunoglobulin lambda variable (IV)-59|immunoglobulin lambda variable (IV)-59 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28761 ENSG00000254308 OTTHUMG00000150847 D87000 NG_000002 PGOHUM00000246445 IGLV(IV)-59 HGNC:5942 +HGNC:5943 IGLVIV-64 immunoglobulin lambda variable (IV)-64 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(IV)-64 "immunoglobulin lambda variable (IV)-64|immunoglobulin lambda variable (IV)-64 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28760 ENSG00000253242 OTTHUMG00000150852 D87022 NG_000002 PGOHUM00000246436 IGLV(IV)-64 HGNC:5943 +HGNC:5944 IGLVIV-65 immunoglobulin lambda variable (IV)-65 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(IV)-65 "immunoglobulin lambda variable (IV)-65|immunoglobulin lambda variable (IV)-65 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28759 ENSG00000254161 OTTHUMG00000150861 D87022 NG_000002 PGOHUM00000246435 IGLV(IV)-65 HGNC:5944 +HGNC:15692 IGLVIV-66-1 immunoglobulin lambda variable (IV)-66-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(IV)-66-1 "immunoglobulin lambda variable (IV)-66-1|immunoglobulin lambda variable (IV)-66-1 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2001-05-15 2011-04-15 2016-10-05 84097 ENSG00000253874 OTTHUMG00000150862 D87004 NG_000002 PGOHUM00000246433 IGLV(IV)-66-1 HGNC:15692 +HGNC:15694 IGLVIVOR22-1 immunoglobulin lambda variable (IV)/OR22-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.2-q12.1 22q11.2-q12.1 IGLV(IV)/OR22-1 "immunoglobulin lambda variable (IV)/OR22-1|immunoglobulin lambda variable (IV)/OR22-1 pseudogene" Immunoglobulin lambda (IGL) orphons 354 2001-05-15 2011-04-15 2013-12-13 84088 ENSG00000271138 OTTHUMG00000184784 AL008721 PGOHUM00000246297 IGLV(IV)/OR22-1 +HGNC:15695 IGLVIVOR22-2 immunoglobulin lambda variable (IV)/OR22-2 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q12.2-q12.3 22q12.2-q12.3 IGLV(IV)/OR22-2 "immunoglobulin lambda variable (IV)/OR22-2|immunoglobulin lambda variable (IV)/OR22-2 pseudogene" Immunoglobulin lambda (IGL) orphons 354 2001-05-15 2011-04-15 2013-12-13 84087 ENSG00000243519 OTTHUMG00000099456 AL021937 PGOHUM00000246573 IGLV(IV)/OR22-2 +HGNC:5945 IGLVV-58 immunoglobulin lambda variable (V)-58 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(V)-58 "immunoglobulin lambda variable (V)-58|immunoglobulin lambda variable (V)-58 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28758 ENSG00000253637 OTTHUMG00000150893 D87000 NG_000002 PGOHUM00000246446 IGLV(V)-58 HGNC:5945 +HGNC:5946 IGLVV-66 immunoglobulin lambda variable (V)-66 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(V)-66 "immunoglobulin lambda variable (V)-66|immunoglobulin lambda variable (V)-66 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2000-05-08 2011-04-15 2016-10-05 28757 ENSG00000254075 OTTHUMG00000151584 D87004 NG_000002 PGOHUM00000246434 IGLV(V)-66 HGNC:5946 +HGNC:15689 IGLVVI-22-1 immunoglobulin lambda variable (VI)-22-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(VI)-22-1 "immunoglobulin lambda variable (VI)-22-1|immunoglobulin lambda variable (VI)-22-1 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2001-05-15 2011-04-15 2016-10-05 84091 ENSG00000253546 OTTHUMG00000151219 X71351 NG_000002 IGLV(VI)-22-1 HGNC:15689 +HGNC:15690 IGLVVI-25-1 immunoglobulin lambda variable (VI)-25-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(VI)-25-1 "immunoglobulin lambda variable (VI)-25-1|immunoglobulin lambda variable (VI)-25-1 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2001-05-15 2011-04-15 2016-10-05 84090 ENSG00000253779 OTTHUMG00000151586 D86994 NG_000002 IGLV(VI)-25-1 HGNC:15690 +HGNC:15691 IGLVVII-41-1 immunoglobulin lambda variable (VII)-41-1 (pseudogene) pseudogene immunoglobulin pseudogene Approved 22q11.22 22q11.22 IGLV(VII)-41-1 "immunoglobulin lambda variable (VII)-41-1|immunoglobulin lambda variable (VII)-41-1 pseudogene" Immunoglobulin lambda locus at 22q11.2 353 2001-05-15 2011-04-15 2016-10-05 84089 ENSG00000254073 OTTHUMG00000151296 X99568 NG_000002 PGOHUM00000246467 IGLV(VII)-41-1 HGNC:15691 +HGNC:5948 IGSF1 immunoglobulin superfamily member 1 protein-coding gene gene with protein product Approved Xq25 Xq25 "KIAA0364|IGDC1|IGCD1|INHBP|MGC75490|PGSF2" immunoglobulin superfamily, member 1 Immunoglobulin like domain containing 594 1997-10-27 2015-11-18 2021-05-26 3547 ENSG00000147255 OTTHUMG00000022406 uc004ewd.5 AF034198 NM_001170961 "CCDS55491|CCDS14629|CCDS55490|CCDS14630" Q8N6C5 "9521868|9729118" MGI:2147913 RGD:631402 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGSF1|LRG_840|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_840.xml" 300137 330232 I43.951 HGNC:5948 "ENST00000361420.8|NM_001555.5" HGNC:5948 +HGNC:5950 IGSF3 immunoglobulin superfamily member 3 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "V8|EWI-3|MGC117164" immunoglobulin superfamily, member 3 V-set domain containing 590 1998-08-13 2015-11-18 2016-10-05 3321 ENSG00000143061 OTTHUMG00000022751 uc057jsm.1 AF031174 NM_001542 "CCDS30813|CCDS30814" O75054 9790749 MGI:1926158 RGD:1307796 603491 419348 HGNC:5950 "ENST00000369486.8|NM_001007237.3" HGNC:5950 +HGNC:55895 IGSF3P1 IGSF3 pseudogene 1 pseudogene pseudogene Approved 13q11 13q11 2021-09-30 2021-09-30 122965330 ENSG00000279124 PGOHUM00000291847 +HGNC:55896 IGSF3P2 IGSF3 pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2021-09-30 2021-09-30 100289350 ENSG00000223703 NG_021569 PGOHUM00000298539 +HGNC:5952 IGSF5 immunoglobulin superfamily member 5 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 JAM4 junctional adhesion molecule 4 immunoglobulin superfamily, member 5 "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 2000-05-23 2015-11-18 2015-11-18 150084 ENSG00000183067 OTTHUMG00000086724 uc002yyo.3 NM_001080444 CCDS33562 Q9NSI5 MGI:1919308 RGD:1359642 610638 HGNC:5952 "ENST00000380588.5|NM_001080444.2" +HGNC:5953 IGSF6 immunoglobulin superfamily member 6 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 DORA immunoglobulin superfamily, member 6 V-set domain containing 590 2000-06-05 2015-11-18 2015-11-18 10261 ENSG00000140749 OTTHUMG00000090709 uc002djg.3 AJ223183 NM_005849 CCDS10599 O95976 9809579 MGI:1891393 RGD:620663 606222 HGNC:5953 "ENST00000268389.6|NM_005849.4" +HGNC:17813 IGSF8 immunoglobulin superfamily member 8 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "CD81P3|EWI2|PGRL|CD316" immunoglobulin superfamily, member 8 "CD molecules|V-set domain containing" "471|590" 2002-01-08 2015-11-18 2016-10-05 93185 ENSG00000162729 OTTHUMG00000024075 uc009wtf.4 AF407274 NM_052868 CCDS1195 Q969P0 "11504738|11673522" MGI:2154090 RGD:1311500 606644 CD316 HGNC:17813 "ENST00000314485.12|NM_052868.6" +HGNC:18132 IGSF9 immunoglobulin superfamily member 9 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "KIAA1355|Nrt1|IGSF9A" turtle (Drosophila) homolog A immunoglobulin superfamily, member 9 "Fibronectin type III domain containing|I-set domain containing" "555|593" 2002-05-29 2015-11-18 2022-03-30 57549 ENSG00000085552 OTTHUMG00000022794 uc001fur.2 AB037776 NM_020789 "CCDS44254|CCDS1190" Q9P2J2 "11991715|11312296" MGI:2135283 RGD:1304566 609738 HGNC:18132 "ENST00000368094.6|NM_001135050.2" +HGNC:32326 IGSF9B immunoglobulin superfamily member 9B protein-coding gene gene with protein product Approved 11q25 11q25 "KIAA1030|LINC00947|LOC283174" turtle (Drosophila) homolog B MIR4697HG "immunoglobulin superfamily, member 9B|MIR4697 host gene|MIR4697 host gene (non-protein coding)" "Fibronectin type III domain containing|V-set domain containing|I-set domain containing" "555|590|593" 2005-10-12 2005-11-20 2015-11-18 2022-03-30 22997 ENSG00000080854 OTTHUMG00000167124 uc031qfh.2 AK097578 NM_001277285 CCDS61010 Q9UPX0 MGI:2685354 RGD:1564717 613773 HGNC:32326 "ENST00000533871.8|NM_001277285.4" +HGNC:26384 IGSF10 immunoglobulin superfamily member 10 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "FLJ25972|CMF608" immunoglobulin superfamily, member 10 "I-set domain containing|MicroRNA protein coding host genes" "593|1691" 2004-03-04 2015-11-18 2019-02-21 285313 ENSG00000152580 OTTHUMG00000159856 uc011bod.3 AY273815 NM_178822 CCDS3160 Q6WRI0 27137492 MGI:1923481 RGD:735030 617351 470494 HGNC:26384 "ENST00000282466.4|NM_178822.5" +HGNC:16669 IGSF11 immunoglobulin superfamily member 11 protein-coding gene gene with protein product Approved 3q13.32 03q13.32 "BT-IgSF|MGC35227|Igsf13|VSIG3|CT119" cancer/testis antigen 119 immunoglobulin superfamily, member 11 "I-set domain containing|IgCAM CXADR-related subfamily" "593|1414" 2002-12-04 2015-11-18 2016-10-05 152404 ENSG00000144847 OTTHUMG00000159387 uc010hqs.5 AB079879 NM_001015887 "CCDS87123|CCDS2983|CCDS46891|CCDS87125|CCDS87124" Q5DX21 12207903 MGI:2388477 RGD:1308758 608351 HGNC:16669 "ENST00000393775.7|NM_001015887.3" +HGNC:40777 IGSF11-AS1 IGSF11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.32 03q13.32 IGSF11 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100506765 ENSG00000239877 OTTHUMG00000159386 uc003eca.5 NR_046230 IGSF11-AS1 HGNC:40777 +HGNC:28246 IGSF21 immunoglobin superfamily member 21 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "MGC15730|RP11-121A23.1" immunoglobin superfamily, member 21 V-set domain containing 590 2005-07-21 2015-11-18 2019-02-21 84966 ENSG00000117154 OTTHUMG00000002432 uc001bau.3 AK075316 NM_032880 CCDS184 Q96ID5 28864826 MGI:2681842 RGD:1310117 HGNC:28246 "ENST00000251296.4|NM_032880.5" +HGNC:41190 IGSF21-AS1 IGSF21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Antisense RNAs 1987 2017-10-25 2017-10-25 105376814 ENSG00000230035 OTTHUMG00000002434 XR_001737917 HGNC:41190 +HGNC:26750 IGSF22 immunoglobulin superfamily member 22 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "FLJ37794|IGFN2" immunoglobulin superfamily, member 22 "Fibronectin type III domain containing|I-set domain containing" "555|593" 2005-10-28 2015-11-18 2016-04-25 283284 ENSG00000179057 OTTHUMG00000160502 uc009yht.3 AK095113 NM_173588 CCDS41625 Q8N9C0 RGD:11452860 HGNC:26750 "ENST00000513874.6|NM_173588.4" +HGNC:55511 IGSF22-AS1 IGSF22 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 Antisense RNAs 1987 2021-03-17 2021-03-17 120883618 ENSG00000254966 +HGNC:40040 IGSF23 immunoglobulin superfamily member 23 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 immunoglobulin superfamily, member 23 Immunoglobulin like domain containing 594 2011-05-06 2015-11-18 2015-11-18 147710 ENSG00000216588 OTTHUMG00000151531 uc021uvj.1 NM_001205280 CCDS54277 A1L1A6 MGI:1917330 RGD:1564357 HGNC:40040 "ENST00000402988.6|NM_001205280.2" +HGNC:5956 IHH Indian hedgehog signaling molecule protein-coding gene gene with protein product Approved 2q35 02q35 "HHG2|BDA1" Indian hedgehog (Drosophila) homolog "Hedgehog signaling molecule family|MicroRNA protein coding host genes" "1373|1691" 1995-03-21 2018-11-15 2021-05-26 3549 ENSG00000163501 OTTHUMG00000154631 uc002vjo.3 L38517 NM_002181 CCDS33380 Q14623 "7590746|14770182" MGI:96533 RGD:620021 600726 122605 C46.003 HGNC:5956 "ENST00000295731.7|NM_002181.4" HGNC:5956 +HGNC:27945 IHO1 interactor of HORMAD1 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ25320|CT74|LELA1" cancer/testis antigen 74 CCDC36 coiled-coil domain containing 36 2005-11-02 2020-03-06 2020-03-06 2020-03-06 339834 ENSG00000173421 OTTHUMG00000155920 uc003cwk.3 AK058049 NM_178173 CCDS33755 Q8IYA8 27723721 MGI:3612242 RGD:1596869 619190 HGNC:27945 "ENST00000452691.7|NM_001135197.2" +HGNC:5958 IK IK cytokine protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "RED|RER" IK cytokine, down-regulator of HLA II "Spliceosomal B complex|MicroRNA protein coding host genes" "1507|1691" 1996-06-12 2017-09-14 2017-09-14 3550 ENSG00000113141 OTTHUMG00000163374 uc003lgq.4 BC051295 NM_006083 CCDS47280 Q13123 7970704 MGI:1345142 RGD:1359352 600549 HGNC:5958 "ENST00000417647.7|NM_006083.4" +HGNC:26430 IKBIP IKBKB interacting protein protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FLJ31051|IKIP" I kappa B kinase interacting protein 2009-10-05 2014-11-19 121457 ENSG00000166130 OTTHUMG00000170213 uc001tfx.5 AJ539425 NM_153687 "CCDS41822|CCDS9068|CCDS9067" Q70UQ0 15389287 MGI:1914704 RGD:1305457 609861 HGNC:26430 "ENST00000299157.5|NM_153687.4" +HGNC:5960 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "IKK2|NFKBIKB|IKK-beta|IKKB" inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta "I kappa B kinases|IKK complex" "1802|1817" 1998-02-11 2016-12-21 2021-04-13 3551 ENSG00000104365 OTTHUMG00000164092 uc003xow.3 AF029684 NM_001190720 CCDS6128 O14920 "9878263|9763654|18308615" MGI:1338071 RGD:621375 LRG_1241|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1241.xml IKBKB 603258 401771 objectId:2039 HGNC:5960 "ENST00000520810.6|NM_001556.3" HGNC:5960 +HGNC:55254 IKBKB-DT IKBKB divergent transcript non-coding RNA RNA, long non-coding Approved 8p11.21 08p11.21 "RP11-231D20.2|ALAL-1" amplified lncRNA associated with lung cancer-1 Divergent transcripts 1990 2020-09-25 2021-09-27 101929897 ENSG00000253408 NR_125823 32858747 +HGNC:14552 IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "IKKE|IKK-i|KIAA0151" inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon "MicroRNA protein coding host genes|I kappa B kinases" "1691|1802" 2002-12-02 2017-01-13 2017-01-13 9641 ENSG00000263528 OTTHUMG00000184613 uc001hdz.3 AB016590 NM_001193321 "CCDS73019|CCDS30996|CCDS53464" Q14164 "10421793|10882136" MGI:1929612 RGD:1308352 605048 objectId:2040 HGNC:14552 "ENST00000581977.7|NM_014002.4" +HGNC:5961 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma protein-coding gene gene with protein product Approved Xq28 Xq28 "IKK-gamma|NEMO|Fip3p|FIP-3|FIP3|ZC2HC9|IKKAP1|IKKG" "NF-kappa-B essential modulator|IkB kinase-associated protein 1|I-kappa-B kinase subunit gamma|IkB kinase subunit gamma|14.7K (adenovirus E3 protein) interacting protein 3" "IP2|IP1" "incontinentia pigmenti|inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma|inhibitor of nuclear factor kappa B kinase subunit gamma" "Zinc fingers C2HC-type|IKK complex" "66|1817" 1998-09-30 2019-02-14 2021-09-15 8517 ENSG00000269335 OTTHUMG00000024234 uc033fbv.2 AF074382 NM_003639 "CCDS14757|CCDS83513|CCDS48197|CCDS48196" Q9Y6K9 "9751060|10087442|11590134|11242109" MGI:1338074 RGD:735223 "IKBKGbase: Mutation registry for Nemo deficiency|http://structure.bmc.lu.se/idbase/IKBKGbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IKBKG|LRG_70|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_70.xml" 300248 122614 HGNC:5961 "ENST00000594239.6|NM_001099857.5" HGNC:5961 +HGNC:24455 IKBKGP1 inhibitor of nuclear factor kappa B kinase subunit gamma pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 deltaNEMO Delta NEMO IKBKGP "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene|inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 1" 2007-07-23 2010-04-14 2017-01-13 2017-01-13 246210 ENSG00000275882 OTTHUMG00000188230 NG_001576 11709543 HGNC:24455 +HGNC:13176 IKZF1 IKAROS family zinc finger 1 protein-coding gene gene with protein product Approved 7p12.2 07p12.2 "hIk-1|LyF-1|Hs.54452|IKAROS|PPP1R92" protein phosphatase 1, regulatory subunit 92 ZNFN1A1 "zinc finger protein, subfamily 1A, 1 (Ikaros)|IKAROS family zinc finger 1 (Ikaros)" "Zinc fingers C2H2-type|Protein phosphatase 1 regulatory subunits" "28|694" 1999-08-23 2006-08-25 2015-11-12 2021-05-26 10320 ENSG00000185811 OTTHUMG00000155907 uc003tow.5 U40462 NM_006060 "CCDS87502|CCDS59055|CCDS69299|CCDS78233|CCDS75597|CCDS75596|CCDS78232" Q13422 "1439790|7935426" MGI:1342540 RGD:1562979 LRG_1121|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1121.xml IKZF1 603023 318745 HGNC:13176 "ENST00000331340.8|NM_006060.6" HGNC:13176 +HGNC:13177 IKZF2 IKAROS family zinc finger 2 protein-coding gene gene with protein product Approved 2q34 02q34 Helios ZNFN1A2 "zinc finger protein, subfamily 1A, 2 (Helios)|IKAROS family zinc finger 2 (Helios)" Zinc fingers C2H2-type 28 1999-08-23 2006-08-25 2015-11-12 2016-10-05 22807 ENSG00000030419 OTTHUMG00000133005 uc061sai.1 AF130863 NM_016260 "CCDS2395|CCDS46507" Q9UKS7 "9512513|9560339" MGI:1342541 RGD:1308686 606234 HGNC:13177 "ENST00000434687.6|NM_001387220.1" +HGNC:13178 IKZF3 IKAROS family zinc finger 3 protein-coding gene gene with protein product Approved 17q12-q21.1 17q12-q21.1 Aiolos ZNFN1A3 "zinc finger protein, subfamily 1A, 3 (Aiolos)|IKAROS family zinc finger 3 (Aiolos)" Zinc fingers C2H2-type 28 1999-08-23 2006-08-25 2015-11-12 2018-02-13 22806 ENSG00000161405 OTTHUMG00000133250 uc002hsu.4 AF129512 NM_012481 "CCDS11348|CCDS11346|CCDS74055|CCDS58545|CCDS58544|CCDS11350|CCDS11349|CCDS58543|CCDS11351|CCDS58542|CCDS58541|CCDS58540|CCDS58539|CCDS11347" Q9UKT9 "9155026|10552935" MGI:1342542 RGD:1307024 IKZF3 606221 451586 HGNC:13178 "ENST00000346872.8|NM_012481.5" +HGNC:13179 IKZF4 IKAROS family zinc finger 4 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 Eos ZNFN1A4 "zinc finger protein, subfamily 1A, 4 (Eos)|IKAROS family zinc finger 4 (Eos)" Zinc fingers C2H2-type 28 1999-08-23 2006-08-25 2015-11-12 2016-10-11 64375 ENSG00000123411 OTTHUMG00000170132 uc058pgc.1 AF230809 NM_022465 "CCDS86309|CCDS44917" Q9H2S9 10978333 MGI:1343139 RGD:2319157 606239 HGNC:13179 "ENST00000547167.6|NM_022465.4" +HGNC:14283 IKZF5 IKAROS family zinc finger 5 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "Pegasus|FLJ22973" ZNFN1A5 "zinc finger protein, subfamily 1A, 5|zinc finger protein, subfamily 1A, 5 (Pegasus)|IKAROS family zinc finger 5 (Pegasus)" Zinc fingers C2H2-type 28 2004-02-20 2006-08-25 2015-11-12 2021-05-26 64376 ENSG00000095574 OTTHUMG00000019192 uc001lha.4 AF230808 NM_022466 CCDS41574 Q9H5V7 10978333 MGI:1914393 RGD:1310965 LRG_1429|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1429.xml 606238 HGNC:14283 "ENST00000368886.10|NM_001372123.1" HGNC:14283 +HGNC:5991 IL1A interleukin 1 alpha protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "IL1F1|IL-1A|IL1-ALPHA" "preinterleukin 1 alpha|hematopoietin-1|pro-interleukin-1-alpha" IL1 Interleukins 601 2001-06-22 2015-11-12 2016-10-05 3552 ENSG00000115008 OTTHUMG00000131315 uc002tig.4 M28983 NM_000575 CCDS2101 P01583 "8188271|2989698" MGI:96542 RGD:2890 147760 ligandId:4973 HGNC:5991 "ENST00000263339.4|NM_000575.5" +HGNC:5992 IL1B interleukin 1 beta protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "IL1F2|IL-1B|IL1-BETA" Interleukins 601 1989-03-31 2015-11-12 2016-10-05 3553 ENSG00000125538 OTTHUMG00000131344 uc002tii.2 M15330 NM_000576 CCDS2102 P01584 "2954882|2989698" MGI:96543 RGD:2891 147720 ligandId:4974 HGNC:5992 "ENST00000263341.7|NM_000576.3" HGNC:5992 +HGNC:15552 IL1F10 interleukin 1 family member 10 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FKSG75|IL-1HY2|IL-1F10|IL1-theta|MGC11983|MGC119832|MGC119833" "FIL1- theta|interleukin-1 receptor antagonist FKSG75" interleukin 1 family, member 10 (theta) Interleukins 601 2002-08-02 2017-08-07 2017-08-07 84639 ENSG00000136697 OTTHUMG00000131339 uc002tiu.4 AY026753 NM_173161 CCDS2112 Q8WWZ1 "11747621|11991723|11991722" MGI:2652548 RGD:1305635 615296 HGNC:15552 "ENST00000341010.6|NM_173161.3" +HGNC:5993 IL1R1 interleukin 1 receptor type 1 protein-coding gene gene with protein product Approved 2q11.2-q12.1 02q11.2-q12.1 "D2S1473|CD121A" interleukin-1 receptor, type I "IL1R|IL1RA" interleukin 1 receptor, type I "CD molecules|I-set domain containing|Interleukin receptors|TIR domain containing" "471|593|602|1296" 1990-06-27 2016-03-01 2018-02-13 3554 ENSG00000115594 OTTHUMG00000130783 uc061mlt.1 M27492 NM_000877 "CCDS74547|CCDS2055" P14778 "1833184|10191101" MGI:96545 RGD:2892 147810 objectId:1734 CD121A HGNC:5993 "ENST00000410023.6|NM_000877.4" +HGNC:53898 IL1R1-AS1 IL1R1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 AC007271.3 Antisense RNAs 1987 2018-05-16 2018-05-16 112577460 ENSG00000226925 NR_174960 29763905 +HGNC:5994 IL1R2 interleukin 1 receptor type 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 CD121b IL1RB interleukin 1 receptor, type II "CD molecules|Immunoglobulin like domain containing|Interleukin receptors" "471|594|602" 1992-11-30 2016-03-01 2016-10-05 7850 ENSG00000115590 OTTHUMG00000130695 uc002tbm.4 X59770 NM_004633 "CCDS58719|CCDS2054" P27930 "10191101|1833184" MGI:96546 RGD:621147 147811 objectId:2319 CD121b HGNC:5994 "ENST00000332549.8|NM_004633.4" +HGNC:5995 IL1RAP interleukin 1 receptor accessory protein protein-coding gene gene with protein product Approved 3q28 03q28 "IL-1RAcP|IL1R3|C3orf13" "Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing" "594|602|1296" 1997-10-09 2015-08-25 3556 ENSG00000196083 OTTHUMG00000156211 uc003fso.2 AB006537 NM_001167929 "CCDS46982|CCDS3298|CCDS54696" Q9NPH3 "9479509|9065432" MGI:104975 RGD:2893 602626 objectId:1897 HGNC:5995 "ENST00000447382.6|NM_002182.4" +HGNC:5996 IL1RAPL1 interleukin 1 receptor accessory protein like 1 protein-coding gene gene with protein product Approved Xp21.3-p21.2 Xp21.3-p21.2 "OPHN4|TIGIRR-2|IL1R8" "IL1RAPL|MRX34|MRX21|MRX10" "mental retardation, X-linked 34|mental retardation, X-linked 21|mental retardation, X-linked 10" "I-set domain containing|Interleukin receptors|TIR domain containing|MicroRNA protein coding host genes" "593|602|1296|1691" 1999-09-07 2016-01-12 2020-04-02 11141 ENSG00000169306 OTTHUMG00000021317 uc004dby.3 AJ243874 NM_014271 CCDS14218 Q9NZN1 "10471494|10757639" MGI:2687319 RGD:727891 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL1RAPL1 300206 159931 HGNC:5996 "ENST00000378993.6|NM_014271.4" HGNC:5996 +HGNC:5997 IL1RAPL2 interleukin 1 receptor accessory protein like 2 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "IL-1R9|TIGIRR-1|IL1RAPL-2|IL1R9" "Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing" "594|602|1296" 1999-11-19 2016-01-12 2020-04-02 26280 ENSG00000189108 OTTHUMG00000022141 uc004elz.1 AF181285 NM_017416 CCDS14517 Q9NP60 10757639 MGI:1913106 RGD:1561761 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL1RAPL2 300277 HGNC:5997 "ENST00000372582.6|NM_017416.2" +HGNC:5998 IL1RL1 interleukin 1 receptor like 1 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "ST2|FIT-1|ST2L|ST2V|DER4|T1|IL33R" homolog of mouse growth stimulation-expressed "I-set domain containing|Interleukin receptors|TIR domain containing" "593|602|1296" 1998-12-17 2016-01-12 2017-07-07 9173 ENSG00000115602 OTTHUMG00000130782 uc002tbu.1 D12764 NM_016232 "CCDS2057|CCDS2058|CCDS74548" Q01638 "1482686|10191101|16286016" MGI:98427 RGD:2894 601203 objectId:1735 HGNC:5998 "ENST00000233954.6|NM_016232.5" +HGNC:5999 IL1RL2 interleukin 1 receptor like 2 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "IL1R-rp2|IL1RRP2" "Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing" "594|602|1296" 1998-12-17 2016-01-12 2016-10-05 8808 ENSG00000115598 OTTHUMG00000130776 uc002tbs.4 U49065 NM_003854 "CCDS2056|CCDS86867" Q9HB29 "8898719|10191101|11466363" MGI:1913107 RGD:621782 604512 objectId:1736 HGNC:5999 "ENST00000264257.7|NM_003854.4" +HGNC:6000 IL1RN interleukin 1 receptor antagonist protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "IL1RA|ICIL-1RA|IL1F3|IRAP|IL-1RN|MGC10430" "interleukin-1 receptor antagonist protein|intracellular interleukin-1 receptor antagonist" Interleukins 601 1990-11-20 2022-03-02 3557 ENSG00000136689 OTTHUMG00000131341 uc002tjb.4 M55646 NM_173841 "CCDS2114|CCDS46396|CCDS2113|CCDS2115" P18510 "1386337|8432529" MGI:96547 RGD:621159 LRG_188|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_188.xml 147679 212902 ligandId:5878 HGNC:6000 "ENST00000409930.4|NM_173842.3" HGNC:6000 +HGNC:6001 IL2 interleukin 2 protein-coding gene gene with protein product Approved 4q27 04q27 "IL-2|TCGF" T cell growth factor Interleukins 601 1986-01-01 2016-10-05 3558 ENSG00000109471 OTTHUMG00000133075 uc003ier.4 U25676 NM_000586 CCDS3726 P60568 3260003 MGI:96548 RGD:620047 IL2 147680 ligandId:4985 HGNC:6001 "ENST00000226730.5|NM_000586.4" +HGNC:6008 IL2RA interleukin 2 receptor subunit alpha protein-coding gene gene with protein product Approved 10p15.1 10p15.1 CD25 "IL2R|IDDM10" "insulin-dependent diabetes mellitus 10|interleukin 2 receptor, alpha" "CD molecules|Interleukin receptors|Sushi domain containing" "471|602|1179" 1990-01-22 2015-12-11 2021-05-26 3559 ENSG00000134460 OTTHUMG00000017616 uc001iiz.3 X01057 NM_000417 "CCDS7076|CCDS76281" P01589 "3925551|17676041" MGI:96549 RGD:2895 "IL2RAbase: Mutation registry for Interleuken 2 receptor α deficiency|http://structure.bmc.lu.se/idbase/IL2RAbase/|LRG_73|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_73.xml" 147730 160265 objectId:1695 CD25 HGNC:6008 "ENST00000379959.8|NM_000417.3" HGNC:6008 +HGNC:6009 IL2RB interleukin 2 receptor subunit beta protein-coding gene gene with protein product Approved 22q12.3 22q12.3 CD122 IL15RB "interleukin 15 receptor, beta|interleukin 2 receptor, beta" "CD molecules|Interleukin receptors" "471|602" 1990-01-22 2015-12-11 2016-10-11 3560 ENSG00000100385 OTTHUMG00000150534 uc003aqv.2 M26062 NM_000878 CCDS13942 P14784 MGI:96550 RGD:2896 146710 355507 objectId:1696 CD122 HGNC:6009 "ENST00000216223.10|NM_000878.5" HGNC:6009 +HGNC:6010 IL2RG interleukin 2 receptor subunit gamma protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 CD132 "SCIDX1|IMD4|CIDX" "severe combined immunodeficiency|combined immunodeficiency, X-linked|interleukin 2 receptor, gamma" "CD molecules|Fibronectin type III domain containing|Interleukin receptors" "471|555|602" 1992-11-30 2015-12-11 2021-05-26 3561 ENSG00000147168 OTTHUMG00000021787 uc004dyw.4 D11086 NM_000206 CCDS14406 P31785 "1631559|7883965" MGI:96551 RGD:621466 "X-Linked Severe Combined Immuno deficiency SCID|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=IL2RG|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL2RG|LRG_150|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_150.xml" 308380 122641 objectId:2303 CD132 HGNC:6010 "ENST00000374202.7|NM_000206.3" HGNC:6010 +HGNC:6011 IL3 interleukin 3 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "IL-3|MULTI-CSF|MCGF|MGC79398|MGC79399" "multilineage-colony-stimulating factor|hematopoietic growth factor|P-cell stimulating factor|mast-cell growth factor|colony-stimulating factor, multiple" interleukin 3 (colony-stimulating factor, multiple) Interleukins 601 2001-06-22 2014-04-04 2015-07-06 3562 ENSG00000164399 OTTHUMG00000059640 uc003kwe.2 M14743 NM_000588 CCDS4149 P08700 3489530 MGI:96552 RGD:2897 147740 ligandId:4994 HGNC:6011 "ENST00000296870.3|NM_000588.4" +HGNC:6012 IL3RA interleukin 3 receptor subunit alpha protein-coding gene gene with protein product Approved Xp22.3 and Yp13.3 Xp22.3 and Yp13.3 CD123 interleukin 3 receptor, alpha (low affinity) "CD molecules|Interleukin receptors|Pseudoautosomal region 1" "471|602|715" 1992-10-28 2015-12-11 2015-12-11 3563 ENSG00000185291 OTTHUMG00000021059 uc004fpf.4 M74782 NM_001267713 "CCDS14113|CCDS59158" P26951 1833064 MGI:96553 RGD:628728 "308385|430000" objectId:1705 CD123 HGNC:6012 "ENST00000331035.10|NM_002183.4" +HGNC:6014 IL4 interleukin 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "BSF1|IL-4|BCGF1|BCGF-1|MGC79402" "B_cell stimulatory factor 1|lymphocyte stimulatory factor 1|B cell growth factor 1" Interleukins 601 1988-08-10 2016-10-05 3565 ENSG00000113520 OTTHUMG00000059724 uc003kxk.3 M23442 NM_000589 "CCDS87322|CCDS4158|CCDS4159" P05112 3016727 MGI:96556 RGD:2898 147780 ligandId:4996 HGNC:6014 "ENST00000231449.7|NM_000589.4" +HGNC:19094 IL4I1 interleukin 4 induced 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FIG1 L-amino-acid oxidase 2002-08-20 2022-03-30 259307 ENSG00000104951 OTTHUMG00000183377 uc010eno.4 AF293462 NM_001258017 "CCDS12786|CCDS12787" Q96RQ9 "12031486|20878154|29206151|32818467" MGI:109552 RGD:1304831 609742 "1.4.3.2|1.4.3.25" HGNC:19094 "ENST00000391826.7|NM_152899.2" +HGNC:6015 IL4R interleukin 4 receptor protein-coding gene gene with protein product Approved 16p12.1 16p12.1 CD124 interleukin 13 receptor "CD molecules|Interleukin receptors" "471|602" 1990-07-06 2021-12-15 3566 ENSG00000077238 OTTHUMG00000097015 uc002don.5 X52425 NM_000418 "CCDS58441|CCDS10629" P24394 1679753 MGI:105367 RGD:2899 147781 objectId:1697 CD124 HGNC:6015 "ENST00000395762.7|NM_000418.4" HGNC:6015 +HGNC:6016 IL5 interleukin 5 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "IL-5|EDF|TRF" "interleukin-5|T-cell replacing factor|B cell differentiation factor I|eosinophil differentiation factor|colony-stimulating factor, eosinophil" interleukin 5 (colony-stimulating factor, eosinophil) Interleukins 601 2001-06-22 2014-04-04 2015-07-06 3567 ENSG00000113525 OTTHUMG00000059496 uc003kxe.1 X04688 NM_000879 CCDS4156 P05113 3498940 MGI:96557 RGD:2900 147850 ligandId:4997 HGNC:6016 "ENST00000231454.6|NM_000879.3" +HGNC:6017 IL5RA interleukin 5 receptor subunit alpha protein-coding gene gene with protein product Approved 3p26.2 03p26.2 "CDw125|CD125" IL5R interleukin 5 receptor, alpha "CD molecules|Interleukin receptors" "471|602" 1992-06-18 2015-12-11 2016-10-11 3568 ENSG00000091181 OTTHUMG00000090245 uc010hbs.4 M96652 NM_000564 "CCDS46739|CCDS2560|CCDS58813|CCDS2559" Q01344 1732409 MGI:96558 RGD:70938 147851 objectId:1706 CDw125 HGNC:6017 "ENST00000446632.7|NM_175726.4" +HGNC:6018 IL6 interleukin 6 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "IL-6|BSF2|HGF|HSF" interferon, beta 2 IFNB2 interleukin 6 (interferon, beta 2) "Interferons|Interleukins|Interleukin 6 type cytokine family" "598|601|1264" 1986-01-01 2014-04-04 2021-05-26 3569 ENSG00000136244 OTTHUMG00000023178 uc064bxs.1 M18403 NM_000600 "CCDS5375|CCDS83166" P05231 3294161 MGI:96559 RGD:2901 147620 138462 ligandId:4998 HGNC:6018 "ENST00000258743.10|NM_000600.5" +HGNC:40301 IL6-AS1 IL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p15.3 07p15.3 Antisense RNAs 1987 2019-08-14 2019-08-14 541472 ENSG00000179428 OTTHUMG00000152547 NR_131935 HGNC:40301 +HGNC:6019 IL6R interleukin 6 receptor protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "CD126|IL-6R|IL-1Ra|IL6RA|gp80" "membrane glycoprotein 80|interleukin 6 receptor subunit alpha" "CD molecules|Immunoglobulin like domain containing|Interleukin receptors" "471|594|602" 2001-06-22 2021-05-26 3570 ENSG00000160712 OTTHUMG00000036073 uc001fez.2 X12830 NM_000565 "CCDS1068|CCDS72927|CCDS1067" P08887 "8428753|12633863" MGI:105304 RGD:2902 147880 objectId:1708 CD126 HGNC:6019 "ENST00000368485.8|NM_000565.4" +HGNC:53716 IL6R-AS1 IL6R antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 RP11-350G8.5 Antisense RNAs 1987 2017-08-30 2017-08-30 101928101 ENSG00000228013 OTTHUMG00000036070 NR_147855 28839111 HGNC:53716 +HGNC:6020 IL6RP1 interleukin 6 receptor pseudogene 1 pseudogene pseudogene Approved 9q22.2 09q22.2 IL6RL1 interleukin 6 receptor-like 1 1991-08-18 2010-10-19 2010-10-19 2014-11-19 157916 ENSG00000234910 OTTHUMG00000020190 NG_002785 1889804 PGOHUM00000236254 HGNC:6020 +HGNC:6021 IL6ST interleukin 6 cytokine family signal transducer protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "GP130|CD130|sGP130|IL-6RB" "gp130, oncostatin M receptor|Interleukin-6 receptor subunit beta|membrane glycoprotein 130" "interleukin 6 signal transducer (gp130, oncostatin M receptor)|interleukin 6 signal transducer" "CD molecules|Fibronectin type III domain containing|Interleukin receptors" "471|555|602" 1991-08-12 2021-02-04 2021-05-26 3572 ENSG00000134352 OTTHUMG00000097043 uc003jqq.4 M57230 NM_002184 "CCDS47209|CCDS54856|CCDS3971" P40189 2261637 MGI:96560 RGD:2903 IL6ST 600694 objectId:2317 CD130 HGNC:6021 "ENST00000381298.7|NM_002184.4" HGNC:6021 +HGNC:55804 IL6ST-DT IL6ST divergent transcript non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Divergent transcripts 1990 2021-07-29 2021-07-29 441072 ENSG00000227908 NR_102755 +HGNC:6022 IL6STP1 interleukin 6 signal transducer pseudogene 1 pseudogene pseudogene Approved 17p12 17p12 IL6STP "interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene|interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene 1" 1995-05-16 2010-04-14 2016-06-27 2016-10-05 3573 ENSG00000227018 OTTHUMG00000059144 NG_002748 7736792 PGOHUM00000237232 HGNC:6022 +HGNC:6023 IL7 interleukin 7 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 IL-7 Interleukins 601 1989-10-12 2016-10-11 3574 ENSG00000104432 OTTHUMG00000164620 uc022awh.2 J04156 NM_000880 "CCDS6224|CCDS75756|CCDS56541|CCDS75755" P13232 MGI:96561 RGD:2904 146660 ligandId:4999 HGNC:6023 "ENST00000263851.9|NM_000880.4" HGNC:6023 +HGNC:6024 IL7R interleukin 7 receptor protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "CD127|IL7RA" "CD molecules|Fibronectin type III domain containing|Interleukin receptors" "471|555|602" 1991-08-07 2021-04-13 3575 ENSG00000168685 OTTHUMG00000090791 uc003jjs.5 M29696 NM_002185 CCDS3911 P16871 2317865 MGI:96562 RGD:1309776 "IL7Rbase: Mutation registry for Interleukin-7 receptor α deficiency|http://structure.bmc.lu.se/idbase/IL7Rbase/|LRG_74|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_74.xml" IL7R 146661 159734 objectId:1698 CD127 HGNC:6024 "ENST00000303115.8|NM_002185.5" HGNC:6024 +HGNC:6029 IL9 interleukin 9 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "IL-9|HP40|P40" "p40 T-cell and mast cell growth factor|T-cell growth factor p40|p40 cytokine|homolog of mouse T cell and mast cell growth factor 40" Interleukins 601 1990-06-11 2016-10-05 3578 ENSG00000145839 OTTHUMG00000129147 uc003lbb.1 S63356 NM_000590 CCDS4189 P15248 8379467 MGI:96563 RGD:620049 146931 ligandId:5000 HGNC:6029 "ENST00000274520.2|NM_000590.2" +HGNC:6030 IL9R interleukin 9 receptor protein-coding gene gene with protein product Approved Xq28 and Yq12 Xq28 and Yq12 CD129 "CD molecules|Interleukin receptors|Pseudoautosomal region 2" "471|602|716" 1992-10-06 2020-04-02 3581 ENSG00000124334 OTTHUMG00000022720 uc004fxn.2 M84747 NM_002186 "CCDS59180|CCDS14771" Q01113 "1376929|8666384" MGI:96564 RGD:2907 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL9R 300007 objectId:1699 CD129 HGNC:6030 "ENST00000244174.11|NM_002186.3" +HGNC:6031 IL9RP1 interleukin 9 receptor pseudogene 1 pseudogene pseudogene Approved 9q34.3 09q34.3 1995-11-01 2020-04-20 100128449 ENSG00000229926 OTTHUMG00000020997 NG_030094 8666384 PGOHUM00000304481 HGNC:6031 +HGNC:6032 IL9RP2 interleukin 9 receptor pseudogene 2 pseudogene pseudogene Approved 10p15.3 10p15.3 1995-11-01 2020-04-20 439945 ENSG00000232420 OTTHUMG00000017525 L39063 NG_009864 8666384 HGNC:6032 +HGNC:6033 IL9RP3 interleukin 9 receptor pseudogene 3 pseudogene pseudogene Approved 16p13.3 16p13.3 1995-11-01 2011-04-28 729486 ENSG00000226942 OTTHUMG00000060718 L39062 NG_009865 8666384 PGOHUM00000248690 HGNC:6033 +HGNC:6034 IL9RP4 interleukin 9 receptor pseudogene 4 pseudogene pseudogene Approved 18p11.32 18p11.32 1995-11-01 2020-04-20 100132166 ENSG00000262081 OTTHUMG00000177934 NG_002764 8666384 PGOHUM00000294560 HGNC:6034 +HGNC:5962 IL10 interleukin 10 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "CSIF|TGIF|IL10A|IL-10" "cytokine synthesis inhibitory factor|T-cell growth inhibitory factor" Interleukins 601 1991-10-31 2021-05-26 3586 ENSG00000136634 OTTHUMG00000036386 uc001hen.2 M57627 NM_000572 CCDS1467 P22301 9162098 MGI:96537 RGD:2886 LRG_1230|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1230.xml 124092 122623 ligandId:4975 HGNC:5962 "ENST00000423557.1|NM_000572.3" HGNC:5962 +HGNC:5964 IL10RA interleukin 10 receptor subunit alpha protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "HIL-10R|CDW210A|CD210a|CD210" IL10R interleukin 10 receptor, alpha "CD molecules|Interleukin receptors" "471|602" 1994-05-12 2015-12-11 2021-05-26 3587 ENSG00000110324 OTTHUMG00000166523 uc001prv.5 U00672 NM_001558 CCDS8388 Q13651 8120391 MGI:96538 RGD:620138 LRG_151|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_151.xml 146933 244737 objectId:1727 CD210 HGNC:5964 "ENST00000227752.8|NM_001558.4" HGNC:5964 +HGNC:5965 IL10RB interleukin 10 receptor subunit beta protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "CRF2-4|CDW210B|IL-10R2" "CRFB4|D21S58|D21S66" interleukin 10 receptor, beta "CD molecules|Interleukin receptors" "471|602" 1993-04-06 2015-12-11 2021-05-26 3588 ENSG00000243646 OTTHUMG00000065128 uc002yrk.3 U08988 NM_000628 CCDS13623 Q08334 "8314576|9312047" MGI:109380 RGD:1560373 LRG_152|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_152.xml 123889 244742 objectId:1728 CDW210B HGNC:5965 "ENST00000290200.7|NM_000628.5" HGNC:5965 +HGNC:44303 IL10RB-DT IL10RB divergent transcript non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 IFNAR2-AS1 IFNAR2 antisense RNA 1 IL10RB-AS1 IL10RB antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-17 2018-03-23 2018-03-23 2018-03-23 100288432 ENSG00000223799 OTTHUMG00000065125 NR_038974 IL10RB-AS1 HGNC:44303 +HGNC:5966 IL11 interleukin 11 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "IL-11|AGIF" "adipogenesis inhibitory factor|oprelvekin" "Interleukins|Interleukin 6 type cytokine family" "601|1264" 1991-08-06 2021-05-26 3589 ENSG00000095752 OTTHUMG00000180789 uc002qks.3 X58377 NM_000641 "CCDS59423|CCDS12923" P20809 1386338 MGI:107613 RGD:621475 147681 ligandId:4976 HGNC:5966 "ENST00000264563.7|NM_000641.4" HGNC:5966 +HGNC:5967 IL11RA interleukin 11 receptor subunit alpha protein-coding gene gene with protein product Approved 9p13.3 09p13.3 interleukin 11 receptor, alpha "Immunoglobulin like domain containing|Interleukin receptors" "594|602" 1995-08-10 2015-12-11 2021-05-26 3590 ENSG00000137070 OTTHUMG00000019837 uc003zvi.5 Z38102 NM_001142784 CCDS6567 Q14626 "7670098|8808281" "MGI:107426|MGI:109123|MGI:3801997" RGD:621332 600939 284155 objectId:1709 HGNC:5967 "ENST00000441545.7|NM_001142784.3" HGNC:5967 +HGNC:5969 IL12A interleukin 12A protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "CLMF|IL-12A|p35|NFSK" "natural killer cell stimulatory factor 1, 35 kD subunit|cytotoxic lymphocyte maturation factor 1, p35|interleukin 12, p35|IL-12, subunit p35|NF cell stimulatory factor chain 1|interleukin-12 alpha chain|IL35 subunit" NKSF1 interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) Interleukins 601 1991-08-08 2014-04-04 2014-11-18 3592 ENSG00000168811 OTTHUMG00000158942 uc003fcx.4 M65271 NM_000882 "CCDS3187|CCDS87162|CCDS87161" P29459 1673147 MGI:96539 RGD:620562 161560 239865 ligandId:5001 HGNC:5969 "ENST00000305579.7|NM_000882.4" +HGNC:49094 IL12A-AS1 IL12A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.33 03q25.33 ILAS1-AS1 Antisense RNAs 1987 2013-09-02 2019-03-06 101928376 ENSG00000244040 OTTHUMG00000158951 AK097161 NR_108088 449090 IL12A-AS1 HGNC:49094 +HGNC:5970 IL12B interleukin 12B protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "CLMF|IL-12B|NKSF|CLMF2" "natural killer cell stimulatory factor-2|cytotoxic lymphocyte maturation factor 2, p40|interleukin 12, p40|natural killer cell stimulatory factor, 40 kD subunit|interleukin-12 beta chain|IL12, subunit p40" NKSF2 interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) "Immunoglobulin like domain containing|Interleukins" "594|601" 1991-08-08 2014-04-04 2021-05-26 3593 ENSG00000113302 OTTHUMG00000130307 uc003lxr.2 M65290 NM_002187 CCDS4346 P29460 1673147 MGI:96540 RGD:628704 "IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency|http://structure.bmc.lu.se/idbase/IL12Bbase/|LRG_71|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_71.xml" 161561 122629 ligandId:5002 HGNC:5970 "ENST00000231228.3|NM_002187.3" HGNC:5970 +HGNC:5971 IL12RB1 interleukin 12 receptor subunit beta 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 CD212 IL12RB interleukin 12 receptor, beta 1 "CD molecules|Fibronectin type III domain containing|Interleukin receptors" "471|555|602" 1995-09-14 2015-12-11 2021-05-26 3594 ENSG00000096996 OTTHUMG00000183417 uc002nhx.2 U03187 NM_001290023 "CCDS54232|CCDS32957" P42701 9284929 MGI:104579 RGD:620025 "IL12RB1base: Mutation registry for Interleukin-12 receptor ß1 deficiency|http://structure.bmc.lu.se/idbase/IL12RB1base/|LRG_72|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_72.xml" 601604 122634 objectId:1715 CD212 HGNC:5971 "ENST00000593993.7|NM_005535.3" HGNC:5971 +HGNC:5972 IL12RB2 interleukin 12 receptor subunit beta 2 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 interleukin 12 receptor, beta 2 "Fibronectin type III domain containing|Interleukin receptors" "555|602" 1997-02-10 2015-12-11 2021-04-13 3595 ENSG00000081985 OTTHUMG00000009094 uc001ddu.3 U64198 NM_001559 "CCDS58007|CCDS58006|CCDS72805|CCDS638" Q99665 "9284929|8943050" MGI:1270861 RGD:620026 LRG_707|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_707.xml 601642 objectId:1716 HGNC:5972 "ENST00000674203.2|NM_001374259.2" +HGNC:5973 IL13 interleukin 13 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "P600|IL-13|ALRH|BHR1|MGC116786|MGC116788|MGC116789" "allergic rhinitis|Bronchial hyperresponsiveness-1 (bronchial asthma)" Interleukins 601 1993-04-07 2016-10-05 3596 ENSG00000169194 OTTHUMG00000059723 uc003kxj.2 U31120 NM_002188 CCDS4157 P35225 MGI:96541 RGD:68949 147683 ligandId:4980 HGNC:5973 "ENST00000304506.7|NM_002188.3" +HGNC:5974 IL13RA1 interleukin 13 receptor subunit alpha 1 protein-coding gene gene with protein product Approved Xq24 Xq24 "IL-13Ra|NR4|CD213a1" "IL13 receptor alpha-1 chain|CD213a1 antigen" interleukin 13 receptor, alpha 1 "CD molecules|Interleukin receptors" "471|602" 1998-03-26 2015-12-11 2020-04-02 3597 ENSG00000131724 OTTHUMG00000022258 uc004eqs.4 U62858 NM_001560 CCDS14573 P78552 "8910586|9013879" MGI:105052 RGD:628741 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL13RA1 300119 objectId:1700 CD213a1 HGNC:5974 "ENST00000371666.8|NM_001560.3" +HGNC:5975 IL13RA2 interleukin 13 receptor subunit alpha 2 protein-coding gene gene with protein product Approved Xq23 Xq23 "IL-13R|IL13BP|CD213a2|CT19" cancer/testis antigen 19 interleukin 13 receptor, alpha 2 "CD molecules|Interleukin receptors" "471|602" 1998-03-26 2015-12-11 2020-04-02 3598 ENSG00000123496 OTTHUMG00000022229 uc004epx.4 X95302 NM_000640 CCDS14565 Q14627 "8663118|9083087" MGI:1277954 RGD:620838 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IL13RA2 300130 objectId:1701 CD213a2 HGNC:5975 "ENST00000243213.2|NM_000640.3" +HGNC:5977 IL15 interleukin 15 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "IL-15|MGC9721" Interleukins 601 1994-07-11 2016-10-05 3600 ENSG00000164136 OTTHUMG00000133418 uc003iit.4 U14407 NM_172175 "CCDS3756|CCDS3755" P40933 8178155 MGI:103014 RGD:2887 600554 ligandId:4981 HGNC:5977 "ENST00000320650.9|NM_000585.5" +HGNC:5978 IL15RA interleukin 15 receptor subunit alpha protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "CD215|IL-15RA" interleukin 15 receptor, alpha "CD molecules|Interleukin receptors|Sushi domain containing" "471|602|1179" 1995-08-10 2015-12-11 2016-04-25 3601 ENSG00000134470 OTTHUMG00000017612 uc021pmo.2 U31628 "NM_172200|NM_002189" "CCDS73065|CCDS58069|CCDS7074|CCDS7075" Q13261 8530383 MGI:104644 RGD:1305149 601070 objectId:1702 CD215 HGNC:5978 "ENST00000379977.8|NM_002189.4" +HGNC:5980 IL16 interleukin 16 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "LCF|IL-16|prIL-16|HsT19289|FLJ42735|FLJ16806" "prointerleukin 16|lymphocyte chemoattractant factor" interleukin 16 (lymphocyte chemoattractant factor) "Interleukins|PDZ domain containing" "601|1220" 1997-07-25 2011-07-14 2016-10-05 3603 ENSG00000172349 OTTHUMG00000144186 uc021ssh.2 U82972 NM_172217 "CCDS42069|CCDS10317|CCDS53966" Q14005 9144227 MGI:1270855 RGD:1583872 603035 HGNC:5980 "ENST00000683961.1|NM_172217.5" +HGNC:5981 IL17A interleukin 17A protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "IL-17A|IL-17" cytotoxic T-lymphocyte-associated protein 8 "CTLA8|IL17" interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8) Interleukins 601 1993-10-25 2006-04-26 2006-04-26 2021-10-15 3605 ENSG00000112115 OTTHUMG00000014840 uc003pak.1 U32659 NM_002190 CCDS4937 Q16552 8390535 MGI:107364 RGD:2888 LRG_1223|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1223.xml 603149 ligandId:4982 HGNC:5981 "ENST00000648244.1|NM_002190.3" +HGNC:5982 IL17B interleukin 17B protein-coding gene gene with protein product Approved 5q32 05q32 "IL-17B|ZCYTO7|IL-20|MGC138900|MGC138901|NIRF" neuronal interleukin-17-related factor Interleukins 601 2000-01-20 2019-12-05 27190 ENSG00000127743 OTTHUMG00000130051 uc003lqo.4 AF184969 NM_014443 CCDS4297 Q9UHF5 10639155 MGI:1928397 RGD:620614 604627 ligandId:5877 HGNC:5982 "ENST00000261796.4|NM_014443.3" +HGNC:5983 IL17C interleukin 17C protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "IL-17C|CX2|IL-21|MGC126884|MGC138401" Interleukins 601 2000-01-20 2019-12-05 27189 ENSG00000124391 OTTHUMG00000173241 uc002fla.4 AF152099 NM_013278 CCDS42217 Q9P0M4 10639155 MGI:2446486 RGD:1582798 604628 ligandId:5875 HGNC:5983 "ENST00000244241.5|NM_013278.4" +HGNC:5984 IL17D interleukin 17D protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "IL-27|IL-17D|IL27|FLJ30846" interleukin 27 Interleukins 601 2000-05-02 2020-01-02 53342 ENSG00000172458 OTTHUMG00000016521 uc001unm.3 AY078238 NM_138284 CCDS9292 Q8TAD2 12097364 MGI:2446510 RGD:1595926 607587 HGNC:5984 "ENST00000682841.1|NM_001385224.1" +HGNC:16404 IL17F interleukin 17F protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "IL-17F|ML-1|ML1" Interleukins 601 2002-03-18 2021-10-15 112744 ENSG00000112116 OTTHUMG00000014845 uc003pam.2 AF384857 NM_052872 CCDS4938 Q96PD4 "11591732|11591768" MGI:2676631 RGD:1311398 LRG_356|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_356.xml 606496 266117 ligandId:5873 HGNC:16404 "ENST00000336123.5|NM_052872.4" HGNC:16404 +HGNC:5985 IL17RA interleukin 17 receptor A protein-coding gene gene with protein product Approved 22q11.1 22q11.1 "hIL-17R|IL-17RA|CDw217|CD217" IL17R interleukin 17 receptor "CD molecules|Interleukin receptors" "471|602" 1999-10-29 2006-04-26 2006-04-26 2021-05-26 23765 ENSG00000177663 OTTHUMG00000150026 uc002zly.5 U58917 NM_014339 "CCDS77645|CCDS13739" Q96F46 "9367539|10591208" MGI:107399 RGD:1306559 LRG_355|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_355.xml 605461 266109 objectId:1738 CDw217 HGNC:5985 "ENST00000319363.11|NM_014339.7" HGNC:5985 +HGNC:18015 IL17RB interleukin 17 receptor B protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "IL17RH1|EVI27|CRL4" IL17BR interleukin 17B receptor Interleukin receptors 602 2002-01-18 2003-07-09 2015-08-25 55540 ENSG00000056736 OTTHUMG00000158280 uc003dha.4 AF212365 NM_172234 CCDS2874 Q9NRM6 "10749887|10815801" MGI:1355292 RGD:1311392 605458 objectId:1739 HGNC:18015 "ENST00000288167.8|NM_018725.4" +HGNC:18358 IL17RC interleukin 17 receptor C protein-coding gene gene with protein product Approved 3p25.3 03p25.3 IL17-RL Interleukin receptors 602 2003-07-07 2021-05-26 84818 ENSG00000163702 OTTHUMG00000128648 uc003bua.4 BC006411 NM_032732 "CCDS2590|CCDS56240|CCDS2591|CCDS74898|CCDS46746|CCDS56241" Q8NAC3 11706037 MGI:2159336 RGD:1306392 LRG_1311|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1311.xml 610925 431928 objectId:1740 HGNC:18358 "ENST00000403601.8|NM_153460.4" HGNC:18358 +HGNC:17616 IL17RD interleukin 17 receptor D protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "SEF|IL17RLM|FLJ35755|IL-17RD" similar expression to fgf genes "Interleukin receptors|TIR domain containing" "602|1296" 2003-07-07 2021-10-15 54756 ENSG00000144730 OTTHUMG00000150171 uc003dil.3 AF494208 NM_017563 "CCDS82790|CCDS2880" Q8NFM7 "11802164|12604616|31175175" MGI:2159727 RGD:1565237 606807 353734 objectId:1741 HGNC:17616 "ENST00000296318.12|NM_017563.5" HGNC:17616 +HGNC:18439 IL17RE interleukin 17 receptor E protein-coding gene gene with protein product Approved 3p25.3 03p25.3 FLJ23658 Interleukin receptors 602 2003-07-07 2015-08-25 132014 ENSG00000163701 OTTHUMG00000128649 uc003btw.4 AF458069 NM_153480 "CCDS2589|CCDS54552" Q8NFR9 MGI:1889371 RGD:735148 614995 objectId:1742 HGNC:18439 "ENST00000383814.8|NM_153480.2" +HGNC:33808 IL17REL interleukin 17 receptor E like protein-coding gene gene with protein product Approved 22q13.33 22q13.33 FLJ41993 2007-12-14 2016-06-13 2016-06-13 400935 ENSG00000188263 OTTHUMG00000150242 uc003bje.2 AK123987 NM_001001694 CCDS33679 Q6ZVW7 613414 HGNC:33808 +HGNC:5986 IL18 interleukin 18 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "IGIF|IL1F4|IL-1g|IL-18" interferon-gamma-inducing factor interleukin 18 (interferon-gamma-inducing factor) Interleukins 601 1997-07-25 2014-04-04 2015-07-06 3606 ENSG00000150782 OTTHUMG00000167006 uc001pnb.2 U90434 NM_001562 "CCDS44731|CCDS58180" Q14116 "7477296|9693051" MGI:107936 RGD:2889 600953 470496 ligandId:4983 HGNC:5986 "ENST00000280357.12|NM_001562.4" +HGNC:5987 IL18BP interleukin 18 binding protein protein-coding gene gene with protein product Approved 11q13.4 11q13.4 IL18BPa MC51L-53L-54L homolog gene product Immunoglobulin like domain containing 594 1999-05-21 2016-10-05 10068 ENSG00000137496 OTTHUMG00000133713 uc001orf.2 AF110798 NM_173042 "CCDS8206|CCDS44666|CCDS8207" O95998 10023777 MGI:1333800 RGD:620042 604113 HGNC:5987 "ENST00000393703.9|NM_001039660.2" +HGNC:5988 IL18R1 interleukin 18 receptor 1 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "IL1RRP|IL-1Rrp|CD218a" "CD molecules|Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing" "471|594|602|1296" 1998-12-17 2016-10-05 8809 ENSG00000115604 OTTHUMG00000130780 uc002tbw.7 U43672 NM_003855 CCDS2060 Q13478 "8626725|10191101" MGI:105383 RGD:1308589 604494 objectId:1737 CDw218a HGNC:5988 "ENST00000233957.7|NM_003855.5" +HGNC:5989 IL18RAP interleukin 18 receptor accessory protein protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "AcPL|CD218b" "CD molecules|Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing|MicroRNA protein coding host genes" "471|594|602|1296|1691" 1998-12-17 2015-08-25 8807 ENSG00000115607 OTTHUMG00000130777 uc002tbx.4 AF077346 NM_003853 CCDS2061 O95256 9792649 MGI:1338888 RGD:727867 604509 objectId:2320 CDw218b HGNC:5989 "ENST00000687160.1|NM_001393487.1" +HGNC:5990 IL19 interleukin 19 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "IL-19|MDA1|ZMDA1|IL-10C|NG.1" melanoma differentiation associated protein-like protein Interleukins 601 2000-03-29 2016-10-05 29949 ENSG00000142224 OTTHUMG00000036387 uc001heo.3 AF192498 NM_153758 CCDS1469 Q9UHD0 11196675 MGI:1890472 RGD:1583546 605687 ligandId:4984 HGNC:5990 "ENST00000659997.3|NM_153758.5" +HGNC:6002 IL20 interleukin 20 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "ZCYTO10|IL10D|IL-20" Interleukins 601 2000-03-29 2016-10-05 50604 ENSG00000162891 OTTHUMG00000036456 uc031vlv.2 AF224266 NM_018724 CCDS1470 Q9NYY1 11163236 MGI:1890473 RGD:1583578 605619 ligandId:4986 HGNC:6002 "ENST00000367098.6|NM_018724.4" +HGNC:6003 IL20RA interleukin 20 receptor subunit alpha protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "ZCYTOR7|IL-20R1" "interleukin 20 receptor, alpha|interleukin 20 receptor alpha subunit" Interleukin receptors 602 2000-05-23 2015-12-11 2015-12-11 53832 ENSG00000016402 OTTHUMG00000015654 uc003qhj.5 AF184971 NM_014432 "CCDS64535|CCDS64536|CCDS5181" Q9UHF4 "10875937|11163236" MGI:3605069 RGD:1307335 605620 objectId:1729 HGNC:6003 "ENST00000316649.10|NM_014432.4" +HGNC:6004 IL20RB interleukin 20 receptor subunit beta protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "DIRS1|IL-20R2|MGC34923" FNDC6 "fibronectin type III domain containing 6|interleukin 20 receptor beta|interleukin 20 receptor beta subunit" "Fibronectin type III domain containing|Interleukin receptors" "555|602" 2000-05-23 2015-12-11 2015-12-11 53833 ENSG00000174564 OTTHUMG00000159779 uc003eri.3 BC033292 NM_144717 CCDS3093 Q6UXL0 "11163236|16703417" MGI:2143266 RGD:1566151 605621 objectId:1730 HGNC:6004 "ENST00000329582.9|NM_144717.4" +HGNC:40298 IL20RB-AS1 IL20RB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q22.3 03q22.3 IL20RB antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 107986136 ENSG00000249407 OTTHUMG00000163091 uc062oel.1 XR_001740929 IL20RB-AS1 HGNC:40298 +HGNC:6005 IL21 interleukin 21 protein-coding gene gene with protein product Approved 4q27 04q27 "Za11|IL-21" Interleukins 601 2000-03-29 2021-04-13 59067 ENSG00000138684 OTTHUMG00000133073 uc003ies.4 AF254069 NM_021803 "CCDS75189|CCDS3727" Q9HBE4 "11081504|17947662" MGI:1890474 RGD:1307384 LRG_1263|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1263.xml 605384 402379 ligandId:4987 HGNC:6005 "ENST00000648588.1|NM_021803.4" HGNC:6005 +HGNC:40299 IL21-AS1 IL21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q27 04q27 IL21 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-09 2012-08-15 2014-11-19 100996941 ENSG00000227145 OTTHUMG00000150127 uc003iet.4 BC045668 NR_104126 IL21-AS1 HGNC:40299 +HGNC:6006 IL21R interleukin 21 receptor protein-coding gene gene with protein product Approved 16p12.1 16p12.1 CD360 "CD molecules|Interleukin receptors" "471|602" 2000-03-29 2021-05-26 50615 ENSG00000103522 OTTHUMG00000131675 uc002doq.2 AF254067 NM_181078 CCDS10630 Q9HBE5 11081504 MGI:1890475 RGD:1304950 LRG_731|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_731.xml IL21R 605383 357435 objectId:1703 HGNC:6006 "ENST00000337929.8|NM_181078.3" HGNC:6006 +HGNC:27551 IL21R-AS1 IL21R antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 IL21R antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2017-02-01 283888 ENSG00000259954 OTTHUMG00000176806 uc002dot.4 AK093371 NR_037158 26857419 IL21R-AS1 HGNC:27551 +HGNC:14900 IL22 interleukin 22 protein-coding gene gene with protein product Approved 12q15 12q15 "ILTIF|IL-21|zcyto18|IL-TIF|IL-D110|TIFa|TIFIL-23|IL-22|MGC79382|MGC79384" IL-10-related T-cell-derived inducible factor Interleukins 601 2001-03-12 2021-04-13 50616 ENSG00000127318 OTTHUMG00000169119 uc010stb.2 AF279437 NM_020525 CCDS8982 Q9GZX6 "10954742|10875937" "MGI:1355307|MGI:2151139" RGD:1561292 LRG_1248|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1248.xml 605330 471222 ligandId:4988 HGNC:14900 "ENST00000538666.6|NM_020525.5" +HGNC:13700 IL22RA1 interleukin 22 receptor subunit alpha 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CRF2-9 IL22R "interleukin 22 receptor|interleukin 22 receptor, alpha 1" Interleukin receptors 602 2000-10-16 2002-12-06 2015-12-11 2015-12-11 58985 ENSG00000142677 OTTHUMG00000003041 uc001biq.3 AF286095 NM_021258 CCDS247 Q8N6P7 10875937 MGI:2663588 RGD:1559655 605457 objectId:1731 HGNC:13700 "ENST00000270800.2|NM_021258.4" +HGNC:14901 IL22RA2 interleukin 22 receptor subunit alpha 2 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "CRF2-S1|IL-22BP" interleukin 22 receptor, alpha 2 Interleukin receptors 602 2002-12-02 2015-12-11 2016-10-11 116379 ENSG00000164485 OTTHUMG00000015655 uc003qhm.3 AY044429 NM_052962 "CCDS5182|CCDS5183|CCDS5184" Q969J5 "11481447|11390454" MGI:2665114 RGD:1303169 606648 objectId:1732 HGNC:14901 "ENST00000296980.7|NM_052962.3" +HGNC:15488 IL23A interleukin 23 subunit alpha protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "SGRF|IL23P19|IL-23|IL-23A|P19" interleukin-six, G-CSF related factor interleukin 23, alpha subunit p19 Interleukins 601 2001-04-10 2015-12-11 2016-10-11 51561 ENSG00000110944 OTTHUMG00000187402 uc001sla.4 AB030000 NM_016584 CCDS8916 Q9NPF7 11114383 MGI:1932410 RGD:620873 605580 ligandId:4989 HGNC:15488 "ENST00000228534.6|NM_016584.3" +HGNC:19100 IL23R interleukin 23 receptor protein-coding gene gene with protein product Approved 1p31.3 01p31.3 IL-23R 2004-10-18 2016-10-05 149233 ENSG00000162594 OTTHUMG00000009092 uc001ddo.4 AF461422 NM_144701 CCDS637 Q5VWK5 12023369 MGI:2181693 RGD:1586368 607562 122638 objectId:1717 HGNC:19100 "ENST00000347310.10|NM_144701.3" +HGNC:11346 IL24 interleukin 24 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "mda-7|IL10B|Mob-5|C49A|FISP|IL-24" "melanoma differentiation association protein 7|suppression of tumorigenicity 16 (melanoma differentiation)|IL-4-induced secreted protein" ST16 Interleukins 601 1999-12-02 2001-06-29 2016-10-05 11009 ENSG00000162892 OTTHUMG00000036459 uc001hew.3 U16261 NM_006850 "CCDS53465|CCDS53466|CCDS73021|CCDS1471" Q13007 "8545104|8799171" MGI:2135548 RGD:621484 604136 ligandId:4990 HGNC:11346 "ENST00000294984.7|NM_006850.3" +HGNC:13765 IL25 interleukin 25 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "IL-25|IL-17E" IL17E interleukin 17E Interleukins 601 2001-01-26 2006-05-17 2006-05-17 2019-12-05 64806 ENSG00000166090 OTTHUMG00000028749 uc001wjr.3 AF305200 NM_022789 "CCDS9597|CCDS45086" Q9H293 "11058597|11754819" MGI:2155888 RGD:1561632 605658 ligandId:5876 HGNC:13765 +HGNC:17119 IL26 interleukin 26 protein-coding gene gene with protein product Approved 12q15 12q15 "AK155|IL-26" Interleukins 601 2001-11-23 2008-08-04 55801 ENSG00000111536 OTTHUMG00000169114 uc001stx.2 AJ251549 NM_018402 CCDS8981 Q9NPH9 "10729163|11528524" 605679 HGNC:17119 "ENST00000229134.5|NM_018402.2" +HGNC:19157 IL27 interleukin 27 protein-coding gene gene with protein product Approved 16p12.1-p11.2 16p12.1-p11.2 "IL-27|p28|IL27p28|IL-27A|IL27A|MGC71873" IL30 interleukin 30 Interleukins 601 2002-11-04 2003-12-19 2003-12-17 2018-02-13 246778 ENSG00000197272 OTTHUMG00000097023 uc002dqc.3 AY099296 NM_145659 CCDS10633 Q8NEV9 12121660 MGI:2384409 RGD:1561420 608273 ligandId:6152 HGNC:19157 "ENST00000356897.1|NM_145659.3" +HGNC:17290 IL27RA interleukin 27 receptor subunit alpha protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "WSX-1|TCCR|CRL1|WSX1|zcytor1|IL-27R" T-cell cytokine receptor type 1 interleukin 27 receptor, alpha "Fibronectin type III domain containing|Interleukin receptors" "555|602" 2004-02-10 2015-12-11 2016-10-11 9466 ENSG00000104998 OTTHUMG00000181990 uc002mxx.5 AF053004 NM_004843 CCDS12303 Q6UWB1 "9600072|11057672" MGI:1355318 RGD:1305029 605350 objectId:2318 HGNC:17290 "ENST00000263379.4|NM_004843.4" +HGNC:19372 IL31 interleukin 31 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 IL-31 Interleukins 601 2003-11-06 2014-11-19 386653 ENSG00000204671 OTTHUMG00000168916 uc001ubv.3 AY499343 NM_001014336 CCDS31919 Q6EBC2 15184896 MGI:1923649 RGD:1585183 609509 ligandId:4995 HGNC:19372 "ENST00000377035.2|NM_001014336.2" +HGNC:18969 IL31RA interleukin 31 receptor A protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "CRL3|GLM-R|CRL|Glmr|IL-31RA" "Fibronectin type III domain containing|Interleukin receptors" "555|602" 2003-11-06 2014-11-19 133396 ENSG00000164509 OTTHUMG00000097045 uc003jql.4 AY499339 NM_139017 "CCDS75244|CCDS75245|CCDS3970|CCDS56365|CCDS56367" Q8NI17 "15184896|11877449" MGI:2180511 RGD:1586478 609510 220737 objectId:1710 HGNC:18969 "ENST00000652347.2|NM_139017.7" HGNC:18969 +HGNC:16830 IL32 interleukin 32 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "NK4|TAIF|TAIFb|TAIFd" natural killer cell transcript 4 Interleukins 601 2005-02-08 2014-11-18 9235 ENSG00000008517 OTTHUMG00000167498 uc002cto.4 M59807 NM_004221 "CCDS32378|CCDS32379|CCDS45394|CCDS76811|CCDS32377" P24001 "1729377|9653642" 606001 HGNC:16830 "ENST00000525643.7|NM_001376923.1" +HGNC:16028 IL33 interleukin 33 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "DVS27|DKFZp586H0523|NF-HEV|IL1F11" "DVS27-related protein|nuclear factor for high endothelial venules|interleukin-1 family, member 11" C9orf26 chromosome 9 open reading frame 26 (NF-HEV) Interleukins 601 2003-12-18 2006-11-20 2006-11-20 2014-11-19 90865 ENSG00000137033 OTTHUMG00000019516 uc064sap.1 AB024518 NM_033439 "CCDS56564|CCDS56563|CCDS6468|CCDS83341" O95760 "10566975|12819012" MGI:1924375 RGD:1311155 608678 ligandId:5880 HGNC:16028 "ENST00000682010.1|NM_033439.4" +HGNC:28529 IL34 interleukin 34 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "MGC34647|IL-34" C16orf77 chromosome 16 open reading frame 77 Interleukins 601 2006-08-01 2008-06-04 2008-06-04 2014-11-18 146433 ENSG00000157368 OTTHUMG00000137581 uc002ezh.2 BC029804 NM_152456 CCDS10895 Q6ZMJ4 18467591 MGI:1923777 RGD:1586038 612081 ligandId:8975 HGNC:28529 "ENST00000288098.7|NM_001393494.1" +HGNC:15562 IL36A interleukin 36 alpha protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FIL1|FIL1E|IL-1F6|IL1(EPSILON)|MGC129553|MGC129552" IL1F6 interleukin 1 family, member 6 (epsilon) Interleukins 601 2002-08-02 2011-06-06 2017-09-14 2017-09-14 27179 ENSG00000136694 OTTHUMG00000153320 uc010yxr.3 AF201831 NM_014440 CCDS42734 Q9UHA7 10625660 MGI:1859324 RGD:1306869 605509 ligandId:5881 HGNC:15562 "ENST00000259211.7|NM_014440.3" +HGNC:15564 IL36B interleukin 36 beta protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FIL1|IL-1H2|IL-1F8|FILI-(ETA)|IL1-ETA|IL1H2|MGC126880|MGC126882" IL1F8 interleukin 1 family, member 8 (eta) Interleukins 601 2002-08-02 2011-06-06 2017-09-14 2017-09-14 27177 ENSG00000136696 OTTHUMG00000131338 uc002tiq.2 AF201833 NM_014438 "CCDS2109|CCDS2110" Q9NZH7 "10625660|10512743|16646978" MGI:1916927 RGD:1307847 605508 ligandId:5882 HGNC:15564 "ENST00000259213.9|NM_014438.5" +HGNC:15741 IL36G interleukin 36 gamma protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "IL-1H1|IL-1RP2|IL-1F9|IL1H1|IL1E" "interleukin-1 homolog 1|interleukin 1-related protein 2|interleukin-1 epsilon" IL1F9 interleukin 1 family, member 9 Interleukins 601 2002-08-02 2011-06-06 2017-09-14 2017-09-14 56300 ENSG00000136688 OTTHUMG00000131336 uc002tio.3 AF200492 NM_019618 "CCDS2108|CCDS62992" Q9NZH8 "10860666|10744718|11991722|11991723" MGI:2449929 RGD:1563019 605542 ligandId:5883 HGNC:15741 "ENST00000259205.5|NM_019618.4" +HGNC:15561 IL36RN interleukin 36 receptor antagonist protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FIL1|FIL1(DELTA)|FIL1D|IL1HY1|IL1RP3|IL1L1|IL-1F5|IL36RA|MGC29840" "family of interleukin 1-delta|interleukin-1 receptor antagonist homolog 1|interleukin-1 HY1|IL-1 related protein 3" IL1F5 interleukin 1 family, member 5 (delta) Interleukins 601 2002-08-02 2011-06-06 2011-06-06 2021-05-26 26525 ENSG00000136695 OTTHUMG00000131337 uc002tis.4 AF201830 NM_173170 CCDS2111 Q9UBH0 "10625660|10512743|11574262" MGI:1859325 RGD:1311212 LRG_730|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_730.xml 605507 281457 ligandId:5879 HGNC:15561 "ENST00000393200.7|NM_012275.3" HGNC:15561 +HGNC:15563 IL37 interleukin 37 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FIL1|FIL1Z|FIL1(ZETA)|IL-1H4|IL-1RP1|IL-1F7" "interleukin 1, zeta|interleukin-1 homolog 4|interleukin-1-related protein" IL1F7 interleukin 1 family, member 7 (zeta) Interleukins 601 2002-08-02 2011-06-06 2011-06-06 2016-10-05 27178 ENSG00000125571 OTTHUMG00000131345 uc002tij.4 AF201832 NM_014439 "CCDS2105|CCDS2107|CCDS2104|CCDS2106|CCDS2103" Q9NZH6 "10625660|10512743|12496389" 605510 ligandId:6149 HGNC:15563 "ENST00000263326.8|NM_014439.4" +HGNC:28741 ILDR1 immunoglobulin like domain containing receptor 1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 MGC50831 angulin-2 DFNB42 "deafness, autosomal recessive 42|immunoglobulin-like domain containing receptor 1" 2004-07-27 2016-01-21 2021-04-13 286676 ENSG00000145103 OTTHUMG00000159481 uc003eer.4 BC044240 NM_175924 "CCDS3008|CCDS56271|CCDS56270" Q86SU0 "15641023|21255762" MGI:2146574 RGD:1307792 LRG_1377|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1377.xml 609739 259373 HGNC:28741 "ENST00000344209.10|NM_001199799.2" HGNC:28741 +HGNC:18131 ILDR2 immunoglobulin like domain containing receptor 2 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 "LISCH-like|angulin-3" C1orf32 "chromosome 1 open reading frame 32|immunoglobulin-like domain containing receptor 2" 2004-04-30 2008-12-18 2016-01-21 2020-08-25 387597 ENSG00000143195 OTTHUMG00000034320 uc001gdx.3 AF503509 NM_199351 CCDS1256 Q71H61 MGI:1196370 RGD:1596420 618081 objectId:2986 HGNC:18131 "ENST00000271417.8|NM_199351.3" +HGNC:6037 ILF2 interleukin enhancer binding factor 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 NF45 "interleukin enhancer binding factor 2, 45kD|interleukin enhancer binding factor 2, 45kDa" 1994-11-15 2012-12-04 2015-08-25 3608 ENSG00000143621 OTTHUMG00000037087 uc001fcr.5 U10323 NM_004515 "CCDS72919|CCDS1050" Q12905 7519613 MGI:1915031 RGD:1305734 603181 HGNC:6037 "ENST00000361891.9|NM_004515.4" +HGNC:44695 ILF2P1 interleukin enhancer binding factor 2 pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 2012-12-04 2012-12-04 100421506 ENSG00000244226 OTTHUMG00000158735 NG_029778 PGOHUM00000238049 HGNC:44695 +HGNC:44696 ILF2P2 interleukin enhancer binding factor 2 pseudogene 2 pseudogene pseudogene Approved 14q13.2 14q13.2 2012-12-04 2012-12-04 644616 ENSG00000257720 OTTHUMG00000170568 NG_022839 PGOHUM00000247771 HGNC:44696 +HGNC:6038 ILF3 interleukin enhancer binding factor 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "NF90|MPHOSPH4|MPP4|NFAR-1|NFAR110|NFAR-2|TCP110|NF110|DRBP76|NFAR90|NF110b|NF90a|NF90c|NF90ctv|MPP4110" "M-phase phosphoprotein 4|nuclear factor of activated T-cells 90 kDa|nuclear factor of activated T-cells 110 kDa|translational control protein 80|double-stranded RNA-binding protein, 76 kD|M phase phosphoprotein 4, nuclear factor associated with DS RNA|dsRNA binding protein NFAR-2/MPP4" "interleukin enhancer binding factor 3, 90kD|interleukin enhancer binding factor 3, 90kDa" 1994-11-15 2015-11-09 2019-03-22 3609 ENSG00000129351 OTTHUMG00000180587 uc002mpo.4 U10324 NM_001137673 "CCDS12246|CCDS12247|CCDS45966|CCDS45965|CCDS45967" Q12906 "7519613|8885239|25447144" MGI:1339973 RGD:619734 603182 HGNC:6038 +HGNC:27115 ILF3-DT ILF3 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 ILF3-AS1 "ILF3 antisense RNA 1 (non-protein coding)|ILF3 antisense RNA 1|ILF3 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-08-10 2018-03-23 2018-12-20 2018-12-20 147727 ENSG00000267100 OTTHUMG00000180586 uc002mpj.4 "BC007593|BC044911|DB002247" NR_024333 28935763 ILF3-AS1 HGNC:27115 +HGNC:6040 ILK integrin linked kinase protein-coding gene gene with protein product Approved 11p15.4 11p15.4 integrin-linked kinase Ankyrin repeat domain containing 403 1997-05-22 2015-11-12 2021-04-13 3611 ENSG00000166333 OTTHUMG00000133407 uc001mef.5 U40282 NM_004517 "CCDS60712|CCDS7768|CCDS60713" Q13418 8538749 MGI:1195267 RGD:620063 LRG_444|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_444.xml 602366 objectId:2041 HGNC:6040 "ENST00000299421.9|NM_004517.4" HGNC:6040 +HGNC:15566 ILKAP ILK associated serine/threonine phosphatase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "DKFZP434J2031|FLJ10181|PPM1O" protein phosphatase, Mg2+/Mn2+ dependent 1O "integrin-linked kinase-associated serine/threonine phosphatase 2C|integrin-linked kinase-associated serine/threonine phosphatase" Protein phosphatases, Mg2+/Mn2+ dependent 701 2001-06-01 2015-11-12 2015-11-20 80895 ENSG00000132323 OTTHUMG00000133334 uc002vxv.4 AY024365 NM_030768 CCDS2526 Q9H0C8 MGI:1914694 RGD:620128 618909 3.1.3.16 HGNC:15566 "ENST00000254654.8|NM_030768.3" +HGNC:21215 ILRUN inflammation and lipid regulator with UBA-like and NBR1-like domains protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "FLJ22195|dJ391O22.4" C6orf106 chromosome 6 open reading frame 106 2003-11-25 2019-02-18 2019-02-18 2020-06-12 64771 ENSG00000196821 OTTHUMG00000014553 uc003ojr.4 AF052106 NM_022758 "CCDS4795|CCDS4796" Q9H6K1 "25736925|29802199|30252044|32518853" MGI:106281 RGD:1559829 612217 HGNC:21215 "ENST00000374023.8|NM_024294.4" +HGNC:55216 ILRUN-AS1 ILRUN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 Antisense RNAs 1987 2020-08-21 2020-08-21 101929243 ENSG00000272288 NR_134625 +HGNC:54748 ILRUNP1 ILRUN pseudogene 1 pseudogene pseudogene Approved 2q12.2 02q12.2 2019-12-20 2019-12-20 105369222 ENSG00000227513 +HGNC:6041 ILVBL ilvB acetolactate synthase like protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "209L8|AHAS|ILV2H|MGC1269|FLJ39061|MGC19535|HACL1L" "acetolactate synthase homolog|2-hydroxyacyl-CoA lyase 1 like" ilvB (bacterial acetolactate synthase)-like 1999-09-07 2016-06-22 2016-10-05 10994 ENSG00000105135 OTTHUMG00000165630 uc002nam.5 U61263 NM_006844 CCDS12325 A1L0T0 8954801 MGI:1351911 RGD:1307988 605770 HGNC:6041 "ENST00000263383.8|NM_006844.5" +HGNC:55279 ILVBL-AS1 ILVBL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 Antisense RNAs 1987 2020-10-07 2020-10-07 118827806 ENSG00000268564 +HGNC:26317 IMMP1L inner mitochondrial membrane peptidase subunit 1 protein-coding gene gene with protein product Approved 11p13 11p13 FLJ25059 IMMP1 IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) 2005-09-13 2015-06-25 2015-06-25 2015-06-25 196294 ENSG00000148950 OTTHUMG00000166226 uc001msy.1 NM_144981 CCDS7874 Q96LU5 15814844 MGI:1913791 RGD:1587441 612323 HGNC:26317 "ENST00000532287.6|NM_001304274.2" +HGNC:51131 IMMP1LP1 inner mitochondrial membrane peptidase subunit 1 pseudogene 1 pseudogene pseudogene Approved 11q13.1 11q13.1 IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 1 2014-07-30 2015-06-25 2015-06-25 729101 ENSG00000270269 OTTHUMG00000184758 NG_033985 PGOHUM00000291002 HGNC:51131 +HGNC:51132 IMMP1LP2 inner mitochondrial membrane peptidase subunit 1 pseudogene 2 pseudogene pseudogene Approved 12q24.13 12q24.13 IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 2 2014-07-30 2015-06-25 2015-11-30 105369987 ENSG00000258159 OTTHUMG00000169801 NG_042205 PGOHUM00000291809 HGNC:51132 +HGNC:51134 IMMP1LP3 inner mitochondrial membrane peptidase subunit 1 pseudogene 3 pseudogene pseudogene Approved 7p22.3 07p22.3 IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 3 2014-07-30 2015-06-25 2015-06-25 106481715 ENSG00000271098 OTTHUMG00000184490 NG_045041 PGOHUM00000302504 HGNC:51134 +HGNC:14598 IMMP2L inner mitochondrial membrane peptidase subunit 2 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 IMP2 IMMP2L-IT1 "IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)|IMMP2L intronic transcript 1 (non-protein coding)|IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)" 2003-07-11 2015-06-25 2018-01-23 83943 ENSG00000184903 OTTHUMG00000155023 uc010ljr.3 AF359563 NM_032549 "CCDS5753|CCDS87540" Q96T52 11254443 MGI:2135611 RGD:2323665 605977 122646 S26.A09 HGNC:14598 "ENST00000405709.7|NM_032549.4" +HGNC:6047 IMMT inner membrane mitochondrial protein protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "P87|P89|HMP|MINOS2|Mic60|MICOS60" "mitofilin|mitochondrial inner membrane organizing system 2|heart muscle protein|mitochondrial contact site and cristae organizing system subunit 60" inner membrane protein, mitochondrial (mitofilin) "Mitochondrial contact site and cristae organizing system subunits|MicroRNA protein coding host genes" "1616|1691" 2000-03-09 2016-01-11 2018-11-16 10989 ENSG00000132305 OTTHUMG00000153170 uc002sqz.4 D21094 NM_006839 "CCDS46357|CCDS46356|CCDS46355" Q16891 "9168817|8039717" MGI:1923864 RGD:1310684 600378 470498 HGNC:6047 "ENST00000410111.8|NM_006839.3" +HGNC:6048 IMMTP1 inner membrane mitochondrial protein pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 mitofilin IMMTP inner membrane protein, mitochondrial (mitofilin) pseudogene 2000-05-23 2010-04-14 2016-01-11 2016-01-11 54045 ENSG00000229880 OTTHUMG00000086935 NG_000919 PGOHUM00000263062 HGNC:6048 +HGNC:14497 IMP3 IMP U3 small nucleolar ribonucleoprotein 3 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "FLJ10968|BRMS2" "MRPS4|C15orf12" "mitochondrial ribosomal protein S4|chromosome 15 open reading frame 12|IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)" MPP10 subcomplex 1486 2001-01-26 2005-07-14 2019-01-22 2019-01-22 55272 ENSG00000177971 OTTHUMG00000142840 uc002bat.3 AB051628 NM_018285 CCDS10282 Q9NV31 "11543634|12655004" MGI:1916119 RGD:1306825 612980 HGNC:14497 "ENST00000403490.3|NM_018285.4" +HGNC:49385 IMP3P1 IMP3 pseudogene 1 pseudogene pseudogene Approved 9p23 09p23 2013-10-22 2013-10-22 646087 ENSG00000230589 OTTHUMG00000019551 NG_021606 PGOHUM00000235962 HGNC:49385 +HGNC:49386 IMP3P2 IMP3 pseudogene 2 pseudogene pseudogene Approved 7q32.1 07q32.1 2013-10-22 2013-10-22 106480272 ENSG00000239722 OTTHUMG00000158273 NG_044038 PGOHUM00000233563 HGNC:49386 +HGNC:30856 IMP4 IMP U3 small nucleolar ribonucleoprotein 4 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "MGC19606|BXDC4" IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) MPP10 subcomplex 1486 2005-02-21 2019-01-22 2019-01-22 92856 ENSG00000136718 OTTHUMG00000131627 uc002tra.2 BC010042 NM_033416 CCDS2160 Q96G21 "8619474|9110174|12655004" MGI:106572 RGD:1308463 612981 HGNC:30856 "ENST00000259239.8|NM_033416.3" +HGNC:6050 IMPA1 inositol monophosphatase 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 myo-inositol monophosphatase 1 IMPA inositol(myo)-1(or 4)-monophosphatase 1 Phosphoinositide phosphatases 1079 1993-08-26 2016-04-05 2016-10-05 3612 ENSG00000133731 OTTHUMG00000164682 uc003ych.3 NM_005536 "CCDS6231|CCDS47883|CCDS47884" P29218 1377913 MGI:1933158 RGD:69254 602064 objectId:1463 3.1.3.25 HGNC:6050 "ENST00000256108.10|NM_005536.4" HGNC:6050 +HGNC:33956 IMPA1P1 inositol monophosphatase 1 pseudogene 1 pseudogene pseudogene Approved 8q21.13 08q21.13 IMPA1P inositol(myo)-1(or 4)-monophosphatase 1 pseudogene 2008-01-28 2016-04-05 2016-04-05 2016-04-05 650747 ENSG00000251521 OTTHUMG00000164680 NR_146081 PGOHUM00000257193 HGNC:33956 +HGNC:6051 IMPA2 inositol monophosphatase 2 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 myo-inositol monophosphatase 2 inositol(myo)-1(or 4)-monophosphatase 2 Phosphoinositide phosphatases 1079 1997-08-18 2016-04-05 2016-10-05 3613 ENSG00000141401 OTTHUMG00000131693 uc002kqp.3 AF014398 NM_014214 CCDS11855 O14732 9322233 MGI:2149728 RGD:628692 605922 objectId:1464 3.1.3.25 HGNC:6051 "ENST00000269159.8|NM_014214.3" +HGNC:20387 IMPACT impact RWD domain protein protein-coding gene gene with protein product Approved 18q11.2 18q11.2 RWDD5 RWD domain containing 5 Impact homolog (mouse) 2006-01-24 2012-12-07 2016-10-05 55364 ENSG00000154059 OTTHUMG00000131943 uc002kvh.5 AB026264 NM_018439 CCDS11886 Q9P2X3 11116084 MGI:1098233 RGD:1591977 615319 HGNC:20387 "ENST00000284202.9|NM_018439.4" +HGNC:6052 IMPDH1 inosine monophosphate dehydrogenase 1 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "sWSS2608|LCA11" RP10 "retinitis pigmentosa 10 (autosomal dominant)|IMP (inosine 5'-monophosphate) dehydrogenase 1" 1992-12-08 2016-06-21 2021-05-26 3614 ENSG00000106348 OTTHUMG00000157713 uc011kon.2 NM_000883 "CCDS43643|CCDS34748|CCDS34749|CCDS55161|CCDS47699|CCDS47700" P20839 "1969416|11875049|11875050" MGI:96567 RGD:1311108 Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene|http://www.retina-international.org/files/sci-news/impdhmut.htm 146690 122649 objectId:2624 1.1.1.205 HGNC:6052 "ENST00000338791.11|NM_000883.4" HGNC:6052 +HGNC:19912 IMPDH1P1 inosine monophosphate dehydrogenase 1 pseudogene 1 pseudogene pseudogene Approved 9p13.3 09p13.3 bA537H15.4 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 1 2005-10-04 2016-06-27 2020-04-20 340499 AL354989 NG_005146 HGNC:19912 +HGNC:33957 IMPDH1P2 inosine monophosphate dehydrogenase 1 pseudogene 2 pseudogene pseudogene Approved Xp11.4 Xp11.4 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 2 2008-01-28 2016-06-27 2020-04-06 402394 ENSG00000214045 OTTHUMG00000024101 NG_005150 PGOHUM00000304560 HGNC:33957 +HGNC:33958 IMPDH1P3 inosine monophosphate dehydrogenase 1 pseudogene 3 pseudogene pseudogene Approved 7q33 07q33 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 3 2008-01-28 2016-06-27 2016-10-11 136307 ENSG00000214815 OTTHUMG00000155791 NG_005144 HGNC:33958 +HGNC:33959 IMPDH1P4 inosine monophosphate dehydrogenase 1 pseudogene 4 pseudogene pseudogene Approved Xp11.3 Xp11.3 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 4 2008-01-28 2016-06-27 2020-04-20 139334 ENSG00000237206 OTTHUMG00000021385 NG_005145 PGOHUM00000241252 HGNC:33959 +HGNC:33960 IMPDH1P5 inosine monophosphate dehydrogenase 1 pseudogene 5 pseudogene pseudogene Approved 10q22.3 10q22.3 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 5 2008-01-28 2016-06-27 2016-08-17 340780 ENSG00000213513 OTTHUMG00000018544 NG_005147 PGOHUM00000289914 HGNC:33960 +HGNC:33961 IMPDH1P6 inosine monophosphate dehydrogenase 1 pseudogene 6 pseudogene pseudogene Approved 8q24.13 08q24.13 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 6 2008-01-28 2016-06-27 2017-10-26 392267 ENSG00000254294 OTTHUMG00000165092 NG_005149 PGOHUM00000303673 HGNC:33961 +HGNC:33962 IMPDH1P7 inosine monophosphate dehydrogenase 1 pseudogene 7 pseudogene pseudogene Approved 2q32.1 02q32.1 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 7 2008-01-28 2016-06-27 2020-01-08 391467 ENSG00000226553 NG_005148 HGNC:33962 +HGNC:33963 IMPDH1P8 inosine monophosphate dehydrogenase 1 pseudogene 8 pseudogene pseudogene Approved 3p25.1 03p25.1 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 8 2008-01-28 2016-06-27 2016-10-11 131961 ENSG00000224728 OTTHUMG00000156052 NG_005143 HGNC:33963 +HGNC:33964 IMPDH1P9 inosine monophosphate dehydrogenase 1 pseudogene 9 pseudogene pseudogene Approved 6p22.3 06p22.3 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 9 2008-01-28 2016-06-27 2020-04-06 441132 ENSG00000218976 OTTHUMG00000014320 NG_005151 PGOHUM00000301261 HGNC:33964 +HGNC:33965 IMPDH1P10 inosine monophosphate dehydrogenase 1 pseudogene 10 pseudogene pseudogene Approved 2q33.1 02q33.1 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 10 2008-01-28 2016-06-27 2016-06-27 100874399 ENSG00000232133 OTTHUMG00000154711 NG_032196 HGNC:33965 +HGNC:6054 IMPDH1P11 inosine monophosphate dehydrogenase 1 pseudogene 11 pseudogene pseudogene Approved 16p13.2 16p13.2 IMPDHL1 "IMP (inosine monophosphate) dehydrogenase-like 1|IMP (inosine monophosphate) dehydrogenase 1 pseudogene 11" 1993-06-23 2008-01-28 2016-06-27 2016-10-11 727833 ENSG00000261647 OTTHUMG00000177089 L19709 XR_015181 7905856 HGNC:6054 +HGNC:6053 IMPDH2 inosine monophosphate dehydrogenase 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 IMP (inosine 5'-monophosphate) dehydrogenase 2 1992-12-08 2016-06-21 2016-10-05 3615 ENSG00000178035 OTTHUMG00000156771 uc003cvt.4 NM_000884 CCDS2786 P12268 "9858805|1969416" MGI:109367 RGD:735092 146691 objectId:2625 1.1.1.205 HGNC:6053 "ENST00000326739.9|NM_000884.3" +HGNC:6055 IMPG1 interphotoreceptor matrix proteoglycan 1 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "IPM150|GP147" SPACR sialoprotein associated with cones and rods 1997-08-28 2004-05-25 2021-05-26 3617 ENSG00000112706 OTTHUMG00000015063 uc032xbg.2 AF017776 NM_001563 "CCDS4985|CCDS75483" Q17R60 MGI:1926876 RGD:620499 602870 376545 HGNC:6055 "ENST00000369950.8|NM_001563.4" HGNC:6055 +HGNC:18362 IMPG2 interphotoreceptor matrix proteoglycan 2 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "IPM200|RP56|SPACRCAN" 2002-03-15 2021-05-26 50939 ENSG00000081148 OTTHUMG00000159091 uc003duq.3 AF173155 NM_016247 CCDS2940 Q9BZV3 10542133 MGI:3044955 RGD:708358 607056 239001 HGNC:18362 "ENST00000193391.8|NM_016247.4" HGNC:18362 +HGNC:6057 INA internexin neuronal intermediate filament protein alpha protein-coding gene gene with protein product Approved 10q24.33 10q24.33 NF-66 NEF5 internexin neuronal intermediate filament protein, alpha Intermediate filaments Type IV 611 1999-03-24 2015-12-04 2016-10-05 9118 ENSG00000148798 OTTHUMG00000018986 uc001kws.3 S78296 NM_032727 CCDS7545 Q16352 7769995 MGI:96568 RGD:2911 605338 HGNC:6057 HGNC:6057 "ENST00000369849.9|NM_032727.4" +HGNC:27406 INAFM1 InaF motif containing 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 PRR24 proline rich 24 2009-09-11 2014-08-01 2016-02-15 2016-02-15 255783 ENSG00000257704 OTTHUMG00000170128 BC022076 NM_178511 CCDS46131 C9JVW0 12477932 MGI:1913550 RGD:2301983 HGNC:27406 "ENST00000552360.4|NM_178511.6" +HGNC:35165 INAFM2 InaF motif containing 2 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 OGU1 osteogenesis up-regulated transcript 1 LINC00984 "long intergenic non-protein coding RNA 984|InaF-motif containing 2" 2013-07-01 2014-08-01 2016-02-15 2016-02-15 100505573 ENSG00000259330 OTTHUMG00000172415 "AI125471|AI125670" NM_001301268 CCDS86448 P0DMQ5 19531736 MGI:1915354 RGD:11361547 HGNC:35165 "ENST00000638170.2|NM_001301268.2" +HGNC:25599 INAVA innate immunity activator protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ10901 C1orf106 chromosome 1 open reading frame 106 2005-06-03 2017-04-21 2017-04-21 2018-05-15 55765 ENSG00000163362 OTTHUMG00000035789 uc010ppm.3 "AK001763|BC106877" NM_018265 CCDS44292 Q3KP66 "28436939|29420262" MGI:1921579 RGD:1311892 618051 HGNC:25599 "ENST00000413687.3|NM_001142569.3" +HGNC:32224 INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 2009-04-20 2009-04-20 2010-03-19 388324 ENSG00000196388 OTTHUMG00000177768 uc002gam.3 "AY601906|AAT09152" NM_213726 "CCDS11064|CCDS54074" Q0VD86 "15159402|18756329" MGI:2144284 RGD:1306656 617374 HGNC:32224 +HGNC:6058 INCENP inner centromere protein protein-coding gene gene with protein product Approved 11q12.3 11q12.3 FLJ31633 "inner centromere protein antigens (135kD, 155kD)|inner centromere protein antigens 135/155kDa" Chromosomal passenger complex 1338 1988-06-09 2015-11-06 2015-11-06 3619 ENSG00000149503 OTTHUMG00000167470 uc001nsx.2 AF282265 NM_020238 "CCDS44624|CCDS31582" Q9NQS7 "1860899|11453556" MGI:1313288 RGD:1305292 604411 HGNC:6058 "ENST00000394818.8|NM_001040694.2" +HGNC:6060 INE1 inactivation escape 1 non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 NCRNA00010 non-protein coding RNA 10 inactivation escape 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 1999-07-07 2018-05-16 2020-04-02 8552 ENSG00000224975 OTTHUMG00000046428 uc004dhl.4 Y10696 NR_024616 O15225 9244435 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/INE1 300164 INE1 HGNC:6060 +HGNC:6061 INE2 inactivation escape 2 non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 NCRNA00011 non-protein coding RNA 11 inactivation escape 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 1999-07-07 2018-05-16 2018-05-16 8551 ENSG00000281371 OTTHUMG00000189580 uc004cxf.1 Y10697 NR_002725 9244435 300165 INE2 HGNC:6061 +HGNC:23791 INF2 inverted formin 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 MGC13251 "C14orf151|C14orf173" "chromosome 14 open reading frame 151|chromosome 14 open reading frame 173|inverted formin, FH2 and WH2 domain containing" "Armadillo like helical domain containing|Formins" "1492|2006" 2004-06-25 2007-11-29 2020-01-23 2021-05-26 64423 ENSG00000203485 OTTHUMG00000029811 uc001ypb.3 AK025709 NM_022489 "CCDS41999|CCDS45173|CCDS9989" Q27J81 16818491 MGI:1917685 RGD:1308350 610982 225380 HGNC:23791 "ENST00000392634.9|NM_022489.4" HGNC:23791 +HGNC:6062 ING1 inhibitor of growth family member 1 protein-coding gene gene with protein product Approved 13q34 13q34 "p33ING1|p33ING1b|p24ING1c|p33|p47|p47ING1a" "inhibitor of growth 1|tumor suppressor ING1|growth inhibitor ING1|growth inhibitory protein ING1" PHD finger proteins 88 1996-10-26 2015-11-09 2015-11-09 3621 ENSG00000153487 OTTHUMG00000017346 uc001vrh.5 NM_005537 "CCDS9518|CCDS9515|CCDS9517|CCDS9516" Q9UK53 "8944021|9186514" MGI:1349481 RGD:1306330 601566 122654 HGNC:6062 "ENST00000333219.9|NM_198219.3" HGNC:6062 +HGNC:6063 ING2 inhibitor of growth family member 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 p33ING2 ING1L inhibitor of growth family, member 1-like PHD finger proteins 88 1998-08-10 2005-02-11 2015-11-09 2015-11-09 3622 ENSG00000168556 OTTHUMG00000150502 uc003ivs.2 AB012853 NM_001564 CCDS3833 Q9H160 10072587 MGI:1916510 RGD:1307347 604215 HGNC:6063 "ENST00000302327.4|NM_001564.4" +HGNC:55723 ING2-DT ING2 divergent transcript non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 Divergent transcripts 1990 2021-07-13 2021-07-13 389247 ENSG00000232648 NR_033995 +HGNC:14587 ING3 inhibitor of growth family member 3 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 "p47ING3|FLJ20089|Eaf4|MEAF4" "PHD finger proteins|Tip60/Nua4 histone acetyltransferase complex subunits" "88|1634" 2001-02-09 2015-11-09 2016-10-05 54556 ENSG00000071243 OTTHUMG00000141270 uc003vjn.4 AF074968 NM_019071 "CCDS35497|CCDS5778" Q9NXR8 12080476 MGI:1919027 RGD:1310556 607493 HGNC:14587 "ENST00000315870.10|NM_019071.3" +HGNC:19423 ING4 inhibitor of growth family member 4 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "p29ING4|my036" PHD finger proteins 88 2002-10-30 2015-11-09 2016-10-05 51147 ENSG00000111653 OTTHUMG00000141274 uc001qpv.5 AF063594 NM_198287 "CCDS44813|CCDS44814|CCDS44815|CCDS44816|CCDS44812|CCDS8555" Q9UNL4 12750254 MGI:107307 RGD:1309407 608524 HGNC:19423 "ENST00000341550.9|NM_016162.4" +HGNC:19421 ING5 inhibitor of growth family member 5 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ23842|p28ING5" PHD finger proteins 88 2002-10-30 2015-11-09 2015-11-09 84289 ENSG00000168395 OTTHUMG00000151501 uc002wcd.4 AF189286 NM_032329 "CCDS33425|CCDS82586|CCDS82585" Q8WYH8 12750254 MGI:1922816 RGD:1307908 608525 HGNC:19421 "ENST00000313552.11|NM_032329.6" +HGNC:6064 INGX inhibitor of growth family, X-linked (pseudogene) pseudogene pseudogene Approved Xq13.1 Xq13.1 ING1-like ING2 inhibitor of growth family, member 2 2000-01-20 2005-02-11 2016-01-06 2016-10-05 27160 ENSG00000243468 OTTHUMG00000024051 AF149724 NR_002226 10626813 300452 PGOHUM00000241382 HGNC:6064 +HGNC:6065 INHA inhibin subunit alpha protein-coding gene gene with protein product Approved 2q35 02q35 inhibin, alpha Inhibin subunits 1662 2001-06-22 2018-04-23 2018-04-23 3623 ENSG00000123999 OTTHUMG00000059237 uc002vmk.3 NM_002191 CCDS2444 P05111 3345731 MGI:96569 RGD:2912 147380 470500 ligandId:5005 HGNC:6065 "ENST00000243786.3|NM_002191.4" +HGNC:6066 INHBA inhibin subunit beta A protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "inhibin, beta A (activin A, activin AB alpha polypeptide)|inhibin, beta A" Inhibin subunits 1662 1986-01-01 2018-04-23 2018-04-23 3624 ENSG00000122641 OTTHUMG00000023574 uc003thr.4 NM_002192 CCDS5464 P08476 3345731 MGI:96570 RGD:62074 147290 395930 ligandId:5006 HGNC:6066 "ENST00000242208.5|NM_002192.4" +HGNC:40303 INHBA-AS1 INHBA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 INHBA antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-02 2012-08-15 2017-04-26 285954 ENSG00000224116 OTTHUMG00000155114 uc003tht.5 NR_027118 28423525 INHBA-AS1 HGNC:40303 +HGNC:6067 INHBB inhibin subunit beta B protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "inhibin, beta B (activin AB beta polypeptide)|inhibin, beta B" Inhibin subunits 1662 1986-01-01 2018-04-23 2018-04-23 3625 ENSG00000163083 OTTHUMG00000131437 uc002tmn.3 NM_002193 CCDS2132 P09529 3345731 MGI:96571 RGD:2913 147390 470502 ligandId:5007 HGNC:6067 "ENST00000295228.4|NM_002193.4" +HGNC:6068 INHBC inhibin subunit beta C protein-coding gene gene with protein product Approved 12q13.3 12q13.3 inhibin, beta C Inhibin subunits 1662 1995-08-29 2018-04-23 2018-04-23 3626 ENSG00000175189 OTTHUMG00000169994 uc001snv.3 NM_005538 CCDS8938 P55103 7826378 MGI:105932 RGD:621194 601233 ligandId:5008 HGNC:6068 "ENST00000309668.3|NM_005538.4" +HGNC:24029 INHBE inhibin subunit beta E protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "activin|MGC4638" inhibin, beta E Inhibin subunits 1662 2004-01-12 2018-04-23 2018-04-23 83729 ENSG00000139269 OTTHUMG00000169995 uc001snw.4 NM_031479 CCDS8939 P58166 12242034 MGI:109269 RGD:621196 612031 ligandId:5009 HGNC:24029 "ENST00000266646.3|NM_031479.5" +HGNC:11759 INHCAP inhibitor of carbonic anhydrase pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 "TFP|TFP1" "transferrin pseudogene|transferrin pseudogene 1" Transferrins 908 2001-06-22 2018-12-06 2018-12-06 2018-12-06 100129696 ENSG00000242337 OTTHUMG00000159751 M22375 NG_008673 HGNC:11759 +HGNC:24994 INIP INTS3 and NABP interacting protein protein-coding gene gene with protein product Approved 9q32 09q32 "HSPC043|hSSBIP1|SOSS-C|MISE" "hSSB-interacting protein 1|sensor of single-strand DNA complex subunit C|minute INTS3/hSSB-associated element" C9orf80 chromosome 9 open reading frame 80 2004-01-29 2012-06-19 2012-06-19 2014-11-19 58493 ENSG00000148153 OTTHUMG00000020509 uc004bgg.4 AF161411 NM_021218 "CCDS87676|CCDS6785" Q9NRY2 11042152 MGI:1913459 RGD:1307983 613273 HGNC:24994 "ENST00000374242.9|NM_021218.3" +HGNC:32480 INKA1 inka box actin regulator 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Induced in Neural Crest by AP-2alpha "C3orf54|FAM212A" "chromosome 3 open reading frame 54|family with sequence similarity 212, member A|family with sequence similarity 212 member A" 2006-02-01 2018-04-20 2018-04-20 2018-04-20 389119 ENSG00000185614 OTTHUMG00000158268 uc003cxq.1 BC012170 NM_203370 CCDS2804 Q96EL1 "20175189|26607847" MGI:1915426 RGD:1560778 HGNC:32480 "ENST00000333323.6|NM_203370.2" +HGNC:28045 INKA2 inka box actin regulator 2 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 FLJ31105 "C1orf183|FAM212B" "chromosome 1 open reading frame 183|family with sequence similarity 212, member B|family with sequence similarity 212 member B" 2005-08-02 2018-04-20 2018-04-20 2018-04-20 55924 ENSG00000197852 OTTHUMG00000011953 uc001ebo.2 AK055667 NM_019099 CCDS841 Q9NTI7 26292052 MGI:1923497 RGD:1306526 HGNC:28045 "ENST00000357260.6|NM_019099.5" +HGNC:49446 INKA2-AS1 INKA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 FAM212B-AS1 FAM212B antisense RNA 1 Antisense RNAs 1987 2013-12-03 2018-04-20 2018-04-20 2018-04-20 100506343 ENSG00000227811 OTTHUMG00000011954 NR_038951 FAM212B-AS1 HGNC:49446 +HGNC:6069 INMT indolethylamine N-methyltransferase protein-coding gene gene with protein product Approved 7p14.3 07p14.3 7BS small molecule methyltransferases 2063 1999-09-07 2015-08-25 11185 ENSG00000241644 OTTHUMG00000167163 uc003tbs.1 NM_006774 "CCDS5430|CCDS56479" O95050 10552930 MGI:102963 RGD:1597087 604854 2.1.1.49 HGNC:6069 "ENST00000013222.5|NM_006774.5" +HGNC:41995 INMT-MINDY4 INMT-MINDY4 readthrough (NMD candidate) other readthrough Approved 7p14.3 07p14.3 INMT-FAM188B INMT-FAM188B readthrough (NMD candidate) 2011-05-31 2017-01-31 2017-01-31 2017-01-31 100526825 ENSG00000254959 OTTHUMG00000022897 uc064con.1 NR_037598.1 HGNC:41995 +HGNC:26956 INO80 INO80 complex ATPase subunit protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "KIAA1259|hINO80|INO80A" INO80 complex subunit A INOC1 "INO80 complex homolog 1 (S. cerevisiae)|INO80 homolog (S. cerevisiae)" "INO80 complex |DNA helicases" "595|1167" 2005-10-30 2008-08-07 2019-04-10 2021-05-26 54617 ENSG00000128908 OTTHUMG00000130209 uc001zni.5 AB033085 NM_017553 CCDS10071 Q9ULG1 "16298340|16230350|20237820" MGI:1915392 RGD:1310969 LRG_1233|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1233.xml 610169 470504 3.6.1.3 HGNC:26956 "ENST00000648947.1|NM_017553.3" HGNC:26956 +HGNC:53138 INO80-AS1 INO80 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 ENST00000560178 Antisense RNAs 1987 2017-02-16 2017-02-16 109729177 ENSG00000259521 OTTHUMG00000172515 NR_170322 27816668 +HGNC:13324 INO80B INO80 complex subunit B protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "HMGIYL4|PAPA-1|hIes2|PAP-1BP|IES2" "PAP-1 binding protein|IES2 homolog (S. cerevisiae)" "HMGA1L4|ZNHIT4" "high mobility group AT-hook 1-like 4|zinc finger, HIT type 4" "Zinc fingers HIT-type|INO80 complex " "83|595" 2003-11-26 2008-08-07 2008-08-07 2014-11-19 83444 ENSG00000115274 OTTHUMG00000129959 uc002slg.3 AB054538 NM_031288 CCDS1942 Q9C086 16230350 MGI:1917270 RGD:1562258 616456 HGNC:13324 "ENST00000233331.12|NM_031288.4" +HGNC:49199 INO80B-WBP1 INO80B-WBP1 readthrough (NMD candidate) other readthrough Approved 2p13.1 02p13.1 2013-09-30 2013-09-30 2015-07-22 100532735 ENSG00000274049 OTTHUMG00000187278 NR_037849 HGNC:49199 +HGNC:26994 INO80C INO80 complex subunit C protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "FLJ38183|hIes6|IES6" IES6 homolog (S. cerevisiae) C18orf37 chromosome 18 open reading frame 37 INO80 complex 595 2004-06-02 2008-08-07 2008-08-07 2014-11-19 125476 ENSG00000153391 OTTHUMG00000132564 uc002kyy.5 NM_194281 "CCDS11914|CCDS45853|CCDS77177" Q6PI98 16230350 MGI:2443014 RGD:1310199 HGNC:26994 "ENST00000334598.12|NM_194281.4" +HGNC:25997 INO80D INO80 complex subunit D protein-coding gene gene with protein product Approved 2q33.3 02q33.3 FLJ20309 INO80 complex 595 2008-08-07 2018-06-14 54891 ENSG00000114933 OTTHUMG00000154649 uc002vaz.4 NM_017759 CCDS46500 Q53TQ3 16230350 MGI:3027003 RGD:1304808 619207 HGNC:25997 "ENST00000403263.6|NM_017759.5" +HGNC:55803 INO80D-AS2 INO80D antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 Antisense RNAs 1987 2021-07-29 2022-03-30 2022-03-30 2022-03-30 122152328 ENSG00000227946 MGI:3651861 +HGNC:26905 INO80E INO80 complex subunit E protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ90652 CCDC95 coiled-coil domain containing 95 INO80 complex 595 2006-03-24 2008-08-07 2008-08-07 2014-11-18 283899 ENSG00000169592 OTTHUMG00000132114 uc002dvg.2 AK075133 NM_173618 "CCDS10665|CCDS76853" Q8NBZ0 16230350 MGI:2141881 RGD:1359572 HGNC:26905 "ENST00000563197.6|NM_173618.3" +HGNC:6071 INPP1 inositol polyphosphate-1-phosphatase protein-coding gene gene with protein product Approved 2q32.2 02q32.2 Phosphoinositide phosphatases 1079 1993-10-14 2016-10-05 3628 ENSG00000151689 OTTHUMG00000132672 uc002ury.5 NM_001128928 CCDS2305 P49441 8390685 MGI:104848 RGD:1306071 147263 objectId:1450 3.1.3.57 HGNC:6071 "ENST00000392329.7|NM_001128928.2" +HGNC:6074 INPP4A inositol polyphosphate-4-phosphatase type I A protein-coding gene gene with protein product Approved 2q11.2 02q11.2 Type I inositol 3,4-bisphosphate 4-phosphatase INPP4 "inositol polyphosphate-4-phosphatase, type I, 107kD|inositol polyphosphate-4-phosphatase, type I, 107kDa" C2 domain containing 823 1993-10-14 2015-08-13 2022-02-18 3631 ENSG00000040933 OTTHUMG00000153106 uc010yvk.3 U26398 NM_001566 "CCDS46372|CCDS46369|CCDS46371|CCDS46370" Q96PE3 "7608176|9295334|10702694" MGI:1931123 RGD:68386 600916 objectId:1451 3.1.3.66 HGNC:6074 "ENST00000409851.8|NM_001134225.2" +HGNC:6075 INPP4B inositol polyphosphate-4-phosphatase type II B protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "inositol polyphosphate-4-phosphatase, type II, 105kD|inositol polyphosphate-4-phosphatase, type II, 105kDa" "C2 domain containing|Phosphoinositide phosphatases" "823|1079" 1998-12-23 2015-08-13 2016-10-11 8821 ENSG00000109452 OTTHUMG00000161341 uc003iix.5 U96922 NM_003866 "CCDS3757|CCDS82958" O15327 9295334 MGI:2158925 RGD:620470 607494 objectId:1452 3.1.3.66 HGNC:6075 "ENST00000262992.9|NM_001101669.3" +HGNC:6076 INPP5A inositol polyphosphate-5-phosphatase A protein-coding gene gene with protein product Approved 10q26.3 10q26.3 5PTASE "CTCL tumor antigen HD-CL-02|43 kDa inositol polyphosphate 5-phophatase|inositol polyphosphate 5-phophatase, 40kDa|InsP3 5-phosphatase|type I inositol-1,4,5-trisphosphate 5-phosphatase" "inositol polyphosphate-5-phosphatase, 40kD|inositol polyphosphate-5-phosphatase, 40kDa" Phosphoinositide phosphatases 1079 1993-10-14 2015-08-13 2015-08-25 3632 ENSG00000068383 OTTHUMG00000019293 uc001llp.4 X77567 NM_005539 CCDS7669 Q14642 8013665 MGI:2686961 RGD:1306168 600106 objectId:1453 3.1.3.56 HGNC:6076 "ENST00000368594.8|NM_005539.5" +HGNC:6077 INPP5B inositol polyphosphate-5-phosphatase B protein-coding gene gene with protein product Approved 1p34.3 01p34.3 type II inositol 1,4,5-trisphosphate 5-phosphatase "inositol polyphosphate-5-phosphatase, 75kD|inositol polyphosphate-5-phosphatase, 75kDa" Phosphoinositide phosphatases 1079 1993-10-14 2015-08-13 2016-10-05 3633 ENSG00000204084 OTTHUMG00000004436 uc001ccg.2 M74161 NM_005540 "CCDS72760|CCDS41306" P32019 1718960 MGI:103257 RGD:1311511 147264 objectId:1454 3.1.3.56 HGNC:6077 "ENST00000373024.8|NM_005540.3" +HGNC:6079 INPP5D inositol polyphosphate-5-phosphatase D protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "SHIP|hp51CN|SHIP1" SH2 domain-containing inositol 5'-phosphatase 1 "inositol polyphosphate-5-phosphatase, 145kD|inositol polyphosphate-5-phosphatase, 145kDa" "SH2 domain containing|Phosphoinositide phosphatases" "741|1079" 1996-04-04 2015-08-13 2015-08-13 3635 ENSG00000168918 OTTHUMG00000133688 uc032ovq.2 U57650 NM_001017915 "CCDS74672|CCDS77543" Q92835 "8643691|8874179" MGI:107357 RGD:2914 601582 objectId:1455 3.1.3.86 HGNC:6079 "ENST00000445964.6|NM_001017915.3" +HGNC:21474 INPP5E inositol polyphosphate-5-phosphatase E protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "PPI5PIV|CORS1|pharbin" Phosphatidylinositol polyphosphate 5-phosphatase type IV JBTS1 "Joubert syndrome 1|inositol polyphosphate-5-phosphatase, 72 kDa" Phosphoinositide phosphatases 1079 2003-06-13 2015-08-13 2022-01-18 56623 ENSG00000148384 OTTHUMG00000020927 uc004cho.4 AF187891 NM_019892 CCDS7000 Q9NRR6 "10764818|10577920|19668216" MGI:1927753 RGD:620478 613037 208347 objectId:1456 3.1.3.36 HGNC:21474 "ENST00000371712.4|NM_019892.6" HGNC:21474 +HGNC:17054 INPP5F inositol polyphosphate-5-phosphatase F protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "SAC2|KIAA0966|hSac2" "Phosphatidylinositide phosphatase SAC2|Sac domain-containing inositol phosphatase 2|Sac domain-containing phosphoinositide 4-phosphatase 2" Phosphoinositide phosphatases 1079 2003-06-10 2022-02-21 22876 ENSG00000198825 OTTHUMG00000019158 uc001leo.4 AB023183 NM_014937 "CCDS81513|CCDS58098|CCDS7616" Q9Y2H2 "11274189|25869669|25869668" MGI:2141867 RGD:1305777 LRG_1061|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1061.xml 609389 3.1.3.25 HGNC:17054 "ENST00000650623.2|NM_014937.4" +HGNC:8956 INPP5J inositol polyphosphate-5-phosphatase J protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "INPP5|PIPP" PIB5PA phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A Phosphoinositide phosphatases 1079 2000-01-12 2008-09-09 2008-09-09 2016-10-07 27124 ENSG00000185133 OTTHUMG00000151206 uc003ajt.5 U45975 NM_001002837 "CCDS74847|CCDS46687|CCDS63455|CCDS63454|CCDS63453" Q15735 10591208 MGI:2158663 RGD:620541 606481 objectId:1457 3.1.3.56 HGNC:8956 "ENST00000331075.10|NM_001284285.2" +HGNC:33882 INPP5K inositol polyphosphate-5-phosphatase K protein-coding gene gene with protein product Approved 17p13.3 17p13.3 SKIP skeletal muscle and kidney enriched inositol phosphatase Phosphoinositide phosphatases 1079 2008-09-09 2015-08-25 51763 ENSG00000132376 OTTHUMG00000150648 uc002fsr.4 NM_016532 "CCDS11005|CCDS11004" Q9BT40 "10753883|12536145" MGI:1194899 RGD:1359130 607875 objectId:1458 3.1.3.56 HGNC:33882 "ENST00000421807.7|NM_016532.4" HGNC:33882 +HGNC:6080 INPPL1 inositol polyphosphate phosphatase like 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 SHIP2 "51C protein|SH2 domain-containing inositol 5'-phosphatase 2|phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2" "SH2 domain containing|Sterile alpha motif domain containing|Phosphoinositide phosphatases" "741|760|1079" 1995-05-12 2015-11-23 2016-10-07 3636 ENSG00000165458 OTTHUMG00000167879 uc001osf.4 Y14385 NM_001567 CCDS8213 O15357 8530088 MGI:1333787 RGD:68396 600829 323427 objectId:1459 3.1.3.86 HGNC:6080 "ENST00000298229.7|NM_001567.4" HGNC:6080 +HGNC:6081 INS insulin protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "IDDM2|IDDM1" insulin-dependent diabetes mellitus 2 Neuropeptides 1902 2001-06-22 2015-09-02 3630 ENSG00000254647 OTTHUMG00000009558 uc001lvo.2 X70508 NM_000207 CCDS7729 P01308 "6243748|7773291" MGI:96573 RGD:2916 176730 168345 ligandId:6145 HGNC:6081 "ENST00000381330.5|NM_000207.3" HGNC:6081 +HGNC:33527 INS-IGF2 INS-IGF2 readthrough other readthrough Approved 11p15.5 11p15.5 2011-03-23 2014-11-19 723961 ENSG00000129965 OTTHUMG00000166213 uc001lvm.4 DQ104205 NM_001042376.2 CCDS41598 F8WCM5 16531418 "MGI:96572|MGI:96573" RGD:2915 HGNC:33527 +HGNC:33116 INSC INSC spindle orientation adaptor protein protein-coding gene gene with protein product Approved 11p15.2 11p15.2 inscuteable spindle orientation adaptor protein inscuteable homolog (Drosophila) Armadillo like helical domain containing 1492 2006-08-17 2019-01-21 2019-01-21 387755 ENSG00000188487 OTTHUMG00000165838 uc001mly.5 AB231744 NM_001031853 "CCDS41621|CCDS41622|CCDS60735|CCDS60736" Q1MX18 16458856 MGI:1917942 RGD:1311379 610668 HGNC:33116 "ENST00000379556.8|NM_001042536.3" +HGNC:6083 INSIG1 insulin induced gene 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "CL-6|MGC1405" INSIG-1 membrane protein 1997-05-15 2016-10-05 3638 ENSG00000186480 OTTHUMG00000151330 uc003wly.3 NM_198336 "CCDS5938|CCDS5939" O15503 9268630 MGI:1916289 RGD:708457 602055 HGNC:6083 "ENST00000340368.9|NM_005542.6" +HGNC:55155 INSIG1-DT INSIG1 divergent transcript non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Divergent transcripts 1990 2020-07-15 2020-07-15 105375591 ENSG00000273117 XR_928234 +HGNC:20452 INSIG2 insulin induced gene 2 protein-coding gene gene with protein product Approved 2q14.1-q14.2 02q14.1-q14.2 2003-02-17 2018-02-13 51141 ENSG00000125629 OTTHUMG00000058518 uc002tlk.4 AF527632 NM_016133 CCDS2122 Q9Y5U4 12242332 MGI:1920249 RGD:631417 608660 HGNC:20452 "ENST00000245787.9|NM_016133.4" +HGNC:6086 INSL3 insulin like 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "RLF|MGC119818|MGC119819" prepro-INSL3 RLNL "relaxin-like factor|insulin-like 3 (Leydig cell)" Receptor ligands 542 1993-11-02 2015-11-23 2018-03-22 3640 ENSG00000248099 OTTHUMG00000183481 uc002nhm.3 NM_005543 "CCDS12365|CCDS58655" P51460 8020942 MGI:108427 RGD:620117 146738 ligandId:3749 HGNC:6086 "ENST00000317306.8|NM_005543.4" HGNC:6086 +HGNC:6087 INSL4 insulin like 4 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 EPIL insulin-like 4 (placenta) 1995-07-14 2015-11-23 2016-10-05 3641 ENSG00000120211 OTTHUMG00000019494 uc003ziy.4 NM_002195 CCDS6459 Q14641 "8666396|9730618" MGI:97931 600910 HGNC:6087 "ENST00000239316.4|NM_002195.2" +HGNC:6088 INSL5 insulin like 5 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 prepro-INSL5 insulin-like 5 Receptor ligands 542 1999-01-08 2015-11-23 2015-11-23 10022 ENSG00000172410 OTTHUMG00000009164 uc001dcw.4 AF133816 NM_005478 CCDS634 Q9Y5Q6 10458910 MGI:1346085 RGD:7747960 606413 ligandId:3751 HGNC:6088 "ENST00000304526.3|NM_005478.6" +HGNC:6089 INSL6 insulin like 6 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 RIF1 relaxin/insulin-like factor 1 insulin-like 6 1999-09-09 2015-11-23 2016-10-05 11172 ENSG00000120210 OTTHUMG00000019489 uc003zix.4 AF156094 NM_007179 CCDS6458 Q9Y581 10819760 MGI:1351595 RGD:62061 606414 HGNC:6089 "ENST00000381641.4|NM_007179.3" +HGNC:6090 INSM1 INSM transcriptional repressor 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "IA-1|IA1" "insulinoma-associated 1|insulinoma associated 1" SNAG transcriptional repressors 1259 1995-01-03 2016-05-04 2016-10-05 3642 ENSG00000173404 OTTHUMG00000032004 uc002wrx.4 NM_002196 CCDS13143 Q01101 "8188699|16569215" MGI:1859980 RGD:6486258 600010 HGNC:6090 "ENST00000310227.3|NM_002196.3" +HGNC:17539 INSM2 INSM transcriptional repressor 2 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "IA-6|Mlt1" insulinoma-associated 2 "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 2003-01-14 2016-05-04 2016-10-11 84684 ENSG00000168348 OTTHUMG00000140223 uc001wth.1 AF260323 NM_032594 CCDS9657 Q96T92 21343251 MGI:1930787 RGD:1306949 614027 HGNC:17539 "ENST00000307169.4|NM_032594.4" +HGNC:6091 INSR insulin receptor protein-coding gene gene with protein product Approved 19p13.2 19p13.2 CD220 "Receptor tyrosine kinases|CD molecules|Fibronectin type III domain containing" "321|471|555" 1986-01-01 2021-05-26 3643 ENSG00000171105 OTTHUMG00000181992 uc002mgd.2 M10051 NM_000208 "CCDS42487|CCDS12176" P06213 2983222 MGI:96575 RGD:2917 147670 122664 objectId:1800 CD220 HGNC:6091 "ENST00000302850.10|NM_000208.4" HGNC:6091 +HGNC:6093 INSRR insulin receptor related receptor protein-coding gene gene with protein product Approved 1q23.1 01q23.1 IRR "Receptor tyrosine kinases|Fibronectin type III domain containing" "321|555" 1990-05-18 2016-04-05 2016-10-05 3645 ENSG00000027644 OTTHUMG00000041291 uc010pht.3 J05046 NM_014215 CCDS1160 P14616 "2768234|2249481" MGI:1346037 RGD:67399 147671 objectId:1802 HGNC:6093 "ENST00000368195.4|NM_014215.3" HGNC:6093 +HGNC:33753 INSYN1 inhibitory synaptic factor 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "MGC131524|LOC388135" inhibitory synaptic protein 1 C15orf59 chromosome 15 open reading frame 59 2008-07-10 2018-05-25 2018-05-25 2018-05-25 388135 ENSG00000205363 OTTHUMG00000172556 uc002avy.4 NM_001039614 CCDS32289 Q2T9L4 "25048349|27609886" MGI:2442108 RGD:1562618 617128 HGNC:33753 "ENST00000569673.3|NM_001039614.3" +HGNC:51422 INSYN1-AS1 INSYN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 TCONS_00023459 C15orf59-AS1 C15orf59 antisense RNA 1 Antisense RNAs 1987 2014-11-21 2018-06-01 2018-06-01 2018-06-01 101929221 ENSG00000260469 OTTHUMG00000172684 NR_120352 C15orf59-AS1 HGNC:51422 +HGNC:33859 INSYN2A inhibitory synaptic factor 2A protein-coding gene gene with protein product Approved 10q26.2 10q26.2 FLJ45557 inhibitory synaptic protein 2 "C10orf141|FAM196A|INSYN2" "chromosome 10 open reading frame 141|family with sequence similarity 196, member A|family with sequence similarity 196 member A" 2007-12-14 2019-02-11 2018-05-25 2019-08-20 642938 ENSG00000188916 OTTHUMG00000019248 uc001ljv.2 NM_001039762 CCDS31312 Q6ZSG2 27609886 MGI:3605068 RGD:2302685 617129 HGNC:33859 "ENST00000522781.6|NM_001039762.3" +HGNC:37271 INSYN2B inhibitory synaptic factor family member 2B protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "C5orf57|FAM196B" "chromosome 5 open reading frame 57|family with sequence similarity 196, member B|family with sequence similarity 196 member B" 2009-09-09 2018-05-25 2018-05-25 2018-05-25 100131897 ENSG00000204767 OTTHUMG00000163083 uc003mag.3 NM_001129891 CCDS47336 A6NMK8 MGI:3643491 RGD:2320105 HGNC:37271 "ENST00000377365.4|NM_001129891.3" +HGNC:24555 INTS1 integrator complex subunit 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "DKFZp586J0619|KIAA1440|INT1|NET28" "Integrator complex|Armadillo like helical domain containing" "1366|1492" 2006-03-15 2015-08-25 26173 ENSG00000164880 OTTHUMG00000151449 uc003skn.3 AB037861 NM_001080453 CCDS47526 Q8N201 16239144 MGI:1915760 RGD:1308908 611345 HGNC:24555 "ENST00000404767.8|NM_001080453.3" HGNC:24555 +HGNC:29241 INTS2 integrator complex subunit 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 INT2 KIAA1287 KIAA1287 Integrator complex 1366 2005-07-26 2006-03-15 2006-03-15 2019-08-20 57508 ENSG00000108506 OTTHUMG00000179234 uc002izm.4 AB033113 NM_020748 "CCDS82181|CCDS45750" Q9H0H0 16239144 MGI:1917672 RGD:1305547 611346 HGNC:29241 "ENST00000251334.7|NM_001351695.2" +HGNC:26153 INTS3 integrator complex subunit 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "FLJ21919|INT3|SOSS-A" sensor of single-strand DNA complex subunit A C1orf60 chromosome 1 open reading frame 60 Integrator complex 1366 2005-05-13 2006-03-15 2006-03-15 2014-11-19 65123 ENSG00000143624 OTTHUMG00000037089 uc001fct.4 BX640950 NM_023015 CCDS1052 Q68E01 16239144 MGI:2140050 RGD:1304593 611347 HGNC:26153 "ENST00000318967.7|NM_023015.5" +HGNC:25048 INTS4 integrator complex subunit 4 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "INT4|MGC16733|MST093" "Integrator complex|Armadillo like helical domain containing" "1366|1492" 2006-03-15 2014-11-19 92105 ENSG00000149262 OTTHUMG00000166629 uc001oys.4 BC015664 NM_033547 CCDS31644 Q96HW7 16239144 MGI:1917164 RGD:1305036 611348 HGNC:25048 "ENST00000534064.6|NM_033547.4" +HGNC:21925 INTS4P1 integrator complex subunit 4 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 FLJ25037 INTS4L1 integrator complex subunit 4-like 1 2008-10-21 2014-10-01 2014-10-01 2014-10-01 285905 ENSG00000164669 OTTHUMG00000156510 XR_041315 PGOHUM00000302754 HGNC:21925 +HGNC:22351 INTS4P2 integrator complex subunit 4 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 MGC133166 INTS4L2 integrator complex subunit 4-like 2 2008-10-21 2014-10-01 2014-10-01 2015-02-02 644619 ENSG00000273024 OTTHUMG00000156558 BC111554 NR_027392 PGOHUM00000302764 HGNC:22351 +HGNC:29352 INTS5 integrator complex subunit 5 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 INT5 KIAA1698 KIAA1698 "Integrator complex|Armadillo like helical domain containing" "1366|1492" 2005-10-28 2006-03-15 2006-03-15 2014-11-19 80789 ENSG00000185085 OTTHUMG00000167605 uc001nud.3 AK123587 NM_030628 CCDS8027 Q6P9B9 16239144 MGI:1923578 RGD:1309370 611349 HGNC:29352 "ENST00000330574.2|NM_030628.2" +HGNC:14879 INTS6 integrator complex subunit 6 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "DICE1|HDB|Notchl2|DBI-1|DDX26A|INT6" DDX26 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26 Integrator complex 1366 2001-03-30 2006-03-15 2006-03-15 2014-11-18 26512 ENSG00000102786 OTTHUMG00000016945 uc001vfk.4 AF097645 NM_012141 "CCDS9428|CCDS76636|CCDS45048|CCDS41890" Q9UL03 "10467397|16239144" MGI:1202397 RGD:1309480 604331 470506 HGNC:14879 "ENST00000311234.9|NM_012141.3" +HGNC:42691 INTS6-AS1 INTS6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 INTS6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-30 2012-08-15 2014-11-19 100507398 ENSG00000236778 OTTHUMG00000016944 uc058xef.1 AA397528 NR_103812 INTS6-AS1 HGNC:42691 +HGNC:27334 INTS6L integrator complex subunit 6 like protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 FLJ41215 DDX26B DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B Integrator complex 1366 2004-08-10 2016-01-07 2016-01-07 2016-10-05 203522 ENSG00000165359 OTTHUMG00000022484 uc004eyw.5 AK096544 NM_182540 "CCDS87784|CCDS35401" Q5JSJ4 MGI:2442593 RGD:1592872 HGNC:27334 "ENST00000639893.2|NM_001351601.3" +HGNC:41180 INTS6L-AS1 INTS6L antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 DDX26B-AS1 "DDX26B antisense RNA 1 (non-protein coding)|DDX26B antisense RNA 1" Antisense RNAs 1987 2011-08-10 2016-01-07 2016-01-07 2021-08-16 100874118 ENSG00000225235 OTTHUMG00000022483 uc033ewb.1 NR_046740 INTS6L-AS1 HGNC:41180 +HGNC:43921 INTS6P1 integrator complex subunit 6 pseudogene 1 pseudogene pseudogene Approved 5p13.1 05p13.1 2012-05-04 2012-05-04 285634 ENSG00000250492 OTTHUMG00000162069 NG_021845 PGOHUM00000235198 HGNC:43921 +HGNC:24484 INTS7 integrator complex subunit 7 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "DKFZP434B168|INT7" C1orf73 chromosome 1 open reading frame 73 "Integrator complex|Armadillo like helical domain containing" "1366|1492" 2005-05-19 2006-03-15 2006-03-15 2014-11-18 25896 ENSG00000143493 OTTHUMG00000037119 uc001hiw.3 AK022509 NM_015434 "CCDS1501|CCDS55683|CCDS55684|CCDS55685" Q9NVH2 16239144 MGI:1924315 RGD:1308014 611350 HGNC:24484 "ENST00000366994.8|NM_015434.4" +HGNC:26048 INTS8 integrator complex subunit 8 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "FLJ20530|INT8|MGC131633" C8orf52 chromosome 8 open reading frame 52 Integrator complex 1366 2005-08-30 2006-03-15 2006-03-15 2014-11-19 55656 ENSG00000164941 OTTHUMG00000164695 uc003yhb.5 AK091278 NM_017864 CCDS34925 Q75QN2 16239144 MGI:1919906 RGD:1310592 611351 HGNC:26048 "ENST00000523731.6|NM_017864.4" HGNC:26048 +HGNC:25592 INTS9 integrator complex subunit 9 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "FLJ10871|CPSF2L|RC-74" "Integrator complex|MBL fold containing DNA/RNA interacting subfamily" "1366|1615" 2007-07-31 2015-08-25 55756 ENSG00000104299 OTTHUMG00000164030 uc003xha.4 BC025267 NM_018250 "CCDS34873|CCDS55216|CCDS55215" Q9NV88 16239144 MGI:1098533 RGD:1311539 611352 HGNC:25592 "ENST00000521022.6|NM_018250.4" +HGNC:53139 INTS9-AS1 INTS9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p21.1 08p21.1 ENST00000520055 Antisense RNAs 1987 2017-02-16 2017-02-16 109729178 ENSG00000254034 OTTHUMG00000164031 27816668 +HGNC:25548 INTS10 integrator complex subunit 10 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "FLJ10569|INT10" C8orf35 chromosome 8 open reading frame 35 Integrator complex 1366 2005-07-22 2006-03-15 2006-03-15 2014-11-19 55174 ENSG00000104613 OTTHUMG00000131065 uc003wzj.4 AK001431 NM_018142 CCDS6011 Q9NVR2 16239144 MGI:1918135 RGD:1304711 611353 HGNC:25548 "ENST00000397977.8|NM_018142.4" +HGNC:26052 INTS11 integrator complex subunit 11 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "FLJ20542|RC-68|CPSF73L|INT11" CPSF3L cleavage and polyadenylation specific factor 3-like "Integrator complex|MBL fold containing DNA/RNA interacting subfamily|MicroRNA protein coding host genes" "1366|1615|1691" 2005-05-19 2016-12-15 2016-12-15 2016-12-15 54973 ENSG00000127054 OTTHUMG00000003330 uc001aee.3 AL136813 NM_017871 "CCDS72678|CCDS57959|CCDS57961|CCDS21|CCDS57960" Q5TA45 "15684398|16239144" MGI:1919207 RGD:1306841 611354 HGNC:26052 "ENST00000435064.6|NM_017871.6" +HGNC:25067 INTS12 integrator complex subunit 12 protein-coding gene gene with protein product Approved 4q24 04q24 "SBBI22|INT12" hypothetical nuclear factor SBBI22 PHF22 PHD finger protein 22 "PHD finger proteins|Integrator complex" "88|1366" 2005-05-05 2006-03-15 2006-03-15 2014-11-19 57117 ENSG00000138785 OTTHUMG00000131215 uc010ilr.4 NM_020395 CCDS3671 Q96CB8 16239144 MGI:1919043 RGD:1359136 611355 HGNC:25067 "ENST00000340139.10|NM_020395.4" +HGNC:20174 INTS13 integrator complex subunit 13 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 "FLJ10637|NET48|Mat89Bb|SPATA30" "spermatogenesis associated 30|integrator complex subunit 13" "C12orf11|ASUN" "chromosome 12 open reading frame 11|asunder, spermatogenesis regulator homolog (Drosphila)" Integrator complex 1366 2004-12-07 2016-12-15 2016-12-15 2016-12-15 55726 ENSG00000064102 OTTHUMG00000169193 uc001rhk.5 AK001222 NM_018164 CCDS8708 Q9NVM9 "12414650|19357193|23097494" MGI:1918427 RGD:1592236 615079 HGNC:20174 "ENST00000261191.12|NM_018164.3" +HGNC:25372 INTS14 integrator complex subunit 14 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 DKFZP564O1664 "C15orf44|VWA9" "chromosome 15 open reading frame 44|von Willebrand factor A domain containing 9" Integrator complex 1366 2005-10-25 2016-12-15 2016-12-15 2016-12-15 81556 ENSG00000138614 OTTHUMG00000133159 uc002ape.5 AL136662 NM_030800 CCDS45283 Q96SY0 11230166 MGI:1917132 RGD:1359616 HGNC:25372 "ENST00000313182.7|NM_001394796.1" +HGNC:21702 INTS15 integrator complex subunit 15 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 MGC2718 C7orf26 chromosome 7 open reading frame 26 2003-07-14 2022-01-07 2022-01-07 2022-01-07 79034 ENSG00000146576 OTTHUMG00000125517 uc003sqo.2 BC005121 NM_024067 "CCDS5353|CCDS78206" Q96N11 33973408 MGI:2442621 RGD:1584479 HGNC:21702 "ENST00000344417.10|NM_024067.4" +HGNC:29239 INTU inturned planar cell polarity protein protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "KIAA1284|CPLANE4" ciliogenesis and planar polarity effector complex subunit 4 "PDZK6|PDZD6" "PDZ domain containing 6|inturned planar cell polarity effector homolog (Drosophila)" "PDZ domain containing|Ciliogenesis and planar polarity effector complex subunits" "1220|1610" 2004-01-30 2006-10-24 2013-03-05 2021-12-03 27152 ENSG00000164066 OTTHUMG00000161202 uc003ifk.3 BC051698 NM_015693 CCDS34061 Q9ULD6 "10574462|21761479" MGI:2443752 RGD:1309446 610621 470508 HGNC:29239 "ENST00000335251.11|NM_015693.4" HGNC:29239 +HGNC:17870 INVS inversin protein-coding gene gene with protein product Approved 9q31.1 09q31.1 nephrocystin 2 NPHP2 nephronophthisis 2 (infantile) Ankyrin repeat domain containing 403 2002-06-11 2003-08-11 2016-10-05 27130 ENSG00000119509 OTTHUMG00000020364 uc004bap.3 AF039217 NM_014425 CCDS6746 Q9Y283 12872123 MGI:1335082 RGD:1563359 243305 122667 HGNC:17870 "ENST00000262457.7|NM_014425.5" HGNC:17870 +HGNC:18360 IP6K1 inositol hexakisphosphate kinase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 KIAA0263 IHPK1 inositol hexaphosphate kinase 1 2002-03-11 2008-12-22 2009-01-05 2009-01-05 9807 ENSG00000176095 OTTHUMG00000158197 uc003cxm.2 D87452 NM_153273 "CCDS43092|CCDS33760" Q92551 MGI:1351633 RGD:71025 606991 HGNC:18360 "ENST00000321599.9|NM_153273.4" +HGNC:17313 IP6K2 inositol hexakisphosphate kinase 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 IHPK2 inositol hexaphosphate kinase 2 2002-01-04 2008-12-22 2009-01-05 2014-11-18 51447 ENSG00000068745 OTTHUMG00000133543 uc003cuq.4 AF177145 NM_016291 "CCDS54580|CCDS54581|CCDS54579|CCDS33752|CCDS2777" Q9UHH9 10574768 MGI:1923750 RGD:620529 606992 HGNC:17313 "ENST00000328631.10|NM_016291.4" +HGNC:17269 IP6K3 inositol hexakisphosphate kinase 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 INSP6K3 IHPK3 inositol hexaphosphate kinase 3 2002-01-04 2008-12-22 2009-01-05 2014-11-19 117283 ENSG00000161896 OTTHUMG00000014531 uc003ofb.3 AF393812 NM_054111 CCDS34435 Q96PC2 11502751 MGI:3045325 RGD:1584104 606993 HGNC:17269 "ENST00000293756.5|NM_054111.5" +HGNC:21204 IPCEF1 interaction protein for cytohesin exchange factors 1 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "PIP3-E|KIAA0403" phosphoinositide binding protein PIP3-E Pleckstrin homology domain containing 682 2009-02-27 2014-11-19 26034 ENSG00000074706 OTTHUMG00000015872 uc003qpx.4 AB007863 NM_001130699 "CCDS5245|CCDS47509" Q8WWN9 "11804589|19756519" MGI:2444159 RGD:735159 HGNC:21204 "ENST00000367220.9|NM_001130700.2" +HGNC:20739 IPMK inositol polyphosphate multikinase protein-coding gene gene with protein product Approved 10q21.1 10q21.1 2004-02-05 2004-07-22 2015-12-04 253430 ENSG00000151151 OTTHUMG00000018268 uc001jkb.3 AF432853 NM_152230 CCDS7250 Q8NFU5 "12223481|12027805" MGI:1916968 RGD:620954 609851 457568 2.7.1.151 HGNC:20739 "ENST00000373935.4|NM_152230.5" HGNC:20739 +HGNC:39354 IPMKP1 inositol polyphosphate multikinase pseudogene 1 pseudogene pseudogene Approved 13q12.12 13q12.12 2010-11-29 2010-11-29 401730 ENSG00000226507 OTTHUMG00000016553 NG_011396 PGOHUM00000248329 HGNC:39354 +HGNC:19426 IPO4 importin 4 protein-coding gene gene with protein product Approved 14q12 14q12 "Imp4|FLJ23338" "Importins|TOG domain containing" "596|1495" 2003-03-10 2016-10-05 79711 ENSG00000196497 OTTHUMG00000028801 uc001wmv.2 AF411122 NM_024658 CCDS9616 Q8TEX9 11823430 MGI:1923001 RGD:1305206 HGNC:19426 "ENST00000354464.11|NM_024658.4" +HGNC:6402 IPO5 importin 5 protein-coding gene gene with protein product Approved 13q32.2 13q32.2 "IMB3|MGC2068|PSE1" "PSE1 homolog (S. cerevisiae)|Kap beta3 import receptor" "KPNB3|RANBP5" "karyopherin (importin) beta 3|RAN binding protein 5" "Importins|TOG domain containing" "596|1495" 1997-06-09 2008-04-15 2008-04-15 2021-11-22 3843 ENSG00000065150 OTTHUMG00000017244 uc010til.2 U72761 NM_002271 CCDS31999 O00410 "9114010|9271386|17005651" MGI:1917822 RGD:1308715 602008 HGNC:6402 "ENST00000651721.2|NM_002271.6" +HGNC:49687 IPO5P1 importin 5 pseudogene 1 pseudogene pseudogene Approved 19p12 19p12 2014-02-12 2014-02-12 100132815 ENSG00000269837 OTTHUMG00000183233 NR_103741 PGOHUM00000234262 HGNC:49687 +HGNC:9852 IPO7 importin 7 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Imp7 RANBP7 RAN binding protein 7 "Importins|Small nucleolar RNA protein coding host genes" "596|1835" 1998-11-30 2003-03-14 2003-03-11 2016-10-05 10527 ENSG00000205339 OTTHUMG00000165753 uc001mho.4 AF098799 NM_006391 CCDS31425 O95373 9214382 MGI:2152414 RGD:1310849 605586 HGNC:9852 "ENST00000379719.8|NM_006391.3" +HGNC:39837 IPO7P1 importin 7 pseudogene 1 pseudogene pseudogene Approved Xp11.22 Xp11.22 2011-03-30 2014-11-19 100129708 ENSG00000232951 OTTHUMG00000021542 NG_022600 PGOHUM00000241299 HGNC:39837 +HGNC:39838 IPO7P2 importin 7 pseudogene 2 pseudogene pseudogene Approved 13q12.12 13q12.12 2011-03-30 2014-11-19 100128337 ENSG00000225674 OTTHUMG00000016575 NG_011413 PGOHUM00000248332 HGNC:39838 +HGNC:9853 IPO8 importin 8 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 IMP8 RANBP8 RAN binding protein 8 Importins 596 1998-11-30 2003-03-14 2003-03-11 2014-11-18 10526 ENSG00000133704 OTTHUMG00000169172 uc001rjd.4 U77494 NM_006390 "CCDS53773|CCDS8719" O15397 9214382 MGI:2444611 RGD:1593688 605600 HGNC:9853 "ENST00000256079.9|NM_006390.4" +HGNC:41955 IPO8P1 importin 8 pseudogene 1 pseudogene pseudogene Approved 1q32.2 01q32.2 2011-05-23 2014-11-18 100418819 ENSG00000224668 OTTHUMG00000036450 NG_029777 HGNC:41955 +HGNC:19425 IPO9 importin 9 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Imp9|FLJ10402" "Importins|MicroRNA protein coding host genes" "596|1691" 2003-03-10 2016-10-05 55705 ENSG00000198700 OTTHUMG00000035805 uc001gwz.4 AF410465 NM_018085 CCDS1415 Q96P70 "11823430|10574461" MGI:1918944 RGD:1310537 HGNC:19425 "ENST00000361565.9|NM_018085.5" +HGNC:40892 IPO9-AS1 IPO9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 IPO9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-24 2012-08-15 2021-07-22 100873949 ENSG00000231871 OTTHUMG00000035809 uc031vjy.2 BI916758 NR_046696 IPO9-AS1 HGNC:40892 +HGNC:20628 IPO11 importin 11 protein-coding gene gene with protein product Approved 5q12.1 05q12.1 RanBP11 Importins 596 2003-03-10 2014-11-18 51194 ENSG00000086200 OTTHUMG00000154400 uc003jtc.4 AF111109 NM_016338 "CCDS34167|CCDS47217" Q9UI26 MGI:2442377 RGD:1311133 610889 HGNC:20628 "ENST00000325324.11|NM_016338.5" +HGNC:16853 IPO13 importin 13 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "IMP13|KIAA0724|RANBP13" Importins 596 2003-03-10 2014-11-19 9670 ENSG00000117408 OTTHUMG00000008297 uc001ckx.4 AB018267 NM_014652 CCDS503 O94829 "9872452|11447110" MGI:2385205 RGD:620071 610411 HGNC:16853 "ENST00000372343.8|NM_014652.4" +HGNC:6108 IPP intracisternal A particle-promoted polypeptide protein-coding gene gene with protein product Approved 1p34.1 01p34.1 KLHL27 kelch-like family member 27 "Kelch like|BTB domain containing" "617|861" 1992-05-08 2016-10-05 3652 ENSG00000197429 OTTHUMG00000008004 uc001cou.4 BC032544 NM_005897 "CCDS44132|CCDS30702" Q9Y573 "1905535|8432546" MGI:96581 RGD:1306299 147485 HGNC:6108 "ENST00000396478.4|NM_005897.3" +HGNC:14645 IPPK inositol-pentakisphosphate 2-kinase protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "INSP5K2|FLJ13163|IP5K|IPK1" C9orf12 "chromosome 9 open reading frame 12|inositol 1,3,4,5,6-pentakisphosphate 2-kinase" 2001-02-27 2005-10-20 2015-11-27 2015-11-27 64768 ENSG00000127080 OTTHUMG00000020231 uc004asl.1 AK023225 NM_022755 CCDS6699 Q9H8X2 12084730 MGI:1922928 RGD:1311271 619043 HGNC:14645 "ENST00000287996.8|NM_022755.6" +HGNC:39390 IPPKP1 inositol 1,3,4,5,6-pentakisphosphate 2-kinase pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 2010-12-02 2010-12-02 100874419 ENSG00000225585 OTTHUMG00000016530 NG_032283 PGOHUM00000248321 HGNC:39390 +HGNC:6109 IPW imprinted in Prader-Willi syndrome non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 NCRNA00002 non-protein coding RNA 2 imprinted in Prader-Willi syndrome (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 1994-12-13 2018-05-16 2018-08-23 3653 U12897 NR_023915 "7849716|9601023|24816254" 601491 ipw HGNC:6109 +HGNC:49576 IQANK1 IQ motif and ankyrin repeat containing 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 onco-lncRNA-3 FAM83H-AS1 FAM83H antisense RNA 1 (head to head) Ankyrin repeat domain containing 403 2017-02-10 2021-01-13 642574 ENSG00000203499 OTTHUMG00000165153 BM020479 NM_001381874 A8MXQ7 MGI:3588184 RGD:1563870 618942 HGNC:49576 "ENST00000527139.7|NM_001381874.1" +HGNC:26195 IQCA1 IQ motif containing with AAA domain 1 protein-coding gene gene with protein product Approved 2q37.2-q37.3 02q37.2-q37.3 "FLJ22527|DRC11" dynein regulatory complex subunit 11 IQCA IQ motif containing with AAA domain "AAA ATPases|Dynein regulatory complex" "413|981" 2004-09-01 2008-07-02 2008-07-02 2018-02-13 79781 ENSG00000132321 OTTHUMG00000153058 uc002vvz.3 AK026180 NM_024726 "CCDS74677|CCDS46549|CCDS59441" Q86XH1 23427265 MGI:1922168 RGD:1305311 HGNC:26195 "ENST00000409907.8|NM_024726.5" +HGNC:41137 IQCA1-AS1 IQCA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37 02q37 Antisense RNAs 1987 2014-05-12 2014-11-19 107080627 ENSG00000232893 OTTHUMG00000153059 BF509914 NR_174961 IQCA1-AS1 +HGNC:22831 IQCA1L IQ motif containing with AAA domain 1 like protein-coding gene gene with protein product Approved 7q36.1 07q36.1 TCAG_9762 IQCA1P1 IQ motif containing with AAA domain 1 pseudogene 1 2009-01-23 2014-11-19 2014-11-19 2020-04-20 392843 ENSG00000278685 OTTHUMG00000156140 NM_001304419 CCDS78288 A6NCM1 MGI:3045319 RGD:1564789 HGNC:22831 "ENST00000615129.4|NM_001304419.2" +HGNC:28949 IQCB1 IQ motif containing B1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "KIAA0036|NPHP5|SLSN5" nephrocystin-5 IQ calmodulin-binding motif containing 1 Armadillo like helical domain containing 1492 2004-03-05 2004-09-02 2016-10-05 9657 ENSG00000173226 OTTHUMG00000128677 uc010hre.1 D25278 NM_014642 "CCDS33836|CCDS33837" Q15051 15723066 MGI:2443764 RGD:1310069 609237 122670 HGNC:28949 "ENST00000310864.11|NM_001023570.4" HGNC:28949 +HGNC:17727 IQCB2P IQ motif containing B2 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 dJ313I6.1 KIAA0036 pseudogene IQCB1P1 IQCB1 pseudogene 1 2004-11-25 2005-01-17 2014-11-19 340192 ENSG00000217539 OTTHUMG00000014501 NG_005320 PGOHUM00000243536 HGNC:17727 +HGNC:25545 IQCC IQ motif containing C protein-coding gene gene with protein product Approved 1p35.2 01p35.2 FLJ10547 2004-09-02 2016-10-05 55721 ENSG00000160051 OTTHUMG00000005739 uc001bum.3 AL049795 NM_018134 "CCDS355|CCDS53293" Q4KMZ1 MGI:2446212 RGD:1583461 HGNC:25545 "ENST00000291358.11|NM_018134.3" +HGNC:25168 IQCD IQ motif containing D protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "DRC10|CFAP84" dynein regulatory complex subunit 10 "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2004-09-02 2016-10-11 115811 ENSG00000166578 OTTHUMG00000169659 uc001tuu.4 BC013151 NM_138451 "CCDS9167|CCDS81743" Q96DY2 "23427265|24804578" MGI:1922982 RGD:1560757 HGNC:25168 "ENST00000416617.3|NM_001330452.2" +HGNC:29171 IQCE IQ motif containing E protein-coding gene gene with protein product Approved 7p22.3 07p22.3 KIAA1023 2004-09-02 2016-04-25 23288 ENSG00000106012 OTTHUMG00000152047 uc003smo.6 AL136792 NM_152558 "CCDS75559|CCDS75560|CCDS43542|CCDS47527" Q6IPM2 10470851 MGI:1921489 RGD:1311349 617631 HGNC:29171 "ENST00000402050.7|NM_152558.5" HGNC:29171 +HGNC:28607 IQCF1 IQ motif containing F1 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 MGC39725 2004-09-02 2018-06-04 132141 ENSG00000173389 OTTHUMG00000156908 uc003dbv.4 BC029595 NM_152397 CCDS2836 Q8N6M8 25380116 MGI:1921517 RGD:1565640 HGNC:28607 "ENST00000310914.10|NM_152397.3" +HGNC:31815 IQCF2 IQ motif containing F2 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 2004-09-02 2016-10-05 389123 ENSG00000184345 OTTHUMG00000156914 uc003dbt.2 AK128883 NM_203424 CCDS2835 Q8IXL9 RGD:1565277 HGNC:31815 "ENST00000333127.4|NM_203424.2" +HGNC:31816 IQCF3 IQ motif containing F3 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 2004-09-02 2016-10-05 401067 ENSG00000229972 OTTHUMG00000156910 uc062khs.1 AK057432 NM_001085479 CCDS46837 P0C7M6 HGNC:31816 "ENST00000440739.4|NM_001393887.1" +HGNC:54720 IQCF4P IQ motif containing F4, pseudogene pseudogene pseudogene Approved 3p21.2 03p21.2 2019-12-10 2019-12-10 100506840 ENSG00000224792 OTTHUMG00000156909 NR_038213 MGI:1914570 +HGNC:35159 IQCF5 IQ motif containing F5 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 2008-10-16 2018-11-16 389124 ENSG00000214681 OTTHUMG00000156913 uc011bdx.2 NM_001145059 CCDS46838 A8MTL0 MGI:1922720 RGD:1560754 HGNC:35159 "ENST00000446461.2|NM_001145059.2" +HGNC:41297 IQCF5-AS1 IQCF5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.2 03p21.2 IQCF5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2020-04-20 101928999 ENSG00000235455 OTTHUMG00000156912 uc032rnu.1 NR_109984 IQCF5-AS1 HGNC:41297 +HGNC:35158 IQCF6 IQ motif containing F6 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 2008-10-16 2018-11-16 440956 ENSG00000214686 OTTHUMG00000187148 uc021wyv.1 NM_001143833 CCDS54590 A8MYZ5 MGI:3781315 RGD:1562645 HGNC:35158 "ENST00000667863.2|NM_001368369.1" +HGNC:25251 IQCG IQ motif containing G protein-coding gene gene with protein product Approved 3q29 03q29 "DKFZp434B227|DRC9|CFAP122" dynein regulatory complex subunit 9 "Dynein regulatory complex|Cilia and flagella associated" "981|1491" 2005-01-19 2014-11-19 84223 ENSG00000114473 OTTHUMG00000155408 uc003fyp.4 AL136889 NM_032263 "CCDS3331|CCDS82898" Q9H095 "11230166|23427265|24362311" MGI:1916957 RGD:1311606 612477 HGNC:25251 "ENST00000265239.11|NM_032263.5" +HGNC:25721 IQCH IQ motif containing H protein-coding gene gene with protein product Approved 15q23 15q23 FLJ12476 2005-10-24 2016-04-25 64799 ENSG00000103599 OTTHUMG00000133231 uc002aqo.3 AY014282 NM_022784 "CCDS10223|CCDS61680|CCDS61681|CCDS32273|CCDS76772" Q86VS3 12477932 MGI:1925500 RGD:1310670 612523 HGNC:25721 "ENST00000335894.9|NM_001031715.3" +HGNC:44104 IQCH-AS1 IQCH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 IQCH antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2012-10-12 100506686 ENSG00000259673 OTTHUMG00000172247 uc059kpr.1 NR_040051 IQCH-AS1 HGNC:44104 +HGNC:32406 IQCJ IQ motif containing J protein-coding gene gene with protein product Approved 3q25.32 03q25.32 2006-01-16 2018-07-17 654502 ENSG00000214216 OTTHUMG00000166440 uc003fcp.3 "DQ309553|DQ309554" NM_001042705.1 "CCDS56290|CCDS46946|CCDS46947" Q1A5X6 17045569 MGI:3644166 611622 HGNC:32406 "ENST00000397832.7|NM_001042706.3" +HGNC:38842 IQCJ-SCHIP1 IQCJ-SCHIP1 readthrough other readthrough Approved 3q25.32-q25.33 03q25.32-q25.33 2010-10-11 2018-02-13 100505385 ENSG00000283154 OTTHUMG00000162426 uc003fcs.3 NM_001197113 "CCDS56291|CCDS56289" B3KU38 MGI:5439400 HGNC:38842 +HGNC:41303 IQCJ-SCHIP1-AS1 IQCJ-SCHIP1 readthrough antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.33 03q25.33 IQCJ-SCHIP1 readthrough antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-16 2012-08-15 2019-06-19 100874433 ENSG00000241211 OTTHUMG00000158933 uc062pmg.1 NR_121669 31205916 IQCJ-SCHIP1-AS1 HGNC:41303 +HGNC:28556 IQCK IQ motif containing K protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "MGC35048|FLJ36575" 2006-06-14 2014-11-19 124152 ENSG00000174628 OTTHUMG00000131453 uc002dgr.4 AF520569 NM_153208 CCDS10580 Q8N0W5 10493829 MGI:3612188 RGD:6502881 HGNC:28556 +HGNC:53443 IQCM IQ motif containing M protein-coding gene gene with protein product Approved 4q31.23 04q31.23 2017-04-13 2017-04-13 285423 ENSG00000234828 OTTHUMG00000161394 NM_001363507 "CCDS87270|CCDS87271" A0A1B0GVH7 MGI:1919081 RGD:9206342 HGNC:53443 "ENST00000636793.2|NM_001363507.2" +HGNC:29350 IQCN IQ motif containing N protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA1683 KIAA1683 2004-02-12 2017-10-24 2017-10-24 2017-10-24 80726 ENSG00000130518 OTTHUMG00000183354 uc002nin.3 AB051470 NM_001145304 "CCDS32958|CCDS46018|CCDS46017" Q9H0B3 "11214970|11230166" MGI:3708784 RGD:7549926 HGNC:29350 "ENST00000392413.5|NM_001145304.2" +HGNC:6110 IQGAP1 IQ motif containing GTPase activating protein 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "p195|KIAA0051|SAR1|HUMORFA01" RasGAP-like with IQ motifs IQ motif containing GTPase activating protein family 2021 1999-07-23 2014-11-19 8826 ENSG00000140575 OTTHUMG00000149832 uc002bpl.2 D29640 NM_003870 CCDS10362 P46940 "8051149|8670801" MGI:1352757 RGD:1311884 603379 HGNC:6110 "ENST00000268182.10|NM_003870.4" +HGNC:6111 IQGAP2 IQ motif containing GTPase activating protein 2 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 IQ motif containing GTPase activating protein family 2021 1999-07-23 2016-10-05 10788 ENSG00000145703 OTTHUMG00000162432 uc003kek.5 U51903 NM_006633 "CCDS75262|CCDS68898|CCDS34188|CCDS68897" Q13576 8756646 MGI:2449975 RGD:2321734 605401 HGNC:6111 "ENST00000274364.11|NM_006633.5" +HGNC:20669 IQGAP3 IQ motif containing GTPase activating protein 3 protein-coding gene gene with protein product Approved 1q22 01q22 IQ motif containing GTPase activating protein family 2021 2003-06-23 2016-10-05 128239 ENSG00000183856 OTTHUMG00000033114 uc001fpf.4 AY253300 NM_178229 CCDS1144 Q86VI3 MGI:3028642 RGD:1305951 HGNC:20669 "ENST00000361170.7|NM_178229.5" +HGNC:29112 IQSEC1 IQ motif and Sec7 domain ArfGEF 1 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "KIAA0763|GEP100|BRAG2|ARF-GEP100" brefeldin A-resistant ARF-GEF2 IQ motif and Sec7 domain 1 IQSEC ArfGEF family 1881 2004-08-27 2019-08-23 2020-01-20 9922 ENSG00000144711 OTTHUMG00000155398 uc003bxt.4 BC010267 NM_014869 "CCDS87048|CCDS33703|CCDS74902" Q6DN90 "9872452|8619474|31607425" MGI:1196356 RGD:1596313 610166 470510 HGNC:29112 "ENST00000613206.2|NM_001134382.3" HGNC:29112 +HGNC:29059 IQSEC2 IQ motif and Sec7 domain ArfGEF 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "KIAA0522|BRAG1|IQ-ArfGEF" brefeldin A resistant Arf-guanine nucleotide exchange factor 1 "MRX1|MRX78|MRX18" "mental retardation, X-linked 1 (non-dysmorphic)|mental retardation, X-linked 78|mental retardation, X-linked 18|IQ motif and Sec7 domain 2" IQSEC ArfGEF family 1881 2004-08-27 2019-08-23 2021-05-26 23096 ENSG00000124313 OTTHUMG00000021608 uc004dsc.4 AB011094 NM_001111125 "CCDS48130|CCDS87748|CCDS35298" Q5JU85 "9628581|20473311|26793055" MGI:3528396 RGD:1596452 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IQSEC2|LRG_1194|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1194.xml" 300522 232248 HGNC:29059 "ENST00000642864.1|NM_001111125.3" HGNC:29059 +HGNC:29193 IQSEC3 IQ motif and Sec7 domain ArfGEF 3 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "KIAA1110|MGC30156" IQ motif and Sec7 domain 3 IQSEC ArfGEF family 1881 2004-08-27 2019-08-23 2020-04-20 440073 ENSG00000120645 OTTHUMG00000167975 uc001qhu.2 AB029033 NM_001170738 "CCDS31725|CCDS53728" Q9UPP2 10470851 MGI:2677208 RGD:1593191 612118 HGNC:29193 "ENST00000538872.6|NM_001170738.2" +HGNC:56002 IQSEC3-AS1 IQSEC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Antisense RNAs 1987 2021-11-25 2021-11-25 105369592 ENSG00000256540 XR_001748948 +HGNC:49848 IQSEC3P1 IQ motif and Sec7 domain 3 pseudogene 1 pseudogene pseudogene Approved 12p13.33 12p13.33 2014-03-18 2014-03-18 100132450 ENSG00000256902 OTTHUMG00000168141 NG_021681 PGOHUM00000239294 HGNC:49848 +HGNC:49849 IQSEC3P2 IQ motif and Sec7 domain 3 pseudogene 2 pseudogene pseudogene Approved 12p13.2 12p13.2 2014-03-18 2014-03-18 100130073 NG_021705 PGOHUM00000239674 HGNC:49849 +HGNC:49850 IQSEC3P3 IQ motif and Sec7 domain 3 pseudogene 3 pseudogene pseudogene Approved 20q13.33 20q13.33 2014-03-18 2014-03-18 728056 NG_021984 PGOHUM00000247575 HGNC:49850 +HGNC:21995 IQUB IQ motif and ubiquitin domain containing protein-coding gene gene with protein product Approved 7q31.32 07q31.32 FLJ35834 2007-01-22 2014-11-19 154865 ENSG00000164675 OTTHUMG00000157347 uc003vko.4 AK093153 NM_178827 CCDS5787 Q8NA54 MGI:3041159 RGD:4145674 HGNC:21995 "ENST00000324698.11|NM_178827.5" +HGNC:7237 IRAG1 inositol 1,4,5-triphosphate receptor associated 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "JAW1L|IRAG" "inositol 1,4,5-triphosphate-associated cGMP kinase substrate|IP3R-associated cGMP kinase substrate" MRVI1 murine retrovirus integration site 1 homolog 1999-06-10 2020-03-02 2020-03-02 2020-03-02 10335 ENSG00000072952 OTTHUMG00000165773 uc010rcc.2 AF081249 NM_001098579 "CCDS44539|CCDS55746|CCDS44540|CCDS44538|CCDS55745" Q9Y6F6 10321731 MGI:1338023 RGD:1309828 604673 HGNC:7237 "ENST00000423302.7|NM_130385.4" +HGNC:43434 IRAG1-AS1 IRAG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 MRVI1-AS1 "MRVI1 antisense RNA 1 (non-protein coding)|MRVI1 antisense RNA 1" Antisense RNAs 1987 2011-10-28 2020-03-02 2020-03-02 2020-03-02 100129827 ENSG00000177112 OTTHUMG00000165772 uc031pza.2 NR_034093 31273338 MRVI1-AS1 HGNC:43434 +HGNC:6690 IRAG2 inositol 1,4,5-triphosphate receptor associated 2 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 JAW1 LRMP "lymphoid-restricted membrane protein|lymphoid restricted membrane protein" 1997-10-28 2020-03-02 2020-03-02 2020-03-02 4033 ENSG00000118308 OTTHUMG00000170192 uc001rgh.4 NM_006152 CCDS8701 Q12912 8021504 MGI:108424 RGD:1562062 602003 HGNC:6690 "ENST00000556887.6|NM_001366544.2" +HGNC:50365 IRAIN IGF1R antisense imprinted non-protein coding RNA non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 IGF1R-AS IGF1R antisense RNA Long non-coding RNAs with non-systematic symbols 1992 2014-08-07 2021-10-15 104472848 ENSG00000259424 OTTHUMG00000171862 NR_126453 "25092925|27644252" LRG_1064|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1064.xml 619212 HGNC:50365 +HGNC:6112 IRAK1 interleukin 1 receptor associated kinase 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "IRAK|pelle" 1998-06-22 2015-11-11 2021-05-26 3654 ENSG00000184216 OTTHUMG00000024228 uc004fjs.2 L76191 NM_001025242 "CCDS35444|CCDS14740|CCDS35443" P51617 "9374458|8599092" MGI:107420 RGD:1563841 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IRAK1 300283 369336 objectId:2042 HGNC:6112 "ENST00000369980.8|NM_001569.4" +HGNC:17368 IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "AIP70|SIMPL" 2003-07-17 2015-11-11 2018-11-16 134728 ENSG00000146243 OTTHUMG00000015070 uc003pim.6 AI478629 NM_001010844 CCDS34488 Q5VVH5 11096118 MGI:1929475 RGD:1305012 615375 HGNC:17368 "ENST00000369940.7|NM_001010844.4" +HGNC:6113 IRAK2 interleukin 1 receptor associated kinase 2 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 1998-06-22 2015-11-11 2016-10-05 3656 ENSG00000134070 OTTHUMG00000155358 uc003bve.2 AF026273 NM_001570 CCDS33697 O43187 9374458 MGI:2429603 RGD:1309584 603304 objectId:2043 HGNC:6113 "ENST00000256458.5|NM_001570.4" +HGNC:17020 IRAK3 interleukin 1 receptor associated kinase 3 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 IRAK-M interleukin-1 receptor-associated kinase 3 MicroRNA protein coding host genes 1691 2002-07-17 2015-11-11 2016-10-11 11213 ENSG00000090376 OTTHUMG00000169002 uc001sth.4 AF113136 NM_001142523 "CCDS8975|CCDS44937" Q9Y616 10383454 MGI:1921164 RGD:1308846 604459 objectId:2044 HGNC:17020 "ENST00000261233.9|NM_007199.3" HGNC:17020 +HGNC:17967 IRAK4 interleukin 1 receptor associated kinase 4 protein-coding gene gene with protein product Approved 12q12 12q12 NY-REN-64 2002-09-27 2015-11-11 2021-05-26 51135 ENSG00000198001 OTTHUMG00000169425 uc001rnt.4 AF155118 NM_001114182 "CCDS8744|CCDS44862" Q9NWZ3 "3772297|10508479" MGI:2182474 RGD:1305303 "IRAK4base: Mutation registry for IRAK4 deficiency|http://structure.bmc.lu.se/idbase/IRAK4base/|LRG_75|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_75.xml" 606883 122674 objectId:2045 HGNC:17967 "ENST00000613694.5|NM_016123.4" HGNC:17967 +HGNC:6115 IREB2 iron responsive element binding protein 2 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 IRP2 1991-02-20 2015-11-12 2015-11-12 3658 ENSG00000136381 OTTHUMG00000143861 uc002bdr.3 M58511 NM_004136 "CCDS81912|CCDS10302" P48200 2172968 MGI:1928268 RGD:621539 147582 HGNC:6115 "ENST00000258886.13|NM_004136.4" HGNC:6115 +HGNC:6116 IRF1 interferon regulatory factor 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 MAR interferon regulatory factor-1 Interferon regulatory factors 1743 1991-05-09 2016-10-05 3659 ENSG00000125347 OTTHUMG00000059497 uc003kxa.3 NM_002198 CCDS4155 P10914 "2726461|1680796" MGI:96590 RGD:2920 147575 470512 HGNC:6116 "ENST00000245414.9|NM_002198.3" +HGNC:33838 IRF1-AS1 IRF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 C5orf56 chromosome 5 open reading frame 56 Antisense RNAs 1987 2009-04-20 2019-07-24 2019-07-24 2021-08-18 441108 ENSG00000197536 OTTHUMG00000059493 uc003kwy.4 BC130299 NR_161242 Q8N8D9 HGNC:33838 +HGNC:6117 IRF2 interferon regulatory factor 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 Interferon regulatory factors 1743 1991-05-09 2016-01-15 3660 ENSG00000168310 OTTHUMG00000160606 uc003iwf.5 NM_002199 CCDS3835 P14316 2475256 MGI:96591 RGD:1304922 147576 HGNC:6117 "ENST00000393593.8|NM_002199.4" +HGNC:54871 IRF2-DT IRF2 divergent transcript non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 Divergent transcripts 1990 2020-04-01 2020-04-01 117134601 ENSG00000271646 32211330 +HGNC:21728 IRF2BP1 interferon regulatory factor 2 binding protein 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "DKFZP434M154|IRF-2BP1" 2003-07-21 2019-08-20 26145 ENSG00000170604 OTTHUMG00000182485 uc002pds.2 AY278022 NM_015649 CCDS12678 Q8IU81 12799427 MGI:2442159 RGD:1308312 615331 HGNC:21728 "ENST00000302165.5|NM_015649.3" +HGNC:21729 IRF2BP2 interferon regulatory factor 2 binding protein 2 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 IRF-2BP2 2003-07-21 2015-08-25 359948 ENSG00000168264 OTTHUMG00000037981 uc001hwg.3 AY278023 NM_182972 "CCDS41475|CCDS1602" Q7Z5L9 12799427 MGI:2443921 RGD:1589517 615332 HGNC:21729 "ENST00000366609.4|NM_182972.3" HGNC:21729 +HGNC:14282 IRF2BPL interferon regulatory factor 2 binding protein like protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "EAP1|KIAA1865" enhanced at puberty 1 C14orf4 "chromosome 14 open reading frame 4|interferon regulatory factor 2 binding protein-like" 2000-12-21 2011-02-23 2016-03-24 2016-03-24 64207 ENSG00000119669 OTTHUMG00000171578 uc001xsy.4 AJ277365 NM_024496 CCDS9854 Q9H1B7 "11095982|17627301" MGI:2442463 RGD:1310994 611720 HGNC:14282 "ENST00000238647.5|NM_024496.4" HGNC:14282 +HGNC:6118 IRF3 interferon regulatory factor 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Interferon regulatory factors 1743 1996-11-13 2021-05-26 3661 ENSG00000126456 OTTHUMG00000183287 uc002pou.4 NM_001571 "CCDS56099|CCDS59409|CCDS59407|CCDS12775|CCDS59408" Q14653 8524823 MGI:1859179 RGD:1549774 603734 470514 HGNC:6118 "ENST00000377139.8|NM_001571.6" +HGNC:6119 IRF4 interferon regulatory factor 4 protein-coding gene gene with protein product Approved 6p25.3 06p25.3 LSIRF MUM1 Interferon regulatory factors 1743 1996-05-31 2015-11-18 3662 ENSG00000137265 OTTHUMG00000016294 uc003msz.5 U52682 NM_001195286 CCDS4469 Q15306 "8921401|18417578" MGI:1096873 RGD:1308050 IRF4 601900 470516 HGNC:6119 "ENST00000380956.9|NM_002460.4" +HGNC:6120 IRF5 interferon regulatory factor 5 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 IRF-5 Interferon regulatory factors 1743 1996-05-31 2021-08-31 3663 ENSG00000128604 OTTHUMG00000158410 uc003voh.4 NM_001098627 "CCDS56512|CCDS5808|CCDS43645" Q13568 "11303025|15657875" MGI:1350924 RGD:1310447 607218 239872 HGNC:6120 "ENST00000357234.10|NM_001098629.3" +HGNC:41981 IRF5P1 interferon regulatory factor 5 pseudogene 1 pseudogene pseudogene Approved 8q22.1 08q22.1 2011-05-24 2011-05-24 100420406 ENSG00000251347 OTTHUMG00000160421 NG_026120 PGOHUM00000249745 HGNC:41981 +HGNC:6121 IRF6 interferon regulatory factor 6 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "OFC6|VWS1" "VWS|LPS" Van der Woude syndrome Interferon regulatory factors 1743 1997-10-16 2021-05-26 3664 ENSG00000117595 OTTHUMG00000036521 uc001hhq.3 AL022398 NM_006147 "CCDS55681|CCDS1492" O14896 12219090 MGI:1859211 RGD:1309645 607199 122684 HGNC:6121 "ENST00000367021.8|NM_006147.4" HGNC:6121 +HGNC:6122 IRF7 interferon regulatory factor 7 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 Interferon regulatory factors 1743 1996-11-13 2021-05-26 3665 ENSG00000185507 OTTHUMG00000132019 uc057xis.1 U53830 NM_001572 "CCDS7703|CCDS7705|CCDS7704" Q92985 MGI:1859212 RGD:1307828 LRG_1313|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1313.xml 605047 470518 HGNC:6122 "ENST00000525445.6|NM_001572.5" HGNC:6122 +HGNC:5358 IRF8 interferon regulatory factor 8 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "IRF-8|ICSBP" ICSBP1 interferon consensus sequence binding protein 1 "MicroRNA protein coding host genes|Interferon regulatory factors " "1691|1743" 1993-09-09 2004-11-12 2004-11-12 2021-05-26 3394 ENSG00000140968 OTTHUMG00000137648 uc002fjh.4 M91196 NM_002163 "CCDS86547|CCDS10956" Q02556 "1460054|11997525" MGI:96395 RGD:1312024 LRG_294|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_294.xml 601565 315478 HGNC:5358 "ENST00000268638.10|NM_002163.4" HGNC:5358 +HGNC:6131 IRF9 interferon regulatory factor 9 protein-coding gene gene with protein product Approved 14q12 14q12 ISGF3G "interferon-stimulated transcription factor 3, gamma (48kD)|interferon-stimulated transcription factor 3, gamma 48kDa" Interferon regulatory factors 1743 1999-06-21 2007-07-06 2007-07-06 2016-10-05 10379 ENSG00000213928 OTTHUMG00000028799 uc058zzb.1 M87503 NM_001385400 CCDS9615 Q00978 "1630447|10199920" MGI:107587 RGD:1308766 147574 HGNC:6131 "ENST00000396864.8|NM_006084.5" +HGNC:28835 IRGC immunity related GTPase cinema protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "Iigp5|CINEMA" IRGC1 immunity-related GTPase family, cinema 1 2005-02-21 2005-10-31 2016-04-28 2018-06-04 56269 ENSG00000124449 OTTHUMG00000154587 uc002oxh.4 BC066939 NM_019612 CCDS12629 Q6NXR0 20737271 MGI:2685948 RGD:1311107 HGNC:28835 "ENST00000244314.6|NM_019612.4" +HGNC:29597 IRGM immunity related GTPase M protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "LRG47|LRG-47|IFI1" IRGM1 immunity-related GTPase family, M1 2005-02-21 2005-03-23 2016-07-11 2016-07-11 345611 ENSG00000237693 OTTHUMG00000163647 uc010jhk.3 BC038539 NM_001145805 CCDS47313 A1A4Y4 "7561525|14576437" "MGI:107567|MGI:107729" RGD:1305163 608212 302996 HGNC:29597 "ENST00000522154.2|NM_001145805.2" +HGNC:24868 IRGQ immunity related GTPase Q protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FKSG27 IRGQ1 immunity-related GTPase family, Q1 2005-02-21 2005-10-31 2016-06-13 2019-08-20 126298 ENSG00000167378 OTTHUMG00000182701 uc010eiv.3 AF322648 NM_001007561 CCDS33040 Q8WZA9 16277747 MGI:2667176 RGD:1309409 HGNC:24868 "ENST00000422989.6|NM_001007561.3" +HGNC:6125 IRS1 insulin receptor substrate 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 HIRS-1 Pleckstrin homology domain containing 682 1992-08-24 2016-10-05 3667 ENSG00000169047 OTTHUMG00000133179 uc002voh.5 NM_005544 CCDS2463 P35568 1648180 MGI:99454 RGD:2922 147545 HGNC:6125 "ENST00000305123.6|NM_005544.3" +HGNC:6126 IRS2 insulin receptor substrate 2 protein-coding gene gene with protein product Approved 13q34 13q34 Pleckstrin homology domain containing 682 1998-11-24 2014-11-19 8660 ENSG00000185950 OTTHUMG00000017338 uc001vqv.4 AB000732 NM_003749 CCDS9510 Q9Y4H2 9312143 MGI:109334 RGD:69316 600797 HGNC:6126 "ENST00000375856.5|NM_003749.3" +HGNC:6127 IRS3P insulin receptor substrate 3, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 IRS3L insulin receptor substrate 3-like 1998-06-03 2010-10-19 2010-10-19 2016-10-11 442338 ENSG00000184414 OTTHUMG00000156030 NG_005538 "9799793|12488959" MGI:1194882 HGNC:6127 +HGNC:6128 IRS4 insulin receptor substrate 4 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "PY160|IRS-4" 1998-11-24 2020-04-02 8471 ENSG00000133124 OTTHUMG00000022181 uc004eoc.3 AF007567 NM_003604 CCDS14544 O14654 "9261155|9553137" MGI:1338009 RGD:1562442 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IRS4 IRS4 300904 HGNC:6128 "ENST00000372129.4|NM_001379150.1" HGNC:6128 +HGNC:55650 IRS4-AS1 IRS4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.3 Xq22.3 Antisense RNAs 1987 2021-06-28 2021-06-28 101928358 ENSG00000237863 NR_110652 +HGNC:14358 IRX1 iroquois homeobox 1 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 IRX-5 TALE class homeoboxes and pseudogenes 526 2001-02-27 2007-07-13 2014-11-19 79192 ENSG00000170549 OTTHUMG00000161632 uc003jde.3 U90307 NM_024337 CCDS34132 P78414 MGI:1197515 RGD:1309060 606197 8446 HGNC:14358 "ENST00000302006.4|NM_024337.4" +HGNC:33315 IRX1P1 iroquois homeobox 1 pseudogene 1 pseudogene pseudogene Approved 13q12.12 13q12.12 TALE class homeoboxes and pseudogenes 526 2007-02-07 2011-06-20 646390 ENSG00000231417 OTTHUMG00000016590 NG_009487 8591 HGNC:33315 +HGNC:14359 IRX2 iroquois homeobox 2 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 TALE class homeoboxes and pseudogenes 526 2001-07-20 2007-07-13 2015-08-25 153572 ENSG00000170561 OTTHUMG00000090377 uc003jda.4 AF319967 NM_001134222 CCDS3868 Q9BZI1 11435706 MGI:1197526 RGD:1309834 606198 8447 460697 HGNC:14359 "ENST00000302057.6|NM_033267.5" +HGNC:14360 IRX3 iroquois homeobox 3 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 IRX-1 TALE class homeoboxes and pseudogenes 526 2001-02-27 2007-07-13 2015-08-25 79191 ENSG00000177508 OTTHUMG00000133200 uc002eht.2 U90308 NM_024336 CCDS10750 P78415 MGI:1197522 RGD:1307424 612985 8410 HGNC:14360 "ENST00000329734.4|NM_024336.3" +HGNC:6129 IRX4 iroquois homeobox 4 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 iroquois homeobox protein 4 TALE class homeoboxes and pseudogenes 526 2000-06-09 2007-07-13 2022-01-11 50805 ENSG00000113430 OTTHUMG00000090411 uc031sir.2 AF124733 NM_016358 "CCDS75225|CCDS3867" P78413 10625552 MGI:1355275 RGD:1309309 606199 8448 470520 HGNC:6129 "ENST00000231357.7|NM_016358.3" +HGNC:40305 IRX4-AS1 IRX4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Antisense RNAs 1987 2019-08-14 2019-08-14 101929056 ENSG00000249116 OTTHUMG00000161602 XR_241724 HGNC:40305 +HGNC:33316 IRX4P1 iroquois homeobox 4 pseudogene 1 pseudogene pseudogene Approved 18p11.22 18p11.22 TALE class homeoboxes and pseudogenes 526 2007-02-07 2020-04-06 100009671 NG_056815 1973146 8592 HGNC:33316 +HGNC:14361 IRX5 iroquois homeobox 5 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 IRX-2a TALE class homeoboxes and pseudogenes 526 2001-02-27 2007-07-13 2021-05-26 10265 ENSG00000176842 OTTHUMG00000133201 uc002ehv.4 U90309 NM_001252197 "CCDS10751|CCDS58462" P78411 MGI:1859086 RGD:1565518 606195 8449 317747 HGNC:14361 "ENST00000394636.9|NM_005853.6" HGNC:14361 +HGNC:14675 IRX6 iroquois homeobox 6 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 IRX-3 IRX7 "iroquois homeobox protein 7|iroquois homeobox protein 6" TALE class homeoboxes and pseudogenes 526 2001-02-27 2003-01-10 2007-07-13 2020-04-01 79190 ENSG00000159387 OTTHUMG00000172239 uc002ehy.4 AF319966 NM_024335 CCDS32449 P78412 MGI:1927642 RGD:1564830 606196 8450 HGNC:14675 "ENST00000290552.8|NM_024335.3" +HGNC:28660 ISCA1 iron-sulfur cluster assembly 1 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "MGC4276|ISA1|hIscA" HBLD2 "HESB like domain containing 2|iron-sulfur cluster assembly 1 homolog (S. cerevisiae)" Mitochondrial iron-sulfur assembly components 1853 2004-01-05 2007-01-18 2013-08-06 2016-10-05 81689 ENSG00000135070 OTTHUMG00000020135 uc004aop.4 AF038186 NM_030940 CCDS35056 Q9BUE6 "15262227|22323289" MGI:1916296 RGD:727792 611006 470522 HGNC:28660 "ENST00000375991.9|NM_030940.4" HGNC:28660 +HGNC:33263 ISCA1P1 iron-sulfur cluster assembly 1 pseudogene 1 pseudogene pseudogene Approved 5q12.1 05q12.1 ISCA1L "iron-sulfur cluster assembly 1 homolog (S. cerevisiae)-like|iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 1" 2007-01-18 2010-03-19 2013-08-06 2014-11-18 389293 ENSG00000217416 OTTHUMG00000153236 NG_021247 PGOHUM00000235241 HGNC:33263 +HGNC:38023 ISCA1P2 iron-sulfur cluster assembly 1 pseudogene 2 pseudogene pseudogene Approved 1q42.13 01q42.13 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 2 2010-03-23 2013-08-06 2014-11-18 100288517 ENSG00000229840 OTTHUMG00000037628 NG_022828 PGOHUM00000245247 HGNC:38023 +HGNC:38024 ISCA1P3 iron-sulfur cluster assembly 1 pseudogene 3 pseudogene pseudogene Approved 17q22 17q22 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 3 2010-03-23 2013-08-06 2014-11-18 100131092 ENSG00000261965 OTTHUMG00000177813 NG_022956 PGOHUM00000237440 HGNC:38024 +HGNC:38025 ISCA1P4 iron-sulfur cluster assembly 1 pseudogene 4 pseudogene pseudogene Approved 15q15.1 15q15.1 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 4 2010-03-23 2013-08-06 2017-10-26 100128012 ENSG00000259405 OTTHUMG00000172512 NG_022952 PGOHUM00000292920 HGNC:38025 +HGNC:38026 ISCA1P5 iron-sulfur cluster assembly 1 pseudogene 5 pseudogene pseudogene Approved 19p13.11 19p13.11 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 5 2010-03-23 2013-08-06 2014-11-18 100288250 NG_023026 PGOHUM00000234548 HGNC:38026 +HGNC:38027 ISCA1P6 iron-sulfur cluster assembly 1 pseudogene 6 pseudogene pseudogene Approved 2q14.3 02q14.3 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene 6 2010-03-23 2013-08-06 2014-11-19 100130549 ENSG00000227653 OTTHUMG00000153415 NG_023024 PGOHUM00000240287 HGNC:38027 +HGNC:19857 ISCA2 iron-sulfur cluster assembly 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 ISA2 HBLD1 "HesB like domain containing 1|iron-sulfur cluster assembly 2 homolog (S. cerevisiae)" Mitochondrial iron-sulfur assembly components 1853 2002-11-27 2007-01-18 2013-08-06 2021-05-26 122961 ENSG00000165898 OTTHUMG00000171214 uc001xpz.4 NM_194279 "CCDS61504|CCDS32122" Q86U28 22323289 MGI:1921566 RGD:1563216 615317 460630 HGNC:19857 "ENST00000556816.6|NM_194279.4" HGNC:19857 +HGNC:38022 ISCA2P1 iron-sulfur cluster assembly 2 pseudogene 1 pseudogene pseudogene Approved 22q12.1 22q12.1 iron-sulfur cluster assembly 2 homolog (S. cerevisiae) pseudogene 1 2010-03-23 2013-08-06 2014-11-18 100287193 ENSG00000226912 OTTHUMG00000150978 NG_029633 PGOHUM00000246300 HGNC:38022 +HGNC:29882 ISCU iron-sulfur cluster assembly enzyme protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "ISU2|hnifU" NIFUN "NifU-like N-terminal domain containing|IscU iron-sulfur cluster scaffold homolog (E. coli)|iron-sulfur cluster scaffold homolog (E. coli)" Mitochondrial iron-sulfur assembly components 1853 2005-01-05 2006-10-24 2013-08-05 2021-05-26 23479 ENSG00000136003 OTTHUMG00000168420 uc010sxc.3 U47101 NM_014301 "CCDS9118|CCDS73518|CCDS44966|CCDS76597" Q9H1K1 "8875867|11060020" MGI:1913633 RGD:1309562 611911 168093 HGNC:29882 "ENST00000311893.14|NM_213595.4" HGNC:29882 +HGNC:38021 ISCUP1 iron-sulfur cluster assembly enzyme pseudogene 1 pseudogene pseudogene Approved 1q24.2 01q24.2 iron-sulfur cluster scaffold homolog (E. coli) pseudogene 1 2010-03-23 2013-08-06 2014-11-18 100462833 ENSG00000238051 OTTHUMG00000035970 NG_022742 PGOHUM00000244328 HGNC:38021 +HGNC:4053 ISG15 ISG15 ubiquitin like modifier protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "IFI15|UCRP" G1P2 interferon, alpha-inducible protein (clone IFI-15K) 1990-10-16 2006-04-28 2019-02-18 2021-05-26 9636 ENSG00000187608 OTTHUMG00000040777 uc001acj.5 BC009507 NM_005101 CCDS6 P05161 3087979 MGI:1855694 RGD:1310312 LRG_1231|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1231.xml 147571 315470 HGNC:4053 "ENST00000649529.1|NM_005101.4" HGNC:4053 +HGNC:6130 ISG20 interferon stimulated exonuclease gene 20 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "HEM45|CD25" interferon stimulated exonuclease gene 20kDa Exonucleases 544 1998-01-30 2016-06-01 2016-10-05 3669 ENSG00000172183 OTTHUMG00000148679 uc059mxq.1 X89773 NM_002201 CCDS10345 Q96AZ6 "9235947|9605874" MGI:1928895 RGD:1306407 604533 HGNC:6130 "ENST00000306072.10|NM_002201.6" +HGNC:25745 ISG20L2 interferon stimulated exonuclease gene 20 like 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 FLJ12671 interferon stimulated exonuclease gene 20kDa-like 2 Exonucleases 544 2005-06-30 2016-06-01 2016-06-01 81875 ENSG00000143319 OTTHUMG00000041301 uc001fps.2 AK095697 NM_030980 CCDS1153 Q9H9L3 18065403 MGI:2140076 RGD:1359413 611930 HGNC:25745 "ENST00000368219.2|NM_001370150.2" +HGNC:6132 ISL1 ISL LIM homeobox 1 protein-coding gene gene with protein product Approved 5q11.1 05q11.1 "Isl-1|ISLET1" ISL1 transcription factor, LIM/homeodomain, (islet-1) LIM class homeoboxes 522 1994-12-13 2007-07-13 2016-10-05 3670 ENSG00000016082 OTTHUMG00000162281 uc003jor.4 BC031213 NM_002202 CCDS43314 P61371 7912209 MGI:101791 RGD:61957 600366 8451 431237 HGNC:6132 "ENST00000230658.12|NM_002202.3" +HGNC:55414 ISL1-DT ISL1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q11.1 05q11.1 Divergent transcripts 1990 2021-01-06 2021-01-06 642366 ENSG00000259663 NR_046243 +HGNC:18524 ISL2 ISL LIM homeobox 2 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 FLJ10160 ISL2 transcription factor, LIM/homeodomain, (islet-2) LIM class homeoboxes 522 2002-04-29 2007-07-13 2015-09-02 64843 ENSG00000159556 OTTHUMG00000143723 uc002bbw.2 AK001022 NM_145805 CCDS10290 Q96A47 MGI:109156 RGD:621849 609481 8534 HGNC:18524 "ENST00000290759.9|NM_145805.3" +HGNC:6133 ISLR immunoglobulin superfamily containing leucine rich repeat protein-coding gene gene with protein product Approved 15q24.1 15q24.1 HsT17563 I-set domain containing 593 1997-07-11 2016-06-06 2016-10-05 3671 ENSG00000129009 OTTHUMG00000137623 uc002axg.2 AB003184 NM_005545 CCDS10260 O14498 9325048 MGI:1349645 RGD:1596359 602059 HGNC:6133 "ENST00000249842.8|NM_005545.4" +HGNC:29286 ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 KIAA1465 Immunoglobulin like domain containing 594 2006-02-16 2016-06-06 2016-06-06 57611 ENSG00000167178 OTTHUMG00000137624 uc002axd.3 NM_020851 CCDS10259 Q6UXK2 "10819331|12975309" MGI:2444277 RGD:6497037 614179 HGNC:29286 "ENST00000453268.3|NM_020851.3" +HGNC:16213 ISM1 isthmin 1 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 bA149I18.1 C20orf82 "chromosome 20 open reading frame 82|isthmin 1 homolog (zebrafish)|isthmin 1, angiogenesis inhibitor" 2001-07-17 2008-12-23 2016-08-10 2016-11-08 140862 ENSG00000101230 OTTHUMG00000031902 uc010gce.2 AL133463 NM_080826 CCDS46579 B1AKI9 "19874420|25952901" MGI:2442963 RGD:1562551 615793 HGNC:16213 "ENST00000262487.5|NM_080826.2" +HGNC:44313 ISM1-AS1 ISM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.1 20p12.1 ISM1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-09 2012-08-15 2012-10-12 100505536 ENSG00000226263 OTTHUMG00000031900 uc002wof.3 "BC038745|BX092222|DB453950" NR_040043 ISM1-AS1 HGNC:44313 +HGNC:23176 ISM2 isthmin 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ32147|TAIL1" thrombospondin and AMOP containing isthmin-like 1 THSD3 "thrombospondin, type I domain-containing 3|thrombospondin, type I, domain containing 3|isthmin 2 homolog (zebrafish)" 2003-09-29 2008-12-23 2013-05-15 2014-11-19 145501 ENSG00000100593 OTTHUMG00000158563 uc001xtz.4 AK056709 NM_182509 "CCDS45143|CCDS9864" Q6H9L7 15194193 MGI:2685110 RGD:1589343 612684 HGNC:23176 "ENST00000342219.9|NM_199296.3" +HGNC:24254 ISOC1 isochorismatase domain containing 1 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 CGI-111 MicroRNA protein coding host genes 1691 2005-02-07 2016-10-05 51015 ENSG00000066583 OTTHUMG00000163144 uc003kva.4 AF151869 NM_016048 CCDS43357 Q96CN7 "10810093|18566572" MGI:1913557 RGD:1307632 HGNC:24254 "ENST00000173527.6|NM_016048.2" +HGNC:26278 ISOC2 isochorismatase domain containing 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 FLJ23469 2005-02-07 2015-09-02 79763 ENSG00000063241 OTTHUMG00000180830 uc002qla.4 AK027122 NM_024710 "CCDS46194|CCDS12925|CCDS46195" Q96AB3 17658461 "MGI:1914691|MGI:3609243" RGD:1309062 612928 HGNC:26278 "ENST00000425675.7|NM_001136201.2" +HGNC:28977 IST1 IST1 factor associated with ESCRT-III protein-coding gene gene with protein product Approved 16q22.2 16q22.2 CHMP8 IST1, endosomal sorting complex required for transport-III component KIAA0174 "KIAA0174|increased sodium tolerance 1 homolog (yeast)|IST1, ESCRT-III associated factor" ESCRT-III associated factors 1119 2005-07-14 2011-08-18 2019-01-31 2019-01-31 9798 ENSG00000182149 OTTHUMG00000137597 uc059wws.1 BC004359 NM_014761 "CCDS59272|CCDS59274|CCDS10905|CCDS59273|CCDS59271" P53990 "8724849|19129480" MGI:1919205 RGD:1307799 616434 HGNC:28977 "ENST00000378799.11|NM_001270975.2" +HGNC:28084 ISX intestine specific homeobox protein-coding gene gene with protein product Approved 22q12.3 22q12.3 RAXLX intestine-specific homeobox PRD class homeoboxes and pseudogenes 521 2006-08-08 2016-01-18 2016-01-18 91464 ENSG00000175329 OTTHUMG00000150962 uc003anj.4 AK025181 NM_001008494 CCDS33640 Q2M1V0 MGI:1918847 RGD:1592776 612019 8378 HGNC:28084 "ENST00000404699.7|NM_001303508.2" +HGNC:29201 ISY1 ISY1 splicing factor homolog protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "KIAA1160|fSAP33" functional spliceosome-associated protein 33 ISY1 splicing factor homolog (S. cerevisiae) "Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1507|1508|1510|1516" 2007-01-18 2015-07-03 2015-07-03 57461 ENSG00000240682 OTTHUMG00000137365 uc003elp.3 NM_020701 "CCDS43149|CCDS56277" Q9ULR0 16103217 MGI:1923310 RGD:1307688 612764 HGNC:29201 "ENST00000393295.8|NM_020701.4" +HGNC:42969 ISY1-RAB43 ISY1-RAB43 readthrough other readthrough Approved 3q21.3 03q21.3 2011-09-27 2011-09-27 2013-01-23 100534599 ENSG00000261796 OTTHUMG00000177122 uc003elo.3 NM_001204890 CCDS56276 MGI:1923310 HGNC:42969 +HGNC:29821 ISYNA1 inositol-3-phosphate synthase 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "Ino1|INOS|IPS" myo-inositol 1-phosphate synthase 2008-09-15 2014-11-19 51477 ENSG00000105655 OTTHUMG00000179027 uc002njd.2 NM_016368 "CCDS12379|CCDS62603|CCDS54234" Q9NPH2 "15024000|12941308" MGI:1919030 RGD:1359423 611670 5.5.1.4 HGNC:29821 "ENST00000338128.13|NM_016368.5" +HGNC:13890 ITCH itchy E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 AIP4 "itchy (mouse homolog) E3 ubiquitin protein ligase|itchy E3 ubiquitin protein ligase homolog (mouse)" "C2 domain containing|MicroRNA protein coding host genes|HECT domain containing" "823|1691|1959" 2001-04-27 2012-02-23 2021-04-13 83737 ENSG00000078747 OTTHUMG00000032300 uc002xak.3 AF095745 NM_001257137 "CCDS13234|CCDS58768|CCDS58769" Q96J02 11318614 MGI:1202301 RGD:1359556 LRG_354|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_354.xml 606409 232245 HGNC:13890 "ENST00000374864.10|NM_031483.7" HGNC:13890 +HGNC:40659 ITCH-AS1 ITCH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 ITCH antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 106480737 ENSG00000236388 OTTHUMG00000032298 uc061wis.1 ITCH-AS1 +HGNC:41397 ITCH-IT1 ITCH intronic transcript 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 ITCH intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874302 ENSG00000231795 OTTHUMG00000046196 uc061wiu.1 ITCH-IT1 +HGNC:30697 ITFG1 integrin alpha FG-GAP repeat containing 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "CDA08|TIP|LNKN-1" "T cell immunomodulatory protein|LINKIN" 2006-03-06 2015-08-12 81533 ENSG00000129636 OTTHUMG00000133103 uc002eet.4 AF503339 NM_030790 "CCDS76862|CCDS10728" Q8TB96 "12598909|25437307" MGI:106419 RGD:619898 611803 HGNC:30697 "ENST00000320640.11|NM_030790.5" +HGNC:51383 ITFG1-AS1 ITFG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Antisense RNAs 1987 2014-10-23 2014-10-23 101927102 ENSG00000260281 OTTHUMG00000175527 "BE551587|BI462694|AW303619" NR_110903 ITFG1-AS1 HGNC:51383 +HGNC:30879 ITFG2 integrin alpha FG-GAP repeat containing 2 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "MDS028|KICS3" FGGAP1 FG-GAP repeat containing 1 KICSTOR complex 1393 2006-03-06 2006-07-25 2021-02-08 55846 ENSG00000111203 OTTHUMG00000130617 uc001qlb.3 AF220048 NM_018463 CCDS8513 Q969R8 28199306 MGI:1915450 RGD:1311944 617421 HGNC:30879 "ENST00000228799.7|NM_018463.4" +HGNC:53128 ITFG2-AS1 ITFG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Antisense RNAs 1987 2017-02-16 2018-08-23 283440 ENSG00000258325 OTTHUMG00000169389 NR_146317 27646849 HGNC:53128 +HGNC:6134 ITGA1 integrin subunit alpha 1 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "VLA1|CD49a" very late antigen-1 integrin, alpha 1 "CD molecules|Integrin alpha subunits" "471|1160" 1992-02-27 2015-12-15 2021-09-15 3672 ENSG00000213949 OTTHUMG00000131163 uc003jou.4 X68742 NM_181501 CCDS3955 P56199 "8428973|11937138" MGI:96599 RGD:2923 192968 objectId:2437 CD49a HGNC:6134 "ENST00000282588.7|NM_181501.2" +HGNC:6137 ITGA2 integrin subunit alpha 2 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 CD49b alpha 2 subunit of VLA-2 receptor CD49B integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) "CD molecules|Integrin alpha subunits" "471|1160" 1991-08-06 2015-12-15 2021-04-13 3673 ENSG00000164171 OTTHUMG00000131165 uc003joy.3 NM_002203 CCDS3957 P17301 MGI:96600 RGD:621632 LRG_1001|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1001.xml 192974 328915 objectId:2440 CD49b HGNC:6137 "ENST00000296585.10|NM_002203.4" HGNC:6137 +HGNC:40306 ITGA2-AS1 ITGA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Antisense RNAs 1987 2021-04-12 2021-04-12 121232372 ENSG00000249899 OTTHUMG00000162173 +HGNC:6138 ITGA2B integrin subunit alpha 2b protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CD41B|CD41|PPP1R93" "protein phosphatase 1, regulatory subunit 93|platelet glycoprotein IIb of IIb/IIIa complex" GP2B "integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)|integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)" "CD molecules|Protein phosphatase 1 regulatory subunits|Integrin alpha subunits" "471|694|1160" 1986-01-01 2015-12-15 2021-04-13 3674 ENSG00000005961 OTTHUMG00000177935 uc002igt.2 NM_000419 CCDS32665 P08514 MGI:96601 RGD:1596428 LRG_479|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_479.xml 607759 122690 objectId:2441 CD41 HGNC:6138 "ENST00000262407.6|NM_000419.5" HGNC:6138 +HGNC:6139 ITGA3 integrin subunit alpha 3 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "CD49c|VLA3a|VCA-2|GAP-B3" "alpha 3 subunit of VLA-3 receptor|antigen CD49C" MSK18 "antigen identified by monoclonal antibody J143|integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)" "CD molecules|Integrin alpha subunits" "471|1160" 1992-02-27 2015-12-15 2015-12-15 3675 ENSG00000005884 OTTHUMG00000161890 uc010dbl.4 M59911 NM_005501 CCDS11558 P26006 "1655803|9704023" MGI:96602 RGD:1310333 605025 311039 objectId:2442 CD49c HGNC:6139 "ENST00000320031.13|NM_002204.4" HGNC:6139 +HGNC:6140 ITGA4 integrin subunit alpha 4 protein-coding gene gene with protein product Approved 2q31.3 02q31.3 CD49d "antigen CD49D|alpha 4 subunit of VLA-4 receptor" CD49D integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) "CD molecules|Integrin alpha subunits" "471|1160" 1991-08-06 2015-12-15 2016-10-05 3676 ENSG00000115232 OTTHUMG00000154212 uc002unu.4 NM_000885 "CCDS82540|CCDS42788" P13612 1537388 MGI:96603 RGD:1593249 192975 objectId:2443 CD49d HGNC:6140 "ENST00000397033.7|NM_000885.6" +HGNC:6141 ITGA5 integrin subunit alpha 5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 CD49e fibronectin receptor, alpha polypeptide FNRA integrin, alpha 5 (fibronectin receptor, alpha polypeptide) "CD molecules|Integrin alpha subunits" "471|1160" 1988-07-19 2015-12-15 2016-01-15 3678 ENSG00000161638 OTTHUMG00000169841 uc001sga.4 NM_002205 CCDS8880 P08648 2454952 MGI:96604 RGD:2925 135620 objectId:2444 CD49e HGNC:6141 "ENST00000293379.9|NM_002205.5" +HGNC:6142 ITGA6 integrin subunit alpha 6 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 CD49f integrin, alpha 6 "CD molecules|Integrin alpha subunits" "471|1160" 1991-08-06 2015-12-15 2015-12-15 3655 ENSG00000091409 OTTHUMG00000132277 uc002uho.2 NM_000210 "CCDS2249|CCDS46451|CCDS82534" P23229 MGI:96605 RGD:621633 147556 122695 objectId:2445 CD49f HGNC:6142 "ENST00000684293.1|NM_000210.4" HGNC:6142 +HGNC:40308 ITGA6-AS1 ITGA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 AC078883.3 Antisense RNAs 1987 2018-07-04 2018-07-04 101929947 ENSG00000232788 OTTHUMG00000154089 NR_157573 29959764 HGNC:40308 +HGNC:6143 ITGA7 integrin subunit alpha 7 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 integrin, alpha 7 Integrin alpha subunits 1160 1992-02-27 2015-12-15 2021-04-13 3679 ENSG00000135424 OTTHUMG00000170699 uc001shg.4 NM_002206 "CCDS44914|CCDS8888|CCDS55832" Q13683 7607681 MGI:102700 RGD:71022 LRG_871|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_871.xml 600536 166720 objectId:2446 HGNC:6143 "ENST00000257879.11|NM_002206.3" HGNC:6143 +HGNC:6144 ITGA8 integrin subunit alpha 8 protein-coding gene gene with protein product Approved 10p13 10p13 integrin, alpha 8 Integrin alpha subunits 1160 1998-10-01 2015-12-15 2015-12-15 8516 ENSG00000077943 OTTHUMG00000017733 uc001ioc.2 L36531 NM_003638 CCDS31155 P53708 7768999 MGI:109442 RGD:621634 604063 395065 objectId:2447 HGNC:6144 "ENST00000378076.4|NM_003638.3" HGNC:6144 +HGNC:6145 ITGA9 integrin subunit alpha 9 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "RLC|ITGA4L|ALPHA-RLC" integrin, alpha 4-like integrin, alpha 9 Integrin alpha subunits 1160 1994-05-12 2015-12-15 2016-10-05 3680 ENSG00000144668 OTTHUMG00000130815 uc003chd.4 L24158 NM_002207 CCDS2669 Q13797 "8245132|8290272" MGI:104756 RGD:1311191 603963 objectId:2448 HGNC:6145 "ENST00000264741.10|NM_002207.3" +HGNC:49668 ITGA9-AS1 ITGA9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.2 03p22.2 Antisense RNAs 1987 2014-02-03 2020-04-20 101928153 ENSG00000235257 OTTHUMG00000155924 BC040563 NR_110531 ITGA9-AS1 HGNC:49668 +HGNC:6135 ITGA10 integrin subunit alpha 10 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 integrin, alpha 10 Integrin alpha subunits 1160 1998-10-01 2015-12-15 2015-12-15 8515 ENSG00000143127 OTTHUMG00000013751 uc001eoa.4 AF074015 NM_003637 "CCDS72869|CCDS76204" O75578 "9685391|10702680" MGI:2153482 RGD:1305152 604042 objectId:2438 HGNC:6135 "ENST00000369304.8|NM_003637.5" +HGNC:6136 ITGA11 integrin subunit alpha 11 protein-coding gene gene with protein product Approved 15q23 15q23 HsT18964 integrin, alpha 11 Integrin alpha subunits 1160 1998-10-01 2015-12-15 2016-01-15 22801 ENSG00000137809 OTTHUMG00000172657 uc002ari.4 AF109681 NM_012211 CCDS45291 Q9UKX5 10486209 MGI:2442114 RGD:1311711 604789 objectId:2439 HGNC:6136 "ENST00000315757.9|NM_001004439.2" +HGNC:6146 ITGAD integrin subunit alpha D protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "CD11d|ADB2" integrin, alpha D "CD molecules|Integrin alpha subunits" "471|1160" 1997-06-09 2015-12-15 2016-01-15 3681 ENSG00000156886 OTTHUMG00000176614 uc002ebv.1 U40274 NM_005353 CCDS32438 Q13349 "8666289|9598326" MGI:3578624 RGD:71075 602453 objectId:2449 CD11d HGNC:6146 "ENST00000389202.3|NM_005353.3" +HGNC:6147 ITGAE integrin subunit alpha E protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "CD103|HUMINAE" "antigen CD103|human mucosal lymphocyte antigen 1, alpha polypeptide" integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) "CD molecules|Integrin alpha subunits" "471|1160" 1997-06-09 2015-12-15 2016-10-11 3682 ENSG00000083457 OTTHUMG00000177634 uc002fwo.5 L25851 NM_002208 CCDS32531 P38570 8119947 MGI:1298377 RGD:621644 604682 objectId:2450 CD103 HGNC:6147 "ENST00000263087.9|NM_002208.5" +HGNC:6148 ITGAL integrin subunit alpha L protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "LFA-1|LFA1A" "antigen CD11A (p180)|lymphocyte function-associated antigen 1, alpha polypeptide" CD11A integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) "CD molecules|Integrin alpha subunits|MicroRNA protein coding host genes" "471|1160|1691" 1986-01-01 2015-12-15 2021-09-15 3683 ENSG00000005844 OTTHUMG00000176964 uc002dyi.5 NM_001114380 "CCDS45461|CCDS32433" P20701 3284962 MGI:96606 RGD:631424 153370 objectId:2451 CD11a HGNC:6148 "ENST00000356798.11|NM_002209.3" +HGNC:6149 ITGAM integrin subunit alpha M protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "MAC-1|CD11b" "complement component 3 receptor 3 subunit|macrophage-1 antigen alpha subunit" "CR3A|CD11B" "integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)|integrin, alpha M (complement component 3 receptor 3 subunit)" "CD molecules|Integrin alpha subunits|Complement system regulators and receptors" "471|1160|1639" 1988-08-05 2015-12-15 2021-09-15 3684 ENSG00000169896 OTTHUMG00000176612 uc002ebq.4 J03925 NM_000632 "CCDS45470|CCDS54004" P11215 MGI:96607 RGD:2926 LRG_1333|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1333.xml 120980 358399 objectId:2452 CD11b HGNC:6149 "ENST00000544665.9|NM_000632.4" +HGNC:6150 ITGAV integrin subunit alpha V protein-coding gene gene with protein product Approved 2q32.1 02q32.1 CD51 "VNRA|MSK8|VTNR" "antigen identified by monoclonal antibody L230|vitronectin receptor|integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)|integrin, alpha V" "CD molecules|Integrin alpha subunits" "471|1160" 1988-07-19 2015-12-15 2016-10-05 3685 ENSG00000138448 OTTHUMG00000132635 uc002upq.5 NM_002210 "CCDS46471|CCDS46470|CCDS2292" P06756 2454952 MGI:96608 RGD:1310613 193210 objectId:2453 CD51 HGNC:6150 "ENST00000261023.8|NM_002210.5" +HGNC:6152 ITGAX integrin subunit alpha X protein-coding gene gene with protein product Approved 16p11.2 16p11.2 CD11c complement component 3 receptor 4 subunit CD11C "integrin, alpha X (antigen CD11C (p150), alpha polypeptide)|integrin, alpha X (complement component 3 receptor 4 subunit)" "CD molecules|Integrin alpha subunits|Complement system regulators and receptors" "471|1160|1639" 1988-08-15 2015-12-15 2015-12-15 3687 ENSG00000140678 OTTHUMG00000132465 uc002ebu.2 BC038237 NM_000887 "CCDS10711|CCDS67014" P20702 "3284962|2303426" MGI:96609 RGD:1561123 151510 470524 objectId:2454 CD11c HGNC:6152 "ENST00000268296.9|NM_000887.5" +HGNC:6153 ITGB1 integrin subunit beta 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "CD29|GPIIA" "FNRB|MSK12|MDF2" integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) "CD molecules|Integrin beta subunits" "471|1159" 1988-06-27 2015-12-15 2016-10-05 3688 ENSG00000150093 OTTHUMG00000017928 uc001iwt.5 BC020057 NM_002211 CCDS7174 P05556 2524991 MGI:96610 RGD:2927 135630 objectId:2455 CD29 HGNC:6153 "ENST00000302278.8|NM_002211.4" +HGNC:53718 ITGB1-DT ITGB1 divergent transcript non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 Divergent transcripts 1990 2017-09-01 2017-09-01 101929475 ENSG00000229656 OTTHUMG00000017934 XR_001747416 HGNC:53718 +HGNC:23927 ITGB1BP1 integrin subunit beta 1 binding protein 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "ICAP-1A|ICAP-1B|ICAP1|ICAP1A|ICAP1B|ICAP-1alpha" "integrin cytoplasmic domain-associated protein 1|integrin cytoplasmic domain-associated protein 1-beta|integrin cytoplasmic domain-associated protein 1-alpha|bodenin" integrin beta 1 binding protein 1 2003-12-15 2015-12-15 2016-10-05 9270 ENSG00000119185 OTTHUMG00000090414 uc061gmv.1 AF012023 "NM_004763|NM_022334" "CCDS1663|CCDS1662" O14713 "11854171|9281591" MGI:1306802 RGD:1307810 607153 HGNC:23927 "ENST00000355346.9|NM_004763.5" +HGNC:6154 ITGB1BP2 integrin subunit beta 1 binding protein 2 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 CHORDC3 melusin integrin beta 1 binding protein 2 2000-02-11 2015-12-15 2016-10-05 26548 ENSG00000147166 OTTHUMG00000021793 uc004dzr.2 AF140690 NM_012278 CCDS14411 Q9UKP3 10506186 MGI:1353420 RGD:1565015 300332 HGNC:6154 "ENST00000373829.8|NM_012278.4" +HGNC:3781 ITGB1P1 integrin subunit beta 1 pseudogene 1 pseudogene pseudogene Approved 19p13.12 19p13.12 ITGB1L FNRBL "fibronectin receptor, beta polypeptide-like|integrin beta 1 pseudogene 1" 1989-05-19 2010-10-13 2015-12-15 2020-04-07 100422691 ENSG00000269378 OTTHUMG00000183370 NG_024150 1979054 PGOHUM00000234172 HGNC:3781 +HGNC:6155 ITGB2 integrin subunit beta 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "LFA-1|MAC-1" complement component 3 receptor 3 and 4 subunit "CD18|MFI7" "integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)|integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)" "CD molecules|Integrin beta subunits|Complement system regulators and receptors" "471|1159|1639" 1986-01-01 2015-12-15 2021-04-13 3689 ENSG00000160255 OTTHUMG00000090257 uc002zgf.5 AK222505 NM_000211 CCDS13716 P05107 MGI:96611 RGD:1305581 "ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I)|http://structure.bmc.lu.se/idbase/ITGB2base/|LRG_76|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_76.xml" 600065 122698 objectId:2456 CD18 HGNC:6155 "ENST00000652462.1|NM_000211.5" HGNC:6155 +HGNC:44304 ITGB2-AS1 ITGB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 ITGB2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-08 2012-08-15 2012-10-12 100505746 ENSG00000227039 OTTHUMG00000090253 uc021wjv.2 "BC040064|BC051807" NR_038311 ITGB2-AS1 HGNC:44304 +HGNC:6156 ITGB3 integrin subunit beta 3 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "CD61|GPIIIa" "platelet glycoprotein IIIa|antigen CD61" GP3A integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) "CD molecules|Integrin beta subunits" "471|1159" 1988-06-09 2015-12-15 2021-04-13 3690 ENSG00000259207 OTTHUMG00000171956 uc002ilj.4 NM_000212 CCDS11511 P05106 2454952 MGI:96612 RGD:628868 LRG_481|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_481.xml 173470 122704 objectId:2457 CD61 HGNC:6156 "ENST00000559488.7|NM_000212.3" HGNC:6156 +HGNC:6157 ITGB3BP integrin subunit beta 3 binding protein protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "NRIF3|HSU37139|TAP20|CENPR" "centromere protein R|beta3-endonexin" integrin beta 3 binding protein (beta3-endonexin) Constitutive centromere associated network 1576 2000-05-08 2015-12-15 2020-11-17 23421 ENSG00000142856 OTTHUMG00000013364 uc001dba.3 U37139 NM_014288 "CCDS30736|CCDS55603" Q13352 "7593198|10490654" MGI:1914983 RGD:1310044 605494 HGNC:6157 "ENST00000271002.15|NM_014288.5" +HGNC:6158 ITGB4 integrin subunit beta 4 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 CD104 integrin, beta 4 "CD molecules|Fibronectin type III domain containing|Integrin beta subunits" "471|555|1159" 1991-08-06 2015-12-15 2015-12-15 3691 ENSG00000132470 OTTHUMG00000179814 uc002jpj.4 NM_000213 "CCDS58599|CCDS11727|CCDS32736" P16144 2070796 MGI:96613 RGD:2928 147557 122708 objectId:2458 CD104 HGNC:6158 "ENST00000200181.8|NM_000213.5" HGNC:6158 +HGNC:6160 ITGB5 integrin subunit beta 5 protein-coding gene gene with protein product Approved 3q21.2 03q21.2 integrin, beta 5 Integrin beta subunits 1159 1991-07-30 2015-12-15 2015-12-15 3693 ENSG00000082781 OTTHUMG00000159432 uc003eho.4 J05633 NM_002213 CCDS3030 P18084 2211615 MGI:96614 RGD:628869 147561 objectId:2459 HGNC:6160 "ENST00000296181.9|NM_002213.5" +HGNC:40309 ITGB5-AS1 ITGB5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.2 03q21.2 ITGB5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873992 ENSG00000244286 OTTHUMG00000159559 uc062nfr.1 ITGB5-AS1 +HGNC:6161 ITGB6 integrin subunit beta 6 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 integrin, beta 6 Integrin beta subunits 1159 1992-02-14 2015-12-15 2015-12-15 3694 ENSG00000115221 OTTHUMG00000132026 uc010fou.4 NM_000888 "CCDS74597|CCDS63040|CCDS2212|CCDS74596" P18564 "1729173|8120056" MGI:96615 RGD:1303119 147558 400703 objectId:2460 HGNC:6161 "ENST00000283249.7|NM_000888.5" HGNC:6161 +HGNC:6162 ITGB7 integrin subunit beta 7 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 integrin, beta 7 Integrin beta subunits 1159 1991-10-07 2015-12-15 2016-10-11 3695 ENSG00000139626 OTTHUMG00000169775 uc001scc.4 NM_000889 CCDS8849 P26010 2040616 MGI:96616 RGD:2929 147559 objectId:2461 HGNC:6162 "ENST00000267082.10|NM_000889.3" +HGNC:6163 ITGB8 integrin subunit beta 8 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 integrin, beta 8 Integrin beta subunits 1159 1992-10-06 2015-12-15 2020-09-25 3696 ENSG00000105855 OTTHUMG00000023594 uc003suu.4 NM_002214 CCDS5370 P26012 1918072 MGI:1338035 RGD:1311374 604160 objectId:2462 HGNC:6163 "ENST00000222573.5|NM_002214.3" +HGNC:55257 ITGB8-AS1 ITGB8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p21.1 07p21.1 Antisense RNAs 1987 2020-09-25 2020-09-25 101927811 ENSG00000271133 NR_110119 +HGNC:6164 ITGBL1 integrin subunit beta like 1 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 "TIED|OSCP" "ten integrin EGF-like repeat domains protein|ITGBL1, integrin beta-like 1" integrin, beta-like 1 (with EGF-like repeat domains) Integrin beta subunits 1159 1998-11-30 2015-12-15 2016-10-05 9358 ENSG00000198542 OTTHUMG00000017296 uc001vpb.5 AF072752 NM_004791 "CCDS9499|CCDS61362|CCDS61361|CCDS73594" O95965 10051402 MGI:2443439 RGD:1560635 604234 HGNC:6164 "ENST00000376180.8|NM_004791.3" +HGNC:6166 ITIH1 inter-alpha-trypsin inhibitor heavy chain 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "H1P|IATIH|ITIH" inter-alpha (globulin) inhibitor, H1 polypeptide Inter-alpha-trypsin inhibitor heavy chains 1840 1989-05-10 2011-10-26 2014-11-19 3697 ENSG00000055957 OTTHUMG00000150312 uc003dfs.4 NM_002215 "CCDS54595|CCDS2864" P19827 "1385302|10100603" MGI:96618 RGD:1306099 147270 HGNC:6166 "ENST00000273283.7|NM_002215.4" +HGNC:6167 ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 protein-coding gene gene with protein product Approved 10p14 10p14 H2P inter-alpha (globulin) inhibitor, H2 polypeptide "Gla domain containing|Inter-alpha-trypsin inhibitor heavy chains" "1250|1840" 1989-05-10 2011-10-26 2014-11-18 3698 ENSG00000151655 OTTHUMG00000017633 uc001ijs.4 X07173 NM_002216 CCDS31141 P19823 "1385302|10100603" MGI:96619 RGD:1565426 146640 HGNC:6167 "ENST00000358415.9|NM_002216.3" +HGNC:6168 ITIH3 inter-alpha-trypsin inhibitor heavy chain 3 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 H3P "pre-alpha (globulin) inhibitor, H3 polypeptide|inter-alpha-trypsin inhibitor heavy chain H3" "inter-alpha (globulin) inhibitor, H3 polypeptide|inter-alpha (globulin) inhibitor H3" Inter-alpha-trypsin inhibitor heavy chains 1840 1989-05-10 2011-10-26 2014-11-19 3699 ENSG00000162267 OTTHUMG00000158956 uc003dfv.3 NM_002217 CCDS46845 Q06033 "2465147|10100603" MGI:96620 RGD:620633 146650 HGNC:6168 "ENST00000449956.3|NM_002217.4" +HGNC:6169 ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "IHRP|H4P" plasma Kallikrein-sensitive glycoprotein ITIHL1 "inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)|inter-alpha-trypsin inhibitor heavy chain family, member 4" Inter-alpha-trypsin inhibitor heavy chains 1840 1995-11-30 2019-03-08 2019-03-08 3700 ENSG00000055955 OTTHUMG00000159023 uc003dfz.4 D38535 NM_002218 "CCDS54596|CCDS2865" Q14624 "9480842|7805892" MGI:109536 RGD:70881 600564 HGNC:6169 "ENST00000266041.9|NM_002218.5" +HGNC:40310 ITIH4-AS1 ITIH4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.1 03p21.1 ITIH4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-18 100873993 ENSG00000239799 OTTHUMG00000158983 uc062kqt.1 NR_046615 ITIH4-AS1 HGNC:40310 +HGNC:21449 ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 protein-coding gene gene with protein product Approved 10p14 10p14 MGC10848 "inter-alpha (globulin) inhibitor H5|inter-alpha-trypsin inhibitor heavy chain family, member 5" Inter-alpha-trypsin inhibitor heavy chains 1840 2004-01-28 2019-03-08 2019-03-08 80760 ENSG00000123243 OTTHUMG00000017635 uc031vwl.2 NM_030569 "CCDS31140|CCDS31139" Q86UX2 14744536 MGI:1925751 609783 HGNC:21449 "ENST00000397146.7|NM_030569.7" +HGNC:28907 ITIH6 inter-alpha-trypsin inhibitor heavy chain family member 6 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 UNQ6369 ITIH5L "inter-alpha (globulin) inhibitor H5-like|inter-alpha-trypsin inhibitor heavy chain family, member 6" Inter-alpha-trypsin inhibitor heavy chains 1840 2004-08-16 2011-10-26 2015-11-18 2020-04-02 347365 ENSG00000102313 OTTHUMG00000021634 uc004dtj.2 AY358170 NM_198510 CCDS14361 Q6UXX5 12975309 RGD:6485811 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ITIH5L HGNC:28907 "ENST00000218436.7|NM_198510.3" +HGNC:6171 ITK IL2 inducible T cell kinase protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "EMT|PSCTK2|LYK" "IL2-inducible T-cell kinase|IL2 inducible T-cell kinase" "Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases" "682|741|1457" 1995-12-18 2017-12-06 2021-04-13 3702 ENSG00000113263 OTTHUMG00000130245 uc003lwo.2 D13720 NM_005546 CCDS4336 Q08881 8364206 MGI:96621 RGD:1311618 LRG_189|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_189.xml ITK 186973 244711 objectId:2046 2.7.10.2 HGNC:6171 "ENST00000422843.8|NM_005546.4" HGNC:6171 +HGNC:18259 ITLN1 intelectin 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "ITLN|FLJ20022|LFR|HL-1|hIntL" omentin intelectin 1 (galactofuranose binding) 2003-03-14 2016-03-07 2016-10-05 55600 ENSG00000179914 OTTHUMG00000028604 uc001fxc.4 AB036706 NM_017625 CCDS1211 Q8WWA0 "11313366|11181563" MGI:1333831 RGD:1561048 609873 HGNC:18259 "ENST00000326245.4|NM_017625.3" +HGNC:20599 ITLN2 intelectin 2 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 HL-2 Fibrinogen C domain containing 554 2003-04-28 2016-10-05 142683 ENSG00000158764 OTTHUMG00000028605 uc001fxd.4 AY065973 NM_080878 CCDS1212 Q8WWU7 11181563 MGI:1333831 609874 HGNC:20599 "ENST00000368029.4|NM_080878.3" +HGNC:6173 ITM2A integral membrane protein 2A protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "BRICD2A|E25A" BRICHOS domain containing 2A BRICHOS domain containing 457 1999-04-15 2020-04-02 9452 ENSG00000078596 OTTHUMG00000021900 uc004edh.4 BC034485 NM_004867 "CCDS55455|CCDS14444" O43736 "9892734|8702637" MGI:107706 RGD:1559423 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ITM2A 300222 395153 HGNC:6173 "ENST00000373298.7|NM_004867.5" +HGNC:6174 ITM2B integral membrane protein 2B protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "BRI|E25B|E3-16|BRICD2B|BRI2" BRICHOS domain containing 2B BRICHOS domain containing 457 1999-04-15 2021-04-13 9445 ENSG00000136156 OTTHUMG00000016894 uc001vbz.4 AF092128 NM_021999 CCDS9409 Q9Y287 9795190 MGI:1309517 RGD:620727 LRG_1309|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1309.xml 603904 122711 HGNC:6174 "ENST00000647800.2|NM_021999.5" HGNC:6174 +HGNC:20919 ITM2BP1 integral membrane protein 2B pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 HsT33912 ITM2BP integral membrane protein 2B pseudogene 2005-12-20 2010-04-14 2010-04-14 2017-10-26 100420308 ENSG00000266853 OTTHUMG00000179257 NG_026163 PGOHUM00000294026 HGNC:20919 +HGNC:6175 ITM2C integral membrane protein 2C protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "BRI3|E25|hRPC.1050_D_4|ITM3|BRICD2C" BRICHOS domain containing 2C BRICHOS domain containing 457 1999-07-22 2016-10-05 81618 ENSG00000135916 OTTHUMG00000133219 uc002vqz.5 AF038953 NM_030926 "CCDS74665|CCDS2479|CCDS33395|CCDS33396" Q9NQX7 9653160 MGI:1927594 RGD:1309503 609554 HGNC:6175 "ENST00000326427.11|NM_030926.6" +HGNC:6176 ITPA inosine triphosphatase protein-coding gene gene with protein product Approved 20p13 20p13 "HLC14-06-P|dJ794I6.3" nucleoside-triphosphate diphosphatase C20orf37 inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 1986-01-01 2015-12-16 2017-12-15 3704 ENSG00000125877 OTTHUMG00000031738 uc002wid.4 AF026816 NM_033453 "CCDS46576|CCDS58762|CCDS13051" Q9BY32 11278832 MGI:96622 RGD:1589751 147520 284116 3.6.1.9 HGNC:6176 "ENST00000380113.8|NM_033453.4" HGNC:6176 +HGNC:6177 ITPK1 inositol-tetrakisphosphate 1-kinase protein-coding gene gene with protein product Approved 14q32.12 14q32.12 inositol 1,3,4-triphosphate 5/6 kinase 1997-06-12 2011-04-28 2014-11-19 3705 ENSG00000100605 OTTHUMG00000171226 uc001ybg.4 U51336 NM_014216 "CCDS45157|CCDS86425|CCDS9907" Q13572 "8662638|11042108" MGI:2446159 RGD:1595691 601838 2.7.1.134 HGNC:6177 "ENST00000267615.11|NM_014216.6" +HGNC:20132 ITPK1-AS1 ITPK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.12 14q32.12 "C14orf85|NCRNA00203|ITPK1AS|ITPK1-AS" "chromosome 14 open reading frame 85|non-protein coding RNA 203|ITPK1 antisense RNA (non-protein coding)|ITPK1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-01-13 2010-11-25 2012-08-15 2012-10-12 319085 ENSG00000258730 OTTHUMG00000171263 uc001ybi.4 AK024887 NR_002808 ITPK1-AS1 HGNC:20132 +HGNC:54951 ITPK1P1 ITPK1 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-05-01 2020-05-01 100421108 ENSG00000237351 NG_026687 +HGNC:6178 ITPKA inositol-trisphosphate 3-kinase A protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "IP3KA|IP3-3KA" inositol 1,4,5-trisphosphate 3-kinase A 1992-04-15 2011-04-28 2014-11-18 3706 ENSG00000137825 OTTHUMG00000130343 uc001znz.4 X54938 NM_002220 CCDS10076 P23677 "1330886|2175886" MGI:1333822 RGD:619950 147521 objectId:1447 2.7.1.127 HGNC:6178 "ENST00000260386.7|NM_002220.3" +HGNC:6179 ITPKB inositol-trisphosphate 3-kinase B protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "IP3KB|IP3-3KB" inositol 1,4,5-trisphosphate 3-kinase B 1992-04-15 2011-04-28 2014-11-19 3707 ENSG00000143772 OTTHUMG00000037582 uc010pvo.2 AJ242780 NM_002221 CCDS1555 P27987 "1654894|1330886" MGI:109235 RGD:2932 147522 objectId:1448 2.7.1.127 HGNC:6179 "ENST00000429204.6|NM_002221.4" HGNC:6179 +HGNC:40312 ITPKB-AS1 ITPKB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 ITPKB antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100873994 ENSG00000228548 OTTHUMG00000041340 uc057pyy.1 ITPKB-AS1 +HGNC:41349 ITPKB-IT1 ITPKB intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 ITPKB intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100506443 ENSG00000228382 OTTHUMG00000037587 uc031vpw.2 NR_103784 ITPKB-IT1 HGNC:41349 +HGNC:14897 ITPKC inositol-trisphosphate 3-kinase C protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "IP3KC|IP3-3KC" inositol 1,4,5-trisphosphate 3-kinase C 2001-06-28 2011-04-28 2016-10-11 80271 ENSG00000086544 OTTHUMG00000182688 uc002oot.5 Y11999 NM_025194 CCDS12563 Q96DU7 11085927 MGI:2442554 RGD:631336 606476 objectId:1449 2.7.1.127 HGNC:14897 "ENST00000263370.3|NM_025194.3" +HGNC:6180 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "Insp3r1|IP3R1|ACV|PPP1R94" protein phosphatase 1, regulatory subunit 94 "SCA15|SCA16|SCA29" "spinocerebellar ataxia 15|spinocerebellar ataxia 16|spinocerebellar ataxia 29|inositol 1,4,5-trisphosphate receptor, type 1" "Inositol 1,4,5-triphosphate receptors|Protein phosphatase 1 regulatory subunits" "297|694" 1990-03-14 2016-02-05 2021-05-26 3708 ENSG00000150995 OTTHUMG00000154996 uc021wsi.3 D26070 NM_002222 "CCDS54551|CCDS54550|CCDS46740" Q14643 "7945203|7500840|17590087|17932120|22986007" MGI:96623 RGD:2933 147265 159904 objectId:743 HGNC:6180 "ENST00000649015.2|NM_001378452.1" HGNC:6180 +HGNC:44470 ITPR1-DT ITPR1 divergent transcript non-coding RNA RNA, long non-coding Approved 3p26.1 03p26.1 ITPR1-AS1 ITPR1 antisense RNA 1 (head to head) Divergent transcripts 1990 2012-11-01 2018-03-23 2018-03-23 2018-03-23 100996539 ENSG00000231249 OTTHUMG00000154994 uc032rcf.2 BU629368 NR_108075 ITPR1-AS1 HGNC:44470 +HGNC:6181 ITPR2 inositol 1,4,5-trisphosphate receptor type 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 "IP3R2|CFAP48" cilia and flagella associated protein 48 "inositol 1,4,5-triphosphate receptor, type 2|inositol 1,4,5-trisphosphate receptor, type 2" "Inositol 1,4,5-triphosphate receptors|Cilia and flagella associated" "297|1491" 1991-06-05 2016-02-05 2016-02-05 3709 ENSG00000123104 OTTHUMG00000169181 uc001rhg.4 D26350 NM_002223 CCDS41764 Q14571 8081734 MGI:99418 RGD:69649 600144 477144 objectId:744 HGNC:6181 "ENST00000381340.8|NM_002223.4" HGNC:6181 +HGNC:56072 ITPR2-AS1 ITPR2 and SSPN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Antisense RNAs 1987 2021-12-13 2021-12-13 123706521 ENSG00000256234 +HGNC:6182 ITPR3 inositol 1,4,5-trisphosphate receptor type 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 IP3R3 "inositol 1,4,5-triphosphate receptor, type 3|inositol 1,4,5-trisphosphate receptor, type 3" "Inositol 1,4,5-triphosphate receptors|Protein phosphatase 1 regulatory subunits" "297|694" 1991-06-05 2016-02-05 2016-02-05 3710 ENSG00000096433 OTTHUMG00000014532 uc063nyh.1 D26351 NM_002224 CCDS4783 Q14573 "8081734|8288584" MGI:96624 RGD:2934 147267 objectId:745 HGNC:6182 "ENST00000605930.3|NM_002224.4" +HGNC:56127 ITPR3-AS1 ITPR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 Antisense RNAs 1987 2022-01-10 2022-01-10 101929188 NR_134628 +HGNC:27363 ITPRID1 ITPR interacting domain containing 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 FLJ38344 CCDC129 coiled-coil domain containing 129 2006-08-21 2018-06-15 2018-06-15 2018-06-15 223075 ENSG00000180347 OTTHUMG00000128611 uc064cpm.1 AK128026 NM_194300 CCDS5435 Q6ZRS4 14702039 MGI:2685304 RGD:1561131 HGNC:27363 "ENST00000615280.5|NM_001257967.3" +HGNC:11319 ITPRID2 ITPR interacting domain containing 2 protein-coding gene gene with protein product Approved 2q31.3 02q31.3 "CS-1|SPAG13|KRAP|KIAA1927" "cleavage signal-1 protein|KRAS-induced actin-interacting protein|sperm associated antigen 13" SSFA2 sperm specific antigen 2 1997-10-16 2018-06-15 2018-06-15 2018-06-15 6744 ENSG00000138434 OTTHUMG00000132584 uc002uoh.5 M61199 NM_006751 "CCDS2284|CCDS46467|CCDS74611" P28290 "1555770|23541577" MGI:1917849 RGD:1310767 118990 HGNC:11319 "ENST00000431877.7|NM_001130445.3" +HGNC:55386 ITPRID2-DT ITPRID2 divergent transcript non-coding RNA RNA, long non-coding Approved 2q31.3 02q31.3 Divergent transcripts 1990 2020-12-10 2020-12-10 119863860 ENSG00000260742 +HGNC:29370 ITPRIP inositol 1,4,5-trisphosphate receptor interacting protein protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "bA127L20.2|DANGER" KIAA1754 "KIAA1754|inositol 1,4,5-triphosphate receptor interacting protein" 2004-02-18 2008-08-11 2011-04-28 2015-08-04 85450 ENSG00000148841 OTTHUMG00000184003 uc001kyg.5 AB051541 NM_033397 CCDS7557 Q8IWB1 "11214970|16990268" MGI:3042776 RGD:6488464 HGNC:29370 "ENST00000337478.3|NM_001272013.2" +HGNC:54100 ITPRIP-AS1 ITPRIP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 Antisense RNAs 1987 2018-11-29 2018-11-29 101927472 ENSG00000228261 NR_120622 HGNC:54100 +HGNC:29371 ITPRIPL1 ITPRIP like 1 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 KIAA1754L "KIAA1754-like|inositol 1,4,5-triphosphate receptor interacting protein-like 1|inositol 1,4,5-trisphosphate receptor interacting protein-like 1" 2008-03-12 2008-08-11 2017-09-15 2017-09-15 150771 ENSG00000198885 OTTHUMG00000155230 uc002svx.4 NM_178495 "CCDS33250|CCDS46360|CCDS54378" Q6GPH6 12477932 MGI:1920588 RGD:1564158 HGNC:29371 "ENST00000439118.3|NM_001008949.3" +HGNC:27257 ITPRIPL2 ITPRIP like 2 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "FLJ22994|MGC126798|MGC126800|LOC162073" inositol 1,4,5-trisphosphate receptor interacting protein like 2 2008-08-11 2017-09-15 2017-09-15 162073 ENSG00000205730 OTTHUMG00000177199 uc002dfu.5 NM_001034841 CCDS32395 Q3MIP1 MGI:2442416 RGD:1564255 HGNC:27257 "ENST00000381440.5|NM_001034841.4" +HGNC:6183 ITSN1 intersectin 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "SH3P17|MGC134948|MGC134949" "SH3 domain protein-1A|human intersectin-SH3 domain-containing protein SH3P17|Src homology 3 domain-containing protein" "SH3D1A|ITSN" intersectin 1 (SH3 domain protein) "Pleckstrin homology domain containing|Dbl family Rho GEFs|C2 domain containing|EF-hand domain containing" "682|722|823|863" 1997-04-25 2015-11-10 2022-01-28 6453 ENSG00000205726 OTTHUMG00000065284 uc002yta.2 AF064244 NM_003024 "CCDS82664|CCDS82665|CCDS33545|CCDS33546|CCDS82661|CCDS82663|CCDS82666" Q15811 "9799604|9813051" MGI:1338069 RGD:2935 602442 HGNC:6183 "ENST00000381318.8|NM_003024.3" +HGNC:6184 ITSN2 intersectin 2 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "KIAA1256|SWAP|SH3P18|SWA|PRO2015" "SH3 domain protein 1B|SH3P18-like WASP associated protein" SH3D1B SH3 domain protein 1B "Dbl family Rho GEFs|C2 domain containing|EF-hand domain containing" "722|823|863" 2000-03-29 2002-10-30 2014-11-19 50618 ENSG00000198399 OTTHUMG00000090818 uc002rfe.3 AB033082 NM_006277 "CCDS1710|CCDS46230|CCDS1711" Q9NZM3 "10922467|11748279" MGI:1338049 RGD:1590890 604464 HGNC:6184 "ENST00000355123.9|NM_006277.3" +HGNC:6186 IVD isovaleryl-CoA dehydrogenase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "ACAD2|IVDH" "isovaleryl Coenzyme A dehydrogenase|isovaleryl CoA dehydrogenase" Acyl-CoA dehydrogenase family 974 1986-01-01 2010-05-11 2021-03-15 3712 ENSG00000128928 OTTHUMG00000129984 uc001zls.4 AF038317 NM_001159508 "CCDS10057|CCDS53930" P26440 2063866 MGI:1929242 RGD:2936 607036 122716 1.3.8.4 HGNC:6186 "ENST00000487418.8|NM_002225.5" HGNC:6186 +HGNC:6187 IVL involucrin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Cornified envelope precursor family 1352 1986-01-01 2016-10-05 3713 ENSG00000163207 OTTHUMG00000012451 uc001fau.4 BC046391 NM_005547 CCDS1030 P07476 2873896 MGI:96626 RGD:620141 147360 HGNC:6187 "ENST00000368764.4|NM_005547.4" +HGNC:16951 IVNS1ABP influenza virus NS1A binding protein protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "NS1-BP|HSPC068|NS-1|KIAA0850|ND1|KLHL39|ARA3" "kelch-like family member 39|Aryl hydrocarbon receptor-associated protein 3" "Kelch like|BTB domain containing" "617|861" 2003-05-19 2018-03-16 10625 ENSG00000116679 OTTHUMG00000035384 uc001grl.4 AB020657 NM_006469 CCDS1368 Q9Y6Y0 "9696811|10048485|16582008" MGI:2152389 RGD:1306290 609209 HGNC:16951 "ENST00000367498.8|NM_006469.5" HGNC:16951 +HGNC:25467 IWS1 interacts with SUPT6H, CTD assembly factor 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "DKFZp761G0123|FLJ10006|FLJ14655|FLJ32319" "IWS1 homolog (S. cerevisiae)|IWS1, SUPT6H interacting protein" 2006-03-17 2019-02-01 2019-02-01 55677 ENSG00000163166 OTTHUMG00000131527 uc002ton.3 AK000868 NM_017969 CCDS2146 Q96ST2 "17234882|17184735" MGI:1920723 RGD:1304762 HGNC:25467 "ENST00000295321.9|NM_017969.3" +HGNC:21071 IYD iodotyrosine deiodinase protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "dJ422F24.1|DEHAL1" C6orf71 chromosome 6 open reading frame 71 2003-11-26 2006-08-24 2006-08-24 2014-11-18 389434 ENSG00000009765 OTTHUMG00000016347 uc003qnu.3 AK129950 NM_203395 "CCDS5227|CCDS55067|CCDS55066" Q6PHW0 "16316988|15289438" MGI:1917587 RGD:1309288 612025 201101 objectId:2488 HGNC:21071 "ENST00000344419.8|NM_203395.3" HGNC:21071 +HGNC:28539 IZUMO1 izumo sperm-egg fusion 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "IZUMO|MGC34799|OBF" oocyte binding/fusion factor "IZUMO family|Ig-like cell adhesion molecule family" "56|1410" 2005-06-01 2014-07-23 284359 ENSG00000182264 OTTHUMG00000183324 uc002pkj.3 BC034769 NM_182575 CCDS12732 Q8IYV9 "15759005|18952059|19658160|22957301" MGI:1920706 RGD:1565454 609278 HGNC:28539 "ENST00000332955.7|NM_182575.3" +HGNC:32565 IZUMO1R IZUMO1 receptor, JUNO protein-coding gene gene with protein product Approved 11q21 11q21 "Folbp3|JUNO" FOLR4 "folate receptor 4 (delta) homolog (mouse)|folate receptor 4, delta (putative)" Ig-like cell adhesion molecule family 1410 2008-12-08 2014-10-13 2014-10-13 2016-10-11 390243 ENSG00000183560 OTTHUMG00000167776 NM_001080486 CCDS81615 A6ND01 "11111049|24739963" MGI:1929185 RGD:1585174 615737 HGNC:32565 "ENST00000687084.1|NM_001199206.4" +HGNC:28518 IZUMO2 IZUMO family member 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MGC33947|SCRL" C19orf41 chromosome 19 open reading frame 41 IZUMO family 56 2006-04-03 2010-07-29 2010-07-29 2014-11-18 126123 ENSG00000161652 OTTHUMG00000074063 uc002prp.2 AY358196 NM_152358 CCDS12792 Q6UXV1 "19658160|22957301" MGI:1922760 RGD:1562619 618895 HGNC:28518 "ENST00000293405.8|NM_152358.3" +HGNC:31421 IZUMO3 IZUMO family member 3 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 bA20A20.1 C9orf134 chromosome 9 open reading frame 134 IZUMO family 56 2004-04-16 2010-07-29 2010-07-29 2015-08-25 100129669 ENSG00000205442 OTTHUMG00000019704 uc031tdg.1 NM_001271706 CCDS65020 Q5VZ72 "19658160|22957301" MGI:1916564 RGD:2324467 618896 HGNC:31421 "ENST00000543880.7|NM_001365008.2" +HGNC:26950 IZUMO4 IZUMO family member 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 C19orf36 chromosome 19 open reading frame 36 IZUMO family 56 2004-08-03 2010-07-29 2010-07-29 2015-08-25 113177 ENSG00000099840 OTTHUMG00000141290 uc002lux.2 BC014609 NM_052878 "CCDS42458|CCDS86690|CCDS35499" Q1ZYL8 "12975309|19658160|22957301" MGI:1918814 RGD:1564722 618897 HGNC:26950 "ENST00000395301.8|NM_001039846.2" +HGNC:30027 JADE1 jade family PHD finger 1 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 JADE-1 PHF17 PHD finger protein 17 PHD finger proteins 88 2004-03-01 2013-10-11 2013-10-11 2016-01-15 79960 ENSG00000077684 OTTHUMG00000161176 NM_024900 "CCDS75191|CCDS34062|CCDS47134" Q6IE81 "11347906|12169691" MGI:1925835 RGD:1306920 610514 HGNC:30027 "ENST00000226319.11|NM_199320.4" +HGNC:22984 JADE2 jade family PHD finger 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0239|JADE-2" PHF15 PHD finger protein 15 PHD finger proteins 88 2003-08-11 2013-10-11 2013-10-11 2016-10-05 23338 ENSG00000043143 OTTHUMG00000129122 AJ251833 NM_015288 "CCDS4176|CCDS75305|CCDS78061" Q9NQC1 MGI:1924151 RGD:1309152 610515 HGNC:22984 "ENST00000681547.2|NM_001388185.1" +HGNC:22982 JADE3 jade family PHD finger 3 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "KIAA0215|JADE-3" PHF16 PHD finger protein 16 PHD finger proteins 88 2003-08-08 2013-10-11 2013-10-11 2020-04-02 9767 ENSG00000102221 OTTHUMG00000021431 AF127774 NM_014735 CCDS14271 Q92613 11944989 MGI:2148019 RGD:1563945 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/JADE3 300618 HGNC:22982 "ENST00000614628.5|NM_014735.5" +HGNC:48601 JADRR JADE1 adjacent regulatory RNA non-coding RNA RNA, long non-coding Approved 4q28.2 04q28.2 lncRNA-JADE LINC00915 long intergenic non-protein coding RNA 915 Long non-coding RNAs with non-systematic symbols 1992 2013-05-24 2013-10-11 2013-10-11 2018-08-23 101669763 ENSG00000280711 OTTHUMG00000189573 KC469579 24097061 jadrr +HGNC:6188 JAG1 jagged canonical Notch ligand 1 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "AHD|AWS|HJ1|CD339" "AGS|JAGL1" "Alagille syndrome|jagged 1" "CD molecules|MicroRNA protein coding host genes" "471|1691" 1997-05-22 2019-01-03 2021-05-26 182 ENSG00000101384 OTTHUMG00000031872 uc002wnw.3 U61276 NM_000214 CCDS13112 P78504 "7697721|9207788" MGI:1095416 RGD:2937 "JAG1 database at LOVD-China|http://genomed.org/LOVD/ALGS/home.php?select_db=JAG1|LRG_1191|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1191.xml" 601920 122719 CD339 HGNC:6188 "ENST00000254958.10|NM_000214.3" HGNC:6188 +HGNC:6189 JAG2 jagged canonical Notch ligand 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 jagged 2 MicroRNA protein coding host genes 1691 1998-06-05 2019-01-03 2019-01-03 3714 ENSG00000184916 OTTHUMG00000140172 uc001yqg.4 AF020201 NM_002226 "CCDS9999|CCDS9998" Q9Y219 "9315665|10662552" MGI:1098270 RGD:2938 602570 HGNC:6189 "ENST00000331782.8|NM_002226.5" +HGNC:26926 JAGN1 jagunal homolog 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "GL009|FLJ14602" jagunal homolog 1 (Drosophila) 2005-01-19 2015-06-09 2021-05-26 84522 ENSG00000171135 OTTHUMG00000128523 uc003btt.5 AK074760 NM_032492 CCDS2588 Q8N5M9 "25129144|25129145|26882284" MGI:1915017 RGD:1565488 LRG_1228|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1228.xml 616012 431604 HGNC:26926 "ENST00000647897.1|NM_032492.4" HGNC:26926 +HGNC:6190 JAK1 Janus kinase 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "JAK1A|JTK3" JAK1B "FERM domain containing|Jak family tyrosine kinases" "1293|1459" 1992-04-16 2009-04-23 2021-11-24 3716 ENSG00000162434 OTTHUMG00000009310 uc001dbu.2 M64174 NM_002227 CCDS41346 P23458 "1848670|7698020" MGI:96628 RGD:69056 LRG_1398|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1398.xml JAK1 147795 objectId:2047 2.7.10.1 HGNC:6190 "ENST00000342505.5|NM_002227.4" +HGNC:6192 JAK2 Janus kinase 2 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 JTK10 "SH2 domain containing|FERM domain containing|Jak family tyrosine kinases" "741|1293|1459" 1992-04-16 2009-04-23 2021-05-26 3717 ENSG00000096968 OTTHUMG00000019490 uc003ziw.3 NM_001322194 CCDS6457 O60674 1848670 MGI:96629 RGD:2939 LRG_612|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_612.xml JAK2 147796 122727 objectId:2048 2.7.10.1 HGNC:6192 "ENST00000381652.4|NM_004972.4" HGNC:6192 +HGNC:6193 JAK3 Janus kinase 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "L-JAK|JAKL|LJAK|JAK3_HUMAN|JAK-3" "tyrosine-protein kinase JAK3|leukocyte Janus kinase" Jak family tyrosine kinases 1459 1994-12-19 2009-04-23 2021-05-26 3718 ENSG00000105639 OTTHUMG00000165648 uc002nhn.5 U31601 NM_000215 CCDS12366 P52333 "8921370|9226382" MGI:99928 RGD:2940 "JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency|http://structure.bmc.lu.se/idbase/JAK3base/|LRG_77|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_77.xml" JAK3 600173 122729 objectId:2049 2.7.10.1 HGNC:6193 "ENST00000458235.7|NM_000215.4" HGNC:6193 +HGNC:26460 JAKMIP1 janus kinase and microtubule interacting protein 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "MARLIN1|JAMIP1|Gababrbp|FLJ31564" 2006-02-23 2009-08-13 2014-11-18 152789 ENSG00000152969 OTTHUMG00000125491 uc003giv.5 AK056126 NM_144720 "CCDS47005|CCDS3385|CCDS77897" Q96N16 18941173 MGI:1923321 RGD:1562401 611195 HGNC:26460 "ENST00000409021.9|NM_001099433.2" +HGNC:27728 JAKMIP1-DT JAKMIP1 divergent transcript non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 LINC02495 long intergenic non-protein coding RNA 2495 Divergent transcripts 1990 2017-05-03 2021-04-12 2021-04-12 2021-04-12 285484 ENSG00000249896 OTTHUMG00000160216 NR_037863 HGNC:27728 +HGNC:29067 JAKMIP2 janus kinase and microtubule interacting protein 2 protein-coding gene gene with protein product Approved 5q32 05q32 "JAMIP2|KIAA0555" 2006-02-23 2009-08-13 2014-11-19 9832 ENSG00000176049 OTTHUMG00000129731 uc003loq.3 AB011127 NM_014790 "CCDS4285|CCDS64284|CCDS59495|CCDS75352" Q96AA8 9628581 MGI:1923467 RGD:1559742 611197 HGNC:29067 "ENST00000616793.5|NM_001270941.2" +HGNC:27203 JAKMIP2-AS1 JAKMIP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q32 05q32 JAKMIP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 153469 ENSG00000280780 OTTHUMG00000189513 uc003lop.2 AK027578 NR_038902 JAKMIP2-AS1 HGNC:27203 +HGNC:23523 JAKMIP3 Janus kinase and microtubule interacting protein 3 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "FLJ37857|NECC2|KIAA4091|bA140A10.5" neuroendocrine long coiled-coil 2 "C10orf39|C10orf14" "chromosome 10 open reading frame 39|chromosome 10 open reading frame 14" 2003-11-21 2008-01-28 2009-04-23 2015-09-01 282973 ENSG00000188385 OTTHUMG00000150167 uc001lkx.5 AL832756 NM_194303 CCDS44494 Q5VZ66 "15277531|17572408" MGI:1921254 RGD:1307177 611198 HGNC:23523 "ENST00000684848.1|NM_001323087.2" +HGNC:55678 JAKMIP3-AS1 JAKMIP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Antisense RNAs 1987 2021-07-01 2021-07-01 105378567 ENSG00000235010 XR_001747669 +HGNC:14686 JAM2 junctional adhesion molecule 2 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "VE-JAM|JAM-B|JAMB|CD322" C21orf43 "CD molecules|V-set domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "471|590|593|1410" 2001-04-25 2019-07-17 58494 ENSG00000154721 OTTHUMG00000078441 uc002ylp.3 AF255910 NM_001270407 "CCDS58788|CCDS58787|CCDS42911" P57087 "10779521|10945976" MGI:1933820 RGD:1561692 606870 CD322 HGNC:14686 "ENST00000480456.6|NM_021219.4" HGNC:14686 +HGNC:15532 JAM3 junctional adhesion molecule 3 protein-coding gene gene with protein product Approved 11q25 11q25 "JAM-C|JAMC" "V-set domain containing|Ig-like cell adhesion molecule family|Small nucleolar RNA protein coding host genes" "590|1410|1835" 2001-04-26 2016-04-25 83700 ENSG00000166086 OTTHUMG00000167130 uc001qhb.4 AF356518 NM_032801 "CCDS55799|CCDS8494" Q9BX67 MGI:1933825 RGD:1303248 606871 311118 HGNC:15532 "ENST00000299106.9|NM_032801.5" HGNC:15532 +HGNC:19084 JAML junction adhesion molecule like protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "Gm638|AMICA" AMICA1 adhesion molecule, interacts with CXADR antigen 1 "V-set domain containing|Ig-like cell adhesion molecule family" "590|1410" 2002-09-12 2015-11-24 2015-11-24 2020-04-20 120425 ENSG00000160593 OTTHUMG00000166965 uc001psi.3 "AY138965|AY358362" NM_153206 "CCDS8391|CCDS66240|CCDS41723" Q86YT9 12975309 MGI:2685484 RGD:1562572 609770 HGNC:19084 "ENST00000356289.10|NM_001098526.2" +HGNC:6196 JARID2 jumonji and AT-rich interaction domain containing 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 JMJ "jumonji (mouse) homolog|Jumonji, AT rich interactive domain 2|jumonji, AT rich interactive domain 2" "AT-rich interaction domain containing|Iron (II) and 2-oxoglutarate dependent oxygenases" "418|1368" 1997-09-05 2004-01-30 2015-11-17 2016-10-05 3720 ENSG00000008083 OTTHUMG00000014293 uc003nbj.5 U57592 NM_004973 "CCDS58996|CCDS4533" Q92833 8894700 MGI:104813 RGD:1591663 601594 HGNC:6196 "ENST00000341776.7|NM_004973.4" HGNC:6196 +HGNC:40314 JARID2-AS1 JARID2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 JARID2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2014-11-19 100506681 ENSG00000235488 OTTHUMG00000014292 uc003nbk.4 "AW340306|AW665239" NR_120502 JARID2-AS1 HGNC:40314 +HGNC:55240 JARID2-DT JARID2 divergent transcript non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 Divergent transcripts 1990 2020-09-16 2020-09-16 118597839 ENSG00000271888 +HGNC:28917 JAZF1 JAZF zinc finger 1 protein-coding gene gene with protein product Approved 7p15.2-p15.1 07p15.2-p15.1 "TIP27|DKFZp761K2222|ZNF802" "Zinc fingers C2H2-type|Tip60/Nua4 histone acetyltransferase complex subunits" "28|1634" 2006-10-05 2018-02-13 221895 ENSG00000153814 OTTHUMG00000128545 uc003szn.4 BC047229 NM_175061 CCDS5416 Q86VZ6 8401585 MGI:2141450 RGD:1589007 606246 364833 HGNC:28917 "ENST00000283928.10|NM_175061.4" +HGNC:41218 JAZF1-AS1 JAZF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p15.1 07p15.1 JAZF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2022-01-05 100128081 ENSG00000234336 OTTHUMG00000152771 uc064cjd.1 NR_034097 34978128 JAZF1-AS1 HGNC:41218 +HGNC:29283 JCAD junctional cadherin 5 associated protein-coding gene gene with protein product Approved 10p11.23 10p11.23 junctional protein associated with coronary artery disease KIAA1462 KIAA1462 2004-02-04 2017-05-04 2017-05-04 2017-05-04 57608 ENSG00000165757 OTTHUMG00000017885 uc001iux.4 AB040895 NM_020848 CCDS41500 Q9P266 "21884682|24349219" MGI:2685174 RGD:1562037 614398 HGNC:29283 "ENST00000375377.2|NM_020848.4" +HGNC:54491 JCADP1 JCAD pseudogene 1 pseudogene pseudogene Approved 21q22.2 21q22.2 2019-08-27 2019-08-27 729056 ENSG00000235012 OTTHUMG00000086715 NG_022000 PGOHUM00000297385 HGNC:54491 +HGNC:5713 JCHAIN joining chain of multimeric IgA and IgM protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "IGCJ|JCH" "immunoglobulin J chain|IgJ chain|J chain" IGJ immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 2001-06-22 2015-04-02 2015-04-02 2016-10-05 3512 ENSG00000132465 OTTHUMG00000129909 M12759 NM_144646 CCDS3545 P01591 "3016707|2984306" MGI:96493 RGD:1310155 147790 HGNC:5713 "ENST00000254801.9|NM_144646.4" +HGNC:5714 JCHAINP1 joining chain of multimeric IgA and IgM pseudogene 1 pseudogene pseudogene Approved 8q21.2 08q21.2 IGJP1 immunoglobulin J polypeptide pseudogene 1 1994-12-08 2018-08-08 2018-08-08 2018-08-08 3513 ENSG00000253655 OTTHUMG00000164783 S74134 NG_009863 7916122 PGOHUM00000249416 HGNC:5714 +HGNC:17546 JDP2 Jun dimerization protein 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 progesterone receptor co-activator JUNDM2 Basic leucine zipper proteins 506 2008-03-26 2008-04-10 2017-03-10 122953 ENSG00000140044 OTTHUMG00000171869 uc010tvc.3 AF111167 NM_130469 "CCDS9842|CCDS45139" Q8WYK2 "12052888|9154808|17545590" MGI:1932093 RGD:621611 608657 HGNC:17546 "ENST00000651602.1|NM_001135048.2" +HGNC:55424 JDP2-AS1 JDP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Antisense RNAs 1987 2021-01-07 2021-01-07 101928377 ENSG00000259319 XR_245788 +HGNC:26288 JHY junctional cadherin complex regulator protein-coding gene gene with protein product Approved 11q24.1 11q24.1 FLJ23554 juvenile hydrocephalus C11orf63 chromosome 11 open reading frame 63 2006-03-09 2017-10-02 2017-10-02 2020-05-04 79864 ENSG00000109944 OTTHUMG00000166027 uc001pym.5 BC068507 NM_024806 "CCDS8439|CCDS8438" Q6NUN7 23906841 MGI:1918239 RGD:1309108 617594 HGNC:26288 "ENST00000227349.7|NM_024806.4" +HGNC:20184 JKAMP JNK1/MAPK8 associated membrane protein protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "HSPC213|JAMP|HSPC327|CDA06" Jun N-terminal kinase 1-associated membrane protein C14orf100 chromosome 14 open reading frame 100 2002-12-20 2009-08-13 2017-09-14 2017-09-14 51528 ENSG00000050130 OTTHUMG00000171054 uc001xef.6 AF212245 NM_001098625 "CCDS61463|CCDS61462|CCDS45117|CCDS45116" Q9P055 "16166642|19269966" MGI:1915057 RGD:1308917 611176 HGNC:20184 "ENST00000616435.5|NM_016475.5" +HGNC:49759 JKAMPP1 JNK1/MAPK8-associated membrane protein pseudogene 1 pseudogene pseudogene Approved 9p23 09p23 2014-02-14 2014-02-14 100049717 ENSG00000231491 OTTHUMG00000019556 NG_006081 PGOHUM00000236387 HGNC:49759 +HGNC:12313 JMJD1C jumonji domain containing 1C protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "DKFZp761F0118|KIAA1380|FLJ14374|KDM3C" TRIP8 thyroid hormone receptor interactor 8 "Lysine demethylases|MicroRNA protein coding host genes" "485|1691" 1999-03-19 2004-04-01 2004-03-31 2019-10-24 221037 ENSG00000171988 OTTHUMG00000018311 uc001jmn.5 L40411 NM_004241 "CCDS41532|CCDS60538" Q15652 "7776974|24240613|31076406" MGI:1918614 RGD:708458 604503 410615 objectId:2663 HGNC:12313 "ENST00000399262.7|NM_032776.3" +HGNC:28222 JMJD1C-AS1 JMJD1C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q21.3 10q21.3 Antisense RNAs 1987 2013-02-07 2020-08-13 84989 ENSG00000272767 OTTHUMG00000186280 uc010qir.3 AK314171 NR_027182 12477932 JMJD1C-AS1 HGNC:28222 +HGNC:56170 JMJD1C-AS2 JMJD1C antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10q21.3 10q21.3 Antisense RNAs 1987 2022-01-14 2022-01-14 105378330 NR_134312 +HGNC:25724 JMJD4 jumonji domain containing 4 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 FLJ12517 "2-oxoglutarate- and Fe(II)-dependent oxygenase|C4 lysyl hydroxylase" JmjC hydroxylases 1346 2005-05-18 2015-01-12 65094 ENSG00000081692 OTTHUMG00000037698 uc057qak.1 AK022579 NM_023007 "CCDS1561|CCDS59203" Q9H9V9 24486019 MGI:2144404 RGD:1307186 HGNC:25724 "ENST00000620518.5|NM_023007.3" +HGNC:19355 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "PTDSR1|KIAA0585" PTDSR "phosphatidylserine receptor|jumonji domain containing 6" Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2002-10-09 2007-02-16 2018-07-12 2018-07-12 23210 ENSG00000070495 OTTHUMG00000169267 uc002jso.4 AB011157 NM_015167 "CCDS42383|CCDS42384" Q6NYC1 11877474 MGI:1858910 RGD:1305395 604914 objectId:2892 HGNC:19355 "ENST00000397625.9|NM_015167.3" +HGNC:34397 JMJD7 jumonji domain containing 7 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2008-07-08 2020-04-21 100137047 ENSG00000243789 OTTHUMG00000156810 uc001zon.3 NM_001114632 CCDS45240 P0C870 MGI:3845785 RGD:2290039 HGNC:34397 "ENST00000397299.9|NM_001114632.2" +HGNC:34449 JMJD7-PLA2G4B JMJD7-PLA2G4B readthrough other readthrough Approved 15q15.1 15q15.1 2008-09-10 2016-10-05 8681 ENSG00000168970 OTTHUMG00000044442 uc001zoo.5 NM_001198588 "MGI:2384819|MGI:3845785" HGNC:34449 +HGNC:14148 JMJD8 jumonji domain containing 8 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 C16orf20 chromosome 16 open reading frame 20 2000-12-21 2008-07-28 2008-07-28 2020-04-01 339123 ENSG00000161999 OTTHUMG00000172950 uc002ciw.2 NM_001005920 CCDS45369 Q96S16 MGI:1919356 RGD:1307381 HGNC:14148 "ENST00000609261.6|NM_001005920.4" +HGNC:28916 JMY junction mediating and regulatory protein, p53 cofactor protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "FLJ37870|WHAMM2" Wiskott-Aldrich Syndrome protein family 14 2009-02-06 2015-04-21 133746 ENSG00000152409 OTTHUMG00000131301 uc003kfx.5 AK095189 NM_152405 CCDS4047 Q8N9B5 "10518217|22316129" MGI:1913096 RGD:1585601 604279 HGNC:28916 "ENST00000396137.5|NM_152405.5" +HGNC:28953 JOSD1 Josephin domain containing 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 KIAA0063 MJD deubiquinating enzymes 997 2005-11-10 2015-08-25 9929 ENSG00000100221 OTTHUMG00000151030 uc003awf.4 NM_014876 CCDS13976 Q15040 7584044 MGI:1921408 RGD:1305388 615323 C86.004 HGNC:28953 "ENST00000683374.1|NM_001360236.2" +HGNC:28853 JOSD2 Josephin domain containing 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 SBBI54 MJD deubiquinating enzymes 997 2005-11-10 2019-08-20 126119 ENSG00000161677 OTTHUMG00000183062 uc002psp.3 AF247787 NM_138334 "CCDS12797|CCDS59413" Q8TAC2 MGI:1913374 RGD:1307305 615324 C86.005 HGNC:28853 "ENST00000598418.6|NM_001270639.2" +HGNC:14201 JPH1 junctophilin 1 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 JP-1 Junctophilins 1601 2000-12-08 2016-10-05 56704 ENSG00000104369 OTTHUMG00000164524 uc003yae.4 AB042634 NM_001317830 CCDS6217 Q9HDC5 "10891348|10949023" MGI:1891495 RGD:1308789 605266 470526 HGNC:14201 "ENST00000342232.5|NM_020647.4" +HGNC:14202 JPH2 junctophilin 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 JP-2 Junctophilins 1601 2000-12-08 2021-04-13 57158 ENSG00000149596 OTTHUMG00000033037 uc002xli.2 AL034419 NM_020433 "CCDS13325|CCDS13326" Q9BR39 "10891348|10949023" MGI:1891496 RGD:1305196 LRG_394|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_394.xml 605267 264428 HGNC:14202 "ENST00000372980.4|NM_020433.5" HGNC:14202 +HGNC:14203 JPH3 junctophilin 3 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "JP-3|CAGL237|HDL2|JP3" TNRC22 trinucleotide repeat containing 22 Junctophilins 1601 2000-12-08 2002-11-13 2021-05-26 57338 ENSG00000154118 OTTHUMG00000137656 uc002fkd.5 AB042636 NM_001271604 CCDS10962 Q8WXH2 "10949023|10891348" MGI:1891497 RGD:1308416 605268 122737 HGNC:14203 "ENST00000284262.3|NM_020655.4" HGNC:14203 +HGNC:20156 JPH4 junctophilin 4 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 KIAA1831 JPHL1 junctophilin like 1 Junctophilins 1601 2002-12-18 2004-05-28 2004-05-28 2016-10-05 84502 ENSG00000092051 OTTHUMG00000028769 uc001wkr.2 AB058734 NM_032452 CCDS9603 Q96JJ6 11347906 MGI:2443113 RGD:1303170 HGNC:20156 "ENST00000356300.9|NM_001146028.2" +HGNC:14569 JPT1 Jupiter microtubule associated homolog 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "ARM2|HN1A" androgen-regulated protein 2 HN1 hematological and neurological expressed 1 2001-02-08 2017-03-23 2017-03-23 2017-03-23 51155 ENSG00000189159 OTTHUMG00000154521 uc002jna.3 AF086910 NM_001002032 "CCDS45771|CCDS32729|CCDS45772" Q9UK76 "15094197|16518797" MGI:1096361 RGD:1359325 619242 HGNC:14569 "ENST00000409753.8|NM_016185.4" +HGNC:54768 JPT1P1 JPT1 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 2020-01-08 2020-01-08 100130171 ENSG00000213148 NG_030139 +HGNC:14137 JPT2 Jupiter microtubule associated homolog 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ13092|L11|KIAA1426" "C16orf34|HN1L" "chromosome 16 open reading frame 34|hematological and neurological expressed 1-like|hematological and neurological expressed 1 like" 2000-12-21 2017-03-23 2017-03-23 2020-04-20 90861 ENSG00000206053 OTTHUMG00000047859 uc002cmg.4 AK023154 NM_144570 CCDS10441 Q9H910 "15094197|16518797" MGI:1196260 RGD:1305117 619241 HGNC:14137 "ENST00000248098.8|NM_144570.3" +HGNC:37191 JPX JPX transcript, XIST activator non-coding RNA RNA, long non-coding Approved Xq13.2 Xq13.2 "ENOX|LINC00183|DCBALD06" "just proximal to XIST|expressed neighbor of XIST" NCRNA00183 "non-protein coding RNA 183|JPX transcript, XIST activator (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2009-08-18 2011-04-21 2018-05-16 2018-05-16 554203 ENSG00000225470 OTTHUMG00000021840 uc004ebp.4 AV714079 NR_024582 "21029862|21254562" MGI:2180008 RGD:7726681 300832 Jpx JPX HGNC:37191 +HGNC:6199 JRK Jrk helix-turn-helix protein protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "JH8|jerky" "jerky (mouse) homolog|jerky homolog (mouse)|Jrk homolog (mouse)" "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 1998-11-12 2015-06-19 2016-10-25 8629 ENSG00000234616 OTTHUMG00000160911 uc033cbj.1 AF072467 NM_003724 "CCDS75797|CCDS75796" O75564 9675132 MGI:106214 RGD:1306316 603210 168319 HGNC:6199 "ENST00000612905.2|NM_003724.4" +HGNC:6200 JRKL JRK like protein-coding gene gene with protein product Approved 11q21 11q21 HHMJG "jerky (mouse) homolog-like|jerky homolog-like (mouse)" "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 1998-11-12 2017-06-13 2021-06-24 8690 ENSG00000183340 OTTHUMG00000154950 uc009ywu.5 AF004715 NM_003772 CCDS8308 Q9Y4A0 9240447 MGI:1924782 RGD:1308986 603211 HGNC:6200 "ENST00000332349.5|NM_001261833.2" +HGNC:43670 JRKL-AS1 JRKL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q21 11q21 JRKL antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-30 2012-08-15 2012-10-12 100874053 ENSG00000255679 OTTHUMG00000167708 uc058gss.1 "AL706355|BE972282" NR_047481 JRKL-AS1 HGNC:43670 +HGNC:24963 JSRP1 junctional sarcoplasmic reticulum protein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "JP-45|FLJ32416" homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45 2006-02-17 2014-11-19 126306 ENSG00000167476 OTTHUMG00000180413 uc002lvj.3 AK056978 NM_144616 CCDS12086 Q96MG2 12871958 MGI:1916700 RGD:1596084 608743 HGNC:24963 "ENST00000300961.10|NM_144616.4" +HGNC:6201 JTB jumping translocation breakpoint protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "hJT|PAR" prostate androgen-regulated gene 2000-01-31 2018-06-11 10899 ENSG00000143543 OTTHUMG00000036590 uc001fds.4 AB016488 NM_006694 CCDS1057 O76095 "10321732|27751357|22079049" MGI:1346082 RGD:2942 604671 HGNC:6201 "ENST00000271843.9|NM_006694.4" +HGNC:56047 JTB-DT JTB divergent transcript non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 Divergent transcripts 1990 2021-12-08 2021-12-08 123706540 ENSG00000272654 +HGNC:39180 JTBP1 jumping translocation breakpoint pseudogene 1 pseudogene pseudogene Approved 22q13.2 22q13.2 2010-11-16 2010-11-16 100874254 ENSG00000233603 OTTHUMG00000155620 NG_032231 PGOHUM00000246593 HGNC:39180 +HGNC:6204 JUN Jun proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 1p32.1 01p32.1 "c-Jun|AP-1" "v-jun avian sarcoma virus 17 oncogene homolog|jun oncogene" "Basic leucine zipper proteins|Jun transcription factor family" "506|1257" 1988-05-11 2016-05-03 2016-10-05 3725 ENSG00000177606 OTTHUMG00000008376 uc001cze.4 AY217548 NM_002228 CCDS610 P05412 3194415 MGI:96646 RGD:2943 JUN 165160 HGNC:6204 "ENST00000371222.4|NM_002228.4" +HGNC:6205 JUNB JunB proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "Basic leucine zipper proteins|Jun transcription factor family" "506|1257" 1990-09-10 2016-05-03 2019-08-20 3726 ENSG00000171223 OTTHUMG00000180373 uc002mvc.4 M29039 NM_002229 CCDS12280 P17275 2513129 MGI:96647 RGD:2944 165161 HGNC:6205 "ENST00000302754.6|NM_002229.3" +HGNC:6206 JUND JunD proto-oncogene, AP-1 transcription factor subunit protein-coding gene gene with protein product Approved 19p13.11 19p13.11 AP-1 "transcription factor jun-D|JunD-FL isoform|activator protein 1" "Basic leucine zipper proteins|Jun transcription factor family" "506|1257" 1990-09-10 2016-05-03 2016-10-11 3727 ENSG00000130522 OTTHUMG00000183355 uc002nip.4 NM_005354 CCDS32959 P17535 "2112242|1903194" MGI:96648 RGD:2945 165162 HGNC:6206 "ENST00000252818.5|NM_005354.6" +HGNC:6207 JUP junction plakoglobin protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "DP3|PDGB|PKGB|DPIII|PG" desmosomal protein 3 CTNNG catenin (cadherin-associated protein), gamma 80kDa "Armadillo repeat containing|Beta catenins" "409|1542" 1991-03-04 2004-08-09 2021-05-26 3728 ENSG00000173801 OTTHUMG00000133494 uc002hxs.3 AF233882 NM_001352773 CCDS11407 P14923 "1889810|7604000" MGI:96650 RGD:620412 "Gene Connection for the Heart; Naxos disease database|http://www.fsm.it/cardmoc/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/JUP|LRG_401|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_401.xml" 173325 122744 HGNC:6207 "ENST00000393931.8|NM_002230.4" HGNC:6207 +HGNC:21031 KAAG1 kidney associated DCDC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 "RU2|RU2AS" kidney associated antigen 1 Long non-coding RNAs with non-systematic symbols 1992 2003-05-20 2022-02-21 2022-02-21 353219 ENSG00000146049 OTTHUMG00000014354 uc003ndz.1 AF181722 NR_174942 CCDS4551 Q9UBP8 10601354 608211 HGNC:21031 "ENST00000274766.2|NM_181337.4" +HGNC:4814 KALRN kalirin RhoGEF kinase protein-coding gene gene with protein product Approved 3q21.1-q21.2 03q21.1-q21.2 "duo|Hs.8004|TRAD|DUET|Kalirin|ARHGEF24" serine/threonine kinase with Dbl and pleckstrin homology domains HAPIP huntingtin-associated protein interacting protein (duo) "Fibronectin type III domain containing|I-set domain containing|Dbl family Rho GEFs|MicroRNA protein coding host genes" "555|593|722|1691" 1999-01-13 2005-03-12 2017-04-27 2018-02-13 8997 ENSG00000160145 OTTHUMG00000125545 uc062neo.1 U94190 NM_003947 "CCDS3027|CCDS3028|CCDS82829" O60229 "9285789|10023074" MGI:2685385 RGD:621865 604605 objectId:2050 HGNC:4814 "ENST00000682506.1|NM_001388419.1" +HGNC:19309 KANK1 KN motif and ankyrin repeat domains 1 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "KIAA0172|KANK" ANKRD15 ankyrin repeat domain 15 KN motif and ankyrin repeat domain containing 623 2003-11-18 2008-01-29 2008-01-29 2021-05-26 23189 ENSG00000107104 OTTHUMG00000019434 uc003zgl.3 AL833161 NM_015158 "CCDS6441|CCDS34976" Q14678 "12133830|17996375|19554261" MGI:2147707 RGD:1307714 607704 160296 HGNC:19309 "ENST00000382297.7|NM_015158.5" HGNC:19309 +HGNC:52337 KANK1P1 KN motif and ankyrin repeat domains 1 pseudogene 1 pseudogene pseudogene Approved 20p12.3 20p12.3 2016-07-25 2016-07-25 100862705 ENSG00000215589 OTTHUMG00000031815 NG_032127 PGOHUM00000296891 HGNC:52337 +HGNC:29300 KANK2 KN motif and ankyrin repeat domains 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 KIAA1518 "MXRA3|ANKRD25" "matrix-remodelling associated 3|ankyrin repeat domain 25" KN motif and ankyrin repeat domain containing 623 2004-02-02 2008-01-29 2008-01-29 2020-04-01 25959 ENSG00000197256 OTTHUMG00000180799 uc002mqo.5 AK000011 NM_015493 "CCDS54219|CCDS12255" Q63ZY3 "10819331|17996375|19554261" MGI:2384568 RGD:2320289 614610 431623 HGNC:29300 "ENST00000586659.6|NM_001136191.3" HGNC:29300 +HGNC:24796 KANK3 KN motif and ankyrin repeat domains 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ46061 ANKRD47 ankyrin repeat domain 47 KN motif and ankyrin repeat domain containing 623 2005-08-01 2008-01-29 2008-01-29 2020-04-01 256949 ENSG00000186994 OTTHUMG00000182461 uc010dwa.3 AK128815 NM_198471 CCDS12199 Q6NY19 "17996375|19554261" MGI:1098615 RGD:1308853 614611 HGNC:24796 "ENST00000330915.7|NM_198471.3" +HGNC:27263 KANK4 KN motif and ankyrin repeat domains 4 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 KIAA0172 ANKRD38 ankyrin repeat domain 38 KN motif and ankyrin repeat domain containing 623 2005-05-23 2008-01-29 2008-01-29 2014-11-18 163782 ENSG00000132854 OTTHUMG00000008971 uc001dah.5 AK096259 NM_181712 "CCDS620|CCDS81334" Q5T7N3 "17996375|19554261" MGI:3043381 RGD:1307635 614612 HGNC:27263 "ENST00000371153.9|NM_181712.5" +HGNC:24565 KANSL1 KAT8 regulatory NSL complex subunit 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "DKFZP727C091|MSL1v1|CENP-36|NSL1" centromere protein 36 KIAA1267 KIAA1267 NSL histone acetyltransferase complex 1482 2005-12-16 2012-02-20 2012-02-20 2021-05-26 284058 ENSG00000120071 OTTHUMG00000178026 uc060gju.1 BX538006 NM_015443 "CCDS74084|CCDS11503" Q7Z3B3 10574462 MGI:1923969 RGD:1311429 612452 303739 HGNC:24565 "ENST00000432791.7|NM_015443.4" HGNC:24565 +HGNC:43740 KANSL1-AS1 KANSL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 KANSL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-20 2012-08-15 2012-10-12 644246 ENSG00000214401 OTTHUMG00000178028 uc002ike.4 NR_034172 KANSL1-AS1 HGNC:43740 +HGNC:26310 KANSL1L KAT8 regulatory NSL complex subunit 1 like protein-coding gene gene with protein product Approved 2q34 02q34 "FLJ23861|FLJ32349|MSL1v2|KIAA1267L" KIAA1267-like C2orf67 "chromosome 2 open reading frame 67|KAT8 regulatory NSL complex subunit 1-like" 2008-02-21 2012-02-20 2015-11-12 2015-11-12 151050 ENSG00000144445 OTTHUMG00000154697 uc002vds.4 AK074441 NM_152519 "CCDS33370|CCDS77519" A0AUZ9 12477932 MGI:1915941 RGD:1590799 613833 HGNC:26310 "ENST00000281772.14|NM_152519.4" +HGNC:41139 KANSL1L-AS1 KANSL1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q34 02q34 Antisense RNAs 1987 2019-07-24 2019-07-24 101928020 ENSG00000229127 OTTHUMG00000154698 NR_110291 HGNC:41139 +HGNC:26024 KANSL2 KAT8 regulatory NSL complex subunit 2 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "FLJ20436|NSL2" C12orf41 chromosome 12 open reading frame 41 "NSL histone acetyltransferase complex|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1482|1691|1835" 2006-01-23 2011-10-31 2011-10-31 2018-06-04 54934 ENSG00000139620 OTTHUMG00000170392 uc001rrx.4 AK094528 NM_017822 CCDS44869 Q9H9L4 24788516 MGI:1916862 RGD:1303127 615488 470528 HGNC:26024 "ENST00000420613.7|NM_017822.4" +HGNC:25473 KANSL3 KAT8 regulatory NSL complex subunit 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "FLJ10081|Rcd1|NSL3" KIAA1310 KIAA1310 NSL histone acetyltransferase complex 1482 2007-11-27 2011-10-31 2011-10-31 2014-11-19 55683 ENSG00000114982 OTTHUMG00000155249 uc002swn.6 BC063792 NM_017991 CCDS46361 Q9P2N6 MGI:1918055 RGD:1309220 617742 HGNC:25473 "ENST00000431828.6|NM_001115016.3" +HGNC:49510 KANTR KANTR integral membrane protein protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 Spasm LINC01155 "long intergenic non-protein coding RNA 1155|KDM5C adjacent non-coding transcript|KDM5C adjacent transcript" 2014-01-01 2014-05-20 2021-11-18 2021-11-18 102723508 ENSG00000232593 OTTHUMG00000021603 "EF565109|CF994433" NM_001397448 "24381249|29106417" MGI:1920247 RGD:10045415 301019 HGNC:49510 +HGNC:6215 KARS1 lysyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 KARS2 lysine tRNA ligase "DFNB89|KARS" "deafness, autosomal recessive 89|lysyl-tRNA synthetase" Aminoacyl tRNA synthetases, Class II 132 1995-07-11 2019-07-15 2019-07-15 2021-05-26 3735 ENSG00000065427 OTTHUMG00000137609 uc002fer.4 AF285758 NM_005548 "CCDS10923|CCDS45532" Q15046 "8812440|9278442|23768514" MGI:1934754 RGD:1359653 LRG_366|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_366.xml 601421 266184 6.1.1.6 HGNC:6215 "ENST00000302445.8|NM_005548.3" HGNC:6215 +HGNC:39207 KARS1P1 lysyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 KARSP1 lysyl-tRNA synthetase pseudogene 1 2010-11-23 2019-07-15 2019-07-15 2019-07-15 100419558 ENSG00000229696 OTTHUMG00000016797 NG_024918 PGOHUM00000248573 HGNC:39207 +HGNC:39208 KARS1P2 lysyl-tRNA synthetase 1 pseudogene 2 pseudogene pseudogene Approved 13q34 13q34 KARSP2 lysyl-tRNA synthetase pseudogene 2 2010-11-23 2019-07-15 2019-07-15 2019-07-15 100419560 ENSG00000230371 OTTHUMG00000017375 NG_024951 PGOHUM00000248686 HGNC:39208 +HGNC:39209 KARS1P3 lysyl-tRNA synthetase 1 pseudogene 3 pseudogene pseudogene Approved 16q22.1 16q22.1 KARSP3 lysyl-tRNA synthetase pseudogene 3 2010-11-23 2019-07-15 2019-07-15 2019-07-15 100132079 ENSG00000262962 OTTHUMG00000177459 NG_028877 PGOHUM00000248914 HGNC:39209 +HGNC:26520 KASH5 KASH domain containing 5 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FLJ32658 CCDC155 coiled-coil domain containing 155 KASH domain containing 2010 2008-08-07 2020-01-31 2020-01-31 2020-01-31 147872 ENSG00000161609 OTTHUMG00000183170 uc002pnm.3 NM_144688 CCDS46140 Q8N6L0 MGI:2687329 RGD:1561972 618125 HGNC:26520 "ENST00000447857.8|NM_144688.5" +HGNC:4201 KAT2A lysine acetyltransferase 2A protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "GCN5|PCAF-b" GCN5L2 "GCN5 general control of amino-acid synthesis 5-like 2 (yeast)|K(lysine) acetyltransferase 2A" "Lysine acetyltransferases|ATAC complex|SAGA complex|GCN5 related N-acetyltransferases|Bromodomain containing" "486|1058|1059|1134|1232" 1996-12-17 2008-07-04 2016-02-12 2016-10-05 2648 ENSG00000108773 OTTHUMG00000133504 uc002hyx.3 AF029777 NM_021078 CCDS11417 Q92830 8552087 MGI:1343101 RGD:1307242 602301 objectId:2736 HGNC:4201 "ENST00000225916.10|NM_021078.3" +HGNC:8638 KAT2B lysine acetyltransferase 2B protein-coding gene gene with protein product Approved 3p24.3 03p24.3 "P/CAF|GCN5|GCN5L" PCAF "p300/CBP-associated factor|K(lysine) acetyltransferase 2B" "Lysine acetyltransferases|ATAC complex|SAGA complex|GCN5 related N-acetyltransferases|Bromodomain containing|MicroRNA protein coding host genes" "486|1058|1059|1134|1232|1691" 1999-02-10 2008-07-04 2016-02-12 2016-10-05 8850 ENSG00000114166 OTTHUMG00000130481 uc003cbq.4 U57316 NM_003884 CCDS2634 Q92831 "8684459|9722949" MGI:1343094 RGD:1305902 602303 objectId:2737 HGNC:8638 "ENST00000263754.5|NM_003884.5" +HGNC:5275 KAT5 lysine acetyltransferase 5 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "TIP60|PLIP|cPLA2|HTATIP1|ESA1|ZC2HC5" "Tat interacting protein, 60kDa|K-acetyltransferase 5" HTATIP "HIV-1 Tat interactive protein, 60kDa|K(lysine) acetyltransferase 5" "Zinc fingers C2HC-type|MYST type domain containing lysine acetyltransferases|Tip60/Nua4 histone acetyltransferase complex subunits" "66|1584|1634" 2000-04-13 2008-07-04 2016-02-12 2016-10-05 10524 ENSG00000172977 OTTHUMG00000166617 uc001ofi.4 U74667 NM_006388 "CCDS31610|CCDS55771|CCDS8110|CCDS8109" Q92993 8607265 MGI:1932051 RGD:621061 601409 objectId:2664 HGNC:5275 "ENST00000341318.9|NM_182710.3" HGNC:5275 +HGNC:13013 KAT6A lysine acetyltransferase 6A protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "MOZ|ZC2HC6A" Monocytic leukemia zinc finger protein "ZNF220|RUNXBP2|MYST3" "runt-related transcription factor binding protein 2|MYST histone acetyltransferase (monocytic leukemia) 3|K(lysine) acetyltransferase 6A" "Zinc fingers C2HC-type|PHD finger proteins|MYST type domain containing lysine acetyltransferases" "66|88|1584" 1999-09-29 2011-07-21 2016-02-12 2021-05-26 7994 ENSG00000083168 OTTHUMG00000150453 uc010lxc.3 U47742 NM_006766 "CCDS83290|CCDS6124" Q92794 "8849440|8782817" MGI:2442415 RGD:1304892 KAT6A 601408 376575 objectId:2665 HGNC:13013 "ENST00000265713.8|NM_006766.5" HGNC:13013 +HGNC:56157 KAT6A-AS1 KAT6A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p11.21 08p11.21 Antisense RNAs 1987 2022-01-13 2022-01-13 105379393 NR_136589 +HGNC:17582 KAT6B lysine acetyltransferase 6B protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "querkopf|qkf|Morf|MOZ2|ZC2HC6B" MOZ-related factor MYST4 "MYST histone acetyltransferase (monocytic leukemia) 4|K(lysine) acetyltransferase 6B" "Zinc fingers C2HC-type|PHD finger proteins|MYST type domain containing lysine acetyltransferases" "66|88|1584" 2003-06-03 2011-07-21 2016-02-12 2021-05-26 23522 ENSG00000156650 OTTHUMG00000018509 uc001jwn.3 AF113514 NM_012330 "CCDS58085|CCDS7345|CCDS58084" Q8WYB5 "9205841|10497217" MGI:1858746 RGD:1566399 KAT6B 605880 285156 objectId:2666 HGNC:17582 "ENST00000287239.10|NM_012330.4" HGNC:17582 +HGNC:17016 KAT7 lysine acetyltransferase 7 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "HBOA|HBO1|ZC2HC7" histone acetyltransferase binding to ORC1 MYST2 "MYST histone acetyltransferase 2|K(lysine) acetyltransferase 7" "Zinc fingers C2HC-type|MYST type domain containing lysine acetyltransferases" "66|1584" 2003-06-03 2011-07-21 2016-02-12 2016-10-05 11143 ENSG00000136504 OTTHUMG00000161770 uc002ipm.4 AF074606 NM_007067 "CCDS56038|CCDS56035|CCDS11554|CCDS56037|CCDS56036" O95251 "10438470|10930412" MGI:2182799 RGD:727966 609880 objectId:2667 2.3.1.48 HGNC:17016 "ENST00000259021.9|NM_007067.5" +HGNC:55026 KAT7P1 KAT7 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-28 2020-05-28 648927 ENSG00000232842 NG_030159 +HGNC:17933 KAT8 lysine acetyltransferase 8 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "MOF|FLJ14040|hMOF|ZC2HC8" MYST1 "MYST histone acetyltransferase 1|K(lysine) acetyltransferase 8" "Zinc fingers C2HC-type|MSL histone acetyltransferase complex|NSL histone acetyltransferase complex|MYST type domain containing lysine acetyltransferases" "66|1481|1482|1584" 2002-08-06 2011-07-21 2016-02-12 2016-10-05 84148 ENSG00000103510 OTTHUMG00000132410 uc002eay.4 AF217501 NM_032188 "CCDS45468|CCDS10706" Q9H7Z6 10786633 MGI:1915023 RGD:1311512 609912 objectId:2668 2.3.1.48 HGNC:17933 "ENST00000219797.9|NM_032188.3" HGNC:17933 +HGNC:15904 KAT14 lysine acetyltransferase 14 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "CRP2BP|dJ717M23.1|PRO1194|ATAC2" "cysteine rich protein 2 binding protein|ATAC component 2 homolog (Drosophila)" CSRP2BP CSRP2 binding protein "Lysine acetyltransferases|ATAC complex|GCN5 related N-acetyltransferases" "486|1058|1134" 2001-06-21 2016-04-25 2016-04-25 2020-11-17 57325 ENSG00000149474 OTTHUMG00000031962 uc021wbb.2 AF252257 NM_020536 CCDS13133 Q9H8E8 "9286703|10924333|19103755" MGI:1917264 RGD:1309538 617501 HGNC:15904 "ENST00000688188.1|NM_001392073.1" +HGNC:6216 KATNA1 katanin catalytic subunit A1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "katanin p60 (ATPase-containing) subunit A 1|katanin p60 (ATPase containing) subunit A 1" AAA ATPases 413 1999-08-25 2016-03-21 2016-10-05 11104 ENSG00000186625 OTTHUMG00000015787 uc003qms.4 AF056022 NM_007044 "CCDS56456|CCDS5217" O75449 9658175 MGI:1344353 RGD:1303062 606696 objectId:2912 HGNC:6216 "ENST00000367411.7|NM_007044.4" +HGNC:28361 KATNAL1 katanin catalytic subunit A1 like 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 MGC2599 "katanin p60 subunit A-like 1|katanin p60 subunit A like 1|katanin catalytic subunit A like 1" AAA ATPases 413 2004-03-16 2016-03-21 2016-03-21 84056 ENSG00000102781 OTTHUMG00000016665 uc001ust.5 AK097423 NM_032116 CCDS31956 Q9BW62 19302785 MGI:2387638 RGD:1359252 614764 HGNC:28361 "ENST00000380615.8|NM_032116.5" +HGNC:25387 KATNAL2 katanin catalytic subunit A1 like 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "MGC33211|DKFZP667C165" "katanin p60 subunit A-like 2|katanin p60 subunit A like 2|katanin catalytic subunit A like 2" AAA ATPases 413 2005-01-14 2016-03-21 2018-06-04 83473 ENSG00000167216 OTTHUMG00000179408 uc060ows.1 BC034999 NM_031303 CCDS32828 Q8IYT4 26153462 MGI:1924234 RGD:1564708 614697 470530 HGNC:25387 "ENST00000683218.1|NM_001387690.1" HGNC:25387 +HGNC:6217 KATNB1 katanin regulatory subunit B1 protein-coding gene gene with protein product Approved 16q21 16q21 "katanin p80 (WD40-containing) subunit B 1|katanin p80 (WD repeat containing) subunit B 1" WD repeat domain containing 362 1999-08-25 2016-03-21 2021-05-26 10300 ENSG00000140854 OTTHUMG00000133467 uc002eml.2 AF052432 NM_005886 CCDS10788 Q9BVA0 9568719 MGI:1921437 RGD:1311256 602703 448624 HGNC:6217 "ENST00000379661.8|NM_005886.3" HGNC:6217 +HGNC:26199 KATNBL1 katanin regulatory subunit B1 like 1 protein-coding gene gene with protein product Approved 15q14 15q14 FLJ22557 C15orf29 "chromosome 15 open reading frame 29|katanin p80 subunit B-like 1" 2004-07-02 2012-09-27 2016-03-21 2016-10-05 79768 ENSG00000134152 OTTHUMG00000129368 uc001zhp.4 AL136908 NM_024713 CCDS10034 Q9H079 11230166 MGI:1919675 RGD:1582771 616235 HGNC:26199 "ENST00000256544.8|NM_024713.3" +HGNC:39724 KATNBL1P1 katanin regulatory subunit B1 like 1 pseudogene 1 pseudogene pseudogene Approved 13q12.2 13q12.2 katanin p80 subunit B-like 1 pseudogene 1 2013-08-19 2016-03-21 2016-03-21 100420919 ENSG00000271026 OTTHUMG00000184858 NG_024907 PGOHUM00000292114 HGNC:39724 +HGNC:49052 KATNBL1P2 katanin regulatory subunit B1 like 1 pseudogene 2 pseudogene pseudogene Approved 1p21.3 01p21.3 katanin p80 subunit B-like 1 pseudogene 2 2013-08-19 2016-03-21 2016-03-21 100130235 ENSG00000232857 OTTHUMG00000010704 NG_022729 PGOHUM00000295761 HGNC:49052 +HGNC:49053 KATNBL1P3 katanin regulatory subunit B1 like 1 pseudogene 3 pseudogene pseudogene Approved 18p11.32 18p11.32 katanin p80 subunit B-like 1 pseudogene 3 2013-08-19 2016-03-21 2016-03-21 100420946 ENSG00000235422 OTTHUMG00000178276 NG_026267 PGOHUM00000294566 HGNC:49053 +HGNC:49054 KATNBL1P4 katanin regulatory subunit B1 like 1 pseudogene 4 pseudogene pseudogene Approved 5q11.2 05q11.2 katanin p80 subunit B-like 1 pseudogene 4 2013-08-19 2016-03-21 2016-03-21 100128982 ENSG00000249270 OTTHUMG00000160384 NG_021880 PGOHUM00000300946 HGNC:49054 +HGNC:49055 KATNBL1P5 katanin regulatory subunit B1 like 1 pseudogene 5 pseudogene pseudogene Approved 6p22.2 06p22.2 katanin p80 subunit B-like 1 pseudogene 5 2013-08-19 2016-03-21 2016-03-21 100420841 ENSG00000271108 OTTHUMG00000184546 NG_025906 PGOHUM00000301685 HGNC:49055 +HGNC:49056 KATNBL1P6 katanin regulatory subunit B1 like 1 pseudogene 6 pseudogene pseudogene Approved 6q24.3 06q24.3 katanin p80 subunit B-like 1 pseudogene 6 2013-08-19 2016-03-21 2016-03-21 729176 ENSG00000228283 OTTHUMG00000015759 NR_003954 PGOHUM00000301588 HGNC:49056 +HGNC:29068 KATNIP katanin interacting protein protein-coding gene gene with protein product Approved 16p12.1 16p12.1 JBTS26 KIAA0556 KIAA0556 2006-08-25 2020-04-02 2020-04-02 2020-04-02 23247 ENSG00000047578 OTTHUMG00000176780 uc002dow.4 AB011128 NM_015202 CCDS32415 O60303 "9628581|26714646" MGI:2442760 RGD:1595846 616650 448873 HGNC:29068 "ENST00000261588.10|NM_015202.5" HGNC:29068 +HGNC:25460 KAZALD1 Kazal type serine peptidase inhibitor domain 1 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FKSG40|FKSG28" "Kazal-type serine protease inhibitor domain 1|Kazal-type serine peptidase inhibitor domain 1" I-set domain containing 593 2004-04-21 2016-02-01 2016-10-05 81621 ENSG00000107821 OTTHUMG00000018918 uc001ksr.4 AF333487 NM_030929 CCDS7509 Q96I82 12975309 MGI:2147606 RGD:1310698 609208 HGNC:25460 "ENST00000370200.6|NM_030929.5" +HGNC:29173 KAZN kazrin, periplakin interacting protein protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "KIAA1026|KAZRIN|FLJ43806" C1orf196 chromosome 1 open reading frame 196 Sterile alpha motif domain containing 760 2011-01-31 2011-01-31 2019-06-26 23254 ENSG00000189337 OTTHUMG00000002042 uc001avm.5 AY505119 NM_001017999 "CCDS41267|CCDS41268|CCDS152|CCDS30604" Q674X7 "15337775|18840647" MGI:1918779 RGD:1359147 618301 HGNC:29173 "ENST00000376030.7|NM_201628.3" +HGNC:53610 KAZN-AS1 KAZN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 ENST00000447908 Antisense RNAs 1987 2017-07-05 2017-07-05 105376762 ENSG00000234593 OTTHUMG00000002044 NR_149058 26975198 HGNC:53610 +HGNC:21751 KBTBD2 kelch repeat and BTB domain containing 2 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 DKFZP566C134 BKLHD1 "BTB and kelch domain containing 1|kelch repeat and BTB (POZ) domain containing 2" BTB domain containing 861 2003-07-22 2003-12-12 2016-02-12 2018-11-16 25948 ENSG00000170852 OTTHUMG00000152984 uc003tdb.3 AB040922 NM_015483 CCDS34614 Q8IY47 10819331 MGI:2384811 RGD:1310317 619393 HGNC:21751 "ENST00000304056.9|NM_015483.3" +HGNC:22934 KBTBD3 kelch repeat and BTB domain containing 3 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 BKLHD3 "BTB and kelch domain containing 3|kelch repeat and BTB (POZ) domain containing 3" BTB domain containing 861 2003-07-23 2003-12-17 2016-02-12 2020-04-01 143879 ENSG00000182359 OTTHUMG00000166251 uc001pjb.4 AK055247 NM_152433 "CCDS8334|CCDS81621" Q8NAB2 MGI:1916399 RGD:1310895 HGNC:22934 "ENST00000531837.2|NM_198439.3" +HGNC:23761 KBTBD4 kelch repeat and BTB domain containing 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FLJ10450|HSPC252" BKLHD4 "BTB and kelch domain containing 4|kelch repeat and BTB (POZ) domain containing 4" BTB domain containing 861 2003-12-08 2003-12-17 2016-02-12 2016-02-12 55709 ENSG00000123444 OTTHUMG00000166894 uc001nfx.4 AF151086 NM_016506 "CCDS81566|CCDS7940|CCDS44594" Q9NVX7 11042152 MGI:1914386 RGD:1310234 617645 HGNC:23761 "ENST00000430070.7|NM_018095.6" +HGNC:25340 KBTBD6 kelch repeat and BTB domain containing 6 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 DKFZp547E1912 kelch repeat and BTB (POZ) domain containing 6 BTB domain containing 861 2003-12-16 2016-02-12 2018-06-04 89890 ENSG00000165572 OTTHUMG00000016786 uc001uxu.2 AK056633 NM_152903 CCDS9376 Q86V97 25684205 MGI:3643058 RGD:1305086 617738 HGNC:25340 "ENST00000379485.2|NM_152903.5" +HGNC:25266 KBTBD7 kelch repeat and BTB domain containing 7 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 DKFZP434E2318 kelch repeat and BTB (POZ) domain containing 7 BTB domain containing 861 2003-12-16 2016-02-12 2016-10-05 84078 ENSG00000120696 OTTHUMG00000016789 uc001uxw.2 AL136782 NM_032138 CCDS9377 Q8WVZ9 11230166 MGI:2685141 RGD:6501695 617739 HGNC:25266 "ENST00000379483.4|NM_032138.7" +HGNC:30691 KBTBD8 kelch repeat and BTB domain containing 8 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "TA-KRP|KIAA1842" T-cell activation kelch repeat protein kelch repeat and BTB (POZ) domain containing 8 BTB domain containing 861 2005-08-22 2016-02-12 2016-10-05 84541 ENSG00000163376 OTTHUMG00000158779 uc003dmy.4 AF385438 NM_032505 CCDS2906 Q8NFY9 11347906 MGI:2661430 RGD:1563166 616607 HGNC:30691 "ENST00000417314.2|NM_032505.3" HGNC:30691 +HGNC:29104 KBTBD11 kelch repeat and BTB domain containing 11 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 "KIAA0711|KLHDC7C" kelch repeat and BTB (POZ) domain containing 11 BTB domain containing 861 2005-10-06 2016-02-12 2016-02-12 9920 ENSG00000176595 OTTHUMG00000163629 uc003wpw.5 AB018254 NM_014867 CCDS34795 O94819 MGI:1922151 RGD:1563576 618794 HGNC:29104 "ENST00000320248.4|NM_014867.3" +HGNC:55530 KBTBD11-AS1 KBTBD11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p23.3 08p23.3 Antisense RNAs 1987 2021-03-22 2021-03-22 101928058 ENSG00000253764 NR_136274 +HGNC:49147 KBTBD11-OT1 KBTBD11 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 8p23.3 08p23.3 KBTBD11 overlapping transcript 1 (non-protein coding) Overlapping transcripts 1988 2013-09-19 2014-06-02 2014-06-02 104266957 ENSG00000253696 OTTHUMG00000163627 BX104191 NR_126346 KBTBD11-OT1 HGNC:49147 +HGNC:25731 KBTBD12 kelch repeat and BTB domain containing 12 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 FLJ46299 KLHDC6 "kelch domain containing 6|kelch repeat and BTB (POZ) domain containing 12" BTB domain containing 861 2005-04-07 2009-10-01 2016-02-12 2016-02-12 166348 ENSG00000187715 OTTHUMG00000150508 uc062nne.1 NM_207335 CCDS33848 Q3ZCT8 MGI:1918481 RGD:1585999 HGNC:25731 "ENST00000405109.5|NM_207335.4" +HGNC:37227 KBTBD13 kelch repeat and BTB domain containing 13 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "hCG_1645727|NEM6" nemaline myopathy type 6 kelch repeat and BTB (POZ) domain containing 13 BTB domain containing 861 2010-01-25 2016-02-12 2021-04-13 390594 ENSG00000234438 OTTHUMG00000172424 uc010uis.3 NM_001101362 CCDS45281 C9JR72 "21109227|22542517" MGI:1921742 RGD:1311093 LRG_682|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_682.xml 613727 258542 HGNC:37227 "ENST00000432196.5|NM_001101362.3" HGNC:37227 +HGNC:20589 KCMF1 potassium channel modulatory factor 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "DEBT91|PCMF|DKFZP434L1021|ZZZ1" Zinc fingers ZZ-type 91 2003-08-06 2020-03-12 56888 ENSG00000176407 OTTHUMG00000153004 uc002sox.5 AF155652 NM_020122 CCDS46350 Q9P0J7 25582440 MGI:1921537 RGD:1591490 614719 HGNC:20589 "ENST00000409785.9|NM_020122.5" +HGNC:6218 KCNA1 potassium voltage-gated channel subfamily A member 1 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "Kv1.1|RBK1|HUK1|MBK1" AEMK potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2021-05-26 3736 ENSG00000111262 OTTHUMG00000044398 uc001qnh.4 L02750 NM_000217 CCDS8535 Q09470 "1349297|8821794|16382104" MGI:96654 RGD:2949 LRG_1297|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1297.xml 176260 122756 objectId:538 HGNC:6218 "ENST00000382545.5|NM_000217.3" HGNC:6218 +HGNC:6220 KCNA2 potassium voltage-gated channel subfamily A member 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "Kv1.2|HK4" potassium voltage-gated channel, shaker-related subfamily, member 2 Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2021-05-26 3737 ENSG00000177301 OTTHUMG00000011567 uc057jgb.2 L02752 NM_004974 "CCDS827|CCDS55625" P16389 16382104 MGI:96659 RGD:2950 176262 446524 objectId:539 HGNC:6220 "ENST00000316361.10|NM_004974.4" HGNC:6220 +HGNC:6221 KCNA3 potassium voltage-gated channel subfamily A member 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "Kv1.3|MK3|HLK3|HPCN3" "potassium voltage-gated channel, shaker-related subfamily, member 3|potassium channel" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2016-02-04 3738 ENSG00000177272 OTTHUMG00000034493 uc001dzv.3 L23499 NM_002232 CCDS828 P22001 "2251283|16382104" MGI:96660 RGD:2951 176263 objectId:540 HGNC:6221 "ENST00000369769.4|NM_002232.5" +HGNC:6222 KCNA4 potassium voltage-gated channel subfamily A member 4 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "Kv1.4|HK1|HPCN2|PCN2" KCNA4L "potassium voltage-gated channel, shaker-related subfamily, member 4-like|potassium voltage-gated channel, shaker-related subfamily, member 4" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2021-05-26 3739 ENSG00000182255 OTTHUMG00000166144 uc001msk.4 M55514 NM_002233 CCDS41629 P22459 "2263489|16382104" MGI:96661 RGD:2952 176266 objectId:541 HGNC:6222 "ENST00000328224.7|NM_002233.4" HGNC:6222 +HGNC:6224 KCNA5 potassium voltage-gated channel subfamily A member 5 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "Kv1.5|HK2|HPCN1" potassium voltage-gated channel, shaker-related subfamily, member 5 Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2021-05-26 3741 ENSG00000130037 OTTHUMG00000168232 uc001qni.5 M83254 NM_002234 CCDS8536 P22460 16382104 MGI:96662 RGD:2953 176267 168086 objectId:542 HGNC:6224 "ENST00000252321.5|NM_002234.4" HGNC:6224 +HGNC:6225 KCNA6 potassium voltage-gated channel subfamily A member 6 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "Kv1.6|HBK2|PPP1R96" protein phosphatase 1, regulatory subunit 96 potassium voltage-gated channel, shaker-related subfamily, member 6 "Potassium voltage-gated channels|Protein phosphatase 1 regulatory subunits" "274|694" 1991-08-13 2016-02-04 2018-02-02 3742 ENSG00000151079 OTTHUMG00000168225 uc058kap.1 X17622 NM_002235 CCDS8534 P17658 16382104 MGI:96663 RGD:62083 176257 objectId:543 HGNC:6225 +HGNC:6226 KCNA7 potassium voltage-gated channel subfamily A member 7 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "Kv1.7|HAK6" potassium voltage-gated channel, shaker-related subfamily, member 7 Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2016-10-11 3743 ENSG00000104848 OTTHUMG00000183343 uc002pmg.3 AF315818 NM_031886 CCDS12755 Q96RP8 16382104 MGI:96664 RGD:1309632 176268 objectId:544 HGNC:6226 "ENST00000221444.2|NM_031886.3" +HGNC:6219 KCNA10 potassium voltage-gated channel subfamily A member 10 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 Kv1.8 potassium voltage-gated channel, shaker-related subfamily, member 10 Potassium voltage-gated channels 274 1997-02-19 2016-02-04 2016-10-05 3744 ENSG00000143105 OTTHUMG00000022785 uc001dzt.2 U96110 NM_005549 CCDS826 Q16322 16382104 MGI:3037820 RGD:1304667 602420 objectId:545 HGNC:6219 "ENST00000369771.4|NM_005549.2" +HGNC:6228 KCNAB1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "AKR6A3|KCNA1B|hKvBeta3|Kvb1.3|hKvb3" K+ channel Beta1a chain "potassium voltage-gated channel, shaker-related subfamily, beta member 1|potassium voltage-gated channel subfamily A member regulatory beta subunit 1" "Aldo-keto reductases|Potassium voltage-gated channel regulatory subunits" "399|858" 1998-10-13 2021-04-21 2021-05-26 7881 ENSG00000169282 OTTHUMG00000158552 uc011bon.2 U33428 NM_003471 "CCDS77845|CCDS3175|CCDS77844|CCDS33882|CCDS3174" Q14722 "8838324|7499366" MGI:109155 RGD:61827 601141 HGNC:6228 "ENST00000490337.6|NM_172160.3" +HGNC:40316 KCNAB1-AS1 KCNAB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 KCNAB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874084 ENSG00000242370 OTTHUMG00000158616 uc031scd.1 NR_046618 KCNAB1-AS1 HGNC:40316 +HGNC:40315 KCNAB1-AS2 KCNAB1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 KCNAB1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874083 ENSG00000240596 OTTHUMG00000158548 uc031scc.1 NR_046617 KCNAB1-AS2 HGNC:40315 +HGNC:6229 KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "AKR6A5|KCNA2B|HKvbeta2.1|HKvbeta2.2" "potassium voltage-gated channel, shaker-related subfamily, beta member 2|potassium channel, voltage gated subfamily A regulatory beta subunit 2" "Aldo-keto reductases|Potassium voltage-gated channel regulatory subunits" "399|858" 1998-10-13 2016-02-04 2016-10-05 8514 ENSG00000069424 OTTHUMG00000000795 uc009vlv.3 U33429 NM_172130 "CCDS55571|CCDS55570|CCDS55|CCDS56" Q13303 8838324 MGI:109239 RGD:61828 601142 311145 HGNC:6229 "ENST00000378083.8|NM_001199862.2" +HGNC:6230 KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "AKR6A9|KCNA3B" "potassium voltage-gated channel, shaker-related subfamily, beta member 3|potassium channel, voltage gated subfamily A regulatory beta subunit 3" "Aldo-keto reductases|Potassium voltage-gated channel regulatory subunits" "399|858" 1999-03-02 2016-02-04 2016-02-04 9196 ENSG00000170049 OTTHUMG00000108170 uc002gjm.2 AF016411 NM_004732 CCDS11124 O43448 9857044 MGI:1336208 RGD:61830 604111 HGNC:6230 "ENST00000303790.3|NM_004732.4" +HGNC:6231 KCNB1 potassium voltage-gated channel subfamily B member 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 Kv2.1 potassium voltage-gated channel, Shab-related subfamily, member 1 Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2021-05-26 3745 ENSG00000158445 OTTHUMG00000033051 uc002xur.3 AF026005 NM_004975 CCDS13418 Q14721 "7774931|16382104" MGI:96666 RGD:2954 600397 413979 objectId:546 HGNC:6231 "ENST00000371741.6|NM_004975.4" HGNC:6231 +HGNC:6232 KCNB2 potassium voltage-gated channel subfamily B member 2 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 Kv2.2 potassium voltage-gated channel, Shab-related subfamily, member 2 Potassium voltage-gated channels 274 1999-06-09 2016-02-04 2016-10-05 9312 ENSG00000182674 OTTHUMG00000164498 uc003xzb.3 U69962 NM_004770 CCDS6209 Q92953 "9612272|16382104" MGI:99632 RGD:621349 607738 objectId:547 HGNC:6232 "ENST00000523207.2|NM_004770.3" +HGNC:6233 KCNC1 potassium voltage-gated channel subfamily C member 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 Kv3.1 "potassium voltage-gated channel, Shaw-related subfamily, member 1|potassium channel, voltage gated Shaw related subfamily C, member 1" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2021-05-26 3746 ENSG00000129159 OTTHUMG00000166359 uc009yhc.2 M96747 NM_004976 "CCDS7827|CCDS44547" P48547 "8449507|16382104" MGI:96667 RGD:2955 176258 444112 objectId:548 HGNC:6233 "ENST00000265969.8|NM_001112741.2" HGNC:6233 +HGNC:6234 KCNC2 potassium voltage-gated channel subfamily C member 2 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 Kv3.2 "potassium voltage-gated channel, Shaw-related subfamily, member 2|potassium channel, voltage gated Shaw related subfamily C, member 2" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2016-10-11 3747 ENSG00000166006 OTTHUMG00000169717 uc001sxg.3 AF268896 NM_153748 "CCDS9007|CCDS9006|CCDS58257|CCDS58256|CCDS58255|CCDS9005" Q96PR1 "8111118|16382104" MGI:96668 RGD:628829 176256 objectId:549 HGNC:6234 "ENST00000549446.6|NM_139137.4" +HGNC:6235 KCNC3 potassium voltage-gated channel subfamily C member 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Kv3.3 SCA13 "spinocerebellar ataxia 13|potassium voltage-gated channel, Shaw-related subfamily, member 3|potassium channel, voltage gated Shaw related subfamily C, member 3" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2021-05-26 3748 ENSG00000131398 OTTHUMG00000044580 uc002pru.1 AB208930 NM_004977 CCDS12793 Q14003 "1740329|8111118|16382104" MGI:96669 RGD:621358 LRG_668|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_668.xml 176264 159737 objectId:550 HGNC:6235 "ENST00000477616.2|NM_004977.3" HGNC:6235 +HGNC:6236 KCNC4 potassium voltage-gated channel subfamily C member 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "Kv3.4|HKSHIIIC" C1orf30 "chromosome 1 open reading frame 30|potassium voltage-gated channel, Shaw-related subfamily, member 4|potassium channel, voltage gated Shaw related subfamily C, member 4" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2016-10-05 3749 ENSG00000116396 OTTHUMG00000011037 uc001dzh.4 BC101769 NM_001039574 "CCDS44193|CCDS821" Q03721 "1920536|1740329|16382104" MGI:96670 RGD:1589169 176265 objectId:551 HGNC:6236 "ENST00000438661.3|NM_001039574.3" +HGNC:39958 KCNC4-DT KCNC4 divergent transcript non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 "KCNC4-AS1|LINC02586" "KCNC4 antisense RNA 1 (non-protein coding)|KCNC4 antisense RNA 1|KCNC4 antisense RNA 1 (head to head)|long intergenic non-protein coding RNA 2586" Divergent transcripts 1990 2011-04-18 2021-09-01 2021-09-01 2021-09-01 100873974 ENSG00000224965 OTTHUMG00000040850 uc031ule.2 NR_046546 KCNC4-AS1 HGNC:39958 +HGNC:6237 KCND1 potassium voltage-gated channel subfamily D member 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 Kv4.1 "potassium voltage-gated channel, Shal-related subfamily, member 1|potassium channel, voltage gated Shal related subfamily D, member 1" Potassium voltage-gated channels 274 1991-08-13 2016-02-04 2020-04-02 3750 ENSG00000102057 OTTHUMG00000024127 uc004dlx.2 AF166003 NM_004979 CCDS14314 Q9NSA2 "10729221|16382104" MGI:96671 RGD:621364 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KCND1 300281 objectId:552 HGNC:6237 "ENST00000218176.4|NM_004979.6" +HGNC:6238 KCND2 potassium voltage-gated channel subfamily D member 2 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 "Kv4.2|RK5|KIAA1044" potassium voltage-gated channel, Shal-related subfamily, member 2 Potassium voltage-gated channels 274 1992-10-05 2016-02-04 2016-10-05 3751 ENSG00000184408 OTTHUMG00000156989 uc003vjj.2 AJ010969 NM_012281 CCDS5776 Q9NZV8 "10551270|16382104" MGI:102663 RGD:68393 605410 objectId:553 HGNC:6238 "ENST00000331113.9|NM_012281.3" +HGNC:6239 KCND3 potassium voltage-gated channel subfamily D member 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "Kv4.3|KSHIVB" "SCA22|SCA19" "spinocerebellar ataxia 22|spinocerebellar ataxia 19|potassium voltage-gated channel, Shal-related subfamily, member 3" Potassium voltage-gated channels 274 1992-10-05 2016-02-04 2021-05-26 3752 ENSG00000171385 OTTHUMG00000011989 uc001ebv.2 AF048713 NM_172198 "CCDS843|CCDS844" Q9UK17 "10942109|16382104|23280837" MGI:1928743 RGD:68394 LRG_445|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_445.xml 605411 302951 objectId:554 HGNC:6239 "ENST00000302127.5|NM_001378969.1" HGNC:6239 +HGNC:40317 KCND3-AS1 KCND3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 KCND3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100873995 ENSG00000237556 OTTHUMG00000011993 uc057jjx.1 NR_046619 KCND3-AS1 HGNC:40317 +HGNC:41350 KCND3-IT1 KCND3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 KCND3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874295 ENSG00000232558 OTTHUMG00000011990 uc031ulu.1 NR_046783 KCND3-IT1 HGNC:41350 +HGNC:6240 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 "minK|IsK|JLNS2|LQT5" "Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5" "potassium voltage-gated channel, Isk-related family, member 1|potassium channel, voltage gated subfamily E regulatory beta subunit 1" Potassium voltage-gated channel regulatory subunits 858 1991-08-13 2016-02-04 2021-05-26 3753 ENSG00000180509 OTTHUMG00000086236 uc010gmr.4 L28168 NM_000219 CCDS13636 P15382 8432548 MGI:96673 RGD:2956 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|KCNE1 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=KCNE1|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=KCNE1|LRG_290|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_290.xml" 176261 122763 HGNC:6240 "ENST00000399286.3|NM_000219.6" HGNC:6240 +HGNC:6242 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "MiRP1|LQT6" "potassium voltage-gated channel, Isk-related family, member 2|potassium channel, voltage gated subfamily E regulatory beta subunit 2" Potassium voltage-gated channel regulatory subunits 858 1999-05-11 2016-02-04 2021-05-26 9992 ENSG00000159197 OTTHUMG00000086189 uc002ytt.2 AF071002 NM_172201 CCDS13635 Q9Y6J6 10219239 MGI:1891123 RGD:621383 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|KCNE2 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=KCNE2|LRG_291|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_291.xml" 603796 122770 HGNC:6242 "ENST00000290310.4|NM_172201.2" HGNC:6242 +HGNC:6243 KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "MiRP2|HOKPP" "potassium voltage-gated channel, Isk-related family, member 3|potassium channel, voltage gated subfamily E regulatory beta subunit 3" Potassium voltage-gated channel regulatory subunits 858 1999-05-11 2016-02-04 2021-04-13 10008 ENSG00000175538 OTTHUMG00000165641 uc001ovc.4 AF076531 NM_005472 CCDS8232 Q9Y6H6 10219239 MGI:1891124 RGD:621384 LRG_439|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_439.xml 604433 122773 HGNC:6243 "ENST00000310128.9|NM_005472.5" HGNC:6243 +HGNC:6244 KCNE4 potassium voltage-gated channel subfamily E regulatory subunit 4 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 MiRP3 "potassium voltage-gated channel, Isk-related family, member 4|potassium channel, voltage gated subfamily E regulatory beta subunit 4" Potassium voltage-gated channel regulatory subunits 858 1999-05-11 2016-02-04 2016-04-25 23704 ENSG00000152049 OTTHUMG00000133161 uc002vnl.7 AY065987 NM_080671 CCDS2456 Q8WWG9 "10219239|12670483" MGI:1891125 RGD:1302957 607775 HGNC:6244 "ENST00000281830.4|NM_080671.4" +HGNC:6241 KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 protein-coding gene gene with protein product Approved Xq23 Xq23 KCNE1L "potassium voltage-gated channel, Isk-related family, member 1-like|potassium channel, voltage gated subfamily E regulatory beta subunit 5" Potassium voltage-gated channel regulatory subunits 858 1999-11-16 2015-01-16 2016-02-04 2021-04-13 23630 ENSG00000176076 OTTHUMG00000022189 AJ012743 NM_012282 CCDS14547 Q9UJ90 "10493825|12324418" MGI:1913490 RGD:1583501 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KCNE1L|LRG_1083|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1083.xml" 300328 122768 HGNC:6241 "ENST00000372101.3|NM_012282.4" HGNC:6241 +HGNC:6246 KCNF1 potassium voltage-gated channel modifier subfamily F member 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "Kv5.1|kH1|IK8" KCNF "potassium voltage-gated channel, subfamily F, member 1|potassium channel, voltage gated subfamily F, member 1" Potassium voltage-gated channels 274 1993-03-22 2016-02-04 2016-10-05 3754 ENSG00000162975 OTTHUMG00000119054 uc002rax.3 AF033382 NM_002236 CCDS1676 Q9H3M0 "9434767|16382104" MGI:2687399 RGD:631414 603787 objectId:555 HGNC:6246 "ENST00000295082.3|NM_002236.5" +HGNC:6248 KCNG1 potassium voltage-gated channel modifier subfamily G member 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "Kv6.1|kH2|K13" KCNG potassium voltage-gated channel, subfamily G, member 1 Potassium voltage-gated channels 274 1993-03-22 2016-02-04 2016-10-05 3755 ENSG00000026559 OTTHUMG00000032745 uc002xwa.5 AF033383 NM_002237 CCDS13436 Q9UIX4 "9434767|16382104" MGI:3616086 RGD:631416 603788 objectId:556 HGNC:6248 "ENST00000371571.5|NM_002237.4" +HGNC:6249 KCNG2 potassium voltage-gated channel modifier subfamily G member 2 protein-coding gene gene with protein product Approved 18q23 18q23 "Kv6.2|KCNF2" potassium voltage-gated channel, subfamily G, member 2 Potassium voltage-gated channels 274 1999-12-21 2016-02-04 2016-02-04 26251 ENSG00000178342 OTTHUMG00000044541 uc010xfl.2 AJ011021 NM_012283 CCDS12019 Q9UJ96 "10551266|16382104" MGI:3694646 RGD:1309521 605696 objectId:557 HGNC:6249 "ENST00000316249.4|NM_012283.2" +HGNC:18306 KCNG3 potassium voltage-gated channel modifier subfamily G member 3 protein-coding gene gene with protein product Approved 2p21 02p21 Kv6.3 potassium voltage-gated channel, subfamily G, member 3 Potassium voltage-gated channels 274 2002-04-10 2016-02-04 2016-02-04 170850 ENSG00000171126 OTTHUMG00000128604 uc002rsn.3 AB070604 NM_172344 "CCDS1809|CCDS42674" Q8TAE7 "11852086|16382104" MGI:2663923 RGD:628832 606767 objectId:558 HGNC:18306 "ENST00000306078.2|NM_133329.6" +HGNC:19697 KCNG4 potassium voltage-gated channel modifier subfamily G member 4 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 Kv6.4 potassium voltage-gated channel, subfamily G, member 4 Potassium voltage-gated channels 274 2002-11-20 2016-02-04 2016-02-04 93107 ENSG00000168418 OTTHUMG00000137638 uc010voc.3 AF348984 NM_172347 CCDS10945 Q8TDN1 "12060745|16382104" MGI:1913983 RGD:1308553 607603 objectId:559 HGNC:19697 "ENST00000308251.6|NM_172347.3" +HGNC:6250 KCNH1 potassium voltage-gated channel subfamily H member 1 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "Kv10.1|eag|h-eag|eag1|hEAG" ether-a-go-go 1 potassium voltage-gated channel, subfamily H (eag-related), member 1 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 1993-03-22 2016-02-04 2019-11-27 3756 ENSG00000143473 OTTHUMG00000036309 uc001hib.3 AJ001366 NM_002238 "CCDS1496|CCDS31015" O95259 "9738473|16382104" MGI:1341721 RGD:68398 603305 431495 objectId:570 HGNC:6250 "ENST00000271751.10|NM_172362.3" HGNC:6250 +HGNC:41351 KCNH1-IT1 KCNH1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 KCNH1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-23 2015-02-25 2015-02-25 100874296 ENSG00000234233 OTTHUMG00000046162 uc057pdd.1 NR_046784 KCNH1-IT1 HGNC:41351 +HGNC:6251 KCNH2 potassium voltage-gated channel subfamily H member 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "Kv11.1|HERG|erg1" "human ether-a-go-go-related gene|long QT syndrome type 2" LQT2 potassium voltage-gated channel, subfamily H (eag-related), member 2 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 1993-03-22 2016-02-04 2021-04-13 3757 ENSG00000055118 OTTHUMG00000158341 uc003wic.4 U04270 NM_000238 "CCDS5910|CCDS5911" Q12809 "18616963|7842012|8159766|16382104" MGI:1341722 RGD:621414 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|KCNH2 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=KCNH2|LRG_288|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_288.xml" 152427 122777 objectId:572 HGNC:6251 "ENST00000262186.10|NM_000238.4" HGNC:6251 +HGNC:6252 KCNH3 potassium voltage-gated channel subfamily H member 3 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "Kv12.2|BEC1|elk2" potassium voltage-gated channel, subfamily H (eag-related), member 3 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 1999-12-14 2016-02-04 2016-10-11 23416 ENSG00000135519 OTTHUMG00000169517 uc001ruh.2 AB022696 NM_012284 CCDS8786 Q9ULD8 "10455180|16382104" MGI:1341723 RGD:71070 604527 objectId:576 HGNC:6252 "ENST00000257981.7|NM_012284.3" +HGNC:6253 KCNH4 potassium voltage-gated channel subfamily H member 4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "Kv12.3|elk1" potassium voltage-gated channel, subfamily H (eag-related), member 4 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 1999-12-14 2016-02-04 2016-10-11 23415 ENSG00000089558 OTTHUMG00000180106 uc002hzb.3 AB022698 NM_012285 CCDS11420 Q9UQ05 "10455180|16382104" MGI:2156184 RGD:621415 604528 objectId:577 HGNC:6253 "ENST00000264661.4|NM_012285.3" +HGNC:6254 KCNH5 potassium voltage-gated channel subfamily H member 5 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "Kv10.2|H-EAG2|eag2|hEAG2" ether-a-go-go 2 potassium voltage-gated channel, subfamily H (eag-related), member 5 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 2000-02-02 2016-02-04 2019-11-27 27133 ENSG00000140015 OTTHUMG00000029041 uc001xfx.5 U69185 NM_139318 "CCDS9756|CCDS45122" Q8NCM2 "9738473|16382104" MGI:3584508 RGD:621417 605716 470532 objectId:571 HGNC:6254 "ENST00000322893.12|NM_139318.5" +HGNC:18862 KCNH6 potassium voltage-gated channel subfamily H member 6 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "Kv11.2|erg2|HERG2" potassium voltage-gated channel, subfamily H (eag-related), member 6 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 2002-07-10 2016-02-04 2019-08-20 81033 ENSG00000173826 OTTHUMG00000178901 uc002jay.5 AF311913 NM_030779 "CCDS62290|CCDS11639|CCDS11638" Q9H252 16382104 MGI:2684139 RGD:620304 608168 470534 objectId:573 HGNC:18862 "ENST00000314672.10|NM_001278919.2" +HGNC:18863 KCNH7 potassium voltage-gated channel subfamily H member 7 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "Kv11.3|HERG3|erg3" potassium voltage-gated channel, subfamily H (eag-related), member 7 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 2002-07-10 2016-02-04 2016-10-05 90134 ENSG00000184611 OTTHUMG00000132069 uc002uch.3 AF032897 NM_033272 "CCDS2220|CCDS2219" Q9NS40 16382104 MGI:2159566 RGD:621112 608169 objectId:574 HGNC:18863 "ENST00000332142.10|NM_033272.4" +HGNC:40858 KCNH7-AS1 KCNH7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Antisense RNAs 1987 2019-08-15 2019-08-15 101929570 ENSG00000237750 OTTHUMG00000153947 NR_110258 HGNC:40858 +HGNC:18864 KCNH8 potassium voltage-gated channel subfamily H member 8 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 "Kv12.1|elk3" potassium voltage-gated channel, subfamily H (eag-related), member 8 "Potassium voltage-gated channels|PAS domain containing" "274|2127" 2002-07-10 2016-02-04 2016-02-04 131096 ENSG00000183960 OTTHUMG00000129891 uc003cbk.2 AY053503 NM_144633 CCDS2632 Q96L42 16382104 MGI:2445160 RGD:2549 608260 objectId:575 HGNC:18864 "ENST00000328405.7|NM_144633.3" +HGNC:15521 KCNIP1 potassium voltage-gated channel interacting protein 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 KCHIP1 Kv channel interacting protein 1 "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing" "858|863" 2001-05-23 2016-02-04 2016-10-05 30820 ENSG00000182132 OTTHUMG00000130442 uc003map.5 AF199597 NM_001278339 "CCDS34286|CCDS64312|CCDS4374|CCDS34285|CCDS64313" Q9NZI2 10676964 MGI:1917607 RGD:70886 604660 HGNC:15521 "ENST00000328939.9|NM_014592.4" +HGNC:40710 KCNIP1-AS1 KCNIP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.1 05q35.1 Antisense RNAs 1987 2019-08-15 2019-08-15 105377716 ENSG00000253591 OTTHUMG00000163148 NR_136214 HGNC:40710 +HGNC:40320 KCNIP1-OT1 KCNIP1 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 5q35.1 05q35.1 Overlapping transcripts 1988 2019-08-15 2019-08-15 101928033 ENSG00000253647 OTTHUMG00000163147 NR_109899 HGNC:40320 +HGNC:15522 KCNIP2 potassium voltage-gated channel interacting protein 2 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 KCHIP2 Kv channel-interacting protein 2 "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing" "858|863" 2001-05-23 2016-02-04 2016-02-04 30819 ENSG00000120049 OTTHUMG00000018937 uc001kuf.4 NM_014591 "CCDS7521|CCDS7522|CCDS7523|CCDS7524|CCDS7525|CCDS7526|CCDS41562" Q9NS61 10676964 MGI:2135916 RGD:70887 604661 HGNC:15522 "ENST00000356640.7|NM_173191.3" +HGNC:48680 KCNIP2-AS1 KCNIP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.32 10q24.32 Antisense RNAs 1987 2013-06-06 2013-06-06 100289509 ENSG00000226009 OTTHUMG00000018936 NR_045118 KCNIP2-AS1 HGNC:48680 +HGNC:15523 KCNIP3 potassium voltage-gated channel interacting protein 3 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 "DREAM|KCHIP3" "calsenilin|DRE-antagonist modulator" CSEN "calsenilin, presenilin-binding protein, EF hand transcription factor|Kv channel interacting protein 3, calsenilin" "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing" "858|863" 2001-05-24 2006-02-11 2016-02-04 2020-03-12 30818 ENSG00000115041 OTTHUMG00000130392 uc002sup.4 AF199599 NM_013434 "CCDS33245|CCDS2013" Q9Y2W7 "9771752|10078534" MGI:1929258 RGD:70888 604662 470536 HGNC:15523 "ENST00000295225.10|NM_013434.5" +HGNC:30083 KCNIP4 potassium voltage-gated channel interacting protein 4 protein-coding gene gene with protein product Approved 4p15.31-p15.2 04p15.31-p15.2 "CALP|KCHIP4|MGC44947" Kv channel interacting protein 4 "Potassium voltage-gated channel regulatory subunits|EF-hand domain containing|MicroRNA protein coding host genes" "858|863|1691" 2003-12-17 2016-02-04 2018-02-13 80333 ENSG00000185774 OTTHUMG00000128557 uc003gqf.2 AF453244 NM_025221 "CCDS43216|CCDS3428|CCDS43217|CCDS43215|CCDS47035|CCDS87210" Q6PIL6 "11805342|11847232" MGI:1933131 RGD:708539 608182 HGNC:30083 "ENST00000382152.7|NM_025221.6" +HGNC:29895 KCNIP4-IT1 KCNIP4 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 4p15.2 04p15.2 UM9-5 non coding transcript UM9(5) NCRNA00099 "non-protein coding RNA 99|KCNIP4 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2008-09-04 2011-08-11 2015-02-25 2016-10-11 359822 ENSG00000280650 OTTHUMG00000189553 uc003gqj.1 BK000166 NR_002813 12515386 um9-5 KCNIP4-IT1 HGNC:29895 +HGNC:6255 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "Kir1.1|ROMK1" ATP-sensitive inward rectifier potassium channel 1 potassium inwardly-rectifying channel, subfamily J, member 1 Potassium inwardly rectifying channel subfamily J 276 1993-08-03 2019-07-19 2019-07-19 3758 ENSG00000151704 OTTHUMG00000048247 uc001qes.3 BC063109 NM_000220 "CCDS8476|CCDS8477" P48048 "7680431|8190102|16382105" MGI:1927248 RGD:2957 600359 122783 objectId:429 HGNC:6255 "ENST00000392666.6|NM_153766.3" HGNC:6255 +HGNC:6263 KCNJ2 potassium inwardly rectifying channel subfamily J member 2 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 "Kir2.1|IRK1|LQT7" potassium inwardly-rectifying channel, subfamily J, member 2 Potassium inwardly rectifying channel subfamily J 276 1994-02-08 2019-07-19 2021-04-13 3759 ENSG00000123700 OTTHUMG00000180351 uc002jir.4 AF011904 NM_000891 CCDS11688 P63252 "7696590|11240146|16382105" MGI:104744 RGD:61968 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|KCNJ2 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=KCNJ2|LRG_328|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_328.xml" 600681 122791 objectId:430 HGNC:6263 "ENST00000243457.4|NM_000891.3" HGNC:6263 +HGNC:43720 KCNJ2-AS1 KCNJ2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 FLJ36644 "KCNJ2 antisense RNA 1 (non-protein coding)|KCNJ2 antisense RNA 1|KCNJ2 antisense RNA 1 (head to head)" Antisense RNAs 1987 2012-02-03 2018-03-23 2018-03-23 400617 ENSG00000267365 OTTHUMG00000180350 uc021uci.1 AK093963 NR_036534 KCNJ2-AS1 HGNC:43720 +HGNC:6264 KCNJ3 potassium inwardly rectifying channel subfamily J member 3 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "Kir3.1|GIRK1|KGA" G protein-activated inward rectifier potassium channel 1 potassium inwardly-rectifying channel, subfamily J, member 3 Potassium inwardly rectifying channel subfamily J 276 1994-02-08 2019-07-19 2020-02-19 3760 ENSG00000162989 OTTHUMG00000131937 uc002tyv.3 U50964 NM_002239 "CCDS58733|CCDS2200" P48549 "8088798|16382105" MGI:104742 RGD:2958 601534 objectId:434 HGNC:6264 "ENST00000295101.3|NM_002239.4" +HGNC:6265 KCNJ4 potassium inwardly rectifying channel subfamily J member 4 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "Kir2.3|HIR|HRK1|hIRK2|IRK3" potassium inwardly-rectifying channel, subfamily J, member 4 Potassium inwardly rectifying channel subfamily J 276 1995-04-13 2019-07-19 2019-07-19 3761 ENSG00000168135 OTTHUMG00000151131 uc003avt.3 U07364 NM_004981 CCDS13971 P48050 "8016146|16382105" MGI:104743 RGD:621436 600504 objectId:432 HGNC:6265 "ENST00000303592.3|NM_152868.3" +HGNC:6266 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "Kir3.4|CIR|KATP1|GIRK4|LQT13" G protein-activated inward rectifier potassium channel 4 potassium inwardly-rectifying channel, subfamily J, member 5 Potassium inwardly rectifying channel subfamily J 276 1995-04-13 2019-07-19 2021-04-13 3762 ENSG00000120457 OTTHUMG00000165795 uc001qet.4 D50134 NM_000890 CCDS8479 P48544 16382105 MGI:104755 RGD:61971 LRG_333|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_333.xml KCNJ5 600734 235181 objectId:437 HGNC:6266 "ENST00000529694.6|NM_000890.5" HGNC:6266 +HGNC:28584 KCNJ5-AS1 KCNJ5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 "MGC35558|FLJ43646" C11orf45 chromosome 11 open reading frame 45 Antisense RNAs 1987 2005-10-28 2021-10-14 2021-10-14 2021-10-14 219833 ENSG00000174370 OTTHUMG00000165796 uc001qeu.3 AK125634 NR_045767 CCDS8478 Q8TAV5 24840790 HGNC:28584 +HGNC:6267 KCNJ6 potassium inwardly rectifying channel subfamily J member 6 protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "Kir3.2|GIRK2|KATP2|BIR1|hiGIRK2" G protein-activated inward rectifier potassium channel 2 KCNJ7 potassium inwardly-rectifying channel, subfamily J, member 6 Potassium inwardly rectifying channel subfamily J 276 1995-04-13 2019-07-19 2020-02-19 3763 ENSG00000157542 OTTHUMG00000086667 uc002ywn.2 U24660 NM_002240 CCDS42927 P48051 "7796919|16382105" MGI:104781 RGD:2959 600877 444179 objectId:435 HGNC:6267 "ENST00000609713.2|NM_002240.5" HGNC:6267 +HGNC:41352 KCNJ6-AS1 KCNJ6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 KCNJ6-IT1 KCNJ6 intronic transcript 1 (non-protein coding) Antisense RNAs 1987 2011-05-23 2014-02-10 2014-02-10 2014-11-19 105372799 ENSG00000233213 OTTHUMG00000086669 XR_937707 KCNJ6-AS1 HGNC:41352 +HGNC:6269 KCNJ8 potassium inwardly rectifying channel subfamily J member 8 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 Kir6.1 potassium inwardly-rectifying channel, subfamily J, member 8 Potassium inwardly rectifying channel subfamily J 276 1995-07-18 2019-07-19 2019-07-19 3764 ENSG00000121361 OTTHUMG00000169093 uc001rff.4 BC000544 NM_004982 CCDS8692 Q15842 "8595887|16382105" MGI:1100508 RGD:2960 600935 297206 objectId:441 HGNC:6269 "ENST00000240662.3|NM_004982.4" HGNC:6269 +HGNC:6270 KCNJ9 potassium inwardly rectifying channel subfamily J member 9 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "Kir3.3|GIRK3" G protein-activated inward rectifier potassium channel 3 potassium inwardly-rectifying channel, subfamily J, member 9 Potassium inwardly rectifying channel subfamily J 276 1996-07-26 2019-07-19 2020-02-19 3765 ENSG00000162728 OTTHUMG00000024072 uc001fuy.2 U52152 NM_004983 CCDS1194 Q92806 "8575783|16382105" MGI:108007 RGD:621440 600932 objectId:436 HGNC:6270 "ENST00000368088.4|NM_004983.3" +HGNC:6256 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "Kir4.1|Kir1.2" potassium inwardly-rectifying channel, subfamily J, member 10 Potassium inwardly rectifying channel subfamily J 276 1996-07-26 2019-07-19 2019-07-19 3766 ENSG00000177807 OTTHUMG00000024073 uc001fuw.3 U52155 NM_002241 CCDS1193 P78508 "9367690|8995301|16382105" MGI:1194504 RGD:61822 602208 189344 objectId:438 HGNC:6256 "ENST00000644903.1|NM_002241.5" HGNC:6256 +HGNC:6257 KCNJ11 potassium inwardly rectifying channel subfamily J member 11 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "Kir6.2|BIR" "ATP-sensitive inward rectifier potassium channel 11|beta-cell inward rectifier" potassium inwardly-rectifying channel, subfamily J, member 11 Potassium inwardly rectifying channel subfamily J 276 1997-09-12 2019-07-19 2020-02-19 3767 ENSG00000187486 OTTHUMG00000165914 uc001mna.4 D50582 NM_000525 "CCDS53606|CCDS31436" Q14654 "7502040|16382105" MGI:107501 RGD:69247 600937 122787 objectId:442 HGNC:6257 "ENST00000339994.5|NM_000525.4" HGNC:6257 +HGNC:6258 KCNJ12 potassium inwardly rectifying channel subfamily J member 12 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "Kir2.2|Kir2.2v|IRK2|hIRK1" KCNJN1 "potassium inwardly-rectifying channel, subfamily J, inhibitor 1|potassium inwardly-rectifying channel, subfamily J, member 12" Potassium inwardly rectifying channel subfamily J 276 1996-11-11 2019-07-19 2019-07-19 3768 ENSG00000184185 OTTHUMG00000132039 uc002gyv.2 L36069 NM_021012 CCDS11219 Q14500 "7859381|12417321|16382105" MGI:108495 RGD:621660 602323 objectId:431 HGNC:6258 "ENST00000583088.6|NM_021012.5" +HGNC:6259 KCNJ13 potassium inwardly rectifying channel subfamily J member 13 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "Kir7.1|Kir1.4|LCA16" potassium inwardly-rectifying channel, subfamily J, member 13 Potassium inwardly rectifying channel subfamily J 276 1998-08-10 2019-07-19 2019-07-19 3769 ENSG00000115474 OTTHUMG00000153292 uc002vtp.4 AJ006128 NM_002242 "CCDS54437|CCDS2498" O60928 "9878260|9620703|16382105" MGI:3781032 RGD:621661 603208 159740 objectId:443 HGNC:6259 "ENST00000233826.4|NM_002242.4" HGNC:6259 +HGNC:6260 KCNJ14 potassium inwardly rectifying channel subfamily J member 14 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "Kir2.4|IRK4" potassium inwardly-rectifying channel, subfamily J, member 14 Potassium inwardly rectifying channel subfamily J 276 1998-08-10 2019-07-19 2019-07-19 3770 ENSG00000182324 OTTHUMG00000183307 uc002pje.3 BC042033 NM_013348 CCDS12721 Q9UNX9 "9592090|10723734|16382105" MGI:2384820 RGD:628872 603953 objectId:433 HGNC:6260 "ENST00000342291.3|NM_013348.4" +HGNC:6261 KCNJ15 potassium inwardly rectifying channel subfamily J member 15 protein-coding gene gene with protein product Approved 21q22.13-q22.2 21q22.13-q22.2 "Kir4.2|Kir1.3|IRKK" potassium inwardly-rectifying channel, subfamily J, member 15 Potassium inwardly rectifying channel subfamily J 276 1997-06-18 2019-07-19 2019-07-19 3772 ENSG00000157551 OTTHUMG00000090609 uc002ywv.5 Y10745 NM_002243 CCDS13656 Q99712 "9299242|8995301|16382105" MGI:1310000 RGD:621662 602106 objectId:439 HGNC:6261 "ENST00000398938.7|NM_170736.3" +HGNC:6262 KCNJ16 potassium inwardly rectifying channel subfamily J member 16 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 "Kir5.1|BIR9" potassium inwardly-rectifying channel, subfamily J, member 16 Potassium inwardly rectifying channel subfamily J 276 1998-05-29 2019-07-19 2020-01-06 3773 ENSG00000153822 OTTHUMG00000180349 uc031reh.2 AF153815 NM_018658 CCDS11687 Q9NPI9 "11240146|16382105" MGI:1314842 RGD:61824 605722 objectId:440 HGNC:6262 "ENST00000392671.6|NM_170741.4" +HGNC:39080 KCNJ18 potassium inwardly rectifying channel subfamily J member 18 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "KIR2.6|TTPP2" potassium inwardly-rectifying channel, subfamily J, member 18 Potassium inwardly rectifying channel subfamily J 276 2010-10-05 2019-07-19 2019-07-19 100134444 ENSG00000260458 OTTHUMG00000175863 uc032exz.1 NM_001194958 CCDS74015 B7U540 20074522 MGI:108495 613236 310433 HGNC:39080 "ENST00000567955.3|NM_001194958.2" HGNC:39080 +HGNC:6272 KCNK1 potassium two pore domain channel subfamily K member 1 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "K2p1.1|DPK|TWIK-1" tandem of P domains in a weak inward rectifying K+ channel 1 "potassium channel, subfamily K, member 1|potassium channel, two pore domain subfamily K, member 1" "Potassium two pore domain channel subfamily K |MicroRNA protein coding host genes" "277|1691" 1997-04-16 2016-02-04 2016-02-04 3775 ENSG00000135750 OTTHUMG00000037923 uc010pxo.1 U33632 NM_002245 CCDS1599 O00180 "8661042|16382106" MGI:109322 RGD:621447 601745 objectId:513 HGNC:6272 "ENST00000366621.8|NM_002245.4" +HGNC:6277 KCNK2 potassium two pore domain channel subfamily K member 2 protein-coding gene gene with protein product Approved 1q41 01q41 "K2p2.1|TREK-1" "potassium channel, subfamily K, member 2|potassium channel, two pore domain subfamily K, member 2" Potassium two pore domain channel subfamily K 277 1998-04-03 2016-02-04 2016-02-04 3776 ENSG00000082482 OTTHUMG00000037017 uc001hkr.5 AF004711 NM_014217 "CCDS31024|CCDS41466|CCDS41467" O95069 "9721223|16382106" MGI:109366 RGD:621448 603219 objectId:514 HGNC:6277 "ENST00000444842.7|NM_001017425.3" +HGNC:6278 KCNK3 potassium two pore domain channel subfamily K member 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "K2p3.1|TASK|TASK-1|TASK1" TWIK-related acid-sensitive K+ 1 "potassium channel, subfamily K, member 3|potassium channel, two pore domain subfamily K, member 3" Potassium two pore domain channel subfamily K 277 1997-12-12 2016-02-04 2020-02-19 3777 ENSG00000171303 OTTHUMG00000125530 uc002rhn.3 AF006823 NM_002246 CCDS1727 O14649 "9312005|9721223|16382106" MGI:1100509 RGD:61997 603220 360868 objectId:515 HGNC:6278 "ENST00000302909.4|NM_002246.3" HGNC:6278 +HGNC:6279 KCNK4 potassium two pore domain channel subfamily K member 4 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "K2p4.1|TRAAK" "potassium channel, subfamily K, member 4|potassium channel, two pore domain subfamily K, member 4" Potassium two pore domain channel subfamily K 277 2000-04-13 2016-02-04 2016-10-05 50801 ENSG00000182450 OTTHUMG00000168006 uc001nzj.2 AF247042 NM_033311 CCDS8067 Q9NYG8 "10767409|16382106" MGI:1298234 RGD:621449 605720 objectId:516 HGNC:6279 "ENST00000422670.7|NM_033310.3" HGNC:6279 +HGNC:6280 KCNK5 potassium two pore domain channel subfamily K member 5 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "K2p5.1|TASK-2|TASK2" TWIK-related acid-sensitive K+ 2 "potassium channel, subfamily K, member 5|potassium channel, two pore domain subfamily K, member 5" Potassium two pore domain channel subfamily K 277 1998-11-17 2016-02-04 2020-02-19 8645 ENSG00000164626 OTTHUMG00000014642 uc003oon.4 AF084830 NM_003740 CCDS4841 O95279 "9812978|16382106" MGI:1336175 RGD:1564985 603493 objectId:517 HGNC:6280 "ENST00000359534.4|NM_003740.4" +HGNC:6281 KCNK6 potassium two pore domain channel subfamily K member 6 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "K2p6.1|TWIK-2" "potassium channel, subfamily K, member 6|potassium channel, two pore domain subfamily K, member 6" Potassium two pore domain channel subfamily K 277 1999-04-07 2016-02-04 2016-10-11 9424 ENSG00000099337 OTTHUMG00000182325 uc002oic.4 AF117708 NM_004823 CCDS12513 Q9Y257 "10075682|10393428|16382106" MGI:1891291 RGD:621450 603939 objectId:518 HGNC:6281 "ENST00000263372.5|NM_004823.3" +HGNC:6282 KCNK7 potassium two pore domain channel subfamily K member 7 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 K2p7.1 "potassium channel, subfamily K, member 7|potassium channel, two pore domain subfamily K, member 7" Potassium two pore domain channel subfamily K 277 1999-07-09 2016-02-04 2016-10-05 10089 ENSG00000173338 OTTHUMG00000166528 uc001oes.3 AF110522 NM_005714 "CCDS8106|CCDS41673|CCDS31608" Q9Y2U2 "10206991|11256078|16382106" MGI:1341841 RGD:1565025 603940 objectId:519 HGNC:6282 "ENST00000340313.5|NM_033347.2" +HGNC:6283 KCNK9 potassium two pore domain channel subfamily K member 9 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "K2p9.1|TASK3|TASK-3" TWIK-related acid-sensitive K+ 3 "potassium channel, subfamily K, member 9|potassium channel, two pore domain subfamily K, member 9" Potassium two pore domain channel subfamily K 277 2000-05-26 2016-02-04 2021-04-13 51305 ENSG00000169427 OTTHUMG00000164186 uc064qpg.1 AF212829 NM_016601 CCDS6377 Q9NPC2 "10734076|16382106" MGI:3521816 RGD:621451 LRG_1042|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1042.xml 605874 166255 objectId:520 HGNC:6283 "ENST00000520439.3|NM_001282534.2" HGNC:6283 +HGNC:6273 KCNK10 potassium two pore domain channel subfamily K member 10 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "K2p10.1|TREK-2|TREK2|PPP1R97" protein phosphatase 1, regulatory subunit 97 "potassium channel, subfamily K, member 10|potassium channel, two pore domain subfamily K, member 10" "Potassium two pore domain channel subfamily K |Protein phosphatase 1 regulatory subunits" "277|694" 2001-06-22 2016-02-04 2016-10-11 54207 ENSG00000100433 OTTHUMG00000170743 uc001xwn.4 AF279890 NM_021161 "CCDS9882|CCDS9881|CCDS9880" P57789 "10880510|16382106" MGI:1919508 RGD:619732 605873 objectId:521 HGNC:6273 "ENST00000319231.10|NM_138317.3" +HGNC:6274 KCNK12 potassium two pore domain channel subfamily K member 12 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "THIK-2|THIK2|K2p12.1" "potassium channel, subfamily K, member 12|potassium channel, two pore domain subfamily K, member 12" Potassium two pore domain channel subfamily K 277 2000-07-31 2016-02-04 2016-02-04 56660 ENSG00000184261 OTTHUMG00000129131 uc002rwb.4 AF287302 NM_022055 CCDS1835 Q9HB15 11060316 MGI:2684043 RGD:68940 607366 objectId:522 HGNC:6274 "ENST00000327876.5|NM_022055.2" +HGNC:6275 KCNK13 potassium two pore domain channel subfamily K member 13 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "K2p13.1|THIK-1|THIK1" "potassium channel, subfamily K, member 13|potassium channel, two pore domain subfamily K, member 13" Potassium two pore domain channel subfamily K 277 2000-07-31 2016-02-04 2020-01-06 56659 ENSG00000152315 OTTHUMG00000171017 uc001xye.2 AF287303 NM_022054 CCDS9889 Q9HB14 "11060316|16382106" MGI:2384976 RGD:68941 607367 objectId:523 HGNC:6275 "ENST00000282146.5|NM_022054.4" +HGNC:13814 KCNK15 potassium two pore domain channel subfamily K member 15 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "K2p15.1|dJ781B1.1|KT3.3|KIAA0237|TASK5|TASK-5" TWIK-related acid-sensitive K+ 5 "KCNK11|KCNK14" "potassium channel, subfamily K, member 15|potassium channel, two pore domain subfamily K, member 15" Potassium two pore domain channel subfamily K 277 2000-11-15 2016-02-04 2020-02-19 60598 ENSG00000124249 OTTHUMG00000032544 uc002xmr.4 AF257081 NM_022358 CCDS13337 Q9H427 "11409881|11431495|16382106" MGI:2675209 RGD:619733 607368 objectId:524 HGNC:13814 "ENST00000372861.5|NM_022358.4" +HGNC:49901 KCNK15-AS1 KCNK15 and WISP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 RP11-445H22.4 KCNK15 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-03-20 2018-03-23 2018-04-09 106144538 ENSG00000244558 OTTHUMG00000032545 BF195580 NR_132377 25430712 HGNC:49901 +HGNC:14464 KCNK16 potassium two pore domain channel subfamily K member 16 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "K2p16.1|TALK-1|TALK1" "potassium channel, subfamily K, member 16|potassium channel, two pore domain subfamily K, member 16" Potassium two pore domain channel subfamily K 277 2001-06-29 2016-02-04 2016-10-05 83795 ENSG00000095981 OTTHUMG00000014645 uc011dtz.2 AF358909 NM_032115 "CCDS47420|CCDS47422|CCDS47421|CCDS4843|CCDS87391" Q96T55 "11263999|16382106" MGI:1921821 RGD:1582911 607369 objectId:525 HGNC:14464 "ENST00000437525.3|NM_001135106.2" +HGNC:14465 KCNK17 potassium two pore domain channel subfamily K member 17 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "K2p17.1|TALK-2|TALK2|TASK4|TASK-4" TWIK-related acid-sensitive K+ 4 "potassium channel, subfamily K, member 17|potassium channel, two pore domain subfamily K, member 17" Potassium two pore domain channel subfamily K 277 2001-06-29 2016-02-04 2020-02-19 89822 ENSG00000124780 OTTHUMG00000014646 uc003ooo.4 AF358910 NM_031460 "CCDS4842|CCDS47419" Q96T54 16382106 607370 objectId:526 HGNC:14465 "ENST00000373231.9|NM_031460.4" HGNC:14465 +HGNC:19439 KCNK18 potassium two pore domain channel subfamily K member 18 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "K2p18.1|TRESK-2|TRESK2|TRESK|TRIK" TWIK related spinal cord K+ channel "potassium channel, subfamily K, member 18|potassium channel, two pore domain subfamily K, member 18" Potassium two pore domain channel subfamily K 277 2005-01-07 2016-02-04 2016-10-05 338567 ENSG00000186795 OTTHUMG00000019120 uc010qsr.2 AB087138 NM_181840 CCDS7598 Q7Z418 16382106 MGI:2685627 RGD:1303091 613655 objectId:527 HGNC:19439 "ENST00000334549.1|NM_181840.1" HGNC:19439 +HGNC:6284 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "KCa1.1|mSLO1" "BK channel alpha subunit|maxiK channel|big potassium channel alpha subunit" SLO "potassium large conductance calcium-activated channel, subfamily M, alpha member 1|potassium channel, calcium activated large conductance subfamily M alpha, member 1" Potassium calcium-activated channels 255 1994-12-15 2016-02-04 2016-10-05 3778 ENSG00000156113 OTTHUMG00000018543 uc001jxm.4 U11717 NM_002247 "CCDS60571|CCDS81481|CCDS53545|CCDS7352|CCDS60569|CCDS86106|CCDS86115|CCDS86116|CCDS86121|CCDS73156|CCDS60572" Q12791 "7987297|16382103" MGI:99923 RGD:620715 600150 122795 objectId:380 HGNC:6284 "ENST00000286628.14|NM_001161352.2" HGNC:6284 +HGNC:51213 KCNMA1-AS1 KCNMA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2014-08-07 2014-08-07 101929328 ENSG00000236467 OTTHUMG00000018534 BX092192 NR_120655 KCNMA1-AS1 HGNC:51213 +HGNC:51214 KCNMA1-AS2 KCNMA1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2014-08-07 2014-08-07 101929310 ENSG00000225497 OTTHUMG00000018537 NR_120654 KCNMA1-AS2 HGNC:51214 +HGNC:51215 KCNMA1-AS3 KCNMA1 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2014-08-07 2014-08-07 101929286 ENSG00000225652 OTTHUMG00000018539 "AA453582|AW510993" NR_126365 KCNMA1-AS3 HGNC:51215 +HGNC:6285 KCNMB1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 hslo-beta "BK channel beta subunit 1|MaxiK channel beta-subunit 1|big potassium channel beta subunit 1" "potassium large conductance calcium-activated channel, subfamily M, beta member 1|potassium channel subfamily M regulatory beta subunit 1" Potassium calcium-activated channel subfamily M regulatory beta subunits 857 1997-12-05 2016-02-04 2016-10-11 3779 ENSG00000145936 OTTHUMG00000130439 uc003maq.3 AF035046 NM_004137 CCDS4373 Q16558 "8799178|9888999" MGI:1334203 RGD:2961 603951 HGNC:6285 "ENST00000274629.9|NM_004137.4" +HGNC:6286 KCNMB2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "BK channel beta subunit 2|MaxiK channel beta-subunit 2|big potassium channel beta subunit 2" "potassium large conductance calcium-activated channel, subfamily M, beta member 2|potassium channel subfamily M regulatory beta subunit 2" Potassium calcium-activated channel subfamily M regulatory beta subunits 857 1999-06-04 2016-02-04 2016-02-04 10242 ENSG00000197584 OTTHUMG00000157264 uc062qdk.1 AF099137 NM_181361 CCDS3223 Q9Y691 10097176 MGI:1919663 RGD:631398 605214 HGNC:6286 "ENST00000452583.6|NM_181361.3" +HGNC:51409 KCNMB2-AS1 KCNMB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 RP11-385J1.2 Antisense RNAs 1987 2014-11-20 2015-02-09 104797538 ENSG00000237978 OTTHUMG00000157289 "BG977814|BG206373|DA735220" NR_126560 25394782 KCNMB2-AS1 HGNC:51409 +HGNC:6287 KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "BK channel beta subunit 3|MaxiK channel beta-subunit 3|big potassium channel beta subunit 3" "KCNMB2|KCNMBL" "potassium large conductance calcium-activated channel, subfamily M beta member 3|potassium channel subfamily M regulatory beta subunit 3" Potassium calcium-activated channel subfamily M regulatory beta subunits 857 2000-01-07 2016-02-04 2016-10-05 27094 ENSG00000171121 OTTHUMG00000157337 uc003fjn.4 AF139471 NM_001163677 "CCDS3226|CCDS43172|CCDS54683|CCDS43173|CCDS3225" Q9NPA1 10585773 MGI:3612244 RGD:1311852 605222 HGNC:6287 "ENST00000392685.7|NM_171830.2" +HGNC:6288 KCNMB3P1 KCNMB3 pseudogene 1 pseudogene pseudogene Approved 22q11.1 22q11.1 KCNMB3L1 "KCNMB2L|KCNMBLP|KCNMB3L" "potassium large conductance calcium-activated channel, subfamily M, beta member 3-like|potassium large conductance calcium-activated channel, subfamily M, beta member 3 pseudogene 1|potassium channel subfamily M regulatory beta subunit 3 pseudogene 1|potassium calcium-activated channel subfamily M regulatory beta subunit 3 pseudogene 1" 2000-01-07 2010-10-21 2019-11-26 2019-11-26 27093 ENSG00000239435 OTTHUMG00000141303 AP000365 NG_002679 10585773 HGNC:6288 +HGNC:6289 KCNMB4 potassium calcium-activated channel subfamily M regulatory beta subunit 4 protein-coding gene gene with protein product Approved 12q15 12q15 "BK channel beta subunit 4|MaxiK channel beta-subunit 4|big potassium channel beta subunit 4" "potassium large conductance calcium-activated channel, subfamily M, beta member 4|potassium channel subfamily M regulatory beta subunit 4" Potassium calcium-activated channel subfamily M regulatory beta subunits 857 2000-02-02 2016-02-04 2016-02-04 27345 ENSG00000135643 OTTHUMG00000167586 uc001svx.4 AF207992 NM_014505 CCDS8997 Q86W47 "10692449|10828459" MGI:1913272 RGD:620728 605223 HGNC:6289 "ENST00000258111.5|NM_014505.6" +HGNC:6290 KCNN1 potassium calcium-activated channel subfamily N member 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KCa2.1|hSK1" small conductance calcium-activated potassium channel 1 "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1" Potassium calcium-activated channels 255 1998-04-07 2016-02-04 2016-10-11 3780 ENSG00000105642 OTTHUMG00000183482 uc002nht.4 U69883 NM_002248 CCDS67611 Q92952 "8781233|10516439|16382103" MGI:1933993 RGD:2962 602982 objectId:381 HGNC:6290 "ENST00000684775.1|NM_001386974.1" +HGNC:6291 KCNN2 potassium calcium-activated channel subfamily N member 2 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "KCa2.2|hSK2" small conductance calcium-activated potassium channel 2 "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2" Potassium calcium-activated channels 255 1998-04-07 2016-02-04 2016-02-04 3781 ENSG00000080709 OTTHUMG00000128836 uc003kqo.5 AF239613 NM_021614 CCDS43352 Q9H2S1 16382103 MGI:2153182 RGD:2963 605879 objectId:382 HGNC:6291 "ENST00000673685.1|NM_021614.4" +HGNC:6292 KCNN3 potassium calcium-activated channel subfamily N member 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KCa2.3|hSK3|SKCA3" small conductance calcium-activated potassium channel 3 "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3" Potassium calcium-activated channels 255 1998-04-07 2016-02-04 2016-02-04 3782 ENSG00000143603 OTTHUMG00000037260 uc001ffp.4 AF031815 NM_002249 "CCDS72928|CCDS1072|CCDS30880" Q9UGI6 "9491810|16382103" MGI:2153183 RGD:2964 602983 objectId:383 HGNC:6292 "ENST00000271915.9|NM_002249.6" HGNC:6292 +HGNC:6293 KCNN4 potassium calcium-activated channel subfamily N member 4 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "KCa3.1|hSK4|hKCa4|hIKCa1|IK" "small conductance calcium-activated potassium channel 4|intermediate conductance calcium-activated potassium channel" "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4|potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4" Potassium calcium-activated channels 255 1998-04-07 2016-02-04 2021-04-13 3783 ENSG00000104783 OTTHUMG00000182779 uc002oxl.3 AF022797 NM_002250 CCDS12630 O15554 "9380751|9407042|16382103" MGI:1277957 RGD:621476 LRG_1305|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1305.xml 602754 442943 objectId:384 HGNC:6293 "ENST00000648319.1|NM_002250.3" HGNC:6293 +HGNC:6294 KCNQ1 potassium voltage-gated channel subfamily Q member 1 protein-coding gene gene with protein product Approved 11p15.5-p15.4 11p15.5-p15.4 "Kv7.1|KCNA8|KVLQT1|JLNS1|LQT1" Jervell and Lange-Nielsen syndrome 1 "LQT|KCNA9" "potassium voltage-gated channel, KQT-like subfamily, member 1|potassium channel, voltage gated KQT-like subfamily Q, member 1" Potassium voltage-gated channels 274 1997-02-05 2016-02-04 2021-05-26 3784 ENSG00000053918 OTTHUMG00000009900 uc001lwn.4 AF000571 NM_000218 CCDS7736 P51787 "8528244|16382104" MGI:108083 RGD:621503 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|KCNQ1 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=KCNQ1|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=KCNQ1|LRG_287|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_287.xml" 607542 122800 objectId:560 HGNC:6294 "ENST00000155840.12|NM_000218.3" HGNC:6294 +HGNC:42790 KCNQ1-AS1 KCNQ1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 KCNQ1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-19 2012-08-15 2014-11-19 338653 ENSG00000229414 OTTHUMG00000011704 uc057xys.1 AJ251642 NR_130721 KCNQ1-AS1 HGNC:42790 +HGNC:13335 KCNQ1DN KCNQ1 downstream neighbor non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 "BWRT|HSA404617" "KCNQ1 downstream neighbor|KCNQ1 downstream neighbor (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2004-06-07 2018-05-16 2018-05-16 55539 ENSG00000237941 OTTHUMG00000009942 uc009ydq.4 AB039920 NR_024627 Q9H478 "11056398|11063728|22067257" 610980 KCNQ1DN HGNC:13335 +HGNC:6295 KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 "KvDMR1|KCNQ1-AS2|KvLQT1-AS|LIT1|NCRNA00012" "non-protein coding RNA 12|KCNQ1 antisense RNA 2 (non-protein coding)|KCNQ1 overlapping transcript 1 (non-protein coding)" KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 1999-08-05 2018-05-16 2021-04-13 10984 ENSG00000269821 OTTHUMG00000171022 uc001lwp.4 NR_002728 "10220444|12772698" MGI:1926855 LRG_1052|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1052.xml 604115 138711 Kcnq1ot1 KCNQ1OT1 HGNC:6295 HGNC:6295 +HGNC:6296 KCNQ2 potassium voltage-gated channel subfamily Q member 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "Kv7.2|ENB1|BFNC|KCNA11|HNSPC" "EBN|EBN1" "potassium voltage-gated channel, KQT-like subfamily, member 2|potassium channel, voltage gated KQT-like subfamily Q, member 2" Potassium voltage-gated channels 274 1998-01-12 2016-02-04 2021-05-26 3785 ENSG00000075043 OTTHUMG00000033049 uc002yey.2 AF033348 NM_172109 "CCDS13520|CCDS13521|CCDS13519|CCDS13518|CCDS46629" O43526 "9425895|16382104" MGI:1309503 RGD:621504 602235 122808 objectId:561 HGNC:6296 "ENST00000359125.7|NM_172107.4" HGNC:6296 +HGNC:40321 KCNQ2-AS1 KCNQ2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2019-08-15 2019-08-15 105372720 ENSG00000226390 OTTHUMG00000032967 XR_001754758 HGNC:40321 +HGNC:6297 KCNQ3 potassium voltage-gated channel subfamily Q member 3 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 Kv7.3 EBN2 "potassium voltage-gated channel, KQT-like subfamily, member 3|potassium channel, voltage gated KQT-like subfamily Q, member 3" Potassium voltage-gated channels 274 1998-01-12 2016-02-04 2021-05-26 3786 ENSG00000184156 OTTHUMG00000137472 uc003ytj.4 AB208890 NM_004519 "CCDS56554|CCDS34943" O43525 "9425900|16382104" MGI:1336181 RGD:69222 602232 122817 objectId:562 HGNC:6297 "ENST00000388996.10|NM_004519.4" HGNC:6297 +HGNC:6298 KCNQ4 potassium voltage-gated channel subfamily Q member 4 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Kv7.4 DFNA2 "potassium voltage-gated channel, KQT-like subfamily, member 4|potassium channel, voltage gated KQT-like subfamily Q, member 4" Potassium voltage-gated channels 274 1999-02-05 2016-02-04 2021-05-26 9132 ENSG00000117013 OTTHUMG00000007730 uc001cgh.2 AF105202 NM_004700 CCDS456 P56696 "10025409|16382104" MGI:1926803 RGD:61799 LRG_1378|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1378.xml 603537 122821 objectId:563 HGNC:6298 "ENST00000347132.10|NM_004700.4" HGNC:6298 +HGNC:6299 KCNQ5 potassium voltage-gated channel subfamily Q member 5 protein-coding gene gene with protein product Approved 6q13 06q13 Kv7.5 "potassium voltage-gated channel, KQT-like subfamily, member 5|potassium channel, voltage gated KQT-like subfamily Q, member 5" Potassium voltage-gated channels 274 2000-08-11 2016-02-04 2021-05-26 56479 ENSG00000185760 OTTHUMG00000015020 uc003pgk.4 AF202977 NM_019842 "CCDS4976|CCDS55035|CCDS55034|CCDS55037" Q9NR82 "10787416|10816588|16382104" MGI:1924937 RGD:628848 607357 470538 objectId:564 HGNC:6299 "ENST00000370398.6|NM_019842.4" HGNC:6299 +HGNC:40323 KCNQ5-AS1 KCNQ5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 KCNQ5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-23 2012-08-15 2014-11-19 100873997 ENSG00000229154 OTTHUMG00000015018 uc031spb.1 NR_046621 KCNQ5-AS1 HGNC:40323 +HGNC:55469 KCNQ5-DT KCNQ5 divergent transcript non-coding RNA RNA, long non-coding Approved 6q13 06q13 CATG00000088862.1 Divergent transcripts 1990 2021-03-11 2021-03-11 112267960 ENSG00000285844 32718982 +HGNC:41354 KCNQ5-IT1 KCNQ5 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 KCNQ5 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-23 2015-02-25 2015-02-25 100507381 ENSG00000233844 OTTHUMG00000015014 uc063pnj.1 NR_120503 KCNQ5-IT1 HGNC:41354 +HGNC:18893 KCNRG potassium channel regulator protein-coding gene gene with protein product Approved 13q14.2 13q14.2 2003-02-25 2016-10-05 283518 ENSG00000198553 OTTHUMG00000140140 uc001vdu.3 NM_173605 "CCDS9424|CCDS41889" Q8N5I3 MGI:2685591 RGD:1307199 607947 HGNC:18893 "ENST00000312942.2|NM_173605.2" +HGNC:6300 KCNS1 potassium voltage-gated channel modifier subfamily S member 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 Kv9.1 "potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1|potassium voltage-gated channel, modifier subfamily S, member 1" Potassium voltage-gated channels 274 1998-04-06 2016-02-04 2016-10-05 3787 ENSG00000124134 OTTHUMG00000033079 uc002xnc.4 AF043473 NM_002251 CCDS13342 Q96KK3 "9305895|16382104" MGI:1197019 RGD:621524 602905 objectId:567 HGNC:6300 "ENST00000537075.3|NM_001322799.2" +HGNC:6301 KCNS2 potassium voltage-gated channel modifier subfamily S member 2 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 Kv9.2 "potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2|potassium voltage-gated channel, modifier subfamily S, member 2" Potassium voltage-gated channels 274 1998-04-06 2016-02-04 2016-10-05 3788 ENSG00000156486 OTTHUMG00000044337 uc003yin.4 AB032970 NM_020697 CCDS6279 Q9ULS6 "9305895|16382104" MGI:1197011 RGD:621525 602906 objectId:568 HGNC:6301 "ENST00000287042.5|NM_020697.4" +HGNC:6302 KCNS3 potassium voltage-gated channel modifier subfamily S member 3 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 Kv9.3 "potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3|potassium voltage-gated channel, modifier subfamily S, member 3" Potassium voltage-gated channels 274 1998-04-06 2016-02-04 2016-10-05 3790 ENSG00000170745 OTTHUMG00000044150 uc002rcv.4 AF043472 NM_002252 CCDS1692 Q9BQ31 "10484328|16382104" MGI:1098804 RGD:621527 603888 objectId:569 HGNC:6302 "ENST00000304101.9|NM_002252.5" +HGNC:18865 KCNT1 potassium sodium-activated channel subfamily T member 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "KCa4.1|KIAA1422|SLACK|Slo2.2" Sequence like a calcium-activated K+ channel "potassium channel, subfamily T, member 1|potassium channel, sodium activated subfamily T, member 1" Potassium sodium-activated channel subfamily T 856 2002-07-10 2016-02-04 2016-04-25 57582 ENSG00000107147 OTTHUMG00000020917 uc011mdq.3 AB037843 NM_020822 "CCDS65188|CCDS35175" Q5JUK3 "10718198|16382103" MGI:1924627 RGD:621106 608167 317382 objectId:385 HGNC:18865 "ENST00000371757.7|NM_020822.3" HGNC:18865 +HGNC:18866 KCNT2 potassium sodium-activated channel subfamily T member 2 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "KCa4.2|SLICK|SLO2.1" sodium and chloride activated ATP sensitive potassium channel "potassium channel, subfamily T, member 2|potassium channel, sodium activated subfamily T, member 2" "Potassium sodium-activated channel subfamily T |MicroRNA protein coding host genes" "856|1691" 2002-07-10 2016-02-04 2016-02-04 343450 ENSG00000162687 OTTHUMG00000035611 uc001gtd.3 "BX647852|AY359444|AK127807" NM_198503 "CCDS1384|CCDS72994|CCDS72995" Q6UVM3 16382103 MGI:3036273 RGD:735074 610044 objectId:386 HGNC:18866 "ENST00000294725.14|NM_198503.5" HGNC:18866 +HGNC:18867 KCNU1 potassium calcium-activated channel subfamily U member 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "KCa5.1|Slo3|KCNMC1|Kcnma3" potassium channel, subfamily U, member 1 Potassium calcium-activated channels 255 2002-07-10 2016-02-04 2016-10-11 157855 ENSG00000215262 OTTHUMG00000163981 uc010lvw.5 BC028701 NM_001031836 CCDS55220 A8MYU2 16382103 MGI:1202300 RGD:1585877 615215 objectId:387 HGNC:18867 "ENST00000399881.8|NM_001031836.3" +HGNC:18861 KCNV1 potassium voltage-gated channel modifier subfamily V member 1 protein-coding gene gene with protein product Approved 8q23.2 08q23.2 Kv8.1 "potassium channel, subfamily V, member 1|potassium channel, voltage gated modifier subfamily V, member 1" Potassium voltage-gated channels 274 2002-07-10 2016-02-04 2016-02-04 27012 ENSG00000164794 OTTHUMG00000165637 uc010mcw.4 AF167082 NM_014379 CCDS6314 Q6PIU1 "8670833|16382104" MGI:1914748 RGD:621264 608164 objectId:565 HGNC:18861 "ENST00000524391.6|NM_014379.4" +HGNC:19698 KCNV2 potassium voltage-gated channel modifier subfamily V member 2 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 Kv8.2 "potassium channel, subfamily V, member 2|potassium channel, voltage gated modifier subfamily V, member 2" Potassium voltage-gated channels 274 2002-11-20 2016-02-04 2021-05-26 169522 ENSG00000168263 OTTHUMG00000019449 uc003zho.3 AF348983 NM_133497 CCDS6447 Q8TDN2 "12060745|16382104" MGI:2670981 RGD:1309271 607604 159360 objectId:566 HGNC:19698 "ENST00000382082.4|NM_133497.4" HGNC:19698 +HGNC:17585 KCP kielin cysteine rich BMP regulator protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "FLJ33365|NET67" kielin CRIM2 "cysteine rich BMP regulator 2 (chordin-like)|kielin/chordin-like protein" Cysteine rich transmembrane BMP regulators 1660 2005-07-25 2009-02-18 2018-08-09 2018-08-09 375616 ENSG00000135253 OTTHUMG00000158363 uc064hvz.1 AK122706 NM_199349 Q6ZWJ8 15793581 MGI:2141640 RGD:1561119 609344 HGNC:17585 "ENST00000610776.5|NM_001366122.1" +HGNC:18249 KCTD1 potassium channel tetramerization domain containing 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 C18orf5 potassium channel tetramerisation domain containing 1 "MicroRNA protein coding host genes|KCTD family" "1691|1815" 2002-02-19 2013-06-20 2021-05-26 284252 ENSG00000134504 OTTHUMG00000131947 uc010xbk.5 AF542549 NM_001136205 CCDS11888 Q719H9 MGI:1918269 RGD:621566 613420 331979 HGNC:18249 "ENST00000580059.7|NM_001142730.3" HGNC:18249 +HGNC:21294 KCTD2 potassium channel tetramerization domain containing 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA0176 potassium channel tetramerisation domain containing 2 KCTD family 1815 2003-06-02 2013-06-20 2016-10-11 23510 ENSG00000180901 OTTHUMG00000179276 uc002jmp.4 BC033329 NM_015353 CCDS32728 Q14681 12620391 MGI:1917632 RGD:1566063 613422 HGNC:21294 "ENST00000322444.7|NM_015353.3" +HGNC:21305 KCTD3 potassium channel tetramerization domain containing 3 protein-coding gene gene with protein product Approved 1q41 01q41 NY-REN-45 potassium channel tetramerisation domain containing 3 "WD repeat domain containing|KCTD family" "362|1815" 2003-06-03 2013-06-20 2021-05-26 51133 ENSG00000136636 OTTHUMG00000037019 uc001hks.5 AK024547 NM_016121 CCDS1515 Q9Y597 10508479 MGI:2444629 RGD:1310658 613272 HGNC:21305 "ENST00000259154.9|NM_016121.5" +HGNC:23227 KCTD4 potassium channel tetramerization domain containing 4 protein-coding gene gene with protein product Approved 13q14.12-q14.13 13q14.12-q14.13 bA321C24.3 potassium channel tetramerisation domain containing 4 KCTD family 1815 2003-10-28 2013-06-20 2014-11-19 386618 ENSG00000180332 OTTHUMG00000016844 uc058wts.1 BC018063 NM_198404 CCDS9396 Q8WVF5 MGI:1914766 RGD:1594637 HGNC:23227 "ENST00000379108.2|NM_198404.3" +HGNC:21423 KCTD5 potassium channel tetramerization domain containing 5 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ20040 potassium channel tetramerisation domain containing 5 KCTD family 1815 2003-10-28 2013-06-20 2019-02-21 54442 ENSG00000167977 OTTHUMG00000128930 uc002crd.5 AK000047 NM_018992 CCDS10475 Q9NXV2 "18573101|19361449" MGI:1916509 RGD:1304990 611285 HGNC:21423 "ENST00000301738.9|NM_018992.4" +HGNC:54736 KCTD5P1 KCTD5 pseudogene 1 pseudogene pseudogene Approved 2q37.3 02q37.3 2019-12-19 2019-12-19 100422094 ENSG00000224232 NG_023775 +HGNC:22235 KCTD6 potassium channel tetramerization domain containing 6 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "MGC27385|KCASH3" potassium channel tetramerisation domain containing 6 KCTD family 1815 2003-10-28 2013-06-20 2016-10-05 200845 ENSG00000168301 OTTHUMG00000159161 uc003dkj.5 AK074934 NM_153331 CCDS2891 Q8NC69 21472142 MGI:1918643 RGD:1308208 618791 HGNC:22235 "ENST00000404589.8|NM_001128214.2" +HGNC:21957 KCTD7 potassium channel tetramerization domain containing 7 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "FLJ32069|EPM3|CLN14" potassium channel tetramerisation domain containing 7 KCTD family 1815 2003-10-28 2013-06-20 2021-05-26 154881 ENSG00000243335 OTTHUMG00000129543 uc003tve.4 AK056631 NM_153033 "CCDS55117|CCDS5534" Q96MP8 "22606975|22748208" MGI:2442265 RGD:1582914 LRG_835|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_835.xml 611725 268343 HGNC:21957 "ENST00000639828.2|NM_153033.5" HGNC:21957 +HGNC:22394 KCTD8 potassium channel tetramerization domain containing 8 protein-coding gene gene with protein product Approved 4p13 04p13 potassium channel tetramerisation domain containing 8 KCTD family 1815 2003-10-28 2013-06-20 2014-11-19 386617 ENSG00000183783 OTTHUMG00000099409 uc003gwu.4 AK123347 NM_198353 CCDS3467 Q6ZWB6 MGI:2443804 RGD:1312020 618442 objectId:1917 HGNC:22394 "ENST00000360029.4|NM_198353.3" +HGNC:22401 KCTD9 potassium channel tetramerization domain containing 9 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "FLJ20038|BTBD27" potassium channel tetramerisation domain containing 9 "BTB domain containing|KCTD family" "861|1815" 2003-10-28 2013-06-20 2016-10-05 54793 ENSG00000104756 OTTHUMG00000099428 uc003xeo.4 BC021216 NM_017634 CCDS6048 Q7L273 11483580 MGI:2145579 RGD:1312010 617265 HGNC:22401 "ENST00000221200.9|NM_017634.4" +HGNC:21428 KCTD9P1 potassium channel tetramerization domain containing 9 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 HsT38306 potassium channel tetramerisation domain containing 9 pseudogene 1 2005-12-20 2013-06-20 2020-04-20 100422273 ENSG00000225014 OTTHUMG00000059512 NG_026227 PGOHUM00000237281 HGNC:21428 +HGNC:29274 KCTD9P2 potassium channel tetramerization domain containing 9 pseudogene 2 pseudogene pseudogene Approved Xq22.3 Xq22.3 KCTD9L "potassium channel tetramerisation domain containing 9-like|potassium channel tetramerisation domain containing 9 pseudogene 2" 2007-02-13 2008-12-15 2013-06-20 2014-11-19 643535 ENSG00000181819 OTTHUMG00000022140 NG_011074 PGOHUM00000241936 HGNC:29274 +HGNC:49912 KCTD9P3 potassium channel tetramerization domain containing 9 pseudogene 3 pseudogene pseudogene Approved 9p13.2 09p13.2 2014-03-21 2014-03-21 647013 ENSG00000187988 OTTHUMG00000019919 NG_021645 PGOHUM00000236456 HGNC:49912 +HGNC:49913 KCTD9P4 potassium channel tetramerization domain containing 9 pseudogene 4 pseudogene pseudogene Approved 11q23.1 11q23.1 2014-03-21 2014-03-21 100422242 ENSG00000214264 OTTHUMG00000167156 NG_024561 PGOHUM00000257923 HGNC:49913 +HGNC:49914 KCTD9P5 potassium channel tetramerization domain containing 9 pseudogene 5 pseudogene pseudogene Approved 5p13.2 05p13.2 2014-03-21 2014-03-21 100422179 ENSG00000248216 OTTHUMG00000162264 NG_024585 PGOHUM00000235191 HGNC:49914 +HGNC:49915 KCTD9P6 potassium channel tetramerization domain containing 9 pseudogene 6 pseudogene pseudogene Approved 8p12 08p12 2014-03-21 2014-03-21 642513 ENSG00000229211 OTTHUMG00000163896 NG_030274 PGOHUM00000257186 HGNC:49915 +HGNC:23236 KCTD10 potassium channel tetramerization domain containing 10 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "MSTP028|BTBD28" potassium channel tetramerisation domain containing 10 "BTB domain containing|KCTD family" "861|1815" 2003-10-28 2013-06-20 2019-02-21 83892 ENSG00000110906 OTTHUMG00000169253 uc001toi.2 BC040062 NM_031954 CCDS9128 Q9H3F6 "19125419|22810651" MGI:2141207 RGD:1591979 613421 HGNC:23236 "ENST00000228495.11|NM_031954.5" +HGNC:49807 KCTD10P1 potassium channel tetramerization domain containing 10 pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 2014-03-06 2014-03-06 100422230 ENSG00000224955 OTTHUMG00000019720 NG_023794 PGOHUM00000235998 HGNC:49807 +HGNC:21302 KCTD11 potassium channel tetramerization domain containing 11 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "REN|KCASH1" C17orf36 "chromosome 17 open reading frame 36|potassium channel tetramerisation domain containing 11" KCTD family 1815 2003-06-10 2003-11-26 2013-06-20 2016-10-05 147040 ENSG00000213859 OTTHUMG00000132061 uc002gge.5 AK056227 NM_001002914 CCDS32545 Q693B1 "12186855|21472142" MGI:2448712 RGD:1307125 609848 HGNC:21302 "ENST00000333751.8|NM_001363642.1" +HGNC:14678 KCTD12 potassium channel tetramerization domain containing 12 protein-coding gene gene with protein product Approved 13q22.3 13q22.3 "KIAA1778|PFET1" predominantly fetal expressed T1 domain C13orf2 "chromosome 13 open reading frame 2|potassium channel tetramerisation domain containing 12" KCTD family 1815 2001-03-14 2003-11-26 2013-06-20 2016-10-05 115207 ENSG00000178695 OTTHUMG00000017096 uc010aeu.2 AF359381 NM_138444 CCDS9455 Q96CX2 15357420 MGI:2145823 RGD:1309421 610521 objectId:1918 HGNC:14678 "ENST00000377474.4|NM_138444.4" +HGNC:22234 KCTD13 potassium channel tetramerization domain containing 13 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "PDIP1|FKSG86|POLDIP1" "polymerase delta-interacting protein 1|TNFAIP1-like" potassium channel tetramerisation domain containing 13 KCTD family 1815 2003-11-24 2013-06-20 2014-11-19 253980 ENSG00000174943 OTTHUMG00000132120 uc002duv.5 AF289573 NM_178863 CCDS10661 Q8WZ19 11593007 MGI:1923739 RGD:735189 608947 470540 HGNC:22234 "ENST00000568000.6|NM_178863.5" +HGNC:55585 KCTD13-DT KCTD13 divergent transcript non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Divergent transcripts 1990 2021-04-26 2021-04-26 107984836 ENSG00000247735 XR_001752362 +HGNC:23295 KCTD14 potassium channel tetramerization domain containing 14 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 MGC2376 potassium channel tetramerisation domain containing 14 KCTD family 1815 2003-11-05 2013-06-20 2016-10-05 65987 ENSG00000151364 OTTHUMG00000150224 uc001oyw.5 BC001062 NM_023930 "CCDS60908|CCDS8255" Q9BQ13 12477932 MGI:1289222 RGD:1306430 HGNC:23295 "ENST00000353172.6|NM_023930.4" +HGNC:23297 KCTD15 potassium channel tetramerization domain containing 15 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 MGC25497 potassium channel tetramerisation domain containing 15 KCTD family 1815 2003-11-05 2013-06-20 2019-02-21 79047 ENSG00000153885 OTTHUMG00000180475 uc002nuw.5 AK025590 NM_024076 "CCDS12434|CCDS46039" Q96SI1 29665387 MGI:2385276 RGD:1583737 615240 HGNC:23297 "ENST00000683859.1|NM_001129994.2" +HGNC:29244 KCTD16 potassium channel tetramerization domain containing 16 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 KIAA1317 potassium channel tetramerisation domain containing 16 KCTD family 1815 2004-03-19 2013-06-20 2018-11-16 57528 ENSG00000183775 OTTHUMG00000163172 uc003lnm.2 AB037738 NM_020768 CCDS34260 Q68DU8 10718198 MGI:1914659 RGD:1559856 613423 objectId:1920 HGNC:29244 "ENST00000512467.6|NM_020768.4" +HGNC:25705 KCTD17 potassium channel tetramerization domain containing 17 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 FLJ12242 potassium channel tetramerisation domain containing 17 KCTD family 1815 2005-02-08 2013-06-20 2021-11-24 79734 ENSG00000100379 OTTHUMG00000150532 uc011amv.4 BC025403 NM_024681 "CCDS74855|CCDS13940" Q8N5Z5 "25270598|25983243" MGI:1920094 RGD:1311154 616386 477195 HGNC:25705 "ENST00000403888.8|NM_001282684.2" HGNC:25705 +HGNC:26446 KCTD18 potassium channel tetramerization domain containing 18 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "FLJ31322|6530404F10Rik|FLJ37818" potassium channel tetramerisation domain containing 18 KCTD family 1815 2005-02-08 2013-06-20 2015-08-25 130535 ENSG00000155729 OTTHUMG00000132781 uc002uvs.4 AK055884 NM_152387 CCDS2330 Q6PI47 MGI:3603813 RGD:1564820 HGNC:26446 "ENST00000359878.8|NM_152387.4" +HGNC:24753 KCTD19 potassium channel tetramerization domain containing 19 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ40162 potassium channel tetramerisation domain containing 19 KCTD family 1815 2005-02-08 2013-06-20 2019-08-20 146212 ENSG00000168676 OTTHUMG00000173075 uc002esu.3 AK097481 NM_001100915 CCDS42179 Q17RG1 MGI:3045294 RGD:1561326 HGNC:24753 "ENST00000304372.6|NM_001100915.3" +HGNC:21052 KCTD20 potassium channel tetramerization domain containing 20 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "dJ108K11.3|MGC14254" C6orf69 "chromosome 6 open reading frame 69|potassium channel tetramerisation domain containing 20" KCTD family 1815 2003-05-12 2006-06-26 2013-06-20 2014-11-18 222658 ENSG00000112078 OTTHUMG00000014597 uc003ome.4 BC023525 NM_173562 "CCDS4821|CCDS69097|CCDS69096" Q7Z5Y7 MGI:1914239 RGD:1309887 615932 HGNC:21052 "ENST00000373731.7|NM_173562.5" +HGNC:27452 KCTD21 potassium channel tetramerization domain containing 21 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 KCASH2 potassium channel tetramerisation domain containing 21 KCTD family 1815 2006-07-03 2013-06-20 2020-01-06 283219 ENSG00000188997 OTTHUMG00000166497 uc001ozb.4 AK095233 NM_001029859 CCDS31645 Q4G0X4 21472142 MGI:3643121 RGD:1559529 618790 HGNC:27452 "ENST00000340067.4|NM_001029859.3" +HGNC:48674 KCTD21-AS1 KCTD21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Antisense RNAs 1987 2013-06-06 2013-06-06 100289388 ENSG00000246174 OTTHUMG00000166595 NR_102280 KCTD21-AS1 HGNC:48674 +HGNC:6304 KDELR1 KDEL endoplasmic reticulum protein retention receptor 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "ERD2.1|ERD2|HDEL" KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 KDEL endoplasmic reticulum protein retention receptors 1894 1999-08-20 2015-12-11 2015-12-11 10945 ENSG00000105438 OTTHUMG00000183215 uc002pjb.1 X55885 NM_006801 CCDS12718 P24390 2172835 MGI:1915387 RGD:1306764 131235 HGNC:6304 "ENST00000330720.7|NM_006801.3" +HGNC:6305 KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "ELP-1|ERD2.2" KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 KDEL endoplasmic reticulum protein retention receptors 1894 1999-08-20 2015-12-11 2016-10-11 11014 ENSG00000136240 OTTHUMG00000023103 uc003sqe.5 X63745 NM_001100603 "CCDS5351|CCDS43550" P33947 "1316805|1325562" MGI:1914163 RGD:1304618 609024 HGNC:6305 "ENST00000258739.9|NM_006854.4" HGNC:6305 +HGNC:6306 KDELR3 KDEL endoplasmic reticulum protein retention receptor 3 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 KDEL endoplasmic reticulum protein retention receptors 1894 1999-08-19 2015-12-11 2016-10-11 11015 ENSG00000100196 OTTHUMG00000153520 uc003avv.4 AL035081 NM_006855 "CCDS46705|CCDS13972" O43731 MGI:2145953 RGD:1311536 HGNC:6306 "ENST00000216014.9|NM_006855.4" +HGNC:26624 KDF1 keratinocyte differentiation factor 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FLJ34633|RP11-344H11.3" C1orf172 chromosome 1 open reading frame 172 2005-07-21 2014-04-29 2014-04-29 2021-05-26 126695 ENSG00000175707 OTTHUMG00000004272 AK091952 NM_152365 CCDS293 Q8NAX2 24075906 MGI:1916323 RGD:1303271 616758 HGNC:26624 "ENST00000320567.6|NM_152365.3" HGNC:26624 +HGNC:29079 KDM1A lysine demethylase 1A protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA0601|BHC110|LSD1" Lysine-specific histone demethylase 1A "AOF2|KDM1" "amine oxidase (flavin containing) domain 2|lysine (K)-specific demethylase 1" "Lysine demethylases|MicroRNA protein coding host genes" "485|1691" 2004-02-26 2009-09-29 2016-02-12 2021-05-26 23028 ENSG00000004487 OTTHUMG00000003220 uc001bgi.3 AL031428 NM_015013 "CCDS53278|CCDS85939|CCDS30627" O60341 "9628581|12493763" MGI:1196256 RGD:1562975 609132 478263 objectId:2669 HGNC:29079 "ENST00000400181.9|NM_001009999.3" HGNC:29079 +HGNC:21577 KDM1B lysine demethylase 1B protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "FLJ34109|FLJ33898|dJ298J15.2|bA204B7.3|FLJ43328|LSD2" "C6orf193|AOF1" "amine oxidase, flavin containing 1|chromosome 6 open reading frame 193|amine oxidase (flavin containing) domain 1|lysine (K)-specific demethylase 1B" "Zinc fingers CW-type|Lysine demethylases" "96|485" 2003-06-25 2009-09-29 2016-02-12 2016-02-12 221656 ENSG00000165097 OTTHUMG00000014316 uc003ncn.2 AK125318 NM_153042 CCDS34343 Q8NB78 "19407342|19727073" MGI:2145261 RGD:1310701 613081 objectId:2670 HGNC:21577 "ENST00000650836.2|NM_001364614.2" +HGNC:13606 KDM2A lysine demethylase 2A protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "KIAA1004|FBL11|LILINA|DKFZP434M1735|FBL7|FLJ00115|CXXC8|JHDM1A" "F-box protein FBL11|jumonji C domain-containing histone demethylase 1A" FBXL11 "F-box and leucine-rich repeat protein 11|lysine (K)-specific demethylase 2A" "PHD finger proteins|Zinc fingers CXXC-type|Lysine demethylases|F-box and leucine rich repeat proteins" "88|136|485|558" 2000-09-27 2009-04-06 2016-02-12 2016-10-05 22992 ENSG00000173120 OTTHUMG00000167103 uc001ojw.4 BC047486 NM_012308 "CCDS44657|CCDS58148" Q9Y2K7 "10231032|10531037" MGI:1354736 RGD:1309419 605657 objectId:2671 HGNC:13606 "ENST00000529006.7|NM_012308.3" +HGNC:13610 KDM2B lysine demethylase 2B protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "PCCX2|CXXC2|Fbl10|JHDM1B" jumonji C domain-containing histone demethylase 1B FBXL10 "F-box and leucine-rich repeat protein 10|lysine (K)-specific demethylase 2B" "PHD finger proteins|Zinc fingers CXXC-type|Lysine demethylases|F-box and leucine rich repeat proteins|MicroRNA protein coding host genes" "88|136|485|558|1691" 2004-01-06 2009-04-06 2016-02-12 2016-02-12 84678 ENSG00000089094 OTTHUMG00000169071 uc058uhq.1 AJ459424 NM_032590 "CCDS41850|CCDS41849" Q8NHM5 10799292 MGI:1354737 RGD:1310217 609078 objectId:2672 HGNC:13610 "ENST00000377071.9|NM_032590.5" +HGNC:53287 KDM2B-DT KDM2B divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Divergent transcripts 1990 2019-06-14 2019-06-14 101928346 ENSG00000256742 OTTHUMG00000169072 XR_007063495 HGNC:53287 +HGNC:20815 KDM3A lysine demethylase 3A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "TSGA|KIAA0742|JHMD2A" jumonji C domain-containing histone demethylase 2A "JMJD1|JMJD1A" "jumonji domain containing 1|jumonji domain containing 1A|lysine (K)-specific demethylase 3A" Lysine demethylases 485 2003-04-09 2009-04-06 2016-02-12 2016-02-12 55818 ENSG00000115548 OTTHUMG00000130204 uc061lmi.1 AB018285 NM_018433 CCDS1990 Q9Y4C1 9872452 MGI:98847 RGD:708351 611512 objectId:2673 HGNC:20815 "ENST00000312912.10|NM_018433.6" +HGNC:54795 KDM3AP1 KDM3A pseudogene 1 pseudogene pseudogene Approved 2q32.2 02q32.2 2020-01-08 2020-01-08 100420666 ENSG00000233996 NG_023642 +HGNC:1337 KDM3B lysine demethylase 3B protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "KIAA1082|NET22" "C5orf7|JMJD1B" "chromosome 5 open reading frame 7|jumonji domain containing 1B|lysine (K)-specific demethylase 3B" Lysine demethylases 485 2000-07-21 2009-04-06 2016-02-12 2021-11-24 51780 ENSG00000120733 OTTHUMG00000163469 uc003lcy.1 AF251039 NM_016604 CCDS34242 Q7LBC6 "15138608|23593242" MGI:1923356 RGD:1583423 609373 objectId:2674 HGNC:1337 "ENST00000314358.10|NM_016604.4" HGNC:1337 +HGNC:22978 KDM4A lysine demethylase 4A protein-coding gene gene with protein product Approved 1p34.2-p34.1 01p34.2-p34.1 "KIAA0677|JHDM3A|TDRD14A" "jumonji C domain-containing histone demethylase 3A|tudor domain containing 14A" "JMJD2|JMJD2A" "jumonji domain containing 2|jumonji domain containing 2A|lysine (K)-specific demethylase 4A" "Lysine demethylases|Tudor domain containing" "485|780" 2003-08-08 2009-04-06 2016-02-12 2018-02-13 9682 ENSG00000066135 OTTHUMG00000007560 uc001cjx.4 AB014577 NM_014663 CCDS491 O75164 "9734811|15138608" MGI:2446210 RGD:1306378 609764 objectId:2675 HGNC:22978 "ENST00000372396.4|NM_014663.3" +HGNC:40528 KDM4A-AS1 KDM4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2-p34.1 01p34.2-p34.1 KDM4A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2018-02-13 100132774 ENSG00000236200 OTTHUMG00000007557 uc001cjy.6 BC073819 NR_033827 KDM4A-AS1 HGNC:40528 +HGNC:29136 KDM4B lysine demethylase 4B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA0876|TDRD14B" tudor domain containing 14B JMJD2B "jumonji domain containing 2B|lysine (K)-specific demethylase 4B" "Lysine demethylases|Tudor domain containing" "485|780" 2004-01-14 2009-04-06 2016-02-12 2019-08-20 23030 ENSG00000127663 OTTHUMG00000180281 uc002mbq.5 AB020683 NM_015015 CCDS12138 O94953 "10048485|15138608" MGI:2442355 RGD:1588576 609765 objectId:2676 HGNC:29136 "ENST00000159111.9|NM_015015.3" HGNC:29136 +HGNC:17071 KDM4C lysine demethylase 4C protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "GASC1|KIAA0780|TDRD14C" tudor domain containing 14C JMJD2C "jumonji domain containing 2C|lysine (K)-specific demethylase 4C" "Lysine demethylases|Tudor domain containing" "485|780" 2004-01-14 2009-04-06 2016-02-12 2016-10-05 23081 ENSG00000107077 OTTHUMG00000019536 uc003zkh.4 AB018323 NM_015061 "CCDS55286|CCDS6471|CCDS55285|CCDS78379" Q9H3R0 "9872452|15138608" MGI:1924054 RGD:1307528 605469 objectId:2677 HGNC:17071 "ENST00000381309.8|NM_015061.6" +HGNC:25498 KDM4D lysine demethylase 4D protein-coding gene gene with protein product Approved 11q21 11q21 FLJ10251 JMJD2D "jumonji domain containing 2D|lysine (K)-specific demethylase 4D" Lysine demethylases 485 2004-01-14 2009-04-06 2016-02-12 2016-02-12 55693 ENSG00000186280 OTTHUMG00000167838 uc001pfe.4 AK001113 NM_018039 CCDS8302 Q6B0I6 15138608 MGI:3606484 RGD:1591045 609766 objectId:2678 HGNC:25498 "ENST00000335080.6|NM_018039.3" +HGNC:37098 KDM4E lysine demethylase 4E protein-coding gene gene with protein product Approved 11q21 11q21 "JMJD2E|KDM5E" KDM4DL "lysine (K)-specific demethylase 4D-like|lysine (K)-specific demethylase 4E" Lysine demethylases 485 2009-06-12 2012-03-28 2016-02-12 2016-11-04 390245 ENSG00000235268 OTTHUMG00000167858 uc010ruf.1 BC157851 NM_001161630 CCDS44713 B2RXH2 21076780 MGI:3606484 616581 objectId:2679 HGNC:37098 "ENST00000450979.2|NM_001161630.1" +HGNC:52413 KDM4F lysine demethylase 4F other unknown Approved 11q21 11q21 JMJD2F Lysine demethylases 485 2016-11-04 2019-06-26 100129053 ENSG00000255855 OTTHUMG00000167862 NG_012275 15138608 PGOHUM00000291108 HGNC:52413 +HGNC:9886 KDM5A lysine demethylase 5A protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "RBBP2|JARID1A" "retinoblastoma-binding protein 2|Jumonji, AT rich interactive domain 1A (RBBP2-like)|jumonji, AT rich interactive domain 1A|lysine (K)-specific demethylase 5A" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases|EMSY complex" "88|418|485|1243" 1992-09-17 2009-04-06 2016-02-12 2021-05-26 5927 ENSG00000073614 OTTHUMG00000168055 uc001qif.3 NM_005056 CCDS41736 P29375 1857421 MGI:2136980 RGD:1305429 KDM5A 180202 470542 objectId:2680 HGNC:9886 "ENST00000399788.7|NM_001042603.3" +HGNC:18039 KDM5B lysine demethylase 5B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RBBP2H1A|PLU-1|CT31|PPP1R98" "cancer/testis antigen 31|protein phosphatase 1, regulatory subunit 98" JARID1B "Jumonji, AT rich interactive domain 1B (RBP2-like)|jumonji, AT rich interactive domain 1B|lysine (K)-specific demethylase 5B" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases" "88|418|485" 2004-01-28 2009-04-06 2016-02-12 2021-05-26 10765 ENSG00000117139 OTTHUMG00000041401 uc001gyf.4 AJ243706 NM_006618 "CCDS30974|CCDS81417" Q9UGL1 "11483573|11478881" MGI:1922855 RGD:1565602 605393 470544 objectId:2681 HGNC:18039 "ENST00000367265.9|NM_006618.5" HGNC:18039 +HGNC:11114 KDM5C lysine demethylase 5C protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DXS1272E|XE169" "SMCX|JARID1C|MRX13" "Jumonji, AT rich interactive domain 1C (RBP2-like)|Smcy homolog, X-linked (mouse)|jumonji, AT rich interactive domain 1C|mental retardation, X-linked 13|lysine (K)-specific demethylase 5C" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases|MicroRNA protein coding host genes" "88|418|485|1691" 1999-04-23 2009-04-06 2016-02-12 2021-05-26 8242 ENSG00000126012 OTTHUMG00000021606 uc004drz.4 Z29650 NM_004187 "CCDS87747|CCDS55417|CCDS14351|CCDS65269" P41229 "7951230|8162017|19826449" MGI:99781 RGD:1560601 KDM5C database at LOVD|http://www.LOVD.nl/KDM5C KDM5C 314690 122732 objectId:2682 HGNC:11114 "ENST00000375401.8|NM_004187.5" HGNC:11114 +HGNC:41384 KDM5C-IT1 KDM5C intronic transcript 1 non-coding RNA RNA, long non-coding Approved Xp11.22 Xp11.22 KDM5C intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-23 2015-02-25 2015-02-25 100874299 ENSG00000235262 OTTHUMG00000021604 uc064zkj.1 KDM5C-IT1 +HGNC:11115 KDM5D lysine demethylase 5D protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 KIAA0234 "HYA|HY|SMCY|JARID1D" "Jumonji, AT rich interactive domain 1D (RBP2-like)|Smcy homolog, Y-linked (mouse)|jumonji, AT rich interactive domain 1D|lysine (K)-specific demethylase 5D" "PHD finger proteins|AT-rich interaction domain containing|Lysine demethylases|Minor histocompatibility antigens" "88|418|485|870" 1999-04-23 2009-04-06 2016-02-12 2016-10-05 8284 ENSG00000012817 OTTHUMG00000036508 uc011naz.3 U52191 NM_004653 "CCDS55554|CCDS14794|CCDS55555" Q9BY66 "795123|8841177" MGI:99780 RGD:2314436 426000 objectId:2683 HGNC:11115 "ENST00000317961.9|NM_004653.5" +HGNC:23976 KDM5DP1 lysine demethylase 5D pseudogene 1 pseudogene pseudogene Approved Yq11.223 Yq11.223 SMCYP Smcy homolog, Y chromosome (mouse) pseudogene lysine (K)-specific demethylase 5D pseudogene 1 2009-12-17 2016-02-12 2016-10-11 359796 ENSG00000277438 OTTHUMG00000188101 NG_002818 12815422 PGOHUM00000233789 HGNC:23976 +HGNC:12637 KDM6A lysine demethylase 6A protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 UTX "ubiquitously transcribed tetratricopeptide repeat, X chromosome|lysine (K)-specific demethylase 6A" "Lysine demethylases|Tetratricopeptide repeat domain containing" "485|769" 1998-08-05 2009-04-17 2016-02-12 2021-05-26 7403 ENSG00000147050 OTTHUMG00000021402 uc004dge.5 AF000992 NM_021140 CCDS14265 O15550 "9499428|9381176" MGI:1095419 RGD:9275041 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UTX|LRG_616|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_616.xml" KDM6A 300128 290568 objectId:2684 HGNC:12637 "ENST00000611820.5|NM_001291415.2" HGNC:12637 +HGNC:29012 KDM6B lysine demethylase 6B protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KIAA0346 JMJD3 "jumonji domain containing 3|jumonji domain containing 3, histone lysine demethylase|lysine (K)-specific demethylase 6B" Lysine demethylases 485 2004-02-27 2009-04-17 2016-02-12 2021-05-26 23135 ENSG00000132510 OTTHUMG00000178021 uc002giw.2 AB002344 NM_001080424 "CCDS86569|CCDS32552" O15054 "10662545|9205841" MGI:2448492 RGD:1307629 611577 objectId:2685 HGNC:29012 "ENST00000448097.7|NM_001348716.2" HGNC:29012 +HGNC:22224 KDM7A lysine demethylase 7A protein-coding gene gene with protein product Approved 7q34 07q34 KIAA1718 JHDM1D "jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae)|lysine (K)-specific demethylase 7A" "PHD finger proteins|Lysine demethylases" "88|485" 2007-03-26 2013-11-04 2016-02-12 2016-02-12 80853 ENSG00000006459 OTTHUMG00000157327 NM_030647 CCDS43658 Q6ZMT4 "20023638|20084082" MGI:2443388 RGD:1592650 619640 objectId:2686 HGNC:22224 "ENST00000397560.7|NM_030647.2" +HGNC:48959 KDM7A-DT KDM7A divergent transcript non-coding RNA RNA, long non-coding Approved 7q34 07q34 JHDM1D-AS1 JHDM1D antisense RNA 1 (head to head) Divergent transcripts 1990 2013-07-23 2018-03-23 2018-03-23 2019-07-11 100134229 ENSG00000260231 OTTHUMG00000173155 NR_024451 31276733 JHDM1D-AS1 HGNC:48959 +HGNC:25840 KDM8 lysine demethylase 8 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 FLJ13798 JmjC arginyl-hydroxylase JMJD5 "jumonji domain containing 5|lysine (K)-specific demethylase 8" Lysine demethylases 485 2006-02-17 2012-03-28 2016-02-12 2019-03-19 79831 ENSG00000155666 OTTHUMG00000131677 uc002doh.3 AK023860 NM_024773 "CCDS10627|CCDS45448" Q8N371 "20457893|29563586" MGI:1924285 RGD:1304823 611917 objectId:2687 HGNC:25840 "ENST00000286096.9|NM_024773.3" +HGNC:6307 KDR kinase insert domain receptor protein-coding gene gene with protein product Approved 4q12 04q12 "FLK1|VEGFR|VEGFR2|CD309" "vascular endothelial growth factor receptor 2|fetal liver kinase 1" kinase insert domain receptor (a type III receptor tyrosine kinase) "Receptor tyrosine kinases|CD molecules|V-set domain containing|I-set domain containing" "321|471|590|593" 1991-07-10 2014-12-19 2021-04-13 3791 ENSG00000128052 OTTHUMG00000128734 uc003has.4 AF035121 NM_002253 CCDS3497 P35968 1417831 MGI:96683 RGD:2965 "The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=KDR|LRG_1198|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1198.xml" KDR 191306 229801 objectId:1813 CD309 2.7.10.1 HGNC:6307 "ENST00000263923.5|NM_002253.4" HGNC:6307 +HGNC:4021 KDSR 3-ketodihydrosphingosine reductase protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "DHSR|SDR35C1" "3-dehydrosphinganine reductase|short chain dehydrogenase/reductase family 35C, member 1" FVT1 follicular lymphoma variant translocation 1 Short chain dehydrogenase/reductase superfamily 743 1993-12-10 2008-02-20 2008-02-20 2021-05-26 2531 ENSG00000119537 OTTHUMG00000132792 uc010dpw.4 NM_002035 CCDS11982 Q06136 "8417785|15328338|17420465|19027726" MGI:1918000 RGD:1307775 LRG_1196|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1196.xml KDSR 136440 objectId:2463 1.1.1.102 HGNC:4021 "ENST00000645214.2|NM_002035.4" HGNC:4021 +HGNC:55299 KDSR-DT KDSR divergent transcript non-coding RNA RNA, long non-coding Approved 18q21.33 18q21.33 Divergent transcripts 1990 2020-10-15 2020-10-15 118827811 ENSG00000267390 +HGNC:23177 KEAP1 kelch like ECH associated protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "KIAA0132|MGC10630|MGC1114|MGC20887|MGC4407|MGC9454|INrf2|KLHL19" kelch-like family member 19 "Kelch like|BTB domain containing" "617|861" 2003-09-30 2015-11-23 2019-08-21 9817 ENSG00000079999 OTTHUMG00000180579 uc002mor.2 AF361886 NM_012289 CCDS12239 Q14145 MGI:1858732 RGD:621619 KEAP1 606016 objectId:2757 HGNC:23177 "ENST00000171111.10|NM_203500.2" HGNC:23177 +HGNC:6308 KEL Kell metallo-endopeptidase (Kell blood group) protein-coding gene gene with protein product Approved 7q34 07q34 "ECE3|CD238" "Kell blood group|Kell blood group, metalloendopeptidase" "Blood group antigens|CD molecules|M13 metallopeptidases" "454|471|1439" 2001-06-22 2018-04-23 2021-04-13 3792 ENSG00000197993 OTTHUMG00000157159 uc003wcb.4 BC003135 NM_000420 CCDS34766 P23276 "1712490|7683930" MGI:1346053 RGD:1565470 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_799|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_799.xml" 613883 M13.090 CD238 3.4.24.- HGNC:6308 "ENST00000355265.7|NM_000420.3" +HGNC:6309 KERA keratocan protein-coding gene gene with protein product Approved 12q21.33 12q21.33 SLRR2B keratocan proteoglycan CNA2 Small leucine rich repeat proteoglycans 573 1999-08-26 2021-05-26 11081 ENSG00000139330 OTTHUMG00000170073 uc001tbl.4 AF063301 NM_007035 CCDS9037 O60938 "10565548|10802664" MGI:1202398 RGD:1305816 LRG_538|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_538.xml 603288 122825 HGNC:6309 "ENST00000266719.4|NM_007035.4" HGNC:6309 +HGNC:21366 KHDC1 KH domain containing 1 protein-coding gene gene with protein product Approved 6q13 06q13 "MGC10818|bA257K9.4|NDG1|Em:AC019205.8" "C6orf148|C6orf147" "chromosome 6 open reading frame 148|chromosome 6 open reading frame 147|KH homology domain containing 1" 2003-07-08 2007-11-13 2017-07-20 2017-07-20 80759 ENSG00000135314 OTTHUMG00000015030 uc003pgn.5 NM_030568 "CCDS59027|CCDS43480" Q4VXA5 17913455 "MGI:2676610|MGI:2138477|MGI:3583007" RGD:1597396 611688 HGNC:21366 +HGNC:55468 KHDC1-AS1 KHDC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 lnc-KHDC3L-2 Antisense RNAs 1987 2021-03-11 2022-03-25 120766141 ENSG00000229852 32718982 +HGNC:37274 KHDC1L KH domain containing 1 like protein-coding gene gene with protein product Approved 6q13 06q13 RP11-257K9.7 2009-10-02 2016-06-13 2016-06-13 100129128 ENSG00000256980 OTTHUMG00000132474 uc003pgm.5 BC004267 NM_001126063 CCDS47450 Q5JSQ8 "MGI:2676610|MGI:2138477|MGI:3583007" HGNC:37274 "ENST00000370388.4|NM_001126063.3" +HGNC:43757 KHDC1P1 KH domain containing 1 pseudogene 1 pseudogene pseudogene Approved 6q13 06q13 KH homology domain containing 1 pseudogene 1 2012-02-22 2017-07-20 2017-07-20 653194 ENSG00000251360 OTTHUMG00000132475 17913455 HGNC:43757 +HGNC:33699 KHDC3L KH domain containing 3 like, subcortical maternal complex member protein-coding gene gene with protein product Approved 6q13 06q13 ECAT1 ES cell associated transcript 1 C6orf221 "chromosome 6 open reading frame 221|KH domain containing 3-like, subcortical maternal complex member" Subcortical maternal complex 1684 2007-11-15 2012-06-25 2016-02-25 2020-07-15 154288 ENSG00000203908 OTTHUMG00000015024 uc003pgt.5 AB211062 NM_001017361 CCDS34484 Q587J8 "21885028|23125094" MGI:1914241 RGD:1311617 611687 287584 HGNC:33699 "ENST00000370367.4|NM_001017361.3" HGNC:33699 +HGNC:29145 KHDC4 KH domain containing 4, pre-mRNA splicing factor protein-coding gene gene with protein product Approved 1q22 01q22 "BLOM7|SNORA80EHG" KIAA0907 KIAA0907 Small nucleolar RNA protein coding host genes 1835 2005-07-14 2017-09-20 2017-09-20 2017-12-01 22889 ENSG00000132680 OTTHUMG00000014103 uc001fmi.2 BC062637 NM_014949 CCDS30885 Q7Z7F0 "19641227|21986946|23144703" MGI:1921450 RGD:1565775 619370 HGNC:29145 "ENST00000368321.8|NM_014949.4" +HGNC:18116 KHDRBS1 KH RNA binding domain containing, signal transduction associated 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "Sam68|p62|FLJ34027" "GAP-associated tyrosine phosphoprotein p62|Src-associated in mitosis 68 kDa protein" Signal transduction and activation of RNA metabolism family 1275 2002-02-28 2016-05-23 2016-10-05 10657 ENSG00000121774 OTTHUMG00000003921 uc001bub.5 U78971 NM_006559 "CCDS350|CCDS60067" Q07666 "1374686|10564820" MGI:893579 RGD:621459 602489 HGNC:18116 "ENST00000327300.12|NM_006559.3" +HGNC:18114 KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 protein-coding gene gene with protein product Approved 6q11.1 06q11.1 "SLM1|SLM-1|MGC26664" Sam68-like mammalian protein 1 Signal transduction and activation of RNA metabolism family 1275 2002-02-28 2016-05-23 2016-05-23 202559 ENSG00000112232 OTTHUMG00000014936 uc003peg.3 BC034043 NM_152688 CCDS4963 Q5VWX1 MGI:2159649 RGD:621738 610487 HGNC:18114 "ENST00000281156.5|NM_152688.4" +HGNC:53911 KHDRBS2-OT1 KHDRBS2 3'UTR overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 6q11.1 06q11.1 KHDRBS2-OT Overlapping transcripts 1988 2018-05-24 2019-12-13 2019-12-13 112577463 ENSG00000250686 OTTHUMG00000014935 +HGNC:18117 KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 protein-coding gene gene with protein product Approved 8q24.23 08q24.23 "T-STAR|Etle|etoile|SALP|SLM2|SLM-2" KH domain containing, RNA binding, signal transduction associated 3 Signal transduction and activation of RNA metabolism family 1275 2002-02-28 2016-05-23 2016-05-23 10656 ENSG00000131773 OTTHUMG00000164164 uc003yuv.4 AF069681 NM_006558 CCDS6374 O75525 "10332027|10564820" MGI:1313312 RGD:620921 610421 HGNC:18117 "ENST00000355849.10|NM_006558.3" +HGNC:6315 KHK ketohexokinase protein-coding gene gene with protein product Approved 2p23.3 02p23.3 fructokinase ketohexokinase (fructokinase) 1994-12-19 2015-11-05 2015-11-05 3795 ENSG00000138030 OTTHUMG00000097077 uc002rim.3 NM_000221 "CCDS1735|CCDS1734" P50053 7833921 MGI:1096353 RGD:2966 614058 122829 2.7.1.3 HGNC:6315 "ENST00000260598.10|NM_006488.3" HGNC:6315 +HGNC:20166 KHNYN KH and NYN domain containing protein-coding gene gene with protein product Approved 14q12 14q12 KIAA0323 KIAA0323 2003-11-21 2009-10-14 2009-10-14 2016-10-11 23351 ENSG00000100441 OTTHUMG00000171312 uc010tpc.3 AB002321 NM_001290256 CCDS32058 O15037 17114934 MGI:2451333 RGD:1565688 619579 HGNC:20166 "ENST00000553935.6|NM_015299.3" +HGNC:6316 KHSRP KH-type splicing regulatory protein protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KSRP|FBP2|FUBP2" FUSE binding protein 2 MicroRNA protein coding host genes 1691 1998-11-17 2008-02-04 2014-11-19 8570 ENSG00000088247 OTTHUMG00000180850 uc002mer.5 U94832 NM_001366299 CCDS45936 Q92945 "9136930|8940189" MGI:1336214 RGD:621828 603445 HGNC:6316 "ENST00000600480.2|NM_001366299.1" +HGNC:39198 KHSRPP1 KH-type splicing regulatory protein pseudogene 1 pseudogene pseudogene Approved 9p21.3 09p21.3 2010-11-23 2012-10-16 402359 ENSG00000229835 OTTHUMG00000019683 NG_006557 PGOHUM00000263229 HGNC:39198 +HGNC:28950 KIAA0040 KIAA0040 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 2005-03-17 2016-09-30 9674 ENSG00000235750 OTTHUMG00000034880 uc001gko.4 D25539 NM_014656 CCDS86034 Q15053 24829844 MGI:1914897 RGD:2311260 616696 HGNC:28950 "ENST00000423313.6|NM_014656.3" +HGNC:22191 KIAA0087 KIAA0087 lncRNA non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 KIAA0087 Long non-coding RNAs with non-systematic symbols 1992 2007-07-23 2016-12-21 2016-12-21 9808 ENSG00000122548 OTTHUMG00000023321 uc003sya.3 BC128257 NR_022006 Q14695 27748922 HGNC:22191 +HGNC:28960 KIAA0100 KIAA0100 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "DKFZp686M0843|MGC111488|BCOX1|CT101|BCOX|FMP27|Hob" "cancer/testis antigen 101|breast cancer overexpressed gene 1" 2005-11-22 2022-03-31 9703 ENSG00000007202 OTTHUMG00000166587 uc002hbu.4 D43947 NM_014680 "CCDS32595|CCDS86585" Q14667 "16289875|29867023" MGI:1919753 RGD:1307929 610664 HGNC:28960 "ENST00000528896.7|NM_014680.5" +HGNC:28992 KIAA0232 KIAA0232 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2007-07-23 2018-06-15 9778 ENSG00000170871 OTTHUMG00000160072 uc003gjq.5 D86985 NM_014743 CCDS43209 Q92628 9039502 MGI:1261849 RGD:1596848 619237 HGNC:28992 "ENST00000307659.6|NM_014743.3" +HGNC:21580 KIAA0319 KIAA0319 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 NMIG neuronal migration 2003-11-21 2022-02-03 9856 ENSG00000137261 OTTHUMG00000014358 uc003neh.2 AB002317 NM_014809 "CCDS54969|CCDS54971|CCDS75409|CCDS34348|CCDS54970" Q5VV43 "15514892|28334068|29045729|35031635" MGI:3036268 RGD:1307443 609269 HGNC:21580 "ENST00000378214.8|NM_014809.4" +HGNC:30071 KIAA0319L KIAA0319 like protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "KIAA1837|AAVR" AAV receptor KIAA0319-like 2005-04-01 2016-01-21 2022-01-31 79932 ENSG00000142687 OTTHUMG00000004370 uc001byx.4 AY163234 NM_024874 CCDS390 Q8IZA0 "11347906|26814968|29991750" MGI:2140475 RGD:2306719 613535 364825 HGNC:30071 "ENST00000325722.8|NM_024874.5" +HGNC:21636 KIAA0408 KIAA0408 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 2003-11-21 2017-12-01 9729 ENSG00000189367 OTTHUMG00000166439 uc011ebs.3 AB007868 NM_014702 CCDS34531 Q6ZU52 MGI:3036239 RGD:1307525 619236 HGNC:21636 "ENST00000483725.8|NM_014702.5" +HGNC:29058 KIAA0513 KIAA0513 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 2004-08-13 2016-09-30 9764 ENSG00000135709 OTTHUMG00000176597 uc010voj.4 AB011085 NM_014732 "CCDS73919|CCDS67091|CCDS32499" O60268 17010949 MGI:2443793 RGD:1304884 611675 HGNC:29058 "ENST00000683363.1|NM_001388359.1" +HGNC:19960 KIAA0586 KIAA0586 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "Talpid3|JBTS23" 2003-11-21 2021-10-15 9786 ENSG00000100578 OTTHUMG00000171141 uc001xdv.5 AB011158 NM_014749 "CCDS45115|CCDS73639|CCDS58322|CCDS58321|CCDS58320" Q9BVV6 "16702409|26026149|26096313|26386247|27146717|29396404" MGI:1924217 RGD:1585176 LRG_1096|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1096.xml 610178 435787 HGNC:19960 "ENST00000652326.2|NM_001329943.3" HGNC:19960 +HGNC:29110 KIAA0753 KIAA0753 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "OFIP|MNR" "moonraker|OFD1 and FOR20 interacting protein" 2005-12-13 2022-01-28 9851 ENSG00000198920 OTTHUMG00000177928 uc002gde.5 NM_014804 "CCDS42247|CCDS86564" Q2KHM9 "24613305|26643951|26297806" MGI:1921727 RGD:1304728 617112 476149 HGNC:29110 "ENST00000361413.8|NM_014804.3" HGNC:29110 +HGNC:28532 KIAA0825 KIAA0825 protein-coding gene gene with protein product Approved 5q15 05q15 "DKFZp686F0372|MGC34713" C5orf36 chromosome 5 open reading frame 36 Armadillo like helical domain containing 1492 2006-11-03 2011-02-23 2011-02-23 2016-09-30 285600 ENSG00000185261 OTTHUMG00000131331 uc003kkp.3 BX648338 NM_173665 CCDS4070 Q8IV33 27381092 MGI:1919621 RGD:1560883 617266 HGNC:28532 "ENST00000682413.1|NM_001145678.3" HGNC:28532 +HGNC:22206 KIAA0895 KIAA0895 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 2008-11-27 2016-09-30 23366 ENSG00000164542 OTTHUMG00000154939 uc011kax.2 BC028678 NM_015314 "CCDS47573|CCDS75583|CCDS56483|CCDS56484|CCDS56482|CCDS43570" Q8NCT3 MGI:1915533 RGD:1561444 HGNC:22206 "ENST00000440378.6|NM_001199706.2" +HGNC:34408 KIAA0895L KIAA0895 like protein-coding gene gene with protein product Approved 16q22.1 16q22.1 LOC653319 2008-11-27 2016-06-13 2020-01-06 653319 ENSG00000196123 OTTHUMG00000172891 uc059vqc.1 AK092303 NM_001040715 CCDS42177 Q68EN5 MGI:1921606 RGD:1585272 HGNC:34408 "ENST00000563902.2|NM_001040715.2" +HGNC:53865 KIAA0895LP1 KIAA00895L pseudogene 1 pseudogene pseudogene Approved 18p11.22 18p11.22 2018-04-30 2018-04-30 100128238 ENSG00000264714 OTTHUMG00000178481 NG_022486 PGOHUM00000294719 HGNC:53865 +HGNC:1314 KIAA0930 KIAA0930 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 bK268H5.C22.1 C22orf9 chromosome 22 open reading frame 9 MicroRNA protein coding host genes 1691 2000-03-29 2011-02-23 2011-02-23 2020-09-17 23313 ENSG00000100364 OTTHUMG00000151263 uc003bfx.2 AK025608 NM_001009880 "CCDS33665|CCDS33666" Q6ICG6 10231032 MGI:2444899 RGD:1304694 619709 HGNC:1314 "ENST00000336156.10|NM_001009880.2" +HGNC:29192 KIAA1107 KIAA1107 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 APache AP2-interacting clathrin-endocytosis protein 2005-05-16 2019-07-16 23285 ENSG00000069712 OTTHUMG00000010292 uc010otd.2 AB029030 NM_015237 CCDS44172 Q9UPP5 "10470851|29262337" MGI:2445097 HGNC:29192 +HGNC:26953 KIAA1109 KIAA1109 protein-coding gene gene with protein product Approved 4q27 04q27 "FLJ21404|FSA|KIAA1371|Tweek" fragile site-associated 2004-07-29 2022-03-31 84162 ENSG00000138688 OTTHUMG00000150116 uc062zjm.1 AL137384 NM_020797 CCDS43267 Q2LD37 "16386706|19640479|29290337|35015055" MGI:2444631 RGD:1307100 611565 470546 HGNC:26953 "ENST00000679879.1|NM_001384125.1" HGNC:26953 +HGNC:29198 KIAA1143 KIAA1143 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 2005-03-04 2016-09-30 57456 ENSG00000163807 OTTHUMG00000133088 uc011bac.3 AB032969 NM_020696 CCDS2721 Q96AT1 10574461 MGI:1913452 RGD:1311745 HGNC:29198 "ENST00000296121.6|NM_020696.4" +HGNC:54591 KIAA1143P1 KIAA1143 pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 2019-10-17 2019-10-17 644295 ENSG00000259086 OTTHUMG00000170591 NG_005558 +HGNC:54594 KIAA1143P2 KIAA1143 pseudogene 2 pseudogene pseudogene Approved 3p24.1 03p24.1 2019-10-17 2019-10-17 107986034 ENSG00000232766 OTTHUMG00000155632 PGOHUM00000298977 +HGNC:29209 KIAA1191 KIAA1191 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "FLJ21022|p33MONOX|p60MONOX" p60MONOX brain-derived rescue factor 2006-01-31 2022-02-17 57179 ENSG00000122203 OTTHUMG00000130656 uc003mdw.5 BC010448 NM_020444 "CCDS4399|CCDS75373|CCDS43402" Q96A73 "21153684|34989828" MGI:1921162 RGD:1359256 HGNC:29209 "ENST00000298569.9|NM_020444.5" +HGNC:29218 KIAA1210 KIAA1210 protein-coding gene gene with protein product Approved Xq24 Xq24 2008-10-30 2021-06-21 57481 ENSG00000250423 OTTHUMG00000162980 uc004era.4 AB033036 NM_020721 CCDS48156 Q9ULL0 "10574462|28203736|31995159" MGI:3705243 RGD:1561445 300995 HGNC:29218 "ENST00000691062.1|NM_001394962.1" +HGNC:25428 KIAA1217 KIAA1217 protein-coding gene gene with protein product Approved 10p12.2-p12.1 10p12.2-p12.1 "DKFZP761L0424|SKT|ETL4" sickle tail MicroRNA protein coding host genes 1691 2004-02-04 2021-07-16 56243 ENSG00000120549 OTTHUMG00000017824 uc001iru.6 BX640796 NM_019590 "CCDS41496|CCDS31165|CCDS60504|CCDS60505|CCDS60502|CCDS60501" Q5T5P2 "10574462|27150058|32369272" MGI:95454 RGD:1563437 617367 HGNC:25428 "ENST00000376454.8|NM_019590.5" +HGNC:29248 KIAA1328 KIAA1328 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 hinderin 2005-01-11 2021-07-16 57536 ENSG00000150477 OTTHUMG00000178087 uc002kzz.4 AB037749 NM_020776 CCDS45855 Q86T90 15656913 MGI:2147376 RGD:1562608 616480 HGNC:29248 "ENST00000280020.10|NM_020776.3" +HGNC:29301 KIAA1522 KIAA1522 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 2005-06-03 2017-04-06 57648 ENSG00000162522 OTTHUMG00000008088 uc001bvu.2 AL713671 NM_001198972 "CCDS55588|CCDS55589|CCDS41298" Q9P206 "10819331|27098511" MGI:2140651 RGD:1561149 HGNC:29301 "ENST00000401073.7|NM_020888.3" +HGNC:22219 KIAA1549 KIAA1549 protein-coding gene gene with protein product Approved 7q34 07q34 2008-04-22 2021-06-14 57670 ENSG00000122778 OTTHUMG00000157214 uc011kqj.3 NM_001164665 "CCDS47723|CCDS56513" Q9HCM3 "30120214|34027671" MGI:2669829 RGD:1306271 613344 353524 HGNC:22219 "ENST00000422774.2|NM_001164665.2" HGNC:22219 +HGNC:24836 KIAA1549L KIAA1549 like protein-coding gene gene with protein product Approved 11p13 11p13 "G2|MGC34830" "C11orf69|C11orf41" "chromosome 11 open reading frame 69|chromosome 11 open reading frame 41" 2005-10-04 2012-08-09 2016-06-13 2016-10-17 25758 ENSG00000110427 OTTHUMG00000150410 uc021qfs.2 U10991 NM_012194 CCDS44565 Q6ZVL6 26157485 MGI:2181743 RGD:2323964 612297 470548 HGNC:24836 "ENST00000658780.2|NM_012194.3" +HGNC:21360 KIAA1586 KIAA1586 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 2003-11-21 2018-03-23 57691 ENSG00000168116 OTTHUMG00000014915 uc003pdj.5 AB046806 NM_020931 "CCDS34480|CCDS69138" Q9HCI6 "10997877|26524493" HGNC:21360 "ENST00000370733.5|NM_020931.4" +HGNC:29327 KIAA1614 KIAA1614 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 2005-05-24 2018-11-16 57710 ENSG00000135835 OTTHUMG00000035183 uc001gok.3 AB046834 NM_020950 CCDS41442 Q5VZ46 MGI:2672904 RGD:1304622 HGNC:29327 "ENST00000367588.9|NM_020950.2" +HGNC:50644 KIAA1614-AS1 KIAA1614 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 RP11-46A10.4 Antisense RNAs 1987 2014-06-03 2014-06-17 103344928 ENSG00000232586 OTTHUMG00000035173 AK026359 NR_145481 24886442 KIAA1614-AS1 HGNC:50644 +HGNC:29345 KIAA1671 KIAA1671 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 2009-07-09 2017-11-13 85379 ENSG00000197077 OTTHUMG00000150841 uc062clx.1 NM_001145206 CCDS46676 Q9BY89 "15289310|27037360" MGI:1920194 RGD:1306556 HGNC:29345 "ENST00000358431.8|NM_001145206.2" +HGNC:41238 KIAA1671-AS1 KIAA1671 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 Antisense RNAs 1987 2019-08-15 2019-08-15 100128531 ENSG00000203280 OTTHUMG00000150908 NR_038941 HGNC:41238 +HGNC:29372 KIAA1755 KIAA1755 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 RP5-1054A22.3 2007-12-07 2017-11-13 85449 ENSG00000149633 OTTHUMG00000032436 uc002xhy.2 AB051542 NM_001029864 CCDS33467 Q5JYT7 11214970 MGI:3606579 RGD:1563354 HGNC:29372 "ENST00000279024.9|NM_001029864.2" +HGNC:23427 KIAA1958 KIAA1958 protein-coding gene gene with protein product Approved 9q32 09q32 FLJ39294 2003-11-18 2017-04-19 158405 ENSG00000165185 OTTHUMG00000020508 uc064vco.1 AB075838 NM_133465 "CCDS35108|CCDS69642" Q8N8K9 22011512 MGI:2442164 RGD:1310951 617390 HGNC:23427 "ENST00000337530.11|NM_133465.4" +HGNC:51250 KIAA2012 KIAA2012 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 2014-09-17 2016-10-11 100652824 ENSG00000182329 OTTHUMG00000154580 NM_001277372 CCDS74631 Q0VF49 MGI:2685819 RGD:1562029 HGNC:51250 "ENST00000498697.3|NM_001277372.4" +HGNC:41164 KIAA2012-AS1 KIAA2012 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 Antisense RNAs 1987 2018-09-26 2018-09-26 729224 ENSG00000222035 OTTHUMG00000154578 NR_135244 HGNC:41164 +HGNC:28513 KIAA2013 KIAA2013 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "MGC33867|RP5-1077B9.1" 2005-07-13 2018-02-12 90231 ENSG00000116685 OTTHUMG00000002391 uc001atk.4 AB095933 NM_138346 CCDS141 Q8IYS2 12477932 MGI:1924284 RGD:1305350 HGNC:28513 "ENST00000376572.8|NM_138346.3" +HGNC:23378 KIAA2026 KIAA2026 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 FLJ20375 2003-11-21 2016-09-30 158358 ENSG00000183354 OTTHUMG00000019507 uc003zjq.5 AB095946 NM_001017969 Q5HYC2 MGI:2444398 RGD:1311595 HGNC:23378 "ENST00000399933.8|NM_001017969.3" +HGNC:26517 KICS2 KICSTOR subunit 2 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 FLJ32549 C12orf66 chromosome 12 open reading frame 66 KICSTOR complex 1393 2008-06-19 2021-02-08 2021-02-08 2021-02-24 144577 ENSG00000174206 OTTHUMG00000168763 uc001srw.5 NM_152440 "CCDS41803|CCDS73490|CCDS76574" Q96MD2 28199306 MGI:2670984 RGD:1565498 617420 HGNC:26517 "ENST00000398055.8|NM_152440.5" +HGNC:29508 KIDINS220 kinase D interacting substrate 220 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 ARMS ankyrin repeat-rich membrane-spanning protein kinase D-interacting substrate 220kDa Ankyrin repeat domain containing 403 2008-11-25 2016-11-23 2016-11-23 57498 ENSG00000134313 OTTHUMG00000151658 uc002qzc.2 AK025528 NM_020738 "CCDS86819|CCDS42650|CCDS86818" Q9ULH0 "10998417|10574462" MGI:1924730 RGD:619949 615759 470550 HGNC:29508 "ENST00000256707.8|NM_020738.4" HGNC:29508 +HGNC:888 KIF1A kinesin family member 1A protein-coding gene gene with protein product Approved 2q37.3 02q37.3 UNC104 "ATSV|C2orf20|SPG30" "axonal transport of synaptic vesicles|chromosome 2 open reading frame 20|spastic paraplegia 30 (autosomal recessive)" "Kinesins|Pleckstrin homology domain containing" "622|682" 1995-12-18 2004-01-14 2004-01-09 2021-05-26 547 ENSG00000130294 OTTHUMG00000151940 uc031rsb.2 AF004425 NM_138483 "CCDS58757|CCDS46561" Q12756 "7539720|10323250|22258533" MGI:108391 RGD:1304996 LRG_367|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_367.xml 601255 279771 HGNC:888 "ENST00000498729.9|NM_001244008.2" HGNC:888 +HGNC:16636 KIF1B kinesin family member 1B protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "KIAA0591|KLP|HMSNII" Charcot-Marie-Tooth neuropathy type II "CMT2A|CMT2" "Kinesins|Pleckstrin homology domain containing|MicroRNA protein coding host genes" "622|682|1691" 2001-11-14 2021-10-13 23095 ENSG00000054523 OTTHUMG00000001817 uc001aqw.5 AF257176 NM_001365951 "CCDS111|CCDS112" O60333 "11389829|10762626|7528108" MGI:108426 RGD:621520 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_252|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_252.xml" 605995 122840 HGNC:16636 "ENST00000676179.1|NM_001365951.3" HGNC:16636 +HGNC:6317 KIF1C kinesin family member 1C protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "SPAX2|SPG58" SAX2 spastic ataxia 2 (autosomal recessive) Kinesins 622 1998-09-25 2021-05-26 10749 ENSG00000129250 OTTHUMG00000099451 uc002gan.3 U91329 NM_006612 CCDS11065 O43896 "9685376|24319291|24482476" MGI:1098260 RGD:70928 603060 398212 HGNC:6317 "ENST00000320785.10|NM_006612.6" HGNC:6317 +HGNC:40324 KIF1C-AS1 KIF1C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Antisense RNAs 1987 2019-08-15 2019-08-15 102724009 ENSG00000227495 OTTHUMG00000132924 NR_120665 HGNC:40324 +HGNC:6318 KIF2A kinesin family member 2A protein-coding gene gene with protein product Approved 5q12.1 05q12.1 HK2 KIF2 kinesin heavy chain member 2 Kinesins 622 1997-05-09 2006-09-26 2016-06-13 2021-05-26 3796 ENSG00000068796 OTTHUMG00000097755 uc003jsy.5 BC031828 NM_004520 "CCDS47216|CCDS3980" O00139 9177777 MGI:108390 RGD:70974 602591 470556 HGNC:6318 "ENST00000407818.8|NM_001098511.3" HGNC:6318 +HGNC:29443 KIF2B kinesin family member 2B protein-coding gene gene with protein product Approved 17q22 17q22 Kinesins 622 2005-02-07 2021-10-14 84643 ENSG00000141200 OTTHUMG00000177756 uc002iua.3 AF333335 NM_032559 CCDS32685 Q8N4N8 "11416179|17538014" MGI:1920720 RGD:1359248 615142 HGNC:29443 "ENST00000268919.6|NM_032559.5" +HGNC:6393 KIF2C kinesin family member 2C protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "MCAK|CT139" KNSL6 kinesin-like 6 (mitotic centromere-associated kinesin) "Kinesins|Small nucleolar RNA protein coding host genes" "622|1835" 1999-09-07 2003-01-17 2003-01-13 2021-10-14 11004 ENSG00000142945 OTTHUMG00000008416 uc001cmg.5 U63743 NM_006845 "CCDS72774|CCDS512" Q99661 9434124 MGI:1921054 RGD:620239 604538 HGNC:6393 "ENST00000372224.9|NM_006845.4" +HGNC:6319 KIF3A kinesin family member 3A protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "FLA10|KLP-20" kinesin family protein 3A Kinesins 622 1999-09-07 2021-10-14 11127 ENSG00000131437 OTTHUMG00000059725 uc003kxo.4 AF041853 NM_007054 "CCDS34235|CCDS75296|CCDS75295" Q9Y496 7515068 MGI:107689 RGD:621536 604683 470558 HGNC:6319 "ENST00000403231.6|NM_001300791.2" +HGNC:52811 KIF3AP1 kinesin family member 3A pseudogene 1 pseudogene pseudogene Approved 3q29 03q29 2016-12-12 2016-12-12 100419880 ENSG00000235836 OTTHUMG00000155826 NG_025778 PGOHUM00000299707 HGNC:52811 +HGNC:6320 KIF3B kinesin family member 3B protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "KIAA0359|FLA8|KLP-11" Kinesins 622 1999-07-06 2021-10-13 9371 ENSG00000101350 OTTHUMG00000032214 uc002wxq.4 AB002357 NM_004798 CCDS13200 O15066 "9205841|32386558" MGI:107688 RGD:1306815 603754 470560 HGNC:6320 "ENST00000375712.4|NM_004798.4" HGNC:6320 +HGNC:6321 KIF3C kinesin family member 3C protein-coding gene gene with protein product Approved 2p23.3 02p23.3 Kinesins 622 1997-11-03 2021-10-14 3797 ENSG00000084731 OTTHUMG00000094797 uc002rgu.3 NM_002254 CCDS1719 O14782 9480755 MGI:107979 RGD:621538 602845 HGNC:6321 "ENST00000264712.8|NM_002254.8" +HGNC:13339 KIF4A kinesin family member 4A protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "KIF4-G1|KIF4|HSA271784|FLJ12530|FLJ12655|FLJ14204|FLJ20631|MRX100" chromokinesin Kinesins 622 2000-09-19 2021-05-26 24137 ENSG00000090889 OTTHUMG00000021775 uc004dyg.4 AF179308 NM_012310 CCDS14401 O95239 10773663 MGI:108389 RGD:620526 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KIF4A 300521 470562 HGNC:13339 "ENST00000374403.4|NM_012310.5" HGNC:13339 +HGNC:6322 KIF4B kinesin family member 4B protein-coding gene gene with protein product Approved 5q33.2 05q33.2 Kinesins 622 2000-08-31 2015-09-01 285643 ENSG00000226650 OTTHUMG00000164143 uc010jih.2 AF241316 NM_001099293 CCDS47324 Q2VIQ3 MGI:108389 609184 HGNC:6322 "ENST00000435029.6|NM_001099293.3" +HGNC:13340 KIF4CP kinesin family member 4C, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 KIF4P1 Kinesins 622 2006-02-10 2015-03-12 2015-03-12 347363 ENSG00000225025 OTTHUMG00000021899 NG_016703 10978527 PGOHUM00000241868 HGNC:13340 +HGNC:6323 KIF5A kinesin family member 5A protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "D12S1889|NKHC|MY050" neuron-specific kinesin heavy chain SPG10 spastic paraplegia 10 (autosomal dominant) Kinesins 622 1998-08-24 2004-02-13 2021-10-14 3798 ENSG00000155980 OTTHUMG00000170143 uc001sor.2 U06698 NM_004984 "CCDS8945|CCDS86312" Q12840 "9858832|10441583|16489470" MGI:109564 RGD:1303035 602821 122851 HGNC:6323 "ENST00000455537.7|NM_004984.4" HGNC:6323 +HGNC:6324 KIF5B kinesin family member 5B protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "KNS|uKHC" ubiquitous kinesin heavy chain KNS1 Kinesins 622 1998-08-24 2021-10-15 3799 ENSG00000170759 OTTHUMG00000017913 uc001iwe.5 X65873 NM_004521 CCDS7171 P33176 "1607388|11553612" MGI:1098268 RGD:621559 KIF5B 602809 HGNC:6324 "ENST00000302418.5|NM_004521.3" +HGNC:6325 KIF5C kinesin family member 5C protein-coding gene gene with protein product Approved 2q23.1-q23.2 02q23.1-q23.2 NKHC2 neuron-specific kinesin heavy chain 2 Kinesins 622 1998-08-24 2021-10-15 3800 ENSG00000168280 OTTHUMG00000153779 uc010zbu.3 AB011103 NM_004522 CCDS74586 O60282 "7514426|10964943" MGI:1098269 RGD:1308539 604593 470564 HGNC:6325 "ENST00000435030.6|NM_004522.3" HGNC:6325 +HGNC:40325 KIF5C-AS1 KIF5C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q23.1 02q23.1 Antisense RNAs 1987 2019-08-15 2019-08-15 112267889 ENSG00000231079 OTTHUMG00000153737 XR_001739733 HGNC:40325 +HGNC:21202 KIF6 kinesin family member 6 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "dJ1043E3.1|MGC33317|dJ137F1.4|dJ188D3.1|DKFZp451I2418" C6orf102 chromosome 6 open reading frame 102 Kinesins 622 2003-11-26 2021-10-15 221458 ENSG00000164627 OTTHUMG00000014648 uc003oot.3 AL832634 NM_145027 "CCDS75449|CCDS4844|CCDS87392" Q6ZMV9 30475797 MGI:1098238 RGD:621070 613919 HGNC:21202 "ENST00000287152.12|NM_145027.6" +HGNC:30497 KIF7 kinesin family member 7 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 JBTS12 Kinesins 622 2005-02-07 2021-05-26 374654 ENSG00000166813 OTTHUMG00000157177 uc002bof.3 AY358384 NM_198525 CCDS32325 Q2M1P5 "11416179|15547730" MGI:1098239 RGD:1310310 611254 268061 HGNC:30497 "ENST00000394412.8|NM_198525.3" HGNC:30497 +HGNC:16666 KIF9 kinesin family member 9 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC104186 Kinesins 622 2001-09-24 2021-10-15 64147 ENSG00000088727 OTTHUMG00000133512 uc062jch.1 AF311212 NM_001134878 "CCDS2752|CCDS2751" Q9HAQ2 11483511 MGI:1098237 RGD:1565187 607910 HGNC:16666 "ENST00000684063.1|NM_182902.4" +HGNC:26822 KIF9-AS1 KIF9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 FLJ39534 Antisense RNAs 1987 2012-11-19 2014-11-19 285352 ENSG00000227398 OTTHUMG00000156533 uc003cqw.3 NR_033373 KIF9-AS1 HGNC:26822 +HGNC:6388 KIF11 kinesin family member 11 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "Eg5|HKSP|TRIP5" KNSL1 kinesin-like 1 Kinesins 622 1992-07-09 2003-01-10 2003-01-09 2021-05-26 3832 ENSG00000138160 OTTHUMG00000018761 uc001kic.4 X85137 NM_004523 CCDS7422 P52732 "1505978|8548803" MGI:1098231 RGD:621258 148760 292401 objectId:2788 HGNC:6388 "ENST00000260731.5|NM_004523.4" HGNC:6388 +HGNC:21495 KIF12 kinesin family member 12 protein-coding gene gene with protein product Approved 9q32 09q32 Kinesins 622 2003-06-18 2021-10-13 113220 ENSG00000136883 OTTHUMG00000020533 uc004bif.3 BC010626 NM_138424 CCDS6801 Q96FN5 15643526 MGI:1098232 RGD:1308487 611278 HGNC:21495 "ENST00000640217.2|NM_001388308.1" HGNC:21495 +HGNC:14566 KIF13A kinesin family member 13A protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "bA500C11.2|RBKIN" Kinesins 622 2001-02-08 2021-10-20 63971 ENSG00000137177 OTTHUMG00000014313 uc003ncg.5 AJ291578 NM_001105566 "CCDS47380|CCDS58998|CCDS47381|CCDS54967|CCDS54968" Q9H1H9 11106728 MGI:1098264 RGD:1307825 605433 470552 HGNC:14566 "ENST00000259711.11|NM_022113.6" +HGNC:14405 KIF13B kinesin family member 13B protein-coding gene gene with protein product Approved 8p12 08p12 "GAKIN|KIAA0639" guanylate kinase associated kinesin Kinesins 622 2001-02-28 2021-10-20 23303 ENSG00000197892 OTTHUMG00000164032 uc003xhh.5 AB014539 NM_015254 CCDS55217 Q9NQT8 "9734811|10859302|16864656" MGI:1098265 RGD:1303307 607350 HGNC:14405 "ENST00000524189.6|NM_015254.4" +HGNC:19181 KIF14 kinesin family member 14 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 KIAA0042 Kinesins 622 2002-09-12 2021-10-20 9928 ENSG00000118193 OTTHUMG00000035723 uc010ppk.2 D26361 NM_014875 CCDS30963 Q15058 "7584044|16648480" MGI:1098226 RGD:1310650 611279 444781 HGNC:19181 "ENST00000367350.5|NM_014875.3" HGNC:19181 +HGNC:17273 KIF15 kinesin family member 15 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "HKLP2|NY-BR-62" KNSL7 kinesin-like 7 Kinesins 622 2001-12-11 2005-03-17 2005-03-15 2014-11-19 56992 ENSG00000163808 OTTHUMG00000156307 uc003cnx.5 AB035898 NM_020242 CCDS33744 Q9NS87 10878014 MGI:1098258 RGD:727790 617569 HGNC:17273 "ENST00000326047.9|NM_020242.3" +HGNC:15869 KIF16B kinesin family member 16B protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "FLJ20135|dJ971B4.1|SNX23" sorting nexin 23 C20orf23 chromosome 20 open reading frame 23 Kinesins 622 2001-06-21 2008-03-03 2008-03-03 2021-10-20 55614 ENSG00000089177 OTTHUMG00000031927 uc002wpg.3 AK000142 NM_017683 "CCDS56178|CCDS13122|CCDS82598" Q96L93 "16084724|16782399" MGI:1098240 RGD:1310146 618171 HGNC:15869 "ENST00000354981.7|NM_024704.5" +HGNC:19167 KIF17 kinesin family member 17 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA1405|KIF3X|KIF17B|OSM-3|KLP-2" "kinesin-like protein KIF17|KIF3-related motor protein" Kinesins 622 2002-08-29 2022-01-28 57576 ENSG00000117245 OTTHUMG00000002863 uc001bdr.6 AB037826 NM_020816 "CCDS44079|CCDS213|CCDS72722" Q9P2E2 10846156 MGI:1098229 RGD:1562511 605037 HGNC:19167 "ENST00000400463.8|NM_001122819.3" HGNC:19167 +HGNC:29441 KIF18A kinesin family member 18A protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "DKFZP434G2226|PPP1R99" protein phosphatase 1, regulatory subunit 99 "Kinesins|Protein phosphatase 1 regulatory subunits" "622|694" 2004-08-20 2014-11-18 81930 ENSG00000121621 OTTHUMG00000166195 uc001msc.3 AL136819 NM_031217 CCDS7867 Q8NI77 11230166 MGI:2446977 RGD:1561740 611271 HGNC:29441 "ENST00000263181.7|NM_031217.4" +HGNC:27102 KIF18B kinesin family member 18B protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "Kinesins|MicroRNA protein coding host genes" "622|1691" 2008-03-03 2016-04-25 146909 ENSG00000186185 OTTHUMG00000179867 uc010wjh.4 NM_001080443 "CCDS58555|CCDS45709" Q86Y91 16084724 MGI:2446979 RGD:1310360 614570 HGNC:27102 "ENST00000593135.6|NM_001265577.2" +HGNC:55300 KIF18B-DT KIF18B divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Divergent transcripts 1990 2020-10-15 2020-10-15 118827817 ENSG00000267334 +HGNC:51808 KIF18BP1 kinesin family member 18B pseudogene 1 pseudogene pseudogene Approved 16p11.1 16p11.1 2015-06-09 2015-06-09 642683 ENSG00000260746 OTTHUMG00000176018 NG_009010 PGOHUM00000293588 HGNC:51808 +HGNC:26735 KIF19 kinesin family member 19 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ37300|KIF19A" Kinesins 622 2006-01-16 2016-10-05 124602 ENSG00000196169 OTTHUMG00000150694 uc002jkm.4 AK094619 NM_153209 CCDS32718 Q2TAC6 11416179 MGI:2447024 RGD:1559936 619610 HGNC:26735 "ENST00000389916.5|NM_153209.4" +HGNC:55167 KIF19BP kinesin family member 19B, pseudogene pseudogene pseudogene Approved 7p22.3 07p22.3 2020-07-24 2020-07-24 645357 ENSG00000230914 NG_006990 11416179 MGI:3646257 +HGNC:9787 KIF20A kinesin family member 20A protein-coding gene gene with protein product Approved 5q31.2 05q31.2 MKLP2 mitotic kinesin-like protein 2 RAB6KIFL RAB6 interacting, kinesin-like (rabkinesin6) Kinesins 622 1999-05-17 2003-01-17 2003-01-13 2021-10-13 10112 ENSG00000112984 OTTHUMG00000129195 uc003lcj.4 AF070672 NM_005733 CCDS4199 O95235 "11416179|10806357|30006548" MGI:1201682 RGD:1307695 605664 HGNC:9787 "ENST00000394894.8|NM_005733.3" HGNC:9787 +HGNC:7212 KIF20B kinesin family member 20B protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "MPP1|KRMP1|CT90" cancer/testis antigen 90 MPHOSPH1 M-phase phosphoprotein 1 Kinesins 622 2000-05-12 2008-07-31 2008-07-31 2014-11-18 9585 ENSG00000138182 OTTHUMG00000018725 uc001kgr.3 L16782 NM_016195 "CCDS60590|CCDS7407" Q96Q89 "8885239|8290587|11470801" MGI:2444576 RGD:1308497 605498 470684 HGNC:7212 "ENST00000371728.8|NM_001284259.2" +HGNC:19349 KIF21A kinesin family member 21A protein-coding gene gene with protein product Approved 12q12 12q12 FLJ20052 FEOM1 fibrosis of the extraocular muscles, congenital, 1 "WD repeat domain containing|Kinesins" "362|622" 2002-10-08 2021-05-26 55605 ENSG00000139116 OTTHUMG00000169335 uc001rly.4 AK000059 NM_017641 "CCDS53776|CCDS53775|CCDS53774|CCDS31773" Q7Z4S6 10225949 MGI:109188 RGD:1305126 608283 122847 HGNC:19349 "ENST00000361418.10|NM_001173464.2" HGNC:19349 +HGNC:29442 KIF21B kinesin family member 21B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZP434J212|KIAA0449" "WD repeat domain containing|Kinesins" "362|622" 2004-11-10 2021-10-13 23046 ENSG00000116852 OTTHUMG00000035787 uc001gvs.3 BC031927 NM_001252100 "CCDS30965|CCDS58054|CCDS58055|CCDS58056" O75037 "9455484|10225949" MGI:109234 RGD:1306206 608322 HGNC:29442 "ENST00000461742.7|NM_001252102.2" +HGNC:6391 KIF22 kinesin family member 22 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "Kid|OBP-1|OBP-2" KNSL4 kinesin-like 4 Kinesins 622 1998-05-21 2003-01-10 2003-01-09 2021-05-26 3835 ENSG00000079616 OTTHUMG00000097771 uc002dts.5 D38751 NM_001256269 "CCDS10653|CCDS58444" Q14807 "8599929|11416179" MGI:109233 RGD:1311886 603213 286634 HGNC:6391 "ENST00000160827.9|NM_007317.3" HGNC:6391 +HGNC:6392 KIF23 kinesin family member 23 protein-coding gene gene with protein product Approved 15q23 15q23 "MKLP1|MKLP-1" KNSL5 kinesin-like 5 (mitotic kinesin-like protein 1) Kinesins 622 1999-09-07 2003-01-17 2003-01-13 2021-10-13 9493 ENSG00000137807 OTTHUMG00000172062 uc002asb.5 X67155 NM_001281301 "CCDS32278|CCDS32279" Q02241 1406973 MGI:1919069 RGD:1308596 LRG_1173|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1173.xml 605064 357756 HGNC:6392 "ENST00000679126.1|NM_001367805.3" HGNC:6392 +HGNC:27075 KIF23-AS1 KIF23 and PAQR5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 Antisense RNAs 1987 2021-01-07 2021-01-07 145694 ENSG00000259426 NR_132969 +HGNC:19916 KIF24 kinesin family member 24 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA571F15.4|FLJ10933|FLJ43884" C9orf48 chromosome 9 open reading frame 48 "Kinesins|Sterile alpha motif domain containing|Small nucleolar RNA protein coding host genes" "622|760|1835" 2002-12-03 2021-10-13 347240 ENSG00000186638 OTTHUMG00000019810 uc003zua.5 AK001795 NM_194313 CCDS6551 Q5T7B8 21620453 MGI:1918345 RGD:1307723 613747 470554 HGNC:19916 "ENST00000402558.7|NM_194313.4" HGNC:19916 +HGNC:6390 KIF25 kinesin family member 25 protein-coding gene gene with protein product Approved 6q27 06q27 KNSL3 kinesin-like 3 Kinesins 622 1998-05-11 2003-01-10 2003-01-09 2014-11-19 3834 ENSG00000125337 OTTHUMG00000016035 uc063syf.1 AB012722 NM_005355 "CCDS5305|CCDS43530" Q9UIL4 9925910 603815 HGNC:6390 "ENST00000643607.3|NM_030615.4" +HGNC:20953 KIF25-AS1 KIF25 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q27 06q27 HGC6.1.1 "C6orf54|NCRNA00300" "chromosome 6 open reading frame 54|non-protein coding RNA 300|KIF25 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-04-24 2011-08-10 2012-08-15 2020-04-20 100505879 ENSG00000229921 OTTHUMG00000016036 uc003qwi.5 AB016899 NR_103750 Q9Y6Z4 10382971 KIF25-AS1 HGNC:20953 +HGNC:20226 KIF26A kinesin family member 26A protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "KIAA1236|DKFZP434N178" Kinesins 622 2003-01-15 2014-11-18 26153 ENSG00000066735 OTTHUMG00000154986 uc001yos.5 AB033062 NM_015656 CCDS45171 Q9ULI4 "10574462|11416179" MGI:2447072 RGD:1307957 613231 HGNC:20226 "ENST00000423312.7|NM_015656.2" +HGNC:55439 KIF26A-DT KIF26A divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 Divergent transcripts 1990 2021-01-14 2021-01-14 105370708 ENSG00000258748 NR_158217 +HGNC:25484 KIF26B kinesin family member 26B protein-coding gene gene with protein product Approved 1q44 01q44 FLJ10157 Kinesins 622 2006-07-04 2021-05-26 55083 ENSG00000162849 OTTHUMG00000040079 uc001ibf.1 AK001019 NM_018012 CCDS44342 Q2KJY2 MGI:2447076 RGD:1560022 614026 HGNC:25484 "ENST00000407071.7|NM_018012.4" +HGNC:41098 KIF26B-AS1 KIF26B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q44 01q44 RP11-62I21.1 Antisense RNAs 1987 2017-09-28 2017-09-28 2017-09-28 2017-09-28 111216275 ENSG00000232192 OTTHUMG00000040077 NR_151721 28942040 HGNC:41098 +HGNC:18632 KIF27 kinesin family member 27 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 DKFZp434D0917 Kinesins 622 2003-04-16 2015-08-25 55582 ENSG00000165115 OTTHUMG00000020109 uc004ana.6 AY237536 NM_017576 "CCDS6665|CCDS65071|CCDS65072" Q86VH2 MGI:1922300 RGD:621071 611253 HGNC:18632 "ENST00000297814.7|NM_017576.4" +HGNC:49205 KIF28P kinesin family member 28, pseudogene pseudogene pseudogene Approved 1q44 01q44 KLP-6 Kinesins 622 2013-10-08 2016-09-27 100130097 ENSG00000223519 OTTHUMG00000153447 NG_050633 B7ZC32 16084724 MGI:2686151 RGD:1559696 HGNC:49205 +HGNC:17060 KIFAP3 kinesin associated protein 3 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "SMAP|KAP3|FLA3|KAP-1" Smg GDS kinesin-associated protein 3 Armadillo like helical domain containing 1492 2001-11-21 2016-01-21 2016-01-21 22920 ENSG00000075945 OTTHUMG00000035947 uc001ggv.4 U59919 NM_014970 "CCDS55659|CCDS55660|CCDS55661|CCDS1288" Q92845 8900189 MGI:107566 RGD:1305191 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 601836 470566 HGNC:17060 "ENST00000361580.7|NM_014970.4" +HGNC:23419 KIFBP kinesin family binding protein protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "DKFZP586B0923|TTC20|KBP" kinesin binding protein "KIAA1279|KIF1BP" "KIAA1279|KIF1 binding protein" Tetratricopeptide repeat domain containing 769 2003-11-21 2019-07-16 2019-07-16 2021-05-26 26128 ENSG00000198954 OTTHUMG00000018363 BC012180 NM_015634 CCDS7284 Q96EK5 "15883926|16225668" MGI:1919570 RGD:1593126 609367 122834 HGNC:23419 "ENST00000361983.7|NM_015634.4" HGNC:23419 +HGNC:6389 KIFC1 kinesin family member C1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 HSET KNSL2 kinesin-like 2 Kinesins 622 1993-06-25 2003-01-10 2003-01-09 2021-10-13 3833 ENSG00000237649 OTTHUMG00000031209 uc063yhh.1 D14678 NM_002263 CCDS34430 Q9BW19 8276466 MGI:2137414 RGD:1359118 603763 HGNC:6389 "ENST00000428849.7|NM_002263.4" +HGNC:29530 KIFC2 kinesin family member C2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 Kinesins 622 2004-01-26 2021-10-14 90990 ENSG00000167702 OTTHUMG00000165133 uc003zcz.4 AY007121 NM_145754 CCDS6427 Q96AC6 9115737 MGI:109187 RGD:735021 615216 HGNC:29530 "ENST00000645548.2|NM_001369769.2" +HGNC:6326 KIFC3 kinesin family member C3 protein-coding gene gene with protein product Approved 16q21 16q21 "Kinesins|MicroRNA protein coding host genes" "622|1691" 1998-04-08 2021-10-14 3801 ENSG00000140859 OTTHUMG00000133455 uc002emp.4 BC001211 NM_005550 "CCDS45493|CCDS81987|CCDS81988|CCDS81989|CCDS10789|CCDS45494" Q9BVG8 9782090 MGI:109202 RGD:1307693 604535 HGNC:6326 "ENST00000445690.7|NM_001130100.2" +HGNC:6327 KIN Kin17 DNA and RNA binding protein protein-coding gene gene with protein product Approved 10p14 10p14 "KIN17|Rts2" "antigenic determinant of recA protein (mouse) homolog|KIN, antigenic determinant of recA protein homolog (mouse)" 1999-10-14 2014-07-15 2015-02-02 22944 ENSG00000151657 OTTHUMG00000017634 uc001ijt.4 AJ005273 NM_012311 CCDS7080 O60870 "1923796|24140279" MGI:96676 RGD:1596107 601720 HGNC:6327 "ENST00000379562.9|NM_012311.4" +HGNC:6329 KIR2DL1 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "cl-42|nkat1|47.11|p58.1|CD158A" killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2016-11-09 3802 ENSG00000125498 OTTHUMG00000065885 uc002qhb.2 L41267 NM_014218 CCDS12904 P43626 "7749980|7716543" MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604936 CD158A HGNC:6329 "ENST00000336077.11|NM_014218.3" +HGNC:6330 KIR2DL2 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus "cl-43|nkat6|CD158B1|CD158k" killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2016-01-20 3803 OTTHUMG00000151579 uc061eyy.1 "L76669|GL949748|GL949753" NM_014219 P43627 "7749980|8662091" MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604937 CD158k +HGNC:6331 KIR2DL3 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "cl-6|nkat2|nkat2a|nkat2b|p58|CD158B2" killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2016-11-15 3804 ENSG00000243772 OTTHUMG00000065887 uc002qgx.4 L41268 NM_015868 CCDS33107 P43628 "7749980|8662091" MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604938 CD158B2 HGNC:6331 "ENST00000342376.4|NM_015868.3" +HGNC:6332 KIR2DL4 killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "103AS|15.212|CD158D" killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2016-11-15 3805 ENSG00000189013 OTTHUMG00000065880 uc002qhg.5 X97229 NM_002255 "CCDS42620|CCDS42619" Q99706 8946682 MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604945 CD158D HGNC:6332 +HGNC:16345 KIR2DL5A killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5A protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus "KIR2DL5.1|KIR2DL5|CD158F" killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 2005-06-03 2016-01-20 2018-11-13 57292 ENSG00000274143 OTTHUMG00000151665 uc032ivi.2 "AF217485|GL949747" NM_020535 Q8N109 "11086080|12185535" MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 605305 I43.951 CD158F +HGNC:16346 KIR2DL5B killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus "KIR2DL5.2|KIR2DL5|KIR2DL5.3|KIR2DL5.4" killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B Killer cell immunoglobulin like receptors 620 2005-06-06 2016-01-20 2016-11-09 553128 uc061fdp.1 "AF217486|KI270886|KI270930|KI270914|KI270882" NM_001018081 Q8NHK3 "11086080|12185535" "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 615727 +HGNC:16344 KIR2DP1 killer cell immunoglobulin like receptor, two Ig domains pseudogene 1 pseudogene pseudogene Approved 19q13.42 19q13.42 "KIRZ|KIRY|KIR15|KIR2DL6" killer cell immunoglobulin-like receptor, two domains, pseudogene 1 Killer cell immunoglobulin like receptors 620 2005-06-06 2016-01-20 2016-11-09 554300 ENSG00000242473 OTTHUMG00000065882 uc061efo.1 AF204908 NG_033793 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ HGNC:16344 +HGNC:6333 KIR2DS1 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus "EB6ActI|EB6ActII|CD158H" killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2018-11-13 3806 ENSG00000276387 OTTHUMG00000151075 uc061dvn.1 "X89892|GL949751|GL949747|GL949749" NM_014512 Q14954 8627176 MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604952 CD158H +HGNC:6334 KIR2DS2 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus "cl-49|nkat5|183ActI|CD158J" killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2016-01-20 100132285 OTTHUMG00000151577 uc061euo.1 "L76667|GL949748|GL949753" NM_012312 P43631 "7749980|7716543" MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604953 CD158J +HGNC:6335 KIR2DS3 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus nkat7 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 Killer cell immunoglobulin like receptors 620 1997-11-14 2016-01-20 2016-11-09 3808 uc061evi.1 "L76670|KI270886|KI270882" NM_012313 Q14952 8662091 MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604954 +HGNC:6336 KIR2DS4 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "cl-39|KKA3|nkat8|CD158I" killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2020-03-24 3809 ENSG00000221957 OTTHUMG00000065932 uc061ctl.1 L76671 NM_012314 P43632 "8765026|7749980|28734803" MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604955 CD158i HGNC:6336 +HGNC:6337 KIR2DS5 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus "nkat9|CD158G" killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2016-01-20 3810 uc061fdr.1 "L76672|GL949747" NM_014513 Q14953 8662091 MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604956 CD158G +HGNC:6338 KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "cl-2|NKB1|cl-11|nkat3|NKB1B|AMB11|CD158e1/2|CD158E1|CD158e2" KIR killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1995-12-20 2016-01-20 2016-10-05 3811 ENSG00000167633 OTTHUMG00000065933 uc002qhk.5 L41269 NM_013289 CCDS42621 P43629 "7716543|7749980" "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604946 CD158e1/2 HGNC:6338 +HGNC:6339 KIR3DL2 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "cl-5|nkat4|nkat4a|nkat4b|CD158K" killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 1997-11-14 2016-01-20 2016-10-05 3812 ENSG00000240403 OTTHUMG00000065935 uc002qho.5 L41270 NM_001242867 "CCDS12906|CCDS58677" P43630 "7716543|8662091" "MGI:2652397|MGI:3612791" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 604947 objectId:3067 CD158k HGNC:6339 "ENST00000326321.7|NM_006737.4" +HGNC:16312 KIR3DL3 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "KIRC1|KIR3DL7|KIR44|CD158Z" killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 2004-01-29 2016-01-20 2019-06-07 115653 ENSG00000242019 OTTHUMG00000065884 uc032ieo.2 AF352324 NM_153443 CCDS12903 Q8N743 11513144 "MGI:2652397|MGI:3612791" RGD:727836 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 610095 CD158z HGNC:16312 "ENST00000291860.2|NM_153443.5" +HGNC:16343 KIR3DP1 killer cell immunoglobulin like receptor, three Ig domains pseudogene 1 pseudogene pseudogene Approved 19q13.42 19q13.42 "KIRX|KIR48|KIR2DS6|KIR3DS2P|CD158C" killer cell immunoglobulin-like receptor, three domains, pseudogene 1 "CD molecules|Killer cell immunoglobulin like receptors" "471|620" 2005-06-06 2016-01-20 2016-11-09 548594 ENSG00000264257 OTTHUMG00000178663 uc032lyq.2 AF204919 NG_033792 "15580659|15194195" IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ 610604 PGOHUM00000263016 CD158C HGNC:16343 +HGNC:6340 KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus nkat10 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 Killer cell immunoglobulin like receptors 620 1997-11-14 2016-01-20 2018-11-13 3813 ENSG00000275434 OTTHUMG00000151668 uc061evc.1 "L76661|GL949747" NM_001083539 Q14943 8662091 MGI:3612791 IPD-KIR Database|http://www.ebi.ac.uk/ipd/kir/ +HGNC:25043 KIR3DX1 killer cell immunoglobulin like receptor, three Ig domains X1 (pseudogene) pseudogene pseudogene Approved 19q13.42 19q13.42 FLJ00060 LENG12 "leukocyte receptor cluster (LRC) member 12|killer cell immunoglobulin-like receptor, three domains, X1|killer cell immunoglobulin like receptor, three Ig domains X1" Killer cell immunoglobulin like receptors 620 2006-03-24 2006-09-12 2019-03-06 2019-03-06 90011 ENSG00000104970 OTTHUMG00000065696 uc010erm.4 BC033195 NR_026716 Q9H7L2 11441184 HGNC:25043 +HGNC:15734 KIRREL1 kirre like nephrin family adhesion molecule 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 NEPH1 nephrin-like protein 1 KIRREL kin of IRRE like (Drosophila) "C2-set domain containing|I-set domain containing" "592|593" 2002-01-22 2017-06-08 2017-06-08 2018-04-11 55243 ENSG00000183853 OTTHUMG00000022438 uc001frn.6 AK001707 NM_018240 "CCDS1172|CCDS72952" Q96J84 12424224 MGI:1891396 RGD:727883 607428 HGNC:15734 "ENST00000359209.11|NM_018240.7" +HGNC:41412 KIRREL1-IT1 KIRREL1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q23.1 01q23.1 KIRREL-IT1 "KIRREL intronic transcript 1 (non-protein coding)|KIRREL intronic transcript 1" Intronic transcripts 1989 2011-05-23 2017-06-08 2017-06-08 2020-01-31 100505785 ENSG00000226520 OTTHUMG00000035615 uc057mff.1 NR_145471 KIRREL-IT1 HGNC:41412 +HGNC:18816 KIRREL2 kirre like nephrin family adhesion molecule 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "NLG1|NEPH3|FILTRIN|DKFZp564A1164|MGC15718" kin of IRRE like 2 (Drosophila) "C2-set domain containing|I-set domain containing" "592|593" 2002-07-01 2017-06-08 2018-04-11 84063 ENSG00000126259 OTTHUMG00000180691 uc002ocb.5 AL136654 NM_032123 "CCDS12481|CCDS12480|CCDS12479|CCDS86753" Q6UWL6 "12837264|12504092" MGI:2442334 RGD:1308456 607762 HGNC:18816 "ENST00000360202.10|NM_199180.4" +HGNC:23204 KIRREL3 kirre like nephrin family adhesion molecule 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "NEPH2|KIAA1867|KIRRE" kin of IRRE like 3 (Drosophila) "C2-set domain containing|I-set domain containing|MicroRNA protein coding host genes" "592|593|1691" 2003-10-09 2017-06-08 2018-04-11 84623 ENSG00000149571 OTTHUMG00000165831 uc001qea.4 AB058770 NM_032531 "CCDS55796|CCDS73413|CCDS53723" Q8IZU9 "12424224|11347906" MGI:1914953 RGD:1311382 607761 199900 HGNC:23204 "ENST00000525144.7|NM_032531.4" HGNC:23204 +HGNC:42655 KIRREL3-AS1 KIRREL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 KIRREL3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-11 2012-08-15 2014-11-19 100874250 ENSG00000257271 OTTHUMG00000169624 uc058izx.1 NR_174952 KIRREL3-AS1 +HGNC:42656 KIRREL3-AS2 KIRREL3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 KIRREL3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-08-11 2012-08-15 2014-11-19 100874251 ENSG00000254960 OTTHUMG00000165803 uc001qee.3 NR_046986 KIRREL3-AS2 HGNC:42656 +HGNC:26855 KIRREL3-AS3 KIRREL3 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 FLJ40224 "PRR10|NCRNA00288" "proline rich 10|non-protein coding RNA 288|KIRREL3 antisense RNA 3 (non-protein coding)" Antisense RNAs 1987 2005-10-03 2011-08-11 2012-08-15 2012-10-12 283165 ENSG00000218109 OTTHUMG00000165805 uc001qef.1 AK097543 NR_040078 Q8N7Y1 KIRREL3-AS3 HGNC:26855 +HGNC:6341 KISS1 KiSS-1 metastasis suppressor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "prepro-kisspeptin|kisspeptin" Neuropeptides 1902 1998-05-18 2018-01-05 2018-01-05 3814 ENSG00000170498 OTTHUMG00000036060 uc001har.4 U43527 NM_002256 CCDS41454 Q15726 "9192814|9806840" MGI:2663985 RGD:727850 603286 292693 ligandId:1288 HGNC:6341 "ENST00000367194.5|NM_002256.4" HGNC:6341 +HGNC:4510 KISS1R KISS1 receptor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HOT7T175|AXOR12" GPR54 G protein-coupled receptor 54 Peptide receptors 220 1999-03-12 2006-02-15 2006-02-15 2014-11-19 84634 ENSG00000116014 OTTHUMG00000181900 uc002lqk.4 AB051065 NM_032551 CCDS12049 Q969F8 10100623 MGI:2148793 RGD:70930 604161 122857 objectId:266 HGNC:4510 "ENST00000234371.10|NM_032551.5" HGNC:4510 +HGNC:6342 KIT KIT proto-oncogene, receptor tyrosine kinase protein-coding gene gene with protein product Approved 4q12 04q12 "CD117|SCFR|C-Kit" mast/stem cell growth factor receptor Kit PBT "piebald trait|v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog" "Receptor tyrosine kinases|CD molecules|Immunoglobulin like domain containing" "321|471|594" 1986-01-01 2019-01-22 2021-04-13 3815 ENSG00000157404 OTTHUMG00000128713 uc010igr.4 S67773 NM_000222 "CCDS3496|CCDS47058" P10721 9027509 MGI:96677 RGD:620568 LRG_307|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_307.xml KIT 164920 122862 objectId:1805 CD117 HGNC:6342 "ENST00000288135.6|NM_000222.3" HGNC:6342 +HGNC:6343 KITLG KIT ligand protein-coding gene gene with protein product Approved 12q21.32 12q21.32 "SCF|SF|Kitl|KL-1|FPH2|SLF|DFNA69" "mast cell growth factor|stem cell factor|steel factor|familial progressive hyperpigmentation 2" MGF 1991-06-04 2021-04-13 4254 ENSG00000049130 OTTHUMG00000169888 uc001tav.4 M59964 NM_003994 "CCDS31868|CCDS31867" P21583 "2208279|1707188|19375057|26522471" MGI:96974 RGD:3086 LRG_1379|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1379.xml 184745 201509 ligandId:5055 HGNC:6343 "ENST00000644744.1|NM_000899.5" HGNC:6343 +HGNC:15865 KIZ kizuna centrosomal protein protein-coding gene gene with protein product Approved 20p11.23 20p11.23 HT013 "NCRNA00153|C20orf19|PLK1S1" "non-protein coding RNA 153|chromosome 20 open reading frame 19|polo-like kinase 1 substrate 1" 2001-06-21 2014-02-17 2014-02-17 2014-11-18 55857 ENSG00000088970 OTTHUMG00000032020 AF220187 NM_018474 "CCDS74706|CCDS74705|CCDS74708|CCDS74707" Q2M2Z5 16980960 MGI:2684960 RGD:1307071 615757 400687 HGNC:15865 "ENST00000619189.5|NM_018474.6" HGNC:15865 +HGNC:51231 KIZ-AS1 KIZ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 Antisense RNAs 1987 2014-08-08 2014-08-08 101929591 ENSG00000232712 OTTHUMG00000032018 BC034426 NR_109956 KIZ-AS1 HGNC:51231 +HGNC:6344 KL klotho protein-coding gene gene with protein product Approved 13q13.1 13q13.1 KLA alpha-klotho Glycoside hydrolase family 1 1652 1999-03-24 2021-07-29 9365 ENSG00000133116 OTTHUMG00000017408 uc001uus.3 AB005142 NM_004795 CCDS9347 Q9UEF7 9464267 MGI:1101771 RGD:620396 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=KL 604824 179419 objectId:3146 HGNC:6344 "ENST00000380099.4|NM_004795.4" HGNC:6344 +HGNC:15527 KLB klotho beta protein-coding gene gene with protein product Approved 4p14 04p14 b-Klotho "Glycoside hydrolase family 1|MicroRNA protein coding host genes" "1652|1691" 2005-10-10 2016-12-15 152831 ENSG00000134962 OTTHUMG00000128577 uc003gua.4 AB079373 NM_175737 CCDS3451 Q86Z14 MGI:1932466 RGD:1308227 611135 HGNC:15527 "ENST00000257408.5|NM_175737.4" +HGNC:6387 KLC1 kinesin light chain 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "KNS2A|KLC|hKLC1S|hKLC1N|hKLC1P|hKLC1G|hKLC1R|hKLC1J|hKLC1B" KNS2 "kinesin 2 60/70kDa|kinesin 2" Tetratricopeptide repeat domain containing 769 1994-07-07 2007-03-09 2007-03-09 2016-10-05 3831 ENSG00000126214 OTTHUMG00000169227 uc059fsm.1 AF267530 NM_005552 "CCDS41996|CCDS32165|CCDS45168" Q07866 "8274221|11106729" MGI:107978 RGD:621411 600025 HGNC:6387 "ENST00000334553.11|NM_001394837.1" +HGNC:56065 KLC1-AS1 KLC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 Antisense RNAs 1987 2021-12-10 2021-12-10 123706534 ENSG00000246451 +HGNC:20716 KLC2 kinesin light chain 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ12387 Tetratricopeptide repeat domain containing 769 2005-09-13 2021-05-26 64837 ENSG00000174996 OTTHUMG00000133757 uc010rov.2 AK022449 NM_022822 "CCDS44653|CCDS8130" Q9H0B6 9624122 MGI:107953 RGD:1307377 611729 450291 HGNC:20716 "ENST00000394067.7|NM_001318734.2" HGNC:20716 +HGNC:40934 KLC2-AS1 KLC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Antisense RNAs 1987 2021-03-17 2021-03-17 105369352 ENSG00000254855 OTTHUMG00000166905 +HGNC:55515 KLC2-AS2 KLC2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Antisense RNAs 1987 2021-03-17 2021-03-17 2021-03-17 2021-03-17 105369351 ENSG00000254762 +HGNC:20717 KLC3 kinesin light chain 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "KLC2L|KNS2B|KLCt" Tetratricopeptide repeat domain containing 769 2005-09-13 2016-10-05 147700 ENSG00000104892 OTTHUMG00000143722 uc002pbf.2 AK092481 NM_145275 CCDS12660 Q6P597 MGI:1277971 RGD:621432 601334 HGNC:20717 "ENST00000391946.7|NM_177417.3" +HGNC:21624 KLC4 kinesin light chain 4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 bA387M24.3 KNSL8 kinesin-like 8 Tetratricopeptide repeat domain containing 769 2003-06-27 2005-09-13 2005-09-13 2021-05-26 89953 ENSG00000137171 OTTHUMG00000014720 uc003otw.3 AK055293 NM_138343 "CCDS75459|CCDS4882|CCDS4883|CCDS47429" Q9NSK0 MGI:1922014 RGD:1306555 HGNC:21624 "ENST00000347162.10|NM_201521.3" +HGNC:55228 KLC4-AS1 KLC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 Antisense RNAs 1987 2020-09-16 2020-09-16 112267958 ENSG00000272170 XR_002956347 +HGNC:6345 KLF1 Kruppel like factor 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 EKLF erythroid Kruppel-like factor Kruppel-like factor 1 (erythroid) "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 1999-12-14 2016-06-03 2021-05-26 10661 ENSG00000105610 OTTHUMG00000180536 uc002mvo.4 U37106 NM_006563 CCDS12285 Q13351 "8924208|9119377" MGI:1342771 RGD:1309398 LRG_825|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_825.xml 600599 240663 HGNC:6345 "ENST00000264834.6|NM_006563.5" HGNC:6345 +HGNC:6347 KLF2 Kruppel like factor 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 LKLF lung Kruppel-like factor Kruppel-like factor 2 (lung) "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 1999-12-14 2016-06-03 2016-06-03 10365 ENSG00000127528 OTTHUMG00000182330 uc002ndw.4 AF123344 NM_016270 CCDS12343 Q9Y5W3 "10217429|10458913" MGI:1342772 RGD:1359220 602016 470568 HGNC:6347 "ENST00000248071.6|NM_016270.4" +HGNC:55304 KLF2-DT KLF2 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 Divergent transcripts 1990 2020-10-15 2020-10-15 118827812 ENSG00000267275 +HGNC:49280 KLF2P1 Kruppel like factor 2 pseudogene 1 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2016-06-03 2016-06-03 106480253 ENSG00000231240 OTTHUMG00000153624 NG_043904 PGOHUM00000240908 HGNC:49280 +HGNC:49281 KLF2P2 Kruppel like factor 2 pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2016-06-03 2016-06-03 106480678 ENSG00000230646 OTTHUMG00000153926 NG_045031 PGOHUM00000240932 HGNC:49281 +HGNC:49282 KLF2P3 Kruppel like factor 2 pseudogene 3 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2016-06-03 2016-06-03 106481672 ENSG00000223349 OTTHUMG00000154048 NG_042968 PGOHUM00000240305 HGNC:49282 +HGNC:49283 KLF2P4 Kruppel like factor 2 pseudogene 4 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-10-15 2016-06-03 2016-06-03 100533668 ENSG00000236516 OTTHUMG00000153557 NG_028774 PGOHUM00000240310 HGNC:49283 +HGNC:16516 KLF3 Kruppel like factor 3 protein-coding gene gene with protein product Approved 4p14 04p14 BKLF basic Kruppel-like factor Kruppel-like factor 3 (basic) "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 2001-09-13 2016-06-03 2016-06-03 51274 ENSG00000109787 OTTHUMG00000097821 uc003gth.5 AF285837 NM_016531 CCDS3444 P57682 18391014 MGI:1342773 RGD:1593290 609392 HGNC:16516 "ENST00000261438.10|NM_016531.6" +HGNC:25796 KLF3-AS1 KLF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p14 04p14 FLJ13197 Antisense RNAs 1987 2014-03-20 2014-03-20 79667 ENSG00000231160 OTTHUMG00000160386 NR_026804 KLF3-AS1 HGNC:25796 +HGNC:41518 KLF3P1 Kruppel like factor 3 pseudogene 1 pseudogene pseudogene Approved 5q35.1 05q35.1 Kruppel-like factor 3 (basic) pseudogene 1 2011-05-03 2016-06-03 2016-06-03 651815 ENSG00000253218 OTTHUMG00000163278 NG_006658 PGOHUM00000235453 HGNC:41518 +HGNC:41519 KLF3P2 Kruppel like factor 3 pseudogene 2 pseudogene pseudogene Approved 3q25.31 03q25.31 Kruppel-like factor 3 (basic) pseudogene 2 2011-05-03 2016-06-03 2016-06-03 100124394 ENSG00000241879 OTTHUMG00000158649 NG_006657 PGOHUM00000238242 HGNC:41519 +HGNC:6348 KLF4 Kruppel like factor 4 protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "EZF|GKLF" gut Kruppel-like factor Kruppel-like factor 4 (gut) "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 1999-12-14 2016-06-03 2016-10-05 9314 ENSG00000136826 OTTHUMG00000020449 uc004bdg.4 AF022184 NM_004235 CCDS6770 O43474 "9422764|16372018" MGI:1342287 RGD:621445 KLF4 602253 HGNC:6348 "ENST00000374672.5|NM_004235.6" +HGNC:49738 KLF4P1 Kruppel like factor 4 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 Kruppel-like factor 4 (gut) pseudogene 1 2014-02-13 2016-06-03 2016-06-03 100420113 ENSG00000233186 OTTHUMG00000019473 NG_023778 PGOHUM00000260450 HGNC:49738 +HGNC:6349 KLF5 Kruppel like factor 5 protein-coding gene gene with protein product Approved 13q22.1 13q22.1 "IKLF|CKLF" intestinal Kruppel-like factor BTEB2 Kruppel-like factor 5 (intestinal) "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 2000-03-06 2016-06-03 2022-03-07 688 ENSG00000102554 OTTHUMG00000017074 uc001vje.4 D14520 NM_001286818 "CCDS66562|CCDS9448" Q13887 "8479902|9973612" MGI:1338056 RGD:621446 602903 HGNC:6349 "ENST00000377687.6|NM_001730.5" +HGNC:2235 KLF6 Kruppel like factor 6 protein-coding gene gene with protein product Approved 10p15.2 10p15.2 "CPBP|GBF|Zf9|PAC1" GC-rich binding factor "BCD1|ST12|COPEB" core promoter element binding protein "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 1997-10-16 2004-12-01 2016-06-03 2016-10-05 1316 ENSG00000067082 OTTHUMG00000017567 uc001iha.4 U51869 NM_001160124 "CCDS7060|CCDS53490" Q99612 "9503030|9685731" MGI:1346318 RGD:62389 KLF6 602053 HGNC:2235 "ENST00000497571.6|NM_001300.6" +HGNC:6350 KLF7 Kruppel like factor 7 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 UKLF ubiquitous Kruppel-like factor Kruppel-like factor 7 (ubiquitous) "Zinc fingers C2H2-type|Kruppel like factors|MicroRNA protein coding host genes" "28|624|1691" 1999-12-14 2016-06-03 2021-05-26 8609 ENSG00000118263 OTTHUMG00000132935 uc002vbz.3 AB015132 NM_003709 "CCDS2373|CCDS59439|CCDS59438|CCDS59440" O75840 9774444 MGI:1935151 RGD:1306029 604865 HGNC:6350 "ENST00000309446.11|NM_003709.4" +HGNC:41355 KLF7-IT1 KLF7 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 KLF7 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-23 2015-02-25 2015-02-25 100874272 ENSG00000237892 OTTHUMG00000154726 uc061rum.1 KLF7-IT1 +HGNC:17207 KLF7P1 Kruppel like factor 7 pseudogene 1 pseudogene pseudogene Approved 3q26.2 03q26.2 KLF7P kruppel-like factor 7 pseudogene 2008-12-09 2010-02-24 2022-01-10 2022-01-10 100128036 ENSG00000240704 OTTHUMG00000158998 NG_009752 PGOHUM00000237860 HGNC:17207 +HGNC:6351 KLF8 Kruppel like factor 8 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "BKLF3|ZNF741|DXS741" "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 2000-03-14 2016-06-03 2021-05-26 11279 ENSG00000102349 OTTHUMG00000021666 uc004dur.4 U28282 NM_007250 "CCDS87749|CCDS14373|CCDS55428" O95600 MGI:2442430 RGD:1565831 300286 470570 HGNC:6351 "ENST00000468660.6|NM_007250.5" +HGNC:41520 KLF8P1 Kruppel like factor 8 pseudogene 1 pseudogene pseudogene Approved 16q12.1 16q12.1 2011-05-03 2016-06-03 2017-10-26 100128777 ENSG00000260726 OTTHUMG00000174457 NG_011843 PGOHUM00000293855 HGNC:41520 +HGNC:1123 KLF9 Kruppel like factor 9 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 BTEB1 basic transcription element binding protein 1 "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 1994-05-17 2004-12-01 2016-06-03 2020-09-17 687 ENSG00000119138 OTTHUMG00000019991 uc004aht.4 BC069431 NM_001206 CCDS6633 Q13886 1356762 MGI:1333856 RGD:70934 602902 HGNC:1123 "ENST00000377126.4|NM_001206.4" +HGNC:54815 KLF9-DT KLF9 divergent transcript non-coding RNA RNA, long non-coding Approved 9q21.12 09q21.12 Divergent transcripts 1990 2020-01-17 2020-07-16 101927086 XR_001746707 32079618 +HGNC:11810 KLF10 Kruppel like factor 10 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "EGRA|TIEG1" early growth response alpha TIEG TGFB inducible early growth response "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 1997-08-28 2004-12-01 2016-06-03 2021-10-13 7071 ENSG00000155090 OTTHUMG00000164735 uc011lhk.3 U21847 NM_001032282 "CCDS47905|CCDS6294" Q13118 "8584037|9721211|20087894" MGI:1101353 RGD:621652 LRG_758|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_758.xml 601878 HGNC:11810 "ENST00000285407.11|NM_005655.4" HGNC:11810 +HGNC:11811 KLF11 Kruppel like factor 11 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "Tieg3|MODY7|FKLF" TIEG2 TGFB inducible early growth response 2 "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 1998-10-02 2004-12-01 2016-06-03 2022-01-17 8462 ENSG00000172059 OTTHUMG00000119004 uc002raf.1 AF028008 NM_003597 "CCDS1668|CCDS54333" O14901 "9748269|11087666|15774581" MGI:2653368 RGD:1306646 603301 122868 HGNC:11811 "ENST00000305883.6|NM_003597.5" HGNC:11811 +HGNC:56037 KLF11-DT KLF11 divergent transcript non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 Divergent transcripts 1990 2021-12-08 2021-12-08 101929882 NR_135558 +HGNC:6346 KLF12 Kruppel like factor 12 protein-coding gene gene with protein product Approved 13q22.1 13q22.1 "AP-2rep|HSPC122|AP2REP" "KLF12 zinc finger transcriptional repressor|AP-2rep transcription factor|AP-2 repressor" "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 2000-05-25 2016-06-03 2016-10-05 11278 ENSG00000118922 OTTHUMG00000017078 uc058xlm.1 AJ243274 NM_007249 CCDS9449 Q9Y4X4 10704285 MGI:1333796 RGD:1309204 607531 HGNC:6346 "ENST00000377669.7|NM_007249.5" +HGNC:13672 KLF13 Kruppel like factor 13 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "RFLAT-1|BTEB3|NSLP1|FKLF-2" "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 2000-09-28 2016-06-03 2016-06-03 51621 ENSG00000169926 OTTHUMG00000172224 uc001zfo.4 AF132599 NM_015995 CCDS10025 Q9Y2Y9 "10415854|10023774" MGI:1354948 RGD:1565099 605328 HGNC:13672 "ENST00000307145.4|NM_015995.4" +HGNC:23025 KLF14 Kruppel like factor 14 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 BTEB5 "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 2003-08-19 2016-06-03 2021-04-13 136259 ENSG00000266265 OTTHUMG00000188298 uc033aho.2 AF490374 NM_138693 CCDS5825 Q8TD94 17480121 MGI:3577024 RGD:1306012 LRG_1039|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1039.xml 609393 HGNC:23025 "ENST00000583337.4|NM_138693.4" +HGNC:14536 KLF15 Kruppel like factor 15 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 KKLF kidney-enriched Kruppel-like factor "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 2001-02-21 2016-06-03 2016-06-03 28999 ENSG00000163884 OTTHUMG00000162689 uc011bkk.2 AB029254 NM_014079 CCDS3036 Q9UIH9 10982849 MGI:1929988 RGD:70918 606465 HGNC:14536 "ENST00000296233.4|NM_014079.4" +HGNC:16857 KLF16 Kruppel like factor 16 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "NSLP2|BTEB4|DRRF" "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 2001-11-27 2016-06-03 2016-06-03 83855 ENSG00000129911 OTTHUMG00000179994 uc002luc.4 AF327440 NM_031918 CCDS12075 Q9BXK1 11438660 MGI:2153049 RGD:1305966 606139 HGNC:16857 "ENST00000250916.6|NM_031918.4" +HGNC:18830 KLF17 Kruppel like factor 17 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "Zfp393|FLJ40160" ZNF393 zinc finger protein 393 "Zinc fingers C2H2-type|Kruppel like factors" "28|624" 2004-11-03 2006-02-17 2016-06-03 2016-06-03 128209 ENSG00000171872 OTTHUMG00000009664 uc001clp.4 BC049844 NM_173484 CCDS508 Q5JT82 16460907 MGI:2181068 RGD:1307711 609602 HGNC:18830 "ENST00000372299.4|NM_173484.4" +HGNC:41521 KLF17P1 Kruppel like factor 17 pseudogene 1 pseudogene pseudogene Approved 12q14.1 12q14.1 2011-05-03 2016-06-03 2016-06-03 100133321 ENSG00000258316 OTTHUMG00000170205 NG_028765 PGOHUM00000239489 HGNC:41521 +HGNC:49135 KLF17P2 Kruppel like factor 17 pseudogene 2 pseudogene pseudogene Approved 4p15.33 04p15.33 2013-09-16 2016-06-03 2016-06-03 106481669 ENSG00000251317 OTTHUMG00000160356 NG_045256 PGOHUM00000245855 HGNC:49135 +HGNC:51793 KLF18 Kruppel like factor 18 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 Kruppel like factors 624 2015-05-29 2016-06-03 2018-11-16 105378952 ENSG00000283039 OTTHUMG00000007489 NM_001358438 CCDS85967 A0A0U1RQI7 24244731 MGI:2387418 RGD:1310095 HGNC:51793 "ENST00000634670.1|NM_001358438.1" +HGNC:19836 KLHDC1 kelch domain containing 1 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 MST025 2002-11-27 2014-11-19 122773 ENSG00000197776 OTTHUMG00000140295 uc001www.3 AF111806 NM_172193 CCDS9692 Q8N7A1 MGI:2672853 RGD:1308211 611281 HGNC:19836 "ENST00000359332.7|NM_172193.3" +HGNC:20231 KLHDC2 kelch domain containing 2 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "HCLP-1|LCP" 2003-01-15 2014-11-18 23588 ENSG00000165516 OTTHUMG00000140288 uc001wwx.4 AK001771 NM_014315 CCDS9693 Q9Y2U9 11384994 MGI:1916804 RGD:1306504 611280 HGNC:20231 "ENST00000298307.10|NM_014315.3" +HGNC:20704 KLHDC3 kelch domain containing 3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "PEAS|hPeas|dJ20C7.3" 2003-06-02 2014-11-19 116138 ENSG00000124702 OTTHUMG00000014714 uc003otl.4 AB055925 NM_057161 CCDS4880 Q9BQ90 "12444059|12606021" MGI:2651568 RGD:1307105 611248 HGNC:20704 "ENST00000326974.9|NM_057161.4" +HGNC:25272 KLHDC4 kelch domain containing 4 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 DKFZp434G0522 2004-07-05 2016-10-05 54758 ENSG00000104731 OTTHUMG00000137657 uc002fki.4 AK001742 NM_017566 "CCDS54050|CCDS10963|CCDS54051" Q8TBB5 MGI:2384569 RGD:1561676 HGNC:25272 "ENST00000270583.10|NM_017566.4" +HGNC:26791 KLHDC7A kelch domain containing 7A protein-coding gene gene with protein product Approved 1p36.13 01p36.13 FLJ38753 2005-10-06 2014-11-19 127707 ENSG00000179023 OTTHUMG00000002431 uc001bax.4 AK096072 NM_152375 CCDS185 Q5VTJ3 MGI:2444612 RGD:1309439 HGNC:26791 "ENST00000400664.3|NM_152375.3" +HGNC:25145 KLHDC7B kelch domain containing 7B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 MGC16635 2005-10-06 2005-12-13 2017-11-29 113730 ENSG00000130487 OTTHUMG00000150250 uc003bmi.3 BC009980 NM_138433 CCDS14097 Q96G42 MGI:3648212 RGD:1562257 HGNC:25145 "ENST00000648057.3|NM_138433.5" +HGNC:53791 KLHDC7B-DT KLHDC7B divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.33 22q13.33 enhancer 22 Divergent transcripts 1990 2020-01-31 2021-02-08 105373098 ENSG00000272666 XR_938356 "29625054|33538300" +HGNC:25573 KLHDC8A kelch domain containing 8A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ10748 2005-12-05 2014-11-19 55220 ENSG00000162873 OTTHUMG00000037199 uc031prw.1 NM_018203 CCDS30985 Q8IYD2 MGI:2442630 RGD:1305132 614503 HGNC:25573 "ENST00000367155.8|NM_018203.3" +HGNC:28557 KLHDC8B kelch domain containing 8B protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC35097 2005-12-05 2014-11-18 200942 ENSG00000185909 OTTHUMG00000156814 uc003cwh.4 NM_173546 CCDS2791 Q8IXV7 MGI:1925517 RGD:1359445 613169 HGNC:28557 "ENST00000332780.4|NM_173546.3" +HGNC:28489 KLHDC9 kelch domain containing 9 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 KARCA1 kelch/ankyrin repeat containing cyclin A1 interacting protein 2007-07-19 2014-11-19 126823 ENSG00000162755 OTTHUMG00000031479 uc001fxr.4 BC022077 NM_152366 "CCDS41425|CCDS30919" Q8NEP7 15159402 MGI:1916124 RGD:1561025 617375 HGNC:28489 "ENST00000368011.9|NM_152366.5" +HGNC:22194 KLHDC10 kelch domain containing 10 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "KIAA0265|slim" scruin like at the midline homolog (Drosophila) 2008-08-20 2014-11-19 23008 ENSG00000128607 OTTHUMG00000157654 uc003vpj.3 NM_014997 CCDS5815 Q6PID8 MGI:1924038 RGD:1309792 615152 HGNC:22194 "ENST00000335420.10|NM_014997.4" +HGNC:6352 KLHL1 kelch like family member 1 protein-coding gene gene with protein product Approved 13q21.33 13q21.33 "KIAA1490|MRP2|FLJ30047" "Kelch-like protein 1|Mayven-related protein 2" "kelch (Drosophila)-like 1|kelch-like 1 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 1999-11-26 2015-11-18 2016-10-05 57626 ENSG00000150361 OTTHUMG00000017056 uc001vip.4 AB040923 NM_020866 "CCDS9445|CCDS73582" Q9NR64 10888605 MGI:2136335 RGD:1307452 605332 HGNC:6352 "ENST00000377844.9|NM_020866.3" +HGNC:6353 KLHL2 kelch like family member 2 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 MAV mayven "kelch (Drosophila)-like 2 (Mayven)|kelch-like 2, Mayven (Drosophila)" "Kelch like|BTB domain containing" "617|861" 1999-12-14 2015-11-18 2016-10-05 11275 ENSG00000109466 OTTHUMG00000161294 uc003irb.4 AF059569 NM_001161521 "CCDS54816|CCDS82974|CCDS82975|CCDS54815|CCDS34094" O95198 "10397770|16035103" MGI:1924363 RGD:1306388 605774 HGNC:6353 "ENST00000226725.11|NM_007246.4" +HGNC:44046 KLHL2P1 kelch like family member 2 pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 MAVP1 kelch-like 2, Mayven (Drosophila) pseudogene 1 2012-05-29 2015-11-18 2015-11-18 729249 ENSG00000250412 OTTHUMG00000161332 NG_012269 PGOHUM00000250793 HGNC:44046 +HGNC:6354 KLHL3 kelch like family member 3 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 KIAA1129 "kelch (Drosophila)-like 3|kelch-like 3 (Drosophila)" "Kelch like|BTB domain containing|MicroRNA protein coding host genes" "617|861|1691" 1999-11-26 2015-11-18 2021-05-26 26249 ENSG00000146021 OTTHUMG00000129155 uc010jek.3 AB032955 NM_001257194 "CCDS58970|CCDS4192|CCDS58969" Q9UH77 10843806 MGI:2445185 RGD:1565218 605775 303801 HGNC:6354 "ENST00000309755.9|NM_017415.3" HGNC:6354 +HGNC:6355 KLHL4 kelch like family member 4 protein-coding gene gene with protein product Approved Xq21.31 Xq21.31 "KIAA1687|DKELCHL|KHL4" "kelch (Drosophila)-like 4|kelch-like 4 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2000-05-02 2015-11-18 2020-04-02 56062 ENSG00000102271 OTTHUMG00000021946 uc004efb.3 AF284765 NM_019117 "CCDS14456|CCDS14457" Q9C0H6 11401425 MGI:2442829 RGD:1565441 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KLHL4 300348 HGNC:6355 "ENST00000373119.9|NM_019117.5" +HGNC:6356 KLHL5 kelch like family member 5 protein-coding gene gene with protein product Approved 4p14 04p14 "kelch (Drosophila)-like 5|kelch-like 5 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2000-06-09 2015-11-18 2016-10-05 51088 ENSG00000109790 OTTHUMG00000097819 uc003gtp.4 AF272976 NM_001007075 "CCDS54756|CCDS33975" Q96PQ7 "11590829|14672410" MGI:1919028 RGD:1309661 608064 HGNC:6356 "ENST00000504108.7|NM_015990.5" +HGNC:18653 KLHL6 kelch like family member 6 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 FLJ00029 kelch-like protein KLHL6 kelch-like 6 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-05-21 2015-11-18 2016-10-05 89857 ENSG00000172578 OTTHUMG00000148673 uc003flr.4 AF441792 NM_130446 CCDS3245 Q8WZ60 "11214971|12617994" MGI:2686922 RGD:1307521 614214 HGNC:18653 "ENST00000341319.8|NM_130446.4" +HGNC:40850 KLHL6-AS1 KLHL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 KLHL6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874019 ENSG00000242522 OTTHUMG00000158438 uc062qov.1 NR_046687 KLHL6-AS1 HGNC:40850 +HGNC:15646 KLHL7 kelch like family member 7 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "KLHL6|SBBI26|RP42" retinitis pigmentosa 42 kelch-like 7 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-05-21 2015-11-18 2021-05-26 55975 ENSG00000122550 OTTHUMG00000094813 uc003svs.5 NM_018846 "CCDS34609|CCDS55095|CCDS5378" Q8IXQ5 19520207 MGI:1196453 RGD:1305564 611119 201546 HGNC:15646 "ENST00000339077.10|NM_001031710.3" HGNC:15646 +HGNC:43431 KLHL7-DT KLHL7 divergent transcript non-coding RNA RNA, long non-coding Approved 7p15.3 07p15.3 PLATAK placental transcript antisense to KLHL7 KLHL7-AS1 "KLHL7 antisense RNA 1 (non-protein coding)|KLHL7 antisense RNA 1|KLHL7 antisense RNA 1 (head to head)" Divergent transcripts 1990 2011-10-21 2018-03-23 2018-03-23 2018-03-23 100775104 ENSG00000230658 OTTHUMG00000152580 uc003svo.1 AK054880 NR_046220 KLHL7-AS1 HGNC:43431 +HGNC:18644 KLHL8 kelch like family member 8 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 KIAA1378 kelch-like 8 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-06-10 2015-11-18 2016-10-05 57563 ENSG00000145332 OTTHUMG00000130593 uc003hql.2 AB037799 NM_001292003 "CCDS75163|CCDS77937|CCDS3617" Q9P2G9 MGI:2179430 RGD:1304685 611967 HGNC:18644 "ENST00000273963.10|NM_020803.5" +HGNC:18732 KLHL9 kelch like family member 9 protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "KIAA1354|FLJ13568" kelch-like 9 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-06-12 2015-11-18 2022-01-12 55958 ENSG00000198642 OTTHUMG00000019669 uc003zoy.4 AB037775 NM_018847 CCDS6503 Q9P2J3 17543862 MGI:2180122 RGD:1304814 611201 409811 HGNC:18732 "ENST00000359039.5|NM_018847.4" HGNC:18732 +HGNC:18829 KLHL10 kelch like family member 10 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 FLJ32662 kelch-like 10 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-07-29 2015-11-18 2022-01-12 317719 ENSG00000161594 OTTHUMG00000152510 uc010cxr.4 AK057224 NM_152467 CCDS42340 Q6JEL2 17047026 MGI:2181067 RGD:1303290 608778 465725 HGNC:18829 "ENST00000293303.5|NM_152467.5" HGNC:18829 +HGNC:19008 KLHL11 kelch like family member 11 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 FLJ10572 kelch-like 11 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2002-08-16 2015-11-18 2016-10-05 55175 ENSG00000178502 OTTHUMG00000133506 uc002hyf.2 NM_018143 CCDS11411 Q9NVR0 MGI:2388648 RGD:1306673 619078 HGNC:19008 "ENST00000319121.4|NM_018143.3" +HGNC:19360 KLHL12 kelch like family member 12 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 C3IP1 kelch-like 12 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2004-02-13 2015-11-18 2015-11-18 59349 ENSG00000117153 OTTHUMG00000041385 uc001gyo.2 AF190900 NM_021633 CCDS1429 Q53G59 "16547521|24334870" MGI:2385619 RGD:628717 614522 HGNC:19360 "ENST00000367261.8|NM_021633.4" +HGNC:22931 KLHL13 kelch like family member 13 protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ10262 "BKLHD2|KIAA1309" "BTB and kelch domain containing 2, KIAA1309|kelch-like 13 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2003-07-23 2004-02-18 2015-11-18 2020-04-02 90293 ENSG00000003096 OTTHUMG00000022252 uc022cde.2 AB037730 NM_033495 "CCDS14571|CCDS55480|CCDS55481" Q9P2N7 10718198 MGI:1914705 RGD:1559646 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KLHL13 300655 HGNC:22931 +HGNC:29266 KLHL14 kelch like family member 14 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 KIAA1384 printor kelch-like 14 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2004-04-30 2015-11-18 2015-11-18 57565 ENSG00000197705 OTTHUMG00000179819 uc002kxm.2 AB037805 NM_020805 CCDS32813 Q9P2G3 "10718198|19535332" MGI:1921249 RGD:1566178 613772 HGNC:29266 "ENST00000359358.9|NM_020805.3" +HGNC:29347 KLHL15 kelch like family member 15 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 KIAA1677 kelch-like 15 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2004-06-14 2015-11-18 2021-05-26 80311 ENSG00000174010 OTTHUMG00000021261 uc004dba.5 AB051464 NM_030624 CCDS35217 Q96M94 "11214970|14702039" MGI:1923400 RGD:1563101 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KLHL15 300980 470572 HGNC:29347 "ENST00000328046.8|NM_030624.3" HGNC:29347 +HGNC:24023 KLHL17 kelch like family member 17 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 actinfilin kelch-like 17 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2004-08-05 2015-11-18 2016-10-05 339451 ENSG00000187961 OTTHUMG00000040721 uc001aca.3 AY423763 NM_198317 CCDS30550 Q6TDP4 12063253 MGI:2678948 RGD:708444 619262 HGNC:24023 "ENST00000338591.8|NM_198317.3" +HGNC:29120 KLHL18 kelch like family member 18 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "KIAA0795|FLJ13703" kelch-like 18 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2004-07-28 2015-11-18 2016-10-05 23276 ENSG00000114648 OTTHUMG00000156522 uc003crd.4 AB018338 NM_025010 CCDS33749 O94889 9872452 MGI:2143315 RGD:1310570 HGNC:29120 "ENST00000232766.6|NM_025010.5" +HGNC:25056 KLHL20 kelch like family member 20 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "KLEIP|KHLHX" kelch-like 20 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2005-02-03 2015-11-18 2015-11-18 27252 ENSG00000076321 OTTHUMG00000040548 uc001gjc.5 AB026190 NM_014458 CCDS1310 Q9Y2M5 "14668487|20389280" MGI:2444855 RGD:1309490 617679 HGNC:25056 "ENST00000209884.5|NM_014458.4" +HGNC:29041 KLHL21 kelch like family member 21 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 KIAA0469 kelch-like 21 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2004-12-23 2015-11-18 2016-10-05 9903 ENSG00000162413 OTTHUMG00000001437 uc001aoa.3 AK090472 NM_014851 CCDS30575 Q9UJP4 MGI:1919288 RGD:1305863 616262 HGNC:29041 "ENST00000377658.8|NM_014851.4" +HGNC:25888 KLHL22 kelch like family member 22 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "FLJ14360|KELCHL" kelch-like 22 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2005-05-19 2015-11-18 2015-11-18 84861 ENSG00000099910 OTTHUMG00000188269 uc002zsl.2 NM_032775 CCDS13780 Q53GT1 24067371 MGI:1337995 RGD:1306288 618020 HGNC:25888 "ENST00000328879.9|NM_032775.4" +HGNC:27506 KLHL23 kelch like family member 23 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "MGC2610|FLJ37812|MGC22679" kelch-like 23 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2005-05-19 2015-11-18 2015-11-18 151230 ENSG00000213160 OTTHUMG00000132213 uc002ufh.3 BC010437 NM_144711 CCDS2236 Q8NBE8 MGI:2683536 RGD:1307166 HGNC:27506 "ENST00000392647.7|NM_144711.6" +HGNC:25947 KLHL24 kelch like family member 24 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "DRE1|FLJ20059" kelch-like 24 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2005-09-10 2015-11-18 2021-05-26 54800 ENSG00000114796 OTTHUMG00000156911 uc003flw.4 NM_017644 CCDS3246 Q6TFL4 MGI:1923035 RGD:727971 611295 HGNC:25947 "ENST00000242810.11|NM_017644.3" HGNC:25947 +HGNC:25732 KLHL25 kelch like family member 25 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "FLJ12587|ENC2|ENC-2" ectodermal-neural cortex 2 kelch-like 25 (Drosophila) "Kelch like|BTB domain containing|MicroRNA protein coding host genes" "617|861|1691" 2005-11-17 2015-11-18 2022-01-12 64410 ENSG00000183655 OTTHUMG00000148672 uc002bly.5 NM_022480 CCDS10339 Q9H0H3 27664236 MGI:2668031 RGD:1310815 HGNC:25732 "ENST00000337975.6|NM_022480.4" HGNC:25732 +HGNC:25623 KLHL26 kelch like family member 26 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 kelch-like 26 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2006-01-23 2015-11-18 2015-11-18 55295 ENSG00000167487 OTTHUMG00000183114 uc002njz.2 NM_018316 "CCDS12384|CCDS86727|CCDS86726" Q53HC5 MGI:2443079 RGD:1312034 HGNC:25623 "ENST00000300976.9|NM_018316.3" +HGNC:19741 KLHL28 kelch like family member 28 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 FLJ20081 BTBD5 "BTB (POZ) domain containing 5|kelch-like 28 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2002-11-20 2007-01-09 2015-11-18 2016-10-05 54813 ENSG00000179454 OTTHUMG00000140263 uc001wvr.4 AK000088 NM_001308112 "CCDS9680|CCDS76675" Q9NXS3 MGI:1913939 RGD:1311326 HGNC:19741 "ENST00000396128.9|NM_017658.5" +HGNC:29404 KLHL29 kelch like family member 29 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 KIAA1921 KBTBD9 "kelch repeat and BTB (POZ) domain containing 9|kelch-like 29 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2004-01-05 2007-01-09 2015-11-18 2016-10-05 114818 ENSG00000119771 OTTHUMG00000151899 uc010ykg.3 NM_052920 CCDS54335 Q96CT2 11572484 MGI:2683857 RGD:1311076 HGNC:29404 "ENST00000486442.6|NM_052920.2" +HGNC:24770 KLHL30 kelch like family member 30 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 FLJ43374 kelch-like 30 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2007-01-09 2015-11-18 2016-04-25 377007 ENSG00000168427 OTTHUMG00000152905 uc002vxr.3 NM_198582 CCDS46555 Q0D2K2 MGI:1918038 RGD:1309644 HGNC:24770 "ENST00000409223.2|NM_198582.4" +HGNC:31018 KLHL30-AS1 KLHL30 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 C2orf19 "chromosome 2 open reading frame 19|KLHL30 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-01-19 2011-12-07 2012-08-15 2016-11-10 394261 ENSG00000279484 OTTHUMG00000152904 uc061udl.1 BC031945 Q8NEE0 +HGNC:21353 KLHL31 kelch like family member 31 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "bA345L23.2|BKLHD6" KBTBD1 "kelch repeat and BTB (POZ) domain containing 1|kelch-like 31 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2003-11-26 2007-01-09 2015-11-18 2015-11-18 401265 ENSG00000124743 OTTHUMG00000014882 uc003pcb.4 NM_001003760 CCDS34478 Q9H511 MGI:3045305 RGD:1560540 610749 HGNC:21353 "ENST00000370905.4|NM_001003760.5" +HGNC:21221 KLHL32 kelch like family member 32 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "BKLHD5|KIAA1900" "BTB and kelch domain containing 5|KIAA1900|kelch-like 32 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2003-11-21 2007-01-09 2015-11-18 2016-10-05 114792 ENSG00000186231 OTTHUMG00000015247 uc011eae.1 AB067487 NM_052904 "CCDS69155|CCDS69154|CCDS75495|CCDS5038" Q96NJ5 MGI:3612790 RGD:1310364 HGNC:21221 "ENST00000369261.9|NM_052904.4" +HGNC:31952 KLHL33 kelch like family member 33 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 kelch-like 33 (Drosophila) Kelch like 617 2007-08-24 2015-11-18 2018-11-16 123103 ENSG00000185271 OTTHUMG00000170982 uc010tli.2 NM_001109997 CCDS53882 A6NCF5 MGI:3644593 RGD:2324282 HGNC:31952 "ENST00000636854.3|NM_001365790.2" +HGNC:26634 KLHL34 kelch like family member 34 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "FLJ34960|RP11-450P7.3" kelch-like 34 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2007-01-10 2015-11-18 2015-11-18 257240 ENSG00000185915 OTTHUMG00000021234 uc004czz.2 AK092279 NM_153270 CCDS14199 Q8N239 MGI:2685234 RGD:1560439 HGNC:26634 "ENST00000379499.3|NM_153270.3" +HGNC:26597 KLHL35 kelch like family member 35 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FLJ33790 kelch-like 35 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2008-07-07 2015-11-18 2016-04-25 283212 ENSG00000149243 OTTHUMG00000133573 uc001owm.3 NM_173583 CCDS44685 Q6PF15 MGI:1919434 RGD:1565895 HGNC:26597 "ENST00000539798.3|NM_001039548.3" +HGNC:17844 KLHL36 kelch like family member 36 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FLJ12543 C16orf44 "chromosome 16 open reading frame 44|kelch-like 36 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2001-12-19 2008-07-07 2015-11-18 2015-11-18 79786 ENSG00000135686 OTTHUMG00000137642 uc002fig.4 AK022605 NM_001303451 "CCDS10948|CCDS76909" Q8N4N3 MGI:2385305 RGD:1561366 HGNC:17844 "ENST00000564996.6|NM_024731.4" +HGNC:34435 KLHL38 kelch like family member 38 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 C8ORFK36 kelch-like 38 (Drosophila) "Kelch like|BTB domain containing" "617|861" 2008-07-25 2015-11-18 2015-11-18 340359 ENSG00000175946 OTTHUMG00000164983 uc003yqs.2 NM_001081675 CCDS43766 Q2WGJ6 MGI:3045310 RGD:1564169 HGNC:34435 "ENST00000684634.1|NM_001081675.3" +HGNC:30372 KLHL40 kelch like family member 40 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "SRYP|NEM8" "sarcosynapsin|nemaline myopathy type 8" KBTBD5 "kelch repeat and BTB (POZ) domain containing 5|kelch-like 40 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2003-12-16 2013-01-08 2015-11-18 2021-05-26 131377 ENSG00000157119 OTTHUMG00000133045 uc003clv.2 AK056577 NM_152393 CCDS2703 Q2TBA0 23746549 MGI:1919580 RGD:1305368 615340 358562 HGNC:30372 "ENST00000287777.5|NM_152393.4" HGNC:30372 +HGNC:16905 KLHL41 kelch like family member 41 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "SARCOSIN|Krp1" sarcomeric muscle protein KBTBD10 "kelch repeat and BTB (POZ) domain containing 10|kelch-like 41 (Drosophila)" "Kelch like|BTB domain containing" "617|861" 2004-01-15 2013-01-08 2015-11-18 2021-05-26 10324 ENSG00000239474 OTTHUMG00000132205 uc002ueu.1 AF056929 NM_006063 CCDS2234 O60662 9655184 MGI:2683854 RGD:620852 607701 376977 HGNC:16905 "ENST00000284669.2|NM_006063.3" HGNC:16905 +HGNC:29252 KLHL42 kelch like family member 42 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "KIAA1340|Ctb9" KLHDC5 kelch domain containing 5 Kelch like 617 2005-02-08 2013-01-30 2015-11-18 2020-03-27 57542 ENSG00000087448 OTTHUMG00000169217 uc001rij.4 AB037761 NM_020782 CCDS31763 Q9P2K6 "19261606|32071084" MGI:2444786 RGD:1560924 618919 HGNC:29252 "ENST00000381271.7|NM_020782.2" +HGNC:6357 KLK1 kallikrein 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Klk6 kallikrein 1, renal/pancreas/salivary Kallikreins 616 1988-06-27 2006-10-27 2016-11-15 3816 ENSG00000167748 OTTHUMG00000182876 uc002ptk.3 L10038 NM_002257 CCDS12804 P06870 "1684954|16800724|16800723" MGI:102850 RGD:2969 147910 objectId:2865 3.4.21.35 HGNC:6357 "ENST00000301420.3|NM_002257.4" +HGNC:6363 KLK2 kallikrein related peptidase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 kallikrein 2, prostatic Kallikreins 616 1988-08-11 2015-11-13 2020-01-06 3817 ENSG00000167751 OTTHUMG00000182963 uc002ptv.4 M18157 NM_005551.3 "CCDS58675|CCDS12808|CCDS42597" P20151 "2468530|16800724|16800723" "MGI:95291|MGI:95293|MGI:97320|MGI:97322|MGI:102850|MGI:891980|MGI:891981|MGI:891982|MGI:892018|MGI:892019|MGI:892020|MGI:892021|MGI:892022|MGI:892023" KLK2 147960 S01.161 objectId:2372 3.4.21.35 HGNC:6363 "ENST00000325321.8|NM_005551.5" +HGNC:6364 KLK3 kallikrein related peptidase 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PSA prostate specific antigen APS kallikrein 3, (prostate specific antigen) Kallikreins 616 2001-06-22 2015-11-13 2021-11-25 354 ENSG00000142515 OTTHUMG00000182867 uc021uyi.2 X14810 NM_145864 "CCDS12807|CCDS33083|CCDS46155" P07288 "2456523|2436946|16800724|16800723" "MGI:95291|MGI:95293|MGI:97320|MGI:97322|MGI:102850|MGI:891980|MGI:891981|MGI:891982|MGI:892018|MGI:892019|MGI:892020|MGI:892021|MGI:892022|MGI:892023" 176820 S01.162 objectId:2373 HGNC:6364 "ENST00000326003.7|NM_001648.2" +HGNC:6365 KLK4 kallikrein related peptidase 4 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "EMSP|EMSP1|PSTS|KLK-L1" enamel matrix serine proteinase 1 PRSS17 kallikrein 4 (prostase, enamel matrix, prostate) "Kallikreins|Serine proteases" "616|738" 1999-04-29 2015-11-13 2017-08-04 9622 ENSG00000167749 OTTHUMG00000182964 uc002pua.1 AF113141 NM_004917 CCDS12809 Q9Y5K2 "10077646|10438493|16800724|10863090|9465170" MGI:1861379 RGD:1303228 603767 139168 S01.251 objectId:2374 HGNC:6365 HGNC:6365 +HGNC:6366 KLK5 kallikrein related peptidase 5 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SCTE|KLK-L2" kallikrein 5 Kallikreins 616 2000-03-16 2015-11-13 2016-11-15 25818 ENSG00000167754 OTTHUMG00000183097 uc002puf.4 AF135028 NM_012427 CCDS12810 Q9Y337 "10514489|10608802|16800724|17012259" MGI:1915918 RGD:1593461 605643 S01.017 objectId:2375 HGNC:6366 "ENST00000336334.8|NM_012427.5" +HGNC:6367 KLK6 kallikrein related peptidase 6 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "Bssp|Klk7|neurosin" "PRSS9|PRSS18" "protease, serine, 18|kallikrein 6 (neurosin, zyme)" "Kallikreins|Serine proteases" "616|738" 1997-06-09 2015-11-13 2019-08-21 5653 ENSG00000167755 OTTHUMG00000183098 uc002pul.3 U62801 NM_002774 "CCDS42599|CCDS12811" Q92876 "9003450|16800724|16800723" MGI:1343166 RGD:3419 602652 S01.236 objectId:2376 HGNC:6367 "ENST00000310157.7|NM_002774.4" +HGNC:6368 KLK7 kallikrein related peptidase 7 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 SCCE PRSS6 kallikrein 7 (chymotryptic, stratum corneum) "Kallikreins|Serine proteases" "616|738" 1995-06-14 2015-11-13 2019-08-21 5650 ENSG00000169035 OTTHUMG00000182917 uc002puo.4 L33404 NM_005046 "CCDS12812|CCDS59414" P49862 "8034709|16800724|16800723" MGI:1346336 RGD:1306420 604438 S01.300 objectId:2377 HGNC:6368 "ENST00000595820.6|NM_005046.4" +HGNC:6369 KLK8 kallikrein related peptidase 8 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "HNP|TADG14|neuropsin|ovasin" PRSS19 kallikrein 8 (neuropsin/ovasin) "Kallikreins|Serine proteases" "616|738" 1999-09-09 2015-11-13 2019-08-21 11202 ENSG00000129455 OTTHUMG00000183086 uc002pur.2 AB008390 NM_007196 "CCDS74433|CCDS12813|CCDS12814|CCDS12815|CCDS42600" O60259 "10102990|9714609|16800724|16800723" MGI:1343327 RGD:1305998 605644 S01.244 objectId:2378 HGNC:6369 +HGNC:6370 KLK9 kallikrein related peptidase 9 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KLK-L3 kallikrein 9 Kallikreins 616 2000-03-16 2015-11-13 2019-08-21 284366 ENSG00000213022 OTTHUMG00000183087 uc002pux.2 AF135026 NM_012315 CCDS12816 Q9UKQ9 "16800724|16800723" MGI:1921082 RGD:1308280 605504 S01.307 HGNC:6370 "ENST00000594211.2|NM_012315.2" +HGNC:6358 KLK10 kallikrein related peptidase 10 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 NES1 PRSSL1 kallikrein 10 Kallikreins 616 1997-05-09 2015-11-13 2016-11-15 5655 ENSG00000129451 OTTHUMG00000182916 uc002pva.4 AF024605 NM_002776 CCDS12817 O43240 "8764136|9533035|16800724|16800723|10675891" MGI:1916790 RGD:1303242 602673 S01.246 HGNC:6358 "ENST00000358789.8|NM_145888.3" +HGNC:6359 KLK11 kallikrein related peptidase 11 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 TLSP PRSS20 kallikrein 11 "Kallikreins|Serine proteases" "616|738" 1999-10-19 2015-11-13 2016-11-15 11012 ENSG00000167757 OTTHUMG00000182915 uc002pvd.2 AB012917 NM_006853 "CCDS12818|CCDS54297|CCDS12819" Q9UBX7 "9765601|10662548|16800724|16800723" MGI:1929977 RGD:1308690 604434 S01.257 HGNC:6359 "ENST00000453757.8|NM_001136032.3" +HGNC:6360 KLK12 kallikrein related peptidase 12 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KLK-L5 kallikrein 12 Kallikreins 616 2000-03-16 2015-11-13 2016-10-05 43849 ENSG00000186474 OTTHUMG00000165806 uc002pvh.2 NM_019598 "CCDS12820|CCDS12821" Q9UKR0 "16800724|16800723" MGI:1916761 RGD:1308975 605539 S01.020 HGNC:6360 "ENST00000684732.1|NM_001370125.1" +HGNC:6361 KLK13 kallikrein related peptidase 13 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KLK-L4 kallikrein 13 Kallikreins 616 2000-03-16 2015-11-13 2016-11-15 26085 ENSG00000167759 OTTHUMG00000182912 uc002pvn.4 NM_015596 "CCDS86794|CCDS12822|CCDS86795" Q9UKR3 "16800724|16800723" MGI:3615275 RGD:1309337 605505 S01.306 HGNC:6361 "ENST00000595793.6|NM_015596.3" +HGNC:6362 KLK14 kallikrein related peptidase 14 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KLK-L6 kallikrein 14 Kallikreins 616 2000-03-16 2015-11-13 2016-10-05 43847 ENSG00000129437 OTTHUMG00000143721 uc061bwe.1 AF283670 NM_022046 CCDS12823 Q9P0G3 "16800724|16800723" MGI:2447564 RGD:1308606 606135 S01.029 objectId:2866 HGNC:6362 "ENST00000650543.2|NM_001369775.2" +HGNC:20453 KLK15 kallikrein related peptidase 15 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "HSRNASPH|ACO|prostinogen" kallikrein 15 Kallikreins 616 2004-04-20 2015-11-13 2016-11-15 55554 ENSG00000174562 OTTHUMG00000183116 uc002ptl.4 AF242195 NM_017509 "CCDS12805|CCDS62766|CCDS12806" Q9H2R5 "11010966|12439720|16800724|16800723" MGI:2447533 RGD:1310995 610601 S01.081 HGNC:20453 +HGNC:6371 KLKB1 kallikrein B1 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 Fletcher factor KLK3 kallikrein B, plasma (Fletcher factor) 1 Kallikreins 616 1999-04-23 2015-11-13 2021-04-13 3818 ENSG00000164344 OTTHUMG00000150347 uc003iyy.4 M13143 NM_000892 "CCDS34120|CCDS82982" P03952 "9535413|3521732" MGI:102849 RGD:67382 LRG_565|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_565.xml 229000 122872 S01.212 objectId:2379 HGNC:6371 "ENST00000264690.11|NM_000892.5" HGNC:6371 +HGNC:21260 KLKP1 kallikrein pseudogene 1 pseudogene pseudogene Approved 19q13.33 19q13.33 "YKLK1|PsiKLK1|KLK31P" kallikrein 31 pseudogene 2005-08-04 2014-03-18 606293 ENSG00000197588 OTTHUMG00000183118 AY302756 NG_005220 Q107X0 "15498522|16541416|18196551" S01.P08 HGNC:21260 +HGNC:37212 KLLN killin, p53 regulated DNA replication inhibitor protein-coding gene gene with protein product Approved 10q23 10q23 killin killin, p53-regulated DNA replication inhibitor 2011-02-18 2017-12-08 2021-04-13 100144748 ENSG00000227268 OTTHUMG00000186455 uc009xti.3 NM_001126049 CCDS44454 B2CW77 18385383 RGD:7720631 LRG_1087|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1087.xml 612105 326886 HGNC:37212 "ENST00000445946.5|NM_001126049.2" HGNC:37212 +HGNC:6372 KLRA1P killer cell lectin like receptor A1, pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 "Ly49|LY49L" "KLRA1|KLRAP1" "killer cell lectin-like receptor subfamily A, member 1|killer cell lectin-like receptor subfamily A pseudogene 1" Killer cell lectin like receptors 621 1998-01-16 2016-01-14 2016-01-14 2016-01-14 10748 ENSG00000256667 OTTHUMG00000160127 AF047445 NR_028045 9645365 604274 HGNC:6372 +HGNC:6373 KLRB1 killer cell lectin like receptor B1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CD161|NKR-P1|NKR-P1A|hNKR-P1A|CLEC5B" natural killer cell surface protein P1A NKR killer cell lectin-like receptor subfamily B, member 1 "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 1998-01-16 2016-01-14 2016-10-05 3820 ENSG00000111796 OTTHUMG00000168581 uc010sgt.3 U11276 NM_002258 CCDS8601 Q12918 8077657 "MGI:107540|MGI:107539|MGI:107538" RGD:1586149 602890 CD161 HGNC:6373 "ENST00000229402.4|NM_002258.3" +HGNC:6374 KLRC1 killer cell lectin like receptor C1 protein-coding gene gene with protein product Approved 12p13 12p13 "NKG2-A|NKG2-B|CD159a" NKG2-1/B activating NK receptor NKG2 killer cell lectin-like receptor subfamily C, member 1 "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 1998-01-16 2016-01-14 2016-01-14 3821 ENSG00000134545 OTTHUMG00000168584 uc001qyn.5 U54782 NM_002259 "CCDS8625|CCDS76531|CCDS8626" P26715 9598306 MGI:1336161 RGD:2976 161555 objectId:2849 CD159a HGNC:6374 "ENST00000359151.8|NM_002259.5" +HGNC:6375 KLRC2 killer cell lectin like receptor C2 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "NKG2-C|CD159c|NKG2C" "NKG2-C type II integral membrane protein|natural killer cell receptor G2-C" killer cell lectin-like receptor subfamily C, member 2 "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 1998-01-16 2016-01-14 2021-02-22 3822 ENSG00000205809 OTTHUMG00000168532 uc001qyk.4 X54869 NM_002260 CCDS31745 P26717 9598306 MGI:1336162 RGD:2977 602891 objectId:3172 CD159c HGNC:6375 "ENST00000381902.7|NM_002260.4" +HGNC:6376 KLRC3 killer cell lectin like receptor C3 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 NKG2-E killer cell lectin-like receptor subfamily C, member 3 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 1998-01-16 2016-01-14 2016-10-05 3823 ENSG00000205810 OTTHUMG00000167149 uc001qyi.2 L14542 NM_002261 "CCDS41755|CCDS31744" Q07444 9598306 MGI:1929720 RGD:1560637 602892 HGNC:6376 "ENST00000396439.7|NM_002261.3" +HGNC:6377 KLRC4 killer cell lectin like receptor C4 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 NKG2-F killer cell lectin-like receptor subfamily C, member 4 Killer cell lectin like receptors 621 1998-09-03 2016-01-14 2016-10-05 8302 ENSG00000183542 OTTHUMG00000168575 uc001qye.4 U96846 NM_013431 CCDS8624 O43908 9598306 "MGI:1336161|MGI:1929720" 602893 449077 HGNC:6377 "ENST00000309384.3|NM_013431.2" +HGNC:48357 KLRC4-KLRK1 KLRC4-KLRK1 readthrough other readthrough Approved 12p13.2 12p13.2 2013-09-25 2013-09-25 100528032 ENSG00000255819 OTTHUMG00000168531 NM_001199805 MGI:1196250 HGNC:48357 +HGNC:6378 KLRD1 killer cell lectin like receptor D1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 CD94 killer cell lectin-like receptor subfamily D, member 1 "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 1998-01-16 2016-01-14 2020-01-06 3824 ENSG00000134539 OTTHUMG00000168419 uc001qxw.5 U30610 NM_002262 "CCDS86281|CCDS8622|CCDS8621" Q13241 7589107 MGI:1196275 RGD:2978 602894 CD94 HGNC:6378 "ENST00000336164.9|NM_002262.5" +HGNC:13342 KLRF1 killer cell lectin like receptor F1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CLEC5C|NKp80" killer cell lectin-like receptor subfamily F, member 1 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 2001-07-20 2016-01-14 2016-01-14 51348 ENSG00000150045 OTTHUMG00000168391 uc031yua.2 AF175206 NM_016523 "CCDS41750|CCDS76526|CCDS76527" Q9NZS2 10671213 RGD:1587563 605029 HGNC:13342 "ENST00000617889.5|NM_016523.3" +HGNC:37646 KLRF2 killer cell lectin like receptor F2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 NKp65 killer cell lectin-like receptor subfamily F, member 2 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 2010-06-30 2016-01-14 2020-01-06 100431172 ENSG00000256797 OTTHUMG00000187141 uc021quy.1 NM_001190765 CCDS53743 D3W0D1 20194751 618814 HGNC:37646 "ENST00000535540.1|NM_001190765.1" +HGNC:6380 KLRG1 killer cell lectin like receptor G1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "MAFA|2F1|MAFA-L|CLEC15A" "C-type lectin domain family 15, member A|mast cell function-associated antigen" killer cell lectin-like receptor subfamily G, member 1 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 1999-09-17 2016-01-14 2022-02-21 10219 ENSG00000139187 OTTHUMG00000168277 uc001qvg.4 AF097358 NM_005810 "CCDS86277|CCDS8599" Q96E93 "9862378|9842918|16461340|16140789" MGI:1355294 RGD:61978 604874 HGNC:6380 "ENST00000356986.8|NM_005810.4" +HGNC:24778 KLRG2 killer cell lectin like receptor G2 protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ44186|CLEC15B" C-type lectin domain family 15, member B killer cell lectin-like receptor subfamily G, member 2 "Killer cell lectin like receptors|C-type lectin domain containing" "621|1298" 2007-01-22 2016-01-14 2016-01-14 346689 ENSG00000188883 OTTHUMG00000157705 uc003vvb.4 AK126174 NM_198508 CCDS5854 A4D1S0 MGI:1921503 RGD:1587495 HGNC:24778 "ENST00000340940.5|NM_198508.4" +HGNC:18788 KLRK1 killer cell lectin like receptor K1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "NKG2D|KLR|NKG2-D|CD314" D12S2489E "DNA segment on chromosome 12 (unique) 2489 expressed sequence|killer cell lectin-like receptor subfamily K, member 1" "CD molecules|Killer cell lectin like receptors|C-type lectin domain containing" "471|621|1298" 2003-12-12 2016-01-14 2016-10-05 22914 ENSG00000213809 OTTHUMG00000168574 uc009zhj.4 AJ001687 NM_007360 CCDS8623 P26718 "9683661|2007850" MGI:1196250 RGD:3180 611817 CD314 HGNC:18788 "ENST00000240618.11|NM_007360.4" +HGNC:54868 KLRK1-AS1 KLRK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 LOC101928100 Antisense RNAs 1987 2020-04-01 2020-04-01 101928100 ENSG00000245648 NR_120430 32216054 +HGNC:6381 KMO kynurenine 3-monooxygenase protein-coding gene gene with protein product Approved 1q43 01q43 kynurenine 3-hydroxylase kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 1998-12-18 2016-06-03 2016-10-05 8564 ENSG00000117009 OTTHUMG00000039635 uc009xgp.4 AF056032 NM_003679 CCDS1618 O15229 9237672 MGI:2138151 RGD:620610 603538 objectId:2886 1.14.13.9 HGNC:6381 "ENST00000366559.9|NM_003679.5" +HGNC:7132 KMT2A lysine methyltransferase 2A protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TRX1|HRX|ALL-1|HTRX1|CXXC7|MLL1A|MLL1|ALL1|HTRX" Histone-lysine N-methyltransferase 2A MLL "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)|lysine (K)-specific methyltransferase 2A|Trithorax-like protein|CXXC-type zinc finger protein 7|Acute lymphocytic 1" "PHD finger proteins|Zinc fingers CXXC-type|Lysine methyltransferases|Bromodomain containing|SET domain containing" "88|136|487|1232|1399" 1991-11-15 2013-05-09 2016-02-12 2021-12-13 4297 ENSG00000118058 OTTHUMG00000166337 L04284 NM_005933 "CCDS55791|CCDS31686" Q03164 "1720549|24886118" MGI:96995 RGD:1586165 LRG_613|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_613.xml KMT2A 159555 123271 objectId:2688 2.1.1.364 HGNC:7132 "ENST00000534358.8|NM_001197104.2" HGNC:7132 +HGNC:15840 KMT2B lysine methyltransferase 2B protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "KIAA0304|MLL2|TRX2|HRX2|WBP7|MLL1B|MLL4|CXXC10" "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4|Histone-lysine N-methyltransferase 2B" lysine (K)-specific methyltransferase 2B "PHD finger proteins|Zinc fingers CXXC-type|Lysine methyltransferases|SET domain containing" "88|136|487|1399" 2013-05-09 2016-02-12 2021-12-14 9757 ENSG00000272333 OTTHUMG00000048119 AJ007041 NM_014727 CCDS46055 Q9UMN6 "10409430|10637508|27839873|25561738" MGI:109565 RGD:7678027 606834 objectId:2689 2.1.1.364 HGNC:15840 "ENST00000420124.4|NM_014727.3" HGNC:15840 +HGNC:13726 KMT2C lysine methyltransferase 2C protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "KIAA1506|HALR" Histone-lysine N-methyltransferase 2C MLL3 "myeloid/lymphoid or mixed-lineage leukemia 3|lysine (K)-specific methyltransferase 2C" "PHD finger proteins|Lysine methyltransferases|SET domain containing" "88|487|1399" 2000-11-08 2013-05-09 2016-02-12 2022-01-14 58508 ENSG00000055609 OTTHUMG00000150553 AF264750 NM_170606 CCDS5931 Q8NEZ4 "10819331|11718452|29755131" MGI:2444959 RGD:1587205 KMT2C 606833 objectId:2690 2.1.1.364 HGNC:13726 "ENST00000262189.11|NM_170606.3" HGNC:13726 +HGNC:56179 KMT2CP1 lysine methyltransferase 2C pseudogene 1 pseudogene pseudogene Approved 1q21.1 01q21.1 2022-01-14 2022-01-14 101927429 ENSG00000278273 NR_136328 PGOHUM00000296526 +HGNC:56180 KMT2CP2 lysine methyltransferase 2C pseudogene 2 pseudogene pseudogene Approved 1q21.1 01q21.1 2022-01-14 2022-01-14 ENSG00000276756 PGOHUM00000295855 +HGNC:56181 KMT2CP3 lysine methyltransferase 2C pseudogene 3 pseudogene pseudogene Approved 1q21.1 01q21.1 2022-01-14 2022-01-14 ENSG00000274927 PGOHUM00000295838 +HGNC:56182 KMT2CP4 lysine methyltransferase 2C pseudogene 4 pseudogene pseudogene Approved 2p11.2 02p11.2 2022-01-14 2022-01-14 101927050 ENSG00000283132 NR_136329 PGOHUM00000297983 +HGNC:56183 KMT2CP5 lysine methyltransferase 2C pseudogene 5 pseudogene pseudogene Approved 2p11.2 02p11.2 2022-01-14 2022-01-14 107985798 ENSG00000230572 NR_171627 PGOHUM00000297989 +HGNC:7133 KMT2D lysine methyltransferase 2D protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "ALR|MLL4|CAGL114" "histone-lysine N-methyltransferase 2D|ALL1-related" "TNRC21|MLL2" "trinucleotide repeat containing 21|myeloid/lymphoid or mixed-lineage leukemia 2|lysine (K)-specific methyltransferase 2D" "PHD finger proteins|Lysine methyltransferases|SET domain containing" "88|487|1399" 1998-10-14 2013-05-09 2016-02-12 2021-12-14 8085 ENSG00000167548 OTTHUMG00000166524 AF010403 NM_003482 CCDS44873 O14686 "9247308|24240169" MGI:2682319 RGD:2324324 KMT2D 602113 239011 objectId:2691 2.1.1.364 HGNC:7133 "ENST00000301067.12|NM_003482.4" HGNC:7133 +HGNC:18541 KMT2E lysine methyltransferase 2E (inactive) protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "HDCMC04P|SETD5B" MLL5 "myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)|lysine (K)-specific methyltransferase 2E|lysine methyltransferase 2E" "PHD finger proteins|Lysine methyltransferases|SET domain containing" "88|487|1399" 2002-06-07 2013-05-09 2020-03-05 2022-03-07 55904 ENSG00000005483 OTTHUMG00000157403 AF067804 NM_018682 CCDS34723 Q8IZD2 "9218106|7672722|27812132|31079897" MGI:1924825 RGD:1309641 LRG_1404|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1404.xml 608444 objectId:2692 HGNC:18541 "ENST00000311117.8|NM_182931.3" HGNC:18541 +HGNC:40845 KMT2E-AS1 KMT2E antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 LOC100216545 KMT2E antisense RNA 1 (head to head) Antisense RNAs 1987 2013-07-23 2018-03-23 2018-03-23 100216545 ENSG00000239569 OTTHUMG00000157280 NR_024586 HGNC:40845 +HGNC:29489 KMT5A lysine methyltransferase 5A protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SET8|SET07|PR-Set7" SETD8 "SET domain containing (lysine methyltransferase) 8|lysine (K)-specific methyltransferase 5A" "Lysine methyltransferases|SET domain containing" "487|1399" 2006-02-15 2015-11-05 2016-02-12 2022-01-10 387893 ENSG00000183955 OTTHUMG00000150477 uc001uew.4 AY102937 NM_020382 CCDS9247 Q9NQR1 "15933070|12086618|12121615|18022353" MGI:1915206 RGD:1587560 607240 objectId:2704 HGNC:29489 "ENST00000402868.8|NM_020382.7" +HGNC:30088 KMT5AP1 KMT5A pseudogene 1 pseudogene pseudogene Approved 13q11 13q11 SET07p SETD8P1 SET domain containing 8 pseudogene 1 2007-08-17 2018-12-21 2018-12-21 2018-12-21 57108 ENSG00000279730 OTTHUMG00000191380 NG_003193 PGOHUM00000292060 HGNC:30088 +HGNC:54727 KMT5AP2 KMT5A pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-18 2019-12-18 100421788 ENSG00000232531 NG_023587 +HGNC:54728 KMT5AP3 KMT5A pseudogene 3 pseudogene pseudogene Approved 3q26.2 03q26.2 2019-12-18 2019-12-18 100421819 ENSG00000242583 NG_025767 +HGNC:24283 KMT5B lysine methyltransferase 5B protein-coding gene gene with protein product Approved 11q13.2 11q13.2 CGI-85 Histone-lysine N-methyltransferase SUV420H1 "suppressor of variegation 4-20 homolog 1 (Drosophila)|lysine (K)-specific methyltransferase 5B" Lysine methyltransferases 487 2004-07-13 2015-11-05 2016-02-12 2022-01-17 51111 ENSG00000110066 OTTHUMG00000150484 uc001onm.2 AL512763 NM_017635 "CCDS86221|CCDS31623|CCDS76444|CCDS44660" Q4FZB7 "10810093|11401438|18022353" MGI:2444557 RGD:1311637 610881 470574 objectId:2717 2.1.1.362 HGNC:24283 "ENST00000304363.9|NM_017635.5" HGNC:24283 +HGNC:28405 KMT5C lysine methyltransferase 5C protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC2705 SUV420H2 "suppressor of variegation 4-20 homolog 2 (Drosophila)|lysine (K)-specific methyltransferase 5C" "Lysine methyltransferases|SET domain containing" "487|1399" 2004-07-13 2015-11-05 2016-02-12 2022-01-10 84787 ENSG00000133247 OTTHUMG00000150483 uc002qkj.5 BC005842 NM_032701 CCDS12922 Q86Y97 "19486527|18022353" MGI:2385262 RGD:1305226 613198 objectId:2718 HGNC:28405 "ENST00000255613.8|NM_032701.4" +HGNC:26488 KNCN kinocilin protein-coding gene gene with protein product Approved 1p33 01p33 "FLJ32011|KINO|L5" 2007-06-08 2006-10-26 2014-02-12 148930 ENSG00000162456 OTTHUMG00000007987 uc009vyh.2 AK056573 NM_182516 "CCDS44133|CCDS81316" A6PVL3 15855039 MGI:3614952 RGD:1584061 611455 HGNC:26488 "ENST00000481882.7|NM_001322255.2" +HGNC:29374 KNDC1 kinase non-catalytic C-lobe domain containing 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "KIAA1768|bB439H18.3|FLJ25027|Very-KIND|v-KIND" "RASGEF2|C10orf23" "RasGEF domain family, member 2|kinase non-catalytic C-lobe domain (KIND) containing 1" 2004-03-16 2016-06-21 2018-01-26 85442 ENSG00000171798 OTTHUMG00000019303 uc001llz.2 AK074179 NM_152643 CCDS7674 Q76NI1 "11214970|28264072" MGI:1923734 RGD:1565261 616237 470576 HGNC:29374 "ENST00000304613.8|NM_152643.8" +HGNC:6383 KNG1 kininogen 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "BK|HMWK" "alpha-2-thiol proteinase inhibitor|bradykinin|high-molecular-weight kininogen" "KNG|BDK|HK" kininogen "Cystatins, type 3|Neuropeptides" "967|1902" 1990-07-26 2004-05-26 2004-05-21 2022-01-12 3827 ENSG00000113889 OTTHUMG00000150348 uc003fqr.4 NM_001102416 "CCDS54695|CCDS43183|CCDS3281" P01042 1733668 "MGI:1097705|MGI:3027157" RGD:2980 LRG_598|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_598.xml 612358 122875 ligandId:639 HGNC:6383 "ENST00000644859.2|NM_001102416.3" HGNC:6383 +HGNC:24054 KNL1 kinetochore scaffold 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "D40|AF15Q14|CT29|KIAA1570|hKNL-1|hSpc105|PPP1R55|Spc7" "cancer/testis antigen 29|kinetochore null 1 homolog (C. elegans)|blinkin, bub-linking kinetochore protein|protein phosphatase 1, regulatory subunit 55" "MCPH4|CASC5" "microcephaly, primary autosomal recessive 4|cancer susceptibility candidate 5" "Protein phosphatase 1 regulatory subunits|KNL1 complex" "694|1575" 2005-04-05 2016-06-13 2016-06-13 2016-10-05 57082 ENSG00000137812 OTTHUMG00000166532 uc010bbs.2 AF173994 NM_144508 "CCDS42023|CCDS42024" Q8NG31 "10980622|10780384|18045986" MGI:1923714 RGD:6494213 KNL1 609173 315787 HGNC:24054 "ENST00000399668.7|NM_144508.5" HGNC:24054 +HGNC:34404 KNOP1 lysine rich nucleolar protein 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "101F10.1|FAM191A|TSG118" "family with sequence similarity 191, member A|testis-specific gene 118" C16orf88 chromosome 16 open reading frame 88 2008-07-11 2013-03-12 2016-06-06 2016-11-16 400506 ENSG00000103550 OTTHUMG00000177249 uc002dgq.4 BC047010 NM_001012991 CCDS42127 Q1ED39 MGI:1913606 RGD:1565096 HGNC:34404 "ENST00000219837.12|NM_001012991.3" +HGNC:48919 KNOP1P1 lysine rich nucleolar protein 1 pseudogene 1 pseudogene pseudogene Approved 12p12.1 12p12.1 2013-07-05 2016-06-06 2016-06-06 100129937 ENSG00000256852 OTTHUMG00000169059 NG_029610 PGOHUM00000251017 HGNC:48919 +HGNC:48920 KNOP1P2 lysine rich nucleolar protein 1 pseudogene 2 pseudogene pseudogene Approved 12q12 12q12 2013-07-05 2016-06-06 2016-06-06 100420898 ENSG00000270429 OTTHUMG00000184793 NG_052800 PGOHUM00000239432 HGNC:48920 +HGNC:48921 KNOP1P3 lysine rich nucleolar protein 1 pseudogene 3 pseudogene pseudogene Approved 2p16.3 02p16.3 2013-07-05 2016-06-06 2016-06-06 100128029 ENSG00000224344 OTTHUMG00000102135 NG_021563 PGOHUM00000240640 HGNC:48921 +HGNC:48922 KNOP1P4 lysine rich nucleolar protein 1 pseudogene 4 pseudogene pseudogene Approved 6q13 06q13 2013-07-05 2016-06-06 2016-06-06 100420843 ENSG00000232422 OTTHUMG00000015016 NG_025954 PGOHUM00000243671 HGNC:48922 +HGNC:48923 KNOP1P5 lysine rich nucleolar protein 1 pseudogene 5 pseudogene pseudogene Approved 8q24.13 08q24.13 2013-07-05 2016-06-06 2016-06-06 100130158 ENSG00000250563 OTTHUMG00000160537 NG_022436 PGOHUM00000249796 HGNC:48923 +HGNC:30767 KNSTRN kinetochore localized astrin (SPAG5) binding protein protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "FLJ14502|SKAP|kinastrin|TRAF4AF1" "small kinetochore-associated protein|kinetochore-localized astrin-binding protein|TRAF4 associated factor 1" C15orf23 "chromosome 15 open reading frame 23|kinetochore localized astrin/SPAG5 binding protein" 2004-06-25 2012-12-04 2018-02-23 2018-06-04 90417 ENSG00000128944 OTTHUMG00000172454 uc001zll.4 AK027408 NM_001142761 "CCDS45227|CCDS45226|CCDS42021" Q9Y448 25194279 MGI:1289298 RGD:1303240 614718 HGNC:30767 "ENST00000249776.13|NM_033286.4" +HGNC:17255 KNTC1 kinetochore associated 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA0166|ROD" rough deal homolog (Drosophila) RZZ complex 1933 2001-12-19 2015-08-28 9735 ENSG00000184445 OTTHUMG00000168861 uc001ucv.4 NM_014708 CCDS45002 P50748 "11146660|11590237" MGI:2673709 RGD:1307905 607363 HGNC:17255 "ENST00000333479.12|NM_014708.6" +HGNC:6394 KPNA1 karyopherin subunit alpha 1 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "SRP1|RCH2|NPI-1|IPOA5" importin alpha 5 "karyopherin alpha 1 (importin alpha 5)|karyopherin alpha 1" "Armadillo repeat containing|Importins" "409|596" 1997-03-19 2016-02-01 2016-10-05 3836 ENSG00000114030 OTTHUMG00000159487 uc003efe.3 S75295 NM_002264 CCDS3013 P52294 8052633 MGI:103560 RGD:735064 600686 470578 HGNC:6394 "ENST00000344337.11|NM_002264.4" +HGNC:6395 KPNA2 karyopherin subunit alpha 2 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "SRP1alpha|IPOA1|QIP2" "RAG cohort 1|importin alpha 1" RCH1 "karyopherin alpha 2 (RAG cohort 1, importin alpha 1)|karyopherin alpha 2" "Armadillo repeat containing|Importins" "409|596" 1997-03-19 2016-02-01 2019-08-21 3838 ENSG00000182481 OTTHUMG00000179784 uc002jgk.4 U09559 NM_002266 CCDS32713 P52292 "8016130|7754385" MGI:103561 RGD:621419 600685 HGNC:6395 "ENST00000330459.8|NM_002266.4" +HGNC:52871 KPNA2P1 karyopherin subunit alpha 2 pseudogene 1 pseudogene pseudogene Approved 4q21.21 04q21.21 2016-12-14 2016-12-14 643513 ENSG00000236530 OTTHUMG00000151983 NG_022064 PGOHUM00000300271 HGNC:52871 +HGNC:52872 KPNA2P2 karyopherin subunit alpha 2 pseudogene 2 pseudogene pseudogene Approved 7q21.13 07q21.13 2016-12-14 2016-12-14 645680 ENSG00000228928 OTTHUMG00000154417 NG_009427 PGOHUM00000302342 HGNC:52872 +HGNC:52870 KPNA2P3 karyopherin subunit alpha 2 pseudogene 3 pseudogene pseudogene Approved 17q24.1 17q24.1 2016-12-14 2016-12-14 109286552 ENSG00000266820 OTTHUMG00000179292 NG_052569 HGNC:52870 +HGNC:6396 KPNA3 karyopherin subunit alpha 3 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "SRP1gamma|SRP4|hSRP1|IPOA4" "importin alpha 4|importin subunit alpha-4" "karyopherin alpha 3 (importin alpha 4)|karyopherin alpha 3" "Armadillo repeat containing|Importins" "409|596" 1997-03-19 2016-02-01 2016-10-05 3839 ENSG00000102753 OTTHUMG00000016922 uc001vdj.2 D89618 NM_002267 CCDS9421 O00505 "9154134|9435235" MGI:1100863 RGD:1311339 601892 HGNC:6396 "ENST00000261667.8|NM_002267.4" +HGNC:6397 KPNA4 karyopherin subunit alpha 4 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "QIP1|SRP3|IPOA3|MGC12217|MGC26703" importin alpha 3 "karyopherin alpha 4 (importin alpha 3)|karyopherin alpha 4" "Armadillo repeat containing|Importins" "409|596" 1998-08-20 2016-02-01 2016-02-01 3840 ENSG00000186432 OTTHUMG00000159033 uc003fdn.3 AB002533 NM_002268 CCDS3191 O00629 "9168958|9395085" MGI:1100848 RGD:1311483 602970 HGNC:6397 "ENST00000334256.9|NM_002268.5" +HGNC:54976 KPNA4P1 KPNA4 pseudogene 1 pseudogene pseudogene Approved Xq11.2 Xq11.2 2020-05-13 2020-05-13 100421109 ENSG00000213754 NG_026710 +HGNC:6398 KPNA5 karyopherin subunit alpha 5 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "SRP6|IPOA6" importin alpha 6 "karyopherin alpha 5 (importin alpha 6)|karyopherin alpha 5" "Armadillo repeat containing|Importins" "409|596" 1998-08-24 2016-02-01 2016-10-05 3841 ENSG00000196911 OTTHUMG00000015448 uc003pxh.4 AF005361 NM_002269 CCDS5111 O15131 9395085 RGD:1561324 604545 HGNC:6398 "ENST00000368564.7|NM_001366306.2" +HGNC:6399 KPNA6 karyopherin subunit alpha 6 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "IPOA7|KPNA7|MGC17918|FLJ11249" importin alpha 7 "karyopherin alpha 6 (importin alpha 7)|karyopherin alpha 6" "Armadillo repeat containing|Importins" "409|596" 1999-12-14 2016-02-01 2016-10-05 23633 ENSG00000025800 OTTHUMG00000004333 uc001bug.4 AF060543 NM_012316 CCDS352 O60684 10523667 MGI:1100836 RGD:1306570 610563 HGNC:6399 "ENST00000373625.8|NM_012316.5" +HGNC:21839 KPNA7 karyopherin subunit alpha 7 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 IPOA8 importin alpha 8 "karyopherin alpha 7 (importin alpha 8)|karyopherin alpha 7" "Armadillo repeat containing|Importins" "409|596" 2009-04-07 2016-02-01 2016-02-01 402569 ENSG00000185467 OTTHUMG00000154412 uc010lft.3 NM_001145715 CCDS47651 A9QM74 MGI:2141165 RGD:1594749 614107 404154 HGNC:21839 "ENST00000327442.7|NM_001145715.3" HGNC:21839 +HGNC:6400 KPNB1 karyopherin subunit beta 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "NTF97|IPOB|MGC2155|MGC2156|MGC2157|IMB1|Impnb|IPO1" importin 1 karyopherin (importin) beta 1 "Armadillo repeat containing|Importins" "409|596" 1997-04-21 2016-02-01 2016-02-01 3837 ENSG00000108424 OTTHUMG00000036957 uc002ilt.3 L39793 NM_002265 "CCDS62228|CCDS11513" Q14974 "7615630|7627554" MGI:107532 RGD:2909 602738 HGNC:6400 "ENST00000290158.9|NM_002265.6" +HGNC:55336 KPNB1-DT KPNB1 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Divergent transcripts 1990 2020-10-21 2020-10-21 112268184 ENSG00000263766 NR_171699 +HGNC:55029 KPNB1P1 KPNB1 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-28 2020-05-28 100131072 ENSG00000234889 NG_022625 +HGNC:31823 KPRP keratinocyte proline rich protein protein-coding gene gene with protein product Approved 1q21.3 01q21.3 C1orf45 "chromosome 1 open reading frame 45|keratinocyte proline-rich protein" 2004-09-16 2006-12-07 2016-01-21 2016-01-21 448834 ENSG00000203786 OTTHUMG00000012402 uc057lai.1 AY960854 NM_001025231 CCDS30862 Q5T749 16297201 MGI:1920981 RGD:1303244 613260 HGNC:31823 +HGNC:6404 KPTN kaptin, actin binding protein protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "2E4|KICS4" kaptin (actin-binding protein) KICSTOR complex 1393 1999-08-27 2016-06-13 2021-02-08 11133 ENSG00000118162 OTTHUMG00000183443 uc002pgy.4 AF105369 NM_001291296 CCDS42583 Q9Y664 10099934 MGI:1890380 RGD:1310341 615620 400629 HGNC:6404 "ENST00000338134.8|NM_007059.4" HGNC:6404 +HGNC:6407 KRAS KRAS proto-oncogene, GTPase protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "KRAS1|K-Ras4B" KRAS2 "v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog|v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog|Kirsten rat sarcoma viral oncogene homolog" RAS type GTPase family 389 1988-06-02 2005-01-24 2016-05-10 2021-05-26 3845 ENSG00000133703 OTTHUMG00000171193 uc001rgp.3 BC010502 NM_033360 "CCDS8703|CCDS8702" P01116 MGI:96680 RGD:2981 LRG_344|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_344.xml KRAS 190070 122879 objectId:2824 HGNC:6407 "ENST00000311936.8|NM_004985.5" HGNC:6407 +HGNC:6406 KRASP1 KRAS proto-oncogene, GTPase pseudogene 1 pseudogene pseudogene Approved 6p12.1 06p12.1 KRAS1P v-Ki-ras1 Kirsten rat sarcoma 1 viral oncogene homolog, processed pseudogene 2001-06-22 2010-07-21 2016-05-12 2016-11-30 3844 ENSG00000220635 OTTHUMG00000014897 K01912 NG_001154 6308466 PGOHUM00000250209 KRASP1 HGNC:6406 +HGNC:22228 KRBA1 KRAB-A domain containing 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 KIAA1862 KRAB A domain containing 1 2006-08-14 2006-08-15 2021-04-27 84626 ENSG00000133619 OTTHUMG00000157886 uc033aph.2 AB058765 NM_032534 "CCDS78285|CCDS75674" A5PL33 MGI:1925077 RGD:1306967 HGNC:22228 "ENST00000496259.6|NM_001290187.2" +HGNC:26989 KRBA2 KRAB-A domain containing 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KRAB A domain containing 2 2006-08-15 2006-08-15 2021-04-27 124751 ENSG00000184619 OTTHUMG00000132864 uc002glf.1 BC024723 NM_213597 "CCDS11141|CCDS76951" Q6ZNG9 23550032 HGNC:26989 "ENST00000396267.3|NM_001304947.3" +HGNC:38708 KRBOX1 KRAB box domain containing 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 2010-07-29 2010-07-29 2021-04-27 100506243 ENSG00000240747 OTTHUMG00000186062 uc062ish.1 NM_001205272 CCDS54572 C9JBD0 RGD:2321744 HGNC:38708 "ENST00000383748.9|NM_001205272.2" +HGNC:42942 KRBOX1-AS1 KRBOX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 FLJ32776 KRBOX1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-07 2012-08-15 2012-10-12 100506275 ENSG00000206552 OTTHUMG00000156447 uc062ist.1 AK057338 XR_110049 KRBOX1-AS1 HGNC:42942 +HGNC:26007 KRBOX4 KRAB box domain containing 4 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 FLJ20344 hypothetical protein FLJ20344 ZNF673 "zinc finger protein 673|zinc finger family member 673" 2005-03-26 2013-01-08 2013-01-08 2021-04-27 55634 ENSG00000147121 OTTHUMG00000021421 uc004dgm.5 NM_017776 "CCDS48097|CCDS48098|CCDS14267" Q5JUW0 11944989 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KRBOX4 300585 470580 HGNC:26007 "ENST00000344302.9|NM_001129898.2" +HGNC:26987 KRBOX5 KRAB box domain containing 5 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 ZNF720 zinc finger protein 720 2006-01-17 2021-08-10 2021-08-10 2021-08-10 124411 ENSG00000197302 OTTHUMG00000167515 uc002ecn.5 AK128671 NM_001004300 CCDS45473 Q7Z2F6 "16606703|20081217" HGNC:26987 "ENST00000316491.14|NM_001130913.2" +HGNC:34505 KRBOX5P1 KRBOX5 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 ZNF720P1 zinc finger protein 720 pseudogene 1 2008-08-06 2021-08-10 2021-08-10 2021-08-10 342426 ENSG00000260010 OTTHUMG00000176627 NG_008699 PGOHUM00000259049 HGNC:34505 +HGNC:28039 KRCC1 lysine rich coiled-coil 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 FLJ22333 2006-08-15 2016-06-06 2016-06-06 51315 ENSG00000172086 OTTHUMG00000130315 uc002sso.1 AF208845 NM_016618 CCDS2000 Q9NPI7 12477932 MGI:1889377 RGD:1306495 HGNC:28039 "ENST00000347055.4|NM_016618.3" +HGNC:17550 KREMEN1 kringle containing transmembrane protein 1 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 KRM1 KREMEN kringle containing transmembrane protein 2002-04-22 2002-11-15 2002-11-13 2016-04-25 83999 ENSG00000183762 OTTHUMG00000030987 uc011akm.2 AB059618 NM_001039570 "CCDS13849|CCDS43000" Q96MU8 11267660 MGI:1933988 RGD:620789 609898 ligandId:3702 HGNC:17550 "ENST00000400335.9|NM_001039570.3" HGNC:17550 +HGNC:18797 KREMEN2 kringle containing transmembrane protein 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MGC10791|KRM2" 2002-06-20 2016-10-05 79412 ENSG00000131650 OTTHUMG00000128976 uc002csg.4 BC003533 NM_145347 "CCDS58412|CCDS10484|CCDS10483|CCDS58413" Q8NCW0 12050670 MGI:1920266 RGD:1310795 609899 ligandId:3703 HGNC:18797 "ENST00000303746.10|NM_172229.3" +HGNC:25769 KRI1 KRI1 homolog protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ12949 KRI1 homolog (S. cerevisiae) 2007-08-02 2015-07-03 2015-07-03 65095 ENSG00000129347 OTTHUMG00000150343 uc002moy.2 NM_023008 CCDS12242 Q8N9T8 12878157 MGI:2384899 RGD:1588903 HGNC:25769 "ENST00000312962.12|NM_023008.5" +HGNC:1573 KRIT1 KRIT1 ankyrin repeat containing protein-coding gene gene with protein product Approved 7q21.2 07q21.2 CAM Krev interaction trapped 1 CCM1 "cerebral cavernous malformations 1|KRIT1, ankyrin repeat containing" "Ankyrin repeat domain containing|FERM domain containing|MicroRNA protein coding host genes|CCM adhesion complex" "403|1293|1691|1940" 1995-06-02 2005-03-17 2019-01-25 2021-12-06 889 ENSG00000001631 OTTHUMG00000131187 uc003ulu.1 AJ294850 NM_001013406 "CCDS34679|CCDS5624" O00522 "7604043|11342228" MGI:1930618 RGD:1305929 LRG_650|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_650.xml 604214 122883 HGNC:1573 "ENST00000394505.7|NM_194454.3" HGNC:1573 +HGNC:5176 KRR1 KRR1 small subunit processome component homolog protein-coding gene gene with protein product Approved 12q21.2 12q21.2 RIP-1 HRB2 "HIV-1 rev binding protein 2|KRR1, small subunit (SSU) processome component, homolog (yeast)|KRR1, small subunit processome component homolog" SSU processome 1484 1999-12-09 2006-05-18 2019-01-25 2019-01-25 11103 ENSG00000111615 OTTHUMG00000169759 uc001sxt.4 U55766 NM_007043 CCDS9012 Q13601 "7505766|11027267|11359931|8675026" MGI:1289274 RGD:1306183 612817 HGNC:5176 "ENST00000229214.9|NM_007043.7" +HGNC:39580 KRR1P1 KRR1 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 "KRR1, small subunit (SSU) processome component, homolog (yeast) pseudogene 1|KRR1, small subunit processome component homolog pseudogene 1" 2011-03-15 2019-01-25 2019-01-25 100422486 ENSG00000237672 OTTHUMG00000016505 NG_023348 PGOHUM00000248314 HGNC:39580 +HGNC:6412 KRT1 keratin 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KRT1A EHK1 "epidermolytic hyperkeratosis 1|keratin 1, type II" Keratins, type II 609 1991-09-12 2016-03-09 2021-05-26 3848 ENSG00000167768 OTTHUMG00000169749 uc001sau.1 X69725 NM_006121 CCDS8836 P04264 "2461420|2470667|16831889" MGI:96698 RGD:1359664 139350 122887 HGNC:6412 HGNC:6412 "ENST00000252244.3|NM_006121.4" HGNC:6412 +HGNC:6439 KRT2 keratin 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KRTE epidermal ichthyosis bullosa of Siemens KRT2A "keratin 2A (epidermal ichthyosis bullosa of Siemens)|keratin 2, type II" Keratins, type II 609 1995-05-30 2006-07-17 2016-03-09 2021-05-26 3849 ENSG00000172867 OTTHUMG00000169748 uc001sat.4 NM_000423 CCDS8835 P35908 "7524919|16831889" MGI:96699 RGD:1303297 600194 122907 HGNC:6439 HGNC:6439 "ENST00000309680.4|NM_000423.3" HGNC:6439 +HGNC:6440 KRT3 keratin 3 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "CK3|K3" "keratin, type II cytoskeletal 3|cytokeratin 3" Keratins, type II 609 1992-12-04 2016-03-09 2021-05-26 3850 ENSG00000186442 OTTHUMG00000169799 uc001say.4 NM_057088 CCDS44895 P12035 "7510223|16831889" 148043 122911 HGNC:6440 HGNC:6440 "ENST00000417996.2|NM_057088.3" HGNC:6440 +HGNC:6441 KRT4 keratin 4 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "CK4|K4" "cytokeratin 4|keratin, type II cytoskeletal 4" CYK4 CYK4 Keratins, type II 609 2001-06-22 2016-03-09 2021-05-26 3851 ENSG00000170477 OTTHUMG00000169800 uc031qhk.2 NM_002272 CCDS41787 P19013 16831889 MGI:96701 RGD:1359272 123940 181135 HGNC:6441 HGNC:6441 "ENST00000551956.2|NM_002272.4" HGNC:6441 +HGNC:6442 KRT5 keratin 5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "KRT5A|CK-5" EBS2 "epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types|keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)|keratin 5, type II" Keratins, type II 609 1991-09-12 2016-03-09 2022-02-09 3852 ENSG00000186081 OTTHUMG00000169657 uc001san.4 NM_000424 CCDS8830 P13647 "1713141|16831889" MGI:96702 RGD:727894 148040 122913 HGNC:6442 HGNC:6442 "ENST00000252242.9|NM_000424.4" HGNC:6442 +HGNC:6443 KRT6A keratin 6A protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "CK6C|K6C|CK6D|K6D" "KRT6C|KRT6D" "keratin 6C|keratin 6D|keratin 6A, type II" Keratins, type II 609 1991-09-12 2016-03-09 2021-05-26 3853 ENSG00000205420 OTTHUMG00000169597 uc001sam.4 "BC014152|L42593|L42610" NM_005554 CCDS41786 P02538 "1713141|16831889" "MGI:1100845|MGI:1333768" LRG_1294|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1294.xml 148041 122917 HGNC:6443 HGNC:6443 "ENST00000330722.7|NM_005554.4" HGNC:6443 +HGNC:6444 KRT6B keratin 6B protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KRTL1 "keratin-like 1 (a type II keratin sequence)|keratin 6B, type II" Keratins, type II 609 1991-09-12 2016-03-09 2021-05-26 3854 ENSG00000185479 OTTHUMG00000169593 uc001sak.3 BC034535 NM_005555 CCDS8828 P04259 "1713141|16831889" "MGI:1100845|MGI:1333768" 148042 122925 HGNC:6444 HGNC:6444 "ENST00000252252.4|NM_005555.4" HGNC:6444 +HGNC:20406 KRT6C keratin 6C protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KRT6E "keratin 6E|keratin 6C, type II" Keratins, type II 609 2003-02-04 2006-07-17 2016-03-09 2021-05-26 286887 ENSG00000170465 OTTHUMG00000169596 uc001sal.4 L42611 NM_173086 CCDS8829 P48668 "7543104|16831889" "MGI:1100845|MGI:1333768" RGD:1565564 612315 225368 HGNC:20406 HGNC:20406 "ENST00000252250.7|NM_173086.5" HGNC:20406 +HGNC:6445 KRT7 keratin 7 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "K7|CK7|CK-7|K2C7|SCL" "keratin, type II cytoskeletal 7|cytokeratin 7|sarcolectin|keratin, 55K type II cytoskeletal" keratin 7, type II Keratins, type II 609 1991-09-12 2016-03-09 2022-02-09 3855 ENSG00000135480 OTTHUMG00000169580 uc001saa.2 NM_005556 CCDS8822 P08729 "1713141|16831889" MGI:96704 RGD:1310865 148059 HGNC:6445 HGNC:6445 "ENST00000331817.6|NM_005556.4" +HGNC:52643 KRT7-AS KRT7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Antisense RNAs 1987 2016-11-18 2018-08-23 109729127 ENSG00000257671 OTTHUMG00000169581 NR_146274 26876208 HGNC:52643 +HGNC:6446 KRT8 keratin 8 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "CARD2|K8|CK8|CK-8|CYK8|K2C8|KO" keratin 8, type II Keratins, type II 609 1988-08-12 2016-03-09 2022-02-09 3856 ENSG00000170421 OTTHUMG00000169881 uc009zmm.3 BC000654 NM_002273 "CCDS8841|CCDS58234" P05787 "2434381|1705144|16831889" MGI:96705 RGD:2984 148060 HGNC:6446 HGNC:6446 HGNC:6446 +HGNC:20281 KRT8P1 keratin 8 pseudogene 1 pseudogene pseudogene Approved 14q21.1 14q21.1 2003-01-17 2020-04-20 338017 ENSG00000258948 OTTHUMG00000170692 NG_007444 PGOHUM00000248140 HGNC:20281 +HGNC:20282 KRT8P2 keratin 8 pseudogene 2 pseudogene pseudogene Approved 14q21.2 14q21.2 OTTHUMG00000135122 2003-01-17 2020-04-20 390472 ENSG00000258828 OTTHUMG00000170707 NG_029068 PGOHUM00000247783 HGNC:20282 +HGNC:31056 KRT8P3 keratin 8 pseudogene 3 pseudogene pseudogene Approved 8q12.3 08q12.3 2004-02-03 2012-10-16 728638 ENSG00000254285 OTTHUMG00000164401 NG_013210 PGOHUM00000261521 HGNC:31056 +HGNC:31057 KRT8P4 keratin 8 pseudogene 4 pseudogene pseudogene Approved 8q21.3 08q21.3 2004-02-03 2013-09-05 100509857 ENSG00000248231 OTTHUMG00000160489 NG_042265 PGOHUM00000267749 HGNC:31057 +HGNC:31094 KRT8P5 keratin 8 pseudogene 5 pseudogene pseudogene Approved 18q12.3 18q12.3 2004-02-03 2014-11-18 342732 ENSG00000267573 OTTHUMG00000178346 NT_010966 PGOHUM00000261252 HGNC:31094 +HGNC:33360 KRT8P6 keratin 8 pseudogene 6 pseudogene pseudogene Approved Xq26.3 Xq26.3 2007-03-14 2014-11-18 392552 ENSG00000214930 OTTHUMG00000022528 NG_021118 PGOHUM00000241575 HGNC:33360 +HGNC:33361 KRT8P7 keratin 8 pseudogene 7 pseudogene pseudogene Approved 11q23.3 11q23.3 2007-03-14 2014-11-19 729131 ENSG00000230716 OTTHUMG00000166175 NT_033899 PGOHUM00000261118 HGNC:33361 +HGNC:33362 KRT8P8 keratin 8 pseudogene 8 pseudogene pseudogene Approved Xq28 Xq28 2007-03-14 2011-04-06 402429 ENSG00000223940 OTTHUMG00000024182 NT_011726 PGOHUM00000242083 HGNC:33362 +HGNC:33363 KRT8P9 keratin 8 pseudogene 9 pseudogene pseudogene Approved 15q23 15q23 2007-03-15 2007-03-15 2012-10-16 390601 ENSG00000259470 OTTHUMG00000172183 NT_010194 PGOHUM00000261191 HGNC:33363 +HGNC:33364 KRT8P10 keratin 8 pseudogene 10 pseudogene pseudogene Approved 2q32.1 02q32.1 2007-03-15 2014-11-19 344320 ENSG00000231203 OTTHUMG00000154237 NT_005403 PGOHUM00000261347 HGNC:33364 +HGNC:31058 KRT8P11 keratin 8 pseudogene 11 pseudogene pseudogene Approved 9q22.33 09q22.33 RP11-13B9.3 KRT8L1 keratin 8-like 1 2004-05-27 2007-03-14 2007-03-14 2012-10-03 347265 ENSG00000255815 OTTHUMG00000020356 NT_008470 HGNC:31058 +HGNC:28057 KRT8P12 keratin 8 pseudogene 12 pseudogene pseudogene Approved 3q25.33 03q25.33 KRT8L2 keratin 8-like 2 2005-04-22 2007-03-14 2007-03-14 2016-10-05 90133 ENSG00000229320 OTTHUMG00000159030 NT_005612 PGOHUM00000267739 HGNC:28057 +HGNC:33365 KRT8P13 keratin 8 pseudogene 13 pseudogene pseudogene Approved 3q26.2 03q26.2 2007-03-15 2014-11-19 730023 ENSG00000241416 OTTHUMG00000158860 NT_005612 PGOHUM00000261378 HGNC:33365 +HGNC:33366 KRT8P14 keratin 8 pseudogene 14 pseudogene pseudogene Approved Xp11.3 Xp11.3 2007-03-15 2014-11-19 347333 ENSG00000214282 OTTHUMG00000021407 NT_079573 PGOHUM00000261801 HGNC:33366 +HGNC:33367 KRT8P15 keratin 8 pseudogene 15 pseudogene pseudogene Approved 2q33.2 02q33.2 2007-03-15 2016-10-05 645834 ENSG00000233579 OTTHUMG00000154529 NT_005403 PGOHUM00000261349 HGNC:33367 +HGNC:33368 KRT8P16 keratin 8 pseudogene 16 pseudogene pseudogene Approved 10p14 10p14 2007-03-15 2012-10-10 220959 NG_006099 HGNC:33368 +HGNC:33369 KRT8P17 keratin 8 pseudogene 17 pseudogene pseudogene Approved Xp11.21 Xp11.21 2007-03-15 2011-04-06 392479 ENSG00000235124 OTTHUMG00000021690 NT_011630 PGOHUM00000241802 HGNC:33369 +HGNC:33370 KRT8P18 keratin 8 pseudogene 18 pseudogene pseudogene Approved 3p22.3 03p22.3 2007-03-15 2014-11-19 442078 ENSG00000228767 OTTHUMG00000155763 NT_022517 PGOHUM00000261367 HGNC:33370 +HGNC:33371 KRT8P19 keratin 8 pseudogene 19 pseudogene pseudogene Approved 12q14.1 12q14.1 2007-03-15 2014-11-19 644998 ENSG00000257528 OTTHUMG00000170204 NG_009706 PGOHUM00000261144 HGNC:33371 +HGNC:33372 KRT8P20 keratin 8 pseudogene 20 pseudogene pseudogene Approved 7p14.1 07p14.1 2007-03-15 2014-11-19 441218 ENSG00000227404 OTTHUMG00000155103 NT_007819 PGOHUM00000261482 HGNC:33372 +HGNC:33373 KRT8P21 keratin 8 pseudogene 21 pseudogene pseudogene Approved 1p31.1 01p31.1 2007-03-15 2014-11-18 126811 ENSG00000229636 OTTHUMG00000009547 NG_009686 PGOHUM00000261307 HGNC:33373 +HGNC:33374 KRT8P22 keratin 8 pseudogene 22 pseudogene pseudogene Approved 16q23.1 16q23.1 2007-03-15 2014-11-19 342419 ENSG00000260731 OTTHUMG00000176849 NT_010498 PGOHUM00000261212 HGNC:33374 +HGNC:33375 KRT8P23 keratin 8 pseudogene 23 pseudogene pseudogene Approved 15q24.3 15q24.3 2007-03-15 2012-10-16 390610 ENSG00000259565 OTTHUMG00000172602 NT_010194 PGOHUM00000261176 HGNC:33375 +HGNC:33376 KRT8P24 keratin 8 pseudogene 24 pseudogene pseudogene Approved 15q21.1 15q21.1 2007-03-15 2012-10-16 729344 ENSG00000259500 OTTHUMG00000172162 NT_010194 PGOHUM00000261189 HGNC:33376 +HGNC:33377 KRT8P25 keratin 8 pseudogene 25 pseudogene pseudogene Approved 3p11.2 03p11.2 2007-03-15 2011-04-06 402134 ENSG00000239829 OTTHUMG00000158986 NT_022459 PGOHUM00000238092 HGNC:33377 +HGNC:33378 KRT8P26 keratin 8 pseudogene 26 pseudogene pseudogene Approved 11q13.1 11q13.1 2007-03-15 2014-11-19 390211 ENSG00000214659 OTTHUMG00000166591 NT_033903 PGOHUM00000264196 HGNC:33378 +HGNC:33379 KRT8P27 keratin 8 pseudogene 27 pseudogene pseudogene Approved Xq11.2 Xq11.2 2007-03-15 2007-03-15 2011-04-06 442455 ENSG00000226502 OTTHUMG00000021709 NT_011669 PGOHUM00000241813 HGNC:33379 +HGNC:33380 KRT8P28 keratin 8 pseudogene 28 pseudogene pseudogene Approved 1q21.3 01q21.3 2007-03-15 2014-11-19 391099 ENSG00000223810 OTTHUMG00000013050 NT_004487 PGOHUM00000244270 HGNC:33380 +HGNC:33381 KRT8P29 keratin 8 pseudogene 29 pseudogene pseudogene Approved 1q32.1 01q32.1 2007-03-15 2013-09-05 391155 ENSG00000236430 OTTHUMG00000036051 NT_004487 PGOHUM00000267732 HGNC:33381 +HGNC:33382 KRT8P30 keratin 8 pseudogene 30 pseudogene pseudogene Approved 2q35 02q35 2007-03-15 2011-04-06 391485 ENSG00000224928 OTTHUMG00000154667 NT_005403 PGOHUM00000240526 HGNC:33382 +HGNC:39865 KRT8P31 keratin 8 pseudogene 31 pseudogene pseudogene Approved 5q12.1 05q12.1 2011-04-06 2014-11-19 728167 ENSG00000250148 OTTHUMG00000162434 NG_021853 PGOHUM00000235233 HGNC:39865 +HGNC:39866 KRT8P32 keratin 8 pseudogene 32 pseudogene pseudogene Approved 5q15 05q15 2011-04-06 2014-11-19 100289133 ENSG00000250221 OTTHUMG00000162712 NG_021858 PGOHUM00000261400 HGNC:39866 +HGNC:39867 KRT8P33 keratin 8 pseudogene 33 pseudogene pseudogene Approved 5q23.2 05q23.2 2011-04-06 2014-11-19 100418737 ENSG00000250539 OTTHUMG00000162977 NG_042125 PGOHUM00000261401 HGNC:39867 +HGNC:39868 KRT8P34 keratin 8 pseudogene 34 pseudogene pseudogene Approved 17q21.1 17q21.1 2011-04-06 2016-10-05 100418811 ENSG00000264663 OTTHUMG00000179518 NG_026180 PGOHUM00000261232 HGNC:39868 +HGNC:39869 KRT8P35 keratin 8 pseudogene 35 pseudogene pseudogene Approved 3p14.2 03p14.2 2011-04-06 2014-11-19 100418747 ENSG00000242841 OTTHUMG00000158702 NG_025586 PGOHUM00000237641 HGNC:39869 +HGNC:39870 KRT8P36 keratin 8 pseudogene 36 pseudogene pseudogene Approved 3q22.3 03q22.3 2011-04-06 2014-11-18 100418748 ENSG00000240668 OTTHUMG00000159822 NG_025632 PGOHUM00000237786 HGNC:39870 +HGNC:39871 KRT8P37 keratin 8 pseudogene 37 pseudogene pseudogene Approved 10p14 10p14 2011-04-06 2014-11-19 100287325 ENSG00000213771 OTTHUMG00000017647 NG_022138 PGOHUM00000261079 HGNC:39871 +HGNC:39872 KRT8P38 keratin 8 pseudogene 38 pseudogene pseudogene Approved 10q23.31 10q23.31 2011-04-06 2014-11-19 100418799 ENSG00000226358 OTTHUMG00000018697 NG_025532 PGOHUM00000264187 HGNC:39872 +HGNC:39873 KRT8P39 keratin 8 pseudogene 39 pseudogene pseudogene Approved 12q15 12q15 2011-04-06 2014-11-19 100418781 ENSG00000233560 OTTHUMG00000169266 NG_046600 PGOHUM00000261146 HGNC:39873 +HGNC:39874 KRT8P40 keratin 8 pseudogene 40 pseudogene pseudogene Approved 2q31.2 02q31.2 2011-04-06 2014-11-18 100418728 ENSG00000213069 OTTHUMG00000154099 NG_023748 PGOHUM00000241029 HGNC:39874 +HGNC:39875 KRT8P41 keratin 8 pseudogene 41 pseudogene pseudogene Approved 11p15.4 11p15.4 2011-04-06 2014-11-19 283102 ENSG00000213538 OTTHUMG00000165715 NR_027713 PGOHUM00000261120 HGNC:39875 +HGNC:39876 KRT8P42 keratin 8 pseudogene 42 pseudogene pseudogene Approved 6q23.2 06q23.2 2011-04-06 2014-11-18 100418750 ENSG00000220378 OTTHUMG00000015612 NG_025872 PGOHUM00000261425 HGNC:39876 +HGNC:39877 KRT8P43 keratin 8 pseudogene 43 pseudogene pseudogene Approved 6p22.3 06p22.3 2011-04-06 2014-11-19 100289319 ENSG00000218186 OTTHUMG00000014357 NG_022349 PGOHUM00000261428 HGNC:39877 +HGNC:39878 KRT8P44 keratin 8 pseudogene 44 pseudogene pseudogene Approved 6q26 06q26 2011-04-06 2014-11-19 100129958 ENSG00000227913 OTTHUMG00000015969 NG_023305 PGOHUM00000243844 HGNC:39878 +HGNC:39879 KRT8P45 keratin 8 pseudogene 45 pseudogene pseudogene Approved 1q23.1 01q23.1 2011-04-06 2014-11-19 149501 ENSG00000224520 OTTHUMG00000041329 NG_022808 PGOHUM00000261312 HGNC:39879 +HGNC:39880 KRT8P46 keratin 8 pseudogene 46 pseudogene pseudogene Approved 4q24 04q24 2011-04-06 2014-11-19 100418744 ENSG00000248971 OTTHUMG00000161079 NG_025145 PGOHUM00000261380 HGNC:39880 +HGNC:44461 KRT8P47 keratin 8 pseudogene 47 pseudogene pseudogene Approved 1p34.1 01p34.1 2012-10-10 2013-06-25 644743 ENSG00000271647 OTTHUMG00000184285 NG_022720 PGOHUM00000243991 HGNC:44461 +HGNC:48344 KRT8P48 keratin 8 pseudogene 48 pseudogene pseudogene Approved 5q32 05q32 2013-05-09 2013-05-09 100887067 ENSG00000248568 OTTHUMG00000163409 NG_011570 PGOHUM00000235417 HGNC:48344 +HGNC:48345 KRT8P49 keratin 8 pseudogene 49 pseudogene pseudogene Approved 11p15.4 11p15.4 2013-05-09 2013-06-25 643447 ENSG00000271602 OTTHUMG00000184842 NG_021770 PGOHUM00000261105 HGNC:48345 +HGNC:48346 KRT8P50 keratin 8 pseudogene 50 pseudogene pseudogene Approved 15q15.2 15q15.2 2013-05-09 2013-05-09 102724430 ENSG00000260799 OTTHUMG00000176056 NG_044943 PGOHUM00000262903 HGNC:48346 +HGNC:48883 KRT8P51 keratin 8 pseudogene 51 pseudogene pseudogene Approved 7q33 07q33 2013-06-25 2013-06-25 106480676 ENSG00000223657 OTTHUMG00000155656 NG_011846 PGOHUM00000233006 HGNC:48883 +HGNC:54654 KRT8P52 keratin 8 pseudogene 52 pseudogene pseudogene Approved 2q33.2 02q33.2 2019-11-08 2019-11-08 100887068 ENSG00000232479 NG_032745 +HGNC:6447 KRT9 keratin 9 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "EPPK|K9|CK-9" "cytokeratin 9|type I cytoskeletal 9|epidermolytic palmoplantar keratoderma" keratin 9, type I Keratins, type I 608 1994-05-12 2016-03-09 2021-05-26 3857 ENSG00000171403 OTTHUMG00000133599 uc002hxe.5 NM_000226 CCDS32654 P35527 "7512862|16831889" MGI:96696 RGD:628785 Zhejiang University Center for Genetic and Genomic Medicine|http://www.china-hvp.org/LOVD/home.php?select_db=KRT9 607606 122945 HGNC:6447 HGNC:6447 "ENST00000246662.9|NM_000226.4" HGNC:6447 +HGNC:6413 KRT10 keratin 10 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "K10|CK10" "cytokeratin 10|epidermolytic hyperkeratosis" KPP "keratosis palmaris et plantaris|keratin 10, type I" Keratins, type I 608 1988-08-12 2016-03-09 2021-05-26 3858 ENSG00000186395 OTTHUMG00000133368 uc002hvi.4 J04029 NM_000421 CCDS11377 P13645 "2461420|16831889" MGI:96685 RGD:1359092 148080 122891 HGNC:6413 HGNC:6413 "ENST00000269576.6|NM_000421.5" HGNC:6413 +HGNC:28305 KRT10-AS1 KRT10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 MGC21518 TMEM99 "transmembrane protein 99|transmembrane protein 99 (putative)" Antisense RNAs 1987 2005-12-16 2021-03-08 2021-03-08 2021-03-08 147184 ENSG00000167920 OTTHUMG00000133579 uc002hvj.2 AK097454 NR_160886 Q8N816 29561261 HGNC:28305 +HGNC:6414 KRT12 keratin 12 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 K12 Meesmann corneal dystrophy keratin 12, type I Keratins, type I 608 1997-07-22 2016-03-09 2021-05-26 3859 ENSG00000187242 OTTHUMG00000133369 uc002hvk.3 NM_000223 CCDS11378 Q99456 "9171831|16831889" MGI:96687 RGD:1304805 LRG_1343|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1343.xml 601687 122894 HGNC:6414 HGNC:6414 "ENST00000251643.5|NM_000223.4" HGNC:6414 +HGNC:6415 KRT13 keratin 13 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "K13|CK13|MGC3781|MGC161462" "keratin, type I cytoskeletal 13|cytokeratin 13" keratin 13, type I Keratins, type I 608 1990-11-05 2016-03-09 2021-05-26 3860 ENSG00000171401 OTTHUMG00000133434 uc002hwu.2 NM_153490 "CCDS11396|CCDS11397" P13646 16831889 MGI:101925 RGD:1302937 148065 181140 HGNC:6415 HGNC:6415 "ENST00000246635.8|NM_153490.3" HGNC:6415 +HGNC:6416 KRT14 keratin 14 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 epidermolysis bullosa simplex, Dowling-Meara, Koebner "EBS3|EBS4" "keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)|keratin 14, type I" Keratins, type I 608 1992-04-09 2016-03-09 2021-05-26 3861 ENSG00000186847 OTTHUMG00000133426 uc002hxf.3 BC002690 NM_000526 CCDS11400 P02533 "1717157|16831889" MGI:96688 RGD:1307463 148066 122897 HGNC:6416 HGNC:6416 "ENST00000167586.7|NM_000526.5" HGNC:6416 +HGNC:6421 KRT15 keratin 15 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "K15|CK15|K1CO" "keratin-15, basic|keratin-15, beta|type I cytoskeletal 15|cytokeratin 15" keratin 15, type I "Keratins, type I|MicroRNA protein coding host genes" "608|1691" 1988-08-12 2016-03-09 2021-11-24 3866 ENSG00000171346 OTTHUMG00000133435 uc002hwy.4 NM_002275 CCDS11398 P19012 16831889 MGI:96689 RGD:1303044 148030 HGNC:6421 HGNC:6421 "ENST00000254043.8|NM_002275.4" +HGNC:6423 KRT16 keratin 16 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 NEPPK focal non-epidermolytic palmoplantar keratoderma keratin 16, type I Keratins, type I 608 1992-12-14 2016-03-09 2021-05-26 3868 ENSG00000186832 OTTHUMG00000133495 uc002hxg.5 S79867 NM_005557 CCDS11401 P08779 "2451124|16831889" MGI:96690 RGD:1590901 148067 122901 HGNC:6423 HGNC:6423 "ENST00000301653.9|NM_005557.4" HGNC:6423 +HGNC:6420 KRT16P1 keratin 16 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 KRT14P keratin 14 pseudogene 1988-08-12 2010-02-25 2010-02-25 2014-11-18 729252 ENSG00000214856 OTTHUMG00000059249 NG_007001 PGOHUM00000237255 HGNC:6420 +HGNC:37807 KRT16P2 keratin 16 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2010-02-25 2014-11-19 400578 ENSG00000227300 OTTHUMG00000059177 NR_029392 PGOHUM00000236939 HGNC:37807 +HGNC:37808 KRT16P3 keratin 16 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 MGC102966 KERSMCR cytokeratin, Smith Magenis syndrome chromosome region 2010-02-25 2014-11-19 644945 ENSG00000214822 OTTHUMG00000130724 BC110641 NR_029393 PGOHUM00000236964 HGNC:37808 +HGNC:37809 KRT16P4 keratin 16 pseudogene 4 pseudogene pseudogene Approved 17p11.2 17p11.2 2010-02-25 2014-11-19 339244 ENSG00000229526 OTTHUMG00000130551 NG_002779 11997339 PGOHUM00000237256 HGNC:37809 +HGNC:37810 KRT16P5 keratin 16 pseudogene 5 pseudogene pseudogene Approved 17p11.2 17p11.2 2010-02-25 2016-10-05 353196 ENSG00000230088 OTTHUMG00000130721 NG_002782 11997339 PGOHUM00000236963 HGNC:37810 +HGNC:50719 KRT16P6 keratin 16 pseudogene 6 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-06-12 2014-06-12 353194 ENSG00000226145 OTTHUMG00000059171 NG_002781 PGOHUM00000236938 HGNC:50719 +HGNC:6427 KRT17 keratin 17 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 PCHC1 keratin 17, type I Keratins, type I 608 1993-10-18 2016-03-09 2021-05-26 3872 ENSG00000128422 OTTHUMG00000133505 uc002hxh.3 X62571 NM_000422 CCDS11402 Q04695 "7539673|1281771|16831889" MGI:96691 RGD:1303181 LRG_1345|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1345.xml 148069 122904 HGNC:6427 HGNC:6427 "ENST00000311208.13|NM_000422.3" HGNC:6427 +HGNC:6428 KRT17P1 keratin 17 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 1993-10-18 2020-04-20 147228 ENSG00000131885 OTTHUMG00000059175 NR_146392 1281771 PGOHUM00000263409 HGNC:6428 +HGNC:6429 KRT17P2 keratin 17 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 1993-10-18 2013-06-25 339241 ENSG00000186831 OTTHUMG00000059248 NG_002778 1281771 PGOHUM00000263428 HGNC:6429 +HGNC:33697 KRT17P3 keratin 17 pseudogene 3 pseudogene pseudogene Approved 17q11.2 17q11.2 2007-11-13 2013-06-25 729682 ENSG00000231870 OTTHUMG00000132805 NT_010799 PGOHUM00000237017 HGNC:33697 +HGNC:50722 KRT17P4 keratin 17 pseudogene 4 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-06-12 2014-06-12 339186 ENSG00000205312 OTTHUMG00000059174 NG_002777 PGOHUM00000236940 HGNC:50722 +HGNC:50723 KRT17P5 keratin 17 pseudogene 5 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-06-12 2015-01-30 339240 ENSG00000205266 OTTHUMG00000059247 NR_001443 PGOHUM00000237254 HGNC:50723 +HGNC:50724 KRT17P6 keratin 17 pseudogene 6 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-06-12 2014-06-12 284196 ENSG00000231645 OTTHUMG00000130723 NG_002776 PGOHUM00000263411 HGNC:50724 +HGNC:50725 KRT17P7 keratin 17 pseudogene 7 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-06-12 2014-06-12 339258 ENSG00000205215 OTTHUMG00000130726 NG_002780 PGOHUM00000236966 HGNC:50725 +HGNC:50726 KRT17P8 keratin 17 pseudogene 8 pseudogene pseudogene Approved 12p13.31 12p13.31 2014-06-12 2014-06-12 100130074 ENSG00000256937 OTTHUMG00000168327 NG_021703 PGOHUM00000239656 HGNC:50726 +HGNC:6430 KRT18 keratin 18 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 keratin 18, type I Keratins, type I 608 1988-08-12 2016-03-09 2022-01-19 3875 ENSG00000111057 OTTHUMG00000169882 uc001sbe.4 NM_199187 CCDS31809 P05783 "1705144|16831889" MGI:96692 RGD:619935 148070 HGNC:6430 HGNC:6430 "ENST00000388835.4|NM_000224.3" +HGNC:6434 KRT18P1 keratin 18 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 dJ25J6.3 1998-02-03 2013-06-25 3879 ENSG00000228666 OTTHUMG00000031205 NG_001024 8824804 PGOHUM00000243109 HGNC:6434 +HGNC:6435 KRT18P2 keratin 18 pseudogene 2 pseudogene pseudogene Approved 21q21.1 21q21.1 OTTHUMG00000078062 2000-05-23 2014-11-19 54044 ENSG00000234439 OTTHUMG00000078062 NG_000918 PGOHUM00000239045 HGNC:6435 +HGNC:16540 KRT18P3 keratin 18 pseudogene 3 pseudogene pseudogene Approved 20p11.21 20p11.21 "bA359G22.1|OTTHUMG00000032046" 2001-09-17 2014-11-19 170527 ENSG00000215553 OTTHUMG00000032046 AL158175 NG_001043 PGOHUM00000247466 HGNC:16540 +HGNC:16604 KRT18P4 keratin 18 pseudogene 4 pseudogene pseudogene Approved 20q13.13 20q13.13 "dJ963K23.1|OTTHUMG00000032705" 2001-09-17 2014-11-19 391256 ENSG00000229222 OTTHUMG00000032705 AL031685 NT_011362 PGOHUM00000247670 HGNC:16604 +HGNC:19259 KRT18P5 keratin 18 pseudogene 5 pseudogene pseudogene Approved 22q11.21 22q11.21 2002-09-18 2014-11-18 728300 ENSG00000236670 OTTHUMG00000150808 NT_011520 PGOHUM00000246241 HGNC:19259 +HGNC:20280 KRT18P6 keratin 18 pseudogene 6 pseudogene pseudogene Approved 14q13.2 14q13.2 2003-01-17 2014-11-19 122592 ENSG00000258783 OTTHUMG00000171008 NG_007005 PGOHUM00000247770 HGNC:20280 +HGNC:20283 KRT18P7 keratin 18 pseudogene 7 pseudogene pseudogene Approved 14q24.2 14q24.2 2003-01-17 2020-04-20 100418877 ENSG00000258951 OTTHUMG00000171331 NG_027387 PGOHUM00000248221 HGNC:20283 +HGNC:31093 KRT18P8 keratin 18 pseudogene 8 pseudogene pseudogene Approved 18p11.22 18p11.22 2004-05-25 2014-11-19 125242 ENSG00000264644 OTTHUMG00000178672 NT_010859 PGOHUM00000234850 HGNC:31093 +HGNC:17767 KRT18P9 keratin 18 pseudogene 9 pseudogene pseudogene Approved 6p21.31 06p21.31 bA513I15.2 2004-03-26 2014-11-19 442205 ENSG00000271231 OTTHUMG00000184543 NT_007592 PGOHUM00000243597 HGNC:17767 +HGNC:23962 KRT18P10 keratin 18 pseudogene 10 pseudogene pseudogene Approved Yp11.2 Yp11.2 2004-05-25 2014-11-19 360019 ENSG00000214207 OTTHUMG00000035193 NG_002937 12815422 PGOHUM00000261828 HGNC:23962 +HGNC:6431 KRT18P11 keratin 18 pseudogene 11 pseudogene pseudogene Approved Xq21.31 Xq21.31 KRT18L1 keratin 18-like 1 1989-05-11 2007-03-15 2007-03-15 2013-06-25 3876 ENSG00000215089 OTTHUMG00000021966 NG_005219 PGOHUM00000261814 HGNC:6431 +HGNC:33410 KRT18P12 keratin 18 pseudogene 12 pseudogene pseudogene Approved 1q41 01q41 2007-03-19 2014-11-19 643471 ENSG00000215819 OTTHUMG00000037015 NT_021877 PGOHUM00000245204 HGNC:33410 +HGNC:6432 KRT18P13 keratin 18 pseudogene 13 pseudogene pseudogene Approved 9q22.33 09q22.33 KRT18L3 keratin 18-like 3 1989-05-11 2007-03-15 2007-03-15 2020-04-20 392371 ENSG00000214417 OTTHUMG00000020331 NT_008470 PGOHUM00000236730 HGNC:6432 +HGNC:6433 KRT18P14 keratin 18 pseudogene 14 pseudogene pseudogene Approved 11p13 11p13 KRT18L4 keratin 18-like 4 1989-05-11 2007-03-15 2007-03-15 2013-06-25 119722 ENSG00000186082 OTTHUMG00000166330 NT_009237 PGOHUM00000257807 HGNC:6433 +HGNC:32449 KRT18P15 keratin 18 pseudogene 15 pseudogene pseudogene Approved 3p22.3 03p22.3 KRT18L5 keratin 18-like 5 2006-01-09 2007-03-15 2007-03-15 2014-11-19 729211 ENSG00000234737 OTTHUMG00000155858 NT_022517 PGOHUM00000237982 HGNC:32449 +HGNC:33384 KRT18P16 keratin 18 pseudogene 16 pseudogene pseudogene Approved 5q23.2 05q23.2 2007-03-19 2014-11-19 391827 ENSG00000235275 OTTHUMG00000162976 NT_034772 PGOHUM00000235747 HGNC:33384 +HGNC:33385 KRT18P17 keratin 18 pseudogene 17 pseudogene pseudogene Approved 3p25.2 03p25.2 2007-03-19 2016-10-05 344866 ENSG00000213943 OTTHUMG00000155395 NT_022517 PGOHUM00000261366 HGNC:33385 +HGNC:33386 KRT18P18 keratin 18 pseudogene 18 pseudogene pseudogene Approved 16q22.2 16q22.2 2007-03-19 2014-11-19 342374 ENSG00000261764 OTTHUMG00000173050 NT_010498 PGOHUM00000249169 HGNC:33386 +HGNC:33387 KRT18P19 keratin 18 pseudogene 19 pseudogene pseudogene Approved 2q32.2 02q32.2 2007-03-19 2014-11-19 339781 ENSG00000213601 OTTHUMG00000154302 NT_005403 PGOHUM00000240457 HGNC:33387 +HGNC:33388 KRT18P20 keratin 18 pseudogene 20 pseudogene pseudogene Approved 12q23.3 12q23.3 2007-03-19 2013-06-25 121054 ENSG00000257758 OTTHUMG00000169821 NT_019546 PGOHUM00000258643 HGNC:33388 +HGNC:33389 KRT18P21 keratin 18 pseudogene 21 pseudogene pseudogene Approved 4q26 04q26 2007-03-19 2014-11-18 132391 ENSG00000250363 OTTHUMG00000161073 NT_016354 PGOHUM00000246043 HGNC:33389 +HGNC:33390 KRT18P22 keratin 18 pseudogene 22 pseudogene pseudogene Approved 6q22.1 06q22.1 2007-03-19 2014-11-18 442252 ENSG00000218153 OTTHUMG00000015437 NT_025741 PGOHUM00000243341 HGNC:33390 +HGNC:33392 KRT18P23 keratin 18 pseudogene 23 pseudogene pseudogene Approved 22q13.31 22q13.31 2007-03-19 2014-11-19 642448 ENSG00000215333 OTTHUMG00000150459 NT_011523 PGOHUM00000246605 HGNC:33392 +HGNC:33393 KRT18P24 keratin 18 pseudogene 24 pseudogene pseudogene Approved 9q21.31 09q21.31 2007-03-19 2013-06-25 340460 ENSG00000226234 OTTHUMG00000020068 NT_023935 PGOHUM00000236223 HGNC:33393 +HGNC:33394 KRT18P25 keratin 18 pseudogene 25 pseudogene pseudogene Approved 4p14 04p14 2007-03-19 2014-11-19 391647 ENSG00000249064 OTTHUMG00000160583 NT_016297 PGOHUM00000245885 HGNC:33394 +HGNC:33395 KRT18P26 keratin 18 pseudogene 26 pseudogene pseudogene Approved 2p13.1 02p13.1 2007-03-19 2013-08-14 100418770 ENSG00000229798 OTTHUMG00000152933 NT_022184 PGOHUM00000240095 HGNC:33395 +HGNC:33396 KRT18P27 keratin 18 pseudogene 27 pseudogene pseudogene Approved 13q31.3 13q31.3 2007-03-19 2010-07-22 2014-11-18 390418 ENSG00000224419 OTTHUMG00000017183 NT_009952 PGOHUM00000248662 HGNC:33396 +HGNC:33397 KRT18P28 keratin 18 pseudogene 28 pseudogene pseudogene Approved 1q25.3 01q25.3 2007-03-19 2014-11-19 343326 ENSG00000176855 OTTHUMG00000035417 NT_004487 PGOHUM00000244364 HGNC:33397 +HGNC:33398 KRT18P29 keratin 18 pseudogene 29 pseudogene pseudogene Approved 2q31.3 02q31.3 2007-03-19 2014-11-19 729050 ENSG00000213958 OTTHUMG00000154327 NT_005403 PGOHUM00000240447 HGNC:33398 +HGNC:33399 KRT18P30 keratin 18 pseudogene 30 pseudogene pseudogene Approved 6q14.3 06q14.3 2007-03-19 2007-03-19 643858 NT_007299 HGNC:33399 +HGNC:33400 KRT18P31 keratin 18 pseudogene 31 pseudogene pseudogene Approved 5p13.2 05p13.2 2007-03-19 2014-11-19 646723 ENSG00000249850 OTTHUMG00000162026 NT_006576 PGOHUM00000235561 HGNC:33400 +HGNC:33401 KRT18P32 keratin 18 pseudogene 32 pseudogene pseudogene Approved 1q43 01q43 2007-03-19 2014-11-19 391179 ENSG00000215149 OTTHUMG00000039531 NT_004836 PGOHUM00000245268 HGNC:33401 +HGNC:33402 KRT18P33 keratin 18 pseudogene 33 pseudogene pseudogene Approved 2p14 02p14 2007-03-19 2013-06-25 647162 ENSG00000214533 OTTHUMG00000152796 NT_022184 PGOHUM00000261354 HGNC:33402 +HGNC:33403 KRT18P34 keratin 18 pseudogene 34 pseudogene pseudogene Approved 3q25.31 03q25.31 2007-03-19 2016-10-05 391589 ENSG00000244515 OTTHUMG00000158716 NT_005612 PGOHUM00000237836 HGNC:33403 +HGNC:33404 KRT18P35 keratin 18 pseudogene 35 pseudogene pseudogene Approved 3q23 03q23 2007-03-19 2013-06-25 391584 ENSG00000215606 OTTHUMG00000160143 NT_005612 PGOHUM00000237794 HGNC:33404 +HGNC:33405 KRT18P36 keratin 18 pseudogene 36 pseudogene pseudogene Approved 9p21.1 09p21.1 2007-03-19 2014-11-19 442406 ENSG00000226246 OTTHUMG00000019730 NT_008413 PGOHUM00000236003 HGNC:33405 +HGNC:33406 KRT18P37 keratin 18 pseudogene 37 pseudogene pseudogene Approved 8p11.21 08p11.21 2007-03-19 2014-11-19 392214 ENSG00000253943 OTTHUMG00000164078 NT_007995 PGOHUM00000249630 HGNC:33406 +HGNC:33407 KRT18P38 keratin 18 pseudogene 38 pseudogene pseudogene Approved 6p22.3 06p22.3 2007-03-19 2014-11-19 441133 ENSG00000214012 OTTHUMG00000014327 NT_007592 PGOHUM00000243500 HGNC:33407 +HGNC:33408 KRT18P39 keratin 18 pseudogene 39 pseudogene pseudogene Approved 2q33.2 02q33.2 2007-03-19 2013-06-25 344462 ENSG00000224791 OTTHUMG00000154623 NT_005403 PGOHUM00000240495 HGNC:33408 +HGNC:33409 KRT18P40 keratin 18 pseudogene 40 pseudogene pseudogene Approved 19p12 19p12 2007-03-19 2015-07-31 390904 ENSG00000269012 OTTHUMG00000189492 NT_011295 PGOHUM00000295267 HGNC:33409 +HGNC:33411 KRT18P41 keratin 18 pseudogene 41 pseudogene pseudogene Approved 5q35.1 05q35.1 2007-03-19 2014-11-19 345430 ENSG00000253219 OTTHUMG00000163085 NT_023133 PGOHUM00000235451 HGNC:33411 +HGNC:33412 KRT18P42 keratin 18 pseudogene 42 pseudogene pseudogene Approved 5q21.3 05q21.3 2007-03-19 2014-11-19 391819 ENSG00000214794 OTTHUMG00000162835 NT_034772 PGOHUM00000235727 HGNC:33412 +HGNC:33413 KRT18P43 keratin 18 pseudogene 43 pseudogene pseudogene Approved 3q26.2 03q26.2 2007-03-19 2014-11-19 151825 ENSG00000240128 OTTHUMG00000158732 NT_005612 PGOHUM00000237857 HGNC:33413 +HGNC:33414 KRT18P44 keratin 18 pseudogene 44 pseudogene pseudogene Approved Xq25 Xq25 2007-03-19 2007-03-19 2013-06-25 139748 ENSG00000218728 OTTHUMG00000022366 NT_011786 PGOHUM00000242005 HGNC:33414 +HGNC:33415 KRT18P45 keratin 18 pseudogene 45 pseudogene pseudogene Approved 5q14.1 05q14.1 2007-03-19 2014-11-19 391803 ENSG00000249438 OTTHUMG00000162513 NT_006713 PGOHUM00000235675 HGNC:33415 +HGNC:33416 KRT18P46 keratin 18 pseudogene 46 pseudogene pseudogene Approved 2q24.2 02q24.2 2007-03-19 2013-06-25 391458 ENSG00000235716 OTTHUMG00000154324 NT_005403 PGOHUM00000241003 HGNC:33416 +HGNC:33417 KRT18P47 keratin 18 pseudogene 47 pseudogene pseudogene Approved 15q26.1 15q26.1 2007-03-19 2013-06-25 390634 ENSG00000259489 OTTHUMG00000171974 NT_010274 PGOHUM00000247262 HGNC:33417 +HGNC:33418 KRT18P48 keratin 18 pseudogene 48 pseudogene pseudogene Approved Xq28 Xq28 2007-03-19 2013-06-25 340598 ENSG00000217889 OTTHUMG00000024199 NT_011726 PGOHUM00000260932 HGNC:33418 +HGNC:33419 KRT18P49 keratin 18 pseudogene 49 pseudogene pseudogene Approved Xq22.3 Xq22.3 2007-03-19 2014-11-19 392516 ENSG00000214720 OTTHUMG00000022163 NT_011651 PGOHUM00000241941 HGNC:33419 +HGNC:33420 KRT18P50 keratin 18 pseudogene 50 pseudogene pseudogene Approved 6q16.1 06q16.1 2007-03-19 2014-11-19 442236 ENSG00000219941 OTTHUMG00000015235 NT_025741 PGOHUM00000243715 HGNC:33420 +HGNC:33421 KRT18P51 keratin 18 pseudogene 51 pseudogene pseudogene Approved 4q31.21 04q31.21 2007-03-19 2012-10-16 391703 ENSG00000250504 OTTHUMG00000161431 NT_016354 PGOHUM00000261392 HGNC:33421 +HGNC:37888 KRT18P52 keratin 18 pseudogene 52 pseudogene pseudogene Approved 2p22.3 02p22.3 2010-03-08 2016-10-05 100418769 ENSG00000237007 OTTHUMG00000152055 NG_021498 PGOHUM00000240007 HGNC:37888 +HGNC:38714 KRT18P53 keratin 18 pseudogene 53 pseudogene pseudogene Approved Xp22.33 Xp22.33 2010-07-28 2014-11-19 106478925 ENSG00000229232 OTTHUMG00000021051 NG_043536 PGOHUM00000241164 HGNC:38714 +HGNC:39425 KRT18P54 keratin 18 pseudogene 54 pseudogene pseudogene Approved 4q28.3 04q28.3 2010-12-09 2010-12-09 100418792 ENSG00000250834 OTTHUMG00000161222 NG_025165 PGOHUM00000245701 HGNC:39425 +HGNC:26874 KRT18P55 keratin 18 pseudogene 55 pseudogene pseudogene Approved 17q11.2 17q11.2 2011-07-20 2013-06-25 284085 ENSG00000265480 OTTHUMG00000179422 NR_028334 PGOHUM00000237009 HGNC:26874 +HGNC:43923 KRT18P56 keratin 18 pseudogene 56 pseudogene pseudogene Approved 5p13.1 05p13.1 2012-05-04 2012-05-04 106479027 ENSG00000249668 OTTHUMG00000162070 NG_044313 PGOHUM00000260056 HGNC:43923 +HGNC:48884 KRT18P57 keratin 18 pseudogene 57 pseudogene pseudogene Approved 1p13.2 01p13.2 2013-06-25 2013-06-25 643329 ENSG00000215867 OTTHUMG00000011952 NG_022732 PGOHUM00000244145 HGNC:48884 +HGNC:48885 KRT18P58 keratin 18 pseudogene 58 pseudogene pseudogene Approved 11p15.4 11p15.4 2013-06-25 2013-06-25 644030 ENSG00000254831 OTTHUMG00000165375 NG_029277 PGOHUM00000242153 HGNC:48885 +HGNC:48886 KRT18P59 keratin 18 pseudogene 59 pseudogene pseudogene Approved 11q24.2 11q24.2 2013-06-25 2013-06-25 399965 ENSG00000187686 OTTHUMG00000165881 NG_029288 PGOHUM00000257930 HGNC:48886 +HGNC:48887 KRT18P60 keratin 18 pseudogene 60 pseudogene pseudogene Approved 12q14.3 12q14.3 2013-06-25 2013-06-25 100418829 ENSG00000215208 OTTHUMG00000168871 NG_023441 PGOHUM00000239498 HGNC:48887 +HGNC:48888 KRT18P61 keratin 18 pseudogene 61 pseudogene pseudogene Approved 17q23.2 17q23.2 2013-06-25 2013-06-25 100418865 ENSG00000267083 OTTHUMG00000180065 NG_026259 PGOHUM00000237459 HGNC:48888 +HGNC:48889 KRT18P62 keratin 18 pseudogene 62 pseudogene pseudogene Approved 22q11.21 22q11.21 2013-06-25 2013-06-25 100287635 ENSG00000233471 OTTHUMG00000150111 NG_033805 PGOHUM00000246405 HGNC:48889 +HGNC:48890 KRT18P63 keratin 18 pseudogene 63 pseudogene pseudogene Approved 4p15.31 04p15.31 2013-06-25 2013-06-25 100288868 ENSG00000235413 OTTHUMG00000160322 NG_022049 PGOHUM00000245859 HGNC:48890 +HGNC:48891 KRT18P64 keratin 18 pseudogene 64 pseudogene pseudogene Approved 6q14.3 06q14.3 2013-06-25 2013-06-25 107133513 ENSG00000213211 OTTHUMG00000015134 NG_046670 PGOHUM00000258222 HGNC:48891 +HGNC:48892 KRT18P65 keratin 18 pseudogene 65 pseudogene pseudogene Approved 6q21 06q21 2013-06-25 2013-06-25 442249 ENSG00000215807 OTTHUMG00000015388 NG_022320 PGOHUM00000243330 HGNC:48892 +HGNC:48893 KRT18P66 keratin 18 pseudogene 66 pseudogene pseudogene Approved 9p21.1 09p21.1 2013-06-25 2013-06-25 442405 ENSG00000235626 OTTHUMG00000019729 NG_021643 PGOHUM00000236425 HGNC:48893 +HGNC:48894 KRT18P67 keratin 18 pseudogene 67 pseudogene pseudogene Approved 9q33.2 09q33.2 2013-06-25 2013-06-25 100631239 ENSG00000233425 OTTHUMG00000020626 NG_029269 PGOHUM00000236767 HGNC:48894 +HGNC:48895 KRT18P68 keratin 18 pseudogene 68 pseudogene pseudogene Approved Xp11.3 Xp11.3 2013-06-25 2013-06-25 139060 ENSG00000213100 OTTHUMG00000021413 NG_029275 PGOHUM00000241735 HGNC:48895 +HGNC:6436 KRT19 keratin 19 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "K19|CK19|K1CS|MGC15366" "keratin, type I cytoskeletal 19|keratin, type I, 40-kd|cytokeratin 19|40-kDa keratin intermediate filament" keratin 19, type I Keratins, type I 608 1988-05-11 2016-03-09 2022-01-19 3880 ENSG00000171345 OTTHUMG00000133422 uc002hxd.5 NM_002276 CCDS11399 P08727 16831889 MGI:96693 RGD:619936 148020 HGNC:6436 HGNC:6436 "ENST00000361566.7|NM_002276.5" +HGNC:33422 KRT19P1 keratin 19 pseudogene 1 pseudogene pseudogene Approved 6q13 06q13 2007-03-20 2017-09-21 441160 ENSG00000218014 OTTHUMG00000015007 NG_009680 PGOHUM00000243669 HGNC:33422 +HGNC:33423 KRT19P2 keratin 19 pseudogene 2 pseudogene pseudogene Approved 12q22 12q22 KRT19P5 keratin 19 pseudogene 5 2007-03-20 2014-11-19 160313 ENSG00000216306 OTTHUMG00000170700 NT_019546 PGOHUM00000239898 HGNC:33423 +HGNC:33424 KRT19P3 keratin 19 pseudogene 3 pseudogene pseudogene Approved 4q25 04q25 2007-03-20 2019-08-16 442114 ENSG00000249681 OTTHUMG00000161105 NG_009651 PGOHUM00000245653 HGNC:33424 +HGNC:45073 KRT19P4 keratin 19 pseudogene 4 pseudogene pseudogene Approved 10q21.3 10q21.3 2013-02-07 2013-02-07 100128041 ENSG00000234102 OTTHUMG00000018347 NG_022181 PGOHUM00000238825 HGNC:45073 +HGNC:45076 KRT19P6 keratin 19 pseudogene 6 pseudogene pseudogene Approved 4q22.1 04q22.1 2013-02-07 2013-02-07 106480807 ENSG00000249891 OTTHUMG00000161034 NG_044217 PGOHUM00000245622 HGNC:45076 +HGNC:20412 KRT20 keratin 20 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "CK20|K20|MGC35423" keratin 20, type I Keratins, type I 608 2003-02-04 2016-03-09 2021-11-24 54474 ENSG00000171431 OTTHUMG00000133366 uc002hvl.4 BC031559 NM_019010 CCDS11379 P35900 "8359595|12515621|16831889" MGI:1914059 RGD:628646 608218 HGNC:20412 HGNC:20412 "ENST00000167588.4|NM_019010.3" HGNC:20412 +HGNC:6438 KRT23 keratin 23 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "K23|DKFZP434G032|HAIK1|CK23|MGC26158" "keratin 23 (histone deacetylase inducible)|keratin 23, type I" Keratins, type I 608 2000-07-31 2016-03-09 2022-01-19 25984 ENSG00000108244 OTTHUMG00000133376 uc002hvm.3 AF102848 NM_001282433 "CCDS62182|CCDS11380" Q9C075 "11135429|16831889" MGI:2148866 RGD:1308838 606194 HGNC:6438 HGNC:6438 "ENST00000209718.8|NM_015515.5" +HGNC:18527 KRT24 keratin 24 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "FLJ20261|MGC138169|MGC138173" keratin 24, type I Keratins, type I 608 2002-04-26 2016-03-09 2022-01-19 192666 ENSG00000167916 OTTHUMG00000133372 uc002hvd.3 NM_019016 CCDS11372 Q2M2I5 16831889 MGI:1922956 RGD:1303157 607742 HGNC:18527 HGNC:18527 "ENST00000264651.3|NM_019016.3" +HGNC:30839 KRT25 keratin 25 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KRT25A "keratin 25A|keratin 25, type I" Keratins, type I 608 2004-02-03 2006-07-17 2016-03-09 2021-05-26 147183 ENSG00000204897 OTTHUMG00000133373 uc002hve.3 AK129503 NM_181534 CCDS11373 Q7Z3Z0 16831889 MGI:1918060 RGD:1359097 616646 448847 HGNC:30839 HGNC:30839 "ENST00000312150.5|NM_181534.4" HGNC:30839 +HGNC:30840 KRT26 keratin 26 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KRT25B "keratin 25B|keratin 26, type I" Keratins, type I 608 2004-02-03 2006-07-17 2016-03-09 2022-01-19 353288 ENSG00000186393 OTTHUMG00000133370 uc002hvf.4 AJ564205 NM_181539 CCDS11374 Q7Z3Y9 16831889 MGI:2444913 RGD:1303322 616675 HGNC:30840 HGNC:30840 +HGNC:30841 KRT27 keratin 27 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KRT25C "keratin 25C|keratin 27, type I" Keratins, type I 608 2004-02-03 2006-07-17 2016-03-09 2022-01-19 342574 ENSG00000171446 OTTHUMG00000133371 uc002hvg.3 AJ564206 NM_181537 CCDS11375 Q7Z3Y8 16831889 MGI:1339999 RGD:1359115 616676 HGNC:30841 HGNC:30841 "ENST00000301656.4|NM_181537.4" +HGNC:30842 KRT28 keratin 28 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KRT25D "keratin 25D|keratin 28, type I" Keratins, type I 608 2004-02-03 2006-07-17 2016-03-09 2022-01-19 162605 ENSG00000173908 OTTHUMG00000133365 uc002hvh.2 AK129827 NM_181535 CCDS11376 Q7Z3Y7 16831889 MGI:1918093 RGD:1309530 616677 HGNC:30842 HGNC:30842 "ENST00000306658.8|NM_181535.3" +HGNC:6448 KRT31 keratin 31 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 Ha-1 hard keratin type I 1 KRTHA1 "keratin, hair, acidic, 1|keratin 31, type I" Keratins, type I 608 1998-04-21 2006-07-17 2016-03-09 2022-01-19 3881 ENSG00000094796 OTTHUMG00000133423 uc002hwn.4 X86570 NM_002277 CCDS11391 Q15323 "7578244|16831889" MGI:1309993 RGD:1359411 601077 HGNC:6448 HGNC:6448 "ENST00000251645.3|NM_002277.3" +HGNC:6449 KRT32 keratin 32 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 Ha-2 hard keratin type I KRTHA2 "keratin, hair, acidic, 2|keratin 32, type I" Keratins, type I 608 1998-04-21 2006-07-17 2016-03-09 2022-01-19 3882 ENSG00000108759 OTTHUMG00000133430 uc002hwr.4 X90761 NM_002278 CCDS11393 Q14532 "7556444|8823373|16831889" MGI:1309995 RGD:1359701 602760 HGNC:6449 HGNC:6449 "ENST00000225899.4|NM_002278.3" +HGNC:6450 KRT33A keratin 33A protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "Ha-3I|Krt1-3" hard keratin type I 3I KRTHA3A "keratin, hair, acidic, 3A|keratin 33A, type I" Keratins, type I 608 2004-10-20 2006-07-17 2016-03-09 2016-03-09 3883 ENSG00000006059 OTTHUMG00000133432 uc002hwk.3 Y16788 NM_004138 CCDS11388 O76009 "7565656|16831889" MGI:1919138 RGD:1306249 602761 HGNC:6450 HGNC:6450 "ENST00000007735.4|NM_004138.4" +HGNC:6451 KRT33B keratin 33B protein-coding gene gene with protein product Approved 17q21.2 17q21.2 Ha-3II hard keratin type I 3II KRTHA3B "keratin, hair, acidic, 3B|keratin 33B, type I" Keratins, type I 608 1998-04-21 2006-07-17 2016-03-09 2016-03-09 3884 ENSG00000131738 OTTHUMG00000133429 uc002hwl.4 X82634 NM_002279 CCDS11389 Q14525 "7565656|16831889" MGI:1309991 602762 HGNC:6451 HGNC:6451 "ENST00000251646.8|NM_002279.5" +HGNC:6452 KRT34 keratin 34 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 Ha-4 hard keratin type I 4 KRTHA4 "keratin, hair, acidic, 4|keratin 34, type I" Keratins, type I 608 1998-04-21 2006-07-17 2016-03-09 2022-01-19 3885 ENSG00000131737 OTTHUMG00000133436 uc002hwm.4 Y16790 NM_021013 CCDS11390 O76011 "2431943|9756910|16831889" MGI:1309994 RGD:1306530 602763 HGNC:6452 HGNC:6452 "ENST00000394001.3|NM_001386014.1" +HGNC:6453 KRT35 keratin 35 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 Ha-5 hard keratin type I 5 KRTHA5 "keratin, hair, acidic, 5|keratin 35, type I" Keratins, type I 608 1998-04-21 2006-07-17 2016-03-09 2022-01-19 3886 ENSG00000197079 OTTHUMG00000133425 uc002hws.4 X90762 NM_002280 CCDS11394 Q92764 "8823373|16831889" MGI:1858899 RGD:1305300 602764 HGNC:6453 HGNC:6453 "ENST00000246639.7|NM_002280.6" +HGNC:6454 KRT36 keratin 36 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KRTHA6 "keratin, hair, acidic, 6|keratin 36, type I" Keratins, type I 608 1998-11-11 2006-07-17 2016-03-09 2022-01-19 8689 ENSG00000126337 OTTHUMG00000133431 uc002hwt.3 Y16792 NM_003771 CCDS11395 O76013 "9756910|16831889" MGI:109364 RGD:1305792 604540 HGNC:6454 HGNC:6454 "ENST00000328119.11|NM_003771.5" +HGNC:6455 KRT37 keratin 37 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KRTHA7 "keratin, hair, acidic, 7|keratin 37, type I" Keratins, type I 608 1998-11-11 2006-07-17 2016-03-09 2022-01-19 8688 ENSG00000108417 OTTHUMG00000133606 uc002hwp.2 Y16793 NM_003770 CCDS32653 O76014 "9756910|16831889" 604541 HGNC:6455 HGNC:6455 "ENST00000225550.4|NM_003770.5" +HGNC:6456 KRT38 keratin 38 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KRTHA8 "keratin, hair, acidic, 8|keratin 38, type I" Keratins, type I 608 1998-11-11 2006-07-17 2016-03-09 2022-01-19 8687 ENSG00000171360 OTTHUMG00000133439 uc002hwq.2 Y16794 NM_006771 CCDS11392 O76015 "9756910|16831889" 604542 HGNC:6456 HGNC:6456 "ENST00000246646.4|NM_006771.4" +HGNC:32971 KRT39 keratin 39 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KA35 keratin 39, type I Keratins, type I 608 2006-07-17 2016-03-09 2022-01-19 390792 ENSG00000196859 OTTHUMG00000133424 uc002hvo.1 AJ786657 NM_213656 CCDS11382 Q6A163 16831889 MGI:3588208 RGD:1303032 616678 HGNC:32971 HGNC:32971 "ENST00000355612.7|NM_213656.4" +HGNC:26707 KRT40 keratin 40 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "FLJ36600|KA36" keratin 40, type I Keratins, type I 608 2006-07-17 2016-03-09 2022-01-19 125115 ENSG00000204889 OTTHUMG00000133596 uc010cxh.2 AK093919 NM_182497 CCDS42320 Q6A162 16831889 MGI:3629968 RGD:1359145 616679 HGNC:26707 HGNC:26707 "ENST00000377755.9|NM_001389244.1" +HGNC:6457 KRT41P keratin 41, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 "phihHaA|HHaA" KRTHAP1 "keratin, hair, acidic pseudogene 1|keratin 41 pseudogene" 1998-11-11 2006-07-17 2021-08-25 2021-08-25 8686 ENSG00000225438 OTTHUMG00000133601 Y16795 NG_000018 "9756910|16831889" PGOHUM00000237073 HGNC:6457 +HGNC:27581 KRT42P keratin 42, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 keratin 42 pseudogene 2006-07-17 2021-08-25 2021-08-25 284116 ENSG00000214514 OTTHUMG00000152412 AK095281 NR_033415 16831889 PGOHUM00000237076 HGNC:27581 +HGNC:48870 KRT43P keratin 43, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 keratin 43 pseudogene 2013-06-19 2022-03-24 2022-03-24 100418861 ENSG00000236473 OTTHUMG00000133683 NG_026184 PGOHUM00000237075 HGNC:48870 +HGNC:28927 KRT71 keratin 71 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "KRT6IRS|KRT6IRS1|K6IRS1" keratin 71, type II Keratins, type II 609 2006-07-17 2016-03-09 2021-05-26 112802 ENSG00000139648 OTTHUMG00000167831 uc001sao.3 AJ308600 NM_033448 CCDS8831 Q3SY84 "11982755|12648212|16831889" MGI:1861586 RGD:1584538 608245 319038 HGNC:28927 HGNC:28927 "ENST00000267119.6|NM_033448.3" HGNC:28927 +HGNC:28932 KRT72 keratin 72 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "K6IRS2|KRT6IRS2|KRT6|K6irs" keratin 72, type II Keratins, type II 609 2006-07-17 2016-03-09 2022-01-19 140807 ENSG00000170486 OTTHUMG00000169744 uc001saq.2 AY033495 NM_080747 "CCDS8833|CCDS53795" Q14CN4 "12648212|11703281|16831889" MGI:2146034 RGD:1303216 608246 HGNC:28932 HGNC:28932 "ENST00000293745.7|NM_080747.3" +HGNC:28928 KRT73 keratin 73 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "KRT6IRS3|K6IRS3" keratin 73, type II Keratins, type II 609 2006-07-17 2016-03-09 2022-01-19 319101 ENSG00000186049 OTTHUMG00000169746 uc001sas.3 AJ508776 NM_175068 CCDS8834 Q86Y46 "12648212|16831889" MGI:3607712 RGD:1359597 608247 HGNC:28928 HGNC:28928 "ENST00000305748.7|NM_175068.3" +HGNC:49607 KRT73-AS1 KRT73 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Antisense RNAs 1987 2014-01-24 2014-01-24 100127967 ENSG00000257495 OTTHUMG00000169745 AK128146 NR_126005 KRT73-AS1 HGNC:49607 +HGNC:28929 KRT74 keratin 74 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "K6IRS4|KRT5C|KRT6IRS4" keratin 74, type II Keratins, type II 609 2006-07-17 2016-03-09 2021-05-26 121391 ENSG00000170484 OTTHUMG00000169658 uc001sap.1 BK000977 NM_175053 CCDS8832 Q7RTS7 "12648212|16831889" MGI:3629975 608248 229791 HGNC:28929 HGNC:28929 "ENST00000305620.3|NM_175053.4" HGNC:28929 +HGNC:24431 KRT75 keratin 75 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 K6HF keratin 75, type II Keratins, type II 609 2006-07-17 2016-03-09 2022-01-19 9119 ENSG00000170454 OTTHUMG00000169592 uc001saj.3 Y19212 NM_004693 CCDS8827 O95678 "9856802|10692104|16831889" MGI:1923500 RGD:1359576 609025 HGNC:24431 HGNC:24431 "ENST00000252245.6|NM_004693.3" +HGNC:24430 KRT76 keratin 76 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HUMCYT2A|KRT2B|KRT2P" keratin 76, type II Keratins, type II 609 2006-07-17 2016-03-09 2022-01-19 51350 ENSG00000185069 OTTHUMG00000169797 uc001sax.3 M99063 NM_015848 CCDS8838 Q01546 "1282112|16831889" MGI:1924305 RGD:1303078 616671 HGNC:24430 HGNC:24430 "ENST00000332411.2|NM_015848.4" +HGNC:20411 KRT77 keratin 77 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KRT1B "keratin 1B|keratin 77, type II" Keratins, type II 609 2003-02-04 2006-07-17 2016-03-09 2022-01-19 374454 ENSG00000189182 OTTHUMG00000169450 uc001saw.4 BK000975 NM_175078 CCDS8837 Q7Z794 "11683385|16831889" MGI:3588209 RGD:1302968 611158 HGNC:20411 HGNC:20411 "ENST00000341809.8|NM_175078.3" +HGNC:28926 KRT78 keratin 78 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 K5B keratin 78, type II Keratins, type II 609 2006-07-17 2016-03-09 2022-01-19 196374 ENSG00000170423 OTTHUMG00000169880 uc001sbc.1 AK096419 NM_173352 "CCDS8840|CCDS73473" Q8N1N4 16831889 MGI:1917529 RGD:1591341 611159 HGNC:28926 HGNC:28926 "ENST00000304620.5|NM_173352.4" +HGNC:28930 KRT79 keratin 79 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "K6L|KRT6L" keratin 6-like keratin 79, type II Keratins, type II 609 2007-07-03 2016-03-09 2022-01-19 338785 ENSG00000185640 OTTHUMG00000169878 uc001sbb.4 AJ564105 NM_175834 CCDS8839 Q5XKE5 11683385 MGI:2385030 RGD:1583372 611160 HGNC:28930 "ENST00000330553.6|NM_175834.3" +HGNC:27056 KRT80 keratin 80 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 KB20 keratin 80, type II Keratins, type II 609 2006-07-17 2016-03-09 2022-01-19 144501 ENSG00000167767 OTTHUMG00000150193 uc001rzx.3 BX537567 NM_182507 "CCDS8821|CCDS41784" Q6KB66 16831889 MGI:1921377 RGD:1359177 611161 HGNC:27056 HGNC:27056 "ENST00000394815.3|NM_182507.3" +HGNC:6458 KRT81 keratin 81 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-1 hard keratin type II 1 KRTHB1 "keratin, hair, basic, 1|keratin 81, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2021-05-26 3887 ENSG00000205426 OTTHUMG00000167574 uc001sab.4 X81420 NM_002281 CCDS31805 Q14533 "7556444|16831889" MGI:1928858 RGD:1303316 602153 122928 HGNC:6458 HGNC:6458 "ENST00000327741.9|NM_002281.4" HGNC:6458 +HGNC:6459 KRT82 keratin 82 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-2 hard keratin type II 2 KRTHB2 "keratin, hair, basic, 2|keratin 82, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2022-01-19 3888 ENSG00000161850 OTTHUMG00000169636 uc001sai.2 Y19207 NM_033033 CCDS8826 Q9NSB4 "2431943|16831889" MGI:2149248 RGD:1359276 601078 HGNC:6459 HGNC:6459 "ENST00000257974.3|NM_033033.4" +HGNC:6460 KRT83 keratin 83 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-3 hard keratin type II KRTHB3 "keratin, hair, basic, 3|keratin 83, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2021-05-26 3889 ENSG00000170523 OTTHUMG00000169632 uc001saf.2 X99141 NM_002282 CCDS8823 P78385 "9084137|16831889" "MGI:3665486|MGI:3690448" RGD:1583565 LRG_1302|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1302.xml 602765 122932 HGNC:6460 HGNC:6460 "ENST00000293670.3|NM_002282.3" HGNC:6460 +HGNC:6461 KRT84 keratin 84 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-4 hard keratin type II 4 KRTHB4 "keratin, hair, basic, 4|keratin 84, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2022-01-19 3890 ENSG00000161849 OTTHUMG00000169634 uc001sah.2 Y19209 NM_033045 CCDS8825 Q9NSB2 "2431943|16831889" MGI:96700 RGD:1359402 602766 HGNC:6461 HGNC:6461 "ENST00000257951.3|NM_033045.4" +HGNC:6462 KRT85 keratin 85 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Hb-5 hard keratin type II KRTHB5 "keratin, hair, basic, 5|keratin 85, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-09 2021-11-24 3891 ENSG00000135443 OTTHUMG00000169633 uc001sag.4 X99140 NM_002283 "CCDS73472|CCDS8824" P78386 "9084137|16831889" MGI:1859268 RGD:1303149 602767 122936 HGNC:6462 HGNC:6462 "ENST00000257901.7|NM_002283.4" HGNC:6462 +HGNC:6463 KRT86 keratin 86 protein-coding gene gene with protein product Approved 12q13 12q13 "MNX|Hb6" hard keratin type II 6 KRTHB6 "keratin, hair, basic, 6 (monilethrix)|keratin 86, type II" Keratins, type II 609 1998-04-21 2006-07-17 2016-03-10 2021-05-26 3892 ENSG00000170442 OTTHUMG00000184153 uc009zmg.3 X99142 NM_002284 CCDS41785 O43790 "9241275|16831889" MGI:109362 RGD:1303215 601928 122940 HGNC:6463 HGNC:6463 "ENST00000423955.7|NM_001320198.2" HGNC:6463 +HGNC:30198 KRT87P keratin 87, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 psihHbD "KRTHBP4|KRT121P" "keratin, hair, basic pseudogene 4|keratin 121 pseudogene|keratin 87 pseudogene" 2004-02-03 2014-01-24 2021-08-26 2021-08-26 85349 ENSG00000135477 OTTHUMG00000165548 Y19216 NG_000944 A6NCN2 "10692104|16831889" MGI:3665486 RGD:1303024 HGNC:30198 +HGNC:30197 KRT88P keratin 88, pseudogene pseudogene pseudogene Approved 12q13 12q13 HBC "KRTHBP3|KRT122P" "keratin, hair, basic pseudogene 3|keratin 122 pseudogene|keratin 88 pseudogene" 2004-02-03 2014-01-24 2022-03-23 2022-03-23 85348 ENSG00000284883 Y19215 NG_000943 "10692104|16831889" MGI:1913572 HGNC:30197 +HGNC:30196 KRT89P keratin 89, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 psihHbB "KRTHBP2|KRT123P" "keratin, hair, basic pseudogene 2|keratin 123 pseudogene|keratin 89 pseudogene" 2004-02-03 2014-01-24 2022-03-23 2022-03-23 85344 ENSG00000274928 OTTHUMG00000187921 Y19214 NG_000940 "10692104|16831889" PGOHUM00000291666 HGNC:30196 +HGNC:30195 KRT90P keratin 90, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 HBA "KRTHBP1|KRT124P" "keratin, hair, basic pseudogene 1|keratin 124 pseudogene|keratin 90 pseudogene" 2004-02-03 2014-01-24 2022-03-23 2022-03-23 85340 ENSG00000257844 OTTHUMG00000169770 Y19213 NG_000938 "10692104|16831889" MGI:3045312 PGOHUM00000261132 HGNC:30195 +HGNC:48875 KRT125P keratin 125, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 keratin 125 pseudogene 2013-06-15 2022-03-24 2022-03-24 100418828 ENSG00000258036 OTTHUMG00000169753 NG_024014 PGOHUM00000239460 HGNC:48875 +HGNC:32970 KRT126P keratin 126, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 keratin 126 pseudogene 2006-07-17 2022-03-24 2022-03-24 643865 ENSG00000257402 OTTHUMG00000169751 BK003989 XM_927136 16831889 PGOHUM00000239459 HGNC:32970 +HGNC:40019 KRT127P keratin 127, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 KRT3P1 "keratin 3 pseudogene 1|keratin 127 pseudogene" 2011-05-03 2013-06-20 2022-03-24 2022-03-24 100418779 ENSG00000257125 OTTHUMG00000169768 NG_024015 PGOHUM00000239462 HGNC:40019 +HGNC:48882 KRT128P keratin 128, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 keratin 128 pseudogene 2013-06-25 2014-01-24 2022-03-24 2022-03-24 106480238 ENSG00000258120 OTTHUMG00000169747 NG_043793 PGOHUM00000239458 HGNC:48882 +HGNC:28695 KRT222 keratin 222 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KA21|MGC45562" KRT222P keratin 222 pseudogene Keratins 1109 2006-07-17 2009-08-25 2016-03-10 2021-05-20 125113 ENSG00000213424 OTTHUMG00000133374 uc002hvc.3 AK092967 NM_152349 CCDS11371 Q8N1A0 16831889 MGI:2442728 RGD:1560383 HGNC:28695 "ENST00000394052.5|NM_152349.3" +HGNC:32968 KRT223P keratin 223, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 keratin 223 pseudogene 2006-07-17 2020-09-24 2020-09-24 643115 ENSG00000229028 OTTHUMG00000133585 NG_009669 "16831889|31358806" PGOHUM00000237070 HGNC:32968 +HGNC:55253 KRT224P keratin 224, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 2020-09-24 2020-09-24 118732296 ENSG00000224244 31358806 +HGNC:16772 KRTAP1-1 keratin associated protein 1-1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KAP1.1B|HB2A|KAP1.1|KAP1.1A" Keratin associated proteins 619 2002-08-09 2018-04-25 81851 ENSG00000188581 OTTHUMG00000133592 uc060faj.1 AJ406926 NM_030967 CCDS42324 Q07627 11279113 "MGI:1916914|MGI:3650443|MGI:3651229" 608819 HGNC:16772 "ENST00000306271.5|NM_030967.3" +HGNC:16771 KRTAP1-3 keratin associated protein 1-3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP1.3 Keratin associated proteins 619 2002-08-09 2015-09-03 81850 ENSG00000221880 OTTHUMG00000133583 uc002hvv.4 AJ406927 NM_030966 CCDS42323 Q8IUG1 11279113 "MGI:1916914|MGI:3650443|MGI:3651229" 608820 HGNC:16771 "ENST00000344363.7|NM_030966.2" +HGNC:18904 KRTAP1-4 keratin associated protein 1-4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP1.4 Keratin associated proteins 619 2002-08-09 2015-09-03 728255 ENSG00000204887 OTTHUMG00000133631 uc031raf.2 AC007455 NM_001257305 CCDS58548 P0C5Y4 "MGI:1916914|MGI:3650443|MGI:3651229" RGD:1598224 608821 HGNC:18904 "ENST00000377747.5|NM_001257305.2" +HGNC:16777 KRTAP1-5 keratin associated protein 1-5 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP1.5 Keratin associated proteins 619 2002-08-09 2015-09-03 83895 ENSG00000221852 OTTHUMG00000133587 uc002hvu.4 AJ406928 NM_031957 CCDS42321 Q9BYS1 11279113 "MGI:1916914|MGI:3650443|MGI:3651229" RGD:2324575 608822 HGNC:16777 "ENST00000361883.6|NM_031957.2" +HGNC:16775 KRTAP2-1 keratin associated protein 2-1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP2.1A Keratin associated proteins 619 2002-08-09 2015-09-03 81872 ENSG00000212725 OTTHUMG00000171405 uc010cxi.4 AJ296345 NM_001123387 CCDS42325 Q9BYU5 11279113 MGI:1918703 RGD:1561281 HGNC:16775 "ENST00000391419.3|NM_001123387.1" +HGNC:18905 KRTAP2-2 keratin associated protein 2-2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP2.2 Keratin associated proteins 619 2002-08-09 2015-09-03 728279 ENSG00000214518 OTTHUMG00000133593 uc010cxj.4 AJ302536 NM_033032 CCDS54122 Q9BYT5 MGI:3652059 HGNC:18905 +HGNC:18906 KRTAP2-3 keratin associated protein 2-3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP2.3 Keratin associated proteins 619 2002-08-09 2020-04-20 730755 ENSG00000212724 OTTHUMG00000133655 uc002hvx.4 BC012486 NM_001165252 CCDS54123 P0C7H8 MGI:3652059 HGNC:18906 "ENST00000391418.3|NM_001165252.2" +HGNC:18891 KRTAP2-4 keratin associated protein 2-4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP2.4 Keratin associated proteins 619 2002-08-09 2015-09-03 85294 ENSG00000213417 OTTHUMG00000133594 uc002hvy.3 AJ406930 NM_033184 CCDS32648 Q9BYR9 11279113 MGI:3652059 RGD:1561684 HGNC:18891 "ENST00000394015.3|NM_033184.4" +HGNC:18920 KRTAP2-5P keratin associated protein 2-5, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 KAP2A KRTAP2P1 keratin associated protein 2 pseudogene 1 Keratin associated proteins 619 2002-08-09 2010-01-06 2010-01-06 2010-09-30 85343 ENSG00000237230 OTTHUMG00000133635 AC025904 NG_000939 PGOHUM00000237388 HGNC:18920 +HGNC:16778 KRTAP3-1 keratin associated protein 3-1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP3.1 Keratin associated proteins 619 2002-08-09 2015-09-03 83896 ENSG00000212901 OTTHUMG00000133595 uc002hvt.2 AJ406931 NM_031958 CCDS32645 Q9BYR8 11279113 MGI:1916723 RGD:1596817 HGNC:16778 "ENST00000391588.3|NM_031958.2" +HGNC:16779 KRTAP3-2 keratin associated protein 3-2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP3.2 Keratin associated proteins 619 2002-08-09 2015-09-03 83897 ENSG00000212900 OTTHUMG00000133581 uc002hvs.4 AJ406932 NM_031959 CCDS32644 Q9BYR7 11279113 MGI:1913630 RGD:1596828 HGNC:16779 "ENST00000391587.3|NM_031959.3" +HGNC:18890 KRTAP3-3 keratin associated protein 3-3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP3.3 Keratin associated proteins 619 2002-08-09 2015-09-03 85293 ENSG00000212899 OTTHUMG00000133591 uc002hvr.1 AJ406933 NM_033185 CCDS32643 Q9BYR6 11279113 MGI:1913630 RGD:1307504 HGNC:18890 "ENST00000391586.3|NM_033185.3" +HGNC:18919 KRTAP3-4P keratin associated protein 3-4, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 KAP3A KRTAP3P1 keratin associated protein 3 pseudogene 1 Keratin associated proteins 619 2002-08-09 2010-01-06 2010-01-06 2012-03-14 85345 ENSG00000226776 OTTHUMG00000133637 AC007455 NG_000941 PGOHUM00000237072 HGNC:18919 +HGNC:18907 KRTAP4-1 keratin associated protein 4-1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KAP4.1|KAP4.10" KRTAP4-10 keratin associated protein 4-10 Keratin associated proteins 619 2002-08-09 2020-04-20 85285 ENSG00000198443 OTTHUMG00000132081 uc060fau.1 AC006070 NM_033060 Q9BYQ7 11279113 MGI:3651030 HGNC:18907 "ENST00000398472.2|NM_001386841.1" +HGNC:18900 KRTAP4-2 keratin associated protein 4-2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP4.2 Keratin associated proteins 619 2002-08-09 2015-09-03 85291 ENSG00000244537 OTTHUMG00000133437 uc002hwd.3 AJ406934 NM_033062 CCDS11384 Q9BYR5 11279113 HGNC:18900 "ENST00000377726.3|NM_033062.4" +HGNC:18908 KRTAP4-3 keratin associated protein 4-3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP4.3 Keratin associated proteins 619 2002-08-09 2015-09-03 85290 ENSG00000196156 OTTHUMG00000133639 uc010cxl.4 AJ406935 NM_033187 CCDS42331 Q9BYR4 "MGI:1916018|MGI:1916714|MGI:3650329|MGI:3652177" HGNC:18908 "ENST00000391356.4|NM_033187.2" +HGNC:16928 KRTAP4-4 keratin associated protein 4-4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KAP4.4|KAP4.13" KRTAP4-13 keratin associated protein 4-13 Keratin associated proteins 619 2002-08-09 2015-09-03 84616 ENSG00000171396 OTTHUMG00000133428 uc002hwc.4 AJ406936 NM_032524 CCDS11383 Q9BYR3 11279113 HGNC:16928 "ENST00000390661.5|NM_032524.2" +HGNC:18899 KRTAP4-5 keratin associated protein 4-5 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP4.5 Keratin associated proteins 619 2002-08-09 2015-09-03 85289 ENSG00000198271 OTTHUMG00000133638 uc060fat.1 AJ406937 NM_033188 CCDS32650 Q9BYR2 11279113 "MGI:1923694|MGI:3650330" RGD:1591746 HGNC:18899 "ENST00000343246.6|NM_033188.4" +HGNC:18909 KRTAP4-6 keratin associated protein 4-6 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KAP4.6|KAP4.15" KRTAP4-15 keratin associated protein 4-15 Keratin associated proteins 619 2002-08-09 2015-09-03 81871 ENSG00000198090 OTTHUMG00000133634 uc060fas.1 AJ406938 NM_030976 CCDS54125 Q9BYQ5 "MGI:1923694|MGI:3650330" HGNC:18909 +HGNC:18898 KRTAP4-7 keratin associated protein 4-7 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP4.7 Keratin associated proteins 619 2002-08-09 2020-04-20 100132476 ENSG00000240871 OTTHUMG00000133582 uc010wfn.3 AJ406939 NM_033061 CCDS45673 Q9BYR0 11279113 HGNC:18898 +HGNC:17230 KRTAP4-8 keratin associated protein 4-8 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP4.8 Keratin associated proteins 619 2002-08-09 2020-04-20 728224 ENSG00000204880 OTTHUMG00000133580 uc060fao.1 AJ406940 NM_031960 CCDS45674 Q9BYQ9 11279113 "MGI:1923694|MGI:3650330" RGD:1566146 HGNC:17230 "ENST00000333822.5|NM_031960.3" +HGNC:18910 KRTAP4-9 keratin associated protein 4-9 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP4.9 Keratin associated proteins 619 2002-08-09 2020-04-20 100132386 ENSG00000212722 OTTHUMG00000133584 uc010wfp.3 AJ406941 NM_001146041 CCDS54124 Q9BYQ8 "MGI:3650329|MGI:3650330" HGNC:18910 +HGNC:18911 KRTAP4-11 keratin associated protein 4-11 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KAP4.11|KAP4.14" KRTAP4-14 keratin associated protein 4-14 Keratin associated proteins 619 2002-08-09 2015-09-03 653240 ENSG00000212721 OTTHUMG00000133586 uc002hvz.5 AC025904 NM_033059 CCDS45675 Q9BYQ6 "MGI:1923694|MGI:3650329|MGI:3650330|MGI:3652306" HGNC:18911 "ENST00000391413.4|NM_033059.4" +HGNC:16776 KRTAP4-12 keratin associated protein 4-12 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP4.12 Keratin associated proteins 619 2002-08-09 2015-09-03 83755 ENSG00000213416 OTTHUMG00000133632 uc002hwa.4 AJ406943 NM_031854 CCDS32649 Q9BQ66 11279113 "MGI:1923694|MGI:3650330" HGNC:16776 "ENST00000394014.2|NM_031854.3" +HGNC:18921 KRTAP4-16 keratin associated protein 4-16 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP4A "KRTAP4P1|KRTAP4-16P" "keratin associated protein 4 pseudogene 1|keratin associated protein 4-16, pseudogene" Keratin associated proteins 619 2002-08-09 2016-03-15 2016-03-15 2021-09-28 85354 ENSG00000241241 OTTHUMG00000133590 uc060faq.1 AC025904 NM_001396067 G5E9R7 HGNC:18921 +HGNC:53814 KRTAP4-17P keratin associated protein 4-17, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 KRTAP4p3 Keratin associated proteins 619 2018-01-31 2018-01-31 112296190 ENSG00000251439 OTTHUMG00000133664 NG_066016 18721477 HGNC:53814 +HGNC:23596 KRTAP5-1 keratin associated protein 5-1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 KRTAP5.1 KRN1L keratin, cuticle, ultrahigh sulphur 1-like Keratin associated proteins 619 2003-12-01 2015-09-03 387264 ENSG00000205869 OTTHUMG00000057557 uc001ltu.1 AB126070 NM_001005922 CCDS31330 Q6L8H4 15144888 RGD:9278179 148022 HGNC:23596 "ENST00000382171.2|NM_001005922.1" +HGNC:23597 KRTAP5-2 keratin associated protein 5-2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "KRTAP5.2|KRTAP5-8" Keratin associated proteins 619 2003-12-01 2019-08-20 440021 ENSG00000205867 OTTHUMG00000165547 uc001ltv.3 AB126071 NM_001004325 CCDS31331 Q701N4 15144888 MGI:1918873 HGNC:23597 "ENST00000412090.2|NM_001004325.2" +HGNC:23598 KRTAP5-3 keratin associated protein 5-3 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "KRTAP5.3|KRTAP5-9" Keratin associated proteins 619 2003-12-01 2015-09-03 387266 ENSG00000196224 OTTHUMG00000057559 uc001ltw.1 AB126072 NM_001012708 CCDS41591 Q6L8H2 15144888 HGNC:23598 "ENST00000399685.1|NM_001012708.2" +HGNC:23599 KRTAP5-4 keratin associated protein 5-4 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 KRTAP5.4 Keratin associated proteins 619 2003-12-01 2015-09-03 387267 ENSG00000241598 OTTHUMG00000057553 uc057xta.1 AB126073 NM_001012709 CCDS86161 Q6L8H1 15144888 MGI:5622000 HGNC:23599 "ENST00000399682.1|NM_001347674.1" +HGNC:23601 KRTAP5-5 keratin associated protein 5-5 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "KRTAP5.5|KRTAP5-11" Keratin associated proteins 619 2003-12-01 2020-04-20 439915 ENSG00000185940 OTTHUMG00000057554 uc001lty.4 AB125074 NM_001001480 CCDS41592 Q701N2 15144888 MGI:2149673 HGNC:23601 +HGNC:23600 KRTAP5-6 keratin associated protein 5-6 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 KRTAP5.6 Keratin associated proteins 619 2003-12-01 2014-11-19 440023 ENSG00000205864 OTTHUMG00000043932 uc001lua.3 AB126075 NM_001012416 CCDS31332 Q6L8G9 15144888 MGI:5622000 HGNC:23600 "ENST00000382160.1|NM_001012416.1" +HGNC:23602 KRTAP5-7 keratin associated protein 5-7 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "KRTAP5.7|KRTAP5-3" Keratin associated proteins 619 2003-12-01 2015-09-03 440050 ENSG00000244411 OTTHUMG00000057570 uc001oqq.2 AB126076 NM_001012503 CCDS41682 Q6L8G8 15144888 HGNC:23602 "ENST00000398536.6|NM_001012503.2" +HGNC:23603 KRTAP5-8 keratin associated protein 5-8 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "KRTAP5.8|UHSKerB|KRTAP5-2" Keratin associated proteins 619 2003-12-01 2014-11-19 57830 ENSG00000241233 OTTHUMG00000057571 uc001oqr.1 AB126077 NM_021046 CCDS41683 O75690 15144888 MGI:5622000 RGD:1592604 HGNC:23603 "ENST00000398534.4|NM_021046.3" +HGNC:23604 KRTAP5-9 keratin associated protein 5-9 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "KRTAP5.9|KRTAP5-1" KRN1 Keratin associated proteins 619 2003-12-01 2019-08-20 3846 ENSG00000254997 OTTHUMG00000167263 uc001oqs.2 AB126078 NM_005553 CCDS53677 P26371 15144888 148021 HGNC:23604 "ENST00000528743.4|NM_005553.4" +HGNC:23605 KRTAP5-10 keratin associated protein 5-10 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 KRTAP5.10 Keratin associated proteins 619 2003-12-01 2014-11-18 387273 ENSG00000204572 OTTHUMG00000057585 uc001oqt.2 AB126079 NM_001012710 CCDS41684 Q6L8G5 15144888 HGNC:23605 "ENST00000398531.3|NM_001012710.2" +HGNC:23606 KRTAP5-11 keratin associated protein 5-11 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "KRTAP5.11|KRTAP5-6" Keratin associated proteins 619 2003-12-01 2015-09-03 440051 ENSG00000204571 OTTHUMG00000057586 uc001oqu.3 AB126080 NM_001005405 CCDS41685 Q6L8G4 15144888 HGNC:23606 "ENST00000398530.1|NM_001005405.3" +HGNC:23607 KRTAP5-13P keratin associated protein 5-13, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 KRTAP5.P1 KRTAP5P1 keratin associated protein 5 pseudogene 1 Keratin associated proteins 619 2003-12-01 2010-01-06 2010-01-06 2014-11-19 387275 NG_027924 15144888 HGNC:23607 +HGNC:23608 KRTAP5-14P keratin associated protein 5-14, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 "KRTAP5.P2|KRTAP5-12" KRTAP5P2 keratin associated protein 5 pseudogene 2 Keratin associated proteins 619 2003-12-01 2010-01-06 2010-01-06 2018-01-31 387276 ENSG00000249387 OTTHUMG00000057584 NG_027925 15144888 HGNC:23608 +HGNC:27877 KRTAP5-AS1 KRTAP5-1/KRTAP5-2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Antisense RNAs 1987 2013-05-31 2018-06-20 338651 ENSG00000233930 OTTHUMG00000165546 NR_021489 28819095 KRTAP5-AS1 HGNC:27877 +HGNC:18931 KRTAP6-1 keratin associated protein 6-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "KAP6.1|C21orf103" Keratin associated proteins 619 2003-02-21 2016-10-05 337966 ENSG00000184724 OTTHUMG00000057788 uc002yop.4 AP001708 NM_181602 CCDS13602 Q3LI64 12359730 "MGI:1915734|MGI:3711943" HGNC:18931 +HGNC:18932 KRTAP6-2 keratin associated protein 6-2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP6.2 Keratin associated proteins 619 2003-02-21 2016-10-05 337967 ENSG00000186930 OTTHUMG00000057794 uc011adc.3 AP001708 NM_181604 CCDS13600 Q3LI66 12359730 "MGI:1915734|MGI:3711943" HGNC:18932 +HGNC:18933 KRTAP6-3 keratin associated protein 6-3 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP6.3 Keratin associated proteins 619 2003-02-21 2016-10-05 337968 ENSG00000212938 OTTHUMG00000057791 uc002yom.4 AP001708 NM_181605 CCDS77622 Q3LI67 12359730 RGD:7637527 HGNC:18933 "ENST00000391624.1|NM_181605.4" +HGNC:18934 KRTAP7-1 keratin associated protein 7-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP7.1 keratin associated protein 7-1 (gene/pseudogene) Keratin associated proteins 619 2003-02-20 2020-05-01 2020-05-01 337878 ENSG00000274749 OTTHUMG00000188305 uc032pxy.2 AJ457063 NM_181606 CCDS74780 Q8IUC3 12359730 MGI:1918613 RGD:1560879 HGNC:18934 "ENST00000621162.1|NM_181606.3" +HGNC:18935 KRTAP8-1 keratin associated protein 8-1 protein-coding gene gene with protein product Approved 21q22.1 21q22.1 KAP8.1 Keratin associated proteins 619 2003-02-20 2015-08-25 337879 ENSG00000183640 OTTHUMG00000057771 uc002you.3 AJ457064 NM_175857 CCDS13607 Q8IUC2 12359730 MGI:1330293 RGD:2323315 HGNC:18935 "ENST00000329621.6|NM_175857.4" +HGNC:18948 KRTAP8-2P keratin associated protein 8-2, pseudogene pseudogene pseudogene Approved 21q22.11 21q22.11 KAP8A KRTAP8P1 keratin associated protein 8 pseudogene 1 Keratin associated proteins 619 2003-02-21 2010-01-06 2010-01-06 2016-10-05 337980 ENSG00000233036 OTTHUMG00000057797 AP001709 NG_002669 12359730 HGNC:18948 +HGNC:18949 KRTAP8-3P keratin associated protein 8-3, pseudogene pseudogene pseudogene Approved 21q22.11 21q22.11 KAP8B KRTAP8P2 keratin associated protein 8 pseudogene 2 Keratin associated proteins 619 2003-02-21 2010-01-06 2010-01-06 2016-10-05 337981 ENSG00000227840 OTTHUMG00000057781 AP001709 NG_002670 12359730 HGNC:18949 +HGNC:18912 KRTAP9-1 keratin associated protein 9-1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP9.1 KRTAP9L3 keratin associated protein 9-like 3 Keratin associated proteins 619 2002-11-19 2015-09-03 728318 ENSG00000240542 OTTHUMG00000133636 uc021txf.1 AC006070 NM_001190460 CCDS56029 A8MXZ3 "MGI:1309997|MGI:1922836|MGI:3650331|MGI:3650333|MGI:3652067" HGNC:18912 "ENST00000398470.1|NM_001190460.1" +HGNC:16926 KRTAP9-2 keratin associated protein 9-2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP9.2 Keratin associated proteins 619 2002-08-09 2015-09-03 83899 ENSG00000239886 OTTHUMG00000133609 uc002hwf.3 AJ406946 NM_031961 CCDS32651 Q9BYQ4 11279113 "MGI:1309997|MGI:1922836|MGI:3650331|MGI:3650333|MGI:3652067" RGD:1593000 HGNC:16926 "ENST00000377721.3|NM_031961.3" +HGNC:16927 KRTAP9-3 keratin associated protein 9-3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP9.3 Keratin associated proteins 619 2002-08-09 2015-09-03 83900 ENSG00000204873 OTTHUMG00000133427 uc021txg.1 AJ406947 NM_031962 CCDS11385 Q9BYQ3 11279113 "MGI:1309997|MGI:1922836|MGI:3650331|MGI:3650333|MGI:3652067" HGNC:16927 "ENST00000411528.4|NM_031962.3" +HGNC:18902 KRTAP9-4 keratin associated protein 9-4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP9.4 Keratin associated proteins 619 2002-08-09 2015-09-03 85280 ENSG00000241595 OTTHUMG00000133438 uc002hwi.3 AJ406948 NM_033191 CCDS11386 Q9BYQ2 11279113 "MGI:1309997|MGI:1922836|MGI:3650331|MGI:3650333|MGI:3652067" HGNC:18902 "ENST00000334109.3|NM_033191.3" +HGNC:18914 KRTAP9-6 keratin associated protein 9-6 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP9.6 KRTAP9L2 keratin associated protein 9-like 2 Keratin associated proteins 619 2002-08-09 2020-04-20 100507608 ENSG00000212659 OTTHUMG00000133600 uc031rag.2 AC006070 NM_001277331 CCDS59286 A8MVA2 "MGI:1309997|MGI:1922836|MGI:3650331|MGI:3650333|MGI:3652067" HGNC:18914 +HGNC:18915 KRTAP9-7 keratin associated protein 9-7 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP9.7 KRTAP9L1 keratin associated protein 9-like 1 Keratin associated proteins 619 2002-08-09 2020-04-20 100505724 ENSG00000180386 OTTHUMG00000133605 uc031rah.2 AC006070 NM_001277332 CCDS59287 A8MTY7 "MGI:1309997|MGI:1922836|MGI:3650331|MGI:3650333|MGI:3652067" RGD:1592933 HGNC:18915 +HGNC:17231 KRTAP9-8 keratin associated protein 9-8 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP9.8 Keratin associated proteins 619 2002-08-09 2015-09-03 83901 ENSG00000187272 OTTHUMG00000133604 uc002hwh.5 AJ406950 NM_031963 CCDS42334 Q9BYQ0 11279113 "MGI:1309997|MGI:1922836|MGI:3650331|MGI:3650333|MGI:3652067" HGNC:17231 "ENST00000254072.7|NM_031963.3" +HGNC:16773 KRTAP9-9 keratin associated protein 9-9 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KAP9.9|KAP9.5" KRTAP9-5 keratin associated protein 9-5 Keratin associated proteins 619 2002-08-09 2018-01-31 81870 ENSG00000198083 OTTHUMG00000133602 uc021txh.1 AJ406951 NM_030975 CCDS54127 Q9BYP9 11279113 "MGI:1309997|MGI:1922836|MGI:3650331|MGI:3650333|MGI:3652067" RGD:11470817 HGNC:16773 +HGNC:34210 KRTAP9-10P keratin associated protein 9-10, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 Keratin associated proteins 619 2013-06-20 2013-06-20 106480422 ENSG00000237183 OTTHUMG00000133663 NG_045368 HGNC:34210 +HGNC:18918 KRTAP9-11P keratin associated protein 9-11, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 KAP9A KRTAP9P1 keratin associated protein 9 pseudogene 1 Keratin associated proteins 619 2002-08-09 2010-01-06 2010-01-06 2012-03-14 85347 ENSG00000229351 OTTHUMG00000133608 AC006070 NG_000942 PGOHUM00000237391 HGNC:18918 +HGNC:48873 KRTAP9-12P keratin associated protein 9-12, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 2013-06-20 2018-01-31 100287715 ENSG00000248807 OTTHUMG00000133633 NG_022467 PGOHUM00000237390 HGNC:48873 +HGNC:22966 KRTAP10-1 keratin associated protein 10-1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KAP10.1|KAP18.1" KRTAP18-1 Keratin associated proteins 619 2003-08-06 2020-04-20 386677 ENSG00000215455 OTTHUMG00000057627 uc002zfh.2 AJ566380 NM_198691 CCDS42954 P60331 "MGI:3645300|MGI:3779678|MGI:3780866|MGI:5011587|MGI:5011853" HGNC:22966 "ENST00000400375.1|NM_198691.3" +HGNC:22967 KRTAP10-2 keratin associated protein 10-2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KAP10.2|KAP18.2" KRTAP18-2 Keratin associated proteins 619 2003-08-06 2020-04-20 386679 ENSG00000205445 OTTHUMG00000057625 uc002zfi.2 AJ566381 NM_198693 CCDS42955 P60368 "MGI:3780866|MGI:5011587" HGNC:22967 "ENST00000391621.1|NM_198693.4" +HGNC:22968 KRTAP10-3 keratin associated protein 10-3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KAP10.3|KAP18.3" KRTAP18-3 Keratin associated proteins 619 2003-08-06 2020-04-20 386682 ENSG00000212935 OTTHUMG00000057628 uc002zfj.2 AJ566383 NM_198696 CCDS42956 P60369 "MGI:1925013|MGI:3645300|MGI:3704118|MGI:3779677|MGI:3779678|MGI:3779918|MGI:3780046|MGI:3780866|MGI:3781411|MGI:3781416|MGI:3781428|MGI:3781463|MGI:5011587" HGNC:22968 "ENST00000391620.2|NM_198696.3" +HGNC:20521 KRTAP10-4 keratin associated protein 10-4 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KRTAP18.4|KAP10.4" KRTAP18-4 keratin associated protein 18-4 Keratin associated proteins 619 2003-11-21 2004-07-14 2004-07-12 2015-09-03 386672 ENSG00000215454 OTTHUMG00000057641 uc002zfk.2 AB076351 NM_198687 CCDS42957 P60372 "MGI:3779678|MGI:3781411|MGI:3781416|MGI:3781428|MGI:5011587" HGNC:20521 "ENST00000400374.4|NM_198687.2" +HGNC:22969 KRTAP10-5 keratin associated protein 10-5 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KAP10.5|KAP18.5" KRTAP18-5 Keratin associated proteins 619 2003-08-06 2020-04-20 386680 ENSG00000241123 OTTHUMG00000057638 uc002zfl.2 AJ566384 NM_198694 CCDS42958 P60370 "MGI:3779678|MGI:5011587|MGI:5011853" HGNC:22969 "ENST00000400372.1|NM_198694.3" +HGNC:20523 KRTAP10-6 keratin associated protein 10-6 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KRTAP18.6|KAP18.6|KAP10.6" KRTAP18-6 keratin associated protein 18-6 Keratin associated proteins 619 2003-11-21 2004-07-14 2004-07-12 2015-09-03 386674 ENSG00000188155 OTTHUMG00000057634 uc032qbq.1 AB076353 NM_198688 CCDS42959 P60371 "MGI:3779678|MGI:3780866|MGI:3781411|MGI:3781416|MGI:3781428|MGI:5011587" HGNC:20523 "ENST00000400368.1|NM_198688.3" +HGNC:22970 KRTAP10-7 keratin associated protein 10-7 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KAP10.7|KAP18.7" KRTAP18-7 Keratin associated proteins 619 2003-08-06 2020-04-20 386675 ENSG00000272804 OTTHUMG00000188307 uc032qbr.1 AJ566385 NM_198689 CCDS74803 P60409 "MGI:3645300|MGI:3779678|MGI:3780866" HGNC:22970 "ENST00000609664.2|NM_198689.3" +HGNC:20525 KRTAP10-8 keratin associated protein 10-8 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KRTAP18.8|KAP10.8" KRTAP18-8 keratin associated protein 18-8 Keratin associated proteins 619 2003-11-21 2004-07-14 2004-07-12 2015-09-03 386681 ENSG00000187766 OTTHUMG00000057632 uc002zfo.1 AB076355 NM_198695 CCDS13713 P60410 "MGI:3704118|MGI:3779677|MGI:3779678|MGI:3779918|MGI:3780046|MGI:3781411|MGI:3781416|MGI:3781428|MGI:3781463|MGI:5011853" HGNC:20525 "ENST00000334662.2|NM_198695.2" +HGNC:22971 KRTAP10-9 keratin associated protein 10-9 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KAP10.9|KAP18.9" KRTAP18-9 Keratin associated proteins 619 2003-08-06 2020-04-20 386676 ENSG00000221837 OTTHUMG00000057637 uc002zfp.5 AJ566386 NM_198690 CCDS42961 P60411 RGD:1596032 HGNC:22971 "ENST00000397911.5|NM_198690.3" +HGNC:22972 KRTAP10-10 keratin associated protein 10-10 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KAP10.10|KAP18.10|KRTAP18-10" Keratin associated proteins 619 2003-08-06 2015-09-03 353333 ENSG00000221859 OTTHUMG00000057631 uc002zfq.3 AJ566387 NM_181688 CCDS33585 P60014 "MGI:1925013|MGI:3704118|MGI:3779677|MGI:3779678|MGI:3780046|MGI:3780866|MGI:3781411|MGI:3781416|MGI:3781428|MGI:3781463|MGI:5011587" HGNC:22972 "ENST00000380095.2|NM_181688.3" +HGNC:20528 KRTAP10-11 keratin associated protein 10-11 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KRTAP18.11|KAP18.11|KAP10.11" KRTAP18-11 keratin associated protein 18-11 Keratin associated proteins 619 2003-11-21 2004-07-14 2004-07-12 2017-12-06 386678 ENSG00000243489 OTTHUMG00000057626 uc002zfr.5 AB076359 NM_198692 CCDS42962 P60412 "MGI:3645300|MGI:3779678|MGI:3780866|MGI:3781411|MGI:5011587|MGI:5011853" HGNC:20528 "ENST00000334670.9|NM_198692.3" +HGNC:20533 KRTAP10-12 keratin associated protein 10-12 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KRTAP18.12|KAP10.12" KRTAP18-12 keratin associated protein 18-12 Keratin associated proteins 619 2003-11-21 2004-07-14 2004-07-12 2015-09-03 386685 ENSG00000189169 OTTHUMG00000057629 uc002zfw.1 AB076364 NM_198699 CCDS42967 P60413 "MGI:3704118|MGI:3779677|MGI:3779678|MGI:3779918|MGI:3780046|MGI:3781411|MGI:3781416|MGI:3781428|MGI:3781463|MGI:5011853" HGNC:20533 "ENST00000400365.3|NM_198699.1" +HGNC:34213 KRTAP10-13P keratin associated protein 10-13, pseudogene pseudogene pseudogene Approved 21q22.3 21q22.3 Keratin associated proteins 619 2010-09-30 2014-11-19 100874224 ENSG00000236382 OTTHUMG00000057640 NG_033806 HGNC:34213 +HGNC:18922 KRTAP11-1 keratin associated protein 11-1 protein-coding gene gene with protein product Approved 21q22.1 21q22.1 KAP11.1 Keratin associated proteins 619 2003-02-20 2014-11-19 337880 ENSG00000182591 OTTHUMG00000057773 uc002yov.4 AJ457065 NM_175858 CCDS13608 Q8IUC1 12359730 MGI:99447 RGD:2323257 600064 HGNC:18922 "ENST00000332378.6|NM_175858.3" +HGNC:20529 KRTAP12-1 keratin associated protein 12-1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KRTAP12.1|KAP12.1" Keratin associated proteins 619 2003-08-06 2015-09-03 353332 ENSG00000187175 OTTHUMG00000057639 uc002zfv.3 AJ566388 NM_181686 CCDS42966 P59990 MGI:1328315 RGD:9255939 HGNC:20529 "ENST00000391617.1|NM_181686.2" +HGNC:20530 KRTAP12-2 keratin associated protein 12-2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KRTAP12.2|KAP12.2" Keratin associated proteins 619 2003-08-06 2015-09-03 353323 ENSG00000221864 OTTHUMG00000057636 uc002zfu.3 AJ566389 NM_181684 CCDS42965 P59991 "MGI:1328315|MGI:3641725|MGI:3641784|MGI:3642388" RGD:2319746 HGNC:20530 "ENST00000360770.3|NM_181684.3" +HGNC:20531 KRTAP12-3 keratin associated protein 12-3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 KRTAP12.3 Keratin associated proteins 619 2003-11-21 2015-09-03 386683 ENSG00000205439 OTTHUMG00000057630 uc002zft.3 AB076361 NM_198697 CCDS42964 P60328 "MGI:1328315|MGI:3641725|MGI:3642388" HGNC:20531 "ENST00000397907.1|NM_198697.2" +HGNC:20532 KRTAP12-4 keratin associated protein 12-4 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 KRTAP12.4 Keratin associated proteins 619 2003-11-21 2015-09-03 386684 ENSG00000212933 OTTHUMG00000057633 uc002zfs.1 AB076360 NM_198698 CCDS42963 P60329 "MGI:1328315|MGI:3641725|MGI:3642388" HGNC:20532 "ENST00000391618.1|NM_198698.1" +HGNC:34212 KRTAP12-5P keratin associated protein 12-5, pseudogene pseudogene pseudogene Approved 21q22.3 21q22.3 Keratin associated proteins 619 2013-06-20 2016-02-03 112552144 PGOHUM00000239185 +HGNC:53815 KRTAP12-6P keratin associated protein 12-6, pseudogene pseudogene pseudogene Approved 21q22.3 21q22.3 KRTAP12p1 Keratin associated proteins 619 2018-01-31 2018-01-31 112268487 ENSG00000276647 OTTHUMG00000187956 NG_033806 18721477 PGOHUM00000297390 HGNC:53815 +HGNC:18924 KRTAP13-1 keratin associated protein 13-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP13.1 Keratin associated proteins 619 2003-02-20 2020-04-20 140258 ENSG00000198390 OTTHUMG00000057800 uc002yoa.4 AJ457066 NM_181599 CCDS13590 Q8IUC0 12359730 "MGI:1916911|MGI:2146359" RGD:2323555 608718 HGNC:18924 "ENST00000355459.4|NM_181599.3" +HGNC:18923 KRTAP13-2 keratin associated protein 13-2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP13-2 Keratin associated proteins 619 2003-02-21 2016-10-05 337959 ENSG00000182816 OTTHUMG00000057793 uc002ynz.5 AP001708 NM_181621 CCDS13589 Q52LG2 12359730 "MGI:1916911|MGI:2146359" RGD:1559597 HGNC:18923 "ENST00000399889.4|NM_181621.4" +HGNC:18925 KRTAP13-3 keratin associated protein 13-3 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP13.3 Keratin associated proteins 619 2003-02-21 2016-10-05 337960 ENSG00000240432 OTTHUMG00000057776 uc002yob.2 AP001708 NM_181622 CCDS13591 Q3SY46 12359730 "MGI:1330835|MGI:1916946|MGI:2146359|MGI:2152338" HGNC:18925 +HGNC:18926 KRTAP13-4 keratin associated protein 13-4 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP13.4 Keratin associated proteins 619 2003-02-21 2016-10-05 284827 ENSG00000186971 OTTHUMG00000057770 uc011acw.3 AP001708 NM_181600 CCDS13592 Q3LI77 12359730 MGI:2146359 HGNC:18926 +HGNC:18929 KRTAP13-5P keratin associated protein 13-5, pseudogene pseudogene pseudogene Approved 21q22.11 21q22.11 KAP13A KRTAP13P1 keratin associated protein 13 pseudogene 1 Keratin associated proteins 619 2003-02-21 2009-12-17 2009-12-17 2016-10-05 337964 ENSG00000233640 OTTHUMG00000057795 AP001708 NG_002667 12359730 PGOHUM00000239063 HGNC:18929 +HGNC:18930 KRTAP13-6P keratin associated protein 13-6, pseudogene pseudogene pseudogene Approved 21q22.11 21q22.11 KAP13B KRTAP13P2 keratin associated protein 13 pseudogene 2 Keratin associated proteins 619 2003-02-21 2009-12-17 2009-12-17 2016-10-05 337965 ENSG00000250973 OTTHUMG00000057780 AP001708 NG_002668 12359730 HGNC:18930 +HGNC:18927 KRTAP15-1 keratin associated protein 15-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP15.1 Keratin associated proteins 619 2003-02-21 2018-01-31 254950 ENSG00000186970 OTTHUMG00000057784 uc002yod.4 AP001708 NM_181623 CCDS13593 Q3LI76 12359730 MGI:1347350 RGD:1311088 HGNC:18927 "ENST00000334067.5|NM_181623.3" +HGNC:18916 KRTAP16-1 keratin associated protein 16-1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP16.1 Keratin associated proteins 619 2002-11-19 2020-04-20 100505753 ENSG00000212657 OTTHUMG00000133640 uc021txi.1 AP001708 NM_001146182 CCDS56032 A8MUX0 MGI:3650326 RGD:2318578 HGNC:18916 "ENST00000391352.2|NM_001146182.2" +HGNC:18917 KRTAP17-1 keratin associated protein 17-1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP17.1 Keratin associated proteins 619 2002-08-09 2015-09-03 83902 ENSG00000186860 OTTHUMG00000133433 uc002hwj.3 AJ406952 NM_031964 CCDS11387 Q9BYP8 MGI:1925164 RGD:7611738 HGNC:18917 "ENST00000334202.5|NM_031964.2" +HGNC:18936 KRTAP19-1 keratin associated protein 19-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP19.1 Keratin associated proteins 619 2003-02-20 2018-04-25 337882 ENSG00000184351 OTTHUMG00000057768 uc011acx.3 AJ457067 NM_181607 CCDS13594 Q8IUB9 12359730 "MGI:1330295|MGI:1918619|MGI:1925168|MGI:2157572|MGI:2157757" HGNC:18936 "ENST00000390689.3|NM_181607.3" +HGNC:18937 KRTAP19-2 keratin associated protein 19-2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP19.2 Keratin associated proteins 619 2003-02-21 2016-10-05 337969 ENSG00000186965 OTTHUMG00000057772 uc011acy.3 AP001708 NM_181608 CCDS13595 Q3LHN2 12359730 HGNC:18937 "ENST00000334055.5|NM_181608.2" +HGNC:18938 KRTAP19-3 keratin associated protein 19-3 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP19.3 Keratin associated proteins 619 2003-02-21 2016-10-05 337970 ENSG00000244025 OTTHUMG00000057782 uc061zmf.1 AP001708 NM_181609 CCDS13596 Q7Z4W3 12359730 "MGI:1330295|MGI:1918619|MGI:1925168|MGI:2157572|MGI:2157757" HGNC:18938 "ENST00000334063.6|NM_181609.4" +HGNC:18939 KRTAP19-4 keratin associated protein 19-4 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP19.4 Keratin associated proteins 619 2003-02-21 2016-10-05 337971 ENSG00000186967 OTTHUMG00000057767 uc011acz.3 AP001708 NM_181610 CCDS33534 Q3LI73 12359730 "MGI:1330295|MGI:1918619|MGI:1925168|MGI:2157572|MGI:2157757" HGNC:18939 "ENST00000334058.3|NM_181610.3" +HGNC:18940 KRTAP19-5 keratin associated protein 19-5 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP19.5 Keratin associated proteins 619 2003-02-21 2016-10-05 337972 ENSG00000186977 OTTHUMG00000057774 uc011ada.3 AP001708 NM_181611 CCDS13597 Q3LI72 12359730 "MGI:1330295|MGI:1918619|MGI:1925168|MGI:2157572|MGI:2157757" HGNC:18940 "ENST00000334151.3|NM_181611.3" +HGNC:18941 KRTAP19-6 keratin associated protein 19-6 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP19.6 Keratin associated proteins 619 2003-02-21 2016-10-05 337973 ENSG00000186925 OTTHUMG00000057779 uc002yok.2 AP001708 NM_181612 CCDS13598 Q3LI70 12359730 "MGI:1330295|MGI:1918619|MGI:1925168|MGI:2157572|MGI:2157757" HGNC:18941 "ENST00000334046.5|NM_181612.3" +HGNC:18942 KRTAP19-7 keratin associated protein 19-7 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP19.7 Keratin associated proteins 619 2003-02-21 2016-10-05 337974 ENSG00000244362 OTTHUMG00000057785 uc061zmg.1 AP001708 NM_181614 CCDS13599 Q3SYF9 12359730 "MGI:1330295|MGI:1918619|MGI:1925168|MGI:2157572|MGI:2157757" RGD:1588263 HGNC:18942 "ENST00000334849.2|NM_181614.3" +HGNC:33898 KRTAP19-8 keratin associated protein 19-8 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 Keratin associated proteins 619 2007-11-23 2018-01-31 728299 ENSG00000206102 OTTHUMG00000057787 uc010glt.3 AB096964 NM_001099219 CCDS42917 Q3LI54 18721477 "MGI:1330295|MGI:1918619|MGI:1925168|MGI:2157572|MGI:2157757" HGNC:33898 "ENST00000382822.2|NM_001099219.1" +HGNC:18950 KRTAP19-9P keratin associated protein 19-9, pseudogene pseudogene pseudogene Approved 21q22.11 21q22.11 KAP19A KRTAP19P1 keratin associated protein 19 pseudogene 1 Keratin associated proteins 619 2003-02-21 2009-12-17 2009-12-17 2016-10-05 337982 ENSG00000237841 OTTHUMG00000057789 AP001708 NG_002688 12359730 HGNC:18950 +HGNC:18951 KRTAP19-10P keratin associated protein 19-10, pseudogene pseudogene pseudogene Approved 21q22.11 21q22.11 KAP19B KRTAP19P2 keratin associated protein 19 pseudogene 2 Keratin associated proteins 619 2003-02-21 2009-12-17 2009-12-17 2016-10-05 337983 ENSG00000235312 OTTHUMG00000057775 AP001708 NG_002689 12359730 HGNC:18951 +HGNC:18952 KRTAP19-11P keratin associated protein 19-11, pseudogene pseudogene pseudogene Approved 21q22.11 21q22.11 KAP19C KRTAP19P3 keratin associated protein 19 pseudogene 3 Keratin associated proteins 619 2003-02-21 2009-12-17 2009-12-17 2016-10-05 337984 ENSG00000236612 OTTHUMG00000057799 AP001708 NG_002671 12359730 HGNC:18952 +HGNC:18943 KRTAP20-1 keratin associated protein 20-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP20.1 Keratin associated proteins 619 2003-02-21 2016-10-05 337975 ENSG00000244624 OTTHUMG00000057801 uc011ade.3 AP001708 NM_181615 CCDS13603 Q3LI63 12359730 "MGI:1916148|MGI:3649168" RGD:7729737 HGNC:18943 "ENST00000334664.3|NM_181615.2" +HGNC:18944 KRTAP20-2 keratin associated protein 20-2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP20.2 Keratin associated proteins 619 2003-02-21 2016-10-05 337976 ENSG00000184032 OTTHUMG00000057786 uc011adg.3 AP001708 NM_181616 CCDS13604 Q3LI61 12359730 "MGI:1916148|MGI:3649168" HGNC:18944 "ENST00000330798.3|NM_181616.3" +HGNC:34001 KRTAP20-3 keratin associated protein 20-3 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "KAP20.3|KAP19D" KRTAP19P4 keratin associated protein 19 pseudogene 4 Keratin associated proteins 619 2008-02-26 2008-02-26 2020-04-20 337985 ENSG00000206104 OTTHUMG00000057798 uc010gls.1 NM_001128077 CCDS46642 Q3LI60 HGNC:34001 "ENST00000382826.2|NM_001128077.1" +HGNC:34002 KRTAP20-4 keratin associated protein 20-4 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP20.4 Keratin associated proteins 619 2008-02-26 2008-04-22 2008-02-26 2021-03-08 100151643 ENSG00000206105 OTTHUMG00000125519 uc011adf.2 NM_001350977 CCDS86982 Q3LI62 HGNC:34002 "ENST00000382828.2|NM_001350977.1" +HGNC:18945 KRTAP21-1 keratin associated protein 21-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP21.1 Keratin associated proteins 619 2003-02-21 2016-10-05 337977 ENSG00000187005 OTTHUMG00000057777 uc011adi.3 AP001709 NM_181619 CCDS13606 Q3LI58 12359730 HGNC:18945 "ENST00000335093.5|NM_181619.2" +HGNC:18946 KRTAP21-2 keratin associated protein 21-2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP21.2 Keratin associated proteins 619 2003-02-21 2016-10-05 337978 ENSG00000187026 OTTHUMG00000057769 uc011adh.3 AP001709 NM_181617 CCDS13605 Q3LI59 12359730 HGNC:18946 "ENST00000333892.3|NM_181617.3" +HGNC:34216 KRTAP21-3 keratin associated protein 21-3 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 Keratin associated proteins 619 2009-07-20 2018-01-31 100288323 ENSG00000231068 OTTHUMG00000125533 uc021wii.1 AB180042 NM_001164435 CCDS54481 Q3LHN1 HGNC:34216 "ENST00000444335.1|NM_001164435.1" +HGNC:18954 KRTAP21-4P keratin associated protein 21-4, pseudogene pseudogene pseudogene Approved 21q22.11 21q22.11 KAP21A KRTAP21P1 keratin associated protein 21 pseudogene 1 Keratin associated proteins 619 2003-02-21 2010-01-06 2010-01-06 2016-10-05 337986 ENSG00000236400 OTTHUMG00000057790 AP001709 NG_002673 12359730 HGNC:18954 +HGNC:18947 KRTAP22-1 keratin associated protein 22-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP22.1 Keratin associated proteins 619 2003-02-21 2018-01-31 337979 ENSG00000186924 OTTHUMG00000057778 uc011add.3 AP001708 NM_181620 CCDS13601 Q3MIV0 12359730 RGD:7637203 HGNC:18947 "ENST00000334680.3|NM_181620.2" +HGNC:37091 KRTAP22-2 keratin associated protein 22-2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP22.2 Keratin associated proteins 619 2009-07-20 2018-11-16 100288287 ENSG00000206106 OTTHUMG00000065630 uc021wih.1 AB096950 NM_001164434 CCDS46641 Q3LI68 HGNC:37091 "ENST00000382830.2|NM_001164434.1" +HGNC:18928 KRTAP23-1 keratin associated protein 23-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP23.1 Keratin associated proteins 619 2003-02-21 2018-01-31 337963 ENSG00000186980 OTTHUMG00000057792 uc002yny.2 AP001708 NM_181624 CCDS33533 A1A580 12359730 RGD:1564302 HGNC:18928 "ENST00000334160.6|NM_181624.1" +HGNC:33902 KRTAP24-1 keratin associated protein 24-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP24.1 Keratin associated proteins 619 2007-11-23 2015-08-25 643803 ENSG00000188694 OTTHUMG00000125483 uc002ynv.3 AB096935 NM_001085455 CCDS42915 Q3LI83 MGI:2685158 RGD:2320810 618927 HGNC:33902 "ENST00000340345.6|NM_001085455.3" +HGNC:34003 KRTAP25-1 keratin associated protein 25-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 KAP25.1 Keratin associated proteins 619 2008-02-26 2008-04-22 2008-02-26 2016-10-05 100131902 ENSG00000232263 OTTHUMG00000125482 uc010glr.1 NM_001128598 CCDS46640 Q3LHN0 HGNC:34003 "ENST00000416044.1|NM_001128598.1" +HGNC:33760 KRTAP26-1 keratin associated protein 26-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 Keratin associated proteins 619 2007-11-23 2015-08-25 388818 ENSG00000197683 OTTHUMG00000057766 uc002ynw.5 AB096936 NM_203405 CCDS13588 Q6PEX3 MGI:1916783 RGD:1589096 HGNC:33760 "ENST00000360542.5|NM_203405.2" +HGNC:33864 KRTAP27-1 keratin associated protein 27-1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 Keratin associated proteins 619 2007-11-23 2015-09-03 643812 ENSG00000206107 OTTHUMG00000059577 uc002ynx.1 AB096937 NM_001077711 CCDS33532 Q3LI81 MGI:3646229 RGD:2320648 HGNC:33864 "ENST00000382835.2|NM_001077711.1" +HGNC:34211 KRTAP29-1 keratin associated like protein 29-1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 KAP29.2 keratin associated protein 29-1 Keratin associated proteins 619 2009-07-23 2018-11-09 2018-11-09 100533177 ENSG00000212658 OTTHUMG00000133662 uc031rai.1 NM_001257309 CCDS62183 A8MX34 18721477 MGI:3652056 RGD:7516956 HGNC:34211 "ENST00000391353.1|NM_001257309.1" +HGNC:28942 KRTCAP2 keratinocyte associated protein 2 protein-coding gene gene with protein product Approved 1q22 01q22 KCP2 Oligosaccharyltransferase complex subunits 445 2004-02-05 2016-03-01 200185 ENSG00000163463 OTTHUMG00000013904 uc001fho.4 AY157577 NM_173852 CCDS1096 Q8N6L1 "15835887|22266900" MGI:1913309 RGD:1308413 619029 HGNC:28942 "ENST00000295682.6|NM_173852.4" +HGNC:54589 KRTCAP2P1 KRTCAP2 pseudogene 1 pseudogene pseudogene Approved 2p21 02p21 2019-10-16 2019-10-16 730043 ENSG00000231848 NG_032053 +HGNC:28943 KRTCAP3 keratinocyte associated protein 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 KCP3 2004-02-05 2014-11-19 200634 ENSG00000157992 OTTHUMG00000097782 uc021vfd.1 AY157576 NM_173853 CCDS1754 Q53RY4 MGI:1917065 RGD:1596516 619261 HGNC:28943 "ENST00000288873.7|NM_173853.4" +HGNC:16313 KRTDAP keratinocyte differentiation associated protein protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "KDAP|UNQ467" 2001-10-03 2016-02-15 2016-02-15 388533 ENSG00000188508 OTTHUMG00000155449 uc002nzh.4 AA297512 NM_001244847 "CCDS59377|CCDS12462" P60985 11054531 MGI:1928282 RGD:71086 617212 HGNC:16313 "ENST00000338897.4|NM_207392.3" +HGNC:6465 KSR1 kinase suppressor of ras 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 RSU2 KSR kinase suppressor of ras RAF family 1157 2000-03-29 2005-12-14 2005-12-14 2015-07-15 8844 ENSG00000141068 OTTHUMG00000132051 uc002gzo.2 U43586 NM_014238 CCDS58532 Q8IVT5 8521512 MGI:105051 RGD:1308105 601132 objectId:2051 HGNC:6465 "ENST00000644974.2|NM_001394583.1" +HGNC:44977 KSR1P1 kinase suppressor of ras 1 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 2012-12-20 2012-12-20 106479050 ENSG00000229485 OTTHUMG00000018006 NG_044498 PGOHUM00000258466 HGNC:44977 +HGNC:18610 KSR2 kinase suppressor of ras 2 protein-coding gene gene with protein product Approved 12q24.22-q24.23 12q24.22-q24.23 FLJ25965 RAF family 1157 2005-01-18 2018-02-13 283455 ENSG00000171435 OTTHUMG00000169020 uc001two.2 AY345972 NM_173598 CCDS61250 Q6VAB6 12471243 MGI:3610315 RGD:1562674 610737 objectId:2052 HGNC:18610 "ENST00000339824.7|NM_173598.6" +HGNC:25160 KTI12 KTI12 chromatin associated homolog protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "TOT4|MGC20419|SBBI81" KTI12 homolog, chromatin associated (S. cerevisiae) 2005-08-01 2015-07-03 2015-07-03 112970 ENSG00000198841 OTTHUMG00000008630 uc001ctj.2 NM_138417 CCDS562 Q96EK9 11929532 MGI:1923547 RGD:1591357 HGNC:25160 "ENST00000371614.2|NM_138417.3" +HGNC:6467 KTN1 kinectin 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "KIAA0004|CG1|KNT" kinectin 1 (kinesin receptor) 1997-05-22 2015-11-23 2015-11-23 3895 ENSG00000126777 OTTHUMG00000140312 uc001xcc.4 NM_001079521 "CCDS41957|CCDS41958|CCDS41959" Q86UP2 9605849 MGI:109153 RGD:1308719 KTN1 600381 HGNC:6467 "ENST00000395314.8|NM_001079521.2" +HGNC:19842 KTN1-AS1 KTN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q22.3 14q22.3 MYCLo-3 C14orf33 "chromosome 14 open reading frame 33|KTN1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2002-11-27 2011-12-07 2012-08-15 2020-04-20 100129075 ENSG00000186615 OTTHUMG00000171057 uc001xbz.3 NR_027123 Q86SY8 "25663692|30551364" KTN1-AS1 HGNC:19842 +HGNC:28420 KXD1 KxDL motif containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ25480|MGC2749|KXDL|BORCS4" BLOC-1 related complex subunit 4 C19orf50 chromosome 19 open reading frame 50 BLOC-1 related complex subunits 1048 2006-08-08 2011-11-24 2011-11-24 2019-06-03 79036 ENSG00000105700 OTTHUMG00000183107 uc021uqq.1 AK098346 NM_024069 CCDS12381 Q9BQD3 21159114 MGI:1922870 RGD:1562866 615178 HGNC:28420 "ENST00000222307.9|NM_024069.4" +HGNC:26576 KY kyphoscoliosis peptidase protein-coding gene gene with protein product Approved 3q22.2 03q22.2 FLJ33207 2004-06-25 2016-10-05 339855 ENSG00000174611 OTTHUMG00000159788 uc010hty.4 AK090526 NM_178554 CCDS46920 Q8NBH2 MGI:96709 RGD:1305407 605739 HGNC:26576 "ENST00000423778.7|NM_178554.6" HGNC:26576 +HGNC:1564 KYAT1 kynurenine aminotransferase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KATI|GTK" "glutamine transaminase K|kynurenine aminotransferase I|Glutamine--phenylpyruvate transaminase" CCBL1 "cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)|cysteine conjugate beta lyase 1" 1995-09-08 2016-04-26 2016-04-26 2020-09-17 883 ENSG00000171097 OTTHUMG00000020767 uc004bwh.5 Y17448 NM_001122671 "CCDS75915|CCDS43884|CCDS48038" Q16773 7883047 MGI:1917516 RGD:1306912 600547 objectId:1445 "2.6.1.64|2.6.1.7|4.4.1.13" HGNC:1564 "ENST00000302586.8|NM_004059.5" +HGNC:33238 KYAT3 kynurenine aminotransferase 3 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "RBM1|RP11-82K18.3|KAT3|KATIII" kynurenine--oxoglutarate transaminase 3 CCBL2 cysteine conjugate beta lyase 2 2007-01-04 2016-04-26 2016-04-26 2016-04-26 56267 ENSG00000137944 OTTHUMG00000010617 uc001dmp.3 AF091090 NM_001008661 "CCDS30766|CCDS30767" Q6YP21 16376499 MGI:2677849 RGD:1359262 610656 "2.6.1.7|2.6.1.63|4.4.1.13" HGNC:33238 "ENST00000260508.9|NM_001008661.3" +HGNC:6469 KYNU kynureninase protein-coding gene gene with protein product Approved 2q22.2 02q22.2 L-kynurenine hydrolase kynureninase (L-kynurenine hydrolase) 1999-09-20 2010-11-23 2021-05-26 8942 ENSG00000115919 OTTHUMG00000131829 uc002tvl.4 U57721 NM_001032998 "CCDS2183|CCDS33299" Q16719 "8706755|9180257|28792876" MGI:1918039 RGD:71061 605197 168099 3.7.1.3 HGNC:6469 "ENST00000264170.9|NM_003937.3" HGNC:6469 +HGNC:39199 KYNUP1 kynureninase pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 2010-11-23 2012-11-19 729321 ENSG00000261987 OTTHUMG00000178493 NG_022445 PGOHUM00000236956 HGNC:39199 +HGNC:39200 KYNUP2 kynureninase pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2010-11-23 2012-10-03 729310 ENSG00000265746 OTTHUMG00000178390 NG_022458 PGOHUM00000237270 HGNC:39200 +HGNC:39201 KYNUP3 kynureninase pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2010-11-23 2012-10-03 729323 ENSG00000263206 OTTHUMG00000059430 NG_022459 PGOHUM00000237271 HGNC:39201 +HGNC:6470 L1CAM L1 cell adhesion molecule protein-coding gene gene with protein product Approved Xq28 Xq28 "CD171|NCAM-L1|CAML1" neural cell adhesion molecule L1 "HSAS1|SPG1|HSAS|MASA|MIC5|S10" antigen identified by monoclonal antibody R1 "CD molecules|Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "471|555|593|1410" 1989-06-30 2003-04-07 2021-05-26 3897 ENSG00000198910 OTTHUMG00000024221 uc031tks.2 M74387 NM_024003 "CCDS14734|CCDS14733|CCDS48192" P32004 MGI:96721 RGD:619777 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/L1CAM|NGRL, Manchester LOVD|http://ngrl.man.ac.uk/lovd2/home.php?select_db=L1CAM|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/L1CAM|LRG_14|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_14.xml" 308840 122948 CD171 HGNC:6470 "ENST00000370060.7|NM_001278116.2" HGNC:6470 +HGNC:55247 L1CAM-AS1 L1CAM antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 LCA10 lung carcinoma-associated 10 Antisense RNAs 1987 2021-09-02 2021-09-02 100996465 ENSG00000273769 NR_130768 15689435 +HGNC:25595 L1TD1 LINE1 type transposase domain containing 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "FLJ10884|ECAT11" 2006-05-19 2016-06-13 2019-02-21 54596 ENSG00000240563 OTTHUMG00000008914 uc001dae.6 BC060808 NM_019079 CCDS619 Q5T7N2 "21559406|22162396" MGI:3578435 RGD:1595093 HGNC:25595 "ENST00000498273.2|NM_019079.5" +HGNC:49127 L1TD1P1 LINE-1 type transposase domain containing 1 pseudogene 1 pseudogene pseudogene Approved 13q33.1 13q33.1 2013-09-09 2013-09-09 100126007 NG_006963 PGOHUM00000248488 HGNC:49127 +HGNC:20499 L2HGDH L-2-hydroxyglutarate dehydrogenase protein-coding gene gene with protein product Approved 14q21.3 14q21.3 FLJ12618 2-hydroxyglutarate dehydrogenase C14orf160 chromosome 14 open reading frame 160 MicroRNA protein coding host genes 1691 2003-10-02 2005-05-25 2005-05-25 2021-05-26 79944 ENSG00000087299 OTTHUMG00000140289 uc010tqn.3 NM_024884 CCDS9698 Q9H9P8 16005139 MGI:2384968 RGD:1306250 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/L2HGDH 609584 122957 1.1.99.2 HGNC:20499 "ENST00000267436.9|NM_024884.3" HGNC:20499 +HGNC:20488 L3HYPDH trans-L-3-hydroxyproline dehydratase protein-coding gene gene with protein product Approved 14q23.1 14q23.1 FLJ25436 C14orf149 "chromosome 14 open reading frame 149|L-3-hydroxyproline dehydratase (trans-)" 2004-06-11 2012-08-15 2016-03-24 2016-03-24 112849 ENSG00000126790 OTTHUMG00000028941 uc001xee.2 AI762327 NM_144581 CCDS9739 Q96EM0 22528483 MGI:1914467 RGD:1305721 614811 4.2.1.77 HGNC:20488 "ENST00000247194.9|NM_144581.2" +HGNC:15905 L3MBTL1 L3MBTL histone methyl-lysine binding protein 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "ZC2HC3|dJ138B7.3|DKFZp586P1522|KIAA0681" lethal (3) malignant brain tumor l(3) L3MBTL "l(3)mbt (Drosophila)-like|l(3)mbt-like (Drosophila)|l(3)mbt-like 1 (Drosophila)|L3MBTL1, histone methyl-lysine binding protein" "Zinc fingers C2HC-type|Sterile alpha motif domain containing|MBT domain containing" "66|760|1263" 2001-06-21 2010-09-03 2019-01-22 2021-04-13 26013 ENSG00000185513 OTTHUMG00000032503 uc002xkl.4 U89358 NM_032107 "CCDS13319|CCDS46602" Q9Y468 "10445843|17540172" MGI:2676663 RGD:1307316 LRG_1049|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1049.xml 608802 HGNC:15905 "ENST00000418998.7|NM_001377303.1" +HGNC:18594 L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "H-l(3)mbt-l|DKFZP761I141|dJ756G23.3" "l(3)mbt-like 2 (Drosophila)|L3MBTL2, polycomb repressive complex 1 subunit" MBT domain containing 1263 2002-04-29 2019-01-22 2019-01-22 83746 ENSG00000100395 OTTHUMG00000150942 uc003azo.4 AJ305226 NM_031488 CCDS14011 Q969R5 "11682070|21596310" MGI:2443584 RGD:1308569 611865 HGNC:18594 "ENST00000216237.10|NM_031488.5" +HGNC:40847 L3MBTL2-AS1 L3MBTL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Antisense RNAs 1987 2019-08-16 2019-08-16 100506544 ENSG00000235513 OTTHUMG00000150943 NR_148200 HGNC:40847 +HGNC:23035 L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 protein-coding gene gene with protein product Approved 6q23.1 06q23.1 KIAA1798 "l(3)mbt-like 3 (Drosophila)|L3MBTL3, histone methyl-lysine binding protein" "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 2003-11-26 2019-01-22 2019-01-22 84456 ENSG00000198945 OTTHUMG00000015554 uc003qbt.4 AB058701 NM_032438 "CCDS34538|CCDS34537" Q96JM7 MGI:2143628 RGD:1305474 618844 objectId:2830 HGNC:23035 "ENST00000361794.7|NM_032438.4" +HGNC:26677 L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "FLJ35936|HsT1031" "l(3)mbt-like 4 (Drosophila)|L3MBTL4, histone methyl-lysine binding protein" "Sterile alpha motif domain containing|MBT domain containing|MicroRNA protein coding host genes" "760|1263|1691" 2004-05-20 2019-01-22 2019-01-22 91133 ENSG00000154655 OTTHUMG00000178980 uc002kmz.4 BC039316 NM_173464 "CCDS11839|CCDS82238" Q8NA19 14702039 MGI:2444889 RGD:1587524 617135 HGNC:26677 "ENST00000317931.12|NM_001330559.2" +HGNC:51320 L3MBTL4-AS1 L3MBTL4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Antisense RNAs 1987 2014-10-02 2014-10-02 101927150 ENSG00000264707 OTTHUMG00000178852 BC040631 NR_110765 L3MBTL4-AS1 HGNC:51320 +HGNC:26789 LACC1 laccase domain containing 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "FLJ38725|FAMIN" fatty acid metabolism–immunity nexus C13orf31 "chromosome 13 open reading frame 31|laccase (multicopper oxidoreductase) domain containing 1" 2006-08-07 2011-08-09 2016-02-01 2020-03-04 144811 ENSG00000179630 OTTHUMG00000016826 uc010acg.4 AK096044 NM_153218 CCDS9391 Q8IV20 "16740638|22504414|27478939" MGI:2445077 RGD:1310185 613409 454001 HGNC:26789 "ENST00000325686.7|NM_153218.4" HGNC:26789 +HGNC:16430 LACRT lacritin protein-coding gene gene with protein product Approved 12q13.2 12q13.2 LACRITIN 2001-08-21 2014-06-13 90070 ENSG00000135413 OTTHUMG00000169936 uc001sgi.2 AF238867 NM_033277 CCDS8883 Q9GZZ8 11419941 607360 HGNC:16430 "ENST00000257867.5|NM_033277.2" +HGNC:16468 LACTB lactamase beta protein-coding gene gene with protein product Approved 15q22.2 15q22.2 FLJ14902 serine beta-lactamase-like protein, mitochondrial MRPL56 mitochondrial ribosomal protein L56 Serine beta lactamase family 1791 2001-08-30 2001-12-14 2015-11-23 2019-12-20 114294 ENSG00000103642 OTTHUMG00000132807 uc002alw.5 AK027808 NM_032857 "CCDS10182|CCDS45275" P83111 "11707067|19858488" MGI:1933395 RGD:1304788 608440 S12.004 HGNC:16468 "ENST00000261893.9|NM_032857.5" +HGNC:18512 LACTB2 lactamase beta 2 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 CGI-83 MBL domain containing glyoxalase 2 subfamily 1614 2004-02-09 2015-11-23 2015-11-23 51110 ENSG00000147592 OTTHUMG00000164430 uc033box.2 AF151841 NM_016027 CCDS6208 Q53H82 MGI:2442551 RGD:1307876 618921 HGNC:18512 "ENST00000276590.5|NM_016027.3" +HGNC:27841 LACTB2-AS1 LACTB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q13.3 08q13.3 Antisense RNAs 1987 2015-03-05 2015-03-05 286190 ENSG00000246366 OTTHUMG00000164429 NR_038881 LACTB2-AS1 HGNC:27841 +HGNC:35445 LACTBL1 lactamase beta like 1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 Serine beta lactamase family 1791 2010-04-08 2015-11-23 2018-11-16 646262 ENSG00000215906 OTTHUMG00000003228 uc057dei.1 NM_001289974 A8MY62 MGI:2448566 HGNC:35445 +HGNC:6472 LAD1 ladinin 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 1998-02-20 2016-10-05 3898 ENSG00000159166 OTTHUMG00000035737 uc284muc.1 U42408 NM_005558 CCDS1410 O00515 "8618013|9119369" MGI:109343 RGD:1310652 602314 HGNC:6472 "ENST00000391967.7|NM_005558.4" +HGNC:6476 LAG3 lymphocyte activating 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 CD223 lymphocyte-activation gene 3 "CD molecules|Immunoglobulin like domain containing" "471|594" 1991-06-03 2016-01-21 2016-10-05 3902 ENSG00000089692 OTTHUMG00000169197 uc001qqt.5 NM_002286 CCDS8561 P18627 MGI:106588 RGD:1302990 153337 objectId:2932 CD223 HGNC:6476 "ENST00000203629.3|NM_002286.6" +HGNC:26058 LAGE3 L antigen family member 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "ITBA2|CVG5|DXS9951E|DXS9879E|ESO3|Pcc1" DNA segment on chromosome X (unique) 9879 expressed sequence L antigen family, member 3 KEOPS complex 1313 2006-07-04 2015-11-18 2016-07-08 8270 ENSG00000196976 OTTHUMG00000033294 uc033fbs.1 X92896 NM_006014 CCDS14753 Q14657 "8786131|22912744" MGI:1913442 RGD:1562476 300060 HGNC:26058 "ENST00000357360.5|NM_006014.5" HGNC:26058 +HGNC:49909 LAGE3P1 L antigen family member 3 pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 L antigen family, member 3 pseudogene 1 2014-03-21 2015-11-18 2015-11-18 646808 ENSG00000225693 OTTHUMG00000019761 NG_030084 PGOHUM00000236011 HGNC:49909 +HGNC:6477 LAIR1 leukocyte associated immunoglobulin like receptor 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "CD305|LAIR-1" "leukocyte-associated Ig-like receptor 1|leukocyte-associated immunoglobulin-like receptor 1" "CD molecules|Immunoglobulin like domain containing" "471|594" 1997-07-25 2016-01-21 2020-10-02 3903 ENSG00000167613 OTTHUMG00000065545 uc032idt.2 AF013249 NM_001289023 "CCDS12892|CCDS74450|CCDS74449|CCDS74448|CCDS12891" Q6GTX8 9285412 MGI:105492 RGD:1560048 602992 objectId:2974 CD305 HGNC:6477 "ENST00000391742.7|NM_002287.6" +HGNC:6478 LAIR2 leukocyte associated immunoglobulin like receptor 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "CD306|LAIR-2" "leukocyte-associated Ig-like receptor 2|leukocyte-associated immunoglobulin-like receptor 2" "CD molecules|Immunoglobulin like domain containing" "471|594" 1997-07-25 2016-01-21 2020-10-02 3904 ENSG00000167618 OTTHUMG00000065697 uc002qgc.4 AF013250 NM_002288 "CCDS12897|CCDS12898" Q6ISS4 9285412 MGI:105492 602993 CD306 HGNC:6478 "ENST00000301202.7|NM_002288.6" +HGNC:6480 LALBA lactalbumin alpha protein-coding gene gene with protein product Approved 12q13.11 12q13.11 LYZL7 lactalbumin, alpha- Lysozymes, c-type 1174 2001-06-22 2016-01-12 2016-01-12 3906 ENSG00000167531 OTTHUMG00000170391 uc001rrt.3 NM_002289 CCDS8765 P00709 MGI:96742 RGD:2987 149750 HGNC:6480 "ENST00000301046.6|NM_002289.3" +HGNC:6481 LAMA1 laminin subunit alpha 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 LAMA laminin, alpha 1 Laminin subunits 626 1989-05-25 2015-11-23 2021-05-26 284217 ENSG00000101680 OTTHUMG00000133478 uc002knm.3 X58531 NM_005559 CCDS32787 P25391 2591971 MGI:99892 RGD:1307207 150320 410692 HGNC:6481 "ENST00000389658.4|NM_005559.4" HGNC:6481 +HGNC:6482 LAMA2 laminin subunit alpha 2 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 "merosin|congenital muscular dystrophy" LAMM laminin, alpha 2 Laminin subunits 626 1992-05-06 2015-11-23 2021-05-26 3908 ENSG00000196569 OTTHUMG00000015545 uc063rgy.1 Z26653 NM_000426 CCDS5138 P24043 "2185464|8294519" MGI:99912 RGD:1308889 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/LAMA2|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LAMA2|LRG_409|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_409.xml" 156225 122961 HGNC:6482 "ENST00000421865.3|NM_000426.4" HGNC:6482 +HGNC:6483 LAMA3 laminin subunit alpha 3 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "nicein-150kDa|kalinin-165kDa|BM600-150kDa|epiligrin" LAMNA "laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)|laminin, alpha 3" Laminin subunits 626 1993-12-14 2015-11-23 2021-05-26 3909 ENSG00000053747 OTTHUMG00000131874 uc002kuq.4 L34155 "NM_000227|NM_198129" "CCDS11880|CCDS42419|CCDS45838|CCDS59307" Q16787 8077230 MGI:99909 RGD:628776 600805 122964 HGNC:6483 "ENST00000313654.14|NM_198129.4" HGNC:6483 +HGNC:6484 LAMA4 laminin subunit alpha 4 protein-coding gene gene with protein product Approved 6q21 06q21 LAMA3 laminin, alpha 4 Laminin subunits 626 1993-07-26 2015-11-23 2021-11-24 3910 ENSG00000112769 OTTHUMG00000015386 uc003pvv.4 NM_001105206 "CCDS34514|CCDS43492|CCDS43491" Q16363 7959779 MGI:109321 RGD:1560062 LRG_433|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_433.xml 600133 333071 HGNC:6484 "ENST00000230538.12|NM_001105206.3" HGNC:6484 +HGNC:40333 LAMA4-AS1 LAMA4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 Antisense RNAs 1987 2019-08-16 2019-08-16 101927640 ENSG00000226440 OTTHUMG00000015392 NR_121193 HGNC:40333 +HGNC:6485 LAMA5 laminin subunit alpha 5 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 laminin alpha5-chain laminin, alpha 5 "Laminin subunits|MicroRNA protein coding host genes" "626|1691" 1997-10-30 2015-11-23 2021-11-24 3911 ENSG00000130702 OTTHUMG00000032908 uc002ycq.5 AF443072 NM_005560 CCDS33502 O15230 9271224 MGI:105382 RGD:621023 601033 470582 HGNC:6485 "ENST00000252999.7|NM_005560.6" HGNC:6485 +HGNC:40334 LAMA5-AS1 LAMA5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2014-06-13 2014-11-19 101928158 ENSG00000228812 OTTHUMG00000032911 NR_109922 LAMA5-AS1 HGNC:40334 +HGNC:6486 LAMB1 laminin subunit beta 1 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 CLM "cutis laxa with marfanoid phenotype|laminin, beta 1" Laminin subunits 626 1986-01-01 2015-11-23 2021-05-26 3912 ENSG00000091136 OTTHUMG00000149966 uc003vew.3 M61916 NM_002291 CCDS5750 P07942 "2563160|2704655|1864606" MGI:96743 RGD:1306311 150240 356176 HGNC:6486 "ENST00000222399.11|NM_002291.3" HGNC:6486 +HGNC:6487 LAMB2 laminin subunit beta 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 NPHS5 laminin S LAMS laminin, beta 2 (laminin S) Laminin subunits 626 1992-05-06 2015-11-23 2021-05-26 3913 ENSG00000172037 OTTHUMG00000156807 uc003cwf.2 NM_002292 CCDS2789 P55268 "2922051|10393422" MGI:99916 RGD:2988 150325 122971 HGNC:6487 "ENST00000305544.9|NM_002292.4" HGNC:6487 +HGNC:6488 LAMB2P1 laminin subunit beta 2 pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 LAMB2L "laminin, beta 2-like|laminin, beta 2 pseudogene 1" 1998-12-11 2010-10-28 2015-11-23 2020-04-03 22973 ENSG00000270441 AJ009558 NR_004405 10393422 PGOHUM00000237622 HGNC:6488 +HGNC:6490 LAMB3 laminin subunit beta 3 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "nicein-125kDa|kalinin-140kDa|BM600-125kDa" LAMNB1 "laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))|laminin, beta 3" "Laminin subunits|MicroRNA protein coding host genes" "626|1691" 1993-12-14 2015-11-23 2021-05-26 3914 ENSG00000196878 OTTHUMG00000036360 uc001hhh.4 D37766 NM_000228 CCDS1487 Q13751 "8088808|7774918" MGI:99915 RGD:1562668 150310 122974 HGNC:6490 "ENST00000356082.9|NM_000228.3" HGNC:6490 +HGNC:6491 LAMB4 laminin subunit beta 4 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 laminin, beta 4 Laminin subunits 626 1998-10-19 2015-11-23 2018-11-16 22798 ENSG00000091128 OTTHUMG00000154874 uc003vey.3 AF028816 NM_001318046 "CCDS83218|CCDS34732" A4D0S4 616380 470584 HGNC:6491 "ENST00000388781.8|NM_007356.3" +HGNC:6492 LAMC1 laminin subunit gamma 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 Laminin B2 chain LAMB2 laminin, gamma 1 (formerly LAMB2) Laminin subunits 626 2001-06-22 2015-11-23 2021-11-24 3915 ENSG00000135862 OTTHUMG00000035418 uc001gpy.4 J03202 NM_002293 CCDS1351 P11047 "3234037|9917858" MGI:99914 RGD:621052 150290 470586 HGNC:6492 "ENST00000258341.5|NM_002293.4" +HGNC:52645 LAMC1-AS1 LAMC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 lnc-LAMC2-1:1 Antisense RNAs 1987 2017-08-03 2018-07-26 110841583 ENSG00000224468 OTTHUMG00000046152 NR_149048 "26905585|28032728" HGNC:52645 +HGNC:6493 LAMC2 laminin subunit gamma 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "nicein-100kDa|kalinin-105kDa|BM600-100kDa" "EBR2|LAMB2T|LAMNB2|EBR2A" "laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))|laminin, gamma 2" Laminin subunits 626 1993-07-13 2015-11-23 2021-05-26 3918 ENSG00000058085 OTTHUMG00000035520 uc001gqa.3 Z15008 NM_005562 "CCDS1352|CCDS44285" Q13753 1383240 MGI:99913 RGD:621053 150292 122980 HGNC:6493 "ENST00000264144.5|NM_005562.3" HGNC:6493 +HGNC:6494 LAMC3 laminin subunit gamma 3 protein-coding gene gene with protein product Approved 9q34.12 09q34.12 DKFZp434E202 laminin, gamma 3 Laminin subunits 626 1999-07-23 2015-11-23 2021-05-26 10319 ENSG00000050555 OTTHUMG00000020819 uc004caa.2 AF041835 NM_006059 CCDS6938 Q9Y6N6 10225960 MGI:1344394 RGD:1309399 604349 280647 HGNC:6494 "ENST00000361069.9|NM_006059.4" HGNC:6494 +HGNC:6499 LAMP1 lysosomal associated membrane protein 1 protein-coding gene gene with protein product Approved 13q34 13q34 CD107a lysosomal-associated membrane protein 1 "CD molecules|Lysosome associated membrane proteins" "471|1910" 1990-07-15 2016-01-14 2016-01-14 3916 ENSG00000185896 OTTHUMG00000017380 uc001vtm.2 J03263 NM_005561 CCDS41909 P11279 MGI:96745 RGD:2989 153330 CD107a HGNC:6499 "ENST00000332556.5|NM_005561.4" +HGNC:6500 LAMP1P1 lysosomal associated membrane protein 1 pseudogene 1 pseudogene pseudogene Approved 12p13.3 12p13.3 LAMP1L1 "lysosomal-associated membrane protein 1-like 1|lysosomal-associated membrane protein 1 pseudogene 1" 1990-09-10 2010-10-15 2016-01-14 2016-01-14 100421198 NG_023963 PGOHUM00000239292 HGNC:6500 +HGNC:6501 LAMP2 lysosomal associated membrane protein 2 protein-coding gene gene with protein product Approved Xq24 Xq24 CD107b lysosomal-associated membrane protein 2 "CD molecules|Lysosome associated membrane proteins" "471|1910" 1990-08-03 2016-01-14 2021-05-26 3920 ENSG00000005893 OTTHUMG00000022301 uc004ess.5 X77196 NM_001122606 "CCDS48159|CCDS14600|CCDS14599" P13473 MGI:96748 RGD:2990 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LAMP2|LRG_749|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_749.xml" 309060 122989 CD107b HGNC:6501 "ENST00000200639.9|NM_002294.3" HGNC:6501 +HGNC:14582 LAMP3 lysosomal associated membrane protein 3 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "LAMP|TSC403|DC-LAMP|DCLAMP|CD208" lysosomal-associated membrane protein 3 "CD molecules|Lysosome associated membrane proteins" "471|1910" 2001-06-29 2016-01-14 2016-10-05 27074 ENSG00000078081 OTTHUMG00000158387 uc003flh.5 AB013924 NM_014398 CCDS3242 Q9UQV4 9721848 MGI:2441659 RGD:1307928 605883 CD208 HGNC:14582 "ENST00000265598.8|NM_014398.4" +HGNC:16097 LAMP5 lysosomal associated membrane protein family member 5 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "dJ1119D9.3|BAD-LAMP|UNC-46" brain and dendritic cell associated LAMP C20orf103 "chromosome 20 open reading frame 103|lysosomal-associated membrane protein family, member 5" Lysosome associated membrane proteins 1910 2001-07-17 2011-11-25 2015-11-17 2016-10-05 24141 ENSG00000125869 OTTHUMG00000031851 uc002wni.3 AL121740 NM_012261 "CCDS56177|CCDS13106" Q9UJQ1 "11780052|21642595" MGI:1923411 RGD:1306991 614641 HGNC:16097 "ENST00000246070.3|NM_012261.4" +HGNC:40754 LAMP5-AS1 LAMP5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 Antisense RNAs 1987 2014-02-01 2014-11-19 101929329 ENSG00000225988 OTTHUMG00000031850 NR_109957 24488769 LAMP5-AS1 HGNC:40754 +HGNC:26068 LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FLJ20625|p18|p27RF-Rho|Pdro|Ragulator1" "p27kip1 releasing factor from RhoA|protein associated with DRMs and endosomes" C11orf59 chromosome 11 open reading frame 59 Ragulator complex 1040 2006-03-09 2011-02-15 2011-02-15 2014-11-18 55004 ENSG00000149357 OTTHUMG00000167869 uc001ort.3 AK000632 NM_017907 CCDS8209 Q6IAA8 12358155 MGI:1913758 RGD:735078 613510 HGNC:26068 "ENST00000278671.10|NM_017907.3" +HGNC:29796 LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 protein-coding gene gene with protein product Approved 1q22 01q22 "MAPBPIP|MAPKSP1AP|p14|ENDAP|Ragulator2" "mitogen activated protein binding protein interacting protein|MAPKSP1 adaptor protein|endosomal adaptor protein" ROBLD3 roadblock domain containing 3 Ragulator complex 1040 2008-09-16 2011-02-15 2011-02-15 2021-04-13 28956 ENSG00000116586 OTTHUMG00000017462 uc001fnb.4 BC024190 NM_014017 "CCDS1128|CCDS44243" Q9Y2Q5 11042152 MGI:1932697 RGD:1562501 "MAPBPIPbase: Mutation registry for endosomal adaptor protein p14 deficiency|http://structure.bmc.lu.se/idbase/MAPBPIPbase/|LRG_81|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_81.xml" 610389 165856 HGNC:29796 "ENST00000368305.9|NM_014017.4" HGNC:29796 +HGNC:15606 LAMTOR3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 protein-coding gene gene with protein product Approved 4q23 04q23 "MP1|MAPBP|Ragulator3" MEK partner 1 "MAP2K1IP1|MAPKSP1" "mitogen-activated protein kinase kinase 1 interacting protein 1|MAPK scaffold protein 1" Ragulator complex 1040 2001-05-22 2011-02-15 2011-02-15 2016-10-05 8649 ENSG00000109270 OTTHUMG00000131050 uc003hvg.3 AF201947 NM_021970 "CCDS3652|CCDS58920" Q9UHA4 "9733512|15016825" MGI:1929467 RGD:1307133 603296 HGNC:15606 "ENST00000499666.7|NM_021970.4" +HGNC:39726 LAMTOR3P1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1 pseudogene pseudogene Approved 13q13.3 13q13.3 2011-03-24 2011-03-24 100130119 ENSG00000228825 OTTHUMG00000016745 NG_016963 PGOHUM00000248569 HGNC:39726 +HGNC:39727 LAMTOR3P2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 2 pseudogene pseudogene Approved 5q23.1 05q23.1 2011-03-24 2011-03-24 100874516 ENSG00000248979 OTTHUMG00000162950 NG_032353 PGOHUM00000251328 HGNC:39727 +HGNC:33772 LAMTOR4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 C7orf59 chromosome 7 open reading frame 59 Ragulator complex 1040 2008-06-13 2012-09-24 2012-09-24 2019-08-12 389541 ENSG00000188186 OTTHUMG00000154854 uc003utq.3 NM_001008395 "CCDS83211|CCDS83210|CCDS34702" Q0VGL1 "22980980|31314152" MGI:1913346 RGD:1309735 618834 HGNC:33772 "ENST00000341942.10|NM_001008395.4" +HGNC:17955 LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "XIP|MGC71071" "HBx-interacting protein|hepatitis B virus x-interacting protein (9.6kD)" HBXIP hepatitis B virus x interacting protein Ragulator complex 1040 2002-01-10 2012-09-24 2012-09-24 2016-10-05 10542 ENSG00000134248 OTTHUMG00000011568 uc057jdz.1 AF029890 NM_006402 CCDS824 O43504 "9499022|22980980" MGI:1915826 RGD:1305005 608521 HGNC:17955 "ENST00000602318.6|NM_001382293.1" +HGNC:40823 LAMTOR5-AS1 LAMTOR5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Antisense RNAs 1987 2012-09-24 2021-09-03 101410535 ENSG00000224699 OTTHUMG00000019824 uc057jep.1 "HY022359|BE547292|BG718030" NR_102697 LAMTOR5-AS1 HGNC:40823 +HGNC:31854 LAMTOR5P1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 pseudogene 1 pseudogene pseudogene Approved 1p31.3 01p31.3 HBXIPL hepatitis B virus x interacting protein-like HBXIPP1 hepatitis B virus x interacting protein pseudogene 1 2010-06-17 2012-09-24 2012-09-24 2014-11-18 106478910 ENSG00000236646 OTTHUMG00000008916 NG_044987 PGOHUM00000244738 HGNC:31854 +HGNC:6508 LANCL1 LanC like 1 protein-coding gene gene with protein product Approved 2q34 02q34 p40 GPR69A "LanC (bacterial lantibiotic synthetase component C)-like 1|LanC lantibiotic synthetase component C-like 1 (bacterial)" 1999-06-02 2016-01-06 2019-07-25 10314 ENSG00000115365 OTTHUMG00000132991 uc002ved.3 Y11395 NM_006055 CCDS2392 O43813 "9512664|22891245" MGI:1336997 RGD:69416 604155 HGNC:6508 "ENST00000450366.7|NM_006055.3" +HGNC:50727 LANCL1-AS1 LANCL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q34 02q34 LANCLOT LANCL1 opposite transcript Antisense RNAs 1987 2014-06-12 2014-06-12 102724820 ENSG00000234281 OTTHUMG00000154735 AA447268 NR_110604 LANCL1-AS1 HGNC:50727 +HGNC:6509 LANCL2 LanC like 2 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 TASP "testis-specific adriamycin sensitivity protein|G protein-coupled receptor 69B" GPR69B "LanC (bacterial lantibiotic synthetase component C)-like 2|LanC lantibiotic synthetase component C-like 2 (bacterial)" 1999-06-02 2016-01-06 2019-07-25 55915 ENSG00000132434 OTTHUMG00000023779 uc003tqp.3 AJ278245 NM_018697 CCDS5517 Q9NS86 "11762191|19667068" MGI:1919085 RGD:1310809 612919 objectId:3082 HGNC:6509 "ENST00000254770.3|NM_018697.4" +HGNC:24767 LANCL3 LanC like 3 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 FLJ42925 LanC lantibiotic synthetase component C-like 3 (bacterial) 2005-01-12 2016-01-06 2020-04-02 347404 ENSG00000147036 OTTHUMG00000033177 uc011mkd.3 AK124915 NM_198511 "CCDS55398|CCDS14240" Q6ZV70 MGI:2443335 RGD:1563642 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LANCL3 HGNC:24767 "ENST00000378619.4|NM_001170331.2" +HGNC:18449 LAP3 leucine aminopeptidase 3 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "LAPEP|LAP" PEPS peptidase S Aminopeptidases 104 2002-04-22 2003-09-12 2016-10-05 51056 ENSG00000002549 OTTHUMG00000048214 uc062vle.1 AF061738 NM_015907 CCDS3422 P28838 "6350155|689684" MGI:1914238 RGD:1307985 170250 M17.001 objectId:1569 3.4.11.1 HGNC:18449 "ENST00000226299.9|NM_015907.3" +HGNC:42364 LAP3P1 leucine aminopeptidase 3 pseudogene 1 pseudogene pseudogene Approved 6q14.1 06q14.1 2011-07-04 2017-03-01 100873864 ENSG00000220091 OTTHUMG00000015105 NG_032656 PGOHUM00000243268 HGNC:42364 +HGNC:42365 LAP3P2 leucine aminopeptidase 3 pseudogene 2 pseudogene pseudogene Approved 6p21.2 06p21.2 2011-07-04 2014-11-19 389386 ENSG00000213500 OTTHUMG00000014600 NG_009364 PGOHUM00000243608 HGNC:42365 +HGNC:6924 LAPTM4A lysosomal protein transmembrane 4 alpha protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "HUMORF13|KIAA0108|Mtrp|LAPTM4" MBNT lysosomal-associated protein transmembrane 4 alpha 2000-07-31 2008-08-11 2014-11-19 9741 ENSG00000068697 OTTHUMG00000090750 uc002rdm.3 D14696 NM_014713 CCDS1696 Q15012 "8621662|7788527" MGI:108017 RGD:735179 618837 HGNC:6924 "ENST00000175091.5|NM_014713.5" +HGNC:54382 LAPTM4A-DT LAPTM4A divergent transcript non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 Divergent transcripts 1990 2019-05-17 2019-05-17 105373463 ENSG00000223734 XR_001739316 HGNC:54382 +HGNC:13646 LAPTM4B lysosomal protein transmembrane 4 beta protein-coding gene gene with protein product Approved 8q22.1 08q22.1 LC27 2002-12-16 2008-08-11 2008-08-11 55353 ENSG00000104341 OTTHUMG00000164740 uc064ovl.1 AF317417 NM_018407 CCDS6275 Q86VI4 MGI:1890494 RGD:1311853 613296 HGNC:13646 "ENST00000521545.7|NM_018407.6" +HGNC:51934 LAPTM4BP1 lysosomal protein transmembrane 4 beta pseudogene 1 pseudogene pseudogene Approved 1q21.3 01q21.3 2015-10-07 2015-10-07 645900 ENSG00000237008 OTTHUMG00000013126 NG_022739 PGOHUM00000295899 HGNC:51934 +HGNC:51935 LAPTM4BP2 lysosomal protein transmembrane 4 beta pseudogene 2 pseudogene pseudogene Approved 3p13 03p13 2015-10-07 2020-04-06 107075219 ENSG00000271266 OTTHUMG00000184321 NG_046400 PGOHUM00000299469 HGNC:51935 +HGNC:29612 LAPTM5 lysosomal protein transmembrane 5 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 lysosomal multispanning membrane protein 5 MicroRNA protein coding host genes 1691 2004-12-03 2009-07-20 2016-10-05 7805 ENSG00000162511 OTTHUMG00000003707 uc001bsc.3 U51240 NM_006762 CCDS337 Q13571 "8661146|12527926" MGI:108046 RGD:621838 601476 HGNC:29612 "ENST00000294507.4|NM_006762.3" +HGNC:40336 LARGE-AS1 LARGE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Antisense RNAs 1987 2013-05-17 2014-11-19 100506195 ENSG00000224973 OTTHUMG00000150916 NR_038949 LARGE-AS1 HGNC:40336 +HGNC:41357 LARGE-IT1 LARGE intronic transcript 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 LARGE intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-09-22 2015-02-25 2015-02-25 100874331 ENSG00000232081 OTTHUMG00000150915 uc062dpd.1 LARGE-IT1 +HGNC:6511 LARGE1 LARGE xylosyl- and glucuronyltransferase 1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 KIAA0609 like-acetylglucosaminyltransferase LARGE like-glycosyltransferase "Glycosyltransferase family 8|MicroRNA protein coding host genes" "436|1691" 1999-06-02 2016-05-31 2016-05-31 2021-05-26 9215 ENSG00000133424 OTTHUMG00000150914 uc003and.5 AJ007583 NM_133642 CCDS13912 O95461 "9892679|12966029|22223806" MGI:1342270 RGD:1308895 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LARGE|LRG_856|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_856.xml" 603590 122992 HGNC:6511 "ENST00000397394.8|NM_133642.5" HGNC:6511 +HGNC:55162 LARGE1-AS1 LARGE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Antisense RNAs 1987 2020-07-17 2020-07-17 107985565 ENSG00000273082 XR_001755630 +HGNC:16522 LARGE2 LARGE xylosyl- and glucuronyltransferase 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "PP5656|FLJ35207" GYLTL1B glycosyltransferase-like 1B Glycosyltransferase family 8 436 2005-09-09 2016-05-31 2016-05-31 2016-10-05 120071 ENSG00000165905 OTTHUMG00000167037 uc001nbv.1 NM_152312 "CCDS31473|CCDS76399" Q8N3Y3 "15661757|15958417" MGI:2443769 RGD:735214 609709 HGNC:16522 "ENST00000401752.6|NM_001300721.2" +HGNC:29531 LARP1 La ribonucleoprotein 1, translational regulator protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "LARP|KIAA0731|MGC19556|Lar1|Lhp1" "La ribonucleoprotein domain family, member 1|La ribonucleoprotein domain family member 1" "La ribonucleoproteins|MicroRNA protein coding host genes" "625|1691" 2005-06-16 2019-08-28 2020-01-06 23367 ENSG00000155506 OTTHUMG00000130191 uc003lvo.4 AB018274 NM_033551 CCDS4328 Q6PKG0 "29244122|9872452|10878606|24532714" MGI:1890165 RGD:1306683 612059 HGNC:29531 "ENST00000518297.6|NM_033551.3" +HGNC:24704 LARP1B La ribonucleoprotein 1B protein-coding gene gene with protein product Approved 4q28.2 04q28.2 "FLJ10378|DKFZp434K245|DKFZp686E0316" LARP2 "La ribonucleoprotein domain family, member 2|La ribonucleoprotein domain family, member 1B|La ribonucleoprotein domain family member 1B" La ribonucleoproteins 625 2005-06-16 2009-06-09 2019-08-28 2019-08-28 55132 ENSG00000138709 OTTHUMG00000133343 uc003iga.5 NM_018078 "CCDS47133|CCDS64057|CCDS3738" Q659C4 12045101 MGI:1914604 RGD:1307509 HGNC:24704 "ENST00000326639.11|NM_018078.4" +HGNC:37097 LARP1BP1 LARP1B pseudogene 1 pseudogene pseudogene Approved 4q13.1 04q13.1 "La ribonucleoprotein domain family, member 1B pseudogene 1|La ribonucleoprotein domain family member 1B pseudogene 1" 2012-06-14 2019-08-28 2019-08-28 644578 ENSG00000231442 OTTHUMG00000160671 NG_028891 PGOHUM00000250769 HGNC:37097 +HGNC:44084 LARP1BP2 LARP1B pseudogene 2 pseudogene pseudogene Approved 7q22.3 07q22.3 "La ribonucleoprotein domain family, member 1B pseudogene 2|La ribonucleoprotein domain family member 1B pseudogene 2" 2012-06-14 2019-08-28 2019-08-28 106479034 ENSG00000243438 OTTHUMG00000157589 NG_045004 PGOHUM00000233519 HGNC:44084 +HGNC:44085 LARP1BP3 LARP1B pseudogene 3 pseudogene pseudogene Approved Xq26.2 Xq26.2 "La ribonucleoprotein domain family, member 1B pseudogene 3|La ribonucleoprotein domain family member 1B pseudogene 3" 2012-06-14 2019-08-28 2019-08-28 644403 ENSG00000232664 OTTHUMG00000022450 NG_022704 PGOHUM00000250088 HGNC:44085 +HGNC:23183 LARP1P1 LARP1 pseudogene 1 pseudogene pseudogene Approved 6p22.2 06p22.2 dJ221C16.7 HCG10P "HLA complex group 10 pseudogene|La ribonucleoprotein domain family, member 1 pseudogene 1|La ribonucleoprotein domain family member 1 pseudogene 1" 2004-11-25 2012-06-14 2019-08-28 2020-04-20 100379623 ENSG00000217159 OTTHUMG00000014424 NG_029346 PGOHUM00000243519 HGNC:23183 +HGNC:24320 LARP4 La ribonucleoprotein 4 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 PP13296 La-related protein 4 "La ribonucleoprotein domain family, member 4|La ribonucleoprotein domain family member 4" La ribonucleoproteins 625 2005-06-16 2019-08-28 2019-08-28 113251 ENSG00000161813 OTTHUMG00000163724 uc001rwp.3 AY004310 NM_052879 "CCDS86300|CCDS81690|CCDS53790|CCDS53789|CCDS44879|CCDS44880|CCDS41782" Q71RC2 "21098120|28895529|28782243" MGI:2443114 RGD:6499275 618657 HGNC:24320 "ENST00000398473.7|NM_052879.5" +HGNC:28987 LARP4B La ribonucleoprotein 4B protein-coding gene gene with protein product Approved 10p15.3 10p15.3 "KIAA0217|LARP5" "KIAA0217|La ribonucleoprotein domain family, member 5|La ribonucleoprotein domain family, member 4B|La ribonucleoprotein domain family member 4B" La ribonucleoproteins 625 2004-04-06 2009-06-09 2019-08-28 2019-08-28 23185 ENSG00000107929 OTTHUMG00000017534 uc031ptb.1 D86971 NM_015155 CCDS31131 Q92615 "9039502|20573744" MGI:106330 RGD:1310713 616513 HGNC:28987 "ENST00000316157.8|NM_015155.3" +HGNC:55786 LARP4B-DT LARP4B divergent transcript non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 Divergent transcripts 1990 2021-07-28 2021-07-28 101927762 ENSG00000229869 NR_120629 +HGNC:21438 LARP4P LARP4 pseudogene pseudogene pseudogene Approved 15q14 15q14 "La ribonucleoprotein domain family, member 4 pseudogene|La ribonucleoprotein domain family member 4 pseudogene" 2005-06-16 2019-08-28 2019-08-28 554354 ENSG00000261315 OTTHUMG00000172661 NG_034055 PGOHUM00000293216 HGNC:21438 +HGNC:24012 LARP6 La ribonucleoprotein 6, translational regulator protein-coding gene gene with protein product Approved 15q23 15q23 "acheron|FLJ11196" "La ribonucleoprotein domain family, member 6|La ribonucleoprotein domain family member 6" La ribonucleoproteins 625 2005-06-16 2019-08-28 2022-01-10 55323 ENSG00000166173 OTTHUMG00000172179 uc002ass.5 BC009446 NM_018357 "CCDS32281|CCDS10236" Q9BRS8 "23918805|23755290" MGI:1914807 RGD:1308414 611300 HGNC:24012 "ENST00000299213.10|NM_018357.4" +HGNC:24912 LARP7 La ribonucleoprotein 7, transcriptional regulator protein-coding gene gene with protein product Approved 4q25 04q25 "HDCMA18P|PIP7S|DKFZP564K112" P-TEFb-interaction protein for 7SK stability "La ribonucleoprotein domain family, member 7|La ribonucleoprotein domain family member 7" "La ribonucleoproteins|RNA binding motif containing|7SK snRNP complex" "625|725|1676" 2006-07-05 2019-08-28 2021-05-26 51574 ENSG00000174720 OTTHUMG00000132909 uc003iay.5 AF068284 NM_016648 CCDS3701 Q4G0J3 "18191186|18249148|18281698|22865833|22488152" MGI:107634 RGD:1592474 612026 320199 HGNC:24912 "ENST00000344442.10|NM_016648.4" HGNC:24912 +HGNC:49763 LARP7P1 LARP7 pseudogene 1 pseudogene pseudogene Approved 1q32.1 01q32.1 "La ribonucleoprotein domain family, member 7 pseudogene 1|La ribonucleoprotein domain family member 7 pseudogene 1" 2014-02-14 2019-08-28 2019-08-28 106480287 ENSG00000271588 OTTHUMG00000184464 NG_044157 PGOHUM00000244394 HGNC:49763 +HGNC:49764 LARP7P2 LARP7 pseudogene 2 pseudogene pseudogene Approved 16p12.3 16p12.3 "La ribonucleoprotein domain family, member 7 pseudogene 2|La ribonucleoprotein domain family member 7 pseudogene 2" 2014-02-14 2019-08-28 2019-08-28 106481699 ENSG00000261939 OTTHUMG00000177625 NG_043198 PGOHUM00000248749 HGNC:49764 +HGNC:49765 LARP7P3 LARP7 pseudogene 3 pseudogene pseudogene Approved 18q22.2 18q22.2 "La ribonucleoprotein domain family, member 7 pseudogene 3|La ribonucleoprotein domain family member 7 pseudogene 3" 2014-02-14 2019-08-28 2019-08-28 106481700 ENSG00000265698 OTTHUMG00000178697 NG_043207 PGOHUM00000235095 HGNC:49765 +HGNC:49766 LARP7P4 LARP7 pseudogene 4 pseudogene pseudogene Approved 3q24 03q24 "La ribonucleoprotein domain family, member 7 pseudogene 4|La ribonucleoprotein domain family member 7 pseudogene 4" 2014-02-14 2019-08-28 2019-08-28 100421509 ENSG00000244024 OTTHUMG00000159390 NG_025752 PGOHUM00000250309 HGNC:49766 +HGNC:6512 LARS1 leucyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5q32 05q32 "HSPC192|FLJ10595|FLJ21788|LEUS|RNTLS" leucine tRNA ligase 1, cytoplasmic LARS leucyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 2001-06-22 2019-07-15 2019-07-15 2021-05-26 51520 ENSG00000133706 OTTHUMG00000163429 uc003lnx.2 AF151026 NM_020117 "CCDS34265|CCDS83029" Q9P2J5 6933703 MGI:1913808 RGD:1304962 151350 376888 6.1.1.4 HGNC:6512 "ENST00000394434.7|NM_020117.11" HGNC:6512 +HGNC:17095 LARS2 leucyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "KIAA0028|LEURS|MGC26121|mtLeuRS" leucine tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 2003-09-01 2016-03-14 2021-05-26 23395 ENSG00000011376 OTTHUMG00000133177 uc062ixh.1 AJ312685 NM_015340 CCDS2728 Q15031 "20194621|15123417|10684970" MGI:2142973 RGD:1308429 LRG_1353|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1353.xml 604544 331972 6.1.1.4 HGNC:17095 "ENST00000645846.2|NM_015340.4" HGNC:17095 +HGNC:40796 LARS2-AS1 LARS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 LARS2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100885795 ENSG00000232455 OTTHUMG00000156654 uc031rzd.2 NR_048543 LARS2-AS1 HGNC:40796 +HGNC:25726 LAS1L LAS1 like ribosome biogenesis factor protein-coding gene gene with protein product Approved Xq12 Xq12 "FLJ12525|Las1" LAS1-like (S. cerevisiae) Large ribosomal subunit biogenesis complex 1301 2005-01-26 2019-08-23 2020-04-02 81887 ENSG00000001497 OTTHUMG00000021720 uc004dwa.3 BC014545 NM_031206 "CCDS55433|CCDS55434|CCDS14381" Q9Y4W2 22190735 MGI:1923380 RGD:1565755 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LAS1L 300964 406910 HGNC:25726 "ENST00000374811.8|NM_031206.7" HGNC:25726 +HGNC:6513 LASP1 LIM and SH3 protein 1 protein-coding gene gene with protein product Approved 17q12 17q12 "MLN50|Lasp-1" "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 1997-05-22 2016-10-05 3927 ENSG00000002834 OTTHUMG00000133182 uc002hra.3 NM_006148 "CCDS62164|CCDS11331" Q14847 "7490069|25622104" MGI:109656 RGD:68408 LASP1 602920 HGNC:6513 "ENST00000318008.11|NM_006148.4" +HGNC:54143 LASTR lncRNA associated with SART3 regulation of splicing non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 LINC02657 long intergenic non-protein coding RNA 2657 Long non-coding RNAs with non-systematic symbols 1992 2018-12-07 2020-01-22 2020-01-22 2020-01-22 105376382 ENSG00000242147 NR_134491 31956895 618938 HGNC:54143 +HGNC:18874 LAT linker for activation of T cells protein-coding gene gene with protein product Approved 16q13 16q13 LAT1 linker for activation of T cells, transmembrane adaptor 2002-07-12 2017-12-06 2017-12-06 27040 ENSG00000213658 OTTHUMG00000131761 uc002dsd.4 AF036905 NM_001014987 "CCDS10647|CCDS32425|CCDS45455|CCDS53999" O43561 9489702 MGI:1342293 RGD:620802 602354 HGNC:18874 "ENST00000395456.7|NM_001014987.2" +HGNC:12749 LAT2 linker for activation of T cells family member 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WSCR5|HSPC046|LAB|NTAL" "linker for activation of B cells|non-T cell activation linker|linker for activation of T cells, transmembrane adaptor 2" "WBSCR15|WBSCR5" "Williams-Beuren syndrome chromosome region 5|linker for activation of T cells family, member 2|linker for activation of T-cells family member 2" 1997-09-12 2005-04-26 2017-12-06 2017-12-06 7462 ENSG00000086730 OTTHUMG00000130151 uc003uai.4 AF257135 NM_014146 CCDS5566 Q9GZY6 "8812460|12514734" MGI:1926479 RGD:631397 605719 HGNC:12749 "ENST00000460943.6|NM_032464.3" +HGNC:6514 LATS1 large tumor suppressor kinase 1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 WARTS "LATS (large tumor suppressor, Drosophila) homolog 1|LATS, large tumor suppressor, homolog 1 (Drosophila)" AGC family kinases 1625 1999-02-18 2013-04-25 2014-11-19 9113 ENSG00000131023 OTTHUMG00000016437 uc003qmu.2 AF104413 NM_004690 "CCDS34551|CCDS59040" O95835 "9988268|15122335" MGI:1333883 RGD:1564085 LATS1 603473 470588 objectId:1515 HGNC:6514 "ENST00000543571.6|NM_004690.4" +HGNC:6515 LATS2 large tumor suppressor kinase 2 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "LATS (large tumor suppressor, Drosophila) homolog 2|LATS, large tumor suppressor, homolog 2 (Drosophila)" AGC family kinases 1625 1999-12-07 2013-04-25 2015-09-03 26524 ENSG00000150457 OTTHUMG00000016531 uc001unr.6 AB028019 NM_014572 CCDS9294 Q9NRM7 10673337 MGI:1354386 RGD:1305906 LATS2 604861 objectId:1516 HGNC:6515 "ENST00000382592.5|NM_014572.3" +HGNC:39912 LATS2-AS1 LATS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 LATS2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874066 ENSG00000233851 OTTHUMG00000016527 uc058vus.1 LATS2-AS1 +HGNC:26005 LAX1 lymphocyte transmembrane adaptor 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "LAX|FLJ20340" "LAT-like membrane associated protein|linker for activation of x cells" 2005-04-25 2014-11-19 54900 ENSG00000122188 OTTHUMG00000035908 uc001haa.4 AK000347 NM_017773 "CCDS44297|CCDS1441" Q8IWV1 12359715 MGI:2443362 RGD:1563522 619622 HGNC:26005 "ENST00000442561.7|NM_017773.4" +HGNC:29471 LAYN layilin protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "FLJ30977|FLJ31092" C-type lectin domain containing 1298 2005-11-14 2014-11-19 143903 ENSG00000204381 OTTHUMG00000166721 uc001plp.3 NM_178834 "CCDS58179|CCDS58178|CCDS31676" Q6UX15 15913605 MGI:2685357 RGD:1564444 618843 HGNC:29471 "ENST00000375614.7|NM_178834.5" +HGNC:29532 LBH LBH regulator of WNT signaling pathway protein-coding gene gene with protein product Approved 2p23.1 02p23.1 "limb bud and heart development homolog (mouse)|limb bud and heart development" 2006-10-13 2019-04-11 2019-04-11 81606 ENSG00000213626 OTTHUMG00000152051 uc002rne.3 AF110224 NM_030915 CCDS33173 Q53QV2 "11230166|11336496" MGI:1925139 RGD:1584525 611763 HGNC:29532 "ENST00000395323.9|NM_030915.4" +HGNC:28351 LBHD1 LBH domain containing 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 MGC2477 C11orf48 chromosome 11 open reading frame 48 2005-12-22 2014-10-09 2014-10-09 2015-03-03 79081 ENSG00000162194 OTTHUMG00000187541 BC001434 NM_024099 CCDS8028 Q9BQE6 12477932 MGI:5516029 HGNC:28351 "ENST00000354588.8|NM_024099.5" +HGNC:52384 LBHD2 LBH domain containing 2 protein-coding gene gene with protein product Approved 14q32.32 14q32.32 2017-10-17 2017-10-17 107984640 ENSG00000283071 OTTHUMG00000191553 NM_001330236 CCDS81855 A0A0U1RRK4 MGI:2685744 RGD:1560608 HGNC:52384 "ENST00000634353.1|NM_001330236.2" +HGNC:6517 LBP lipopolysaccharide binding protein protein-coding gene gene with protein product Approved 20q11.23 20q11.23 BPIFD2 BPI fold containing family D, member 2 lipopolysaccharide-binding protein BPI fold containing 456 1992-03-13 2001-11-28 2014-11-18 3929 ENSG00000129988 OTTHUMG00000032447 uc002xic.3 NM_004139 CCDS13304 P18428 8432532 MGI:1098776 RGD:61865 151990 HGNC:6517 "ENST00000217407.3|NM_004139.5" +HGNC:6518 LBR lamin B receptor protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "DHCR14B|TDRD18" tudor domain containing 18 Tudor domain containing 780 1995-04-27 2016-10-05 3930 ENSG00000143815 OTTHUMG00000037520 uc001hoz.4 L25931 NM_002296 CCDS1545 Q14739 "8157663|9878250" MGI:2138281 RGD:620813 600024 123003 HGNC:6518 "ENST00000272163.9|NM_002296.4" HGNC:6518 +HGNC:16960 LBX1 ladybird homeobox 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "LBX1H|HPX6" ladybird homeobox homolog 1 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2005-04-28 2007-02-15 2014-11-18 10660 ENSG00000138136 OTTHUMG00000018927 uc001ksx.4 X90828 NM_006562 CCDS31270 P52954 8645601 MGI:104867 RGD:1564197 604255 8452 HGNC:16960 "ENST00000370193.4|NM_006562.5" +HGNC:48678 LBX1-AS1 LBX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.32 10q24.32 FLJ41350 LBX1 antisense RNA 1 (head to head) Antisense RNAs 1987 2013-06-06 2018-03-23 2018-03-23 399806 ENSG00000227128 OTTHUMG00000170500 "AK096698|AK123344|AK294034" NR_029380 LBX1-AS1 HGNC:48678 +HGNC:15525 LBX2 ladybird homeobox 2 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 ladybird homeobox homolog 2 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2001-06-26 2007-02-15 2015-08-25 85474 ENSG00000179528 OTTHUMG00000170595 uc061kxh.1 AC005041 NM_001009812 "CCDS62938|CCDS33228" Q6XYB7 11386758 MGI:1342288 RGD:1561172 607164 8412 HGNC:15525 "ENST00000377566.9|NM_001282430.2" +HGNC:25136 LBX2-AS1 LBX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p13.1 02p13.1 LBX2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2014-06-09 151534 ENSG00000257702 OTTHUMG00000170509 uc061kxm.1 "AK125271|AK096725" NR_024606 24905231 LBX2-AS1 HGNC:25136 +HGNC:31923 LCA5 lebercilin LCA5 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 C6orf152 "chromosome 6 open reading frame 152|Leber congenital amaurosis 5" 2005-02-23 2019-01-21 2020-04-20 167691 ENSG00000135338 OTTHUMG00000015080 uc003piy.3 NM_181714 CCDS4990 Q86VQ0 "10631161|17546029" MGI:1923032 RGD:1308555 611408 140526 HGNC:31923 "ENST00000369846.9|NM_001122769.3" HGNC:31923 +HGNC:1255 LCA5L lebercilin LCA5 like protein-coding gene gene with protein product Approved 21q22.2 21q22.2 MGC33295 C21orf13 "chromosome 21 open reading frame 13|Leber congenital amaurosis 5-like" 2000-05-23 2007-12-18 2019-01-21 2020-09-17 150082 ENSG00000157578 OTTHUMG00000066280 uc062afa.1 AF121781 NM_152505 CCDS13665 O95447 MGI:3041157 RGD:1562512 HGNC:1255 "ENST00000288350.8|NM_152505.4" +HGNC:25837 LCAL1 lung cancer associated lncRNA 1 non-coding RNA RNA, long non-coding Approved 6q14.1 06q14.1 onco-lncRNA-27 Long non-coding RNAs with non-systematic symbols 1992 2015-07-29 2015-07-29 80078 ENSG00000286042 NR_130915 "25116943|25864709" HGNC:25837 +HGNC:6522 LCAT lecithin-cholesterol acyltransferase protein-coding gene gene with protein product Approved 16q22.1 16q22.1 phosphatidylcholine--sterol O-acyltransferase 2001-06-22 2021-05-26 3931 ENSG00000213398 OTTHUMG00000137551 uc002euy.2 NM_000229 CCDS10854 P04180 MGI:96755 RGD:2993 606967 123006 2.3.1.43 HGNC:6522 "ENST00000264005.10|NM_000229.2" HGNC:6522 +HGNC:44308 LCDR lysosome cell death regulator non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 LINC00653 long intergenic non-protein coding RNA 653 Long non-coding RNAs with non-systematic symbols 1992 2018-11-28 2022-02-25 2022-02-25 2022-03-03 100270804 ENSG00000273148 OTTHUMG00000186033 NR_026885 35091468 HGNC:44308 +HGNC:29459 LCE1A late cornified envelope 1A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP1 Late cornified envelope proteins 627 2004-10-11 2015-09-03 353131 ENSG00000186844 OTTHUMG00000012447 uc010pdw.3 NM_178348 CCDS1028 Q5T7P2 11698679 MGI:1915078 612603 HGNC:29459 "ENST00000335123.4|NM_178348.2" +HGNC:16611 LCE1B late cornified envelope 1B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP2 SPRL2A small proline rich-like (epidermal differentiation complex) 2A Late cornified envelope proteins 627 2001-10-26 2004-10-15 2004-10-11 2015-09-03 353132 ENSG00000196734 OTTHUMG00000014402 uc001faq.3 BI670515 NM_178349 CCDS1027 Q5T7P3 11698679 MGI:1915078 612604 HGNC:16611 "ENST00000360090.4|NM_178349.2" +HGNC:29464 LCE1C late cornified envelope 1C protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP3 Late cornified envelope proteins 627 2004-10-11 2015-09-03 353133 ENSG00000197084 OTTHUMG00000012445 uc031uzj.2 NM_178351 CCDS1026 Q5T751 11698679 MGI:1915078 612605 HGNC:29464 "ENST00000607093.2|NM_178351.4" +HGNC:29465 LCE1D late cornified envelope 1D protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP4 Late cornified envelope proteins 627 2004-10-11 2015-09-03 353134 ENSG00000172155 OTTHUMG00000012444 uc009wnp.3 NM_178352 CCDS1025 Q5T752 11698679 MGI:1915078 RGD:1587794 612606 HGNC:29465 "ENST00000326233.7|NM_178352.3" +HGNC:29466 LCE1E late cornified envelope 1E protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP5 Late cornified envelope proteins 627 2004-10-11 2015-09-03 353135 ENSG00000186226 OTTHUMG00000012405 uc001fan.4 BC038391 NM_178353 CCDS1024 Q5T753 11698679 MGI:1915078 612607 HGNC:29466 "ENST00000368770.4|NM_178353.2" +HGNC:29467 LCE1F late cornified envelope 1F protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP6 Late cornified envelope proteins 627 2004-10-11 2015-09-03 353137 ENSG00000240386 OTTHUMG00000012403 uc010pdv.3 NM_178354 CCDS1023 Q5T754 11698679 RGD:1565626 612608 HGNC:29467 "ENST00000334371.4|NM_178354.3" +HGNC:29469 LCE2A late cornified envelope 2A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP9 Late cornified envelope proteins 627 2004-10-11 2014-11-18 353139 ENSG00000187173 OTTHUMG00000012392 uc001faj.3 NM_178428 CCDS1021 Q5TA79 11698679 "MGI:1913445|MGI:1915944" 612609 HGNC:29469 "ENST00000368779.2|NM_178428.4" +HGNC:16610 LCE2B late cornified envelope 2B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "LEP10|XP5" SPRL1B small proline rich-like (epidermal differentiation complex) 1B Late cornified envelope proteins 627 2001-10-26 2004-10-15 2004-10-11 2016-10-05 26239 ENSG00000159455 OTTHUMG00000012404 uc001fai.4 BI670514 NM_014357 CCDS1020 O14633 "11698679|9344646" "MGI:1913445|MGI:1915944" 612610 HGNC:16610 "ENST00000368780.4|NM_014357.5" +HGNC:29460 LCE2C late cornified envelope 2C protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP11 Late cornified envelope proteins 627 2004-10-11 2014-11-19 353140 ENSG00000187180 OTTHUMG00000012389 uc001fah.5 NM_178429 CCDS1019 Q5TA81 11698679 "MGI:1913445|MGI:1915078|MGI:1915944" 612611 HGNC:29460 "ENST00000368783.2|NM_178429.5" +HGNC:16518 LCE2D late cornified envelope 2D protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP12 SPRL1A small proline rich-like (epidermal differentiation complex) 1A Late cornified envelope proteins 627 2001-10-26 2004-10-15 2004-10-11 2014-11-18 353141 ENSG00000187223 OTTHUMG00000014400 uc001fag.5 BI670513 NM_178430 CCDS1018 Q5TA82 11698679 "MGI:1913445|MGI:1915078|MGI:1915944" 612612 HGNC:16518 "ENST00000368784.2|NM_178430.4" +HGNC:29461 LCE3A late cornified envelope 3A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP13 Late cornified envelope proteins 627 2004-10-11 2015-09-03 353142 ENSG00000185962 OTTHUMG00000012397 uc010pdt.2 NM_178431 CCDS1017 Q5TA76 11698679 612613 HGNC:29461 "ENST00000335674.1|NM_178431.1" +HGNC:29462 LCE3B late cornified envelope 3B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP14 Late cornified envelope proteins 627 2004-10-11 2015-09-03 353143 ENSG00000187238 OTTHUMG00000012395 uc010pds.2 NM_178433 CCDS1016 Q5TA77 11698679 "MGI:1913594|MGI:1916764|MGI:1916770|MGI:2135932|MGI:3642919|MGI:3645650" RGD:2319129 612614 HGNC:29462 "ENST00000335633.1|NM_178433.1" +HGNC:16612 LCE3C late cornified envelope 3C protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP15 SPRL3A small proline rich-like (epidermal differentiation complex) 3A Late cornified envelope proteins 627 2001-10-26 2004-10-15 2015-09-03 353144 ENSG00000244057 OTTHUMG00000014403 uc001fac.2 BI670516 NM_178434 CCDS1015 Q5T5A8 11698679 "MGI:1913594|MGI:1916764|MGI:1916770|MGI:2135932|MGI:3642919|MGI:3645650" 612615 HGNC:16612 "ENST00000684028.1|NM_178434.3" +HGNC:16615 LCE3D late cornified envelope 3D protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP16 "SPRL6B|SPRL6A" small proline rich-like (epidermal differentiation complex) 6B Late cornified envelope proteins 627 2001-10-26 2004-10-15 2004-05-21 2016-10-05 84648 ENSG00000163202 OTTHUMG00000012384 uc001fab.4 BI670519 NM_032563 CCDS1014 Q9BYE3 11698679 "MGI:1913594|MGI:1916764|MGI:1916770|MGI:2135932|MGI:3642919|MGI:3645650" 612616 HGNC:16615 "ENST00000368787.4|NM_032563.2" +HGNC:29463 LCE3E late cornified envelope 3E protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP17 Late cornified envelope proteins 627 2004-10-11 2015-09-03 353145 ENSG00000185966 OTTHUMG00000012393 uc001faa.5 NM_178435 CCDS1013 Q5T5B0 11698679 "MGI:1913594|MGI:1916764|MGI:1916770|MGI:2135932|MGI:3642919|MGI:3645650" 612617 HGNC:29463 "ENST00000368789.2|NM_178435.4" +HGNC:16613 LCE4A late cornified envelope 4A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP8 SPRL4A small proline rich-like (epidermal differentiation complex) 4A Late cornified envelope proteins 627 2001-10-26 2004-10-15 2004-10-11 2016-10-05 199834 ENSG00000187170 OTTHUMG00000014394 uc057lag.1 BI670517 NM_178356 CCDS1022 Q5TA78 11698679 612618 HGNC:16613 "ENST00000368777.2|NM_001387222.1" +HGNC:16614 LCE5A late cornified envelope 5A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP18 SPRL5A small proline rich-like (epidermal differentiation complex) 5A Late cornified envelope proteins 627 2001-10-26 2004-10-15 2004-10-11 2014-11-19 254910 ENSG00000186207 OTTHUMG00000014401 uc001ezy.3 BI670518 NM_178438 CCDS1011 Q5TCM9 11698679 "MGI:1913445|MGI:1915078|MGI:1915944" RGD:7624666 612619 HGNC:16614 "ENST00000334269.3|NM_178438.5" +HGNC:31824 LCE6A late cornified envelope 6A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 C1orf44 chromosome 1 open reading frame 44 Late cornified envelope proteins 627 2004-09-16 2006-09-18 2006-09-18 2015-09-03 448835 ENSG00000235942 OTTHUMG00000012448 uc001fas.5 DQ991251 NM_001128600 CCDS44227 A0A183 MGI:1925632 RGD:2319721 HGNC:31824 "ENST00000431011.3|NM_001128600.2" +HGNC:55921 LCE7A late cornified envelope 7A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 2021-10-15 2021-10-15 122526777 ENSG00000285946 NM_001395990 P0DV60 34112911 +HGNC:31806 LCEP1 late cornified envelope pseudogene 1 pseudogene pseudogene Approved 1q21.3 01q21.3 2004-10-11 2018-05-02 450208 ENSG00000233819 OTTHUMG00000012400 NG_006116 15854049 HGNC:31806 +HGNC:31807 LCEP2 late cornified envelope pseudogene 2 pseudogene pseudogene Approved 1q21.3 01q21.3 2004-10-11 2018-05-02 450209 ENSG00000229713 OTTHUMG00000012399 NG_006117 15854049 HGNC:31807 +HGNC:31809 LCEP3 late cornified envelope pseudogene 3 pseudogene pseudogene Approved 1q21.3 01q21.3 2004-10-11 2020-01-22 450211 ENSG00000285753 NG_006119 15854049 HGNC:31809 +HGNC:31808 LCEP4 late cornified envelope pseudogene 4 pseudogene pseudogene Approved 1q21.3 01q21.3 2004-10-11 2018-05-02 450210 ENSG00000226947 OTTHUMG00000012398 NG_006118 15854049 HGNC:31808 +HGNC:6524 LCK LCK proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 1p35.2 01p35.2 lymphocyte-specific protein tyrosine kinase "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1986-01-01 2014-06-25 2021-04-13 3932 ENSG00000182866 OTTHUMG00000007463 uc001bux.3 M36881 NM_005356 CCDS359 P06239 2787474 MGI:96756 RGD:2994 LRG_153|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_153.xml LCK 153390 280151 objectId:2053 2.7.10.1 HGNC:6524 "ENST00000336890.10|NM_005356.5" HGNC:6524 +HGNC:26756 LCLAT1 lysocardiolipin acyltransferase 1 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 "FLJ37965|ALCAT1|AGPAT8" LYCAT lysocardiolipin acyltransferase 1-acylglycerol-3-phosphate O-acyltransferases 46 2004-10-28 2008-12-15 2008-12-15 2014-11-19 253558 ENSG00000172954 OTTHUMG00000099349 uc002rnl.4 AK095284 NM_182551 "CCDS42670|CCDS1772" Q6UWP7 "18931347|15152008|16620771|17675553" MGI:2684937 RGD:1565906 614241 HGNC:26756 "ENST00000379509.8|NM_001002257.3" +HGNC:17557 LCMT1 leucine carboxyl methyltransferase 1 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "CGI-68|PPMT1" "protein phosphatase methyltransferase 1|[phosphatase 2A protein]-leucine-carboxy methyltransferase" "Protein phosphatase 2 modulatory subunits|7BS protein methyltransferases" "1265|2058" 2003-01-29 2015-12-04 51451 ENSG00000205629 OTTHUMG00000177182 uc002dnx.2 AF037601 NM_016309 "CCDS45445|CCDS45446" Q9UIC8 10810093 MGI:1353593 RGD:735118 610286 2.1.1.233 HGNC:17557 "ENST00000399069.8|NM_016309.3" +HGNC:51177 LCMT1-AS1 LCMT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 Antisense RNAs 1987 2014-08-01 2014-08-01 102723510 ENSG00000260448 OTTHUMG00000177185 NR_120306 LCMT1-AS1 HGNC:51177 +HGNC:51178 LCMT1-AS2 LCMT1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 Antisense RNAs 1987 2014-08-01 2014-08-01 100506655 ENSG00000260034 OTTHUMG00000177183 NR_039998 LCMT1-AS2 HGNC:51178 +HGNC:17558 LCMT2 leucine carboxyl methyltransferase 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "KIAA0547|MGC9534|TYW4|PPM2" tRNA-yW synthesizing protein 4 7BS DNA/RNA methyltransferases 2059 2003-01-29 2014-11-19 9836 ENSG00000168806 OTTHUMG00000130705 uc001zrg.4 AF265443 NM_014793 CCDS10094 O60294 "9628581|17150819" MGI:1353659 RGD:1305829 611246 HGNC:17558 "ENST00000305641.7|NM_014793.5" +HGNC:6525 LCN1 lipocalin 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "VEGP|TP|PMFA|MGC71975|TLC" "Von Ebner gland protein|tear lipocalin|lipocalin 1-like 2|tear prealbumin" "lipocalin 1 (protein migrating faster than albumin, tear prealbumin)|lipocalin 1 (tear prealbumin)" Lipocalins 631 1993-05-03 2011-11-01 2016-10-05 3933 ENSG00000160349 OTTHUMG00000020908 uc004cfz.3 NM_002297 CCDS6991 P31025 8276406 MGI:102669 RGD:619872 151675 HGNC:6525 "ENST00000371781.4|NM_002297.4" +HGNC:23412 LCN1P1 lipocalin 1 pseudogene 1 pseudogene pseudogene Approved 9q34.2 09q34.2 bA430N14.2 LCN1L1 lipocalin 1-like 1 2004-05-27 2010-10-19 2010-10-19 2017-08-10 286310 ENSG00000119440 OTTHUMG00000020859 NG_022883 Q5VSP4 PGOHUM00000304061 HGNC:23412 +HGNC:23680 LCN1P2 lipocalin 1 pseudogene 2 pseudogene pseudogene Approved 9q34.2 09q34.2 bA244N20.11 LCN1L2 lipocalin 1-like 2 2005-12-22 2010-10-19 2010-10-19 2020-04-20 653163 ENSG00000204031 OTTHUMG00000020863 NG_009693 PGOHUM00000304469 HGNC:23680 +HGNC:6526 LCN2 lipocalin 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "NGAL|24p3" "oncogene 24p3|neutrophil gelatinase-associated lipocalin|siderocalin" lipocalin 2 (oncogene 24p3) Lipocalins 631 1994-04-29 2007-12-18 2016-10-05 3934 ENSG00000148346 OTTHUMG00000020734 uc064wbc.1 NM_005564 CCDS6892 P80188 7683678 MGI:96757 RGD:69408 600181 HGNC:6526 "ENST00000277480.7|NM_005564.5" +HGNC:17337 LCN6 lipocalin 6 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "Lipocalins|MicroRNA protein coding host genes" "631|1691" 2002-01-11 2015-09-03 158062 ENSG00000267206 OTTHUMG00000020941 uc004ciy.4 AF303084 NM_198946 CCDS7005 P62502 MGI:3045364 RGD:1302986 609379 HGNC:17337 "ENST00000341206.9|NM_198946.3" +HGNC:27038 LCN8 lipocalin 8 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 LCN5 "chromosome 9 open reading frame 137|lipocalin 5" Lipocalins 631 2005-01-11 2005-01-11 2014-11-19 138307 ENSG00000204001 OTTHUMG00000020942 uc004cjb.2 AK124003 NM_178469 "CCDS35183|CCDS87717" Q6JVE9 MGI:2135945 RGD:1306747 612902 HGNC:27038 "ENST00000371688.8|NM_178469.4" +HGNC:17442 LCN9 lipocalin 9 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MUP-like lipocalin|epididymal-specific lipocalin-9" Lipocalins 631 2005-01-11 2016-10-05 392399 ENSG00000148386 OTTHUMG00000020916 uc064wzo.1 AY301270 NM_001001676 CCDS56593 Q8WX39 15363845 MGI:1924954 RGD:1306341 612903 HGNC:17442 +HGNC:20892 LCN10 lipocalin 10 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 Lipocalins 631 2005-01-11 2011-10-24 414332 ENSG00000187922 OTTHUMG00000150428 uc004civ.4 AY301271 NM_001001712 CCDS35182 Q6JVE6 15363845 MGI:1925000 RGD:1564362 612904 HGNC:20892 "ENST00000497771.6|NM_001001712.3" +HGNC:28733 LCN12 lipocalin 12 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC48935 Lipocalins 631 2005-01-11 2007-12-18 2016-10-05 286256 ENSG00000184925 OTTHUMG00000020968 uc004ckb.4 BC041168 NM_178536 CCDS7018 Q6JVE5 15363845 MGI:1924951 RGD:1589474 612905 HGNC:28733 "ENST00000371633.8|NM_178536.4" HGNC:28733 +HGNC:33777 LCN15 lipocalin 15 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "UNQ2541|PRO6093" Lipocalins 631 2009-02-27 2015-09-03 389812 ENSG00000177984 OTTHUMG00000020943 uc004cjd.3 NM_203347 CCDS7006 Q6UWW0 MGI:5592908 HGNC:33777 "ENST00000316144.6|NM_203347.2" +HGNC:34436 LCNL1 lipocalin like 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FLJ45224 2009-02-27 2016-06-13 2016-06-13 401562 ENSG00000214402 OTTHUMG00000159546 uc004ckh.2 NM_207510 CCDS43908 Q6ZST4 HGNC:34436 "ENST00000408973.3|NM_207510.4" +HGNC:29503 LCOR ligand dependent nuclear receptor corepressor protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "MLR2|FLJ38026|KIAA1795|DKFZP564P1916|FLJ13022" C10orf12 chromosome 10 open reading frame 12 2006-06-14 2016-10-18 84458 ENSG00000196233 OTTHUMG00000018841 uc021pwp.2 NM_001170765 "CCDS86132|CCDS53561|CCDS7451" Q96JN0 "12535528|15193453|24550272" MGI:2443930 RGD:1311704 607698 HGNC:29503 "ENST00000421806.4|NM_001346516.2" +HGNC:30776 LCORL ligand dependent nuclear receptor corepressor like protein-coding gene gene with protein product Approved 4p15.31 04p15.31 "MLR1|FLJ30696" ligand dependent nuclear receptor corepressor-like 2006-06-14 2015-11-13 2016-10-05 254251 ENSG00000178177 OTTHUMG00000128538 uc021xmr.2 NM_153686 "CCDS3425|CCDS54749" Q8N3X6 12560079 MGI:2651932 RGD:1561241 611799 HGNC:30776 +HGNC:6528 LCP1 lymphocyte cytosolic protein 1 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "PLS2|CP64|L-PLASTIN|LC64P" plastin 2 lymphocyte cytosolic protein 1 (L-plastin) EF-hand domain containing 863 1986-01-01 2016-04-05 2016-10-05 3936 ENSG00000136167 OTTHUMG00000016864 uc058wwe.1 M22300 NM_002298 CCDS9403 P13796 2111166 MGI:104808 RGD:1308288 153430 HGNC:6528 "ENST00000323076.7|NM_002298.5" +HGNC:6529 LCP2 lymphocyte cytosolic protein 2 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 SLP-76 "76 kDa tyrosine phosphoprotein|SH2 domain-containing leukocyte protein of 76kD" SLP76 "lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)|lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)" SH2 domain containing 741 1996-03-12 2015-11-10 2015-11-10 3937 ENSG00000043462 OTTHUMG00000163121 uc003man.2 NM_005565 CCDS47339 Q13094 7706237 MGI:1321402 RGD:619743 601603 HGNC:6529 "ENST00000046794.10|NM_005565.5" +HGNC:6530 LCT lactase protein-coding gene gene with protein product Approved 2q21.3 02q21.3 Glycoside hydrolase family 1 1652 1989-05-29 2021-04-13 3938 ENSG00000115850 OTTHUMG00000131738 uc002tuu.2 X07994 NM_002299 CCDS2178 P09848 MGI:104576 RGD:620823 LRG_338|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_338.xml 603202 123008 "3.2.1.108|3.2.1.62" HGNC:6530 "ENST00000264162.7|NM_002299.4" HGNC:6530 +HGNC:40337 LCT-AS1 LCT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.3 02q21.3 Antisense RNAs 1987 2019-08-16 2021-11-18 100507600 ENSG00000226806 OTTHUMG00000153579 NR_045486 29429387 HGNC:40337 +HGNC:15583 LCTL lactase like protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "KLPH|FLJ33279|KLG" "klotho gamma|KL lactase phlorizin hydrolase|gammaklotho" Glycoside hydrolase family 1 1652 2005-07-26 2015-11-23 2021-07-29 197021 ENSG00000188501 OTTHUMG00000133207 uc002aqc.5 AY358729 NM_207338 "CCDS10220|CCDS61678" Q6UWM7 12084582 MGI:2183549 RGD:1305177 617060 HGNC:15583 +HGNC:30136 LDAF1 lipid droplet assembly factor 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 promethin TMEM159 transmembrane protein 159 2006-06-14 2021-03-12 2021-03-12 2021-03-12 57146 ENSG00000011638 OTTHUMG00000131559 uc002dih.5 AF070596 NM_020422 "CCDS10595|CCDS76842|CCDS76841" Q96B96 "29187527|30901948|31708432" MGI:1925752 RGD:727895 611304 HGNC:30136 "ENST00000233047.9|NM_001301771.2" +HGNC:26145 LDAH lipid droplet associated hydrolase protein-coding gene gene with protein product Approved 2p24.1 02p24.1 FLJ21820 C2orf43 chromosome 2 open reading frame 43 2006-07-26 2015-03-26 2015-03-26 2015-03-26 60526 ENSG00000118961 OTTHUMG00000122097 AK025473 NM_021925 "CCDS62865|CCDS74489|CCDS62864|CCDS1702|CCDS74488" Q9H6V9 "17135363|24357060" MGI:1916082 RGD:1311648 613570 HGNC:26145 "ENST00000237822.8|NM_021925.4" +HGNC:6532 LDB1 LIM domain binding 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "NLI|CLIM2" carboxy terminal LIM domain protein 2 Wnt enhanceosome complex 1677 1999-01-22 2016-10-05 8861 ENSG00000198728 OTTHUMG00000018950 uc001kuk.6 AF068652 NM_001113407 "CCDS44472|CCDS7528" Q86U70 "9503020|9799849" MGI:894762 RGD:1310359 603451 HGNC:6532 "ENST00000673968.1|NM_001113407.3" +HGNC:6533 LDB2 LIM domain binding 2 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "CLIM1|LDB1" Wnt enhanceosome complex 1677 1999-01-22 2016-10-05 9079 ENSG00000169744 OTTHUMG00000048212 uc003goz.5 AF068651 NM_001130834 "CCDS77903|CCDS77902|CCDS3420|CCDS47031" O43679 "9853615|9880598|10861853" MGI:894670 RGD:1307921 603450 HGNC:6533 "ENST00000304523.10|NM_001290.5" +HGNC:15710 LDB3 LIM domain binding 3 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "PDLIM6|KIAA0613|ZASP" "cypher|oracle|Z-band alternatively spliced PDZ motif protein" CMD1C cardiomyopathy, dilated 1C (autosomal dominant) "LIM domain containing|PDZ domain containing" "1218|1220" 2001-12-04 2021-04-13 11155 ENSG00000122367 OTTHUMG00000018655 uc001kdv.4 AB014513 NM_001080114 "CCDS44450|CCDS41545|CCDS7377|CCDS53550|CCDS53549|CCDS41544" O75112 "10427098|23271734|23996002|14662268" MGI:1344412 RGD:1564875 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LDB3|LRG_385|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_385.xml" 605906 123010 HGNC:15710 "ENST00000361373.9|NM_007078.3" HGNC:15710 +HGNC:49677 LDC1P leucine decarboxylase 1, pseudogene pseudogene pseudogene Approved 1p35.2 01p35.2 LINC01225 "long intergenic non-protein coding RNA 1225|LINC01225 pseudogene" 2014-02-04 2019-06-14 2019-06-14 2019-06-14 149086 ENSG00000260386 OTTHUMG00000174814 NR_034112 "26938303|29108956" MGI:2685699 HGNC:49677 +HGNC:6535 LDHA lactate dehydrogenase A protein-coding gene gene with protein product Approved 11p15.1 11p15.1 2001-06-22 2021-05-26 3939 ENSG00000134333 OTTHUMG00000167721 uc001mok.4 X02152 NM_005566 "CCDS7839|CCDS44549|CCDS53609|CCDS53610|CCDS53611" P00338 3000353 MGI:96759 RGD:2996 150000 123015 1.1.1.27 HGNC:6535 "ENST00000422447.8|NM_005566.4" HGNC:6535 +HGNC:28335 LDHAL6A lactate dehydrogenase A like 6A protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "MGC23940|LDH6A" 2004-07-27 2016-04-28 2016-04-28 160287 ENSG00000166800 OTTHUMG00000167724 uc001moq.3 AK131523 NM_144972 CCDS7841 Q6ZMR3 18351441 618928 HGNC:28335 "ENST00000280706.3|NM_144972.5" +HGNC:21481 LDHAL6B lactate dehydrogenase A like 6B protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "LDHL|LDH6B" LDHAL6 lactate dehydrogenase A-like 6 2004-06-23 2004-07-28 2016-04-28 2016-10-05 92483 ENSG00000171989 OTTHUMG00000132714 uc002agb.5 AY009108 NM_033195 CCDS10171 Q9BYZ2 15870898 MGI:2146830 RGD:727955 HGNC:21481 "ENST00000307144.6|NM_033195.3" +HGNC:39423 LDHAL6CP lactate dehydrogenase A like 6C, pseudogene pseudogene pseudogene Approved 12q14.2 12q14.2 LDH6C 2012-07-24 2016-04-28 2017-03-22 121498 ENSG00000250517 OTTHUMG00000160114 NG_021722 19679512 PGOHUM00000291705 HGNC:39423 +HGNC:44239 LDHAL6DP lactate dehydrogenase A like 6D, pseudogene pseudogene pseudogene Approved 11q14.1 11q14.1 2012-07-24 2016-04-28 2016-04-28 100420508 ENSG00000250257 OTTHUMG00000160113 NG_024390 PGOHUM00000242388 HGNC:44239 +HGNC:44241 LDHAL6EP lactate dehydrogenase A like 6E, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 2012-07-24 2016-04-28 2017-10-26 100420462 ENSG00000270098 OTTHUMG00000160110 NG_025129 PGOHUM00000299884 HGNC:44241 +HGNC:44240 LDHAL6FP lactate dehydrogenase A like 6F, pseudogene pseudogene pseudogene Approved 6q25.3 06q25.3 2012-07-24 2016-04-28 2016-04-28 100420477 ENSG00000217783 OTTHUMG00000015891 NG_025884 PGOHUM00000243426 HGNC:44240 +HGNC:6536 LDHAP1 lactate dehydrogenase A pseudogene 1 pseudogene pseudogene Approved 4p16.2 04p16.2 LDHAL1 lactate dehydrogenase A-like 1 2001-06-22 2010-10-19 2010-10-19 2012-10-02 3940 ENSG00000251587 OTTHUMG00000159967 NG_003016 3793094 HGNC:6536 +HGNC:6537 LDHAP2 lactate dehydrogenase A pseudogene 2 pseudogene pseudogene Approved 1q42.3 01q42.3 LDHAL2 lactate dehydrogenase A-like 2 2001-06-22 2010-10-19 2010-10-19 2020-04-20 100190799 ENSG00000235674 OTTHUMG00000040747 NG_008633 3793094 PGOHUM00000245261 HGNC:6537 +HGNC:6538 LDHAP3 lactate dehydrogenase A pseudogene 3 pseudogene pseudogene Approved 2p21 02p21 LDHAL3 lactate dehydrogenase A-like 3 1989-05-10 2010-10-19 2010-10-19 2014-11-19 442013 ENSG00000236090 OTTHUMG00000152304 NG_009318 3180843 PGOHUM00000259778 HGNC:6538 +HGNC:6539 LDHAP4 lactate dehydrogenase A pseudogene 4 pseudogene pseudogene Approved 9p22.3 09p22.3 LDHAL4 lactate dehydrogenase A-like 4 1989-05-10 2010-10-19 2010-10-19 2014-11-18 158222 ENSG00000214110 OTTHUMG00000019577 NG_001313 3180843 PGOHUM00000260451 HGNC:6539 +HGNC:6540 LDHAP5 lactate dehydrogenase A pseudogene 5 pseudogene pseudogene Approved 10q26.11 10q26.11 LDHAL5 lactate dehydrogenase A-like 5 1989-05-10 2010-10-19 2010-10-19 2014-11-19 729666 ENSG00000213574 OTTHUMG00000019139 NG_008632 3180843 PGOHUM00000238635 HGNC:6540 +HGNC:23144 LDHAP7 lactate dehydrogenase A pseudogene 7 pseudogene pseudogene Approved 2p11.2 02p11.2 LDHAL7 lactate dehydrogenase A-like 7 2003-09-18 2010-10-20 2010-10-20 2020-04-20 100190800 ENSG00000235847 OTTHUMG00000152923 NG_008634 PGOHUM00000259738 HGNC:23144 +HGNC:6541 LDHB lactate dehydrogenase B protein-coding gene gene with protein product Approved 12p12.1 12p12.1 2001-06-22 2021-05-26 3945 ENSG00000111716 OTTHUMG00000133760 uc001rfe.4 NM_002300 CCDS8691 P07195 477403 MGI:96763 RGD:2997 150100 123017 1.1.1.27 HGNC:6541 "ENST00000350669.5|NM_002300.8" HGNC:6541 +HGNC:6542 LDHBP1 lactate dehydrogenase B pseudogene 1 pseudogene pseudogene Approved 13q34 13q34 LDHBL1 lactate dehydrogenase B-like 1 1989-05-10 2010-10-20 2010-10-20 2020-04-20 100289475 ENSG00000232662 OTTHUMG00000017383 NG_021974 PGOHUM00000248687 HGNC:6542 +HGNC:6543 LDHBP2 lactate dehydrogenase B pseudogene 2 pseudogene pseudogene Approved Xq13.3 Xq13.3 "LDHBP|LDHBL2" "lactate dehydrogenase B pseudogene|lactate dehydrogenase B-like 2" 1989-05-10 2010-10-20 2010-10-20 2011-01-12 3947 ENSG00000213684 OTTHUMG00000021877 M60601 NG_001155 2393406 PGOHUM00000241405 HGNC:6543 +HGNC:39136 LDHBP3 lactate dehydrogenase B pseudogene 3 pseudogene pseudogene Approved 5q14.3 05q14.3 2010-10-20 2010-10-20 100129283 ENSG00000248950 OTTHUMG00000160111 NG_016809 PGOHUM00000235310 HGNC:39136 +HGNC:6544 LDHC lactate dehydrogenase C protein-coding gene gene with protein product Approved 11p15.1 11p15.1 CT32 cancer/testis antigen 32 2001-06-22 2014-11-18 3948 ENSG00000166796 OTTHUMG00000167722 uc001mon.5 AY286300 NM_017448 CCDS7840 P07864 MGI:96764 RGD:69366 150150 1.1.1.27 HGNC:6544 "ENST00000541669.6|NM_017448.5" +HGNC:19708 LDHD lactate dehydrogenase D protein-coding gene gene with protein product Approved 16q23.1 16q23.1 2002-11-13 2016-10-05 197257 ENSG00000166816 OTTHUMG00000137605 uc002fdm.4 AY092767 NM_153486 "CCDS45529|CCDS10913" Q86WU2 12127981 MGI:106428 RGD:1308107 607490 HGNC:19708 "ENST00000450168.3|NM_194436.3" +HGNC:6547 LDLR low density lipoprotein receptor protein-coding gene gene with protein product Approved 19p13.2 19p13.2 LDLCQ2 familial hypercholesterolemia "Low density lipoprotein receptors|MicroRNA protein coding host genes" "634|1691" 1986-01-01 2008-08-01 2021-05-26 3949 ENSG00000130164 OTTHUMG00000171935 uc002mqk.5 AY114155 NM_000527 "CCDS56085|CCDS58651|CCDS12254|CCDS56083|CCDS56084" P01130 MGI:96765 RGD:2998 "UCL LDLR-LOVD, British Heart Foundation variant database|http://databases.lovd.nl/shared/genes/LDLR|UMD Locus Specific Databases|http://www.umd.be/|LRG_274|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_274.xml" 606945 123021 HGNC:6547 "ENST00000558518.6|NM_000527.5" HGNC:6547 +HGNC:54407 LDLR-AS1 LDLR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 BM450697 Antisense RNAs 1987 2019-08-08 2020-09-09 2020-09-09 115271120 NR_163945 31279228 HGNC:54407 +HGNC:32069 LDLRAD1 low density lipoprotein receptor class A domain containing 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 low density lipoprotein receptor A domain containing 1 2005-07-14 2005-10-07 2015-09-03 388633 ENSG00000203985 OTTHUMG00000008433 uc001cwm.3 NM_001010978 "CCDS60145|CCDS60146|CCDS60147|CCDS30725" Q5T700 MGI:3652166 RGD:1597398 HGNC:32069 "ENST00000371360.2|NM_001010978.4" +HGNC:32071 LDLRAD2 low density lipoprotein receptor class A domain containing 2 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 low density lipoprotein receptor A domain containing 2 2005-07-14 2005-10-07 2015-09-03 401944 ENSG00000187942 OTTHUMG00000002675 uc001bfg.1 AL590103 NM_001013693 CCDS30624 Q5SZI1 MGI:3588210 RGD:1564888 HGNC:32071 "ENST00000344642.7|NM_001013693.3" +HGNC:27046 LDLRAD3 low density lipoprotein receptor class A domain containing 3 protein-coding gene gene with protein product Approved 11p13 11p13 LRAD3 MicroRNA protein coding host genes 1691 2005-10-07 2014-11-18 143458 ENSG00000179241 OTTHUMG00000166313 uc001mwk.2 AK075546 NM_174902 "CCDS76394|CCDS31462" Q86YD5 21795536 MGI:2138856 RGD:1307846 617986 HGNC:27046 "ENST00000315571.6|NM_174902.4" +HGNC:1224 LDLRAD4 low density lipoprotein receptor class A domain containing 4 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 clone 22 C18orf1 chromosome 18 open reading frame 1 MicroRNA protein coding host genes 1691 1998-08-06 2012-10-24 2012-10-24 2020-09-17 753 ENSG00000168675 OTTHUMG00000181925 uc031rhm.2 "AF009424|AF009428" NM_181481 "CCDS32793|CCDS62393|CCDS42415|CCDS62392|CCDS32794|CCDS32795" O15165 "9479497|9129712|24627487" MGI:1277150 RGD:1587105 606571 HGNC:1224 +HGNC:48592 LDLRAD4-AS1 LDLRAD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 Antisense RNAs 1987 2013-05-21 2013-05-21 100288122 ENSG00000267690 OTTHUMG00000181929 BC042085 NR_040031 LDLRAD4-AS1 HGNC:48592 +HGNC:18640 LDLRAP1 low density lipoprotein receptor adaptor protein 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "ARH|ARH2|FHCB1|FHCB2|MGC34705|DKFZp586D0624" autosomal recessive hypercholesterolemia 2005-02-24 2021-04-13 26119 ENSG00000157978 OTTHUMG00000007386 uc001bkl.5 BC029770 NM_015627 CCDS30639 Q5SW96 MGI:2140175 RGD:1563417 LRG_276|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_276.xml 605747 123023 HGNC:18640 "ENST00000374338.5|NM_015627.3" HGNC:18640 +HGNC:6548 LDOC1 LDOC1 regulator of NFKB signaling protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 "Mar7|Mart7|SIRH7|RTL7" "Sushi-Ichi retrotransposon homolog 7|mammalian retrotransposon-derived 7|retrotransposon Gag like 7" BCUR1 leucine zipper down-regulated in cancer 1 Retrotransposon Gag like 1409 2000-05-19 2019-01-21 2019-01-21 23641 ENSG00000182195 OTTHUMG00000022558 uc004fbj.5 AB019527 NM_012317 CCDS14672 O95751 "10403563|15716091|16093683" MGI:2685212 RGD:1565644 300402 HGNC:6548 "ENST00000370526.5|NM_012317.4" +HGNC:29571 LEAP2 liver enriched antimicrobial peptide 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 LEAP-2 liver expressed antimicrobial peptide 2 2006-08-22 2016-07-11 2016-07-11 116842 ENSG00000164406 OTTHUMG00000059837 uc003kyc.4 "AJ409065|BX443829" NM_052971 CCDS4163 Q969E1 12493837 MGI:2672795 611373 ligandId:9734 HGNC:29571 "ENST00000296877.3|NM_052971.3" +HGNC:6550 LECT2 leukocyte cell derived chemotaxin 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "chm-II|chm2" leukocyte cell-derived chemotaxin 2 1997-12-19 2016-01-22 2016-01-22 3950 ENSG00000145826 OTTHUMG00000129146 uc003lbe.1 AB007546 NM_002302 CCDS4190 O14960 9545637 MGI:1278342 RGD:1305404 602882 470590 HGNC:6550 "ENST00000274507.6|NM_002302.3" +HGNC:6551 LEF1 lymphoid enhancer binding factor 1 protein-coding gene gene with protein product Approved 4q25 04q25 "TCF1ALPHA|TCF10|TCF7L3" lymphoid enhancer-binding factor 1 "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1991-06-05 2016-01-13 2016-01-13 51176 ENSG00000138795 OTTHUMG00000131809 uc003hyt.3 NM_001130713 "CCDS47123|CCDS54791|CCDS3679|CCDS47122" Q9UJU2 1783375 MGI:96770 RGD:620241 LEF1 153245 470592 HGNC:6551 "ENST00000265165.6|NM_016269.5" +HGNC:40339 LEF1-AS1 LEF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q25 04q25 LEF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-28 2012-08-15 2018-08-23 641518 ENSG00000232021 OTTHUMG00000161028 uc062yxd.1 NR_029373 "27591862|28894380" MGI:5663489 LEF1-AS1 HGNC:40339 +HGNC:6552 LEFTY1 left-right determination factor 1 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 LEFTYB LEFTB left-right determination, factor B Transforming growth factor beta superfamily 1932 1999-07-09 2004-11-17 2004-11-17 2016-10-05 10637 ENSG00000243709 OTTHUMG00000037443 uc001hpo.3 AF081507 NM_020997 CCDS1548 O75610 "10053005|10886363" MGI:107405 RGD:1561867 603037 470594 HGNC:6552 "ENST00000272134.5|NM_020997.4" +HGNC:3122 LEFTY2 left-right determination factor 2 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "LEFTA|LEFTYA" transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A) "TGFB4|EBAF" endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily) Transforming growth factor beta superfamily 1932 1998-01-20 2004-11-17 2004-11-17 2021-05-26 7044 ENSG00000143768 OTTHUMG00000037441 uc001hpt.3 U81523 NM_003240 "CCDS1549|CCDS53479" O00292 9153275 MGI:2443573 601877 168165 HGNC:3122 "ENST00000366820.10|NM_003240.5" +HGNC:55878 LEFTY3P left-right determination factor 3, pseudogene pseudogene pseudogene Approved LEFTY3 2021-10-05 2021-10-05 286754 ENSG00000234112 NG_002438 10886363 PGOHUM00000296787 +HGNC:33765 LEKR1 leucine, glutamate and lysine rich 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 FLJ16641 2008-02-21 2008-02-21 2015-08-25 389170 ENSG00000197980 OTTHUMG00000160130 uc021xgh.1 AK131473 NM_001004316 CCDS54660 Q6ZMV7 MGI:3645902 RGD:1565425 613536 HGNC:33765 "ENST00000356539.9|NM_001004316.3" +HGNC:32046 LELP1 late cornified envelope like proline rich 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 2005-11-03 2016-04-06 2016-04-06 149018 ENSG00000203784 OTTHUMG00000013935 uc001fbl.5 NM_001010857 CCDS30869 Q5T871 MGI:1916582 RGD:7528988 611042 HGNC:32046 "ENST00000368747.2|NM_001010857.3" +HGNC:18725 LEMD1 LEM domain containing 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "LEMP-1|CT50" cancer/testis antigen 50 "LEM domain containing|MicroRNA protein coding host genes" "1087|1691" 2002-06-06 2014-11-19 93273 ENSG00000186007 OTTHUMG00000037201 uc001hcj.4 NM_001001552 "CCDS55678|CCDS55679|CCDS30986|CCDS55677" Q68G75 15254688 MGI:1922403 610480 HGNC:18725 "ENST00000367153.9|NM_001199050.2" +HGNC:44132 LEMD1-AS1 LEMD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 LEMD1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 284576 ENSG00000226235 OTTHUMG00000037200 uc001hch.1 AK090497 NR_038425 LEMD1-AS1 HGNC:44132 +HGNC:27631 LEMD1-DT LEMD1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 LEMD1-DT Divergent transcripts 1990 2019-05-15 2019-05-15 2019-05-15 2019-05-15 284577 ENSG00000224717 OTTHUMG00000037202 NR_148934 HGNC:27631 +HGNC:21244 LEMD2 LEM domain nuclear envelope protein 2 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "dJ482C21.1|NET25|LEM2" lamina-associated polypeptide-emerin-MAN1 domain containing 2 LEM domain containing 2 LEM domain containing 1087 2003-05-29 2019-10-03 2019-10-03 221496 ENSG00000161904 OTTHUMG00000014535 uc011drm.3 NM_181336 "CCDS47411|CCDS4785" Q8NC56 "16339967|28056360|28242692|31147383" MGI:2385045 RGD:1305341 616312 464297 HGNC:21244 "ENST00000293760.10|NM_181336.4" HGNC:21244 +HGNC:28887 LEMD3 LEM domain containing 3 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 MAN1 "inner nuclear membrane protein Man1|MAN antigen 1" LEM domain containing 1087 2004-11-01 2020-05-27 23592 ENSG00000174106 OTTHUMG00000168840 uc001ssl.3 AF263918 NM_001167614 CCDS8972 Q9Y2U8 "10671519|15489854" MGI:3580376 RGD:1596822 607844 123031 HGNC:28887 "ENST00000308330.3|NM_014319.5" HGNC:28887 +HGNC:14429 LENEP lens epithelial protein protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LEP503 2001-02-20 2016-10-05 55891 ENSG00000163352 OTTHUMG00000037417 uc057lke.1 AF268478 NM_018655 CCDS1080 Q9Y5L5 "10655141|11376938" MGI:1930020 RGD:69433 607377 HGNC:14429 "ENST00000392487.2|NM_001394530.1" +HGNC:15502 LENG1 leukocyte receptor cluster member 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 leukocyte receptor cluster (LRC) member 1 "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2004-01-28 2016-06-01 2016-10-05 79165 ENSG00000105617 OTTHUMG00000066486 uc002qdm.4 AF211966 NM_024316 CCDS12881 Q96BZ8 10941842 MGI:1917007 RGD:1307933 HGNC:15502 "ENST00000222224.4|NM_024316.3" +HGNC:15500 LENG8 leukocyte receptor cluster member 8 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "KIAA1932|MGC40108|pp13842" leukocyte receptor cluster (LRC) member 8 2004-01-28 2016-06-01 2016-10-05 114823 ENSG00000167615 OTTHUMG00000065548 uc032iea.2 AF211975 NM_052925 CCDS12894 Q96PV6 10941842 MGI:2142195 RGD:1306180 616575 HGNC:15500 "ENST00000326764.10|NM_052925.4" +HGNC:40705 LENG8-AS1 LENG8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 LENG8 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 104355426 ENSG00000226696 OTTHUMG00000133686 uc061cqw.1 NR_126418 LENG8-AS1 HGNC:40705 +HGNC:16306 LENG9 leukocyte receptor cluster member 9 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 leukocyte receptor cluster (LRC) member 9 2004-01-28 2016-06-01 2016-06-01 94059 ENSG00000275183 OTTHUMG00000188273 uc032mqr.2 AF211976 NM_198988 CCDS77358 Q96B70 10941842 MGI:2444509 RGD:6488215 HGNC:16306 "ENST00000611161.2|NM_001301782.2" +HGNC:30401 LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component protein-coding gene gene with protein product Approved 15q21.2 15q21.2 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) Paf1/RNA polymerase II complex 1029 2005-07-20 2015-07-02 2015-07-02 123169 ENSG00000166477 OTTHUMG00000131843 uc002abo.5 AY302186 NM_138792 "CCDS66767|CCDS10146" Q8WVC0 "15632063|24038468" MGI:2685031 RGD:1549772 610507 HGNC:30401 "ENST00000299601.10|NM_138792.4" +HGNC:6553 LEP leptin protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "OBS|OB" "leptin (murine obesity homolog)|leptin (obesity homolog, mouse)" Neuropeptides 1902 1993-01-26 2008-03-06 2016-10-05 3952 ENSG00000174697 OTTHUMG00000157564 uc003vml.3 NM_000230 CCDS5800 P41159 "1686014|16932309" MGI:104663 RGD:3000 164160 123034 ligandId:5015 HGNC:6553 "ENST00000308868.5|NM_000230.3" HGNC:6553 +HGNC:6554 LEPR leptin receptor protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "OBR|CD295" "CD molecules|Immunoglobulin like domain containing" "471|594" 1996-05-09 2021-05-26 3953 ENSG00000116678 OTTHUMG00000009115 uc001dci.4 U43168 NM_002303 "CCDS55604|CCDS631|CCDS30741|CCDS30740" P48357 "8548812|8812446" MGI:104993 RGD:3001 LRG_283|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_283.xml 601007 123038 objectId:1712 CD295 HGNC:6554 "ENST00000349533.11|NM_002303.6" HGNC:6554 +HGNC:29477 LEPROT leptin receptor overlapping transcript protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "OBRGRP|OB-RGRP|VPS55|FLJ90360" "leptin receptor gene related protein|endospanin-1|endospanin" 2004-11-16 2017-06-13 54741 ENSG00000213625 OTTHUMG00000009065 uc001dcf.4 Y12670 NM_017526 "CCDS630|CCDS72801" O15243 "9207021|21454707" MGI:2687005 RGD:621034 613461 HGNC:29477 "ENST00000371065.9|NM_017526.5" +HGNC:6555 LEPROTL1 leptin receptor overlapping transcript like 1 protein-coding gene gene with protein product Approved 8p12 08p12 "my047|Vps55" endospanin-2 2000-06-15 2017-06-13 2020-11-17 23484 ENSG00000104660 OTTHUMG00000163820 uc003xhw.5 AF063605 NM_001128208 "CCDS6075|CCDS47834" O95214 11342119 MGI:1915442 RGD:1307168 607338 HGNC:6555 "ENST00000321250.13|NM_015344.3" +HGNC:51182 LERFS lncRNA negative regulator of fibroblast-like synoviocyte migration, SYNCRIP interacting non-coding RNA RNA, long non-coding Approved 9q13 09q13 lowly expressed in rheumatoid fibroblast-like synoviocytes Long non-coding RNAs with non-systematic symbols 1992 2019-06-20 2019-06-20 403323 ENSG00000234665 OTTHUMG00000013293 NR_122076 30198906 HGNC:51182 +HGNC:6556 LETM1 leucine zipper and EF-hand containing transmembrane protein 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 SLC55A1 Mdm38 homolog (yeast) "Solute carriers|EF-hand domain containing" "752|863" 1998-05-13 2016-02-29 2017-11-24 3954 ENSG00000168924 OTTHUMG00000121149 uc003gdv.3 AF061025 NM_012318 CCDS3355 O95202 10486213 MGI:1932557 RGD:1359678 604407 293326 objectId:3025 HGNC:6556 "ENST00000302787.3|NM_012318.3" +HGNC:14649 LETM1P1 leucine zipper and EF-hand containing transmembrane protein 1 pseudogene 1 pseudogene pseudogene Approved 15q22.31 15q22.31 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 1 2008-02-01 2016-02-29 2016-02-29 390597 NG_007651 11549311 HGNC:14649 +HGNC:33985 LETM1P2 leucine zipper and EF-hand containing transmembrane protein 1 pseudogene 2 pseudogene pseudogene Approved 19q13.43 19q13.43 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 2 2008-02-01 2016-02-29 2016-02-29 100131934 ENSG00000268660 OTTHUMG00000183382 NG_007659 PGOHUM00000234818 HGNC:33985 +HGNC:33986 LETM1P3 leucine zipper and EF-hand containing transmembrane protein 1 pseudogene 3 pseudogene pseudogene Approved 8q22.2 08q22.2 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 3 2008-02-01 2016-02-29 2016-02-29 100151646 NG_007658 HGNC:33986 +HGNC:14648 LETM2 leucine zipper and EF-hand containing transmembrane protein 2 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "FLJ25409|SLC55A2" "Solute carriers|EF-hand domain containing" "752|863" 2004-07-09 2016-02-29 2017-11-24 137994 ENSG00000165046 OTTHUMG00000165059 uc003xlm.4 AK058138 NM_144652 "CCDS56534|CCDS69466|CCDS75731|CCDS6106|CCDS83282" Q2VYF4 11549311 MGI:2444979 RGD:1311220 objectId:3026 HGNC:14648 "ENST00000379957.9|NM_001286819.2" +HGNC:24241 LETMD1 LETM1 domain containing 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "HCCR1|HCCR|HCCR-2|HCCR-1|HCCR2|SLC55A3" "cervical cancer 1 protooncogene|human cervical cancer oncogene" Solute carriers 752 2004-08-27 2017-11-24 25875 ENSG00000050426 OTTHUMG00000169538 uc001rxm.4 AF195651 NM_015416 "CCDS44883|CCDS8806|CCDS86301|CCDS73469|CCDS58231" Q6P1Q0 "12879013|12061725" MGI:1915864 RGD:1596738 619070 objectId:3027 HGNC:24241 "ENST00000262055.9|NM_015416.5" +HGNC:49597 LETR1 lymphatic endothelial transcriptional regulator lncRNA 1 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 LINC01197 long intergenic non-protein coding RNA 1197 Long non-coding RNAs with non-systematic symbols 1992 2014-01-21 2021-02-10 2021-02-10 2022-01-19 400456 ENSG00000248441 OTTHUMG00000171818 BC040875 NR_034095 "33568674|31027497|32196587" LINC01197 HGNC:49597 +HGNC:31953 LEUTX leucine twenty homeobox protein-coding gene gene with protein product Approved 19q13.2 19q13.2 PRD class homeoboxes and pseudogenes 521 2008-02-02 2018-11-16 342900 ENSG00000213921 OTTHUMG00000170877 uc010xvg.3 NM_001143832 A8MZ59 618701 8635 HGNC:31953 "ENST00000638280.2|NM_001382345.1" +HGNC:26854 LEXM lymphocyte expansion molecule protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "FLJ40201|LEM" C1orf177 chromosome 1 open reading frame 177 2005-07-25 2015-09-02 2015-09-02 2015-09-02 163747 ENSG00000162398 OTTHUMG00000009986 AK097520 NM_152607 "CCDS44153|CCDS599" Q3ZCV2 25883318 MGI:2681853 RGD:1559493 616446 HGNC:26854 "ENST00000371273.4|NM_001110533.2" +HGNC:6560 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 7p22.3 07p22.3 SCDO3 "lunatic fringe (Drosophila) homolog|lunatic fringe homolog (Drosophila)" "Beta 3-glycosyltransferases|MicroRNA protein coding host genes" "426|1691" 1997-11-07 2006-11-13 2021-05-26 3955 ENSG00000106003 OTTHUMG00000152043 uc003smf.4 BC014851 NM_002304 "CCDS55081|CCDS34587|CCDS34586|CCDS55082" Q8NES3 "9878264|9187150" MGI:1095413 RGD:620587 602576 159744 2.4.1.222 HGNC:6560 "ENST00000222725.10|NM_001040167.2" HGNC:6560 +HGNC:6561 LGALS1 galectin 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 GBP lectin, galactoside-binding, soluble, 1 "Receptor ligands|Galectins" "542|629" 1991-09-13 2016-05-13 2016-05-13 3956 ENSG00000100097 OTTHUMG00000150661 uc003atn.4 NM_002305 CCDS13954 P09382 "1988031|12271131" MGI:96777 RGD:69355 150570 ligandId:6603 HGNC:6561 "ENST00000215909.10|NM_002305.4" +HGNC:6562 LGALS2 galectin 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 HL14 lectin, galactoside-binding, soluble, 2 Galectins 629 1992-07-20 2016-05-13 2016-05-13 3957 ENSG00000100079 OTTHUMG00000150590 uc003ata.4 NM_006498 CCDS13950 P05162 "1988031|15356130" MGI:895068 RGD:621269 150571 HGNC:6562 "ENST00000215886.6|NM_006498.3" +HGNC:6563 LGALS3 galectin 3 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "MAC-2|GALIG" advanced glycation end-product receptor 3 LGALS2 lectin, galactoside-binding, soluble, 3 "Receptor ligands|Galectins" "542|629" 1991-09-13 2016-05-13 2016-05-13 3958 ENSG00000131981 OTTHUMG00000171030 uc001xbr.4 M64303 NM_002306 CCDS41956 P17931 "2009535|8063692" MGI:96778 RGD:69356 153619 470596 ligandId:6619 HGNC:6563 "ENST00000254301.14|NM_002306.4" +HGNC:6564 LGALS3BP galectin 3 binding protein protein-coding gene gene with protein product Approved 17q25 17q25 "MAC-2-BP|90K|BTBD17B|TANGO10B|M2BP|gp90|CyCAP" "L3 antigen|Mac-2-binding protein|serum protein 90K|transport and golgi organization 10 homolog B (Drosophila)" lectin, galactoside-binding, soluble, 3 binding protein "Receptor ligands|BTB domain containing|Scavenger receptor cysteine rich domain containing" "542|861|1404" 1994-09-30 2016-05-13 2020-01-06 3959 ENSG00000108679 OTTHUMG00000177572 uc002jwh.4 L13210 NM_005567 CCDS11759 Q08380 "7698018|8034587|8390986" MGI:99554 RGD:620837 600626 ligandId:6615 HGNC:6564 "ENST00000262776.8|NM_005567.4" +HGNC:6565 LGALS4 galectin 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 GAL4 lectin, galactoside-binding, soluble, 4 Galectins 629 1993-08-24 2016-05-13 2016-05-13 3960 ENSG00000171747 OTTHUMG00000182608 uc002ojg.4 NM_006149 CCDS12521 P56470 8063692 MGI:107536 RGD:3003 602518 HGNC:6565 "ENST00000307751.9|NM_006149.4" +HGNC:6568 LGALS7 galectin 7 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 "GAL7|PIG1|TP53I1|LGALS7A" lectin, galactoside-binding, soluble, 7 Galectins 629 1995-05-25 2016-05-13 2016-05-13 3963 ENSG00000205076 OTTHUMG00000182606 uc002oje.4 L07769 NM_002307 CCDS33012 P47929 "7534301|7729568" MGI:1316742 RGD:61951 600615 HGNC:6568 "ENST00000378626.5|NM_002307.4" +HGNC:34447 LGALS7B galectin 7B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 GAL7 lectin, galactoside-binding, soluble, 7B Galectins 629 2008-07-25 2016-05-13 2016-05-13 653499 ENSG00000178934 OTTHUMG00000182607 uc002ojf.5 NM_001042507 CCDS42565 P47929 MGI:1316742 617139 HGNC:34447 "ENST00000314980.5|NM_001042507.4" +HGNC:6569 LGALS8 galectin 8 protein-coding gene gene with protein product Approved 1q43 01q43 PCTA-1 lectin, galactoside-binding, soluble, 8 Galectins 629 1995-05-25 2016-05-13 2016-05-13 3964 ENSG00000116977 OTTHUMG00000039953 uc001hxy.3 X91790 NM_006499 "CCDS1611|CCDS1612" O00214 "7852431|8692978" MGI:1928481 RGD:621272 606099 HGNC:6569 "ENST00000366584.9|NM_201544.4" +HGNC:40340 LGALS8-AS1 LGALS8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q43 01q43 LGALS8 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-04 2012-08-15 2014-11-19 100287902 ENSG00000223776 OTTHUMG00000039952 uc001hxx.4 NR_034040 LGALS8-AS1 HGNC:40340 +HGNC:6570 LGALS9 galectin 9 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 LGALS9A lectin, galactoside-binding, soluble, 9 "Receptor ligands|Galectins" "542|629" 1997-06-25 2016-05-13 2016-05-13 3965 ENSG00000168961 OTTHUMG00000179831 uc002gzp.4 AB006782 NM_009587 "CCDS11222|CCDS32592|CCDS82093" O00182 9045665 MGI:109496 RGD:3005 601879 ligandId:9594 HGNC:6570 "ENST00000395473.7|NM_009587.3" +HGNC:24842 LGALS9B galectin 9B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 lectin, galactoside-binding, soluble, 9B Galectins 629 2008-07-25 2016-05-13 2016-05-13 284194 ENSG00000170298 OTTHUMG00000130730 uc002gwz.1 NM_001042685 CCDS42283 Q3B8N2 11997339 MGI:109496 HGNC:24842 "ENST00000423676.8|NM_001367292.2" +HGNC:33874 LGALS9C galectin 9C protein-coding gene gene with protein product Approved 17p11.2 17p11.2 lectin, galactoside-binding, soluble, 9C Galectins 629 2008-07-25 2016-05-13 2016-05-13 654346 ENSG00000171916 OTTHUMG00000059251 uc002gtw.4 NM_001040078 CCDS32587 Q6DKI2 MGI:109496 HGNC:33874 "ENST00000328114.11|NM_001040078.3" +HGNC:49896 LGALS9DP galectin 9D, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 lectin, galactoside-binding, soluble, 9D, pseudogene 2014-03-19 2016-05-13 2016-05-13 645754 ENSG00000266786 OTTHUMG00000179205 NG_005629 PGOHUM00000237334 HGNC:49896 +HGNC:15788 LGALS12 galectin 12 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 GRIP1 lectin, galactoside-binding, soluble, 12 Galectins 629 2001-11-14 2016-05-13 2016-10-05 85329 ENSG00000133317 OTTHUMG00000167807 uc001nxa.3 AF222695 NM_033101 "CCDS44635|CCDS44634" Q96DT0 "11283015|11435439" MGI:1929094 RGD:1306914 606096 HGNC:15788 "ENST00000394618.9|NM_033101.4" +HGNC:15449 LGALS13 galectin 13 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PP13|PLAC8" lectin, galactoside-binding, soluble, 13 Galectins 629 2004-03-11 2016-05-13 2016-05-13 29124 ENSG00000105198 OTTHUMG00000183073 uc002omb.4 AF117383 NM_013268 CCDS33024 Q9UHV8 "6856484|10527825" 608717 HGNC:15449 "ENST00000221797.5|NM_013268.3" +HGNC:30054 LGALS14 galectin 14 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PPL13|CLC2" lectin, galactoside-binding, soluble, 14 Galectins 629 2004-05-17 2016-05-13 2016-05-13 56891 ENSG00000006659 OTTHUMG00000183143 uc002omf.4 AF267852 NM_020129 "CCDS46073|CCDS12542" Q8TCE9 11997112 607260 HGNC:30054 "ENST00000392052.8|NM_020129.3" +HGNC:40039 LGALS16 galectin 16 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 lectin, galactoside-binding, soluble, 16 Galectins 629 2011-08-04 2016-05-13 2016-05-13 148003 ENSG00000249861 OTTHUMG00000183083 uc021uun.2 NM_001190441 CCDS54267 A8MUM7 19497882 RGD:3004 HGNC:40039 "ENST00000392051.4|NM_001190441.3" +HGNC:25012 LGALSL galectin like protein-coding gene gene with protein product Approved 2p14 02p14 "HSPC159|GRP" galectin-related protein lectin, galactoside-binding-like 2011-08-15 2016-05-13 2016-05-13 29094 ENSG00000119862 OTTHUMG00000129541 uc002scy.5 AF161508 NM_014181 CCDS1877 Q3ZCW2 "11042152|16682780" MGI:1916114 RGD:1307414 617902 HGNC:25012 "ENST00000238875.10|NM_014181.3" +HGNC:53951 LGALSL-DT LGALSL divergent transcript non-coding RNA RNA, long non-coding Approved 2p14 02p14 LOC105374771 Divergent transcripts 1990 2018-06-20 2018-06-20 105374771 ENSG00000223935 OTTHUMG00000152670 XR_001739491 29568943 HGNC:53951 +HGNC:6572 LGI1 leucine rich glioma inactivated 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "IB1099|ETL1|EPITEMPIN" Epitempin-1 EPT epilepsy, partial LGI family 1841 1998-09-25 2016-06-06 2021-12-07 9211 ENSG00000108231 OTTHUMG00000018777 uc001kjc.5 AF055636 NM_005097 "CCDS76325|CCDS7431|CCDS81490" O95970 "9879993|11978770|15079011" MGI:1861691 RGD:628742 604619 123042 HGNC:6572 "ENST00000371418.9|NM_005097.4" HGNC:6572 +HGNC:18710 LGI2 leucine rich repeat LGI family member 2 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "KIAA1916|FLJ10675" leucine-rich repeat LGI family, member 2 LGI family 1841 2002-05-30 2016-06-06 2016-10-05 55203 ENSG00000153012 OTTHUMG00000097749 uc003grf.3 AJ487516 NM_018176 CCDS3431 Q8N0V4 "12023020|16014869" MGI:2180196 RGD:1310391 608301 HGNC:18710 "ENST00000382114.9|NM_018176.4" +HGNC:18711 LGI3 leucine rich repeat LGI family member 3 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 leucine-rich repeat LGI family, member 3 LGI family 1841 2002-05-30 2016-06-06 2016-10-05 203190 ENSG00000168481 OTTHUMG00000131599 uc003xav.4 AJ487518 NM_139278 CCDS6025 Q8N145 "12023020|18628660" MGI:2182619 RGD:1311079 608302 HGNC:18711 "ENST00000306317.7|NM_139278.4" +HGNC:18712 LGI4 leucine rich repeat LGI family member 4 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 leucine-rich repeat LGI family, member 4 LGI family 1841 2002-05-30 2016-06-06 2016-10-05 163175 ENSG00000153902 OTTHUMG00000044558 uc002nxx.3 AJ487519 NM_139284 CCDS12444 Q8N135 12023020 MGI:2180197 RGD:735035 608303 HGNC:18712 "ENST00000310123.8|NM_139284.3" HGNC:18712 +HGNC:9472 LGMN legumain protein-coding gene gene with protein product Approved 14q32.12 14q32.12 LGMN1 PRSC1 protease, cysteine, 1 (legumain) 1995-12-18 2002-01-18 2014-11-19 5641 ENSG00000100600 OTTHUMG00000171199 uc001yaw.4 D55696 NM_005606 "CCDS86424|CCDS9904|CCDS86423" Q99538 "8893817|9065484" MGI:1330838 RGD:619832 602620 C13.004 objectId:2380 HGNC:9472 "ENST00000334869.9|NM_005606.7" +HGNC:23079 LGMNP1 legumain pseudogene 1 pseudogene pseudogene Approved 13q21.31 13q21.31 LGMN2P legumain 2 pseudogene 2003-09-03 2011-04-08 2011-04-08 2016-10-05 122199 ENSG00000214269 OTTHUMG00000017029 NG_001534 PGOHUM00000248419 C13.P01 HGNC:23079 +HGNC:13299 LGR4 leucine rich repeat containing G protein-coupled receptor 4 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 GPR48 G protein-coupled receptor 48 G protein-coupled receptors, Class A orphans 262 2000-09-19 2004-11-12 2016-06-06 2016-10-05 55366 ENSG00000205213 OTTHUMG00000133508 uc001mrj.5 AF257182 NM_018490 "CCDS86187|CCDS31449" Q9BXB1 10894923 MGI:1891468 RGD:628615 606666 objectId:147 HGNC:13299 "ENST00000379214.9|NM_018490.5" +HGNC:40629 LGR4-AS1 LGR4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 Antisense RNAs 1987 2019-08-16 2019-08-16 105376671 ENSG00000254862 OTTHUMG00000166124 NR_131169 HGNC:40629 +HGNC:4504 LGR5 leucine rich repeat containing G protein-coupled receptor 5 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "HG38|FEX" "GPR67|GPR49" G protein-coupled receptor 49 G protein-coupled receptors, Class A orphans 262 1999-10-22 2004-11-12 2016-06-06 2016-06-06 8549 ENSG00000139292 OTTHUMG00000169543 uc001swl.5 AF062006 NM_003667 "CCDS61194|CCDS61195|CCDS9000" O75473 9642114 MGI:1341817 RGD:1307733 606667 objectId:148 HGNC:4504 "ENST00000266674.10|NM_003667.4" +HGNC:19719 LGR6 leucine rich repeat containing G protein-coupled receptor 6 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ14471 G protein-coupled receptors, Class A orphans 262 2003-12-04 2016-06-06 2016-06-06 59352 ENSG00000133067 OTTHUMG00000041383 uc001gxu.4 AF190501 NM_021636 "CCDS30972|CCDS30971|CCDS1424" Q9HBX8 10935549 MGI:2441805 RGD:1560339 606653 objectId:149 HGNC:19719 "ENST00000367278.8|NM_001017403.2" +HGNC:21016 LGSN lengsin, lens protein with glutamine synthetase domain protein-coding gene gene with protein product Approved 6q12 06q12 LGS GLULD1 glutamate-ammonia ligase (glutamine synthetase) domain containing 1 2003-05-02 2008-09-19 2008-09-19 2014-11-19 51557 ENSG00000146166 OTTHUMG00000014946 uc003peh.4 AF242388 NM_016571 "CCDS4964|CCDS55027" Q5TDP6 12107412 MGI:2672844 RGD:727925 611470 HGNC:21016 "ENST00000370657.9|NM_016571.3" +HGNC:39494 LGTN ligatin other unknown Approved reserved reserved 2011-01-19 2013-03-26 100529141 3805022 151625 +HGNC:6584 LHB luteinizing hormone subunit beta protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "LSH-B|CGB4|hLHB" "lutropin, beta chain|interstitial cell stimulating hormone, beta chain" luteinizing hormone beta polypeptide "Receptor ligands|Glycoprotein hormone subunits" "542|1896" 1986-01-01 2019-07-22 2021-04-13 3972 ENSG00000104826 OTTHUMG00000183334 uc002plt.4 NM_000894 CCDS12748 P01229 1191677 MGI:96782 RGD:3006 LRG_1361|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1361.xml 152780 123046 ligandId:3732 HGNC:6584 "ENST00000649238.3|NM_000894.3" HGNC:6584 +HGNC:6585 LHCGR luteinizing hormone/choriogonadotropin receptor protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "LHR|LCGR|LGR2|ULG5" HHG hypergonadotropic hypogonadism Glycoprotein hormone receptors 199 1990-03-05 2016-10-05 3973 ENSG00000138039 OTTHUMG00000129257 uc002rwu.5 NM_000233.3 CCDS1842 P22888 MGI:96783 RGD:3007 152790 123048 objectId:254 HGNC:6585 "ENST00000294954.12|NM_000233.4" HGNC:6585 +HGNC:6587 LHFPL1 LHFPL tetraspan subfamily member 1 protein-coding gene gene with protein product Approved Xq23 Xq23 lipoma HMGIC fusion partner like 1 LHFPL tetraspan proteins 1489 1999-06-02 2017-06-21 2020-04-02 340596 ENSG00000182508 OTTHUMG00000022214 uc004epq.4 AY217350 NM_178175 CCDS14562 Q86WI0 10329012 MGI:1891214 RGD:727927 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LHFPL1 300566 HGNC:6587 "ENST00000371968.8|NM_178175.4" +HGNC:6588 LHFPL2 LHFPL tetraspan subfamily member 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 KIAA0206 lipoma HMGIC fusion partner-like 2 LHFPL tetraspan proteins 1489 1999-06-02 2017-06-21 2017-06-21 10184 ENSG00000145685 OTTHUMG00000107579 uc003kfo.4 D86961 NM_005779 CCDS4042 Q6ZUX7 10329012 MGI:2145236 RGD:1309869 609718 HGNC:6588 "ENST00000380345.7|NM_005779.3" +HGNC:6589 LHFPL3 LHFPL tetraspan subfamily member 3 protein-coding gene gene with protein product Approved 7q22.2-q22.3 07q22.2-q22.3 LHFPL4 "lipoma HMGIC fusion partner-like 4|lipoma HMGIC fusion partner-like 3" LHFPL tetraspan proteins 1489 1999-06-02 2017-06-21 2018-02-13 375612 ENSG00000187416 OTTHUMG00000157273 uc064gsi.1 AY260763 NM_199000 Q86UP9 10329012 MGI:1925076 RGD:1559727 609719 HGNC:6589 "ENST00000424859.7|NM_199000.3" +HGNC:40341 LHFPL3-AS1 LHFPL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.2 07q22.2 LHFPL3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-28 2012-08-15 2021-04-21 645591 ENSG00000226869 OTTHUMG00000157276 uc064gsl.1 BC012751 NR_034142 33833527 LHFPL3-AS1 HGNC:40341 +HGNC:44106 LHFPL3-AS2 LHFPL3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 LHFPL3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2012-10-12 723809 ENSG00000225329 OTTHUMG00000157279 uc003vch.1 BC050337 NR_027374 LHFPL3-AS2 HGNC:44106 +HGNC:29568 LHFPL4 LHFPL tetraspan subfamily member 4 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 GARLH4 GABAA receptor regulatory Lhfpl4 lipoma HMGIC fusion partner-like 4 LHFPL tetraspan proteins 1489 2006-06-13 2017-06-21 2018-04-27 375323 ENSG00000156959 OTTHUMG00000155066 uc003bry.3 AY278320 NM_198560 CCDS33691 Q7Z7J7 "15905332|28279354" MGI:3057108 RGD:727967 610240 HGNC:29568 "ENST00000287585.8|NM_198560.3" +HGNC:21253 LHFPL5 LHFPL tetraspan subfamily member 5 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "MGC33835|dJ510O8.8|Tmhs" tetraspan membrane protein of hair cell stereocilia DFNB67 "deafness, autosomal recessive 67|lipoma HMGIC fusion partner-like 5" LHFPL tetraspan proteins 1489 2003-11-26 2017-06-21 2021-12-07 222662 ENSG00000197753 OTTHUMG00000014584 uc003olg.2 BC028630 NM_182548 CCDS4812 Q8TAF8 16459341 MGI:1915382 RGD:1359370 LRG_1352|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1352.xml 609427 159414 HGNC:21253 "ENST00000360215.3|NM_182548.4" HGNC:21253 +HGNC:6586 LHFPL6 LHFPL tetraspan subfamily member 6 protein-coding gene gene with protein product Approved 13q13.3-q14.11 13q13.3-q14.11 MGC22429 LHFP lipoma HMGIC fusion partner LHFPL tetraspan proteins 1489 1999-06-02 2017-06-21 2017-06-21 2018-02-13 10186 ENSG00000183722 OTTHUMG00000016767 uc001uxf.4 AF098807 NM_005780 CCDS9369 Q9Y693 10329012 MGI:1920048 RGD:1560177 606710 HGNC:6586 "ENST00000379589.4|NM_005780.3" +HGNC:33725 LHFPL7 LHFPL tetraspan subfamily member 7 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 bA9F11.1 TMEM211 transmembrane protein 211 LHFPL tetraspan proteins 1489 2008-06-10 2021-12-07 2021-12-07 2021-12-07 255349 ENSG00000206069 OTTHUMG00000150790 uc003abk.2 NM_001001663 CCDS33624 Q6ICI0 MGI:2685700 RGD:1584759 HGNC:33725 "ENST00000640159.2|NM_001388199.1" +HGNC:30042 LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase protein-coding gene gene with protein product Approved 10q26.13 10q26.13 HDHD2B "HAD Asp-based non-protein phosphatases|Haloacid dehalogenase like hydrolase domain containing" "1045|1377" 2009-11-06 2016-10-05 64077 ENSG00000107902 OTTHUMG00000019214 uc001lhs.3 AB049629 NM_022126 "CCDS7640|CCDS81519|CCDS53587" Q9H008 "12801912|16430861" MGI:1923679 RGD:1359187 617231 3.6.1.1 HGNC:30042 "ENST00000368842.10|NM_022126.4" +HGNC:6593 LHX1 LIM homeobox 1 protein-coding gene gene with protein product Approved 17q12 17q12 "LIM-1|LIM1" LIM class homeoboxes 522 1996-10-02 2015-09-03 3975 ENSG00000273706 OTTHUMG00000188456 uc032feb.2 U14755 NM_005568 CCDS11316 P48742 9212161 MGI:99783 RGD:71074 601999 8453 317394 HGNC:6593 "ENST00000614239.1|NM_005568.5" +HGNC:53778 LHX1-DT LHX1 divergent transcript non-coding RNA RNA, long non-coding Approved 17q12 17q12 Divergent transcripts 1990 2017-11-17 2017-11-17 102723471 ENSG00000277268 OTTHUMG00000188447 NR_135671 HGNC:53778 +HGNC:6594 LHX2 LIM homeobox 2 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "LH-2|hLhx2" LIM class homeoboxes 522 1999-04-15 2014-11-19 9355 ENSG00000106689 OTTHUMG00000020647 uc004boe.2 U11701 NM_004789 CCDS6853 P50458 "8649822|10051612" MGI:96785 RGD:71076 603759 8454 470598 HGNC:6594 "ENST00000373615.9|NM_004789.4" +HGNC:56163 LHX2-AS1 LHX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 Antisense RNAs 1987 2022-01-13 2022-01-13 100505588 ENSG00000236668 NR_135129 +HGNC:6595 LHX3 LIM homeobox 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 LIM class homeoboxes 522 2000-03-22 2021-05-26 8022 ENSG00000107187 OTTHUMG00000020924 uc004cgz.3 AF096169 NM_001363746 "CCDS6994|CCDS6995|CCDS87713" Q9UBR4 "10598593|10717474" MGI:102673 RGD:71078 600577 8455 123053 HGNC:6595 "ENST00000371748.10|NM_178138.6" HGNC:6595 +HGNC:21734 LHX4 LIM homeobox 4 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 Gsh4 LIM class homeoboxes 522 2003-07-21 2021-05-26 89884 ENSG00000121454 OTTHUMG00000035115 uc001goe.3 AB037683 NM_033343 CCDS1338 Q969G2 "11844481|11567216" MGI:101776 RGD:1308044 602146 8456 138383 HGNC:21734 "ENST00000263726.4|NM_033343.4" HGNC:21734 +HGNC:40982 LHX4-AS1 LHX4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 Antisense RNAs 1987 2014-05-21 2016-11-11 100527964 NR_037642 HGNC:40982 +HGNC:14216 LHX5 LIM homeobox 5 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 LIM class homeoboxes 522 2000-12-11 2014-01-15 64211 ENSG00000089116 OTTHUMG00000169552 uc001tvj.2 AF291181 NM_022363 CCDS9171 Q9H2C1 MGI:107792 RGD:71079 605992 8457 HGNC:14216 "ENST00000261731.4|NM_022363.3" +HGNC:49570 LHX5-AS1 LHX5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.13 12q24.13 locus4010 locus 4010 LHX5 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-01-11 2018-03-23 2022-02-24 104355219 ENSG00000257935 OTTHUMG00000169553 DB553737 NR_126425 23382218 LHX5-AS1 HGNC:49570 +HGNC:21735 LHX6 LIM homeobox 6 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "LHX6.1|hLHX6" LIM class homeoboxes 522 2003-07-21 2022-01-12 26468 ENSG00000106852 OTTHUMG00000020601 uc004blx.5 AB031041 NM_014368 "CCDS59144|CCDS56583|CCDS56584|CCDS6838|CCDS6837|CCDS87683" Q9UPM6 10393337 MGI:1306803 RGD:1306174 608215 8535 HGNC:21735 "ENST00000394319.9|NM_014368.5" HGNC:21735 +HGNC:28838 LHX8 LIM homeobox 8 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 Lhx7 LIM class homeoboxes 522 2005-06-02 2014-11-19 431707 ENSG00000162624 OTTHUMG00000009692 uc001dgo.3 AB050476 NM_001001933 "CCDS58008|CCDS30756" Q68G74 9598319 MGI:1096343 RGD:1308749 604425 8458 470600 HGNC:28838 "ENST00000356261.4|NM_001256114.2" +HGNC:14222 LHX9 LIM homeobox 9 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 LIM class homeoboxes 522 2000-12-11 2022-01-12 56956 ENSG00000143355 OTTHUMG00000035656 uc001gui.2 AJ277915 NM_020204 "CCDS1393|CCDS30962" Q9NQ69 "9880598|11397841" MGI:1316721 RGD:727956 606066 8459 470602 HGNC:14222 "ENST00000367387.6|NM_020204.3" +HGNC:16429 LIAS lipoic acid synthetase protein-coding gene gene with protein product Approved 4p14 04p14 LAS Lipoyl synthase, mitochondrial Radical S-adenosylmethionine domain containing 2036 2001-11-30 2018-06-13 11019 ENSG00000121897 OTTHUMG00000099369 uc003guf.5 AJ224162 NM_194451 "CCDS87218|CCDS87217|CCDS87220|CCDS63950|CCDS3453|CCDS3454" O43766 11124703 MGI:1934604 RGD:1307270 607031 404076 HGNC:16429 "ENST00000640888.2|NM_006859.4" HGNC:16429 +HGNC:6596 LIF LIF interleukin 6 family cytokine protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "CDF|DIA|HILDA" "differentiation inhibitory activity|differentiation-inducing factor|hepatocyte-stimulating factor III|cholinergic differentiation factor|human interleukin in DA cells" "leukemia inhibitory factor|LIF, interleukin 6 family cytokine" "Receptor ligands|Interleukin 6 type cytokine family" "542|1264" 1989-06-11 2019-01-25 2019-01-25 3976 ENSG00000128342 OTTHUMG00000150910 uc003agz.3 NM_002309 "CCDS13872|CCDS58799" P15018 "1714745|8058719" MGI:96787 RGD:620865 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 159540 ligandId:5016 HGNC:6596 "ENST00000249075.4|NM_002309.5" +HGNC:53473 LIF-AS1 LIF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 Lnc-LIF-AS Antisense RNAs 1987 2017-04-28 2017-04-28 110806283 ENSG00000232530 OTTHUMG00000150909 NR_149070 28391028 HGNC:53473 +HGNC:28298 LIF-AS2 LIF antisense RNA 2 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 Antisense RNAs 1987 2020-10-07 2020-10-07 91370 ENSG00000268812 NR_148946 +HGNC:6597 LIFR LIF receptor subunit alpha protein-coding gene gene with protein product Approved 5p13.1 05p13.1 CD118 "leukemia inhibitory factor receptor|leukemia inhibitory factor receptor alpha|LIF receptor alpha" "CD molecules|Fibronectin type III domain containing|MicroRNA protein coding host genes" "471|555|1691" 1992-08-24 2019-04-10 2019-04-10 3977 ENSG00000113594 OTTHUMG00000131138 uc003jli.3 X61615 NM_002310 CCDS3927 P42702 1915266 MGI:96788 RGD:621431 LIFR 151443 123055 objectId:1713 CD118 HGNC:6597 "ENST00000453190.7|NM_001127671.2" HGNC:6597 +HGNC:43600 LIFR-AS1 LIFR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 LIFR antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-23 2012-08-15 2018-06-08 100506495 ENSG00000244968 OTTHUMG00000162109 uc003jlj.5 BC038371 NR_103553 "26725846|29807108" LIFR-AS1 HGNC:43600 +HGNC:6598 LIG1 DNA ligase 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "LIGI|hLig1" DNA ligase I ligase I, DNA, ATP-dependent "DNA ligases|Nucleotide excision repair" "1247|1269" 1991-05-09 2016-04-27 2022-01-12 3978 ENSG00000105486 OTTHUMG00000183187 uc002pia.2 NM_000234 "CCDS74410|CCDS12711|CCDS74409" P18858 "1733856|11032816" MGI:101789 RGD:621424 "LIG1base: Mutation registry for DNA ligase I deficiency|http://structure.bmc.lu.se/idbase/LIG1base/|LRG_78|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_78.xml" 126391 470604 6.5.1.1 HGNC:6598 "ENST00000263274.12|NM_000234.3" +HGNC:6600 LIG3 DNA ligase 3 protein-coding gene gene with protein product Approved 17q12 17q12 LIG3alpha DNA ligase III LIG2 "ligase II, DNA, ATP-dependent|ligase III, DNA, ATP-dependent" "Zinc fingers PARP-type|DNA ligases" "94|1247" 1991-05-09 2016-04-27 2021-10-19 3980 ENSG00000005156 OTTHUMG00000128519 uc002hik.3 NM_013975 "CCDS11284|CCDS11285" P49916 7760816 MGI:109152 RGD:1309875 600940 HGNC:6600 "ENST00000378526.9|NM_013975.4" +HGNC:6601 LIG4 DNA ligase 4 protein-coding gene gene with protein product Approved 13q33.3 13q33.3 "polydeoxyribonucleotide synthase [ATP] 4|polynucleotide ligase|sealase|DNA repair enzyme|DNA joinase|DNA ligase IV" ligase IV, DNA, ATP-dependent DNA ligases 1247 1995-08-10 2016-04-27 2021-10-19 3981 ENSG00000174405 OTTHUMG00000017328 uc001vqp.4 X83441 NM_002312 "CCDS81779|CCDS9508" P49917 7760816 MGI:1335098 RGD:1304639 "LIG4base: Mutation registry for LIG4 syndrome|http://structure.bmc.lu.se/idbase/LIG4base/|LRG_79|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_79.xml" 601837 123058 6.5.1.1 HGNC:6601 "ENST00000442234.6|NM_206937.2" HGNC:6601 +HGNC:6602 LILRA1 leukocyte immunoglobulin like receptor A1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-6|CD85i|LIR6" leucocyte Ig-like receptor A1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2000-01-11 2016-01-14 2016-10-05 11024 ENSG00000104974 OTTHUMG00000065701 uc002qgh.4 AF025530 NM_006863 "CCDS12901|CCDS62802" O75019 9548455 "MGI:894311|MGI:1195970" 604810 CD85i HGNC:6602 "ENST00000251372.8|NM_006863.4" +HGNC:6603 LILRA2 leukocyte immunoglobulin like receptor A2 protein-coding gene gene with protein product Approved 19q13.4 19q13.4 "LIR-7|ILT1|CD85h|LIR7" leucocyte Ig-like receptor A2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2000-01-11 2016-01-14 2016-01-14 11027 ENSG00000239998 OTTHUMG00000065703 uc002qgf.5 U82275 NM_001130917 "CCDS12900|CCDS46179|CCDS74453" Q8N149 "9079806|9548455" "MGI:894311|MGI:1195970" 604812 I43.951 CD85h HGNC:6603 "ENST00000391738.8|NM_001130917.3" +HGNC:6604 LILRA3 leukocyte immunoglobulin like receptor A3 protein-coding gene gene with protein product Approved 19q13.4 alternate reference locus 19q13.4 alternate reference locus "LIR-4|HM43|ILT6|HM31|LIR4|CD85e" leucocyte Ig-like receptor A3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2000-01-11 2016-01-14 2016-10-24 11026 uc061edb.1 U91926 NM_001172654 Q8N6C8 "9278324|9548455" "MGI:894311|MGI:1195970" 604818 CD85e +HGNC:15503 LILRA4 leukocyte immunoglobulin like receptor A4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ILT7|CD85g" leucocyte Ig-like receptor A4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2005-05-17 2016-01-14 2016-10-05 23547 ENSG00000239961 OTTHUMG00000065355 uc002qfj.4 AF041261 NM_012276 CCDS12890 P59901 10941842 MGI:1195970 607517 objectId:2896 CD85g HGNC:15503 "ENST00000291759.5|NM_012276.5" +HGNC:16309 LILRA5 leukocyte immunoglobulin like receptor A5 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ILT11|LIR9|CD85|CD85f" leucocyte Ig-like receptor A5 LILRB7 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2005-04-14 2005-05-13 2016-01-14 2016-10-05 353514 ENSG00000187116 OTTHUMG00000065357 uc032idp.1 AF212842 NM_181985 "CCDS12889|CCDS12888" A6NI73 10941842 MGI:3647196 RGD:1582781 606047 I43.001 CD85f HGNC:16309 "ENST00000432233.8|NM_021250.4" +HGNC:15495 LILRA6 leukocyte immunoglobulin like receptor A6 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ILT8|CD85b" leucocyte Ig-like receptor A6 LILRB6 "leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6|leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6" "CD molecules|Activating leukocyte immunoglobulin like receptors" "471|1181" 2005-04-14 2005-05-17 2016-01-14 2016-10-05 79168 ENSG00000244482 OTTHUMG00000066635 uc032idf.2 AF041262 NM_024318 CCDS42610 Q6PI73 10941842 RGD:1589833 CD85b HGNC:15495 +HGNC:6605 LILRB1 leukocyte immunoglobulin like receptor B1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-1|ILT2|MIR-7|CD85|LIR1|CD85j|PIRB|PIR-B" "myeloid inhibitory receptor 7|leucocyte Ig-like receptor B1" leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors" "471|1182" 2000-01-11 2016-01-14 2016-10-24 10859 ENSG00000104972 OTTHUMG00000065695 uc032iei.2 AF009220 NM_001081637 "CCDS42616|CCDS42614|CCDS42615|CCDS42617|CCDS62803" Q8NHL6 "9285411|9382880" "MGI:894311|MGI:1195970" 604811 I43.951 objectId:2973 CD85j HGNC:6605 "ENST00000324602.12|NM_001081637.3" +HGNC:53114 LILRB1-AS1 LILRB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 AC009892.10 Antisense RNAs 1987 2017-02-10 2017-02-10 109729136 ENSG00000224730 OTTHUMG00000149999 28103885 +HGNC:6606 LILRB2 leukocyte immunoglobulin like receptor B2 protein-coding gene gene with protein product Approved 19q13.4 19q13.4 "LIR-2|ILT4|MIR-10|LIR2|CD85d|MIR10" "myeloid inhibitory receptor 10|leucocyte Ig-like receptor B2" leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors|Ig-like cell adhesion molecule family" "471|1182|1410" 2000-01-11 2016-01-14 2016-01-14 10288 ENSG00000131042 OTTHUMG00000064896 uc032idl.2 AF000574 NM_001080978 "CCDS12886|CCDS42612|CCDS62791|CCDS62792" Q8N423 "9151699|9079806" "MGI:894311|MGI:1195970" 604815 CD85d HGNC:6606 "ENST00000314446.10|NM_001080978.4" +HGNC:6607 LILRB3 leukocyte immunoglobulin like receptor B3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-3|HL9|ILT5|LIR3|CD85a|PIRB|PIR-B" leucocyte Ig-like receptor B3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors" "471|1182" 2000-01-11 2016-01-14 2016-10-05 11025 ENSG00000204577 OTTHUMG00000066626 uc061coq.1 U91928 NM_006864 "CCDS46175|CCDS33105" O75022 "9278324|9382880" MGI:1195970 RGD:1589827 604820 CD85a HGNC:6607 +HGNC:6608 LILRB4 leukocyte immunoglobulin like receptor B4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "LIR-5|ILT3|HM18|LIR5|CD85k" leucocyte Ig-like receptor B4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors" "471|1182" 2000-01-11 2016-01-14 2016-10-24 11006 ENSG00000186818 OTTHUMG00000065879 uc002qgp.5 U82979 NM_001278426 "CCDS42618|CCDS12902" Q8NHJ6 "9151699|9079806" "MGI:102701|MGI:102702" RGD:1359090 604821 CD85k HGNC:6608 +HGNC:6609 LILRB5 leukocyte immunoglobulin like receptor B5 protein-coding gene gene with protein product Approved 19q13.4 19q13.4 "LIR-8|LIR8|CD85c" leucocyte Ig-like receptor B5 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 "CD molecules|Inhibitory leukocyte immunoglobulin like receptors" "471|1182" 2000-01-11 2016-01-14 2016-01-14 10990 ENSG00000105609 OTTHUMG00000066636 uc002qex.4 AF025534 NM_001081442 "CCDS12885|CCDS42611|CCDS46176" O75023 9548455 "MGI:894311|MGI:1195969|MGI:1195970|MGI:3705216|MGI:3709645" 604814 CD85c HGNC:6609 "ENST00000449561.3|NM_001081442.3" +HGNC:15496 LILRP1 leukocyte immunoglobulin-like receptor pseudogene 1 pseudogene pseudogene Approved 19q13.42 19q13.42 "ILT9|CD85l|LILRA6P" CD molecules 471 2005-05-13 2016-10-05 79167 ENSG00000186152 OTTHUMG00000065881 AF072102 NG_002681 10941842 CD85l HGNC:15496 +HGNC:15497 LILRP2 leukocyte immunoglobulin-like receptor pseudogene 2 pseudogene pseudogene Approved 19q13.42 19q13.42 "ILT10|CD85m" CD molecules 471 2005-05-17 2021-10-07 79166 ENSG00000170858 OTTHUMG00000065886 AF072100 NR_003061 10941842 CD85m HGNC:15497 +HGNC:6610 LIM2 lens intrinsic membrane protein 2 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "MP19|MP17" "lens intrinsic membrane protein 2 (19kD)|lens intrinsic membrane protein 2, 19kDa" 1992-12-04 2015-11-09 2019-08-20 3982 ENSG00000105370 OTTHUMG00000182896 uc002pwm.3 NM_030657 "CCDS59415|CCDS12831" P55344 1606837 MGI:104698 RGD:621482 154045 159976 HGNC:6610 "ENST00000596399.2|NM_001161748.2" HGNC:6610 +HGNC:56004 LIM2-AS1 LIM2 and SIGLEC10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2021-11-25 2021-11-25 105372446 ENSG00000268889 XR_002958397 +HGNC:24636 LIMA1 LIM domain and actin binding 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 EPLIN epithelial protein lost in neoplasm beta "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2006-02-22 2020-01-06 51474 ENSG00000050405 OTTHUMG00000169852 uc001rwj.5 AF198454 NM_016357 "CCDS55826|CCDS8802|CCDS58230|CCDS44877" Q9UHB6 "10806352|10618726|12566430" MGI:1920992 RGD:1564050 608364 HGNC:24636 "ENST00000341247.9|NM_016357.5" +HGNC:29191 LIMCH1 LIM and calponin homology domains 1 protein-coding gene gene with protein product Approved 4p13 04p13 "DKFZP686A01247|LIMCH1A|LMO7B" LIM domain containing 1218 2007-06-14 2008-01-09 2015-08-25 22998 ENSG00000064042 OTTHUMG00000160575 uc003gvu.6 AB029025 NM_014988 "CCDS54764|CCDS33977|CCDS75121|CCDS47047|CCDS54763|CCDS54765|CCDS87222|CCDS82919|CCDS82920|CCDS87221|CCDS75119" Q9UPQ0 10470851 MGI:1924819 RGD:1305269 617750 HGNC:29191 "ENST00000503057.6|NM_001330672.2" +HGNC:6612 LIMD1 LIM domain containing 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 LIM domains containing 1 Ajuba family 1403 1999-01-15 2021-01-05 2021-01-05 8994 ENSG00000144791 OTTHUMG00000133453 uc003coq.4 AJ132408 NM_014240 CCDS2729 Q9UGP4 10647888 MGI:1352502 RGD:1309830 604543 HGNC:6612 "ENST00000273317.5|NM_014240.3" +HGNC:44107 LIMD1-AS1 LIMD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 LIMD1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-28 2012-08-15 2012-10-12 644714 ENSG00000230530 OTTHUMG00000156652 uc062ixr.1 AK026206 NR_033947 LIMD1-AS1 HGNC:44107 +HGNC:28142 LIMD2 LIM domain containing 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 MGC10986 LIM domain containing 1218 2006-01-24 2021-01-05 80774 ENSG00000136490 OTTHUMG00000178907 uc002jbj.5 AK092301 NM_030576 CCDS11641 Q9BT23 24590809 MGI:1915053 RGD:1309967 HGNC:28142 "ENST00000259006.8|NM_030576.4" +HGNC:26016 LIME1 Lck interacting transmembrane adaptor 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ20406|dJ583P15.4|LIME" 2005-04-25 2014-11-18 54923 ENSG00000203896 OTTHUMG00000032999 uc002ygp.5 AK000413 NM_017806 "CCDS82638|CCDS13536" Q9H400 12477932 MGI:1919949 RGD:1562795 609809 HGNC:26016 "ENST00000309546.8|NM_017806.4" +HGNC:6613 LIMK1 LIM domain kinase 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 LIMK "LIM domain containing|PDZ domain containing|LIMK/TESK kinase family" "1218|1220|1617" 1996-03-14 2015-09-03 3984 ENSG00000106683 OTTHUMG00000023448 uc003uaa.3 D26309 NM_002314 "CCDS5563|CCDS56491" P53667 "8673124|8812460" MGI:104572 RGD:62055 601329 123060 objectId:2054 HGNC:6613 "ENST00000336180.7|NM_002314.4" +HGNC:6614 LIMK2 LIM domain kinase 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "LIM domain containing|PDZ domain containing|LIMK/TESK kinase family" "1218|1220|1617" 1997-08-28 2016-10-05 3985 ENSG00000182541 OTTHUMG00000151251 uc003akh.4 D45906 NM_016733 "CCDS33637|CCDS13892|CCDS13891" P53671 "8537403|10591208" MGI:1197517 RGD:62056 601988 objectId:2055 HGNC:6614 "ENST00000331728.9|NM_005569.4" +HGNC:54893 LIMK2P1 LIMK2 pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 2020-04-17 2020-04-17 139952 ENSG00000223418 NG_022582 +HGNC:6616 LIMS1 LIM zinc finger domain containing 1 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "PINCH|PINCH1" "particularly interesting new Cys-His protein 1|senescent cell antigen" "LIM and senescent cell antigen-like domains 1|LIM-type zinc finger domains 1" "LIM zinc finger domain containing|LIM domain containing" "1163|1218" 1998-01-15 2016-02-12 2016-02-12 3987 ENSG00000169756 OTTHUMG00000130983 uc002teh.3 NM_004987 "CCDS2078|CCDS54384|CCDS54385|CCDS54382|CCDS54383" P48059 "7517666|10022929" MGI:1195263 RGD:1560732 602567 HGNC:6616 +HGNC:40342 LIMS1-AS1 LIMS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 Antisense RNAs 1987 2015-03-11 2015-03-11 106182118 ENSG00000228763 OTTHUMG00000153229 AA861200 NR_149074 LIMS1-AS1 HGNC:40342 +HGNC:16084 LIMS2 LIM zinc finger domain containing 2 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "PINCH2|PINCH-2" particularly interesting new Cys-His protein 2 "LIM and senescent cell antigen-like domains 2|LIM-type zinc finger domains 2" LIM zinc finger domain containing 1163 2001-07-26 2016-02-12 2016-10-05 55679 ENSG00000072163 OTTHUMG00000131529 uc002tox.4 AF520987 NM_017980 "CCDS58725|CCDS2147|CCDS54395|CCDS54396|CCDS54394" Q7Z4I7 12167643 MGI:2385067 RGD:1305273 607908 470608 HGNC:16084 "ENST00000355119.9|NM_001161403.3" HGNC:16084 +HGNC:30047 LIMS3 LIM zinc finger domain containing 3 protein-coding gene gene with protein product Approved 2q13 02q13 pinch 2 "LIM and senescent cell antigen-like domains 3|LIM-type zinc finger domains 3" "LIM zinc finger domain containing|LIM domain containing" "1163|1218" 2004-02-13 2016-02-12 2016-10-24 96626 ENSG00000256977 OTTHUMG00000191772 uc284ppv.1 AF288404 NM_033514 CCDS2084 P0CW19 HGNC:30047 "ENST00000480744.3|NM_001394901.1" +HGNC:39941 LIMS4 LIM zinc finger domain containing 4 protein-coding gene gene with protein product Approved 2q13 02q13 LIMS3L "LIM and senescent cell antigen-like domains 3-like|LIM-type zinc finger domains 4" LIM zinc finger domain containing 1163 2011-04-14 2016-01-06 2016-02-12 2016-02-12 100288695 ENSG00000256671 OTTHUMG00000169984 uc284ppx.1 AK298340 NM_001205288 CCDS54387 P0CW20 HGNC:39941 "ENST00000632897.2|NM_001371340.3" +HGNC:17787 LIN7A lin-7 homolog A, crumbs cell polarity complex component protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "MALS-1|TIP-33|LIN-7A|VELI1" mammalian LIN-7 1 lin-7 homolog A (C. elegans) "PDZ domain containing|Crumbs complex|MicroRNA protein coding host genes" "1220|1223|1691" 2002-09-19 2016-02-22 2016-02-22 8825 ENSG00000111052 OTTHUMG00000170168 uc001szi.4 AF028826 NM_001324423 CCDS9021 O14910 "10341223|17237226" MGI:2135609 RGD:621256 603380 HGNC:17787 "ENST00000552864.6|NM_004664.4" +HGNC:17788 LIN7B lin-7 homolog B, crumbs cell polarity complex component protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MALS-2|LIN-7B|VELI2" lin-7 homolog B (C. elegans) "PDZ domain containing|Crumbs complex" "1220|1223" 2002-09-19 2016-02-22 2016-10-05 64130 ENSG00000104863 OTTHUMG00000134288 uc002pmp.3 AF311862 NM_022165 "CCDS12757|CCDS77328" Q9HAP6 10341223 MGI:1330858 RGD:620730 612331 HGNC:17788 "ENST00000221459.7|NM_022165.3" +HGNC:17789 LIN7C lin-7 homolog C, crumbs cell polarity complex component protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "MALS-3|LIN-7C|LIN-7-C|VELI3|FLJ11215" LIN-7 protein 3 lin-7 homolog C (C. elegans) "PDZ domain containing|Crumbs complex" "1220|1223" 2002-09-19 2016-02-22 2020-05-04 55327 ENSG00000148943 OTTHUMG00000166193 uc001mrl.4 AK002077 NM_018362 CCDS7864 Q9NUP9 10341223 MGI:1330839 RGD:621164 612332 HGNC:17789 "ENST00000278193.7|NM_018362.4" +HGNC:30830 LIN9 lin-9 DREAM MuvB core complex component protein-coding gene gene with protein product Approved 1q42.12 01q42.12 TGS "TUDOR gene similar|rb related pathway actor" lin-9 homolog (C. elegans) 2004-11-16 2014-07-17 2016-10-05 286826 ENSG00000183814 OTTHUMG00000037557 uc001hqa.4 AY166858 NM_173083 CCDS1553 Q5TKA1 "15538385|23667535" MGI:1919818 RGD:1591104 609375 HGNC:30830 "ENST00000681046.1|NM_001366245.2" +HGNC:15986 LIN28A lin-28 homolog A protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "LIN-28|FLJ12457|ZCCHC1|CSDD1" LIN28 lin-28 homolog (C. elegans) Zinc fingers CCHC-type 74 2003-07-21 2010-04-06 2016-02-25 2016-10-05 79727 ENSG00000131914 OTTHUMG00000003550 uc001bmj.4 AF521099 NM_024674 CCDS280 Q9H9Z2 12798299 MGI:1890546 RGD:1566408 611043 HGNC:15986 "ENST00000326279.11|NM_024674.6" +HGNC:38055 LIN28AP1 LIN28A pseudogene 1 pseudogene pseudogene Approved 2q32.1 02q32.1 lin-28 homolog A (C. elegans) pseudogene 1 2010-04-06 2013-09-12 2014-11-19 129402 ENSG00000213120 OTTHUMG00000154267 NG_021592 PGOHUM00000241038 HGNC:38055 +HGNC:38056 LIN28AP2 LIN28A pseudogene 2 pseudogene pseudogene Approved 13q31.2 13q31.2 lin-28 homolog A (C. elegans) pseudogene 2 2010-04-06 2013-09-12 2014-11-19 100287388 ENSG00000228473 OTTHUMG00000017164 NG_022998 PGOHUM00000248452 HGNC:38056 +HGNC:38057 LIN28AP3 LIN28A pseudogene 3 pseudogene pseudogene Approved 20p12.2 20p12.2 lin-28 homolog A (C. elegans) pseudogene 3 2010-04-06 2013-09-12 2014-11-19 441940 NG_021975 PGOHUM00000247445 HGNC:38057 +HGNC:32207 LIN28B lin-28 homolog B protein-coding gene gene with protein product Approved 6q16.3-q21 06q16.3-q21 "FLJ16517|CSDD2" lin-28 homolog B (C. elegans) 2005-08-22 2016-02-25 2018-02-13 389421 ENSG00000187772 OTTHUMG00000015290 uc003pqv.2 AK131411 NM_001004317 CCDS34504 Q6ZN17 MGI:3584032 RGD:1597432 611044 315424 HGNC:32207 "ENST00000345080.5|NM_001004317.4" +HGNC:21553 LIN28B-AS1 LIN28B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q16.3 06q16.3 dJ439I14.1 "C6orf220|LINC00577" "chromosome 6 open reading frame 220|long intergenic non-protein coding RNA 577" Antisense RNAs 1987 2007-08-02 2016-02-25 2016-02-25 2016-10-05 100113403 ENSG00000203809 OTTHUMG00000015289 uc031spf.1 "AW612153|BF223582" NR_046407 LIN28B-AS1 HGNC:21553 +HGNC:33234 LIN37 lin-37 DREAM MuvB core complex component protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "ZK418.4|F25965|lin-37" lin-37 homolog (C. elegans) 2007-05-17 2014-07-17 2014-07-17 55957 ENSG00000267796 OTTHUMG00000182070 uc021usw.1 BC008939 NM_019104 CCDS62642 Q96GY3 21498570 MGI:1922910 RGD:1308901 HGNC:33234 "ENST00000301159.14|NM_019104.3" +HGNC:19856 LIN52 lin-52 DREAM MuvB core complex component protein-coding gene gene with protein product Approved 14q24.3 14q24.3 C14orf46 "chromosome 14 open reading frame 46|lin-52 homolog (C. elegans)" 2002-11-27 2007-01-03 2014-07-17 2016-10-05 91750 ENSG00000205659 OTTHUMG00000171204 uc001xpp.3 AK023979 NM_001024674 CCDS32120 Q52LA3 "17075059|21498570" MGI:3045391 RGD:1306798 HGNC:19856 "ENST00000555028.7|NM_001024674.3" +HGNC:25397 LIN54 lin-54 DREAM MuvB core complex component protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "MIP120|DKFZp686L1814|JC8.6|CXCDC1|TCX1" CXC domain containing 1 lin-54 homolog (C. elegans) 2007-01-03 2014-07-17 2016-02-26 132660 ENSG00000189308 OTTHUMG00000130287 uc003hnx.5 BX537919 NM_194282 "CCDS75157|CCDS47089|CCDS3599" Q6MZP7 21498570 MGI:2140902 RGD:1311361 613367 HGNC:25397 "ENST00000340417.8|NM_194282.4" +HGNC:26885 LINC-PINT long intergenic non-protein coding RNA, p53 induced transcript non-coding RNA RNA, long non-coding Approved 7q32.3 07q32.3 "FLJ43663|PINT|LincRNA-Pint|LOC646329" p53 induced noncoding transcript MKLN1-AS1 MKLN1 antisense RNA 1 (head to head) MicroRNA non-coding host genes 1688 2013-07-23 2013-10-07 2013-10-07 2022-03-25 378805 ENSG00000231721 OTTHUMG00000155000 BC130416 NR_015431 A0A455ZAR2 "24070194|24381249" MGI:2673128 618212 pint LINC-PINT HGNC:26885 +HGNC:43773 LINC-ROR long intergenic non-protein coding RNA, regulator of reprogramming non-coding RNA RNA, long non-coding Approved 18q21.31 18q21.31 "lincRNA-RoR|lincRNA-ST8SIA3|ROR" 2012-05-01 2016-12-01 100885779 ENSG00000258609 OTTHUMG00000171587 uc031ril.2 HQ315778 NR_048536 "21057500|23208419|23541921|23597480|24463816" 615173 lincRNA-RoR LINC-ROR HGNC:43773 +HGNC:16224 LINC00028 long intergenic non-protein coding RNA 28 non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 dJ1093G12.6 "C20orf93|NCRNA00028" "chromosome 20 open reading frame 93|non-protein coding RNA 28" Long intergenic non-protein coding RNAs 1986 2001-07-17 2011-08-10 2011-08-10 2012-10-12 140875 ENSG00000233354 OTTHUMG00000032166 uc010ztn.1 AL121751 NR_024358 LINC00028 HGNC:16224 +HGNC:16184 LINC00029 long intergenic non-protein coding RNA 29 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 bA305P22.4 "C20orf51|NCRNA00029" "chromosome 20 open reading frame 51|non-protein coding RNA 29" Long intergenic non-protein coding RNAs 1986 2001-07-17 2011-08-10 2011-08-10 2013-08-16 100144596 ENSG00000125514 OTTHUMG00000032950 uc061ykm.1 "AL117533|BC069708|BC134343" NR_028295 11780052 LINC00029 HGNC:16184 +HGNC:16506 LINC00032 long intergenic non-protein coding RNA 32 non-coding RNA RNA, long non-coding Approved 9p21.2 09p21.2 "C9orf14|NCRNA00032" "chromosome 9 open reading frame 14|non-protein coding RNA 32" Long intergenic non-protein coding RNAs 1986 2001-09-10 2011-08-10 2011-08-10 2018-02-12 158035 ENSG00000283945 OTTHUMG00000019711 uc010mjd.2 AF418573 NR_026679 P0C843 LINC00032 HGNC:16506 +HGNC:32028 LINC00051 long intergenic non-protein coding RNA 51 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 "C8orf43|NCRNA00051" "chromosome 8 open reading frame 43|non-protein coding RNA 51" Long intergenic non-protein coding RNAs 1986 2005-10-04 2011-08-10 2011-08-10 2012-10-12 619434 ENSG00000254008 OTTHUMG00000164636 uc011ljt.2 BC008253 NR_024378 LINC00051 HGNC:32028 +HGNC:26455 LINC00052 long intergenic non-protein coding RNA 52 non-coding RNA RNA, long non-coding Approved 15q25.3 15q25.3 FLJ31461 "TMEM83|NCRNA00052" "transmembrane protein 83|non-protein coding RNA 52" Long intergenic non-protein coding RNAs 1986 2005-10-25 2011-08-10 2011-08-10 2017-10-06 145978 ENSG00000259527 OTTHUMG00000171973 uc002bmc.2 AK056023 NR_026869 Q96N35 "28036286|28733550|28969024" HGNC:26455 +HGNC:31408 LINC00092 long intergenic non-protein coding RNA 92 non-coding RNA RNA, long non-coding Approved 9q22.32 09q22.32 bA346B7.1 NCRNA00092 non-protein coding RNA 92 Long intergenic non-protein coding RNAs 1986 2008-09-03 2011-08-11 2011-08-11 2018-05-18 100188953 ENSG00000225194 OTTHUMG00000020288 uc064unx.1 BC043559 NR_024129 28087599 LINC00092 HGNC:31408 +HGNC:30470 LINC00102 long intergenic non-protein coding RNA 102 non-coding RNA RNA, long non-coding Approved Xp22.33 and Yp11.31 Xp22.33 and Yp11.31 OTTHUMT00000055623 NCRNA00102 non-protein coding RNA 102 "Pseudoautosomal region 1|Long intergenic non-protein coding RNAs" "715|1986" 2008-09-05 2011-08-11 2011-08-11 2012-10-12 100359394 ENSG00000230542 OTTHUMG00000021072 uc033fdg.2 NR_037842 LINC00102 HGNC:30470 +HGNC:31843 LINC00106 long intergenic non-protein coding RNA 106 non-coding RNA RNA, long non-coding Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 OTTHUMG00000021061 "CXYorf8|NCRNA00106" "chromosome X and Y open reading frame 8|non-protein coding RNA 106" "Pseudoautosomal region 1|Long intergenic non-protein coding RNAs" "715|1986" 2006-06-30 2011-08-11 2011-08-11 2021-06-30 751580 ENSG00000236871 OTTHUMG00000021061 uc065cnr.1 NR_130733 HGNC:31843 +HGNC:1262 LINC00111 long intergenic non-protein coding RNA 111 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "C21orf21|NCRNA00111" "chromosome 21 open reading frame 21|non-protein coding RNA 111" Long intergenic non-protein coding RNAs 1986 2000-05-23 2011-08-11 2011-08-11 2012-10-12 54090 ENSG00000227702 OTTHUMG00000086772 uc011aes.2 BX099637 NR_024367 LINC00111 HGNC:1262 +HGNC:1263 LINC00112 long intergenic non-protein coding RNA 112 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "C21orf22|NCRNA00112" "chromosome 21 open reading frame 22|non-protein coding RNA 112" Long intergenic non-protein coding RNAs 1986 2000-05-23 2011-08-11 2011-08-11 2012-10-12 54089 ENSG00000232401 OTTHUMG00000086769 uc002yzm.4 NR_024028 LINC00112 HGNC:1263 +HGNC:1264 LINC00113 long intergenic non-protein coding RNA 113 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 "C21orf23|NCRNA00113" "chromosome 21 open reading frame 23|non-protein coding RNA 113" Long intergenic non-protein coding RNAs 1986 2000-05-23 2011-08-11 2011-08-11 2021-11-18 54088 ENSG00000225298 OTTHUMG00000078708 uc061zix.1 NR_024357 29668625 LINC00113 HGNC:1264 +HGNC:1265 LINC00114 long intergenic non-protein coding RNA 114 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 "C21orf24|NCRNA00114" "chromosome 21 open reading frame 24|non-protein coding RNA 114" Long intergenic non-protein coding RNAs 1986 2000-05-23 2011-08-11 2011-08-11 2014-11-19 400866 ENSG00000223806 OTTHUMG00000090771 uc062aco.1 XR_041645 Q6XXX2 611723 LINC00114 HGNC:1265 +HGNC:26211 LINC00115 long intergenic non-protein coding RNA 115 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 FLJ22639 NCRNA00115 non-protein coding RNA 115 Long intergenic non-protein coding RNAs 1986 2008-09-12 2011-08-11 2011-08-11 2014-11-18 79854 ENSG00000225880 OTTHUMG00000141258 uc010nxx.3 BC017762 XR_017693 12477932 LINC00115 HGNC:26211 +HGNC:1283 LINC00158 long intergenic non-protein coding RNA 158 non-coding RNA RNA, long non-coding Approved 21q21.2 21q21.2 "C21orf42|NCRNA00158" "chromosome 21 open reading frame 42|non-protein coding RNA 158" Long intergenic non-protein coding RNAs 1986 2000-05-23 2011-08-11 2011-08-11 2016-10-05 54072 ENSG00000185433 OTTHUMG00000078368 uc002ylk.3 NR_024027 P58513 LINC00158 HGNC:1283 +HGNC:1285 LINC00159 long intergenic non-protein coding RNA 159 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 "C21orf44|NCRNA00159" "chromosome 21 open reading frame 44|non-protein coding RNA 159" Long intergenic non-protein coding RNAs 1986 2000-05-23 2011-08-11 2011-08-11 2012-10-12 100551499 ENSG00000230323 OTTHUMG00000085307 uc021wij.2 NR_038033 LINC00159 HGNC:1285 +HGNC:1294 LINC00160 long intergenic non-protein coding RNA 160 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 "C21orf52|NCRNA00160" "chromosome 21 open reading frame 52|non-protein coding RNA 160" Long intergenic non-protein coding RNAs 1986 2000-05-23 2011-08-11 2011-08-11 2015-11-05 54064 ENSG00000230978 OTTHUMG00000086234 uc031rvf.2 NR_024351 26426411 LINC00160 HGNC:1294 +HGNC:17138 LINC00161 long intergenic non-protein coding RNA 161 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 "C21orf100|NCRNA00161" "chromosome 21 open reading frame 100|non-protein coding RNA 161" Long intergenic non-protein coding RNAs 1986 2001-11-21 2011-08-11 2011-08-11 2016-10-03 118421 ENSG00000226935 OTTHUMG00000078748 uc002ymn.3 AY063458 NR_026552 "12036297|27609068" LINC00161 HGNC:17138 +HGNC:33165 LINC00163 long intergenic non-protein coding RNA 163 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "NLC1-A|NLC1A" "narcolepsy candidate-region 1 gene A|narcolepsy candidate region gene 1A" "C21orf134|NCRNA00163" "chromosome 21 open reading frame 134|non-protein coding RNA 163" Long intergenic non-protein coding RNAs 1986 2007-08-15 2011-08-11 2011-08-11 2014-11-18 727699 ENSG00000234880 OTTHUMG00000090296 uc021wjz.1 BC036902 NR_033840 16826516 610259 LINC00163 HGNC:33165 +HGNC:33166 LINC00165 long intergenic non-protein coding RNA 165 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 NLC1-B narcolepsy candidate-region 1 gene B "C21orf135|NCRNA00165" "chromosome 21 open reading frame 135|non-protein coding RNA 165" Long intergenic non-protein coding RNAs 1986 2007-08-15 2011-08-11 2011-08-11 2017-10-26 727701 ENSG00000261706 OTTHUMG00000172755 uc062avc.1 BC009635 NR_170266 16826516 +HGNC:33791 LINC00173 long intergenic non-protein coding RNA 173 non-coding RNA RNA, long non-coding Approved 12q24.22 12q24.22 FLJ42957 NCRNA00173 non-protein coding RNA 173 Long intergenic non-protein coding RNAs 1986 2009-03-16 2011-08-11 2011-08-11 2020-04-20 100287569 ENSG00000196668 OTTHUMG00000157726 uc001tvy.3 "AC090670|BC038547|BC121822" NR_027345 Q6ZV60 28803142 LINC00173 HGNC:33791 +HGNC:27788 LINC00174 long intergenic non-protein coding RNA 174 non-coding RNA RNA, long non-coding Approved 7q11.21 07q11.21 NCRNA00174 non-protein coding RNA 174 Long intergenic non-protein coding RNAs 1986 2009-03-18 2013-12-05 2013-12-05 2018-06-14 285908 ENSG00000179406 OTTHUMG00000156590 uc003tux.5 AK091213 NR_026873 29729381 LINC00174 HGNC:27788 +HGNC:37192 LINC00184 long intergenic non-protein coding RNA 184 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 "HANC|lnc-beta-Catm" lncRNA for beta-catenin methylation NCRNA00184 non-protein coding RNA 184 Long intergenic non-protein coding RNAs 1986 2009-08-18 2011-08-11 2011-08-11 2022-01-05 100302691 ENSG00000224939 OTTHUMG00000037979 uc021pkr.1 AJ421679 NR_033927 27239797 LINC00184 HGNC:37192 +HGNC:18461 LINC00189 long intergenic non-protein coding RNA 189 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 "C21orf109|NCRNA00189" "chromosome 21 open reading frame 109|non-protein coding RNA 189" Long intergenic non-protein coding RNAs 1986 2002-07-05 2011-08-11 2011-08-11 2016-10-05 193629 ENSG00000215533 OTTHUMG00000078876 uc061zky.1 AF490769 NR_027072 12036298 LINC00189 HGNC:18461 +HGNC:30974 LINC00200 long intergenic non-protein coding RNA 200 non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 FLJ40354 "C10orf139|NCRNA00200" "chromosome 10 open reading frame 139|non-protein coding RNA 200" Long intergenic non-protein coding RNAs 1986 2007-08-02 2011-08-11 2011-08-11 2014-11-18 399706 ENSG00000229205 OTTHUMG00000017539 uc010qag.1 AK097673 NR_015376 LINC00200 HGNC:30974 +HGNC:16420 LINC00205 long intergenic non-protein coding RNA 205 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 NCRNA00205 non-protein coding RNA 205 Long intergenic non-protein coding RNAs 1986 2001-08-24 2011-08-11 2011-08-11 2020-04-20 642852 ENSG00000223768 OTTHUMG00000090403 uc062avz.1 NR_026943 "12036297|32223925" LINC00205 HGNC:16420 +HGNC:37255 LINC00207 long intergenic non-protein coding RNA 207 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 NCRNA00207 non-protein coding RNA 207 Long intergenic non-protein coding RNAs 1986 2009-10-02 2011-08-11 2011-08-11 2014-11-19 388910 ENSG00000187012 OTTHUMG00000150462 uc011aqg.3 BC144508 NR_028409 LINC00207 HGNC:37255 +HGNC:15535 LINC00208 long intergenic non-protein coding RNA 208 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 "C8orf14|NCRNA00208" "chromosome 8 open reading frame 14|non-protein coding RNA 208" Long intergenic non-protein coding RNAs 1986 2001-04-25 2011-08-11 2011-08-11 2012-10-12 83655 ENSG00000170983 OTTHUMG00000161738 uc022arx.2 AJ291678 NR_040035 Q96KT6 LINC00208 HGNC:15535 +HGNC:37458 LINC00210 long intergenic non-protein coding RNA 210 non-coding RNA RNA, long non-coding Approved 1q41 01q41 RP11-72L13.1 NCRNA00210 non-protein coding RNA 210 Long intergenic non-protein coding RNAs 1986 2009-10-15 2011-08-11 2011-08-11 2019-07-11 100885798 ENSG00000231814 OTTHUMG00000039497 uc031psc.1 NR_048550 "29540185|31240707" LINC00210 HGNC:37458 +HGNC:37459 LINC00211 long intergenic non-protein coding RNA 211 non-coding RNA RNA, long non-coding Approved 2p22.2 02p22.2 NCRNA00211 non-protein coding RNA 211 Long intergenic non-protein coding RNAs 1986 2009-10-16 2011-08-11 2011-08-11 2020-04-20 101929559 ENSG00000237803 OTTHUMG00000152169 uc032njt.2 NR_110011 LINC00211 HGNC:37459 +HGNC:20191 LINC00216 long intergenic non-protein coding RNA 216 non-coding RNA RNA, long non-coding Approved 14q22.3 14q22.3 PRO1617 "C14orf107|NCRNA00216" "chromosome 14 open reading frame 107|non-protein coding RNA 216" Long intergenic non-protein coding RNAs 1986 2002-12-20 2011-08-11 2011-08-11 2012-10-12 55451 OTTHUMG00000187383 uc059bzc.1 AF116641 NR_146595 HGNC:20191 +HGNC:20169 LINC00221 long intergenic non-protein coding RNA 221 non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 "C14orf98|NCRNA00221" "chromosome 14 open reading frame 98|non-protein coding RNA 221" Long intergenic non-protein coding RNAs 1986 2003-01-13 2011-08-11 2011-08-11 2021-04-21 338005 ENSG00000270816 OTTHUMG00000152084 uc059ggn.1 AK058096 NR_027457 33836753 LINC00221 HGNC:20169 +HGNC:21560 LINC00222 long intergenic non-protein coding RNA 222 non-coding RNA RNA, long non-coding Approved 6q21 06q21 dJ354J5.2 "C6orf181|NCRNA00222" "chromosome 6 open reading frame 181|non-protein coding RNA 222" Long intergenic non-protein coding RNAs 1986 2003-11-26 2011-08-11 2011-08-11 2014-11-19 387111 ENSG00000203801 OTTHUMG00000015330 uc003psp.2 AY927445 NR_033376 LINC00222 HGNC:21560 +HGNC:20168 LINC00226 long intergenic non-protein coding RNA 226 non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 "C14orf97|NCRNA00226" "chromosome 14 open reading frame 97|non-protein coding RNA 226" Long intergenic non-protein coding RNAs 1986 2003-01-13 2011-08-11 2011-08-11 2017-03-03 338004 ENSG00000276210 OTTHUMG00000152078 uc032bnj.2 AW205017 NR_033375 28220683 HGNC:20168 +HGNC:13240 LINC00229 long intergenic non-protein coding RNA 229 non-coding RNA RNA, long non-coding Approved 22q13.3 22q13.3 dJ474I12.C22.2 "C22orf10|NCRNA00229" "chromosome 22 open reading frame 10|non-protein coding RNA 229" Long intergenic non-protein coding RNAs 1986 2004-06-07 2011-08-11 2011-08-11 2012-10-12 414351 ENSG00000234300 OTTHUMG00000149974 uc062ezq.1 NR_044991 LINC00229 HGNC:13240 +HGNC:14138 LINC00235 long intergenic non-protein coding RNA 235 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 "C16orf10|NCRNA00235" "chromosome 16 open reading frame 10|non-protein coding RNA 235" Long intergenic non-protein coding RNAs 1986 2000-12-21 2011-08-11 2011-08-11 2017-10-26 64493 ENSG00000277142 OTTHUMG00000186631 uc010uuh.2 AW298011 NR_024121 LINC00235 HGNC:14138 +HGNC:38166 LINC00237 long intergenic non-protein coding RNA 237 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 NCRNA00237 non-protein coding RNA 237 Long intergenic non-protein coding RNAs 1986 2010-06-28 2011-08-11 2011-08-11 2020-04-20 105372556 ENSG00000225127 OTTHUMG00000032017 uc061vtk.1 NR_147212 23034868 614992 linc00237 LINC00237 HGNC:38166 +HGNC:20119 LINC00239 long intergenic non-protein coding RNA 239 non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 "C14orf72|NCRNA00239" "chromosome 14 open reading frame 72|non-protein coding RNA 239" Long intergenic non-protein coding RNAs 1986 2002-12-18 2011-08-11 2011-08-11 2017-03-21 145200 ENSG00000258512 OTTHUMG00000171596 uc059fim.1 NR_026774 LINC00239 HGNC:20119 +HGNC:18772 LINC00240 long intergenic non-protein coding RNA 240 non-coding RNA RNA, long non-coding Approved 6p22.2 06p22.2 bA373D17.1 "C6orf41|NCRNA00240" "chromosome 6 open reading frame 41|non-protein coding RNA 240" Long intergenic non-protein coding RNAs 1986 2003-11-26 2011-08-11 2011-08-11 2016-12-16 100133205 ENSG00000224843 OTTHUMG00000014466 uc063mis.1 NR_026775 27966444 LINC00240 HGNC:18772 +HGNC:21249 LINC00242 long intergenic non-protein coding RNA 242 non-coding RNA RNA, long non-coding Approved 6q27 06q27 "FLJ31451|dJ266L20.5" "C6orf122|NCRNA00242" "chromosome 6 open reading frame 122|non-protein coding RNA 242" Long intergenic non-protein coding RNAs 1986 2003-11-26 2011-08-11 2011-08-11 2021-02-08 401288 ENSG00000229214 OTTHUMG00000016064 uc003qxj.2 AK056013 NR_026781 Q5T6M2 33514309 LINC00242 HGNC:21249 +HGNC:30956 LINC00243 long intergenic non-protein coding RNA 243 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 "bQB230F21.2|FLJ40693|bQB10J12.2" "C6orf214|NCRNA00243" "chromosome 6 open reading frame 214 (putative)|non-protein coding RNA 243" Long intergenic non-protein coding RNAs 1986 2004-01-16 2011-08-11 2011-08-11 2015-08-26 401247 ENSG00000214894 OTTHUMG00000031239 uc003nrp.2 AK098012 NR_130726 LINC00243 HGNC:30956 +HGNC:13245 LINC00244 long intergenic non-protein coding RNA 244 non-coding RNA RNA, long non-coding Approved 7q36 07q36 "C7orf4|NCRNA00244" "chromosome 7 open reading frame 4|non-protein coding RNA 244" Long intergenic non-protein coding RNAs 1986 2001-06-25 2011-08-11 2011-08-11 2020-11-17 64433 ENSG00000279418 OTTHUMG00000189434 uc011kvw.2 AF107456 NR_024119 10329000 LINC00244 HGNC:13245 +HGNC:31950 LINC00251 long intergenic non-protein coding RNA 251 non-coding RNA RNA, long non-coding Approved 8q13.1 08q13.1 "C8orf25|NCRNA00251" "chromosome 8 open reading frame 25|non-protein coding RNA 251" Long intergenic non-protein coding RNAs 1986 2005-04-26 2011-08-11 2011-08-11 2012-10-12 552859 ENSG00000280725 OTTHUMG00000189557 uc022ave.2 BX110670 NR_038901 LINC00251 HGNC:31950 +HGNC:14160 LINC00254 long intergenic non-protein coding RNA 254 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 "C16orf32|NCRNA00254" "chromosome 16 open reading frame 32|non-protein coding RNA 254" Long intergenic non-protein coding RNAs 1986 2000-12-21 2011-08-11 2011-08-11 2018-02-07 64735 ENSG00000281219 OTTHUMG00000189509 uc021tal.1 AI209093 NR_033914 HGNC:14160 +HGNC:28770 LINC00260 long intergenic non-protein coding RNA 260 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 MGC5457 "C1orf217|NCRNA00260" "chromosome 1 open reading frame 217|non-protein coding RNA 260" Long intergenic non-protein coding RNAs 1986 2007-08-02 2011-08-11 2011-08-11 2014-11-18 84719 BC000988 NR_046213 12477932 HGNC:28770 +HGNC:16189 LINC00261 long intergenic non-protein coding RNA 261 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 "bA216C10.1|HCCDR1|TCONS_00027846|ALIEN|DEANR1|onco-lncRNA-17|FALCOR|LCAL62" "hepatocellular carcinoma down-regulated RNA 1|definitive endoderm-associated long non-coding RNA 1|FOXA2-adjacent long noncoding RNA" "C20orf56|NCRNA00261" "chromosome 20 open reading frame 56|non-protein coding RNA 261" Long intergenic non-protein coding RNAs 1986 2001-07-17 2013-07-03 2013-07-03 2022-03-21 140828 ENSG00000259974 OTTHUMG00000046240 uc010zsp.3 NR_001558 "23801869|22681909|25739401|25843708|25959816|30923168" MGI:1918820 618518 LINC00261 HGNC:16189 +HGNC:28019 LINC00265 long intergenic non-protein coding RNA 265 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 NCRNA00265-1 non-protein coding RNA 265-1 NCRNA00265 non-protein coding RNA 265 Long intergenic non-protein coding RNAs 1986 2010-06-07 2011-08-11 2011-08-11 2014-11-18 349114 ENSG00000188185 OTTHUMG00000155273 uc003thf.4 NR_026999 12477932 LINC00265 HGNC:28019 +HGNC:38523 LINC00265-2P long intergenic non-protein coding RNA 265-2, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 "NCRNA00265B|NCRNA00265-2P" "non-protein coding RNA 265B|non-protein coding RNA 265-2, pseudogene" 2010-06-09 2011-08-11 2011-08-11 2014-11-19 100287296 ENSG00000224827 OTTHUMG00000045102 NG_029045 PGOHUM00000263352 HGNC:38523 +HGNC:38536 LINC00265-3P long intergenic non-protein coding RNA 265-3, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 "NCRNA00265C|NCRNA00265-3P" "non-protein coding RNA 265C|non-protein coding RNA 265-3, pseudogene" 2010-06-09 2011-08-11 2011-08-11 2014-11-18 100287470 ENSG00000233944 OTTHUMG00000045202 NG_029048 PGOHUM00000263347 HGNC:38536 +HGNC:37771 LINC00268-2P long intergenic non-protein coding RNA 268-2, pseudogene pseudogene pseudogene Approved Yq11.1 Yq11.1 "NCRNA00268B|NCRNA00268-2P" "non-protein coding RNA 268B|non-protein coding RNA 268-2, pseudogene" 2010-06-09 2011-08-11 2011-08-11 2011-08-11 100288610 NG_029034 HGNC:37771 +HGNC:26586 LINC00269 long intergenic non-protein coding RNA 269 non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 FLJ33610 "CXorf62|NCRNA00269" "chromosome X open reading frame 62|non-protein coding RNA 269" Long intergenic non-protein coding RNAs 1986 2007-08-02 2011-08-11 2011-08-11 2020-04-20 100996279 ENSG00000215162 OTTHUMG00000021754 uc004dxj.2 AK090929 NR_103715 Q8N2A0 LINC00269 HGNC:26586 +HGNC:26898 LINC00272 long intergenic non-protein coding RNA 272 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 RP1-223H12.3 "C1orf120|NCRNA00272" "chromosome 1 open reading frame 120|non-protein coding RNA 272" Long intergenic non-protein coding RNAs 1986 2005-06-21 2011-08-11 2011-08-11 2017-01-20 388719 ENSG00000203729 OTTHUMG00000037402 uc009wxv.2 AF508909 NR_034131 12801632 LINC00272 HGNC:26898 +HGNC:38595 LINC00273 long intergenic non-protein coding RNA 273 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 "TOP|NCRNA00273-1" non-protein coding RNA 273-1 NCRNA00273 non-protein coding RNA 273 Long intergenic non-protein coding RNAs 1986 2010-06-28 2011-08-11 2011-08-11 2014-09-30 649159 ENSG00000256642 OTTHUMG00000176379 uc021thl.2 AY587847 NR_038368 LINC00273 HGNC:38595 +HGNC:38663 LINC00276 long intergenic non-protein coding RNA 276 non-coding RNA RNA, long non-coding Approved 2p24.3 02p24.3 NCRNA00276 non-protein coding RNA 276 Long intergenic non-protein coding RNAs 1986 2010-07-07 2011-08-11 2011-08-11 2014-11-18 100499171 ENSG00000230448 OTTHUMG00000151716 uc061gue.1 BC035112 NR_103814 LINC00276 HGNC:38663 +HGNC:38712 LINC00278 long intergenic non-protein coding RNA 278 non-coding RNA RNA, long non-coding Approved Yp11.31 Yp11.31 YY1BM YY1-blocking micropeptide NCRNA00278 non-protein coding RNA 278 Long intergenic non-protein coding RNAs 1986 2010-07-28 2011-08-11 2011-08-11 2021-02-08 100873962 ENSG00000231535 OTTHUMG00000036157 uc031tkv.2 NR_046502 32169859 LINC00278 HGNC:38712 +HGNC:38724 LINC00279 long intergenic non-protein coding RNA 279 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00279 non-protein coding RNA 279 Long intergenic non-protein coding RNAs 1986 2010-07-28 2011-08-11 2011-08-11 2020-01-22 100873963 ENSG00000286217 OTTHUMG00000041258 uc065cqk.1 NR_138045 LINC00279 HGNC:38724 +HGNC:38803 LINC00280 long intergenic non-protein coding RNA 280 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00280 non-protein coding RNA 280 Long intergenic non-protein coding RNAs 1986 2010-08-05 2011-08-11 2011-08-11 2012-10-12 100873964 ENSG00000229643 OTTHUMG00000040955 uc033fec.1 NR_046505 LINC00280 HGNC:38803 +HGNC:38515 LINC00290 long intergenic non-protein coding RNA 290 non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 NCRNA00290 non-protein coding RNA 290 Long intergenic non-protein coding RNAs 1986 2010-09-13 2011-08-11 2011-08-11 2014-11-19 728081 ENSG00000248197 OTTHUMG00000160706 uc003iuz.4 AF088005 NR_033918 LINC00290 HGNC:38515 +HGNC:39078 LINC00293 long intergenic non-protein coding RNA 293 non-coding RNA RNA, long non-coding Approved 8q11.1 08q11.1 BEYLA NCRNA00293 non-protein coding RNA 293 Long intergenic non-protein coding RNAs 1986 2010-10-05 2011-08-11 2011-08-11 2014-11-18 497634 ENSG00000253314 OTTHUMG00000164130 uc010lxr.2 AK097475 NR_027012 609543 LINC00293 HGNC:39078 +HGNC:27456 LINC00294 long intergenic non-protein coding RNA 294 non-coding RNA RNA, long non-coding Approved 11p13 11p13 NCRNA00294 non-protein coding RNA 294 Long intergenic non-protein coding RNAs 1986 2010-10-05 2011-08-11 2011-08-11 2012-10-12 283267 ENSG00000280798 OTTHUMG00000189548 uc001mug.7 BC046921 NR_015451 612296 LINC00294 HGNC:27456 +HGNC:39210 LINC00297 long intergenic non-protein coding RNA 297 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 NCRNA00297 non-protein coding RNA 297 Long intergenic non-protein coding RNAs 1986 2010-11-23 2011-08-10 2011-08-10 2012-10-12 100874059 ENSG00000224329 OTTHUMG00000147351 uc031qkw.1 NR_046510 LINC00297 HGNC:39210 +HGNC:49257 LINC00298 long intergenic non-protein coding RNA 298 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 Long intergenic non-protein coding RNAs 1986 2013-10-14 2013-10-14 339788 ENSG00000235665 OTTHUMG00000151595 NR_015405 LINC00298 HGNC:49257 +HGNC:27940 LINC00299 long intergenic non-protein coding RNA 299 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 FLJ45673 "C2orf46|NCRNA00299" "chromosome 2 open reading frame 46|non-protein coding RNA 299" Long intergenic non-protein coding RNAs 1986 2006-08-24 2011-08-10 2011-08-10 2016-11-24 339789 ENSG00000236790 OTTHUMG00000112455 uc061glc.1 AK127578 NR_034135 Q6ZSB3 12477932 linc00299 LINC00299 HGNC:27940 +HGNC:28603 LINC00301 long intergenic non-protein coding RNA 301 non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 MGC39681 "C11orf64|NCRNA00301" "chromosome 11 open reading frame 64|non-protein coding RNA 301" Long intergenic non-protein coding RNAs 1986 2006-03-10 2011-08-10 2011-08-10 2014-11-19 283197 ENSG00000181995 OTTHUMG00000141269 uc001npu.4 AK058123 NR_026946 Q8NCQ3 12477932 LINC00301 HGNC:28603 +HGNC:31825 LINC00302 long intergenic non-protein coding RNA 302 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 XP33 "C1orf46|NCRNA00302" "chromosome 1 open reading frame 46|non-protein coding RNA 302" Long intergenic non-protein coding RNAs 1986 2004-09-16 2011-08-10 2011-08-10 2020-10-08 388699 OTTHUMG00000012386 uc057laf.1 AF005082 NR_145430 "9344646|27015450" LINC00302 HGNC:31825 +HGNC:26865 LINC00303 long intergenic non-protein coding RNA 303 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 FLJ40343 "C1orf157|NCRNA00303" "chromosome 1 open reading frame 157|non-protein coding RNA 303" Long intergenic non-protein coding RNAs 1986 2005-07-15 2011-08-10 2011-08-10 2014-11-18 284573 ENSG00000176754 OTTHUMG00000036054 uc010pqo.2 AK097662 NR_027902 Q3SY05 LINC00303 HGNC:26865 +HGNC:26713 LINC00304 long intergenic non-protein coding RNA 304 non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 FLJ36701 "C16orf81|NCRNA00304" "chromosome 16 open reading frame 81|non-protein coding RNA 304" Long intergenic non-protein coding RNAs 1986 2006-08-22 2011-08-10 2011-08-10 2014-11-19 283860 ENSG00000180422 OTTHUMG00000175524 uc002fms.3 AK094020 NR_024347 Q8N9R0 LINC00304 HGNC:26713 +HGNC:28597 LINC00305 long intergenic non-protein coding RNA 305 non-coding RNA RNA, long non-coding Approved 18q22.1 18q22.1 "MGC39571|HsT1235" "C18orf20|NCRNA00305" "chromosome 18 open reading frame 20|non-protein coding RNA 305" Long intergenic non-protein coding RNAs 1986 2004-05-05 2011-08-10 2011-08-10 2017-08-09 221241 ENSG00000179676 OTTHUMG00000060637 uc002ljw.6 BC029565 NR_027245 Q7Z4B0 "28393844|28763747" 617489 LINC00305 HGNC:28597 +HGNC:16727 LINC00307 long intergenic non-protein coding RNA 307 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 D21S2091E NCRNA00307 non-protein coding RNA 307 Long intergenic non-protein coding RNAs 1986 2011-04-14 2011-08-10 2011-08-10 2014-11-18 266919 ENSG00000227342 OTTHUMG00000081871 uc021wif.1 AY063455 NR_038855 12036297 LINC00307 HGNC:16727 +HGNC:16023 LINC00308 long intergenic non-protein coding RNA 308 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 PRED16 "C21orf74|NCRNA00308" "chromosome 21 open reading frame 74|non-protein coding RNA 308" Long intergenic non-protein coding RNAs 1986 2002-11-26 2011-08-10 2011-08-10 2014-11-18 54143 ENSG00000184856 OTTHUMG00000078244 uc021whu.1 AY077696 NR_038400 Q8TCZ7 12036298 LINC00308 HGNC:16023 +HGNC:25279 LINC00309 long intergenic non-protein coding RNA 309 non-coding RNA RNA, long non-coding Approved 2p14 02p14 NCRNA00309 non-protein coding RNA 309 Long intergenic non-protein coding RNAs 1986 2011-04-14 2011-08-10 2011-08-10 2014-11-18 150992 ENSG00000230923 OTTHUMG00000152633 uc021vio.2 NR_033837 LINC00309 HGNC:25279 +HGNC:16414 LINC00310 long intergenic non-protein coding RNA 310 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 "C21orf82|NCRNA00310" "chromosome 21 open reading frame 82|non-protein coding RNA 310" Long intergenic non-protein coding RNAs 1986 2001-08-24 2011-08-10 2011-08-10 2014-11-19 114036 ENSG00000227456 OTTHUMG00000086190 uc002yts.3 AF426258 NR_027266 P59036 12036297 LINC00310 HGNC:16414 +HGNC:28312 LINC00311 long intergenic non-protein coding RNA 311 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 MGC22001 "TMEM148|NCRNA00311" "transmembrane protein 148|non-protein coding RNA 311" Long intergenic non-protein coding RNAs 1986 2006-04-04 2011-08-10 2011-08-10 2019-07-12 197196 ENSG00000179219 OTTHUMG00000137643 uc059xyw.1 BC030801 XR_017879 Q8N616 31170957 LINC00311 HGNC:28312 +HGNC:6662 LINC00312 long intergenic non-protein coding RNA 312 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 "NAG7|NAG-7|ERR10|ERR-10|LMCD1DN" "nasopharyngeal carcinoma candidate 7|estrogen receptor repressor 10|LMCD1 downstream neighbor" "LOH3CR2A|NCRNA00312" "loss of heterozygosity, 3, chromosomal region 2, gene A|non-protein coding RNA 312" Long intergenic non-protein coding RNAs 1986 1999-12-22 2011-08-11 2011-08-11 2017-01-13 29931 AF086709 NR_024065 Q9Y6C7 "12452030|12918109|24168098|23529758" 610485 linc00312 LINC00312 HGNC:6662 +HGNC:16416 LINC00313 long intergenic non-protein coding RNA 313 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "C21orf84|NCRNA00313" "chromosome 21 open reading frame 84|non-protein coding RNA 313" Long intergenic non-protein coding RNAs 1986 2001-08-24 2011-08-10 2011-08-10 2015-07-31 114038 ENSG00000185186 OTTHUMG00000086867 uc002zdh.1 AF426261 NR_026863 P59037 "12036297|26178480" LINC00313 HGNC:16416 +HGNC:16622 LINC00314 long intergenic non-protein coding RNA 314 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 "C21orf94|NCRNA00314" "chromosome 21 open reading frame 94|non-protein coding RNA 314" Long intergenic non-protein coding RNAs 1986 2002-07-05 2011-08-10 2011-08-10 2014-11-18 246705 ENSG00000178457 OTTHUMG00000074158 uc002ymj.4 AF427489 NR_027246 12036297 LINC00314 HGNC:16622 +HGNC:16621 LINC00315 long intergenic non-protein coding RNA 315 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "C21orf93|NCRNA00315" "chromosome 21 open reading frame 93|non-protein coding RNA 315" Long intergenic non-protein coding RNAs 1986 2002-11-26 2011-08-10 2011-08-10 2014-11-18 246704 ENSG00000184274 OTTHUMG00000090409 uc062awa.1 AF427488 NR_046319 P59091 12036297 LINC00315 +HGNC:19723 LINC00316 long intergenic non-protein coding RNA 316 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 PRED59 "C21orf111|NCRNA00316" "chromosome 21 open reading frame 111|non-protein coding RNA 316" Long intergenic non-protein coding RNAs 1986 2003-10-02 2011-08-10 2011-08-10 2014-11-19 388830 ENSG00000237664 OTTHUMG00000090404 uc032qcd.1 BG221750 NR_103811 LINC00316 HGNC:19723 +HGNC:23126 LINC00317 long intergenic non-protein coding RNA 317 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 PRED89 "C21orf117|NCRNA00317" "chromosome 21 open reading frame 117|non-protein coding RNA 317" Long intergenic non-protein coding RNAs 1986 2003-10-01 2011-08-10 2011-08-10 2014-11-19 378828 ENSG00000238265 OTTHUMG00000078123 uc021wht.1 BC009878 NR_038872 LINC00317 HGNC:23126 +HGNC:19730 LINC00319 long intergenic non-protein coding RNA 319 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "PRED49|FLJ38036" "C21orf125|NCRNA00319" "chromosome 21 open reading frame 125|non-protein coding RNA 319" Long intergenic non-protein coding RNAs 1986 2003-10-02 2011-08-11 2011-08-11 2018-07-20 284836 ENSG00000188660 OTTHUMG00000086866 uc062aoa.1 AK095355 NR_026960 "28800794|29408583" LINC00319 HGNC:19730 +HGNC:19690 LINC00320 long intergenic non-protein coding RNA 320 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 "PRED14|FLJ37539" "C21orf131|NCRNA00320" "chromosome 21 open reading frame 131|non-protein coding RNA 320" Long intergenic non-protein coding RNAs 1986 2003-12-15 2011-08-10 2011-08-10 2014-11-19 387486 ENSG00000224924 OTTHUMG00000078063 uc002ykz.6 AK094858 NR_024090 LINC00320 HGNC:19690 +HGNC:33698 LINC00322 long intergenic non-protein coding RNA 322 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 FLJ16545 "C21orf136|NCRNA00322" "chromosome 21 open reading frame 136|non-protein coding RNA 322" Long intergenic non-protein coding RNAs 1986 2007-11-14 2011-08-10 2011-08-10 2014-11-19 100126693 ENSG00000237864 OTTHUMG00000086864 uc032qak.2 AK131425 NR_103713 Q6ZN03 17081983 LINC00322 HGNC:33698 +HGNC:19720 LINC00323 long intergenic non-protein coding RNA 323 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 "PRED42|FLJ37173" "C21orf130|NCRNA00323" "chromosome 21 open reading frame 130|non-protein coding RNA 323" Long intergenic non-protein coding RNAs 1986 2003-12-15 2011-08-11 2011-08-11 2016-10-05 284835 ENSG00000226496 OTTHUMG00000086741 uc002yyv.2 AK094492 NR_024100 LINC00323 HGNC:19720 +HGNC:26628 LINC00324 long intergenic non-protein coding RNA 324 non-coding RNA RNA, long non-coding Approved 17p13.1 17p13.1 "FLJ34790|MGC104931" "C17orf44|NCRNA00324" "chromosome 17 open reading frame 44|non-protein coding RNA 324" Long intergenic non-protein coding RNAs 1986 2005-11-14 2011-08-10 2011-08-10 2019-07-12 284029 ENSG00000178977 OTTHUMG00000132866 uc002gkp.5 AK092109 NR_026951 31225659 LINC00324 HGNC:26628 +HGNC:41926 LINC00326 long intergenic non-protein coding RNA 326 non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 NCRNA00326 non-protein coding RNA 326 Long intergenic non-protein coding RNAs 1986 2011-05-19 2011-08-10 2011-08-10 2022-02-25 285735 ENSG00000231023 OTTHUMG00000015597 uc003qdz.3 NR_026969 35022268 LINC00326 HGNC:41926 +HGNC:42009 LINC00327 long intergenic non-protein coding RNA 327 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 NCRNA00327 non-protein coding RNA 327 Long intergenic non-protein coding RNAs 1986 2011-05-31 2011-08-10 2011-08-10 2014-11-18 100506697 ENSG00000232977 OTTHUMG00000016566 uc001uos.3 NR_038995 LINC00327 HGNC:42009 +HGNC:42028 LINC00328 long intergenic non-protein coding RNA 328 non-coding RNA RNA, long non-coding Approved 21p11.2 21p11.2 NCRNA00328-1 non-protein coding RNA 328-1 "NCRNA00328A|NCRNA00328" "non-protein coding RNA 328A|non-protein coding RNA 328" Long intergenic non-protein coding RNAs 1986 2011-06-01 2011-08-10 2011-08-10 2012-10-12 51152 AF172850 +HGNC:42027 LINC00328-2P long intergenic non-protein coding RNA 328-2, pseudogene pseudogene pseudogene Approved 13q11 13q11 "NCRNA00328B|NCRNA00328-2P" "non-protein coding RNA 328B|non-protein coding RNA 328-2, pseudogene" 2011-06-01 2011-08-10 2011-08-10 2011-08-10 100874404 ENSG00000225016 OTTHUMG00000016468 NG_032649 HGNC:42027 +HGNC:42047 LINC00330 long intergenic non-protein coding RNA 330 non-coding RNA RNA, long non-coding Approved 13q14.12 13q14.12 NCRNA00330 non-protein coding RNA 330 Long intergenic non-protein coding RNAs 1986 2011-06-01 2011-08-10 2011-08-10 2014-11-19 144817 ENSG00000235097 OTTHUMG00000016840 uc021rjc.2 AK056732 NR_038433 LINC00330 HGNC:42047 +HGNC:42048 LINC00331 long intergenic non-protein coding RNA 331 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 NCRNA00331 non-protein coding RNA 331 Long intergenic non-protein coding RNAs 1986 2011-06-01 2011-08-10 2011-08-10 2014-11-18 100874126 ENSG00000225427 OTTHUMG00000017124 uc058xqt.1 NR_046869 LINC00331 HGNC:42048 +HGNC:42049 LINC00332 long intergenic non-protein coding RNA 332 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 NCRNA00332 non-protein coding RNA 332 Long intergenic non-protein coding RNAs 1986 2011-06-01 2011-08-10 2011-08-10 2014-11-19 100874127 ENSG00000230710 OTTHUMG00000016770 uc031qlg.2 NR_046870 LINC00332 HGNC:42049 +HGNC:42050 LINC00333 long intergenic non-protein coding RNA 333 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 NCRNA00333 non-protein coding RNA 333 Long intergenic non-protein coding RNAs 1986 2011-06-01 2011-08-10 2011-08-10 2014-11-18 100874128 ENSG00000233349 OTTHUMG00000017154 uc058xrp.1 NR_046871 LINC00333 HGNC:42050 +HGNC:16425 LINC00334 long intergenic non-protein coding RNA 334 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "C21orf89|NCRNA00334" "chromosome 21 open reading frame 89|non-protein coding RNA 334" Long intergenic non-protein coding RNAs 1986 2001-08-24 2011-08-10 2011-08-10 2014-11-18 114042 ENSG00000182586 OTTHUMG00000084875 uc002zgz.1 AF426268 NR_135279 12036297 LINC00334 HGNC:16425 +HGNC:33813 LINC00336 long intergenic non-protein coding RNA 336 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 FLJ43752 "C6orf227|NCRNA00336" "chromosome 6 open reading frame 227|non-protein coding RNA 336" Long intergenic non-protein coding RNAs 1986 2009-04-02 2011-08-10 2011-08-10 2019-08-08 401253 ENSG00000197251 OTTHUMG00000159733 uc003oew.2 AK125740 NR_027908 Q6ZUF6 30787392 LINC00336 HGNC:33813 +HGNC:25011 LINC00339 long intergenic non-protein coding RNA 339 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 HSPC157 NCRNA00339 non-protein coding RNA 339 Long intergenic non-protein coding RNAs 1986 2011-06-10 2011-08-10 2011-08-10 2018-06-15 29092 ENSG00000218510 OTTHUMG00000002757 uc284mnl.1 NR_109762 "11042152|29706346" LINC00339 HGNC:25011 +HGNC:42470 LINC00342 long intergenic non-protein coding RNA 342 non-coding RNA RNA, long non-coding Approved 2q11.1 02q11.1 NCRNA00342 non-protein coding RNA 342 Long intergenic non-protein coding RNAs 1986 2011-07-29 2011-08-10 2011-08-10 2022-02-22 150759 ENSG00000232931 OTTHUMG00000155186 uc002sux.3 NR_103734 35168108 LINC00342 HGNC:42470 +HGNC:42500 LINC00343 long intergenic non-protein coding RNA 343 non-coding RNA RNA, long non-coding Approved 13q33.2 13q33.2 "NCRNA00343|LINC00344|NCRNA00344" "non-protein coding RNA 343|long intergenic non-protein coding RNA 344|non-protein coding RNA 344" Long intergenic non-protein coding RNAs 1986 2011-08-02 2011-08-10 2011-08-10 2014-11-19 144920 ENSG00000226620 OTTHUMG00000017317 uc058ydt.1 NR_046391 LINC00343 HGNC:42500 +HGNC:42503 LINC00345 long intergenic non-protein coding RNA 345 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 Long intergenic non-protein coding RNAs 1986 2011-08-10 2014-11-18 105370208 ENSG00000235660 OTTHUMG00000016974 uc058xgz.1 XR_001749880 LINC00345 HGNC:42503 +HGNC:27890 LINC00347 long intergenic non-protein coding RNA 347 non-coding RNA RNA, long non-coding Approved 13q22.1 13q22.1 Long intergenic non-protein coding RNAs 1986 2011-08-11 2011-08-11 2014-11-18 338864 ENSG00000236678 OTTHUMG00000017082 uc058xlx.1 NR_034024 12477932 HGNC:27890 +HGNC:42658 LINC00348 long intergenic non-protein coding RNA 348 non-coding RNA RNA, long non-coding Approved 13q21.33 13q21.33 Long intergenic non-protein coding RNAs 1986 2011-08-11 2011-08-11 2014-11-19 100885781 ENSG00000226846 OTTHUMG00000017059 uc031qmd.1 NR_047699 LINC00348 HGNC:42658 +HGNC:42667 LINC00349 long intergenic non-protein coding RNA 349 non-coding RNA RNA, long non-coding Approved 13q11 13q11 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-18 100874135 ENSG00000231238 OTTHUMG00000016451 uc058vrz.1 LINC00349 +HGNC:42668 LINC00350 long intergenic non-protein coding RNA 350 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-18 100874136 ENSG00000225316 OTTHUMG00000016497 uc058vst.1 NR_046988 LINC00350 HGNC:42668 +HGNC:42669 LINC00351 long intergenic non-protein coding RNA 351 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-18 100874137 ENSG00000226317 OTTHUMG00000017156 uc031qmo.2 NR_046989 LINC00351 HGNC:42669 +HGNC:42670 LINC00352 long intergenic non-protein coding RNA 352 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-18 100874138 ENSG00000227893 OTTHUMG00000016567 uc058vxa.1 LINC00352 +HGNC:42671 LINC00353 long intergenic non-protein coding RNA 353 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-18 100874139 ENSG00000236176 OTTHUMG00000017179 uc058xsl.1 NR_046991 LINC00353 HGNC:42671 +HGNC:42672 LINC00354 long intergenic non-protein coding RNA 354 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2011-08-15 2020-04-20 101928616 ENSG00000226903 OTTHUMG00000017361 uc058yis.1 NR_046992 LINC00354 HGNC:42672 +HGNC:27061 LINC00355 long intergenic non-protein coding RNA 355 non-coding RNA RNA, long non-coding Approved 13q21.31 13q21.31 Long intergenic non-protein coding RNAs 1986 2011-08-15 2020-01-10 144766 ENSG00000227674 OTTHUMG00000017028 uc001vii.1 NR_145420 LINC00355 HGNC:27061 +HGNC:42678 LINC00358 long intergenic non-protein coding RNA 358 non-coding RNA RNA, long non-coding Approved 13q21.31 13q21.31 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-19 100874143 ENSG00000229578 OTTHUMG00000017014 uc032ahy.1 NR_046995 LINC00358 HGNC:42678 +HGNC:42679 LINC00359 long intergenic non-protein coding RNA 359 non-coding RNA RNA, long non-coding Approved 13q32.1 13q32.1 Long intergenic non-protein coding RNAs 1986 2011-08-15 2020-01-22 100887754 OTTHUMG00000185759 uc031qmy.2 NR_051966 LINC00359 HGNC:42679 +HGNC:42682 LINC00362 long intergenic non-protein coding RNA 362 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 Long intergenic non-protein coding RNAs 1986 2011-08-15 2014-11-19 100874144 ENSG00000229483 OTTHUMG00000016559 uc058vws.1 XR_007063718 LINC00362 +HGNC:42684 LINC00363 long intergenic non-protein coding RNA 363 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 TCONS_00021586 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-18 104326053 ENSG00000232849 OTTHUMG00000017201 AA885151 NR_126360 LINC00363 HGNC:42684 +HGNC:42686 LINC00364 long intergenic non-protein coding RNA 364 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 LncRNA00364 Long intergenic non-protein coding RNAs 1986 2011-08-16 2017-12-20 100874145 ENSG00000230040 OTTHUMG00000017041 uc058xjx.1 NR_130792 29254221 LINC00364 HGNC:42686 +HGNC:42687 LINC00365 long intergenic non-protein coding RNA 365 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2011-08-16 2017-01-05 100874146 ENSG00000224511 OTTHUMG00000016663 uc058wdd.1 NR_046998 28028307 LINC00365 HGNC:42687 +HGNC:42688 LINC00366 long intergenic non-protein coding RNA 366 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 100874147 ENSG00000229437 OTTHUMG00000016758 uc058wnj.1 NR_046999 LINC00366 HGNC:42688 +HGNC:42689 LINC00367 long intergenic non-protein coding RNA 367 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 TCONS_l2_00007488 Long intergenic non-protein coding RNAs 1986 2013-08-08 2016-11-11 101930748 BG723634 NR_104058 HGNC:42689 +HGNC:42690 LINC00368 long intergenic non-protein coding RNA 368 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2013-08-19 2014-11-18 101927802 ENSG00000225870 OTTHUMG00000017352 BG720241 NR_120415 LINC00368 HGNC:42690 +HGNC:42692 LINC00370 long intergenic non-protein coding RNA 370 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 Long intergenic non-protein coding RNAs 1986 2013-09-16 2014-11-19 105370357 ENSG00000223617 OTTHUMG00000017334 BF695150 NR_170228 LINC00370 HGNC:42692 +HGNC:42695 LINC00373 long intergenic non-protein coding RNA 373 non-coding RNA RNA, long non-coding Approved 13q31.2 13q31.2 Long intergenic non-protein coding RNAs 1986 2018-11-28 2018-11-28 105370306 ENSG00000231019 OTTHUMG00000155300 NR_131919 HGNC:42695 +HGNC:42698 LINC00374 long intergenic non-protein coding RNA 374 non-coding RNA RNA, long non-coding Approved 13q21.1 13q21.1 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-19 106144531 ENSG00000232954 OTTHUMG00000016997 BG190276 NR_132367 LINC00374 HGNC:42698 +HGNC:42699 LINC00375 long intergenic non-protein coding RNA 375 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-18 104355140 ENSG00000226370 OTTHUMG00000017155 AW510855 NR_126383 LINC00375 HGNC:42699 +HGNC:42701 LINC00376 long intergenic non-protein coding RNA 376 non-coding RNA RNA, long non-coding Approved 13q21.31 13q21.31 RP11-527N12.1 Long intergenic non-protein coding RNAs 1986 2013-09-16 2017-09-28 104355293 ENSG00000227564 OTTHUMG00000017020 AA759092 NR_126409 LINC00376 HGNC:42701 +HGNC:42703 LINC00377 long intergenic non-protein coding RNA 377 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 TCONS_00021861 Long intergenic non-protein coding RNAs 1986 2014-01-13 2014-11-19 103724386 ENSG00000229246 OTTHUMG00000017144 BG185523 NR_125770 LINC00377 HGNC:42703 +HGNC:42704 LINC00378 long intergenic non-protein coding RNA 378 non-coding RNA RNA, long non-coding Approved 13q21.2 13q21.2 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 101926930 ENSG00000225249 OTTHUMG00000017008 uc058xiv.1 NR_047003 LINC00378 HGNC:42704 +HGNC:42705 LINC00379 long intergenic non-protein coding RNA 379 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 100874150 ENSG00000229557 OTTHUMG00000017188 uc058xsr.1 NR_047004 LINC00379 HGNC:42705 +HGNC:42706 LINC00380 long intergenic non-protein coding RNA 380 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 TCONS_00021685 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-18 101930747 ENSG00000234625 OTTHUMG00000017187 AA609658 NR_104057 LINC00380 HGNC:42706 +HGNC:42708 LINC00381 long intergenic non-protein coding RNA 381 non-coding RNA RNA, long non-coding Approved 13q22.1 13q22.1 Long intergenic non-protein coding RNAs 1986 2011-08-16 2017-03-22 100874151 ENSG00000226240 OTTHUMG00000017081 uc031qmf.1 NR_047005 HGNC:42708 +HGNC:42709 LINC00382 long intergenic non-protein coding RNA 382 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 TCONS_00021500 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-19 101927195 ENSG00000229175 OTTHUMG00000017139 BG717866 NR_120413 HGNC:42709 +HGNC:42710 LINC00383 long intergenic non-protein coding RNA 383 non-coding RNA RNA, long non-coding Approved 13q21.33 13q21.33 LINC00401 long intergenic non-protein coding RNA 401 Long intergenic non-protein coding RNAs 1986 2013-08-08 2019-04-25 103689913 ENSG00000235221 OTTHUMG00000017052 "BG527271|BM557184" NR_125752 LINC00383 HGNC:42710 +HGNC:42711 LINC00384 long intergenic non-protein coding RNA 384 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2013-09-16 2014-11-19 102157400 ENSG00000232117 OTTHUMG00000055982 BX648491 NR_138041 LINC00384 HGNC:42711 +HGNC:42713 LINC00385 long intergenic non-protein coding RNA 385 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2013-09-16 2014-11-19 105370141 ENSG00000232643 OTTHUMG00000016664 AI203837 XR_002957502 LINC00385 HGNC:42713 +HGNC:42715 LINC00387 long intergenic non-protein coding RNA 387 non-coding RNA RNA, long non-coding Approved 13q11 13q11 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 100874152 ENSG00000231914 OTTHUMG00000016454 uc058vsc.1 LINC00387 +HGNC:42716 LINC00388 long intergenic non-protein coding RNA 388 non-coding RNA RNA, long non-coding Approved 13q11 13q11 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-19 100874153 ENSG00000229788 OTTHUMG00000016452 uc058vsa.1 LINC00388 +HGNC:42718 LINC00390 long intergenic non-protein coding RNA 390 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 TCONS_00021641 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-18 105370183 ENSG00000226519 OTTHUMG00000016828 AW779259 NR_132368 LINC00390 HGNC:42718 +HGNC:42719 LINC00391 long intergenic non-protein coding RNA 391 non-coding RNA RNA, long non-coding Approved 13q32.1 13q32.1 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 101927248 ENSG00000238230 OTTHUMG00000017212 uc058xts.1 NR_120417 LINC00391 +HGNC:42720 LINC00392 long intergenic non-protein coding RNA 392 non-coding RNA RNA, long non-coding Approved 13q22.1 13q22.1 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-19 100874155 ENSG00000228295 OTTHUMG00000017076 uc058xll.1 NR_047009 LINC00392 HGNC:42720 +HGNC:42721 LINC00393 long intergenic non-protein coding RNA 393 non-coding RNA RNA, long non-coding Approved 13q22.1 13q22.1 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 100874156 ENSG00000224853 OTTHUMG00000017077 uc058xlj.1 XR_001749747 LINC00393 HGNC:42721 +HGNC:42723 LINC00395 long intergenic non-protein coding RNA 395 non-coding RNA RNA, long non-coding Approved 13q21.31 13q21.31 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-19 100874157 ENSG00000231061 OTTHUMG00000017022 uc032aid.1 NR_047011 LINC00395 HGNC:42723 +HGNC:42724 LINC00396 long intergenic non-protein coding RNA 396 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2013-08-21 2017-03-22 104355146 ENSG00000231428 OTTHUMG00000017341 AA927226 NR_126387 LINC00396 HGNC:42724 +HGNC:42725 LINC00397 long intergenic non-protein coding RNA 397 non-coding RNA RNA, long non-coding Approved 13q31.2 13q31.2 TCONS_00021582 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-18 101930749 ENSG00000223404 OTTHUMG00000017169 AI286230 NR_104059 LINC00397 HGNC:42725 +HGNC:42727 LINC00398 long intergenic non-protein coding RNA 398 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-19 100874158 ENSG00000237879 OTTHUMG00000016676 uc031qkx.1 NR_047012 LINC00398 HGNC:42727 +HGNC:42728 LINC00399 long intergenic non-protein coding RNA 399 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 TCONS_00021596 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-19 104326054 ENSG00000229792 OTTHUMG00000017337 "BX111569|AI023810" NR_126361 LINC00399 HGNC:42728 +HGNC:42729 LINC00400 long intergenic non-protein coding RNA 400 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 100874159 ENSG00000229928 OTTHUMG00000016815 uc058wrk.1 NR_047013 LINC00400 HGNC:42729 +HGNC:42732 LINC00402 long intergenic non-protein coding RNA 402 non-coding RNA RNA, long non-coding Approved 13q22.1 13q22.1 Long intergenic non-protein coding RNAs 1986 2011-08-16 2022-03-08 100507612 ENSG00000235532 OTTHUMG00000017079 uc001vji.2 NR_144451 33731431 LINC00402 HGNC:42732 +HGNC:42734 LINC00404 long intergenic non-protein coding RNA 404 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2011-08-16 2014-11-18 100874160 ENSG00000229520 OTTHUMG00000017364 uc058yiw.1 LINC00404 +HGNC:42739 LINC00407 long intergenic non-protein coding RNA 407 non-coding RNA RNA, long non-coding Approved 13q14.12 13q14.12 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-18 106144541 ENSG00000237585 OTTHUMG00000016839 BG959100 NR_149082 LINC00407 HGNC:42739 +HGNC:42740 LINC00408 long intergenic non-protein coding RNA 408 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 Long intergenic non-protein coding RNAs 1986 2013-08-08 2016-10-05 100652856 ENSG00000226250 OTTHUMG00000016469 BG722014 NR_104118 LINC00408 HGNC:42740 +HGNC:42742 LINC00410 long intergenic non-protein coding RNA 410 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-18 144776 ENSG00000231674 OTTHUMG00000017185 uc010tid.1 NR_027039 LINC00410 HGNC:42742 +HGNC:42744 LINC00411 long intergenic non-protein coding RNA 411 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-19 100874161 ENSG00000229599 OTTHUMG00000017293 uc058ybi.1 NR_047015 LINC00411 HGNC:42744 +HGNC:42745 LINC00412 long intergenic non-protein coding RNA 412 non-coding RNA RNA, long non-coding Approved 13q12.2 13q12.2 Long intergenic non-protein coding RNAs 1986 2013-08-08 2017-03-22 102723332 ENSG00000234772 OTTHUMG00000016629 AI051530 NR_120429 LINC00412 HGNC:42745 +HGNC:42748 LINC00415 long intergenic non-protein coding RNA 415 non-coding RNA RNA, long non-coding Approved 13q12.13 13q12.13 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-18 107984009 ENSG00000231983 OTTHUMG00000016610 uc058vzg.1 NR_146971 LINC00415 HGNC:42748 +HGNC:42755 LINC00421 long intergenic non-protein coding RNA 421 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-18 100287114 ENSG00000236834 OTTHUMG00000016488 uc021rgw.1 NR_034026 LINC00421 HGNC:42755 +HGNC:42758 LINC00423 long intergenic non-protein coding RNA 423 non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 Long intergenic non-protein coding RNAs 1986 2011-08-18 2019-07-12 100874167 ENSG00000226968 OTTHUMG00000016703 uc058wha.1 NR_047020 31160581 LINC00423 HGNC:42758 +HGNC:42815 LINC00424 long intergenic non-protein coding RNA 424 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 Long intergenic non-protein coding RNAs 1986 2011-08-23 2014-11-18 100874182 ENSG00000226722 OTTHUMG00000016547 uc058vwh.1 NR_047040 LINC00424 HGNC:42815 +HGNC:42761 LINC00426 long intergenic non-protein coding RNA 426 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-19 100188949 ENSG00000238121 OTTHUMG00000016668 uc001usu.3 NR_024464 LINC00426 HGNC:42761 +HGNC:42762 LINC00427 long intergenic non-protein coding RNA 427 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-19 100507040 ENSG00000236463 OTTHUMG00000016667 uc058wdm.1 LINC00427 +HGNC:42763 LINC00428 long intergenic non-protein coding RNA 428 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 Long intergenic non-protein coding RNAs 1986 2013-08-19 2018-05-02 104355147 ENSG00000229546 OTTHUMG00000016811 AA206719 NR_126389 LINC00428 HGNC:42763 +HGNC:42765 LINC00430 long intergenic non-protein coding RNA 430 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 TCONS_00021581 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-18 106144533 ENSG00000233528 OTTHUMG00000017162 AW661815 NR_132371 LINC00430 HGNC:42765 +HGNC:42766 LINC00431 long intergenic non-protein coding RNA 431 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-19 104355135 ENSG00000225760 OTTHUMG00000017351 BG181389 NR_126378 LINC00431 HGNC:42766 +HGNC:42768 LINC00433 long intergenic non-protein coding RNA 433 non-coding RNA RNA, long non-coding Approved 13q31.2 13q31.2 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-19 100874168 ENSG00000229443 OTTHUMG00000017171 uc058xse.1 NR_047021 LINC00433 HGNC:42768 +HGNC:42769 LINC00434 long intergenic non-protein coding RNA 434 non-coding RNA RNA, long non-coding Approved 13q21.2 13q21.2 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-19 100874169 ENSG00000227336 OTTHUMG00000017005 uc058xin.1 NR_047022 LINC00434 HGNC:42769 +HGNC:42772 LINC00437 long intergenic non-protein coding RNA 437 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 TCONS_00021639 Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-11-18 101929121 ENSG00000236354 OTTHUMG00000016756 BM927018 NR_126377 LINC00437 HGNC:42772 +HGNC:42777 LINC00440 long intergenic non-protein coding RNA 440 non-coding RNA RNA, long non-coding Approved 13q31.2 13q31.2 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-18 100874172 ENSG00000234660 OTTHUMG00000017175 uc058xsj.1 NR_047025 LINC00440 HGNC:42777 +HGNC:42779 LINC00442 long intergenic non-protein coding RNA 442 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-18 348021 ENSG00000232685 OTTHUMG00000016475 uc001uma.2 NR_026852 LINC00442 HGNC:42779 +HGNC:42780 LINC00443 long intergenic non-protein coding RNA 443 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-18 100874173 ENSG00000230156 OTTHUMG00000017323 uc031qnf.2 NR_047026 LINC00443 HGNC:42780 +HGNC:42782 LINC00445 long intergenic non-protein coding RNA 445 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-19 100507114 ENSG00000236036 OTTHUMG00000016726 uc058wkh.1 NR_132115 LINC00445 HGNC:42782 +HGNC:42783 LINC00446 long intergenic non-protein coding RNA 446 non-coding RNA RNA, long non-coding Approved 13q22.3 13q22.3 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-18 100874175 ENSG00000229249 OTTHUMG00000017115 uc058xqb.1 NR_047028 LINC00446 HGNC:42783 +HGNC:42785 LINC00448 long intergenic non-protein coding RNA 448 non-coding RNA RNA, long non-coding Approved 13q21.31 13q21.31 Long intergenic non-protein coding RNAs 1986 2011-08-18 2014-11-18 100874176 ENSG00000228669 OTTHUMG00000017019 uc058xjh.1 NR_047029 LINC00448 HGNC:42785 +HGNC:42786 LINC00449 long intergenic non-protein coding RNA 449 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 Long intergenic non-protein coding RNAs 1986 2011-08-18 2017-03-22 106478991 ENSG00000203441 OTTHUMG00000017270 uc058xzp.1 NR_133664 LINC00449 HGNC:42786 +HGNC:42800 LINC00452 long intergenic non-protein coding RNA 452 non-coding RNA RNA, long non-coding Approved 13q34 13q34 LINC00453 long intergenic non-protein coding RNA 453 Long intergenic non-protein coding RNAs 1986 2011-08-22 2021-02-11 643365 ENSG00000229373 OTTHUMG00000017394 uc031qnp.2 NR_164112 HGNC:42800 +HGNC:42802 LINC00454 long intergenic non-protein coding RNA 454 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2011-08-22 2014-11-18 100874178 ENSG00000226921 OTTHUMG00000017392 uc058yop.1 NR_047035 LINC00454 HGNC:42802 +HGNC:42804 LINC00456 long intergenic non-protein coding RNA 456 non-coding RNA RNA, long non-coding Approved 13q32.1 13q32.1 Long intergenic non-protein coding RNAs 1986 2013-08-19 2020-04-20 103625683 ENSG00000233124 OTTHUMG00000017237 BG623605 NR_125725 LINC00456 HGNC:42804 +HGNC:42805 LINC00457 long intergenic non-protein coding RNA 457 non-coding RNA RNA, long non-coding Approved 13q13.2 13q13.2 Long intergenic non-protein coding RNAs 1986 2011-08-22 2014-11-18 100874179 ENSG00000225179 OTTHUMG00000016718 uc058wjw.1 NR_047036 LINC00457 HGNC:42805 +HGNC:42807 LINC00458 long intergenic non-protein coding RNA 458 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 "LncRNA-ES3|ES3" lncRNA embryonic stem cell 3 Long intergenic non-protein coding RNAs 1986 2011-08-22 2019-06-19 100507428 ENSG00000234787 OTTHUMG00000016984 uc058xho.1 BC026300 NR_108062 "22193719|31211468" LINC00458 HGNC:42807 +HGNC:42808 LINC00459 long intergenic non-protein coding RNA 459 non-coding RNA RNA, long non-coding Approved 13q21.31 13q21.31 Long intergenic non-protein coding RNAs 1986 2011-08-22 2014-11-19 100874180 ENSG00000229307 OTTHUMG00000017015 uc058xjg.1 NR_047038 LINC00459 HGNC:42808 +HGNC:42809 LINC00460 long intergenic non-protein coding RNA 460 non-coding RNA RNA, long non-coding Approved 13q33.2 13q33.2 Long intergenic non-protein coding RNAs 1986 2011-08-22 2018-06-20 728192 ENSG00000233532 OTTHUMG00000017319 uc058yea.1 NR_034119 "27591862|29906745" LINC00460 HGNC:42809 +HGNC:42810 LINC00461 long intergenic non-protein coding RNA 461 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 "EyeLinc1|Visc|LOC645323|ECONEXIN|NDIME" "visual cortex expressed|evolutionary conserved and expressed in neural tissues|neural differentiation initiation of MEF2C expression" Long intergenic non-protein coding RNAs 1986 2011-08-18 2022-03-30 645323 ENSG00000245526 OTTHUMG00000162632 uc063ffe.1 NR_024384 "23562822|25209608|25392693|28368417" MGI:2443574 616611 LINC00461 HGNC:42810 +HGNC:42811 LINC00462 long intergenic non-protein coding RNA 462 non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 Long intergenic non-protein coding RNAs 1986 2011-08-22 2017-06-28 100129597 ENSG00000233610 OTTHUMG00000016905 uc058wyx.1 NR_051983 28622593 LINC00462 HGNC:42811 +HGNC:42813 LINC00463 long intergenic non-protein coding RNA 463 non-coding RNA RNA, long non-coding Approved 13q12.13 13q12.13 TCONS_l2_00007499 AMER2-AS1 AMER2 antisense RNA 1 (head to head) Long intergenic non-protein coding RNAs 1986 2013-08-08 2014-06-17 2014-06-17 2014-11-18 101928922 ENSG00000234056 OTTHUMG00000016604 BM666193 NR_120428 LINC00463 HGNC:42813 +HGNC:27294 LINC00466 long intergenic non-protein coding RNA 466 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Long intergenic non-protein coding RNAs 1986 2011-08-25 2019-08-07 199899 ENSG00000224209 OTTHUMG00000009143 uc284mqk.1 NR_038252 31381886 LINC00466 HGNC:27294 +HGNC:28227 LINC00467 long intergenic non-protein coding RNA 467 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 MGC14801 C1orf97 chromosome 1 open reading frame 97 Long intergenic non-protein coding RNAs 1986 2005-05-31 2013-12-05 2013-12-05 2018-07-20 84791 ENSG00000153363 OTTHUMG00000036998 uc001hil.5 BC005997 NR_026761 24586304 linc00467 LINC00467 HGNC:28227 +HGNC:26863 LINC00469 long intergenic non-protein coding RNA 469 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 FLJ40319 C17orf54 chromosome 17 open reading frame 54 Long intergenic non-protein coding RNAs 1986 2005-12-15 2011-08-31 2011-08-31 2017-01-20 283982 ENSG00000177338 OTTHUMG00000167833 uc060jmv.1 AK097638 NR_027146 Q8N7U9 LINC00469 HGNC:26863 +HGNC:1225 LINC00470 long intergenic non-protein coding RNA 470 non-coding RNA RNA, long non-coding Approved 18p11.32 18p11.32 C18orf2 chromosome 18 open reading frame 2 Long intergenic non-protein coding RNAs 1986 2000-08-11 2011-08-31 2011-08-31 2018-06-07 56651 ENSG00000132204 OTTHUMG00000178327 uc002kld.1 AF295730 NR_023925 Q9BZP3 "11173868|29866190" LINC00470 HGNC:1225 +HGNC:28668 LINC00471 long intergenic non-protein coding RNA 471 non-coding RNA RNA, long non-coding Approved 2q37.1 02q37.1 MGC43122 C2orf52 chromosome 2 open reading frame 52 Long intergenic non-protein coding RNAs 1986 2006-11-03 2011-08-31 2011-08-31 2017-01-20 151477 ENSG00000181798 OTTHUMG00000133227 uc002vrx.2 BC033054 NR_024079 Q8N535 12477932 LINC00471 HGNC:28668 +HGNC:21380 LINC00472 long intergenic non-protein coding RNA 472 non-coding RNA RNA, long non-coding Approved 6q13 06q13 "dJ288M22.3|FLJ13189|P53RRA" p53 related lncRNA C6orf155 chromosome 6 open reading frame 155 Long intergenic non-protein coding RNAs 1986 2003-06-11 2011-08-31 2011-08-31 2018-06-20 79940 ENSG00000233237 OTTHUMG00000015006 uc063pmi.1 NR_121612 Q9H8W2 "25865225|27667152|28874676" LINC00472 HGNC:21380 +HGNC:21160 LINC00473 long intergenic non-protein coding RNA 473 non-coding RNA RNA, long non-coding Approved 6q27 06q27 "bA142J11.1|LNC473" C6orf176 chromosome 6 open reading frame 176 Long intergenic non-protein coding RNAs 1986 2003-11-25 2011-08-31 2011-08-31 2020-01-22 90632 OTTHUMG00000015990 uc063sul.1 BC008632 NR_026860 A8K010 "22108211|28052243|26947914" LINC00473 HGNC:21160 +HGNC:23367 LINC00474 long intergenic non-protein coding RNA 474 non-coding RNA RNA, long non-coding Approved 9q33.1 09q33.1 EST-YD1 C9orf27 chromosome 9 open reading frame 27 Long intergenic non-protein coding RNAs 1986 2003-11-14 2011-08-31 2011-08-31 2017-01-20 58483 ENSG00000204148 OTTHUMG00000020551 uc004bjm.4 AB021923 NR_024032 Q9P2X8 LINC00474 HGNC:23367 +HGNC:23569 LINC00475 long intergenic non-protein coding RNA 475 non-coding RNA RNA, long non-coding Approved 9q22.31 09q22.31 C9orf44 chromosome 9 open reading frame 44 Long intergenic non-protein coding RNAs 1986 2003-11-25 2011-08-31 2011-08-31 2012-10-12 158314 ENSG00000225511 OTTHUMG00000020216 uc004arp.2 AK023662 NR_027341 LINC00475 HGNC:23569 +HGNC:26557 LINC00477 long intergenic non-protein coding RNA 477 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 "FLJ32894|FAM191B" family with sequence similarity 191, member B C12orf67 chromosome 12 open reading frame 67 Long intergenic non-protein coding RNAs 1986 2008-07-11 2011-08-31 2011-08-31 2019-06-19 144360 ENSG00000197503 OTTHUMG00000159485 uc001rgb.1 AK057456 NR_029451 Q96M19 31191018 LINC00477 HGNC:26557 +HGNC:19727 LINC00479 long intergenic non-protein coding RNA 479 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "PRED76|FLJ32835" C21orf129 chromosome 21 open reading frame 129 Long intergenic non-protein coding RNAs 1986 2003-12-15 2011-08-31 2011-08-31 2014-11-19 150135 ENSG00000236384 OTTHUMG00000086773 uc011aet.1 AK057397 NR_027272 Q96M42 LINC00479 HGNC:19727 +HGNC:26816 LINC00482 long intergenic non-protein coding RNA 482 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 FLJ39421 C17orf55 chromosome 17 open reading frame 55 Long intergenic non-protein coding RNAs 1986 2005-12-15 2011-09-01 2011-09-01 2017-01-20 284185 ENSG00000185168 OTTHUMG00000177904 uc060lim.1 AK096740 NR_038080 Q8N8I6 LINC00482 HGNC:26816 +HGNC:27862 LINC00484 long intergenic non-protein coding RNA 484 non-coding RNA RNA, long non-coding Approved 9q22.2 09q22.2 C9orf73 chromosome 9 open reading frame 73 Long intergenic non-protein coding RNAs 1986 2004-01-06 2011-09-06 2011-09-06 2020-04-20 100129347 ENSG00000235641 OTTHUMG00000020203 uc004are.2 AK095132 NR_135306 LINC00484 HGNC:27862 +HGNC:27476 LINC00485 long intergenic non-protein coding RNA 485 non-coding RNA RNA, long non-coding Approved 12q23.2 12q23.2 Long intergenic non-protein coding RNAs 1986 2011-09-08 2012-10-12 283432 ENSG00000258169 OTTHUMG00000169965 uc021rct.2 BC037211 NR_033855 LINC00485 HGNC:27476 +HGNC:42946 LINC00486 long intergenic non-protein coding RNA 486 non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 Long intergenic non-protein coding RNAs 1986 2011-09-08 2012-10-12 285045 ENSG00000230876 OTTHUMG00000152136 uc061hyt.1 NR_027099 LINC00486 HGNC:42946 +HGNC:42947 LINC00487 long intergenic non-protein coding RNA 487 non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 FLJ42418 Long intergenic non-protein coding RNAs 1986 2011-09-08 2012-10-12 400941 ENSG00000205837 OTTHUMG00000151630 uc002qym.2 NR_038369 LINC00487 HGNC:42947 +HGNC:32675 LINC00488 long intergenic non-protein coding RNA 488 non-coding RNA RNA, long non-coding Approved 3q13.13 03q13.13 FLJ41232 C3orf66 chromosome 3 open reading frame 66 Long intergenic non-protein coding RNAs 1986 2006-03-30 2011-09-14 2011-09-14 2012-10-12 677779 ENSG00000214381 OTTHUMG00000159206 uc003dxn.6 AK123226 NR_026767 LINC00488 HGNC:32675 +HGNC:43426 LINC00489 long intergenic non-protein coding RNA 489 non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 Long intergenic non-protein coding RNAs 1986 2011-10-20 2017-06-21 100861522 ENSG00000225759 OTTHUMG00000046198 uc031rte.1 DB341379 NR_047461 LINC00489 HGNC:43426 +HGNC:43428 LINC00491 long intergenic non-protein coding RNA 491 non-coding RNA RNA, long non-coding Approved 5q21.1 05q21.1 BC008363 Long intergenic non-protein coding RNAs 1986 2011-10-20 2021-03-04 285708 ENSG00000250682 OTTHUMG00000162775 uc032vev.2 CN270888 NR_103753 "25200694|33537830" LINC00491 HGNC:43428 +HGNC:43429 LINC00492 long intergenic non-protein coding RNA 492 non-coding RNA RNA, long non-coding Approved 5q21.1 05q21.1 Long intergenic non-protein coding RNAs 1986 2011-10-20 2012-10-12 100861468 ENSG00000250958 OTTHUMG00000162776 uc032veu.2 CA314239 NR_047462 LINC00492 HGNC:43429 +HGNC:27657 LINC00494 long intergenic non-protein coding RNA 494 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Long intergenic non-protein coding RNAs 1986 2011-10-28 2014-11-18 284749 ENSG00000235621 OTTHUMG00000032682 uc002xtt.3 NR_026958 12477932 LINC00494 HGNC:27657 +HGNC:43435 LINC00498 long intergenic non-protein coding RNA 498 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2011-10-28 2012-10-12 105377446 ENSG00000248397 OTTHUMG00000161288 uc062zqr.1 LINC00498 HGNC:43435 +HGNC:43436 LINC00499 long intergenic non-protein coding RNA 499 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2011-10-28 2012-10-12 100874047 ENSG00000251372 OTTHUMG00000161286 uc031sha.2 NR_051987 LINC00499 HGNC:43436 +HGNC:43437 LINC00500 long intergenic non-protein coding RNA 500 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2011-10-28 2012-10-12 106480440 ENSG00000249381 OTTHUMG00000161287 uc062zqw.1 XR_007058272 LINC00500 +HGNC:43439 LINC00501 long intergenic non-protein coding RNA 501 non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 Long intergenic non-protein coding RNAs 1986 2011-10-28 2012-10-12 100820709 ENSG00000203645 OTTHUMG00000157234 uc032skk.2 AK055528 NR_047465 LINC00501 HGNC:43439 +HGNC:43442 LINC00502 long intergenic non-protein coding RNA 502 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 Long intergenic non-protein coding RNAs 1986 2011-10-28 2012-10-12 100874184 ENSG00000224851 OTTHUMG00000018738 uc057uvm.1 NR_047467 LINC00502 HGNC:43442 +HGNC:43555 LINC00504 long intergenic non-protein coding RNA 504 non-coding RNA RNA, long non-coding Approved 4p15.33 04p15.33 Long intergenic non-protein coding RNAs 1986 2011-11-07 2012-10-12 201853 ENSG00000248360 OTTHUMG00000160121 uc003gne.4 NR_126435 LINC00504 HGNC:43555 +HGNC:43557 LINC00506 long intergenic non-protein coding RNA 506 non-coding RNA RNA, long non-coding Approved 3p12.1 03p12.1 Long intergenic non-protein coding RNAs 1986 2011-11-07 2012-10-12 100846978 OTTHUMG00000189538 uc032rtd.2 BC030609 NR_047469 HGNC:43557 +HGNC:43558 LINC00507 long intergenic non-protein coding RNA 507 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2011-11-07 2020-09-10 100862680 ENSG00000256193 OTTHUMG00000168425 uc058vbt.1 NR_046392 32891070 LINC00507 HGNC:43558 +HGNC:43559 LINC00508 long intergenic non-protein coding RNA 508 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2011-11-07 2012-10-12 104472718 ENSG00000256971 OTTHUMG00000168426 uc058vbu.1 NR_126452 LINC00508 HGNC:43559 +HGNC:43564 LINC00511 long intergenic non-protein coding RNA 511 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 onco-lncRNA-12 Long intergenic non-protein coding RNAs 1986 2011-11-07 2016-12-07 400619 ENSG00000227036 OTTHUMG00000132227 uc060jkf.1 AK129994 NR_033876 "25864709|27845772" HGNC:43564 +HGNC:43566 LINC00513 long intergenic non-protein coding RNA 513 non-coding RNA RNA, long non-coding Approved 7q32.3 07q32.3 AC016831.7 Long intergenic non-protein coding RNAs 1986 2016-12-21 2016-12-21 100506860 ENSG00000233559 OTTHUMG00000155022 NR_109780 27980086 HGNC:43566 +HGNC:16019 LINC00515 long intergenic non-protein coding RNA 515 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 PRED21 C21orf71 chromosome 21 open reading frame 71 Long intergenic non-protein coding RNAs 1986 2002-11-26 2011-11-23 2011-11-23 2019-07-12 282566 AF086441 NR_024092 31140829 HGNC:16019 +HGNC:19831 LINC00517 long intergenic non-protein coding RNA 517 non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 C14orf26 chromosome 14 open reading frame 26 Long intergenic non-protein coding RNAs 1986 2003-01-13 2011-12-07 2011-12-07 2012-10-12 400208 ENSG00000259091 OTTHUMG00000170594 uc001wuk.3 AA029430 NR_135286 LINC00517 HGNC:19831 +HGNC:28626 LINC00518 long intergenic non-protein coding RNA 518 non-coding RNA RNA, long non-coding Approved 6p24.3 06p24.3 MGC40222 C6orf218 chromosome 6 open reading frame 218 Long intergenic non-protein coding RNAs 1986 2006-04-04 2011-11-25 2011-11-25 2022-01-10 221718 ENSG00000183674 OTTHUMG00000159175 uc063ltt.1 BC028118 NR_027793 Q8N0U6 24906614 LINC00518 HGNC:28626 +HGNC:19838 LINC00519 long intergenic non-protein coding RNA 519 non-coding RNA RNA, long non-coding Approved 14q22.1 14q22.1 C14orf30 chromosome 14 open reading frame 30 Long intergenic non-protein coding RNAs 1986 2002-11-27 2011-11-29 2011-11-29 2012-10-12 161342 ENSG00000258955 OTTHUMG00000171090 uc059blq.1 BG121773 NR_145423 LINC00519 HGNC:19838 +HGNC:19843 LINC00520 long intergenic non-protein coding RNA 520 non-coding RNA RNA, long non-coding Approved 14q22.3 14q22.3 LASSIE lncRNA activated by shear stress in the endothelium C14orf34 chromosome 14 open reading frame 34 Long intergenic non-protein coding RNAs 1986 2002-11-27 2011-11-29 2011-11-29 2020-06-12 645687 ENSG00000258791 OTTHUMG00000171059 uc059buh.1 BF572611 NR_026796 "27626181|32457386" LINC00520 HGNC:19843 +HGNC:20117 LINC00523 long intergenic non-protein coding RNA 523 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 C14orf70 chromosome 14 open reading frame 70 Long intergenic non-protein coding RNAs 1986 2003-01-13 2011-11-30 2011-11-30 2012-10-12 283601 ENSG00000196273 OTTHUMG00000171592 uc059ffm.1 NR_024096 Q86TU6 LINC00523 HGNC:20117 +HGNC:20118 LINC00524 long intergenic non-protein coding RNA 524 non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 C14orf71 chromosome 14 open reading frame 71 Long intergenic non-protein coding RNAs 1986 2003-01-13 2011-11-30 2011-11-30 2012-10-12 338002 ENSG00000259023 OTTHUMG00000171679 uc059fhz.1 AA843471 NR_126006 LINC00524 HGNC:20118 +HGNC:40290 LINC00525 long intergenic non-protein coding RNA 525 non-coding RNA RNA, long non-coding Approved 7p12.3 07p12.3 Long intergenic non-protein coding RNAs 1986 2011-12-05 2021-01-07 84847 ENSG00000146666 OTTHUMG00000155644 uc003tnx.3 BC007354 NR_038407 "31991382|33370431" LINC00525 HGNC:40290 +HGNC:28278 LINC00526 long intergenic non-protein coding RNA 526 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 "MGC17515|HsT959" C18orf18 chromosome 18 open reading frame 18 Long intergenic non-protein coding RNAs 1986 2004-05-05 2011-12-07 2011-12-07 2019-07-11 147525 ENSG00000264575 OTTHUMG00000178804 uc010wzd.3 BC010538 NR_026849 Q96FQ7 31240814 LINC00526 HGNC:28278 +HGNC:26875 LINC00528 long intergenic non-protein coding RNA 528 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 FLJ40542 C22orf37 chromosome 22 open reading frame 37 Long intergenic non-protein coding RNAs 1986 2006-10-17 2011-12-07 2011-12-07 2016-11-07 200298 ENSG00000269220 OTTHUMG00000186097 uc062bhn.1 AK097861 NR_103718 Q8N1L1 14702039 HGNC:26875 +HGNC:15544 LINC00529 long intergenic non-protein coding RNA 529 non-coding RNA RNA, long non-coding Approved 8p23-p22 08p23-p22 C8orf8 chromosome 8 open reading frame 8 Long intergenic non-protein coding RNAs 1986 2001-04-25 2011-12-08 2011-12-08 2012-10-12 83647 ENSG00000236827 OTTHUMG00000165427 uc064kfp.1 AJ301561 NR_170283 11896452 LINC00529 +HGNC:18690 LINC00533 long intergenic non-protein coding RNA 533 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 "bA373N24.1|C6orf39" C6orf38 chromosome 6 open reading frame 38 Long intergenic non-protein coding RNAs 1986 2003-11-26 2011-12-13 2011-12-13 2016-10-05 387055 ENSG00000235570 OTTHUMG00000016245 uc063mlx.1 "AA913908|AI688709" NR_135285 LINC00533 HGNC:18690 +HGNC:43643 LINC00534 long intergenic non-protein coding RNA 534 non-coding RNA RNA, long non-coding Approved 8q21.3 08q21.3 Long intergenic non-protein coding RNAs 1986 2011-12-13 2012-10-12 100874052 ENSG00000253394 OTTHUMG00000163968 uc031tbq.2 NR_051989 LINC00534 HGNC:43643 +HGNC:43645 LINC00536 long intergenic non-protein coding RNA 536 non-coding RNA RNA, long non-coding Approved 8q23.3 08q23.3 Long intergenic non-protein coding RNAs 1986 2011-12-13 2012-10-12 100859921 ENSG00000249917 OTTHUMG00000164936 uc031tcc.1 BC040336 NR_046215 LINC00536 HGNC:43645 +HGNC:43654 LINC00537 long intergenic non-protein coding RNA 537 non-coding RNA RNA, long non-coding Approved 9q13 09q13 Long intergenic non-protein coding RNAs 1986 2012-01-16 2012-10-12 203274 BC110369 NR_146625 HGNC:43654 +HGNC:43655 LINC00538 long intergenic non-protein coding RNA 538 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 "Yiya|PROX1UT" PROX1 upstream transcript Long intergenic non-protein coding RNAs 1986 2012-01-23 2018-07-04 100861504 ENSG00000281664 OTTHUMG00000189733 uc057pjj.1 JF495099 NR_046189 "22258142|29967256" 614635 linc00538 LINC00538 HGNC:43655 +HGNC:43672 LINC00539 long intergenic non-protein coding RNA 539 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 LINC00422 long intergenic non-protein coding RNA 422 Long intergenic non-protein coding RNAs 1986 2012-01-30 2015-01-29 100652865 ENSG00000224429 OTTHUMG00000016541 uc058vvj.1 BG940872 NR_103840 LINC00539 HGNC:43672 +HGNC:43673 LINC00540 long intergenic non-protein coding RNA 540 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 Long intergenic non-protein coding RNAs 1986 2012-01-30 2012-10-12 100506622 OTTHUMG00000187111 uc001uoi.4 "AK054845|BC035104" NR_103810 HGNC:43673 +HGNC:43678 LINC00543 long intergenic non-protein coding RNA 543 non-coding RNA RNA, long non-coding Approved 13q12.2 13q12.2 Long intergenic non-protein coding RNAs 1986 2012-01-30 2016-11-11 100132234 ENSG00000260704 OTTHUMG00000170880 uc058wbx.1 "CB142335|AI262987" NR_135254 HGNC:43678 +HGNC:43679 LINC00544 long intergenic non-protein coding RNA 544 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2012-09-12 2014-09-30 440131 ENSG00000122043 OTTHUMG00000016659 uc010aav.4 NR_033889 LINC00544 HGNC:43679 +HGNC:43680 LINC00545 long intergenic non-protein coding RNA 545 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2012-01-30 2012-10-12 440132 ENSG00000236094 OTTHUMG00000016678 uc032aax.2 "AW971998|AA514237" NR_103813 LINC00545 HGNC:43680 +HGNC:43682 LINC00547 long intergenic non-protein coding RNA 547 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 FLJ34747 Long intergenic non-protein coding RNAs 1986 2012-01-30 2012-10-12 400121 ENSG00000275226 OTTHUMG00000187339 uc001uwn.1 AK092066 NR_040244 LINC00547 HGNC:43682 +HGNC:43683 LINC00548 long intergenic non-protein coding RNA 548 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 FLJ42392 Long intergenic non-protein coding RNAs 1986 2012-01-30 2012-10-12 400123 uc021rim.1 AK124383 NR_033877 HGNC:43683 +HGNC:43688 LINC00550 long intergenic non-protein coding RNA 550 non-coding RNA RNA, long non-coding Approved 13q21.33 13q21.33 Long intergenic non-protein coding RNAs 1986 2012-01-30 2017-03-22 338862 ENSG00000281778 OTTHUMG00000189544 uc001vio.4 BC042673 NR_038878 LINC00550 HGNC:43688 +HGNC:43691 LINC00551 long intergenic non-protein coding RNA 551 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 Long intergenic non-protein coding RNAs 1986 2012-01-30 2016-11-11 283483 ENSG00000272274 OTTHUMG00000185758 uc031qne.2 AK098538 NR_051977 HGNC:43691 +HGNC:43692 LINC00552 long intergenic non-protein coding RNA 552 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2012-01-30 2015-01-29 100130386 ENSG00000279770 OTTHUMG00000186842 uc010tkg.2 AK057435 NR_028064 LINC00552 HGNC:43692 +HGNC:43697 LINC00554 long intergenic non-protein coding RNA 554 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 lncZic2 Long intergenic non-protein coding RNAs 1986 2012-01-31 2018-06-20 100861542 ENSG00000260738 OTTHUMG00000176067 uc032ank.2 BC068276 NR_047483 29588366 HGNC:43697 +HGNC:43699 LINC00555 long intergenic non-protein coding RNA 555 non-coding RNA RNA, long non-coding Approved 13q33.1 13q33.1 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-09 100861543 ENSG00000261057 OTTHUMG00000176068 uc058ybx.1 AF339825 +HGNC:43700 LINC00556 long intergenic non-protein coding RNA 556 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-11 100861551 ENSG00000260131 OTTHUMG00000175961 uc058vtx.1 AF086361 +HGNC:43701 LINC00557 long intergenic non-protein coding RNA 557 non-coding RNA RNA, long non-coding Approved 13q32.1 13q32.1 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-11 100861544 ENSG00000260962 OTTHUMG00000176061 uc058xtt.1 AF339811 NR_047487 HGNC:43701 +HGNC:43702 LINC00558 long intergenic non-protein coding RNA 558 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 Long intergenic non-protein coding RNAs 1986 2012-01-31 2014-05-09 100861552 ENSG00000261517 OTTHUMG00000176029 uc031qlu.1 BC041877 NR_047488 LINC00558 HGNC:43702 +HGNC:43703 LINC00559 long intergenic non-protein coding RNA 559 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-09 100874187 ENSG00000261446 OTTHUMG00000176057 uc031qmr.3 BC043442 NR_047489 HGNC:43703 +HGNC:43704 LINC00560 long intergenic non-protein coding RNA 560 non-coding RNA RNA, long non-coding Approved 13q31.2 13q31.2 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-11 100861553 ENSG00000261666 OTTHUMG00000176053 uc058xsg.1 BC043278 NR_047490 HGNC:43704 +HGNC:43705 LINC00561 long intergenic non-protein coding RNA 561 non-coding RNA RNA, long non-coding Approved 13q22.2 13q22.2 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-11 100861545 ENSG00000261206 OTTHUMG00000176038 uc058xnw.1 BC034981 NR_047491 HGNC:43705 +HGNC:43706 LINC00562 long intergenic non-protein coding RNA 562 non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-11 100861549 ENSG00000260388 OTTHUMG00000175994 uc058wxo.1 AK123146 NR_047492 HGNC:43706 +HGNC:43707 LINC00563 long intergenic non-protein coding RNA 563 non-coding RNA RNA, long non-coding Approved 13q14.13 13q14.13 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-09 100861554 ENSG00000261097 OTTHUMG00000175991 uc031qll.1 U79295 NR_047493 HGNC:43707 +HGNC:43708 LINC00564 long intergenic non-protein coding RNA 564 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-11 100861546 ENSG00000260094 OTTHUMG00000176051 uc058xrm.1 BC039360 NR_047494 HGNC:43708 +HGNC:43710 LINC00566 long intergenic non-protein coding RNA 566 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-11 100861547 ENSG00000261498 OTTHUMG00000175964 uc001upk.4 BC038727 NR_131903 HGNC:43710 +HGNC:43711 LINC00567 long intergenic non-protein coding RNA 567 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2012-01-31 2016-11-11 283486 ENSG00000259831 OTTHUMG00000176071 uc058yhl.1 BC035264 NR_135280 HGNC:43711 +HGNC:43717 LINC00570 long intergenic non-protein coding RNA 570 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 ncRNA-a5 Long intergenic non-protein coding RNAs 1986 2012-02-02 2014-10-22 100874055 ENSG00000224177 OTTHUMG00000151818 uc031rnr.1 "BX102688|AI493106" NR_047499 20887892 LINC00570 LINC00570 HGNC:43717 +HGNC:43721 LINC00571 long intergenic non-protein coding RNA 571 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 Long intergenic non-protein coding RNAs 1986 2012-02-06 2012-10-12 100874188 ENSG00000223685 OTTHUMG00000016755 uc031qle.1 "BM023585|BF887755" NR_047500 LINC00571 HGNC:43721 +HGNC:43722 LINC00572 long intergenic non-protein coding RNA 572 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2012-02-06 2012-10-12 100861573 ENSG00000224405 OTTHUMG00000016662 uc032aap.1 BC039674 NR_047501 LINC00572 HGNC:43722 +HGNC:21598 LINC00574 long intergenic non-protein coding RNA 574 non-coding RNA RNA, long non-coding Approved 6q27 06q27 "FLJ13162|dJ182D15.1|CRALA" chemoresistance‐associated lncRNA C6orf208 chromosome 6 open reading frame 208 Long intergenic non-protein coding RNAs 1986 2003-11-26 2012-02-22 2012-02-22 2019-01-25 80069 ENSG00000231690 OTTHUMG00000016071 uc010kkz.3 AK023224 NR_026780 Q9H8X3 28834648 LINC00574 HGNC:21598 +HGNC:21342 LINC00575 long intergenic non-protein coding RNA 575 non-coding RNA RNA, long non-coding Approved 4q21.22 04q21.22 C4orf11 chromosome 4 open reading frame 11 Long intergenic non-protein coding RNAs 1986 2003-06-09 2012-02-24 2012-02-24 2016-10-05 439934 ENSG00000231782 OTTHUMG00000161121 uc011cck.2 AY316301 NR_024087 Q6W349 15218245 LINC00575 HGNC:21342 +HGNC:43807 LINC00578 long intergenic non-protein coding RNA 578 non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 Long intergenic non-protein coding RNAs 1986 2012-03-12 2017-02-16 100505566 ENSG00000228221 OTTHUMG00000157222 uc062qcq.1 BX101293 NR_047568 27940106 LINC00578 HGNC:43807 +HGNC:43840 LINC00581 long intergenic non-protein coding RNA 581 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 Long intergenic non-protein coding RNAs 1986 2012-03-26 2014-10-22 100874531 ENSG00000280989 OTTHUMG00000189558 uc032woc.2 BX118339 NR_103790 22245136 BX118339 LINC00581 HGNC:43840 +HGNC:43842 LINC00582 long intergenic non-protein coding RNA 582 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Long intergenic non-protein coding RNAs 1986 2012-03-26 2012-10-12 100287814 ENSG00000229228 OTTHUMG00000039488 uc021pkm.3 NR_034037 LINC00582 HGNC:43842 +HGNC:31437 LINC00583 long intergenic non-protein coding RNA 583 non-coding RNA RNA, long non-coding Approved 9p23 09p23 C9orf146 chromosome 9 open reading frame 146 Long intergenic non-protein coding RNAs 1986 2007-08-02 2012-04-03 2012-04-03 2014-11-18 100113404 ENSG00000205636 OTTHUMG00000019564 uc022bdn.2 NR_038194 LINC00583 HGNC:31437 +HGNC:31372 LINC00587 long intergenic non-protein coding RNA 587 non-coding RNA RNA, long non-coding Approved 9q31.1 09q31.1 bA785H23.1 C9orf107 chromosome 9 open reading frame 107 Long intergenic non-protein coding RNAs 1986 2004-06-02 2012-04-11 2012-04-11 2012-10-12 414319 ENSG00000204250 OTTHUMG00000020393 uc033ddi.2 BC038565 NR_103830 B1AMM8 LINC00587 HGNC:31372 +HGNC:24494 LINC00588 long intergenic non-protein coding RNA 588 non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 DKFZP434F122 C8orf71 chromosome 8 open reading frame 71 Long intergenic non-protein coding RNAs 1986 2005-09-22 2012-04-17 2012-04-17 2012-10-12 26138 ENSG00000215117 OTTHUMG00000164424 uc003xtg.3 NR_026772 Q9Y4M8 11230166 LINC00588 HGNC:24494 +HGNC:32299 LINC00589 long intergenic non-protein coding RNA 589 non-coding RNA RNA, long non-coding Approved 8p12 08p12 TSLNC8 tumor suppressor lncRNA on chromosome 8p12 C8orf75 chromosome 8 open reading frame 75 Long intergenic non-protein coding RNAs 1986 2005-09-23 2012-04-17 2012-04-17 2017-07-28 619351 ENSG00000251191 OTTHUMG00000163800 uc064lqy.1 "BC003524|BC014230" NR_026765 28746790 LINC00589 HGNC:32299 +HGNC:27474 LINC00592 long intergenic non-protein coding RNA 592 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Long intergenic non-protein coding RNAs 1986 2012-04-27 2012-10-12 283404 ENSG00000258279 OTTHUMG00000169627 uc010snp.3 BC039104 NR_027358 LINC00592 HGNC:27474 +HGNC:32382 LINC00593 long intergenic non-protein coding RNA 593 non-coding RNA RNA, long non-coding Approved 15q23 15q23 MGC42951 C15orf50 chromosome 15 open reading frame 50 Long intergenic non-protein coding RNAs 1986 2005-11-24 2012-04-30 2012-04-30 2020-01-22 414926 OTTHUMG00000172102 uc002asj.4 BC031958 NR_026764 12477932 LINC00593 HGNC:32382 +HGNC:31430 LINC00595 long intergenic non-protein coding RNA 595 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 C10orf101 chromosome 10 open reading frame 101 Long intergenic non-protein coding RNAs 1986 2004-05-27 2012-04-30 2012-04-30 2017-02-17 414243 ENSG00000230417 OTTHUMG00000018552 "AA256890|BQ082446|BQ070817" NR_073447 HGNC:31430 +HGNC:23167 LINC00596 long intergenic non-protein coding RNA 596 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 CNSLT1I7G C14orf165 chromosome 14 open reading frame 165 Long intergenic non-protein coding RNAs 1986 2004-06-11 2012-04-30 2012-04-30 2020-04-20 102724845 ENSG00000259334 OTTHUMG00000171723 uc031qny.3 "BX161431|CR615368" XR_001750659 Q86U02 LINC00596 HGNC:23167 +HGNC:1193 LINC00597 long intergenic non-protein coding RNA 597 non-coding RNA RNA, long non-coding Approved 15q23-q24 15q23-q24 C15orf5 chromosome 15 open reading frame 5 Long intergenic non-protein coding RNAs 1986 1999-12-22 2012-04-30 2012-04-30 2012-10-12 81698 AL109679 NR_026813 Q9H2U6 HGNC:1193 +HGNC:42770 LINC00598 long intergenic non-protein coding RNA 598 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 "TTL|lncFOXO1" twelve-thirteen translocation leukemia transcript (non-protein coding) Long intergenic non-protein coding RNAs 1986 2012-05-01 2018-07-26 646982 ENSG00000215483 OTTHUMG00000016772 uc001uxk.3 NR_024505 "27572135|28339037" 619008 HGNC:42770 +HGNC:43916 LINC00601 long intergenic non-protein coding RNA 601 non-coding RNA RNA, long non-coding Approved 10q26.2 10q26.2 Long intergenic non-protein coding RNAs 1986 2012-05-03 2017-02-17 101101772 ENSG00000235180 OTTHUMG00000019244 uc031pxp.1 BF215388 NR_073453 LINC00601 HGNC:43916 +HGNC:43917 LINC00602 long intergenic non-protein coding RNA 602 non-coding RNA RNA, long non-coding Approved 6q27 06q27 Long intergenic non-protein coding RNAs 1986 2012-05-03 2012-10-12 441177 ENSG00000281832 OTTHUMG00000189549 uc011egm.4 BC110806 NR_027284 LINC00602 HGNC:43917 +HGNC:43918 LINC00603 long intergenic non-protein coding RNA 603 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 Long intergenic non-protein coding RNAs 1986 2012-05-01 2012-10-12 102467077 ENSG00000250048 OTTHUMG00000162195 uc032urs.1 "BG181872|BX100325" NR_104633 LINC00603 HGNC:43918 +HGNC:43924 LINC00604 long intergenic non-protein coding RNA 604 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 Long intergenic non-protein coding RNAs 1986 2012-05-04 2012-10-12 106144578 ENSG00000250585 OTTHUMG00000162074 uc063det.1 "AI539454|BX115904" NR_170327 LINC00604 +HGNC:43928 LINC00605 long intergenic non-protein coding RNA 605 non-coding RNA RNA, long non-coding Approved 14q32.32 14q32.32 Long intergenic non-protein coding RNAs 1986 2012-05-04 2012-10-12 100131366 ENSG00000251533 OTTHUMG00000171894 uc001ymn.3 BC035396 NR_033938 LINC00605 HGNC:43928 +HGNC:43931 LINC00606 long intergenic non-protein coding RNA 606 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 Long intergenic non-protein coding RNAs 1986 2012-05-04 2012-10-12 285370 ENSG00000226567 OTTHUMG00000155455 uc003bvx.1 AK093398 NR_027102 LINC00606 HGNC:43931 +HGNC:43944 LINC00607 long intergenic non-protein coding RNA 607 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Long intergenic non-protein coding RNAs 1986 2012-05-11 2012-10-12 646324 ENSG00000235770 OTTHUMG00000154834 uc002vfm.1 AK091865 NR_037195 LINC00607 HGNC:43944 +HGNC:27179 LINC00608 long intergenic non-protein coding RNA 608 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Long intergenic non-protein coding RNAs 1986 2012-05-11 2014-11-18 151300 ENSG00000236445 OTTHUMG00000154665 uc061spq.1 BC033552 NR_015390 12477932 LINC00608 HGNC:27179 +HGNC:43960 LINC00609 long intergenic non-protein coding RNA 609 non-coding RNA RNA, long non-coding Approved 14q13.2-q13.3 14q13.2-q13.3 Long intergenic non-protein coding RNAs 1986 2012-05-16 2012-10-12 101101773 ENSG00000257585 OTTHUMG00000170616 uc031qog.1 DN993271 NR_073454 LINC00609 HGNC:43960 +HGNC:28621 LINC00612 long intergenic non-protein coding RNA 612 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 "MGC40170|FLJ41814" C12orf33 chromosome 12 open reading frame 33 Long intergenic non-protein coding RNAs 1986 2006-01-20 2012-05-30 2012-05-30 2012-10-12 253128 ENSG00000214851 OTTHUMG00000168288 uc009zgh.3 BC028195 NR_034140 Q8N6U2 12477932 LINC00612 HGNC:28621 +HGNC:44060 LINC00613 long intergenic non-protein coding RNA 613 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2012-05-30 2012-10-12 100507528 ENSG00000248330 OTTHUMG00000161224 uc032txr.2 AW237894 NR_103762 LINC00613 HGNC:44060 +HGNC:26343 LINC00615 long intergenic non-protein coding RNA 615 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 FLJ25378 C12orf37 chromosome 12 open reading frame 37 Long intergenic non-protein coding RNAs 1986 2006-01-23 2012-05-30 2012-05-30 2012-10-12 439916 ENSG00000196243 OTTHUMG00000170071 uc021rbs.2 AK058107 NR_038868 Q96LM1 LINC00615 HGNC:26343 +HGNC:44065 LINC00616 long intergenic non-protein coding RNA 616 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2012-05-30 2012-10-12 641365 ENSG00000248307 OTTHUMG00000161281 uc003ihh.4 NR_037866 LINC00616 HGNC:44065 +HGNC:20110 LINC00618 long intergenic non-protein coding RNA 618 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 C14orf63 chromosome 14 open reading frame 63 Long intergenic non-protein coding RNAs 1986 2002-12-18 2012-07-05 2012-07-05 2012-10-12 145249 ENSG00000225163 OTTHUMG00000171460 uc059eyf.1 AA055628 NR_104113 LINC00618 HGNC:20110 +HGNC:31657 LINC00619 long intergenic non-protein coding RNA 619 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 bA168P8.1 C10orf136 chromosome 10 open reading frame 136 Long intergenic non-protein coding RNAs 1986 2004-05-27 2012-07-12 2012-07-12 2020-01-22 414260 OTTHUMG00000018048 uc021ppi.1 BC017939 NR_033923 LINC00619 HGNC:31657 +HGNC:44223 LINC00620 long intergenic non-protein coding RNA 620 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 Long intergenic non-protein coding RNAs 1986 2012-07-16 2013-03-14 285375 ENSG00000224514 OTTHUMG00000155508 uc003byd.2 BC039529 NR_027103 "23478628|21368711" LINC00620 HGNC:44223 +HGNC:44227 LINC00621 long intergenic non-protein coding RNA 621 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 Long intergenic non-protein coding RNAs 1986 2012-07-23 2020-11-04 100996930 ENSG00000262619 OTTHUMG00000177835 uc058vwo.1 AK091626 NR_138043 LINC00621 HGNC:44227 +HGNC:44251 LINC00622 long intergenic non-protein coding RNA 622 non-coding RNA RNA, long non-coding Approved 1p12 01p12 Long intergenic non-protein coding RNAs 1986 2012-07-25 2012-10-12 644242 ENSG00000260941 OTTHUMG00000176048 uc021osv.2 "AK123168|BC015390" NR_036540 LINC00622 HGNC:44251 +HGNC:44252 LINC00623 long intergenic non-protein coding RNA 623 non-coding RNA RNA, long non-coding Approved 1p11.2 01p11.2 Long intergenic non-protein coding RNAs 1986 2012-07-25 2017-02-09 728855 ENSG00000226067 OTTHUMG00000185016 uc057jwx.1 NR_024510 28128423 LINC00623 HGNC:44252 +HGNC:44254 LINC00624 long intergenic non-protein coding RNA 624 non-coding RNA RNA, long non-coding Approved 1q21.1-q21.2 01q21.1-q21.2 Long intergenic non-protein coding RNAs 1986 2012-07-25 2018-02-13 100289211 ENSG00000278811 OTTHUMG00000041476 uc057kep.1 NR_038423 HGNC:44254 +HGNC:44257 LINC00626 long intergenic non-protein coding RNA 626 non-coding RNA RNA, long non-coding Approved 1q24.2 01q24.2 MGC4473 Long intergenic non-protein coding RNAs 1986 2012-07-25 2012-10-12 79100 ENSG00000225826 OTTHUMG00000034551 uc001gfq.4 BC001841 NR_024160 LINC00626 HGNC:44257 +HGNC:27008 LINC00628 long intergenic non-protein coding RNA 628 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Long intergenic non-protein coding RNAs 1986 2012-07-25 2018-10-10 127841 ENSG00000280924 OTTHUMG00000189537 uc010pqu.2 BC015457 NR_027022 "27272474|28165561|30280767" LINC00628 HGNC:27008 +HGNC:44262 LINC00629 long intergenic non-protein coding RNA 629 non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 Long intergenic non-protein coding RNAs 1986 2012-08-01 2017-07-05 100506757 ENSG00000227060 OTTHUMG00000022456 uc004exn.2 BQ374946 NR_038998 27023770 LINC00629 HGNC:44262 +HGNC:44263 LINC00630 long intergenic non-protein coding RNA 630 non-coding RNA RNA, long non-coding Approved Xq22.1 Xq22.1 Long intergenic non-protein coding RNAs 1986 2012-08-01 2012-10-12 100287765 ENSG00000223546 OTTHUMG00000022077 uc004ejq.3 "BC032741|BC040959|DA332880" NR_038988 LINC00630 HGNC:44263 +HGNC:27865 LINC00632 long intergenic non-protein coding RNA 632 non-coding RNA RNA, long non-coding Approved Xq27.1 Xq27.1 ASINC alternatively spliced into CiRS-7 Long intergenic non-protein coding RNAs 1986 2013-05-17 2018-09-27 286411 ENSG00000203930 OTTHUMG00000022548 AK054978 NR_028344 "24833871|29236709" LINC00632 HGNC:27865 +HGNC:27184 LINC00635 long intergenic non-protein coding RNA 635 non-coding RNA RNA, long non-coding Approved 3q13.12 03q13.12 Long intergenic non-protein coding RNAs 1986 2012-08-07 2012-10-12 151658 ENSG00000241469 OTTHUMG00000159195 uc003dwp.5 BC045586 NR_015414 12477932 LINC00635 HGNC:27184 +HGNC:27702 LINC00636 long intergenic non-protein coding RNA 636 non-coding RNA RNA, long non-coding Approved 3q13.12 03q13.12 Long intergenic non-protein coding RNAs 1986 2012-08-07 2014-11-18 285205 ENSG00000240423 OTTHUMG00000159197 uc062mfu.1 NR_015394 12477932 LINC00636 HGNC:27702 +HGNC:28325 LINC00638 long intergenic non-protein coding RNA 638 non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 MGC23270 Long intergenic non-protein coding RNAs 1986 2012-08-08 2021-01-22 196872 ENSG00000258701 OTTHUMG00000170791 uc001ypq.5 NR_024396 12477932 LINC00638 HGNC:28325 +HGNC:27502 LINC00639 long intergenic non-protein coding RNA 639 non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Long intergenic non-protein coding RNAs 1986 2012-08-08 2019-07-11 283547 ENSG00000259070 OTTHUMG00000170746 uc001wun.4 "AK125018|AK127318|BC035119" NR_039982 31280115 LINC00639 HGNC:27502 +HGNC:44291 LINC00640 long intergenic non-protein coding RNA 640 non-coding RNA RNA, long non-coding Approved 14q22.1 14q22.1 Long intergenic non-protein coding RNAs 1986 2012-08-08 2012-10-12 283553 ENSG00000258479 OTTHUMG00000171072 uc059blr.1 NR_038358 LINC00640 HGNC:44291 +HGNC:27511 LINC00641 long intergenic non-protein coding RNA 641 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Long intergenic non-protein coding RNAs 1986 2012-08-08 2019-07-24 283624 ENSG00000258441 OTTHUMG00000170756 uc021rov.2 "AK092333|AK093962" NR_038970 31322545 LINC00641 HGNC:27511 +HGNC:44293 LINC00642 long intergenic non-protein coding RNA 642 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 Long intergenic non-protein coding RNAs 1986 2012-08-08 2012-10-12 400238 ENSG00000233208 OTTHUMG00000149923 uc021ryj.2 "BC036259|BX101323" NR_033986 LINC00642 HGNC:44293 +HGNC:44296 LINC00643 long intergenic non-protein coding RNA 643 other unknown Approved 14q23.2 14q23.2 Long intergenic non-protein coding RNAs 1986 2012-08-08 2021-08-18 646113 ENSG00000186369 OTTHUMG00000171566 uc059cgy.1 NR_015358 Q86TS7 MGI:1921534 LINC00643 HGNC:44296 +HGNC:44297 LINC00644 long intergenic non-protein coding RNA 644 non-coding RNA RNA, long non-coding Approved 14q23.2 14q23.2 Long intergenic non-protein coding RNAs 1986 2012-08-08 2014-01-30 101954204 ENSG00000259142 OTTHUMG00000171117 uc032bdr.2 AW292481 NR_104063 LINC00644 HGNC:44297 +HGNC:44299 LINC00645 long intergenic non-protein coding RNA 645 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2012-08-08 2012-10-12 100505967 ENSG00000258548 OTTHUMG00000170580 uc001wqc.4 "BC042069|BX538073|BX538140" NR_039992 LINC00645 HGNC:44299 +HGNC:44302 LINC00648 long intergenic non-protein coding RNA 648 non-coding RNA RNA, long non-coding Approved 14q21.3 14q21.3 Long intergenic non-protein coding RNAs 1986 2012-08-08 2012-10-12 100506433 ENSG00000259129 OTTHUMG00000170822 uc001wwk.3 "AK056212|CA435241" NR_039996 LINC00648 HGNC:44302 +HGNC:44305 LINC00649 long intergenic non-protein coding RNA 649 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 "TCONS_00028768|lnc-ITSN1-2" Long intergenic non-protein coding RNAs 1986 2012-08-08 2020-01-10 100506334 ENSG00000237945 OTTHUMG00000065819 uc061zur.1 DA374118 NR_038883 26421281 LINC00649 HGNC:44305 +HGNC:25003 LINC00652 long intergenic non-protein coding RNA 652 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 HSPC072 Long intergenic non-protein coding RNAs 1986 2012-08-09 2014-11-18 29075 ENSG00000179935 OTTHUMG00000031986 uc002wrg.3 "AF161557|BC029555" NR_026883 11042152 LINC00652 HGNC:25003 +HGNC:27154 LINC00654 long intergenic non-protein coding RNA 654 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 Long intergenic non-protein coding RNAs 1986 2012-08-09 2012-10-12 149837 ENSG00000205181 OTTHUMG00000031810 uc061vgg.1 BC067900 NR_015406 LINC00654 HGNC:27154 +HGNC:27304 LINC00656 long intergenic non-protein coding RNA 656 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 Long intergenic non-protein coding RNAs 1986 2012-08-09 2014-11-18 200261 ENSG00000233746 OTTHUMG00000133099 uc021wbi.3 "AF258576|CA748604|DA864592" NR_034149 LINC00656 HGNC:27304 +HGNC:44315 LINC00658 long intergenic non-protein coding RNA 658 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 Long intergenic non-protein coding RNAs 1986 2012-08-09 2012-10-12 100507629 ENSG00000226995 OTTHUMG00000031805 uc061vgc.1 BC035192 NR_038239 LINC00658 HGNC:44315 +HGNC:44316 LINC00659 long intergenic non-protein coding RNA 659 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Long intergenic non-protein coding RNAs 1986 2012-08-09 2012-10-12 100652730 ENSG00000228705 OTTHUMG00000032931 uc061yjm.1 "DA633805|DB320598" NR_046224 LINC00659 HGNC:44316 +HGNC:27002 LINC00661 long intergenic non-protein coding RNA 661 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 Long intergenic non-protein coding RNAs 1986 2012-08-10 2012-10-12 126536 ENSG00000205396 OTTHUMG00000169715 uc002nbw.3 "AI184190|CR749400" NR_026828 12477932 LINC00661 HGNC:27002 +HGNC:27122 LINC00662 long intergenic non-protein coding RNA 662 non-coding RNA RNA, long non-coding Approved 19q11 19q11 Long intergenic non-protein coding RNAs 1986 2012-08-10 2021-10-13 148189 ENSG00000261824 uc060wlx.1 "AK311452|BC045720" NR_027301 32814092 LINC00662 HGNC:27122 +HGNC:28609 LINC00663 long intergenic non-protein coding RNA 663 non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 MGC39821 Long intergenic non-protein coding RNAs 1986 2012-08-10 2016-11-25 284440 ENSG00000266904 OTTHUMG00000182363 "AK289657|BC034236|DB196080" NR_026956 12477932 617117 LINC00663 HGNC:28609 +HGNC:44319 LINC00664 long intergenic non-protein coding RNA 664 non-coding RNA RNA, long non-coding Approved 19p12 19p12 Long intergenic non-protein coding RNAs 1986 2013-05-21 2013-05-21 400680 ENSG00000268658 OTTHUMG00000182847 NR_037194 LINC00664 HGNC:44319 +HGNC:44323 LINC00665 long intergenic non-protein coding RNA 665 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 CIP2A-BP CIP2A binding peptide Long intergenic non-protein coding RNAs 1986 2012-08-10 2021-02-08 100506930 ENSG00000232677 OTTHUMG00000048145 uc060xom.1 "AI282277|BC041949|BU071001" NR_038278 "28418939|29728556|31755573" LINC00665 HGNC:44323 +HGNC:27906 LINC00667 long intergenic non-protein coding RNA 667 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Long intergenic non-protein coding RNAs 1986 2012-08-13 2022-02-22 339290 ENSG00000263753 OTTHUMG00000178805 uc002kmo.4 NR_015389 "33040228|35168108" LINC00667 HGNC:27906 +HGNC:44328 LINC00668 long intergenic non-protein coding RNA 668 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Long intergenic non-protein coding RNAs 1986 2012-08-13 2019-07-12 400643 ENSG00000265933 OTTHUMG00000178875 uc002kng.1 NR_034100 "28564590|31150989" LINC00668 HGNC:44328 +HGNC:44338 LINC00670 long intergenic non-protein coding RNA 670 non-coding RNA RNA, long non-coding Approved 17p12 17p12 FLJ34690 Long intergenic non-protein coding RNAs 1986 2012-08-14 2012-10-12 284034 ENSG00000179136 OTTHUMG00000058766 uc002gnl.3 "BC122870|DB255288" NR_034144 LINC00670 HGNC:44338 +HGNC:44339 LINC00671 long intergenic non-protein coding RNA 671 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Long intergenic non-protein coding RNAs 1986 2012-08-14 2012-10-12 388387 ENSG00000213373 OTTHUMG00000132654 uc002iby.3 "AK055784|BC122868|DC361857" NR_027254 LINC00671 HGNC:44339 +HGNC:44353 LINC00672 long intergenic non-protein coding RNA 672 other unknown Approved 17q12 17q12 Long intergenic non-protein coding RNAs 1986 2012-08-17 2020-06-18 100505576 ENSG00000263874 OTTHUMG00000178440 uc002hrb.3 "AK090935|BC009632" NR_038847 28232485 617544 LINC00672 HGNC:44353 +HGNC:44354 LINC00673 long intergenic non-protein coding RNA 673 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 "HI-LNC75|SLNCR1|ERRLR01" "Human Islet Long Non Coding RNA 75|SRA-like non-coding RNA" Long intergenic non-protein coding RNAs 1986 2012-08-17 2017-11-01 100499467 "AK000477|AK129763" NR_036488 "23040067|27210747|27213290" 617079 HGNC:44354 +HGNC:44355 LINC00674 long intergenic non-protein coding RNA 674 non-coding RNA RNA, long non-coding Approved 17q24.2 17q24.2 Long intergenic non-protein coding RNAs 1986 2012-08-17 2014-10-08 100499466 ENSG00000237854 OTTHUMG00000132303 "BC045718|DA232946" NR_027418 LINC00674 HGNC:44355 +HGNC:44394 LINC00676 long intergenic non-protein coding RNA 676 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2012-09-24 2012-10-12 101409253 ENSG00000234854 OTTHUMG00000017340 uc032aov.2 AW816149 NR_103846 LINC00676 HGNC:44394 +HGNC:20121 LINC00677 long intergenic non-protein coding RNA 677 non-coding RNA RNA, long non-coding Approved 14q32.32 14q32.32 C14orf74 chromosome 14 open reading frame 74 Long intergenic non-protein coding RNAs 1986 2002-12-18 2012-09-28 2012-09-28 2020-04-20 105370683 ENSG00000259717 OTTHUMG00000171889 uc059foy.1 AW182802 NR_138038 LINC00677 HGNC:20121 +HGNC:44413 LINC00678 long intergenic non-protein coding RNA 678 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 Long intergenic non-protein coding RNAs 1986 2012-10-01 2012-10-12 101410541 ENSG00000254934 OTTHUMG00000166194 uc057zyj.1 "CD176172|CD049147" NR_102708 LINC00678 HGNC:44413 +HGNC:44417 LINC00680 long intergenic non-protein coding RNA 680 non-coding RNA RNA, long non-coding Approved 6p11.2 06p11.2 Long intergenic non-protein coding RNAs 1986 2012-10-01 2020-04-20 106660612 ENSG00000215190 OTTHUMG00000014928 uc003ped.5 "BC011838|BC017330" NR_125727 27980086 LINC00680 HGNC:44417 +HGNC:44423 LINC00681 long intergenic non-protein coding RNA 681 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Long intergenic non-protein coding RNAs 1986 2012-10-08 2012-10-12 101409254 ENSG00000255494 OTTHUMG00000129516 uc031tak.1 "BM725196|BM678210" NR_102423 LINC00681 HGNC:44423 +HGNC:44466 LINC00682 long intergenic non-protein coding RNA 682 non-coding RNA RNA, long non-coding Approved 4p13 04p13 Long intergenic non-protein coding RNAs 1986 2012-10-10 2020-01-10 101927074 ENSG00000245870 OTTHUMG00000160528 uc003gwh.5 BC025350 NR_104143 31822638 LINC00682 HGNC:44466 +HGNC:44467 LINC00683 long intergenic non-protein coding RNA 683 non-coding RNA RNA, long non-coding Approved 18q23 18q23 Long intergenic non-protein coding RNAs 1986 2012-10-15 2012-10-16 400660 ENSG00000266256 OTTHUMG00000179274 uc060qfg.1 AK094957 NR_120419 LINC00683 HGNC:44467 +HGNC:27560 LINC00685 long intergenic non-protein coding RNA 685 non-coding RNA RNA, long non-coding Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 OTTHUMT00000055574 "CXYorf10|NCRNA00107|PPP2R3B-AS1" "chromosome X and Y open reading frame 10|non-protein coding RNA 107|PPP2R3B antisense RNA 1 (non-protein coding)|PPP2R3B antisense RNA 1" "Pseudoautosomal region 1|Long intergenic non-protein coding RNAs" "715|1986" 2008-10-09 2012-10-17 2012-10-17 2012-10-17 283981 ENSG00000226179 OTTHUMG00000021049 uc065cmh.1 BC041934 NR_027231 12477932 LINC00685 HGNC:27560 +HGNC:16221 LINC00686 long intergenic non-protein coding RNA 686 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 bA93B14.2 C20orf90 chromosome 20 open reading frame 90 Long intergenic non-protein coding RNAs 1986 2001-07-17 2012-10-24 2012-10-24 2012-10-24 140865 ENSG00000237687 OTTHUMG00000032927 uc061yjj.1 D80415 LINC00686 +HGNC:16194 LINC00687 long intergenic non-protein coding RNA 687 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 dJ1012F16.1 C20orf61 chromosome 20 open reading frame 61 Long intergenic non-protein coding RNAs 1986 2001-07-17 2012-10-29 2012-10-29 2012-10-29 728450 ENSG00000228422 OTTHUMG00000031887 uc061vkj.1 BX092309 XR_109647 LINC00687 HGNC:16194 +HGNC:27217 LINC00689 long intergenic non-protein coding RNA 689 non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Long intergenic non-protein coding RNAs 1986 2012-11-06 2019-06-19 154822 ENSG00000231419 OTTHUMG00000151442 uc003wof.4 NR_024394 31181442 LINC00689 HGNC:27217 +HGNC:44503 LINC00690 long intergenic non-protein coding RNA 690 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 Long intergenic non-protein coding RNAs 1986 2012-11-13 2012-11-13 100996597 ENSG00000233570 OTTHUMG00000157049 uc003caz.3 BC034913 NR_103843 LINC00690 HGNC:44503 +HGNC:44514 LINC00691 long intergenic non-protein coding RNA 691 non-coding RNA RNA, long non-coding Approved 3p24.2 03p24.2 Long intergenic non-protein coding RNAs 1986 2012-11-13 2020-05-21 152024 ENSG00000224074 OTTHUMG00000155662 uc003ccv.3 NR_026834 32420681 LINC00691 HGNC:44514 +HGNC:27708 LINC00692 long intergenic non-protein coding RNA 692 non-coding RNA RNA, long non-coding Approved 3p24.2 03p24.2 Long intergenic non-protein coding RNAs 1986 2012-11-14 2014-11-19 285326 ENSG00000230891 OTTHUMG00000155601 uc003cdo.4 BC033370 NR_034055 12477932 LINC00692 HGNC:27708 +HGNC:44526 LINC00693 long intergenic non-protein coding RNA 693 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 Long intergenic non-protein coding RNAs 1986 2012-11-14 2017-02-17 645206 uc021wur.2 NR_038840 LINC00693 HGNC:44526 +HGNC:34426 LINC00696 long intergenic non-protein coding RNA 696 non-coding RNA RNA, long non-coding Approved 3p21.1 03p21.1 C3orf74 chromosome 3 open reading frame 74 Long intergenic non-protein coding RNAs 1986 2008-10-09 2012-11-20 2012-11-20 2014-11-19 100128378 AK127958 NR_027331 Q6ZRV3 LINC00696 HGNC:34426 +HGNC:27720 LINC00698 long intergenic non-protein coding RNA 698 non-coding RNA RNA, long non-coding Approved 3p14.2 03p14.2 Long intergenic non-protein coding RNAs 1986 2012-11-23 2014-11-18 285401 ENSG00000244342 OTTHUMG00000158701 uc003dlo.4 "BC039502|BC043407" NR_027104 LINC00698 HGNC:27720 +HGNC:27422 LINC00700 long intergenic non-protein coding RNA 700 non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 Long intergenic non-protein coding RNAs 1986 2012-12-03 2014-11-18 282980 ENSG00000234962 OTTHUMG00000017547 uc001igo.3 AK097474 NR_040253 LINC00700 HGNC:27422 +HGNC:44674 LINC00701 long intergenic non-protein coding RNA 701 non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 Long intergenic non-protein coding RNAs 1986 2012-12-03 2012-12-03 399708 ENSG00000234556 OTTHUMG00000017548 uc021pmj.2 BC055423 NR_038884 LINC00701 HGNC:44674 +HGNC:44676 LINC00702 long intergenic non-protein coding RNA 702 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Long intergenic non-protein coding RNAs 1986 2012-12-03 2012-12-04 100652988 ENSG00000233117 OTTHUMG00000017572 uc031vvk.2 "DA655411|DB287388|CN281541" NR_108040 LINC00702 HGNC:44676 +HGNC:44677 LINC00703 long intergenic non-protein coding RNA 703 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Long intergenic non-protein coding RNAs 1986 2012-12-03 2020-01-09 100507059 ENSG00000224382 OTTHUMG00000017573 uc001ihd.1 AK095699 NR_108054 31897348 LINC00703 HGNC:44677 +HGNC:27874 LINC00705 long intergenic non-protein coding RNA 705 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Long intergenic non-protein coding RNAs 1986 2012-12-04 2014-11-18 338588 ENSG00000225269 OTTHUMG00000017575 uc001ihg.4 BC104742 NR_015425 12477932 LINC00705 HGNC:27874 +HGNC:44690 LINC00706 long intergenic non-protein coding RNA 706 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Long intergenic non-protein coding RNAs 1986 2012-12-04 2018-12-06 100652997 ENSG00000281186 OTTHUMG00000189562 uc031vwd.2 "DA137858|DB484295" NR_108074 HGNC:44690 +HGNC:44691 LINC00707 long intergenic non-protein coding RNA 707 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Long intergenic non-protein coding RNAs 1986 2012-12-04 2019-07-12 100507127 ENSG00000238266 OTTHUMG00000017627 uc001ijm.3 NR_038291 "29482190|31213848" LINC00707 HGNC:44691 +HGNC:44694 LINC00708 long intergenic non-protein coding RNA 708 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Long intergenic non-protein coding RNAs 1986 2012-12-04 2013-05-31 100507143 ENSG00000232170 OTTHUMG00000017645 uc001ikb.4 BC031880 NR_108058 LINC00708 HGNC:44694 +HGNC:44700 LINC00709 long intergenic non-protein coding RNA 709 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Long intergenic non-protein coding RNAs 1986 2012-12-04 2012-12-04 100507163 ENSG00000230014 OTTHUMG00000017652 uc031vwv.2 "AI761698|BX111793|CR737742" NR_108039 LINC00709 HGNC:44700 +HGNC:27386 LINC00710 long intergenic non-protein coding RNA 710 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Long intergenic non-protein coding RNAs 1986 2012-12-05 2014-11-19 254312 ENSG00000229240 OTTHUMG00000017661 uc057rqj.1 NR_015413 LINC00710 HGNC:27386 +HGNC:50281 LINC00824 long intergenic non-protein coding RNA 824 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 LINC01263 long intergenic non-protein coding RNA 1263 Long intergenic non-protein coding RNAs 1986 2014-03-27 2014-06-26 2014-06-26 2014-06-26 101927774 ENSG00000254275 OTTHUMG00000165050 BC009730 NR_121672 LINC00824 HGNC:50281 +HGNC:44915 LINC00836 long intergenic non-protein coding RNA 836 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Long intergenic non-protein coding RNAs 1986 2012-12-18 2014-01-30 101929052 ENSG00000280809 OTTHUMG00000189579 uc001isl.1 "W37259|BX100192" NR_108067 LINC00836 HGNC:44915 +HGNC:27436 LINC00837 long intergenic non-protein coding RNA 837 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Long intergenic non-protein coding RNAs 1986 2012-12-19 2014-11-19 100507605 ENSG00000235824 OTTHUMG00000017876 uc001iuk.3 NR_038374 LINC00837 HGNC:27436 +HGNC:44963 LINC00838 long intergenic non-protein coding RNA 838 non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 Long intergenic non-protein coding RNAs 1986 2012-12-20 2012-12-20 100505583 ENSG00000261683 OTTHUMG00000176162 uc001ixd.4 BC042457 NR_038932 LINC00838 HGNC:44963 +HGNC:28269 LINC00839 long intergenic non-protein coding RNA 839 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 Long intergenic non-protein coding RNAs 1986 2012-12-20 2015-01-22 84856 ENSG00000185904 OTTHUMG00000018010 uc001izy.4 NR_026827 12477932 LINC00839 HGNC:28269 +HGNC:44987 LINC00840 long intergenic non-protein coding RNA 840 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 Long intergenic non-protein coding RNAs 1986 2013-01-03 2018-02-28 100506835 ENSG00000226808 OTTHUMG00000018049 uc021ppj.1 NR_038268 HGNC:44987 +HGNC:27430 LINC00841 long intergenic non-protein coding RNA 841 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 Long intergenic non-protein coding RNAs 1986 2013-01-03 2014-11-19 283033 ENSG00000233395 OTTHUMG00000018053 uc001jbe.1 AK093142 NR_033846 HGNC:27430 +HGNC:44989 LINC00842 long intergenic non-protein coding RNA 842 non-coding RNA RNA, long non-coding Approved 10q11.22 10q11.22 Long intergenic non-protein coding RNAs 1986 2013-01-04 2015-01-30 643650 ENSG00000285294 NR_033957 LINC00842 HGNC:44989 +HGNC:45031 LINC00844 long intergenic non-protein coding RNA 844 non-coding RNA RNA, long non-coding Approved 10q21.1 10q21.1 Long intergenic non-protein coding RNAs 1986 2013-01-08 2020-04-01 100507008 ENSG00000237949 OTTHUMG00000018273 uc031wic.2 "BG618474|AB060916|AI572833" NR_108046 32222775 LINC00844 HGNC:45031 +HGNC:45033 LINC00845 long intergenic non-protein coding RNA 845 non-coding RNA RNA, long non-coding Approved 10q21.2 10q21.2 Long intergenic non-protein coding RNAs 1986 2013-01-08 2013-01-08 100507058 ENSG00000227244 OTTHUMG00000018291 uc031wil.2 "BX105353|AI792470" NR_108052 LINC00845 HGNC:45033 +HGNC:45050 LINC00847 long intergenic non-protein coding RNA 847 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Long intergenic non-protein coding RNAs 1986 2013-01-31 2021-06-07 729678 ENSG00000245060 OTTHUMG00000162270 uc063kvk.1 AK095170 NR_027183 33968966 LINC00847 HGNC:45050 +HGNC:45092 LINC00850 long intergenic non-protein coding RNA 850 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 KUCG1 Long intergenic non-protein coding RNAs 1986 2013-02-11 2016-11-24 101241891 ENSG00000280752 OTTHUMG00000189730 uc033ezx.1 JX283354 NR_109813 23223008 300892 kucg1 HGNC:45092 +HGNC:43424 LINC00851 long intergenic non-protein coding RNA 851 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 DZANK1-AS1 "DZANK1 antisense RNA 1 (non-protein coding)|DZANK1 antisense RNA 1 (tail to tail)" Long intergenic non-protein coding RNAs 1986 2011-10-07 2013-02-13 2013-02-13 2013-02-13 440757 ENSG00000237282 OTTHUMG00000057443 uc021wbc.2 NR_034167 LINC00851 HGNC:43424 +HGNC:29904 LINC00852 long intergenic non-protein coding RNA 852 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 "NAG73|GHRL-AS2" GHRL antisense RNA 2 (non-protein coding) "C3orf42|GHRLOS2" "chromosome 3 open reading frame 42|ghrelin opposite strand/antisense RNA 2 (tail to tail)" Long intergenic non-protein coding RNAs 1986 2006-01-10 2013-02-13 2013-02-13 2021-09-22 84657 ENSG00000231177 OTTHUMG00000155362 uc010hcz.3 AF280797 NR_026829 34496800 LINC00852 HGNC:29904 +HGNC:43716 LINC00853 long intergenic non-protein coding RNA 853 non-coding RNA RNA, long non-coding Approved 1p33 01p33 ncRNA-a4 PDZK1IP1-AS1 "PDZK1IP1 antisense RNA 1 (non-protein coding)|PDZK1IP1 antisense RNA 1 (tail to tail)" Long intergenic non-protein coding RNAs 1986 2012-02-02 2013-02-13 2013-02-13 2014-10-22 100874253 ENSG00000224805 OTTHUMG00000007850 uc031pmn.1 AI792909 NR_047498 20887892 PDZK1IP1-AS1 LINC00853 HGNC:43716 +HGNC:45111 LINC00856 long intergenic non-protein coding RNA 856 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Long intergenic non-protein coding RNAs 1986 2013-02-15 2017-02-17 100132987 ENSG00000230417 OTTHUMG00000018555 uc284mwf.1 NR_038985 HGNC:45111 +HGNC:45114 LINC00857 long intergenic non-protein coding RNA 857 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 HUMT lncRNA highly upregulated in metastatic TNBC-lymph node Long intergenic non-protein coding RNAs 1986 2013-02-15 2020-04-01 439990 ENSG00000237523 OTTHUMG00000018605 uc001kbv.3 NR_038464 "29856124|32138762" LINC00857 HGNC:45114 +HGNC:27276 LINC00858 long intergenic non-protein coding RNA 858 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 CRCAL-2 colorectal cancer associated lncRNA Long intergenic non-protein coding RNAs 1986 2013-02-15 2018-07-20 170425 ENSG00000229404 OTTHUMG00000018638 uc001kdf.1 NR_038220 "28177876|29944887" LINC00858 HGNC:27276 +HGNC:45133 LINC00861 long intergenic non-protein coding RNA 861 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 Long intergenic non-protein coding RNAs 1986 2013-02-22 2013-02-22 100130231 ENSG00000245164 OTTHUMG00000165025 uc022bbb.2 NR_038446 LINC00861 HGNC:45133 +HGNC:21901 LINC00862 long intergenic non-protein coding RNA 862 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 "C1orf98|SMIM16" "chromosome 1 open reading frame 98|small integral membrane protein 16" Long intergenic non-protein coding RNAs 1986 2005-05-31 2013-02-22 2013-02-22 2022-04-06 554279 ENSG00000203721 OTTHUMG00000035722 uc001gvd.1 BC040731 NR_040064 A6NCI5 28611953 LINC00862 HGNC:21901 +HGNC:45162 LINC00863 long intergenic non-protein coding RNA 863 non-coding RNA RNA, long non-coding Approved 10q23.2 10q23.2 Long intergenic non-protein coding RNAs 1986 2013-02-28 2020-04-20 439994 ENSG00000224914 OTTHUMG00000018673 uc021pvt.2 BC082979 NR_029408 LINC00863 HGNC:45162 +HGNC:45170 LINC00865 long intergenic non-protein coding RNA 865 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 Long intergenic non-protein coding RNAs 1986 2013-03-01 2013-03-01 643529 ENSG00000232229 OTTHUMG00000018726 uc001kgv.3 NR_038382 LINC00865 HGNC:45170 +HGNC:45265 LINC00867 long intergenic non-protein coding RNA 867 non-coding RNA RNA, long non-coding Approved 10q26.11 10q26.11 Long intergenic non-protein coding RNAs 1986 2013-03-12 2013-03-12 100506126 ENSG00000232139 OTTHUMG00000019132 uc057wgw.1 "AI733769|AA121564" NR_108045 LINC00867 HGNC:45265 +HGNC:27562 LINC00868 long intergenic non-protein coding RNA 868 non-coding RNA RNA, long non-coding Approved 17q25.2 17q25.2 C17orf52 chromosome 17 open reading frame 52 Long intergenic non-protein coding RNAs 1986 2005-12-14 2013-03-14 2013-03-14 2013-03-14 283994 ENSG00000267535 OTTHUMG00000177703 uc060knr.1 BC038218 NR_135283 12477932 LINC00868 HGNC:27562 +HGNC:29050 LINC00869 long intergenic non-protein coding RNA 869 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 KIAA0493 Long intergenic non-protein coding RNAs 1986 2005-10-04 2013-03-15 2013-03-15 2016-10-05 57234 ENSG00000277147 OTTHUMG00000182426 uc031uxj.2 AB007962 NR_046135 P0C866 9455484 LINC00869 HGNC:29050 +HGNC:27319 LINC00870 long intergenic non-protein coding RNA 870 non-coding RNA RNA, long non-coding Approved 3p13 03p13 Long intergenic non-protein coding RNAs 1986 2013-04-04 2013-04-04 201617 ENSG00000243083 OTTHUMG00000159724 uc003dpd.3 NR_038221 LINC00870 HGNC:27319 +HGNC:47038 LINC00871 long intergenic non-protein coding RNA 871 non-coding RNA RNA, long non-coding Approved 14q21.2 14q21.2 RP11-1A16.1 Long intergenic non-protein coding RNAs 1986 2013-04-12 2013-07-05 100506412 ENSG00000258700 OTTHUMG00000170871 uc059bek.1 BG186771 NR_102699 LINC00871 HGNC:47038 +HGNC:27706 LINC00877 long intergenic non-protein coding RNA 877 non-coding RNA RNA, long non-coding Approved 3p13 03p13 Long intergenic non-protein coding RNAs 1986 2013-05-15 2014-11-19 285286 ENSG00000241163 OTTHUMG00000158784 AK097190 NR_104116 LINC00877 HGNC:27706 +HGNC:48566 LINC00879 long intergenic non-protein coding RNA 879 non-coding RNA RNA, long non-coding Approved 3q11.2 03q11.2 Long intergenic non-protein coding RNAs 1986 2013-05-17 2013-05-17 255025 ENSG00000239589 OTTHUMG00000159021 NR_015400 LINC00879 HGNC:48566 +HGNC:27948 LINC00880 long intergenic non-protein coding RNA 880 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 Long intergenic non-protein coding RNAs 1986 2013-05-17 2017-12-08 339894 ENSG00000243629 OTTHUMG00000158717 "BC038760|BC040669" NR_034007 29215699 LINC00880 HGNC:27948 +HGNC:48567 LINC00881 long intergenic non-protein coding RNA 881 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 Long intergenic non-protein coding RNAs 1986 2013-05-17 2013-05-17 100498859 ENSG00000241135 OTTHUMG00000158712 NR_034008 LINC00881 HGNC:48567 +HGNC:48568 LINC00882 long intergenic non-protein coding RNA 882 non-coding RNA RNA, long non-coding Approved 3q13.12 03q13.12 Long intergenic non-protein coding RNAs 1986 2013-05-17 2018-10-10 100302640 ENSG00000242759 OTTHUMG00000159196 NR_028303 "24886442|30271163" LINC00882 HGNC:48568 +HGNC:48571 LINC00885 long intergenic non-protein coding RNA 885 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2013-05-17 2013-05-17 401109 ENSG00000224652 OTTHUMG00000155713 NR_034088 LINC00885 HGNC:48571 +HGNC:48572 LINC00886 long intergenic non-protein coding RNA 886 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 Long intergenic non-protein coding RNAs 1986 2013-05-17 2013-05-17 730091 ENSG00000240875 OTTHUMG00000158647 NR_038387 LINC00886 HGNC:48572 +HGNC:48574 LINC00887 long intergenic non-protein coding RNA 887 non-coding RNA RNA, long non-coding Approved 3q29 03q29 "linc-ATP13A4-8|HEIRCC" high-expressed in renal cell carcinoma Long intergenic non-protein coding RNAs 1986 2013-05-17 2017-01-05 100131551 ENSG00000214145 OTTHUMG00000155982 NR_024480 "26400545|28030807" LINC00887 HGNC:48574 +HGNC:48575 LINC00888 long intergenic non-protein coding RNA 888 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 Long intergenic non-protein coding RNAs 1986 2013-05-17 2017-03-03 100505687 ENSG00000240024 OTTHUMG00000158437 AK057000 NR_038301 28225791 LINC00888 HGNC:48575 +HGNC:48577 LINC00891 long intergenic non-protein coding RNA 891 non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 FLJ46446 Long intergenic non-protein coding RNAs 1986 2013-05-17 2017-06-02 441501 ENSG00000281852 OTTHUMG00000189559 BX276092 NR_034005 HGNC:48577 +HGNC:48578 LINC00892 long intergenic non-protein coding RNA 892 non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 Long intergenic non-protein coding RNAs 1986 2013-05-17 2013-05-17 100128420 ENSG00000233093 OTTHUMG00000022511 NR_038461 LINC00892 HGNC:48578 +HGNC:48580 LINC00895 long intergenic non-protein coding RNA 895 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long intergenic non-protein coding RNAs 1986 2013-05-17 2016-11-07 150185 ENSG00000281548 OTTHUMG00000189517 "AK057431|BC104250" NR_024381 HGNC:48580 +HGNC:26519 LINC00896 long intergenic non-protein coding RNA 896 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 FLJ32575 Long intergenic non-protein coding RNAs 1986 2013-05-17 2016-11-07 150197 ENSG00000236499 OTTHUMG00000186112 AK057137 NR_026919 HGNC:26519 +HGNC:48581 LINC00898 long intergenic non-protein coding RNA 898 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Long intergenic non-protein coding RNAs 1986 2013-05-17 2013-05-17 400932 ENSG00000205634 OTTHUMG00000150323 NR_033377 LINC00898 HGNC:48581 +HGNC:48583 LINC00899 long intergenic non-protein coding RNA 899 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Long intergenic non-protein coding RNAs 1986 2013-05-17 2022-04-01 100271722 ENSG00000231711 OTTHUMG00000150406 NR_027036 32296040 LINC00899 HGNC:48583 +HGNC:27444 LINC00900 long intergenic non-protein coding RNA 900 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Long intergenic non-protein coding RNAs 1986 2013-05-17 2013-05-17 283143 ENSG00000246100 OTTHUMG00000168216 NR_034148 LINC00900 HGNC:27444 +HGNC:40352 LINC00901 long intergenic non-protein coding RNA 901 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 "TCONS_00005428|BC040587" LSAMP-AS4 LSAMP antisense RNA 4 Long intergenic non-protein coding RNAs 1986 2011-07-27 2013-05-21 2013-05-21 2015-01-23 100506724 ENSG00000242385 OTTHUMG00000159347 "BI464214|BC040587" NR_121607 25435812 LINC00901 HGNC:40352 +HGNC:40351 LINC00903 long intergenic non-protein coding RNA 903 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 LSAMP-AS2 LSAMP antisense RNA 2 Long intergenic non-protein coding RNAs 1986 2011-07-27 2013-05-21 2013-05-21 2014-11-19 100861506 ENSG00000241397 OTTHUMG00000159325 DB446734 NR_046624 LINC00903 HGNC:40351 +HGNC:44325 LINC00904 long intergenic non-protein coding RNA 904 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Long intergenic non-protein coding RNAs 1986 2013-05-21 2020-01-22 100652909 ENSG00000271171 OTTHUMG00000185148 BX091932 NR_046222 LINC00904 HGNC:44325 +HGNC:26334 LINC00905 long intergenic non-protein coding RNA 905 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 FLJ25328 Long intergenic non-protein coding RNAs 1986 2013-05-21 2015-08-26 148231 ENSG00000167459 OTTHUMG00000186020 "BC031284|BC069223|DB461577" NR_024335 LINC00905 HGNC:26334 +HGNC:27121 LINC00906 long intergenic non-protein coding RNA 906 non-coding RNA RNA, long non-coding Approved 19q12 19q12 Long intergenic non-protein coding RNAs 1986 2013-05-21 2013-05-21 148145 ENSG00000267339 OTTHUMG00000181995 "BX647231|BC039341" NR_027318 LINC00906 HGNC:27121 +HGNC:44327 LINC00907 long intergenic non-protein coding RNA 907 non-coding RNA RNA, long non-coding Approved 18q12.3 18q12.3 Long intergenic non-protein coding RNAs 1986 2013-05-21 2013-05-21 284260 ENSG00000267586 OTTHUMG00000178321 "BC021928|BC040725|BC011527" NR_046174 LINC00907 HGNC:44327 +HGNC:27599 LINC00908 long intergenic non-protein coding RNA 908 non-coding RNA RNA, long non-coding Approved 18q23 18q23 ASRPS a small regulatory peptide of STAT3 Long intergenic non-protein coding RNAs 1986 2013-05-21 2020-10-12 284276 OTTHUMG00000179141 "AK093936|BC035336|BC121150" NR_015417 "31938018|31816634" LINC00908 HGNC:27599 +HGNC:44361 LINC00910 long intergenic non-protein coding RNA 910 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Long intergenic non-protein coding RNAs 1986 2013-05-21 2013-05-21 100130581 ENSG00000188825 OTTHUMG00000180880 BC035366 NR_027412 LINC00910 HGNC:44361 +HGNC:48596 LINC00911 long intergenic non-protein coding RNA 911 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 Long intergenic non-protein coding RNAs 1986 2013-05-21 2013-05-21 100996280 ENSG00000259107 OTTHUMG00000171369 "AA905171|AK131026" NR_102737 LINC00911 HGNC:48596 +HGNC:48607 LINC00917 long intergenic non-protein coding RNA 917 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 Long intergenic non-protein coding RNAs 1986 2013-05-24 2013-05-24 732275 ENSG00000168367 OTTHUMG00000183867 NR_024406 LINC00917 HGNC:48607 +HGNC:48610 LINC00919 long intergenic non-protein coding RNA 919 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Long intergenic non-protein coding RNAs 1986 2013-05-24 2013-05-24 100505619 ENSG00000260268 OTTHUMG00000173235 AK098676 NR_038233 LINC00919 HGNC:48610 +HGNC:48611 LINC00920 long intergenic non-protein coding RNA 920 non-coding RNA RNA, long non-coding Approved 16q21 16q21 CALIC cancer metastasis‐associated long intergenic non‐coding RNA Long intergenic non-protein coding RNAs 1986 2013-05-24 2019-08-08 100505865 ENSG00000246898 OTTHUMG00000175510 "AW015153|DA813001" NR_046242 31353791 LINC00920 HGNC:48611 +HGNC:26830 LINC00921 long intergenic non-protein coding RNA 921 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 FLJ39639 Long intergenic non-protein coding RNAs 1986 2013-05-24 2022-02-22 283876 ENSG00000281005 OTTHUMG00000189522 NR_033904 35179718 LINC00921 HGNC:26830 +HGNC:27545 LINC00922 long intergenic non-protein coding RNA 922 non-coding RNA RNA, long non-coding Approved 16q21 16q21 Lnc-LALC LZTS1 associated LncRNA in CRC Long intergenic non-protein coding RNAs 1986 2013-05-24 2021-03-04 283867 ENSG00000261742 OTTHUMG00000172812 "BC037902|BC104446" NR_027755 "32904382|33637680" LINC00922 HGNC:27545 +HGNC:28088 LINC00923 long intergenic non-protein coding RNA 923 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 Long intergenic non-protein coding RNAs 1986 2013-05-24 2016-09-26 91948 ENSG00000251209 OTTHUMG00000172044 "AK025311|BC105717" NR_024172 LINC00923 HGNC:28088 +HGNC:27081 LINC00924 long intergenic non-protein coding RNA 924 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 Long intergenic non-protein coding RNAs 1986 2013-05-24 2013-05-24 145820 ENSG00000259134 OTTHUMG00000171819 NR_027132 LINC00924 HGNC:27081 +HGNC:27514 LINC00926 long intergenic non-protein coding RNA 926 non-coding RNA RNA, long non-coding Approved 15q21.3 15q21.3 Long intergenic non-protein coding RNAs 1986 2013-05-24 2013-05-24 283663 ENSG00000247982 OTTHUMG00000172641 NR_024433 LINC00926 HGNC:27514 +HGNC:27522 LINC00927 long intergenic non-protein coding RNA 927 non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 Long intergenic non-protein coding RNAs 1986 2013-05-24 2013-05-24 283688 ENSG00000259361 OTTHUMG00000172168 NR_033833 HGNC:27522 +HGNC:27535 LINC00928 long intergenic non-protein coding RNA 928 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Long intergenic non-protein coding RNAs 1986 2013-05-24 2013-05-24 283761 ENSG00000259218 OTTHUMG00000172014 NR_027074 LINC00928 HGNC:27535 +HGNC:48615 LINC00929 long intergenic non-protein coding RNA 929 non-coding RNA RNA, long non-coding Approved 15q12 15q12 Long intergenic non-protein coding RNAs 1986 2013-05-24 2013-05-24 503519 ENSG00000259150 OTTHUMG00000171722 NR_038851 LINC00929 HGNC:48615 +HGNC:48620 LINC00930 long intergenic non-protein coding RNA 930 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Long intergenic non-protein coding RNAs 1986 2013-05-24 2013-05-24 100144604 ENSG00000258647 OTTHUMG00000171742 NR_021493 LINC00930 HGNC:48620 +HGNC:48625 LINC00933 long intergenic non-protein coding RNA 933 non-coding RNA RNA, long non-coding Approved 15q25.2 15q25.2 Long intergenic non-protein coding RNAs 1986 2013-05-29 2013-05-29 100506874 ENSG00000259728 OTTHUMG00000172445 NR_038273 HGNC:48625 +HGNC:27059 LINC00934 long intergenic non-protein coding RNA 934 non-coding RNA RNA, long non-coding Approved 12q24.23 12q24.23 Long intergenic non-protein coding RNAs 1986 2013-05-30 2018-02-07 144742 ENSG00000281196 OTTHUMG00000189518 AK057497 NR_024246 HGNC:27059 +HGNC:48629 LINC00937 long intergenic non-protein coding RNA 937 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 Long intergenic non-protein coding RNAs 1986 2013-05-30 2013-05-30 389634 ENSG00000226091 OTTHUMG00000168663 BC073935 NR_024420 LINC00937 HGNC:48629 +HGNC:48630 LINC00938 long intergenic non-protein coding RNA 938 non-coding RNA RNA, long non-coding Approved 12q12 12q12 Long intergenic non-protein coding RNAs 1986 2013-05-30 2021-11-12 400027 ENSG00000273015 NR_028408 LINC00938 HGNC:48630 +HGNC:48631 LINC00939 long intergenic non-protein coding RNA 939 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2013-05-30 2013-05-30 400084 ENSG00000249267 OTTHUMG00000168492 NR_034132 LINC00939 HGNC:48631 +HGNC:48634 LINC00940 long intergenic non-protein coding RNA 940 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Long intergenic non-protein coding RNAs 1986 2013-05-30 2013-05-30 100271702 ENSG00000235049 OTTHUMG00000168112 "AK316036|DA269488" NR_036546 LINC00940 HGNC:48634 +HGNC:48635 LINC00941 long intergenic non-protein coding RNA 941 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 lncRNA-MUF MSC upregulated factor Long intergenic non-protein coding RNAs 1986 2013-05-30 2019-01-10 100287314 ENSG00000235884 OTTHUMG00000169309 "AK289874|BC072678" NR_040245 "28947421|30622217" LINC00941 HGNC:48635 +HGNC:48636 LINC00942 long intergenic non-protein coding RNA 942 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Long intergenic non-protein coding RNAs 1986 2013-05-30 2018-05-02 100292680 ENSG00000249628 OTTHUMG00000168151 "AK090616|BG332174|BQ942184" NR_028415 LINC00942 HGNC:48636 +HGNC:48639 LINC00943 long intergenic non-protein coding RNA 943 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2013-05-30 2013-05-30 100507206 ENSG00000189238 OTTHUMG00000168479 NR_038256 LINC00943 HGNC:48639 +HGNC:48640 LINC00944 long intergenic non-protein coding RNA 944 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2013-05-30 2013-05-30 387895 ENSG00000256128 OTTHUMG00000168480 "BC040060|DA048939" NR_033878 LINC00944 HGNC:48640 +HGNC:48643 LINC00945 long intergenic non-protein coding RNA 945 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 TCONS_00028834 Long intergenic non-protein coding RNAs 1986 2013-05-21 2013-05-31 101930746 ENSG00000232539 OTTHUMG00000065060 BF204217 NR_104056 LINC00945 HGNC:48643 +HGNC:48662 LINC00951 long intergenic non-protein coding RNA 951 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 "lincRNA-uc003opf.1|FLJ41649" Long intergenic non-protein coding RNAs 1986 2013-06-04 2016-11-24 401260 ENSG00000204092 OTTHUMG00000014658 "AK123643|BC132805" NR_038887 23872665 linc00951 LINC00951 HGNC:48662 +HGNC:48668 LINC00954 long intergenic non-protein coding RNA 954 non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 FLJ12334 Long intergenic non-protein coding RNAs 1986 2013-06-04 2013-06-04 400946 ENSG00000228784 OTTHUMG00000151773 "BC068572|DB155534" NR_033875 LINC00954 HGNC:48668 +HGNC:26644 LINC00955 long intergenic non-protein coding RNA 955 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 FLJ35424 Long intergenic non-protein coding RNAs 1986 2013-06-04 2014-10-07 285492 ENSG00000216560 OTTHUMG00000159817 AK092743 NR_040045 LINC00955 HGNC:26644 +HGNC:22332 LINC00957 long intergenic non-protein coding RNA 957 non-coding RNA RNA, long non-coding Approved 7p13 07p13 Long intergenic non-protein coding RNAs 1986 2013-06-04 2014-11-19 255031 ENSG00000235314 OTTHUMG00000155351 BC014556 NR_015401 LINC00957 HGNC:22332 +HGNC:48671 LINC00958 long intergenic non-protein coding RNA 958 non-coding RNA RNA, long non-coding Approved 11p15.3 11p15.3 Long intergenic non-protein coding RNAs 1986 2013-06-06 2018-07-20 100506305 ENSG00000251381 OTTHUMG00000165904 AK001432 NR_038904 "28341852|29570358" 618335 LINC00958 HGNC:48671 +HGNC:48710 LINC00960 long intergenic non-protein coding RNA 960 non-coding RNA RNA, long non-coding Approved 3p12.3 03p12.3 Long intergenic non-protein coding RNAs 1986 2013-06-06 2013-06-06 401074 ENSG00000242516 OTTHUMG00000158961 NR_040004 LINC00960 HGNC:48710 +HGNC:48716 LINC00963 long intergenic non-protein coding RNA 963 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 MetaLnc9 Long intergenic non-protein coding RNAs 1986 2013-06-07 2018-07-20 100506190 ENSG00000204054 OTTHUMG00000020783 NR_038955 "24691949|28923857|29627834" LINC00963 HGNC:48716 +HGNC:27226 LINC00964 long intergenic non-protein coding RNA 964 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 Long intergenic non-protein coding RNAs 1986 2013-06-07 2013-06-07 157381 ENSG00000249816 OTTHUMG00000165101 NR_027321 12477932 LINC00964 HGNC:27226 +HGNC:28022 LINC00965 long intergenic non-protein coding RNA 965 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Long intergenic non-protein coding RNAs 1986 2013-06-07 2013-06-07 349196 NR_027000 HGNC:28022 +HGNC:48725 LINC00967 long intergenic non-protein coding RNA 967 non-coding RNA RNA, long non-coding Approved 8q13.1 08q13.1 Long intergenic non-protein coding RNAs 1986 2013-06-07 2013-06-07 100505659 ENSG00000253138 OTTHUMG00000164475 NR_039979 LINC00967 HGNC:48725 +HGNC:48727 LINC00968 long intergenic non-protein coding RNA 968 non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 Long intergenic non-protein coding RNAs 1986 2013-06-07 2018-06-08 100507632 ENSG00000246430 OTTHUMG00000164412 NR_038236 "28926089|29805671" LINC00968 HGNC:48727 +HGNC:48730 LINC00970 long intergenic non-protein coding RNA 970 non-coding RNA RNA, long non-coding Approved 1q24.2 01q24.2 Long intergenic non-protein coding RNAs 1986 2013-06-07 2016-11-24 101978719 ENSG00000203601 OTTHUMG00000034588 BC041008 NR_104091 23741487 linc00970 LINC00970 HGNC:48730 +HGNC:48737 LINC00971 long intergenic non-protein coding RNA 971 non-coding RNA RNA, long non-coding Approved 3p12.1 03p12.1 Long intergenic non-protein coding RNAs 1986 2013-06-07 2013-06-07 440970 ENSG00000242641 OTTHUMG00000158981 NR_033860 LINC00971 HGNC:48737 +HGNC:48826 LINC00972 long intergenic non-protein coding RNA 972 non-coding RNA RNA, long non-coding Approved 7q21.11 07q21.11 Long intergenic non-protein coding RNAs 1986 2013-06-14 2020-04-20 105375380 ENSG00000225128 OTTHUMG00000154585 BG220912 NR_134240 LINC00972 HGNC:48826 +HGNC:48868 LINC00973 long intergenic non-protein coding RNA 973 non-coding RNA RNA, long non-coding Approved 3q12.1 03q12.1 CTD-2021J15.2 Long intergenic non-protein coding RNAs 1986 2013-06-19 2020-06-10 100506377 ENSG00000240476 OTTHUMG00000159060 "28796819|29870803" LINC00973 +HGNC:27105 LINC00974 long intergenic non-protein coding RNA 974 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 Long intergenic non-protein coding RNAs 1986 2013-06-19 2018-09-13 147093 ENSG00000226629 OTTHUMG00000133607 NR_038442 25476897 LINC00974 HGNC:27105 +HGNC:50610 LINC00976 long intergenic non-protein coding RNA 976 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 Long intergenic non-protein coding RNAs 1986 2014-05-27 2014-05-27 2017-03-10 106144608 OTTHUMG00000189736 "BF691581|BF691786" NR_145483 HGNC:50610 +HGNC:48902 LINC00977 long intergenic non-protein coding RNA 977 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 Long intergenic non-protein coding RNAs 1986 2013-07-01 2014-06-26 2014-06-26 2020-01-24 728724 OTTHUMG00000164846 NR_033916 LINC00977 HGNC:48902 +HGNC:48911 LINC00987 long intergenic non-protein coding RNA 987 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 Long intergenic non-protein coding RNAs 1986 2013-07-01 2013-07-04 100499405 ENSG00000237248 OTTHUMG00000168332 AK126248 NR_036466 LINC00987 HGNC:48911 +HGNC:48918 LINC00989 long intergenic non-protein coding RNA 989 non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 Long intergenic non-protein coding RNAs 1986 2013-07-05 2013-07-05 100506035 ENSG00000250334 OTTHUMG00000160884 BC047610 NR_038826 LINC00989 HGNC:48918 +HGNC:48943 LINC00992 long intergenic non-protein coding RNA 992 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Long intergenic non-protein coding RNAs 1986 2013-07-18 2013-07-18 728342 ENSG00000248663 OTTHUMG00000162885 BC045192 NR_046089 LINC00992 HGNC:48943 +HGNC:48948 LINC00993 long intergenic non-protein coding RNA 993 non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 TCONS_l2_00002973 Long intergenic non-protein coding RNAs 1986 2013-07-14 2020-04-20 101929520 ENSG00000235687 OTTHUMG00000017971 H39762 NR_104061 31128002 LINC00993 HGNC:48948 +HGNC:48949 LINC00994 long intergenic non-protein coding RNA 994 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 Long intergenic non-protein coding RNAs 1986 2013-07-20 2013-07-23 100287879 ENSG00000189196 OTTHUMG00000158790 NR_033978 LINC00994 HGNC:48949 +HGNC:27800 LINC00996 long intergenic non-protein coding RNA 996 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 Long intergenic non-protein coding RNAs 1986 2013-07-23 2014-11-18 285972 ENSG00000242258 OTTHUMG00000158321 NR_034033 12477932 LINC00996 HGNC:27800 +HGNC:48952 LINC00997 long intergenic non-protein coding RNA 997 non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 Long intergenic non-protein coding RNAs 1986 2013-07-23 2021-03-04 401321 ENSG00000281332 OTTHUMG00000189740 AK127989 NR_036501 33570445 LINC00997 HGNC:48952 +HGNC:38537 LINC00999 long intergenic non-protein coding RNA 999 non-coding RNA RNA, long non-coding Approved 10p11.1 10p11.1 FLJ44672 Long intergenic non-protein coding RNAs 1986 2013-07-23 2015-01-29 399744 AK128746 NR_024497 LINC00999 HGNC:38537 +HGNC:38541 LINC01000 long intergenic non-protein coding RNA 1000 non-coding RNA RNA, long non-coding Approved 7q32.1 07q32.1 FLJ45340 Long intergenic non-protein coding RNAs 1986 2013-07-23 2013-07-23 402483 NR_024368 LINC01000 HGNC:38541 +HGNC:38540 LINC01001 long intergenic non-protein coding RNA 1001 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Long intergenic non-protein coding RNAs 1986 2013-07-23 2013-07-23 100133161 ENSG00000230724 OTTHUMG00000165114 NR_028326 LINC01001 HGNC:38540 +HGNC:38538 LINC01002 long intergenic non-protein coding RNA 1002 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Long intergenic non-protein coding RNAs 1986 2013-07-23 2015-07-24 399844 ENSG00000282508 OTTHUMG00000188608 NR_028324 LINC01002 HGNC:38538 +HGNC:48957 LINC01003 long intergenic non-protein coding RNA 1003 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 Long intergenic non-protein coding RNAs 1986 2013-07-23 2021-04-21 100128822 ENSG00000261455 OTTHUMG00000173415 BC036622 NR_027387 33865032 LINC01003 HGNC:48957 +HGNC:48961 LINC01004 long intergenic non-protein coding RNA 1004 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 Long intergenic non-protein coding RNAs 1986 2013-07-23 2013-07-23 100216546 ENSG00000228393 OTTHUMG00000157278 NR_039981 HGNC:48961 +HGNC:48963 LINC01005 long intergenic non-protein coding RNA 1005 non-coding RNA RNA, long non-coding Approved 7q11.21 07q11.21 Long intergenic non-protein coding RNAs 1986 2013-07-23 2013-07-23 100506050 ENSG00000228564 OTTHUMG00000156482 NR_039987 LINC01005 HGNC:48963 +HGNC:48973 LINC01007 long intergenic non-protein coding RNA 1007 non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 Long intergenic non-protein coding RNAs 1986 2013-07-23 2013-07-23 100506527 ENSG00000233123 OTTHUMG00000157139 NR_103747 LINC01007 HGNC:48973 +HGNC:48978 LINC01010 long intergenic non-protein coding RNA 1010 non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 Long intergenic non-protein coding RNAs 1986 2013-07-24 2013-07-24 154092 ENSG00000236700 OTTHUMG00000015616 NR_038216 LINC01010 HGNC:48978 +HGNC:33812 LINC01011 long intergenic non-protein coding RNA 1011 non-coding RNA RNA, long non-coding Approved 6p25.2 06p25.2 DKFZp686I15217 Long intergenic non-protein coding RNAs 1986 2013-07-24 2014-11-18 401232 ENSG00000244041 OTTHUMG00000014128 NR_026856 LINC01011 HGNC:33812 +HGNC:48986 LINC01012 long intergenic non-protein coding RNA 1012 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Long intergenic non-protein coding RNAs 1986 2013-07-24 2013-07-24 100507173 OTTHUMG00000189539 BC035101 NR_038292 HGNC:48986 +HGNC:48987 LINC01013 long intergenic non-protein coding RNA 1013 non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 Long intergenic non-protein coding RNAs 1986 2013-07-25 2020-06-10 100507254 ENSG00000228495 OTTHUMG00000015574 NR_038981 28331184 LINC01013 HGNC:48987 +HGNC:41353 LINC01014 long intergenic non-protein coding RNA 1014 non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 KCNMB2-IT1 KCNMB2 intronic transcript 1 (non-protein coding) Long intergenic non-protein coding RNAs 1986 2011-05-23 2013-07-25 2013-07-25 2014-11-18 100874330 ENSG00000223941 OTTHUMG00000157288 BX105665 NR_046786 LINC01014 HGNC:41353 +HGNC:48988 LINC01015 long intergenic non-protein coding RNA 1015 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Long intergenic non-protein coding RNAs 1986 2013-07-25 2013-07-25 100507362 ENSG00000224582 OTTHUMG00000065812 NR_037179 LINC01015 HGNC:48988 +HGNC:48991 LINC01016 long intergenic non-protein coding RNA 1016 non-coding RNA RNA, long non-coding Approved 6p21.31 06p21.31 Long intergenic non-protein coding RNAs 1986 2013-07-25 2017-01-06 100507584 ENSG00000249346 OTTHUMG00000166297 AK057709 NR_038989 "26426411|28003470" LINC01016 HGNC:48991 +HGNC:50641 LINC01017 long intergenic non-protein coding RNA 1017 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Long intergenic non-protein coding RNAs 1986 2014-06-02 2018-09-21 102467075 ENSG00000250716 OTTHUMG00000161633 BQ428982 NR_104618 LINC01017 HGNC:50641 +HGNC:27394 LINC01018 long intergenic non-protein coding RNA 1018 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 Long intergenic non-protein coding RNAs 1986 2013-07-26 2020-01-09 255167 ENSG00000250056 OTTHUMG00000161680 NR_024424 31896749 616385 LINC01018 HGNC:27394 +HGNC:27742 LINC01019 long intergenic non-protein coding RNA 1019 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Long intergenic non-protein coding RNAs 1986 2013-07-26 2013-07-26 285577 ENSG00000248118 OTTHUMG00000161629 NR_033898 12477932 LINC01019 HGNC:27742 +HGNC:27968 LINC01020 long intergenic non-protein coding RNA 1020 non-coding RNA RNA, long non-coding Approved 5p15.32 05p15.32 Long intergenic non-protein coding RNAs 1986 2013-07-26 2013-07-26 340094 ENSG00000215231 OTTHUMG00000161653 NR_026994 12477932 LINC01020 HGNC:27968 +HGNC:48998 LINC01022 long intergenic non-protein coding RNA 1022 non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 TCONS_00013107 Long intergenic non-protein coding RNAs 1986 2013-07-29 2013-07-29 105375616 ENSG00000232715 OTTHUMG00000152648 DB518621 NR_132379 LINC01022 HGNC:48998 +HGNC:49004 LINC01023 long intergenic non-protein coding RNA 1023 non-coding RNA RNA, long non-coding Approved 5q21.3 05q21.3 Long intergenic non-protein coding RNAs 1986 2013-07-30 2016-12-09 100652853 ENSG00000272523 OTTHUMG00000185544 BF972671 NR_046368 LINC01023 HGNC:49004 +HGNC:49014 LINC01028 long intergenic non-protein coding RNA 1028 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 TCONS_00025127 Long intergenic non-protein coding RNAs 1986 2013-08-08 2013-08-08 101928141 ENSG00000267603 OTTHUMG00000180348 BX647864 NR_104129 LINC01028 HGNC:49014 +HGNC:49015 LINC01029 long intergenic non-protein coding RNA 1029 non-coding RNA RNA, long non-coding Approved 18q23 18q23 Long intergenic non-protein coding RNAs 1986 2013-08-08 2013-08-08 101927715 ENSG00000265843 OTTHUMG00000179393 "BC016792|BF183892" NR_104127 LINC01029 HGNC:49015 +HGNC:49016 LINC01030 long intergenic non-protein coding RNA 1030 non-coding RNA RNA, long non-coding Approved 8q21.3 08q21.3 TCONS_00015085 Long intergenic non-protein coding RNAs 1986 2013-08-08 2013-08-08 2014-02-12 101937451 ENSG00000253799 OTTHUMG00000163970 BU568440 NR_104062 LINC01030 HGNC:49016 +HGNC:49017 LINC01031 long intergenic non-protein coding RNA 1031 non-coding RNA RNA, long non-coding Approved 1q31.2 01q31.2 TCONS_00000361 Long intergenic non-protein coding RNAs 1986 2013-08-08 2013-08-08 101929184 ENSG00000232077 OTTHUMG00000035686 BX100123 NR_125789 LINC01031 HGNC:49017 +HGNC:49019 LINC01033 long intergenic non-protein coding RNA 1033 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Long intergenic non-protein coding RNAs 1986 2013-08-08 2013-08-08 104355136 ENSG00000249069 OTTHUMG00000162286 BG181707 NR_126379 LINC01033 HGNC:49019 +HGNC:49021 LINC01034 long intergenic non-protein coding RNA 1034 non-coding RNA RNA, long non-coding Approved 13q22.2 13q22.2 TCONS_00021570 Long intergenic non-protein coding RNAs 1986 2013-08-08 2013-08-08 106144601 ENSG00000224933 OTTHUMG00000017095 BG183202 LINC01034 +HGNC:49022 LINC01035 long intergenic non-protein coding RNA 1035 non-coding RNA RNA, long non-coding Approved 1q31.1 01q31.1 Long intergenic non-protein coding RNAs 1986 2013-08-09 2013-08-09 106144592 ENSG00000226486 OTTHUMG00000035542 BQ212312 NR_174955 LINC01035 +HGNC:49024 LINC01036 long intergenic non-protein coding RNA 1036 non-coding RNA RNA, long non-coding Approved 1q31.1 01q31.1 Long intergenic non-protein coding RNAs 1986 2013-08-09 2020-01-24 104169671 ENSG00000230426 OTTHUMG00000035513 BU171718 NR_126347 LINC01036 HGNC:49024 +HGNC:49025 LINC01037 long intergenic non-protein coding RNA 1037 non-coding RNA RNA, long non-coding Approved 1q31.1 01q31.1 Long intergenic non-protein coding RNAs 1986 2013-08-09 2020-01-24 106144535 OTTHUMG00000035479 BG182723 NR_132374 LINC01037 HGNC:49025 +HGNC:49026 LINC01038 long intergenic non-protein coding RNA 1038 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 Long intergenic non-protein coding RNAs 1986 2013-08-09 2013-08-09 102724076 ENSG00000229011 OTTHUMG00000017137 AI799053 NR_125785 LINC01038 HGNC:49026 +HGNC:49027 LINC01039 long intergenic non-protein coding RNA 1039 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 Long intergenic non-protein coding RNAs 1986 2013-08-09 2013-08-09 104355149 ENSG00000234168 OTTHUMG00000017273 BI464824 NR_126390 LINC01039 HGNC:49027 +HGNC:49028 LINC01040 long intergenic non-protein coding RNA 1040 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 TCONS_00021682 Long intergenic non-protein coding RNAs 1986 2013-08-13 2013-08-13 105370308 ENSG00000226037 OTTHUMG00000017177 BG192883 NR_131228 LINC01040 HGNC:49028 +HGNC:49031 LINC01043 long intergenic non-protein coding RNA 1043 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2013-08-13 2013-08-13 101928752 ENSG00000260343 OTTHUMG00000176083 BX649107 NR_135321 LINC01043 HGNC:49031 +HGNC:49032 LINC01044 long intergenic non-protein coding RNA 1044 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2013-08-13 2013-08-13 104266956 ENSG00000223626 OTTHUMG00000017366 BG722997 NR_126345 LINC01044 HGNC:49032 +HGNC:49040 LINC01046 long intergenic non-protein coding RNA 1046 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 Long intergenic non-protein coding RNAs 1986 2013-08-15 2013-08-15 103689843 ENSG00000233405 OTTHUMG00000016533 AW117237 NR_125745 LINC01046 HGNC:49040 +HGNC:49041 LINC01047 long intergenic non-protein coding RNA 1047 non-coding RNA RNA, long non-coding Approved 13q31.2 13q31.2 Long intergenic non-protein coding RNAs 1986 2013-08-15 2013-08-15 105616982 ENSG00000232225 OTTHUMG00000017173 BG183515 NR_131229 LINC01047 HGNC:49041 +HGNC:49042 LINC01048 long intergenic non-protein coding RNA 1048 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 Long intergenic non-protein coding RNAs 1986 2013-08-15 2013-08-15 103695431 ENSG00000230390 OTTHUMG00000016750 BX091314 NR_125762 LINC01048 HGNC:49042 +HGNC:49043 LINC01049 long intergenic non-protein coding RNA 1049 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 Long intergenic non-protein coding RNAs 1986 2013-08-15 2014-02-14 101927224 ENSG00000234384 OTTHUMG00000017184 BI825411 NR_120414 LINC01049 HGNC:49043 +HGNC:49044 LINC01050 long intergenic non-protein coding RNA 1050 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 Long intergenic non-protein coding RNAs 1986 2013-08-15 2013-08-15 103689845 ENSG00000271216 OTTHUMG00000184191 CD367180 NR_125747 LINC01050 HGNC:49044 +HGNC:49046 LINC01052 long intergenic non-protein coding RNA 1052 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 Long intergenic non-protein coding RNAs 1986 2013-08-15 2013-08-15 105370242 ENSG00000234767 OTTHUMG00000017032 AA889679 NR_132362 LINC01052 HGNC:49046 +HGNC:49047 LINC01053 long intergenic non-protein coding RNA 1053 non-coding RNA RNA, long non-coding Approved 13q12.13 13q12.13 Long intergenic non-protein coding RNAs 1986 2013-08-15 2020-04-20 102723318 ENSG00000238169 OTTHUMG00000016605 NR_120427 LINC01053 HGNC:49047 +HGNC:49048 LINC01054 long intergenic non-protein coding RNA 1054 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2013-08-15 2013-08-15 104355150 ENSG00000229723 OTTHUMG00000017405 BG460330 NR_126391 LINC01054 HGNC:49048 +HGNC:49049 LINC01055 long intergenic non-protein coding RNA 1055 non-coding RNA RNA, long non-coding Approved 13q14.13 13q14.13 Long intergenic non-protein coding RNAs 1986 2013-08-15 2013-08-15 103752581 ENSG00000235366 OTTHUMG00000016859 BG431110 NR_125786 LINC01055 HGNC:49049 +HGNC:49050 LINC01056 long intergenic non-protein coding RNA 1056 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Long intergenic non-protein coding RNAs 1986 2013-08-16 2013-08-16 100144597 ENSG00000237119 OTTHUMG00000032954 BC038718 NR_033369 LINC01056 HGNC:49050 +HGNC:49061 LINC01058 long intergenic non-protein coding RNA 1058 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2013-08-20 2013-08-20 103724387 ENSG00000225039 OTTHUMG00000055981 CF138692 NR_125771 LINC01058 HGNC:49061 +HGNC:49081 LINC01060 long intergenic non-protein coding RNA 1060 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 Long intergenic non-protein coding RNAs 1986 2013-08-23 2018-06-20 401164 ENSG00000249378 OTTHUMG00000160242 NR_033869 29913236 LINC01060 HGNC:49081 +HGNC:49084 LINC01061 long intergenic non-protein coding RNA 1061 non-coding RNA RNA, long non-coding Approved 4q26 04q26 FLJ14186 Long intergenic non-protein coding RNAs 1986 2013-08-23 2013-08-23 401149 NR_037596 HGNC:49084 +HGNC:49092 LINC01063 long intergenic non-protein coding RNA 1063 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2013-09-02 2013-09-02 101929769 ENSG00000232065 OTTHUMG00000155570 NR_132101 LINC01063 HGNC:49092 +HGNC:49103 LINC01065 long intergenic non-protein coding RNA 1065 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 Long intergenic non-protein coding RNAs 1986 2013-09-02 2013-09-02 102723875 ENSG00000237092 OTTHUMG00000016983 AW303400 NR_125788 LINC01065 HGNC:49103 +HGNC:49104 LINC01066 long intergenic non-protein coding RNA 1066 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 Long intergenic non-protein coding RNAs 1986 2013-09-02 2013-09-02 106144544 ENSG00000230403 OTTHUMG00000016684 AA644401 LINC01066 +HGNC:49105 LINC01067 long intergenic non-protein coding RNA 1067 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 Long intergenic non-protein coding RNAs 1986 2013-09-02 2013-09-02 107080624 ENSG00000236053 OTTHUMG00000017336 BF969615 LINC01067 +HGNC:49106 LINC01068 long intergenic non-protein coding RNA 1068 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 Long intergenic non-protein coding RNAs 1986 2013-09-02 2013-09-02 103724388 ENSG00000227676 OTTHUMG00000017135 AI138787 NR_125772 LINC01068 HGNC:49106 +HGNC:49109 LINC01069 long intergenic non-protein coding RNA 1069 non-coding RNA RNA, long non-coding Approved 13q22.3 13q22.3 Long intergenic non-protein coding RNAs 1986 2013-09-03 2013-09-03 101927176 ENSG00000236133 OTTHUMG00000017112 BI825933 NR_108076 LINC01069 HGNC:49109 +HGNC:49110 LINC01070 long intergenic non-protein coding RNA 1070 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2013-09-03 2013-09-03 101928698 ENSG00000260102 OTTHUMG00000176078 CR627049 NR_108094 LINC01070 HGNC:49110 +HGNC:49112 LINC01072 long intergenic non-protein coding RNA 1072 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 Long intergenic non-protein coding RNAs 1986 2013-09-05 2013-09-05 104355137 ENSG00000236076 OTTHUMG00000016506 AI150015 NR_126380 LINC01072 HGNC:49112 +HGNC:49117 LINC01074 long intergenic non-protein coding RNA 1074 non-coding RNA RNA, long non-coding Approved 13q21.31 13q21.31 Long intergenic non-protein coding RNAs 1986 2013-09-05 2013-09-05 106144607 ENSG00000227611 OTTHUMG00000017016 BF057195 NR_149075 LINC01074 HGNC:49117 +HGNC:49118 LINC01075 long intergenic non-protein coding RNA 1075 non-coding RNA RNA, long non-coding Approved 13q21.31 13q21.31 Long intergenic non-protein coding RNAs 1986 2013-09-05 2013-09-05 103752583 ENSG00000230142 OTTHUMG00000017017 AI028357 NR_125787 LINC01075 HGNC:49118 +HGNC:49119 LINC01076 long intergenic non-protein coding RNA 1076 non-coding RNA RNA, long non-coding Approved 13q12.13 13q12.13 Long intergenic non-protein coding RNAs 1986 2013-09-05 2013-09-05 106144602 ENSG00000225105 OTTHUMG00000016599 BG190398 LINC01076 +HGNC:49120 LINC01077 long intergenic non-protein coding RNA 1077 non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 Long intergenic non-protein coding RNAs 1986 2013-09-05 2013-09-05 107080621 ENSG00000233456 OTTHUMG00000016904 AI769787 NR_170268 LINC01077 +HGNC:49121 LINC01078 long intergenic non-protein coding RNA 1078 non-coding RNA RNA, long non-coding Approved 13q22.2 13q22.2 Long intergenic non-protein coding RNAs 1986 2013-09-05 2016-11-24 106144536 ENSG00000223880 OTTHUMG00000017086 AA442466 NR_132375 LINC01078 HGNC:49121 +HGNC:49122 LINC01079 long intergenic non-protein coding RNA 1079 non-coding RNA RNA, long non-coding Approved 13q12.2 13q12.2 Long intergenic non-protein coding RNAs 1986 2013-09-05 2013-09-05 106146146 ENSG00000229609 OTTHUMG00000016631 BM503984 LINC01079 +HGNC:49123 LINC01080 long intergenic non-protein coding RNA 1080 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 TCONS_00021856 Long intergenic non-protein coding RNAs 1986 2013-09-05 2017-10-26 101515984 ENSG00000281721 OTTHUMG00000189563 DA225206 NR_104138 25019275 615230 HGNC:49123 +HGNC:49124 LINC01081 long intergenic non-protein coding RNA 1081 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 TCONS_00024764 Long intergenic non-protein coding RNAs 1986 2013-09-05 2017-01-04 101154687 ENSG00000268754 OTTHUMG00000183865 "CR737045|HY035025" NR_104139 24842713 614977 LINC01081 HGNC:49124 +HGNC:49125 LINC01082 long intergenic non-protein coding RNA 1082 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 TCONS_00024492 Long intergenic non-protein coding RNAs 1986 2013-09-05 2013-09-05 100506542 ENSG00000269186 OTTHUMG00000183863 "AA399680|AI676062" NR_103859 614978 LINC01082 HGNC:49125 +HGNC:27198 LINC01085 long intergenic non-protein coding RNA 1085 non-coding RNA RNA, long non-coding Approved 4p15.33 04p15.33 Long intergenic non-protein coding RNAs 1986 2013-09-16 2013-09-16 152742 ENSG00000248698 OTTHUMG00000160101 AK055518 NR_033931 LINC01085 HGNC:27198 +HGNC:49144 LINC01087 long intergenic non-protein coding RNA 1087 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 Long intergenic non-protein coding RNAs 1986 2013-09-19 2020-01-29 101927994 ENSG00000224559 OTTHUMG00000153621 BC036114 NR_108087 31989062 LINC01087 HGNC:49144 +HGNC:49148 LINC01088 long intergenic non-protein coding RNA 1088 non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 Long intergenic non-protein coding RNAs 1986 2013-09-19 2013-09-19 100505875 ENSG00000249307 OTTHUMG00000160858 NR_038342 LINC01088 HGNC:49148 +HGNC:27886 LINC01089 long intergenic non-protein coding RNA 1089 non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 "LIMT|AK096174" long non coding RNA inhibiting metastasis Long intergenic non-protein coding RNAs 1986 2014-01-21 2018-09-13 338799 ENSG00000212694 OTTHUMG00000128905 BC038786 NR_002809 "26252651|27485121" MGI:2140910 LINC01089 HGNC:27886 +HGNC:49201 LINC01090 long intergenic non-protein coding RNA 1090 non-coding RNA RNA, long non-coding Approved 2q32.1 02q32.1 Long intergenic non-protein coding RNAs 1986 2013-10-07 2013-10-07 104355152 ENSG00000231689 OTTHUMG00000154285 DA863615 NR_126396 24080187 LINC01090 HGNC:49201 +HGNC:27721 LINC01091 long intergenic non-protein coding RNA 1091 non-coding RNA RNA, long non-coding Approved 4q28.1 04q28.1 Long intergenic non-protein coding RNAs 1986 2013-10-08 2013-10-08 285419 ENSG00000249464 OTTHUMG00000161162 BC053945 NR_027105 12477932 LINC01091 HGNC:27721 +HGNC:49218 LINC01093 long intergenic non-protein coding RNA 1093 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 Long intergenic non-protein coding RNAs 1986 2013-10-09 2020-02-13 100506229 ENSG00000249173 OTTHUMG00000160603 NR_039975 32044992 LINC01093 HGNC:49218 +HGNC:49219 LINC01094 long intergenic non-protein coding RNA 1094 non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 CTEPHA1 "lncRNA CTEPH-associated 1|chronic thromboembolic pulmonary hypertension RNA" Long intergenic non-protein coding RNAs 1986 2013-10-09 2019-06-19 100505702 ENSG00000251442 OTTHUMG00000160897 NR_038303 "29568943|31204374" LINC01094 HGNC:49219 +HGNC:49220 LINC01095 long intergenic non-protein coding RNA 1095 non-coding RNA RNA, long non-coding Approved 4q31.22 04q31.22 Long intergenic non-protein coding RNAs 1986 2013-10-09 2013-10-09 100505545 ENSG00000248809 OTTHUMG00000161439 NR_038331 LINC01095 HGNC:49220 +HGNC:27739 LINC01096 long intergenic non-protein coding RNA 1096 non-coding RNA RNA, long non-coding Approved 4p15.33 04p15.33 Long intergenic non-protein coding RNAs 1986 2013-10-09 2013-10-09 285548 ENSG00000246095 OTTHUMG00000160090 NR_015450 12477932 LINC01096 HGNC:27739 +HGNC:27738 LINC01097 long intergenic non-protein coding RNA 1097 non-coding RNA RNA, long non-coding Approved 4p15.33 04p15.33 Long intergenic non-protein coding RNAs 1986 2013-10-09 2013-10-09 285547 ENSG00000281202 OTTHUMG00000189540 BC035722 NR_034054 LINC01097 HGNC:27738 +HGNC:27731 LINC01098 long intergenic non-protein coding RNA 1098 non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 Long intergenic non-protein coding RNAs 1986 2013-10-09 2014-10-01 285501 ENSG00000231171 OTTHUMG00000160724 BC033326 NR_028342 LINC01098 HGNC:27731 +HGNC:49222 LINC01099 long intergenic non-protein coding RNA 1099 non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 Long intergenic non-protein coding RNAs 1986 2013-10-09 2013-10-09 101928656 ENSG00000251504 OTTHUMG00000160725 BU071468 NR_108092 LINC01099 HGNC:49222 +HGNC:49224 LINC01100 long intergenic non-protein coding RNA 1100 non-coding RNA RNA, long non-coding Approved 3q25.33 03q25.33 Long intergenic non-protein coding RNAs 1986 2013-10-09 2014-10-01 730109 ENSG00000242107 OTTHUMG00000158954 NR_104132 LINC01100 HGNC:49224 +HGNC:25923 LINC01101 long intergenic non-protein coding RNA 1101 non-coding RNA RNA, long non-coding Approved 2q14.2 02q14.2 FLJ14816 Long intergenic non-protein coding RNAs 1986 2013-10-10 2017-08-09 84931 ENSG00000280409 OTTHUMG00000187117 AK027722 NR_027181 28767188 LINC01101 HGNC:25923 +HGNC:27165 LINC01102 long intergenic non-protein coding RNA 1102 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 Long intergenic non-protein coding RNAs 1986 2013-10-10 2014-11-18 150568 ENSG00000235597 OTTHUMG00000153050 NR_015399 LINC01102 HGNC:27165 +HGNC:49225 LINC01103 long intergenic non-protein coding RNA 1103 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 Long intergenic non-protein coding RNAs 1986 2013-10-10 2013-10-10 101927360 ENSG00000234781 OTTHUMG00000153051 NR_110113 LINC01103 HGNC:49225 +HGNC:49226 LINC01104 long intergenic non-protein coding RNA 1104 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 Long intergenic non-protein coding RNAs 1986 2013-10-10 2013-10-10 150577 ENSG00000232084 OTTHUMG00000153132 NR_103730 LINC01104 HGNC:49226 +HGNC:26769 LINC01106 long intergenic non-protein coding RNA 1106 non-coding RNA RNA, long non-coding Approved 2q13 02q13 FLJ38359 Long intergenic non-protein coding RNAs 1986 2013-10-10 2021-09-23 151009 ENSG00000175772 OTTHUMG00000155034 NR_027244 34550549 LINC01106 HGNC:26769 +HGNC:49229 LINC01107 long intergenic non-protein coding RNA 1107 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2013-10-10 2013-10-10 151171 ENSG00000225493 OTTHUMG00000152849 NR_037809 LINC01107 HGNC:49229 +HGNC:49234 LINC01108 long intergenic non-protein coding RNA 1108 non-coding RNA RNA, long non-coding Approved 6p23 06p23 LncRNA-ES1 lncrna embryonic stem cell 1 Long intergenic non-protein coding RNAs 1986 2013-10-11 2017-02-16 102216342 ENSG00000226673 OTTHUMG00000014285 AK056826 NR_108096 "22193719|27940106" LINC01108 HGNC:49234 +HGNC:49235 LINC01109 long intergenic non-protein coding RNA 1109 non-coding RNA RNA, long non-coding Approved 8q21.11 08q21.11 lncRNA-N1 lncRNA neuronal 1 Long intergenic non-protein coding RNAs 1986 2013-10-11 2013-10-11 102216341 ENSG00000271167 OTTHUMG00000184925 AK124684 NR_170172 +HGNC:49237 LINC01111 long intergenic non-protein coding RNA 1111 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 Long intergenic non-protein coding RNAs 1986 2013-10-11 2016-10-05 101926978 ENSG00000254300 OTTHUMG00000164553 NR_105006 HGNC:49237 +HGNC:49245 LINC01114 long intergenic non-protein coding RNA 1114 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 "PANCAT|LOC284998" pancreatic cancer associated transcript Long intergenic non-protein coding RNAs 1986 2013-10-14 2013-12-17 284998 ENSG00000234177 OTTHUMG00000153066 NR_038231 LINC01114 HGNC:49245 +HGNC:49258 LINC01115 long intergenic non-protein coding RNA 1115 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 Long intergenic non-protein coding RNAs 1986 2013-10-14 2013-10-14 339822 ENSG00000237667 OTTHUMG00000151368 NR_033880 LINC01115 HGNC:49258 +HGNC:49259 LINC01116 long intergenic non-protein coding RNA 1116 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 TALNEC2 Tumor associated lncRNA expressed in chromosome 2 Long intergenic non-protein coding RNAs 1986 2013-10-14 2017-04-26 375295 ENSG00000163364 OTTHUMG00000154156 NR_040001 "28131897|28423669" LINC01116 HGNC:49259 +HGNC:49260 LINC01117 long intergenic non-protein coding RNA 1117 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Long intergenic non-protein coding RNAs 1986 2013-10-14 2013-10-14 102724224 ENSG00000224577 OTTHUMG00000154157 NR_110599 LINC01117 HGNC:49260 +HGNC:49261 LINC01118 long intergenic non-protein coding RNA 1118 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Long intergenic non-protein coding RNAs 1986 2013-10-14 2014-10-01 388948 ENSG00000222005 OTTHUMG00000153080 NR_034099 HGNC:49261 +HGNC:49262 LINC01119 long intergenic non-protein coding RNA 1119 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Long intergenic non-protein coding RNAs 1986 2013-10-14 2014-10-01 100134259 ENSG00000239332 OTTHUMG00000153081 NR_024452 HGNC:49262 +HGNC:49265 LINC01120 long intergenic non-protein coding RNA 1120 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 Long intergenic non-protein coding RNAs 1986 2013-10-14 2013-10-14 389043 ENSG00000223631 OTTHUMG00000153602 NR_036499 LINC01120 HGNC:49265 +HGNC:49266 LINC01121 long intergenic non-protein coding RNA 1121 non-coding RNA RNA, long non-coding Approved 2p21 02p21 UNQ6975 Long intergenic non-protein coding RNAs 1986 2013-10-14 2018-06-08 400952 ENSG00000205054 OTTHUMG00000152484 NR_033831 29843149 LINC01121 HGNC:49266 +HGNC:49267 LINC01122 long intergenic non-protein coding RNA 1122 non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 "FLJ30838|AC007092.1" Long intergenic non-protein coding RNAs 1986 2013-10-14 2017-09-28 400955 ENSG00000233723 OTTHUMG00000152613 NR_033873 25959816 LINC01122 HGNC:49267 +HGNC:49269 LINC01123 long intergenic non-protein coding RNA 1123 non-coding RNA RNA, long non-coding Approved 2q13 02q13 Long intergenic non-protein coding RNAs 1986 2013-10-14 2021-09-22 440894 ENSG00000204588 OTTHUMG00000154954 NR_046110 34475974 LINC01123 HGNC:49269 +HGNC:49270 LINC01124 long intergenic non-protein coding RNA 1124 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Long intergenic non-protein coding RNAs 1986 2013-10-14 2020-02-28 440925 ENSG00000222033 OTTHUMG00000154054 NR_027433 32099381 LINC01124 HGNC:49270 +HGNC:49275 LINC01126 long intergenic non-protein coding RNA 1126 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Long intergenic non-protein coding RNAs 1986 2013-10-15 2018-02-07 100129726 ENSG00000279873 OTTHUMG00000152397 "BC032412|CR738297" NR_027251 HGNC:49275 +HGNC:49292 LINC01127 long intergenic non-protein coding RNA 1127 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 Long intergenic non-protein coding RNAs 1986 2013-10-15 2017-10-26 100506328 ENSG00000281162 OTTHUMG00000189566 "DB124570|DB153872" NR_103791 HGNC:49292 +HGNC:49377 LINC01128 long intergenic non-protein coding RNA 1128 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 RP11-206L10.11 Long intergenic non-protein coding RNAs 1986 2013-10-21 2022-02-24 643837 ENSG00000228794 OTTHUMG00000002468 NR_047519 35193567 HGNC:49377 +HGNC:49444 LINC01132 long intergenic non-protein coding RNA 1132 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 Long intergenic non-protein coding RNAs 1986 2013-12-03 2013-12-03 100506810 ENSG00000227630 OTTHUMG00000038017 AK125357 NR_038856 LINC01132 HGNC:49444 +HGNC:49447 LINC01133 long intergenic non-protein coding RNA 1133 non-coding RNA RNA, long non-coding Approved 1q23.2 01q23.2 lncRNA-PAGBC prognosis-associated gallbladder cancer lncRNA Long intergenic non-protein coding RNAs 1986 2013-12-03 2017-09-21 100505633 ENSG00000224259 OTTHUMG00000024077 NR_038849 "25908174|28390115|28887321" LINC01133 HGNC:49447 +HGNC:49449 LINC01134 long intergenic non-protein coding RNA 1134 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2013-12-03 2022-02-22 100133612 ENSG00000236423 OTTHUMG00000041129 NR_024455 35173610 LINC01134 HGNC:49449 +HGNC:49450 LINC01135 long intergenic non-protein coding RNA 1135 non-coding RNA RNA, long non-coding Approved 1p32.1 01p32.1 Long intergenic non-protein coding RNAs 1986 2013-12-03 2013-12-03 100131060 ENSG00000234807 OTTHUMG00000008377 NR_034014 LINC01135 HGNC:49450 +HGNC:49454 LINC01138 long intergenic non-protein coding RNA 1138 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 FLJ39739 LINC00875 long intergenic non-protein coding RNA 875 Long intergenic non-protein coding RNAs 1986 2013-12-03 2018-07-20 388685 ENSG00000274020 OTTHUMG00000185296 NR_027468 "27556357|29679004" LINC01138 HGNC:49454 +HGNC:27924 LINC01139 long intergenic non-protein coding RNA 1139 non-coding RNA RNA, long non-coding Approved 1q43 01q43 "LINK-A|TCONS_00000027" long intergenic non-coding RNA for kinase activation Long intergenic non-protein coding RNAs 1986 2013-12-03 2017-07-05 339535 ENSG00000215808 OTTHUMG00000039532 NR_015407 "28218907|26975198" LINC01139 HGNC:27924 +HGNC:27922 LINC01140 long intergenic non-protein coding RNA 1140 non-coding RNA RNA, long non-coding Approved 1p22.3 01p22.3 FLJ41676 Long intergenic non-protein coding RNAs 1986 2013-12-03 2021-10-11 339524 ENSG00000267272 OTTHUMG00000181765 AK123670 NR_026985 "28444881|34587432" LINC01140 HGNC:27922 +HGNC:49455 LINC01141 long intergenic non-protein coding RNA 1141 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 Long intergenic non-protein coding RNAs 1986 2013-12-03 2013-12-03 339505 ENSG00000236963 OTTHUMG00000002842 NR_033887 LINC01141 HGNC:49455 +HGNC:49456 LINC01142 long intergenic non-protein coding RNA 1142 non-coding RNA RNA, long non-coding Approved 1q24.2 01q24.2 Long intergenic non-protein coding RNAs 1986 2013-12-03 2022-03-30 284688 ENSG00000224286 OTTHUMG00000035969 NR_026957 MGI:5580206 LINC01142 HGNC:49456 +HGNC:49458 LINC01143 long intergenic non-protein coding RNA 1143 non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 Long intergenic non-protein coding RNAs 1986 2013-12-05 2013-12-05 104355141 ENSG00000237751 OTTHUMG00000153230 BX088774 NR_126384 LINC01143 HGNC:49458 +HGNC:49460 LINC01144 long intergenic non-protein coding RNA 1144 non-coding RNA RNA, long non-coding Approved 1p34.1 01p34.1 TCONS_00000513 Long intergenic non-protein coding RNAs 1986 2013-12-06 2018-02-07 400752 ENSG00000281912 OTTHUMG00000189536 BC006119 NR_024270 HGNC:49460 +HGNC:49462 LINC01145 long intergenic non-protein coding RNA 1145 non-coding RNA RNA, long non-coding Approved 1q21.1 01q21.1 Long intergenic non-protein coding RNAs 1986 2018-06-06 2018-06-06 103091866 ENSG00000272419 OTTHUMG00000041632 BC023516 NR_111954 HGNC:49462 +HGNC:49468 LINC01147 long intergenic non-protein coding RNA 1147 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 Long intergenic non-protein coding RNAs 1986 2018-11-28 2018-11-28 101928791 ENSG00000258826 OTTHUMG00000170739 NR_110121 HGNC:49468 +HGNC:27507 LINC01148 long intergenic non-protein coding RNA 1148 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 LOC283585 Long intergenic non-protein coding RNAs 1986 2016-11-14 2016-11-14 283585 ENSG00000258804 OTTHUMG00000171357 NR_038445 HGNC:27507 +HGNC:39757 LINC01149 long intergenic non-protein coding RNA 1149 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 XXbac-BPG181B23.4 Long intergenic non-protein coding RNAs 1986 2013-12-10 2013-12-10 101929111 ENSG00000230174 OTTHUMG00000133747 NR_144465 LINC01149 HGNC:39757 +HGNC:49469 LINC01150 long intergenic non-protein coding RNA 1150 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 "2G7|TCONS_00019134" Long intergenic non-protein coding RNAs 1986 2013-12-11 2013-12-11 101927624 ENSG00000229671 OTTHUMG00000150032 "L38282|U62668" NR_120534 8968746 LINC01150 HGNC:49469 +HGNC:49471 LINC01151 long intergenic non-protein coding RNA 1151 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 Long intergenic non-protein coding RNAs 1986 2013-12-11 2013-12-11 104266958 ENSG00000253819 OTTHUMG00000165076 DB186869 NR_126348 LINC01151 HGNC:49471 +HGNC:16752 LINC01152 long intergenic non-protein coding RNA 1152 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 "TCONS_00025128|CMPD|RP11-84E24.3" Long intergenic non-protein coding RNAs 1986 2013-12-11 2020-11-09 102606463 ENSG00000256124 OTTHUMG00000168039 "D43770|DB072529" NR_110124 "8789441|29084806" LINC01152 HGNC:16752 +HGNC:49495 LINC01153 long intergenic non-protein coding RNA 1153 non-coding RNA RNA, long non-coding Approved 10q26.12 10q26.12 Long intergenic non-protein coding RNAs 1986 2013-12-20 2013-12-20 101927889 ENSG00000227143 OTTHUMG00000019173 XR_246197 LINC01153 HGNC:49495 +HGNC:49504 LINC01154 long intergenic non-protein coding RNA 1154 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Long intergenic non-protein coding RNAs 1986 2014-01-02 2014-01-02 106144575 ENSG00000257477 OTTHUMG00000169932 AA082317 24344320 LINC01154 +HGNC:49512 LINC01157 long intergenic non-protein coding RNA 1157 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 "TCONS_00010378|linc-Enc1" Long intergenic non-protein coding RNAs 1986 2014-01-01 2017-01-27 105379037 24381249 MGI:3780541 618214 HGNC:49512 +HGNC:49514 LINC01159 long intergenic non-protein coding RNA 1159 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 linc-Brn1b Long intergenic non-protein coding RNAs 1986 2014-01-01 2014-01-03 2014-01-03 2014-01-03 102682016 ENSG00000229743 OTTHUMG00000153064 AK095498 NR_110373 24381249 618208 LINC01159 HGNC:49514 +HGNC:49525 LINC01160 long intergenic non-protein coding RNA 1160 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Long intergenic non-protein coding RNAs 1986 2014-01-03 2014-01-03 100129269 ENSG00000231346 OTTHUMG00000011958 BG742401 NR_034126 LINC01160 HGNC:49525 +HGNC:49528 LINC01162 long intergenic non-protein coding RNA 1162 non-coding RNA RNA, long non-coding Approved 7p15.3 07p15.3 Long intergenic non-protein coding RNAs 1986 2014-01-07 2014-01-07 104355138 ENSG00000232790 OTTHUMG00000152589 CN412322 NR_126381 LINC01162 HGNC:49528 +HGNC:49530 LINC01163 long intergenic non-protein coding RNA 1163 non-coding RNA RNA, long non-coding Approved 10q26.2 10q26.2 TCONS_00017722 Long intergenic non-protein coding RNAs 1986 2014-01-08 2018-12-10 101927381 ENSG00000280953 OTTHUMG00000189527 AK124226 XR_242761 HGNC:49530 +HGNC:49533 LINC01164 long intergenic non-protein coding RNA 1164 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Long intergenic non-protein coding RNAs 1986 2014-01-08 2014-01-08 399827 ENSG00000189275 OTTHUMG00000186599 NR_038365 LINC01164 HGNC:49533 +HGNC:49534 LINC01165 long intergenic non-protein coding RNA 1165 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Long intergenic non-protein coding RNAs 1986 2014-01-08 2014-01-08 100128830 ENSG00000229081 OTTHUMG00000019291 AK097584 XR_252837 LINC01165 HGNC:49534 +HGNC:49535 LINC01166 long intergenic non-protein coding RNA 1166 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Long intergenic non-protein coding RNAs 1986 2014-01-08 2014-01-08 101927590 ENSG00000232903 OTTHUMG00000019299 AK095503 XR_242766 LINC01166 HGNC:49535 +HGNC:49536 LINC01167 long intergenic non-protein coding RNA 1167 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 TCONS_00018075 Long intergenic non-protein coding RNAs 1986 2014-01-08 2014-01-08 103695432 ENSG00000224758 OTTHUMG00000019300 BI753673 NR_125763 LINC01167 HGNC:49536 +HGNC:49537 LINC01168 long intergenic non-protein coding RNA 1168 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Long intergenic non-protein coding RNAs 1986 2014-01-08 2014-01-08 399829 ENSG00000240707 OTTHUMG00000157745 NR_046231 LINC01168 HGNC:49537 +HGNC:49541 LINC01169 long intergenic non-protein coding RNA 1169 non-coding RNA RNA, long non-coding Approved 15q22.31 15q22.31 Long intergenic non-protein coding RNAs 1986 2014-01-10 2014-10-07 102723165 ENSG00000259471 OTTHUMG00000172242 "AK096135|BC016970" NR_110372 LINC01169 HGNC:49541 +HGNC:49542 LINC01170 long intergenic non-protein coding RNA 1170 non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Long intergenic non-protein coding RNAs 1986 2014-01-10 2016-11-24 103724389 ENSG00000253807 OTTHUMG00000163624 "N72756|AA215598" NR_125774 MGI:5439411 LINC01170 HGNC:49542 +HGNC:49545 LINC01173 long intergenic non-protein coding RNA 1173 non-coding RNA RNA, long non-coding Approved 2q37.1-q37.2 02q37.1-q37.2 TCONS_00004057 Long intergenic non-protein coding RNAs 1986 2014-01-13 2018-02-13 106144537 ENSG00000280744 OTTHUMG00000189551 BF185848 NR_132376 HGNC:49545 +HGNC:49548 LINC01176 long intergenic non-protein coding RNA 1176 non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 Long intergenic non-protein coding RNAs 1986 2014-01-10 2018-02-07 100506516 ENSG00000281404 OTTHUMG00000189554 BM981427 NR_108081 HGNC:49548 +HGNC:49549 LINC01177 long intergenic non-protein coding RNA 1177 non-coding RNA RNA, long non-coding Approved 16p13.2 16p13.2 Long intergenic non-protein coding RNAs 1986 2014-01-13 2016-11-24 104355218 ENSG00000261397 OTTHUMG00000177056 AA725682 NR_126397 LINC01177 HGNC:49549 +HGNC:49556 LINC01179 long intergenic non-protein coding RNA 1179 non-coding RNA RNA, long non-coding Approved 4q32.3 04q32.3 Long intergenic non-protein coding RNAs 1986 2014-01-14 2014-01-14 101928151 ENSG00000249500 OTTHUMG00000161098 BX648971 NR_121676 LINC01179 HGNC:49556 +HGNC:49558 LINC01180 long intergenic non-protein coding RNA 1180 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Long intergenic non-protein coding RNAs 1986 2014-01-14 2014-01-14 101927017 ENSG00000266979 OTTHUMG00000181821 BC043289 NR_110661 LINC01180 HGNC:49558 +HGNC:25533 LINC01181 long intergenic non-protein coding RNA 1181 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 FLJ10489 Long intergenic non-protein coding RNAs 1986 2014-01-14 2014-11-19 379034 ENSG00000250929 OTTHUMG00000164764 AK001351 NR_145429 LINC01181 HGNC:25533 +HGNC:49564 LINC01182 long intergenic non-protein coding RNA 1182 non-coding RNA RNA, long non-coding Approved 4p15.33 04p15.33 Long intergenic non-protein coding RNAs 1986 2014-01-14 2014-01-14 101929071 ENSG00000250634 OTTHUMG00000160104 DB054622 NR_121681 LINC01182 HGNC:49564 +HGNC:49573 LINC01186 long intergenic non-protein coding RNA 1186 non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 ZNF674-1 Long intergenic non-protein coding RNAs 1986 2014-01-17 2018-06-08 101927574 ENSG00000236751 OTTHUMG00000021416 BC015977 NR_110388 28119085 LINC01186 HGNC:49573 +HGNC:49575 LINC01187 long intergenic non-protein coding RNA 1187 non-coding RNA RNA, long non-coding Approved 5q35.1 05q35.1 KIDR kidney-specific RNA Long intergenic non-protein coding RNAs 1986 2014-01-11 2014-01-17 100507267 ENSG00000249601 OTTHUMG00000163086 AK055811 NR_108022 LINC01187 HGNC:49575 +HGNC:49592 LINC01189 long intergenic non-protein coding RNA 1189 non-coding RNA RNA, long non-coding Approved 9q13 09q13 Long intergenic non-protein coding RNAs 1986 2014-01-20 2016-10-05 643648 ENSG00000232827 OTTHUMG00000058150 NR_046203 LINC01189 HGNC:49592 +HGNC:49595 LINC01191 long intergenic non-protein coding RNA 1191 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 "VIN|lnc-ACTR3" virus inducible lincRNa Long intergenic non-protein coding RNAs 1986 2014-01-20 2014-07-18 440900 ENSG00000234199 OTTHUMG00000153529 AW016224 NR_034128 24440876 LINC01191 HGNC:49595 +HGNC:37197 LINC01192 long intergenic non-protein coding RNA 1192 non-coding RNA RNA, long non-coding Approved 3q26.1 03q26.1 CT64 cancer/testis antigen 64 Long intergenic non-protein coding RNAs 1986 2012-11-30 2014-01-21 2014-01-21 2014-01-21 647107 ENSG00000241369 OTTHUMG00000158021 BX103208 NR_033945 15905330 LINC01192 HGNC:37197 +HGNC:28003 LINC01193 long intergenic non-protein coding RNA 1193 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 LOC348120 CT60 cancer/testis antigen 60 Long intergenic non-protein coding RNAs 1986 2012-11-30 2014-01-21 2014-01-21 2014-01-21 348120 ENSG00000258710 OTTHUMG00000171709 BC047459 NR_040094 15905330 LINC01193 HGNC:28003 +HGNC:37171 LINC01194 long intergenic non-protein coding RNA 1194 non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 TAG tumor antigen gene CT49 cancer/testis antigen 49 Long intergenic non-protein coding RNAs 1986 2012-11-30 2014-01-21 2014-01-21 2014-01-21 404663 ENSG00000248131 OTTHUMG00000161760 NR_033383 14871852 617097 LINC01194 HGNC:37171 +HGNC:49550 LINC01195 long intergenic non-protein coding RNA 1195 non-coding RNA RNA, long non-coding Approved 16p13.2 16p13.2 Long intergenic non-protein coding RNAs 1986 2014-01-15 2014-01-21 104266959 ENSG00000261075 OTTHUMG00000177057 CR748468 NR_126349 LINC01195 HGNC:49550 +HGNC:49598 LINC01198 long intergenic non-protein coding RNA 1198 non-coding RNA RNA, long non-coding Approved 13q14.13 13q14.13 Long intergenic non-protein coding RNAs 1986 2014-01-21 2018-03-08 101929344 ENSG00000231817 OTTHUMG00000016875 BC046635 NR_120426 27764782 LINC01198 HGNC:49598 +HGNC:49632 LINC01201 long intergenic non-protein coding RNA 1201 non-coding RNA RNA, long non-coding Approved Xq26.1 Xq26.1 TCONS_00017091 Long intergenic non-protein coding RNAs 1986 2014-01-24 2014-01-28 104266960 ENSG00000228659 OTTHUMG00000022403 AA418797 NR_126350 LINC01201 HGNC:49632 +HGNC:49633 LINC01202 long intergenic non-protein coding RNA 1202 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Long intergenic non-protein coding RNAs 1986 2014-01-24 2017-10-26 104326188 ENSG00000280776 OTTHUMG00000189552 BI755689 NR_126372 24463510 HGNC:49633 +HGNC:49634 LINC01203 long intergenic non-protein coding RNA 1203 non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 Long intergenic non-protein coding RNAs 1986 2014-01-28 2014-01-28 100133123 ENSG00000226985 OTTHUMG00000021151 NR_045260 LINC01203 HGNC:49634 +HGNC:49635 LINC01204 long intergenic non-protein coding RNA 1204 non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 Long intergenic non-protein coding RNAs 1986 2014-01-28 2014-01-28 101927528 ENSG00000229563 OTTHUMG00000021406 NR_104644 LINC01204 HGNC:49635 +HGNC:49636 LINC01205 long intergenic non-protein coding RNA 1205 non-coding RNA RNA, long non-coding Approved 3q13.13 03q13.13 Long intergenic non-protein coding RNAs 1986 2014-01-28 2014-01-28 401082 ENSG00000228980 OTTHUMG00000159217 NR_109841 LINC01205 HGNC:49636 +HGNC:49637 LINC01206 long intergenic non-protein coding RNA 1206 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 Long intergenic non-protein coding RNAs 1986 2014-01-28 2014-01-28 100996490 ENSG00000242512 OTTHUMG00000158238 NR_104146 LINC01206 HGNC:49637 +HGNC:49639 LINC01208 long intergenic non-protein coding RNA 1208 non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 Long intergenic non-protein coding RNAs 1986 2014-01-28 2014-01-28 100505547 ENSG00000223715 OTTHUMG00000157218 NR_109968 LINC01208 HGNC:49639 +HGNC:49640 LINC01209 long intergenic non-protein coding RNA 1209 non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 Long intergenic non-protein coding RNAs 1986 2014-01-28 2014-01-28 101928684 ENSG00000228308 OTTHUMG00000157300 BC041880 NR_110819 LINC01209 HGNC:49640 +HGNC:49642 LINC01210 long intergenic non-protein coding RNA 1210 non-coding RNA RNA, long non-coding Approved 3q22.3 03q22.3 Long intergenic non-protein coding RNAs 1986 2014-01-28 2014-01-28 100507274 ENSG00000239513 OTTHUMG00000159758 NR_109987 LINC01210 HGNC:49642 +HGNC:49648 LINC01213 long intergenic non-protein coding RNA 1213 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Long intergenic non-protein coding RNAs 1986 2014-01-28 2014-01-28 101927992 ENSG00000244541 OTTHUMG00000159737 NR_110167 LINC01213 HGNC:49648 +HGNC:49650 LINC01214 long intergenic non-protein coding RNA 1214 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Long intergenic non-protein coding RNAs 1986 2014-01-28 2014-01-28 101928022 ENSG00000243550 OTTHUMG00000159735 NR_110186 LINC01214 HGNC:49650 +HGNC:49651 LINC01215 long intergenic non-protein coding RNA 1215 non-coding RNA RNA, long non-coding Approved 3q13.12 03q13.12 Long intergenic non-protein coding RNAs 1986 2014-01-28 2014-01-28 101929623 ENSG00000271856 OTTHUMG00000185591 NR_110028 LINC01215 HGNC:49651 +HGNC:41418 LINC01216 long intergenic non-protein coding RNA 1216 non-coding RNA RNA, long non-coding Approved 4q24 04q24 EMCN-IT3 EMCN intronic transcript 3 (non-protein coding) Long intergenic non-protein coding RNAs 1986 2011-05-24 2014-01-29 2014-01-29 2016-11-24 100874275 ENSG00000250223 OTTHUMG00000161053 NR_046811 LINC01216 HGNC:41418 +HGNC:41419 LINC01217 long intergenic non-protein coding RNA 1217 non-coding RNA RNA, long non-coding Approved 4q24 04q24 EMCN-IT2 EMCN intronic transcript 2 (non-protein coding) Long intergenic non-protein coding RNAs 1986 2011-05-24 2014-01-29 2014-01-29 2014-11-18 100874276 ENSG00000251219 OTTHUMG00000161750 NR_046812 LINC01217 +HGNC:41420 LINC01218 long intergenic non-protein coding RNA 1218 non-coding RNA RNA, long non-coding Approved 4q24 04q24 EMCN-IT1 EMCN intronic transcript 1 (non-protein coding) Long intergenic non-protein coding RNAs 1986 2011-05-24 2014-01-29 2014-01-29 2014-11-19 107986233 ENSG00000251636 OTTHUMG00000161011 LINC01218 HGNC:41420 +HGNC:49653 LINC01219 long intergenic non-protein coding RNA 1219 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Long intergenic non-protein coding RNAs 1986 2014-01-25 2016-11-24 104355220 ENSG00000232987 OTTHUMG00000012473 BX092271 NR_126400 LINC01219 HGNC:49653 +HGNC:49664 LINC01220 long intergenic non-protein coding RNA 1220 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Long intergenic non-protein coding RNAs 1986 2014-01-31 2014-01-31 731223 ENSG00000259687 OTTHUMG00000171867 NR_038421 LINC01220 HGNC:49664 +HGNC:49671 LINC01221 long intergenic non-protein coding RNA 1221 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 TCONS_00000366 Long intergenic non-protein coding RNAs 1986 2014-02-04 2016-11-24 104266961 ENSG00000235492 OTTHUMG00000035893 BG613973 NR_126351 LINC01221 HGNC:49671 +HGNC:49672 LINC01222 long intergenic non-protein coding RNA 1222 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 TCONS_00000112 Long intergenic non-protein coding RNAs 1986 2014-02-04 2016-11-24 102800316 ENSG00000233410 OTTHUMG00000035892 BC040869 NR_110525 HGNC:49672 +HGNC:49676 LINC01224 long intergenic non-protein coding RNA 1224 non-coding RNA RNA, long non-coding Approved 19p12 19p12 Long intergenic non-protein coding RNAs 1986 2014-02-04 2020-01-09 104472717 ENSG00000269416 OTTHUMG00000183272 NR_126448 31902747 LINC01224 HGNC:49676 +HGNC:49678 LINC01226 long intergenic non-protein coding RNA 1226 non-coding RNA RNA, long non-coding Approved 1p35.2 01p35.2 Long intergenic non-protein coding RNAs 1986 2014-02-04 2017-02-17 284551 ENSG00000284543 NR_027085 LINC01226 HGNC:49678 +HGNC:49680 LINC01227 long intergenic non-protein coding RNA 1227 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 Long intergenic non-protein coding RNAs 1986 2014-02-05 2014-02-05 101928276 ENSG00000260737 OTTHUMG00000176267 NR_104665 LINC01227 HGNC:49680 +HGNC:49681 LINC01228 long intergenic non-protein coding RNA 1228 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 lincRNA-DYNLRB2-2 Long intergenic non-protein coding RNAs 1986 2014-02-01 2014-02-05 104266962 ENSG00000261082 OTTHUMG00000176977 BM973870 NR_170199 24493833 LINC01228 +HGNC:49682 LINC01229 long intergenic non-protein coding RNA 1229 non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 TCONS_00024480 Long intergenic non-protein coding RNAs 1986 2014-10-23 2014-10-23 101928248 ENSG00000260876 OTTHUMG00000176975 NR_104661 LINC01229 HGNC:49682 +HGNC:49686 LINC01230 long intergenic non-protein coding RNA 1230 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 "linc-DMRT2|lnc-DRMT2|TCONS_00015639" Long intergenic non-protein coding RNAs 1986 2014-02-04 2016-11-24 102800446 ENSG00000281769 OTTHUMG00000189515 AK055761 NR_110643 24504737 HGNC:49686 +HGNC:49688 LINC01231 long intergenic non-protein coding RNA 1231 non-coding RNA RNA, long non-coding Approved 9p24.2 09p24.2 Long intergenic non-protein coding RNAs 1986 2014-02-12 2014-02-12 101929247 ENSG00000236511 OTTHUMG00000019454 BC041456 NR_121585 LINC01231 HGNC:49688 +HGNC:49755 LINC01232 long intergenic non-protein coding RNA 1232 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 "FLJ41590|TCONS_00021520" Long intergenic non-protein coding RNAs 1986 2014-02-14 2020-04-20 102725509 ENSG00000280734 OTTHUMG00000189525 AK123584 NR_110731 24522499 HGNC:49755 +HGNC:49756 LINC01233 long intergenic non-protein coding RNA 1233 non-coding RNA RNA, long non-coding Approved 19p12 19p12 XLOC_013014 Long intergenic non-protein coding RNAs 1986 2014-02-14 2014-02-14 100128139 ENSG00000269364 OTTHUMG00000182980 DB454962 NR_110663 24522499 LINC01233 HGNC:49756 +HGNC:49757 LINC01234 long intergenic non-protein coding RNA 1234 non-coding RNA RNA, long non-coding Approved 12q24.13 12q24.13 onco-lncRNA-32 Long intergenic non-protein coding RNAs 1986 2014-02-14 2017-10-06 100506465 ENSG00000249550 OTTHUMG00000169644 NR_110026 "24522499|28484081|28978132" LINC01234 HGNC:49757 +HGNC:49769 LINC01235 long intergenic non-protein coding RNA 1235 non-coding RNA RNA, long non-coding Approved 9p23 09p23 FLJ41200 Long intergenic non-protein coding RNAs 1986 2014-02-14 2014-02-14 401492 ENSG00000270547 OTTHUMG00000185076 AK123194 NR_033863 LINC01235 HGNC:49769 +HGNC:49793 LINC01237 long intergenic non-protein coding RNA 1237 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2014-02-20 2014-02-20 101927289 ENSG00000233806 OTTHUMG00000151343 NR_110220 LINC01237 HGNC:49793 +HGNC:49795 LINC01238 long intergenic non-protein coding RNA 1238 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 FLJ40615 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 102723927 ENSG00000237940 OTTHUMG00000151373 NR_110592 HGNC:49795 +HGNC:49796 LINC01239 long intergenic non-protein coding RNA 1239 non-coding RNA RNA, long non-coding Approved 9p21.3 09p21.3 Long intergenic non-protein coding RNAs 1986 2014-02-21 2014-02-21 441389 ENSG00000234840 OTTHUMG00000019696 "AK092601|AA205910" NR_038977 LINC01239 HGNC:49796 +HGNC:49804 LINC01241 long intergenic non-protein coding RNA 1241 non-coding RNA RNA, long non-coding Approved 9p21.2 09p21.2 Long intergenic non-protein coding RNAs 1986 2014-03-06 2018-02-07 101929582 ENSG00000236306 OTTHUMG00000019705 BC043546 NR_121604 HGNC:49804 +HGNC:49810 LINC01242 long intergenic non-protein coding RNA 1242 non-coding RNA RNA, long non-coding Approved 9p21.1 09p21.1 Long intergenic non-protein coding RNAs 1986 2014-03-06 2017-10-26 401497 ENSG00000280683 OTTHUMG00000189587 NR_046204 LINC01242 HGNC:49810 +HGNC:49814 LINC01243 long intergenic non-protein coding RNA 1243 non-coding RNA RNA, long non-coding Approved 9p21.1 09p21.1 Long intergenic non-protein coding RNAs 1986 2014-03-06 2014-03-06 101929620 ENSG00000260720 OTTHUMG00000175494 BC040892 NR_135134 LINC01243 HGNC:49814 +HGNC:49840 LINC01246 long intergenic non-protein coding RNA 1246 non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 Long intergenic non-protein coding RNAs 1986 2014-06-01 2014-06-12 102800315 OTTHUMG00000151631 BX096693 NR_110498 HGNC:49840 +HGNC:49841 LINC01247 long intergenic non-protein coding RNA 1247 non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 Long intergenic non-protein coding RNAs 1986 2014-03-13 2014-03-13 101929390 ENSG00000227007 OTTHUMG00000151457 NR_110251 LINC01247 HGNC:49841 +HGNC:49842 LINC01248 long intergenic non-protein coding RNA 1248 non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 Long intergenic non-protein coding RNAs 1986 2014-03-13 2014-03-13 102723818 ENSG00000224128 OTTHUMG00000151424 BX111928 NR_110580 LINC01248 HGNC:49842 +HGNC:49843 LINC01249 long intergenic non-protein coding RNA 1249 non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 Long intergenic non-protein coding RNAs 1986 2014-03-13 2014-03-13 727982 ENSG00000231532 OTTHUMG00000151581 "AK307324|BC047589" NR_034134 LINC01249 HGNC:49843 +HGNC:49844 LINC01250 long intergenic non-protein coding RNA 1250 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 FLJ37991 Long intergenic non-protein coding RNAs 1986 2014-03-13 2014-03-13 101927554 ENSG00000234423 OTTHUMG00000151427 AK095310 NR_110228 LINC01250 HGNC:49844 +HGNC:27888 LINC01252 long intergenic non-protein coding RNA 1252 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 Long intergenic non-protein coding RNAs 1986 2014-03-18 2014-03-18 338817 ENSG00000247157 OTTHUMG00000168537 NR_033890 12477932 LINC01252 HGNC:27888 +HGNC:49870 LINC01254 long intergenic non-protein coding RNA 1254 non-coding RNA RNA, long non-coding Approved 18p11.22 18p11.22 Long intergenic non-protein coding RNAs 1986 2014-03-18 2014-03-18 101927350 ENSG00000260913 OTTHUMG00000176120 NR_110775 LINC01254 HGNC:49870 +HGNC:49871 LINC01255 long intergenic non-protein coding RNA 1255 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 Long intergenic non-protein coding RNAs 1986 2014-03-18 2014-03-18 101927433 ENSG00000267252 OTTHUMG00000180596 NR_110778 LINC01255 HGNC:49871 +HGNC:49895 LINC01256 long intergenic non-protein coding RNA 1256 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 TCONS_l2_00021715 Long intergenic non-protein coding RNAs 1986 2014-03-18 2014-03-18 104355285 ENSG00000251398 OTTHUMG00000161768 BX088800 NR_126401 LINC01256 HGNC:49895 +HGNC:26972 LINC01257 long intergenic non-protein coding RNA 1257 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Long intergenic non-protein coding RNAs 1986 2014-03-20 2014-03-20 116437 ENSG00000204603 OTTHUMG00000168350 BC112214 NR_026670 LINC01257 HGNC:26972 +HGNC:49898 LINC01258 long intergenic non-protein coding RNA 1258 non-coding RNA RNA, long non-coding Approved 4p14 04p14 Long intergenic non-protein coding RNAs 1986 2014-03-20 2014-03-20 101928776 ENSG00000249534 OTTHUMG00000160414 NR_110951 LINC01258 HGNC:49898 +HGNC:49899 LINC01259 long intergenic non-protein coding RNA 1259 non-coding RNA RNA, long non-coding Approved 4p14 04p14 TCONS_00007515 Long intergenic non-protein coding RNAs 1986 2014-03-20 2014-03-20 106144599 ENSG00000249667 OTTHUMG00000160486 CR984336 NR_149076 LINC01259 HGNC:49899 +HGNC:49900 LINC01260 long intergenic non-protein coding RNA 1260 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 Long intergenic non-protein coding RNAs 1986 2014-03-20 2017-06-28 79015 ENSG00000283440 OTTHUMG00000032542 BC000849 NR_034104 HGNC:49900 +HGNC:50275 LINC01262 long intergenic non-protein coding RNA 1262 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 "TCONS_l2_00021807|RP11-462G22.1" Long intergenic non-protein coding RNAs 1986 2014-03-20 2014-03-24 101928971 ENSG00000250739 OTTHUMG00000160329 BC092460 NR_121679 24651478 LINC01262 HGNC:50275 +HGNC:50282 LINC01264 long intergenic non-protein coding RNA 1264 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 RP11-124O11.2 Long intergenic non-protein coding RNAs 1986 2014-03-27 2014-03-31 104266963 ENSG00000229630 OTTHUMG00000018022 BE644626 NR_126352 24672800 LINC01264 HGNC:50282 +HGNC:50297 LINC01265 long intergenic non-protein coding RNA 1265 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 Long intergenic non-protein coding RNAs 1986 2014-04-03 2017-02-17 101926904 NR_104631 LINC01265 HGNC:50297 +HGNC:50309 LINC01266 long intergenic non-protein coding RNA 1266 non-coding RNA RNA, long non-coding Approved 3p26.3 03p26.3 Long intergenic non-protein coding RNAs 1986 2014-04-07 2014-04-07 101927215 ENSG00000224957 OTTHUMG00000154876 NR_110118 LINC01266 HGNC:50309 +HGNC:50320 LINC01267 long intergenic non-protein coding RNA 1267 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 Long intergenic non-protein coding RNAs 1986 2014-04-07 2014-04-07 101927565 ENSG00000251576 OTTHUMG00000167093 NR_110135 LINC01267 HGNC:50320 +HGNC:50325 LINC01269 long intergenic non-protein coding RNA 1269 non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-04-15 103695436 ENSG00000258689 OTTHUMG00000171248 DA437066 NR_125769 LINC01269 HGNC:50325 +HGNC:27658 LINC01270 long intergenic non-protein coding RNA 1270 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-11-18 284751 ENSG00000203999 OTTHUMG00000032719 AK090605 NR_034124 LINC01270 HGNC:27658 +HGNC:50327 LINC01271 long intergenic non-protein coding RNA 1271 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Long intergenic non-protein coding RNAs 1986 2014-04-15 2022-03-24 101927586 ENSG00000233077 OTTHUMG00000032720 NR_109950 LINC01271 HGNC:50327 +HGNC:50329 LINC01273 long intergenic non-protein coding RNA 1273 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-04-15 101927541 ENSG00000231742 OTTHUMG00000032718 NR_109943 LINC01273 HGNC:50329 +HGNC:50331 LINC01275 long intergenic non-protein coding RNA 1275 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Long intergenic non-protein coding RNAs 1986 2018-11-28 2018-11-28 101927512 ENSG00000237595 OTTHUMG00000032717 BI858028 XR_001754716 HGNC:50331 +HGNC:50333 LINC01276 long intergenic non-protein coding RNA 1276 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-04-15 103106903 ENSG00000226917 OTTHUMG00000067927 DQ141194 NR_120347 LINC01276 HGNC:50333 +HGNC:50334 LINC01277 long intergenic non-protein coding RNA 1277 non-coding RNA RNA, long non-coding Approved 6q24.2 06q24.2 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-04-15 100507489 ENSG00000229017 OTTHUMG00000015718 NR_038987 LINC01277 HGNC:50334 +HGNC:28090 LINC01278 long intergenic non-protein coding RNA 1278 non-coding RNA RNA, long non-coding Approved Xq11.1 Xq11.1 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-04-15 92249 ENSG00000235437 OTTHUMG00000021699 NR_015353 LINC01278 HGNC:28090 +HGNC:50336 LINC01280 long intergenic non-protein coding RNA 1280 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-04-15 101928232 ENSG00000224391 OTTHUMG00000155340 AK307257 NR_110392 LINC01280 HGNC:50336 +HGNC:50337 LINC01281 long intergenic non-protein coding RNA 1281 non-coding RNA RNA, long non-coding Approved Xp11.4 Xp11.4 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-04-15 286442 ENSG00000235304 OTTHUMG00000024095 NR_038968 LINC01281 HGNC:50337 +HGNC:50338 LINC01282 long intergenic non-protein coding RNA 1282 non-coding RNA RNA, long non-coding Approved Xp11.4 Xp11.4 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-04-15 101927449 ENSG00000236747 OTTHUMG00000024096 BC043536 NR_110385 LINC01282 HGNC:50338 +HGNC:50339 LINC01283 long intergenic non-protein coding RNA 1283 non-coding RNA RNA, long non-coding Approved Xp11.4 Xp11.4 Long intergenic non-protein coding RNAs 1986 2018-11-28 2018-11-28 107985711 ENSG00000234191 OTTHUMG00000024097 HGNC:50339 +HGNC:50342 LINC01284 long intergenic non-protein coding RNA 1284 non-coding RNA RNA, long non-coding Approved Xp11.22 Xp11.22 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-04-15 101926971 ENSG00000230317 OTTHUMG00000021529 NR_110382 LINC01284 HGNC:50342 +HGNC:50344 LINC01285 long intergenic non-protein coding RNA 1285 non-coding RNA RNA, long non-coding Approved Xq24 Xq24 Long intergenic non-protein coding RNAs 1986 2014-04-15 2014-10-07 101928287 ENSG00000203650 OTTHUMG00000022260 NR_110393 LINC01285 HGNC:50344 +HGNC:50351 LINC01287 long intergenic non-protein coding RNA 1287 non-coding RNA RNA, long non-coding Approved 7q36.2 07q36.2 TCONS_l2_00027522 Long intergenic non-protein coding RNAs 1986 2014-04-17 2019-07-12 103724390 ENSG00000234722 OTTHUMG00000151464 BF514057 NR_125776 31173295 LINC01287 HGNC:50351 +HGNC:50353 LINC01288 long intergenic non-protein coding RNA 1288 non-coding RNA RNA, long non-coding Approved 8p12 08p12 TCONS_00014671 Long intergenic non-protein coding RNAs 1986 2014-04-17 2014-04-17 103689844 ENSG00000254344 OTTHUMG00000163964 DB066514 NR_125746 LINC01288 HGNC:50353 +HGNC:50354 LINC01289 long intergenic non-protein coding RNA 1289 non-coding RNA RNA, long non-coding Approved 8q12.3 08q12.3 Long intergenic non-protein coding RNAs 1986 2014-04-17 2014-04-17 286184 ENSG00000253734 OTTHUMG00000164399 BC037345 NR_038875 LINC01289 HGNC:50354 +HGNC:50356 LINC01290 long intergenic non-protein coding RNA 1290 non-coding RNA RNA, long non-coding Approved 16p13.13 16p13.13 Long intergenic non-protein coding RNAs 1986 2014-04-17 2014-04-17 106144584 ENSG00000260468 OTTHUMG00000177103 "BF853722|BI010826" NR_149081 LINC01290 HGNC:50356 +HGNC:50358 LINC01291 long intergenic non-protein coding RNA 1291 non-coding RNA RNA, long non-coding Approved 2p12 02p12 Long intergenic non-protein coding RNAs 1986 2014-04-23 2014-04-23 102724515 ENSG00000204792 OTTHUMG00000152932 CV382059 NR_125792 HGNC:50358 +HGNC:50362 LINC01293 long intergenic non-protein coding RNA 1293 non-coding RNA RNA, long non-coding Approved 2p12 02p12 "TCONS_00002938|AC104135.4" Long intergenic non-protein coding RNAs 1986 2014-04-23 2017-09-28 101927861 ENSG00000230836 OTTHUMG00000152931 HGNC:50362 +HGNC:50443 LINC01297 long intergenic non-protein coding RNA 1297 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Long intergenic non-protein coding RNAs 1986 2014-04-29 2019-09-04 115694671 ENSG00000274827 OTTHUMG00000170514 NR_164166 LINC01297 HGNC:50443 +HGNC:32292 LINC01298 long intergenic non-protein coding RNA 1298 non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 C8orf69 chromosome 8 open reading frame 69 Long intergenic non-protein coding RNAs 1986 2005-09-22 2014-04-29 2014-04-29 2014-04-29 619344 ENSG00000253351 OTTHUMG00000164662 AA469917 NR_046232 LINC01298 HGNC:32292 +HGNC:27839 LINC01299 long intergenic non-protein coding RNA 1299 non-coding RNA RNA, long non-coding Approved 8q13.1 08q13.1 Long intergenic non-protein coding RNAs 1986 2014-04-30 2014-04-30 286186 ENSG00000254081 OTTHUMG00000164373 AK094960 NR_033893 LINC01299 HGNC:27839 +HGNC:50460 LINC01300 long intergenic non-protein coding RNA 1300 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 Long intergenic non-protein coding RNAs 1986 2014-04-30 2014-04-30 731779 ENSG00000253595 OTTHUMG00000164482 NR_024441 LINC01300 HGNC:50460 +HGNC:50464 LINC01301 long intergenic non-protein coding RNA 1301 non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 Long intergenic non-protein coding RNAs 1986 2014-04-30 2014-04-30 100505532 ENSG00000251396 OTTHUMG00000165326 NR_103854 LINC01301 HGNC:50464 +HGNC:50470 LINC01303 long intergenic non-protein coding RNA 1303 non-coding RNA RNA, long non-coding Approved 14q23.1 14q23.1 Long intergenic non-protein coding RNAs 1986 2017-11-03 2017-11-03 101927780 ENSG00000250548 OTTHUMG00000171534 NR_110416 HGNC:50470 +HGNC:50472 LINC01304 long intergenic non-protein coding RNA 1304 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 Long intergenic non-protein coding RNAs 1986 2014-04-30 2014-04-30 100505964 ENSG00000237401 OTTHUMG00000151486 NR_037881 LINC01304 HGNC:50472 +HGNC:27690 LINC01305 long intergenic non-protein coding RNA 1305 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Long intergenic non-protein coding RNAs 1986 2014-04-30 2014-11-18 285084 ENSG00000231453 OTTHUMG00000154148 NR_038897 LINC01305 HGNC:27690 +HGNC:50494 LINC01307 long intergenic non-protein coding RNA 1307 non-coding RNA RNA, long non-coding Approved 1p21.2 01p21.2 RP11-157N3.1 Long intergenic non-protein coding RNAs 1986 2014-05-09 2014-05-09 104355286 ENSG00000231671 OTTHUMG00000010834 BG203915 NR_126402 LINC01307 HGNC:50494 +HGNC:50497 LINC01309 long intergenic non-protein coding RNA 1309 non-coding RNA RNA, long non-coding Approved 13q33.1 13q33.1 TCONS_l2_00007459 Long intergenic non-protein coding RNAs 1986 2014-05-09 2014-05-09 104326190 ENSG00000234551 OTTHUMG00000017314 AA421210 NR_126374 LINC01309 HGNC:50497 +HGNC:50501 LINC01310 long intergenic non-protein coding RNA 1310 non-coding RNA RNA, long non-coding Approved 22q13.32 22q13.32 WI2-81516E3.1 Long intergenic non-protein coding RNAs 1986 2014-05-12 2017-06-21 100128946 ENSG00000205632 OTTHUMG00000150307 AK056844 NR_038944 LINC01310 HGNC:50501 +HGNC:50503 LINC01311 long intergenic non-protein coding RNA 1311 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long intergenic non-protein coding RNAs 1986 2014-05-12 2014-05-12 100652736 ENSG00000260924 OTTHUMG00000172740 NR_103767 LINC01311 HGNC:50503 +HGNC:28525 LINC01312 long intergenic non-protein coding RNA 1312 non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 MGC34034 Long intergenic non-protein coding RNAs 1986 2014-05-13 2014-05-13 154089 ENSG00000223586 OTTHUMG00000015606 NR_027030 12477932 LINC01312 HGNC:28525 +HGNC:50513 LINC01315 long intergenic non-protein coding RNA 1315 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 "lnc-C22orf32-1|C22orf32-1" Long intergenic non-protein coding RNAs 1986 2014-05-15 2017-07-18 102723775 ENSG00000229891 OTTHUMG00000150696 BC038245 NR_120595 28588717 LINC01315 HGNC:50513 +HGNC:50523 LINC01317 long intergenic non-protein coding RNA 1317 non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 Long intergenic non-protein coding RNAs 1986 2014-05-19 2020-01-24 104355287 OTTHUMG00000152138 BQ213083 NR_126403 24833871 LINC01317 HGNC:50523 +HGNC:50524 LINC01318 long intergenic non-protein coding RNA 1318 non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 Long intergenic non-protein coding RNAs 1986 2014-05-19 2014-05-19 106144585 ENSG00000237790 OTTHUMG00000152139 DB027554 NR_132381 LINC01318 HGNC:50524 +HGNC:50526 LINC01320 long intergenic non-protein coding RNA 1320 non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 Long intergenic non-protein coding RNAs 1986 2014-05-19 2020-01-24 104355288 ENSG00000228262 OTTHUMG00000152144 "BX395998|BI759570" NR_126404 LINC01320 HGNC:50526 +HGNC:50528 LINC01322 long intergenic non-protein coding RNA 1322 non-coding RNA RNA, long non-coding Approved 3q26.1 03q26.1 Long intergenic non-protein coding RNAs 1986 2014-05-14 2014-05-20 103695433 ENSG00000244128 OTTHUMG00000158130 "DA224933|DA156477" NR_125764 LINC01322 HGNC:50528 +HGNC:50529 LINC01323 long intergenic non-protein coding RNA 1323 non-coding RNA RNA, long non-coding Approved 3q26.1 03q26.1 TCONS_00005874 Long intergenic non-protein coding RNAs 1986 2014-05-20 2015-08-26 106635527 ENSG00000241636 OTTHUMG00000158384 BG192479 LINC01323 +HGNC:50530 LINC01324 long intergenic non-protein coding RNA 1324 non-coding RNA RNA, long non-coding Approved 3q26.1 03q26.1 Long intergenic non-protein coding RNAs 1986 2014-05-20 2014-05-20 104355289 ENSG00000241767 OTTHUMG00000158064 BG221042 NR_126405 LINC01324 HGNC:50530 +HGNC:50532 LINC01326 long intergenic non-protein coding RNA 1326 non-coding RNA RNA, long non-coding Approved 3q26.1 03q26.1 TCONS_00005878 Long intergenic non-protein coding RNAs 1986 2014-05-20 2014-05-20 106144540 ENSG00000244321 OTTHUMG00000158209 BG190199 LINC01326 +HGNC:50533 LINC01327 long intergenic non-protein coding RNA 1327 non-coding RNA RNA, long non-coding Approved 3q26.1 03q26.1 TCONS_00005644 Long intergenic non-protein coding RNAs 1986 2014-05-20 2014-05-20 104310350 ENSG00000241669 OTTHUMG00000158284 BF059162 NR_126353 LINC01327 HGNC:50533 +HGNC:50538 LINC01331 long intergenic non-protein coding RNA 1331 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 Long intergenic non-protein coding RNAs 1986 2014-05-20 2014-05-20 104310351 ENSG00000248673 OTTHUMG00000162462 DA145234 NR_126354 LINC01331 HGNC:50538 +HGNC:50540 LINC01332 long intergenic non-protein coding RNA 1332 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 TCONS_00009701 Long intergenic non-protein coding RNAs 1986 2014-05-20 2014-05-20 106144530 ENSG00000250446 OTTHUMG00000162458 DA178531 LINC01332 +HGNC:50539 LINC01333 long intergenic non-protein coding RNA 1333 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 Long intergenic non-protein coding RNAs 1986 2014-05-14 2014-05-20 2014-05-20 2014-05-20 101929082 ENSG00000249343 OTTHUMG00000162460 BC043537 NR_105010 LINC01333 HGNC:50539 +HGNC:50542 LINC01335 long intergenic non-protein coding RNA 1335 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 Long intergenic non-protein coding RNAs 1986 2014-05-14 2014-05-20 102503429 ENSG00000248942 OTTHUMG00000162459 AI018361 NR_105009 LINC01335 HGNC:50542 +HGNC:50546 LINC01337 long intergenic non-protein coding RNA 1337 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 TCONS_00009713 Long intergenic non-protein coding RNAs 1986 2014-05-20 2014-05-20 103689917 ENSG00000251221 OTTHUMG00000162533 DB525610 NR_125754 LINC01337 HGNC:50546 +HGNC:50547 LINC01338 long intergenic non-protein coding RNA 1338 non-coding RNA RNA, long non-coding Approved 5q14.2 05q14.2 Long intergenic non-protein coding RNAs 1986 2014-05-20 2014-05-20 102546175 ENSG00000281327 OTTHUMG00000189588 NR_105016 LINC01338 HGNC:50547 +HGNC:50549 LINC01339 long intergenic non-protein coding RNA 1339 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Long intergenic non-protein coding RNAs 1986 2014-05-20 2014-05-20 101929495 ENSG00000248555 OTTHUMG00000162621 AI674738 NR_120601 LINC01339 HGNC:50549 +HGNC:50550 LINC01340 long intergenic non-protein coding RNA 1340 non-coding RNA RNA, long non-coding Approved 5q15 05q15 Long intergenic non-protein coding RNAs 1986 2014-05-20 2014-05-20 102546227 ENSG00000250331 OTTHUMG00000162701 BQ432570 NR_105028 LINC01340 HGNC:50550 +HGNC:49457 LINC01341 long intergenic non-protein coding RNA 1341 non-coding RNA RNA, long non-coding Approved 1q44 01q44 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 149134 ENSG00000227953 OTTHUMG00000040519 NR_015422 LINC01341 HGNC:49457 +HGNC:50551 LINC01342 long intergenic non-protein coding RNA 1342 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 254099 ENSG00000223823 OTTHUMG00000000827 BC028014 NR_038869 LINC01342 HGNC:50551 +HGNC:50553 LINC01343 long intergenic non-protein coding RNA 1343 non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 339442 ENSG00000237290 OTTHUMG00000000479 BC042675 NR_038928 LINC01343 HGNC:50553 +HGNC:50554 LINC01344 long intergenic non-protein coding RNA 1344 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 400799 ENSG00000228918 OTTHUMG00000037403 NR_104175 LINC01344 HGNC:50554 +HGNC:50564 LINC01345 long intergenic non-protein coding RNA 1345 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2016-11-14 2016-11-14 105376672 ENSG00000226374 OTTHUMG00000000731 NR_147024 HGNC:50564 +HGNC:50563 LINC01346 long intergenic non-protein coding RNA 1346 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 728716 ENSG00000233304 OTTHUMG00000000499 NR_040065 LINC01346 HGNC:50563 +HGNC:50566 LINC01347 long intergenic non-protein coding RNA 1347 non-coding RNA RNA, long non-coding Approved 1q43 01q43 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 731275 ENSG00000214837 OTTHUMG00000039861 NR_029401 LINC01347 HGNC:50566 +HGNC:50567 LINC01348 long intergenic non-protein coding RNA 1348 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 Long intergenic non-protein coding RNAs 1986 2014-05-21 2017-10-26 731656 ENSG00000280587 OTTHUMG00000189738 AK128489 NR_027454 HGNC:50567 +HGNC:50568 LINC01349 long intergenic non-protein coding RNA 1349 non-coding RNA RNA, long non-coding Approved 1p21.2 01p21.2 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 100128787 ENSG00000230402 OTTHUMG00000040491 NR_038914 LINC01349 HGNC:50568 +HGNC:50575 LINC01350 long intergenic non-protein coding RNA 1350 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 101929093 ENSG00000228309 OTTHUMG00000035577 NR_110793 LINC01350 HGNC:50575 +HGNC:50578 LINC01352 long intergenic non-protein coding RNA 1352 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 101929730 ENSG00000238078 OTTHUMG00000037355 NR_110797 LINC01352 HGNC:50578 +HGNC:50580 LINC01353 long intergenic non-protein coding RNA 1353 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 100506775 ENSG00000231507 OTTHUMG00000041219 NR_117097 LINC01353 HGNC:50580 +HGNC:50581 LINC01354 long intergenic non-protein coding RNA 1354 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 100506795 ENSG00000231768 OTTHUMG00000037976 NR_038426 LINC01354 HGNC:50581 +HGNC:50584 LINC01355 long intergenic non-protein coding RNA 1355 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 HYPAL Hypoxia Yield Proliferation Associated LncRNA Long intergenic non-protein coding RNAs 1986 2014-05-21 2021-07-20 100996511 ENSG00000261326 OTTHUMG00000175761 NR_110616 "31243265|34247316" LINC01355 HGNC:50584 +HGNC:50587 LINC01356 long intergenic non-protein coding RNA 1356 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Long intergenic non-protein coding RNAs 1986 2014-05-21 2014-05-21 100996702 ENSG00000215866 OTTHUMG00000012022 NR_103746 Q8N9X3 LINC01356 HGNC:50587 +HGNC:50588 LINC01357 long intergenic non-protein coding RNA 1357 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 HP08777 Long intergenic non-protein coding RNAs 1986 2018-11-28 2018-11-28 105378912 ENSG00000224167 OTTHUMG00000012023 HGNC:50588 +HGNC:50589 LINC01358 long intergenic non-protein coding RNA 1358 non-coding RNA RNA, long non-coding Approved 1p32.1 01p32.1 Long intergenic non-protein coding RNAs 1986 2014-05-21 2016-10-04 101926925 ENSG00000237352 OTTHUMG00000008373 NR_110626 LINC01358 HGNC:50589 +HGNC:50591 LINC01359 long intergenic non-protein coding RNA 1359 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Long intergenic non-protein coding RNAs 1986 2014-05-22 2014-05-22 101927084 ENSG00000226891 OTTHUMG00000009307 NR_119383 LINC01359 HGNC:50591 +HGNC:50593 LINC01360 long intergenic non-protein coding RNA 1360 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2014-05-22 2014-05-22 101927295 ENSG00000233973 OTTHUMG00000009566 NR_110676 LINC01360 HGNC:50593 +HGNC:50595 LINC01361 long intergenic non-protein coding RNA 1361 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2014-05-22 2014-05-22 101927498 ENSG00000236268 OTTHUMG00000009770 NR_110632 LINC01361 HGNC:50595 +HGNC:50596 LINC01362 long intergenic non-protein coding RNA 1362 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2014-05-22 2014-05-22 103283057 ENSG00000230817 OTTHUMG00000009769 BC043539 NR_147074 LINC01362 HGNC:50596 +HGNC:50598 LINC01363 long intergenic non-protein coding RNA 1363 non-coding RNA RNA, long non-coding Approved 1q24.1 01q24.1 RBSG4 Long intergenic non-protein coding RNAs 1986 2014-05-22 2014-05-22 101928484 ENSG00000231605 OTTHUMG00000034431 NR_110811 LINC01363 HGNC:50598 +HGNC:50599 LINC01364 long intergenic non-protein coding RNA 1364 non-coding RNA RNA, long non-coding Approved 1p22.3 01p22.3 Long intergenic non-protein coding RNAs 1986 2014-05-22 2014-06-10 100505768 ENSG00000227290 OTTHUMG00000010252 NR_038324 LINC01364 HGNC:50599 +HGNC:50603 LINC01365 long intergenic non-protein coding RNA 1365 non-coding RNA RNA, long non-coding Approved 4q26 04q26 Long intergenic non-protein coding RNAs 1986 2014-05-22 2014-05-22 101927007 ENSG00000250772 OTTHUMG00000161337 NR_110660 LINC01365 HGNC:50603 +HGNC:27416 LINC01366 long intergenic non-protein coding RNA 1366 non-coding RNA RNA, long non-coding Approved 5q35.1 05q35.1 Long intergenic non-protein coding RNAs 1986 2014-05-22 2014-05-22 257358 ENSG00000235172 OTTHUMG00000163120 NR_026945 LINC01366 HGNC:27416 +HGNC:50608 LINC01370 long intergenic non-protein coding RNA 1370 non-coding RNA RNA, long non-coding Approved 20q12 20q12 HI-LNC25 Human Islet Long Non Coding RNA 25 Long intergenic non-protein coding RNAs 1986 2014-05-21 2016-11-24 100505663 ENSG00000237767 OTTHUMG00000032469 BI792917 NR_109936 23040067 617038 hi-lnc25 LINC01370 HGNC:50608 +HGNC:50623 LINC01372 long intergenic non-protein coding RNA 1372 non-coding RNA RNA, long non-coding Approved 7q11.21 07q11.21 Long intergenic non-protein coding RNAs 1986 2014-05-25 2020-01-24 101929736 OTTHUMG00000156924 BC017910 NR_108104 LINC01372 HGNC:50623 +HGNC:50631 LINC01374 long intergenic non-protein coding RNA 1374 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 TCONS_00018278 Long intergenic non-protein coding RNAs 1986 2014-06-02 2020-04-20 105378425 ENSG00000280560 OTTHUMG00000189507 AI126223 NR_149079 24876753 HGNC:50631 +HGNC:50632 LINC01375 long intergenic non-protein coding RNA 1375 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 Long intergenic non-protein coding RNAs 1986 2014-06-01 2014-06-02 101926924 ENSG00000226159 OTTHUMG00000018728 AK093219 NR_110655 LINC01375 HGNC:50632 +HGNC:50637 LINC01376 long intergenic non-protein coding RNA 1376 non-coding RNA RNA, long non-coding Approved 2p24.2-p24.1 02p24.2-p24.1 Long intergenic non-protein coding RNAs 1986 2014-06-02 2018-02-13 400945 ENSG00000236204 OTTHUMG00000151766 AK123475 NR_135287 LINC01376 HGNC:50637 +HGNC:50642 LINC01377 long intergenic non-protein coding RNA 1377 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Long intergenic non-protein coding RNAs 1986 2014-06-02 2014-06-02 102467074 OTTHUMG00000161608 NR_104617 HGNC:50642 +HGNC:50645 LINC01378 long intergenic non-protein coding RNA 1378 non-coding RNA RNA, long non-coding Approved 4q26 04q26 Long intergenic non-protein coding RNAs 1986 2014-06-03 2014-06-03 103689918 ENSG00000236922 OTTHUMG00000059450 DB466276 NR_125757 LINC01378 HGNC:50645 +HGNC:50653 LINC01381 long intergenic non-protein coding RNA 1381 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 "TCONS_00002860|DADOT" DNMT3A antisense downstream transcript Long intergenic non-protein coding RNAs 1986 2014-06-04 2014-06-26 2014-06-26 2016-11-24 106144568 ENSG00000230452 OTTHUMG00000152010 AW515644 NR_132378 LINC01381 HGNC:50653 +HGNC:50657 LINC01385 long intergenic non-protein coding RNA 1385 non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 TCONS_00009424 Long intergenic non-protein coding RNAs 1986 2014-06-04 2014-06-04 106144542 ENSG00000251604 OTTHUMG00000162491 DB294021 LINC01385 +HGNC:50659 LINC01386 long intergenic non-protein coding RNA 1386 non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 Long intergenic non-protein coding RNAs 1986 2014-06-04 2014-06-04 104355294 ENSG00000251324 OTTHUMG00000162499 AA969225 NR_126410 LINC01386 HGNC:50659 +HGNC:44660 LINC01387 long intergenic non-protein coding RNA 1387 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 C18orf64 chromosome 18 open reading frame 64 Long intergenic non-protein coding RNAs 1986 2013-11-07 2014-06-04 2014-06-04 2014-11-19 100130480 ENSG00000265944 OTTHUMG00000178464 NR_120518 J3KSC0 LINC01387 HGNC:44660 +HGNC:50660 LINC01388 long intergenic non-protein coding RNA 1388 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 TCONS_l2_00029888 Long intergenic non-protein coding RNAs 1986 2014-06-04 2014-06-04 101929179 ENSG00000231808 OTTHUMG00000019424 AW873619 XR_007061384 LINC01388 HGNC:50660 +HGNC:50661 LINC01389 long intergenic non-protein coding RNA 1389 non-coding RNA RNA, long non-coding Approved 1p33 01p33 Long intergenic non-protein coding RNAs 1986 2014-06-04 2014-06-04 102724077 ENSG00000225762 OTTHUMG00000007965 BX102452 NR_126355 LINC01389 HGNC:50661 +HGNC:50666 LINC01391 long intergenic non-protein coding RNA 1391 non-coding RNA RNA, long non-coding Approved 3q22.3 03q22.3 Long intergenic non-protein coding RNAs 1986 2014-06-05 2019-06-19 103344930 ENSG00000244578 OTTHUMG00000159892 AK128202 NR_121649 31207322 LINC01391 HGNC:50666 +HGNC:50668 LINC01392 long intergenic non-protein coding RNA 1392 non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 Long intergenic non-protein coding RNAs 1986 2014-06-05 2014-06-05 104355291 ENSG00000233607 OTTHUMG00000133696 DA452608 NR_126407 LINC01392 HGNC:50668 +HGNC:50669 LINC01393 long intergenic non-protein coding RNA 1393 non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 Long intergenic non-protein coding RNAs 1986 2014-06-05 2014-06-05 102724386 ENSG00000225535 OTTHUMG00000065346 BC022431 NR_120521 LINC01393 HGNC:50669 +HGNC:50670 LINC01394 long intergenic non-protein coding RNA 1394 non-coding RNA RNA, long non-coding Approved 6p25.3 06p25.3 TCONS_00012639 Long intergenic non-protein coding RNAs 1986 2014-06-05 2017-10-26 106144586 ENSG00000281809 OTTHUMG00000189510 AI698698 XR_007059395 HGNC:50670 +HGNC:50674 LINC01395 long intergenic non-protein coding RNA 1395 non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 TCONS_00019178 Long intergenic non-protein coding RNAs 1986 2014-06-05 2019-04-24 101929557 ENSG00000281097 OTTHUMG00000189543 BC038579 NR_120582 HGNC:50674 +HGNC:50675 LINC01396 long intergenic non-protein coding RNA 1396 non-coding RNA RNA, long non-coding Approved 4p16.2 04p16.2 Long intergenic non-protein coding RNAs 1986 2014-06-05 2014-06-05 103695434 ENSG00000273396 OTTHUMG00000186235 AW195733 NR_125765 LINC01396 HGNC:50675 +HGNC:50677 LINC01397 long intergenic non-protein coding RNA 1397 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Long intergenic non-protein coding RNAs 1986 2014-06-05 2014-06-05 104355139 ENSG00000258673 OTTHUMG00000170609 DA779101 NR_126382 LINC01397 HGNC:50677 +HGNC:50678 LINC01398 long intergenic non-protein coding RNA 1398 non-coding RNA RNA, long non-coding Approved 1p33 01p33 Long intergenic non-protein coding RNAs 1986 2014-06-05 2014-06-05 101929651 ENSG00000224863 OTTHUMG00000007814 BC021746 NR_121680 LINC01398 HGNC:50678 +HGNC:50680 LINC01399 long intergenic non-protein coding RNA 1399 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Long intergenic non-protein coding RNAs 1986 2014-06-05 2016-11-07 104310353 ENSG00000233080 OTTHUMG00000150957 CB111670 NR_126356 LINC01399 HGNC:50680 +HGNC:50681 LINC01400 long intergenic non-protein coding RNA 1400 non-coding RNA RNA, long non-coding Approved 9p13.2 09p13.2 TCONS_00015805 Long intergenic non-protein coding RNAs 1986 2014-06-05 2014-06-05 107080554 ENSG00000232920 OTTHUMG00000019909 AL559860 LINC01400 +HGNC:50685 LINC01402 long intergenic non-protein coding RNA 1402 non-coding RNA RNA, long non-coding Approved Xq24 Xq24 TCONS_00017087 Long intergenic non-protein coding RNAs 1986 2014-06-05 2015-03-11 104797536 ENSG00000228139 OTTHUMG00000022291 AA360663 NR_126557 LINC01402 HGNC:50685 +HGNC:50689 LINC01404 long intergenic non-protein coding RNA 1404 non-coding RNA RNA, long non-coding Approved 12q24.11 12q24.11 Long intergenic non-protein coding RNAs 1986 2022-01-17 2022-01-17 105369980 ENSG00000258240 OTTHUMG00000169537 NR_135001 +HGNC:50688 LINC01405 long intergenic non-protein coding RNA 1405 non-coding RNA RNA, long non-coding Approved 12q24.11 12q24.11 Long intergenic non-protein coding RNAs 1986 2014-06-05 2021-02-10 100131138 ENSG00000185847 OTTHUMG00000169536 AJ276555 NR_036513 LINC01405 HGNC:50688 +HGNC:50701 LINC01409 long intergenic non-protein coding RNA 1409 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105378580 ENSG00000237491 OTTHUMG00000002404 AI142379 XR_007065319 HGNC:50701 +HGNC:50702 LINC01410 long intergenic non-protein coding RNA 1410 non-coding RNA RNA, long non-coding Approved 9q13 09q13 Long intergenic non-protein coding RNAs 1986 2014-06-09 2020-01-30 103352539 ENSG00000238113 OTTHUMG00000013291 CR627148 NR_121647 31951299 LINC01410 HGNC:50702 +HGNC:50703 LINC01411 long intergenic non-protein coding RNA 1411 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 RP11-267A15.1 Long intergenic non-protein coding RNAs 1986 2014-06-09 2014-11-26 101928176 ENSG00000249306 OTTHUMG00000163128 BM051440 NR_125806 25422238 LINC01411 HGNC:50703 +HGNC:50704 LINC01412 long intergenic non-protein coding RNA 1412 non-coding RNA RNA, long non-coding Approved 2q22.3 02q22.3 Long intergenic non-protein coding RNAs 1986 2014-06-10 2014-06-10 101928455 ENSG00000232606 OTTHUMG00000153876 NR_110570 LINC01412 HGNC:50704 +HGNC:50705 LINC01413 long intergenic non-protein coding RNA 1413 non-coding RNA RNA, long non-coding Approved 15q21.3 15q21.3 Long intergenic non-protein coding RNAs 1986 2014-06-10 2014-06-10 101928611 ENSG00000260172 OTTHUMG00000176406 NR_120337 LINC01413 HGNC:50705 +HGNC:50707 LINC01414 long intergenic non-protein coding RNA 1414 non-coding RNA RNA, long non-coding Approved 8q12.3 08q12.3 Long intergenic non-protein coding RNAs 1986 2018-11-28 2018-11-28 102724623 ENSG00000253554 OTTHUMG00000164358 DA150982 NR_125826 HGNC:50707 +HGNC:50709 LINC01415 long intergenic non-protein coding RNA 1415 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 TCONS_00026208 Long intergenic non-protein coding RNAs 1986 2014-06-11 2014-06-11 100132501 ENSG00000267325 OTTHUMG00000179871 AK127787 NR_145452 LINC01415 HGNC:50709 +HGNC:51645 LINC01416 long intergenic non-protein coding RNA 1416 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 Long intergenic non-protein coding RNAs 1986 2015-04-09 2015-04-09 101927273 ENSG00000260930 OTTHUMG00000176192 NR_110755 LINC01416 HGNC:51645 +HGNC:50712 LINC01419 long intergenic non-protein coding RNA 1419 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 "TCONS_00014497|PRLH1" p53-regulated lncRNA for homologous recombination (HR) repair 1 Long intergenic non-protein coding RNAs 1986 2014-06-11 2021-07-20 103352670 ENSG00000253898 OTTHUMG00000164609 BC038578 NR_122034 "31019568|31486214" LINC01419 HGNC:50712 +HGNC:50728 LINC01422 long intergenic non-protein coding RNA 1422 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Long intergenic non-protein coding RNAs 1986 2014-06-13 2014-06-13 101929539 ENSG00000223704 OTTHUMG00000150979 NR_110540 LINC01422 HGNC:50728 +HGNC:50732 LINC01423 long intergenic non-protein coding RNA 1423 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 Long intergenic non-protein coding RNAs 1986 2014-06-13 2016-10-05 102724678 ENSG00000231231 OTTHUMG00000090768 "AI752367|DA464432" NR_110545 LINC01423 HGNC:50732 +HGNC:40558 LINC01424 long intergenic non-protein coding RNA 1424 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Long intergenic non-protein coding RNAs 1986 2014-06-13 2014-11-19 101928689 ENSG00000236519 OTTHUMG00000090255 NR_109928 LINC01424 HGNC:40558 +HGNC:50733 LINC01425 long intergenic non-protein coding RNA 1425 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 Long intergenic non-protein coding RNAs 1986 2014-06-13 2014-06-13 101927821 ENSG00000233997 OTTHUMG00000078125 NR_109958 LINC01425 HGNC:50733 +HGNC:50734 LINC01426 long intergenic non-protein coding RNA 1426 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 Long intergenic non-protein coding RNAs 1986 2014-06-13 2014-06-13 100506385 ENSG00000234380 OTTHUMG00000086233 NR_038885 LINC01426 HGNC:50734 +HGNC:50737 LINC01427 long intergenic non-protein coding RNA 1427 non-coding RNA RNA, long non-coding Approved 20p11.22 20p11.22 Long intergenic non-protein coding RNAs 1986 2014-06-13 2014-06-13 101929663 ENSG00000225321 OTTHUMG00000032039 NR_110615 LINC01427 HGNC:50737 +HGNC:50738 LINC01428 long intergenic non-protein coding RNA 1428 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 Long intergenic non-protein coding RNAs 1986 2014-06-13 2014-06-13 101929265 ENSG00000228888 OTTHUMG00000031836 NR_110609 LINC01428 HGNC:50738 +HGNC:50741 LINC01429 long intergenic non-protein coding RNA 1429 non-coding RNA RNA, long non-coding Approved 20q13.2 20q13.2 Long intergenic non-protein coding RNAs 1986 2014-06-13 2014-06-13 101927678 ENSG00000227964 OTTHUMG00000134283 NR_110016 LINC01429 HGNC:50741 +HGNC:50742 LINC01430 long intergenic non-protein coding RNA 1430 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 Long intergenic non-protein coding RNAs 1986 2014-06-13 2017-02-17 101927242 NR_109893 LINC01430 HGNC:50742 +HGNC:50744 LINC01431 long intergenic non-protein coding RNA 1431 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 Long intergenic non-protein coding RNAs 1986 2014-06-13 2014-06-13 100505683 ENSG00000232645 OTTHUMG00000032063 NR_109884 LINC01431 HGNC:50744 +HGNC:50745 LINC01432 long intergenic non-protein coding RNA 1432 non-coding RNA RNA, long non-coding Approved 20p11.22 20p11.22 Long intergenic non-protein coding RNAs 1986 2014-06-13 2014-06-13 100270679 ENSG00000234435 OTTHUMG00000032036 NR_038394 LINC01432 HGNC:50745 +HGNC:50746 LINC01433 long intergenic non-protein coding RNA 1433 non-coding RNA RNA, long non-coding Approved 20p13 20p13 LOC728228 Long intergenic non-protein coding RNAs 1986 2014-06-13 2018-03-15 728228 ENSG00000230176 OTTHUMG00000031776 NR_033917 "25820656|29532622" LINC01433 HGNC:50746 +HGNC:50753 LINC01435 long intergenic non-protein coding RNA 1435 non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 "RP11-215N21.1|TCONS_00018040" Long intergenic non-protein coding RNAs 1986 2014-06-14 2014-06-17 103695365 ENSG00000229981 OTTHUMG00000019020 "BX116650|AA406208" NR_125760 24932682 LINC01435 HGNC:50753 +HGNC:50754 LINC01436 long intergenic non-protein coding RNA 1436 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 AP000688.8 Long intergenic non-protein coding RNAs 1986 2014-06-14 2014-06-17 100996609 ENSG00000231106 OTTHUMG00000086463 NR_110419 24932682 LINC01436 HGNC:50754 +HGNC:50757 LINC01438 long intergenic non-protein coding RNA 1438 non-coding RNA RNA, long non-coding Approved 4q25 04q25 TCONS_00007593 Long intergenic non-protein coding RNAs 1986 2014-06-17 2014-06-17 106144527 ENSG00000249519 OTTHUMG00000161115 DA725631 LINC01438 +HGNC:50762 LINC01440 long intergenic non-protein coding RNA 1440 non-coding RNA RNA, long non-coding Approved 20q13.2 20q13.2 Long intergenic non-protein coding RNAs 1986 2014-06-17 2014-06-17 102723578 ENSG00000235166 OTTHUMG00000032780 BX107747 NR_110629 LINC01440 HGNC:50762 +HGNC:50763 LINC01441 long intergenic non-protein coding RNA 1441 non-coding RNA RNA, long non-coding Approved 20q13.2 20q13.2 Long intergenic non-protein coding RNAs 1986 2014-06-17 2014-06-17 101927796 ENSG00000224008 OTTHUMG00000134311 NR_110064 LINC01441 HGNC:50763 +HGNC:50764 LINC01442 long intergenic non-protein coding RNA 1442 non-coding RNA RNA, long non-coding Approved 13q21.2 13q21.2 Long intergenic non-protein coding RNAs 1986 2014-06-17 2014-06-17 103456507 ENSG00000227510 OTTHUMG00000017010 "AK097816|AA393276" XR_001749887 LINC01442 HGNC:50764 +HGNC:50768 LINC01443 long intergenic non-protein coding RNA 1443 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 Long intergenic non-protein coding RNAs 1986 2014-06-17 2014-06-17 400644 ENSG00000266554 OTTHUMG00000178811 NR_104164 LINC01443 HGNC:50768 +HGNC:50769 LINC01444 long intergenic non-protein coding RNA 1444 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 Long intergenic non-protein coding RNAs 1986 2014-06-17 2014-06-17 101927642 ENSG00000264301 OTTHUMG00000178812 NR_110783 LINC01444 HGNC:50769 +HGNC:50771 LINC01445 long intergenic non-protein coding RNA 1445 non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Long intergenic non-protein coding RNAs 1986 2014-06-18 2014-06-18 102723605 ENSG00000231427 OTTHUMG00000156067 BF966467 NR_120515 LINC01445 HGNC:50771 +HGNC:50773 LINC01446 long intergenic non-protein coding RNA 1446 non-coding RNA RNA, long non-coding Approved 7p12.1 07p12.1 FLJ45974 Long intergenic non-protein coding RNAs 1986 2014-06-18 2014-06-18 401337 ENSG00000205628 OTTHUMG00000156039 NR_038371 LINC01446 HGNC:50773 +HGNC:50783 LINC01447 long intergenic non-protein coding RNA 1447 non-coding RNA RNA, long non-coding Approved 7p12.3 07p12.3 Long intergenic non-protein coding RNAs 1986 2014-06-18 2014-06-18 101929086 ENSG00000236078 OTTHUMG00000155554 NR_108090 LINC01447 HGNC:50783 +HGNC:50790 LINC01448 long intergenic non-protein coding RNA 1448 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 Long intergenic non-protein coding RNAs 1986 2014-06-18 2014-06-18 101928795 ENSG00000238284 OTTHUMG00000155126 NR_110833 LINC01448 HGNC:50790 +HGNC:50791 LINC01449 long intergenic non-protein coding RNA 1449 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 Long intergenic non-protein coding RNAs 1986 2014-06-18 2014-06-18 101928773 ENSG00000224017 OTTHUMG00000155115 NR_110832 LINC01449 HGNC:50791 +HGNC:50792 LINC01450 long intergenic non-protein coding RNA 1450 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 Long intergenic non-protein coding RNAs 1986 2014-06-18 2014-06-18 101928744 ENSG00000232458 OTTHUMG00000155113 NR_110831 LINC01450 HGNC:50792 +HGNC:48599 LINC01451 long intergenic non-protein coding RNA 1451 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 HCCAT4 hepatocellular carcinoma associated transcript 4 (non-protein coding) Long intergenic non-protein coding RNAs 1986 2013-05-14 2014-06-20 2014-06-20 2014-06-20 401561 OTTHUMG00000189535 "AY129027|CA503198" NR_135288 HGNC:48599 +HGNC:50545 LINC01455 long intergenic non-protein coding RNA 1455 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 TCONS_00009433 MDONA MTX3 downstream antisense RNA Long intergenic non-protein coding RNAs 1986 2014-05-20 2014-06-26 2014-06-26 2014-06-26 105616916 ENSG00000250888 OTTHUMG00000162549 DB088210 NR_131226 LINC01455 HGNC:50545 +HGNC:50846 LINC01456 long intergenic non-protein coding RNA 1456 non-coding RNA RNA, long non-coding Approved Xp22.13 Xp22.13 Long intergenic non-protein coding RNAs 1986 2014-06-26 2014-06-26 105373144 ENSG00000225882 OTTHUMG00000021210 BE792552 NR_133641 LINC01456 HGNC:50846 +HGNC:50858 LINC01460 long intergenic non-protein coding RNA 1460 non-coding RNA RNA, long non-coding Approved 2p23.2 02p23.2 Long intergenic non-protein coding RNAs 1986 2014-07-04 2014-07-08 100129995 ENSG00000205334 OTTHUMG00000151945 AK124439 NR_135200 LINC01460 HGNC:50858 +HGNC:50859 LINC01461 long intergenic non-protein coding RNA 1461 non-coding RNA RNA, long non-coding Approved 1p22.3 01p22.3 TCONS_00001552 Long intergenic non-protein coding RNAs 1986 2014-07-08 2014-07-08 103695366 DA091614 NR_125761 HGNC:50859 +HGNC:26364 LINC01465 long intergenic non-protein coding RNA 1465 non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 FLJ25590 C12orf61 chromosome 12 open reading frame 61 Long intergenic non-protein coding RNAs 1986 2006-02-17 2014-07-17 2014-07-17 2014-11-19 283416 ENSG00000221949 OTTHUMG00000169983 AK098456 NR_121682 Q8N7H1 LINC01465 HGNC:26364 +HGNC:50911 LINC01467 long intergenic non-protein coding RNA 1467 non-coding RNA RNA, long non-coding Approved 14q31.1 14q31.1 Long intergenic non-protein coding RNAs 1986 2014-07-28 2014-07-28 101928559 ENSG00000258977 OTTHUMG00000171398 NR_110074 LINC01467 HGNC:50911 +HGNC:51105 LINC01470 long intergenic non-protein coding RNA 1470 non-coding RNA RNA, long non-coding Approved 5q33.1 05q33.1 Long intergenic non-protein coding RNAs 1986 2014-07-29 2014-07-29 101927134 ENSG00000249484 OTTHUMG00000163486 NR_109877 LINC01470 HGNC:51105 +HGNC:51106 LINC01471 long intergenic non-protein coding RNA 1471 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 Long intergenic non-protein coding RNAs 1986 2014-07-29 2014-07-29 101927149 ENSG00000239921 OTTHUMG00000159643 NR_125397 LINC01471 HGNC:51106 +HGNC:51109 LINC01473 long intergenic non-protein coding RNA 1473 non-coding RNA RNA, long non-coding Approved 2q32.1 02q32.1 Long intergenic non-protein coding RNAs 1986 2014-07-29 2014-07-29 101927217 ENSG00000237877 OTTHUMG00000154250 NR_110218 LINC01473 HGNC:51109 +HGNC:51111 LINC01474 long intergenic non-protein coding RNA 1474 non-coding RNA RNA, long non-coding Approved 9q21.13 09q21.13 Long intergenic non-protein coding RNAs 1986 2014-07-29 2014-07-29 101927258 ENSG00000236849 OTTHUMG00000020015 NR_121120 LINC01474 HGNC:51111 +HGNC:51113 LINC01475 long intergenic non-protein coding RNA 1475 non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 Long intergenic non-protein coding RNAs 1986 2014-07-29 2014-07-29 101927324 ENSG00000257582 OTTHUMG00000170536 NR_120618 LINC01475 HGNC:51113 +HGNC:51117 LINC01476 long intergenic non-protein coding RNA 1476 non-coding RNA RNA, long non-coding Approved 17q22-q23.1 17q22-q23.1 Long intergenic non-protein coding RNAs 1986 2014-07-30 2018-02-13 101927728 ENSG00000265313 OTTHUMG00000179382 NR_110813 LINC01476 HGNC:51117 +HGNC:51119 LINC01477 long intergenic non-protein coding RNA 1477 non-coding RNA RNA, long non-coding Approved 18q12.3 18q12.3 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101927900 ENSG00000261715 OTTHUMG00000176177 NR_110791 LINC01477 HGNC:51119 +HGNC:51121 LINC01478 long intergenic non-protein coding RNA 1478 non-coding RNA RNA, long non-coding Approved 18q12.3 18q12.3 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101927921 ENSG00000267337 OTTHUMG00000178347 NR_110792 LINC01478 HGNC:51121 +HGNC:51123 LINC01479 long intergenic non-protein coding RNA 1479 non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101927922 ENSG00000255772 OTTHUMG00000169106 NR_120456 LINC01479 HGNC:51123 +HGNC:51124 LINC01480 long intergenic non-protein coding RNA 1480 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101927931 ENSG00000270164 OTTHUMG00000184156 NR_110724 LINC01480 HGNC:51124 +HGNC:51128 LINC01482 long intergenic non-protein coding RNA 1482 non-coding RNA RNA, long non-coding Approved 17q24.2 17q24.2 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928104 ENSG00000267659 OTTHUMG00000180190 NR_110825 LINC01482 HGNC:51128 +HGNC:51130 LINC01483 long intergenic non-protein coding RNA 1483 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928122 ENSG00000227517 OTTHUMG00000132249 NR_109971 LINC01483 HGNC:51130 +HGNC:51136 LINC01484 long intergenic non-protein coding RNA 1484 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928136 ENSG00000253686 OTTHUMG00000163343 NR_108027 HGNC:51136 +HGNC:51138 LINC01485 long intergenic non-protein coding RNA 1485 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 Long intergenic non-protein coding RNAs 1986 2014-07-30 2020-09-25 101928154 ENSG00000254211 OTTHUMG00000163337 NR_108028 32904620 HGNC:51138 +HGNC:51137 LINC01486 long intergenic non-protein coding RNA 1486 non-coding RNA RNA, long non-coding Approved 12q24.11 12q24.11 TCONS_00021407 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928138 ENSG00000256560 OTTHUMG00000169251 NR_120462 LINC01486 HGNC:51137 +HGNC:51139 LINC01487 long intergenic non-protein coding RNA 1487 non-coding RNA RNA, long non-coding Approved 3q25.2 03q25.2 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928190 ENSG00000241336 OTTHUMG00000158465 NR_125399 LINC01487 HGNC:51139 +HGNC:51144 LINC01488 long intergenic non-protein coding RNA 1488 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 CUPID1 CCND1-upstream intergenic DNA repair 1 Long intergenic non-protein coding RNAs 1986 2014-07-30 2021-09-27 101928292 ENSG00000285094 NR_120542 "32575745|28777932" 617696 LINC01488 HGNC:51144 +HGNC:51145 LINC01489 long intergenic non-protein coding RNA 1489 non-coding RNA RNA, long non-coding Approved 12p12.3 12p12.3 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928340 ENSG00000255727 OTTHUMG00000168744 NR_120466 LINC01489 HGNC:51145 +HGNC:51146 LINC01490 long intergenic non-protein coding RNA 1490 non-coding RNA RNA, long non-coding Approved 12q21.31 12q21.31 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928420 ENSG00000257741 OTTHUMG00000170167 NR_120468 LINC01490 HGNC:51146 +HGNC:51148 LINC01491 long intergenic non-protein coding RNA 1491 non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928442 ENSG00000259572 OTTHUMG00000172113 NR_120336 LINC01491 HGNC:51148 +HGNC:51149 LINC01492 long intergenic non-protein coding RNA 1492 non-coding RNA RNA, long non-coding Approved 9q31.1 09q31.1 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928496 ENSG00000225564 OTTHUMG00000020399 NR_121578 LINC01492 HGNC:51149 +HGNC:51150 LINC01493 long intergenic non-protein coding RNA 1493 non-coding RNA RNA, long non-coding Approved 11p12 11p12 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928536 ENSG00000254562 OTTHUMG00000166467 NR_120553 HGNC:51150 +HGNC:51152 LINC01494 long intergenic non-protein coding RNA 1494 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 101928537 ENSG00000228135 OTTHUMG00000154664 NR_110238 LINC01494 HGNC:51152 +HGNC:51161 LINC01495 long intergenic non-protein coding RNA 1495 non-coding RNA RNA, long non-coding Approved 11p14.3 11p14.3 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 102723378 ENSG00000255323 OTTHUMG00000166054 NR_120583 LINC01495 HGNC:51161 +HGNC:51162 LINC01496 long intergenic non-protein coding RNA 1496 non-coding RNA RNA, long non-coding Approved Xp11.22 Xp11.22 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 102723426 ENSG00000234766 OTTHUMG00000021535 NR_110654 LINC01496 HGNC:51162 +HGNC:51163 LINC01497 long intergenic non-protein coding RNA 1497 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 102723487 ENSG00000237560 OTTHUMG00000132247 NR_110874 LINC01497 HGNC:51163 +HGNC:51164 LINC01498 long intergenic non-protein coding RNA 1498 non-coding RNA RNA, long non-coding Approved 12q23.3 12q23.3 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 102723562 ENSG00000247213 OTTHUMG00000169577 NR_120483 LINC01498 HGNC:51164 +HGNC:51165 LINC01499 long intergenic non-protein coding RNA 1499 non-coding RNA RNA, long non-coding Approved 11p12 11p12 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 102723644 ENSG00000255171 OTTHUMG00000166376 NR_120584 LINC01499 HGNC:51165 +HGNC:51166 LINC01500 long intergenic non-protein coding RNA 1500 non-coding RNA RNA, long non-coding Approved 14q23.1 14q23.1 Long intergenic non-protein coding RNAs 1986 2014-07-30 2014-07-30 102723742 ENSG00000258583 OTTHUMG00000171092 NR_110547 LINC01500 HGNC:51166 +HGNC:27988 LINC01501 long intergenic non-protein coding RNA 1501 non-coding RNA RNA, long non-coding Approved 9q22.2 09q22.2 Long intergenic non-protein coding RNAs 1986 2014-07-31 2014-07-31 340515 ENSG00000229613 OTTHUMG00000020197 BC040625 NR_034157 12477932 LINC01501 HGNC:27988 +HGNC:51183 LINC01502 long intergenic non-protein coding RNA 1502 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 Long intergenic non-protein coding RNAs 1986 2014-08-01 2014-08-01 100130954 ENSG00000237339 OTTHUMG00000020912 AK098241 NR_034016 LINC01502 HGNC:51183 +HGNC:51184 LINC01503 long intergenic non-protein coding RNA 1503 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 "lnc-PPP2R4-5|RP11-65J3.1" Long intergenic non-protein coding RNAs 1986 2014-08-01 2018-06-28 100506119 ENSG00000233901 OTTHUMG00000020778 NR_120685 "25045670|29436261" LINC01503 HGNC:51184 +HGNC:51185 LINC01504 long intergenic non-protein coding RNA 1504 non-coding RNA RNA, long non-coding Approved 9q21.13 09q21.13 Long intergenic non-protein coding RNAs 1986 2014-08-01 2014-08-01 100507540 ENSG00000225434 OTTHUMG00000020007 AK095210 NR_110952 LINC01504 HGNC:51185 +HGNC:51186 LINC01505 long intergenic non-protein coding RNA 1505 non-coding RNA RNA, long non-coding Approved 9q31.2 09q31.2 RP11-308N19.1 Long intergenic non-protein coding RNAs 1986 2014-08-01 2017-02-09 100996590 ENSG00000234229 OTTHUMG00000020435 AK093363 NR_104145 28128360 LINC01505 HGNC:51186 +HGNC:51187 LINC01506 long intergenic non-protein coding RNA 1506 non-coding RNA RNA, long non-coding Approved 9q21.11 09q21.11 Long intergenic non-protein coding RNAs 1986 2014-08-01 2014-08-01 101927015 ENSG00000234506 OTTHUMG00000019968 NR_109769 LINC01506 HGNC:51187 +HGNC:51189 LINC01507 long intergenic non-protein coding RNA 1507 non-coding RNA RNA, long non-coding Approved 9q21.31 09q21.31 XLOC_000303 Long intergenic non-protein coding RNAs 1986 2014-08-01 2015-09-18 101927477 ENSG00000230945 OTTHUMG00000020075 NR_121212 26328256 LINC01507 HGNC:51189 +HGNC:51190 LINC01508 long intergenic non-protein coding RNA 1508 non-coding RNA RNA, long non-coding Approved 9q22.2 09q22.2 Long intergenic non-protein coding RNAs 1986 2014-08-01 2021-07-21 101927873 ENSG00000231107 OTTHUMG00000020194 NR_109795 34132072 LINC01508 HGNC:51190 +HGNC:51193 LINC01509 long intergenic non-protein coding RNA 1509 non-coding RNA RNA, long non-coding Approved 9q31.2 09q31.2 Long intergenic non-protein coding RNAs 1986 2014-08-01 2014-08-01 101928720 ENSG00000226825 OTTHUMG00000020447 NR_121581 LINC01509 HGNC:51193 +HGNC:51200 LINC01511 long intergenic non-protein coding RNA 1511 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 RP11-325I22.2 Long intergenic non-protein coding RNAs 1986 2014-08-06 2020-04-20 100506791 ENSG00000250584 OTTHUMG00000161736 BC034612 NR_125810 25085781 LINC01511 HGNC:51200 +HGNC:51201 LINC01512 long intergenic non-protein coding RNA 1512 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 "LOC100132354|TCONS_00011120|HI-LNC77" Human Islet Long Non Coding RNA 77 Long intergenic non-protein coding RNAs 1986 2014-08-07 2014-11-19 100132354 ENSG00000289313 AK095548 NR_024478 "25089627|23040067" LINC01512 HGNC:51201 +HGNC:51202 LINC01513 long intergenic non-protein coding RNA 1513 non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 "RP11-1C1.7|TCONS_00009352" Long intergenic non-protein coding RNAs 1986 2014-08-07 2017-08-09 112163642 ENSG00000246016 OTTHUMG00000162053 BM975707 "25089627|28781691" LINC01513 +HGNC:51207 LINC01514 long intergenic non-protein coding RNA 1514 non-coding RNA RNA, long non-coding Approved 10q24.31 10q24.31 Long intergenic non-protein coding RNAs 1986 2014-08-07 2014-08-07 101927396 ENSG00000237579 OTTHUMG00000018926 BC038784 NR_120620 LINC01514 HGNC:51207 +HGNC:51210 LINC01515 long intergenic non-protein coding RNA 1515 non-coding RNA RNA, long non-coding Approved 10q21.3 10q21.3 Long intergenic non-protein coding RNAs 1986 2014-08-07 2014-08-07 101928913 ENSG00000228065 OTTHUMG00000018330 NR_120647 LINC01515 HGNC:51210 +HGNC:51211 LINC01516 long intergenic non-protein coding RNA 1516 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Long intergenic non-protein coding RNAs 1986 2014-08-07 2014-08-07 101929025 ENSG00000231422 OTTHUMG00000017831 BC042983 NR_120649 LINC01516 HGNC:51211 +HGNC:51212 LINC01517 long intergenic non-protein coding RNA 1517 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Long intergenic non-protein coding RNAs 1986 2014-08-07 2014-08-07 101929218 ENSG00000232624 OTTHUMG00000017877 HY052409 NR_120652 LINC01517 HGNC:51212 +HGNC:51216 LINC01518 long intergenic non-protein coding RNA 1518 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 Long intergenic non-protein coding RNAs 1986 2014-08-07 2017-09-28 101929397 ENSG00000233515 OTTHUMG00000018017 AK123067 NR_120659 28942040 LINC01518 HGNC:51216 +HGNC:51217 LINC01519 long intergenic non-protein coding RNA 1519 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 Long intergenic non-protein coding RNAs 1986 2014-08-07 2014-08-07 101929624 ENSG00000237267 OTTHUMG00000018644 AK097624 NR_120667 LINC01519 HGNC:51217 +HGNC:51218 LINC01520 long intergenic non-protein coding RNA 1520 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 Long intergenic non-protein coding RNAs 1986 2014-08-07 2014-08-07 101929684 ENSG00000230962 OTTHUMG00000018647 AL117638 NR_120671 LINC01520 HGNC:51218 +HGNC:26029 LINC01521 long intergenic non-protein coding RNA 1521 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 Long intergenic non-protein coding RNAs 1986 2014-08-08 2014-09-04 54944 ENSG00000213888 OTTHUMG00000187474 BC004550 NR_120386 LINC01521 HGNC:26029 +HGNC:51224 LINC01522 long intergenic non-protein coding RNA 1522 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Long intergenic non-protein coding RNAs 1986 2014-08-08 2014-08-08 101927457 ENSG00000237423 OTTHUMG00000032678 NR_110027 LINC01522 HGNC:51224 +HGNC:51225 LINC01523 long intergenic non-protein coding RNA 1523 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Long intergenic non-protein coding RNAs 1986 2014-08-08 2014-08-08 101060004 ENSG00000229522 OTTHUMG00000032679 NR_109942 LINC01523 HGNC:51225 +HGNC:51228 LINC01524 long intergenic non-protein coding RNA 1524 non-coding RNA RNA, long non-coding Approved 20q13.2 20q13.2 Long intergenic non-protein coding RNAs 1986 2014-08-08 2015-01-09 101927700 ENSG00000234948 OTTHUMG00000134297 "CD109474|BC045652" NR_110038 LINC01524 HGNC:51228 +HGNC:51264 LINC01525 long intergenic non-protein coding RNA 1525 non-coding RNA RNA, long non-coding Approved 1p12 01p12 lnc-MAN1A2-1 Long intergenic non-protein coding RNAs 1986 2014-08-14 2014-08-14 104355292 ENSG00000235202 OTTHUMG00000012147 "BX109912|AW590930|AA909723" NR_126408 25045670 LINC01525 HGNC:51264 +HGNC:51265 LINC01526 long intergenic non-protein coding RNA 1526 non-coding RNA RNA, long non-coding Approved 6q14.1 06q14.1 Lnc-FAM46A-1 Long intergenic non-protein coding RNAs 1986 2014-08-14 2014-08-14 101928770 ENSG00000224995 OTTHUMG00000015099 BC038576 NR_126363 25045670 LINC01526 HGNC:51265 +HGNC:51266 LINC01527 long intergenic non-protein coding RNA 1527 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 "lnc-SPRR2D-1|RP1-13P20.6" Long intergenic non-protein coding RNAs 1986 2014-08-14 2017-03-10 101927988 ENSG00000224308 OTTHUMG00000012449 BC042056 XR_241125 "25045670|27596299" LINC01527 HGNC:51266 +HGNC:51268 LINC01529 long intergenic non-protein coding RNA 1529 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Long intergenic non-protein coding RNAs 1986 2014-08-15 2014-08-15 644050 ENSG00000225872 OTTHUMG00000048120 AK055260 NR_104176 LINC01529 HGNC:51268 +HGNC:44320 LINC01530 long intergenic non-protein coding RNA 1530 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 FLJ30403 Long intergenic non-protein coding RNAs 1986 2014-08-15 2014-08-15 729975 ENSG00000289037 "AK054965|CA867516|DA060240|DB478715" NR_034159 LINC01530 HGNC:44320 +HGNC:51270 LINC01531 long intergenic non-protein coding RNA 1531 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Long intergenic non-protein coding RNAs 1986 2014-08-22 2014-08-22 100128682 ENSG00000205786 OTTHUMG00000048095 AK128099 NR_040046 LINC01531 HGNC:51270 +HGNC:51272 LINC01532 long intergenic non-protein coding RNA 1532 non-coding RNA RNA, long non-coding Approved 19q12 19q12 Long intergenic non-protein coding RNAs 1986 2014-08-22 2014-08-22 100505835 ENSG00000267014 OTTHUMG00000181996 AK055100 NR_040036 LINC01532 HGNC:51272 +HGNC:51274 LINC01533 long intergenic non-protein coding RNA 1533 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Long intergenic non-protein coding RNAs 1986 2014-08-22 2014-08-22 100996665 ENSG00000267779 OTTHUMG00000180234 NR_110673 LINC01533 HGNC:51274 +HGNC:51282 LINC01535 long intergenic non-protein coding RNA 1535 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Long intergenic non-protein coding RNAs 1986 2014-08-28 2019-07-11 101927667 ENSG00000226686 OTTHUMG00000048167 NR_110720 31273925 LINC01535 HGNC:51282 +HGNC:51301 LINC01537 long intergenic non-protein coding RNA 1537 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 RP11-169D4.1-001 Long intergenic non-protein coding RNAs 1986 2014-09-25 2019-08-08 101928555 ENSG00000227467 OTTHUMG00000167927 AL832797 NR_126364 "25243407|31374807" LINC01537 HGNC:51301 +HGNC:51306 LINC01538 long intergenic non-protein coding RNA 1538 non-coding RNA RNA, long non-coding Approved 18q22.1 18q22.1 "TCONS_00026184|RP11-909B2.1" Long intergenic non-protein coding RNAs 1986 2014-09-26 2018-05-11 400654 ENSG00000266952 OTTHUMG00000180127 BC042493 NR_033983 29737552 LINC01538 HGNC:51306 +HGNC:51307 LINC01539 long intergenic non-protein coding RNA 1539 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 Long intergenic non-protein coding RNAs 1986 2014-09-26 2014-09-26 100505474 ENSG00000267712 OTTHUMG00000180037 "AK057336|AK058169" NR_040025 LINC01539 HGNC:51307 +HGNC:51309 LINC01541 long intergenic non-protein coding RNA 1541 non-coding RNA RNA, long non-coding Approved 18q22.3 18q22.3 Long intergenic non-protein coding RNAs 1986 2014-09-26 2014-09-26 100505776 ENSG00000260676 OTTHUMG00000176200 BX648957 NR_038325 LINC01541 HGNC:51309 +HGNC:51310 LINC01543 long intergenic non-protein coding RNA 1543 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 TCONS_00026302 Long intergenic non-protein coding RNAs 1986 2014-09-26 2014-09-26 100506787 ENSG00000263862 OTTHUMG00000179433 HY185322 NR_110762 LINC01543 HGNC:51310 +HGNC:51312 LINC01544 long intergenic non-protein coding RNA 1544 non-coding RNA RNA, long non-coding Approved 18q21.33 18q21.33 TCONS_00026194 Long intergenic non-protein coding RNAs 1986 2014-09-26 2014-09-26 100996669 ENSG00000260440 OTTHUMG00000176195 AK054836 NR_103449 LINC01544 HGNC:51312 +HGNC:17986 LINC01545 long intergenic non-protein coding RNA 1545 non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 OTTHUMG00000021429 CXorf31 chromosome X open reading frame 31 Long intergenic non-protein coding RNAs 1986 2006-06-30 2014-10-01 2014-10-01 2014-11-19 724087 ENSG00000204904 OTTHUMG00000021429 BC038573 NR_046101 Q5VT33 LINC01545 HGNC:17986 +HGNC:27336 LINC01546 long intergenic non-protein coding RNA 1546 non-coding RNA RNA, long non-coding Approved Xp22.33 Xp22.33 VAL vimentin associated lncRNA CXorf28 chromosome X open reading frame 28 Long intergenic non-protein coding RNAs 1986 2006-06-30 2014-10-01 2014-10-01 2020-11-13 100129464 ENSG00000228459 OTTHUMG00000021082 NR_038428 A6NGU7 33046716 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf28 LINC01546 HGNC:27336 +HGNC:15707 LINC01547 long intergenic non-protein coding RNA 1547 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "C21orf69|C21orf67" "chromosome 21 open reading frame 69|chromosome 21 open reading frame 67" Long intergenic non-protein coding RNAs 1986 2001-05-23 2014-10-01 2014-10-01 2016-09-26 84536 ENSG00000183250 OTTHUMG00000090294 AY040088 NR_027128 P58512 11707072 LINC01547 HGNC:15707 +HGNC:1296 LINC01548 long intergenic non-protein coding RNA 1548 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 C21orf54 chromosome 21 open reading frame 54 Long intergenic non-protein coding RNAs 1986 2000-05-23 2014-10-01 2014-10-01 2014-10-01 728409 ENSG00000229086 OTTHUMG00000065061 NR_024102 A6NM66 LINC01548 HGNC:1296 +HGNC:1277 LINC01549 long intergenic non-protein coding RNA 1549 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 C21orf37 chromosome 21 open reading frame 37 Long intergenic non-protein coding RNAs 1986 2000-05-23 2014-10-01 2014-10-01 2020-04-20 100505929 ENSG00000232560 OTTHUMG00000074397 NR_037585 A6NIU2 LINC01549 HGNC:1277 +HGNC:20111 LINC01550 long intergenic non-protein coding RNA 1550 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 C14orf64 chromosome 14 open reading frame 64 Long intergenic non-protein coding RNAs 1986 2002-12-18 2014-10-01 2014-10-01 2020-04-20 388011 ENSG00000246223 OTTHUMG00000171470 BC043585 NR_015430 LINC01550 HGNC:20111 +HGNC:19828 LINC01551 long intergenic non-protein coding RNA 1551 non-coding RNA RNA, long non-coding Approved 14q12 14q12 C14orf23 chromosome 14 open reading frame 23 Long intergenic non-protein coding RNAs 1986 2002-11-27 2014-10-01 2014-10-01 2020-04-20 387978 ENSG00000186960 OTTHUMG00000029410 NR_026731 Q86U37 31270840 LINC01551 HGNC:19828 +HGNC:23524 LINC01553 long intergenic non-protein coding RNA 1553 non-coding RNA RNA, long non-coding Approved 10q21.2 10q21.2 AC023904.2 C10orf40 chromosome 10 open reading frame 40 Long intergenic non-protein coding RNAs 1986 2004-05-27 2014-10-01 2014-10-01 2016-10-05 283025 ENSG00000235931 OTTHUMG00000018285 BC038741 NR_024340 A4QN01 12477932 LINC01553 HGNC:23524 +HGNC:24687 LINC01554 long intergenic non-protein coding RNA 1554 non-coding RNA RNA, long non-coding Approved 5q15 05q15 "FLJ38821|FIS" C5orf27 chromosome 5 open reading frame 27 Long intergenic non-protein coding RNAs 1986 2006-08-08 2014-10-01 2014-10-01 2020-04-01 202299 ENSG00000236882 OTTHUMG00000122084 AY168789 NR_026936 Q52M75 "28028307|32231743" LINC01554 HGNC:24687 +HGNC:26647 LINC01555 long intergenic non-protein coding RNA 1555 non-coding RNA RNA, long non-coding Approved 1p22.3 01p22.3 FLJ35487 C1orf180 chromosome 1 open reading frame 180 Long intergenic non-protein coding RNAs 1986 2005-07-26 2014-10-01 2014-10-01 2019-07-12 439927 ENSG00000180869 OTTHUMG00000009923 AK092806 NR_027379 Q8NAE3 31144675 LINC01555 HGNC:26647 +HGNC:21195 LINC01556 long intergenic non-protein coding RNA 1556 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 dJ25J6.5 C6orf100 chromosome 6 open reading frame 100 Long intergenic non-protein coding RNAs 1986 2003-11-26 2014-10-01 2014-10-01 2014-10-01 729583 ENSG00000204709 OTTHUMG00000031148 NR_103538 Q5JQF7 LINC01556 HGNC:21195 +HGNC:21235 LINC01558 long intergenic non-protein coding RNA 1558 non-coding RNA RNA, long non-coding Approved 6q27 06q27 "HGC6.2|dJ431P23.4" "C6orf123|LINC01557" "chromosome 6 open reading frame 123|long intergenic non-protein coding RNA 1557" Long intergenic non-protein coding RNAs 1986 2003-05-29 2014-10-01 2014-10-01 2014-11-19 26238 ENSG00000146521 OTTHUMG00000016030 NR_026773 Q9Y6Z2 10382971 LINC01558 HGNC:21235 +HGNC:26598 LINC01559 long intergenic non-protein coding RNA 1559 non-coding RNA RNA, long non-coding Approved 12p13.1 12p13.1 FLJ33810 C12orf36 chromosome 12 open reading frame 36 Long intergenic non-protein coding RNAs 1986 2006-01-23 2014-10-01 2014-10-01 2014-11-19 283422 ENSG00000180861 OTTHUMG00000167562 AK091129 NR_036555 Q495D7 LINC01559 HGNC:26598 +HGNC:27333 LINC01560 long intergenic non-protein coding RNA 1560 non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 CXorf24 chromosome X open reading frame 24 Long intergenic non-protein coding RNAs 1986 2004-06-04 2014-10-01 2014-10-01 2020-04-02 203414 ENSG00000196741 OTTHUMG00000021445 BC025179 NR_126059 Q8TB33 12477932 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf24 LINC01560 HGNC:27333 +HGNC:31365 LINC01561 long intergenic non-protein coding RNA 1561 non-coding RNA RNA, long non-coding Approved 10q26.12 10q26.12 "FLJ37402|Em:AC023282.2" C10orf85 chromosome 10 open reading frame 85 Long intergenic non-protein coding RNAs 1986 2004-03-16 2014-10-08 2014-10-08 2018-06-13 404216 ENSG00000177234 OTTHUMG00000019167 AK094721 NR_103717 Q8N1V8 29890225 LINC01561 HGNC:31365 +HGNC:51335 LINC01562 long intergenic non-protein coding RNA 1562 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 RP11-296A18.3 Long intergenic non-protein coding RNAs 1986 2014-10-08 2021-10-08 105378716 ENSG00000203356 OTTHUMG00000008195 AK127900 NR_147076 25280944 LINC01562 HGNC:51335 +HGNC:51343 LINC01563 long intergenic non-protein coding RNA 1563 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Long intergenic non-protein coding RNAs 1986 2014-10-10 2014-10-10 101060544 ENSG00000236819 OTTHUMG00000130762 AB593144 NR_110895 LINC01563 HGNC:51343 +HGNC:51361 LINC01564 long intergenic non-protein coding RNA 1564 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 TCONS_00011314 Long intergenic non-protein coding RNAs 1986 2014-10-15 2014-10-15 101927171 ENSG00000235899 OTTHUMG00000014881 NR_125841 25307116 LINC01564 HGNC:51361 +HGNC:17099 LINC01565 long intergenic non-protein coding RNA 1565 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 GR6 C3orf27 chromosome 3 open reading frame 27 Long intergenic non-protein coding RNAs 1986 2005-12-19 2014-10-16 2014-10-16 2016-10-05 23434 ENSG00000198685 OTTHUMG00000159688 AF008192 NR_125802 O15544 9307271 618259 LINC01565 HGNC:17099 +HGNC:27555 LINC01566 long intergenic non-protein coding RNA 1566 non-coding RNA RNA, long non-coding Approved 16p11.1 16p11.1 Long intergenic non-protein coding RNAs 1986 2014-10-16 2015-01-22 283914 ENSG00000259841 OTTHUMG00000176250 "BC038774|BC045579" NR_027079 LINC01566 HGNC:27555 +HGNC:51367 LINC01567 long intergenic non-protein coding RNA 1567 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 LOCCS lncRNA overexpressed in colon cancer stem cells Long intergenic non-protein coding RNAs 1986 2014-10-16 2018-07-20 400511 ENSG00000224310 OTTHUMG00000131650 AK127191 NR_122072 29110645 LINC01567 HGNC:51367 +HGNC:51371 LINC01568 long intergenic non-protein coding RNA 1568 non-coding RNA RNA, long non-coding Approved 16q22.3 16q22.3 Long intergenic non-protein coding RNAs 1986 2014-10-16 2014-10-16 100506172 ENSG00000258779 OTTHUMG00000170832 BC036646 NR_038234 LINC01568 HGNC:51371 +HGNC:51380 LINC01569 long intergenic non-protein coding RNA 1569 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 TCONS_00024567 Long intergenic non-protein coding RNAs 1986 2014-10-23 2014-10-23 100507501 ENSG00000262468 OTTHUMG00000177618 AK094828 NR_039999 LINC01569 HGNC:51380 +HGNC:51382 LINC01570 long intergenic non-protein coding RNA 1570 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Long intergenic non-protein coding RNAs 1986 2014-10-23 2014-10-23 101926950 ENSG00000260338 OTTHUMG00000177115 "BI825594|DB449025" NR_110902 LINC01570 HGNC:51382 +HGNC:51384 LINC01571 long intergenic non-protein coding RNA 1571 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 TCONS_00024399 Long intergenic non-protein coding RNAs 1986 2014-10-23 2014-10-23 101927364 ENSG00000260057 OTTHUMG00000173251 AI050873 NR_110916 LINC01571 HGNC:51384 +HGNC:51385 LINC01572 long intergenic non-protein coding RNA 1572 non-coding RNA RNA, long non-coding Approved 16q22.2 16q22.2 Long intergenic non-protein coding RNAs 1986 2014-10-23 2022-03-30 101927957 ENSG00000261008 OTTHUMG00000173457 NR_126330 34588321 MGI:3037424 LINC01572 HGNC:51385 +HGNC:51388 LINC01574 long intergenic non-protein coding RNA 1574 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 "HI-LNC12|TCONS_00009551" Human Islet Long Non Coding RNA 12 Long intergenic non-protein coding RNAs 1986 2014-11-19 2014-11-19 102577424 ENSG00000248859 OTTHUMG00000163231 NR_108030 23040067 LINC01574 HGNC:51388 +HGNC:27519 LINC01579 long intergenic non-protein coding RNA 1579 non-coding RNA RNA, long non-coding Approved 15q26.1-q26.2 15q26.1-q26.2 Long intergenic non-protein coding RNAs 1986 2014-11-21 2019-06-19 283682 ENSG00000258754 OTTHUMG00000171808 BC037497 NR_138083 31187495 LINC01579 HGNC:27519 +HGNC:51414 LINC01580 long intergenic non-protein coding RNA 1580 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 Long intergenic non-protein coding RNAs 1986 2014-11-21 2014-11-21 101927129 ENSG00000258785 OTTHUMG00000171810 BC021741 NR_120322 LINC01580 HGNC:51414 +HGNC:51415 LINC01581 long intergenic non-protein coding RNA 1581 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 Long intergenic non-protein coding RNAs 1986 2014-11-21 2014-11-21 101927112 ENSG00000259724 OTTHUMG00000172625 BC043440 NR_120320 LINC01581 HGNC:51415 +HGNC:51416 LINC01582 long intergenic non-protein coding RNA 1582 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 TCONS_00023827 Long intergenic non-protein coding RNAs 1986 2014-11-21 2014-11-21 101927332 ENSG00000259611 OTTHUMG00000171877 NR_120325 LINC01582 HGNC:51416 +HGNC:51425 LINC01583 long intergenic non-protein coding RNA 1583 non-coding RNA RNA, long non-coding Approved 15q25.2 15q25.2 Long intergenic non-protein coding RNAs 1986 2014-11-21 2014-11-21 101929690 ENSG00000259518 OTTHUMG00000172173 BC043257 NR_120367 LINC01583 HGNC:51425 +HGNC:51426 LINC01584 long intergenic non-protein coding RNA 1584 non-coding RNA RNA, long non-coding Approved 15q25.3 15q25.3 TCONS_00024001 Long intergenic non-protein coding RNAs 1986 2014-11-21 2014-11-21 101929701 ENSG00000260477 OTTHUMG00000172870 BX116292 NR_120368 LINC01584 HGNC:51426 +HGNC:51432 LINC01585 long intergenic non-protein coding RNA 1585 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Long intergenic non-protein coding RNAs 1986 2014-11-26 2014-11-26 101929765 ENSG00000245479 OTTHUMG00000172362 BC038778 NR_120371 LINC01585 HGNC:51432 +HGNC:51434 LINC01586 long intergenic non-protein coding RNA 1586 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 TCONS_00023252 Long intergenic non-protein coding RNAs 1986 2014-11-26 2014-11-26 101929743 ENSG00000249487 OTTHUMG00000171852 AK054749 NR_120369 LINC01586 HGNC:51434 +HGNC:13716 LINC01587 long intergenic non-protein coding RNA 1587 non-coding RNA RNA, long non-coding Approved 4p16.2 04p16.2 aC1 C4orf6 chromosome 4 open reading frame 6 Long intergenic non-protein coding RNAs 1986 2000-12-04 2014-12-10 2014-12-10 2016-10-05 10141 ENSG00000082929 OTTHUMG00000125492 D82070 NR_126517 Q99440 9016955 LINC01587 HGNC:13716 +HGNC:27503 LINC01588 long intergenic non-protein coding RNA 1588 non-coding RNA RNA, long non-coding Approved 14q21.3 14q21.3 C14orf182 chromosome 14 open reading frame 182 Long intergenic non-protein coding RNAs 1986 2009-02-24 2014-12-10 2014-12-10 2017-05-15 283551 ENSG00000214900 OTTHUMG00000171567 AK090420 NR_126496 HGNC:27503 +HGNC:51520 LINC01589 long intergenic non-protein coding RNA 1589 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 "CTA-941F9.9|TCONS_00029353" Long intergenic non-protein coding RNAs 1986 2015-01-23 2019-08-08 100506737 ENSG00000238120 OTTHUMG00000151331 BC045163 NR_131244 "25482444|31343781" LINC01589 HGNC:51520 +HGNC:21404 LINC01590 long intergenic non-protein coding RNA 1590 non-coding RNA RNA, long non-coding Approved 6q15-q16.1 06q15-q16.1 dJ102H19.4 C6orf164 chromosome 6 open reading frame 164 Long intergenic non-protein coding RNAs 1986 2003-06-12 2015-02-05 2015-02-05 2017-08-31 63914 AK021476 NR_026784 Q5TEZ4 LINC01590 HGNC:21404 +HGNC:27819 LINC01591 long intergenic non-protein coding RNA 1591 non-coding RNA RNA, long non-coding Approved 8q24.22 08q24.22 Long intergenic non-protein coding RNAs 1986 2015-03-05 2015-03-05 286094 ENSG00000254083 OTTHUMG00000164328 NR_026706 12477932 LINC01591 HGNC:27819 +HGNC:51557 LINC01592 long intergenic non-protein coding RNA 1592 non-coding RNA RNA, long non-coding Approved 8q13.2 08q13.2 Long intergenic non-protein coding RNAs 1986 2015-03-05 2015-03-05 100505718 ENSG00000253658 OTTHUMG00000164460 NR_039986 LINC01592 HGNC:51557 +HGNC:51583 LINC01593 long intergenic non-protein coding RNA 1593 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 TCONS_00003364 Long intergenic non-protein coding RNAs 1986 2015-03-11 2015-07-29 107178918 ENSG00000231221 OTTHUMG00000153366 NR_135071 LINC01593 HGNC:51583 +HGNC:51584 LINC01594 long intergenic non-protein coding RNA 1594 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 TCONS_l2_00015893 Long intergenic non-protein coding RNAs 1986 2015-03-11 2015-03-11 102724774 ENSG00000225328 OTTHUMG00000153177 CR748429 NR_131251 LINC01594 HGNC:51584 +HGNC:51586 LINC01595 long intergenic non-protein coding RNA 1595 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 Long intergenic non-protein coding RNAs 1986 2015-03-11 2015-03-11 102725176 ENSG00000259108 OTTHUMG00000170611 "BP420239|AV687190" XR_936005 LINC01595 HGNC:51586 +HGNC:51591 LINC01596 long intergenic non-protein coding RNA 1596 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 TCONS_00007705 Long intergenic non-protein coding RNAs 1986 2015-03-11 2015-03-11 105377617 ENSG00000250666 OTTHUMG00000160584 "BX094246|AI806912" NR_132380 LINC01596 HGNC:51591 +HGNC:51594 LINC01597 long intergenic non-protein coding RNA 1597 non-coding RNA RNA, long non-coding Approved 20q11.1 20q11.1 Long intergenic non-protein coding RNAs 1986 2015-03-12 2015-03-12 400841 ENSG00000205611 OTTHUMG00000133197 AK127732 NR_145432 LINC01597 HGNC:51594 +HGNC:27285 LINC01599 long intergenic non-protein coding RNA 1599 non-coding RNA RNA, long non-coding Approved 14q21.3 14q21.3 C14orf183 chromosome 14 open reading frame 183 Long intergenic non-protein coding RNAs 1986 2009-09-30 2015-03-18 2015-03-18 2017-02-17 196913 AF390030 NR_102736 Q8WXQ3 HGNC:27285 +HGNC:21600 LINC01600 long intergenic non-protein coding RNA 1600 non-coding RNA RNA, long non-coding Approved 6p25.2 06p25.2 "FLJ31934|bA145H9.2" C6orf195 chromosome 6 open reading frame 195 Long intergenic non-protein coding RNAs 1986 2003-06-25 2015-03-18 2015-03-18 2015-03-18 154386 ENSG00000164385 OTTHUMG00000014122 AK056496 NR_131168 Q96MT4 LINC01600 HGNC:21600 +HGNC:51651 LINC01601 long intergenic non-protein coding RNA 1601 non-coding RNA RNA, long non-coding Approved 18q12.3 18q12.3 Long intergenic non-protein coding RNAs 1986 2015-04-23 2015-04-23 105667213 BX119171 NR_131768 HGNC:51651 +HGNC:51634 LINC01602 long intergenic non-protein coding RNA 1602 non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 T1560 Long intergenic non-protein coding RNAs 1986 2015-04-24 2015-04-24 100505477 ENSG00000205293 OTTHUMG00000164281 BC040611 NR_130934 15223130 LINC01602 HGNC:51634 +HGNC:51652 LINC01603 long intergenic non-protein coding RNA 1603 non-coding RNA RNA, long non-coding Approved 8q13.2 08q13.2 Long intergenic non-protein coding RNAs 1986 2015-04-24 2015-04-24 100505739 ENSG00000253479 OTTHUMG00000165095 NR_110433 LINC01603 HGNC:51652 +HGNC:51654 LINC01605 long intergenic non-protein coding RNA 1605 non-coding RNA RNA, long non-coding Approved 8p11.23 08p11.23 "TCONS_00014973|LincDUSP" Long intergenic non-protein coding RNAs 1986 2015-04-24 2018-05-11 100507420 ENSG00000253161 OTTHUMG00000163996 NR_121620 29743621 LINC01605 HGNC:51654 +HGNC:51656 LINC01606 long intergenic non-protein coding RNA 1606 non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 TCONS_l2_00027778 Long intergenic non-protein coding RNAs 1986 2015-04-24 2015-04-24 100507651 ENSG00000253301 OTTHUMG00000164416 NR_038235 LINC01606 HGNC:51656 +HGNC:51660 LINC01607 long intergenic non-protein coding RNA 1607 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 Long intergenic non-protein coding RNAs 1986 2015-04-24 2015-04-24 101927067 ENSG00000272138 OTTHUMG00000185488 NR_125410 LINC01607 HGNC:51660 +HGNC:51662 LINC01608 long intergenic non-protein coding RNA 1608 non-coding RNA RNA, long non-coding Approved 8q23.2 08q23.2 TCONS_00015136 Long intergenic non-protein coding RNAs 1986 2015-04-24 2015-04-24 101927459 ENSG00000253877 OTTHUMG00000164908 NR_125416 LINC01608 HGNC:51662 +HGNC:51663 LINC01609 long intergenic non-protein coding RNA 1609 non-coding RNA RNA, long non-coding Approved 8q23.2-q23.3 08q23.2-q23.3 Long intergenic non-protein coding RNAs 1986 2015-04-24 2018-02-13 101927487 ENSG00000253103 OTTHUMG00000164912 NR_125418 LINC01609 HGNC:51663 +HGNC:51676 LINC01610 long intergenic non-protein coding RNA 1610 non-coding RNA RNA, long non-coding Approved 6q13 06q13 EVADR endogenous retroviral-associated adenocarcinoma RNA Long intergenic non-protein coding RNAs 1986 2022-01-10 2022-01-10 101928353 ENSG00000237643 OTTHUMG00000014989 NR_125857 25821520 +HGNC:51791 LINC01611 long intergenic non-protein coding RNA 1611 non-coding RNA RNA, long non-coding Approved 6q14.3 06q14.3 "RP1-90L14.1|TCONS_l2_00025430" Long intergenic non-protein coding RNAs 1986 2015-05-22 2015-05-22 105377880 ENSG00000231776 OTTHUMG00000015125 NR_132100 25364816 LINC01611 HGNC:51791 +HGNC:51837 LINC01612 long intergenic non-protein coding RNA 1612 non-coding RNA RNA, long non-coding Approved 4q33 04q33 "RP11-789C1.1|TCONS_00008319" Long intergenic non-protein coding RNAs 1986 2015-07-31 2015-07-31 101928223 ENSG00000250266 OTTHUMG00000160893 NR_125889 26045391 LINC01612 HGNC:51837 +HGNC:51842 LINC01613 long intergenic non-protein coding RNA 1613 non-coding RNA RNA, long non-coding Approved 9q33.2 09q33.2 n341773 Long intergenic non-protein coding RNAs 1986 2015-08-20 2015-08-20 106146149 ENSG00000261432 OTTHUMG00000175687 NR_132393 26269497 LINC01613 HGNC:51842 +HGNC:51847 LINC01614 long intergenic non-protein coding RNA 1614 non-coding RNA RNA, long non-coding Approved 2q35 02q35 "LCAL4|TCONS_00003105" lung cancer associated lncRNA 4 Long intergenic non-protein coding RNAs 1986 2015-08-21 2019-07-11 105373869 ENSG00000230838 OTTHUMG00000154838 NR_132383 "25116943|31263577" LINC01614 HGNC:51847 +HGNC:51898 LINC01615 long intergenic non-protein coding RNA 1615 non-coding RNA RNA, long non-coding Approved 6q27 06q27 Long intergenic non-protein coding RNAs 1986 2015-09-17 2015-09-17 101929484 ENSG00000223485 OTTHUMG00000016054 CB123670 NR_132622 LINC01615 HGNC:51898 +HGNC:51900 LINC01616 long intergenic non-protein coding RNA 1616 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 n341006 Long intergenic non-protein coding RNAs 1986 2015-09-17 2015-09-17 106456574 ENSG00000261340 OTTHUMG00000173210 AK095844 NR_132652 26318290 LINC01616 HGNC:51900 +HGNC:30442 LINC01617 long intergenic non-protein coding RNA 1617 non-coding RNA RNA, long non-coding Approved 8q21.11 08q21.11 XLOC_006844 "C8orf23|NCRNA00249" "chromosome 8 open reading frame 23|non-protein coding RNA 249" Long intergenic non-protein coding RNAs 1986 2015-09-18 2010-06-02 2015-09-18 101926947 AA861243 NR_147034 26328256 HGNC:30442 +HGNC:27195 LINC01618 long intergenic non-protein coding RNA 1618 non-coding RNA RNA, long non-coding Approved 4q12 04q12 LOC152578 Long intergenic non-protein coding RNAs 1986 2015-09-18 2015-09-18 152578 ENSG00000250302 OTTHUMG00000160696 NR_040106 26328256 LINC01618 HGNC:27195 +HGNC:27409 LINC01619 long intergenic non-protein coding RNA 1619 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 C12orf79 chromosome 12 open reading frame 79 Long intergenic non-protein coding RNAs 1986 2013-06-06 2015-09-24 2015-09-24 2015-09-24 256021 ENSG00000257242 OTTHUMG00000170091 NR_132339 G3V211 LINC01619 HGNC:27409 +HGNC:16195 LINC01620 long intergenic non-protein coding RNA 1620 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 dJ1013A22.3 C20orf62 chromosome 20 open reading frame 62 Long intergenic non-protein coding RNAs 1986 2001-07-17 2015-09-24 2015-09-24 2017-02-17 140834 ENSG00000168746 OTTHUMG00000130221 NR_132342 HGNC:16195 +HGNC:14109 LINC01621 long intergenic non-protein coding RNA 1621 non-coding RNA RNA, long non-coding Approved 6q14.1 06q14.1 C6orf7 chromosome 6 open reading frame 7 Long intergenic non-protein coding RNAs 1986 2000-12-05 2015-10-07 2015-10-07 2015-10-07 89758 ENSG00000235357 OTTHUMG00000015082 NR_131786 LINC01621 HGNC:14109 +HGNC:27768 LINC01622 long intergenic non-protein coding RNA 1622 non-coding RNA RNA, long non-coding Approved 6p25.3 06p25.3 TCONS_00011202 Long intergenic non-protein coding RNAs 1986 2015-10-15 2015-10-15 285768 ENSG00000286785 NR_027115 12477932 LINC01622 HGNC:27768 +HGNC:52050 LINC01623 long intergenic non-protein coding RNA 1623 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Long intergenic non-protein coding RNAs 1986 2015-10-15 2015-10-15 401242 ENSG00000225595 OTTHUMG00000084882 NR_033379 LINC01623 HGNC:52050 +HGNC:52051 LINC01624 long intergenic non-protein coding RNA 1624 non-coding RNA RNA, long non-coding Approved 6q27 06q27 TCONS_00011425 Long intergenic non-protein coding RNAs 1986 2015-10-15 2015-10-15 401289 ENSG00000227508 OTTHUMG00000016077 NR_104177 LINC01624 HGNC:52051 +HGNC:52052 LINC01625 long intergenic non-protein coding RNA 1625 non-coding RNA RNA, long non-coding Approved 6q24.1 06q24.1 TCONS_00011139 Long intergenic non-protein coding RNAs 1986 2015-10-15 2015-10-15 645434 ENSG00000238099 OTTHUMG00000015693 NR_033919 LINC01625 HGNC:52052 +HGNC:52257 LINC01626 long intergenic non-protein coding RNA 1626 non-coding RNA RNA, long non-coding Approved 6q13 06q13 Long intergenic non-protein coding RNAs 1986 2015-10-30 2017-05-11 102724000 ENSG00000223765 OTTHUMG00000015005 NR_121615 LINC01626 HGNC:52257 +HGNC:52258 LINC01627 long intergenic non-protein coding RNA 1627 non-coding RNA RNA, long non-coding Approved 9p13.2 09p13.2 RP11-397D12.4 Long intergenic non-protein coding RNAs 1986 2015-11-04 2015-11-04 105376036 ENSG00000224648 OTTHUMG00000019916 XR_002956875 26393913 LINC01627 HGNC:52258 +HGNC:52259 LINC01628 long intergenic non-protein coding RNA 1628 non-coding RNA RNA, long non-coding Approved 2p14 02p14 AC007403.1 Long intergenic non-protein coding RNAs 1986 2015-11-04 2015-11-04 102724321 ENSG00000232688 OTTHUMG00000152852 NR_110600 26393913 LINC01628 HGNC:52259 +HGNC:52260 LINC01629 long intergenic non-protein coding RNA 1629 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 linc-KIAA1737-2 Long intergenic non-protein coding RNAs 1986 2015-11-04 2015-11-04 105370578 ENSG00000258602 OTTHUMG00000171577 NR_133913 26400545 LINC01629 HGNC:52260 +HGNC:52295 LINC01630 long intergenic non-protein coding RNA 1630 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 LOC100287225 Long intergenic non-protein coding RNAs 1986 2016-05-25 2017-02-16 100287225 ENSG00000227115 OTTHUMG00000179692 NR_040074 26429648 HGNC:52295 +HGNC:52419 LINC01632 long intergenic non-protein coding RNA 1632 non-coding RNA RNA, long non-coding Approved 1q21.1 01q21.1 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101929826 ENSG00000277199 OTTHUMG00000189067 XR_001737747 HGNC:52419 +HGNC:52420 LINC01633 long intergenic non-protein coding RNA 1633 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101929069 ENSG00000260976 OTTHUMG00000176171 NR_146489 HGNC:52420 +HGNC:52421 LINC01634 long intergenic non-protein coding RNA 1634 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 100192420 ENSG00000235295 OTTHUMG00000153506 NR_024417 HGNC:52421 +HGNC:52422 LINC01635 long intergenic non-protein coding RNA 1635 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101928043 ENSG00000228397 OTTHUMG00000002754 NR_110692 HGNC:52422 +HGNC:52424 LINC01637 long intergenic non-protein coding RNA 1637 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101928891 ENSG00000237476 OTTHUMG00000150805 NR_110537 HGNC:52424 +HGNC:52425 LINC01638 long intergenic non-protein coding RNA 1638 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Long intergenic non-protein coding RNAs 1986 2016-11-07 2021-03-15 105372978 ENSG00000233521 OTTHUMG00000150955 NR_171021 33714208 HGNC:52425 +HGNC:52426 LINC01639 long intergenic non-protein coding RNA 1639 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 105373054 ENSG00000236117 OTTHUMG00000150565 NR_146918 HGNC:52426 +HGNC:52427 LINC01640 long intergenic non-protein coding RNA 1640 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 105373006 ENSG00000231253 OTTHUMG00000150002 NR_134617 HGNC:52427 +HGNC:52428 LINC01641 long intergenic non-protein coding RNA 1641 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 107985463 ENSG00000234277 OTTHUMG00000037611 XR_001737828 HGNC:52428 +HGNC:52430 LINC01643 long intergenic non-protein coding RNA 1643 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 105373010 ENSG00000236052 OTTHUMG00000150928 XR_007068073 HGNC:52430 +HGNC:52431 LINC01644 long intergenic non-protein coding RNA 1644 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Long intergenic non-protein coding RNAs 1986 2016-11-07 2017-06-21 101927722 ENSG00000218357 OTTHUMG00000150324 NR_109967 HGNC:52431 +HGNC:52432 LINC01645 long intergenic non-protein coding RNA 1645 non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 102724661 ENSG00000224968 OTTHUMG00000040861 NR_126001 HGNC:52432 +HGNC:52433 LINC01646 long intergenic non-protein coding RNA 1646 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 105376679 ENSG00000232596 OTTHUMG00000000647 NR_147025 HGNC:52433 +HGNC:52434 LINC01647 long intergenic non-protein coding RNA 1647 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101929181 ENSG00000235643 OTTHUMG00000002076 NR_104624 HGNC:52434 +HGNC:52435 LINC01648 long intergenic non-protein coding RNA 1648 non-coding RNA RNA, long non-coding Approved 1p35.2 01p35.2 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101929406 ENSG00000233399 OTTHUMG00000003683 NR_110790 HGNC:52435 +HGNC:52436 LINC01649 long intergenic non-protein coding RNA 1649 non-coding RNA RNA, long non-coding Approved 1p13.1 01p13.1 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101928995 ENSG00000228127 OTTHUMG00000012009 NR_125969 HGNC:52436 +HGNC:52437 LINC01650 long intergenic non-protein coding RNA 1650 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101928169 ENSG00000230434 OTTHUMG00000010912 NR_146486 HGNC:52437 +HGNC:52439 LINC01651 long intergenic non-protein coding RNA 1651 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 105372944 ENSG00000279920 OTTHUMG00000189206 NR_170329 HGNC:52439 +HGNC:52441 LINC01653 long intergenic non-protein coding RNA 1653 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101929631 ENSG00000232100 OTTHUMG00000039496 NR_110794 HGNC:52441 +HGNC:52442 LINC01654 long intergenic non-protein coding RNA 1654 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101927876 ENSG00000261781 OTTHUMG00000175750 NR_125946 HGNC:52442 +HGNC:52443 LINC01655 long intergenic non-protein coding RNA 1655 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101929771 ENSG00000227925 OTTHUMG00000037268 NR_125989 HGNC:52443 +HGNC:52444 LINC01656 long intergenic non-protein coding RNA 1656 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Long intergenic non-protein coding RNAs 1986 2016-11-07 2017-06-21 101927526 ENSG00000232655 OTTHUMG00000150468 NR_109966 HGNC:52444 +HGNC:52445 LINC01657 long intergenic non-protein coding RNA 1657 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101928751 ENSG00000224718 OTTHUMG00000034949 NR_125964 HGNC:52445 +HGNC:52447 LINC01659 long intergenic non-protein coding RNA 1659 non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 Long intergenic non-protein coding RNAs 1986 2016-11-07 2017-06-21 101929374 ENSG00000234928 OTTHUMG00000150668 NR_110538 HGNC:52447 +HGNC:52449 LINC01661 long intergenic non-protein coding RNA 1661 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 105378889 ENSG00000237460 OTTHUMG00000000497 NR_147165 HGNC:52449 +HGNC:52452 LINC01664 long intergenic non-protein coding RNA 1664 non-coding RNA RNA, long non-coding Approved 22q11.1 22q11.1 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 100996342 ENSG00000235478 OTTHUMG00000153502 NR_103793 HGNC:52452 +HGNC:52453 LINC01665 long intergenic non-protein coding RNA 1665 non-coding RNA RNA, long non-coding Approved 22q11.1 22q11.1 Long intergenic non-protein coding RNAs 1986 2016-11-07 2017-06-21 101929350 ENSG00000235343 OTTHUMG00000153504 NR_134584 HGNC:52453 +HGNC:52454 LINC01666 long intergenic non-protein coding RNA 1666 non-coding RNA RNA, long non-coding Approved 21p11.2 21p11.2 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 105372730 ENSG00000279579 OTTHUMG00000189439 XR_001754941 HGNC:52454 +HGNC:52455 LINC01667 long intergenic non-protein coding RNA 1667 non-coding RNA RNA, long non-coding Approved 21p11.2 21p11.2 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 441058 ENSG00000280081 OTTHUMG00000189457 NR_038377 HGNC:52455 +HGNC:52456 LINC01668 long intergenic non-protein coding RNA 1668 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 101928311 ENSG00000283051 OTTHUMG00000191496 NR_135517 HGNC:52456 +HGNC:52458 LINC01670 long intergenic non-protein coding RNA 1670 non-coding RNA RNA, long non-coding Approved 21p12 21p12 Long intergenic non-protein coding RNAs 1986 2016-11-07 2016-11-07 105379487 ENSG00000279094 OTTHUMG00000189365 XR_951086 HGNC:52458 +HGNC:52459 LINC01671 long intergenic non-protein coding RNA 1671 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "BC041455|AP001626.1" Long intergenic non-protein coding RNAs 1986 2016-11-08 2018-04-27 101928233 ENSG00000225431 OTTHUMG00000086813 NR_131192 "28003470|29693709" HGNC:52459 +HGNC:52460 LINC01672 long intergenic non-protein coding RNA 1672 non-coding RNA RNA, long non-coding Approved 1p36.31 01p36.31 NMR NSUN2 methylated lncRNA Long intergenic non-protein coding RNAs 1986 2016-11-08 2018-05-16 100505887 ENSG00000228750 OTTHUMG00000001785 NR_104620 29763634 HGNC:52460 +HGNC:52461 LINC01673 long intergenic non-protein coding RNA 1673 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105372763 ENSG00000234052 OTTHUMG00000078707 XR_007067832 HGNC:52461 +HGNC:52462 LINC01674 long intergenic non-protein coding RNA 1674 non-coding RNA RNA, long non-coding Approved 21q11.2 21q11.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 102724188 ENSG00000228159 OTTHUMG00000074207 NR_110544 HGNC:52462 +HGNC:52463 LINC01675 long intergenic non-protein coding RNA 1675 non-coding RNA RNA, long non-coding Approved 1q24.1 01q24.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105371590 ENSG00000234142 OTTHUMG00000033267 NR_146890 HGNC:52463 +HGNC:52464 LINC01676 long intergenic non-protein coding RNA 1676 non-coding RNA RNA, long non-coding Approved 1p21.1 01p21.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928476 ENSG00000230768 OTTHUMG00000011003 NR_125954 HGNC:52464 +HGNC:52465 LINC01677 long intergenic non-protein coding RNA 1677 non-coding RNA RNA, long non-coding Approved 1p21.1 01p21.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378884 ENSG00000233047 OTTHUMG00000011006 NR_146609 HGNC:52465 +HGNC:52466 LINC01678 long intergenic non-protein coding RNA 1678 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105377138 ENSG00000225331 OTTHUMG00000086913 NR_146631 HGNC:52466 +HGNC:52469 LINC01679 long intergenic non-protein coding RNA 1679 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928399 ENSG00000237989 OTTHUMG00000086865 NR_131902 HGNC:52469 +HGNC:52467 LINC01680 long intergenic non-protein coding RNA 1680 non-coding RNA RNA, long non-coding Approved 1q31.2 01q31.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105371660 ENSG00000233882 OTTHUMG00000041127 NR_146892 HGNC:52467 +HGNC:52468 LINC01681 long intergenic non-protein coding RNA 1681 non-coding RNA RNA, long non-coding Approved 1q24.2 01q24.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105371609 ENSG00000233985 OTTHUMG00000035971 NR_146891 HGNC:52468 +HGNC:52470 LINC01682 long intergenic non-protein coding RNA 1682 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927504 ENSG00000227043 OTTHUMG00000039465 NR_146473 HGNC:52470 +HGNC:52471 LINC01683 long intergenic non-protein coding RNA 1683 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105372746 ENSG00000233480 OTTHUMG00000074607 NR_146910 HGNC:52471 +HGNC:52472 LINC01684 long intergenic non-protein coding RNA 1684 non-coding RNA RNA, long non-coding Approved 21q21.2 21q21.2 lnc-JAM2-6 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-03-03 105372751 ENSG00000237484 OTTHUMG00000078326 NR_135519 28206970 HGNC:52472 +HGNC:52473 LINC01685 long intergenic non-protein coding RNA 1685 non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378656 ENSG00000238063 OTTHUMG00000000481 NR_146761 HGNC:52473 +HGNC:27643 LINC01686 long intergenic non-protein coding RNA 1686 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 284648 ENSG00000261504 OTTHUMG00000176155 NR_036490 HGNC:27643 +HGNC:52474 LINC01687 long intergenic non-protein coding RNA 1687 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927843 ENSG00000233215 OTTHUMG00000078243 NR_109959 HGNC:52474 +HGNC:52475 LINC01688 long intergenic non-protein coding RNA 1688 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105371644 ENSG00000227181 OTTHUMG00000041043 NR_146548 HGNC:52475 +HGNC:52476 LINC01689 long intergenic non-protein coding RNA 1689 non-coding RNA RNA, long non-coding Approved 21q21.2 21q21.2 AP000469.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-02-09 101927869 ENSG00000224832 OTTHUMG00000078332 NR_109963 28128360 HGNC:52476 +HGNC:52477 LINC01690 long intergenic non-protein coding RNA 1690 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 Long intergenic non-protein coding RNAs 1986 2017-06-19 2017-06-19 102724502 ENSG00000228961 OTTHUMG00000065034 NR_135522 HGNC:52477 +HGNC:52479 LINC01691 long intergenic non-protein coding RNA 1691 non-coding RNA RNA, long non-coding Approved 1p11.2 01p11.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 107985195 ENSG00000224857 OTTHUMG00000013087 HGNC:52479 +HGNC:52480 LINC01692 long intergenic non-protein coding RNA 1692 non-coding RNA RNA, long non-coding Approved 21q21.2 21q21.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 339622 ENSG00000226983 OTTHUMG00000078331 NR_046198 HGNC:52480 +HGNC:52478 LINC01693 long intergenic non-protein coding RNA 1693 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105748977 ENSG00000227764 OTTHUMG00000036999 NR_131925 HGNC:52478 +HGNC:52481 LINC01694 long intergenic non-protein coding RNA 1694 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105372840 ENSG00000233922 OTTHUMG00000090408 NR_146912 HGNC:52481 +HGNC:52483 LINC01695 long intergenic non-protein coding RNA 1695 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927973 ENSG00000236532 OTTHUMG00000078706 NR_126012 HGNC:52483 +HGNC:52484 LINC01696 long intergenic non-protein coding RNA 1696 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105372897 ENSG00000227940 OTTHUMG00000036265 NR_135085 HGNC:52484 +HGNC:52485 LINC01697 long intergenic non-protein coding RNA 1697 non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 284825 ENSG00000232079 OTTHUMG00000078709 NR_126010 HGNC:52485 +HGNC:52486 LINC01698 long intergenic non-protein coding RNA 1698 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101929476 ENSG00000231648 OTTHUMG00000036266 NR_146491 HGNC:52486 +HGNC:52487 LINC01699 long intergenic non-protein coding RNA 1699 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 GM140 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 100287948 ENSG00000179452 OTTHUMG00000035177 NR_046249 HGNC:52487 +HGNC:52488 LINC01700 long intergenic non-protein coding RNA 1700 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928435 ENSG00000232837 OTTHUMG00000066032 NR_109962 HGNC:52488 +HGNC:52489 LINC01701 long intergenic non-protein coding RNA 1701 non-coding RNA RNA, long non-coding Approved 1q31.1 01q31.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 107985456 ENSG00000232212 OTTHUMG00000035526 XR_001737811 HGNC:52489 +HGNC:52490 LINC01702 long intergenic non-protein coding RNA 1702 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 102724481 ENSG00000235200 OTTHUMG00000009373 XR_007066157 HGNC:52490 +HGNC:52491 LINC01703 long intergenic non-protein coding RNA 1703 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 lncPARP1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2018-06-13 105373113 ENSG00000225518 OTTHUMG00000041341 NR_146920 29776974 HGNC:52491 +HGNC:52492 LINC01704 long intergenic non-protein coding RNA 1704 non-coding RNA RNA, long non-coding Approved 1q23.1 01q23.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 646268 ENSG00000231666 OTTHUMG00000022441 NR_033946 HGNC:52492 +HGNC:52493 LINC01705 long intergenic non-protein coding RNA 1705 non-coding RNA RNA, long non-coding Approved 1q41 01q41 RP11-400N13.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2018-04-27 107985307 ENSG00000232679 OTTHUMG00000037425 XR_001738485 29693709 HGNC:52493 +HGNC:52494 LINC01706 long intergenic non-protein coding RNA 1706 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 101929312 ENSG00000224711 OTTHUMG00000031838 NR_110610 HGNC:52494 +HGNC:52495 LINC01707 long intergenic non-protein coding RNA 1707 non-coding RNA RNA, long non-coding Approved 1p31.2 01p31.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378785 ENSG00000223883 OTTHUMG00000009216 NR_146608 HGNC:52495 +HGNC:52496 LINC01708 long intergenic non-protein coding RNA 1708 non-coding RNA RNA, long non-coding Approved 1p21.2 01p21.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928270 ENSG00000224445 OTTHUMG00000010769 NR_125951 HGNC:52496 +HGNC:52497 LINC01709 long intergenic non-protein coding RNA 1709 non-coding RNA RNA, long non-coding Approved 1p21.2 01p21.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378872 ENSG00000226715 OTTHUMG00000010944 XR_947644 HGNC:52497 +HGNC:52498 LINC01710 long intergenic non-protein coding RNA 1710 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105372925 ENSG00000225561 OTTHUMG00000041229 NR_146917 HGNC:52498 +HGNC:28663 LINC01711 long intergenic non-protein coding RNA 1711 non-coding RNA RNA, long non-coding Approved 20q13.32 20q13.32 MGC4294 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-01-20 79160 ENSG00000268941 OTTHUMG00000187341 NR_125359 12477932 HGNC:28663 +HGNC:52499 LINC01712 long intergenic non-protein coding RNA 1712 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927542 ENSG00000231364 OTTHUMG00000009772 NR_146478 HGNC:52499 +HGNC:52500 LINC01713 long intergenic non-protein coding RNA 1713 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105372516 ENSG00000228482 OTTHUMG00000031832 NR_146909 HGNC:52500 +HGNC:52501 LINC01714 long intergenic non-protein coding RNA 1714 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 Long intergenic non-protein coding RNAs 1986 2016-11-08 2020-01-09 102724539 ENSG00000227634 OTTHUMG00000001769 NR_125998 31902744 HGNC:52501 +HGNC:52503 LINC01716 long intergenic non-protein coding RNA 1716 non-coding RNA RNA, long non-coding Approved 20q13.31 20q13.31 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 105372682 ENSG00000225657 OTTHUMG00000032803 NR_136537 HGNC:52503 +HGNC:52504 LINC01717 long intergenic non-protein coding RNA 1717 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105372893 ENSG00000232812 OTTHUMG00000036136 NR_146914 HGNC:52504 +HGNC:52505 LINC01718 long intergenic non-protein coding RNA 1718 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 100506470 ENSG00000229606 OTTHUMG00000032884 NR_109919 HGNC:52505 +HGNC:52506 LINC01719 long intergenic non-protein coding RNA 1719 non-coding RNA RNA, long non-coding Approved 1q21.1 01q21.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928979 ENSG00000233396 OTTHUMG00000042244 NR_125967 HGNC:52506 +HGNC:52507 LINC01720 long intergenic non-protein coding RNA 1720 non-coding RNA RNA, long non-coding Approved 1q31.1-q31.2 01q31.1-q31.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2018-02-13 440704 ENSG00000231175 OTTHUMG00000035556 NR_033922 HGNC:52507 +HGNC:52508 LINC01721 long intergenic non-protein coding RNA 1721 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 400839 ENSG00000230133 OTTHUMG00000032098 NR_040102 HGNC:52508 +HGNC:52510 LINC01722 long intergenic non-protein coding RNA 1722 non-coding RNA RNA, long non-coding Approved 20p12.1 20p12.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101929486 ENSG00000233048 OTTHUMG00000031897 NR_109868 HGNC:52510 +HGNC:52511 LINC01723 long intergenic non-protein coding RNA 1723 non-coding RNA RNA, long non-coding Approved 20p12.1 20p12.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 100505515 ENSG00000234265 OTTHUMG00000031895 NR_109870 HGNC:52511 +HGNC:52512 LINC01724 long intergenic non-protein coding RNA 1724 non-coding RNA RNA, long non-coding Approved 1q31.3 01q31.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105371673 ENSG00000227421 OTTHUMG00000035609 NR_146895 HGNC:52512 +HGNC:52513 LINC01725 long intergenic non-protein coding RNA 1725 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927587 ENSG00000233008 OTTHUMG00000009930 NR_119375 HGNC:52513 +HGNC:52514 LINC01726 long intergenic non-protein coding RNA 1726 non-coding RNA RNA, long non-coding Approved 20p11.22 20p11.22 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 101929608 ENSG00000280350 OTTHUMG00000189115 NR_109878 HGNC:52514 +HGNC:52515 LINC01727 long intergenic non-protein coding RNA 1727 non-coding RNA RNA, long non-coding Approved 20p11.22 20p11.22 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 101929625 ENSG00000279082 OTTHUMG00000189116 NR_109880 HGNC:52515 +HGNC:52516 LINC01728 long intergenic non-protein coding RNA 1728 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 105372626 ENSG00000233277 OTTHUMG00000032515 NR_134577 HGNC:52516 +HGNC:52517 LINC01729 long intergenic non-protein coding RNA 1729 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 101929207 ENSG00000225640 OTTHUMG00000031808 NR_109860 HGNC:52517 +HGNC:52518 LINC01730 long intergenic non-protein coding RNA 1730 non-coding RNA RNA, long non-coding Approved 20p13 20p13 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101929125 ENSG00000275491 OTTHUMG00000186580 NR_109859 HGNC:52518 +HGNC:52519 LINC01731 long intergenic non-protein coding RNA 1731 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105371226 ENSG00000234283 OTTHUMG00000014090 XR_007066573 HGNC:52519 +HGNC:52520 LINC01732 long intergenic non-protein coding RNA 1732 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928973 ENSG00000237292 OTTHUMG00000035180 NR_125966 HGNC:52520 +HGNC:52521 LINC01733 long intergenic non-protein coding RNA 1733 non-coding RNA RNA, long non-coding Approved 20p11.1 20p11.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 101926955 ENSG00000226203 OTTHUMG00000150168 NR_110003 HGNC:52521 +HGNC:52522 LINC01734 long intergenic non-protein coding RNA 1734 non-coding RNA RNA, long non-coding Approved 20q12 20q12 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 339568 ENSG00000230324 OTTHUMG00000032466 NR_027124 HGNC:52522 +HGNC:52523 LINC01735 long intergenic non-protein coding RNA 1735 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 107985254 ENSG00000261453 OTTHUMG00000036132 XR_001738430 HGNC:52523 +HGNC:52524 LINC01736 long intergenic non-protein coding RNA 1736 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927532 ENSG00000228058 OTTHUMG00000037758 NR_135116 HGNC:52524 +HGNC:52525 LINC01737 long intergenic non-protein coding RNA 1737 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927553 ENSG00000232964 OTTHUMG00000037760 NR_146479 HGNC:52525 +HGNC:52526 LINC01738 long intergenic non-protein coding RNA 1738 non-coding RNA RNA, long non-coding Approved 1p33 01p33 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 107984953 ENSG00000227947 OTTHUMG00000007956 XR_001738040 HGNC:52526 +HGNC:52527 LINC01739 long intergenic non-protein coding RNA 1739 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378769 ENSG00000229537 OTTHUMG00000009147 NR_146605 HGNC:52527 +HGNC:52528 LINC01740 long intergenic non-protein coding RNA 1740 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101929565 ENSG00000228067 OTTHUMG00000036749 NR_125985 HGNC:52528 +HGNC:52529 LINC01741 long intergenic non-protein coding RNA 1741 non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928778 ENSG00000236720 OTTHUMG00000040863 NR_110722 HGNC:52529 +HGNC:52530 LINC01742 long intergenic non-protein coding RNA 1742 non-coding RNA RNA, long non-coding Approved 20q13.32 20q13.32 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 2016-11-08 105376992 ENSG00000275852 OTTHUMG00000186963 NR_147083 HGNC:52530 +HGNC:52531 LINC01743 long intergenic non-protein coding RNA 1743 non-coding RNA RNA, long non-coding Approved 1q44 01q44 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 255654 ENSG00000242042 OTTHUMG00000040555 NR_040002 HGNC:52531 +HGNC:52532 LINC01744 long intergenic non-protein coding RNA 1744 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927683 ENSG00000236497 OTTHUMG00000037825 NR_110683 HGNC:52532 +HGNC:52533 LINC01745 long intergenic non-protein coding RNA 1745 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105373199 ENSG00000225919 OTTHUMG00000037823 NR_146922 HGNC:52533 +HGNC:52534 LINC01746 long intergenic non-protein coding RNA 1746 non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105372608 ENSG00000274469 OTTHUMG00000185859 XR_936701 HGNC:52534 +HGNC:52536 LINC01747 long intergenic non-protein coding RNA 1747 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 105372566 ENSG00000230400 OTTHUMG00000032047 NR_146527 HGNC:52536 +HGNC:52535 LINC01748 long intergenic non-protein coding RNA 1748 non-coding RNA RNA, long non-coding Approved 1p32.1 01p32.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378763 ENSG00000226476 OTTHUMG00000009978 NR_146508 HGNC:52535 +HGNC:52537 LINC01749 long intergenic non-protein coding RNA 1749 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 63930 ENSG00000272259 OTTHUMG00000185413 NR_033370 HGNC:52537 +HGNC:52538 LINC01750 long intergenic non-protein coding RNA 1750 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 643355 ENSG00000231437 OTTHUMG00000011992 NR_145438 HGNC:52538 +HGNC:52539 LINC01751 long intergenic non-protein coding RNA 1751 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 101929288 ENSG00000261249 OTTHUMG00000175573 NR_135005 HGNC:52539 +HGNC:52540 LINC01752 long intergenic non-protein coding RNA 1752 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101929395 ENSG00000224961 OTTHUMG00000031876 NR_110611 HGNC:52540 +HGNC:52541 LINC01753 long intergenic non-protein coding RNA 1753 non-coding RNA RNA, long non-coding Approved 1p32.2 01p32.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378739 ENSG00000230250 OTTHUMG00000008244 NR_147162 HGNC:52541 +HGNC:52542 LINC01754 long intergenic non-protein coding RNA 1754 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 Long intergenic non-protein coding RNAs 1986 2016-11-08 2017-06-21 102723442 ENSG00000224565 OTTHUMG00000032669 NR_146494 HGNC:52542 +HGNC:52543 LINC01755 long intergenic non-protein coding RNA 1755 non-coding RNA RNA, long non-coding Approved 1p32.2 01p32.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378738 ENSG00000233079 OTTHUMG00000008245 NR_147161 HGNC:52543 +HGNC:52545 LINC01756 long intergenic non-protein coding RNA 1756 non-coding RNA RNA, long non-coding Approved 1p35.3 01p35.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928460 ENSG00000230523 OTTHUMG00000003931 NR_110758 HGNC:52545 +HGNC:52546 LINC01757 long intergenic non-protein coding RNA 1757 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105376827 ENSG00000228105 OTTHUMG00000002707 NR_147205 HGNC:52546 +HGNC:52547 LINC01758 long intergenic non-protein coding RNA 1758 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378788 ENSG00000229639 OTTHUMG00000009217 NR_147164 HGNC:52547 +HGNC:52549 LINC01760 long intergenic non-protein coding RNA 1760 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 100996630 ENSG00000228504 OTTHUMG00000010911 NR_135588 HGNC:52549 +HGNC:52551 LINC01761 long intergenic non-protein coding RNA 1761 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 440594 ENSG00000233907 OTTHUMG00000010909 NR_033966 HGNC:52551 +HGNC:52552 LINC01762 long intergenic non-protein coding RNA 1762 non-coding RNA RNA, long non-coding Approved 1p13.1 01p13.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101929023 ENSG00000233154 OTTHUMG00000014035 NR_125972 HGNC:52552 +HGNC:52554 LINC01763 long intergenic non-protein coding RNA 1763 non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378854 ENSG00000225446 OTTHUMG00000010019 NR_146610 HGNC:52554 +HGNC:52553 LINC01764 long intergenic non-protein coding RNA 1764 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105372290 ENSG00000267308 OTTHUMG00000160750 HGNC:52553 +HGNC:52555 LINC01765 long intergenic non-protein coding RNA 1765 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378916 ENSG00000233730 OTTHUMG00000011879 XR_947722 HGNC:52555 +HGNC:52556 LINC01766 long intergenic non-protein coding RNA 1766 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 102723617 ENSG00000224910 OTTHUMG00000048109 NR_110750 HGNC:52556 +HGNC:52557 LINC01767 long intergenic non-protein coding RNA 1767 non-coding RNA RNA, long non-coding Approved 1p32.2 01p32.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378744 ENSG00000223956 OTTHUMG00000008128 NR_147163 HGNC:52557 +HGNC:52558 LINC01768 long intergenic non-protein coding RNA 1768 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2018-09-07 107985167 ENSG00000228420 OTTHUMG00000011637 XR_001738180 HGNC:52558 +HGNC:52560 LINC01770 long intergenic non-protein coding RNA 1770 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 102724312 ENSG00000225285 OTTHUMG00000002915 NR_125994 HGNC:52560 +HGNC:52562 LINC01772 long intergenic non-protein coding RNA 1772 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 ENSG00000226029 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-12-21 107984921 ENSG00000226029 OTTHUMG00000002314 NR_147210 27992375 HGNC:52562 +HGNC:52563 LINC01773 long intergenic non-protein coding RNA 1773 non-coding RNA RNA, long non-coding Approved 1p22.3-p22.2 01p22.3-p22.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2020-01-24 107985519 OTTHUMG00000037985 XR_001737677 HGNC:52563 +HGNC:52564 LINC01774 long intergenic non-protein coding RNA 1774 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105372894 ENSG00000236950 OTTHUMG00000036137 NR_146915 HGNC:52564 +HGNC:52565 LINC01775 long intergenic non-protein coding RNA 1775 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928602 ENSG00000267201 OTTHUMG00000180433 NR_134931 HGNC:52565 +HGNC:52566 LINC01776 long intergenic non-protein coding RNA 1776 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 729987 ENSG00000226053 OTTHUMG00000010681 NR_046088 HGNC:52566 +HGNC:52567 LINC01777 long intergenic non-protein coding RNA 1777 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 284661 ENSG00000235054 OTTHUMG00000000733 NR_027088 HGNC:52567 +HGNC:52568 LINC01778 long intergenic non-protein coding RNA 1778 non-coding RNA RNA, long non-coding Approved 1p35.2 01p35.2 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378622 ENSG00000223382 OTTHUMG00000003749 NR_146732 HGNC:52568 +HGNC:52569 LINC01779 long intergenic non-protein coding RNA 1779 non-coding RNA RNA, long non-coding Approved 1p13.1 01p13.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 107985190 ENSG00000235933 OTTHUMG00000012112 HGNC:52569 +HGNC:52570 LINC01780 long intergenic non-protein coding RNA 1780 non-coding RNA RNA, long non-coding Approved 1p12 01p12 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105378934 ENSG00000232650 OTTHUMG00000012409 NR_146623 HGNC:52570 +HGNC:52571 LINC01781 long intergenic non-protein coding RNA 1781 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-15 101927412 ENSG00000234184 OTTHUMG00000000507 NR_125940 HGNC:52571 +HGNC:52572 LINC01782 long intergenic non-protein coding RNA 1782 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927411 ENSG00000267204 OTTHUMG00000180236 NR_110694 HGNC:52572 +HGNC:52573 LINC01783 long intergenic non-protein coding RNA 1783 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 100132147 ENSG00000233421 OTTHUMG00000002488 NR_135764 HGNC:52573 +HGNC:52574 LINC01784 long intergenic non-protein coding RNA 1784 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105376745 ENSG00000228338 OTTHUMG00000041465 NR_146629 HGNC:52574 +HGNC:25060 LINC01785 long intergenic non-protein coding RNA 1785 non-coding RNA RNA, long non-coding Approved 19p12 19p12 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-12-02 374890 ENSG00000268038 OTTHUMG00000182985 NR_135233 12477932 HGNC:25060 +HGNC:52575 LINC01786 long intergenic non-protein coding RNA 1786 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928895 ENSG00000230415 OTTHUMG00000002234 HGNC:52575 +HGNC:52576 LINC01787 long intergenic non-protein coding RNA 1787 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101928241 ENSG00000231987 OTTHUMG00000010690 NR_110693 HGNC:52576 +HGNC:52577 LINC01788 long intergenic non-protein coding RNA 1788 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927244 ENSG00000229051 OTTHUMG00000009349 NR_125938 HGNC:52577 +HGNC:52578 LINC01789 long intergenic non-protein coding RNA 1789 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 105373536 ENSG00000229457 OTTHUMG00000153205 XR_001739630 HGNC:52578 +HGNC:52579 LINC01790 long intergenic non-protein coding RNA 1790 non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 101927431 ENSG00000230173 OTTHUMG00000154367 NR_110223 HGNC:52579 +HGNC:52581 LINC01791 long intergenic non-protein coding RNA 1791 non-coding RNA RNA, long non-coding Approved 19q12 19q12 Long intergenic non-protein coding RNAs 1986 2016-11-08 2016-11-08 107985312 ENSG00000267777 OTTHUMG00000182320 NR_147209 HGNC:52581 +HGNC:52582 LINC01792 long intergenic non-protein coding RNA 1792 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-09 100507140 ENSG00000237166 OTTHUMG00000154537 NR_037886 HGNC:52582 +HGNC:52583 LINC01793 long intergenic non-protein coding RNA 1793 non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-09 101927285 ENSG00000222030 OTTHUMG00000152615 NR_110219 HGNC:52583 +HGNC:52584 LINC01794 long intergenic non-protein coding RNA 1794 non-coding RNA RNA, long non-coding Approved 2p22.1 02p22.1 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-09 101929700 ENSG00000233128 OTTHUMG00000152401 XR_002959380 HGNC:52584 +HGNC:52585 LINC01795 long intergenic non-protein coding RNA 1795 non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-09 105374744 ENSG00000225226 OTTHUMG00000152120 NR_147010 HGNC:52585 +HGNC:52586 LINC01796 long intergenic non-protein coding RNA 1796 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-09 105373518 ENSG00000277527 OTTHUMG00000153096 NR_135562 HGNC:52586 +HGNC:52587 LINC01797 long intergenic non-protein coding RNA 1797 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-09 101927577 ENSG00000237179 OTTHUMG00000152839 NR_110264 HGNC:52587 +HGNC:52588 LINC01798 long intergenic non-protein coding RNA 1798 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-09 100507073 ENSG00000232046 OTTHUMG00000152838 NR_110156 HGNC:52588 +HGNC:52589 LINC01799 long intergenic non-protein coding RNA 1799 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-09 101060019 ENSG00000230525 OTTHUMG00000152853 NR_110169 HGNC:52589 +HGNC:52590 LINC01800 long intergenic non-protein coding RNA 1800 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-09 101927438 ENSG00000234572 OTTHUMG00000152703 NR_110224 HGNC:52590 +HGNC:52592 LINC01801 long intergenic non-protein coding RNA 1801 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-24 400685 ENSG00000267767 OTTHUMG00000182347 NR_033982 HGNC:52592 +HGNC:52591 LINC01802 long intergenic non-protein coding RNA 1802 non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 Long intergenic non-protein coding RNAs 1986 2016-11-09 2016-11-09 105373852 ENSG00000225064 OTTHUMG00000154784 NR_146973 HGNC:52591 +HGNC:52595 LINC01803 long intergenic non-protein coding RNA 1803 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Long intergenic non-protein coding RNAs 1986 2016-11-10 2016-11-10 105373889 ENSG00000228909 OTTHUMG00000059377 NR_146975 HGNC:52595 +HGNC:52596 LINC01804 long intergenic non-protein coding RNA 1804 non-coding RNA RNA, long non-coding Approved 2p24.3 02p24.3 Long intergenic non-protein coding RNAs 1986 2016-11-10 2016-11-10 101926966 ENSG00000231031 OTTHUMG00000151724 NR_110201 HGNC:52596 +HGNC:52597 LINC01805 long intergenic non-protein coding RNA 1805 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2016-11-10 2016-11-10 105374774 ENSG00000223863 OTTHUMG00000152676 NR_147011 HGNC:52597 +HGNC:52599 LINC01806 long intergenic non-protein coding RNA 1806 non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Long intergenic non-protein coding RNAs 1986 2016-11-10 2016-11-10 100996579 ENSG00000227403 OTTHUMG00000151885 NR_110163 HGNC:52599 +HGNC:52610 LINC01807 long intergenic non-protein coding RNA 1807 non-coding RNA RNA, long non-coding Approved 2q36.3 02q36.3 Long intergenic non-protein coding RNAs 1986 2016-11-11 2016-11-11 101928765 ENSG00000232023 OTTHUMG00000153589 NR_151716 HGNC:52610 +HGNC:52611 LINC01808 long intergenic non-protein coding RNA 1808 non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 Long intergenic non-protein coding RNAs 1986 2016-11-11 2016-11-11 105373460 ENSG00000237992 OTTHUMG00000151774 XR_007086237 HGNC:52611 +HGNC:52612 LINC01809 long intergenic non-protein coding RNA 1809 non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Long intergenic non-protein coding RNAs 1986 2016-11-11 2021-03-04 101928031 ENSG00000232548 OTTHUMG00000152969 NR_146482 33653358 HGNC:52612 +HGNC:52613 LINC01810 long intergenic non-protein coding RNA 1810 non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 Long intergenic non-protein coding RNAs 1986 2016-11-11 2016-11-11 105373400 ENSG00000237266 OTTHUMG00000151421 NR_146954 HGNC:52613 +HGNC:52615 LINC01811 long intergenic non-protein coding RNA 1811 non-coding RNA RNA, long non-coding Approved 3p22.3 03p22.3 Long intergenic non-protein coding RNAs 1986 2016-11-11 2016-11-11 101928114 ENSG00000226320 OTTHUMG00000155767 BU852234 XR_001740635 HGNC:52615 +HGNC:52616 LINC01812 long intergenic non-protein coding RNA 1812 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2016-11-14 2016-11-14 101927701 ENSG00000237013 OTTHUMG00000152485 NR_110271 HGNC:52616 +HGNC:52617 LINC01813 long intergenic non-protein coding RNA 1813 non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 Long intergenic non-protein coding RNAs 1986 2016-11-14 2016-11-14 101927165 ENSG00000229805 OTTHUMG00000152028 NR_135590 HGNC:52617 +HGNC:52618 LINC01814 long intergenic non-protein coding RNA 1814 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 Long intergenic non-protein coding RNAs 1986 2016-11-14 2016-11-14 101929567 ENSG00000236008 OTTHUMG00000151622 NR_110257 HGNC:52618 +HGNC:52619 LINC01815 long intergenic non-protein coding RNA 1815 non-coding RNA RNA, long non-coding Approved 2p12 02p12 Long intergenic non-protein coding RNAs 1986 2016-11-14 2016-11-14 100507201 ENSG00000235519 OTTHUMG00000152947 NR_110161 HGNC:52619 +HGNC:52621 LINC01816 long intergenic non-protein coding RNA 1816 non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 LOC100133985 Long intergenic non-protein coding RNAs 1986 2016-11-15 2017-09-21 100133985 ENSG00000231327 OTTHUMG00000153133 NR_024444 28900495 HGNC:52621 +HGNC:52622 LINC01817 long intergenic non-protein coding RNA 1817 non-coding RNA RNA, long non-coding Approved 2q23.3 02q23.3 Long intergenic non-protein coding RNAs 1986 2016-11-15 2016-11-15 105373683 ENSG00000231420 OTTHUMG00000153759 NR_146972 HGNC:52622 +HGNC:52623 LINC01818 long intergenic non-protein coding RNA 1818 non-coding RNA RNA, long non-coding Approved 2q23.3 02q23.3 Long intergenic non-protein coding RNAs 1986 2016-11-15 2016-11-15 105373684 ENSG00000230645 OTTHUMG00000153755 XR_923469 HGNC:52623 +HGNC:52624 LINC01819 long intergenic non-protein coding RNA 1819 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Long intergenic non-protein coding RNAs 1986 2016-11-16 2022-03-03 102723854 ENSG00000231826 OTTHUMG00000152373 NR_110585 HGNC:52624 +HGNC:52625 LINC01820 long intergenic non-protein coding RNA 1820 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Long intergenic non-protein coding RNAs 1986 2016-11-16 2016-11-16 105374582 ENSG00000228100 OTTHUMG00000153138 NR_146999 HGNC:52625 +HGNC:52626 LINC01821 long intergenic non-protein coding RNA 1821 non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 Long intergenic non-protein coding RNAs 1986 2016-11-16 2016-11-16 101927406 ENSG00000225539 OTTHUMG00000154350 NR_110222 HGNC:52626 +HGNC:52627 LINC01822 long intergenic non-protein coding RNA 1822 non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 Long intergenic non-protein coding RNAs 1986 2016-11-16 2016-11-16 645949 ENSG00000229621 OTTHUMG00000151807 NR_038837 HGNC:52627 +HGNC:52628 LINC01823 long intergenic non-protein coding RNA 1823 non-coding RNA RNA, long non-coding Approved 2q14.3 02q14.3 Long intergenic non-protein coding RNAs 1986 2016-11-16 2016-11-16 101927801 ENSG00000224655 OTTHUMG00000153333 XR_923273 HGNC:52628 +HGNC:52630 LINC01824 long intergenic non-protein coding RNA 1824 non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 Long intergenic non-protein coding RNAs 1986 2016-11-16 2016-11-16 107985844 ENSG00000226488 OTTHUMG00000151461 XR_001739264 HGNC:52630 +HGNC:52631 LINC01825 long intergenic non-protein coding RNA 1825 non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 Long intergenic non-protein coding RNAs 1986 2016-11-17 2016-11-17 107985970 ENSG00000223466 OTTHUMG00000154381 HGNC:52631 +HGNC:52632 LINC01826 long intergenic non-protein coding RNA 1826 non-coding RNA RNA, long non-coding Approved 2q14.3 02q14.3 lnc-MKI67IP-3 Long intergenic non-protein coding RNAs 1986 2016-11-17 2017-02-15 107985818 ENSG00000232740 OTTHUMG00000153424 NR_147208 28195197 HGNC:52632 +HGNC:52633 LINC01827 long intergenic non-protein coding RNA 1827 non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 Long intergenic non-protein coding RNAs 1986 2016-11-17 2016-11-17 105373818 ENSG00000234919 OTTHUMG00000154378 XR_923734 HGNC:52633 +HGNC:52634 LINC01828 long intergenic non-protein coding RNA 1828 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2016-11-17 2016-11-17 102800447 ENSG00000235885 OTTHUMG00000152865 NR_110564 HGNC:52634 +HGNC:52635 LINC01829 long intergenic non-protein coding RNA 1829 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2016-11-17 2016-11-17 644838 ENSG00000236780 OTTHUMG00000152856 NR_038844 HGNC:52635 +HGNC:52636 LINC01830 long intergenic non-protein coding RNA 1830 non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 Long intergenic non-protein coding RNAs 1986 2016-11-18 2020-01-24 105374322 ENSG00000234207 OTTHUMG00000151808 XR_002959374 HGNC:52636 +HGNC:52637 LINC01831 long intergenic non-protein coding RNA 1831 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 Long intergenic non-protein coding RNAs 1986 2016-11-18 2016-11-18 101927331 ENSG00000225765 OTTHUMG00000153049 NR_135589 HGNC:52637 +HGNC:52638 LINC01832 long intergenic non-protein coding RNA 1832 non-coding RNA RNA, long non-coding Approved 2q22.1 02q22.1 Long intergenic non-protein coding RNAs 1986 2016-11-18 2016-11-18 105373635 ENSG00000224231 OTTHUMG00000153616 NR_135526 HGNC:52638 +HGNC:52644 LINC01833 long intergenic non-protein coding RNA 1833 non-coding RNA RNA, long non-coding Approved 2p21 02p21 "RP11-89|K21.1" Long intergenic non-protein coding RNAs 1986 2016-11-18 2016-11-18 107985879 ENSG00000259439 OTTHUMG00000172199 NR_147194 26857641 HGNC:52644 +HGNC:52648 LINC01834 long intergenic non-protein coding RNA 1834 non-coding RNA RNA, long non-coding Approved 19q12 19q12 Long intergenic non-protein coding RNAs 1986 2016-11-21 2016-11-21 107985280 ENSG00000261316 OTTHUMG00000175758 XR_001754033 HGNC:52648 +HGNC:52652 LINC01836 long intergenic non-protein coding RNA 1836 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Long intergenic non-protein coding RNAs 1986 2016-11-24 2016-11-24 107985343 ENSG00000267530 OTTHUMG00000181788 XR_001753829 HGNC:52652 +HGNC:52653 LINC01837 long intergenic non-protein coding RNA 1837 non-coding RNA RNA, long non-coding Approved 19q12-q13.11 19q12-q13.11 Long intergenic non-protein coding RNAs 1986 2016-11-24 2018-02-13 105372363 ENSG00000267489 OTTHUMG00000180233 XR_001753922 HGNC:52653 +HGNC:52654 LINC01838 long intergenic non-protein coding RNA 1838 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Long intergenic non-protein coding RNAs 1986 2016-11-24 2016-11-24 100652911 ENSG00000269037 OTTHUMG00000182959 NR_146451 HGNC:52654 +HGNC:41330 LINC01839 long intergenic non-protein coding RNA 1839 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 EIF2B5-IT1 "EIF2B5 intronic transcript 1 (non-protein coding)|EIF2B5 intronic transcript 1" Long intergenic non-protein coding RNAs 1986 2011-05-24 2016-11-25 2016-11-25 2020-04-20 105374251 ENSG00000227509 OTTHUMG00000156714 uc062qwu.1 XR_007068609 HGNC:41330 +HGNC:40209 LINC01840 long intergenic non-protein coding RNA 1840 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 EIF2B5-AS1 "EIF2B5 antisense RNA 1 (non-protein coding)|EIF2B5 antisense RNA 1" Long intergenic non-protein coding RNAs 1986 2011-07-28 2016-11-25 2016-11-25 2016-11-25 100874079 ENSG00000230215 OTTHUMG00000156713 uc062qwv.1 NR_046593 HGNC:40209 +HGNC:52655 LINC01841 long intergenic non-protein coding RNA 1841 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 Long intergenic non-protein coding RNAs 1986 2016-11-25 2016-11-25 105372288 ENSG00000266913 OTTHUMG00000182164 NR_134908 HGNC:52655 +HGNC:52656 LINC01842 long intergenic non-protein coding RNA 1842 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 Long intergenic non-protein coding RNAs 1986 2016-11-25 2016-11-25 101928845 ENSG00000267147 OTTHUMG00000182165 NR_134916 HGNC:52656 +HGNC:52659 LINC01843 long intergenic non-protein coding RNA 1843 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 Long intergenic non-protein coding RNAs 1986 2016-11-30 2016-11-30 101927934 ENSG00000251169 OTTHUMG00000163059 NR_105045 HGNC:52659 +HGNC:52660 LINC01844 long intergenic non-protein coding RNA 1844 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 LOC101926975 Long intergenic non-protein coding RNAs 1986 2016-11-30 2017-06-15 101926975 ENSG00000236714 OTTHUMG00000059704 NR_110558 27076786 HGNC:52660 +HGNC:27747 LINC01845 long intergenic non-protein coding RNA 1845 non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 Long intergenic non-protein coding RNAs 1986 2016-11-30 2016-11-30 285627 ENSG00000253298 OTTHUMG00000163542 NR_027110 HGNC:27747 +HGNC:52661 LINC01846 long intergenic non-protein coding RNA 1846 non-coding RNA RNA, long non-coding Approved 5q15 05q15 Long intergenic non-protein coding RNAs 1986 2016-11-30 2016-11-30 105379098 ENSG00000248901 OTTHUMG00000162711 NR_146477 HGNC:52661 +HGNC:52662 LINC01847 long intergenic non-protein coding RNA 1847 non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 Long intergenic non-protein coding RNAs 1986 2016-11-30 2016-11-30 101927766 ENSG00000253311 OTTHUMG00000163544 NR_109891 HGNC:52662 +HGNC:52663 LINC01848 long intergenic non-protein coding RNA 1848 non-coding RNA RNA, long non-coding Approved 5q21.3 05q21.3 Long intergenic non-protein coding RNAs 1986 2016-11-30 2016-11-30 100289673 ENSG00000254106 OTTHUMG00000163576 NR_033175 HGNC:52663 +HGNC:52665 LINC01849 long intergenic non-protein coding RNA 1849 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 105373507 ENSG00000234988 OTTHUMG00000153149 NR_146956 HGNC:52665 +HGNC:52666 LINC01850 long intergenic non-protein coding RNA 1850 non-coding RNA RNA, long non-coding Approved 2q23.3 02q23.3 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 107985951 ENSG00000227708 OTTHUMG00000153820 XR_001739740 HGNC:52666 +HGNC:52667 LINC01851 long intergenic non-protein coding RNA 1851 non-coding RNA RNA, long non-coding Approved 2p12 02p12 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 101927926 ENSG00000233605 OTTHUMG00000152845 NR_110286 HGNC:52667 +HGNC:52668 LINC01852 long intergenic non-protein coding RNA 1852 non-coding RNA RNA, long non-coding Approved 15q14 15q14 ENST00000434223 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 107984773 ENSG00000236914 OTTHUMG00000172374 NR_147199 26883250 HGNC:52668 +HGNC:52669 LINC01853 long intergenic non-protein coding RNA 1853 non-coding RNA RNA, long non-coding Approved 2q22.1 02q22.1 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 105373647 ENSG00000224028 OTTHUMG00000153651 XR_923380 HGNC:52669 +HGNC:52670 LINC01854 long intergenic non-protein coding RNA 1854 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 151121 ENSG00000204460 OTTHUMG00000153413 NR_122040 HGNC:52670 +HGNC:52675 LINC01855 long intergenic non-protein coding RNA 1855 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 105372292 ENSG00000267517 OTTHUMG00000182228 XR_936356 HGNC:52675 +HGNC:52672 LINC01856 long intergenic non-protein coding RNA 1856 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 101927924 ENSG00000237574 OTTHUMG00000153485 NR_110285 HGNC:52672 +HGNC:52673 LINC01857 long intergenic non-protein coding RNA 1857 non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 AC079767.4 Long intergenic non-protein coding RNAs 1986 2016-12-01 2019-08-14 102724714 ENSG00000224137 OTTHUMG00000154786 NR_135567 "28424495|31405785" HGNC:52673 +HGNC:52676 LINC01858 long intergenic non-protein coding RNA 1858 non-coding RNA RNA, long non-coding Approved 19p12 19p12 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 101929144 ENSG00000261615 OTTHUMG00000175741 NR_110745 HGNC:52676 +HGNC:52677 LINC01859 long intergenic non-protein coding RNA 1859 non-coding RNA RNA, long non-coding Approved 19p12 19p12 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 101929164 ENSG00000261558 OTTHUMG00000175742 NR_110746 HGNC:52677 +HGNC:52680 LINC01861 long intergenic non-protein coding RNA 1861 non-coding RNA RNA, long non-coding Approved 5q33.2 05q33.2 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 105378238 ENSG00000251183 OTTHUMG00000163488 NR_146729 HGNC:52680 +HGNC:52682 LINC01863 long intergenic non-protein coding RNA 1863 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 107986480 ENSG00000253959 OTTHUMG00000163339 XR_001743002 HGNC:52682 +HGNC:52683 LINC01864 long intergenic non-protein coding RNA 1864 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 101928886 ENSG00000267522 OTTHUMG00000181876 NR_110741 HGNC:52683 +HGNC:52684 LINC01865 long intergenic non-protein coding RNA 1865 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 105373350 ENSG00000233684 OTTHUMG00000151365 NR_146953 HGNC:52684 +HGNC:52685 LINC01866 long intergenic non-protein coding RNA 1866 non-coding RNA RNA, long non-coding Approved 2p24.2 02p24.2 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 107985806 ENSG00000237670 OTTHUMG00000151745 XR_001739184 HGNC:52685 +HGNC:52687 LINC01867 long intergenic non-protein coding RNA 1867 non-coding RNA RNA, long non-coding Approved 2p16.3 02p16.3 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 105374596 ENSG00000225444 OTTHUMG00000151845 NR_135239 HGNC:52687 +HGNC:52688 LINC01868 long intergenic non-protein coding RNA 1868 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-01 2016-12-01 107985924 ENSG00000234169 OTTHUMG00000153160 XR_001739610 HGNC:52688 +HGNC:25050 LINC01869 long intergenic non-protein coding RNA 1869 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 MGC45922 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 284365 ENSG00000180279 OTTHUMG00000182877 NR_038359 12477932 HGNC:25050 +HGNC:52689 LINC01870 long intergenic non-protein coding RNA 1870 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 107985925 ENSG00000223826 OTTHUMG00000155390 XR_001739614 HGNC:52689 +HGNC:52690 LINC01871 long intergenic non-protein coding RNA 1871 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 101929531 ENSG00000235576 OTTHUMG00000151591 XR_241262 HGNC:52690 +HGNC:52691 LINC01872 long intergenic non-protein coding RNA 1872 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 105372444 ENSG00000268318 OTTHUMG00000183133 NR_136526 HGNC:52691 +HGNC:52692 LINC01873 long intergenic non-protein coding RNA 1873 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 729348 ENSG00000232164 OTTHUMG00000152809 NR_130931 HGNC:52692 +HGNC:52693 LINC01874 long intergenic non-protein coding RNA 1874 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 727944 ENSG00000223985 OTTHUMG00000151362 NR_146436 HGNC:52693 +HGNC:52694 LINC01875 long intergenic non-protein coding RNA 1875 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 101927362 ENSG00000225942 OTTHUMG00000151361 XR_245051 HGNC:52694 +HGNC:52695 LINC01876 long intergenic non-protein coding RNA 1876 non-coding RNA RNA, long non-coding Approved 2q24.1 02q24.1 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 101929378 ENSG00000226383 OTTHUMG00000153834 NR_110249 HGNC:52695 +HGNC:52696 LINC01877 long intergenic non-protein coding RNA 1877 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 101927641 ENSG00000238217 OTTHUMG00000154493 NR_110270 HGNC:52696 +HGNC:52697 LINC01878 long intergenic non-protein coding RNA 1878 non-coding RNA RNA, long non-coding Approved 2q34 02q34 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 102725079 ENSG00000234308 OTTHUMG00000154769 NR_131941 HGNC:52697 +HGNC:52698 LINC01879 long intergenic non-protein coding RNA 1879 non-coding RNA RNA, long non-coding Approved 18q23 18q23 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 400661 ENSG00000276397 OTTHUMG00000132860 NR_122073 HGNC:52698 +HGNC:52699 LINC01880 long intergenic non-protein coding RNA 1880 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 105373979 ENSG00000232002 OTTHUMG00000151385 XR_924080 HGNC:52699 +HGNC:52700 LINC01881 long intergenic non-protein coding RNA 1881 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 728323 ENSG00000220804 OTTHUMG00000151386 NR_130699 HGNC:52700 +HGNC:52701 LINC01882 long intergenic non-protein coding RNA 1882 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 Long intergenic non-protein coding RNAs 1986 2016-12-02 2020-01-24 100996324 ENSG00000260302 OTTHUMG00000180894 NR_110763 HGNC:52701 +HGNC:52702 LINC01883 long intergenic non-protein coding RNA 1883 non-coding RNA RNA, long non-coding Approved 2p22.1 02p22.1 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 100996902 ENSG00000235009 OTTHUMG00000153433 NR_146454 HGNC:52702 +HGNC:52703 LINC01884 long intergenic non-protein coding RNA 1884 non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 102723362 ENSG00000233587 OTTHUMG00000151816 NR_110577 HGNC:52703 +HGNC:52704 LINC01885 long intergenic non-protein coding RNA 1885 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 105373538 ENSG00000237880 OTTHUMG00000153200 XR_001739632 HGNC:52704 +HGNC:52705 LINC01886 long intergenic non-protein coding RNA 1886 non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 Long intergenic non-protein coding RNAs 1986 2016-12-02 2016-12-02 105373537 ENSG00000224568 OTTHUMG00000153209 NR_146968 HGNC:52705 +HGNC:52706 LINC01887 long intergenic non-protein coding RNA 1887 non-coding RNA RNA, long non-coding Approved 18p11.22 18p11.22 Long intergenic non-protein coding RNAs 1986 2016-12-05 2016-12-05 102724470 ENSG00000266604 OTTHUMG00000178562 NR_146509 HGNC:52706 +HGNC:52707 LINC01888 long intergenic non-protein coding RNA 1888 non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 Long intergenic non-protein coding RNAs 1986 2016-12-05 2016-12-05 107985893 ENSG00000237576 OTTHUMG00000152623 XR_001739530 HGNC:52707 +HGNC:52708 LINC01889 long intergenic non-protein coding RNA 1889 non-coding RNA RNA, long non-coding Approved 2q14.3 02q14.3 Long intergenic non-protein coding RNAs 1986 2016-12-05 2016-12-05 105373597 ENSG00000235491 OTTHUMG00000153369 XR_923294 HGNC:52708 +HGNC:52709 LINC01890 long intergenic non-protein coding RNA 1890 non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 Long intergenic non-protein coding RNAs 1986 2016-12-05 2016-12-05 105374791 ENSG00000228329 OTTHUMG00000152624 XR_001739529 HGNC:52709 +HGNC:52710 LINC01891 long intergenic non-protein coding RNA 1891 non-coding RNA RNA, long non-coding Approved 2q37.1 02q37.1 Long intergenic non-protein coding RNAs 1986 2016-12-05 2016-12-05 105373934 ENSG00000231682 OTTHUMG00000153157 NR_146988 HGNC:52710 +HGNC:52711 LINC01892 long intergenic non-protein coding RNA 1892 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Long intergenic non-protein coding RNAs 1986 2016-12-05 2016-12-05 105371969 ENSG00000265514 OTTHUMG00000178432 NR_146900 HGNC:52711 +HGNC:52712 LINC01893 long intergenic non-protein coding RNA 1893 non-coding RNA RNA, long non-coding Approved 18q23 18q23 Long intergenic non-protein coding RNAs 1986 2016-12-05 2016-12-05 105372207 ENSG00000264260 OTTHUMG00000179132 NR_146507 HGNC:52712 +HGNC:52713 LINC01894 long intergenic non-protein coding RNA 1894 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-05 2016-12-05 105372030 ENSG00000264345 OTTHUMG00000179507 NR_146903 HGNC:52713 +HGNC:52714 LINC01895 long intergenic non-protein coding RNA 1895 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Long intergenic non-protein coding RNAs 1986 2016-12-05 2016-12-05 105371964 ENSG00000259256 OTTHUMG00000172322 NR_146506 HGNC:52714 +HGNC:52715 LINC01896 long intergenic non-protein coding RNA 1896 non-coding RNA RNA, long non-coding Approved 18q23 18q23 Long intergenic non-protein coding RNAs 1986 2016-12-05 2016-12-05 645321 ENSG00000263146 OTTHUMG00000178053 XR_935681 HGNC:52715 +HGNC:52716 LINC01897 long intergenic non-protein coding RNA 1897 non-coding RNA RNA, long non-coding Approved 18q21.31 18q21.31 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 107985146 ENSG00000267209 OTTHUMG00000179890 HGNC:52716 +HGNC:52717 LINC01898 long intergenic non-protein coding RNA 1898 non-coding RNA RNA, long non-coding Approved 18q23 18q23 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 100505853 ENSG00000261194 OTTHUMG00000176210 NR_134646 HGNC:52717 +HGNC:52718 LINC01899 long intergenic non-protein coding RNA 1899 non-coding RNA RNA, long non-coding Approved 18q22.3 18q22.3 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 102724913 ENSG00000265352 OTTHUMG00000178794 NR_126324 HGNC:52718 +HGNC:52719 LINC01900 long intergenic non-protein coding RNA 1900 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 102724208 ENSG00000265758 OTTHUMG00000179438 XR_001753529 HGNC:52719 +HGNC:52720 LINC01901 long intergenic non-protein coding RNA 1901 non-coding RNA RNA, long non-coding Approved 18q12.3 18q12.3 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 105372080 ENSG00000267413 OTTHUMG00000178309 HGNC:52720 +HGNC:52721 LINC01902 long intergenic non-protein coding RNA 1902 non-coding RNA RNA, long non-coding Approved 18q12.3 18q12.3 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 105372079 ENSG00000283503 OTTHUMG00000191634 NR_151703 HGNC:52721 +HGNC:52722 LINC01903 long intergenic non-protein coding RNA 1903 non-coding RNA RNA, long non-coding Approved 18q22.1 18q22.1 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 101927430 ENSG00000265555 OTTHUMG00000178543 NR_146471 HGNC:52722 +HGNC:52723 LINC01904 long intergenic non-protein coding RNA 1904 non-coding RNA RNA, long non-coding Approved 18p11.32 18p11.32 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 388456 ENSG00000259837 OTTHUMG00000176096 NR_146724 HGNC:52723 +HGNC:52724 LINC01905 long intergenic non-protein coding RNA 1905 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 102724698 ENSG00000267057 OTTHUMG00000180036 NR_146510 HGNC:52724 +HGNC:52725 LINC01906 long intergenic non-protein coding RNA 1906 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 Long intergenic non-protein coding RNAs 1986 2016-12-06 2020-09-07 105372009 ENSG00000265786 OTTHUMG00000178808 NR_170236 HGNC:52725 +HGNC:52726 LINC01907 long intergenic non-protein coding RNA 1907 non-coding RNA RNA, long non-coding Approved 2q37.1 02q37.1 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 151475 ENSG00000226125 OTTHUMG00000153829 NR_040038 HGNC:52726 +HGNC:52727 LINC01908 long intergenic non-protein coding RNA 1908 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 105372037 ENSG00000265374 OTTHUMG00000179451 XR_002958212 HGNC:52727 +HGNC:52728 LINC01909 long intergenic non-protein coding RNA 1909 non-coding RNA RNA, long non-coding Approved 18q22.2 18q22.2 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 101927481 ENSG00000266258 OTTHUMG00000178695 NR_126336 HGNC:52728 +HGNC:52729 LINC01910 long intergenic non-protein coding RNA 1910 non-coding RNA RNA, long non-coding Approved 18q22.2 18q22.2 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 101060542 ENSG00000266278 OTTHUMG00000178696 NR_110764 HGNC:52729 +HGNC:52730 LINC01911 long intergenic non-protein coding RNA 1911 non-coding RNA RNA, long non-coding Approved 2q22.3 02q22.3 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 105373669 ENSG00000231040 OTTHUMG00000153708 XR_001739728 HGNC:52730 +HGNC:52731 LINC01912 long intergenic non-protein coding RNA 1912 non-coding RNA RNA, long non-coding Approved 18q22.1 18q22.1 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 105372175 ENSG00000264699 OTTHUMG00000178547 XR_935591 HGNC:52731 +HGNC:52732 LINC01913 long intergenic non-protein coding RNA 1913 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 388942 ENSG00000214691 OTTHUMG00000152301 NR_033996 HGNC:52732 +HGNC:52733 LINC01914 long intergenic non-protein coding RNA 1914 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 101929723 ENSG00000234362 OTTHUMG00000152505 NR_110262 HGNC:52733 +HGNC:52734 LINC01915 long intergenic non-protein coding RNA 1915 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 729950 ENSG00000265485 OTTHUMG00000179501 NR_040033 HGNC:52734 +HGNC:52735 LINC01916 long intergenic non-protein coding RNA 1916 non-coding RNA RNA, long non-coding Approved 18q22.1 18q22.1 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 107985128 ENSG00000264232 OTTHUMG00000178488 XR_001753544 HGNC:52735 +HGNC:52736 LINC01917 long intergenic non-protein coding RNA 1917 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 101928167 ENSG00000260433 OTTHUMG00000176187 NR_110800 HGNC:52736 +HGNC:52737 LINC01918 long intergenic non-protein coding RNA 1918 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 105373984 ENSG00000226508 OTTHUMG00000153079 NR_136172 HGNC:52737 +HGNC:52739 LINC01919 long intergenic non-protein coding RNA 1919 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 102724651 ENSG00000263438 OTTHUMG00000179714 NR_110798 HGNC:52739 +HGNC:52738 LINC01920 long intergenic non-protein coding RNA 1920 non-coding RNA RNA, long non-coding Approved 2q23.3 02q23.3 Long intergenic non-protein coding RNAs 1986 2016-12-06 2016-12-06 101929260 ENSG00000236049 OTTHUMG00000153754 NR_110241 HGNC:52738 +HGNC:52740 LINC01921 long intergenic non-protein coding RNA 1921 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Long intergenic non-protein coding RNAs 1986 2016-12-07 2018-03-15 101928327 ENSG00000223874 OTTHUMG00000155310 NR_130782 HGNC:52740 +HGNC:52741 LINC01922 long intergenic non-protein coding RNA 1922 non-coding RNA RNA, long non-coding Approved 18q22.3 18q22.3 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 101927606 ENSG00000259779 OTTHUMG00000176209 NR_131977 HGNC:52741 +HGNC:52742 LINC01923 long intergenic non-protein coding RNA 1923 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 101927619 ENSG00000236653 OTTHUMG00000154465 NR_110267 HGNC:52742 +HGNC:27600 LINC01924 long intergenic non-protein coding RNA 1924 non-coding RNA RNA, long non-coding Approved 18q22.1 18q22.1 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 284294 ENSG00000267134 OTTHUMG00000180126 NR_033881 HGNC:27600 +HGNC:52745 LINC01925 long intergenic non-protein coding RNA 1925 non-coding RNA RNA, long non-coding Approved 18p11.32 18p11.32 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 105376854 ENSG00000264265 OTTHUMG00000178219 NR_136505 HGNC:52745 +HGNC:52748 LINC01926 long intergenic non-protein coding RNA 1926 non-coding RNA RNA, long non-coding Approved 18q21.32 18q21.32 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 105372147 ENSG00000267593 OTTHUMG00000180012 NR_146904 HGNC:52748 +HGNC:52749 LINC01927 long intergenic non-protein coding RNA 1927 non-coding RNA RNA, long non-coding Approved 18q23 18q23 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 101927651 ENSG00000266312 OTTHUMG00000179326 NR_110784 HGNC:52749 +HGNC:52750 LINC01928 long intergenic non-protein coding RNA 1928 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 105371994 ENSG00000267425 OTTHUMG00000178503 NR_146901 HGNC:52750 +HGNC:52751 LINC01929 long intergenic non-protein coding RNA 1929 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 CTD-2171N6.1 Long intergenic non-protein coding RNAs 1986 2016-12-07 2017-06-23 101927229 ENSG00000267013 OTTHUMG00000176191 NR_110743 28618399 HGNC:52751 +HGNC:52744 LINC01930 long intergenic non-protein coding RNA 1930 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 EU358092 Long intergenic non-protein coding RNAs 1986 2016-12-07 2020-01-24 109729128 OTTHUMG00000183916 NR_146275 27913161 HGNC:52744 +HGNC:52743 LINC01931 long intergenic non-protein coding RNA 1931 non-coding RNA RNA, long non-coding Approved 2q23.3 02q23.3 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 150596 ENSG00000162947 OTTHUMG00000153746 NR_145421 HGNC:52743 +HGNC:52755 LINC01932 long intergenic non-protein coding RNA 1932 non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 105377682 ENSG00000253315 OTTHUMG00000163520 NR_134261 HGNC:52755 +HGNC:52756 LINC01933 long intergenic non-protein coding RNA 1933 non-coding RNA RNA, long non-coding Approved 5q33.1 05q33.1 Long intergenic non-protein coding RNAs 1986 2016-12-07 2016-12-07 101927115 ENSG00000254226 OTTHUMG00000163523 NR_109876 HGNC:52756 +HGNC:52757 LINC01934 long intergenic non-protein coding RNA 1934 non-coding RNA RNA, long non-coding Approved 2q31.3 02q31.3 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 101927156 ENSG00000234663 OTTHUMG00000154205 NR_130784 HGNC:52757 +HGNC:52758 LINC01935 long intergenic non-protein coding RNA 1935 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 105373519 ENSG00000224095 OTTHUMG00000153097 NR_135530 HGNC:52758 +HGNC:52759 LINC01936 long intergenic non-protein coding RNA 1936 non-coding RNA RNA, long non-coding Approved 2p23.1 02p23.1 Long intergenic non-protein coding RNAs 1986 2016-12-08 2018-04-09 285043 ENSG00000235997 OTTHUMG00000152052 NR_122048 HGNC:52759 +HGNC:52760 LINC01937 long intergenic non-protein coding RNA 1937 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 105373962 ENSG00000234279 OTTHUMG00000152851 XR_007088244 HGNC:52760 +HGNC:52761 LINC01938 long intergenic non-protein coding RNA 1938 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 105377701 ENSG00000254066 OTTHUMG00000163861 XR_007059029 HGNC:52761 +HGNC:52762 LINC01939 long intergenic non-protein coding RNA 1939 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 101060385 ENSG00000228799 OTTHUMG00000151369 NR_110179 HGNC:52762 +HGNC:52763 LINC01940 long intergenic non-protein coding RNA 1940 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 401039 ENSG00000227744 OTTHUMG00000152837 NR_034162 HGNC:52763 +HGNC:52764 LINC01941 long intergenic non-protein coding RNA 1941 non-coding RNA RNA, long non-coding Approved 2q14.3 02q14.3 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 105373600 ENSG00000226813 OTTHUMG00000153386 NR_146970 HGNC:52764 +HGNC:52766 LINC01942 long intergenic non-protein coding RNA 1942 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 105377736 ENSG00000253428 OTTHUMG00000163336 NR_146727 HGNC:52766 +HGNC:52767 LINC01943 long intergenic non-protein coding RNA 1943 non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 101928173 ENSG00000280721 OTTHUMG00000153255 XR_001739578 HGNC:52767 +HGNC:52768 LINC01944 long intergenic non-protein coding RNA 1944 non-coding RNA RNA, long non-coding Approved 5q35.1 05q35.1 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 105377728 ENSG00000254299 OTTHUMG00000163279 NR_146726 HGNC:52768 +HGNC:52769 LINC01945 long intergenic non-protein coding RNA 1945 non-coding RNA RNA, long non-coding Approved 2q21.2 02q21.2 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 101928067 ENSG00000236485 OTTHUMG00000156217 NR_146484 HGNC:52769 +HGNC:52770 LINC01946 long intergenic non-protein coding RNA 1946 non-coding RNA RNA, long non-coding Approved 2p23.1-p22.3 02p23.1-p22.3 Long intergenic non-protein coding RNAs 1986 2016-12-08 2018-02-13 105374449 ENSG00000223647 OTTHUMG00000152056 NR_146994 HGNC:52770 +HGNC:52771 LINC01947 long intergenic non-protein coding RNA 1947 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 102557615 ENSG00000254130 OTTHUMG00000162904 NR_108020 HGNC:52771 +HGNC:52772 LINC01948 long intergenic non-protein coding RNA 1948 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 102467147 ENSG00000248727 OTTHUMG00000162309 NR_104664 HGNC:52772 +HGNC:25650 LINC01949 long intergenic non-protein coding RNA 1949 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Long intergenic non-protein coding RNAs 1986 2016-12-08 2020-05-13 55338 ENSG00000288569 OTTHUMG00000187233 NR_130914 HGNC:25650 +HGNC:52773 LINC01950 long intergenic non-protein coding RNA 1950 non-coding RNA RNA, long non-coding Approved 5q21.3 05q21.3 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 102467213 ENSG00000251027 OTTHUMG00000162799 NR_104671 HGNC:52773 +HGNC:52774 LINC01951 long intergenic non-protein coding RNA 1951 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 Long intergenic non-protein coding RNAs 1986 2016-12-08 2016-12-08 441116 ENSG00000204754 OTTHUMG00000163125 NR_046113 HGNC:52774 +HGNC:52776 LINC01953 long intergenic non-protein coding RNA 1953 non-coding RNA RNA, long non-coding Approved 2q34 02q34 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 105373863 ENSG00000236193 OTTHUMG00000186255 XR_923850 HGNC:52776 +HGNC:52779 LINC01954 long intergenic non-protein coding RNA 1954 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 101929733 ENSG00000271952 OTTHUMG00000185559 NR_110575 HGNC:52779 +HGNC:52780 LINC01955 long intergenic non-protein coding RNA 1955 non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 105374847 ENSG00000281477 OTTHUMG00000189701 XR_940323 HGNC:52780 +HGNC:52777 LINC01956 long intergenic non-protein coding RNA 1956 non-coding RNA RNA, long non-coding Approved 2q14.2 02q14.2 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 107985816 ENSG00000258910 OTTHUMG00000170896 XR_001739202 HGNC:52777 +HGNC:52783 LINC01957 long intergenic non-protein coding RNA 1957 non-coding RNA RNA, long non-coding Approved 5q22.3 05q22.3 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 101927059 ENSG00000251542 OTTHUMG00000162872 NR_134282 HGNC:52783 +HGNC:52784 LINC01958 long intergenic non-protein coding RNA 1958 non-coding RNA RNA, long non-coding Approved 2q24.1 02q24.1 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 105373708 ENSG00000283436 OTTHUMG00000191869 XR_923506 HGNC:52784 +HGNC:52785 LINC01960 long intergenic non-protein coding RNA 1960 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 100128905 ENSG00000260868 OTTHUMG00000176260 NR_136175 HGNC:52785 +HGNC:52786 LINC01961 long intergenic non-protein coding RNA 1961 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 101927424 ENSG00000234148 OTTHUMG00000184091 XR_007087198 HGNC:52786 +HGNC:52787 LINC01962 long intergenic non-protein coding RNA 1962 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 102577426 ENSG00000248473 OTTHUMG00000162379 NR_108031 HGNC:52787 +HGNC:25283 LINC01963 long intergenic non-protein coding RNA 1963 non-coding RNA RNA, long non-coding Approved 2q35 02q35 DKFZp434H1419 Long intergenic non-protein coding RNAs 1986 2016-12-09 2017-01-19 150967 ENSG00000260804 OTTHUMG00000176293 NR_037701 HGNC:25283 +HGNC:52789 LINC01964 long intergenic non-protein coding RNA 1964 non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 100996478 ENSG00000260840 OTTHUMG00000175958 XR_940312 HGNC:52789 +HGNC:52790 LINC01965 long intergenic non-protein coding RNA 1965 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 107985928 ENSG00000256637 OTTHUMG00000167762 XR_001739621 HGNC:52790 +HGNC:52792 LINC01966 long intergenic non-protein coding RNA 1966 non-coding RNA RNA, long non-coding Approved 2q22.3 02q22.3 Long intergenic non-protein coding RNAs 1986 2016-12-09 2016-12-09 105373662 ENSG00000268580 OTTHUMG00000182522 XR_923412 HGNC:52792 +HGNC:52793 LINC01967 long intergenic non-protein coding RNA 1967 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 107986041 ENSG00000235493 OTTHUMG00000155651 XR_001740553 HGNC:52793 +HGNC:52794 LINC01968 long intergenic non-protein coding RNA 1968 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 100507391 ENSG00000237222 OTTHUMG00000156020 NR_037891 HGNC:52794 +HGNC:52795 LINC01969 long intergenic non-protein coding RNA 1969 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 Long intergenic non-protein coding RNAs 1986 2016-12-12 2020-01-24 101927230 OTTHUMG00000162061 NR_110806 HGNC:52795 +HGNC:52796 LINC01970 long intergenic non-protein coding RNA 1970 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 101929511 ENSG00000265692 OTTHUMG00000178661 NR_135639 HGNC:52796 +HGNC:52797 LINC01971 long intergenic non-protein coding RNA 1971 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105371927 ENSG00000278200 OTTHUMG00000186760 XR_007065946 HGNC:52797 +HGNC:52798 LINC01972 long intergenic non-protein coding RNA 1972 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105374293 ENSG00000230401 OTTHUMG00000156022 XR_924871 HGNC:52798 +HGNC:52800 LINC01973 long intergenic non-protein coding RNA 1973 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 400624 ENSG00000204283 OTTHUMG00000177433 NR_028337 HGNC:52800 +HGNC:52801 LINC01974 long intergenic non-protein coding RNA 1974 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105371798 ENSG00000262031 OTTHUMG00000178078 XR_001753126 HGNC:52801 +HGNC:52802 LINC01975 long intergenic non-protein coding RNA 1975 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105371496 ENSG00000263312 OTTHUMG00000177725 NR_146884 HGNC:52802 +HGNC:52803 LINC01976 long intergenic non-protein coding RNA 1976 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 107546764 ENSG00000261514 OTTHUMG00000176999 NR_136406 HGNC:52803 +HGNC:52804 LINC01977 long intergenic non-protein coding RNA 1977 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2018-05-24 105371919 ENSG00000262772 OTTHUMG00000177465 NR_146504 HGNC:52804 +HGNC:52806 LINC01978 long intergenic non-protein coding RNA 1978 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 101928738 ENSG00000262188 OTTHUMG00000177488 NR_110851 HGNC:52806 +HGNC:52807 LINC01979 long intergenic non-protein coding RNA 1979 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 101928766 ENSG00000262585 OTTHUMG00000177487 NR_110850 HGNC:52807 +HGNC:52808 LINC01980 long intergenic non-protein coding RNA 1980 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 Long intergenic non-protein coding RNAs 1986 2016-12-12 2018-08-16 105377007 ENSG00000225548 OTTHUMG00000155653 NR_146630 HGNC:52808 +HGNC:52809 LINC01981 long intergenic non-protein coding RNA 1981 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 100996624 ENSG00000229243 OTTHUMG00000155652 NR_132438 HGNC:52809 +HGNC:52812 LINC01982 long intergenic non-protein coding RNA 1982 non-coding RNA RNA, long non-coding Approved 17q22 17q22 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105371830 ENSG00000263317 OTTHUMG00000177546 NR_146898 HGNC:52812 +HGNC:52813 LINC01983 long intergenic non-protein coding RNA 1983 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 101929697 ENSG00000223783 OTTHUMG00000155824 NR_134939 HGNC:52813 +HGNC:52816 LINC01985 long intergenic non-protein coding RNA 1985 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 101928015 ENSG00000227260 OTTHUMG00000155731 XR_245198 HGNC:52816 +HGNC:52817 LINC01986 long intergenic non-protein coding RNA 1986 non-coding RNA RNA, long non-coding Approved 3p26.3 03p26.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 102723448 ENSG00000223587 OTTHUMG00000154851 NR_110824 HGNC:52817 +HGNC:52819 LINC01987 long intergenic non-protein coding RNA 1987 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 100132174 ENSG00000267790 OTTHUMG00000177432 NR_104134 HGNC:52819 +HGNC:52820 LINC01988 long intergenic non-protein coding RNA 1988 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 100506319 ENSG00000283036 OTTHUMG00000191479 NR_144436 HGNC:52820 +HGNC:52821 LINC01989 long intergenic non-protein coding RNA 1989 non-coding RNA RNA, long non-coding Approved 17q12 17q12 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 101927239 ENSG00000261156 OTTHUMG00000176032 NR_110748 HGNC:52821 +HGNC:52822 LINC01990 long intergenic non-protein coding RNA 1990 non-coding RNA RNA, long non-coding Approved 3q13.12 03q13.12 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 101929607 ENSG00000273125 OTTHUMG00000185878 NR_110039 HGNC:52822 +HGNC:52823 LINC01991 long intergenic non-protein coding RNA 1991 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105374266 ENSG00000224187 OTTHUMG00000156391 NR_135538 HGNC:52823 +HGNC:52824 LINC01992 long intergenic non-protein coding RNA 1992 non-coding RNA RNA, long non-coding Approved 17q11.2 17q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105371708 ENSG00000260019 OTTHUMG00000175990 NR_146896 HGNC:52824 +HGNC:52826 LINC01993 long intergenic non-protein coding RNA 1993 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 100996291 ENSG00000204277 OTTHUMG00000177511 NR_073178 HGNC:52826 +HGNC:52827 LINC01994 long intergenic non-protein coding RNA 1994 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 401103 ENSG00000241098 OTTHUMG00000158294 NR_040105 HGNC:52827 +HGNC:52828 LINC01995 long intergenic non-protein coding RNA 1995 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105374244 ENSG00000244247 OTTHUMG00000158301 NR_134941 HGNC:52828 +HGNC:52830 LINC01996 long intergenic non-protein coding RNA 1996 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 400568 ENSG00000261863 OTTHUMG00000177830 NR_145431 HGNC:52830 +HGNC:52831 LINC01997 long intergenic non-protein coding RNA 1997 non-coding RNA RNA, long non-coding Approved 3q26.2 03q26.2 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105374201 ENSG00000241383 OTTHUMG00000158576 XR_924689 HGNC:52831 +HGNC:52832 LINC01998 long intergenic non-protein coding RNA 1998 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 107986046 ENSG00000243321 OTTHUMG00000159740 XR_001740566 HGNC:52832 +HGNC:52834 LINC01999 long intergenic non-protein coding RNA 1999 non-coding RNA RNA, long non-coding Approved 17q23.2 17q23.2 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 388406 ENSG00000267772 OTTHUMG00000180050 NR_126009 HGNC:52834 +HGNC:52835 LINC02000 long intergenic non-protein coding RNA 2000 non-coding RNA RNA, long non-coding Approved 3q22.2 03q22.2 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 100507210 ENSG00000243832 OTTHUMG00000159748 NR_135574 HGNC:52835 +HGNC:52837 LINC02002 long intergenic non-protein coding RNA 2002 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105371595 ENSG00000263609 OTTHUMG00000179080 XR_942175 HGNC:52837 +HGNC:27099 LINC02003 long intergenic non-protein coding RNA 2003 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 146795 ENSG00000264026 OTTHUMG00000178301 NR_135222 HGNC:27099 +HGNC:52838 LINC02004 long intergenic non-protein coding RNA 2004 non-coding RNA RNA, long non-coding Approved 3q22.2 03q22.2 Long intergenic non-protein coding RNAs 1986 2016-12-12 2019-04-24 105374119 ENSG00000240006 OTTHUMG00000159760 XR_924520 HGNC:52838 +HGNC:52839 LINC02005 long intergenic non-protein coding RNA 2005 non-coding RNA RNA, long non-coding Approved 3p13 03p13 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105377165 ENSG00000242741 OTTHUMG00000158832 NR_146637 HGNC:52839 +HGNC:52842 LINC02006 long intergenic non-protein coding RNA 2006 non-coding RNA RNA, long non-coding Approved 3q25.2 03q25.2 Long intergenic non-protein coding RNAs 1986 2016-12-12 2016-12-12 105374165 ENSG00000238755 OTTHUMG00000159707 NR_146713 HGNC:52842 +HGNC:52844 LINC02008 long intergenic non-protein coding RNA 2008 non-coding RNA RNA, long non-coding Approved 3p12.2 03p12.2 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105377180 ENSG00000239440 OTTHUMG00000158946 NR_147146 HGNC:52844 +HGNC:52845 LINC02009 long intergenic non-protein coding RNA 2009 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105377068 ENSG00000283646 OTTHUMG00000191680 NR_151704 HGNC:52845 +HGNC:52846 LINC02010 long intergenic non-protein coding RNA 2010 non-coding RNA RNA, long non-coding Approved 3q24 03q24 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 101927866 ENSG00000242671 OTTHUMG00000159455 NR_135560 HGNC:52846 +HGNC:27191 LINC02011 long intergenic non-protein coding RNA 2011 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 FLJ31836 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 152274 ENSG00000260902 OTTHUMG00000175698 AK056398 NR_135245 HGNC:27191 +HGNC:52847 LINC02012 long intergenic non-protein coding RNA 2012 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 100129516 ENSG00000272989 OTTHUMG00000186169 XR_159035 HGNC:52847 +HGNC:52848 LINC02013 long intergenic non-protein coding RNA 2013 non-coding RNA RNA, long non-coding Approved 3q28 03q28 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105374272 ENSG00000228730 OTTHUMG00000156193 XR_007096214 HGNC:52848 +HGNC:52849 LINC02014 long intergenic non-protein coding RNA 2014 non-coding RNA RNA, long non-coding Approved 3q22.1 03q22.1 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105374105 ENSG00000248243 OTTHUMG00000159896 NR_146710 HGNC:52849 +HGNC:52850 LINC02015 long intergenic non-protein coding RNA 2015 non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 102724550 ENSG00000231574 OTTHUMG00000157236 NR_110826 HGNC:52850 +HGNC:52851 LINC02016 long intergenic non-protein coding RNA 2016 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 101927123 ENSG00000244215 OTTHUMG00000159640 NR_110147 HGNC:52851 +HGNC:52852 LINC02017 long intergenic non-protein coding RNA 2017 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105377096 ENSG00000243572 OTTHUMG00000158362 XR_940855 HGNC:52852 +HGNC:52853 LINC02018 long intergenic non-protein coding RNA 2018 non-coding RNA RNA, long non-coding Approved 3p12.3 03p12.3 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 107986100 ENSG00000272690 OTTHUMG00000185852 NR_151705 HGNC:52853 +HGNC:52854 LINC02019 long intergenic non-protein coding RNA 2019 non-coding RNA RNA, long non-coding Approved 3p21.2 03p21.2 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 107986085 ENSG00000273356 OTTHUMG00000175710 XR_001740695 HGNC:52854 +HGNC:52855 LINC02020 long intergenic non-protein coding RNA 2020 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 107986164 ENSG00000234548 OTTHUMG00000156616 NR_151708 HGNC:52855 +HGNC:52856 LINC02021 long intergenic non-protein coding RNA 2021 non-coding RNA RNA, long non-coding Approved 3q22.1 03q22.1 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105374104 ENSG00000249846 OTTHUMG00000159926 XR_924475 HGNC:52856 +HGNC:52857 LINC02022 long intergenic non-protein coding RNA 2022 non-coding RNA RNA, long non-coding Approved 3p25.2 03p25.2 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105376955 ENSG00000232746 OTTHUMG00000155439 NR_136189 HGNC:52857 +HGNC:52858 LINC02023 long intergenic non-protein coding RNA 2023 non-coding RNA RNA, long non-coding Approved 3q26.1 03q26.1 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 101928405 ENSG00000239205 OTTHUMG00000158073 XR_241610 HGNC:52858 +HGNC:52859 LINC02024 long intergenic non-protein coding RNA 2024 non-coding RNA RNA, long non-coding Approved 3q13.32 03q13.32 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105374057 ENSG00000241213 OTTHUMG00000159344 XR_001740489 HGNC:52859 +HGNC:52860 LINC02025 long intergenic non-protein coding RNA 2025 non-coding RNA RNA, long non-coding Approved 3p12.1 03p12.1 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105377192 ENSG00000242339 OTTHUMG00000159058 XR_001740560 HGNC:52860 +HGNC:52861 LINC02026 long intergenic non-protein coding RNA 2026 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 647323 ENSG00000214146 OTTHUMG00000155981 NR_033944 HGNC:52861 +HGNC:52862 LINC02027 long intergenic non-protein coding RNA 2027 non-coding RNA RNA, long non-coding Approved 3p12.2 03p12.2 LOC728290 Long intergenic non-protein coding RNAs 1986 2016-12-13 2017-11-02 728290 ENSG00000243694 OTTHUMG00000158949 NR_132411 29085452 HGNC:52862 +HGNC:27718 LINC02028 long intergenic non-protein coding RNA 2028 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2016-12-13 2017-01-27 285389 ENSG00000230102 OTTHUMG00000155989 NR_136179 HGNC:27718 +HGNC:52863 LINC02029 long intergenic non-protein coding RNA 2029 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105374177 ENSG00000241544 OTTHUMG00000158714 NR_135546 HGNC:52863 +HGNC:52864 LINC02030 long intergenic non-protein coding RNA 2030 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105377098 ENSG00000240708 OTTHUMG00000158359 XR_940861 HGNC:52864 +HGNC:52865 LINC02031 long intergenic non-protein coding RNA 2031 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 102724617 ENSG00000238837 OTTHUMG00000158297 XR_001741037 HGNC:52865 +HGNC:52866 LINC02032 long intergenic non-protein coding RNA 2032 non-coding RNA RNA, long non-coding Approved 3q24 03q24 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 100507461 ENSG00000241131 OTTHUMG00000159502 NR_134937 HGNC:52866 +HGNC:52867 LINC02033 long intergenic non-protein coding RNA 2033 non-coding RNA RNA, long non-coding Approved 3p22.2 03p22.2 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 105377031 ENSG00000279727 OTTHUMG00000189233 NR_147141 HGNC:52867 +HGNC:52868 LINC02034 long intergenic non-protein coding RNA 2034 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 Long intergenic non-protein coding RNAs 1986 2016-12-13 2016-12-13 107986125 ENSG00000282975 OTTHUMG00000191543 XR_001740885 HGNC:52868 +HGNC:52875 LINC02035 long intergenic non-protein coding RNA 2035 non-coding RNA RNA, long non-coding Approved 3q21.1 03q21.1 Long intergenic non-protein coding RNAs 1986 2016-12-15 2016-12-15 100129550 ENSG00000273033 OTTHUMG00000185944 NR_024618 HGNC:52875 +HGNC:52876 LINC02036 long intergenic non-protein coding RNA 2036 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2016-12-15 2016-12-15 100505920 ENSG00000225742 OTTHUMG00000155985 NR_125403 HGNC:52876 +HGNC:52877 LINC02037 long intergenic non-protein coding RNA 2037 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2016-12-15 2016-12-15 101929337 ENSG00000238097 OTTHUMG00000155986 NR_125402 HGNC:52877 +HGNC:52878 LINC02038 long intergenic non-protein coding RNA 2038 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2016-12-15 2016-12-15 105374285 ENSG00000229155 OTTHUMG00000156053 NR_146718 HGNC:52878 +HGNC:52879 LINC02039 long intergenic non-protein coding RNA 2039 non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Long intergenic non-protein coding RNAs 1986 2016-12-15 2016-12-15 102546228 ENSG00000248107 OTTHUMG00000163017 NR_105042 HGNC:52879 +HGNC:52880 LINC02040 long intergenic non-protein coding RNA 2040 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 Long intergenic non-protein coding RNAs 1986 2016-12-15 2016-12-15 102724763 ENSG00000243149 OTTHUMG00000158734 XR_001740737 HGNC:52880 +HGNC:52881 LINC02041 long intergenic non-protein coding RNA 2041 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 RP11-567G11.1 Long intergenic non-protein coding RNAs 1986 2016-12-15 2020-05-21 105374261 ENSG00000228952 OTTHUMG00000156460 NR_146716 32432737 HGNC:52881 +HGNC:52882 LINC02042 long intergenic non-protein coding RNA 2042 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 Long intergenic non-protein coding RNAs 1986 2016-12-15 2016-12-15 101929694 ENSG00000240893 OTTHUMG00000159320 NR_110017 HGNC:52882 +HGNC:52883 LINC02043 long intergenic non-protein coding RNA 2043 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 Long intergenic non-protein coding RNAs 1986 2016-12-15 2016-12-15 102724699 ENSG00000232233 OTTHUMG00000156520 NR_125409 HGNC:52883 +HGNC:52884 LINC02044 long intergenic non-protein coding RNA 2044 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 Long intergenic non-protein coding RNAs 1986 2016-12-15 2016-12-15 101929717 ENSG00000243795 OTTHUMG00000159355 NR_110823 HGNC:52884 +HGNC:52885 LINC02045 long intergenic non-protein coding RNA 2045 non-coding RNA RNA, long non-coding Approved 3q24 03q24 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 105374146 ENSG00000243347 OTTHUMG00000159504 XR_924564 HGNC:52885 +HGNC:52886 LINC02046 long intergenic non-protein coding RNA 2046 non-coding RNA RNA, long non-coding Approved 3q24 03q24 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 105374149 ENSG00000242440 OTTHUMG00000159505 NR_146712 HGNC:52886 +HGNC:52887 LINC02047 long intergenic non-protein coding RNA 2047 non-coding RNA RNA, long non-coding Approved 3p13 03p13 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 101927346 ENSG00000239454 OTTHUMG00000158838 XR_245076 HGNC:52887 +HGNC:52888 LINC02048 long intergenic non-protein coding RNA 2048 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 105374289 ENSG00000228271 OTTHUMG00000155983 XR_001741082 HGNC:52888 +HGNC:52889 LINC02049 long intergenic non-protein coding RNA 2049 non-coding RNA RNA, long non-coding Approved 3q13.33 03q13.33 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 101926983 ENSG00000243593 OTTHUMG00000159469 NR_135571 HGNC:52889 +HGNC:52890 LINC02050 long intergenic non-protein coding RNA 2050 non-coding RNA RNA, long non-coding Approved 3p12.2 03p12.2 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 105377175 ENSG00000242781 OTTHUMG00000158944 XR_940985 HGNC:52890 +HGNC:52891 LINC02051 long intergenic non-protein coding RNA 2051 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 Long intergenic non-protein coding RNAs 1986 2016-12-16 2017-08-03 107986165 ENSG00000226859 OTTHUMG00000156619 XR_001741057 HGNC:52891 +HGNC:27372 LINC02052 long intergenic non-protein coding RNA 2052 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 253573 ENSG00000224406 OTTHUMG00000156618 NR_033844 HGNC:27372 +HGNC:52893 LINC02053 long intergenic non-protein coding RNA 2053 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 100505609 ENSG00000241696 OTTHUMG00000157863 NR_132416 HGNC:52893 +HGNC:52894 LINC02054 long intergenic non-protein coding RNA 2054 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 Long intergenic non-protein coding RNAs 1986 2016-12-16 2021-02-11 105374250 ENSG00000224153 OTTHUMG00000156732 NR_161198 HGNC:52894 +HGNC:52895 LINC02055 long intergenic non-protein coding RNA 2055 non-coding RNA RNA, long non-coding Approved 8q24.23 08q24.23 RP1130-1 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 107986980 ENSG00000254101 OTTHUMG00000164139 NR_147196 27773892 HGNC:52895 +HGNC:52898 LINC02056 long intergenic non-protein coding RNA 2056 non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 102477328 ENSG00000248371 OTTHUMG00000163319 NR_105007 HGNC:52898 +HGNC:52900 LINC02057 long intergenic non-protein coding RNA 2057 non-coding RNA RNA, long non-coding Approved 5q12.1 05q12.1 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 105378992 ENSG00000249279 OTTHUMG00000162244 NR_146624 HGNC:52900 +HGNC:52901 LINC02058 long intergenic non-protein coding RNA 2058 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 107984117 ENSG00000248528 OTTHUMG00000162626 XR_001742811 HGNC:52901 +HGNC:52902 LINC02059 long intergenic non-protein coding RNA 2059 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 100505878 ENSG00000250544 OTTHUMG00000162607 NR_105017 HGNC:52902 +HGNC:52904 LINC02060 long intergenic non-protein coding RNA 2060 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 102546226 ENSG00000250156 OTTHUMG00000185341 NR_105021 HGNC:52904 +HGNC:52906 LINC02061 long intergenic non-protein coding RNA 2061 non-coding RNA RNA, long non-coding Approved 5p13.3 05p13.3 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 105374714 ENSG00000250885 OTTHUMG00000162001 XR_007058722 HGNC:52906 +HGNC:52908 LINC02063 long intergenic non-protein coding RNA 2063 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 105374627 ENSG00000250921 OTTHUMG00000161635 XR_925715 HGNC:52908 +HGNC:52909 LINC02064 long intergenic non-protein coding RNA 2064 non-coding RNA RNA, long non-coding Approved 5p13.3 05p13.3 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 101929681 ENSG00000248391 OTTHUMG00000161939 NR_104628 HGNC:52909 +HGNC:52910 LINC02065 long intergenic non-protein coding RNA 2065 non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 Long intergenic non-protein coding RNAs 1986 2016-12-16 2016-12-16 101928741 ENSG00000248846 OTTHUMG00000164089 NR_146488 HGNC:52910 +HGNC:52911 LINC02066 long intergenic non-protein coding RNA 2066 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 105374158 ENSG00000241151 OTTHUMG00000159875 XR_924582 HGNC:52911 +HGNC:52913 LINC02067 long intergenic non-protein coding RNA 2067 non-coding RNA RNA, long non-coding Approved 3q26.1 03q26.1 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 101243545 ENSG00000240567 OTTHUMG00000159075 NR_102265 HGNC:52913 +HGNC:52914 LINC02068 long intergenic non-protein coding RNA 2068 non-coding RNA RNA, long non-coding Approved 3q26.31 03q26.31 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 105374219 ENSG00000223387 OTTHUMG00000156985 NR_146714 HGNC:52914 +HGNC:52915 LINC02069 long intergenic non-protein coding RNA 2069 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 101928992 ENSG00000229433 OTTHUMG00000156711 NR_110043 HGNC:52915 +HGNC:52916 LINC02070 long intergenic non-protein coding RNA 2070 non-coding RNA RNA, long non-coding Approved 3p12.1 03p12.1 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 101927494 ENSG00000241328 OTTHUMG00000158995 NR_135563 HGNC:52916 +HGNC:52917 LINC02071 long intergenic non-protein coding RNA 2071 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 101927274 ENSG00000249383 OTTHUMG00000162372 NR_110751 HGNC:52917 +HGNC:52918 LINC02072 long intergenic non-protein coding RNA 2072 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 Long intergenic non-protein coding RNAs 1986 2016-12-19 2020-01-24 440446 OTTHUMG00000162374 NR_122104 HGNC:52918 +HGNC:52919 LINC02073 long intergenic non-protein coding RNA 2073 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 105371828 ENSG00000267452 OTTHUMG00000162380 NR_146897 HGNC:52919 +HGNC:52920 LINC02074 long intergenic non-protein coding RNA 2074 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 102723567 ENSG00000266357 OTTHUMG00000178576 XR_001753000 HGNC:52920 +HGNC:52921 LINC02075 long intergenic non-protein coding RNA 2075 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 101927207 ENSG00000249497 OTTHUMG00000161494 NR_110805 HGNC:52921 +HGNC:52924 LINC02076 long intergenic non-protein coding RNA 2076 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 FLJ35934 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 400579 ENSG00000220161 OTTHUMG00000179643 NR_104343 HGNC:52924 +HGNC:52925 LINC02077 long intergenic non-protein coding RNA 2077 non-coding RNA RNA, long non-coding Approved 3p12.3 03p12.3 Long intergenic non-protein coding RNAs 1986 2016-12-19 2016-12-19 105377172 ENSG00000244461 OTTHUMG00000158840 XR_940980 HGNC:52925 +HGNC:52926 LINC02078 long intergenic non-protein coding RNA 2078 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 HP09025 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 100652929 ENSG00000267719 OTTHUMG00000177461 NR_109783 HGNC:52926 +HGNC:52927 LINC02079 long intergenic non-protein coding RNA 2079 non-coding RNA RNA, long non-coding Approved 17q12 17q12 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 105371766 ENSG00000266013 OTTHUMG00000178953 NR_135645 HGNC:52927 +HGNC:52928 LINC02080 long intergenic non-protein coding RNA 2080 non-coding RNA RNA, long non-coding Approved 17q25.1-q25.2 17q25.1-q25.2 "FLJ30938|CTD-2246P4.1" Long intergenic non-protein coding RNAs 1986 2016-12-20 2021-11-25 101928514 ENSG00000267065 OTTHUMG00000177702 NR_110837 26556537 HGNC:52928 +HGNC:52931 LINC02082 long intergenic non-protein coding RNA 2082 non-coding RNA RNA, long non-coding Approved 3q26.2 03q26.2 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 100507661 ENSG00000242268 OTTHUMG00000158577 NR_109989 HGNC:52931 +HGNC:52933 LINC02083 long intergenic non-protein coding RNA 2083 non-coding RNA RNA, long non-coding Approved 3q25.2 03q25.2 Long intergenic non-protein coding RNAs 1986 2016-12-20 2020-01-24 107986147 OTTHUMG00000159628 XR_001740977 HGNC:52933 +HGNC:52934 LINC02084 long intergenic non-protein coding RNA 2084 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 105377006 ENSG00000272282 OTTHUMG00000185461 XR_007095851 HGNC:52934 +HGNC:27190 LINC02085 long intergenic non-protein coding RNA 2085 non-coding RNA RNA, long non-coding Approved 3q12.3 03q12.3 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 152225 ENSG00000214407 OTTHUMG00000159212 NR_026934 HGNC:27190 +HGNC:52936 LINC02086 long intergenic non-protein coding RNA 2086 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 105371809 ENSG00000244649 OTTHUMG00000159905 XR_934818 HGNC:52936 +HGNC:52938 LINC02087 long intergenic non-protein coding RNA 2087 non-coding RNA RNA, long non-coding Approved 17p12 17p12 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 101928567 ENSG00000237057 OTTHUMG00000059147 NR_110839 HGNC:52938 +HGNC:52939 LINC02088 long intergenic non-protein coding RNA 2088 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 105371582 ENSG00000227685 OTTHUMG00000059551 NR_146887 HGNC:52939 +HGNC:52940 LINC02089 long intergenic non-protein coding RNA 2089 non-coding RNA RNA, long non-coding Approved 17q22 17q22 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 105371831 ENSG00000226364 OTTHUMG00000132354 NR_146899 HGNC:52940 +HGNC:52941 LINC02090 long intergenic non-protein coding RNA 2090 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 105371562 ENSG00000230969 OTTHUMG00000059263 NR_146886 HGNC:52941 +HGNC:52942 LINC02091 long intergenic non-protein coding RNA 2091 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 100506371 ENSG00000273172 OTTHUMG00000132133 NR_104420 HGNC:52942 +HGNC:52943 LINC02092 long intergenic non-protein coding RNA 2092 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 400620 ENSG00000234721 OTTHUMG00000132223 NR_040020 HGNC:52943 +HGNC:52944 LINC02093 long intergenic non-protein coding RNA 2093 non-coding RNA RNA, long non-coding Approved 17p12 17p12 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 105371541 ENSG00000234634 OTTHUMG00000058770 NR_146885 HGNC:52944 +HGNC:52945 LINC02094 long intergenic non-protein coding RNA 2094 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 107984995 ENSG00000227078 OTTHUMG00000059602 HGNC:52945 +HGNC:52947 LINC02096 long intergenic non-protein coding RNA 2096 non-coding RNA RNA, long non-coding Approved 17p12 17p12 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 107984977 ENSG00000238212 OTTHUMG00000058804 XR_001753053 HGNC:52947 +HGNC:52948 LINC02097 long intergenic non-protein coding RNA 2097 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 Long intergenic non-protein coding RNAs 1986 2016-12-20 2016-12-20 101928205 ENSG00000226101 OTTHUMG00000132235 NR_110827 HGNC:52948 +HGNC:52950 LINC02098 long intergenic non-protein coding RNA 2098 non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 RP11-702B10.1 Long intergenic non-protein coding RNAs 1986 2016-12-21 2016-12-21 105369564 ENSG00000272575 OTTHUMG00000186086 NR_146647 27714034 HGNC:52950 +HGNC:52953 LINC02099 long intergenic non-protein coding RNA 2099 non-coding RNA RNA, long non-coding Approved 8p12 08p12 AC145110.1 Long intergenic non-protein coding RNAs 1986 2016-12-21 2017-03-10 101929450 ENSG00000253490 OTTHUMG00000163801 NR_125815 "27716329|27597120" HGNC:52953 +HGNC:52955 LINC02100 long intergenic non-protein coding RNA 2100 non-coding RNA RNA, long non-coding Approved 5p14.3 05p14.3 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 107986408 ENSG00000248693 OTTHUMG00000161873 XR_001742616 HGNC:52955 +HGNC:52956 LINC02101 long intergenic non-protein coding RNA 2101 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 101928569 ENSG00000248132 OTTHUMG00000162196 NR_104669 HGNC:52956 +HGNC:52957 LINC02102 long intergenic non-protein coding RNA 2102 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 100505625 ENSG00000248677 OTTHUMG00000161705 NR_103771 HGNC:52957 +HGNC:52958 LINC02103 long intergenic non-protein coding RNA 2103 non-coding RNA RNA, long non-coding Approved 5p14.1 05p14.1 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 105374698 ENSG00000249785 OTTHUMG00000161925 NR_134265 HGNC:52958 +HGNC:52959 LINC02104 long intergenic non-protein coding RNA 2104 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 101926940 ENSG00000271334 OTTHUMG00000185121 NR_104632 HGNC:52959 +HGNC:52960 LINC02105 long intergenic non-protein coding RNA 2105 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 105378966 ENSG00000250447 OTTHUMG00000162282 NR_147167 HGNC:52960 +HGNC:52961 LINC02106 long intergenic non-protein coding RNA 2106 non-coding RNA RNA, long non-coding Approved 5q11.1 05q11.1 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 100287592 ENSG00000251573 OTTHUMG00000162408 NR_104653 HGNC:52961 +HGNC:52962 LINC02107 long intergenic non-protein coding RNA 2107 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 105374731 ENSG00000250003 OTTHUMG00000162104 NR_147009 HGNC:52962 +HGNC:52963 LINC02108 long intergenic non-protein coding RNA 2108 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 101928600 ENSG00000250127 OTTHUMG00000162427 NR_109904 HGNC:52963 +HGNC:52964 LINC02109 long intergenic non-protein coding RNA 2109 non-coding RNA RNA, long non-coding Approved 5p13.3 05p13.3 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 101929660 ENSG00000259786 OTTHUMG00000161936 NR_130777 HGNC:52964 +HGNC:52965 LINC02110 long intergenic non-protein coding RNA 2110 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 105374729 ENSG00000251518 OTTHUMG00000162103 NR_134262 HGNC:52965 +HGNC:52966 LINC02111 long intergenic non-protein coding RNA 2111 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 401177 ENSG00000250822 OTTHUMG00000161877 NR_033975 HGNC:52966 +HGNC:27756 LINC02112 long intergenic non-protein coding RNA 2112 non-coding RNA RNA, long non-coding Approved 5p15.31-p15.2 05p15.31-p15.2 Long intergenic non-protein coding RNAs 1986 2016-12-22 2020-01-29 285692 ENSG00000249781 OTTHUMG00000161688 NR_027112 HGNC:27756 +HGNC:52967 LINC02113 long intergenic non-protein coding RNA 2113 non-coding RNA RNA, long non-coding Approved 5q21.1 05q21.1 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 102724855 ENSG00000249515 OTTHUMG00000162763 NR_110562 HGNC:52967 +HGNC:52968 LINC02114 long intergenic non-protein coding RNA 2114 non-coding RNA RNA, long non-coding Approved 5p15.32 05p15.32 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 101929153 ENSG00000249521 OTTHUMG00000161644 NR_104619 HGNC:52968 +HGNC:52970 LINC02115 long intergenic non-protein coding RNA 2115 non-coding RNA RNA, long non-coding Approved 5q21.2 05q21.2 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 102467212 ENSG00000248757 OTTHUMG00000162779 NR_104670 HGNC:52970 +HGNC:52971 LINC02116 long intergenic non-protein coding RNA 2116 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 101929034 ENSG00000250417 OTTHUMG00000161601 NR_104602 HGNC:52971 +HGNC:52972 LINC02117 long intergenic non-protein coding RNA 2117 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 105374728 ENSG00000248539 OTTHUMG00000162107 XR_925922 HGNC:52972 +HGNC:52974 LINC02118 long intergenic non-protein coding RNA 2118 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 105378960 ENSG00000248789 OTTHUMG00000162170 NR_147166 HGNC:52974 +HGNC:52975 LINC02119 long intergenic non-protein coding RNA 2119 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 101929745 ENSG00000248461 OTTHUMG00000162113 NR_134272 HGNC:52975 +HGNC:27971 LINC02120 long intergenic non-protein coding RNA 2120 non-coding RNA RNA, long non-coding Approved 5p13.3 05p13.3 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 340113 ENSG00000248279 OTTHUMG00000162007 NR_033832 HGNC:27971 +HGNC:52977 LINC02121 long intergenic non-protein coding RNA 2121 non-coding RNA RNA, long non-coding Approved 5p15.32 05p15.32 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 105374631 ENSG00000250529 OTTHUMG00000161660 NR_134266 HGNC:52977 +HGNC:52979 LINC02122 long intergenic non-protein coding RNA 2122 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 105379036 ENSG00000248474 OTTHUMG00000162456 XR_948477 HGNC:52979 +HGNC:52980 LINC02123 long intergenic non-protein coding RNA 2123 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 Long intergenic non-protein coding RNAs 1986 2016-12-22 2016-12-22 101929261 ENSG00000250668 OTTHUMG00000161901 NR_134277 HGNC:52980 +HGNC:52981 LINC02124 long intergenic non-protein coding RNA 2124 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Long intergenic non-protein coding RNAs 1986 2017-01-03 2017-01-03 105371048 ENSG00000259947 OTTHUMG00000176814 NR_146568 HGNC:52981 +HGNC:52982 LINC02125 long intergenic non-protein coding RNA 2125 non-coding RNA RNA, long non-coding Approved 16q23.1 16q23.1 Long intergenic non-protein coding RNAs 1986 2017-01-03 2017-01-03 101928203 ENSG00000250514 OTTHUMG00000173062 NR_110934 HGNC:52982 +HGNC:52983 LINC02126 long intergenic non-protein coding RNA 2126 non-coding RNA RNA, long non-coding Approved 16q21 16q21 Long intergenic non-protein coding RNAs 1986 2017-01-03 2017-01-03 101927650 ENSG00000259847 OTTHUMG00000172809 NR_110918 HGNC:52983 +HGNC:52985 LINC02127 long intergenic non-protein coding RNA 2127 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 101927334 ENSG00000261637 OTTHUMG00000173284 NR_110913 HGNC:52985 +HGNC:52986 LINC02128 long intergenic non-protein coding RNA 2128 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 LINC02187 long intergenic non-protein coding RNA 2187 Long intergenic non-protein coding RNAs 1986 2017-01-04 2020-01-24 102724940 ENSG00000261241 OTTHUMG00000173283 XR_001752171 HGNC:52986 +HGNC:52988 LINC02129 long intergenic non-protein coding RNA 2129 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 105371156 ENSG00000261045 OTTHUMG00000177036 NR_170200 HGNC:52988 +HGNC:52989 LINC02130 long intergenic non-protein coding RNA 2130 non-coding RNA RNA, long non-coding Approved 16p13.12 16p13.12 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 105447648 ENSG00000260009 OTTHUMG00000176060 NR_131191 HGNC:52989 +HGNC:52991 LINC02131 long intergenic non-protein coding RNA 2131 non-coding RNA RNA, long non-coding Approved 16q23.1 16q23.1 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 105371350 ENSG00000261154 OTTHUMG00000176842 XR_933754 HGNC:52991 +HGNC:52992 LINC02132 long intergenic non-protein coding RNA 2132 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 107984811 ENSG00000268804 OTTHUMG00000183858 XR_001752391 HGNC:52992 +HGNC:52993 LINC02133 long intergenic non-protein coding RNA 2133 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 101927132 ENSG00000261231 OTTHUMG00000175450 NR_110650 HGNC:52993 +HGNC:52994 LINC02134 long intergenic non-protein coding RNA 2134 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 105371238 ENSG00000260450 OTTHUMG00000175451 NR_146502 HGNC:52994 +HGNC:27094 LINC02135 long intergenic non-protein coding RNA 2135 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 146513 ENSG00000268532 OTTHUMG00000183866 NR_038438 12477932 HGNC:27094 +HGNC:52995 LINC02136 long intergenic non-protein coding RNA 2136 non-coding RNA RNA, long non-coding Approved 16q22.2 16q22.2 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 105371333 ENSG00000261348 OTTHUMG00000176795 NR_146574 HGNC:52995 +HGNC:52997 LINC02137 long intergenic non-protein coding RNA 2137 non-coding RNA RNA, long non-coding Approved 16q21 16q21 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 105371295 ENSG00000260186 OTTHUMG00000175407 XR_001752223 HGNC:52997 +HGNC:52998 LINC02138 long intergenic non-protein coding RNA 2138 non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 400558 ENSG00000205015 OTTHUMG00000175525 NR_046200 HGNC:52998 +HGNC:52999 LINC02139 long intergenic non-protein coding RNA 2139 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 400548 ENSG00000278214 OTTHUMG00000187071 NR_033984 HGNC:52999 +HGNC:53000 LINC02140 long intergenic non-protein coding RNA 2140 non-coding RNA RNA, long non-coding Approved 16q12.2 16q12.2 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 100996345 ENSG00000261803 OTTHUMG00000173086 NR_134922 HGNC:53000 +HGNC:53001 LINC02141 long intergenic non-protein coding RNA 2141 non-coding RNA RNA, long non-coding Approved 16q21 16q21 Long intergenic non-protein coding RNAs 1986 2017-01-04 2017-01-04 101927580 ENSG00000261807 OTTHUMG00000173092 NR_110917 HGNC:53001 +HGNC:53002 LINC02142 long intergenic non-protein coding RNA 2142 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 105374644 ENSG00000223597 OTTHUMG00000161895 XR_001742596 HGNC:53002 +HGNC:53003 LINC02143 long intergenic non-protein coding RNA 2143 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 101927835 ENSG00000253236 OTTHUMG00000162886 NR_105064 HGNC:53003 +HGNC:53004 LINC02144 long intergenic non-protein coding RNA 2144 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 105379069 ENSG00000248708 OTTHUMG00000162593 XR_002956219 HGNC:53004 +HGNC:53005 LINC02145 long intergenic non-protein coding RNA 2145 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 FLJ33360 Long intergenic non-protein coding RNAs 1986 2017-01-05 2019-07-11 401172 ENSG00000250490 OTTHUMG00000161679 NR_028351 31239715 HGNC:53005 +HGNC:53006 LINC02146 long intergenic non-protein coding RNA 2146 non-coding RNA RNA, long non-coding Approved 5p14.3 05p14.3 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 105374677 ENSG00000249490 OTTHUMG00000162017 NR_147185 HGNC:53006 +HGNC:53007 LINC02147 long intergenic non-protein coding RNA 2147 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 102467224 ENSG00000249797 OTTHUMG00000162888 NR_104997 HGNC:53007 +HGNC:53008 LINC02148 long intergenic non-protein coding RNA 2148 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 100505811 ENSG00000250427 OTTHUMG00000162887 NR_104609 HGNC:53008 +HGNC:53010 LINC02149 long intergenic non-protein coding RNA 2149 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 Long intergenic non-protein coding RNAs 1986 2017-01-05 2019-05-17 101929454 ENSG00000249332 OTTHUMG00000161793 NR_109944 HGNC:53010 +HGNC:53012 LINC02150 long intergenic non-protein coding RNA 2150 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 101929505 ENSG00000248150 OTTHUMG00000161787 NR_104625 HGNC:53012 +HGNC:53013 LINC02151 long intergenic non-protein coding RNA 2151 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 TCONS_00019174 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 109729162 ENSG00000236437 OTTHUMG00000045137 NR_174967 28039689 +HGNC:53014 LINC02152 long intergenic non-protein coding RNA 2152 non-coding RNA RNA, long non-coding Approved 16p13.2 16p13.2 ENST00000566208 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 105371071 ENSG00000261319 OTTHUMG00000176058 XR_001752070 28039689 HGNC:53014 +HGNC:27823 LINC02153 long intergenic non-protein coding RNA 2153 non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 ENST00000517573 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 286114 ENSG00000253199 OTTHUMG00000163761 NR_033894 28039689 HGNC:27823 +HGNC:53015 LINC02154 long intergenic non-protein coding RNA 2154 non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 GS1-600G8.5 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 109729169 ENSG00000235385 OTTHUMG00000021149 NR_146309 28028307 HGNC:53015 +HGNC:53016 LINC02155 long intergenic non-protein coding RNA 2155 non-coding RNA RNA, long non-coding Approved 8q12.3 08q12.3 RP11-705O24.1 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 111082988 ENSG00000254120 OTTHUMG00000164340 AI216380 NR_149085 28028307 HGNC:53016 +HGNC:53017 LINC02156 long intergenic non-protein coding RNA 2156 non-coding RNA RNA, long non-coding Approved 12q13.11 12q13.11 RP1-90J4.1 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 111082992 ENSG00000257906 OTTHUMG00000169664 AA758413 NR_149087 28028307 HGNC:53017 +HGNC:53018 LINC02157 long intergenic non-protein coding RNA 2157 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 RP11-327J17.1 Long intergenic non-protein coding RNAs 1986 2017-01-05 2017-01-05 111082990 ENSG00000259763 OTTHUMG00000171854 AI580156 28028307 +HGNC:27749 LINC02159 long intergenic non-protein coding RNA 2159 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Long intergenic non-protein coding RNAs 1986 2017-01-06 2017-01-06 285629 ENSG00000253417 OTTHUMG00000163562 NR_027111 HGNC:27749 +HGNC:53021 LINC02160 long intergenic non-protein coding RNA 2160 non-coding RNA RNA, long non-coding Approved 5p13.3 05p13.3 Long intergenic non-protein coding RNAs 1986 2017-01-06 2017-01-06 105374716 ENSG00000251443 OTTHUMG00000162002 NR_147008 HGNC:53021 +HGNC:53022 LINC02161 long intergenic non-protein coding RNA 2161 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Long intergenic non-protein coding RNAs 1986 2017-01-06 2017-01-06 105379076 ENSG00000250437 OTTHUMG00000162669 XR_948556 HGNC:53022 +HGNC:53023 LINC02162 long intergenic non-protein coding RNA 2162 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Long intergenic non-protein coding RNAs 1986 2017-01-06 2017-01-06 105374624 ENSG00000249830 OTTHUMG00000161631 NR_147000 HGNC:53023 +HGNC:53024 LINC02163 long intergenic non-protein coding RNA 2163 non-coding RNA RNA, long non-coding Approved 5q21.2 05q21.2 NIHCOLE Noncoding RNA induced in Hepatocellular Carcinoma with an Oncogenic role in Ligation Efficiency Long intergenic non-protein coding RNAs 1986 2017-01-06 2021-11-08 107986389 ENSG00000251026 OTTHUMG00000162778 XR_001742526 34321241 HGNC:53024 +HGNC:53025 LINC02164 long intergenic non-protein coding RNA 2164 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Long intergenic non-protein coding RNAs 1986 2017-01-09 2017-01-09 105371066 ENSG00000261811 OTTHUMG00000177110 XR_933032 HGNC:53025 +HGNC:53026 LINC02165 long intergenic non-protein coding RNA 2165 non-coding RNA RNA, long non-coding Approved 16q21 16q21 Long intergenic non-protein coding RNAs 1986 2017-01-09 2017-01-09 101927629 ENSG00000261014 OTTHUMG00000175762 XR_243458 HGNC:53026 +HGNC:53027 LINC02166 long intergenic non-protein coding RNA 2166 non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 Long intergenic non-protein coding RNAs 1986 2017-01-09 2017-01-09 105371416 ENSG00000260259 OTTHUMG00000173427 XR_001752310 HGNC:53027 +HGNC:53028 LINC02167 long intergenic non-protein coding RNA 2167 non-coding RNA RNA, long non-coding Approved 16p11.1 16p11.1 FLJ26245 Long intergenic non-protein coding RNAs 1986 2017-01-09 2017-01-09 400533 ENSG00000261122 OTTHUMG00000176021 NR_033985 HGNC:53028 +HGNC:53030 LINC02168 long intergenic non-protein coding RNA 2168 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Long intergenic non-protein coding RNAs 1986 2017-01-09 2017-01-09 105371252 ENSG00000261703 OTTHUMG00000173406 NR_146573 HGNC:53030 +HGNC:53031 LINC02169 long intergenic non-protein coding RNA 2169 non-coding RNA RNA, long non-coding Approved 16q12.2 16q12.2 Long intergenic non-protein coding RNAs 1986 2017-01-09 2017-01-09 100996338 ENSG00000259517 OTTHUMG00000172230 NR_126340 HGNC:53031 +HGNC:53033 LINC02171 long intergenic non-protein coding RNA 2171 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 Long intergenic non-protein coding RNAs 1986 2017-01-10 2017-01-10 100133461 ENSG00000250632 OTTHUMG00000159968 NR_034136 HGNC:53033 +HGNC:53034 LINC02172 long intergenic non-protein coding RNA 2172 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2017-01-10 2017-01-10 105377443 ENSG00000251632 OTTHUMG00000161349 NR_146553 HGNC:53034 +HGNC:53035 LINC02173 long intergenic non-protein coding RNA 2173 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Long intergenic non-protein coding RNAs 1986 2017-01-10 2017-01-10 105377355 ENSG00000249613 OTTHUMG00000160992 NR_147150 HGNC:53035 +HGNC:53037 LINC02174 long intergenic non-protein coding RNA 2174 non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 Long intergenic non-protein coding RNAs 1986 2017-01-10 2017-01-10 105377536 ENSG00000249297 OTTHUMG00000160881 NR_147157 HGNC:53037 +HGNC:27550 LINC02175 long intergenic non-protein coding RNA 2175 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 283887 ENSG00000262155 OTTHUMG00000177404 NR_135196 12477932 HGNC:27550 +HGNC:53038 LINC02176 long intergenic non-protein coding RNA 2176 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 105371379 ENSG00000260340 OTTHUMG00000176804 XR_933830 HGNC:53038 +HGNC:53039 LINC02177 long intergenic non-protein coding RNA 2177 non-coding RNA RNA, long non-coding Approved 16p13.2 16p13.2 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 101927009 ENSG00000261617 OTTHUMG00000177055 NR_135195 HGNC:53039 +HGNC:53040 LINC02178 long intergenic non-protein coding RNA 2178 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 105371248 ENSG00000261092 OTTHUMG00000173393 NR_146572 HGNC:53040 +HGNC:53041 LINC02179 long intergenic non-protein coding RNA 2179 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 RP11-189E14.4 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-02-09 101927228 ENSG00000261623 OTTHUMG00000173490 XR_243442 28128360 HGNC:53041 +HGNC:53042 LINC02180 long intergenic non-protein coding RNA 2180 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 102467079 ENSG00000261749 OTTHUMG00000173236 NR_104655 HGNC:53042 +HGNC:53043 LINC02181 long intergenic non-protein coding RNA 2181 non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 440390 ENSG00000232190 OTTHUMG00000175678 NR_126008 HGNC:53043 +HGNC:53044 LINC02182 long intergenic non-protein coding RNA 2182 non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 101928880 ENSG00000260420 OTTHUMG00000175545 NR_110944 HGNC:53044 +HGNC:53045 LINC02183 long intergenic non-protein coding RNA 2183 non-coding RNA RNA, long non-coding Approved 16q12.2 16q12.2 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 105371273 ENSG00000283304 OTTHUMG00000191631 XR_933595 HGNC:53045 +HGNC:53046 LINC02184 long intergenic non-protein coding RNA 2184 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 100505948 ENSG00000260854 OTTHUMG00000176221 XR_110136 HGNC:53046 +HGNC:53047 LINC02185 long intergenic non-protein coding RNA 2185 non-coding RNA RNA, long non-coding Approved 16p13.12 16p13.12 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 101927311 ENSG00000262097 OTTHUMG00000177377 NR_110909 HGNC:53047 +HGNC:53048 LINC02186 long intergenic non-protein coding RNA 2186 non-coding RNA RNA, long non-coding Approved 16p13.12 16p13.12 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 101927348 ENSG00000261856 OTTHUMG00000177378 NR_110915 HGNC:53048 +HGNC:53050 LINC02188 long intergenic non-protein coding RNA 2188 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 102724344 ENSG00000261175 OTTHUMG00000176484 NR_135182 HGNC:53050 +HGNC:53051 LINC02189 long intergenic non-protein coding RNA 2189 non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 101928614 ENSG00000260026 OTTHUMG00000176294 NR_135181 HGNC:53051 +HGNC:53052 LINC02190 long intergenic non-protein coding RNA 2190 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 105371173 ENSG00000261475 OTTHUMG00000177758 NR_146571 HGNC:53052 +HGNC:53053 LINC02191 long intergenic non-protein coding RNA 2191 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 105371146 ENSG00000261636 OTTHUMG00000177070 XR_002957905 HGNC:53053 +HGNC:53054 LINC02192 long intergenic non-protein coding RNA 2192 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 100507534 ENSG00000261325 OTTHUMG00000175449 NR_110649 HGNC:53054 +HGNC:53055 LINC02193 long intergenic non-protein coding RNA 2193 non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 105371423 ENSG00000260923 OTTHUMG00000172851 HGNC:53055 +HGNC:53057 LINC02194 long intergenic non-protein coding RNA 2194 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 LINC2194 Long intergenic non-protein coding RNAs 1986 2017-01-11 2019-12-20 2019-12-20 105371142 ENSG00000260264 OTTHUMG00000177234 NR_146569 HGNC:53057 +HGNC:53058 LINC02195 long intergenic non-protein coding RNA 2195 non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 Long intergenic non-protein coding RNAs 1986 2017-01-11 2017-01-11 105371152 ENSG00000236481 OTTHUMG00000060136 XR_950949 HGNC:53058 +HGNC:53062 LINC02196 long intergenic non-protein coding RNA 2196 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 Long intergenic non-protein coding RNAs 1986 2017-01-13 2017-01-13 107986402 ENSG00000250974 OTTHUMG00000161651 XR_001742592 HGNC:53062 +HGNC:53063 LINC02197 long intergenic non-protein coding RNA 2197 non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 Long intergenic non-protein coding RNAs 1986 2017-01-13 2017-01-13 102724392 ENSG00000250387 OTTHUMG00000163654 NR_134268 HGNC:53063 +HGNC:53064 LINC02198 long intergenic non-protein coding RNA 2198 non-coding RNA RNA, long non-coding Approved 5q13.1 05q13.1 Long intergenic non-protein coding RNAs 1986 2017-01-13 2017-01-13 101928885 ENSG00000249352 OTTHUMG00000162336 NR_130778 HGNC:53064 +HGNC:53065 LINC02199 long intergenic non-protein coding RNA 2199 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 Long intergenic non-protein coding RNAs 1986 2017-01-13 2017-01-13 101929284 ENSG00000250198 OTTHUMG00000161722 NR_109932 HGNC:53065 +HGNC:53066 LINC02200 long intergenic non-protein coding RNA 2200 non-coding RNA RNA, long non-coding Approved 5q22.2 05q22.2 RP11-159K7.2 Long intergenic non-protein coding RNAs 1986 2017-01-13 2021-07-20 102467214 ENSG00000250358 OTTHUMG00000162901 NR_104672 32363688 HGNC:53066 +HGNC:53067 LINC02201 long intergenic non-protein coding RNA 2201 non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Long intergenic non-protein coding RNAs 1986 2017-01-13 2017-09-21 101927379 ENSG00000251538 OTTHUMG00000162984 NR_109881 28900495 HGNC:53067 +HGNC:53068 LINC02202 long intergenic non-protein coding RNA 2202 non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 Long intergenic non-protein coding RNAs 1986 2017-01-13 2017-08-16 101927740 ENSG00000245812 OTTHUMG00000163513 NR_109890 28792927 HGNC:53068 +HGNC:53069 LINC02203 long intergenic non-protein coding RNA 2203 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 Long intergenic non-protein coding RNAs 1986 2017-01-17 2017-01-17 727924 ENSG00000280709 OTTHUMG00000190197 NR_015416 HGNC:53069 +HGNC:53070 LINC02204 long intergenic non-protein coding RNA 2204 non-coding RNA RNA, long non-coding Approved 15q23 15q23 Long intergenic non-protein coding RNAs 1986 2017-01-17 2017-01-17 101929151 ENSG00000280639 OTTHUMG00000189720 NR_135691 HGNC:53070 +HGNC:53071 LINC02205 long intergenic non-protein coding RNA 2205 non-coding RNA RNA, long non-coding Approved 15q23 15q23 Long intergenic non-protein coding RNAs 1986 2017-01-17 2017-01-17 105370880 ENSG00000259473 OTTHUMG00000172125 NR_146562 HGNC:53071 +HGNC:53072 LINC02206 long intergenic non-protein coding RNA 2206 non-coding RNA RNA, long non-coding Approved 15q22.32 15q22.32 Long intergenic non-protein coding RNAs 1986 2017-01-17 2017-01-17 102723481 ENSG00000259289 OTTHUMG00000172297 NR_135687 HGNC:53072 +HGNC:53073 LINC02207 long intergenic non-protein coding RNA 2207 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 Long intergenic non-protein coding RNAs 1986 2017-01-17 2017-01-17 101927153 ENSG00000258476 OTTHUMG00000171799 NR_120321 HGNC:53073 +HGNC:52978 LINC02208 long intergenic non-protein coding RNA 2208 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 HRAT56 heart tissue-associated transcript 56 Long intergenic non-protein coding RNAs 1986 2017-01-18 2017-03-22 101927280 ENSG00000250891 OTTHUMG00000162951 NR_104610 HGNC:52978 +HGNC:27827 LINC02209 long intergenic non-protein coding RNA 2209 non-coding RNA RNA, long non-coding Approved 8p12 08p12 FAM183CP "family with sequence similarity 183, member C, pseudogene|family with sequence similarity 183 member C, pseudogene" Long intergenic non-protein coding RNAs 1986 2013-06-07 2017-01-19 2017-01-19 2017-01-19 286135 ENSG00000253279 OTTHUMG00000163817 NR_024473 12477932 PGOHUM00000303492 HGNC:27827 +HGNC:26327 LINC02210 long intergenic non-protein coding RNA 2210 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 FLJ25168 "C17orf69|CRHR1-IT1" "chromosome 17 open reading frame 69|CRHR1 intronic transcript 1 (non-protein coding)|CRHR1 intronic transcript 1|LINC.tmp695175" Long intergenic non-protein coding RNAs 1986 2005-12-16 2017-02-01 2017-02-01 2017-02-01 147081 ENSG00000204650 uc284oiq.1 AK057897 NR_026680 HGNC:26327 +HGNC:51483 LINC02210-CRHR1 LINC02210-CRHR1 readthrough other readthrough Approved 17q21.31 17q21.31 2017-02-01 2017-02-01 104909134 ENSG00000263715 NM_001303016 MGI:88498 HGNC:51483 +HGNC:53078 LINC02211 long intergenic non-protein coding RNA 2211 non-coding RNA RNA, long non-coding Approved 5p14.1 05p14.1 Long intergenic non-protein coding RNAs 1986 2017-02-03 2017-02-03 105374693 ENSG00000245662 OTTHUMG00000161960 NR_136209 HGNC:53078 +HGNC:53079 LINC02212 long intergenic non-protein coding RNA 2212 non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 Long intergenic non-protein coding RNAs 1986 2017-02-03 2017-02-03 101929412 ENSG00000249396 OTTHUMG00000162051 NR_104606 HGNC:53079 +HGNC:53080 LINC02213 long intergenic non-protein coding RNA 2213 non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 Long intergenic non-protein coding RNAs 1986 2017-02-03 2017-02-03 389273 ENSG00000249160 OTTHUMG00000162049 NR_134289 HGNC:53080 +HGNC:53081 LINC02214 long intergenic non-protein coding RNA 2214 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Long intergenic non-protein coding RNAs 1986 2017-02-03 2017-02-03 102467223 ENSG00000251311 OTTHUMG00000162883 NR_104678 HGNC:53081 +HGNC:53082 LINC02215 long intergenic non-protein coding RNA 2215 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Long intergenic non-protein coding RNAs 1986 2017-02-03 2017-02-03 102467225 ENSG00000249128 OTTHUMG00000162955 NR_104998 HGNC:53082 +HGNC:53083 LINC02216 long intergenic non-protein coding RNA 2216 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Long intergenic non-protein coding RNAs 1986 2017-02-03 2017-02-03 105379141 ENSG00000249551 OTTHUMG00000162954 XR_002956253 HGNC:53083 +HGNC:53084 LINC02217 long intergenic non-protein coding RNA 2217 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 Long intergenic non-protein coding RNAs 1986 2017-02-03 2017-02-03 101929544 ENSG00000248455 OTTHUMG00000161871 NR_134274 HGNC:53084 +HGNC:53085 LINC02218 long intergenic non-protein coding RNA 2218 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 Long intergenic non-protein coding RNAs 1986 2017-02-03 2017-02-03 102723526 ENSG00000249662 OTTHUMG00000161869 NR_134270 HGNC:53085 +HGNC:53086 LINC02219 long intergenic non-protein coding RNA 2219 non-coding RNA RNA, long non-coding Approved 5q13.1 05q13.1 Long intergenic non-protein coding RNAs 1986 2017-02-03 2017-02-03 102467655 ENSG00000253787 OTTHUMG00000164191 NR_105003 HGNC:53086 +HGNC:53087 LINC02220 long intergenic non-protein coding RNA 2220 non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 Long intergenic non-protein coding RNAs 1986 2017-02-03 2017-02-03 105374658 ENSG00000248457 OTTHUMG00000161742 NR_147005 HGNC:53087 +HGNC:53090 LINC02221 long intergenic non-protein coding RNA 2221 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 Long intergenic non-protein coding RNAs 1986 2017-02-08 2017-02-08 105374648 ENSG00000250814 OTTHUMG00000161686 NR_147004 HGNC:53090 +HGNC:53091 LINC02222 long intergenic non-protein coding RNA 2222 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Long intergenic non-protein coding RNAs 1986 2017-02-08 2017-02-08 105377765 ENSG00000248717 OTTHUMG00000163295 NR_146728 HGNC:53091 +HGNC:53092 LINC02223 long intergenic non-protein coding RNA 2223 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 Long intergenic non-protein coding RNAs 1986 2017-02-08 2017-02-08 646241 ENSG00000249937 OTTHUMG00000161859 NR_134286 HGNC:53092 +HGNC:53093 LINC02224 long intergenic non-protein coding RNA 2224 non-coding RNA RNA, long non-coding Approved 5p12 05p12 "BRCAT107|ENST00000505706" breast cancer-associated transcript 107 Long intergenic non-protein coding RNAs 1986 2017-02-08 2017-02-09 102723839 ENSG00000249203 OTTHUMG00000162229 NR_131946 "25599403|28125665" HGNC:53093 +HGNC:53094 LINC02225 long intergenic non-protein coding RNA 2225 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Long intergenic non-protein coding RNAs 1986 2017-02-08 2017-02-08 101928539 ENSG00000249584 OTTHUMG00000162198 NR_109900 HGNC:53094 +HGNC:53095 LINC02226 long intergenic non-protein coding RNA 2226 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 Long intergenic non-protein coding RNAs 1986 2017-02-08 2017-02-08 729506 ENSG00000245729 OTTHUMG00000161709 NR_039984 HGNC:53095 +HGNC:53096 LINC02227 long intergenic non-protein coding RNA 2227 non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 Long intergenic non-protein coding RNAs 1986 2017-02-08 2017-02-08 101927697 ENSG00000276778 OTTHUMG00000186522 NR_109888 HGNC:53096 +HGNC:53097 LINC02228 long intergenic non-protein coding RNA 2228 non-coding RNA RNA, long non-coding Approved 5p14.1 05p14.1 Long intergenic non-protein coding RNAs 1986 2017-02-08 2017-02-08 105374694 ENSG00000251273 OTTHUMG00000161956 NR_147006 HGNC:53097 +HGNC:53098 LINC02229 long intergenic non-protein coding RNA 2229 non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 Long intergenic non-protein coding RNAs 1986 2017-02-08 2017-02-08 101928769 ENSG00000250313 OTTHUMG00000162359 NR_105001 HGNC:53098 +HGNC:53099 LINC02230 long intergenic non-protein coding RNA 2230 non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 Long intergenic non-protein coding RNAs 1986 2017-02-08 2017-02-08 105379033 ENSG00000251543 OTTHUMG00000162497 NR_146627 HGNC:53099 +HGNC:53100 LINC02231 long intergenic non-protein coding RNA 2231 non-coding RNA RNA, long non-coding Approved 12q14.3 12q14.3 RP11-766N7.4 Long intergenic non-protein coding RNAs 1986 2017-02-09 2017-02-16 109729131 ENSG00000248995 OTTHUMG00000168830 NR_146276 28157654 HGNC:53100 +HGNC:53103 LINC02232 long intergenic non-protein coding RNA 2232 non-coding RNA RNA, long non-coding Approved 4q13.1 04q13.1 RP11-707A18.1 Long intergenic non-protein coding RNAs 1986 2017-02-09 2017-02-09 401134 ENSG00000250125 OTTHUMG00000160703 NR_033976 28128360 HGNC:53103 +HGNC:53104 LINC02233 long intergenic non-protein coding RNA 2233 non-coding RNA RNA, long non-coding Approved 4q32.1 04q32.1 RP11-6C14.1 Long intergenic non-protein coding RNAs 1986 2017-02-09 2017-03-22 109729132 ENSG00000250488 OTTHUMG00000161434 NR_146278 28128360 HGNC:53104 +HGNC:53105 LINC02234 long intergenic non-protein coding RNA 2234 non-coding RNA RNA, long non-coding Approved 5q15 05q15 RP11-455B3.1 Long intergenic non-protein coding RNAs 1986 2017-02-09 2017-02-09 109729164 ENSG00000248202 OTTHUMG00000162710 NR_146299 28128360 HGNC:53105 +HGNC:53106 LINC02235 long intergenic non-protein coding RNA 2235 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 RP11-354A14.1 Long intergenic non-protein coding RNAs 1986 2017-02-09 2017-02-09 109729147 ENSG00000254689 OTTHUMG00000165230 NR_170312 28128360 +HGNC:53107 LINC02236 long intergenic non-protein coding RNA 2236 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 RP11-332J15.1 Long intergenic non-protein coding RNAs 1986 2017-02-09 2020-01-06 109729133 ENSG00000251365 OTTHUMG00000161704 NR_146281 28128360 HGNC:53107 +HGNC:53108 LINC02237 long intergenic non-protein coding RNA 2237 non-coding RNA RNA, long non-coding Approved 8q23.3 08q23.3 RP11-1101K5.1 Long intergenic non-protein coding RNAs 1986 2017-02-09 2017-03-22 105375706 ENSG00000253434 OTTHUMG00000164883 NR_146282 28128360 HGNC:53108 +HGNC:53116 LINC02238 long intergenic non-protein coding RNA 2238 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 RP4-788P17.1 Long intergenic non-protein coding RNAs 1986 2017-02-10 2017-02-10 109729166 ENSG00000223479 OTTHUMG00000009567 NR_146300 28103885 HGNC:53116 +HGNC:27969 LINC02239 long intergenic non-protein coding RNA 2239 non-coding RNA RNA, long non-coding Approved 5p14.1 05p14.1 Long intergenic non-protein coding RNAs 1986 2017-02-10 2017-02-10 340107 ENSG00000248908 OTTHUMG00000161889 NR_037896 HGNC:27969 +HGNC:53118 LINC02240 long intergenic non-protein coding RNA 2240 non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Long intergenic non-protein coding RNAs 1986 2017-02-10 2017-02-10 101927460 ENSG00000260192 OTTHUMG00000163260 NR_109887 HGNC:53118 +HGNC:53126 LINC02241 long intergenic non-protein coding RNA 2241 non-coding RNA RNA, long non-coding Approved 5p14.3 05p14.3 Long intergenic non-protein coding RNAs 1986 2017-02-15 2017-02-15 105374676 ENSG00000251629 OTTHUMG00000162067 NR_149120 HGNC:53126 +HGNC:53127 LINC02242 long intergenic non-protein coding RNA 2242 non-coding RNA RNA, long non-coding Approved 5q13.1 05q13.1 Long intergenic non-protein coding RNAs 1986 2017-02-15 2017-02-15 105379006 ENSG00000249736 OTTHUMG00000162355 NR_147169 HGNC:53127 +HGNC:53129 LINC02243 long intergenic non-protein coding RNA 2243 non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 ENST00000441841 Long intergenic non-protein coding RNAs 1986 2017-02-16 2017-02-16 340581 ENSG00000236091 OTTHUMG00000022462 NR_134925 28076325 HGNC:53129 +HGNC:53929 LINC02244 long intergenic non-protein coding RNA 2244 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 RP11-20G13.3 Long intergenic non-protein coding RNAs 1986 2018-06-27 2019-11-22 105371018 ENSG00000259590 OTTHUMG00000171948 XR_007064774 29884798 HGNC:53929 +HGNC:53134 LINC02245 long intergenic non-protein coding RNA 2245 non-coding RNA RNA, long non-coding Approved 2p14 02p14 "lnc-SERTAD2-3|AC007386.2" Long intergenic non-protein coding RNAs 1986 2017-02-16 2017-08-30 400958 ENSG00000237638 OTTHUMG00000152704 NR_036586 "27827314|28839111" HGNC:53134 +HGNC:53135 LINC02246 long intergenic non-protein coding RNA 2246 non-coding RNA RNA, long non-coding Approved 21q11.2 21q11.2 ENST00000418954 Long intergenic non-protein coding RNAs 1986 2017-02-16 2017-02-16 107987295 ENSG00000281903 OTTHUMG00000074322 NR_146322 27816668 HGNC:53135 +HGNC:53140 LINC02247 long intergenic non-protein coding RNA 2247 non-coding RNA RNA, long non-coding Approved 9q34.2 09q34.2 ENST00000417135 Long intergenic non-protein coding RNAs 1986 2017-02-16 2017-02-16 105376310 ENSG00000223729 OTTHUMG00000020883 NR_146518 27816668 HGNC:53140 +HGNC:53147 LINC02248 long intergenic non-protein coding RNA 2248 non-coding RNA RNA, long non-coding Approved 15q12 15q12 Long intergenic non-protein coding RNAs 1986 2017-02-17 2017-02-17 107984780 ENSG00000235160 OTTHUMG00000056666 XR_001751449 HGNC:53147 +HGNC:32351 LINC02249 long intergenic non-protein coding RNA 2249 non-coding RNA RNA, long non-coding Approved 15q13.2 15q13.2 DKFZp434L187 Long intergenic non-protein coding RNAs 1986 2017-02-17 2017-02-17 26082 ENSG00000225930 OTTHUMG00000175642 BC033224 NR_026771 HGNC:32351 +HGNC:53148 LINC02250 long intergenic non-protein coding RNA 2250 non-coding RNA RNA, long non-coding Approved 15q11.2-q12 15q11.2-q12 TCONS_00023273 Long intergenic non-protein coding RNAs 1986 2017-02-17 2017-02-17 105370737 ENSG00000235731 OTTHUMG00000056663 XR_007064542 HGNC:53148 +HGNC:53149 LINC02251 long intergenic non-protein coding RNA 2251 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Long intergenic non-protein coding RNAs 1986 2017-02-17 2017-02-17 105371008 ENSG00000258483 OTTHUMG00000171822 NR_146563 HGNC:53149 +HGNC:53150 LINC02252 long intergenic non-protein coding RNA 2252 non-coding RNA RNA, long non-coding Approved 15q14 15q14 Long intergenic non-protein coding RNAs 1986 2017-02-17 2017-02-17 105370762 ENSG00000261304 OTTHUMG00000173391 NR_146869 HGNC:53150 +HGNC:53151 LINC02253 long intergenic non-protein coding RNA 2253 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 Long intergenic non-protein coding RNAs 1986 2017-02-22 2017-03-22 107984764 ENSG00000259485 OTTHUMG00000172035 XR_001751694 HGNC:53151 +HGNC:53152 LINC02254 long intergenic non-protein coding RNA 2254 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 Long intergenic non-protein coding RNAs 1986 2017-02-22 2017-02-22 101927286 ENSG00000259664 OTTHUMG00000172036 NR_120324 HGNC:53152 +HGNC:53153 LINC02255 long intergenic non-protein coding RNA 2255 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 Long intergenic non-protein coding RNAs 1986 2017-02-22 2017-02-22 105370894 ENSG00000277718 OTTHUMG00000186954 NR_146881 HGNC:53153 +HGNC:53157 LINC02256 long intergenic non-protein coding RNA 2256 non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 Long intergenic non-protein coding RNAs 1986 2017-02-22 2017-03-22 100996255 ENSG00000261064 OTTHUMG00000175400 NR_102756 HGNC:53157 +HGNC:53159 LINC02257 long intergenic non-protein coding RNA 2257 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Long intergenic non-protein coding RNAs 1986 2017-03-03 2017-03-03 105372950 ENSG00000238042 OTTHUMG00000037423 NR_149057 HGNC:53159 +HGNC:53165 LINC02258 long intergenic non-protein coding RNA 2258 non-coding RNA RNA, long non-coding Approved 12q21.32 12q21.32 RP11-248E9.5 Long intergenic non-protein coding RNAs 1986 2017-03-03 2017-03-03 110806294 ENSG00000257912 OTTHUMG00000169866 NR_149056 27663962 HGNC:53165 +HGNC:53172 LINC02259 long intergenic non-protein coding RNA 2259 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 Long intergenic non-protein coding RNAs 1986 2017-03-17 2017-03-17 102723640 ENSG00000259783 OTTHUMG00000173096 NR_135684 HGNC:53172 +HGNC:27956 LINC02260 long intergenic non-protein coding RNA 2260 non-coding RNA RNA, long non-coding Approved 4q12 04q12 Long intergenic non-protein coding RNAs 1986 2017-03-20 2017-03-20 339978 ENSG00000250456 OTTHUMG00000161130 NR_134657 12477932 HGNC:27956 +HGNC:53173 LINC02261 long intergenic non-protein coding RNA 2261 non-coding RNA RNA, long non-coding Approved 4p15.2 04p15.2 Long intergenic non-protein coding RNAs 1986 2017-03-20 2017-03-20 101929199 ENSG00000249699 OTTHUMG00000161689 NR_125921 HGNC:53173 +HGNC:53174 LINC02262 long intergenic non-protein coding RNA 2262 non-coding RNA RNA, long non-coding Approved 4q26 04q26 Long intergenic non-protein coding RNAs 1986 2017-03-20 2017-03-20 105377389 ENSG00000224932 OTTHUMG00000059449 NR_147151 HGNC:53174 +HGNC:53175 LINC02263 long intergenic non-protein coding RNA 2263 non-coding RNA RNA, long non-coding Approved 4q26 04q26 Long intergenic non-protein coding RNAs 1986 2017-03-20 2017-03-20 105377390 ENSG00000228358 OTTHUMG00000059445 NR_147152 HGNC:53175 +HGNC:53176 LINC02264 long intergenic non-protein coding RNA 2264 non-coding RNA RNA, long non-coding Approved 4q26 04q26 Long intergenic non-protein coding RNAs 1986 2017-03-20 2017-09-21 105377391 ENSG00000229565 OTTHUMG00000059447 NR_147154 28900495 HGNC:53176 +HGNC:53179 LINC02265 long intergenic non-protein coding RNA 2265 non-coding RNA RNA, long non-coding Approved 4p14 04p14 Long intergenic non-protein coding RNAs 1986 2017-03-20 2017-03-20 101060498 ENSG00000249241 OTTHUMG00000160407 NR_121640 HGNC:53179 +HGNC:53180 LINC02266 long intergenic non-protein coding RNA 2266 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105377466 ENSG00000272727 OTTHUMG00000186407 NR_147156 HGNC:53180 +HGNC:53181 LINC02267 long intergenic non-protein coding RNA 2267 non-coding RNA RNA, long non-coding Approved 4q22.3 04q22.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105377338 ENSG00000248510 OTTHUMG00000161181 NR_147149 HGNC:53181 +HGNC:53183 LINC02268 long intergenic non-protein coding RNA 2268 non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101928509 ENSG00000248174 OTTHUMG00000160745 NR_125896 HGNC:53183 +HGNC:53184 LINC02269 long intergenic non-protein coding RNA 2269 non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101928478 ENSG00000250708 OTTHUMG00000160736 NR_146487 HGNC:53184 +HGNC:53185 LINC02270 long intergenic non-protein coding RNA 2270 non-coding RNA RNA, long non-coding Approved 4p15.33 04p15.33 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101929019 ENSG00000251210 OTTHUMG00000160074 NR_125910 HGNC:53185 +HGNC:53186 LINC02271 long intergenic non-protein coding RNA 2271 non-coding RNA RNA, long non-coding Approved 4q13.1 04q13.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105377249 ENSG00000240152 OTTHUMG00000160657 NR_147148 HGNC:53186 +HGNC:53187 LINC02272 long intergenic non-protein coding RNA 2272 non-coding RNA RNA, long non-coding Approved 4q32.1 04q32.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 107986322 ENSG00000251283 OTTHUMG00000161775 XR_001741902 HGNC:53187 +HGNC:53188 LINC02273 long intergenic non-protein coding RNA 2273 non-coding RNA RNA, long non-coding Approved 4q31.3 04q31.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 100996286 ENSG00000245954 OTTHUMG00000161715 NR_121628 HGNC:53188 +HGNC:53190 LINC02274 long intergenic non-protein coding RNA 2274 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 100506498 ENSG00000258586 OTTHUMG00000171254 NR_135238 HGNC:53190 +HGNC:53191 LINC02275 long intergenic non-protein coding RNA 2275 non-coding RNA RNA, long non-coding Approved 4q33 04q33 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 100506085 ENSG00000248319 OTTHUMG00000160949 NR_037878 HGNC:53191 +HGNC:53192 LINC02276 long intergenic non-protein coding RNA 2276 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105377456 ENSG00000250141 OTTHUMG00000161339 XR_939260 HGNC:53192 +HGNC:53193 LINC02277 long intergenic non-protein coding RNA 2277 non-coding RNA RNA, long non-coding Approved 14q21.2 14q21.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 107984027 ENSG00000258487 OTTHUMG00000170687 XR_001750743 HGNC:53193 +HGNC:53194 LINC02278 long intergenic non-protein coding RNA 2278 non-coding RNA RNA, long non-coding Approved 4p14 04p14 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105374411 ENSG00000251635 OTTHUMG00000160485 NR_146991 HGNC:53194 +HGNC:53195 LINC02279 long intergenic non-protein coding RNA 2279 non-coding RNA RNA, long non-coding Approved 14q32.13 14q32.13 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 107984637 ENSG00000258933 OTTHUMG00000171626 XR_001750936 HGNC:53195 +HGNC:53196 LINC02280 long intergenic non-protein coding RNA 2280 non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101929634 ENSG00000260792 OTTHUMG00000173007 NR_135293 HGNC:53196 +HGNC:53197 LINC02281 long intergenic non-protein coding RNA 2281 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370423 ENSG00000257748 OTTHUMG00000170360 XR_943667 HGNC:53197 +HGNC:53199 LINC02282 long intergenic non-protein coding RNA 2282 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370424 ENSG00000257056 OTTHUMG00000170346 NR_135255 HGNC:53199 +HGNC:53200 LINC02283 long intergenic non-protein coding RNA 2283 non-coding RNA RNA, long non-coding Approved 4q12 04q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105377656 ENSG00000248184 OTTHUMG00000160645 NR_147160 HGNC:53200 +HGNC:53201 LINC02284 long intergenic non-protein coding RNA 2284 non-coding RNA RNA, long non-coding Approved 14q22.3 14q22.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 102723699 ENSG00000259719 OTTHUMG00000172127 XR_001750778 HGNC:53201 +HGNC:53202 LINC02285 long intergenic non-protein coding RNA 2285 non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101929422 ENSG00000259004 OTTHUMG00000171672 NR_146490 HGNC:53202 +HGNC:53203 LINC02286 long intergenic non-protein coding RNA 2286 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370414 ENSG00000258098 OTTHUMG00000170437 XR_007064380 HGNC:53203 +HGNC:53204 LINC02287 long intergenic non-protein coding RNA 2287 non-coding RNA RNA, long non-coding Approved 14q32.12 14q32.12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101929002 ENSG00000258499 OTTHUMG00000171224 NR_135253 HGNC:53204 +HGNC:27505 LINC02288 long intergenic non-protein coding RNA 2288 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 283575 ENSG00000246548 OTTHUMG00000171579 NR_110554 HGNC:27505 +HGNC:53205 LINC02289 long intergenic non-protein coding RNA 2289 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 102724190 ENSG00000258819 OTTHUMG00000171581 NR_110553 HGNC:53205 +HGNC:53206 LINC02290 long intergenic non-protein coding RNA 2290 non-coding RNA RNA, long non-coding Approved 14q23.3 14q23.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370540 ENSG00000258502 OTTHUMG00000171178 XR_001750987 HGNC:53206 +HGNC:53207 LINC02291 long intergenic non-protein coding RNA 2291 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 100129345 ENSG00000197176 OTTHUMG00000171466 NR_033943 HGNC:53207 +HGNC:53208 LINC02292 long intergenic non-protein coding RNA 2292 non-coding RNA RNA, long non-coding Approved 14q32.13 14q32.13 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101929080 ENSG00000258630 OTTHUMG00000171631 NR_110127 HGNC:53208 +HGNC:53209 LINC02293 long intergenic non-protein coding RNA 2293 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 102724890 ENSG00000257185 OTTHUMG00000170416 NR_110556 HGNC:53209 +HGNC:53210 LINC02294 long intergenic non-protein coding RNA 2294 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101927062 ENSG00000257845 OTTHUMG00000170331 NR_110033 HGNC:53210 +HGNC:53211 LINC02295 long intergenic non-protein coding RNA 2295 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370652 ENSG00000258511 OTTHUMG00000171472 XR_944187 HGNC:53211 +HGNC:53212 LINC02296 long intergenic non-protein coding RNA 2296 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370610 ENSG00000258859 OTTHUMG00000171354 XR_007064293 HGNC:53212 +HGNC:53214 LINC02297 long intergenic non-protein coding RNA 2297 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 642426 ENSG00000257504 OTTHUMG00000170300 NR_046104 HGNC:53214 +HGNC:53216 LINC02298 long intergenic non-protein coding RNA 2298 non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 102723354 ENSG00000257556 OTTHUMG00000170462 NR_110546 HGNC:53216 +HGNC:53218 LINC02299 long intergenic non-protein coding RNA 2299 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370646 ENSG00000258979 OTTHUMG00000171455 NR_146552 HGNC:53218 +HGNC:53219 LINC02300 long intergenic non-protein coding RNA 2300 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370422 ENSG00000258175 OTTHUMG00000170383 XR_001750690 HGNC:53219 +HGNC:53220 LINC02301 long intergenic non-protein coding RNA 2301 non-coding RNA RNA, long non-coding Approved 14q31.1 14q31.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-05-15 101928599 ENSG00000258743 OTTHUMG00000171387 NR_146650 HGNC:53220 +HGNC:53221 LINC02302 long intergenic non-protein coding RNA 2302 non-coding RNA RNA, long non-coding Approved 14q21.2 14q21.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101927351 ENSG00000258998 OTTHUMG00000170717 NR_146457 HGNC:53221 +HGNC:53222 LINC02303 long intergenic non-protein coding RNA 2303 non-coding RNA RNA, long non-coding Approved 14q21.2 14q21.2 TRMP TP53-regulated modulator of p27 Long intergenic non-protein coding RNAs 1986 2017-03-21 2019-07-12 105370479 ENSG00000258616 OTTHUMG00000170731 NR_146546 30166522 HGNC:53222 +HGNC:53223 LINC02304 long intergenic non-protein coding RNA 2304 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370648 ENSG00000259110 OTTHUMG00000171464 NR_146554 HGNC:53223 +HGNC:53224 LINC02305 long intergenic non-protein coding RNA 2305 non-coding RNA RNA, long non-coding Approved 14q31.2 14q31.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 102724338 ENSG00000258532 OTTHUMG00000171383 XR_007064376 HGNC:53224 +HGNC:53225 LINC02306 long intergenic non-protein coding RNA 2306 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 107984700 ENSG00000257986 OTTHUMG00000170315 XR_001750924 HGNC:53225 +HGNC:53226 LINC02307 long intergenic non-protein coding RNA 2307 non-coding RNA RNA, long non-coding Approved 14q21.2 14q21.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370471 ENSG00000258969 OTTHUMG00000170682 XR_943799 HGNC:53226 +HGNC:53227 LINC02308 long intergenic non-protein coding RNA 2308 non-coding RNA RNA, long non-coding Approved 14q31.1 14q31.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 100506700 ENSG00000258675 OTTHUMG00000171418 NR_109999 HGNC:53227 +HGNC:53228 LINC02309 long intergenic non-protein coding RNA 2309 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370607 ENSG00000258994 OTTHUMG00000171356 XR_944113 HGNC:53228 +HGNC:53229 LINC02310 long intergenic non-protein coding RNA 2310 non-coding RNA RNA, long non-coding Approved 14q22.1 14q22.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370496 ENSG00000258808 OTTHUMG00000171074 NR_146549 HGNC:53229 +HGNC:53230 LINC02311 long intergenic non-protein coding RNA 2311 non-coding RNA RNA, long non-coding Approved 14q31.1 14q31.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 102724294 ENSG00000258718 OTTHUMG00000171400 NR_146498 HGNC:53230 +HGNC:53231 LINC02312 long intergenic non-protein coding RNA 2312 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 100132612 ENSG00000258869 OTTHUMG00000171468 NR_146447 HGNC:53231 +HGNC:53232 LINC02313 long intergenic non-protein coding RNA 2313 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370439 ENSG00000258474 OTTHUMG00000170586 NR_146544 HGNC:53232 +HGNC:53233 LINC02314 long intergenic non-protein coding RNA 2314 non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 100507277 ENSG00000259082 OTTHUMG00000171680 NR_135240 HGNC:53233 +HGNC:53234 LINC02315 long intergenic non-protein coding RNA 2315 non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 644919 ENSG00000251363 OTTHUMG00000170679 NR_109757 HGNC:53234 +HGNC:53235 LINC02316 long intergenic non-protein coding RNA 2316 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 102724380 ENSG00000258912 OTTHUMG00000171374 XR_007064388 HGNC:53235 +HGNC:53236 LINC02317 long intergenic non-protein coding RNA 2317 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101930294 ENSG00000258678 OTTHUMG00000171046 NR_146492 HGNC:53236 +HGNC:53237 LINC02318 long intergenic non-protein coding RNA 2318 non-coding RNA RNA, long non-coding Approved 14q32.13 14q32.13 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 100506999 ENSG00000258390 OTTHUMG00000171638 NR_146449 HGNC:53237 +HGNC:53238 LINC02319 long intergenic non-protein coding RNA 2319 non-coding RNA RNA, long non-coding Approved 14q22.1 14q22.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370498 ENSG00000258694 OTTHUMG00000171087 XR_001750766 HGNC:53238 +HGNC:53239 LINC02320 long intergenic non-protein coding RNA 2320 non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370676 ENSG00000258404 OTTHUMG00000171691 XR_007064345 HGNC:53239 +HGNC:53240 LINC02321 long intergenic non-protein coding RNA 2321 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370623 ENSG00000258884 OTTHUMG00000171053 XR_944145 HGNC:53240 +HGNC:53241 LINC02322 long intergenic non-protein coding RNA 2322 non-coding RNA RNA, long non-coding Approved 14q23.1 14q23.1 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101927729 ENSG00000258556 OTTHUMG00000171137 NR_146481 HGNC:53241 +HGNC:53242 LINC02323 long intergenic non-protein coding RNA 2323 non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370681 ENSG00000259230 OTTHUMG00000171913 NR_146561 HGNC:53242 +HGNC:53244 LINC02324 long intergenic non-protein coding RNA 2324 non-coding RNA RNA, long non-coding Approved 14q23.3 14q23.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 100128233 ENSG00000255002 OTTHUMG00000166151 NR_103769 HGNC:53244 +HGNC:53245 LINC02325 long intergenic non-protein coding RNA 2325 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101929241 ENSG00000246084 OTTHUMG00000171465 NR_110165 HGNC:53245 +HGNC:53246 LINC02326 long intergenic non-protein coding RNA 2326 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370425 ENSG00000257523 OTTHUMG00000170371 XR_001750704 HGNC:53246 +HGNC:53247 LINC02327 long intergenic non-protein coding RNA 2327 non-coding RNA RNA, long non-coding Approved 14q12 14q12 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 102724917 ENSG00000258038 OTTHUMG00000170368 XR_001750693 HGNC:53247 +HGNC:53248 LINC02328 long intergenic non-protein coding RNA 2328 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 101928767 ENSG00000258733 OTTHUMG00000171373 NR_110155 HGNC:53248 +HGNC:53249 LINC02329 long intergenic non-protein coding RNA 2329 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370605 ENSG00000258814 OTTHUMG00000171368 NR_135155 HGNC:53249 +HGNC:53250 LINC02330 long intergenic non-protein coding RNA 2330 non-coding RNA RNA, long non-coding Approved 14q31.3 14q31.3 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370611 ENSG00000258770 OTTHUMG00000171350 NR_146551 HGNC:53250 +HGNC:53251 LINC02331 long intergenic non-protein coding RNA 2331 non-coding RNA RNA, long non-coding Approved 14q22.2 14q22.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370503 ENSG00000235269 OTTHUMG00000150105 XR_001750968 HGNC:53251 +HGNC:53252 LINC02332 long intergenic non-protein coding RNA 2332 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Long intergenic non-protein coding RNAs 1986 2017-03-21 2017-03-21 105370400 ENSG00000259054 OTTHUMG00000170967 NR_146543 HGNC:53252 +HGNC:53253 LINC02333 long intergenic non-protein coding RNA 2333 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 103191607 ENSG00000271564 OTTHUMG00000184174 NR_120400 HGNC:53253 +HGNC:53254 LINC02334 long intergenic non-protein coding RNA 2334 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101929077 ENSG00000274317 OTTHUMG00000187340 XR_941877 HGNC:53254 +HGNC:53255 LINC02335 long intergenic non-protein coding RNA 2335 non-coding RNA RNA, long non-coding Approved 13q21.1 13q21.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 107984565 ENSG00000278630 OTTHUMG00000187313 HGNC:53255 +HGNC:53256 LINC02336 long intergenic non-protein coding RNA 2336 non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105370309 ENSG00000271395 OTTHUMG00000184176 XR_007063933 HGNC:53256 +HGNC:53257 LINC02337 long intergenic non-protein coding RNA 2337 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105370369 ENSG00000215881 OTTHUMG00000017359 NR_135814 HGNC:53257 +HGNC:53258 LINC02338 long intergenic non-protein coding RNA 2338 non-coding RNA RNA, long non-coding Approved 13q21.1 13q21.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101926897 ENSG00000277448 OTTHUMG00000187310 NR_120416 HGNC:53258 +HGNC:53259 LINC02339 long intergenic non-protein coding RNA 2339 non-coding RNA RNA, long non-coding Approved 13q21.2 13q21.2 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101926951 ENSG00000279797 OTTHUMG00000189119 NR_134946 HGNC:53259 +HGNC:53260 LINC02340 long intergenic non-protein coding RNA 2340 non-coding RNA RNA, long non-coding Approved 13q12.13-q12.2 13q12.13-q12.2 Long intergenic non-protein coding RNAs 1986 2017-03-22 2018-02-13 105370125 ENSG00000275294 OTTHUMG00000187177 HGNC:53260 +HGNC:53261 LINC02341 long intergenic non-protein coding RNA 2341 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105370177 ENSG00000283554 OTTHUMG00000191682 NR_135319 HGNC:53261 +HGNC:53262 LINC02342 long intergenic non-protein coding RNA 2342 non-coding RNA RNA, long non-coding Approved 13q21.33 13q21.33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105370253 ENSG00000280580 OTTHUMG00000189545 XR_942053 HGNC:53262 +HGNC:53263 LINC02343 long intergenic non-protein coding RNA 2343 non-coding RNA RNA, long non-coding Approved 13q13.2 13q13.2 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105370158 ENSG00000271850 OTTHUMG00000185756 NR_146542 HGNC:53263 +HGNC:53264 LINC02344 long intergenic non-protein coding RNA 2344 non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105370154 ENSG00000227911 OTTHUMG00000016711 NR_146541 HGNC:53264 +HGNC:53267 LINC02345 long intergenic non-protein coding RNA 2345 non-coding RNA RNA, long non-coding Approved 15q14 15q14 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101928227 ENSG00000259225 OTTHUMG00000172364 NR_120330 HGNC:53267 +HGNC:53268 LINC02346 long intergenic non-protein coding RNA 2346 non-coding RNA RNA, long non-coding Approved 15q12 15q12 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 100128714 ENSG00000206187 OTTHUMG00000171719 NR_040082 HGNC:53268 +HGNC:53269 LINC02347 long intergenic non-protein coding RNA 2347 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 100128554 ENSG00000214043 OTTHUMG00000168469 NR_130748 HGNC:53269 +HGNC:53270 LINC02348 long intergenic non-protein coding RNA 2348 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927505 ENSG00000273585 OTTHUMG00000187044 NR_147041 HGNC:53270 +HGNC:53271 LINC02349 long intergenic non-protein coding RNA 2349 non-coding RNA RNA, long non-coding Approved 15q22.2 15q22.2 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 100506530 ENSG00000259284 OTTHUMG00000171940 NR_146448 HGNC:53271 +HGNC:53272 LINC02350 long intergenic non-protein coding RNA 2350 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105370059 ENSG00000256927 OTTHUMG00000168468 NR_146291 HGNC:53272 +HGNC:53273 LINC02351 long intergenic non-protein coding RNA 2351 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105371011 ENSG00000277987 OTTHUMG00000187038 NR_146566 HGNC:53273 +HGNC:53274 LINC02352 long intergenic non-protein coding RNA 2352 non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 102725022 ENSG00000259448 OTTHUMG00000172222 NR_135834 HGNC:53274 +HGNC:53275 LINC02353 long intergenic non-protein coding RNA 2353 non-coding RNA RNA, long non-coding Approved 4p15.1 04p15.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927363 ENSG00000251329 OTTHUMG00000160346 NR_134672 HGNC:53275 +HGNC:53276 LINC02354 long intergenic non-protein coding RNA 2354 non-coding RNA RNA, long non-coding Approved 12q13.11 12q13.11 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 107984503 ENSG00000257488 OTTHUMG00000169889 XR_001749114 HGNC:53276 +HGNC:53277 LINC02355 long intergenic non-protein coding RNA 2355 non-coding RNA RNA, long non-coding Approved 4q31.23 04q31.23 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927849 ENSG00000248210 OTTHUMG00000161393 NR_125887 HGNC:53277 +HGNC:53278 LINC02356 long intergenic non-protein coding RNA 2356 non-coding RNA RNA, long non-coding Approved 12q24.12 12q24.12 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369984 ENSG00000257595 OTTHUMG00000169548 XR_945342 HGNC:53278 +HGNC:53279 LINC02357 long intergenic non-protein coding RNA 2357 non-coding RNA RNA, long non-coding Approved 4p15.2 04p15.2 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105374540 ENSG00000283314 OTTHUMG00000191703 XR_001741634 HGNC:53279 +HGNC:53281 LINC02358 long intergenic non-protein coding RNA 2358 non-coding RNA RNA, long non-coding Approved 4q12 04q12 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 107986226 ENSG00000251256 OTTHUMG00000160614 XR_001741510 HGNC:53281 +HGNC:53280 LINC02359 long intergenic non-protein coding RNA 2359 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2018-08-17 101927464 ENSG00000284848 OTTHUMG00000168496 NR_110053 HGNC:53280 +HGNC:53282 LINC02360 long intergenic non-protein coding RNA 2360 non-coding RNA RNA, long non-coding Approved 4p15.33 04p15.33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105374484 ENSG00000248300 OTTHUMG00000160041 NR_146995 HGNC:53282 +HGNC:53283 LINC02361 long intergenic non-protein coding RNA 2361 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 100996246 ENSG00000256576 OTTHUMG00000168255 NR_146452 HGNC:53283 +HGNC:53284 LINC02362 long intergenic non-protein coding RNA 2362 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 102723766 ENSG00000249096 OTTHUMG00000160613 NR_125933 HGNC:53284 +HGNC:53286 LINC02363 long intergenic non-protein coding RNA 2363 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 728175 ENSG00000180712 OTTHUMG00000160616 NR_040108 HGNC:53286 +HGNC:53288 LINC02364 long intergenic non-protein coding RNA 2364 non-coding RNA RNA, long non-coding Approved 4p15.1 04p15.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 102723764 ENSG00000250190 OTTHUMG00000160395 NR_146499 HGNC:53288 +HGNC:53285 LINC02365 long intergenic non-protein coding RNA 2365 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 LVCAT8 liver cancer-associated transcript 8 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105377586 ENSG00000254233 OTTHUMG00000163540 NR_131967 25599403 HGNC:53285 +HGNC:53289 LINC02366 long intergenic non-protein coding RNA 2366 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101928162 ENSG00000256888 OTTHUMG00000168488 NR_120463 HGNC:53289 +HGNC:53290 LINC02367 long intergenic non-protein coding RNA 2367 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101930452 ENSG00000260423 OTTHUMG00000172909 NR_120479 HGNC:53290 +HGNC:53291 LINC02368 long intergenic non-protein coding RNA 2368 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927694 ENSG00000256659 OTTHUMG00000168429 NR_104648 HGNC:53291 +HGNC:53292 LINC02369 long intergenic non-protein coding RNA 2369 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 100996679 ENSG00000256551 OTTHUMG00000168428 NR_104647 HGNC:53292 +HGNC:27885 LINC02370 long intergenic non-protein coding RNA 2370 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 338797 ENSG00000230294 OTTHUMG00000168301 NR_103736 HGNC:27885 +HGNC:53293 LINC02371 long intergenic non-protein coding RNA 2371 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 107984539 ENSG00000274659 OTTHUMG00000187093 HGNC:53293 +HGNC:53294 LINC02372 long intergenic non-protein coding RNA 2372 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 440117 ENSG00000249873 OTTHUMG00000168453 NR_033970 HGNC:53294 +HGNC:53295 LINC02373 long intergenic non-protein coding RNA 2373 non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369822 ENSG00000257507 OTTHUMG00000169359 HGNC:53295 +HGNC:53296 LINC02374 long intergenic non-protein coding RNA 2374 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105377600 ENSG00000249747 OTTHUMG00000160312 NR_147159 HGNC:53296 +HGNC:53297 LINC02375 long intergenic non-protein coding RNA 2375 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927616 ENSG00000256362 OTTHUMG00000168445 NR_110057 HGNC:53297 +HGNC:53298 LINC02376 long intergenic non-protein coding RNA 2376 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105370065 ENSG00000256292 OTTHUMG00000168443 NR_146537 HGNC:53298 +HGNC:53300 LINC02377 long intergenic non-protein coding RNA 2377 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105377424 ENSG00000250102 OTTHUMG00000161095 XR_939198 HGNC:53300 +HGNC:53301 LINC02378 long intergenic non-protein coding RNA 2378 non-coding RNA RNA, long non-coding Approved 12p12.3 12p12.3 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369678 ENSG00000256994 OTTHUMG00000168808 NR_146522 HGNC:53301 +HGNC:53302 LINC02379 long intergenic non-protein coding RNA 2379 non-coding RNA RNA, long non-coding Approved 4q28.1 04q28.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927109 ENSG00000251649 OTTHUMG00000161146 XR_244710 HGNC:53302 +HGNC:53303 LINC02380 long intergenic non-protein coding RNA 2380 non-coding RNA RNA, long non-coding Approved 4q12 04q12 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101928851 ENSG00000248505 OTTHUMG00000160663 NR_125907 HGNC:53303 +HGNC:53304 LINC02381 long intergenic non-protein coding RNA 2381 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 LOC400043 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-09-21 400043 ENSG00000250742 OTTHUMG00000160035 NR_026656 28900495 HGNC:53304 +HGNC:53305 LINC02382 long intergenic non-protein coding RNA 2382 non-coding RNA RNA, long non-coding Approved 4q33 04q33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 100506107 ENSG00000250968 OTTHUMG00000160872 NR_134683 HGNC:53305 +HGNC:53306 LINC02383 long intergenic non-protein coding RNA 2383 non-coding RNA RNA, long non-coding Approved 4p13 04p13 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105374436 ENSG00000248143 OTTHUMG00000160455 NR_146993 HGNC:53306 +HGNC:53308 LINC02384 long intergenic non-protein coding RNA 2384 non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 100507195 ENSG00000251301 OTTHUMG00000169139 NR_120458 HGNC:53308 +HGNC:53309 LINC02385 long intergenic non-protein coding RNA 2385 non-coding RNA RNA, long non-coding Approved 12q23.3 12q23.3 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369948 ENSG00000257193 OTTHUMG00000170177 XR_945288 HGNC:53309 +HGNC:53312 LINC02386 long intergenic non-protein coding RNA 2386 non-coding RNA RNA, long non-coding Approved 12p11.22 12p11.22 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369717 ENSG00000257756 OTTHUMG00000169332 XR_007063555 HGNC:53312 +HGNC:53313 LINC02387 long intergenic non-protein coding RNA 2387 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101929027 ENSG00000256232 OTTHUMG00000169033 NR_146469 HGNC:53313 +HGNC:53315 LINC02388 long intergenic non-protein coding RNA 2388 non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927653 ENSG00000257259 OTTHUMG00000169964 NR_120452 HGNC:53315 +HGNC:53316 LINC02389 long intergenic non-protein coding RNA 2389 non-coding RNA RNA, long non-coding Approved 12q14.3 12q14.3 FLJ41278 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 400046 ENSG00000255693 OTTHUMG00000168829 NR_033988 HGNC:53316 +HGNC:53317 LINC02390 long intergenic non-protein coding RNA 2390 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369652 ENSG00000256582 OTTHUMG00000168371 XR_931347 HGNC:53317 +HGNC:53318 LINC02391 long intergenic non-protein coding RNA 2391 non-coding RNA RNA, long non-coding Approved 12q22 12q22 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101930023 ENSG00000277851 OTTHUMG00000187289 XR_007063403 HGNC:53318 +HGNC:53319 LINC02392 long intergenic non-protein coding RNA 2392 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369893 ENSG00000258183 OTTHUMG00000170044 NR_135018 HGNC:53319 +HGNC:53320 LINC02393 long intergenic non-protein coding RNA 2393 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 FLJ37505 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 400087 ENSG00000256597 OTTHUMG00000168424 NR_033987 HGNC:53320 +HGNC:53321 LINC02394 long intergenic non-protein coding RNA 2394 non-coding RNA RNA, long non-coding Approved 12q21.1 12q21.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369841 ENSG00000258332 OTTHUMG00000169689 XR_945095 HGNC:53321 +HGNC:53322 LINC02395 long intergenic non-protein coding RNA 2395 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927292 ENSG00000257771 OTTHUMG00000169708 NR_110048 HGNC:53322 +HGNC:27463 LINC02396 long intergenic non-protein coding RNA 2396 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-04-28 283332 ENSG00000258135 OTTHUMG00000169809 NR_026948 HGNC:27463 +HGNC:53323 LINC02397 long intergenic non-protein coding RNA 2397 non-coding RNA RNA, long non-coding Approved 12q22 12q22 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 100507616 ENSG00000205056 OTTHUMG00000181842 NR_144532 HGNC:53323 +HGNC:53325 LINC02398 long intergenic non-protein coding RNA 2398 non-coding RNA RNA, long non-coding Approved 12p12.2 12p12.2 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 100506393 ENSG00000256287 OTTHUMG00000168941 NR_040098 HGNC:53325 +HGNC:53326 LINC02399 long intergenic non-protein coding RNA 2399 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369891 ENSG00000257725 OTTHUMG00000169952 NR_135019 HGNC:53326 +HGNC:53327 LINC02400 long intergenic non-protein coding RNA 2400 non-coding RNA RNA, long non-coding Approved 12q12 12q12 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927038 ENSG00000257784 OTTHUMG00000169376 NR_135040 HGNC:53327 +HGNC:53328 LINC02401 long intergenic non-protein coding RNA 2401 non-coding RNA RNA, long non-coding Approved 12q23.3 12q23.3 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101929084 ENSG00000257762 OTTHUMG00000170055 NR_110103 HGNC:53328 +HGNC:53329 LINC02402 long intergenic non-protein coding RNA 2402 non-coding RNA RNA, long non-coding Approved 12q12 12q12 ENST00000550337.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-04-28 101927058 ENSG00000257510 OTTHUMG00000169457 NR_110042 28407663 HGNC:53329 +HGNC:53330 LINC02403 long intergenic non-protein coding RNA 2403 non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369785 ENSG00000257541 OTTHUMG00000170496 NR_135022 HGNC:53330 +HGNC:53331 LINC02404 long intergenic non-protein coding RNA 2404 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369900 ENSG00000257893 OTTHUMG00000170089 XR_945199 HGNC:53331 +HGNC:53333 LINC02405 long intergenic non-protein coding RNA 2405 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927592 ENSG00000249345 OTTHUMG00000168456 NR_104646 HGNC:53333 +HGNC:53334 LINC02406 long intergenic non-protein coding RNA 2406 non-coding RNA RNA, long non-coding Approved 12q12 12q12 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369730 ENSG00000258144 OTTHUMG00000169409 XR_944853 HGNC:53334 +HGNC:53337 LINC02408 long intergenic non-protein coding RNA 2408 non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 100507175 ENSG00000203585 OTTHUMG00000169069 NR_103861 HGNC:53337 +HGNC:53338 LINC02409 long intergenic non-protein coding RNA 2409 non-coding RNA RNA, long non-coding Approved 12q23.1 12q23.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369929 ENSG00000257920 OTTHUMG00000170123 XR_002957447 HGNC:53338 +HGNC:53339 LINC02410 long intergenic non-protein coding RNA 2410 non-coding RNA RNA, long non-coding Approved 12q23.1 12q23.1 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369920 ENSG00000258292 OTTHUMG00000170350 NR_135016 HGNC:53339 +HGNC:53340 LINC02411 long intergenic non-protein coding RNA 2411 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 101927637 ENSG00000256022 OTTHUMG00000168451 NR_120451 HGNC:53340 +HGNC:53341 LINC02412 long intergenic non-protein coding RNA 2412 non-coding RNA RNA, long non-coding Approved 12q22 12q22 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 102724933 ENSG00000258171 OTTHUMG00000170115 NR_120492 HGNC:53341 +HGNC:53342 LINC02413 long intergenic non-protein coding RNA 2413 non-coding RNA RNA, long non-coding Approved 12q22 12q22 Long intergenic non-protein coding RNAs 1986 2017-03-22 2017-03-22 105369906 ENSG00000257345 OTTHUMG00000170111 XR_945212 HGNC:53342 +HGNC:53343 LINC02414 long intergenic non-protein coding RNA 2414 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 105370085 ENSG00000256424 OTTHUMG00000168310 NR_146868 HGNC:53343 +HGNC:53344 LINC02415 long intergenic non-protein coding RNA 2415 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 107161159 ENSG00000248703 OTTHUMG00000168300 NR_135045 HGNC:53344 +HGNC:53345 LINC02416 long intergenic non-protein coding RNA 2416 non-coding RNA RNA, long non-coding Approved 12q13.11 12q13.11 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 107984528 ENSG00000257924 OTTHUMG00000169663 XR_001749106 HGNC:53345 +HGNC:53347 LINC02417 long intergenic non-protein coding RNA 2417 non-coding RNA RNA, long non-coding Approved 12p13.32 12p13.32 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 101930162 ENSG00000257048 OTTHUMG00000168183 NR_146865 HGNC:53347 +HGNC:53348 LINC02418 long intergenic non-protein coding RNA 2418 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Long intergenic non-protein coding RNAs 1986 2017-03-23 2019-08-08 100190940 ENSG00000214039 OTTHUMG00000168373 NR_024457 31358735 HGNC:53348 +HGNC:53349 LINC02419 long intergenic non-protein coding RNA 2419 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 105370078 ENSG00000256906 OTTHUMG00000168375 NR_146538 HGNC:53349 +HGNC:53350 LINC02420 long intergenic non-protein coding RNA 2420 non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 102724433 ENSG00000256172 OTTHUMG00000169068 NR_146500 HGNC:53350 +HGNC:53351 LINC02421 long intergenic non-protein coding RNA 2421 non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 101927901 ENSG00000255970 OTTHUMG00000169091 NR_110063 HGNC:53351 +HGNC:53352 LINC02422 long intergenic non-protein coding RNA 2422 non-coding RNA RNA, long non-coding Approved 12p11.21 12p11.21 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 105369723 ENSG00000255760 OTTHUMG00000169240 NR_135029 HGNC:53352 +HGNC:53353 LINC02423 long intergenic non-protein coding RNA 2423 non-coding RNA RNA, long non-coding Approved 12q24.23 12q24.23 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 105370014 ENSG00000256750 OTTHUMG00000168902 NR_134998 HGNC:53353 +HGNC:53354 LINC02424 long intergenic non-protein coding RNA 2424 non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 105369860 ENSG00000258220 OTTHUMG00000170004 NR_135021 HGNC:53354 +HGNC:53356 LINC02425 long intergenic non-protein coding RNA 2425 non-coding RNA RNA, long non-coding Approved 12q14.3 12q14.3 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 105369810 ENSG00000256259 OTTHUMG00000168958 NR_146530 HGNC:53356 +HGNC:53357 LINC02426 long intergenic non-protein coding RNA 2426 non-coding RNA RNA, long non-coding Approved 12q21.31 12q21.31 Long intergenic non-protein coding RNAs 1986 2017-03-23 2017-03-23 101928449 ENSG00000257747 OTTHUMG00000170249 NR_110089 HGNC:53357 +HGNC:53358 LINC02427 long intergenic non-protein coding RNA 2427 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 Long intergenic non-protein coding RNAs 1986 2017-03-24 2017-03-24 105377585 ENSG00000271538 OTTHUMG00000185265 NR_147158 HGNC:53358 +HGNC:53359 LINC02428 long intergenic non-protein coding RNA 2428 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Long intergenic non-protein coding RNAs 1986 2017-03-24 2017-03-24 101929448 ENSG00000248740 OTTHUMG00000160989 NR_125925 HGNC:53359 +HGNC:53360 LINC02429 long intergenic non-protein coding RNA 2429 non-coding RNA RNA, long non-coding Approved 4q13.1 04q13.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105377247 ENSG00000251266 OTTHUMG00000161247 NR_133941 HGNC:53360 +HGNC:53361 LINC02430 long intergenic non-protein coding RNA 2430 non-coding RNA RNA, long non-coding Approved 4q31.23 04q31.23 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 107986319 ENSG00000250252 OTTHUMG00000161390 XR_001741884 HGNC:53361 +HGNC:53362 LINC02431 long intergenic non-protein coding RNA 2431 non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 100506122 ENSG00000248872 OTTHUMG00000160875 NR_038838 HGNC:53362 +HGNC:53363 LINC02432 long intergenic non-protein coding RNA 2432 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 100507639 ENSG00000248810 OTTHUMG00000161381 NR_121625 HGNC:53363 +HGNC:27959 LINC02433 long intergenic non-protein coding RNA 2433 non-coding RNA RNA, long non-coding Approved 4q32.1 04q32.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 340017 ENSG00000234111 OTTHUMG00000161533 NR_026992 HGNC:27959 +HGNC:53365 LINC02434 long intergenic non-protein coding RNA 2434 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105377606 ENSG00000248370 OTTHUMG00000160236 XR_939617 HGNC:53365 +HGNC:53366 LINC02435 long intergenic non-protein coding RNA 2435 non-coding RNA RNA, long non-coding Approved 4q28.1 04q28.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 107986311 ENSG00000251526 OTTHUMG00000161297 XR_001741811 HGNC:53366 +HGNC:53368 LINC02436 long intergenic non-protein coding RNA 2436 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 101928877 ENSG00000250754 OTTHUMG00000160487 NR_147059 HGNC:53368 +HGNC:53369 LINC02437 long intergenic non-protein coding RNA 2437 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 107986333 ENSG00000248517 OTTHUMG00000160551 XR_001741949 HGNC:53369 +HGNC:53370 LINC02438 long intergenic non-protein coding RNA 2438 non-coding RNA RNA, long non-coding Approved 4p15.31 04p15.31 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 107986264 ENSG00000248238 OTTHUMG00000160243 XR_001741605 HGNC:53370 +HGNC:53371 LINC02439 long intergenic non-protein coding RNA 2439 non-coding RNA RNA, long non-coding Approved 12q24.23 12q24.23 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105370016 ENSG00000255814 OTTHUMG00000168912 NR_134997 HGNC:53371 +HGNC:53372 LINC02440 long intergenic non-protein coding RNA 2440 non-coding RNA RNA, long non-coding Approved 12q24.23 12q24.23 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105370015 ENSG00000255618 OTTHUMG00000168911 XR_945415 HGNC:53372 +HGNC:53373 LINC02441 long intergenic non-protein coding RNA 2441 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 CRAT8 cervical cancer-associated transcript 8 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105370070 ENSG00000256643 OTTHUMG00000168427 NR_131985 HGNC:53373 +HGNC:53374 LINC02442 long intergenic non-protein coding RNA 2442 non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105369815 ENSG00000256077 OTTHUMG00000169088 XR_945050 HGNC:53374 +HGNC:53375 LINC02443 long intergenic non-protein coding RNA 2443 non-coding RNA RNA, long non-coding Approved 12p13.32 12p13.32 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 101929584 ENSG00000256115 OTTHUMG00000168644 NR_120476 HGNC:53375 +HGNC:53376 LINC02444 long intergenic non-protein coding RNA 2444 non-coding RNA RNA, long non-coding Approved 12q21.1 12q21.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 101928137 ENSG00000258123 OTTHUMG00000169672 NR_110130 HGNC:53376 +HGNC:53377 LINC02445 long intergenic non-protein coding RNA 2445 non-coding RNA RNA, long non-coding Approved 12q21.1 12q21.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105369840 ENSG00000257750 OTTHUMG00000169687 XR_007063369 HGNC:53377 +HGNC:53378 LINC02446 long intergenic non-protein coding RNA 2446 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 101060038 ENSG00000256039 OTTHUMG00000168797 NR_146455 HGNC:53378 +HGNC:53379 LINC02447 long intergenic non-protein coding RNA 2447 non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 730971 ENSG00000245468 OTTHUMG00000159980 NR_027441 HGNC:53379 +HGNC:53380 LINC02448 long intergenic non-protein coding RNA 2448 non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105369792 ENSG00000257230 OTTHUMG00000169922 XR_945011 HGNC:53380 +HGNC:53381 LINC02449 long intergenic non-protein coding RNA 2449 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 101927905 ENSG00000215241 OTTHUMG00000168640 NR_120454 HGNC:53381 +HGNC:53382 LINC02450 long intergenic non-protein coding RNA 2450 non-coding RNA RNA, long non-coding Approved 12q12 12q12 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105369739 ENSG00000257114 OTTHUMG00000169348 NR_135028 HGNC:53382 +HGNC:53383 LINC02451 long intergenic non-protein coding RNA 2451 non-coding RNA RNA, long non-coding Approved 12q12 12q12 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105369738 ENSG00000257164 OTTHUMG00000169347 NR_135026 HGNC:53383 +HGNC:53384 LINC02452 long intergenic non-protein coding RNA 2452 non-coding RNA RNA, long non-coding Approved 12q23.1 12q23.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105369924 ENSG00000283422 OTTHUMG00000191864 XR_945239 HGNC:53384 +HGNC:53392 LINC02453 long intergenic non-protein coding RNA 2453 non-coding RNA RNA, long non-coding Approved 12q23.1 12q23.1 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 643770 ENSG00000245017 OTTHUMG00000170208 NR_038383 HGNC:53392 +HGNC:53387 LINC02454 long intergenic non-protein coding RNA 2454 non-coding RNA RNA, long non-coding Approved 12q14.3 12q14.3 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105369807 ENSG00000256268 OTTHUMG00000168899 NR_146529 HGNC:53387 +HGNC:53388 LINC02455 long intergenic non-protein coding RNA 2455 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105369597 ENSG00000256672 OTTHUMG00000168085 XR_001748952 HGNC:53388 +HGNC:53389 LINC02456 long intergenic non-protein coding RNA 2456 non-coding RNA RNA, long non-coding Approved 12q23.2 12q23.2 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105369942 ENSG00000283052 OTTHUMG00000191608 XR_007063427 HGNC:53389 +HGNC:53393 LINC02457 long intergenic non-protein coding RNA 2457 non-coding RNA RNA, long non-coding Approved 12q24.22 12q24.22 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 107984439 ENSG00000258018 OTTHUMG00000169394 XR_001749339 HGNC:53393 +HGNC:53394 LINC02458 long intergenic non-protein coding RNA 2458 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 728084 ENSG00000246363 OTTHUMG00000169908 NR_038385 HGNC:53394 +HGNC:53395 LINC02459 long intergenic non-protein coding RNA 2459 non-coding RNA RNA, long non-coding Approved 12q24.21 12q24.21 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105369996 ENSG00000257476 OTTHUMG00000169468 NR_146536 HGNC:53395 +HGNC:53396 LINC02460 long intergenic non-protein coding RNA 2460 non-coding RNA RNA, long non-coding Approved 12q24.23 12q24.23 Long intergenic non-protein coding RNAs 1986 2017-03-27 2017-03-27 105370013 ENSG00000255714 OTTHUMG00000168901 XR_945412 HGNC:53396 +HGNC:53398 LINC02461 long intergenic non-protein coding RNA 2461 non-coding RNA RNA, long non-coding Approved 12q12 12q12 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 105369740 ENSG00000258331 OTTHUMG00000169352 NR_146866 HGNC:53398 +HGNC:53399 LINC02462 long intergenic non-protein coding RNA 2462 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 105377434 ENSG00000251291 OTTHUMG00000161469 NR_147155 HGNC:53399 +HGNC:53400 LINC02463 long intergenic non-protein coding RNA 2463 non-coding RNA RNA, long non-coding Approved 12q24.21 12q24.21 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 105370004 ENSG00000257683 OTTHUMG00000169403 XR_001749337 HGNC:53400 +HGNC:53401 LINC02464 long intergenic non-protein coding RNA 2464 non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 105369854 ENSG00000257677 OTTHUMG00000169970 XR_007063381 HGNC:53401 +HGNC:53403 LINC02465 long intergenic non-protein coding RNA 2465 non-coding RNA RNA, long non-coding Approved 4q28.2 04q28.2 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 107986313 ENSG00000249618 OTTHUMG00000161197 NR_151713 HGNC:53403 +HGNC:53405 LINC02466 long intergenic non-protein coding RNA 2466 non-coding RNA RNA, long non-coding Approved 4q28.2 04q28.2 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 101927282 ENSG00000246876 OTTHUMG00000161199 NR_110753 HGNC:53405 +HGNC:53404 LINC02467 long intergenic non-protein coding RNA 2467 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 107984446 ENSG00000256763 OTTHUMG00000168500 HGNC:53404 +HGNC:53406 LINC02468 long intergenic non-protein coding RNA 2468 non-coding RNA RNA, long non-coding Approved 12p12.2 12p12.2 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 105369684 ENSG00000256499 OTTHUMG00000168914 NR_146523 HGNC:53406 +HGNC:53408 LINC02469 long intergenic non-protein coding RNA 2469 non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 105377301 ENSG00000248408 OTTHUMG00000161747 XR_007058157 HGNC:53408 +HGNC:53409 LINC02470 long intergenic non-protein coding RNA 2470 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 AC091814.2 Long intergenic non-protein coding RNAs 1986 2017-03-28 2018-06-28 100506159 ENSG00000225231 OTTHUMG00000140394 NR_104634 29436261 HGNC:53409 +HGNC:53410 LINC02471 long intergenic non-protein coding RNA 2471 non-coding RNA RNA, long non-coding Approved 12q12 12q12 AC079630.2 Long intergenic non-protein coding RNAs 1986 2017-03-28 2018-05-24 105369734 ENSG00000223914 OTTHUMG00000059745 NR_146526 HGNC:53410 +HGNC:53411 LINC02472 long intergenic non-protein coding RNA 2472 non-coding RNA RNA, long non-coding Approved 4p15.1 04p15.1 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 105374561 ENSG00000248338 OTTHUMG00000161690 NR_146996 HGNC:53411 +HGNC:53412 LINC02473 long intergenic non-protein coding RNA 2473 non-coding RNA RNA, long non-coding Approved 4p15.2 04p15.2 Long intergenic non-protein coding RNAs 1986 2017-03-28 2017-03-28 107986266 ENSG00000261121 OTTHUMG00000176117 XR_001741616 HGNC:53412 +HGNC:53417 LINC02474 long intergenic non-protein coding RNA 2474 non-coding RNA RNA, long non-coding Approved 1q41 01q41 RP11-400N13.2 Long intergenic non-protein coding RNAs 1986 2017-03-29 2018-04-27 110806276 ENSG00000228437 OTTHUMG00000037424 NR_149071 29693709 HGNC:53417 +HGNC:53418 LINC02475 long intergenic non-protein coding RNA 2475 non-coding RNA RNA, long non-coding Approved 4p13 04p13 LVCAT1 liver cancer-associated transcript 1 Long intergenic non-protein coding RNAs 1986 2017-03-29 2017-03-29 100506827 ENSG00000251350 OTTHUMG00000160456 NR_131959 25599403 HGNC:53418 +HGNC:53419 LINC02476 long intergenic non-protein coding RNA 2476 non-coding RNA RNA, long non-coding Approved 7q31.31 07q31.31 "LVCAT5|lnc-TSPAN12" liver cancer-associated transcript 5 Long intergenic non-protein coding RNAs 1986 2017-03-29 2020-04-01 105375475 ENSG00000225546 OTTHUMG00000156951 NR_131962 32222644 HGNC:53419 +HGNC:53425 LINC02477 long intergenic non-protein coding RNA 2477 non-coding RNA RNA, long non-coding Approved 4q32.1 04q32.1 Long intergenic non-protein coding RNAs 1986 2017-03-31 2017-03-31 105377512 ENSG00000249425 OTTHUMG00000161427 XR_001741914 HGNC:53425 +HGNC:53446 LINC02478 long intergenic non-protein coding RNA 2478 non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Long intergenic non-protein coding RNAs 1986 2017-04-19 2017-04-19 100505984 ENSG00000285373 NR_103775 HGNC:53446 +HGNC:53453 LINC02479 long intergenic non-protein coding RNA 2479 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2017-04-24 2017-04-24 105377420 ENSG00000251326 OTTHUMG00000161766 XR_939194 HGNC:53453 +HGNC:53454 LINC02480 long intergenic non-protein coding RNA 2480 non-coding RNA RNA, long non-coding Approved 4q12 04q12 Long intergenic non-protein coding RNAs 1986 2017-04-24 2017-04-24 105377652 ENSG00000251040 OTTHUMG00000160622 XR_941047 HGNC:53454 +HGNC:27958 LINC02481 long intergenic non-protein coding RNA 2481 non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 LINC002481 Long intergenic non-protein coding RNAs 1986 2017-04-24 2019-12-11 2019-12-11 339988 ENSG00000246526 OTTHUMG00000160124 NR_147207 HGNC:27958 +HGNC:53458 LINC02482 long intergenic non-protein coding RNA 2482 non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 Long intergenic non-protein coding RNAs 1986 2017-04-25 2017-04-25 105374366 ENSG00000251580 OTTHUMG00000162381 NR_134664 HGNC:53458 +HGNC:53457 LINC02483 long intergenic non-protein coding RNA 2483 non-coding RNA RNA, long non-coding Approved 4q21.1 04q21.1 Long intergenic non-protein coding RNAs 1986 2017-04-25 2017-05-09 441025 ENSG00000251383 OTTHUMG00000161884 NR_033964 HGNC:53457 +HGNC:53459 LINC02484 long intergenic non-protein coding RNA 2484 non-coding RNA RNA, long non-coding Approved 4p15.1 04p15.1 Long intergenic non-protein coding RNAs 1986 2017-04-25 2017-04-25 105374394 ENSG00000248685 OTTHUMG00000160362 NR_147183 HGNC:53459 +HGNC:53460 LINC02485 long intergenic non-protein coding RNA 2485 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2017-04-25 2017-04-25 105377439 ENSG00000248456 OTTHUMG00000161216 NR_147187 HGNC:53460 +HGNC:53466 LINC02487 long intergenic non-protein coding RNA 2487 non-coding RNA RNA, long non-coding Approved 6q27 06q27 Long intergenic non-protein coding RNAs 1986 2017-04-27 2017-04-27 441178 ENSG00000203688 OTTHUMG00000016027 NR_117092 28415559 HGNC:53466 +HGNC:53467 LINC02488 long intergenic non-protein coding RNA 2488 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 CTD-2316B1 Long intergenic non-protein coding RNAs 1986 2017-04-27 2017-04-27 111082994 ENSG00000249362 OTTHUMG00000162592 "DR033777|AI929023" NR_149089 28415557 HGNC:53467 +HGNC:53470 LINC02489 long intergenic non-protein coding RNA 2489 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 CTD-2589M5.4 Long intergenic non-protein coding RNAs 1986 2017-04-27 2021-07-20 101928919 ENSG00000255007 OTTHUMG00000166910 XR_001748205 28415557 HGNC:53470 +HGNC:53471 LINC02490 long intergenic non-protein coding RNA 2490 non-coding RNA RNA, long non-coding Approved 15q21.3 15q21.3 RP11-209E8 Long intergenic non-protein coding RNAs 1986 2017-04-27 2017-04-27 105370822 ENSG00000259237 OTTHUMG00000172483 NR_147181 28415557 HGNC:53471 +HGNC:53475 LINC02491 long intergenic non-protein coding RNA 2491 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 Long intergenic non-protein coding RNAs 1986 2017-05-03 2017-05-03 105377467 ENSG00000248686 OTTHUMG00000162184 XR_007058295 HGNC:53475 +HGNC:53476 LINC02492 long intergenic non-protein coding RNA 2492 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 Long intergenic non-protein coding RNAs 1986 2017-05-03 2017-05-03 100506272 ENSG00000250590 OTTHUMG00000160302 NR_110436 HGNC:53476 +HGNC:53477 LINC02493 long intergenic non-protein coding RNA 2493 non-coding RNA RNA, long non-coding Approved 4p15.32 04p15.32 Long intergenic non-protein coding RNAs 1986 2017-05-03 2017-05-03 101929123 ENSG00000250819 OTTHUMG00000160219 NR_125919 HGNC:53477 +HGNC:53479 LINC02494 long intergenic non-protein coding RNA 2494 non-coding RNA RNA, long non-coding Approved 4q13.1 04q13.1 Long intergenic non-protein coding RNAs 1986 2017-05-03 2017-05-03 105377671 ENSG00000250340 OTTHUMG00000161708 NR_133943 HGNC:53479 +HGNC:53480 LINC02496 long intergenic non-protein coding RNA 2496 non-coding RNA RNA, long non-coding Approved 4q13.1 04q13.1 Long intergenic non-protein coding RNAs 1986 2017-05-03 2017-05-03 105377248 ENSG00000249066 OTTHUMG00000161732 XR_938807 HGNC:53480 +HGNC:53482 LINC02497 long intergenic non-protein coding RNA 2497 non-coding RNA RNA, long non-coding Approved 4p15.1 04p15.1 Long intergenic non-protein coding RNAs 1986 2017-05-03 2017-05-03 102723778 ENSG00000251182 OTTHUMG00000160369 NR_125935 HGNC:53482 +HGNC:53483 LINC02498 long intergenic non-protein coding RNA 2498 non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 Long intergenic non-protein coding RNAs 1986 2017-05-03 2017-05-03 102723525 ENSG00000283083 OTTHUMG00000191612 XR_427495 HGNC:53483 +HGNC:53484 LINC02499 long intergenic non-protein coding RNA 2499 non-coding RNA RNA, long non-coding Approved 4q13.3 04q13.3 Long intergenic non-protein coding RNAs 1986 2017-05-03 2021-03-04 728040 ENSG00000250436 OTTHUMG00000161581 NR_046377 32039538 HGNC:53484 +HGNC:53488 LINC02500 long intergenic non-protein coding RNA 2500 non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 101928679 ENSG00000249460 OTTHUMG00000160700 NR_149139 HGNC:53488 +HGNC:53489 LINC02501 long intergenic non-protein coding RNA 2501 non-coding RNA RNA, long non-coding Approved 4p15.1 04p15.1 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 105374565 ENSG00000249882 OTTHUMG00000160367 NR_149121 HGNC:53489 +HGNC:53491 LINC02502 long intergenic non-protein coding RNA 2502 non-coding RNA RNA, long non-coding Approved 4q27 04q27 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 100996694 ENSG00000250392 OTTHUMG00000161334 NR_121639 HGNC:53491 +HGNC:53492 LINC02503 long intergenic non-protein coding RNA 2503 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 105377349 ENSG00000249614 OTTHUMG00000161751 HGNC:53492 +HGNC:53493 LINC02504 long intergenic non-protein coding RNA 2504 non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 101928288 ENSG00000248339 OTTHUMG00000161813 XR_001741531 HGNC:53493 +HGNC:53494 LINC02505 long intergenic non-protein coding RNA 2505 non-coding RNA RNA, long non-coding Approved 4p14 04p14 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 105374400 ENSG00000248215 OTTHUMG00000161702 NR_149124 HGNC:53494 +HGNC:53495 LINC02506 long intergenic non-protein coding RNA 2506 non-coding RNA RNA, long non-coding Approved 4p15.1 04p15.1 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 102723828 ENSG00000251129 OTTHUMG00000160440 NR_125936 HGNC:53495 +HGNC:53496 LINC02507 long intergenic non-protein coding RNA 2507 non-coding RNA RNA, long non-coding Approved 4q31.23 04q31.23 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 105377477 ENSG00000251688 OTTHUMG00000161359 XR_007058312 HGNC:53496 +HGNC:53497 LINC02508 long intergenic non-protein coding RNA 2508 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 105377610 ENSG00000251619 OTTHUMG00000160328 NR_149102 HGNC:53497 +HGNC:53498 LINC02509 long intergenic non-protein coding RNA 2509 non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 105377556 ENSG00000250263 OTTHUMG00000160730 NR_149104 HGNC:53498 +HGNC:53499 LINC02510 long intergenic non-protein coding RNA 2510 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 729307 ENSG00000250341 OTTHUMG00000161278 NR_134640 HGNC:53499 +HGNC:53500 LINC02511 long intergenic non-protein coding RNA 2511 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 105377441 ENSG00000248869 OTTHUMG00000161243 NR_149105 HGNC:53500 +HGNC:53501 LINC02512 long intergenic non-protein coding RNA 2512 non-coding RNA RNA, long non-coding Approved 4q33 04q33 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 107986241 ENSG00000251061 OTTHUMG00000160896 XR_001741530 HGNC:53501 +HGNC:53502 LINC02513 long intergenic non-protein coding RNA 2513 non-coding RNA RNA, long non-coding Approved 4p14 04p14 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 105374410 ENSG00000248227 OTTHUMG00000160385 NR_149123 HGNC:53502 +HGNC:53503 LINC02514 long intergenic non-protein coding RNA 2514 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 105377602 ENSG00000250042 OTTHUMG00000160297 NR_149103 HGNC:53503 +HGNC:53504 LINC02515 long intergenic non-protein coding RNA 2515 non-coding RNA RNA, long non-coding Approved 4q35.2 04q35.2 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 102723920 ENSG00000250620 OTTHUMG00000160298 XR_001741954 HGNC:53504 +HGNC:53505 LINC02516 long intergenic non-protein coding RNA 2516 non-coding RNA RNA, long non-coding Approved 4q28.1 04q28.1 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 101927087 ENSG00000261083 OTTHUMG00000176090 NR_110838 HGNC:53505 +HGNC:53506 LINC02517 long intergenic non-protein coding RNA 2517 non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 Long intergenic non-protein coding RNAs 1986 2017-05-09 2017-05-09 105374374 ENSG00000249145 OTTHUMG00000160052 NR_149125 HGNC:53506 +HGNC:53509 LINC02518 long intergenic non-protein coding RNA 2518 non-coding RNA RNA, long non-coding Approved 6q21 06q21 Long intergenic non-protein coding RNAs 1986 2017-05-12 2017-05-12 105377957 ENSG00000232316 OTTHUMG00000015399 NR_149098 HGNC:53509 +HGNC:53510 LINC02519 long intergenic non-protein coding RNA 2519 non-coding RNA RNA, long non-coding Approved 6q27 06q27 Long intergenic non-protein coding RNAs 1986 2017-05-12 2017-05-12 105378147 ENSG00000226194 OTTHUMG00000016055 XR_001744474 HGNC:53510 +HGNC:53511 LINC02520 long intergenic non-protein coding RNA 2520 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 Long intergenic non-protein coding RNAs 1986 2017-05-12 2017-05-12 100505530 ENSG00000204110 OTTHUMG00000177812 NR_126057 HGNC:53511 +HGNC:53560 LINC02521 long intergenic non-protein coding RNA 2521 non-coding RNA RNA, long non-coding Approved 6p25.2 06p25.2 Long intergenic non-protein coding RNAs 1986 2017-05-31 2017-05-31 105374885 ENSG00000228718 OTTHUMG00000014123 NR_149118 HGNC:53560 +HGNC:53541 LINC02522 long intergenic non-protein coding RNA 2522 non-coding RNA RNA, long non-coding Approved 6p24.3 06p24.3 Long intergenic non-protein coding RNAs 1986 2017-05-15 2017-05-15 101928106 ENSG00000231056 OTTHUMG00000014232 XR_007059912 HGNC:53541 +HGNC:53542 LINC02523 long intergenic non-protein coding RNA 2523 non-coding RNA RNA, long non-coding Approved 6q22.31 06q22.31 Long intergenic non-protein coding RNAs 1986 2017-05-15 2017-05-15 643623 ENSG00000224506 OTTHUMG00000015509 NR_038906 HGNC:53542 +HGNC:53544 LINC02524 long intergenic non-protein coding RNA 2524 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 2021-07-07 2021-07-07 105378013 ENSG00000233534 OTTHUMG00000015634 XR_943036 +HGNC:53545 LINC02525 long intergenic non-protein coding RNA 2525 non-coding RNA RNA, long non-coding Approved 6p25.2 06p25.2 Long intergenic non-protein coding RNAs 1986 2017-05-15 2018-04-09 100507194 ENSG00000230269 OTTHUMG00000014141 NR_038295 HGNC:53545 +HGNC:53550 LINC02526 long intergenic non-protein coding RNA 2526 non-coding RNA RNA, long non-coding Approved 6q21 06q21 Long intergenic non-protein coding RNAs 1986 2017-05-19 2017-05-19 105377926 ENSG00000229654 OTTHUMG00000015306 NR_149100 HGNC:53550 +HGNC:53553 LINC02527 long intergenic non-protein coding RNA 2527 non-coding RNA RNA, long non-coding Approved 6q21 06q21 Long intergenic non-protein coding RNAs 1986 2017-05-26 2017-05-26 105377946 ENSG00000227012 OTTHUMG00000015381 NR_149099 HGNC:53553 +HGNC:53554 LINC02528 long intergenic non-protein coding RNA 2528 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 Long intergenic non-protein coding RNAs 1986 2017-05-26 2021-09-09 105378020 ENSG00000226004 NR_149097 HGNC:53554 +HGNC:53555 LINC02529 long intergenic non-protein coding RNA 2529 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 Long intergenic non-protein coding RNAs 1986 2017-05-26 2017-05-26 102724053 ENSG00000234777 OTTHUMG00000015931 NR_125873 HGNC:53555 +HGNC:53556 LINC02530 long intergenic non-protein coding RNA 2530 non-coding RNA RNA, long non-coding Approved 6p24.1 06p24.1 Long intergenic non-protein coding RNAs 1986 2017-05-26 2017-05-26 101928309 ENSG00000234015 OTTHUMG00000014269 NR_149140 HGNC:53556 +HGNC:53557 LINC02531 long intergenic non-protein coding RNA 2531 non-coding RNA RNA, long non-coding Approved 6q16.1 06q16.1 Long intergenic non-protein coding RNAs 1986 2017-05-26 2017-05-26 107986533 ENSG00000220908 OTTHUMG00000015224 HGNC:53557 +HGNC:53549 LINC02532 long intergenic non-protein coding RNA 2532 non-coding RNA RNA, long non-coding Approved 6q21 06q21 Long intergenic non-protein coding RNAs 1986 2017-05-31 2017-05-31 100422737 ENSG00000235142 OTTHUMG00000015305 NR_033557 HGNC:53549 +HGNC:53566 LINC02533 long intergenic non-protein coding RNA 2533 non-coding RNA RNA, long non-coding Approved 6p25.1 06p25.1 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 105374895 ENSG00000260239 OTTHUMG00000175890 NR_149117 HGNC:53566 +HGNC:53567 LINC02534 long intergenic non-protein coding RNA 2534 non-coding RNA RNA, long non-coding Approved 6q22.1 06q22.1 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 105377962 ENSG00000228777 OTTHUMG00000015421 NR_134602 HGNC:53567 +HGNC:53569 LINC02535 long intergenic non-protein coding RNA 2535 non-coding RNA RNA, long non-coding Approved 6q14.3 06q14.3 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 101928820 ENSG00000234155 OTTHUMG00000015137 NR_134634 HGNC:53569 +HGNC:53570 LINC02536 long intergenic non-protein coding RNA 2536 non-coding RNA RNA, long non-coding Approved 6q22.33 06q22.33 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 105377997 ENSG00000281248 OTTHUMG00000190264 XR_001743851 HGNC:53570 +HGNC:27784 LINC02537 long intergenic non-protein coding RNA 2537 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 285857 ENSG00000283215 OTTHUMG00000191625 NR_149142 HGNC:27784 +HGNC:53571 LINC02538 long intergenic non-protein coding RNA 2538 non-coding RNA RNA, long non-coding Approved 6q27 06q27 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 401286 ENSG00000272549 OTTHUMG00000185869 NR_117091 HGNC:53571 +HGNC:53572 LINC02539 long intergenic non-protein coding RNA 2539 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 RP11-356I2.2 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-09-28 100507406 ENSG00000234956 OTTHUMG00000015661 NR_121618 HGNC:53572 +HGNC:53573 LINC02540 long intergenic non-protein coding RNA 2540 non-coding RNA RNA, long non-coding Approved 6q14.1 06q14.1 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 105377860 ENSG00000236635 OTTHUMG00000015064 NR_149101 HGNC:53573 +HGNC:53574 LINC02541 long intergenic non-protein coding RNA 2541 non-coding RNA RNA, long non-coding Approved 6q21 06q21 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 101927686 ENSG00000230943 OTTHUMG00000015401 NR_125844 HGNC:53574 +HGNC:53576 LINC02542 long intergenic non-protein coding RNA 2542 non-coding RNA RNA, long non-coding Approved 6q14.1 06q14.1 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 102724168 ENSG00000226453 OTTHUMG00000015101 NR_149134 HGNC:53576 +HGNC:53577 LINC02543 long intergenic non-protein coding RNA 2543 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 101928406 ENSG00000232947 OTTHUMG00000014297 XR_241981 HGNC:53577 +HGNC:53578 LINC02544 long intergenic non-protein coding RNA 2544 non-coding RNA RNA, long non-coding Approved 6q27 06q27 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 101929504 ENSG00000261039 OTTHUMG00000175951 NR_125863 HGNC:53578 +HGNC:53580 LINC02545 long intergenic non-protein coding RNA 2545 non-coding RNA RNA, long non-coding Approved 11p15.2 11p15.2 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 105376561 ENSG00000254930 OTTHUMG00000165749 NR_149109 HGNC:53580 +HGNC:53581 LINC02546 long intergenic non-protein coding RNA 2546 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 105376606 ENSG00000255117 OTTHUMG00000166133 NR_149106 HGNC:53581 +HGNC:53582 LINC02547 long intergenic non-protein coding RNA 2547 non-coding RNA RNA, long non-coding Approved 11p15.3 11p15.3 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 105376554 ENSG00000254486 OTTHUMG00000165710 NR_135109 HGNC:53582 +HGNC:53583 LINC02548 long intergenic non-protein coding RNA 2548 non-coding RNA RNA, long non-coding Approved 11p15.3-p15.2 11p15.3-p15.2 Long intergenic non-protein coding RNAs 1986 2017-06-06 2018-02-13 105376562 ENSG00000255411 OTTHUMG00000165747 NR_149108 HGNC:53583 +HGNC:53584 LINC02549 long intergenic non-protein coding RNA 2549 non-coding RNA RNA, long non-coding Approved 6q12 06q12 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 101928280 ENSG00000226497 OTTHUMG00000014979 NR_125854 HGNC:53584 +HGNC:53585 LINC02550 long intergenic non-protein coding RNA 2550 non-coding RNA RNA, long non-coding Approved 11q23.1 11q23.1 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 105369490 ENSG00000271584 OTTHUMG00000185166 NR_149131 HGNC:53585 +HGNC:53586 LINC02551 long intergenic non-protein coding RNA 2551 non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 RP11-890B15.2 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-16 100507431 ENSG00000254842 OTTHUMG00000165661 NR_125383 28611953 HGNC:53586 +HGNC:53587 LINC02552 long intergenic non-protein coding RNA 2552 non-coding RNA RNA, long non-coding Approved 11q22.3 11q22.3 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 102723895 ENSG00000256422 OTTHUMG00000165998 NR_120585 HGNC:53587 +HGNC:53588 LINC02553 long intergenic non-protein coding RNA 2553 non-coding RNA RNA, long non-coding Approved 11q21 11q21 Long intergenic non-protein coding RNAs 1986 2017-06-06 2017-06-06 105369449 ENSG00000255039 OTTHUMG00000167664 XR_007062858 HGNC:53588 +HGNC:53594 LINC02554 long intergenic non-protein coding RNA 2554 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Long intergenic non-protein coding RNAs 1986 2017-06-16 2017-06-21 100507657 ENSG00000226741 OTTHUMG00000150947 NR_134581 HGNC:53594 +HGNC:53593 LINC02555 long intergenic non-protein coding RNA 2555 non-coding RNA RNA, long non-coding Approved 12q12 12q12 AC079630.2 Long intergenic non-protein coding RNAs 1986 2017-06-16 2017-06-16 2017-06-16 2017-06-16 101930164 ENSG00000260943 OTTHUMG00000172895 AK026751 XR_001749085 28618399 HGNC:53593 +HGNC:53595 LINC02556 long intergenic non-protein coding RNA 2556 non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 Long intergenic non-protein coding RNAs 1986 2017-06-16 2017-06-16 102724679 ENSG00000236611 OTTHUMG00000150838 NR_149133 HGNC:53595 +HGNC:53596 LINC02557 long intergenic non-protein coding RNA 2557 non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 Long intergenic non-protein coding RNAs 1986 2017-06-16 2017-06-16 105372955 ENSG00000225413 OTTHUMG00000150840 XR_001756411 HGNC:53596 +HGNC:53597 LINC02558 long intergenic non-protein coding RNA 2558 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Long intergenic non-protein coding RNAs 1986 2017-06-16 2017-06-16 105372999 ENSG00000230866 OTTHUMG00000150005 NR_149128 HGNC:53597 +HGNC:53598 LINC02559 long intergenic non-protein coding RNA 2559 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Long intergenic non-protein coding RNAs 1986 2017-06-16 2017-06-16 105372972 ENSG00000236464 OTTHUMG00000151344 XR_938103 HGNC:53598 +HGNC:53600 LINC02560 long intergenic non-protein coding RNA 2560 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 CTD-2619J13.13 Long intergenic non-protein coding RNAs 1986 2017-06-16 2017-06-23 110806301 ENSG00000268307 OTTHUMG00000183532 NR_149054 28611953 HGNC:53600 +HGNC:53601 LINC02561 long intergenic non-protein coding RNA 2561 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 RP11-445P17.8 Long intergenic non-protein coding RNAs 1986 2017-06-16 2017-06-16 110806285 ENSG00000224034 OTTHUMG00000017590 NR_149060 28611953 HGNC:53601 +HGNC:53602 LINC02562 long intergenic non-protein coding RNA 2562 non-coding RNA RNA, long non-coding Approved 4q13.3 04q13.3 RP11-44F21.5 Long intergenic non-protein coding RNAs 1986 2017-06-16 2017-06-16 105377283 ENSG00000260265 OTTHUMG00000176161 NR_149051 28611953 HGNC:53602 +HGNC:52923 LINC02563 long intergenic non-protein coding RNA 2563 non-coding RNA RNA, long non-coding Approved 17q24.1 17q24.1 CRAT40 cervical cancer-associated transcript 40 Long intergenic non-protein coding RNAs 1986 2017-06-19 2017-06-19 105827617 ENSG00000263520 OTTHUMG00000179538 NR_131984 HGNC:52923 +HGNC:53604 LINC02564 long intergenic non-protein coding RNA 2564 non-coding RNA RNA, long non-coding Approved 18p11.32 18p11.32 Long intergenic non-protein coding RNAs 1986 2017-06-20 2017-06-20 102724130 ENSG00000262352 OTTHUMG00000177910 NR_149137 HGNC:53604 +HGNC:53605 LINC02565 long intergenic non-protein coding RNA 2565 non-coding RNA RNA, long non-coding Approved 18q21.31 18q21.31 Long intergenic non-protein coding RNAs 1986 2017-06-20 2017-06-20 105372138 ENSG00000267726 OTTHUMG00000180100 NR_149129 HGNC:53605 +HGNC:53606 LINC02566 long intergenic non-protein coding RNA 2566 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 LNC-Sox5 Long intergenic non-protein coding RNAs 1986 2021-11-18 2021-11-18 123706510 ENSG00000115934 OTTHUMG00000169041 28371600 +HGNC:53609 LINC02567 long intergenic non-protein coding RNA 2567 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 ENST00000427806 Long intergenic non-protein coding RNAs 1986 2017-07-05 2017-07-05 2017-07-05 110806286 ENSG00000237552 OTTHUMG00000009684 NR_149059 27021288 HGNC:53609 +HGNC:51430 LINC02568 long intergenic non-protein coding RNA 2568 non-coding RNA RNA, long non-coding Approved 15q22.2-q22.31 15q22.2-q22.31 Long intergenic non-protein coding RNAs 1986 2017-08-03 2018-02-13 102723344 ENSG00000259459 OTTHUMG00000172301 BX642193 NR_120375 HGNC:51430 +HGNC:39760 LINC02569 long intergenic non-protein coding RNA 2569 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 TCONS_00011283 Long intergenic non-protein coding RNAs 1986 2017-08-03 2017-08-03 111082993 ENSG00000235781 OTTHUMG00000132773 BX102899 NR_149088 HGNC:39760 +HGNC:39766 LINC02570 long intergenic non-protein coding RNA 2570 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 XXbac-BPG27H4.8 Long intergenic non-protein coding RNAs 1986 2017-08-03 2019-07-17 105375014 ENSG00000237923 OTTHUMG00000133550 NR_134610 "18193213|31309112" HGNC:39766 +HGNC:53630 LINC02571 long intergenic non-protein coding RNA 2571 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 Long intergenic non-protein coding RNAs 1986 2017-08-04 2017-08-04 105375015 ENSG00000256166 OTTHUMG00000168870 NR_149115 HGNC:53630 +HGNC:53634 LINC02572 long intergenic non-protein coding RNA 2572 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 AC079776.2 Long intergenic non-protein coding RNAs 1986 2017-08-09 2017-08-09 105373615 ENSG00000229536 OTTHUMG00000153489 NR_149127 28781691 HGNC:53634 +HGNC:53730 LINC02573 long intergenic non-protein coding RNA 2573 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 Long intergenic non-protein coding RNAs 1986 2017-09-21 2017-09-21 111216285 ENSG00000233236 OTTHUMG00000074606 NR_151724 28900495 HGNC:53730 +HGNC:53746 LINC02574 long intergenic non-protein coding RNA 2574 non-coding RNA RNA, long non-coding Approved 1p35.3 01p35.3 RP11-288L9.1 Long intergenic non-protein coding RNAs 1986 2017-09-28 2017-09-28 111216282 ENSG00000233975 OTTHUMG00000003519 NR_151722 28942040 HGNC:53746 +HGNC:53747 LINC02575 long intergenic non-protein coding RNA 2575 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 AP001065.15 Long intergenic non-protein coding RNAs 1986 2017-09-28 2017-09-28 111216286 ENSG00000228709 OTTHUMG00000086925 NR_155204 28942040 HGNC:53747 +HGNC:53748 LINC02576 long intergenic non-protein coding RNA 2576 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2017-09-28 2017-09-28 102724233 ENSG00000232613 OTTHUMG00000152699 XR_007086435 28942040 HGNC:53748 +HGNC:53749 LINC02577 long intergenic non-protein coding RNA 2577 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 Long intergenic non-protein coding RNAs 1986 2017-09-28 2017-09-28 111216280 ENSG00000228742 OTTHUMG00000157590 NR_170301 28942040 +HGNC:53750 LINC02578 long intergenic non-protein coding RNA 2578 non-coding RNA RNA, long non-coding Approved 9q33.1 09q33.1 RP11-127L21.1 Long intergenic non-protein coding RNAs 1986 2017-09-28 2017-09-28 111216287 ENSG00000235201 OTTHUMG00000020567 NR_151725 28942040 HGNC:53750 +HGNC:27942 LINC02579 long intergenic non-protein coding RNA 2579 non-coding RNA RNA, long non-coding Approved 2p14 02p14 AC007365.1 Long intergenic non-protein coding RNAs 1986 2017-09-28 2017-09-28 339807 ENSG00000233694 OTTHUMG00000152679 NR_034023 28942040 HGNC:27942 +HGNC:53751 LINC02580 long intergenic non-protein coding RNA 2580 non-coding RNA RNA, long non-coding Approved 2p21 02p21 AC093609.1 Long intergenic non-protein coding RNAs 1986 2017-09-28 2017-09-28 100506047 ENSG00000230587 OTTHUMG00000152374 NR_151714 28942040 HGNC:53751 +HGNC:53792 LINC02582 long intergenic non-protein coding RNA 2582 non-coding RNA RNA, long non-coding Approved 18q22.3 18q22.3 CTD-2354A18.1 Long intergenic non-protein coding RNAs 1986 2017-12-20 2017-12-20 100505817 ENSG00000261780 OTTHUMG00000176206 NR_038340 29254165 HGNC:53792 +HGNC:53812 LINC02583 long intergenic non-protein coding RNA 2583 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Long intergenic non-protein coding RNAs 1986 2018-01-24 2021-07-15 101805491 ENSG00000187600 NR_103805 HGNC:53812 +HGNC:33275 LINC02584 long intergenic non-protein coding RNA 2584 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 "C11orf78|NCRNA00224|ANO1-AS2" "chromosome 11 open reading frame 78|non-protein coding RNA 224|ANO1 antisense RNA 2 (non-protein coding)|ANO1 antisense RNA 2|ANO1 antisense RNA 2 (head to head)" Long intergenic non-protein coding RNAs 1986 2007-01-29 2018-03-21 2018-03-21 2018-03-21 100009613 ENSG00000254417 OTTHUMG00000167162 uc058erk.1 "AW592641|EF419887" NR_103835 ANO1-AS2 HGNC:33275 +HGNC:50302 LINC02585 long intergenic non-protein coding RNA 2585 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 CELSR3-AS1 CELSR3 antisense RNA 1 (head to head) Long intergenic non-protein coding RNAs 1986 2014-04-07 2018-03-22 2018-03-22 2018-03-22 102724368 ENSG00000228350 OTTHUMG00000156627 BM714397 NR_111921 CELSR3-AS1 HGNC:50302 +HGNC:50672 LINC02587 long intergenic non-protein coding RNA 2587 non-coding RNA RNA, long non-coding Approved 7p21.2 07p21.2 MEOX2-AS1 MEOX2 antisense RNA 1 (head to head) Long intergenic non-protein coding RNAs 1986 2014-06-05 2018-03-23 2018-03-23 2018-03-23 101927524 ENSG00000229108 OTTHUMG00000152388 NR_110094 MEOX2-AS1 HGNC:50672 +HGNC:53859 LINC02589 long intergenic non-protein coding RNA 2589 non-coding RNA RNA, long non-coding Approved Xq22.2 Xq22.2 Long intergenic non-protein coding RNAs 1986 2018-04-26 2018-04-26 105373300 NR_131236 HGNC:53859 +HGNC:53861 LINC02590 long intergenic non-protein coding RNA 2590 non-coding RNA RNA, long non-coding Approved 2p21 02p21 AC016735.2 Long intergenic non-protein coding RNAs 1986 2018-04-27 2018-04-27 112441441 ENSG00000233978 29693709 +HGNC:53901 LINC02591 long intergenic non-protein coding RNA 2591 non-coding RNA RNA, long non-coding Approved 1q21.1 01q21.1 Long intergenic non-protein coding RNAs 1986 2018-05-17 2018-06-06 388692 ENSG00000263590 OTTHUMG00000041568 NR_111933 HGNC:53901 +HGNC:53933 LINC02593 long intergenic non-protein coding RNA 2593 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 AL645608.1 Long intergenic non-protein coding RNAs 1986 2018-06-15 2018-06-15 100130417 ENSG00000223764 OTTHUMG00000040718 NR_026874 29707762 HGNC:53933 +HGNC:53935 LINC02594 long intergenic non-protein coding RNA 2594 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Long intergenic non-protein coding RNAs 1986 2018-06-15 2018-06-15 105371786 ENSG00000267440 OTTHUMG00000180886 XR_001752893 29700972 HGNC:53935 +HGNC:53946 LINC02595 long intergenic non-protein coding RNA 2595 non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 Long intergenic non-protein coding RNAs 1986 2018-06-20 2018-06-20 401585 ENSG00000231566 OTTHUMG00000021411 AK098783 NR_125365 29590393 HGNC:53946 +HGNC:53948 LINC02596 long intergenic non-protein coding RNA 2596 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 LOC105376834 Long intergenic non-protein coding RNAs 1986 2018-06-20 2018-06-20 105376834 ENSG00000233431 OTTHUMG00000037843 XR_947046 29568943 HGNC:53948 +HGNC:53950 LINC02597 long intergenic non-protein coding RNA 2597 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 LOC101929866 Long intergenic non-protein coding RNAs 1986 2018-06-20 2018-06-20 101929866 XR_001754625 29568943 HGNC:53950 +HGNC:53954 LINC02598 long intergenic non-protein coding RNA 2598 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 "RP11|277P12.9" Long intergenic non-protein coding RNAs 1986 2018-06-20 2018-06-20 112588022 ENSG00000256155 OTTHUMG00000168573 NR_170217 29568882 +HGNC:53931 LINC02599 long intergenic non-protein coding RNA 2599 non-coding RNA RNA, long non-coding Approved 8q11.21 08q11.21 AC026904.1 Long intergenic non-protein coding RNAs 1986 2018-06-27 2018-06-27 113523635 ENSG00000233858 OTTHUMG00000141277 29774079 +HGNC:53177 LINC02600 long intergenic non-protein coding RNA 2600 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 AC141928.1 Long intergenic non-protein coding RNAs 1986 2018-06-29 2018-06-29 107986251 ENSG00000250986 OTTHUMG00000159831 29436261 HGNC:53177 +HGNC:53966 LINC02601 long intergenic non-protein coding RNA 2601 non-coding RNA RNA, long non-coding Approved Xp11.4 Xp11.4 Long intergenic non-protein coding RNAs 1986 2018-07-05 2018-07-05 105373185 ENSG00000223714 OTTHUMG00000021366 NR_135616 29959764 HGNC:53966 +HGNC:53968 LINC02602 long intergenic non-protein coding RNA 2602 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 TCONS_00001798 Long intergenic non-protein coding RNAs 1986 2018-07-05 2018-07-05 107985257 XR_001738444 29564001 HGNC:53968 +HGNC:37186 LINC02603 long intergenic non-protein coding RNA 2603 non-coding RNA RNA, long non-coding Approved 9q22.32 09q22.32 MIRLET7DHG "MIRLET7D host gene (non-protein coding)|MIRLET7D host gene" Long intergenic non-protein coding RNAs 1986 2011-09-01 2018-07-18 2018-07-18 2018-07-18 158257 ENSG00000230262 OTTHUMG00000020259 uc004auk.5 NR_046163 15364901 MIRLET7DHG HGNC:37186 +HGNC:53972 LINC02604 long intergenic non-protein coding RNA 2604 non-coding RNA RNA, long non-coding Approved 7q11.21 07q11.21 lncHERG highly expressed long noncoding RNA in glioblastoma Long intergenic non-protein coding RNAs 1986 2018-07-26 2018-07-26 644794 ENSG00000273142 OTTHUMG00000186265 NR_136637 29296221 HGNC:53972 +HGNC:53974 LINC02605 long intergenic non-protein coding RNA 2605 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 "RP11-79H23.3|IL-7|AS" Long intergenic non-protein coding RNAs 1986 2018-07-27 2019-08-07 112935892 ENSG00000261618 OTTHUMG00000173421 NR_157588 31383742 HGNC:53974 +HGNC:54047 LINC02606 long intergenic non-protein coding RNA 2606 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 Long intergenic non-protein coding RNAs 1986 2018-09-26 2018-09-26 100506022 ENSG00000284693 NR_104622 HGNC:54047 +HGNC:54049 LINC02607 long intergenic non-protein coding RNA 2607 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Long intergenic non-protein coding RNAs 1986 2018-09-26 2018-09-26 100996635 ENSG00000228971 NR_110621 HGNC:54049 +HGNC:54052 LINC02608 long intergenic non-protein coding RNA 2608 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Long intergenic non-protein coding RNAs 1986 2018-09-26 2018-09-26 101929541 ENSG00000226251 OTTHUMG00000037132 NR_125984 HGNC:54052 +HGNC:27140 LINC02609 long intergenic non-protein coding RNA 2609 non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 Long intergenic non-protein coding RNAs 1986 2018-09-26 2018-09-26 105378853 ENSG00000233593 OTTHUMG00000010018 NR_135038 HGNC:27140 +HGNC:27177 LINC02610 long intergenic non-protein coding RNA 2610 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2018-09-26 2018-09-26 151174 ENSG00000186235 OTTHUMG00000152898 AK057399 NR_026925 HGNC:27177 +HGNC:54060 LINC02611 long intergenic non-protein coding RNA 2611 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 Long intergenic non-protein coding RNAs 1986 2018-09-27 2018-09-27 101927070 ENSG00000226791 NR_126337 HGNC:54060 +HGNC:54067 LINC02612 long intergenic non-protein coding RNA 2612 non-coding RNA RNA, long non-coding Approved 2q23.3 02q23.3 Long intergenic non-protein coding RNAs 1986 2018-09-27 2018-09-27 101929282 ENSG00000224048 NR_110244 HGNC:54067 +HGNC:54068 LINC02613 long intergenic non-protein coding RNA 2613 non-coding RNA RNA, long non-coding Approved 2p22.1 02p22.1 Long intergenic non-protein coding RNAs 1986 2018-09-27 2018-09-27 101929596 ENSG00000231367 NR_110259 HGNC:54068 +HGNC:54072 LINC02614 long intergenic non-protein coding RNA 2614 non-coding RNA RNA, long non-coding Approved 3q21.2 03q21.2 Long intergenic non-protein coding RNAs 1986 2018-09-27 2018-09-27 101927056 ENSG00000241288 NR_125395 HGNC:54072 +HGNC:53402 LINC02615 long intergenic non-protein coding RNA 2615 non-coding RNA RNA, long non-coding Approved 4q28.2 04q28.2 Long intergenic non-protein coding RNAs 1986 2018-09-28 2018-09-28 100507487 ENSG00000251432 OTTHUMG00000161321 NR_125882 HGNC:53402 +HGNC:54078 LINC02616 long intergenic non-protein coding RNA 2616 non-coding RNA RNA, long non-coding Approved 4p14 04p14 Long intergenic non-protein coding RNAs 1986 2018-09-28 2018-09-28 100508631 ENSG00000261761 NR_134669 HGNC:54078 +HGNC:54089 LINC02617 long intergenic non-protein coding RNA 2617 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 ENST00000539009 Long intergenic non-protein coding RNAs 1986 2018-10-25 2018-10-25 113523642 ENSG00000256288 NR_159946 25921151 HGNC:54089 +HGNC:54091 LINC02618 long intergenic non-protein coding RNA 2618 non-coding RNA RNA, long non-coding Approved 3q23 03q23 Long intergenic non-protein coding RNAs 1986 2018-11-04 2018-11-04 646730 ENSG00000242104 OTTHUMG00000159357 NR_136190 RGD:7718778 HGNC:54091 +HGNC:54094 LINC02619 long intergenic non-protein coding RNA 2619 non-coding RNA RNA, long non-coding Approved 4q13.1 04q13.1 Long intergenic non-protein coding RNAs 1986 2018-11-04 2018-11-04 105377245 ENSG00000249382 NR_133939 HGNC:54094 +HGNC:54097 LINC02620 long intergenic non-protein coding RNA 2620 non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 BCRT1 breast cancer-related transcript 1 Long intergenic non-protein coding RNAs 1986 2018-11-23 2020-08-05 101927523 ENSG00000225768 OTTHUMG00000019008 NR_120624 32384893 HGNC:54097 +HGNC:54098 LINC02621 long intergenic non-protein coding RNA 2621 non-coding RNA RNA, long non-coding Approved 10q21.2 10q21.2 Long intergenic non-protein coding RNAs 1986 2018-11-28 2018-11-28 105378325 ENSG00000234756 HGNC:54098 +HGNC:54099 LINC02622 long intergenic non-protein coding RNA 2622 non-coding RNA RNA, long non-coding Approved 10q22.1 10q22.1 Long intergenic non-protein coding RNAs 1986 2018-11-28 2018-11-29 105378349 ENSG00000259267 NR_134313 HGNC:54099 +HGNC:54101 LINC02623 long intergenic non-protein coding RNA 2623 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 Long intergenic non-protein coding RNAs 1986 2018-11-29 2018-11-29 101929445 ENSG00000234944 NR_134479 HGNC:54101 +HGNC:54103 LINC02624 long intergenic non-protein coding RNA 2624 non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 Long intergenic non-protein coding RNAs 1986 2018-11-29 2018-11-29 105378470 ENSG00000229775 NR_134330 HGNC:54103 +HGNC:54104 LINC02625 long intergenic non-protein coding RNA 2625 non-coding RNA RNA, long non-coding Approved 10q21.2 10q21.2 Long intergenic non-protein coding RNAs 1986 2018-11-29 2018-11-29 107984237 ENSG00000233643 XR_001747458 HGNC:54104 +HGNC:54105 LINC02626 long intergenic non-protein coding RNA 2626 non-coding RNA RNA, long non-coding Approved 10q25.3 10q25.3 Long intergenic non-protein coding RNAs 1986 2018-11-29 2018-11-29 102724589 ENSG00000236799 NR_120677 HGNC:54105 +HGNC:54106 LINC02627 long intergenic non-protein coding RNA 2627 non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 Long intergenic non-protein coding RNAs 1986 2018-11-29 2018-11-29 101927549 ENSG00000229466 NR_120625 HGNC:54106 +HGNC:54107 LINC02628 long intergenic non-protein coding RNA 2628 non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 Long intergenic non-protein coding RNAs 1986 2018-11-29 2018-11-29 105376490 ENSG00000226412 XR_002957052 HGNC:54107 +HGNC:54108 LINC02629 long intergenic non-protein coding RNA 2629 non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 TCONS_00017811 Long intergenic non-protein coding RNAs 1986 2018-11-29 2018-11-29 114515519 ENSG00000223470 NR_170279 +HGNC:54110 LINC02630 long intergenic non-protein coding RNA 2630 non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 Long intergenic non-protein coding RNAs 1986 2018-11-29 2018-11-29 105376495 ENSG00000227313 XR_930822 HGNC:54110 +HGNC:54112 LINC02631 long intergenic non-protein coding RNA 2631 non-coding RNA RNA, long non-coding Approved 2q22.1 02q22.1 AC092620.3 Long intergenic non-protein coding RNAs 1986 2018-11-30 2018-11-30 114515520 ENSG00000237772 NR_174957 30476843 +HGNC:54114 LINC02632 long intergenic non-protein coding RNA 2632 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 Long intergenic non-protein coding RNAs 1986 2018-11-30 2018-11-30 107984178 ENSG00000234864 XR_001747295 HGNC:54114 +HGNC:54116 LINC02633 long intergenic non-protein coding RNA 2633 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 "TCONS_00018174|XLOC_008466" Long intergenic non-protein coding RNAs 1986 2018-12-05 2021-11-18 105378270 ENSG00000224265 XR_007062128 28501870 HGNC:54116 +HGNC:54117 LINC02634 long intergenic non-protein coding RNA 2634 non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 Long intergenic non-protein coding RNAs 1986 2018-12-05 2018-12-05 105376493 ENSG00000233200 XR_007062111 HGNC:54117 +HGNC:54118 LINC02635 long intergenic non-protein coding RNA 2635 non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 Long intergenic non-protein coding RNAs 1986 2018-12-05 2018-12-05 105376491 ENSG00000283000 XR_001747418 HGNC:54118 +HGNC:54119 LINC02636 long intergenic non-protein coding RNA 2636 non-coding RNA RNA, long non-coding Approved 10q22.1 10q22.1 Long intergenic non-protein coding RNAs 1986 2018-12-05 2018-12-05 102723350 ENSG00000224222 XR_001747486 HGNC:54119 +HGNC:54120 LINC02637 long intergenic non-protein coding RNA 2637 non-coding RNA RNA, long non-coding Approved 10q11.22 10q11.22 Long intergenic non-protein coding RNAs 1986 2018-12-05 2018-12-05 102724350 ENSG00000272430 XR_007062134 HGNC:54120 +HGNC:54122 LINC02639 long intergenic non-protein coding RNA 2639 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Long intergenic non-protein coding RNAs 1986 2018-12-05 2018-12-05 105376365 ENSG00000230573 NR_134490 HGNC:54122 +HGNC:54123 LINC02640 long intergenic non-protein coding RNA 2640 non-coding RNA RNA, long non-coding Approved 10q21.3 10q21.3 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 107984241 ENSG00000233590 XR_001747481 HGNC:54123 +HGNC:54125 LINC02641 long intergenic non-protein coding RNA 2641 non-coding RNA RNA, long non-coding Approved 10q26.13 10q26.13 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 105378531 ENSG00000230131 XR_001747616 HGNC:54125 +HGNC:54124 LINC02642 long intergenic non-protein coding RNA 2642 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 105376388 ENSG00000232591 XR_001747355 HGNC:54124 +HGNC:54126 LINC02643 long intergenic non-protein coding RNA 2643 non-coding RNA RNA, long non-coding Approved 10p12.31 10p12.31 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 105376444 ENSG00000230109 NR_155751 HGNC:54126 +HGNC:54127 LINC02644 long intergenic non-protein coding RNA 2644 non-coding RNA RNA, long non-coding Approved 10p11.23 10p11.23 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 105376480 ENSG00000230720 NR_134497 HGNC:54127 +HGNC:54129 LINC02645 long intergenic non-protein coding RNA 2645 non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 105376351 ENSG00000234170 NR_136146 HGNC:54129 +HGNC:54130 LINC02646 long intergenic non-protein coding RNA 2646 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 107984002 ENSG00000236303 HGNC:54130 +HGNC:54131 LINC02647 long intergenic non-protein coding RNA 2647 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 101929646 ENSG00000223993 NR_120669 HGNC:54131 +HGNC:54132 LINC02648 long intergenic non-protein coding RNA 2648 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 101928150 ENSG00000225948 NR_120634 HGNC:54132 +HGNC:54134 LINC02649 long intergenic non-protein coding RNA 2649 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 399715 ENSG00000215244 NR_040079 HGNC:54134 +HGNC:54135 LINC02650 long intergenic non-protein coding RNA 2650 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 105378397 ENSG00000233945 NR_134317 HGNC:54135 +HGNC:54136 LINC02651 long intergenic non-protein coding RNA 2651 non-coding RNA RNA, long non-coding Approved 10q22.1 10q22.1 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 105378346 ENSG00000235645 XR_946038 HGNC:54136 +HGNC:54137 LINC02652 long intergenic non-protein coding RNA 2652 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 105376468 ENSG00000237128 NR_134496 HGNC:54137 +HGNC:54138 LINC02653 long intergenic non-protein coding RNA 2653 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 101926942 ENSG00000236373 NR_110657 HGNC:54138 +HGNC:54140 LINC02654 long intergenic non-protein coding RNA 2654 non-coding RNA RNA, long non-coding Approved 10p13 10p13 Long intergenic non-protein coding RNAs 1986 2018-12-06 2018-12-06 102724039 ENSG00000226140 XR_428677 HGNC:54140 +HGNC:54141 LINC02655 long intergenic non-protein coding RNA 2655 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 105378386 ENSG00000231082 NR_155749 HGNC:54141 +HGNC:54142 LINC02656 long intergenic non-protein coding RNA 2656 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 399716 ENSG00000212743 NR_148966 HGNC:54142 +HGNC:54144 LINC02658 long intergenic non-protein coding RNA 2658 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 102724264 ENSG00000234973 NR_134483 HGNC:54144 +HGNC:54145 LINC02659 long intergenic non-protein coding RNA 2659 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 105378277 ENSG00000236769 XR_007062367 HGNC:54145 +HGNC:54146 LINC02660 long intergenic non-protein coding RNA 2660 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 101927904 ENSG00000226005 XR_002957059 HGNC:54146 +HGNC:54147 LINC02661 long intergenic non-protein coding RNA 2661 non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 105378478 ENSG00000223381 XR_002957054 HGNC:54147 +HGNC:54148 LINC02662 long intergenic non-protein coding RNA 2662 non-coding RNA RNA, long non-coding Approved 10p15.3 10p15.3 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 105376348 ENSG00000231326 XR_930542 HGNC:54148 +HGNC:54149 LINC02663 long intergenic non-protein coding RNA 2663 non-coding RNA RNA, long non-coding Approved 10p14 10p14 XLOC_008466 Long intergenic non-protein coding RNAs 1986 2018-12-07 2021-11-15 105376402 ENSG00000228636 XR_001747363 28501870 HGNC:54149 +HGNC:54150 LINC02664 long intergenic non-protein coding RNA 2664 non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 101929352 ENSG00000272381 NR_134478 HGNC:54150 +HGNC:54151 LINC02665 long intergenic non-protein coding RNA 2665 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 105376386 ENSG00000223581 XR_930622 HGNC:54151 +HGNC:54152 LINC02666 long intergenic non-protein coding RNA 2666 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 107984280 ENSG00000283141 HGNC:54152 +HGNC:54153 LINC02667 long intergenic non-protein coding RNA 2667 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 728327 ENSG00000224190 NR_148990 HGNC:54153 +HGNC:54154 LINC02668 long intergenic non-protein coding RNA 2668 non-coding RNA RNA, long non-coding Approved 10p15.2 10p15.2 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 105376354 ENSG00000226762 XR_001747317 HGNC:54154 +HGNC:54155 LINC02669 long intergenic non-protein coding RNA 2669 non-coding RNA RNA, long non-coding Approved 10p15.2 10p15.2 Long intergenic non-protein coding RNAs 1986 2018-12-07 2018-12-07 101927880 ENSG00000233321 NR_155743 HGNC:54155 +HGNC:54156 LINC02670 long intergenic non-protein coding RNA 2670 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Long intergenic non-protein coding RNAs 1986 2018-12-10 2018-12-10 101928298 ENSG00000224788 NR_120636 HGNC:54156 +HGNC:54158 LINC02671 long intergenic non-protein coding RNA 2671 non-coding RNA RNA, long non-coding Approved 10q21.3 10q21.3 Long intergenic non-protein coding RNAs 1986 2018-12-10 2018-12-10 101928887 ENSG00000224714 NR_134456 HGNC:54158 +HGNC:54159 LINC02672 long intergenic non-protein coding RNA 2672 non-coding RNA RNA, long non-coding Approved 10q21.1 10q21.1 Long intergenic non-protein coding RNAs 1986 2018-12-10 2018-12-10 105378309 ENSG00000227121 HGNC:54159 +HGNC:54167 LINC02673 long intergenic non-protein coding RNA 2673 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Long intergenic non-protein coding RNAs 1986 2018-12-19 2018-12-19 101929180 ENSG00000260151 XR_242744 HGNC:54167 +HGNC:54168 LINC02674 long intergenic non-protein coding RNA 2674 non-coding RNA RNA, long non-coding Approved 10q26.11 10q26.11 Long intergenic non-protein coding RNAs 1986 2018-12-19 2018-12-19 102724627 ENSG00000234952 XR_001747601 HGNC:54168 +HGNC:54169 LINC02675 long intergenic non-protein coding RNA 2675 non-coding RNA RNA, long non-coding Approved 10q11.22 10q11.22 Long intergenic non-protein coding RNAs 1986 2019-01-04 2019-01-04 112267862 ENSG00000264404 XR_428749 HGNC:54169 +HGNC:54170 LINC02676 long intergenic non-protein coding RNA 2676 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Long intergenic non-protein coding RNAs 1986 2019-01-04 2019-01-04 105755953 ENSG00000234752 NR_131944 HGNC:54170 +HGNC:54171 LINC02677 long intergenic non-protein coding RNA 2677 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Long intergenic non-protein coding RNAs 1986 2019-01-04 2019-01-04 102723629 ENSG00000228951 XR_001747276 HGNC:54171 +HGNC:54172 LINC02678 long intergenic non-protein coding RNA 2678 non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 Long intergenic non-protein coding RNAs 1986 2019-01-04 2019-01-04 105376383 ENSG00000231483 XR_001747275 HGNC:54172 +HGNC:54173 LINC02679 long intergenic non-protein coding RNA 2679 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Long intergenic non-protein coding RNAs 1986 2019-01-04 2019-01-04 105378385 ENSG00000226676 NR_134315 HGNC:54173 +HGNC:54174 LINC02680 long intergenic non-protein coding RNA 2680 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Long intergenic non-protein coding RNAs 1986 2019-01-04 2019-01-04 105376463 ENSG00000285737 XR_007062094 HGNC:54174 +HGNC:54175 LINC02681 long intergenic non-protein coding RNA 2681 non-coding RNA RNA, long non-coding Approved 10q24.32 10q24.32 Long intergenic non-protein coding RNAs 1986 2019-01-04 2019-01-04 101927419 ENSG00000229649 NR_120621 HGNC:54175 +HGNC:54177 LINC02682 long intergenic non-protein coding RNA 2682 non-coding RNA RNA, long non-coding Approved 11p15.2 11p15.2 "TCONS_00019584|lnc-SOX6-1" Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105376570 ENSG00000254661 XR_931078 30624855 HGNC:54177 +HGNC:54179 LINC02683 long intergenic non-protein coding RNA 2683 non-coding RNA RNA, long non-coding Approved 11p15.2 11p15.2 Long intergenic non-protein coding RNAs 1986 2019-02-14 2019-02-14 101928132 ENSG00000254438 NR_135052 HGNC:54179 +HGNC:54180 LINC02684 long intergenic non-protein coding RNA 2684 non-coding RNA RNA, long non-coding Approved 11q25 11q25 Long intergenic non-protein coding RNAs 1986 2019-02-14 2019-02-14 105369589 ENSG00000255512 XR_002957215 HGNC:54180 +HGNC:27350 LINC02685 long intergenic non-protein coding RNA 2685 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Long intergenic non-protein coding RNAs 1986 2019-02-21 2019-02-21 221122 ENSG00000254654 NR_026681 HGNC:27350 +HGNC:54186 LINC02686 long intergenic non-protein coding RNA 2686 non-coding RNA RNA, long non-coding Approved 11p14.3 11p14.3 Long intergenic non-protein coding RNAs 1986 2019-02-21 2019-02-21 105376594 ENSG00000254594 XR_002957216 HGNC:54186 +HGNC:54187 LINC02687 long intergenic non-protein coding RNA 2687 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Long intergenic non-protein coding RNAs 1986 2019-02-21 2019-02-21 399886 ENSG00000255267 NR_122071 HGNC:54187 +HGNC:54184 LINC02688 long intergenic non-protein coding RNA 2688 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Long intergenic non-protein coding RNAs 1986 2019-02-21 2019-02-21 101927503 ENSG00000254872 NR_160890 HGNC:54184 +HGNC:54192 LINC02689 long intergenic non-protein coding RNA 2689 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Long intergenic non-protein coding RNAs 1986 2019-02-28 2019-02-28 105376513 ENSG00000285985 XR_001748092 HGNC:54192 +HGNC:54194 LINC02690 long intergenic non-protein coding RNA 2690 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Long intergenic non-protein coding RNAs 1986 2019-02-28 2019-02-28 105376658 ENSG00000255226 XR_931249 HGNC:54194 +HGNC:20358 LINC02691 long intergenic non-protein coding RNA 2691 non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 C14orf144 "chromosome 14 open reading frame 144|chromosome 14 open reading frame 144 (putative)" Long intergenic non-protein coding RNAs 1986 2003-01-28 2019-03-01 2019-03-01 2020-06-15 145195 ENSG00000258913 BC007749 NR_146611 HGNC:20358 +HGNC:18147 LINC02692 long intergenic non-protein coding RNA 2692 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 "C9orf141|PRR31" "chromosome 9 open reading frame 141|proline rich 31" Long intergenic non-protein coding RNAs 1986 2007-08-02 2019-03-06 2019-03-06 2020-06-15 101928638 ENSG00000198454 OTTHUMG00000020969 NR_157392 HGNC:18147 +HGNC:27904 LINC02693 long intergenic non-protein coding RNA 2693 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 "FLJ12977|FLJ31874|FLJ33618" C17orf51 chromosome 17 open reading frame 51 Long intergenic non-protein coding RNAs 1986 2005-12-13 2019-04-03 2019-04-03 2019-04-03 339263 ENSG00000212719 OTTHUMG00000186498 uc002gyw.5 BC010612 NR_160801 A8MQB3 HGNC:27904 +HGNC:33796 LINC02694 long intergenic non-protein coding RNA 2694 non-coding RNA RNA, long non-coding Approved 15q14 15q14 FLJ35695 C15orf53 chromosome 15 open reading frame 53 Long intergenic non-protein coding RNAs 1986 2007-11-21 2019-04-03 2019-04-03 2019-04-03 400359 ENSG00000175779 OTTHUMG00000129841 uc001zkf.1 NR_160786 Q8NAA6 HGNC:33796 +HGNC:54209 LINC02695 long intergenic non-protein coding RNA 2695 non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 Long intergenic non-protein coding RNAs 1986 2019-04-09 2019-04-09 107984426 ENSG00000254699 XR_001748524 HGNC:54209 +HGNC:54210 LINC02696 long intergenic non-protein coding RNA 2696 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Long intergenic non-protein coding RNAs 1986 2019-04-09 2019-04-09 101928812 ENSG00000254427 NR_120557 HGNC:54210 +HGNC:54211 LINC02697 long intergenic non-protein coding RNA 2697 non-coding RNA RNA, long non-coding Approved 11q25 11q25 Long intergenic non-protein coding RNAs 1986 2019-04-09 2019-04-09 105369586 ENSG00000255327 XR_948216 HGNC:54211 +HGNC:54212 LINC02698 long intergenic non-protein coding RNA 2698 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Long intergenic non-protein coding RNAs 1986 2019-04-09 2019-04-09 105369512 ENSG00000256717 XR_001748394 HGNC:54212 +HGNC:54213 LINC02699 long intergenic non-protein coding RNA 2699 non-coding RNA RNA, long non-coding Approved 11p14.3 11p14.3 Long intergenic non-protein coding RNAs 1986 2019-04-09 2019-04-09 105376596 ENSG00000254456 XR_931132 HGNC:54213 +HGNC:54214 LINC02700 long intergenic non-protein coding RNA 2700 non-coding RNA RNA, long non-coding Approved 11q21 11q21 Long intergenic non-protein coding RNAs 1986 2019-04-09 2019-04-09 105369436 ENSG00000255666 XR_007062841 HGNC:54214 +HGNC:54216 LINC02701 long intergenic non-protein coding RNA 2701 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Long intergenic non-protein coding RNAs 1986 2019-04-09 2019-04-09 105369364 ENSG00000250508 XR_950253 HGNC:54216 +HGNC:54217 LINC02702 long intergenic non-protein coding RNA 2702 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Long intergenic non-protein coding RNAs 1986 2019-04-09 2019-04-09 101929011 ENSG00000237937 NR_135069 HGNC:54217 +HGNC:54218 LINC02703 long intergenic non-protein coding RNA 2703 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Long intergenic non-protein coding RNAs 1986 2019-04-09 2019-04-09 102724165 ENSG00000257067 XR_001748396 HGNC:54218 +HGNC:54220 LINC02704 long intergenic non-protein coding RNA 2704 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Long intergenic non-protein coding RNAs 1986 2019-04-10 2019-04-10 105376647 ENSG00000255079 XR_007062658 HGNC:54220 +HGNC:54222 LINC02705 long intergenic non-protein coding RNA 2705 non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369319 ENSG00000254952 XR_950141 HGNC:54222 +HGNC:54223 LINC02706 long intergenic non-protein coding RNA 2706 non-coding RNA RNA, long non-coding Approved 11q25 11q25 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369584 ENSG00000255344 XR_948213 HGNC:54223 +HGNC:54224 LINC02707 long intergenic non-protein coding RNA 2707 non-coding RNA RNA, long non-coding Approved 11p13 11p13 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-05-16 105376623 ENSG00000255427 OTTHUMG00000166453 XR_931181 HGNC:54224 +HGNC:54225 LINC02708 long intergenic non-protein coding RNA 2708 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 100505570 ENSG00000227306 XR_001756578 HGNC:54225 +HGNC:54226 LINC02709 long intergenic non-protein coding RNA 2709 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 440028 ENSG00000245522 NR_033972 HGNC:54226 +HGNC:54227 LINC02710 long intergenic non-protein coding RNA 2710 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105376662 ENSG00000255269 XR_931253 HGNC:54227 +HGNC:54228 LINC02711 long intergenic non-protein coding RNA 2711 non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369423 ENSG00000255183 NR_135090 HGNC:54228 +HGNC:54229 LINC02712 long intergenic non-protein coding RNA 2712 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 101929497 ENSG00000273409 NR_120580 HGNC:54229 +HGNC:54230 LINC02713 long intergenic non-protein coding RNA 2713 non-coding RNA RNA, long non-coding Approved 11q22.1 11q22.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 2019-04-24 105369454 ENSG00000255502 XR_001748076 HGNC:54230 +HGNC:54231 LINC02714 long intergenic non-protein coding RNA 2714 non-coding RNA RNA, long non-coding Approved 11q25 11q25 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 729305 ENSG00000251226 NR_147836 HGNC:54231 +HGNC:54232 LINC02715 long intergenic non-protein coding RNA 2715 non-coding RNA RNA, long non-coding Approved 11q22.3 11q22.3 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369482 ENSG00000254659 XR_001748368 HGNC:54232 +HGNC:25454 LINC02716 long intergenic non-protein coding RNA 2716 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 374387 ENSG00000205106 NR_027134 HGNC:25454 +HGNC:54234 LINC02717 long intergenic non-protein coding RNA 2717 non-coding RNA RNA, long non-coding Approved 11q25 11q25 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369588 ENSG00000285735 XR_948218 HGNC:54234 +HGNC:54235 LINC02718 long intergenic non-protein coding RNA 2718 non-coding RNA RNA, long non-coding Approved 11p14.3 11p14.3 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105376592 ENSG00000255418 XR_007062624 HGNC:54235 +HGNC:54236 LINC02719 long intergenic non-protein coding RNA 2719 non-coding RNA RNA, long non-coding Approved 11q22.3 11q22.3 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369473 ENSG00000254580 NR_135099 HGNC:54236 +HGNC:54237 LINC02720 long intergenic non-protein coding RNA 2720 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 101928944 ENSG00000255178 NR_120570 HGNC:54237 +HGNC:54238 LINC02721 long intergenic non-protein coding RNA 2721 non-coding RNA RNA, long non-coding Approved 11p13 11p13 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105376620 ENSG00000255133 XR_931174 HGNC:54238 +HGNC:54239 LINC02722 long intergenic non-protein coding RNA 2722 non-coding RNA RNA, long non-coding Approved 11p13 11p13 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105376619 ENSG00000255169 XR_001748172 HGNC:54239 +HGNC:54240 LINC02723 long intergenic non-protein coding RNA 2723 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 107984366 ENSG00000231680 XR_001748068 HGNC:54240 +HGNC:54241 LINC02724 long intergenic non-protein coding RNA 2724 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 100996455 ENSG00000181908 NR_073177 HGNC:54241 +HGNC:54242 LINC02725 long intergenic non-protein coding RNA 2725 non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369563 ENSG00000273415 XR_007062942 HGNC:54242 +HGNC:54243 LINC02726 long intergenic non-protein coding RNA 2726 non-coding RNA RNA, long non-coding Approved 11p14.3 11p14.3 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105376593 ENSG00000255193 XR_931128 HGNC:54243 +HGNC:54244 LINC02727 long intergenic non-protein coding RNA 2727 non-coding RNA RNA, long non-coding Approved 11q24.1 11q24.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369541 ENSG00000254823 XR_948118 HGNC:54244 +HGNC:54245 LINC02728 long intergenic non-protein coding RNA 2728 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 101928865 ENSG00000251323 NR_120564 HGNC:54245 +HGNC:54246 LINC02729 long intergenic non-protein coding RNA 2729 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 102723330 ENSG00000255335 NR_132279 HGNC:54246 +HGNC:54247 LINC02730 long intergenic non-protein coding RNA 2730 non-coding RNA RNA, long non-coding Approved 11q25 11q25 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 107984414 ENSG00000255406 HGNC:54247 +HGNC:54248 LINC02731 long intergenic non-protein coding RNA 2731 non-coding RNA RNA, long non-coding Approved 11q25 11q25 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 100128239 ENSG00000204241 NR_027276 HGNC:54248 +HGNC:54249 LINC02732 long intergenic non-protein coding RNA 2732 non-coding RNA RNA, long non-coding Approved 11q22.3 11q22.3 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369486 ENSG00000254416 NR_135100 HGNC:54249 +HGNC:54250 LINC02733 long intergenic non-protein coding RNA 2733 non-coding RNA RNA, long non-coding Approved 11q12.3 11q12.3 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 100507521 ENSG00000255553 XR_110911 HGNC:54250 +HGNC:54251 LINC02734 long intergenic non-protein coding RNA 2734 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369413 ENSG00000255382 XR_007062801 HGNC:54251 +HGNC:54252 LINC02735 long intergenic non-protein coding RNA 2735 non-coding RNA RNA, long non-coding Approved 11q12.1 11q12.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 101927120 ENSG00000255433 NR_110136 HGNC:54252 +HGNC:54253 LINC02736 long intergenic non-protein coding RNA 2736 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369346 ENSG00000279243 XR_007062729 HGNC:54253 +HGNC:54254 LINC02737 long intergenic non-protein coding RNA 2737 non-coding RNA RNA, long non-coding Approved 11q21 11q21 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369443 ENSG00000256684 NR_135097 HGNC:54254 +HGNC:54256 LINC02739 long intergenic non-protein coding RNA 2739 non-coding RNA RNA, long non-coding Approved 11q12.1 11q12.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369317 ENSG00000255008 XR_001748231 HGNC:54256 +HGNC:54257 LINC02740 long intergenic non-protein coding RNA 2740 non-coding RNA RNA, long non-coding Approved 11p12 11p12 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 100507205 ENSG00000255109 NR_038309 HGNC:54257 +HGNC:54258 LINC02741 long intergenic non-protein coding RNA 2741 non-coding RNA RNA, long non-coding Approved 11p12 11p12 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105376640 ENSG00000255388 XR_001748196 HGNC:54258 +HGNC:54259 LINC02742 long intergenic non-protein coding RNA 2742 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105376603 ENSG00000249867 XR_001748158 HGNC:54259 +HGNC:54261 LINC02743 long intergenic non-protein coding RNA 2743 non-coding RNA RNA, long non-coding Approved 11q25 11q25 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 646522 ENSG00000255258 NR_120444 HGNC:54261 +HGNC:54262 LINC02744 long intergenic non-protein coding RNA 2744 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369528 ENSG00000254863 XR_007062992 HGNC:54262 +HGNC:54263 LINC02745 long intergenic non-protein coding RNA 2745 non-coding RNA RNA, long non-coding Approved 11p12 11p12 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 101928591 ENSG00000255300 NR_135065 HGNC:54263 +HGNC:54264 LINC02746 long intergenic non-protein coding RNA 2746 non-coding RNA RNA, long non-coding Approved 11q14.3 11q14.3 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369431 ENSG00000282916 NR_135091 HGNC:54264 +HGNC:54266 LINC02747 long intergenic non-protein coding RNA 2747 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 "AP000439.3|CUPID2" CCND1-upstream intergenic DNA repair 2 Long intergenic non-protein coding RNAs 1986 2019-04-24 2021-09-27 105379407 ENSG00000255774 XR_950273 "29048636|28777932|33425728" 617697 HGNC:54266 +HGNC:54267 LINC02748 long intergenic non-protein coding RNA 2748 non-coding RNA RNA, long non-coding Approved 11q14.3 11q14.3 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369427 ENSG00000255187 XR_947881 HGNC:54267 +HGNC:54268 LINC02749 long intergenic non-protein coding RNA 2749 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 100506082 ENSG00000254480 NR_047550 HGNC:54268 +HGNC:54269 LINC02750 long intergenic non-protein coding RNA 2750 non-coding RNA RNA, long non-coding Approved 11p11.12 11p11.12 Long intergenic non-protein coding RNAs 1986 2019-04-24 2019-04-24 105369150 ENSG00000254518 XR_001748213 HGNC:54269 +HGNC:54271 LINC02751 long intergenic non-protein coding RNA 2751 non-coding RNA RNA, long non-coding Approved 11p15.2 11p15.2 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 105376569 ENSG00000254946 NR_169502 HGNC:54271 +HGNC:54272 LINC02752 long intergenic non-protein coding RNA 2752 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 105376550 ENSG00000254401 XR_007062591 HGNC:54272 +HGNC:54273 LINC02753 long intergenic non-protein coding RNA 2753 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 101928443 ENSG00000248844 NR_120529 HGNC:54273 +HGNC:54274 LINC02754 long intergenic non-protein coding RNA 2754 non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 105369360 ENSG00000251637 XR_001748276 HGNC:54274 +HGNC:54275 LINC02755 long intergenic non-protein coding RNA 2755 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 105376605 ENSG00000254530 XR_931150 HGNC:54275 +HGNC:54276 LINC02756 long intergenic non-protein coding RNA 2756 non-coding RNA RNA, long non-coding Approved 11q14.3 11q14.3 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 105369428 ENSG00000255332 XR_001748324 HGNC:54276 +HGNC:54277 LINC02757 long intergenic non-protein coding RNA 2757 non-coding RNA RNA, long non-coding Approved 11q13.5 11q13.5 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 101928813 ENSG00000255363 XR_001748311 HGNC:54277 +HGNC:54278 LINC02758 long intergenic non-protein coding RNA 2758 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 105376602 ENSG00000248990 XR_002957243 HGNC:54278 +HGNC:54279 LINC02759 long intergenic non-protein coding RNA 2759 non-coding RNA RNA, long non-coding Approved 11p12 11p12 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 103312105 ENSG00000255175 NR_120554 HGNC:54279 +HGNC:54280 LINC02760 long intergenic non-protein coding RNA 2760 non-coding RNA RNA, long non-coding Approved 11p12 11p12 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 105376633 ENSG00000254516 NR_135110 HGNC:54280 +HGNC:54281 LINC02761 long intergenic non-protein coding RNA 2761 non-coding RNA RNA, long non-coding Approved 11q13.5 11q13.5 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 107984359 ENSG00000255362 XR_007062785 HGNC:54281 +HGNC:27443 LINC02762 long intergenic non-protein coding RNA 2762 non-coding RNA RNA, long non-coding Approved 11q23.1 11q23.1 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 283140 ENSG00000250303 NR_126004 HGNC:27443 +HGNC:54282 LINC02763 long intergenic non-protein coding RNA 2763 non-coding RNA RNA, long non-coding Approved 11q23.1 11q23.1 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 101928823 ENSG00000254968 NR_120559 HGNC:54282 +HGNC:54283 LINC02764 long intergenic non-protein coding RNA 2764 non-coding RNA RNA, long non-coding Approved 11q23.1 11q23.1 Long intergenic non-protein coding RNAs 1986 2019-04-26 2019-04-26 387810 ENSG00000255484 NR_104155 HGNC:54283 +HGNC:54285 LINC02765 long intergenic non-protein coding RNA 2765 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 Long intergenic non-protein coding RNAs 1986 2019-05-01 2019-05-01 105373110 ENSG00000234476 OTTHUMG00000037519 XR_001738497 HGNC:54285 +HGNC:54286 LINC02766 long intergenic non-protein coding RNA 2766 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105376744 ENSG00000229484 XR_001737780 HGNC:54286 +HGNC:54287 LINC02767 long intergenic non-protein coding RNA 2767 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105372883 ENSG00000284237 NR_167982 HGNC:54287 +HGNC:54288 LINC02768 long intergenic non-protein coding RNA 2768 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105373212 ENSG00000229291 XR_949297 HGNC:54288 +HGNC:54289 LINC02769 long intergenic non-protein coding RNA 2769 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105372891 ENSG00000259815 XR_007066853 HGNC:54289 +HGNC:54290 LINC02770 long intergenic non-protein coding RNA 2770 non-coding RNA RNA, long non-coding Approved 1q31.2 01q31.2 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 107985457 ENSG00000228215 HGNC:54290 +HGNC:54291 LINC02771 long intergenic non-protein coding RNA 2771 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105372907 ENSG00000224535 XR_922578 HGNC:54291 +HGNC:54292 LINC02772 long intergenic non-protein coding RNA 2772 non-coding RNA RNA, long non-coding Approved 1q23.1 01q23.1 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105371455 ENSG00000271736 XR_002958370 HGNC:54292 +HGNC:54293 LINC02773 long intergenic non-protein coding RNA 2773 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 102723761 ENSG00000237980 XR_007066871 HGNC:54293 +HGNC:27923 LINC02774 long intergenic non-protein coding RNA 2774 non-coding RNA RNA, long non-coding Approved 1q44 01q44 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 339529 ENSG00000226828 OTTHUMG00000040014 NR_033883 12477932 HGNC:27923 +HGNC:54294 LINC02775 long intergenic non-protein coding RNA 2775 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105372911 ENSG00000283518 XR_922584 HGNC:54294 +HGNC:54297 LINC02777 long intergenic non-protein coding RNA 2777 non-coding RNA RNA, long non-coding Approved 1p32.1 01p32.1 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105378753 ENSG00000232453 XR_001738078 HGNC:54297 +HGNC:54298 LINC02778 long intergenic non-protein coding RNA 2778 non-coding RNA RNA, long non-coding Approved 1p32.1 01p32.1 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105378760 ENSG00000238242 XR_947430 HGNC:54298 +HGNC:54299 LINC02779 long intergenic non-protein coding RNA 2779 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105372929 ENSG00000231529 HGNC:54299 +HGNC:54300 LINC02780 long intergenic non-protein coding RNA 2780 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105376673 ENSG00000284668 HGNC:54300 +HGNC:54301 LINC02781 long intergenic non-protein coding RNA 2781 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105376680 ENSG00000284674 XR_946900 HGNC:54301 +HGNC:54302 LINC02782 long intergenic non-protein coding RNA 2782 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105376681 ENSG00000231510 XR_001737776 HGNC:54302 +HGNC:54303 LINC02783 long intergenic non-protein coding RNA 2783 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 400743 ENSG00000204362 NR_148993 HGNC:54303 +HGNC:54304 LINC02784 long intergenic non-protein coding RNA 2784 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105378734 ENSG00000235741 XR_007066097 HGNC:54304 +HGNC:54305 LINC02785 long intergenic non-protein coding RNA 2785 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 107985124 ENSG00000226822 XR_001738173 HGNC:54305 +HGNC:54307 LINC02786 long intergenic non-protein coding RNA 2786 non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105378655 ENSG00000284623 XR_001737991 HGNC:54307 +HGNC:54308 LINC02787 long intergenic non-protein coding RNA 2787 non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105378852 ENSG00000229201 XR_001737796 HGNC:54308 +HGNC:54309 LINC02788 long intergenic non-protein coding RNA 2788 non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 Long intergenic non-protein coding RNAs 1986 2019-05-02 2019-05-02 105378855 ENSG00000285532 HGNC:54309 +HGNC:54310 LINC02789 long intergenic non-protein coding RNA 2789 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Long intergenic non-protein coding RNAs 1986 2019-05-03 2019-05-03 400800 ENSG00000231718 NR_147896 HGNC:54310 +HGNC:54313 LINC02790 long intergenic non-protein coding RNA 2790 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Long intergenic non-protein coding RNAs 1986 2019-05-03 2019-05-03 102723661 ENSG00000237435 NR_125991 HGNC:54313 +HGNC:54315 LINC02791 long intergenic non-protein coding RNA 2791 non-coding RNA RNA, long non-coding Approved 1p31.2 01p31.2 Long intergenic non-protein coding RNAs 1986 2019-05-03 2019-05-03 105378786 ENSG00000235446 XR_001738105 HGNC:54315 +HGNC:54316 LINC02792 long intergenic non-protein coding RNA 2792 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2019-05-03 2019-05-03 107983999 ENSG00000285462 XR_947527 HGNC:54316 +HGNC:54317 LINC02793 long intergenic non-protein coding RNA 2793 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Long intergenic non-protein coding RNAs 1986 2019-05-03 2019-05-03 105376879 ENSG00000285823 XR_947090 HGNC:54317 +HGNC:54318 LINC02794 long intergenic non-protein coding RNA 2794 non-coding RNA RNA, long non-coding Approved 1p33 01p33 Long intergenic non-protein coding RNAs 1986 2019-05-03 2019-05-03 105379778 ENSG00000226133 XR_007066068 HGNC:54318 +HGNC:54319 LINC02795 long intergenic non-protein coding RNA 2795 non-coding RNA RNA, long non-coding Approved 1p22.3 01p22.3 Long intergenic non-protein coding RNAs 1986 2019-05-03 2019-05-03 105378824 ENSG00000285210 XR_001738128 HGNC:54319 +HGNC:27918 LINC02796 long intergenic non-protein coding RNA 2796 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2019-05-09 2019-05-09 339468 ENSG00000227016 XR_007066168 HGNC:27918 +HGNC:54320 LINC02797 long intergenic non-protein coding RNA 2797 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Long intergenic non-protein coding RNAs 1986 2019-05-09 2019-05-09 105378799 ENSG00000285808 XR_001737674 HGNC:54320 +HGNC:54323 LINC02798 long intergenic non-protein coding RNA 2798 non-coding RNA RNA, long non-coding Approved 1p11.2 01p11.2 Long intergenic non-protein coding RNAs 1986 2019-05-09 2019-05-16 107985194 ENSG00000227082 XM_047438021 HGNC:54323 +HGNC:54324 LINC02799 long intergenic non-protein coding RNA 2799 non-coding RNA RNA, long non-coding Approved 1q21.1 01q21.1 Long intergenic non-protein coding RNAs 1986 2019-05-09 2019-05-09 112268275 ENSG00000235887 XR_002958629 HGNC:54324 +HGNC:27642 LINC02800 long intergenic non-protein coding RNA 2800 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Long intergenic non-protein coding RNAs 1986 2019-05-09 2019-05-09 284632 ENSG00000230023 OTTHUMG00000003038 NR_027087 HGNC:27642 +HGNC:54325 LINC02801 long intergenic non-protein coding RNA 2801 non-coding RNA RNA, long non-coding Approved 1p22.3 01p22.3 Long intergenic non-protein coding RNAs 1986 2019-05-09 2019-05-09 101927844 ENSG00000284240 NR_167752 HGNC:54325 +HGNC:54326 LINC02802 long intergenic non-protein coding RNA 2802 non-coding RNA RNA, long non-coding Approved 1q21.1 01q21.1 Long intergenic non-protein coding RNAs 1986 2019-05-09 2022-02-22 100996732 ENSG00000232527 XR_159162 35163581 HGNC:54326 +HGNC:54328 LINC02803 long intergenic non-protein coding RNA 2803 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 Long intergenic non-protein coding RNAs 1986 2019-05-09 2019-05-09 107985228 ENSG00000227740 XR_001738304 HGNC:54328 +HGNC:54338 LINC02804 long intergenic non-protein coding RNA 2804 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105371228 ENSG00000274372 XR_002958605 HGNC:54338 +HGNC:54339 LINC02805 long intergenic non-protein coding RNA 2805 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 100505824 ENSG00000232265 NR_135559 HGNC:54339 +HGNC:27628 LINC02806 long intergenic non-protein coding RNA 2806 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 284561 ENSG00000238107 XR_001737736 HGNC:27628 +HGNC:54340 LINC02808 long intergenic non-protein coding RNA 2808 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105378712 ENSG00000284696 XR_001737634 HGNC:54340 +HGNC:54341 LINC02809 long intergenic non-protein coding RNA 2809 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 100506571 ENSG00000276255 NR_158166 HGNC:54341 +HGNC:54342 LINC02810 long intergenic non-protein coding RNA 2810 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 107984028 ENSG00000236648 XR_002958656 HGNC:54342 +HGNC:54343 LINC02811 long intergenic non-protein coding RNA 2811 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 107985740 ENSG00000284678 HGNC:54343 +HGNC:54344 LINC02812 long intergenic non-protein coding RNA 2812 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 107984957 ENSG00000230138 XR_001738058 HGNC:54344 +HGNC:54345 LINC02813 long intergenic non-protein coding RNA 2813 non-coding RNA RNA, long non-coding Approved 1q42.12 01q42.12 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 107985338 ENSG00000225334 XR_001738495 HGNC:54345 +HGNC:54346 LINC02814 long intergenic non-protein coding RNA 2814 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 112267873 ENSG00000236975 HGNC:54346 +HGNC:54347 LINC02815 long intergenic non-protein coding RNA 2815 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105373158 ENSG00000282111 XR_002958487 HGNC:54347 +HGNC:54348 LINC02816 long intergenic non-protein coding RNA 2816 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105371638 ENSG00000225857 HGNC:54348 +HGNC:32042 LINC02817 long intergenic non-protein coding RNA 2817 non-coding RNA RNA, long non-coding Approved 1q41 01q41 FLJ46636 C1orf140 chromosome 1 open reading frame 140 Long intergenic non-protein coding RNAs 1986 2005-07-08 2019-05-15 400804 ENSG00000234754 OTTHUMG00000037427 AK128488 NR_024236 HGNC:32042 +HGNC:54349 LINC02818 long intergenic non-protein coding RNA 2818 non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 107985229 ENSG00000231966 XR_001738312 HGNC:54349 +HGNC:54350 LINC02819 long intergenic non-protein coding RNA 2819 non-coding RNA RNA, long non-coding Approved 1q23.2 01q23.2 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105371462 ENSG00000224943 XR_007069449 HGNC:54350 +HGNC:54351 LINC02820 long intergenic non-protein coding RNA 2820 non-coding RNA RNA, long non-coding Approved 12q21.31 12q21.31 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105369876 ENSG00000258815 XR_001749236 HGNC:54351 +HGNC:54352 LINC02821 long intergenic non-protein coding RNA 2821 non-coding RNA RNA, long non-coding Approved 12q15 12q15 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105369826 ENSG00000257139 XR_945070 HGNC:54352 +HGNC:54353 LINC02822 long intergenic non-protein coding RNA 2822 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 102724834 ENSG00000286021 XR_007063577 HGNC:54353 +HGNC:54354 LINC02823 long intergenic non-protein coding RNA 2823 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105369897 ENSG00000258100 XR_001749249 HGNC:54354 +HGNC:54356 LINC02824 long intergenic non-protein coding RNA 2824 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105370060 ENSG00000255998 XR_001749385 HGNC:54356 +HGNC:27477 LINC02825 long intergenic non-protein coding RNA 2825 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 283435 ENSG00000256494 NR_147498 HGNC:27477 +HGNC:54357 LINC02826 long intergenic non-protein coding RNA 2826 non-coding RNA RNA, long non-coding Approved 12q24.32 12q24.32 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105370057 ENSG00000275212 XR_001749368 HGNC:54357 +HGNC:54358 LINC02827 long intergenic non-protein coding RNA 2827 non-coding RNA RNA, long non-coding Approved 12p13.32 12p13.32 Long intergenic non-protein coding RNAs 1986 2019-05-15 2019-05-15 105369606 ENSG00000236908 XR_007063162 HGNC:54358 +HGNC:54359 LINC02828 long intergenic non-protein coding RNA 2828 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105374978 ENSG00000224164 XR_926603 HGNC:54359 +HGNC:54362 LINC02829 long intergenic non-protein coding RNA 2829 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375009 ENSG00000229274 XR_926678 HGNC:54362 +HGNC:54363 LINC02830 long intergenic non-protein coding RNA 2830 non-coding RNA RNA, long non-coding Approved 7q31.33 07q31.33 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375486 ENSG00000224899 XR_927931 HGNC:54363 +HGNC:54365 LINC02831 long intergenic non-protein coding RNA 2831 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 102724373 ENSG00000224173 XR_001739521 HGNC:54365 +HGNC:54366 LINC02832 long intergenic non-protein coding RNA 2832 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105373886 ENSG00000227308 HGNC:54366 +HGNC:54367 LINC02833 long intergenic non-protein coding RNA 2833 non-coding RNA RNA, long non-coding Approved 14q32.12 14q32.12 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105370629 ENSG00000258742 XR_007064311 HGNC:54367 +HGNC:54368 LINC02834 long intergenic non-protein coding RNA 2834 non-coding RNA RNA, long non-coding Approved 9q21.33 09q21.33 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105376124 ENSG00000285686 XR_930069 HGNC:54368 +HGNC:54369 LINC02835 long intergenic non-protein coding RNA 2835 non-coding RNA RNA, long non-coding Approved 4q13.1 04q13.1 lncMER52A liver cancer-specific oncogenic long non-coding RNA transcribed by MER52A LTR retrotransposon of the ERV1 class Long intergenic non-protein coding RNAs 1986 2019-05-17 2020-01-10 105377256 ENSG00000285711 XR_002959796 31874857 HGNC:54369 +HGNC:54370 LINC02836 long intergenic non-protein coding RNA 2836 non-coding RNA RNA, long non-coding Approved 6q21 06q21 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105377922 ENSG00000237567 XR_942833 HGNC:54370 +HGNC:54371 LINC02837 long intergenic non-protein coding RNA 2837 non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 101928144 ENSG00000264464 XR_243880 HGNC:54371 +HGNC:54372 LINC02838 long intergenic non-protein coding RNA 2838 non-coding RNA RNA, long non-coding Approved 7p12.3 07p12.3 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375273 ENSG00000285536 XR_927255 HGNC:54372 +HGNC:54373 LINC02839 long intergenic non-protein coding RNA 2839 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375929 ENSG00000254123 XR_001745982 HGNC:54373 +HGNC:54374 LINC02840 long intergenic non-protein coding RNA 2840 non-coding RNA RNA, long non-coding Approved 6q25.2 06q25.2 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105378065 ENSG00000224893 XR_001744418 HGNC:54374 +HGNC:54376 LINC02841 long intergenic non-protein coding RNA 2841 non-coding RNA RNA, long non-coding Approved 19q12 19q12 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105372360 ENSG00000267407 XR_002958416 HGNC:54376 +HGNC:54378 LINC02842 long intergenic non-protein coding RNA 2842 non-coding RNA RNA, long non-coding Approved 8q12.3 08q12.3 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 101929628 ENSG00000254119 XR_001745926 HGNC:54378 +HGNC:27847 LINC02843 long intergenic non-protein coding RNA 2843 non-coding RNA RNA, long non-coding Approved 9q22.1 09q22.1 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 286238 ENSG00000228189 OTTHUMG00000020171 NR_144626 HGNC:27847 +HGNC:54379 LINC02844 long intergenic non-protein coding RNA 2844 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375679 ENSG00000253679 XR_928470 HGNC:54379 +HGNC:54380 LINC02845 long intergenic non-protein coding RNA 2845 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375680 ENSG00000253644 XR_928471 HGNC:54380 +HGNC:54381 LINC02846 long intergenic non-protein coding RNA 2846 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105376323 ENSG00000260193 HGNC:54381 +HGNC:54383 LINC02847 long intergenic non-protein coding RNA 2847 non-coding RNA RNA, long non-coding Approved 8q11.21 08q11.21 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375823 ENSG00000253702 XR_928857 HGNC:54383 +HGNC:54384 LINC02848 long intergenic non-protein coding RNA 2848 non-coding RNA RNA, long non-coding Approved 7q11.21 07q11.21 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 107986806 ENSG00000226581 HGNC:54384 +HGNC:54385 LINC02849 long intergenic non-protein coding RNA 2849 non-coding RNA RNA, long non-coding Approved 8q21.2 08q21.2 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375622 ENSG00000285768 XR_001745725 HGNC:54385 +HGNC:54386 LINC02850 long intergenic non-protein coding RNA 2850 non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 101928271 ENSG00000236436 XR_244595 HGNC:54386 +HGNC:54387 LINC02851 long intergenic non-protein coding RNA 2851 non-coding RNA RNA, long non-coding Approved 9p24.1 09p24.1 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375968 ENSG00000229611 XR_001746562 HGNC:54387 +HGNC:54388 LINC02852 long intergenic non-protein coding RNA 2852 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105370985 ENSG00000285866 XR_932641 HGNC:54388 +HGNC:54390 LINC02853 long intergenic non-protein coding RNA 2853 non-coding RNA RNA, long non-coding Approved 15q14 15q14 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 100507480 ENSG00000259245 XR_109174 HGNC:54390 +HGNC:54391 LINC02854 long intergenic non-protein coding RNA 2854 non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 107986739 ENSG00000238131 XR_001745019 HGNC:54391 +HGNC:54392 LINC02855 long intergenic non-protein coding RNA 2855 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105375732 ENSG00000254209 XR_928597 HGNC:54392 +HGNC:54393 LINC02856 long intergenic non-protein coding RNA 2856 non-coding RNA RNA, long non-coding Approved 18p11.22 18p11.22 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 112268216 ENSG00000285594 XR_002958226 HGNC:54393 +HGNC:54394 LINC02857 long intergenic non-protein coding RNA 2857 non-coding RNA RNA, long non-coding Approved 6q14.2 06q14.2 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 107986618 ENSG00000230852 XR_001744233 HGNC:54394 +HGNC:54395 LINC02858 long intergenic non-protein coding RNA 2858 non-coding RNA RNA, long non-coding Approved 16p12.3 16p12.3 Long intergenic non-protein coding RNAs 1986 2019-05-17 2019-05-17 105371113 ENSG00000285869 XR_950883 HGNC:54395 +HGNC:54399 LINC02859 long intergenic non-protein coding RNA 2859 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 LncRNA-LOC101928316 Long intergenic non-protein coding RNAs 1986 2019-06-19 2019-06-19 101928316 XR_001748478 31207155 HGNC:54399 +HGNC:22364 LINC02860 long intergenic non-protein coding RNA 2860 non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 C7orf71 chromosome 7 open reading frame 71 Long intergenic non-protein coding RNAs 1986 2009-09-11 2019-06-20 2019-06-20 2019-06-20 285941 ENSG00000222004 OTTHUMG00000152860 uc064cex.1 NR_161201 HGNC:22364 +HGNC:54406 LINC02861 long intergenic non-protein coding RNA 2861 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 RP11-462G12.2 Long intergenic non-protein coding RNAs 1986 2019-07-11 2019-07-11 102724927 ENSG00000262185 NR_120311 31283072 HGNC:54406 +HGNC:54419 LINC02862 long intergenic non-protein coding RNA 2862 non-coding RNA RNA, long non-coding Approved 2q35 02q35 AC073284.4 Long intergenic non-protein coding RNAs 1986 2019-07-12 2019-07-12 115409987 ENSG00000237571 NR_174956 31215650 +HGNC:41290 LINC02863 long intergenic non-protein coding RNA 2863 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 Long intergenic non-protein coding RNAs 1986 2019-07-24 2019-07-24 102723741 ENSG00000238160 OTTHUMG00000059494 HGNC:41290 +HGNC:54480 LINC02864 long intergenic non-protein coding RNA 2864 non-coding RNA RNA, long non-coding Approved 18q22.3 18q22.3 RP11-169F17.1 Long intergenic non-protein coding RNAs 1986 2019-08-08 2019-08-08 400655 ENSG00000263711 NR_034133 31368349 HGNC:54480 +HGNC:54516 LINC02865 long intergenic non-protein coding RNA 2865 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 Long intergenic non-protein coding RNAs 1986 2019-09-09 2019-09-09 116435283 ENSG00000229922 NR_174953 +HGNC:54518 LINC02866 long intergenic non-protein coding RNA 2866 non-coding RNA RNA, long non-coding Approved 8p11.21 08p11.21 RP11-359E19.2 Long intergenic non-protein coding RNAs 1986 2019-09-18 2019-09-18 105379386 ENSG00000253665 27363013 HGNC:54518 +HGNC:32040 LINC02868 long intergenic non-protein coding RNA 2868 non-coding RNA RNA, long non-coding Approved 1p13.1 01p13.1 C1orf137 "chromosome 1 open reading frame 137|chromosome 1 open reading frame 137 (putative)" Long intergenic non-protein coding RNAs 1986 2005-07-08 2019-10-04 2019-10-04 2019-10-04 388667 ENSG00000203864 OTTHUMG00000022754 uc031una.2 NR_149353 HGNC:32040 +HGNC:32045 LINC02869 long intergenic non-protein coding RNA 2869 non-coding RNA RNA, long non-coding Approved 1q41 01q41 C1orf143 "chromosome 1 open reading frame 143|chromosome 1 open reading frame 143 (putative)" Long intergenic non-protein coding RNAs 1986 2005-07-08 2019-10-04 2019-10-04 2019-10-04 440714 ENSG00000228208 OTTHUMG00000039569 uc057pme.1 NR_146760 HGNC:32045 +HGNC:27275 LINC02870 long intergenic non-protein coding RNA 2870 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 bA432J24.4 C10orf91 "chromosome 10 open reading frame 91|chromosome 10 open reading frame 91 (putative)" Long intergenic non-protein coding RNAs 1986 2004-03-16 2019-10-04 2019-10-04 2019-10-04 170393 ENSG00000180066 OTTHUMG00000019289 uc057wxm.1 BC030794 NR_149317 12477932 HGNC:27275 +HGNC:16180 LINC02871 long intergenic non-protein coding RNA 2871 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 dJ727I10.1 C20orf187 "chromosome 20 open reading frame 187|chromosome 20 open reading frame 187 (putative)" Long intergenic non-protein coding RNAs 1986 2001-07-17 2019-10-04 2019-10-04 2019-10-04 728434 ENSG00000125899 OTTHUMG00000031881 uc061vke.1 AL050322 NR_146878 HGNC:16180 +HGNC:33817 LINC02872 long intergenic non-protein coding RNA 2872 non-coding RNA RNA, long non-coding Approved 9q21.33 09q21.33 FLJ45537 C9orf170 chromosome 9 open reading frame 170 Long intergenic non-protein coding RNAs 1986 2009-02-11 2019-10-04 2019-10-04 2019-10-04 401535 ENSG00000204446 OTTHUMG00000159587 uc064uce.1 AK127445 NR_161226 A2RU37 HGNC:33817 +HGNC:26805 LINC02873 long intergenic non-protein coding RNA 2873 non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 FLJ39058 C11orf44 chromosome 11 open reading frame 44 Long intergenic non-protein coding RNAs 1986 2005-10-27 2019-10-04 2019-10-04 2019-10-04 283171 ENSG00000175728 OTTHUMG00000150705 uc031qfg.2 AK096377 NR_164144 HGNC:26805 +HGNC:27473 LINC02874 long intergenic non-protein coding RNA 2874 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 C12orf80 chromosome 12 open reading frame 80 Long intergenic non-protein coding RNAs 1986 2013-06-20 2019-10-04 2019-10-04 2019-10-04 283403 ENSG00000257137 OTTHUMG00000169626 BC038743 NR_164131 RGD:9235721 HGNC:27473 +HGNC:32699 LINC02875 long intergenic non-protein coding RNA 2875 non-coding RNA RNA, long non-coding Approved 17q23.2 17q23.2 C17orf82 chromosome 17 open reading frame 82 Long intergenic non-protein coding RNAs 1986 2006-04-24 2019-10-04 2019-10-04 2019-10-04 388407 ENSG00000187013 OTTHUMG00000180077 uc002izh.2 BC046200 NR_160788 Q86X59 HGNC:32699 +HGNC:42963 LINC02876 long intergenic non-protein coding RNA 2876 non-coding RNA RNA, long non-coding Approved 17q22 17q22 C17orf112 chromosome 17 open reading frame 112 Long intergenic non-protein coding RNAs 1986 2012-05-16 2019-10-04 2019-10-04 2019-10-04 100506650 ENSG00000227011 OTTHUMG00000132355 uc021uaf.2 NR_164143 F2Z3M2 HGNC:42963 +HGNC:37259 LINC02877 long intergenic non-protein coding RNA 2877 non-coding RNA RNA, long non-coding Approved 3q25.2 03q25.2 C3orf79 chromosome 3 open reading frame 79 Long intergenic non-protein coding RNAs 1986 2009-09-30 2019-10-09 2019-10-09 2019-11-01 152118 ENSG00000237787 OTTHUMG00000159629 uc003ezt.4 AF086445 NR_160966 P0CE67 HGNC:37259 +HGNC:54524 LINC02878 long intergenic non-protein coding RNA 2878 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 BREA2 breast cancer estrogen-induced apoptosis 2 Long intergenic non-protein coding RNAs 1986 2019-10-10 2019-10-10 286076 ENSG00000181097 AY940073 NR_015445 HGNC:54524 +HGNC:54660 LINC02880 long intergenic non-protein coding RNA 2880 non-coding RNA RNA, long non-coding Approved 6q21 06q21 FLJ34503 Long intergenic non-protein coding RNAs 1986 2019-11-13 2019-11-13 285759 ENSG00000175967 NR_027060 +HGNC:51236 LINC02881 long intergenic non-protein coding RNA 2881 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 C10orf142 chromosome 10 open reading frame 142 Long intergenic non-protein coding RNAs 1986 2015-03-06 2019-11-20 2019-11-20 2019-11-20 100130539 ENSG00000277288 OTTHUMG00000189253 NR_164139 B7Z368 HGNC:51236 +HGNC:54802 LINC02882 long intergenic non-protein coding RNA 2882 non-coding RNA RNA, long non-coding Approved 12q21.1 12q21.1 RP11-81H3.2 Long intergenic non-protein coding RNAs 1986 2020-01-10 2020-01-10 100507377 ENSG00000251138 NR_038300 31858324 +HGNC:54806 LINC02883 long intergenic non-protein coding RNA 2883 non-coding RNA RNA, long non-coding Approved 15q25.3 15q25.3 KMU15 Long intergenic non-protein coding RNAs 1986 2020-01-10 2020-01-10 101929679 ENSG00000259416 NR_120366 31850704 +HGNC:54808 LINC02884 long intergenic non-protein coding RNA 2884 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Long intergenic non-protein coding RNAs 1986 2020-01-15 2020-07-16 105378909 ENSG00000231246 XR_001738189 32079618 +HGNC:41188 LINC02885 long intergenic non-protein coding RNA 2885 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 ISX-AS1 ISX antisense RNA 1 Long intergenic non-protein coding RNAs 1986 2014-06-05 2020-01-22 2020-01-22 2020-01-22 101926957 ENSG00000286592 OTTHUMG00000150934 NR_138042 ISX-AS1 HGNC:41188 +HGNC:54867 LINC02886 long intergenic non-protein coding RNA 2886 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 RP11-697M17.1 Long intergenic non-protein coding RNAs 1986 2020-04-01 2020-04-01 117134599 ENSG00000253712 32226936 +HGNC:55047 LINC02887 long intergenic non-protein coding RNA 2887 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 Long intergenic non-protein coding RNAs 1986 2020-06-03 2020-06-03 105377826 ENSG00000280279 XR_001752723 +HGNC:53765 LINC02888 long intergenic non-protein coding RNA 2888 non-coding RNA RNA, long non-coding Approved 7p21.1 07p21.1 KCCAT333 renal clear cell carcinoma-associated transcript 333 Long intergenic non-protein coding RNAs 1986 2020-06-10 2020-06-10 102659288 ENSG00000236318 OTTHUMG00000152729 NR_110014 +HGNC:55071 LINC02889 long intergenic non-protein coding RNA 2889 non-coding RNA RNA, long non-coding Approved 7p21.1 07p21.1 Long intergenic non-protein coding RNAs 1986 2020-06-10 2020-06-10 101927630 ENSG00000236039 NR_110013 +HGNC:55220 LINC02890 long intergenic non-protein coding RNA 2890 non-coding RNA RNA, long non-coding Approved 16p12.2 16p12.2 Long intergenic non-protein coding RNAs 1986 2020-09-10 2020-09-10 118568814 ENSG00000260905 30049440 +HGNC:55221 LINC02891 long intergenic non-protein coding RNA 2891 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 lnc-RTN4R-1 Long intergenic non-protein coding RNAs 1986 2020-09-10 2020-09-10 284865 ENSG00000249923 NR_038460 27650541 +HGNC:55359 LINC02893 long intergenic non-protein coding RNA 2893 non-coding RNA RNA, long non-coding Approved 9q21.33 09q21.33 Long intergenic non-protein coding RNAs 1986 2020-11-09 2020-11-09 440173 ENSG00000269994 NR_027471 33117693 +HGNC:55364 LINC02894 long intergenic non-protein coding RNA 2894 non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 Long intergenic non-protein coding RNAs 1986 2020-11-11 2020-11-11 100288748 ENSG00000261437 NR_034034 +HGNC:55422 LINC02895 long intergenic non-protein coding RNA 2895 non-coding RNA RNA, long non-coding Approved 15q14 15q14 Long intergenic non-protein coding RNAs 1986 2021-01-07 2021-01-07 120017343 ENSG00000259380 +HGNC:55427 LINC02896 long intergenic non-protein coding RNA 2896 non-coding RNA RNA, long non-coding Approved 15q23 15q23 Long intergenic non-protein coding RNAs 1986 2021-01-08 2021-01-08 105370876 ENSG00000259215 XR_007064695 +HGNC:33759 LINC02897 long intergenic non-protein coding RNA 2897 non-coding RNA RNA, long non-coding Approved 1q44 01q44 FLJ45717 C1orf229 chromosome 1 open reading frame 229 Long intergenic non-protein coding RNAs 1986 2009-04-14 2021-01-25 2021-01-25 2021-02-03 388759 ENSG00000221953 OTTHUMG00000165196 uc001icg.2 BC156415 NR_167894 HGNC:33759 +HGNC:42966 LINC02898 long intergenic non-protein coding RNA 2898 non-coding RNA RNA, long non-coding Approved 2p21 02p21 C2orf91 "chromosome 2 open reading frame 91|chromosome 2 putative open reading frame 91" Long intergenic non-protein coding RNAs 1986 2012-02-17 2021-02-11 2021-02-11 2021-02-11 400950 ENSG00000205086 OTTHUMG00000152307 uc002rsf.1 NR_161189 Q6ZV80 HGNC:42966 +HGNC:26630 LINC02899 long intergenic non-protein coding RNA 2899 non-coding RNA RNA, long non-coding Approved 5p14.2 05p14.2 FLJ34836 C5orf17 "chromosome 5 open reading frame 17 (putative)|chromosome 5 open reading frame 17|chromosome 5 putative open reading frame 17" Long intergenic non-protein coding RNAs 1986 2004-04-19 2021-02-11 2021-02-11 2021-02-12 439936 ENSG00000248874 OTTHUMG00000161911 uc003jgq.1 AK092155 NR_131245 HGNC:26630 +HGNC:27964 LINC02900 long intergenic non-protein coding RNA 2900 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 C5orf66-AS2 C5orf66 antisense RNA 2 Long intergenic non-protein coding RNAs 1986 2014-02-04 2021-02-12 2021-02-12 2021-02-12 340073 ENSG00000249647 OTTHUMG00000163309 NR_037895 12477932 C5orf66-AS2 HGNC:27964 +HGNC:21179 LINC02901 long intergenic non-protein coding RNA 2901 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 yR211F11.1 C6orf99 "chromosome 6 open reading frame 99|chromosome 6 putative open reading frame 99" Long intergenic non-protein coding RNAs 1986 2003-11-26 2021-02-12 2021-02-12 2021-02-12 100130967 ENSG00000203711 OTTHUMG00000015921 uc063sod.1 NR_160976 Q4VX62 HGNC:21179 +HGNC:34432 LINC02902 long intergenic non-protein coding RNA 2902 non-coding RNA RNA, long non-coding Approved 7p12.3 07p12.3 FLJ44108 C7orf65 "chromosome 7 open reading frame 65|chromosome 7 putative open reading frame 65" Long intergenic non-protein coding RNAs 1986 2009-02-02 2021-02-12 2021-02-12 2021-02-15 401335 ENSG00000221845 OTTHUMG00000155550 uc010kyp.2 NR_171030 Q6ZTY9 HGNC:34432 +HGNC:33712 LINC02903 long intergenic non-protein coding RNA 2903 non-coding RNA RNA, long non-coding Approved 7q31.1 07q31.1 C7orf66 "chromosome 7 open reading frame 66|chromosome 7 putative open reading frame 66" Long intergenic non-protein coding RNAs 1986 2009-03-06 2021-02-15 2021-02-15 2021-02-15 154907 ENSG00000205174 OTTHUMG00000154867 uc003vfo.4 AF103078 NR_171002 HGNC:33712 +HGNC:26731 LINC02904 long intergenic non-protein coding RNA 2904 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 FLJ37131 C8orf31 "chromosome 8 open reading frame 31 (putative)|chromosome 8 open reading frame 31" Long intergenic non-protein coding RNAs 1986 2005-07-18 2021-02-15 2021-02-15 2021-02-15 286122 ENSG00000177335 OTTHUMG00000164771 uc003yxq.2 NR_126398 HGNC:26731 +HGNC:32200 LINC02905 long intergenic non-protein coding RNA 2905 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 "FLJ30972|G4DM" GATA4 downstream membrane protein C8orf49 "chromosome 8 open reading frame 49 (putative)|chromosome 8 open reading frame 49|chromosome 8 putative open reading frame 49" Long intergenic non-protein coding RNAs 1986 2005-08-11 2021-02-15 2021-02-15 2021-02-15 606553 ENSG00000255394 OTTHUMG00000165224 uc003wud.2 AK055534 NR_171032 HGNC:32200 +HGNC:42974 LINC02906 long intergenic non-protein coding RNA 2906 non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 C8orf87 "chromosome 8 open reading frame 87|chromosome 8 putative open reading frame 87" Long intergenic non-protein coding RNAs 1986 2012-02-17 2021-02-15 2021-02-15 2021-02-15 389676 ENSG00000279847 OTTHUMG00000164196 uc003yft.2 NR_161372 E5RJ46 HGNC:42974 +HGNC:28581 LINC02907 long intergenic non-protein coding RNA 2907 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 MGC35463 C9orf62 "chromosome 9 open reading frame 62|chromosome 9 putative open reading frame 62" Long intergenic non-protein coding RNAs 1986 2004-01-06 2021-02-15 2021-02-15 2021-02-15 157927 ENSG00000178243 OTTHUMG00000020900 uc004cfo.4 BC034752 NR_171012 12477932 HGNC:28581 +HGNC:31426 LINC02908 long intergenic non-protein coding RNA 2908 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 "FLJ36268|FLJ42909" C9orf139 "chromosome 9 open reading frame 139|chromosome 9 putative open reading frame 139" Long intergenic non-protein coding RNAs 1986 2006-06-30 2021-02-15 2021-02-15 2021-02-15 401563 ENSG00000180539 OTTHUMG00000020959 uc004ckp.2 NR_171031 Q6ZV77 HGNC:31426 +HGNC:27282 LINC02909 long intergenic non-protein coding RNA 2909 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 C12orf77 "chromosome 12 open reading frame 77|chromosome 12 putative open reading frame 77" Long intergenic non-protein coding RNAs 1986 2009-09-30 2021-02-15 2021-02-15 2021-02-15 196415 ENSG00000226397 OTTHUMG00000170185 uc001rgf.4 BC046192 NR_171024 HGNC:27282 +HGNC:26601 LINC02910 long intergenic non-protein coding RNA 2910 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 FLJ33860 C20orf197 "chromosome 20 open reading frame 197|chromosome 20 putative open reading frame 197" Long intergenic non-protein coding RNAs 1986 2006-07-07 2021-02-22 2021-02-22 2021-02-22 284756 ENSG00000176659 OTTHUMG00000032880 uc002ybj.2 AK091179 NR_161291 Q8N268 12975309 HGNC:26601 +HGNC:44658 LINC02911 long intergenic non-protein coding RNA 2911 non-coding RNA RNA, long non-coding Approved 16q12.1 16q12.1 C16orf97 "chromosome 16 open reading frame 97|chromosome 16 putative open reading frame 97" Long intergenic non-protein coding RNAs 1986 2012-12-12 2021-02-25 2021-02-25 2021-02-25 388276 ENSG00000261190 OTTHUMG00000173232 uc059udb.1 XR_004837539 HGNC:44658 +HGNC:32295 LINC02912 long intergenic non-protein coding RNA 2912 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 FLJ36105 TMEM75 transmembrane protein 75 Long intergenic non-protein coding RNAs 1986 2005-10-04 2021-03-04 2021-03-04 2021-03-04 641384 ENSG00000280055 OTTHUMG00000187197 uc003ysm.3 AK093424 NR_103558 Q8N9X5 29964097 HGNC:32295 +HGNC:31370 LINC02913 long intergenic non-protein coding RNA 2913 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 bA65J3.5 C9orf106 "chromosome 9 open reading frame 106 (putative)|chromosome 9 open reading frame 106|chromosome 9 putative open reading frame 106" Long intergenic non-protein coding RNAs 1986 2004-06-02 2021-03-05 2021-03-05 2021-03-05 414318 ENSG00000179082 OTTHUMG00000020781 uc004bxs.3 AK092588 NR_149714 Q8NAJ2 HGNC:31370 +HGNC:26375 LINC02914 long intergenic non-protein coding RNA 2914 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 FLJ25773 C14orf177 "chromosome 14 open reading frame 177|chromosome 14 putative open reading frame 177" Long intergenic non-protein coding RNAs 1986 2006-06-16 2021-03-05 2021-03-05 2021-03-05 283598 ENSG00000176605 OTTHUMG00000167745 uc001yfz.3 AK098639 NR_161368 Q52M58 "26365416|28891297" HGNC:26375 +HGNC:33797 LINC02915 long intergenic non-protein coding RNA 2915 non-coding RNA RNA, long non-coding Approved 15q14 15q14 FLJ39531 C15orf54 "chromosome 15 open reading frame 54 (putative)|chromosome 15 open reading frame 54|chromosome 15 putative open reading frame 54" Long intergenic non-protein coding RNAs 1986 2007-11-21 2021-03-05 2021-03-05 2021-03-05 400360 ENSG00000175746 OTTHUMG00000129843 uc059hne.1 NR_144507 Q8N8G6 MGI:5592088 HGNC:33797 +HGNC:55574 LINC02916 long intergenic non-protein coding RNA 2916 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 TCONS_00018175 Long intergenic non-protein coding RNAs 1986 2021-04-21 2021-04-21 121232376 ENSG00000230555 +HGNC:55643 LINC02917 long intergenic non-protein coding RNA 2917 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Long intergenic non-protein coding RNAs 1986 2021-06-25 2021-06-25 121832814 ENSG00000239941 +HGNC:55649 LINC02918 long intergenic non-protein coding RNA 2918 non-coding RNA RNA, long non-coding Approved 1p34.1 01p34.1 Long intergenic non-protein coding RNAs 1986 2021-06-28 2021-06-28 105378688 ENSG00000237950 XR_947283 +HGNC:55653 LINC02919 long intergenic non-protein coding RNA 2919 non-coding RNA RNA, long non-coding Approved 6q24.2 06q24.2 Long intergenic non-protein coding RNAs 1986 2021-06-28 2021-06-28 105378032 ENSG00000237494 XR_001744395 +HGNC:55660 LINC02920 long intergenic non-protein coding RNA 2920 non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 Long intergenic non-protein coding RNAs 1986 2021-06-30 2021-06-30 121832815 ENSG00000236471 +HGNC:55664 LINC02921 long intergenic non-protein coding RNA 2921 non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 Long intergenic non-protein coding RNAs 1986 2021-06-30 2021-06-30 121832812 ENSG00000236166 +HGNC:55667 LINC02922 long intergenic non-protein coding RNA 2922 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 Long intergenic non-protein coding RNAs 1986 2021-06-30 2021-06-30 121832816 ENSG00000235629 +HGNC:55672 LINC02923 long intergenic non-protein coding RNA 2923 non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 Long intergenic non-protein coding RNAs 1986 2021-06-30 2021-06-30 105374323 ENSG00000235497 XR_001739338 +HGNC:55719 LINC02924 long intergenic non-protein coding RNA 2924 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Long intergenic non-protein coding RNAs 1986 2021-07-12 2021-07-12 121853077 ENSG00000232874 +HGNC:55756 LINC02925 long intergenic non-protein coding RNA 2925 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 RP3-439F8.1 2021-07-21 2021-07-21 122149302 ENSG00000234869 33991848 +HGNC:55776 LINC02926 long intergenic non-protein coding RNA 2926 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 Long intergenic non-protein coding RNAs 1986 2021-07-23 2021-07-23 105372278 ENSG00000230310 XR_001753868 +HGNC:55778 LINC02927 long intergenic non-protein coding RNA 2927 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 Long intergenic non-protein coding RNAs 1986 2021-07-23 2021-07-23 122149304 ENSG00000230153 +HGNC:55799 LINC02928 long intergenic non-protein coding RNA 2928 non-coding RNA RNA, long non-coding Approved 4q12 04q12 Long intergenic non-protein coding RNAs 1986 2021-07-29 2021-07-29 105377659 ENSG00000273257 XR_941060 +HGNC:55812 LINC02929 long intergenic non-protein coding RNA 2929 non-coding RNA RNA, long non-coding Approved 10q21.2 10q21.2 Long intergenic non-protein coding RNAs 1986 2021-07-30 2021-07-30 122152367 ENSG00000285551 +HGNC:55821 LINC02930 long intergenic non-protein coding RNA 2930 non-coding RNA RNA, long non-coding Approved 10q26.12 10q26.12 Long intergenic non-protein coding RNAs 1986 2021-07-30 2021-07-30 105378516 ENSG00000274461 XR_001747608 +HGNC:55853 LINC02931 long intergenic non-protein coding RNA 2931 non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 Long intergenic non-protein coding RNAs 1986 2021-09-03 2021-09-03 122965335 ENSG00000224765 +HGNC:55875 LINC02932 long intergenic non-protein coding RNA 2932 non-coding RNA RNA, long non-coding Approved 7q21.13 07q21.13 RP11-115N4.1 Long intergenic non-protein coding RNAs 1986 2021-09-22 2021-09-22 105375392 ENSG00000243144 XR_001744965 34484222 +HGNC:55908 LINC02933 long intergenic non-protein coding RNA 2933 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 AC012213.3 Long intergenic non-protein coding RNAs 1986 2021-10-06 2021-10-06 122965334 ENSG00000266289 34557038 +HGNC:55913 LINC02934 long intergenic non-protein coding RNA 2934 non-coding RNA RNA, long non-coding Approved 2p14 02p14 Long intergenic non-protein coding RNAs 1986 2021-10-08 2021-10-08 105369168 ENSG00000204929 XR_007086560 +HGNC:55939 LINC02935 long intergenic non-protein coding RNA 2935 non-coding RNA RNA, long non-coding Approved 10q25.2 10q25.2 AL158212.1 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 107984158 ENSG00000225292 XR_001747706 +HGNC:55940 LINC02936 long intergenic non-protein coding RNA 2936 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 AC017074.1 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 123464517 ENSG00000227359 +HGNC:55942 LINC02937 long intergenic non-protein coding RNA 2937 non-coding RNA RNA, long non-coding Approved 9q22.2 09q22.2 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 100507103 ENSG00000230537 XR_007061657 +HGNC:55952 LINC02938 long intergenic non-protein coding RNA 2938 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 123464514 ENSG00000230731 +HGNC:55954 LINC02939 long intergenic non-protein coding RNA 2939 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 642648 ENSG00000235159 NR_148973 +HGNC:55955 LINC02940 long intergenic non-protein coding RNA 2940 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 102724740 ENSG00000235888 XR_007067865 +HGNC:55956 LINC02941 long intergenic non-protein coding RNA 2941 non-coding RNA RNA, long non-coding Approved 6q24.1 06q24.1 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 100507477 ENSG00000236013 NR_121622 +HGNC:55957 LINC02942 long intergenic non-protein coding RNA 2942 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 123464520 ENSG00000237074 +HGNC:55958 LINC02943 long intergenic non-protein coding RNA 2943 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 107985484 ENSG00000237609 XR_001755054 +HGNC:55959 LINC02944 long intergenic non-protein coding RNA 2944 non-coding RNA RNA, long non-coding Approved 10q26.11 10q26.11 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 101927760 ENSG00000238276 XR_001747602 +HGNC:55960 LINC02945 long intergenic non-protein coding RNA 2945 non-coding RNA RNA, long non-coding Approved 4q25 04q25 Long intergenic non-protein coding RNAs 1986 2021-11-10 2021-11-10 123464519 ENSG00000249815 +HGNC:27680 LINC02946 long intergenic non-protein coding RNA 2946 non-coding RNA RNA, long non-coding Approved 2q12.2 02q12.2 RMEL1 enriched in melanoma 1 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 285000 ENSG00000287036 NR_038891 20975957 +HGNC:55962 LINC02947 long intergenic non-protein coding RNA 2947 non-coding RNA RNA, long non-coding Approved 8q11.21 08q11.21 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 105375822 ENSG00000253140 XR_928855 +HGNC:55963 LINC02948 long intergenic non-protein coding RNA 2948 non-coding RNA RNA, long non-coding Approved 8p12 08p12 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 105379351 ENSG00000253182 XR_001745861 +HGNC:55964 LINC02949 long intergenic non-protein coding RNA 2949 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 123466202 ENSG00000253505 +HGNC:55965 LINC02950 long intergenic non-protein coding RNA 2950 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 123466212 ENSG00000254153 +HGNC:55967 LINC02951 long intergenic non-protein coding RNA 2951 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 2021-11-11 123466204 ENSG00000255503 +HGNC:55968 LINC02952 long intergenic non-protein coding RNA 2952 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 123466213 ENSG00000255606 +HGNC:55970 LINC02953 long intergenic non-protein coding RNA 2953 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 102724265 ENSG00000255980 NR_172877 +HGNC:55972 LINC02954 long intergenic non-protein coding RNA 2954 non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 123466205 ENSG00000256733 +HGNC:55973 LINC02955 long intergenic non-protein coding RNA 2955 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Long intergenic non-protein coding RNAs 1986 2021-11-11 2021-11-11 107984516 ENSG00000256995 XR_001749045 +HGNC:55976 LINC02956 long intergenic non-protein coding RNA 2956 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 123466207 ENSG00000259854 +HGNC:55977 LINC02957 long intergenic non-protein coding RNA 2957 non-coding RNA RNA, long non-coding Approved 9q22.2 09q22.2 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 105376144 ENSG00000260454 XR_930112 +HGNC:55981 LINC02958 long intergenic non-protein coding RNA 2958 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 105372023 ENSG00000265752 +HGNC:55982 LINC02959 long intergenic non-protein coding RNA 2959 non-coding RNA RNA, long non-coding Approved 19q12 19q12 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 123466209 ENSG00000267599 +HGNC:55985 LINC02960 long intergenic non-protein coding RNA 2960 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 123466210 ENSG00000275198 +HGNC:55986 LINC02961 long intergenic non-protein coding RNA 2961 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 PP2672 Long intergenic non-protein coding RNAs 1986 2021-11-12 2021-11-12 100130249 ENSG00000279261 NR_148962 +HGNC:55988 LINC02962 long intergenic non-protein coding RNA 2962 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 AL589986.2 Long intergenic non-protein coding RNAs 1986 2021-11-15 2021-11-15 112268240 ENSG00000236427 33146560 +HGNC:53945 LINC02963 long intergenic non-protein coding RNA 2963 non-coding RNA RNA, long non-coding Approved 12p11.1 12p11.1 lncRNA-p3134 Long intergenic non-protein coding RNAs 1986 2021-11-18 2021-11-18 123706542 ENSG00000255652 OTTHUMG00000169290 29590649 +HGNC:53487 LINC02964 long intergenic non-protein coding RNA 2964 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 Long intergenic non-protein coding RNAs 1986 2021-11-18 2021-11-18 105375746 ENSG00000286122 XR_001746072 +HGNC:56003 LINC02965 long intergenic non-protein coding RNA 2965 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 CTC-523E23.5 Long intergenic non-protein coding RNAs 1986 2021-11-25 2021-11-25 123497957 ENSG00000269086 26556537 +HGNC:56006 LINC02966 long intergenic non-protein coding RNA 2966 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 AC016745.3 Long intergenic non-protein coding RNAs 1986 2021-11-29 2021-11-29 101927400 ENSG00000234997 XR_001739647 +HGNC:56007 LINC02967 long intergenic non-protein coding RNA 2967 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 AL035661.1 Long intergenic non-protein coding RNAs 1986 2021-11-29 2021-11-29 105372578 ENSG00000274173 XR_001754563 33759345 +HGNC:56008 LINC02968 long intergenic non-protein coding RNA 2968 non-coding RNA RNA, long non-coding Approved Xp22.33 and Yp11.2 Xp22.33 and Yp11.2 AL683807.1 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 105373105 ENSG00000223511 XR_001755765 +HGNC:56009 LINC02969 long intergenic non-protein coding RNA 2969 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 AC092683.1 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 100506123 ENSG00000230606 NR_130704 +HGNC:56010 LINC02970 long intergenic non-protein coding RNA 2970 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 2021-12-01 2021-12-01 105372712 ENSG00000273812 XR_007067709 +HGNC:56012 LINC02971 long intergenic non-protein coding RNA 2971 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 AL391832.1 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 123706537 ENSG00000237520 +HGNC:56013 LINC02972 long intergenic non-protein coding RNA 2972 non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 AC092490.1 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 123706525 ENSG00000249790 XR_007063204 +HGNC:56015 LINC02973 long intergenic non-protein coding RNA 2973 non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 AC010904.2 Long intergenic non-protein coding RNAs 1986 2021-12-01 2022-01-17 123706551 ENSG00000272002 +HGNC:56017 LINC02974 long intergenic non-protein coding RNA 2974 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 AP005671.1 Long intergenic non-protein coding RNAs 1986 2021-12-01 2021-12-01 123706546 ENSG00000266288 +HGNC:56025 LINC02975 long intergenic non-protein coding RNA 2975 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Long intergenic non-protein coding RNAs 1986 2021-12-02 2021-12-02 101929331 ENSG00000224307 NR_121587 +HGNC:56026 LINC02976 long intergenic non-protein coding RNA 2976 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 RP3-475N16.1 Long intergenic non-protein coding RNAs 1986 2021-12-03 2021-12-03 123706548 ENSG00000231113 +HGNC:56036 LINC02977 long intergenic non-protein coding RNA 2977 non-coding RNA RNA, long non-coding Approved 9q31.3 09q31.3 RP11-4O1.2 Long intergenic non-protein coding RNAs 1986 2021-12-06 2021-12-06 105376220 ENSG00000259953 +HGNC:56041 LINC02978 long intergenic non-protein coding RNA 2978 non-coding RNA RNA, long non-coding Approved 17q11.2 17q11.2 Long intergenic non-protein coding RNAs 1986 2021-12-08 2021-12-08 123706530 ENSG00000265743 +HGNC:56043 LINC02979 long intergenic non-protein coding RNA 2979 non-coding RNA RNA, long non-coding Approved 18p11.21 18p11.21 RP11-703I16.1 Long intergenic non-protein coding RNAs 1986 2021-12-08 2021-12-08 123706539 ENSG00000267480 +HGNC:56046 LINC02980 long intergenic non-protein coding RNA 2980 non-coding RNA RNA, long non-coding Approved 6p22.2 06p22.2 Long intergenic non-protein coding RNAs 1986 2021-12-08 2021-12-08 123706533 ENSG00000272462 +HGNC:56055 LINC02981 long intergenic non-protein coding RNA 2981 non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 Long intergenic non-protein coding RNAs 1986 2021-12-09 2021-12-09 441204 ENSG00000214870 NR_148505 +HGNC:56056 LINC02982 long intergenic non-protein coding RNA 2982 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Long intergenic non-protein coding RNAs 1986 2021-12-09 2021-12-09 100506688 ENSG00000215246 NR_104614 +HGNC:56060 LINC02983 long intergenic non-protein coding RNA 2983 non-coding RNA RNA, long non-coding Approved 7p22.1 07p22.1 Long intergenic non-protein coding RNAs 1986 2021-12-10 2021-12-10 100129484 ENSG00000234432 NR_171035 +HGNC:56063 LINC02984 long intergenic non-protein coding RNA 2984 non-coding RNA RNA, long non-coding Approved 8q11.23 08q11.23 Long intergenic non-protein coding RNAs 1986 2021-12-10 2021-12-10 100507516 ENSG00000237807 NR_149032 +HGNC:56073 LINC02985 long intergenic non-protein coding RNA 2985 non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Long intergenic non-protein coding RNAs 1986 2021-12-13 2021-12-13 100506691 ENSG00000256546 NR_135044 +HGNC:56083 LINC02986 long intergenic non-protein coding RNA 2986 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 Long intergenic non-protein coding RNAs 1986 2021-12-20 2021-12-20 123689089 ENSG00000260317 +HGNC:56093 LINC02987 long intergenic non-protein coding RNA 2987 non-coding RNA RNA, long non-coding Approved 19q11 19q11 Long intergenic non-protein coding RNAs 1986 2021-12-20 2021-12-20 101927151 ENSG00000267575 NR_146733 +HGNC:56098 LINC02988 long intergenic non-protein coding RNA 2988 non-coding RNA RNA, long non-coding Approved 1q21.2 01q21.2 Long intergenic non-protein coding RNAs 1986 2022-01-05 2022-01-05 105371433 ENSG00000285554 NR_135098 +HGNC:56100 LINC02989 long intergenic non-protein coding RNA 2989 non-coding RNA RNA, long non-coding Approved 11p15.3 11p15.3 lnc-MICAL2-1 Long intergenic non-protein coding RNAs 1986 2022-01-05 2022-03-02 ENSG00000255400 34970696 +HGNC:56101 LINC02990 long intergenic non-protein coding RNA 2990 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 RP11-909N17.2 Long intergenic non-protein coding RNAs 1986 2022-01-05 2022-01-05 107986984 ENSG00000253931 34957995 +HGNC:33810 LINC02991 long intergenic non-protein coding RNA 2991 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Long intergenic non-protein coding RNAs 1986 2022-01-05 2022-01-05 401040 ENSG00000196758 OTTHUMG00000133345 NR_172921 +HGNC:49287 LINC02992 long intergenic non-protein coding RNA 2992 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 Long intergenic non-protein coding RNAs 1986 2022-01-06 2022-01-06 100499194 NR_034130 +HGNC:56105 LINC02993 long intergenic non-protein coding RNA 2993 non-coding RNA RNA, long non-coding Approved 2q22.3 02q22.3 Long intergenic non-protein coding RNAs 1986 2022-01-06 2022-01-06 105373656 ENSG00000287115 NR_136320 +HGNC:56109 LINC02994 long intergenic non-protein coding RNA 2994 non-coding RNA RNA, long non-coding Approved 4q21.23 04q21.23 Long intergenic non-protein coding RNAs 1986 2022-01-06 2022-01-06 101928978 ENSG00000250546 NR_125909 +HGNC:27744 LINC02995 long intergenic non-protein coding RNA 2995 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 Long intergenic non-protein coding RNAs 1986 2022-01-06 2022-01-06 285593 ENSG00000253955 NR_027108 12477932 +HGNC:56112 LINC02996 long intergenic non-protein coding RNA 2996 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 TCONS_00010315 Long intergenic non-protein coding RNAs 1986 2022-01-07 2022-01-07 101926960 NR_104635 +HGNC:56113 LINC02997 long intergenic non-protein coding RNA 2997 non-coding RNA RNA, long non-coding Approved 5q13.1 05q13.1 Long intergenic non-protein coding RNAs 1986 2022-01-07 2022-01-07 101928858 ENSG00000249364 NR_130779 +HGNC:56114 LINC02998 long intergenic non-protein coding RNA 2998 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 TCONS_00010334 Long intergenic non-protein coding RNAs 1986 2022-01-07 2022-01-07 102467080 NR_104658 +HGNC:56115 LINC02999 long intergenic non-protein coding RNA 2999 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 Long intergenic non-protein coding RNAs 1986 2022-01-07 2022-01-07 102546229 ENSG00000250564 NR_105044 +HGNC:56116 LINC03000 long intergenic non-protein coding RNA 3000 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Long intergenic non-protein coding RNAs 1986 2022-01-07 2022-01-07 105377703 ENSG00000241956 XR_001742489 +HGNC:56118 LINC03001 long intergenic non-protein coding RNA 3001 non-coding RNA RNA, long non-coding Approved 6p11.2 06p11.2 TCONS_00011222 Long intergenic non-protein coding RNAs 1986 2022-01-07 2022-01-07 100506188 NR_109774 +HGNC:56123 LINC03002 long intergenic non-protein coding RNA 3002 non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 Long intergenic non-protein coding RNAs 1986 2022-01-10 2022-01-10 101928304 ENSG00000232310 NR_125855 +HGNC:56126 LINC03003 long intergenic non-protein coding RNA 3003 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Long intergenic non-protein coding RNAs 1986 2022-01-10 2022-01-10 2022-01-10 101929006 ENSG00000197171 NR_134630 +HGNC:56128 LINC03004 long intergenic non-protein coding RNA 3004 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 Long intergenic non-protein coding RNAs 1986 2022-01-10 2022-01-10 2022-01-10 102723649 ENSG00000230533 NR_125867 +HGNC:56130 LINC03005 long intergenic non-protein coding RNA 3005 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 Long intergenic non-protein coding RNAs 1986 2022-01-10 2022-01-10 105374972 NR_134613 +HGNC:56131 LINC03006 long intergenic non-protein coding RNA 3006 non-coding RNA RNA, long non-coding Approved 7q11.21 07q11.21 Long intergenic non-protein coding RNAs 1986 2022-01-10 2022-01-10 441242 ENSG00000272693 NR_038378 +HGNC:56132 LINC03007 long intergenic non-protein coding RNA 3007 non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 Long intergenic non-protein coding RNAs 1986 2022-01-10 2022-01-10 646588 ENSG00000223561 NR_157808 +HGNC:56133 LINC03008 long intergenic non-protein coding RNA 3008 non-coding RNA RNA, long non-coding Approved 7q32.2 07q32.2 Long intergenic non-protein coding RNAs 1986 2022-01-10 2022-01-10 100128325 ENSG00000229196 NR_149033 +HGNC:56134 LINC03009 long intergenic non-protein coding RNA 3009 non-coding RNA RNA, long non-coding Approved 7q11.23 07q11.23 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 100133091 ENSG00000205485 NR_029411 +HGNC:56135 LINC03010 long intergenic non-protein coding RNA 3010 non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 100286906 ENSG00000218672 NR_147174 +HGNC:56136 LINC03011 long intergenic non-protein coding RNA 3011 non-coding RNA RNA, long non-coding Approved 7q11.21 07q11.21 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 100289098 ENSG00000237310 NR_134570 +HGNC:56139 LINC03012 long intergenic non-protein coding RNA 3012 non-coding RNA RNA, long non-coding Approved 7q31.33 07q31.33 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 100506682 ENSG00000226770 NR_110024 +HGNC:56140 LINC03013 long intergenic non-protein coding RNA 3013 non-coding RNA RNA, long non-coding Approved 7p14.2 07p14.2 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 100506725 ENSG00000227544 NR_108082 +HGNC:56142 LINC03014 long intergenic non-protein coding RNA 3014 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 100507642 ENSG00000240859 NR_108064 +HGNC:56143 LINC03015 long intergenic non-protein coding RNA 3015 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 102723672 ENSG00000242474 NR_134325 +HGNC:56145 LINC03016 long intergenic non-protein coding RNA 3016 non-coding RNA RNA, long non-coding Approved 7p21.3 07p21.3 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 101927354 ENSG00000230825 NR_108073 +HGNC:56146 LINC03017 long intergenic non-protein coding RNA 3017 non-coding RNA RNA, long non-coding Approved 7q21.11 07q21.11 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 101927378 ENSG00000235139 NR_110079 +HGNC:27837 LINC03018 long intergenic non-protein coding RNA 3018 non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 286178 ENSG00000254139 NR_134276 +HGNC:27982 LINC03019 long intergenic non-protein coding RNA 3019 non-coding RNA RNA, long non-coding Approved 8p23.1-p22 08p23.1-p22 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 340357 ENSG00000254813 BC043360 NR_152742 12477932 +HGNC:56148 LINC03020 long intergenic non-protein coding RNA 3020 non-coding RNA RNA, long non-coding Approved 8q13.3 08q13.3 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 101926892 ENSG00000253967 NR_110653 +HGNC:56149 LINC03021 long intergenic non-protein coding RNA 3021 non-coding RNA RNA, long non-coding Approved 8p23.2 08p23.2 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 101927815 ENSG00000254319 NR_125425 +HGNC:56151 LINC03022 long intergenic non-protein coding RNA 3022 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 LINCR-0001 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 101929191 ENSG00000253641 NR_120604 24847104 +HGNC:56154 LINC03023 long intergenic non-protein coding RNA 3023 non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 Long intergenic non-protein coding RNAs 1986 2022-01-12 2022-01-12 102467222 ENSG00000254026 NR_130773 +HGNC:56155 LINC03024 long intergenic non-protein coding RNA 3024 non-coding RNA RNA, long non-coding Approved 8q24.22 08q24.22 Long intergenic non-protein coding RNAs 1986 2022-01-13 2022-01-13 105375773 NR_134462 +HGNC:56158 LINC03025 long intergenic non-protein coding RNA 3025 non-coding RNA RNA, long non-coding Approved 9p11.2 09p11.2 Long intergenic non-protein coding RNAs 1986 2022-01-13 2022-01-13 440896 ENSG00000276462 NR_015361 +HGNC:56164 LINC03026 long intergenic non-protein coding RNA 3026 non-coding RNA RNA, long non-coding Approved 9q22.1 09q22.1 Long intergenic non-protein coding RNAs 1986 2022-01-13 2022-01-13 102724156 ENSG00000287750 NR_135137 +HGNC:48681 LINC03027 long intergenic non-protein coding RNA 3027 non-coding RNA RNA, long non-coding Approved 10p12.2 10p12.2 Long intergenic non-protein coding RNAs 1986 2022-01-14 2022-01-14 100499489 NR_036533 +HGNC:56168 LINC03028 long intergenic non-protein coding RNA 3028 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Long intergenic non-protein coding RNAs 1986 2022-01-14 2022-01-14 101929117 ENSG00000236894 NR_134472 +HGNC:56169 LINC03029 long intergenic non-protein coding RNA 3029 non-coding RNA RNA, long non-coding Approved 10q11.22 10q11.22 Long intergenic non-protein coding RNAs 1986 2022-01-14 2022-01-14 105378292 NR_134499 +HGNC:56171 LINC03030 long intergenic non-protein coding RNA 3030 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 Long intergenic non-protein coding RNAs 1986 2022-01-14 2022-01-14 646029 NR_130930 +HGNC:56174 LINC03031 long intergenic non-protein coding RNA 3031 non-coding RNA RNA, long non-coding Approved 11p13 11p13 Long intergenic non-protein coding RNAs 1986 2022-01-14 2022-01-14 2022-01-14 100506675 ENSG00000254584 NR_120526 +HGNC:56192 LINC03032 long intergenic non-protein coding RNA 3032 non-coding RNA RNA, long non-coding Approved 13q34 13q34 Long intergenic non-protein coding RNAs 1986 2022-01-31 2022-01-31 105370361 ENSG00000279965 NR_148221 +HGNC:44292 LINC03033 long intergenic non-protein coding RNA 3033 non-coding RNA RNA, long non-coding Approved 14q23 14q23 Long intergenic non-protein coding RNAs 1986 2022-01-31 2022-01-31 400221 ENSG00000232774 OTTHUMG00000171535 NR_039985 +HGNC:54360 LINC03034 long intergenic non-protein coding RNA 3034 non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 Long intergenic non-protein coding RNAs 1986 2022-02-02 2022-02-02 283710 ENSG00000259772 NR_171016 +HGNC:56211 LINC03035 long intergenic non-protein coding RNA 3035 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 Long intergenic non-protein coding RNAs 1986 2022-02-24 2022-02-24 105372125 XR_935478 35191423 +HGNC:53956 LINCADL lincRNA adipogenesis and lipogenesis associated non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 linc-ADAL lincRNA for adipogenesis and lipogenesis Long non-coding RNAs with non-systematic symbols 1992 2018-09-06 2018-09-06 107986443 ENSG00000287148 NR_157226 29925637 HGNC:53956 +HGNC:49089 LINCMD1 long intergenic non-protein coding RNA, muscle differentiation 1 non-coding RNA RNA, long non-coding Approved 6p12.2 06p12.2 "MIR133BHG|LINC-MD1" MIR133B host gene (non-protein coding) 2013-08-29 2014-04-22 2014-02-19 2017-10-20 101154644 ENSG00000225613 OTTHUMG00000014842 BG461844 NR_131248 "22000014|24440503" 614933 linc-MD1 LINCMD1 HGNC:49089 +HGNC:21205 LINGO1 leucine rich repeat and Ig domain containing 1 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "FLJ14594|LERN1" LRRN6A leucine rich repeat neuronal 6A I-set domain containing 593 2003-06-11 2007-02-01 2007-02-01 2016-10-05 84894 ENSG00000169783 OTTHUMG00000172629 uc059lzw.1 AK027500 NM_032808 "CCDS45313|CCDS73766" Q96FE5 14686891 MGI:1915522 RGD:1308668 609791 285742 objectId:2882 HGNC:21205 "ENST00000355300.7|NM_032808.7" HGNC:21205 +HGNC:27368 LINGO1-AS1 LINGO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q24.3 15q24.3 Antisense RNAs 1987 2014-11-21 2014-11-21 253044 ENSG00000259666 OTTHUMG00000172626 BC042092 NR_045123 12477932 LINGO1-AS1 HGNC:27368 +HGNC:51423 LINGO1-AS2 LINGO1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 15q24.3 15q24.3 Antisense RNAs 1987 2014-11-21 2014-11-21 101929478 ENSG00000259281 OTTHUMG00000172627 BC038758 NR_120361 LINGO1-AS2 HGNC:51423 +HGNC:21207 LINGO2 leucine rich repeat and Ig domain containing 2 protein-coding gene gene with protein product Approved 9p21.2-p21.1 09p21.2-p21.1 LERN3 LRRN6C leucine rich repeat neuronal 6C "I-set domain containing|MicroRNA protein coding host genes" "593|1691" 2003-06-11 2007-02-01 2007-02-01 2018-02-13 158038 ENSG00000174482 OTTHUMG00000019721 uc064smp.1 AL353746 NM_152570 CCDS6524 Q7L985 14686891 MGI:2442298 RGD:1310773 609793 HGNC:21207 +HGNC:21206 LINGO3 leucine rich repeat and Ig domain containing 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 LERN2 LRRN6B leucine rich repeat neuronal 6B I-set domain containing 593 2003-06-11 2007-02-01 2007-02-01 2020-04-20 645191 ENSG00000220008 OTTHUMG00000180418 uc060rka.1 AK091795 NM_001101391 CCDS45905 P0C6S8 14686891 MGI:3609246 RGD:1592209 609792 HGNC:21206 +HGNC:31814 LINGO4 leucine rich repeat and Ig domain containing 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LRRN6D leucine rich repeat neuronal 6D I-set domain containing 593 2004-09-03 2007-02-01 2007-02-01 2018-11-16 339398 ENSG00000213171 OTTHUMG00000013059 uc001ezf.2 NM_001004432 CCDS30855 Q6UY18 MGI:2444651 RGD:1562025 609794 HGNC:31814 "ENST00000368820.4|NM_001004432.4" +HGNC:53170 LINP1 lncRNA in non-homologous end joining pathway 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 lncRNA in nonhomologous end joining (NHEJ) pathway 1 Long non-coding RNAs with non-systematic symbols 1992 2017-03-15 2020-10-14 108570035 ENSG00000223784 OTTHUMG00000017625 NR_138480 "27111890|33045735" HGNC:53170 +HGNC:30922 LINS1 lines homolog 1 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 WINS1 "LINS|MRT27" "lines homolog 1 (Drosophila)|lines homolog (Drosophila)|mental retardation, non-syndromic, autosomal recessive, 27" 2005-02-23 2015-08-18 2015-08-18 2019-07-09 55180 ENSG00000140471 OTTHUMG00000149865 AK095448 NM_018148 CCDS10385 Q8NG48 "12119551|8889548|28181389" MGI:1919885 RGD:1308792 610350 357802 HGNC:30922 "ENST00000314742.13|NM_001040616.3" HGNC:30922 +HGNC:6617 LIPA lipase A, lysosomal acid type protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "LAL|CESD" "Wolman disease|lysosomal acid lipase|sterol esterase" lipase A, lysosomal acid, cholesterol esterase Lipases 464 1986-01-01 2016-02-12 2016-10-05 3988 ENSG00000107798 OTTHUMG00000018716 uc001kga.6 M74775 NM_000235 "CCDS7401|CCDS73160" P38571 8432549 MGI:96789 RGD:3008 613497 123063 S33.017 3.1.1.13 HGNC:6617 "ENST00000336233.10|NM_000235.4" HGNC:6617 +HGNC:6618 LIPB lipase B, lysosomal acid type other unknown Approved 16 16 2001-06-22 2016-02-12 2019-06-26 3989 6937431 247980 3.1.1.3 +HGNC:6619 LIPC lipase C, hepatic type protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "HL|HTGL" Triacylglycerol lipase lipase, hepatic Lipases 464 2001-06-22 2016-02-12 2016-02-12 3990 ENSG00000166035 OTTHUMG00000132632 uc010bga.3 NM_000236 CCDS10166 P11150 MGI:96216 RGD:3009 151670 159980 3.1.1.3 HGNC:6619 "ENST00000299022.10|NM_000236.3" HGNC:6619 +HGNC:52294 LIPC-AS1 LIPC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.3 15q21.3 Antisense RNAs 1987 2016-05-25 2016-05-25 101928694 ENSG00000259293 OTTHUMG00000171977 NR_120338 HGNC:52294 +HGNC:6621 LIPE lipase E, hormone sensitive type protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HSL lipase, hormone-sensitive Lipases 464 1989-02-23 2016-02-12 2016-02-12 3991 ENSG00000079435 OTTHUMG00000182814 uc002otr.4 L11706 NM_005357 CCDS12607 Q05469 8506334 MGI:96790 RGD:3010 151750 444104 S09.993 objectId:2593 3.1.1.79 HGNC:6621 "ENST00000244289.9|NM_005357.4" HGNC:6621 +HGNC:48589 LIPE-AS1 LIPE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 Antisense RNAs 1987 2013-05-21 2021-07-20 100996307 ENSG00000213904 OTTHUMG00000182815 "AK096849|BM974950" NR_073179 33898314 LIPE-AS1 HGNC:48589 +HGNC:6622 LIPF lipase F, gastric type protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "HGL|HLAL" gastric triacylglycerol lipase lipase, gastric Lipases 464 1998-10-14 2016-02-12 2016-10-05 8513 ENSG00000182333 OTTHUMG00000018695 uc001kfg.3 X05997 NM_001198828 "CCDS55718|CCDS55719|CCDS65896|CCDS7389" P07098 "3304425|9186906" MGI:1914967 RGD:708441 601980 S33.018 objectId:2626 3.1.1.3 HGNC:6622 "ENST00000238983.9|NM_004190.4" +HGNC:6623 LIPG lipase G, endothelial type protein-coding gene gene with protein product Approved 18q21.1 18q21.1 EDL lipase, endothelial Lipases 464 1999-06-18 2016-02-12 2016-02-12 9388 ENSG00000101670 OTTHUMG00000179658 uc002ldv.4 AF118767 NM_006033 "CCDS77187|CCDS11938" Q9Y5X9 "10318835|10192396" MGI:1341803 RGD:1310740 603684 objectId:2591 HGNC:6623 "ENST00000261292.9|NM_006033.4" +HGNC:18483 LIPH lipase H protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "mPA-PLA1|PLA1B|mPA-PLA1alpha|LPDLR" phospholipase A(1) lipase, member H Lipases 464 2002-11-28 2016-01-29 2016-10-05 200879 ENSG00000163898 OTTHUMG00000156657 uc003fpm.4 AY093498 NM_139248 CCDS3272 Q8WWY8 "12213196|12063250" MGI:2388029 RGD:1592849 607365 159333 3.1.1.32 HGNC:18483 "ENST00000296252.9|NM_139248.3" HGNC:18483 +HGNC:18821 LIPI lipase I protein-coding gene gene with protein product Approved 21q11.2 21q11.2 "PRED5|LPDL|CT17|mPA-PLA1beta|PLA1C" "membrane-associated phospholipase A1 beta|cancer/testis antigen 17" lipase, member I Lipases 464 2002-07-01 2016-01-29 2016-01-29 149998 ENSG00000188992 OTTHUMG00000074258 uc061zbf.1 BC028732 NM_198996 CCDS13564 Q6XZB0 12719377 MGI:2443868 RGD:1310162 609252 123067 3.1.1.32 HGNC:18821 "ENST00000681601.1|NM_001302998.2" HGNC:18821 +HGNC:21773 LIPJ lipase family member J protein-coding gene gene with protein product Approved 10q23.31 10q23.31 bA425M17.2 LIPL1 lipase-like, ab-hydrolase domain containing 1 Lipases 464 2004-05-27 2007-02-27 2016-01-29 2018-11-16 142910 ENSG00000204022 OTTHUMG00000018691 uc001kff.3 BC031219 NM_001010939 CCDS31240 Q5W064 613921 470610 S33.020 HGNC:21773 +HGNC:23444 LIPK lipase family member K protein-coding gene gene with protein product Approved 10q23.31 10q23.31 bA186O14.2 LIPL2 lipase-like, ab-hydrolase domain containing 2 Lipases 464 2004-06-02 2007-02-27 2016-01-29 2018-11-16 643414 ENSG00000204021 OTTHUMG00000018693 uc010qmv.3 NM_001080518 CCDS44455 Q5VXJ0 MGI:2679259 RGD:1309724 613922 HGNC:23444 "ENST00000404190.3|NM_001080518.2" +HGNC:23455 LIPM lipase family member M protein-coding gene gene with protein product Approved 10q23.31 10q23.31 bA304I5.1 LIPL3 lipase-like, ab-hydrolase domain containing 3 Lipases 464 2004-05-27 2007-02-27 2016-01-29 2018-11-16 340654 ENSG00000173239 OTTHUMG00000018698 uc009xtm.2 NM_001128215 CCDS44457 Q5VYY2 MGI:1926003 RGD:1304912 613923 HGNC:23455 "ENST00000404743.9|NM_001128215.1" +HGNC:23452 LIPN lipase family member N protein-coding gene gene with protein product Approved 10q23.31 10q23.31 bA186O14.3 LIPL4 lipase-like, ab-hydrolase domain containing 4 Lipases 464 2004-06-02 2007-02-27 2016-01-29 2019-04-10 643418 ENSG00000204020 OTTHUMG00000018694 uc010qmw.2 NM_001102469 CCDS44456 Q5VXI9 "17562024|21439540" MGI:1917416 RGD:1560354 613924 264501 HGNC:23452 "ENST00000404459.2|NM_001102469.2" HGNC:23452 +HGNC:29569 LIPT1 lipoyltransferase 1 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "MGC12290|MGC13378" 2004-02-11 2021-05-26 51601 ENSG00000144182 OTTHUMG00000130640 uc002szo.5 AB017566 NM_015929 CCDS2039 Q9Y234 10103005 MGI:3645211 RGD:1310276 610284 394081 2.3.1.181 HGNC:29569 "ENST00000651691.1|NM_145199.3" HGNC:29569 +HGNC:39278 LIPT1P1 lipoyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 13q33.1 13q33.1 2010-11-25 2010-11-25 100131188 ENSG00000229975 OTTHUMG00000017299 NG_021973 PGOHUM00000248677 HGNC:39278 +HGNC:37216 LIPT2 lipoyl(octanoyl) transferase 2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "lipoate-protein ligase B|lipoyl/octanoyl transferase|octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase" lipoyl(octanoyl) transferase 2 (putative) 2009-09-09 2017-08-08 2021-12-07 387787 ENSG00000175536 OTTHUMG00000165646 uc010rrk.3 NM_001144869 CCDS44679 A6NK58 "28628643|28757203" MGI:1914414 RGD:1305211 LRG_1089|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1089.xml 617659 456990 2.3.1.181 HGNC:37216 "ENST00000310109.5|NM_001144869.3" HGNC:37216 +HGNC:56172 LIPT2-AS1 LIPT2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2022-01-14 2022-01-14 100287896 ENSG00000254837 NR_171028 +HGNC:16841 LITAF lipopolysaccharide induced TNF factor protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "PIG7|SIMPLE|FLJ38636|TP53I7" lipopolysaccharide-induced TNF factor 2003-03-14 2016-03-21 2021-05-26 9516 ENSG00000189067 OTTHUMG00000177415 uc059qvo.1 AB034747 NM_004862 "CCDS45411|CCDS32386" Q99732 "9305847|10200294" MGI:1929512 RGD:69294 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_253|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_253.xml" 603795 123070 HGNC:16841 "ENST00000622633.5|NM_001136472.2" HGNC:16841 +HGNC:53927 LITAFD LITAF domain containing protein-coding gene gene with protein product Approved 16p13.2 16p13.2 2019-03-21 2019-12-06 101929989 ENSG00000283516 OTTHUMG00000176581 NM_001395433 A0A1B0GVX0 MGI:3643507 HGNC:53927 +HGNC:53130 LIVAR liver cell viability associated lncRNA non-coding RNA RNA, long non-coding Approved 18q22.2 18q22.2 lnc18q22.2 Long non-coding RNAs with non-systematic symbols 1992 2017-02-16 2017-02-16 102724895 ENSG00000266304 OTTHUMG00000178698 NR_146458 28073183 HGNC:53130 +HGNC:18581 LIX1 limb and CNS expressed 1 protein-coding gene gene with protein product Approved 5q15 05q15 Lft Lowfat homolog (Drosophila) C5orf11 "chromosome 5 open reading frame 11|Lix1 homolog (mouse)|Lix1 homolog (chicken)" 2002-04-26 2005-02-07 2015-06-18 2015-06-18 167410 ENSG00000145721 OTTHUMG00000128720 uc003kmy.5 NM_153234 CCDS4088 Q8N485 "11731258|19710173" MGI:1913893 RGD:1309454 610466 HGNC:18581 "ENST00000274382.9|NM_153234.5" +HGNC:52976 LIX1-AS1 LIX1 and RIOK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q15 05q15 Antisense RNAs 1987 2016-12-22 2016-12-22 101926893 ENSG00000251513 OTTHUMG00000162866 XR_007058882 HGNC:52976 +HGNC:28715 LIX1L limb and CNS expressed 1 like protein-coding gene gene with protein product Approved 1q21.1 01q21.1 MGC46719 "Lix1 homolog (mouse) like|Lix1 homolog (chicken)-like|Lix1 homolog (chicken) like" 2005-02-02 2015-06-18 2015-09-03 128077 ENSG00000271601 OTTHUMG00000013741 uc001enr.5 AK128733 NM_153713 CCDS72873 Q8IVB5 19710173 MGI:3036267 RGD:1593161 HGNC:28715 "ENST00000604000.4|NM_153713.3" +HGNC:41210 LIX1L-AS1 LIX1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.1 01q21.1 Antisense RNAs 1987 2016-12-22 2016-12-22 105371260 ENSG00000234222 OTTHUMG00000042245 NR_147182 HGNC:41210 +HGNC:33718 LKAAEAR1 LKAAEAR motif containing 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 C20orf201 chromosome 20 open reading frame 201 2008-06-11 2014-01-28 2014-01-28 2018-06-26 198437 ENSG00000171695 OTTHUMG00000033021 NM_001007125 "CCDS86972|CCDS33509" Q8TD35 MGI:2685538 RGD:1306208 HGNC:33718 "ENST00000302096.5|NM_001353425.2" +HGNC:21750 LLCFC1 LLLL and CFNLAS motif containing 1 protein-coding gene gene with protein product Approved 7q34 07q34 CTM-1 C7orf34 chromosome 7 open reading frame 34 2003-07-22 2017-07-21 2017-07-21 2017-08-17 135927 ENSG00000165131 OTTHUMG00000152664 uc003wca.3 BC014596 NM_178829 CCDS5876 Q96L11 12477932 MGI:1923856 RGD:1595510 618946 HGNC:21750 "ENST00000409607.5|NM_001382496.1" +HGNC:6628 LLGL1 LLGL scribble cell polarity complex component 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "Lgl1|Mgl1" "DLG4|LLGL|HUGL|HUGL-1" "lethal giant larvae homolog 1 (Drosophila)|lethal giant larvae homolog 1, scribble cell polarity complex component" "WD repeat domain containing|Scribble complex" "362|1224" 1995-09-12 2018-11-09 2018-11-09 3996 ENSG00000131899 OTTHUMG00000059396 uc002gsp.4 NM_004140 CCDS32586 Q15334 "7542763|8565641" MGI:102682 RGD:3012 600966 470214 HGNC:6628 "ENST00000316843.9|NM_004140.4" HGNC:6628 +HGNC:6629 LLGL2 LLGL scribble cell polarity complex component 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HGL|Hugl-2" "lethal giant larvae homolog 2 (Drosophila)|lethal giant larvae homolog 2, scribble cell polarity complex component|LLGL2, scribble cell polarity complex component" "WD repeat domain containing|Scribble complex" "362|1224" 1997-01-28 2018-11-09 2019-08-20 3993 ENSG00000073350 OTTHUMG00000179685 uc002joh.4 X87342 NM_004524 "CCDS45776|CCDS32733|CCDS11725" Q6P1M3 22580609 MGI:1918843 RGD:1560307 618483 HGNC:6629 "ENST00000392550.8|NM_001031803.2" +HGNC:28229 LLPH LLP homolog, long-term synaptic facilitation factor protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "MGC14817|hLLP" human LAPS18-like protein C12orf31 "chromosome 12 open reading frame 31|LLP homolog, long-term synaptic facilitation (Aplysia)" 2006-01-17 2008-10-02 2018-04-06 2018-04-06 84298 ENSG00000139233 OTTHUMG00000168959 uc010ssw.3 AK057947 NM_032338 CCDS8974 Q9BRT6 26961175 MGI:1913475 RGD:1308261 616998 HGNC:28229 "ENST00000266604.7|NM_032338.4" +HGNC:50493 LLPH-DT LLPH divergent transcript non-coding RNA RNA, long non-coding Approved 12q14.3 12q14.3 LLPH-AS1 LLPH antisense RNA 1 (head to head) Divergent transcripts 1990 2014-07-28 2018-03-23 2018-03-23 2018-03-23 103625681 ENSG00000239335 OTTHUMG00000168960 DA010836 NR_125724 LLPH-AS1 HGNC:50493 +HGNC:50491 LLPHP1 LLPH pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 "LLP homolog, long-term synaptic facilitation (Aplysia) pseudogene 1|LLP homolog, long-term synaptic facilitation pseudogene 1" 2014-05-09 2020-01-08 2020-01-08 106480685 ENSG00000270793 OTTHUMG00000184891 NG_043290 PGOHUM00000247607 HGNC:50491 +HGNC:50492 LLPHP2 LLPH pseudogene 2 pseudogene pseudogene Approved 21q21.3 21q21.3 "LLP homolog, long-term synaptic facilitation (Aplysia) pseudogene 2|LLP homolog, long-term synaptic facilitation pseudogene 2" 2014-05-09 2020-01-08 2020-01-08 106480300 ENSG00000235514 OTTHUMG00000078439 NG_044256 PGOHUM00000239054 HGNC:50492 +HGNC:54775 LLPHP3 LLPH pseudogene 3 pseudogene pseudogene Approved 2q36.1 02q36.1 2020-01-08 2020-01-08 2020-01-08 2020-01-08 646644 ENSG00000233868 NG_029252 +HGNC:6631 LMAN1 lectin, mannose binding 1 protein-coding gene gene with protein product Approved 18q21.32 18q21.32 "MR60|ERGIC-53|ERGIC53|gp58|MCFD1|FMFD1" endoplasmic reticulum-golgi intermediate compartment protein 53 F5F8D "coagulation factor V-factor VIII combined deficiency|lectin, mannose-binding, 1" 1996-06-06 2016-01-22 2021-04-13 3998 ENSG00000074695 OTTHUMG00000132758 uc002lhz.4 X71661 NM_005570 CCDS11974 P49257 "9546392|8854877" MGI:1917611 RGD:71020 LRG_595|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_595.xml 601567 123076 HGNC:6631 "ENST00000251047.6|NM_005570.4" HGNC:6631 +HGNC:6632 LMAN1L lectin, mannose binding 1 like protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "ERGL|ERGIC-53L" lectin, mannose-binding, 1 like 2000-05-05 2016-01-22 2016-01-22 79748 ENSG00000140506 OTTHUMG00000142813 uc002ayt.2 AF303398 NM_021819 CCDS10270 Q9HAT1 11255007 MGI:2667537 RGD:1310538 609548 HGNC:6632 "ENST00000309664.10|NM_021819.3" +HGNC:16986 LMAN2 lectin, mannose binding 2 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "GP36B|VIP36" C5orf8 "chromosome 5 open reading frame 8|lectin, mannose-binding 2" 2001-10-18 2003-07-04 2016-01-22 2016-10-05 10960 ENSG00000169223 OTTHUMG00000130860 uc003mge.4 U10362 NM_006816 CCDS4417 Q12907 12609988 MGI:1914140 RGD:1308965 609551 HGNC:16986 "ENST00000303127.12|NM_006816.3" +HGNC:19263 LMAN2L lectin, mannose binding 2 like protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "DKFZp564L2423|VIPL" VIP36-like lectin, mannose-binding 2-like 2003-07-01 2016-01-22 2018-06-27 81562 ENSG00000114988 OTTHUMG00000130453 uc002swu.4 AL136617 NM_030805 "CCDS2023|CCDS46365" Q9H0V9 12609988 MGI:2443010 RGD:1311393 609552 456803 HGNC:19263 "ENST00000264963.9|NM_030805.4" HGNC:19263 +HGNC:13243 LMBR1 limb development membrane protein 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "ACHP|FLJ11665|ZRS" C7orf2 "chromosome 7 open reading frame 2|limb region 1 homolog (mouse)" 2000-12-20 2005-07-25 2013-08-05 2014-11-18 64327 ENSG00000105983 OTTHUMG00000151510 uc003wmw.5 AF107454 NM_022458 "CCDS5945|CCDS87569" Q8WVP7 "10329000|11090342" MGI:1861746 RGD:1563910 605522 123085 HGNC:13243 "ENST00000353442.10|NM_022458.4" HGNC:13243 +HGNC:18268 LMBR1L limb development membrane protein 1 like protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "FLJ10494|KIAA1174" "limb region 1 homolog (mouse)-like|limb development membrane protein 1-like" 2005-07-25 2016-03-10 2016-03-10 55716 ENSG00000139636 OTTHUMG00000150511 uc001rth.5 AB033000 NM_018113 "CCDS8780|CCDS73466" Q6UX01 "10574461|11287427" MGI:1289247 RGD:1309631 610007 HGNC:18268 "ENST00000267102.13|NM_018113.4" +HGNC:23038 LMBRD1 LMBR1 domain containing 1 protein-coding gene gene with protein product Approved 6q13 06q13 "FLJ11240|bA810I22.1|cblF" C6orf209 chromosome 6 open reading frame 209 2003-11-26 2005-07-25 2005-07-25 2021-04-13 55788 ENSG00000168216 OTTHUMG00000014985 uc003pfa.4 AF113224 NM_018368 "CCDS87415|CCDS4969" Q9NUN5 "19136951|27456980" MGI:1915671 RGD:708471 "LMBRD1 database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=LMBRD1|LRG_1310|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1310.xml" 612625 173562 HGNC:23038 "ENST00000649934.3|NM_018368.4" HGNC:23038 +HGNC:25287 LMBRD2 LMBR1 domain containing 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 DKFZp434H2226 MicroRNA protein coding host genes 1691 2005-07-25 2014-11-19 92255 ENSG00000164187 OTTHUMG00000162150 uc003jka.2 NM_001007527 CCDS34145 Q68DH5 MGI:2444173 RGD:1563920 619490 HGNC:25287 "ENST00000296603.5|NM_001007527.2" HGNC:25287 +HGNC:6633 LMCD1 LIM and cysteine rich domains 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 dyxin LIM domain containing 1218 2000-02-29 2016-01-28 2016-01-28 29995 ENSG00000071282 OTTHUMG00000154971 uc010hci.4 AF169284 NM_014583 "CCDS33688|CCDS63532|CCDS63533|CCDS63534" Q9NZU5 10662546 MGI:1353635 RGD:1308963 604859 HGNC:6633 "ENST00000157600.8|NM_014583.4" +HGNC:44477 LMCD1-AS1 LMCD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p26.1 03p26.1 LMCD1 antisense RNA 1 (head to head) Antisense RNAs 1987 2012-11-05 2018-03-23 2019-07-11 100288428 ENSG00000227110 OTTHUMG00000154968 uc062ggg.1 NR_033378 31278071 LMCD1-AS1 HGNC:44477 +HGNC:14154 LMF1 lipase maturation factor 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ12681|JFP11|FLJ22302|TMEM112A" "C16orf26|TMEM112" "chromosome 16 open reading frame 26|transmembrane protein 112" 2000-12-21 2007-11-29 2007-11-29 2021-05-26 64788 ENSG00000103227 OTTHUMG00000047848 uc059otd.1 AK022743 NM_022773 "CCDS86488|CCDS45373" Q96S06 "11157797|17994020" MGI:1923733 RGD:1310180 611761 269953 HGNC:14154 "ENST00000262301.16|NM_022773.4" HGNC:14154 +HGNC:50469 LMF1-AS1 LMF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2014-04-30 2014-04-30 101929387 ENSG00000260439 OTTHUMG00000172821 NR_110945 LMF1-AS1 HGNC:50469 +HGNC:25096 LMF2 lipase maturation factor 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "TMEM153|TMEM112B" "transmembrane protein 153|transmembrane protein 112B" 2006-05-19 2007-11-29 2007-11-29 2016-04-25 91289 ENSG00000100258 OTTHUMG00000150206 uc003blp.3 BC002942 NM_033200 "CCDS87035|CCDS14093" Q9BU23 12477932 MGI:2146015 RGD:1306274 HGNC:25096 "ENST00000474879.7|NM_033200.3" +HGNC:15991 LMLN leishmanolysin like peptidase protein-coding gene gene with protein product Approved 3q29 03q29 "Gp63|Msp|LMNL1" leishmanolysin-like (metallopeptidase M8 family) 2001-06-28 2016-02-12 2017-08-11 89782 ENSG00000185621 OTTHUMG00000155375 uc011buo.2 AJ312398 NM_033029 "CCDS46988|CCDS3332" Q96KR4 19706689 MGI:2444736 RGD:1311465 609380 M08.003 3.4.24.36 HGNC:15991 +HGNC:40738 LMLN-AS1 LMLN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 LMLN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873947 ENSG00000232832 OTTHUMG00000155374 uc062shf.1 NR_046669 LMLN-AS1 HGNC:40738 +HGNC:6636 LMNA lamin A/C protein-coding gene gene with protein product Approved 1q22 01q22 "HGPS|MADA" mandibuloacral dysplasia type A "LMN1|CMD1A|LGMD1B|PRO1|LMNL1" "cardiomyopathy, dilated 1A (autosomal dominant)|limb girdle muscular dystrophy 1B (autosomal dominant)|progeria 1 (Hutchinson-Gilford type)|lamin A/C-like 1" Lamins 612 1992-04-09 2021-05-26 4000 ENSG00000160789 OTTHUMG00000013961 uc001fni.4 BC014507 NM_170707 "CCDS58038|CCDS1131|CCDS72942|CCDS72941|CCDS1129" P02545 "8511676|8838815|12702809" MGI:96794 RGD:620456 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/LMNA|UMD Locus Specific Databases|http://www.umd.be/|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=LMNA|LRG_254|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_254.xml" LMNA 150330 123090 HGNC:6636 HGNC:6636 "ENST00000368300.9|NM_170707.4" HGNC:6636 +HGNC:6637 LMNB1 lamin B1 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 Lamins 612 1995-03-28 2021-05-26 4001 ENSG00000113368 OTTHUMG00000128969 uc003kud.3 L37737 NM_005573 CCDS4140 P20700 "7557986|8838815" MGI:96795 RGD:620522 150340 123095 HGNC:6637 HGNC:6637 "ENST00000261366.10|NM_005573.4" HGNC:6637 +HGNC:53089 LMNB1-DT LMNB1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Divergent transcripts 1990 2017-08-03 2017-08-03 102723557 ENSG00000251072 OTTHUMG00000163029 NR_134485 HGNC:53089 +HGNC:6638 LMNB2 lamin B2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 LMN2 "Lamins|MicroRNA protein coding host genes" "612|1691" 1992-04-09 2021-12-13 84823 ENSG00000176619 OTTHUMG00000150626 uc002lvy.5 M94362 NM_032737 CCDS12090 Q03252 "1630457|16826530" MGI:96796 RGD:1563803 150341 221339 HGNC:6638 HGNC:6638 "ENST00000325327.4|NM_032737.4" HGNC:6638 +HGNC:26683 LMNTD1 lamin tail domain containing 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "FLJ36004|Pas1c1" IFLTD1 intermediate filament tail domain containing 1 2006-12-04 2014-05-29 2014-05-29 2016-11-16 160492 ENSG00000152936 OTTHUMG00000169052 AK093323 NM_152590 "CCDS44849|CCDS44848|CCDS8704|CCDS58218|CCDS44847" Q8N9Z9 12477932 MGI:1921321 RGD:1560077 617254 HGNC:26683 "ENST00000458174.7|NM_001145728.2" +HGNC:28561 LMNTD2 lamin tail domain containing 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 MGC35138 C11orf35 chromosome 11 open reading frame 35 2005-05-13 2014-05-29 2014-05-29 2015-08-25 256329 ENSG00000185522 OTTHUMG00000132005 NM_173573 CCDS7701 Q8IXW0 12477932 MGI:1919250 RGD:1307439 HGNC:28561 "ENST00000329451.8|NM_173573.3" +HGNC:41204 LMNTD2-AS1 LMNTD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Antisense RNAs 1987 2019-07-24 2019-07-24 692247 ENSG00000254815 OTTHUMG00000165116 NR_147608 HGNC:41204 +HGNC:6641 LMO1 LIM domain only 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "TTG1|RHOM1" RBTN1 rhombotin 1 LIM domain containing 1218 1990-09-10 2015-11-23 2021-04-13 4004 ENSG00000166407 OTTHUMG00000165833 uc001mgg.3 M26682 NM_002315 "CCDS44534|CCDS58118" P25800 "2034676|1703797" MGI:102812 RGD:621166 LRG_508|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_508.xml LMO1 186921 457735 HGNC:6641 "ENST00000335790.8|NM_002315.3" +HGNC:6642 LMO2 LIM domain only 2 protein-coding gene gene with protein product Approved 11p13 11p13 "TTG2|RHOM2|RBTN2" "T-cell translocation gene 2|rhombotin-like 1" RBTNL1 rhombotin-like 1 LIM domain containing 1218 1991-08-21 2015-11-23 2015-11-23 4005 ENSG00000135363 OTTHUMG00000157176 uc001mve.5 X61118 NM_005574 "CCDS44567|CCDS7888" P25791 2034676 MGI:102811 RGD:1307101 LMO2 180385 HGNC:6642 "ENST00000257818.3|NM_005574.4" +HGNC:6643 LMO3 LIM domain only 3 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "Rhom-3|DAT1" RBTNL2 rhombotin-like 2 LIM domain containing 1218 1991-07-11 2015-11-23 2016-10-05 55885 ENSG00000048540 OTTHUMG00000168837 uc058lqc.1 BC026311 NM_018640 "CCDS58211|CCDS58212|CCDS8678|CCDS58210" Q8TAP4 11489251 MGI:102810 RGD:1561357 180386 HGNC:6643 "ENST00000537304.6|NM_018640.5" +HGNC:6644 LMO4 LIM domain only 4 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 LIM domain containing 1218 1998-10-30 2014-11-19 8543 ENSG00000143013 OTTHUMG00000010248 uc001dmi.4 U24576 NM_006769 CCDS713 P61968 MGI:109360 RGD:1305670 603129 HGNC:6644 "ENST00000370544.10|NM_006769.4" +HGNC:6646 LMO7 LIM domain 7 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 "FBX20|KIAA0858" F-box only protein 20 FBXO20 LIM domain only 7 "LIM domain containing|PDZ domain containing" "1218|1220" 1997-05-15 2004-06-15 2014-11-19 4008 ENSG00000136153 OTTHUMG00000017093 uc010thv.4 AF092557 NM_005358 "CCDS9454|CCDS81773|CCDS81774|CCDS53876" Q8WWI1 "9826547|10531035" MGI:1353586 RGD:1302984 604362 HGNC:6646 "ENST00000377534.8|NM_001306080.2" +HGNC:50277 LMO7-AS1 LMO7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q22.2 13q22.2 UCHL3-AS1 UCHL3 antisense RNA 1 Antisense RNAs 1987 2014-03-25 2020-11-11 101927155 ENSG00000261105 OTTHUMG00000172803 AW188034 NR_120410 LMO7-AS1 HGNC:50277 +HGNC:44370 LMO7DN LMO7 downstream neighbor non-coding RNA RNA, long non-coding Approved 13q22.2 13q22.2 C13orf45 chromosome 13 open reading frame 45 Long non-coding RNAs with non-systematic symbols 1992 2012-09-13 2014-03-25 2014-03-25 2021-02-11 729420 ENSG00000178734 OTTHUMG00000187426 AK092698 NR_164111 F2Z398 HGNC:44370 +HGNC:49790 LMO7DN-IT1 LMO7DN intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q22.2 13q22.2 TCONS_00021569 C13orf45-IT1 C13orf45 intronic transcript 1 Intronic transcripts 1989 2014-02-14 2014-03-25 2014-03-25 2018-03-28 104326189 ENSG00000223458 OTTHUMG00000017094 AI825938 NR_126373 LMO7DN-IT1 HGNC:49790 +HGNC:6647 LMOD1 leiomodin 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "64kD|D1|1D|SM-LMOD|SMLMOD" leiomodin 1 (smooth muscle) Leiomodins 2118 2000-03-22 2015-12-18 2021-12-07 25802 ENSG00000163431 OTTHUMG00000035802 uc057oju.1 X54162 NM_012134 CCDS53457 P29536 MGI:2135671 RGD:1307236 602715 HGNC:6647 "ENST00000367288.5|NM_012134.3" HGNC:6647 +HGNC:6648 LMOD2 leiomodin 2 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 leiomodin 2 (cardiac) Leiomodins 2118 2000-03-22 2015-12-18 2015-12-18 442721 ENSG00000170807 OTTHUMG00000157149 uc003vky.3 AC006333 NM_207163 CCDS47693 Q6P5Q4 MGI:2135672 RGD:1592092 608006 HGNC:6648 "ENST00000458573.3|NM_207163.3" +HGNC:6649 LMOD3 leiomodin 3 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 leiomodin 3 (fetal) Leiomodins 2118 2000-07-31 2015-12-18 2021-05-26 56203 ENSG00000163380 OTTHUMG00000158774 uc003dns.3 AK096900 NM_198271 CCDS46862 Q0VAK6 MGI:2444169 RGD:1564924 616112 414069 HGNC:6649 "ENST00000420581.7|NM_198271.5" HGNC:6649 +HGNC:17880 LMTK2 lemur tyrosine kinase 2 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "KIAA1079|KPI2|KPI-2|cprk|LMR2|BREK|AATYK2|PPP1R100" protein phosphatase 1, regulatory subunit 100 "Receptor tyrosine kinases|Protein phosphatase 1 regulatory subunits" "321|694" 2004-01-29 2016-10-05 22853 ENSG00000164715 OTTHUMG00000154256 uc003upd.3 AB029002 NM_014916 CCDS5654 Q8IWU2 15005709 MGI:3036247 RGD:1598332 610989 objectId:2056 HGNC:17880 "ENST00000297293.6|NM_014916.4" +HGNC:19295 LMTK3 lemur tyrosine kinase 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "KIAA1883|LMR3|TYKLM3|PPP1R101" protein phosphatase 1, regulatory subunit 101 "Receptor tyrosine kinases|Protein phosphatase 1 regulatory subunits" "321|694" 2004-01-29 2019-04-16 114783 ENSG00000142235 OTTHUMG00000183312 uc002pjk.3 AB067470 NM_052895 CCDS46136 Q96Q04 MGI:3039582 RGD:1588641 619624 objectId:2057 HGNC:19295 "ENST00000600059.6|NM_001388485.1" +HGNC:6653 LMX1A LIM homeobox transcription factor 1 alpha protein-coding gene gene with protein product Approved 1q23.3 01q23.3 LMX1.1 LMX1 LIM homeobox transcription factor 1, alpha LIM class homeoboxes 522 1994-09-07 2016-02-23 2021-05-26 4009 ENSG00000162761 OTTHUMG00000034575 uc021pdz.1 AY078391 NM_177398 CCDS1247 Q8TE12 7698771 MGI:1888519 RGD:1304784 600298 8460 HGNC:6653 "ENST00000342310.7|NM_177398.4" HGNC:6653 +HGNC:40344 LMX1A-AS1 LMX1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Antisense RNAs 1987 2019-08-16 2019-08-16 102725140 ENSG00000238022 OTTHUMG00000040115 XR_922232 HGNC:40344 +HGNC:40343 LMX1A-AS2 LMX1A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Antisense RNAs 1987 2019-08-16 2019-08-16 105371561 ENSG00000224702 OTTHUMG00000040114 XR_001738275 HGNC:40343 +HGNC:6654 LMX1B LIM homeobox transcription factor 1 beta protein-coding gene gene with protein product Approved 9q33.3 09q33.3 NPS1 LIM homeobox transcription factor 1, beta LIM class homeoboxes 522 1998-02-11 2016-02-23 2021-05-26 4010 ENSG00000136944 OTTHUMG00000020692 uc004bqj.3 U77457 NM_001174146 "CCDS55342|CCDS55343|CCDS6866" O60663 "9441763|9590287" MGI:1100513 RGD:620843 LRG_1014|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1014.xml 602575 8461 123102 HGNC:6654 "ENST00000373474.9|NM_001174147.2" HGNC:6654 +HGNC:55849 LMX1B-DT LMX1B divergent transcript non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 Divergent transcripts 1990 2021-09-01 2021-09-01 105376277 ENSG00000224842 XR_930359 +HGNC:54418 LNC-LBCS lncRNA bladder and prostate cancer suppressor, hnRNPK interacting non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 LBCS low expressed in bladder cancer stem cells Long non-coding RNAs with non-systematic symbols 1992 2019-08-09 2019-08-09 100506885 ENSG00000228412 NR_134649 "30397178|31221168" +HGNC:50913 LNCAROD lncRNA activating regulator of DKK1 non-coding RNA RNA, long non-coding Approved 10q21.1 10q21.1 "lnc-MBL2-4|A-ROD" Activating Regulator of DKK1 LINC01468 long intergenic non-protein coding RNA 1468 Long non-coding RNAs with non-systematic symbols 1992 2014-07-28 2018-06-20 2018-06-20 2018-06-20 101928687 ENSG00000231131 OTTHUMG00000018252 NR_120641 "25045670|29691407" LINC01468 HGNC:50913 +HGNC:53864 LNCARSR lncRNA regulator of Akt signaling associated with HCC and RCC non-coding RNA RNA, long non-coding Approved 9q21.31 09q21.31 lnc-TALC "lncRNA Activated in RCC with Sunitinib Resistance|temozolomide-associated lncRNA in glioblastoma recurrence" Long non-coding RNAs with non-systematic symbols 1992 2018-06-06 2021-07-12 102723932 ENSG00000233086 XR_428556 "27117758|27886176|28464252|29555473|29678744|31053733" +HGNC:54478 LNCATV lncRNA negative regulator of antiviral signaling non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 Long non-coding RNAs with non-systematic symbols 1992 2021-12-01 2021-12-01 101927851 ENSG00000238005 NR_125945 31379885 +HGNC:52752 LNCBRM lncRNA SMARCA2 (BRM) associated non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 "LINCR-0003|lncBRM" lncRNA for association with Brahma (BRM) Antisense RNAs 1987 2022-01-06 2022-01-06 100996645 ENSG00000248294 OTTHUMG00000162503 NR_120607 "27905400|32218861" +HGNC:54855 LNCDAT lncRNA divergent activator of TBXT non-coding RNA RNA, long non-coding Approved 6q27 06q27 YYLNCT Yin Yang long non-coding RNA coded by T (BRACHYURY, TBXT) locus Long non-coding RNAs with non-systematic symbols 1992 2020-04-17 2020-04-17 116804915 ENSG00000288638 NR_166065 30554961 +HGNC:50656 LNCNEF lncRNA neighboring enhancer of FOXA2 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 lncRNA-NEF lncRNA-Neighboring Enhancer of FOXA2 LINC01384 long intergenic non-protein coding RNA 1384 Long non-coding RNAs with non-systematic symbols 1992 2014-06-04 2018-06-27 2018-06-27 2018-06-27 101929685 ENSG00000237396 OTTHUMG00000032044 NR_109883 29311643 LINC01384 HGNC:50656 +HGNC:53947 LNCOC1 lncRNA associated with ovarian cancer 1 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 Lnc-OC1 Long non-coding RNAs with non-systematic symbols 1992 2018-06-20 2018-06-20 100288181 ENSG00000253741 OTTHUMG00000164731 NR_038925 29576507 HGNC:53947 +HGNC:53336 LNCOG lncRNA osteogenesis associated non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 "RP11-54A9.1|lncRNA-OG" osteogenesis-associated lncRNA LINC02407 long intergenic non-protein coding RNA 2407 Long non-coding RNAs with non-systematic symbols 1992 2017-03-22 2018-11-07 2018-11-07 2018-11-07 105369848 ENSG00000257219 OTTHUMG00000169875 NR_146531 30372559 HGNC:53336 +HGNC:54521 LNCPOIR lncRNA periodontal mesenchymal stem cell osteogenesis related non-coding RNA RNA, long non-coding Approved 6q22.1 06q22.1 "POIR|lncRNA-POIR" periodontal mesenchymal stem cell osteogenesis impairment related lncRNA Long non-coding RNAs with non-systematic symbols 1992 2022-03-04 2022-03-04 105377959 ENSG00000232395 XR_942899 27512949 +HGNC:52746 LNCPRESS1 lncRNA p53 regulated and ESC associated 1 non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 lncRNA p53 regulated and ESC specific 1 Long non-coding RNAs with non-systematic symbols 1992 2016-12-14 2020-05-04 101927721 ENSG00000232301 OTTHUMG00000157112 NR_146480 27912097 HGNC:52746 +HGNC:52747 LNCPRESS2 lncRNA p53 regulated and ESC associated 2 non-coding RNA RNA, long non-coding Approved 4q22.1 04q22.1 lncRNA p53 regulated and ESC specific 2 Long non-coding RNAs with non-systematic symbols 1992 2016-12-14 2020-05-04 101929194 ENSG00000249152 OTTHUMG00000160917 NR_125920 27912097 HGNC:52747 +HGNC:53790 LNCRI lncRNA radiation induced regulator of PLK1 and RAD51 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 lnc-RI Long non-coding RNAs with non-systematic symbols 1992 2018-01-04 2018-05-01 401296 XR_007060188 "27160062|29216366" HGNC:53790 +HGNC:52657 LNCRNA-ATB lncRNA activated by TGF-beta non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Long non-coding RNAs with non-systematic symbols 1992 2021-11-15 2021-11-15 114004396 NR_160525 "24768205|27267902" +HGNC:55755 LNCRNA-IUR lncRNA imatinib upregulated non-coding RNA RNA, long non-coding Approved 11q21 11q21 Long non-coding RNAs with non-systematic symbols 1992 2021-11-26 2021-11-26 101929295 ENSG00000245552 NR_110303 30961617 +HGNC:52753 LNCSRLR lncRNA sorafenib resistance in renal cell carcinoma associated non-coding RNA RNA, long non-coding Approved 3q24 03q24 lncRNA-SRLR sorafenib resistance-associated lncRNA in RCC Long non-coding RNAs with non-systematic symbols 1992 2017-02-01 2017-02-01 109729161 ENSG00000240032 OTTHUMG00000159416 NR_146297 27841868 HGNC:52753 +HGNC:52548 LNCTAM34A long non coding transcriptional activator of miR34a non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 GUARDIN LINC01759 long intergenic non-protein coding RNA 1759 Long non-coding RNAs with non-systematic symbols 1992 2016-11-08 2018-07-05 2018-07-05 2020-05-04 102724571 ENSG00000234546 OTTHUMG00000001764 NR_132738 "29593321|29970884" HGNC:52548 +HGNC:56001 LNMICC lncRNA associated with lymph node metastasis in cervical cancer non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 Long non-coding RNAs with non-systematic symbols 1992 2021-11-25 2021-11-25 123706532 ENSG00000254027 29229603 +HGNC:28014 LNP1 leukemia NUP98 fusion partner 1 protein-coding gene gene with protein product Approved 3q12.2 03q12.2 NP3 2005-12-20 2016-06-16 348801 ENSG00000206535 OTTHUMG00000159082 uc003dtx.5 NM_001085451 CCDS43120 A1A4G5 16467868 MGI:5011982 RGD:2323126 HGNC:28014 "ENST00000383693.8|NM_001085451.2" +HGNC:6656 LNPEP leucyl and cystinyl aminopeptidase protein-coding gene gene with protein product Approved 5q15 05q15 "CAP|PLAP|P-LAP|IRAP" "cystinyl aminopeptidase|placental leucine aminopeptidase" leucyl/cystinyl aminopeptidase "Aminopeptidases|M1 metallopeptidases" "104|1437" 1997-07-11 2016-07-11 2016-07-11 4012 ENSG00000113441 OTTHUMG00000128719 uc003kmv.2 D50810 NM_005575 "CCDS4087|CCDS43346" Q9UIQ6 8550619 MGI:2387123 RGD:621752 151300 M01.011 objectId:1570 3.4.11.3 HGNC:6656 "ENST00000231368.10|NM_005575.3" +HGNC:21610 LNPK lunapark, ER junction formation factor protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "Ul|LNP1|LNP" limb and neural patterns KIAA1715 KIAA1715 2003-11-26 2016-07-07 2016-07-07 2018-11-16 80856 ENSG00000144320 OTTHUMG00000154112 uc002ukc.2 AB051502 NM_030650 "CCDS77488|CCDS33332|CCDS77489" Q9C0E8 "11214970|12732147|22729086|25548161" MGI:1918115 RGD:1312042 610236 HGNC:21610 "ENST00000272748.9|NM_030650.3" HGNC:21610 +HGNC:6657 LNX1 ligand of numb-protein X 1 protein-coding gene gene with protein product Approved 4q12 04q12 "MPDZ|PDZRN2" LNX "ligand of numb-protein X|ligand of numb-protein X 1, E3 ubiquitin protein ligase" "Ring finger proteins|PDZ domain containing" "58|1220" 2000-05-31 2005-11-04 2016-04-05 2016-04-05 84708 ENSG00000072201 OTTHUMG00000102099 uc003hag.6 AF237782 NM_001126328 "CCDS3492|CCDS47057" Q8TBB1 "11521506|11782429" MGI:1278335 RGD:1308159 609732 HGNC:6657 "ENST00000263925.8|NM_001126328.3" +HGNC:40345 LNX1-AS1 LNX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q12 04q12 LNX1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 100873939 ENSG00000250930 OTTHUMG00000160644 uc062wpx.1 NR_046622 LNX1-AS1 HGNC:40345 +HGNC:41450 LNX1-AS2 LNX1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 4q12 04q12 LNX1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2014-11-19 100873955 ENSG00000248494 OTTHUMG00000160646 uc031seg.2 NR_046827 LNX1-AS2 HGNC:41450 +HGNC:20421 LNX2 ligand of numb-protein X 2 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 MGC46315 PDZRN1 PDZ domain containing ring finger 1 "Ring finger proteins|PDZ domain containing" "58|1220" 2003-02-06 2004-01-23 2004-01-22 2015-08-25 222484 ENSG00000139517 OTTHUMG00000016634 uc001url.5 AL138699 NM_153371 CCDS9323 Q8N448 MGI:2155959 RGD:1308222 609733 HGNC:20421 "ENST00000316334.5|NM_153371.4" +HGNC:6661 LOH1CR1 loss of heterozygosity on chromosome 1, region 1 other region Approved 1p36.13 01p36.13 1p36 chordoma associated LOH loss of heterozygosity, 1, chromosomal region 1 1998-09-03 2019-10-09 2019-10-09 8377 14506752 +HGNC:26524 LOH12CR2 loss of heterozygosity on chromosome 12, region 2 non-coding RNA RNA, long non-coding Approved 12p13.2 12p13.2 LOH2CR12 loss of heterozygosity, 12, chromosomal region 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2005-03-01 2019-10-09 2019-10-09 503693 ENSG00000205791 OTTHUMG00000187482 uc001rak.4 AY037867 NR_024061 "11896457|15284860" LOH12CR2 HGNC:26524 +HGNC:9479 LONP1 lon peptidase 1, mitochondrial protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "LonHS|hLON|PIM1" Mitochondrial ATP-dependent protease Lon PRSS15 protease, serine, 15 "AAA ATPases|Serine proteases" "413|738" 1999-09-17 2006-10-20 2006-10-20 2021-12-07 9361 ENSG00000196365 OTTHUMG00000180504 uc002mcx.5 U02389 NM_004793 "CCDS62507|CCDS12148|CCDS62508" P36776 "8248235|8119403" MGI:1921392 RGD:621598 605490 420818 S16.002 objectId:3180 3.4.21.53 HGNC:9479 "ENST00000360614.8|NM_004793.4" HGNC:9479 +HGNC:20598 LONP2 lon peptidase 2, peroxisomal protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "MGC4840|LONP|LONPL" AAA ATPases 413 2006-10-20 2014-11-19 83752 ENSG00000102910 OTTHUMG00000133144 uc002efi.2 AJ548761 NM_031490 "CCDS73880|CCDS10734" Q86WA8 14561759 MGI:1914137 RGD:1305466 617774 S16.006 HGNC:20598 "ENST00000285737.9|NM_031490.5" +HGNC:26302 LONRF1 LON peptidase N-terminal domain and ring finger 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "FLJ23749|RNF191" "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2005-08-19 2015-08-25 91694 ENSG00000154359 OTTHUMG00000165475 uc003wwd.2 AK074329 NM_152271 CCDS5987 Q17RB8 18253036 MGI:3609241 RGD:1562583 HGNC:26302 "ENST00000398246.8|NM_152271.5" +HGNC:24788 LONRF2 LON peptidase N-terminal domain and ring finger 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "FLJ45273|RNF192" Ring finger proteins 58 2005-08-19 2014-11-18 164832 ENSG00000170500 OTTHUMG00000130668 uc002tal.4 AK127206 NM_198461 CCDS2046 Q1L5Z9 MGI:1920209 RGD:1562137 HGNC:24788 "ENST00000393437.8|NM_198461.4" +HGNC:39828 LONRF2P1 LONRF2 pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 LON peptidase N-terminal domain and ring finger 2 pseudogene 1 2011-03-30 2019-08-28 2019-08-28 100421827 ENSG00000266605 OTTHUMG00000178699 NG_026274 PGOHUM00000294608 HGNC:39828 +HGNC:39829 LONRF2P2 LONRF2 pseudogene 2 pseudogene pseudogene Approved 13q11 13q11 LON peptidase N-terminal domain and ring finger 2 pseudogene 2 2011-03-30 2019-08-28 2019-08-28 100421799 ENSG00000233905 OTTHUMG00000016457 NG_024885 PGOHUM00000248498 HGNC:39829 +HGNC:54499 LONRF2P3 LONRF2 pseudogene 3 pseudogene pseudogene Approved 15q11.2 15q11.2 2019-08-28 2019-08-28 100421809 ENSG00000258420 OTTHUMG00000171704 NG_025282 PGOHUM00000292797 HGNC:54499 +HGNC:54500 LONRF2P4 LONRF2 pseudogene 4 pseudogene pseudogene Approved 15q11.2 15q11.2 2019-08-28 2019-08-28 100421810 ENSG00000258415 OTTHUMG00000171727 NG_025285 PGOHUM00000292808 HGNC:54500 +HGNC:54501 LONRF2P5 LONRF2 pseudogene 5 pseudogene pseudogene Approved 21q11.2 21q11.2 2019-08-28 2019-08-28 115830330 ENSG00000273692 OTTHUMG00000187952 NG_066472 PGOHUM00000297338 +HGNC:21152 LONRF3 LON peptidase N-terminal domain and ring finger 3 protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ22612 RNF127 ring finger protein 127 Ring finger proteins 58 2003-05-21 2005-08-19 2005-08-19 2020-04-02 79836 ENSG00000175556 OTTHUMG00000022262 uc004eqw.5 AK026265 NM_024778 "CCDS76014|CCDS14575|CCDS35374" Q496Y0 MGI:1921615 RGD:1565451 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LONRF3 HGNC:21152 "ENST00000371628.8|NM_001031855.3" +HGNC:6663 LORICRIN loricrin cornified envelope precursor protein protein-coding gene gene with protein product Approved 1q21.3 01q21.3 LOR loricrin Cornified envelope precursor family 1352 1992-05-05 2019-10-15 2019-10-15 2021-05-26 4014 ENSG00000203782 OTTHUMG00000013938 uc001fbm.4 M61120 NM_000427 CCDS30870 P23490 "2007607|1355480" MGI:96816 RGD:1559993 152445 123105 HGNC:6663 "ENST00000368742.4|NM_000427.3" HGNC:6663 +HGNC:6664 LOX lysyl oxidase protein-coding gene gene with protein product Approved 5q23.1 05q23.1 protein-lysine 6-oxidase 1986-01-01 2018-06-27 4015 ENSG00000113083 OTTHUMG00000128914 uc003ksu.4 NM_001178102 CCDS4129 P28300 1685472 MGI:96817 RGD:3015 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 153455 466397 objectId:3097 1.4.3.13 HGNC:6664 "ENST00000231004.5|NM_002317.7" HGNC:6664 +HGNC:26521 LOXHD1 lipoxygenase homology PLAT domains 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "FLJ32670|LH2D1" DFNB77 "deafness, autosomal recessive 77|lipoxygenase homology domains 1" 2004-04-30 2021-02-11 2021-05-26 125336 ENSG00000167210 OTTHUMG00000132644 uc010xcw.2 AK057232 NM_144612 "CCDS45862|CCDS11929|CCDS77182|CCDS45861|CCDS54184" Q8IVV2 19732867 MGI:1914609 RGD:1304815 613072 221356 HGNC:26521 "ENST00000642948.1|NM_001384474.1" HGNC:26521 +HGNC:6665 LOXL1 lysyl oxidase like 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "LOXL|LOL" lysyl oxidase-like 1 1993-12-08 2015-11-27 2016-10-05 4016 ENSG00000129038 OTTHUMG00000137595 uc002awc.2 L21186 NM_005576 CCDS10253 Q08397 7689553 MGI:106096 RGD:1308752 153456 470612 HGNC:6665 "ENST00000261921.8|NM_005576.4" +HGNC:44169 LOXL1-AS1 LOXL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 LOXL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2019-07-12 100287616 ENSG00000261801 OTTHUMG00000172711 uc059lff.1 AK056885 NR_040066 "29678575|30278884" 616800 LOXL1-AS1 HGNC:44169 +HGNC:6666 LOXL2 lysyl oxidase like 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "WS9-14|LOR" lysyl oxidase-like 2 Scavenger receptor cysteine rich domain containing 1404 1997-11-10 2015-11-27 2017-02-28 4017 ENSG00000134013 OTTHUMG00000163797 uc003xdh.2 U89942 NM_002318 CCDS34864 Q9Y4K0 9722957 MGI:2137913 RGD:1308435 606663 470614 objectId:2853 HGNC:6666 "ENST00000389131.8|NM_002318.3" +HGNC:13869 LOXL3 lysyl oxidase like 3 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 lysyl oxidase-like 3 Scavenger receptor cysteine rich domain containing 1404 2001-06-27 2015-11-27 2016-10-05 84695 ENSG00000115318 OTTHUMG00000129953 uc002smp.3 AF282619 NM_032603 "CCDS74527|CCDS1953" P58215 11386757 MGI:1337004 RGD:1311011 607163 470616 HGNC:13869 "ENST00000264094.8|NM_032603.5" HGNC:13869 +HGNC:17171 LOXL4 lysyl oxidase like 4 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "FLJ21889|LOXC" lysyl oxidase-like 4 Scavenger receptor cysteine rich domain containing 1404 2001-11-14 2015-11-27 2016-10-05 84171 ENSG00000138131 OTTHUMG00000018874 uc001kpa.2 AF338441 NM_032211 CCDS7473 Q96JB6 11292829 MGI:1914823 RGD:1308588 607318 HGNC:17171 "ENST00000260702.4|NM_032211.7" +HGNC:6667 LPA lipoprotein(a) protein-coding gene gene with protein product Approved 6q25.3-q26 06q25.3-q26 Lp(a) apolipoprotein(a) LP lipoprotein, Lp(a) 2001-06-22 2016-04-06 2018-02-13 4018 ENSG00000198670 OTTHUMG00000015956 uc063sqy.1 X06290 NM_005577 CCDS43523 P08519 3670400 MGI:97620 152200 470618 S01.999 HGNC:6667 "ENST00000316300.10|NM_005577.4" +HGNC:6668 LPAL1 lipoprotein(a) like 1 other unknown Approved 6q26-q27 06q26-q27 lipoprotein, Lp(a)-like 1 1994-12-12 2016-06-27 2016-06-27 4019 7679504 +HGNC:21210 LPAL2 lipoprotein(a) like 2, pseudogene pseudogene pseudogene Approved 6q25.3 06q25.3 APOARGC APOAL "apolipoprotein A-like|lipoprotein, Lp(a)-like 2|lipoprotein, Lp(a)-like 2, pseudogene" 2003-11-25 2004-02-18 2016-06-27 2021-10-07 80350 ENSG00000213071 OTTHUMG00000015952 U19517 NR_028092 Q16609 "7749817|7679504" RGD:1597362 611682 HGNC:21210 +HGNC:3166 LPAR1 lysophosphatidic acid receptor 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "edg-2|rec.1.3|vzg-1|Gpcr26|Mrec1.3|LPA1" EDG2 endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2 Lysophosphatidic acid receptors 205 1998-05-15 2008-04-11 2008-04-11 2020-11-26 1902 ENSG00000198121 OTTHUMG00000020486 uc004bfb.4 U80811 NM_057159 CCDS6777 Q92633 "8922387|9070858" MGI:108429 RGD:620563 602282 470620 objectId:272 HGNC:3166 "ENST00000683809.1|NM_001351411.2" +HGNC:3168 LPAR2 lysophosphatidic acid receptor 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "EDG-4|LPA2" EDG4 endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4 Lysophosphatidic acid receptors 205 1999-02-15 2008-04-11 2008-04-11 2019-08-21 9170 ENSG00000064547 OTTHUMG00000182328 uc002nnc.6 AF011466 NM_004720 CCDS12407 Q9HBW0 "9525886|9804623" MGI:1858422 RGD:1561336 605110 objectId:273 HGNC:3168 "ENST00000407877.8|NM_004720.7" +HGNC:14298 LPAR3 lysophosphatidic acid receptor 3 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "LP-A3|Edg-7|RP4-678I3|HOFNH30|LPA3" EDG7 endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7 Lysophosphatidic acid receptors 205 2001-01-02 2008-04-11 2008-04-11 2014-11-19 23566 ENSG00000171517 OTTHUMG00000009925 uc009wcj.2 AF127138 NM_012152 CCDS700 Q9UBY5 10488122 MGI:1929469 RGD:620565 605106 objectId:274 HGNC:14298 "ENST00000370611.4|NM_012152.3" +HGNC:4478 LPAR4 lysophosphatidic acid receptor 4 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "P2Y9|P2Y5-LIKE|P2RY9|LPA4" GPR23 G protein-coupled receptor 23 Lysophosphatidic acid receptors 205 1996-08-16 2008-04-11 2008-04-11 2020-04-02 2846 ENSG00000147145 OTTHUMG00000021895 uc010nme.4 U90322 NM_005296 CCDS14441 Q99677 MGI:1925384 RGD:1563686 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LPAR4 300086 463829 objectId:94 HGNC:4478 "ENST00000614823.5|NM_001278000.3" +HGNC:13307 LPAR5 lysophosphatidic acid receptor 5 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "KPG_010|LPA5" "GPR93|GPR92" G protein-coupled receptor 92 Lysophosphatidic acid receptors 205 2001-11-26 2008-04-11 2008-04-11 2019-08-21 57121 ENSG00000184574 OTTHUMG00000168713 uc001qps.3 AJ272207 NM_020400 CCDS8553 Q9H1C0 "11062477|11574155|16774927|16651401" MGI:2685918 RGD:1562580 606926 objectId:124 HGNC:13307 "ENST00000329858.9|NM_020400.6" +HGNC:15520 LPAR6 lysophosphatidic acid receptor 6 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 P2Y5 P2RY5 purinergic receptor P2Y, G-protein coupled, 5 Lysophosphatidic acid receptors 205 2003-01-28 2009-06-23 2009-06-23 2016-10-05 10161 ENSG00000139679 OTTHUMG00000016895 uc001vcf.4 AF000546 NM_005767 CCDS9410 P43657 "11004484|9755289|19386608" MGI:1914418 RGD:1595950 609239 159166 objectId:163 HGNC:15520 "ENST00000620633.5|NM_001162498.3" HGNC:15520 +HGNC:25718 LPCAT1 lysophosphatidylcholine acyltransferase 1 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FLJ12443|AGPAT9|AGPAT10" AYTL2 acyltransferase like 2 "1-acylglycerol-3-phosphate O-acyltransferases|EF-hand domain containing|MicroRNA protein coding host genes" "46|863|1691" 2005-11-03 2007-12-17 2007-12-17 2015-08-26 79888 ENSG00000153395 OTTHUMG00000131017 uc003jcm.4 BC020166 NM_024830 CCDS3864 Q8NF37 "8619474|16704971|18285344" MGI:2384812 RGD:1311599 610472 "2.3.1.67|2.3.1.23" HGNC:25718 "ENST00000283415.4|NM_024830.5" +HGNC:26032 LPCAT2 lysophosphatidylcholine acyltransferase 2 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "FLJ20481|AGPAT11|LysoPAFAT" AYTL1 acyltransferase like 1 "1-acylglycerol-3-phosphate O-acyltransferases|EF-hand domain containing" "46|863" 2005-11-03 2007-12-17 2007-12-17 2015-08-26 54947 ENSG00000087253 OTTHUMG00000133238 uc002eie.5 AK000488 NM_017839 CCDS10753 Q7L5N7 "16704971|17182612|20363836" MGI:3606214 RGD:2325051 612040 "2.3.1.51|2.3.1.23|2.3.1.67" HGNC:26032 "ENST00000262134.10|NM_017839.5" +HGNC:38003 LPCAT2BP lysophosphatidylcholine acyltransferase 2b, pseudogene pseudogene pseudogene Approved 1p22.1 01p22.1 2010-03-17 2019-12-17 100128094 ENSG00000233228 OTTHUMG00000010112 NG_022792 MGI:1918152 PGOHUM00000244794 HGNC:38003 +HGNC:30244 LPCAT3 lysophosphatidylcholine acyltransferase 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "C3F|nessy" "OACT5|MBOAT5" "O-acyltransferase (membrane bound) domain containing 5|membrane bound O-acyltransferase domain containing 5" Membrane bound O-acyltransferases 1036 2006-01-20 2008-06-24 2008-06-24 2014-11-19 10162 ENSG00000111684 OTTHUMG00000168970 uc001qsi.4 U72515 NM_005768 CCDS8572 Q6P1A2 "8723724|9074930|18195019" MGI:1315211 RGD:1310223 611950 HGNC:30244 "ENST00000261407.9|NM_005768.6" +HGNC:30059 LPCAT4 lysophosphatidylcholine acyltransferase 4 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ10257|LPAAT-eta|LPEAT2" lysophosphatidylethanolamine acyltransferase 2 "AYTL3|AGPAT7" "acyltransferase like 3|1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)" 1-acylglycerol-3-phosphate O-acyltransferases 46 2005-11-03 2008-06-24 2008-06-24 2019-08-20 254531 ENSG00000176454 OTTHUMG00000172349 uc001zig.4 AF542964 NM_153613 CCDS32191 Q643R3 "8619474|9110174|16243729|18458083" MGI:2138993 RGD:1311177 612039 HGNC:30059 "ENST00000314891.11|NM_153613.3" +HGNC:28985 LPGAT1 lysophosphatidylglycerol acyltransferase 1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "KIAA0205|FAM34A1|NET8" FAM34A family with sequence similarity 34, member A 2004-04-05 2004-11-26 2004-11-25 2014-11-19 9926 ENSG00000123684 OTTHUMG00000037120 uc001hiv.3 D86960 NM_014873 CCDS31018 Q92604 "9039502|15485873" MGI:2446186 RGD:1585897 610473 HGNC:28985 "ENST00000366997.9|NM_014873.3" +HGNC:41221 LPGAT1-AS1 LPGAT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Antisense RNAs 1987 2018-09-26 2018-09-26 102723727 ENSG00000229258 OTTHUMG00000037122 NR_135818 HGNC:41221 +HGNC:31402 LPGAT1P1 lysophosphatidylglycerol acyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 8p12 08p12 "FAM34BP|FAM34A2P" family with sequence similarity 34, member A2 pseudogene 2004-04-05 2004-11-25 2004-11-25 2014-11-19 100129398 NG_022384 HGNC:31402 +HGNC:13345 LPIN1 lipin 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 KIAA0188 phosphatidate phosphatase LPIN1 "Lipins|MicroRNA protein coding host genes" "1043|1691" 2001-01-24 2021-05-26 23175 ENSG00000134324 OTTHUMG00000119082 uc002rbt.5 D80010 NM_145693 "CCDS58699|CCDS58701|CCDS1682" Q14693 "11138012|8724849|16950137|27344312" MGI:1891340 RGD:1307646 605518 169944 objectId:1435 3.1.3.4 HGNC:13345 "ENST00000674199.1|NM_001349206.2" HGNC:13345 +HGNC:14450 LPIN2 lipin 2 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 KIAA0249 Lipins 1043 2001-01-24 2021-05-26 9663 ENSG00000101577 OTTHUMG00000131508 uc002klo.3 D87436 NM_014646 CCDS11829 Q92539 "11138012|9039502" MGI:1891341 RGD:1304588 "INFEVERS: The repertory of Familial Mediterranean Fever & Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_174|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_174.xml" 605519 123109 objectId:1436 3.1.3.4 HGNC:14450 "ENST00000677752.1|NM_001375808.2" HGNC:14450 +HGNC:14451 LPIN3 lipin 3 protein-coding gene gene with protein product Approved 20q12 20q12 SMP2 LIPN3L lipin 3-like Lipins 1043 2001-01-24 2002-05-23 2016-10-05 64900 ENSG00000132793 OTTHUMG00000033056 uc284pre.1 AL132654 NM_022896 CCDS33469 Q9BQK8 11138012 MGI:1891342 RGD:1588534 605520 objectId:1437 3.1.3.4 HGNC:14451 "ENST00000373257.8|NM_022896.3" +HGNC:6677 LPL lipoprotein lipase protein-coding gene gene with protein product Approved 8p21.3 08p21.3 LIPD Lipases 464 2001-06-22 2021-04-13 4023 ENSG00000175445 OTTHUMG00000036645 uc003wzk.5 NM_000237 CCDS6012 P06858 "3823907|3597382|3692485" MGI:96820 RGD:3017 LRG_1298|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1298.xml 609708 123112 3.1.1.34 HGNC:6677 "ENST00000650287.1|NM_000237.3" HGNC:6677 +HGNC:6678 LPO lactoperoxidase protein-coding gene gene with protein product Approved 17q22 17q22 SPO 1992-09-23 2016-10-24 4025 ENSG00000167419 OTTHUMG00000178921 uc002ivt.3 M58151 NM_001160102 "CCDS32689|CCDS54149" P22079 "2222811|8964511" MGI:1923363 RGD:1310051 150205 1.11.1.7 HGNC:6678 "ENST00000262290.9|NM_006151.3" +HGNC:6679 LPP LIM domain containing preferred translocation partner in lipoma protein-coding gene gene with protein product Approved 3q27.3-q28 03q27.3-q28 lipoma preferred partner gene LIM domain-containing preferred translocation partner in lipoma "Zyxin family|MicroRNA protein coding host genes" "1402|1691" 1996-07-19 2002-01-14 2018-02-13 4026 ENSG00000145012 OTTHUMG00000156387 uc032sne.1 AL833171 NM_005578 CCDS3291 Q93052 8812423 MGI:2441849 RGD:1310535 LPP 600700 HGNC:6679 "ENST00000617246.5|NM_001375462.1" +HGNC:40346 LPP-AS1 LPP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 LPP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873917 ENSG00000224563 OTTHUMG00000156388 uc032sng.2 NR_046623 LPP-AS1 HGNC:40346 +HGNC:27952 LPP-AS2 LPP antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q27.3 03q27.3 "MYCLo-5|MYCLo-6" LPP antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2022-01-10 339929 ENSG00000270959 OTTHUMG00000185119 uc021xip.2 BC042414 NR_036497 25663692 LPP-AS2 HGNC:27952 +HGNC:14061 LPXN leupaxin protein-coding gene gene with protein product Approved 11q12.1 11q12.1 LDPL LIM domain containing 1218 2000-11-28 2014-11-19 9404 ENSG00000110031 OTTHUMG00000167466 uc001nmw.4 AF062075 NM_004811 "CCDS53635|CCDS76407|CCDS7969" O60711 9565592 MGI:2147677 RGD:1304981 605390 HGNC:14061 "ENST00000395074.7|NM_004811.3" +HGNC:6685 LRAT lecithin retinol acyltransferase protein-coding gene gene with protein product Approved 4q32.1 04q32.1 LCA14 phosphatidylcholine--retinol O-acyltransferase lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) LRAT domain containing family 1692 1999-02-16 2017-08-04 2021-05-26 9227 ENSG00000121207 OTTHUMG00000161418 uc063akh.1 AF071510 NM_004744 CCDS3789 O95237 9920938 MGI:1891259 RGD:68362 Mutations of the Lecithin Retinol Acyltransferase Gene|http://www.retina-international.org/files/sci-news/lratmut.htm 604863 168360 2.3.1.135 HGNC:6685 "ENST00000336356.4|NM_004744.5" HGNC:6685 +HGNC:20743 LRATD1 LRAT domain containing 1 protein-coding gene gene with protein product Approved 2p24.3 02p24.3 "NSE1|FLJ35392" neurological/sensory 1 FAM84A family with sequence similarity 84 member A LRAT domain containing family 1692 2005-07-28 2019-03-01 2019-03-01 2019-05-02 151354 ENSG00000162981 OTTHUMG00000119093 uc002rbz.3 "AJ417080|BC026346" NM_145175 CCDS1684 Q96KN4 14702039 MGI:2145011 RGD:1305779 611234 HGNC:20743 "ENST00000295092.3|NM_145175.4" +HGNC:24166 LRATD2 LRAT domain containing 2 protein-coding gene gene with protein product Approved 8q24.21 08q24.21 "BCMP101|NSE2" "breast cancer membrane-associated protein 101|neurological/sensory 2" FAM84B family with sequence similarity 84 member B LRAT domain containing family 1692 2005-07-28 2019-03-01 2019-03-01 2019-06-28 157638 ENSG00000168672 OTTHUMG00000165034 uc003yrz.3 AJ417849 NM_174911 CCDS6358 Q96KN1 25980316 MGI:3026924 RGD:1562236 609483 HGNC:24166 "ENST00000304916.4|NM_174911.5" +HGNC:1742 LRBA LPS responsive beige-like anchor protein protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "BGL|LAB300|LBA" CDC4L LPS-responsive vesicle trafficking, beach and anchor containing "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 1992-02-14 2001-10-05 2016-03-01 2021-04-13 987 ENSG00000198589 OTTHUMG00000161443 uc003ilu.5 AF216648 NM_001199282 "CCDS58928|CCDS3773" P50851 "1505956|11254716" MGI:1933162 RGD:1311428 LRG_1324|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1324.xml 606453 303168 HGNC:1742 "ENST00000651943.2|NM_001364905.1" HGNC:1742 +HGNC:20309 LRCH1 leucine rich repeats and calponin homology domain containing 1 protein-coding gene gene with protein product Approved 13q14.13-q14.2 13q14.13-q14.2 KIAA1016 CHDC1 "calponin homology (CH) domain containing 1|leucine-rich repeats and calponin homology (CH) domain containing 1" 2003-01-24 2004-05-28 2016-06-06 2018-02-13 23143 ENSG00000136141 OTTHUMG00000016877 uc001vbj.4 AB023233 NM_015116 "CCDS53865|CCDS53866|CCDS31972" Q9Y2L9 10231032 MGI:2443390 RGD:1595678 610368 HGNC:20309 "ENST00000389797.8|NM_001164211.2" +HGNC:29292 LRCH2 leucine rich repeats and calponin homology domain containing 2 protein-coding gene gene with protein product Approved Xq23 Xq23 KIAA1495 leucine-rich repeats and calponin homology (CH) domain containing 2 2004-05-27 2016-06-06 2020-04-02 57631 ENSG00000130224 OTTHUMG00000022233 uc010nqe.4 AB040928 NM_020871 "CCDS48155|CCDS59175" Q5VUJ6 10819331 MGI:2147870 RGD:1590569 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LRCH2 HGNC:29292 "ENST00000317135.13|NM_020871.4" +HGNC:28637 LRCH3 leucine rich repeats and calponin homology domain containing 3 protein-coding gene gene with protein product Approved 3q29 03q29 MGC4126 leucine-rich repeats and calponin homology (CH) domain containing 3 2004-06-03 2016-06-06 2016-06-06 84859 ENSG00000186001 OTTHUMG00000155378 uc011bul.2 AL137527 NM_032773 "CCDS87193|CCDS3330" Q96II8 12477932 MGI:1917394 RGD:1306200 HGNC:28637 "ENST00000425562.7|NM_001365715.1" +HGNC:6691 LRCH4 leucine rich repeats and calponin homology domain containing 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "LRN|LRRN1" leucine-rich repeats and calponin homology (CH) domain containing 4 1998-06-03 2004-05-28 2016-06-06 2019-02-11 4034 ENSG00000077454 OTTHUMG00000159544 uc003uvj.4 AF053356 NM_002319 CCDS34706 O75427 "9799793|30523158" MGI:1917193 RGD:1306145 HGNC:6691 "ENST00000310300.11|NM_002319.5" +HGNC:44160 LRCOL1 leucine rich colipase like 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 2012-07-02 2016-06-06 2016-06-06 100507055 ENSG00000204583 OTTHUMG00000168043 uc021rgr.2 NM_001195520 CCDS73547 A6NCL2 MGI:2686525 RGD:2323402 HGNC:44160 "ENST00000376608.9|NM_001195520.2" +HGNC:29290 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "KIAA1484|SALM2" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2004-02-02 2019-08-20 57622 ENSG00000128011 OTTHUMG00000182808 uc002okw.3 BC014678 NM_020862 CCDS46071 Q9P244 "10819331|16828986" MGI:2136810 RGD:1304707 612807 HGNC:29290 "ENST00000248668.5|NM_020862.2" +HGNC:21226 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 protein-coding gene gene with protein product Approved 6p21.2-p21.1 06p21.2-p21.1 FIGLER2 fibronectin type III, immunoglobulin and leucine rich repeat domains 2 "KIAA1246|SALM1" KIAA1246 "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2003-11-21 2004-02-04 2004-02-02 2018-11-16 57497 ENSG00000156564 OTTHUMG00000014662 uc003oph.2 AB033072 NM_020737 CCDS34443 Q9ULH4 "16495444|16828986" MGI:1917780 RGD:1311831 612808 HGNC:21226 "ENST00000338305.7|NM_020737.3" +HGNC:28370 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "MGC2656|SALM4|FIGLER1" fibronectin type III, immunoglobulin and leucine rich repeat domains 1 "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2004-02-02 2020-04-01 79414 ENSG00000126243 OTTHUMG00000181740 uc002oco.4 BC003578 NM_024509 CCDS12483 Q9BTN0 "12975309|16495444|16828986" MGI:2442512 RGD:1305567 612809 HGNC:28370 "ENST00000246529.4|NM_024509.2" +HGNC:28456 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "MGC3103|SALM3.|FIGLER6" fibronectin type III, immunoglobulin and leucine rich repeat domains 6 "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2004-02-02 2020-04-01 78999 ENSG00000173621 OTTHUMG00000167100 uc001ojr.4 BC007718 NM_024036 CCDS8153 Q6PJG9 "16495444|16828986" MGI:2385612 RGD:1585286 612810 HGNC:28456 "ENST00000309602.5|NM_024036.5" +HGNC:20360 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 "FIGLER8|SALM5" fibronectin type III, immunoglobulin and leucine rich repeat domains 8 C14orf146 chromosome 14 open reading frame 146 "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2003-01-28 2004-02-04 2004-02-02 2014-11-19 145581 ENSG00000165379 OTTHUMG00000140261 uc001wvm.5 AK055365 NM_152447 "CCDS81800|CCDS9678" Q96NI6 16828986 MGI:2144814 RGD:1309357 612811 HGNC:20360 "ENST00000298119.9|NM_152447.5" +HGNC:55444 LRFN5-DT LRFN5 divergent transcript non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Divergent transcripts 1990 2021-01-14 2021-01-14 105370469 ENSG00000258636 XR_001750740 +HGNC:29480 LRG1 leucine rich alpha-2-glycoprotein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 LRG leucine rich alpha 2 glycoprotein 2004-02-12 2016-06-06 2016-06-06 116844 ENSG00000171236 OTTHUMG00000182010 uc002mau.4 NM_052972 CCDS12130 P02750 "3856868|12223515" MGI:1924155 RGD:1359464 611289 HGNC:29480 "ENST00000306390.7|NM_052972.3" +HGNC:21964 LRGUK leucine rich repeats and guanylate kinase domain containing protein-coding gene gene with protein product Approved 7q33 07q33 "FLJ32786|CFAP246" Cilia and flagella associated 1491 2006-10-27 2016-06-06 2016-06-06 136332 ENSG00000155530 OTTHUMG00000155320 uc003vrm.2 AK057348 NM_144648 CCDS5830 Q96M69 25781171 MGI:1921604 RGD:1308226 616478 HGNC:21964 +HGNC:30299 LRIF1 ligand dependent nuclear receptor interacting factor 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "RIF1|FLJ11269" receptor interacting factor 1 C1orf103 chromosome 1 open reading frame 103 2005-06-03 2011-04-15 2011-04-15 2017-08-03 55791 ENSG00000121931 OTTHUMG00000011913 uc001eaa.4 AY190122 NM_018372 "CCDS41366|CCDS30800" Q5T3J3 17455211 MGI:2445214 RGD:1306520 615354 HGNC:30299 "ENST00000369763.5|NM_018372.4" +HGNC:17360 LRIG1 leucine rich repeats and immunoglobulin like domains 1 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "LIG-1|DKFZP586O1624|LIG1" "ortholog of mouse integral membrane glycoprotein LIG-1|leucine-rich repeat protein LRIG1" I-set domain containing 593 2002-08-23 2016-06-06 2016-10-05 26018 ENSG00000144749 OTTHUMG00000158727 uc003dmx.4 AB050468 NM_015541 CCDS33783 Q96JA1 "11414704|12234026" MGI:107935 RGD:1306788 608868 470606 HGNC:17360 "ENST00000273261.8|NM_015541.3" +HGNC:20889 LRIG2 leucine rich repeats and immunoglobulin like domains 2 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 KIAA0806 I-set domain containing 593 2003-04-25 2016-06-06 2016-10-05 9860 ENSG00000198799 OTTHUMG00000012133 uc001edf.2 AB018349 NM_014813 CCDS30808 O94898 MGI:2443718 RGD:1309554 608869 328676 HGNC:20889 "ENST00000361127.6|NM_014813.3" HGNC:20889 +HGNC:54312 LRIG2-DT LRIG2 divergent transcript non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Divergent transcripts 1990 2019-05-03 2019-05-03 100996251 ENSG00000238198 NR_103777 HGNC:54312 +HGNC:30991 LRIG3 leucine rich repeats and immunoglobulin like domains 3 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "FLJ90440|KIAA3016" I-set domain containing 593 2004-04-30 2016-06-06 2016-06-06 121227 ENSG00000139263 OTTHUMG00000169940 uc001sqr.5 AY505340 NM_153377 "CCDS8960|CCDS44933" Q6UXM1 MGI:2443955 RGD:1561255 LRIG3 608870 HGNC:30991 "ENST00000320743.8|NM_153377.5" +HGNC:55476 LRIG3-DT LRIG3 divergent transcript non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 Divergent transcripts 1990 2021-03-11 2021-03-11 105369791 ENSG00000257443 XR_001749167 +HGNC:23404 LRIT1 leucine rich repeat, Ig-like and transmembrane domains 1 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "PAL|DKFZP434K091|FIGLER9" fibronectin type III, immunoglobulin and leucine rich repeat domains 9 LRRC21 leucine rich repeat containing 21 "Fibronectin type III domain containing|I-set domain containing" "555|593" 2003-11-17 2007-06-19 2016-06-06 2016-10-05 26103 ENSG00000148602 OTTHUMG00000018632 uc001kcz.2 AB031547 NM_015613 CCDS7373 Q9P2V4 10777785 MGI:2385320 RGD:628607 616103 HGNC:23404 "ENST00000372105.4|NM_015613.3" +HGNC:23443 LRIT2 leucine rich repeat, Ig-like and transmembrane domains 2 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 AC022389.4 LRRC22 leucine rich repeat containing 22 I-set domain containing 593 2004-06-02 2007-06-19 2016-06-06 2018-11-16 340745 ENSG00000204033 OTTHUMG00000018633 uc001kcy.5 NM_001284223 "CCDS31234|CCDS60581" A6NDA9 MGI:2444885 RGD:1564668 HGNC:23443 "ENST00000372113.7|NM_001017924.5" +HGNC:24783 LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 protein-coding gene gene with protein product Approved 4q25 04q25 "FLJ44691|FIGLER4|CSNB1F" fibronectin type III, immunoglobulin and leucine rich repeat domains 4 I-set domain containing 593 2007-06-19 2016-06-06 2016-06-06 345193 ENSG00000183423 OTTHUMG00000132043 uc031sgv.2 AK126648 NM_198506 CCDS3688 Q3SXY7 MGI:2685267 RGD:1559637 615004 322104 HGNC:24783 "ENST00000594814.6|NM_198506.5" HGNC:24783 +HGNC:23405 LRMDA leucine rich melanocyte differentiation associated protein-coding gene gene with protein product Approved 10q22.2-q22.3 10q22.2-q22.3 "CDA017|OCA7" oculocutaneous albinism 7, autosomal recessive C10orf11 chromosome 10 open reading frame 11 MicroRNA protein coding host genes 1691 2004-01-15 2017-04-05 2017-04-05 2018-02-13 83938 ENSG00000148655 OTTHUMG00000018532 uc001jxi.4 AF267860 NM_032024 "CCDS7351|CCDS76319" Q9H2I8 23395477 MGI:1923883 RGD:1596707 614537 354069 HGNC:23405 "ENST00000611255.5|NM_001305581.2" HGNC:23405 +HGNC:6692 LRP1 LDL receptor related protein 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "LRP|CD91|LRP1A|APOER|IGFBP3R1|IGFBP-3R" transforming growth factor-β receptor type V "APR|A2MR" "alpha-2-macroglobulin receptor|low density lipoprotein receptor-related protein 1" "CD molecules|Low density lipoprotein receptors|MicroRNA protein coding host genes" "471|634|1691" 1991-08-21 2015-11-13 2021-07-30 4035 ENSG00000123384 OTTHUMG00000044412 uc001snd.4 X13916 NM_002332 CCDS8932 Q07954 2548950 MGI:96828 RGD:1307535 107770 448482 CD91 HGNC:6692 "ENST00000243077.8|NM_002332.3" HGNC:6692 +HGNC:51694 LRP1-AS LRP1 antisense RNA non-coding RNA RNA, long non-coding Approved 12q13.3 12q13.3 Antisense RNAs 1987 2015-05-07 2015-05-19 2018-08-23 105751187 ENSG00000259125 OTTHUMG00000171280 NR_131938 25937287 LRP1-AS HGNC:51694 +HGNC:6693 LRP1B LDL receptor related protein 1B protein-coding gene gene with protein product Approved 2q22.1-q22.2 02q22.1-q22.2 "LRP-DIT|LRPDIT" LRP-deleted in tumors low density lipoprotein receptor-related protein 1B Low density lipoprotein receptors 634 2000-05-02 2015-11-13 2018-02-13 53353 ENSG00000168702 OTTHUMG00000131799 uc002tvj.2 AF176832 NM_018557 CCDS2182 Q9NZR2 10766186 MGI:2151136 LRP1B 608766 HGNC:6693 "ENST00000389484.8|NM_018557.3" +HGNC:6694 LRP2 LDL receptor related protein 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "gp330|DBS" megalin low density lipoprotein receptor-related protein 2 Low density lipoprotein receptors 634 1994-05-04 2015-11-13 2021-04-13 4036 ENSG00000081479 OTTHUMG00000132179 uc002ues.4 NM_004525 CCDS2232 P98164 7959795 MGI:95794 RGD:68407 LRG_1300|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1300.xml 600073 159747 HGNC:6694 "ENST00000649046.1|NM_004525.3" HGNC:6694 +HGNC:25434 LRP2BP LRP2 binding protein protein-coding gene gene with protein product Approved 4q35.1 04q35.1 DKFZp761O0113 2005-02-23 2014-11-18 55805 ENSG00000109771 OTTHUMG00000160460 uc032ugv.2 AB037746 NM_018409 CCDS3840 Q9P2M1 "10718198|12508107" MGI:1914870 RGD:1305896 619020 HGNC:25434 "ENST00000505916.6|NM_001377440.1" +HGNC:55998 LRP2BP-AS1 LRP2BP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 RP11-714G18.1 Antisense RNAs 1987 2021-11-18 2021-11-18 107986206 ENSG00000250410 29363163 +HGNC:6695 LRP3 LDL receptor related protein 3 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "LRP-3|hLRp105" low density lipoprotein receptor-related protein 3 Low density lipoprotein receptors 634 1998-03-02 2015-11-13 2015-11-13 4037 ENSG00000130881 OTTHUMG00000180343 uc010edh.4 AB009462 NM_002333 CCDS12430 O75074 "9693042|7959795" MGI:3584516 RGD:619729 603159 HGNC:6695 "ENST00000253193.9|NM_002333.4" +HGNC:6696 LRP4 LDL receptor related protein 4 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "MEGF7|CLSS|LRP-4|SOST2" low density lipoprotein receptor-related protein 4 Low density lipoprotein receptors 634 1998-03-25 2015-11-13 2015-11-13 4038 ENSG00000134569 OTTHUMG00000166700 uc001ndn.5 AB011540 NM_002334 CCDS31478 O75096 9693030 MGI:2442252 RGD:619731 604270 233032 ligandId:5320 HGNC:6696 "ENST00000378623.6|NM_002334.4" HGNC:6696 +HGNC:44128 LRP4-AS1 LRP4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 LRP4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507401 ENSG00000247675 OTTHUMG00000166699 uc001ndl.4 NR_038909 LRP4-AS1 HGNC:44128 +HGNC:6697 LRP5 LDL receptor related protein 5 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "LR3|BMND1|HBM|OPS|OPTA1|VBCH2|EVR4" "LRP7|OPPG|EVR1" "osteoporosis pseudoglioma syndrome|exudative vitreoretinopathy 1|low density lipoprotein receptor-related protein 5" Low density lipoprotein receptors 634 1998-04-07 2015-11-13 2020-04-02 4041 ENSG00000162337 OTTHUMG00000167570 uc001ont.4 AF064548 NM_002335 CCDS8181 O75197 "9714764|10049586" MGI:1278315 RGD:1309329 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LRP5 603506 123115 HGNC:6697 "ENST00000294304.12|NM_002335.4" HGNC:6697 +HGNC:25323 LRP5L LDL receptor related protein 5 like protein-coding gene gene with protein product Approved 22q11.23 22q11.23 DKFZp434O0213 low density lipoprotein receptor-related protein 5-like 2005-10-09 2015-11-13 2015-11-13 91355 ENSG00000100068 OTTHUMG00000150900 uc011ajz.3 AL137651 NM_182492 CCDS33626 A4QPB2 HGNC:25323 +HGNC:6698 LRP6 LDL receptor related protein 6 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 ADCAD2 low density lipoprotein receptor-related protein 6 Low density lipoprotein receptors 634 1998-04-07 2015-11-13 2015-11-13 4040 ENSG00000070018 OTTHUMG00000168540 uc001rah.6 AF074264 NM_002336 CCDS8647 O75581 9704021 MGI:1298218 RGD:1304749 603507 159752 HGNC:6698 "ENST00000261349.9|NM_002336.3" HGNC:6698 +HGNC:6700 LRP8 LDL receptor related protein 8 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "APOER2|MCI1|LRP-8|HSZ75190" low density lipoprotein receptor-related protein 8, apolipoprotein e receptor Low density lipoprotein receptors 634 1998-08-13 2015-11-13 2015-11-13 7804 ENSG00000157193 OTTHUMG00000008924 uc001cvi.4 D50678 NM_004631 "CCDS578|CCDS580|CCDS30720|CCDS579" Q14114 "8626535|9079678" MGI:1340044 RGD:1305729 602600 HGNC:6700 "ENST00000306052.12|NM_004631.5" HGNC:6700 +HGNC:52561 LRP8-DT LRP8 divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 LINC01771 long intergenic non-protein coding RNA 1771 Divergent transcripts 1990 2016-11-08 2021-08-12 2021-08-12 2021-08-12 105378732 ENSG00000225675 OTTHUMG00000008948 NR_131923 HGNC:52561 +HGNC:14553 LRP10 LDL receptor related protein 10 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "DKFZP564C1940|MGC8675|LRP9|MST087|MSTP087" low density lipoprotein receptor-related protein 10 Low density lipoprotein receptors 634 2002-09-09 2015-11-13 2015-11-13 26020 ENSG00000197324 OTTHUMG00000028705 uc001whd.4 AF131760 NM_001329226 "CCDS9578|CCDS86372" Q7Z4F1 11123907 MGI:1929480 RGD:1310471 609921 HGNC:14553 "ENST00000359591.9|NM_014045.5" +HGNC:16936 LRP11 LDL receptor related protein 11 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "bA350J20.3|MANSC3" low density lipoprotein receptor-related protein 11 Low density lipoprotein receptors 634 2003-04-15 2015-11-13 2016-10-05 84918 ENSG00000120256 OTTHUMG00000015801 uc003qng.3 AK027641 NM_032832 CCDS5220 Q86VZ4 MGI:2442989 RGD:1308602 HGNC:16936 "ENST00000239367.7|NM_032832.6" +HGNC:31708 LRP12 LDL receptor related protein 12 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "ST7|FLJ12929" low density lipoprotein receptor-related protein 12 Low density lipoprotein receptors 634 2004-07-06 2015-11-13 2016-10-05 29967 ENSG00000147650 OTTHUMG00000164892 uc003yma.4 AF166350 NM_013437 "CCDS6303|CCDS47907" Q9Y561 "12809483|14676824" MGI:2443132 RGD:1304943 618299 HGNC:31708 "ENST00000276654.10|NM_013437.5" +HGNC:6701 LRPAP1 LDL receptor related protein associated protein 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 HBP44 "A2MRAP|RAP" "low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)|low density lipoprotein receptor-related protein associated protein 1" 1993-07-13 2015-11-13 2021-04-13 4043 ENSG00000163956 OTTHUMG00000090299 uc003ghh.5 NM_002337 CCDS3371 P30533 "1712782|7538675|7789983" MGI:96829 RGD:620700 LRG_1299|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1299.xml 104225 363060 HGNC:6701 "ENST00000650182.1|NM_002337.4" HGNC:6701 +HGNC:15714 LRPPRC leucine rich pentatricopeptide repeat containing protein-coding gene gene with protein product Approved 2p21 02p21 "GP130|LRP130" LSFC Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency) "Mitochondrial respiratory chain complex assembly factors|Pentatricopeptide repeat containing" "645|1823" 2001-06-04 2015-11-27 2015-11-27 10128 ENSG00000138095 OTTHUMG00000152782 uc002rtr.3 M92439 NM_133259 CCDS33189 P42704 "8012652|8619474|22045337" MGI:1919666 RGD:1306575 607544 123124 HGNC:15714 "ENST00000260665.12|NM_133259.4" HGNC:15714 +HGNC:19742 LRR1 leucine rich repeat protein 1 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "MGC20689|LRR-1" LRR-repeat protein 1 PPIL5 peptidylprolyl isomerase (cyclophilin)-like 5 Cyclophilin peptidylprolyl isomerases 909 2002-11-20 2011-02-02 2011-02-02 2014-11-18 122769 ENSG00000165501 OTTHUMG00000140273 uc001wwn.3 BC030142 NM_203467 "CCDS9686|CCDS9687" Q96L50 "11804328|21074724" MGI:1916956 RGD:1589026 609193 HGNC:19742 "ENST00000298288.11|NM_152329.4" +HGNC:14307 LRRC1 leucine rich repeat containing 1 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "dJ523E19.1|LANO|FLJ10775|FLJ11834" leucine-rich repeat-containing 1 2001-01-04 2003-11-19 2016-10-05 55227 ENSG00000137269 OTTHUMG00000014885 uc003pcd.2 AF332199 NM_025168 CCDS4953 Q9BTT6 MGI:2442313 RGD:1549773 608195 HGNC:14307 "ENST00000370888.6|NM_018214.5" +HGNC:14676 LRRC2 leucine rich repeat containing 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 leucine-rich repeat-containing 2 2001-03-06 2003-11-19 2016-10-05 79442 ENSG00000163827 OTTHUMG00000133479 uc003cpu.5 AJ308569 NM_024512 CCDS2741 Q9BYS8 11896456 MGI:1921499 RGD:1311716 607180 HGNC:14676 "ENST00000395905.8|NM_024512.5" +HGNC:15571 LRRC2-AS1 LRRC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.3 03p21.3 "LUZP3|LUZPP1|LUZP3P" "leucine zipper protein pseudogene 1|leucine zipper protein 3, pseudogene" Antisense RNAs 1987 2001-04-24 2012-10-29 2012-10-29 2014-11-19 83598 ENSG00000268324 OTTHUMG00000187144 uc031rzg.2 AJ312775 NR_073385 LRRC2-AS1 HGNC:15571 +HGNC:54785 LRRC2P1 LRRC2 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 2020-01-08 2020-01-08 644158 ENSG00000227180 NG_021538 +HGNC:14965 LRRC3 leucine rich repeat containing 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 DKFZP434C128 "C21orf102|LRRC3DN|C21orf30" "chromosome 21 open reading frame 102|LRRC3 downstream neighbor|chromosome 21 open reading frame 30|LRRC3 downstream neighbor (non-protein coding)" 2001-03-30 2002-06-20 2019-02-27 81543 ENSG00000160233 OTTHUMG00000040847 uc002zfa.4 AB058646 NM_030891 CCDS13711 Q9BY71 12036297 MGI:2447899 RGD:628861 617620 HGNC:14965 "ENST00000291592.6|NM_030891.6" +HGNC:43636 LRRC3-DT LRRC3 divergent transcript non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 LRRC3-AS1 "LRRC3 antisense RNA 1 (non-protein coding)|LRRC3 antisense RNA 1|LRRC3 antisense RNA 1 (head to head)" Divergent transcripts 1990 2011-12-07 2018-03-23 2018-03-23 2018-03-23 100861510 ENSG00000229356 OTTHUMG00000040842 uc031rvy.1 "AA725743|BM703952" NR_047476 LRRC3-AS1 HGNC:43636 +HGNC:28105 LRRC3B leucine rich repeat containing 3B protein-coding gene gene with protein product Approved 3p24.1 03p24.1 LRP15 2004-07-12 2016-10-05 116135 ENSG00000179796 OTTHUMG00000130572 uc003cdp.4 AF396933 NM_052953 CCDS2644 Q96PB8 MGI:2384996 RGD:1311897 618996 HGNC:28105 +HGNC:55847 LRRC3B-AS1 LRRC3B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 Antisense RNAs 1987 2021-08-13 2021-08-13 105377003 ENSG00000225386 XR_940664 +HGNC:40034 LRRC3C leucine rich repeat containing 3C protein-coding gene gene with protein product Approved 17q21.1 17q21.1 2011-05-05 2015-09-03 100505591 ENSG00000204913 OTTHUMG00000179521 uc021twv.2 NM_001195545 CCDS54121 A6NJW4 MGI:2684858 RGD:1563281 HGNC:40034 "ENST00000377924.6|NM_001195545.2" +HGNC:15586 LRRC4 leucine rich repeat containing 4 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 NAG14 leucine-rich repeat-containing 4 "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 2001-06-01 2003-11-19 2016-10-05 64101 ENSG00000128594 OTTHUMG00000157563 uc003vmk.4 AF196976 NM_022143 CCDS5799 Q9HBW1 12969517 MGI:2182081 RGD:1560026 610486 HGNC:15586 "ENST00000249363.4|NM_022143.5" +HGNC:25042 LRRC4B leucine rich repeat containing 4B protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "DKFZp761A179|HSM" netrin-G3 ligand LRIG4 leucine-rich repeats and immunoglobulin-like domains 4 "Receptor ligands|I-set domain containing|Ig-like cell adhesion molecule family" "542|593|1410" 2004-02-12 2004-06-16 2004-06-14 2014-11-19 94030 ENSG00000131409 OTTHUMG00000183063 uc002pss.4 BC032460 NM_001080457 CCDS42595 Q9NT99 11441184 MGI:3027390 RGD:1307121 ligandId:6607 HGNC:25042 "ENST00000652263.1|NM_001080457.2" +HGNC:29317 LRRC4C leucine rich repeat containing 4C protein-coding gene gene with protein product Approved 11p12 11p12 "KIAA1580|NGL-1" "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 2005-09-13 2019-08-20 57689 ENSG00000148948 OTTHUMG00000166383 uc031pzu.2 AB046800 NM_020929 CCDS31464 Q9HCJ2 14595443 MGI:2442636 RGD:1311013 608817 HGNC:29317 "ENST00000528697.6|NM_001258419.2" +HGNC:18531 LRRC7 leucine rich repeat containing 7 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KIAA1365|densin-180" PDZ domain containing 1220 2004-11-10 2014-11-19 57554 ENSG00000033122 OTTHUMG00000059194 uc001dep.4 NM_020794 CCDS81341 Q96NW7 12525888 MGI:2676665 RGD:708527 614453 HGNC:18531 "ENST00000651989.2|NM_001370785.2" +HGNC:40843 LRRC7-AS1 LRRC7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Antisense RNAs 1987 2019-08-16 2019-08-16 105378792 ENSG00000237919 OTTHUMG00000009266 XR_001738107 HGNC:40843 +HGNC:19027 LRRC8A leucine rich repeat containing 8 VRAC subunit A protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KIAA1437|FLJ10337|SWELL1" LRRC8 "leucine rich repeat containing 8|leucine rich repeat containing 8 family member A" Volume regulated anion channel subunits 1158 2003-09-26 2005-06-29 2017-08-01 2021-04-13 56262 ENSG00000136802 OTTHUMG00000020766 uc004bwl.5 AB037858 NM_019594 CCDS35155 Q8IWT6 "24725410|24790029" MGI:2652847 RGD:1311690 "LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia|http://structure.bmc.lu.se/idbase/LRRC8Abase/|LRG_80|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_80.xml" 608360 123129 HGNC:19027 "ENST00000372600.9|NM_019594.4" HGNC:19027 +HGNC:30692 LRRC8B leucine rich repeat containing 8 VRAC subunit B protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "TA-LRRP|KIAA0231" T cell activation leucine repeat rich protein leucine rich repeat containing 8 family member B Volume regulated anion channel subunits 1158 2005-06-29 2017-08-01 2018-05-08 23507 ENSG00000197147 OTTHUMG00000010129 uc057ieo.1 AF385436 NM_015350 CCDS724 Q6P9F7 "9039502|24790029" MGI:2141353 RGD:1563429 612888 HGNC:30692 "ENST00000330947.7|NM_001369817.2" +HGNC:25075 LRRC8C leucine rich repeat containing 8 VRAC subunit C protein-coding gene gene with protein product Approved 1p22.2 01p22.2 AD158 hypothetical protein AD158 leucine rich repeat containing 8 family member C Volume regulated anion channel subunits 1158 2005-06-29 2017-08-01 2018-05-08 84230 ENSG00000171488 OTTHUMG00000010305 uc001dnl.5 NM_032270 CCDS725 Q8TDW0 "11230166|24790029" MGI:2140839 RGD:1306585 612889 HGNC:25075 "ENST00000370454.9|NM_032270.5" +HGNC:53731 LRRC8C-DT LRRC8C divergent transcript non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 FLJ27354 Divergent transcripts 1990 2017-09-21 2017-09-21 400761 ENSG00000231999 OTTHUMG00000010130 NR_033981 28881755 HGNC:53731 +HGNC:16992 LRRC8D leucine rich repeat containing 8 VRAC subunit D protein-coding gene gene with protein product Approved 1p22.2 01p22.2 FLJ10470 LRRC5 "leucine rich repeat containing 5|leucine rich repeat containing 8 family member D" Volume regulated anion channel subunits 1158 2001-10-30 2005-06-29 2017-08-01 2018-05-08 55144 ENSG00000171492 OTTHUMG00000010583 uc001dnm.4 AK001332 NM_018103 CCDS726 Q7L1W4 24790029 MGI:1922368 RGD:1309601 612890 HGNC:16992 "ENST00000337338.9|NM_001134479.2" +HGNC:55186 LRRC8D-DT LRRC8D divergent transcript non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 Divergent transcripts 1990 2020-08-12 2020-08-12 118568809 ENSG00000272931 +HGNC:26272 LRRC8E leucine rich repeat containing 8 VRAC subunit E protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ23420 leucine rich repeat containing 8 family member E Volume regulated anion channel subunits 1158 2005-06-29 2017-08-01 2022-01-10 80131 ENSG00000171017 OTTHUMG00000182455 uc031rje.2 NM_025061 CCDS12189 Q6NSJ5 24790029 MGI:1919517 RGD:1311979 612891 HGNC:26272 "ENST00000306708.11|NM_025061.6" +HGNC:19848 LRRC9 leucine rich repeat containing 9 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 FLJ46156 leucine-rich repeat-containing 9 2002-11-27 2003-11-19 2022-02-03 341883 ENSG00000131951 OTTHUMG00000028948 uc059cce.1 AK128037 NM_001355272 CCDS86397 Q6ZRR7 33854844 MGI:1925507 RGD:1565716 HGNC:19848 +HGNC:20264 LRRC10 leucine rich repeat containing 10 protein-coding gene gene with protein product Approved 12q15 12q15 "HRLRRP|LRRC10A" heart-restricted leucine-rich repeat protein 2004-06-22 2018-11-21 376132 ENSG00000198812 OTTHUMG00000169384 uc001svc.4 AK095935 NM_201550 CCDS31856 Q5BKY1 "14751244|26608339" MGI:2448063 RGD:1307358 610846 HGNC:20264 "ENST00000361484.5|NM_201550.4" HGNC:20264 +HGNC:37215 LRRC10B leucine rich repeat containing 10B protein-coding gene gene with protein product Approved 11q12.2 11q12.2 2009-09-08 2009-09-08 390205 ENSG00000204950 OTTHUMG00000168178 uc010rlk.2 NM_001145077 CCDS44621 A6NIK2 MGI:2685551 RGD:1564983 HGNC:37215 "ENST00000378075.4|NM_001145077.2" +HGNC:20419 LRRC14 leucine rich repeat containing 14 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KIAA0014|LRRC14A" 2004-01-15 2012-08-20 9684 ENSG00000160959 OTTHUMG00000165179 uc003zdk.4 BC011377 NM_014665 CCDS6432 Q15048 7584026 MGI:2445060 RGD:1560202 619368 HGNC:20419 "ENST00000292524.6|NM_014665.4" +HGNC:37268 LRRC14B leucine rich repeat containing 14B protein-coding gene gene with protein product Approved 5p15.33 05p15.33 2009-09-10 2010-02-17 389257 ENSG00000185028 OTTHUMG00000161578 uc003jal.1 NM_001080478 CCDS47184 A6NHZ5 MGI:2145269 RGD:1564978 HGNC:37268 "ENST00000328278.4|NM_001080478.3" +HGNC:20818 LRRC15 leucine rich repeat containing 15 protein-coding gene gene with protein product Approved 3q29 03q29 LIB 2003-04-25 2015-08-27 131578 ENSG00000172061 OTTHUMG00000156048 uc003ftu.3 AB071037 NM_001135057 "CCDS46984|CCDS3306" Q8TF66 12923058 MGI:1921738 RGD:70551 619327 HGNC:20818 "ENST00000347624.4|NM_130830.5" +HGNC:16895 LRRC17 leucine rich repeat containing 17 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "P37NB|H_RG318M05.3" 2003-08-07 2014-11-18 10234 ENSG00000128606 OTTHUMG00000157210 uc003vau.4 U32907 NM_005824 "CCDS5727|CCDS34721" Q8N6Y2 "8982252|19336404" MGI:1921761 RGD:1560165 618749 HGNC:16895 "ENST00000339431.9|NM_001031692.3" +HGNC:23199 LRRC18 leucine rich repeat containing 18 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "UNQ933|MGC34773|UNQ9338|VKGE9338" 2004-05-27 2014-11-19 474354 ENSG00000165383 OTTHUMG00000018182 uc057tdu.1 AY358137 NM_001006939 CCDS31197 Q8N456 MGI:1914830 RGD:1311738 619002 HGNC:23199 +HGNC:23379 LRRC19 leucine rich repeat containing 19 protein-coding gene gene with protein product Approved 9p21.2 09p21.2 FLJ21302 2003-11-14 2016-10-05 64922 ENSG00000184434 OTTHUMG00000019710 uc003zqh.4 AK024955 NM_022901 CCDS6518 Q9H756 MGI:2140219 RGD:1591722 619068 HGNC:23379 "ENST00000380055.6|NM_022901.3" +HGNC:23421 LRRC20 leucine rich repeat containing 20 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "FLJ10751|FLJ10844" 2004-04-15 2016-10-05 55222 ENSG00000172731 OTTHUMG00000018407 uc031pvr.2 BC024001 NM_018239 "CCDS73145|CCDS7302|CCDS7300|CCDS7301" Q8TCA0 MGI:2387182 RGD:1566140 HGNC:23421 "ENST00000446961.4|NM_001278212.2" +HGNC:19138 LRRC23 leucine rich repeat containing 23 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "B7|LRPB7" 2006-01-24 2016-10-05 10233 ENSG00000010626 OTTHUMG00000156668 uc001qrp.4 BC014450 NM_006992 "CCDS8569|CCDS8568" Q53EV4 "11830501|11826754" MGI:1315192 RGD:1304779 HGNC:19138 "ENST00000443597.7|NM_001135217.2" +HGNC:28947 LRRC24 leucine rich repeat containing 24 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 LRRC14OS I-set domain containing 593 2005-10-05 2015-08-25 441381 ENSG00000254402 OTTHUMG00000165180 uc003zdm.4 AB178281 NM_001024678 CCDS34969 Q50LG9 7584026 MGI:3605040 RGD:1308720 HGNC:28947 "ENST00000529415.7|NM_001024678.4" +HGNC:29806 LRRC25 leucine rich repeat containing 25 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MAPA|FLJ38116" 2004-02-18 2014-11-19 126364 ENSG00000175489 OTTHUMG00000183361 uc002niw.4 AK095435 NM_145256 CCDS12377 Q8N386 12384430 MGI:2445284 RGD:1564818 607518 HGNC:29806 "ENST00000339007.4|NM_145256.3" +HGNC:31409 LRRC26 leucine rich repeat containing 26 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "bA350O14.10|OTTHUMG00000020980" MicroRNA protein coding host genes 1691 2004-06-02 2015-08-25 389816 ENSG00000184709 OTTHUMG00000020980 uc004clp.4 DQ355157 NM_001013653 CCDS35184 Q2I0M4 22547800 MGI:2385129 RGD:1308398 613505 HGNC:31409 "ENST00000371542.3|NM_001013653.3" +HGNC:29346 LRRC27 leucine rich repeat containing 27 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 KIAA1674 2004-04-23 2018-11-16 80313 ENSG00000148814 OTTHUMG00000019284 uc010quw.2 AB051461 NM_030626 "CCDS44496|CCDS44495|CCDS31316" Q9C0I9 11214970 MGI:1923862 RGD:1559981 HGNC:29346 "ENST00000368614.8|NM_030626.3" +HGNC:28355 LRRC28 leucine rich repeat containing 28 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "MGC24976|FLJ34269|FLJ45242" 2004-06-29 2014-11-18 123355 ENSG00000168904 OTTHUMG00000149854 uc002bva.3 AK091588 NM_144598 "CCDS66873|CCDS10380" Q86X40 12975309 MGI:1915689 RGD:1307209 HGNC:28355 "ENST00000301981.8|NM_144598.5" +HGNC:13605 LRRC29 leucine rich repeat containing 29 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FBL9 FBXL9 F-box and leucine-rich repeat protein 9 2000-09-27 2004-08-26 2004-08-23 2014-11-19 26231 ENSG00000125122 OTTHUMG00000154403 uc002esg.4 AF176701 NM_012163 CCDS32465 Q8WV35 10531037 MGI:2443262 RGD:1593150 HGNC:13605 +HGNC:30219 LRRC30 leucine rich repeat containing 30 protein-coding gene gene with protein product Approved 18p11.23 18p11.23 2005-01-06 2020-04-01 339291 ENSG00000206422 OTTHUMG00000178479 uc010wzk.3 NM_001105581 CCDS42409 A6NM36 MGI:2685172 RGD:1563832 HGNC:30219 "ENST00000383467.3|NM_001105581.3" +HGNC:26261 LRRC31 leucine rich repeat containing 31 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 FLJ23259 2005-01-24 2015-08-25 79782 ENSG00000114248 OTTHUMG00000164421 uc003fgc.3 AK026912 NM_024727 "CCDS63833|CCDS63832|CCDS43167" Q6UY01 12975309 MGI:2443864 RGD:1561499 HGNC:26261 "ENST00000316428.10|NM_024727.4" +HGNC:4161 LRRC32 leucine rich repeat containing 32 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "D11S833E|GARP" glycoprotein A repetitions predominant 1994-12-15 2005-02-25 2005-02-25 2016-10-05 2615 ENSG00000137507 OTTHUMG00000133687 uc001oxr.4 Z24680 NM_005512 CCDS8245 Q14392 "8180135|1543912" MGI:93882 RGD:1309087 137207 objectId:2913 HGNC:4161 "ENST00000260061.9|NM_001128922.2" +HGNC:28408 LRRC34 leucine rich repeat containing 34 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 MGC27085 2005-02-25 2021-04-30 151827 ENSG00000171757 OTTHUMG00000164419 uc003ffx.4 AK095125 NM_153353 "CCDS54672|CCDS87166|CCDS3208" Q8IZ02 "24991885|32299535" MGI:1919077 RGD:1565052 619037 HGNC:28408 "ENST00000446859.7|NM_001172779.2" +HGNC:49887 LRRC34P1 leucine rich repeat containing 34 pseudogene 1 pseudogene pseudogene Approved 12p12.1 12p12.1 2014-03-18 2014-03-18 100288378 ENSG00000256371 OTTHUMG00000169102 NG_021708 PGOHUM00000239705 HGNC:49887 +HGNC:49888 LRRC34P2 leucine rich repeat containing 34 pseudogene 2 pseudogene pseudogene Approved 4q12 04q12 2014-03-18 2014-03-18 100420613 ENSG00000250464 OTTHUMG00000160652 NG_025106 PGOHUM00000245536 HGNC:49888 +HGNC:25615 LRRC36 leucine rich repeat containing 36 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ11004 2005-04-05 2020-04-01 55282 ENSG00000159708 OTTHUMG00000173030 uc002esv.4 BC026156 NM_018296 "CCDS32467|CCDS58474" Q1X8D7 12477932 MGI:2448585 RGD:1303118 HGNC:25615 "ENST00000329956.11|NM_018296.6" +HGNC:29069 LRRC37A leucine rich repeat containing 37A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 KIAA0563 2005-04-15 2015-09-03 9884 ENSG00000176681 OTTHUMG00000149841 uc002ikg.3 BC040501 NM_014834 CCDS11504 A6NMS7 "9628581|15533724" "MGI:2685097|MGI:2685730" 616555 HGNC:29069 +HGNC:32404 LRRC37A2 leucine rich repeat containing 37 member A2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ45049 c114 SLIT-like testicular protein 2006-10-23 2016-06-03 2016-06-03 474170 ENSG00000238083 OTTHUMG00000178032 uc002ikn.2 AY386262 NM_001006607 CCDS42353 A6NM11 "MGI:2685097|MGI:2685730" 616556 HGNC:32404 +HGNC:32427 LRRC37A3 leucine rich repeat containing 37 member A3 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 "FLJ34306|KIAA0563" 2006-10-23 2016-06-03 2016-06-03 374819 ENSG00000176809 OTTHUMG00000132307 uc002jey.3 AB011135 NM_199340 "CCDS32708|CCDS77091" O60309 "MGI:2685097|MGI:2685730" RGD:1559753 616557 HGNC:32427 "ENST00000584306.6|NM_199340.5" +HGNC:25479 LRRC37A4P leucine rich repeat containing 37 member A4, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 FLJ10120 LRRC37A4 2007-08-02 2012-03-07 2016-06-03 2016-06-03 55073 ENSG00000214425 OTTHUMG00000179212 AK000982 NR_002940 PGOHUM00000262955 HGNC:25479 +HGNC:23369 LRRC37A5P leucine rich repeat containing 37 member A5, pseudogene pseudogene pseudogene Approved 9q31.3 09q31.3 C9orf29 chromosome 9 open reading frame 29 2005-12-09 2012-03-07 2016-06-03 2016-06-03 652972 ENSG00000204173 OTTHUMG00000020494 BC031236 NR_034087 Q49AS3 PGOHUM00000263227 HGNC:23369 +HGNC:33746 LRRC37A6P leucine rich repeat containing 37 member A6, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 LRRC37E 2012-03-07 2016-06-03 2016-06-03 387646 ENSG00000230445 OTTHUMG00000017852 NR_003525 23064749 PGOHUM00000238378 HGNC:33746 +HGNC:43792 LRRC37A7P leucine rich repeat containing 37 member A7, pseudogene pseudogene pseudogene Approved 18q12.1 18q12.1 2012-03-07 2016-06-03 2016-06-03 100421589 ENSG00000265158 OTTHUMG00000179653 NG_026286 PGOHUM00000234912 HGNC:43792 +HGNC:43793 LRRC37A8P leucine rich repeat containing 37 member A8, pseudogene pseudogene pseudogene Approved 17q12 17q12 2012-03-13 2016-06-03 2016-06-03 100533789 NG_028731 PGOHUM00000237040 HGNC:43793 +HGNC:43813 LRRC37A9P leucine rich repeat containing 37 member A9, pseudogene pseudogene pseudogene Approved 17q12 17q12 2012-03-13 2016-06-03 2016-06-03 100533790 ENSG00000271013 OTTHUMG00000188398 NG_028732 PGOHUM00000237042 HGNC:43813 +HGNC:43814 LRRC37A10P leucine rich repeat containing 37 member A10, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2012-03-13 2016-06-03 2016-06-03 100533791 NG_028733 PGOHUM00000237080 HGNC:43814 +HGNC:43815 LRRC37A11P leucine rich repeat containing 37 member A11, pseudogene pseudogene pseudogene Approved 17q12 17q12 LRRC37F 2012-03-13 2016-06-03 2016-06-03 342666 ENSG00000214553 OTTHUMG00000133184 NR_033753 23064749 PGOHUM00000237383 HGNC:43815 +HGNC:43816 LRRC37A12P leucine rich repeat containing 37 member A12, pseudogene pseudogene pseudogene Approved 1p35.1 01p35.1 2012-03-13 2016-06-03 2016-06-03 101929254 ENSG00000229259 OTTHUMG00000038009 NG_042886 PGOHUM00000243962 HGNC:43816 +HGNC:43817 LRRC37A13P leucine rich repeat containing 37 member A13, pseudogene pseudogene pseudogene Approved 11q23.2 11q23.2 2012-03-13 2016-06-03 2016-06-03 106479024 ENSG00000257101 OTTHUMG00000168196 NG_044288 PGOHUM00000242899 HGNC:43817 +HGNC:43818 LRRC37A14P leucine rich repeat containing 37 member A14, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 2012-03-13 2016-06-03 2016-06-03 106479025 ENSG00000215771 OTTHUMG00000150935 NG_044297 PGOHUM00000246339 HGNC:43818 +HGNC:43819 LRRC37A15P leucine rich repeat containing 37 member A15, pseudogene pseudogene pseudogene Approved 4q24 04q24 2012-03-13 2016-06-03 2016-06-03 106481796 ENSG00000230069 OTTHUMG00000161081 NG_045650 PGOHUM00000250726 HGNC:43819 +HGNC:43820 LRRC37A16P leucine rich repeat containing 37 member A16, pseudogene pseudogene pseudogene Approved 17q24.2 17q24.2 LRRC37C 2012-03-13 2016-06-03 2016-11-09 651250 ENSG00000267023 OTTHUMG00000180160 NG_023507 23064749 PGOHUM00000237165 HGNC:43820 +HGNC:48365 LRRC37A17P leucine rich repeat containing 37 member A17, pseudogene pseudogene pseudogene Approved 17q21.32 17q21.32 LRRC37A5 "leucine rich repeat containing 37, member A17, pseudogene|leucine-rich repeat containing 37 member A17, pseudogene" 2013-05-14 2016-06-03 2016-06-03 644397 ENSG00000263142 OTTHUMG00000178082 NG_028735 23064749 PGOHUM00000237421 HGNC:48365 +HGNC:29070 LRRC37B leucine rich repeat containing 37B protein-coding gene gene with protein product Approved 17q11.2 17q11.2 KIAA0563-related 2005-04-15 2005-08-09 2015-09-03 114659 ENSG00000185158 OTTHUMG00000132785 uc060dsu.1 AJ314647 NM_052888 "CCDS82102|CCDS32609" Q96QE4 "11468690|10843809" 616558 HGNC:29070 +HGNC:25390 LRRC37BP1 leucine rich repeat containing 37B pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 DKFZp667M2411 LRRC37B2 leucine rich repeat containing 37, member B2 2007-08-16 2010-08-16 2010-08-16 2014-11-19 147172 ENSG00000250462 OTTHUMG00000132795 BC118647 NR_015341 HGNC:25390 +HGNC:27005 LRRC38 leucine rich repeat containing 38 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 2005-05-19 2015-04-07 126755 ENSG00000162494 OTTHUMG00000007918 uc001avb.4 BC016048 NM_001010847 CCDS53269 Q5VT99 22547800 MGI:2442845 RGD:1311416 615212 HGNC:27005 "ENST00000376085.4|NM_001010847.2" +HGNC:28228 LRRC39 leucine rich repeat containing 39 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "MGC14816|myomasp" Myosin-interacting, M-band-associated stress-responsive protein 2005-05-23 2018-06-11 127495 ENSG00000122477 OTTHUMG00000010839 uc057iqj.1 AK096892 NM_144620 "CCDS766|CCDS58014" Q96DD0 "12975309|20847312" MGI:1924557 RGD:1585106 HGNC:28228 "ENST00000370137.6|NM_144620.4" +HGNC:26004 LRRC40 leucine rich repeat containing 40 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FLJ20331 2005-05-23 2015-08-27 55631 ENSG00000066557 OTTHUMG00000009348 uc001der.3 NM_017768 CCDS646 Q9H9A6 12477932 MGI:1914394 RGD:1562017 HGNC:26004 "ENST00000370952.4|NM_017768.5" +HGNC:16917 LRRC41 leucine rich repeat containing 41 protein-coding gene gene with protein product Approved 1p34.1-p33 01p34.1-p33 MUF1 2005-05-24 2018-02-13 10489 ENSG00000132128 OTTHUMG00000007810 uc001cpn.4 AK024051 NM_006369 CCDS533 Q15345 11384984 MGI:2441984 RGD:1311221 618753 HGNC:16917 "ENST00000617190.5|NM_006369.5" +HGNC:28792 LRRC42 leucine rich repeat containing 42 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 MGC8974 2005-05-24 2018-06-04 115353 ENSG00000116212 OTTHUMG00000008436 uc001cwk.3 AK075201 NM_052940 CCDS585 Q9Y546 24806090 MGI:1925059 RGD:1308919 HGNC:28792 "ENST00000371370.8|NM_001256409.2" +HGNC:28562 LRRC43 leucine rich repeat containing 43 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 MGC35140 2005-05-26 2015-08-27 254050 ENSG00000158113 OTTHUMG00000168915 uc009zxm.4 AK124107 NM_152759 CCDS45001 Q8N309 12477932 MGI:2685907 RGD:1561461 HGNC:28562 "ENST00000339777.5|NM_001098519.2" +HGNC:28302 LRRC45 leucine rich repeat containing 45 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 MGC20806 2005-05-26 2020-04-01 201255 ENSG00000169683 OTTHUMG00000178454 uc002kde.4 BC014109 NM_144999 CCDS11797 Q96CN5 24035387 MGI:2387183 RGD:1590053 HGNC:28302 "ENST00000306688.8|NM_144999.4" +HGNC:25047 LRRC46 leucine rich repeat containing 46 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 MGC16309 2005-05-26 2020-04-01 90506 ENSG00000141294 OTTHUMG00000178289 uc002ima.3 NM_033413 CCDS11518 Q96FV0 12477932 MGI:1916547 RGD:1303311 HGNC:25047 "ENST00000269025.9|NM_033413.4" +HGNC:29207 LRRC47 leucine rich repeat containing 47 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "KIAA1185|RP1-286D6.3" 2005-05-26 2014-11-19 57470 ENSG00000130764 OTTHUMG00000003506 uc001akx.2 AB033011 NM_020710 CCDS51 Q8N1G4 10574461 MGI:1920196 RGD:1308599 619154 HGNC:29207 "ENST00000378251.3|NM_020710.3" +HGNC:25965 LRRC49 leucine rich repeat containing 49 protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ20156|CSTPP2|PGs4" "centriolar satellite-associated tubulin polyglutamylation protein 2|polyglutamylase subunit 4" Tubulin polyglutamylase complex subunits 2117 2005-05-26 2022-01-06 54839 ENSG00000137821 OTTHUMG00000172182 uc002asw.5 NM_017691 "CCDS58376|CCDS86472|CCDS55971|CCDS32282|CCDS61694" Q8IUZ0 "15890843|34782749" MGI:2442689 RGD:1309466 HGNC:25965 "ENST00000260382.10|NM_017691.5" +HGNC:55526 LRRC51 leucine rich repeat containing 51 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 2021-03-19 2021-03-19 120356739 ENSG00000184154 NM_001145307 "CCDS59227|CCDS55778|CCDS44667|CCDS8208" Q96E66 MGI:1916608 "ENST00000289488.8|NM_145309.6" +HGNC:32156 LRRC52 leucine rich repeat containing 52 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 FLJ25811 2005-07-25 2016-10-05 440699 ENSG00000162763 OTTHUMG00000034625 uc001gde.3 AK098677 NM_001005214 CCDS30930 Q8N7C0 22547800 MGI:1924118 RGD:1312014 615218 HGNC:32156 "ENST00000294818.2|NM_001005214.4" +HGNC:54044 LRRC52-AS1 LRRC52 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.3-q24.1 01q23.3-q24.1 Antisense RNAs 1987 2018-09-26 2018-09-26 400794 ENSG00000237463 NR_026744 HGNC:54044 +HGNC:25255 LRRC53 leucine rich repeat containing 53 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 2007-12-14 2020-04-20 105378803 ENSG00000162621 OTTHUMG00000009621 uc057hqj.1 NM_001364666 A6NM62 RGD:7683241 HGNC:25255 "ENST00000294635.5|NM_001382280.1" +HGNC:32324 LRRC55 leucine rich repeat containing 55 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 FLJ45686 2005-10-10 2015-08-25 219527 ENSG00000183908 OTTHUMG00000159309 uc001njl.3 NM_001005210 CCDS31539 Q6ZSA7 22547800 MGI:2685197 RGD:1561726 615213 HGNC:32324 "ENST00000497933.3|NM_001005210.4" +HGNC:25430 LRRC56 leucine rich repeat containing 56 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FLJ00101|DKFZp761L1518|DNAAF12" dynein axonemal assembly factor 12 Axonemal dynein assembly factors 1627 2005-10-18 2022-01-28 115399 ENSG00000161328 OTTHUMG00000132003 uc010qvz.3 NM_198075 CCDS7700 Q8IYG6 12477932 MGI:1917802 RGD:1311654 618227 HGNC:25430 "ENST00000270115.8|NM_198075.4" HGNC:25430 +HGNC:26719 LRRC57 leucine rich repeat containing 57 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 FLJ36812 2005-10-25 2016-10-05 255252 ENSG00000180979 OTTHUMG00000130679 uc001zqd.3 AK094891 NM_153260 CCDS10089 Q8N9N7 MGI:1913856 RGD:1307128 HGNC:26719 "ENST00000397130.8|NM_153260.3" +HGNC:54680 LRRC57P1 LRRC57 pseudogene 1 pseudogene pseudogene Approved 2q22.1 02q22.1 2019-11-27 2019-11-27 100420575 ENSG00000238065 NG_023735 +HGNC:26968 LRRC58 leucine rich repeat containing 58 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 2006-01-06 2018-11-16 116064 ENSG00000163428 OTTHUMG00000159407 uc003edr.3 BC013757 NM_001099678 CCDS46892 Q96CX6 MGI:2443542 RGD:1307440 HGNC:26968 "ENST00000295628.4|NM_001099678.2" +HGNC:52935 LRRC58-DT LRRC58 divergent transcript non-coding RNA RNA, long non-coding Approved 3q13.33 03q13.33 Divergent transcripts 1990 2021-06-25 2021-06-25 100130701 ENSG00000240661 OTTHUMG00000159404 XR_007096031 +HGNC:28817 LRRC59 leucine rich repeat containing 59 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "PRO1855|FLJ21675" 2006-01-12 2006-01-12 2014-11-19 55379 ENSG00000108829 OTTHUMG00000162079 uc002iqt.4 AK025328 NM_018509 CCDS11566 Q96AG4 12477932 MGI:2138133 RGD:1305092 614854 HGNC:28817 "ENST00000225972.8|NM_018509.4" +HGNC:21704 LRRC61 leucine rich repeat containing 61 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "MGC3036|FLJ31392|HSPC295" 2006-02-06 2015-08-25 65999 ENSG00000127399 OTTHUMG00000158326 uc003wgx.4 BC001354 NM_023942 CCDS5901 Q9BV99 MGI:2652848 RGD:1561800 HGNC:21704 "ENST00000359623.9|NM_001142928.2" +HGNC:34296 LRRC63 leucine rich repeat containing 63 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 RP11-139H14.4 2008-06-11 2018-11-16 220416 ENSG00000173988 OTTHUMG00000016866 uc001vbc.4 NM_001282460 CCDS61325 Q05C16 MGI:1918109 RGD:1559507 HGNC:34296 +HGNC:34299 LRRC66 leucine rich repeat containing 66 protein-coding gene gene with protein product Approved 4q12 04q12 2008-06-11 2014-11-19 339977 ENSG00000188993 OTTHUMG00000160623 uc003gzi.4 BC040414 NM_001024611 CCDS43229 Q68CR7 MGI:2387634 RGD:1306094 HGNC:34299 "ENST00000682860.1|NM_001024611.3" +HGNC:34303 LRRC69 leucine rich repeat containing 69 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 MicroRNA protein coding host genes 1691 2008-06-11 2014-11-19 100130742 ENSG00000214954 OTTHUMG00000164023 uc010mal.2 AK130865 NM_001129890 CCDS87619 Q6ZNQ3 MGI:1920564 RGD:1583733 HGNC:34303 +HGNC:35155 LRRC70 leucine rich repeat containing 70 protein-coding gene gene with protein product Approved 5q12.1 05q12.1 "SLRN|LOC100130733" synleurin 2008-12-18 2015-09-03 100130733 ENSG00000186105 OTTHUMG00000154401 uc011cqs.1 XR_042302 CCDS47218 Q7Z2Q7 HGNC:35155 "ENST00000334994.6|NM_181506.5" +HGNC:26556 LRRC71 leucine rich repeat containing 71 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 FLJ32884 C1orf92 chromosome 1 open reading frame 92 2005-05-27 2011-02-14 2011-02-14 2014-11-19 149499 ENSG00000160838 OTTHUMG00000041298 uc001fqm.3 BC033790 NM_144702 CCDS44249 Q8N4P6 14702039 MGI:1921735 RGD:1309453 HGNC:26556 "ENST00000337428.8|NM_144702.3" +HGNC:42972 LRRC72 leucine rich repeat containing 72 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "CFAP279|FAP279" Cilia and flagella associated 1491 2011-10-07 2020-01-28 100506049 ENSG00000205858 OTTHUMG00000152446 uc022aaf.2 NM_001195280 CCDS56464 A6NJI9 MGI:1920830 RGD:1560395 HGNC:42972 "ENST00000401542.3|NM_001195280.2" +HGNC:21375 LRRC73 leucine rich repeat containing 73 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 dJ337H4.2 C6orf154 chromosome 6 open reading frame 154 2003-11-03 2011-11-25 2011-11-25 2015-08-25 221424 ENSG00000204052 OTTHUMG00000014737 uc003ovk.3 NM_001012974 CCDS34456 Q5JTD7 MGI:2684934 RGD:1561390 HGNC:21375 +HGNC:23346 LRRC74A leucine rich repeat containing 74A protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "C14orf166B|LRRC74" "chromosome 14 open reading frame 166B|LRRC74|leucine rich repeat containing 74" 2004-06-25 2014-07-30 2014-07-30 2014-07-30 145497 ENSG00000100565 OTTHUMG00000150153 AK058106 NM_194287 CCDS9853 Q0VAA2 MGI:3646959 RGD:1564488 HGNC:23346 "ENST00000689127.1|NM_001385106.1" +HGNC:34301 LRRC74B leucine rich repeat containing 74B protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2014-07-30 2014-11-19 400891 ENSG00000187905 OTTHUMG00000150897 BC028231 NM_001291006 CCDS77654 Q6ZQY2 MGI:1921935 RGD:2319134 HGNC:34301 +HGNC:32403 LRRC75A leucine rich repeat containing 75A protein-coding gene gene with protein product Approved 17p11.2 17p11.2 FLJ35696 "C17orf76|FAM211A" "chromosome 17 open reading frame 76|family with sequence similarity 211, member A" 2006-01-13 2014-03-11 2014-03-11 2014-11-19 388341 ENSG00000181350 OTTHUMG00000058988 AK093015 NM_207387 "CCDS11178|CCDS45620" Q8NAA5 14702039 MGI:2682293 RGD:1595947 HGNC:32403 "ENST00000470794.2|NM_001113567.3" +HGNC:33155 LRRC75B leucine rich repeat containing 75B protein-coding gene gene with protein product Approved 22q11.23 22q11.23 MGC131773 "C22orf36|FAM211B" "chromosome 22 open reading frame 36|family with sequence similarity 211, member B" 2006-10-16 2014-03-11 2014-03-11 2014-11-19 388886 ENSG00000178026 OTTHUMG00000150729 AK097054 NM_207644 CCDS42991 Q2VPJ9 MGI:2143657 RGD:2318441 HGNC:33155 "ENST00000318753.13|NM_207644.3" +HGNC:50536 LRRC77P leucine rich repeat containing 77, pseudogene pseudogene pseudogene Approved 3q26.1-q26.2 03q26.1-q26.2 LINC01330 long intergenic non-protein coding RNA 1330 2014-05-14 2017-01-19 2017-01-19 2018-02-13 646168 ENSG00000244227 OTTHUMG00000158503 "AK093355|BC043538" NR_033843 MGI:5579839 HGNC:50536 +HGNC:29373 LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 protein-coding gene gene with protein product Approved 8q21.2 08q21.2 "KIAA1764|CLERC|VFL1" "centrosomal leucine-rich repeat and coiled-coil containing protein|variable number of flagella 1 homolog (Chlamydomonas)" leucine rich repeat and coiled-coil domain containing 1 2005-08-18 2012-04-10 2015-08-25 85444 ENSG00000133739 OTTHUMG00000164784 uc003ycw.4 BC030701 NM_033402 CCDS43750 Q9C099 "11214970|18728398" MGI:1918960 RGD:628722 617791 HGNC:29373 "ENST00000360375.8|NM_033402.5" +HGNC:34300 LRRD1 leucine rich repeats and death domain containing 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 IMAGE:4798971 2011-05-23 2016-06-06 2016-06-06 401387 ENSG00000240720 OTTHUMG00000155861 uc064fgw.1 BC026112 NM_001045475 CCDS55124 A4D1F6 MGI:3045299 RGD:1562785 HGNC:34300 "ENST00000458448.6|NM_001161528.2" +HGNC:6702 LRRFIP1 LRR binding FLII interacting protein 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLAP-1|FLIIAP1|TRIP|GCF-2|HUFI-1|GCF2" GC-binding factor 2 leucine rich repeat (in FLII) interacting protein 1 1999-02-15 2016-06-20 2020-09-08 9208 ENSG00000124831 OTTHUMG00000133339 uc002vxd.4 AJ223075 NM_004735 "CCDS2521|CCDS46551|CCDS46552|CCDS46553" Q32MZ4 "9705290|9525888|16199883" MGI:1342770 RGD:1359548 603256 HGNC:6702 "ENST00000308482.14|NM_001137550.2" HGNC:6702 +HGNC:32937 LRRFIP1P1 LRR binding FLII interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 3q26.32 03q26.32 leucine rich repeat (in FLII) interacting protein 1 pseudogene 1 2010-09-30 2016-06-27 2016-06-27 101290506 ENSG00000240429 OTTHUMG00000157336 NG_033175 PGOHUM00000237876 HGNC:32937 +HGNC:6703 LRRFIP2 LRR binding FLII interacting protein 2 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 HUFI-2 leucine rich repeat (in FLII) interacting protein 2 1999-02-15 2016-06-20 2016-10-05 9209 ENSG00000093167 OTTHUMG00000130796 uc003cgt.4 AF115509 NM_006309 "CCDS46791|CCDS63592|CCDS2665|CCDS2664" Q9Y608 10366446 MGI:1918518 RGD:1306234 614043 HGNC:6703 "ENST00000336686.9|NM_006309.4" +HGNC:54992 LRRFIP2P1 LRRFIP2 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 2020-05-15 2020-05-15 100128738 ENSG00000237014 NG_022611 +HGNC:25708 LRRIQ1 leucine rich repeats and IQ motif containing 1 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "FLJ12303|KIAA1801" 2004-09-01 2016-06-03 2016-10-05 84125 ENSG00000133640 OTTHUMG00000166185 uc001tac.4 AK022365 NM_032165 CCDS41816 Q96JM4 11347906 MGI:1922228 RGD:1564903 HGNC:25708 "ENST00000393217.7|NM_001079910.2" +HGNC:28318 LRRIQ3 leucine rich repeats and IQ motif containing 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 MGC22773 LRRC44 leucine rich repeat containing 44 2005-05-26 2008-06-12 2016-06-03 2016-06-03 127255 ENSG00000162620 OTTHUMG00000009508 uc001dfy.5 BX647210 NM_145258 CCDS41350 A6PVS8 12477932 MGI:1921685 RGD:1591943 617957 HGNC:28318 "ENST00000354431.9|NM_001105659.2" +HGNC:34298 LRRIQ4 leucine rich repeats and IQ motif containing 4 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 LRRC64 leucine rich repeat containing 64 2008-06-11 2008-06-12 2016-06-03 2016-06-03 344657 ENSG00000188306 OTTHUMG00000164420 uc003fgb.4 NM_001080460 CCDS46951 A6NIV6 MGI:1915557 RGD:2323202 HGNC:34298 "ENST00000340806.7|NM_001080460.3" +HGNC:18608 LRRK1 leucine rich repeat kinase 1 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "FLJ23119|KIAA1790|ROCO1|RIPK6" ROCO family 1421 2004-01-22 2016-06-06 2021-05-27 79705 ENSG00000154237 OTTHUMG00000165514 uc002bwr.4 AB058693 NM_024652 CCDS42086 Q38SD2 "11347906|14654223" MGI:2142227 RGD:1308000 610986 objectId:2058 HGNC:18608 "ENST00000388948.8|NM_024652.6" +HGNC:18618 LRRK2 leucine rich repeat kinase 2 protein-coding gene gene with protein product Approved 12q12 12q12 "ROCO2|DKFZp434H2111|FLJ45829|RIPK7" dardarin PARK8 Parkinson disease (autosomal dominant) 8 "ROCO family|Armadillo like helical domain containing" "1421|1492" 2004-10-22 2016-06-06 2021-05-26 120892 ENSG00000188906 OTTHUMG00000059742 uc001rmg.5 AK026776 NM_198578 CCDS31774 Q5S007 15541308 MGI:1913975 RGD:1561168 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LRRK2 609007 123301 objectId:2059 HGNC:18618 "ENST00000298910.12|NM_198578.4" HGNC:18618 +HGNC:40848 LRRK2-DT LRRK2 divergent transcript non-coding RNA RNA, long non-coding Approved 12q12 12q12 Divergent transcripts 1990 2019-08-16 2019-08-16 107984474 ENSG00000225342 OTTHUMG00000133699 HGNC:40848 +HGNC:20980 LRRN1 leucine rich repeat neuronal 1 protein-coding gene gene with protein product Approved 3p26.2 03p26.2 FIGLER3 fibronectin type III, immunoglobulin and leucine rich repeat domains 3 I-set domain containing 593 2003-04-25 2014-11-19 57633 ENSG00000175928 OTTHUMG00000154934 uc003bpt.4 AB040930 NM_020873 CCDS33685 Q6UXK5 10819331 MGI:106038 RGD:1564145 619623 HGNC:20980 "ENST00000319331.4|NM_020873.7" +HGNC:16914 LRRN2 leucine rich repeat neuronal 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "GAC1|LRANK1|FIGLER7" "leucine rich and ankyrin repeats 1|fibronectin type III, immunoglobulin and leucine rich repeat domain 7" LRRN5 leucine rich repeat neuronal 5 I-set domain containing 593 2004-02-05 2007-01-31 2007-01-31 2014-11-19 10446 ENSG00000170382 OTTHUMG00000035989 uc001hbf.3 AF030435 NM_006338 CCDS1448 O75325 9662332 MGI:106037 RGD:1305482 605492 HGNC:16914 "ENST00000367177.4|NM_201630.2" +HGNC:17200 LRRN3 leucine rich repeat neuronal 3 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "NLRR3|FLJ11129|FIGLER5" fibronectin type III, immunoglobulin and leucine rich repeat domains 5 "Fibronectin type III domain containing|I-set domain containing" "555|593" 2001-11-19 2014-11-19 54674 ENSG00000173114 OTTHUMG00000155039 uc003vft.5 AB060967 NM_018334 CCDS5754 Q9H3W5 11549284 MGI:106036 RGD:71066 619748 HGNC:17200 "ENST00000308478.10|NM_001099658.2" +HGNC:16208 LRRN4 leucine rich repeat neuronal 4 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "dJ1056H1.1|NLRR4" C20orf75 chromosome 20 open reading frame 75 Fibronectin type III domain containing 555 2001-07-17 2008-05-20 2008-05-20 2014-11-19 164312 ENSG00000125872 OTTHUMG00000031825 uc002wmo.4 AL118505 NM_152611 CCDS13097 Q8WUT4 15870286 MGI:2445154 RGD:1305256 619706 HGNC:16208 "ENST00000378858.5|NM_152611.5" +HGNC:33724 LRRN4CL LRRN4 C-terminal like protein-coding gene gene with protein product Approved 11q12.3 11q12.3 Fibronectin type III domain containing 555 2008-05-20 2021-05-26 221091 ENSG00000177363 OTTHUMG00000167581 uc001nun.3 AK291334 NM_203422 CCDS8030 Q8ND94 33758365 MGI:1916102 RGD:1597359 HGNC:33724 "ENST00000317449.5|NM_203422.4" +HGNC:19408 LRRTM1 leucine rich repeat transmembrane neuronal 1 protein-coding gene gene with protein product Approved 2p12 02p12 FLJ32082 2004-06-22 2014-11-18 347730 ENSG00000162951 OTTHUMG00000130021 uc061lcu.1 AY358310 NM_178839 CCDS1966 Q86UE6 12676565 MGI:2389173 RGD:1585921 610867 HGNC:19408 "ENST00000295057.4|NM_178839.5" +HGNC:19409 LRRTM2 leucine rich repeat transmembrane neuronal 2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 KIAA0416 2004-06-22 2016-10-25 26045 ENSG00000146006 OTTHUMG00000163535 uc011cyz.2 AB007876 NM_015564 CCDS47272 O43300 12676565 MGI:2389174 RGD:1593785 610868 HGNC:19409 "ENST00000274711.7|NM_015564.3" +HGNC:19410 LRRTM3 leucine rich repeat transmembrane neuronal 3 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 2004-02-04 2016-01-15 347731 ENSG00000198739 OTTHUMG00000018332 uc001jmz.2 BX640611 NM_178011 CCDS7270 Q86VH5 12676565 MGI:2389177 RGD:1304866 610869 HGNC:19410 "ENST00000361320.5|NM_178011.5" +HGNC:19411 LRRTM4 leucine rich repeat transmembrane neuronal 4 protein-coding gene gene with protein product Approved 2p12 02p12 FLJ12568 2004-06-22 2014-11-18 80059 ENSG00000176204 OTTHUMG00000152842 uc002snq.4 AK122612 NM_024993 "CCDS82475|CCDS74530|CCDS46347|CCDS46346" Q86VH4 12676565 MGI:2389180 RGD:1560707 610870 HGNC:19411 "ENST00000409884.6|NM_001134745.3" +HGNC:40889 LRRTM4-AS1 LRRTM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p12 02p12 Antisense RNAs 1987 2019-08-16 2019-08-16 101927907 ENSG00000234653 OTTHUMG00000152840 NR_110284 HGNC:40889 +HGNC:25135 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 protein-coding gene gene with protein product Approved 9q33.3-q34.11 09q33.3-q34.11 "FLJ31641|CMT2P|RIFLE|TAL" "E3 ubiquitin-protein ligase LRSAM1|TSG 101-associated ligase|RING finger leucine repeat rich" "Ring finger proteins|Sterile alpha motif domain containing" "58|760" 2003-12-19 2021-04-13 90678 ENSG00000148356 OTTHUMG00000020701 uc004brb.2 AK056203 NM_138361 "CCDS55347|CCDS6873" Q6UWE0 "12975309|23245317|23245322|25484098" MGI:2684789 RGD:1564403 LRG_373|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_373.xml 610933 303011 6.3.2.- HGNC:25135 "ENST00000300417.11|NM_001005373.4" HGNC:25135 +HGNC:25023 LRTM1 leucine rich repeats and transmembrane domains 1 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 HT017 2006-01-02 2016-06-06 2016-06-06 57408 ENSG00000144771 OTTHUMG00000158578 uc003dhl.4 AF225421 NM_020678 "CCDS77753|CCDS2876" Q9HBL6 12477932 MGI:2442106 RGD:2321691 HGNC:25023 "ENST00000273286.6|NM_020678.4" +HGNC:32443 LRTM2 leucine rich repeats and transmembrane domains 2 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 2006-01-05 2016-06-06 2016-10-24 654429 ENSG00000166159 OTTHUMG00000168088 uc001qju.2 AK095610 NM_001039029 CCDS31726 Q8N967 MGI:2141485 RGD:1587001 HGNC:32443 "ENST00000299194.6|NM_001039029.3" +HGNC:25033 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing other readthrough Approved 11q13.4 11q13.4 "COMT2|CFAP111|LRTOMT1|LRTOMT2" "LRRC51|DFNB63" "leucine rich repeat containing 51|deafness, autosomal recessive 63" Cilia and flagella associated 1491 2005-05-26 2008-11-27 2013-08-19 2021-05-26 220074 ENSG00000284922 OTTHUMG00000154887 uc010rqw.3 NM_145309 CCDS44668 "18794526|18953341" "MGI:1916608|MGI:3769724" RGD:1561509 612414 169402 HGNC:25033 HGNC:25033 +HGNC:21769 LRWD1 leucine rich repeats and WD repeat domain containing 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DKFZp434K1815|ORCA|CENP-33" "origin recognition complex associated|centromere protein 33" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2007-10-17 2016-06-06 2016-06-06 222229 ENSG00000161036 OTTHUMG00000157718 uc003uzn.4 AL133057 NM_152892 CCDS34715 Q9UFC0 "20932478|20850016|20180869" MGI:1918985 RGD:1359442 615167 HGNC:21769 "ENST00000292616.10|NM_152892.3" +HGNC:6705 LSAMP limbic system associated membrane protein protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "LAMP|IGLON3" IgLON family member 3 limbic system-associated membrane protein "I-set domain containing|IgLON cell adhesion molecules" "593|1052" 1998-06-16 2018-03-06 2018-03-06 4045 ENSG00000185565 OTTHUMG00000159308 uc003ebs.4 U41901 NM_002338 CCDS2982 Q13449 9615236 MGI:1261760 RGD:71102 603241 HGNC:6705 "ENST00000490035.7|NM_002338.5" +HGNC:40350 LSAMP-AS1 LSAMP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 LSAMP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2020-04-20 101926903 ENSG00000240922 OTTHUMG00000159307 uc032ryf.2 NR_109998 LSAMP-AS1 HGNC:40350 +HGNC:25652 LSG1 large 60S subunit nuclear export GTPase 1 protein-coding gene gene with protein product Approved 3q29 03q29 FLJ11301 large subunit GTPase 1 homolog (S. cerevisiae) 2005-12-22 2013-08-21 2014-11-18 55341 ENSG00000041802 OTTHUMG00000156021 uc003fui.3 NM_018385 CCDS33922 Q9H089 11230166 MGI:107236 RGD:1309089 610780 HGNC:25652 "ENST00000265245.10|NM_018385.3" +HGNC:37824 LSINCT5 long stress-induced non-coding transcript 5 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 Long non-coding RNAs with non-systematic symbols 1992 2013-01-31 2018-07-26 101234261 ENSG00000281560 OTTHUMG00000189568 uc063cau.1 GU228577 NR_145480 "21532345|20214974|23359273" 615764 lsinct5 HGNC:37824 +HGNC:20472 LSM1 LSM1 homolog, mRNA degradation associated protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "CASM|YJL124C" cancer-associated Sm protein "LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)|LSM1, U6 small nuclear RNA associated" LSm proteins 1505 2003-02-17 2015-07-02 2016-10-05 27257 ENSG00000175324 OTTHUMG00000164051 uc003xkw.4 AF000177 NM_014462 CCDS6103 O15116 "12515382|11953827" MGI:1914457 RGD:1304967 607281 HGNC:20472 "ENST00000311351.9|NM_014462.3" +HGNC:49776 LSM1P1 LSM1 homolog, mRNA degradation associated pseudogene 1 pseudogene pseudogene Approved 9p22.2 09p22.2 LSM1, U6 small nuclear RNA associated pseudogene 1 2014-02-14 2015-07-02 2015-07-02 100820732 ENSG00000233551 NG_030485 PGOHUM00000235974 HGNC:49776 +HGNC:49777 LSM1P2 LSM1 homolog, mRNA degradation associated pseudogene 2 pseudogene pseudogene Approved 5q34 05q34 LSM1, U6 small nuclear RNA associated pseudogene 2 2014-02-14 2015-07-02 2015-07-02 106480288 ENSG00000271679 OTTHUMG00000184369 NG_044166 PGOHUM00000235446 HGNC:49777 +HGNC:13940 LSM2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G7b|YBL026W" C6orf28 "chromosome 6 open reading frame 28|LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)" LSm proteins 1505 2002-04-05 2003-02-21 2015-07-02 2016-10-05 57819 ENSG00000204392 OTTHUMG00000031121 uc011irr.3 AF182288 NM_021177 CCDS4722 Q9Y333 "10523320|8428774|12515382" MGI:90676 RGD:1598536 607282 HGNC:13940 "ENST00000375661.6|NM_021177.5" +HGNC:17874 LSM3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "YLR438C|SMX4|USS2" LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2015-07-02 2015-08-25 27258 ENSG00000170860 OTTHUMG00000129838 uc003byo.2 AF182289 NM_014463 CCDS2619 P62310 "10369684|10523320|12515382" MGI:1914928 RGD:1305971 607283 HGNC:17874 "ENST00000306024.4|NM_014463.3" +HGNC:44346 LSM3P1 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 1 pseudogene pseudogene Approved 17q21.32 17q21.32 "LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 1|LSM3 pseudogene 1|LSM3 U6 small nuclear RNA and mRNA degradation associated pseudogene 1" 2012-08-15 2015-07-02 2015-07-02 100303748 NG_012904 PGOHUM00000237099 HGNC:44346 +HGNC:44347 LSM3P2 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 2 pseudogene pseudogene Approved 12q22 12q22 "LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 2|LSM3 pseudogene 2|LSM3 U6 small nuclear RNA and mRNA degradation associated pseudogene 2" 2012-08-15 2015-07-02 2015-07-02 100303745 ENSG00000257847 OTTHUMG00000170226 NG_012901 PGOHUM00000239897 HGNC:44347 +HGNC:44348 LSM3P3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 3 pseudogene pseudogene Approved 2p11.2 02p11.2 "LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 3|LSM3 pseudogene 3|LSM3 U6 small nuclear RNA and mRNA degradation associated pseudogene 3" 2012-08-15 2015-07-02 2015-07-02 647302 ENSG00000225787 OTTHUMG00000153212 NG_012903 PGOHUM00000240121 HGNC:44348 +HGNC:44349 LSM3P4 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 4 pseudogene pseudogene Approved 4q31.21 04q31.21 "LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 4|LSM3 pseudogene 4|LSM3 U6 small nuclear RNA and mRNA degradation associated pseudogene 4" 2012-08-15 2015-07-02 2015-07-02 100130178 ENSG00000250835 OTTHUMG00000161338 NG_012902 PGOHUM00000246090 HGNC:44349 +HGNC:44350 LSM3P5 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 5 pseudogene pseudogene Approved 16q23.1 16q23.1 "LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 5|LSM3 pseudogene 5|LSM3 U6 small nuclear RNA and mRNA degradation associated pseudogene 5" 2012-08-15 2015-07-02 2015-07-02 100303743 ENSG00000260014 OTTHUMG00000176922 NG_011698 PGOHUM00000249176 HGNC:44350 +HGNC:17259 LSM4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated protein-coding gene gene with protein product Approved 19p13.11 19p13.11 YER112W LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2015-07-02 2020-04-01 25804 ENSG00000130520 OTTHUMG00000183357 uc002niq.4 AF117235 NM_001252129 "CCDS62601|CCDS12374" Q9Y4Z0 "10369684|10523320|12515382" MGI:1354692 RGD:1306808 607284 HGNC:17259 "ENST00000593829.6|NM_012321.5" +HGNC:17162 LSM5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated protein-coding gene gene with protein product Approved 7p14.3 07p14.3 YER146W LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2015-07-02 2015-08-25 23658 ENSG00000106355 OTTHUMG00000022913 uc003tct.3 AF182291 NM_001130710 "CCDS5438|CCDS47571" Q9Y4Y9 "10369684|10523320|12515382" MGI:1913623 RGD:1308655 607285 HGNC:17162 "ENST00000450169.7|NM_012322.3" +HGNC:17017 LSM6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated protein-coding gene gene with protein product Approved 4q31.22 04q31.22 YDR378C LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2015-07-02 2016-10-05 11157 ENSG00000164167 OTTHUMG00000161440 uc003ikq.5 AF182292 NM_007080 CCDS3767 P62312 "10369684|10523320|12515382" MGI:1925901 RGD:1561937 607286 HGNC:17017 "ENST00000296581.11|NM_007080.3" +HGNC:31738 LSM6P1 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 1 pseudogene pseudogene Approved 18q21.33 18q21.33 HsT818 LSM6P "LSM6 homolog, U6 small nuclear RNA associated pseudogene|LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene|LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 1|LSM6 pseudogene 1" 2006-01-24 2010-02-25 2015-07-02 2020-04-20 100129011 NG_016615 PGOHUM00000294678 HGNC:31738 +HGNC:37811 LSM6P2 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 2 pseudogene pseudogene Approved 12q13.12 12q13.12 "LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene 2|LSM6 pseudogene 2" 2010-02-25 2015-07-02 2015-07-02 100462857 ENSG00000257730 OTTHUMG00000169654 NG_021717 PGOHUM00000239773 HGNC:37811 +HGNC:20470 LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated protein-coding gene gene with protein product Approved 19p13.3 19p13.3 YNL147W LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2015-07-02 2015-09-03 51690 ENSG00000130332 OTTHUMG00000180441 uc002lvp.5 AF182293 NM_016199 CCDS45907 Q9UK45 "10369684|10523320|12515382" MGI:1913344 RGD:1305354 607287 HGNC:20470 "ENST00000252622.15|NM_016199.3" +HGNC:20471 LSM8 LSM8 homolog, U6 small nuclear RNA associated protein-coding gene gene with protein product Approved 7q31.31 07q31.31 YJR022W LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2003-02-17 2014-01-21 2015-07-02 2017-08-31 51691 ENSG00000128534 OTTHUMG00000156956 uc002giz.4 AF182294 NM_016200 CCDS5775 O95777 "10523320|19660095" MGI:1923772 RGD:1308442 607288 HGNC:20471 "ENST00000249299.7|NM_016200.5" +HGNC:17562 LSM10 LSM10, U7 small nuclear RNA associated protein-coding gene gene with protein product Approved 1p34.3 01p34.3 MGC15749 LSm proteins 1505 2004-04-28 2014-11-19 84967 ENSG00000181817 OTTHUMG00000008140 uc001cao.1 AF394685 NM_032881 CCDS408 Q969L4 11574479 MGI:2151045 RGD:1584914 617909 HGNC:17562 "ENST00000315732.3|NM_032881.3" +HGNC:30860 LSM11 LSM11, U7 small nuclear RNA associated protein-coding gene gene with protein product Approved 5q33.3 05q33.3 FLJ38273 LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae) LSm proteins 1505 2004-04-26 2004-04-28 2014-11-19 134353 ENSG00000155858 OTTHUMG00000130255 uc003lxf.2 AK095592 NM_173491 CCDS4342 P83369 12975319 MGI:1919540 RGD:1565523 617910 HGNC:30860 "ENST00000286307.6|NM_173491.4" HGNC:30860 +HGNC:26407 LSM12 LSM12 homolog protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ30656 LSM12 homolog (S. cerevisiae) LSm proteins 1505 2006-01-12 2015-07-02 2015-07-02 124801 ENSG00000161654 OTTHUMG00000181804 uc002iev.3 BC044587 NM_152344 CCDS11475 Q3MHD2 15225602 MGI:1919592 RGD:1309441 611793 HGNC:26407 "ENST00000293406.8|NM_001371445.1" +HGNC:32453 LSM12P1 LSM12 pseudogene 1 pseudogene pseudogene Approved 8p12 08p12 LSM12P "LSM12 homolog (S. cerevisiae) pseudogene|LSM12 homolog (S. cerevisiae) pseudogene 1" 2007-08-21 2010-02-25 2013-10-18 2014-11-19 653122 ENSG00000232024 OTTHUMG00000157150 NG_005566 HGNC:32453 +HGNC:24489 LSM14A LSM14A mRNA processing body assembly factor protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "DKFZP434D1335|RAP55A|RAP55" RNA-associated protein 55 "C19orf13|FAM61A" "chromosome 19 open reading frame 13|family with sequence similarity 61, member A|LSM14 homolog A (SCD6, S. cerevisiae)|LSM14A, mRNA processing body assembly factor" LSm proteins 1505 2004-02-11 2006-01-24 2019-01-25 2019-01-25 26065 ENSG00000257103 OTTHUMG00000180491 uc002nva.5 AL834398 NM_015578 "CCDS12435|CCDS46040" Q8ND56 "15225602|22745163" MGI:1914320 RGD:1305695 610677 HGNC:24489 "ENST00000544216.8|NM_015578.4" +HGNC:15887 LSM14B LSM family member 14B protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FT005|bA11M20.3|FLJ25473|LSM13|RAP55B" "C20orf40|FAM61B" "chromosome 20 open reading frame 40|family with sequence similarity 61, member B|LSM14 homolog B (SCD6, S. cerevisiae)|LSM14B, SCD6 homolog B (S. cerevisiae)" LSm proteins 1505 2001-06-21 2006-01-24 2015-06-26 2015-06-26 149986 ENSG00000149657 OTTHUMG00000032901 uc010gjy.2 AF172328 NM_144703 CCDS46626 Q9BX40 15225602 MGI:3040677 RGD:1563798 HGNC:15887 "ENST00000279068.11|NM_144703.3" +HGNC:22036 LSMEM1 leucine rich single-pass membrane protein 1 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 FLJ39575 C7orf53 "chromosome 7 open reading frame 53|leucine-rich single-pass membrane protein 1" 2007-07-10 2013-03-08 2016-04-04 2016-04-04 286006 ENSG00000181016 OTTHUMG00000155190 uc003vgm.4 AK096894 NM_182597 CCDS5756 Q8N8F7 MGI:2685735 RGD:1587073 HGNC:22036 "ENST00000312849.4|NM_182597.3" +HGNC:26781 LSMEM2 leucine rich single-pass membrane protein 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ38608 C3orf45 "chromosome 3 open reading frame 45|leucine-rich single-pass membrane protein 2" 2006-01-13 2013-03-08 2016-04-04 2016-04-04 132228 ENSG00000179564 OTTHUMG00000156938 uc003cyz.4 AK095927 NM_153215 CCDS2814 Q8N112 MGI:3612240 RGD:1589957 HGNC:26781 "ENST00000316436.4|NM_153215.3" +HGNC:6707 LSP1 lymphocyte specific protein 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 WP34 MicroRNA protein coding host genes 1691 1991-08-08 2018-05-08 2018-05-08 4046 ENSG00000130592 OTTHUMG00000012252 uc001luj.3 M33552 NM_002339 "CCDS31335|CCDS58110|CCDS31334" P33241 2174784 MGI:96832 RGD:1306133 153432 HGNC:6707 "ENST00000311604.8|NM_002339.3" +HGNC:39716 LSP1P1 LSP1 pseudogene 1 pseudogene pseudogene Approved 13q12.13 13q12.13 lymphocyte-specific protein 1 pseudogene 1 2011-03-24 2018-05-08 2018-05-08 100463528 ENSG00000269099 OTTHUMG00000186973 NG_023189 HGNC:39716 +HGNC:39717 LSP1P2 LSP1 pseudogene 2 pseudogene pseudogene Approved 3p12.3 03p12.3 lymphocyte-specific protein 1 pseudogene 2 2011-03-24 2018-05-08 2018-05-08 100873967 ENSG00000240665 OTTHUMG00000158854 NG_032351 PGOHUM00000238071 HGNC:39717 +HGNC:39718 LSP1P3 LSP1 pseudogene 3 pseudogene pseudogene Approved 5p13.3 05p13.3 lymphocyte-specific protein 1 pseudogene 3 2011-03-24 2018-05-08 2018-05-08 729862 ENSG00000162685 OTTHUMG00000161933 NR_033961 PGOHUM00000251363 HGNC:39718 +HGNC:53915 LSP1P4 LSP1 pseudogene 4 pseudogene pseudogene Approved 2p11.2 02p11.2 2018-06-06 2018-06-06 2018-06-06 2018-06-06 654342 ENSG00000143429 OTTHUMG00000155083 NR_027238 HGNC:53915 +HGNC:50697 LSP1P5 LSP1 pseudogene 5 pseudogene pseudogene Approved 1q21.1 01q21.1 2018-06-06 2018-06-06 2018-06-06 2018-06-06 645166 NR_027354 HGNC:50697 +HGNC:29572 LSR lipolysis stimulated lipoprotein receptor protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "LISCH7|ILDR3" "lipolysis-stimulated remnant|immunoglobulin-like domain containing receptor 3|angulin-1" Immunoglobulin like domain containing 594 2005-12-09 2020-08-20 51599 ENSG00000105699 OTTHUMG00000183142 uc002nyl.4 AF130366 NM_015925 "CCDS12449|CCDS12450|CCDS12451|CCDS59376" Q86X29 10224102 MGI:1927471 RGD:69236 616582 HGNC:29572 "ENST00000605618.6|NM_205834.4" +HGNC:6708 LSS lanosterol synthase protein-coding gene gene with protein product Approved 21q22.3 21q22.3 OSC Oxidosqualene-lanosterol cyclase lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 1998-05-07 2017-01-09 2017-01-09 4047 ENSG00000160285 OTTHUMG00000090633 uc002zij.4 U22526 NM_001001438 "CCDS13733|CCDS54489|CCDS46654" P48449 "7639730|8655142" MGI:1336155 RGD:620955 600909 436871 objectId:2434 5.4.99.7 HGNC:6708 "ENST00000397728.8|NM_002340.6" HGNC:6708 +HGNC:14189 LST1 leukocyte specific transcript 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "LST-1|B144|D6S49E" 2001-03-09 2002-08-09 2016-10-05 7940 ENSG00000204482 OTTHUMG00000031264 uc003nut.4 U00921 NM_001166538 "CCDS4705|CCDS54984|CCDS54985|CCDS54986|CCDS54987|CCDS43450" O00453 "8824804|9367684" MGI:1096324 RGD:620077 109170 HGNC:14189 "ENST00000438075.7|NM_205839.3" +HGNC:6709 LTA lymphotoxin alpha protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "TNFSF1|LT" TNF superfamily member 1 TNFB lymphotoxin alpha (TNF superfamily, member 1) Tumor necrosis factor superfamily 781 1986-01-01 2013-05-22 2016-10-05 4049 ENSG00000226979 OTTHUMG00000031135 uc011ioe.3 X01393 NM_000595 CCDS4701 P01374 "2995927|3001529" MGI:104797 RGD:3020 153440 ligandId:5064 HGNC:6709 "ENST00000418386.3|NM_000595.4" +HGNC:6710 LTA4H leukotriene A4 hydrolase protein-coding gene gene with protein product Approved 12q23.1 12q23.1 M1 metallopeptidases 1437 1993-07-29 2016-11-09 4048 ENSG00000111144 OTTHUMG00000170355 uc001ten.3 BC032528 NM_000895 "CCDS9059|CCDS58267|CCDS58266" P09960 7628486 MGI:96836 RGD:1311333 151570 M01.004 objectId:1395 3.3.2.6 HGNC:6710 "ENST00000228740.7|NM_000895.3" +HGNC:6711 LTB lymphotoxin beta protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "p33|TNFSF3" TNF superfamily member 3 TNFC Tumor necrosis factor superfamily 781 1995-11-22 2015-11-17 2016-10-05 4050 ENSG00000227507 OTTHUMG00000031136 uc011feg.3 L11015 NM_002341 "CCDS4704|CCDS4703" Q06643 "7916655|1714477" MGI:104796 RGD:1303162 600978 ligandId:5075 HGNC:6711 "ENST00000429299.3|NM_002341.2" +HGNC:6713 LTB4R leukotriene B4 receptor protein-coding gene gene with protein product Approved 14q12 14q12 "BLTR|P2Y7|LTB4R1" "P2RY7|GPR16|CMKRL1" Leukotriene receptors 204 1998-09-25 2016-10-05 1241 ENSG00000213903 OTTHUMG00000029346 uc001wos.4 X98356 NM_001143919 CCDS9626 Q15722 "8921391|8702478" MGI:1309472 RGD:620410 601531 objectId:267 HGNC:6713 "ENST00000345363.8|NM_001143919.3" +HGNC:19260 LTB4R2 leukotriene B4 receptor 2 protein-coding gene gene with protein product Approved 14q12 14q12 "BLTR2|BLT2|JULF2|NOP9" Leukotriene receptors 204 2002-09-19 2016-04-25 56413 ENSG00000213906 OTTHUMG00000186500 uc001wor.4 AB008193 NM_001164692 CCDS9625 Q9NPC1 "11006272|10934229" MGI:1888501 RGD:621029 605773 objectId:268 HGNC:19260 "ENST00000533293.2|NM_019839.5" +HGNC:6714 LTBP1 latent transforming growth factor beta binding protein 1 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 TGF-beta1-BP-1 Latent transforming growth factor beta binding proteins 628 1993-09-20 2019-05-08 4052 ENSG00000049323 OTTHUMG00000152118 uc021vft.2 NM_206943 "CCDS33177|CCDS54344|CCDS54345|CCDS33178" Q14766 "2350783|11104663" MGI:109151 RGD:68379 150390 HGNC:6714 "ENST00000404816.7|NM_206943.4" +HGNC:6715 LTBP2 latent transforming growth factor beta binding protein 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "LTBP3|C14orf141" chromosome 14 open reading frame 141 Latent transforming growth factor beta binding proteins 628 1995-05-11 2001-12-04 2021-05-26 4053 ENSG00000119681 OTTHUMG00000171476 uc001xqa.4 NM_000428 CCDS9831 Q14767 7798248 MGI:99502 RGD:68380 602091 189348 HGNC:6715 "ENST00000261978.9|NM_000428.3" HGNC:6715 +HGNC:6716 LTBP3 latent transforming growth factor beta binding protein 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 LTBP2 Latent transforming growth factor beta binding proteins 628 1995-05-11 2021-05-26 4054 ENSG00000168056 OTTHUMG00000166575 uc001oej.4 AF135960 NM_021070 "CCDS8103|CCDS44647" Q9NS15 7719025 MGI:1101355 RGD:62057 602090 189127 HGNC:6716 "ENST00000301873.11|NM_001130144.3" HGNC:6716 +HGNC:6717 LTBP4 latent transforming growth factor beta binding protein 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "LTBP-4|LTBP-4L|FLJ46318|FLJ90018" Latent transforming growth factor beta binding proteins 628 1998-11-18 2021-05-26 8425 ENSG00000090006 OTTHUMG00000182635 uc032hxp.2 Y13622 NM_003573 "CCDS74368|CCDS74369|CCDS74370" Q8N2S1 "9660815|9271198" MGI:1321395 RGD:1307033 604710 225264 HGNC:6717 "ENST00000396819.8|NM_001042545.2" HGNC:6717 +HGNC:6718 LTBR lymphotoxin beta receptor protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "TNFCR|TNFR-RP|TNFR2-RP|TNF-R-III|TNFRSF3" TNFR superfamily, member 3 D12S370 Tumor necrosis factor receptor superfamily 782 1996-03-12 2015-11-17 2019-08-21 4055 ENSG00000111321 OTTHUMG00000168356 uc001qny.3 L04270 NM_001270987 "CCDS8544|CCDS59233" P36941 "8171323|8486360" MGI:104875 RGD:1309448 600979 objectId:1872 HGNC:6718 "ENST00000228918.9|NM_002342.3" +HGNC:6719 LTC4S leukotriene C4 synthase protein-coding gene gene with protein product Approved 5q35.3 05q35.3 MGC33147 1994-11-24 2016-10-05 4056 ENSG00000213316 OTTHUMG00000150314 uc003mko.4 U11552 NM_000897 CCDS34316 Q16873 8052639 MGI:107498 RGD:620677 246530 123313 objectId:1391 4.4.1.20 HGNC:6719 "ENST00000292596.15|NM_145867.2" +HGNC:6720 LTF lactotransferrin protein-coding gene gene with protein product Approved 3p21.31 03p21.31 HLF2 Transferrins 908 2001-06-22 2015-09-03 4057 ENSG00000012223 OTTHUMG00000156325 uc003cpq.5 NM_002343 "CCDS56251|CCDS33747|CCDS82763" P02788 "17476971|3356163" MGI:96837 RGD:1305445 150210 HGNC:6720 "ENST00000231751.9|NM_002343.6" +HGNC:6721 LTK leukocyte receptor tyrosine kinase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 TYK1 leukocyte tyrosine kinase Receptor tyrosine kinases 321 1991-06-28 2008-01-23 2016-10-05 4058 ENSG00000062524 OTTHUMG00000130339 uc001zoa.4 D16105 NM_001135685 "CCDS45237|CCDS10078|CCDS10077" P29376 2320375 MGI:96840 RGD:1309323 151520 objectId:1838 2.7.10.1 HGNC:6721 "ENST00000263800.11|NM_002344.6" +HGNC:13082 LTN1 listerin E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "KIAA0714|FLJ11053|LISTERIN" listerin "C21orf98|C21orf10|ZNF294|RNF160" "chromosome 21 open reading frame 98|zinc finger protein 294|ring finger protein 160" "Ring finger proteins|Armadillo like helical domain containing" "58|1492" 2000-03-15 2010-09-17 2010-09-17 2016-04-25 26046 ENSG00000198862 OTTHUMG00000078803 uc061zjm.1 AK001915 NM_015565 CCDS33527 O94822 "20835226|19196968" MGI:1926163 RGD:1311238 613083 HGNC:13082 "ENST00000361371.10|NM_015565.3" +HGNC:17589 LTO1 LTO1 maturation factor of ABCE1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "TAOS1|CIAB1" oral cancer overexpressed protein 1-A ORAOV1 "oral cancer overexpressed 1|LTO1, ABCE1 maturation factor" 2002-04-26 2018-05-17 2019-01-31 2019-01-31 220064 ENSG00000149716 OTTHUMG00000167885 uc001opc.4 NM_153451 CCDS8192 Q8WV07 "12172009|23318452" MGI:1919534 RGD:1304637 607224 HGNC:17589 "ENST00000279147.9|NM_153451.3" +HGNC:39203 LTO1P1 LTO1 pseudogene 1 pseudogene pseudogene Approved 4q35.1 04q35.1 ORAOV1P1 oral cancer overexpressed 1 pseudogene 1 2010-11-23 2021-03-24 2021-03-24 2021-03-24 100873907 ENSG00000251008 OTTHUMG00000160357 NG_032235 PGOHUM00000245789 HGNC:39203 +HGNC:21173 LTV1 LTV1 ribosome biogenesis factor protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "FLJ14909|dJ468K18.4" C6orf93 "chromosome 6 open reading frame 93|LTV1 homolog (S. cerevisiae)" SSU processome 1484 2003-05-22 2006-02-06 2014-02-03 2014-11-19 84946 ENSG00000135521 OTTHUMG00000015733 uc003qjs.4 BC009855 NM_032860 CCDS5201 Q96GA3 MGI:2447810 RGD:1311264 HGNC:21173 "ENST00000367576.6|NM_032860.5" +HGNC:44049 LTV1P1 LTV1 ribosome biogenesis factor pseudogene 1 pseudogene pseudogene Approved 4q27 04q27 LTV1 homolog (S. cerevisiae) pseudogene 1 2012-05-30 2015-06-26 2015-06-26 100289220 ENSG00000250219 OTTHUMG00000161330 NG_022033 PGOHUM00000245680 HGNC:44049 +HGNC:51845 LUADT1 lung adenocarcinoma associated transcript 1 non-coding RNA RNA, long non-coding Approved 6q24.3 06q24.3 Long non-coding RNAs with non-systematic symbols 1992 2015-08-21 2018-08-23 106182249 ENSG00000196634 OTTHUMG00000015761 NR_132442 "26291312|29762830" LUADT1 HGNC:51845 +HGNC:40992 LUARIS lncRNA upregulator of antiviral response interferon signaling non-coding RNA RNA, long non-coding Approved 7p13 07p13 "lncRNA#32|SCAT6" S-phase cancer-associated transcript 6 Long non-coding RNAs with non-systematic symbols 1992 2017-03-29 2018-08-03 100506895 ENSG00000231638 OTTHUMG00000155206 NR_038276 "27582466|29491376" 618172 HGNC:40992 +HGNC:6723 LUC7L LUC7 like protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "LUC7B1|hLuc7B1|Luc7" "LUC7 (S. cerevisiae)-like|LUC7-like (S. cerevisiae)|LUC7-like" 2000-08-24 2016-03-21 2016-03-21 55692 ENSG00000007392 OTTHUMG00000060730 uc002cgc.2 AY005111 NM_201412 "CCDS32348|CCDS10401|CCDS81921" Q9NQ29 MGI:1914228 RGD:1307542 607782 HGNC:6723 "ENST00000293872.13|NM_201412.3" +HGNC:21608 LUC7L2 LUC7 like 2, pre-mRNA splicing factor protein-coding gene gene with protein product Approved 7q34 07q34 "CGI-74|CGI-59|H_NH0792N18.3|FLJ10657|LUC7B2|hLuc7B2" CGI-74 protein LUC7-like 2 (S. cerevisiae) 2003-07-15 2016-06-13 2016-06-13 51631 ENSG00000146963 OTTHUMG00000185163 uc003vux.5 AF151832 NM_016019 "CCDS59510|CCDS43656|CCDS59085" Q9Y383 17656373 MGI:2183260 RGD:1308651 613056 HGNC:21608 "ENST00000354926.9|NM_016019.5" +HGNC:24309 LUC7L3 LUC7 like 3 pre-mRNA splicing factor protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "LUC7A|CROP|OA48-18|CREAP-1|FLJ11063|CRA|hLuc7A" "cisplatin resistance associated overexpressed protein|CRE-associated protein" "LUC7-like 3 (S. cerevisiae)|LUC7-like 3 pre-mRNA splicing factor" 2009-08-20 2016-03-30 2016-03-30 51747 ENSG00000108848 OTTHUMG00000162257 uc002iss.4 NM_016424 "CCDS82158|CCDS11573" O95232 "10631324|12565863|17726058" MGI:1914934 RGD:1307981 609434 HGNC:24309 "ENST00000505658.6|NM_016424.5" +HGNC:39790 LUC7L3P1 LUC7 like 3 pre-mRNA splicing factor pseudogene 1 pseudogene pseudogene Approved 13q21.33 13q21.33 LUC7-like 3 (S. cerevisiae) pseudogene 1 2011-03-29 2016-06-27 2016-06-27 100420198 NG_024867 HGNC:39790 +HGNC:48498 LUCAT1 lung cancer associated transcript 1 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 "SCAL1|SCAT5" "smoke and cancer associated lncRNA 1|S-phase cancer-associated transcript 7" lung cancer associated transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-18 2018-05-16 2018-08-03 100505994 ENSG00000248323 OTTHUMG00000162611 "BQ232757|AK091866|BF218178" NR_103548 "23672216|28423699|30032137" 618190 lucat1 LUCAT1 HGNC:48498 +HGNC:6724 LUM lumican protein-coding gene gene with protein product Approved 12q21.33 12q21.33 SLRR2D lumican proteoglycan LDC Small leucine rich repeat proteoglycans 573 1994-12-19 2014-06-13 4060 ENSG00000139329 OTTHUMG00000170074 uc001tbm.4 BT006707 NM_002345 CCDS9038 P51884 7558030 MGI:109347 RGD:620984 600616 HGNC:6724 "ENST00000266718.5|NM_002345.4" +HGNC:51199 LUNAR1 leukemia-associated non-coding IGF1R activator RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 leukemia-induced noncoding activator RNA Long non-coding RNAs with non-systematic symbols 1992 2014-08-07 2018-07-16 104564224 ENSG00000278090 OTTHUMG00000173033 NR_126487 "25083870|26796267" HGNC:51199 +HGNC:32327 LURAP1 leucine rich adaptor protein 1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLJ25163|LRAP35a" leucine repeat adaptor protein 35a C1orf190 chromosome 1 open reading frame 190 2005-10-11 2012-02-01 2012-02-01 2014-11-19 541468 ENSG00000171357 OTTHUMG00000007605 uc010oma.3 AK057892 NM_001013615 CCDS30703 Q96LR2 21048106 MGI:1915325 RGD:1566001 616129 HGNC:32327 "ENST00000371980.4|NM_001013615.3" +HGNC:31452 LURAP1L leucine rich adaptor protein 1 like protein-coding gene gene with protein product Approved 9p23 09p23 "MGC46502|FLJ38505|bA3L8.2|LRAP35b" similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed C9orf150 "chromosome 9 open reading frame 150|leucine rich adaptor protein 1-like" 2004-04-20 2012-02-01 2016-03-16 2018-05-10 286343 ENSG00000153714 OTTHUMG00000019557 uc003zkw.4 AK095824 NM_203403 CCDS6473 Q8IV03 12766061 MGI:106510 RGD:1308059 616130 HGNC:31452 "ENST00000319264.4|NM_203403.2" +HGNC:49761 LURAP1L-AS1 LURAP1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p23 09p23 Antisense RNAs 1987 2014-02-14 2014-02-14 101929467 ENSG00000235448 OTTHUMG00000019558 BQ416907 NR_125775 LURAP1L-AS1 HGNC:49761 +HGNC:14985 LUZP1 leucine zipper protein 1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 LUZP 2001-03-27 2016-10-05 7798 ENSG00000169641 OTTHUMG00000003227 uc001bgm.2 BC051733 NM_033631 CCDS30628 Q86V48 8812416 MGI:107629 RGD:61839 601422 HGNC:14985 +HGNC:23206 LUZP2 leucine zipper protein 2 protein-coding gene gene with protein product Approved 11p14.3 11p14.3 2003-10-09 2014-11-19 338645 ENSG00000187398 OTTHUMG00000166109 uc001mqs.4 AL832641 NM_001009909 "CCDS31446|CCDS58128" Q86TE4 12856284 MGI:1889615 RGD:6496163 608178 HGNC:23206 "ENST00000336930.11|NM_001009909.4" +HGNC:24971 LUZP4 leucine zipper protein 4 protein-coding gene gene with protein product Approved Xq23 Xq23 "HOM-TES-85|CT-8|CT28" cancer/testis antigen 28 Transcription and export complex 1 subunits 1348 2004-09-01 2020-04-02 51213 ENSG00000102021 OTTHUMG00000022234 uc004eqa.4 AF124430 NM_016383 CCDS14567 Q9P127 "12032826|11051238" RGD:1584898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/LUZP4 300616 HGNC:24971 "ENST00000371920.4|NM_016383.5" +HGNC:44904 LUZP4P1 leucine zipper protein 4 pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p12.31 2012-12-18 2012-12-18 101060111 ENSG00000232853 OTTHUMG00000017791 PGOHUM00000238692 +HGNC:33955 LUZP6 leucine zipper protein 6 protein-coding gene gene with protein product Approved 7q33 07q33 "MTPNUT|MPD6" myotrophin 3'UTR transcript 2008-02-14 2020-04-01 767558 OTTHUMG00000180445 uc064iig.1 "AF130088|AY611627" NM_001128619 CCDS59509 Q538Z0 16982933 611050 HGNC:33955 +HGNC:26904 LVRN laeverin protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "APQ|FLJ90650|AQPEP|TAQPEP" aminopeptidase Q "Aminopeptidases|M1 metallopeptidases" "104|1437" 2015-02-05 2015-08-25 206338 ENSG00000172901 OTTHUMG00000128890 AK075131 NM_173800 CCDS4124 Q6Q4G3 17525158 MGI:1921824 RGD:1562779 610046 objectId:1562 HGNC:26904 "ENST00000357872.9|NM_173800.5" +HGNC:13347 LXN latexin protein-coding gene gene with protein product Approved 3q25.32 03q25.32 2004-04-30 2015-08-25 56925 ENSG00000079257 OTTHUMG00000158807 uc003fch.3 AF087851 NM_020169 CCDS3183 Q9BS40 MGI:107633 RGD:68361 609305 I47.001 HGNC:13347 "ENST00000264265.4|NM_020169.4" +HGNC:13348 LY6D lymphocyte antigen 6 family member D protein-coding gene gene with protein product Approved 8q24.3 08q24.3 E48 lymphocyte antigen 6 complex, locus D LY6/PLAUR domain containing 1226 2004-01-22 2017-01-27 2017-01-27 8581 ENSG00000167656 OTTHUMG00000164693 uc003yxf.2 U66837 NM_003695 CCDS6390 Q14210 "7790363|9551972" MGI:96881 RGD:1306132 606204 HGNC:13348 "ENST00000301263.5|NM_003695.3" +HGNC:6727 LY6E lymphocyte antigen 6 family member E protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "TSA-1|RIG-E|SCA-2" retinoic acid induced gene E lymphocyte antigen 6 complex, locus E LY6/PLAUR domain containing 1226 1998-06-19 2017-01-27 2021-05-26 4061 ENSG00000160932 OTTHUMG00000164754 uc064qwc.1 U42376 NM_001127213 CCDS6394 Q16553 "8757598|8650192" MGI:106651 RGD:1565342 601384 HGNC:6727 "ENST00000292494.11|NM_002346.3" +HGNC:53728 LY6E-DT LY6E divergent transcript non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 LOC100133669 Divergent transcripts 1990 2017-09-08 2017-09-08 100133669 ENSG00000247317 OTTHUMG00000164752 NR_026913 28871211 HGNC:53728 +HGNC:13931 LY6G5B lymphocyte antigen 6 family member G5B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 G5b C6orf19 "chromosome 6 open reading frame 19|lymphocyte antigen 6 complex, locus G5B" LY6/PLAUR domain containing 1226 2002-04-05 2002-08-01 2017-01-27 2017-01-27 58496 ENSG00000240053 OTTHUMG00000031227 uc063yxf.1 AF129756 NM_021221 CCDS34400 Q8NDX9 "8812450|12079290|17008713" MGI:2385809 RGD:1303101 610433 HGNC:13931 +HGNC:13932 LY6G5C lymphocyte antigen 6 family member G5C protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G5c|NG33" C6orf20 "chromosome 6 open reading frame 20|lymphocyte antigen 6 complex, locus G5C" LY6/PLAUR domain containing 1226 2002-04-05 2002-08-01 2017-01-27 2017-01-27 80741 ENSG00000204428 OTTHUMG00000031228 uc011jlt.2 NM_025262 CCDS34401 Q5SRR4 12079290 MGI:2148974 RGD:735180 610434 HGNC:13932 +HGNC:13936 LY6G6C lymphocyte antigen 6 family member G6C protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G6c|NG24" C6orf24 "chromosome 6 open reading frame 24|lymphocyte antigen 6 complex, locus G6C" LY6/PLAUR domain containing 1226 2002-04-05 2002-08-01 2017-01-27 2017-01-27 80740 ENSG00000204421 OTTHUMG00000031251 uc003nwh.4 NM_025261 CCDS4714 O95867 "10384126|12079290" MGI:2148930 RGD:1302999 610435 HGNC:13936 "ENST00000375819.3|NM_025261.3" +HGNC:13935 LY6G6D lymphocyte antigen 6 family member G6D protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "MEGT1|Ly6-D|G6D|LY6-D|NG25" C6orf23 "chromosome 6 open reading frame 23|lymphocyte antigen 6 complex, locus G6D" LY6/PLAUR domain containing 1226 2002-04-05 2002-08-01 2017-01-27 2017-01-27 58530 ENSG00000244355 OTTHUMG00000137370 uc011iqp.2 NM_021246 CCDS34404 O95868 12079290 MGI:2148931 RGD:1303064 606038 HGNC:13935 "ENST00000375825.8|NM_021246.4" +HGNC:13934 LY6G6E lymphocyte antigen 6 family member G6E other unknown Approved 6p21.33 06p21.33 G6e C6orf22 "chromosome 6 open reading frame 22|lymphocyte antigen 6 complex, locus G6E (pseudogene)|lymphocyte antigen 6 complex, locus G6E" LY6/PLAUR domain containing 1226 2002-04-05 2002-08-01 2017-01-27 2019-06-26 79136 ENSG00000255552 OTTHUMG00000166419 uc063yxz.1 NR_024541 12079290 MGI:1917524 RGD:1303112 610437 HGNC:13934 +HGNC:13933 LY6G6F lymphocyte antigen 6 family member G6F protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G6f|NG32" "LY6G6D|C6orf21" "chromosome 6 open reading frame 21|lymphocyte antigen 6 complex, locus G6F" "V-set domain containing|LY6/PLAUR domain containing" "590|1226" 2002-08-05 2008-05-21 2017-01-27 2017-01-27 259215 ENSG00000204424 OTTHUMG00000031252 uc003nwa.2 NM_001003693 CCDS34403 Q5SQ64 12852788 MGI:3616082 RGD:1303333 611404 HGNC:13933 "ENST00000375832.5|NM_001003693.3" +HGNC:38821 LY6G6F-LY6G6D LY6G6F-LY6G6D readthrough other readthrough Approved 6p21.33 06p21.33 "MEGT1|MEGT-1|G6F-LY6G6D" megakaryocyte-enhanced gene transcript 1 protein 2019-10-23 2019-10-23 110599563 ENSG00000250641 OTTHUMG00000162247 NM_001353334 CCDS87383 18817541 +HGNC:6728 LY6H lymphocyte antigen 6 family member H protein-coding gene gene with protein product Approved 8q24.3 08q24.3 NMLY6 lymphocyte antigen 6 complex, locus H LY6/PLAUR domain containing 1226 1998-06-19 2017-01-27 2017-01-27 4062 ENSG00000176956 OTTHUMG00000154890 uc064qww.1 AB012293 NM_001130478 "CCDS6396|CCDS47926" O94772 9799603 MGI:1346030 RGD:1311896 603625 HGNC:6728 "ENST00000342752.9|NM_001135655.2" +HGNC:24225 LY6K lymphocyte antigen 6 family member K protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "HSJ001348|FLJ35226|CT97" cancer/testis antigen 97 lymphocyte antigen 6 complex, locus K LY6/PLAUR domain containing 1226 2004-11-11 2017-01-27 2017-01-27 54742 ENSG00000160886 OTTHUMG00000164720 uc011ljv.3 AK092545 NM_017527 "CCDS59114|CCDS6385" Q17RY6 12516096 MGI:1923736 RGD:2322953 615093 HGNC:24225 "ENST00000292430.10|NM_017527.4" +HGNC:52284 LY6L lymphocyte antigen 6 family member L protein-coding gene gene with protein product Approved 8q24.3 08q24.3 lymphocyte antigen 6 complex, locus L LY6/PLAUR domain containing 1226 2016-03-29 2017-01-27 2017-01-27 101928108 ENSG00000261667 OTTHUMG00000173037 NM_001368160 H3BQJ8 MGI:5313101 RGD:1597652 HGNC:52284 "ENST00000562505.2|NM_001368160.2" +HGNC:6730 LY9 lymphocyte antigen 9 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CD229|mLY9|SLAMF3|hly9" "CD molecules|Immunoglobulin like domain containing" "471|594" 1998-06-05 2014-11-18 4063 ENSG00000122224 OTTHUMG00000024007 uc001fwu.5 L42621 NM_002348 "CCDS65696|CCDS30916|CCDS65695|CCDS30917" Q9HBG7 "8537117|7797269" MGI:96885 RGD:1308341 600684 CD229 HGNC:6730 "ENST00000263285.11|NM_002348.4" +HGNC:6729 LY75 lymphocyte antigen 75 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "DEC-205|CLEC13B|CD205" "CD molecules|Minor histocompatibility antigens|Scavenger receptors|C-type lectin domain containing" "471|870|1253|1298" 1997-12-17 2016-10-05 4065 ENSG00000054219 OTTHUMG00000132025 uc002ubc.6 AF011333 NM_002349 CCDS2211 O60449 9553150 MGI:106662 RGD:1565962 604524 CD205 HGNC:6729 "ENST00000263636.5|NM_002349.4" +HGNC:38828 LY75-CD302 LY75-CD302 readthrough other readthrough Approved 2q24.2 02q24.2 2011-04-19 2014-11-19 100526664 ENSG00000248672 OTTHUMG00000161661 uc002ubb.5 NM_001198759 "CCDS56141|CCDS56140" MGI:106662 HGNC:38828 +HGNC:16837 LY86 lymphocyte antigen 86 protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "MD-1|dJ80N2.1" MD-2 related lipid recognition domain containing 2129 2003-02-19 2016-10-05 9450 ENSG00000112799 OTTHUMG00000014190 uc063lqc.1 AF057178 NM_004271 CCDS4498 O95711 9763566 MGI:1321404 RGD:1309936 605241 HGNC:16837 "ENST00000230568.5|NM_004271.4" +HGNC:26593 LY86-AS1 LY86 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.1 06p25.1 FLJ33708 "LY86AS|LY86-AS" "LY86 antisense RNA (non-protein coding)|LY86 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-07-08 2010-11-25 2012-08-15 2019-07-11 285780 ENSG00000216863 OTTHUMG00000014192 uc003mww.5 AK091027 NR_026970 31280115 LY86-AS1 HGNC:26593 +HGNC:17156 LY96 lymphocyte antigen 96 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 MD-2 MD-2 related lipid recognition domain containing 2129 2003-02-19 2016-10-05 23643 ENSG00000154589 OTTHUMG00000164504 uc003yad.4 AB018549 NM_015364 "CCDS56540|CCDS6216" Q9Y6Y9 "10359581|11466383" MGI:1341909 RGD:1302993 605243 objectId:2890 HGNC:17156 "ENST00000284818.7|NM_015364.5" +HGNC:26021 LYAR Ly1 antibody reactive protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "ZC2HC2|ZLYAR" cell growth-regulating nucleolar protein Ly1 antibody reactive homolog (mouse) Zinc fingers C2HC-type 66 2007-06-04 2012-12-07 2020-03-13 55646 ENSG00000145220 OTTHUMG00000125477 uc003ght.4 AL136750 NM_017816 CCDS3374 Q9NX58 "11230166|8491376" MGI:107470 RGD:1305352 617684 HGNC:26021 "ENST00000343470.9|NM_017816.3" +HGNC:50747 LYARP1 Ly1 antibody reactive pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2014-06-13 2014-06-13 100420968 ENSG00000229560 OTTHUMG00000152954 NG_023577 PGOHUM00000240114 HGNC:50747 +HGNC:27014 LYG1 lysozyme g1 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "SALW1939|LYGA1" lysozyme G-like 1 Lysozymes, g-type 1173 2007-06-28 2016-01-12 2020-10-19 129530 ENSG00000144214 OTTHUMG00000130639 uc010yvo.3 BC029126 NM_174898 CCDS2043 Q8N1E2 12574869 MGI:1916791 RGD:1560332 HGNC:27014 "ENST00000308528.9|NM_174898.3" +HGNC:29615 LYG2 lysozyme g2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "LYGH|LYGA2" lysozyme G-like 2 Lysozymes, g-type 1173 2007-06-28 2016-01-12 2020-10-19 254773 ENSG00000185674 OTTHUMG00000130643 uc002szw.2 AF323919 NM_175735 CCDS2042 Q86SG7 "8889548|12574869" MGI:2685622 RGD:6496811 616547 HGNC:29615 "ENST00000333017.7|NM_175735.4" +HGNC:6734 LYL1 LYL1 basic helix-loop-helix family member protein-coding gene gene with protein product Approved 19p13.13 19p13.13 bHLHa18 "lymphoblastic leukemia derived sequence 1|lymphoblastic leukemia associated hematopoiesis regulator 1" Basic helix-loop-helix proteins 420 1990-03-21 2019-01-22 2019-01-22 4066 ENSG00000104903 OTTHUMG00000180736 uc002mwi.4 NM_005583 CCDS12292 P12980 2752424 MGI:96891 RGD:1359244 LYL1 151440 HGNC:6734 "ENST00000264824.5|NM_005583.5" +HGNC:6735 LYN LYN proto-oncogene, Src family tyrosine kinase protein-coding gene gene with protein product Approved 8q12.1 08q12.1 JTK8 v-yes-1 Yamaguchi sarcoma viral related oncogene homolog "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1986-01-01 2014-06-25 2016-10-05 4067 ENSG00000254087 OTTHUMG00000044345 uc003xsk.5 M16038 NM_002350 "CCDS6162|CCDS47859" P07948 3561390 MGI:96892 RGD:621017 165120 objectId:2060 HGNC:6735 "ENST00000519728.6|NM_002350.4" +HGNC:29604 LYNX1 Ly6/neurotoxin 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 SLURP2 LY6/PLAUR domain containing 1226 2004-11-03 2017-02-06 66004 ENSG00000180155 OTTHUMG00000191912 uc033cbo.2 AF321824 NM_177476 CCDS6389 P0DP58 "12573258|10402197" MGI:1345180 RGD:1312017 606110 HGNC:29604 "ENST00000652477.1|NM_177477.4" +HGNC:52291 LYNX1-SLURP2 LYNX1-SLURP2 readthrough other readthrough Approved 8q24.3 08q24.3 2017-10-04 2017-10-04 111188157 ENSG00000284505 OTTHUMG00000191911 NM_023946 MGI:1345180 HGNC:52291 +HGNC:28431 LYPD1 LY6/PLAUR domain containing 1 protein-coding gene gene with protein product Approved 2q21.2 02q21.2 MGC29643 LYPDC1 LY6/PLAUR domain containing 1226 2004-11-16 2005-08-30 2014-11-19 116372 ENSG00000150551 OTTHUMG00000153609 uc002ttn.4 AK075487 NM_144586 "CCDS42759|CCDS46416" Q8N2G4 12477932 MGI:1919835 RGD:1549754 610450 HGNC:28431 "ENST00000397463.3|NM_144586.7" +HGNC:25215 LYPD2 LY6/PLAUR domain containing 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "RGTR430|UNQ430" LYPDC2 LY6/PLAUR domain containing 1226 2004-11-16 2005-08-30 2014-11-19 137797 ENSG00000197353 OTTHUMG00000164686 uc003ywz.4 AY358432 NM_205545 CCDS6388 Q6UXB3 12975309 MGI:1915561 RGD:1307892 HGNC:25215 "ENST00000359228.4|NM_205545.3" +HGNC:24880 LYPD3 LY6/PLAUR domain containing 3 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 C4.4A LY6/PLAUR domain containing 1226 2005-08-30 2015-07-22 27076 ENSG00000124466 OTTHUMG00000182696 uc002owl.2 AF082889 NM_014400 CCDS12620 O95274 "11179665|11245483" MGI:1919684 RGD:69053 609484 HGNC:24880 "ENST00000244333.4|NM_014400.3" +HGNC:28659 LYPD4 LY6/PLAUR domain containing 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MGC42718 LY6/PLAUR domain containing 1226 2005-08-30 2015-07-22 147719 ENSG00000273111 OTTHUMG00000182674 uc032hyg.2 AY358726 NM_173506 "CCDS12587|CCDS77303" Q6UWN0 12975309 MGI:2687054 RGD:1583497 HGNC:28659 "ENST00000609812.6|NM_173506.7" +HGNC:26397 LYPD5 LY6/PLAUR domain containing 5 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ30469 LY6/PLAUR domain containing 1226 2005-08-30 2015-07-22 284348 ENSG00000159871 OTTHUMG00000182781 uc002oxn.5 AK055031 NM_182573 "CCDS46096|CCDS12631" Q6UWN5 12477932 MGI:1924192 RGD:1560355 619618 HGNC:26397 "ENST00000377950.8|NM_001031749.3" +HGNC:28751 LYPD6 LY6/PLAUR domain containing 6 protein-coding gene gene with protein product Approved 2q23.2 02q23.2 MGC52057 LY6/PLAUR domain containing 1226 2006-07-17 2014-11-19 130574 ENSG00000187123 OTTHUMG00000131852 uc021vqt.2 BC047013 NM_194317 CCDS2188 Q86Y78 12477932 MGI:2443848 RGD:1587119 613359 HGNC:28751 "ENST00000334166.9|NM_194317.5" HGNC:28751 +HGNC:27018 LYPD6B LY6/PLAUR domain containing 6B protein-coding gene gene with protein product Approved 2q23.2 02q23.2 "CT116|LYPD7" cancer/testis antigen 116 LY6/PLAUR domain containing 1226 2008-07-25 2015-08-25 130576 ENSG00000150556 OTTHUMG00000153743 uc002twv.2 NM_177964 "CCDS46423|CCDS82519" Q8NI32 18360792 MGI:1919147 RGD:1562767 HGNC:27018 "ENST00000409642.8|NM_177964.5" +HGNC:44208 LYPD8 LY6/PLAUR domain containing 8 protein-coding gene gene with protein product Approved 1q44 01q44 LY6/PLAUR domain containing 1226 2012-07-20 2015-07-31 646627 ENSG00000259823 OTTHUMG00000174833 uc031vuv.2 NM_001085474 CCDS73059 Q6UX82 MGI:1917413 RGD:1586251 617067 HGNC:44208 "ENST00000590317.4|NM_001085474.2" +HGNC:53735 LYPD9P LY6/PLAUR domain containing 9, pseudogene pseudogene pseudogene Approved 1q44 01q44 2018-11-23 2018-11-23 101928226 ENSG00000229703 OTTHUMG00000153448 NR_125950 MGI:2685370 HGNC:53735 +HGNC:6737 LYPLA1 lysophospholipase 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "LPL1|APT-1" acyl-protein thioesterase 1 lysophospholipase I Depalmitoylases 1749 1999-09-29 2018-10-25 2018-10-25 10434 ENSG00000120992 OTTHUMG00000164313 uc003xry.4 AF081281 NM_001279356 "CCDS75738|CCDS6157|CCDS64899|CCDS75739" O75608 10064899 MGI:1344588 RGD:3025 605599 3.1.1.5 HGNC:6737 "ENST00000316963.8|NM_006330.4" +HGNC:44005 LYPLA1P1 LYPLA1 pseudogene 1 pseudogene pseudogene Approved 7q31.32 07q31.32 lysophospholipase I pseudogene 1 2012-05-28 2018-10-25 2018-10-25 100129401 ENSG00000223595 OTTHUMG00000157088 NG_022546 PGOHUM00000232979 HGNC:44005 +HGNC:44006 LYPLA1P2 LYPLA1 pseudogene 2 pseudogene pseudogene Approved 4q25 04q25 lysophospholipase I pseudogene 2 2012-05-28 2018-10-25 2018-10-25 391686 ENSG00000251483 OTTHUMG00000161117 NG_022025 PGOHUM00000258174 HGNC:44006 +HGNC:44007 LYPLA1P3 LYPLA1 pseudogene 3 pseudogene pseudogene Approved 6q13 06q13 lysophospholipase I pseudogene 3 2012-05-28 2018-10-25 2018-10-25 157713 ENSG00000218350 OTTHUMG00000014999 NG_001063 PGOHUM00000258219 HGNC:44007 +HGNC:6738 LYPLA2 lysophospholipase 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 APT-2 acyl-protein thioesterase 2 lysophospholipase II Depalmitoylases 1749 1999-09-29 2018-10-25 2018-10-25 11313 ENSG00000011009 OTTHUMG00000002961 uc001bht.4 AF098668 NM_007260 CCDS241 O95372 MGI:1347000 RGD:620210 616143 S09.025 3.1.1.5 HGNC:6738 "ENST00000374514.8|NM_007260.3" +HGNC:21069 LYPLA2P1 LYPLA2 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 "dJ570F3.6|APT" LYPLA2L "lysophospholipase 2 like|lysophospholipase II pseudogene 1" 2003-05-23 2018-10-25 2018-10-25 653639 ENSG00000228285 OTTHUMG00000031128 NR_001444 PGOHUM00000243156 HGNC:21069 +HGNC:50445 LYPLA2P2 LYPLA2 pseudogene 2 pseudogene pseudogene Approved 19p13.2 19p13.2 lysophospholipase II pseudogene 2 2014-04-29 2018-10-25 2018-10-25 388499 ENSG00000269153 OTTHUMG00000182507 NR_033250 PGOHUM00000234126 HGNC:50445 +HGNC:50446 LYPLA2P3 LYPLA2 pseudogene 3 pseudogene pseudogene Approved 9q21.2 09q21.2 lysophospholipase II pseudogene 3 2014-04-29 2018-10-25 2018-10-25 100128790 ENSG00000236604 OTTHUMG00000020049 NG_021664 PGOHUM00000263239 HGNC:50446 +HGNC:20440 LYPLAL1 lysophospholipase like 1 protein-coding gene gene with protein product Approved 1q41 01q41 Q96AV0 lysophospholipase-like 1 2003-02-07 2016-01-21 2016-01-21 127018 ENSG00000143353 OTTHUMG00000037141 uc001hlq.5 BC016711 NM_138794 "CCDS1522|CCDS73032" Q5VWZ2 MGI:2385115 RGD:1311195 616548 HGNC:20440 "ENST00000366928.10|NM_138794.5" +HGNC:54054 LYPLAL1-AS1 LYPLAL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2018-09-26 2018-09-26 102723886 ENSG00000228536 NR_135822 HGNC:54054 +HGNC:50560 LYPLAL1-DT LYPLAL1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q41 01q41 LYPLAL1-AS1 LYPLAL1 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-05-21 2018-03-23 2018-03-23 2018-03-23 643723 ENSG00000228063 OTTHUMG00000041228 NR_038845 LYPLAL1-AS1 HGNC:50560 +HGNC:25074 LYRM1 LYR motif containing 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 A211C6.1 LYR motif containing 635 2006-08-15 2016-10-05 57149 ENSG00000102897 OTTHUMG00000131554 uc010bwj.5 NM_020424 CCDS10593 O43325 10493829 MGI:1921169 RGD:1563498 614709 HGNC:25074 "ENST00000567954.6|NM_001128302.3" +HGNC:25229 LYRM2 LYR motif containing 2 protein-coding gene gene with protein product Approved 6q15 06q15 DJ122O8.2 LYR motif containing 635 2006-08-15 2014-11-19 57226 ENSG00000083099 OTTHUMG00000015203 uc003pnm.4 BC009782 NM_020466 CCDS5023 Q9NU23 12477932 MGI:1917573 RGD:1597334 HGNC:25229 "ENST00000523377.2|NM_020466.5" +HGNC:21365 LYRM4 LYR motif containing 4 protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "CGI-203|ISD11" C6orf149 chromosome 6 open reading frame 149 "LYR motif containing|MicroRNA protein coding host genes|Mitochondrial iron-sulfur assembly components" "635|1691|1853" 2003-06-10 2006-09-19 2006-09-19 2016-10-03 57128 ENSG00000214113 OTTHUMG00000014173 uc003mwp.5 AF258559 NM_020408 "CCDS4493|CCDS83061|CCDS54962|CCDS54961" Q9HD34 23814038 MGI:2683538 RGD:7672286 613311 400605 HGNC:21365 "ENST00000330636.9|NM_020408.6" HGNC:21365 +HGNC:52055 LYRM4-AS1 LYRM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.1 06p25.1 Antisense RNAs 1987 2015-10-15 2015-10-15 100129461 NR_126015 LYRM4-AS1 HGNC:52055 +HGNC:28072 LYRM7 LYR motif containing 7 protein-coding gene gene with protein product Approved 5q23.3-q31.1 05q23.3-q31.1 "FLJ20796|MZM1L" C5orf31 "chromosome 5 open reading frame 31|Lyrm7 homolog (mouse)" "LYR motif containing|Mitochondrial respiratory chain complex assembly factors" "635|645" 2006-08-15 2006-10-17 2012-10-23 2018-02-13 90624 ENSG00000186687 OTTHUMG00000128994 uc003kvg.2 BC047079 NM_181705 "CCDS78057|CCDS4148" Q5U5X0 23168492 MGI:1922780 RGD:1596391 615831 377496 HGNC:28072 "ENST00000379380.9|NM_181705.4" HGNC:28072 +HGNC:27314 LYRM9 LYR motif containing 9 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 HSD24 C17orf108 chromosome 17 open reading frame 108 LYR motif containing 635 2009-09-30 2012-10-23 2012-10-23 2015-08-25 201229 ENSG00000232859 OTTHUMG00000132829 uc002gzx.4 BC018092 NM_001076680 CCDS45631 A8MSI8 12477932 MGI:1913524 RGD:1562012 HGNC:27314 "ENST00000379102.8|NM_001076680.3" +HGNC:32070 LYSMD1 LysM domain containing 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "SB145|MGC35223|RP11-68I18.5" LysM, putative peptidoglycan-binding, domain containing 1 2005-07-15 2016-01-22 2016-10-05 388695 ENSG00000163155 OTTHUMG00000012260 uc001ewy.4 BX647911 NM_212551 "CCDS44218|CCDS986" Q96S90 12477932 MGI:1919409 RGD:1561865 HGNC:32070 "ENST00000368908.10|NM_212551.5" +HGNC:28571 LYSMD2 LysM domain containing 2 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 MGC35274 LysM, putative peptidoglycan-binding, domain containing 2 2005-07-15 2016-01-22 2016-01-22 256586 ENSG00000140280 OTTHUMG00000131804 uc002abi.4 AY125955 NM_153374 "CCDS10143|CCDS45259" Q8IV50 12477932 MGI:1917332 RGD:1304585 HGNC:28571 "ENST00000267838.7|NM_153374.3" +HGNC:26969 LYSMD3 LysM domain containing 3 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 FLJ13542 LysM, putative peptidoglycan-binding, domain containing 3 2005-07-15 2016-01-22 2018-11-16 116068 ENSG00000176018 OTTHUMG00000162667 uc003kjr.5 BX537972 NM_198273 "CCDS43338|CCDS68911" Q7Z3D4 29496999 MGI:1915906 RGD:1308805 HGNC:26969 "ENST00000315948.11|NM_198273.2" +HGNC:26571 LYSMD4 LysM domain containing 4 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 FLJ33008 LysM, putative peptidoglycan-binding, domain containing 4 2005-10-24 2016-01-22 2016-01-22 145748 ENSG00000183060 OTTHUMG00000149853 uc002bvl.5 BC041097 NM_152449 "CCDS66877|CCDS73788|CCDS10381|CCDS66876" Q5XG99 12477932 MGI:1922349 RGD:1592887 HGNC:26571 "ENST00000684762.1|NM_001284417.2" +HGNC:1968 LYST lysosomal trafficking regulator protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "CHS|Mauve" CHS1 Chediak-Higashi syndrome 1 "WD repeat domain containing|BEACH domain containing |MicroRNA protein coding host genes" "362|1230|1691" 1996-10-31 2004-12-10 2004-12-09 2021-05-26 1130 ENSG00000143669 OTTHUMG00000040527 uc001hxj.4 U70064 NM_000081 CCDS31062 Q99698 "8717042|8896560" MGI:107448 RGD:621837 "Albinism Database|http://albinismdb.med.umn.edu/|LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)|http://structure.bmc.lu.se/idbase/LYSTbase/|Mutations of the Chediak Higashi Syndrome|http://www.retina-international.org/files/sci-news/chsmut.htm|LRG_143|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_143.xml" 606897 123318 HGNC:1968 "ENST00000389793.7|NM_000081.4" HGNC:1968 +HGNC:41320 LYST-AS1 LYST antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.3 01q42.3 LYST-IT2 LYST intronic transcript 2 (non-protein coding) Antisense RNAs 1987 2011-06-03 2012-11-21 2012-11-21 2014-11-18 100874266 ENSG00000229463 OTTHUMG00000041434 uc057qor.1 LYST-AS1 +HGNC:14687 LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 LYVE-1 XLKD1 extracellular link domain containing 1 2001-03-21 2007-06-26 2007-06-26 2015-07-22 10894 ENSG00000133800 OTTHUMG00000165713 uc001miv.3 AF118108 NM_016164 CCDS7804 Q9Y5Y7 "10037799|12554094" MGI:2136348 RGD:1310864 605702 HGNC:14687 "ENST00000256178.8|NM_006691.4" +HGNC:6740 LYZ lysozyme protein-coding gene gene with protein product Approved 12q15 12q15 renal amyloidosis lysozyme (renal amyloidosis) Lysozymes, c-type 1174 1989-05-25 2010-04-29 2021-05-26 4069 ENSG00000090382 OTTHUMG00000169342 uc001suw.3 X14008 NM_000239 CCDS8989 P61626 "8464497|2546758" "MGI:96902|MGI:96897|MGI:1924647" RGD:3026 LRG_768|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_768.xml 153450 123322 3.2.1.17 HGNC:6740 "ENST00000261267.7|NM_000239.3" HGNC:6740 +HGNC:30502 LYZL1 lysozyme like 1 protein-coding gene gene with protein product Approved 10p12.1-p11.23 10p12.1-p11.23 "MGC33408|LYC2" lysozyme-like 1 Lysozymes, c-type 1174 2004-05-27 2015-12-18 2018-02-13 84569 ENSG00000120563 OTTHUMG00000017880 uc001iul.4 NM_032517 CCDS31174 Q6UWQ5 12477932 MGI:1914578 RGD:1559869 3.2.1.1 HGNC:30502 "ENST00000649382.2|NM_032517.6" +HGNC:29613 LYZL2 lysozyme like 2 protein-coding gene gene with protein product Approved 10p11.23 10p11.23 lysozyme-like 2 Lysozymes, c-type 1174 2004-05-27 2015-12-18 2015-12-18 119180 ENSG00000151033 OTTHUMG00000017898 uc001ivk.4 AF139543 NM_183058 CCDS7167 Q7Z4W2 MGI:1914578 612748 HGNC:29613 "ENST00000647634.2|NM_183058.3" +HGNC:28387 LYZL4 lysozyme like 4 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "MGC26768|LYC4" lysozyme-like 4 Lysozymes, c-type 1174 2004-08-02 2015-12-18 2016-10-05 131375 ENSG00000157093 OTTHUMG00000131793 uc003cle.4 "BC016747|AF326749" NM_144634 CCDS2697 Q96KX0 16014814 MGI:1916282 RGD:1308401 612750 HGNC:28387 "ENST00000287748.8|NM_144634.4" +HGNC:29614 LYZL6 lysozyme like 6 protein-coding gene gene with protein product Approved 17q12 17q12 "LYC1|PRO1485|TKAL754" lysozyme-like 6 Lysozymes, c-type 1174 2004-08-02 2015-12-18 2015-12-18 57151 ENSG00000275722 OTTHUMG00000188400 uc060ees.1 "AF088219|AY742214" NM_020426 CCDS11302 O75951 10213461 MGI:1916694 RGD:1306968 612751 HGNC:29614 "ENST00000615905.5|NM_020426.4" +HGNC:17497 LZIC leucine zipper and CTNNBIP1 domain containing protein-coding gene gene with protein product Approved 1p36.22 01p36.22 MGC15436 2002-03-06 2014-11-18 84328 ENSG00000162441 OTTHUMG00000001804 uc001aqo.4 AB060688 NM_032368 CCDS107 Q8WZA0 11712074 MGI:1916401 RGD:1309253 610458 HGNC:17497 "ENST00000377223.6|NM_032368.5" +HGNC:6741 LZTFL1 leucine zipper transcription factor like 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 BBS17 leucine zipper transcription factor-like 1 2000-06-16 2015-11-13 2021-05-26 54585 ENSG00000163818 OTTHUMG00000133452 uc003cox.3 AJ297351 NM_020347 "CCDS63609|CCDS2731|CCDS63608" Q9NQ48 "11352561|22510444" MGI:1934860 RGD:1306628 606568 303711 HGNC:6741 "ENST00000296135.11|NM_020347.4" HGNC:6741 +HGNC:6742 LZTR1 leucine zipper like transcription regulator 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "LZTR-1|BTBD29" leucine-zipper-like transcriptional regulator 1 BTB domain containing 861 1999-10-19 2016-07-04 2021-05-26 8216 ENSG00000099949 OTTHUMG00000150878 uc002zto.4 D38496 NM_006767 CCDS33606 Q8N653 "7633402|16356934" MGI:1914113 RGD:1309100 LRG_989|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_989.xml LZTR1 600574 369810 HGNC:6742 "ENST00000646124.2|NM_006767.4" HGNC:6742 +HGNC:13861 LZTS1 leucine zipper tumor suppressor 1 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 FEZ1 F37/Esophageal cancer-related gene-coding leucine-zipper motif leucine zipper, putative tumor suppressor 1 Leucine zipper tumor suppressor family 1314 2001-02-27 2016-07-08 2016-10-05 11178 ENSG00000061337 OTTHUMG00000097027 uc064kuf.1 AF123659 NM_021020 CCDS6015 Q9Y250 "10097140|17349584" MGI:2684762 RGD:708565 606551 HGNC:13861 "ENST00000381569.5|NM_021020.5" +HGNC:43630 LZTS1-AS1 LZTS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 LZTS1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-06 2012-08-15 2012-10-12 100874051 ENSG00000253733 OTTHUMG00000163745 uc022aso.2 NR_047509 LZTS1-AS1 HGNC:43630 +HGNC:29381 LZTS2 leucine zipper tumor suppressor 2 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "KIAA1813|LAPSER1" leucine zipper, putative tumor suppressor 2 Leucine zipper tumor suppressor family 1314 2004-03-18 2016-07-08 2018-11-16 84445 ENSG00000107816 OTTHUMG00000018914 uc001ksj.4 AB058716 NM_032429 CCDS7507 Q9BRK4 "11347906|11709705|18490357" MGI:2385095 RGD:1359249 610454 HGNC:29381 +HGNC:30139 LZTS3 leucine zipper tumor suppressor family member 3 protein-coding gene gene with protein product Approved 20p13 20p13 "ProSAPiP1|KIAA0552" ProSAP/Shank-interacting protein 1 Leucine zipper tumor suppressor family 1314 2016-07-08 2016-07-08 2016-07-08 9762 ENSG00000088899 OTTHUMG00000031735 NM_014731 CCDS63218 O60299 "16012743|16522626" MGI:2656976 RGD:631327 610484 HGNC:30139 "ENST00000337576.7|NM_001365618.1" +HGNC:25183 M1AP meiosis 1 associated protein protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "D6Mm5e|SPATA37" "meiosis 1 arresting protein|spermatogenesis associated 37" C2orf65 chromosome 2 open reading frame 65 2007-12-07 2013-01-16 2013-02-05 2014-11-19 130951 ENSG00000159374 OTTHUMG00000152918 uc002smy.3 NM_138804 "CCDS62941|CCDS33229" Q8TC57 "16881047|23269666" MGI:1315200 RGD:1563842 619098 HGNC:25183 "ENST00000421985.2|NM_001321739.2" +HGNC:6752 M6PR mannose-6-phosphate receptor, cation dependent protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CD-MPR|CD-M6PR" mannose-6-phosphate receptor (cation dependent) MRH domain containing 1233 1989-06-30 2016-03-10 2016-03-10 4074 ENSG00000003056 OTTHUMG00000168276 uc001qvf.4 NM_001207024 "CCDS8598|CCDS73440" P20645 MGI:96904 RGD:1359355 154540 HGNC:6752 "ENST00000000412.8|NM_002355.4" +HGNC:55051 M6PRP1 M6PR pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 100131200 ENSG00000228042 NG_022689 +HGNC:6757 MAB21L1 mab-21 like 1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 CAGR1 "mab-21 (C. elegans)-like 1|mab-21-like 1 (C. elegans)" MAB21 family 1882 1996-08-16 2016-04-06 2016-04-06 4081 ENSG00000180660 OTTHUMG00000016723 uc032aca.2 BC028170 NM_005584 CCDS9353 Q13394 8733127 MGI:1333773 RGD:1589984 601280 HGNC:6757 "ENST00000379919.6|NM_005584.5" HGNC:6757 +HGNC:6758 MAB21L2 mab-21 like 2 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "mab-21 (C. elegans)-like 2|mab-21-like 2 (C. elegans)" MAB21 family 1882 1999-07-06 2016-04-06 2021-05-26 10586 ENSG00000181541 OTTHUMG00000161442 uc003ilw.4 AF155219 NM_006439 CCDS3774 Q9Y586 MGI:1346022 RGD:1595520 604357 440122 HGNC:6758 "ENST00000317605.6|NM_006439.5" HGNC:6758 +HGNC:26787 MAB21L3 mab-21 like 3 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 FLJ38716 C1orf161 "chromosome 1 open reading frame 161|mab-21-like 3 (C. elegans)" MAB21 family 1882 2005-07-15 2011-02-23 2016-04-06 2016-04-06 126868 ENSG00000173212 OTTHUMG00000012110 uc001egc.1 AK096035 NM_152367 CCDS886 Q8N8X9 14702039 MGI:2446273 RGD:1308694 HGNC:26787 "ENST00000369500.4|NM_152367.3" +HGNC:26216 MAB21L4 mab-21 like 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 FLJ22671 C2orf54 chromosome 2 open reading frame 54 MAB21 family 1882 2007-05-02 2018-06-29 2018-06-29 2018-06-29 79919 ENSG00000172478 OTTHUMG00000151906 uc002wae.5 "AK026324|AK056601" "NM_024861|NM_001085437" "CCDS42839|CCDS63187|CCDS42840" Q08AI8 MGI:1919124 RGD:1563692 HGNC:26216 "ENST00000388934.5|NM_001085437.3" +HGNC:30215 MACC1 MET transcriptional regulator MACC1 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "7A5|SH3BP4L" metastasis associated in colon cancer 1 2008-10-14 2018-08-15 2018-08-15 346389 ENSG00000183742 OTTHUMG00000128415 uc003sus.5 NM_182762 CCDS5369 Q6ZN28 25738887 MGI:2685113 RGD:1309838 612646 HGNC:30215 "ENST00000400331.10|NM_182762.4" +HGNC:41257 MACC1-AS1 MACC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p21.1 07p21.1 MACC1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-23 2012-08-15 2020-01-10 100874041 ENSG00000228598 OTTHUMG00000152534 uc031swo.1 "AI125264|BX114725" NR_046756 "31391063|31822653" MACC1-AS1 HGNC:41257 +HGNC:55702 MACC1-DT MACC1 divergent transcript non-coding RNA RNA, long non-coding Approved 7p21.1 07p21.1 Divergent transcripts 1990 2021-07-05 2021-07-05 100506098 ENSG00000233834 NR_134567 +HGNC:13664 MACF1 microtubule actin crosslinking factor 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "KIAA0465|ACF7|ABP620|KIAA1251|MACF|FLJ45612|FLJ46776|Lnc-PMIF" "actin cross-linking factor|620 kDa actin binding protein|macrophin 1|trabeculin-alpha|actin cross-linking family protein 7|postulated migration inhibitory factor" KIAA0754 KIAA0754 "EF-hand domain containing|Plakins" "863|939" 2002-01-09 2019-02-11 2021-11-18 23499 ENSG00000127603 OTTHUMG00000007754 uc057ezw.1 AB007934 NM_033044 CCDS435 Q9UPN3 "7635207|10529403" MGI:108559 RGD:1306057 608271 HGNC:13664 "ENST00000564288.6|NM_001394062.1" HGNC:13664 +HGNC:25052 MACIR macrophage immunometabolism regulator protein-coding gene gene with protein product Approved 5q21.1 05q21.1 FLJ25291 UNC119-binding protein C5orf30 chromosome 5 open reading frame 30 2006-08-15 2019-10-31 2019-10-31 2019-10-31 90355 ENSG00000181751 OTTHUMG00000128738 uc003kog.2 NM_033211 CCDS4095 Q96GV9 "22085962|26316022" MGI:1277184 RGD:1562136 616608 HGNC:25052 "ENST00000319933.7|NM_033211.4" +HGNC:25572 MACO1 macoilin 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ10747 TMEM57 "transmembrane protein 57|macoilin" 2005-07-22 2017-10-30 2017-10-30 2017-10-30 55219 ENSG00000204178 OTTHUMG00000003473 uc001bkk.5 AK001609 NM_018202 "CCDS30638|CCDS60034" Q8N5G2 "12459264|15255972|21437263" MGI:1913396 RGD:1561685 610301 HGNC:25572 "ENST00000374343.5|NM_018202.6" +HGNC:53963 MACORIS macrophage enriched lincRNA repressor of IFN-gamma signaling non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 macrophage-enriched obesity-associated lincRNA serving as a repressor of IFN-γ signaling Long non-coding RNAs with non-systematic symbols 1992 2018-09-06 2020-05-04 101929951 ENSG00000237797 OTTHUMG00000017910 XR_930805 29133519 HGNC:53963 +HGNC:29598 MACROD1 mono-ADP ribosylhydrolase 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 LRP16 MACRO domain containing 1 Macro domain containing 1693 2007-07-24 2019-01-10 2019-01-10 28992 ENSG00000133315 OTTHUMG00000167843 uc001nyh.4 AF202922 NM_014067 CCDS8056 Q9BQ69 "15691879|23474714" MGI:2147583 RGD:628701 610400 HGNC:29598 "ENST00000255681.7|NM_014067.4" +HGNC:16126 MACROD2 mono-ADP ribosylhydrolase 2 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 dJ631M13.5 O-acetyl-ADP-ribose deacetylase MACROD2 C20orf133 "chromosome 20 open reading frame 133|MACRO domain containing 2" Macro domain containing 1693 2001-07-17 2007-07-24 2019-01-10 2019-01-10 140733 ENSG00000172264 OTTHUMG00000031919 uc002wot.4 BC101218 NM_080676 "CCDS13120|CCDS33443" A1Z1Q3 23474714 MGI:1920149 RGD:1591318 611567 470622 HGNC:16126 "ENST00000684519.1|NM_001351661.2" +HGNC:37193 MACROD2-AS1 MACROD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.1 20p12.1 BA318C17.1 NCRNA00186 "non-protein coding RNA 186|MACROD2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-08-18 2011-04-28 2012-08-15 2014-03-12 100379174 ENSG00000235914 OTTHUMG00000031920 uc002woy.6 BX417920 NR_037841 MACROD2-AS1 HGNC:37193 +HGNC:16201 MACROD2-IT1 MACROD2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 20p12.1 20p12.1 bA467D7.4 "C20orf68|NCRNA00227" "chromosome 20 open reading frame 68|non-protein coding RNA 227|MACROD2 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2001-07-17 2011-08-11 2015-02-25 2015-02-25 140848 ENSG00000227927 OTTHUMG00000031917 uc032pbl.1 AI026654 NR_104193 MACROD2-IT1 HGNC:16201 +HGNC:4740 MACROH2A1 macroH2A.1 histone protein-coding gene gene with protein product Approved 5q31.1 05q31.1 macroH2A1.2 H2AFY "H2A histone family, member Y|H2A histone family member Y" "Macro domain containing|H2A histones" "1693|1936" 1999-07-22 2019-07-23 2019-07-23 2019-07-23 9555 ENSG00000113648 OTTHUMG00000129141 uc003lam.2 AF054174 NM_004893 "CCDS4184|CCDS4183|CCDS4185" O75367 "9653160|9714746" MGI:1349392 RGD:621462 610054 HGNC:4740 "ENST00000511689.6|NM_138610.3" HGNC:4740 +HGNC:14453 MACROH2A2 macroH2A.2 histone protein-coding gene gene with protein product Approved 10q22.1 10q22.1 H2AFY2 "H2A histone family, member Y2|H2A histone family member Y2" "Macro domain containing|H2A histones" "1693|1936" 2001-04-27 2019-07-23 2019-07-23 2020-05-04 55506 ENSG00000099284 OTTHUMG00000018396 uc001jqm.4 AF336304 NM_018649 CCDS7296 Q9P0M6 "11331621|11262398" MGI:3037658 RGD:1561371 616141 HGNC:14453 "ENST00000373255.9|NM_018649.3" +HGNC:6762 MAD1L1 mitotic arrest deficient 1 like 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "HsMAD1|TXBP181|MAD1|PIG9|TP53I9" "MAD1 (mitotic arrest deficient, yeast, homolog)-like 1|MAD1 mitotic arrest deficient-like 1 (yeast)|MAD1 mitotic arrest deficient like 1" MicroRNA protein coding host genes 1691 1998-09-07 2017-09-12 2017-09-12 8379 ENSG00000002822 OTTHUMG00000151493 uc003slg.2 U33822 NM_003550 "CCDS78201|CCDS43539" Q9Y6D9 "10049595|9546394" MGI:1341857 RGD:1596881 602686 HGNC:6762 "ENST00000265854.12|NM_001013836.2" +HGNC:6763 MAD2L1 mitotic arrest deficient 2 like 1 protein-coding gene gene with protein product Approved 4q27 04q27 "MAD2|HSMAD2" MAD2 (mitotic arrest deficient, yeast, homolog)-like 1 1996-11-14 2017-02-21 2017-02-21 4085 ENSG00000164109 OTTHUMG00000132967 uc003idl.3 U65410 NM_002358 CCDS3715 Q13257 "8824189|9345911" MGI:1860374 RGD:1310889 601467 HGNC:6763 "ENST00000296509.11|NM_002358.4" +HGNC:55546 MAD2L1-DT MAD2L1 divergent transcript non-coding RNA RNA, long non-coding Approved 4q27 04q27 Divergent transcripts 1990 2021-03-24 2021-03-24 121009649 ENSG00000250938 XR_005976914 +HGNC:21059 MAD2L1BP MAD2L1 binding protein protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "CMT2|KIAA0110|dJ261G23.1" 2003-06-23 2015-08-25 9587 ENSG00000124688 OTTHUMG00000014747 uc003ovv.4 BC002904 NM_014628 "CCDS4904|CCDS47431" Q15013 "7788527|12456649" MGI:1913841 RGD:1309175 618136 HGNC:21059 "ENST00000372171.5|NM_014628.3" +HGNC:20019 MAD2L1P1 mitotic arrest deficient 2 like 1 pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 MAD2L1P MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene 2003-01-13 2010-02-25 2017-02-21 2020-04-07 326596 ENSG00000258445 OTTHUMG00000171291 NG_002592 PGOHUM00000292690 HGNC:20019 +HGNC:6764 MAD2L2 mitotic arrest deficient 2 like 2 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "MAD2B|REV7|POLZ2|FANCV" "mitotic arrest deficient homolog-like 2|polymerase (DNA-directed), zeta 2, accessory subunit" MAD2 (mitotic arrest deficient, yeast, homolog)-like 2 "DNA polymerases|FA complementation groups" "535|548" 1999-06-22 2017-02-21 2020-11-17 10459 ENSG00000116670 OTTHUMG00000002231 uc001asq.5 AF139365 NM_006341 CCDS134 Q9UI95 "10366450|27500492" MGI:1919140 RGD:1307499 Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi 604094 477480 HGNC:6764 "ENST00000376692.9|NM_006341.4" HGNC:6764 +HGNC:6765 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MACAM1 mucosal addressin cell adhesion molecule-1 "Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "594|1410" 2000-02-11 2014-11-19 8174 ENSG00000099866 OTTHUMG00000180548 uc002los.5 U43628 NM_130760 "CCDS12028|CCDS12029" Q13477 "9162097|8609404" MGI:103579 RGD:3029 102670 ligandId:9339 HGNC:6765 "ENST00000215637.8|NM_130760.3" +HGNC:55315 MADCAM1-AS1 MADCAM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Antisense RNAs 1987 2020-10-19 2020-10-19 105372232 ENSG00000266933 XR_007067073 +HGNC:6766 MADD MAP kinase activating death domain protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DENN|KIAA0358|RAB3GEP" MAP-kinase activating death domain DENN domain containing 504 1999-12-17 2016-01-19 2016-01-19 8567 ENSG00000110514 OTTHUMG00000150350 uc001ner.2 AB002356 NM_001135943 "CCDS44590|CCDS7930|CCDS7931|CCDS7932|CCDS41642|CCDS44586|CCDS44587|CCDS44588|CCDS44589" Q8WXG6 "9115275|9796103" MGI:2444672 RGD:619922 603584 HGNC:6766 HGNC:6766 +HGNC:40354 MADD-AS1 MADD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Antisense RNAs 1987 2019-08-16 2019-08-16 101928943 ENSG00000256746 OTTHUMG00000167884 NR_120568 HGNC:40354 +HGNC:13731 MAEA macrophage erythroblast attacher, E3 ubiquitin ligase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "EMP|GID9|p44EMLP|HLC-10" GID complex subunit 9, FYV10 homolog (S. cerevisiae) CTLH complex 1561 2000-11-07 2020-03-13 2020-03-13 10296 ENSG00000090316 OTTHUMG00000160169 uc003gda.4 AF084928 NM_005882 "CCDS77888|CCDS33937|CCDS75090|CCDS33936|CCDS77887" Q7L5Y9 9763581 MGI:1891748 RGD:1309877 606801 HGNC:13731 "ENST00000303400.9|NM_001017405.3" +HGNC:25929 MAEL maelstrom spermatogenic transposon silencer protein-coding gene gene with protein product Approved 1q24.1 01q24.1 "FLJ14904|CT128|SPATA35" "cancer/testis antigen 128|spermatogenesis associated 35" maelstrom homolog (Drosophila) 2005-06-30 2012-12-18 2014-11-19 84944 ENSG00000143194 OTTHUMG00000034432 uc001gdy.3 "AK027810|DQ076156" NM_032858 "CCDS72975|CCDS65712|CCDS1257" Q96JY0 "19693694|18694567" MGI:2138453 RGD:1309333 611368 HGNC:25929 "ENST00000367872.9|NM_032858.3" +HGNC:6776 MAF MAF bZIP transcription factor protein-coding gene gene with protein product Approved 16q23.2 16q23.2 c-MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog Basic leucine zipper proteins 506 1991-08-01 2016-05-10 2021-05-26 4094 ENSG00000178573 OTTHUMG00000137621 uc002ffm.4 NM_001031804 "CCDS10928|CCDS42198" O75444 14998484 MGI:96909 RGD:3034 MAF 177075 140567 HGNC:6776 "ENST00000326043.5|NM_005360.5" HGNC:6776 +HGNC:24966 MAF1 MAF1 homolog, negative regulator of RNA polymerase III protein-coding gene gene with protein product Approved 8q24.3 08q24.3 DKFZp586G1123 MAF1 homolog (S. cerevisiae) 2005-05-13 2015-07-02 2015-07-02 84232 ENSG00000179632 OTTHUMG00000165244 uc003zbc.2 NM_032272 CCDS6416 Q9H063 "11230166|11438659" MGI:1916127 RGD:1359315 610210 HGNC:24966 "ENST00000322428.10|NM_032272.5" +HGNC:23145 MAFA MAF bZIP transcription factor A protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "RIPE3b1|hMafA" RIPE3b1 activator v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A Basic leucine zipper proteins 506 2004-01-30 2016-05-10 2022-02-21 389692 ENSG00000182759 OTTHUMG00000165037 uc003yyc.3 AY083269 NM_201589 CCDS34955 Q8NHW3 12011435 MGI:2673307 RGD:1562627 610303 HGNC:23145 "ENST00000333480.3|NM_201589.4" +HGNC:51203 MAFA-AS1 MAFA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 "RP11-909N17.3|TCONS_00014882" Antisense RNAs 1987 2014-08-07 2014-08-07 104326051 ENSG00000254338 OTTHUMG00000165017 "BE503758|BF448373|BX114021" NR_126358 25089627 MAFA-AS1 HGNC:51203 +HGNC:6408 MAFB MAF bZIP transcription factor B protein-coding gene gene with protein product Approved 20q12 20q12 KRML "Kreisler (mouse) maf-related leucine zipper homolog|v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B" Basic leucine zipper proteins 506 1999-05-05 2001-11-30 2016-05-10 2021-05-26 9935 ENSG00000204103 OTTHUMG00000033052 uc002xji.4 AF134157 NM_005461 CCDS13311 Q9Y5Q3 10444328 MGI:104555 RGD:2982 MAFB 608968 293867 HGNC:6408 "ENST00000373313.3|NM_005461.5" HGNC:6408 +HGNC:6780 MAFF MAF bZIP transcription factor F protein-coding gene gene with protein product Approved 22q13.1 22q13.1 hMafF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F Basic leucine zipper proteins 506 1999-10-29 2016-05-10 2016-05-10 23764 ENSG00000185022 OTTHUMG00000151163 uc003avc.4 AJ010857 NM_001161572 "CCDS13968|CCDS54528" Q9ULX9 10591208 MGI:96910 RGD:1309531 604877 HGNC:6780 "ENST00000338483.7|NM_012323.4" +HGNC:6781 MAFG MAF bZIP transcription factor G protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC13090|MGC20149" "transcription factor MafG|basic leucine zipper transcription factor MafG" v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G Basic leucine zipper proteins 506 1997-07-22 2016-05-10 2016-05-10 4097 ENSG00000197063 OTTHUMG00000177958 uc002kcn.4 AF059195 NM_002359 CCDS11793 O15525 9763667 MGI:96911 RGD:619953 602020 HGNC:6781 "ENST00000357736.9|NM_002359.4" +HGNC:31102 MAFIP MAFF interacting protein (pseudogene) pseudogene pseudogene Approved 14 unplaced 14 unplaced "FLJ35473|FLJ00219|FLJ39633|MIP|pp5644|TEKT4P4" tektin 4 pseudogene 4 MAFF interacting protein 2009-02-18 2012-03-26 2017-09-21 727764 ENSG00000274847 OTTHUMG00000188065 "AK074146|AF289559" NR_046439 Q8WZ33 "16549056|15881666" +HGNC:6782 MAFK MAF bZIP transcription factor K protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "P18|NFE2U" "basic-leucine zipper transcription factor MafK|erythroid transcription factor NF-E2 p18 subunit|nuclear factor erythroid-2, ubiquitous (p18)" v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K Basic leucine zipper proteins 506 1998-06-24 2016-05-10 2016-10-05 7975 ENSG00000198517 OTTHUMG00000151453 uc003skr.4 AF059194 NM_002360 CCDS5325 O60675 9763667 MGI:99951 RGD:628633 600197 HGNC:6782 "ENST00000343242.9|NM_002360.4" +HGNC:51525 MAFTRR MAF transcriptional regulator RNA non-coding RNA RNA, long non-coding Approved 16q23.2 16q23.2 linc-MAF-4 Long non-coding RNAs with non-systematic symbols 1992 2015-02-18 2015-02-18 102467146 ENSG00000261390 OTTHUMG00000176976 NR_104663 25621826 616264 MAFTRR HGNC:51525 +HGNC:6783 MAG myelin associated glycoprotein protein-coding gene gene with protein product Approved 19q13.1 19q13.1 "SIGLEC4A|SIGLEC-4A|S-MAG" sialic acid binding Ig-like lectin 4A GMA "C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "592|593|745" 2001-06-22 2014-11-18 4099 ENSG00000105695 OTTHUMG00000183296 uc002nyy.3 M29273 NM_080600 "CCDS12456|CCDS56090|CCDS12455" P20916 "2476987|8432525" MGI:96912 RGD:3035 159460 460860 HGNC:6783 "ENST00000392213.8|NM_002361.4" HGNC:6783 +HGNC:6796 MAGEA1 MAGE family member A1 protein-coding gene gene with protein product Approved Xq28 Xq28 "MGC9326|CT1.1" "melanoma-associated antigen 1|melanoma-associated antigen MZ2-E|melanoma antigen MAGE-1|melanoma antigen family A 1|cancer/testis antigen family 1, member 1" MAGE1 "melanoma antigen family A, 1 (directs expression of antigen MZ2-E)|melanoma antigen family A1" MAGE family 1136 1994-04-04 2015-11-13 2020-04-02 4100 ENSG00000198681 OTTHUMG00000024192 uc004fhf.3 NM_004988 CCDS76051 P43355 "1840703|25590999" MGI:3588211 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEA1 300016 HGNC:6796 "ENST00000356661.7|NM_004988.5" +HGNC:6800 MAGEA2 MAGE family member A2 protein-coding gene gene with protein product Approved Xq28 Xq28 "MAGEA2A|CT1.2" cancer/testis antigen family 1, member 2 MAGE2 melanoma antigen family A2 MAGE family 1136 1994-04-04 2015-11-13 2015-11-13 4101 ENSG00000268606 OTTHUMG00000188622 uc010ntr.2 BC063681 NM_005361 CCDS76049 P43356 "1840703|8575766" 300173 HGNC:6800 "ENST00000684311.1|NM_001386130.2" +HGNC:19340 MAGEA2B MAGE family member A2B protein-coding gene gene with protein product Approved Xq28 Xq28 "MAGE2|MGC16973|MAGEA2" melanoma antigen family A2B MAGE family 1136 2004-06-08 2015-11-13 2020-05-04 266740 ENSG00000183305 OTTHUMG00000022645 uc010ntm.3 BC013098 NM_153488 CCDS76046 P43356 8575766 300549 HGNC:19340 "ENST00000682532.1|NM_001386132.1" +HGNC:6801 MAGEA3 MAGE family member A3 protein-coding gene gene with protein product Approved Xq28 Xq28 "HYPD|HIP8|MGC14613|CT1.3" "melanoma-associated antigen 3|antigen MZ2-D|MAGE-3 antigen|cancer/testis antigen family 1, member 3" MAGE3 melanoma antigen family A3 MAGE family 1136 1994-04-04 2015-11-13 2020-04-02 4102 ENSG00000221867 OTTHUMG00000022640 uc033faf.1 NM_005362 CCDS76045 P43357 "1840703|8575766" MGI:3588211 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEA3 300174 objectId:3185 HGNC:6801 "ENST00000370278.4|NM_005362.4" +HGNC:6802 MAGEA4 MAGE family member A4 protein-coding gene gene with protein product Approved Xq28 Xq28 "MAGE4A|MAGE4B|MAGE-41|MAGE-X2|MGC21336|CT1.4" "melanoma-associated antigen 4|cancer/testis antigen family 1, member 4" MAGE4 melanoma antigen family A4 MAGE family 1136 1994-04-04 2015-11-13 2020-04-02 4103 ENSG00000147381 OTTHUMG00000024174 uc004ffa.3 NM_002362 CCDS14702 P43358 8575766 MGI:3588211 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEA4 300175 HGNC:6802 "ENST00000276344.6|NM_001011548.1" +HGNC:53860 MAGEA4-AS1 MAGEA4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 Antisense RNAs 1987 2018-04-27 2018-04-27 105373368 ENSG00000229967 NR_136578 HGNC:53860 +HGNC:6803 MAGEA5P MAGE family member A5, pseudogene pseudogene pseudogene Approved Xq28 Xq28 "MGC129526|CT1.5" "MAGE-5a antigen|MAGE-5b antigen|cancer/testis antigen family 1, member 5" "MAGE5|MAGEA5" "melanoma antigen family A5|MAGE family member A5" MAGE family 1136 1994-04-04 2021-03-08 2021-03-08 2021-03-08 4104 ENSG00000242520 OTTHUMG00000160288 NR_171383 P43359 "8575766|22869527" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEA5 300340 PGOHUM00000241601 HGNC:6803 +HGNC:6804 MAGEA6 MAGE family member A6 protein-coding gene gene with protein product Approved Xq28 Xq28 "CT1.6|MAGE3B|MAGE-3b" "MAGE-6 antigen|melanoma-associated antigen 6|melanoma antigen family A 6|cancer/testis antigen family 1, member 6" MAGE6 melanoma antigen family A6 MAGE family 1136 1994-04-04 2015-11-13 2017-05-12 4105 ENSG00000197172 OTTHUMG00000022642 uc033fao.2 NM_005363 CCDS76050 P43360 8575766 MGI:3588211 300176 HGNC:6804 "ENST00000329342.10|NM_005363.5" +HGNC:55139 MAGEA6-DT MAGEA6 divergent transcript non-coding RNA RNA, long non-coding Approved Xq28 Xq28 Divergent transcripts 1990 2020-07-15 2020-07-15 107985638 ENSG00000286051 XR_001755998 +HGNC:6805 MAGEA7P MAGE family member A7, pseudogene pseudogene pseudogene Approved Xq28 Xq28 "MAGE7|MAGEA7" melanoma antigen family A7, pseudogene MAGE family 1136 1994-04-04 2011-05-04 2015-11-13 2015-11-13 4106 ENSG00000224732 OTTHUMG00000022631 U10692 NG_001156 8575766 PGOHUM00000305386 HGNC:6805 +HGNC:6806 MAGEA8 MAGE family member A8 protein-coding gene gene with protein product Approved Xq28 Xq28 "MGC2182|CT1.8" "MAGE-8 antigen|cancer/testis antigen family 1, member 8" MAGE8 melanoma antigen family A8 MAGE family 1136 1994-04-04 2015-11-13 2020-04-02 4107 ENSG00000156009 OTTHUMG00000022635 uc022cgp.1 NM_005364 CCDS14692 P43361 8575766 MGI:3588211 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEA8 300341 HGNC:6806 "ENST00000286482.6|NM_005364.5" +HGNC:45093 MAGEA8-AS1 MAGEA8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 RP5-869M20.2 MAGEA8 antisense RNA 1 (head to head) Antisense RNAs 1987 2013-02-10 2013-02-13 2018-03-23 2018-03-23 101410537 ENSG00000230899 OTTHUMG00000022634 uc065bnz.1 CB961226 NR_102703 23223008 MAGEA8-AS1 HGNC:45093 +HGNC:6807 MAGEA9 MAGE family member A9 protein-coding gene gene with protein product Approved Xq28 Xq28 "MGC8421|CT1.9" "MAGE-9 antigen|melanoma-associated antigen 9|cancer/testis antigen family 1, member 9" MAGE9 melanoma antigen family A9 MAGE family 1136 1994-04-04 2015-11-13 2017-12-20 4108 ENSG00000123584 OTTHUMG00000022621 uc004fdv.3 NM_005365 CCDS14691 P43362 "8575766|28339631" RGD:1565494 300342 HGNC:6807 "ENST00000243314.5|NM_005365.5" +HGNC:31909 MAGEA9B MAGE family member A9B protein-coding gene gene with protein product Approved Xq28 Xq28 melanoma antigen family A9B MAGE family 1136 2006-07-04 2015-11-13 2020-04-20 728269 ENSG00000267978 OTTHUMG00000188533 uc004fdk.4 NM_001080790 CCDS35423 P43362 300764 HGNC:31909 "ENST00000595065.6|NM_001080790.1" +HGNC:6797 MAGEA10 MAGE family member A10 protein-coding gene gene with protein product Approved Xq28 Xq28 "MGC10599|CT1.10" "MAGE-10 antigen|melanoma-associated antigen 10|cancer/testis antigen family 1, member 10" MAGE10 melanoma antigen family A10 MAGE family 1136 1994-04-04 2015-11-13 2015-11-13 4109 ENSG00000124260 OTTHUMG00000024180 uc004ffk.4 NM_021048 CCDS14705 P43363 8575766 "MGI:1333793|MGI:1333827|MGI:1333832|MGI:1333834|MGI:1333837|MGI:1333838|MGI:1333839|MGI:1917946|MGI:1921529|MGI:3588211" RGD:1563693 300343 HGNC:6797 "ENST00000370323.9|NM_021048.5" +HGNC:6798 MAGEA11 MAGE family member A11 protein-coding gene gene with protein product Approved Xq28 Xq28 "MAGE-11|MAGEA-11|MGC10511|CT1.11" "MAGE-11 antigen|melanoma-associated antigen 11|cancer/testis antigen family 1, member 11" MAGE11 melanoma antigen family A11 MAGE family 1136 1994-04-04 2015-11-13 2020-04-02 4110 ENSG00000185247 OTTHUMG00000022633 uc004fdq.4 NM_005366 CCDS48180 P43364 8575766 "MGI:1922602|MGI:3588211" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEA11 300344 HGNC:6798 "ENST00000355220.6|NM_005366.5" +HGNC:6799 MAGEA12 MAGE family member A12 protein-coding gene gene with protein product Approved Xq28 Xq28 CT1.12 cancer/testis antigen family 1, member 12 MAGE12 melanoma antigen family A12 MAGE family 1136 1994-04-04 2015-11-13 2020-04-02 4111 ENSG00000213401 OTTHUMG00000022650 uc004fgc.3 NM_005367 CCDS76048 P43365 8575766 MGI:3588211 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEA12 300177 HGNC:6799 "ENST00000393869.8|NM_001166387.4" +HGNC:35154 MAGEA13P MAGE family member A13, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 LOC139363 melanoma antigen family A13, pseudogene MAGE family 1136 2008-10-15 2015-11-13 2020-08-06 139363 ENSG00000183981 OTTHUMG00000022527 XR_040398 A6NCF6 MGI:1922602 RGD:1359246 PGOHUM00000305357 HGNC:35154 +HGNC:6808 MAGEB1 MAGE family member B1 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 "MAGEL1|MAGE-Xp|DAM10|MGC9322|CT3.1" "DSS/AHC critical interval MAGE superfamily 10|cancer/testis antigen family 3, member 1" melanoma antigen family B1 MAGE family 1136 1997-08-15 2015-11-13 2020-04-02 4112 ENSG00000214107 OTTHUMG00000021322 uc004dcc.4 NM_002363 CCDS14222 P43366 "7761436|9441743" MGI:2148568 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB1 300097 HGNC:6808 "ENST00000397548.4|NM_177404.3" +HGNC:6809 MAGEB2 MAGE family member B2 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 "DAM6|MAGE-XP-2|MGC26438|CT3.2" "DSS/AHC critical interval MAGE superfamily 6|melanoma-associated antigen B2|cancer/testis antigen family 3, member 2" melanoma antigen family B2 MAGE family 1136 1997-08-15 2015-11-13 2020-04-02 4113 ENSG00000099399 OTTHUMG00000021319 uc004dbz.4 AF015766 NM_002364 CCDS14219 O15479 9441743 MGI:2148568 RGD:1560904 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB2 300098 HGNC:6809 "ENST00000378988.5|NM_002364.5" +HGNC:6810 MAGEB3 MAGE family member B3 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 CT3.5 cancer/testis antigen family 3, member 5 melanoma antigen family B3 MAGE family 1136 1997-08-15 2015-11-13 2020-04-02 4114 ENSG00000198798 OTTHUMG00000021320 uc004dca.3 AK057441 NM_002365 CCDS14220 O15480 9441743 RGD:1562343 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB3 300152 HGNC:6810 "ENST00000361644.4|NM_002365.5" +HGNC:6811 MAGEB4 MAGE family member B4 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 "MGC33144|CT3.6" "melanoma-associated antigen B4|cancer/testis antigen family 3, member 6" melanoma antigen family B4 MAGE family 1136 1997-08-15 2015-11-13 2020-04-02 4115 ENSG00000120289 OTTHUMG00000021321 uc004dcb.4 NM_002367 CCDS14221 O15481 9441743 MGI:2148568 RGD:1565746 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB4 300153 HGNC:6811 "ENST00000378982.4|NM_002367.4" +HGNC:23795 MAGEB5 MAGE family member B5 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 "MAGE-B5|CT3.3" cancer/testis antigen family 3, member 3 melanoma antigen family B5 MAGE family 1136 2003-12-10 2015-11-13 2020-04-02 347541 ENSG00000188408 OTTHUMG00000021288 uc031thc.1 AF333705 NM_001271752 CCDS65233 Q9BZ81 10861452 "MGI:2148169|MGI:3712084" RGD:1563078 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB5 300466 HGNC:23795 "ENST00000602297.1|NM_001271752.1" +HGNC:23796 MAGEB6 MAGE family member B6 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 "FLJ40242|MAGE-B6|MAGEB6A|CT3.4" cancer/testis antigen family 3, member 4 melanoma antigen family B6 MAGE family 1136 2003-12-10 2015-11-13 2020-04-02 158809 ENSG00000176746 OTTHUMG00000021285 uc004dbr.3 AF320514 NM_173523 CCDS14217 Q8N7X4 10861452 "MGI:105109|MGI:3643982" RGD:1565662 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB6 300467 HGNC:23796 "ENST00000379034.1|NM_173523.2" +HGNC:28824 MAGEB6B MAGE family member B6B other unknown Approved Xp21.3 Xp21.3 MAGEB6P1 "melanoma antigen family B, 6B|melanoma antigen family B, 6B pseudogene|melanoma antigen family B6 pseudogene 1|MAGE family member B6 pseudogene 1" 2004-08-09 2017-11-30 2017-11-30 2019-06-26 392433 ENSG00000232030 OTTHUMG00000021284 uc284raa.1 NG_008389 PGOHUM00000241672 HGNC:28824 +HGNC:25377 MAGEB10 MAGE family member B10 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 FLJ32965 melanoma antigen family B10 MAGE family 1136 2004-09-01 2015-11-13 2020-04-02 139422 ENSG00000177689 OTTHUMG00000046084 uc004dbw.3 NM_182506 CCDS35221 Q96LZ2 11454705 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB10 300761 HGNC:25377 "ENST00000356790.2|NM_182506.3" +HGNC:21188 MAGEB16 MAGE family member B16 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 "melanoma antigen family B, 16 (pseudogene)|melanoma antigen family B16" MAGE family 1136 2005-01-26 2015-11-13 2015-11-13 139604 ENSG00000189023 OTTHUMG00000021348 uc010ngt.1 NM_001099921 CCDS43927 A2A368 11454705 MGI:1919217 RGD:1562365 300762 HGNC:21188 +HGNC:17418 MAGEB17 MAGE family member B17 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "melanoma antigen family B, 17 (pseudogene)|melanoma antigen family B17" MAGE family 1136 2005-01-26 2015-11-13 2020-04-20 645864 ENSG00000182798 OTTHUMG00000021188 uc031tgu.2 NM_001277307 CCDS59524 A8MXT2 11454705 300763 HGNC:17418 "ENST00000400004.6|NM_001277307.2" +HGNC:28515 MAGEB18 MAGE family member B18 protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 MGC33889 melanoma antigen family B18 MAGE family 1136 2005-06-01 2015-11-13 2020-04-02 286514 ENSG00000176774 OTTHUMG00000021282 uc004dbq.3 AK057361 NM_173699 CCDS14216 Q96M61 MGI:3045344 RGD:1560369 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEB18 301064 HGNC:28515 "ENST00000325250.2|NM_173699.4" +HGNC:6812 MAGEC1 MAGE family member C1 protein-coding gene gene with protein product Approved Xq27.2 Xq27.2 "MAGE-C1|CT7|MGC39366|CT7.1" cancer/testis antigen family 7, member 1 melanoma antigen family C1 MAGE family 1136 1999-04-23 2015-11-13 2020-04-02 9947 ENSG00000155495 OTTHUMG00000022569 uc004fbt.4 AF064589 NM_005462 CCDS35417 O60732 "9485030|9618514" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEC1 300223 HGNC:6812 "ENST00000285879.5|NM_005462.5" +HGNC:13574 MAGEC2 MAGE family member C2 protein-coding gene gene with protein product Approved Xq27.2 Xq27.2 "CT10|MAGE-C2|HCA587" cancer/testis antigen 10 MAGEE1 "melanoma antigen, family E, 1, cancer/testis specific|melanoma antigen family C2" MAGE family 1136 2000-09-26 2004-06-09 2015-11-13 2020-04-02 51438 ENSG00000046774 OTTHUMG00000022574 uc004fbu.3 AF116195 NM_016249 CCDS14678 Q9UBF1 "10699956|20864041" RGD:1563272 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEC2 300468 HGNC:13574 "ENST00000247452.4|NM_016249.4" +HGNC:23798 MAGEC3 MAGE family member C3 protein-coding gene gene with protein product Approved Xq27.2 Xq27.2 "HCA2|MAGE-C3|CT7.2" cancer/testis antigen family 7, member 2 melanoma antigen family C3 MAGE family 1136 2003-12-10 2015-11-13 2020-04-02 139081 ENSG00000165509 OTTHUMG00000022570 uc011mwp.2 AF490508 NM_138702 "CCDS14677|CCDS14676" Q8TD91 10861452 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEC3 300469 HGNC:23798 "ENST00000298296.1|NM_138702.1" +HGNC:6813 MAGED1 MAGE family member D1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "NRAGE|DLXIN-1" melanoma antigen family D1 MAGE family 1136 1999-04-14 2015-11-13 2020-04-02 9500 ENSG00000179222 OTTHUMG00000021540 uc004dpm.5 AF124440 NM_001005332 "CCDS14337|CCDS35279" Q9Y5V3 10409427 MGI:1930187 RGD:70898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGED1 300224 HGNC:6813 "ENST00000326587.12|NM_006986.4" +HGNC:16353 MAGED2 MAGE family member D2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "JCL-1|BCG1|11B6|MAGE-D2|HCA10|MAGED|MGC8386" "hepatocellular carcinoma associated protein|breast cancer associated gene 1|melanoma-associated antigen D2|hepatocellular carcinoma-associated protein HCA10" melanoma antigen family D2 "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 2001-08-16 2015-11-13 2021-05-26 10916 ENSG00000102316 OTTHUMG00000021638 uc004dtk.3 AF128527 NM_014599 CCDS14362 Q9UNF1 MGI:1933391 RGD:70899 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGED2 300470 459084 HGNC:16353 "ENST00000375068.6|NM_177433.3" HGNC:16353 +HGNC:23793 MAGED4 MAGE family member D4 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "MAGE1|MGC3210|KIAA1859|MAGE-E1" melanoma antigen family D4 "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 2003-12-23 2015-11-13 2020-04-20 728239 ENSG00000154545 OTTHUMG00000042235 uc004dpw.6 AF320908 NM_001098800 "CCDS48116|CCDS65261" Q96JG8 11406556 300702 HGNC:23793 "ENST00000471932.6|NM_001272063.2" +HGNC:22880 MAGED4B MAGE family member D4B protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 melanoma antigen family D4B "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 2006-07-04 2015-11-13 2016-10-05 81557 ENSG00000187243 OTTHUMG00000021546 uc004dpt.5 NM_001242362 "CCDS56602|CCDS35281|CCDS14338" Q96JG8 300765 HGNC:22880 "ENST00000335504.10|NM_030801.5" +HGNC:24934 MAGEE1 MAGE family member E1 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "KIAA1587|DAMAGE" melanoma antigen family E1 MAGE family 1136 2004-06-25 2015-11-13 2020-04-02 57692 ENSG00000198934 OTTHUMG00000021879 uc004ecm.3 AF490507 NM_020932 CCDS14433 Q9HCI5 14623885 MGI:2148149 RGD:1560259 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEE1 300759 HGNC:24934 "ENST00000361470.4|NM_020932.3" +HGNC:24935 MAGEE2 MAGE family member E2 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 HCA3 "Melanoma-associated antigen E2|Hepatocellular carcinoma-associated protein 3" melanoma antigen family E2 MAGE family 1136 2004-06-08 2015-11-13 2021-12-07 139599 ENSG00000186675 OTTHUMG00000021870 uc004ecj.3 AF490509 NM_138703 CCDS14431 Q8TD90 11454705 MGI:2148316 RGD:1564872 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEE2 300760 HGNC:24935 "ENST00000373359.4|NM_138703.5" HGNC:24935 +HGNC:29639 MAGEF1 MAGE family member F1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 melanoma antigen family F1 MAGE family 1136 2004-06-07 2015-11-13 2016-10-05 64110 ENSG00000177383 OTTHUMG00000156712 uc003fpa.4 AF295378 NM_022149 CCDS3269 Q9HAY2 11313144 609267 HGNC:29639 "ENST00000317897.5|NM_022149.5" +HGNC:24092 MAGEH1 MAGE family member H1 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 APR1 melanoma antigen family H1 MAGE family 1136 2004-05-27 2015-11-13 2020-04-02 28986 ENSG00000187601 OTTHUMG00000021655 uc004dum.5 AF320912 NM_014061 CCDS14369 Q9H213 "12414813|9485030" MGI:1922875 RGD:1359316 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGEH1 300548 HGNC:24092 "ENST00000342972.3|NM_014061.5" +HGNC:6814 MAGEL2 MAGE family member L2 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 nM15 NDNL1 "MAGE-like 2|melanoma antigen family L2" MAGE family 1136 1999-10-29 2015-11-13 2021-05-26 54551 ENSG00000254585 OTTHUMG00000167582 uc001ywj.5 AJ243531 NM_019066 CCDS73700 Q9UJ55 10556298 MGI:1351648 RGD:1583615 LRG_1046|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1046.xml 605283 123324 HGNC:6814 "ENST00000650528.1|NM_019066.5" HGNC:6814 +HGNC:946 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "BAP1|MAGI-1|TNRC19|AIP3|WWP3" BAIAP1 BAI1-associated protein 1 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1998-09-29 2005-05-10 2005-05-10 2020-09-17 9223 ENSG00000151276 OTTHUMG00000157554 uc003dmo.4 AB010894 NM_004742 "CCDS33780|CCDS33781|CCDS2904" Q96QZ7 "9647739|9225980" MGI:1203522 RGD:1586025 602625 HGNC:946 "ENST00000402939.7|NM_001033057.2" +HGNC:40091 MAGI1-AS1 MAGI1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 MAGI1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100873983 ENSG00000240175 OTTHUMG00000158733 uc031san.1 NR_046575 MAGI1-AS1 HGNC:40091 +HGNC:42436 MAGI1-IT1 MAGI1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 MAGI1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-07-27 2015-02-25 2019-07-12 151877 ENSG00000272610 OTTHUMG00000186069 uc032rqc.2 NR_145422 31222747 MAGI1-IT1 HGNC:42436 +HGNC:18957 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "AIP1|ARIP1|KIAA0705|ACVRIP1|MAGI-2" activin receptor-interacting protein 1 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 2005-05-10 2021-10-20 9863 ENSG00000187391 OTTHUMG00000130697 uc003ugx.3 AB014605 NM_012301 "CCDS5594|CCDS75623" Q86UL8 "10681527|9734811" MGI:1354953 RGD:621855 606382 470624 HGNC:18957 "ENST00000354212.9|NM_012301.4" HGNC:18957 +HGNC:40860 MAGI2-AS1 MAGI2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.11 07q21.11 MAGI2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874020 ENSG00000251276 OTTHUMG00000155510 uc064esz.1 MAGI2-AS1 +HGNC:40861 MAGI2-AS2 MAGI2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q21.11 07q21.11 MAGI2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874021 ENSG00000226978 OTTHUMG00000155511 uc031syd.1 NR_046689 MAGI2-AS2 HGNC:40861 +HGNC:40862 MAGI2-AS3 MAGI2 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 7q21.11 07q21.11 ENST00000414797 MAGI2 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2018-04-27 100505881 ENSG00000234456 OTTHUMG00000155465 uc022agr.2 NR_038343 "27816668|29679339" MAGI2-AS3 HGNC:40862 +HGNC:29647 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 MAGI-3 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 2005-05-10 2015-03-03 260425 ENSG00000081026 OTTHUMG00000011737 uc001edj.4 AF213259 NM_152900 "CCDS44196|CCDS860" Q5TCQ9 "10997877|10748157" MGI:1923484 RGD:621362 615943 HGNC:29647 "ENST00000307546.14|NM_001142782.2" +HGNC:30006 MAGIX MAGI family member, X-linked protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "PDZX|JM10|FLJ21687" PDZ domain containing 1220 2007-03-14 2017-12-20 79917 ENSG00000269313 OTTHUMG00000188218 uc033ecx.2 AK025340 NM_024859 "CCDS48106|CCDS48107|CCDS75976" Q9H6Y5 MGI:1859644 RGD:1549729 HGNC:30006 +HGNC:6815 MAGOH mago homolog, exon junction complex subunit protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "MAGOHA|MAGOH1" "mago-nashi (Drosophila) homolog, proliferation-associated|mago-nashi homolog, proliferation-associated (Drosophila)|mago homolog, exon junction complex core component" "Exon junction complex|Spliceosomal P complex" "1238|1516" 1997-02-11 2018-04-30 2018-04-30 4116 ENSG00000162385 OTTHUMG00000008932 uc001cvf.2 AF035940 NM_002370 CCDS577 P61326 9479507 MGI:1330312 RGD:1305174 602603 HGNC:6815 "ENST00000371470.8|NM_002370.4" +HGNC:49539 MAGOH-DT MAGOH divergent transcript non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Divergent transcripts 1990 2021-08-02 2021-08-02 100507564 ENSG00000226754 OTTHUMG00000008941 NR_038953 +HGNC:30148 MAGOH2P mago homolog 2, pseudogene pseudogene pseudogene Approved 17p13.1 17p13.1 MAGOH2 mago-nashi homolog 2, proliferation-associated (Drosophila) 2005-04-07 2014-12-17 2015-07-13 2020-04-20 100506898 ENSG00000264176 OTTHUMG00000178044 "AW371909|AY672100" NR_049723 PGOHUM00000293956 HGNC:30148 +HGNC:20020 MAGOH3P mago homolog 3, pseudogene pseudogene pseudogene Approved 14q24.1 14q24.1 MAGOHP1 MAGOHP "mago-nashi homolog, proliferation-associated pseudogene (Drosophila)|mago-nashi homolog, proliferation-associated (Drosophila) pseudogene" 2003-01-13 2010-02-25 2015-07-13 2015-07-13 90352 ENSG00000270975 OTTHUMG00000184601 NG_002581 PGOHUM00000292712 HGNC:20020 +HGNC:25504 MAGOHB mago homolog B, exon junction complex subunit protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "FLJ10292|MGN2" "mago-nashi homolog B (Drosophila)|mago homolog B, exon junction complex core component" Exon junction complex 1238 2008-01-24 2018-04-30 2018-04-30 55110 ENSG00000111196 OTTHUMG00000168407 uc001qyq.3 NM_018048 "CCDS76532|CCDS8628" Q96A72 23917022 MGI:1913691 RGD:1597384 619552 HGNC:25504 "ENST00000320756.7|NM_018048.5" +HGNC:28880 MAGT1 magnesium transporter 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "DKFZp564K142|IAP|OST3B|MRX95|SLC58A1" oligosaccharyltransferase 3 homolog B (S. cerevisiae) "Oligosaccharyltransferase complex subunits|Solute carriers" "445|752" 2008-01-18 2021-04-13 84061 ENSG00000102158 OTTHUMG00000021882 uc004fof.4 NM_032121 CCDS14436 Q9H0U3 "15804357|25135935" MGI:1914325 RGD:620094 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAGT1|LRG_353|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_353.xml" 300715 250175 objectId:3039 HGNC:28880 "ENST00000618282.5|NM_001367916.1" HGNC:28880 +HGNC:51558 MAILR macrophage interferon regulatory lncRNA non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 MAIL1 Macrophage Interferon-regulatory LncRNA 1 AZIN1-AS1 AZIN1 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2015-03-05 2020-04-17 2020-04-17 2020-04-17 100506753 ENSG00000253320 OTTHUMG00000164825 NR_126338 32241891 AZIN1-AS1 HGNC:51558 +HGNC:26198 MAIP1 matrix AAA peptidase interacting protein 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "DKFZp666A212|FLJ22555" C2orf47 chromosome 2 open reading frame 47 2006-09-01 2016-09-30 2016-09-30 2016-09-30 79568 ENSG00000162972 OTTHUMG00000132771 uc002uvm.4 BC017959 NM_024520 CCDS2329 Q8WWC4 "25048349|27642048" MGI:1915365 RGD:1303159 617267 HGNC:26198 "ENST00000392290.6|NM_001394955.1" +HGNC:27441 MAJIN membrane anchored junction protein protein-coding gene gene with protein product Approved 11q13.1 11q13.1 C11orf85 chromosome 11 open reading frame 85 2008-07-18 2016-05-17 2016-05-17 2016-11-16 283129 ENSG00000168070 OTTHUMG00000165632 uc058dbv.1 "AK093130|BC033501" NM_001037225 "CCDS73316|CCDS31603" Q3KP22 26548954 MGI:1923913 RGD:1563886 617130 HGNC:27441 "ENST00000301896.6|NM_001037225.3" +HGNC:6816 MAK male germ cell associated kinase protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "dJ417M14.2|RP62" male germ cell-associated kinase 1994-02-18 2016-01-29 2016-01-29 4117 ENSG00000111837 OTTHUMG00000014247 uc003mzm.4 NM_005906 "CCDS75399|CCDS75398|CCDS4516" P20794 16951154 MGI:96913 RGD:3036 154235 274231 objectId:2061 HGNC:6816 "ENST00000354489.7|NM_001242957.3" HGNC:6816 +HGNC:13703 MAK16 MAK16 homolog protein-coding gene gene with protein product Approved 8p12 08p12 MAK16L RBM13 "RNA binding motif protein 13|MAK16 homolog (S. cerevisiae)" RNA binding motif containing 725 2000-10-19 2008-06-04 2015-07-03 2019-02-08 84549 ENSG00000198042 OTTHUMG00000163957 uc003xjj.4 AF251062 NM_032509 CCDS6089 Q9BXY0 "29245012|29557065" MGI:1915170 RGD:1311297 470626 HGNC:13703 "ENST00000360128.11|NM_032509.4" +HGNC:6817 MAL mal, T cell differentiation protein protein-coding gene gene with protein product Approved 2q11.1 02q11.1 "MVP17|VIP17" "MyD88-adapter-like|myelin and lymphocyte protein" mal, T-cell differentiation protein MARVEL domain containing 1626 1986-01-01 2017-12-06 2018-05-15 4118 ENSG00000172005 OTTHUMG00000132011 uc002stx.3 NM_002371 "CCDS2007|CCDS2009|CCDS2008|CCDS2006" P21145 12072368 MGI:892970 RGD:3037 188860 HGNC:6817 "ENST00000309988.9|NM_002371.4" +HGNC:13634 MAL2 mal, T cell differentiation protein 2 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "MAL proteolipid protein 2|myelin and lymphocyte protein 2" "mal, T-cell differentiation protein 2 (gene/pseudogene)|mal, T cell differentiation protein 2 (gene/pseudogene)" MARVEL domain containing 1626 2001-09-05 2020-05-01 2020-05-01 114569 ENSG00000147676 OTTHUMG00000164973 uc033bxh.1 AL117612 NM_052886 CCDS75780 Q969L2 "11549320|12370246" MGI:2146021 RGD:735066 609684 HGNC:13634 "ENST00000614891.5|NM_052886.3" +HGNC:53626 MAL2-AS1 MAL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.12 08q24.12 Antisense RNAs 1987 2017-08-03 2017-08-03 105375726 ENSG00000253972 OTTHUMG00000164978 NR_149111 HGNC:53626 +HGNC:29665 MALAT1 metastasis associated lung adenocarcinoma transcript 1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 "PRO1073|MALAT-1|NCRNA00047|HCN|NEAT2|LINC00047|mascRNA" "metastasis associated in lung adenocarcinoma transcript 1|non-protein coding RNA 47|hepcarcin|nuclear enriched abundant transcript 2|nuclear paraspeckle assembly transcript 2 (non-protein coding)|long intergenic non-protein coding RNA 47" metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2004-06-25 2018-05-16 2018-05-16 378938 ENSG00000251562 OTTHUMG00000166322 uc010roh.5 AF001540 NR_002819 "12970751|22560368|27693631" MGI:1919539 607924 Malat1 MALAT1 HGNC:29665 +HGNC:49009 MALINC1 mitosis associated long intergenic non-coding RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 MA-linc1 mitosis-associated long intergenic non-coding RNA 1 LINC01024 long intergenic non-protein coding RNA 1024 Long non-coding RNAs with non-systematic symbols 1992 2013-07-30 2017-07-27 2017-07-27 2017-07-27 100505636 ENSG00000245146 OTTHUMG00000163537 NR_102739 26337085 LINC01024 HGNC:49009 +HGNC:6818 MALL mal, T cell differentiation protein like protein-coding gene gene with protein product Approved 2q13 02q13 BENE mal, T-cell differentiation protein like "MARVEL domain containing|MicroRNA protein coding host genes" "1626|1691" 1997-10-08 2017-12-06 2017-12-06 7851 ENSG00000144063 OTTHUMG00000131196 uc002tfk.3 U17077 NM_005434 CCDS2085 Q13021 9326933 MGI:2385152 RGD:1310869 602022 HGNC:6818 "ENST00000272462.3|NM_005434.5" +HGNC:55038 MALLP1 MALL pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 2020-06-03 2020-06-03 117981794 ENSG00000282785 +HGNC:55039 MALLP2 MALL pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2020-06-04 2020-06-04 105374855 ENSG00000283270 XR_940348 +HGNC:24331 MALRD1 MAM and LDL receptor class A domain containing 1 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 "bA265G8.2|Diet1" C10orf112 chromosome 10 open reading frame 112 2004-05-27 2013-12-13 2013-12-13 2018-11-16 340895 ENSG00000204740 OTTHUMG00000017779 KC843478 NM_001142308 CCDS73071 Q5VYJ5 19103277 MGI:1928271 RGD:2320868 617715 HGNC:24331 "ENST00000454679.7|NM_001142308.3" +HGNC:21721 MALSU1 mitochondrial assembly of ribosomal large subunit 1 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 mtRsfA C7orf30 chromosome 7 open reading frame 30 2003-07-14 2012-02-20 2012-02-20 2014-11-19 115416 ENSG00000156928 OTTHUMG00000128443 uc003swd.2 BC012331 NM_138446 CCDS5381 Q96EH3 "22238376|22238375" MGI:1922843 RGD:1306936 614624 HGNC:21721 "ENST00000466681.2|NM_138446.2" +HGNC:6819 MALT1 MALT1 paracaspase protein-coding gene gene with protein product Approved 18q21.32 18q21.32 PCASP1 "MALT1 protease|paracaspase 1" MLT mucosa associated lymphoid tissue lymphoma translocation gene 1 "Immunoglobulin like domain containing|CBM complex" "594|1405" 1999-08-02 2014-12-01 2021-04-13 10892 ENSG00000172175 OTTHUMG00000132761 uc002lhm.3 NM_006785 "CCDS11967|CCDS11968" Q9UDY8 "10339464|10406266|10523859|11090634|26377317" MGI:2445027 RGD:1309195 LRG_1221|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1221.xml MALT1 604860 159756 C14.026 objectId:2983 HGNC:6819 "ENST00000649217.2|NM_006785.4" HGNC:6819 +HGNC:55306 MALT1-AS1 MALT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q21.32 18q21.32 Antisense RNAs 1987 2020-10-16 2020-10-16 101927322 ENSG00000267226 NR_164150 +HGNC:23673 MAMDC2 MAM domain containing 2 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 MGC21981 2003-12-01 2016-10-05 256691 ENSG00000165072 OTTHUMG00000019990 uc004ahm.3 BC040299 NM_153267 CCDS6631 Q7Z304 MGI:1918988 RGD:1305129 612879 HGNC:23673 "ENST00000377182.5|NM_153267.5" +HGNC:48719 MAMDC2-AS1 MAMDC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.12 09q21.12 Antisense RNAs 1987 2013-06-07 2020-04-01 100507244 ENSG00000204706 OTTHUMG00000019986 NR_040076 32226304 MAMDC2-AS1 HGNC:48719 +HGNC:24083 MAMDC4 MAM domain containing 4 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "AEGP|DKFZp434M1411|EDTB" "apical early endosomal glycoprotein precursor|endotubin" 2005-08-22 2020-03-13 158056 ENSG00000177943 OTTHUMG00000020951 uc064xfc.1 AL834531 NM_206920 CCDS7010 Q6UXC1 7829488 MGI:2685841 RGD:708583 617208 HGNC:24083 "ENST00000317446.7|NM_206920.3" HGNC:24083 +HGNC:13632 MAML1 mastermind like transcriptional coactivator 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "KIAA0200|Mam-1" mastermind homolog "mastermind (drosophila)-like 1|mastermind-like 1 (Drosophila)" 2001-07-19 2015-11-19 2016-10-25 9794 ENSG00000161021 OTTHUMG00000163237 uc003mkm.3 D83785 NM_014757 CCDS34315 Q92585 "11101851|11390662" MGI:1890504 RGD:1308631 605424 HGNC:13632 "ENST00000292599.4|NM_014757.5" +HGNC:16259 MAML2 mastermind like transcriptional coactivator 2 protein-coding gene gene with protein product Approved 11q21 11q21 "KIAA1819|MAM3" "mastermind (Drosophila)-like 2|mastermind-like 2 (Drosophila)" 2002-11-04 2015-11-19 2016-10-05 84441 ENSG00000184384 OTTHUMG00000167677 uc001pfw.3 AB058722 NM_032427 CCDS44714 Q8IZL2 "12370315|12386158" MGI:2389460 RGD:1587536 MAML2 607537 HGNC:16259 "ENST00000524717.6|NM_032427.4" +HGNC:16272 MAML3 mastermind like transcriptional coactivator 3 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "KIAA1816|MAM2|CAGH3|GDN" mastermind (drosophila)-like 3 TNRC3 "trinucleotide repeat containing 3|mastermind-like 3 (Drosophila)" 2002-11-04 2015-11-19 2015-11-19 55534 ENSG00000196782 OTTHUMG00000161441 uc062zte.1 AB058719 NM_018717 CCDS54805 Q96JK9 "12370315|12386158" MGI:2389461 RGD:1308177 608991 HGNC:16272 "ENST00000509479.6|NM_018717.5" +HGNC:2568 MAMLD1 mastermind like domain containing 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "CG1|F18" CXorf6 chromosome X open reading frame 6 1999-05-18 2008-01-03 2015-11-19 2020-04-02 10046 ENSG00000013619 OTTHUMG00000024157 uc065boq.1 U46023 NM_005491 "CCDS55526|CCDS55525|CCDS14693" Q13495 "9169146|17086185|18162467" MGI:3045303 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAMLD1 300120 159494 HGNC:2568 "ENST00000370401.7|NM_005491.5" HGNC:2568 +HGNC:26689 MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MASTR|FLJ36070" MEF2-activating SAP transcriptional regulator Myocardin family 1407 2009-05-08 2014-11-19 284358 ENSG00000176909 OTTHUMG00000183322 uc002pkf.3 AK093389 NM_182574 "CCDS12730|CCDS46137|CCDS74415" Q6ZN01 16818234 MGI:1921740 RGD:1588652 610349 HGNC:26689 "ENST00000318083.11|NM_001130915.2" +HGNC:6821 MAN1A1 mannosidase alpha class 1A member 1 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 mannosidase, alpha, class 1A, member 1 Mannosidases alpha class 1 1193 1997-07-01 2016-01-22 2016-10-05 4121 ENSG00000111885 OTTHUMG00000015472 uc003pym.3 AK025599 NM_005907 CCDS5122 P33908 8223597 MGI:104677 RGD:1310891 604344 3.2.1.113 HGNC:6821 "ENST00000368468.4|NM_005907.4" +HGNC:6822 MAN1A2 mannosidase alpha class 1A member 2 protein-coding gene gene with protein product Approved 1p12 01p12 MAN1B mannosidase, alpha, class 1A, member 2 Mannosidases alpha class 1 1193 1999-08-12 2016-01-22 2016-10-05 10905 ENSG00000198162 OTTHUMG00000012149 uc001ehd.2 AF027156 NM_006699 CCDS895 O60476 9592125 MGI:104676 RGD:1309767 604345 HGNC:6822 "ENST00000356554.7|NM_006699.5" +HGNC:50488 MAN1A2P1 mannosidase alpha class 1A member 2 pseudogene 1 pseudogene pseudogene Approved 19q12 19q12 mannosidase, alpha, class 1A, member 2 pseudogene 1 2014-05-07 2016-01-22 2016-01-22 100129507 ENSG00000267799 OTTHUMG00000181945 NG_021747 PGOHUM00000259323 HGNC:50488 +HGNC:6823 MAN1B1 mannosidase alpha class 1B member 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MANA-ER|MRT15|ERManI|ERMan1" "endoplasmic reticulum alpha-mannosidase 1|alpha 1,2-mannosidase|endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1|ER alpha 1,2-mannosidase|Man9GlcNAc2-specific processing alpha-mannosidase|endoplasmic Reticulum Class I alpha-mannosidase" mannosidase, alpha, class 1B, member 1 Mannosidases alpha class 1 1193 1999-09-28 2016-01-22 2021-12-07 11253 ENSG00000177239 OTTHUMG00000020978 uc004cld.3 AF145732 NM_016219 CCDS7029 Q9UKM7 "10409699|10521544|21763484" MGI:2684954 RGD:1563595 604346 279756 3.2.1.113 HGNC:6823 "ENST00000371589.9|NM_016219.5" HGNC:6823 +HGNC:48715 MAN1B1-DT MAN1B1 divergent transcript non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 MAN1B1-AS1 MAN1B1 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-06-07 2018-03-23 2018-03-23 2018-03-23 100289341 ENSG00000268996 OTTHUMG00000187259 NR_027447 MAN1B1-AS1 HGNC:48715 +HGNC:19080 MAN1C1 mannosidase alpha class 1C member 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 HMIC mannosidase, alpha, class 1C, member 1 Mannosidases alpha class 1 1193 2002-08-06 2016-01-22 2016-10-05 57134 ENSG00000117643 OTTHUMG00000004417 uc001bkm.3 AF261655 NM_020379 CCDS265 Q9NR34 10915796 MGI:2446214 RGD:1309672 616772 HGNC:19080 "ENST00000374332.9|NM_020379.4" +HGNC:6824 MAN2A1 mannosidase alpha class 2A member 1 protein-coding gene gene with protein product Approved 5q21.3 05q21.3 GOLIM7 golgi integral membrane protein 7 MANA2 mannosidase, alpha, class 2A, member 1 Mannosidases alpha class 2 1194 1993-11-01 2016-01-22 2016-01-22 4124 ENSG00000112893 OTTHUMG00000162834 uc003kou.3 NM_002372 CCDS34209 Q16706 "1757461|15004235" MGI:104669 RGD:3038 154582 3.2.1.114 HGNC:6824 "ENST00000261483.5|NM_002372.4" +HGNC:54821 MAN2A1-DT MAN2A1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q21.3 05q21.3 Divergent transcripts 1990 2020-01-17 2020-07-16 116435300 ENSG00000271849 32079618 +HGNC:6825 MAN2A2 mannosidase alpha class 2A member 2 protein-coding gene gene with protein product Approved 15q25 15q25 "MANA2X|HsT19662" mannosidase, alpha, class 2A, member 2 Mannosidases alpha class 2 1194 1997-07-01 2016-01-22 2016-01-22 4122 ENSG00000196547 OTTHUMG00000172385 uc010bnz.3 L28821 NM_006122 CCDS32332 P49641 8524845 MGI:2150656 RGD:1310238 600988 HGNC:6825 "ENST00000559717.6|NM_006122.4" +HGNC:6826 MAN2B1 mannosidase alpha class 2B member 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 LAMAN lysosomal alpha-mannosidase MANB mannosidase, alpha, class 2B, member 1 Mannosidases alpha class 2 1194 2001-06-22 2016-01-22 2021-12-07 4125 ENSG00000104774 OTTHUMG00000156397 uc002mub.3 NM_000528 "CCDS32919|CCDS54224" O00754 "15712269|19722277" MGI:107286 RGD:3039 609458 123328 3.2.1.24 HGNC:6826 "ENST00000456935.7|NM_000528.4" HGNC:6826 +HGNC:29623 MAN2B2 mannosidase alpha class 2B member 2 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "KIAA0935|EpMAN" "core-specific lysosomal alpha-1,6-Mannosidase|Epididymis-specific alpha-mannosidase" mannosidase, alpha, class 2B, member 2 Mannosidases alpha class 2 1194 2004-04-05 2016-01-22 2021-12-07 23324 ENSG00000013288 OTTHUMG00000160073 uc003gjf.2 BC033307 NM_015274 "CCDS33951|CCDS77898" Q9Y2E5 "10231032|16115860|19722277|31775018" MGI:1195262 RGD:1308840 618899 3.2.1.24 HGNC:29623 "ENST00000285599.8|NM_015274.3" +HGNC:6827 MAN2C1 mannosidase alpha class 2C member 1 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "MANA1|MANA" mannosidase, alpha, class 2C, member 1 Mannosidases alpha class 2 1194 1986-01-01 2016-01-22 2016-01-22 4123 ENSG00000140400 OTTHUMG00000172698 uc002baf.5 AF044414 NM_001256494 "CCDS32298|CCDS58389|CCDS58390|CCDS58391" Q9NTJ4 "1757461|752528" MGI:1920994 RGD:628787 154580 3.2.1.24 HGNC:6827 "ENST00000267978.10|NM_006715.4" +HGNC:6831 MANBA mannosidase beta protein-coding gene gene with protein product Approved 4q24 04q24 beta-mannosidase A mannosidase, beta A, lysosomal Mannosidases type beta 1196 1990-05-25 2016-01-22 2021-05-26 4126 ENSG00000109323 OTTHUMG00000131123 uc003hwg.4 NM_005908 CCDS3658 O00462 7876128 MGI:88175 RGD:1305785 609489 123131 3.2.1.25 HGNC:6831 "ENST00000647097.2|NM_005908.4" HGNC:6831 +HGNC:15799 MANBAL mannosidase beta like protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ1141E15.2 "mannosidase, beta A, lysosomal-like|mannosidase beta A like" Mannosidases type beta 1196 2001-09-17 2016-01-22 2016-01-22 63905 ENSG00000101363 OTTHUMG00000032414 uc002xgv.4 NM_022077 CCDS13293 Q9NQG1 MGI:1916411 RGD:1561447 HGNC:15799 "ENST00000373606.8|NM_001003897.2" +HGNC:44678 MANCR mitotically associated long non coding RNA non-coding RNA RNA, long non-coding Approved 10p15.1 10p15.1 CR749391 LINC00704 long intergenic non-protein coding RNA 704 Long non-coding RNAs with non-systematic symbols 1992 2012-12-04 2018-03-01 2018-03-01 2020-01-10 100216001 ENSG00000231298 OTTHUMG00000017576 uc001ihf.5 BC048320 NR_024475 "29378907|31853323" LINC00704 HGNC:44678 +HGNC:21072 MANEA mannosidase endo-alpha protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "FLJ12838|mandaselin" "glycoprotein endo-alpha-1,2-mannosidase|endomannosidase" mannosidase, endo-alpha Mannosidases endo-alpha 1195 2003-05-15 2016-01-22 2016-10-05 79694 ENSG00000172469 OTTHUMG00000016296 uc003poo.3 AK022900 NM_024641 CCDS5032 Q5SRI9 MGI:2444484 RGD:620327 612327 3.2.1.130 HGNC:21072 "ENST00000358812.9|NM_024641.4" +HGNC:43732 MANEA-DT MANEA divergent transcript non-coding RNA RNA, long non-coding Approved 6q16.1 06q16.1 MANEA-AS1 "MANEA antisense RNA 1 (non-protein coding)|MANEA antisense RNA 1|MANEA antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-02-10 2018-03-23 2018-03-23 2018-03-23 101927288 ENSG00000261366 OTTHUMG00000175933 uc032xey.2 BC047582 NR_047502 MANEA-AS1 HGNC:43732 +HGNC:26452 MANEAL mannosidase endo-alpha like protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ31434 mannosidase, endo-alpha-like Mannosidases endo-alpha 1195 2005-05-23 2016-01-22 2016-01-22 149175 ENSG00000185090 OTTHUMG00000004317 uc001cby.3 AK055996 NM_152496 "CCDS44111|CCDS44110|CCDS426" Q5VSG8 MGI:2684896 RGD:1563973 HGNC:26452 "ENST00000373045.11|NM_001113482.2" +HGNC:54641 MANEALP1 MANEAL pseudogene 1 pseudogene pseudogene Approved 2q21.3 02q21.3 2019-10-31 2019-10-31 391448 ENSG00000214070 NG_021523 +HGNC:15461 MANF mesencephalic astrocyte derived neurotrophic factor protein-coding gene gene with protein product Approved 3p21.2 03p21.2 ARP ARMET "arginine-rich, mutated in early stage tumors|mesencephalic astrocyte-derived neurotrophic factor" 2001-03-30 2009-06-04 2016-01-26 2021-04-14 7873 ENSG00000145050 OTTHUMG00000156897 uc003dbc.4 M83751 NM_006010 CCDS46836 P55145 "12794311|30555354" MGI:1922090 RGD:1307252 601916 HGNC:15461 "ENST00000528157.7|NM_006010.6" +HGNC:25505 MANSC1 MANSC domain containing 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "FLJ10298|LOH12CR3" 2004-04-20 2020-04-01 54682 ENSG00000111261 OTTHUMG00000168541 uc001rai.2 AK001160 NM_018050 "CCDS86284|CCDS8648" Q9H8J5 12975309 MGI:1914979 RGD:1593458 ligandId:10539 HGNC:25505 "ENST00000535902.6|NM_018050.4" +HGNC:40023 MANSC4 MANSC domain containing 4 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 2011-05-05 2015-08-25 100287284 ENSG00000205693 OTTHUMG00000169216 uc010sjs.2 NM_001146221 CCDS53770 A6NHS7 MGI:3645619 RGD:1585055 HGNC:40023 "ENST00000381273.4|NM_001146221.5" +HGNC:6833 MAOA monoamine oxidase A protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 1986-01-01 2021-05-26 4128 ENSG00000189221 OTTHUMG00000021387 uc004dfy.5 NM_000240 "CCDS59163|CCDS14260" P21397 MGI:96915 RGD:61898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAOA 309850 123133 objectId:2489 1.4.3.4 HGNC:6833 "ENST00000338702.4|NM_000240.4" HGNC:6833 +HGNC:6834 MAOB monoamine oxidase B protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 1986-01-01 2020-04-02 4129 ENSG00000069535 OTTHUMG00000021388 uc004dfz.5 NM_000898 CCDS14261 P27338 MGI:96916 RGD:3041 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAOB|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/" 309860 470628 objectId:2490 1.4.3.4 HGNC:6834 "ENST00000378069.5|NM_000898.5" +HGNC:6835 MAP1A microtubule associated protein 1A protein-coding gene gene with protein product Approved 15q15.3 15q15.3 MAP1L 1992-07-09 2015-11-16 2015-11-16 4130 ENSG00000166963 OTTHUMG00000059756 uc001zrt.4 U38292 NM_002373 CCDS42031 P78559 "7806212|7629894" MGI:1306776 RGD:3042 600178 HGNC:6835 "ENST00000300231.6|NM_002373.6" +HGNC:6836 MAP1B microtubule associated protein 1B protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "MAP5|PPP1R102" protein phosphatase 1, regulatory subunit 102 Protein phosphatase 1 regulatory subunits 694 1992-02-06 2015-11-16 2016-10-05 4131 ENSG00000131711 OTTHUMG00000100952 uc003kbw.5 L06237 NM_005909 CCDS4012 P46821 1881920 MGI:1306778 RGD:3043 157129 HGNC:6836 "ENST00000296755.12|NM_005909.5" HGNC:6836 +HGNC:6838 MAP1LC3A microtubule associated protein 1 light chain 3 alpha protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "MAP1BLC3|MAP1ALC3|LC3|LC3A|ATG8E" Autophagy related 1022 2000-06-29 2015-11-16 2015-11-16 84557 ENSG00000101460 OTTHUMG00000032306 uc002xaq.3 NM_181509 "CCDS13238|CCDS13237" Q9H492 "8833088|17580304" MGI:1915661 RGD:735183 601242 HGNC:6838 "ENST00000360668.8|NM_032514.4" +HGNC:13352 MAP1LC3B microtubule associated protein 1 light chain 3 beta protein-coding gene gene with protein product Approved 16q24.2 16q24.2 ATG8F Autophagy related 1022 2002-09-16 2015-11-16 2015-11-16 81631 ENSG00000140941 OTTHUMG00000137654 uc002fjx.4 AF087871 NM_022818 CCDS10960 Q9GZQ8 MGI:1914693 RGD:621315 609604 HGNC:13352 "ENST00000268607.10|NM_022818.5" +HGNC:34390 MAP1LC3B2 microtubule associated protein 1 light chain 3 beta 2 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 ATG8G Autophagy related 1022 2008-07-04 2015-11-16 2015-11-16 643246 ENSG00000258102 OTTHUMG00000171525 uc009zwk.2 NM_001085481 CCDS41841 A6NCE7 MGI:1914693 HGNC:34390 "ENST00000556529.4|NM_001085481.3" +HGNC:49783 MAP1LC3BP1 microtubule associated protein 1 light chain 3 beta pseudogene 1 pseudogene pseudogene Approved 9p22.1 09p22.1 2014-02-14 2015-11-16 2015-11-16 392288 ENSG00000231909 OTTHUMG00000019643 XM_047424278 PGOHUM00000235981 HGNC:49783 +HGNC:13353 MAP1LC3C microtubule associated protein 1 light chain 3 gamma protein-coding gene gene with protein product Approved 1q43 01q43 ATG8J Autophagy related 1022 2005-05-19 2015-11-16 2015-11-16 440738 ENSG00000197769 OTTHUMG00000039865 uc001hzk.3 AF276659 NM_001004343 CCDS31074 Q9BXW4 12740394 609605 HGNC:13353 "ENST00000357246.4|NM_001004343.3" +HGNC:31004 MAP1LC3P microtubule associated protein 1 light chain 3 pseudogene pseudogene pseudogene Approved 18q21.2 18q21.2 HsT312 2004-01-05 2015-11-16 2017-10-30 387615 ENSG00000267647 OTTHUMG00000179818 AY389342 NG_004859 PGOHUM00000294793 HGNC:31004 +HGNC:15715 MAP1S microtubule associated protein 1S protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "FLJ10669|MAP8" "C19orf5|VCY2IP1|BPY2IP1" "chromosome 19 open reading frame 5|VCY2 interacting protein 1|BPY2 interacting protein 1" 2001-06-04 2006-07-04 2015-11-16 2019-04-12 55201 ENSG00000130479 OTTHUMG00000183292 uc002nhe.2 BC067115 NM_018174 "CCDS32954|CCDS77262" Q66K74 "11827465|15528209|16297881|14627543" MGI:2443304 RGD:1308266 607573 HGNC:15715 "ENST00000324096.9|NM_018174.6" +HGNC:6839 MAP2 microtubule associated protein 2 protein-coding gene gene with protein product Approved 2q34 02q34 "MAP2A|MAP2B|MAP2C" A-kinase anchoring proteins 396 1989-01-16 2015-11-16 2016-10-05 4133 ENSG00000078018 OTTHUMG00000132962 uc002vde.2 NM_001039538 "CCDS33369|CCDS2385|CCDS2384|CCDS86916" P11137 "3103857|7479905" MGI:97175 RGD:3044 157130 HGNC:6839 "ENST00000682079.1|NM_001375505.1" +HGNC:6840 MAP2K1 mitogen-activated protein kinase kinase 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "MEK1|MAPKK1" PRKMK1 Mitogen-activated protein kinase kinases 653 1993-11-05 2021-04-13 5604 ENSG00000169032 OTTHUMG00000133196 uc010bhq.4 L11284 NM_002755 CCDS10216 Q02750 "9465908|8388392" MGI:1346866 RGD:70495 "The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MAP2K1|LRG_725|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_725.xml" MAP2K1 176872 123135 objectId:2062 2.7.12.2 HGNC:6840 "ENST00000307102.10|NM_002755.4" HGNC:6840 +HGNC:6841 MAP2K1P1 mitogen-activated protein kinase kinase 1 pseudogene 1 pseudogene pseudogene Approved 8p12 08p12 2000-02-10 2017-10-30 29778 ENSG00000254013 OTTHUMG00000163815 AF157487 NG_001273 PGOHUM00000303493 HGNC:6841 +HGNC:6842 MAP2K2 mitogen-activated protein kinase kinase 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MEK2 PRKMK2 Mitogen-activated protein kinase kinases 653 1993-11-05 2021-04-13 5605 ENSG00000126934 OTTHUMG00000134286 uc002lzk.4 L11285 NM_030662 CCDS12120 P36507 8388392 MGI:1346867 RGD:61888 LRG_750|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_750.xml MAP2K2 601263 123140 objectId:2063 2.7.12.2 HGNC:6842 "ENST00000262948.10|NM_030662.4" HGNC:6842 +HGNC:6843 MAP2K3 mitogen-activated protein kinase kinase 3 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "MEK3|MKK3|MAPKK3" "MAPK/ERK kinase 3|MAP kinase kinase 3|dual specificity mitogen activated protein kinase kinase 3" PRKMK3 Mitogen-activated protein kinase kinases 653 1997-11-11 2016-10-05 5606 ENSG00000034152 OTTHUMG00000134322 uc002gys.4 L36719 NM_145109 "CCDS11218|CCDS11217" P46734 9465908 MGI:1346868 RGD:1306620 602315 objectId:2064 HGNC:6843 "ENST00000342679.9|NM_145109.3" +HGNC:6844 MAP2K4 mitogen-activated protein kinase kinase 4 protein-coding gene gene with protein product Approved 17p12 17p12 "MEK4|JNKK1|PRKMK4|MKK4" SERK1 "Mitogen-activated protein kinase kinases|MicroRNA protein coding host genes" "653|1691" 1997-11-11 2015-02-03 6416 ENSG00000065559 OTTHUMG00000178267 uc002gnj.5 L36870 NM_001281435 "CCDS62095|CCDS11162" P45985 7716521 MGI:1346869 RGD:1307040 MAP2K4 601335 objectId:2065 2.7.12.2 HGNC:6844 "ENST00000353533.10|NM_003010.4" +HGNC:43837 MAP2K4P1 mitogen-activated protein kinase kinase 4 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 2012-03-18 2013-08-05 139201 ENSG00000269904 OTTHUMG00000021833 NR_029423 PGOHUM00000241393 HGNC:43837 +HGNC:6845 MAP2K5 mitogen-activated protein kinase kinase 5 protein-coding gene gene with protein product Approved 15q23 15q23 "MEK5|MAPKK5|HsT17454" PRKMK5 Mitogen-activated protein kinase kinases 653 1997-11-11 2016-10-05 5607 ENSG00000137764 OTTHUMG00000133264 uc002aqu.4 U25265 NM_145162 "CCDS42051|CCDS10224|CCDS55970" Q13163 7759517 MGI:1346345 RGD:61890 602520 objectId:2066 HGNC:6845 "ENST00000178640.10|NM_145160.3" +HGNC:55261 MAP2K5-DT MAP2K5 divergent transcript non-coding RNA RNA, long non-coding Approved 15q23 15q23 Divergent transcripts 1990 2020-09-25 2020-09-25 118732298 ENSG00000270964 +HGNC:6846 MAP2K6 mitogen-activated protein kinase kinase 6 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 "MEK6|MKK6|SAPKK3|MAPKK6" protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6) PRKMK6 Mitogen-activated protein kinase kinases 653 1997-11-11 2016-01-15 5608 ENSG00000108984 OTTHUMG00000180311 uc002jij.4 U39064 NM_002758 "CCDS82194|CCDS11686" P52564 8621675 MGI:1346870 RGD:620666 601254 objectId:2067 HGNC:6846 "ENST00000590474.7|NM_002758.4" +HGNC:6847 MAP2K7 mitogen-activated protein kinase kinase 7 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MKK7|Jnkk2" PRKMK7 Mitogen-activated protein kinase kinases 653 1998-04-28 2016-10-05 5609 ENSG00000076984 OTTHUMG00000137368 uc002mit.4 AF006689 NM_001297555 "CCDS42491|CCDS74277|CCDS74278" O14733 9312068 MGI:1346871 RGD:1560043 603014 objectId:2068 2.7.12.2 HGNC:6847 "ENST00000397979.4|NM_145185.4" HGNC:6847 +HGNC:6848 MAP3K1 mitogen-activated protein kinase kinase kinase 1 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "MEKK|MAPKKK1" MEKK1 MEKK1 "Ring finger proteins|Zinc fingers SWIM-type|Mitogen-activated protein kinase kinase kinases" "58|90|654" 1997-11-14 2016-03-14 2018-11-16 4214 ENSG00000095015 OTTHUMG00000059486 uc003jqw.5 "U29671|AF042838" NM_005921 CCDS43318 Q13233 "8597633|12049732" MGI:1346872 RGD:620966 MAP3K1 600982 260583 objectId:2069 HGNC:6848 "ENST00000399503.4|NM_005921.2" HGNC:6848 +HGNC:6854 MAP3K2 mitogen-activated protein kinase kinase kinase 2 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 MEKK2B MAP/ERK kinase kinase 2 MEKK2 Mitogen-activated protein kinase kinase kinases 654 1999-07-01 2016-10-05 10746 ENSG00000169967 OTTHUMG00000153397 uc032obe.2 AF111105 NM_006609 CCDS46404 Q9Y2U5 "8621389|10085062" MGI:1346873 RGD:620967 609487 objectId:2077 HGNC:6854 "ENST00000682094.1|NM_001371910.2" +HGNC:54088 MAP3K2-DT MAP3K2 divergent transcript non-coding RNA RNA, long non-coding Approved 2q14.3 02q14.3 ENST00000433673 Divergent transcripts 1990 2018-10-25 2018-10-25 100506922 ENSG00000236682 XR_001739698 26650608 HGNC:54088 +HGNC:6855 MAP3K3 mitogen-activated protein kinase kinase kinase 3 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 MAPKKK3 "MAP/ERK kinase kinase 3|MAPK/ERK kinase kinase 3" MEKK3 Mitogen-activated protein kinase kinase kinases 654 1997-11-14 2016-01-15 4215 ENSG00000198909 OTTHUMG00000178905 uc002jbg.4 U78876 NM_002401 "CCDS32702|CCDS82186|CCDS32701|CCDS86624" Q99759 9006902 MGI:1346874 RGD:1304575 602539 objectId:2078 HGNC:6855 "ENST00000361733.8|NM_002401.5" +HGNC:6856 MAP3K4 mitogen-activated protein kinase kinase kinase 4 protein-coding gene gene with protein product Approved 6q26 06q26 "MTK1|MAPKKK4|KIAA0213" MEKK4 Mitogen-activated protein kinase kinase kinases 654 1997-11-14 2015-08-25 4216 ENSG00000085511 OTTHUMG00000015968 uc003qtn.4 AF002715 NM_001291958 "CCDS75544|CCDS87464|CCDS34566|CCDS34565" Q9Y6R4 9305639 MGI:1346875 RGD:1311192 602425 objectId:2079 HGNC:6856 "ENST00000392142.9|NM_005922.4" +HGNC:55048 MAP3K4-AS1 MAP3K4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q26 06q26 Antisense RNAs 1987 2020-06-03 2020-06-03 117981787 ENSG00000272841 AK094629 NR_174962 32468015 +HGNC:6857 MAP3K5 mitogen-activated protein kinase kinase kinase 5 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "MAPKKK5|ASK1" apoptosis signal regulating kinase 1 MEKK5 Mitogen-activated protein kinase kinase kinases 654 1997-11-14 2016-10-05 4217 ENSG00000197442 OTTHUMG00000015647 uc003qhc.4 U67156 NM_005923 CCDS5179 Q99683 9465908 MGI:1346876 RGD:1306565 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MAP3K5 602448 objectId:2080 HGNC:6857 "ENST00000359015.5|NM_005923.4" +HGNC:40358 MAP3K5-AS1 MAP3K5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 Antisense RNAs 1987 2019-08-16 2020-01-22 101928461 ENSG00000234263 OTTHUMG00000015645 NR_125858 HGNC:40358 +HGNC:56125 MAP3K5-AS2 MAP3K5 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 Antisense RNAs 1987 2022-01-10 2022-01-10 2022-01-10 101928429 ENSG00000286646 NR_134635 +HGNC:6858 MAP3K6 mitogen-activated protein kinase kinase kinase 6 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "MAPKKK6|ASK2|MEKK6" apoptosis signal regulating kinase 2 Mitogen-activated protein kinase kinase kinases 654 1999-09-07 2021-04-13 9064 ENSG00000142733 OTTHUMG00000004631 uc057dvi.1 AF100318 NM_004672 "CCDS72738|CCDS299" O95382 9875215 MGI:1855691 RGD:1304625 LRG_1086|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1086.xml 604468 419381 objectId:2081 HGNC:6858 "ENST00000357582.3|NM_004672.5" HGNC:6858 +HGNC:6859 MAP3K7 mitogen-activated protein kinase kinase kinase 7 protein-coding gene gene with protein product Approved 6q15 06q15 MEKK7 TGF-beta activated kinase 1 TAK1 Mitogen-activated protein kinase kinase kinases 654 1998-05-22 2016-04-20 6885 ENSG00000135341 OTTHUMG00000015217 uc003pnz.3 AB009356 NM_145331 "CCDS5028|CCDS5029|CCDS5030|CCDS5027" O43318 9466656 MGI:1346877 RGD:1309438 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MAP3K7 602614 466382 objectId:2082 HGNC:6859 "ENST00000369329.8|NM_145331.3" HGNC:6859 +HGNC:16457 MAP3K7CL MAP3K7 C-terminal like protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "TAKL|TAK1L|TAKL-1|TAKL-2|TAKL-4" C21orf7 chromosome 21 open reading frame 7 2001-08-24 2013-02-22 2013-02-22 2016-10-05 56911 ENSG00000156265 OTTHUMG00000078806 uc002yne.5 AF269161 NM_020152 "CCDS68182|CCDS13584|CCDS74775" P57077 MGI:2446584 RGD:1359474 611110 HGNC:16457 "ENST00000399928.6|NM_001286620.2" +HGNC:6860 MAP3K8 mitogen-activated protein kinase kinase kinase 8 protein-coding gene gene with protein product Approved 10p11.23 10p11.23 "Tpl-2|EST|c-COT|MEKK8" "COT|ESTF" Mitogen-activated protein kinase kinase kinases 654 1992-09-14 2016-10-05 1326 ENSG00000107968 OTTHUMG00000017889 uc001ivi.3 D14497 NM_005204 CCDS7166 P41279 "2072910|8479752" MGI:1346878 RGD:620969 191195 objectId:2083 HGNC:6860 "ENST00000263056.6|NM_005204.4" +HGNC:6861 MAP3K9 mitogen-activated protein kinase kinase kinase 9 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "PRKE1|MEKK9" MLK1 Mitogen-activated protein kinase kinase kinases 654 1993-12-15 2015-09-03 4293 ENSG00000006432 OTTHUMG00000171249 uc001xml.5 AF251442 NM_001284230 "CCDS61485|CCDS32112|CCDS61488|CCDS73650" P80192 MGI:2449952 RGD:1562149 600136 objectId:2084 HGNC:6861 "ENST00000554752.7|NM_001284230.2" +HGNC:53189 MAP3K9-DT MAP3K9 divergent transcript non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 lincNMR Divergent transcripts 1990 2021-01-08 2021-10-20 100506411 ENSG00000259153 OTTHUMG00000171250 XR_001750801 +HGNC:6849 MAP3K10 mitogen-activated protein kinase kinase kinase 10 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "MST|MEKK10" "MKN28 kinase|mixed lineage kinase 2|MKN28 derived nonreceptor_type serine/threonine kinase" MLK2 Mitogen-activated protein kinase kinase kinases 654 1994-10-07 2014-11-19 4294 ENSG00000130758 OTTHUMG00000182591 uc002ona.3 X90846 NM_002446 CCDS12549 Q02779 "8536694|7731697" MGI:1346879 RGD:1308381 600137 objectId:2070 2.7.11.1 HGNC:6849 "ENST00000253055.8|NM_002446.4" +HGNC:6850 MAP3K11 mitogen-activated protein kinase kinase kinase 11 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "SPRK|MEKK11" "MLK3|PTK1" Mitogen-activated protein kinase kinase kinases 654 1992-10-02 2016-10-05 4296 ENSG00000173327 OTTHUMG00000166529 uc001oew.4 NM_002419 CCDS8107 Q16584 "9267807|8183572" MGI:1346880 RGD:1359261 600050 objectId:2071 2.7.10.1 HGNC:6850 "ENST00000309100.8|NM_002419.4" +HGNC:6851 MAP3K12 mitogen-activated protein kinase kinase kinase 12 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MUK|DLK|ZPKP1|MEKK12" dual leucine zipper kinase DLK ZPK Mitogen-activated protein kinase kinase kinases 654 1994-09-29 2013-10-30 7786 ENSG00000139625 OTTHUMG00000169854 uc001sdm.3 U07358 NM_006301 "CCDS8860|CCDS55831" Q12852 8037767 MGI:1346881 RGD:3988 600447 objectId:2072 HGNC:6851 "ENST00000547488.6|NM_001193511.2" +HGNC:6852 MAP3K13 mitogen-activated protein kinase kinase kinase 13 protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "LZK|MEKK13" leucine zipper-bearing kinase Mitogen-activated protein kinase kinase kinases 654 1999-09-07 2016-10-05 9175 ENSG00000073803 OTTHUMG00000156673 uc010hyf.4 BC031677 NM_004721 "CCDS3270|CCDS56298" O43283 9353328 MGI:2444243 RGD:1561227 MAP3K13 604915 objectId:2073 HGNC:6852 "ENST00000265026.8|NM_004721.5" +HGNC:6853 MAP3K14 mitogen-activated protein kinase kinase kinase 14 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "NIK|HSNIK|FTDCR1B|HS" serine/threonine protein-kinase Mitogen-activated protein kinase kinase kinases 654 2000-08-11 2021-04-13 9020 ENSG00000006062 OTTHUMG00000180364 uc032fjz.2 Y10256 NM_003954 CCDS74079 Q99558 9020361 MGI:1858204 RGD:1310487 LRG_1222|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1222.xml 604655 457451 objectId:2074 2.7.11.25 HGNC:6853 "ENST00000344686.8|NM_003954.5" HGNC:6853 +HGNC:44359 MAP3K14-AS1 MAP3K14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Antisense RNAs 1987 2012-08-17 2014-06-16 100133991 ENSG00000267278 OTTHUMG00000180362 uc032fjv.2 "AK311429|BC031942" NR_024434 MAP3K14-AS1 HGNC:44359 +HGNC:31689 MAP3K15 mitogen-activated protein kinase kinase kinase 15 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "bA723P2.3|FLJ16518|ASK3" Mitogen-activated protein kinase kinase kinases 654 2005-01-24 2020-04-02 389840 ENSG00000180815 OTTHUMG00000022724 uc022btq.2 AK131412 NM_001001671 CCDS35212 Q6ZN16 "20362554|23250415" MGI:2448588 RGD:1560603 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP3K15 300820 objectId:2075 HGNC:31689 "ENST00000338883.9|NM_001001671.4" +HGNC:26249 MAP3K19 mitogen-activated protein kinase kinase kinase 19 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "FLJ23074|RCK" YSK4 "Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)|yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)|YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)" Mitogen-activated protein kinase kinase kinases 654 2005-05-09 2012-10-16 2012-10-16 2016-10-19 80122 ENSG00000176601 OTTHUMG00000074083 uc002tue.2 AK026727 NM_025052 "CCDS33293|CCDS63020|CCDS2176|CCDS63021|CCDS63022" Q56UN5 27144281 MGI:1203481 RGD:1566400 objectId:2076 HGNC:26249 "ENST00000392915.7|NM_025052.5" +HGNC:17797 MAP3K20 mitogen-activated protein kinase kinase kinase 20 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "MLTKalpha|MLTKbeta|ZAK|MLTK|MLK7|MRK" "ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)|mixed lineage kinase 7" Mitogen-activated protein kinase kinase kinases 654 2016-10-19 2016-11-15 51776 ENSG00000091436 OTTHUMG00000132297 AB049733 NM_016653 "CCDS42777|CCDS2251" Q9NYL2 10924358 MGI:2443258 RGD:1561394 609479 objectId:2289 HGNC:17797 "ENST00000375213.8|NM_016653.3" HGNC:17797 +HGNC:27935 MAP3K20-AS1 MAP3K20 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 MLK7-AS1 "MLK7 antisense RNA 1 (non-protein coding)|MLK7 antisense RNA 1" Antisense RNAs 1987 2011-04-28 2016-11-25 2016-11-25 2022-01-10 339751 ENSG00000238133 OTTHUMG00000154109 uc002uib.4 BC040565 NR_033882 29428732 HGNC:27935 +HGNC:29798 MAP3K21 mitogen-activated protein kinase kinase kinase 21 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "KIAA1804|MLK4" mixed lineage kinase 4 Mitogen-activated protein kinase kinase kinases 654 2016-10-19 2016-11-15 84451 ENSG00000143674 OTTHUMG00000037889 AJ311797 NM_032435 CCDS1598 Q5TCX8 11347906 MGI:2385307 RGD:1306091 614793 HGNC:29798 "ENST00000366624.8|NM_032435.3" +HGNC:6862 MAP4 microtubule associated protein 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 1991-07-16 2015-11-16 2016-10-05 4134 ENSG00000047849 OTTHUMG00000156828 uc003csb.3 NM_002375 "CCDS33750|CCDS46821|CCDS46818" P27816 1905296 MGI:97178 RGD:1564359 157132 470630 HGNC:6862 "ENST00000683076.1|NM_001385682.1" +HGNC:6863 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HPK1 hematopoietic progenitor kinase 1 Mitogen-activated protein kinase kinase kinase kinases 655 1999-09-07 2019-08-21 11184 ENSG00000104814 OTTHUMG00000180863 uc002oiy.3 U66464 NM_001042600 "CCDS59385|CCDS42564" Q92918 8824585 MGI:1346882 RGD:1305463 601983 objectId:2085 2.7.11.1 HGNC:6863 "ENST00000396857.7|NM_001042600.3" +HGNC:55302 MAP4K1-AS1 MAP4K1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 Antisense RNAs 1987 2020-10-15 2020-10-15 105372397 ENSG00000267291 NR_134907 +HGNC:6864 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "GCK|BL44" RAB8IP Mitogen-activated protein kinase kinase kinase kinases 655 1997-08-18 2014-11-19 5871 ENSG00000168067 OTTHUMG00000045328 uc001obh.4 BC047865 NM_004579 "CCDS8082|CCDS81582" Q12851 7515885 MGI:1346883 RGD:1308199 603166 objectId:2086 HGNC:6864 "ENST00000294066.7|NM_004579.5" +HGNC:6865 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "GLK|MAPKKKK3" RAB8IPL1 Mitogen-activated protein kinase kinase kinase kinases 655 1998-10-14 2016-10-05 8491 ENSG00000011566 OTTHUMG00000102127 uc002rro.4 AF000145 NM_003618 "CCDS1803|CCDS58707" Q8IVH8 9275185 MGI:2154405 RGD:621280 604921 objectId:2087 HGNC:6865 "ENST00000263881.8|NM_003618.4" +HGNC:54056 MAP4K3-DT MAP4K3 divergent transcript non-coding RNA RNA, long non-coding Approved 2p22.1 02p22.1 Divergent transcripts 1990 2018-09-26 2018-09-26 728730 ENSG00000231312 NR_037875 HGNC:54056 +HGNC:6866 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "HGK|NIK|FLH21957" "HPK/GCK-like kinase|hepatocyte progenitor kinase-like/germinal center kinase-like kinase" Mitogen-activated protein kinase kinase kinase kinases 655 1999-09-07 2016-10-05 9448 ENSG00000071054 OTTHUMG00000155394 uc061mks.1 AF096300 NM_004834 "CCDS74546|CCDS56130|CCDS82487" O95819 "9890973|9734811|9135144" MGI:1349394 RGD:1305322 604666 objectId:2088 HGNC:6866 +HGNC:6867 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "KHS1|GCKR|KHS" germinal center kinase-related Mitogen-activated protein kinase kinase kinase kinases 655 1999-09-07 2016-01-15 11183 ENSG00000012983 OTTHUMG00000170888 uc001wyb.4 U77129 NM_006575 Q9Y4K4 "9038372|8274451" MGI:1925503 RGD:1562028 604923 objectId:2089 HGNC:6867 "ENST00000682126.1|NM_006575.6" +HGNC:6868 MAP6 microtubule associated protein 6 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "KIAA1878|STOP|FLJ41346|MAP6-N" 1998-02-26 2015-11-16 2015-11-16 4135 ENSG00000171533 OTTHUMG00000165343 uc001owu.4 AK123340 NM_033063 "CCDS31641|CCDS44686" Q96JE9 "10516426|12231625" MGI:1201690 RGD:61804 601783 HGNC:6868 "ENST00000304771.8|NM_033063.2" +HGNC:25753 MAP6D1 MAP6 domain containing 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "FLJ12748|SL21" STOP-Like protein 21 kD 2005-12-22 2015-01-12 79929 ENSG00000180834 OTTHUMG00000156900 uc003fmc.3 BC006434 NM_024871 CCDS3247 Q9H9H5 25526643 MGI:3607784 RGD:1560102 610593 HGNC:25753 "ENST00000318631.8|NM_024871.4" +HGNC:6869 MAP7 microtubule associated protein 7 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 E-MAP-115 ensconsin 1999-01-22 2015-11-16 2018-03-22 9053 ENSG00000135525 OTTHUMG00000015646 uc003qgz.4 X73882 NM_003980 "CCDS56453|CCDS75529|CCDS5178|CCDS75527|CCDS56454|CCDS56452|CCDS75528|CCDS56455" Q14244 8408219 MGI:1328328 RGD:1308866 604108 HGNC:6869 "ENST00000354570.8|NM_003980.6" +HGNC:56045 MAP7-AS1 MAP7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 Antisense RNAs 1987 2021-12-08 2021-12-08 123706512 ENSG00000272189 +HGNC:25514 MAP7D1 MAP7 domain containing 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ10350|FLJ39022" "PARCC1|RPRC1" "proline arginine rich coiled coil 1|arginine/proline rich coiled-coil 1" 2005-06-03 2007-02-08 2007-02-08 2014-11-18 55700 ENSG00000116871 OTTHUMG00000007714 uc001bzz.5 AK096341 NM_018067 "CCDS30673|CCDS65493|CCDS65492" Q3KQU3 10574461 MGI:2384297 RGD:1597986 HGNC:25514 "ENST00000474796.2|NM_001388490.1" +HGNC:25899 MAP7D2 MAP7 domain containing 2 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 FLJ14503 MicroRNA protein coding host genes 1691 2007-02-08 2020-04-02 256714 ENSG00000184368 OTTHUMG00000021228 uc004czr.3 BC089400 NM_152780 "CCDS55386|CCDS55384|CCDS55385|CCDS14195" Q96T17 12477932 MGI:1917474 RGD:1564852 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP7D2 HGNC:25899 "ENST00000379643.10|NM_001168465.2" +HGNC:25742 MAP7D3 MAP7 domain containing 3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 FLJ12649 2007-02-08 2020-04-02 79649 ENSG00000129680 OTTHUMG00000022507 uc011mwc.4 AL832120 NM_001173516 "CCDS55509|CCDS55508|CCDS44004" Q8IWC1 24927501 MGI:2445051 RGD:1565514 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP7D3 300930 HGNC:25742 "ENST00000316077.14|NM_024597.4" +HGNC:26118 MAP9 microtubule associated protein 9 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "ASAP|FLJ21159" aster-associated protein 2006-06-15 2015-11-16 2015-11-16 79884 ENSG00000164114 OTTHUMG00000133628 uc003ios.4 AK024812 NM_001039580 CCDS35493 Q49MG5 16049101 MGI:2442208 RGD:1560368 610070 HGNC:26118 "ENST00000311277.9|NM_001039580.2" +HGNC:56110 MAP9-AS1 MAP9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q32.1 04q32.1 Antisense RNAs 1987 2022-01-06 2022-01-06 102724776 ENSG00000250910 NR_125937 +HGNC:29265 MAP10 microtubule associated protein 10 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 MTR120 microtubule regulator 120 KDa KIAA1383 KIAA1383 2005-07-13 2013-02-12 2015-11-16 2015-11-16 54627 ENSG00000212916 OTTHUMG00000037819 uc001hvh.3 AB037804 NM_019090 CCDS44334 Q9P2G4 23264731 MGI:1921643 RGD:1308644 618551 HGNC:29265 "ENST00000418460.4|NM_019090.3" +HGNC:6871 MAPK1 mitogen-activated protein kinase 1 protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "ERK|ERK2|p41mapk|MAPK2" "PRKM2|PRKM1" Mitogen-activated protein kinases 651 1993-11-05 2021-04-13 5594 ENSG00000100030 OTTHUMG00000030508 uc002zvn.4 M84489 NM_002745 CCDS13795 P28482 MGI:1346858 RGD:70500 LRG_786|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_786.xml MAPK1 176948 159910 objectId:1495 2.7.11.1 HGNC:6871 "ENST00000215832.11|NM_002745.5" +HGNC:19840 MAPK1IP1L mitogen-activated protein kinase 1 interacting protein 1 like protein-coding gene gene with protein product Approved 14q22.3 14q22.3 C14orf32 chromosome 14 open reading frame 32 2002-11-27 2008-01-16 2016-07-01 2016-07-01 93487 ENSG00000168175 OTTHUMG00000171029 uc001xbq.2 AK025580 NM_144578 CCDS32085 Q8NDC0 12011110 MGI:2444022 RGD:1311455 617226 HGNC:19840 "ENST00000395468.9|NM_144578.4" +HGNC:6877 MAPK3 mitogen-activated protein kinase 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "ERK1|p44mapk|p44erk1" PRKM3 Mitogen-activated protein kinases 651 1993-11-05 2015-09-03 5595 ENSG00000102882 OTTHUMG00000132149 uc002dws.4 M84490 NM_001040056 "CCDS42149|CCDS42148|CCDS10672" P27361 9628824 MGI:1346859 RGD:3046 601795 objectId:1494 2.7.11.1 HGNC:6877 "ENST00000263025.9|NM_002746.3" +HGNC:6878 MAPK4 mitogen-activated protein kinase 4 protein-coding gene gene with protein product Approved 18q21.1-q21.2 18q21.1-q21.2 "Erk3-related|Erk4" PRKM4 Mitogen-activated protein kinases 651 1993-11-08 2018-02-13 5596 ENSG00000141639 OTTHUMG00000179853 uc002lev.4 X59727 NM_002747 "CCDS77188|CCDS42437|CCDS77189" P31152 8290275 MGI:2444559 RGD:3047 176949 objectId:2091 HGNC:6878 "ENST00000400384.7|NM_002747.4" +HGNC:6879 MAPK6 mitogen-activated protein kinase 6 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "ERK3|p97MAPK|HsT17250" PRKM6 Mitogen-activated protein kinases 651 1998-04-28 2016-10-05 5597 ENSG00000069956 OTTHUMG00000131891 uc002abp.4 L77964 NM_002748 CCDS10147 Q16659 8875998 MGI:1354946 RGD:62087 602904 objectId:2092 HGNC:6879 "ENST00000261845.7|NM_002748.4" +HGNC:53900 MAPK6-DT MAPK6 divergent transcript non-coding RNA RNA, long non-coding Approved 15q21.2 15q21.2 lncMAPK6 Divergent transcripts 1990 2018-05-17 2021-01-07 112543478 ENSG00000259438 NR_156732 29764463 HGNC:53900 +HGNC:18980 MAPK6P1 mitogen-activated protein kinase 6 pseudogene 1 pseudogene pseudogene Approved 8q11.23 08q11.23 Erk3ps1 MAPK6PS1 2004-04-16 2018-05-23 2018-05-23 317686 ENSG00000206144 OTTHUMG00000160523 NG_002454 12504858 PGOHUM00000303547 HGNC:18980 +HGNC:16756 MAPK6P2 mitogen-activated protein kinase 6 pseudogene 2 pseudogene pseudogene Approved 21q21.1 21q21.1 MAPK6PS2 2003-10-01 2018-05-23 2018-05-23 254664 ENSG00000223488 OTTHUMG00000078251 NG_002448 12504858 PGOHUM00000239050 HGNC:16756 +HGNC:18977 MAPK6P3 mitogen-activated protein kinase 6 pseudogene 3 pseudogene pseudogene Approved 13q14.11 13q14.11 MAPK6PS3 2004-04-16 2018-05-23 2018-05-23 317684 ENSG00000237263 OTTHUMG00000016800 NG_002453 12504858 PGOHUM00000248385 HGNC:18977 +HGNC:18456 MAPK6P4 mitogen-activated protein kinase 6 pseudogene 4 pseudogene pseudogene Approved 8q11.1 08q11.1 Erk3ps4 MAPK6PS4 2004-04-16 2018-05-23 2018-05-23 286065 ENSG00000215179 OTTHUMG00000164138 NG_002451 12504858 PGOHUM00000303187 HGNC:18456 +HGNC:18979 MAPK6P5 mitogen-activated protein kinase 6 pseudogene 5 pseudogene pseudogene Approved 8q23.1 08q23.1 MAPK6PS5 2004-04-16 2018-05-23 2018-05-23 286156 ENSG00000254185 OTTHUMG00000164935 NG_002452 12504858 PGOHUM00000303659 HGNC:18979 +HGNC:18978 MAPK6P6 mitogen-activated protein kinase 6 pseudogene 6 pseudogene pseudogene Approved 10q11.23 10q11.23 MAPK6PS6 2004-04-16 2018-05-23 2018-05-23 282967 ENSG00000226389 OTTHUMG00000018197 NG_002449 12504858 PGOHUM00000290154 HGNC:18978 +HGNC:6880 MAPK7 mitogen-activated protein kinase 7 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "BMK1|ERK5" "BMK1 kinase|extracellular-signal-regulated kinase 5" PRKM7 "Mitogen-activated protein kinases|Armadillo like helical domain containing" "651|1492" 1998-04-28 2014-11-19 5598 ENSG00000166484 OTTHUMG00000059587 uc002gvn.4 U25278 NM_139033 "CCDS11206|CCDS11207" Q13164 "10072598|7759517" MGI:1346347 RGD:621505 602521 objectId:2093 2.7.11.24 HGNC:6880 "ENST00000395604.8|NM_002749.4" +HGNC:6881 MAPK8 mitogen-activated protein kinase 8 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "JNK|JNK1|SAPK1" JUN N-terminal kinase PRKM8 Mitogen-activated protein kinases 651 1998-04-28 2016-10-05 5599 ENSG00000107643 OTTHUMG00000018172 uc001jgn.5 L26318 NM_001278547 "CCDS7224|CCDS7226|CCDS7225|CCDS60527|CCDS7223" P45983 "8137421|8654373" MGI:1346861 RGD:621506 601158 objectId:1496 2.7.11.1 HGNC:6881 "ENST00000374189.6|NM_001323329.2" +HGNC:6882 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "IB1|JIP-1|JIP1" PRKM8IP 1999-06-11 2015-08-25 9479 ENSG00000121653 OTTHUMG00000134324 uc001nbr.4 NM_005456 CCDS7916 Q9UQF2 "9235893|9442013" MGI:1309464 RGD:70937 604641 HGNC:6882 "ENST00000241014.6|NM_005456.4" HGNC:6882 +HGNC:6885 MAPK8IP1P1 mitogen-activated protein kinase 8 interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 "PRKM8IPP|MAPK8IPP" mitogen-activated protein kinase 8 interacting protein, pseudogene 1999-06-11 2016-10-23 2016-10-23 2016-10-23 644253 ENSG00000262500 OTTHUMG00000178029 NG_022469 9933567 PGOHUM00000294457 HGNC:6885 +HGNC:52402 MAPK8IP1P2 mitogen-activated protein kinase 8 interacting protein 1 pseudogene 2 pseudogene pseudogene Approved 17q21.31 17q21.31 2016-10-23 2016-10-23 644172 ENSG00000263503 OTTHUMG00000178260 NR_026901 PGOHUM00000294132 HGNC:52402 +HGNC:6883 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "IB2|JIP2" "islet-brain 2|JNK-interacting protein 2" PRKM8IPL PRKM8 interacting protein-like 1999-10-12 2014-11-18 23542 ENSG00000008735 OTTHUMG00000150181 uc032qrw.2 AL021708 NM_012324 CCDS74886 Q13387 10490659 MGI:1926555 RGD:1309727 607755 HGNC:6883 "ENST00000329492.6|NM_012324.6" +HGNC:6884 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA1066|JSAP1|JIP3|syd" homolog of Drosophila Sunday driver 2 MicroRNA protein coding host genes 1691 2000-08-22 2014-11-19 23162 ENSG00000138834 OTTHUMG00000128637 uc002cmk.4 AB028989 NM_001040439 "CCDS81929|CCDS10442|CCDS45379" Q9UPT6 "10523642|10629060" MGI:1353598 RGD:1563691 605431 HGNC:6884 "ENST00000610761.2|NM_001318852.2" HGNC:6884 +HGNC:56087 MAPK8IP3-AS1 MAPK8IP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2021-12-20 2021-12-20 101929480 ENSG00000261399 XR_243334 +HGNC:6886 MAPK9 mitogen-activated protein kinase 9 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "JNK2|p54a|SAPK" Jun kinase PRKM9 Mitogen-activated protein kinases 651 1998-04-28 2016-10-05 5601 ENSG00000050748 OTTHUMG00000130934 uc010jlc.4 U09759 NM_001135044 "CCDS4453|CCDS78103|CCDS43410|CCDS47356|CCDS4454|CCDS43409" P45984 8001819 MGI:1346862 RGD:628847 602896 objectId:1497 2.7.11.1 HGNC:6886 "ENST00000452135.7|NM_002752.5" +HGNC:6872 MAPK10 mitogen-activated protein kinase 10 protein-coding gene gene with protein product Approved 4q21.3 04q21.3 "JNK3|p493F12|p54bSAPK" PRKM10 "Mitogen-activated protein kinases|MicroRNA protein coding host genes" "651|1691" 1998-04-28 2016-10-05 5602 ENSG00000109339 OTTHUMG00000130604 uc003hpr.4 U07620 NM_001318067 "CCDS34026|CCDS87241|CCDS87243|CCDS43247|CCDS3612|CCDS87242" P53779 "8654373|12436199" MGI:1346863 RGD:3663 602897 248276 objectId:1498 2.7.11.1 HGNC:6872 "ENST00000641462.2|NM_138982.4" HGNC:6872 +HGNC:40359 MAPK10-AS1 MAPK10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.3 04q21.3 Antisense RNAs 1987 2019-08-16 2019-08-16 101929064 ENSG00000250062 OTTHUMG00000161054 NR_110879 HGNC:40359 +HGNC:6873 MAPK11 mitogen-activated protein kinase 11 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "p38-2|p38Beta|SAPK2" PRKM11 Mitogen-activated protein kinases 651 1998-04-28 2015-08-25 5600 ENSG00000185386 OTTHUMG00000150226 uc003bkr.4 Y14440 NM_002751 CCDS14090 Q15759 9218798 MGI:1338024 RGD:1309340 602898 objectId:1500 2.7.11.1 HGNC:6873 "ENST00000330651.11|NM_002751.7" +HGNC:6874 MAPK12 mitogen-activated protein kinase 12 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "ERK6|PRKM12|p38gamma|SAPK-3" SAPK3 Mitogen-activated protein kinases 651 1998-04-28 2016-10-05 6300 ENSG00000188130 OTTHUMG00000030145 uc003bkm.2 U66243 NM_002969 "CCDS14089|CCDS77688" P53778 9169156 MGI:1353438 RGD:70975 602399 objectId:1501 2.7.11.1 HGNC:6874 "ENST00000215659.13|NM_002969.6" +HGNC:6875 MAPK13 mitogen-activated protein kinase 13 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "SAPK4|p38delta" PRKM13 Mitogen-activated protein kinases 651 1998-04-28 2016-10-05 5603 ENSG00000156711 OTTHUMG00000014587 uc003ols.5 Y10488 NM_002754 CCDS4818 O15264 "9295308|9218798" MGI:1346864 RGD:3045 602899 objectId:1502 2.7.11.1 HGNC:6875 "ENST00000211287.9|NM_002754.5" +HGNC:6876 MAPK14 mitogen-activated protein kinase 14 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "PRKM14|p38|Mxi2|PRKM15" p38 MAP kinase "CSPB1|CSBP1|CSBP2" Mitogen-activated protein kinases 651 1995-01-24 2016-10-05 1432 ENSG00000112062 OTTHUMG00000159806 uc003olp.4 L35263 NM_001315 "CCDS4817|CCDS4815|CCDS4816" Q16539 7997261 MGI:1346865 RGD:70496 600289 objectId:1499 HGNC:6876 "ENST00000229794.9|NM_139012.3" +HGNC:24667 MAPK15 mitogen-activated protein kinase 15 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "ERK8|ERK7" extracellular signal regulated kinase 8 Mitogen-activated protein kinases 651 2005-04-05 2014-11-18 225689 ENSG00000181085 OTTHUMG00000146450 uc003yzj.4 AY065978 NM_139021 CCDS6409 Q8TD08 11875070 MGI:2652894 RGD:628675 618616 objectId:2090 HGNC:24667 "ENST00000338033.9|NM_139021.3" +HGNC:18752 MAPKAP1 MAPK associated protein 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "MGC2745|SIN1|MIP1" stress-activated protein kinase-interacting 1 mitogen-activated protein kinase associated protein 1 MTOR complex 2 1333 2002-07-19 2019-04-12 2019-04-12 79109 ENSG00000119487 OTTHUMG00000020683 uc004bpv.3 M37191 NM_001006617 "CCDS35140|CCDS35141|CCDS48020|CCDS6864|CCDS35139" Q9BPZ7 15363842 MGI:2444554 RGD:1305363 610558 HGNC:18752 "ENST00000265960.8|NM_001006617.3" +HGNC:6887 MAPKAPK2 MAPK activated protein kinase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 MK2 mitogen-activated protein kinase-activated protein kinase 2 MAPK activated protein kinases 1156 1999-03-26 2019-04-12 2019-10-01 9261 ENSG00000162889 OTTHUMG00000036342 uc001hem.3 U12779 NM_004759 "CCDS1466|CCDS31001" P49137 "8179591|8280084" MGI:109298 RGD:631362 602006 objectId:2094 HGNC:6887 "ENST00000367103.4|NM_032960.4" +HGNC:6888 MAPKAPK3 MAPK activated protein kinase 3 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "3pK|MAPKAP3|3PK|MK-3|MK3" mitogen-activated protein kinase-activated protein kinase 3 MAPK activated protein kinases 1156 1999-03-26 2019-04-12 2021-05-26 7867 ENSG00000114738 OTTHUMG00000156850 uc003day.3 U43784 NM_004635 CCDS2832 Q16644 "8626550|8622688" MGI:2143163 RGD:1304980 602130 477107 objectId:2095 HGNC:6888 "ENST00000621469.5|NM_001243925.2" HGNC:6888 +HGNC:6889 MAPKAPK5 MAPK activated protein kinase 5 protein-coding gene gene with protein product Approved 12q24.12-q24.13 12q24.12-q24.13 "PRAK|MK5" mitogen-activated protein kinase-activated protein kinase 5 MAPK activated protein kinases 1156 1999-03-26 2019-04-12 2019-10-01 8550 ENSG00000089022 OTTHUMG00000169605 uc001tta.5 AF032437 NM_139078 "CCDS44976|CCDS44975" Q8IW41 9628874 MGI:1333110 RGD:1564113 606723 objectId:2096 HGNC:6889 "ENST00000550735.7|NM_003668.4" +HGNC:24091 MAPKAPK5-AS1 MAPKAPK5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.12 12q24.12 FLJ39616 C12orf47 "chromosome 12 open reading frame 47|MAPKAPK5 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2006-01-23 2012-05-30 2012-08-15 2012-10-12 51275 ENSG00000234608 OTTHUMG00000141273 uc001tsy.3 NR_015404 Q8N8E1 12477932 MAPKAPK5-AS1 HGNC:24091 +HGNC:45246 MAPKAPK5P1 MAPKAPK5 pseudogene 1 pseudogene pseudogene Approved 10q25.1 10q25.1 mitogen-activated protein kinase-activated protein kinase 5 pseudogene 1 2013-03-11 2019-04-12 2019-04-12 100533849 ENSG00000224498 OTTHUMG00000019023 NG_028758 PGOHUM00000238913 HGNC:45246 +HGNC:29536 MAPKBP1 mitogen-activated protein kinase binding protein 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "KIAA0596|NPHP20" mitogen activated protein kinase binding protein 1 WD repeat domain containing 362 2005-07-21 2008-01-30 2021-05-26 23005 ENSG00000137802 OTTHUMG00000160227 uc001zoj.4 AB011168 NM_014994 "CCDS58359|CCDS45239|CCDS32201" O60336 "9628581|10471813" MGI:1347004 RGD:1307578 616786 HGNC:29536 "ENST00000457542.7|NM_014994.3" HGNC:29536 +HGNC:6890 MAPRE1 microtubule associated protein RP/EB family member 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 EB1 adenomatous polyposis coli-binding protein EB1 Microtubule associated protein RP/EB family 1826 1999-12-14 2015-11-16 2016-10-05 22919 ENSG00000101367 OTTHUMG00000032228 uc002wyh.3 U24166 NM_012325 CCDS13208 Q15691 "7606712|9724749|11470413" MGI:891995 RGD:621781 603108 HGNC:6890 "ENST00000375571.6|NM_012325.3" +HGNC:29624 MAPRE1P1 MAPRE1 pseudogene 1 pseudogene pseudogene Approved 8q24.23 08q24.23 MAPRE1P MAPRE1 pseudogene 2009-06-17 2010-02-16 2010-02-16 2021-03-17 80327 ENSG00000253915 OTTHUMG00000164123 AF288786 NG_002682 11161807 PGOHUM00000303382 HGNC:29624 +HGNC:37761 MAPRE1P2 MAPRE1 pseudogene 2 pseudogene pseudogene Approved 4p15.1 04p15.1 2010-02-16 2020-04-06 642305 ENSG00000250076 OTTHUMG00000160348 NG_028945 PGOHUM00000245494 HGNC:37761 +HGNC:37762 MAPRE1P3 MAPRE1 pseudogene 3 pseudogene pseudogene Approved 2q24.3 02q24.3 2010-02-16 2014-11-19 100422229 ENSG00000233204 OTTHUMG00000153998 NG_031906 PGOHUM00000241008 HGNC:37762 +HGNC:6891 MAPRE2 microtubule associated protein RP/EB family member 2 protein-coding gene gene with protein product Approved 18q12.1-q12.2 18q12.1-q12.2 "RP1|EB1|EB2" APC-binding protein EB1 Microtubule associated protein RP/EB family 1826 1999-12-14 2015-11-16 2021-05-26 10982 ENSG00000166974 OTTHUMG00000132551 uc002kyg.5 X94232 NM_014268 "CCDS58619|CCDS45850|CCDS11910|CCDS45851" Q15555 "9233623|12475954" MGI:106271 RGD:1590736 605789 448342 HGNC:6891 "ENST00000300249.10|NM_014268.4" HGNC:6891 +HGNC:6892 MAPRE3 microtubule associated protein RP/EB family member 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "RP3|EB3" Microtubule associated protein RP/EB family 1826 1999-12-14 2015-11-16 2016-10-05 22924 ENSG00000084764 OTTHUMG00000097067 uc002rhw.4 Y11174 NM_012326 CCDS1731 Q9UPY8 9233623 MGI:2140967 RGD:1359297 605788 HGNC:6892 "ENST00000233121.7|NM_012326.4" +HGNC:40362 MAPRE3-AS1 MAPRE3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p23.3 02p23.3 Antisense RNAs 1987 2019-08-16 2019-08-16 100129724 ENSG00000205500 OTTHUMG00000151998 NR_149018 HGNC:40362 +HGNC:6893 MAPT microtubule associated protein tau protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MTBT1|tau|PPND|FTDP-17|TAU|MSTD|MTBT2|FLJ31424|MGC138549|PPP1R103|tau-40" "G protein beta1/gamma2 subunit-interacting factor 1|microtubule-associated protein tau, isoform 4|protein phosphatase 1, regulatory subunit 103" "DDPAC|MAPTL" Protein phosphatase 1 regulatory subunits 694 2001-06-22 2015-11-16 2021-04-13 4137 ENSG00000186868 OTTHUMG00000168833 uc010dau.4 J03778 NM_016835 "CCDS45715|CCDS11499|CCDS56033|CCDS11501|CCDS11502|CCDS11500|CCDS45716" P10636 "7936241|3131773" MGI:97180 RGD:69329 "Alzheimer Disease & Frontotemporal Dementia Mutation Database|http://www.molgen.ua.ac.be/FTDMutations/|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_660|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_660.xml" 157140 123144 ligandId:9275 HGNC:6893 "ENST00000262410.10|NM_001377265.1" HGNC:6893 +HGNC:43738 MAPT-AS1 MAPT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 MAPT antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-17 2012-08-15 2016-10-03 100128977 ENSG00000264589 OTTHUMG00000178246 uc284ojc.1 NR_024559 27336847 MAPT-AS1 HGNC:43738 +HGNC:43741 MAPT-IT1 MAPT intronic transcript 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 MAPT intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2012-02-20 2015-02-25 2015-02-25 100130148 ENSG00000279685 OTTHUMG00000177993 uc002ijw.5 NR_024560 MAPT-IT1 HGNC:43741 +HGNC:26077 MARCHF1 membrane associated ring-CH-type finger 1 protein-coding gene gene with protein product Approved 4q32.2-q32.3 04q32.2-q32.3 "FLJ20668|MARCH-I|RNF171" MARCH1 "membrane-associated ring finger (C3HC4) 1|membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2019-08-14 55016 ENSG00000145416 OTTHUMG00000161204 uc003iqs.3 AK000675 NM_017923 "CCDS54814|CCDS3806" Q8TCQ1 14722266 MGI:1920175 RGD:1305148 613331 HGNC:26077 "ENST00000514618.6|NM_001394959.1" +HGNC:28038 MARCHF2 membrane associated ring-CH-type finger 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HSPC240|MARCH-II|RNF172" MARCH2 "membrane-associated ring finger (C3HC4) 2|membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2020-04-01 51257 ENSG00000099785 OTTHUMG00000182282 uc002mjw.4 AF151074 NM_016496 "CCDS12202|CCDS32894" Q9P0N8 "11042152|14722266" MGI:1925915 RGD:1306395 613332 HGNC:28038 "ENST00000215555.7|NM_001005415.2" +HGNC:28728 MARCHF3 membrane associated ring-CH-type finger 3 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "MGC48332|MARCH-III|RNF173" MARCH3 "membrane-associated ring finger (C3HC4) 3|membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2019-08-14 115123 ENSG00000173926 OTTHUMG00000128968 uc003kuf.4 AF055007 NM_178450 CCDS4141 Q86UD3 "14722266|8619474" MGI:2443667 RGD:1359308 613333 HGNC:28728 "ENST00000308660.6|NM_178450.5" +HGNC:29269 MARCHF4 membrane associated ring-CH-type finger 4 protein-coding gene gene with protein product Approved 2q35 02q35 "KIAA1399|MARCH-IV|RNF174" MARCH4 "membrane-associated ring finger (C3HC4) 4|membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2019-08-14 57574 ENSG00000144583 OTTHUMG00000154824 uc002vgb.4 AB037820 NM_020814 CCDS33376 Q9P2E8 "10718198|14722266" MGI:2683550 RGD:1590797 608208 HGNC:29269 "ENST00000273067.5|NM_020814.3" +HGNC:26025 MARCHF5 membrane associated ring-CH-type finger 5 protein-coding gene gene with protein product Approved 10q23.32-q23.33 10q23.32-q23.33 "FLJ20445|MARCH-V|MITOL" mitochondrial ubiquitin ligase "RNF153|MARCH5" "ring finger protein 153|membrane-associated ring finger (C3HC4) 5" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2004-05-27 2019-07-09 2015-11-26 2019-08-14 54708 ENSG00000198060 OTTHUMG00000018757 uc001khx.1 BC015480 NM_017824 CCDS7420 Q9NX47 14722266 MGI:1915207 RGD:1305617 610637 470632 HGNC:26025 "ENST00000358935.3|NM_017824.5" +HGNC:30550 MARCHF6 membrane associated ring-CH-type finger 6 protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "TEB4|MARCH-VI|RNF176" MARCH6 "membrane-associated ring finger (C3HC4) 6|membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2019-08-14 10299 ENSG00000145495 OTTHUMG00000162027 uc003jet.3 AB011169 NM_005885 "CCDS59487|CCDS34135|CCDS59488" O60337 14722266 MGI:2442773 RGD:1565757 613297 HGNC:30550 "ENST00000274140.10|NM_005885.4" HGNC:30550 +HGNC:17393 MARCHF7 membrane associated ring-CH-type finger 7 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "MARCH-VII|RNF177" "AXOT|MARCH7" "axotrophin|membrane-associated ring finger (C3HC4) 7|membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2001-12-17 2019-07-09 2015-11-26 2019-08-14 64844 ENSG00000136536 OTTHUMG00000132029 uc002uax.5 AK022973 NM_022826 "CCDS2210|CCDS63039|CCDS63038" Q9H992 14722266 MGI:1931053 RGD:1308993 613334 HGNC:17393 "ENST00000409175.6|NM_001282805.2" +HGNC:23356 MARCHF8 membrane associated ring-CH-type finger 8 protein-coding gene gene with protein product Approved 10q11.21-q11.22 10q11.21-q11.22 "c-MIR|CMIR|MARCH-VIII|RNF178" "MIR|MARCH8" "c-mir, cellular modulator of immune recognition|membrane-associated ring finger (C3HC4) 8|membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2003-11-12 2019-07-09 2015-11-26 2019-08-14 220972 ENSG00000165406 OTTHUMG00000019345 uc001jck.3 AL833316 NM_145021 "CCDS60519|CCDS7213" Q5T0T0 "12582153|14722266" MGI:1919029 RGD:1309339 613335 HGNC:23356 "ENST00000453424.7|NM_001282866.2" +HGNC:25139 MARCHF9 membrane associated ring-CH-type finger 9 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "RNF179|FLJ36578" MARCH9 membrane-associated ring finger (C3HC4) 9 "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-01-26 2019-07-09 2015-11-26 2020-04-01 92979 ENSG00000139266 OTTHUMG00000170456 uc001spx.3 BC009489 NM_138396 CCDS31847 Q86YJ5 14722266 MGI:2446144 RGD:1590688 613336 HGNC:25139 "ENST00000266643.6|NM_138396.6" +HGNC:26655 MARCHF10 membrane associated ring-CH-type finger 10 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "FLJ35757|MARCH-X" "RNF190|MARCH10" "ring finger protein 190|membrane-associated ring finger (C3HC4) 10|membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase" "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2005-08-19 2019-07-09 2015-11-26 2020-04-01 162333 ENSG00000173838 OTTHUMG00000179192 uc002jag.6 AK093076 NM_152598 "CCDS74123|CCDS11635|CCDS74122" Q8NA82 17604280 MGI:2443469 RGD:1311692 613337 HGNC:26655 "ENST00000311269.10|NM_152598.4" +HGNC:52815 MARCHF10-DT MARCHF10 divergent transcript non-coding RNA RNA, long non-coding Approved 17q23.2 17q23.2 MARCH10-DT MARCH10 divergent transcript Divergent transcripts 1990 2019-06-14 2019-07-09 2019-08-02 2019-08-14 101927877 ENSG00000265000 OTTHUMG00000179193 NR_135634 HGNC:52815 +HGNC:33609 MARCHF11 membrane associated ring-CH-type finger 11 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "MARCH-XI|RNF226" MARCH11 membrane-associated ring finger (C3HC4) 11 "Ring finger proteins|Membrane associated ring-CH-type fingers" "58|60" 2007-08-20 2019-07-09 2015-11-26 2019-08-14 441061 ENSG00000183654 OTTHUMG00000161789 uc003jfo.3 BC150513 NM_001102562 CCDS47192 A6NNE9 17604280 MGI:3608327 RGD:1559945 613338 HGNC:33609 "ENST00000332432.9|NM_001102562.3" +HGNC:41287 MARCHF11-AS1 MARCHF11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 MARCH11-AS1 MARCH11 antisense RNA 1 Antisense RNAs 1987 2019-08-16 2019-09-19 2019-09-19 2019-09-19 107986407 ENSG00000250981 OTTHUMG00000161791 XR_001742612 HGNC:41287 +HGNC:55550 MARCHF11-DT MARCHF11 divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 Divergent transcripts 1990 2021-03-25 2021-03-25 401176 ENSG00000250448 NR_149044 +HGNC:6759 MARCKS myristoylated alanine rich protein kinase C substrate protein-coding gene gene with protein product Approved 6q21 06q21 "PKCSL|80K-L" MACS myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L) 1990-01-05 2001-12-20 2016-01-29 2016-06-03 4082 ENSG00000277443 OTTHUMG00000188327 uc032xir.2 M68956 NM_002356 CCDS5101 P29966 "1560845|8420923" MGI:96907 RGD:3028 177061 HGNC:6759 "ENST00000612661.2|NM_002356.7" +HGNC:7142 MARCKSL1 MARCKS like 1 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "F52|MacMARCKS|MLP1" MLP MARCKS-like protein 1996-04-12 2004-11-17 2016-06-03 2016-06-03 65108 ENSG00000175130 OTTHUMG00000007589 uc001bvd.5 AF031640 NM_023009 CCDS361 P49006 9598313 MGI:97143 RGD:621197 602940 HGNC:7142 "ENST00000329421.8|NM_023009.7" +HGNC:45239 MARCKSL1P1 MARCKS like 1 pseudogene 1 pseudogene pseudogene Approved 10q24.33 10q24.33 2013-03-11 2016-06-03 2016-06-03 100913183 ENSG00000213277 OTTHUMG00000018978 NG_032812 PGOHUM00000238908 HGNC:45239 +HGNC:45240 MARCKSL1P2 MARCKS like 1 pseudogene 2 pseudogene pseudogene Approved 6q24.1 06q24.1 2013-03-11 2016-06-03 2016-10-05 100913182 ENSG00000215878 OTTHUMG00000015672 NG_032810 PGOHUM00000243394 HGNC:45240 +HGNC:6760 MARCKSP1 myristoylated alanine rich protein kinase C substrate pseudogene 1 pseudogene pseudogene Approved 21q21.3 21q21.3 MACSL1 myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)-like 1 1991-09-13 2010-10-15 2016-06-03 2016-06-03 4083 NG_007487 1427823 HGNC:6760 +HGNC:6895 MARCO macrophage receptor with collagenous structure protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "SCARA2|SR-A6" scavenger receptor class A, member 2 "Scavenger receptors|Scavenger receptor cysteine rich domain containing" "1253|1404" 1998-11-26 2017-02-28 8685 ENSG00000019169 OTTHUMG00000131400 uc002tln.2 AF035819 NM_006770 CCDS2124 Q9UEW3 "9468508|7867067|10331948" MGI:1309998 RGD:1589662 604870 HGNC:6895 "ENST00000327097.5|NM_006770.4" +HGNC:53644 MARCOL MARCO like protein-coding gene gene with protein product Approved 5q32 05q32 2017-08-10 2017-08-14 105378220 ENSG00000248109 OTTHUMG00000163424 NM_001363511 CCDS87333 A0A1B0GUY1 HGNC:53644 "ENST00000638089.2|NM_001363511.2" +HGNC:29562 MARF1 meiosis regulator and mRNA stability factor 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "LKAP|PPP1R34|LMKB" "limkain b1|protein phosphatase 1, regulatory subunit 34|meiosis arrest female 1" KIAA0430 KIAA0430 "Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "694|1691" 2006-06-27 2017-03-17 2017-03-17 2020-05-04 9665 ENSG00000166783 OTTHUMG00000129884 uc002ddr.4 AB007890 NM_014647 "CCDS53990|CCDS10562|CCDS55991" Q9Y4F3 "9455477|10493829|15932519|22442484|23090997" MGI:2444505 RGD:619770 614593 HGNC:29562 "ENST00000396368.8|NM_014647.4" +HGNC:6896 MARK1 microtubule affinity regulating kinase 1 protein-coding gene gene with protein product Approved 1q41 01q41 "MARK|PAR-1C" MAP/microtubule affinity-regulating kinase 1 1997-10-27 2016-02-10 2016-02-10 4139 ENSG00000116141 OTTHUMG00000037351 uc001hmn.6 AF154845 NM_001286124 "CCDS73034|CCDS73033|CCDS31029|CCDS65789" Q9P0L2 9108484 MGI:2664902 RGD:619882 606511 objectId:2097 HGNC:6896 "ENST00000366917.6|NM_018650.5" +HGNC:3332 MARK2 microtubule affinity regulating kinase 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "PAR-1|Par1b|PAR-1B" "ELKL motif kinase 1|serine/threonine kinase|protein-serine/threonine kinase|Ser/Thr protein kinase PAR-1B" EMK1 "ELKL motif kinase|MAP/microtubule affinity-regulating kinase 2" 1994-12-08 2002-08-01 2016-02-10 2016-04-25 2011 ENSG00000072518 OTTHUMG00000160504 uc058crx.1 BC008771 NM_017490 "CCDS53649|CCDS8051|CCDS53651|CCDS53650|CCDS41665" Q7KZI7 "9730619|10516437" MGI:99638 RGD:708483 600526 objectId:2098 HGNC:3332 "ENST00000402010.8|NM_001039469.3" +HGNC:39792 MARK2P1 microtubule affinity regulating kinase 2 pseudogene 1 pseudogene pseudogene Approved 3p25.3 03p25.3 MAP/microtubule affinity-regulating kinase 2 pseudogene 1 2011-03-29 2016-02-10 2016-02-10 100421501 NG_025672 PGOHUM00000237930 HGNC:39792 +HGNC:39793 MARK2P2 microtubule affinity regulating kinase 2 pseudogene 2 pseudogene pseudogene Approved 3p25.3 03p25.3 MAP/microtubule affinity-regulating kinase 2 pseudogene 2 2011-03-29 2016-02-10 2016-02-10 100421502 NG_025674 PGOHUM00000237933 HGNC:39793 +HGNC:39794 MARK2P3 microtubule affinity regulating kinase 2 pseudogene 3 pseudogene pseudogene Approved 3q21.3 03q21.3 MAP/microtubule affinity-regulating kinase 2 pseudogene 3 2011-03-29 2016-02-10 2016-02-10 100421507 NG_025740 PGOHUM00000238178 HGNC:39794 +HGNC:39795 MARK2P4 microtubule affinity regulating kinase 2 pseudogene 4 pseudogene pseudogene Approved 4q34.2 04q34.2 MAP/microtubule affinity-regulating kinase 2 pseudogene 4 2011-03-29 2016-02-10 2016-02-10 100421496 ENSG00000250372 OTTHUMG00000160790 NG_025187 PGOHUM00000245776 HGNC:39795 +HGNC:39796 MARK2P5 microtubule affinity regulating kinase 2 pseudogene 5 pseudogene pseudogene Approved 5p15.1 05p15.1 MAP/microtubule affinity-regulating kinase 2 pseudogene 5 2011-03-29 2016-02-10 2016-02-10 100421485 ENSG00000248834 OTTHUMG00000161794 NG_024655 HGNC:39796 +HGNC:39797 MARK2P6 microtubule affinity regulating kinase 2 pseudogene 6 pseudogene pseudogene Approved 3q21.3 03q21.3 MAP/microtubule affinity-regulating kinase 2 pseudogene 6 2011-03-29 2016-02-10 2016-02-10 100421500 ENSG00000242062 OTTHUMG00000159807 NG_025623 PGOHUM00000237762 HGNC:39797 +HGNC:39798 MARK2P7 microtubule affinity regulating kinase 2 pseudogene 7 pseudogene pseudogene Approved 7p14.2 07p14.2 MAP/microtubule affinity-regulating kinase 2 pseudogene 7 2011-03-29 2016-02-10 2016-02-10 100421531 NG_026553 PGOHUM00000233183 HGNC:39798 +HGNC:39799 MARK2P8 microtubule affinity regulating kinase 2 pseudogene 8 pseudogene pseudogene Approved 3q21.3 03q21.3 MAP/microtubule affinity-regulating kinase 2 pseudogene 8 2011-03-29 2016-02-10 2016-02-10 100421498 ENSG00000239503 OTTHUMG00000159814 NG_025620 PGOHUM00000237757 HGNC:39799 +HGNC:39800 MARK2P9 microtubule affinity regulating kinase 2 pseudogene 9 pseudogene pseudogene Approved 10q23.33 10q23.33 MAP/microtubule affinity-regulating kinase 2 pseudogene 9 2011-03-29 2016-02-10 2016-02-10 100507674 ENSG00000232709 OTTHUMG00000018758 NR_038243 PGOHUM00000238891 HGNC:39800 +HGNC:39801 MARK2P10 microtubule affinity regulating kinase 2 pseudogene 10 pseudogene pseudogene Approved 7q21.3 07q21.3 MAP/microtubule affinity-regulating kinase 2 pseudogene 10 2011-03-29 2016-02-10 2016-02-10 402679 ENSG00000227284 OTTHUMG00000154199 NG_023195 PGOHUM00000233482 HGNC:39801 +HGNC:39802 MARK2P11 microtubule affinity regulating kinase 2 pseudogene 11 pseudogene pseudogene Approved 5q33.3 05q33.3 MAP/microtubule affinity-regulating kinase 2 pseudogene 11 2011-03-29 2016-02-10 2020-04-20 100421484 ENSG00000253743 OTTHUMG00000163529 NG_024636 PGOHUM00000235439 HGNC:39802 +HGNC:39803 MARK2P12 microtubule affinity regulating kinase 2 pseudogene 12 pseudogene pseudogene Approved 13q22.1 13q22.1 MAP/microtubule affinity-regulating kinase 2 pseudogene 12 2011-03-29 2016-02-10 2016-02-10 100421565 ENSG00000229708 OTTHUMG00000017075 NG_024868 PGOHUM00000248437 HGNC:39803 +HGNC:39804 MARK2P13 microtubule affinity regulating kinase 2 pseudogene 13 pseudogene pseudogene Approved 7p14.2 07p14.2 MAP/microtubule affinity-regulating kinase 2 pseudogene 13 2011-03-29 2016-02-10 2016-02-10 100631260 ENSG00000228815 OTTHUMG00000155059 NG_029259 PGOHUM00000232652 HGNC:39804 +HGNC:44495 MARK2P14 microtubule affinity regulating kinase 2 pseudogene 14 pseudogene pseudogene Approved 3p25.2 03p25.2 MAP/microtubule affinity-regulating kinase 2 pseudogene 14 2012-11-12 2016-02-10 2016-02-10 100631261 ENSG00000231897 OTTHUMG00000155297 NG_029270 PGOHUM00000237938 HGNC:44495 +HGNC:45119 MARK2P15 microtubule affinity regulating kinase 2 pseudogene 15 pseudogene pseudogene Approved 10q23.1 10q23.1 MAP/microtubule affinity-regulating kinase 2 pseudogene 15 2013-02-15 2016-02-10 2016-02-10 100533794 ENSG00000234931 OTTHUMG00000018627 NG_028751 PGOHUM00000264182 HGNC:45119 +HGNC:45171 MARK2P16 microtubule affinity regulating kinase 2 pseudogene 16 pseudogene pseudogene Approved 10q23.31 10q23.31 MAP/microtubule affinity-regulating kinase 2 pseudogene 16 2013-03-01 2016-02-10 2016-08-16 100533795 ENSG00000270670 OTTHUMG00000184689 NG_028752 PGOHUM00000289947 HGNC:45171 +HGNC:50318 MARK2P17 microtubule affinity regulating kinase 2 pseudogene 17 pseudogene pseudogene Approved 3q21.3 03q21.3 MAP/microtubule affinity-regulating kinase 2 pseudogene 17 2014-04-07 2016-02-10 2016-02-10 100421499 ENSG00000244065 OTTHUMG00000159809 NG_025622 PGOHUM00000237760 HGNC:50318 +HGNC:6897 MARK3 microtubule affinity regulating kinase 3 protein-coding gene gene with protein product Approved 14q32.32-q32.33 14q32.32-q32.33 "CTAK1|KP78|PAR-1A" MAP/microtubule affinity-regulating kinase 3 1997-10-27 2016-02-10 2018-02-13 4140 ENSG00000075413 OTTHUMG00000171789 uc001ymw.5 M80359 NM_001128918 "CCDS45166|CCDS41993|CCDS45165|CCDS55947|CCDS45167" P27448 9533022 MGI:1341865 RGD:619883 602678 objectId:2099 HGNC:6897 "ENST00000429436.7|NM_001128918.3" HGNC:6897 +HGNC:50312 MARK3P1 microtubule affinity regulating kinase 3 pseudogene 1 pseudogene pseudogene Approved 12q13.11 12q13.11 MAP/microtubule affinity-regulating kinase 3 pseudogene 1 2014-04-07 2016-02-10 2017-03-22 100421550 ENSG00000271642 OTTHUMG00000184790 NG_024005 PGOHUM00000291320 HGNC:50312 +HGNC:50313 MARK3P2 microtubule affinity regulating kinase 3 pseudogene 2 pseudogene pseudogene Approved 3p25.2 03p25.2 MAP/microtubule affinity-regulating kinase 3 pseudogene 2 2014-04-07 2016-02-10 2016-02-10 100421503 NG_025676 PGOHUM00000261899 HGNC:50313 +HGNC:50314 MARK3P3 microtubule affinity regulating kinase 3 pseudogene 3 pseudogene pseudogene Approved 3q21.3 03q21.3 MAP/microtubule affinity-regulating kinase 3 pseudogene 3 2014-04-07 2016-02-10 2016-02-10 100533754 ENSG00000243022 OTTHUMG00000159810 NG_028736 PGOHUM00000237761 HGNC:50314 +HGNC:13538 MARK4 microtubule affinity regulating kinase 4 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "Nbla00650|FLJ90097|KIAA1860|PAR-1D" MARKL1 "MAP/microtubule affinity-regulating kinase like 1|MAP/microtubule affinity-regulating kinase 4" 2000-09-25 2002-06-14 2016-02-10 2016-02-10 57787 ENSG00000007047 OTTHUMG00000181769 uc002pbb.3 AB049127 NM_031417 "CCDS56097|CCDS12658" Q96L34 "23400999|11326310|9108484" MGI:1920955 RGD:1591792 606495 objectId:2100 2.7.11.1 HGNC:13538 "ENST00000262891.9|NM_001199867.2" +HGNC:6898 MARS1 methionyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "MetRS|SPG70|CMT2U" methionine tRNA ligase 1, cytoplasmic MARS methionyl-tRNA synthetase "Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes" "131|1691" 2001-06-22 2019-07-15 2019-07-15 2019-07-15 4141 ENSG00000166986 OTTHUMG00000169996 uc001sog.4 X94754 NM_004990 CCDS8942 P56192 "10448063|24482476" MGI:1345633 RGD:1305321 156560 376898 6.1.1.10 HGNC:6898 "ENST00000262027.10|NM_004990.4" HGNC:6898 +HGNC:25133 MARS2 methionyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "mtMetRS|SPAX3" methionine tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 2004-12-02 2007-02-26 2021-05-26 92935 ENSG00000247626 OTTHUMG00000154487 uc002uuq.4 BC009115 NM_138395 CCDS33358 Q96GW9 15274629 MGI:2444136 RGD:1311527 609728 317667 6.1.1.10 HGNC:25133 "ENST00000282276.8|NM_138395.4" HGNC:25133 +HGNC:28674 MARVELD1 MARVEL domain containing 1 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "MGC4415|GB14|FLJ23440|FLJ22343|bA548K23.8" occludin MRVLDC1 MARVEL (membrane-associating) domain containing 1 MARVEL domain containing 1626 2004-03-05 2004-07-12 2004-07-12 2020-08-17 83742 ENSG00000155254 OTTHUMG00000018865 uc001koj.5 BC004995 NM_031484 Q9BSK0 "19364627|21347699" MGI:2147570 RGD:1309811 616970 HGNC:28674 "ENST00000285605.8|NM_031484.4" +HGNC:26401 MARVELD2 MARVEL domain containing 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "FLJ30532|TRIC" tricellulin "MRVLDC2|DFNB49" "MARVEL (membrane-associating) domain containing 2|deafness, autosomal recessive 49" MARVEL domain containing 1626 2004-03-15 2004-07-14 2004-07-12 2021-04-13 153562 ENSG00000152939 OTTHUMG00000162512 uc003jwq.4 AK055094 NM_144724 "CCDS58956|CCDS34175" Q8N4S9 17186462 MGI:2446166 RGD:1306909 LRG_1380|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1380.xml 610572 160288 HGNC:26401 "ENST00000325631.10|NM_001038603.3" HGNC:26401 +HGNC:30525 MARVELD3 MARVEL domain containing 3 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 MRVLDC3 MARVEL (membrane-associating) domain containing 3 MARVEL domain containing 1626 2004-03-15 2004-07-14 2004-07-12 2021-12-07 91862 ENSG00000140832 OTTHUMG00000137591 uc002fat.5 BC013376 NM_052858 "CCDS10904|CCDS59270|CCDS32478" Q96A59 20028514 MGI:1920858 RGD:1562056 614094 HGNC:30525 "ENST00000268485.8|NM_052858.6" +HGNC:6899 MAS1 MAS1 proto-oncogene, G protein-coupled receptor protein-coding gene gene with protein product Approved 6q25.3 06q25.3 MAS1 oncogene G protein-coupled receptors, Class A orphans 262 1988-07-04 2014-06-26 2016-10-05 4142 ENSG00000130368 OTTHUMG00000015944 uc003qsz.4 M13150 NM_002377 CCDS5272 P04201 MGI:96918 RGD:3049 165180 objectId:150 HGNC:6899 "ENST00000674077.2|NM_002377.4" +HGNC:13961 MAS1L MAS1 proto-oncogene like, G protein-coupled receptor protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "MAS-L|MRG|dJ994E9.2" MAS1 oncogene-like G protein-coupled receptors, Class A orphans 262 2002-11-18 2014-06-26 2015-09-03 116511 ENSG00000204687 OTTHUMG00000031089 uc011dlq.3 S78653 NM_052967 CCDS4661 P35410 RGD:738049 607235 objectId:151 HGNC:13961 "ENST00000377127.4|NM_052967.2" +HGNC:33448 MAS1LP1 MAS1L pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 OTTHUMG00000086553 MAS1LP "MAS1 oncogene-like pseudogene|MAS1 oncogene-like pseudogene 1" 2007-05-01 2010-02-25 2014-06-26 2014-11-19 646366 ENSG00000230164 OTTHUMG00000086553 NG_009738 PGOHUM00000243120 HGNC:33448 +HGNC:6901 MASP1 MBL associated serine protease 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "MASP|Map44|MASP-3|MAP-1" "C4/C2 activating component of Ra-reactive factor|mannose-binding lectin-associated serine protease 1" "CRARF|PRSS5" "mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)|mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)|mannan binding lectin serine peptidase 1" "Serine proteases|Sushi domain containing|Complement system activation components" "738|1179|1638" 1995-07-06 2021-02-11 2021-05-26 5648 ENSG00000127241 OTTHUMG00000156461 uc003frh.3 D28593 NM_001879 "CCDS33907|CCDS33908|CCDS33909" P48740 "8018603|8240317" MGI:88492 RGD:620213 LRG_349|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_349.xml 600521 252117 HGNC:6901 "ENST00000296280.11|NM_139125.4" HGNC:6901 +HGNC:6902 MASP2 MBL associated serine protease 2 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "Map19|sMAP|MAP-2" "mannose-binding lectin-associated serine protease 2|mannose-binding lectin associated protein 19" MASP1P1 "mannan-binding lectin serine protease 2|mannan-binding lectin serine peptidase 1 pseudogene 1|mannan-binding lectin serine protease 1 pseudogene 1" "Sushi domain containing|Complement system activation components" "1179|1638" 1998-12-17 2021-02-11 2021-05-26 10747 ENSG00000009724 OTTHUMG00000002121 uc001aru.4 X98400 NM_006610 "CCDS123|CCDS124" O00187 "9087411|9777418" MGI:1330832 RGD:620214 "MASP2base: Mutation registry for MASP-2 deficiency|http://structure.bmc.lu.se/idbase/MASP2base/|LRG_82|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_82.xml" 605102 332185 S01.229 HGNC:6902 "ENST00000400897.8|NM_006610.4" HGNC:6902 +HGNC:19034 MAST1 microtubule associated serine/threonine kinase 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "SAST|KIAA0973" "PDZ domain containing|AGC family kinases|MicroRNA protein coding host genes" "1220|1625|1691" 2004-06-25 2020-04-01 22983 ENSG00000105613 OTTHUMG00000180514 uc002mvm.4 AB023190 NM_014975 CCDS32921 Q9Y2H9 MGI:1861901 RGD:631372 612256 470634 objectId:1510 HGNC:19034 "ENST00000251472.9|NM_014975.3" HGNC:19034 +HGNC:19035 MAST2 microtubule associated serine/threonine kinase 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "MAST205|KIAA0807" "PDZ domain containing|AGC family kinases" "1220|1625" 2004-02-10 2015-09-03 23139 ENSG00000086015 OTTHUMG00000008007 uc001cov.3 AB047005 NM_015112 CCDS41326 Q6P0Q8 MGI:894676 RGD:1304573 612257 objectId:1511 HGNC:19035 "ENST00000361297.7|NM_015112.3" +HGNC:19036 MAST3 microtubule associated serine/threonine kinase 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA0561 "PDZ domain containing|AGC family kinases" "1220|1625" 2004-02-10 2018-11-16 23031 ENSG00000099308 OTTHUMG00000183418 uc002nhz.5 AB011133 NM_015016 CCDS46014 O60307 MGI:2683541 RGD:1587639 612258 objectId:1512 HGNC:19036 "ENST00000687212.1|NM_001393504.1" +HGNC:55276 MAST3-AS1 MAST3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 Antisense RNAs 1987 2020-10-06 2020-10-06 2020-10-06 118827815 ENSG00000269145 +HGNC:19037 MAST4 microtubule associated serine/threonine kinase family member 4 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 KIAA0303 "PDZ domain containing|AGC family kinases" "1220|1625" 2004-12-06 2014-11-19 375449 ENSG00000069020 OTTHUMG00000152471 uc003jut.3 AY830839 NM_001164664 "CCDS75254|CCDS47225|CCDS54861|CCDS47224|CCDS78015" O15021 9205841 MGI:1918885 RGD:1310139 618002 objectId:1513 HGNC:19037 "ENST00000403625.7|NM_001164664.2" +HGNC:40865 MAST4-AS1 MAST4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 MAST4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-31 2012-08-15 2020-04-20 101928794 ENSG00000229666 OTTHUMG00000152480 uc063ecw.1 NR_111908 MAST4-AS1 HGNC:40865 +HGNC:41448 MAST4-IT1 MAST4 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 MAST4 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 100874310 ENSG00000249057 OTTHUMG00000162486 uc063ecl.1 MAST4-IT1 +HGNC:19042 MASTL microtubule associated serine/threonine kinase like protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "FLJ14813|THC2|Gwl" greatwall kinase homolog microtubule associated serine/threonine kinase-like AGC family kinases 1625 2004-02-10 2015-11-27 2015-11-27 84930 ENSG00000120539 OTTHUMG00000017855 uc001itl.3 BC009107 NM_032844 "CCDS53503|CCDS7153|CCDS53502" Q96GX5 MGI:1914371 RGD:1309186 608221 123154 objectId:1514 HGNC:19042 "ENST00000375940.9|NM_001172303.3" HGNC:19042 +HGNC:6903 MAT1A methionine adenosyltransferase 1A protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "MAT|SAMS|MATA1|SAMS1" S-adenosylmethionine synthetase methionine adenosyltransferase I, alpha 1997-07-01 2016-01-27 2016-10-05 4143 ENSG00000151224 OTTHUMG00000018613 uc001kbw.4 NM_000429 CCDS7365 Q00266 8393662 MGI:88017 RGD:3050 610550 173216 2.5.1.6 HGNC:6903 "ENST00000372213.8|NM_000429.3" HGNC:6903 +HGNC:6904 MAT2A methionine adenosyltransferase 2A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "SAMS2|MATA2|MATII" methionine adenosyltransferase II, alpha 1997-07-01 2016-01-27 2016-01-27 4144 ENSG00000168906 OTTHUMG00000130174 uc002spr.4 NM_005911 CCDS1977 P31153 "1426236|9703951" MGI:2443731 RGD:619985 601468 HGNC:6904 "ENST00000306434.8|NM_005911.6" HGNC:6904 +HGNC:6905 MAT2B methionine adenosyltransferase 2B protein-coding gene gene with protein product Approved 5q34 05q34 "MATIIbeta|SDR23E1" short chain dehydrogenase/reductase family 23E, member 1 methionine adenosyltransferase II, beta Short chain dehydrogenase/reductase superfamily 743 2000-02-01 2016-01-27 2016-01-27 27430 ENSG00000038274 OTTHUMG00000130379 uc003lzk.5 AF182814 NM_013283 "CCDS4365|CCDS4364" Q9NZL9 "9055605|10644686|19027726" MGI:1913667 RGD:1593534 605527 HGNC:6905 "ENST00000321757.11|NM_013283.5" +HGNC:6906 MATK megakaryocyte-associated tyrosine kinase protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HYLTK|CTK|HYL|Lsk|CHK|HHYLTK|DKFZp434N1212|MGC1708|MGC2101" "Csk-homologous kinase|tyrosine-protein kinase CTK|protein kinase HYL|hematopoietic consensus tyrosine-lacking kinase|tyrosylprotein kinase|hydroxyaryl-protein kinase|Csk-type protein tyrosine kinase|HYL tyrosine kinase|tyrosine kinase MATK|leukocyte carboxyl-terminal src kinase related" "SH2 domain containing|Csk family tyrosine kinases" "741|1460" 1994-07-22 2016-07-26 4145 ENSG00000007264 OTTHUMG00000180916 uc002lyv.4 L18974 NM_139355 "CCDS12113|CCDS42468|CCDS12114" P42679 "8288563|7530249" MGI:99259 RGD:69058 600038 objectId:2101 HGNC:6906 "ENST00000310132.11|NM_139355.3" +HGNC:6907 MATN1 matrilin 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "CRTM|CMP" matrilin 1, cartilage matrix protein Matrilins 1602 1991-05-09 2018-02-12 2018-02-12 4146 ENSG00000162510 OTTHUMG00000003705 uc001brz.4 M55675 NM_002379 CCDS336 P21941 "2246248|9083061" MGI:106591 RGD:1359410 115437 HGNC:6907 "ENST00000373765.5|NM_002379.3" +HGNC:40364 MATN1-AS1 MATN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p35.2 01p35.2 MATN1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2020-02-13 100129196 ENSG00000186056 OTTHUMG00000003706 uc057ecc.1 AK057725 NR_034182 32042800 MATN1-AS1 HGNC:40364 +HGNC:6908 MATN2 matrilin 2 protein-coding gene gene with protein product Approved 8q22.1-q22.2 08q22.1-q22.2 Matrilins 1602 1998-04-29 2018-02-13 4147 ENSG00000132561 OTTHUMG00000164795 uc003yic.4 U69263 NM_001317748 "CCDS55264|CCDS83309|CCDS55265" O00339 "9083061|11852232" MGI:109613 RGD:1305353 602108 HGNC:6908 "ENST00000254898.7|NM_002380.5" +HGNC:6909 MATN3 matrilin 3 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "EDM5|HOA" Matrilins 1602 1998-04-29 2021-05-26 4148 ENSG00000132031 OTTHUMG00000151788 uc002rdl.4 AJ001047 NM_002381 CCDS46226 O15232 "9287130|9350998" MGI:1328350 RGD:1305085 602109 123158 HGNC:6909 "ENST00000407540.8|NM_002381.5" HGNC:6909 +HGNC:6910 MATN4 matrilin 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 Matrilins 1602 1998-12-15 2015-09-03 8785 ENSG00000124159 OTTHUMG00000033043 uc061xhd.1 AJ007581 NM_001393530 "CCDS46607|CCDS13348" O95460 "9827539|9027493" MGI:1328314 RGD:1309732 603897 HGNC:6910 "ENST00000372756.6|NM_001393530.1" +HGNC:6912 MATR3 matrin 3 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "KIAA0723|MGC9105|VCPDM" MPD2 myopathy, distal 2 Small nucleolar RNA protein coding host genes 1835 1999-07-21 2021-05-26 9782 ENSG00000015479 OTTHUMG00000129229 uc003ldx.4 M63483 NM_018834 "CCDS75316|CCDS54908|CCDS4210" P43243 "2033075|19344878" MGI:1298379 RGD:3052 164015 189131 HGNC:6912 "ENST00000394805.8|NM_018834.6" HGNC:6912 +HGNC:54991 MATR3P1 MATR3 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-15 2020-05-15 100499496 ENSG00000225858 NG_027489 +HGNC:29140 MAU2 MAU2 sister chromatid cohesion factor protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MGC75361|mau-2|MAU2L|SCC4" sister chromatid cohesion 4 KIAA0892 "KIAA0892|MAU2 chromatid cohesion factor homolog (C. elegans)" 2004-02-09 2013-08-28 2016-01-11 2016-01-11 23383 ENSG00000129933 OTTHUMG00000150188 uc002nmk.5 AB020699 NM_015329 CCDS32969 Q9Y6X3 10048485 MGI:1921799 RGD:1308759 614560 470638 HGNC:29140 "ENST00000262815.13|NM_015329.4" +HGNC:29233 MAVS mitochondrial antiviral signaling protein protein-coding gene gene with protein product Approved 20p13 20p13 "VISA|KIAA1271|IPS-1|Cardif" "virus-induced signaling adaptor|IFN-B promoter stimulator 1|CARD adaptor inducing IFN-beta" Caspase recruitment domain containing 959 2009-04-01 2021-08-31 57506 ENSG00000088888 OTTHUMG00000031765 uc002wjw.5 DQ174270 NM_020746 "CCDS33437|CCDS56176" Q7Z434 "16125763|16153868" MGI:2444773 RGD:1359371 609676 HGNC:29233 "ENST00000428216.4|NM_020746.5" +HGNC:6913 MAX MYC associated factor X protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "bHLHd4|bHLHd5|bHLHd6|bHLHd7|bHLHd8" MAX protein Basic helix-loop-helix proteins 420 1992-10-27 2005-02-08 2021-04-13 4149 ENSG00000125952 OTTHUMG00000142809 uc001xif.3 NM_197957 "CCDS81813|CCDS9772|CCDS41965|CCDS9770|CCDS9771|CCDS9774" P61244 1557420 MGI:96921 RGD:621101 LRG_530|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_530.xml MAX 154950 290420 HGNC:6913 "ENST00000358664.9|NM_002382.5" HGNC:6913 +HGNC:6914 MAZ MYC associated zinc finger protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "ZF87|Pur-1|Zif87|ZNF801" purine-binding transcription factor MYC-associated zinc finger protein (purine-binding transcription factor) Zinc fingers C2H2-type 28 1998-05-20 2016-02-12 2016-02-12 4150 ENSG00000103495 OTTHUMG00000190393 uc002dtx.5 M93339 NM_002383 "CCDS42144|CCDS61902|CCDS61903|CCDS42143" P56270 "1567856|1502157" MGI:1338823 RGD:1594632 600999 HGNC:6914 "ENST00000322945.11|NM_002383.4" +HGNC:6915 MB myoglobin protein-coding gene gene with protein product Approved 22q12.3 22q12.3 PVALB 2001-06-22 2016-10-05 4151 ENSG00000198125 OTTHUMG00000150606 uc003aob.3 NM_203377 CCDS13917 P02144 "10591208|2989088" MGI:96922 RGD:620411 160000 HGNC:6915 "ENST00000397326.7|NM_005368.3" +HGNC:30438 MB21D2 Mab-21 domain containing 2 protein-coding gene gene with protein product Approved 3q29 03q29 C3orf59 chromosome 3 open reading frame 59 2006-02-07 2011-02-23 2011-02-23 2016-10-05 151963 ENSG00000180611 OTTHUMG00000155768 uc011bsp.3 AK056276 NM_178496 CCDS3302 Q8IYB1 12477932 MGI:1917028 RGD:1559643 HGNC:30438 "ENST00000392452.3|NM_178496.4" +HGNC:6916 MBD1 methyl-CpG binding domain protein 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "PCM1|CXXC3" "Zinc fingers CXXC-type|Methyl-CpG binding domain containing" "136|1025" 1997-10-29 2016-10-05 4152 ENSG00000141644 OTTHUMG00000132669 uc010dow.3 Y10746 NM_015846 "CCDS56073|CCDS56072|CCDS56071|CCDS59318|CCDS11944|CCDS11943|CCDS11942|CCDS11941|CCDS32832|CCDS59319|CCDS59320" Q9UIS9 "9207790|10441743" MGI:1333811 RGD:1305980 156535 HGNC:6916 "ENST00000269468.10|NM_015846.4" +HGNC:6917 MBD2 methyl-CpG binding domain protein 2 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "Methyl-CpG binding domain containing|NuRD complex subunits|Small nucleolar RNA protein coding host genes" "1025|1305|1835" 1999-01-11 2016-10-05 8932 ENSG00000134046 OTTHUMG00000132705 uc002lfg.2 AF072242 NM_003927 "CCDS11953|CCDS45871" Q9UBB5 "9774669|10441743" MGI:1333813 RGD:1595452 603547 HGNC:6917 "ENST00000256429.8|NM_003927.5" +HGNC:6918 MBD3 methyl-CpG binding domain protein 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Methyl-CpG binding domain containing|NuRD complex subunits" "1025|1305" 1999-01-11 2019-08-20 53615 ENSG00000071655 OTTHUMG00000180081 uc002ltj.5 AF072247 NM_003926 "CCDS12072|CCDS62481" O95983 "9774669|10441743" MGI:1333812 RGD:1307389 603573 HGNC:6918 "ENST00000434436.8|NM_001281453.2" +HGNC:15774 MBD3L1 methyl-CpG binding domain protein 3 like 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MBD3L methyl-CpG binding domain protein 3-like 2001-06-21 2003-03-21 2016-03-15 2016-03-15 85509 ENSG00000170948 OTTHUMG00000182198 uc060sxz.1 AY038022 NM_145208 CCDS12209 Q8WWY6 12504854 MGI:1920753 RGD:1308259 607963 HGNC:15774 "ENST00000595891.2|NM_001393532.1" +HGNC:18532 MBD3L2 methyl-CpG binding domain protein 3 like 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2002-04-29 2016-03-15 2016-03-15 125997 ENSG00000230522 OTTHUMG00000181975 uc010dvf.2 AF503919 NM_144614 CCDS42483 Q8NHZ7 MGI:2158460 RGD:1308833 607964 HGNC:18532 "ENST00000381393.3|NM_144614.4" +HGNC:53435 MBD3L2B methyl-CpG binding domain protein 3 like 2B protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2017-04-06 2017-04-06 729458 ENSG00000196589 OTTHUMG00000181972 NM_001364674 A0A1B0GVZ6 MGI:2158460 HGNC:53435 "ENST00000636986.2|NM_001364674.2" +HGNC:37205 MBD3L3 methyl-CpG binding domain protein 3 like 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2011-08-04 2016-03-15 2016-03-15 653657 ENSG00000182315 OTTHUMG00000181976 uc021uns.2 NM_001164425 CCDS45944 A6NE82 MGI:2158460 HGNC:37205 "ENST00000333843.9|NM_001164425.4" +HGNC:37206 MBD3L4 methyl-CpG binding domain protein 3 like 4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2011-08-04 2016-03-15 2016-03-15 653656 ENSG00000205718 OTTHUMG00000181974 uc021unr.2 NM_001164419 CCDS54205 A6NDZ8 MGI:2158460 HGNC:37206 "ENST00000381394.9|NM_001164419.3" +HGNC:37204 MBD3L5 methyl-CpG binding domain protein 3 like 5 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 methyl-CpG binding domain protein 3-like 5 2011-08-04 2016-03-15 2016-03-15 284428 ENSG00000237247 OTTHUMG00000181973 uc010xjl.3 NM_001136507 CCDS45942 A6NJ08 MGI:2158460 HGNC:37204 "ENST00000329753.5|NM_001136507.2" +HGNC:6919 MBD4 methyl-CpG binding domain 4, DNA glycosylase protein-coding gene gene with protein product Approved 3q21.3 03q21.3 MED1 methyl-CpG binding domain protein 4 "DNA glycosylases|Methyl-CpG binding domain containing" "1024|1025" 1999-01-11 2016-03-15 2016-03-15 8930 ENSG00000129071 OTTHUMG00000159463 uc003emh.3 AF072250 NM_003925 "CCDS63766|CCDS3058|CCDS63768|CCDS63769|CCDS63767" O95243 "9774669|10097147" MGI:1333850 RGD:1585874 603574 HGNC:6919 "ENST00000429544.7|NM_001276270.2" +HGNC:20444 MBD5 methyl-CpG binding domain protein 5 protein-coding gene gene with protein product Approved 2q23.2 02q23.2 "FLJ11113|KIAA1461" "Methyl-CpG binding domain containing|PWWP domain containing" "1025|1147" 2003-03-03 2021-05-26 55777 ENSG00000204406 OTTHUMG00000150440 uc002twm.5 AB040894 NM_001378120 CCDS33302 Q9P267 12529184 MGI:2138934 RGD:1562961 611472 244206 HGNC:20444 "ENST00000642680.2|NM_001378120.1" HGNC:20444 +HGNC:20445 MBD6 methyl-CpG binding domain protein 6 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 KIAA1887 Methyl-CpG binding domain containing 1025 2003-03-03 2016-10-24 114785 ENSG00000166987 OTTHUMG00000170099 uc001soj.2 AB067474 NM_052897 CCDS8944 Q96DN6 12529184 MGI:106378 RGD:1311050 619458 HGNC:20445 "ENST00000355673.8|NM_052897.4" +HGNC:20427 MBIP MAP3K12 binding inhibitory protein 1 protein-coding gene gene with protein product Approved 14q13.3 14q13.3 ATAC complex 1058 2003-10-03 2016-10-05 51562 ENSG00000151332 OTTHUMG00000140222 uc001wtm.2 BC016821 NM_016586 "CCDS9658|CCDS45096|CCDS76672" Q9NS73 10801814 MGI:1918320 RGD:1306310 609431 HGNC:20427 "ENST00000416007.9|NM_016586.3" +HGNC:6921 MBL1P mannose binding lectin 1, pseudogene pseudogene pseudogene Approved 10q22.3 10q22.3 COLEC3P MBL1P1 "mannose-binding lectin (protein A) 1, pseudogene 1|mannose-binding lectin (protein A) 1, pseudogene" "Collectins|C-type lectin domain containing" "491|1298" 1998-10-12 2009-12-02 2016-06-27 2020-08-14 8512 ENSG00000242600 OTTHUMG00000018595 AF019382 NR_002724 9501312 MGI:96923 RGD:3055 PGOHUM00000258533 HGNC:6921 +HGNC:6922 MBL2 mannose binding lectin 2 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 COLEC1 MBL "mannose-binding lectin (protein C) 2, soluble (opsonic defect)|mannose-binding lectin (protein C) 2, soluble" "Collectins|Complement system activation components" "491|1638" 1990-05-25 2016-02-01 2021-04-13 4153 ENSG00000165471 OTTHUMG00000150270 uc001jjt.3 AF360991 NM_000242 CCDS7247 P11226 "1675710|1672848" MGI:96924 RGD:67380 LRG_154|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_154.xml 154545 457472 HGNC:6922 "ENST00000674931.1|NM_001378373.1" +HGNC:2221 MBL3P mannose-binding lectin family member 3, pseudogene pseudogene pseudogene Approved 10q22.3 10q22.3 COLEC2 collectin sub-family member 2 Collectins 491 2000-04-11 2009-12-02 2011-08-09 2021-02-11 50639 ENSG00000219430 OTTHUMG00000018569 NG_029674 HGNC:2221 +HGNC:22180 MBLAC1 metallo-beta-lactamase domain containing 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MGC49416 MBL domain containing glyoxalase 2 subfamily 1614 2009-04-08 2009-04-08 2016-10-05 255374 ENSG00000214309 OTTHUMG00000154846 uc003utp.4 BC031288 NM_203397 CCDS43620 A4D2B0 MGI:2679717 RGD:1306932 HGNC:22180 "ENST00000398075.4|NM_203397.3" +HGNC:33711 MBLAC2 metallo-beta-lactamase domain containing 2 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "DKFZp686P15118|MGC46734" MBL domain containing glyoxalase 2 subfamily 1614 2009-04-08 2009-04-08 2015-07-16 153364 ENSG00000176055 OTTHUMG00000131327 uc003kjp.3 BC038230 NM_203406 CCDS4067 Q68D91 MGI:1920102 RGD:1306703 HGNC:33711 "ENST00000316610.7|NM_203406.2" +HGNC:6923 MBNL1 muscleblind like splicing regulator 1 protein-coding gene gene with protein product Approved 3q25.1-q25.2 03q25.1-q25.2 "KIAA0428|EXP42|EXP40|EXP35|EXP" MBNL "muscleblind (Drosophila)-like|muscleblind-like (Drosophila)|muscleblind-like splicing regulator 1" Zinc fingers CCCH-type 73 1998-02-26 2003-03-14 2015-11-13 2018-02-13 4154 ENSG00000152601 OTTHUMG00000159163 uc062pck.1 Y13829 NM_021038 "CCDS3163|CCDS54656|CCDS82864|CCDS3164|CCDS3165|CCDS3166|CCDS3167|CCDS3168|CCDS87156" Q9NR56 MGI:1928482 RGD:628668 606516 HGNC:6923 "ENST00000324210.10|NM_021038.5" +HGNC:44584 MBNL1-AS1 MBNL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 LOC401093 Antisense RNAs 1987 2012-11-19 2019-07-12 401093 ENSG00000229619 OTTHUMG00000186506 uc011boe.3 "AK304857|BM790896" NR_027037 31255531 MBNL1-AS1 HGNC:44584 +HGNC:16746 MBNL2 muscleblind like splicing regulator 2 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "MBLL|MBLL39" "muscleblind-like 2 (Drosophila)|muscleblind-like splicing regulator 2" Zinc fingers CCCH-type 73 2003-03-05 2016-02-01 2016-10-05 10150 ENSG00000139793 OTTHUMG00000017239 uc001vmz.5 AF061261 NM_144778 "CCDS76644|CCDS9484|CCDS9483" Q5VZF2 11929853 MGI:2145597 RGD:1591755 607327 HGNC:16746 "ENST00000679496.1|NM_001382683.1" +HGNC:20564 MBNL3 muscleblind like splicing regulator 3 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "CHCR|FLJ11316|MBLX39|MBXL" "muscleblind-like 3 (Drosophila)|muscleblind-like splicing regulator 3" Zinc fingers CCCH-type 73 2003-03-05 2016-02-01 2020-04-02 55796 ENSG00000076770 OTTHUMG00000022426 uc004ewv.5 AF491305 NM_018388 "CCDS14633|CCDS14634|CCDS55492" Q9NUK0 "12297108|10970838" MGI:2444912 RGD:1565834 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MBNL3 300413 HGNC:20564 "ENST00000370853.8|NM_001386889.1" +HGNC:21579 MBOAT1 membrane bound O-acyltransferase domain containing 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "MGC44669|dJ434O11.1|LPEAT1" lysophosphatidylethanolamine acyltransferase 1 OACT1 O-acyltransferase (membrane bound) domain containing 1 Membrane bound O-acyltransferases 1036 2003-06-26 2006-06-29 2006-06-29 2014-11-18 154141 ENSG00000172197 OTTHUMG00000014334 uc003ncx.4 AK093994 NM_001080480 CCDS34346 Q6ZNC8 18287005 MGI:2387184 RGD:1565561 611732 HGNC:21579 "ENST00000324607.8|NM_001080480.3" +HGNC:25193 MBOAT2 membrane bound O-acyltransferase domain containing 2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "FLJ14415|FLJ90298" OACT2 O-acyltransferase (membrane bound) domain containing 2 Membrane bound O-acyltransferases 1036 2004-07-06 2006-06-29 2006-06-29 2016-10-05 129642 ENSG00000143797 OTTHUMG00000090363 uc002qzg.2 BC016005 NM_138799 CCDS1660 Q6ZWT7 MGI:1914466 RGD:1305798 611949 HGNC:25193 "ENST00000305997.8|NM_138799.4" +HGNC:32311 MBOAT4 membrane bound O-acyltransferase domain containing 4 protein-coding gene gene with protein product Approved 8p12 08p12 "FKSG89|GOAT" ghrelin O-acyltransferase OACT4 O-acyltransferase (membrane bound) domain containing 4 Membrane bound O-acyltransferases 1036 2005-09-27 2006-06-29 2006-06-29 2015-08-25 619373 ENSG00000177669 OTTHUMG00000163824 uc010lvg.4 AF359269 NM_001100916 CCDS47835 Q96T53 18443287 MGI:2685017 RGD:1566335 611940 HGNC:32311 "ENST00000320542.4|NM_001100916.2" +HGNC:15505 MBOAT7 membrane bound O-acyltransferase domain containing 7 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "BB1|hMBOA-7|LPLAT" "lysophosphatidylinositol acyltransferase|lysophospholipid acyltransferase 7" LENG4 leukocyte receptor cluster (LRC) member 4 Membrane bound O-acyltransferases 1036 2004-01-28 2008-01-17 2008-01-17 2018-03-06 79143 ENSG00000125505 OTTHUMG00000066516 uc032icm.2 AF211969 NM_024298 "CCDS12883|CCDS54315|CCDS54316" Q96N66 "10941842|8702217|18094042" MGI:1924832 RGD:1306945 606048 476167 2.3.1.n4 HGNC:15505 "ENST00000245615.6|NM_024298.5" HGNC:15505 +HGNC:6925 MBP myelin basic protein protein-coding gene gene with protein product Approved 18q23 18q23 1986-01-01 2014-11-18 4155 ENSG00000197971 OTTHUMG00000132874 uc002lmn.4 NM_001025081 "CCDS32847|CCDS42448|CCDS42450|CCDS42449|CCDS12011" P02686 2425357 MGI:96925 RGD:3054 159430 470640 HGNC:6925 "ENST00000355994.7|NM_001025101.2" +HGNC:19866 MBTD1 mbt domain containing 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "SA49P01|FLJ20055" "MBT domain containing|Tip60/Nua4 histone acetyltransferase complex subunits" "1263|1634" 2003-01-15 2015-04-21 54799 ENSG00000011258 OTTHUMG00000150442 uc002itr.4 AK000062 NM_017643 CCDS11581 Q05BQ5 MGI:2143977 RGD:1592427 618705 HGNC:19866 "ENST00000586178.6|NM_017643.3" +HGNC:15456 MBTPS1 membrane bound transcription factor peptidase, site 1 protein-coding gene gene with protein product Approved 16q23.3-q24.1 16q23.3-q24.1 "S1P|KIAA0091|SKI-1|PCSK8" "subtilisin kexin isozyme 1|site-1 protease" membrane-bound transcription factor protease, site 1 Proprotein convertase subtilisin/kexin family 973 2001-03-30 2015-11-11 2018-02-13 8720 ENSG00000140943 OTTHUMG00000137639 uc002fhi.5 D42053 NM_003791 CCDS10941 Q14703 "9809072|10944850" MGI:1927235 RGD:70935 603355 objectId:2381 HGNC:15456 "ENST00000343411.8|NM_003791.4" HGNC:15456 +HGNC:55401 MBTPS1-DT MBTPS1 divergent transcript non-coding RNA RNA, long non-coding Approved 16q24.1 16q24.1 Divergent transcripts 1990 2020-12-21 2020-12-21 119863866 ENSG00000260018 +HGNC:15455 MBTPS2 membrane bound transcription factor peptidase, site 2 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 S2P "site-2 protease|sterol regulatory element-binding proteins intramembrane protease" KFSD "membrane-bound transcription factor protease, site 2|keratosis follicularis spinulosa decalvans" 2001-03-30 2015-11-11 2021-12-07 51360 ENSG00000012174 OTTHUMG00000021237 uc004dae.4 AF019612 NM_015884 CCDS14201 O43462 "9847074|9659902|20672378" MGI:2444506 RGD:1566171 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MBTPS2 300294 189135 M50.001 3.4.24.85 HGNC:15455 "ENST00000379484.10|NM_015884.4" HGNC:15455 +HGNC:6929 MC1R melanocortin 1 receptor protein-coding gene gene with protein product Approved 16q24.3 16q24.3 MSH-R alpha melanocyte stimulating hormone receptor melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) Melanocortin receptors 236 1993-07-27 2016-02-01 2016-02-01 4157 ENSG00000258839 OTTHUMG00000171163 uc002fpe.4 NM_002386 CCDS56011 Q01726 8458079 MGI:99456 RGD:1312046 155555 139778 objectId:282 HGNC:6929 "ENST00000555147.2|NM_002386.4" +HGNC:6930 MC2R melanocortin 2 receptor protein-coding gene gene with protein product Approved 18p11.2 18p11.2 ACTHR adrenocorticotropic hormone receptor melanocortin 2 receptor (adrenocorticotropic hormone) Melanocortin receptors 236 1993-07-20 2016-02-01 2021-05-26 4158 ENSG00000185231 OTTHUMG00000131721 uc002ksp.2 NM_000529 CCDS11869 Q01718 8390157 MGI:96928 RGD:628649 607397 123161 objectId:283 HGNC:6930 "ENST00000327606.4|NM_000529.2" HGNC:6930 +HGNC:6931 MC3R melanocortin 3 receptor protein-coding gene gene with protein product Approved 20q13.2 20q13.2 MC3 Melanocortin receptors 236 1993-07-27 2016-10-05 4159 ENSG00000124089 OTTHUMG00000032785 uc002xxb.2 NM_019888 CCDS13449 P41968 8463333 MGI:96929 RGD:3056 155540 220900 objectId:284 HGNC:6931 "ENST00000243911.2|NM_019888.3" +HGNC:6932 MC4R melanocortin 4 receptor protein-coding gene gene with protein product Approved 18q21.32 18q21.32 Melanocortin receptors 236 1993-07-27 2021-05-26 4160 ENSG00000166603 OTTHUMG00000132766 uc002lie.2 AY236539 NM_005912 CCDS11976 P32245 "7949735|9763669" MGI:99457 RGD:3057 LRG_1346|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1346.xml 155541 168091 objectId:285 HGNC:6932 "ENST00000299766.5|NM_005912.3" HGNC:6932 +HGNC:6933 MC5R melanocortin 5 receptor protein-coding gene gene with protein product Approved 18p11.21 18p11.21 Melanocortin receptors 236 1994-01-10 2016-10-05 4161 ENSG00000176136 OTTHUMG00000131720 uc010xaf.3 AY268429 NM_005913 CCDS11868 P33032 8396929 MGI:99420 RGD:3058 600042 objectId:286 HGNC:6933 "ENST00000589410.2|NM_005913.3" +HGNC:6934 MCAM melanoma cell adhesion molecule protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "MUC18|CD146|MelCAM|METCAM|HEMCAM" Gicerin "CD molecules|V-set domain containing|C2-set domain containing|Ig-like cell adhesion molecule family|MicroRNA protein coding host genes" "471|590|592|1410|1691" 1995-12-18 2019-04-16 4162 ENSG00000076706 OTTHUMG00000166197 uc001pwf.4 X68264 NM_006500 CCDS31690 P43121 "2602381|10702685|19229070" MGI:1933966 RGD:620463 155735 objectId:2988 CD146 HGNC:6934 "ENST00000264036.6|NM_006500.3" +HGNC:29622 MCAT malonyl-CoA-acyl carrier protein transacylase protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "MT|MCT|fabD|FASN2C|NET62|MCT1" [acyl-carrier-protein] S-malonyltransferase malonyl CoA:ACP acyltransferase (mitochondrial) 2006-08-24 2015-11-11 2017-02-02 27349 ENSG00000100294 OTTHUMG00000150704 uc003bdl.2 AL359401 NM_173467 "CCDS33660|CCDS14045" Q8IVS2 12882974 MGI:2388651 RGD:1306698 614479 2.3.1.39 HGNC:29622 "ENST00000290429.11|NM_173467.5" HGNC:29622 +HGNC:6935 MCC MCC regulator of WNT signaling pathway protein-coding gene gene with protein product Approved 5q22.2 05q22.2 "mutated in colorectal cancers|MCC, WNT signaling pathway regulator" EF-hand domain containing 863 1991-08-19 2019-01-25 2020-11-17 4163 ENSG00000171444 OTTHUMG00000128804 uc003kql.5 NM_001085377 "CCDS4111|CCDS43351" P23508 "1848370|25200342|25183869" MGI:96930 RGD:1561988 159350 HGNC:6935 "ENST00000408903.7|NM_001085377.2" +HGNC:6936 MCCC1 methylcrotonyl-CoA carboxylase subunit 1 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "MCCA|MCCCα" "methylcrotonoyl-CoA carboxylase alpha|3-methylcrotonyl-CoA carboxylase biotin containing subunit" "methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)|methylcrotonoyl-CoA carboxylase 1" Methylcrotonyl-CoA carboxylase subunits 2047 1992-12-07 2021-03-18 2021-05-26 56922 ENSG00000078070 OTTHUMG00000158355 uc003fle.4 AF310972 NM_020166 "CCDS87170|CCDS3241" Q96RQ3 11170888 MGI:1919289 RGD:1310615 609010 123164 6.4.1.4 HGNC:6936 "ENST00000265594.9|NM_020166.5" HGNC:6936 +HGNC:40366 MCCC1-AS1 MCCC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 MCCC1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 106480736 ENSG00000243368 OTTHUMG00000158356 uc062qni.1 MCCC1-AS1 +HGNC:6937 MCCC2 methylcrotonyl-CoA carboxylase subunit 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "MCCB|MCCCβ" "methylcrotonoyl-CoA carboxylase beta|3-methylcrotonyl-CoA carboxylase non-biotin containing subunit" "methylcrotonoyl-Coenzyme A carboxylase 2 (beta)|methylcrotonoyl-CoA carboxylase 2" Methylcrotonyl-CoA carboxylase subunits 2047 1992-12-07 2021-03-18 2021-05-26 64087 ENSG00000131844 OTTHUMG00000162505 uc003kbs.5 AF310971 NM_001363147 CCDS34184 Q9HCC0 MGI:1925288 RGD:1310279 609014 123167 6.4.1.4 HGNC:6937 "ENST00000340941.11|NM_022132.5" HGNC:6937 +HGNC:20668 MCCD1 mitochondrial coiled-coil domain 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 2003-10-17 2016-10-25 401250 ENSG00000204511 OTTHUMG00000134292 uc003ntp.2 NM_001011700 CCDS34396 P59942 14527716 609624 HGNC:20668 "ENST00000376191.3|NM_001011700.3" +HGNC:33449 MCCD1P1 mitochondrial coiled-coil domain 1 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 OTTHUMG00000130506 2007-05-01 2016-10-05 100048903 ENSG00000235963 OTTHUMG00000130506 NG_032195 PGOHUM00000243131 HGNC:33449 +HGNC:33462 MCCD1P2 mitochondrial coiled-coil domain 1 pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 BPG309N1.16 2007-05-02 2016-10-05 100048924 ENSG00000224312 OTTHUMG00000130500 NG_032719 PGOHUM00000243133 HGNC:33462 +HGNC:16732 MCEE methylmalonyl-CoA epimerase protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "GLOD2|MCE|MMCE" "glyoxalase domain containing 2|methylmalonyl CoA isomerase" Glyoxalase domain containing family 2111 2001-10-03 2015-11-11 2021-10-11 84693 ENSG00000124370 OTTHUMG00000129709 uc002shs.3 AF364547 NM_032601 CCDS1915 Q96PE7 "16697227|16752391|16843692|21820381" MGI:1920974 RGD:1309966 MCEE database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MCEE 608419 181982 5.1.99.1 HGNC:16732 "ENST00000244217.6|NM_032601.4" HGNC:16732 +HGNC:27291 MCEMP1 mast cell expressed membrane protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC132456 C19orf59 chromosome 19 open reading frame 59 2006-08-30 2014-04-16 2016-06-22 2016-11-16 199675 ENSG00000183019 OTTHUMG00000182440 AF461155 NM_174918 CCDS12183 Q8IX19 15953541 MGI:1916439 RGD:1565374 609565 HGNC:27291 "ENST00000333598.8|NM_174918.3" +HGNC:6940 MCF2 MCF.2 cell line derived transforming sequence protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 "DBL|ARHGEF21" Oncogene MCF2 (oncogene DBL) Dbl family Rho GEFs 722 1989-06-06 2020-04-02 4168 ENSG00000101977 OTTHUMG00000022537 uc004faw.3 NM_005369 "CCDS14667|CCDS48175|CCDS55517|CCDS55516|CCDS55514|CCDS55515" P10911 "2577874|1611909" MGI:96932 RGD:1566098 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MCF2 311030 HGNC:6940 +HGNC:14576 MCF2L MCF.2 cell line derived transforming sequence like protein-coding gene gene with protein product Approved 13q34 13q34 "KIAA0362|DBS|OST|ARHGEF14" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-02-08 2015-11-10 2016-04-25 23263 ENSG00000126217 OTTHUMG00000017377 uc010tjs.3 AB002360 NM_001112732 "CCDS9527|CCDS45070|CCDS81782" O15068 9205841 MGI:103263 RGD:619782 609499 HGNC:14576 "ENST00000535094.7|NM_001112732.3" +HGNC:39825 MCF2L-AS1 MCF2L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 MCF2L antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-30 2012-08-15 2014-11-18 100289410 ENSG00000235280 OTTHUMG00000057130 uc058ykf.1 NR_034002 MCF2L-AS1 HGNC:39825 +HGNC:30319 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "KIAA0861|ARHGEF22" Dbl family Rho GEFs 722 2004-09-06 2016-10-05 23101 ENSG00000053524 OTTHUMG00000158388 uc003fli.3 AB020668 NM_015078 CCDS3243 Q86YR7 HGNC:30319 "ENST00000328913.8|NM_015078.4" +HGNC:18451 MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit protein-coding gene gene with protein product Approved 2p21 02p21 "F5F8D|LMAN1IP|SDNSF" EF-hand domain containing 863 2003-06-24 2019-10-24 2021-04-13 90411 ENSG00000180398 OTTHUMG00000153100 uc010fba.4 AF475284 NM_139279 "CCDS54355|CCDS33192|CCDS54354" Q8NI22 "12717434|2463956" MGI:2183439 RGD:628690 LRG_566|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_566.xml 607788 123170 HGNC:18451 "ENST00000319466.9|NM_139279.6" HGNC:18451 +HGNC:21582 MCFD2P1 multiple coagulation factor deficiency 2 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "dJ153G14.2|NUCB2-L" "C6orf44|MCFD2L" "chromosome 6 open reading frame 44|multiple coagulation factor deficiency 2-like" 2003-11-26 2010-10-20 2010-10-20 2016-10-05 645927 ENSG00000237154 OTTHUMG00000014476 NG_009330 PGOHUM00000243529 HGNC:21582 +HGNC:4479 MCHR1 melanin concentrating hormone receptor 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "SLC1|MCH1R" GPR24 "G protein-coupled receptor 24|melanin-concentrating hormone receptor 1" Melanin concentrating hormone receptors 235 1996-11-15 2006-02-15 2015-11-23 2016-10-05 2847 ENSG00000128285 OTTHUMG00000150256 uc003ayz.4 NM_005297 CCDS14004 Q99705 MGI:2180756 RGD:619841 601751 objectId:280 HGNC:4479 "ENST00000249016.5|NM_005297.4" +HGNC:20867 MCHR2 melanin concentrating hormone receptor 2 protein-coding gene gene with protein product Approved 6q16.2 06q16.2 "SLT|MCH2|MCH2R" GPR145 "G protein-coupled receptor 145|melanin-concentrating hormone receptor 2" Melanin concentrating hormone receptors 235 2003-05-13 2006-02-15 2015-11-23 2016-10-05 84539 ENSG00000152034 OTTHUMG00000015270 uc003pqh.1 AF347063 NM_032503 CCDS5044 Q969V1 "11355873|11274220" 606111 objectId:281 HGNC:20867 "ENST00000281806.7|NM_001040179.2" +HGNC:48980 MCHR2-AS1 MCHR2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q16.2-q16.3 06q16.2-q16.3 Antisense RNAs 1987 2013-07-24 2018-02-13 728012 ENSG00000229315 OTTHUMG00000015271 NR_038384 MCHR2-AS1 HGNC:48980 +HGNC:40050 MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "MCI|IDAS" multicilin MCIN multiciliate cell differentiation 1 2012-07-18 2013-02-28 2013-02-28 2013-02-28 345643 ENSG00000234602 OTTHUMG00000162600 uc021xyp.2 FR854393 NM_001190787 CCDS54853 D6RGH6 "21543332|22231168" MGI:3648807 RGD:1584164 614086 470644 HGNC:40050 "ENST00000513312.3|NM_001190787.3" HGNC:40050 +HGNC:6943 MCL1 MCL1 apoptosis regulator, BCL2 family member protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "BCL2L3|Mcl-1" "myeloid cell leukemia sequence 1 (BCL2-related)|myeloid cell leukemia 1|MCL1, BCL2 family apoptosis regulator" BCL2 family 1057 1993-11-09 2019-01-25 2019-01-25 4170 ENSG00000143384 OTTHUMG00000034867 uc001euz.4 BC017197 NM_021960 "CCDS72909|CCDS957|CCDS956" Q07820 "7682708|7835896" MGI:101769 RGD:620525 159552 objectId:2847 HGNC:6943 "ENST00000369026.3|NM_021960.5" +HGNC:6944 MCM2 minichromosome maintenance complex component 2 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "D3S3194|KIAA0030|BM28|cdc19|DFNA70" mitotin "CCNL1|CDCL1" "minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)|MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)" "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1993-09-30 2007-04-04 2017-08-14 4171 ENSG00000073111 OTTHUMG00000159637 uc003ejp.5 X67334 NM_004526 CCDS3043 P49736 "1710453|8258304|26196677" MGI:105380 RGD:1305577 116945 459297 HGNC:6944 "ENST00000265056.12|NM_004526.4" HGNC:6944 +HGNC:6945 MCM3 minichromosome maintenance complex component 3 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "minichromosome maintenance deficient (S. cerevisiae) 3|MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)" "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1994-12-13 2007-04-04 2016-10-05 4172 ENSG00000112118 OTTHUMG00000014844 uc063ozz.1 X62153 NM_001270472 "CCDS4940|CCDS75468" P25205 1549468 MGI:101845 RGD:1305168 602693 HGNC:6945 "ENST00000596288.7|NM_002388.6" +HGNC:6946 MCM3AP minichromosome maintenance complex component 3 associated protein protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "Map80|KIAA0572|GANP|SAC3" germinal-centre associated nuclear protein "minichromosome maintenance deficient (S. cerevisiae) 3-associated protein|MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein" "Lysine acetyltransferases|Transcription and export complex 2" "486|1276" 1999-03-04 2007-04-04 2014-11-19 8888 ENSG00000160294 OTTHUMG00000090630 uc031rwc.2 AB005543 NM_003906 CCDS13734 O60318 "9712829|16914116|21195085" MGI:1930089 RGD:1306834 603294 HGNC:6946 "ENST00000291688.6|NM_003906.5" HGNC:6946 +HGNC:16417 MCM3AP-AS1 MCM3AP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "FLJ10508|NCRNA00031" non-protein coding RNA 31 "C21orf85|MCM3APAS|MCM3AP-AS" "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein, antisense|MCM3AP antisense RNA (non-protein coding)|MCM3AP antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2001-08-24 2010-11-25 2012-08-15 2019-07-11 114044 ENSG00000215424 OTTHUMG00000090639 uc062aza.1 AK001370 NR_002776 "12036297|31237446" MCM3AP-AS1 HGNC:16417 +HGNC:6947 MCM4 minichromosome maintenance complex component 4 protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "CDC54|hCdc21|P1-Cdc21|MGC33310" DNA replication licensing factor MCM4 CDC21 MCM4 minichromosome maintenance deficient 4 (S. cerevisiae) "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1994-12-13 2007-04-04 2021-05-26 4173 ENSG00000104738 OTTHUMG00000164205 uc003xqk.3 NM_005914 CCDS6143 P33991 7601140 MGI:103199 RGD:3060 LRG_1239|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1239.xml 602638 294681 HGNC:6947 "ENST00000649973.1|NM_182746.3" HGNC:6947 +HGNC:6948 MCM5 minichromosome maintenance complex component 5 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 CDC46 "minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)|MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)" "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1994-12-13 2007-04-04 2016-10-05 4174 ENSG00000100297 OTTHUMG00000150961 uc003anu.5 NM_006739 CCDS13915 P33992 "8751386|10591208" MGI:103197 RGD:1306616 602696 HGNC:6948 "ENST00000216122.9|NM_006739.4" +HGNC:6949 MCM6 minichromosome maintenance complex component 6 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 Mis5 MIS5 homolog (S.pombe) "minichromosome maintenance deficient (mis5, S. pombe) 6|MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)|minichromosome maintenance deficient 6 homolog (S. cerevisiae)" "MCM family|minichromosome maintenance 2-7 complex" "1085|1998" 1996-06-14 2007-04-04 2016-10-05 4175 ENSG00000076003 OTTHUMG00000131739 uc002tuw.5 NM_005915 CCDS2179 Q14566 MGI:1298227 RGD:61967 601806 325604 HGNC:6949 "ENST00000264156.3|NM_005915.6" +HGNC:6950 MCM7 minichromosome maintenance complex component 7 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CDC47|PPP1R104" protein phosphatase 1, regulatory subunit 104 MCM2 "minichromosome maintenance deficient (S. cerevisiae) 7|MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)" "Protein phosphatase 1 regulatory subunits|MCM family|MicroRNA protein coding host genes|minichromosome maintenance 2-7 complex" "694|1085|1691|1998" 1994-12-13 2007-04-04 2016-10-05 4176 ENSG00000166508 OTTHUMG00000154671 uc003usw.3 NM_001278595 "CCDS5683|CCDS5684" P33993 7842741 MGI:1298398 RGD:1303018 600592 HGNC:6950 "ENST00000303887.10|NM_005916.5" +HGNC:16147 MCM8 minichromosome maintenance 8 homologous recombination repair factor protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "MGC4816|MGC12866|MGC119522|MGC119523|dJ967N21.5|REC" REC homolog (Drosophila) C20orf154 "chromosome 20 open reading frame 154|minichromosome maintenance complex component 8" MCM family 1085 2001-07-17 2003-07-09 2015-08-25 2021-05-26 84515 ENSG00000125885 OTTHUMG00000031822 uc002wmk.4 AJ439063 NM_032485 "CCDS13094|CCDS63226|CCDS63227|CCDS13095" Q9UJA3 12527764 MGI:1913884 RGD:1305218 608187 423433 HGNC:16147 "ENST00000610722.4|NM_032485.6" HGNC:16147 +HGNC:51230 MCM8-AS1 MCM8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 Antisense RNAs 1987 2014-08-08 2014-08-08 101929225 ENSG00000278719 OTTHUMG00000186611 AK058185 NR_110101 MCM8-AS1 HGNC:51230 +HGNC:21484 MCM9 minichromosome maintenance 9 homologous recombination repair factor protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "MGC35304|dJ329L24.3|FLJ20170" "MCMDC1|C6orf61" "minichromosome maintenance deficient domain containing 1|chromosome 6 open reading frame 61|minichromosome maintenance complex component 9" MCM family 1085 2003-06-18 2007-04-04 2015-08-25 2021-05-26 254394 ENSG00000111877 OTTHUMG00000015468 uc063qzj.1 BC031658 NM_153255 "CCDS56447|CCDS5121" Q9NXL9 "16226853|15850810|16495042" MGI:1918817 RGD:1560557 610098 448630 HGNC:21484 "ENST00000619706.5|NM_017696.3" HGNC:21484 +HGNC:18043 MCM10 minichromosome maintenance 10 replication initiation factor protein-coding gene gene with protein product Approved 10p13 10p13 "PRO2249|CNA43|DNA43" "MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)|minichromosome maintenance complex component 10" 2002-01-22 2015-08-25 2015-08-25 55388 ENSG00000065328 OTTHUMG00000017694 uc001ima.4 AB042719 NM_182751 "CCDS7096|CCDS7095" Q7L590 "11095689|17699597" MGI:1917274 RGD:1311330 609357 HGNC:18043 "ENST00000378714.8|NM_018518.5" +HGNC:25782 MCMBP minichromosome maintenance complex binding protein protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "FLJ13081|MCM-BP" C10orf119 chromosome 10 open reading frame 119 2004-04-23 2011-01-05 2011-01-05 2016-10-05 79892 ENSG00000197771 OTTHUMG00000019159 uc001ler.4 BC007219 NM_024834 "CCDS7617|CCDS58099" Q9BTE3 17296731 MGI:1920977 RGD:1306730 610909 HGNC:25782 "ENST00000369077.4|NM_001256378.2" +HGNC:26368 MCMDC2 minichromosome maintenance domain containing 2 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 FLJ25692 C8orf45 chromosome 8 open reading frame 45 MCM family 1085 2005-08-04 2012-04-13 2012-04-13 2014-11-19 157777 ENSG00000178460 OTTHUMG00000157068 uc003xwz.4 BC034576 NM_173518 "CCDS47869|CCDS6197|CCDS47868" Q4G0Z9 MGI:3045334 RGD:1561068 617545 HGNC:26368 "ENST00000422365.7|NM_173518.5" +HGNC:13356 MCOLN1 mucolipin TRP cation channel 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TRPML1|ML4|MLIV|MST080|MSTP080|TRPM-L1" "mucolipidosis type IV|transient receptor potential cation channel mucolipin subfamily member 1|transient receptor potential mucolipin 1" mucolipin 1 Transient receptor potential cation channels 249 2000-09-19 2020-10-29 2021-05-26 57192 ENSG00000090674 OTTHUMG00000182046 uc002mgo.4 AF249319 NM_020533 CCDS12180 Q9GZU1 16382100 MGI:1890498 RGD:1308953 605248 123175 objectId:501 HGNC:13356 "ENST00000264079.11|NM_020533.3" HGNC:13356 +HGNC:13357 MCOLN2 mucolipin TRP cation channel 2 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "TRPML2|FLJ36691|TRP-ML2" mucolipin 2 Transient receptor potential cation channels 249 2003-04-04 2020-10-29 2020-10-29 255231 ENSG00000153898 OTTHUMG00000009954 uc001dkm.4 AK094010 NM_153259 "CCDS81347|CCDS30762" Q8IZK6 16382100 MGI:1915529 RGD:1308884 607399 objectId:502 HGNC:13357 "ENST00000370608.8|NM_153259.4" +HGNC:13358 MCOLN3 mucolipin TRP cation channel 3 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "TRPML3|FLJ11006|TRP-ML3" mucolipin 3 Transient receptor potential cation channels 249 2003-04-04 2020-10-29 2020-10-29 55283 ENSG00000055732 OTTHUMG00000009955 uc001dkp.4 AF475085 NM_018298 "CCDS701|CCDS58009" Q8TDD5 16382100 MGI:1890500 RGD:1308420 607400 objectId:503 HGNC:13358 "ENST00000370589.7|NM_018298.11" +HGNC:6954 MCPH1 microcephalin 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "FLJ12847|BRIT1" BRCT-repeat inhibitor of TERT expression 1 microcephaly, primary autosomal recessive 1 1998-02-11 2007-11-26 2021-05-26 79648 ENSG00000147316 OTTHUMG00000163618 uc003wqi.4 AK022909 NM_024596 "CCDS43689|CCDS55190|CCDS55191" Q8NEM0 "9683597|17925396" MGI:2443308 RGD:1560642 607117 123183 HGNC:6954 "ENST00000344683.10|NM_024596.5" HGNC:6954 +HGNC:51655 MCPH1-AS1 MCPH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Antisense RNAs 1987 2015-04-24 2015-04-24 100507530 ENSG00000249898 OTTHUMG00000163619 NR_125386 MCPH1-AS1 HGNC:51655 +HGNC:55599 MCPH1-DT MCPH1 divergent transcript non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Divergent transcripts 1990 2021-05-05 2021-05-05 100287015 ENSG00000246089 NR_040040 +HGNC:28007 MCRIP1 MAPK regulated corepressor interacting protein 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "GRAN2|MCRIP" granulin-2 FAM195B "family with sequence similarity 195, member B|family with sequence similarity 195 member B" 2009-09-10 2016-04-15 2016-05-24 2016-05-24 348262 ENSG00000225663 uc010wuy.3 NM_001093767 "CCDS74179|CCDS74178|CCDS45814" C9JLW8 "26184334|25728771" MGI:2384752 RGD:1311925 616514 HGNC:28007 "ENST00000455127.7|NM_207368.5" +HGNC:14142 MCRIP2 MAPK regulated corepressor interacting protein 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC15416 "C16orf14|FAM195A" "chromosome 16 open reading frame 14|family with sequence similarity 195, member A|family with sequence similarity 195 member A" 2000-12-21 2016-04-15 2016-05-24 2017-11-28 84331 ENSG00000172366 OTTHUMG00000048042 uc002cic.2 BC001912 NM_138418 CCDS10415 Q9BUT9 26184334 MGI:1915491 RGD:1592603 HGNC:14142 "ENST00000307650.9|NM_138418.4" +HGNC:49629 MCRIP2P1 MAPK regulated corepressor interacting protein 2 pseudogene 1 pseudogene pseudogene Approved Xq26.2 Xq26.2 FAM195CP family with sequence similarity 195, member C, pseudogene 2014-01-24 2016-04-15 2016-05-24 2016-05-24 102388891 ENSG00000241418 OTTHUMG00000022416 NG_033826 PGOHUM00000304853 HGNC:49629 +HGNC:49631 MCRIP2P2 MAPK regulated corepressor interacting protein 2 pseudogene 2 pseudogene pseudogene Approved 1q25.3 01q25.3 "FAM195DP|MCRIP2P1" "family with sequence similarity 195, member D, pseudogene|MAPK regulated co-repressor interacting protein 2 pseudogene 2" 2014-01-28 2016-04-15 2016-05-24 2016-05-24 106480278 ENSG00000270920 OTTHUMG00000184457 NG_044089 PGOHUM00000296692 HGNC:49631 +HGNC:6960 MCRS1 microspherule protein 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "ICP22BP|MSP58|P78|MCRS2|INO80Q" INO80 complex subunit Q "INO80 complex |NSL histone acetyltransferase complex" "595|1482" 1999-12-14 2020-04-01 10445 ENSG00000187778 OTTHUMG00000169620 uc001ruk.3 BC011794 NM_006337 "CCDS31795|CCDS8787|CCDS61118" Q96EZ8 "9765390|9654073" MGI:1858420 RGD:1311607 609504 HGNC:6960 "ENST00000343810.9|NM_006337.5" +HGNC:26183 MCTP1 multiple C2 and transmembrane domain containing 1 protein-coding gene gene with protein product Approved 5q15 05q15 FLJ22344 multiple C2 domains, transmembrane 1 Multiple C2 and transmembrane domain containing 826 2005-11-07 2016-01-22 2016-01-22 79772 ENSG00000175471 OTTHUMG00000162742 uc003kkx.4 NM_024717 "CCDS47247|CCDS75275|CCDS34203" Q6DN14 15528213 MGI:1926021 RGD:1305199 616296 HGNC:26183 "ENST00000515393.6|NM_024717.7" +HGNC:54085 MCTP1-AS1 MCTP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q15 05q15 ENST00000503710 Antisense RNAs 1987 2018-10-19 2018-10-19 113523641 ENSG00000249545 26131074 +HGNC:25636 MCTP2 multiple C2 and transmembrane domain containing 2 protein-coding gene gene with protein product Approved 15q26.2 15q26.2 "FLJ11175|FLJ33303" multiple C2 domains, transmembrane 2 Multiple C2 and transmembrane domain containing 826 2005-11-07 2016-06-28 2019-08-20 55784 ENSG00000140563 OTTHUMG00000171751 uc002btj.4 AK002037 NM_018349 "CCDS53975|CCDS53976|CCDS32338" Q6DN12 15528213 MGI:2685335 RGD:1562967 616297 369806 HGNC:25636 "ENST00000357742.10|NM_001385001.1" +HGNC:23357 MCTS1 MCTS1 re-initiation and release factor protein-coding gene gene with protein product Approved Xq24 Xq24 MCT-1 multiple copies in T-cell lymphoma-1 "malignant T-cell amplified sequence 1|MCTS1, re-initiation and release factor" 2003-11-17 2019-01-22 2019-01-22 28985 ENSG00000232119 OTTHUMG00000022303 uc004esx.4 AB034206 NM_014060 "CCDS14601|CCDS48160" Q9ULC4 "9766643|16982740|25043021" MGI:1916245 RGD:1566390 300587 HGNC:23357 "ENST00000371317.10|NM_014060.3" +HGNC:49760 MCTS2 MCTS family member 2 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 psiMCT-1 MCTS2P "malignant T cell amplified sequence 2, pseudogene|MCTS family member 2, pseudogene" 2014-03-03 2021-11-18 2021-11-18 2021-11-18 100101490 ENSG00000101898 OTTHUMG00000032177 NM_001397496 "16815567|24402520" MGI:1913655 PGOHUM00000247641 HGNC:49760 +HGNC:23526 MCU mitochondrial calcium uniporter protein-coding gene gene with protein product Approved 10q22.1 10q22.1 FLJ46135 "C10orf42|CCDC109A" coiled-coil domain containing 109A MicroRNA protein coding host genes 1691 2003-11-21 2011-06-23 2011-06-23 2016-10-05 90550 ENSG00000156026 OTTHUMG00000018443 uc001jtc.3 BC034235 NM_138357 "CCDS59218|CCDS7317|CCDS59219" Q8NE86 "21685886|21685888" MGI:3026965 RGD:1589771 614197 HGNC:23526 "ENST00000373053.8|NM_138357.3" +HGNC:26076 MCUB mitochondrial calcium uniporter dominant negative subunit beta protein-coding gene gene with protein product Approved 4q25 04q25 FLJ20647 CCDC109B coiled-coil domain containing 109B 2006-05-22 2016-06-10 2019-11-26 2019-11-26 55013 ENSG00000005059 OTTHUMG00000161103 uc011cfs.3 BC002633 NM_017918 CCDS3683 Q9NWR8 23900286 MGI:1914065 RGD:1305326 HGNC:26076 "ENST00000394650.7|NM_017918.5" +HGNC:21097 MCUR1 mitochondrial calcium uniporter regulator 1 protein-coding gene gene with protein product Approved 6p23 06p23 FLJ20958 "C6orf79|CCDC90A" "chromosome 6 open reading frame 79|coiled-coil domain containing 90A" 2003-05-19 2013-03-13 2013-03-13 2014-11-19 63933 ENSG00000050393 OTTHUMG00000014279 uc003nbc.3 BC016850 NM_022102 CCDS35495 Q96AQ8 23178883 MGI:1923387 RGD:1307673 616952 HGNC:21097 "ENST00000379170.9|NM_001031713.4" +HGNC:1217 MCUR1P1 MCUR1 pseudogene 1 pseudogene pseudogene Approved 17p13.3 17p13.3 "C17orf23|CCDC90AP1" "chromosome 17 open reading frame 23|coiled-coil domain containing 90A pseudogene 1" 2000-05-05 2017-10-09 2017-10-09 2017-10-09 53383 ENSG00000262402 OTTHUMG00000177685 NG_033980 PGOHUM00000293937 HGNC:1217 +HGNC:53756 MCUR1P2 MCUR1 pseudogene 2 pseudogene pseudogene Approved 3q26.1 03q26.1 2017-10-09 2017-10-09 100420620 ENSG00000242326 OTTHUMG00000158169 NG_025655 PGOHUM00000299262 HGNC:53756 +HGNC:21163 MDC1 mediator of DNA damage checkpoint 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "NFBD1|KIAA0170|Em:AB023051.5" mediator of DNA-damage checkpoint 1 2003-05-21 2015-11-16 2016-10-05 9656 ENSG00000137337 OTTHUMG00000031075 uc003nrg.5 D79992 NM_014641 CCDS34384 Q14676 "10975465|12607005" MGI:3525201 RGD:1559468 607593 HGNC:21163 "ENST00000376406.8|NM_014641.3" +HGNC:39764 MDC1-AS1 MDC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 MDC1-AS MDC1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-21 2012-08-15 2018-07-27 106478956 ENSG00000224328 OTTHUMG00000133551 uc063mty.1 NR_133647 "25514464|27261595" MDC1-AS1 HGNC:39764 +HGNC:6967 MDFI MyoD family inhibitor protein-coding gene gene with protein product Approved 6p21.1 06p21.1 I-mfa inhibitor of MyoD family a 1997-10-17 2016-10-05 4188 ENSG00000112559 OTTHUMG00000014681 uc063okq.1 U78313 NM_005586 "CCDS75451|CCDS4857" Q99750 "9250874|17289077" MGI:107687 RGD:1560271 604971 HGNC:6967 "ENST00000230321.11|NM_005586.4" +HGNC:28870 MDFIC MyoD family inhibitor domain containing protein-coding gene gene with protein product Approved 7q31.1-q31.2 07q31.1-q31.2 "HIC|MDFIC1" 2005-02-22 2018-02-13 29969 ENSG00000135272 OTTHUMG00000023647 uc064hfm.1 AF054589 NM_199072 "CCDS34737|CCDS55155" Q9P1T7 10671520 MGI:104611 RGD:1309532 614511 470646 HGNC:28870 "ENST00000393486.6|NM_001166345.3" +HGNC:53442 MDFIC2 MyoD family inhibitor domain containing 2 protein-coding gene gene with protein product Approved 3p13 03p13 2017-04-13 2017-04-13 107986096 ENSG00000242120 OTTHUMG00000158801 NM_001364676 A0A1B0GVS7 MGI:2685611 RGD:2323009 HGNC:53442 "ENST00000567252.2|NM_001364677.1" +HGNC:19267 MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "GPIM|MAMDC3" I-set domain containing 593 2002-10-08 2016-10-05 266727 ENSG00000112139 OTTHUMG00000014626 uc003onu.2 AF478693 NM_153487 CCDS47417 Q8NFP4 "15922729|15019943" MGI:1922012 RGD:1307031 609626 HGNC:19267 "ENST00000434837.8|NM_153487.4" +HGNC:19835 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 MAMDC1 MAM domain containing 1 I-set domain containing 593 2002-11-27 2007-04-03 2007-04-03 2016-10-05 161357 ENSG00000139915 OTTHUMG00000029429 uc001wwj.6 AI859192 NM_182830 CCDS41948 Q7Z553 15019943 MGI:2444706 RGD:735131 611128 HGNC:19835 "ENST00000399232.8|NM_001113498.3" +HGNC:6970 MDH1 malate dehydrogenase 1 protein-coding gene gene with protein product Approved 2p15 02p15 malate dehydrogenase 1, NAD (soluble) 2001-06-22 2015-11-13 2016-10-05 4190 ENSG00000014641 OTTHUMG00000129512 uc002scj.3 NM_001316374 "CCDS1874|CCDS56122|CCDS56121" P40925 MGI:97051 RGD:3072 154200 1.1.1.37 HGNC:6970 "ENST00000233114.13|NM_005917.4" HGNC:6970 +HGNC:17836 MDH1B malate dehydrogenase 1B protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "FLJ25341|RP11-95H11" malate dehydrogenase 1B, NAD (soluble) 2002-01-29 2015-11-13 2015-11-13 130752 ENSG00000138400 OTTHUMG00000132918 uc002vbs.5 NM_001039845 "CCDS82561|CCDS33365|CCDS63102" Q5I0G3 MGI:1923918 RGD:1307874 HGNC:17836 "ENST00000374412.8|NM_001039845.3" +HGNC:54968 MDH1P1 MDH1 pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 2020-05-13 2020-05-13 392477 ENSG00000227427 NG_022662 +HGNC:54969 MDH1P2 MDH1 pseudogene 2 pseudogene pseudogene Approved 6p22.3 06p22.3 2020-05-13 2020-05-13 644906 ENSG00000217585 NG_022346 +HGNC:6971 MDH2 malate dehydrogenase 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 malate dehydrogenase 2, NAD (mitochondrial) 1986-01-01 2015-11-13 2021-05-26 4191 ENSG00000146701 OTTHUMG00000023827 uc003ueo.5 NM_005918 "CCDS64691|CCDS75622|CCDS5581" P40926 MGI:97050 RGD:619719 154100 470648 1.1.1.37 HGNC:6971 "ENST00000315758.10|NM_005918.4" HGNC:6971 +HGNC:6972 MDK midkine protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "MK|FLJ27379" NEGF2 neurite growth-promoting factor 2 1991-07-10 2017-08-04 2017-08-04 4192 ENSG00000110492 OTTHUMG00000150315 uc031qav.2 NM_001012334 "CCDS59226|CCDS7919" P21741 8406506 MGI:96949 RGD:69073 162096 HGNC:6972 "ENST00000395566.9|NM_002391.6" +HGNC:29917 MDM1 Mdm1 nuclear protein protein-coding gene gene with protein product Approved 12q15 12q15 "Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)|Mdm1 nuclear protein homolog (mouse)" 2004-12-20 2015-06-19 2019-08-20 56890 ENSG00000111554 OTTHUMG00000169136 uc001stz.3 AF007130 NM_020128 "CCDS44938|CCDS8983|CCDS55841|CCDS55842" Q8TC05 "8619474|9110174" MGI:96951 RGD:1561092 613813 HGNC:29917 "ENST00000682720.1|NM_001354969.2" HGNC:29917 +HGNC:6973 MDM2 MDM2 proto-oncogene protein-coding gene gene with protein product Approved 12q15 12q15 "HDM2|MGC5370" "mouse double minute 2, human homolog of; p53-binding protein|Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)|Mdm2 p53 binding protein homolog (mouse)|MDM2 proto-oncogene, E3 ubiquitin protein ligase" "Ring finger proteins|Zinc fingers RANBP2-type " "58|89" 1993-12-10 2016-03-14 2020-06-09 4193 ENSG00000135679 OTTHUMG00000142827 uc001sui.6 NM_002392 "CCDS61189|CCDS8986" Q00987 "1614537|16905769|29123033" MGI:96952 RGD:1305332 MDM2 164785 321350 objectId:3136 HGNC:6973 "ENST00000258149.11|NM_002392.6" +HGNC:6974 MDM4 MDM4 regulator of p53 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "MDMX|HDMX" "mouse double minute 4, human homolog of; p53-binding protein|Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)|Mdm4 p53 binding protein homolog (mouse)|MDM4, p53 regulator" Ring finger proteins 58 1997-09-05 2019-01-25 2019-01-25 4194 ENSG00000198625 OTTHUMG00000035877 uc001hba.4 AF007111 NM_002393 "CCDS1447|CCDS55674|CCDS55675|CCDS60396|CCDS73009|CCDS73007|CCDS73008" O15151 "9226370|14660608|26798135" MGI:107934 RGD:1309306 MDM4 602704 HGNC:6974 "ENST00000367182.8|NM_002393.5" +HGNC:54898 MDM4P1 MDM4 pseudogene 1 pseudogene pseudogene Approved Xp22.13 Xp22.13 2020-04-17 2020-04-17 100533712 ENSG00000225066 NG_028795 +HGNC:18302 MDN1 midasin AAA ATPase 1 protein-coding gene gene with protein product Approved 6q15 06q15 "KIAA0301|Rea1" MDN1, midasin homolog (yeast) AAA ATPases 413 2002-03-12 2015-06-26 2015-08-25 23195 ENSG00000112159 OTTHUMG00000015213 uc003pnn.2 AF503925 NM_014611 CCDS5024 Q9NU22 12102729 MGI:1926159 RGD:1306394 618200 HGNC:18302 "ENST00000369393.8|NM_014611.3" +HGNC:40837 MDN1-AS1 MDN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q15 06q15 Antisense RNAs 1987 2021-07-29 2021-07-29 101929057 ENSG00000228124 OTTHUMG00000015204 NR_111915 +HGNC:28781 MDP1 magnesium dependent phosphatase 1 protein-coding gene gene with protein product Approved 14q12 14q12 "MGC5987|FN6Pase" fructosamine-6-phosphatase HAD Asp-based protein phosphatases 702 2009-07-09 2016-06-08 2016-06-08 145553 ENSG00000213920 OTTHUMG00000133477 uc001wnl.3 BC046912 NM_138476 "CCDS55908|CCDS9620" Q86V88 "10889041|16670083" MGI:1915131 RGD:1311147 HGNC:28781 "ENST00000288087.12|NM_138476.4" +HGNC:29633 MDS2 myelodysplastic syndrome 2 translocation associated non-coding RNA RNA, long non-coding Approved 1p36 01p36 Long non-coding RNAs with non-systematic symbols 1992 2005-05-24 2021-02-11 259283 ENSG00000197880 OTTHUMG00000002927 uc057dgf.1 AJ310434 NR_167901 Q8NDY4 12203785 607305 HGNC:29633 +HGNC:6983 ME1 malic enzyme 1 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 "malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+))|NADP-dependent malic enzyme" malic enzyme 1, NADP(+)-dependent, cytosolic 2001-06-22 2016-04-06 2016-10-05 4199 ENSG00000065833 OTTHUMG00000015111 uc003pjy.4 X77244 NM_002395 CCDS34492 P48163 8187880 MGI:97043 RGD:3074 154250 1.1.1.40 HGNC:6983 "ENST00000369705.4|NM_002395.6" +HGNC:6984 ME2 malic enzyme 2 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "NAD-dependent malic enzyme, mitochondrial|malate dehydrogenase (oxaloacetate-decarboxylating)" malic enzyme 2, NAD(+)-dependent, mitochondrial 2001-06-22 2016-04-06 2016-10-05 4200 ENSG00000082212 OTTHUMG00000132694 uc002ley.4 M55905 NM_002396 "CCDS11948|CCDS54187" P23368 1993674 MGI:2147351 RGD:1310321 154270 1.1.1.38 HGNC:6984 "ENST00000321341.11|NM_002396.5" HGNC:6984 +HGNC:49809 ME2P1 malic enzyme 2 pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 malic enzyme 2, NAD(+)-dependent, mitochondrial pseudogene 1 2014-03-06 2016-04-29 2016-04-29 286239 ENSG00000230097 OTTHUMG00000019724 NG_016134 PGOHUM00000235999 HGNC:49809 +HGNC:6985 ME3 malic enzyme 3 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 malate dehydrogenase (oxaloacetate-decarboxylating) (NADP(+)) malic enzyme 3, NADP(+)-dependent, mitochondrial 2000-01-12 2016-04-29 2016-04-29 10873 ENSG00000151376 OTTHUMG00000167217 uc009yvk.4 X79440 NM_001014811 CCDS8277 Q16798 7818469 MGI:1916679 RGD:1311070 604626 1.1.1.40 HGNC:6985 +HGNC:54182 ME3-DT ME3 divergent transcript non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 Divergent transcripts 1990 2019-02-14 2019-02-14 107984427 "HY100036|HY077587" HGNC:54182 +HGNC:6986 MEA1 male-enhanced antigen 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MEA male-enhanced antigen 1995-08-29 2005-06-02 2005-06-02 2016-10-05 4201 ENSG00000124733 OTTHUMG00000014717 uc003otk.4 NM_001318942 "CCDS87406|CCDS87405|CCDS4879" Q16626 "2813404|12444059" MGI:96957 RGD:1597751 143170 HGNC:6986 "ENST00000244711.4|NM_014623.4" +HGNC:25674 MEAF6 MYST/Esa1 associated factor 6 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "NY-SAR-91|FLJ11730|Eaf6|CENP-28" "Esa1p-associated factor 6 homolog (S. cerevisiae)|centromere protein 28" C1orf149 "chromosome 1 open reading frame 149|MYST/Esa1-associated factor 6" "Tip60/Nua4 histone acetyltransferase complex subunits|MicroRNA protein coding host genes" "1634|1691" 2005-07-13 2009-07-13 2016-03-09 2016-10-05 64769 ENSG00000163875 OTTHUMG00000004223 uc001cbe.4 BC016328 NM_022756 "CCDS418|CCDS59195|CCDS59196" Q9HAF1 "8619474|9110174|12963728|14966270|16387653" MGI:1917338 RGD:1310440 611001 HGNC:25674 "ENST00000296214.10|NM_001270875.3" +HGNC:42660 MEAF6P1 MYST/Esa1-associated factor 6 pseudogene 1 pseudogene pseudogene Approved 2q34 02q34 2011-08-12 2011-08-12 100874045 ENSG00000240286 OTTHUMG00000154706 NG_032529 PGOHUM00000241097 HGNC:42660 +HGNC:29325 MEAK7 MTOR associated protein, eak-7 homolog protein-coding gene gene with protein product Approved 16q24.1 16q24.1 mEAK-7 "TLD domain containing 1|mammalian EAK-7" "KIAA1609|TLDC1" "KIAA1609|TBC/LysM-associated domain containing 1" TLDc domain containing 2055 2006-04-07 2018-07-20 2018-07-20 2018-07-20 57707 ENSG00000140950 OTTHUMG00000176739 uc059xwo.1 AB046829 NM_020947 CCDS32498 Q6P9B6 "26668325|29750193" MGI:1921597 RGD:1308461 619331 HGNC:29325 "ENST00000343629.11|NM_020947.4" +HGNC:3498 MECOM MDS1 and EVI1 complex locus protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "MDS1-EVI1|PRDM3|KMT8E" PR domain 3 "MDS1|EVI1" "myelodysplasia syndrome 1|ecotropic viral integration site 1" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family" "28|487|1197" 1990-07-10 2009-08-07 2009-08-07 2021-04-13 2122 ENSG00000085276 OTTHUMG00000158596 uc003ffi.3 "S82592|AF164154" "NM_005241|NM_004991" "CCDS3205|CCDS54669|CCDS54670" Q03112 "2115646|8171026|8643684" MGI:95457 RGD:1310997 LRG_1118|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1118.xml MECOM 165215 160253 HGNC:3498 "ENST00000651503.2|NM_004991.4" HGNC:3498 +HGNC:40368 MECOM-AS1 MECOM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.2 03q26.2 Antisense RNAs 1987 2019-08-16 2019-08-16 105374205 ENSG00000241479 OTTHUMG00000158687 NR_134932 HGNC:40368 +HGNC:6990 MECP2 methyl-CpG binding protein 2 protein-coding gene gene with protein product Approved Xq28 Xq28 "RTT|MRX16|MRX79" "mental retardation, X-linked 16|mental retardation, X-linked 79|Rett syndrome|methyl CpG binding protein 2 (Rett syndrome)|methyl CpG binding protein 2" Methyl-CpG binding domain containing 1025 1996-09-03 2015-11-13 2021-05-26 4204 ENSG00000169057 OTTHUMG00000024229 uc004fjv.3 AF158180 NM_004992 "CCDS14741|CCDS48193" P51608 "1606614|10508514" MGI:99918 RGD:3075 "RettBASE|http://mecp2.chw.edu.au/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MECP2|LRG_764|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_764.xml" 300005 123186 HGNC:6990 "ENST00000453960.7|NM_001110792.2" HGNC:6990 +HGNC:19691 MECR mitochondrial trans-2-enoyl-CoA reductase protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "CGI-63|NRBF1|FASN2B|ETR1" "nuclear receptor binding factor 1|mitochondrial 2-enoyl thioester reductase" 2005-05-24 2017-02-02 51102 ENSG00000116353 OTTHUMG00000059082 uc001brq.3 NM_016011 "CCDS30659|CCDS30660" Q9BV79 "9795230|12654921" MGI:1349441 RGD:3208 608205 1.3.1.38 HGNC:19691 "ENST00000263702.11|NM_016011.5" HGNC:19691 +HGNC:9234 MED1 mediator complex subunit 1 protein-coding gene gene with protein product Approved 17q12 17q12 "PBP|TRAP220|RB18A|DRIP230|CRSP200|CRSP1" "TRIP2|PPARGBP|PPARBP" PPAR binding protein Mediator complex 1061 1998-07-15 2007-07-30 2007-07-30 2020-11-17 5469 ENSG00000125686 OTTHUMG00000133216 uc002hrv.5 L40366 NM_004774 CCDS11336 Q15648 "9325263|10485914" MGI:1100846 RGD:1559552 604311 HGNC:9234 "ENST00000300651.11|NM_004774.4" +HGNC:17903 MED4 mediator complex subunit 4 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "HSPC126|DRIP36|TRAP36" VDRIP "vitamin D receptor interacting protein|mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)" Mediator complex 1061 2003-05-23 2004-11-09 2007-07-30 2016-10-05 29079 ENSG00000136146 OTTHUMG00000016891 uc001vby.3 AF161475 NM_014166 "CCDS9408|CCDS59241" Q9NPJ6 "10235266|11042152" MGI:1914631 RGD:1306671 605718 HGNC:17903 "ENST00000258648.7|NM_014166.4" +HGNC:39213 MED4-AS1 MED4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 MED4-AS "MED4 antisense RNA (non-protein coding)|MED4 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-11-23 2010-11-25 2012-08-15 2012-10-12 100873965 ENSG00000229111 OTTHUMG00000016893 uc031qlm.2 NR_046511 MED4-AS1 HGNC:39213 +HGNC:19970 MED6 mediator complex subunit 6 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 NY-REN-28 mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae) Mediator complex 1061 2002-12-09 2007-07-30 2016-10-05 10001 ENSG00000133997 OTTHUMG00000171252 uc001xmf.5 BC004106 NM_005466 "CCDS61483|CCDS73649|CCDS61484|CCDS9805" O75586 "9234719|9671713" MGI:1917042 RGD:1310296 602984 HGNC:19970 "ENST00000256379.10|NM_005466.4" +HGNC:45164 MED6P1 mediator complex subunit 6 pseudogene 1 pseudogene pseudogene Approved 10q23.31 10q23.31 2013-02-28 2013-02-28 100128990 ENSG00000227905 OTTHUMG00000018689 NG_022151 PGOHUM00000238574 HGNC:45164 +HGNC:2378 MED7 mediator complex subunit 7 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 CRSP33 CRSP9 cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa Mediator complex 1061 1999-07-21 2007-07-30 2007-07-30 2014-11-19 9443 ENSG00000155868 OTTHUMG00000130243 uc003lwm.5 AF104251 NM_004270 CCDS4334 O43513 9989412 MGI:1913463 RGD:6494481 605045 HGNC:2378 "ENST00000286317.6|NM_004270.5" +HGNC:19971 MED8 mediator complex subunit 8 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "MGC17544|MGC19641|ARC32" mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae) Mediator complex 1061 2002-12-09 2007-07-30 2016-10-05 112950 ENSG00000159479 OTTHUMG00000007421 uc001cjg.6 "AF521562|BC010543" NM_052877 "CCDS60108|CCDS486|CCDS487" Q96G25 "12149480|9671713" MGI:1915269 607956 HGNC:19971 "ENST00000372457.9|NM_201542.5" +HGNC:40908 MED8-AS1 MED8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Antisense RNAs 1987 2019-08-16 2019-08-16 107984947 ENSG00000229431 OTTHUMG00000037499 XR_001738027 HGNC:40908 +HGNC:25487 MED9 mediator complex subunit 9 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLJ10193|MED25" mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae) Mediator complex 1061 2004-11-09 2007-07-30 2014-11-19 55090 ENSG00000141026 OTTHUMG00000059293 uc002grh.2 BC000647 NM_018019 CCDS11184 Q9NWA0 11997338 MGI:2183151 RGD:1563669 609878 HGNC:25487 "ENST00000268711.4|NM_018019.3" +HGNC:28760 MED10 mediator complex subunit 10 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 "TRG20|L6|MGC5309|NUT2" NUT2 homolog (S. cerevisiae) mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae) Mediator complex 1061 2006-04-05 2007-07-30 2015-08-25 84246 ENSG00000133398 OTTHUMG00000161682 uc003jdo.4 NM_032286 CCDS34134 Q9BTT4 "15657623|15175163" MGI:106331 RGD:1310128 612382 HGNC:28760 "ENST00000255764.4|NM_032286.3" +HGNC:32687 MED11 mediator complex subunit 11 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "HSPC296|MGC88387" mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae) Mediator complex 1061 2006-04-05 2007-07-30 2019-08-20 400569 ENSG00000161920 OTTHUMG00000177896 uc002fyp.4 AF161414 NM_001001683 "CCDS32533|CCDS76920" Q9P086 "15175163|12584197" MGI:1913422 RGD:1563202 612383 HGNC:32687 "ENST00000293777.6|NM_001001683.4" +HGNC:11957 MED12 mediator complex subunit 12 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "CAGH45|HOPA|OPA1|TRAP230|KIAA0192|OKS|ARC240|Kto" Kohtalo homolog "TNRC11|FGS1" "trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)|mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)|FG syndrome 1" Mediator complex 1061 2000-01-27 2004-11-26 2007-07-30 2021-05-26 9968 ENSG00000184634 OTTHUMG00000021788 uc004dyy.4 U80742 NM_005120 CCDS43970 Q93074 "9225980|10198638|17334363|20507344" MGI:1926212 RGD:1585896 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MED12 MED12 300188 138486 HGNC:11957 "ENST00000374080.8|NM_005120.3" HGNC:11957 +HGNC:16050 MED12L mediator complex subunit 12L protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "KIAA1635|TNRC11L|TRALPUSH|TRALP" "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like|mediator complex subunit 12 like" Mediator complex 1061 2004-11-24 2019-04-12 2019-04-12 116931 ENSG00000144893 OTTHUMG00000159844 uc003eyp.4 "AB046855|AF388364" NM_053002 CCDS33876 Q86YW9 11524702 MGI:2139916 RGD:1592212 611318 HGNC:16050 "ENST00000687756.1|NM_001393769.1" HGNC:16050 +HGNC:22474 MED13 mediator complex subunit 13 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "KIAA0593|TRAP240" THRAP1 thyroid hormone receptor associated protein 1 Mediator complex 1061 2004-03-10 2007-07-30 2007-07-30 2021-05-26 9969 ENSG00000108510 OTTHUMG00000179251 uc002izo.3 AB011165 NM_005121 CCDS42366 Q9UHV7 1019863 MGI:3029632 RGD:1304829 603808 HGNC:22474 "ENST00000397786.7|NM_005121.3" HGNC:22474 +HGNC:22962 MED13L mediator complex subunit 13L protein-coding gene gene with protein product Approved 12q24.21 12q24.21 "KIAA1025|TRAP240L" THRAP2 "thyroid hormone receptor associated protein 2|mediator complex subunit 13 like" "Mediator complex|MicroRNA protein coding host genes" "1061|1691" 2004-01-30 2007-07-30 2019-04-12 2021-05-26 23389 ENSG00000123066 OTTHUMG00000169404 uc001tvw.4 AB028948 NM_015335 CCDS9177 Q71F56 MGI:2670178 RGD:1305884 608771 159456 HGNC:22962 "ENST00000281928.9|NM_015335.5" HGNC:22962 +HGNC:38733 MED13P1 mediator complex subunit 13 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 2010-07-29 2014-11-18 100499481 ENSG00000236131 OTTHUMG00000036619 NG_023546 PGOHUM00000233965 HGNC:38733 +HGNC:2370 MED14 mediator complex subunit 14 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "EXLM1|CRSP150|TRAP170|RGR1|CSRP" "CXorf4|CRSP2" cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa Mediator complex 1061 1998-10-02 2007-07-30 2007-07-30 2020-04-02 9282 ENSG00000180182 OTTHUMG00000024107 uc004dex.5 AB006651 NM_004229 CCDS14254 O60244 "9989412|9598311" MGI:1349442 RGD:1560170 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MED14 300182 HGNC:2370 "ENST00000324817.6|NM_004229.4" +HGNC:40162 MED14OS MED14 opposite strand protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 MED14-AS1 "MED14 antisense RNA 1 (non-protein coding)|MED14 antisense RNA 1" 2011-07-29 2014-02-10 2014-02-10 2017-01-27 100873985 ENSG00000234636 OTTHUMG00000024106 NM_001289773 P0DP75 HGNC:40162 +HGNC:2371 MED14P1 mediator complex subunit 14 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 "CXorf4P|CRSP2P|MED14P" "cofactor required for Sp1 transcriptional activation, subunit 2, pseudogene|mediator complex subunit 14 pseudogene" 1999-05-17 2010-02-25 2010-02-25 2020-04-20 359791 ENSG00000233774 OTTHUMG00000036467 NG_002807 HGNC:2371 +HGNC:14248 MED15 mediator complex subunit 15 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "TIG-1|CAG7A|Arc105" "TNRC7|PCQAP" "trinucleotide repeat containing 7|PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein" Mediator complex 1061 2001-07-13 2007-07-30 2007-07-30 2016-10-05 51586 ENSG00000099917 OTTHUMG00000150810 uc002zsq.4 AF056191 NM_015889 "CCDS77653|CCDS74824|CCDS33602|CCDS13781" Q96RN5 "11024300|11414760|15175163" MGI:2137379 RGD:1307560 607372 HGNC:14248 "ENST00000263205.11|NM_001003891.3" +HGNC:19271 MED15P1 mediator complex subunit 15 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 "PCQAPP|MED15P" "PCQAP pseudogene|mediator complex subunit 15 pseudogene" 2003-01-13 2010-02-25 2010-02-25 2013-06-03 326615 ENSG00000257853 OTTHUMG00000170337 NG_002605 PGOHUM00000250102 HGNC:19271 +HGNC:48652 MED15P3 mediator complex subunit 15 pseudogene 3 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-06-03 2013-06-03 106481657 ENSG00000226831 OTTHUMG00000153598 NG_045203 PGOHUM00000240325 HGNC:48652 +HGNC:48653 MED15P4 mediator complex subunit 15 pseudogene 4 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-06-03 2013-06-03 100127989 ENSG00000224679 OTTHUMG00000153622 NG_023317 PGOHUM00000240331 HGNC:48653 +HGNC:48654 MED15P5 mediator complex subunit 15 pseudogene 5 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-06-03 2013-06-03 391436 ENSG00000236595 OTTHUMG00000153750 NG_021585 PGOHUM00000240917 HGNC:48654 +HGNC:48655 MED15P6 mediator complex subunit 15 pseudogene 6 pseudogene pseudogene Approved 14q11.2 14q11.2 2013-06-03 2013-06-03 100996438 ENSG00000257162 OTTHUMG00000170543 PGOHUM00000248026 HGNC:48655 +HGNC:48656 MED15P7 mediator complex subunit 15 pseudogene 7 pseudogene pseudogene Approved 22q11.1 22q11.1 2013-06-03 2013-06-03 100996466 ENSG00000234381 OTTHUMG00000140336 PGOHUM00000250332 HGNC:48656 +HGNC:48657 MED15P8 mediator complex subunit 15 pseudogene 8 pseudogene pseudogene Approved 2q21.1 02q21.1 2013-06-03 2013-06-03 106480229 ENSG00000248796 OTTHUMG00000153535 NG_043725 PGOHUM00000250446 HGNC:48657 +HGNC:44130 MED15P9 mediator complex subunit 15 pseudogene 9 pseudogene pseudogene Approved 2q21.1 02q21.1 "CCDC74B-AS1|MED15P2" "CCDC74B antisense RNA 1 (non-protein coding)|CCDC74B antisense RNA 1|mediator complex subunit 15 pseudogene 2" 2012-06-23 2013-08-13 2013-08-13 2015-02-04 285103 ENSG00000223760 OTTHUMG00000153627 BC036597 NR_033903 HGNC:44130 +HGNC:17556 MED16 mediator complex subunit 16 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "DRIP92|TRAP95" THRAP5 thyroid hormone receptor associated protein 5 "WD repeat domain containing|Mediator complex" "362|1061" 2004-01-30 2007-07-30 2007-07-30 2019-08-21 10025 ENSG00000175221 OTTHUMG00000181841 uc002lqd.2 AF121228 NM_005481 CCDS12047 Q9Y2X0 "10235266|10198638" MGI:2158394 RGD:1308001 604062 HGNC:17556 "ENST00000325464.6|NM_005481.3" +HGNC:2375 MED17 mediator complex subunit 17 protein-coding gene gene with protein product Approved 11q21 11q21 "CRSP77|TRAP80|DRIP80|SRB4" CRSP6 "cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)|cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa" Mediator complex 1061 1999-07-21 2007-07-30 2007-07-30 2021-05-26 9440 ENSG00000042429 OTTHUMG00000167497 uc001pem.5 AF104254 NM_004268 CCDS8295 Q9NVC6 "9989412|10198638" MGI:2182585 RGD:1311120 603810 407507 HGNC:2375 "ENST00000251871.9|NM_004268.5" HGNC:2375 +HGNC:25944 MED18 mediator complex subunit 18 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "FLJ20045|p28b|SRB5" mediator of RNA polymerase II transcription, subunit 18 homolog (S. cerevisiae) Mediator complex 1061 2004-11-09 2007-07-30 2017-06-12 54797 ENSG00000130772 OTTHUMG00000003537 uc001bpt.5 BC002694 NM_017638 CCDS322 Q9BUE0 15175163 MGI:1914469 RGD:1592757 612384 HGNC:25944 "ENST00000373842.9|NM_017638.3" +HGNC:29600 MED19 mediator complex subunit 19 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 LCMR1 mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae) Mediator complex 1061 2004-11-09 2007-07-30 2014-11-19 219541 ENSG00000156603 OTTHUMG00000167199 uc001nla.2 AY148462 NM_153450 "CCDS7966|CCDS86203" A0JLT2 9417904 MGI:1914234 RGD:1311926 612385 HGNC:29600 +HGNC:16840 MED20 mediator complex subunit 20 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "DKFZp586D2223|PRO0213|SRB2" TRFP Trf (TATA binding protein-related factor)-proximal homolog (Drosophila) Mediator complex 1061 2003-08-26 2007-07-30 2007-07-30 2017-06-12 9477 ENSG00000124641 OTTHUMG00000014689 uc003ork.4 AF097725 NM_004275 "CCDS4862|CCDS83085" Q9H944 "9933582|15175163" MGI:1929648 RGD:1306415 612915 470650 HGNC:16840 "ENST00000265350.9|NM_004275.5" +HGNC:11473 MED21 mediator complex subunit 21 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 SRB7 SURB7 "SRB7 (suppressor of RNA polymerase B, yeast) homolog|SRB7 suppressor of RNA polymerase B homolog (yeast)" Mediator complex 1061 1999-03-10 2007-07-30 2007-07-30 2019-08-21 9412 ENSG00000152944 OTTHUMG00000169276 uc001rhp.3 U46837 NM_004264 CCDS8711 Q13503 8598913 MGI:1347064 RGD:1309836 603800 HGNC:11473 "ENST00000282892.4|NM_004264.5" +HGNC:11477 MED22 mediator complex subunit 22 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "Med24|SRB6" SURF5 surfeit 5 Mediator complex 1061 1993-06-23 2007-07-30 2007-07-30 2017-06-12 6837 ENSG00000148297 OTTHUMG00000020869 uc064wue.1 NM_133640 "CCDS6964|CCDS6963" Q15528 "8499913|15175163" MGI:98446 RGD:1564893 185641 HGNC:11477 "ENST00000343730.10|NM_133640.5" +HGNC:2372 MED23 mediator complex subunit 23 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "CRSP130|DRIP130|Sur2" "CRSP3|MRT18" "cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa|mental retardation, non-syndromic, autosomal recessive, 18" Mediator complex 1061 1999-07-21 2007-07-30 2007-08-08 2021-05-26 9439 ENSG00000112282 OTTHUMG00000015565 uc003qcs.3 AF104255 NM_001270521 "CCDS5146|CCDS59039|CCDS5147" Q9ULK4 "9989412|30847200" MGI:1917458 RGD:1307671 605042 279764 HGNC:2372 "ENST00000368068.8|NM_004830.4" HGNC:2372 +HGNC:22963 MED24 mediator complex subunit 24 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "TRAP100|KIAA0130|DRIP100|CRSP100|MED5" "THRAP4|CRSP4" "thyroid hormone receptor associated protein 4|cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa" "Mediator complex|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1061|1691|1835" 2004-01-30 2007-07-30 2007-07-30 2016-10-05 9862 ENSG00000008838 OTTHUMG00000133329 uc002htt.4 AF055995 NM_014815 "CCDS11359|CCDS42315|CCDS82117" O75448 MGI:1344385 RGD:1564565 607000 HGNC:22963 "ENST00000394128.7|NM_014815.4" +HGNC:28845 MED25 mediator complex subunit 25 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "ARC92|ACID1|TCBAP0758|DKFZp434K0512" mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae) "Mediator complex|MicroRNA protein coding host genes" "1061|1691" 2004-11-09 2007-07-30 2021-05-26 81857 ENSG00000104973 OTTHUMG00000183161 uc002ppw.3 AL136746 NM_030973 CCDS33075 Q71SY5 "9110174|11230166" MGI:1922863 RGD:1305137 LRG_368|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_368.xml 610197 167742 HGNC:28845 "ENST00000312865.10|NM_030973.4" HGNC:28845 +HGNC:2376 MED26 mediator complex subunit 26 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 CRSP70 CRSP7 cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa Mediator complex 1061 1999-07-21 2007-07-30 2007-07-30 2019-08-21 9441 ENSG00000105085 OTTHUMG00000182433 uc002nen.2 AF104253 NM_004831 CCDS12347 O95402 9989412 MGI:1917875 RGD:1309524 605043 HGNC:2376 "ENST00000263390.8|NM_004831.5" +HGNC:2377 MED27 mediator complex subunit 27 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "TRAP37|CRSP34|MED3" CRSP8 cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa Mediator complex 1061 1999-07-21 2007-07-30 2007-07-30 2015-08-25 9442 ENSG00000160563 OTTHUMG00000020833 uc004cbe.3 AF104252 NM_004269 "CCDS59153|CCDS69689|CCDS6945" Q6P2C8 9989412 MGI:1916225 RGD:1564993 605044 HGNC:2377 "ENST00000292035.10|NM_004269.4" HGNC:2377 +HGNC:24628 MED28 mediator complex subunit 28 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "EG1|DKFZP434N185|magicin" mediator of RNA polymerase II transcription, subunit 28 homolog (S. cerevisiae) Mediator complex 1061 2004-11-09 2007-07-30 2016-10-05 80306 ENSG00000118579 OTTHUMG00000161980 uc003gpk.2 AF317678 NM_025205 CCDS33963 Q9H204 "11779215|15467741" MGI:1914249 RGD:1305875 610311 HGNC:24628 "ENST00000237380.12|NM_025205.5" +HGNC:55567 MED28-DT MED28 divergent transcript non-coding RNA RNA, long non-coding Approved 4p15.32 04p15.32 Divergent transcripts 1990 2021-04-14 2021-04-14 121232375 ENSG00000249502 +HGNC:45078 MED28P1 mediator complex subunit 28 pseudogene 1 pseudogene pseudogene Approved 10q22.1 10q22.1 2013-02-07 2013-06-06 100420207 ENSG00000214875 OTTHUMG00000018364 NG_025514 PGOHUM00000238829 HGNC:45078 +HGNC:45079 MED28P2 mediator complex subunit 28 pseudogene 2 pseudogene pseudogene Approved 3q24 03q24 2013-02-07 2013-02-07 106480445 ENSG00000240511 OTTHUMG00000159549 NG_043416 PGOHUM00000237810 HGNC:45079 +HGNC:45080 MED28P3 mediator complex subunit 28 pseudogene 3 pseudogene pseudogene Approved 2q32.1 02q32.1 2013-02-07 2013-02-07 100131051 ENSG00000227692 OTTHUMG00000154254 NG_021593 PGOHUM00000241040 HGNC:45080 +HGNC:45081 MED28P4 mediator complex subunit 28 pseudogene 4 pseudogene pseudogene Approved Xp11.3 Xp11.3 2013-02-07 2013-02-07 100130359 ENSG00000224701 OTTHUMG00000021412 NG_022594 PGOHUM00000241259 HGNC:45081 +HGNC:45082 MED28P5 mediator complex subunit 28 pseudogene 5 pseudogene pseudogene Approved 11q21 11q21 2013-02-07 2013-02-07 106479053 ENSG00000255205 OTTHUMG00000167667 NG_044525 PGOHUM00000242434 HGNC:45082 +HGNC:45083 MED28P6 mediator complex subunit 28 pseudogene 6 pseudogene pseudogene Approved 15q25.3 15q25.3 2013-02-07 2013-02-07 106480808 ENSG00000259183 OTTHUMG00000171833 NG_045772 PGOHUM00000246918 HGNC:45083 +HGNC:45084 MED28P7 mediator complex subunit 28 pseudogene 7 pseudogene pseudogene Approved 20p11.21 20p11.21 2013-02-07 2016-10-05 729327 ENSG00000236542 OTTHUMG00000032128 NG_021979 PGOHUM00000247476 HGNC:45084 +HGNC:45085 MED28P8 mediator complex subunit 28 pseudogene 8 pseudogene pseudogene Approved 1p31.1 01p31.1 2013-02-07 2013-02-07 101060144 ENSG00000242598 OTTHUMG00000009841 PGOHUM00000251067 HGNC:45085 +HGNC:23074 MED29 mediator complex subunit 29 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "DKFZp434H247|MED2" IXL intersex-like (Drosophila) Mediator complex 1061 2004-07-15 2007-07-30 2007-07-30 2020-04-01 55588 ENSG00000063322 OTTHUMG00000182969 uc002olf.4 "AL137304|AY729650" NM_017592 CCDS33021 Q9NX70 15555573 MGI:1914474 RGD:1311009 612914 HGNC:23074 "ENST00000315588.11|NM_017592.4" +HGNC:23032 MED30 mediator complex subunit 30 protein-coding gene gene with protein product Approved 8q24.11 08q24.11 TRAP25 THRAP6 thyroid hormone receptor associated protein 6 Mediator complex 1061 2004-01-30 2007-07-30 2007-07-30 2014-11-19 90390 ENSG00000164758 OTTHUMG00000164920 uc003yoj.4 AY083305 NM_080651 "CCDS64959|CCDS6323" Q96HR3 MGI:1917040 RGD:1309369 610237 HGNC:23032 "ENST00000297347.7|NM_080651.4" +HGNC:24260 MED31 mediator complex subunit 31 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "CGI-125|Soh1" mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae) Mediator complex 1061 2004-11-24 2007-07-30 2014-11-19 51003 ENSG00000108590 OTTHUMG00000102051 uc002gdg.5 AF151883 NM_016060 CCDS11078 Q9Y3C7 10810093 MGI:1914529 RGD:1309457 HGNC:24260 "ENST00000225728.8|NM_016060.3" +HGNC:25926 MEDAG mesenteric estrogen dependent adipogenesis protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "FLJ14834|AWMS3|MEDA-4" "mesenteric estrogen-dependent adipose 4|activated in W/Wv mouse stomach 3 homolog" C13orf33 "chromosome 13 open reading frame 33|mesenteric estrogen-dependent adipogenesis" 2006-08-08 2012-09-26 2016-04-05 2016-04-05 84935 ENSG00000102802 OTTHUMG00000016679 uc001uth.5 AB055407 NM_032849 CCDS9338 Q5VYS4 22510272 MGI:1917967 RGD:1307396 HGNC:25926 "ENST00000380482.9|NM_032849.4" +HGNC:6993 MEF2A myocyte enhancer factor 2A protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "RSRFC4|RSRFC9" "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2016-10-24 4205 ENSG00000068305 OTTHUMG00000171937 uc010bos.4 NM_001130926 "CCDS53978|CCDS45363|CCDS45362|CCDS58401|CCDS81920" Q02078 1516833 MGI:99532 RGD:1359360 600660 423048 HGNC:6993 "ENST00000557942.6|NM_001319206.4" +HGNC:6994 MEF2AP1 myocyte enhancer factor 2A pseudogene 1 pseudogene pseudogene Approved 1q25.2 01q25.2 MEF2AP myocyte enhancer factor 2A pseudogene 1996-04-12 2010-02-25 2010-02-25 2016-10-05 4206 ENSG00000224620 OTTHUMG00000035267 U44888 NG_003072 HGNC:6994 +HGNC:6995 MEF2B myocyte enhancer factor 2B protein-coding gene gene with protein product Approved 19p13.11 19p13.11 RSRFR2 "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2020-04-21 100271849 ENSG00000213999 OTTHUMG00000161595 uc002nlk.3 X63380 NM_005919 CCDS46024 Q02080 "1516833|8575763" MGI:104526 RGD:1561733 600661 HGNC:6995 "ENST00000424583.7|NM_001145785.2" +HGNC:6996 MEF2C myocyte enhancer factor 2C protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2021-05-26 4208 ENSG00000081189 OTTHUMG00000162634 uc003kjl.4 AL833268 NM_002397 "CCDS78030|CCDS87313|CCDS47245|CCDS78034|CCDS54877|CCDS47244|CCDS54878" Q06413 8455629 MGI:99458 RGD:1563119 600662 232232 HGNC:6996 "ENST00000504921.7|NM_002397.5" HGNC:6996 +HGNC:48908 MEF2C-AS1 MEF2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 Antisense RNAs 1987 2013-07-01 2020-04-20 101929423 ENSG00000248309 OTTHUMG00000162630 CD702404 NR_104031 23801869 MEF2C-AS1 HGNC:48908 +HGNC:53115 MEF2C-AS2 MEF2C antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 CTC-467M3.1 Antisense RNAs 1987 2017-02-10 2017-02-10 109729137 ENSG00000245864 OTTHUMG00000162629 NR_146284 28103885 HGNC:53115 +HGNC:6997 MEF2D myocyte enhancer factor 2D protein-coding gene gene with protein product Approved 1q22 01q22 "Myocyte enhancer factor 2 proteins|MADS box family" "649|1086" 1995-02-08 2007-04-24 2016-10-05 4209 ENSG00000116604 OTTHUMG00000033095 uc001fpc.5 BC054520 NM_005920 "CCDS60304|CCDS1143" Q14814 8269842 MGI:99533 RGD:621489 600663 HGNC:6997 "ENST00000348159.9|NM_005920.4" +HGNC:6998 MEFV MEFV innate immuity regulator, pyrin protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FMF|TRIM20" marenostrin MEF "Mediterranean fever|MEFV, pyrin innate immunity regulator" "Tripartite motif family|Pyrin domain containing" "59|994" 1989-10-30 2019-01-25 2021-05-26 4210 ENSG00000103313 OTTHUMG00000129324 uc002cun.1 AF018080 NM_000243 "CCDS55981|CCDS10498" O15553 "9288094|27066000" MGI:1859396 RGD:61889 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_190|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_190.xml" 608107 123191 HGNC:6998 "ENST00000219596.6|NM_000243.3" HGNC:6998 +HGNC:14575 MEG3 maternally expressed 3 non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 "GTL2|NCRNA00023|LINC00023|onco-lncRNA-83" "non-protein coding RNA 23|long intergenic non-protein coding RNA 23" "maternally expressed 3|maternally expressed 3 (non-protein coding)" "MicroRNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1992" 2001-02-08 2018-05-16 2021-04-13 55384 ENSG00000214548 OTTHUMG00000029052 uc059fga.1 AB032607 NR_002766 "10759892|23790166" MGI:1202886 LRG_1098|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1098.xml 605636 159158 MEG3 MEG3 HGNC:14575 +HGNC:14574 MEG8 maternally expressed 8, small nucleolar RNA host gene non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 "NCRNA00024|Irm|Rian|Bsr|LINC00024|AL132709.8|lnc-MGC" "non-protein coding RNA 24|RNA Imprinted and Accumulated in Nucleus|Imprinted RNA near Meg3/Gtl2|long intergenic non-protein coding RNA 24|lncRNA microRNA megacluster host gene" "SNHG23|SNHG24" "maternally expressed (in Callipyge) 8|small nucleolar RNA host gene 23|small nucleolar RNA host gene 23 (non-protein coding)|small nucleolar RNA host gene 24|small nucleolar RNA host gene 24 (non-protein coding)|maternally expressed 8 (non-protein coding)" "MicroRNA non-coding host genes|Small nucleolar RNA non-coding host genes" "1688|1839" 2001-02-21 2017-02-17 2021-04-13 79104 ENSG00000225746 OTTHUMG00000029060 uc059fgr.1 "CA396130|AW026953" NR_024149 "11481034|11337479|12045206|27686049" MGI:1922995 LRG_1058|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1058.xml 613648 Rian MEG8 HGNC:14574 +HGNC:43874 MEG9 maternally expressed 9 non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 LINC00584 long intergenic non-protein coding RNA 584 maternally expressed 9 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2012-04-01 2018-05-16 2018-08-23 100507257 ENSG00000223403 OTTHUMG00000029067 uc001yjz.3 "AK094562|AK021527" NR_047664 19194500 MEG9 MEG9 HGNC:43874 +HGNC:3232 MEGF6 multiple EGF like domains 6 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 EGFL3 "EGF-like-domain, multiple 3|multiple EGF-like-domains 6" MicroRNA protein coding host genes 1691 1998-03-25 2006-03-31 2016-01-21 2016-10-05 1953 ENSG00000162591 OTTHUMG00000000611 uc001akl.4 AB011539 NM_001409 CCDS41237 O75095 9693030 MGI:1919351 RGD:621188 604266 HGNC:3232 "ENST00000356575.9|NM_001409.4" +HGNC:3233 MEGF8 multiple EGF like domains 8 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "SBP1|FLJ22365" HBV pre s2 binding protein 1 "EGFL4|C19orf49" "EGF-like-domain, multiple 4|chromosome 19 open reading frame 49|multiple EGF-like-domains 8" MicroRNA protein coding host genes 1691 1998-03-25 2006-03-31 2016-01-21 2016-01-21 1954 ENSG00000105429 OTTHUMG00000150342 uc002otl.4 AB011541 NM_001410 "CCDS12604|CCDS62693" Q7Z7M0 9693030 MGI:2446294 RGD:621190 604267 318839 HGNC:3233 "ENST00000251268.11|NM_001271938.2" HGNC:3233 +HGNC:3234 MEGF9 multiple EGF like domains 9 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 EGFL5 "EGF-like-domain, multiple 5|multiple EGF-like-domains 9" 1998-03-25 2006-03-31 2016-01-21 2016-10-05 1955 ENSG00000106780 OTTHUMG00000021039 uc022bms.2 AB011542 NM_001080497 CCDS48010 Q9H1U4 9693030 MGI:1918264 RGD:1308330 604268 HGNC:3234 "ENST00000373930.4|NM_001080497.3" +HGNC:29634 MEGF10 multiple EGF like domains 10 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "KIAA1780|SR-F3" multiple EGF-like-domains 10 Scavenger receptors 1253 2006-03-31 2016-01-21 2021-05-26 84466 ENSG00000145794 OTTHUMG00000128984 uc003kui.5 AK021631 NM_032446 "CCDS78055|CCDS4142" Q96KG7 "11347906|27170117" MGI:2685177 RGD:735084 612453 292098 HGNC:29634 "ENST00000503335.7|NM_001256545.2" HGNC:29634 +HGNC:29635 MEGF11 multiple EGF like domains 11 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "KIAA1781|DKFZp434L121" multiple EGF-like-domains 11 2006-03-31 2016-01-21 2016-01-21 84465 ENSG00000157890 OTTHUMG00000133175 uc002apn.2 AB058677 NM_032445 CCDS10213 A6BM72 11347906 MGI:1920951 RGD:1582797 612454 HGNC:29635 "ENST00000395614.6|NM_001385028.1" +HGNC:28613 MEI1 meiotic double-stranded break formation protein 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "MGC40042|SPATA38" spermatogenesis associated 38 meiosis inhibitor 1 Armadillo like helical domain containing 1492 2007-10-04 2015-06-26 2015-06-26 150365 ENSG00000167077 OTTHUMG00000030083 uc003baz.2 AK092934 NM_152513 CCDS46718 Q5TIA1 "16683055|24710101" MGI:3028590 RGD:1307210 608797 HGNC:28613 "ENST00000401548.8|NM_152513.4" HGNC:28613 +HGNC:43638 MEI4 meiotic double-stranded break formation protein 4 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 meiosis-specific 4 homolog (S. cerevisiae) 2012-08-26 2015-06-26 2015-06-26 101928601 ENSG00000269964 OTTHUMG00000153472 uc032xbm.2 NM_001282136 CCDS64463 A8MW99 "20551173|24710101" MGI:1922283 RGD:1583682 618417 HGNC:43638 "ENST00000684080.1|NM_001322247.2" +HGNC:23429 MEIG1 meiosis/spermiogenesis associated 1 protein-coding gene gene with protein product Approved 10p13 10p13 "bA2K17.3|SPATA39" spermatogenesis associated 39 meiosis expressed gene 1 homolog (mouse) 2004-05-28 2013-08-05 2018-11-16 644890 ENSG00000197889 OTTHUMG00000017717 uc009xjk.1 NM_001080836 CCDS31151 Q5JSS6 23258628 MGI:1202878 RGD:1583655 614174 HGNC:23429 "ENST00000407572.6|NM_001080836.3" +HGNC:51253 MEIKIN meiotic kinetochore factor protein-coding gene gene with protein product Approved 5q31.1 05q31.1 SPO13 2015-01-15 2022-02-21 728637 ENSG00000239642 OTTHUMG00000059633 NM_001303622 CCDS75292 A0A087WXM9 25533956 MGI:1922097 RGD:1566120 616232 HGNC:51253 "ENST00000442687.6|NM_001303622.2" +HGNC:28569 MEIOB meiosis specific with OB-fold protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC35212 C16orf73 "chromosome 16 open reading frame 73|meiosis specific with OB domains" 2006-06-14 2012-08-13 2019-01-10 2019-01-10 254528 ENSG00000162039 OTTHUMG00000128683 uc002cne.3 BC029829 NM_152764 "CCDS10449|CCDS53983" Q8N635 28453612 MGI:1922428 RGD:1583204 617670 3.1.-.- HGNC:28569 "ENST00000325962.9|NM_001163560.3" HGNC:28569 +HGNC:26670 MEIOC meiosis specific with coiled-coil domain protein-coding gene gene with protein product Approved 17q21.31 17q21.31 FLJ35848 C17orf104 chromosome 17 open reading frame 104 2009-09-08 2015-10-23 2015-10-23 2016-04-25 284071 ENSG00000180336 OTTHUMG00000153039 uc002iha.4 NM_001145080 CCDS45703 A2RUB1 26742488 MGI:2686410 RGD:1563746 616934 HGNC:26670 "ENST00000409122.7|NM_001145080.3" +HGNC:44318 MEIOSIN meiosis initiator protein-coding gene gene with protein product Approved 19q13.32 19q13.32 HMGDC HMG domain containing BHMG1 "basic helix-loop-helix and HMG box domain containing 1|basic helix-loop-helix and HMG-box containing 1" 2014-08-29 2020-06-12 2020-06-12 2020-06-12 388553 ENSG00000237452 OTTHUMG00000156178 NM_001310124 CCDS82368 C9JSJ3 "23044541|32032549" MGI:3647482 RGD:7528935 HGNC:44318 "ENST00000457052.3|NM_001310124.2" +HGNC:7000 MEIS1 Meis homeobox 1 protein-coding gene gene with protein product Approved 2p14 02p14 "Meis1 (mouse) homolog|Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)" TALE class homeoboxes and pseudogenes 526 1996-12-17 2007-02-15 2015-09-03 4211 ENSG00000143995 OTTHUMG00000150714 uc002sdu.4 NM_002398 CCDS46309 O00470 7565694 MGI:104717 RGD:1585482 601739 8462 470652 HGNC:7000 "ENST00000272369.14|NM_002398.3" +HGNC:40370 MEIS1-AS2 MEIS1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2p14 02p14 MEIS1-AS1 "MEIS1 antisense RNA 2 (non-protein coding)|MEIS1 antisense RNA 1|MEIS1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2012-01-23 2012-08-15 2014-11-19 100873998 ENSG00000230749 OTTHUMG00000152831 uc061jwi.1 NR_046625 MEIS1-AS2 HGNC:40370 +HGNC:40369 MEIS1-AS3 MEIS1 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 2p14 02p14 MEIS1 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2014-11-19 730198 ENSG00000226819 OTTHUMG00000152832 uc031rof.2 "DA226783|DA702499" NR_046438 MEIS1-AS3 HGNC:40369 +HGNC:7001 MEIS2 Meis homeobox 2 protein-coding gene gene with protein product Approved 15q14 15q14 "MRG1|HsT18361" "Meis (mouse) homolog 2|Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)" "TALE class homeoboxes and pseudogenes|MicroRNA protein coding host genes" "526|1691" 1998-02-09 2007-02-15 2021-05-26 4212 ENSG00000134138 OTTHUMG00000129781 uc001zjo.5 AF017418 NM_170677 "CCDS42014|CCDS45220|CCDS45219|CCDS45218|CCDS45217|CCDS10044|CCDS10045" O14770 9383298 MGI:108564 RGD:1305198 601740 8463 406645 HGNC:7001 "ENST00000561208.6|NM_170675.5" HGNC:7001 +HGNC:29537 MEIS3 Meis homeobox 3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "MRG2|DKFZp547H236" Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse) TALE class homeoboxes and pseudogenes 526 2004-02-10 2007-02-15 2018-11-16 56917 ENSG00000105419 OTTHUMG00000172280 uc002pgt.5 BC025404 NM_020160 "CCDS46132|CCDS33064|CCDS74406" Q99687 8950991 MGI:108519 RGD:1308532 619443 8380 HGNC:29537 "ENST00000558555.6|NM_001301059.2" +HGNC:7002 MEIS3P1 Meis homeobox 3 pseudogene 1 pseudogene pseudogene Approved 17p12 17p12 MRG2 "MEIS3|MEIS4" "Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)|Meis1, myeloid ecotropic viral integration site 1 homolog 4 (mouse)|Meis1 homolog 3 (mouse) pseudogene 1" TALE class homeoboxes and pseudogenes 526 1998-02-09 2005-12-23 2007-02-15 2011-06-20 4213 ENSG00000179277 OTTHUMG00000059145 U68385 NR_002211 A6NDR6 9049632 8411 HGNC:7002 +HGNC:17638 MEIS3P2 Meis homeobox 3 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 Meis1 homolog 3 (mouse) pseudogene 2 TALE class homeoboxes and pseudogenes 526 2005-12-23 2007-02-15 2017-10-30 257468 ENSG00000188013 OTTHUMG00000059559 NG_002418 A8K0S8 8381 PGOHUM00000294324 HGNC:17638 +HGNC:16870 MELK maternal embryonic leucine zipper kinase protein-coding gene gene with protein product Approved 9p13.2 09p13.2 KIAA0175 2003-02-04 2016-10-05 9833 ENSG00000165304 OTTHUMG00000019906 uc003zzn.5 D79997 NM_014791 "CCDS59128|CCDS59123|CCDS59124|CCDS59127|CCDS59126|CCDS59125|CCDS6606" Q14680 "8724849|9136115" MGI:106924 RGD:1308974 607025 objectId:2102 HGNC:16870 "ENST00000298048.7|NM_014791.4" +HGNC:7037 MELTF melanotransferrin protein-coding gene gene with protein product Approved 3q29 03q29 "CD228|FLJ38863|MAP97|MGC4856|MTF1|MTf" "melanotransferrin|membrane-bound transferrin-like protein" MFI2 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 "CD molecules|Transferrins" "471|908" 2001-06-22 2016-02-04 2016-02-04 2016-10-05 4241 ENSG00000163975 OTTHUMG00000155518 uc003fxk.5 NM_005929 "CCDS3325|CCDS3326" P08582 MGI:1353421 RGD:1308155 155750 CD228 HGNC:7037 "ENST00000296350.10|NM_005929.6" +HGNC:40373 MELTF-AS1 MELTF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 "AC068302.3|PLANE" Pan-cancer LncRNA Activating NCOR2 responsive to E2F1 MFI2-AS1 MFI2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2016-10-03 2016-10-03 2022-03-23 100507057 ENSG00000228109 OTTHUMG00000155519 uc062sdg.1 NR_038285 "27513470|34145290" HGNC:40373 +HGNC:14014 MEMO1 mediator of cell motility 1 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "CGI-27|MEMO" C2orf4 chromosome 2 open reading frame 4 2000-11-28 2007-02-12 2007-02-12 2016-10-05 51072 ENSG00000162959 OTTHUMG00000128453 uc002rnx.4 AF132961 NM_015955 "CCDS1776|CCDS46255" Q9Y316 15156151 MGI:1924140 RGD:1309929 611786 HGNC:14014 "ENST00000404530.6|NM_001301833.4" +HGNC:23274 MEMO1P1 mediator of cell motility 1 pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 "MEMO1P|C21orf19" "mediator of cell motility 1 pseudogene|chromosome 21 open reading frame 19" 2007-02-12 2010-02-25 2010-02-25 2020-04-20 728556 ENSG00000226054 OTTHUMG00000086608 DQ120661 NG_005842 HGNC:23274 +HGNC:38502 MEMO1P2 mediator of cell motility 1 pseudogene 2 pseudogene pseudogene Approved 6q23.3 06q23.3 2010-05-24 2020-04-03 645175 ENSG00000213117 XR_017268 PGOHUM00000243785 HGNC:38502 +HGNC:38503 MEMO1P3 mediator of cell motility 1 pseudogene 3 pseudogene pseudogene Approved 3q26.1 03q26.1 2010-05-24 2016-10-05 100462782 ENSG00000239238 OTTHUMG00000158501 NG_022281 PGOHUM00000238258 HGNC:38503 +HGNC:38504 MEMO1P4 mediator of cell motility 1 pseudogene 4 pseudogene pseudogene Approved Xq25 Xq25 2010-05-24 2014-11-19 100462785 ENSG00000230376 OTTHUMG00000022332 NG_022698 PGOHUM00000241992 HGNC:38504 +HGNC:49102 MEMO1P5 mediator of cell motility 1 pseudogene 5 pseudogene pseudogene Approved 13q32.1 13q32.1 2013-09-02 2013-09-02 106481668 ENSG00000271492 OTTHUMG00000184874 NG_042937 PGOHUM00000248664 HGNC:49102 +HGNC:7010 MEN1 menin 1 protein-coding gene gene with protein product Approved 11q13 11q13 menin multiple endocrine neoplasia I 2001-06-22 2015-11-27 2021-05-26 4221 ENSG00000133895 OTTHUMG00000045366 uc001obq.4 U93236 NM_000244 "CCDS8083|CCDS31600" O00255 MGI:1316736 RGD:3078 "UMD Locus Specific Databases|http://www.umd.be/|LRG_509|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_509.xml" MEN1 613733 123196 HGNC:7010 "ENST00000450708.7|NM_001370259.2" HGNC:7010 +HGNC:7013 MEOX1 mesenchyme homeobox 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MOX1 mesenchyme homeo box 1 HOXL subclass homeoboxes 518 1994-12-14 2005-12-22 2021-05-26 4222 ENSG00000005102 OTTHUMG00000170513 uc002idz.4 NM_001040002 "CCDS42343|CCDS11466|CCDS11467" P50221 7987315 MGI:103220 RGD:1308911 LRG_708|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_708.xml 600147 8464 322841 HGNC:7013 "ENST00000318579.9|NM_004527.4" HGNC:7013 +HGNC:7014 MEOX2 mesenchyme homeobox 2 protein-coding gene gene with protein product Approved 7p21.2 07p21.2 MOX2 growth arrest-specific homeobox GAX "mesenchyme homeo box 2 (growth arrest-specific homeo box)|mesenchyme homeobox 2 (growth arrest-specific homeo box)" HOXL subclass homeoboxes 518 1994-12-14 2005-12-22 2021-04-13 4223 ENSG00000106511 OTTHUMG00000152390 uc003stc.4 NM_005924 CCDS34605 P50222 7713505 MGI:103219 RGD:3079 LRG_704|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_704.xml 600535 8465 HGNC:7014 "ENST00000262041.6|NM_005924.5" +HGNC:7015 MEP1A meprin A subunit alpha protein-coding gene gene with protein product Approved 6p12.3 06p12.3 PPHA PABA peptide hydrolase meprin A, alpha (PABA peptide hydrolase) Astacins 894 1994-07-19 2015-11-23 2016-10-05 4224 ENSG00000112818 OTTHUMG00000014790 uc010jzh.2 NM_005588 CCDS4918 Q16819 7774936 MGI:96963 RGD:3080 600388 M12.002 3.4.24.18 HGNC:7015 "ENST00000230588.9|NM_005588.3" +HGNC:7016 MEP1AP1 meprin A subunit alpha pseudogene 1 pseudogene pseudogene Approved 9p11.2 09p11.2 MEP1AL1 "meprin A, alpha-like 1|meprin A, alpha-like 1 (pseudogene)|meprin A, alpha pseudogene 1" 1999-07-27 2010-10-20 2015-11-23 2020-04-20 642840 ENSG00000283246 OTTHUMG00000191826 NG_006472 10405340 PGOHUM00000303811 HGNC:7016 +HGNC:7017 MEP1AP2 meprin A subunit alpha pseudogene 2 pseudogene pseudogene Approved 9q21.11 not on reference assembly 09q21.11 not on reference assembly MEP1AL2 "meprin A, alpha-like 2|meprin A, alpha-like 2 (pseudogene)|meprin A, alpha pseudogene 2" 1999-07-27 2010-10-20 2015-11-23 2020-04-20 644777 NG_006473 10405340 +HGNC:39137 MEP1AP3 meprin A subunit alpha pseudogene 3 pseudogene pseudogene Approved 9q21.11 09q21.11 meprin A, alpha pseudogene 3 2010-10-20 2015-11-23 2016-11-11 389747 NG_006474 PGOHUM00000304297 HGNC:39137 +HGNC:39138 MEP1AP4 meprin A subunit alpha pseudogene 4 pseudogene pseudogene Approved 9p11.1 09p11.1 meprin A, alpha pseudogene 4 2010-10-20 2015-11-23 2016-10-05 643157 ENSG00000224537 OTTHUMG00000013568 NG_006471 PGOHUM00000236527 HGNC:39138 +HGNC:7020 MEP1B meprin A subunit beta protein-coding gene gene with protein product Approved 18q12.1 18q12.1 meprin A, beta Astacins 894 1994-07-19 2015-11-23 2019-08-20 4225 ENSG00000141434 OTTHUMG00000179708 uc002kxj.5 X81333 NM_005925 "CCDS77173|CCDS45846" Q16820 7774936 MGI:96964 RGD:3081 600389 M12.004 3.4.24.18 HGNC:7020 "ENST00000269202.11|NM_005925.3" +HGNC:20247 MEPCE methylphosphate capping enzyme protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ20257 BCDIN3 bin3, bicoid-interacting 3, homolog (Drosophila) "7SK snRNP complex|7BS DNA/RNA methyltransferases" "1676|2059" 2005-08-11 2007-07-26 2007-07-26 2020-05-04 56257 ENSG00000146834 OTTHUMG00000155255 uc003uuw.3 AF264752 NM_001194990 "CCDS55136|CCDS5693" Q7L2J0 "12358911|17643375" MGI:106477 RGD:1560550 611478 HGNC:20247 "ENST00000310512.4|NM_019606.6" +HGNC:13361 MEPE matrix extracellular phosphoglycoprotein protein-coding gene gene with protein product Approved 4q22.1 04q22.1 matrix, extracellular phosphoglycoprotein with ASARM motif (bone) SIBLING family 1279 2000-09-19 2008-08-29 2016-10-05 56955 ENSG00000152595 OTTHUMG00000130592 uc021xpu.2 AJ276396 NM_001184694 "CCDS77940|CCDS54776|CCDS3625" Q9NQ76 10945470 MGI:2137384 RGD:71036 605912 HGNC:13361 "ENST00000361056.4|NM_020203.6" +HGNC:7027 MERTK MER proto-oncogene, tyrosine kinase protein-coding gene gene with protein product Approved 2q13 02q13 "mer|RP38|c-Eyk|Tyro12" c-mer proto-oncogene tyrosine kinase "Receptor tyrosine kinases|Fibronectin type III domain containing|I-set domain containing" "321|555|593" 1998-11-30 2014-06-26 2016-10-05 10461 ENSG00000153208 OTTHUMG00000131278 uc002thk.2 U08023 NM_006343 CCDS2094 Q12866 "8086340|10343112" MGI:96965 RGD:69283 Mutations of the MER Receptor Tyrosine Kinase Gene|http://www.retina-international.org/files/sci-news/mertkmut.htm 604705 123198 objectId:1837 HGNC:7027 "ENST00000295408.9|NM_006343.3" HGNC:7027 +HGNC:13520 MESD mesoderm development LRP chaperone protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "KIAA0081|BOCA" MESDC2 mesoderm development candidate 2 2000-09-25 2017-05-16 2017-05-16 2019-09-04 23184 ENSG00000117899 OTTHUMG00000172288 uc059mkq.1 D42039 NM_015154 CCDS32308 Q14696 "7788527|11247670|15014448|12581525|24124512" MGI:1891421 RGD:1310344 607783 HGNC:13520 "ENST00000261758.6|NM_015154.3" HGNC:13520 +HGNC:29658 MESP1 mesoderm posterior bHLH transcription factor 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "MGC10676|bHLHc5" "mesoderm posterior 1 homolog (mouse)|mesoderm posterior basic helix-loop-helix transcription factor 1" Basic helix-loop-helix proteins 420 2005-10-21 2015-06-16 2015-06-16 55897 ENSG00000166823 OTTHUMG00000149810 uc002bol.4 NM_018670 CCDS10355 Q9BRJ9 "8787751|11578861" MGI:107785 RGD:1311751 608689 470654 HGNC:29658 "ENST00000300057.5|NM_018670.4" +HGNC:29659 MESP2 mesoderm posterior bHLH transcription factor 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SCDO2|bHLHc6" "mesoderm posterior 2 homolog (mouse)|mesoderm posterior basic helix-loop-helix transcription factor 2" Basic helix-loop-helix proteins 420 2005-10-21 2015-06-16 2021-05-26 145873 ENSG00000188095 OTTHUMG00000172016 uc002bon.4 NM_001039958 CCDS42078 Q0VG99 11578861 MGI:1096325 RGD:1305959 LRG_1304|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1304.xml 605195 139173 HGNC:29659 "ENST00000341735.5|NM_001039958.2" HGNC:29659 +HGNC:7028 MEST mesoderm specific transcript protein-coding gene gene with protein product Approved 7q32.2 07q32.2 PEG1 Paternally-expressed gene 1 "mesoderm specific transcript (mouse) homolog|mesoderm specific transcript homolog (mouse)" MicroRNA protein coding host genes 1691 1996-04-17 2012-12-07 2021-04-13 4232 ENSG00000106484 OTTHUMG00000156661 uc003vqc.4 NM_002402 "CCDS5823|CCDS5822|CCDS59081" Q5EB52 "8884280|28501506|26119994" MGI:96968 RGD:1594589 LRG_1033|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1033.xml 601029 S33.972 HGNC:7028 "ENST00000223215.10|NM_002402.4" +HGNC:17991 MESTIT1 MEST intronic transcript 1, antisense RNA non-coding RNA RNA, long non-coding Approved 7q32.2 07q32.2 "NCRNA00040|MEST-AS1" "non-protein coding RNA 40|MEST antisense RNA 1 (non-protein coding)" MEST-IT1 MEST intronic transcript 1, antisense RNA (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2003-01-21 2011-07-07 2012-08-15 2021-04-13 317751 ENSG00000272701 OTTHUMG00000186331 uc003vqe.4 AF482998 NR_004382 12095916 LRG_1056|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1056.xml 607794 MESTIT1 HGNC:17991 +HGNC:29660 MESTP1 mesoderm specific transcript pseudogene 1 pseudogene pseudogene Approved 6q22.33 06q22.33 mesoderm specific transcript homolog (mouse) pseudogene 1 2005-10-21 2012-12-07 2016-10-05 338470 ENSG00000220884 OTTHUMG00000015543 AL445439 NG_002694 PGOHUM00000243359 HGNC:29660 +HGNC:18208 MESTP2 mesoderm specific transcript pseudogene 2 pseudogene pseudogene Approved 15q22.2 15q22.2 mesoderm specific transcript homolog (mouse) pseudogene 2 2010-06-17 2012-12-07 2014-11-19 100421572 ENSG00000259558 OTTHUMG00000172012 NG_025325 PGOHUM00000246809 HGNC:18208 +HGNC:38553 MESTP3 mesoderm specific transcript pseudogene 3 pseudogene pseudogene Approved 4p15.1 04p15.1 mesoderm specific transcript homolog (mouse) pseudogene 3 2010-06-17 2012-12-07 2014-11-18 645641 ENSG00000250927 OTTHUMG00000160398 NG_022008 PGOHUM00000245487 HGNC:38553 +HGNC:38554 MESTP4 mesoderm specific transcript pseudogene 4 pseudogene pseudogene Approved 3p24.1 03p24.1 mesoderm specific transcript homolog (mouse) pseudogene 4 2010-06-17 2012-12-07 2014-11-18 131572 ENSG00000215004 OTTHUMG00000155719 NG_028940 PGOHUM00000237974 HGNC:38554 +HGNC:7029 MET MET proto-oncogene, receptor tyrosine kinase protein-coding gene gene with protein product Approved 7q31 07q31 "HGFR|RCCP2|DFNB97" hepatocyte growth factor receptor met proto-oncogene "Receptor tyrosine kinases|IPT domain containing" "321|1752" 1986-01-01 2014-06-26 2021-04-13 4233 ENSG00000105976 OTTHUMG00000023299 uc003vij.4 M35073 NM_000245 "CCDS43636|CCDS47689" P08581 "1846706|1611909|25941349" MGI:96969 RGD:3082 LRG_662|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_662.xml MET 164860 123201 objectId:1815 2.7.10.1 HGNC:7029 "ENST00000397752.8|NM_000245.4" HGNC:7029 +HGNC:15789 METAP1 methionyl aminopeptidase 1 protein-coding gene gene with protein product Approved 4q23 04q23 "KIAA0094|MetAP1A|MAP1A" Peptidase M "Aminopeptidases|M24 metallopeptidase family|MicroRNA protein coding host genes" "104|1442|1691" 2001-09-26 2014-11-19 23173 ENSG00000164024 OTTHUMG00000161231 uc003huf.5 D42084 NM_015143 CCDS47110 P53582 "7788527|12144506" MGI:1922874 RGD:1305545 610151 M24.017 objectId:1572 3.4.11.18 HGNC:15789 "ENST00000296411.11|NM_015143.3" +HGNC:32583 METAP1D methionyl aminopeptidase type 1D, mitochondrial protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "MAP1D|Metap1l" methionine aminopeptidase 1D Aminopeptidases 104 2010-09-21 2016-08-11 2016-08-11 254042 ENSG00000172878 OTTHUMG00000132283 uc002uhk.4 "AY374142|BC029123" NM_199227 CCDS2246 Q6UB28 "14532271|16568094" MGI:1913809 RGD:1307413 610267 objectId:1574 HGNC:32583 "ENST00000315796.5|NM_199227.3" +HGNC:16672 METAP2 methionyl aminopeptidase 2 protein-coding gene gene with protein product Approved 12q22 12q22 "MNPEP|p67|MAP2" Peptidase M "Aminopeptidases|M24 metallopeptidase family" "104|1442" 2001-09-26 2014-11-19 10988 ENSG00000111142 OTTHUMG00000170280 uc001tec.4 U13261 NM_006838 "CCDS9052|CCDS81725|CCDS81723|CCDS81724" P50579 "7644482|8858118" MGI:1929701 RGD:70995 601870 M24.002 objectId:1573 3.4.11.18 HGNC:16672 "ENST00000323666.10|NM_006838.4" +HGNC:54558 METAP2P1 METAP2 pseudogene 1 pseudogene pseudogene Approved 2q22.3 02q22.3 2019-10-16 2019-10-16 727713 ENSG00000234119 NG_005626 +HGNC:14151 METRN meteorin, glial cell differentiation regulator protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC2601 C16orf23 chromosome 16 open reading frame 23 2000-12-21 2004-12-01 2004-11-26 2019-12-06 79006 ENSG00000103260 OTTHUMG00000047851 uc010bra.4 BC000662 NM_024042 CCDS10422 Q9UJH8 15085178 MGI:1917333 RGD:1306222 610998 HGNC:14151 "ENST00000568223.7|NM_024042.4" +HGNC:27584 METRNL meteorin like, glial cell differentiation regulator protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "subfatin|cometin" 2004-12-01 2016-06-13 2020-04-01 284207 ENSG00000176845 OTTHUMG00000177771 uc002kgh.4 AK093748 NM_001004431 "CCDS86656|CCDS32779" Q641Q3 MGI:2384806 RGD:1359271 616241 HGNC:27584 "ENST00000320095.12|NM_001004431.3" +HGNC:7030 METTL1 methyltransferase 1, tRNA methylguanosine protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "TRM8|TRMT8" C12orf1 methyltransferase like 1 7BS DNA/RNA methyltransferases 2059 1998-06-10 2021-05-17 2021-09-10 4234 ENSG00000037897 OTTHUMG00000150143 uc010ssd.3 "BC000550|BQ651940|Y18643" NM_005371 "CCDS8956|CCDS8955" Q9UBP6 "10329009|15861136" MGI:1339986 RGD:1593036 604466 2.1.1.33 HGNC:7030 "ENST00000324871.12|NM_005371.6" +HGNC:54907 METTL1P1 METTL1 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-22 2020-04-22 441487 ENSG00000176812 NG_007382 +HGNC:25755 METTL2A methyltransferase 2A, methylcytidine protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "FLJ12760|METTL2" methyltransferase like 2A 7BS DNA/RNA methyltransferases 2059 2006-02-09 2006-02-10 2021-05-17 2021-09-10 339175 ENSG00000087995 OTTHUMG00000164527 uc002izv.3 AK000991 NM_181725 CCDS45752 Q96IZ6 12477932 MGI:1289171 RGD:1310240 618902 HGNC:25755 "ENST00000311506.10|NM_181725.4" +HGNC:18272 METTL2B methyltransferase 2B, methylcytidine protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "METL|FLJ11350" METTL2 "methyltransferase like 2|methyltransferase like 2B" 7BS DNA/RNA methyltransferases 2059 2003-01-29 2006-02-09 2021-05-17 2021-09-10 55798 ENSG00000165055 OTTHUMG00000143738 uc003vnf.3 AK002212 NM_018396 CCDS5803 Q6P1Q9 11738826 MGI:1289171 607846 HGNC:18272 "ENST00000262432.13|NM_018396.3" +HGNC:17563 METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "Spo8|M6A|MT-A70" "N6-adenosine-methyltransferase 70 kDa subunit|mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase" methyltransferase like 3 "m6A methyltransferase complex|7BS N6-adenosine DNA/RNA methyltransferases" "1419|2061" 2003-01-14 2021-05-17 2021-09-03 56339 ENSG00000165819 OTTHUMG00000168825 uc001wbc.4 AF014837 NM_019852 CCDS32044 Q86U44 24316715 MGI:1927165 RGD:1311750 612472 objectId:3181 2.1.1.62 HGNC:17563 "ENST00000298717.9|NM_019852.5" +HGNC:24726 METTL4 methyltransferase 4, N6-adenosine protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "FLJ23017|HsT661" methyltransferase like 4 7BS N6-adenosine DNA/RNA methyltransferases 2061 2004-01-08 2021-05-17 2021-09-10 64863 ENSG00000101574 OTTHUMG00000131482 uc002klh.5 NM_022840 "CCDS11826|CCDS77144" Q8N3J2 "30982744|31913360" MGI:1924031 RGD:1306451 619626 HGNC:24726 "ENST00000574538.2|NM_022840.5" +HGNC:25006 METTL5 methyltransferase 5, N6-adenosine protein-coding gene gene with protein product Approved 2q31.1 02q31.1 HSPC133 methyltransferase like 5 7BS N6-adenosine DNA/RNA methyltransferases 2061 2005-04-14 2021-05-17 2021-09-10 29081 ENSG00000138382 OTTHUMG00000154117 uc002ufp.4 AF201938 NM_014168 CCDS33320 Q9NRN9 11042152 MGI:1922672 RGD:1566062 618628 HGNC:25006 "ENST00000260953.10|NM_014168.4" HGNC:25006 +HGNC:28343 METTL6 methyltransferase 6, methylcytidine protein-coding gene gene with protein product Approved 3p25.1 03p25.1 MGC24132 methyltransferase like 6 7BS DNA/RNA methyltransferases 2059 2005-11-02 2021-05-17 2021-09-10 131965 ENSG00000206562 OTTHUMG00000156431 uc062hcc.1 AK057791 NM_152396 "CCDS87051|CCDS43056|CCDS77706" Q8TCB7 26888608 MGI:1914261 RGD:1359565 618903 HGNC:28343 "ENST00000383790.8|NM_152396.4" +HGNC:24550 METTL7A methyltransferase like 7A protein-coding gene gene with protein product Approved 12q13.12 12q13.12 DKFZP586A0522 7BS small molecule methyltransferases 2063 2006-02-09 2021-09-10 25840 ENSG00000185432 OTTHUMG00000169484 uc058nys.1 NM_014033 CCDS8804 Q9H8H3 12975309 "MGI:1916523|MGI:3026615|MGI:3710670" RGD:1308407 618338 2.1.1.- HGNC:24550 "ENST00000332160.5|NM_014033.4" +HGNC:48874 METTL7AP1 methyltransferase like 7A pseudogene 1 pseudogene pseudogene Approved 12q13.13 12q13.13 2013-06-20 2013-06-20 100996686 ENSG00000257649 OTTHUMG00000169628 PGOHUM00000261131 HGNC:48874 +HGNC:28276 METTL7B methyltransferase like 7B protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "MGC17301|ALDI" associated with lipid droplets 1 7BS small molecule methyltransferases 2063 2006-02-09 2021-09-10 196410 ENSG00000170439 OTTHUMG00000152665 uc010spr.3 NM_152637 CCDS8887 Q6UX53 17004324 MGI:1918914 RGD:1305205 HGNC:28276 "ENST00000394252.4|NM_152637.3" +HGNC:25856 METTL8 methyltransferase 8, methylcytidine protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "FLJ13984|TIP" tension-induced/inhibited protein methyltransferase like 8 7BS DNA/RNA methyltransferases 2059 2006-05-10 2021-05-17 2021-09-10 79828 ENSG00000123600 OTTHUMG00000132261 uc032ojq.2 AK024046 NM_024770 "CCDS2242|CCDS82532|CCDS82531" Q9H825 "15992539|28655767" MGI:2385142 RGD:1561059 609525 HGNC:25856 "ENST00000375258.9|NM_001321154.2" +HGNC:49856 METTL8P1 methyltransferase like 8 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 2014-03-18 2014-03-18 728996 ENSG00000256283 OTTHUMG00000168748 NG_007062 PGOHUM00000239359 HGNC:49856 +HGNC:24586 METTL9 methyltransferase like 9 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 DREV1 DORA reverse strand protein 1 7BS protein methyltransferases 2058 2006-07-11 2021-09-10 51108 ENSG00000197006 OTTHUMG00000131584 uc002dje.4 AF151839 NM_016025 "CCDS45440|CCDS10598" Q9H1A3 "10810093|11132146|33563959" MGI:1914862 RGD:2311609 609388 HGNC:24586 "ENST00000358154.8|NM_016025.5" +HGNC:24248 METTL13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "CGI-01|FEAT" faint expression in normal tissues, aberrant overexpression in tumors "KIAA0859|METTL13|DFNM1|EEF1AKNMT" "KIAA0859|methyltransferase like 13|deafness (recessive, non-syndromic) modifier 1|eEF1A lysine and N-terminal methyltransferase" 7BS protein lysine methyltransferases 2056 2004-11-10 2021-05-17 2021-05-17 2021-09-03 51603 ENSG00000010165 OTTHUMG00000034912 uc001ghz.4 AF132936 NM_014955 "CCDS30936|CCDS1299|CCDS1300" Q8N6R0 "10810093|10048485|29408807|30143613" MGI:1918699 RGD:1311526 617987 HGNC:24248 "ENST00000361735.4|NM_015935.5" +HGNC:29330 METTL14 methyltransferase 14, N6-adenosine-methyltransferase subunit protein-coding gene gene with protein product Approved 4q26 04q26 KIAA1627 methyltransferase like 14 "m6A methyltransferase complex|7BS N6-adenosine DNA/RNA methyltransferases" "1419|2061" 2009-02-24 2021-05-17 2021-09-03 57721 ENSG00000145388 OTTHUMG00000161167 uc003icf.4 AB046847 NM_020961 CCDS34053 Q9HCE5 "10997877|24316715" MGI:2442926 RGD:1304822 616504 2.1.1.62 HGNC:29330 "ENST00000388822.10|NM_020961.4" +HGNC:53367 METTL14-DT METTL14 divergent transcript non-coding RNA RNA, long non-coding Approved 4q26 04q26 Divergent transcripts 1990 2018-09-28 2018-09-28 101929741 ENSG00000281731 OTTHUMG00000189712 NR_125930 HGNC:53367 +HGNC:26606 METTL15 methyltransferase like 15 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 FLJ33979 METT5D1 methyltransferase 5 domain containing 1 7BS DNA/RNA methyltransferases 2059 2005-03-01 2011-03-02 2011-03-02 2021-09-10 196074 ENSG00000169519 OTTHUMG00000150448 uc001msh.3 AL832668 NM_152636 "CCDS73269|CCDS31450|CCDS44559" A6NJ78 12477932 MGI:1924144 RGD:1304978 618711 HGNC:26606 "ENST00000407364.8|NM_001113528.2" +HGNC:31926 METTL15P1 methyltransferase like 15 pseudogene 1 pseudogene pseudogene Approved 3q25.31 03q25.31 METT5D2 methyltransferase 5 domain containing 2 2005-03-01 2011-03-02 2011-03-02 2020-04-20 100130758 ENSG00000174912 OTTHUMG00000158645 NG_011761 P0C7V9 MGI:1924144 PGOHUM00000250267 HGNC:31926 +HGNC:39559 METTL15P2 methyltransferase like 15 pseudogene 2 pseudogene pseudogene Approved 12q14.1 12q14.1 2011-03-02 2011-03-02 644915 NG_021691 PGOHUM00000239484 HGNC:39559 +HGNC:39558 METTL15P3 methyltransferase like 15 pseudogene 3 pseudogene pseudogene Approved Xp22.11 Xp22.11 2011-03-02 2011-03-02 729650 ENSG00000224396 OTTHUMG00000021243 NG_022648 PGOHUM00000241663 HGNC:39558 +HGNC:28484 METTL16 methyltransferase 16, N6-methyladenosine protein-coding gene gene with protein product Approved 17p13.3 17p13.3 MGC3329 U6 snRNA methyltransferase METT10D "methyltransferase 10 domain containing|methyltransferase like 16" 7BS N6-adenosine DNA/RNA methyltransferases 2061 2005-12-19 2011-03-02 2021-05-17 2021-09-03 79066 ENSG00000127804 OTTHUMG00000177564 uc002fut.4 AK027410 NM_024086 CCDS42232 Q86W50 "18021804|28525753|29051200" MGI:1914743 RGD:1593242 HGNC:28484 "ENST00000263092.11|NM_024086.4" +HGNC:19280 METTL17 methyltransferase like 17 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ20859 METT11D1 methyltransferase 11 domain containing 1 7BS orphan methyltransferases 2066 2006-05-19 2011-03-02 2011-03-02 2021-09-10 64745 ENSG00000165792 OTTHUMG00000029610 uc001vyn.4 AK024512 NM_022734 "CCDS41913|CCDS9562" Q9H7H0 "11278769|26488768" MGI:1098577 RGD:1559895 616091 HGNC:19280 "ENST00000339374.11|NM_022734.3" +HGNC:28793 METTL18 methyltransferase like 18 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "MGC9084|AsTP2|HPM1" histidine protein methyltransferase 1 C1orf156 chromosome 1 open reading frame 156 7BS protein methyltransferases 2058 2005-07-14 2011-03-02 2011-03-02 2021-09-10 92342 ENSG00000171806 OTTHUMG00000035813 uc001ggn.6 AL035369 NM_033418 CCDS1284 O95568 "20864530|33693809" MGI:1917212 RGD:1306783 615255 HGNC:28793 "ENST00000310392.5|NM_033418.4" +HGNC:30476 METTL21A methyltransferase 21A, HSPA lysine protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "LOC151194|HCA557b|HSPA-KMT" "Hepatocellular carcinoma-associated antigen 557b|heat shock protein 70kDa lysine (K) methyltransferase" FAM119A "family with sequence similarity 119, member A|methyltransferase like 21A" 7BS protein lysine methyltransferases 2056 2006-05-15 2011-03-03 2021-05-21 2021-09-03 151194 ENSG00000144401 OTTHUMG00000132934 uc010fuk.1 "AK093812|AF455817" NM_145280 "CCDS82563|CCDS77514|CCDS2376|CCDS82562" Q8WXB1 23921388 MGI:1914349 RGD:7651604 615257 HGNC:30476 +HGNC:41921 METTL21AP1 methyltransferase like 21A pseudogene 1 pseudogene pseudogene Approved 21q22.2 21q22.2 2011-05-18 2011-05-18 100421629 ENSG00000229623 OTTHUMG00000066177 NG_025044 PGOHUM00000239085 HGNC:41921 +HGNC:33717 METTL21C methyltransferase 21C, AARS1 lysine protein-coding gene gene with protein product Approved 13q33.1 13q33.1 LOC196541 C13orf39 "chromosome 13 open reading frame 39|methyltransferase like 21C" 7BS protein lysine methyltransferases 2056 2008-07-11 2011-03-03 2021-05-17 2021-09-03 196541 ENSG00000139780 OTTHUMG00000017304 uc001vpj.5 NM_001010977 CCDS32003 Q5VZV1 32611769 MGI:3611450 RGD:1561425 615259 HGNC:33717 "ENST00000267273.7|NM_001010977.3" +HGNC:41948 METTL21EP methyltransferase like 21E, pseudogene pseudogene pseudogene Approved 13q33.1 13q33.1 METTL21CP1 methyltransferase like 21C pseudogene 1 2011-08-15 2012-11-09 2012-11-09 2012-11-09 121952 ENSG00000250878 OTTHUMG00000017312 NR_026965 A6NDL7 MGI:2685837 RGD:2320407 PGOHUM00000248678 HGNC:41948 +HGNC:28368 METTL22 methyltransferase 22, Kin17 lysine protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "FLJ12433|MGC2654" C16orf68 "chromosome 16 open reading frame 68|methyltransferase like 22" 7BS protein lysine methyltransferases 2056 2006-04-06 2011-03-03 2021-05-21 2021-09-03 79091 ENSG00000067365 OTTHUMG00000129694 uc002czb.4 AK022495 NM_024109 CCDS10533 Q9BUU2 24140279 MGI:2384301 RGD:1311433 615261 HGNC:28368 "ENST00000381920.8|NM_024109.4" +HGNC:26988 METTL23 methyltransferase like 23 protein-coding gene gene with protein product Approved 17q25.2 17q25.2 LOC124512 C17orf95 chromosome 17 open reading frame 95 2008-07-11 2011-03-03 2011-03-03 2021-09-03 124512 ENSG00000181038 OTTHUMG00000180371 uc002jsr.4 NM_001080510 "CCDS45787|CCDS59298" Q86XA0 24501276 MGI:1921569 RGD:1306284 615262 405470 HGNC:26988 "ENST00000341249.11|NM_001080510.5" HGNC:26988 +HGNC:21566 METTL24 methyltransferase like 24 protein-coding gene gene with protein product Approved 6q21 06q21 dJ71D21.2 C6orf186 chromosome 6 open reading frame 186 2003-11-26 2012-02-21 2012-02-21 2021-09-10 728464 ENSG00000053328 OTTHUMG00000015359 uc010kdu.2 NM_001123364 CCDS43489 Q5JXM2 MGI:3045338 RGD:1564857 HGNC:21566 "ENST00000338882.5|NM_001123364.3" +HGNC:26228 METTL25 methyltransferase like 25 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 FLJ22789 C12orf26 chromosome 12 open reading frame 26 7BS orphan methyltransferases 2066 2006-01-06 2012-08-13 2012-08-13 2021-09-10 84190 ENSG00000127720 OTTHUMG00000170252 uc001szq.4 BC029120 NM_032230 CCDS9024 Q8N6Q8 MGI:3041259 RGD:1310270 HGNC:26228 "ENST00000248306.8|NM_032230.3" +HGNC:24273 METTL25B methyltransferase like 25B protein-coding gene gene with protein product Approved 1q23.1 01q23.1 CGI-41 "C1orf66|RRNAD1" "chromosome 1 open reading frame 66|ribosomal RNA adenine dimethylase domain containing 1" 7BS orphan methyltransferases 2066 2005-05-17 2021-03-08 2021-03-08 2021-09-10 51093 ENSG00000143303 OTTHUMG00000041302 uc001fpu.4 BC011382 NM_015997 "CCDS1154|CCDS44246" Q96FB5 "10810093|310876" MGI:2387197 RGD:1311265 HGNC:24273 "ENST00000368216.9|NM_015997.4" +HGNC:14141 METTL26 methyltransferase like 26 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC13114 C16orf13 chromosome 16 open reading frame 13 7BS orphan methyltransferases 2066 2000-12-21 2016-06-15 2016-06-15 2021-09-10 84326 ENSG00000130731 OTTHUMG00000047855 uc002chv.3 NM_001040160 "CCDS42091|CCDS45368|CCDS45367|CCDS73798|CCDS32352|CCDS42090" Q96S19 MGI:1915597 RGD:1307155 HGNC:14141 "ENST00000301686.13|NM_032366.5" +HGNC:19068 METTL27 methyltransferase like 27 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 WBSCR27 Williams Beuren syndrome chromosome region 27 7BS orphan methyltransferases 2066 2004-07-05 2017-03-20 2017-03-20 2021-09-10 155368 ENSG00000165171 OTTHUMG00000130033 uc003tzj.3 AF534110 NM_152559 CCDS5561 Q8N6F8 10329018 MGI:1933146 RGD:1588881 612546 HGNC:19068 "ENST00000297873.9|NM_152559.3" +HGNC:33482 MEX3A mex-3 RNA binding family member A protein-coding gene gene with protein product Approved 1q22 01q22 RNF162 RKHD4 "ring finger and KH domain containing 4|mex-3 homolog A (C. elegans)" Ring finger proteins 58 2007-06-12 2007-07-18 2013-08-21 2017-12-15 92312 ENSG00000254726 OTTHUMG00000017465 uc001fnd.4 AK024097 NM_001093725 CCDS53377 A1L020 17267406 MGI:1919890 RGD:1564904 611007 HGNC:33482 "ENST00000532414.3|NM_001093725.2" +HGNC:25297 MEX3B mex-3 RNA binding family member B protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "DKFZp434J0617|RNF195" RKHD3 "ring finger and KH domain containing 3|mex-3 homolog B (C. elegans)" Ring finger proteins 58 2004-05-24 2007-07-18 2013-08-21 2018-11-16 84206 ENSG00000183496 OTTHUMG00000147356 uc002bgq.3 AK131424 NM_032246 CCDS10319 Q6ZN04 "11230166|17267406" MGI:1918252 RGD:1306790 611008 HGNC:25297 "ENST00000329713.5|NM_032246.6" +HGNC:28040 MEX3C mex-3 RNA binding family member C protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "FLJ38871|RNF194" RKHD2 "ring finger and KH domain containing 2|mex-3 homolog C (C. elegans)" Ring finger proteins 58 2004-05-24 2007-07-18 2013-08-21 2016-10-05 51320 ENSG00000176624 OTTHUMG00000132693 uc002lfc.5 BC041122 NM_016626 CCDS11951 Q5U5Q3 17267406 MGI:2652843 RGD:1309023 611005 HGNC:28040 "ENST00000406189.4|NM_016626.5" +HGNC:16734 MEX3D mex-3 RNA binding family member D protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Tino|KIAA2031|OK/SW-cl.4|RNF193" bcl-2 ARE RNA binding protein RKHD1 "ring finger and KH domain containing 1|mex-3 homolog D (C. elegans)" Ring finger proteins 58 2004-03-17 2007-07-18 2013-08-21 2014-11-18 399664 ENSG00000181588 OTTHUMG00000150369 uc060rdi.1 AB107353 NM_203304 CCDS32865 Q86XN8 17267406 MGI:2681847 RGD:1310576 611009 HGNC:16734 "ENST00000402693.5|NM_203304.4" +HGNC:7032 MFAP1 microfibril associated protein 1 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 AMP microfibrillar associated protein 1 Spliceosomal B complex 1507 1994-06-17 2017-05-16 2017-05-16 4236 ENSG00000140259 OTTHUMG00000060145 uc001zth.2 NM_005926 CCDS10105 P55081 "7835894|28335716" "MGI:1914782|MGI:3694697" RGD:1562232 600215 HGNC:7032 "ENST00000267812.4|NM_005926.3" +HGNC:39694 MFAP1P1 microfibril associated protein 1 pseudogene 1 pseudogene pseudogene Approved 13q12.3 13q12.3 2011-03-23 2017-05-16 2017-05-16 646755 ENSG00000232489 OTTHUMG00000016673 NG_011532 PGOHUM00000248352 HGNC:39694 +HGNC:7033 MFAP2 microfibril associated protein 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "MAGP|MAGP-1" microfibril-associated glycoprotein-1 microfibrillar associated protein 2 1994-07-22 2017-05-16 2017-05-16 4237 ENSG00000117122 OTTHUMG00000002290 uc057csz.1 BC015039 NM_002403 "CCDS44071|CCDS174" P55001 7759096 MGI:99559 RGD:1306031 156790 HGNC:7033 "ENST00000375535.4|NM_002403.4" +HGNC:7034 MFAP3 microfibril associated protein 3 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 microfibrillar associated protein 3 I-set domain containing 593 1994-07-22 2017-05-16 2017-05-16 4238 ENSG00000037749 OTTHUMG00000130149 uc003lvf.3 NM_005927 "CCDS47319|CCDS4324" P55082 7782085 MGI:1924068 RGD:1359463 600491 HGNC:7034 "ENST00000522782.6|NM_005927.5" +HGNC:29083 MFAP3L microfibril associated protein 3 like protein-coding gene gene with protein product Approved 4q33 04q33 "KIAA0626|NYD-sp9" microfibrillar associated protein 3 like I-set domain containing 593 2004-06-25 2017-05-16 2017-05-16 9848 ENSG00000198948 OTTHUMG00000160942 uc003isp.5 AB014526 NM_021647 "CCDS34103|CCDS43281" O75121 9734811 MGI:1918556 RGD:1311274 616523 HGNC:29083 "ENST00000361618.4|NM_021647.8" +HGNC:7035 MFAP4 microfibril associated protein 4 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 microfibril-associated glycoprotein 4 microfibrillar associated protein 4 Fibrinogen C domain containing 554 1994-11-17 2017-05-16 2017-05-16 4239 ENSG00000166482 OTTHUMG00000059585 uc002gvt.4 L38486 NM_002404 "CCDS11208|CCDS56023" P55083 7633408 MGI:1342276 RGD:1307841 600596 HGNC:7035 "ENST00000299610.5|NM_002404.3" +HGNC:29673 MFAP5 microfibril associated protein 5 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "MAGP2|MP25" microfibril-associated glycoprotein-2 microfibrillar associated protein 5 2004-04-05 2017-05-16 2021-05-26 8076 ENSG00000197614 OTTHUMG00000168703 uc001qut.2 AK124368 NM_003480 "CCDS76524|CCDS76523|CCDS8595|CCDS76522|CCDS73437" Q13361 "9792630|8557636" MGI:1354387 RGD:1307919 601103 420468 HGNC:29673 "ENST00000359478.7|NM_003480.4" HGNC:29673 +HGNC:24858 MFF mitochondrial fission factor protein-coding gene gene with protein product Approved 2q36.3 02q36.3 GL004 C2orf33 chromosome 2 open reading frame 33 2004-06-28 2008-05-29 2008-05-29 2016-10-05 56947 ENSG00000168958 OTTHUMG00000133180 uc002vot.5 AF258660 NM_020194 "CCDS2465|CCDS63139|CCDS63140|CCDS63141|CCDS63142|CCDS74662" Q9GZY8 18353969 MGI:1922984 RGD:1310230 614785 470656 HGNC:24858 "ENST00000304593.14|NM_001277062.2" HGNC:24858 +HGNC:41067 MFF-DT MFF divergent transcript non-coding RNA RNA, long non-coding Approved 2q36.3 02q36.3 Divergent transcripts 1990 2019-08-16 2019-08-16 654841 ENSG00000236432 OTTHUMG00000149890 NR_102371 HGNC:41067 +HGNC:54537 MFFP1 MFF pseudogene 1 pseudogene pseudogene Approved 1p36.21 01p36.21 2019-10-11 2019-10-11 100420251 ENSG00000215720 NG_026912 HGNC:54537 +HGNC:54540 MFFP2 MFF pseudogene 2 pseudogene pseudogene Approved 5q32 05q32 2019-10-11 2019-10-11 644762 ENSG00000251583 NR_110534 HGNC:54540 +HGNC:54944 MFFP3 MFF pseudogene 3 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-04-30 2020-04-30 392452 ENSG00000204915 NR_102268 +HGNC:7036 MFGE8 milk fat globule EGF and factor V/VIII domain containing protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SED1|EDIL1|BA46|OAcGD3S|HsT19888|MFG-E8|hP47" "sperm surface protein hP47|lactadherin" SPAG10 "sperm associated antigen 10|milk fat globule-EGF factor 8 protein" 1996-10-31 2019-12-20 2019-12-20 4240 ENSG00000140545 OTTHUMG00000148682 uc002bng.5 U58516 NM_005928 "CCDS45345|CCDS10347|CCDS81918" Q08431 "9027496|19204935" MGI:102768 RGD:3083 602281 HGNC:7036 "ENST00000268150.13|NM_005928.4" +HGNC:16982 MFHAS1 multifunctional ROCO family signaling regulator 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "MASL1|LRRC65" "leucine rich repeat containing 65|malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1" malignant fibrous histiocytoma amplified sequence 1 ROCO family 1421 2001-12-03 2021-05-27 2021-05-27 9258 ENSG00000147324 OTTHUMG00000163676 uc003wsj.2 AB016816 NM_004225 CCDS34844 Q9Y4C4 "9973190|24286120" MGI:1098644 RGD:1308812 605352 HGNC:16982 "ENST00000276282.7|NM_004225.3" +HGNC:18262 MFN1 mitofusin 1 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 FLJ20693 2003-02-25 2016-10-05 55669 ENSG00000171109 OTTHUMG00000157385 uc003fjs.4 AF054986 NM_017927 CCDS3228 Q8IWA4 "8358434|11181170" MGI:1914664 RGD:621460 608506 470658 objectId:3130 HGNC:18262 "ENST00000471841.6|NM_033540.3" +HGNC:55050 MFN1P1 MFN1 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 441511 ENSG00000233874 NG_028800 +HGNC:16877 MFN2 mitofusin 2 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "CPRP1|KIAA0214|MARF|CMT2A2" 2003-02-25 2021-05-26 9927 ENSG00000116688 OTTHUMG00000002392 uc009vni.4 AF036536 NM_014874 CCDS30587 O95140 "12499352|11181170" MGI:2442230 RGD:628843 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_255|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_255.xml" 608507 123207 objectId:3131 HGNC:16877 "ENST00000235329.10|NM_014874.4" HGNC:16877 +HGNC:7038 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "manic fringe (Drosophila) homolog|manic fringe homolog (Drosophila)" Beta 3-glycosyltransferases 426 1997-11-07 2006-11-13 2014-11-19 4242 ENSG00000100060 OTTHUMG00000150560 uc003ass.3 BC094814 NM_002405 "CCDS54525|CCDS13947" O00587 "9878264|9187150" MGI:1095404 RGD:735126 602577 2.4.1.222 HGNC:7038 "ENST00000356998.8|NM_002405.4" +HGNC:18121 MFRP membrane frizzled-related protein protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "FLJ30570|rd6|NNO2|C1QTNF5" "membrane-type frizzled-related protein|C1q and TNF related 5" 2002-02-25 2017-03-01 83552 ENSG00000235718 OTTHUMG00000166199 uc001pwj.4 AB055505 NM_031433 CCDS8421 Q9BY79 11263980 MGI:2385957 RGD:1307477 606227 123212 HGNC:18121 "ENST00000619721.6|NM_031433.4" HGNC:18121 +HGNC:25874 MFSD1 major facilitator superfamily domain containing 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "FLJ14153|UG0581B09|Minerva" 2005-01-24 2020-06-04 64747 ENSG00000118855 OTTHUMG00000158835 uc003fcl.3 BC017661 NM_022736 "CCDS3185|CCDS54666" Q9H3U5 "30910009|31661432" MGI:1914118 RGD:1305751 HGNC:25874 "ENST00000415822.8|NM_022736.4" +HGNC:50625 MFSD1P1 major facilitator superfamily domain containing 1 pseudogene 1 pseudogene pseudogene Approved 17p13.2 17p13.2 2014-05-30 2014-05-30 100313532 ENSG00000261868 OTTHUMG00000177730 NG_015881 PGOHUM00000237202 HGNC:50625 +HGNC:25897 MFSD2A major facilitator superfamily domain containing 2A protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FLJ14490|SLC59A1" "sodium-dependent lysophosphatidylcholine symporter 1|sodium-dependent LPC symporter 1" MFSD2 major facilitator superfamily domain containing 2 Solute carriers 752 2005-07-18 2009-09-08 2009-09-08 2020-10-07 84879 ENSG00000168389 OTTHUMG00000009293 uc001ceu.5 AK093223 NM_032793 "CCDS44118|CCDS446|CCDS72762" Q8NA29 "18694395|24828040|24828044|26945070" MGI:1923824 RGD:1310174 614397 435518 objectId:3041 HGNC:25897 "ENST00000372811.10|NM_032793.5" HGNC:25897 +HGNC:37207 MFSD2B major facilitator superfamily domain containing 2B protein-coding gene gene with protein product Approved 2p23.3 02p23.3 SLC59A2 "S1P transporter|sphingosine 1-phosphate transporter" Solute carriers 752 2009-09-08 2020-10-07 388931 ENSG00000205639 OTTHUMG00000090819 uc032ngs.2 NM_001080473 CCDS86824 A6NFX1 "18694395|29563527" MGI:3583946 RGD:1561716 617845 objectId:3042 HGNC:37207 "ENST00000338315.6|NM_001346880.2" +HGNC:25157 MFSD3 major facilitator superfamily domain containing 3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 2005-08-16 2014-11-19 113655 ENSG00000167700 OTTHUMG00000165177 uc003zdi.2 NM_138431 CCDS6431 Q96ES6 MGI:1916822 RGD:1560274 HGNC:25157 "ENST00000301327.5|NM_138431.3" +HGNC:25433 MFSD4A major facilitator superfamily domain containing 4A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZp761N1114|FLJ34577|UNQ3064|FLJ25004|SLC60A1" MFSD4 major facilitator superfamily domain containing 4 Solute carriers 752 2005-11-17 2016-01-05 2016-01-05 2020-10-07 148808 ENSG00000174514 OTTHUMG00000037197 uc001hcv.5 BC036549 NM_181644 CCDS1455 Q8N468 MGI:2442786 RGD:1566090 objectId:3043 HGNC:25433 "ENST00000367147.9|NM_181644.5" +HGNC:27632 MFSD4A-AS1 MFSD4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2018-09-26 2018-09-26 284578 NR_027086 HGNC:27632 +HGNC:21053 MFSD4B major facilitator superfamily domain containing 4B protein-coding gene gene with protein product Approved 6q21 06q21 "MGC33953|SLC60A2" KIAA1919 KIAA1919 Solute carriers 752 2003-11-21 2016-01-05 2016-01-05 2020-10-07 91749 ENSG00000173214 OTTHUMG00000015372 uc003puv.5 BC036115 NM_153369 CCDS5090 Q5TF39 "MGI:1919295|MGI:2143575|MGI:2446139|MGI:3035041|MGI:3773841" RGD:1559971 617331 objectId:3044 HGNC:21053 "ENST00000671876.2|NM_153369.4" +HGNC:55773 MFSD4B-DT MFSD4B divergent transcript non-coding RNA RNA, long non-coding Approved 6q21 06q21 Divergent transcripts 1990 2021-07-22 2021-07-22 107986521 ENSG00000231046 XR_001743806 +HGNC:50626 MFSD4BP1 major facilitator superfamily domain containing 4B pseudogene 1 pseudogene pseudogene Approved 5q11.2 05q11.2 2016-01-05 2016-01-05 100128154 ENSG00000250827 OTTHUMG00000162166 NG_021848 PGOHUM00000235220 HGNC:50626 +HGNC:28156 MFSD5 major facilitator superfamily domain containing 5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MGC11308|HsMOT2|SLC61A1" Solute carriers 752 2006-01-06 2020-10-07 84975 ENSG00000182544 OTTHUMG00000170028 uc001sci.3 AK097576 NM_032889 "CCDS8851|CCDS53796" Q6N075 21464289 MGI:2145901 RGD:1305138 objectId:3045 HGNC:28156 "ENST00000329548.5|NM_032889.5" +HGNC:24711 MFSD6 major facilitator superfamily domain containing 6 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 FLJ20160 2008-10-29 2014-11-19 54842 ENSG00000151690 OTTHUMG00000132671 uc002urz.2 NM_001375986 CCDS2306 Q6ZSS7 MGI:1922925 RGD:1562317 613476 HGNC:24711 "ENST00000392328.6|NM_017694.4" +HGNC:26656 MFSD6L major facilitator superfamily domain containing 6 like protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ35773 major facilitator superfamily domain containing 6-like 2008-10-29 2016-03-30 2016-03-30 162387 ENSG00000185156 OTTHUMG00000178584 uc002glp.3 AK093092 NM_152599 CCDS11146 Q8IWD5 MGI:2384904 RGD:1307767 HGNC:26656 "ENST00000329805.6|NM_152599.4" +HGNC:28486 MFSD8 major facilitator superfamily domain containing 8 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 MGC33302 CLN7 ceroid-lipofuscinosis, neuronal 7, late infantile, variant 2007-02-19 2021-04-13 256471 ENSG00000164073 OTTHUMG00000133303 uc003ifp.4 AK074564 NM_152778 "CCDS87259|CCDS3736|CCDS87255" Q8NHS3 17564970 MGI:1919425 RGD:1310132 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_833|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_833.xml" 611124 159521 HGNC:28486 "ENST00000641686.2|NM_001371596.2" HGNC:28486 +HGNC:28158 MFSD9 major facilitator superfamily domain containing 9 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 MGC11332 2007-01-12 2014-11-19 84804 ENSG00000135953 OTTHUMG00000130781 uc002tcb.3 NM_032718 CCDS2063 Q8NBP5 MGI:2443548 RGD:1562212 HGNC:28158 "ENST00000258436.10|NM_032718.5" +HGNC:16894 MFSD10 major facilitator superfamily domain containing 10 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "TETRAN|IT10C3" tetracycline transporter like protein 2008-03-03 2014-11-19 10227 ENSG00000109736 OTTHUMG00000122081 uc003gfz.4 L11669 NM_001120 "CCDS3365|CCDS87203" Q14728 "8353488|17362938" MGI:1915544 RGD:1311900 610977 HGNC:16894 "ENST00000355443.9|NM_001146069.2" +HGNC:25458 MFSD11 major facilitator superfamily domain containing 11 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ22196|FLJ20226" 2007-01-25 2014-11-19 79157 ENSG00000092931 OTTHUMG00000180484 uc060kmz.1 BC002753 NM_024311 "CCDS11750|CCDS56045" O43934 9358160 MGI:1917150 RGD:1307394 HGNC:25458 "ENST00000685175.1|NM_001242532.5" +HGNC:28299 MFSD12 major facilitator superfamily domain containing 12 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC20700|PP3501" C19orf28 chromosome 19 open reading frame 28 2004-03-24 2011-11-24 2011-11-24 2021-04-30 126321 ENSG00000161091 OTTHUMG00000180766 uc002lxz.5 AF218008 NM_174983 "CCDS42465|CCDS74256" Q6NUT3 33208952 MGI:3604804 RGD:1307722 617745 HGNC:28299 "ENST00000355415.7|NM_174983.5" +HGNC:26196 MFSD13A major facilitator superfamily domain containing 13A protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "FLJ22529|bA18I14.8" "C10orf77|TMEM180" transmembrane protein 180 2004-04-23 2015-10-26 2015-10-26 2015-10-26 79847 ENSG00000138111 OTTHUMG00000018961 uc001kvt.4 AK026182 NM_024789 CCDS7535 Q14CX5 12477932 MGI:1922396 RGD:1309313 HGNC:26196 "ENST00000238936.8|NM_024789.4" +HGNC:52163 MFSD13B major facilitator superfamily domain containing 13B (pseudogene) pseudogene pseudogene Approved 16p12.2 16p12.2 major facilitator superfamily domain containing 13B 2015-10-26 2018-01-12 2020-08-14 105371130 ENSG00000230872 OTTHUMG00000154703 NR_136333 MGI:1921716 HGNC:52163 +HGNC:23363 MFSD14A major facilitator superfamily domain containing 14A protein-coding gene gene with protein product Approved 1p21.2 01p21.2 DKFZP564L0864 HIAT1 hippocampus abundant transcript 1 2003-11-13 2015-11-02 2015-11-02 2016-10-05 64645 ENSG00000156875 OTTHUMG00000010755 uc001dst.4 AK096669 NM_033055 CCDS763 Q96MC6 9299464 MGI:1201609 RGD:9294064 HGNC:23363 "ENST00000370152.8|NM_033055.3" +HGNC:23376 MFSD14B major facilitator superfamily domain containing 14B protein-coding gene gene with protein product Approved 9q22.32 09q22.32 FLJ14753 HIATL1 hippocampus abundant transcript-like 1 2005-07-25 2015-11-02 2015-11-02 2015-11-02 84641 ENSG00000148110 OTTHUMG00000020265 uc004aur.4 AK027659 NM_032558 CCDS6710 Q5SR56 MGI:1913881 RGD:1308377 HGNC:23376 "ENST00000375344.8|NM_032558.3" +HGNC:23672 MFSD14C major facilitator superfamily domain containing 14C protein-coding gene gene with protein product Approved 9q22.33 09q22.33 MGC12945 HIATL2 hippocampus abundant transcript-like 2 2003-12-01 2015-11-02 2015-11-02 2017-11-23 84278 ENSG00000196312 OTTHUMG00000020317 uc004aws.3 BC005058 NM_032318 "CCDS87664|CCDS87665" Q5VZR4 HGNC:23672 +HGNC:14010 MGA MAX dimerization protein MGA protein-coding gene gene with protein product Approved 15q15 15q15 "KIAA0518|MAD5|MXD5|FLJ12634" MAX gene associated "MAX dimerization proteins|T-box transcription factors|MicroRNA protein coding host genes" "637|766|1691" 2002-11-11 2019-01-21 2019-01-21 23269 ENSG00000174197 OTTHUMG00000172719 uc010ucy.2 AB011090 NM_001164273.1 "CCDS55959|CCDS55960" Q8IWI9 MGI:1352483 RGD:1561597 616061 HGNC:14010 "ENST00000219905.13|NM_001164273.2" +HGNC:7043 MGAM maltase-glucoamylase protein-coding gene gene with protein product Approved 7q34 07q34 MGA alpha-glucosidase Glycoside hydrolase family 31 1413 1999-09-07 2015-03-19 2015-09-03 8972 ENSG00000257335 OTTHUMG00000158395 uc064isb.1 AF016833 NM_001365693 CCDS47727 O43451 9446624 MGI:1203495 RGD:1308368 154360 objectId:2627 "3.2.1.20|3.2.1.3" HGNC:7043 "ENST00000475668.6|NM_001365693.1" HGNC:7043 +HGNC:28101 MGAM2 maltase-glucoamylase 2 (putative) protein-coding gene gene with protein product Approved 7q34 07q34 Glycoside hydrolase family 31 1413 2015-03-19 2018-06-26 93432 ENSG00000257743 OTTHUMG00000158558 NM_001293626 CCDS78281 Q2M2H8 24870542 HGNC:28101 "ENST00000477922.4|NM_001293626.2" +HGNC:29969 MGARP mitochondria localized glutamic acid rich protein protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "OSAP|CESP-1|HUMMR" "ovary-specific acidic protein|corneal endothelium-specific protein 1|hypoxia up-regulated mitochondrial movement regulator" C4orf49 chromosome 4 open reading frame 49 2008-11-28 2012-04-17 2015-11-13 2015-11-13 84709 ENSG00000137463 OTTHUMG00000161325 uc003ihr.1 AF484960 NM_032623 CCDS43269 Q8TDB4 MGI:1914999 RGD:1586369 619684 HGNC:29969 "ENST00000398955.2|NM_032623.4" +HGNC:7044 MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "GNT-1|GLCNAC-TI|GnTI" "MGAT|GLYT1" mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 1991-09-12 2019-08-27 2019-08-27 4245 ENSG00000131446 OTTHUMG00000130937 uc003mmi.5 M61829 NM_001114618 CCDS4458 P26572 1827260 MGI:96973 RGD:620097 160995 2.4.1.101 HGNC:7044 "ENST00000307826.5|NM_002406.4" +HGNC:7045 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 14q21.3 14q21.3 GNT-II mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 1993-02-16 2019-08-27 2019-08-27 4247 ENSG00000168282 OTTHUMG00000140271 uc001wwr.4 U15128 NM_002408 CCDS9690 Q10469 7635144 MGI:2384966 RGD:620098 Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/ 602616 123216 2.4.1.143 HGNC:7045 "ENST00000305386.4|NM_002408.4" HGNC:7045 +HGNC:51244 MGAT2P1 MGAT2 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 2014-10-10 2014-10-10 100422588 ENSG00000233861 OTTHUMG00000022492 NG_026768 PGOHUM00000304871 HGNC:51244 +HGNC:51243 MGAT2P2 MGAT2 pseudogene 2 pseudogene pseudogene Approved Xq26.3 Xq26.3 2014-10-10 2014-10-10 100422589 ENSG00000238200 OTTHUMG00000022493 NG_026891 PGOHUM00000305343 HGNC:51243 +HGNC:7046 MGAT3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 GNT-III mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 1993-08-27 2019-08-27 2019-08-27 4248 ENSG00000128268 OTTHUMG00000030185 uc003axv.6 D13789 NM_002409 CCDS13994 Q09327 8370666 MGI:104532 RGD:3084 604621 2.4.1.144 HGNC:7046 "ENST00000341184.7|NM_002409.5" +HGNC:51356 MGAT3-AS1 MGAT3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 TapSAKI transcript predicting survival in AKI (acute kidney injury) Antisense RNAs 1987 2014-10-29 2014-10-29 104502417 ENSG00000227188 OTTHUMG00000151100 NR_126469 25294924 MGAT3-AS1 HGNC:51356 +HGNC:7047 MGAT4A alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "GnT-Iva|GnT-4a" "mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A" Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 1999-09-28 2018-06-18 2018-06-18 11320 ENSG00000071073 OTTHUMG00000130563 uc002sze.3 AB000616 NM_012214 "CCDS2036|CCDS54380" Q9UM21 10024668 MGI:2662992 RGD:1305650 604623 2.4.1.145 HGNC:7047 "ENST00000393487.6|NM_012214.3" +HGNC:7048 MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 GnT-Ivb "mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B" "Mannosyl-glycoprotein N-acetylglucosaminyltransferases|MicroRNA protein coding host genes" "435|1691" 1999-09-28 2018-06-18 2018-06-18 11282 ENSG00000161013 OTTHUMG00000130912 uc003mks.4 AB000624 NM_014275 "CCDS4449|CCDS4448" Q9UQ53 10372966 MGI:2143974 RGD:1562836 604561 2.4.1.145 HGNC:7048 "ENST00000292591.12|NM_014275.5" +HGNC:30871 MGAT4C MGAT4 family member C protein-coding gene gene with protein product Approved 12q21.31-q21.32 12q21.31-q21.32 HGNT-IV-H "mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)|MGAT4 family, member C" Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2006-02-02 2015-11-18 2018-02-13 25834 ENSG00000182050 OTTHUMG00000169846 uc001taj.5 NM_013244 CCDS9030 Q9UBM8 10570912 MGI:1914819 RGD:1307871 607385 2.4.1.145 HGNC:30871 "ENST00000611864.5|NM_001351288.2" +HGNC:43619 MGAT4D MGAT4 family member D protein-coding gene gene with protein product Approved 4q31.1 04q31.1 GnT1IP "glycosyltransferase 54 domain containing 1|mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase family, member D|GlcNAcT-I Inhibitory Protein" MGAT4 family, member D Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2014-07-14 2015-11-18 2016-07-06 152586 ENSG00000205301 OTTHUMG00000161376 NM_001277353 CCDS64066 A6NG13 "20805325|26371870" MGI:1914805 RGD:1310572 610310 2.4.1.- HGNC:43619 "ENST00000511113.6|NM_001277353.2" +HGNC:49418 MGAT4EP MGAT4 family member E, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 MGAT4 family, member E, pseudogene Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2014-07-14 2015-11-18 2020-08-14 641515 ENSG00000184774 OTTHUMG00000041380 NR_038135 MGI:1918251 RGD:1308112 HGNC:49418 +HGNC:49419 MGAT4FP MGAT4 family member F, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2019-08-27 2020-04-20 100506747 ENSG00000234761 OTTHUMG00000042049 NR_036557 MGI:3045320 PGOHUM00000244392 HGNC:49419 +HGNC:7049 MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 2q21.2-q21.3 02q21.2-q21.3 "GNT-V|MGAT5A" alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase "Mannosyl-glycoprotein N-acetylglucosaminyltransferases|MicroRNA protein coding host genes" "435|1691" 1994-07-26 2018-06-18 2018-06-18 4249 ENSG00000152127 OTTHUMG00000131681 uc061nyh.1 D17716 NM_002410 CCDS2171 Q09328 8292036 MGI:894701 RGD:620100 601774 2.4.1.155 HGNC:7049 "ENST00000281923.4|NM_002410.5" +HGNC:24140 MGAT5B alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B protein-coding gene gene with protein product Approved 17q25.2 17q25.2 "GnT-IX|FLJ25132|GnT-VB" mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B Mannosyl-glycoprotein N-acetylglucosaminyltransferases 435 2004-02-20 2018-06-18 2018-06-18 146664 ENSG00000167889 OTTHUMG00000177278 uc002jth.4 AB109185 NM_144677 "CCDS59299|CCDS11751|CCDS45788" Q3V5L5 "14617637|14623122" MGI:3606200 RGD:1305188 612441 HGNC:24140 "ENST00000569840.7|NM_001199172.2" +HGNC:17038 MGLL monoglyceride lipase protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "HU-K5|MGL|MAGL" monoacylglycerol lipase Lipases 464 2001-12-13 2019-08-22 11343 ENSG00000074416 OTTHUMG00000159641 uc003ejx.4 BC000551 NM_007283 "CCDS43148|CCDS58852|CCDS46902" Q99685 9495531 MGI:1346042 RGD:71039 609699 S33.979 objectId:1399 3.1.1.23 HGNC:17038 "ENST00000265052.10|NM_007283.7" +HGNC:16205 MGME1 mitochondrial genome maintenance exonuclease 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "bA504H3.4|DDK1" C20orf72 chromosome 20 open reading frame 72 Exonucleases 544 2001-07-17 2013-01-11 2013-01-11 2021-05-26 92667 ENSG00000125871 OTTHUMG00000031955 uc002wqh.5 NM_052865 "CCDS13131|CCDS82600|CCDS86934" Q9BQP7 "23313956|23358826|23434322" MGI:1921778 RGD:1307465 615076 354122 HGNC:16205 "ENST00000377710.10|NM_052865.4" HGNC:16205 +HGNC:7059 MGMT O-6-methylguanine-DNA methyltransferase protein-coding gene gene with protein product Approved 10q26.3 10q26.3 methylated-DNA--protein-cysteine methyltransferase Methyltransferase families 1398 1989-10-16 2016-10-05 4255 ENSG00000170430 OTTHUMG00000019261 uc001lkh.3 M29971 NM_002412 CCDS7660 P16455 MGI:96977 RGD:3087 156569 352561 HGNC:7059 "ENST00000651593.1|NM_002412.5" +HGNC:7060 MGP matrix Gla protein protein-coding gene gene with protein product Approved 12p12.3 12p12.3 Gla domain containing 1250 1991-08-01 2014-11-19 4256 ENSG00000111341 OTTHUMG00000168740 uc001rcn.3 M58549 NM_000900 "CCDS8669|CCDS53752" P08493 2394711 MGI:96976 RGD:3088 154870 123219 HGNC:7060 "ENST00000539261.6|NM_000900.5" HGNC:7060 +HGNC:20254 MGRN1 mahogunin ring finger 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA0544|RNF156" "mahogunin, ring finger 1|mahogunin ring finger 1, E3 ubiquitin protein ligase" "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2003-01-15 2016-03-21 2016-10-24 23295 ENSG00000102858 OTTHUMG00000176436 uc002cxa.4 AB011116 NM_001142289 "CCDS59256|CCDS45402|CCDS42115|CCDS45401" O60291 9628581 MGI:2447670 RGD:1311862 607559 HGNC:20254 "ENST00000262370.12|NM_015246.4" +HGNC:7061 MGST1 microsomal glutathione S-transferase 1 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 MGST-I GST12 Microsomal glutathione S-transferases 1469 1989-05-24 2016-10-05 4257 ENSG00000008394 OTTHUMG00000168816 uc001rdf.4 U46494 NM_145791 "CCDS8677|CCDS58209" P10620 MGI:1913850 RGD:70927 138330 2.5.1.18 HGNC:7061 "ENST00000396210.8|NM_020300.5" +HGNC:7063 MGST2 microsomal glutathione S-transferase 2 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 MGST-II Microsomal glutathione S-transferases 1469 1997-10-16 2016-10-05 4258 ENSG00000085871 OTTHUMG00000133382 uc021xsf.1 U77604 NM_002413 "CCDS3749|CCDS56339" Q99735 8703034 MGI:2448481 RGD:1311218 601733 2.5.1.18 HGNC:7063 "ENST00000265498.6|NM_002413.5" +HGNC:7064 MGST3 microsomal glutathione S-transferase 3 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 GST-III "microsomal glutathione S-transferase III|microsomal GST-3|microsomal GST-III" Microsomal glutathione S-transferases 1469 1997-10-16 2016-10-05 4259 ENSG00000143198 OTTHUMG00000034627 uc001gdf.4 AF026977 NM_004528 CCDS1249 O14880 9278457 MGI:1913697 RGD:1306373 604564 2.5.1.18 HGNC:7064 "ENST00000367889.8|NM_004528.4" +HGNC:53110 MHENCR melanoma highly expressed competing endogenous lncRNA for miR-425 and miR-489 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 melanoma highly expressed noncoding RNA Long non-coding RNAs with non-systematic symbols 1992 2017-02-10 2017-02-10 100505771 ENSG00000232442 OTTHUMG00000032983 NR_132417 28123636 HGNC:53110 +HGNC:51291 MHRT myosin heavy chain associated RNA transcript non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Myheart Long non-coding RNAs with non-systematic symbols 1992 2014-09-17 2017-07-24 2017-07-24 104564225 NR_126491 25119045 MGI:3642848 616096 MHRT HGNC:51291 +HGNC:7076 MIA MIA SH3 domain containing protein-coding gene gene with protein product Approved 19q13.2 19q13.2 CD-RAP melanoma inhibitory activity MIA family 1300 1999-12-14 2018-05-17 2018-05-17 8190 ENSG00000261857 OTTHUMG00000182693 uc060ywx.1 X75450 NM_001202553 CCDS12566 Q16674 "7923218|8661134" MGI:109615 RGD:620883 601340 HGNC:7076 "ENST00000263369.4|NM_006533.4" +HGNC:48352 MIA-RAB4B MIA-RAB4B readthrough (NMD candidate) other readthrough Approved 19q13.2 19q13.2 2013-05-10 2013-05-10 100529262 ENSG00000268975 OTTHUMG00000182782 NR_037775 HGNC:48352 +HGNC:18432 MIA2 MIA SH3 domain ER export factor 2 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "FLJ22404|TALI|MEA6|cTAGE-5A|cTAGE-5B|cTAGE-5C|cTAGE-5D|MGEA11" TANGO1-like "CTAGE5|MGEA|MGEA6" "CTAGE family member 5, ER export factor|meningioma expressed antigen 6 (coiled-coil proline-rich)|CTAGE family member 5|melanoma inhibitory activity 2" "CTAGE family|MIA family" "907|1300" 2003-10-02 2018-05-17 2020-04-20 4253 ENSG00000150527 OTTHUMG00000028831 uc001wux.4 BC035981 NM_054024 "CCDS9676|CCDS86385|CCDS58317|CCDS86384|CCDS9673|CCDS9674|CCDS9675|CCDS9672|CCDS86386|CCDS58316" Q96PC5 "12586826|27138255" MGI:2159614 RGD:6488546 602132 HGNC:18432 "ENST00000640607.2|NM_001329214.4" +HGNC:55436 MIA2-AS1 MIA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Antisense RNAs 1987 2021-01-14 2021-01-14 100288846 ENSG00000258940 NR_038935 +HGNC:24008 MIA3 MIA SH3 domain ER export factor 3 protein-coding gene gene with protein product Approved 1q41 01q41 "UNQ6077|FLJ39207|KIAA0268|TANGO|TANGO1" "C219 reactive peptide|transport and golgi organization" "melanoma inhibitory activity family member 3|MIA family member 3, ER export factor" "CTAGE family|MIA family" "907|1300" 2006-01-24 2006-07-25 2018-05-17 2018-05-17 375056 ENSG00000154305 OTTHUMG00000037543 uc001hnl.4 NM_198551 "CCDS73035|CCDS41470" Q5JRA6 "15183315|21525241" MGI:2443183 RGD:1591600 613455 HGNC:24008 "ENST00000344922.10|NM_198551.4" +HGNC:33425 MIAT myocardial infarction associated transcript non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 "FLJ25967|Rncr2|gomafu|NCRNA00066|LINC00066|lncRNA-MIAT" "non-protein coding RNA 66|long intergenic non-protein coding RNA 66" C22orf35 "chromosome 22 open reading frame 35|myocardial infarction associated transcript (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2007-03-22 2018-05-16 2018-05-16 440823 ENSG00000225783 OTTHUMG00000150985 uc032qkk.2 AB263414 NR_003491 "17066261|17623775|23628989|23726844" MGI:2444886 RGD:7567380 611082 gomafu HGNC:33425 +HGNC:50731 MIATNB MIAT neighbor non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 MIAT neighbor (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-06-13 2018-05-16 2018-05-16 102724827 ENSG00000244625 OTTHUMG00000150981 AK026502 NR_110543 HGNC:50731 +HGNC:21086 MIB1 MIB E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "DIP-1|MIB|KIAA1323|ZZANK2|ZZZ6" DAPK-interacting protein 1 mindbomb homolog 1 (Drosophila) "Ring finger proteins|Zinc fingers ZZ-type|Ankyrin repeat domain containing|MicroRNA protein coding host genes" "58|91|403|1691" 2004-06-18 2020-10-29 2021-04-13 57534 ENSG00000101752 OTTHUMG00000131753 uc002ktq.5 AB037744 NM_020774 CCDS11871 Q86YT6 MGI:2443157 RGD:1307195 LRG_759|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_759.xml 608677 326843 HGNC:21086 "ENST00000261537.7|NM_020774.4" HGNC:21086 +HGNC:30577 MIB2 MIB E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "skeletrophin|ZZZ5|FLJ39787" ZZANK1 "zinc finger, ZZ type with ankyrin repeat domain 1|mindbomb homolog 2 (Drosophila)" "Ring finger proteins|Zinc fingers ZZ-type|Ankyrin repeat domain containing" "58|91|403" 2004-12-21 2005-04-01 2020-10-29 2020-10-29 142678 ENSG00000197530 OTTHUMG00000074647 uc001agg.4 AK097106 NM_080875 CCDS53264 Q96AX9 12761501 MGI:2679684 RGD:1359469 611141 HGNC:30577 "ENST00000355826.10|NM_001170687.4" +HGNC:7090 MICA MHC class I polypeptide-related sequence A protein-coding gene gene with protein product Approved 6p21.33 06p21.33 PERB11.1 C1-set domain containing 591 1994-05-16 2020-04-20 100507436 ENSG00000204520 OTTHUMG00000031073 uc011inc.3 L14848 NM_001177519 "CCDS75421|CCDS56412" Q29983 8022771 MGI:2179989 RGD:1311714 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 600169 HGNC:7090 "ENST00000449934.7|NM_001177519.3" +HGNC:53631 MICA-AS1 MICA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 Antisense RNAs 1987 2017-08-04 2017-08-04 101929072 NR_148222 HGNC:53631 +HGNC:20619 MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 protein-coding gene gene with protein product Approved 6q21 06q21 "MICAL|FLJ11937|DKFZp434B1517|FLJ21739" protein-methionine sulfoxide oxidase MICAL1 NICAL NEDD9 interacting protein with calponin homology and LIM domains LIM domain containing 1218 2003-05-20 2005-02-16 2013-03-26 2016-10-03 64780 ENSG00000135596 OTTHUMG00000015350 uc003ptk.4 AB048948 NM_022765 "CCDS55047|CCDS69170|CCDS5076" Q8TDZ2 11827972 MGI:2385847 RGD:1309386 607129 HGNC:20619 "ENST00000358807.8|NM_022765.4" +HGNC:24693 MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "KIAA0750|FLJ14966" MICALCL MICAL C-terminal like "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2005-02-16 2013-03-26 2021-07-14 9645 ENSG00000133816 OTTHUMG00000165744 uc001mjz.5 AB018293 NM_014632 "CCDS60726|CCDS60727|CCDS60728|CCDS7809" O94851 12110185 MGI:2444947 RGD:1311773 608881 HGNC:24693 "ENST00000683283.1|NM_001282663.2" +HGNC:24694 MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 KIAA0819 "LIM domain containing|MicroRNA protein coding host genes" "1218|1691" 2005-02-16 2013-03-26 2016-10-03 57553 ENSG00000243156 OTTHUMG00000150067 uc002zng.5 AB037785 NM_001122731 "CCDS46660|CCDS46659|CCDS46661" Q7RTP6 12110185 MGI:2442733 RGD:1359504 608882 HGNC:24694 "ENST00000441493.7|NM_015241.3" +HGNC:29804 MICALL1 MICAL like 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "MIRAB13|KIAA1668|MICAL-L1" molecule interacting with Rab13 MICAL-like 1 LIM domain containing 1218 2006-11-24 2015-12-07 2015-12-07 85377 ENSG00000100139 OTTHUMG00000150670 uc003aui.4 BK000466 NM_033386 CCDS13961 Q8N3F8 "11258795|12110185" MGI:105870 RGD:1305415 619563 HGNC:29804 "ENST00000215957.10|NM_033386.4" +HGNC:29672 MICALL2 MICAL like 2 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "MGC46023|FLJ23471|MICAL-L2|JRAB" junctional Rab13-binding protein LIM domain containing 1218 2006-11-24 2016-02-16 2016-02-16 79778 ENSG00000164877 OTTHUMG00000119021 uc003skj.5 BC037988 NM_182924 CCDS5324 Q8IY33 "12110185|16525024" MGI:2444818 RGD:1307875 HGNC:29672 "ENST00000297508.8|NM_182924.4" +HGNC:56050 MICALL2-DT MICALL2 divergent transcript non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 2021-12-09 2021-12-09 107986756 ENSG00000225981 XR_001745046 +HGNC:7091 MICB MHC class I polypeptide-related sequence B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 PERB11.2 C1-set domain containing 591 1994-05-16 2016-10-05 4277 ENSG00000204516 OTTHUMG00000031074 uc003nto.6 NM_005931 "CCDS43449|CCDS75422|CCDS75423" Q29980 8022771 MGI:2179989 RGD:1564508 IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/ 602436 HGNC:7091 "ENST00000252229.7|NM_005931.5" +HGNC:53632 MICB-DT MICB divergent transcript non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 TCONS_00012692 Divergent transcripts 1990 2017-08-04 2017-08-04 102725068 NR_149132 HGNC:53632 +HGNC:7092 MICC MHC class I polypeptide-related sequence C (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 PERB11.3 MHC class I polypeptide-related sequence C 1994-09-07 2011-05-05 2020-04-20 100129192 ENSG00000226577 OTTHUMG00000031078 NG_027534 8022771 PGOHUM00000243573 HGNC:7092 +HGNC:7093 MICD MHC class I polypeptide-related sequence D (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 PERB11.4 "MHC class I polypeptide-related sequence D|MHC class I polypeptide-related sequence D, pseudogene" 1994-09-07 2011-05-05 2016-10-05 4279 ENSG00000229390 OTTHUMG00000031082 NG_015983 "8022771|10557312" PGOHUM00000243132 HGNC:7093 +HGNC:7094 MICE MHC class I polypeptide-related sequence E (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 "dJ377H14.7|PERB11.5" MHC class I polypeptide-related sequence E 1994-09-07 2011-05-05 2020-12-11 4280 ENSG00000273340 OTTHUMG00000031084 NG_002916 10331161 PGOHUM00000243127 HGNC:7094 +HGNC:16801 MICF MHC class I polypeptide-related sequence F (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 MHC class I polypeptide-related sequence F, pseudogene 2003-05-22 2011-05-05 2016-08-17 352957 ENSG00000233265 OTTHUMG00000031085 NG_015984 10557312 HGNC:16801 +HGNC:16802 MICG MHC class I polypeptide-related sequence G (pseudogene) pseudogene pseudogene Approved 6p22.1 06p22.1 MHC class I polypeptide-related sequence G, pseudogene 2003-05-22 2011-05-05 2016-08-17 352967 ENSG00000237042 OTTHUMG00000031087 NG_002733 10557312 HGNC:16802 +HGNC:32068 MICOS10 mitochondrial contact site and cristae organizing system subunit 10 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "RP5-1056L3.2|FLJ36999|MIO10|Mic10" "C1orf151|MINOS1" "chromosome 1 open reading frame 151|mitochondrial inner membrane organizing system 1" Mitochondrial contact site and cristae organizing system subunits 1616 2005-07-13 2018-11-16 2018-11-16 2018-11-16 440574 ENSG00000173436 OTTHUMG00000002712 uc001bci.3 AK094318 NM_001032363 "CCDS72719|CCDS30620" Q5TGZ0 "21944719|24687277" MGI:1913628 RGD:1560187 616574 470662 HGNC:32068 "ENST00000322753.7|NM_001032363.4" +HGNC:55676 MICOS10-DT MICOS10 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Divergent transcripts 1990 2021-07-01 2021-07-01 105378614 ENSG00000235185 NR_135054 +HGNC:48338 MICOS10-NBL1 MICOS10-NBL1 readthrough other readthrough Approved 1p36.13 01p36.13 MINOS1-NBL1 MINOS1-NBL1 readthrough 2013-05-09 2018-11-16 2018-11-16 2018-11-16 100532736 ENSG00000270136 OTTHUMG00000183956 NM_001204088 MGI:104591 HGNC:48338 +HGNC:25036 MICOS10P1 MICOS10 pseudogene 1 pseudogene pseudogene Approved 13q13.1 13q13.1 CG012 "N4BP2L2IT1|N4BP2L2-IT1|MINOS1P1" "N4BPL2 intronic transcript 1 (non-protein coding)|N4BP2L2 intronic transcript 1 (non-protein coding)|mitochondrial inner membrane organizing system 1 pseudogene 1" 2010-08-05 2018-11-16 2018-11-16 2020-04-20 100462953 "AL049782|U50530" NR_051980 8812419 PGOHUM00000256720 HGNC:25036 +HGNC:44092 MICOS10P2 MICOS10 pseudogene 2 pseudogene pseudogene Approved 17q24.1 17q24.1 MINOS1P2 mitochondrial inner membrane organizing system 1 pseudogene 2 2012-06-22 2018-11-16 2018-11-16 2018-11-16 100289489 ENSG00000270714 OTTHUMG00000184949 NG_022912 PGOHUM00000294192 HGNC:44092 +HGNC:44093 MICOS10P3 MICOS10 pseudogene 3 pseudogene pseudogene Approved 3p24.1 03p24.1 MINOS1P3 mitochondrial inner membrane organizing system 1 pseudogene 3 2012-06-22 2018-11-16 2018-11-16 2018-11-16 100462954 ENSG00000224237 OTTHUMG00000155687 NG_022915 PGOHUM00000257059 HGNC:44093 +HGNC:44094 MICOS10P4 MICOS10 pseudogene 4 pseudogene pseudogene Approved 4q21.21 04q21.21 MINOS1P4 mitochondrial inner membrane organizing system 1 pseudogene 4 2012-06-22 2018-11-16 2018-11-16 2018-11-16 100462957 ENSG00000248117 OTTHUMG00000160898 NG_022916 PGOHUM00000257092 HGNC:44094 +HGNC:33702 MICOS13 mitochondrial contact site and cristae organizing system subunit 13 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "QIL1|P117|MIC13|MIC12" C19orf70 chromosome 19 open reading frame 70 Mitochondrial contact site and cristae organizing system subunits 1616 2008-08-06 2018-11-16 2018-11-16 2020-10-30 125988 ENSG00000174917 OTTHUMG00000180503 uc002mch.2 BC009557 NM_205767 "CCDS77221|CCDS12143" Q5XKP0 "25997101|26477565|27485409" MGI:2442174 RGD:1588578 616658 470018 HGNC:33702 "ENST00000309324.9|NM_205767.3" HGNC:33702 +HGNC:1530 MICU1 mitochondrial calcium uptake 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "CALC|EFHA3|FLJ12684" CBARA1 calcium binding atopy-related autoantigen 1 EF-hand domain containing 863 1999-11-22 2011-06-23 2011-06-23 2021-05-26 10367 ENSG00000107745 OTTHUMG00000018437 uc001jtb.3 Y17711 NM_006077 "CCDS55714|CCDS86101|CCDS55715" Q9BPX6 "9806765|20693986" MGI:2384909 RGD:735033 605084 403288 HGNC:1530 "ENST00000361114.10|NM_001195518.2" HGNC:1530 +HGNC:31830 MICU2 mitochondrial calcium uptake 2 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 EFHA1 "EF hand domain family A1|EF-hand domain family, member A1" EF-hand domain containing 863 2004-10-13 2013-03-13 2013-03-13 2014-11-19 221154 ENSG00000165487 OTTHUMG00000067414 uc001uof.4 AK091907 NM_152726 CCDS9297 Q8IYU8 23409044 MGI:1915764 RGD:619739 610632 HGNC:31830 "ENST00000382374.9|NM_152726.3" +HGNC:27820 MICU3 mitochondrial calcium uptake family member 3 protein-coding gene gene with protein product Approved 8p22 08p22 DKFZp313A0139 EFHA2 "EF hand domain family A2|EF-hand domain family, member A2|mitochondrial calcium uptake family, member 3" EF-hand domain containing 863 2004-10-13 2013-03-14 2015-11-18 2015-11-18 286097 ENSG00000155970 OTTHUMG00000096965 uc003wxd.3 BC032868 NM_181723 CCDS5999 Q86XE3 23409044 MGI:1925756 RGD:1563411 610633 HGNC:27820 "ENST00000318063.10|NM_181723.3" +HGNC:7095 MID1 midline 1 protein-coding gene gene with protein product Approved Xp22 Xp22 "OS|FXY|TRIM18|RNF59" Opitz/BBB syndrome "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 1997-12-12 2014-06-18 2020-04-02 4281 ENSG00000101871 OTTHUMG00000021127 uc004cti.5 Y13667 NM_000381 "CCDS14138|CCDS75952" O15344 "9354791|9425238" MGI:1100537 RGD:2640 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MID1 300552 123221 HGNC:7095 "ENST00000317552.9|NM_000381.4" HGNC:7095 +HGNC:20715 MID1IP1 MID1 interacting protein 1 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "STRAIT11499|FLJ10386|MIG12|THRSPL|G12-like" gastrulation specific G12 homolog (zebrafish) MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish)) 2004-09-06 2012-02-23 2015-08-25 58526 ENSG00000165175 OTTHUMG00000024092 uc004dej.6 NM_001098790 CCDS14249 Q9NPA3 MGI:1915291 RGD:1303258 300961 HGNC:20715 "ENST00000614558.3|NM_021242.6" +HGNC:40932 MID1IP1-AS1 MID1IP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.4 Xp11.4 MID1IP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2021-06-28 100874211 ENSG00000238123 OTTHUMG00000024093 uc033dzm.2 NR_046706 MID1IP1-AS1 HGNC:40932 +HGNC:7096 MID2 midline 2 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "FXY2|TRIM1|RNF60|MRX101" "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 1999-08-25 2020-04-02 11043 ENSG00000080561 OTTHUMG00000022171 uc004enl.4 NM_012216 "CCDS14532|CCDS14533" Q9UJV3 10400986 MGI:1344333 RGD:1565674 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MID2 300204 394877 HGNC:7096 "ENST00000262843.11|NM_012216.4" HGNC:7096 +HGNC:19853 MIDEAS mitotic deacetylase associated SANT domain protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 LSR68 "C14orf117|C14orf43|ELMSAN1" "chromosome 14 open reading frame 117|chromosome 14 open reading frame 43|ELM2 and Myb/SANT domain containing 1" "Myb/SANT domain containing|MiDAC complex subunits" "532|2103" 2002-11-27 2019-10-11 2019-10-11 2019-10-11 91748 ENSG00000156030 OTTHUMG00000150359 uc001xou.4 BF971739 NM_194278 CCDS9819 Q6PJG2 MGI:2685106 RGD:1306119 HGNC:19853 "ENST00000423556.7|NM_001367710.1" +HGNC:56194 MIDEAS-AS1 MIDEAS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Antisense RNAs 1987 2022-01-31 2022-01-31 100506476 ENSG00000259065 NR_109995 +HGNC:16298 MIDN midnolin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Stx stuxnet homolog (Drosophila) 2001-07-23 2021-02-04 90007 ENSG00000167470 OTTHUMG00000180144 uc002lrp.4 AC004221 NM_001388306 CCDS32864 Q504T8 10974535 MGI:1890222 RGD:1309629 606700 HGNC:16298 "ENST00000682408.1|NM_001388306.1" +HGNC:25979 MIEF1 mitochondrial elongation factor 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "FLJ20232|MiD51|L0R8F8" MIEF1 upstream open reading frame protein SMCR7L Smith-Magenis syndrome chromosome region, candidate 7-like 2006-06-26 2013-09-23 2013-09-23 2019-12-20 54471 ENSG00000100335 OTTHUMG00000151105 AL365515 NM_019008 "CCDS77678|CCDS13995" "L0R8F8|Q9NQG6" "21508961|21701560" MGI:2146020 RGD:1359173 615497 HGNC:25979 "ENST00000325301.7|NM_019008.6" +HGNC:17920 MIEF2 mitochondrial elongation factor 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "MGC23130|MiD49" SMCR7 Smith-Magenis syndrome chromosome region, candidate 7 2002-01-09 2013-09-23 2013-09-23 2014-11-19 125170 ENSG00000177427 OTTHUMG00000059392 BC014973 NM_139162 "CCDS45625|CCDS11193|CCDS45624" Q96C03 "11997338|21508961" MGI:2144199 RGD:1560728 615498 HGNC:17920 "ENST00000323019.9|NM_139162.4" +HGNC:28230 MIEN1 migration and invasion enhancer 1 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC14832|ORB3|XTP4|C35|Rdx12" C17orf37 chromosome 17 open reading frame 37 2004-01-08 2011-09-21 2011-09-21 2015-08-25 84299 ENSG00000141741 OTTHUMG00000133252 uc002hsq.4 AJ308025 NM_032339 "CCDS82115|CCDS11344" Q9BRT3 "17121940|12739007|17503775|21628459" MGI:1913678 RGD:1306682 611802 HGNC:28230 "ENST00000394231.8|NM_032339.5" +HGNC:29657 MIER1 MIER1 transcriptional regulator protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "hMI-ER1|MI-ER1|KIAA1610" "mesoderm induction early response 1 homolog (Xenopus laevis)|mesoderm induction early response 1, transcriptional regulator" Myb/SANT domain containing 532 2005-07-14 2016-01-27 2016-10-05 57708 ENSG00000198160 OTTHUMG00000009194 uc001ddj.2 NM_020948 "CCDS53328|CCDS60163|CCDS53325|CCDS53326|CCDS53327|CCDS53329|CCDS53330|CCDS41347|CCDS41348" Q8N108 "12242014|12482978" MGI:1918398 RGD:1562337 616848 HGNC:29657 "ENST00000401041.6|NM_001077700.3" +HGNC:29210 MIER2 MIER family member 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 KIAA1193 "KIAA1193|mesoderm induction early response 1, family member 2" Myb/SANT domain containing 532 2004-02-10 2006-04-20 2016-01-27 2018-11-16 54531 ENSG00000105556 OTTHUMG00000180532 uc002lok.2 AB033019 NM_017550 CCDS32855 Q8N344 10574462 MGI:1917677 RGD:1307278 HGNC:29210 "ENST00000264819.7|NM_017550.3" +HGNC:26678 MIER3 MIER family member 3 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "FLJ35954|DKFZp686L09111|DKFZp781I1119" mesoderm induction early response 1, family member 3 Myb/SANT domain containing 532 2006-04-20 2016-01-27 2018-06-04 166968 ENSG00000155545 OTTHUMG00000059589 uc003jra.2 BX537798 NM_152622 "CCDS78011|CCDS75248|CCDS3973" Q7Z3K6 28046085 MGI:2442317 RGD:1311241 HGNC:26678 "ENST00000381199.8|NM_001297599.2" +HGNC:7097 MIF macrophage migration inhibitory factor protein-coding gene gene with protein product Approved 22q11.23 22q11.23 GIF "glycosylation-inhibiting factor|phenylpyruvate tautomerase" GLIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) 1993-10-15 2017-08-04 2018-02-16 4282 ENSG00000240972 OTTHUMG00000150773 uc002zyr.2 M25639 NM_002415 CCDS13819 P14174 "7558020|2552447" MGI:96982 RGD:621163 153620 123227 ligandId:9981 5.3.2.1 HGNC:7097 "ENST00000215754.8|NM_002415.2" +HGNC:27669 MIF-AS1 MIF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 "LOC284889|MIF-AS" Antisense RNAs 1987 2014-08-13 2016-11-30 284889 ENSG00000218537 OTTHUMG00000150772 NR_038911 "24066864|26895959" MIF-AS1 HGNC:27669 +HGNC:24030 MIF4GD MIF4G domain containing protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "AD023|MGC45027|SLIP1" SLBP-interacting protein 1 MIFD MIF4G domain containing proteins 2128 2005-12-15 2020-04-01 57409 ENSG00000125457 OTTHUMG00000179485 uc002jnr.5 CR605810 NM_020679 "CCDS11719|CCDS58598|CCDS56044" A9UHW6 "22532700|18025107" MGI:1916924 RGD:1309685 612072 HGNC:24030 "ENST00000325102.13|NM_001370592.1" +HGNC:55335 MIF4GD-DT MIF4GD divergent transcript non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 Divergent transcripts 1990 2020-10-21 2020-10-21 100287042 ENSG00000263843 NR_036520 +HGNC:24741 MIGA1 mitoguardin 1 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FLJ35093 FAM73A family with sequence similarity 73 member A 2005-08-11 2016-06-20 2016-06-20 2016-06-20 374986 ENSG00000180488 OTTHUMG00000009766 uc001dhx.5 NM_198549 "CCDS681|CCDS72809|CCDS85989" Q8NAN2 26716412 MGI:1924567 RGD:1559958 616773 HGNC:24741 "ENST00000370791.8|NM_198549.4" +HGNC:23621 MIGA2 mitoguardin 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "FLJ14596|FLJ00199" "C9orf54|FAM73B" "chromosome 9 open reading frame 54|family with sequence similarity 73, member B|family with sequence similarity 73 member B" 2003-12-17 2016-06-20 2016-06-20 2016-10-05 84895 ENSG00000148343 OTTHUMG00000020770 uc004bxa.4 AK074127 NM_032809 CCDS6917 Q7L4E1 26716412 MGI:1922035 RGD:1310887 616774 HGNC:23621 "ENST00000684074.1|NM_001329990.2" +HGNC:25715 MIIP migration and invasion inhibitory protein protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "FLJ12438|IIp45" invasion inhibitory protein 45 MicroRNA protein coding host genes 1691 2009-04-28 2014-11-19 60672 ENSG00000116691 OTTHUMG00000002439 uc001ato.3 AK022500 NM_021933 CCDS143 Q5JXC2 "15867349|14617774" MGI:106506 RGD:1587376 608772 HGNC:25715 "ENST00000235332.6|NM_021933.4" +HGNC:43649 MILIP MYC inducible lncRNA inactivating p53 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 c-Myc-Inducible Long noncoding RNA Inactivating P53 "MAFG-AS1|MAFG-DT" "MAFG antisense RNA 1 (non-protein coding)|MAFG antisense RNA 1|MAFG antisense RNA 1 (head to head)|MAFG divergent transcript" Long non-coding RNAs with non-systematic symbols 1992 2011-12-19 2022-03-23 2022-03-23 2022-03-25 92659 ENSG00000265688 OTTHUMG00000178435 uc021ufh.2 NR_015454 33020477 MAFG-AS1 HGNC:43649 +HGNC:27570 MILR1 mast cell immunoglobulin like receptor 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "Allergin-1|MCA-32" "allergy inhibitory receptor 1|mast cell antigen 32" C17orf60 "chromosome 17 open reading frame 60|mast cell immunoglobulin-like receptor 1" Immunoglobulin like domain containing 594 2005-12-16 2011-07-12 2016-04-04 2020-04-01 284021 ENSG00000271605 OTTHUMG00000185198 uc010wpz.4 BC053534 NM_001085423 "CCDS74133|CCDS77088|CCDS77087" Q7Z6M3 20526344 MGI:2685731 RGD:620488 HGNC:27570 "ENST00000619286.5|NM_001085423.2" +HGNC:33464 MIMT1 MER1 repeat containing imprinted transcript 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 "MIM1|NCRNA00067|LINC00067" "non-protein coding RNA 67|long intergenic non-protein coding RNA 67" MER1 repeat containing imprinted transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2007-06-13 2018-05-16 2018-05-16 100073347 ENSG00000268654 OTTHUMG00000182170 uc010ett.2 EF110915 NR_024059 "17509818|26417259" MIMT1 HGNC:33464 +HGNC:29172 MINAR1 membrane integral NOTCH2 associated receptor 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 UBTOR major intrinsically disordered Notch2-associated receptor 1 KIAA1024 KIAA1024 2007-12-12 2018-07-23 2018-07-23 2018-09-11 23251 ENSG00000169330 OTTHUMG00000172073 uc002bew.2 AB028947 NM_015206 CCDS32306 Q9UPX6 "10470851|29329397|30080879" MGI:2667167 RGD:1591930 618054 HGNC:29172 "ENST00000305428.8|NM_015206.3" +HGNC:33914 MINAR2 membrane integral NOTCH2 associated receptor 2 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 KIAA1024L KIAA1024 like 2007-12-12 2018-07-23 2018-07-23 2018-07-23 100127206 ENSG00000186367 OTTHUMG00000163041 uc031skx.2 NM_001257308 CCDS58966 P59773 MGI:2442934 RGD:1312005 HGNC:33914 "ENST00000564719.2|NM_001257308.2" +HGNC:51653 MINCR MYC-induced long non-coding RNA non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 TCONS_00015189 LINC01604 "long intergenic non-protein coding RNA 1604|MYC-induced long noncoding RNA" Long non-coding RNAs with non-systematic symbols 1992 2015-04-24 2015-09-23 2017-06-07 2017-06-07 100507316 ENSG00000253716 OTTHUMG00000164976 NR_120682 26351698 MINCR HGNC:51653 +HGNC:25648 MINDY1 MINDY lysine 48 deubiquitinase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "FLJ11280|MINDY-1" "MIU-containing novel DUB family member 1|motif interacting with Ub-containing novel DUB" FAM63A "family with sequence similarity 63 member A|MINDY deubiquitinase 1" MINDY deubiquitinases 1376 2005-04-22 2017-01-31 2017-01-31 2018-06-21 55793 ENSG00000143409 OTTHUMG00000035061 uc001ewg.4 BC032321 NM_018379 "CCDS30854|CCDS55635|CCDS976" Q8N5J2 "10718198|27292798" MGI:1922257 RGD:1559660 618407 HGNC:25648 "ENST00000683666.2|NM_001376665.1" +HGNC:26954 MINDY2 MINDY lysine 48 deubiquitinase 2 protein-coding gene gene with protein product Approved 15q21.3-q22.1 15q21.3-q22.1 KIAA1164 FAM63B "family with sequence similarity 63 member B|MINDY deubiquitinase 2" MINDY deubiquitinases 1376 2005-04-22 2017-01-31 2017-01-31 2018-06-21 54629 ENSG00000128923 OTTHUMG00000171983 uc002afj.4 AK075319 NM_019092 "CCDS42046|CCDS45268" Q8NBR6 10574461 MGI:2443086 RGD:1311456 618408 HGNC:26954 "ENST00000559228.6|NM_001040450.3" +HGNC:55889 MINDY2-DT MINDY2 divergent transcript non-coding RNA RNA, long non-coding Approved 15q21.3 15q21.3 Divergent transcripts 1990 2021-09-30 2021-09-30 101928725 ENSG00000245975 NR_135474 +HGNC:23578 MINDY3 MINDY lysine 48 deubiquitinase 3 protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ13397|CARP|my042|DERP5" "caspase recruitment domain containing pro-apoptotic protein|CARD-containing protein" "C10orf97|FAM188A" "chromosome 10 open reading frame 97|family with sequence similarity 188 member A|MINDY deubiquitinase 3" MINDY deubiquitinases 1376 2004-04-15 2017-01-31 2017-01-31 2018-06-21 80013 ENSG00000148481 OTTHUMG00000017734 uc001iod.2 AK023459 NM_024948 CCDS7110 Q9H8M7 "12054670|17652099|27292798" MGI:1914210 RGD:1309605 611649 HGNC:23578 "ENST00000277632.8|NM_024948.4" +HGNC:21916 MINDY4 MINDY lysine 48 deubiquitinase 4 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 FLJ22374 "C7orf67|FAM188B" "chromosome 7 open reading frame 67|family with sequence similarity 188 member B|MINDY deubiquitinase 4" MINDY deubiquitinases 1376 2009-03-10 2017-01-31 2017-01-31 2018-06-21 84182 ENSG00000106125 OTTHUMG00000152800 uc003tbt.3 AK026027 NM_032222 CCDS43565 Q4G0A6 MGI:3583959 RGD:1562590 HGNC:21916 "ENST00000265299.6|NM_032222.3" +HGNC:35475 MINDY4B MINDY family member 4B protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "C3orf76|FAM188B2" "chromosome 3 open reading frame 76|family with sequence similarity 188 member B2" MINDY deubiquitinases 1376 2009-03-10 2017-01-31 2017-01-31 2018-11-16 646951 ENSG00000214237 OTTHUMG00000159843 NM_001351281 A8MYZ0 RGD:11362385 HGNC:35475 "ENST00000465419.7|NM_001351281.2" +HGNC:17565 MINK1 misshapen like kinase 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "B55|MINK|ZC3|MAP4K6|YSK2" misshapen/NIK-related kinase "misshapen-like kinase 1 (zebrafish)|misshapen-like kinase 1" "STRIPAK complex|Armadillo like helical domain containing" "1371|1492" 2005-01-20 2016-04-04 2016-04-04 50488 ENSG00000141503 OTTHUMG00000177932 uc010vsl.3 AY775058 NM_015716 "CCDS45588|CCDS45590|CCDS45589" Q8N4C8 "10708748|12087176" MGI:1355329 RGD:1359135 609426 470660 objectId:2103 HGNC:17565 "ENST00000355280.11|NM_153827.5" +HGNC:7102 MINPP1 multiple inositol-polyphosphate phosphatase 1 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 MIPP multiple inositol polyphosphate histidine phosphatase, 1 "Phosphoinositide phosphatases|MicroRNA protein coding host genes" "1079|1691" 1998-11-19 2010-05-04 2016-10-05 9562 ENSG00000107789 OTTHUMG00000018678 uc001keu.4 AF046915 NM_001178117 "CCDS7384|CCDS53551|CCDS53552" Q9UNW1 10087200 MGI:1336159 RGD:3089 605391 3.1.3.62 HGNC:7102 "ENST00000371996.9|NM_004897.5" HGNC:7102 +HGNC:21905 MIOS meiosis regulator for oocyte development protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "FLJ20323|MIO|Sea4|Yulink" WD repeat-containing protein mio "missing oocyte, meiosis regulator, homolog (Drosophila)|missing oocyte meiosis regulator homolog" "WD repeat domain containing|GATOR2 subcomplex" "362|1395" 2009-01-27 2016-05-24 2018-03-26 54468 ENSG00000164654 OTTHUMG00000152440 uc003srf.4 NM_019005 CCDS43554 Q9NXC5 "14973288|25512509|23723238" MGI:2182066 RGD:1308432 615359 HGNC:21905 "ENST00000340080.9|NM_019005.4" +HGNC:55187 MIOS-DT MIOS divergent transcript non-coding RNA RNA, long non-coding Approved 7p21.3 07p21.3 Divergent transcripts 1990 2020-08-12 2020-08-12 101927391 ENSG00000272894 NR_110084 +HGNC:14522 MIOX myo-inositol oxygenase protein-coding gene gene with protein product Approved 22q13.33 22q13.33 kidney-specific protein 32 ALDRL6 aldehyde reductase (aldose reductase) like 6 2002-02-06 2005-06-15 2005-06-15 2018-03-06 55586 ENSG00000100253 OTTHUMG00000150207 uc003blm.2 AF197129 NM_017584 CCDS14092 Q9UGB7 "10944187|11716759" MGI:1891725 RGD:628739 606774 HGNC:14522 "ENST00000216075.11|NM_017584.6" +HGNC:50748 MIOXP1 myo-inositol oxygenase pseudogene 1 pseudogene pseudogene Approved 8q21.3 08q21.3 2014-06-13 2014-06-13 100419614 ENSG00000253292 OTTHUMG00000163739 NG_016980 PGOHUM00000249420 HGNC:50748 +HGNC:7103 MIP major intrinsic protein of lens fiber protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "MP26|LIM1|AQP0" Aquaporins 305 2001-06-22 2021-04-13 4284 ENSG00000135517 OTTHUMG00000170571 uc001slh.4 NM_012064 CCDS8919 P30301 "1840563|7536742" MGI:96990 RGD:3090 LRG_1291|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1291.xml 154050 123238 objectId:687 HGNC:7103 "ENST00000652304.1|NM_012064.4" HGNC:7103 +HGNC:7104 MIPEP mitochondrial intermediate peptidase protein-coding gene gene with protein product Approved 13q12.12 13q12.12 MIP M3 metallopeptidase family 1438 1996-10-30 2021-09-20 4285 ENSG00000027001 OTTHUMG00000016573 uc001uox.5 NM_005932 CCDS9303 Q99797 "9073519|33669127" MGI:1917728 RGD:621680 602241 470664 3.4.24.59 HGNC:7104 "ENST00000382172.4|NM_005932.4" HGNC:7104 +HGNC:39456 MIPEPP1 mitochondrial intermediate peptidase pseudogene 1 pseudogene pseudogene Approved 7q31.1 07q31.1 2011-01-17 2012-03-15 100533682 ENSG00000225358 OTTHUMG00000155189 NG_028675 PGOHUM00000232965 HGNC:39456 +HGNC:39457 MIPEPP2 mitochondrial intermediate peptidase pseudogene 2 pseudogene pseudogene Approved 1q43 01q43 2011-01-17 2011-01-17 100130099 ENSG00000224783 OTTHUMG00000039535 NG_022759 PGOHUM00000244501 HGNC:39457 +HGNC:39458 MIPEPP3 mitochondrial intermediate peptidase pseudogene 3 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-01-17 2014-11-19 650794 ENSG00000233325 OTTHUMG00000016538 NR_038939 PGOHUM00000248519 HGNC:39458 +HGNC:21460 MIPOL1 mirror-image polydactyly 1 protein-coding gene gene with protein product Approved 14q13.3-q21.1 14q13.3-q21.1 CCDC193 2003-10-02 2019-05-10 145282 ENSG00000151338 OTTHUMG00000140252 uc001wuc.4 AY059470 NM_138731 CCDS9664 Q8TD10 "11954550|19667180" MGI:1920740 RGD:6504372 606850 470666 HGNC:21460 "ENST00000684589.1|NM_001388067.1" +HGNC:31499 MIR1-1 microRNA 1-1 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-1-1 MIRN1-1 MicroRNA MIR1/206 family 1696 2004-04-23 2008-12-18 2019-01-18 406904 ENSG00000199017 uc011aak.3 NR_029780 MGI:2676869 RGD:9685084 609326 MI0000651 HGNC:31499 +HGNC:16159 MIR1-1HG MIR1-1 host gene non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 "dJ353C17.1|MIR133A2HG" MIR133A2 host gene C20orf166 chromosome 20 open reading frame 166 MicroRNA non-coding host genes 1688 2001-07-17 2014-10-02 2014-10-02 2021-03-03 128826 ENSG00000174407 OTTHUMG00000048000 AL449263 NR_171007 Q9H1L0 HGNC:16159 +HGNC:31500 MIR1-2 microRNA 1-2 non-coding RNA RNA, micro Approved 18q11.2 18q11.2 hsa-mir-1-2 MIRN1-2 MicroRNA MIR1/206 family 1696 2004-04-23 2008-12-18 2019-01-18 406905 ENSG00000284453 uc021uic.2 NR_029662 MGI:3618746 RGD:2325528 610252 MI0000437 HGNC:31500 +HGNC:31638 MIR7-1 microRNA 7-1 non-coding RNA RNA, micro Approved 9q21.32 09q21.32 hsa-mir-7-1 MIRN7-1 MicroRNA MIR7 family 1736 2004-04-23 2008-12-18 2019-01-24 407043 ENSG00000284179 uc004ano.1 NR_029605 MGI:3619436 RGD:2325464 615239 MI0000263 HGNC:31638 +HGNC:31639 MIR7-2 microRNA 7-2 non-coding RNA RNA, micro Approved 15q26.1 15q26.1 hsa-mir-7-2 MIRN7-2 MicroRNA MIR7 family 1736 2004-04-23 2008-12-18 2019-01-24 407044 ENSG00000207703 uc010upm.2 NR_029606 MGI:3619436 RGD:2325398 MI0000264 HGNC:31639 +HGNC:31640 MIR7-3 microRNA 7-3 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-7-3 MIRN7-3 MicroRNA MIR7 family 1736 2004-04-23 2008-12-18 2019-01-24 407045 ENSG00000207630 uc010xij.1 NR_029607 MGI:3619435 RGD:2325434 MI0000265 HGNC:31640 +HGNC:30049 MIR7-3HG MIR7-3 host gene non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 "PGSF1|PGSF1a|PGSF1b|Huh7|uc002mbe.2" "pituitary gland specific factor 1a|pituitary gland specific factor 1b" "C19orf30|NCRNA00306|LINC00306" "chromosome 19 open reading frame 30|non-protein coding RNA 306|long intergenic non-protein coding RNA 306|MIR7-3 host gene (non-protein coding)" MicroRNA non-coding host genes 1688 2004-04-02 2011-09-01 2015-02-20 2016-11-24 284424 ENSG00000176840 OTTHUMG00000150589 uc060rzj.1 AB058892 NR_027148 Q8N6C7 "11854097|23643933" pgsf1 MIR7-3HG HGNC:30049 +HGNC:31641 MIR9-1 microRNA 9-1 non-coding RNA RNA, micro Approved 1q22 01q22 hsa-mir-9-1 MIRN9-1 MicroRNA MIR9 family 1698 2004-04-23 2008-12-18 2019-01-24 407046 ENSG00000207933 uc057lzy.1 NR_029691 MGI:2676911 RGD:4888599 611186 MI0000466 HGNC:31641 +HGNC:30780 MIR9-1HG MIR9-1 host gene non-coding RNA RNA, long non-coding Approved 1q22 01q22 CROC4 "contingent replication of cDNA-4|transcriptional activator of the c fos promoter" C1orf61 chromosome 1 open reading frame 61 MicroRNA non-coding host genes 1688 2005-06-01 2020-04-28 2020-04-28 2020-04-28 10485 ENSG00000125462 OTTHUMG00000031022 uc001fou.2 NR_135260 Q13536 "10995546|23012322" 618747 HGNC:30780 +HGNC:31642 MIR9-2 microRNA 9-2 non-coding RNA RNA, micro Approved 5q14.3 05q14.3 hsa-mir-9-2 MIRN9-2 MicroRNA MIR9 family 1698 2004-04-23 2008-12-18 2019-01-24 407047 ENSG00000284447 uc021ybf.1 NR_030741 MGI:3619442 611187 MI0000467 HGNC:31642 +HGNC:31646 MIR9-3 microRNA 9-3 non-coding RNA RNA, micro Approved 15q26.1 15q26.1 hsa-mir-9-3 MIRN9-3 MicroRNA MIR9 family 1698 2004-04-23 2008-12-18 2019-01-24 407051 ENSG00000284329 uc002bnu.3 NR_029692 MGI:3619443 RGD:2325463 611188 MI0000468 HGNC:31646 +HGNC:27388 MIR9-3HG MIR9-3 host gene non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 LINC00925 long intergenic non-protein coding RNA 925 MicroRNA non-coding host genes 1688 2013-05-24 2015-10-09 2015-10-09 2022-03-30 254559 ENSG00000255571 OTTHUMG00000171992 NR_133001 15701730 MGI:2142071 MIR9-3HG HGNC:27388 +HGNC:31497 MIR10A microRNA 10a non-coding RNA RNA, micro Approved 17q21.32 17q21.32 hsa-mir-10a MIRN10A MicroRNA MIR10/100 family 1700 2004-04-23 2008-12-18 2019-01-24 406902 ENSG00000284038 uc002inq.3 NR_029608 MGI:3619064 RGD:2325601 610173 MI0000266 HGNC:31497 +HGNC:31498 MIR10B microRNA 10b non-coding RNA RNA, micro Approved 2q31.1 02q31.1 hsa-mir-10b MIRN10B MicroRNA MIR10/100 family 1700 2004-04-23 2008-12-18 2019-01-24 406903 ENSG00000207744 uc010zey.2 NR_029609 MGI:2676804 RGD:2325397 611576 MI0000267 HGNC:31498 +HGNC:31543 MIR15A microRNA 15a non-coding RNA RNA, micro Approved 13q14.2 13q14.2 hsa-mir-15a MIRN15A MicroRNA MIR15/16 family 1737 2004-04-23 2008-12-18 2019-01-24 406948 ENSG00000283785 uc058xbg.1 NR_029485 MGI:2676841 609703 MI0000069 HGNC:31543 +HGNC:31544 MIR15B microRNA 15b non-coding RNA RNA, micro Approved 3q25.33 03q25.33 hsa-mir-15b MIRN15B MicroRNA MIR15/16 family 1737 2004-04-23 2008-12-18 2011-09-12 406949 ENSG00000207779 uc011boz.1 NR_029663 RGD:7488977 619572 MI0000438 HGNC:31544 +HGNC:31545 MIR16-1 microRNA 16-1 non-coding RNA RNA, micro Approved 13q14.2 13q14.2 hsa-mir-16-1 MIRN16-1 MicroRNA MIR15/16 family 1737 2004-04-23 2008-12-18 2019-01-24 406950 ENSG00000208006 uc001vea.2 NR_029486 MGI:2676843 609704 MI0000070 HGNC:31545 +HGNC:31546 MIR16-2 microRNA 16-2 non-coding RNA RNA, micro Approved 3q25.33 03q25.33 hsa-mir-16-2 MIRN16-2 MicroRNA MIR15/16 family 1737 2004-04-23 2008-12-18 2019-01-24 406951 ENSG00000198987 uc003fdk.3 NR_029525 MGI:3618690 RGD:7488974 MI0000115 HGNC:31546 +HGNC:31547 MIR17 microRNA 17 non-coding RNA RNA, micro Approved 13q31.3 13q31.3 hsa-mir-17 MIRN17 MicroRNA MIR17 family 1703 2004-04-23 2008-12-18 2019-01-24 406952 ENSG00000284536 uc058xst.1 NR_029487 MGI:3619065 RGD:2325600 609416 MI0000071 HGNC:31547 +HGNC:23564 MIR17HG miR-17-92a-1 cluster host gene non-coding RNA RNA, long non-coding Approved 13q31.3 13q31.3 "FLJ14178|MIRH1|MIHG1|NCRNA00048|miR-17-92|LINC00048" "non-protein coding RNA 48|long intergenic non-protein coding RNA 48" "C13orf25|MIRHG1" "chromosome 13 open reading frame 25|microRNA host gene 1 (non-protein coding)|MIR17 host gene (non-protein coding)|miR-17-92 cluster host gene" MicroRNA non-coding host genes 1688 2004-07-28 2009-07-24 2016-03-17 2021-05-26 407975 ENSG00000215417 OTTHUMG00000017195 uc001vlq.2 AB176707 NR_027349 Q75NE6 "15126345|15944707|16266980|17210683|23551855" MGI:1923207 609415 285348 MIR17HG HGNC:23564 HGNC:23564 +HGNC:31548 MIR18A microRNA 18a non-coding RNA RNA, micro Approved 13q31.3 13q31.3 "hsa-mir-18|hsa-mir-18a" "MIRN18|MIRN18A" microRNA 18 MicroRNA MIR17 family 1703 2004-04-23 2008-12-18 2005-06-30 2019-01-24 406953 ENSG00000283815 uc058xsu.1 NR_029488 MGI:2676844 RGD:2325396 609417 MI0000072 HGNC:31548 +HGNC:32025 MIR18B microRNA 18b non-coding RNA RNA, micro Approved Xq26.2 Xq26.2 hsa-mir-18b MIRN18B MicroRNA MIR17 family 1703 2005-06-30 2008-12-18 2019-01-24 574033 ENSG00000283931 uc022cee.2 NR_029949 MGI:3718454 MI0001518 HGNC:32025 +HGNC:31574 MIR19A microRNA 19a non-coding RNA RNA, micro Approved 13q31.3 13q31.3 hsa-mir-19a MIRN19A MicroRNA MIR19 family 1704 2004-04-23 2008-12-18 2019-01-24 406979 ENSG00000284204 uc058xsv.1 NR_029489 MGI:3618743 RGD:2325462 609418 MI0000073 HGNC:31574 +HGNC:31575 MIR19B1 microRNA 19b-1 non-coding RNA RNA, micro Approved 13q31.3 13q31.3 hsa-mir-19b-1 MIRN19B1 MicroRNA MIR19 family 1704 2004-04-23 2008-12-18 2019-01-24 406980 ENSG00000284375 uc058xsx.1 NR_029490 MGI:3629917 RGD:2325433 609419 MI0000074 HGNC:31575 +HGNC:31576 MIR19B2 microRNA 19b-2 non-coding RNA RNA, micro Approved Xq26.2 Xq26.2 hsa-mir-19b-2 MIRN19B2 MicroRNA MIR19 family 1704 2004-04-23 2008-12-18 2019-01-24 406981 ENSG00000284107 uc011mvi.2 NR_029491 MGI:2676868 RGD:2325599 300722 MI0000075 HGNC:31576 +HGNC:31577 MIR20A microRNA 20a non-coding RNA RNA, micro Approved 13q31.3 13q31.3 "hsa-mir-20|hsa-mir-20a" "MIRN20|MIRN20A" microRNA 20 MicroRNA MIR17 family 1703 2004-04-23 2008-12-18 2005-06-30 2019-01-24 406982 ENSG00000283762 uc058xsw.1 NR_029492 MGI:2676872 RGD:2325401 609420 MI0000076 HGNC:31577 +HGNC:32024 MIR20B microRNA 20b non-coding RNA RNA, micro Approved Xq26.2 Xq26.2 hsa-mir-20b MIRN20B MicroRNA MIR17 family 1703 2005-06-30 2008-12-18 2019-01-24 574032 ENSG00000284043 uc022ced.1 NR_029950 MGI:3618748 RGD:2325420 300950 MI0001519 HGNC:32024 +HGNC:31586 MIR21 microRNA 21 non-coding RNA RNA, micro Approved 17q23.1 17q23.1 "hsa-mir-21|MIR-21" MIRN21 MicroRNAs 476 2004-04-23 2008-12-18 2018-08-17 406991 ENSG00000284190 uc002ixv.3 NR_029493 RGD:2325598 611020 MI0000077 HGNC:31586 +HGNC:31599 MIR22 microRNA 22 non-coding RNA RNA, micro Approved 17p13.3 17p13.3 hsa-mir-22 MIRN22 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-24 407004 ENSG00000283824 uc032gnj.2 NR_029494 20180843 MGI:2676896 RGD:2325597 612077 MI0000078 HGNC:31599 +HGNC:28219 MIR22HG MIR22 host gene non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 "MGC14376|DKFZp686O06159" C17orf91 "chromosome 17 open reading frame 91|MIR22 host gene (non-protein coding)" MicroRNA non-coding host genes 1688 2007-12-20 2011-08-31 2015-02-20 2018-08-23 84981 ENSG00000186594 OTTHUMG00000132197 uc021tnl.2 BX648321 NR_028502 Q0VDD5 "24036268|28968955|29669758" MGI:1914348 MIR22HG HGNC:28219 +HGNC:31605 MIR23A microRNA 23a non-coding RNA RNA, micro Approved 19p13.12 19p13.12 hsa-mir-23a MIRN23A MicroRNA MIR23 family 1711 2004-04-23 2008-12-18 2019-01-24 407010 ENSG00000207980 uc060ujx.1 NR_029495 MGI:2676897 RGD:2325395 607962 MI0000079 HGNC:31605 +HGNC:27620 MIR23AHG miR-23a/27a/24-2 cluster host gene non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 LOC284454 MicroRNA non-coding host genes 1688 2020-08-05 2020-08-05 284454 ENSG00000267519 OTTHUMG00000181848 NR_036515 "29227193|30380023" +HGNC:31606 MIR23B microRNA 23b non-coding RNA RNA, micro Approved 9q22.32 09q22.32 hsa-mir-23b MIRN23B MicroRNA MIR23 family 1711 2004-04-23 2008-12-18 2019-01-24 407011 ENSG00000207563 uc004avg.5 NR_029664 MGI:2676898 RGD:2325596 610723 MI0000439 HGNC:31606 +HGNC:38913 MIR23C microRNA 23c non-coding RNA RNA, micro Approved Xp22.12 Xp22.12 hsa-mir-23c MicroRNAs 476 2010-09-15 2016-11-16 100500809 ENSG00000264566 uc022btr.2 NR_037414 MI0016010 HGNC:38913 +HGNC:31607 MIR24-1 microRNA 24-1 non-coding RNA RNA, micro Approved 9q22.32 09q22.32 hsa-mir-24-1 MIRN24-1 MicroRNA MIR24 family 1738 2004-04-23 2008-12-18 2019-01-24 407012 ENSG00000284459 NR_029496 MGI:2676899 609705 MI0000080 HGNC:31607 +HGNC:31608 MIR24-2 microRNA 24-2 non-coding RNA RNA, micro Approved 19p13.12 19p13.12 hsa-mir-24-2 MIRN24-2 MicroRNA MIR24 family 1738 2004-04-23 2008-12-18 2019-01-24 407013 ENSG00000284387 uc060ujv.1 NR_029497 MGI:3618755 RGD:2325349 610724 MI0000081 HGNC:31608 +HGNC:31609 MIR25 microRNA 25 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-25 MIRN25 MicroRNA MIR25/92 family 1705 2004-04-23 2008-12-18 2019-01-24 407014 ENSG00000207547 uc003usy.1 NR_029498 MGI:3619266 RGD:2325594 612150 MI0000082 HGNC:31609 +HGNC:31610 MIR26A1 microRNA 26a-1 non-coding RNA RNA, micro Approved 3p22.2 03p22.2 hsa-mir-26a-1 MIRN26A1 MicroRNA MIR26 family 1739 2004-04-23 2008-12-18 2019-01-24 407015 ENSG00000199075 uc011ayg.2 NR_029499 MGI:2676900 RGD:2325337 612151 MI0000083 HGNC:31610 +HGNC:31611 MIR26A2 microRNA 26a-2 non-coding RNA RNA, micro Approved 12q14.1 12q14.1 hsa-mir-26a-2 MIRN26A2 MicroRNA MIR26 family 1739 2004-04-23 2008-12-18 2019-01-24 407016 ENSG00000207789 uc001sqn.2 NR_029847 MGI:3619045 613057 MI0000750 HGNC:31611 +HGNC:31612 MIR26B microRNA 26b non-coding RNA RNA, micro Approved 2q35 02q35 hsa-mir-26b MIRN26B MicroRNA MIR26 family 1739 2004-04-23 2008-12-18 2019-01-24 407017 ENSG00000199121 uc010zkd.3 NR_029500 22215805 MGI:2676901 RGD:2325394 612152 MI0000084 HGNC:31612 +HGNC:31613 MIR27A microRNA 27a non-coding RNA RNA, micro Approved 19p13.12 19p13.12 hsa-mir-27a MIRN27A MicroRNA MIR27 family 1740 2004-04-23 2008-12-18 2019-01-24 407018 ENSG00000207808 uc060ujw.1 NR_029501 MGI:2676902 RGD:2325592 612153 MI0000085 HGNC:31613 +HGNC:31614 MIR27B microRNA 27b non-coding RNA RNA, micro Approved 9q22.32 09q22.32 "hsa-mir-27b|MIR-27b" MIRN27B MicroRNA MIR27 family 1740 2004-04-23 2008-12-18 2019-01-24 407019 ENSG00000207864 uc064uma.1 NR_029665 MGI:2676903 RGD:2325593 610636 MI0000440 HGNC:31614 +HGNC:31615 MIR28 microRNA 28 non-coding RNA RNA, micro Approved 3q28 03q28 hsa-mir-28 MIRN28 MicroRNA MIR28/151 family 1803 2004-04-23 2008-12-18 2019-02-13 407020 ENSG00000207651 uc021xiq.1 NR_029502 MGI:3619267 RGD:2325461 612154 MI0000086 HGNC:31615 +HGNC:31616 MIR29A microRNA 29a non-coding RNA RNA, micro Approved 7q32.3 07q32.3 "hsa-mir-29|hsa-mir-29a" "MIRN29|MIRN29A" microRNA 29 MicroRNA MIR29 family 1701 2004-04-23 2008-12-18 2004-07-22 2019-01-24 407021 ENSG00000284032 uc011kpj.3 NR_029503 MGI:2676904 610782 MI0000087 HGNC:31616 +HGNC:31619 MIR29B1 microRNA 29b-1 non-coding RNA RNA, micro Approved 7q32.3 07q32.3 hsa-mir-29b-1 MIRN29B1 MicroRNA MIR29 family 1701 2004-04-23 2008-12-18 2019-01-24 407024 ENSG00000283797 uc003vqm.1 NR_029517 MGI:2676905 RGD:2325591 610783 MI0000105 HGNC:31619 +HGNC:31620 MIR29B2 microRNA 29b-2 non-coding RNA RNA, micro Approved 1q32.2 01q32.2 hsa-mir-29b-2 MIRN29B2 MicroRNA MIR29 family 1701 2004-04-23 2008-12-18 2019-01-24 407025 ENSG00000284203 uc057pas.1 NR_029518 MGI:3619047 RGD:2314889 619035 MI0000107 HGNC:31620 +HGNC:32018 MIR29B2CHG MIR29B2 and MIR29C host gene non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 FLJ35650 C1orf132 chromosome 1 open reading frame 132 MicroRNA non-coding host genes 1688 2005-06-30 2017-11-20 2017-11-20 2020-06-15 100128537 ENSG00000203709 OTTHUMG00000036553 uc021pik.4 AK092969 NR_135298 14702039 HGNC:32018 +HGNC:31621 MIR29C microRNA 29c non-coding RNA RNA, micro Approved 1q32.2 01q32.2 hsa-mir-29c MIRN29C MicroRNA MIR29 family 1701 2004-04-23 2008-12-18 2019-01-24 407026 ENSG00000284214 uc057par.1 NR_029832 MGI:2676906 610784 MI0000735 HGNC:31621 +HGNC:31624 MIR30A microRNA 30a non-coding RNA RNA, micro Approved 6q13 06q13 hsa-mir-30a MIRN30A MicroRNA MIR30 family 1741 2004-04-23 2008-12-18 2019-01-24 407029 ENSG00000207827 uc003pfy.1 NR_029504 MGI:2676907 RGD:2325588 612329 MI0000088 HGNC:31624 +HGNC:31625 MIR30B microRNA 30b non-coding RNA RNA, micro Approved 8q24.22 08q24.22 hsa-mir-30b MIRN30B MicroRNA MIR30 family 1741 2004-04-23 2008-12-18 2019-01-24 407030 ENSG00000207582 uc011ljk.2 NR_029666 MGI:2676908 RGD:2325392 619018 MI0000441 HGNC:31625 +HGNC:31626 MIR30C1 microRNA 30c-1 non-coding RNA RNA, micro Approved 1p34.2 01p34.2 hsa-mir-30c-1 MIRN30C1 MicroRNA MIR30 family 1741 2004-04-23 2008-12-18 2019-01-24 407031 ENSG00000207962 uc001cgg.3 NR_029833 MGI:2676909 RGD:2325590 615151 MI0000736 HGNC:31626 +HGNC:31627 MIR30C2 microRNA 30c-2 non-coding RNA RNA, micro Approved 6q13 06q13 hsa-mir-30c-2 MIRN30C2 MicroRNA MIR30 family 1741 2004-04-23 2008-12-18 2019-01-24 407032 ENSG00000199094 uc011dya.3 NR_029598 MGI:3619048 RGD:2325587 MI0000254 HGNC:31627 +HGNC:31628 MIR30D microRNA 30d non-coding RNA RNA, micro Approved 8q24.22 08q24.22 hsa-mir-30d MIRN30D MicroRNA MIR30 family 1741 2004-04-23 2008-12-18 2019-01-24 407033 ENSG00000199153 uc011ljl.1 NR_029599 MGI:2676910 RGD:2325589 619019 MI0000255 HGNC:31628 +HGNC:56081 MIR30DHG MIR30D and MIR30B host gene non-coding RNA RNA, long non-coding Approved 8q24.22 08q24.22 MicroRNA non-coding host genes 1688 2021-12-17 2021-12-17 102723694 ENSG00000259820 +HGNC:31629 MIR30E microRNA 30e non-coding RNA RNA, micro Approved 1p34.2 01p34.2 hsa-mir-30e MIRN30E MicroRNA MIR30 family 1741 2004-04-23 2008-12-18 2019-01-24 407034 ENSG00000198974 uc001cgf.3 NR_029846 MGI:3619329 RGD:2325460 619105 MI0000749 HGNC:31629 +HGNC:31630 MIR31 microRNA 31 non-coding RNA RNA, micro Approved 9p21.3 09p21.3 hsa-mir-31 MIRN31 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-30 407035 ENSG00000199177 uc011lnj.2 NR_029505 MGI:3619330 RGD:2325391 612155 MI0000089 HGNC:31630 +HGNC:37187 MIR31HG MIR31 host gene non-coding RNA RNA, long non-coding Approved 9p21.3 09p21.3 "LOC554202|hsa-lnc-31|LncHIFCAR" long noncoding HIF-1α co-activating RNA MIR31 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2011-09-01 2015-02-20 2018-04-18 554202 ENSG00000171889 OTTHUMG00000019681 uc003zpe.3 AK124391 NR_027054 "15364902|22289355|24631686|25512605" 616356 lnc-31 MIR31HG HGNC:37187 +HGNC:31631 MIR32 microRNA 32 non-coding RNA RNA, micro Approved 9q31.3 09q31.3 hsa-mir-32 MIRN32 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-30 407036 ENSG00000207698 uc004bdu.1 NR_029506 MGI:3619331 RGD:2325586 609355 MI0000090 HGNC:31631 +HGNC:31634 MIR33A microRNA 33a non-coding RNA RNA, micro Approved 22q13.2 22q13.2 "hsa-mir-33|hsa-mir-33a" "MIRN33|MIRN33A" microRNA 33 MicroRNA MIR33 family 1742 2004-04-23 2008-12-18 2007-10-23 2019-01-24 407039 ENSG00000207932 uc011api.1 NR_029507 MGI:3619343 RGD:2325408 612156 MI0000091 HGNC:31634 +HGNC:32791 MIR33B microRNA 33b non-coding RNA RNA, micro Approved 17p11.2 17p11.2 hsa-mir-33b MIRN33B MicroRNA MIR33 family 1742 2006-05-16 2008-12-18 2014-11-19 693120 ENSG00000207839 uc021trh.1 NR_030361 613486 MI0003646 HGNC:32791 +HGNC:31635 MIR34A microRNA 34a non-coding RNA RNA, micro Approved 1p36.22 01p36.22 hsa-mir-34a MIRN34A MicroRNA MIR34/449 family 1702 2004-04-23 2008-12-18 2019-01-24 407040 ENSG00000284357 uc021ofw.1 NR_029610 MGI:3619363 RGD:2325584 611172 MI0000268 HGNC:31635 +HGNC:51913 MIR34AHG MIR34A host gene non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 MicroRNA non-coding host genes 1688 2015-10-01 2016-11-08 106614088 ENSG00000228526 OTTHUMG00000001762 EF592573 NR_132742 17540599 HGNC:51913 +HGNC:31636 MIR34B microRNA 34b non-coding RNA RNA, micro Approved 11q23.1 11q23.1 hsa-mir-34b MIRN34B MicroRNA MIR34/449 family 1702 2004-04-23 2008-12-18 2019-01-24 407041 ENSG00000207811 uc001plm.3 NR_029839 MGI:3619364 RGD:2325432 611374 MI0000742 HGNC:31636 +HGNC:55987 MIR34BHG MIR34B and MIR34C host gene non-coding RNA RNA, long non-coding Approved 11q23.1 11q23.1 MicroRNA non-coding host genes 1688 2021-11-15 2021-11-15 728196 ENSG00000286028 NR_147706 +HGNC:31637 MIR34C microRNA 34c non-coding RNA RNA, micro Approved 11q23.1 11q23.1 hsa-mir-34c MIRN34C MicroRNA MIR34/449 family 1702 2004-04-23 2008-12-18 2019-01-24 407042 ENSG00000207562 uc021qqj.2 NR_029840 MGI:3619365 RGD:2325585 611375 MI0000743 HGNC:31637 +HGNC:31643 MIR92A1 microRNA 92a-1 non-coding RNA RNA, micro Approved 13q31.3 13q31.3 "hsa-mir-92-1|hsa-mir-92a-1" "MIRN92-1|MIRN92A1" microRNA 92-1 MicroRNA MIR25/92 family 1705 2004-04-23 2008-12-18 2007-10-23 2019-01-24 407048 ENSG00000283705 uc058xsy.1 NR_029508 MGI:3629918 RGD:2325390 609422 MI0000093 HGNC:31643 +HGNC:31644 MIR92A2 microRNA 92a-2 non-coding RNA RNA, micro Approved Xq26.2 Xq26.2 "hsa-mir-92-2|hsa-mir-92a-2" "MIRN92-2|MIRN92A2" microRNA 92-2 MicroRNA MIR25/92 family 1705 2004-04-23 2008-12-18 2007-10-23 2019-01-24 407049 ENSG00000284538 uc004exf.3 NR_029509 MGI:3619438 RGD:2325583 MI0000094 HGNC:31644 +HGNC:32920 MIR92B microRNA 92b non-coding RNA RNA, micro Approved 1q22 01q22 hsa-mir-92b MIRN92B MicroRNA MIR25/92 family 1705 2006-05-16 2008-12-18 2019-01-24 693235 ENSG00000284586 uc021pas.2 NR_030281 MGI:3718577 RGD:2325488 MI0003560 HGNC:32920 +HGNC:31645 MIR93 microRNA 93 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-93 MIRN93 MicroRNA MIR17 family 1703 2004-04-23 2008-12-18 2019-01-24 407050 ENSG00000207757 uc003usz.1 NR_029510 MGI:3619439 RGD:2325459 612984 MI0000095 HGNC:31645 +HGNC:31647 MIR95 microRNA 95 non-coding RNA RNA, micro Approved 4p16.1 04p16.1 hsa-mir-95 MIRN95 MicroRNA MIR95 family 1767 2004-04-23 2008-12-18 2019-01-31 407052 ENSG00000207807 uc032tbq.1 NR_029511 24145350 613185 MI0000097 HGNC:31647 +HGNC:31648 MIR96 microRNA 96 non-coding RNA RNA, micro Approved 7q32.2 07q32.2 hsa-mir-96 "MIRN96|DFNA50" deafness, autosomal dominant 50 MicroRNAs 476 2004-04-23 2008-12-18 2021-10-15 407053 ENSG00000199158 uc003vpc.4 NR_029512 "14757864|19363479" MGI:3619440 RGD:2325582 611606 MI0000098 189333 HGNC:31648 HGNC:31648 +HGNC:31649 MIR98 microRNA 98 non-coding RNA RNA, micro Approved Xp11.22 Xp11.22 "hsa-mir-98|MIRLET7L" microRNA let-7l MIRN98 MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 407054 ENSG00000271886 uc004dsr.2 NR_029513 MGI:3619441 RGD:2325581 300810 MI0000100 HGNC:31649 +HGNC:31650 MIR99A microRNA 99a non-coding RNA RNA, micro Approved 21q21.1 21q21.1 hsa-mir-99a MIRN99A MicroRNA MIR10/100 family 1700 2004-04-23 2008-12-18 2019-01-24 407055 ENSG00000207638 uc002ykd.1 NR_029514 MGI:2676912 RGD:2325580 614509 MI0000101 HGNC:31650 +HGNC:1274 MIR99AHG mir-99a-let-7c cluster host gene non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 "MONC|DILA1" "megakaryocytic oncogenic non-coding RNA|Cyclin D1-interacting long noncoding RNA 1" "C21orf35|FLJ38295|C21orf34|LINC00478" "chromosome 21 open reading frame 35|chromosome 21 open reading frame 34|long intergenic non-protein coding RNA 478|mir-99a-let-7c cluster host gene (non-protein coding)" MicroRNA non-coding host genes 1688 2000-05-23 2014-07-30 2015-02-20 2022-03-23 388815 ENSG00000215386 OTTHUMG00000074377 AF486622 NR_027790 "12036298|25027842" 615964 MIR99AHG HGNC:1274 +HGNC:31651 MIR99B microRNA 99b non-coding RNA RNA, micro Approved 19q13.41 19q13.41 hsa-mir-99b MIRN99B MicroRNA MIR10/100 family 1700 2004-04-23 2008-12-18 2019-01-24 407056 ENSG00000207550 uc002pxh.1 NR_029843 MGI:2676913 RGD:2325431 614510 MI0000746 HGNC:31651 +HGNC:31487 MIR100 microRNA 100 non-coding RNA RNA, micro Approved 11q24.1 11q24.1 hsa-mir-100 MIRN100 MicroRNA MIR10/100 family 1700 2004-04-23 2008-12-18 2019-01-24 406892 ENSG00000207994 uc001pyh.1 NR_029515 MGI:3619057 RGD:2325389 613186 MI0000102 HGNC:31487 +HGNC:39522 MIR100HG mir-100-let-7a-2-mir-125b-1 cluster host gene non-coding RNA RNA, long non-coding Approved 11q24.1 11q24.1 "AGD1|lncRNA-N2|linc-NeD125" "adipogenesis down-regulated transcript 1|lncRNA neuronal 2|neuronal differentiation lncRNA hosting miR-125" "mir-100-let-7a-2 cluster host gene (non-protein coding)|mir-100-let-7a-2 cluster host gene" MicroRNA non-coding host genes 1688 2011-02-14 2017-04-27 2018-08-24 399959 ENSG00000255248 OTTHUMG00000166035 uc009zbb.2 AK091713 NR_024430 "19531736|21031016|25027842|29748571" MGI:1920394 615965 MIR100HG HGNC:39522 +HGNC:31488 MIR101-1 microRNA 101-1 non-coding RNA RNA, micro Approved 1p31.3 01p31.3 hsa-mir-101-1 MIRN101-1 MicroRNA MIR101 family 1753 2004-04-23 2008-12-18 2019-01-30 406893 ENSG00000199135 uc001dbx.3 NR_029516 MGI:2676803 RGD:2325348 612511 MI0000103 HGNC:31488 +HGNC:31489 MIR101-2 microRNA 101-2 non-coding RNA RNA, micro Approved 9p24.1 09p24.1 hsa-mir-101-2 MIRN101-2 MicroRNA MIR101 family 1753 2004-04-23 2008-12-18 2019-01-30 406894 ENSG00000199065 uc003ziu.2 NR_029836 MGI:3618696 RGD:2325609 612512 MI0000739 HGNC:31489 +HGNC:31490 MIR103A1 microRNA 103a-1 non-coding RNA RNA, micro Approved 5q34 05q34 "hsa-mir-103-1|hsa-mir-103a-1" "MIRN103-1|MIR103-1" microRNA 103-1 MicroRNA MIR103/107 family 1754 2004-04-23 2011-05-06 2011-05-06 2019-01-30 406895 ENSG00000199035 uc003maa.3 NR_029520 MGI:3619058 RGD:2325579 613187 MI0000109 HGNC:31490 +HGNC:31491 MIR103A2 microRNA 103a-2 non-coding RNA RNA, micro Approved 20p13 20p13 "hsa-mir-103-2|hsa-mir-103a-2" "MIRN103-2|MIR103-2" microRNA 103-2 MicroRNA MIR103/107 family 1754 2004-04-23 2011-05-06 2011-05-06 2019-01-30 406896 ENSG00000199024 uc002wkg.3 NR_029519 MGI:3619059 RGD:7489028 613188 MI0000108 HGNC:31491 +HGNC:35384 MIR103B1 microRNA 103b-1 non-coding RNA RNA, micro Approved 5q34 05q34 "hsa-mir-103-1-as|hsa-mir-103b-1" "MIRN103-1AS|MIR103-1AS" microRNA 103-1-as MicroRNA MIR103/107 family 1754 2008-11-03 2011-05-06 2011-05-06 2019-01-30 100302238 ENSG00000283612 NR_031721 18524951 MI0007261 HGNC:35384 +HGNC:35385 MIR103B2 microRNA 103b-2 non-coding RNA RNA, micro Approved 20p13 20p13 "hsa-mir-103-2-as|hsa-mir-103b-2" "MIRN103-2AS|MIR103-2AS" microRNA 103-2-as MicroRNA MIR103/107 family 1754 2008-11-03 2011-05-06 2011-05-06 2019-01-30 100302282 ENSG00000283320 NR_031722 MI0007262 HGNC:35385 +HGNC:31492 MIR105-1 microRNA 105-1 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-105-1 MIRN105-1 MicroRNA MIR105 family 1766 2004-04-23 2008-12-18 2019-01-30 406897 ENSG00000207957 uc004ffo.3 NR_029521 MGI:3718453 300811 MI0000111 HGNC:31492 +HGNC:31493 MIR105-2 microRNA 105-2 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-105-2 MIRN105-2 MicroRNA MIR105 family 1766 2004-04-23 2008-12-18 2019-01-30 406898 ENSG00000207818 uc011myf.2 NR_029522 MGI:3718453 RGD:2325340 300812 MI0000112 HGNC:31493 +HGNC:31494 MIR106A microRNA 106a non-coding RNA RNA, micro Approved Xq26.2 Xq26.2 hsa-mir-106a MIRN106A MicroRNA MIR17 family 1703 2004-04-23 2008-12-18 2019-01-24 406899 ENSG00000284157 uc004exg.1 NR_029523 MGI:3619120 RGD:2325506 300792 MI0000113 HGNC:31494 +HGNC:31495 MIR106B microRNA 106b non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-106b MIRN106B MicroRNA MIR17 family 1703 2004-04-23 2008-12-18 2019-01-24 406900 ENSG00000208036 uc003uta.1 NR_029831 MGI:3619060 RGD:2325388 612983 MI0000734 HGNC:31495 +HGNC:31496 MIR107 microRNA 107 non-coding RNA RNA, micro Approved 10q23.31 10q23.31 hsa-mir-107 MIRN107 MicroRNA MIR103/107 family 1754 2004-04-23 2008-12-18 2019-01-30 406901 ENSG00000198997 uc001kgq.3 NR_029524 MGI:3619063 RGD:2325578 613189 MI0000114 HGNC:31496 +HGNC:31501 MIR122 microRNA 122 non-coding RNA RNA, micro Approved 18q21.31 18q21.31 "hsa-mir-122a|hsa-mir-122|miR-122" "MIRN122A|MIRN122" microRNA 122a MicroRNAs 476 2004-04-23 2008-12-18 2007-10-23 2019-01-31 406906 ENSG00000284440 uc060poy.1 NR_029667 17179747 MGI:2676805 RGD:2325577 609582 MI0000442 HGNC:31501 +HGNC:53821 MIR122HG MIR122 host gene non-coding RNA RNA, long non-coding Approved 18q21.31 18q21.31 lnc-pri-miR-122 MicroRNA non-coding host genes 1688 2018-02-28 2018-12-12 112441433 ENSG00000267391 OTTHUMG00000179967 NR_170243 25730776 +HGNC:31502 MIR124-1 microRNA 124-1 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 "hsa-mir-124a-1|hsa-mir-124-1" "MIRN124A1|MIRN124-1" microRNA 124a-1 MicroRNA MIR124 family 1706 2004-04-23 2008-12-18 2007-10-23 2019-01-30 406907 ENSG00000284321 uc003wsw.1 NR_029668 MGI:2676807 RGD:2325336 609327 MI0000443 HGNC:31502 +HGNC:27231 MIR124-1HG MIR124-1 host gene non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 "Rncr3|neuroLNC" "retinal non-coding RNA 3|neuron-specific nuclear lncRNA" LINC00599 long intergenic non-protein coding RNA 599 MicroRNA non-coding host genes 1688 2012-05-01 2020-01-09 2020-01-09 2020-01-09 157627 ENSG00000253230 OTTHUMG00000163734 uc064kea.1 AF052108 NR_024281 "8619474|9110174|27253412|31897430" MGI:2442197 rncr3 LINC00599 HGNC:27231 +HGNC:31503 MIR124-2 microRNA 124-2 non-coding RNA RNA, micro Approved 8q12.3 08q12.3 "hsa-mir-124a-2|hsa-mir-124-2" "MIRN124A2|MIRN124-2" microRNA 124a-2 MicroRNA MIR124 family 1706 2004-04-23 2008-12-18 2007-10-23 2019-01-30 406908 ENSG00000207816 uc003xvf.3 NR_029669 MGI:3618700 RGD:2325576 MI0000444 HGNC:31503 +HGNC:48723 MIR124-2HG MIR124-2 host gene non-coding RNA RNA, long non-coding Approved 8q12.3 08q12.3 LINC00966 "long intergenic non-protein coding RNA 966|MIR124-2 host gene (non-protein coding)" MicroRNA non-coding host genes 1688 2013-06-07 2014-04-17 2015-02-20 2015-02-20 100130155 ENSG00000254377 OTTHUMG00000164360 NR_109792 MIR124-2HG HGNC:48723 +HGNC:31504 MIR124-3 microRNA 124-3 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 "hsa-mir-124a-3|hsa-mir-124-3" "MIRN124A3|MIRN124-3" microRNA 124a-3 MicroRNA MIR124 family 1706 2004-04-23 2008-12-18 2007-10-23 2019-01-30 406909 ENSG00000207598 uc002yeg.1 NR_029670 MGI:3618704 RGD:2325458 MI0000445 HGNC:31504 +HGNC:31505 MIR125A microRNA 125a non-coding RNA RNA, micro Approved 19q13.41 19q13.41 hsa-mir-125a MIRN125A MicroRNA MIR10/100 family 1700 2004-04-23 2008-12-18 2019-01-24 406910 ENSG00000208008 uc002pxj.1 NR_029693 MGI:2676809 RGD:2325387 611191 MI0000469 HGNC:31505 +HGNC:31506 MIR125B1 microRNA 125b-1 non-coding RNA RNA, micro Approved 11q24.1 11q24.1 hsa-mir-125b-1 MIRN125B1 MicroRNA MIR10/100 family 1700 2004-04-23 2008-12-18 2019-01-24 406911 ENSG00000207971 uc010rzr.1 NR_029671 MGI:2676810 RGD:2325457 610104 MI0000446 HGNC:31506 +HGNC:31507 MIR125B2 microRNA 125b-2 non-coding RNA RNA, micro Approved 21q21.1 21q21.1 hsa-mir-125b-2 MIRN125B2 MicroRNA MIR10/100 family 1700 2004-04-23 2008-12-18 2019-01-24 406912 ENSG00000207863 uc002ykf.3 NR_029694 MGI:3618706 RGD:2325575 610105 MI0000470 HGNC:31507 +HGNC:31508 MIR126 microRNA 126 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-126 MIRN126 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406913 ENSG00000199161 uc022bps.1 NR_029695 18694565 MGI:2676811 RGD:2325386 611767 MI0000471 HGNC:31508 +HGNC:31509 MIR127 microRNA 127 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-127 MIRN127 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406914 ENSG00000207608 uc001yig.4 NR_029696 16766263 MGI:2676812 RGD:2325430 611709 MI0000472 HGNC:31509 +HGNC:31510 MIR128-1 microRNA 128-1 non-coding RNA RNA, micro Approved 2q21.3 02q21.3 "hsa-mir-128a|hsa-mir-128-1|mir-128-1" "MIRN128A|MIRN128-1" microRNA 128a MicroRNA MIR128 family 1712 2004-04-23 2008-12-18 2008-01-07 2019-01-30 406915 ENSG00000207654 uc010zbi.2 NR_029672 MGI:2676813 RGD:2325574 611774 MI0000447 HGNC:31510 +HGNC:31511 MIR128-2 microRNA 128-2 non-coding RNA RNA, micro Approved 3p22.3 03p22.3 "hsa-mir-128b|hsa-mir-128-2" "MIRN128B|MIRN128-2" microRNA 128b MicroRNA MIR128 family 1712 2004-04-23 2008-12-18 2008-01-07 2019-01-30 406916 ENSG00000207625 uc011axz.1 NR_029824 23019226 MGI:3618709 RGD:7489034 611769 MI0000727 HGNC:31511 +HGNC:31512 MIR129-1 microRNA 129-1 non-coding RNA RNA, micro Approved 7q32.1 07q32.1 hsa-mir-129-1 MIRN129-1 MicroRNA MIR129 family 1756 2004-04-23 2008-12-18 2019-01-30 406917 ENSG00000207705 uc011koi.3 NR_029596 MGI:2676815 RGD:2325456 MI0000252 HGNC:31512 +HGNC:31513 MIR129-2 microRNA 129-2 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-129-2 MIRN129-2 MicroRNA MIR129 family 1756 2004-04-23 2008-12-18 2019-01-30 406918 ENSG00000199077 uc001mxo.2 NR_029697 MGI:3618711 RGD:2325612 MI0000473 HGNC:31513 +HGNC:31514 MIR130A microRNA 130a non-coding RNA RNA, micro Approved 11q12.1 11q12.1 hsa-mir-130a MIRN130A MicroRNA MIR130 family 1713 2004-04-23 2008-12-18 2019-01-30 406919 ENSG00000208009 uc001nku.1 NR_029673 MGI:2676816 RGD:2325385 610175 MI0000448 HGNC:31514 +HGNC:55966 MIR130AHG MIR130A host gene non-coding RNA RNA, long non-coding Approved 11q12.1 11q12.1 MicroRNA non-coding host genes 1688 2021-11-11 2021-11-11 123466203 ENSG00000254602 +HGNC:31515 MIR130B microRNA 130b non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-130b MIRN130B MicroRNA MIR130 family 1713 2004-04-23 2008-12-18 2019-01-30 406920 ENSG00000283871 uc011aii.1 NR_029845 MGI:3618716 RGD:2325573 613682 MI0000748 HGNC:31515 +HGNC:31516 MIR132 microRNA 132 non-coding RNA RNA, micro Approved 17p13.3 17p13.3 hsa-mir-132 MIRN132 MicroRNA MIR132/212 family 1714 2004-04-23 2008-12-18 2019-01-18 406921 ENSG00000267200 uc010vqt.1 NR_029674 MGI:2676817 RGD:2325572 610016 MI0000449 HGNC:31516 +HGNC:31517 MIR133A1 microRNA 133a-1 non-coding RNA RNA, micro Approved 18q11.2 18q11.2 hsa-mir-133a-1 MIRN133A1 MicroRNA MIR133 family 1708 2004-04-23 2008-12-18 2019-01-30 406922 ENSG00000283927 uc021uib.1 NR_029675 MGI:2676818 RGD:2325571 610254 MI0000450 HGNC:31517 +HGNC:49594 MIR133A1HG MIR133A1 host gene non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 MIR1-2HG MIR1-2 host gene (non-protein coding) MIR133A1 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2014-01-21 2015-02-20 2018-04-09 102723167 ENSG00000265142 OTTHUMG00000179284 BX648566 NR_110369 MIR133A1HG HGNC:49594 +HGNC:31518 MIR133A2 microRNA 133a-2 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-133a-2 MIRN133A2 MicroRNA MIR133 family 1708 2004-04-23 2008-12-18 2019-01-30 406923 ENSG00000284508 uc011aal.1 NR_029676 MGI:3618718 610255 MI0000451 HGNC:31518 +HGNC:31759 MIR133B microRNA 133b non-coding RNA RNA, micro Approved 6p12.2 06p12.2 hsa-mir-133b MIRN133B MicroRNA MIR133 family 1708 2004-07-22 2008-12-18 2019-01-30 442890 ENSG00000199080 uc010jzo.3 NR_029903 MGI:3618720 RGD:2325527 610946 MI0000822 HGNC:31759 +HGNC:31519 MIR134 microRNA 134 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-134 MIRN134 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406924 ENSG00000207993 uc010txo.1 NR_029698 MGI:2676819 RGD:2325429 610164 MI0000474 HGNC:31519 +HGNC:31520 MIR135A1 microRNA 135a-1 non-coding RNA RNA, micro Approved 3p21.2 03p21.2 "hsa-mir-135-1|hsa-mir-135a-1" "MIRN135-1|MIRN135A1" microRNA 135-1 MicroRNA MIR135 family 1757 2004-04-23 2008-12-18 2004-07-21 2019-01-30 406925 ENSG00000207926 uc010hmf.3 NR_029677 MGI:2676820 MI0000452 HGNC:31520 +HGNC:31521 MIR135A2 microRNA 135a-2 non-coding RNA RNA, micro Approved 12q23.1 12q23.1 "hsa-mir-135-2|hsa-mir-135a-2" "MIRN135-2|MIRN135A2" microRNA 135-2 MicroRNA MIR135 family 1757 2004-04-23 2008-12-18 2004-07-21 2019-01-30 406926 ENSG00000207586 uc001tfb.3 NR_029678 MGI:3618729 RGD:2325347 MI0000453 HGNC:31521 +HGNC:31760 MIR135B microRNA 135b non-coding RNA RNA, micro Approved 1q32.1 01q32.1 hsa-mir-135b MIRN135B MicroRNA MIR135 family 1757 2004-07-22 2008-12-18 2019-01-30 442891 ENSG00000199059 uc010prh.2 NR_029893 MGI:3618732 RGD:2325610 619560 MI0000810 HGNC:31760 +HGNC:31522 MIR136 microRNA 136 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-136 MIRN136 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406927 ENSG00000207942 uc010txk.2 NR_029699 22967897 MGI:2676821 RGD:2325384 611710 MI0000475 HGNC:31522 +HGNC:31523 MIR137 microRNA 137 non-coding RNA RNA, micro Approved 1p21.3 01p21.3 "hsa-mir-137|miR-137" MIRN137 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-30 406928 ENSG00000284202 uc021oqk.1 NR_029679 MGI:2676822 RGD:2325570 614304 MI0000454 HGNC:31523 +HGNC:42871 MIR137HG MIR137 host gene non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 MIR137 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2011-09-02 2015-02-20 2022-03-30 400765 ENSG00000225206 OTTHUMG00000010680 uc001drx.3 AK094607 NR_046105 MGI:5477365 MIR137HG HGNC:42871 +HGNC:31524 MIR138-1 microRNA 138-1 non-coding RNA RNA, micro Approved 3p21.32 03p21.32 hsa-mir-138-1 MIRN138-1 MicroRNA MIR138 family 1758 2004-04-23 2008-12-18 2019-01-30 406929 ENSG00000207954 uc011azu.1 NR_029700 MGI:2676823 RGD:2325568 613394 MI0000476 HGNC:31524 +HGNC:31525 MIR138-2 microRNA 138-2 non-coding RNA RNA, micro Approved 16q13 16q13 hsa-mir-138-2 MIRN138-2 MicroRNA MIR138 family 1758 2004-04-23 2008-12-18 2019-01-30 406930 ENSG00000207649 uc002ekc.4 NR_029680 MGI:3618733 RGD:2325569 613395 MI0000455 HGNC:31525 +HGNC:31526 MIR139 microRNA 139 non-coding RNA RNA, micro Approved 11q13.4 11q13.4 hsa-mir-139 MIRN139 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406931 ENSG00000272036 uc001osp.1 NR_029603 25778535 MGI:2676824 RGD:2325383 615017 MI0000261 HGNC:31526 +HGNC:31527 MIR140 microRNA 140 non-coding RNA RNA, micro Approved 16q22.1 16q22.1 "hsa-mir-140|MIR-140" MIRN140 MicroRNAs 476 2004-04-23 2008-12-18 2021-10-15 406932 ENSG00000208017 uc002exx.2 NR_029681 "18945805|30804514" MGI:2676825 RGD:2325351 611894 MI0000456 HGNC:31527 HGNC:31527 +HGNC:31528 MIR141 microRNA 141 non-coding RNA RNA, micro Approved 12p13.31 12p13.31 hsa-mir-141 MIRN141 MicroRNA MIR141/200 family 1709 2004-04-23 2008-12-18 2019-01-24 406933 ENSG00000207708 uc009zfm.2 NR_029682 MGI:2676826 RGD:2325407 612093 MI0000457 HGNC:31528 +HGNC:31529 MIR142 microRNA 142 non-coding RNA RNA, micro Approved 17q22 17q22 hsa-mir-142 MIRN142 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-30 406934 ENSG00000284353 uc060hxw.1 NR_029683 24401604 MGI:2676827 RGD:2325567 615657 MI0000458 HGNC:31529 +HGNC:55980 MIR142HG MIR142 host genes non-coding RNA RNA, long non-coding Approved 17q22 17q22 MicroRNA non-coding host genes 1688 2021-11-12 2021-11-12 123466215 ENSG00000265206 +HGNC:31530 MIR143 microRNA 143 non-coding RNA RNA, micro Approved 5q32 05q32 hsa-mir-143 MIRN143 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406935 ENSG00000284182 uc021yfo.4 NR_029684 15504739 MGI:2676828 RGD:2325566 612117 MI0000459 HGNC:31530 +HGNC:31531 MIR144 microRNA 144 non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-144 MIRN144 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406936 ENSG00000283819 uc060dfs.1 NR_029685 18941117 MGI:2676829 RGD:2325428 612070 MI0000460 HGNC:31531 +HGNC:31532 MIR145 microRNA 145 non-coding RNA RNA, micro Approved 5q32 05q32 "hsa-mir-145|MIR-145" MIRN145 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406937 ENSG00000276365 uc063iom.1 NR_029686 19578358 MGI:2676830 RGD:2325565 611795 MI0000461 HGNC:31532 +HGNC:31533 MIR146A microRNA 146a non-coding RNA RNA, micro Approved 5q33.3 05q33.3 "hsa-mir-146|hsa-mir-146a" "MIRN146|MIRN146A" microRNA 146 MicroRNA MIR146 family 1716 2004-04-23 2008-12-18 2005-06-30 2019-01-30 406938 ENSG00000283733 uc021yhe.1 NR_029701 MGI:2676831 RGD:2325382 610566 MI0000477 HGNC:31533 +HGNC:32079 MIR146B microRNA 146b non-coding RNA RNA, micro Approved 10q24.32 10q24.32 hsa-mir-146b MIRN146B MicroRNA MIR146 family 1716 2005-07-15 2008-12-18 2019-01-30 574447 ENSG00000202569 uc021pxj.2 NR_030169 MGI:3629945 RGD:2314885 610567 MI0003129 HGNC:32079 +HGNC:31534 MIR147A microRNA 147a non-coding RNA RNA, micro Approved 9q33.2 09q33.2 hsa-mir-147 "MIRN147|MIR147" microRNA 147 MicroRNA MIR147 family 1768 2004-04-23 2011-11-14 2011-11-14 2011-11-14 406939 ENSG00000207814 uc011lxv.1 NR_029604 MI0000262 HGNC:31534 +HGNC:33655 MIR147B microRNA 147b non-coding RNA RNA, micro Approved 15q21.1 15q21.1 hsa-mir-147b MIRN147B MicroRNA MIR147 family 1768 2007-10-24 2008-12-18 2019-01-31 100126311 ENSG00000284386 uc021skp.1 NR_030599 MGI:2676832 RGD:2325507 MI0005544 HGNC:33655 +HGNC:31535 MIR148A microRNA 148a non-coding RNA RNA, micro Approved 7p15.2 07p15.2 "hsa-mir-148|hsa-mir-148a" "MIRN148|MIRN148A" microRNA 148 MicroRNA MIR148/152 family 1717 2004-04-23 2008-12-18 2004-07-21 2019-01-30 406940 ENSG00000199085 uc011jzf.3 NR_029597 MGI:2676833 RGD:9685082 613786 MI0000253 HGNC:31535 +HGNC:31761 MIR148B microRNA 148b non-coding RNA RNA, micro Approved 12q13.13 12q13.13 hsa-mir-148b MIRN148B MicroRNA MIR148/152 family 1717 2004-07-22 2008-12-18 2019-01-30 442892 ENSG00000199122 uc010sou.3 NR_029894 MGI:3618734 RGD:2325617 613787 MI0000811 HGNC:31761 +HGNC:31536 MIR149 microRNA 149 non-coding RNA RNA, micro Approved 2q37.3 02q37.3 hsa-mir-149 MIRN149 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406941 ENSG00000207611 uc010zog.2 NR_029702 23298478 MGI:2676834 615209 MI0000478 HGNC:31536 +HGNC:31537 MIR150 microRNA 150 non-coding RNA RNA, micro Approved 19q13.33 19q13.33 hsa-mir-150 MIRN150 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406942 ENSG00000207782 uc010yaw.2 NR_029703 23159943 MGI:2676835 RGD:2325455 611114 MI0000479 HGNC:31537 +HGNC:31762 MIR151A microRNA 151a non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-151 "MIRN151|MIR151" microRNA 151 MicroRNA MIR28/151 family 1803 2004-07-22 2011-11-14 2011-11-14 2019-02-13 442893 ENSG00000254324 OTTHUMG00000164277 uc022bbw.3 NR_029892 MGI:2676836 RGD:2325400 MI0000809 HGNC:31762 +HGNC:41588 MIR151B microRNA 151b non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-151b MicroRNA MIR28/151 family 1803 2011-05-02 2016-11-16 100616247 ENSG00000265154 uc032blj.1 NR_039601 RGD:4888536 MI0003772 HGNC:41588 +HGNC:31538 MIR152 microRNA 152 non-coding RNA RNA, micro Approved 17q21.32 17q21.32 hsa-mir-152 MIRN152 MicroRNA MIR148/152 family 1717 2004-04-23 2008-12-18 2019-01-30 406943 ENSG00000207947 uc010wld.2 NR_029687 MGI:2676837 RGD:2325564 613788 MI0000462 HGNC:31538 +HGNC:31539 MIR153-1 microRNA 153-1 non-coding RNA RNA, micro Approved 2q35 02q35 hsa-mir-153-1 MIRN153-1 MicroRNA MIR153 family 1759 2004-04-23 2008-12-18 2011-09-12 406944 ENSG00000207647 uc010zld.1 NR_029688 MI0000463 HGNC:31539 +HGNC:31540 MIR153-2 microRNA 153-2 non-coding RNA RNA, micro Approved 7q36.3 07q36.3 hsa-mir-153-2 MIRN153-2 MicroRNA MIR153 family 1759 2004-04-23 2008-12-18 2019-01-30 406945 ENSG00000207960 uc011kwb.1 NR_029689 MGI:2676838 RGD:2325563 MI0000464 HGNC:31540 +HGNC:31541 MIR154 microRNA 154 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-154 MIRN154 MicroRNA MIR154 family 1769 2004-04-23 2008-12-18 2019-01-31 406946 ENSG00000207978 uc010awg.3 NR_029704 MGI:2676839 RGD:2325562 MI0000480 HGNC:31541 +HGNC:31542 MIR155 microRNA 155 non-coding RNA RNA, micro Approved 21q21.3 21q21.3 hsa-mir-155 MIRN155 MicroRNAs 476 2004-04-23 2008-12-18 2020-04-21 406947 ENSG00000283904 uc021why.1 AP000223 NR_030784 18055230 MGI:2676840 RGD:7489038 609337 MI0000681 HGNC:31542 +HGNC:35460 MIR155HG MIR155 host gene non-coding RNA RNA, long non-coding Approved 21q21.3 21q21.3 "BIC|NCRNA00172|miPEP155" "B-cell receptor inducible|BIC transcript|non-protein coding RNA 172" MIRHG2 "microRNA host gene 2 (non-protein coding)|MIR155 host gene (non-protein coding)" MicroRNA non-coding host genes 1688 2009-02-17 2009-07-24 2015-02-20 2021-02-08 114614 ENSG00000234883 OTTHUMG00000078367 uc002ylm.5 AF402776 NR_001458 "21296997|23246696" MGI:5477161 RGD:10045371 MIR155HG HGNC:35460 +HGNC:31590 MIR181A1 microRNA 181a-1 non-coding RNA RNA, micro Approved 1q32.1 01q32.1 hsa-mir-213 "MIRN213|MIRN181A1" microRNA 213 MicroRNA MIR181 family 1718 2004-04-23 2008-12-18 2006-05-16 2019-02-13 406995 ENSG00000207759 uc001guy.3 NR_029626 MGI:3629589 612742 MI0000289 HGNC:31590 +HGNC:48659 MIR181A1HG MIR181A1 host gene non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 familial acute myelogenous leukemia related factor MIR181A1 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2013-06-03 2015-02-20 2015-02-20 100131234 ENSG00000229989 OTTHUMG00000035888 NR_040073 HGNC:48659 +HGNC:31549 MIR181A2 microRNA 181a-2 non-coding RNA RNA, micro Approved 9q33.3 09q33.3 hsa-mir-181a "MIRN181A|MIRN181A2" microRNA 181a MicroRNA MIR181 family 1718 2004-04-23 2008-12-18 2006-05-16 2019-01-18 406954 ENSG00000207595 uc004bot.3 NR_029611 MGI:2676845 RGD:2325335 612743 MI0000269 HGNC:31549 +HGNC:37188 MIR181A2HG MIR181A2 host gene non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 MIR181A2 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2009-08-18 2015-02-20 2015-02-20 100379345 ENSG00000224020 OTTHUMG00000020657 uc064vqh.1 NR_038975 15364906 MIR181A2HG HGNC:37188 +HGNC:31550 MIR181B1 microRNA 181b-1 non-coding RNA RNA, micro Approved 1q32.1 01q32.1 hsa-mir-181b-1 MIRN181B1 MicroRNA MIR181 family 1718 2004-04-23 2008-12-18 2019-01-18 406955 ENSG00000207975 uc001gux.1 NR_029612 MGI:3618735 RGD:2325561 612744 MI0000270 HGNC:31550 +HGNC:31551 MIR181B2 microRNA 181b-2 non-coding RNA RNA, micro Approved 9q33.3 09q33.3 hsa-mir-181b-2 MIRN181B2 MicroRNA MIR181 family 1718 2004-04-23 2008-12-18 2019-01-18 406956 ENSG00000207737 uc004bou.3 NR_029782 MGI:3618736 RGD:2325454 612745 MI0000683 HGNC:31551 +HGNC:31552 MIR181C microRNA 181c non-coding RNA RNA, micro Approved 19p13.12 19p13.12 hsa-mir-181c MIRN181C MicroRNA MIR181 family 1718 2004-04-23 2008-12-18 2019-01-18 406957 ENSG00000207613 uc010xnh.2 NR_029613 MGI:3618737 RGD:2325381 612746 MI0000271 HGNC:31552 +HGNC:32089 MIR181D microRNA 181d non-coding RNA RNA, micro Approved 19p13.12 19p13.12 hsa-mir-181d MIRN181D MicroRNA MIR181 family 1718 2005-07-15 2008-12-18 2019-01-18 574457 ENSG00000207585 uc010dzg.2 NR_030179 MGI:3709847 RGD:2325361 MI0003139 HGNC:32089 +HGNC:31553 MIR182 microRNA 182 non-coding RNA RNA, micro Approved 7q32.2 07q32.2 "hsa-mir-182|miR-182" MIRN182 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-18 406958 ENSG00000207990 uc011kpb.2 NR_029614 19188590 MGI:2676846 611607 MI0000272 470668 HGNC:31553 +HGNC:31554 MIR183 microRNA 183 non-coding RNA RNA, micro Approved 7q32.2 07q32.2 hsa-mir-183 MIRN183 MicroRNAs 476 2004-04-23 2008-12-18 2019-02-13 406959 ENSG00000207691 uc003vpd.2 NR_029615 MGI:2676847 RGD:2325560 611608 MI0000273 470670 HGNC:31554 +HGNC:31555 MIR184 microRNA 184 non-coding RNA RNA, micro Approved 15q25.1 15q25.1 hsa-mir-184 MIRN184 MicroRNAs 476 2004-04-23 2008-12-18 2021-05-26 406960 ENSG00000207695 uc010uni.2 NR_029705 MGI:2676848 RGD:2325559 613146 MI0000481 299169 HGNC:31555 HGNC:31555 +HGNC:31556 MIR185 microRNA 185 non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-185 MIRN185 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406961 ENSG00000208023 uc011ahj.3 NR_029706 MGI:2676849 RGD:2325380 615576 MI0000482 HGNC:31556 +HGNC:31557 MIR186 microRNA 186 non-coding RNA RNA, micro Approved 1p31.1 01p31.1 hsa-mir-186 MIRN186 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406962 ENSG00000207721 uc010oqr.1 NR_029707 MGI:2676850 RGD:2325558 MI0000483 HGNC:31557 +HGNC:31558 MIR187 microRNA 187 non-coding RNA RNA, micro Approved 18q12.2 18q12.2 hsa-mir-187 MIRN187 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406963 ENSG00000207797 uc010dmv.2 NR_029616 MGI:2676851 RGD:2325557 612698 MI0000274 HGNC:31558 +HGNC:31559 MIR188 microRNA 188 non-coding RNA RNA, micro Approved Xp11.23 Xp11.23 hsa-mir-188 MIRN188 MicroRNA MIR188/532 family 1805 2004-04-23 2008-12-18 2019-01-31 406964 ENSG00000207768 uc011mnv.2 NR_029708 MGI:2676852 RGD:2325505 MI0000484 HGNC:31559 +HGNC:31560 MIR190A microRNA 190a non-coding RNA RNA, micro Approved 15q22.2 15q22.2 hsa-mir-190 "MIRN190|MIR190" microRNA 190 MicroRNA MIR190 family 1760 2004-04-23 2011-11-14 2011-11-14 2019-01-30 406965 ENSG00000211137 uc010uid.1 NR_029709 MGI:2676854 RGD:2325453 615845 MI0000486 HGNC:31560 +HGNC:33656 MIR190B microRNA 190b non-coding RNA RNA, micro Approved 1q21.3 01q21.3 hsa-mir-190b MIRN190B MicroRNA MIR190 family 1760 2007-10-24 2008-12-18 2019-02-13 100126346 ENSG00000215938 uc021pac.2 NR_030600 MGI:3718457 RGD:2325504 MI0005545 HGNC:33656 +HGNC:31561 MIR191 microRNA 191 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-191 MIRN191 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-18 406966 ENSG00000207605 uc003cvo.2 NR_029690 24795757 MGI:2676855 RGD:2325556 615150 MI0000465 HGNC:31561 +HGNC:31562 MIR192 microRNA 192 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-192 MIRN192 MicroRNA MIR192/215 family 1719 2004-04-23 2008-12-18 2019-01-18 406967 ENSG00000283926 uc058dbg.1 NR_029578 MGI:2676856 RGD:2325427 610939 MI0000234 HGNC:31562 +HGNC:31563 MIR193A microRNA 193a non-coding RNA RNA, micro Approved 17q11.2 17q11.2 "hsa-mir-193|hsa-mir-193a" "MIRN193|MIRN193A" microRNA 193 MicroRNA MIR193 family 1761 2004-04-23 2008-12-18 2005-06-30 2019-01-30 406968 ENSG00000207614 uc010wbv.1 NR_029710 MGI:2676857 RGD:4888546 614733 MI0000487 HGNC:31563 +HGNC:32087 MIR193B microRNA 193b non-coding RNA RNA, micro Approved 16p13.12 16p13.12 hsa-mir-193b MIRN193B MicroRNA MIR193 family 1761 2005-07-15 2008-12-18 2019-01-30 574455 ENSG00000207639 uc021tdg.1 NR_030177 MGI:3718458 RGD:9685090 614734 MI0003137 HGNC:32087 +HGNC:51945 MIR193BHG MIR193b-365a host gene non-coding RNA RNA, long non-coding Approved 16p13.12 16p13.12 lincNORS linc noncoding oxygen-sensitive regulator of sterol homeostasis MIR193B host gene MicroRNA non-coding host genes 1688 2015-10-08 2020-11-09 2020-11-09 100129781 ENSG00000262454 OTTHUMG00000177423 NR_132983 32958772 MIR193BHG HGNC:51945 +HGNC:31564 MIR194-1 microRNA 194-1 non-coding RNA RNA, micro Approved 1q41 01q41 hsa-mir-194-1 MIRN194-1 MicroRNA MIR194 family 1720 2004-04-23 2008-12-18 2019-01-18 406969 ENSG00000207624 uc010puj.2 NR_029711 MGI:2676858 RGD:2325555 610940 MI0000488 HGNC:31564 +HGNC:31565 MIR194-2 microRNA 194-2 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-194-2 MIRN194-2 MicroRNA MIR194 family 1720 2004-04-23 2008-12-18 2019-01-18 406970 ENSG00000284155 uc010rns.1 NR_029829 MGI:3618738 RGD:2325554 610941 MI0000732 HGNC:31565 +HGNC:51946 MIR194-2HG MIR194-2 host gene non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 MicroRNA non-coding host genes 1688 2015-10-08 2015-10-08 105369343 ENSG00000229719 OTTHUMG00000066834 NR_133638 MIR194-2HG HGNC:51946 +HGNC:31566 MIR195 microRNA 195 non-coding RNA RNA, micro Approved 17p13.1 17p13.1 hsa-mir-195 MIRN195 MicroRNA MIR15/16 family 1737 2004-04-23 2008-12-18 2019-02-13 406971 ENSG00000284112 uc060ahh.1 NR_029712 MGI:2676859 RGD:2325346 610718 MI0000489 HGNC:31566 +HGNC:31567 MIR196A1 microRNA 196a-1 non-coding RNA RNA, micro Approved 17q21.32 17q21.32 "hsa-mir-196-1|hsa-mir-196a-1" "MIRN196-1|MIRN196A1" "microRNA 196-1|microRNA 196a" MicroRNA MIR196 family 1721 2004-04-23 2008-12-18 2008-01-07 2019-01-18 406972 ENSG00000210741 uc010wln.1 NR_029582 MGI:2676860 RGD:2325418 608632 MI0000238 HGNC:31567 +HGNC:31568 MIR196A2 microRNA 196a-2 non-coding RNA RNA, micro Approved 12q13.13 12q13.13 "hsa-mir-196-2|hsa-mir-196a-2" "MIRN196-2|MIRN196A2" microRNA 196-2 MicroRNA MIR196 family 1721 2004-04-23 2008-12-18 2004-07-22 2019-01-18 406973 ENSG00000207924 uc001seo.3 NR_029617 MGI:3618739 RGD:2314888 609687 MI0000279 HGNC:31568 +HGNC:31790 MIR196B microRNA 196b non-coding RNA RNA, micro Approved 7p15.2 07p15.2 hsa-mir-196b MIRN196B MicroRNA MIR196 family 1721 2004-07-22 2008-12-18 2019-01-18 442920 ENSG00000283745 uc064cgz.1 NR_029911 MGI:3618741 RGD:2314882 609688 MI0001150 HGNC:31790 +HGNC:31569 MIR197 microRNA 197 non-coding RNA RNA, micro Approved 1p13.3 01p13.3 hsa-mir-197 MIRN197 MicroRNAs 476 2004-04-23 2008-12-18 2018-08-17 406974 ENSG00000284443 uc010ovq.1 NR_029583 611189 MI0000239 HGNC:31569 +HGNC:31570 MIR198 microRNA 198 non-coding RNA RNA, micro Approved 3q13.33 03q13.33 hsa-mir-198 MIRN198 MicroRNAs 476 2004-04-23 2008-12-18 2019-02-13 406975 ENSG00000284121 NR_029584 MI0000240 HGNC:31570 +HGNC:31571 MIR199A1 microRNA 199a-1 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-199a-1 MIRN199A1 MicroRNA MIR199 family 1722 2004-04-23 2008-12-18 2019-01-18 406976 ENSG00000207752 uc010xlj.1 NR_029586 MGI:2676863 610719 MI0000242 HGNC:31571 +HGNC:31572 MIR199A2 microRNA 199a-2 non-coding RNA RNA, micro Approved 1q24.3 01q24.3 hsa-mir-199a-2 MIRN199A2 MicroRNA MIR199 family 1722 2004-04-23 2008-12-18 2019-01-18 406977 ENSG00000208024 uc057nid.1 NR_029618 MGI:3618742 RGD:2325378 610720 MI0000281 HGNC:31572 +HGNC:31573 MIR199B microRNA 199b non-coding RNA RNA, micro Approved 9q34.11 09q34.11 hsa-mir-199b MIRN199B MicroRNA MIR199 family 1722 2004-04-23 2008-12-18 2019-01-18 406978 ENSG00000207581 uc004bue.1 NR_029619 MGI:2676865 614791 MI0000282 HGNC:31573 +HGNC:31578 MIR200A microRNA 200a non-coding RNA RNA, micro Approved 1p36.33 01p36.33 hsa-mir-200a MIRN200A MicroRNA MIR141/200 family 1709 2004-04-23 2008-12-18 2019-01-24 406983 ENSG00000207607 uc010nye.2 NR_029834 MGI:2676874 RGD:2325426 612090 MI0000737 HGNC:31578 +HGNC:31579 MIR200B microRNA 200b non-coding RNA RNA, micro Approved 1p36.33 01p36.33 hsa-mir-200b MIRN200B MicroRNA MIR141/200 family 1709 2004-04-23 2008-12-18 2019-01-24 406984 ENSG00000207730 uc001acw.3 NR_029639 MGI:2676875 RGD:2325552 612091 MI0000342 HGNC:31579 +HGNC:31580 MIR200C microRNA 200c non-coding RNA RNA, micro Approved 12p13.31 12p13.31 hsa-mir-200c MIRN200C MicroRNA MIR141/200 family 1709 2004-04-23 2008-12-18 2019-01-24 406985 ENSG00000207713 uc001qsc.2 NR_029779 MGI:3618750 RGD:2325553 612092 MI0000650 HGNC:31580 +HGNC:53161 MIR200CHG MIR200C and MIR141 host gene non-coding RNA RNA, long non-coding Approved 12p13.31 12p13.31 U47924.27 MicroRNA non-coding host genes 1688 2017-03-03 2017-03-03 105369635 ENSG00000257084 OTTHUMG00000169234 NR_135032 28225791 HGNC:53161 +HGNC:32080 MIR202 microRNA 202 non-coding RNA RNA, micro Approved 10q26.3 10q26.3 hsa-mir-202 MIRN202 MicroRNAs 476 2005-07-15 2008-12-18 2019-01-31 574448 ENSG00000284219 uc009ybh.2 NR_030170 MGI:2676877 RGD:2325486 MI0003130 HGNC:32080 +HGNC:49402 MIR202HG MIR202 host gene non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 MIR202 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2013-10-28 2015-02-20 2015-02-20 101927671 ENSG00000166917 OTTHUMG00000170605 DB447466 NR_108078 MIR202HG HGNC:49402 +HGNC:31581 MIR203A microRNA 203a non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-203 "MIRN203|MIR203" microRNA 203 MicroRNA MIR203 family 1723 2004-04-23 2014-03-17 2014-03-17 2019-01-18 406986 ENSG00000207568 NR_029620 MGI:2676878 611899 MI0000283 HGNC:31581 +HGNC:41811 MIR203B microRNA 203b non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-3545 MIR3545 microRNA 3545 MicroRNA MIR203 family 1723 2011-05-02 2014-03-17 2014-03-17 2019-01-18 100616173 ENSG00000283165 NR_039859 MGI:2676878 RGD:4888612 MI0017343 HGNC:41811 +HGNC:31582 MIR204 microRNA 204 non-coding RNA RNA, micro Approved 9q21.12 09q21.12 hsa-mir-204 MIRN204 MicroRNA MIR204/211 family 1724 2004-04-23 2008-12-18 2021-10-15 406987 ENSG00000207935 uc004aih.2 NR_029621 26056285 MGI:2676879 RGD:2325551 610942 MI0000284 HGNC:31582 +HGNC:31583 MIR205 microRNA 205 non-coding RNA RNA, micro Approved 1q32.2 01q32.2 hsa-mir-205 MIRN205 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-18 406988 ENSG00000284485 uc010psk.2 NR_029622 18376396 MGI:2676880 RGD:2325377 613147 MI0000285 HGNC:31583 +HGNC:43562 MIR205HG MIR205 host gene non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 LINC00510 long intergenic non-protein coding RNA 510 MIR205 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2011-11-07 2015-02-20 2018-08-24 642587 ENSG00000230937 OTTHUMG00000036267 uc057pbj.1 NR_145435 29556360 MGI:1918050 MIR205HG HGNC:43562 +HGNC:31584 MIR206 microRNA 206 non-coding RNA RNA, micro Approved 6p12.2 06p12.2 hsa-mir-206 MIRN206 MicroRNA MIR1/206 family 1696 2004-04-23 2008-12-18 2019-01-18 406989 ENSG00000207604 uc003paj.2 NR_029713 MGI:2676881 RGD:2325550 611599 MI0000490 HGNC:31584 +HGNC:31585 MIR208A microRNA 208a non-coding RNA RNA, micro Approved 14q11.2 14q11.2 "hsa-mir-208|hsa-mir-208a" "MIRN208|MIRN208A" microRNA 208 MicroRNA MIR208 family 1725 2004-04-23 2008-12-18 2008-01-07 2019-01-18 406990 ENSG00000199157 uc010tnn.3 NR_029595 MGI:2676883 RGD:7489029 611116 MI0000251 HGNC:31585 +HGNC:33669 MIR208B microRNA 208b non-coding RNA RNA, micro Approved 14q11.2 14q11.2 hsa-mir-208b MIRN208B MicroRNA MIR208 family 1725 2007-10-24 2008-12-18 2019-01-18 100126336 ENSG00000215991 uc021rqy.1 NR_030624 MGI:3718461 RGD:4888543 613613 MI0005570 HGNC:33669 +HGNC:31587 MIR210 microRNA 210 non-coding RNA RNA, micro Approved 11p15.5 11p15.5 hsa-mir-210 MIRN210 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 406992 ENSG00000199038 OTTHUMG00000186068 uc010qwa.1 NR_029623 24608041 MGI:2676886 RGD:2314887 612982 MI0000286 HGNC:31587 +HGNC:39524 MIR210HG MIR210 host gene non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 MIR210 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2011-02-14 2015-02-20 2017-01-06 100506211 ENSG00000247095 OTTHUMG00000165284 uc009yby.3 NR_038262 "26400545|27980086|27673330" MIR210HG HGNC:39524 +HGNC:31588 MIR211 microRNA 211 non-coding RNA RNA, micro Approved 15q13.3 15q13.3 hsa-mir-211 MIRN211 MicroRNA MIR204/211 family 1724 2004-04-23 2008-12-18 2019-01-18 406993 ENSG00000207702 uc010ubm.1 NR_029624 MGI:2676887 RGD:2325549 613753 MI0000287 HGNC:31588 +HGNC:31589 MIR212 microRNA 212 non-coding RNA RNA, micro Approved 17p13.3 17p13.3 hsa-mir-212 MIRN212 MicroRNA MIR132/212 family 1714 2004-04-23 2008-12-18 2019-01-18 406994 ENSG00000267195 OTTHUMG00000180186 uc010vqu.1 NR_029625 MGI:2676888 RGD:2325376 613487 MI0000288 HGNC:31589 +HGNC:31591 MIR214 microRNA 214 non-coding RNA RNA, micro Approved 1q24.3 01q24.3 hsa-mir-214 MIRN214 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-18 406996 ENSG00000283844 uc021pev.3 NR_029627 23223004 MGI:2676890 610721 MI0000290 HGNC:31591 +HGNC:31592 MIR215 microRNA 215 non-coding RNA RNA, micro Approved 1q41 01q41 hsa-mir-215 MIRN215 MicroRNA MIR192/215 family 1719 2004-04-23 2008-12-18 2019-01-18 406997 ENSG00000207590 uc010pui.2 NR_029628 MGI:2676891 610943 MI0000291 HGNC:31592 +HGNC:31593 MIR216A microRNA 216a non-coding RNA RNA, micro Approved 2p16.1 02p16.1 "hsa-mir-216|hsa-mir-216a" "MIRN216|MIRN216A" microRNA 216 MicroRNA MIR216 family 1763 2004-04-23 2008-12-18 2007-10-23 2019-01-30 406998 ENSG00000207798 uc010ype.1 NR_029629 MGI:2676892 RGD:2325406 610944 MI0000292 HGNC:31593 +HGNC:33668 MIR216B microRNA 216b non-coding RNA RNA, micro Approved 2p16.1 02p16.1 hsa-mir-216b MIRN216B MicroRNA MIR216 family 1763 2007-10-24 2008-12-18 2019-01-30 100126319 ENSG00000211520 uc021vhx.1 NR_030623 MGI:3640613 RGD:4888592 MI0005569 HGNC:33668 +HGNC:31594 MIR217 microRNA 217 non-coding RNA RNA, micro Approved 2p16.1 02p16.1 "hsa-mir-217|miR-217" MIRN217 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-30 406999 ENSG00000207548 uc010ypd.2 NR_029630 MGI:2676893 RGD:2325547 615096 MI0000293 HGNC:31594 +HGNC:50537 MIR217HG MIR217 host gene non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 "MIR216AHG|MIR216BHG" MIR217 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2014-05-20 2015-02-20 2015-02-20 104355290 ENSG00000226702 OTTHUMG00000152029 DA732292 NR_126406 MIR217HG HGNC:50537 +HGNC:31595 MIR218-1 microRNA 218-1 non-coding RNA RNA, micro Approved 4p15.31 04p15.31 hsa-mir-218-1 MIRN218-1 MicroRNA MIR218 family 1726 2004-04-23 2008-12-18 2019-01-18 407000 ENSG00000207732 uc011bxl.2 NR_029631 MGI:3618751 616770 MI0000294 HGNC:31595 +HGNC:31596 MIR218-2 microRNA 218-2 non-coding RNA RNA, micro Approved 5q34 05q34 hsa-mir-218-2 MIRN218-2 MicroRNA MIR218 family 1726 2004-04-23 2008-12-18 2019-01-18 407001 ENSG00000207739 uc010jjh.3 NR_029632 MGI:3618752 RGD:2325546 616771 MI0000295 HGNC:31596 +HGNC:31597 MIR219A1 microRNA 219a-1 non-coding RNA RNA, micro Approved 6p21.32 06p21.32 hsa-mir-219-1 "MIRN219-1|MIR219-1" microRNA 219-1 MicroRNA MIR219 family 1710 2004-04-23 2014-03-17 2014-03-17 2019-01-30 407002 ENSG00000199036 NR_029633 MGI:3618753 RGD:2325545 611500 MI0000296 HGNC:31597 +HGNC:31598 MIR219A2 microRNA 219a-2 non-coding RNA RNA, micro Approved 9q34.11 09q34.11 hsa-mir-219-2 "MIRN219-2|MIR219-2" microRNA 219-2 MicroRNA MIR219 family 1710 2004-04-23 2014-03-17 2014-03-17 2019-01-30 407003 ENSG00000284185 NR_029837 MGI:3618754 MI0000740 HGNC:31598 +HGNC:55938 MIR219A2HG MIR219A2 host gene non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 MicroRNA non-coding host genes 1688 2021-11-10 2021-11-10 123464509 ENSG00000207955 +HGNC:41823 MIR219B microRNA 219b non-coding RNA RNA, micro Approved 9q34.11 09q34.11 hsa-mir-2964a MIR2964A microRNA 2964a MicroRNA MIR219 family 1710 2011-05-02 2014-03-17 2014-03-17 2019-01-30 100616335 ENSG00000283335 NR_039815 MGI:5562756 RGD:4888575 MI0017299 HGNC:41823 +HGNC:31601 MIR221 microRNA 221 non-coding RNA RNA, micro Approved Xp11.3 Xp11.3 hsa-mir-221 MIRN221 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-30 407006 ENSG00000207870 uc011mle.1 NR_029635 MGI:3619066 RGD:2325451 300568 MI0000298 HGNC:31601 +HGNC:31602 MIR222 microRNA 222 non-coding RNA RNA, micro Approved Xp11.3 Xp11.3 hsa-mir-222 MIRN222 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-30 407007 ENSG00000207725 uc011mlf.2 NR_029636 MGI:3619118 RGD:2325544 300569 MI0000299 HGNC:31602 +HGNC:49555 MIR222HG miR222/221 cluster host gene non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 Lnc-Ang362 "MIR222 host gene (non-protein coding)|MIR222 host gene" MicroRNA non-coding host genes 1688 2014-01-14 2018-08-24 2021-12-01 104457406 ENSG00000270069 OTTHUMG00000184015 NR_170290 23697773 MIR222HG +HGNC:31603 MIR223 microRNA 223 non-coding RNA RNA, micro Approved Xq12 Xq12 hsa-mir-223 MIRN223 MicroRNAs 476 2004-04-23 2008-12-18 2019-09-18 407008 ENSG00000284567 uc022byg.1 NR_029637 "23489116|21213211" MGI:2684360 RGD:2325543 300694 MI0000300 HGNC:31603 +HGNC:54520 MIR223HG MIR223 host gene non-coding RNA RNA, long non-coding Approved Xq12 Xq12 linc-223 MicroRNA non-coding host genes 1688 2019-09-18 2019-09-18 115891964 ENSG00000274536 NR_170299 27517498 +HGNC:31604 MIR224 microRNA 224 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-224 MIRN224 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-18 407009 ENSG00000284363 uc033fab.1 NR_029638 MGI:3619129 RGD:2325530 300769 MI0000301 HGNC:31604 +HGNC:31617 MIR296 microRNA 296 non-coding RNA RNA, micro Approved 20q13.32 20q13.32 hsa-mir-296 MIRN296 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-30 407022 ENSG00000284040 uc002xzr.1 NR_029844 MGI:3619269 RGD:2325345 610945 MI0000747 HGNC:31617 +HGNC:33691 MIR297 microRNA 297 non-coding RNA RNA, micro Approved 4q25 04q25 hsa-mir-297 MIRN297 MicroRNAs 476 2007-10-25 2008-12-18 2019-02-13 100126354 ENSG00000215961 uc032tty.1 NR_030643 615520 MI0005775 HGNC:33691 +HGNC:33634 MIR298 microRNA 298 non-coding RNA RNA, micro Approved 20q13.32 20q13.32 hsa-mir-298 MIRN298 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-13 100126296 ENSG00000216031 uc021wfk.1 NR_030580 MGI:3619321 RGD:2325373 614914 MI0005523 HGNC:33634 +HGNC:31618 MIR299 microRNA 299 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-299 MIRN299 MicroRNAs 476 2004-04-23 2008-12-18 2019-01-31 407023 ENSG00000207749 uc001yjx.2 NR_029841 26617714 MGI:3619322 RGD:4888603 MI0000744 HGNC:31618 +HGNC:33636 MIR300 microRNA 300 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-300 MIRN300 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-19 100126297 ENSG00000215957 uc021sdc.2 NR_030582 RGD:2325424 MI0005525 HGNC:33636 +HGNC:31622 MIR301A microRNA 301a non-coding RNA RNA, micro Approved 17q22 17q22 "hsa-mir-301|hsa-mir-301a" "MIRN301|MIRN301A" microRNA 301 MicroRNA MIR130 family 1713 2004-04-23 2008-12-18 2008-01-07 2019-01-30 407027 ENSG00000207996 uc010wod.1 NR_029842 MGI:3619324 RGD:2325405 615675 MI0000745 HGNC:31622 +HGNC:33667 MIR301B microRNA 301b non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-301b MIRN301B MicroRNA MIR130 family 1713 2007-10-24 2008-12-18 2019-01-30 100126318 ENSG00000212102 uc021wmk.1 NR_030622 MGI:3691602 RGD:2325503 MI0005568 HGNC:33667 +HGNC:31623 MIR302A microRNA 302a non-coding RNA RNA, micro Approved 4q25 04q25 "hsa-mir-302|hsa-mir-302a" "MIRN302|MIRN302A" microRNA 302 MicroRNA MIR302 family 1764 2004-04-23 2008-12-18 2004-07-21 2019-01-30 407028 ENSG00000207927 uc062zcr.1 NR_029835 MGI:3619325 614596 MI0000738 HGNC:31623 +HGNC:31763 MIR302B microRNA 302b non-coding RNA RNA, micro Approved 4q25 04q25 hsa-mir-302b MIRN302B MicroRNA MIR302 family 1764 2004-07-22 2008-12-18 2019-01-30 442894 ENSG00000284463 uc062zct.1 NR_029857 MGI:3619326 614597 MI0000772 HGNC:31763 +HGNC:31764 MIR302C microRNA 302c non-coding RNA RNA, micro Approved 4q25 04q25 hsa-mir-302c MIRN302C MicroRNA MIR302 family 1764 2004-07-22 2008-12-18 2019-01-30 442895 ENSG00000199102 uc062zcs.1 NR_029858 MGI:3619327 614598 MI0000773 HGNC:31764 +HGNC:41070 MIR302CHG miR-302/367 cluster host gene non-coding RNA RNA, long non-coding Approved 4q25 04q25 MicroRNA non-coding host genes 1688 2018-11-04 2018-11-04 109864269 ENSG00000249532 OTTHUMG00000161565 NR_146092 HGNC:41070 +HGNC:31765 MIR302D microRNA 302d non-coding RNA RNA, micro Approved 4q25 04q25 hsa-mir-302d MIRN302D MicroRNA MIR302 family 1764 2004-07-22 2008-12-18 2019-01-30 442896 ENSG00000199145 uc062zcq.1 NR_029859 MGI:3619328 614599 MI0000774 HGNC:31765 +HGNC:35348 MIR302E microRNA 302e non-coding RNA RNA, micro Approved 11p15.4 11p15.4 hsa-mir-302e MIRN302E MicroRNAs 476 2008-11-03 2008-12-18 2014-11-19 100313774 ENSG00000221703 uc031xes.1 NR_031683 MI0006417 HGNC:35348 +HGNC:35349 MIR302F microRNA 302f non-coding RNA RNA, micro Approved 18q12.1 18q12.1 hsa-mir-302f MIRN302F MicroRNA MIR302 family 1764 2008-11-03 2008-12-18 2014-11-18 100302131 ENSG00000283218 NR_031684 MI0006418 HGNC:35349 +HGNC:31632 MIR320A microRNA 320a non-coding RNA RNA, micro Approved 8p21.3 08p21.3 hsa-mir-320 "MIRN320|MIRN320A" microRNA 320 MicroRNA MIR320 family 1804 2004-04-23 2008-12-18 2008-10-27 2019-02-13 407037 ENSG00000208037 uc011kzd.1 NR_029714 MGI:3619332 RGD:2325539 614112 MI0000542 HGNC:31632 +HGNC:35247 MIR320B1 microRNA 320b-1 non-coding RNA RNA, micro Approved 1p13.1 01p13.1 hsa-mir-320b-1 MIRN320B1 MicroRNA MIR320 family 1804 2008-11-03 2008-12-18 2014-11-19 100302117 ENSG00000211543 uc021osk.1 NR_031564 MI0003776 HGNC:35247 +HGNC:35256 MIR320B2 microRNA 320b-2 non-coding RNA RNA, micro Approved 1q42.11 01q42.11 hsa-mir-320b-2 MIRN320B2 MicroRNA MIR320 family 1804 2008-11-03 2008-12-18 2014-11-18 100313769 ENSG00000221406 uc021pjo.1 NR_031574 MI0003839 HGNC:35256 +HGNC:35248 MIR320C1 microRNA 320c-1 non-coding RNA RNA, micro Approved 18q11.2 18q11.2 hsa-mir-320c-1 MIRN320C1 MicroRNA MIR320 family 1804 2008-11-03 2008-12-18 2014-11-19 100302135 ENSG00000221493 uc021uia.1 NR_031565 MI0003778 HGNC:35248 +HGNC:35387 MIR320C2 microRNA 320c-2 non-coding RNA RNA, micro Approved 18q11.2 18q11.2 hsa-mir-320c-2 MIRN320C2 MicroRNA MIR320 family 1804 2008-11-03 2008-12-18 2014-11-19 100302195 ENSG00000212051 uc021uih.1 NR_031724 MI0008191 HGNC:35387 +HGNC:35386 MIR320D1 microRNA 320d-1 non-coding RNA RNA, micro Approved 13q14.11 13q14.11 hsa-mir-320d-1 MIRN320D1 MicroRNA MIR320 family 1804 2008-11-03 2008-12-18 2014-11-18 100313896 ENSG00000211491 uc021rip.1 NR_031723 MI0008190 HGNC:35386 +HGNC:35388 MIR320D2 microRNA 320d-2 non-coding RNA RNA, micro Approved Xq27.1 Xq27.1 hsa-mir-320d-2 MIRN320D2 MicroRNA MIR320 family 1804 2008-11-03 2008-12-18 2014-11-19 100302169 ENSG00000221081 uc022cfg.1 NR_031725 MI0008192 HGNC:35388 +HGNC:38230 MIR320E microRNA 320e non-coding RNA RNA, micro Approved 19q13.32 19q13.32 hsa-mir-320e MicroRNA MIR320 family 1804 2010-04-30 2014-11-19 100422913 ENSG00000211513 uc021uwi.2 NR_036157 MI0014234 HGNC:38230 +HGNC:31766 MIR323A microRNA 323a non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-323 "MIRN323|MIR323" microRNA 323 MicroRNA MIR154 family 1769 2004-07-22 2011-11-14 2011-11-14 2019-01-31 442897 ENSG00000199069 uc001yjy.2 NR_029890 MGI:3619334 RGD:2325625 MI0000807 HGNC:31766 +HGNC:38349 MIR323B microRNA 323b non-coding RNA RNA, micro Approved 14q32.31 14q32.31 "hsa-mir-323b|hsa-mir-453" "MIR453|MIRN453" microRNA 453 MicroRNA MIR154 family 1769 2010-04-30 2020-04-20 574410 ENSG00000208004 uc021sdn.1 NR_029969 MI0014206 HGNC:38349 +HGNC:31767 MIR324 microRNA 324 non-coding RNA RNA, micro Approved 17p13.1 17p13.1 hsa-mir-324 MIRN324 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442898 ENSG00000199053 uc002gey.3 NR_029896 MGI:3619335 RGD:2325436 MI0000813 HGNC:31767 +HGNC:31768 MIR325 microRNA 325 non-coding RNA RNA, micro Approved Xq21.1 Xq21.1 hsa-mir-325 MIRN325 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442899 ENSG00000207995 uc033ejm.1 NR_029905 MGI:3619336 MI0000824 HGNC:31768 +HGNC:50346 MIR325HG MIR325 host gene non-coding RNA RNA, long non-coding Approved Xq13.3-q21.1 Xq13.3-q21.1 MIR384HG MIR325 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2014-04-15 2015-02-20 2016-11-16 101928469 OTTHUMG00000189737 AK311342 NR_110400 MIR325HG HGNC:50346 +HGNC:31769 MIR326 microRNA 326 non-coding RNA RNA, micro Approved 11q13.4 11q13.4 hsa-mir-326 MIRN326 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442900 ENSG00000199090 uc010rrt.2 NR_029891 MGI:3619338 RGD:2325623 613755 MI0000808 HGNC:31769 +HGNC:31770 MIR328 microRNA 328 non-coding RNA RNA, micro Approved 16q22.1 16q22.1 hsa-mir-328 MIRN328 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442901 ENSG00000207948 uc010vjf.2 NR_029887 MGI:3619340 RGD:2325404 613701 MI0000804 HGNC:31770 +HGNC:32050 MIR329-1 microRNA 329-1 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-329-1 MIRN329-1 MicroRNA MIR329 family 1771 2005-07-11 2008-12-18 2019-01-31 574408 ENSG00000207761 uc021scq.2 NR_029967 MGI:3619341 MI0001725 HGNC:32050 +HGNC:32051 MIR329-2 microRNA 329-2 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-329-2 MIRN329-2 MicroRNA MIR329 family 1771 2005-07-11 2008-12-18 2019-01-31 574409 ENSG00000207762 uc021scr.1 NR_029968 MGI:3619341 MI0001726 HGNC:32051 +HGNC:31771 MIR330 microRNA 330 non-coding RNA RNA, micro Approved 19q13.32 19q13.32 hsa-mir-330 MIRN330 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442902 ENSG00000284544 uc002pcr.1 NR_029886 MGI:3619345 RGD:2325620 MI0000803 HGNC:31771 +HGNC:31772 MIR331 microRNA 331 non-coding RNA RNA, micro Approved 12q22 12q22 hsa-mir-331 MIRN331 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442903 ENSG00000199172 uc001tea.2 NR_029895 MGI:3619347 RGD:2325619 MI0000812 HGNC:31772 +HGNC:31773 MIR335 microRNA 335 non-coding RNA RNA, micro Approved 7q32.2 07q32.2 hsa-mir-335 MIRN335 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442904 ENSG00000199043 uc011kpi.2 NR_029899 MGI:3619348 611768 MI0000816 HGNC:31773 +HGNC:31774 MIR337 microRNA 337 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-337 MIRN337 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442905 ENSG00000199151 uc010txi.3 NR_029889 MGI:3619351 RGD:2325618 MI0000806 HGNC:31774 +HGNC:31775 MIR338 microRNA 338 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-338 MIRN338 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-18 442906 ENSG00000283604 NR_029897 20300657 MGI:3619352 614059 MI0000814 HGNC:31775 +HGNC:31776 MIR339 microRNA 339 non-coding RNA RNA, micro Approved 7p22.3 07p22.3 hsa-mir-339 MIRN339 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442907 ENSG00000199023 uc011jvv.2 NR_029898 MGI:3619354 RGD:2325466 615977 MI0000815 HGNC:31776 +HGNC:31777 MIR340 microRNA 340 non-coding RNA RNA, micro Approved 5q35.3 05q35.3 hsa-mir-340 MIRN340 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442908 ENSG00000198995 uc003mln.4 NR_029885 MGI:3619355 MI0000802 HGNC:31777 +HGNC:31778 MIR342 microRNA 342 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-342 MIRN342 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442909 ENSG00000199082 uc021sbp.1 NR_029888 MGI:3619358 RGD:2325615 MI0000805 HGNC:31778 +HGNC:31779 MIR345 microRNA 345 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-345 MIRN345 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442910 ENSG00000198984 uc010twy.1 NR_029906 MGI:3619361 RGD:2325465 MI0000825 HGNC:31779 +HGNC:31780 MIR346 microRNA 346 non-coding RNA RNA, micro Approved 10q23.2 10q23.2 hsa-mir-346 MIRN346 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442911 ENSG00000199104 uc010qmg.2 NR_029907 MGI:3619362 RGD:2325402 611190 MI0000826 HGNC:31780 +HGNC:31867 MIR361 microRNA 361 non-coding RNA RNA, micro Approved Xq21.2 Xq21.2 hsa-mir-361 MIRN361 MicroRNAs 476 2005-01-04 2008-12-18 2019-01-31 494323 ENSG00000199051 uc022bzp.2 NR_029848 MGI:3619368 RGD:2325532 MI0000760 HGNC:31867 +HGNC:32022 MIR362 microRNA 362 non-coding RNA RNA, micro Approved Xp11.23 Xp11.23 hsa-mir-362 MIRN362 MicroRNA MIR500 family 1773 2005-06-30 2008-12-18 2019-01-31 574030 ENSG00000208015 uc022bwh.2 NR_029850 MGI:3619369 MI0000762 HGNC:32022 +HGNC:32023 MIR363 microRNA 363 non-coding RNA RNA, micro Approved Xq26.2 Xq26.2 "hsa-mir-363|MIR-363" MIRN363 MicroRNA MIR25/92 family 1705 2005-06-30 2008-12-18 2019-01-24 574031 ENSG00000284499 uc022ceb.2 NR_029852 MGI:3619370 RGD:2325446 MI0000764 HGNC:32023 +HGNC:33692 MIR365A microRNA 365a non-coding RNA RNA, micro Approved 16p13.12 16p13.12 hsa-mir-365-1 "MIRN365-1|MIR365-1" microRNA 365-1 MicroRNA MIR365 family 1762 2007-10-25 2011-11-14 2011-11-14 2019-01-30 100126355 ENSG00000199130 uc021tdh.2 NR_029854 MGI:3619371 614735 MI0000767 HGNC:33692 +HGNC:33693 MIR365B microRNA 365b non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-365-2 "MIRN365-2|MIR365-2" microRNA 365-2 MicroRNA MIR365 family 1762 2007-10-25 2011-11-14 2011-11-14 2019-01-30 100126356 ENSG00000283978 uc021tus.1 NR_029856 MGI:3619372 RGD:2325371 MI0000769 HGNC:33693 +HGNC:55941 MIR365BHG MIR365B and MIR4725 host gene non-coding RNA RNA, long non-coding Approved 17q11.2 17q11.2 MicroRNA non-coding host genes 1688 2021-11-10 2021-11-10 123464515 ENSG00000228768 +HGNC:31781 MIR367 microRNA 367 non-coding RNA RNA, micro Approved 4q25 04q25 hsa-mir-367 MIRN367 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-24 442912 ENSG00000199169 uc011cfz.3 NR_029860 MGI:3619373 614600 MI0000775 HGNC:31781 +HGNC:31783 MIR369 microRNA 369 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-369 MIRN369 MicroRNA MIR154 family 1769 2004-07-22 2008-12-18 2019-01-31 442914 ENSG00000199025 uc010txp.1 NR_029862 MGI:3619374 611794 MI0000777 HGNC:31783 +HGNC:31784 MIR370 microRNA 370 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-370 MIRN370 MicroRNAs 476 2004-07-22 2008-12-18 2019-01-31 442915 ENSG00000199005 uc021scg.3 NR_029863 MGI:3619375 RGD:2325369 612553 MI0000778 HGNC:31784 +HGNC:31785 MIR371A microRNA 371a non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-371 "MIRN371|MIR371" microRNA 371 MicroRNA MIR371 family 1779 2004-07-22 2011-11-14 2011-11-14 2014-11-19 442916 ENSG00000199031 uc010yec.3 NR_029864 RGD:2325374 612043 MI0000779 HGNC:31785 +HGNC:41863 MIR371B microRNA 371b non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-371b MicroRNA MIR371 family 1779 2011-05-02 2016-11-16 100616185 ENSG00000284568 NR_039909 MI0017393 HGNC:41863 +HGNC:31786 MIR372 microRNA 372 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-372 MIRN372 MicroRNA MIR371 family 1779 2004-07-22 2008-12-18 2014-11-19 442917 ENSG00000199095 uc061clc.1 NR_029865 RGD:4108499 612044 MI0000780 HGNC:31786 +HGNC:31787 MIR373 microRNA 373 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-373 MIRN373 MicroRNA MIR371 family 1779 2004-07-22 2008-12-18 2014-11-19 442918 ENSG00000199143 uc010yee.1 NR_029866 611954 MI0000781 HGNC:31787 +HGNC:31788 MIR374A microRNA 374a non-coding RNA RNA, micro Approved Xq13.2 Xq13.2 "hsa-mir-374|hsa-mir-374a" "MIRN374|MIRN374A" microRNA 374 MicroRNA MIR374 family 1775 2004-07-22 2008-12-18 2007-10-23 2014-11-19 442919 ENSG00000199168 uc011mqm.3 NR_030785 MI0000782 HGNC:31788 +HGNC:33665 MIR374B microRNA 374b non-coding RNA RNA, micro Approved Xq13.2 Xq13.2 hsa-mir-374b MIRN374B MicroRNA MIR374 family 1775 2007-10-24 2008-12-18 2019-01-31 100126317 ENSG00000212027 uc022bzc.2 NR_030620 MGI:3629958 RGD:2325517 MI0005566 HGNC:33665 +HGNC:38907 MIR374C microRNA 374c non-coding RNA RNA, micro Approved Xq13.2 Xq13.2 hsa-mir-374c MicroRNA MIR374 family 1775 2010-09-15 2019-01-31 100500807 ENSG00000283534 NR_037511 MGI:4834330 MI0016684 HGNC:38907 +HGNC:31868 MIR375 microRNA 375 non-coding RNA RNA, micro Approved 2q35 02q35 hsa-mir-375 MIRN375 MicroRNAs 476 2005-01-04 2008-12-18 2019-02-01 494324 ENSG00000198973 uc010fvz.2 NR_029867 "20102393|26507573" MGI:3619376 RGD:2325360 611173 MI0000783 HGNC:31868 +HGNC:31869 MIR376A1 microRNA 376a-1 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 "hsa-mir-376a|hsa-mir-376a-1" "MIRN376A|MIRN376A1" microRNA 376a MicroRNA MIR376 family 1777 2005-01-04 2008-12-18 2006-02-23 2019-02-01 494325 ENSG00000283588 uc010awc.2 NR_029868 MGI:3619377 610959 MI0000784 HGNC:31869 +HGNC:32532 MIR376A2 microRNA 376a-2 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-376a-2 MIRN376A2 MicroRNA MIR376 family 1777 2006-02-23 2008-12-18 2019-02-01 664615 ENSG00000283561 NR_030266 610960 MI0003529 HGNC:32532 +HGNC:32066 MIR376B microRNA 376b non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-376b MIRN376B MicroRNA MIR376 family 1777 2005-07-13 2008-12-18 2019-02-01 574435 ENSG00000283556 uc021sdb.2 NR_030157 MGI:3619378 610961 MI0002466 HGNC:32066 +HGNC:31782 MIR376C microRNA 376c non-coding RNA RNA, micro Approved 14q32.31 14q32.31 "hsa-mir-368|hsa-mir-376c" "MIRN368|MIRN376C" microRNA 368 MicroRNA MIR376 family 1777 2004-07-22 2008-12-18 2007-10-23 2019-02-01 442913 ENSG00000283279 uc010txn.2 NR_029861 MGI:3619381 610983 MI0000776 HGNC:31782 +HGNC:31870 MIR377 microRNA 377 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-377 MIRN377 MicroRNA MIR154 family 1769 2005-01-04 2008-12-18 2019-01-31 494326 ENSG00000199015 uc010awh.2 NR_029869 MGI:3619382 RGD:2325344 MI0000785 HGNC:31870 +HGNC:31871 MIR378A microRNA 378a non-coding RNA RNA, micro Approved 5q32 05q32 hsa-mir-378 "MIRN378|MIR378" microRNA 378 MicroRNA MIR378 family 1778 2005-01-04 2011-11-14 2011-11-14 2019-02-01 494327 ENSG00000199047 uc021yfq.2 NR_029870 MGI:3617791 611957 MI0000786 HGNC:31871 +HGNC:38283 MIR378B microRNA 378b non-coding RNA RNA, micro Approved 3p25.3 03p25.3 hsa-mir-378b MicroRNA MIR378 family 1778 2010-04-30 2016-11-16 100422933 ENSG00000264534 NR_036084 MI0014154 HGNC:38283 +HGNC:38374 MIR378C microRNA 378c non-coding RNA RNA, micro Approved 10q26.3 10q26.3 hsa-mir-378c MicroRNAs 476 2010-04-30 2016-11-16 100422867 ENSG00000264803 uc021qaz.1 NR_036180 MI0015825 HGNC:38374 +HGNC:41550 MIR378D1 microRNA 378d-1 non-coding RNA RNA, micro Approved 4p16.2 04p16.2 hsa-mir-378d-1 MicroRNA MIR378 family 1778 2011-05-02 2016-11-16 100616201 ENSG00000263631 uc021xky.1 NR_039608 MI0016749 HGNC:41550 +HGNC:41797 MIR378D2 microRNA 378d-2 non-coding RNA RNA, micro Approved 8q22.1 08q22.1 hsa-mir-378d-2 MicroRNA MIR378 family 1778 2011-05-02 2017-04-27 100616169 ENSG00000284288 uc022ayf.1 NR_039602 28418939 RGD:4888557 MI0003840 HGNC:41797 +HGNC:54166 MIR378D2HG MIR378D2 host gene non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 MicroRNA non-coding host genes 1688 2018-12-12 2018-12-12 114515521 ENSG00000264448 NR_170280 +HGNC:41671 MIR378E microRNA 378e non-coding RNA RNA, micro Approved 5q35.1 05q35.1 hsa-mir-378e MicroRNA MIR378 family 1778 2011-05-02 2016-11-16 100616498 ENSG00000263831 uc021yhn.1 NR_039609 MI0016750 HGNC:41671 +HGNC:41686 MIR378F microRNA 378f non-coding RNA RNA, micro Approved 1p36.11 01p36.11 hsa-mir-378f MicroRNAs 476 2011-05-02 2014-11-19 100616492 ENSG00000264926 uc021oik.1 NR_039615 MI0016756 HGNC:41686 +HGNC:41785 MIR378G microRNA 378g non-coding RNA RNA, micro Approved 1p21.3 01p21.3 hsa-mir-378g MicroRNAs 476 2011-05-02 2019-02-01 100616321 ENSG00000263526 uc031uhq.1 NR_039620 MI0016761 HGNC:41785 +HGNC:41744 MIR378H microRNA 378h non-coding RNA RNA, micro Approved 5q33.2 05q33.2 hsa-mir-378h MicroRNAs 476 2011-05-02 2015-02-09 100616306 ENSG00000263361 uc032vpb.1 NR_039667 MI0016808 HGNC:41744 +HGNC:41620 MIR378I microRNA 378i non-coding RNA RNA, micro Approved 22q13.2 22q13.2 hsa-mir-378i MicroRNAs 476 2011-05-02 2016-11-16 100616259 ENSG00000283829 uc032qqb.1 NR_039760 MI0016902 HGNC:41620 +HGNC:49979 MIR378J microRNA 378j non-coding RNA RNA, micro Approved 17q12 17q12 hsa-mir-378j MicroRNAs 476 2014-03-24 2016-11-16 102465136 ENSG00000274620 NR_106744 MI0021273 HGNC:49979 +HGNC:31872 MIR379 microRNA 379 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-379 MIRN379 MicroRNA MIR379 family 1770 2005-01-04 2008-12-18 2019-01-31 494328 ENSG00000199088 uc010awa.2 NR_029871 MGI:3619386 616358 MI0000787 HGNC:31872 +HGNC:31873 MIR380 microRNA 380 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-380 MIRN380 MicroRNA MIR379 family 1770 2005-01-04 2008-12-18 2019-01-31 494329 ENSG00000198982 NR_029872 MGI:3619389 613654 MI0000788 HGNC:31873 +HGNC:31874 MIR381 microRNA 381 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-381 MIRN381 MicroRNA MIR154 family 1769 2005-01-04 2008-12-18 2019-01-31 494330 ENSG00000199020 uc010awd.4 NR_029873 MGI:3619391 RGD:2325521 MI0000789 HGNC:31874 +HGNC:20136 MIR381HG MIR381 host gene non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 NCRNA00225 non-protein coding RNA 225 C14orf89 "chromosome 14 open reading frame 89|MIR381 host gene (non-protein coding)" MicroRNA non-coding host genes 1688 2003-10-03 2010-01-22 2015-02-20 2015-02-20 378881 ENSG00000258861 OTTHUMG00000171633 uc032blx.1 AA861571 NR_104192 MIR381HG HGNC:20136 +HGNC:31875 MIR382 microRNA 382 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-382 MIRN382 MicroRNA MIR154 family 1769 2005-01-04 2008-12-18 2019-01-31 494331 ENSG00000283170 uc059fhn.1 NR_029874 MGI:3619392 MI0000790 HGNC:31875 +HGNC:31876 MIR383 microRNA 383 non-coding RNA RNA, micro Approved 8p22 08p22 hsa-mir-383 MIRN383 MicroRNAs 476 2005-01-04 2008-12-18 2019-02-01 494332 ENSG00000199127 uc010lst.1 NR_029875 MGI:3619393 RGD:2325533 MI0000791 HGNC:31876 +HGNC:31878 MIR384 microRNA 384 non-coding RNA RNA, micro Approved Xq21.1 Xq21.1 hsa-mir-384 MIRN384 MicroRNAs 476 2005-01-04 2008-12-18 2019-02-13 494333 ENSG00000283242 NR_029909 MGI:3619394 MI0001145 HGNC:31878 +HGNC:32055 MIR409 microRNA 409 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-409 MIRN409 MicroRNA MIR154 family 1769 2005-07-11 2008-12-18 2019-01-31 574413 ENSG00000199107 uc021sdr.2 NR_029975 MGI:3619396 RGD:2325366 614057 MI0001735 HGNC:32055 +HGNC:32065 MIR410 microRNA 410 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-410 MIRN410 MicroRNA MIR154 family 1769 2005-07-13 2008-12-18 2008-01-07 2019-01-31 574434 ENSG00000199092 uc021sdt.2 NR_030156 MGI:3619398 RGD:2325501 615036 MI0002465 HGNC:32065 +HGNC:32792 MIR411 microRNA 411 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-411 MIRN411 MicroRNA MIR379 family 1770 2006-05-16 2008-12-18 2019-01-31 693121 ENSG00000199109 uc021scm.2 NR_030389 MGI:3619399 RGD:2325500 MI0003675 HGNC:32792 +HGNC:32064 MIR412 microRNA 412 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-412 MIRN412 MicroRNAs 476 2005-07-13 2008-12-18 2019-01-31 574433 ENSG00000199012 uc021sds.1 NR_030155 MGI:3619400 RGD:2325529 MI0002464 HGNC:32064 +HGNC:32793 MIR421 microRNA 421 non-coding RNA RNA, micro Approved Xq13.2 Xq13.2 hsa-mir-421 MIRN421 MicroRNA MIR95 family 1767 2006-05-16 2008-12-18 2019-01-31 693122 ENSG00000202566 uc022bzb.2 NR_030398 20080624 MGI:3718516 MI0003685 HGNC:32793 +HGNC:31879 MIR422A microRNA 422a non-coding RNA RNA, micro Approved 15q22.31 15q22.31 hsa-mir-422a MIRN422A MicroRNAs 476 2005-01-04 2008-12-18 2019-02-13 494334 ENSG00000199156 uc021sov.1 NR_029944 MI0001444 HGNC:31879 +HGNC:31880 MIR423 microRNA 423 non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-423 MIRN423 MicroRNAs 476 2005-01-04 2008-12-18 2019-02-01 494335 ENSG00000283935 uc002hew.1 NR_029945 MGI:3629888 RGD:2325359 MI0001445 HGNC:31880 +HGNC:31881 MIR424 microRNA 424 non-coding RNA RNA, micro Approved Xq26.3 Xq26.3 hsa-mir-424 MIRN424 MicroRNA MIR15/16 family 1737 2005-01-04 2008-12-18 2019-01-24 494336 ENSG00000284231 uc011mvo.2 NR_029946 MGI:3619333 RGD:2325467 300682 MI0001446 HGNC:31881 +HGNC:31882 MIR425 microRNA 425 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-425 MIRN425 MicroRNAs 476 2005-01-04 2008-12-18 2019-02-01 494337 ENSG00000199032 uc011bcb.1 NR_029948 MGI:3619401 RGD:2325499 MI0001448 HGNC:31882 +HGNC:13784 MIR429 microRNA 429 non-coding RNA RNA, micro Approved 1p36.33 01p36.33 hsa-mir-429 MIRN429 MicroRNA MIR141/200 family 1709 2005-05-24 2008-12-18 2019-02-13 554210 ENSG00000198976 uc010nyf.1 NR_029957 MGI:3619402 RGD:2325537 612094 MI0001641 HGNC:13784 +HGNC:32027 MIR431 microRNA 431 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-431 MIRN431 MicroRNAs 476 2005-06-30 2008-12-18 2019-01-31 574038 ENSG00000208001 uc021scc.1 NR_029965 22293894 MGI:3619403 RGD:2325450 611708 MI0001721 HGNC:32027 +HGNC:32083 MIR432 microRNA 432 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-432 MIRN432 MicroRNAs 476 2005-07-15 2008-12-18 2019-01-31 574451 ENSG00000272458 uc021sce.1 NR_030173 MGI:4358944 MI0003133 HGNC:32083 +HGNC:32026 MIR433 microRNA 433 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-433 MIRN433 MicroRNAs 476 2005-06-30 2008-12-18 2019-01-31 574034 ENSG00000207569 uc021scd.2 NR_029966 MGI:3619404 RGD:2325423 611711 MI0001723 HGNC:32026 +HGNC:26069 MIR448 microRNA 448 non-coding RNA RNA, micro Approved Xq23 Xq23 hsa-mir-448 MIRN448 MicroRNAs 476 2005-05-24 2008-12-18 2019-02-01 554212 ENSG00000199001 uc011mtd.2 NR_029955 20719859 MGI:3619406 RGD:2325372 300686 MI0001637 HGNC:26069 +HGNC:27645 MIR449A microRNA 449a non-coding RNA RNA, micro Approved 5q11.2 05q11.2 "hsa-mir-449|hsa-mir-449a" "MIRN449|MIRN449A" microRNA 449 MicroRNA MIR34/449 family 1702 2005-05-24 2008-12-18 2007-10-23 2019-01-24 554213 ENSG00000198983 uc011cqh.2 NR_029960 MGI:3619407 RGD:2325536 613131 MI0001648 HGNC:27645 +HGNC:32794 MIR449B microRNA 449b non-coding RNA RNA, micro Approved 5q11.2 05q11.2 hsa-mir-449b MIRN449B MicroRNA MIR34/449 family 1702 2006-05-16 2008-12-18 2019-01-24 693123 ENSG00000207728 uc021xyn.1 NR_030387 MGI:3718803 613132 MI0003673 HGNC:32794 +HGNC:37302 MIR449C microRNA 449c non-coding RNA RNA, micro Approved 5q11.2 05q11.2 hsa-mir-449c MicroRNA MIR34/449 family 1702 2009-09-18 2019-01-24 100313923 ENSG00000251856 uc021xyo.1 NR_031572 MGI:3639505 RGD:4888547 MI0003823 HGNC:37302 +HGNC:28008 MIR450A1 microRNA 450a-1 non-coding RNA RNA, micro Approved Xq26.3 Xq26.3 "hsa-mir-450|hsa-mir-450-1|hsa-mir-450a-1" "MIRN450|MIRN450-1|MIRN450A1" "microRNA 450|microRNA 450-1" MicroRNA MIR450 family 1789 2005-05-24 2008-12-18 2007-10-23 2019-02-01 554214 ENSG00000199132 uc011mvl.2 NR_029962 MGI:3619410 RGD:2325535 MI0001652 HGNC:28008 +HGNC:32137 MIR450A2 microRNA 450a-2 non-coding RNA RNA, micro Approved Xq26.3 Xq26.3 "hsa-mir-450-2|hsa-mir-450a-2" "MIRN450-2|MIRN450A2" microRNA 450-2 MicroRNA MIR450 family 1789 2005-07-15 2008-12-18 2007-10-23 2019-02-01 574505 ENSG00000207755 uc022ceg.2 NR_030227 MGI:3619411 MI0003187 HGNC:32137 +HGNC:33642 MIR450B microRNA 450b non-coding RNA RNA, micro Approved Xq26.3 Xq26.3 hsa-mir-450b MIRN450B MicroRNA MIR450 family 1789 2007-10-24 2008-12-18 2019-02-01 100126302 ENSG00000216001 uc022cef.2 NR_030587 MGI:3629953 MI0005531 HGNC:33642 +HGNC:32053 MIR451A microRNA 451a non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-451 "MIRN451|MIR451" microRNA 451 MicroRNA MIR451 family 1727 2005-07-11 2011-11-14 2011-11-14 2019-01-18 574411 ENSG00000284565 uc021ttv.1 NR_029970 20679397 MGI:3619412 RGD:2325534 612071 MI0001729 HGNC:32053 +HGNC:41655 MIR451B microRNA 451b non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-451b MicroRNA MIR451 family 1727 2011-05-02 2019-01-11 100616273 ENSG00000283364 NR_039876 MGI:5562734 MI0017360 HGNC:41655 +HGNC:32054 MIR452 microRNA 452 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-452 MIRN452 MicroRNAs 476 2005-07-11 2008-12-18 2019-02-01 574412 ENSG00000283751 uc065bqy.1 NR_029973 MGI:3619450 MI0001733 HGNC:32054 +HGNC:33137 MIR454 microRNA 454 non-coding RNA RNA, micro Approved 17q22 17q22 hsa-mir-454 MIRN454 MicroRNA MIR130 family 1713 2006-10-10 2008-12-18 2014-11-18 768216 ENSG00000211514 uc021uaq.1 NR_030411 MI0003820 HGNC:33137 +HGNC:32344 MIR455 microRNA 455 non-coding RNA RNA, micro Approved 9q32 09q32 hsa-mir-455 MIRN455 MicroRNAs 476 2005-10-14 2008-12-18 2019-02-01 619556 ENSG00000207726 uc011lxm.3 NR_030255 MGI:3629649 RGD:2325417 MI0003513 HGNC:32344 +HGNC:38359 MIR466 microRNA 466 non-coding RNA RNA, micro Approved 3p23 03p23 hsa-mir-466 MicroRNAs 476 2010-04-30 2019-02-13 100423038 ENSG00000265376 uc062htg.1 NR_130459 MI0014157 HGNC:38359 +HGNC:32340 MIR483 microRNA 483 non-coding RNA RNA, micro Approved 11p15.5 11p15.5 hsa-mir-483 MIRN483 MicroRNAs 476 2005-10-14 2008-12-18 2019-02-01 619552 ENSG00000207805 uc021qcc.2 NR_030158 21146586 MGI:3619420 MI0002467 HGNC:32340 +HGNC:32341 MIR484 microRNA 484 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-484 MIRN484 MicroRNAs 476 2005-10-14 2008-12-18 2019-02-13 619553 ENSG00000283736 uc021tdp.2 NR_030159 MGI:3619421 RGD:2325341 MI0002468 HGNC:32341 +HGNC:32067 MIR485 microRNA 485 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-485 MIRN485 MicroRNAs 476 2005-07-13 2008-12-18 2019-01-31 574436 ENSG00000208027 uc021sdm.2 NR_030160 MGI:3619422 615385 MI0002469 HGNC:32067 +HGNC:32342 MIR486-1 microRNA 486-1 non-coding RNA RNA, micro Approved 8p11.21 08p11.21 hsa-mir-486 "MIRN486|MIR486" microRNA 486 MicroRNA MIR486 family 1790 2005-10-14 2014-06-26 2014-06-26 2019-02-01 619554 ENSG00000274705 NR_030161 MGI:3619423 RGD:15006684 MI0002470 HGNC:32342 +HGNC:50213 MIR486-2 microRNA 486-2 non-coding RNA RNA, micro Approved 8p11.21 08p11.21 hsa-mir-486-2 MicroRNA MIR486 family 1790 2014-03-24 2019-02-01 102465696 ENSG00000283450 NR_106984 MGI:4834325 MI0023622 HGNC:50213 +HGNC:32343 MIR487A microRNA 487a non-coding RNA RNA, micro Approved 14q32.31 14q32.31 "hsa-mir-487|hsa-mir-487a" "MIRN487|MIRN487A" microRNA 487 MicroRNA MIR154 family 1769 2005-10-14 2008-12-18 2006-02-23 2016-10-10 619555 ENSG00000207742 uc021sdk.2 NR_030162 MI0002471 HGNC:32343 +HGNC:32533 MIR487B microRNA 487b non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-487b MIRN487B MicroRNA MIR154 family 1769 2006-02-23 2008-12-18 2019-01-31 664616 ENSG00000207754 uc021sdf.2 NR_030267 MGI:3619424 RGD:2325343 615037 MI0003530 HGNC:32533 +HGNC:32073 MIR488 microRNA 488 non-coding RNA RNA, micro Approved 1q25.2 01q25.2 hsa-mir-488 MIRN488 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-08 574441 ENSG00000202609 uc021pfc.2 NR_030163 MGI:3629597 RGD:2325487 MI0003123 HGNC:32073 +HGNC:32074 MIR489 microRNA 489 non-coding RNA RNA, micro Approved 7q21.3 07q21.3 hsa-mir-489 MIRN489 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-08 574442 ENSG00000207656 uc022ahk.1 NR_030164 MGI:3619425 RGD:2314886 614523 MI0003124 HGNC:32074 +HGNC:32075 MIR490 microRNA 490 non-coding RNA RNA, micro Approved 7q33 07q33 "hsa-mir-490|miR-490" MIRN490 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-08 574443 ENSG00000207597 uc022amd.1 NR_030165 MGI:3629662 RGD:2325414 616972 MI0003125 HGNC:32075 +HGNC:32076 MIR491 microRNA 491 non-coding RNA RNA, micro Approved 9p21.3 09p21.3 hsa-mir-491 MIRN491 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-08 574444 ENSG00000207609 uc022beb.2 NR_030166 MGI:3629651 MI0003126 HGNC:32076 +HGNC:32081 MIR492 microRNA 492 non-coding RNA RNA, micro Approved 12q22 12q22 hsa-mir-492 MIRN492 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-13 574449 ENSG00000283998 uc001tdk.3 NR_030171 614384 MI0003131 HGNC:32081 +HGNC:32082 MIR493 microRNA 493 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-493 MIRN493 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-08 574450 ENSG00000207989 uc021sca.2 NR_030172 MGI:3718542 MI0003132 HGNC:32082 +HGNC:55978 MIR493HG MIR493 cluster host gene non-coding RNA RNA, long non-coding Approved 14q32.31 14q32.31 MicroRNA non-coding host genes 1688 2021-11-12 2021-11-12 123466208 ENSG00000258399 +HGNC:32084 MIR494 microRNA 494 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-494 MIRN494 MicroRNA MIR154 family 1769 2005-07-15 2008-12-18 2019-01-31 574452 ENSG00000194717 uc010txm.3 NR_030174 MGI:3619426 RGD:2325523 616036 MI0003134 HGNC:32084 +HGNC:32085 MIR495 microRNA 495 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-495 MIRN495 MicroRNA MIR329 family 1771 2005-07-15 2008-12-18 2019-01-31 574453 ENSG00000207743 uc021scu.2 NR_030175 MGI:3629903 615149 MI0003135 HGNC:32085 +HGNC:32086 MIR496 microRNA 496 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-496 MIRN496 MicroRNA MIR154 family 1769 2005-07-15 2008-12-18 2019-01-31 574454 ENSG00000207961 uc021sdp.2 NR_030176 MGI:3629907 RGD:2325410 MI0003136 HGNC:32086 +HGNC:32088 MIR497 microRNA 497 non-coding RNA RNA, micro Approved 17p13.1 17p13.1 hsa-mir-497 MIRN497 MicroRNA MIR15/16 family 1737 2005-07-15 2008-12-18 2019-01-24 574456 ENSG00000284027 uc060ahi.1 NR_030178 MGI:3629886 RGD:2325364 615672 MI0003138 HGNC:32088 +HGNC:39523 MIR497HG mir-497-195 cluster host gene non-coding RNA RNA, long non-coding Approved 17p13.1 17p13.1 MIR195HG mir-497-195 cluster host gene (non-protein coding) MicroRNA non-coding host genes 1688 2011-02-14 2015-02-20 2015-02-20 100506755 ENSG00000267532 OTTHUMG00000180219 uc010vtj.3 NR_038310 HGNC:39523 +HGNC:32092 MIR498 microRNA 498 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-498 MIRN498 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-13 574460 ENSG00000207869 uc021uzm.1 NR_030182 MI0003142 HGNC:32092 +HGNC:32133 MIR499A microRNA 499a non-coding RNA RNA, micro Approved 20q11.22 20q11.22 hsa-mir-499 "MIRN499|MIR499" microRNA 499 MicroRNAs 476 2005-07-15 2011-11-14 2011-11-14 2019-02-08 574501 ENSG00000207635 uc021wcg.1 NR_030223 MGI:3629633 RGD:2325514 613614 MI0003183 HGNC:32133 +HGNC:41640 MIR499B microRNA 499b non-coding RNA RNA, micro Approved 20q11.22 20q11.22 hsa-mir-499a MIR499A microRNA 499a MicroRNAs 476 2011-05-02 2011-11-14 2011-11-14 2019-02-13 100616134 ENSG00000283441 NR_039912 MI0017396 HGNC:41640 +HGNC:32134 MIR500A microRNA 500a non-coding RNA RNA, micro Approved Xp11.23 Xp11.23 hsa-mir-500 "MIRN500|MIR500" microRNA 500 MicroRNA MIR500 family 1773 2005-07-15 2010-09-13 2010-09-13 2019-01-31 574502 ENSG00000207785 uc022bwg.1 NR_030224 MGI:3624341 MI0003184 HGNC:32134 +HGNC:38223 MIR500B microRNA 500b non-coding RNA RNA, micro Approved Xp11.23 Xp11.23 hsa-mir-500b MicroRNA MIR500 family 1773 2010-04-30 2019-01-31 100422911 ENSG00000239057 uc022bwj.2 NR_036257 MGI:3624341 MI0015903 HGNC:38223 +HGNC:32135 MIR501 microRNA 501 non-coding RNA RNA, micro Approved Xp11.23 Xp11.23 hsa-mir-501 MIRN501 MicroRNA MIR500 family 1773 2005-07-15 2008-12-18 2019-01-31 574503 ENSG00000211538 uc022bwi.1 NR_030225 MGI:3629949 MI0003185 HGNC:32135 +HGNC:32136 MIR502 microRNA 502 non-coding RNA RNA, micro Approved Xp11.23 Xp11.23 hsa-mir-502 MIRN502 MicroRNA MIR500 family 1773 2005-07-15 2008-12-18 2015-02-03 574504 ENSG00000272080 uc022bwl.1 NR_030226 RGD:2325495 300893 MI0003186 HGNC:32136 +HGNC:32138 MIR503 microRNA 503 non-coding RNA RNA, micro Approved Xq26.3 Xq26.3 hsa-mir-503 MIRN503 MicroRNA MIR15/16 family 1737 2005-07-15 2008-12-18 2019-01-24 574506 ENSG00000208005 uc011mvn.2 NR_030228 22072795 MGI:3619428 RGD:2325516 300865 MI0003188 HGNC:32138 +HGNC:28258 MIR503HG MIR503 host gene non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 "MGC16121|H19X" H19 X-linked co-expressed lncRNA MIR503 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2013-05-17 2015-02-20 2017-07-05 84848 ENSG00000223749 OTTHUMG00000022455 NR_024607 "24463510|27023770" MIR503HG HGNC:28258 +HGNC:32139 MIR504 microRNA 504 non-coding RNA RNA, micro Approved Xq26.3 Xq26.3 hsa-mir-504 MIRN504 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-08 574507 ENSG00000207800 uc022cfa.2 NR_030229 MGI:3718543 MI0003189 HGNC:32139 +HGNC:32140 MIR505 microRNA 505 non-coding RNA RNA, micro Approved Xq27.1 Xq27.1 hsa-mir-505 MIRN505 MicroRNAs 476 2005-07-15 2008-12-18 2019-02-08 574508 ENSG00000207633 uc022cfe.2 NR_030230 25449503 MGI:3629955 301053 MI0003190 HGNC:32140 +HGNC:32143 MIR506 microRNA 506 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-506 MIRN506 MicroRNA MIR506 family 1788 2005-07-15 2008-12-18 2014-11-19 574511 ENSG00000207731 uc022cfu.1 NR_030233 300877 MI0003193 HGNC:32143 +HGNC:32144 MIR507 microRNA 507 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-507 MIRN507 MicroRNA MIR506 family 1788 2005-07-15 2008-12-18 2014-11-19 574512 ENSG00000207969 uc022cfv.1 NR_030234 MI0003194 HGNC:32144 +HGNC:32145 MIR508 microRNA 508 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-508 MIRN508 MicroRNA MIR506 family 1788 2005-07-15 2008-12-18 2014-11-19 574513 ENSG00000207589 uc022cfw.1 NR_030235 300874 MI0003195 HGNC:32145 +HGNC:32146 MIR509-1 microRNA 509-1 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 "hsa-mir-509|hsa-mir-509-1" "MIRN509|MIRN509-1" microRNA 509 MicroRNA MIR506 family 1788 2005-07-15 2008-12-18 2007-10-23 2014-11-19 574514 ENSG00000208000 uc022cfz.1 NR_030236 300875 MI0003196 HGNC:32146 +HGNC:33641 MIR509-2 microRNA 509-2 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-509-2 MIRN509-2 MicroRNA MIR506 family 1788 2007-10-24 2008-12-18 2014-11-19 100126301 ENSG00000212013 uc065bld.1 NR_030586 MI0005530 HGNC:33641 +HGNC:33675 MIR509-3 microRNA 509-3 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-509-3 MIRN509-3 MicroRNA MIR506 family 1788 2007-10-24 2008-12-18 2014-11-19 100126337 ENSG00000212014 uc065ble.1 NR_030629 300876 MI0005717 HGNC:33675 +HGNC:32147 MIR510 microRNA 510 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-510 MIRN510 MicroRNA MIR506 family 1788 2005-07-15 2008-12-18 2014-11-18 574515 ENSG00000207641 uc022cga.1 NR_030237 300866 MI0003197 HGNC:32147 +HGNC:32077 MIR511 microRNA 511 non-coding RNA RNA, micro Approved 10p12.33 10p12.33 "hsa-mir-511-1|hsa-mir-511-2" "MIRN511-1|MIR511-2|MIRN511-2|MIR511-1" "microRNA 511-2|microRNA 511-1" MicroRNA MIR506 family 1788 2005-07-15 2014-03-17 2014-03-17 2020-04-20 574445 ENSG00000207938 NR_030168 MGI:3718546 MI0003127 HGNC:32077 +HGNC:32090 MIR512-1 microRNA 512-1 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-512-1 MIRN512-1 MicroRNA MIR506 family 1788 2005-07-15 2008-12-18 2014-11-19 574458 ENSG00000207645 uc021uzj.1 NR_030180 MI0003140 HGNC:32090 +HGNC:32091 MIR512-2 microRNA 512-2 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-512-2 MIRN512-2 MicroRNA MIR506 family 1788 2005-07-15 2008-12-18 2014-11-19 574459 ENSG00000207644 uc021uzk.1 NR_030181 MI0003141 HGNC:32091 +HGNC:32141 MIR513A1 microRNA 513a-1 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 "hsa-mir-513-1|hsa-mir-513a-1" "MIRN513-1|MIRN513A1" microRNA 513-1 MicroRNA MIR506 family 1788 2005-07-15 2008-12-18 2008-01-07 2014-11-18 574509 ENSG00000207873 uc033eyr.1 NR_030231 MI0003191 HGNC:32141 +HGNC:32142 MIR513A2 microRNA 513a-2 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-513-2 "MIRN513-2|MIRN513A-2|MIRN513A2" microRNA 513-2 MicroRNA MIR506 family 1788 2005-07-15 2008-12-18 2008-01-07 2014-11-19 574510 ENSG00000207984 uc033eys.1 NR_030232 MI0003192 HGNC:32142 +HGNC:33935 MIR513B microRNA 513b non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-513b MIRN513B MicroRNA MIR506 family 1788 2008-01-07 2008-12-18 2014-11-19 100313822 ENSG00000207871 uc033eyq.1 NR_031708 MI0006648 HGNC:33935 +HGNC:33934 MIR513C microRNA 513c non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-513c MIRN513C MicroRNA MIR506 family 1788 2008-01-07 2008-12-18 2014-11-19 100302114 ENSG00000216171 uc033eyp.1 NR_031709 RGD:4888578 MI0006649 HGNC:33934 +HGNC:32148 MIR514A1 microRNA 514a-1 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-514-1 "MIRN514-1|MIR514-1" microRNA 514-1 MicroRNA MIR506 family 1788 2005-07-15 2011-11-14 2011-11-14 2014-11-19 574516 ENSG00000207868 uc022cgb.1 NR_030238 MI0003198 HGNC:32148 +HGNC:32149 MIR514A2 microRNA 514a-2 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-514-2 "MIRN514-2|MIR514-2" microRNA 514-2 MicroRNA MIR506 family 1788 2005-07-15 2011-11-14 2011-11-14 2014-11-19 574517 ENSG00000207866 uc011mww.2 NR_030239 MI0003199 HGNC:32149 +HGNC:32150 MIR514A3 microRNA 514a-3 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-514-3 "MIRN514-3|MIR514-3" microRNA 514-3 MicroRNA MIR506 family 1788 2005-07-15 2011-11-14 2011-11-14 2014-11-19 574518 ENSG00000207867 uc011mwx.2 NR_030240 MI0003200 HGNC:32150 +HGNC:38292 MIR514B microRNA 514b non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-514b MicroRNA MIR506 family 1788 2010-04-30 2014-11-19 100422847 ENSG00000252583 uc022cfx.1 NR_036173 RGD:7489026 MI0014251 HGNC:38292 +HGNC:32094 MIR515-1 microRNA 515-1 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-515-1 MIRN515-1 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574462 ENSG00000207616 uc010ydz.2 NR_030184 MI0003144 HGNC:32094 +HGNC:32097 MIR515-2 microRNA 515-2 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-515-2 MIRN515-2 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574465 ENSG00000207615 uc010yea.3 NR_030187 MI0003147 HGNC:32097 +HGNC:32130 MIR516A1 microRNA 516a-1 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 "hsa-mir-516-1|hsa-mir-516a-1" "MIRN516-1|MIRN516A1" microRNA 516-1 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2007-10-23 2014-11-19 574498 ENSG00000207767 uc021vaw.2 NR_030220 MI0003180 HGNC:32130 +HGNC:32131 MIR516A2 microRNA 516a-2 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 "hsa-mir-516-2|hsa-mir-516a-2" "MIRN516-2|MIRN516A2" microRNA 516-2 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2007-10-23 2014-11-19 574499 ENSG00000207620 uc021vay.1 NR_030221 MI0003181 HGNC:32131 +HGNC:32122 MIR516B1 microRNA 516b-1 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 "hsa-mir-516-4|hsa-mir-516b-1" "MIRN516-4|MIRN516B1" microRNA 516-4 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2007-10-23 2014-11-19 574490 ENSG00000207946 uc021vap.2 NR_030212 MI0003172 HGNC:32122 +HGNC:32117 MIR516B2 microRNA 516b-2 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 "hsa-mir-516-3|hsa-mir-516b-2" "MIRN516-3|MIRN516B2" microRNA 516-3 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2007-10-23 2014-11-19 574485 ENSG00000207925 uc021vak.1 NR_030207 MI0003167 HGNC:32117 +HGNC:32111 MIR517A microRNA 517a non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-517a MIRN517A MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574479 ENSG00000207734 uc021vae.1 NR_030201 MI0003161 HGNC:32111 +HGNC:32115 MIR517B microRNA 517b non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-517b MIRN517B MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574483 ENSG00000207837 uc021vai.1 NR_030205 MI0003165 HGNC:32115 +HGNC:32124 MIR517C microRNA 517c non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-517c MIRN517C MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-18 574492 ENSG00000207838 uc021var.1 NR_030214 MI0003174 HGNC:32124 +HGNC:32120 MIR518A1 microRNA 518a-1 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-518a-1 "MIRN518A-1|MIRN518A1" MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574488 ENSG00000207803 uc021van.1 NR_030210 MI0003170 HGNC:32120 +HGNC:32123 MIR518A2 microRNA 518a-2 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-518a-2 "MIRN518A-2|MIRN518A2" MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-18 574491 ENSG00000207699 uc021vaq.1 NR_030213 MI0003173 HGNC:32123 +HGNC:32106 MIR518B microRNA 518b non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-518b MIRN518B MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574474 ENSG00000207862 uc021uzz.1 NR_030196 MI0003156 HGNC:32106 +HGNC:32109 MIR518C microRNA 518c non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-518c MIRN518C MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2016-10-10 574477 ENSG00000283490 uc021vac.2 NR_030199 MI0003159 HGNC:32109 +HGNC:32121 MIR518D microRNA 518d non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-518d MIRN518D MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2016-10-10 574489 ENSG00000283330 NR_030211 MI0003171 HGNC:32121 +HGNC:32119 MIR518E microRNA 518e non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-518e MIRN518E MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574487 ENSG00000207987 uc021vam.1 NR_030209 MI0003169 HGNC:32119 +HGNC:32104 MIR518F microRNA 518f non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-518f MIRN518F MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-18 574472 ENSG00000207706 uc021uzx.1 NR_030194 MI0003154 HGNC:32104 +HGNC:32128 MIR519A1 microRNA 519a-1 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-519a-1 "MIRN519A-1|MIRN519A1" MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574496 ENSG00000207992 uc021vau.1 NR_030218 MI0003178 HGNC:32128 +HGNC:32132 MIR519A2 microRNA 519a-2 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-519a-2 "MIRN519A-2|MIRN519A2" MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2016-10-10 574500 ENSG00000284362 NR_030222 MI0003182 HGNC:32132 +HGNC:32101 MIR519B microRNA 519b non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-519b MIRN519B MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574469 ENSG00000207825 uc021uzu.1 NR_030191 MI0003151 HGNC:32101 +HGNC:32098 MIR519C microRNA 519c non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-519c MIRN519C MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574466 ENSG00000207788 uc021uzq.1 NR_030188 MI0003148 HGNC:32098 +HGNC:32112 MIR519D microRNA 519d non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-519d MIRN519D MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574480 ENSG00000207981 uc021vaf.1 NR_030202 614247 MI0003162 HGNC:32112 +HGNC:32095 MIR519E microRNA 519e non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-519e MIRN519E MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574463 ENSG00000207810 uc021uzo.1 NR_030185 MI0003145 HGNC:32095 +HGNC:32099 MIR520A microRNA 520a non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-520a MIRN520A MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-18 574467 ENSG00000207594 uc021uzs.1 NR_030189 MI0003149 HGNC:32099 +HGNC:32105 MIR520B microRNA 520b non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-520b MIRN520B MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574473 ENSG00000207722 uc021uzy.1 NR_030195 MI0003155 HGNC:32105 +HGNC:32108 MIR520C microRNA 520c non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-520c MIRN520C MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574476 ENSG00000207738 uc021vab.1 NR_030198 615908 MI0003158 HGNC:32108 +HGNC:32114 MIR520D microRNA 520d non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-520d MIRN520D MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574482 ENSG00000207735 uc021vah.1 NR_030204 MI0003164 HGNC:32114 +HGNC:32093 MIR520E microRNA 520e non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-520e MIRN520E MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574461 ENSG00000207599 uc021uzn.1 NR_030183 MI0003143 HGNC:32093 +HGNC:32096 MIR520F microRNA 520f non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-520f MIRN520F MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2016-10-10 574464 ENSG00000283540 uc021uzp.2 NR_030186 MI0003146 HGNC:32096 +HGNC:32116 MIR520G microRNA 520g non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-520g MIRN520G MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2019-04-05 574484 ENSG00000207799 uc021vaj.1 NR_030206 26687818 616272 MI0003166 HGNC:32116 +HGNC:32125 MIR520H microRNA 520h non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-520h MIRN520H MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574493 ENSG00000207861 uc010yeb.2 NR_030215 614755 MI0003175 HGNC:32125 +HGNC:32126 MIR521-1 microRNA 521-1 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-521-1 MIRN521-1 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574494 ENSG00000207634 uc021vas.1 NR_030216 MI0003176 HGNC:32126 +HGNC:32113 MIR521-2 microRNA 521-2 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-521-2 MIRN521-2 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574481 ENSG00000207549 uc021vag.1 NR_030203 MI0003163 HGNC:32113 +HGNC:32127 MIR522 microRNA 522 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-522 MIRN522 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2015-01-29 574495 ENSG00000283685 uc021vat.2 NR_030217 MI0003177 HGNC:32127 +HGNC:32103 MIR523 microRNA 523 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-523 MIRN523 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2016-10-10 574471 ENSG00000283455 NR_030193 MI0003153 HGNC:32103 +HGNC:32110 MIR524 microRNA 524 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-524 MIRN524 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2016-10-10 574478 ENSG00000283289 uc021vad.2 NR_030200 MI0003160 HGNC:32110 +HGNC:32102 MIR525 microRNA 525 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-525 MIRN525 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574470 ENSG00000207711 uc021uzv.1 NR_030192 MI0003152 HGNC:32102 +HGNC:32107 MIR526A1 microRNA 526a-1 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-526a-1 "MIRN526A-1|MIRN526A1" MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574475 ENSG00000207629 uc021vaa.1 NR_030197 MI0003157 HGNC:32107 +HGNC:32118 MIR526A2 microRNA 526a-2 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-526a-2 "MIRN526A-2|MIRN526A2" MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2016-11-16 574486 ENSG00000211532 uc021val.1 NR_030208 MI0003168 HGNC:32118 +HGNC:32100 MIR526B microRNA 526b non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-526b MIRN526B MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-19 574468 ENSG00000207580 uc021uzt.1 NR_030190 MI0003150 HGNC:32100 +HGNC:32129 MIR527 microRNA 527 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-527 MIRN527 MicroRNA MIR515 family 1780 2005-07-15 2008-12-18 2014-11-18 574497 ENSG00000207979 uc021vav.1 NR_030219 MI0003179 HGNC:32129 +HGNC:32795 MIR532 microRNA 532 non-coding RNA RNA, micro Approved Xp11.23 Xp11.23 hsa-mir-532 MIRN532 MicroRNA MIR188/532 family 1805 2006-05-16 2008-12-18 2019-02-13 693124 ENSG00000207758 uc033edn.1 NR_030241 MGI:3629950 RGD:2325358 301023 MI0003205 HGNC:32795 +HGNC:32529 MIR539 microRNA 539 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-539 MIRN539 MicroRNA MIR154 family 1769 2006-02-23 2008-12-18 2019-01-31 664612 ENSG00000202560 uc021sdg.2 NR_030256 MGI:3619427 MI0003514 HGNC:32529 +HGNC:33650 MIR541 microRNA 541 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-541 MIRN541 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-08 100126308 ENSG00000216179 uc021sdq.1 NR_030594 MGI:3619430 RGD:2325525 MI0005539 HGNC:33650 +HGNC:32534 MIR542 microRNA 542 non-coding RNA RNA, micro Approved Xq26.3 Xq26.3 hsa-mir-542 MIRN542 MicroRNAs 476 2006-02-23 2008-12-18 2019-02-08 664617 ENSG00000207784 uc022ceh.2 NR_030399 25046253 MGI:3619431 RGD:2325422 MI0003686 HGNC:32534 +HGNC:33664 MIR543 microRNA 543 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-543 MIRN543 MicroRNA MIR329 family 1771 2007-10-24 2008-12-18 2019-01-31 100126335 ENSG00000212040 uc021sct.2 NR_030619 MGI:3619432 MI0005565 HGNC:33664 +HGNC:32530 MIR544A microRNA 544a non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-544 "MIRN544|MIR544" microRNA 544 MicroRNA MIR544 family 1799 2006-02-23 2011-11-14 2011-11-14 2019-02-08 664613 ENSG00000207587 uc021sdi.1 NR_030257 MGI:3718547 RGD:2325481 MI0003515 HGNC:32530 +HGNC:38361 MIR544B microRNA 544b non-coding RNA RNA, micro Approved 3q21.2 03q21.2 hsa-mir-544b MicroRNA MIR544 family 1799 2010-04-30 2019-02-08 100422864 ENSG00000265981 uc032sae.1 NR_036088 MI0014159 HGNC:38361 +HGNC:32531 MIR545 microRNA 545 non-coding RNA RNA, micro Approved Xq13.2 Xq13.2 hsa-mir-545 MIRN545 MicroRNA MIR95 family 1767 2006-02-23 2008-12-18 2019-01-31 664614 ENSG00000207820 uc022bze.1 NR_030258 24505359 MI0003516 HGNC:32531 +HGNC:32796 MIR548A1 microRNA 548a-1 non-coding RNA RNA, micro Approved 6p22.3 06p22.3 hsa-mir-548a-1 MIRN548A1 MicroRNA MIR548 family 1806 2006-05-16 2008-12-18 2014-11-19 693125 ENSG00000207775 uc021yme.1 NR_030312 MI0003593 HGNC:32796 +HGNC:53539 MIR548A1HG MIR548A1 host gene non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 MicroRNA non-coding host genes 1688 2017-05-15 2017-05-15 105374956 ENSG00000283408 OTTHUMG00000191865 NR_149116 HGNC:53539 +HGNC:32797 MIR548A2 microRNA 548a-2 non-coding RNA RNA, micro Approved 6q23.3 06q23.3 hsa-mir-548a-2 MIRN548A2 MicroRNA MIR548 family 1806 2006-05-16 2008-12-18 2014-11-19 693126 ENSG00000207689 uc032xmp.1 NR_030317 MI0003598 HGNC:32797 +HGNC:32798 MIR548A3 microRNA 548a-3 non-coding RNA RNA, micro Approved 8q22.3 08q22.3 hsa-mir-548a-3 MIRN548A3 MicroRNA MIR548 family 1806 2006-05-16 2008-12-18 2014-11-19 693127 ENSG00000208032 uc033bvm.1 NR_030330 MI0003612 HGNC:32798 +HGNC:38944 MIR548AA1 microRNA 548aa-1 non-coding RNA RNA, micro Approved 8q24.13 08q24.13 hsa-mir-548aa-1 MicroRNA MIR548 family 1806 2010-09-15 2017-10-20 100500863 ENSG00000207704 uc033bxv.1 NR_037516 MI0016689 HGNC:38944 +HGNC:38921 MIR548AA2 microRNA 548aa-2 non-coding RNA RNA, micro Approved 17q24.2 17q24.2 hsa-mir-548aa-2 MicroRNA MIR548 family 1806 2010-09-15 2017-11-17 100500895 ENSG00000207688 uc032fpl.1 NR_037517 MI0016690 HGNC:38921 +HGNC:41825 MIR548AB microRNA 548ab non-coding RNA RNA, micro Approved 3q13.11 03q13.11 hsa-mir-548ab MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616336 ENSG00000265328 uc032rvy.1 NR_039611 MI0016752 HGNC:41825 +HGNC:41626 MIR548AC microRNA 548ac non-coding RNA RNA, micro Approved 1p13.1 01p13.1 hsa-mir-548ac MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616384 ENSG00000264419 uc031umz.1 NR_039621 MI0016762 HGNC:41626 +HGNC:41683 MIR548AD microRNA 548ad non-coding RNA RNA, micro Approved 2p22.3 02p22.3 hsa-mir-548ad MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616475 ENSG00000265301 uc032njn.1 NR_039629 MI0016770 HGNC:41683 +HGNC:41742 MIR548AE1 microRNA 548ae-1 non-coding RNA RNA, micro Approved 2q32.1 02q32.1 hsa-mir-548ae-1 MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616305 ENSG00000266808 uc032omi.1 NR_039638 MI0016779 HGNC:41742 +HGNC:41831 MIR548AE2 microRNA 548ae-2 non-coding RNA RNA, micro Approved 5q11.2 05q11.2 hsa-mir-548ae-2 MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616339 ENSG00000265699 uc032uvb.1 NR_039639 MI0016780 HGNC:41831 +HGNC:41625 MIR548AG1 microRNA 548ag-1 non-coding RNA RNA, micro Approved 4q13.1 04q13.1 hsa-mir-548ag-1 MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616450 ENSG00000265829 uc032tko.1 NR_039652 MI0016793 HGNC:41625 +HGNC:41745 MIR548AG2 microRNA 548ag-2 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-548ag-2 MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616440 ENSG00000265617 uc032poh.1 NR_039653 MI0016794 HGNC:41745 +HGNC:41605 MIR548AH microRNA 548ah non-coding RNA RNA, micro Approved 4q21.1 04q21.1 hsa-mir-548ah MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616254 ENSG00000283682 NR_039655 MI0016796 HGNC:41605 +HGNC:41854 MIR548AI microRNA 548ai non-coding RNA RNA, micro Approved 6q16.2 06q16.2 hsa-mir-548ai MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616347 ENSG00000265226 uc032xfm.1 NR_039672 MI0016813 HGNC:41854 +HGNC:41884 MIR548AJ1 microRNA 548aj-1 non-coding RNA RNA, micro Approved 6q23.2 06q23.2 hsa-mir-548aj-1 MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616191 ENSG00000265669 uc032xmc.1 NR_039673 MI0016814 HGNC:41884 +HGNC:41600 MIR548AJ2 microRNA 548aj-2 non-coding RNA RNA, micro Approved Xp11.4 Xp11.4 hsa-mir-548aj-2 MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616252 ENSG00000221466 uc033dzg.1 NR_039674 MI0016815 HGNC:41600 +HGNC:41893 MIR548AK microRNA 548ak non-coding RNA RNA, micro Approved 10p14 10p14 hsa-mir-548ak MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616488 ENSG00000265653 uc031vxh.1 NR_039699 MI0016840 HGNC:41893 +HGNC:41736 MIR548AL microRNA 548al non-coding RNA RNA, micro Approved 11q13.4 11q13.4 hsa-mir-548al MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616215 ENSG00000264402 uc031xvk.1 NR_039710 MI0016851 HGNC:41736 +HGNC:41637 MIR548AM microRNA 548am non-coding RNA RNA, micro Approved Xp22.2 Xp22.2 hsa-mir-548am MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616428 ENSG00000265144 uc033drr.1 NR_039762 MI0016904 HGNC:41637 +HGNC:41681 MIR548AN microRNA 548an non-coding RNA RNA, micro Approved Xq22.3 Xq22.3 hsa-mir-548an MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616144 ENSG00000263515 uc022ccb.2 NR_039765 MI0016907 HGNC:41681 +HGNC:43539 MIR548AO microRNA 548ao non-coding RNA RNA, micro Approved 8p11.21 08p11.21 hsa-mir-548ao MicroRNA MIR548 family 1806 2011-11-14 2016-11-16 100847068 ENSG00000263372 uc033bjc.1 NR_049801 MI0017871 HGNC:43539 +HGNC:43465 MIR548AP microRNA 548ap non-coding RNA RNA, micro Approved 15q25.3 15q25.3 hsa-mir-548ap MicroRNA MIR548 family 1806 2011-11-14 2016-11-16 100847084 ENSG00000264406 uc032coa.1 NR_049805 MI0017875 HGNC:43465 +HGNC:43488 MIR548AQ microRNA 548aq non-coding RNA RNA, micro Approved 3q27.2 03q27.2 hsa-mir-548aq MicroRNA MIR548 family 1806 2011-11-14 2016-11-16 100847078 ENSG00000265470 uc032smp.1 NR_049838 MI0019130 HGNC:43488 +HGNC:43455 MIR548AR microRNA 548ar non-coding RNA RNA, micro Approved 13q34 13q34 hsa-mir-548ar MicroRNA MIR548 family 1806 2011-11-14 2016-11-16 100847035 ENSG00000264539 uc032apz.1 NR_049839 MI0019131 HGNC:43455 +HGNC:43550 MIR548AS microRNA 548as non-coding RNA RNA, micro Approved 13q31.3 13q31.3 hsa-mir-548as MicroRNA MIR548 family 1806 2011-11-14 2016-11-16 100847092 ENSG00000263741 uc032amc.1 NR_049840 MI0019132 HGNC:43550 +HGNC:43517 MIR548AT microRNA 548at non-coding RNA RNA, micro Approved 17q21.2 17q21.2 hsa-mir-548at MicroRNA MIR548 family 1806 2011-11-14 2016-11-16 100847030 ENSG00000264314 uc032fir.1 NR_049845 MI0019137 HGNC:43517 +HGNC:43483 MIR548AU microRNA 548au non-coding RNA RNA, micro Approved 9q22.31 09q22.31 hsa-mir-548au MicroRNA MIR548 family 1806 2011-11-14 2016-11-16 100847045 ENSG00000283146 NR_049853 MI0019145 HGNC:43483 +HGNC:43537 MIR548AV microRNA 548av non-coding RNA RNA, micro Approved 18q22.3 18q22.3 hsa-mir-548av MicroRNA MIR548 family 1806 2011-11-14 2015-07-22 100847083 ENSG00000263750 uc032hhi.1 NR_049858 MI0019152 HGNC:43537 +HGNC:43454 MIR548AW microRNA 548aw non-coding RNA RNA, micro Approved 9q34.13 09q34.13 hsa-mir-548aw MicroRNA MIR548 family 1806 2011-11-14 2016-11-16 100846992 ENSG00000263816 uc033djr.1 NR_049862 MI0019283 HGNC:43454 +HGNC:43528 MIR548AX microRNA 548ax non-coding RNA RNA, micro Approved Xp22.2 Xp22.2 hsa-mir-548ax MicroRNA MIR548 family 1806 2011-11-14 2016-11-16 100847063 ENSG00000263652 uc033dqq.1 NR_049865 MI0019286 HGNC:43528 +HGNC:49943 MIR548AY microRNA 548ay non-coding RNA RNA, micro Approved 3p22.3 03p22.3 hsa-mir-548ay MicroRNA MIR548 family 1806 2014-03-24 2015-07-22 102465247 ENSG00000276147 NR_106753 MI0022210 HGNC:49943 +HGNC:49981 MIR548AZ microRNA 548az non-coding RNA RNA, micro Approved 8q24.12 08q24.12 hsa-mir-548az MicroRNA MIR548 family 1806 2014-03-24 2016-11-16 102466162 ENSG00000276479 NR_106755 MI0022212 HGNC:49981 +HGNC:32799 MIR548B microRNA 548b non-coding RNA RNA, micro Approved 6q22.31 06q22.31 hsa-mir-548b MIRN548B MicroRNA MIR548 family 1806 2006-05-16 2008-12-18 2014-11-19 693128 ENSG00000207982 uc021zei.1 NR_030315 MI0003596 HGNC:32799 +HGNC:50260 MIR548BA microRNA 548ba non-coding RNA RNA, micro Approved 2p16.3 02p16.3 hsa-mir-548ba MicroRNA MIR548 family 1806 2014-03-24 2016-11-16 102465854 ENSG00000212036 NR_107011 MI0025747 HGNC:50260 +HGNC:50834 MIR548BB microRNA 548bb non-coding RNA RNA, micro Approved 3p14.2 03p14.2 MI0029321 MicroRNA MIR548 family 1806 2014-06-26 2016-11-16 103504735 ENSG00000281426 NR_128708 MI0029321 HGNC:50834 +HGNC:54164 MIR548BC microRNA 548BC non-coding RNA RNA, micro Approved 17q12 17q12 hsa-mir-548bc MicroRNAs 476 2018-12-12 2018-12-12 113839521 NR_162098 25215888 MI0032315 HGNC:54164 +HGNC:32800 MIR548C microRNA 548c non-coding RNA RNA, micro Approved 12q14.2 12q14.2 hsa-mir-548c MIRN548C MicroRNA MIR548 family 1806 2006-05-16 2008-12-18 2014-11-19 693129 ENSG00000207546 uc021qzw.1 NR_030347 MI0003630 HGNC:32800 +HGNC:32801 MIR548D1 microRNA 548d-1 non-coding RNA RNA, micro Approved 8q24.13 08q24.13 hsa-mir-548d-1 MIRN548D1 MicroRNA MIR548 family 1806 2006-05-16 2008-12-18 2017-10-20 693130 ENSG00000283172 NR_030382 MI0003668 HGNC:32801 +HGNC:32802 MIR548D2 microRNA 548d-2 non-coding RNA RNA, micro Approved 17q24.2 17q24.2 hsa-mir-548d-2 MIRN548D2 MicroRNA MIR548 family 1806 2006-05-16 2008-12-18 2017-11-17 693131 ENSG00000263690 NR_030385 MI0003671 HGNC:32802 +HGNC:35275 MIR548E microRNA 548e non-coding RNA RNA, micro Approved 10q25.2 10q25.2 hsa-mir-548e MIRN548E MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-18 100313921 ENSG00000221214 uc031wtf.1 NR_031614 MI0006344 HGNC:35275 +HGNC:35305 MIR548F1 microRNA 548f-1 non-coding RNA RNA, micro Approved 10q21.1 10q21.1 hsa-mir-548f-1 MIRN548F1 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100302192 ENSG00000221594 uc031whl.1 NR_031642 MI0006374 HGNC:35305 +HGNC:35306 MIR548F2 microRNA 548f-2 non-coding RNA RNA, micro Approved 2q34 02q34 hsa-mir-548f-2 MIRN548F2 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100313771 ENSG00000221782 uc021vvy.1 NR_031643 MI0006375 HGNC:35306 +HGNC:35307 MIR548F3 microRNA 548f-3 non-coding RNA RNA, micro Approved 5q22.1 05q22.1 hsa-mir-548f-3 MIRN548F3 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100302159 ENSG00000221436 uc032vgn.1 NR_031644 MI0006376 HGNC:35307 +HGNC:35308 MIR548F4 microRNA 548f-4 non-coding RNA RNA, micro Approved 7q35 07q35 hsa-mir-548f-4 MIRN548F4 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100313895 ENSG00000221442 uc022aop.1 NR_031645 MI0006377 HGNC:35308 +HGNC:35309 MIR548F5 microRNA 548f-5 non-coding RNA RNA, micro Approved Xp21.1 Xp21.1 hsa-mir-548f-5 MIRN548F5 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100302239 ENSG00000221348 uc033dxp.1 NR_031646 MI0006378 HGNC:35309 +HGNC:35326 MIR548G microRNA 548g non-coding RNA RNA, micro Approved 4q31.22 04q31.22 hsa-mir-548g MIRN548G MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100313938 ENSG00000221369 uc032tzd.1 NR_031662 MI0006395 HGNC:35326 +HGNC:35342 MIR548H1 microRNA 548h-1 non-coding RNA RNA, micro Approved 14q23.2 14q23.2 hsa-mir-548h-1 MIRN548H1 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100313830 ENSG00000221537 uc032beg.1 NR_031677 MI0006411 HGNC:35342 +HGNC:35343 MIR548H2 microRNA 548h-2 non-coding RNA RNA, micro Approved 16p13.13 16p13.13 hsa-mir-548h-2 MIRN548H2 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100313773 ENSG00000221801 uc032drk.1 NR_031678 MI0006412 HGNC:35343 +HGNC:35344 MIR548H3 microRNA 548h-3 non-coding RNA RNA, micro Approved 17p12 17p12 hsa-mir-548h-3 MIRN548H3 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100302287 ENSG00000221698 uc032euf.1 NR_031679 MI0006413 HGNC:35344 +HGNC:35345 MIR548H4 microRNA 548h-4 non-coding RNA RNA, micro Approved 8p21.2 08p21.2 hsa-mir-548h-4 MIRN548H4 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100313884 ENSG00000221616 uc033bfp.1 NR_031680 MI0006414 HGNC:35345 +HGNC:41768 MIR548H5 microRNA 548h-5 non-coding RNA RNA, micro Approved 6q23.2 06q23.2 hsa-mir-548h-5 MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616455 ENSG00000266807 uc032xly.1 NR_039610 MI0016751 HGNC:41768 +HGNC:35352 MIR548I1 microRNA 548i-1 non-coding RNA RNA, micro Approved 3q21.2 03q21.2 hsa-mir-548i-1 MIRN548I1 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-18 100302204 ENSG00000221737 uc021xdg.1 NR_031687 MI0006421 HGNC:35352 +HGNC:35353 MIR548I2 microRNA 548i-2 non-coding RNA RNA, micro Approved 4p16.1 04p16.1 hsa-mir-548i-2 MIRN548I2 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100302277 ENSG00000221275 uc021xlt.1 NR_031688 MI0006422 HGNC:35353 +HGNC:35354 MIR548I3 microRNA 548i-3 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-548i-3 MIRN548I3 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100302186 ENSG00000221305 uc022arn.1 NR_031689 MI0006423 HGNC:35354 +HGNC:35355 MIR548I4 microRNA 548i-4 non-coding RNA RNA, micro Approved Xq21.1 Xq21.1 hsa-mir-548i-4 MIRN548I4 MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100302191 ENSG00000221494 uc033elg.1 NR_031690 MI0006424 HGNC:35355 +HGNC:35276 MIR548J microRNA 548j non-coding RNA RNA, micro Approved 22q12.1 22q12.1 hsa-mir-548j MIRN548J MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100313914 ENSG00000221760 uc021wnl.1 NR_031615 MI0006345 HGNC:35276 +HGNC:35285 MIR548K microRNA 548k non-coding RNA RNA, micro Approved 11q13.3 11q13.3 hsa-mir-548k MIRN548K MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100313770 ENSG00000221333 uc021qmq.1 NR_031624 MI0006354 HGNC:35285 +HGNC:35292 MIR548L microRNA 548l non-coding RNA RNA, micro Approved 11q21 11q21 hsa-mir-548l MIRN548L MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2016-11-16 100302275 ENSG00000221230 uc031ybg.1 NR_031630 MI0006361 HGNC:35292 +HGNC:35331 MIR548M microRNA 548m non-coding RNA RNA, micro Approved Xq21.33 Xq21.33 hsa-mir-548m MIRN548M MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100313772 ENSG00000221187 uc022bzz.2 NR_031667 MI0006400 HGNC:35331 +HGNC:35330 MIR548N microRNA 548n non-coding RNA RNA, micro Approved 7p14.2 07p14.2 hsa-mir-548n MIRN548N MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2016-11-16 100302152 ENSG00000221669 uc032zjm.1 NR_031666 MI0006399 HGNC:35330 +HGNC:35333 MIR548O microRNA 548o non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-548o MIRN548O MicroRNAs 476 2008-11-03 2008-12-18 2014-11-19 100313829 ENSG00000221510 uc033abd.1 NR_031669 MI0006402 HGNC:35333 +HGNC:41882 MIR548O2 microRNA 548o-2 non-coding RNA RNA, micro Approved 20q11.23 20q11.23 hsa-mir-548o-2 MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616190 ENSG00000275453 NR_039605 MI0016746 HGNC:41882 +HGNC:35351 MIR548P microRNA 548p non-coding RNA RNA, micro Approved 5q21.1 05q21.1 hsa-mir-548p MIRN548P MicroRNA MIR548 family 1806 2008-11-03 2008-12-18 2014-11-19 100302288 ENSG00000221263 uc032vel.1 NR_031686 MI0006420 HGNC:35351 +HGNC:37312 MIR548Q microRNA 548q non-coding RNA RNA, micro Approved 10p13 10p13 hsa-mir-548q MicroRNA MIR548 family 1806 2009-09-18 2014-11-19 100313841 ENSG00000221331 uc031vxn.1 NR_031752 MI0010637 HGNC:37312 +HGNC:38354 MIR548S microRNA 548s non-coding RNA RNA, micro Approved 2p25.1 02p25.1 hsa-mir-548s MicroRNA MIR548 family 1806 2010-04-30 2016-11-16 100422862 ENSG00000265056 uc032ner.1 NR_036071 MI0014141 HGNC:38354 +HGNC:38298 MIR548T microRNA 548t non-coding RNA RNA, micro Approved 4q34.1 04q34.1 hsa-mir-548t MicroRNA MIR548 family 1806 2010-04-30 2016-11-16 100422849 ENSG00000221296 uc032uen.1 NR_036093 MI0014164 HGNC:38298 +HGNC:38316 MIR548U microRNA 548u non-coding RNA RNA, micro Approved 6p11.2 06p11.2 hsa-mir-548u MicroRNA MIR548 family 1806 2010-04-30 2016-11-16 100422884 ENSG00000212017 uc032wzc.1 NR_036097 MI0014168 HGNC:38316 +HGNC:38302 MIR548V microRNA 548v non-coding RNA RNA, micro Approved 8p22 08p22 hsa-mir-548v MicroRNA MIR548 family 1806 2010-04-30 2015-07-22 100422850 ENSG00000265520 uc033bdu.1 NR_036103 MI0014174 HGNC:38302 +HGNC:38255 MIR548W microRNA 548w non-coding RNA RNA, micro Approved 16p12.1 16p12.1 hsa-mir-548w MicroRNA MIR548 family 1806 2010-04-30 2016-11-16 100422923 ENSG00000265005 uc032dvn.1 NR_036146 MI0014222 HGNC:38255 +HGNC:38248 MIR548X microRNA 548x non-coding RNA RNA, micro Approved 21q21.1 21q21.1 hsa-mir-548x MicroRNA MIR548 family 1806 2010-04-30 2016-11-16 100422920 ENSG00000265841 uc032pvs.1 NR_036166 MI0014244 HGNC:38248 +HGNC:41734 MIR548X2 microRNA 548x-2 non-coding RNA RNA, micro Approved 13q21.32 13q21.32 hsa-mir-548x-2 MicroRNA MIR548 family 1806 2011-05-02 2016-11-16 100616302 ENSG00000263581 uc032aim.1 NR_039692 MI0016833 HGNC:41734 +HGNC:52006 MIR548XHG MIR548X host gene non-coding RNA RNA, long non-coding Approved 21q21.1 21q21.1 MicroRNA non-coding host genes 1688 2015-10-15 2015-10-15 101927797 ENSG00000224141 OTTHUMG00000074544 NR_109925 MIR548XHG HGNC:52006 +HGNC:38980 MIR548Y microRNA 548y non-coding RNA RNA, micro Approved 14q21.3 14q21.3 hsa-mir-548y MicroRNA MIR548 family 1806 2010-09-15 2015-07-22 100500919 ENSG00000263945 uc021rsn.1 NR_037503 MI0016595 HGNC:38980 +HGNC:38929 MIR548Z microRNA 548z non-coding RNA RNA, micro Approved 12q14.2 12q14.2 hsa-mir-548z MicroRNA MIR548 family 1806 2010-09-15 2016-11-16 100500856 ENSG00000266016 NR_037515 MI0016688 HGNC:38929 +HGNC:32803 MIR549A microRNA 549a non-coding RNA RNA, micro Approved 15q25.1 15q25.1 hsa-mir-549 "MIRN549|MIR549" microRNA 549 MicroRNAs 476 2006-05-16 2014-03-17 2014-03-17 2019-02-13 693132 ENSG00000208003 NR_030393 MI0003679 HGNC:32803 +HGNC:32804 MIR550A1 microRNA 550a-1 non-coding RNA RNA, micro Approved 7p14.3 07p14.3 hsa-mir-550-1 "MIRN550-1|MIR550-1" microRNA 550-1 MicroRNA MIR550 family 1800 2006-05-16 2010-09-13 2010-09-13 2014-11-19 693133 ENSG00000207771 uc022abd.1 NR_030319 MI0003600 HGNC:32804 +HGNC:32805 MIR550A2 microRNA 550a-2 non-coding RNA RNA, micro Approved 7p14.3 07p14.3 "hsa-mir-550-2|hsa-mir-550a-2" "MIRN550-2|MIR550-2" microRNA 550-2 MicroRNA MIR550 family 1800 2006-05-16 2010-09-13 2010-09-13 2014-11-19 693134 ENSG00000207573 uc022abm.1 NR_030320 MI0003601 HGNC:32805 +HGNC:41870 MIR550A3 microRNA 550a-3 non-coding RNA RNA, micro Approved 7p14.3 07p14.3 hsa-mir-550a-3 MicroRNA MIR550 family 1800 2011-05-02 2016-11-16 100616354 ENSG00000212024 uc022aay.1 NR_039600 MI0003762 HGNC:41870 +HGNC:38992 MIR550B1 microRNA 550b-1 non-coding RNA RNA, micro Approved 7p14.3 07p14.3 hsa-mir-550b-1 MicroRNA MIR550 family 1800 2010-09-15 2016-11-16 100500883 ENSG00000283237 NR_037513 MI0016686 HGNC:38992 +HGNC:38910 MIR550B2 microRNA 550b-2 non-coding RNA RNA, micro Approved 7p14.3 07p14.3 hsa-mir-550b-2 MicroRNA MIR550 family 1800 2010-09-15 2016-11-16 100500830 ENSG00000283461 NR_037514 MI0016687 HGNC:38910 +HGNC:32806 MIR551A microRNA 551a non-coding RNA RNA, micro Approved 1p36.32 01p36.32 hsa-mir-551a MIRN551A MicroRNA MIR551 family 1765 2006-05-16 2008-12-18 2014-11-19 693135 ENSG00000207776 uc021ofa.2 NR_030277 615148 MI0003556 HGNC:32806 +HGNC:32807 MIR551B microRNA 551b non-coding RNA RNA, micro Approved 3q26.2 03q26.2 hsa-mir-551b MIRN551B MicroRNA MIR551 family 1765 2006-05-16 2008-12-18 2019-01-30 693136 ENSG00000207717 uc021xha.1 NR_030294 MGI:3691605 RGD:2325355 MI0003575 HGNC:32807 +HGNC:32808 MIR552 microRNA 552 non-coding RNA RNA, micro Approved 1p34.3 01p34.3 hsa-mir-552 MIRN552 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693137 ENSG00000207941 uc031twx.1 NR_030278 MI0003557 HGNC:32808 +HGNC:32809 MIR553 microRNA 553 non-coding RNA RNA, micro Approved 1p21.2 01p21.2 hsa-mir-553 MIRN553 MicroRNAs 476 2006-05-16 2008-12-18 2014-11-19 693138 ENSG00000207750 uc021oqp.1 NR_030279 MI0003558 HGNC:32809 +HGNC:32810 MIR554 microRNA 554 non-coding RNA RNA, micro Approved 1q21.3 01q21.3 hsa-mir-554 MIRN554 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693139 ENSG00000207606 uc021oyr.1 NR_030280 MI0003559 HGNC:32810 +HGNC:32811 MIR555 microRNA 555 non-coding RNA RNA, micro Approved 1q22 01q22 hsa-mir-555 MIRN555 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693140 ENSG00000283701 uc021pay.1 NR_030282 MI0003561 HGNC:32811 +HGNC:32812 MIR556 microRNA 556 non-coding RNA RNA, micro Approved 1q23.3 01q23.3 hsa-mir-556 MIRN556 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693141 ENSG00000207729 uc021pdr.2 NR_030283 MI0003562 HGNC:32812 +HGNC:32813 MIR557 microRNA 557 non-coding RNA RNA, micro Approved 1q24.2 01q24.2 hsa-mir-557 MIRN557 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693142 ENSG00000207974 uc021pel.1 NR_030284 MI0003563 HGNC:32813 +HGNC:32814 MIR558 microRNA 558 non-coding RNA RNA, micro Approved 2p22.3 02p22.3 hsa-mir-558 MIRN558 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693143 ENSG00000207653 uc021vfr.1 NR_030285 616473 MI0003564 HGNC:32814 +HGNC:32815 MIR559 microRNA 559 non-coding RNA RNA, micro Approved 2p21 02p21 hsa-mir-559 MIRN559 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693144 ENSG00000207923 uc021vhd.1 NR_030286 MI0003565 HGNC:32815 +HGNC:32817 MIR561 microRNA 561 non-coding RNA RNA, micro Approved 2q32.1 02q32.1 hsa-mir-561 MIRN561 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693146 ENSG00000207951 uc021vtt.1 NR_030287 MI0003567 HGNC:32817 +HGNC:32818 MIR562 microRNA 562 non-coding RNA RNA, micro Approved 2q37.1 02q37.1 hsa-mir-562 MIRN562 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693147 ENSG00000207626 uc021vyf.1 NR_030288 MI0003568 HGNC:32818 +HGNC:32819 MIR563 microRNA 563 non-coding RNA RNA, micro Approved 3p25.1 03p25.1 hsa-mir-563 MIRN563 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693148 ENSG00000207815 uc021wtp.1 NR_030289 MI0003569 HGNC:32819 +HGNC:32820 MIR564 microRNA 564 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-564 MIRN564 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693149 ENSG00000284498 uc021wwr.1 NR_030290 MI0003570 HGNC:32820 +HGNC:32823 MIR567 microRNA 567 non-coding RNA RNA, micro Approved 3q13.2 03q13.2 hsa-mir-567 MIRN567 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693152 ENSG00000207940 uc021xck.1 NR_030292 MI0003573 HGNC:32823 +HGNC:32824 MIR568 microRNA 568 non-coding RNA RNA, micro Approved 3q13.31 03q13.31 hsa-mir-568 MIRN568 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693153 ENSG00000284134 uc003ebh.2 NR_030293 MGI:3718548 MI0003574 HGNC:32824 +HGNC:32825 MIR569 microRNA 569 non-coding RNA RNA, micro Approved 3q26.2 03q26.2 hsa-mir-569 MIRN569 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693154 ENSG00000207963 uc021xhh.1 NR_030295 MI0003576 HGNC:32825 +HGNC:32826 MIR570 microRNA 570 non-coding RNA RNA, micro Approved 3q29 03q29 hsa-mir-570 MIRN570 MicroRNA MIR548 family 1806 2006-05-16 2008-12-18 2016-11-16 693155 ENSG00000207650 uc021xjf.1 NR_030296 614538 MI0003577 HGNC:32826 +HGNC:53743 MIR570HG MIR570 host gene non-coding RNA RNA, long non-coding Approved 3q29 03q29 ENST00000453324 LINC00969 long intergenic non-protein coding RNA 969 MicroRNA non-coding host genes 1688 2017-09-27 2018-01-12 440993 NR_122105 HGNC:53743 +HGNC:32827 MIR571 microRNA 571 non-coding RNA RNA, micro Approved 4p16.3 04p16.3 hsa-mir-571 MIRN571 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693156 ENSG00000207642 uc032tah.1 NR_030297 MI0003578 HGNC:32827 +HGNC:32828 MIR572 microRNA 572 non-coding RNA RNA, micro Approved 4p15.33 04p15.33 hsa-mir-572 MIRN572 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693157 ENSG00000207716 uc021xmf.1 NR_030298 MI0003579 HGNC:32828 +HGNC:32829 MIR573 microRNA 573 non-coding RNA RNA, micro Approved 4p15.2 04p15.2 hsa-mir-573 MIRN573 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693158 ENSG00000207697 uc021xmx.1 NR_030299 MI0003580 HGNC:32829 +HGNC:32830 MIR574 microRNA 574 non-coding RNA RNA, micro Approved 4p14 04p14 hsa-mir-574 MIRN574 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-08 693159 ENSG00000207944 uc021xno.1 NR_030300 MGI:3718549 615469 MI0003581 HGNC:32830 +HGNC:32831 MIR575 microRNA 575 non-coding RNA RNA, micro Approved 4q21.22 04q21.22 hsa-mir-575 MIRN575 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693160 ENSG00000207746 uc021xpn.1 NR_030301 MI0003582 HGNC:32831 +HGNC:32832 MIR576 microRNA 576 non-coding RNA RNA, micro Approved 4q25 04q25 hsa-mir-576 MIRN576 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693161 ENSG00000207988 uc021xqq.1 NR_030302 MI0003583 HGNC:32832 +HGNC:32833 MIR577 microRNA 577 non-coding RNA RNA, micro Approved 4q26 04q26 hsa-mir-577 MIRN577 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693162 ENSG00000207931 uc021xqw.1 NR_030303 MI0003584 HGNC:32833 +HGNC:32834 MIR578 microRNA 578 non-coding RNA RNA, micro Approved 4q32.3 04q32.3 hsa-mir-578 MIRN578 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693163 ENSG00000207559 uc021xua.1 NR_030304 MI0003585 HGNC:32834 +HGNC:32835 MIR579 microRNA 579 non-coding RNA RNA, micro Approved 5p13.3 05p13.3 hsa-mir-579 MIRN579 MicroRNA MIR548 family 1806 2006-05-16 2008-12-18 2014-11-18 693164 ENSG00000207956 uc032upu.1 NR_030305 MI0003586 HGNC:32835 +HGNC:32836 MIR580 microRNA 580 non-coding RNA RNA, micro Approved 5p13.2 05p13.2 hsa-mir-580 MIRN580 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693165 ENSG00000207756 uc021xxm.1 NR_030306 MI0003587 HGNC:32836 +HGNC:32837 MIR581 microRNA 581 non-coding RNA RNA, micro Approved 5q11.2 05q11.2 hsa-mir-581 MIRN581 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693166 ENSG00000207627 uc021xyk.1 NR_030307 MI0003588 HGNC:32837 +HGNC:32838 MIR582 microRNA 582 non-coding RNA RNA, micro Approved 5q12.1 05q12.1 hsa-mir-582 MIRN582 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-08 693167 ENSG00000202601 uc021xyz.2 NR_030308 23295946 MGI:3718550 RGD:2325413 MI0003589 HGNC:32838 +HGNC:32839 MIR583 microRNA 583 non-coding RNA RNA, micro Approved 5q15 05q15 hsa-mir-583 MIRN583 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693168 ENSG00000207578 uc021ybp.1 NR_030309 MI0003590 HGNC:32839 +HGNC:53061 MIR583HG MIR583 host gene non-coding RNA RNA, long non-coding Approved 5q15 05q15 MicroRNA non-coding host genes 1688 2017-01-13 2017-01-13 107984114 ENSG00000250551 OTTHUMG00000162825 HGNC:53061 +HGNC:32840 MIR584 microRNA 584 non-coding RNA RNA, micro Approved 5q32 05q32 hsa-mir-584 MIRN584 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693169 ENSG00000207714 uc021yfl.2 NR_030310 MI0003591 HGNC:32840 +HGNC:32841 MIR585 microRNA 585 non-coding RNA RNA, micro Approved 5q35.1 05q35.1 hsa-mir-585 MIRN585 MicroRNAs 476 2006-05-16 2008-12-18 2014-11-19 693170 ENSG00000207619 uc021yhm.1 NR_030311 MI0003592 HGNC:32841 +HGNC:32842 MIR586 microRNA 586 non-coding RNA RNA, micro Approved 6p21.1 06p21.1 hsa-mir-586 MIRN586 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693171 ENSG00000207769 uc021zab.1 NR_030313 MI0003594 HGNC:32842 +HGNC:32843 MIR587 microRNA 587 non-coding RNA RNA, micro Approved 6q21 06q21 hsa-mir-587 MIRN587 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693172 ENSG00000207577 uc032xgz.1 NR_030314 MI0003595 HGNC:32843 +HGNC:32844 MIR588 microRNA 588 non-coding RNA RNA, micro Approved 6q22.32 06q22.32 hsa-mir-588 MIRN588 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693173 ENSG00000207632 uc032xlk.1 NR_030316 MI0003597 HGNC:32844 +HGNC:32845 MIR589 microRNA 589 non-coding RNA RNA, micro Approved 7p22.1 07p22.1 hsa-mir-589 MIRN589 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693174 ENSG00000207973 uc021zzd.1 NR_030318 23118514 MI0003599 HGNC:32845 +HGNC:32846 MIR590 microRNA 590 non-coding RNA RNA, micro Approved 7q11.23 07q11.23 hsa-mir-590 MIRN590 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-08 693175 ENSG00000207741 uc022afx.1 NR_030321 MGI:3718552 615070 MI0003602 HGNC:32846 +HGNC:32847 MIR591 microRNA 591 non-coding RNA RNA, micro Approved 7q21.3 07q21.3 hsa-mir-591 MIRN591 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693176 ENSG00000208025 uc022aho.1 NR_030322 MI0003603 HGNC:32847 +HGNC:32848 MIR592 microRNA 592 non-coding RNA RNA, micro Approved 7q31.33 07q31.33 hsa-mir-592 MIRN592 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-08 693177 ENSG00000207692 uc022akt.2 NR_030323 MGI:3629661 RGD:2314878 MI0003604 HGNC:32848 +HGNC:32849 MIR593 microRNA 593 non-coding RNA RNA, micro Approved 7q32.1 07q32.1 hsa-mir-593 MIRN593 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693178 ENSG00000207588 uc022akw.1 NR_030324 MI0003605 HGNC:32849 +HGNC:32851 MIR595 microRNA 595 non-coding RNA RNA, micro Approved 7q36.3 07q36.3 hsa-mir-595 MIRN595 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693180 ENSG00000207637 uc022aql.1 NR_030325 MI0003607 HGNC:32851 +HGNC:32852 MIR596 microRNA 596 non-coding RNA RNA, micro Approved 8p23.3 08p23.3 hsa-mir-596 MIRN596 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693181 ENSG00000207826 uc022aqo.1 NR_030326 MI0003608 HGNC:32852 +HGNC:32853 MIR597 microRNA 597 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-597 MIRN597 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693182 ENSG00000207701 uc022arr.1 NR_030327 MI0003609 HGNC:32853 +HGNC:32854 MIR598 microRNA 598 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-598 MIRN598 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-08 693183 ENSG00000207600 uc022arw.2 NR_030328 MGI:3718554 RGD:2325416 MI0003610 HGNC:32854 +HGNC:32855 MIR599 microRNA 599 non-coding RNA RNA, micro Approved 8q22.2 08q22.2 hsa-mir-599 MIRN599 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-08 693184 ENSG00000207804 uc022azd.1 NR_030329 26551255 MGI:4358945 MI0003611 HGNC:32855 +HGNC:32856 MIR600 microRNA 600 non-coding RNA RNA, micro Approved 9q33.3 09q33.3 hsa-mir-600 MIRN600 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693185 ENSG00000283941 uc064voj.1 NR_030331 MI0003613 HGNC:32856 +HGNC:23642 MIR600HG MIR600 host gene non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 "GL012|FLJ22161" "C9orf45|NCRNA00287" "chromosome 9 open reading frame 45|non-protein coding RNA 287|MIR600 host gene (non-protein coding)" MicroRNA non-coding host genes 1688 2003-11-27 2011-08-11 2015-02-20 2016-10-05 81571 ENSG00000236901 OTTHUMG00000020635 uc004bnp.5 BC015678 NR_026677 12477932 MIR600HG HGNC:23642 +HGNC:32857 MIR601 microRNA 601 non-coding RNA RNA, micro Approved 9q33.3 09q33.3 hsa-mir-601 MIRN601 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693186 ENSG00000207991 uc022bnd.1 NR_030332 MI0003614 HGNC:32857 +HGNC:32858 MIR602 microRNA 602 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-602 MIRN602 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693187 ENSG00000207693 uc022bqm.1 NR_030333 MI0003615 HGNC:32858 +HGNC:32859 MIR603 microRNA 603 non-coding RNA RNA, micro Approved 10p12.2 10p12.2 hsa-mir-603 MIRN603 MicroRNA MIR548 family 1806 2006-05-16 2008-12-18 2016-11-16 693188 ENSG00000207930 uc021poj.1 NR_030334 MI0003616 HGNC:32859 +HGNC:32860 MIR604 microRNA 604 non-coding RNA RNA, micro Approved 10p11.23 10p11.23 hsa-mir-604 MIRN604 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693189 ENSG00000207612 uc021por.1 NR_030335 MI0003617 HGNC:32860 +HGNC:32861 MIR605 microRNA 605 non-coding RNA RNA, micro Approved 10q21.1 10q21.1 hsa-mir-605 MIRN605 MicroRNAs 476 2006-05-16 2008-12-18 2019-02-13 693190 ENSG00000207813 uc021pqt.1 NR_030336 MI0003618 HGNC:32861 +HGNC:32862 MIR606 microRNA 606 non-coding RNA RNA, micro Approved 10q22.2 10q22.2 hsa-mir-606 MIRN606 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693191 ENSG00000207583 uc031wll.1 NR_030337 MI0003619 HGNC:32862 +HGNC:32863 MIR607 microRNA 607 non-coding RNA RNA, micro Approved 10q24.1 10q24.1 hsa-mir-607 MIRN607 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693192 ENSG00000207976 uc031wqa.1 NR_030338 MI0003620 HGNC:32863 +HGNC:32864 MIR608 microRNA 608 non-coding RNA RNA, micro Approved 10q24.31 10q24.31 hsa-mir-608 MIRN608 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693193 ENSG00000207551 uc021pxa.1 NR_030339 MI0003621 HGNC:32864 +HGNC:32865 MIR609 microRNA 609 non-coding RNA RNA, micro Approved 10q25.1 10q25.1 hsa-mir-609 MIRN609 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693194 ENSG00000208033 uc021pxq.1 NR_030340 MI0003622 HGNC:32865 +HGNC:32866 MIR610 microRNA 610 non-coding RNA RNA, micro Approved 11p14.1 11p14.1 hsa-mir-610 MIRN610 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693195 ENSG00000207874 uc021qfg.1 NR_030341 612330 MI0003623 HGNC:32866 +HGNC:32867 MIR611 microRNA 611 non-coding RNA RNA, micro Approved 11q12.2 11q12.2 hsa-mir-611 MIRN611 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693196 ENSG00000284108 uc021qki.1 NR_030342 MI0003624 HGNC:32867 +HGNC:32868 MIR612 microRNA 612 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-612 MIRN612 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693197 ENSG00000283791 uc058dju.1 NR_030343 MI0003625 HGNC:32868 +HGNC:32869 MIR613 microRNA 613 non-coding RNA RNA, micro Approved 12p13.1 12p13.1 hsa-mir-613 MIRN613 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693198 ENSG00000207983 uc021qvl.1 NR_030344 MI0003626 HGNC:32869 +HGNC:32870 MIR614 microRNA 614 non-coding RNA RNA, micro Approved 12p13.1 12p13.1 hsa-mir-614 MIRN614 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693199 ENSG00000283759 uc001rbb.4 NR_030345 MI0003627 HGNC:32870 +HGNC:32871 MIR615 microRNA 615 non-coding RNA RNA, micro Approved 12q13.13 12q13.13 hsa-mir-615 MIRN615 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-08 693200 ENSG00000207571 uc021qyl.1 NR_030753 "21565892|22819824" MGI:3629927 RGD:2314884 MI0003628 HGNC:32871 +HGNC:32872 MIR616 microRNA 616 non-coding RNA RNA, micro Approved 12q13.3 12q13.3 hsa-mir-616 MIRN616 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693201 ENSG00000208028 uc021qzm.3 NR_030346 614489 MI0003629 HGNC:32872 +HGNC:32873 MIR617 microRNA 617 non-coding RNA RNA, micro Approved 12q21.31 12q21.31 hsa-mir-617 MIRN617 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693202 ENSG00000207763 uc021rbb.1 NR_030348 MI0003631 HGNC:32873 +HGNC:32874 MIR618 microRNA 618 non-coding RNA RNA, micro Approved 12q21.31 12q21.31 hsa-mir-618 MIRN618 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693203 ENSG00000208022 uc021rbc.1 NR_030349 MI0003632 HGNC:32874 +HGNC:32875 MIR619 microRNA 619 non-coding RNA RNA, micro Approved 12q24.11 12q24.11 hsa-mir-619 MIRN619 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693204 ENSG00000207622 uc031zmm.1 NR_030350 MI0003633 HGNC:32875 +HGNC:32876 MIR620 microRNA 620 non-coding RNA RNA, micro Approved 12q24.21 12q24.21 hsa-mir-620 MIRN620 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693205 ENSG00000207967 uc021reh.1 NR_030351 MI0003634 HGNC:32876 +HGNC:32877 MIR621 microRNA 621 non-coding RNA RNA, micro Approved 13q14.11 13q14.11 hsa-mir-621 MIRN621 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693206 ENSG00000207652 uc021rir.1 NR_030352 MI0003635 HGNC:32877 +HGNC:32878 MIR622 microRNA 622 non-coding RNA RNA, micro Approved 13q31.3 13q31.3 hsa-mir-622 MIRN622 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693207 ENSG00000283783 uc021rld.1 NR_030754 MI0003636 HGNC:32878 +HGNC:32879 MIR623 microRNA 623 non-coding RNA RNA, micro Approved 13q32.3 13q32.3 hsa-mir-623 MIRN623 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693208 ENSG00000207719 uc021rmb.1 NR_030353 MI0003637 HGNC:32879 +HGNC:32880 MIR624 microRNA 624 non-coding RNA RNA, micro Approved 14q12 14q12 hsa-mir-624 MIRN624 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693209 ENSG00000207952 uc021rrx.1 NR_030354 MI0003638 HGNC:32880 +HGNC:32881 MIR625 microRNA 625 non-coding RNA RNA, micro Approved 14q23.3 14q23.3 hsa-mir-625 MIRN625 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693210 ENSG00000207781 uc021rux.1 NR_030355 MI0003639 HGNC:32881 +HGNC:32882 MIR626 microRNA 626 non-coding RNA RNA, micro Approved 15q15.1 15q15.1 hsa-mir-626 MIRN626 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693211 ENSG00000207766 uc021sjm.1 NR_030356 MI0003640 HGNC:32882 +HGNC:32883 MIR627 microRNA 627 non-coding RNA RNA, micro Approved 15q15.1 15q15.1 hsa-mir-627 MIRN627 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693212 ENSG00000207712 uc021sjq.1 NR_030357 MI0003641 HGNC:32883 +HGNC:32884 MIR628 microRNA 628 non-coding RNA RNA, micro Approved 15q21.3 15q21.3 hsa-mir-628 MIRN628 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-08 693213 ENSG00000283891 uc021smv.2 NR_030358 "24477576|28035362" RGD:2325480 MI0003642 HGNC:32884 +HGNC:32885 MIR629 microRNA 629 non-coding RNA RNA, micro Approved 15q23 15q23 hsa-mir-629 MIRN629 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693214 ENSG00000207965 uc021spm.1 NR_030714 MI0003643 HGNC:32885 +HGNC:32886 MIR630 microRNA 630 non-coding RNA RNA, micro Approved 15q24.1 15q24.1 hsa-mir-630 MIRN630 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693215 ENSG00000283798 uc021spw.1 NR_030359 MI0003644 HGNC:32886 +HGNC:32887 MIR631 microRNA 631 non-coding RNA RNA, micro Approved 15q24.2 15q24.2 hsa-mir-631 MIRN631 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693216 ENSG00000284343 uc021sqo.1 NR_030360 MI0003645 HGNC:32887 +HGNC:32888 MIR632 microRNA 632 non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-632 MIRN632 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693217 ENSG00000283774 uc021tuw.1 NR_030362 RGD:2325479 MI0003647 HGNC:32888 +HGNC:32889 MIR633 microRNA 633 non-coding RNA RNA, micro Approved 17q23.2 17q23.2 hsa-mir-633 MIRN633 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693218 ENSG00000207552 uc021ubj.1 NR_030363 MI0003648 HGNC:32889 +HGNC:32890 MIR634 microRNA 634 non-coding RNA RNA, micro Approved 17q24.2 17q24.2 hsa-mir-634 MIRN634 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693219 ENSG00000207943 uc021ubx.1 NR_030364 MI0003649 HGNC:32890 +HGNC:32891 MIR635 microRNA 635 non-coding RNA RNA, micro Approved 17q24.2 17q24.2 hsa-mir-635 MIRN635 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693220 ENSG00000207561 uc021ucf.1 NR_030365 MI0003650 HGNC:32891 +HGNC:32892 MIR636 microRNA 636 non-coding RNA RNA, micro Approved 17q25.1 17q25.1 hsa-mir-636 MIRN636 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693221 ENSG00000283805 uc021udo.1 NR_030366 MI0003651 HGNC:32892 +HGNC:32893 MIR637 microRNA 637 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-637 MIRN637 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693222 ENSG00000283928 uc021umy.1 NR_030367 MI0003652 HGNC:32893 +HGNC:32894 MIR638 microRNA 638 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-638 MIRN638 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693223 ENSG00000207972 uc021uoz.1 NR_030368 MI0003653 HGNC:32894 +HGNC:32895 MIR639 microRNA 639 non-coding RNA RNA, micro Approved 19p13.12 19p13.12 hsa-mir-639 MIRN639 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693224 ENSG00000283822 uc021upw.1 NR_030369 MI0003654 HGNC:32895 +HGNC:32896 MIR640 microRNA 640 non-coding RNA RNA, micro Approved 19p13.11 19p13.11 hsa-mir-640 MIRN640 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693225 ENSG00000207821 uc032hpj.1 NR_030370 MI0003655 HGNC:32896 +HGNC:32897 MIR641 microRNA 641 non-coding RNA RNA, micro Approved 19q13.2 19q13.2 hsa-mir-641 MIRN641 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693226 ENSG00000207631 uc021uur.1 NR_030371 MI0003656 HGNC:32897 +HGNC:32898 MIR642A microRNA 642a non-coding RNA RNA, micro Approved 19q13.32 19q13.32 hsa-mir-642 "MIRN642|MIR642" microRNA 642 MicroRNAs 476 2006-05-17 2010-09-13 2010-09-13 2019-02-13 693227 ENSG00000207773 uc021uvx.1 NR_030372 MI0003657 HGNC:32898 +HGNC:38902 MIR642B microRNA 642b non-coding RNA RNA, micro Approved 19q13.32 19q13.32 hsa-mir-642b MicroRNAs 476 2010-09-15 2019-02-13 100500845 ENSG00000283212 NR_037512 MI0016685 HGNC:38902 +HGNC:32899 MIR643 microRNA 643 non-coding RNA RNA, micro Approved 19q13.41 19q13.41 hsa-mir-643 MIRN643 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693228 ENSG00000208002 uc021uyt.2 NR_030373 MI0003658 HGNC:32899 +HGNC:32900 MIR644A microRNA 644a non-coding RNA RNA, micro Approved 20q11.22 20q11.22 hsa-mir-644 "MIRN644|MIR644" microRNA 644 MicroRNAs 476 2006-05-17 2011-11-14 2011-11-14 2019-02-13 693229 ENSG00000207997 uc021wcb.1 NR_030374 MI0003659 HGNC:32900 +HGNC:32901 MIR645 microRNA 645 non-coding RNA RNA, micro Approved 20q13.13 20q13.13 hsa-mir-645 MIRN645 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693230 ENSG00000208018 uc021wet.1 NR_030375 MI0003660 HGNC:32901 +HGNC:32902 MIR646 microRNA 646 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-646 MIRN646 MicroRNA MIR15/16 family 1737 2006-05-17 2008-12-18 2019-01-24 693231 ENSG00000207802 uc032poe.1 NR_030376 25010867 MI0003661 HGNC:32902 +HGNC:27659 MIR646HG MIR646 host gene non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 MIR646 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2014-06-13 2015-02-20 2015-02-20 284757 ENSG00000228340 OTTHUMG00000032883 NR_046099 MIR646HG HGNC:27659 +HGNC:32903 MIR647 microRNA 647 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-647 MIRN647 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693232 ENSG00000207554 uc021wgn.1 NR_030377 MI0003662 HGNC:32903 +HGNC:32904 MIR648 microRNA 648 non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-648 MIRN648 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693233 ENSG00000207780 uc021wks.1 NR_030378 616205 MI0003663 HGNC:32904 +HGNC:32905 MIR649 microRNA 649 non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-649 MIRN649 MicroRNAs 476 2006-05-17 2008-12-18 2019-02-13 693234 ENSG00000207575 uc021wma.1 NR_030379 MI0003664 HGNC:32905 +HGNC:32906 MIR650 microRNA 650 non-coding RNA RNA, micro Approved 22q11.22 22q11.22 hsa-mir-650 MIRN650 MicroRNAs 476 2006-05-24 2008-12-18 2019-02-13 723778 ENSG00000284049 uc062cdj.1 NR_030755 615379 MI0003665 HGNC:32906 +HGNC:32907 MIR651 microRNA 651 non-coding RNA RNA, micro Approved Xp22.31 Xp22.31 hsa-mir-651 MIRN651 MicroRNAs 476 2006-05-24 2008-12-18 2019-02-13 723779 ENSG00000207628 uc022bsi.2 NR_030380 MI0003666 HGNC:32907 +HGNC:32908 MIR652 microRNA 652 non-coding RNA RNA, micro Approved Xq23 Xq23 hsa-mir-652 MIRN652 MicroRNAs 476 2006-06-12 2008-12-18 2019-02-08 724022 ENSG00000208013 uc022cci.2 NR_030381 "22412969|25145628" MGI:3624350 RGD:2325439 MI0003667 HGNC:32908 +HGNC:32909 MIR653 microRNA 653 non-coding RNA RNA, micro Approved 7q21.3 07q21.3 hsa-mir-653 MIRN653 MicroRNAs 476 2006-06-12 2008-12-18 2019-02-08 724023 ENSG00000208014 uc022ahj.1 NR_030388 30703767 MGI:3718555 RGD:2314881 MI0003674 HGNC:32909 +HGNC:32910 MIR654 microRNA 654 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-654 MIRN654 MicroRNAs 476 2006-06-12 2008-12-18 2019-01-31 724024 ENSG00000207934 uc021sda.1 NR_030390 MGI:3718556 MI0003676 HGNC:32910 +HGNC:32911 MIR655 microRNA 655 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-655 MIRN655 MicroRNA MIR154 family 1769 2006-06-12 2008-12-18 2014-11-19 724025 ENSG00000207646 uc021sdj.1 NR_030391 MI0003677 HGNC:32911 +HGNC:32912 MIR656 microRNA 656 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-656 MIRN656 MicroRNA MIR154 family 1769 2006-06-12 2008-12-18 2014-11-19 724026 ENSG00000207959 uc021sdv.1 NR_030392 RGD:4888593 616376 MI0003678 HGNC:32912 +HGNC:32913 MIR657 microRNA 657 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-657 MIRN657 MicroRNAs 476 2006-06-12 2008-12-18 2019-02-13 724027 ENSG00000207736 uc021uev.1 NR_030394 MI0003681 HGNC:32913 +HGNC:32914 MIR658 microRNA 658 non-coding RNA RNA, micro Approved 22q13.1 22q13.1 hsa-mir-658 MIRN658 MicroRNAs 476 2006-06-12 2008-12-18 2019-02-13 724028 ENSG00000284197 uc021wpj.1 NR_030395 MI0003682 HGNC:32914 +HGNC:32915 MIR659 microRNA 659 non-coding RNA RNA, micro Approved 22q13.1 22q13.1 hsa-mir-659 MIRN659 MicroRNAs 476 2006-06-12 2008-12-18 2019-02-13 724029 ENSG00000207696 uc021wpk.1 NR_030396 613556 MI0003683 HGNC:32915 +HGNC:32916 MIR660 microRNA 660 non-coding RNA RNA, micro Approved Xp11.23 Xp11.23 hsa-mir-660 MIRN660 MicroRNA MIR188/532 family 1805 2006-06-12 2008-12-18 2014-11-19 724030 ENSG00000207970 uc022bwk.2 NR_030397 MI0003684 HGNC:32916 +HGNC:32917 MIR661 microRNA 661 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-661 MIRN661 MicroRNAs 476 2006-06-12 2008-12-18 2019-02-13 724031 ENSG00000207574 uc022bcl.1 NR_030383 613716 MI0003669 HGNC:32917 +HGNC:32918 MIR662 microRNA 662 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-662 MIRN662 MicroRNAs 476 2006-06-12 2008-12-18 2019-02-13 724032 ENSG00000207579 uc021tac.1 NR_030384 MI0003670 HGNC:32918 +HGNC:32919 MIR663A microRNA 663a non-coding RNA RNA, micro Approved 20p11.1 20p11.1 "hsa-mir-663|miR-663a" "MIRN663|MIR663" microRNA 663 MicroRNA MIR663 family 1807 2006-06-12 2011-11-14 2011-11-14 2018-12-11 724033 ENSG00000284419 uc021wbn.1 NR_030386 MI0003672 HGNC:32919 +HGNC:27662 MIR663AHG MIR663A host gene non-coding RNA RNA, long non-coding Approved 20p11.1 20p11.1 RP3-410C9.1 MIR663A host gene (non-protein coding) MicroRNA non-coding host genes 1688 2014-06-12 2015-02-20 2015-02-20 284801 ENSG00000227195 OTTHUMG00000032149 NR_040095 24932682 MIR663AHG HGNC:27662 +HGNC:35270 MIR663B microRNA 663b non-coding RNA RNA, micro Approved 2q21.2 02q21.2 hsa-mir-663b MIRN663B MicroRNA MIR663 family 1807 2008-11-03 2008-12-18 2016-11-16 100313824 ENSG00000221288 uc021vpu.1 NR_031608 MI0006336 HGNC:35270 +HGNC:35370 MIR664A microRNA 664a non-coding RNA RNA, micro Approved 1q41 01q41 hsa-mir-664 "MIRN664|MIR664" microRNA 664 MicroRNA MIR664 family 1809 2008-11-03 2014-03-17 2014-03-17 2016-11-16 100302234 ENSG00000281696 NR_031705 MI0006442 HGNC:35370 +HGNC:43501 MIR664B microRNA 664b non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-664b MIR644B microRNA 644b MicroRNA MIR664 family 1809 2011-11-14 2014-03-17 2014-03-17 2019-02-15 100847052 ENSG00000284450 NR_049842 MGI:4358947 MI0019134 HGNC:43501 +HGNC:33662 MIR665 microRNA 665 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-665 MIRN665 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-15 100126315 ENSG00000283159 NR_030617 MGI:3629896 RGD:2325437 MI0005563 HGNC:33662 +HGNC:33135 MIR668 microRNA 668 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-668 MIRN668 MicroRNAs 476 2006-10-10 2008-12-18 2019-02-15 768214 ENSG00000276352 NR_030408 MGI:3629905 MI0003761 HGNC:33135 +HGNC:37304 MIR670 microRNA 670 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-670 MicroRNAs 476 2009-09-18 2019-02-08 100313777 ENSG00000211568 uc021qgk.1 NR_031577 MGI:3629629 MI0003933 HGNC:37304 +HGNC:49204 MIR670HG MIR670 host gene non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 MIR670 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2013-10-08 2015-02-20 2019-05-09 100507261 ENSG00000235661 OTTHUMG00000154881 NR_131246 MGI:3041234 HGNC:49204 +HGNC:33134 MIR671 microRNA 671 non-coding RNA RNA, micro Approved 7q36.1 07q36.1 hsa-mir-671 MIRN671 MicroRNAs 476 2006-10-10 2008-12-18 2019-02-08 768213 ENSG00000284191 uc022aqb.1 NR_030407 29355560 MGI:3629656 RGD:2325494 615245 MI0003760 HGNC:33134 +HGNC:33351 MIR675 microRNA 675 non-coding RNA RNA, micro Approved 11p15.5 11p15.5 hsa-mir-675 MIRN675 MicroRNAs 476 2007-02-16 2008-12-18 2019-02-08 100033819 ENSG00000284010 uc057xwb.1 NR_030533 "19926638|24532688" MGI:3629709 RGD:2314883 615509 MI0005416 HGNC:33351 +HGNC:38880 MIR676 microRNA 676 non-coding RNA RNA, micro Approved Xq13.1 Xq13.1 hsa-mir-676 MicroRNAs 476 2010-09-15 2019-02-08 100500887 ENSG00000211991 NR_037494 22164278 MGI:3629957 RGD:9685079 MI0016436 HGNC:38880 +HGNC:33654 MIR708 microRNA 708 non-coding RNA RNA, micro Approved 11q14.1 11q14.1 hsa-mir-708 MIRN708 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-15 100126333 ENSG00000211997 uc021qoc.1 NR_030598 MGI:3629686 RGD:2325357 MI0005543 HGNC:33654 +HGNC:37316 MIR711 microRNA 711 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-711 MicroRNAs 476 2009-09-18 2019-02-15 100313843 ENSG00000284251 uc021wxp.1 NR_031756 MGI:3629883 RGD:2325468 MI0012488 HGNC:37316 +HGNC:37317 MIR718 microRNA 718 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-718 MicroRNAs 476 2009-09-18 2019-02-15 100313781 ENSG00000284286 uc022cid.2 NR_031757 MGI:3629956 300929 MI0012489 HGNC:37317 +HGNC:33658 MIR744 microRNA 744 non-coding RNA RNA, micro Approved 17p12 17p12 hsa-mir-744 MIRN744 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-08 100126313 ENSG00000266297 uc021tqg.1 NR_030613 "21991303|23695020" MGI:3691603 MI0005559 HGNC:33658 +HGNC:33133 MIR758 microRNA 758 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-758 MIRN758 MicroRNA MIR379 family 1770 2006-10-10 2008-12-18 2019-01-31 768212 ENSG00000211582 uc021scp.1 NR_030406 MGI:3691604 MI0003757 HGNC:33133 +HGNC:37307 MIR759 microRNA 759 non-coding RNA RNA, micro Approved 13q14.3 13q14.3 hsa-mir-759 MicroRNAs 476 2009-09-18 2019-02-15 100313778 ENSG00000211579 uc021rjz.2 NR_031582 MGI:3691612 MI0004065 HGNC:37307 +HGNC:33666 MIR760 microRNA 760 non-coding RNA RNA, micro Approved 1p22.1 01p22.1 hsa-mir-760 MIRN760 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-08 100126348 ENSG00000211575 uc021oqa.2 NR_030621 "22970209|25661353" MGI:3691613 RGD:2325489 MI0005567 HGNC:33666 +HGNC:37305 MIR761 microRNA 761 non-coding RNA RNA, micro Approved 1p32.3 01p32.3 hsa-mir-761 MicroRNAs 476 2009-09-18 2019-02-15 100313892 ENSG00000283899 uc021onj.2 NR_031580 MGI:3691609 RGD:2325411 MI0003941 HGNC:37305 +HGNC:37303 MIR762 microRNA 762 non-coding RNA RNA, micro Approved 16p11.2 16p11.2 hsa-mir-762 MicroRNAs 476 2009-09-18 2019-02-15 100313837 ENSG00000211591 uc021tgs.1 NR_031576 MGI:3691607 MI0003892 HGNC:37303 +HGNC:51386 MIR762HG MIR762 host gene non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 MIR762 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2014-10-23 2015-02-20 2015-02-20 101928736 ENSG00000260083 OTTHUMG00000176766 NR_110940 MIR762HG HGNC:51386 +HGNC:37306 MIR764 microRNA 764 non-coding RNA RNA, micro Approved Xq23 Xq23 hsa-mir-764 MicroRNAs 476 2009-09-18 2019-01-31 100313838 ENSG00000212100 uc022ccw.1 NR_031581 30318119 MGI:3691610 RGD:2325352 MI0003944 HGNC:37306 +HGNC:33141 MIR765 microRNA 765 non-coding RNA RNA, micro Approved 1q23.1 01q23.1 hsa-mir-765 MIRN765 MicroRNAs 476 2006-10-10 2008-12-18 2014-11-19 768220 ENSG00000211581 uc021pbj.1 NR_030527 MI0005116 HGNC:33141 +HGNC:33139 MIR766 microRNA 766 non-coding RNA RNA, micro Approved Xq24 Xq24 hsa-mir-766 MIRN766 MicroRNAs 476 2006-10-10 2008-12-18 2014-11-19 768218 ENSG00000211578 uc022cdl.2 NR_030413 301062 MI0003836 HGNC:33139 +HGNC:33136 MIR767 microRNA 767 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-767 MIRN767 MicroRNAs 476 2006-10-10 2008-12-18 2006-10-10 2019-02-15 768215 ENSG00000211583 uc022chd.2 NR_030409 MGI:4358946 MI0003763 HGNC:33136 +HGNC:33138 MIR769 microRNA 769 non-coding RNA RNA, micro Approved 19q13.32 19q13.32 hsa-mir-769 MIRN769 MicroRNAs 476 2006-10-10 2008-12-18 2019-02-15 768217 ENSG00000211580 uc021uwe.1 NR_030412 "25081069|27470346" MI0003834 HGNC:33138 +HGNC:33143 MIR770 microRNA 770 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-770 MIRN770 MicroRNAs 476 2006-10-10 2008-12-18 2019-02-08 768222 ENSG00000211574 uc021sbz.1 NR_030528 "26602384|28333152" MGI:3691606 RGD:2325415 MI0005118 HGNC:33143 +HGNC:33140 MIR802 microRNA 802 non-coding RNA RNA, micro Approved 21q22.12 21q22.12 hsa-mir-802 MIRN802 MicroRNAs 476 2006-10-10 2008-12-18 2019-02-01 768219 ENSG00000211590 uc021wix.1 NR_030414 MGI:3691608 RGD:2325478 616090 MI0003906 HGNC:33140 +HGNC:33663 MIR873 microRNA 873 non-coding RNA RNA, micro Approved 9p21.1 09p21.1 hsa-mir-873 MIRN873 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-08 100126316 ENSG00000215939 uc022bfe.2 NR_030618 "25183005|27258785" MGI:3718563 RGD:2325356 616137 MI0005564 HGNC:33663 +HGNC:33643 MIR874 microRNA 874 non-coding RNA RNA, micro Approved 5q31.2 05q31.2 hsa-mir-874 MIRN874 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-08 100126343 ENSG00000216009 uc021ydz.2 NR_030588 "23828572|24462679" MGI:3718564 RGD:2325511 619450 MI0005532 HGNC:33643 +HGNC:33652 MIR875 microRNA 875 non-coding RNA RNA, micro Approved 8q22.2 08q22.2 hsa-mir-875 MIRN875 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-08 100126309 ENSG00000216069 uc022aze.1 NR_030596 "25913515|30205176" MGI:3718565 RGD:2325477 MI0005541 HGNC:33652 +HGNC:33653 MIR876 microRNA 876 non-coding RNA RNA, micro Approved 9p21.1 09p21.1 hsa-mir-876 MIRN876 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-08 100126310 ENSG00000215966 uc022bfd.1 NR_030597 "25680557|29229885" MGI:3718566 RGD:2325412 MI0005542 HGNC:33653 +HGNC:33660 MIR877 microRNA 877 non-coding RNA RNA, micro Approved 6p21.33 06p21.33 hsa-mir-877 MIRN877 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-15 100126314 ENSG00000216101 uc021yud.2 NR_030615 MGI:3718567 RGD:2325510 611619 MI0005561 HGNC:33660 +HGNC:33659 MIR885 microRNA 885 non-coding RNA RNA, micro Approved 3p25.3 03p25.3 hsa-mir-885 MIRN885 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-15 100126334 ENSG00000216135 uc021wta.2 NR_030614 29241179 MI0005560 HGNC:33659 +HGNC:33661 MIR887 microRNA 887 non-coding RNA RNA, micro Approved 5p15.1 05p15.1 hsa-mir-887 MIRN887 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-19 100126347 ENSG00000216077 uc021xwr.2 NR_030616 MI0005562 HGNC:33661 +HGNC:33648 MIR888 microRNA 888 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-888 MIRN888 MicroRNA MIR888 family 1796 2007-10-24 2008-12-18 2014-11-18 100126306 ENSG00000216005 uc022cfp.1 NR_030592 MI0005537 HGNC:33648 +HGNC:33651 MIR889 microRNA 889 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-889 MIRN889 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-15 100126345 ENSG00000216099 uc021sdh.2 NR_030595 MI0005540 HGNC:33651 +HGNC:33644 MIR890 microRNA 890 non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-890 MIRN890 MicroRNA MIR888 family 1796 2007-10-24 2008-12-18 2014-11-18 100126303 ENSG00000216075 uc022cfo.1 NR_030589 MI0005533 HGNC:33644 +HGNC:33635 MIR891A microRNA 891a non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-891a MIRN891A MicroRNA MIR891 family 1798 2007-10-24 2008-12-18 2014-11-19 100126341 ENSG00000216056 uc022cft.1 NR_030581 MI0005524 HGNC:33635 +HGNC:33645 MIR891B microRNA 891b non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-891b MIRN891B MicroRNA MIR891 family 1798 2007-10-24 2008-12-18 2014-11-18 100126304 ENSG00000216064 uc022cfs.1 NR_030590 MI0005534 HGNC:33645 +HGNC:33639 MIR892A microRNA 892a non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-892a MIRN892A MicroRNA MIR888 family 1796 2007-10-24 2008-12-18 2014-11-19 100126342 ENSG00000215943 uc022cfq.1 NR_030584 MI0005528 HGNC:33639 +HGNC:33649 MIR892B microRNA 892b non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-892b MIRN892B MicroRNA MIR888 family 1796 2007-10-24 2008-12-18 2014-11-18 100126307 ENSG00000216098 uc022cfr.1 NR_030593 MI0005538 HGNC:33649 +HGNC:50194 MIR892C microRNA 892c non-coding RNA RNA, micro Approved Xq27.3 Xq27.3 hsa-mir-892c MicroRNA MIR888 family 1796 2014-03-24 2016-11-16 102466721 ENSG00000252219 NR_106783 MI0022560 HGNC:50194 +HGNC:33670 MIR920 microRNA 920 non-coding RNA RNA, micro Approved 12p12.1 12p12.1 hsa-mir-920 MIRN920 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-18 100126320 ENSG00000216192 uc021qwc.1 NR_030625 MI0005712 HGNC:33670 +HGNC:33671 MIR921 microRNA 921 non-coding RNA RNA, micro Approved 1q24.1 01q24.1 hsa-mir-921 MIRN921 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-19 100126349 ENSG00000215952 uc021peg.1 NR_030626 MI0005713 HGNC:33671 +HGNC:33672 MIR922 microRNA 922 non-coding RNA RNA, micro Approved 3q29 03q29 hsa-mir-922 MIRN922 MicroRNAs 476 2007-10-24 2008-12-18 2018-02-06 100126321 ENSG00000284146 uc021xjw.1 NR_030627 MI0005714 HGNC:33672 +HGNC:33674 MIR924 microRNA 924 non-coding RNA RNA, micro Approved 18q12.3 18q12.3 hsa-mir-924 MIRN924 MicroRNAs 476 2007-10-24 2008-12-18 2011-09-12 100126323 ENSG00000283615 NR_030628 MI0005716 HGNC:33674 +HGNC:44332 MIR924HG MIR924 host gene non-coding RNA RNA, long non-coding Approved 18q12.2-q12.3 18q12.2-q12.3 LINC00669 long intergenic non-protein coding RNA 669 MicroRNA non-coding host genes 1688 2012-08-13 2015-10-15 2015-10-15 2016-11-16 647946 ENSG00000267374 "AK090603|BG220862|DB038664" NR_024391 MIR924HG HGNC:44332 +HGNC:33676 MIR933 microRNA 933 non-coding RNA RNA, micro Approved 2q31.1 02q31.1 hsa-mir-933 MIRN933 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-18 100126350 ENSG00000215973 uc021vso.1 NR_030630 MI0005755 HGNC:33676 +HGNC:33677 MIR934 microRNA 934 non-coding RNA RNA, micro Approved Xq26.3 Xq26.3 hsa-mir-934 MIRN934 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-18 100126324 ENSG00000216060 uc022cev.1 NR_030631 MI0005756 HGNC:33677 +HGNC:33678 MIR935 microRNA 935 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-935 MIRN935 MicroRNAs 476 2007-10-24 2008-12-18 2019-02-08 100126325 ENSG00000284583 uc021vbd.1 NR_030632 "26742429|27044823" MI0005757 HGNC:33678 +HGNC:33679 MIR936 microRNA 936 non-coding RNA RNA, micro Approved 10q25.1 10q25.1 hsa-mir-936 MIRN936 MicroRNAs 476 2007-10-24 2008-12-18 2018-02-06 100126326 ENSG00000283788 uc021pxp.1 NR_030760 MI0005758 HGNC:33679 +HGNC:33680 MIR937 microRNA 937 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-937 MIRN937 MicroRNAs 476 2007-10-24 2008-12-18 2018-08-17 100126338 ENSG00000284224 uc022bck.1 NR_030633 MI0005759 HGNC:33680 +HGNC:33681 MIR938 microRNA 938 non-coding RNA RNA, micro Approved 10p11.23 10p11.23 hsa-mir-938 MIRN938 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-19 100126327 ENSG00000216035 uc021pos.1 NR_030634 MI0005760 HGNC:33681 +HGNC:33682 MIR939 microRNA 939 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-939 MIRN939 MicroRNAs 476 2007-10-24 2008-12-18 2018-08-17 100126351 ENSG00000284310 uc022bcn.1 NR_030635 MI0005761 HGNC:33682 +HGNC:33683 MIR940 microRNA 940 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-940 MIRN940 MicroRNAs 476 2007-10-24 2008-12-18 2016-10-10 100126328 ENSG00000284346 uc059plp.1 NR_030636 MI0005762 HGNC:33683 +HGNC:33684 MIR941-1 microRNA 941-1 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-941-1 MIRN941-1 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-19 100126329 ENSG00000283206 uc061yqg.1 NR_030637 MI0005763 HGNC:33684 +HGNC:33685 MIR941-2 microRNA 941-2 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-941-2 MIRN941-2 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-19 100126339 ENSG00000216141 NR_030638 MI0005764 HGNC:33685 +HGNC:33686 MIR941-3 microRNA 941-3 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-941-3 MIRN941-3 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-19 100126352 ENSG00000283513 uc061yqd.1 NR_030639 MI0005765 HGNC:33686 +HGNC:33687 MIR941-4 microRNA 941-4 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-941-4 MIRN941-4 MicroRNAs 476 2007-10-24 2009-03-19 2011-09-12 100126330 ENSG00000216195 uc021wgl.2 NR_040032 MI0005766 HGNC:33687 +HGNC:50845 MIR941-5 microRNA 941-5 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 MicroRNAs 476 2014-06-26 2016-11-16 103504732 ENSG00000275842 NR_128719 MI0031520 HGNC:50845 +HGNC:33688 MIR942 microRNA 942 non-coding RNA RNA, micro Approved 1p13.1 01p13.1 hsa-mir-942 MIRN942 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-19 100126331 ENSG00000215930 uc021osm.1 NR_030640 MI0005767 HGNC:33688 +HGNC:33689 MIR943 microRNA 943 non-coding RNA RNA, micro Approved 4p16.3 04p16.3 hsa-mir-943 MIRN943 MicroRNAs 476 2007-10-24 2008-12-18 2018-08-17 100126332 ENSG00000284587 uc021xkm.1 NR_030641 MI0005768 HGNC:33689 +HGNC:33690 MIR944 microRNA 944 non-coding RNA RNA, micro Approved 3q28 03q28 hsa-mir-944 MIRN944 MicroRNAs 476 2007-10-24 2008-12-18 2014-11-19 100126340 ENSG00000216058 uc021xis.1 NR_030642 MI0005769 HGNC:33690 +HGNC:35259 MIR1178 microRNA 1178 non-coding RNA RNA, micro Approved 12q24.23 12q24.23 hsa-mir-1178 MIRN1178 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302274 ENSG00000283768 uc021rer.1 NR_031589 MI0006271 HGNC:35259 +HGNC:35260 MIR1179 microRNA 1179 non-coding RNA RNA, micro Approved 15q26.1 15q26.1 hsa-mir-1179 MIRN1179 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-15 100302235 ENSG00000221630 uc021suc.2 NR_031590 MGI:3783366 MI0006272 HGNC:35260 +HGNC:35261 MIR1180 microRNA 1180 non-coding RNA RNA, micro Approved 17p11.2 17p11.2 hsa-mir-1180 MIRN1180 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302256 ENSG00000221540 uc021trz.1 NR_031591 MI0006273 HGNC:35261 +HGNC:35262 MIR1181 microRNA 1181 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-1181 MIRN1181 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302213 ENSG00000284268 uc021uov.1 NR_031592 MI0006274 HGNC:35262 +HGNC:35263 MIR1182 microRNA 1182 non-coding RNA RNA, micro Approved 1q42.2 01q42.2 hsa-mir-1182 MIRN1182 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302132 ENSG00000283799 uc021pkk.1 NR_031593 MI0006275 HGNC:35263 +HGNC:35264 MIR1183 microRNA 1183 non-coding RNA RNA, micro Approved 7p15.3 07p15.3 hsa-mir-1183 MIRN1183 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302122 ENSG00000221783 uc022aal.1 NR_031594 MI0006276 HGNC:35264 +HGNC:35265 MIR1184-1 microRNA 1184-1 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-1184 "MIRN1184|MIR1184" microRNA 1184 MicroRNA MIR1184 family 1859 2008-11-03 2010-09-13 2010-09-13 2014-11-19 100302111 ENSG00000221533 uc022cil.1 NR_036049 MI0006277 HGNC:35265 +HGNC:38211 MIR1184-2 microRNA 1184-2 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-1184-2 MicroRNA MIR1184 family 1859 2010-04-30 2016-11-16 100422985 ENSG00000221190 uc022cim.1 NR_036259 MI0015971 HGNC:38211 +HGNC:38389 MIR1184-3 microRNA 1184-3 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-1184-3 MicroRNA MIR1184 family 1859 2010-04-30 2016-11-16 100422977 ENSG00000221603 uc022cin.1 NR_036260 MI0015972 HGNC:38389 +HGNC:35257 MIR1185-1 microRNA 1185-1 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-1185-1 MIRN1185-1 MicroRNA MIR154 family 1769 2008-11-03 2008-12-18 2016-11-16 100302157 ENSG00000221525 uc021sdd.2 NR_031575 MI0003844 HGNC:35257 +HGNC:35254 MIR1185-2 microRNA 1185-2 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-1185-2 MIRN1185-2 MicroRNA MIR154 family 1769 2008-11-03 2008-12-18 2016-11-16 100302209 ENSG00000221614 uc021sde.2 NR_031571 MI0003821 HGNC:35254 +HGNC:38247 MIR1193 microRNA 1193 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-1193 MicroRNAs 476 2010-04-30 2016-11-16 100422837 ENSG00000221036 uc021scs.2 NR_036132 MI0014205 HGNC:38247 +HGNC:35376 MIR1197 microRNA 1197 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-1197 MIRN1197 MicroRNA MIR379 family 1770 2008-11-03 2008-12-18 2019-01-31 100302250 ENSG00000221745 uc021sco.2 NR_031713 MGI:3783370 MI0006656 HGNC:35376 +HGNC:50081 MIR1199 microRNA 1199 non-coding RNA RNA, micro Approved 19p13.12 19p13.12 hsa-mir-1199 MicroRNAs 476 2014-03-24 2019-02-15 102466515 ENSG00000284081 NR_106715 MGI:3783372 MI0020340 HGNC:50081 +HGNC:35266 MIR1200 microRNA 1200 non-coding RNA RNA, micro Approved 7p14.2 07p14.2 hsa-mir-1200 MIRN1200 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-18 100302113 ENSG00000221325 uc022abw.1 NR_031604 MI0006332 HGNC:35266 +HGNC:35268 MIR1202 microRNA 1202 non-coding RNA RNA, micro Approved 6q25.3 06q25.3 hsa-mir-1202 MIRN1202 MicroRNAs 476 2008-11-03 2008-12-18 2019-01-18 100302259 ENSG00000221456 uc032xqq.1 NR_031606 MI0006334 HGNC:35268 +HGNC:35269 MIR1203 microRNA 1203 non-coding RNA RNA, micro Approved 17q21.32 17q21.32 hsa-mir-1203 MIRN1203 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302211 ENSG00000221739 uc021tze.1 NR_031607 MI0006335 HGNC:35269 +HGNC:37059 MIR1204 microRNA 1204 non-coding RNA RNA, micro Approved 8q24.21 08q24.21 hsa-mir-1204 MicroRNAs 476 2009-04-06 2018-08-17 100302185 ENSG00000283710 uc022bbf.1 NR_031609 MI0006337 HGNC:37059 +HGNC:35271 MIR1205 microRNA 1205 non-coding RNA RNA, micro Approved 8q24.21 08q24.21 hsa-mir-1205 MIRN1205 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302161 ENSG00000221771 uc022bbg.1 NR_031610 MI0006338 HGNC:35271 +HGNC:35272 MIR1206 microRNA 1206 non-coding RNA RNA, micro Approved 8q24.21 08q24.21 hsa-mir-1206 MIRN1206 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302170 ENSG00000283200 NR_031611 MI0006339 HGNC:35272 +HGNC:35273 MIR1207 microRNA 1207 non-coding RNA RNA, micro Approved 8q24.21 08q24.21 hsa-mir-1207 MIRN1207 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302175 ENSG00000221176 uc022bbj.1 NR_031612 MI0006340 HGNC:35273 +HGNC:35274 MIR1208 microRNA 1208 non-coding RNA RNA, micro Approved 8q24.21 08q24.21 hsa-mir-1208 MIRN1208 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-18 100302281 ENSG00000221261 uc022bbk.1 NR_031613 MI0006341 HGNC:35274 +HGNC:33923 MIR1224 microRNA 1224 non-coding RNA RNA, micro Approved 3q27.1 03q27.1 hsa-mir-1224 MIRN1224 MicroRNAs 476 2008-01-07 2008-12-18 2019-02-15 100187716 ENSG00000221120 uc021xih.1 NR_030410 MGI:3764925 RGD:2325484 611620 MI0003764 HGNC:33923 +HGNC:33931 MIR1225 microRNA 1225 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-1225 MIRN1225 MicroRNAs 476 2008-01-07 2008-12-18 2019-02-15 100188847 ENSG00000221656 uc021tap.1 NR_030646 611621 MI0006311 HGNC:33931 +HGNC:33922 MIR1226 microRNA 1226 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-1226 MIRN1226 MicroRNAs 476 2008-01-07 2008-12-18 2014-11-19 100302232 ENSG00000221585 uc021wxj.1 NR_031595 MI0006313 HGNC:33922 +HGNC:33932 MIR1227 microRNA 1227 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-1227 MIRN1227 MicroRNAs 476 2008-01-07 2008-12-18 2016-11-16 100302283 ENSG00000221411 uc021umq.1 NR_031596 MI0006316 HGNC:33932 +HGNC:33928 MIR1228 microRNA 1228 non-coding RNA RNA, micro Approved 12q13.3 12q13.3 hsa-mir-1228 MIRN1228 MicroRNAs 476 2008-01-07 2008-12-18 2016-11-16 100302201 ENSG00000221365 uc021qzh.1 NR_031597 MI0006318 HGNC:33928 +HGNC:33924 MIR1229 microRNA 1229 non-coding RNA RNA, micro Approved 5q35.3 05q35.3 hsa-mir-1229 MIRN1229 MicroRNAs 476 2008-01-07 2008-12-18 2016-11-16 100302156 ENSG00000221394 uc021yjg.1 NR_031598 MI0006319 HGNC:33924 +HGNC:33921 MIR1231 microRNA 1231 non-coding RNA RNA, micro Approved 1q32.1 01q32.1 hsa-mir-1231 MIRN1231 MicroRNAs 476 2008-01-07 2008-12-18 2019-02-15 100302158 ENSG00000221028 uc021phj.1 NR_031599 MGI:5453497 617040 MI0006321 HGNC:33921 +HGNC:33929 MIR1233-1 microRNA 1233-1 non-coding RNA RNA, micro Approved 15q14 15q14 hsa-mir-1233 "MIRN1233|MIR1233" microRNA 1233 "MicroRNAs|MicroRNA MIR1233 family" "476|1860" 2008-01-07 2010-09-13 2010-09-13 2016-11-16 100302160 ENSG00000221649 uc021sit.1 NR_036050 MI0006323 HGNC:33929 +HGNC:38277 MIR1233-2 microRNA 1233-2 non-coding RNA RNA, micro Approved 15q14 15q14 hsa-mir-1233-2 "MicroRNAs|MicroRNA MIR1233 family" "476|1860" 2010-04-30 2016-11-16 100422845 ENSG00000221065 uc021six.1 NR_036261 MI0015973 HGNC:38277 +HGNC:33926 MIR1234 microRNA 1234 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-1234 MIRN1234 MicroRNAs 476 2008-01-07 2008-12-18 2016-11-16 100302196 ENSG00000284139 uc064rmc.1 NR_031600 MI0006324 HGNC:33926 +HGNC:33925 MIR1236 microRNA 1236 non-coding RNA RNA, micro Approved 6p21.33 06p21.33 hsa-mir-1236 MIRN1236 MicroRNAs 476 2008-01-07 2008-12-18 2018-02-06 100302242 ENSG00000284446 uc021yvc.1 NR_031601 MI0006326 HGNC:33925 +HGNC:33927 MIR1237 microRNA 1237 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-1237 MIRN1237 MicroRNAs 476 2008-01-07 2008-12-18 2016-11-16 100302280 ENSG00000221273 uc021qkv.1 NR_031602 MI0006327 HGNC:33927 +HGNC:33933 MIR1238 microRNA 1238 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-1238 MIRN1238 MicroRNAs 476 2008-01-07 2008-12-18 2016-11-16 100302226 ENSG00000221410 uc021uoy.1 NR_031603 MI0006328 HGNC:33933 +HGNC:35304 MIR1243 microRNA 1243 non-coding RNA RNA, micro Approved 4q25 04q25 hsa-mir-1243 MIRN1243 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302188 ENSG00000283193 NR_031641 MI0006373 HGNC:35304 +HGNC:35310 MIR1244-1 microRNA 1244-1 non-coding RNA RNA, micro Approved 2q37.1 02q37.1 hsa-mir-1244 "MIRN1244|MIR1244" microRNA 1244 MicroRNA MIR1244 family 1861 2008-11-03 2010-09-13 2010-09-13 2015-07-30 100302285 ENSG00000284378 NR_036052 MI0006379 HGNC:35310 +HGNC:38321 MIR1244-2 microRNA 1244-2 non-coding RNA RNA, micro Approved 5q23.1 05q23.1 hsa-mir-1244-2 MicroRNA MIR1244 family 1861 2010-04-30 2015-07-30 100422885 ENSG00000283498 NR_036262 MI0015974 HGNC:38321 +HGNC:38390 MIR1244-3 microRNA 1244-3 non-coding RNA RNA, micro Approved 12p13.31 12p13.31 hsa-mir-1244-3 MicroRNA MIR1244 family 1861 2010-04-30 2015-07-30 100422872 ENSG00000283429 NR_036263 MI0015975 HGNC:38390 +HGNC:50831 MIR1244-4 microRNA 1244-4 non-coding RNA RNA, micro Approved 12p13.2 12p13.2 MicroRNA MIR1244 family 1861 2014-06-26 2016-11-16 103504734 ENSG00000283475 NR_128710 MI0031511 HGNC:50831 +HGNC:35311 MIR1245A microRNA 1245a non-coding RNA RNA, micro Approved 2q32.2 02q32.2 hsa-mir-1245 "MIRN1245|MIR1245" microRNA 1245 MicroRNAs 476 2008-11-03 2011-11-14 2011-11-14 2014-11-19 100302219 ENSG00000221502 uc021vtv.2 NR_031647 MI0006380 HGNC:35311 +HGNC:41794 MIR1245B microRNA 1245b non-coding RNA RNA, micro Approved 2q32.2 02q32.2 hsa-mir-1245b MicroRNAs 476 2011-05-02 2016-11-16 100616324 ENSG00000283238 NR_039947 MI0017431 HGNC:41794 +HGNC:35312 MIR1246 microRNA 1246 non-coding RNA RNA, micro Approved 2q31.1 02q31.1 hsa-mir-1246 MIRN1246 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-18 100302142 ENSG00000283203 NR_031648 MI0006381 HGNC:35312 +HGNC:35313 MIR1247 microRNA 1247 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-1247 MIRN1247 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-08 100302145 ENSG00000283857 uc021sdw.1 NR_031649 24014021 MGI:4834215 MI0006382 HGNC:35313 +HGNC:35314 MIR1248 microRNA 1248 non-coding RNA RNA, micro Approved 3q27.3 03q27.3 hsa-mir-1248 MIRN1248 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-15 100302143 ENSG00000283958 uc062rfa.1 NR_031650 MI0006383 HGNC:35314 +HGNC:35315 MIR1249 microRNA 1249 non-coding RNA RNA, micro Approved 22q13.31 22q13.31 hsa-mir-1249 MIRN1249 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-08 100302149 ENSG00000221598 uc021wrh.2 NR_031651 25731699 MGI:4834217 RGD:4888573 MI0006384 HGNC:35315 +HGNC:35316 MIR1250 microRNA 1250 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-1250 MIRN1250 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302229 ENSG00000221025 uc021uex.1 NR_031652 MI0006385 HGNC:35316 +HGNC:35317 MIR1251 microRNA 1251 non-coding RNA RNA, micro Approved 12q23.1 12q23.1 hsa-mir-1251 MIRN1251 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-13 100302289 ENSG00000221479 uc021rcf.2 NR_031653 MGI:4834231 MI0006386 HGNC:35317 +HGNC:35365 MIR1252 microRNA 1252 non-coding RNA RNA, micro Approved 12q21.2 12q21.2 hsa-mir-1252 MIRN1252 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302136 ENSG00000221788 uc021ray.1 NR_031700 MI0006434 HGNC:35365 +HGNC:35318 MIR1253 microRNA 1253 non-coding RNA RNA, micro Approved 17p13.3 17p13.3 hsa-mir-1253 MIRN1253 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302208 ENSG00000221200 OTTHUMG00000185966 uc021tnr.1 NR_031654 MI0006387 HGNC:35318 +HGNC:35320 MIR1255A microRNA 1255a non-coding RNA RNA, micro Approved 4q24 04q24 hsa-mir-1255a MIRN1255A MicroRNA MIR1255 family 1810 2008-11-03 2008-12-18 2016-11-16 100302193 ENSG00000221265 uc032trr.1 NR_031656 MI0006389 HGNC:35320 +HGNC:35366 MIR1255B1 microRNA 1255b-1 non-coding RNA RNA, micro Approved 4p14 04p14 hsa-mir-1255b-1 MIRN1255B1 MicroRNA MIR1255 family 1810 2008-11-03 2008-12-18 2016-11-16 100313806 ENSG00000283207 NR_031701 MI0006435 HGNC:35366 +HGNC:35367 MIR1255B2 microRNA 1255b-2 non-coding RNA RNA, micro Approved 1q24.2 01q24.2 hsa-mir-1255b-2 MIRN1255B2 MicroRNA MIR1255 family 1810 2008-11-03 2008-12-18 2016-11-16 100313835 ENSG00000221545 uc031vdn.1 NR_031702 MI0006436 HGNC:35367 +HGNC:35321 MIR1256 microRNA 1256 non-coding RNA RNA, micro Approved 1p36.12 01p36.12 hsa-mir-1256 MIRN1256 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302155 ENSG00000221808 uc031tsa.1 NR_031657 MI0006390 HGNC:35321 +HGNC:35322 MIR1257 microRNA 1257 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-1257 MIRN1257 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302168 ENSG00000284193 uc021wfv.1 NR_031658 MI0006391 HGNC:35322 +HGNC:35323 MIR1258 microRNA 1258 non-coding RNA RNA, micro Approved 2q31.3 02q31.3 hsa-mir-1258 MIRN1258 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-19 100302172 ENSG00000221240 uc021vtd.1 NR_031659 614488 MI0006392 HGNC:35323 +HGNC:35325 MIR1260A microRNA 1260a non-coding RNA RNA, micro Approved 14q24.3 14q24.3 hsa-mir-1260 "MIRN1260|MIR1260" microRNA 1260 MicroRNAs 476 2008-11-03 2011-11-14 2011-11-14 2016-11-16 100302236 ENSG00000221754 uc021rws.1 NR_031661 MI0006394 HGNC:35325 +HGNC:38258 MIR1260B microRNA 1260b non-coding RNA RNA, micro Approved 11q21 11q21 hsa-mir-1260b MicroRNAs 476 2010-04-30 2016-11-16 100422991 ENSG00000266192 uc021qoz.2 NR_036125 615372 MI0014197 HGNC:38258 +HGNC:35327 MIR1261 microRNA 1261 non-coding RNA RNA, micro Approved 11q14.3 11q14.3 hsa-mir-1261 MIRN1261 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302228 ENSG00000221586 uc031yak.1 NR_031663 MI0006396 HGNC:35327 +HGNC:35328 MIR1262 microRNA 1262 non-coding RNA RNA, micro Approved 1p31.3 01p31.3 hsa-mir-1262 MIRN1262 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-18 100302279 ENSG00000221203 uc021oos.1 NR_031664 MI0006397 HGNC:35328 +HGNC:35329 MIR1263 microRNA 1263 non-coding RNA RNA, micro Approved 3q26.1 03q26.1 hsa-mir-1263 MIRN1263 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-19 100302148 ENSG00000221251 uc032sig.1 NR_031665 MI0006398 HGNC:35329 +HGNC:35246 MIR1264 microRNA 1264 non-coding RNA RNA, micro Approved Xq23 Xq23 hsa-mir-1264 MIRN1264 MicroRNA MIR95 family 1767 2008-11-03 2008-12-18 2019-01-31 100302251 ENSG00000276158 NR_031563 26047583 MGI:4834216 MI0003758 HGNC:35246 +HGNC:35332 MIR1265 microRNA 1265 non-coding RNA RNA, micro Approved 10p13 10p13 hsa-mir-1265 MIRN1265 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302116 ENSG00000221371 uc021pne.1 NR_031668 MI0006401 HGNC:35332 +HGNC:35334 MIR1266 microRNA 1266 non-coding RNA RNA, micro Approved 15q21.2 15q21.2 hsa-mir-1266 MIRN1266 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302202 ENSG00000221052 uc021smp.2 NR_031670 MI0006403 HGNC:35334 +HGNC:35335 MIR1267 microRNA 1267 non-coding RNA RNA, micro Approved 13q33.3 13q33.3 hsa-mir-1267 MIRN1267 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302286 ENSG00000221650 uc032aol.1 NR_031671 MI0006404 HGNC:35335 +HGNC:35336 MIR1268A microRNA 1268a non-coding RNA RNA, micro Approved 15q11.2 15q11.2 hsa-mir-1268 "MIRN1268|MIR1268" microRNA 1268 MicroRNAs 476 2008-11-03 2011-11-14 2011-11-14 2014-11-19 100302233 ENSG00000221641 uc032bvh.1 NR_031672 MI0006405 HGNC:35336 +HGNC:41581 MIR1268B microRNA 1268b non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-1268b MicroRNAs 476 2011-05-02 2016-11-16 100616121 ENSG00000265561 NR_039607 MI0016748 HGNC:41581 +HGNC:35337 MIR1269A microRNA 1269a non-coding RNA RNA, micro Approved 4q13.2 04q13.2 hsa-mir-1269 "MIRN1269|MIR1269" microRNA 1269 MicroRNAs 476 2008-11-03 2011-11-14 2011-11-14 2016-11-16 100302177 ENSG00000221563 uc032tlf.1 NR_031673 MI0006406 HGNC:35337 +HGNC:41787 MIR1269B microRNA 1269b non-coding RNA RNA, micro Approved 17p12 17p12 hsa-mir-1269b MicroRNAs 476 2011-05-02 2016-11-16 100616494 ENSG00000265503 uc032etz.1 NR_039747 MI0016888 HGNC:41787 +HGNC:35338 MIR1270 microRNA 1270 non-coding RNA RNA, micro Approved 19p12 19p12 "hsa-mir-1270|hsa-mir-1270-2" "MIRN1270|MIR1270-2|MIR1270-1" "microRNA 1270-2|microRNA 1270-1" MicroRNAs 476 2008-11-03 2014-04-28 2014-04-28 2014-11-19 100302179 ENSG00000238517 NR_036053 MI0006407 HGNC:35338 +HGNC:35252 MIR1271 microRNA 1271 non-coding RNA RNA, micro Approved 5q35.2 05q35.2 hsa-mir-1271 MIRN1271 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-13 100302203 ENSG00000221464 uc032vuu.1 NR_031569 MI0003814 HGNC:35252 +HGNC:35339 MIR1272 microRNA 1272 non-coding RNA RNA, micro Approved 15q22.31 15q22.31 hsa-mir-1272 MIRN1272 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302184 ENSG00000221033 uc021soy.1 NR_031674 MI0006408 HGNC:35339 +HGNC:38173 MIR1273C microRNA 1273c non-coding RNA RNA, micro Approved 6q25.2 06q25.2 hsa-mir-1273c MicroRNAs 476 2010-04-30 2016-11-16 100422821 ENSG00000264814 uc032xpz.1 NR_036100 MI0014171 HGNC:38173 +HGNC:49973 MIR1273H microRNA 1273h non-coding RNA RNA, micro Approved 16p12.1 16p12.1 hsa-mir-1273h MicroRNAs 476 2014-03-24 2016-11-16 102466247 ENSG00000274466 NR_106996 MI0025512 HGNC:49973 +HGNC:35346 MIR1275 microRNA 1275 non-coding RNA RNA, micro Approved 6p21.31 06p21.31 hsa-mir-1275 MIRN1275 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302123 ENSG00000221697 uc021yyr.1 NR_031681 MI0006415 HGNC:35346 +HGNC:35347 MIR1276 microRNA 1276 non-coding RNA RNA, micro Approved 15q25.3 15q25.3 hsa-mir-1276 MIRN1276 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-18 100302121 ENSG00000221634 uc021stx.1 NR_031682 MI0006416 HGNC:35347 +HGNC:35350 MIR1277 microRNA 1277 non-coding RNA RNA, micro Approved Xq24 Xq24 hsa-mir-1277 MIRN1277 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-13 100302214 ENSG00000221463 uc022cdf.2 NR_031685 MI0006419 HGNC:35350 +HGNC:35356 MIR1278 microRNA 1278 non-coding RNA RNA, micro Approved 1q31.2 01q31.2 hsa-mir-1278 MIRN1278 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302163 ENSG00000221680 uc021pgq.1 NR_031691 MI0006425 HGNC:35356 +HGNC:35357 MIR1279 microRNA 1279 non-coding RNA RNA, micro Approved 12q15 12q15 hsa-mir-1279 MIRN1279 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302182 ENSG00000283476 NR_031692 MI0006426 HGNC:35357 +HGNC:35359 MIR1281 microRNA 1281 non-coding RNA RNA, micro Approved 22q13.2 22q13.2 hsa-mir-1281 MIRN1281 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-15 100302237 ENSG00000284015 uc021wqd.1 NR_031694 MI0006428 HGNC:35359 +HGNC:35360 MIR1282 microRNA 1282 non-coding RNA RNA, micro Approved 15q15.3 15q15.3 hsa-mir-1282 MIRN1282 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-15 100302254 ENSG00000221792 uc021ske.1 NR_031695 MI0006429 HGNC:35360 +HGNC:35255 MIR1283-1 microRNA 1283-1 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-1283-1 MIRN1283-1 MicroRNA MIR515 family 1780 2008-11-03 2008-12-18 2016-11-16 100302265 ENSG00000221421 uc021uzr.1 NR_031573 MI0003832 HGNC:35255 +HGNC:35361 MIR1283-2 microRNA 1283-2 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-1283-2 MIRN1283-2 MicroRNA MIR515 family 1780 2008-11-03 2008-12-18 2016-11-16 100302205 ENSG00000221548 uc021vax.1 NR_031696 MI0006430 HGNC:35361 +HGNC:35362 MIR1284 microRNA 1284 non-coding RNA RNA, micro Approved 3p13 03p13 hsa-mir-1284 MIRN1284 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-15 100302112 ENSG00000221264 uc021xap.1 NR_031697 MI0006431 HGNC:35362 +HGNC:35277 MIR1285-1 microRNA 1285-1 non-coding RNA RNA, micro Approved 7q21.2 07q21.2 hsa-mir-1285-1 MIRN1285-1 MicroRNA MIR1285 family 1863 2008-11-03 2008-12-18 2016-11-16 100302218 ENSG00000221520 uc032zxa.1 NR_031616 MI0006346 HGNC:35277 +HGNC:35278 MIR1285-2 microRNA 1285-2 non-coding RNA RNA, micro Approved 2p13.3 02p13.3 hsa-mir-1285-2 MIRN1285-2 MicroRNA MIR1285 family 1863 2008-11-03 2008-12-18 2016-11-16 100302268 ENSG00000221238 uc032nqo.1 NR_031617 MI0006347 HGNC:35278 +HGNC:35279 MIR1286 microRNA 1286 non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-1286 MIRN1286 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302118 ENSG00000221039 uc021wls.2 NR_031618 MI0006348 HGNC:35279 +HGNC:35280 MIR1287 microRNA 1287 non-coding RNA RNA, micro Approved 10q24.2 10q24.2 hsa-mir-1287 MIRN1287 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-15 100302133 ENSG00000284415 uc021pwu.1 NR_031619 MI0006349 HGNC:35280 +HGNC:35363 MIR1288 microRNA 1288 non-coding RNA RNA, micro Approved 17p11.2 17p11.2 hsa-mir-1288 MIRN1288 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302124 ENSG00000221355 uc021tqr.1 NR_031698 MI0006432 HGNC:35363 +HGNC:35281 MIR1289-1 microRNA 1289-1 non-coding RNA RNA, micro Approved 20q11.22 20q11.22 hsa-mir-1289-1 MIRN1289-1 MicroRNA MIR1289 family 1864 2008-11-03 2008-12-18 2016-11-16 100302125 ENSG00000221763 uc032pia.1 NR_031620 MI0006350 HGNC:35281 +HGNC:35282 MIR1289-2 microRNA 1289-2 non-coding RNA RNA, micro Approved 5q31.1 05q31.1 hsa-mir-1289-2 MIRN1289-2 MicroRNA MIR1289 family 1864 2008-11-03 2008-12-18 2016-11-16 100302134 ENSG00000221287 uc021ydn.1 NR_031621 MI0006351 HGNC:35282 +HGNC:35283 MIR1290 microRNA 1290 non-coding RNA RNA, micro Approved 1p36.13 01p36.13 hsa-mir-1290 MIRN1290 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302276 ENSG00000221662 uc031trl.1 NR_031622 MI0006352 HGNC:35283 +HGNC:35284 MIR1291 microRNA 1291 non-coding RNA RNA, micro Approved 12q13.11 12q13.11 hsa-mir-1291 MIRN1291 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-15 100302221 ENSG00000281842 NR_031623 MGI:5562744 MI0006353 HGNC:35284 +HGNC:35364 MIR1292 microRNA 1292 non-coding RNA RNA, micro Approved 20p13 20p13 hsa-mir-1292 MIRN1292 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302138 ENSG00000284481 uc021vzv.1 NR_031699 614155 MI0006433 HGNC:35364 +HGNC:35286 MIR1293 microRNA 1293 non-coding RNA RNA, micro Approved 12q13.12 12q13.12 hsa-mir-1293 MIRN1293 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302220 ENSG00000221604 uc021qxu.1 NR_031625 MI0006355 HGNC:35286 +HGNC:35287 MIR1294 microRNA 1294 non-coding RNA RNA, micro Approved 5q33.2 05q33.2 hsa-mir-1294 MIRN1294 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302181 ENSG00000221430 uc032voy.1 NR_031626 MI0006356 HGNC:35287 +HGNC:35288 MIR1295A microRNA 1295a non-coding RNA RNA, micro Approved 1q24.3 01q24.3 hsa-mir-1295 "MIRN1295|MIR1295" microRNA 1295 MicroRNAs 476 2008-11-03 2011-11-14 2011-11-14 2016-11-16 100302178 ENSG00000221390 uc021pes.1 NR_031627 MI0006357 HGNC:35288 +HGNC:43524 MIR1295B microRNA 1295b non-coding RNA RNA, micro Approved 1q24.3 01q24.3 hsa-mir-1295b MicroRNAs 476 2011-11-14 2016-11-16 100847009 ENSG00000283598 NR_049854 MI0019146 HGNC:43524 +HGNC:35249 MIR1296 microRNA 1296 non-coding RNA RNA, micro Approved 10q21.3 10q21.3 hsa-mir-1296 MIRN1296 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-13 100302150 ENSG00000221063 uc021prk.2 NR_031566 MI0003780 HGNC:35249 +HGNC:35289 MIR1297 microRNA 1297 non-coding RNA RNA, micro Approved 13q14.3 13q14.3 hsa-mir-1297 MIRN1297 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302187 ENSG00000283126 NR_031628 MI0006358 HGNC:35289 +HGNC:35258 MIR1298 microRNA 1298 non-coding RNA RNA, micro Approved Xq23 Xq23 hsa-mir-1298 MIRN1298 MicroRNAs 476 2008-11-03 2008-12-18 2019-01-31 100302153 ENSG00000221710 uc022ccz.1 NR_031578 26025955 MGI:4834221 MI0003938 HGNC:35258 +HGNC:35290 MIR1299 microRNA 1299 non-coding RNA RNA, micro Approved 9p11.2 09p11.2 hsa-mir-1299 MIRN1299 MicroRNAs 476 2008-11-03 2008-12-18 2015-01-29 100302167 ENSG00000275377 uc033crw.1 NR_031629 MI0006359 HGNC:35290 +HGNC:35253 MIR1301 microRNA 1301 non-coding RNA RNA, micro Approved 2p23.3 02p23.3 hsa-mir-1301 MIRN1301 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-13 100302246 ENSG00000221445 uc021veq.2 NR_031570 MI0003815 HGNC:35253 +HGNC:35293 MIR1302-1 microRNA 1302-1 non-coding RNA RNA, micro Approved 12q24.13 12q24.13 hsa-mir-1302-1 MIRN1302-1 MicroRNA MIR1302 family 1858 2008-11-03 2008-12-18 2015-07-24 100302227 ENSG00000283507 NR_031631 MI0006362 HGNC:35293 +HGNC:35294 MIR1302-2 microRNA 1302-2 non-coding RNA RNA, micro Approved 1p36.33 01p36.33 hsa-mir-1302-2 MIRN1302-2 MicroRNA MIR1302 family 1858 2008-11-03 2008-12-18 2017-11-17 100302278 ENSG00000284332 uc031tlb.1 NR_036051 MI0006363 HGNC:35294 +HGNC:52482 MIR1302-2HG MIR1302-2 host gene non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 MicroRNA non-coding host genes 1688 2016-11-09 2016-11-09 107985730 ENSG00000243485 OTTHUMG00000000959 XR_007065314 HGNC:52482 +HGNC:35295 MIR1302-3 microRNA 1302-3 non-coding RNA RNA, micro Approved 2q14.1 02q14.1 hsa-mir-1302-3 MIRN1302-3 MicroRNA MIR1302 family 1858 2008-11-03 2008-12-18 2016-11-16 100302128 ENSG00000221055 uc032nze.1 NR_031632 MI0006364 HGNC:35295 +HGNC:35296 MIR1302-4 microRNA 1302-4 non-coding RNA RNA, micro Approved 2q33.3 02q33.3 hsa-mir-1302-4 MIRN1302-4 MicroRNA MIR1302 family 1858 2008-11-03 2008-12-18 2015-07-24 100302130 ENSG00000221628 uc032oqw.1 NR_031633 MI0006365 HGNC:35296 +HGNC:35297 MIR1302-5 microRNA 1302-5 non-coding RNA RNA, micro Approved 20q13.13 20q13.13 hsa-mir-1302-5 MIRN1302-5 MicroRNA MIR1302 family 1858 2008-11-03 2008-12-18 2015-07-24 100302146 ENSG00000221091 uc032pmi.1 NR_031634 MI0006366 HGNC:35297 +HGNC:35298 MIR1302-6 microRNA 1302-6 non-coding RNA RNA, micro Approved 7p21.1 07p21.1 hsa-mir-1302-6 MIRN1302-6 MicroRNA MIR1302 family 1858 2008-11-03 2008-12-18 2015-07-24 100302140 ENSG00000221393 uc032zfx.1 NR_031635 MI0006367 HGNC:35298 +HGNC:35299 MIR1302-7 microRNA 1302-7 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-1302-7 MIRN1302-7 MicroRNA MIR1302 family 1858 2008-11-03 2008-12-18 2015-07-24 100302147 ENSG00000221768 NR_031636 MI0006368 HGNC:35299 +HGNC:35300 MIR1302-8 microRNA 1302-8 non-coding RNA RNA, micro Approved 9q22.33 09q22.33 hsa-mir-1302-8 MIRN1302-8 MicroRNA MIR1302 family 1858 2008-11-03 2008-12-18 2015-07-24 100302223 ENSG00000221269 uc033dcl.1 NR_031637 MI0006369 HGNC:35300 +HGNC:38218 MIR1302-9 microRNA 1302-9 non-coding RNA RNA, micro Approved 9p24.3 09p24.3 hsa-mir-1302-9 MicroRNA MIR1302 family 1858 2010-04-30 2020-06-03 100422831 ENSG00000283921 uc033cjs.1 NR_036266 MI0015978 HGNC:38218 +HGNC:55045 MIR1302-9HG MIR1302-9 host gene non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 MicroRNA non-coding host genes 1688 2020-06-03 2020-06-03 107987041 ENSG00000227518 +HGNC:38233 MIR1302-10 microRNA 1302-10 non-coding RNA RNA, micro Approved 15q26.3 15q26.3 hsa-mir-1302-10 MicroRNA MIR1302 family 1858 2010-04-30 2016-10-10 100422834 ENSG00000284557 uc032csz.1 NR_036267 MI0015979 HGNC:38233 +HGNC:38246 MIR1302-11 microRNA 1302-11 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-1302-11 MicroRNA MIR1302 family 1858 2010-04-30 2016-10-10 100422919 ENSG00000283801 uc032hiw.1 NR_036268 MI0015980 HGNC:38246 +HGNC:35301 MIR1303 microRNA 1303 non-coding RNA RNA, micro Approved 5q33.2 05q33.2 hsa-mir-1303 MIRN1303 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302284 ENSG00000221552 uc032voz.1 NR_031638 MI0006370 HGNC:35301 +HGNC:35302 MIR1304 microRNA 1304 non-coding RNA RNA, micro Approved 15q21.2 15q21.2 hsa-mir-1304 MIRN1304 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302240 ENSG00000284458 uc021qot.1 NR_031639 MI0006371 HGNC:35302 +HGNC:35303 MIR1305 microRNA 1305 non-coding RNA RNA, micro Approved 4q34.3 04q34.3 hsa-mir-1305 MIRN1305 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-19 100302270 ENSG00000221227 uc021xuw.1 NR_031640 MI0006372 HGNC:35303 +HGNC:35371 MIR1306 microRNA 1306 non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-1306 MIRN1306 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-15 100302197 ENSG00000284464 uc062bqa.1 NR_031706 MGI:3836985 RGD:7489022 MI0006443 HGNC:35371 +HGNC:35372 MIR1307 microRNA 1307 non-coding RNA RNA, micro Approved 10q24.33 10q24.33 hsa-mir-1307 MIRN1307 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-13 100302174 ENSG00000283867 uc021pxm.1 NR_031707 25887170 MI0006444 HGNC:35372 +HGNC:35373 MIR1321 microRNA 1321 non-coding RNA RNA, micro Approved Xq21.2 Xq21.2 hsa-mir-1321 MIRN1321 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-19 100302171 ENSG00000283435 NR_031710 MI0006652 HGNC:35373 +HGNC:35374 MIR1322 microRNA 1322 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-1322 MIRN1322 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302166 ENSG00000283210 NR_031711 MI0006653 HGNC:35374 +HGNC:35251 MIR1323 microRNA 1323 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-1323 MIRN1323 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-19 100302255 ENSG00000221017 uc021uzl.1 NR_031568 MI0003786 HGNC:35251 +HGNC:35377 MIR1324 microRNA 1324 non-coding RNA RNA, micro Approved 3p12.3 03p12.3 hsa-mir-1324 MIRN1324 MicroRNAs 476 2008-11-03 2008-12-18 2018-02-06 100302212 ENSG00000283894 uc021xar.1 NR_031714 MI0006657 HGNC:35377 +HGNC:41902 MIR1343 microRNA 1343 non-coding RNA RNA, micro Approved 11p13 11p13 hsa-mir-1343 MicroRNAs 476 2011-05-02 2019-02-13 100616437 ENSG00000251862 uc021qfv.1 NR_039836 26542979 MI0017320 HGNC:41902 +HGNC:35250 MIR1468 microRNA 1468 non-coding RNA RNA, micro Approved Xq11.1 Xq11.1 hsa-mir-1468 MIRN1468 MicroRNAs 476 2008-11-03 2008-12-18 2019-02-21 100302115 ENSG00000222532 uc022bya.1 NR_031567 MI0003782 HGNC:35250 +HGNC:35378 MIR1469 microRNA 1469 non-coding RNA RNA, micro Approved 15q26.2 15q26.2 hsa-mir-1469 MIRN1469 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302258 ENSG00000283888 uc021swi.1 NR_031715 MI0007074 HGNC:35378 +HGNC:35379 MIR1470 microRNA 1470 non-coding RNA RNA, micro Approved 19p13.12 19p13.12 hsa-mir-1470 MIRN1470 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-18 100302127 ENSG00000269782 uc021upx.1 NR_031716 MI0007075 HGNC:35379 +HGNC:35380 MIR1471 microRNA 1471 non-coding RNA RNA, micro Approved 2q37.1 02q37.1 hsa-mir-1471 MIRN1471 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302126 ENSG00000222246 uc021vyd.1 NR_031717 MI0007076 HGNC:35380 +HGNC:35381 MIR1537 microRNA 1537 non-coding RNA RNA, micro Approved 1q42.3 01q42.3 hsa-mir-1537 MIRN1537 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302139 ENSG00000222831 uc021pkv.1 NR_031718 MI0007258 HGNC:35381 +HGNC:35382 MIR1538 microRNA 1538 non-coding RNA RNA, micro Approved 16q22.1 16q22.1 hsa-mir-1538 MIRN1538 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302119 ENSG00000223109 uc021tkh.1 NR_031719 MI0007259 HGNC:35382 +HGNC:35383 MIR1539 microRNA 1539 non-coding RNA RNA, micro Approved 18q21.1 18q21.1 hsa-mir-1539 MIRN1539 MicroRNAs 476 2008-11-03 2008-12-18 2016-10-10 100302257 ENSG00000284239 OTTHUMG00000179691 uc060pbf.1 NR_031720 MI0007260 HGNC:35383 +HGNC:41596 MIR1587 microRNA 1587 non-coding RNA RNA, micro Approved Xp11.4 Xp11.4 hsa-mir-1587 MicroRNAs 476 2011-05-02 2014-11-18 100616251 ENSG00000263972 uc033dzv.1 NR_039763 MI0016905 HGNC:41596 +HGNC:35389 MIR1825 microRNA 1825 non-coding RNA RNA, micro Approved 20q11.21 20q11.21 hsa-mir-1825 MIRN1825 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302183 ENSG00000284125 uc032pgc.1 NR_031726 MI0008193 HGNC:35389 +HGNC:35391 MIR1827 microRNA 1827 non-coding RNA RNA, micro Approved 12q23.1 12q23.1 hsa-mir-1827 MIRN1827 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302217 ENSG00000221476 uc021srd.2 NR_031728 MI0008195 HGNC:35391 +HGNC:54161 MIR1843 microRNA 1843 non-coding RNA RNA, micro Approved 1q25.1 01q25.1 hsa-mir-1843 MicroRNAs 476 2018-12-12 2018-12-12 113839518 NR_162097 25215888 MI0032314 HGNC:54161 +HGNC:35392 MIR1908 microRNA 1908 non-coding RNA RNA, micro Approved 11q12.2 11q12.2 hsa-mir-1908 MIRN1908 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302263 ENSG00000284416 uc021qkk.1 NR_031729 MI0008329 HGNC:35392 +HGNC:35393 MIR1909 microRNA 1909 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-1909 MIRN1909 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302210 ENSG00000284216 uc021umm.1 NR_031730 615201 MI0008330 HGNC:35393 +HGNC:35394 MIR1910 microRNA 1910 non-coding RNA RNA, micro Approved 16q24.1 16q24.1 hsa-mir-1910 MIRN1910 MicroRNAs 476 2008-11-03 2008-12-18 2015-01-29 100302261 ENSG00000283416 NR_031731 MI0008331 HGNC:35394 +HGNC:35395 MIR1911 microRNA 1911 non-coding RNA RNA, micro Approved Xq23 Xq23 hsa-mir-1911 MIRN1911 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302222 ENSG00000222715 uc022cda.1 NR_031732 MI0008332 HGNC:35395 +HGNC:35396 MIR1912 microRNA 1912 non-coding RNA RNA, micro Approved Xq23 Xq23 hsa-mir-1912 MIRN1912 MicroRNAs 476 2008-11-03 2008-12-18 2019-01-31 100302144 ENSG00000222321 uc022ccx.1 NR_031733 27821806 MGI:4834332 RGD:4888584 MI0008333 HGNC:35396 +HGNC:35397 MIR1913 microRNA 1913 non-coding RNA RNA, micro Approved 6q27 06q27 hsa-mir-1913 MIRN1913 MicroRNAs 476 2008-11-03 2008-12-18 2016-11-16 100302141 ENSG00000222958 uc021zig.1 NR_031734 MI0008334 HGNC:35397 +HGNC:35398 MIR1914 microRNA 1914 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-1914 MIRN1914 MicroRNAs 476 2008-11-03 2008-12-18 2018-08-17 100302137 ENSG00000284433 uc021wgm.1 NR_031735 MI0008335 HGNC:35398 +HGNC:35399 MIR1915 microRNA 1915 non-coding RNA RNA, micro Approved 10p12.31 10p12.31 hsa-mir-1915 MIRN1915 MicroRNAs 476 2008-11-03 2008-12-18 2014-11-19 100302129 ENSG00000222071 uc021pnw.1 NR_031736 615202 MI0008336 HGNC:35399 +HGNC:31448 MIR1915HG MIR1915 host gene non-coding RNA RNA, long non-coding Approved 10p12.31 10p12.31 bA418C1.3 "C10orf114|CASC10" "chromosome 10 open reading frame 114|cancer susceptibility candidate 10|cancer susceptibility 10" MicroRNA non-coding host genes 1688 2004-05-27 2019-03-28 2019-03-28 2019-03-28 399726 ENSG00000204682 OTTHUMG00000017795 BC040880 NR_160800 Q5T4H9 21804547 HGNC:31448 +HGNC:37060 MIR1972-1 microRNA 1972-1 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-1972 MIR1972 microRNA 1972 MicroRNA MIR1972 family 1865 2009-04-06 2010-09-13 2010-09-13 2021-07-19 100302243 ENSG00000238728 uc032dsc.1 NR_036054 MI0009982 HGNC:37060 +HGNC:38252 MIR1972-2 microRNA 1972-2 non-coding RNA RNA, micro Approved 16q22.1 16q22.1 hsa-mir-1972-2 MicroRNA MIR1972 family 1865 2010-04-30 2016-11-16 100422922 ENSG00000239118 uc021tki.1 NR_036265 MI0015977 HGNC:38252 +HGNC:37061 MIR1973 microRNA 1973 non-coding RNA RNA, micro Approved 4q26 04q26 hsa-mir-1973 MicroRNAs 476 2009-04-06 2016-11-16 100302290 ENSG00000284253 NR_031737 MI0009983 HGNC:37061 +HGNC:37064 MIR1976 microRNA 1976 non-coding RNA RNA, micro Approved 1p36.11 01p36.11 hsa-mir-1976 MicroRNAs 476 2009-04-06 2016-11-16 100302190 ENSG00000238705 uc021ojp.1 NR_031740 MI0009986 HGNC:37064 +HGNC:37068 MIR2052 microRNA 2052 non-coding RNA RNA, micro Approved 8q21.13 08q21.13 hsa-mir-2052 MicroRNAs 476 2009-04-06 2016-11-16 100302260 ENSG00000283188 NR_031744 MI0010486 HGNC:37068 +HGNC:51555 MIR2052HG MIR2052 host gene non-coding RNA RNA, long non-coding Approved 8q21.11-q21.13 08q21.11-q21.13 MicroRNA non-coding host genes 1688 2015-03-05 2016-12-16 441355 ENSG00000254349 OTTHUMG00000164511 NR_033830 27758888 MIR2052HG HGNC:51555 +HGNC:37069 MIR2053 microRNA 2053 non-coding RNA RNA, micro Approved 8q23.3 08q23.3 hsa-mir-2053 MicroRNAs 476 2009-04-06 2016-11-16 100302225 ENSG00000238399 uc022azy.1 NR_031745 MI0010487 HGNC:37069 +HGNC:37070 MIR2054 microRNA 2054 non-coding RNA RNA, micro Approved 4q28.1 04q28.1 hsa-mir-2054 MicroRNAs 476 2009-04-06 2014-11-19 100302267 ENSG00000283550 NR_031746 MI0010488 HGNC:37070 +HGNC:37071 MIR2110 microRNA 2110 non-coding RNA RNA, micro Approved 10q25.3 10q25.3 hsa-mir-2110 MicroRNAs 476 2009-04-06 2018-08-17 100302224 ENSG00000284442 uc021pyt.1 NR_031747 MI0010629 HGNC:37071 +HGNC:37058 MIR2113 microRNA 2113 non-coding RNA RNA, micro Approved 6q16.1 06q16.1 hsa-mir-2113 MicroRNAs 476 2009-04-06 2016-11-16 100302164 ENSG00000238367 uc021zdb.2 NR_031579 MI0003939 HGNC:37058 +HGNC:37308 MIR2114 microRNA 2114 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-2114 MicroRNAs 476 2009-09-18 2019-02-13 100313839 ENSG00000252454 uc022cgr.2 NR_031748 MI0010633 HGNC:37308 +HGNC:37309 MIR2115 microRNA 2115 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-2115 MicroRNAs 476 2009-09-18 2016-11-16 100313840 ENSG00000252466 uc032rmf.1 NR_031749 MI0010634 HGNC:37309 +HGNC:37310 MIR2116 microRNA 2116 non-coding RNA RNA, micro Approved 15q22.2 15q22.2 hsa-mir-2116 MicroRNAs 476 2009-09-18 2016-11-16 100313886 ENSG00000253030 uc021smy.1 NR_031750 MI0010635 HGNC:37310 +HGNC:37311 MIR2117 microRNA 2117 non-coding RNA RNA, micro Approved 17q21.31 17q21.31 hsa-mir-2117 MicroRNAs 476 2009-09-18 2018-08-17 100313779 ENSG00000284344 uc021txz.1 NR_031751 MI0010636 HGNC:37311 +HGNC:51999 MIR2117HG MIR2117 host gene non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 MicroRNA non-coding host genes 1688 2015-10-14 2015-10-14 106660605 ENSG00000267151 OTTHUMG00000180882 DA448302 NR_146952 MIR2117HG HGNC:51999 +HGNC:37313 MIR2276 microRNA 2276 non-coding RNA RNA, micro Approved 13q12.12 13q12.12 hsa-mir-2276 MicroRNAs 476 2009-09-18 2016-11-16 100313842 ENSG00000252695 uc021rhh.1 NR_031753 MI0011282 HGNC:37313 +HGNC:37314 MIR2277 microRNA 2277 non-coding RNA RNA, micro Approved 5q15 05q15 hsa-mir-2277 MicroRNAs 476 2009-09-18 2018-08-17 100313887 ENSG00000284336 uc021ybl.1 NR_031754 MI0011284 HGNC:37314 +HGNC:37315 MIR2278 microRNA 2278 non-coding RNA RNA, micro Approved 9q22.32 09q22.32 hsa-mir-2278 MicroRNAs 476 2009-09-18 2016-11-16 100313780 ENSG00000252153 uc022bkj.1 NR_031755 MI0011285 HGNC:37315 +HGNC:38328 MIR2355 microRNA 2355 non-coding RNA RNA, micro Approved 2q33.3 02q33.3 hsa-mir-2355 MicroRNAs 476 2010-04-30 2016-11-16 100423036 ENSG00000253008 uc010ziy.2 NR_036227 MI0015873 HGNC:38328 +HGNC:41843 MIR2392 microRNA 2392 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-2392 MicroRNAs 476 2011-05-02 2016-11-16 100616495 ENSG00000266461 uc021sbt.1 NR_039729 MI0016870 HGNC:41843 +HGNC:41881 MIR2467 microRNA 2467 non-coding RNA RNA, micro Approved 2q37.3 02q37.3 hsa-mir-2467 MicroRNAs 476 2011-05-02 2016-11-16 100616360 ENSG00000264292 uc021vzb.1 NR_039948 MI0017432 HGNC:41881 +HGNC:41532 MIR2681 microRNA 2681 non-coding RNA RNA, micro Approved 13q33.1 13q33.1 hsa-mir-2681 MicroRNAs 476 2011-05-02 2016-11-16 100616110 ENSG00000265164 uc021rme.1 NR_039603 MI0012062 HGNC:41532 +HGNC:41688 MIR2682 microRNA 2682 non-coding RNA RNA, micro Approved 1p21.3 01p21.3 hsa-mir-2682 MicroRNAs 476 2011-05-02 2016-11-16 100616452 ENSG00000284247 uc057ipa.1 NR_039604 MI0012063 HGNC:41688 +HGNC:38221 MIR2861 microRNA 2861 non-coding RNA RNA, micro Approved 9q34.11 09q34.11 hsa-mir-2861 MicroRNAs 476 2010-04-30 2019-02-21 100422910 ENSG00000284547 NR_036055 MGI:4441431 613405 MI0013006 HGNC:38221 +HGNC:38372 MIR2909 microRNA 2909 non-coding RNA RNA, micro Approved 17q12 17q12 hsa-mir-2909 MicroRNAs 476 2010-04-30 2016-11-16 100422969 ENSG00000276326 uc032ghf.1 NR_036056 MI0013083 HGNC:38372 +HGNC:54162 MIR3059 microRNA 3059 non-coding RNA RNA, micro Approved 12q21.32 12q21.32 hsa-mir-3059 MicroRNAs 476 2018-12-12 2019-02-13 113839519 NR_162123 26473382 MGI:4834225 MI0039499 HGNC:54162 +HGNC:41652 MIR3064 microRNA 3064 non-coding RNA RNA, micro Approved 17q23.3 17q23.3 hsa-mir-3064 MicroRNAs 476 2011-05-02 2019-02-21 100616387 ENSG00000284564 uc060ivy.1 NR_039891 MGI:4834237 MI0017375 HGNC:41652 +HGNC:38234 MIR3065 microRNA 3065 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-3065 MicroRNAs 476 2010-04-30 2019-02-21 100422915 ENSG00000211563 NR_036151 MGI:4834238 MI0014228 HGNC:38234 +HGNC:38268 MIR3074 microRNA 3074 non-coding RNA RNA, micro Approved 9q22.32 09q22.32 hsa-mir-3074 MicroRNAs 476 2010-04-30 2019-02-21 100422842 ENSG00000207617 uc022bkk.2 NR_036109 MGI:4834247 MI0014181 HGNC:38268 +HGNC:54163 MIR3085 microRNA 3085 non-coding RNA RNA, micro Approved 10q24.2 10q24.2 hsa-mir-3085 MicroRNAs 476 2018-12-12 2019-02-13 113839520 NR_162124 26473382 MGI:4834259 MI0039500 HGNC:54163 +HGNC:38371 MIR3115 microRNA 3115 non-coding RNA RNA, micro Approved 1p36.12 01p36.12 hsa-mir-3115 MicroRNAs 476 2010-04-30 2016-11-16 100422866 ENSG00000263793 uc021oid.1 NR_036057 MI0014127 HGNC:38371 +HGNC:38200 MIR3116-1 microRNA 3116-1 non-coding RNA RNA, micro Approved 1p31.3 01p31.3 hsa-mir-3116-1 MicroRNAs 476 2010-04-30 2016-11-16 100422902 ENSG00000263908 NR_036058 MI0014128 HGNC:38200 +HGNC:38318 MIR3116-2 microRNA 3116-2 non-coding RNA RNA, micro Approved 1p31.3 01p31.3 hsa-mir-3116-2 MicroRNAs 476 2010-04-30 2016-11-16 100422946 ENSG00000283690 uc031ucn.1 NR_036059 MI0014129 HGNC:38318 +HGNC:38385 MIR3117 microRNA 3117 non-coding RNA RNA, micro Approved 1p31.3 01p31.3 hsa-mir-3117 MicroRNAs 476 2010-04-30 2016-11-16 100422871 ENSG00000264720 NR_036060 MI0014130 HGNC:38385 +HGNC:38265 MIR3118-1 microRNA 3118-1 non-coding RNA RNA, micro Approved 21q11.2 21q11.2 hsa-mir-3118-1 MicroRNA MIR3118 family 1866 2010-04-30 2015-07-30 100423008 ENSG00000266299 uc032puh.1 NR_036061 MI0014131 HGNC:38265 +HGNC:38324 MIR3118-2 microRNA 3118-2 non-coding RNA RNA, micro Approved 15q11.2 15q11.2 hsa-mir-3118-2 MicroRNA MIR3118 family 1866 2010-04-30 2015-07-30 100422949 ENSG00000265322 uc032bub.1 NR_036062 MI0014132 HGNC:38324 +HGNC:38274 MIR3118-3 microRNA 3118-3 non-coding RNA RNA, micro Approved 15q11.2 15q11.2 hsa-mir-3118-3 MicroRNA MIR3118 family 1866 2010-04-30 2015-07-30 100422844 ENSG00000277243 uc032dax.1 NR_036063 MI0014133 HGNC:38274 +HGNC:38287 MIR3118-4 microRNA 3118-4 non-coding RNA RNA, micro Approved 15q11.2 15q11.2 hsa-mir-3118-4 MicroRNA MIR3118 family 1866 2010-04-30 2016-11-16 100422935 ENSG00000265793 uc032bvb.1 NR_036134 MI0014207 HGNC:38287 +HGNC:38253 MIR3119-1 microRNA 3119-1 non-coding RNA RNA, micro Approved 1q24.2 01q24.2 hsa-mir-3119-1 MicroRNAs 476 2010-04-30 2017-11-17 100422839 ENSG00000283340 uc021peq.1 NR_036064 MI0014134 HGNC:38253 +HGNC:38315 MIR3119-2 microRNA 3119-2 non-coding RNA RNA, micro Approved 1q24.2 01q24.2 hsa-mir-3119-2 MicroRNAs 476 2010-04-30 2017-11-17 100423010 ENSG00000263390 NR_036065 MI0014135 HGNC:38315 +HGNC:38295 MIR3120 microRNA 3120 non-coding RNA RNA, micro Approved 1q24.3 01q24.3 hsa-mir-3120 MicroRNAs 476 2010-04-30 2019-01-30 100422882 ENSG00000283152 NR_036066 22393045 RGD:4888566 614722 MI0014136 HGNC:38295 +HGNC:38259 MIR3121 microRNA 3121 non-coding RNA RNA, micro Approved 1q25.3 01q25.3 hsa-mir-3121 MicroRNAs 476 2010-04-30 2016-11-16 100423032 ENSG00000265435 uc021pfq.1 NR_036067 MI0014137 HGNC:38259 +HGNC:38320 MIR3122 microRNA 3122 non-coding RNA RNA, micro Approved 1q32.3 01q32.3 hsa-mir-3122 MicroRNAs 476 2010-04-30 2016-11-16 100422947 ENSG00000264358 uc021pis.1 NR_036068 MI0014138 HGNC:38320 +HGNC:38330 MIR3123 microRNA 3123 non-coding RNA RNA, micro Approved 1q43 01q43 hsa-mir-3123 MicroRNAs 476 2010-04-30 2016-11-16 100422856 ENSG00000265831 uc021plg.1 NR_036069 MI0014139 HGNC:38330 +HGNC:38262 MIR3124 microRNA 3124 non-coding RNA RNA, micro Approved 1q44 01q44 hsa-mir-3124 MicroRNAs 476 2010-04-30 2016-11-16 100422879 ENSG00000264500 uc021pmd.1 NR_036070 MI0014140 HGNC:38262 +HGNC:38219 MIR3125 microRNA 3125 non-coding RNA RNA, micro Approved 2p24.3 02p24.3 hsa-mir-3125 MicroRNAs 476 2010-04-30 2016-11-16 100422986 ENSG00000264370 uc021vec.1 NR_036072 MI0014142 HGNC:38219 +HGNC:38225 MIR3126 microRNA 3126 non-coding RNA RNA, micro Approved 2p13.3 02p13.3 hsa-mir-3126 MicroRNAs 476 2010-04-30 2016-11-16 100423030 ENSG00000266649 uc021viv.1 NR_036073 MI0014143 HGNC:38225 +HGNC:38269 MIR3127 microRNA 3127 non-coding RNA RNA, micro Approved 2q11.2 02q11.2 hsa-mir-3127 MicroRNAs 476 2010-04-30 2016-11-16 100422928 ENSG00000264157 NR_036074 MI0014144 HGNC:38269 +HGNC:38188 MIR3128 microRNA 3128 non-coding RNA RNA, micro Approved 2q31.2 02q31.2 hsa-mir-3128 MicroRNAs 476 2010-04-30 2016-11-16 100422824 ENSG00000265396 uc021vsu.1 NR_036075 MI0014145 HGNC:38188 +HGNC:38217 MIR3129 microRNA 3129 non-coding RNA RNA, micro Approved 2q32.2 02q32.2 hsa-mir-3129 MicroRNAs 476 2010-04-30 2016-11-16 100422908 ENSG00000264725 uc021vty.1 NR_036076 MI0014146 HGNC:38217 +HGNC:38275 MIR3130-1 microRNA 3130-1 non-coding RNA RNA, micro Approved 2q33.3 02q33.3 "hsa-mir-3130-1|hsa-mir-3130-3" MIR3130-3 microRNA 3130-3 MicroRNAs 476 2010-04-30 2017-11-17 100422993 ENSG00000283469 uc021vvn.1 NR_036077 MI0014147 HGNC:38275 +HGNC:38363 MIR3130-2 microRNA 3130-2 non-coding RNA RNA, micro Approved 2q33.3 02q33.3 "hsa-mir-3130-2|hsa-mir-3130-4" MIR3130-4 microRNA 3130-4 MicroRNAs 476 2010-04-30 2017-11-17 100423002 ENSG00000263468 NR_036078 MI0014148 HGNC:38363 +HGNC:38347 MIR3131 microRNA 3131 non-coding RNA RNA, micro Approved 2q35 02q35 hsa-mir-3131 MicroRNAs 476 2010-04-30 2016-11-16 100422957 ENSG00000264755 uc021vxa.1 NR_036081 MI0014151 HGNC:38347 +HGNC:38373 MIR3132 microRNA 3132 non-coding RNA RNA, micro Approved 2q35 02q35 hsa-mir-3132 MicroRNAs 476 2010-04-30 2016-11-16 100423039 ENSG00000265252 uc021vxc.1 NR_036082 MI0014152 HGNC:38373 +HGNC:38305 MIR3133 microRNA 3133 non-coding RNA RNA, micro Approved 2q37.3 02q37.3 hsa-mir-3133 MicroRNAs 476 2010-04-30 2016-11-16 100422942 ENSG00000263752 uc032oxm.1 NR_036083 MI0014153 HGNC:38305 +HGNC:38254 MIR3134 microRNA 3134 non-coding RNA RNA, micro Approved 3p25.1 03p25.1 hsa-mir-3134 MicroRNAs 476 2010-04-30 2016-11-16 100422990 ENSG00000264354 uc032rfv.1 NR_036085 MI0014155 HGNC:38254 +HGNC:38199 MIR3135A microRNA 3135a non-coding RNA RNA, micro Approved 3p24.3 03p24.3 hsa-mir-3135 MIR3135 microRNA 3135 MicroRNAs 476 2010-04-30 2011-11-14 2011-11-14 2016-11-16 100422901 ENSG00000266745 uc032rgp.1 NR_036086 MI0014156 HGNC:38199 +HGNC:41783 MIR3135B microRNA 3135b non-coding RNA RNA, micro Approved 6p21.32 06p21.32 hsa-mir-3135b MicroRNAs 476 2011-05-02 2016-11-16 100616218 ENSG00000263649 uc032wsi.1 NR_039668 MI0016809 HGNC:41783 +HGNC:38340 MIR3136 microRNA 3136 non-coding RNA RNA, micro Approved 3p14.1 03p14.1 hsa-mir-3136 MicroRNAs 476 2010-04-30 2016-11-16 100422859 ENSG00000265355 uc021xaj.1 NR_036087 MI0014158 HGNC:38340 +HGNC:38263 MIR3137 microRNA 3137 non-coding RNA RNA, micro Approved 3q29 03q29 hsa-mir-3137 MicroRNAs 476 2010-04-30 2016-11-16 100422926 ENSG00000265333 uc032snz.1 NR_036089 MI0014160 HGNC:38263 +HGNC:38341 MIR3138 microRNA 3138 non-coding RNA RNA, micro Approved 4p16.1 04p16.1 hsa-mir-3138 MicroRNAs 476 2010-04-30 2016-11-16 100423011 ENSG00000264931 uc021xlx.1 NR_036090 MI0014161 HGNC:38341 +HGNC:38201 MIR3139 microRNA 3139 non-coding RNA RNA, micro Approved 4q31.21 04q31.21 hsa-mir-3139 MicroRNAs 476 2010-04-30 2016-11-16 100423017 ENSG00000265623 uc032tyr.1 NR_036091 MI0014162 HGNC:38201 +HGNC:38183 MIR3140 microRNA 3140 non-coding RNA RNA, micro Approved 4q31.3 04q31.3 hsa-mir-3140 MicroRNAs 476 2010-04-30 2016-11-16 100422896 ENSG00000264678 uc021xtd.1 NR_036092 MI0014163 HGNC:38183 +HGNC:38326 MIR3141 microRNA 3141 non-coding RNA RNA, micro Approved 5q33.2 05q33.2 hsa-mir-3141 MicroRNAs 476 2010-04-30 2016-11-16 100422950 ENSG00000264760 uc021ygg.1 NR_036094 MI0014165 HGNC:38326 +HGNC:38297 MIR3142 microRNA 3142 non-coding RNA RNA, micro Approved 5q33.3 05q33.3 hsa-mir-3142 MicroRNAs 476 2010-04-30 2016-11-16 100422938 ENSG00000265237 uc021yhd.1 NR_036095 MI0014166 HGNC:38297 +HGNC:51944 MIR3142HG MIR3142 host gene non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 MicroRNA non-coding host genes 1688 2015-10-08 2015-10-08 107075116 ENSG00000253522 OTTHUMG00000163553 NR_132748 MIR3142HG HGNC:51944 +HGNC:38284 MIR3143 microRNA 3143 non-coding RNA RNA, micro Approved 6p22.1 06p22.1 hsa-mir-3143 MicroRNAs 476 2010-04-30 2016-11-16 100422934 ENSG00000265565 uc021yoz.1 NR_036096 MI0014167 HGNC:38284 +HGNC:38331 MIR3144 microRNA 3144 non-coding RNA RNA, micro Approved 6q22.31 06q22.31 hsa-mir-3144 MicroRNAs 476 2010-04-30 2016-11-16 100422951 ENSG00000265725 uc032xkg.1 NR_036098 MI0014169 HGNC:38331 +HGNC:38327 MIR3145 microRNA 3145 non-coding RNA RNA, micro Approved 6q24.1 06q24.1 hsa-mir-3145 MicroRNAs 476 2010-04-30 2016-11-16 100423001 ENSG00000266555 uc021zfw.1 NR_036099 MI0014170 HGNC:38327 +HGNC:38368 MIR3146 microRNA 3146 non-coding RNA RNA, micro Approved 7p21.1 07p21.1 hsa-mir-3146 MicroRNAs 476 2010-04-30 2016-11-16 100422967 ENSG00000265932 uc022aai.1 NR_036101 MI0014172 HGNC:38368 +HGNC:38300 MIR3147 microRNA 3147 non-coding RNA RNA, micro Approved 7p11.2 07p11.2 hsa-mir-3147 MicroRNAs 476 2010-04-30 2016-11-16 100422939 ENSG00000266168 uc022aeq.1 NR_036102 MI0014173 HGNC:38300 +HGNC:56144 MIR3147HG MIR3147 host gene non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 MicroRNA non-coding host genes 1688 2022-01-12 2022-01-12 100653233 ENSG00000260653 NR_120505 +HGNC:38215 MIR3148 microRNA 3148 non-coding RNA RNA, micro Approved 8p12 08p12 hsa-mir-3148 MicroRNAs 476 2010-04-30 2016-11-16 100422876 ENSG00000264788 uc022atl.1 NR_036104 MI0014175 HGNC:38215 +HGNC:38251 MIR3149 microRNA 3149 non-coding RNA RNA, micro Approved 8q21.13 08q21.13 hsa-mir-3149 MicroRNAs 476 2010-04-30 2016-11-16 100422921 ENSG00000266712 NR_130460 MI0014176 HGNC:38251 +HGNC:38362 MIR3150A microRNA 3150a non-coding RNA RNA, micro Approved 8q22.1 08q22.1 "hsa-mir-3150|hsa-mir-3150a" MIR3150 microRNA 3150 MicroRNAs 476 2010-04-30 2011-05-06 2011-05-06 2016-11-16 100422964 ENSG00000283522 NR_036105 MI0014177 HGNC:38362 +HGNC:38938 MIR3150B microRNA 3150b non-coding RNA RNA, micro Approved 8q22.1 08q22.1 hsa-mir-3150b MicroRNAs 476 2010-09-15 2017-11-17 100500907 ENSG00000284147 uc022ayi.1 NR_037484 MI0016426 HGNC:38938 +HGNC:52000 MIR3150BHG MIR3150B host gene non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 MicroRNA non-coding host genes 1688 2017-08-03 2017-08-03 2017-08-03 2017-08-03 105375650 ENSG00000245080 OTTHUMG00000164658 NR_132986 HGNC:52000 +HGNC:38266 MIR3151 microRNA 3151 non-coding RNA RNA, micro Approved 8q22.3 08q22.3 hsa-mir-3151 MicroRNAs 476 2010-04-30 2016-11-16 100422992 ENSG00000265657 uc022azm.1 NR_036106 MI0014178 HGNC:38266 +HGNC:38379 MIR3152 microRNA 3152 non-coding RNA RNA, micro Approved 9p22.1 09p22.1 hsa-mir-3152 MicroRNAs 476 2010-04-30 2016-11-16 100422869 ENSG00000264638 uc022bds.1 NR_036107 MI0014179 HGNC:38379 +HGNC:38289 MIR3153 microRNA 3153 non-coding RNA RNA, micro Approved 9q22.2 09q22.2 hsa-mir-3153 MicroRNAs 476 2010-04-30 2016-11-16 100422936 ENSG00000265112 uc022bjn.1 NR_036108 MI0014180 HGNC:38289 +HGNC:38176 MIR3154 microRNA 3154 non-coding RNA RNA, micro Approved 9q34.11 09q34.11 hsa-mir-3154 MicroRNAs 476 2010-04-30 2019-02-21 100422893 ENSG00000264823 NR_036110 MGI:5453140 MI0014182 HGNC:38176 +HGNC:38245 MIR3155A microRNA 3155a non-coding RNA RNA, micro Approved 10p15.1 10p15.1 hsa-mir-3155 MIR3155 microRNA 3155 MicroRNAs 476 2010-04-30 2011-11-14 2011-11-14 2016-11-16 100422989 ENSG00000263628 uc021pmq.1 NR_036111 MI0014183 HGNC:38245 +HGNC:50003 MIR3155B microRNA 3155b non-coding RNA RNA, micro Approved 10p15.1 10p15.1 hsa-mir-3155b MicroRNAs 476 2014-03-24 2016-11-16 100628560 ENSG00000283634 NR_039698 MI0016839 HGNC:50003 +HGNC:38241 MIR3156-1 microRNA 3156-1 non-coding RNA RNA, micro Approved 10q11.21 10q11.21 hsa-mir-3156-1 MicroRNA MIR3156 family 1867 2010-04-30 2016-11-16 100422988 ENSG00000263476 uc021ppp.1 NR_036112 MI0014184 HGNC:38241 +HGNC:38213 MIR3156-2 microRNA 3156-2 non-coding RNA RNA, micro Approved 18p11.21 18p11.21 hsa-mir-3156-2 MicroRNA MIR3156 family 1867 2010-04-30 2016-11-16 100422907 ENSG00000265499 uc021uhz.1 NR_036153 MI0014230 HGNC:38213 +HGNC:38229 MIR3156-3 microRNA 3156-3 non-coding RNA RNA, micro Approved 21q11.2 21q11.2 hsa-mir-3156-3 MicroRNA MIR3156 family 1867 2010-04-30 2016-11-16 100423018 ENSG00000266211 uc021whb.1 NR_036164 MI0014242 HGNC:38229 +HGNC:38172 MIR3157 microRNA 3157 non-coding RNA RNA, micro Approved 10q24.1 10q24.1 hsa-mir-3157 MicroRNAs 476 2010-04-30 2016-11-16 100422892 ENSG00000266407 uc021pwn.1 NR_036113 MI0014185 HGNC:38172 +HGNC:38196 MIR3158-1 microRNA 3158-1 non-coding RNA RNA, micro Approved 10q24.32 10q24.32 hsa-mir-3158-1 MicroRNAs 476 2010-04-30 2017-11-17 100422900 ENSG00000263436 NR_036114 MI0014186 HGNC:38196 +HGNC:38279 MIR3158-2 microRNA 3158-2 non-coding RNA RNA, micro Approved 10q24.32 10q24.32 hsa-mir-3158-2 MicroRNAs 476 2010-04-30 2017-11-17 100423033 ENSG00000283558 uc021pxe.1 NR_036115 MI0014187 HGNC:38279 +HGNC:38181 MIR3159 microRNA 3159 non-coding RNA RNA, micro Approved 11p15.1 11p15.1 hsa-mir-3159 MicroRNAs 476 2010-04-30 2016-11-16 100423016 ENSG00000264603 uc031xhd.1 NR_036116 MI0014188 HGNC:38181 +HGNC:38197 MIR3160-1 microRNA 3160-1 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-3160-1 MicroRNAs 476 2010-04-30 2016-11-16 100422827 ENSG00000265014 NR_036117 MI0014189 HGNC:38197 +HGNC:38192 MIR3160-2 microRNA 3160-2 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-3160-2 MicroRNAs 476 2010-04-30 2016-11-16 100422825 ENSG00000283497 uc021qin.1 NR_036118 MI0014190 HGNC:38192 +HGNC:38285 MIR3161 microRNA 3161 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-3161 MicroRNAs 476 2010-04-30 2016-11-16 100423000 ENSG00000263693 uc031xol.1 NR_036119 MI0014191 HGNC:38285 +HGNC:38271 MIR3162 microRNA 3162 non-coding RNA RNA, micro Approved 11q12.1 11q12.1 hsa-mir-3162 MicroRNAs 476 2010-04-30 2016-11-16 100422880 ENSG00000264559 uc021qjy.1 NR_036120 MI0014192 HGNC:38271 +HGNC:38209 MIR3163 microRNA 3163 non-coding RNA RNA, micro Approved 11q13.2 11q13.2 hsa-mir-3163 MicroRNAs 476 2010-04-30 2016-11-16 100423029 ENSG00000266423 uc031xso.1 NR_036121 MI0014193 HGNC:38209 +HGNC:38288 MIR3164 microRNA 3164 non-coding RNA RNA, micro Approved 11q13.3 11q13.3 hsa-mir-3164 MicroRNAs 476 2010-04-30 2016-11-16 100422846 ENSG00000265539 uc031xtr.1 NR_036122 MI0014194 HGNC:38288 +HGNC:38335 MIR3165 microRNA 3165 non-coding RNA RNA, micro Approved 11q13.4 11q13.4 hsa-mir-3165 MicroRNAs 476 2010-04-30 2016-11-16 100422953 ENSG00000263742 uc021qmx.1 NR_036123 MI0014195 HGNC:38335 +HGNC:38386 MIR3166 microRNA 3166 non-coding RNA RNA, micro Approved 11q14.2 11q14.2 hsa-mir-3166 MicroRNAs 476 2010-04-30 2016-11-16 100423040 ENSG00000266581 uc031xzp.1 NR_036124 MI0014196 HGNC:38386 +HGNC:38242 MIR3167 microRNA 3167 non-coding RNA RNA, micro Approved 11q24.2 11q24.2 hsa-mir-3167 MicroRNAs 476 2010-04-30 2016-11-16 100422918 ENSG00000266215 uc021qrz.1 NR_036126 MI0014198 HGNC:38242 +HGNC:38249 MIR3168 microRNA 3168 non-coding RNA RNA, micro Approved 13q14.11 13q14.11 hsa-mir-3168 MicroRNAs 476 2010-04-30 2016-11-16 100422878 ENSG00000264226 uc032adc.1 NR_036127 MI0014199 HGNC:38249 +HGNC:38380 MIR3169 microRNA 3169 non-coding RNA RNA, micro Approved 13q21.2 13q21.2 hsa-mir-3169 MicroRNAs 476 2010-04-30 2016-11-16 100422973 ENSG00000266663 uc021rkg.1 NR_036128 MI0014200 HGNC:38380 +HGNC:38282 MIR3170 microRNA 3170 non-coding RNA RNA, micro Approved 13q32.2 13q32.2 hsa-mir-3170 MicroRNAs 476 2010-04-30 2016-11-16 100422881 ENSG00000263399 uc021rlt.1 NR_036129 MI0014201 HGNC:38282 +HGNC:38216 MIR3171 microRNA 3171 non-coding RNA RNA, micro Approved 14q12 14q12 hsa-mir-3171 MicroRNAs 476 2010-04-30 2016-11-16 100422830 ENSG00000264657 uc059ajm.1 NR_130461 MI0014202 HGNC:38216 +HGNC:56193 MIR3171HG MIR3171 host gene non-coding RNA RNA, long non-coding Approved 14q12 14q12 MicroRNA non-coding host genes 1688 2022-01-31 2022-01-31 728755 ENSG00000258932 NR_148991 +HGNC:38174 MIR3173 microRNA 3173 non-coding RNA RNA, micro Approved 14q32.13 14q32.13 hsa-mir-3173 MicroRNAs 476 2010-04-30 2016-11-16 100422981 ENSG00000264607 uc021sbe.1 NR_036131 MI0014204 HGNC:38174 +HGNC:38264 MIR3174 microRNA 3174 non-coding RNA RNA, micro Approved 15q26.1 15q26.1 hsa-mir-3174 MicroRNAs 476 2010-04-30 2016-11-16 100422841 ENSG00000265871 uc032cpa.1 NR_036135 MI0014208 HGNC:38264 +HGNC:38299 MIR3175 microRNA 3175 non-coding RNA RNA, micro Approved 15q26.1 15q26.1 hsa-mir-3175 MicroRNAs 476 2010-04-30 2016-11-16 100422995 ENSG00000284324 uc021svr.1 NR_036136 MI0014209 HGNC:38299 +HGNC:38345 MIR3176 microRNA 3176 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-3176 MicroRNAs 476 2010-04-30 2016-11-16 100423037 ENSG00000266235 uc021szr.1 NR_036137 MI0014210 HGNC:38345 +HGNC:38364 MIR3177 microRNA 3177 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-3177 MicroRNAs 476 2010-04-30 2016-11-16 100423012 ENSG00000265820 uc021tai.1 NR_036138 MI0014211 HGNC:38364 +HGNC:38381 MIR3178 microRNA 3178 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-3178 MicroRNAs 476 2010-04-30 2016-11-16 100422974 ENSG00000266232 uc021taw.1 NR_036139 MI0014212 HGNC:38381 +HGNC:38353 MIR3179-1 microRNA 3179-1 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-3179-1 MicroRNA MIR3179 family 1868 2010-04-30 2016-10-10 100422960 ENSG00000284305 OTTHUMG00000170530 uc059rcf.1 NR_036140 MI0014213 HGNC:38353 +HGNC:38325 MIR3179-2 microRNA 3179-2 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-3179-2 MicroRNA MIR3179 family 1868 2010-04-30 2015-02-03 100422886 ENSG00000257381 uc021tdv.1 NR_036143 MI0014216 HGNC:38325 +HGNC:38214 MIR3179-3 microRNA 3179-3 non-coding RNA RNA, micro Approved 16p12.3 16p12.3 hsa-mir-3179-3 MicroRNA MIR3179 family 1868 2010-04-30 2014-11-19 100423006 ENSG00000266454 OTTHUMG00000170523 uc059rje.1 NR_036145 MI0014221 HGNC:38214 +HGNC:50838 MIR3179-4 microRNA 3179-4 non-coding RNA RNA, micro Approved 16p12.3 16p12.3 MicroRNA MIR3179 family 1868 2014-06-26 2016-11-16 103504729 ENSG00000277014 NR_128709 MI0031510 HGNC:50838 +HGNC:38382 MIR3180-1 microRNA 3180-1 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-3180-1 MicroRNA MIR3180 family 1869 2010-04-30 2016-11-16 100422870 ENSG00000265537 OTTHUMG00000170531 uc059rcg.1 NR_036141 MI0014214 HGNC:38382 +HGNC:38343 MIR3180-2 microRNA 3180-2 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-3180-2 MicroRNA MIR3180 family 1869 2010-04-30 2016-11-16 100422956 ENSG00000265373 OTTHUMG00000170527 uc059rhi.1 NR_036142 MI0014215 HGNC:38343 +HGNC:38239 MIR3180-3 microRNA 3180-3 non-coding RNA RNA, micro Approved 16p12.3 16p12.3 hsa-mir-3180-3 MicroRNA MIR3180 family 1869 2010-04-30 2016-11-16 100422836 ENSG00000266291 OTTHUMG00000170522 uc059rjd.1 NR_036144 MI0014217 HGNC:38239 +HGNC:38920 MIR3180-4 microRNA 3180-4 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-3180-4 MicroRNA MIR3180 family 1869 2010-09-15 2016-11-16 100500852 ENSG00000264115 OTTHUMG00000170535 uc059rdu.1 NR_037466 MI0016408 HGNC:38920 +HGNC:38969 MIR3180-5 microRNA 3180-5 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-3180-5 MicroRNA MIR3180 family 1869 2010-09-15 2016-11-16 100500916 ENSG00000264397 uc021tar.1 NR_037467 MI0016409 HGNC:38969 +HGNC:38378 MIR3181 microRNA 3181 non-coding RNA RNA, micro Approved 16q12.1 16q12.1 hsa-mir-3181 MicroRNAs 476 2010-04-30 2016-11-16 100422972 ENSG00000264947 uc059uby.1 NR_130462 MI0014223 HGNC:38378 +HGNC:38317 MIR3182 microRNA 3182 non-coding RNA RNA, micro Approved 16q23.3 16q23.3 hsa-mir-3182 MicroRNAs 476 2010-04-30 2016-11-16 100422853 ENSG00000263785 uc021tlx.1 NR_036147 MI0014224 HGNC:38317 +HGNC:38237 MIR3183 microRNA 3183 non-coding RNA RNA, micro Approved 17p13.3 17p13.3 hsa-mir-3183 MicroRNAs 476 2010-04-30 2016-11-16 100422835 ENSG00000264429 uc021tnb.1 NR_036148 MI0014225 HGNC:38237 +HGNC:38182 MIR3184 microRNA 3184 non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-3184 MicroRNAs 476 2010-04-30 2016-11-16 100423003 ENSG00000284399 OTTHUMG00000179921 uc021tub.2 NR_036149 MI0014226 HGNC:38182 +HGNC:38391 MIR3185 microRNA 3185 non-coding RNA RNA, micro Approved 17q21.32 17q21.32 hsa-mir-3185 MicroRNAs 476 2010-04-30 2016-11-16 100422978 ENSG00000263602 uc021tzl.1 NR_036150 MI0014227 HGNC:38391 +HGNC:38311 MIR3186 microRNA 3186 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-3186 MicroRNAs 476 2010-04-30 2016-11-16 100422944 ENSG00000266189 uc021ufa.1 NR_036152 MI0014229 HGNC:38311 +HGNC:38319 MIR3187 microRNA 3187 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-3187 MicroRNAs 476 2010-04-30 2016-11-16 100422854 ENSG00000263414 uc021uma.1 NR_036154 MI0014231 HGNC:38319 +HGNC:38226 MIR3188 microRNA 3188 non-coding RNA RNA, micro Approved 19p13.11 19p13.11 hsa-mir-3188 MicroRNAs 476 2010-04-30 2016-11-16 100422833 ENSG00000267959 uc021uqm.1 NR_036155 MI0014232 HGNC:38226 +HGNC:38307 MIR3189 microRNA 3189 non-coding RNA RNA, micro Approved 19p13.11 19p13.11 hsa-mir-3189 MicroRNAs 476 2010-04-30 2016-11-16 100422943 ENSG00000264175 uc021uqo.1 NR_036156 MI0014233 HGNC:38307 +HGNC:38190 MIR3190 microRNA 3190 non-coding RNA RNA, micro Approved 19q13.32 19q13.32 hsa-mir-3190 MicroRNAs 476 2010-04-30 2016-11-16 100422899 ENSG00000265134 uc021uwk.1 NR_036158 MI0014235 HGNC:38190 +HGNC:38222 MIR3191 microRNA 3191 non-coding RNA RNA, micro Approved 19q13.32 19q13.32 hsa-mir-3191 MicroRNAs 476 2010-04-30 2016-11-16 100422832 ENSG00000284411 NR_036159 MI0014236 HGNC:38222 +HGNC:38202 MIR3192 microRNA 3192 non-coding RNA RNA, micro Approved 20p11.23 20p11.23 hsa-mir-3192 MicroRNAs 476 2010-04-30 2016-11-16 100422875 ENSG00000265137 NR_036160 MI0014237 HGNC:38202 +HGNC:38204 MIR3193 microRNA 3193 non-coding RNA RNA, micro Approved 20q11.21 20q11.21 hsa-mir-3193 MicroRNAs 476 2010-04-30 2016-11-16 100422904 ENSG00000264395 uc021wbt.1 NR_036161 MI0014238 HGNC:38204 +HGNC:38346 MIR3194 microRNA 3194 non-coding RNA RNA, micro Approved 20q13.2 20q13.2 hsa-mir-3194 MicroRNAs 476 2010-04-30 2016-11-16 100422889 ENSG00000266761 uc021weu.1 NR_036162 MI0014239 HGNC:38346 +HGNC:38250 MIR3195 microRNA 3195 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-3195 MicroRNAs 476 2010-04-30 2016-11-16 100422838 ENSG00000265306 uc061ygh.1 NR_130463 MI0014240 HGNC:38250 +HGNC:38198 MIR3196 microRNA 3196 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-3196 MicroRNAs 476 2010-04-30 2016-11-16 100423014 ENSG00000266463 uc021wga.1 NR_036163 MI0014241 HGNC:38198 +HGNC:38366 MIR3197 microRNA 3197 non-coding RNA RNA, micro Approved 21q22.2 21q22.2 hsa-mir-3197 MicroRNAs 476 2010-04-30 2016-11-16 100423023 ENSG00000263681 uc021wjm.1 NR_036167 MI0014245 HGNC:38366 +HGNC:38236 MIR3198-1 microRNA 3198-1 non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-3198-1 MIR3198 microRNA 3198 MicroRNA MIR3198 family 1870 2010-04-30 2011-05-06 2011-05-06 2016-11-16 100423025 ENSG00000264757 uc021wkq.1 NR_036168 MI0014246 HGNC:38236 +HGNC:41766 MIR3198-2 microRNA 3198-2 non-coding RNA RNA, micro Approved 12q13.13 12q13.13 hsa-mir-3198-2 MicroRNA MIR3198 family 1870 2011-05-02 2016-11-16 100616400 ENSG00000283803 uc021qyo.1 NR_039851 MI0017335 HGNC:41766 +HGNC:38294 MIR3199-1 microRNA 3199-1 non-coding RNA RNA, micro Approved 22q12.1 22q12.1 hsa-mir-3199-1 MicroRNAs 476 2010-04-30 2016-11-16 100423034 ENSG00000264073 uc021wnm.1 NR_036169 MI0014247 HGNC:38294 +HGNC:38205 MIR3199-2 microRNA 3199-2 non-coding RNA RNA, micro Approved 22q12.1 22q12.1 hsa-mir-3199-2 MicroRNAs 476 2010-04-30 2016-11-16 100422998 ENSG00000283225 NR_036170 MI0014248 HGNC:38205 +HGNC:38227 MIR3200 microRNA 3200 non-coding RNA RNA, micro Approved 22q12.2 22q12.2 hsa-mir-3200 MicroRNAs 476 2010-04-30 2019-02-21 100422912 ENSG00000264661 NR_036171 MI0014249 HGNC:38227 +HGNC:38235 MIR3201 microRNA 3201 non-coding RNA RNA, micro Approved 22q13.32 22q13.32 hsa-mir-3201 MicroRNAs 476 2010-04-30 2016-11-16 100422916 ENSG00000266508 uc021wrs.1 NR_036172 MI0014250 HGNC:38235 +HGNC:38224 MIR3202-1 microRNA 3202-1 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-3202-1 MicroRNAs 476 2010-04-30 2016-11-16 100422987 ENSG00000265176 NR_036174 MI0014252 HGNC:38224 +HGNC:38228 MIR3202-2 microRNA 3202-2 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-3202-2 MicroRNAs 476 2010-04-30 2016-11-16 100422877 ENSG00000283694 uc022cia.1 NR_036175 MI0014253 HGNC:38228 +HGNC:41564 MIR3529 microRNA 3529 non-coding RNA RNA, micro Approved 15q26.1 15q26.1 hsa-mir-3529 MicroRNAs 476 2011-05-02 2016-11-16 100616238 ENSG00000283484 NR_039867 MI0017351 HGNC:41564 +HGNC:41875 MIR3591 microRNA 3591 non-coding RNA RNA, micro Approved 18q21.31 18q21.31 "hsa-mir-3591|hsa-mir-122b" MicroRNAs 476 2011-05-02 2019-01-31 100616357 ENSG00000207778 NR_039899 MI0017383 HGNC:41875 +HGNC:38922 MIR3605 microRNA 3605 non-coding RNA RNA, micro Approved 1p35.1 01p35.1 hsa-mir-3605 MicroRNAs 476 2010-09-15 2016-11-16 100500853 ENSG00000284154 NR_037400 MI0015995 HGNC:38922 +HGNC:38881 MIR3606 microRNA 3606 non-coding RNA RNA, micro Approved 2q32.2 02q32.2 hsa-mir-3606 MicroRNAs 476 2010-09-15 2016-11-16 100500837 ENSG00000284180 NR_037401 MI0015996 HGNC:38881 +HGNC:38956 MIR3609 microRNA 3609 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-3609 MicroRNAs 476 2010-09-15 2016-11-16 100500819 ENSG00000266019 uc022ahx.1 NR_037403 MI0015999 HGNC:38956 +HGNC:38942 MIR3610 microRNA 3610 non-coding RNA RNA, micro Approved 8q24.11 08q24.11 hsa-mir-3610 MicroRNAs 476 2010-09-15 2016-11-16 100500914 ENSG00000283956 uc022azz.1 NR_037404 MI0016000 HGNC:38942 +HGNC:38914 MIR3611 microRNA 3611 non-coding RNA RNA, micro Approved 10p11.21 10p11.21 hsa-mir-3611 MicroRNAs 476 2010-09-15 2016-11-16 100500890 ENSG00000266228 uc031wcn.1 NR_037405 MI0016001 HGNC:38914 +HGNC:38951 MIR3612 microRNA 3612 non-coding RNA RNA, micro Approved 12q24.32 12q24.32 hsa-mir-3612 MicroRNAs 476 2010-09-15 2016-11-16 100500817 ENSG00000265635 uc021rgo.1 NR_037406 MI0016002 HGNC:38951 +HGNC:38964 MIR3613 microRNA 3613 non-coding RNA RNA, micro Approved 13q14.2 13q14.2 hsa-mir-3613 MicroRNAs 476 2010-09-15 2019-02-13 100500908 ENSG00000264864 uc021rjp.1 NR_037407 27682205 MI0016003 HGNC:38964 +HGNC:38995 MIR3614 microRNA 3614 non-coding RNA RNA, micro Approved 17q22 17q22 hsa-mir-3614 MicroRNAs 476 2010-09-15 2016-11-16 100500827 ENSG00000284542 uc021uaj.1 NR_037408 MI0016004 HGNC:38995 +HGNC:38905 MIR3615 microRNA 3615 non-coding RNA RNA, micro Approved 17q25.1 17q25.1 hsa-mir-3615 MicroRNAs 476 2010-09-15 2016-11-16 100500847 ENSG00000284186 uc021ucr.1 NR_037409 MI0016005 HGNC:38905 +HGNC:38943 MIR3616 microRNA 3616 non-coding RNA RNA, micro Approved 20q13.12 20q13.12 hsa-mir-3616 MicroRNAs 476 2010-09-15 2016-11-16 100500814 ENSG00000264901 uc021weq.1 NR_037410 MI0016006 HGNC:38943 +HGNC:38977 MIR3617 microRNA 3617 non-coding RNA RNA, micro Approved 20q13.12 20q13.12 hsa-mir-3617 MicroRNAs 476 2010-09-15 2016-11-16 100500897 ENSG00000266071 uc032plc.1 NR_037411 MI0016007 HGNC:38977 +HGNC:38937 MIR3618 microRNA 3618 non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-3618 MicroRNAs 476 2010-09-15 2019-02-21 100500860 ENSG00000284140 uc021wlo.1 NR_037412 MGI:5454349 MI0016008 HGNC:38937 +HGNC:38998 MIR3619 microRNA 3619 non-coding RNA RNA, micro Approved 22q13.31 22q13.31 hsa-mir-3619 MicroRNAs 476 2010-09-15 2016-11-16 100500828 ENSG00000266533 uc021wrm.1 NR_037413 MI0016009 HGNC:38998 +HGNC:38917 MIR3620 microRNA 3620 non-coding RNA RNA, micro Approved 1q42.13 01q42.13 hsa-mir-3620 MicroRNAs 476 2010-09-15 2019-02-21 100500810 ENSG00000284163 uc021pkd.1 NR_037415 MI0016011 HGNC:38917 +HGNC:38930 MIR3621 microRNA 3621 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-3621 MicroRNAs 476 2010-09-15 2016-11-16 100500811 ENSG00000263697 uc022bqc.1 NR_037416 MI0016012 HGNC:38930 +HGNC:38934 MIR3622A microRNA 3622a non-coding RNA RNA, micro Approved 8p21.1 08p21.1 hsa-mir-3622a MicroRNAs 476 2010-09-15 2016-11-16 100500858 ENSG00000284351 NR_037417 MI0016013 HGNC:38934 +HGNC:38961 MIR3622B microRNA 3622b non-coding RNA RNA, micro Approved 8p21.1 08p21.1 hsa-mir-3622b MicroRNAs 476 2010-09-15 2016-11-16 100500871 ENSG00000265075 uc022atf.1 NR_037418 MI0016014 HGNC:38961 +HGNC:38935 MIR3646 microRNA 3646 non-coding RNA RNA, micro Approved 20q13.12 20q13.12 hsa-mir-3646 MicroRNAs 476 2010-09-15 2016-11-16 100500813 ENSG00000266151 uc021wed.1 NR_037419 MI0016046 HGNC:38935 +HGNC:38941 MIR3648-1 microRNA 3648-1 non-coding RNA RNA, micro Approved 21p11.2 21p11.2 hsa-mir-3648 MIR3648 microRNA 3648 MicroRNA MIR3648 family 1871 2010-09-15 2014-06-26 2014-06-26 2016-11-16 100500862 ENSG00000275708 NR_037421 MI0016048 HGNC:38941 +HGNC:50843 MIR3648-2 microRNA 3648-2 non-coding RNA RNA, micro Approved 21p11.2 21p11.2 MicroRNA MIR3648 family 1871 2014-06-26 2016-11-16 103504731 ENSG00000264462 NR_128711 MI0031512 HGNC:50843 +HGNC:38948 MIR3649 microRNA 3649 non-coding RNA RNA, micro Approved 12p13.33 12p13.33 hsa-mir-3649 MicroRNAs 476 2010-09-15 2016-11-16 100500816 ENSG00000266043 uc021qsw.1 NR_037422 MI0016049 HGNC:38948 +HGNC:38981 MIR3650 microRNA 3650 non-coding RNA RNA, micro Approved 5p13.1 05p13.1 hsa-mir-3650 MicroRNAs 476 2010-09-15 2016-11-16 100500824 ENSG00000265304 uc021xxp.1 NR_037423 MI0016050 HGNC:38981 +HGNC:38897 MIR3651 microRNA 3651 non-coding RNA RNA, micro Approved 9q22.31 09q22.31 hsa-mir-3651 MicroRNAs 476 2010-09-15 2016-11-16 100500918 ENSG00000281156 uc010mqv.4 NR_037424 MI0016051 HGNC:38897 +HGNC:38894 MIR3652 microRNA 3652 non-coding RNA RNA, micro Approved 12q23.3 12q23.3 hsa-mir-3652 MicroRNAs 476 2010-09-15 2016-11-16 100500842 ENSG00000284503 uc021rcv.1 NR_037425 MI0016052 HGNC:38894 +HGNC:38896 MIR3654 microRNA 3654 non-coding RNA RNA, micro Approved 7q33 07q33 hsa-mir-3654 MicroRNAs 476 2010-09-15 2016-11-16 100500804 ENSG00000284135 NR_037427 MI0016054 HGNC:38896 +HGNC:38960 MIR3655 microRNA 3655 non-coding RNA RNA, micro Approved 5q31.3 05q31.3 hsa-mir-3655 MicroRNAs 476 2010-09-15 2016-11-16 100500820 ENSG00000284325 uc063hxg.1 NR_037428 MI0016055 HGNC:38960 +HGNC:38906 MIR3657 microRNA 3657 non-coding RNA RNA, micro Approved 12q24.13 12q24.13 hsa-mir-3657 MicroRNAs 476 2010-09-15 2016-11-16 100500889 ENSG00000266370 uc031znp.1 NR_037430 MI0016057 HGNC:38906 +HGNC:38963 MIR3658 microRNA 3658 non-coding RNA RNA, micro Approved 1q24.1 01q24.1 hsa-mir-3658 MicroRNAs 476 2010-09-15 2016-11-16 100500832 ENSG00000283936 NR_037431 MI0016058 HGNC:38963 +HGNC:38882 MIR3659 microRNA 3659 non-coding RNA RNA, micro Approved 1p34.3 01p34.3 hsa-mir-3659 MicroRNAs 476 2010-09-15 2016-11-16 100500801 ENSG00000265596 uc021olo.1 NR_037432 MI0016060 HGNC:38882 +HGNC:54306 MIR3659HG MIR3659 host gene non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 MicroRNA non-coding host genes 1688 2019-05-02 2019-05-02 105378653 ENSG00000224592 NR_168386 HGNC:54306 +HGNC:38985 MIR3660 microRNA 3660 non-coding RNA RNA, micro Approved 5q14.3 05q14.3 hsa-mir-3660 MicroRNAs 476 2010-09-15 2019-02-21 100500825 ENSG00000264342 uc021ybi.2 NR_037433 MI0016061 HGNC:38985 +HGNC:38892 MIR3661 microRNA 3661 non-coding RNA RNA, micro Approved 5q31.1 05q31.1 hsa-mir-3661 MicroRNAs 476 2010-09-15 2016-11-16 100500905 ENSG00000266751 uc021ydo.1 NR_037434 MI0016062 HGNC:38892 +HGNC:38983 MIR3662 microRNA 3662 non-coding RNA RNA, micro Approved 6q23.3 06q23.3 hsa-mir-3662 MicroRNAs 476 2010-09-15 2016-11-16 100500880 ENSG00000283409 NR_037435 MI0016063 HGNC:38983 +HGNC:38958 MIR3663 microRNA 3663 non-coding RNA RNA, micro Approved 10q25.3 10q25.3 hsa-mir-3663 MicroRNAs 476 2010-09-15 2014-11-19 100500893 ENSG00000266782 uc021pzl.1 NR_037436 MI0016064 HGNC:38958 +HGNC:50676 MIR3663HG MIR3663 host gene non-coding RNA RNA, long non-coding Approved 10q25.3 10q25.3 MIR3663 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2014-06-05 2015-02-20 2015-02-20 101927704 ENSG00000234474 OTTHUMG00000019116 BC039338 NR_121650 MIR3663HG HGNC:50676 +HGNC:38899 MIR3664 microRNA 3664 non-coding RNA RNA, micro Approved 11q13.4 11q13.4 hsa-mir-3664 MicroRNAs 476 2010-09-15 2016-11-16 100500844 ENSG00000263744 uc021qms.1 NR_037437 MI0016065 HGNC:38899 +HGNC:38939 MIR3665 microRNA 3665 non-coding RNA RNA, micro Approved 13q22.3 13q22.3 hsa-mir-3665 MicroRNAs 476 2010-09-15 2016-11-16 100500861 ENSG00000266325 uc021rkv.1 NR_037438 MI0016066 HGNC:38939 +HGNC:38940 MIR3666 microRNA 3666 non-coding RNA RNA, micro Approved 7q31.1 07q31.1 hsa-mir-3666 MicroRNAs 476 2010-09-15 2016-11-16 100500896 ENSG00000272230 uc022ake.1 NR_037439 MI0016067 HGNC:38940 +HGNC:38990 MIR3667 microRNA 3667 non-coding RNA RNA, micro Approved 22q13.33 22q13.33 hsa-mir-3667 MicroRNAs 476 2010-09-15 2016-11-16 100500882 ENSG00000264139 uc032qro.1 NR_037440 MI0016068 HGNC:38990 +HGNC:28010 MIR3667HG MIR3667 host gene non-coding RNA RNA, long non-coding Approved 22q13.33 22q13.33 C22orf34 "chromosome 22 open reading frame 34|chromosome 22 putative open reading frame 34" MicroRNA non-coding host genes 1688 2006-07-06 2021-02-22 2021-02-22 2021-02-22 348645 ENSG00000188511 OTTHUMG00000030424 uc003biq.4 BC048207 NR_026997 12477932 HGNC:28010 +HGNC:38982 MIR3668 microRNA 3668 non-coding RNA RNA, micro Approved 6q24.1 06q24.1 hsa-mir-3668 MicroRNAs 476 2010-09-15 2016-11-16 100500879 ENSG00000263514 uc021zgd.1 NR_037441 MI0016069 HGNC:38982 +HGNC:38997 MIR3670-1 microRNA 3670-1 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-3670 MIR3670 microRNA 3670 MicroRNA MIR3670 family 1872 2010-09-15 2011-11-14 2011-11-14 2014-11-18 100500910 ENSG00000263918 uc032dry.1 NR_037442 MI0016071 HGNC:38997 +HGNC:43460 MIR3670-2 microRNA 3670-2 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-3670-2 MicroRNA MIR3670 family 1872 2011-11-14 2013-05-13 100846994 ENSG00000264722 uc032dsm.1 NR_049832 MI0019112 HGNC:43460 +HGNC:50829 MIR3670-3 microRNA 3670-3 non-coding RNA RNA, micro Approved 16p12.3 16p12.3 MicroRNA MIR3670 family 1872 2014-06-26 2016-11-16 103504726 ENSG00000265776 NR_128712 MI0031513 HGNC:50829 +HGNC:50828 MIR3670-4 microRNA 3670-4 non-coding RNA RNA, micro Approved 16p12.3 16p12.3 MicroRNA MIR3670 family 1872 2014-06-26 2016-11-16 103504740 ENSG00000274025 NR_128713 MI0031514 HGNC:50828 +HGNC:38925 MIR3671 microRNA 3671 non-coding RNA RNA, micro Approved 1p31.3 01p31.3 hsa-mir-3671 MicroRNAs 476 2010-09-15 2016-11-16 100500854 ENSG00000265996 uc021ook.1 NR_037443 MI0016072 HGNC:38925 +HGNC:38957 MIR3672 microRNA 3672 non-coding RNA RNA, micro Approved Xq24 Xq24 hsa-mir-3672 MicroRNAs 476 2010-09-15 2016-11-16 100500869 ENSG00000265456 uc033ete.1 NR_037444 MI0016073 HGNC:38957 +HGNC:38915 MIR3674 microRNA 3674 non-coding RNA RNA, micro Approved 8p23.3 08p23.3 hsa-mir-3674 MicroRNAs 476 2010-09-15 2016-11-16 100500912 ENSG00000283858 NR_037445 MI0016075 HGNC:38915 +HGNC:38973 MIR3675 microRNA 3675 non-coding RNA RNA, micro Approved 1p36.13 01p36.13 hsa-mir-3675 MicroRNAs 476 2010-09-15 2016-11-16 100500876 ENSG00000263811 uc021ohc.1 NR_037446 MI0016076 HGNC:38973 +HGNC:38932 MIR3677 microRNA 3677 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-3677 MicroRNAs 476 2010-09-15 2016-11-16 100500812 ENSG00000266643 uc021tas.1 NR_037448 MI0016078 HGNC:38932 +HGNC:55382 MIR3677HG MIR3677 and MIR940 host gene non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 MicroRNA non-coding host genes 1688 2020-12-09 2020-12-09 106660606 ENSG00000260778 NR_132988 +HGNC:38891 MIR3678 microRNA 3678 non-coding RNA RNA, micro Approved 17q25.1 17q25.1 hsa-mir-3678 MicroRNAs 476 2010-09-15 2016-11-16 100500841 ENSG00000264511 uc021ucz.1 NR_037449 MI0016079 HGNC:38891 +HGNC:38979 MIR3679 microRNA 3679 non-coding RNA RNA, micro Approved 2q21.2 02q21.2 hsa-mir-3679 MicroRNAs 476 2010-09-15 2016-11-16 100500878 ENSG00000263813 uc021vpy.1 NR_037450 MI0016080 HGNC:38979 +HGNC:38989 MIR3680-1 microRNA 3680-1 non-coding RNA RNA, micro Approved 16p12.2 16p12.2 hsa-mir-3680 MIR3680 microRNA 3680 MicroRNA MIR3680 family 1874 2010-09-15 2011-11-14 2011-11-14 2016-11-16 100500917 ENSG00000265462 uc032duc.1 NR_037451 MI0016081 HGNC:38989 +HGNC:43472 MIR3680-2 microRNA 3680-2 non-coding RNA RNA, micro Approved 16p11.2 16p11.2 hsa-mir-3680-2 MicroRNA MIR3680 family 1874 2011-11-14 2016-11-16 100847041 ENSG00000266758 uc032dwx.1 NR_049833 MI0019113 HGNC:43472 +HGNC:38994 MIR3681 microRNA 3681 non-coding RNA RNA, micro Approved 2p24.3 02p24.3 hsa-mir-3681 MicroRNAs 476 2010-09-15 2016-11-16 100500884 ENSG00000264089 uc032nev.1 NR_037452 MI0016082 HGNC:38994 +HGNC:52001 MIR3681HG MIR3681 host gene non-coding RNA RNA, long non-coding Approved 2p24.3 02p24.3 MicroRNA non-coding host genes 1688 2015-10-14 2015-10-14 100506457 ENSG00000224184 OTTHUMG00000151709 NR_110196 MIR3681HG HGNC:52001 +HGNC:38916 MIR3682 microRNA 3682 non-coding RNA RNA, micro Approved 2p16.2 02p16.2 hsa-mir-3682 MicroRNAs 476 2010-09-15 2016-11-16 100500850 ENSG00000265452 uc021vhm.1 NR_037453 MI0016083 HGNC:38916 +HGNC:38999 MIR3683 microRNA 3683 non-coding RNA RNA, micro Approved 7p22.1 07p22.1 hsa-mir-3683 MicroRNAs 476 2010-09-15 2016-11-16 100500886 ENSG00000266287 uc032zdj.1 NR_037454 MI0016084 HGNC:38999 +HGNC:38950 MIR3684 microRNA 3684 non-coding RNA RNA, micro Approved 4q23 04q23 hsa-mir-3684 MicroRNAs 476 2010-09-15 2016-11-16 100500867 ENSG00000265213 uc021xqh.1 NR_037455 MI0016085 HGNC:38950 +HGNC:38886 MIR3685 microRNA 3685 non-coding RNA RNA, micro Approved 12q22 12q22 hsa-mir-3685 MicroRNAs 476 2010-09-15 2016-11-16 100500802 ENSG00000265917 uc001teb.3 NR_037456 MI0016086 HGNC:38886 +HGNC:38887 MIR3686 microRNA 3686 non-coding RNA RNA, micro Approved 8q24.21 08q24.21 hsa-mir-3686 MicroRNAs 476 2010-09-15 2016-11-16 100500839 ENSG00000263763 uc033bzi.1 NR_037457 MI0016087 HGNC:38887 +HGNC:38986 MIR3688-1 microRNA 3688-1 non-coding RNA RNA, micro Approved 4q32.1 04q32.1 "hsa-mir-3688|hsa-mir-3688-1" MIR3688 microRNA 3688 MicroRNAs 476 2010-09-15 2011-05-06 2011-05-06 2016-10-25 100500881 ENSG00000264105 NR_037459 MI0016089 HGNC:38986 +HGNC:41735 MIR3688-2 microRNA 3688-2 non-coding RNA RNA, micro Approved 4q32.1 04q32.1 hsa-mir-3688-2 MicroRNAs 476 2011-05-02 2016-10-25 100616303 ENSG00000283379 uc021xtt.1 NR_039963 MI0017447 HGNC:41735 +HGNC:38904 MIR3689A microRNA 3689a non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-3689a MicroRNAs 476 2010-09-15 2016-11-16 100500846 ENSG00000265872 uc064wxq.1 NR_037460 MI0016090 HGNC:38904 +HGNC:38924 MIR3689B microRNA 3689b non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-3689b MicroRNAs 476 2010-09-15 2016-11-16 100500906 ENSG00000264163 uc022bpe.1 NR_037469 MI0016411 HGNC:38924 +HGNC:41816 MIR3689C microRNA 3689c non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-3689c MicroRNAs 476 2011-05-02 2016-11-16 100616333 ENSG00000264744 uc022bpc.1 NR_039691 MI0016832 HGNC:41816 +HGNC:41621 MIR3689D1 microRNA 3689d-1 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-3689d-1 MicroRNAs 476 2011-05-02 2016-11-16 100616131 ENSG00000265848 uc022bpd.1 NR_039693 MI0016834 HGNC:41621 +HGNC:41846 MIR3689D2 microRNA 3689d-2 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-3689d-2 MicroRNAs 476 2011-05-02 2016-11-16 100616344 ENSG00000264136 uc022bpf.1 NR_039694 MI0016835 HGNC:41846 +HGNC:41887 MIR3689E microRNA 3689e non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-3689e MicroRNAs 476 2011-05-02 2016-11-16 100616460 ENSG00000266827 uc022bpg.1 NR_039695 MI0016836 HGNC:41887 +HGNC:41702 MIR3689F microRNA 3689f non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-3689f MicroRNAs 476 2011-05-02 2016-11-16 100616212 ENSG00000266514 uc022bph.1 NR_039696 MI0016837 HGNC:41702 +HGNC:38967 MIR3690 microRNA 3690 non-coding RNA RNA, micro Approved Xp22.32 and Yp11.3 Xp22.32 and Yp11.3 "hsa-mir-3690|hsa-mir-3690-2" "MIR3690-2|MIR3690-1" "microRNA 3690-2|microRNA 3690-1" "MicroRNAs|Pseudoautosomal region 1" "476|715" 2010-09-15 2014-04-28 2014-04-28 2015-02-27 100500894 ENSG00000265658 uc022cis.1 NR_037461 MI0016091 HGNC:38967 +HGNC:38909 MIR3691 microRNA 3691 non-coding RNA RNA, micro Approved 6p25.1 06p25.1 hsa-mir-3691 MicroRNAs 476 2010-09-15 2016-11-16 100500900 ENSG00000265083 uc021ykv.1 NR_037462 MI0016092 HGNC:38909 +HGNC:38885 MIR3692 microRNA 3692 non-coding RNA RNA, micro Approved 6q25.3 06q25.3 hsa-mir-3692 MicroRNAs 476 2010-09-15 2016-11-16 100500899 ENSG00000266617 uc021zhk.1 NR_037463 MI0016093 HGNC:38885 +HGNC:38926 MIR3713 microRNA 3713 non-coding RNA RNA, micro Approved 15q24.3 15q24.3 hsa-mir-3713 MicroRNAs 476 2010-09-15 2016-11-16 100500855 ENSG00000266449 uc032ckl.1 NR_037464 MI0016134 HGNC:38926 +HGNC:38928 MIR3714 microRNA 3714 non-coding RNA RNA, micro Approved 3p24.3 03p24.3 hsa-mir-3714 MicroRNAs 476 2010-09-15 2016-11-16 100500913 ENSG00000283885 uc021wts.1 NR_037465 MI0016135 HGNC:38928 +HGNC:38988 MIR3907 microRNA 3907 non-coding RNA RNA, micro Approved 7q36.1 07q36.1 hsa-mir-3907 MicroRNAs 476 2010-09-15 2016-11-16 100500835 ENSG00000265810 uc022aqe.1 NR_037468 MI0016410 HGNC:38988 +HGNC:38991 MIR3908 microRNA 3908 non-coding RNA RNA, micro Approved 12q24.31 12q24.31 hsa-mir-3908 MicroRNAs 476 2010-09-15 2016-11-16 100500909 ENSG00000266655 uc021rfx.1 NR_037470 MI0016412 HGNC:38991 +HGNC:38987 MIR3909 microRNA 3909 non-coding RNA RNA, micro Approved 22q12.3 22q12.3 hsa-mir-3909 MicroRNAs 476 2010-09-15 2016-11-16 100500826 ENSG00000266320 uc021woj.1 NR_037471 MI0016413 HGNC:38987 +HGNC:38966 MIR3910-1 microRNA 3910-1 non-coding RNA RNA, micro Approved 9q22.31 09q22.31 hsa-mir-3910-1 MicroRNAs 476 2010-09-15 2016-11-16 100500821 ENSG00000266855 uc022bju.1 NR_037472 MI0016414 HGNC:38966 +HGNC:38952 MIR3910-2 microRNA 3910-2 non-coding RNA RNA, micro Approved 9q22.31 09q22.31 hsa-mir-3910-2 MicroRNAs 476 2010-09-15 2016-11-16 100500902 ENSG00000283351 NR_037489 MI0016431 HGNC:38952 +HGNC:38962 MIR3911 microRNA 3911 non-coding RNA RNA, micro Approved 9q34.11 09q34.11 hsa-mir-3911 MicroRNAs 476 2010-09-15 2016-11-16 100500872 ENSG00000283874 uc022bnp.1 NR_037473 MI0016415 HGNC:38962 +HGNC:38923 MIR3912 microRNA 3912 non-coding RNA RNA, micro Approved 5q35.1 05q35.1 hsa-mir-3912 MicroRNAs 476 2010-09-15 2016-11-16 100500831 ENSG00000264249 uc021yhq.1 NR_037474 MI0016416 HGNC:38923 +HGNC:38884 MIR3913-1 microRNA 3913-1 non-coding RNA RNA, micro Approved 12q15 12q15 hsa-mir-3913-1 MicroRNAs 476 2010-09-15 2016-11-16 100500903 ENSG00000264405 NR_037475 MI0016417 HGNC:38884 +HGNC:38953 MIR3913-2 microRNA 3913-2 non-coding RNA RNA, micro Approved 12q15 12q15 hsa-mir-3913-2 MicroRNAs 476 2010-09-15 2016-11-16 100500868 ENSG00000283677 uc021ram.1 NR_037476 MI0016418 HGNC:38953 +HGNC:38993 MIR3914-1 microRNA 3914-1 non-coding RNA RNA, micro Approved 7q11.22 07q11.22 hsa-mir-3914-1 MicroRNAs 476 2010-09-15 2016-11-16 100500836 ENSG00000265878 NR_037477 MI0016419 HGNC:38993 +HGNC:38975 MIR3914-2 microRNA 3914-2 non-coding RNA RNA, micro Approved 7q11.22 07q11.22 hsa-mir-3914-2 MicroRNAs 476 2010-09-15 2016-11-16 100500920 ENSG00000283278 uc022afh.1 NR_037479 MI0016421 HGNC:38975 +HGNC:38955 MIR3915 microRNA 3915 non-coding RNA RNA, micro Approved Xp21.1 Xp21.1 hsa-mir-3915 MicroRNAs 476 2010-09-15 2016-11-16 100500915 ENSG00000263600 uc033dxk.1 NR_037478 MI0016420 HGNC:38955 +HGNC:38912 MIR3916 microRNA 3916 non-coding RNA RNA, micro Approved 1q44 01q44 hsa-mir-3916 MicroRNAs 476 2010-09-15 2016-11-16 100500849 ENSG00000283881 uc021pma.1 NR_037480 MI0016422 HGNC:38912 +HGNC:38911 MIR3917 microRNA 3917 non-coding RNA RNA, micro Approved 1p36.11 01p36.11 hsa-mir-3917 MicroRNAs 476 2010-09-15 2016-11-16 100500808 ENSG00000283938 uc021ojn.1 NR_037481 MI0016423 HGNC:38911 +HGNC:38919 MIR3918 microRNA 3918 non-coding RNA RNA, micro Approved 6q25.3 06q25.3 hsa-mir-3918 MicroRNAs 476 2010-09-15 2016-11-16 100500851 ENSG00000265558 uc021zho.1 NR_037482 MI0016424 HGNC:38919 +HGNC:38890 MIR3919 microRNA 3919 non-coding RNA RNA, micro Approved 3q25.32 03q25.32 hsa-mir-3919 MicroRNAs 476 2010-09-15 2016-11-16 100500803 ENSG00000263634 uc021xgn.1 NR_037483 MI0016425 HGNC:38890 +HGNC:38974 MIR3920 microRNA 3920 non-coding RNA RNA, micro Approved 11q22.1 11q22.1 hsa-mir-3920 MicroRNAs 476 2010-09-15 2016-11-16 100500823 ENSG00000263885 uc021qpe.1 NR_037485 MI0016427 HGNC:38974 +HGNC:38936 MIR3921 microRNA 3921 non-coding RNA RNA, micro Approved 3q12.1 03q12.1 hsa-mir-3921 MicroRNAs 476 2010-09-15 2016-11-16 100500859 ENSG00000264897 uc021xbs.1 NR_037486 MI0016428 HGNC:38936 +HGNC:38895 MIR3922 microRNA 3922 non-coding RNA RNA, micro Approved 12q23.3 12q23.3 hsa-mir-3922 MicroRNAs 476 2010-09-15 2016-11-16 100500843 ENSG00000264295 uc021rdd.1 NR_037487 MI0016429 HGNC:38895 +HGNC:38978 MIR3923 microRNA 3923 non-coding RNA RNA, micro Approved 3p12.3 03p12.3 hsa-mir-3923 MicroRNAs 476 2010-09-15 2016-11-16 100500877 ENSG00000265193 uc032rsd.1 NR_037488 MI0016430 HGNC:38978 +HGNC:38984 MIR3924 microRNA 3924 non-coding RNA RNA, micro Approved 10q21.1 10q21.1 hsa-mir-3924 MicroRNAs 476 2010-09-15 2016-11-16 100500834 ENSG00000264747 uc021prb.1 NR_037490 MI0016432 HGNC:38984 +HGNC:38996 MIR3925 microRNA 3925 non-coding RNA RNA, micro Approved 6p21.2 06p21.2 hsa-mir-3925 MicroRNAs 476 2010-09-15 2016-11-16 100500885 ENSG00000263894 uc021yza.1 NR_037491 MI0016433 HGNC:38996 +HGNC:38959 MIR3926-1 microRNA 3926-1 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-3926-1 MicroRNAs 476 2010-09-15 2016-11-16 100500870 ENSG00000266206 NR_037492 MI0016434 HGNC:38959 +HGNC:38883 MIR3926-2 microRNA 3926-2 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-3926-2 MicroRNAs 476 2010-09-15 2016-11-16 100500838 ENSG00000283523 uc022asd.1 NR_037495 MI0016437 HGNC:38883 +HGNC:38901 MIR3927 microRNA 3927 non-coding RNA RNA, micro Approved 9q31.3 09q31.3 hsa-mir-3927 MicroRNAs 476 2010-09-15 2016-11-16 100500898 ENSG00000263861 uc033dfa.1 NR_037493 MI0016435 HGNC:38901 +HGNC:38933 MIR3928 microRNA 3928 non-coding RNA RNA, micro Approved 22q12.2 22q12.2 hsa-mir-3928 MicroRNAs 476 2010-09-15 2016-11-16 100500901 ENSG00000264141 uc021wny.1 NR_037496 MI0016438 HGNC:38933 +HGNC:38945 MIR3929 microRNA 3929 non-coding RNA RNA, micro Approved 18q12.2 18q12.2 hsa-mir-3929 MicroRNAs 476 2010-09-15 2016-11-16 100500864 ENSG00000265641 uc032hbv.1 NR_037497 MI0016439 HGNC:38945 +HGNC:38965 MIR3934 microRNA 3934 non-coding RNA RNA, micro Approved 6p21.31 06p21.31 hsa-mir-3934 MicroRNAs 476 2010-09-15 2016-11-16 100500873 ENSG00000266509 uc032wsw.1 NR_037498 MI0016590 HGNC:38965 +HGNC:38918 MIR3935 microRNA 3935 non-coding RNA RNA, micro Approved 16q13 16q13 hsa-mir-3935 MicroRNAs 476 2010-09-15 2016-11-16 100500891 ENSG00000265281 uc021tis.1 NR_037499 MI0016591 HGNC:38918 +HGNC:38947 MIR3936 microRNA 3936 non-coding RNA RNA, micro Approved 5q31.1 05q31.1 hsa-mir-3936 MicroRNAs 476 2010-09-15 2017-03-10 100500865 ENSG00000263597 uc021ydk.1 NR_037500 MI0016592 HGNC:38947 +HGNC:40538 MIR3936HG MIR3936 host gene non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 "LOC553103|SLC22A5-AS1" SLC22A5 and SLC22A4 antisense RNA 1 MicroRNA non-coding host genes 1688 2017-03-10 2017-03-10 553103 ENSG00000233006 OTTHUMG00000059646 NR_110997 27584792 HGNC:40538 +HGNC:38970 MIR3937 microRNA 3937 non-coding RNA RNA, micro Approved Xp11.4 Xp11.4 hsa-mir-3937 MicroRNAs 476 2010-09-15 2016-11-16 100500822 ENSG00000263730 uc033dzt.1 NR_037501 MI0016593 HGNC:38970 +HGNC:38972 MIR3938 microRNA 3938 non-coding RNA RNA, micro Approved 3p14.3 03p14.3 hsa-mir-3938 MicroRNAs 476 2010-09-15 2016-11-16 100500875 ENSG00000264013 uc021wzp.1 NR_037502 MI0016594 HGNC:38972 +HGNC:38931 MIR3939 microRNA 3939 non-coding RNA RNA, micro Approved 6q27 06q27 hsa-mir-3939 MicroRNAs 476 2010-09-15 2016-11-16 100500857 ENSG00000265828 uc021zih.1 NR_037504 MI0016596 HGNC:38931 +HGNC:38893 MIR3940 microRNA 3940 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-3940 MicroRNAs 476 2010-09-15 2016-11-16 100500888 ENSG00000284159 uc021unp.1 NR_037505 MI0016597 HGNC:38893 +HGNC:38949 MIR3941 microRNA 3941 non-coding RNA RNA, micro Approved 10q26.13 10q26.13 hsa-mir-3941 MicroRNAs 476 2010-09-15 2016-11-16 100500866 ENSG00000265442 uc021qad.1 NR_037506 MI0016598 HGNC:38949 +HGNC:38976 MIR3942 microRNA 3942 non-coding RNA RNA, micro Approved 15q14 15q14 hsa-mir-3942 MicroRNAs 476 2010-09-15 2016-11-16 100500904 ENSG00000265102 uc021siz.1 NR_037507 MI0016599 HGNC:38976 +HGNC:38888 MIR3943 microRNA 3943 non-coding RNA RNA, micro Approved 7p14.1 07p14.1 hsa-mir-3943 MicroRNAs 476 2010-09-15 2016-11-16 100500829 ENSG00000264069 uc022acf.2 NR_037508 MI0016600 HGNC:38888 +HGNC:38898 MIR3944 microRNA 3944 non-coding RNA RNA, micro Approved 10q26.3 10q26.3 hsa-mir-3944 MicroRNAs 476 2010-09-15 2016-11-16 100500911 ENSG00000265395 uc021qbg.1 NR_037509 MI0016601 HGNC:38898 +HGNC:38954 MIR3945 microRNA 3945 non-coding RNA RNA, micro Approved 4q35.1 04q35.1 hsa-mir-3945 MicroRNAs 476 2010-09-15 2016-11-16 100500818 ENSG00000266698 uc021xvg.1 NR_037510 MI0016602 HGNC:38954 +HGNC:52002 MIR3945HG MIR3945 host gene non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 MicroRNA non-coding host genes 1688 2015-10-14 2015-10-14 731424 ENSG00000251230 OTTHUMG00000160604 NR_037867 MIR3945HG HGNC:52002 +HGNC:41595 MIR3960 microRNA 3960 non-coding RNA RNA, micro Approved 9q34.11 09q34.11 hsa-mir-3960 MicroRNAs 476 2011-05-02 2016-11-16 100616250 ENSG00000283863 uc064vxi.1 NR_039767 MI0016964 HGNC:41595 +HGNC:41876 MIR3972 microRNA 3972 non-coding RNA RNA, micro Approved 1p36.13 01p36.13 hsa-mir-3972 MicroRNAs 476 2011-05-02 2016-11-16 100616188 ENSG00000266634 uc031tre.1 NR_039768 MI0016990 HGNC:41876 +HGNC:41756 MIR3973 microRNA 3973 non-coding RNA RNA, micro Approved 11p13 11p13 hsa-mir-3973 MicroRNAs 476 2011-05-02 2016-11-16 100616311 ENSG00000263389 uc021qga.1 NR_039769 MI0016991 HGNC:41756 +HGNC:41672 MIR3974 microRNA 3974 non-coding RNA RNA, micro Approved 12p12.3 12p12.3 hsa-mir-3974 MicroRNAs 476 2011-05-02 2016-11-16 100616279 ENSG00000283665 NR_039770 MI0016992 HGNC:41672 +HGNC:41613 MIR3975 microRNA 3975 non-coding RNA RNA, micro Approved 18q12.2 18q12.2 hsa-mir-3975 MicroRNAs 476 2011-05-02 2016-11-16 100616257 ENSG00000283514 NR_039771 MI0016993 HGNC:41613 +HGNC:41578 MIR3976 microRNA 3976 non-coding RNA RNA, micro Approved 18p11.31 18p11.31 hsa-mir-3976 MicroRNAs 476 2011-05-02 2016-11-16 100616244 ENSG00000272380 uc021ugp.1 NR_039772 MI0016994 HGNC:41578 +HGNC:51104 MIR3976HG MIR3976 host gene non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 LINC01469 long intergenic non-protein coding RNA 1469 MIR3976 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2014-07-29 2015-02-20 2015-02-20 645355 ENSG00000261738 OTTHUMG00000176112 NR_038839 MIR3976HG HGNC:51104 +HGNC:41721 MIR3977 microRNA 3977 non-coding RNA RNA, micro Approved 5q14.2 05q14.2 hsa-mir-3977 MicroRNAs 476 2011-05-02 2016-11-16 100616297 ENSG00000283359 NR_039773 MI0016995 HGNC:41721 +HGNC:41630 MIR3978 microRNA 3978 non-coding RNA RNA, micro Approved Xq23 Xq23 hsa-mir-3978 MicroRNAs 476 2011-05-02 2016-11-16 100616491 ENSG00000265584 uc022ccj.1 NR_039774 MI0016996 HGNC:41630 +HGNC:38370 MIR4251 microRNA 4251 non-coding RNA RNA, micro Approved 1p36.32 01p36.32 hsa-mir-4251 MicroRNAs 476 2010-04-30 2016-11-16 100422968 ENSG00000283572 NR_036215 MI0015861 HGNC:38370 +HGNC:38384 MIR4252 microRNA 4252 non-coding RNA RNA, micro Approved 1p36.31 01p36.31 hsa-mir-4252 MicroRNAs 476 2010-04-30 2016-11-16 100422975 ENSG00000265392 uc021ofo.1 NR_036218 MI0015864 HGNC:38384 +HGNC:38231 MIR4253 microRNA 4253 non-coding RNA RNA, micro Approved 1p36.12 01p36.12 hsa-mir-4253 MicroRNAs 476 2010-04-30 2016-11-16 100422914 ENSG00000264014 uc021oic.1 NR_036214 MI0015860 HGNC:38231 +HGNC:38193 MIR4254 microRNA 4254 non-coding RNA RNA, micro Approved 1p35.2 01p35.2 hsa-mir-4254 MicroRNAs 476 2010-04-30 2016-11-16 100423028 ENSG00000266580 uc021okr.1 NR_036216 MI0015862 HGNC:38193 +HGNC:38187 MIR4255 microRNA 4255 non-coding RNA RNA, micro Approved 1p34.3 01p34.3 hsa-mir-4255 MicroRNAs 476 2010-04-30 2016-11-16 100422898 ENSG00000264698 uc021oll.1 NR_036217 MI0015863 HGNC:38187 +HGNC:38388 MIR4256 microRNA 4256 non-coding RNA RNA, micro Approved 1p13.2 01p13.2 hsa-mir-4256 MicroRNAs 476 2010-04-30 2016-11-16 100422976 ENSG00000283296 NR_036210 MI0015855 HGNC:38388 +HGNC:38312 MIR4257 microRNA 4257 non-coding RNA RNA, micro Approved 1q21.2 01q21.2 hsa-mir-4257 MicroRNAs 476 2010-04-30 2016-11-16 100422997 ENSG00000264553 uc021oye.1 NR_036211 MI0015856 HGNC:38312 +HGNC:38281 MIR4258 microRNA 4258 non-coding RNA RNA, micro Approved 1q21.3 01q21.3 hsa-mir-4258 MicroRNAs 476 2010-04-30 2016-11-16 100423020 ENSG00000264349 uc021pai.1 NR_036212 MI0015857 HGNC:38281 +HGNC:38309 MIR4259 microRNA 4259 non-coding RNA RNA, micro Approved 1q23.2 01q23.2 hsa-mir-4259 MicroRNAs 476 2010-04-30 2016-11-16 100422852 ENSG00000266458 uc057mhz.1 NR_130464 MI0015858 HGNC:38309 +HGNC:38179 MIR4260 microRNA 4260 non-coding RNA RNA, micro Approved 1q32.2 01q32.2 hsa-mir-4260 MicroRNAs 476 2010-04-30 2016-11-16 100422894 ENSG00000283876 uc021pil.1 NR_036213 MI0015859 HGNC:38179 +HGNC:38272 MIR4261 microRNA 4261 non-coding RNA RNA, micro Approved 2p25.1 02p25.1 hsa-mir-4261 MicroRNAs 476 2010-04-30 2016-11-16 100422929 ENSG00000265418 uc021vdt.1 NR_036222 MI0015868 HGNC:38272 +HGNC:38308 MIR4262 microRNA 4262 non-coding RNA RNA, micro Approved 2p25.1 02p25.1 hsa-mir-4262 MicroRNAs 476 2010-04-30 2016-11-16 100422996 ENSG00000265172 uc021vea.1 NR_036226 MI0015872 HGNC:38308 +HGNC:38365 MIR4263 microRNA 4263 non-coding RNA RNA, micro Approved 2p23.2 02p23.2 hsa-mir-4263 MicroRNAs 476 2010-04-30 2016-11-16 100422965 ENSG00000265321 uc021vff.1 NR_036230 MI0015876 HGNC:38365 +HGNC:38338 MIR4264 microRNA 4264 non-coding RNA RNA, micro Approved 2p12 02p12 hsa-mir-4264 MicroRNAs 476 2010-04-30 2016-11-16 100422888 ENSG00000266436 uc021vjs.1 NR_036231 MI0015877 HGNC:38338 +HGNC:38358 MIR4265 microRNA 4265 non-coding RNA RNA, micro Approved 2q13 02q13 hsa-mir-4265 MicroRNAs 476 2010-04-30 2016-11-16 100422863 ENSG00000264934 uc021vlw.1 NR_036223 MI0015869 HGNC:38358 +HGNC:38175 MIR4266 microRNA 4266 non-coding RNA RNA, micro Approved 2q13 02q13 hsa-mir-4266 MicroRNAs 476 2010-04-30 2016-11-16 100423027 ENSG00000265965 uc021vlx.1 NR_036224 MI0015870 HGNC:38175 +HGNC:38286 MIR4267 microRNA 4267 non-coding RNA RNA, micro Approved 2q13 02q13 hsa-mir-4267 MicroRNAs 476 2010-04-30 2016-11-16 100422994 ENSG00000265682 uc021vmd.1 NR_036225 MI0015871 HGNC:38286 +HGNC:38352 MIR4268 microRNA 4268 non-coding RNA RNA, micro Approved 2q35 02q35 hsa-mir-4268 MicroRNAs 476 2010-04-30 2016-11-16 100422959 ENSG00000266518 uc021vxd.1 NR_036228 MI0015874 HGNC:38352 +HGNC:38291 MIR4269 microRNA 4269 non-coding RNA RNA, micro Approved 2q37.3 02q37.3 hsa-mir-4269 MicroRNAs 476 2010-04-30 2016-11-16 100423043 ENSG00000265215 uc021vza.1 NR_036229 MI0015875 HGNC:38291 +HGNC:38377 MIR4270 microRNA 4270 non-coding RNA RNA, micro Approved 3p25.1 03p25.1 hsa-mir-4270 MicroRNAs 476 2010-04-30 2016-11-16 100422868 ENSG00000263573 uc021wto.1 NR_036232 MI0015878 HGNC:38377 +HGNC:38332 MIR4271 microRNA 4271 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-4271 MicroRNAs 476 2010-04-30 2016-11-16 100422952 ENSG00000264633 uc021wxu.1 NR_036233 617176 MI0015879 HGNC:38332 +HGNC:38303 MIR4272 microRNA 4272 non-coding RNA RNA, micro Approved 3p14.1 03p14.1 hsa-mir-4272 MicroRNAs 476 2010-04-30 2016-11-16 100422941 ENSG00000283298 NR_036234 MI0015880 HGNC:38303 +HGNC:38339 MIR4273 microRNA 4273 non-coding RNA RNA, micro Approved 3p12.3 03p12.3 hsa-mir-4273 MicroRNAs 476 2010-04-30 2016-11-16 100422955 ENSG00000266396 uc021xas.1 NR_036235 MI0015881 HGNC:38339 +HGNC:38194 MIR4274 microRNA 4274 non-coding RNA RNA, micro Approved 4p16.1 04p16.1 hsa-mir-4274 MicroRNAs 476 2010-04-30 2016-11-16 100422826 ENSG00000266690 uc021xlh.1 NR_036238 MI0015884 HGNC:38194 +HGNC:38293 MIR4275 microRNA 4275 non-coding RNA RNA, micro Approved 4p15.1 04p15.1 hsa-mir-4275 MicroRNAs 476 2010-04-30 2016-11-16 100422937 ENSG00000283275 NR_036237 MI0015883 HGNC:38293 +HGNC:38232 MIR4276 microRNA 4276 non-coding RNA RNA, micro Approved 4q34.1 04q34.1 hsa-mir-4276 MicroRNAs 476 2010-04-30 2016-11-16 100423042 ENSG00000265846 uc021xul.1 NR_036236 616274 MI0015882 HGNC:38232 +HGNC:38367 MIR4277 microRNA 4277 non-coding RNA RNA, micro Approved 5p15.33 05p15.33 hsa-mir-4277 MicroRNAs 476 2010-04-30 2016-11-16 100422966 ENSG00000263746 uc021xwg.1 NR_036240 MI0015886 HGNC:38367 +HGNC:38243 MIR4278 microRNA 4278 non-coding RNA RNA, micro Approved 5p15.31 05p15.31 hsa-mir-4278 MicroRNAs 476 2010-04-30 2016-11-16 100422999 ENSG00000283420 NR_036242 MI0015888 HGNC:38243 +HGNC:38195 MIR4279 microRNA 4279 non-coding RNA RNA, micro Approved 5p13.3 05p13.3 hsa-mir-4279 MicroRNAs 476 2010-04-30 2016-11-16 100422874 ENSG00000266243 uc021xxb.1 NR_036241 MI0015887 HGNC:38195 +HGNC:38334 MIR4280 microRNA 4280 non-coding RNA RNA, micro Approved 5q14.3 05q14.3 hsa-mir-4280 MicroRNAs 476 2010-04-30 2014-11-19 100422887 ENSG00000265919 uc021ybb.1 NR_036243 MI0015889 HGNC:38334 +HGNC:54975 MIR4280HG MIR4280 host gene non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 MicroRNA non-coding host genes 1688 2020-05-13 2020-05-13 117751736 ENSG00000233828 +HGNC:38357 MIR4281 microRNA 4281 non-coding RNA RNA, micro Approved 5q35.2 05q35.2 hsa-mir-4281 MicroRNAs 476 2010-04-30 2016-11-16 100422962 ENSG00000266329 uc021yik.1 NR_036239 MI0015885 HGNC:38357 +HGNC:38189 MIR4282 microRNA 4282 non-coding RNA RNA, micro Approved 6q13 06q13 hsa-mir-4282 MicroRNAs 476 2010-04-30 2016-11-16 100423005 ENSG00000266180 uc021zbr.1 NR_036244 MI0015890 HGNC:38189 +HGNC:38238 MIR4283-1 microRNA 4283-1 non-coding RNA RNA, micro Approved 7p11.2 07p11.2 hsa-mir-4283-1 MicroRNAs 476 2010-04-30 2016-11-16 100422917 ENSG00000264426 uc022aea.1 NR_036246 MI0015892 HGNC:38238 +HGNC:38296 MIR4283-2 microRNA 4283-2 non-coding RNA RNA, micro Approved 7q11.21 07q11.21 hsa-mir-4283-2 MicroRNAs 476 2010-04-30 2016-11-16 100422848 ENSG00000265214 uc022aes.1 NR_036270 MI0015982 HGNC:38296 +HGNC:38322 MIR4284 microRNA 4284 non-coding RNA RNA, micro Approved 7q11.23 07q11.23 hsa-mir-4284 MicroRNAs 476 2010-04-30 2016-11-16 100422948 ENSG00000265724 uc022afw.1 NR_036247 MI0015893 HGNC:38322 +HGNC:38337 MIR4285 microRNA 4285 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-4285 MicroRNAs 476 2010-04-30 2016-11-16 100422858 ENSG00000264675 uc033abb.1 NR_036245 MI0015891 HGNC:38337 +HGNC:38186 MIR4286 microRNA 4286 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-4286 MicroRNAs 476 2010-04-30 2016-11-16 100422982 ENSG00000263762 uc033bbz.1 NR_036248 MI0015894 HGNC:38186 +HGNC:38208 MIR4287 microRNA 4287 non-coding RNA RNA, micro Approved 8p21.1 08p21.1 hsa-mir-4287 MicroRNAs 476 2010-04-30 2016-11-16 100422828 ENSG00000265847 uc022ath.1 NR_036249 MI0015895 HGNC:38208 +HGNC:38203 MIR4288 microRNA 4288 non-coding RNA RNA, micro Approved 8p21.1 08p21.1 hsa-mir-4288 MicroRNAs 476 2010-04-30 2016-11-16 100422903 ENSG00000265251 uc022ati.1 NR_036250 MI0015896 HGNC:38203 +HGNC:38278 MIR4289 microRNA 4289 non-coding RNA RNA, micro Approved 9q22.1 09q22.1 hsa-mir-4289 MicroRNAs 476 2010-04-30 2016-11-16 100423015 ENSG00000265873 uc022bjl.1 NR_036252 MI0015898 HGNC:38278 +HGNC:38360 MIR4290 microRNA 4290 non-coding RNA RNA, micro Approved 9q22.2 09q22.2 hsa-mir-4290 MicroRNAs 476 2010-04-30 2016-11-16 100422963 ENSG00000263967 uc022bjp.1 NR_036253 MI0015899 HGNC:38360 +HGNC:27861 MIR4290HG MIR4290 host gene non-coding RNA RNA, long non-coding Approved 9q22.2 09q22.2 MicroRNA non-coding host genes 1688 2015-10-14 2015-10-14 286370 ENSG00000227555 OTTHUMG00000020191 NR_038882 MIR4290HG HGNC:27861 +HGNC:38267 MIR4291 microRNA 4291 non-coding RNA RNA, micro Approved 9q22.31 09q22.31 hsa-mir-4291 MicroRNAs 476 2010-04-30 2016-11-16 100422927 ENSG00000265347 uc022bkd.1 NR_036254 MI0015900 HGNC:38267 +HGNC:38348 MIR4292 microRNA 4292 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-4292 MicroRNAs 476 2010-04-30 2016-11-16 100422860 ENSG00000265806 uc022bpu.1 NR_036251 MI0015897 HGNC:38348 +HGNC:38270 MIR4293 microRNA 4293 non-coding RNA RNA, micro Approved 10p13 10p13 hsa-mir-4293 MicroRNAs 476 2010-04-30 2016-11-16 100422843 ENSG00000266321 uc031vxu.1 NR_036181 MI0015826 HGNC:38270 +HGNC:38180 MIR4294 microRNA 4294 non-coding RNA RNA, micro Approved 10q11.23 10q11.23 hsa-mir-4294 MicroRNAs 476 2010-04-30 2016-11-16 100422895 ENSG00000264800 uc021ppz.1 NR_036182 MI0015827 HGNC:38180 +HGNC:38220 MIR4295 microRNA 4295 non-coding RNA RNA, micro Approved 10q25.2 10q25.2 hsa-mir-4295 MicroRNAs 476 2010-04-30 2016-11-16 100422909 ENSG00000264763 uc021pyf.1 NR_036177 MI0015822 HGNC:38220 +HGNC:38178 MIR4296 microRNA 4296 non-coding RNA RNA, micro Approved 10q26.13 10q26.13 hsa-mir-4296 MicroRNAs 476 2010-04-30 2016-11-16 100423041 ENSG00000264572 uc021qan.1 NR_036178 MI0015823 HGNC:38178 +HGNC:38393 MIR4297 microRNA 4297 non-coding RNA RNA, micro Approved 10q26.3 10q26.3 hsa-mir-4297 MicroRNAs 476 2010-04-30 2016-11-16 100422873 ENSG00000266676 uc021qaw.1 NR_036179 MI0015824 HGNC:38393 +HGNC:38313 MIR4298 microRNA 4298 non-coding RNA RNA, micro Approved 11p15.5 11p15.5 hsa-mir-4298 MicroRNAs 476 2010-04-30 2016-11-16 100423021 ENSG00000264493 uc021qbw.1 NR_036185 MI0015830 HGNC:38313 +HGNC:38329 MIR4299 microRNA 4299 non-coding RNA RNA, micro Approved 11p15.4 11p15.4 hsa-mir-4299 MicroRNAs 476 2010-04-30 2016-11-16 100423026 ENSG00000266645 uc021qdv.1 NR_036184 MI0015829 HGNC:38329 +HGNC:38184 MIR4300 microRNA 4300 non-coding RNA RNA, micro Approved 11q14.1 11q14.1 hsa-mir-4300 MicroRNAs 476 2010-04-30 2016-11-16 100422823 ENSG00000264110 uc021qod.1 NR_036186 MI0015831 HGNC:38184 +HGNC:52003 MIR4300HG MIR4300 host gene non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 MicroRNA non-coding host genes 1688 2015-10-14 2015-10-14 101928989 ENSG00000245832 OTTHUMG00000166867 NR_120571 MIR4300HG HGNC:52003 +HGNC:38323 MIR4301 microRNA 4301 non-coding RNA RNA, micro Approved 11q23.2 11q23.2 hsa-mir-4301 MicroRNAs 476 2010-04-30 2016-11-16 100422855 ENSG00000265140 uc021qqs.1 NR_036183 MI0015828 HGNC:38323 +HGNC:38185 MIR4302 microRNA 4302 non-coding RNA RNA, micro Approved 12p12.1 12p12.1 hsa-mir-4302 MicroRNAs 476 2010-04-30 2016-11-16 100422897 ENSG00000283603 NR_036188 MI0015833 HGNC:38185 +HGNC:38256 MIR4303 microRNA 4303 non-coding RNA RNA, micro Approved 12q23.1 12q23.1 hsa-mir-4303 MicroRNAs 476 2010-04-30 2016-11-16 100422924 ENSG00000263890 uc021rch.1 NR_036189 MI0015834 HGNC:38256 +HGNC:38276 MIR4304 microRNA 4304 non-coding RNA RNA, micro Approved 12q24.31 12q24.31 hsa-mir-4304 MicroRNAs 476 2010-04-30 2016-11-16 100422931 ENSG00000265526 uc021rfr.1 NR_036187 MI0015832 HGNC:38276 +HGNC:38301 MIR4305 microRNA 4305 non-coding RNA RNA, micro Approved 13q14.11 13q14.11 hsa-mir-4305 MicroRNAs 476 2010-04-30 2016-11-16 100422940 ENSG00000264171 uc021ril.1 NR_036190 MI0015835 HGNC:38301 +HGNC:38350 MIR4306 microRNA 4306 non-coding RNA RNA, micro Approved 13q32.3 13q32.3 hsa-mir-4306 MicroRNAs 476 2010-04-30 2016-11-16 100422861 ENSG00000263615 uc021rmc.1 NR_036191 MI0015836 HGNC:38350 +HGNC:38257 MIR4307 microRNA 4307 non-coding RNA RNA, micro Approved 14q12 14q12 hsa-mir-4307 MicroRNAs 476 2010-04-30 2016-11-16 100423019 ENSG00000265165 uc021rrs.1 NR_036193 MI0015838 HGNC:38257 +HGNC:52004 MIR4307HG MIR4307 host gene non-coding RNA RNA, long non-coding Approved 14q12 14q12 MicroRNA non-coding host genes 1688 2015-10-14 2015-10-14 101927081 ENSG00000257612 OTTHUMG00000170436 NR_110041 MIR4307HG HGNC:52004 +HGNC:38206 MIR4308 microRNA 4308 non-coding RNA RNA, micro Approved 14q22.2 14q22.2 hsa-mir-4308 MicroRNAs 476 2010-04-30 2016-11-16 100422984 ENSG00000265432 uc021rth.1 NR_036194 MI0015839 HGNC:38206 +HGNC:38336 MIR4309 microRNA 4309 non-coding RNA RNA, micro Approved 14q32.31 14q32.31 hsa-mir-4309 MicroRNAs 476 2010-04-30 2016-11-16 100422954 ENSG00000266015 uc021sed.1 NR_036192 MI0015837 HGNC:38336 +HGNC:38383 MIR4310 microRNA 4310 non-coding RNA RNA, micro Approved 15q15.1 15q15.1 hsa-mir-4310 MicroRNAs 476 2010-04-30 2016-11-16 100423013 ENSG00000264850 uc021sjo.1 NR_036195 MI0015840 HGNC:38383 +HGNC:38207 MIR4311 microRNA 4311 non-coding RNA RNA, micro Approved 15q22.31 15q22.31 hsa-mir-4311 MicroRNAs 476 2010-04-30 2016-11-16 100422905 ENSG00000263512 uc021spd.1 NR_036196 MI0015841 HGNC:38207 +HGNC:38376 MIR4312 microRNA 4312 non-coding RNA RNA, micro Approved 15q23 15q23 hsa-mir-4312 MicroRNAs 476 2010-04-30 2016-11-16 100422971 ENSG00000265195 uc021spk.1 NR_036197 MI0015842 HGNC:38376 +HGNC:38310 MIR4313 microRNA 4313 non-coding RNA RNA, micro Approved 15q24.2 15q24.2 hsa-mir-4313 MicroRNAs 476 2010-04-30 2016-11-16 100423035 ENSG00000284385 uc021sqr.1 NR_036198 MI0015843 HGNC:38310 +HGNC:38191 MIR4314 microRNA 4314 non-coding RNA RNA, micro Approved 17p13.1 17p13.1 hsa-mir-4314 MicroRNAs 476 2010-04-30 2016-11-16 100422983 ENSG00000264005 uc021tpn.1 NR_036201 MI0015846 HGNC:38191 +HGNC:38342 MIR4315-1 microRNA 4315-1 non-coding RNA RNA, micro Approved 17q21.31 17q21.31 hsa-mir-4315-1 MicroRNAs 476 2010-04-30 2016-11-16 100423004 ENSG00000284055 NR_036199 MI0015844 HGNC:38342 +HGNC:38356 MIR4315-2 microRNA 4315-2 non-coding RNA RNA, micro Approved 17q24.1 17q24.1 hsa-mir-4315-2 MicroRNAs 476 2010-04-30 2016-11-16 100422961 ENSG00000284172 NR_036271 MI0015983 HGNC:38356 +HGNC:38306 MIR4316 microRNA 4316 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-4316 MicroRNAs 476 2010-04-30 2016-11-16 100422851 ENSG00000264060 uc021udy.1 NR_036200 MI0015845 HGNC:38306 +HGNC:38260 MIR4317 microRNA 4317 non-coding RNA RNA, micro Approved 18p11.31 18p11.31 hsa-mir-4317 MicroRNAs 476 2010-04-30 2016-11-16 100422840 ENSG00000283532 NR_036205 MI0015850 HGNC:38260 +HGNC:38333 MIR4318 microRNA 4318 non-coding RNA RNA, micro Approved 18q12.2 18q12.2 hsa-mir-4318 MicroRNAs 476 2010-04-30 2016-11-16 100422857 ENSG00000266530 uc021uiz.1 NR_036202 MI0015847 HGNC:38333 +HGNC:38212 MIR4319 microRNA 4319 non-coding RNA RNA, micro Approved 18q12.3 18q12.3 hsa-mir-4319 MicroRNAs 476 2010-04-30 2016-11-16 100422829 ENSG00000265957 uc021uje.1 NR_036203 MI0015848 HGNC:38212 +HGNC:38369 MIR4320 microRNA 4320 non-coding RNA RNA, micro Approved 18q21.1 18q21.1 hsa-mir-4320 MicroRNAs 476 2010-04-30 2016-11-16 100422865 ENSG00000283343 NR_036204 MI0015849 HGNC:38369 +HGNC:38244 MIR4321 microRNA 4321 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-4321 MicroRNAs 476 2010-04-30 2016-11-16 100423031 ENSG00000284272 uc021umr.1 NR_036207 MI0015852 HGNC:38244 +HGNC:38261 MIR4322 microRNA 4322 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-4322 MicroRNAs 476 2010-04-30 2014-11-19 100422925 ENSG00000264266 uc021uot.1 NR_036206 MI0015851 HGNC:38261 +HGNC:38394 MIR4323 microRNA 4323 non-coding RNA RNA, micro Approved 19q13.2 19q13.2 hsa-mir-4323 MicroRNAs 476 2010-04-30 2016-11-16 100422980 ENSG00000266226 uc021uvb.1 NR_036208 MI0015853 HGNC:38394 +HGNC:38392 MIR4324 microRNA 4324 non-coding RNA RNA, micro Approved 19q13.33 19q13.33 hsa-mir-4324 MicroRNAs 476 2010-04-30 2016-11-16 100422979 ENSG00000265407 uc021uxj.1 NR_036209 MI0015854 HGNC:38392 +HGNC:38304 MIR4325 microRNA 4325 non-coding RNA RNA, micro Approved 20q13.31 20q13.31 hsa-mir-4325 MicroRNAs 476 2010-04-30 2016-11-16 100422883 ENSG00000266666 uc021wfb.1 NR_036219 MI0015865 HGNC:38304 +HGNC:38314 MIR4326 microRNA 4326 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-4326 MicroRNAs 476 2010-04-30 2016-11-16 100422945 ENSG00000266104 uc021wgb.1 NR_036220 MI0015866 HGNC:38314 +HGNC:38355 MIR4327 microRNA 4327 non-coding RNA RNA, micro Approved 21q22.11 21q22.11 hsa-mir-4327 MicroRNAs 476 2010-04-30 2016-11-16 100422891 ENSG00000265007 uc021wig.1 NR_036221 MI0015867 HGNC:38355 +HGNC:38280 MIR4328 microRNA 4328 non-coding RNA RNA, micro Approved Xq21.1 Xq21.1 hsa-mir-4328 MicroRNAs 476 2010-04-30 2016-11-16 100422932 ENSG00000283622 NR_036258 MI0015904 HGNC:38280 +HGNC:38290 MIR4329 microRNA 4329 non-coding RNA RNA, micro Approved Xq23 Xq23 hsa-mir-4329 MicroRNAs 476 2010-04-30 2016-11-16 100423009 ENSG00000283775 uc022ccu.1 NR_036255 MI0015901 HGNC:38290 +HGNC:38273 MIR4330 microRNA 4330 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-4330 MicroRNAs 476 2010-04-30 2016-11-16 100422930 ENSG00000265789 uc022cgs.1 NR_036256 MI0015902 HGNC:38273 +HGNC:41789 MIR4418 microRNA 4418 non-coding RNA RNA, micro Approved 1p36.12 01p36.12 hsa-mir-4418 MicroRNAs 476 2011-05-02 2016-11-16 100616433 ENSG00000266564 uc031tso.1 NR_039613 MI0016754 HGNC:41789 +HGNC:41772 MIR4420 microRNA 4420 non-coding RNA RNA, micro Approved 1p35.2 01p35.2 hsa-mir-4420 MicroRNAs 476 2011-05-02 2016-11-16 100616164 ENSG00000264773 uc021okj.1 NR_039616 MI0016757 HGNC:41772 +HGNC:41879 MIR4421 microRNA 4421 non-coding RNA RNA, micro Approved 1p32.3 01p32.3 hsa-mir-4421 MicroRNAs 476 2011-05-02 2016-11-16 100616189 ENSG00000265538 uc031uaf.1 NR_039617 MI0016758 HGNC:41879 +HGNC:41654 MIR4422 microRNA 4422 non-coding RNA RNA, micro Approved 1p32.3 01p32.3 hsa-mir-4422 MicroRNAs 476 2011-05-02 2016-11-16 100616272 ENSG00000265822 uc021ony.1 NR_039618 MI0016759 HGNC:41654 +HGNC:53113 MIR4422HG MIR4422 host gene non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 RP11-101C11.1 MicroRNA non-coding host genes 1688 2017-02-10 2017-02-10 109729135 ENSG00000231090 OTTHUMG00000008214 NR_146283 28103885 HGNC:53113 +HGNC:41784 MIR4423 microRNA 4423 non-coding RNA RNA, micro Approved 1p22.3 01p22.3 hsa-mir-4423 MicroRNAs 476 2011-05-02 2016-11-16 100616481 ENSG00000266110 uc021opc.1 NR_039619 MI0016760 HGNC:41784 +HGNC:41805 MIR4424 microRNA 4424 non-coding RNA RNA, micro Approved 1q25.2 01q25.2 hsa-mir-4424 MicroRNAs 476 2011-05-02 2016-11-16 100616328 ENSG00000266417 uc021pfg.1 NR_039622 MI0016763 HGNC:41805 +HGNC:41891 MIR4425 microRNA 4425 non-coding RNA RNA, micro Approved 1p36.11 01p36.11 hsa-mir-4425 MicroRNAs 476 2011-05-02 2016-11-16 100616365 ENSG00000264371 uc031tua.1 NR_039623 MI0016764 HGNC:41891 +HGNC:41848 MIR4426 microRNA 4426 non-coding RNA RNA, micro Approved 1q31.2 01q31.2 hsa-mir-4426 MicroRNAs 476 2011-05-02 2016-11-16 100616345 ENSG00000283795 NR_039624 MI0016765 HGNC:41848 +HGNC:41678 MIR4427 microRNA 4427 non-coding RNA RNA, micro Approved 1q42.2 01q42.2 hsa-mir-4427 MicroRNAs 476 2011-05-02 2016-11-16 100616390 ENSG00000265744 uc021pkp.1 NR_039625 MI0016766 HGNC:41678 +HGNC:41667 MIR4428 microRNA 4428 non-coding RNA RNA, micro Approved 1q43 01q43 hsa-mir-4428 MicroRNAs 476 2011-05-02 2016-11-16 100616141 ENSG00000266262 uc031vst.1 NR_039626 MI0016767 HGNC:41667 +HGNC:41579 MIR4429 microRNA 4429 non-coding RNA RNA, micro Approved 2p25.1 02p25.1 hsa-mir-4429 MicroRNAs 476 2011-05-02 2016-11-16 100616469 ENSG00000264010 uc021vdw.1 NR_039627 MI0016768 HGNC:41579 +HGNC:41646 MIR4430 microRNA 4430 non-coding RNA RNA, micro Approved 2p22.3 02p22.3 hsa-mir-4430 MicroRNAs 476 2011-05-02 2016-11-16 100616136 ENSG00000283591 NR_039628 MI0016769 HGNC:41646 +HGNC:41738 MIR4431 microRNA 4431 non-coding RNA RNA, micro Approved 2p16.2 02p16.2 hsa-mir-4431 MicroRNAs 476 2011-05-02 2016-11-16 100616431 ENSG00000264975 uc032nnd.1 NR_039630 MI0016771 HGNC:41738 +HGNC:41649 MIR4432 microRNA 4432 non-coding RNA RNA, micro Approved 2p16.1 02p16.1 hsa-mir-4432 MicroRNAs 476 2011-05-02 2016-11-16 100616473 ENSG00000266078 uc021vie.1 NR_039631 MI0016772 HGNC:41649 +HGNC:52005 MIR4432HG MIR4432 host gene non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 MicroRNA non-coding host genes 1688 2015-10-14 2015-10-14 106660609 ENSG00000223929 OTTHUMG00000152618 NR_132991 MIR4432HG HGNC:52005 +HGNC:41634 MIR4433A microRNA 4433a non-coding RNA RNA, micro Approved 2p14 02p14 hsa-mir-4433 MIR4433 microRNA 4433 MicroRNAs 476 2011-05-02 2014-06-26 2014-06-26 2016-11-16 100616265 ENSG00000283222 NR_039632 MI0016773 HGNC:41634 +HGNC:50258 MIR4433B microRNA 4433b non-coding RNA RNA, micro Approved 2p14 02p14 hsa-mir-4433b MicroRNAs 476 2014-03-24 2016-11-16 102465833 ENSG00000264297 NR_106995 MI0025511 HGNC:50258 +HGNC:41832 MIR4434 microRNA 4434 non-coding RNA RNA, micro Approved 2p14 02p14 hsa-mir-4434 MicroRNAs 476 2011-05-02 2016-11-16 100616419 ENSG00000283204 NR_039633 MI0016774 HGNC:41832 +HGNC:41713 MIR4435-1 microRNA 4435-1 non-coding RNA RNA, micro Approved 2p11.2 02p11.2 hsa-mir-4435-1 MicroRNAs 476 2011-05-02 2015-04-22 100616499 ENSG00000265507 uc021vkl.1 NR_039634 MI0016775 HGNC:41713 +HGNC:41837 MIR4435-2 microRNA 4435-2 non-coding RNA RNA, micro Approved 2q13 02q13 hsa-mir-4435-2 MicroRNAs 476 2011-05-02 2019-08-08 100616341 ENSG00000266139 uc021vmu.1 NR_039636 31387631 MI0016777 HGNC:41837 +HGNC:35163 MIR4435-2HG MIR4435-2 host gene non-coding RNA RNA, long non-coding Approved 2q13 02q13 "LINC00978|AGD2|AK001796|lncRNA-AWPPH|MORRBID" "long intergenic non-protein coding RNA 978|adipogenesis down-regulated transcript 2|lncRNA associated with poor prognosis of HCC|myeloid RNA regulator of Bim-induced death" MIR4435-1HG "MIR4435-1 host gene (non-protein coding)|MIR4435-1 host gene" MicroRNA non-coding host genes 1688 2013-07-01 2015-04-22 2015-04-22 2017-06-15 541471 ENSG00000172965 OTTHUMG00000150313 BX647931 NR_015395 "19531736|25888808|27525555" MGI:3652191 617144 MIR4435-2HG HGNC:35163 +HGNC:41762 MIR4436A microRNA 4436a non-coding RNA RNA, micro Approved 2p11.2 02p11.2 hsa-mir-4436a MicroRNAs 476 2011-05-02 2016-11-16 100616399 ENSG00000265510 uc021vks.1 NR_039635 MI0016776 HGNC:41762 +HGNC:41587 MIR4436B1 microRNA 4436b-1 non-coding RNA RNA, micro Approved 2q13 02q13 hsa-mir-4436b MIR4436B microRNA 4436b MicroRNAs 476 2011-05-02 2011-11-14 2011-11-14 2016-11-16 100616123 ENSG00000264979 uc031ror.1 NR_039941 MI0017425 HGNC:41587 +HGNC:43451 MIR4436B2 microRNA 4436b-2 non-coding RNA RNA, micro Approved 2q13 02q13 hsa-mir-4436b-2 MicroRNAs 476 2011-11-14 2020-06-03 100847033 ENSG00000263881 uc031ros.1 NR_049830 MI0019110 HGNC:43451 +HGNC:41715 MIR4437 microRNA 4437 non-coding RNA RNA, micro Approved 2q31.3 02q31.3 hsa-mir-4437 MicroRNAs 476 2011-05-02 2016-11-16 100616213 ENSG00000266705 uc021vtg.1 NR_039637 MI0016778 HGNC:41715 +HGNC:41555 MIR4438 microRNA 4438 non-coding RNA RNA, micro Approved 2q34 02q34 hsa-mir-4438 MicroRNAs 476 2011-05-02 2016-11-16 100616375 ENSG00000265734 uc032orz.1 NR_039640 MI0016781 HGNC:41555 +HGNC:41622 MIR4439 microRNA 4439 non-coding RNA RNA, micro Approved 2q36.2 02q36.2 hsa-mir-4439 MicroRNAs 476 2011-05-02 2016-11-16 100616207 ENSG00000263828 uc021vxm.1 NR_039641 MI0016782 HGNC:41622 +HGNC:41740 MIR4440 microRNA 4440 non-coding RNA RNA, micro Approved 2q37.3 02q37.3 hsa-mir-4440 MicroRNAs 476 2011-05-02 2016-11-16 100616397 ENSG00000266109 uc021vyy.1 NR_039642 MI0016783 HGNC:41740 +HGNC:41728 MIR4441 microRNA 4441 non-coding RNA RNA, micro Approved 2q37.3 02q37.3 hsa-mir-4441 MicroRNAs 476 2011-05-02 2016-11-16 100616493 ENSG00000264810 uc021vyz.1 NR_039643 MI0016784 HGNC:41728 +HGNC:41718 MIR4442 microRNA 4442 non-coding RNA RNA, micro Approved 3p24.2 03p24.2 hsa-mir-4442 MicroRNAs 476 2011-05-02 2016-11-16 100616477 ENSG00000283971 uc021wui.2 NR_039644 MI0016785 HGNC:41718 +HGNC:41830 MIR4443 microRNA 4443 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-4443 MicroRNAs 476 2011-05-02 2016-11-16 100616407 ENSG00000265483 uc021wxl.1 NR_039645 MI0016786 HGNC:41830 +HGNC:41710 MIR4444-1 microRNA 4444-1 non-coding RNA RNA, micro Approved 2q31.2 02q31.2 "hsa-mir-4444|miR-4444-1" MIR4444 microRNA 4444 MicroRNAs 476 2011-05-02 2011-11-14 2011-11-14 2018-12-11 100616394 ENSG00000284252 uc061pzv.1 NR_039646 MI0016787 HGNC:41710 +HGNC:43481 MIR4444-2 microRNA 4444-2 non-coding RNA RNA, micro Approved 3p12.3 03p12.3 hsa-mir-4444-2 MicroRNAs 476 2011-11-14 2016-11-16 100846999 ENSG00000266780 uc031sao.2 NR_049831 MI0019111 HGNC:43481 +HGNC:41614 MIR4445 microRNA 4445 non-coding RNA RNA, micro Approved 3q13.13 03q13.13 hsa-mir-4445 MicroRNAs 476 2011-05-02 2016-11-16 100616129 ENSG00000265956 uc032rxc.1 NR_039647 MI0016788 HGNC:41614 +HGNC:41700 MIR4446 microRNA 4446 non-coding RNA RNA, micro Approved 3q13.2 03q13.2 hsa-mir-4446 MicroRNAs 476 2011-05-02 2016-11-16 100616476 ENSG00000265253 uc021xcp.1 NR_039648 MI0016789 HGNC:41700 +HGNC:41850 MIR4447 microRNA 4447 non-coding RNA RNA, micro Approved 3q13.31 03q13.31 hsa-mir-4447 MicroRNAs 476 2011-05-02 2016-11-16 100616485 ENSG00000265433 uc032ryg.1 NR_039649 MI0016790 HGNC:41850 +HGNC:41604 MIR4448 microRNA 4448 non-coding RNA RNA, micro Approved 3q27.1 03q27.1 hsa-mir-4448 MicroRNAs 476 2011-05-02 2014-11-18 100616127 ENSG00000263932 uc032slz.1 NR_039650 MI0016791 HGNC:41604 +HGNC:41864 MIR4449 microRNA 4449 non-coding RNA RNA, micro Approved 4q12 04q12 hsa-mir-4449 MicroRNAs 476 2011-05-02 2016-11-16 100616436 ENSG00000264585 uc021xoi.1 NR_039651 614627 MI0016792 HGNC:41864 +HGNC:41725 MIR4450 microRNA 4450 non-coding RNA RNA, micro Approved 4q21.1 04q21.1 hsa-mir-4450 MicroRNAs 476 2011-05-02 2016-11-16 100616299 ENSG00000263445 uc021xpg.1 NR_039654 MI0016795 HGNC:41725 +HGNC:41858 MIR4451 microRNA 4451 non-coding RNA RNA, micro Approved 4q21.23 04q21.23 hsa-mir-4451 MicroRNAs 476 2011-05-02 2016-11-16 100616349 ENSG00000266421 NR_039656 MI0016797 HGNC:41858 +HGNC:41539 MIR4452 microRNA 4452 non-coding RNA RNA, micro Approved 4q21.3 04q21.3 hsa-mir-4452 MicroRNAs 476 2011-05-02 2016-11-16 100616463 ENSG00000266515 uc032toy.1 NR_039657 MI0016798 HGNC:41539 +HGNC:41892 MIR4453 microRNA 4453 non-coding RNA RNA, micro Approved 4q31.3 04q31.3 hsa-mir-4453 MicroRNAs 476 2011-05-02 2017-11-17 100616193 ENSG00000283792 uc063agw.1 NR_039658 MI0016799 HGNC:41892 +HGNC:25288 MIR4453HG MIR4453 host gene non-coding RNA RNA, long non-coding Approved 4q31.3 04q31.3 DKFZP434I0714 LINC02486 long intergenic non-protein coding RNA 2486 MicroRNA non-coding host genes 1688 2017-04-25 2017-11-17 2017-11-17 2017-11-17 54553 ENSG00000268471 OTTHUMG00000161466 NR_033797 HGNC:25288 +HGNC:41553 MIR4454 microRNA 4454 non-coding RNA RNA, micro Approved 4q32.2 04q32.2 hsa-mir-4454 MicroRNAs 476 2011-05-02 2014-11-19 100616234 ENSG00000283468 NR_039659 MI0016800 HGNC:41553 +HGNC:41536 MIR4455 microRNA 4455 non-coding RNA RNA, micro Approved 4q35.1 04q35.1 hsa-mir-4455 MicroRNAs 476 2011-05-02 2016-11-16 100616111 ENSG00000263458 uc032ugp.1 NR_039660 MI0016801 HGNC:41536 +HGNC:41606 MIR4456 microRNA 4456 non-coding RNA RNA, micro Approved 5p15.33 05p15.33 hsa-mir-4456 MicroRNAs 476 2011-05-02 2021-06-30 100616381 ENSG00000264233 uc021xvw.1 NR_039661 MI0016802 HGNC:41606 +HGNC:41554 MIR4457 microRNA 4457 non-coding RNA RNA, micro Approved 5p15.33 05p15.33 hsa-mir-4457 MicroRNAs 476 2011-05-02 2016-11-16 100616235 ENSG00000263670 uc021xwd.1 NR_039662 MI0016803 HGNC:41554 +HGNC:41674 MIR4458 microRNA 4458 non-coding RNA RNA, micro Approved 5p15.31 05p15.31 hsa-mir-4458 MicroRNAs 476 2011-05-02 2018-08-17 100616142 ENSG00000284000 uc021xwk.1 NR_039663 MI0016804 HGNC:41674 +HGNC:49008 MIR4458HG MIR4458 host gene non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 MIR4458 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2013-07-30 2015-02-20 2015-02-20 100505738 ENSG00000247516 OTTHUMG00000161710 NR_039989 MIR4458HG HGNC:49008 +HGNC:41795 MIR4460 microRNA 4460 non-coding RNA RNA, micro Approved 5q23.3 05q23.3 hsa-mir-4460 MicroRNAs 476 2011-05-02 2016-11-16 100616325 ENSG00000265691 uc021ydg.1 NR_039665 MI0016806 HGNC:41795 +HGNC:41549 MIR4462 microRNA 4462 non-coding RNA RNA, micro Approved 6p21.2 06p21.2 hsa-mir-4462 MicroRNAs 476 2011-05-02 2016-11-16 100616413 ENSG00000263926 uc021yzf.3 NR_039669 MI0016810 HGNC:41549 +HGNC:41665 MIR4463 microRNA 4463 non-coding RNA RNA, micro Approved 6q14.1 06q14.1 hsa-mir-4463 MicroRNAs 476 2011-05-02 2017-06-06 100616389 ENSG00000263533 uc032xbe.1 NR_039670 MI0016811 HGNC:41665 +HGNC:41528 MIR4464 microRNA 4464 non-coding RNA RNA, micro Approved 6q15 06q15 hsa-mir-4464 MicroRNAs 476 2011-05-02 2016-11-16 100616109 ENSG00000266760 uc021zct.1 NR_039671 MI0016812 HGNC:41528 +HGNC:41842 MIR4465 microRNA 4465 non-coding RNA RNA, micro Approved 6q24.1 06q24.1 hsa-mir-4465 MicroRNAs 476 2011-05-02 2016-11-16 100616180 ENSG00000264390 uc021zge.1 NR_039675 MI0016816 HGNC:41842 +HGNC:41726 MIR4466 microRNA 4466 non-coding RNA RNA, micro Approved 6q25.3 06q25.3 hsa-mir-4466 MicroRNAs 476 2011-05-02 2016-11-16 100616154 ENSG00000271899 uc021zhj.1 NR_039676 MI0016817 HGNC:41726 +HGNC:41896 MIR4467 microRNA 4467 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-4467 MicroRNAs 476 2011-05-02 2016-11-16 100616367 ENSG00000284596 uc022ajg.1 NR_039677 MI0016818 HGNC:41896 +HGNC:41533 MIR4468 microRNA 4468 non-coding RNA RNA, micro Approved 7q33 07q33 hsa-mir-4468 MicroRNAs 476 2011-05-02 2016-11-16 100616226 ENSG00000284028 uc022amk.1 NR_039678 MI0016819 HGNC:41533 +HGNC:41556 MIR4469 microRNA 4469 non-coding RNA RNA, micro Approved 8p11.21 08p11.21 hsa-mir-4469 MicroRNAs 476 2011-05-02 2016-11-16 100616115 ENSG00000284062 uc022aum.1 NR_039679 MI0016820 HGNC:41556 +HGNC:41833 MIR4470 microRNA 4470 non-coding RNA RNA, micro Approved 8q12.3 08q12.3 hsa-mir-4470 MicroRNAs 476 2011-05-02 2016-11-16 100616484 ENSG00000264408 uc022ava.1 NR_039680 MI0016821 HGNC:41833 +HGNC:41657 MIR4471 microRNA 4471 non-coding RNA RNA, micro Approved 8q22.2 08q22.2 hsa-mir-4471 MicroRNAs 476 2011-05-02 2016-11-16 100616451 ENSG00000265599 uc022azi.1 NR_039681 MI0016822 HGNC:41657 +HGNC:41644 MIR4472-1 microRNA 4472-1 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-4472-1 MicroRNAs 476 2011-05-02 2016-11-16 100616268 ENSG00000265247 uc022bbz.1 NR_039682 MI0016823 HGNC:41644 +HGNC:41752 MIR4472-2 microRNA 4472-2 non-coding RNA RNA, micro Approved 12q24.22 12q24.22 hsa-mir-4472-2 MicroRNAs 476 2011-05-02 2016-11-16 100616309 ENSG00000264037 uc021rei.1 NR_039683 MI0016824 HGNC:41752 +HGNC:41540 MIR4473 microRNA 4473 non-coding RNA RNA, micro Approved 9p21.3 09p21.3 hsa-mir-4473 MicroRNAs 476 2011-05-02 2016-11-16 100616229 ENSG00000263790 uc022bdy.1 NR_039684 MI0016825 HGNC:41540 +HGNC:41821 MIR4474 microRNA 4474 non-coding RNA RNA, micro Approved 9p21.3 09p21.3 hsa-mir-4474 MicroRNAs 476 2011-05-02 2016-11-16 100616441 ENSG00000264941 uc022bea.1 NR_039685 MI0016826 HGNC:41821 +HGNC:41697 MIR4475 microRNA 4475 non-coding RNA RNA, micro Approved 9p13.2 09p13.2 hsa-mir-4475 MicroRNAs 476 2011-05-02 2016-11-16 100616289 ENSG00000266255 uc022bgr.1 NR_039686 MI0016827 HGNC:41697 +HGNC:41793 MIR4476 microRNA 4476 non-coding RNA RNA, micro Approved 9p13.2 09p13.2 hsa-mir-4476 MicroRNAs 476 2011-05-02 2016-11-16 100616456 ENSG00000265368 uc022bgt.1 NR_039687 MI0016828 HGNC:41793 +HGNC:41859 MIR4477A microRNA 4477a non-coding RNA RNA, micro Approved 9p11.2 09p11.2 hsa-mir-4477a MicroRNAs 476 2011-05-02 2016-11-16 100616184 ENSG00000276029 uc033csg.1 NR_039688 MI0016829 HGNC:41859 +HGNC:41898 MIR4477B microRNA 4477b non-coding RNA RNA, micro Approved 9q13 09q13 hsa-mir-4477b MicroRNAs 476 2011-05-02 2016-11-16 100616194 ENSG00000266017 uc033ctu.1 NR_039689 MI0016830 HGNC:41898 +HGNC:41759 MIR4478 microRNA 4478 non-coding RNA RNA, micro Approved 9q33.2 09q33.2 hsa-mir-4478 MicroRNAs 476 2011-05-02 2016-11-16 100616312 ENSG00000266583 uc022bmv.1 NR_039690 MI0016831 HGNC:41759 +HGNC:41767 MIR4479 microRNA 4479 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-4479 MicroRNAs 476 2011-05-02 2016-11-16 100616480 ENSG00000266507 uc022bpw.1 NR_039697 MI0016838 HGNC:41767 +HGNC:41716 MIR4480 microRNA 4480 non-coding RNA RNA, micro Approved 10p13 10p13 hsa-mir-4480 MicroRNAs 476 2011-05-02 2016-11-16 100616151 ENSG00000263584 uc021pmz.1 NR_039700 MI0016841 HGNC:41716 +HGNC:41781 MIR4481 microRNA 4481 non-coding RNA RNA, micro Approved 10p13 10p13 hsa-mir-4481 MicroRNAs 476 2011-05-02 2016-11-16 100616320 ENSG00000283699 NR_039701 MI0016842 HGNC:41781 +HGNC:41792 MIR4482 microRNA 4482 non-coding RNA RNA, micro Approved 10q25.1 10q25.1 hsa-mir-4482 MIR4482-1 microRNA 4482-1 MicroRNAs 476 2011-05-02 2014-03-17 2014-03-17 2016-11-16 100616323 ENSG00000266852 NR_039702 MI0016843 HGNC:41792 +HGNC:41761 MIR4483 microRNA 4483 non-coding RNA RNA, micro Approved 10q25.3 10q25.3 hsa-mir-4483 MicroRNAs 476 2011-05-02 2016-11-16 100616162 ENSG00000283656 NR_039703 MI0016844 HGNC:41761 +HGNC:41799 MIR4484 microRNA 4484 non-coding RNA RNA, micro Approved 10q26.2 10q26.2 hsa-mir-4484 MicroRNAs 476 2011-05-02 2016-11-16 100616327 ENSG00000265092 uc021qaq.1 NR_039704 MI0016845 HGNC:41799 +HGNC:41628 MIR4485 microRNA 4485 non-coding RNA RNA, micro Approved 11p15.4 11p15.4 hsa-mir-4485 MicroRNAs 476 2011-05-02 2016-11-16 100616263 ENSG00000283813 NR_039705 MI0016846 HGNC:41628 +HGNC:41566 MIR4486 microRNA 4486 non-coding RNA RNA, micro Approved 11p15.1 11p15.1 hsa-mir-4486 MicroRNAs 476 2011-05-02 2016-11-16 100616118 ENSG00000265210 uc021qeu.1 NR_039706 MI0016847 HGNC:41566 +HGNC:41851 MIR4487 microRNA 4487 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-4487 MicroRNAs 476 2011-05-02 2016-11-16 100616222 ENSG00000264583 uc031xoj.1 NR_039707 MI0016848 HGNC:41851 +HGNC:41599 MIR4488 microRNA 4488 non-coding RNA RNA, micro Approved 11q12.2 11q12.2 hsa-mir-4488 MicroRNAs 476 2011-05-02 2016-11-16 100616470 ENSG00000266006 uc021qkg.1 NR_039708 MI0016849 HGNC:41599 +HGNC:41685 MIR4489 microRNA 4489 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-4489 MicroRNAs 476 2011-05-02 2016-11-16 100616284 ENSG00000265874 uc021qlo.1 NR_039709 MI0016850 HGNC:41685 +HGNC:41871 MIR4490 microRNA 4490 non-coding RNA RNA, micro Approved 11q14.3 11q14.3 hsa-mir-4490 MicroRNAs 476 2011-05-02 2016-11-16 100616186 ENSG00000266703 uc021qor.1 NR_039711 MI0016852 HGNC:41871 +HGNC:41808 MIR4491 microRNA 4491 non-coding RNA RNA, micro Approved 11q23.1 11q23.1 hsa-mir-4491 MicroRNAs 476 2011-05-02 2016-11-16 100616330 ENSG00000264032 uc021qqi.2 NR_039712 MI0016853 HGNC:41808 +HGNC:41563 MIR4492 microRNA 4492 non-coding RNA RNA, micro Approved 11q23.3 11q23.3 hsa-mir-4492 MicroRNAs 476 2011-05-02 2016-11-16 100616376 ENSG00000264211 uc021qrh.1 NR_039713 MI0016854 HGNC:41563 +HGNC:41778 MIR4493 microRNA 4493 non-coding RNA RNA, micro Approved 11q24.1 11q24.1 hsa-mir-4493 MicroRNAs 476 2011-05-02 2016-11-16 100616319 ENSG00000265357 uc021qrs.1 NR_039714 MI0016855 HGNC:41778 +HGNC:41731 MIR4494 microRNA 4494 non-coding RNA RNA, micro Approved 12q13.11 12q13.11 hsa-mir-4494 MicroRNAs 476 2011-05-02 2017-03-23 100616478 ENSG00000264906 uc031zar.1 NR_039715 MI0016856 HGNC:41731 +HGNC:41693 MIR4495 microRNA 4495 non-coding RNA RNA, micro Approved 12q23.1 12q23.1 hsa-mir-4495 MicroRNAs 476 2011-05-02 2016-11-16 100616287 ENSG00000265861 uc031zkg.1 NR_039716 MI0016857 HGNC:41693 +HGNC:41569 MIR4496 microRNA 4496 non-coding RNA RNA, micro Approved 12q24.11 12q24.11 hsa-mir-4496 MicroRNAs 476 2011-05-02 2016-11-16 100616240 ENSG00000284388 NR_039717 MI0016858 HGNC:41569 +HGNC:41737 MIR4497 microRNA 4497 non-coding RNA RNA, micro Approved 12q24.11 12q24.11 hsa-mir-4497 MicroRNAs 476 2011-05-02 2015-07-22 100616454 ENSG00000263510 uc021rdr.1 NR_039718 MI0016859 HGNC:41737 +HGNC:41838 MIR4498 microRNA 4498 non-coding RNA RNA, micro Approved 12q24.23 12q24.23 hsa-mir-4498 MicroRNAs 476 2011-05-02 2016-11-16 100616179 ENSG00000266704 uc021res.1 NR_039719 MI0016860 HGNC:41838 +HGNC:41739 MIR4499 microRNA 4499 non-coding RNA RNA, micro Approved 13q12.11 13q12.11 hsa-mir-4499 MicroRNAs 476 2011-05-02 2016-11-16 100616304 ENSG00000263978 uc021rhc.1 NR_039721 MI0016862 HGNC:41739 +HGNC:41853 MIR4500 microRNA 4500 non-coding RNA RNA, micro Approved 13q31.2 13q31.2 hsa-mir-4500 MicroRNAs 476 2011-05-02 2014-11-18 100616182 ENSG00000266052 uc021rlb.1 NR_039722 MI0016863 HGNC:41853 +HGNC:42773 MIR4500HG MIR4500 host gene non-coding RNA RNA, long non-coding Approved 13q31.2 13q31.2 MIR4500 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2011-08-18 2015-02-20 2015-02-20 642345 ENSG00000228824 OTTHUMG00000017166 uc001vlm.2 NR_033829 MIR4500HG HGNC:42773 +HGNC:41650 MIR4501 microRNA 4501 non-coding RNA RNA, micro Approved 13q32.1 13q32.1 hsa-mir-4501 MicroRNAs 476 2011-05-02 2016-11-16 100616137 ENSG00000283487 NR_039723 MI0016864 HGNC:41650 +HGNC:41534 MIR4502 microRNA 4502 non-coding RNA RNA, micro Approved 13q34 13q34 hsa-mir-4502 MicroRNAs 476 2011-05-02 2016-11-16 100616227 ENSG00000265450 uc032aqa.1 NR_039724 MI0016865 HGNC:41534 +HGNC:41675 MIR4503 microRNA 4503 non-coding RNA RNA, micro Approved 14q13.3 14q13.3 hsa-mir-4503 MicroRNAs 476 2011-05-02 2016-11-16 100616280 ENSG00000266327 uc021rsg.1 NR_039725 MI0016866 HGNC:41675 +HGNC:41624 MIR4504 microRNA 4504 non-coding RNA RNA, micro Approved 14q21.3 14q21.3 hsa-mir-4504 MicroRNAs 476 2011-05-02 2016-11-16 100616261 ENSG00000264712 uc032bbn.2 NR_039726 MI0016867 HGNC:41624 +HGNC:41743 MIR4505 microRNA 4505 non-coding RNA RNA, micro Approved 14q24.3 14q24.3 hsa-mir-4505 MicroRNAs 476 2011-05-02 2016-11-16 100616158 ENSG00000264741 uc021rwi.1 NR_039727 MI0016868 HGNC:41743 +HGNC:41663 MIR4506 microRNA 4506 non-coding RNA RNA, micro Approved 14q32.12 14q32.12 hsa-mir-4506 MicroRNAs 476 2011-05-02 2016-11-16 100616140 ENSG00000265768 uc032bkf.1 NR_039728 MI0016869 HGNC:41663 +HGNC:41642 MIR4507 microRNA 4507 non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-4507 MicroRNAs 476 2011-05-02 2016-11-16 100616135 ENSG00000264024 NR_039730 MI0016871 HGNC:41642 +HGNC:41659 MIR4508 microRNA 4508 non-coding RNA RNA, micro Approved 15q11.2 15q11.2 hsa-mir-4508 MicroRNAs 476 2011-05-02 2016-11-16 100616275 ENSG00000265673 uc021sfz.1 NR_039731 MI0016872 HGNC:41659 +HGNC:41860 MIR4509-1 microRNA 4509-1 non-coding RNA RNA, micro Approved 15q11.2 15q11.2 hsa-mir-4509-1 MicroRNAs 476 2011-05-02 2016-11-16 100616223 ENSG00000276941 uc032dml.1 NR_039732 MI0016873 HGNC:41860 +HGNC:41537 MIR4509-2 microRNA 4509-2 non-coding RNA RNA, micro Approved 15q13.1 15q13.1 hsa-mir-4509-2 MicroRNAs 476 2011-05-02 2016-11-16 100616228 ENSG00000266039 uc021sgm.1 NR_039733 MI0016874 HGNC:41537 +HGNC:41610 MIR4509-3 microRNA 4509-3 non-coding RNA RNA, micro Approved 15q13.1 15q13.1 hsa-mir-4509-3 MicroRNAs 476 2011-05-02 2016-11-16 100616382 ENSG00000263964 uc021sgn.1 NR_039734 MI0016875 HGNC:41610 +HGNC:41708 MIR4510 microRNA 4510 non-coding RNA RNA, micro Approved 15q14 15q14 hsa-mir-4510 MicroRNAs 476 2011-05-02 2016-11-16 100616293 ENSG00000265098 NR_039735 MI0016876 HGNC:41708 +HGNC:41589 MIR4511 microRNA 4511 non-coding RNA RNA, micro Approved 15q22.31 15q22.31 hsa-mir-4511 MicroRNAs 476 2011-05-02 2016-11-16 100616379 ENSG00000264737 uc021spb.1 NR_039736 MI0016877 HGNC:41589 +HGNC:41701 MIR4512 microRNA 4512 non-coding RNA RNA, micro Approved 15q22.31 15q22.31 hsa-mir-4512 MicroRNAs 476 2011-05-02 2016-11-16 100616149 ENSG00000266589 uc032chp.1 NR_039737 MI0016878 HGNC:41701 +HGNC:41855 MIR4513 microRNA 4513 non-coding RNA RNA, micro Approved 15q24.1 15q24.1 hsa-mir-4513 MicroRNAs 476 2011-05-02 2016-11-16 100616183 ENSG00000264386 uc021sql.1 NR_039738 MI0016879 HGNC:41855 +HGNC:41845 MIR4514 microRNA 4514 non-coding RNA RNA, micro Approved 15q25.1 15q25.1 hsa-mir-4514 MicroRNAs 476 2011-05-02 2016-11-16 100616181 ENSG00000265855 uc021ssf.1 NR_039739 MI0016880 HGNC:41845 +HGNC:41800 MIR4515 microRNA 4515 non-coding RNA RNA, micro Approved 15q25.2 15q25.2 hsa-mir-4515 MicroRNAs 476 2011-05-02 2016-11-16 100616404 ENSG00000263643 uc021ste.1 NR_039740 MI0016881 HGNC:41800 +HGNC:41617 MIR4516 microRNA 4516 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-4516 MicroRNAs 476 2011-05-02 2016-11-16 100616258 ENSG00000265867 uc021taq.1 NR_039741 MI0016882 HGNC:41617 +HGNC:41878 MIR4517 microRNA 4517 non-coding RNA RNA, micro Approved 16p11.2 16p11.2 hsa-mir-4517 MicroRNAs 476 2011-05-02 2016-11-16 100616487 ENSG00000284541 uc021tfu.1 NR_039742 MI0016883 HGNC:41878 +HGNC:41809 MIR4518 microRNA 4518 non-coding RNA RNA, micro Approved 16p11.2 16p11.2 hsa-mir-4518 MicroRNAs 476 2011-05-02 2016-11-16 100616405 ENSG00000266305 uc021tgm.1 NR_039743 MI0016884 HGNC:41809 +HGNC:41544 MIR4519 microRNA 4519 non-coding RNA RNA, micro Approved 16p11.2 16p11.2 hsa-mir-4519 MicroRNAs 476 2011-05-02 2016-11-16 100616231 ENSG00000265991 uc021tgr.1 NR_039744 MI0016885 HGNC:41544 +HGNC:41775 MIR4520-1 microRNA 4520-1 non-coding RNA RNA, micro Approved 17p13.1 17p13.1 hsa-mir-4520a MIR4520A microRNA 4520a MicroRNAs 476 2011-05-02 2014-06-26 2014-06-26 2016-11-16 100616401 ENSG00000264468 NR_039745 MI0016886 HGNC:41775 +HGNC:41839 MIR4520-2 microRNA 4520-2 non-coding RNA RNA, micro Approved 17p13.1 17p13.1 hsa-mir-4520b MIR4520B microRNA 4520b MicroRNAs 476 2011-05-02 2014-06-26 2014-06-26 2016-11-16 100616466 ENSG00000283301 NR_039874 MI0017358 HGNC:41839 +HGNC:41813 MIR4521 microRNA 4521 non-coding RNA RNA, micro Approved 17p13.1 17p13.1 hsa-mir-4521 MicroRNAs 476 2011-05-02 2016-11-16 100616406 ENSG00000283160 NR_039746 MI0016887 HGNC:41813 +HGNC:41668 MIR4522 microRNA 4522 non-coding RNA RNA, micro Approved 17q11.1 17q11.1 hsa-mir-4522 MicroRNAs 476 2011-05-02 2016-11-16 100616277 ENSG00000263583 uc021ttf.1 NR_039748 MI0016889 HGNC:41668 +HGNC:41583 MIR4523 microRNA 4523 non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-4523 MicroRNAs 476 2011-05-02 2016-11-16 100616122 ENSG00000284162 uc021tty.1 NR_039749 MI0016890 HGNC:41583 +HGNC:41771 MIR4524A microRNA 4524a non-coding RNA RNA, micro Approved 17q24.2 17q24.2 hsa-mir-4524 MIR4524 microRNA 4524 MicroRNAs 476 2011-05-02 2011-11-14 2011-11-14 2016-11-16 100616316 ENSG00000283385 NR_039750 MI0016891 HGNC:41771 +HGNC:43520 MIR4524B microRNA 4524b non-coding RNA RNA, micro Approved 17q24.2 17q24.2 hsa-mir-4524b MicroRNAs 476 2011-11-14 2016-11-16 100847008 ENSG00000265331 uc031reg.1 NR_049834 MI0019114 HGNC:43520 +HGNC:41903 MIR4525 microRNA 4525 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-4525 MicroRNAs 476 2011-05-02 2016-11-16 100616196 ENSG00000266107 uc032ftn.1 NR_039751 MI0016892 HGNC:41903 +HGNC:41618 MIR4526 microRNA 4526 non-coding RNA RNA, micro Approved 18p11.21 18p11.21 hsa-mir-4526 MicroRNAs 476 2011-05-02 2016-11-16 100616130 ENSG00000263527 uc021uhr.1 NR_039752 MI0016893 HGNC:41618 +HGNC:41633 MIR4527 microRNA 4527 non-coding RNA RNA, micro Approved 18q21.1 18q21.1 hsa-mir-4527 MicroRNAs 476 2011-05-02 2017-04-27 100616264 ENSG00000266582 uc032hde.1 NR_039753 MI0016894 HGNC:41633 +HGNC:31724 MIR4527HG MIR4527 host gene non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 MicroRNA non-coding host genes 1688 2017-04-28 2020-04-20 110175910 ENSG00000267761 OTTHUMG00000180284 BC040860 NR_147192 HGNC:31724 +HGNC:41547 MIR4528 microRNA 4528 non-coding RNA RNA, micro Approved 18q21.2 18q21.2 hsa-mir-4528 MicroRNAs 476 2011-05-02 2016-11-16 100616232 ENSG00000263872 uc060pgn.1 NR_130465 MI0016895 HGNC:41547 +HGNC:41703 MIR4529 microRNA 4529 non-coding RNA RNA, micro Approved 18q21.2 18q21.2 hsa-mir-4529 MicroRNAs 476 2011-05-02 2016-11-16 100616290 ENSG00000264571 uc021ukn.1 NR_039754 MI0016896 HGNC:41703 +HGNC:41764 MIR4530 microRNA 4530 non-coding RNA RNA, micro Approved 19q13.2 19q13.2 hsa-mir-4530 MicroRNAs 476 2011-05-02 2016-11-16 100616163 ENSG00000266559 uc021uuk.1 NR_039755 MI0016897 HGNC:41764 +HGNC:41872 MIR4531 microRNA 4531 non-coding RNA RNA, micro Approved 19q13.31 19q13.31 hsa-mir-4531 MicroRNAs 476 2011-05-02 2016-11-16 100616355 ENSG00000283673 NR_039756 MI0016898 HGNC:41872 +HGNC:41886 MIR4533 microRNA 4533 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-4533 MicroRNAs 476 2011-05-02 2016-11-16 100616362 ENSG00000266140 uc021wfu.1 NR_039758 MI0016900 HGNC:41886 +HGNC:41692 MIR4534 microRNA 4534 non-coding RNA RNA, micro Approved 22q13.1 22q13.1 hsa-mir-4534 MicroRNAs 476 2011-05-02 2017-11-17 100616146 ENSG00000284266 uc021wpm.1 NR_039759 MI0016901 HGNC:41692 +HGNC:41629 MIR4535 microRNA 4535 non-coding RNA RNA, micro Approved 22q13.32 22q13.32 hsa-mir-4535 MicroRNAs 476 2011-05-02 2016-11-16 100616415 ENSG00000266887 uc021wru.1 NR_039761 MI0016903 HGNC:41629 +HGNC:41730 MIR4536-1 microRNA 4536-1 non-coding RNA RNA, micro Approved Xp11.21 Xp11.21 hsa-mir-4536 MIR4536 microRNA 4536 MicroRNAs 476 2011-05-02 2011-11-14 2011-11-14 2017-11-17 100616155 ENSG00000283334 NR_039764 MI0016906 HGNC:41730 +HGNC:43525 MIR4536-2 microRNA 4536-2 non-coding RNA RNA, micro Approved Xp11.21 Xp11.21 hsa-mir-4536-2 MicroRNAs 476 2011-11-14 2017-11-17 100847061 ENSG00000266328 NR_130469 MI0019149 HGNC:43525 +HGNC:41682 MIR4537 microRNA 4537 non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-4537 MicroRNAs 476 2011-05-02 2016-11-16 100616422 ENSG00000264781 uc059gdw.1 NR_130466 MI0016908 HGNC:41682 +HGNC:41664 MIR4538 microRNA 4538 non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-4538 MicroRNAs 476 2011-05-02 2016-11-16 100616276 ENSG00000263413 uc032bnc.2 NR_130467 MI0016909 HGNC:41664 +HGNC:41546 MIR4539 microRNA 4539 non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-4539 MicroRNAs 476 2011-05-02 2016-11-16 100616374 ENSG00000265612 uc059gds.1 NR_130468 MI0016910 HGNC:41546 +HGNC:41670 MIR4540 microRNA 4540 non-coding RNA RNA, micro Approved 9p13.2 09p13.2 hsa-mir-4540 MicroRNAs 476 2011-05-02 2014-11-18 100616278 ENSG00000264922 uc022bgs.1 NR_039766 MI0016911 HGNC:41670 +HGNC:41593 MIR4632 microRNA 4632 non-coding RNA RNA, micro Approved 1p36.22 01p36.22 hsa-mir-4632 MicroRNAs 476 2011-05-02 2016-11-16 100616438 ENSG00000263676 uc021ogi.2 NR_039775 MI0017259 HGNC:41593 +HGNC:41822 MIR4633 microRNA 4633 non-coding RNA RNA, micro Approved 5q23.3 05q23.3 hsa-mir-4633 MicroRNAs 476 2011-05-02 2016-11-16 100616175 ENSG00000264563 uc021ydf.1 NR_039776 MI0017260 HGNC:41822 +HGNC:41559 MIR4634 microRNA 4634 non-coding RNA RNA, micro Approved 5q35.2 05q35.2 hsa-mir-4634 MicroRNAs 476 2011-05-02 2016-11-16 100616202 ENSG00000266890 uc021yhz.1 NR_039777 MI0017261 HGNC:41559 +HGNC:41748 MIR4635 microRNA 4635 non-coding RNA RNA, micro Approved 5p15.33 05p15.33 hsa-mir-4635 MicroRNAs 476 2011-05-02 2016-11-16 100616479 ENSG00000263834 uc021xvy.1 NR_039778 MI0017262 HGNC:41748 +HGNC:41798 MIR4636 microRNA 4636 non-coding RNA RNA, micro Approved 5p15.31 05p15.31 hsa-mir-4636 MicroRNAs 476 2011-05-02 2016-11-16 100616326 ENSG00000266415 uc021xwl.1 NR_039779 MI0017263 HGNC:41798 +HGNC:41651 MIR4637 microRNA 4637 non-coding RNA RNA, micro Approved 5p15.2 05p15.2 hsa-mir-4637 MicroRNAs 476 2011-05-02 2016-11-16 100616271 ENSG00000264792 uc021xwq.1 NR_039780 MI0017264 HGNC:41651 +HGNC:41841 MIR4638 microRNA 4638 non-coding RNA RNA, micro Approved 5q35.3 05q35.3 hsa-mir-4638 MicroRNAs 476 2011-05-02 2016-11-16 100616342 ENSG00000264732 uc021ykh.1 NR_039781 MI0017265 HGNC:41841 +HGNC:41645 MIR4639 microRNA 4639 non-coding RNA RNA, micro Approved 6p22.3 06p22.3 hsa-mir-4639 MicroRNAs 476 2011-05-02 2016-11-16 100616269 ENSG00000263712 uc021ymb.2 NR_039782 MI0017266 HGNC:41645 +HGNC:41561 MIR4640 microRNA 4640 non-coding RNA RNA, micro Approved 6p21.33 06p21.33 hsa-mir-4640 MicroRNAs 476 2011-05-02 2016-11-16 100616237 ENSG00000284370 uc021zrf.1 NR_039783 MI0017267 HGNC:41561 +HGNC:41835 MIR4641 microRNA 4641 non-coding RNA RNA, micro Approved 6p21.1 06p21.1 hsa-mir-4641 MicroRNAs 476 2011-05-02 2014-11-18 100616178 ENSG00000266494 uc021yzk.2 NR_039784 MI0017268 HGNC:41835 +HGNC:41865 MIR4642 microRNA 4642 non-coding RNA RNA, micro Approved 6p21.1 06p21.1 hsa-mir-4642 MicroRNAs 476 2011-05-02 2016-11-16 100616352 ENSG00000266619 uc021zaa.1 NR_039785 MI0017269 HGNC:41865 +HGNC:41814 MIR4643 microRNA 4643 non-coding RNA RNA, micro Approved 6q15 06q15 hsa-mir-4643 MicroRNAs 476 2011-05-02 2016-11-16 100616174 ENSG00000263734 uc021zcv.1 NR_039786 MI0017270 HGNC:41814 +HGNC:41687 MIR4644 microRNA 4644 non-coding RNA RNA, micro Approved 6q27 06q27 hsa-mir-4644 MicroRNAs 476 2011-05-02 2016-11-16 100616430 ENSG00000266245 uc021zip.1 NR_039787 MI0017271 HGNC:41687 +HGNC:41689 MIR4645 microRNA 4645 non-coding RNA RNA, micro Approved 6p25.2 06p25.2 hsa-mir-4645 MicroRNAs 476 2011-05-02 2016-11-16 100616285 ENSG00000266750 uc021ykr.1 NR_039788 MI0017272 HGNC:41689 +HGNC:41543 MIR4646 microRNA 4646 non-coding RNA RNA, micro Approved 6p21.33 06p21.33 hsa-mir-4646 MicroRNAs 476 2011-05-02 2016-11-16 100616230 ENSG00000266776 uc021zrw.1 NR_039789 MI0017273 HGNC:41543 +HGNC:41594 MIR4647 microRNA 4647 non-coding RNA RNA, micro Approved 6p21.1 06p21.1 hsa-mir-4647 MicroRNAs 476 2011-05-02 2016-11-16 100616124 ENSG00000284427 uc021yzy.1 NR_039790 MI0017274 HGNC:41594 +HGNC:41560 MIR4648 microRNA 4648 non-coding RNA RNA, micro Approved 7p22.3 07p22.3 hsa-mir-4648 MicroRNAs 476 2011-05-02 2016-11-16 100616116 ENSG00000264357 uc021zyy.2 NR_039791 MI0017275 HGNC:41560 +HGNC:41852 MIR4649 microRNA 4649 non-coding RNA RNA, micro Approved 7p13 07p13 hsa-mir-4649 MicroRNAs 476 2011-05-02 2016-11-16 100616346 ENSG00000284412 uc022aci.2 NR_039792 MI0017276 HGNC:41852 +HGNC:41755 MIR4650-1 microRNA 4650-1 non-coding RNA RNA, micro Approved 7q11.21 07q11.21 hsa-mir-4650-1 MicroRNAs 476 2011-05-02 2014-11-18 100616310 ENSG00000266525 uc022aff.1 NR_039793 MI0017277 HGNC:41755 +HGNC:41810 MIR4650-2 microRNA 4650-2 non-coding RNA RNA, micro Approved 7q11.22 07q11.22 hsa-mir-4650-2 MicroRNAs 476 2011-05-02 2014-11-19 100616331 ENSG00000264494 uc022afk.1 NR_039794 MI0017278 HGNC:41810 +HGNC:41647 MIR4651 microRNA 4651 non-coding RNA RNA, micro Approved 7q11.23 07q11.23 hsa-mir-4651 MicroRNAs 476 2011-05-02 2016-11-16 100616270 ENSG00000284334 uc022agk.1 NR_039795 MI0017279 HGNC:41647 +HGNC:41615 MIR4652 microRNA 4652 non-coding RNA RNA, micro Approved 7q21.3 07q21.3 hsa-mir-4652 MicroRNAs 476 2011-05-02 2016-11-16 100616206 ENSG00000265423 uc022ahl.1 NR_039796 MI0017280 HGNC:41615 +HGNC:41562 MIR4653 microRNA 4653 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-4653 MicroRNAs 476 2011-05-02 2016-11-16 100616117 ENSG00000264425 uc022aiy.1 NR_039797 MI0017281 HGNC:41562 +HGNC:41643 MIR4654 microRNA 4654 non-coding RNA RNA, micro Approved 1q23.3 01q23.3 hsa-mir-4654 MicroRNAs 476 2011-05-02 2016-11-16 100616386 ENSG00000266144 uc021pdp.1 NR_039798 MI0017282 HGNC:41643 +HGNC:41754 MIR4655 microRNA 4655 non-coding RNA RNA, micro Approved 7p22.3 07p22.3 hsa-mir-4655 MicroRNAs 476 2011-05-02 2016-11-16 100616160 ENSG00000265089 uc021zyt.1 NR_039799 MI0017283 HGNC:41754 +HGNC:41749 MIR4656 microRNA 4656 non-coding RNA RNA, micro Approved 7p22.1 07p22.1 hsa-mir-4656 MicroRNAs 476 2011-05-02 2016-11-16 100616465 ENSG00000264474 uc021zzb.1 NR_039800 MI0017284 HGNC:41749 +HGNC:41706 MIR4657 microRNA 4657 non-coding RNA RNA, micro Approved 7p13 07p13 hsa-mir-4657 MicroRNAs 476 2011-05-02 2016-11-16 100616393 ENSG00000284261 uc064dka.1 NR_039801 MI0017285 HGNC:41706 +HGNC:41673 MIR4658 microRNA 4658 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-4658 MicroRNAs 476 2011-05-02 2016-11-16 100616439 ENSG00000284518 uc022aih.1 NR_039802 MI0017286 HGNC:41673 +HGNC:41857 MIR4659A microRNA 4659a non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-4659a MicroRNAs 476 2011-05-02 2016-11-16 100616348 ENSG00000266038 NR_039803 MI0017287 HGNC:41857 +HGNC:41530 MIR4659B microRNA 4659b non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-4659b MicroRNAs 476 2011-05-02 2016-11-16 100616372 ENSG00000283386 uc022aqt.1 NR_039807 MI0017291 HGNC:41530 +HGNC:41861 MIR4660 microRNA 4660 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-4660 MicroRNAs 476 2011-05-02 2016-11-16 100616350 ENSG00000263407 uc022aro.1 NR_039804 MI0017288 HGNC:41861 +HGNC:41582 MIR4661 microRNA 4661 non-coding RNA RNA, micro Approved 8q21.3 08q21.3 hsa-mir-4661 MicroRNAs 476 2011-05-02 2016-11-16 100616245 ENSG00000266194 uc022axm.2 NR_039805 MI0017289 HGNC:41582 +HGNC:41826 MIR4662A microRNA 4662a non-coding RNA RNA, micro Approved 8q24.13 08q24.13 hsa-mir-4662a MicroRNAs 476 2011-05-02 2016-11-16 100616221 ENSG00000283609 uc033byf.1 NR_039806 MI0017290 HGNC:41826 +HGNC:41607 MIR4662B microRNA 4662b non-coding RNA RNA, micro Approved 8q24.13 08q24.13 hsa-mir-4662b MicroRNAs 476 2011-05-02 2016-11-16 100616255 ENSG00000263735 NR_039809 MI0017293 HGNC:41607 +HGNC:41623 MIR4663 microRNA 4663 non-coding RNA RNA, micro Approved 8q24.13 08q24.13 hsa-mir-4663 MicroRNAs 476 2011-05-02 2016-11-16 100616260 ENSG00000266324 uc022baj.1 NR_039808 MI0017292 HGNC:41623 +HGNC:41777 MIR4664 microRNA 4664 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-4664 MicroRNAs 476 2011-05-02 2016-11-16 100616318 ENSG00000265660 uc022bci.1 NR_039810 MI0017294 HGNC:41777 +HGNC:41696 MIR4665 microRNA 4665 non-coding RNA RNA, micro Approved 9p24.1 09p24.1 hsa-mir-4665 MicroRNAs 476 2011-05-02 2016-11-16 100616288 ENSG00000263575 uc022bde.1 NR_039811 MI0017295 HGNC:41696 +HGNC:41750 MIR4666A microRNA 4666a non-coding RNA RNA, micro Approved 1q42.13 01q42.13 hsa-mir-4666 MIR4666 microRNA 4666 MicroRNAs 476 2011-05-02 2011-11-14 2011-11-14 2016-11-16 100616308 ENSG00000266174 uc021pkh.1 NR_039812 MI0017296 HGNC:41750 +HGNC:43486 MIR4666B microRNA 4666b non-coding RNA RNA, micro Approved Xp21.2 Xp21.2 hsa-mir-4666b MicroRNAs 476 2011-11-14 2016-11-16 100847047 ENSG00000264090 uc033dtr.1 NR_049877 MI0019299 HGNC:43486 +HGNC:41723 MIR4667 microRNA 4667 non-coding RNA RNA, micro Approved 9p13.3 09p13.3 hsa-mir-4667 MicroRNAs 476 2011-05-02 2016-11-16 100616214 ENSG00000263892 NR_039813 MI0017297 HGNC:41723 +HGNC:41545 MIR4668 microRNA 4668 non-coding RNA RNA, micro Approved 9q31.3 09q31.3 hsa-mir-4668 MicroRNAs 476 2011-05-02 2016-11-16 100616114 ENSG00000266315 uc022blz.1 NR_039814 MI0017298 HGNC:41545 +HGNC:41558 MIR4669 microRNA 4669 non-coding RNA RNA, micro Approved 9q34.2 09q34.2 hsa-mir-4669 MicroRNAs 476 2011-05-02 2016-11-16 100616236 ENSG00000263897 uc022bpa.1 NR_039816 MI0017300 HGNC:41558 +HGNC:41862 MIR4670 microRNA 4670 non-coding RNA RNA, micro Approved 9q22.31 09q22.31 hsa-mir-4670 MicroRNAs 476 2011-05-02 2016-11-16 100616351 ENSG00000264158 uc022bjz.1 NR_039817 MI0017301 HGNC:41862 +HGNC:41598 MIR4671 microRNA 4671 non-coding RNA RNA, micro Approved 1q42.2 01q42.2 hsa-mir-4671 MicroRNAs 476 2011-05-02 2016-11-16 100616380 ENSG00000264377 uc021pkq.1 NR_039818 MI0017302 HGNC:41598 +HGNC:41662 MIR4672 microRNA 4672 non-coding RNA RNA, micro Approved 9q34.11 09q34.11 hsa-mir-4672 MicroRNAs 476 2011-05-02 2016-11-16 100616429 ENSG00000263979 uc022bnu.1 NR_039819 MI0017303 HGNC:41662 +HGNC:41574 MIR4673 microRNA 4673 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-4673 MicroRNAs 476 2011-05-02 2016-11-16 100616242 ENSG00000263403 uc022bpq.1 NR_039820 MI0017304 HGNC:41574 +HGNC:41729 MIR4674 microRNA 4674 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-4674 MicroRNAs 476 2011-05-02 2016-11-16 100616301 ENSG00000265181 uc022bpr.1 NR_039821 MI0017305 HGNC:41729 +HGNC:41619 MIR4675 microRNA 4675 non-coding RNA RNA, micro Approved 10p12.31 10p12.31 hsa-mir-4675 MicroRNAs 476 2011-05-02 2016-11-16 100616383 ENSG00000265372 uc021pnt.1 NR_039822 MI0017306 HGNC:41619 +HGNC:41691 MIR4676 microRNA 4676 non-coding RNA RNA, micro Approved 10q22.1 10q22.1 hsa-mir-4676 MicroRNAs 476 2011-05-02 2016-11-16 100616286 ENSG00000266719 uc021pti.1 NR_039823 MI0017307 HGNC:41691 +HGNC:41844 MIR4677 microRNA 4677 non-coding RNA RNA, micro Approved 1q43 01q43 hsa-mir-4677 MicroRNAs 476 2011-05-02 2016-11-16 100616343 ENSG00000265201 uc021plt.1 NR_039824 MI0017308 HGNC:41844 +HGNC:41717 MIR4678 microRNA 4678 non-coding RNA RNA, micro Approved 10q23.2 10q23.2 hsa-mir-4678 MicroRNAs 476 2011-05-02 2016-11-16 100616296 ENSG00000283672 NR_039825 MI0017309 HGNC:41717 +HGNC:41612 MIR4679-1 microRNA 4679-1 non-coding RNA RNA, micro Approved 10q23.31 10q23.31 hsa-mir-4679-1 MicroRNAs 476 2011-05-02 2016-11-16 100616128 ENSG00000283664 uc021pwa.1 NR_039826 MI0017310 HGNC:41612 +HGNC:41890 MIR4679-2 microRNA 4679-2 non-coding RNA RNA, micro Approved 10q23.31 10q23.31 hsa-mir-4679-2 MicroRNAs 476 2011-05-02 2016-11-16 100616192 ENSG00000265375 NR_039827 MI0017311 HGNC:41890 +HGNC:41541 MIR4680 microRNA 4680 non-coding RNA RNA, micro Approved 10q25.2 10q25.2 hsa-mir-4680 MicroRNAs 476 2011-05-02 2016-11-16 100616113 ENSG00000284482 uc021pye.2 NR_039828 MI0017312 HGNC:41541 +HGNC:41753 MIR4681 microRNA 4681 non-coding RNA RNA, micro Approved 10q26.11 10q26.11 hsa-mir-4681 MicroRNAs 476 2011-05-02 2016-11-16 100616398 ENSG00000265719 uc021pzq.1 NR_039829 MI0017313 HGNC:41753 +HGNC:41788 MIR4682 microRNA 4682 non-coding RNA RNA, micro Approved 10q26.12 10q26.12 hsa-mir-4682 MicroRNAs 476 2011-05-02 2016-11-16 100616322 ENSG00000265370 uc021pzs.1 NR_039830 MI0017314 HGNC:41788 +HGNC:41883 MIR4683 microRNA 4683 non-coding RNA RNA, micro Approved 10p11.21 10p11.21 hsa-mir-4683 MicroRNAs 476 2011-05-02 2016-11-16 100616500 ENSG00000284265 uc057sts.1 NR_039831 MI0017315 HGNC:41883 +HGNC:41695 MIR4684 microRNA 4684 non-coding RNA RNA, micro Approved 1p36.12 01p36.12 hsa-mir-4684 MicroRNAs 476 2011-05-02 2016-11-16 100616391 ENSG00000265422 uc021oib.1 NR_039832 MI0017316 HGNC:41695 +HGNC:41802 MIR4685 microRNA 4685 non-coding RNA RNA, micro Approved 10q24.2 10q24.2 hsa-mir-4685 MicroRNAs 476 2011-05-02 2016-11-16 100616482 ENSG00000264610 uc021pww.2 NR_039833 MI0017317 HGNC:41802 +HGNC:41601 MIR4686 microRNA 4686 non-coding RNA RNA, micro Approved 11p15.5 11p15.5 hsa-mir-4686 MicroRNAs 476 2011-05-02 2016-11-16 100616126 ENSG00000265258 uc021qce.1 NR_039834 MI0017318 HGNC:41601 +HGNC:41712 MIR4687 microRNA 4687 non-coding RNA RNA, micro Approved 11p15.4 11p15.4 hsa-mir-4687 MicroRNAs 476 2011-05-02 2016-11-16 100616453 ENSG00000284525 uc021qcp.1 NR_039835 MI0017319 HGNC:41712 +HGNC:41897 MIR4688 microRNA 4688 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-4688 MicroRNAs 476 2011-05-02 2016-11-16 100616368 ENSG00000264102 uc021qim.1 NR_039837 MI0017321 HGNC:41897 +HGNC:41895 MIR4689 microRNA 4689 non-coding RNA RNA, micro Approved 1p36.31 01p36.31 hsa-mir-4689 MicroRNAs 476 2011-05-02 2016-11-16 100616421 ENSG00000264101 uc021ofn.1 NR_039838 MI0017322 HGNC:41895 +HGNC:41707 MIR4690 microRNA 4690 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-4690 MicroRNAs 476 2011-05-02 2016-11-16 100616292 ENSG00000266041 uc021qln.1 NR_039839 MI0017323 HGNC:41707 +HGNC:41796 MIR4691 microRNA 4691 non-coding RNA RNA, micro Approved 11q13.2 11q13.2 hsa-mir-4691 MicroRNAs 476 2011-05-02 2016-11-16 100616403 ENSG00000284435 uc021qml.1 NR_039840 MI0017324 HGNC:41796 +HGNC:41856 MIR4692 microRNA 4692 non-coding RNA RNA, micro Approved 11q13.4 11q13.4 hsa-mir-4692 MicroRNAs 476 2011-05-02 2016-11-16 100616410 ENSG00000265064 uc021qmz.1 NR_039841 MI0017325 HGNC:41856 +HGNC:41818 MIR4693 microRNA 4693 non-coding RNA RNA, micro Approved 11q22.3 11q22.3 hsa-mir-4693 MicroRNAs 476 2011-05-02 2016-11-16 100616457 ENSG00000264200 uc021qpj.1 NR_039842 MI0017326 HGNC:41818 +HGNC:41586 MIR4694 microRNA 4694 non-coding RNA RNA, micro Approved 11p15.1 11p15.1 hsa-mir-4694 MicroRNAs 476 2011-05-02 2016-11-16 100616426 ENSG00000264309 uc021qex.1 NR_039843 MI0017327 HGNC:41586 +HGNC:41573 MIR4695 microRNA 4695 non-coding RNA RNA, micro Approved 1p36.13 01p36.13 hsa-mir-4695 MicroRNAs 476 2011-05-02 2016-11-16 100616120 ENSG00000265606 uc021ohm.2 NR_039844 MI0017328 HGNC:41573 +HGNC:41780 MIR4696 microRNA 4696 non-coding RNA RNA, micro Approved 11q13.4 11q13.4 hsa-mir-4696 MicroRNAs 476 2011-05-02 2016-11-16 100616402 ENSG00000265902 uc021qnh.1 NR_039845 MI0017329 HGNC:41780 +HGNC:41570 MIR4697 microRNA 4697 non-coding RNA RNA, micro Approved 11q25 11q25 hsa-mir-4697 MicroRNAs 476 2011-05-02 2018-02-07 100616119 ENSG00000284020 uc058jgd.1 NR_039846 MI0017330 HGNC:41570 +HGNC:41867 MIR4698 microRNA 4698 non-coding RNA RNA, micro Approved 12q13.11 12q13.11 hsa-mir-4698 MicroRNAs 476 2011-05-02 2016-11-16 100616486 ENSG00000263838 uc021qxh.1 NR_039847 MI0017331 HGNC:41867 +HGNC:41636 MIR4699 microRNA 4699 non-coding RNA RNA, micro Approved 12q21.31 12q21.31 hsa-mir-4699 MicroRNAs 476 2011-05-02 2016-11-16 100616133 ENSG00000265227 uc021rbd.1 NR_039848 MI0017332 HGNC:41636 +HGNC:41806 MIR4700 microRNA 4700 non-coding RNA RNA, micro Approved 12q24.31 12q24.31 hsa-mir-4700 MicroRNAs 476 2011-05-02 2016-11-16 100616329 ENSG00000284143 uc021rew.1 NR_039849 MI0017333 HGNC:41806 +HGNC:41627 MIR4701 microRNA 4701 non-coding RNA RNA, micro Approved 12q13.12 12q13.12 hsa-mir-4701 MicroRNAs 476 2011-05-02 2016-11-16 100616262 ENSG00000264201 uc021qxl.2 NR_039850 MI0017334 HGNC:41627 +HGNC:41817 MIR4703 microRNA 4703 non-coding RNA RNA, micro Approved 13q14.3 13q14.3 hsa-mir-4703 MicroRNAs 476 2011-05-02 2016-11-16 100616423 ENSG00000266611 uc021rju.1 NR_039852 MI0017336 HGNC:41817 +HGNC:41602 MIR4704 microRNA 4704 non-coding RNA RNA, micro Approved 13q21.32 13q21.32 hsa-mir-4704 MicroRNAs 476 2011-05-02 2016-11-16 100616205 ENSG00000263561 uc032ain.1 NR_039853 MI0017337 HGNC:41602 +HGNC:41567 MIR4705 microRNA 4705 non-coding RNA RNA, micro Approved 13q33.1 13q33.1 hsa-mir-4705 MicroRNAs 476 2011-05-02 2016-11-16 100616239 ENSG00000264482 uc021rmf.1 NR_039854 MI0017338 HGNC:41567 +HGNC:41576 MIR4706 microRNA 4706 non-coding RNA RNA, micro Approved 14q23.3 14q23.3 hsa-mir-4706 MicroRNAs 476 2011-05-02 2016-11-16 100616490 ENSG00000266531 uc021ruu.1 NR_039855 MI0017339 HGNC:41576 +HGNC:41531 MIR4707 microRNA 4707 non-coding RNA RNA, micro Approved 14q11.2 14q11.2 hsa-mir-4707 MicroRNAs 476 2011-05-02 2016-11-16 100616424 ENSG00000284118 uc021rqu.1 NR_039856 MI0017340 HGNC:41531 +HGNC:41824 MIR4708 microRNA 4708 non-coding RNA RNA, micro Approved 14q23.3 14q23.3 hsa-mir-4708 MicroRNAs 476 2011-05-02 2016-11-16 100616176 ENSG00000266740 uc021ruw.2 NR_039857 MI0017341 HGNC:41824 +HGNC:41690 MIR4709 microRNA 4709 non-coding RNA RNA, micro Approved 14q24.3 14q24.3 hsa-mir-4709 MicroRNAs 476 2011-05-02 2016-11-16 100616211 ENSG00000283944 uc021rwm.1 NR_039858 MI0017342 HGNC:41690 +HGNC:41727 MIR4710 microRNA 4710 non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-4710 MicroRNAs 476 2011-05-02 2016-11-16 100616300 ENSG00000265291 uc021sek.1 NR_039860 MI0017344 HGNC:41727 +HGNC:41847 MIR4711 microRNA 4711 non-coding RNA RNA, micro Approved 1p32.1 01p32.1 hsa-mir-4711 MicroRNAs 476 2011-05-02 2016-11-16 100616409 ENSG00000266150 uc021oob.1 NR_039861 MI0017345 HGNC:41847 +HGNC:41732 MIR4712 microRNA 4712 non-coding RNA RNA, micro Approved 15q21.2 15q21.2 hsa-mir-4712 MicroRNAs 476 2011-05-02 2016-11-16 100616396 ENSG00000284284 uc021skw.1 NR_039862 MI0017346 HGNC:41732 +HGNC:41899 MIR4713 microRNA 4713 non-coding RNA RNA, micro Approved 15q21.2 15q21.2 hsa-mir-4713 MicroRNAs 476 2011-05-02 2016-11-16 100616369 ENSG00000266593 uc021slb.1 NR_039863 MI0017347 HGNC:41899 +HGNC:53124 MIR4713HG MIR4713 host gene non-coding RNA RNA, long non-coding Approved 15q21.2 15q21.2 RP11-108K3.1 MicroRNA non-coding host genes 1688 2017-02-15 2017-02-15 109729174 ENSG00000259240 OTTHUMG00000172467 NR_146310 28187432 HGNC:53124 +HGNC:41763 MIR4714 microRNA 4714 non-coding RNA RNA, micro Approved 15q26.3 15q26.3 hsa-mir-4714 MicroRNAs 476 2011-05-02 2016-11-16 100616432 ENSG00000264480 uc021sxh.1 NR_039864 MI0017348 HGNC:41763 +HGNC:41666 MIR4715 microRNA 4715 non-coding RNA RNA, micro Approved 15q12 15q12 hsa-mir-4715 MicroRNAs 476 2011-05-02 2016-11-16 100616474 ENSG00000266517 uc021sgc.1 NR_039865 MI0017349 HGNC:41666 +HGNC:41812 MIR4716 microRNA 4716 non-coding RNA RNA, micro Approved 15q21.1 15q21.1 hsa-mir-4716 MicroRNAs 476 2011-05-02 2016-11-16 100616332 ENSG00000264210 uc021skt.1 NR_039866 MI0017350 HGNC:41812 +HGNC:41571 MIR4717 microRNA 4717 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-4717 MicroRNAs 476 2011-05-02 2016-11-16 100616241 ENSG00000264004 uc021tau.1 NR_039868 MI0017352 HGNC:41571 +HGNC:41900 MIR4718 microRNA 4718 non-coding RNA RNA, micro Approved 16p13.12 16p13.12 hsa-mir-4718 MicroRNAs 476 2011-05-02 2016-11-16 100616195 ENSG00000264733 uc021tdb.1 NR_039869 MI0017353 HGNC:41900 +HGNC:41807 MIR4719 microRNA 4719 non-coding RNA RNA, micro Approved 16q23.1 16q23.1 hsa-mir-4719 MicroRNAs 476 2011-05-02 2016-11-16 100616172 ENSG00000266426 uc021tln.1 NR_039870 MI0017354 HGNC:41807 +HGNC:41705 MIR4720 microRNA 4720 non-coding RNA RNA, micro Approved 16q23.2 16q23.2 hsa-mir-4720 MicroRNAs 476 2011-05-02 2018-02-06 100616150 ENSG00000284473 uc021tls.1 NR_039871 MI0017355 HGNC:41705 +HGNC:41609 MIR4721 microRNA 4721 non-coding RNA RNA, micro Approved 16p11.2 16p11.2 hsa-mir-4721 MicroRNAs 476 2011-05-02 2016-11-16 100616256 ENSG00000283845 uc021tft.1 NR_039872 MI0017356 HGNC:41609 +HGNC:41782 MIR4722 microRNA 4722 non-coding RNA RNA, micro Approved 16q24.3 16q24.3 hsa-mir-4722 MicroRNAs 476 2011-05-02 2016-11-16 100616167 ENSG00000284585 uc021tmp.1 NR_039873 MI0017357 HGNC:41782 +HGNC:41660 MIR4723 microRNA 4723 non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-4723 MicroRNAs 476 2011-05-02 2016-11-16 100616388 ENSG00000284532 uc021ttq.2 NR_039875 MI0017359 HGNC:41660 +HGNC:41590 MIR4724 microRNA 4724 non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-4724 MicroRNAs 476 2011-05-02 2016-11-16 100616248 ENSG00000284424 uc021tun.1 NR_039877 MI0017361 HGNC:41590 +HGNC:41608 MIR4725 microRNA 4725 non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-4725 MicroRNAs 476 2011-05-02 2016-11-16 100616449 ENSG00000265976 uc021tur.1 NR_039878 MI0017362 HGNC:41608 +HGNC:41722 MIR4726 microRNA 4726 non-coding RNA RNA, micro Approved 17q12 17q12 hsa-mir-4726 MicroRNAs 476 2011-05-02 2016-11-16 100616153 ENSG00000273627 uc021twg.1 NR_039879 MI0017363 HGNC:41722 +HGNC:41709 MIR4727 microRNA 4727 non-coding RNA RNA, micro Approved 17q12 17q12 hsa-mir-4727 MicroRNAs 476 2011-05-02 2016-11-16 100616416 ENSG00000274054 uc021twk.1 NR_039880 MI0017364 HGNC:41709 +HGNC:41632 MIR4728 microRNA 4728 non-coding RNA RNA, micro Approved 17q12 17q12 hsa-mir-4728 MicroRNAs 476 2011-05-02 2016-11-16 100616132 ENSG00000265178 uc021twt.2 NR_039881 MI0017365 HGNC:41632 +HGNC:41585 MIR4729 microRNA 4729 non-coding RNA RNA, micro Approved 17q22 17q22 hsa-mir-4729 MicroRNAs 476 2011-05-02 2016-11-16 100616204 ENSG00000263857 uc021uat.1 NR_039882 MI0017366 HGNC:41585 +HGNC:41880 MIR4730 microRNA 4730 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-4730 MicroRNAs 476 2011-05-02 2016-11-16 100616359 ENSG00000264961 uc021uet.1 NR_039883 MI0017367 HGNC:41880 +HGNC:41597 MIR4731 microRNA 4731 non-coding RNA RNA, micro Approved 17p12 17p12 hsa-mir-4731 MicroRNAs 476 2011-05-02 2016-11-16 100616125 ENSG00000265110 uc021tqk.1 NR_039884 MI0017368 HGNC:41597 +HGNC:41639 MIR4732 microRNA 4732 non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-4732 MicroRNAs 476 2011-05-02 2017-11-17 100616385 ENSG00000284085 uc021ttx.1 NR_039885 MI0017369 HGNC:41639 +HGNC:41638 MIR4733 microRNA 4733 non-coding RNA RNA, micro Approved 17q11.2 17q11.2 hsa-mir-4733 MicroRNAs 476 2011-05-02 2016-11-16 100616266 ENSG00000265444 uc021tui.1 NR_039886 MI0017370 HGNC:41638 +HGNC:55332 MIR4733HG MIR4733 host gene non-coding RNA RNA, long non-coding Approved 17q11.2 17q11.2 MicroRNA non-coding host genes 1688 2020-10-21 2020-10-21 119139899 ENSG00000264107 +HGNC:41572 MIR4734 microRNA 4734 non-coding RNA RNA, micro Approved 17q12 17q12 hsa-mir-4734 MicroRNAs 476 2011-05-02 2016-11-16 100616203 ENSG00000275238 uc032glk.1 NR_039887 MI0017371 HGNC:41572 +HGNC:41888 MIR4735 microRNA 4735 non-coding RNA RNA, micro Approved 1q31.3 01q31.3 hsa-mir-4735 MicroRNAs 476 2011-05-02 2016-11-16 100616363 ENSG00000265986 uc021pgs.1 NR_039888 MI0017372 HGNC:41888 +HGNC:41804 MIR4736 microRNA 4736 non-coding RNA RNA, micro Approved 17q22 17q22 hsa-mir-4736 MicroRNAs 476 2011-05-02 2016-11-16 100616220 ENSG00000264399 uc021uap.1 NR_039889 MI0017373 HGNC:41804 +HGNC:41669 MIR4737 microRNA 4737 non-coding RNA RNA, micro Approved 17q23.1 17q23.1 hsa-mir-4737 MicroRNAs 476 2011-05-02 2016-11-16 100616210 ENSG00000264049 uc021uba.1 NR_039890 MI0017374 HGNC:41669 +HGNC:41679 MIR4738 microRNA 4738 non-coding RNA RNA, micro Approved 17q25.1 17q25.1 hsa-mir-4738 MicroRNAs 476 2011-05-02 2016-11-16 100616282 ENSG00000283853 uc021udc.1 NR_039892 MI0017376 HGNC:41679 +HGNC:41801 MIR4739 microRNA 4739 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-4739 MicroRNAs 476 2011-05-02 2016-11-16 100616170 ENSG00000266665 uc021uel.1 NR_039893 MI0017377 HGNC:41801 +HGNC:41711 MIR4740 microRNA 4740 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-4740 MicroRNAs 476 2011-05-02 2016-11-16 100616294 ENSG00000266392 uc021uez.1 NR_039894 MI0017378 HGNC:41711 +HGNC:41661 MIR4741 microRNA 4741 non-coding RNA RNA, micro Approved 18q11.2 18q11.2 hsa-mir-4741 MicroRNAs 476 2011-05-02 2016-11-16 100616139 ENSG00000284331 uc021uid.1 NR_039895 MI0017379 HGNC:41661 +HGNC:41565 MIR4742 microRNA 4742 non-coding RNA RNA, micro Approved 1q42.11 01q42.11 hsa-mir-4742 MicroRNAs 476 2011-05-02 2016-11-16 100616468 ENSG00000266618 uc021pjq.1 NR_039896 MI0017380 HGNC:41565 +HGNC:41894 MIR4743 microRNA 4743 non-coding RNA RNA, micro Approved 18q21.1 18q21.1 hsa-mir-4743 MicroRNAs 476 2011-05-02 2016-11-16 100616366 ENSG00000266276 NR_039897 MI0017381 HGNC:41894 +HGNC:41866 MIR4744 microRNA 4744 non-coding RNA RNA, micro Approved 18q21.1 18q21.1 hsa-mir-4744 MicroRNAs 476 2011-05-02 2016-11-16 100616420 ENSG00000263849 uc021ujs.1 NR_039898 MI0017382 HGNC:41866 +HGNC:41868 MIR4745 microRNA 4745 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-4745 MicroRNAs 476 2011-05-02 2016-11-16 100616459 ENSG00000284361 uc021uly.2 NR_039900 MI0017384 HGNC:41868 +HGNC:41904 MIR4746 microRNA 4746 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-4746 MicroRNAs 476 2011-05-02 2016-11-16 100616371 ENSG00000266437 uc021und.1 NR_039901 MI0017385 HGNC:41904 +HGNC:41827 MIR4747 microRNA 4747 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-4747 MicroRNAs 476 2011-05-02 2016-11-16 100616337 ENSG00000263409 uc021unk.1 NR_039902 MI0017386 HGNC:41827 +HGNC:41557 MIR4748 microRNA 4748 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-4748 MicroRNAs 476 2011-05-02 2016-11-16 100616425 ENSG00000265879 uc021upa.1 NR_039903 MI0017387 HGNC:41557 +HGNC:41760 MIR4749 microRNA 4749 non-coding RNA RNA, micro Approved 19q13.33 19q13.33 hsa-mir-4749 MicroRNAs 476 2011-05-02 2016-11-16 100616313 ENSG00000265954 uc021uxw.2 NR_039904 MI0017388 HGNC:41760 +HGNC:41765 MIR4750 microRNA 4750 non-coding RNA RNA, micro Approved 19q13.33 19q13.33 hsa-mir-4750 MicroRNAs 476 2011-05-02 2016-11-16 100616314 ENSG00000284394 uc021uxz.2 NR_039905 MI0017389 HGNC:41765 +HGNC:41819 MIR4751 microRNA 4751 non-coding RNA RNA, micro Approved 19q13.33 19q13.33 hsa-mir-4751 MicroRNAs 476 2011-05-02 2016-11-16 100616483 ENSG00000283842 uc021uyb.1 NR_039906 MI0017390 HGNC:41819 +HGNC:41803 MIR4752 microRNA 4752 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-4752 MicroRNAs 476 2011-05-02 2016-11-16 100616171 ENSG00000264703 uc021vbj.1 NR_039907 MI0017391 HGNC:41803 +HGNC:41527 MIR4753 microRNA 4753 non-coding RNA RNA, micro Approved 1q42.3 01q42.3 hsa-mir-4753 MicroRNAs 476 2011-05-02 2016-11-16 100616224 ENSG00000263439 uc021pkt.1 NR_039908 MI0017392 HGNC:41527 +HGNC:41786 MIR4754 microRNA 4754 non-coding RNA RNA, micro Approved 19q13.43 19q13.43 hsa-mir-4754 MicroRNAs 476 2011-05-02 2016-11-16 100616168 ENSG00000266640 uc021vcy.1 NR_039910 MI0017394 HGNC:41786 +HGNC:41815 MIR4755 microRNA 4755 non-coding RNA RNA, micro Approved 20q11.22 20q11.22 hsa-mir-4755 MicroRNAs 476 2011-05-02 2016-11-16 100616434 ENSG00000264616 uc021wca.1 NR_039911 MI0017395 HGNC:41815 +HGNC:41529 MIR4756 microRNA 4756 non-coding RNA RNA, micro Approved 20q13.2 20q13.2 hsa-mir-4756 MicroRNAs 476 2011-05-02 2016-11-16 100616225 ENSG00000265595 uc021wey.1 NR_039913 MI0017397 HGNC:41529 +HGNC:41746 MIR4757 microRNA 4757 non-coding RNA RNA, micro Approved 2p24.1 02p24.1 hsa-mir-4757 MicroRNAs 476 2011-05-02 2016-11-16 100616307 ENSG00000266738 uc021vek.1 NR_039914 MI0017398 HGNC:41746 +HGNC:41836 MIR4758 microRNA 4758 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-4758 MicroRNAs 476 2011-05-02 2016-11-16 100616340 ENSG00000284074 uc021wfx.2 NR_039915 MI0017399 HGNC:41836 +HGNC:41575 MIR4759 microRNA 4759 non-coding RNA RNA, micro Approved 21q21.3 21q21.3 hsa-mir-4759 MicroRNAs 476 2011-05-02 2016-11-16 100616243 ENSG00000266133 uc021wic.1 NR_039916 MI0017400 HGNC:41575 +HGNC:41698 MIR4760 microRNA 4760 non-coding RNA RNA, micro Approved 21q22.2 21q22.2 hsa-mir-4760 MicroRNAs 476 2011-05-02 2016-11-16 100616148 ENSG00000263973 uc021wjk.1 NR_039917 MI0017401 HGNC:41698 +HGNC:41591 MIR4761 microRNA 4761 non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-4761 MicroRNAs 476 2011-05-02 2016-11-16 100616414 ENSG00000284031 uc021wln.1 NR_039918 MI0017402 HGNC:41591 +HGNC:41603 MIR4762 microRNA 4762 non-coding RNA RNA, micro Approved 22q13.31 22q13.31 hsa-mir-4762 MicroRNAs 476 2011-05-02 2016-11-16 100616253 ENSG00000264160 uc021wrl.1 NR_039919 MI0017403 HGNC:41603 +HGNC:41677 MIR4763 microRNA 4763 non-coding RNA RNA, micro Approved 22q13.31 22q13.31 hsa-mir-4763 MicroRNAs 476 2011-05-02 2016-11-16 100616143 ENSG00000284175 uc021wrp.1 NR_039920 MI0017404 HGNC:41677 +HGNC:41714 MIR4764 microRNA 4764 non-coding RNA RNA, micro Approved 22q12.3 22q12.3 hsa-mir-4764 MicroRNAs 476 2011-05-02 2016-11-16 100616295 ENSG00000266012 uc021woh.1 NR_039921 MI0017405 HGNC:41714 +HGNC:41791 MIR4765 microRNA 4765 non-coding RNA RNA, micro Approved 2p22.3 02p22.3 hsa-mir-4765 MicroRNAs 476 2011-05-02 2016-11-16 100616219 ENSG00000265057 uc021vfs.1 NR_039922 MI0017406 HGNC:41791 +HGNC:41680 MIR4766 microRNA 4766 non-coding RNA RNA, micro Approved 22q13.2 22q13.2 hsa-mir-4766 MicroRNAs 476 2011-05-02 2016-11-16 100616283 ENSG00000266594 uc021wqc.1 NR_039923 MI0017407 HGNC:41680 +HGNC:41548 MIR4767 microRNA 4767 non-coding RNA RNA, micro Approved Xp22.31 Xp22.31 hsa-mir-4767 MicroRNAs 476 2011-05-02 2016-11-16 100616467 ENSG00000264268 uc022bsh.1 NR_039924 MI0017408 HGNC:41548 +HGNC:41592 MIR4768 microRNA 4768 non-coding RNA RNA, micro Approved Xp22.13 Xp22.13 hsa-mir-4768 MicroRNAs 476 2011-05-02 2016-11-16 100616249 ENSG00000265465 uc022btk.1 NR_039925 MI0017409 HGNC:41592 +HGNC:41694 MIR4769 microRNA 4769 non-coding RNA RNA, micro Approved Xp11.3 Xp11.3 hsa-mir-4769 MicroRNAs 476 2011-05-02 2016-11-16 100616147 ENSG00000263858 uc022bvo.1 NR_039926 MI0017410 HGNC:41694 +HGNC:41542 MIR4770 microRNA 4770 non-coding RNA RNA, micro Approved Xp22.31 Xp22.31 hsa-mir-4770 MicroRNAs 476 2011-05-02 2016-11-16 100616373 ENSG00000265284 uc022bsf.1 NR_039927 MI0017411 HGNC:41542 +HGNC:41901 MIR4771-1 microRNA 4771-1 non-coding RNA RNA, micro Approved 2p11.2 02p11.2 hsa-mir-4771-1 MicroRNAs 476 2011-05-02 2016-11-16 100616370 ENSG00000264793 uc032ntz.1 NR_039928 MI0017412 HGNC:41901 +HGNC:41774 MIR4771-2 microRNA 4771-2 non-coding RNA RNA, micro Approved 2q13 02q13 hsa-mir-4771-2 MicroRNAs 476 2011-05-02 2016-11-16 100616165 ENSG00000266063 uc032nyo.1 NR_039929 MI0017413 HGNC:41774 +HGNC:41741 MIR4772 microRNA 4772 non-coding RNA RNA, micro Approved 2q12.1 02q12.1 hsa-mir-4772 MicroRNAs 476 2011-05-02 2016-11-16 100616157 ENSG00000264764 uc021vlr.1 NR_039930 MI0017414 HGNC:41741 +HGNC:41699 MIR4773-1 microRNA 4773-1 non-coding RNA RNA, micro Approved 2q23.3 02q23.3 hsa-mir-4773-1 MicroRNAs 476 2011-05-02 2017-11-17 100616392 ENSG00000264684 uc021vqz.1 NR_039931 MI0017415 HGNC:41699 +HGNC:41790 MIR4773-2 microRNA 4773-2 non-coding RNA RNA, micro Approved 2q23.3 02q23.3 hsa-mir-4773-2 MicroRNAs 476 2011-05-02 2017-11-17 100616418 ENSG00000283569 NR_039932 MI0017416 HGNC:41790 +HGNC:41873 MIR4774 microRNA 4774 non-coding RNA RNA, micro Approved 2q24.3 02q24.3 hsa-mir-4774 MicroRNAs 476 2011-05-02 2014-11-18 100616356 ENSG00000265694 uc021vse.1 NR_039933 MI0017417 HGNC:41873 +HGNC:41885 MIR4775 microRNA 4775 non-coding RNA RNA, micro Approved 2q33.3 02q33.3 hsa-mir-4775 MicroRNAs 476 2011-05-02 2016-11-16 100616361 ENSG00000284079 uc021vvq.1 NR_039934 MI0017418 HGNC:41885 +HGNC:41641 MIR4776-1 microRNA 4776-1 non-coding RNA RNA, micro Approved 2q34 02q34 hsa-mir-4776-1 MicroRNAs 476 2011-05-02 2017-11-17 100616267 ENSG00000266354 NR_039935 MI0017419 HGNC:41641 +HGNC:41631 MIR4776-2 microRNA 4776-2 non-coding RNA RNA, micro Approved 2q34 02q34 hsa-mir-4776-2 MicroRNAs 476 2011-05-02 2017-11-17 100616472 ENSG00000283637 uc021vvz.1 NR_039936 MI0017420 HGNC:41631 +HGNC:41773 MIR4777 microRNA 4777 non-coding RNA RNA, micro Approved 2q37.1 02q37.1 hsa-mir-4777 MicroRNAs 476 2011-05-02 2016-11-16 100616317 ENSG00000263641 uc021vyb.1 NR_039937 MI0017421 HGNC:41773 +HGNC:41648 MIR4778 microRNA 4778 non-coding RNA RNA, micro Approved 2p14 02p14 hsa-mir-4778 MicroRNAs 476 2011-05-02 2016-11-16 100616464 ENSG00000264525 uc021vis.1 NR_039938 MI0017422 HGNC:41648 +HGNC:41747 MIR4779 microRNA 4779 non-coding RNA RNA, micro Approved 2p11.2 02p11.2 hsa-mir-4779 MicroRNAs 476 2011-05-02 2016-11-16 100616159 ENSG00000265420 uc021vkd.1 NR_039939 MI0017423 HGNC:41747 +HGNC:41552 MIR4780 microRNA 4780 non-coding RNA RNA, micro Approved 2p11.2 02p11.2 hsa-mir-4780 MicroRNAs 476 2011-05-02 2016-11-16 100616447 ENSG00000265003 uc021vkp.1 NR_039940 MI0017424 HGNC:41552 +HGNC:41769 MIR4781 microRNA 4781 non-coding RNA RNA, micro Approved 1p32.3 01p32.3 hsa-mir-4781 MicroRNAs 476 2011-05-02 2016-11-16 100616315 ENSG00000283749 uc021ons.1 NR_039942 MI0017426 HGNC:41769 +HGNC:41635 MIR4782 microRNA 4782 non-coding RNA RNA, micro Approved 2q14.1 02q14.1 hsa-mir-4782 MicroRNAs 476 2011-05-02 2016-11-16 100616208 ENSG00000265429 NR_039943 MI0017427 HGNC:41635 +HGNC:41874 MIR4783 microRNA 4783 non-coding RNA RNA, micro Approved 2q14.3 02q14.3 hsa-mir-4783 MicroRNAs 476 2011-05-02 2016-11-16 100616187 ENSG00000264075 uc021vno.1 NR_039944 MI0017428 HGNC:41874 +HGNC:41580 MIR4784 microRNA 4784 non-coding RNA RNA, micro Approved 2q21.1 02q21.1 hsa-mir-4784 MicroRNAs 476 2011-05-02 2016-11-16 100616378 ENSG00000284149 uc021vpp.1 NR_039945 MI0017429 HGNC:41580 +HGNC:41889 MIR4785 microRNA 4785 non-coding RNA RNA, micro Approved 2q24.2 02q24.2 hsa-mir-4785 MicroRNAs 476 2011-05-02 2016-11-16 100616364 ENSG00000283734 uc021vru.1 NR_039946 MI0017430 HGNC:41889 +HGNC:41751 MIR4786 microRNA 4786 non-coding RNA RNA, micro Approved 2q37.3 02q37.3 hsa-mir-4786 MicroRNAs 476 2011-05-02 2016-11-16 100616417 ENSG00000264279 uc021vzd.1 NR_039949 MI0017433 HGNC:41751 +HGNC:41653 MIR4787 microRNA 4787 non-coding RNA RNA, micro Approved 3p21.2 03p21.2 hsa-mir-4787 MicroRNAs 476 2011-05-02 2016-11-16 100616138 ENSG00000272543 uc021wyr.1 NR_039950 MI0017434 HGNC:41653 +HGNC:41676 MIR4788 microRNA 4788 non-coding RNA RNA, micro Approved 3q22.2 03q22.2 hsa-mir-4788 MicroRNAs 476 2011-05-02 2016-11-16 100616281 uc021xeh.1 NR_039951 MI0017435 HGNC:41676 +HGNC:41719 MIR4789 microRNA 4789 non-coding RNA RNA, micro Approved 3q26.31 03q26.31 hsa-mir-4789 MicroRNAs 476 2011-05-02 2016-11-16 100616395 ENSG00000264974 uc021xhq.1 NR_039952 MI0017436 HGNC:41719 +HGNC:41820 MIR4790 microRNA 4790 non-coding RNA RNA, micro Approved 3p26.1 03p26.1 hsa-mir-4790 MicroRNAs 476 2011-05-02 2016-11-16 100616334 ENSG00000265180 uc021wsm.1 NR_039953 MI0017437 HGNC:41820 +HGNC:41704 MIR4791 microRNA 4791 non-coding RNA RNA, micro Approved 3p24.3 03p24.3 hsa-mir-4791 MicroRNAs 476 2011-05-02 2016-11-16 100616291 ENSG00000271898 uc021wtv.1 NR_039954 MI0017438 HGNC:41704 +HGNC:41538 MIR4793 microRNA 4793 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-4793 MicroRNAs 476 2011-05-02 2016-11-16 100616112 ENSG00000284575 uc021wxq.1 NR_039956 MI0017440 HGNC:41538 +HGNC:41829 MIR4794 microRNA 4794 non-coding RNA RNA, micro Approved 1p31.3 01p31.3 hsa-mir-4794 MicroRNAs 476 2011-05-02 2016-11-16 100616338 ENSG00000264470 uc021ooh.2 NR_039957 MI0017441 HGNC:41829 +HGNC:41757 MIR4795 microRNA 4795 non-coding RNA RNA, micro Approved 3p11.2 03p11.2 hsa-mir-4795 MicroRNAs 476 2011-05-02 2016-11-16 100616161 ENSG00000264119 uc021xbb.1 NR_039958 MI0017442 HGNC:41757 +HGNC:41779 MIR4796 microRNA 4796 non-coding RNA RNA, micro Approved 3q13.31 03q13.31 hsa-mir-4796 MicroRNAs 476 2011-05-02 2016-11-16 100616166 ENSG00000264623 NR_039959 MI0017443 HGNC:41779 +HGNC:41758 MIR4797 microRNA 4797 non-coding RNA RNA, micro Approved 3q29 03q29 hsa-mir-4797 MicroRNAs 476 2011-05-02 2016-11-16 100616216 ENSG00000265850 uc021xju.1 NR_039960 MI0017444 HGNC:41758 +HGNC:41616 MIR4798 microRNA 4798 non-coding RNA RNA, micro Approved 4p16.1 04p16.1 hsa-mir-4798 MicroRNAs 476 2011-05-02 2016-11-16 100616471 ENSG00000264658 uc021xlf.1 NR_039961 MI0017445 HGNC:41616 +HGNC:41584 MIR4799 microRNA 4799 non-coding RNA RNA, micro Approved 4q31.23 04q31.23 hsa-mir-4799 MicroRNAs 476 2011-05-02 2016-11-16 100616246 ENSG00000264274 uc021xso.1 NR_039962 MI0017446 HGNC:41584 +HGNC:41877 MIR4800 microRNA 4800 non-coding RNA RNA, micro Approved 4p16.3 04p16.3 hsa-mir-4800 MicroRNAs 476 2011-05-02 2016-11-16 100616358 ENSG00000284276 uc021xkp.1 NR_039964 MI0017448 HGNC:41877 +HGNC:41840 MIR4801 microRNA 4801 non-coding RNA RNA, micro Approved 4p14 04p14 hsa-mir-4801 MicroRNAs 476 2011-05-02 2016-11-16 100616435 ENSG00000264319 uc021xnf.1 NR_039965 MI0017449 HGNC:41840 +HGNC:41658 MIR4802 microRNA 4802 non-coding RNA RNA, micro Approved 4p14 04p14 hsa-mir-4802 MicroRNAs 476 2011-05-02 2016-11-16 100616274 ENSG00000263642 uc021xns.1 NR_039966 MI0017450 HGNC:41658 +HGNC:41568 MIR4803 microRNA 4803 non-coding RNA RNA, micro Approved 5q13.2 05q13.2 hsa-mir-4803 MicroRNAs 476 2011-05-02 2016-11-16 100616377 ENSG00000264099 uc021yak.1 NR_039967 MI0017451 HGNC:41568 +HGNC:41720 MIR4804 microRNA 4804 non-coding RNA RNA, micro Approved 5q13.2 05q13.2 hsa-mir-4804 MicroRNAs 476 2011-05-02 2016-11-16 100616152 ENSG00000263593 uc021yal.1 NR_039968 MI0017452 HGNC:41720 +HGNC:43494 MIR4999 microRNA 4999 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-4999 MicroRNAs 476 2011-11-14 2016-11-16 100847049 ENSG00000265390 uc021uoc.2 NR_049795 MI0017865 HGNC:43494 +HGNC:43464 MIR5000 microRNA 5000 non-coding RNA RNA, micro Approved 2p12 02p12 hsa-mir-5000 MicroRNAs 476 2011-11-14 2016-11-16 100846995 ENSG00000263909 uc031rok.1 NR_049796 MI0017866 HGNC:43464 +HGNC:43462 MIR5001 microRNA 5001 non-coding RNA RNA, micro Approved 2q37.1 02q37.1 hsa-mir-5001 MicroRNAs 476 2011-11-14 2016-11-16 100847037 ENSG00000284407 uc061tpl.1 NR_049797 MI0017867 HGNC:43462 +HGNC:43470 MIR5002 microRNA 5002 non-coding RNA RNA, micro Approved 3q21.2 03q21.2 hsa-mir-5002 MicroRNAs 476 2011-11-14 2016-11-16 100847021 ENSG00000266383 uc031sbn.1 NR_049798 MI0017868 HGNC:43470 +HGNC:43512 MIR5003 microRNA 5003 non-coding RNA RNA, micro Approved 5q35.1 05q35.1 hsa-mir-5003 MicroRNAs 476 2011-11-14 2016-11-16 100847029 ENSG00000265160 uc032vtl.1 NR_049799 MI0017869 HGNC:43512 +HGNC:43532 MIR5004 microRNA 5004 non-coding RNA RNA, micro Approved 6p21.32 06p21.32 hsa-mir-5004 MicroRNAs 476 2011-11-14 2016-11-16 100847012 ENSG00000284256 uc031snz.1 NR_049800 MI0017870 HGNC:43532 +HGNC:43495 MIR5006 microRNA 5006 non-coding RNA RNA, micro Approved 13q14.11 13q14.11 hsa-mir-5006 MicroRNAs 476 2011-11-14 2016-11-16 100847026 ENSG00000284584 uc031qli.1 NR_049803 MI0017873 HGNC:43495 +HGNC:43468 MIR5007 microRNA 5007 non-coding RNA RNA, micro Approved 13q21.1 13q21.1 hsa-mir-5007 MicroRNAs 476 2011-11-14 2016-11-16 100846996 ENSG00000264387 uc031qlv.1 NR_049804 MI0017874 HGNC:43468 +HGNC:43546 MIR5008 microRNA 5008 non-coding RNA RNA, micro Approved 1q42.13 01q42.13 hsa-mir-5008 MicroRNAs 476 2011-11-14 2016-11-16 100847072 ENSG00000264483 uc031psm.1 NR_049806 MI0017876 HGNC:43546 +HGNC:43458 MIR5009 microRNA 5009 non-coding RNA RNA, micro Approved 15q26.1 15q26.1 hsa-mir-5009 MicroRNAs 476 2011-11-14 2016-11-16 100846993 ENSG00000264796 uc032coz.1 NR_049807 MI0017877 HGNC:43458 +HGNC:43484 MIR5010 microRNA 5010 non-coding RNA RNA, micro Approved 17q21.2 17q21.2 hsa-mir-5010 MicroRNAs 476 2011-11-14 2016-11-16 100847046 ENSG00000283929 uc031rak.1 NR_049808 MI0017878 HGNC:43484 +HGNC:43496 MIR5011 microRNA 5011 non-coding RNA RNA, micro Approved 18q22.1 18q22.1 hsa-mir-5011 MicroRNAs 476 2011-11-14 2016-11-16 100847002 ENSG00000263354 uc031riq.1 NR_049809 MI0017879 HGNC:43496 +HGNC:41834 MIR5047 microRNA 5047 non-coding RNA RNA, micro Approved 17q23.3 17q23.3 hsa-mir-5047 MicroRNAs 476 2011-05-02 2016-11-16 100616408 ENSG00000284368 uc021ubs.1 NR_039969 MI0017932 HGNC:41834 +HGNC:43480 MIR5087 microRNA 5087 non-coding RNA RNA, micro Approved 1q21.2 01q21.2 hsa-mir-5087 MicroRNAs 476 2011-11-14 2016-11-16 100847044 ENSG00000283676 NR_049810 MI0017976 HGNC:43480 +HGNC:43489 MIR5088 microRNA 5088 non-coding RNA RNA, micro Approved 19q13.33 19q13.33 hsa-mir-5088 MicroRNAs 476 2011-11-14 2016-11-16 100847074 ENSG00000274306 uc031rme.2 NR_049811 MI0017977 HGNC:43489 +HGNC:43536 MIR5089 microRNA 5089 non-coding RNA RNA, micro Approved 17q21.32 17q21.32 hsa-mir-5089 MicroRNAs 476 2011-11-14 2016-11-16 100847067 ENSG00000264999 uc031rcy.1 NR_049812 MI0017978 HGNC:43536 +HGNC:43547 MIR5090 microRNA 5090 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-5090 MicroRNAs 476 2011-11-14 2016-11-16 100847073 ENSG00000284176 uc031sys.1 NR_049813 MI0017979 HGNC:43547 +HGNC:43478 MIR5091 microRNA 5091 non-coding RNA RNA, micro Approved 4p15.33 04p15.33 hsa-mir-5091 MicroRNAs 476 2011-11-14 2016-11-16 100847023 ENSG00000266240 uc031sdt.1 NR_049814 MI0017980 HGNC:43478 +HGNC:43467 MIR5092 microRNA 5092 non-coding RNA RNA, micro Approved 3q21.2 03q21.2 hsa-mir-5092 MicroRNAs 476 2011-11-14 2016-11-16 100847039 ENSG00000264986 uc031sbo.1 NR_049815 MI0017981 HGNC:43467 +HGNC:43474 MIR5093 microRNA 5093 non-coding RNA RNA, micro Approved 16q24.1 16q24.1 hsa-mir-5093 MicroRNAs 476 2011-11-14 2016-11-16 100847022 ENSG00000266307 uc031qxb.1 NR_049816 MI0017982 HGNC:43474 +HGNC:43519 MIR5094 microRNA 5094 non-coding RNA RNA, micro Approved 15q26.1 15q26.1 hsa-mir-5094 MicroRNAs 476 2011-11-14 2016-11-16 100847059 ENSG00000264966 uc031qto.1 NR_049817 MI0017983 HGNC:43519 +HGNC:43540 MIR5100 microRNA 5100 non-coding RNA RNA, micro Approved 10q11.21 10q11.21 hsa-mir-5100 MicroRNAs 476 2011-11-14 2016-11-16 100847014 ENSG00000263795 uc031pup.1 NR_049836 MI0019116 HGNC:43540 +HGNC:43459 MIR5186 microRNA 5186 non-coding RNA RNA, micro Approved 3q25.1 03q25.1 hsa-mir-5186 MicroRNAs 476 2011-11-14 2016-11-16 100847036 ENSG00000264330 uc031sby.1 NR_049818 MI0018165 HGNC:43459 +HGNC:43523 MIR5187 microRNA 5187 non-coding RNA RNA, micro Approved 1q23.3 01q23.3 hsa-mir-5187 MicroRNAs 476 2011-11-14 2016-11-16 100847090 ENSG00000284035 uc031pqw.1 NR_049819 MI0018166 HGNC:43523 +HGNC:43502 MIR5188 microRNA 5188 non-coding RNA RNA, micro Approved 12q24.31 12q24.31 hsa-mir-5188 MicroRNAs 476 2011-11-14 2016-11-16 100847004 ENSG00000265345 uc031qkf.1 NR_049820 MI0018167 HGNC:43502 +HGNC:43515 MIR5189 microRNA 5189 non-coding RNA RNA, micro Approved 16q24.2 16q24.2 hsa-mir-5189 MicroRNAs 476 2011-11-14 2016-11-16 100847057 ENSG00000263456 uc031qxh.1 NR_049821 MI0018168 HGNC:43515 +HGNC:43549 MIR5190 microRNA 5190 non-coding RNA RNA, micro Approved 18p11.21 18p11.21 hsa-mir-5190 MicroRNAs 476 2011-11-14 2016-11-16 100847080 ENSG00000266146 uc031rho.1 NR_049822 MI0018169 HGNC:43549 +HGNC:43497 MIR5191 microRNA 5191 non-coding RNA RNA, micro Approved 1q32.1 01q32.1 hsa-mir-5191 MicroRNAs 476 2011-11-14 2016-11-16 100847050 ENSG00000264802 uc031prn.1 NR_049823 MI0018170 HGNC:43497 +HGNC:43473 MIR5192 microRNA 5192 non-coding RNA RNA, micro Approved 2p15 02p15 hsa-mir-5192 MicroRNAs 476 2011-11-14 2016-11-16 100847087 ENSG00000266097 uc031rod.1 NR_049824 MI0018171 HGNC:43473 +HGNC:43534 MIR5193 microRNA 5193 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-5193 MicroRNAs 476 2011-11-14 2016-11-16 100847079 ENSG00000283726 uc031rzu.1 NR_049825 MI0018172 HGNC:43534 +HGNC:43498 MIR5194 microRNA 5194 non-coding RNA RNA, micro Approved 8q24.21 08q24.21 hsa-mir-5194 MicroRNAs 476 2011-11-14 2016-11-16 100847051 ENSG00000264653 uc031tcj.1 NR_049826 MI0018173 HGNC:43498 +HGNC:43526 MIR5195 microRNA 5195 non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-5195 MicroRNAs 476 2011-11-14 2016-11-16 100847062 ENSG00000265929 uc059ghl.1 NR_049827 MI0018174 HGNC:43526 +HGNC:43542 MIR5196 microRNA 5196 non-coding RNA RNA, micro Approved 19q13.12 19q13.12 hsa-mir-5196 MicroRNAs 476 2011-11-14 2016-11-16 100847070 ENSG00000284034 uc031rkh.1 NR_049828 MI0018175 HGNC:43542 +HGNC:43450 MIR5197 microRNA 5197 non-coding RNA RNA, micro Approved 5q31.3 05q31.3 hsa-mir-5197 MicroRNAs 476 2011-11-14 2016-11-16 100846991 ENSG00000266478 uc031slq.1 NR_049829 MI0018176 HGNC:43450 +HGNC:43513 MIR5571 microRNA 5571 non-coding RNA RNA, micro Approved 22q11.22 22q11.22 hsa-mir-5571 MicroRNAs 476 2011-11-14 2016-11-16 100847006 ENSG00000264824 uc062cdv.1 NR_049835 MI0019115 HGNC:43513 +HGNC:43476 MIR5572 microRNA 5572 non-coding RNA RNA, micro Approved 15q25.1 15q25.1 hsa-mir-5572 MicroRNAs 476 2011-11-14 2016-11-16 100847042 ENSG00000284059 uc032clc.1 NR_049837 MI0019117 HGNC:43476 +HGNC:43485 MIR5579 microRNA 5579 non-coding RNA RNA, micro Approved 11q14.1 11q14.1 hsa-mir-5579 MicroRNAs 476 2011-11-14 2016-11-16 100847000 ENSG00000266570 uc031qcz.1 NR_049841 MI0019133 HGNC:43485 +HGNC:43482 MIR5580 microRNA 5580 non-coding RNA RNA, micro Approved 14q22.2 14q22.2 hsa-mir-5580 MicroRNAs 476 2011-11-14 2016-11-16 100847076 ENSG00000266431 uc031qop.1 NR_049843 MI0019135 HGNC:43482 +HGNC:43527 MIR5581 microRNA 5581 non-coding RNA RNA, micro Approved 1p34.3 01p34.3 hsa-mir-5581 MicroRNAs 476 2011-11-14 2016-11-16 100847010 ENSG00000263675 uc031pma.1 NR_049844 MI0019136 HGNC:43527 +HGNC:43461 MIR5582 microRNA 5582 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-5582 MicroRNAs 476 2011-11-14 2016-11-16 100847020 ENSG00000263540 uc031qay.1 NR_049846 MI0019138 HGNC:43461 +HGNC:43491 MIR5583-1 microRNA 5583-1 non-coding RNA RNA, micro Approved 18q12.3 18q12.3 hsa-mir-5583-1 MicroRNAs 476 2011-11-14 2016-11-16 100847025 ENSG00000266148 NR_049847 MI0019139 HGNC:43491 +HGNC:43471 MIR5583-2 microRNA 5583-2 non-coding RNA RNA, micro Approved 18q12.3 18q12.3 hsa-mir-5583-2 MicroRNAs 476 2011-11-14 2016-11-16 100846997 ENSG00000283645 uc031rib.1 NR_049848 MI0019140 HGNC:43471 +HGNC:43507 MIR5584 microRNA 5584 non-coding RNA RNA, micro Approved 1p34.1 01p34.1 hsa-mir-5584 MicroRNAs 476 2011-11-14 2014-11-14 100847089 ENSG00000263381 uc031pmh.1 NR_049849 MI0019141 HGNC:43507 +HGNC:43452 MIR5585 microRNA 5585 non-coding RNA RNA, micro Approved 1p35.2 01p35.2 hsa-mir-5585 MicroRNAs 476 2011-11-14 2014-11-14 100847018 ENSG00000266203 uc031twd.1 NR_049850 MI0019142 HGNC:43452 +HGNC:43493 MIR5586 microRNA 5586 non-coding RNA RNA, micro Approved 14q23.1 14q23.1 hsa-mir-5586 MicroRNAs 476 2011-11-14 2016-11-16 100847088 ENSG00000263629 uc032bdg.1 NR_049851 MI0019143 HGNC:43493 +HGNC:43508 MIR5587 microRNA 5587 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-5587 MicroRNAs 476 2011-11-14 2016-11-16 100847028 ENSG00000266124 uc031qun.1 NR_049852 MI0019144 HGNC:43508 +HGNC:43505 MIR5588 microRNA 5588 non-coding RNA RNA, micro Approved 3q27.2 03q27.2 hsa-mir-5588 MicroRNAs 476 2011-11-14 2016-11-16 100847054 ENSG00000264614 uc032smm.1 NR_106712 MI0019147 HGNC:43505 +HGNC:43514 MIR5589 microRNA 5589 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-5589 MicroRNAs 476 2011-11-14 2016-11-16 100847093 ENSG00000266204 uc032hmm.1 NR_049855 MI0019148 HGNC:43514 +HGNC:43541 MIR5590 microRNA 5590 non-coding RNA RNA, micro Approved 2q21.3 02q21.3 hsa-mir-5590 MicroRNAs 476 2011-11-14 2016-11-16 100847069 ENSG00000263783 uc032ocw.1 NR_049856 MI0019150 HGNC:43541 +HGNC:43531 MIR5591 microRNA 5591 non-coding RNA RNA, micro Approved 4p14 04p14 hsa-mir-5591 MicroRNAs 476 2011-11-14 2016-11-16 100847065 ENSG00000264621 uc032tge.1 NR_049857 MI0019151 HGNC:43531 +HGNC:43492 MIR5680 microRNA 5680 non-coding RNA RNA, micro Approved 8q22.3 08q22.3 hsa-mir-5680 MicroRNAs 476 2011-11-14 2016-11-16 100847001 ENSG00000266756 uc031tbw.1 NR_049859 MI0019280 HGNC:43492 +HGNC:43518 MIR5681A microRNA 5681a non-coding RNA RNA, micro Approved 8q21.11 08q21.11 hsa-mir-5681a MicroRNAs 476 2011-11-14 2016-11-16 100847058 ENSG00000266502 uc031tbl.1 NR_049860 MI0019281 HGNC:43518 +HGNC:43538 MIR5681B microRNA 5681b non-coding RNA RNA, micro Approved 8q21.11 08q21.11 hsa-mir-5681b MicroRNAs 476 2011-11-14 2016-11-16 100847091 ENSG00000283505 NR_049871 MI0019293 HGNC:43538 +HGNC:43477 MIR5682 microRNA 5682 non-coding RNA RNA, micro Approved 3q13.33 03q13.33 hsa-mir-5682 MicroRNAs 476 2011-11-14 2016-11-16 100847043 ENSG00000264477 uc032ryw.1 NR_049861 MI0019282 HGNC:43477 +HGNC:43453 MIR5683 microRNA 5683 non-coding RNA RNA, micro Approved 6p25.1 06p25.1 hsa-mir-5683 MicroRNAs 476 2011-11-14 2016-11-16 100847034 ENSG00000283616 NR_049863 MI0019284 HGNC:43453 +HGNC:43544 MIR5684 microRNA 5684 non-coding RNA RNA, micro Approved 19p13.13 19p13.13 hsa-mir-5684 MicroRNAs 476 2011-11-14 2016-11-16 100847071 ENSG00000263800 uc032hni.1 NR_049864 MI0019285 HGNC:43544 +HGNC:43543 MIR5685 microRNA 5685 non-coding RNA RNA, micro Approved 6p12.1 06p12.1 hsa-mir-5685 MicroRNAs 476 2011-11-14 2016-11-16 100847075 ENSG00000264056 uc031sow.1 NR_049866 MI0019287 HGNC:43543 +HGNC:43457 MIR5687 microRNA 5687 non-coding RNA RNA, micro Approved 5q11.2 05q11.2 hsa-mir-5687 MicroRNAs 476 2011-11-14 2016-11-16 100847019 ENSG00000265135 uc031sjj.1 NR_049869 MI0019291 HGNC:43457 +HGNC:43463 MIR5688 microRNA 5688 non-coding RNA RNA, micro Approved 3p12.1 03p12.1 hsa-mir-5688 MicroRNAs 476 2011-11-14 2016-11-16 100847077 ENSG00000264084 uc031sap.1 NR_049870 MI0019292 HGNC:43463 +HGNC:43479 MIR5689 microRNA 5689 non-coding RNA RNA, micro Approved 6p24.3 06p24.3 hsa-mir-5689 MicroRNAs 476 2011-11-14 2016-11-16 100846998 ENSG00000263705 uc031smr.1 NR_049872 MI0019294 HGNC:43479 +HGNC:52007 MIR5689HG MIR5689 host gene non-coding RNA RNA, long non-coding Approved 6p24.3 06p24.3 MicroRNA non-coding host genes 1688 2015-10-15 2015-10-15 106660610 ENSG00000229401 OTTHUMG00000014234 NR_132993 MIR5689HG HGNC:52007 +HGNC:43490 MIR5690 microRNA 5690 non-coding RNA RNA, micro Approved 6p21.31 06p21.31 hsa-mir-5690 MicroRNAs 476 2011-11-14 2016-11-16 100847048 ENSG00000265527 uc031son.1 NR_049873 MI0019295 HGNC:43490 +HGNC:43545 MIR5691 microRNA 5691 non-coding RNA RNA, micro Approved 11p15.4 11p15.4 hsa-mir-5691 MicroRNAs 476 2011-11-14 2016-11-16 100847015 ENSG00000264984 uc031pyz.1 NR_049874 MI0019296 HGNC:43545 +HGNC:43533 MIR5692A1 microRNA 5692a-1 non-coding RNA RNA, micro Approved 7q21.3 07q21.3 hsa-mir-5692a-1 MicroRNAs 476 2011-11-14 2016-11-16 100847066 ENSG00000266318 uc032zyn.1 NR_049875 MI0019297 HGNC:43533 +HGNC:43466 MIR5692A2 microRNA 5692a-2 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-5692a-2 MicroRNAs 476 2011-11-14 2016-11-16 100847038 ENSG00000264512 uc033bcx.1 NR_049876 MI0019298 HGNC:43466 +HGNC:43535 MIR5692B microRNA 5692b non-coding RNA RNA, micro Approved 21q22.3 21q22.3 hsa-mir-5692b MicroRNAs 476 2011-11-14 2016-11-16 100847013 ENSG00000264580 uc032qah.1 NR_049889 MI0019311 HGNC:43535 +HGNC:43506 MIR5692C1 microRNA 5692c-1 non-coding RNA RNA, micro Approved 5q31.1 05q31.1 hsa-mir-5692c-1 MicroRNAs 476 2011-11-14 2016-11-16 100847082 ENSG00000265924 uc032vlu.1 NR_049867 MI0019288 HGNC:43506 +HGNC:43448 MIR5692C2 microRNA 5692c-2 non-coding RNA RNA, micro Approved 7q21.3 07q21.3 hsa-mir-5692c-2 MicroRNAs 476 2011-11-14 2016-11-16 100847017 ENSG00000266668 uc032zyo.1 NR_049868 MI0019289 HGNC:43448 +HGNC:43499 MIR5693 microRNA 5693 non-coding RNA RNA, micro Approved 13q14.3 13q14.3 hsa-mir-5693 MicroRNAs 476 2011-11-14 2016-11-16 100847003 ENSG00000266072 uc031qls.1 NR_049878 MI0019300 HGNC:43499 +HGNC:43530 MIR5694 microRNA 5694 non-coding RNA RNA, micro Approved 14q24.1 14q24.1 hsa-mir-5694 MicroRNAs 476 2011-11-14 2016-11-16 100847064 ENSG00000265993 uc032bez.1 NR_049879 MI0019301 HGNC:43530 +HGNC:43548 MIR5695 microRNA 5695 non-coding RNA RNA, micro Approved 19p13.13 19p13.13 hsa-mir-5695 MicroRNAs 476 2011-11-14 2016-11-16 100847016 ENSG00000266721 uc032hnk.1 NR_049880 MI0019302 HGNC:43548 +HGNC:43516 MIR5696 microRNA 5696 non-coding RNA RNA, micro Approved 2q11.2 02q11.2 hsa-mir-5696 MicroRNAs 476 2011-11-14 2016-11-16 100847007 ENSG00000264857 uc031roo.1 NR_049881 MI0019303 HGNC:43516 +HGNC:43509 MIR5697 microRNA 5697 non-coding RNA RNA, micro Approved 1p36.22 01p36.22 hsa-mir-5697 MicroRNAs 476 2011-11-14 2014-11-14 100847055 ENSG00000265521 uc031toc.1 NR_049882 MI0019304 HGNC:43509 +HGNC:43487 MIR5698 microRNA 5698 non-coding RNA RNA, micro Approved 1q21.3 01q21.3 hsa-mir-5698 MicroRNAs 476 2011-11-14 2014-11-14 100847024 ENSG00000263987 uc031uzx.1 NR_049883 MI0019305 HGNC:43487 +HGNC:43456 MIR5699 microRNA 5699 non-coding RNA RNA, micro Approved 10p15.3 10p15.3 hsa-mir-5699 MicroRNAs 476 2011-11-14 2016-11-16 100847086 ENSG00000263511 uc010qaa.2 NR_049884 MI0019306 HGNC:43456 +HGNC:43521 MIR5700 microRNA 5700 non-coding RNA RNA, micro Approved 12q22 12q22 hsa-mir-5700 MicroRNAs 476 2011-11-14 2016-11-16 100847031 ENSG00000266099 uc031qjd.1 NR_049885 MI0019307 HGNC:43521 +HGNC:43522 MIR5701-1 microRNA 5701-1 non-coding RNA RNA, micro Approved 15q11.2 15q11.2 hsa-mir-5701-1 MicroRNAs 476 2011-11-14 2016-11-16 100847060 ENSG00000266545 uc032buc.1 NR_049886 MI0019308 HGNC:43522 +HGNC:43510 MIR5701-2 microRNA 5701-2 non-coding RNA RNA, micro Approved 15q11.2 15q11.2 hsa-mir-5701-2 MicroRNAs 476 2011-11-14 2016-11-16 100847005 ENSG00000277841 uc032dbc.1 NR_049895 MI0019593 HGNC:43510 +HGNC:50844 MIR5701-3 microRNA 5701-3 non-coding RNA RNA, micro Approved 15q11.2 15q11.2 MicroRNAs 476 2014-06-26 2016-11-16 103504741 ENSG00000264902 NR_128721 MI0031522 HGNC:50844 +HGNC:43503 MIR5702 microRNA 5702 non-coding RNA RNA, micro Approved 2q36.3 02q36.3 hsa-mir-5702 MicroRNAs 476 2011-11-14 2016-11-16 100847053 ENSG00000263363 uc031rrm.1 NR_049887 MI0019309 HGNC:43503 +HGNC:43475 MIR5703 microRNA 5703 non-coding RNA RNA, micro Approved 2q36.3 02q36.3 hsa-mir-5703 MicroRNAs 476 2011-11-14 2016-11-16 100847081 ENSG00000284092 uc031rrr.1 NR_049888 MI0019310 HGNC:43475 +HGNC:43469 MIR5704 microRNA 5704 non-coding RNA RNA, micro Approved 3q22.1 03q22.1 hsa-mir-5704 MicroRNAs 476 2011-11-14 2016-11-16 100847040 ENSG00000265859 uc031sbt.1 NR_049890 MI0019312 HGNC:43469 +HGNC:43504 MIR5705 microRNA 5705 non-coding RNA RNA, micro Approved 4q22.1 04q22.1 hsa-mir-5705 MicroRNAs 476 2011-11-14 2016-11-16 100847027 ENSG00000263981 uc031sfz.1 NR_049891 MI0019313 HGNC:43504 +HGNC:43500 MIR5706 microRNA 5706 non-coding RNA RNA, micro Approved 5q23.1 05q23.1 hsa-mir-5706 MicroRNAs 476 2011-11-14 2016-11-16 100847085 ENSG00000264536 uc032vil.1 NR_049892 MI0019314 HGNC:43500 +HGNC:43449 MIR5707 microRNA 5707 non-coding RNA RNA, micro Approved 7q36.3 07q36.3 hsa-mir-5707 MicroRNAs 476 2011-11-14 2016-11-16 100847032 ENSG00000265598 uc031szv.1 NR_049893 MI0019315 HGNC:43449 +HGNC:43511 MIR5708 microRNA 5708 non-coding RNA RNA, micro Approved 8q21.13 08q21.13 hsa-mir-5708 MicroRNA MIR1972 family 1865 2011-11-14 2016-11-16 100847056 ENSG00000265588 uc031tbo.1 NR_049894 MI0019316 HGNC:43511 +HGNC:49977 MIR5739 microRNA 5739 non-coding RNA RNA, micro Approved 22q12.1 22q12.1 hsa-mir-5739 MicroRNAs 476 2014-03-24 2016-11-16 102466081 ENSG00000276162 NR_106713 MI0019412 HGNC:49977 +HGNC:49930 MIR5787 microRNA 5787 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-5787 MicroRNAs 476 2014-03-24 2016-11-16 102464817 ENSG00000275334 NR_106714 MI0019797 HGNC:49930 +HGNC:50261 MIR6068 microRNA 6068 non-coding RNA RNA, micro Approved 1p31.3 01p31.3 hsa-mir-6068 MicroRNAs 476 2014-03-24 2014-11-19 102464823 ENSG00000275836 NR_106716 MI0020345 HGNC:50261 +HGNC:50124 MIR6069 microRNA 6069 non-coding RNA RNA, micro Approved 22q12.3 22q12.3 hsa-mir-6069 MicroRNAs 476 2014-03-24 2016-11-16 102464824 ENSG00000274280 NR_106717 MI0020346 HGNC:50124 +HGNC:49950 MIR6070 microRNA 6070 non-coding RNA RNA, micro Approved 21q22.3 21q22.3 hsa-mir-6070 MicroRNAs 476 2014-03-24 2016-11-16 102464825 ENSG00000278433 NR_106718 MI0020347 HGNC:49950 +HGNC:50229 MIR6071 microRNA 6071 non-coding RNA RNA, micro Approved 2p11.2 02p11.2 hsa-mir-6071 MicroRNAs 476 2014-03-24 2016-11-16 102466516 ENSG00000278783 NR_106719 MI0020348 HGNC:50229 +HGNC:50144 MIR6072 microRNA 6072 non-coding RNA RNA, micro Approved 10p15.3 10p15.3 hsa-mir-6072 MicroRNAs 476 2014-03-24 2016-11-16 102465944 ENSG00000278069 NR_106720 MI0020349 HGNC:50144 +HGNC:50128 MIR6073 microRNA 6073 non-coding RNA RNA, micro Approved 11p15.2 11p15.2 hsa-mir-6073 MicroRNAs 476 2014-03-24 2016-11-16 102464826 ENSG00000284094 NR_106721 MI0020350 HGNC:50128 +HGNC:50060 MIR6074 microRNA 6074 non-coding RNA RNA, micro Approved 12q14.3 12q14.3 hsa-mir-6074 MicroRNAs 476 2014-03-24 2016-11-16 102464827 ENSG00000276878 NR_106722 MI0020351 HGNC:50060 +HGNC:50198 MIR6075 microRNA 6075 non-coding RNA RNA, micro Approved 5p15.33 05p15.33 hsa-mir-6075 MicroRNAs 476 2014-03-24 2016-11-16 102466103 ENSG00000273742 NR_106723 MI0020352 HGNC:50198 +HGNC:50232 MIR6076 microRNA 6076 non-coding RNA RNA, micro Approved 14q21.3 14q21.3 hsa-mir-6076 MicroRNAs 476 2014-03-24 2016-11-16 102464828 ENSG00000278038 NR_106724 MI0020353 HGNC:50232 +HGNC:50025 MIR6077 microRNA 6077 non-coding RNA RNA, micro Approved 1q21.2 01q21.2 "hsa-mir-6077-1|hsa-mir-6077-2" "MIR6077-2|MIR6077-1" "microRNA 6077-2|microRNA 6077-1" MicroRNAs 476 2014-03-24 2014-04-29 2014-04-29 2020-04-20 102466225 ENSG00000278596 NR_106967 MI0020354 HGNC:50025 +HGNC:50136 MIR6078 microRNA 6078 non-coding RNA RNA, micro Approved 10p15.1 10p15.1 hsa-mir-6078 MicroRNAs 476 2014-03-24 2016-11-16 102464829 ENSG00000274809 NR_106726 MI0020355 HGNC:50136 +HGNC:50114 MIR6079 microRNA 6079 non-coding RNA RNA, micro Approved 1p34.1 01p34.1 hsa-mir-6079 MicroRNAs 476 2014-03-24 2014-11-19 102464830 ENSG00000283477 NR_106727 MI0020356 HGNC:50114 +HGNC:50142 MIR6080 microRNA 6080 non-coding RNA RNA, micro Approved 17q24.1 17q24.1 hsa-mir-6080 MicroRNAs 476 2014-03-24 2016-11-16 102464831 ENSG00000278581 NR_106728 MI0020357 HGNC:50142 +HGNC:50151 MIR6081 microRNA 6081 non-coding RNA RNA, micro Approved 9q22.32 09q22.32 hsa-mir-6081 MicroRNAs 476 2014-03-24 2016-11-16 102466518 ENSG00000274115 NR_106729 MI0020358 HGNC:50151 +HGNC:49984 MIR6082 microRNA 6082 non-coding RNA RNA, micro Approved 4q34.1 04q34.1 hsa-mir-6082 MicroRNAs 476 2014-03-24 2016-11-16 102466953 ENSG00000278502 NR_106730 MI0020359 HGNC:49984 +HGNC:50076 MIR6083 microRNA 6083 non-coding RNA RNA, micro Approved 3q21.2 03q21.2 hsa-mir-6083 MicroRNAs 476 2014-03-24 2016-11-16 102464832 ENSG00000276656 NR_106731 MI0020360 HGNC:50076 +HGNC:50235 MIR6084 microRNA 6084 non-coding RNA RNA, micro Approved 1p36.12 01p36.12 hsa-mir-6084 MicroRNAs 476 2014-03-24 2018-08-17 102464833 ENSG00000284005 NR_106732 MI0020361 HGNC:50235 +HGNC:50002 MIR6085 microRNA 6085 non-coding RNA RNA, micro Approved 15q22.2 15q22.2 hsa-mir-6085 MicroRNAs 476 2014-03-24 2016-11-16 102464834 ENSG00000275451 NR_106733 MI0020362 HGNC:50002 +HGNC:49986 MIR6086 microRNA 6086 non-coding RNA RNA, micro Approved Xp22.2 Xp22.2 hsa-mir-6086 MicroRNAs 476 2014-03-24 2016-11-16 102466519 ENSG00000283493 NR_106734 MI0020363 HGNC:49986 +HGNC:50164 MIR6088 microRNA 6088 non-coding RNA RNA, micro Approved 19q13.32 19q13.32 hsa-mir-6088 MicroRNAs 476 2014-03-24 2016-11-16 102464836 ENSG00000275726 NR_106736 MI0020365 HGNC:50164 +HGNC:50179 MIR6089 microRNA 6089 non-coding RNA RNA, micro Approved Xp22.3 and Yp11.3 Xp22.3 and Yp11.3 hsa-mir-6089-1 "MIR6089-1|MIR6089-2" "microRNA 6089-1|microRNA 6089-2" "MicroRNAs|Pseudoautosomal region 1" "476|715" 2014-03-24 2014-06-26 2014-06-26 2014-11-18 102464837 ENSG00000277120 NR_106737 MI0020366 HGNC:50179 +HGNC:50204 MIR6090 microRNA 6090 non-coding RNA RNA, micro Approved 11q24.3 11q24.3 hsa-mir-6090 MicroRNAs 476 2014-03-24 2016-11-16 102466104 ENSG00000276176 NR_106738 MI0020367 HGNC:50204 +HGNC:50200 MIR6124 microRNA 6124 non-coding RNA RNA, micro Approved 11p15.3 11p15.3 hsa-mir-6124 MicroRNAs 476 2014-03-24 2016-11-16 102466906 ENSG00000275373 NR_106739 MI0021258 HGNC:50200 +HGNC:49931 MIR6125 microRNA 6125 non-coding RNA RNA, micro Approved 12q14.1 12q14.1 hsa-mir-6125 MicroRNAs 476 2014-03-24 2016-11-16 102465133 ENSG00000284360 NR_106740 MI0021259 HGNC:49931 +HGNC:50099 MIR6126 microRNA 6126 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-6126 MicroRNAs 476 2014-03-24 2016-11-16 102465134 ENSG00000273776 NR_106741 MI0021260 HGNC:50099 +HGNC:50163 MIR6127 microRNA 6127 non-coding RNA RNA, micro Approved 1p36.12 01p36.12 hsa-mir-6127 MicroRNAs 476 2014-03-24 2016-11-16 102466615 ENSG00000276835 NR_106742 MI0021271 HGNC:50163 +HGNC:50109 MIR6128 microRNA 6128 non-coding RNA RNA, micro Approved 11q12.1 11q12.1 hsa-mir-6128 MicroRNAs 476 2014-03-24 2016-11-16 102465135 ENSG00000274770 NR_106743 MI0021272 HGNC:50109 +HGNC:50220 MIR6129 microRNA 6129 non-coding RNA RNA, micro Approved 17q21.32 17q21.32 hsa-mir-6129 MicroRNAs 476 2014-03-24 2016-11-16 102465137 ENSG00000273500 NR_106745 MI0021274 HGNC:50220 +HGNC:50156 MIR6130 microRNA 6130 non-coding RNA RNA, micro Approved 21q21.2 21q21.2 hsa-mir-6130 MicroRNAs 476 2014-03-24 2016-11-16 102466967 ENSG00000275469 NR_106746 MI0021275 HGNC:50156 +HGNC:49929 MIR6131 microRNA 6131 non-coding RNA RNA, micro Approved 5p15.2 05p15.2 hsa-mir-6131 MicroRNAs 476 2014-03-24 2016-11-16 102465138 ENSG00000277073 NR_106747 MI0021276 HGNC:49929 +HGNC:50272 MIR6132 microRNA 6132 non-coding RNA RNA, micro Approved 7q31.2 07q31.2 hsa-mir-6132 MicroRNAs 476 2014-03-24 2016-11-16 102466616 ENSG00000283923 NR_106748 MI0021277 HGNC:50272 +HGNC:50007 MIR6133 microRNA 6133 non-coding RNA RNA, micro Approved 7q33 07q33 hsa-mir-6133 MicroRNAs 476 2014-03-24 2016-11-16 102465139 ENSG00000276137 NR_106749 MI0021278 HGNC:50007 +HGNC:49951 MIR6134 microRNA 6134 non-coding RNA RNA, micro Approved Xp21.3 Xp21.3 hsa-mir-6134 MicroRNAs 476 2014-03-24 2016-11-16 102465140 ENSG00000277569 NR_106750 MI0021279 HGNC:49951 +HGNC:50197 MIR6165 microRNA 6165 non-coding RNA RNA, micro Approved 17q21.33 17q21.33 hsa-mir-6165 MicroRNAs 476 2014-03-24 2016-11-16 102465141 ENSG00000277478 NR_106751 MI0021472 HGNC:50197 +HGNC:49962 MIR6499 microRNA 6499 non-coding RNA RNA, micro Approved 5q33.1 05q33.1 hsa-mir-6499 MicroRNAs 476 2014-03-24 2016-11-16 102465246 ENSG00000276622 NR_106752 MI0022209 HGNC:49962 +HGNC:49935 MIR6500 microRNA 6500 non-coding RNA RNA, micro Approved 1p32.3 01p32.3 hsa-mir-6500 MicroRNAs 476 2014-03-24 2016-11-16 102466656 ENSG00000275816 NR_106754 MI0022211 HGNC:49935 +HGNC:50033 MIR6501 microRNA 6501 non-coding RNA RNA, micro Approved 21q22.11 21q22.11 hsa-mir-6501 MicroRNAs 476 2014-03-24 2016-11-16 102465248 ENSG00000284448 NR_106756 MI0022213 HGNC:50033 +HGNC:50062 MIR6502 microRNA 6502 non-coding RNA RNA, micro Approved 12q14.3 12q14.3 hsa-mir-6502 MicroRNAs 476 2014-03-24 2016-11-16 102465249 ENSG00000284011 NR_106757 MI0022214 HGNC:50062 +HGNC:49968 MIR6503 microRNA 6503 non-coding RNA RNA, micro Approved 11q12.2 11q12.2 hsa-mir-6503 MicroRNAs 476 2014-03-24 2016-11-16 102465250 ENSG00000275344 NR_106758 MI0022215 HGNC:49968 +HGNC:49976 MIR6504 microRNA 6504 non-coding RNA RNA, micro Approved 16q23.3 16q23.3 hsa-mir-6504 MicroRNAs 476 2014-03-24 2016-11-16 102465251 ENSG00000275109 NR_106759 MI0022216 HGNC:49976 +HGNC:50104 MIR6505 microRNA 6505 non-coding RNA RNA, micro Approved 12q13.11 12q13.11 hsa-mir-6505 MicroRNAs 476 2014-03-24 2016-11-16 102466657 ENSG00000275770 NR_106760 MI0022217 HGNC:50104 +HGNC:50158 MIR6506 microRNA 6506 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-6506 MicroRNAs 476 2014-03-24 2016-11-16 102465252 ENSG00000284184 NR_106761 MI0022218 HGNC:50158 +HGNC:50199 MIR6507 microRNA 6507 non-coding RNA RNA, micro Approved 10q24.2 10q24.2 hsa-mir-6507 MicroRNAs 476 2014-03-24 2016-11-16 102465253 ENSG00000274056 NR_106762 MI0022219 HGNC:50199 +HGNC:50217 MIR6508 microRNA 6508 non-coding RNA RNA, micro Approved 21q22.2 21q22.2 hsa-mir-6508 MicroRNAs 476 2014-03-24 2016-11-16 102466972 ENSG00000275523 NR_106763 MI0022220 HGNC:50217 +HGNC:50207 MIR6509 microRNA 6509 non-coding RNA RNA, micro Approved 7q33 07q33 hsa-mir-6509 MicroRNAs 476 2014-03-24 2016-11-16 102465254 ENSG00000277138 NR_106764 MI0022221 HGNC:50207 +HGNC:50101 MIR6510 microRNA 6510 non-coding RNA RNA, micro Approved 17q21.2 17q21.2 hsa-mir-6510 MicroRNAs 476 2014-03-24 2016-11-16 102466658 ENSG00000283796 NR_106765 MI0022222 HGNC:50101 +HGNC:50119 MIR6511A1 microRNA 6511a-1 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-6511a-1 MicroRNAs 476 2014-03-24 2016-11-16 102466268 ENSG00000275259 NR_106766 MI0022223 HGNC:50119 +HGNC:50150 MIR6511A2 microRNA 6511a-2 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-6511a-2 MicroRNAs 476 2014-03-24 2016-11-16 102466812 ENSG00000278221 NR_106969 MI0023564 HGNC:50150 +HGNC:50265 MIR6511A3 microRNA 6511a-3 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-6511a-3 MicroRNAs 476 2014-03-24 2016-11-16 102465683 ENSG00000276311 NR_106970 MI0023565 HGNC:50265 +HGNC:50188 MIR6511A4 microRNA 6511a-4 non-coding RNA RNA, micro Approved 16p12.3 16p12.3 hsa-mir-6511a-4 MicroRNAs 476 2014-03-24 2016-11-16 102465684 ENSG00000273613 NR_106971 MI0023566 HGNC:50188 +HGNC:50228 MIR6511B1 microRNA 6511b-1 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-6511b-1 MicroRNAs 476 2014-03-24 2016-11-16 102465429 ENSG00000284008 NR_106775 MI0022552 HGNC:50228 +HGNC:50230 MIR6511B2 microRNA 6511b-2 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-6511b-2 MicroRNAs 476 2014-03-24 2016-11-16 102465985 ENSG00000283346 NR_106965 MI0023431 HGNC:50230 +HGNC:50259 MIR6512 microRNA 6512 non-coding RNA RNA, micro Approved 2q31.2 02q31.2 hsa-mir-6512 MicroRNAs 476 2014-03-24 2016-11-16 102465255 ENSG00000278418 NR_106767 MI0022224 HGNC:50259 +HGNC:50247 MIR6513 microRNA 6513 non-coding RNA RNA, micro Approved 2q35 02q35 hsa-mir-6513 MicroRNAs 476 2014-03-24 2016-11-16 102465256 ENSG00000284173 NR_106768 MI0022225 HGNC:50247 +HGNC:50147 MIR6514 microRNA 6514 non-coding RNA RNA, micro Approved 11q12.3 11q12.3 hsa-mir-6514 MicroRNAs 476 2014-03-24 2016-11-16 102465257 ENSG00000274066 NR_106769 MI0022226 HGNC:50147 +HGNC:50227 MIR6515 microRNA 6515 non-coding RNA RNA, micro Approved 19p13.13 19p13.13 hsa-mir-6515 MicroRNAs 476 2014-03-24 2016-11-16 102466659 ENSG00000274417 NR_106770 MI0022227 HGNC:50227 +HGNC:50233 MIR6516 microRNA 6516 non-coding RNA RNA, micro Approved 17q25.2 17q25.2 hsa-mir-6516 MicroRNAs 476 2014-03-24 2016-11-16 102466864 ENSG00000284250 NR_106997 MI0025513 HGNC:50233 +HGNC:54165 MIR6529 microRNA 6529 non-coding RNA RNA, micro Approved 3q13.33 03q13.33 hsa-mir-6529 MicroRNAs 476 2018-12-12 2019-02-13 113839522 NR_162125 26473382 MI0039501 HGNC:54165 +HGNC:49996 MIR6715A microRNA 6715a non-coding RNA RNA, micro Approved 10q25.2 10q25.2 hsa-mir-6715a MicroRNAs 476 2014-03-24 2019-02-13 102466189 ENSG00000276857 NR_106771 22313525 MGI:5530856 MI0022548 HGNC:49996 +HGNC:50249 MIR6715B microRNA 6715b non-coding RNA RNA, micro Approved 10q25.2 10q25.2 hsa-mir-6715b MicroRNAs 476 2014-03-24 2016-11-16 102465427 ENSG00000283688 NR_106772 MI0022549 HGNC:50249 +HGNC:50048 MIR6716 microRNA 6716 non-coding RNA RNA, micro Approved 11q23.3 11q23.3 hsa-mir-6716 MicroRNAs 476 2014-03-24 2016-11-16 102466719 ENSG00000284246 NR_106773 MI0022550 HGNC:50048 +HGNC:50000 MIR6717 microRNA 6717 non-coding RNA RNA, micro Approved 14q11.2 14q11.2 hsa-mir-6717 MicroRNAs 476 2014-03-24 2016-11-16 102465428 ENSG00000284122 NR_106774 MI0022551 HGNC:50000 +HGNC:50195 MIR6718 microRNA 6718 non-coding RNA RNA, micro Approved 18p11.31 18p11.31 hsa-mir-6718 MicroRNAs 476 2014-03-24 2016-11-16 102465430 ENSG00000275518 NR_106776 MI0022553 HGNC:50195 +HGNC:50012 MIR6719 microRNA 6719 non-coding RNA RNA, micro Approved 19q13.2 19q13.2 hsa-mir-6719 MicroRNAs 476 2014-03-24 2016-11-16 102465974 ENSG00000277759 NR_106777 MI0022554 HGNC:50012 +HGNC:50032 MIR6720 microRNA 6720 non-coding RNA RNA, micro Approved 6p25.3 06p25.3 hsa-mir-6720 MicroRNAs 476 2014-03-24 2016-11-16 102466720 ENSG00000275859 NR_106778 MI0022555 HGNC:50032 +HGNC:50049 MIR6721 microRNA 6721 non-coding RNA RNA, micro Approved 6p21.32 06p21.32 hsa-mir-6721 MicroRNAs 476 2014-03-24 2016-11-16 102466190 ENSG00000284469 NR_106779 MI0022556 HGNC:50049 +HGNC:49927 MIR6722 microRNA 6722 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-6722 MicroRNAs 476 2014-03-24 2016-11-16 102465431 ENSG00000278756 NR_106780 MI0022557 HGNC:49927 +HGNC:50837 MIR6724-1 microRNA 6724-1 non-coding RNA RNA, micro Approved 21p11.2 21p11.2 MicroRNAs 476 2014-06-26 2016-11-16 102465433 ENSG00000275950 NR_106782 MI0022559 HGNC:50837 +HGNC:50832 MIR6724-2 microRNA 6724-2 non-coding RNA RNA, micro Approved 21p11.2 21p11.2 MicroRNAs 476 2014-06-26 2016-11-16 103504727 ENSG00000274060 NR_128715 MI0031516 HGNC:50832 +HGNC:50842 MIR6724-3 microRNA 6724-3 non-coding RNA RNA, micro Approved 21p11.2 21p11.2 MicroRNAs 476 2014-06-26 2016-11-16 103504739 ENSG00000277379 NR_128716 MI0031517 HGNC:50842 +HGNC:50830 MIR6724-4 microRNA 6724-4 non-coding RNA RNA, micro Approved 21p11.2 21p11.2 MicroRNAs 476 2014-06-26 2016-11-16 103504733 ENSG00000275692 NR_128717 MI0031518 HGNC:50830 +HGNC:50009 MIR6726 microRNA 6726 non-coding RNA RNA, micro Approved 1p36.33 01p36.33 hsa-mir-6726 MicroRNAs 476 2014-03-24 2016-11-16 102465434 ENSG00000278073 NR_106784 MI0022571 HGNC:50009 +HGNC:50171 MIR6727 microRNA 6727 non-coding RNA RNA, micro Approved 1p36.33 01p36.33 hsa-mir-6727 MicroRNAs 476 2014-03-24 2016-11-16 102465435 ENSG00000283712 NR_106785 MI0022572 HGNC:50171 +HGNC:49961 MIR6728 microRNA 6728 non-coding RNA RNA, micro Approved 1p36.23 01p36.23 hsa-mir-6728 MicroRNAs 476 2014-03-24 2016-11-16 102465436 ENSG00000274258 NR_106786 MI0022573 HGNC:49961 +HGNC:50103 MIR6729 microRNA 6729 non-coding RNA RNA, micro Approved 1p36.22 01p36.22 hsa-mir-6729 MicroRNAs 476 2014-03-24 2016-11-16 102466982 ENSG00000276869 NR_106787 MI0022574 HGNC:50103 +HGNC:50222 MIR6730 microRNA 6730 non-coding RNA RNA, micro Approved 1p36.21 01p36.21 hsa-mir-6730 MicroRNAs 476 2014-03-24 2016-11-16 102466722 ENSG00000276830 NR_106788 MI0022575 HGNC:50222 +HGNC:50036 MIR6731 microRNA 6731 non-coding RNA RNA, micro Approved 1p36.11 01p36.11 hsa-mir-6731 MicroRNAs 476 2014-03-24 2016-11-16 102465437 ENSG00000278034 NR_106789 MI0022576 HGNC:50036 +HGNC:50066 MIR6732 microRNA 6732 non-coding RNA RNA, micro Approved 1p34.3 01p34.3 hsa-mir-6732 MicroRNAs 476 2014-03-24 2016-11-16 102465438 ENSG00000283724 NR_106790 MI0022577 HGNC:50066 +HGNC:50239 MIR6733 microRNA 6733 non-coding RNA RNA, micro Approved 1p34.2 01p34.2 hsa-mir-6733 MicroRNAs 476 2014-03-24 2016-11-16 102465439 ENSG00000284410 NR_106791 RGD:6487330 MI0022578 HGNC:50239 +HGNC:50219 MIR6734 microRNA 6734 non-coding RNA RNA, micro Approved 1p34.2 01p34.2 hsa-mir-6734 MicroRNAs 476 2014-03-24 2016-11-16 102466723 ENSG00000283836 NR_106792 MI0022579 HGNC:50219 +HGNC:50126 MIR6735 microRNA 6735 non-coding RNA RNA, micro Approved 1p34.2 01p34.2 hsa-mir-6735 MicroRNAs 476 2014-03-24 2016-11-16 102465440 ENSG00000274975 NR_106793 MI0022580 HGNC:50126 +HGNC:50072 MIR6736 microRNA 6736 non-coding RNA RNA, micro Approved 1q21.1 01q21.1 hsa-mir-6736 MicroRNAs 476 2014-03-24 2016-11-16 102466191 ENSG00000278549 NR_106794 MI0022581 HGNC:50072 +HGNC:50273 MIR6737 microRNA 6737 non-coding RNA RNA, micro Approved 1q21.3 01q21.3 hsa-mir-6737 MicroRNAs 476 2014-03-24 2016-11-16 102465441 ENSG00000276584 NR_106795 MI0022582 HGNC:50273 +HGNC:49939 MIR6738 microRNA 6738 non-coding RNA RNA, micro Approved 1q22 01q22 hsa-mir-6738 MicroRNAs 476 2014-03-24 2016-11-16 102465442 ENSG00000277817 NR_106796 MI0022583 HGNC:49939 +HGNC:50165 MIR6739 microRNA 6739 non-coding RNA RNA, micro Approved 1q32.1 01q32.1 hsa-mir-6739 MicroRNAs 476 2014-03-24 2016-11-16 102466724 ENSG00000277681 NR_106797 MI0022584 HGNC:50165 +HGNC:50082 MIR6740 microRNA 6740 non-coding RNA RNA, micro Approved 1q32.1 01q32.1 hsa-mir-6740 MicroRNAs 476 2014-03-24 2016-11-16 102465443 ENSG00000275207 NR_106798 MI0022585 HGNC:50082 +HGNC:50004 MIR6741 microRNA 6741 non-coding RNA RNA, micro Approved 1q42.12 01q42.12 hsa-mir-6741 MicroRNAs 476 2014-03-24 2016-11-16 102466270 ENSG00000284519 NR_106799 MI0022586 HGNC:50004 +HGNC:50090 MIR6742 microRNA 6742 non-coding RNA RNA, micro Approved 1q42.13 01q42.13 hsa-mir-6742 MicroRNAs 476 2014-03-24 2016-11-16 102465444 ENSG00000284311 NR_106800 MI0022587 HGNC:50090 +HGNC:50008 MIR6743 microRNA 6743 non-coding RNA RNA, micro Approved 11p15.5 11p15.5 hsa-mir-6743 MicroRNAs 476 2014-03-24 2016-11-16 102465445 ENSG00000283920 NR_106801 MI0022588 HGNC:50008 +HGNC:50051 MIR6744 microRNA 6744 non-coding RNA RNA, micro Approved 11p15.5 11p15.5 hsa-mir-6744 MicroRNAs 476 2014-03-24 2016-11-16 102466725 ENSG00000275669 NR_106802 MI0022589 HGNC:50051 +HGNC:50106 MIR6745 microRNA 6745 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-6745 MicroRNAs 476 2014-03-24 2016-11-16 102466726 ENSG00000275208 NR_106803 MI0022590 HGNC:50106 +HGNC:49925 MIR6746 microRNA 6746 non-coding RNA RNA, micro Approved 11q12.2 11q12.2 hsa-mir-6746 MicroRNAs 476 2014-03-24 2016-11-16 102465446 ENSG00000277892 NR_106804 MI0022591 HGNC:49925 +HGNC:50027 MIR6747 microRNA 6747 non-coding RNA RNA, micro Approved 11q12.3 11q12.3 hsa-mir-6747 MicroRNAs 476 2014-03-24 2016-11-16 102465447 ENSG00000276102 NR_106805 MI0022592 HGNC:50027 +HGNC:50141 MIR6748 microRNA 6748 non-coding RNA RNA, micro Approved 11q12.3 11q12.3 hsa-mir-6748 MicroRNAs 476 2014-03-24 2016-11-16 102465448 ENSG00000284535 NR_106806 MI0022593 HGNC:50141 +HGNC:50087 MIR6749 microRNA 6749 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-6749 MicroRNAs 476 2014-03-24 2016-11-16 102466727 ENSG00000274314 NR_106807 MI0022594 HGNC:50087 +HGNC:49965 MIR6750 microRNA 6750 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-6750 MicroRNAs 476 2014-03-24 2016-11-16 102466192 ENSG00000274986 NR_106808 MI0022595 HGNC:49965 +HGNC:49983 MIR6751 microRNA 6751 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-6751 MicroRNAs 476 2014-03-24 2016-11-16 102465449 ENSG00000284489 NR_106809 MI0022596 HGNC:49983 +HGNC:50020 MIR6752 microRNA 6752 non-coding RNA RNA, micro Approved 11q13.2 11q13.2 hsa-mir-6752 MicroRNAs 476 2014-03-24 2016-11-16 102465450 ENSG00000276769 NR_106810 MI0022597 HGNC:50020 +HGNC:50255 MIR6753 microRNA 6753 non-coding RNA RNA, micro Approved 11q13.2 11q13.2 hsa-mir-6753 MicroRNAs 476 2014-03-24 2016-11-16 102465451 ENSG00000275022 NR_106811 MI0022598 HGNC:50255 +HGNC:50203 MIR6754 microRNA 6754 non-coding RNA RNA, micro Approved 11q13.4 11q13.4 hsa-mir-6754 MicroRNAs 476 2014-03-24 2015-07-22 102466728 ENSG00000278349 NR_106812 MI0022599 HGNC:50203 +HGNC:50224 MIR6755 microRNA 6755 non-coding RNA RNA, micro Approved 11q14.2 11q14.2 hsa-mir-6755 MicroRNAs 476 2014-03-24 2016-11-16 102465452 ENSG00000283744 NR_106813 MI0022600 HGNC:50224 +HGNC:49974 MIR6756 microRNA 6756 non-coding RNA RNA, micro Approved 11q23.3 11q23.3 hsa-mir-6756 MicroRNAs 476 2014-03-24 2016-11-16 102465453 ENSG00000284148 NR_106814 MI0022601 HGNC:49974 +HGNC:50160 MIR6757 microRNA 6757 non-coding RNA RNA, micro Approved 12q13.13 12q13.13 hsa-mir-6757 MicroRNAs 476 2014-03-24 2016-11-16 102466193 ENSG00000278108 NR_106815 MI0022602 HGNC:50160 +HGNC:50038 MIR6758 microRNA 6758 non-coding RNA RNA, micro Approved 12q13.3 12q13.3 hsa-mir-6758 MicroRNAs 476 2014-03-24 2016-11-16 102465454 ENSG00000284152 NR_106816 MI0022603 HGNC:50038 +HGNC:50063 MIR6759 microRNA 6759 non-coding RNA RNA, micro Approved 12q14.1 12q14.1 hsa-mir-6759 MicroRNAs 476 2014-03-24 2016-11-16 102466729 ENSG00000283621 NR_106817 MI0022604 HGNC:50063 +HGNC:49955 MIR6760 microRNA 6760 non-coding RNA RNA, micro Approved 12q24.12 12q24.12 hsa-mir-6760 MicroRNAs 476 2014-03-24 2016-11-16 102465455 ENSG00000273700 NR_106818 MI0022605 HGNC:49955 +HGNC:49949 MIR6761 microRNA 6761 non-coding RNA RNA, micro Approved 12q24.12 12q24.12 hsa-mir-6761 MicroRNAs 476 2014-03-24 2016-11-16 102465456 ENSG00000274697 NR_106819 MI0022606 HGNC:49949 +HGNC:50168 MIR6762 microRNA 6762 non-coding RNA RNA, micro Approved 12q24.13 12q24.13 hsa-mir-6762 MicroRNAs 476 2014-03-24 2016-11-16 102465457 ENSG00000274822 NR_106820 MI0022607 HGNC:50168 +HGNC:50139 MIR6763 microRNA 6763 non-coding RNA RNA, micro Approved 12q24.33 12q24.33 hsa-mir-6763 MicroRNAs 476 2014-03-24 2016-11-16 102465975 ENSG00000277052 NR_106821 MI0022608 HGNC:50139 +HGNC:49994 MIR6764 microRNA 6764 non-coding RNA RNA, micro Approved 14q32.2 14q32.2 hsa-mir-6764 MicroRNAs 476 2014-03-24 2016-11-16 102466730 ENSG00000283840 NR_106822 MI0022609 HGNC:49994 +HGNC:50030 MIR6765 microRNA 6765 non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-6765 MicroRNAs 476 2014-03-24 2016-11-16 102465458 ENSG00000273778 NR_106823 MI0022610 HGNC:50030 +HGNC:49941 MIR6766 microRNA 6766 non-coding RNA RNA, micro Approved 15q26.1 15q26.1 hsa-mir-6766 MicroRNAs 476 2014-03-24 2016-11-16 102466983 ENSG00000275101 NR_106824 MI0022611 HGNC:49941 +HGNC:50133 MIR6767 microRNA 6767 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-6767 MicroRNAs 476 2014-03-24 2016-11-16 102465459 ENSG00000283180 NR_106825 MI0022612 HGNC:50133 +HGNC:50264 MIR6768 microRNA 6768 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-6768 MicroRNAs 476 2014-03-24 2016-11-16 102465460 ENSG00000274805 NR_106826 MI0022613 HGNC:50264 +HGNC:50079 MIR6769A microRNA 6769a non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-6769a MicroRNAs 476 2014-03-24 2016-10-24 102466731 ENSG00000276641 NR_106827 MI0022614 HGNC:50079 +HGNC:50016 MIR6769B microRNA 6769b non-coding RNA RNA, micro Approved 1q32.1 01q32.1 hsa-mir-6769b MicroRNAs 476 2014-03-24 2016-11-16 102466202 ENSG00000278465 NR_106919 MI0022706 HGNC:50016 +HGNC:50223 MIR6770-1 microRNA 6770-1 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-6770-1 MicroRNAs 476 2014-03-24 2016-11-16 102465461 ENSG00000278265 NR_106828 MI0022615 HGNC:50223 +HGNC:50115 MIR6770-2 microRNA 6770-2 non-coding RNA RNA, micro Approved 16p13.11 16p13.11 hsa-mir-6770-2 MicroRNAs 476 2014-03-24 2016-11-16 102465908 ENSG00000277698 NR_107060 MI0026418 HGNC:50115 +HGNC:50034 MIR6770-3 microRNA 6770-3 non-coding RNA RNA, micro Approved 16p12.3 16p12.3 hsa-mir-6770-3 MicroRNAs 476 2014-03-24 2016-11-16 102466259 ENSG00000275391 NR_107061 MI0026419 HGNC:50034 +HGNC:50212 MIR6771 microRNA 6771 non-coding RNA RNA, micro Approved 16q12.1 16q12.1 hsa-mir-6771 MicroRNAs 476 2014-03-24 2016-11-16 102465462 ENSG00000274969 NR_106829 MI0022616 HGNC:50212 +HGNC:50064 MIR6772 microRNA 6772 non-coding RNA RNA, micro Approved 16q21 16q21 hsa-mir-6772 MicroRNAs 476 2014-03-24 2016-11-16 102465463 ENSG00000274816 NR_106830 MI0022617 HGNC:50064 +HGNC:50132 MIR6773 microRNA 6773 non-coding RNA RNA, micro Approved 16q22.1 16q22.1 hsa-mir-6773 MicroRNAs 476 2014-03-24 2016-11-16 102466194 ENSG00000284259 NR_106831 MI0022618 HGNC:50132 +HGNC:50202 MIR6774 microRNA 6774 non-coding RNA RNA, micro Approved 16q24.1 16q24.1 hsa-mir-6774 MicroRNAs 476 2014-03-24 2016-11-16 102466732 ENSG00000274134 NR_106832 MI0022619 HGNC:50202 +HGNC:50100 MIR6775 microRNA 6775 non-coding RNA RNA, micro Approved 16q24.2 16q24.2 hsa-mir-6775 MicroRNAs 476 2014-03-24 2016-11-16 102465464 ENSG00000278598 NR_106833 MI0022620 HGNC:50100 +HGNC:50193 MIR6776 microRNA 6776 non-coding RNA RNA, micro Approved 17p13.3 17p13.3 hsa-mir-6776 MicroRNAs 476 2014-03-24 2016-11-16 102465465 ENSG00000273606 NR_106834 MI0022621 HGNC:50193 +HGNC:50173 MIR6777 microRNA 6777 non-coding RNA RNA, micro Approved 17p11.2 17p11.2 hsa-mir-6777 MicroRNAs 476 2014-03-24 2016-11-16 102465466 ENSG00000274111 NR_106835 MI0022622 HGNC:50173 +HGNC:50183 MIR6778 microRNA 6778 non-coding RNA RNA, micro Approved 17p11.2 17p11.2 hsa-mir-6778 MicroRNAs 476 2014-03-24 2016-11-16 102466733 ENSG00000283772 NR_106836 MI0022623 HGNC:50183 +HGNC:50148 MIR6779 microRNA 6779 non-coding RNA RNA, micro Approved 17q12 17q12 hsa-mir-6779 MicroRNAs 476 2014-03-24 2016-11-16 102465467 ENSG00000277057 NR_106837 MI0022624 HGNC:50148 +HGNC:50069 MIR6780A microRNA 6780a non-coding RNA RNA, micro Approved 17q21.2 17q21.2 hsa-mir-6780a MicroRNAs 476 2014-03-24 2016-11-16 102466195 ENSG00000275273 NR_106838 MI0022625 HGNC:50069 +HGNC:50237 MIR6780B microRNA 6780b non-coding RNA RNA, micro Approved 6p21.1 06p21.1 hsa-mir-6780b MicroRNAs 476 2014-03-24 2016-11-16 102466746 ENSG00000276770 NR_106894 MI0022681 HGNC:50237 +HGNC:50185 MIR6781 microRNA 6781 non-coding RNA RNA, micro Approved 17q21.31 17q21.31 hsa-mir-6781 MicroRNAs 476 2014-03-24 2016-11-16 102465468 ENSG00000278447 NR_106839 MI0022626 HGNC:50185 +HGNC:50270 MIR6782 microRNA 6782 non-coding RNA RNA, micro Approved 17q21.31 17q21.31 hsa-mir-6782 MicroRNAs 476 2014-03-24 2016-11-16 102465469 ENSG00000275107 NR_106840 MI0022627 HGNC:50270 +HGNC:50159 MIR6783 microRNA 6783 non-coding RNA RNA, micro Approved 17q21.31 17q21.31 hsa-mir-6783 MicroRNAs 476 2014-03-24 2016-11-16 102466734 ENSG00000278223 NR_106841 MI0022628 HGNC:50159 +HGNC:49988 MIR6784 microRNA 6784 non-coding RNA RNA, micro Approved 17q21.31 17q21.31 hsa-mir-6784 MicroRNAs 476 2014-03-24 2016-11-16 102465470 ENSG00000277249 NR_106842 MI0022629 HGNC:49988 +HGNC:50206 MIR6785 microRNA 6785 non-coding RNA RNA, micro Approved 17q25.1 17q25.1 hsa-mir-6785 MicroRNAs 476 2014-03-24 2016-11-16 102466911 ENSG00000284595 NR_106843 MI0022630 HGNC:50206 +HGNC:49970 MIR6786 microRNA 6786 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-6786 MicroRNAs 476 2014-03-24 2016-11-16 102465471 ENSG00000277784 NR_106844 MI0022631 HGNC:49970 +HGNC:50209 MIR6787 microRNA 6787 non-coding RNA RNA, micro Approved 17q25.3 17q25.3 hsa-mir-6787 MicroRNAs 476 2014-03-24 2016-11-16 102465472 ENSG00000284574 NR_106845 MI0022632 HGNC:50209 +HGNC:50078 MIR6788 microRNA 6788 non-coding RNA RNA, micro Approved 18p11.22 18p11.22 hsa-mir-6788 MicroRNAs 476 2014-03-24 2016-11-16 102466735 ENSG00000274838 NR_106846 MI0022633 HGNC:50078 +HGNC:50094 MIR6789 microRNA 6789 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-6789 MicroRNAs 476 2014-03-24 2016-11-16 102466736 ENSG00000284129 NR_106847 MI0022634 HGNC:50094 +HGNC:50161 MIR6790 microRNA 6790 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-6790 MicroRNAs 476 2014-03-24 2016-11-16 102465473 ENSG00000273758 NR_106848 MI0022635 HGNC:50161 +HGNC:50097 MIR6791 microRNA 6791 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-6791 MicroRNAs 476 2014-03-24 2016-11-16 102465474 ENSG00000283950 NR_106849 MI0022636 HGNC:50097 +HGNC:50054 MIR6792 microRNA 6792 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-6792 MicroRNAs 476 2014-03-24 2016-11-16 102465475 ENSG00000273657 NR_106850 MI0022637 HGNC:50054 +HGNC:50251 MIR6793 microRNA 6793 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-6793 MicroRNAs 476 2014-03-24 2016-11-16 102466737 ENSG00000275640 NR_106851 MI0022638 HGNC:50251 +HGNC:50117 MIR6794 microRNA 6794 non-coding RNA RNA, micro Approved 19p13.13 19p13.13 hsa-mir-6794 MicroRNAs 476 2014-03-24 2016-11-16 102466196 ENSG00000276181 NR_106852 MI0022639 HGNC:50117 +HGNC:50031 MIR6795 microRNA 6795 non-coding RNA RNA, micro Approved 19p13.12 19p13.12 hsa-mir-6795 MicroRNAs 476 2014-03-24 2016-11-16 102465476 ENSG00000275711 NR_106853 MI0022640 HGNC:50031 +HGNC:50186 MIR6796 microRNA 6796 non-coding RNA RNA, micro Approved 19q13.2 19q13.2 hsa-mir-6796 MicroRNAs 476 2014-03-24 2016-11-16 102465477 ENSG00000275652 NR_106854 MI0022641 HGNC:50186 +HGNC:50169 MIR6797 microRNA 6797 non-coding RNA RNA, micro Approved 19q13.2 19q13.2 hsa-mir-6797 MicroRNAs 476 2014-03-24 2016-11-16 102465478 ENSG00000276926 NR_106855 MI0022642 HGNC:50169 +HGNC:50013 MIR6798 microRNA 6798 non-coding RNA RNA, micro Approved 19q13.33 19q13.33 hsa-mir-6798 MicroRNAs 476 2014-03-24 2016-11-16 102466738 ENSG00000273898 NR_106856 MI0022643 HGNC:50013 +HGNC:50162 MIR6799 microRNA 6799 non-coding RNA RNA, micro Approved 19q13.33 19q13.33 hsa-mir-6799 MicroRNAs 476 2014-03-24 2014-11-19 102465479 ENSG00000276270 NR_106857 MI0022644 HGNC:50162 +HGNC:50042 MIR6800 microRNA 6800 non-coding RNA RNA, micro Approved 19q13.33 19q13.33 hsa-mir-6800 MicroRNAs 476 2014-03-24 2016-11-16 102465480 ENSG00000284114 NR_106858 MI0022645 HGNC:50042 +HGNC:50178 MIR6801 microRNA 6801 non-coding RNA RNA, micro Approved 19q13.41 19q13.41 hsa-mir-6801 MicroRNAs 476 2014-03-24 2016-11-16 102466984 ENSG00000274380 NR_106859 MI0022646 HGNC:50178 +HGNC:50154 MIR6802 microRNA 6802 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-6802 MicroRNAs 476 2014-03-24 2016-11-16 102465481 ENSG00000278328 NR_106860 MI0022647 HGNC:50154 +HGNC:50035 MIR6803 microRNA 6803 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-6803 MicroRNAs 476 2014-03-24 2016-11-16 102466739 ENSG00000278264 NR_106861 MI0022648 HGNC:50035 +HGNC:50253 MIR6804 microRNA 6804 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-6804 MicroRNAs 476 2014-03-24 2016-11-16 102465482 ENSG00000275519 NR_106862 MI0022649 HGNC:50253 +HGNC:50215 MIR6805 microRNA 6805 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-6805 MicroRNAs 476 2014-03-24 2016-11-16 102465483 ENSG00000284029 NR_106863 RGD:2318912 MI0022650 HGNC:50215 +HGNC:49937 MIR6806 microRNA 6806 non-coding RNA RNA, micro Approved 19q13.43 19q13.43 hsa-mir-6806 MicroRNAs 476 2014-03-24 2016-11-16 102465484 ENSG00000277588 NR_106864 MI0022651 HGNC:49937 +HGNC:50191 MIR6807 microRNA 6807 non-coding RNA RNA, micro Approved 19q13.43 19q13.43 hsa-mir-6807 MicroRNAs 476 2014-03-24 2016-11-16 102465976 ENSG00000275924 NR_106865 MI0022652 HGNC:50191 +HGNC:50046 MIR6808 microRNA 6808 non-coding RNA RNA, micro Approved 1p36.33 01p36.33 hsa-mir-6808 MicroRNAs 476 2014-03-24 2016-11-16 102466740 ENSG00000284372 NR_106866 MI0022653 HGNC:50046 +HGNC:49926 MIR6809 microRNA 6809 non-coding RNA RNA, micro Approved 2q35 02q35 hsa-mir-6809 MicroRNAs 476 2014-03-24 2016-11-16 102465485 ENSG00000275458 NR_106867 MI0022654 HGNC:49926 +HGNC:49987 MIR6810 microRNA 6810 non-coding RNA RNA, micro Approved 2q35 02q35 hsa-mir-6810 MicroRNAs 476 2014-03-24 2016-11-16 102466197 ENSG00000278524 NR_106868 MI0022655 HGNC:49987 +HGNC:49944 MIR6811 microRNA 6811 non-coding RNA RNA, micro Approved 2q37.3 02q37.3 hsa-mir-6811 MicroRNAs 476 2014-03-24 2016-11-16 102465486 ENSG00000277842 NR_106869 MI0022656 HGNC:49944 +HGNC:50116 MIR6812 microRNA 6812 non-coding RNA RNA, micro Approved 20q13.12 20q13.12 hsa-mir-6812 MicroRNAs 476 2014-03-24 2015-02-16 102465487 ENSG00000273555 NR_106870 MI0022657 HGNC:50116 +HGNC:50017 MIR6813 microRNA 6813 non-coding RNA RNA, micro Approved 20q13.33 20q13.33 hsa-mir-6813 MicroRNAs 476 2014-03-24 2016-11-16 102466741 ENSG00000274034 NR_106871 MI0022658 HGNC:50017 +HGNC:50145 MIR6814 microRNA 6814 non-coding RNA RNA, micro Approved 21q22.3 21q22.3 hsa-mir-6814 MicroRNAs 476 2014-03-24 2016-11-16 102465488 ENSG00000275166 NR_106872 MI0022659 HGNC:50145 +HGNC:50225 MIR6815 microRNA 6815 non-coding RNA RNA, micro Approved 21q22.3 21q22.3 hsa-mir-6815 MicroRNAs 476 2014-03-24 2016-11-16 102465489 ENSG00000275167 NR_106873 MI0022660 HGNC:50225 +HGNC:50256 MIR6816 microRNA 6816 non-coding RNA RNA, micro Approved 22q11.21 22q11.21 hsa-mir-6816 MicroRNAs 476 2014-03-24 2016-11-16 102465490 ENSG00000278278 NR_106874 MI0022661 HGNC:50256 +HGNC:50112 MIR6817 microRNA 6817 non-coding RNA RNA, micro Approved 22q11.23 22q11.23 hsa-mir-6817 MicroRNAs 476 2014-03-24 2016-11-16 102466198 ENSG00000277872 NR_106875 MI0022662 HGNC:50112 +HGNC:49940 MIR6818 microRNA 6818 non-coding RNA RNA, micro Approved 22q12.2 22q12.2 hsa-mir-6818 MicroRNAs 476 2014-03-24 2016-11-16 102466742 ENSG00000275818 NR_106876 MI0022663 HGNC:49940 +HGNC:50155 MIR6819 microRNA 6819 non-coding RNA RNA, micro Approved 22q12.3 22q12.3 hsa-mir-6819 MicroRNAs 476 2014-03-24 2016-11-16 102465491 ENSG00000278420 NR_106877 MI0022664 HGNC:50155 +HGNC:50095 MIR6820 microRNA 6820 non-coding RNA RNA, micro Approved 22q13.1 22q13.1 hsa-mir-6820 MicroRNAs 476 2014-03-24 2017-11-17 102465492 ENSG00000284289 NR_106878 MI0022665 HGNC:50095 +HGNC:49980 MIR6821 microRNA 6821 non-coding RNA RNA, micro Approved 22q13.33 22q13.33 hsa-mir-6821 MicroRNAs 476 2014-03-24 2016-11-16 102465493 ENSG00000276753 NR_106879 MI0022666 HGNC:49980 +HGNC:49999 MIR6822 microRNA 6822 non-coding RNA RNA, micro Approved 3p22.2 03p22.2 hsa-mir-6822 MicroRNAs 476 2014-03-24 2016-11-16 102466743 ENSG00000284158 NR_106880 MI0022667 HGNC:49999 +HGNC:49952 MIR6823 microRNA 6823 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-6823 MicroRNAs 476 2014-03-24 2016-11-16 102465494 ENSG00000278799 NR_106881 MI0022668 HGNC:49952 +HGNC:49946 MIR6824 microRNA 6824 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-6824 MicroRNAs 476 2014-03-24 2016-11-16 102465495 ENSG00000284364 NR_106882 MI0022669 HGNC:49946 +HGNC:50208 MIR6825 microRNA 6825 non-coding RNA RNA, micro Approved 3q21.3 03q21.3 hsa-mir-6825 MicroRNAs 476 2014-03-24 2016-11-16 102466199 ENSG00000275067 NR_106883 MI0022670 HGNC:50208 +HGNC:50001 MIR6826 microRNA 6826 non-coding RNA RNA, micro Approved 3q21.3 03q21.3 hsa-mir-6826 MicroRNAs 476 2014-03-24 2016-11-16 102465496 ENSG00000278658 NR_106884 MI0022671 HGNC:50001 +HGNC:50234 MIR6827 microRNA 6827 non-coding RNA RNA, micro Approved 3q22.2 03q22.2 hsa-mir-6827 MicroRNAs 476 2014-03-24 2016-11-16 102466744 NR_106885 MI0022672 HGNC:50234 +HGNC:50057 MIR6828 microRNA 6828 non-coding RNA RNA, micro Approved 3q26.2 03q26.2 hsa-mir-6828 MicroRNAs 476 2014-03-24 2016-11-16 102465497 ENSG00000283474 NR_106886 MI0022673 HGNC:50057 +HGNC:50055 MIR6829 microRNA 6829 non-coding RNA RNA, micro Approved 3q29 03q29 hsa-mir-6829 MicroRNAs 476 2014-03-24 2016-11-16 102465977 ENSG00000276489 NR_106887 MI0022674 HGNC:50055 +HGNC:49966 MIR6830 microRNA 6830 non-coding RNA RNA, micro Approved 5q31.1 05q31.1 hsa-mir-6830 MicroRNAs 476 2014-03-24 2016-11-16 102465498 ENSG00000283678 NR_106888 MI0022675 HGNC:49966 +HGNC:49936 MIR6831 microRNA 6831 non-coding RNA RNA, micro Approved 5q31.3 05q31.3 hsa-mir-6831 MicroRNAs 476 2014-03-24 2016-11-16 102465499 ENSG00000283717 NR_106889 MI0022676 HGNC:49936 +HGNC:50140 MIR6832 microRNA 6832 non-coding RNA RNA, micro Approved 6p21.33 06p21.33 hsa-mir-6832 MicroRNAs 476 2014-03-24 2016-11-16 102466745 ENSG00000274494 NR_106890 MI0022677 HGNC:50140 +HGNC:50245 MIR6833 microRNA 6833 non-coding RNA RNA, micro Approved 6p21.32 06p21.32 hsa-mir-6833 MicroRNAs 476 2014-03-24 2016-11-16 102465500 ENSG00000277264 NR_106891 MI0022678 HGNC:50245 +HGNC:50108 MIR6834 microRNA 6834 non-coding RNA RNA, micro Approved 6p21.32 06p21.32 hsa-mir-6834 MicroRNAs 476 2014-03-24 2018-08-17 102465501 ENSG00000284064 NR_106892 MI0022679 HGNC:50108 +HGNC:49963 MIR6835 microRNA 6835 non-coding RNA RNA, micro Approved 6p21.31 06p21.31 hsa-mir-6835 MicroRNAs 476 2014-03-24 2016-11-16 102465502 ENSG00000276404 NR_106893 MI0022680 HGNC:49963 +HGNC:50067 MIR6836 microRNA 6836 non-coding RNA RNA, micro Approved 7p22.3 07p22.3 hsa-mir-6836 MicroRNAs 476 2014-03-24 2016-11-16 102465503 ENSG00000284047 NR_106895 MI0022682 HGNC:50067 +HGNC:50125 MIR6837 microRNA 6837 non-coding RNA RNA, micro Approved 7p13 07p13 hsa-mir-6837 MicroRNAs 476 2014-03-24 2016-11-16 102466985 ENSG00000284067 NR_106896 MI0022683 HGNC:50125 +HGNC:50050 MIR6838 microRNA 6838 non-coding RNA RNA, micro Approved 7p13 07p13 hsa-mir-6838 MicroRNAs 476 2014-03-24 2016-11-16 102465504 ENSG00000283969 NR_106897 MI0022684 HGNC:50050 +HGNC:49953 MIR6839 microRNA 6839 non-coding RNA RNA, micro Approved 7q11.21 07q11.21 hsa-mir-6839 MicroRNAs 476 2014-03-24 2016-10-25 102465505 ENSG00000275667 NR_106898 MI0022685 HGNC:49953 +HGNC:50138 MIR6840 microRNA 6840 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-6840 MicroRNAs 476 2014-03-24 2016-11-16 102466747 ENSG00000284012 NR_106899 MI0022686 HGNC:50138 +HGNC:50070 MIR6841 microRNA 6841 non-coding RNA RNA, micro Approved 8p21.2 08p21.2 hsa-mir-6841 MicroRNAs 476 2014-03-24 2016-11-16 102465506 ENSG00000283327 NR_106900 MI0022687 HGNC:50070 +HGNC:50254 MIR6842 microRNA 6842 non-coding RNA RNA, micro Approved 8p21.2 08p21.2 hsa-mir-6842 MicroRNAs 476 2014-03-24 2016-11-16 102465507 ENSG00000273836 NR_106901 MI0022688 HGNC:50254 +HGNC:50240 MIR6843 microRNA 6843 non-coding RNA RNA, micro Approved 8p21.1 08p21.1 hsa-mir-6843 MicroRNAs 476 2014-03-24 2016-11-16 102465508 ENSG00000284280 NR_106902 MI0022689 HGNC:50240 +HGNC:50135 MIR6844 microRNA 6844 non-coding RNA RNA, micro Approved 8q24.13 08q24.13 hsa-mir-6844 MicroRNAs 476 2014-03-24 2016-11-16 102466200 ENSG00000284087 NR_106903 MI0022690 HGNC:50135 +HGNC:49956 MIR6845 microRNA 6845 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-6845 MicroRNAs 476 2014-03-24 2016-11-16 102466748 ENSG00000284142 NR_106904 MI0022691 HGNC:49956 +HGNC:50026 MIR6846 microRNA 6846 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-6846 MicroRNAs 476 2014-03-24 2016-10-25 102465509 ENSG00000277888 NR_106905 MI0022692 HGNC:50026 +HGNC:50022 MIR6847 microRNA 6847 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-6847 MicroRNAs 476 2014-03-24 2016-11-16 102465510 ENSG00000284200 NR_106906 MI0022693 HGNC:50022 +HGNC:50176 MIR6848 microRNA 6848 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-6848 MicroRNAs 476 2014-03-24 2016-11-16 102465511 ENSG00000284229 NR_106907 MI0022694 HGNC:50176 +HGNC:49991 MIR6849 microRNA 6849 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-6849 MicroRNAs 476 2014-03-24 2016-11-16 102466749 ENSG00000283770 NR_106908 MI0022695 HGNC:49991 +HGNC:50093 MIR6850 microRNA 6850 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-6850 MicroRNAs 476 2014-03-24 2016-11-16 102465978 ENSG00000283764 NR_106909 MI0022696 HGNC:50093 +HGNC:50083 MIR6851 microRNA 6851 non-coding RNA RNA, micro Approved 9p13.3 09p13.3 hsa-mir-6851 MicroRNAs 476 2014-03-24 2016-11-16 102465512 ENSG00000275651 NR_106910 MI0022697 HGNC:50083 +HGNC:49993 MIR6852 microRNA 6852 non-coding RNA RNA, micro Approved 9p13.3 09p13.3 hsa-mir-6852 MicroRNAs 476 2014-03-24 2016-11-16 102465513 ENSG00000284195 NR_106911 MI0022698 HGNC:49993 +HGNC:49945 MIR6853 microRNA 6853 non-coding RNA RNA, micro Approved 9p13.3 09p13.3 hsa-mir-6853 MicroRNAs 476 2014-03-24 2016-11-16 102466201 ENSG00000273945 NR_106912 MI0022699 HGNC:49945 +HGNC:50084 MIR6854 microRNA 6854 non-coding RNA RNA, micro Approved 9q22.33 09q22.33 hsa-mir-6854 MicroRNAs 476 2014-03-24 2016-11-16 102465514 ENSG00000278412 NR_106913 MI0022700 HGNC:50084 +HGNC:50061 MIR6855 microRNA 6855 non-coding RNA RNA, micro Approved 9q34.11 09q34.11 hsa-mir-6855 MicroRNAs 476 2014-03-24 2016-11-16 102466750 ENSG00000276124 NR_106914 MI0022701 HGNC:50061 +HGNC:50242 MIR6856 microRNA 6856 non-coding RNA RNA, micro Approved 9q34.12 09q34.12 hsa-mir-6856 MicroRNAs 476 2014-03-24 2016-11-16 102465515 ENSG00000277713 NR_106915 MI0022702 HGNC:50242 +HGNC:50263 MIR6857 microRNA 6857 non-coding RNA RNA, micro Approved Xp11.22 Xp11.22 hsa-mir-6857 MicroRNAs 476 2014-03-24 2016-11-16 102465516 ENSG00000278204 NR_106916 MI0022703 HGNC:50263 +HGNC:50250 MIR6858 microRNA 6858 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-6858 MicroRNAs 476 2014-03-24 2016-11-16 102465517 ENSG00000276350 NR_106917 MI0022704 HGNC:50250 +HGNC:50039 MIR6859-1 microRNA 6859-1 non-coding RNA RNA, micro Approved 1p36.33 01p36.33 hsa-mir-6859-1 MicroRNAs 476 2014-03-24 2016-11-16 102466751 ENSG00000278267 NR_106918 MI0022705 HGNC:50039 +HGNC:49954 MIR6859-2 microRNA 6859-2 non-coding RNA RNA, micro Approved 1p36.33 01p36.33 hsa-mir-6859-2 MicroRNAs 476 2014-03-24 2015-07-30 102465909 ENSG00000273874 NR_107062 MI0026420 HGNC:49954 +HGNC:50248 MIR6859-3 microRNA 6859-3 non-coding RNA RNA, micro Approved 15q26.3 15q26.3 hsa-mir-6859-3 MicroRNAs 476 2014-03-24 2015-07-30 102465910 ENSG00000275449 NR_107063 MI0026421 HGNC:50248 +HGNC:50840 MIR6859-4 microRNA 6859-4 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 MicroRNAs 476 2014-06-26 2016-11-16 103504738 ENSG00000278739 NR_128720 MI0031521 HGNC:50840 +HGNC:50086 MIR6860 microRNA 6860 non-coding RNA RNA, micro Approved 11q13.2 11q13.2 hsa-mir-6860 MicroRNAs 476 2014-03-24 2016-11-16 102465518 ENSG00000283326 NR_106920 MI0022707 HGNC:50086 +HGNC:50129 MIR6861 microRNA 6861 non-coding RNA RNA, micro Approved 12q24.13 12q24.13 hsa-mir-6861 MicroRNAs 476 2014-03-24 2016-11-16 102465519 ENSG00000283793 NR_106921 MI0022708 HGNC:50129 +HGNC:50052 MIR6862-1 microRNA 6862-1 non-coding RNA RNA, micro Approved 16p12.1 16p12.1 hsa-mir-6862-1 MicroRNAs 476 2014-03-24 2016-11-16 102465520 ENSG00000275429 NR_106922 MI0022709 HGNC:50052 +HGNC:50192 MIR6862-2 microRNA 6862-2 non-coding RNA RNA, micro Approved 16p11.2 16p11.2 hsa-mir-6862-2 MicroRNAs 476 2014-03-24 2016-11-16 102465907 ENSG00000278340 NR_107058 MI0026415 HGNC:50192 +HGNC:49942 MIR6863 microRNA 6863 non-coding RNA RNA, micro Approved 16q13 16q13 hsa-mir-6863 MicroRNAs 476 2014-03-24 2016-11-16 102466752 ENSG00000283471 NR_106923 MI0022710 HGNC:49942 +HGNC:50226 MIR6864 microRNA 6864 non-coding RNA RNA, micro Approved 17p13.2 17p13.2 hsa-mir-6864 MicroRNAs 476 2014-03-24 2016-11-16 102465521 ENSG00000274300 NR_106924 MI0022711 HGNC:50226 +HGNC:50182 MIR6865 microRNA 6865 non-coding RNA RNA, micro Approved 17p13.2 17p13.2 hsa-mir-6865 MicroRNAs 476 2014-03-24 2016-11-16 102465522 ENSG00000278517 NR_106925 MI0022712 HGNC:50182 +HGNC:49932 MIR6866 microRNA 6866 non-coding RNA RNA, micro Approved 17q21.1 17q21.1 hsa-mir-6866 MicroRNAs 476 2014-03-24 2016-11-16 102466986 ENSG00000284144 NR_106926 MI0022713 HGNC:49932 +HGNC:50134 MIR6867 microRNA 6867 non-coding RNA RNA, micro Approved 17q21.1 17q21.1 hsa-mir-6867 MicroRNAs 476 2014-03-24 2016-11-16 102465523 ENSG00000274621 NR_106927 MI0022714 HGNC:50134 +HGNC:50096 MIR6868 microRNA 6868 non-coding RNA RNA, micro Approved 17q25.1 17q25.1 hsa-mir-6868 MicroRNAs 476 2014-03-24 2016-11-16 102466753 ENSG00000275360 NR_106928 MI0022715 HGNC:50096 +HGNC:50056 MIR6869 microRNA 6869 non-coding RNA RNA, micro Approved 20p13 20p13 hsa-mir-6869 MicroRNAs 476 2014-03-24 2016-11-16 102465524 ENSG00000284436 NR_106929 MI0022716 HGNC:50056 +HGNC:50184 MIR6870 microRNA 6870 non-coding RNA RNA, micro Approved 20p12.2 20p12.2 hsa-mir-6870 MicroRNAs 476 2014-03-24 2016-11-16 102465525 ENSG00000273745 NR_106930 MI0022717 HGNC:50184 +HGNC:49964 MIR6871 microRNA 6871 non-coding RNA RNA, micro Approved 20q12 20q12 hsa-mir-6871 MicroRNAs 476 2014-03-24 2016-11-16 102466912 ENSG00000276169 NR_106931 MI0022718 HGNC:49964 +HGNC:50037 MIR6872 microRNA 6872 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-6872 MicroRNAs 476 2014-03-24 2016-11-16 102465526 ENSG00000283848 NR_106932 MI0022719 HGNC:50037 +HGNC:50231 MIR6873 microRNA 6873 non-coding RNA RNA, micro Approved 6p21.32 06p21.32 hsa-mir-6873 MicroRNAs 476 2014-03-24 2016-11-16 102466754 ENSG00000284517 NR_106933 MI0022720 HGNC:50231 +HGNC:50146 MIR6874 microRNA 6874 non-coding RNA RNA, micro Approved 7p22.1 07p22.1 hsa-mir-6874 MicroRNAs 476 2014-03-24 2016-11-16 102466203 ENSG00000283419 NR_106934 MI0022721 HGNC:50146 +HGNC:50015 MIR6875 microRNA 6875 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-6875 MicroRNAs 476 2014-03-24 2016-11-16 102466755 ENSG00000283821 NR_106935 MI0022722 HGNC:50015 +HGNC:50181 MIR6876 microRNA 6876 non-coding RNA RNA, micro Approved 8p21.2 08p21.2 hsa-mir-6876 MicroRNAs 476 2014-03-24 2016-11-16 102465527 ENSG00000274988 NR_106936 MI0022723 HGNC:50181 +HGNC:50205 MIR6877 microRNA 6877 non-coding RNA RNA, micro Approved 9q34.13 09q34.13 hsa-mir-6877 MicroRNAs 476 2014-03-24 2016-11-16 102465528 ENSG00000273932 NR_106937 MI0022724 HGNC:50205 +HGNC:50269 MIR6878 microRNA 6878 non-coding RNA RNA, micro Approved 1q21.2 01q21.2 hsa-mir-6878 MicroRNAs 476 2014-03-24 2016-11-16 102465529 ENSG00000283933 NR_106938 MI0022725 HGNC:50269 +HGNC:49957 MIR6879 microRNA 6879 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-6879 MicroRNAs 476 2014-03-24 2016-11-16 102466756 ENSG00000278851 NR_106939 MI0022726 HGNC:49957 +HGNC:50187 MIR6880 microRNA 6880 non-coding RNA RNA, micro Approved 12q24.31 12q24.31 hsa-mir-6880 MicroRNAs 476 2014-03-24 2016-11-16 102466204 ENSG00000275967 NR_106940 MI0022727 HGNC:50187 +HGNC:50098 MIR6881 microRNA 6881 non-coding RNA RNA, micro Approved 15q24.1 15q24.1 hsa-mir-6881 MicroRNAs 476 2014-03-24 2016-11-16 102465530 ENSG00000277391 NR_106941 MI0022728 HGNC:50098 +HGNC:49928 MIR6882 microRNA 6882 non-coding RNA RNA, micro Approved 15q24.1 15q24.1 hsa-mir-6882 MicroRNAs 476 2014-03-24 2016-11-16 102465531 ENSG00000275411 NR_106942 MI0022729 HGNC:49928 +HGNC:50019 MIR6883 microRNA 6883 non-coding RNA RNA, micro Approved 17p13.1 17p13.1 hsa-mir-6883 MicroRNAs 476 2014-03-24 2016-11-16 102465532 ENSG00000284117 NR_106943 MI0022730 HGNC:50019 +HGNC:50091 MIR6884 microRNA 6884 non-coding RNA RNA, micro Approved 17q21.1 17q21.1 hsa-mir-6884 MicroRNAs 476 2014-03-24 2016-11-16 102466757 ENSG00000283721 NR_106944 MI0022731 HGNC:50091 +HGNC:50221 MIR6885 microRNA 6885 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-6885 MicroRNAs 476 2014-03-24 2016-11-16 102465533 ENSG00000274390 NR_106945 MI0022732 HGNC:50221 +HGNC:50121 MIR6886 microRNA 6886 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-6886 MicroRNAs 476 2014-03-24 2016-11-16 102465534 ENSG00000284553 NR_106946 MI0022733 HGNC:50121 +HGNC:50065 MIR6887 microRNA 6887 non-coding RNA RNA, micro Approved 19q13.12 19q13.12 hsa-mir-6887 MicroRNAs 476 2014-03-24 2016-11-16 102466205 ENSG00000284065 NR_106947 MI0022734 HGNC:50065 +HGNC:50071 MIR6888 microRNA 6888 non-coding RNA RNA, micro Approved 2q24.2 02q24.2 hsa-mir-6888 MicroRNAs 476 2014-03-24 2016-11-16 102465535 ENSG00000275141 NR_106948 MI0022735 HGNC:50071 +HGNC:50014 MIR6889 microRNA 6889 non-coding RNA RNA, micro Approved 22q13.2 22q13.2 hsa-mir-6889 MicroRNAs 476 2014-03-24 2016-11-16 102466758 ENSG00000274552 NR_106949 MI0022736 HGNC:50014 +HGNC:49990 MIR6890 microRNA 6890 non-coding RNA RNA, micro Approved 3p21.31 03p21.31 hsa-mir-6890 MicroRNAs 476 2014-03-24 2016-11-16 102465536 ENSG00000284488 NR_106950 MI0022737 HGNC:49990 +HGNC:50243 MIR6891 microRNA 6891 non-coding RNA RNA, micro Approved 6p21.33 06p21.33 hsa-mir-6891 MicroRNAs 476 2014-03-24 2016-11-16 102465537 ENSG00000277402 NR_106951 MI0022738 HGNC:50243 +HGNC:50053 MIR6892 microRNA 6892 non-coding RNA RNA, micro Approved 7q34 07q34 hsa-mir-6892 MicroRNAs 476 2014-03-24 2016-11-16 102465538 ENSG00000278449 NR_106952 MI0022739 HGNC:50053 +HGNC:50130 MIR6893 microRNA 6893 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-6893 MicroRNAs 476 2014-03-24 2015-03-05 102466271 ENSG00000276598 NR_106953 MI0022740 HGNC:50130 +HGNC:49938 MIR6894 microRNA 6894 non-coding RNA RNA, micro Approved Xp11.22 Xp11.22 hsa-mir-6894 MicroRNAs 476 2014-03-24 2016-11-16 102466759 ENSG00000277474 NR_106954 MI0022741 HGNC:49938 +HGNC:50210 MIR6895 microRNA 6895 non-coding RNA RNA, micro Approved Xp11.22 Xp11.22 hsa-mir-6895 MicroRNAs 476 2014-03-24 2016-11-16 102465539 ENSG00000276575 NR_106955 MI0022742 HGNC:50210 +HGNC:50085 MIR7106 microRNA 7106 non-coding RNA RNA, micro Approved 12q24.13 12q24.13 hsa-mir-7106 MicroRNAs 476 2014-03-24 2016-11-16 102466222 ENSG00000276908 NR_106956 MI0022957 HGNC:50085 +HGNC:50006 MIR7107 microRNA 7107 non-coding RNA RNA, micro Approved 12q24.31 12q24.31 hsa-mir-7107 MicroRNAs 476 2014-03-24 2016-11-16 102465665 ENSG00000284402 NR_106957 MI0022958 HGNC:50006 +HGNC:49998 MIR7108 microRNA 7108 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-7108 MicroRNAs 476 2014-03-24 2016-11-16 102466806 ENSG00000283728 NR_106958 MI0022959 HGNC:49998 +HGNC:50122 MIR7109 microRNA 7109 non-coding RNA RNA, micro Approved 22q12.2 22q12.2 hsa-mir-7109 MicroRNAs 476 2014-03-24 2016-11-16 102465666 ENSG00000284082 NR_106959 MI0022960 HGNC:50122 +HGNC:50024 MIR7110 microRNA 7110 non-coding RNA RNA, micro Approved 3q21.1 03q21.1 hsa-mir-7110 MicroRNAs 476 2014-03-24 2016-11-16 102465667 ENSG00000284421 NR_106960 MI0022961 HGNC:50024 +HGNC:50073 MIR7111 microRNA 7111 non-coding RNA RNA, micro Approved 6p21.31 06p21.31 hsa-mir-7111 MicroRNAs 476 2014-03-24 2016-11-16 102465668 ENSG00000276712 NR_106961 MI0022962 HGNC:50073 +HGNC:50149 MIR7112 microRNA 7112 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 "hsa-mir-7112-2|hsa-mir-7112-1" "MIR7112-2|MIR7112-1" "microRNA 7112-2|microRNA 7112-1" MicroRNAs 476 2014-03-24 2014-04-29 2014-04-29 2020-04-20 102465906 ENSG00000284054 NR_107057 MI0022963 HGNC:50149 +HGNC:49947 MIR7113 microRNA 7113 non-coding RNA RNA, micro Approved 11q13.2 11q13.2 hsa-mir-7113 MicroRNAs 476 2014-03-24 2016-11-16 102465669 ENSG00000284293 NR_106963 MI0022964 HGNC:49947 +HGNC:50157 MIR7114 microRNA 7114 non-coding RNA RNA, micro Approved 9q34.3 09q34.3 hsa-mir-7114 MicroRNAs 476 2014-03-24 2016-11-16 102466223 ENSG00000284317 NR_106964 MI0022965 HGNC:50157 +HGNC:49982 MIR7150 microRNA 7150 non-coding RNA RNA, micro Approved 9q33.3 09q33.3 hsa-mir-7150 MicroRNAs 476 2014-03-24 2016-11-16 102465688 ENSG00000274932 NR_106972 MI0023610 HGNC:49982 +HGNC:50170 MIR7151 microRNA 7151 non-coding RNA RNA, micro Approved 10q21.3 10q21.3 hsa-mir-7151 MicroRNAs 476 2014-03-24 2016-11-16 102466814 ENSG00000276866 NR_106973 MI0023611 HGNC:50170 +HGNC:50257 MIR7152 microRNA 7152 non-coding RNA RNA, micro Approved 10q22.1 10q22.1 hsa-mir-7152 MicroRNAs 476 2014-03-24 2016-11-16 102465689 ENSG00000274824 NR_106974 MI0023612 HGNC:50257 +HGNC:50190 MIR7153 microRNA 7153 non-coding RNA RNA, micro Approved 18p11.21 18p11.21 hsa-mir-7153 MicroRNAs 476 2014-03-24 2016-11-16 102465690 ENSG00000283492 NR_106975 MI0023613 HGNC:50190 +HGNC:49972 MIR7154 microRNA 7154 non-coding RNA RNA, micro Approved 11p11.2 11p11.2 hsa-mir-7154 MicroRNAs 476 2014-03-24 2016-11-16 102465691 ENSG00000276639 NR_106976 MI0023614 HGNC:49972 +HGNC:50005 MIR7155 microRNA 7155 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-7155 MicroRNAs 476 2014-03-24 2016-11-16 102466815 ENSG00000278359 NR_106977 MI0023615 HGNC:50005 +HGNC:50023 MIR7156 microRNA 7156 non-coding RNA RNA, micro Approved 1p31.1 01p31.1 hsa-mir-7156 MicroRNAs 476 2014-03-24 2016-11-16 102466995 ENSG00000276081 NR_106978 MI0023616 HGNC:50023 +HGNC:50010 MIR7157 microRNA 7157 non-coding RNA RNA, micro Approved 2q22.1 02q22.1 hsa-mir-7157 MicroRNAs 476 2014-03-24 2016-11-16 102465692 ENSG00000283506 NR_106979 MI0023617 HGNC:50010 +HGNC:49971 MIR7158 microRNA 7158 non-coding RNA RNA, micro Approved 2p25.2 02p25.2 hsa-mir-7158 MicroRNAs 476 2014-03-24 2016-11-16 102465693 ENSG00000276733 NR_106980 MI0023618 HGNC:49971 +HGNC:49978 MIR7159 microRNA 7159 non-coding RNA RNA, micro Approved 6p21.31 06p21.31 hsa-mir-7159 MicroRNAs 476 2014-03-24 2016-11-16 102466816 ENSG00000276824 NR_106982 MI0023620 HGNC:49978 +HGNC:50028 MIR7160 microRNA 7160 non-coding RNA RNA, micro Approved 8p23.3 08p23.3 hsa-mir-7160 MicroRNAs 476 2014-03-24 2016-11-16 102465695 ENSG00000273593 NR_106983 MI0023621 HGNC:50028 +HGNC:49985 MIR7161 microRNA 7161 non-coding RNA RNA, micro Approved 6q25.3 06q25.3 hsa-mir-7161 MicroRNAs 476 2014-03-24 2016-11-16 102465694 ENSG00000278571 NR_106981 MI0023619 HGNC:49985 +HGNC:50189 MIR7162 microRNA 7162 non-coding RNA RNA, micro Approved 10p11.23 10p11.23 hsa-mir-7162 MicroRNAs 476 2014-03-24 2016-11-16 102466227 ENSG00000284277 NR_106985 MI0023623 HGNC:50189 +HGNC:49839 MIR7515 microRNA 7515 non-coding RNA RNA, micro Approved 2p25.2 02p25.2 hsa-mir-7515 MicroRNAs 476 2014-03-13 2014-03-13 102466235 ENSG00000283394 NR_106986 23087254 MI0024354 HGNC:49839 +HGNC:49838 MIR7515HG MIR7515 host gene non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 MIR7515 host gene (non-protein coding) MicroRNA non-coding host genes 1688 2014-03-13 2015-02-20 2015-02-20 102800314 ENSG00000236172 OTTHUMG00000151631 "BX119852|DB061664" NR_110497 HGNC:49838 +HGNC:50216 MIR7702 microRNA 7702 non-coding RNA RNA, micro Approved 9q31.3 09q31.3 hsa-mir-7702 MicroRNAs 476 2014-03-24 2016-11-16 102465800 ENSG00000274263 NR_106989 MI0025238 HGNC:50216 +HGNC:50271 MIR7703 microRNA 7703 non-coding RNA RNA, micro Approved 14q12 14q12 hsa-mir-7703 MicroRNAs 476 2014-03-24 2016-11-16 102465801 ENSG00000283856 NR_106990 MI0025239 HGNC:50271 +HGNC:50089 MIR7704 microRNA 7704 non-coding RNA RNA, micro Approved 2q31.1 02q31.1 hsa-mir-7704 MicroRNAs 476 2014-03-24 2018-08-17 102465802 ENSG00000283880 NR_106991 MI0025240 HGNC:50089 +HGNC:50143 MIR7705 microRNA 7705 non-coding RNA RNA, micro Approved 8q22.3 08q22.3 hsa-mir-7705 MicroRNAs 476 2014-03-24 2016-11-16 102466854 ENSG00000284570 NR_106992 MI0025241 HGNC:50143 +HGNC:50110 MIR7706 microRNA 7706 non-coding RNA RNA, micro Approved 15q25.3 15q25.3 hsa-mir-7706 MicroRNAs 476 2014-03-24 2018-08-17 102465803 ENSG00000284160 NR_106993 MI0025242 HGNC:50110 +HGNC:50074 MIR7843 microRNA 7843 non-coding RNA RNA, micro Approved 14q24.2 14q24.2 hsa-mir-7843 MicroRNAs 476 2014-03-24 2016-11-16 102465832 ENSG00000273830 NR_106994 MI0025510 HGNC:50074 +HGNC:50044 MIR7844 microRNA 7844 non-coding RNA RNA, micro Approved 12q22 12q22 hsa-mir-7844 MicroRNAs 476 2014-03-24 2016-11-16 102465834 ENSG00000283818 NR_106998 MI0025514 HGNC:50044 +HGNC:50267 MIR7845 microRNA 7845 non-coding RNA RNA, micro Approved 2q33.3 02q33.3 hsa-mir-7845 MicroRNAs 476 2014-03-24 2016-11-16 102465835 ENSG00000277590 NR_106999 MI0025515 HGNC:50267 +HGNC:50029 MIR7846 microRNA 7846 non-coding RNA RNA, micro Approved 1p36.22 01p36.22 hsa-mir-7846 MicroRNAs 476 2014-03-24 2016-11-16 102465836 ENSG00000283789 NR_107000 MI0025516 HGNC:50029 +HGNC:50153 MIR7847 microRNA 7847 non-coding RNA RNA, micro Approved 11p15.5 11p15.5 hsa-mir-7847 MicroRNAs 476 2014-03-24 2016-11-16 102465993 ENSG00000284594 NR_107001 MI0025517 HGNC:50153 +HGNC:50058 MIR7848 microRNA 7848 non-coding RNA RNA, micro Approved 8q24.22 08q24.22 hsa-mir-7848 MicroRNAs 476 2014-03-24 2016-11-16 102466865 ENSG00000276961 NR_107002 MI0025518 HGNC:50058 +HGNC:50166 MIR7849 microRNA 7849 non-coding RNA RNA, micro Approved 4q31.22 04q31.22 hsa-mir-7849 MicroRNAs 476 2014-03-24 2016-11-16 102465837 ENSG00000278438 NR_107003 MI0025519 HGNC:50166 +HGNC:50118 MIR7850 microRNA 7850 non-coding RNA RNA, micro Approved 19p13.3 19p13.3 hsa-mir-7850 MicroRNAs 476 2014-03-24 2016-11-16 102465838 ENSG00000277904 NR_107004 MI0025520 HGNC:50118 +HGNC:50127 MIR7851 microRNA 7851 non-coding RNA RNA, micro Approved 12q12 12q12 hsa-mir-7851 MicroRNAs 476 2014-03-24 2016-11-16 102467003 ENSG00000278520 NR_107005 MI0025521 HGNC:50127 +HGNC:50201 MIR7852 microRNA 7852 non-coding RNA RNA, micro Approved 1p13.3 01p13.3 hsa-mir-7852 MicroRNAs 476 2014-03-24 2016-11-16 102465839 ENSG00000275455 NR_107006 MI0025522 HGNC:50201 +HGNC:49933 MIR7853 microRNA 7853 non-coding RNA RNA, micro Approved 6p25.1 06p25.1 hsa-mir-7853 MicroRNAs 476 2014-03-24 2016-11-16 102466866 ENSG00000263572 NR_107007 MI0025523 HGNC:49933 +HGNC:50047 MIR7854 microRNA 7854 non-coding RNA RNA, micro Approved 16q23.2 16q23.2 hsa-mir-7854 MicroRNAs 476 2014-03-24 2016-11-16 102465840 ENSG00000277255 NR_107008 MI0025524 HGNC:50047 +HGNC:50244 MIR7855 microRNA 7855 non-coding RNA RNA, micro Approved 14q23.3 14q23.3 hsa-mir-7855 MicroRNAs 476 2014-03-24 2016-11-16 102465841 ENSG00000284269 NR_107009 MI0025525 HGNC:50244 +HGNC:50268 MIR7856 microRNA 7856 non-coding RNA RNA, micro Approved 1p22.3 01p22.3 hsa-mir-7856 MicroRNAs 476 2014-03-24 2016-11-16 102465842 ENSG00000278281 NR_107010 MI0025526 HGNC:50268 +HGNC:50040 MIR7973-1 microRNA 7973-1 non-coding RNA RNA, micro Approved 15q21.2 15q21.2 hsa-mir-7973-1 MicroRNAs 476 2014-03-24 2016-11-16 102466250 ENSG00000278098 NR_107012 MI0025748 HGNC:50040 +HGNC:50080 MIR7973-2 microRNA 7973-2 non-coding RNA RNA, micro Approved 15q21.2 15q21.2 hsa-mir-7973-2 MicroRNAs 476 2014-03-24 2016-11-16 102465855 ENSG00000283614 NR_107013 MI0025749 HGNC:50080 +HGNC:49992 MIR7974 microRNA 7974 non-coding RNA RNA, micro Approved 19p13.2 19p13.2 hsa-mir-7974 MicroRNAs 476 2014-03-24 2016-11-16 102465856 ENSG00000274713 NR_107014 MI0025750 HGNC:49992 +HGNC:49967 MIR7975 microRNA 7975 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-7975 MicroRNAs 476 2014-03-24 2016-11-16 102466872 ENSG00000275863 NR_107015 MI0025751 HGNC:49967 +HGNC:50092 MIR7976 microRNA 7976 non-coding RNA RNA, micro Approved 3q21.3 03q21.3 hsa-mir-7976 MicroRNAs 476 2014-03-24 2016-11-16 102465857 ENSG00000276083 NR_107016 MI0025752 HGNC:50092 +HGNC:49969 MIR7977 microRNA 7977 non-coding RNA RNA, micro Approved 3q26.32 03q26.32 hsa-mir-7977 MicroRNAs 476 2014-03-24 2016-11-16 102465858 ENSG00000283333 NR_107017 MI0025753 HGNC:49969 +HGNC:50113 MIR7978 microRNA 7978 non-coding RNA RNA, micro Approved 4p15.2 04p15.2 hsa-mir-7978 MicroRNAs 476 2014-03-24 2016-11-16 102465859 ENSG00000283281 NR_107018 MI0025754 HGNC:50113 +HGNC:50252 MIR8052 microRNA 8052 non-coding RNA RNA, micro Approved 11q24.3 11q24.3 hsa-mir-8052 MicroRNAs 476 2014-03-24 2016-11-16 102466873 ENSG00000274999 NR_107019 MI0025888 HGNC:50252 +HGNC:50137 MIR8053 microRNA 8053 non-coding RNA RNA, micro Approved 4p12 04p12 hsa-mir-8053 MicroRNAs 476 2014-03-24 2016-11-16 102467004 ENSG00000277388 NR_107020 MI0025889 HGNC:50137 +HGNC:50177 MIR8054 microRNA 8054 non-coding RNA RNA, micro Approved 11p14.3 11p14.3 hsa-mir-8054 MicroRNAs 476 2014-03-24 2016-11-16 102465860 ENSG00000275868 NR_107021 MI0025890 HGNC:50177 +HGNC:50241 MIR8055 microRNA 8055 non-coding RNA RNA, micro Approved 8p23.1 08p23.1 hsa-mir-8055 MicroRNAs 476 2014-03-24 2016-11-16 102465861 ENSG00000276580 NR_107022 MI0025891 HGNC:50241 +HGNC:49948 MIR8056 microRNA 8056 non-coding RNA RNA, micro Approved 5q35.2 05q35.2 hsa-mir-8056 MicroRNAs 476 2014-03-24 2016-11-16 102465862 ENSG00000274994 NR_107023 MI0025892 HGNC:49948 +HGNC:49960 MIR8057 microRNA 8057 non-coding RNA RNA, micro Approved 18q11.2 18q11.2 hsa-mir-8057 MicroRNAs 476 2014-03-24 2016-11-16 102466874 ENSG00000276221 NR_107024 MI0025893 HGNC:49960 +HGNC:50018 MIR8058 microRNA 8058 non-coding RNA RNA, micro Approved 16q23.3 16q23.3 hsa-mir-8058 MicroRNAs 476 2014-03-24 2016-11-16 102465863 ENSG00000277387 NR_107025 MI0025894 HGNC:50018 +HGNC:50068 MIR8059 microRNA 8059 non-coding RNA RNA, micro Approved 17q21.33 17q21.33 hsa-mir-8059 MicroRNAs 476 2014-03-24 2016-11-16 102466918 ENSG00000278672 NR_107026 MI0025895 HGNC:50068 +HGNC:50180 MIR8060 microRNA 8060 non-coding RNA RNA, micro Approved 3q11.2 03q11.2 hsa-mir-8060 MicroRNAs 476 2014-03-24 2016-11-16 102465864 ENSG00000278103 NR_107027 MI0025896 HGNC:50180 +HGNC:50077 MIR8061 microRNA 8061 non-coding RNA RNA, micro Approved 19q13.42 19q13.42 hsa-mir-8061 MicroRNAs 476 2014-03-24 2016-11-16 102466251 ENSG00000277636 NR_107028 MI0025897 HGNC:50077 +HGNC:49975 MIR8062 microRNA 8062 non-coding RNA RNA, micro Approved 20p12.3 20p12.3 hsa-mir-8062 MicroRNAs 476 2014-03-24 2016-11-16 102465865 ENSG00000278159 NR_107029 MI0025898 HGNC:49975 +HGNC:50088 MIR8063 microRNA 8063 non-coding RNA RNA, micro Approved 15q14 15q14 hsa-mir-8063 MicroRNAs 476 2014-03-24 2016-11-16 102466875 ENSG00000277202 NR_107030 MI0025899 HGNC:50088 +HGNC:50236 MIR8064 microRNA 8064 non-coding RNA RNA, micro Approved 3p21.1 03p21.1 hsa-mir-8064 MicroRNAs 476 2014-03-24 2016-11-16 102465866 ENSG00000275789 NR_107031 MI0025900 HGNC:50236 +HGNC:49959 MIR8065 microRNA 8065 non-coding RNA RNA, micro Approved 16p13.3 16p13.3 hsa-mir-8065 MicroRNAs 476 2014-03-24 2016-11-16 102465867 ENSG00000273648 NR_107032 MI0025901 HGNC:49959 +HGNC:50043 MIR8066 microRNA 8066 non-coding RNA RNA, micro Approved 4q24 04q24 hsa-mir-8066 MicroRNAs 476 2014-03-24 2016-11-16 102465868 ENSG00000273882 NR_107033 MI0025902 HGNC:50043 +HGNC:49934 MIR8067 microRNA 8067 non-coding RNA RNA, micro Approved 15q22.2 15q22.2 hsa-mir-8067 MicroRNAs 476 2014-03-24 2016-11-16 102465869 ENSG00000277919 NR_107034 MI0025903 HGNC:49934 +HGNC:50238 MIR8068 microRNA 8068 non-coding RNA RNA, micro Approved 11p14.1 11p14.1 hsa-mir-8068 MicroRNAs 476 2014-03-24 2016-11-16 102466876 ENSG00000273912 NR_107035 MI0025904 HGNC:50238 +HGNC:50836 MIR8069 microRNA 8069 non-coding RNA RNA, micro Approved 21q11.2 21q11.2 MIR8069-2 microRNA 8069-2 MicroRNAs 476 2014-06-26 2021-06-18 2021-06-18 2021-06-18 103504736 ENSG00000278618 NR_128718 MI0031519 HGNC:50836 +HGNC:50274 MIR8070 microRNA 8070 non-coding RNA RNA, micro Approved 11p15.3 11p15.3 hsa-mir-8070 MicroRNAs 476 2014-03-24 2016-11-16 102465870 ENSG00000278529 NR_107037 MI0025906 HGNC:50274 +HGNC:50041 MIR8071-1 microRNA 8071-1 non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-8071-1 MicroRNAs 476 2014-03-24 2016-11-16 102465871 ENSG00000274172 NR_107038 MI0025907 HGNC:50041 +HGNC:49958 MIR8071-2 microRNA 8071-2 non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-8071-2 MicroRNAs 476 2014-03-24 2016-11-16 102466889 ENSG00000277030 NR_107059 MI0026417 HGNC:49958 +HGNC:50174 MIR8072 microRNA 8072 non-coding RNA RNA, micro Approved 12q24.31 12q24.31 hsa-mir-8072 MicroRNAs 476 2014-03-24 2016-11-16 102466877 ENSG00000284425 NR_107039 MI0025908 HGNC:50174 +HGNC:50131 MIR8073 microRNA 8073 non-coding RNA RNA, micro Approved 13q34 13q34 hsa-mir-8073 MicroRNAs 476 2014-03-24 2016-11-16 102465872 ENSG00000276765 NR_107040 MI0025909 HGNC:50131 +HGNC:50105 MIR8074 microRNA 8074 non-coding RNA RNA, micro Approved 19q13.41 19q13.41 hsa-mir-8074 MicroRNAs 476 2014-03-24 2016-11-16 102465873 ENSG00000278617 NR_107041 MI0025910 HGNC:50105 +HGNC:50172 MIR8075 microRNA 8075 non-coding RNA RNA, micro Approved 13q34 13q34 hsa-mir-8075 MicroRNAs 476 2014-03-24 2016-11-16 102465874 ENSG00000277942 NR_107042 MI0025911 HGNC:50172 +HGNC:49997 MIR8076 microRNA 8076 non-coding RNA RNA, micro Approved 3q13.2 03q13.2 hsa-mir-8076 MicroRNAs 476 2014-03-24 2016-11-16 102466253 ENSG00000275670 NR_107043 MI0025912 HGNC:49997 +HGNC:50266 MIR8077 microRNA 8077 non-coding RNA RNA, micro Approved 19q13.2 19q13.2 hsa-mir-8077 MicroRNAs 476 2014-03-24 2016-11-16 102465875 ENSG00000277533 NR_107044 MI0025913 HGNC:50266 +HGNC:50102 MIR8078 microRNA 8078 non-coding RNA RNA, micro Approved 18p11.32 18p11.32 hsa-mir-8078 MicroRNAs 476 2014-03-24 2016-11-16 102466878 ENSG00000277521 NR_107045 MI0025914 HGNC:50102 +HGNC:50021 MIR8079 microRNA 8079 non-coding RNA RNA, micro Approved 13q14.11 13q14.11 hsa-mir-8079 MicroRNAs 476 2014-03-24 2016-11-16 102465876 ENSG00000276319 NR_107046 MI0025915 HGNC:50021 +HGNC:49989 MIR8080 microRNA 8080 non-coding RNA RNA, micro Approved 2p12 02p12 hsa-mir-8080 MicroRNAs 476 2014-03-24 2016-11-16 102465877 ENSG00000276917 NR_107047 MI0025916 HGNC:49989 +HGNC:50123 MIR8081 microRNA 8081 non-coding RNA RNA, micro Approved 9q31.2 09q31.2 hsa-mir-8081 MicroRNAs 476 2014-03-24 2020-01-24 102465995 ENSG00000277889 NR_107048 MI0025917 HGNC:50123 +HGNC:50111 MIR8082 microRNA 8082 non-coding RNA RNA, micro Approved 4q25 04q25 hsa-mir-8082 MicroRNAs 476 2014-03-24 2016-11-16 102465878 ENSG00000275810 NR_107049 MI0025918 HGNC:50111 +HGNC:50211 MIR8083 microRNA 8083 non-coding RNA RNA, micro Approved 1q21.3 01q21.3 hsa-mir-8083 MicroRNAs 476 2014-03-24 2016-11-16 102466879 ENSG00000274940 NR_107050 MI0025919 HGNC:50211 +HGNC:50075 MIR8084 microRNA 8084 non-coding RNA RNA, micro Approved 8q22.1 08q22.1 hsa-mir-8084 MicroRNAs 476 2014-03-24 2016-11-16 102467005 ENSG00000277063 NR_107051 MI0025920 HGNC:50075 +HGNC:50120 MIR8085 microRNA 8085 non-coding RNA RNA, micro Approved 19q13.32 19q13.32 hsa-mir-8085 MicroRNAs 476 2014-03-24 2016-11-16 102465879 ENSG00000284258 NR_107052 MI0025921 HGNC:50120 +HGNC:50107 MIR8086 microRNA 8086 non-coding RNA RNA, micro Approved 10p12.1 10p12.1 hsa-mir-8086 MicroRNAs 476 2014-03-24 2016-11-16 102465880 ENSG00000275036 NR_107053 MI0025922 HGNC:50107 +HGNC:50059 MIR8087 microRNA 8087 non-coding RNA RNA, micro Approved 11p14.1 11p14.1 hsa-mir-8087 MicroRNAs 476 2014-03-24 2016-11-16 102465881 ENSG00000278483 NR_107054 MI0025923 HGNC:50059 +HGNC:50167 MIR8088 microRNA 8088 non-coding RNA RNA, micro Approved Xp11.22 Xp11.22 hsa-mir-8088 MicroRNAs 476 2014-03-24 2016-11-16 102466880 ENSG00000275335 NR_107055 MI0025924 HGNC:50167 +HGNC:50196 MIR8089 microRNA 8089 non-coding RNA RNA, micro Approved 5q35.3 05q35.3 hsa-mir-8089 MicroRNAs 476 2014-03-24 2015-02-09 102465882 ENSG00000277912 NR_107056 MI0025925 HGNC:50196 +HGNC:50839 MIR8485 microRNA 8485 non-coding RNA RNA, micro Approved 2p16.3 02p16.3 MicroRNAs 476 2014-06-26 2019-01-18 103504737 ENSG00000216191 NR_130470 MI0027288 HGNC:50839 +HGNC:50841 MIR9500 microRNA 9500 non-coding RNA RNA, micro Approved 2q35 02q35 MicroRNAs 476 2014-06-26 2016-11-16 103504730 ENSG00000283639 NR_128707 MI0029185 HGNC:50841 +HGNC:53988 MIR9718 microRNA 9718 non-coding RNA RNA, micro Approved 14q23.1 14q23.1 hsa-mir-9718 MicroRNAs 476 2018-09-14 2018-09-14 113218481 NR_162089 25019593 MI0030983 HGNC:53988 +HGNC:53989 MIR9851 microRNA 9851 non-coding RNA RNA, micro Approved 10q25.3 10q25.3 hsa-mir-9851 MicroRNAs 476 2018-09-14 2019-02-13 113218494 NR_162126 26473382 MI0039502 HGNC:53989 +HGNC:53990 MIR9898 microRNA 9898 non-coding RNA RNA, micro Approved 12q13.13 12q13.13 hsa-mir-9898 MicroRNAs 476 2018-09-14 2018-09-14 113218482 NR_162090 25049417 MI0031826 HGNC:53990 +HGNC:53991 MIR9899 microRNA 9899 non-coding RNA RNA, micro Approved 2q23.2 02q23.2 hsa-mir-9899 MicroRNAs 476 2018-09-14 2018-09-14 113218495 NR_162091 25049417 MI0031827 HGNC:53991 +HGNC:53992 MIR9900 microRNA 9900 non-coding RNA RNA, micro Approved 3q13.2 03q13.2 hsa-mir-9900 MicroRNAs 476 2018-09-14 2018-09-14 113218483 NR_162092 25049417 MI0031828 HGNC:53992 +HGNC:53993 MIR9901 microRNA 9901 non-coding RNA RNA, micro Approved 16p11.2 16p11.2 hsa-mir-9901 MicroRNAs 476 2018-09-14 2018-09-14 113218496 NR_162093 25049417 MI0031829 HGNC:53993 +HGNC:53994 MIR9902-1 microRNA 9902-1 non-coding RNA RNA, micro Approved 12q24.31 12q24.31 hsa-mir-9902-1 MicroRNAs 476 2018-09-14 2018-09-14 113218484 NR_162094 25049417 MI0031830 HGNC:53994 +HGNC:53995 MIR9902-2 microRNA 9902-2 non-coding RNA RNA, micro Approved 12q24.31 12q24.31 hsa-mir-9902-2 MicroRNAs 476 2018-09-14 2018-09-14 113218511 NR_162150 25049417 MI0041071 HGNC:53995 +HGNC:53996 MIR9903 microRNA 9903 non-coding RNA RNA, micro Approved 8q22.2 08q22.2 hsa-mir-9903 MicroRNAs 476 2018-09-14 2018-09-14 113218497 NR_162095 25049417 MI0031831 HGNC:53996 +HGNC:53997 MIR9983 microRNA 9983 non-coding RNA RNA, micro Approved 6p21.2 06p21.2 hsa-mir-9983 MicroRNAs 476 2018-09-14 2018-09-14 113218508 NR_162114 25822230 MI0033670 HGNC:53997 +HGNC:53998 MIR9985 microRNA 9985 non-coding RNA RNA, micro Approved Yp11.2 Yp11.2 hsa-mir-9985 MicroRNAs 476 2018-09-14 2018-09-14 113218498 NR_162096 25215888 MI0032313 HGNC:53998 +HGNC:53999 MIR9986 microRNA 9986 non-coding RNA RNA, micro Approved 2q21.2 02q21.2 hsa-mir-9986 MicroRNAs 476 2018-09-14 2018-09-14 113218485 NR_162099 25215888 MI0032316 HGNC:53999 +HGNC:54000 MIR10226 microRNA 10226 non-coding RNA RNA, micro Approved 17q21.32 17q21.32 hsa-mir-10226 MicroRNAs 476 2018-09-14 2018-09-14 113218499 NR_162100 25182173 MI0033056 HGNC:54000 +HGNC:54001 MIR10392 microRNA 10392 non-coding RNA RNA, micro Approved 11q13.1 11q13.1 hsa-mir-10392 MicroRNAs 476 2018-09-14 2018-09-14 113218486 NR_162101 25723320 MI0033416 HGNC:54001 +HGNC:54002 MIR10393 microRNA 10393 non-coding RNA RNA, micro Approved 15q21.1 15q21.1 hsa-mir-10393 MicroRNAs 476 2018-09-14 2018-09-14 113218500 NR_162102 25723320 MI0033417 HGNC:54002 +HGNC:54003 MIR10394 microRNA 10394 non-coding RNA RNA, micro Approved 19q13.43 19q13.43 hsa-mir-10394 MicroRNAs 476 2018-09-14 2018-09-14 113218487 NR_162103 25723320 MI0033418 HGNC:54003 +HGNC:54005 MIR10396A microRNA 10396a non-coding RNA RNA, micro Approved 21p11.2 21p11.2 hsa-mir-10396a MicroRNAs 476 2018-09-14 2018-09-14 113218501 NR_162105 25723320 MI0033420 HGNC:54005 +HGNC:54006 MIR10396B microRNA 10396b non-coding RNA RNA, micro Approved 21p11.2 21p11.2 hsa-mir-10396b MicroRNAs 476 2018-09-14 2018-09-14 113218488 NR_162111 25723320 MI0033426 HGNC:54006 +HGNC:54007 MIR10397 microRNA 10397 non-coding RNA RNA, micro Approved 5p15.2 05p15.2 hsa-mir-10397 MicroRNAs 476 2018-09-14 2018-09-14 113218502 NR_162106 25723320 MI0033421 HGNC:54007 +HGNC:54008 MIR10398 microRNA 10398 non-coding RNA RNA, micro Approved 6p21.1 06p21.1 hsa-mir-10398 MicroRNAs 476 2018-09-14 2018-09-14 113218489 NR_162107 25723320 MI0033422 HGNC:54008 +HGNC:54009 MIR10399 microRNA 10399 non-coding RNA RNA, micro Approved 7q34 07q34 hsa-mir-10399 MicroRNAs 476 2018-09-14 2018-09-14 113218503 NR_162108 25723320 MI0033423 HGNC:54009 +HGNC:54010 MIR10400 microRNA 10400 non-coding RNA RNA, micro Approved 8q24.3 08q24.3 hsa-mir-10400 MicroRNAs 476 2018-09-14 2018-09-14 113218512 NR_162109 25723320 MI0033424 HGNC:54010 +HGNC:54012 MIR10522 microRNA 10522 non-coding RNA RNA, micro Approved 5p15.1 05p15.1 hsa-mir-10522 MicroRNAs 476 2018-09-14 2018-09-14 113218490 NR_162112 25822230 MI0033668 HGNC:54012 +HGNC:54013 MIR10523 microRNA 10523 non-coding RNA RNA, micro Approved 5q35.1 05q35.1 hsa-mir-10523 MicroRNAs 476 2018-09-14 2018-09-14 113218510 NR_162113 25822230 MI0033669 HGNC:54013 +HGNC:54014 MIR10524 microRNA 10524 non-coding RNA RNA, micro Approved 6q14.1 06q14.1 hsa-mir-10524 MicroRNAs 476 2018-09-14 2018-09-14 113218491 NR_162115 25822230 MI0033671 HGNC:54014 +HGNC:54015 MIR10525 microRNA 10525 non-coding RNA RNA, micro Approved 7q11.23 07q11.23 hsa-mir-10525 MicroRNAs 476 2018-09-14 2018-09-14 113218504 NR_162116 25822230 MI0033672 HGNC:54015 +HGNC:54016 MIR10526 microRNA 10526 non-coding RNA RNA, micro Approved 11q24.1 11q24.1 hsa-mir-10526 MicroRNAs 476 2018-09-14 2018-09-14 113218492 NR_162117 25822230 MI0033673 HGNC:54016 +HGNC:54017 MIR10527 microRNA 10527 non-coding RNA RNA, micro Approved 12q14.2 12q14.2 hsa-mir-10527 MicroRNAs 476 2018-09-14 2018-09-14 113218505 NR_162118 25822230 MI0033674 HGNC:54017 +HGNC:54018 MIR11181 microRNA 11181 non-coding RNA RNA, micro Approved 15q25.3 15q25.3 hsa-mir-11181 MicroRNAs 476 2018-09-14 2018-09-14 113218493 NR_162119 25772499 MI0035972 HGNC:54018 +HGNC:54019 MIR11399 microRNA 11399 non-coding RNA RNA, micro Approved 1p13.2 01p13.2 hsa-mir-11399 MicroRNAs 476 2018-09-14 2018-09-14 113218506 NR_162120 25728006 MI0036558 HGNC:54019 +HGNC:54160 MIR11400 microRNA 11400 non-coding RNA RNA, micro Approved 7q34 07q34 hsa-mir-11400 MicroRNAs 476 2018-12-12 2018-12-12 113839523 NR_162121 25728006 MI0036559 HGNC:54160 +HGNC:54020 MIR11401 microRNA 11401 non-coding RNA RNA, micro Approved 16q24.2 16q24.2 hsa-mir-11401 MicroRNAs 476 2018-09-14 2018-09-14 113218509 NR_162122 25728006 MI0036560 HGNC:54020 +HGNC:54021 MIR12113 microRNA 12113 non-coding RNA RNA, micro Approved 4p15.33 04p15.33 hsa-mir-12113 MicroRNAs 476 2018-09-14 2018-09-14 113218507 NR_162127 28471449 MI0039715 HGNC:54021 +HGNC:54022 MIR12114 microRNA 12114 non-coding RNA RNA, micro Approved 22q13.33 22q13.33 hsa-mir-12114 MicroRNAs 476 2018-09-14 2018-09-14 113218480 NR_162128 28471449 MI0039716 HGNC:54022 +HGNC:54023 MIR12115 microRNA 12115 non-coding RNA RNA, micro Approved 4p15.2 04p15.2 hsa-mir-12115 MicroRNAs 476 2018-09-19 2018-09-19 113219450 NR_162129 28471449 MI0039717 HGNC:54023 +HGNC:54024 MIR12116 microRNA 12116 non-coding RNA RNA, micro Approved 1q25.2 01q25.2 hsa-mir-12116 MicroRNAs 476 2018-09-19 2018-09-19 113219451 NR_162130 28471449 MI0039718 HGNC:54024 +HGNC:54025 MIR12117 microRNA 12117 non-coding RNA RNA, micro Approved 9p21.1 09p21.1 hsa-mir-12117 MicroRNAs 476 2018-09-19 2018-09-19 113219452 NR_162131 28471449 MI0039719 HGNC:54025 +HGNC:54026 MIR12118 microRNA 12118 non-coding RNA RNA, micro Approved 5q35.2 05q35.2 hsa-mir-12118 MicroRNAs 476 2018-09-19 2018-09-19 113219469 NR_162132 28471449 MI0039720 HGNC:54026 +HGNC:54027 MIR12119 microRNA 12119 non-coding RNA RNA, micro Approved 7q22.1 07q22.1 hsa-mir-12119 MicroRNAs 476 2018-09-19 2018-09-19 113219453 NR_162133 28471449 MI0039721 HGNC:54027 +HGNC:54028 MIR12120 microRNA 12120 non-coding RNA RNA, micro Approved Yq11.221 Yq11.221 hsa-mir-12120 MicroRNAs 476 2018-09-19 2018-09-19 113219468 NR_162134 28471449 MI0039722 HGNC:54028 +HGNC:54029 MIR12121 microRNA 12121 non-coding RNA RNA, micro Approved 14q32.33 14q32.33 hsa-mir-12121 MicroRNAs 476 2018-09-19 2018-09-19 113219454 NR_162135 28471449 MI0039723 HGNC:54029 +HGNC:54030 MIR12122 microRNA 12122 non-coding RNA RNA, micro Approved 20q13.13 20q13.13 hsa-mir-12122 MicroRNAs 476 2018-09-19 2018-09-19 113219455 NR_162136 MI0039724 HGNC:54030 +HGNC:54031 MIR12123 microRNA 12123 non-coding RNA RNA, micro Approved 8q21.13 08q21.13 hsa-mir-12123 MicroRNAs 476 2018-09-19 2018-09-19 113219456 NR_162137 28471449 MI0039725 HGNC:54031 +HGNC:54032 MIR12124 microRNA 12124 non-coding RNA RNA, micro Approved 3q21.3 03q21.3 hsa-mir-12124 MicroRNAs 476 2018-09-19 2018-09-19 113219457 NR_162138 28471449 MI0039726 HGNC:54032 +HGNC:54033 MIR12125 microRNA 12125 non-coding RNA RNA, micro Approved 5q34 05q34 hsa-mir-12125 MicroRNAs 476 2018-09-19 2018-09-19 113219458 NR_162139 28471449 MI0039727 HGNC:54033 +HGNC:54034 MIR12126 microRNA 12126 non-coding RNA RNA, micro Approved 9q34.11 09q34.11 hsa-mir-12126 MicroRNAs 476 2018-09-19 2018-09-19 113219459 NR_162140 28471449 MI0039728 HGNC:54034 +HGNC:54035 MIR12127 microRNA 12127 non-coding RNA RNA, micro Approved 3p25.3 03p25.3 hsa-mir-12127 MicroRNAs 476 2018-09-19 2018-09-19 113219470 NR_162141 28471449 MI0039729 HGNC:54035 +HGNC:54036 MIR12128 microRNA 12128 non-coding RNA RNA, micro Approved 16q24.1 16q24.1 hsa-mir-12128 MicroRNAs 476 2018-09-19 2018-09-19 113219463 NR_162142 MI0039730 HGNC:54036 +HGNC:54037 MIR12129 microRNA 12129 non-coding RNA RNA, micro Approved Xq28 Xq28 hsa-mir-12129 MicroRNAs 476 2018-09-19 2018-09-19 113219460 NR_162143 28471449 MI0039731 HGNC:54037 +HGNC:54038 MIR12130 microRNA 12130 non-coding RNA RNA, micro Approved 5q23.1 05q23.1 hsa-mir-12130 MicroRNAs 476 2018-09-19 2018-09-19 113219464 NR_162144 28471449 MI0039732 HGNC:54038 +HGNC:54039 MIR12131 microRNA 12131 non-coding RNA RNA, micro Approved 6q25.1 06q25.1 hsa-mir-12131 MicroRNAs 476 2018-09-19 2018-09-19 113219461 NR_162145 28471449 MI0039733 HGNC:54039 +HGNC:54040 MIR12132 microRNA 12132 non-coding RNA RNA, micro Approved 1p31.3 01p31.3 hsa-mir-12132 MicroRNAs 476 2018-09-19 2018-09-19 113219465 NR_162146 MI0039734 HGNC:54040 +HGNC:54041 MIR12133 microRNA 12133 non-coding RNA RNA, micro Approved 1p21.3 01p21.3 hsa-mir-12133 MicroRNAs 476 2018-09-19 2018-09-19 113219466 NR_162147 28471449 MI0039735 HGNC:54041 +HGNC:54042 MIR12135 microRNA 12135 non-coding RNA RNA, micro Approved 15q24.1 15q24.1 hsa-mir-12135 MicroRNAs 476 2018-09-19 2018-09-19 113219462 NR_162148 28640911 MI0039739 HGNC:54042 +HGNC:54043 MIR12136 microRNA 12136 non-coding RNA RNA, micro Approved 1p36.33 01p36.33 hsa-mir-12136 MicroRNAs 476 2018-09-19 2018-09-19 113219467 NR_162149 28640911 MI0039740 HGNC:54043 +HGNC:31476 MIRLET7A1 microRNA let-7a-1 non-coding RNA RNA, micro Approved 9q22.32 09q22.32 hsa-let-7a-1 MIRNLET7A1 MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406881 ENSG00000199165 uc004aui.4 NR_029476 MGI:2676793 RGD:2325409 605386 MI0000060 HGNC:31476 +HGNC:53970 MIRLET7A1HG miRlet-7a-1/let-7f-1/let-7d cluster host gene non-coding RNA RNA, long non-coding Approved 9q22.32 09q22.32 MicroRNA non-coding host genes 1688 2018-07-18 2019-07-17 112903833 ENSG00000269929 NR_170274 +HGNC:31477 MIRLET7A2 microRNA let-7a-2 non-coding RNA RNA, micro Approved 11q24.1 11q24.1 hsa-let-7a-2 MIRNLET7A2 MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406882 ENSG00000198975 uc001pyg.4 NR_029477 MGI:3619049 612142 MI0000061 HGNC:31477 +HGNC:31478 MIRLET7A3 microRNA let-7a-3 non-coding RNA RNA, micro Approved 22q13.31 22q13.31 hsa-let-7a-3 MIRNLET7A3 MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406883 ENSG00000283990 uc021wrn.2 NR_029478 MGI:3619050 RGD:2325399 612143 MI0000062 HGNC:31478 +HGNC:31479 MIRLET7B microRNA let-7b non-coding RNA RNA, micro Approved 22q13.31 22q13.31 hsa-let-7b MIRNLET7B MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406884 ENSG00000284520 uc021wrq.1 NR_029479 MGI:2676794 RGD:2325607 611249 MI0000063 HGNC:31479 +HGNC:37189 MIRLET7BHG MIRLET7B host gene non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 linc-Ppara MIRLET7B host gene (non-protein coding) MicroRNA non-coding host genes 1688 2009-08-18 2015-02-20 2015-02-20 400931 ENSG00000197182 OTTHUMG00000150446 uc003bgu.4 NR_027033 "15364908|24381249" RGD:10398754 618216 HGNC:37189 +HGNC:31480 MIRLET7C microRNA let-7c non-coding RNA RNA, micro Approved 21q21.1 21q21.1 hsa-let-7c MIRNLET7C MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406885 ENSG00000199030 uc002yke.4 NR_029480 MGI:2676795 RGD:2325435 612144 MI0000064 HGNC:31480 +HGNC:31481 MIRLET7D microRNA let-7d non-coding RNA RNA, micro Approved 9q22.32 09q22.32 hsa-let-7d MIRNLET7D MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406886 ENSG00000199133 uc004aul.3 NR_029481 MGI:2676796 RGD:2325622 612145 MI0000065 HGNC:31481 +HGNC:31482 MIRLET7E microRNA let-7e non-coding RNA RNA, micro Approved 19q13.41 19q13.41 hsa-let-7e MIRNLET7E MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406887 ENSG00000198972 uc002pxi.4 NR_029482 MGI:2676797 611250 MI0000066 HGNC:31482 +HGNC:31483 MIRLET7F1 microRNA let-7f-1 non-coding RNA RNA, micro Approved 9q22.32 09q22.32 hsa-let-7f-1 MIRNLET7F1 MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406888 ENSG00000199072 uc004auj.4 NR_029483 MGI:2676798 612146 MI0000067 HGNC:31483 +HGNC:31484 MIRLET7F2 microRNA let-7f-2 non-coding RNA RNA, micro Approved Xp11.22 Xp11.22 hsa-let-7f-2 MIRNLET7F2 MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406889 ENSG00000208012 uc004dss.2 NR_029484 MGI:2676799 RGD:2325605 300721 MI0000068 HGNC:31484 +HGNC:31485 MIRLET7G microRNA let-7g non-coding RNA RNA, micro Approved 3p21.2 03p21.2 hsa-let-7g MIRNLET7G MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406890 ENSG00000199150 uc011bee.3 NR_029660 MGI:2676800 RGD:9685094 612102 MI0000433 HGNC:31485 +HGNC:31486 MIRLET7I microRNA let-7i non-coding RNA RNA, micro Approved 12q14.1 12q14.1 hsa-let-7i MIRNLET7I MicroRNA MIRLET7 family 1697 2004-04-23 2008-12-18 2019-01-18 406891 ENSG00000199179 uc001srj.3 NR_029661 MGI:2676802 RGD:2325604 612148 MI0000434 HGNC:31486 +HGNC:55478 MIRLET7IHG MIRLET7I host gene non-coding RNA RNA, long non-coding Approved 12q14.1 12q14.1 MicroRNA non-coding host genes 1688 2021-03-11 2021-03-11 120766144 ENSG00000257354 XR_007063342 +HGNC:24967 MIS12 MIS12 kinetochore complex component protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "MGC2488|hMIS12|KNTC2AP|MTW1" "MIS12, MIND kinetochore complex component, homolog (yeast)|MIS12, MIND kinetochore complex component, homolog (S. pombe)" MIS12 kinetochore complex 1322 2004-07-29 2019-01-25 2019-01-25 79003 ENSG00000167842 OTTHUMG00000102042 uc031qyh.2 AL136906 NM_024039 CCDS11074 Q9H081 "11230166|12515822" MGI:1914389 RGD:1564837 609178 HGNC:24967 "ENST00000611091.5|NM_001258217.2" +HGNC:1286 MIS18A MIS18 kinetochore protein A protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B28|FASP1|hMis18alpha" "C21orf46|C21orf45" "chromosome 21 open reading frame 46|chromosome 21 open reading frame 45|MIS18 kinetochore protein homolog A (S. pombe)" 2000-05-23 2011-02-23 2013-10-21 2020-09-17 54069 ENSG00000159055 OTTHUMG00000085308 uc002ypi.4 AF231921 NM_018944 CCDS13611 Q9NYP9 17199038 MGI:1913828 RGD:1310778 618137 HGNC:1286 "ENST00000290130.4|NM_018944.3" +HGNC:40106 MIS18A-AS1 MIS18A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 MIS18A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100874202 ENSG00000227256 OTTHUMG00000085306 uc061znb.1 BG209386 NR_046576 MIS18A-AS1 +HGNC:20190 MIS18BP1 MIS18 binding protein 1 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 "M18BP1|FLJ11186|KIAA1903|KNL2" kinetochore null 2 homolog (C. elegans) C14orf106 chromosome 14 open reading frame 106 Myb/SANT domain containing 532 2002-12-20 2011-02-23 2011-02-23 2016-10-05 55320 ENSG00000129534 OTTHUMG00000140266 uc001wwf.3 AB067490 NM_018353 CCDS9684 Q6P0N0 "17339379|17199038" MGI:2145099 RGD:1594757 618139 HGNC:20190 "ENST00000310806.9|NM_018353.5" +HGNC:27000 MISP mitotic spindle positioning protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "DKFZp686H18209|Caprice|MISP1" mitotic interactor and substrate of Plk1 C19orf21 chromosome 19 open reading frame 21 2004-03-16 2013-05-03 2013-05-03 2016-07-08 126353 ENSG00000099812 OTTHUMG00000181786 BC052236 NM_173481 CCDS12042 Q8IVT2 "23574715|23509069|24475924" MGI:1926156 RGD:1595680 615289 HGNC:27000 "ENST00000215582.8|NM_173481.4" +HGNC:26963 MISP3 MISP family member 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 MicroRNA protein coding host genes 1691 2016-07-08 2016-07-08 113230 ENSG00000141854 OTTHUMG00000181994 NM_001291291 CCDS77246 Q96FF7 23509069 MGI:1917384 RGD:1310262 HGNC:26963 "ENST00000587086.3|NM_001291291.2" +HGNC:25207 MITD1 microtubule interacting and trafficking domain containing 1 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 LOC129531 MIT, microtubule interacting and transport, domain containing 1 2006-07-14 2015-11-05 2015-11-05 129531 ENSG00000158411 OTTHUMG00000130638 uc002szs.2 BC018453 NM_138798 CCDS2040 Q8WV92 16730941 MGI:1916278 RGD:1307700 HGNC:25207 "ENST00000289359.6|NM_138798.3" +HGNC:7105 MITF melanocyte inducing transcription factor protein-coding gene gene with protein product Approved 3p13 03p13 "MI|bHLHe32" homolog of mouse microphthalmia "WS2A|WS2" "Waardenburg syndrome, type 2A|microphthalmia-associated transcription factor|melanogenesis associated transcription factor" Basic helix-loop-helix proteins 420 1993-10-27 2018-09-27 2021-05-26 4286 ENSG00000187098 OTTHUMG00000149921 uc003dof.4 NM_198159 "CCDS46866|CCDS74962|CCDS43106|CCDS2913|CCDS46865|CCDS87108|CCDS54607|CCDS43107" O75030 "8069297|7874167|7951321" MGI:104554 RGD:3092 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MITF|LRG_776|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_776.xml" MITF 156845 123243 HGNC:7105 "ENST00000352241.9|NM_001354604.2" HGNC:7105 +HGNC:31136 MIX23 mitochondrial matrix import factor 23 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 FLJ33273 CCDC58 coiled-coil domain containing 58 2006-01-17 2020-10-30 2020-10-30 2020-10-30 131076 ENSG00000160124 OTTHUMG00000159490 uc003eey.4 AK090592 NM_001017928 "CCDS77802|CCDS33838" Q4VC31 32826315 MGI:2146423 RGD:1564582 HGNC:31136 "ENST00000291458.9|NM_001017928.4" +HGNC:32457 MIX23P1 MIX23 pseudogene 1 pseudogene pseudogene Approved 18p11.22 18p11.22 CCDC58P1 coiled-coil domain containing 58 pseudogene 1 2006-01-17 2020-10-30 2020-10-30 2020-10-30 645859 ENSG00000264311 OTTHUMG00000178563 AP001180 NG_009486 PGOHUM00000294582 HGNC:32457 +HGNC:45025 MIX23P2 MIX23 pseudogene 2 pseudogene pseudogene Approved 10q11.23 10q11.23 CCDC58P2 coiled-coil domain containing 58 pseudogene 2 2013-01-08 2020-10-30 2020-10-30 2020-10-30 100287708 ENSG00000236944 OTTHUMG00000018242 NG_029973 PGOHUM00000238492 HGNC:45025 +HGNC:45026 MIX23P3 MIX23 pseudogene 3 pseudogene pseudogene Approved 18p11.21 18p11.21 CCDC58P3 coiled-coil domain containing 58 pseudogene 3 2013-01-08 2020-10-30 2020-10-30 2020-10-30 732448 ENSG00000267076 OTTHUMG00000180719 NG_030064 PGOHUM00000234999 HGNC:45026 +HGNC:45027 MIX23P4 MIX23 pseudogene 4 pseudogene pseudogene Approved 3p22.1 03p22.1 CCDC58P4 coiled-coil domain containing 58 pseudogene 4 2013-01-08 2020-10-30 2020-10-30 2020-10-30 106632269 NG_042875 PGOHUM00000237601 HGNC:45027 +HGNC:45028 MIX23P5 MIX23 pseudogene 5 pseudogene pseudogene Approved 11q13.4 11q13.4 CCDC58P5 coiled-coil domain containing 58 pseudogene 5 2013-01-08 2020-10-30 2020-10-30 2020-10-30 100420588 ENSG00000256681 OTTHUMG00000168060 NG_024383 PGOHUM00000242363 HGNC:45028 +HGNC:13363 MIXL1 Mix paired-like homeobox protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "MILD1|MIXL" "Mix1 homeobox (Xenopus laevis)-like 1|Mix1 homeobox-like 1 (Xenopus laevis)" PRD class homeoboxes and pseudogenes 521 2002-11-11 2011-06-01 2014-11-19 83881 ENSG00000185155 OTTHUMG00000037558 uc010pvm.4 AF211891 NM_001282402 "CCDS1552|CCDS60432" Q9H2W2 "12095687|12070013" MGI:1351322 RGD:1310011 609852 8466 HGNC:13363 "ENST00000366810.6|NM_031944.3" +HGNC:7107 MKI67 marker of proliferation Ki-67 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 "MIB-1|PPP1R105|Ki-67" "protein phosphatase 1, regulatory subunit 105|Molecular Immunology Borstel antibody 1" antigen identified by monoclonal antibody Ki-67 Protein phosphatase 1 regulatory subunits 694 1990-05-29 2013-10-10 2021-11-25 4288 ENSG00000148773 OTTHUMG00000019255 uc001lke.4 X65550 NM_002417 "CCDS53588|CCDS7659" P46013 "2571566|16206250" MGI:106035 RGD:1305476 176741 HGNC:7107 "ENST00000368654.8|NM_002417.5" +HGNC:49230 MKI67P1 marker of proliferation Ki-67 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 antigen identified by monoclonal antibody Ki-67 pseudogene 1 2013-10-10 2013-10-10 2016-10-05 100271918 ENSG00000270499 OTTHUMG00000185006 NG_011647 PGOHUM00000241265 HGNC:49230 +HGNC:7108 MKKS MKKS centrosomal shuttling protein protein-coding gene gene with protein product Approved 20p12.2 20p12.2 BBS6 McKusick-Kaufman syndrome Chaperonins 587 1998-09-08 2021-03-19 2021-03-19 8195 ENSG00000125863 OTTHUMG00000031868 uc002wnu.3 AF221993 NM_001394148 CCDS13111 Q9NPJ1 9467007 MGI:1891836 RGD:1308814 Mutations of the McKusick-Kaufman Gene|http://www.retina-international.org/files/sci-news/mkksmut.htm 604896 123245 HGNC:7108 "ENST00000347364.7|NM_170784.3" HGNC:7108 +HGNC:7109 MKLN1 muskelin 1 protein-coding gene gene with protein product Approved 7q32.3 07q32.3 TWA2 muskelin 1, intracellular mediator containing kelch motifs CTLH complex 1561 1998-07-15 2015-11-23 2016-10-05 4289 ENSG00000128585 OTTHUMG00000154880 uc064ibt.1 AF047489 NM_013255 CCDS34754 Q9UL63 10640805 MGI:1351638 RGD:620076 605623 HGNC:7109 "ENST00000352689.11|NM_013255.5" +HGNC:40374 MKLN1-AS MKLN1 antisense RNA non-coding RNA RNA, long non-coding Approved 7q32.3 07q32.3 MKLN1-AS2 MKLN1 antisense RNA 2 Antisense RNAs 1987 2013-07-23 2013-10-10 2013-10-10 2014-11-18 100506881 ENSG00000236753 OTTHUMG00000154998 "AK054623|DB039005" NR_125364 MKLN1-AS HGNC:40374 +HGNC:7110 MKNK1 MAPK interacting serine/threonine kinase 1 protein-coding gene gene with protein product Approved 1p33 01p33 MNK1 MAP kinase interacting serine/threonine kinase 1 MAPK activated protein kinases 1156 1999-03-04 2019-04-12 2019-04-12 8569 ENSG00000079277 OTTHUMG00000007983 uc001cqb.5 AB000409 NM_003684 "CCDS538|CCDS30705|CCDS44134" Q9BUB5 9155018 MGI:894316 RGD:1559603 606724 objectId:2104 HGNC:7110 "ENST00000371945.10|NM_001135553.4" +HGNC:44129 MKNK1-AS1 MKNK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p33 01p33 MKNK1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507423 ENSG00000269956 OTTHUMG00000184075 uc021onb.1 AK097731 NR_038403 MKNK1-AS1 HGNC:44129 +HGNC:7111 MKNK2 MAPK interacting serine/threonine kinase 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MNK2 Putative map kinase interacting kinase GPRK7 "G protein-coupled receptor kinase 7|MAP kinase interacting serine/threonine kinase 2" MAPK activated protein kinases 1156 2000-02-29 2019-04-12 2019-04-12 2872 ENSG00000099875 OTTHUMG00000180020 uc002lus.3 AF125532 NM_199054 "CCDS12080|CCDS12079" Q9HBH9 11013076 MGI:894279 RGD:1305728 605069 objectId:2105 HGNC:7111 "ENST00000250896.9|NM_199054.3" +HGNC:44970 MKNK2P1 MAP kinase interacting serine/threonine kinase 2 pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 2012-12-20 2012-12-20 389948 ENSG00000233533 OTTHUMG00000017966 NG_022142 PGOHUM00000238408 HGNC:44970 +HGNC:7112 MKRN1 makorin ring finger protein 1 protein-coding gene gene with protein product Approved 7q34 07q34 RNF61 Ring finger proteins 58 1999-10-19 2008-08-13 2019-09-12 23608 ENSG00000133606 OTTHUMG00000157412 uc003vvt.2 AF192784 NM_013446 "CCDS47725|CCDS5860" Q9UHC7 10843807 MGI:1859353 RGD:1303251 607754 2.3.2.27 HGNC:7112 "ENST00000255977.7|NM_013446.4" +HGNC:7113 MKRN2 makorin ring finger protein 2 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "RNF62|HSPC070" Ring finger proteins 58 1999-10-19 2008-08-13 2016-10-05 23609 ENSG00000075975 OTTHUMG00000155371 uc003bxd.5 NM_014160 "CCDS33702|CCDS63545" Q9H000 11597136 MGI:1914277 RGD:1310618 608426 470672 HGNC:7113 "ENST00000170447.12|NM_014160.5" +HGNC:40375 MKRN2OS MKRN2 opposite strand protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "MKRN2-AS1|C3orf83" "MKRN2 antisense RNA 1|chromosome 3 open reading frame 83" 2011-07-28 2014-05-22 2014-05-22 2020-04-20 100129480 ENSG00000225526 OTTHUMG00000155368 NM_001195279 CCDS58816 H3BPM6 MGI:1917541 RGD:2320714 HGNC:40375 "ENST00000564146.4|NM_001195279.2" +HGNC:7114 MKRN3 makorin ring finger protein 3 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "RNF63|ZFP127|MGC88288" zinc finger protein 127 "ZNF127|D15S9" Ring finger proteins 58 1992-11-06 2008-08-13 2021-05-26 7681 ENSG00000179455 OTTHUMG00000129160 uc001ywh.5 U19107 NM_005664 CCDS10013 Q13064 10196367 MGI:2181178 RGD:1311197 LRG_1045|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1045.xml 603856 360230 HGNC:7114 "ENST00000314520.6|NM_005664.4" HGNC:7114 +HGNC:7115 MKRN4P makorin ring finger protein 4, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 "ZNF-Xp|RNF64" "ZNF127L1|MKRN4|MKRNP5" "makorin, ring finger protein, 4|makorin ring finger protein pseudogene 5" Ring finger proteins 58 1992-11-06 2010-02-04 2010-02-04 2021-10-07 7682 ENSG00000238222 OTTHUMG00000024109 U41315 NG_004713 Q13434 MGI:1859353 HGNC:7115 +HGNC:7117 MKRN5P makorin ring finger protein 5, pseudogene pseudogene pseudogene Approved Xq13.2 Xq13.2 ZNF-Xq "ZNF127L2|MKRNP1" makorin ring finger protein pseudogene 1 Ring finger proteins 58 1992-11-06 2010-02-04 2010-02-04 2012-02-29 7683 ENSG00000224430 OTTHUMG00000021846 U41316 NG_000873 PGOHUM00000241395 HGNC:7117 +HGNC:7118 MKRN6P makorin ring finger protein 6, pseudogene pseudogene pseudogene Approved 6p21.31 06p21.31 MKRNP2 makorin ring finger protein pseudogene 2 Ring finger proteins 58 1999-10-19 2010-02-04 2010-02-04 2020-04-07 23610 ENSG00000227154 OTTHUMG00000014568 NG_002786 HGNC:7118 +HGNC:7119 MKRN7P makorin ring finger protein 7, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 "ZNF127L5|MKRNP3" makorin ring finger protein pseudogene 3 Ring finger proteins 58 1992-11-06 2010-02-04 2010-02-04 2016-07-25 7686 ENSG00000225849 OTTHUMG00000032649 NR_026640 PGOHUM00000297012 HGNC:7119 +HGNC:7120 MKRN8P makorin ring finger protein 8, pseudogene pseudogene pseudogene Approved 1p34.2 01p34.2 LOC391033 "ZNF127L4|MKRNP4" makorin ring finger protein pseudogene 4 Ring finger proteins 58 1992-11-06 2010-02-04 2010-02-04 2020-04-07 391033 ENSG00000237090 OTTHUMG00000007624 NG_009613 PGOHUM00000295641 HGNC:7120 +HGNC:7116 MKRN9P makorin ring finger protein 9, pseudogene pseudogene pseudogene Approved 12q21.32 12q21.32 "MKRN9|RNF65" "ZNF127L3|MKRN5|MKRNP6" "makorin ring finger protein 5|makorin ring finger protein pseudogene 6" Ring finger proteins 58 1992-11-06 2010-02-04 2010-02-04 2017-10-30 400058 ENSG00000258128 OTTHUMG00000169865 BC067894 NG_004764 Q6NVV0 PGOHUM00000291423 HGNC:7116 +HGNC:7121 MKS1 MKS transition zone complex subunit 1 protein-coding gene gene with protein product Approved 17q22 17q22 "FLJ20345|POC12|BBS13" POC12 centriolar protein homolog (Chlamydomonas) MKS Meckel syndrome, type 1 "B9 domain containing|MKS complex" "1535|1545" 1995-11-07 2019-01-17 2021-05-26 54903 ENSG00000011143 OTTHUMG00000133714 uc002ivr.3 DQ185029 NM_017777 "CCDS11603|CCDS82170" Q9NXB0 "7550354|16415886|28291807" MGI:3584243 RGD:1565186 LRG_687|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_687.xml 609883 123253 HGNC:7121 "ENST00000393119.7|NM_017777.4" HGNC:7121 +HGNC:23729 MKX mohawk homeobox protein-coding gene gene with protein product Approved 10p12.1 10p12.1 MGC39616 "C10orf48|IRXL1" "chromosome 10 open reading frame 48|iroquois homeobox protein-like 1" TALE class homeoboxes and pseudogenes 526 2003-12-09 2006-03-31 2006-03-31 2014-11-19 283078 ENSG00000150051 OTTHUMG00000017862 uc001itx.5 BC036207 NM_173576 CCDS7156 Q8IYA7 16408284 MGI:2687286 RGD:1305652 601332 8382 HGNC:23729 "ENST00000419761.6|NM_173576.3" +HGNC:50686 MKX-AS1 MKX antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Antisense RNAs 1987 2014-06-05 2014-06-05 101929202 ENSG00000230500 OTTHUMG00000017863 BU195543 NR_121652 MKX-AS1 HGNC:50686 +HGNC:7124 MLANA melan-A protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "MART1|MART-1" 1994-08-29 2021-10-18 2315 ENSG00000120215 OTTHUMG00000019510 uc003zjo.2 NM_005511 CCDS6466 Q16655 12191019 MGI:108454 RGD:1306525 605513 HGNC:7124 "ENST00000381477.8|NM_005511.2" +HGNC:17082 MLC1 modulator of VRAC current 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "MLC|KIAA0027|LVM|VL" megalencephalic leukoencephalopathy with subcortical cysts 1 2002-04-30 2019-03-14 2021-05-26 23209 ENSG00000100427 OTTHUMG00000150236 uc003bjh.2 D25217 NM_015166 CCDS14083 Q15049 "30076890|7584026|7584028|26908604" MGI:2157910 RGD:1308552 605908 123257 HGNC:17082 "ENST00000311597.10|NM_015166.4" HGNC:17082 +HGNC:28973 MLEC malectin protein-coding gene gene with protein product Approved 12q24.31 12q24.31 oligosaccharyltransferase complex subunit (non-catalytic) KIAA0152 KIAA0152 2005-01-17 2008-11-05 2008-11-05 2016-03-01 9761 ENSG00000110917 OTTHUMG00000169187 uc001tyy.2 BC000371 NM_014730 "CCDS76609|CCDS9206" Q14165 "18524852|22988243" MGI:1924015 RGD:1307736 613802 HGNC:28973 "ENST00000228506.8|NM_014730.4" +HGNC:51122 MLECP1 malectin pseudogene 1 pseudogene pseudogene Approved 18q12.3 18q12.3 2014-07-30 2014-07-30 106480317 ENSG00000277899 OTTHUMG00000187945 NG_044402 PGOHUM00000294773 HGNC:51122 +HGNC:7125 MLF1 myeloid leukemia factor 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 1994-08-29 2022-01-28 4291 ENSG00000178053 OTTHUMG00000158775 uc003fcb.4 L49054 NM_022443 "CCDS56287|CCDS56288|CCDS46945|CCDS3182" P58340 "8570204|28137643" MGI:1341819 RGD:1306854 LRG_1388|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1388.xml MLF1 601402 HGNC:7125 "ENST00000466246.7|NM_001369783.1" +HGNC:55620 MLF1-DT MLF1 divergent transcript non-coding RNA RNA, long non-coding Approved 3q25.32 03q25.32 Divergent transcripts 1990 2021-06-21 2021-06-21 100996447 ENSG00000243150 NR_104147 +HGNC:7126 MLF2 myeloid leukemia factor 2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 NTN4 1999-06-02 2019-01-14 8079 ENSG00000089693 OTTHUMG00000168717 uc009zey.2 U57342 NM_001382225 CCDS8559 Q15773 8661158 MGI:1353554 RGD:1306294 601401 HGNC:7126 "ENST00000203630.10|NM_001382226.1" +HGNC:7127 MLH1 mutL homolog 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "HNPCC|FCC2|HNPCC2|MLH-1" COCA2 "mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)|mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)" MutL homologs 1027 1993-11-24 2013-09-12 2022-02-09 4292 ENSG00000076242 OTTHUMG00000130797 uc003cgl.4 U07418 NM_000249 "CCDS54563|CCDS2663|CCDS54562" P40692 7903889 MGI:101938 RGD:620937 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MLH1|MLH1 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=MLH1|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/MLH1|LRG_216|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_216.xml" MLH1 120436 123263 HGNC:7127 "ENST00000231790.8|NM_000249.4" HGNC:7127 +HGNC:7128 MLH3 mutL homolog 3 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "mutL (E. coli) homolog 3|mutL homolog 3 (E. coli)" MutL homologs 1027 2000-01-07 2013-09-12 2021-04-13 27030 ENSG00000119684 OTTHUMG00000171766 uc001xre.2 AF195657 NM_014381 "CCDS9837|CCDS32123" Q9UHC1 10615123 MGI:1353455 RGD:1309227 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MLH3|MLH3 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=MLH3|LRG_217|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_217.xml" 604395 123269 HGNC:7128 "ENST00000355774.7|NM_001040108.2" HGNC:7128 +HGNC:21355 MLIP muscular LMNA interacting protein protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "MGC18257|CIP" "muscle-enriched A-type lamin interacting protein|cardiac ISL1-interacting protein" C6orf142 chromosome 6 open reading frame 142 2003-06-09 2011-04-29 2016-08-10 2016-10-05 90523 ENSG00000146147 OTTHUMG00000014891 uc003pcg.4 AK055530 NM_138569 "CCDS64449|CCDS64448|CCDS4954" Q5VWP3 21498514 MGI:1916892 RGD:1590513 614106 HGNC:21355 "ENST00000502396.6|NM_001281747.2" +HGNC:40963 MLIP-AS1 MLIP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 MLIP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-04 2012-08-15 2014-11-19 100873951 ENSG00000235050 OTTHUMG00000014889 uc063pdg.1 NR_046710 MLIP-AS1 HGNC:40963 +HGNC:41461 MLIP-IT1 MLIP intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 MLIP intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-04 2015-02-25 2015-02-25 100874282 ENSG00000236996 OTTHUMG00000014890 uc031soy.1 NR_046832 MLIP-IT1 HGNC:41461 +HGNC:26617 MLKL mixed lineage kinase domain like pseudokinase protein-coding gene gene with protein product Approved 16q23.1 16q23.1 FLJ34389 mixed lineage kinase domain-like 2005-02-10 2016-10-19 2020-04-01 197259 ENSG00000168404 OTTHUMG00000177356 uc002fdb.3 AK091708 NM_152649 "CCDS32487|CCDS45528" Q8NB16 26337687 MGI:1921818 RGD:1592221 615153 objectId:2106 HGNC:26617 "ENST00000308807.12|NM_152649.4" +HGNC:7134 MLLT1 MLLT1 super elongation complex subunit protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ENL|LTG19|YEATS1" myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1 "Super elongation complex|YEATS domain containing" "1280|1283" 1993-02-02 2019-01-22 2019-01-22 4298 ENSG00000130382 OTTHUMG00000180757 uc002mek.4 NM_005934 CCDS12160 Q03111 MGI:1927238 RGD:1588581 MLLT1 159556 objectId:3183 HGNC:7134 "ENST00000252674.9|NM_005934.4" +HGNC:7136 MLLT3 MLLT3 super elongation complex subunit protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "AF-9|AF9|YEATS3" myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3 "Super elongation complex|YEATS domain containing|MicroRNA protein coding host genes" "1280|1283|1691" 1993-04-08 2019-01-22 2019-01-22 4300 ENSG00000171843 OTTHUMG00000019650 uc003zoe.3 L13744 NM_004529 "CCDS6494|CCDS69579" P42568 "8506309|8414510" MGI:1917372 RGD:620940 MLLT3 159558 409859 HGNC:7136 "ENST00000380338.9|NM_004529.4" +HGNC:7138 MLLT6 MLLT6, PHD finger containing protein-coding gene gene with protein product Approved 17q12 17q12 "AF17|FLJ23480" "Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6|trithorax homolog" "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6|MLLT6, PHD finger domain containing" "PHD finger proteins|MicroRNA protein coding host genes" "88|1691" 1994-12-14 2017-05-12 2017-05-12 4302 ENSG00000275023 OTTHUMG00000188498 uc002hqi.5 NM_005937 CCDS11327 P55198 "8058765|21546577" MGI:1935145 RGD:1306689 MLLT6 600328 HGNC:7138 "ENST00000621332.5|NM_005937.4" +HGNC:16063 MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor protein-coding gene gene with protein product Approved 10p12.31 10p12.31 AF10 "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10" PHD finger proteins 88 2001-07-16 2019-01-22 2019-01-22 8028 ENSG00000078403 OTTHUMG00000017799 uc001iqs.4 U13948 NM_001195626 "CCDS55706|CCDS7135|CCDS55708|CCDS55707" P55197 "7888665|26439302" MGI:1329038 RGD:1310874 MLLT10 602409 358705 HGNC:16063 "ENST00000307729.12|NM_001195626.3" +HGNC:15794 MLLT10P1 MLLT10 pseudogene 1 pseudogene pseudogene Approved 20q11.21 20q11.21 bA348I14.3 MLLT10L "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10-like|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10-like|myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 pseudogene 1|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10 pseudogene 1" 2001-09-17 2010-10-20 2019-01-22 2019-01-22 140678 ENSG00000238151 OTTHUMG00000032156 AL441988 NR_045115 PGOHUM00000247503 HGNC:15794 +HGNC:39141 MLLT10P2 MLLT10 pseudogene 2 pseudogene pseudogene Approved 4q35.2 04q35.2 "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 pseudogene 2|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10 pseudogene 2" 2010-10-20 2019-01-22 2019-01-22 106480724 ENSG00000249462 OTTHUMG00000161001 NG_045070 PGOHUM00000245795 HGNC:39141 +HGNC:16997 MLLT11 MLLT11 transcription factor 7 cofactor protein-coding gene gene with protein product Approved 1q21.3 01q21.3 AF1Q ALL1 fused gene from chromosome 1q "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11|myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11" 2005-05-23 2019-01-22 2019-01-22 10962 ENSG00000213190 OTTHUMG00000035160 uc001ewq.4 BC006471 NM_006818 CCDS982 Q13015 "7833468|26079538" MGI:1929671 RGD:1305525 MLLT11 604684 HGNC:16997 "ENST00000368921.5|NM_006818.4" +HGNC:7141 MLN motilin protein-coding gene gene with protein product Approved 6p21.31 06p21.31 prepromotilin Neuropeptides 1902 1988-08-05 2014-11-19 4295 ENSG00000096395 OTTHUMG00000014536 uc003off.2 NM_001040109 "CCDS47412|CCDS54993|CCDS4786" P12872 RGD:1642907 158270 ligandId:5376 HGNC:7141 "ENST00000430124.7|NM_002418.3" +HGNC:4495 MLNR motilin receptor protein-coding gene gene with protein product Approved 13q14.2 13q14.2 GPR38 G protein-coupled receptor 38 Peptide receptors 220 1997-08-28 2004-05-28 2004-05-27 2016-10-05 2862 ENSG00000102539 OTTHUMG00000016909 uc010tgj.2 AF034632 NM_001507 CCDS9414 O43193 9441746 602885 objectId:297 HGNC:4495 "ENST00000218721.1|NM_001507.1" +HGNC:29643 MLPH melanophilin protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "l1Rk3|l(1)-3Rk|Slac-2a|ln|exophilin-3" MicroRNA protein coding host genes 1691 2004-01-09 2021-04-13 79083 ENSG00000115648 OTTHUMG00000133298 uc002vwt.5 AY358857 NM_024101 "CCDS63172|CCDS2518|CCDS42836|CCDS63173" Q9BV36 "11980908|11504925" MGI:2176380 RGD:1310733 "MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3)|http://structure.bmc.lu.se/idbase/MLPHbase/|LRG_83|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_83.xml" 606526 123279 HGNC:29643 "ENST00000264605.8|NM_024101.7" HGNC:29643 +HGNC:24825 MLST8 MTOR associated protein, LST8 homolog protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Lst8|Pop3|GBL|GbetaL" G protein beta subunit like MTOR associated protein, LST8 homolog (S. cerevisiae) "WD repeat domain containing|MTOR complex 1|MTOR complex 2" "362|1332|1333" 2009-05-29 2015-06-26 2018-06-04 64223 ENSG00000167965 OTTHUMG00000128827 uc002cpc.4 NM_022372 "CCDS58409|CCDS10462" Q9BVC4 25906254 MGI:1929514 RGD:69242 612190 HGNC:24825 "ENST00000569417.6|NM_022372.6" +HGNC:11645 MLX MAX dimerization protein MLX protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "MAD7|MXD7|bHLHd13" TCFL4 "transcription factor-like 4|MAX-like protein X" "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 1997-10-10 2005-02-11 2019-01-21 2020-04-01 6945 ENSG00000108788 OTTHUMG00000180246 uc002iag.4 AF213668 NM_170607 "CCDS45687|CCDS42341|CCDS11430" Q9UH92 8973301 MGI:108398 RGD:1308590 602976 360280 HGNC:11645 "ENST00000435881.7|NM_198204.2" +HGNC:17055 MLXIP MLX interacting protein protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "MONDOA|KIAA0867|MIR|bHLHe36" Basic helix-loop-helix proteins 420 2005-10-31 2019-08-12 22877 ENSG00000175727 OTTHUMG00000168953 uc001ubq.4 AB020674 NM_014938 CCDS73540 Q9HAP2 "10048485|11073985" MGI:2141183 RGD:1560774 608090 HGNC:17055 "ENST00000319080.12|NM_014938.6" +HGNC:12744 MLXIPL MLX interacting protein like protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WS-bHLH|MIO|CHREBP|MONDOB|bHLHd14" carbohydrate response element binding protein WBSCR14 "Williams Beuren syndrome chromosome region 14|MLX interacting protein-like" Basic helix-loop-helix proteins 420 2000-01-20 2005-10-31 2016-03-14 2016-03-14 51085 ENSG00000009950 OTTHUMG00000129995 uc003tyn.1 AK055029 NM_032951 "CCDS5553|CCDS5554|CCDS47606|CCDS47605" Q9NP71 9860302 MGI:1927999 RGD:620400 605678 HGNC:12744 "ENST00000313375.8|NM_032951.3" +HGNC:54600 MLXP1 MLX pseudogene 1 pseudogene pseudogene Approved 2q36.1 02q36.1 2019-10-16 2019-10-16 646696 ENSG00000226539 NG_021603 +HGNC:7150 MLYCD malonyl-CoA decarboxylase protein-coding gene gene with protein product Approved 16q23.3 16q23.3 "MCD|hMCD" 2000-02-11 2021-05-26 23417 ENSG00000103150 OTTHUMG00000176654 uc002fgz.4 AF153679 NM_012213 CCDS42206 O95822 "10455107|9869665" MGI:1928485 RGD:620234 "MLYCD Allelic Variant Database|https://lsdb.hgu.mrc.ac.uk/home.php?select_db=MLYCD/|LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=MLYCD" 606761 123290 objectId:1275 4.1.1.9 HGNC:7150 "ENST00000262430.6|NM_012213.3" HGNC:7150 +HGNC:18871 MMAA metabolism of cobalamin associated A protein-coding gene gene with protein product Approved 4q31.21 04q31.21 cblA "methylmalonic aciduria (cobalamin deficiency) type A|methylmalonic aciduria (cobalamin deficiency) cblA type" 2003-02-11 2018-08-02 2021-05-26 166785 ENSG00000151611 OTTHUMG00000161369 uc003ikh.5 AF524841 NM_001375644 CCDS3766 Q8IVH4 12438653 MGI:1923805 RGD:1305035 "MMAA database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MMAA|LRG_1301|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1301.xml" 607481 123294 3.6.-.- HGNC:18871 "ENST00000649156.2|NM_172250.3" HGNC:18871 +HGNC:19331 MMAB metabolism of cobalamin associated B protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "cblB|CFAP23" "ATP:cob(I)alamin adenosyltransferase|cilia and flagella associated protein 23" "methylmalonic aciduria (cobalamin deficiency) type B|methylmalonic aciduria (cobalamin deficiency) cblB type" Cilia and flagella associated 1491 2003-02-11 2018-08-02 2021-05-26 326625 ENSG00000139428 OTTHUMG00000169255 uc001tou.4 AF550404 NM_052845 CCDS9131 Q96EY8 "12471062|12514191" MGI:1924947 RGD:1596242 MMAB database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MMAB 607568 123296 2.5.1.17 HGNC:19331 "ENST00000545712.7|NM_052845.4" HGNC:19331 +HGNC:24525 MMACHC metabolism of cobalamin associated C protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "DKFZP564I122|cblC" methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 2006-01-12 2018-08-02 2021-05-26 25974 ENSG00000132763 OTTHUMG00000007742 uc009vxv.4 NM_015506 "CCDS81315|CCDS41324" Q9Y4U1 "16311595|19700356|19801555" MGI:1914346 RGD:1310806 MMACHC database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MMACHC 609831 123433 HGNC:24525 "ENST00000401061.9|NM_015506.3" HGNC:24525 +HGNC:25221 MMADHC metabolism of cobalamin associated D protein-coding gene gene with protein product Approved 2q23.2 02q23.2 "CL25022|cblD" C2orf25 "chromosome 2 open reading frame 25|methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria|methylmalonic aciduria and homocystinuria, cblD type" 2004-04-29 2009-01-08 2018-08-02 2021-05-26 27249 ENSG00000168288 OTTHUMG00000155558 uc002txc.4 BC023995 NM_015702 CCDS2189 Q9H3L0 18385497 MGI:1923786 RGD:1303272 MMADHC database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MMADHC 611935 171059 HGNC:25221 "ENST00000303319.10|NM_015702.3" HGNC:25221 +HGNC:41087 MMADHC-DT MMADHC divergent transcript non-coding RNA RNA, long non-coding Approved 2q23.3 02q23.3 Divergent transcripts 1990 2019-08-16 2019-08-16 101929231 ENSG00000231969 OTTHUMG00000153745 NR_110240 HGNC:41087 +HGNC:54996 MMADHCP1 MMADHC pseudogene 1 pseudogene pseudogene Approved Xq13.3 Xq13.3 2020-05-15 2020-05-15 100216356 ENSG00000237252 NG_009051 +HGNC:54997 MMADHCP2 MMADHC pseudogene 2 pseudogene pseudogene Approved 11p13 11p13 2020-05-15 2020-05-15 100216355 ENSG00000254708 NG_009050 +HGNC:7153 MMD monocyte to macrophage differentiation associated protein-coding gene gene with protein product Approved 17q22 17q22 "MMA|PAQR11" monocyte to macrophage differentiation-associated Progestin and adipoQ receptor family 930 1999-12-07 2016-04-04 2016-04-04 23531 ENSG00000108960 OTTHUMG00000177845 uc002iui.4 X85750 NM_012329 CCDS11586 Q15546 "7503749|16044242" MGI:1914718 RGD:1592079 604467 HGNC:7153 "ENST00000262065.8|NM_012329.3" +HGNC:30133 MMD2 monocyte to macrophage differentiation associated 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 PAQR10 monocyte to macrophage differentiation-associated 2 Progestin and adipoQ receptor family 930 2004-06-23 2016-03-14 2016-10-05 221938 ENSG00000136297 OTTHUMG00000151844 uc003snn.5 BC037881 NM_198403 "CCDS47529|CCDS47530|CCDS59047" Q8IY49 18769639 MGI:1922354 RGD:1306506 614581 HGNC:30133 "ENST00000401401.8|NM_198403.4" +HGNC:7154 MME membrane metalloendopeptidase protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "CALLA|CD10|NEP" "neutral endopeptidase|enkephalinase|neprilysin" "CD molecules|M13 metallopeptidases" "471|1439" 1989-05-15 2016-08-09 2016-08-09 4311 ENSG00000196549 OTTHUMG00000158455 uc010hvr.2 NM_000902 "CCDS3172|CCDS87157" P08473 MGI:97004 RGD:3098 120520 459043 M13.001 objectId:1611 CD10 3.4.24.11 HGNC:7154 "ENST00000360490.7|NM_007289.4" HGNC:7154 +HGNC:40376 MME-AS1 MME antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.2 03q25.2 MME antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100873918 ENSG00000240666 OTTHUMG00000158456 uc062pfa.1 MME-AS1 +HGNC:14668 MMEL1 membrane metalloendopeptidase like 1 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "SEP|NL1|NL2|NEPII" "neprilysin 2|neprilysin-II" MMEL2 membrane metallo-endopeptidase-like 2 M13 metallopeptidases 1439 2001-02-28 2016-08-10 2019-10-02 79258 ENSG00000142606 OTTHUMG00000000846 uc001ajy.3 AF336981 NM_033467 CCDS30569 Q495T6 "11560781|18539150" MGI:1351603 RGD:1309299 618104 239881 M13.008 HGNC:14668 "ENST00000378412.8|NM_033467.4" +HGNC:40695 MMEL1-AS1 MMEL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Antisense RNAs 1987 2019-08-16 2019-08-16 105378597 ENSG00000237058 OTTHUMG00000039631 XR_007065383 HGNC:40695 +HGNC:28100 MMGT1 membrane magnesium transporter 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 EMC5 ER membrane protein complex subunit 5 TMEM32 transmembrane protein 32 ER membrane protein complex subunits 1911 2004-07-28 2008-11-21 2008-11-21 2014-11-19 93380 ENSG00000169446 OTTHUMG00000022499 uc004ezi.2 AL157477 NM_173470 CCDS14653 Q8N4V1 "18057121|22119785" MGI:2384305 RGD:1566339 HGNC:28100 "ENST00000305963.3|NM_173470.3" +HGNC:7155 MMP1 matrix metallopeptidase 1 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 interstitial collagenase CLG matrix metalloproteinase 1 (interstitial collagenase) "Receptor ligands|M10 matrix metallopeptidases" "542|891" 1986-01-01 2015-02-23 2015-02-23 4312 ENSG00000196611 OTTHUMG00000048192 uc001phi.3 X54925 NM_002421 CCDS8322 P03956 "MGI:1933846|MGI:1933847" RGD:1307917 120353 306110 M10.001 ligandId:6655 3.4.24.7 HGNC:7155 "ENST00000315274.7|NM_002421.4" +HGNC:7166 MMP2 matrix metallopeptidase 2 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 TBE-1 "CLG4|CLG4A" matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) M10 matrix metallopeptidases 891 1989-05-25 2015-02-23 2021-05-26 4313 ENSG00000087245 OTTHUMG00000133202 uc002ehz.5 NM_001127891 "CCDS76869|CCDS10752|CCDS45487" P08253 MGI:97009 RGD:621316 120360 123439 M10.003 objectId:1629 3.4.24.24 HGNC:7166 "ENST00000219070.9|NM_004530.6" HGNC:7166 +HGNC:53142 MMP2-AS1 MMP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q12.2 16q12.2 ENST00000569037 Antisense RNAs 1987 2017-02-16 2017-02-16 107984884 ENSG00000260135 OTTHUMG00000176716 NR_147198 27816668 HGNC:53142 +HGNC:7173 MMP3 matrix metallopeptidase 3 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 "STMY1|STMY" "matrix metalloproteinase 3 (stromelysin 1, progelatinase)|stromelysin 1" M10 matrix metallopeptidases 891 2001-06-22 2015-02-23 2016-10-05 4314 ENSG00000149968 OTTHUMG00000048254 uc001phj.2 X05232 NM_002422 CCDS8323 P08254 MGI:97010 RGD:621317 185250 M10.005 objectId:1630 3.4.24.17 HGNC:7173 "ENST00000299855.10|NM_002422.5" +HGNC:7174 MMP7 matrix metallopeptidase 7 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 PUMP-1 matrilysin MPSL1 matrix metalloproteinase 7 (matrilysin, uterine) M10 matrix metallopeptidases 891 1991-07-15 2015-02-23 2015-08-25 4316 ENSG00000137673 OTTHUMG00000048193 uc001phb.4 Z11887 NM_002423 CCDS8317 P09237 8978768 MGI:103189 RGD:3100 178990 M10.008 objectId:1631 3.4.24.23 HGNC:7174 "ENST00000260227.5|NM_002423.5" +HGNC:7175 MMP8 matrix metallopeptidase 8 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 CLG1 matrix metalloproteinase 8 (neutrophil collagenase) M10 matrix metallopeptidases 891 1991-09-11 2015-02-23 2015-08-25 4317 ENSG00000118113 OTTHUMG00000167587 uc001phe.2 J05556 NM_002424 CCDS8320 P22894 MGI:1202395 RGD:631408 120355 M10.002 objectId:1632 3.4.24.34 HGNC:7175 "ENST00000236826.8|NM_002424.3" +HGNC:7176 MMP9 matrix metallopeptidase 9 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 CLG4B matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) M10 matrix metallopeptidases 891 1990-03-14 2015-02-23 2021-05-26 4318 ENSG00000100985 OTTHUMG00000033044 uc002xqz.3 NM_004994 CCDS13390 P14780 2158484 MGI:97011 RGD:621320 120361 208342 M10.004 objectId:1633 3.4.24.35 HGNC:7176 "ENST00000372330.3|NM_004994.3" HGNC:7176 +HGNC:7156 MMP10 matrix metallopeptidase 10 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 STMY2 "matrix metalloproteinase 10 (stromelysin 2)|stromelysin 2" M10 matrix metallopeptidases 891 1990-07-06 2015-02-23 2016-10-05 4319 ENSG00000166670 OTTHUMG00000168083 uc001phg.3 X07820 NM_002425 CCDS8321 P09238 MGI:97007 RGD:620192 185260 M10.006 objectId:1634 3.4.24.22 HGNC:7156 "ENST00000279441.9|NM_002425.3" +HGNC:7157 MMP11 matrix metallopeptidase 11 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 STMY3 "matrix metalloproteinase 11 (stromelysin 3)|stromelysin 3" M10 matrix metallopeptidases 891 1991-09-24 2015-02-23 2015-02-23 4320 ENSG00000099953 OTTHUMG00000150742 uc002zxx.4 NM_005940 CCDS13816 P24347 "1639418|7657606|12006591" MGI:97008 RGD:3099 185261 M10.007 objectId:1635 HGNC:7157 "ENST00000215743.8|NM_005940.5" +HGNC:7158 MMP12 matrix metallopeptidase 12 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 HME macrophage elastase matrix metalloproteinase 12 (macrophage elastase) M10 matrix metallopeptidases 891 1994-03-18 2015-02-23 2015-02-23 4321 ENSG00000262406 OTTHUMG00000165848 uc031yde.2 L23808 NM_002426 CCDS73375 P39900 MGI:97005 RGD:620195 601046 objectId:1636 HGNC:7158 "ENST00000571244.3|NM_002426.6" +HGNC:7159 MMP13 matrix metallopeptidase 13 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 CLG3 collagenase 3 matrix metalloproteinase 13 (collagenase 3) "Receptor ligands|M10 matrix metallopeptidases" "542|891" 1994-11-20 2015-02-23 2021-05-26 4322 ENSG00000137745 OTTHUMG00000165850 uc001phl.4 X75308 NM_002427 CCDS8324 P45452 8207000 MGI:1340026 RGD:620196 600108 123436 M10.013 objectId:1637 HGNC:7159 "ENST00000260302.8|NM_002427.4" HGNC:7159 +HGNC:7160 MMP14 matrix metallopeptidase 14 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MT1-MMP "membrane type 1 metalloprotease|membrane type 1-matrix metalloproteinase" "matrix metalloproteinase 14 (membrane-inserted)|matrix metallopeptidase 14 (membrane-inserted)" M10 matrix metallopeptidases 891 1994-11-20 2015-12-16 2021-05-26 4323 ENSG00000157227 OTTHUMG00000028704 uc001whc.5 NM_004995 CCDS9577 P50281 8015608 MGI:101900 RGD:620198 600754 314731 M10.014 objectId:1638 HGNC:7160 "ENST00000311852.11|NM_004995.4" HGNC:7160 +HGNC:7161 MMP15 matrix metallopeptidase 15 protein-coding gene gene with protein product Approved 16q21 16q21 "MT2-MMP|MTMMP2|SMCP-2" "matrix metalloproteinase 15 (membrane-inserted)|matrix metallopeptidase 15 (membrane-inserted)" M10 matrix metallopeptidases 891 1996-11-13 2015-12-04 2016-10-05 4324 ENSG00000102996 OTTHUMG00000133466 uc002ena.4 Z48482 NM_002428 CCDS10792 P51511 "9070935|9119382" MGI:109320 RGD:1308937 602261 M10.015 objectId:1639 HGNC:7161 "ENST00000219271.4|NM_002428.4" +HGNC:7162 MMP16 matrix metallopeptidase 16 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "MT3-MMP|DKFZp761D112" C8orf57 "matrix metalloproteinase 16 (membrane-inserted)|chromosome 8 open reading frame 57|matrix metallopeptidase 16 (membrane-inserted)" M10 matrix metallopeptidases 891 1996-11-13 2015-12-16 2016-10-05 4325 ENSG00000156103 OTTHUMG00000163769 uc003yeb.5 D85511 NM_005941 CCDS6246 P51512 7559440 MGI:1276107 RGD:620199 602262 M10.016 objectId:1640 HGNC:7162 "ENST00000286614.11|NM_005941.5" +HGNC:7163 MMP17 matrix metallopeptidase 17 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 MT4-MMP "matrix metalloproteinase 17 (membrane-inserted)|matrix metallopeptidase 17 (membrane-inserted)" M10 matrix metallopeptidases 891 1996-11-13 2015-12-04 2016-10-05 4326 ENSG00000198598 OTTHUMG00000168050 uc001ujc.2 X89576 NM_016155 CCDS31927 Q9ULZ9 9878265 MGI:1346076 RGD:1311541 602285 M10.017 objectId:1641 HGNC:7163 "ENST00000360564.5|NM_016155.7" +HGNC:7165 MMP19 matrix metallopeptidase 19 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 RASI-1 MMP18 matrix metalloproteinase 19 M10 matrix metallopeptidases 891 1998-01-16 2005-08-08 2016-11-09 4327 ENSG00000123342 OTTHUMG00000170216 uc001sib.5 X92521 NM_002429 "CCDS61146|CCDS8895" Q99542 9232430 MGI:1927899 RGD:1311376 601807 467266 M10.021 objectId:1642 HGNC:7165 "ENST00000322569.9|NM_002429.6" HGNC:7165 +HGNC:7167 MMP20 matrix metallopeptidase 20 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 enamelysin matrix metalloproteinase 20 (enamelysin) M10 matrix metallopeptidases 891 1999-07-23 2008-05-22 2021-05-26 9313 ENSG00000137674 OTTHUMG00000168081 uc001phc.3 Y12779 NM_004771 CCDS8318 O60882 9398237 MGI:1353466 RGD:1308730 604629 139176 M10.019 objectId:1643 HGNC:7167 "ENST00000260228.3|NM_004771.4" HGNC:7167 +HGNC:14357 MMP21 matrix metallopeptidase 21 protein-coding gene gene with protein product Approved 10q26.2 10q26.2 matrix metalloproteinase 21 M10 matrix metallopeptidases 891 2001-01-25 2005-08-08 2021-05-26 118856 ENSG00000154485 OTTHUMG00000019235 uc001liu.5 AF331526 NM_147191 CCDS7647 Q8N119 11255011 MGI:2664387 RGD:1309332 LRG_1307|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1307.xml 608416 445555 M10.026 objectId:1644 HGNC:14357 "ENST00000368808.3|NM_147191.1" HGNC:14357 +HGNC:7170 MMP23A matrix metallopeptidase 23A (pseudogene) pseudogene pseudogene Approved 1p36.33 01p36.33 MIFR MMP21 "matrix metalloproteinase 23A|matrix metallopeptidase 23A" "Immunoglobulin like domain containing|M10 matrix metallopeptidases" "594|891" 1999-08-26 2007-08-09 2016-10-05 8511 ENSG00000215914 OTTHUMG00000000585 NR_002946 "9740677|9750192" 603320 HGNC:7170 +HGNC:7171 MMP23B matrix metallopeptidase 23B protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "MIFR|MIFR-1" "matrix metalloproteinase 22|femalysin|matrix metalloproteinase in the female reproductive tract" MMP22 matrix metalloproteinase 23B "Immunoglobulin like domain containing|M10 matrix metallopeptidases" "594|891" 1999-08-26 2005-08-08 2020-05-15 8510 ENSG00000189409 OTTHUMG00000074713 uc057bhg.1 NM_006983 CCDS30559 O75900 "9740677|9750192" MGI:1347361 RGD:620201 603321 M10.022 objectId:1645 HGNC:7171 "ENST00000356026.10|NM_006983.2" +HGNC:7172 MMP24 matrix metallopeptidase 24 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 MT5-MMP membrane-type 5 matrix metalloproteinase "matrix metalloproteinase 24 (membrane-inserted)|matrix metallopeptidase 24 (membrane-inserted)" M10 matrix metallopeptidases 891 1999-08-06 2015-12-16 2016-10-05 10893 ENSG00000125966 OTTHUMG00000032330 uc002xbu.3 AF131284 NM_006690 CCDS46593 Q9Y5R2 10363975 MGI:1341867 RGD:620202 604871 M10.023 objectId:1646 HGNC:7172 "ENST00000246186.8|NM_006690.4" +HGNC:44421 MMP24OS MMP24 opposite strand protein-coding gene gene with protein product Approved 20q11.22 20q11.22 MMP24-AS1 MMP24 antisense RNA 1 2012-10-08 2017-09-28 2017-09-28 2018-02-27 101410538 ENSG00000126005 OTTHUMG00000032333 uc031rsv.3 "BG546906|DA451679" NM_001355003 CCDS86948 A0A0U1RRL7 29474001 HGNC:44421 "ENST00000456790.2|NM_001355003.2" +HGNC:14246 MMP25 matrix metallopeptidase 25 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MT6-MMP "MMPL1|MMP20" "matrix metalloproteinase 25|matrix metallopeptidase-like 1" M10 matrix metallopeptidases 891 2000-12-13 2005-08-08 2019-08-20 64386 ENSG00000008516 OTTHUMG00000177475 uc002cth.4 AF145442 NM_022468 CCDS10492 Q9NPA2 "10628838|10706098" MGI:2443938 RGD:1308298 608482 M10.024 objectId:1647 HGNC:14246 "ENST00000336577.9|NM_022468.5" +HGNC:51372 MMP25-AS1 MMP25 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2014-10-16 2014-10-16 100507419 ENSG00000261971 OTTHUMG00000177474 "BC026114|AK124978" NR_123723 MMP25-AS1 HGNC:51372 +HGNC:14249 MMP26 matrix metallopeptidase 26 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "endometase|MGC126590|MGC126592" matrilysin 2 matrix metalloproteinase 26 M10 matrix metallopeptidases 891 2000-12-13 2005-08-08 2016-10-05 56547 ENSG00000167346 OTTHUMG00000066442 uc001lzv.4 AF230354 NM_021801 CCDS7752 Q9NRE1 "10801841|10824119" 605470 M10.029 objectId:1648 3.4.24.1 HGNC:14249 "ENST00000380390.6|NM_021801.5" +HGNC:14250 MMP27 matrix metallopeptidase 27 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 matrix metalloprotease 27 matrix metalloproteinase 27 M10 matrix metallopeptidases 891 2000-12-13 2005-08-08 2016-10-05 64066 ENSG00000137675 OTTHUMG00000168099 uc001phd.2 AF195192 NM_022122 CCDS8319 Q9H306 10419448 MGI:3039232 RGD:1306642 618101 objectId:1649 HGNC:14250 "ENST00000260229.5|NM_022122.3" +HGNC:14366 MMP28 matrix metallopeptidase 28 protein-coding gene gene with protein product Approved 17q12 17q12 "MMP-25|MM28|EPILYSIN|MMP-28" matrix metalloproteinase 28 M10 matrix metallopeptidases 891 2001-01-09 2005-08-08 2014-11-19 79148 ENSG00000271447 OTTHUMG00000188387 uc032fbc.2 AF315683 NM_024302 "CCDS76996|CCDS45651|CCDS74036" Q9H239 "11121398|11255011" MGI:2153062 RGD:1311573 608417 M10.030 objectId:1650 HGNC:14366 "ENST00000605424.6|NM_024302.5" +HGNC:7178 MMRN1 multimerin 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "ECM|EMILIN4|GPIa*" glycoprotein Ia* MMRN multimerin "EMI domain containing|C1q domain containing" "540|1641" 2000-01-12 2004-03-02 2004-03-02 2021-04-13 22915 ENSG00000138722 OTTHUMG00000130947 uc003hst.4 U27109 NM_007351 CCDS3635 Q13201 "7629143|10828608" MGI:1918195 RGD:1587248 LRG_634|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_634.xml 601456 HGNC:7178 "ENST00000264790.7|NM_007351.3" HGNC:7178 +HGNC:19888 MMRN2 multimerin 2 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "EndoGlyx-1|FLJ13465" EMILIN3 elastin microfibril interfacer 3 "EMI domain containing|C1q domain containing" "540|1641" 2003-07-16 2004-03-02 2004-03-02 2021-04-13 79812 ENSG00000173269 OTTHUMG00000018663 uc001kea.4 AK023527 NM_024756 CCDS7379 Q9H8L6 11559704 MGI:2385618 RGD:1311461 LRG_649|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_649.xml 608925 HGNC:19888 "ENST00000372027.10|NM_024756.3" +HGNC:13824 MMS19 MMS19 homolog, cytosolic iron-sulfur assembly component protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "MET18|hMMS19|CIAO4" MET18 homolog (S. cerevisiae) MMS19L MMS19 nucleotide excision repair homolog (S. cerevisiae) "Cytosolic iron-sulfur assembly components|Nucleotide excision repair|Armadillo like helical domain containing" "1028|1269|1492" 2000-12-21 2007-08-15 2015-07-02 2018-05-17 64210 ENSG00000155229 OTTHUMG00000018857 uc001knt.5 AF007151 NM_001289403 "CCDS81493|CCDS7464|CCDS73177" Q96T76 "11071939|22678362|22678361" MGI:1919449 RGD:727890 614777 HGNC:13824 "ENST00000438925.7|NM_022362.5" +HGNC:21475 MMS22L MMS22 like, DNA repair protein protein-coding gene gene with protein product Approved 6q16.1 06q16.1 dJ39B17.2 C6orf167 "chromosome 6 open reading frame 167|MMS22-like, DNA repair protein" 2003-11-26 2010-11-11 2015-11-23 2016-10-05 253714 ENSG00000146263 OTTHUMG00000015248 uc003ppb.3 NM_198468 CCDS5039 Q6ZRQ5 "21055983|21055984" MGI:2684980 RGD:1304693 615614 HGNC:21475 "ENST00000683635.1|NM_001350599.2" +HGNC:7526 MMUT methylmalonyl-CoA mutase protein-coding gene gene with protein product Approved 6p12.3 06p12.3 MCM MUT methylmalonyl Coenzyme A mutase 2001-06-22 2018-10-18 2015-11-11 2018-10-18 4594 ENSG00000146085 OTTHUMG00000014814 uc003ozg.5 NM_000255 CCDS4924 P22033 "2907507|9503014" MGI:97239 RGD:1587662 MUT database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MUT 609058 123583 5.4.99.2 HGNC:7526 "ENST00000274813.4|NM_000255.4" HGNC:7526 +HGNC:7180 MN1 MN1 proto-oncogene, transcriptional regulator protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "MGCR1-PEN|MGCR1" probable tumor suppressor protein MN1 MGCR "meningioma chromosome region|meningioma (disrupted in balanced translocation) 1" 1998-06-08 2016-06-13 2016-06-13 4330 ENSG00000169184 OTTHUMG00000150975 uc003adj.3 X82209 NM_002430 CCDS42998 Q10571 "7731706|12569362" MGI:1261813 RGD:1565571 MN1 156100 445669 HGNC:7180 "ENST00000302326.5|NM_002430.3" HGNC:7180 +HGNC:7181 MNAT1 MNAT1 component of CDK activating kinase protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "MAT1|RNF66" CDK-activating kinase assembly factor "menage a trois 1 (CAK assembly factor)|menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)|MNAT CDK-activating kinase assembly factor 1|MNAT1, CDK activating kinase assembly factor" "Ring finger proteins|Nucleotide excision repair|CDK activating kinase complex" "58|1269|1744" 1997-10-09 2019-01-25 2019-01-25 4331 ENSG00000020426 OTTHUMG00000152340 uc001xfd.4 X87843 NM_002431 "CCDS9750|CCDS53899" P51948 9465303 MGI:106207 RGD:628874 602659 HGNC:7181 "ENST00000261245.9|NM_002431.4" +HGNC:24839 MND1 meiotic nuclear divisions 1 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 GAJ meiotic nuclear divisions 1 homolog (S. cerevisiae) 2006-02-28 2015-06-26 2015-06-26 84057 ENSG00000121211 OTTHUMG00000161523 uc003ink.3 AY028916 NM_032117 "CCDS3782|CCDS75202" Q9BWT6 "11940665|16407260" MGI:1924165 RGD:1309007 611422 HGNC:24839 "ENST00000240488.8|NM_032117.4" +HGNC:7183 MNDA myeloid cell nuclear differentiation antigen protein-coding gene gene with protein product Approved 1q23.1 01q23.1 PYHIN3 "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 1993-06-29 2017-03-23 4332 ENSG00000163563 OTTHUMG00000022776 uc001fsz.2 BC032319 NM_002432 CCDS1177 P41218 "1644857|7512843|25665578" "MGI:101847|MGI:3041120|MGI:3780953" 159553 470674 objectId:2926 HGNC:7183 "ENST00000368141.5|NM_002432.3" +HGNC:29636 MNS1 meiosis specific nuclear structural 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "FLJ11222|SPATA40" spermatogenesis associated 40 2005-07-20 2015-11-23 2015-11-23 55329 ENSG00000138587 OTTHUMG00000132034 uc002adr.2 AK002084 NM_018365 CCDS10158 Q8NEH6 "7625268|8032679" MGI:107933 RGD:1549718 610766 HGNC:29636 "ENST00000260453.4|NM_018365.4" HGNC:29636 +HGNC:7188 MNT MAX network transcriptional repressor protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "ROX|MXD6|MAD6|bHLHd3|lncRNA-HAL" "myc antagonist|Max-interacting protein" "MAX binding protein|MNT, MAX dimerization protein" "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 1998-07-15 2013-11-15 2020-03-12 4335 ENSG00000070444 OTTHUMG00000090603 uc002fur.4 Y13444 NM_020310 CCDS11018 Q99583 9598315 MGI:109150 RGD:1308683 603039 HGNC:7188 "ENST00000174618.5|NM_020310.3" +HGNC:4979 MNX1 motor neuron and pancreas homeobox 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "HB9|HOXHB9|SCRA1" HLXB9 "homeo box HB9|homeobox HB9" HOXL subclass homeoboxes 518 1994-12-13 2007-08-09 2007-08-09 2018-03-19 3110 ENSG00000130675 OTTHUMG00000157181 uc064jri.1 AF107457 NM_001165255 "CCDS55187|CCDS34788" P50219 9843207 MGI:109160 RGD:1588091 142994 8555 138820 HGNC:4979 "ENST00000252971.11|NM_005515.4" HGNC:4979 +HGNC:48954 MNX1-AS1 MNX1 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 "CCAT5|LOC645249|MAYA" MST1/2-antagonizing lncRNA for YAP activation Antisense RNAs 1987 2013-07-23 2021-06-21 645249 ENSG00000243479 OTTHUMG00000188695 NR_038835 "25663692|27797375|28414551" MNX1-AS1 HGNC:48954 +HGNC:40278 MNX1-AS2 MNX1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 ENST00000429228 Antisense RNAs 1987 2013-07-23 2017-02-16 105375606 ENSG00000235029 OTTHUMG00000187957 AI761375 NR_147077 27816668 MNX1-AS2 HGNC:40278 +HGNC:16658 MOAP1 modulator of apoptosis 1 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "MAP-1|PNMA4" paraneoplastic Ma antigen family member 4 Paraneoplastic Ma antigens 671 2002-11-13 2014-11-19 64112 ENSG00000165943 OTTHUMG00000169184 uc001ybj.4 BC015044 NM_022151 CCDS9908 Q96BY2 11060313 MGI:1915555 RGD:1307230 609485 HGNC:16658 "ENST00000298894.5|NM_022151.5" +HGNC:16015 MOB1A MOB kinase activator 1A protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "FLJ10788|MOB1|FLJ11595|Mob4B|Mats1" "C2orf6|MOBK1B|MOBKL1B" "chromosome 2 open reading frame 6|MOB1, Mps One Binder kinase activator-like 1B (yeast)|MOB1 Mps One Binder homolog A (yeast)" MOB kinase activators 647 2001-06-29 2011-09-27 2011-09-28 2014-11-18 55233 ENSG00000114978 OTTHUMG00000152833 uc002skh.5 NM_018221 CCDS46340 Q9H8S9 "11319234|20624913" MGI:2442631 RGD:1307014 609281 HGNC:16015 "ENST00000396049.5|NM_018221.5" +HGNC:42638 MOB1AP1 MOB kinase activator 1A pseudogene 1 pseudogene pseudogene Approved 13q31.1 13q31.1 MOBKL1BP1 "MOB1, Mps One Binder kinase activator-like 1B (yeast) pseudogene 1|MOB1 Mps One Binder homolog A (yeast) pseudogene 1" 2011-08-10 2011-09-27 2011-10-19 2014-11-18 100873874 ENSG00000228241 OTTHUMG00000017158 NG_032520 PGOHUM00000248654 HGNC:42638 +HGNC:42639 MOB1AP2 MOB kinase activator 1A pseudogene 2 pseudogene pseudogene Approved Xp21.1 Xp21.1 MOBKL1BP2 "MOB1, Mps One Binder kinase activator-like 1B (yeast) pseudogene 2|MOB1 Mps One Binder homolog A (yeast) pseudogene 2" 2011-08-10 2011-09-27 2011-10-19 2014-11-18 100873854 ENSG00000233810 OTTHUMG00000021358 NG_032521 PGOHUM00000241707 HGNC:42639 +HGNC:29801 MOB1B MOB kinase activator 1B protein-coding gene gene with protein product Approved 4q13.3 04q13.3 MOB4A Mob4A protein MOBKL1A "MOB1, Mps One Binder kinase activator-like 1A (yeast)|MOB1 Mps One Binder homolog B (yeast)" MOB kinase activators 647 2004-02-11 2011-09-27 2011-09-28 2015-08-25 92597 ENSG00000173542 OTTHUMG00000160844 uc003hfw.4 BC038112 NM_173468 "CCDS58903|CCDS34002" Q7L9L4 15067004 MGI:1915723 RGD:1305114 609282 HGNC:29801 "ENST00000309395.7|NM_173468.4" +HGNC:24904 MOB2 MOB kinase activator 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 HCCA2 MOB2 Mps One Binder homolog (yeast) MOB kinase activators 647 2011-09-28 2015-08-25 81532 ENSG00000182208 OTTHUMG00000165545 uc010qwz.3 NM_053005 CCDS53591 Q70IA6 "11223154|15067004" MGI:1919891 RGD:1562983 611969 HGNC:24904 "ENST00000329957.7|NM_001172223.3" +HGNC:29802 MOB3A MOB kinase activator 3A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MOB1C|MOB-LAK|moblak" MOB LAK MOBKL2A MOB1, Mps One Binder kinase activator-like 2A (yeast) MOB kinase activators 647 2004-02-11 2011-09-28 2011-09-28 2015-09-03 126308 ENSG00000172081 OTTHUMG00000180353 uc002luv.4 AK095471 NM_130807 CCDS12081 Q96BX8 12477932 MGI:3050117 RGD:1308187 HGNC:29802 "ENST00000357066.8|NM_130807.3" +HGNC:23825 MOB3B MOB kinase activator 3B protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "MOB1D|FLJ13204" monopolar spindle 1 binding, MOB1, domain containing "MOBKL2B|C9orf35" "MOB1, Mps One Binder kinase activator-like 2B (yeast)|chromosome 9 open reading frame 35" MOB kinase activators 647 2004-02-11 2011-09-28 2011-09-28 2016-10-05 79817 ENSG00000120162 OTTHUMG00000019717 uc003zqn.4 AK023266 NM_024761 CCDS6520 Q86TA1 12477932 MGI:2664539 RGD:1560696 617652 HGNC:23825 "ENST00000262244.6|NM_024761.5" +HGNC:29800 MOB3C MOB kinase activator 3C protein-coding gene gene with protein product Approved 1p33 01p33 MOB1E MOBKL2C MOB1, Mps One Binder kinase activator-like 2C (yeast) MOB kinase activators 647 2004-02-11 2011-09-28 2011-09-28 2016-10-05 148932 ENSG00000142961 OTTHUMG00000007989 uc001cqf.4 AK091808 NM_145279 CCDS540 Q70IA8 12477932 MGI:2140623 RGD:1307821 HGNC:29800 "ENST00000319928.9|NM_201403.3" +HGNC:17261 MOB4 MOB family member 4, phocein protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "MOB3|DKFZP564M112|CGI-95|2C4D|PHOCN" "phocein|phocein, Mob-like protein" "PREI3|MOBKL3" "preimplantation protein 3|MOB1, Mps One Binder kinase activator-like 3 (yeast)" "MOB kinase activators|STRIPAK complex" "647|1371" 2002-01-16 2011-09-28 2011-09-28 2014-11-19 25843 ENSG00000115540 OTTHUMG00000132748 uc002uun.5 AF151853 NM_015387 "CCDS46480|CCDS2322|CCDS2321" Q9Y3A3 "17853115|10810093|11230166|11319234" MGI:104899 RGD:620183 609361 HGNC:17261 "ENST00000323303.9|NM_015387.5" +HGNC:54749 MOB4P1 MOB4 pseudogene 1 pseudogene pseudogene Approved 2p13.3 02p13.3 2019-12-20 2019-12-20 100421925 ENSG00000231386 NG_023567 +HGNC:54750 MOB4P2 MOB4 pseudogene 2 pseudogene pseudogene Approved 11q14.2 11q14.2 2019-12-20 2019-12-20 100131078 ENSG00000271318 NG_021794 +HGNC:7189 MOBP myelin associated oligodendrocyte basic protein protein-coding gene gene with protein product Approved 3p22.1 03p22.1 1996-09-13 2019-02-15 2019-02-15 4336 ENSG00000168314 OTTHUMG00000131347 uc003cjv.5 D28113 "NM_006501|NM_182934|NM_182935" "CCDS2688|CCDS63598|CCDS2687" Q13875 7989345 MGI:108511 RGD:3101 600948 HGNC:7189 "ENST00000684792.1|NM_001393704.1" +HGNC:18234 MOCOS molybdenum cofactor sulfurase protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "HMCS|FLJ20733|MOS" 2003-12-18 2016-10-05 55034 ENSG00000075643 OTTHUMG00000132590 uc002kzq.5 AK000740 NM_017947 CCDS11919 Q96EN8 11302742 MGI:1915841 RGD:1308496 613274 123447 HGNC:18234 "ENST00000261326.6|NM_017947.4" HGNC:18234 +HGNC:7190 MOCS1 molybdenum cofactor synthesis 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 MOCOD Radical S-adenosylmethionine domain containing 2036 1998-07-23 2021-05-26 4337 ENSG00000124615 OTTHUMG00000014656 uc063oip.1 AJ224328 NM_005943 "CCDS87394|CCDS43460" Q9NZB8 "9731530|10053004" MGI:1928904 RGD:1308471 603707 123452 HGNC:7190 "ENST00000340692.10|NM_001358530.2" HGNC:7190 +HGNC:7191 MOCS1P1 molybdenum cofactor synthesis 1 pseudogene 1 pseudogene pseudogene Approved 16q12.1 16q12.1 MOCS1P2 molybdenum cofactor synthesis 1 pseudogene 2 2000-01-20 2014-11-19 27187 ENSG00000260347 OTTHUMG00000175420 AJ272089 NG_001271 PGOHUM00000249122 HGNC:7191 +HGNC:7193 MOCS2 molybdenum cofactor synthesis 2 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "MOCO1|MOCS2A|MOCS2B" "molybdopterin synthase catalytic subunit|molybdopterin synthase large subunit|molybdopterin synthase small subunit" 1998-07-23 2021-05-26 4338 ENSG00000164172 OTTHUMG00000096981 uc003joz.5 AF117815 NM_183418 "CCDS47205|CCDS3958" "O96007|O96033" "16737835|10053004|9889283" MGI:1336894 RGD:1359477 603708 123455 2.8.1.12 HGNC:7193 "ENST00000396954.8|NM_004531.5" HGNC:7193 +HGNC:27417 MOCS2-DT MOCS2 divergent transcript non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Divergent transcripts 1990 2021-04-26 2021-04-26 257396 ENSG00000247796 NR_034107 +HGNC:15765 MOCS3 molybdenum cofactor synthesis 3 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "UBA4|dJ914P20.3" "ubiquitin-like modifier activating enzyme 4|UBA4, ubiquitin-activating enzyme E1 homolog (yeast)" Ubiquitin like modifier activating enzymes 100 2001-09-17 2014-11-18 27304 ENSG00000124217 OTTHUMG00000032741 uc002xvy.3 AF102544 NM_014484 CCDS13435 O95396 15910006 MGI:1916622 RGD:1307044 609277 HGNC:15765 "ENST00000244051.3|NM_014484.5" +HGNC:20021 MOCS3P1 molybdenum cofactor synthesis 3 pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 MOCS3P molybdenum cofactor synthesis 3 pseudogene 2003-01-13 2010-02-25 2010-02-25 2014-11-18 326305 NG_002557 PGOHUM00000248197 HGNC:20021 +HGNC:39444 MOCS3P2 molybdenum cofactor synthesis 3 pseudogene 2 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-01-11 2011-01-11 100420520 NG_024852 PGOHUM00000248388 HGNC:39444 +HGNC:7197 MOG myelin oligodendrocyte glycoprotein protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "BTN6|BTNL11" "Butyrophilins|V-set domain containing" "458|590" 1994-03-30 2016-04-25 4340 ENSG00000204655 OTTHUMG00000031099 uc011ifj.3 NM_002433 "CCDS34368|CCDS87379|CCDS34370|CCDS47394|CCDS47395|CCDS54977|CCDS34366|CCDS34369|CCDS4667|CCDS34367" Q16653 MGI:97435 RGD:3102 159465 285128 HGNC:7197 "ENST00000376917.8|NM_206809.4" +HGNC:18210 MOGAT1 monoacylglycerol O-acyltransferase 1 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "DGAT2L|MGAT1" DGAT2L1 diacylglycerol O-acyltransferase 2 like 1 Diacylglycerol O-acyltransferase 2 family 1235 2002-04-10 2004-05-28 2004-05-28 2016-10-05 116255 ENSG00000124003 OTTHUMG00000153394 uc010fws.2 AF384163 NM_058165 CCDS46524 Q96PD6 14970677 MGI:1915643 RGD:1311644 610268 HGNC:18210 "ENST00000446656.4|NM_058165.3" +HGNC:23248 MOGAT2 monoacylglycerol O-acyltransferase 2 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "MGAT2|DGAT2L5|FLJ22644" Diacylglycerol O-acyltransferase 2 family 1235 2004-05-14 2014-11-19 80168 ENSG00000166391 OTTHUMG00000165341 uc010rru.3 AY157608 NM_025098 CCDS8240 Q3SYC2 14970677 MGI:2663253 RGD:1598060 610270 objectId:2881 HGNC:23248 "ENST00000198801.10|NM_025098.4" +HGNC:23249 MOGAT3 monoacylglycerol O-acyltransferase 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DC7|MGAT3|DGAT2L2" Diacylglycerol O-acyltransferase 2 family 1235 2004-05-14 2021-08-19 346606 ENSG00000106384 OTTHUMG00000023328 uc003uyc.5 AY229854 NM_178176 "CCDS5714|CCDS75643" Q86VF5 "12618427|14970677" RGD:1592588 610184 "2.3.1.20|2.3.1.22" HGNC:23249 "ENST00000223114.9|NM_178176.4" +HGNC:24862 MOGS mannosyl-oligosaccharide glucosidase protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "GCS1|CWH41|DER7" "glucosidase I|processing A-glucosidase I" Glycoside hydrolases 1650 2009-03-24 2021-04-13 7841 ENSG00000115275 OTTHUMG00000152886 uc010ffj.3 X87237 NM_006302 "CCDS54370|CCDS42700" Q13724 "7635146|8786151" MGI:1929872 RGD:69240 LRG_1226|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1226.xml 601336 183883 3.2.1.106 HGNC:24862 "ENST00000448666.7|NM_006302.3" HGNC:24862 +HGNC:9833 MOK MOK protein kinase protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "RAGE1|STK30" RAGE renal tumor antigen 1995-05-10 2011-09-06 2011-09-06 2016-10-05 5891 ENSG00000080823 OTTHUMG00000164896 uc001ylm.5 AB022694 NM_001272011 "CCDS81854|CCDS9971|CCDS61552" Q9UQ07 "8781117|10421840" MGI:1336881 RGD:1309274 605762 objectId:2107 HGNC:9833 "ENST00000361847.7|NM_014226.3" +HGNC:28207 MON1A MON1 homolog A, secretory trafficking associated protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "MGC13272|SAND1" "MON1 homolog A (yeast)|MON1 secretory trafficking family member A" 2005-03-02 2015-11-27 2018-06-04 84315 ENSG00000164077 OTTHUMG00000156737 uc003cxz.4 AK074404 NM_032355 "CCDS46830|CCDS2808" Q86VX9 20305638 MGI:1920075 RGD:1308823 611464 HGNC:28207 "ENST00000296473.8|NM_032355.4" +HGNC:25020 MON1B MON1 homolog B, secretory trafficking associated protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "SAND2|HSRG1|KIAA0872" "MON1 homolog B (yeast)|MON1 secretory trafficking family member B" 2005-03-02 2015-11-27 2015-11-27 22879 ENSG00000103111 OTTHUMG00000137618 uc002fez.5 BC024277 NM_014940 "CCDS10925|CCDS67082|CCDS67083" Q7L1V2 10048485 MGI:1923231 RGD:1309977 608954 HGNC:25020 "ENST00000248248.8|NM_014940.4" +HGNC:29177 MON2 MON2 homolog, regulator of endosome-to-Golgi trafficking protein-coding gene gene with protein product Approved 12q14.1 12q14.1 KIAA1040 "MON2 homolog (yeast)|MON2 homolog (S. cerevisiae)" Armadillo like helical domain containing 1492 2006-01-20 2015-07-02 2015-07-02 23041 ENSG00000061987 OTTHUMG00000169992 uc001sre.4 NM_015026 "CCDS61175|CCDS31849|CCDS61177|CCDS61178" Q7Z3U7 "16301316|24285343" MGI:1914324 RGD:1308808 616822 HGNC:29177 "ENST00000393630.8|NM_015026.3" +HGNC:7198 MORC1 MORC family CW-type zinc finger 1 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "ZCW6|CT33" cancer/testis antigen 33 MORC "microrchidia (mouse) homolog|microrchidia homolog (mouse)" Zinc fingers CW-type 96 2000-01-20 2005-06-15 2005-06-15 2016-10-05 27136 ENSG00000114487 OTTHUMG00000159209 uc003dxl.4 AF084946 NM_014429 CCDS2955 Q86VD1 10369865 MGI:1316740 RGD:1565610 603205 HGNC:7198 "ENST00000232603.10|NM_014429.4" +HGNC:40377 MORC1-AS1 MORC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.13 03q13.13 MORC1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100506506 ENSG00000239314 OTTHUMG00000159211 uc062mhf.1 NR_144461 MORC1-AS1 HGNC:40377 +HGNC:23573 MORC2 MORC family CW-type zinc finger 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "ZCW3|KIAA0852|AC004542.C22.1" ZCWCC1 "zinc finger, CW-type with coiled-coil domain 1|zinc finger, CW type with coiled-coil domain 1" Zinc fingers CW-type 96 2003-11-24 2005-06-15 2005-06-15 2021-05-26 22880 ENSG00000133422 OTTHUMG00000151193 uc062dgc.1 AB020659 NM_014941 "CCDS77668|CCDS33636" Q9Y6X9 14607086 MGI:1921772 RGD:1310842 616661 470678 HGNC:23573 "ENST00000397641.8|NM_001303256.3" HGNC:23573 +HGNC:26662 MORC2-AS1 MORC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 FLJ35801 "C22orf27|NCRNA00325" "chromosome 22 open reading frame 27|non-protein coding RNA 325|MORC2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2006-06-27 2011-05-04 2012-08-15 2014-11-19 150291 ENSG00000235989 OTTHUMG00000150197 uc003ajd.4 AK093120 NR_026920 MORC2-AS1 HGNC:26662 +HGNC:23572 MORC3 MORC family CW-type zinc finger 3 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 "ZCW5|NXP2|KIAA0136" ZCWCC3 "zinc finger, CW-type with coiled-coil domain 3|zinc finger, CW type with coiled-coil domain 3" Zinc fingers CW-type 96 2003-11-24 2005-06-15 2005-06-15 2016-10-05 23515 ENSG00000159256 OTTHUMG00000086620 uc002yvi.3 AK025327 NM_015358 CCDS42924 Q14149 14607086 MGI:2136841 RGD:1307924 610078 HGNC:23572 "ENST00000400485.6|NM_015358.3" +HGNC:23485 MORC4 MORC family CW-type zinc finger 4 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "ZCW4|FLJ11565" ZCWCC2 "zinc finger, CW-type with coiled-coil domain 2|zinc finger, CW type with coiled-coil domain 2" Zinc fingers CW-type 96 2003-11-24 2005-06-15 2005-06-15 2020-04-02 79710 ENSG00000133131 OTTHUMG00000022155 uc004emu.4 AK021627 NM_024657 "CCDS48146|CCDS14525" Q8TE76 14607086 MGI:1922996 RGD:1559905 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MORC4 300970 HGNC:23485 "ENST00000355610.9|NM_024657.5" +HGNC:15773 MORF4 mortality factor 4 (pseudogene) pseudogene pseudogene Approved 4q34.1 04q34.1 "SEN|SEN1" "senescence (cellular)-related 1|mortality factor 4" 2003-02-10 2011-01-27 2015-02-27 2021-10-07 10934 ENSG00000234801 OTTHUMG00000153241 AF100614 NG_028235 "9891081|2062841|12407449" 116960 PGOHUM00000300077 HGNC:15773 +HGNC:16989 MORF4L1 mortality factor 4 like 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "MRG15|MORFRG15|HsT17725|Eaf3|MEAF3" "MORF-related gene on chromosome 15|Esa1p-associated factor 3 homolog (S. cerevisiae)" "EMSY complex|Tip60/Nua4 histone acetyltransferase complex subunits" "1243|1634" 2003-02-10 2014-11-18 10933 ENSG00000185787 OTTHUMG00000143865 uc002bem.5 AF100615 NM_006791 "CCDS32304|CCDS58393|CCDS10307" Q9UBU8 "8619474|9110174" MGI:1096551 RGD:1307938 607303 HGNC:16989 "ENST00000426013.7|NM_006791.4" +HGNC:20400 MORF4L1P1 mortality factor 4 like 1 pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 MRG1 MORF4LP1 mortality factor 4 like pseudogene 1 2003-02-10 2010-11-24 2010-11-24 2017-04-24 326591 ENSG00000218283 OTTHUMG00000037285 AF100616 NG_015837 9891081 PGOHUM00000296774 HGNC:20400 +HGNC:20401 MORF4L1P2 mortality factor 4 like 1 pseudogene 2 pseudogene pseudogene Approved 12p13.2 12p13.2 MORF4LP2 mortality factor 4 like pseudogene 2 2003-02-10 2010-11-24 2010-11-24 2017-04-24 326594 NG_002591 9891081 PGOHUM00000291243 HGNC:20401 +HGNC:20402 MORF4L1P3 mortality factor 4 like 1 pseudogene 3 pseudogene pseudogene Approved 11p15.2 11p15.2 MRG11 MORF4LP3 mortality factor 4 like pseudogene 3 2003-02-10 2010-11-24 2010-11-24 2017-04-24 326593 ENSG00000255040 OTTHUMG00000165899 AF100619 NG_002590 9891081 PGOHUM00000290402 HGNC:20402 +HGNC:39257 MORF4L1P4 mortality factor 4 like 1 pseudogene 4 pseudogene pseudogene Approved 13q14.11 13q14.11 2010-11-24 2017-04-24 100420030 ENSG00000225133 OTTHUMG00000016787 NG_024849 PGOHUM00000291938 HGNC:39257 +HGNC:35425 MORF4L1P5 mortality factor 4 like 1 pseudogene 5 pseudogene pseudogene Approved Xq11.2 Xq11.2 MORF4LP5 mortality factor 4 like pseudogene 5 2010-06-17 2010-11-24 2010-11-24 2017-04-24 100129288 ENSG00000231857 OTTHUMG00000021715 NG_022605 PGOHUM00000304667 HGNC:35425 +HGNC:39258 MORF4L1P6 mortality factor 4 like 1 pseudogene 6 pseudogene pseudogene Approved Xq13.2 Xq13.2 2010-11-24 2017-04-24 100873878 ENSG00000233162 OTTHUMG00000021832 NG_032238 PGOHUM00000305144 HGNC:39258 +HGNC:39259 MORF4L1P7 mortality factor 4 like 1 pseudogene 7 pseudogene pseudogene Approved 1q25.2 01q25.2 2010-11-24 2017-04-24 100130637 ENSG00000225904 OTTHUMG00000034989 NG_022744 PGOHUM00000295969 HGNC:39259 +HGNC:16849 MORF4L2 mortality factor 4 like 2 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "KIAA0026|MRGX" MORF-related gene X EMSY complex 1243 2003-02-10 2016-10-05 9643 ENSG00000123562 OTTHUMG00000022104 uc004elf.4 AF100620 NM_012286 CCDS14512 Q15014 "9891081|7584026" MGI:1927167 RGD:1359471 300409 HGNC:16849 "ENST00000441076.7|NM_012286.3" +HGNC:27991 MORF4L2-AS1 MORF4L2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.2 Xq22.2 MORF4L2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-02 2012-08-15 2014-11-19 340544 ENSG00000231154 OTTHUMG00000022108 uc004elg.4 BC043382 NR_038978 12477932 MORF4L2-AS1 HGNC:27991 +HGNC:20403 MORF4L2P1 mortality factor 4 like 2 pseudogene 1 pseudogene pseudogene Approved 4q12 04q12 MRG4 MORF4LP4 mortality factor 4 like pseudogene 4 2003-02-10 2010-11-24 2010-11-24 2010-11-24 643915 ENSG00000250147 OTTHUMG00000160642 NG_011863 9891081 PGOHUM00000245911 HGNC:20403 +HGNC:25852 MORN1 MORN repeat containing 1 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 FLJ13941 2005-12-06 2016-10-05 79906 ENSG00000116151 OTTHUMG00000001402 uc001ajb.2 AK024003 NM_024848 "CCDS72688|CCDS40" Q5T089 12477932 MGI:1924116 RGD:1359433 HGNC:25852 "ENST00000378531.8|NM_024848.3" +HGNC:30166 MORN2 MORN repeat containing 2 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 MOPT 2005-12-06 2020-04-20 729967 ENSG00000188010 OTTHUMG00000128589 uc010fak.3 AY367766 NM_194270 CCDS46262 Q502X0 12477932 MGI:2674071 RGD:1563988 HGNC:30166 "ENST00000644631.4|NM_001145450.3" +HGNC:29807 MORN3 MORN repeat containing 3 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 2006-01-17 2015-08-25 283385 ENSG00000139714 OTTHUMG00000169075 uc001uax.4 BC057760 NM_173855 CCDS31917 Q6PF18 25248657 MGI:1922140 RGD:1583091 HGNC:29807 "ENST00000355329.7|NM_173855.5" +HGNC:24001 MORN4 MORN repeat containing 4 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "bA548K23.4|FLJ25925|rtp" "44050 protein|retinophilin homolog (Drosophila)" C10orf83 chromosome 10 open reading frame 83 2004-03-04 2008-06-23 2008-06-23 2015-07-15 118812 ENSG00000171160 OTTHUMG00000018861 uc057vgc.1 AJ431726 NM_178832 CCDS7468 Q8NDC4 "22496551|25822849" MGI:2449568 RGD:1307336 617736 HGNC:24001 "ENST00000307450.11|NM_178832.4" +HGNC:17841 MORN5 MORN repeat containing 5 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 FLJ46909 "C9orf113|C9orf18" "chromosome 9 open reading frame 113|chromosome 9 open reading frame 18" 2002-01-29 2008-06-23 2008-06-23 2016-10-05 254956 ENSG00000185681 OTTHUMG00000020599 uc004blw.4 AK128877 NM_198469 "CCDS6836|CCDS75894" Q5VZ52 MGI:1922745 RGD:1307739 HGNC:17841 "ENST00000373764.8|NM_198469.4" HGNC:17841 +HGNC:7199 MOS MOS proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 8q12.1 08q12.1 v-mos Moloney murine sarcoma viral oncogene homolog 2001-06-22 2016-12-06 2016-12-06 4342 ENSG00000172680 OTTHUMG00000164299 uc011leb.2 NM_005372 CCDS6164 P00540 9552420 MGI:97052 RGD:3103 190060 objectId:2108 HGNC:7199 "ENST00000311923.1|NM_005372.1" +HGNC:27087 MOSMO modulator of smoothened protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "ATTHOG|BC030336" Attenuator of Hedgehog C16orf52 chromosome 16 open reading frame 52 2005-04-04 2018-01-22 2018-01-22 2022-01-10 730094 ENSG00000185716 OTTHUMG00000131587 uc002dkd.3 BC027604 NM_001164579 CCDS58431 Q8NHV5 29290584 MGI:2446240 RGD:7606925 HGNC:27087 "ENST00000542527.7|NM_001164579.2" +HGNC:25235 MOSPD1 motile sperm domain containing 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 dJ473B4 2004-02-23 2015-08-25 56180 ENSG00000101928 OTTHUMG00000035315 uc004eyb.4 Z83826 NM_019556 "CCDS14645|CCDS78507" Q9UJG1 15533722 MGI:1917630 RGD:1359486 300674 HGNC:25235 "ENST00000370783.8|NM_019556.3" +HGNC:28381 MOSPD2 motile sperm domain containing 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MGC26706 2004-02-23 2020-04-02 158747 ENSG00000130150 OTTHUMG00000021170 uc004cwi.4 AL834345 NM_152581 "CCDS14162|CCDS83457" Q8NHP6 15533722 MGI:1924013 RGD:1563952 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MOSPD2 HGNC:28381 "ENST00000380492.8|NM_152581.4" HGNC:28381 +HGNC:25078 MOSPD3 motile sperm domain containing 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CDS3|NET30" 2004-02-23 2016-10-05 64598 ENSG00000106330 OTTHUMG00000159599 uc003uvq.4 BC011653 NM_023948 "CCDS5701|CCDS47662" O75425 15533722 MGI:1916179 RGD:1304973 609125 HGNC:25078 "ENST00000393950.7|NM_023948.5" +HGNC:7200 MOV10 Mov10 RISC complex RNA helicase protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "gb110|MGC2948|fSAP113" functional spliceosome-associated protein 113 "Mov10 (Moloney leukemia virus 10, mouse) homolog|Mov10, Moloney leukemia virus 10, homolog (mouse)" UPF1 like RNA helicases 1169 1996-12-19 2014-07-02 2014-11-19 4343 ENSG00000155363 OTTHUMG00000011906 uc001ecn.5 AL833353 NM_020963 "CCDS853|CCDS65615" Q9HCE1 12226669 MGI:97054 RGD:1598327 610742 HGNC:7200 "ENST00000369645.6|NM_001321324.2" +HGNC:7201 MOV10L1 Mov10 like RISC complex RNA helicase 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "DJ402G11.8|DKFZp434B0717|CHAMP" cardiac helicase activated by MEF2C protein "Mov10 (mouse)-like 1|Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)|Mov10 RISC complex RNA helicase like 1" UPF1 like RNA helicases 1169 2000-05-31 2018-06-07 2018-06-07 54456 ENSG00000073146 OTTHUMG00000044648 uc062fjb.1 AF285604 NM_018995 "CCDS54542|CCDS14084|CCDS54543|CCDS54541" Q9BXT6 11279525 MGI:1891384 RGD:1304735 605794 HGNC:7201 "ENST00000262794.10|NM_018995.3" +HGNC:21063 MOXD1 monooxygenase DBH like 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "DKFZP564G202|MOX|dJ248E1.1" monooxygenase, DBH-like 1 2003-06-20 2016-04-06 2016-04-06 26002 ENSG00000079931 OTTHUMG00000055853 uc003qdf.4 AY007239 NM_015529 CCDS5152 Q6UVY6 9751809 MGI:1921582 RGD:1310033 609000 HGNC:21063 "ENST00000367963.8|NM_015529.4" +HGNC:33605 MOXD2P monooxygenase DBH like 2, pseudogene pseudogene pseudogene Approved 7q34 07q34 MOXD2 monooxygenase, DBH-like 2 pseudogene 2007-08-16 2010-09-24 2019-02-19 2020-01-08 100289017 ENSG00000240268 OTTHUMG00000158566 NR_024346 A6NHM9 MGI:2388042 RGD:1564286 HGNC:33605 +HGNC:21606 MPC1 mitochondrial pyruvate carrier 1 protein-coding gene gene with protein product Approved 6q27 06q27 "dJ68L15.3|CGI-129|SLC54A1" BRP44L brain protein 44-like Solute carriers 752 2003-06-26 2012-07-30 2012-07-30 2021-05-26 51660 ENSG00000060762 OTTHUMG00000015999 uc063svb.1 AF125101 NM_016098 "CCDS5293|CCDS75547" Q9Y5U8 22628558 MGI:1915240 RGD:620902 614738 456998 objectId:3022 HGNC:21606 "ENST00000360961.11|NM_016098.4" HGNC:21606 +HGNC:55366 MPC1-DT MPC1 divergent transcript non-coding RNA RNA, long non-coding Approved 6q27 06q27 Divergent transcripts 1990 2020-11-11 2020-11-11 119545625 ENSG00000261420 +HGNC:44205 MPC1L mitochondrial pyruvate carrier 1 like protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 SLC54A3 Solute carriers 752 2012-07-30 2017-05-12 2017-07-14 347411 ENSG00000238205 OTTHUMG00000024105 NM_001195522 CCDS83466 P0DKB6 27317664 RGD:1563528 PGOHUM00000241717 objectId:3024 HGNC:44205 "ENST00000423387.4|NM_001195522.3" +HGNC:24515 MPC2 mitochondrial pyruvate carrier 2 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "DKFZP564B167|SLC54A2" BRP44 brain protein 44 Solute carriers 752 2005-05-24 2012-07-30 2012-07-30 2017-06-19 25874 ENSG00000143158 OTTHUMG00000034570 uc001ges.4 NM_015415 CCDS1266 O95563 "3022128|22628558" MGI:1917706 RGD:1563422 614737 470680 objectId:3023 HGNC:24515 "ENST00000271373.9|NM_001143674.4" +HGNC:7207 MPDU1 mannose-P-dolichol utilization defect 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "SL15|Lec35|PQLC5|CDGIf|SLC66A5" Solute carriers 752 1999-05-25 2019-04-30 9526 ENSG00000129255 OTTHUMG00000108147 uc002ghw.4 AF038961 NM_001330073 "CCDS82054|CCDS11115" O75352 "8663248|9653160|11733564" MGI:1346040 RGD:1307699 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 604041 123458 objectId:3164 HGNC:7207 "ENST00000250124.11|NM_004870.4" HGNC:7207 +HGNC:7208 MPDZ multiple PDZ domain crumbs cell polarity complex component protein-coding gene gene with protein product Approved 9p23 09p23 MUPP1 multiple PDZ domain protein "PDZ domain containing|Crumbs complex" "1220|1223" 1998-12-16 2016-02-22 2016-02-22 8777 ENSG00000107186 OTTHUMG00000021031 uc003zlb.5 AF093419 NM_003829 "CCDS59119|CCDS83342|CCDS59120|CCDS47951" O75970 MGI:1343489 RGD:3105 603785 323471 HGNC:7208 "ENST00000319217.12|NM_001378778.1" HGNC:7208 +HGNC:29619 MPEG1 macrophage expressed 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 MPG1 macrophage expressed gene 1 2008-12-02 2020-04-01 219972 ENSG00000197629 OTTHUMG00000162676 uc001nnu.5 AK097211 NM_001039396 CCDS41650 Q2M385 "7888681|23257510" MGI:1333743 RGD:69275 610390 HGNC:29619 "ENST00000361050.4|NM_001039396.2" +HGNC:7211 MPG N-methylpurine DNA glycosylase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MDG alkyladenine DNA glycosylase DNA glycosylases 1024 1989-12-11 2015-06-23 2015-08-25 4350 ENSG00000103152 OTTHUMG00000047887 uc002cfm.4 NM_001015052 "CCDS32346|CCDS42087|CCDS32345" P29372 1874728 MGI:97073 RGD:3106 156565 3.2.2.21 HGNC:7211 "ENST00000356432.8|NM_001015052.3" HGNC:7211 +HGNC:7214 MPHOSPH6 M-phase phosphoprotein 6 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 MPP6 2000-05-12 2014-11-19 10200 ENSG00000135698 OTTHUMG00000137632 uc002fgw.4 X98263 NM_005792 CCDS10937 Q99547 8885239 MGI:1915783 RGD:1591222 605500 HGNC:7214 "ENST00000258169.9|NM_005792.2" +HGNC:55377 MPHOSPH6-DT MPHOSPH6 divergent transcript non-coding RNA RNA, long non-coding Approved 16q23.3 16q23.3 Divergent transcripts 1990 2020-11-12 2020-11-12 119545631 ENSG00000261029 +HGNC:54549 MPHOSPH6P1 MPHOSPH6 pseudogene 1 pseudogene pseudogene Approved 1p36.12 01p36.12 2019-10-11 2019-10-11 107985102 ENSG00000271428 HGNC:54549 +HGNC:29810 MPHOSPH8 M-phase phosphoprotein 8 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "mpp8|HSMPP8" Ankyrin repeat domain containing 403 2007-08-24 2014-11-19 54737 ENSG00000196199 OTTHUMG00000016498 uc001umh.4 "AK056785|AJ293409" NM_017520 CCDS9287 Q99549 8885239 MGI:1922589 RGD:1305133 611626 HGNC:29810 "ENST00000361479.10|NM_017520.4" +HGNC:7215 MPHOSPH9 M-phase phosphoprotein 9 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 MPP9 2000-05-12 2016-10-05 10198 ENSG00000051825 OTTHUMG00000168849 uc001uel.5 X98258 NM_022782 CCDS9243 Q99550 8885239 MGI:2443138 RGD:1598368 605501 HGNC:7215 "ENST00000606320.6|NM_022782.4" +HGNC:7213 MPHOSPH10 M-phase phosphoprotein 10 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "MPP10|MPP10P|CT90|PPP1R106" "protein phosphatase 1, regulatory subunit 106|U3 small nucleolar ribonucleoprotein" M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) "Protein phosphatase 1 regulatory subunits|MPP10 subcomplex" "694|1486" 2000-05-12 2016-01-12 2016-01-12 10199 ENSG00000124383 OTTHUMG00000129715 uc002sht.3 X98494 NM_005791 CCDS1916 O00566 "8885239|9450966" MGI:1915223 RGD:1307633 605503 HGNC:7213 "ENST00000244230.7|NM_005791.3" +HGNC:55687 MPHOSPH10P1 MPHOSPH10 pseudogene 1 pseudogene pseudogene Approved 16q12.2 16q12.2 2021-07-05 2021-07-05 643802 ENSG00000260078 NR_171055 +HGNC:55688 MPHOSPH10P2 MPHOSPH10 pseudogene 2 pseudogene pseudogene Approved 15q13.3 15q13.3 2021-07-05 2021-07-05 107987215 ENSG00000254912 PGOHUM00000292897 +HGNC:55689 MPHOSPH10P3 MPHOSPH10 pseudogene 3 pseudogene pseudogene Approved 15q13.2 15q13.2 2021-07-05 2021-07-05 100652840 ENSG00000283345 NG_032729 PGOHUM00000293172 +HGNC:55690 MPHOSPH10P4 MPHOSPH10 pseudogene 4 pseudogene pseudogene Approved 15q11.2 15q11.2 2021-07-05 2021-07-05 100631265 ENSG00000258797 NG_029293 PGOHUM00000292792 +HGNC:55691 MPHOSPH10P5 MPHOSPH10 pseudogene 5 pseudogene pseudogene Approved 15q11.2 15q11.2 2021-07-05 2021-07-05 100631267 ENSG00000277505 NG_029298 PGOHUM00000292844 +HGNC:55693 MPHOSPH10P6 MPHOSPH10 pseudogene 6 pseudogene pseudogene Approved 15q11.2 15q11.2 2021-07-05 2022-01-17 105376698 ENSG00000260399 PGOHUM00000292848 +HGNC:55694 MPHOSPH10P7 MPHOSPH10 pseudogene 7 pseudogene pseudogene Approved 15q13.1 15q13.1 2021-07-05 2022-01-17 100533850 ENSG00000261497 NG_028900 PGOHUM00000292858 +HGNC:55695 MPHOSPH10P8 MPHOSPH10 pseudogene 8 pseudogene pseudogene Approved 15q13.1 15q13.1 2021-07-05 2022-01-17 100631268 NG_029299 +HGNC:55696 MPHOSPH10P9 MPHOSPH10 pseudogene 9 pseudogene pseudogene Approved 15q11.2 15q11.2 2021-07-05 2022-01-17 100631266 ENSG00000275363 NG_029294 PGOHUM00000293126 +HGNC:7216 MPI mannose phosphate isomerase protein-coding gene gene with protein product Approved 15q24.1 15q24.1 mannose-6-phosphate isomerase 2001-06-22 2015-08-25 4351 ENSG00000178802 OTTHUMG00000142826 uc002azc.3 NM_001289155 "CCDS73758|CCDS73757|CCDS10272|CCDS81908|CCDS73756" P34949 MGI:97075 RGD:3107 Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/ 154550 123463 5.3.1.8 HGNC:7216 "ENST00000352410.9|NM_002435.3" HGNC:7216 +HGNC:13937 MPIG6B megakaryocyte and platelet inhibitory receptor G6b protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G6b|NG31|G6b-B" C6orf25 chromosome 6 open reading frame 25 2002-04-05 2017-01-04 2017-01-04 2021-04-13 80739 ENSG00000204420 OTTHUMG00000031130 uc003nwk.4 NM_138272 "CCDS34406|CCDS34405|CCDS4716|CCDS4715|CCDS34407|CCDS4717" O95866 "10384126|11544253" MGI:2146995 RGD:1303269 LRG_1003|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1003.xml 606520 HGNC:13937 "ENST00000649779.1|NM_138272.3" HGNC:13937 +HGNC:7217 MPL MPL proto-oncogene, thrombopoietin receptor protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "CD110|TPOR|THPOR" myeloproliferative leukemia virus oncogene "CD molecules|Fibronectin type III domain containing" "471|555" 1990-09-10 2014-06-26 2021-05-26 4352 ENSG00000117400 OTTHUMG00000007429 uc001ciw.4 M90102 NM_005373 CCDS483 P40238 1608974 MGI:97076 RGD:1311069 LRG_510|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_510.xml MPL 159530 123465 objectId:1722 CD110 HGNC:7217 "ENST00000372470.9|NM_005373.3" HGNC:7217 +HGNC:16002 MPLKIP M-phase specific PLK1 interacting protein protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "ORF20|TTDN1" C7orf11 chromosome 7 open reading frame 11 2002-02-13 2012-03-01 2012-03-01 2021-04-13 136647 ENSG00000168303 OTTHUMG00000128797 uc003thl.5 AX048113 NM_138701 CCDS5463 Q8TAP9 11829489 MGI:1913558 RGD:1584365 LRG_468|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_468.xml 609188 119113 HGNC:16002 "ENST00000306984.8|NM_138701.4" HGNC:16002 +HGNC:25934 MPND MPN domain containing protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ14981 JAMM/MPN+ metallopeptidase family 999 2007-02-02 2014-11-18 84954 ENSG00000008382 OTTHUMG00000181914 uc002mae.3 NM_032868 "CCDS42470|CCDS74261|CCDS54200" Q8N594 MGI:1915297 RGD:1589335 HGNC:25934 "ENST00000599840.6|NM_001300862.2" +HGNC:7218 MPO myeloperoxidase protein-coding gene gene with protein product Approved 17q22 17q22 2001-06-22 2021-05-26 4353 ENSG00000005381 OTTHUMG00000178922 uc002ivu.1 NM_000250 CCDS11604 P05164 MGI:97137 RGD:1592081 "MPObase: Mutation registry for Myeloperoxidase deficiency|http://structure.bmc.lu.se/idbase/MPObase/|LRG_84|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_84.xml" 606989 123468 objectId:2789 1.11.1.7 HGNC:7218 "ENST00000225275.4|NM_000250.2" +HGNC:7219 MPP1 MAGUK p55 scaffold protein 1 protein-coding gene gene with protein product Approved Xq28 Xq28 PEMP DXS552E "membrane protein, palmitoylated 1 (55kD)|membrane protein, palmitoylated 1, 55kDa|membrane protein, palmitoylated 1|membrane palmitoylated protein 1" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1992-03-24 2021-09-16 2021-09-16 4354 ENSG00000130830 OTTHUMG00000024244 uc004fmp.3 NM_002436 "CCDS55544|CCDS55545|CCDS14762" Q00013 1713685 MGI:105941 RGD:1594331 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MPP1 305360 470682 HGNC:7219 "ENST00000369534.8|NM_002436.4" +HGNC:7220 MPP2 MAGUK p55 scaffold protein 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 DKFZp761D0712 "MAGUK p55 subfamily member 2|discs large, homolog 2" DLG2 "membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)|membrane protein, palmitoylated 2|membrane palmitoylated protein 2" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-05-04 2021-09-16 2021-09-16 4355 ENSG00000108852 OTTHUMG00000133840 uc032fjg.2 NM_005374 "CCDS62208|CCDS11471|CCDS62207|CCDS62209|CCDS62210|CCDS62206" Q14168 7590743 MGI:1858257 RGD:620014 600723 470210 HGNC:7220 "ENST00000269095.9|NM_005374.5" +HGNC:7221 MPP3 MAGUK p55 scaffold protein 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MAGUK p55 subfamily member 3|discs, large (Drosophila) homolog 3|membrane protein palmitoylated 3" DLG3 "membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)|membrane protein, palmitoylated 3|membrane palmitoylated protein 3" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-05-04 2021-09-16 2021-09-16 4356 ENSG00000161647 OTTHUMG00000133838 uc002iei.5 NM_001932 "CCDS82135|CCDS42344" Q13368 8824795 MGI:1328354 RGD:620015 601114 HGNC:7221 "ENST00000398389.9|NM_001932.6" +HGNC:13680 MPP4 MAGUK p55 scaffold protein 4 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 DLG6 "membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)|membrane protein, palmitoylated 4|membrane palmitoylated protein 4" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 2000-10-23 2021-09-16 2021-09-16 58538 ENSG00000082126 OTTHUMG00000154525 uc002uyk.5 AF316032 NM_033066 CCDS46491 Q96JB8 11414766 MGI:2386681 RGD:620016 606575 HGNC:13680 "ENST00000409474.8|NM_033066.3" +HGNC:26542 MPP7 MAGUK p55 scaffold protein 7 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 FLJ32798 "membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)|membrane protein, palmitoylated 7|membrane palmitoylated protein 7" "Membrane associated guanylate kinases|PDZ domain containing|MicroRNA protein coding host genes" "904|1220|1691" 2004-01-15 2021-09-16 2021-09-16 143098 ENSG00000150054 OTTHUMG00000017868 uc001iub.2 BC038105 NM_173496 CCDS7158 Q5T2T1 14719143 MGI:1922989 RGD:1305675 610973 HGNC:26542 "ENST00000683449.1|NM_001318170.2" +HGNC:54139 MPP7-DT MPP7 divergent transcript non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Divergent transcripts 1990 2018-12-06 2018-12-06 105376466 ENSG00000282996 XR_930770 HGNC:54139 +HGNC:15988 MPPE1 metallophosphoesterase 1 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "PGAP5|Cdc1" post-GPI attachment to proteins 5 2003-10-17 2019-08-30 65258 ENSG00000154889 OTTHUMG00000131661 uc002kqf.5 BC002877 NM_023075 "CCDS82242|CCDS56054|CCDS11853" Q53F39 "11978971|19837036" MGI:2661311 RGD:1309184 611900 HGNC:15988 "ENST00000588072.6|NM_023075.6" +HGNC:20143 MPPE1P1 metallophosphoesterase 1 pseudogene 1 pseudogene pseudogene Approved 14q31.3 14q31.3 MPPE1P metallophosphoesterase 1 pseudogene 2003-11-13 2013-09-20 2013-09-20 2020-04-20 390501 ENSG00000258990 OTTHUMG00000170891 NG_022846 PGOHUM00000247880 HGNC:20143 +HGNC:1306 MPPED1 metallophosphoesterase domain containing 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "239AB|FAM1A" C22orf1 chromosome 22 open reading frame 1 1998-08-06 2005-10-10 2005-10-10 2020-09-17 758 ENSG00000186732 OTTHUMG00000150566 uc062exv.1 U84894 NM_001044370 CCDS46723 O15442 "9266672|10591208" MGI:106316 RGD:1308244 602112 HGNC:1306 "ENST00000443721.2|NM_001044370.2" +HGNC:1180 MPPED2 metallophosphoesterase domain containing 2 protein-coding gene gene with protein product Approved 11p14.1 11p14.1 "239FB|D11S302E|Hs.46638|FAM1B|dJ873F21.1|dJ1024C24.1" C11orf8 chromosome 11 open reading frame 8 1998-08-06 2005-10-10 2005-10-10 2020-09-17 744 ENSG00000066382 OTTHUMG00000166159 uc001msr.4 U57911 NM_001584 "CCDS7870|CCDS44560" Q15777 "8666403|9266672" MGI:1924265 RGD:735060 600911 HGNC:1180 "ENST00000358117.10|NM_001584.3" +HGNC:53909 MPPED2-AS1 MPPED2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p14.1 11p14.1 RP5-1024C24.1 Antisense RNAs 1987 2018-05-24 2018-06-07 105376609 ENSG00000254489 OTTHUMG00000166160 XR_001748163 29783666 HGNC:53909 +HGNC:30321 MPRIP myosin phosphatase Rho interacting protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "RHOIP3|M-RIP|p116Rip" Rho interacting protein 3 Pleckstrin homology domain containing 682 2008-06-02 2014-11-19 23164 ENSG00000133030 OTTHUMG00000059276 uc002gqu.3 BC014102 NM_015134 "CCDS32578|CCDS42268" Q6WCQ1 10048485 MGI:1349438 RGD:619947 612935 HGNC:30321 "ENST00000651222.2|NM_001364716.4" +HGNC:41263 MPRIP-AS1 MPRIP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 MPRIP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-02 2012-08-15 2014-11-18 100874529 ENSG00000225442 OTTHUMG00000059279 uc060buu.1 BG548937 MPRIP-AS1 +HGNC:44594 MPRIPP1 myosin phosphatase Rho interacting protein pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 2012-11-19 2012-11-19 100421374 ENSG00000214820 OTTHUMG00000156454 NG_025573 PGOHUM00000250236 HGNC:44594 +HGNC:7223 MPST mercaptopyruvate sulfurtransferase protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "MST|TST2|TUM1" "human liver rhodanese|tRNA thiouridin modification protein 1" 1997-05-22 2016-10-05 4357 ENSG00000128309 OTTHUMG00000150543 uc003aql.5 X59434 NM_001013440 "CCDS46703|CCDS13939" P25325 1953758 MGI:2179733 RGD:620065 602496 objectId:1446 2.8.1.2 HGNC:7223 "ENST00000429360.6|NM_021126.8" +HGNC:48364 MPTX1 mucosal pentraxin 1 (pseudogene) pseudogene pseudogene Approved 1q23.2 01q23.2 Short pentraxins 1143 2013-05-13 2014-03-12 649458 ENSG00000215846 OTTHUMG00000037179 NG_027744 A8MV57 MGI:1913539 RGD:1590926 PGOHUM00000245032 HGNC:48364 +HGNC:7224 MPV17 mitochondrial inner membrane protein MPV17 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 SYM1 glomerulosclerosis MpV17 transgene, murine homolog, glomerulosclerosis 1994-03-21 2018-08-15 2021-05-26 4358 ENSG00000115204 OTTHUMG00000097074 uc002rjs.4 NM_002437 CCDS1748 P39210 "8281143|16582910" MGI:97138 RGD:1310512 137960 123470 HGNC:7224 "ENST00000380044.6|NM_002437.5" HGNC:7224 +HGNC:26827 MPV17L MPV17 mitochondrial inner membrane protein like protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "FLJ39599|MLPH1|MLPH2|MPV17L1" 2006-05-12 2016-03-15 2016-03-15 255027 ENSG00000156968 OTTHUMG00000129882 uc002ddn.3 DQ004255 NM_173803 "CCDS45421|CCDS10560" Q2QL34 16631601 MGI:2135951 RGD:2324483 618100 HGNC:26827 "ENST00000396385.4|NM_001128423.2" +HGNC:28177 MPV17L2 MPV17 mitochondrial inner membrane protein like 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FKSG24|MGC12972" 2009-04-06 2016-03-15 2016-03-15 84769 ENSG00000254858 OTTHUMG00000165628 uc002nid.4 AK094091 NM_032683 CCDS42522 Q567V2 24948607 MGI:2681846 RGD:1308064 616133 HGNC:28177 "ENST00000599612.3|NM_032683.3" +HGNC:54962 MPV17L2P1 MPV17L2 pseudogene 1 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 101060056 ENSG00000234413 +HGNC:7225 MPZ myelin protein zero protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "HMSNIB|CMT2I|CMT2J|P0" "CMT1|CMT1B" Charcot-Marie-Tooth neuropathy 1B "V-set domain containing|Ig-like cell adhesion molecule family" "590|1410" 1990-04-27 2008-08-01 2021-05-26 4359 ENSG00000158887 OTTHUMG00000034341 uc001gaf.4 BC006491 NM_000530 CCDS1229 P25189 7693129 MGI:103177 RGD:3109 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_256|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_256.xml" 159440 123473 HGNC:7225 "ENST00000533357.5|NM_000530.8" HGNC:7225 +HGNC:7226 MPZL1 myelin protein zero like 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "PZR|FLJ21047" V-set domain containing 590 1999-06-14 2016-01-19 2016-01-19 9019 ENSG00000197965 OTTHUMG00000034571 uc001geo.3 AF087020 NM_024569 "CCDS1264|CCDS44273|CCDS53425" O95297 9792637 MGI:1915731 RGD:1359140 604376 HGNC:7226 "ENST00000359523.7|NM_003953.6" +HGNC:3496 MPZL2 myelin protein zero like 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 EVA EVA1 epithelial V-like antigen 1 "V-set domain containing|Ig-like cell adhesion molecule family" "590|1410" 1999-11-22 2007-08-01 2016-01-19 2021-05-26 10205 ENSG00000149573 OTTHUMG00000166967 uc001psn.4 AF275945 NM_005797 CCDS8393 O60487 9585423 MGI:1289160 RGD:1307196 604873 HGNC:3496 "ENST00000278937.7|NM_005797.4" HGNC:3496 +HGNC:27279 MPZL3 myelin protein zero like 3 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 V-set domain containing 590 2007-07-30 2016-01-19 2016-01-19 196264 ENSG00000160588 OTTHUMG00000166966 uc001psm.5 AK095399 NM_198275 "CCDS8392|CCDS66241" Q6UWV2 17273165 MGI:2442647 RGD:1310980 611707 HGNC:27279 "ENST00000278949.9|NM_198275.3" +HGNC:4975 MR1 major histocompatibility complex, class I-related protein-coding gene gene with protein product Approved 1q25.3 01q25.3 HLALS major histocompatibility complex, class I-like sequence "C1-set domain containing|Minor histocompatibility antigens" "591|870" 1995-12-20 2003-03-07 2003-03-05 2014-11-19 3140 ENSG00000153029 OTTHUMG00000035175 uc001goq.2 AF010446 NM_001531 "CCDS53441|CCDS53440|CCDS53442|CCDS1342" Q95460 "7624800|9784382" MGI:1195463 RGD:1593291 600764 HGNC:4975 "ENST00000367580.6|NM_001385161.1" +HGNC:1304 MRAP melanocortin 2 receptor accessory protein protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "B27|FALP" C21orf61 chromosome 21 open reading frame 61 2000-08-22 2005-02-07 2005-02-01 2020-09-17 56246 ENSG00000170262 OTTHUMG00000085309 uc002ypj.4 AF454915 NM_178817 "CCDS13613|CCDS13612" Q8TCY5 "12036298|15654338" MGI:1924287 RGD:1310648 609196 123478 HGNC:1304 "ENST00000303645.10|NM_001379228.1" HGNC:1304 +HGNC:40108 MRAP-AS1 MRAP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 Antisense RNAs 1987 2019-08-16 2019-08-16 105372779 ENSG00000232623 OTTHUMG00000085304 XR_937664 HGNC:40108 +HGNC:21232 MRAP2 melanocortin 2 receptor accessory protein 2 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 bA51G5.2 C6orf117 chromosome 6 open reading frame 117 2003-05-29 2008-07-16 2008-07-16 2016-10-05 112609 ENSG00000135324 OTTHUMG00000015121 uc003pkg.5 AK090775 NM_138409 CCDS5001 Q96G30 MGI:3609239 RGD:1309873 615410 HGNC:21232 "ENST00000257776.5|NM_138409.4" +HGNC:7227 MRAS muscle RAS oncogene homolog protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "M-RAs|R-RAS3|RRAS3" RAS type GTPase family 389 1999-09-29 2015-09-03 22808 ENSG00000158186 OTTHUMG00000159888 uc003esh.5 AF022080 NM_001085049 "CCDS3100|CCDS58855" O14807 "9400994|10446149" MGI:1100856 RGD:3111 608435 HGNC:7227 "ENST00000423968.7|NM_001085049.3" HGNC:7227 +HGNC:7228 MRC1 mannose receptor C-type 1 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 "CLEC13D|CD206|bA541I19.1|CLEC13DL" macrophage mannose receptor MRC1L1 "mannose receptor, C type 1-like 1|mannose receptor, C type 1" "CD molecules|Scavenger receptors|C-type lectin domain containing|MicroRNA protein coding host genes" "471|1253|1298|1691" 1992-07-30 2016-11-30 2016-11-30 4360 ENSG00000260314 OTTHUMG00000174646 uc031ptj.2 J05550 NM_002438 CCDS7123 P22897 1294118 MGI:97142 RGD:1309353 153618 CD206 HGNC:7228 "ENST00000569591.3|NM_002438.4" +HGNC:16875 MRC2 mannose receptor C type 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "KIAA0709|ENDO180|CLEC13E|CD280" "C-type lectin domain family 13 member E|endocytic receptor 180" mannose receptor, C type 2 "CD molecules|C-type lectin domain containing" "471|1298" 2002-09-24 2016-04-01 2019-04-16 9902 ENSG00000011028 OTTHUMG00000179178 uc002jad.5 AB014609 NM_006039 CCDS11634 Q9UBG0 "9734811|8702911" MGI:107818 RGD:1559436 612264 CD280 HGNC:16875 "ENST00000303375.10|NM_006039.5" +HGNC:7230 MRE11 MRE11 homolog, double strand break repair nuclease protein-coding gene gene with protein product Approved 11q21 11q21 ATLD AT-like disease MRE11A "MRE11 meiotic recombination 11 homolog A (S. cerevisiae)|MRE11 homolog A, double strand break repair nuclease" "BRCA1 C complex|MRN complex|MicroRNA protein coding host genes" "1336|1344|1691" 1995-05-05 2016-09-30 2016-09-30 2021-05-26 4361 ENSG00000020922 OTTHUMG00000167780 uc001peu.4 BC063458 NM_005591 "CCDS81617|CCDS8298|CCDS8299" P49959 "8530104|24316220" MGI:1100512 RGD:69263 "MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)|http://structure.bmc.lu.se/idbase/MRE11Abase/|LRG_85|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_85.xml" 600814 123483 HGNC:7230 "ENST00000323929.8|NM_005591.4" HGNC:7230 +HGNC:7231 MRE11P1 MRE11 homolog, double strand break repair nuclease pseudogene 1 pseudogene pseudogene Approved 3q25.31 03q25.31 MRE11B "meiotic recombination (S. cerevisiae) 11 homolog B|MRE11 meiotic recombination 11 homolog B (S. cerevisiae)|MRE11 double strand break repair nuclease B (pseudogene)|MRE11 homolog B, double strand break repair nuclease (pseudogene)" 1997-10-10 2016-09-30 2016-09-30 2016-10-05 4362 ENSG00000242537 OTTHUMG00000158550 AF307006 NG_001157 11371508 PGOHUM00000299239 HGNC:7231 +HGNC:25478 MREG melanoregulin protein-coding gene gene with protein product Approved 2q35 02q35 "FLJ10116|DSU|WDT2" 2006-11-10 2014-11-18 55686 ENSG00000118242 OTTHUMG00000154828 uc061sdy.1 AK000978 NM_018000 CCDS46513 Q8N565 "19240024|22275436" MGI:2151839 RGD:1562333 609207 HGNC:25478 "ENST00000263268.11|NM_018000.3" +HGNC:50749 MREGP1 melanoregulin pseudogene 1 pseudogene pseudogene Approved 12p11.21 12p11.21 2014-06-13 2014-06-13 106480304 ENSG00000270395 OTTHUMG00000184737 NG_044292 PGOHUM00000239393 HGNC:50749 +HGNC:24549 MRFAP1 Morf4 family associated protein 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "PAM14|PGR1" 2005-03-07 2011-01-27 2014-11-19 93621 ENSG00000179010 OTTHUMG00000125504 uc003gjg.3 AF116272 NM_033296 CCDS3389 Q9Y605 15367658 MGI:1914818 RGD:628631 616905 HGNC:24549 "ENST00000382581.5|NM_033296.3" +HGNC:28796 MRFAP1L1 Morf4 family associated protein 1 like 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 MGC9651 2005-03-07 2016-02-29 2016-02-29 114932 ENSG00000178988 OTTHUMG00000125507 uc003gjo.5 AF258591 NM_152301 CCDS3392 Q96HT8 12477932 MGI:1914818 HGNC:28796 "ENST00000320848.7|NM_203462.3" +HGNC:55909 MRFAP1P1 MRFAP1 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2021-10-07 2021-10-07 105373384 ENSG00000260081 +HGNC:15866 MRGBP MRG domain binding protein protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ10914|MRG15BP|Eaf7" C20orf20 "chromosome 20 open reading frame 20|MRG/MORF4L binding protein" Tip60/Nua4 histone acetyltransferase complex subunits 1634 2001-06-21 2012-10-29 2016-10-03 2016-10-03 55257 ENSG00000101189 OTTHUMG00000032940 uc002ydi.4 AK001776 NM_018270 CCDS13503 Q9NV56 12963728 MGI:1920497 RGD:1308612 611157 HGNC:15866 "ENST00000370487.5|NM_018270.6" +HGNC:29626 MRGPRD MAS related GPR family member D protein-coding gene gene with protein product Approved 11q13.3 11q13.3 mrgD MAS-related GPR, member D G protein-coupled receptors, Class A orphans 262 2004-03-25 2015-11-23 2015-11-23 116512 ENSG00000172938 OTTHUMG00000167896 uc010rqf.2 AB083627 NM_198923 CCDS31625 Q8TDS7 "11551509|12909716" MGI:3033142 RGD:738040 607231 objectId:152 HGNC:29626 "ENST00000309106.3|NM_198923.2" +HGNC:30694 MRGPRE MAS related GPR family member E protein-coding gene gene with protein product Approved 11p15.4 11p15.4 mrgE GPR167 "G protein-coupled receptor 167|MAS-related GPR, member E" G protein-coupled receptors, Class A orphans 262 2004-03-25 2015-11-23 2018-11-16 116534 ENSG00000184350 OTTHUMG00000011708 uc001lxq.6 AY255572 NM_001039165 CCDS41603 Q86SM8 11551509 MGI:2441884 RGD:738045 607232 objectId:153 HGNC:30694 "ENST00000389832.7|NM_001039165.4" +HGNC:24828 MRGPRF MAS related GPR family member F protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "MGC21621|mrgF" "GPR168|GPR140" "G protein-coupled receptor 168|G protein-coupled receptor 140|MAS-related GPR, member F" G protein-coupled receptors, Class A orphans 262 2004-03-25 2015-11-23 2020-04-20 116535 ENSG00000172935 OTTHUMG00000167897 uc001oop.5 AK075492 NM_145015 CCDS8188 Q96AM1 12477932 MGI:2384823 RGD:708478 607233 objectId:154 HGNC:24828 "ENST00000309099.7|NM_145015.5" +HGNC:51140 MRGPRF-AS1 MRGPRF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.3 11q13.3 Antisense RNAs 1987 2014-07-30 2014-07-30 101928200 ENSG00000256508 OTTHUMG00000172940 NR_120541 MRGPRF-AS1 HGNC:51140 +HGNC:24829 MRGPRG MAS related GPR family member G protein-coding gene gene with protein product Approved 11p15.4 11p15.4 mrgG GPR169 "G protein-coupled receptor 169|MAS-related GPR, member G" G protein-coupled receptors, Class A orphans 262 2004-03-25 2015-11-23 2015-11-23 386746 ENSG00000182170 OTTHUMG00000011709 uc001lxp.2 AY255583 NM_001164377 CCDS44520 Q86SM5 12679517 MGI:3033145 RGD:738044 607234 objectId:155 HGNC:24829 "ENST00000332314.3|NM_001164377.1" +HGNC:26691 MRGPRG-AS1 MRGPRG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 "FLJ36102|HSD-40" C11orf36 "chromosome 11 open reading frame 36|MRGPRG antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-05-13 2012-08-10 2012-08-15 2014-11-18 283303 ENSG00000236301 OTTHUMG00000011707 uc057ybd.1 AK097749 NR_027138 Q2M3A8 MRGPRG-AS1 HGNC:26691 +HGNC:17962 MRGPRX1 MAS related GPR family member X1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 MRGX1 MAS-related GPR, member X1 G protein-coupled receptors, Class A orphans 262 2005-05-09 2015-11-23 2015-11-23 259249 ENSG00000170255 OTTHUMG00000162655 uc001mpg.3 NM_147199 CCDS7846 Q96LB2 11551509 "MGI:2684085|MGI:3033095|MGI:3033100|MGI:3033102|MGI:3033107|MGI:3033109|MGI:3033111|MGI:3033117|MGI:3033119|MGI:3033121|MGI:3033134|MGI:3033139|MGI:3033148|MGI:3821888" RGD:1591915 607227 objectId:156 HGNC:17962 "ENST00000526914.2|NM_001393578.1" +HGNC:17983 MRGPRX2 MAS related GPR family member X2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 MRGX2 MAS-related GPR, member X2 G protein-coupled receptors, Class A orphans 262 2005-05-09 2015-11-23 2015-11-23 117194 ENSG00000183695 OTTHUMG00000166098 uc001mph.4 NM_054030 CCDS7847 Q96LB1 11551509 "MGI:2441674|MGI:2684085|MGI:3033095|MGI:3033100|MGI:3033102|MGI:3033107|MGI:3033109|MGI:3033111|MGI:3033115|MGI:3033117|MGI:3033119|MGI:3033121|MGI:3033134|MGI:3033148|MGI:3588270|MGI:3821888" RGD:738048 607228 objectId:157 HGNC:17983 "ENST00000329773.3|NM_054030.4" +HGNC:17980 MRGPRX3 MAS related GPR family member X3 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 MRGX3 MAS-related GPR, member X3 G protein-coupled receptors, Class A orphans 262 2005-05-09 2015-11-23 2015-11-23 117195 ENSG00000179826 OTTHUMG00000166435 uc001mnu.3 NM_054031 CCDS7830 Q96LB0 11551509 "MGI:2684085|MGI:3033095|MGI:3033100|MGI:3033102|MGI:3033107|MGI:3033109|MGI:3033111|MGI:3033117|MGI:3033119|MGI:3033121|MGI:3033134|MGI:3033139|MGI:3033148|MGI:3821888" RGD:632282 607229 objectId:158 HGNC:17980 "ENST00000621697.2|NM_001370464.1" +HGNC:17617 MRGPRX4 MAS related GPR family member X4 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 MRGX4 MAS-related GPR, member X4 G protein-coupled receptors, Class A orphans 262 2005-05-09 2015-11-23 2015-11-23 117196 ENSG00000179817 OTTHUMG00000166442 uc001mnv.1 AY042216 NM_054032 CCDS7831 Q96LA9 11551509 "MGI:2684085|MGI:3033095|MGI:3033100|MGI:3033102|MGI:3033107|MGI:3033109|MGI:3033111|MGI:3033117|MGI:3033119|MGI:3033121|MGI:3033134|MGI:3033139|MGI:3033148|MGI:3821888" RGD:632284 607230 objectId:159 HGNC:17617 "ENST00000314254.3|NM_054032.3" +HGNC:54329 MRGPRX5P MAS related GPR family member X5, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 390099 ENSG00000255536 OTTHUMG00000166461 NG_021776 PGOHUM00000290416 HGNC:54329 +HGNC:54330 MRGPRX6P MAS related GPR family member X6, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2019-05-10 390098 ENSG00000254541 OTTHUMG00000166460 NG_021775 PGOHUM00000290415 HGNC:54330 +HGNC:54331 MRGPRX7P MAS related GPR family member X7, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2019-05-10 441592 ENSG00000254529 OTTHUMG00000166458 NG_030166 PGOHUM00000290413 HGNC:54331 +HGNC:54332 MRGPRX8P MAS related GPR family member X8, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2020-04-20 100420123 ENSG00000276789 OTTHUMG00000187731 NG_024467 PGOHUM00000290840 HGNC:54332 +HGNC:54333 MRGPRX9P MAS related GPR family member X9, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2020-04-20 100420121 ENSG00000255424 OTTHUMG00000166464 NG_024321 PGOHUM00000290419 HGNC:54333 +HGNC:54334 MRGPRX10P MAS related GPR family member X10, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2019-05-10 390101 ENSG00000254720 OTTHUMG00000166463 NG_030168 PGOHUM00000290418 HGNC:54334 +HGNC:54335 MRGPRX11P MAS related GPR family member X11, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2019-05-10 645415 ENSG00000254738 OTTHUMG00000166462 NG_030167 PGOHUM00000290417 HGNC:54335 +HGNC:54336 MRGPRX12P MAS related GPR family member X12, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2019-05-10 645297 ENSG00000254857 OTTHUMG00000166436 NG_021810 PGOHUM00000290837 HGNC:54336 +HGNC:54337 MRGPRX13P MAS related GPR family member X13, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-10 2019-05-10 2019-05-10 645319 ENSG00000254546 OTTHUMG00000166444 NG_021811 PGOHUM00000290838 HGNC:54337 +HGNC:28469 MRI1 methylthioribose-1-phosphate isomerase 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "MGC3207|Ypr118w|mtnA|MRDI" "mediator of RhoA-dependent invasion|S-methyl-5-thioribose-1-phosphate isomerase 1" methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) 2009-01-15 2013-05-29 2019-08-20 84245 ENSG00000037757 OTTHUMG00000180867 uc002mxe.4 NM_032285 "CCDS12297|CCDS32923" Q9BV20 "15215245|19620624|23124037" MGI:1915123 RGD:1307789 615105 5.3.1.23 HGNC:28469 "ENST00000040663.8|NM_001031727.4" +HGNC:48649 MRLN myoregulin protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "M1|MUSER1|MLN|Linc-RAM" "muscle specific 1|muscle enriched RNA 1|Linc-RNA activator of myogenesis" LINC00948 long intergenic non-protein coding RNA 948 2013-06-03 2015-02-10 2015-02-10 2021-10-06 100507027 ENSG00000227877 OTTHUMG00000018282 "AB019391|BG210823" NM_001304732 CCDS81467 P0DMT0 "25640239|28091529" MGI:1916813 RGD:6490783 616246 HGNC:48649 "ENST00000414264.6|NM_001304731.2" +HGNC:26202 MRM1 mitochondrial rRNA methyltransferase 1 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ22578 mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) SPOUT methyltransferase domain containing 1294 2005-12-13 2015-07-01 2015-09-03 79922 ENSG00000278619 OTTHUMG00000188443 uc032ggy.3 AK026231 NM_024864 CCDS32631 Q6IN84 24036117 MGI:2443470 RGD:1566232 618099 HGNC:26202 "ENST00000614766.5|NM_024864.5" +HGNC:16352 MRM2 mitochondrial rRNA methyltransferase 2 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "FJH1|RRMJ2" "rRNA (uridine-2'-O-)-methyltransferase|MRM2 RNA methyltransferase homolog (S. cerevisiae)" FTSJ2 FtsJ RNA methyltransferase homolog 2 (E. coli) 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2001-11-09 2016-04-12 2016-04-12 2016-10-05 29960 ENSG00000122687 OTTHUMG00000023866 uc003slm.3 AF093415 NM_013393 CCDS5328 Q9UI43 "11827451|25009282" MGI:1915267 RGD:1305944 606906 2.1.1.- HGNC:16352 "ENST00000242257.14|NM_013393.3" +HGNC:18485 MRM3 mitochondrial rRNA methyltransferase 3 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ10581|HC90|RMTL1" RNMTL1 RNA methyltransferase like 1 SPOUT methyltransferase domain containing 1294 2002-04-26 2016-04-12 2016-04-12 2021-03-24 55178 ENSG00000171861 OTTHUMG00000090285 uc002frw.4 AF177344 NM_018146 CCDS10997 Q9HC36 "12296377|25009282" MGI:1914640 RGD:1309077 612600 2.1.1.- HGNC:18485 "ENST00000304478.9|NM_018146.4" +HGNC:44905 MRM3P1 MRM3 pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p12.31 RNMTL1P1 RNA methyltransferase like 1 pseudogene 1 2012-12-18 2021-03-24 2021-03-24 2021-03-24 100420295 ENSG00000231553 OTTHUMG00000017793 NG_025475 PGOHUM00000238693 HGNC:44905 +HGNC:44906 MRM3P2 MRM3 pseudogene 2 pseudogene pseudogene Approved 7p21.1 07p21.1 RNMTL1P2 RNA methyltransferase like 1 pseudogene 2 2012-12-18 2021-03-24 2021-03-24 2021-03-24 100420223 ENSG00000236195 OTTHUMG00000152741 NG_026539 PGOHUM00000233140 HGNC:44906 +HGNC:30817 MRNIP MRN complex interacting protein protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "MGC65027|MGC78537|DKFZp686L2452|LOC51149" "truncated calcium binding protein|MRN-interacting protein" C5orf45 chromosome 5 open reading frame 45 2008-07-02 2016-09-30 2016-09-30 2016-09-30 51149 ENSG00000161010 OTTHUMG00000163490 uc003mla.4 NM_016175 "CCDS34318|CCDS34319" Q6NTE8 27568553 MGI:1915317 RGD:1564036 617154 HGNC:30817 "ENST00000292586.11|NM_016175.4" +HGNC:56030 MRNIP-DT MRNIP divergent transcript non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Divergent transcripts 1990 2021-12-03 2021-12-03 100996419 ENSG00000245317 NR_134283 +HGNC:24121 MRO maestro protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "B29|FLJ30140" "B29 protein|beside the Ma29 deletion" C18orf3 chromosome 18 open reading frame 3 Maestro heat like repeat containing 636 2004-04-26 2004-06-15 2016-10-05 83876 ENSG00000134042 OTTHUMG00000132692 uc002lex.4 AK054702 NM_031939 "CCDS45868|CCDS45869|CCDS11947|CCDS45867" Q9BYG7 11401430 MGI:2152817 RGD:1559803 608080 HGNC:24121 "ENST00000398439.8|NM_031939.6" +HGNC:50323 MROCKI MARCKS cis regulating lncRNA promoter of cytokines and inflammation non-coding RNA RNA, long non-coding Approved 6q21 06q21 "LOC285758|ROCKI" regulator of cytokines and inflammation LINC01268 long intergenic non-protein coding RNA 1268 Long non-coding RNAs with non-systematic symbols 1992 2014-04-10 2019-07-11 2019-07-11 2019-07-11 285758 ENSG00000227502 OTTHUMG00000015405 BC037331 NR_038863 "24821221|28959170|30918008" LINC01268 HGNC:50323 +HGNC:26958 MROH1 maestro heat like repeat family member 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA1833 HEATR7A "HEAT repeat containing 7A|maestro heat-like repeat family member 1" Maestro heat like repeat containing 636 2008-11-21 2012-12-19 2016-01-22 2016-01-22 727957 ENSG00000179832 OTTHUMG00000165781 uc064rjm.1 NM_032450 "CCDS47938|CCDS75803|CCDS47939" Q8NDA8 11347906 MGI:2442558 RGD:1642414 HGNC:26958 "ENST00000326134.10|NM_032450.3" +HGNC:27936 MROH2A maestro heat like repeat family member 2A protein-coding gene gene with protein product Approved 2q37.1 02q37.1 HEATR7B1 "HEAT repeat containing 7B1|maestro heat-like repeat family member 2A" Maestro heat like repeat containing 636 2008-11-21 2012-12-19 2016-01-22 2018-11-16 339766 ENSG00000185038 OTTHUMG00000059037 uc002vvc.2 NM_001287395 A6NES4 12477932 MGI:3705228 RGD:1565687 HGNC:27936 "ENST00000389758.4|NM_001394639.1" +HGNC:26857 MROH2B maestro heat like repeat family member 2B protein-coding gene gene with protein product Approved 5p13.1 05p13.1 "DKFZp781F0822|FLJ40243" HEATR7B2 "HEAT repeat family member 7B2|maestro heat-like repeat family member 2B" Maestro heat like repeat containing 636 2008-11-21 2012-12-19 2016-01-22 2016-01-22 133558 ENSG00000171495 OTTHUMG00000162151 uc003jmj.5 NM_173489 CCDS47202 Q7Z745 12477932 MGI:1921905 RGD:1305413 HGNC:26857 "ENST00000399564.5|NM_173489.5" +HGNC:33122 MROH3P maestro heat like repeat family member 3, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 C1orf81 "chromosome 1 open reading frame 81|maestro heat-like repeat family member 3, pseudogene" Maestro heat like repeat containing 636 2006-09-08 2012-12-19 2016-01-22 2019-02-27 647215 ENSG00000233217 OTTHUMG00000035782 DQ983818 XR_041455 MGI:1923672 HGNC:33122 +HGNC:44902 MROH4P maestro heat like repeat family member 4, pseudogene pseudogene pseudogene Approved 8q24.3 08q24.3 maestro heat-like repeat family member 4, pseudogene Maestro heat like repeat containing 636 2012-12-15 2016-01-22 2019-12-17 101154686 ENSG00000232722 OTTHUMG00000154595 NG_033034 MGI:1916689 HGNC:44902 +HGNC:42976 MROH5 maestro heat like repeat family member 5 (gene/pseudogene) protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ43860 maestro heat-like repeat family member 5 Maestro heat like repeat containing 636 2012-12-16 2019-01-10 2020-05-15 389690 ENSG00000226807 OTTHUMG00000155944 uc064qua.1 NM_207414 Q6ZUA9 MGI:2685474 RGD:1559695 HGNC:42976 +HGNC:27814 MROH6 maestro heat like repeat family member 6 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 C8orf73 "chromosome 8 open reading frame 73|maestro heat-like repeat family member 6" Maestro heat like repeat containing 636 2005-09-23 2012-12-19 2016-01-22 2016-01-22 642475 ENSG00000204839 OTTHUMG00000165164 uc010mff.4 AF289596 NM_001100878 CCDS47928 A6NGR9 12477932 MGI:5011755 RGD:2323632 HGNC:27814 "ENST00000398882.8|NM_001100878.2" +HGNC:24802 MROH7 maestro heat like repeat family member 7 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ46354 "C1orf175|HEATR8" "chromosome 1 open reading frame 175|HEAT repeat containing 8|maestro heat-like repeat family member 7" Maestro heat like repeat containing 636 2005-07-21 2012-12-19 2016-01-22 2016-01-22 374977 ENSG00000184313 OTTHUMG00000009890 uc010ooe.2 AL832492 NM_198547 CCDS41342 Q68CQ1 12477932 MGI:2685873 RGD:1563440 HGNC:24802 "ENST00000421030.7|NM_001039464.4" +HGNC:49180 MROH7-TTC4 MROH7-TTC4 readthrough (NMD candidate) other readthrough Approved 1p32.3 01p32.3 2013-09-25 2013-09-25 100527960 ENSG00000271723 OTTHUMG00000185328 NR_037639 HGNC:49180 +HGNC:16125 MROH8 maestro heat like repeat family member 8 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "dJ621N11.4|dJ621N11.3" hypothetical protein LOC140699 "C20orf131|C20orf132" "chromosome 20 open reading frame 131|chromosome 20 open reading frame 132|maestro heat-like repeat family member 8" Maestro heat like repeat containing 636 2001-07-17 2012-12-19 2016-01-22 2016-10-05 140699 ENSG00000101353 OTTHUMG00000032407 uc061wut.1 AL136172 NM_152503 Q9H579 "11780052|15635413" MGI:3603828 RGD:2321481 HGNC:16125 +HGNC:26287 MROH9 maestro heat like repeat family member 9 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "FLJ23550|ARMC11" C1orf129 "chromosome 1 open reading frame 129|maestro heat-like repeat family member 9" Maestro heat like repeat containing 636 2005-06-29 2012-12-19 2016-01-22 2016-01-22 80133 ENSG00000117501 OTTHUMG00000041456 uc001ghg.4 AK027203 NM_025063 "CCDS53429|CCDS41436" Q5TGP6 MGI:1925508 RGD:1564745 HGNC:26287 "ENST00000367759.9|NM_001163629.2" +HGNC:14275 MRPL1 mitochondrial ribosomal protein L1 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 BM022 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2015-08-25 65008 ENSG00000169288 OTTHUMG00000130200 uc003hku.3 AB049474 NM_020236 CCDS3583 Q9BYD6 MGI:2137202 RGD:1306850 611821 HGNC:14275 "ENST00000315567.13|NM_020236.4" +HGNC:14056 MRPL2 mitochondrial ribosomal protein L2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "MRP-L14|RPML14|CGI-22" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2016-10-05 51069 ENSG00000112651 OTTHUMG00000014719 uc003ots.2 AB051617 NM_001300848 "CCDS75458|CCDS34454" Q5T653 MGI:1351622 RGD:1307147 611822 HGNC:14056 "ENST00000388752.8|NM_015950.5" +HGNC:29698 MRPL2P1 mitochondrial ribosomal protein L2 pseudogene 1 pseudogene pseudogene Approved 12q21.33 12q21.33 2004-10-14 2012-11-14 347894 ENSG00000257480 OTTHUMG00000169948 AY135252 NG_002838 12706105 PGOHUM00000239886 HGNC:29698 +HGNC:10379 MRPL3 mitochondrial ribosomal protein L3 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 MRL3 RPML3 "Mitochondrial ribosomal proteins|Small nucleolar RNA protein coding host genes|Large subunit mitochondrial ribosomal proteins" "646|1835|1994" 1999-09-16 2016-10-05 11222 ENSG00000114686 OTTHUMG00000159607 uc003eoh.4 X06323 NM_007208 CCDS3071 P09001 2891103 MGI:2137204 RGD:1306391 607118 325132 HGNC:10379 "ENST00000264995.8|NM_007208.4" HGNC:10379 +HGNC:29701 MRPL3P1 mitochondrial ribosomal protein L3 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 2010-09-29 2010-09-29 359739 ENSG00000215349 OTTHUMG00000016485 NG_002855 12706105 PGOHUM00000248307 HGNC:29701 +HGNC:14276 MRPL4 mitochondrial ribosomal protein L4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 CGI-28 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2015-08-25 51073 ENSG00000105364 OTTHUMG00000180400 uc060tfq.1 AB049635 NM_015956 "CCDS42499|CCDS12230" Q9BYD3 MGI:2137210 RGD:1311777 611823 HGNC:14276 "ENST00000253099.11|NM_015956.3" +HGNC:14277 MRPL9 mitochondrial ribosomal protein L9 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Mitochondrial ribosomal proteins 646 2001-02-28 2016-10-05 65005 ENSG00000143436 OTTHUMG00000013063 uc001eyv.4 AK026363 NM_031420 "CCDS1003|CCDS72916" Q9BYD2 MGI:2137211 RGD:1359171 611824 HGNC:14277 "ENST00000368830.8|NM_031420.4" +HGNC:29726 MRPL9P1 mitochondrial ribosomal protein L9 pseudogene 1 pseudogene pseudogene Approved 8q21.13 08q21.13 2004-09-22 2017-10-30 137290 ENSG00000254305 OTTHUMG00000164556 NG_001539 12706105 PGOHUM00000303258 HGNC:29726 +HGNC:14055 MRPL10 mitochondrial ribosomal protein L10 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "RPML8|MRP-L8|L10MT|MRP-L10|MRPL8|MGC17973" 39S ribosomal protein L10, mitochondrial "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2016-10-05 124995 ENSG00000159111 OTTHUMG00000156302 uc002ilz.4 AB051618 NM_145255 "CCDS11517|CCDS11516" Q7Z7H8 11551941 MGI:1333801 RGD:1588626 611825 HGNC:14055 "ENST00000351111.7|NM_145255.4" +HGNC:14042 MRPL11 mitochondrial ribosomal protein L11 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2014-11-19 65003 ENSG00000174547 OTTHUMG00000167097 uc001ohz.5 AB051338 NM_016050 "CCDS8140|CCDS44655|CCDS8139" Q9Y3B7 MGI:2137215 RGD:1359665 611826 HGNC:14042 "ENST00000310999.11|NM_016050.5" +HGNC:29694 MRPL11P2 mitochondrial ribosomal protein L11 pseudogene 2 pseudogene pseudogene Approved 5q31.3 05q31.3 2005-06-28 2005-08-09 134008 AY135247 NG_002416 12706105 HGNC:29694 +HGNC:29695 MRPL11P3 mitochondrial ribosomal protein L11 pseudogene 3 pseudogene pseudogene Approved 12q21.2 12q21.2 2004-10-14 2004-10-14 359734 AY135248 NG_002850 12706105 HGNC:29695 +HGNC:10378 MRPL12 mitochondrial ribosomal protein L12 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MRPL7/L12|MRPL7" RPML12 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 1997-02-14 2016-10-05 6182 ENSG00000262814 OTTHUMG00000178171 uc002kbh.3 X79865 NM_002949 CCDS11785 P52815 "8626705|9169145" MGI:1926273 RGD:1588559 602375 470686 HGNC:10378 "ENST00000333676.8|NM_002949.4" +HGNC:14278 MRPL13 mitochondrial ribosomal protein L13 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "L13|RPL13|L13mt|RPML13|L13A" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2016-10-05 28998 ENSG00000172172 OTTHUMG00000165039 uc003ypa.4 AB049640 NM_014078 CCDS6332 Q9BYD1 11543634 MGI:2137218 RGD:1359587 610200 HGNC:14278 "ENST00000306185.8|NM_014078.6" +HGNC:14279 MRPL14 mitochondrial ribosomal protein L14 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "RPML32|MRP-L32" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-18 2016-10-05 64928 ENSG00000180992 OTTHUMG00000014756 uc003owp.4 AB051339 NM_032111 CCDS34460 Q6P1L8 MGI:1333864 RGD:1306240 611827 HGNC:14279 "ENST00000372014.5|NM_032111.4" +HGNC:29696 MRPL14P1 mitochondrial ribosomal protein L14 pseudogene 1 pseudogene pseudogene Approved 17p13.3 17p13.3 2004-09-22 2004-09-22 359735 AY135249 NG_002851 12706105 HGNC:29696 +HGNC:14054 MRPL15 mitochondrial ribosomal protein L15 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "RPML7|MRP-L7|HSPC145|L15mt|MRP-L15" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2016-10-05 29088 ENSG00000137547 OTTHUMG00000164315 uc003xsa.3 AB051619 NM_014175 CCDS6158 Q9P015 11543634 MGI:1351639 RGD:1304796 611828 HGNC:14054 "ENST00000260102.9|NM_014175.4" +HGNC:29697 MRPL15P1 mitochondrial ribosomal protein L15 pseudogene 1 pseudogene pseudogene Approved 15q26.1 15q26.1 2004-09-22 2017-10-30 359736 ENSG00000259441 OTTHUMG00000172017 AY135250 NG_002852 12706105 PGOHUM00000293350 HGNC:29697 +HGNC:14476 MRPL16 mitochondrial ribosomal protein L16 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "FLJ20484|PNAS-111" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2014-11-19 54948 ENSG00000166902 OTTHUMG00000167410 uc001noh.2 AF183428 NM_017840 CCDS7976 Q9NX20 MGI:2137219 RGD:735195 611829 HGNC:14476 "ENST00000300151.5|NM_017840.4" +HGNC:14053 MRPL17 mitochondrial ribosomal protein L17 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "RPML26|MRP-L26" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2020-04-01 63875 ENSG00000158042 OTTHUMG00000165505 uc001men.3 AB051620 NM_022061 CCDS31412 Q9NRX2 MGI:1351608 RGD:70943 611830 HGNC:14053 "ENST00000288937.7|NM_022061.4" +HGNC:14477 MRPL18 mitochondrial ribosomal protein L18 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 HSPC071 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2014-11-19 29074 ENSG00000112110 OTTHUMG00000015942 uc003qsw.5 AF161556 NM_001318817 CCDS5270 Q9H0U6 "11042152|11551941" MGI:1914931 RGD:1306387 611831 HGNC:14477 "ENST00000367034.5|NM_014161.5" +HGNC:14052 MRPL19 mitochondrial ribosomal protein L19 protein-coding gene gene with protein product Approved 2p12 02p12 "MRP-L15|RPML15|KIAA0104|RLX1" 39S ribosomal protein L19 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2016-10-05 9801 ENSG00000115364 OTTHUMG00000129990 uc061law.1 AB051621 NM_014763 CCDS1960 P49406 "11543634|17309879" MGI:1926274 RGD:1587381 611832 HGNC:14052 "ENST00000393909.7|NM_014763.4" +HGNC:14478 MRPL20 mitochondrial ribosomal protein L20 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ10024 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2016-10-05 55052 ENSG00000242485 OTTHUMG00000002916 uc001afo.5 AB049644 NM_017971 CCDS26 Q9BYC9 MGI:2137221 RGD:1588219 611833 HGNC:14478 "ENST00000344843.12|NM_017971.4" +HGNC:27125 MRPL20-AS1 MRPL20 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Antisense RNAs 1987 2018-09-26 2018-09-26 148413 ENSG00000224870 OTTHUMG00000002908 NR_015434 HGNC:27125 +HGNC:54814 MRPL20-DT MRPL20 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Divergent transcripts 1990 2020-01-17 2020-07-16 116435301 ENSG00000272455 NR_170330 32079618 +HGNC:29699 MRPL20P1 mitochondrial ribosomal protein L20 pseudogene 1 pseudogene pseudogene Approved 21q22.13 21q22.13 2008-06-05 2008-06-05 2014-02-12 359737 ENSG00000215734 OTTHUMG00000086645 NG_002853 12706105 PGOHUM00000239173 HGNC:29699 +HGNC:14479 MRPL21 mitochondrial ribosomal protein L21 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2014-11-19 219927 ENSG00000197345 OTTHUMG00000167893 uc001ooi.4 AK096756 NM_181512 "CCDS8186|CCDS44662" Q7Z2W9 11551941 MGI:2660674 RGD:1310203 611834 HGNC:14479 "ENST00000362034.7|NM_181514.2" +HGNC:14480 MRPL22 mitochondrial ribosomal protein L22 protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "MRP-L25|RPML25|HSPC158" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2014-11-19 29093 ENSG00000082515 OTTHUMG00000130190 uc003lvy.5 AB051622 NM_001014990 "CCDS43391|CCDS4331" Q9NWU5 MGI:1333794 RGD:1309277 611835 HGNC:14480 "ENST00000523037.6|NM_014180.4" +HGNC:29700 MRPL22P1 mitochondrial ribosomal protein L22 pseudogene 1 pseudogene pseudogene Approved 4q12 04q12 2010-09-29 2010-09-29 359738 ENSG00000250324 OTTHUMG00000160812 NG_002854 12706105 PGOHUM00000245538 HGNC:29700 +HGNC:10322 MRPL23 mitochondrial ribosomal protein L23 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 L23MRP RPL23L "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 1996-05-15 2015-08-25 6150 ENSG00000214026 OTTHUMG00000012476 uc001lux.4 AB051340 NM_021134 CCDS31336 Q16540 8541832 MGI:1196612 RGD:68343 600789 HGNC:10322 "ENST00000397298.8|NM_021134.4" +HGNC:42812 MRPL23-AS1 MRPL23 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 MRPL23 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-18 2012-08-15 2020-02-28 100133545 ENSG00000226416 OTTHUMG00000012474 uc010qxh.3 NR_024471 32098781 MRPL23-AS1 HGNC:42812 +HGNC:14037 MRPL24 mitochondrial ribosomal protein L24 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 MRP-L18 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2014-11-19 79590 ENSG00000143314 OTTHUMG00000041296 uc001fpw.2 AB051341 NM_145729 CCDS1155 Q96A35 MGI:1914957 RGD:1359289 611836 HGNC:14037 "ENST00000361531.6|NM_145729.3" +HGNC:14483 MRPL27 mitochondrial ribosomal protein L27 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2016-10-05 51264 ENSG00000108826 OTTHUMG00000162062 uc002iqq.4 AB049647 NM_016504 CCDS11564 Q9P0M9 MGI:2137224 RGD:1309090 611837 HGNC:14483 "ENST00000225969.9|NM_016504.3" +HGNC:14484 MRPL28 mitochondrial ribosomal protein L28 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 p15 MAAT1 melanoma-associated antigen recognised by cytotoxic T lymphocytes "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2002-11-13 2016-10-05 10573 ENSG00000086504 OTTHUMG00000047994 uc002cgs.3 U19796 NM_006428 CCDS32349 Q13084 "11551941|19753307" MGI:1915861 RGD:1583741 604853 HGNC:14484 "ENST00000199706.13|NM_006428.5" +HGNC:14036 MRPL30 mitochondrial ribosomal protein L30 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "MRP-L28|RPML28" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2014-11-19 51263 ENSG00000185414 OTTHUMG00000130642 uc002szv.4 AB051342 NM_145212 CCDS2041 Q8TCC3 MGI:1333820 RGD:1308196 611838 HGNC:14036 "ENST00000338148.8|NM_145212.4" +HGNC:29702 MRPL30P1 mitochondrial ribosomal protein L30 pseudogene 1 pseudogene pseudogene Approved 6p12.1 06p12.1 2010-09-29 2017-10-30 359740 ENSG00000276576 OTTHUMG00000187630 NG_002856 12706105 PGOHUM00000301823 HGNC:29702 +HGNC:29703 MRPL30P2 mitochondrial ribosomal protein L30 pseudogene 2 pseudogene pseudogene Approved 12p11.21 12p11.21 2010-09-29 2010-09-29 359817 NG_002912 12706105 PGOHUM00000239725 HGNC:29703 +HGNC:14035 MRPL32 mitochondrial ribosomal protein L32 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "HSPC283|L32mt|MRP-L32|bMRP-59b" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2016-10-05 64983 ENSG00000106591 OTTHUMG00000155180 uc003tia.4 AB051343 NM_031903 CCDS5468 Q9BYC8 11543634 MGI:2137226 RGD:1310541 611839 HGNC:14035 "ENST00000223324.3|NM_031903.3" +HGNC:29704 MRPL32P1 MRPL32 pseudogene 1 pseudogene pseudogene Approved Xp11.23 Xp11.23 mitochondrial ribosomal protein L32 pseudogene 1 2010-09-29 2020-05-07 2020-05-07 359741 ENSG00000220125 OTTHUMG00000048056 NG_002857 12706105 PGOHUM00000241288 HGNC:29704 +HGNC:54964 MRPL32P2 MRPL32 pseudogene 2 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 117751735 ENSG00000229037 NG_070703 +HGNC:14487 MRPL33 mitochondrial ribosomal protein L33 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 RPL33L C2orf1 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2016-10-05 9553 ENSG00000243147 OTTHUMG00000097795 uc002rlm.1 AB051623 NM_004891 "CCDS33167|CCDS1761" O75394 MGI:2137225 RGD:2322809 610059 HGNC:14487 "ENST00000296102.8|NM_004891.4" +HGNC:14488 MRPL34 mitochondrial ribosomal protein L34 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "L34mt|MGC2633|MGC24974" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2020-04-01 64981 ENSG00000130312 OTTHUMG00000182764 uc060vgo.1 AB049652 NM_023937 CCDS12356 Q9BQ48 11543634 MGI:2137227 RGD:1359397 611840 HGNC:14488 "ENST00000252602.2|NM_023937.4" +HGNC:14489 MRPL35 mitochondrial ribosomal protein L35 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2014-11-19 51318 ENSG00000132313 OTTHUMG00000037385 uc002srg.5 AF208849 NM_016622 "CCDS1988|CCDS86858|CCDS1987" Q9NZE8 "11042152|11551941" MGI:1913473 RGD:1307065 611841 HGNC:14489 "ENST00000337109.9|NM_016622.4" +HGNC:29705 MRPL35P1 mitochondrial ribosomal protein L35 pseudogene 1 pseudogene pseudogene Approved 6p23 06p23 2010-09-29 2010-09-29 359742 ENSG00000220868 OTTHUMG00000014281 NG_002858 12706105 PGOHUM00000243490 HGNC:29705 +HGNC:29706 MRPL35P2 mitochondrial ribosomal protein L35 pseudogene 2 pseudogene pseudogene Approved 10q21.3 10q21.3 2010-09-29 2010-09-29 359743 ENSG00000232075 OTTHUMG00000018319 NG_002859 12706105 PGOHUM00000238501 HGNC:29706 +HGNC:23731 MRPL35P3 mitochondrial ribosomal protein L35 pseudogene 3 pseudogene pseudogene Approved 10q22.2 10q22.2 2003-12-04 2014-02-12 359744 ENSG00000226253 OTTHUMG00000018504 AY135263 NG_002860 PGOHUM00000238844 HGNC:23731 +HGNC:29707 MRPL35P4 mitochondrial ribosomal protein L35 pseudogene 4 pseudogene pseudogene Approved Xp22.2 Xp22.2 2010-09-29 2010-09-29 359745 ENSG00000230691 OTTHUMG00000021141 NG_002861 12706105 PGOHUM00000241191 HGNC:29707 +HGNC:14490 MRPL36 mitochondrial ribosomal protein L36 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "RPMJ|L36mt|PRPL36|MRP-L36" 39S ribosomal protein L36, mitochondrial "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2021-03-11 64979 ENSG00000171421 OTTHUMG00000090373 uc063cad.1 AB049654 NM_032479 CCDS3865 Q9P0J6 11543634 MGI:2137228 RGD:1306375 611842 HGNC:14490 "ENST00000505059.7|NM_032479.4" +HGNC:29708 MRPL36P1 mitochondrial ribosomal protein L36 pseudogene 1 pseudogene pseudogene Approved 2p13.3 02p13.3 2004-10-11 2019-10-11 285003 ENSG00000225392 AY135265 NG_002831 12706105 HGNC:29708 +HGNC:14034 MRPL37 mitochondrial ribosomal protein L37 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "RPML2|MRP-L2" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2016-10-05 51253 ENSG00000116221 OTTHUMG00000008118 uc001cxa.4 AB051344 NM_016491 "CCDS81331|CCDS589" Q9BZE1 10600119 MGI:1926268 RGD:619820 611843 HGNC:14034 "ENST00000360840.9|NM_016491.4" +HGNC:31003 MRPL37P1 mitochondrial ribosomal protein L37 pseudogene 1 pseudogene pseudogene Approved 18q21.32 18q21.32 HsT4307 2004-01-06 2020-04-20 100420950 ENSG00000266946 OTTHUMG00000180008 NG_026336 PGOHUM00000235073 HGNC:31003 +HGNC:14033 MRPL38 mitochondrial ribosomal protein L38 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "RPML3|MRP-L3|HSPC262|MGC4810" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2016-10-05 64978 ENSG00000204316 OTTHUMG00000152977 uc010wso.2 AB051345 NM_032478 CCDS11733 Q96DV4 11543634 MGI:1926269 RGD:1311180 611844 HGNC:14033 "ENST00000309352.4|NM_032478.4" +HGNC:14027 MRPL39 mitochondrial ribosomal protein L39 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "RPML5|MRP-L5|MGC104174|PRED66|PRED22|C21orf92|L39mt|MSTP003|MGC3400|FLJ20451" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-02-28 2016-10-05 54148 ENSG00000154719 OTTHUMG00000078371 uc002ylo.4 AB051346 NM_017446 "CCDS33522|CCDS13573" Q9NYK5 11543634 MGI:1351620 RGD:1591507 611845 HGNC:14027 "ENST00000352957.9|NM_017446.4" +HGNC:14491 MRPL40 mitochondrial ribosomal protein L40 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 MRP-L22 NLVCF nuclear localization signal deleted in velocardiofacial syndrome "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2002-11-13 2016-10-05 64976 ENSG00000185608 OTTHUMG00000150136 uc002zpg.4 AB051624 NM_003776 CCDS13760 Q9NQ50 "9790763|11543634" MGI:1332635 RGD:1565444 605089 HGNC:14491 "ENST00000333130.4|NM_003776.4" +HGNC:44532 MRPL40P1 mitochondrial ribosomal protein L40 pseudogene 1 pseudogene pseudogene Approved 12q15 12q15 2012-11-14 2012-11-14 645328 ENSG00000256037 OTTHUMG00000169066 NG_021723 PGOHUM00000239837 HGNC:44532 +HGNC:14492 MRPL41 mitochondrial ribosomal protein L41 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MRP-L27|RPML27|BMRP|PIG3|MRPL27" "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2014-11-19 64975 ENSG00000182154 OTTHUMG00000020987 uc004cnh.5 AB051625 NM_032477 CCDS7046 Q8IXM3 11543634 MGI:1333816 RGD:1310241 611846 HGNC:14492 "ENST00000371443.6|NM_032477.3" +HGNC:14493 MRPL42 mitochondrial ribosomal protein L42 protein-coding gene gene with protein product Approved 12q22 12q22 "MRPS32|MRP-L31|RPML31|PTD007|HSPC204|MRPL31" mitochondrial ribosomal protein S32 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-01-26 2015-03-03 28977 ENSG00000198015 OTTHUMG00000170157 uc001tcs.4 AB051626 NM_014050 CCDS9045 Q9Y6G3 "11279123|11042152" MGI:1333774 RGD:1304915 611847 HGNC:14493 "ENST00000549982.6|NM_014050.4" +HGNC:29710 MRPL42P1 mitochondrial ribosomal protein L42 pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 2004-09-22 2012-11-14 285415 AY135266 NG_002665 12706105 PGOHUM00000261382 HGNC:29710 +HGNC:29711 MRPL42P2 mitochondrial ribosomal protein L42 pseudogene 2 pseudogene pseudogene Approved 6p22.3 06p22.3 2010-09-29 2010-09-29 346116 ENSG00000216364 OTTHUMG00000014298 NG_002907 12706105 PGOHUM00000243494 HGNC:29711 +HGNC:29712 MRPL42P3 mitochondrial ribosomal protein L42 pseudogene 3 pseudogene pseudogene Approved 6q24.2 06q24.2 2010-09-29 2010-09-29 359746 ENSG00000219297 OTTHUMG00000015736 NG_002862 12706105 PGOHUM00000243804 HGNC:29712 +HGNC:29713 MRPL42P4 mitochondrial ribosomal protein L42 pseudogene 4 pseudogene pseudogene Approved 7p12.3 07p12.3 2010-09-29 2010-09-29 346470 ENSG00000242552 OTTHUMG00000155552 NG_002908 12706105 PGOHUM00000232682 HGNC:29713 +HGNC:29714 MRPL42P5 mitochondrial ribosomal protein L42 pseudogene 5 pseudogene pseudogene Approved 15q15.1 15q15.1 2004-01-20 2014-11-19 359821 NG_002914 12706105 PGOHUM00000246757 HGNC:29714 +HGNC:44533 MRPL42P6 mitochondrial ribosomal protein L42 pseudogene 6 pseudogene pseudogene Approved 3q25.1 03q25.1 2012-11-14 2012-11-14 106480794 ENSG00000242810 OTTHUMG00000159862 NG_044124 PGOHUM00000261370 HGNC:44533 +HGNC:14517 MRPL43 mitochondrial ribosomal protein L43 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 bMRP36a "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-05-30 2015-08-25 84545 ENSG00000055950 OTTHUMG00000018920 uc001ksd.2 AB049656 NM_001308396 "CCDS7504|CCDS7503|CCDS76331|CCDS7505|CCDS7502" Q8N983 MGI:2137229 RGD:1307593 611848 HGNC:14517 "ENST00000318364.13|NM_032112.3" +HGNC:16650 MRPL44 mitochondrial ribosomal protein L44 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "FLJ12701|FLJ13990" 39S ribosomal protein L44, mitochondrial "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2021-05-26 65080 ENSG00000135900 OTTHUMG00000133164 uc002vnr.4 AK022763 NM_022915 CCDS2459 Q9H9J2 MGI:1916413 RGD:1309556 611849 356136 HGNC:16650 "ENST00000258383.4|NM_022915.5" HGNC:16650 +HGNC:16651 MRPL45 mitochondrial ribosomal protein L45 protein-coding gene gene with protein product Approved 17q12 17q12 MGC11321 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2016-10-05 84311 ENSG00000278845 OTTHUMG00000188489 uc032gkt.2 BC006235 NM_032351 "CCDS74047|CCDS11326" Q9BRJ2 "11551941|12706105" MGI:1914286 RGD:1304913 611850 HGNC:16651 "ENST00000613675.5|NM_032351.6" +HGNC:29715 MRPL45P1 mitochondrial ribosomal protein L45 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 2010-09-29 2010-09-29 359747 ENSG00000232508 OTTHUMG00000155050 NG_002863 12706105 PGOHUM00000240139 HGNC:29715 +HGNC:29716 MRPL45P2 mitochondrial ribosomal protein L45 pseudogene 2 pseudogene pseudogene Approved 17q21.32 17q21.32 2010-09-29 2020-04-20 653479 ENSG00000228782 NR_033934 12706105 HGNC:29716 +HGNC:1192 MRPL46 mitochondrial ribosomal protein L46 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "LIECG2|P2ECSL" C15orf4 chromosome 15 open reading frame 4 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 1999-12-01 2001-12-14 2001-12-10 2020-09-17 26589 ENSG00000259494 OTTHUMG00000148683 uc002bmj.3 AF210056 NM_022163 CCDS10341 Q9H2W6 "11761714|11551941" MGI:1914558 RGD:1309123 611851 HGNC:1192 "ENST00000312475.5|NM_022163.4" +HGNC:16652 MRPL47 mitochondrial ribosomal protein L47 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "CGI-204|NCM1" nasopharyngeal carcinoma metastasis-related 1 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2014-11-19 57129 ENSG00000136522 OTTHUMG00000157784 uc003fjz.5 AF285120 NM_020409 "CCDS3232|CCDS3233" Q9HD33 11551941 MGI:1921850 RGD:1307531 611852 HGNC:16652 "ENST00000476781.6|NM_020409.3" +HGNC:16653 MRPL48 mitochondrial ribosomal protein L48 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 CGI-118 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2012-09-13 51642 ENSG00000175581 OTTHUMG00000168048 uc001ouh.5 AF151876 NM_016055 "CCDS44676|CCDS81594" Q96GC5 10810093 MGI:1289321 RGD:1307576 611853 HGNC:16653 "ENST00000310614.12|NM_016055.6" +HGNC:21379 MRPL48P1 mitochondrial ribosomal protein L48 pseudogene 1 pseudogene pseudogene Approved 6p24.3 06p24.3 "MRPL48L1|dJ290I10.4" 2003-06-11 2014-11-18 221717 ENSG00000238076 OTTHUMG00000014231 AY135273 NG_002430 PGOHUM00000243061 HGNC:21379 +HGNC:1176 MRPL49 mitochondrial ribosomal protein L49 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "NOF|NOF1|L49mt" "neighbor of FAU|next to FAU" C11orf4 chromosome 11 open reading frame 4 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 1998-08-06 2001-10-19 2001-10-16 2020-09-17 740 ENSG00000149792 OTTHUMG00000165608 uc001oda.3 NM_004927 CCDS8096 Q13405 8786148 MGI:108180 RGD:1309920 606866 HGNC:1176 "ENST00000279242.7|NM_004927.4" +HGNC:29717 MRPL49P1 mitochondrial ribosomal protein L49 pseudogene 1 pseudogene pseudogene Approved 5q12.3 05q12.3 2010-09-29 2010-09-29 359748 ENSG00000224296 OTTHUMG00000162389 NG_002864 12706105 PGOHUM00000251370 HGNC:29717 +HGNC:29718 MRPL49P2 mitochondrial ribosomal protein L49 pseudogene 2 pseudogene pseudogene Approved 8p22 08p22 2004-09-22 2012-11-14 346711 ENSG00000253934 OTTHUMG00000163856 AY135275 NG_002836 12706105 PGOHUM00000249581 HGNC:29718 +HGNC:16654 MRPL50 mitochondrial ribosomal protein L50 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "FLJ20493|MRP-L50" mitochondrial 39S ribosomal protein L50 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2015-08-25 54534 ENSG00000136897 OTTHUMG00000020384 uc004bbe.3 AK000500 NM_019051 CCDS6753 Q8N5N7 MGI:107329 RGD:1308008 611854 HGNC:16654 "ENST00000374865.5|NM_019051.3" +HGNC:29719 MRPL50P1 mitochondrial ribosomal protein L50 pseudogene 1 pseudogene pseudogene Approved 2p22.3 02p22.3 2004-09-22 2012-11-14 351143 ENSG00000234587 OTTHUMG00000152145 AY135276 NG_002841 12706105 PGOHUM00000240012 HGNC:29719 +HGNC:29720 MRPL50P2 mitochondrial ribosomal protein L50 pseudogene 2 pseudogene pseudogene Approved 2q33.2 02q33.2 2010-09-29 2010-09-29 359749 ENSG00000238285 OTTHUMG00000154584 NG_002865 12706105 PGOHUM00000240492 HGNC:29720 +HGNC:29721 MRPL50P3 mitochondrial ribosomal protein L50 pseudogene 3 pseudogene pseudogene Approved 5q35.3 05q35.3 2010-09-29 2010-09-29 359750 NG_002866 12706105 PGOHUM00000235858 HGNC:29721 +HGNC:29722 MRPL50P4 mitochondrial ribosomal protein L50 pseudogene 4 pseudogene pseudogene Approved 10q21.2 10q21.2 2010-09-29 2010-09-29 359751 ENSG00000235469 OTTHUMG00000018281 NG_002867 12706105 PGOHUM00000238498 HGNC:29722 +HGNC:14044 MRPL51 mitochondrial ribosomal protein L51 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CDA09|HSPC241|bMRP64" MRP64 mitochondrial ribosomal protein 64 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-05-29 2002-01-11 2002-01-07 2016-01-15 51258 ENSG00000111639 OTTHUMG00000168512 uc001qom.3 AB051355 NM_016497 CCDS8547 Q4U2R6 "11551941|11543634" MGI:1913743 RGD:1306686 611855 HGNC:14044 "ENST00000229238.5|NM_016497.4" +HGNC:29723 MRPL51P1 mitochondrial ribosomal protein L51 pseudogene 1 pseudogene pseudogene Approved 4p15.2 04p15.2 2004-09-27 2004-09-27 351773 AY135280 NG_002843 12706105 HGNC:29723 +HGNC:29724 MRPL51P2 mitochondrial ribosomal protein L51 pseudogene 2 pseudogene pseudogene Approved 21q22.3 21q22.3 2004-09-27 2017-05-31 343819 ENSG00000232777 OTTHUMG00000086843 AY135281 NG_002834 12706105 PGOHUM00000297270 HGNC:29724 +HGNC:16655 MRPL52 mitochondrial ribosomal protein L52 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2014-11-19 122704 ENSG00000172590 OTTHUMG00000028703 uc001wgx.5 AK000450 NM_180982 "CCDS41918|CCDS81791|CCDS41917|CCDS9576|CCDS9575" Q86TS9 "11551941|11943462" MGI:1916086 RGD:1309297 611856 HGNC:16655 "ENST00000397496.7|NM_180982.3" +HGNC:16684 MRPL53 mitochondrial ribosomal protein L53 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2014-11-19 116540 ENSG00000204822 OTTHUMG00000129961 uc002sln.4 BC012163 NM_053050 CCDS1944 Q96EL3 11551941 MGI:1915749 RGD:1306709 611857 HGNC:16684 "ENST00000258105.8|NM_053050.5" +HGNC:29725 MRPL53P1 mitochondrial ribosomal protein L53 pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 2010-09-29 2010-09-29 359752 ENSG00000235299 OTTHUMG00000011904 NG_002868 12706105 PGOHUM00000244146 HGNC:29725 +HGNC:16685 MRPL54 mitochondrial ribosomal protein L54 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2014-11-19 116541 ENSG00000183617 OTTHUMG00000180873 uc002lyq.5 NM_172251 CCDS12111 Q6P161 11551941 MGI:1913297 RGD:1305694 611858 HGNC:16685 "ENST00000330133.5|NM_172251.3" +HGNC:16686 MRPL55 mitochondrial ribosomal protein L55 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-10-12 2018-11-16 128308 ENSG00000162910 OTTHUMG00000037965 uc001hsa.5 AK056987 NM_181454 "CCDS1567|CCDS44325" Q7Z7F7 MGI:1914462 RGD:1308161 611859 HGNC:16686 "ENST00000336520.8|NM_181463.3" +HGNC:14514 MRPL57 mitochondrial ribosomal protein L57 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 MRP63 mitochondrial ribosomal protein 63 "Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins" "646|1994" 2001-05-30 2014-02-10 2014-02-10 2014-11-18 78988 ENSG00000173141 OTTHUMG00000016532 AB049957 NM_024026 CCDS9296 Q9BQC6 23908630 MGI:1915090 RGD:1594654 611997 HGNC:14514 "ENST00000309594.5|NM_024026.5" +HGNC:29686 MRPL57P1 mitochondrial ribosomal protein L57 pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 MRP63P1 mitochondrial ribosomal protein 63 pseudogene 1 2004-09-22 2014-02-10 2014-02-10 2015-06-09 126581 ENSG00000273698 OTTHUMG00000187529 AY135236 NG_002827 12706105 PGOHUM00000295797 HGNC:29686 +HGNC:29687 MRPL57P2 mitochondrial ribosomal protein L57 pseudogene 2 pseudogene pseudogene Approved 1q42.13 01q42.13 MRP63P2 mitochondrial ribosomal protein 63 pseudogene 2 2004-10-11 2014-02-10 2014-02-10 2014-02-10 359729 AY135237 NG_002845 12706105 HGNC:29687 +HGNC:29688 MRPL57P3 mitochondrial ribosomal protein L57 pseudogene 3 pseudogene pseudogene Approved 3p21.31 03p21.31 MRP63P3 mitochondrial ribosomal protein 63 pseudogene 3 2004-09-22 2014-02-10 2014-02-10 2015-06-09 359730 ENSG00000275940 OTTHUMG00000187555 AY135238 NG_002846 12706105 PGOHUM00000299426 HGNC:29688 +HGNC:29689 MRPL57P6 mitochondrial ribosomal protein L57 pseudogene 6 pseudogene pseudogene Approved 5q34 05q34 MRP63P6 mitochondrial ribosomal protein 63 pseudogene 6 2004-09-22 2014-02-10 2014-02-10 2015-06-09 134490 ENSG00000249449 OTTHUMG00000163327 AY135241 NG_002829 12706105 PGOHUM00000301174 HGNC:29689 +HGNC:29690 MRPL57P7 mitochondrial ribosomal protein L57 pseudogene 7 pseudogene pseudogene Approved 8q22.2 08q22.2 MRP63P7 mitochondrial ribosomal protein 63 pseudogene 7 2004-10-14 2014-02-10 2014-02-10 2015-06-09 359731 ENSG00000254312 OTTHUMG00000164653 AY135242 NG_002847 12706105 PGOHUM00000303320 HGNC:29690 +HGNC:29691 MRPL57P8 mitochondrial ribosomal protein L57 pseudogene 8 pseudogene pseudogene Approved 14q13.2 14q13.2 MRP63P8 mitochondrial ribosomal protein 63 pseudogene 8 2004-10-11 2014-02-10 2014-02-10 2017-10-30 359732 ENSG00000282625 OTTHUMG00000191401 AY135243 NG_002848 12706105 HGNC:29691 +HGNC:29692 MRPL57P9 mitochondrial ribosomal protein L57 pseudogene 9 pseudogene pseudogene Approved 14q22.1 14q22.1 MRP63P9 mitochondrial ribosomal protein 63 pseudogene 9 2004-09-22 2014-02-10 2014-02-10 2014-02-10 359733 AY135244 NG_002849 12706105 HGNC:29692 +HGNC:23965 MRPL57P10 mitochondrial ribosomal protein L57 pseudogene 10 pseudogene pseudogene Approved Yp11.2 Yp11.2 MRP63P10 mitochondrial ribosomal protein 63 pseudogene 10 2004-09-22 2014-02-10 2014-02-10 2014-02-10 347587 AY135245 NG_002837 12706105 HGNC:23965 +HGNC:5359 MRPL58 mitochondrial ribosomal protein L58 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 DS-1 ICT1 immature colon carcinoma transcript 1 "Large subunit mitochondrial ribosomal proteins| Mitochondrial translation release factor family" "1994|2044" 1998-02-18 2016-06-06 2016-06-06 2016-11-16 3396 ENSG00000167862 OTTHUMG00000179218 uc002jmm.4 X81788 NM_001545 CCDS11711 Q14197 "8575443|20186120|27029019" MGI:1915822 RGD:1307942 603000 3.1.1.29 HGNC:5359 "ENST00000301585.10|NM_001545.3" +HGNC:14495 MRPS2 mitochondrial ribosomal protein S2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 CGI-91 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2021-05-26 51116 ENSG00000122140 OTTHUMG00000020910 uc004cfv.6 AB051627 NM_001371401 CCDS6990 Q9Y399 MGI:2153089 RGD:1309116 611971 HGNC:14495 "ENST00000241600.10|NM_016034.5" HGNC:14495 +HGNC:14498 MRPS5 mitochondrial ribosomal protein S5 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 "MRP-S5|S5mt" mitochondrial 28S ribosomal protein S5 Mitochondrial ribosomal proteins 646 2001-01-26 2016-10-05 64969 ENSG00000144029 OTTHUMG00000130394 uc002sub.4 AB049940 NM_031902 CCDS2010 P82675 MGI:1924971 RGD:1308318 611972 470688 HGNC:14498 "ENST00000272418.7|NM_031902.5" +HGNC:29778 MRPS5P3 mitochondrial ribosomal protein S5 pseudogene 3 pseudogene pseudogene Approved 5q23.2 05q23.2 2004-10-11 2011-02-09 133615 ENSG00000214743 OTTHUMG00000163027 AY135348 NG_002662 12706105 PGOHUM00000251331 HGNC:29778 +HGNC:29779 MRPS5P4 mitochondrial ribosomal protein S5 pseudogene 4 pseudogene pseudogene Approved 18q21.32 18q21.32 2004-09-27 2012-11-14 359797 ENSG00000266915 OTTHUMG00000179958 AY135349 NG_002900 12706105 PGOHUM00000235080 HGNC:29779 +HGNC:14051 MRPS6 mitochondrial ribosomal protein S6 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "MRP-S6|RPMS6" C21orf101 chromosome 21 open reading frame 101 Mitochondrial ribosomal proteins 646 2001-02-28 2002-06-20 2015-08-25 64968 ENSG00000243927 OTTHUMG00000065820 uc002ytp.2 AB051347 NM_032476 CCDS33548 P82932 MGI:2153111 RGD:2322928 611973 HGNC:14051 "ENST00000399312.3|NM_032476.4" +HGNC:29780 MRPS6P1 mitochondrial ribosomal protein S6 pseudogene 1 pseudogene pseudogene Approved 1p36.11 01p36.11 2010-09-29 2010-09-29 359780 NG_002896 12706105 PGOHUM00000243940 HGNC:29780 +HGNC:29781 MRPS6P2 mitochondrial ribosomal protein S6 pseudogene 2 pseudogene pseudogene Approved 1p32.3 01p32.3 2010-09-29 2010-09-29 359781 ENSG00000237130 OTTHUMG00000007929 NG_002897 12706105 PGOHUM00000244714 HGNC:29781 +HGNC:29782 MRPS6P4 mitochondrial ribosomal protein S6 pseudogene 4 pseudogene pseudogene Approved 12q21.33 12q21.33 2010-09-29 2017-10-30 359782 ENSG00000257820 OTTHUMG00000169911 NG_002898 12706105 PGOHUM00000291758 HGNC:29782 +HGNC:14499 MRPS7 mitochondrial ribosomal protein S7 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "MRP-S|RP-S7|RPMS7" Mitochondrial ribosomal proteins 646 2001-01-26 2020-04-01 51081 ENSG00000125445 OTTHUMG00000179484 uc002jnm.5 AB051348 NM_015971 CCDS11718 Q9Y2R9 MGI:1354367 RGD:1309164 611974 460660 HGNC:14499 "ENST00000245539.11|NM_015971.4" HGNC:14499 +HGNC:29783 MRPS7P1 mitochondrial ribosomal protein S7 pseudogene 1 pseudogene pseudogene Approved 8p11.23 08p11.23 2010-09-29 2012-10-16 359783 NG_002899 12706105 PGOHUM00000263191 HGNC:29783 +HGNC:29784 MRPS7P2 mitochondrial ribosomal protein S7 pseudogene 2 pseudogene pseudogene Approved 12p13.1 12p13.1 2004-10-11 2004-10-11 341469 AY135355 NG_002833 12706105 HGNC:29784 +HGNC:14501 MRPS9 mitochondrial ribosomal protein S9 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "RPMS9|MRP-S9|S9mt" 28S ribosomal protein S9, mitochondrial Mitochondrial ribosomal proteins 646 2001-01-26 2014-11-19 64965 ENSG00000135972 OTTHUMG00000130807 uc002tcn.5 NM_182640 CCDS2065 P82933 11279123 MGI:1916777 RGD:1306558 611975 HGNC:14501 "ENST00000258455.8|NM_182640.3" +HGNC:40688 MRPS9-AS1 MRPS9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 UTAT33 uterine endometrial carcinoma-associated transcript 33 Antisense RNAs 1987 2019-08-16 2019-08-16 101927492 ENSG00000231851 OTTHUMG00000153078 NR_110227 HGNC:40688 +HGNC:40687 MRPS9-AS2 MRPS9 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 Antisense RNAs 1987 2019-08-16 2019-08-16 102724691 ENSG00000224509 OTTHUMG00000153077 NR_110603 HGNC:40687 +HGNC:14502 MRPS10 mitochondrial ribosomal protein S10 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 FLJ10567 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2014-11-18 55173 ENSG00000048544 OTTHUMG00000014694 uc003osa.5 NM_018141 CCDS4866 P82664 11279123 MGI:1928139 RGD:1311516 611976 HGNC:14502 "ENST00000053468.4|NM_018141.4" +HGNC:29728 MRPS10P1 mitochondrial ribosomal protein S10 pseudogene 1 pseudogene pseudogene Approved 1q24.2 01q24.2 2005-06-28 2012-11-14 359753 ENSG00000235378 OTTHUMG00000035958 AY135284 NG_002869 12706105 PGOHUM00000245080 HGNC:29728 +HGNC:29727 MRPS10P2 mitochondrial ribosomal protein S10 pseudogene 2 pseudogene pseudogene Approved 3p26.1 03p26.1 "MRPS10P3|MRPS10P4" 2005-06-28 2012-11-14 359802 ENSG00000234325 OTTHUMG00000154995 AY135286 NG_002903 12706105 PGOHUM00000237523 HGNC:29727 +HGNC:29729 MRPS10P5 mitochondrial ribosomal protein S10 pseudogene 5 pseudogene pseudogene Approved 9p12 09p12 2005-06-28 2005-08-09 359754 AY135288 NG_002870 12706105 HGNC:29729 +HGNC:14050 MRPS11 mitochondrial ribosomal protein S11 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "FLJ23406|HCC-2|FLJ22512" cervical cancer proto-oncogene 2 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-02-28 2016-10-05 64963 ENSG00000181991 OTTHUMG00000148678 uc002bml.4 AB051349 NM_022839 "CCDS10342|CCDS10343" P82912 11402041 MGI:1915244 RGD:1559901 611977 HGNC:14050 "ENST00000325844.9|NM_022839.5" +HGNC:16584 MRPS11P1 mitochondrial ribosomal protein S11 pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ746H2.1 2001-09-17 2016-10-05 128774 ENSG00000225803 OTTHUMG00000032012 AL109953 NG_000977 PGOHUM00000247460 HGNC:16584 +HGNC:10380 MRPS12 mitochondrial ribosomal protein S12 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "RPS12|RPSM12" RPMS12 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 1997-04-10 2016-11-16 6183 ENSG00000128626 OTTHUMG00000182692 uc002okc.4 Y11681 NM_021107 CCDS12525 O15235 "9545647|9790755" MGI:1346333 RGD:1306221 603021 HGNC:10380 "ENST00000308018.9|NM_033362.4" +HGNC:14049 MRPS14 mitochondrial ribosomal protein S14 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 HSMRPS14 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-02-28 2015-08-25 63931 ENSG00000120333 OTTHUMG00000034878 uc001gkk.4 AB051350 NM_022100 CCDS1316 O60783 MGI:1928141 RGD:1309432 611978 HGNC:14049 "ENST00000476371.1|NM_022100.3" +HGNC:14504 MRPS15 mitochondrial ribosomal protein S15 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ11564 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2015-08-25 64960 ENSG00000116898 OTTHUMG00000008042 uc001cas.3 AB049946 NM_031280 CCDS411 P82914 MGI:1913657 RGD:1359675 611979 HGNC:14504 "ENST00000373116.6|NM_031280.4" +HGNC:29730 MRPS15P1 mitochondrial ribosomal protein S15 pseudogene 1 pseudogene pseudogene Approved 15q24.1 15q24.1 2010-09-29 2017-10-30 359755 ENSG00000259186 OTTHUMG00000172554 NG_002871 12706105 PGOHUM00000293011 HGNC:29730 +HGNC:29731 MRPS15P2 mitochondrial ribosomal protein S15 pseudogene 2 pseudogene pseudogene Approved 19q13.31 19q13.31 2010-09-29 2010-09-29 359756 OTTHUMG00000182355 NG_002872 12706105 PGOHUM00000234717 HGNC:29731 +HGNC:14048 MRPS16 mitochondrial ribosomal protein S16 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 CGI-132 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-02-28 2021-05-26 51021 ENSG00000182180 OTTHUMG00000018454 uc001jts.1 AB051351 NM_016065 CCDS7323 Q9Y3D3 10810093 MGI:1913492 RGD:1582995 609204 267232 HGNC:14048 "ENST00000372945.8|NM_016065.4" HGNC:14048 +HGNC:29732 MRPS16P1 mitochondrial ribosomal protein S16 pseudogene 1 pseudogene pseudogene Approved 8q21.3 08q21.3 2004-10-11 2012-11-14 137406 ENSG00000229182 OTTHUMG00000164065 AY135292 NG_002648 12706105 PGOHUM00000249744 HGNC:29732 +HGNC:16541 MRPS16P2 mitochondrial ribosomal protein S16 pseudogene 2 pseudogene pseudogene Approved 20q13.32 20q13.32 bA379F14.1 MRPS16P mitochondrial ribosomal protein S16 pseudogene 2001-09-17 2012-11-14 2012-11-14 2014-11-19 128609 ENSG00000232925 OTTHUMG00000032863 NG_000968 PGOHUM00000247683 HGNC:16541 +HGNC:29733 MRPS16P3 mitochondrial ribosomal protein S16 pseudogene 3 pseudogene pseudogene Approved 22q12.3 22q12.3 2004-09-27 2012-11-14 338388 ENSG00000226336 OTTHUMG00000150587 AY135294 NG_002649 12706105 PGOHUM00000246577 HGNC:29733 +HGNC:14047 MRPS17 mitochondrial ribosomal protein S17 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "HSPC011|RPMS17|MRP-S17" 28S ribosomal protein S17, mitochondrial "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-02-28 2016-10-05 51373 ENSG00000239789 OTTHUMG00000023153 uc003trd.4 AB051352 NM_015969 CCDS5520 Q9Y2R5 11279123 MGI:1913508 RGD:1307650 611980 HGNC:14047 "ENST00000285298.9|NM_015969.3" +HGNC:29734 MRPS17P1 mitochondrial ribosomal protein S17 pseudogene 1 pseudogene pseudogene Approved 1p34.1 01p34.1 2005-06-28 2013-02-15 359803 ENSG00000268949 OTTHUMG00000008584 AY135296 NG_004092 12706105 PGOHUM00000244000 HGNC:29734 +HGNC:29736 MRPS17P3 mitochondrial ribosomal protein S17 pseudogene 3 pseudogene pseudogene Approved 3p12.3 03p12.3 2010-09-29 2010-09-29 359757 ENSG00000239226 OTTHUMG00000158844 NG_002873 12706105 PGOHUM00000238080 HGNC:29736 +HGNC:29737 MRPS17P5 mitochondrial ribosomal protein S17 pseudogene 5 pseudogene pseudogene Approved 6q22.33 06q22.33 2010-09-29 2017-10-30 359758 ENSG00000274493 OTTHUMG00000187641 NG_002874 12706105 PGOHUM00000301944 HGNC:29737 +HGNC:29738 MRPS17P6 mitochondrial ribosomal protein S17 pseudogene 6 pseudogene pseudogene Approved 14q11.2 14q11.2 2010-09-29 2010-09-29 359759 NG_002875 12706105 HGNC:29738 +HGNC:29735 MRPS17P7 mitochondrial ribosomal protein S17 pseudogene 7 pseudogene pseudogene Approved 18q21.31 18q21.31 2005-06-28 2012-11-14 342776 AY135298 NG_004091 12706105 PGOHUM00000234938 HGNC:29735 +HGNC:29739 MRPS17P9 mitochondrial ribosomal protein S17 pseudogene 9 pseudogene pseudogene Approved Xq24 Xq24 2010-09-29 2010-09-29 359760 ENSG00000227814 OTTHUMG00000022270 NG_002876 12706105 PGOHUM00000250086 HGNC:29739 +HGNC:14515 MRPS18A mitochondrial ribosomal protein S18A protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "FLJ10548|MRPS18-3" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-05-30 2016-10-05 55168 ENSG00000096080 OTTHUMG00000014750 uc003ovy.3 AB049952 NM_018135 "CCDS4906|CCDS55006" Q9NVS2 "11279123|11543634" MGI:1915815 RGD:735229 611981 HGNC:14515 "ENST00000372133.8|NM_018135.4" +HGNC:29740 MRPS18AP1 mitochondrial ribosomal protein S18A pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 2010-09-29 2012-10-16 359761 ENSG00000229759 OTTHUMG00000156829 NG_002877 12706105 PGOHUM00000263114 HGNC:29740 +HGNC:14516 MRPS18B mitochondrial ribosomal protein S18B protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "MRPS18-2|PTD017|C6orf14|HSPC183" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-05-30 2020-04-20 28973 ENSG00000204568 OTTHUMG00000031268 uc063ynd.1 AF100761 NM_014046 CCDS4682 Q9Y676 11279123 MGI:1914223 RGD:1302998 611982 HGNC:14516 "ENST00000259873.5|NM_014046.4" +HGNC:29741 MRPS18BP1 mitochondrial ribosomal protein S18B pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 2010-09-29 2014-11-19 359762 ENSG00000226013 OTTHUMG00000037077 NG_002878 12706105 HGNC:29741 +HGNC:29742 MRPS18BP2 mitochondrial ribosomal protein S18B pseudogene 2 pseudogene pseudogene Approved 2q22.1 02q22.1 2010-09-29 2010-09-29 359763 ENSG00000235232 OTTHUMG00000153647 NG_002879 12706105 PGOHUM00000240966 HGNC:29742 +HGNC:16633 MRPS18C mitochondrial ribosomal protein S18C protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "MRPS18-1|CGI-134|FLJ11146|FLJ22967" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-09-20 2016-10-05 51023 ENSG00000163319 OTTHUMG00000130430 uc003hor.5 NM_001297767 "CCDS75159|CCDS77933|CCDS3604" Q9Y3D5 "11279123|10810093" MGI:1915985 RGD:1307997 611983 HGNC:16633 "ENST00000295491.9|NM_016067.4" +HGNC:29743 MRPS18CP2 MRPS18C pseudogene 2 pseudogene pseudogene Approved 8p23.1 08p23.1 mitochondrial ribosomal protein S18C pseudogene 2 2004-09-22 2020-05-07 2020-05-07 286043 AY135308 NG_002666 12706105 PGOHUM00000249225 HGNC:29743 +HGNC:29744 MRPS18CP3 MRPS18C pseudogene 3 pseudogene pseudogene Approved 8p22 08p22 mitochondrial ribosomal protein S18C pseudogene 3 2010-09-29 2020-05-07 2020-05-07 359764 NG_002880 12706105 PGOHUM00000249584 HGNC:29744 +HGNC:29745 MRPS18CP4 MRPS18C pseudogene 4 pseudogene pseudogene Approved 12p13.1 12p13.1 mitochondrial ribosomal protein S18C pseudogene 4 2004-09-22 2020-05-07 2020-05-07 349842 ENSG00000255763 OTTHUMG00000168654 AY135310 NG_002839 12706105 PGOHUM00000239684 HGNC:29745 +HGNC:29746 MRPS18CP5 MRPS18C pseudogene 5 pseudogene pseudogene Approved 15q12 15q12 mitochondrial ribosomal protein S18C pseudogene 5 2010-09-29 2020-05-07 2020-05-07 359765 NG_002881 12706105 PGOHUM00000251169 HGNC:29746 +HGNC:29747 MRPS18CP6 MRPS18C pseudogene 6 pseudogene pseudogene Approved 22q13.31 22q13.31 mitochondrial ribosomal protein S18C pseudogene 6 2004-09-27 2020-05-07 2020-05-07 343901 ENSG00000228807 OTTHUMG00000150467 AY135312 NG_002835 12706105 PGOHUM00000246350 HGNC:29747 +HGNC:44530 MRPS18CP7 MRPS18C pseudogene 7 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 100288560 ENSG00000235916 OTTHUMG00000021621 NG_029336 PGOHUM00000241787 +HGNC:14046 MRPS21 mitochondrial ribosomal protein S21 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-02-28 2016-10-05 54460 ENSG00000266472 OTTHUMG00000012544 uc001euk.5 AB051353 NM_018997 CCDS950 P82921 MGI:1913542 RGD:1592330 611984 HGNC:14046 "ENST00000614145.5|NM_031901.6" +HGNC:29748 MRPS21P1 mitochondrial ribosomal protein S21 pseudogene 1 pseudogene pseudogene Approved 1p31.3 01p31.3 2004-09-27 2012-11-14 199900 ENSG00000234496 OTTHUMG00000009308 AY135313 NG_002663 12706105 PGOHUM00000244058 HGNC:29748 +HGNC:29749 MRPS21P2 mitochondrial ribosomal protein S21 pseudogene 2 pseudogene pseudogene Approved 1q23.1 01q23.1 2006-01-17 2012-11-14 359766 ENSG00000227425 OTTHUMG00000022446 NG_002882 12706105 PGOHUM00000245021 HGNC:29749 +HGNC:29750 MRPS21P3 mitochondrial ribosomal protein S21 pseudogene 3 pseudogene pseudogene Approved 1q31.3 01q31.3 2006-01-17 2012-11-14 359767 ENSG00000221879 OTTHUMG00000035662 NG_002883 12706105 PGOHUM00000245145 HGNC:29750 +HGNC:29751 MRPS21P4 mitochondrial ribosomal protein S21 pseudogene 4 pseudogene pseudogene Approved 9p13.1 09p13.1 2006-01-17 2006-01-17 359768 NG_002884 12706105 HGNC:29751 +HGNC:29752 MRPS21P5 mitochondrial ribosomal protein S21 pseudogene 5 pseudogene pseudogene Approved 10p12.1 10p12.1 2006-01-17 2016-08-16 359769 ENSG00000226395 OTTHUMG00000017865 NG_002885 12706105 HGNC:29752 +HGNC:29753 MRPS21P6 mitochondrial ribosomal protein S21 pseudogene 6 pseudogene pseudogene Approved 10q26.13 10q26.13 2006-01-17 2012-11-14 359770 ENSG00000214298 OTTHUMG00000019225 NG_002886 12706105 PGOHUM00000238964 HGNC:29753 +HGNC:29754 MRPS21P7 mitochondrial ribosomal protein S21 pseudogene 7 pseudogene pseudogene Approved 16q12.1 16q12.1 2006-01-17 2015-08-26 359771 ENSG00000260024 OTTHUMG00000173442 NG_002887 12706105 PGOHUM00000293856 HGNC:29754 +HGNC:29755 MRPS21P8 mitochondrial ribosomal protein S21 pseudogene 8 pseudogene pseudogene Approved 16q12.1 16q12.1 2004-10-11 2015-08-26 350297 ENSG00000259978 OTTHUMG00000173444 AY135320 NG_002840 12706105 PGOHUM00000293857 HGNC:29755 +HGNC:29756 MRPS21P9 mitochondrial ribosomal protein S21 pseudogene 9 pseudogene pseudogene Approved 17q21.33 17q21.33 2006-01-17 2012-11-14 359772 ENSG00000262759 OTTHUMG00000177425 NG_002888 12706105 PGOHUM00000237105 HGNC:29756 +HGNC:14508 MRPS22 mitochondrial ribosomal protein S22 protein-coding gene gene with protein product Approved 3q23 03q23 "MRP-S22|GK002|C3orf5|GIBT" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2021-05-26 56945 ENSG00000175110 OTTHUMG00000159910 uc003etb.4 AF226045 NM_020191 "CCDS3107|CCDS87143" P82650 11175783 MGI:1928137 RGD:1585674 605810 140069 HGNC:14508 "ENST00000680020.1|NM_020191.4" HGNC:14508 +HGNC:29757 MRPS22P1 mitochondrial ribosomal protein S22 pseudogene 1 pseudogene pseudogene Approved Xq21.31 Xq21.31 2010-09-29 2020-05-21 359773 ENSG00000271056 NG_002889 12706105 PGOHUM00000241431 HGNC:29757 +HGNC:14509 MRPS23 mitochondrial ribosomal protein S23 protein-coding gene gene with protein product Approved 17q22 17q22 "MRP-S23|CGI-138|HSPC329" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2016-01-15 51649 ENSG00000181610 OTTHUMG00000178774 uc002ivc.4 AB061206 NM_016070 CCDS11598 Q9Y3D9 11279123 MGI:1928138 RGD:1306963 611985 HGNC:14509 "ENST00000313608.13|NM_016070.4" +HGNC:29758 MRPS23P1 mitochondrial ribosomal protein S23 pseudogene 1 pseudogene pseudogene Approved 7p13 07p13 2004-09-22 2004-09-22 352290 AY135323 NG_002844 12706105 HGNC:29758 +HGNC:14510 MRPS24 mitochondrial ribosomal protein S24 protein-coding gene gene with protein product Approved 7p13 07p13 "MRP-S24|HSPC335" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2016-10-05 64951 ENSG00000062582 OTTHUMG00000023175 uc003tit.2 AB061207 NM_032014 CCDS5473 Q96EL2 "8127713|11279123" MGI:1928142 RGD:1306014 611986 HGNC:14510 "ENST00000317534.6|NM_032014.3" +HGNC:29759 MRPS24P1 mitochondrial ribosomal protein S24 pseudogene 1 pseudogene pseudogene Approved 11p15.4 11p15.4 2004-10-14 2004-10-14 338389 AY135324 NG_002650 12706105 HGNC:29759 +HGNC:14511 MRPS25 mitochondrial ribosomal protein S25 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "MRP-S25|FLJ00023|DKFZp313H0817|RPMS25" mitochondrial 28S ribosomal protein S25 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2016-10-05 64432 ENSG00000131368 OTTHUMG00000129836 uc003bzl.4 AB061208 NM_022497 CCDS2622 P82663 11279123 MGI:1928140 RGD:1308770 611987 HGNC:14511 "ENST00000253686.7|NM_022497.5" HGNC:14511 +HGNC:29760 MRPS25P1 mitochondrial ribosomal protein S25 pseudogene 1 pseudogene pseudogene Approved 4q21.23 04q21.23 2004-09-22 2004-09-22 338390 AY135325 NG_002651 12706105 HGNC:29760 +HGNC:14045 MRPS26 mitochondrial ribosomal protein S26 protein-coding gene gene with protein product Approved 20p13 20p13 "MRP-S13|MRP-S26|RPMS13|dJ534B8.3" C20orf193 chromosome 20 open reading frame 193 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-02-28 2004-09-22 2015-08-25 64949 ENSG00000125901 OTTHUMG00000031721 uc002whs.4 AB051354 NM_030811 CCDS13043 Q9BYN8 11543634 MGI:1333830 RGD:1308733 611988 HGNC:14045 "ENST00000380325.4|NM_030811.4" +HGNC:14512 MRPS27 mitochondrial ribosomal protein S27 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 KIAA0264 "Mitochondrial ribosomal proteins|Pentatricopeptide repeat containing|Small subunit mitochondrial ribosomal proteins" "646|1823|1996" 2001-01-26 2015-08-25 23107 ENSG00000113048 OTTHUMG00000100951 uc003kbz.5 D87453 NM_015084 "CCDS4013|CCDS75257|CCDS68890" Q92552 MGI:1919064 RGD:1311829 611989 HGNC:14512 "ENST00000261413.10|NM_015084.3" +HGNC:14513 MRPS28 mitochondrial ribosomal protein S28 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "MRP-S28|HSPC007|MRPS35" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-01-26 2016-10-05 28957 ENSG00000147586 OTTHUMG00000164642 uc003ybp.4 AB061209 NM_014018 CCDS6226 Q9Y2Q9 "11279123|11042152" MGI:1913480 RGD:1597461 611990 HGNC:14513 "ENST00000276585.9|NM_014018.3" HGNC:14513 +HGNC:8769 MRPS30 mitochondrial ribosomal protein S30 protein-coding gene gene with protein product Approved 5p12 05p12 PAP PDCD9 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 1999-07-30 2001-11-09 2016-10-05 10884 ENSG00000112996 OTTHUMG00000096967 uc003joh.4 AF146192 NM_016640 CCDS3951 Q9NP92 "10640817|11279123" MGI:1926237 RGD:1309697 611991 HGNC:8769 "ENST00000507110.6|NM_016640.4" +HGNC:53420 MRPS30-DT MRPS30 divergent transcript non-coding RNA RNA, long non-coding Approved 5p12 05p12 BRCAT54 breast cancer-associated transcript 54 Divergent transcripts 1990 2017-08-03 2017-08-03 100506674 ENSG00000251141 OTTHUMG00000162143 NR_109862 27640304 HGNC:53420 +HGNC:16632 MRPS31 mitochondrial ribosomal protein S31 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 IMOGN38 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-09-20 2014-11-19 10240 ENSG00000102738 OTTHUMG00000016777 uc001uxm.5 Z68747 NM_005830 CCDS9372 Q92665 "11279123|8567980" MGI:1913153 RGD:1307668 611992 HGNC:16632 "ENST00000323563.8|NM_005830.4" +HGNC:29763 MRPS31P1 mitochondrial ribosomal protein S31 pseudogene 1 pseudogene pseudogene Approved 3p22.1 03p22.1 2004-10-14 2017-10-30 351449 ENSG00000275256 OTTHUMG00000187551 AY135328 NG_002842 12706105 PGOHUM00000299412 HGNC:29763 +HGNC:39252 MRPS31P2 mitochondrial ribosomal protein S31 pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 2010-11-24 2010-11-24 341757 ENSG00000232894 OTTHUMG00000016494 NG_004674 PGOHUM00000248310 HGNC:39252 +HGNC:42649 MRPS31P4 mitochondrial ribosomal protein S31 pseudogene 4 pseudogene pseudogene Approved 13q14.3 13q14.3 2011-08-10 2015-08-26 100885866 ENSG00000250299 OTTHUMG00000187323 HGNC:42649 +HGNC:39253 MRPS31P5 mitochondrial ribosomal protein S31 pseudogene 5 pseudogene pseudogene Approved 13q14.3 13q14.3 MRPS31P3 mitochondrial ribosomal protein S31 pseudogene 3 2010-11-24 2012-11-14 2012-11-14 2012-11-14 100887750 ENSG00000243406 OTTHUMG00000016960 NR_002816 PGOHUM00000248405 HGNC:39253 +HGNC:16634 MRPS33 mitochondrial ribosomal protein S33 protein-coding gene gene with protein product Approved 7q34 07q34 CGI-139 "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-09-20 2015-08-25 51650 ENSG00000090263 OTTHUMG00000157456 uc003vwe.5 AF078858 NM_053035 CCDS5864 Q9Y291 "11279123|10810093" MGI:1338046 RGD:1309217 611993 HGNC:16634 "ENST00000324787.10|NM_053035.3" +HGNC:29764 MRPS33P1 mitochondrial ribosomal protein S33 pseudogene 1 pseudogene pseudogene Approved 1q21.3 01q21.3 2004-09-22 2011-03-17 148330 AY135333 NG_002830 12706105 PGOHUM00000244275 HGNC:29764 +HGNC:29765 MRPS33P2 mitochondrial ribosomal protein S33 pseudogene 2 pseudogene pseudogene Approved 4p14 04p14 2010-09-29 2010-09-29 359775 ENSG00000249649 OTTHUMG00000160426 NG_002891 12706105 PGOHUM00000245498 HGNC:29765 +HGNC:29766 MRPS33P3 mitochondrial ribosomal protein S33 pseudogene 3 pseudogene pseudogene Approved 4q26 04q26 2010-09-29 2010-09-29 359776 ENSG00000251308 OTTHUMG00000161076 NG_002892 12706105 PGOHUM00000246041 HGNC:29766 +HGNC:29767 MRPS33P4 mitochondrial ribosomal protein S33 pseudogene 4 pseudogene pseudogene Approved 20q13.2 20q13.2 2010-09-29 2010-09-29 359777 ENSG00000234821 OTTHUMG00000032758 NG_002893 12706105 PGOHUM00000247675 HGNC:29767 +HGNC:16618 MRPS34 mitochondrial ribosomal protein S34 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MRP-S12|MGC2616" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-09-18 2021-05-26 65993 ENSG00000074071 OTTHUMG00000128636 uc002cmo.4 BC001182 NM_023936 "CCDS73805|CCDS10444" P82930 MGI:1930188 RGD:1305623 611994 HGNC:16618 "ENST00000397375.7|NM_023936.2" HGNC:16618 +HGNC:16635 MRPS35 mitochondrial ribosomal protein S35 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "MRPS28|MDS023" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-09-20 2016-10-05 60488 ENSG00000061794 OTTHUMG00000169215 uc001rih.4 AF182422 NM_021821 "CCDS53769|CCDS8714" P82673 11279123 MGI:2385255 RGD:1306720 611995 HGNC:16635 "ENST00000081029.8|NM_021821.4" +HGNC:55490 MRPS35-DT MRPS35 divergent transcript non-coding RNA RNA, long non-coding Approved 12p11.22 12p11.22 Divergent transcripts 1990 2021-03-12 2021-03-12 107984461 ENSG00000256377 XR_001749448 +HGNC:29768 MRPS35P1 mitochondrial ribosomal protein S35 pseudogene 1 pseudogene pseudogene Approved 3p25.3 03p25.3 2004-09-22 2004-09-22 339910 AY135337 NG_002832 12706105 HGNC:29768 +HGNC:29769 MRPS35P2 mitochondrial ribosomal protein S35 pseudogene 2 pseudogene pseudogene Approved 5q15 05q15 2010-09-29 2010-09-29 359778 ENSG00000250830 OTTHUMG00000162717 NG_002894 12706105 PGOHUM00000235324 HGNC:29769 +HGNC:29770 MRPS35P3 mitochondrial ribosomal protein S35 pseudogene 3 pseudogene pseudogene Approved 10q21.1 10q21.1 2004-09-27 2016-08-15 359779 ENSG00000270192 OTTHUMG00000184649 AY135339 NG_002895 12706105 PGOHUM00000290172 HGNC:29770 +HGNC:16631 MRPS36 mitochondrial ribosomal protein S36 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "DC47|MRP-S36" "Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins" "646|1996" 2001-09-20 2021-10-06 92259 ENSG00000134056 OTTHUMG00000162443 uc003jvq.4 NM_033281 CCDS34174 P82909 11279123 MGI:1913378 RGD:1309315 611996 HGNC:16631 "ENST00000256441.5|NM_033281.6" +HGNC:29771 MRPS36P1 mitochondrial ribosomal protein S36 pseudogene 1 pseudogene pseudogene Approved 3p26.1 03p26.1 2005-06-28 2016-10-05 347705 ENSG00000236152 OTTHUMG00000154924 AY135340 NG_002709 12706105 PGOHUM00000237526 HGNC:29771 +HGNC:29772 MRPS36P2 mitochondrial ribosomal protein S36 pseudogene 2 pseudogene pseudogene Approved 4q35.2 04q35.2 2005-06-28 2016-10-05 347706 ENSG00000249539 OTTHUMG00000160311 AY135341 NG_002711 12706105 PGOHUM00000246158 HGNC:29772 +HGNC:29773 MRPS36P3 mitochondrial ribosomal protein S36 pseudogene 3 pseudogene pseudogene Approved 8q24.13 08q24.13 2005-06-28 2011-07-28 347704 ENSG00000253814 OTTHUMG00000164968 AY135342 NG_002707 12706105 PGOHUM00000249785 HGNC:29773 +HGNC:29774 MRPS36P4 mitochondrial ribosomal protein S36 pseudogene 4 pseudogene pseudogene Approved 11q23.1 11q23.1 2005-06-28 2016-10-05 347702 ENSG00000255231 OTTHUMG00000167157 AY135343 NG_002703 12706105 PGOHUM00000242893 HGNC:29774 +HGNC:29775 MRPS36P5 mitochondrial ribosomal protein S36 pseudogene 5 pseudogene pseudogene Approved 12q12 12q12 2005-03-04 2011-07-28 347703 ENSG00000257927 OTTHUMG00000169351 AY135344 NG_002705 12706105 PGOHUM00000239425 HGNC:29775 +HGNC:29776 MRPS36P6 mitochondrial ribosomal protein S36 pseudogene 6 pseudogene pseudogene Approved 20p12.1 20p12.1 2005-06-28 2011-07-28 347707 AY135345 NG_002713 12706105 PGOHUM00000247447 HGNC:29776 +HGNC:7234 MRRF mitochondrial ribosome recycling factor protein-coding gene gene with protein product Approved 9q33.2 09q33.2 RRF 1999-07-21 2016-10-05 92399 ENSG00000148187 OTTHUMG00000020600 uc010mwa.4 AA115320 NM_138777 "CCDS48013|CCDS55336|CCDS6840|CCDS87684" Q96E11 "9838146|10773675" MGI:1915121 RGD:1305897 604602 HGNC:7234 "ENST00000344641.8|NM_138777.5" +HGNC:35238 MRRFP1 mitochondrial ribosome recycling factor pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 MRRFP mitochondrial ribosome recycling factor pseudogene 2008-10-27 2010-02-26 2010-02-26 2010-02-26 286423 ENSG00000224236 OTTHUMG00000022326 NG_005178 HGNC:35238 +HGNC:13785 MRS2 magnesium transporter MRS2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 MRS2L "MRS2-like, magnesium homeostasis factor (S. cerevisiae)|MRS2 magnesium homeostasis factor homolog (S. cerevisiae)" 2000-11-14 2008-01-18 2018-08-15 2018-08-15 57380 ENSG00000124532 OTTHUMG00000014355 uc003neb.5 AF288288 NM_001286264 "CCDS75408|CCDS69056|CCDS69055|CCDS4552" Q9HD23 MGI:2685748 RGD:708529 619307 HGNC:13785 "ENST00000378386.8|NM_020662.4" +HGNC:20590 MRS2P1 MRS2 pseudogene 1 pseudogene pseudogene Approved 8q24.13 08q24.13 MRS2LP1 "MRS2-like, magnesium homeostasis factor (S. cerevisiae) pseudogene 1|MRS2 magnesium homeostasis factor homolog (S. cerevisiae) pseudogene 1" 2005-10-06 2008-01-18 2013-06-10 2020-04-20 100130448 ENSG00000250428 NG_022435 HGNC:20590 +HGNC:33942 MRS2P2 MRS2 pseudogene 2 pseudogene pseudogene Approved 12q21.1 12q21.1 MRS2 magnesium homeostasis factor homolog (S. cerevisiae) pseudogene 2 2008-01-18 2013-06-10 2020-04-06 729633 ENSG00000257802 OTTHUMG00000169641 NR_024072 PGOHUM00000291402 HGNC:33942 +HGNC:14334 MRTFA myocardin related transcription factor A protein-coding gene gene with protein product Approved 22q13.1-q13.2 22q13.1-q13.2 "KIAA1438|MAL|MRTF-A|BSAC|MKL" "megakaryocytic acute leukemia|basic, SAP and coiled-coil domain" MKL1 megakaryoblastic leukemia (translocation) 1 Myocardin family 1407 2001-05-10 2018-06-11 2018-06-11 2021-04-13 57591 ENSG00000196588 OTTHUMG00000151146 uc032qph.2 AB037859 NM_020831 "CCDS82720|CCDS14003" Q969V6 "11431691|12019265|14970199" MGI:2384495 RGD:1304873 LRG_1427|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1427.xml MRTFA 606078 409876 HGNC:14334 "ENST00000355630.10|NM_020831.6" +HGNC:40681 MRTFA-AS1 MRTFA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 Antisense RNAs 1987 2018-06-11 2018-06-11 101927257 ENSG00000232564 OTTHUMG00000151147 NR_109965 HGNC:40681 +HGNC:29819 MRTFB myocardin related transcription factor B protein-coding gene gene with protein product Approved 16p13.12 16p13.12 "MRTF-B|FLJ31823" MKL2 "MKL/myocardin like 2|MKL and myocardin family member 2|MKL1/myocardin like 2" Myocardin family 1407 2004-08-25 2018-06-11 2018-06-11 2018-06-11 57496 ENSG00000186260 OTTHUMG00000177379 uc010uza.3 AB033069 NM_014048 "CCDS76823|CCDS32391" Q9ULH7 10574462 MGI:3050795 RGD:1560833 609463 HGNC:29819 "ENST00000571589.6|NM_001308142.2" +HGNC:18477 MRTO4 MRT4 homolog, ribosome maturation factor protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "dJ657E11.4|MRT4" C1orf33 "chromosome 1 open reading frame 33|MRT4, mRNA turnover 4, homolog (S. cerevisiae)|mRNA turnover 4 homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2002-05-23 2007-01-05 2015-07-02 2019-02-01 51154 ENSG00000053372 OTTHUMG00000002496 uc001bbs.4 AK027569 NM_016183 CCDS191 Q9UKD2 "20083226|26494001" MGI:1917152 RGD:1311709 HGNC:18477 "ENST00000330263.5|NM_016183.4" +HGNC:7315 MS4A1 membrane spanning 4-domains A1 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "B1|Bp35|FMC7" CD20 membrane-spanning 4-domains, subfamily A, member 1 "CD molecules|Membrane spanning 4-domains" "471|958" 1989-05-23 2016-01-20 2021-09-07 931 ENSG00000156738 OTTHUMG00000167614 uc001npq.3 M27394 NM_021950 CCDS31570 P11836 2448768 MGI:88321 RGD:1311999 LRG_140|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_140.xml 112210 235193 objectId:2628 CD20 HGNC:7315 "ENST00000345732.9|NM_152866.3" HGNC:7315 +HGNC:7316 MS4A2 membrane spanning 4-domains A2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 Fc fragment of IgE, high affinity I, receptor for; beta polypeptide "FCER1B|IGER|APY" "IgE responsiveness (atopic)|membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)|membrane-spanning 4-domains, subfamily A, member 2" Membrane spanning 4-domains 958 1992-07-09 2016-01-20 2021-09-07 2206 ENSG00000149534 OTTHUMG00000167239 uc001nop.4 M89796 NM_000139 "CCDS73292|CCDS7980" Q01362 1386024 MGI:95495 RGD:2598 147138 objectId:2936 HGNC:7316 "ENST00000278888.8|NM_000139.5" HGNC:7316 +HGNC:7317 MS4A3 membrane spanning 4-domains A3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 HTM4 CD20L membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) Membrane spanning 4-domains 958 1994-12-14 2016-01-20 2016-01-20 932 ENSG00000149516 OTTHUMG00000167380 uc001nom.4 L35848 NM_001031666 "CCDS31568|CCDS31567|CCDS41651" Q96HJ5 7524084 MGI:2158468 RGD:1310598 606498 HGNC:7317 "ENST00000278865.8|NM_006138.5" +HGNC:13371 MS4A4A membrane spanning 4-domains A4A protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "CD20L1|MS4A7" MS4A4 "membrane-spanning 4-domains, subfamily A, member 4|membrane-spanning 4-domains, subfamily A, member 4A" Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2016-10-05 51338 ENSG00000110079 OTTHUMG00000154949 uc001noz.4 AB013102 NM_001243266 "CCDS7982|CCDS58135" Q96JQ5 "11245982|11401424" MGI:3643932 RGD:1307006 606547 HGNC:13371 "ENST00000337908.5|NM_148975.3" +HGNC:14284 MS4A4E membrane spanning 4-domains A4E protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 4E "Membrane spanning 4-domains|MicroRNA protein coding host genes" "958|1691" 2002-03-26 2016-01-20 2020-04-20 643680 ENSG00000214787 OTTHUMG00000167354 uc058btl.1 AF354936 NM_001351235 Q96PG1 11486273 RGD:6493207 608401 HGNC:14284 "ENST00000651255.1|NM_001393391.1" +HGNC:13374 MS4A5 membrane spanning 4-domains A5 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 CD20L2 membrane-spanning 4-domains, subfamily A, member 5 Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2016-10-05 64232 ENSG00000166930 OTTHUMG00000167613 uc001npo.3 AB013103 NM_023945 CCDS7987 Q9H3V2 "11245982|11401424" MGI:2670985 RGD:1594968 606499 HGNC:13374 "ENST00000300190.7|NM_023945.3" +HGNC:13375 MS4A6A membrane spanning 4-domains A6A protein-coding gene gene with protein product Approved 11q12.2 11q12.2 CD20L3 MS4A6 membrane-spanning 4-domains, subfamily A, member 6A Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2016-10-05 64231 ENSG00000110077 OTTHUMG00000167241 uc009ymv.4 AB013104 NM_001247999 "CCDS81568|CCDS7981|CCDS44615|CCDS44616|CCDS58134" Q9H2W1 "11245982|11401424" "MGI:1916024|MGI:1917024|MGI:2385644" RGD:1305800 606548 HGNC:13375 "ENST00000528851.6|NM_022349.4" +HGNC:14285 MS4A6E membrane spanning 4-domains A6E protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 6E Membrane spanning 4-domains 958 2002-03-26 2016-01-20 2020-04-01 245802 ENSG00000166926 OTTHUMG00000167355 uc001npd.4 AF354931 NM_139249 CCDS7984 Q96DS6 11486273 "MGI:1916024|MGI:1917024|MGI:2385644" RGD:6486317 608402 HGNC:14285 "ENST00000684409.1|NM_139249.4" +HGNC:13378 MS4A7 membrane spanning 4-domains A7 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "CD20L4|CFFM4|MS4A8" membrane-spanning 4-domains, subfamily A, member 7 Membrane spanning 4-domains 958 2000-12-08 2016-01-20 2020-04-01 58475 ENSG00000166927 OTTHUMG00000167356 uc001npf.4 AB026043 NM_021201 "CCDS7986|CCDS7985" Q9GZW8 "11245982|11401424" MGI:1918846 RGD:1305549 606502 HGNC:13378 "ENST00000300184.8|NM_021201.5" +HGNC:13380 MS4A8 membrane spanning 4-domains A8 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "MS4A4|CD20L5" MS4A8B "membrane-spanning 4-domains, subfamily A, member 8B|membrane-spanning 4-domains, subfamily A, member 8" Membrane spanning 4-domains 958 2001-04-25 2013-03-01 2016-01-20 2016-10-05 83661 ENSG00000166959 OTTHUMG00000167686 uc001npv.4 AF237905 NM_031457 CCDS7990 Q9BY19 "11245982|11401424" MGI:1927657 RGD:1309035 606549 HGNC:13380 "ENST00000300226.7|NM_031457.2" +HGNC:13368 MS4A10 membrane spanning 4-domains A10 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "CD20L7|MS4A9" membrane-spanning 4-domains, subfamily A, member 10 Membrane spanning 4-domains 958 2005-01-26 2016-01-20 2019-08-21 341116 ENSG00000172689 OTTHUMG00000167689 uc001npz.1 AK122633 NM_206893 CCDS7992 Q96PG2 "11486273|11401424" MGI:1917076 RGD:1307478 608403 HGNC:13368 "ENST00000308287.2|NM_206893.4" +HGNC:13370 MS4A12 membrane spanning 4-domains A12 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "Ms4a10|FLJ20217" membrane-spanning 4-domains, subfamily A, member 12 Membrane spanning 4-domains 958 2002-11-26 2016-01-20 2019-04-30 54860 ENSG00000071203 OTTHUMG00000165364 uc001npr.4 AK000224 NM_001164470 "CCDS7988|CCDS53638" Q9NXJ0 "11401424|11486273" MGI:2685812 RGD:1307162 606550 HGNC:13370 "ENST00000016913.8|NM_017716.3" +HGNC:16674 MS4A13 membrane spanning 4-domains A13 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 13 Membrane spanning 4-domains 958 2005-12-05 2016-01-20 2016-01-20 503497 ENSG00000204979 OTTHUMG00000167615 uc001nps.4 AY324188 NM_001012417 "CCDS60801|CCDS31571|CCDS41653" Q5J8X5 MGI:1920716 RGD:1564175 HGNC:16674 "ENST00000378186.7|NM_001012417.3" +HGNC:30706 MS4A14 membrane spanning 4-domains A14 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "NYD-SP21|FLJ32856|DKFZp434H092" MS4A16 "membrane-spanning 4-domains, subfamily A, member 16|membrane-spanning 4-domains, subfamily A, member 14" Membrane spanning 4-domains 958 2004-06-07 2008-04-10 2016-01-20 2020-04-01 84689 ENSG00000166928 OTTHUMG00000167357 uc001npj.4 AY584610 NM_001079692 "CCDS73295|CCDS31569|CCDS58136|CCDS41652" Q96JA4 MGI:2686122 RGD:727900 HGNC:30706 "ENST00000300187.11|NM_032597.5" +HGNC:28573 MS4A15 membrane spanning 4-domains A15 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 15 Membrane spanning 4-domains 958 2004-06-07 2016-01-20 2019-08-21 219995 ENSG00000166961 OTTHUMG00000167688 uc001npx.3 AY584608 NM_001098835 "CCDS60802|CCDS7991|CCDS44617" Q8N5U1 MGI:3617853 RGD:1561158 HGNC:28573 "ENST00000405633.4|NM_001098835.2" +HGNC:37636 MS4A18 membrane spanning 4-domains A18 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 membrane-spanning 4-domains, subfamily A, member 18 Membrane spanning 4-domains 958 2009-12-01 2016-01-20 2018-11-16 728588 ENSG00000214782 OTTHUMG00000167687 uc001npw.2 NM_001354471 Q3C1V0 MGI:1923252 RGD:2323808 HGNC:37636 +HGNC:53877 MS4A19P membrane spanning 4-domains A19, pseudogene pseudogene pseudogene Approved 11q12.2 11q12.2 2020-01-07 2020-01-07 116435280 ENSG00000283601 OTTHUMG00000191779 NG_067177 MGI:1916666 +HGNC:33741 MSANTD1 Myb/SANT DNA binding domain containing 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 LOC345222 C4orf44 "chromosome 4 open reading frame 44|Myb/SANT-like DNA-binding domain containing 1" Myb/SANT domain containing 532 2008-07-14 2012-03-02 2016-03-01 2021-07-23 345222 ENSG00000188981 OTTHUMG00000159977 uc003ggs.4 NM_001042690 "CCDS47003|CCDS82907" Q6ZTZ1 MGI:2684990 RGD:1565796 HGNC:33741 "ENST00000438480.7|NM_001042690.2" +HGNC:26266 MSANTD2 Myb/SANT DNA binding domain containing 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ23342 C11orf61 "chromosome 11 open reading frame 61|Myb/SANT-like DNA-binding domain containing 2" Myb/SANT domain containing 532 2006-03-09 2012-03-02 2016-03-01 2016-03-01 79684 ENSG00000120458 OTTHUMG00000165931 uc001qaz.2 AK026995 NM_024631 "CCDS76491|CCDS73408|CCDS81641|CCDS8454" Q6P1R3 MGI:2384579 RGD:1562840 HGNC:26266 "ENST00000374979.8|NM_001308027.2" +HGNC:55601 MSANTD2-AS1 MSANTD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 Antisense RNAs 1987 2021-06-07 2021-06-07 100507283 ENSG00000245498 NR_103862 +HGNC:39637 MSANTD2P1 Myb/SANT DNA binding domain containing 2 pseudogene 1 pseudogene pseudogene Approved 21q21.2 21q21.2 Myb/SANT-like DNA-binding domain containing 2 pseudogene 1 2012-03-02 2016-03-01 2016-03-01 100130310 ENSG00000231058 OTTHUMG00000078255 NG_021997 PGOHUM00000258121 HGNC:39637 +HGNC:23370 MSANTD3 Myb/SANT DNA binding domain containing 3 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 MGC17337 C9orf30 "chromosome 9 open reading frame 30|Myb/SANT-like DNA-binding domain containing 3" Myb/SANT domain containing 532 2005-11-22 2012-03-13 2016-03-01 2016-03-01 91283 ENSG00000066697 OTTHUMG00000020365 uc022bla.2 BC008993 NM_080655 "CCDS56579|CCDS6749" Q96H12 MGI:1913915 RGD:1308165 HGNC:23370 "ENST00000395067.7|NM_080655.3" +HGNC:38838 MSANTD3-TMEFF1 MSANTD3-TMEFF1 readthrough other readthrough Approved 9q31.1 09q31.1 C9orf30-TMEFF1 C9orf30-TMEFF1 readthrough 2011-02-21 2012-03-13 2012-03-13 2014-11-19 100526694 ENSG00000251349 OTTHUMG00000161540 uc064uvb.1 NM_001198812.1 MGI:1926810 HGNC:38838 +HGNC:55780 MSANTD3P1 MSANTD3 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 2021-07-23 2021-07-23 100420848 ENSG00000263368 NG_026162 PGOHUM00000294025 +HGNC:29383 MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils protein-coding gene gene with protein product Approved 11q22.3 11q22.3 KIAA1826 "KIAA1826|Myb/SANT-like DNA-binding domain containing 4 with coiled-coils" Myb/SANT domain containing 532 2006-02-03 2012-03-13 2016-03-01 2016-10-05 84437 ENSG00000170903 OTTHUMG00000166240 uc001piz.3 AB058729 NM_032424 CCDS31663 Q8NCY6 MGI:1925350 RGD:1565380 HGNC:29383 "ENST00000301919.9|NM_032424.3" +HGNC:55184 MSANTD5 Myb/SANT DNA binding domain containing 5 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 Myb/SANT domain containing 532 2020-08-11 2020-08-11 102724657 ENSG00000285891 NM_001395436 A0A3B3IT52 +HGNC:7318 MSBP1 minisatellite binding protein 1 other unknown Approved reserved reserved 1995-05-17 2013-03-26 4431 "3243550|1754375" +HGNC:7319 MSBP2 minisatellite binding protein 2 other unknown Approved reserved reserved "minisatellite binding protein 2 (77kD)|minisatellite binding protein 2, 77kDa" 1995-05-17 2015-11-09 2015-11-09 4432 2062643 +HGNC:7321 MSC musculin protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "ABF-1|bHLHa22" activated B-cell factor-1 musculin (activated B-cell factor-1) Basic helix-loop-helix proteins 420 1998-10-30 2010-04-28 2014-11-19 9242 ENSG00000178860 OTTHUMG00000164489 uc003xyx.2 NM_005098 CCDS43746 O60682 "9584154|10198176" MGI:1333884 RGD:1305496 603628 HGNC:7321 "ENST00000325509.5|NM_005098.4" +HGNC:48724 MSC-AS1 MSC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q13.3-q21.11 08q13.3-q21.11 Antisense RNAs 1987 2015-03-05 2020-06-03 100132891 ENSG00000235531 OTTHUMG00000164497 NR_033652 32489020 MSC-AS1 HGNC:48724 +HGNC:14907 MSGN1 mesogenin 1 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 pMesogenin1 paraxial mesogenin 2005-11-14 2018-11-16 343930 ENSG00000151379 OTTHUMG00000159089 uc010yjt.3 NM_001105569 CCDS42657 A6NI15 10837126 MGI:1860483 RGD:1587516 612209 HGNC:14907 "ENST00000281047.4|NM_001105569.3" +HGNC:7325 MSH2 mutS homolog 2 protein-coding gene gene with protein product Approved 2p21-p16.3 02p21-p16.3 "HNPCC|HNPCC1|MSH-2" DNA mismatch repair protein Msh2 COCA1 "mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)|mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)" MutS homologs 1026 1993-07-28 2013-09-12 2022-02-09 4436 ENSG00000095002 OTTHUMG00000128861 uc002rvy.3 U03911 NM_000251 "CCDS1834|CCDS58709" P43246 "8484120|9843200" MGI:101816 RGD:620786 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MSH2|MSH2 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=MSH2|LOVD - Leiden Open Variation Database|http://proteomics.bio21.unimelb.edu.au/lovd/genes/MSH2|LRG_218|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_218.xml" MSH2 609309 123487 HGNC:7325 "ENST00000233146.7|NM_000251.3" HGNC:7325 +HGNC:40319 MSH2-OT1 MSH2 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 2p16.3 02p16.3 Overlapping transcripts 1988 2019-08-15 2019-08-15 644093 ENSG00000235760 OTTHUMG00000151664 NR_120602 HGNC:40319 +HGNC:7326 MSH3 mutS homolog 3 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "DUP|MRP1" "Divergent upstream protein|Mismatch repair protein 1" "mutS (E. coli) homolog 3|mutS homolog 3 (E. coli)" MutS homologs 1026 1995-09-28 2013-09-12 2021-05-26 4437 ENSG00000113318 OTTHUMG00000162540 uc003kgz.5 U61981 NM_002439 CCDS34195 P20585 MGI:109519 RGD:1563954 600887 HGNC:7326 "ENST00000265081.7|NM_002439.5" HGNC:7326 +HGNC:7327 MSH4 mutS homolog 4 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "mutS (E. coli) homolog 4|mutS homolog 4 (E. coli)" MutS homologs 1026 1997-08-22 2013-09-12 2021-05-26 4438 ENSG00000057468 OTTHUMG00000009788 uc001dhd.3 U89293 NM_002440 CCDS670 O15457 9299235 MGI:1860077 RGD:1309190 602105 HGNC:7327 "ENST00000263187.4|NM_002440.4" +HGNC:7328 MSH5 mutS homolog 5 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 G7 "mutS (E. coli) homolog 5|mutS homolog 5 (E. coli)" MutS homologs 1026 1998-03-10 2013-09-12 2016-12-09 4439 ENSG00000204410 OTTHUMG00000167551 uc003nww.3 AF070071 NM_002441 "CCDS34409|CCDS4720|CCDS34410" O43196 "9740671|9787078|17977839" MGI:1329021 RGD:1303008 603382 470690 HGNC:7328 "ENST00000375750.9|NM_172166.4" +HGNC:41994 MSH5-SAPCD1 MSH5-SAPCD1 readthrough (NMD candidate) other readthrough Approved 6p21.33 06p21.33 MSH5-C6orf26 MSH5-C6orf26 readthrough (non-protein coding) 2011-05-31 2011-12-13 2013-05-09 2014-11-19 100532732 ENSG00000255152 OTTHUMG00000031139 uc063uin.1 NR_037846.1 HGNC:41994 +HGNC:7329 MSH6 mutS homolog 6 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 MSH-6 GTBP "mutS (E. coli) homolog 6|mutS homolog 6 (E. coli)" "MutS homologs|PWWP domain containing" "1026|1147" 1995-08-29 2013-09-12 2022-02-09 2956 ENSG00000116062 OTTHUMG00000129129 uc002rwd.5 U54777 NM_000179 "CCDS62907|CCDS1836|CCDS62906" P52701 7604266 MGI:1343961 RGD:2322311 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MSH6|MSH6 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=MSH6|LRG_219|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_219.xml" MSH6 600678 123492 HGNC:7329 "ENST00000234420.11|NM_000179.3" HGNC:7329 +HGNC:7330 MSI1 musashi RNA binding protein 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "Musashi (Drosophila) homolog 1|musashi homolog 1 (Drosophila)" RNA binding motif containing 725 1998-05-07 2015-11-05 2021-05-26 4440 ENSG00000135097 OTTHUMG00000169344 uc001tye.2 AB012851 NM_002442 CCDS9196 O43347 9790759 MGI:107376 RGD:628778 603328 HGNC:7330 "ENST00000257552.7|NM_002442.4" +HGNC:18585 MSI2 musashi RNA binding protein 2 protein-coding gene gene with protein product Approved 17q22 17q22 musashi homolog 2 (Drosophila) RNA binding motif containing 725 2002-04-29 2015-11-05 2016-10-24 124540 ENSG00000153944 OTTHUMG00000178398 uc002iuz.2 BC001526 NM_001322250 "CCDS11596|CCDS11597|CCDS82168" Q96DH6 11588182 MGI:1923876 RGD:1560397 MSI2 607897 HGNC:18585 "ENST00000284073.7|NM_138962.4" +HGNC:27905 MSL1 MSL complex subunit 1 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "hMSL1|MSL-1|DKFZp686P24239" male-specific lethal 1 homolog (Drosophila) MSL histone acetyltransferase complex 1481 2008-10-29 2018-11-09 2018-11-09 339287 ENSG00000188895 OTTHUMG00000179629 uc002hua.6 NM_001012241 CCDS45670 Q68DK7 "16227571|16543150" MGI:1921276 RGD:1564778 614801 HGNC:27905 "ENST00000398532.9|NM_001365919.1" +HGNC:25544 MSL2 MSL complex subunit 2 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "FLJ10546|KIAA1585|msl-2" male-specific lethal-2 homolog (Drosophila) "RNF184|MSL2L1" "ring finger protein 184|male-specific lethal 2-like 1 (Drosophila)|male-specific lethal 2 homolog (Drosophila)" "Ring finger proteins|MSL histone acetyltransferase complex" "58|1481" 2005-01-26 2008-10-29 2017-05-25 2017-05-25 55167 ENSG00000174579 OTTHUMG00000159793 uc003eqx.2 AK001408 NM_018133 "CCDS46922|CCDS33861" Q9HCI7 "16227571|16543150" MGI:1925103 RGD:1310355 614802 HGNC:25544 "ENST00000309993.3|NM_018133.4" +HGNC:7370 MSL3 MSL complex subunit 3 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MSL3L1 "male-specific lethal-3 (Drosophila)-like 1|male-specific lethal 3-like 1 (Drosophila)|male-specific lethal 3 homolog (Drosophila)" MSL histone acetyltransferase complex 1481 1999-08-09 2008-10-29 2017-05-25 2021-05-26 10943 ENSG00000005302 OTTHUMG00000021132 uc004cuw.3 AF117065 NM_006800 "CCDS14147|CCDS55369|CCDS14148|CCDS14149|CCDS65213" Q8N5Y2 "10395802|10908644" MGI:1341851 RGD:1549763 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MSL3 300609 HGNC:7370 "ENST00000312196.10|NM_078629.4" HGNC:7370 +HGNC:17837 MSL3P1 MSL complex subunit 3 pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 MSL3L2 "male-specific lethal 3-like 2 (Drosophila)|male-specific lethal 3 homolog (Drosophila) pseudogene 1" 2002-01-29 2011-03-21 2017-05-25 2017-05-25 151507 ENSG00000224287 OTTHUMG00000059126 BI831020 NR_024322 P0C860 MGI:1920640 RGD:1308699 PGOHUM00000240561 HGNC:17837 +HGNC:7371 MSLN mesothelin protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CAK1|MPF" 1999-11-22 2015-08-25 10232 ENSG00000102854 OTTHUMG00000047992 uc002cjt.2 U40434 NM_001177355 "CCDS45370|CCDS32356" Q13421 "7665620|8552591" MGI:1888992 RGD:69333 601051 HGNC:7371 "ENST00000545450.7|NM_005823.6" +HGNC:14170 MSLNL mesothelin like other unknown Approved 16p13.3 16p13.3 MPFL C16orf37 chromosome 16 open reading frame 37 2000-12-21 2008-07-04 2019-02-18 2019-06-26 401827 ENSG00000162006 OTTHUMG00000168780 uc059orz.1 NG_032123 Q96KJ4 22265842 MGI:3607710 RGD:1561732 HGNC:14170 +HGNC:7372 MSMB microseminoprotein beta protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "PSP-94|PSP57|PSP94|IGBF|MSP|MSPB|PN44|PRPS|PSP" beta-microseminoprotein microseminoprotein, beta- 1991-08-07 2016-06-29 2016-10-05 4477 ENSG00000263639 OTTHUMG00000188315 uc001jiq.5 BC005257 "NM_002443|NM_138634" "CCDS73095|CCDS73096" P08118 1783399 MGI:97166 RGD:3113 157145 233066 ligandId:10541 HGNC:7372 "ENST00000582163.3|NM_002443.4" +HGNC:10545 MSMO1 methylsterol monooxygenase 1 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "DESP4|ERG25" SC4MOL sterol-C4-methyl oxidase-like Fatty acid hydroxylase domain containing 552 1997-02-28 2011-09-01 2011-09-01 2017-12-15 6307 ENSG00000052802 OTTHUMG00000161126 uc003ire.4 U93162 NM_006745 "CCDS3809|CCDS43280" Q15800 8663358 MGI:1913484 RGD:620281 607545 470692 1.14.18.9 HGNC:10545 "ENST00000261507.11|NM_006745.5" HGNC:10545 +HGNC:29663 MSMP microseminoprotein, prostate associated protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "PC-3|PSMP" 2009-02-27 2015-08-25 692094 ENSG00000215183 OTTHUMG00000019882 uc003zyb.3 DQ012170 NM_001044264 CCDS43797 Q1L6U9 17338636 MGI:3652339 RGD:2323536 612191 HGNC:29663 "ENST00000436428.3|NM_001044264.3" +HGNC:7373 MSN moesin protein-coding gene gene with protein product Approved Xq12 Xq12 FERM domain containing 1293 1993-02-05 2020-04-02 4478 ENSG00000147065 OTTHUMG00000021723 uc064zqh.1 M69066 NM_002444 CCDS14382 P26038 "1924289|7628534" MGI:97167 RGD:621260 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MSN MSN 309845 470694 HGNC:7373 "ENST00000360270.7|NM_002444.3" HGNC:7373 +HGNC:7374 MSNP1 moesin pseudogene 1 pseudogene pseudogene Approved 5p14.1 05p14.1 MSNL1 moesin-like 1 1993-07-15 2010-10-20 2010-10-20 2014-11-19 4479 ENSG00000251593 OTTHUMG00000161961 NG_003032 8188263 PGOHUM00000235534 HGNC:7374 +HGNC:7376 MSR1 macrophage scavenger receptor 1 protein-coding gene gene with protein product Approved 8p22 08p22 "SCARA1|CD204|SR-AI|SR-AII|SR-AIII|SR-A" "CD molecules|Scavenger receptors|Scavenger receptor cysteine rich domain containing" "471|1253|1404" 1991-08-07 2017-02-28 4481 ENSG00000038945 OTTHUMG00000094809 uc003wwz.4 D13263 NM_001363744 "CCDS5995|CCDS5996|CCDS5997|CCDS87581" P21757 2251254 MGI:98257 RGD:1564316 153622 297634 CD204 HGNC:7376 "ENST00000262101.10|NM_138715.3" HGNC:7376 +HGNC:7377 MSRA methionine sulfoxide reductase A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 1996-12-19 2015-08-25 4482 ENSG00000175806 OTTHUMG00000090517 uc003wsx.4 BC054033 NM_012331 "CCDS47798|CCDS56522|CCDS5975|CCDS47799" Q9UJ68 10452521 MGI:106916 RGD:70979 601250 1.8.4.11 HGNC:7377 "ENST00000317173.9|NM_012331.5" +HGNC:55400 MSRA-DT MSRA divergent transcript non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Divergent transcripts 1990 2020-12-21 2020-12-21 105379234 ENSG00000260093 XR_001745802 +HGNC:14133 MSRB1 methionine sulfoxide reductase B1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SelR|SepR|SelX|SELENOX|SELENOR" selenoprotein R SEPX1 selenoprotein X, 1 Selenoproteins 890 2000-12-21 2012-03-01 2012-03-01 2021-03-08 51734 ENSG00000198736 OTTHUMG00000129143 uc021tam.2 AF166124 NM_016332 CCDS42100 Q9NZV6 "10608886|20634897" MGI:1351642 RGD:1583243 606216 HGNC:14133 "ENST00000361871.8|NM_016332.4" +HGNC:43985 MSRB1P1 methionine sulfoxide reductase B1 pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 2012-05-22 2012-05-22 441849 ENSG00000213926 OTTHUMG00000168117 NG_030284 PGOHUM00000259330 HGNC:43985 +HGNC:17061 MSRB2 methionine sulfoxide reductase B2 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "PILB|CGI-131|CBS1|CBS-1" MSRB methionine sulfoxide reductase B 2004-02-03 2004-12-07 2004-12-06 2016-10-05 22921 ENSG00000148450 OTTHUMG00000017812 uc001iro.4 AF122004 NM_012228 CCDS41495 Q9Y3D2 "8749308|10375640" MGI:1923717 RGD:1306026 613782 HGNC:17061 "ENST00000376510.8|NM_012228.4" +HGNC:27375 MSRB3 methionine sulfoxide reductase B3 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "FLJ36866|DKFZp686C1178" DFNB74 deafness, autosomal recessive 74 2004-12-06 2014-11-19 253827 ENSG00000174099 OTTHUMG00000168866 uc001ssm.3 BX640871 NM_198080 "CCDS31853|CCDS8973" Q8IXL7 21185009 MGI:2443538 RGD:1596851 613719 258532 HGNC:27375 "ENST00000308259.10|NM_001031679.3" HGNC:27375 +HGNC:53386 MSRB3-AS1 MSRB3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q14.3 12q14.3 Antisense RNAs 1987 2022-01-14 2022-01-14 100507065 ENSG00000250748 OTTHUMG00000168872 NR_120431 +HGNC:21000 MSS51 MSS51 mitochondrial translational activator protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ39565 ZMYND17 "zinc finger, MYND-type containing 17|MSS51 mitochondrial translational activator homolog (S. cerevisiae)" Zinc fingers MYND-type 87 2003-11-20 2012-02-24 2013-01-10 2016-10-05 118490 ENSG00000166343 OTTHUMG00000018464 uc001jud.4 AK096884 NM_178451 CCDS31221 Q4VC12 19710419 MGI:1922093 RGD:1309408 614773 HGNC:21000 "ENST00000299432.7|NM_001024593.2" +HGNC:7380 MST1 macrophage stimulating 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "MSP|NF15S2" "D3F15S2|HGFL|DNF15S2" hepatocyte growth factor-like 1992-08-24 2015-02-23 2016-10-05 4485 ENSG00000173531 OTTHUMG00000155918 uc003cxg.4 M74178 NM_020998 CCDS33757 P26927 "2902784|8393443" MGI:96080 RGD:3114 142408 367104 S01.975 ligandId:5023 HGNC:7380 "ENST00000449682.3|NM_020998.4" HGNC:7380 +HGNC:7390 MST1L macrophage stimulating 1 like (pseudogene) pseudogene pseudogene Approved 1p36.13 01p36.13 "D1F15S1A|MSPL7|MSPL-7" "MSTP7|MSTP9|MST1P9" "macrophage stimulating, pseudogene 7|macrophage stimulating, pseudogene 9|macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9|macrophage stimulating 1 like" 1999-09-09 2012-11-09 2021-03-08 2021-03-08 11223 ENSG00000186715 OTTHUMG00000002578 "U28055|AF083416" NR_171546 Q2TV78 10728827 MGI:96080 S01.933 HGNC:7390 +HGNC:7383 MST1P2 macrophage stimulating 1 pseudogene 2 pseudogene pseudogene Approved 1p36.13 01p36.13 "MSPL2|MSPL-2" MSTP2 "macrophage stimulating, pseudogene 2|macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2" 1999-09-09 2010-01-08 2016-06-27 2016-06-27 11209 ENSG00000186301 OTTHUMG00000057487 AF083411 NR_027504 10585770 PGOHUM00000251108 HGNC:7383 +HGNC:7381 MST1R macrophage stimulating 1 receptor protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CDw136|CD136" c-met-related tyrosine kinase "RON|PTK8|SEA" "PTK8 protein tyrosine kinase 8|S13 erythroblastosis (avian) oncogene homolog|S13 avian erythroblastosis oncogene homolog" "Receptor tyrosine kinases|CD molecules|IPT domain containing" "321|471|1752" 1993-12-15 2015-02-23 2019-06-28 4486 ENSG00000164078 OTTHUMG00000156709 uc003cxy.5 X70040 NM_001244937 "CCDS58833|CCDS2807|CCDS82777" Q04912 8386824 MGI:99614 RGD:1306465 600168 objectId:1816 CD136 HGNC:7381 "ENST00000296474.8|NM_002447.4" +HGNC:4223 MSTN myostatin protein-coding gene gene with protein product Approved 2q32.2 02q32.2 GDF8 growth differentiation factor 8 Transforming growth factor beta superfamily 1932 1997-09-12 2007-06-21 2007-06-21 2021-04-13 2660 ENSG00000138379 OTTHUMG00000132663 uc002urp.4 AF019627 NM_005259 CCDS2303 O14793 "9288100|10610713|17003236" MGI:95691 RGD:3115 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=MSTN|LRG_200|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_200.xml" 601788 279640 ligandId:5025 HGNC:4223 "ENST00000260950.5|NM_005259.3" HGNC:4223 +HGNC:29678 MSTO1 misato mitochondrial distribution and morphology regulator 1 protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ10504|LST005|MST|misato" misato homolog 1 (Drosophila) 2005-07-19 2018-11-09 2018-11-09 55154 ENSG00000125459 OTTHUMG00000014014 uc001fky.5 BX537684 NM_018116 CCDS1114 Q9BUK6 "16545939|17349998" MGI:2385175 RGD:1306110 617619 HGNC:29678 "ENST00000245564.8|NM_018116.4" HGNC:29678 +HGNC:26329 MSTO2P misato family member 2, pseudogene pseudogene pseudogene Approved 1q22 01q22 MSTO2 "misato homolog 2 (Drosophila)|misato homolog 2 pseudogene" 2006-03-22 2008-06-06 2013-08-21 2020-04-20 100129405 ENSG00000203761 OTTHUMG00000035441 XR_039412 16545939 PGOHUM00000296587 HGNC:26329 +HGNC:7391 MSX1 msh homeobox 1 protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "HYD1|OFC5" HOX7 "msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)|msh homeobox homolog 1 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 1993-05-26 2006-11-21 2021-05-26 4487 ENSG00000163132 OTTHUMG00000090335 uc003gif.4 M97676 NM_002448 CCDS3378 P28360 "1685479|1973146" MGI:97168 RGD:620929 LRG_1342|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1342.xml 142983 8467 123495 HGNC:7391 "ENST00000382723.5|NM_002448.3" HGNC:7391 +HGNC:7392 MSX2 msh homeobox 2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "CRS2|FPP|HOX8|MSH|PFM" craniosynostosis, type 2 PFM1 "msh (Drosophila) homeo box homolog 2|parietal foramina 1|msh homeobox homolog 2 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 1993-05-26 2006-11-21 2021-05-26 4488 ENSG00000120149 OTTHUMG00000130556 uc003mcy.4 D26145 NM_001363626 "CCDS4392|CCDS87348" P35548 "8668339|8786091" MGI:97169 RGD:3116 123101 8468 123500 HGNC:7392 "ENST00000239243.7|NM_002449.5" HGNC:7392 +HGNC:24976 MSX2P1 msh homeobox 2 pseudogene 1 pseudogene pseudogene Approved 17q22 17q22 "HSHPX5|HPX5" MSX2P msh homeobox 2 pseudogene NKL subclass homeoboxes and pseudogenes 519 2006-11-21 2007-07-27 2007-07-27 2017-10-30 55545 ENSG00000229590 OTTHUMG00000178800 NR_002307 7518789 8383 PGOHUM00000294486 HGNC:24976 +HGNC:7409 MT-7SDNA mitochondrially encoded 7S DNA other region Approved mitochondria mitochondria MT7SDNA 7S DNA Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 "24709344|273237" +HGNC:7414 MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 protein-coding gene gene with protein product Approved mitochondria mitochondria "ATP6|ATPase-6|Su6m" mitochondrially encoded ATP synthase membrane subunit a "MTATP6|RP" "ATP synthase 6|spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit|mitochondrially encoded ATP synthase 6" "Mitochondrial complex V: ATP synthase subunits|Mitochondrially encoded protein coding genes" "644|1974" 1989-10-12 2005-02-16 2017-11-22 2021-05-26 4508 ENSG00000198899 uc064xpf.1 YP_003024031 P00846 7219534 MGI:99927 RGD:621239 516060 123508 objectId:801 HGNC:7414 HGNC:7414 +HGNC:7415 MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 protein-coding gene gene with protein product Approved mitochondria mitochondria "ATP8|A6L|URFA6L" mitochondrially encoded ATP synthase membrane subunit A6L MTATP8 "ATP synthase 8|mitochondrially encoded ATP synthase 8" "Mitochondrial complex V: ATP synthase subunits|Mitochondrially encoded protein coding genes" "644|1974" 1989-10-12 2005-02-16 2017-11-22 2021-05-26 4509 ENSG00000228253 uc064xpe.1 YP_003024030 P03928 MGI:99926 RGD:621240 516070 159773 objectId:809 HGNC:7415 HGNC:7415 +HGNC:7416 MT-ATT mitochondrially encoded membrane attachment site other region Approved mitochondria mitochondria MTATT membrane attachment site Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 +HGNC:7419 MT-CO1 mitochondrially encoded cytochrome c oxidase I protein-coding gene gene with protein product Approved mitochondria mitochondria "COX1|COI" MTCO1 cytochrome c oxidase I "Mitochondrial complex IV: cytochrome c oxidase subunits|Mitochondrially encoded protein coding genes" "643|1974" 1989-10-12 2005-02-16 2005-02-15 2021-05-26 4512 ENSG00000198804 uc031tga.3 YP_003024028 P00395 7219534 MGI:102504 RGD:621871 516030 123512 HGNC:7419 HGNC:7419 +HGNC:7421 MT-CO2 mitochondrially encoded cytochrome c oxidase II protein-coding gene gene with protein product Approved mitochondria mitochondria "COX2|CO2" MTCO2 cytochrome c oxidase II "Mitochondrial complex IV: cytochrome c oxidase subunits|Mitochondrially encoded protein coding genes" "643|1974" 1989-10-12 2005-02-16 2005-02-15 2021-12-02 4513 ENSG00000198712 uc064xpd.1 YP_003024029 P00403 "1712754|1989603" MGI:102503 RGD:621872 516040 123516 HGNC:7421 HGNC:7421 +HGNC:7422 MT-CO3 mitochondrially encoded cytochrome c oxidase III protein-coding gene gene with protein product Approved mitochondria mitochondria "COX3|COIII|CO3" MTCO3 cytochrome c oxidase III "Mitochondrial complex IV: cytochrome c oxidase subunits|Mitochondrially encoded protein coding genes" "643|1974" 1989-10-12 2005-02-16 2005-02-15 2021-12-02 4514 ENSG00000198938 uc064xpg.1 YP_003024032 P00414 MGI:102502 RGD:621873 516050 123520 HGNC:7422 HGNC:7422 +HGNC:7424 MT-CSB1 mitochondrially encoded conserved sequence block I other region Approved mitochondria mitochondria CSB-I MTCSB1 conserved sequence block I Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 2982153 +HGNC:7425 MT-CSB2 mitochondrially encoded conserved sequence block II other region Approved mitochondria mitochondria CSB-II MTCSB2 conserved sequence block II Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 2982153 +HGNC:7426 MT-CSB3 mitochondrially encoded conserved sequence block III other region Approved mitochondria mitochondria CSB-III MTCSB3 conserved sequence block III Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 2982153 +HGNC:7427 MT-CYB mitochondrially encoded cytochrome b protein-coding gene gene with protein product Approved mitochondria mitochondria "COB|CYTB|UQCR3" MTCYB cytochrome b "Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits|Mitochondrially encoded protein coding genes" "642|1974" 1989-10-11 2005-02-16 2005-02-15 2021-12-02 4519 ENSG00000198727 uc033dmn.2 YP_003024038 P00156 MGI:102501 RGD:620081 516020 123524 HGNC:7427 HGNC:7427 +HGNC:7438 MT-HPR mitochondrially encoded replication primer other region Approved mitochondria mitochondria HPR MTHPR replication primer Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 3582365 +HGNC:7439 MT-HSP1 mitochondrially encoded major H-strand promoter other region Approved mitochondria mitochondria MTHSP1 major H-strand promoter Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 6185947 +HGNC:7440 MT-HSP2 mitochondrially encoded minor H-strand promoter other region Approved mitochondria mitochondria MTHSP2 minor H-strand promoter Mitochondrially encoded regions 1973 1989-10-12 2019-10-09 2005-02-15 2019-10-09 6185947 +HGNC:50279 MT-LIPCAR mitochondrially encoded long non-coding cardiac associated RNA non-coding RNA RNA, long non-coding Approved mitochondria mitochondria "uc022bqs.1|LIPCAR" long intergenic non coding RNA predicting cardiac remodeling and survival "Mitochondrially encoded long non-coding RNAs|Long non-coding RNAs with non-systematic symbols" "1976|1992" 2014-06-27 2014-06-27 2020-01-22 JA760602 24663402 mt-lipcar +HGNC:7447 MT-LSP mitochondrially encoded L-strand promoter other region Approved mitochondria mitochondria MTLSP L-strand promoter Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 6185947 +HGNC:7455 MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 protein-coding gene gene with protein product Approved mitochondria mitochondria "ND1|NAD1" "complex I ND1 subunit|NADH-ubiquinone oxidoreductase chain 1" MTND1 "NADH dehydrogenase 1|mitochondrially encoded NADH dehydrogenase 1" "NADH:ubiquinone oxidoreductase core subunits|Mitochondrially encoded protein coding genes" "1149|1974" 1989-10-12 2005-02-16 2015-11-20 2021-12-02 4535 ENSG00000198888 uc064xou.1 YP_003024026 P03886 MGI:101787 RGD:620555 516000 123537 1.6.5.3 HGNC:7455 HGNC:7455 +HGNC:7456 MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 protein-coding gene gene with protein product Approved mitochondria mitochondria "ND2|NAD2" "complex I ND2 subunit|NADH-ubiquinone oxidoreductase chain 2" MTND2 "NADH dehydrogenase 2|mitochondrially encoded NADH dehydrogenase 2" "NADH:ubiquinone oxidoreductase core subunits|Mitochondrially encoded protein coding genes" "1149|1974" 1989-10-12 2005-02-16 2015-11-20 2021-05-26 4536 ENSG00000198763 uc064xox.1 YP_003024027 P03891 MGI:102500 RGD:620556 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 516001 123542 1.6.5.3 HGNC:7456 HGNC:7456 +HGNC:7458 MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 protein-coding gene gene with protein product Approved mitochondria mitochondria "ND3|NAD3" "complex I ND3 subunit|NADH-ubiquinone oxidoreductase chain 3" MTND3 "NADH dehydrogenase 3|mitochondrially encoded NADH dehydrogenase 3" "NADH:ubiquinone oxidoreductase core subunits|Mitochondrially encoded protein coding genes" "1149|1974" 1989-10-12 2005-02-16 2015-11-20 2021-05-26 4537 ENSG00000198840 uc022bqu.3 YP_003024033 P03897 MGI:102499 RGD:620557 516002 123547 1.6.5.3 HGNC:7458 HGNC:7458 +HGNC:7459 MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 protein-coding gene gene with protein product Approved mitochondria mitochondria "ND4|NAD4" "complex I ND4 subunit|NADH-ubiquinone oxidoreductase chain 4" "MTND4|LHON" "NADH dehydrogenase 4|Leber optic neuropathy|mitochondrially encoded NADH dehydrogenase 4" "NADH:ubiquinone oxidoreductase core subunits|Mitochondrially encoded protein coding genes" "1149|1974" 1989-06-03 2005-02-16 2015-11-20 2021-12-02 4538 ENSG00000198886 uc064xpj.1 YP_003024035 P03905 8103501 MGI:102498 RGD:620559 516003 123552 1.6.5.3 HGNC:7459 HGNC:7459 +HGNC:7460 MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L protein-coding gene gene with protein product Approved mitochondria mitochondria "ND4L|NAD4L" "complex I ND4L subunit|NADH-ubiquinone oxidoreductase chain 4L" MTND4L "NADH dehydrogenase 4L|mitochondrially encoded NADH dehydrogenase 4L" "NADH:ubiquinone oxidoreductase core subunits|Mitochondrially encoded protein coding genes" "1149|1974" 1989-10-12 2005-02-16 2015-11-20 2021-05-26 4539 ENSG00000212907 uc033dmm.2 YP_003024034 P03901 MGI:102497 RGD:620494 516004 123557 1.6.5.3 HGNC:7460 HGNC:7460 +HGNC:7461 MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 protein-coding gene gene with protein product Approved mitochondria mitochondria "ND5|NAD5" "complex I ND5 subunit|NADH-ubiquinone oxidoreductase chain 5" MTND5 "NADH dehydrogenase 5|mitochondrially encoded NADH dehydrogenase 5" "NADH:ubiquinone oxidoreductase core subunits|Mitochondrially encoded protein coding genes" "1149|1974" 1989-10-11 2005-02-16 2015-11-20 2021-05-26 4540 ENSG00000198786 uc004cox.6 YP_003024036 P03915 MGI:102496 RGD:620560 516005 123562 1.6.5.3 HGNC:7461 HGNC:7461 +HGNC:7462 MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 protein-coding gene gene with protein product Approved mitochondria mitochondria "NAD6|ND6" "complex I ND6 subunit|NADH-ubiquinone oxidoreductase chain 6" MTND6 "NADH dehydrogenase 6|mitochondrially encoded NADH dehydrogenase 6" "NADH:ubiquinone oxidoreductase core subunits|Mitochondrially encoded protein coding genes" "1149|1974" 1989-10-11 2005-02-16 2015-11-20 2021-12-02 4541 ENSG00000198695 uc064xpm.1 YP_003024037 P03923 MGI:102495 RGD:620561 516006 123567 1.6.5.3 HGNC:7462 HGNC:7462 +HGNC:7465 MT-OHR mitochondrially encoded heavy strand origin of replication other region Approved mitochondria mitochondria MTOHR heavy strand origin of replication Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 551247 +HGNC:7466 MT-OLR mitochondrially encoded light strand origin of replication other region Approved mitochondria mitochondria OriL MTOLR light strand origin of replication Mitochondrially encoded regions 1973 1989-10-12 2019-10-09 2005-02-15 2019-10-09 3944140 +HGNC:7470 MT-RNR1 mitochondrially encoded 12S rRNA non-coding RNA RNA, ribosomal Approved mitochondria mitochondria "12S|MOTS-c" "mitochondrial open-reading-frame of the twelve S rRNA type-c|mitochondrially encoded 12S ribosomal RNA" MTRNR1 "12S RNA|mitochondrially encoded 12S RNA" Mitochondrially encoded ribosomal RNAs 1378 1989-10-12 2005-02-16 2019-03-15 2021-12-02 4549 ENSG00000211459 uc022bqo.3 A0A0C5B5G6 "22852811|25738459|25650108" MGI:102493 561000 138902 HGNC:7470 +HGNC:7471 MT-RNR2 mitochondrially encoded 16S rRNA non-coding RNA RNA, ribosomal Approved mitochondria mitochondria "HN|16S" "humanin|formyl-humanin" MTRNR2 mitochondrially encoded 16S RNA "Receptor ligands|Mitochondrially encoded ribosomal RNAs" "542|1378" 1989-10-12 2005-02-16 2019-03-15 2021-12-02 4550 ENSG00000210082 uc033dmk.2 NC_012920 Q8IVG9 "8798341|12009529|12445508|25650108" MGI:102492 561010 400453 ligandId:1047 HGNC:7471 +HGNC:7472 MT-RNR3 mitochondrially encoded 5S-like sequence other region Approved mitochondria mitochondria MTRNR3 5S-like sequence Mitochondrially encoded regions 1973 1989-10-12 2019-10-09 2005-02-15 2019-10-09 6180301 +HGNC:7475 MT-TA mitochondrially encoded tRNA-Ala (GCN) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnA mitochondrially encoded transfer RNA alanine MTTA "tRNA alanine|mitochondrially encoded tRNA alanine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2022-01-19 4553 ENSG00000210127 uc022bqq.2 "7219534|25873012" MGI:102491 590000 470700 7 HGNC:7475 +HGNC:7476 MT-TAS mitochondrially encoded termination associated sequence other region Approved mitochondria mitochondria MTTAS "termination associated sequence|mitochondrially encoded termination associate sequence" Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2019-10-09 2019-10-09 9473475 +HGNC:7477 MT-TC mitochondrially encoded tRNA-Cys (UGU/C) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnC MTTC "tRNA cysteine|mitochondrially encoded tRNA cysteine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4511 ENSG00000210140 uc064xoz.1 7219534 MGI:102490 590020 470702 12 HGNC:7477 +HGNC:7478 MT-TD mitochondrially encoded tRNA-Asp (GAU/C) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnD MTTD "tRNA aspartic acid|mitochondrially encoded tRNA aspartic acid" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4555 ENSG00000210154 uc064xpc.1 7219534 MGI:102489 590015 470704 11 HGNC:7478 +HGNC:7479 MT-TE mitochondrially encoded tRNA-Glu (GAA/G) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnE MTTE "tRNA glutamic acid|mitochondrially encoded tRNA glutamic acid" Mitochondrially encoded transfer RNAs 843 1989-10-11 2005-02-16 2018-11-16 2021-12-02 4556 ENSG00000210194 uc022bqv.3 7219534 MGI:102488 590025 140514 13 HGNC:7479 +HGNC:7480 MT-TER mitochondrially encoded transcription terminator other region Approved mitochondria mitochondria MTTER transcription terminator Mitochondrially encoded regions 1973 1989-10-12 2019-10-09 2005-02-15 2019-10-09 3018722 +HGNC:7481 MT-TF mitochondrially encoded tRNA-Phe (UUU/C) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnF MTTF "tRNA phenylalanine|mitochondrially encoded tRNA phenylalanine" Mitochondrially encoded transfer RNAs 843 1989-10-11 2005-02-16 2018-11-16 2021-12-02 4558 ENSG00000210049 uc064xos.1 7219534 MGI:102487 590070 167909 20 HGNC:7481 +HGNC:7482 MT-TFH mitochondrially encoded transcription factor binding site H other region Approved mitochondria mitochondria MTTFH mitochondrial transcription factor binding site Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 3594571 +HGNC:7483 MT-TFL mitochondrially encoded transcription factor binding site L other region Approved mitochondria mitochondria MTTFL mitochondrial transcription factor binding site Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 3594571 +HGNC:7484 MT-TFX mitochondrially encoded transcription factor binding site X other region Approved mitochondria mitochondria MTTFX mitochondrial transcription factor binding site Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 3594571 +HGNC:7485 MT-TFY mitochondrially encoded transcription factor binding site Y other region Approved mitochondria mitochondria MTTFY mitochondrial transcription factor binding site Mitochondrially encoded regions 1973 1989-10-11 2019-10-09 2005-02-15 2019-10-09 3594571 +HGNC:7486 MT-TG mitochondrially encoded tRNA-Gly (GGN) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnG MTTG "tRNA glycine|mitochondrially encoded tRNA glycine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4563 ENSG00000210164 uc064xph.1 7219534 MGI:102486 590035 188805 27 HGNC:7486 +HGNC:7487 MT-TH mitochondrially encoded tRNA-His (CAU/C) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnH MTTH "tRNA histidine|mitochondrially encoded tRNA histidine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4564 ENSG00000210176 uc064xpk.1 7219534 MGI:102485 590040 166766 15 HGNC:7487 +HGNC:7488 MT-TI mitochondrially encoded tRNA-Ile (AUU/C) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnI MTTI "tRNA isoleucine|mitochondrially encoded tRNA isoleucine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4565 ENSG00000210100 uc064xov.1 7219534 MGI:102484 590045 160303 16 HGNC:7488 +HGNC:7489 MT-TK mitochondrially encoded tRNA-Lys (AAA/G) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnK "MERRF|MTTK" "tRNA lysine|mitochondrially encoded tRNA lysine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4566 ENSG00000210156 uc011mfi.3 "7219534|2112427|2124116" MGI:102483 590060 138900 28 HGNC:7489 HGNC:7489 +HGNC:7490 MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 non-coding RNA RNA, transfer Approved mitochondria mitochondria TRNL1 MTTL1 "tRNA leucine 1 (UUA/G)|mitochondrially encoded tRNA leucine 1 (UUA/G)" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4567 ENSG00000209082 uc064xot.1 7219534 MGI:102482 590050 138895 18 HGNC:7490 HGNC:7490 +HGNC:7491 MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 non-coding RNA RNA, transfer Approved mitochondria mitochondria TRNL2 MTTL2 "tRNA leucine 2 (CUN)|mitochondrially encoded tRNA leucine 2 (CUN)" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4568 ENSG00000210191 uc064xpl.1 7219534 MGI:102481 590055 183924 17 HGNC:7491 +HGNC:7492 MT-TM mitochondrially encoded tRNA-Met (AUA/G) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnM MTTM "tRNA methionine|mitochondrially encoded tRNA methionine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4569 ENSG00000210112 uc064xow.1 7219534 MGI:102480 590065 470706 19 HGNC:7492 +HGNC:7493 MT-TN mitochondrially encoded tRNA-Asn (AAU/C) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnN MTTN "tRNA asparagine|mitochondrially encoded tRNA asparagine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4570 ENSG00000210135 uc022bqr.2 7219534 MGI:102479 590010 364766 10 HGNC:7493 +HGNC:7494 MT-TP mitochondrially encoded tRNA-Pro (CCN) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnP MTTP "tRNA proline|mitochondrially encoded tRNA proline" Mitochondrially encoded transfer RNAs 843 1989-10-11 2005-02-16 2018-11-16 2021-05-26 4571 ENSG00000210196 uc022bqx.2 7219534 MGI:102478 590075 205934 21 HGNC:7494 HGNC:7494 +HGNC:7495 MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnQ MTTQ "tRNA glutamine|mitochondrially encoded tRNA glutamine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4572 ENSG00000210107 uc033dml.1 7219534 MGI:102477 590030 138906 14 HGNC:7495 +HGNC:7496 MT-TR mitochondrially encoded tRNA-Arg (CGN) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnR MTTR "tRNA arginine|mitochondrially encoded tRNA arginine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4573 ENSG00000210174 uc064xpi.1 7219534 MGI:102476 590005 470708 9 HGNC:7496 +HGNC:7497 MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 non-coding RNA RNA, transfer Approved mitochondria mitochondria TRNS1 MTTS1 "tRNA serine 1 (UCN)|mitochondrially encoded tRNA serine 1 (UCN)" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4574 ENSG00000210151 uc064xpb.1 7219534 MGI:102475 590080 167901 23 HGNC:7497 +HGNC:7498 MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 non-coding RNA RNA, transfer Approved mitochondria mitochondria "TRNS2|RP8" MTTS2 "tRNA serine 2 (AGU/C)|mitochondrially encoded tRNA serine 2 (AGU/C)" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4575 ENSG00000210184 uc004cow.3 7219534 MGI:102474 Mutations of the Second Mitochondrial Serine tRNA Gene|http://www.retina-international.org/files/sci-news/mttsmut.htm 590085 167905 22 HGNC:7498 +HGNC:7499 MT-TT mitochondrially encoded tRNA-Thr (ACN) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnT "MTTT|LIMM" "tRNA threonine|lethal infantile mitochondrial myopathy|mitochondrially encoded tRNA threonine" Mitochondrially encoded transfer RNAs 843 1989-10-11 2005-02-16 2018-11-16 2021-12-02 4576 ENSG00000210195 uc064xpn.1 7219534 MGI:102473 590090 328936 24 HGNC:7499 +HGNC:7500 MT-TV mitochondrially encoded tRNA-Val (GUN) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnV MTTV "tRNA valine|mitochondrially encoded tRNA valine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4577 ENSG00000210077 uc004cor.2 7219534 MGI:102472 590105 267449 8 HGNC:7500 +HGNC:7501 MT-TW mitochondrially encoded tRNA-Trp (UGA/G) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnW MTTW "tRNA tryptophan|mitochondrially encoded tRNA tryptophan" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4578 ENSG00000210117 uc064xoy.1 7219534 MGI:102471 590095 160307 25 HGNC:7501 HGNC:7501 +HGNC:7502 MT-TY mitochondrially encoded tRNA-Tyr (UAU/C) non-coding RNA RNA, transfer Approved mitochondria mitochondria trnY MTTY "tRNA tyrosine|mitochondrially encoded tRNA tyrosine" Mitochondrially encoded transfer RNAs 843 1989-10-12 2005-02-16 2018-11-16 2021-12-02 4579 ENSG00000210144 uc064xpa.1 7219534 MGI:102470 590100 470710 26 HGNC:7502 +HGNC:7393 MT1A metallothionein 1A protein-coding gene gene with protein product Approved 16q13 16q13 "MT1|MT1S" metallothionein 1S Metallothioneins 638 2001-06-22 2007-03-02 2019-08-21 4489 ENSG00000205362 OTTHUMG00000176919 uc059umh.1 BC029475 NM_005946 CCDS32454 P04731 "6089206|6327055" MGI:97171 RGD:3117 156350 HGNC:7393 "ENST00000290705.12|NM_005946.3" +HGNC:7394 MT1B metallothionein 1B protein-coding gene gene with protein product Approved 16q13 16q13 "MT1|MT1Q" metallothionein 1Q Metallothioneins 638 1990-09-10 2007-03-02 2015-09-04 4490 ENSG00000169688 OTTHUMG00000133277 uc002ejs.3 AY168638 NM_005947 CCDS10765 P07438 "6089206|3785191" MGI:97171 156349 HGNC:7394 "ENST00000334346.3|NM_005947.3" +HGNC:7395 MT1CP metallothionein 1C, pseudogene pseudogene pseudogene Approved 16q13 16q13 Metallothioneins 638 1990-09-10 2011-04-15 2016-10-05 441771 ENSG00000205360 OTTHUMG00000176918 NG_005880 "6089206|6327055|3785191" HGNC:7395 +HGNC:7396 MT1DP metallothionein 1D, pseudogene pseudogene pseudogene Approved 16q13 16q13 MTM Metallothioneins 638 1990-09-10 2016-01-29 2017-12-06 326343 ENSG00000205361 OTTHUMG00000158354 AF348999 NR_003658 A1L3X4 "6089206|6327055|3785191|25261601" HGNC:7396 +HGNC:7397 MT1E metallothionein 1E protein-coding gene gene with protein product Approved 16q13 16q13 MTD MT1 Metallothioneins 638 1990-09-10 2007-03-02 2015-09-04 4493 ENSG00000169715 OTTHUMG00000133014 uc002ejl.5 BC009699 NM_175617 "CCDS86530|CCDS10764" P04732 "6089206|2581970" MGI:97171 156351 HGNC:7397 "ENST00000330439.7|NM_001363555.2" +HGNC:7398 MT1F metallothionein 1F protein-coding gene gene with protein product Approved 16q13 16q13 MT1 Metallothioneins 638 1990-09-10 2007-03-02 2019-08-21 4494 ENSG00000198417 OTTHUMG00000176838 uc002ejt.4 BC029453 NM_005949 "CCDS32456|CCDS76872" P04733 "6089206|2581970" MGI:97171 156352 HGNC:7398 "ENST00000334350.7|NM_005949.4" +HGNC:7399 MT1G metallothionein 1G protein-coding gene gene with protein product Approved 16q13 16q13 MT1K metallothionein 1K MT1 Metallothioneins 638 1990-09-10 2015-09-04 4495 ENSG00000125144 OTTHUMG00000133275 uc002eju.2 BC020757 NM_005950 "CCDS76873|CCDS10766" P13640 "3403543|6089206" MGI:97171 156353 HGNC:7399 "ENST00000379811.4|NM_001301267.2" +HGNC:7400 MT1H metallothionein 1H protein-coding gene gene with protein product Approved 16q13 16q13 MT1 Metallothioneins 638 1990-09-10 2015-09-04 4496 ENSG00000205358 OTTHUMG00000133283 uc002ejw.3 BC008408 NM_005951 CCDS10767 P80294 "2286373|8049263" MGI:97171 156354 HGNC:7400 "ENST00000332374.5|NM_005951.2" +HGNC:31864 MT1HL1 metallothionein 1H like 1 protein-coding gene gene with protein product Approved 1q43 01q43 MT1P2 metallothionein 1 pseudogene 2 Metallothioneins 638 2007-03-01 2013-03-07 2017-01-20 2017-01-20 645745 ENSG00000244020 OTTHUMG00000040065 uc001hyk.2 AF333388 NM_001039954 CCDS31068 P0DM35 HGNC:31864 "ENST00000464121.3|NM_001276687.2" +HGNC:7401 MT1IP metallothionein 1I, pseudogene pseudogene pseudogene Approved 16q13 16q13 MTE "MT1|MT1I" metallothionein 1I Metallothioneins 638 1990-09-10 2007-03-01 2011-04-15 2020-04-03 644314 ENSG00000275691 OTTHUMG00000186942 AF348997 NR_003669 "2286373|6089206|8049263" 156355 HGNC:7401 +HGNC:7402 MT1JP metallothionein 1J, pseudogene pseudogene pseudogene Approved 16q13 16q13 MTB "MT1|MT1NP|MT1J" "metallothionein 1N, pseudogene|metallothionein 1J" Metallothioneins 638 1990-09-10 2006-01-19 2011-04-15 2017-07-14 4498 ENSG00000255986 OTTHUMG00000176920 AF348994 NR_036677 "8049263|2286373|26909858" 156356 PGOHUM00000249143 HGNC:7402 +HGNC:7404 MT1L metallothionein 1L, pseudogene pseudogene pseudogene Approved 16q13 16q13 "MTF|MT1R" MT1 metallothionein 1L (gene/pseudogene) Metallothioneins 638 1990-09-10 2017-01-20 2017-01-20 4500 ENSG00000260549 OTTHUMG00000176212 X97261 NR_001447 Q93083 "16395595|8049263|9074634" 156358 HGNC:7404 +HGNC:14296 MT1M metallothionein 1M protein-coding gene gene with protein product Approved 16q13 16q13 "MT1|MT1K" metallothionein 1K Metallothioneins 638 2005-08-22 2019-08-21 4499 ENSG00000205364 OTTHUMG00000176938 uc002ejn.4 AF136177 NM_176870 CCDS42166 Q8N339 "2286373|8049263" MGI:97171 RGD:2324335 156357 HGNC:14296 "ENST00000379818.4|NM_176870.3" +HGNC:23681 MT1P1 metallothionein 1 pseudogene 1 pseudogene pseudogene Approved 9q22.32 09q22.32 bA435O5.3 Metallothioneins 638 2004-12-07 2014-11-18 493987 ENSG00000213761 OTTHUMG00000020282 NG_005527 HGNC:23681 +HGNC:16120 MT1P3 metallothionein 1 pseudogene 3 pseudogene pseudogene Approved 20q11.22 20q11.22 dJ614O4.6 "C20orf127|MTL4" "chromosome 20 open reading frame 127|metallothionein-like 4" Metallothioneins 638 2001-07-17 2007-03-01 2007-03-01 2014-11-19 140851 ENSG00000229230 OTTHUMG00000032331 BC103840 NG_005652 HGNC:16120 +HGNC:7405 MT1X metallothionein 1X protein-coding gene gene with protein product Approved 16q13 16q13 MT-1l MT1 Metallothioneins 638 1990-09-10 2015-09-04 4501 ENSG00000187193 OTTHUMG00000133280 uc002ejy.4 BC032338 NM_005952 CCDS10768 P80297 "2286373|8049263" MGI:97171 156359 HGNC:7405 "ENST00000394485.5|NM_005952.4" +HGNC:7442 MT1XP1 metallothionein 1X pseudogene 1 pseudogene pseudogene Approved 1p36.13 01p36.13 MTL1 "metallothionein-like 1|metallothionein-like 1 pseudogene" 2001-06-22 2010-10-20 2010-10-20 2020-04-20 645652 ENSG00000233929 OTTHUMG00000037883 NG_030191 PGOHUM00000243912 HGNC:7442 +HGNC:7406 MT2A metallothionein 2A protein-coding gene gene with protein product Approved 16q13 16q13 MT2 Metallothioneins 638 2001-06-22 2014-11-18 4502 ENSG00000125148 OTTHUMG00000133281 uc002ejh.4 BC007034 NM_005953 CCDS10763 P02795 7133118 MGI:97172 RGD:1592345 156360 HGNC:7406 "ENST00000245185.6|NM_005953.5" +HGNC:7407 MT2P1 metallothionein 2 pseudogene 1 pseudogene pseudogene Approved 4q13.2 04q13.2 metallothionein 2 pseudogene 1 (processed) 2001-06-22 2012-11-02 2012-11-02 4503 ENSG00000162840 OTTHUMG00000160744 J00272 NG_001158 7133118 HGNC:7407 +HGNC:7408 MT3 metallothionein 3 protein-coding gene gene with protein product Approved 16q13 16q13 GIF metallothionein 3 (growth inhibitory factor (neurotrophic)) Metallothioneins 638 1992-10-27 2007-01-26 2014-11-19 4504 ENSG00000087250 OTTHUMG00000133282 uc002ejf.4 BC035624 NM_005954 CCDS10762 P25713 1631128 MGI:97173 RGD:621252 139255 HGNC:7408 "ENST00000200691.5|NM_005954.4" +HGNC:18705 MT4 metallothionein 4 protein-coding gene gene with protein product Approved 16q13 16q13 MTIV metallothionein IV Metallothioneins 638 2002-05-29 2007-01-26 2014-11-19 84560 ENSG00000102891 OTTHUMG00000176863 uc002eje.1 BC113442 NM_032935 CCDS42165 P47944 8003488 MGI:99692 RGD:1565500 606206 HGNC:18705 "ENST00000219162.4|NM_032935.3" +HGNC:7410 MTA1 metastasis associated 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "GATA zinc finger domain containing|Myb/SANT domain containing|NuRD complex subunits" "82|532|1305" 1999-03-12 2014-11-19 9112 ENSG00000182979 OTTHUMG00000150362 uc001yqx.4 U35113 NM_001203258 "CCDS32169|CCDS55954" Q13330 "8083195|7607577" MGI:2150037 RGD:621018 603526 HGNC:7410 "ENST00000331320.12|NM_004689.4" +HGNC:56032 MTA1-DT MTA1 divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 Divergent transcripts 1990 2021-12-06 2021-12-06 100507437 ENSG00000251602 NR_125384 +HGNC:7411 MTA2 metastasis associated 1 family member 2 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 MTA1-L1 MTA1L1 metastasis associated gene family, member 2 "GATA zinc finger domain containing|Myb/SANT domain containing|NuRD complex subunits" "82|532|1305" 1999-05-17 2003-12-17 2015-11-05 2016-10-05 9219 ENSG00000149480 OTTHUMG00000167684 uc001ntq.3 AB016591 NM_004739 "CCDS8022|CCDS81576" O94776 9929979 MGI:1346340 RGD:1306743 603947 HGNC:7411 "ENST00000278823.7|NM_004739.4" +HGNC:23784 MTA3 metastasis associated 1 family member 3 protein-coding gene gene with protein product Approved 2p21 02p21 KIAA1266 metastasis associated gene family, member 3 "GATA zinc finger domain containing|Myb/SANT domain containing|NuRD complex subunits" "82|532|1305" 2003-12-15 2015-11-05 2016-10-05 57504 ENSG00000057935 OTTHUMG00000150452 uc002rsq.5 AB033092 NM_020744 "CCDS82441|CCDS46267|CCDS62900" Q9BTC8 "12705869|14613024" MGI:2151172 RGD:1306803 609050 HGNC:23784 "ENST00000405094.2|NM_001330442.2" +HGNC:54535 MTA3P1 MTA3 pseudogene 1 pseudogene pseudogene Approved 2q24.1 02q24.1 2019-10-11 2019-10-11 2019-10-11 2019-10-11 100130766 ENSG00000228937 NG_021532 HGNC:54535 +HGNC:7413 MTAP methylthioadenosine phosphorylase protein-coding gene gene with protein product Approved 9p21.3 09p21.3 "MSAP|c86fus" S-methyl-5'-thioadenosine phosphorylase 2001-06-22 2021-05-26 4507 ENSG00000099810 OTTHUMG00000019690 uc003zph.4 AB062485 NM_002451 CCDS6509 Q13126 11126361 MGI:1914152 RGD:1310114 156540 299625 2.4.2.28 HGNC:7413 "ENST00000644715.2|NM_002451.4" HGNC:7413 +HGNC:42442 MTAPP1 methylthioadenosine phosphorylase pseudogene 1 pseudogene pseudogene Approved 3q25.32 03q25.32 2011-07-28 2012-10-16 100874257 ENSG00000243025 OTTHUMG00000158805 NG_032516 PGOHUM00000263116 HGNC:42442 +HGNC:42443 MTAPP2 methylthioadenosine phosphorylase pseudogene 2 pseudogene pseudogene Approved 3q28 03q28 2011-07-28 2011-07-28 100420621 ENSG00000230077 OTTHUMG00000156314 NG_031929 PGOHUM00000237901 HGNC:42443 +HGNC:26189 MTARC1 mitochondrial amidoxime reducing component 1 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ22390 "MOSC1|MARC1" MOCO sulphurase C-terminal domain containing 1 2005-06-03 2019-09-23 2011-11-02 2019-09-23 64757 ENSG00000186205 OTTHUMG00000037353 uc001hms.4 AK026043 NM_022746 CCDS1526 Q5VT66 11886751 MGI:1913362 RGD:1592219 614126 HGNC:26189 "ENST00000366910.10|NM_022746.4" +HGNC:26064 MTARC2 mitochondrial amidoxime reducing component 2 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ20605 "MOSC2|MARC2" MOCO sulphurase C-terminal domain containing 2 2005-06-03 2019-09-23 2011-11-02 2019-09-23 54996 ENSG00000117791 OTTHUMG00000037354 uc001hmq.4 NM_017898 "CCDS81425|CCDS1525" Q969Z3 11886751 MGI:1914497 RGD:621257 614127 HGNC:26064 "ENST00000366913.8|NM_017898.5" +HGNC:44575 MTATP6P1 MT-ATP6 pseudogene 1 pseudogene pseudogene Approved 1p36.33 01p36.33 mitochondrially encoded ATP synthase 6 pseudogene 1 2012-11-16 2018-05-29 2018-05-31 106480796 ENSG00000248527 OTTHUMG00000002335 NG_045727 PGOHUM00000296179 HGNC:44575 +HGNC:44576 MTATP6P2 MT-ATP6 pseudogene 2 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded ATP synthase 6 pseudogene 2 2012-11-16 2018-05-29 2018-05-29 100287745 ENSG00000270307 OTTHUMG00000185133 NG_027709 PGOHUM00000300695 HGNC:44576 +HGNC:44577 MTATP6P3 MT-ATP6 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded ATP synthase 6 pseudogene 3 2012-11-16 2018-05-29 2018-05-31 106479043 ENSG00000263483 OTTHUMG00000179092 NG_044446 PGOHUM00000294352 HGNC:44577 +HGNC:44578 MTATP6P4 MT-ATP6 pseudogene 4 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded ATP synthase 6 pseudogene 4 2012-11-16 2018-05-29 2018-05-31 106480797 ENSG00000236590 OTTHUMG00000153570 NG_045136 PGOHUM00000298135 HGNC:44578 +HGNC:44579 MTATP6P5 MT-ATP6 pseudogene 5 pseudogene pseudogene Approved 2q22.2 02q22.2 mitochondrially encoded ATP synthase 6 pseudogene 5 2012-11-16 2018-05-29 2019-10-16 107403073 ENSG00000284167 NG_046793 PGOHUM00000298180 HGNC:44579 +HGNC:44580 MTATP6P6 MT-ATP6 pseudogene 6 pseudogene pseudogene Approved 3p11.1 03p11.1 mitochondrially encoded ATP synthase 6 pseudogene 6 2012-11-16 2018-05-29 2018-05-29 106660633 NG_044950 PGOHUM00000299087 HGNC:44580 +HGNC:44581 MTATP6P7 MT-ATP6 pseudogene 7 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded ATP synthase 6 pseudogene 7 2012-11-16 2018-05-29 2020-04-06 106480798 ENSG00000232990 OTTHUMG00000153767 NG_044152 PGOHUM00000298696 HGNC:44581 +HGNC:44582 MTATP6P8 MT-ATP6 pseudogene 8 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded ATP synthase 6 pseudogene 8 2012-11-16 2018-05-29 2020-04-06 107131119 ENSG00000283547 NG_046637 PGOHUM00000302663 HGNC:44582 +HGNC:44583 MTATP6P9 MT-ATP6 pseudogene 9 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded ATP synthase 6 pseudogene 9 2012-11-16 2018-05-29 2020-04-06 106479044 ENSG00000248420 OTTHUMG00000161818 NG_044456 PGOHUM00000300045 HGNC:44583 +HGNC:52056 MTATP6P10 MT-ATP6 pseudogene 10 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded ATP synthase 6 pseudogene 10 2015-10-15 2018-05-29 2020-04-06 107403069 ENSG00000283626 OTTHUMG00000191807 NG_046790 PGOHUM00000302673 HGNC:52056 +HGNC:52057 MTATP6P11 MT-ATP6 pseudogene 11 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded ATP synthase 6 pseudogene 11 2015-10-15 2018-05-29 2018-05-29 107075311 ENSG00000228097 OTTHUMG00000019478 NG_068468 PGOHUM00000304086 +HGNC:52082 MTATP6P12 MT-ATP6 pseudogene 12 pseudogene pseudogene Approved 8q13.2 08q13.2 mitochondrially encoded ATP synthase 6 pseudogene 12 2015-10-20 2018-05-29 2020-04-06 107403071 NG_027682 PGOHUM00000303239 HGNC:52082 +HGNC:52058 MTATP6P13 MT-ATP6 pseudogene 13 pseudogene pseudogene Approved 1p22.1 01p22.1 mitochondrially encoded ATP synthase 6 pseudogene 13 2015-10-27 2018-05-29 2020-04-06 107075272 ENSG00000229842 OTTHUMG00000010566 NG_046401 PGOHUM00000295757 HGNC:52058 +HGNC:52059 MTATP6P14 MT-ATP6 pseudogene 14 pseudogene pseudogene Approved 1p13.3 01p13.3 mitochondrially encoded ATP synthase 6 pseudogene 14 2015-10-19 2018-05-29 2020-04-06 107075157 ENSG00000233449 OTTHUMG00000010957 NG_046402 PGOHUM00000295777 HGNC:52059 +HGNC:52060 MTATP6P15 MT-ATP6 pseudogene 15 pseudogene pseudogene Approved 11q22.3 11q22.3 mitochondrially encoded ATP synthase 6 pseudogene 15 2015-10-19 2018-05-29 2020-04-06 107075273 ENSG00000254931 OTTHUMG00000165943 NG_046403 PGOHUM00000290672 HGNC:52060 +HGNC:52061 MTATP6P16 MT-ATP6 pseudogene 16 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded ATP synthase 6 pseudogene 16 2015-10-19 2018-05-29 2018-05-31 107075158 ENSG00000224299 OTTHUMG00000154759 NG_051007 PGOHUM00000298834 HGNC:52061 +HGNC:52062 MTATP6P17 MT-ATP6 pseudogene 17 pseudogene pseudogene Approved 2q33.2 02q33.2 mitochondrially encoded ATP synthase 6 pseudogene 17 2015-10-19 2018-05-29 2018-05-31 107075274 ENSG00000235433 OTTHUMG00000154677 NG_046405 PGOHUM00000298846 HGNC:52062 +HGNC:52063 MTATP6P18 MT-ATP6 pseudogene 18 pseudogene pseudogene Approved 7q11.21 07q11.21 mitochondrially encoded ATP synthase 6 pseudogene 18 2015-10-27 2018-05-29 2020-04-06 107075159 ENSG00000227035 OTTHUMG00000156484 NG_046406 PGOHUM00000302241 HGNC:52063 +HGNC:52064 MTATP6P19 MT-ATP6 pseudogene 19 pseudogene pseudogene Approved Xq22.1 Xq22.1 mitochondrially encoded ATP synthase 6 pseudogene 19 2015-10-27 2018-05-29 2020-04-06 107075275 ENSG00000228316 OTTHUMG00000022071 NG_051997 PGOHUM00000305225 HGNC:52064 +HGNC:52176 MTATP6P20 MT-ATP6 pseudogene 20 pseudogene pseudogene Approved 22q12.3 22q12.3 mitochondrially encoded ATP synthase 6 pseudogene 20 2015-10-28 2018-05-29 2018-05-31 107075201 ENSG00000237948 OTTHUMG00000150639 NG_046407 PGOHUM00000297756 HGNC:52176 +HGNC:52177 MTATP6P21 MT-ATP6 pseudogene 21 pseudogene pseudogene Approved 7q11.22 07q11.22 mitochondrially encoded ATP synthase 6 pseudogene 21 2015-10-28 2018-05-29 2018-05-29 107075299 ENSG00000226392 OTTHUMG00000156572 NG_068464 PGOHUM00000302787 +HGNC:52178 MTATP6P22 MT-ATP6 pseudogene 22 pseudogene pseudogene Approved 3q13.12 03q13.12 mitochondrially encoded ATP synthase 6 pseudogene 22 2015-10-28 2018-05-29 2018-05-29 107075202 ENSG00000249580 OTTHUMG00000159145 NG_068442 PGOHUM00000299115 +HGNC:52179 MTATP6P23 MT-ATP6 pseudogene 23 pseudogene pseudogene Approved 10q22.1 10q22.1 mitochondrially encoded ATP synthase 6 pseudogene 23 2015-10-28 2018-05-29 2018-05-31 107075300 ENSG00000230755 OTTHUMG00000018390 NG_046408 PGOHUM00000289891 HGNC:52179 +HGNC:52180 MTATP6P24 MT-ATP6 pseudogene 24 pseudogene pseudogene Approved 16p13.13 16p13.13 mitochondrially encoded ATP synthase 6 pseudogene 24 2015-10-28 2018-05-29 2018-05-29 107075232 ENSG00000262381 OTTHUMG00000177351 NG_068448 PGOHUM00000293420 +HGNC:52181 MTATP6P25 MT-ATP6 pseudogene 25 pseudogene pseudogene Approved 6q15 06q15 mitochondrially encoded ATP synthase 6 pseudogene 25 2015-10-28 2018-05-29 2020-04-06 107075203 ENSG00000262095 OTTHUMG00000177315 NG_046409 PGOHUM00000301887 HGNC:52181 +HGNC:52182 MTATP6P26 MT-ATP6 pseudogene 26 pseudogene pseudogene Approved 2q14.2 02q14.2 mitochondrially encoded ATP synthase 6 pseudogene 26 2015-10-28 2018-05-29 2020-04-06 107075301 ENSG00000236878 OTTHUMG00000154461 NG_046410 PGOHUM00000298663 HGNC:52182 +HGNC:52183 MTATP6P27 MT-ATP6 pseudogene 27 pseudogene pseudogene Approved 19p13.2 19p13.2 mitochondrially encoded ATP synthase 6 pseudogene 27 2015-10-28 2018-05-29 2020-04-06 107075204 ENSG00000234003 OTTHUMG00000156410 NG_046411 PGOHUM00000295209 HGNC:52183 +HGNC:52184 MTATP6P28 MT-ATP6 pseudogene 28 pseudogene pseudogene Approved 2p11.2 02p11.2 mitochondrially encoded ATP synthase 6 pseudogene 28 2015-10-28 2018-05-29 2020-04-06 107403070 NG_046791 PGOHUM00000298506 HGNC:52184 +HGNC:52187 MTATP6P29 MT-ATP6 pseudogene 29 pseudogene pseudogene Approved 9q22.31 09q22.31 mitochondrially encoded ATP synthase 6 pseudogene 29 2015-10-28 2018-05-29 2018-05-29 107075315 ENSG00000232179 OTTHUMG00000021035 NG_046412 HGNC:52187 +HGNC:52185 MTATP6P30 MT-ATP6 pseudogene 30 pseudogene pseudogene Approved 9p21.1 09p21.1 mitochondrially encoded ATP synthase 6 pseudogene 30 2015-10-28 2018-05-29 2020-04-06 107075302 ENSG00000226998 OTTHUMG00000019736 NG_046413 PGOHUM00000304147 HGNC:52185 +HGNC:52186 MTATP6P31 MT-ATP6 pseudogene 31 pseudogene pseudogene Approved 6q25.2 06q25.2 mitochondrially encoded ATP synthase 6 pseudogene 31 2015-10-28 2018-05-29 2018-05-29 107075205 ENSG00000218776 OTTHUMG00000015863 NG_068443 PGOHUM00000301996 +HGNC:44571 MTATP8P1 MT-ATP8 pseudogene 1 pseudogene pseudogene Approved 1p36.33 01p36.33 mitochondrially encoded ATP synthase 8 pseudogene 1 2012-11-16 2018-05-29 2018-05-31 106480795 ENSG00000240409 OTTHUMG00000002473 NG_045722 HGNC:44571 +HGNC:44572 MTATP8P2 MT-ATP8 pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 mitochondrially encoded ATP synthase 8 pseudogene 2 2012-11-16 2018-05-29 2018-05-29 106479042 ENSG00000229604 OTTHUMG00000153275 NG_045164 HGNC:44572 +HGNC:44573 MTATP8P3 MT-ATP8 pseudogene 3 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded ATP synthase 8 pseudogene 3 2012-11-16 2018-05-29 2018-05-29 107161229 NG_046707 HGNC:44573 +HGNC:44574 MTATP8P4 MT-ATP8 pseudogene 4 pseudogene pseudogene Approved 10q24.2 10q24.2 mitochondrially encoded ATP synthase 8 pseudogene 4 2012-11-16 2018-05-29 2018-05-29 107080107 NG_046376 HGNC:44574 +HGNC:7417 MTBP MDM2 binding protein protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "MDM2 (mouse double minute 2)-binding protein, 104kD|Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa" 2000-08-23 2014-03-03 2016-10-05 27085 ENSG00000172167 OTTHUMG00000165040 uc003ypc.3 NM_022045 CCDS6333 Q96DY7 "10906133|11060448" MGI:2146005 RGD:1565672 605927 HGNC:7417 "ENST00000305949.6|NM_022045.5" +HGNC:17586 MTCH1 mitochondrial carrier 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "CGI-64|PSAP|SLC25A49" solute carrier family 25, member 49 mitochondrial carrier homolog 1 (C. elegans) Solute carriers 752 2003-05-20 2011-05-19 2014-11-19 23787 ENSG00000137409 OTTHUMG00000014614 uc003onc.3 AF151822 NM_014341 "CCDS4828|CCDS64411" Q9NZJ7 12377771 MGI:1929261 RGD:1309262 610449 SLC25A49 objectId:2554 HGNC:17586 "ENST00000373627.10|NM_001271641.2" +HGNC:55886 MTCH1P1 MTCH1 pseudogene 1 pseudogene pseudogene Approved 6q24.1 06q24.1 2021-09-29 2021-09-29 100129577 ENSG00000216802 NG_022329 PGOHUM00000301573 +HGNC:55887 MTCH1P2 MTCH1 pseudogene 2 pseudogene pseudogene Approved 11p15.1 11p15.1 2021-09-29 2021-09-29 100129966 ENSG00000256282 NG_021773 PGOHUM00000290412 +HGNC:17587 MTCH2 mitochondrial carrier 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 SLC25A50 solute carrier family 25, member 50 mitochondrial carrier homolog 2 (C. elegans) Solute carriers 752 2003-05-20 2011-05-19 2014-11-19 23788 ENSG00000109919 OTTHUMG00000166926 uc010rho.3 AF085361 NM_014342 CCDS7943 Q9Y6C9 MGI:1929260 RGD:1308080 613221 SLC25A50 objectId:2555 HGNC:17587 "ENST00000302503.8|NM_014342.4" +HGNC:29121 MTCL1 microtubule crosslinking factor 1 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "KIAA0802|CCDC165|SOGA2" "KIAA0802|coiled-coil domain containing 165|SOGA family member 2" 2004-04-29 2014-02-20 2014-02-20 2017-12-04 23255 ENSG00000168502 OTTHUMG00000131594 AB018345 NM_015210 CCDS11841 Q9Y4B5 "9872452|23902687" MGI:1915867 RGD:1308319 615766 HGNC:29121 +HGNC:42040 MTCL1P1 MTCL1 pseudogene 1 pseudogene pseudogene Approved 13q21.33 13q21.33 "CCDC165P1|SOGA2P1" "coiled-coil domain containing 165 pseudogene 1|SOGA family member 2 pseudogene 1" 2011-06-01 2014-02-20 2014-02-20 2014-02-20 100288130 ENSG00000226554 OTTHUMG00000017058 NG_029110 PGOHUM00000248625 HGNC:42040 +HGNC:7420 MTCO1P1 MT-CO1 pseudogene 1 pseudogene pseudogene Approved 21p11.2 21p11.2 "cytochrome c oxidase pseudogene 1|MTCO1 pseudogene 1|mitochondrially encoded cytochrome c oxidase I pseudogene 1" 2000-06-16 2018-05-29 2018-05-29 56167 ENSG00000280243 OTTHUMG00000189421 NG_027865 PGOHUM00000297309 HGNC:7420 +HGNC:19932 MTCO1P2 MT-CO1 pseudogene 2 pseudogene pseudogene Approved 14q12 14q12 "cytochrome c oxidase pseudogene 2|MTCO1 pseudogene 2|mitochondrially encoded cytochrome c oxidase I pseudogene 2" 2003-01-13 2018-05-29 2018-05-29 326603 ENSG00000259045 OTTHUMG00000170593 NG_002593 PGOHUM00000292314 HGNC:19932 +HGNC:39604 MTCO1P3 MT-CO1 pseudogene 3 pseudogene pseudogene Approved 21q22.3 21q22.3 "MTCO1 pseudogene 3|mitochondrially encoded cytochrome c oxidase I pseudogene 3" 2011-03-17 2018-05-29 2018-05-29 100873205 ENSG00000228930 OTTHUMG00000090406 NG_032327 PGOHUM00000297278 HGNC:39604 +HGNC:50350 MTCO1P4 MT-CO1 pseudogene 4 pseudogene pseudogene Approved 8q22.3 08q22.3 mitochondrially encoded cytochrome c oxidase I pseudogene 4 2014-04-16 2018-05-29 2018-05-29 106480684 ENSG00000253556 OTTHUMG00000164843 NG_043281 PGOHUM00000303647 HGNC:50350 +HGNC:51300 MTCO1P5 MT-CO1 pseudogene 5 pseudogene pseudogene Approved 3p25.2 03p25.2 AC026166.2-001 mitochondrially encoded cytochrome c oxidase I pseudogene 5 2014-09-25 2018-05-29 2018-05-29 106480318 ENSG00000233026 OTTHUMG00000155369 NG_044410 25243407 PGOHUM00000298947 HGNC:51300 +HGNC:52008 MTCO1P6 MT-CO1 pseudogene 6 pseudogene pseudogene Approved 3p11.1 03p11.1 mitochondrially encoded cytochrome c oxidase I pseudogene 6 2015-10-15 2018-05-29 2020-04-06 107075137 ENSG00000240309 OTTHUMG00000159038 NG_046444 PGOHUM00000299089 HGNC:52008 +HGNC:52009 MTCO1P7 MT-CO1 pseudogene 7 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded cytochrome c oxidase I pseudogene 7 2015-10-15 2018-05-29 2020-04-06 107075263 ENSG00000236211 OTTHUMG00000153771 NG_046445 PGOHUM00000298694 HGNC:52009 +HGNC:52010 MTCO1P8 MT-CO1 pseudogene 8 pseudogene pseudogene Approved 7q11.21 07q11.21 mitochondrially encoded cytochrome c oxidase I pseudogene 8 2015-10-16 2018-05-29 2020-04-06 107075138 ENSG00000234700 OTTHUMG00000156474 NG_046446 PGOHUM00000302243 HGNC:52010 +HGNC:52011 MTCO1P9 MT-CO1 pseudogene 9 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded cytochrome c oxidase I pseudogene 9 2015-10-16 2018-05-29 2020-04-06 107075139 ENSG00000251223 OTTHUMG00000161811 NG_046447 PGOHUM00000300047 HGNC:52011 +HGNC:52012 MTCO1P10 MT-CO1 pseudogene 10 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded cytochrome c oxidase I pseudogene 10 2015-10-16 2018-05-29 2020-04-06 107075140 ENSG00000236692 OTTHUMG00000156693 NG_046414 PGOHUM00000302671 HGNC:52012 +HGNC:52013 MTCO1P11 MT-CO1 pseudogene 11 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded cytochrome c oxidase I pseudogene 11 2015-10-21 2018-05-29 2018-05-29 107075264 ENSG00000224083 OTTHUMG00000019485 NG_009904 PGOHUM00000304084 +HGNC:52014 MTCO1P12 MT-CO1 pseudogene 12 pseudogene pseudogene Approved 1p36.33 01p36.33 mitochondrially encoded cytochrome c oxidase I pseudogene 12 2015-10-19 2018-05-29 2018-05-29 107075141 ENSG00000237973 OTTHUMG00000002333 NG_046415 PGOHUM00000296177 HGNC:52014 +HGNC:52015 MTCO1P13 MT-CO1 pseudogene 13 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded cytochrome c oxidase I pseudogene 13 2015-10-19 2018-05-29 2020-04-06 107105281 NG_046602 PGOHUM00000294350 HGNC:52015 +HGNC:52016 MTCO1P14 MT-CO1 pseudogene 14 pseudogene pseudogene Approved 1p13.3 01p13.3 mitochondrially encoded cytochrome c oxidase I pseudogene 14 2015-10-19 2018-05-29 2020-04-06 107075142 ENSG00000232551 OTTHUMG00000010955 NG_046416 PGOHUM00000295779 HGNC:52016 +HGNC:52017 MTCO1P15 MT-CO1 pseudogene 15 pseudogene pseudogene Approved 11q22.3 11q22.3 mitochondrially encoded cytochrome c oxidase I pseudogene 15 2015-10-19 2018-05-29 2020-04-06 107075265 ENSG00000255350 OTTHUMG00000165946 NG_046417 PGOHUM00000290674 HGNC:52017 +HGNC:52018 MTCO1P16 MT-CO1 pseudogene 16 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded cytochrome c oxidase I pseudogene 16 2015-10-19 2018-05-29 2020-04-06 107105283 NG_051007 PGOHUM00000298832 HGNC:52018 +HGNC:52019 MTCO1P17 MT-CO1 pseudogene 17 pseudogene pseudogene Approved 2q33.2 02q33.2 mitochondrially encoded cytochrome c oxidase I pseudogene 17 2015-10-19 2018-05-29 2020-04-06 107075222 ENSG00000223619 OTTHUMG00000154675 NG_046418 PGOHUM00000298844 HGNC:52019 +HGNC:52020 MTCO1P18 MT-CO1 pseudogene 18 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded cytochrome c oxidase I pseudogene 18 2015-10-19 2018-05-29 2020-04-06 107075143 ENSG00000237910 OTTHUMG00000153565 NG_046419 PGOHUM00000298137 HGNC:52020 +HGNC:52021 MTCO1P19 MT-CO1 pseudogene 19 pseudogene pseudogene Approved Xq22.1 Xq22.1 mitochondrially encoded cytochrome c oxidase I pseudogene 19 2015-10-19 2018-05-29 2020-04-06 107075144 ENSG00000237300 OTTHUMG00000022069 NG_051994 PGOHUM00000305223 HGNC:52021 +HGNC:52085 MTCO1P20 MT-CO1 pseudogene 20 pseudogene pseudogene Approved 22q12.3 22q12.3 mitochondrially encoded cytochrome c oxidase I pseudogene 20 2015-10-20 2018-05-29 2020-04-06 107075163 ENSG00000233764 OTTHUMG00000150633 NG_046420 PGOHUM00000297754 HGNC:52085 +HGNC:52086 MTCO1P21 MT-CO1 pseudogene 21 pseudogene pseudogene Approved 1p22.1 01p22.1 mitochondrially encoded cytochrome c oxidase I pseudogene 21 2015-10-20 2018-05-29 2020-04-06 107075164 ENSG00000226960 OTTHUMG00000010563 NG_046421 PGOHUM00000295759 HGNC:52086 +HGNC:52087 MTCO1P22 MT-CO1 pseudogene 22 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded cytochrome c oxidase I pseudogene 22 2015-10-20 2018-05-29 2020-04-06 107075165 ENSG00000271207 OTTHUMG00000185135 NG_046422 PGOHUM00000300697 HGNC:52087 +HGNC:52088 MTCO1P23 MT-CO1 pseudogene 23 pseudogene pseudogene Approved 10q22.1 10q22.1 mitochondrially encoded cytochrome c oxidase I pseudogene 23 2015-10-20 2018-05-29 2020-04-06 107075281 ENSG00000235524 OTTHUMG00000018387 NG_046423 PGOHUM00000289893 HGNC:52088 +HGNC:52089 MTCO1P24 MT-CO1 pseudogene 24 pseudogene pseudogene Approved 5q15 05q15 mitochondrially encoded cytochrome c oxidase I pseudogene 24 2015-10-20 2018-05-29 2020-04-06 107075166 ENSG00000249448 OTTHUMG00000162709 NG_046424 PGOHUM00000300684 HGNC:52089 +HGNC:52090 MTCO1P25 MT-CO1 pseudogene 25 pseudogene pseudogene Approved 7q11.22 07q11.22 mitochondrially encoded cytochrome c oxidase I pseudogene 25 2015-10-21 2018-05-29 2020-04-06 107075167 ENSG00000229031 OTTHUMG00000156609 NG_046425 PGOHUM00000302286 HGNC:52090 +HGNC:52091 MTCO1P26 MT-CO1 pseudogene 26 pseudogene pseudogene Approved 11p12 11p12 mitochondrially encoded cytochrome c oxidase I pseudogene 26 2015-10-21 2018-05-29 2020-04-06 107105267 NG_046585 PGOHUM00000290876 HGNC:52091 +HGNC:52092 MTCO1P27 MT-CO1 pseudogene 27 pseudogene pseudogene Approved 19p13.2 19p13.2 mitochondrially encoded cytochrome c oxidase I pseudogene 27 2015-10-20 2018-05-29 2020-04-06 107075168 ENSG00000232579 OTTHUMG00000156412 NG_046426 PGOHUM00000295207 HGNC:52092 +HGNC:52093 MTCO1P28 MT-CO1 pseudogene 28 pseudogene pseudogene Approved 16p13.3 16p13.3 mitochondrially encoded cytochrome c oxidase I pseudogene 28 2015-10-20 2018-05-29 2020-04-06 107075169 ENSG00000262118 OTTHUMG00000177597 NG_046427 PGOHUM00000293403 HGNC:52093 +HGNC:52094 MTCO1P29 MT-CO1 pseudogene 29 pseudogene pseudogene Approved 3q13.33 03q13.33 mitochondrially encoded cytochrome c oxidase I pseudogene 29 2015-10-20 2018-05-29 2020-04-06 107075225 ENSG00000240452 OTTHUMG00000159663 NG_046428 PGOHUM00000299549 HGNC:52094 +HGNC:52095 MTCO1P30 MT-CO1 pseudogene 30 pseudogene pseudogene Approved 5p15.32 05p15.32 mitochondrially encoded cytochrome c oxidase I pseudogene 30 2015-10-20 2018-05-29 2020-04-06 107075170 ENSG00000248729 OTTHUMG00000161666 NG_046429 PGOHUM00000300480 HGNC:52095 +HGNC:52096 MTCO1P31 MT-CO1 pseudogene 31 pseudogene pseudogene Approved 5p15.32 05p15.32 mitochondrially encoded cytochrome c oxidase I pseudogene 31 2015-10-20 2018-05-29 2020-04-06 107075171 ENSG00000251476 OTTHUMG00000161664 NG_046430 PGOHUM00000300482 HGNC:52096 +HGNC:52097 MTCO1P32 MT-CO1 pseudogene 32 pseudogene pseudogene Approved 20q11.21 20q11.21 mitochondrially encoded cytochrome c oxidase I pseudogene 32 2015-10-21 2018-05-29 2020-04-06 107105268 NG_046586 PGOHUM00000296961 HGNC:52097 +HGNC:52098 MTCO1P33 MT-CO1 pseudogene 33 pseudogene pseudogene Approved 22p11.2 22p11.2 mitochondrially encoded cytochrome c oxidase I pseudogene 33 2015-10-21 2018-05-29 2018-05-29 107105269 NG_046587 PGOHUM00000297579 HGNC:52098 +HGNC:52099 MTCO1P34 MT-CO1 pseudogene 34 pseudogene pseudogene Approved 22p11.2 22p11.2 mitochondrially encoded cytochrome c oxidase I pseudogene 34 2015-10-21 2018-05-29 2020-04-06 107105270 NG_046588 PGOHUM00000297407 HGNC:52099 +HGNC:52100 MTCO1P35 MT-CO1 pseudogene 35 pseudogene pseudogene Approved 3q13.12 03q13.12 mitochondrially encoded cytochrome c oxidase I pseudogene 35 2015-10-21 2018-05-29 2018-05-29 107075234 ENSG00000250630 OTTHUMG00000159143 NG_068450 PGOHUM00000299117 +HGNC:52101 MTCO1P36 MT-CO1 pseudogene 36 pseudogene pseudogene Approved 9q13 09q13 mitochondrially encoded cytochrome c oxidase I pseudogene 36 2015-10-21 2018-05-29 2020-04-06 107105272 NG_046589 PGOHUM00000304264 HGNC:52101 +HGNC:52102 MTCO1P37 MT-CO1 pseudogene 37 pseudogene pseudogene Approved Yq11.21 Yq11.21 mitochondrially encoded cytochrome c oxidase I pseudogene 37 2015-10-21 2018-05-29 2018-05-29 107105273 NG_046591 PGOHUM00000305637 HGNC:52102 +HGNC:52103 MTCO1P38 MT-CO1 pseudogene 38 pseudogene pseudogene Approved 1q43 01q43 mitochondrially encoded cytochrome c oxidase I pseudogene 38 2015-10-21 2018-05-29 2020-04-06 107105274 ENSG00000283174 OTTHUMG00000191742 NG_046592 PGOHUM00000296112 HGNC:52103 +HGNC:52104 MTCO1P39 MT-CO1 pseudogene 39 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded cytochrome c oxidase I pseudogene 39 2015-10-20 2018-05-29 2020-04-06 107075282 ENSG00000224254 OTTHUMG00000059470 NG_046431 PGOHUM00000294313 HGNC:52104 +HGNC:52105 MTCO1P40 MT-CO1 pseudogene 40 pseudogene pseudogene Approved 17q22 17q22 mitochondrially encoded cytochrome c oxidase I pseudogene 40 2015-10-20 2018-05-29 2020-04-06 107075172 ENSG00000262902 OTTHUMG00000177751 NG_054740 PGOHUM00000294477 HGNC:52105 +HGNC:52106 MTCO1P41 MT-CO1 pseudogene 41 pseudogene pseudogene Approved 19q13.12 19q13.12 mitochondrially encoded cytochrome c oxidase I pseudogene 41 2015-10-21 2018-05-29 2020-04-06 107105277 NG_046595 PGOHUM00000295353 HGNC:52106 +HGNC:52107 MTCO1P42 MT-CO1 pseudogene 42 pseudogene pseudogene Approved 2p16.3 02p16.3 mitochondrially encoded cytochrome c oxidase I pseudogene 42 2015-10-20 2018-05-29 2020-04-06 107075283 ENSG00000230327 OTTHUMG00000151798 NG_046432 PGOHUM00000297861 HGNC:52107 +HGNC:52108 MTCO1P43 MT-CO1 pseudogene 43 pseudogene pseudogene Approved 2q14.1 02q14.1 mitochondrially encoded cytochrome c oxidase I pseudogene 43 2015-10-20 2018-05-29 2020-04-06 107075173 ENSG00000228898 OTTHUMG00000153404 NG_046433 PGOHUM00000298658 HGNC:52108 +HGNC:52109 MTCO1P44 MT-CO1 pseudogene 44 pseudogene pseudogene Approved 2q22.1 02q22.1 mitochondrially encoded cytochrome c oxidase I pseudogene 44 2015-10-20 2018-05-29 2020-04-06 107075226 ENSG00000227149 OTTHUMG00000153663 NG_046434 PGOHUM00000298167 HGNC:52109 +HGNC:52110 MTCO1P45 MT-CO1 pseudogene 45 pseudogene pseudogene Approved 2q24.1 02q24.1 mitochondrially encoded cytochrome c oxidase I pseudogene 45 2015-10-21 2018-05-29 2020-04-06 107075174 ENSG00000232982 OTTHUMG00000153812 NG_046435 PGOHUM00000298195 HGNC:52110 +HGNC:52111 MTCO1P46 MT-CO1 pseudogene 46 pseudogene pseudogene Approved 2q34 02q34 mitochondrially encoded cytochrome c oxidase I pseudogene 46 2015-10-21 2018-05-29 2020-04-06 107075175 ENSG00000236007 OTTHUMG00000154767 NG_011805 PGOHUM00000298873 HGNC:52111 +HGNC:52112 MTCO1P47 MT-CO1 pseudogene 47 pseudogene pseudogene Approved 8q23.2 08q23.2 mitochondrially encoded cytochrome c oxidase I pseudogene 47 2015-10-21 2018-05-29 2020-04-06 107075284 ENSG00000254241 OTTHUMG00000164907 NG_046437 PGOHUM00000303356 HGNC:52112 +HGNC:52113 MTCO1P48 MT-CO1 pseudogene 48 pseudogene pseudogene Approved 2q11.1 02q11.1 mitochondrially encoded cytochrome c oxidase I pseudogene 48 2015-10-21 2018-05-29 2018-05-29 107075176 ENSG00000237055 OTTHUMG00000155136 NG_068437 PGOHUM00000298010 +HGNC:52114 MTCO1P49 MT-CO1 pseudogene 49 pseudogene pseudogene Approved 8q24.22 08q24.22 mitochondrially encoded cytochrome c oxidase I pseudogene 49 2015-10-21 2018-05-29 2020-04-06 107075177 ENSG00000253916 OTTHUMG00000164536 NG_046438 PGOHUM00000303687 HGNC:52114 +HGNC:52115 MTCO1P50 MT-CO1 pseudogene 50 pseudogene pseudogene Approved 9q21.31 09q21.31 "MT-CO1 pseudogene 50|mitochondrially encoded cytochrome c oxidase I pseudogene 50" 2015-10-21 2018-05-29 2020-04-06 107105279 NG_046599 PGOHUM00000303946 HGNC:52115 +HGNC:52116 MTCO1P51 MT-CO1 pseudogene 51 pseudogene pseudogene Approved 9q21.31 09q21.31 mitochondrially encoded cytochrome c oxidase I pseudogene 51 2015-10-21 2018-05-29 2018-05-29 100287067 ENSG00000232981 OTTHUMG00000020078 NG_032774 PGOHUM00000303950 HGNC:52116 +HGNC:52117 MTCO1P52 MT-CO1 pseudogene 52 pseudogene pseudogene Approved Xp11.21 Xp11.21 mitochondrially encoded cytochrome c oxidase I pseudogene 52 2015-10-21 2018-05-29 2020-04-06 107075227 ENSG00000229760 OTTHUMG00000021647 NG_046439 PGOHUM00000304645 HGNC:52117 +HGNC:52118 MTCO1P53 MT-CO1 pseudogene 53 pseudogene pseudogene Approved Xq25 Xq25 mitochondrially encoded cytochrome c oxidase I pseudogene 53 2015-10-21 2018-05-29 2020-04-06 107075285 ENSG00000230916 OTTHUMG00000022350 NG_046440 PGOHUM00000305303 HGNC:52118 +HGNC:52119 MTCO1P54 MT-CO1 pseudogene 54 pseudogene pseudogene Approved 2q33.2 02q33.2 mitochondrially encoded cytochrome c oxidase I pseudogene 54 2015-10-21 2018-05-29 2018-05-29 107075178 ENSG00000233311 OTTHUMG00000154673 NG_046441 PGOHUM00000298286 HGNC:52119 +HGNC:52120 MTCO1P55 MT-CO1 pseudogene 55 pseudogene pseudogene Approved 7q34 07q34 mitochondrially encoded cytochrome c oxidase I pseudogene 55 2015-10-21 2018-05-29 2020-04-06 107075179 ENSG00000241926 OTTHUMG00000157633 NG_046442 PGOHUM00000302451 HGNC:52120 +HGNC:52121 MTCO1P56 MT-CO1 pseudogene 56 pseudogene pseudogene Approved 6q15 06q15 mitochondrially encoded cytochrome c oxidase I pseudogene 56 2015-10-21 2018-05-29 2020-04-06 107075286 ENSG00000220340 OTTHUMG00000015219 NG_046443 PGOHUM00000301472 HGNC:52121 +HGNC:52315 MTCO1P57 MT-CO1 pseudogene 57 pseudogene pseudogene Approved 7q11.22 07q11.22 mitochondrially encoded cytochrome c oxidase I pseudogene 57 2016-07-22 2018-05-29 2020-04-06 109729155 ENSG00000232975 OTTHUMG00000156581 NG_052922 PGOHUM00000302789 HGNC:52315 +HGNC:16564 MTCO2P1 MT-CO2 pseudogene 1 pseudogene pseudogene Approved 20q13.33 20q13.33 dJ342K12.1 MTCO2L "cytochrome c oxidase II-like|MTCO2 like|MTCO2 pseudogene 1|mitochondrially encoded cytochrome c oxidase II pseudogene 1" 2001-09-17 2010-08-18 2018-05-29 2018-05-29 140909 ENSG00000229690 OTTHUMG00000032881 AL121918 NG_001007 PGOHUM00000297031 HGNC:16564 +HGNC:25354 MTCO2P2 MT-CO2 pseudogene 2 pseudogene pseudogene Approved 18q21.1 18q21.1 HsT4010 "MTCO2 pseudogene 2|mitochondrially encoded cytochrome c oxidase II pseudogene 2" 2011-03-15 2018-05-29 2018-05-29 100873202 ENSG00000267541 OTTHUMG00000180285 NG_032189 PGOHUM00000294658 HGNC:25354 +HGNC:39576 MTCO2P3 MT-CO2 pseudogene 3 pseudogene pseudogene Approved 13q21.1 13q21.1 "MTCO2 pseudogene 3|mitochondrially encoded cytochrome c oxidase II pseudogene 3" 2011-03-15 2018-05-29 2018-05-29 100873203 ENSG00000230009 OTTHUMG00000016988 NG_032320 PGOHUM00000292167 HGNC:39576 +HGNC:50349 MTCO2P4 MT-CO2 pseudogene 4 pseudogene pseudogene Approved 8q22.3 08q22.3 mitochondrially encoded cytochrome c oxidase II pseudogene 4 2014-04-16 2018-05-29 2018-05-29 106480296 ENSG00000253977 OTTHUMG00000164844 NG_044225 HGNC:50349 +HGNC:52124 MTCO2P5 MT-CO2 pseudogene 5 pseudogene pseudogene Approved 2q22.2 02q22.2 mitochondrially encoded cytochrome c oxidase II pseudogene 5 2015-10-23 2018-05-29 2020-04-06 107075181 ENSG00000231766 OTTHUMG00000153841 NG_046463 PGOHUM00000298181 HGNC:52124 +HGNC:52022 MTCO2P6 MT-CO2 pseudogene 6 pseudogene pseudogene Approved 3p11.1 03p11.1 mitochondrially encoded cytochrome c oxidase II pseudogene 6 2015-10-19 2018-05-29 2020-04-06 107075266 ENSG00000240951 OTTHUMG00000159039 NG_046464 PGOHUM00000299088 HGNC:52022 +HGNC:52023 MTCO2P7 MT-CO2 pseudogene 7 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded cytochrome c oxidase II pseudogene 7 2015-10-19 2018-05-29 2020-04-06 107075145 ENSG00000230496 OTTHUMG00000153775 NG_046465 PGOHUM00000298695 HGNC:52023 +HGNC:52024 MTCO2P8 MT-CO2 pseudogene 8 pseudogene pseudogene Approved 7q11.21 07q11.21 mitochondrially encoded cytochrome c oxidase II pseudogene 8 2015-10-19 2018-05-29 2020-04-06 107075146 ENSG00000234234 OTTHUMG00000156476 NG_046466 PGOHUM00000302242 HGNC:52024 +HGNC:52025 MTCO2P9 MT-CO2 pseudogene 9 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded cytochrome c oxidase II pseudogene 9 2015-10-19 2018-05-29 2020-04-06 107075267 ENSG00000249386 OTTHUMG00000161814 NG_046467 PGOHUM00000300046 HGNC:52025 +HGNC:52026 MTCO2P10 MT-CO2 pseudogene 10 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded cytochrome c oxidase II pseudogene 10 2015-10-19 2018-05-29 2020-04-06 107161153 ENSG00000284291 OTTHUMG00000192007 NG_046693 PGOHUM00000302672 HGNC:52026 +HGNC:52027 MTCO2P11 MT-CO2 pseudogene 11 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded cytochrome c oxidase II pseudogene 11 2015-10-19 2018-05-29 2018-05-29 107075214 ENSG00000235917 OTTHUMG00000019480 NG_009904 PGOHUM00000304085 +HGNC:52028 MTCO2P12 MT-CO2 pseudogene 12 pseudogene pseudogene Approved 1p36.33 01p36.33 mitochondrially encoded cytochrome c oxidase II pseudogene 12 2015-10-19 2018-05-29 2020-04-06 107075310 ENSG00000229344 OTTHUMG00000002334 NG_046448 MGI:102503 PGOHUM00000296178 HGNC:52028 +HGNC:52029 MTCO2P13 MT-CO2 pseudogene 13 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded cytochrome c oxidase II pseudogene 13 2015-10-19 2018-05-29 2020-04-06 107403168 NG_046814 PGOHUM00000294351 HGNC:52029 +HGNC:52030 MTCO2P14 MT-CO2 pseudogene 14 pseudogene pseudogene Approved 1p13.3 01p13.3 mitochondrially encoded cytochrome c oxidase II pseudogene 14 2015-10-19 2018-05-29 2020-04-06 107403169 NG_046815 PGOHUM00000295778 HGNC:52030 +HGNC:52031 MTCO2P15 MT-CO2 pseudogene 15 pseudogene pseudogene Approved 11q22.3 11q22.3 mitochondrially encoded cytochrome c oxidase II pseudogene 15 2015-10-19 2018-05-29 2020-04-06 107075147 ENSG00000255417 OTTHUMG00000165945 NG_046449 PGOHUM00000290673 HGNC:52031 +HGNC:52032 MTCO2P16 MT-CO2 pseudogene 16 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded cytochrome c oxidase II pseudogene 16 2015-10-19 2018-05-29 2020-04-06 107075148 ENSG00000234842 OTTHUMG00000154761 NG_046450 PGOHUM00000298833 HGNC:52032 +HGNC:52033 MTCO2P17 MT-CO2 pseudogene 17 pseudogene pseudogene Approved 2q33.2 02q33.2 mitochondrially encoded cytochrome c oxidase II pseudogene 17 2015-10-19 2018-05-29 2020-04-06 107075268 ENSG00000233888 OTTHUMG00000154676 NG_046451 PGOHUM00000298845 HGNC:52033 +HGNC:52034 MTCO2P18 MT-CO2 pseudogene 18 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded cytochrome c oxidase II pseudogene 18 2015-10-19 2018-05-29 2020-04-06 107075149 ENSG00000234480 OTTHUMG00000153564 NG_046452 PGOHUM00000298136 HGNC:52034 +HGNC:52035 MTCO2P19 MT-CO2 pseudogene 19 pseudogene pseudogene Approved Xq22.1 Xq22.1 mitochondrially encoded cytochrome c oxidase II pseudogene 19 2015-10-19 2018-05-29 2020-04-06 107075223 ENSG00000237628 OTTHUMG00000022070 NG_051995 PGOHUM00000305224 HGNC:52035 +HGNC:52149 MTCO2P20 MT-CO2 pseudogene 20 pseudogene pseudogene Approved 22q12.3 22q12.3 mitochondrially encoded cytochrome c oxidase II pseudogene 20 2015-10-23 2018-05-29 2020-04-06 107075230 ENSG00000231576 OTTHUMG00000150631 NG_046453 PGOHUM00000297755 HGNC:52149 +HGNC:52150 MTCO2P21 MT-CO2 pseudogene 21 pseudogene pseudogene Approved 1p22.1 01p22.1 mitochondrially encoded cytochrome c oxidase II pseudogene 21 2015-10-23 2018-05-29 2020-04-06 107075191 ENSG00000236689 OTTHUMG00000010565 NG_046454 PGOHUM00000295758 HGNC:52150 +HGNC:52151 MTCO2P22 MT-CO2 pseudogene 22 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded cytochrome c oxidase II pseudogene 22 2015-10-23 2018-05-29 2018-05-29 100289404 ENSG00000270225 OTTHUMG00000185134 NG_027710 PGOHUM00000300696 HGNC:52151 +HGNC:52152 MTCO2P23 MT-CO2 pseudogene 23 pseudogene pseudogene Approved 10q22.1 10q22.1 mitochondrially encoded cytochrome c oxidase II pseudogene 23 2015-10-23 2018-05-29 2018-05-31 107075192 ENSG00000235803 OTTHUMG00000018389 NG_046455 PGOHUM00000289892 HGNC:52152 +HGNC:52153 MTCO2P24 MT-CO2 pseudogene 24 pseudogene pseudogene Approved 5q15 05q15 mitochondrially encoded cytochrome c oxidase II pseudogene 24 2015-10-23 2018-05-29 2020-04-06 107075193 ENSG00000249990 OTTHUMG00000162716 NG_046456 PGOHUM00000300683 HGNC:52153 +HGNC:52154 MTCO2P25 MT-CO2 pseudogene 25 pseudogene pseudogene Approved 7q11.22 07q11.22 mitochondrially encoded cytochrome c oxidase II pseudogene 25 2015-10-23 2018-05-29 2020-04-06 107075290 ENSG00000230654 OTTHUMG00000156610 NG_046457 PGOHUM00000302285 HGNC:52154 +HGNC:52155 MTCO2P26 MT-CO2 pseudogene 26 pseudogene pseudogene Approved 11p12 11p12 mitochondrially encoded cytochrome c oxidase II pseudogene 26 2015-10-23 2018-05-29 2020-04-06 107403163 NG_046812 PGOHUM00000290877 HGNC:52155 +HGNC:52156 MTCO2P27 MT-CO2 pseudogene 27 pseudogene pseudogene Approved 19p13.2 19p13.2 mitochondrially encoded cytochrome c oxidase II pseudogene 27 2015-10-23 2018-05-29 2020-04-06 107075291 ENSG00000230321 OTTHUMG00000156415 NG_046458 PGOHUM00000295208 HGNC:52156 +HGNC:52157 MTCO2P28 MT-CO2 pseudogene 28 pseudogene pseudogene Approved 16p13.3 16p13.3 mitochondrially encoded cytochrome c oxidase II pseudogene 28 2015-10-23 2018-05-29 2020-04-06 107126362 NG_046635 PGOHUM00000293402 HGNC:52157 +HGNC:52158 MTCO2P29 MT-CO2 pseudogene 29 pseudogene pseudogene Approved 3q13.33 03q13.33 mitochondrially encoded cytochrome c oxidase II pseudogene 29 2015-10-23 2018-05-29 2020-04-06 107075194 ENSG00000243257 OTTHUMG00000159665 NG_046459 PGOHUM00000299550 HGNC:52158 +HGNC:52159 MTCO2P30 MT-CO2 pseudogene 30 pseudogene pseudogene Approved 5p15.32 05p15.32 mitochondrially encoded cytochrome c oxidase II pseudogene 30 2015-10-23 2018-05-29 2020-04-06 107075195 ENSG00000250808 OTTHUMG00000161667 NG_046460 PGOHUM00000300481 HGNC:52159 +HGNC:52160 MTCO2P31 MT-CO2 pseudogene 31 pseudogene pseudogene Approved 6q25.2 06q25.2 mitochondrially encoded cytochrome c oxidase II pseudogene 31 2015-10-23 2018-05-29 2020-04-06 107075292 ENSG00000217160 OTTHUMG00000015861 NG_046461 PGOHUM00000301995 HGNC:52160 +HGNC:52161 MTCO2P32 MT-CO2 pseudogene 32 pseudogene pseudogene Approved 5p15.33 05p15.33 mitochondrially encoded cytochrome c oxidase II pseudogene 32 2015-10-23 2018-05-29 2018-05-29 107075196 ENSG00000248951 OTTHUMG00000161735 NG_068440 PGOHUM00000300476 +HGNC:52162 MTCO2P33 MT-CO2 pseudogene 33 pseudogene pseudogene Approved 6p22.3 06p22.3 mitochondrially encoded cytochrome c oxidase II pseudogene 33 2015-10-23 2018-05-29 2020-04-06 107075197 ENSG00000217083 OTTHUMG00000014376 NG_051606 PGOHUM00000301679 HGNC:52162 +HGNC:52316 MTCO2P34 MT-CO2 pseudogene 34 pseudogene pseudogene Approved 1p32.3 01p32.3 mitochondrially encoded cytochrome c oxidase II pseudogene 34 2016-07-22 2018-05-29 2020-04-06 109729142 ENSG00000232198 OTTHUMG00000008213 NG_052923 PGOHUM00000295689 HGNC:52316 +HGNC:31342 MTCO3P1 MT-CO3 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 U92032.1 "cytochrome c oxidase III pseudogene 1|MTCO3 pseudogene 1|mitochondrially encoded cytochrome c oxidase III pseudogene 1" 2004-03-02 2018-05-29 2018-05-29 404026 ENSG00000235040 OTTHUMG00000031271 NG_027900 PGOHUM00000301334 HGNC:31342 +HGNC:39681 MTCO3P2 MT-CO3 pseudogene 2 pseudogene pseudogene Approved 13q12.12 13q12.12 "MTCO3 pseudogene 2|mitochondrially encoded cytochrome c oxidase III pseudogene 2" 2011-03-22 2018-05-29 2018-05-29 100873207 ENSG00000232102 OTTHUMG00000016569 NG_032347 HGNC:39681 +HGNC:52080 MTCO3P3 MT-CO3 pseudogene 3 pseudogene pseudogene Approved 8q13.2 08q13.2 mitochondrially encoded cytochrome c oxidase III pseudogene 3 2015-10-21 2018-05-29 2020-04-06 107403237 NG_027682 PGOHUM00000303238 HGNC:52080 +HGNC:52079 MTCO3P4 MT-CO3 pseudogene 4 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded cytochrome c oxidase III pseudogene 4 2015-10-21 2018-05-29 2020-04-06 107075216 ENSG00000228851 OTTHUMG00000156678 NG_046482 PGOHUM00000302674 HGNC:52079 +HGNC:52123 MTCO3P5 MT-CO3 pseudogene 5 pseudogene pseudogene Approved 2q22.2 02q22.2 mitochondrially encoded cytochrome c oxidase III pseudogene 5 2015-10-23 2018-05-29 2020-04-06 107075228 ENSG00000225476 OTTHUMG00000153838 NG_046489 PGOHUM00000298179 HGNC:52123 +HGNC:52036 MTCO3P6 MT-CO3 pseudogene 6 pseudogene pseudogene Approved 3p11.1 03p11.1 mitochondrially encoded cytochrome c oxidase III pseudogene 6 2015-10-19 2018-05-29 2020-04-06 107403235 NG_046818 PGOHUM00000299086 HGNC:52036 +HGNC:52037 MTCO3P7 MT-CO3 pseudogene 7 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded cytochrome c oxidase III pseudogene 7 2015-10-19 2018-05-29 2018-05-29 107075150 ENSG00000249997 OTTHUMG00000153777 NG_068434 PGOHUM00000298697 +HGNC:52038 MTCO3P8 MT-CO3 pseudogene 8 pseudogene pseudogene Approved 7q11.21 07q11.21 mitochondrially encoded cytochrome c oxidase III pseudogene 8 2015-10-19 2018-05-29 2019-08-14 107075151 ENSG00000233385 OTTHUMG00000156470 NG_046490 PGOHUM00000302240 HGNC:52038 +HGNC:52039 MTCO3P9 MT-CO3 pseudogene 9 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded cytochrome c oxidase III pseudogene 9 2015-10-19 2018-05-29 2020-04-06 107075269 ENSG00000249698 OTTHUMG00000161819 NG_046491 PGOHUM00000300044 HGNC:52039 +HGNC:52040 MTCO3P10 MT-CO3 pseudogene 10 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded cytochrome c oxidase III pseudogene 10 2015-10-19 2018-05-29 2018-05-31 107075152 ENSG00000231537 OTTHUMG00000156676 NG_046468 PGOHUM00000302664 HGNC:52040 +HGNC:52041 MTCO3P11 MT-CO3 pseudogene 11 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded cytochrome c oxidase III pseudogene 11 2015-10-16 2018-05-29 2018-05-29 107075153 ENSG00000237711 OTTHUMG00000019479 NG_046969 PGOHUM00000304087 +HGNC:52042 MTCO3P12 MT-CO3 pseudogene 12 pseudogene pseudogene Approved 1p36.33 01p36.33 mitochondrially encoded cytochrome c oxidase III pseudogene 12 2015-10-19 2018-05-29 2020-04-06 107075270 ENSG00000198744 OTTHUMG00000002337 NG_051915 PGOHUM00000296180 HGNC:52042 +HGNC:52043 MTCO3P13 MT-CO3 pseudogene 13 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded cytochrome c oxidase III pseudogene 13 2015-10-19 2018-05-29 2020-04-06 107075224 ENSG00000264316 OTTHUMG00000179093 NG_046469 PGOHUM00000294353 HGNC:52043 +HGNC:52044 MTCO3P14 MT-CO3 pseudogene 14 pseudogene pseudogene Approved 1p13.3 01p13.3 mitochondrially encoded cytochrome c oxidase III pseudogene 14 2015-10-19 2018-05-29 2020-04-06 107403236 NG_046819 PGOHUM00000295776 HGNC:52044 +HGNC:52045 MTCO3P15 MT-CO3 pseudogene 15 pseudogene pseudogene Approved 11q22.3 11q22.3 mitochondrially encoded cytochrome c oxidase III pseudogene 15 2015-10-19 2018-05-29 2020-04-06 107075154 ENSG00000254895 OTTHUMG00000165942 NG_016423 PGOHUM00000290671 HGNC:52045 +HGNC:52046 MTCO3P16 MT-CO3 pseudogene 16 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded cytochrome c oxidase III pseudogene 16 2015-10-19 2018-05-29 2020-04-06 107075155 ENSG00000227736 OTTHUMG00000154756 NG_046471 PGOHUM00000298835 HGNC:52046 +HGNC:52047 MTCO3P17 MT-CO3 pseudogene 17 pseudogene pseudogene Approved 2q33.2 02q33.2 mitochondrially encoded cytochrome c oxidase III pseudogene 17 2015-10-19 2018-05-29 2020-04-06 107075271 ENSG00000237542 OTTHUMG00000154678 NG_046472 PGOHUM00000298847 HGNC:52047 +HGNC:52048 MTCO3P18 MT-CO3 pseudogene 18 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded cytochrome c oxidase III pseudogene 18 2015-10-19 2018-05-29 2018-05-31 107075215 ENSG00000227661 OTTHUMG00000153571 NG_046473 PGOHUM00000298134 HGNC:52048 +HGNC:52049 MTCO3P19 MT-CO3 pseudogene 19 pseudogene pseudogene Approved Xq22.1 Xq22.1 mitochondrially encoded cytochrome c oxidase III pseudogene 19 2015-10-19 2018-05-29 2020-04-06 107075156 ENSG00000224471 OTTHUMG00000022072 NG_051999 PGOHUM00000305226 HGNC:52049 +HGNC:52122 MTCO3P20 MT-CO3 pseudogene 20 pseudogene pseudogene Approved 22q12.3 22q12.3 mitochondrially encoded cytochrome c oxidase III pseudogene 20 2015-10-23 2018-05-29 2020-04-06 107075180 ENSG00000225557 OTTHUMG00000150635 NG_046474 PGOHUM00000297757 HGNC:52122 +HGNC:52083 MTCO3P21 MT-CO3 pseudogene 21 pseudogene pseudogene Approved 1p22.1 01p22.1 mitochondrially encoded cytochrome c oxidase III pseudogene 21 2015-10-21 2018-05-29 2020-04-06 107075162 ENSG00000232752 OTTHUMG00000010567 NG_046475 HGNC:52083 +HGNC:52125 MTCO3P22 MT-CO3 pseudogene 22 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded cytochrome c oxidase III pseudogene 22 2015-10-23 2018-05-29 2018-05-29 100289371 ENSG00000270388 OTTHUMG00000185132 NG_027708 PGOHUM00000300694 HGNC:52125 +HGNC:52126 MTCO3P23 MT-CO3 pseudogene 23 pseudogene pseudogene Approved 15q21.3 15q21.3 mitochondrially encoded cytochrome c oxidase III pseudogene 23 2015-10-23 2018-05-29 2018-05-29 107075182 ENSG00000259651 OTTHUMG00000171994 NG_011975 PGOHUM00000293249 +HGNC:52127 MTCO3P24 MT-CO3 pseudogene 24 pseudogene pseudogene Approved 16p13.13 16p13.13 mitochondrially encoded cytochrome c oxidase III pseudogene 24 2015-10-23 2018-05-29 2018-05-29 107075217 ENSG00000262158 OTTHUMG00000177350 NG_068447 PGOHUM00000293419 +HGNC:52128 MTCO3P25 MT-CO3 pseudogene 25 pseudogene pseudogene Approved 11q14.1 11q14.1 mitochondrially encoded cytochrome c oxidase III pseudogene 25 2015-10-23 2018-05-29 2020-04-06 107403240 NG_046821 PGOHUM00000291051 HGNC:52128 +HGNC:52129 MTCO3P26 MT-CO3 pseudogene 26 pseudogene pseudogene Approved 21p11.2 21p11.2 mitochondrially encoded cytochrome c oxidase III pseudogene 26 2015-10-23 2018-05-29 2020-04-06 107403241 NG_046822 PGOHUM00000297189 HGNC:52129 +HGNC:52130 MTCO3P27 MT-CO3 pseudogene 27 pseudogene pseudogene Approved 4q13.1 04q13.1 mitochondrially encoded cytochrome c oxidase III pseudogene 27 2015-10-23 2018-05-29 2020-04-06 107075183 ENSG00000251430 OTTHUMG00000162345 NG_046476 PGOHUM00000300227 HGNC:52130 +HGNC:52131 MTCO3P28 MT-CO3 pseudogene 28 pseudogene pseudogene Approved 4q13.1 04q13.1 mitochondrially encoded cytochrome c oxidase III pseudogene 28 2015-10-23 2018-05-29 2019-08-14 107075184 ENSG00000248328 OTTHUMG00000162344 NG_046477 PGOHUM00000299846 HGNC:52131 +HGNC:52132 MTCO3P29 MT-CO3 pseudogene 29 pseudogene pseudogene Approved 9q22.31 09q22.31 mitochondrially encoded cytochrome c oxidase III pseudogene 29 2015-10-23 2018-05-29 2020-04-06 107075185 ENSG00000228069 OTTHUMG00000020215 NG_046478 PGOHUM00000304383 HGNC:52132 +HGNC:52133 MTCO3P30 MT-CO3 pseudogene 30 pseudogene pseudogene Approved 9p21.1 09p21.1 mitochondrially encoded cytochrome c oxidase III pseudogene 30 2015-10-23 2018-05-29 2020-04-06 107075229 ENSG00000229080 OTTHUMG00000019737 NG_046479 PGOHUM00000304148 HGNC:52133 +HGNC:52134 MTCO3P31 MT-CO3 pseudogene 31 pseudogene pseudogene Approved 6q25.2 06q25.2 mitochondrially encoded cytochrome c oxidase III pseudogene 31 2015-10-23 2018-05-29 2018-05-29 107075186 ENSG00000217044 OTTHUMG00000015864 NG_068439 PGOHUM00000301997 +HGNC:52135 MTCO3P32 MT-CO3 pseudogene 32 pseudogene pseudogene Approved 20q11.21 20q11.21 mitochondrially encoded cytochrome c oxidase III pseudogene 32 2015-10-23 2018-05-29 2020-04-06 107436001 NG_046824 PGOHUM00000297101 HGNC:52135 +HGNC:52136 MTCO3P33 MT-CO3 pseudogene 33 pseudogene pseudogene Approved 22p11.2 22p11.2 mitochondrially encoded cytochrome c oxidase III pseudogene 33 2015-10-23 2018-05-29 2020-04-06 107436003 NG_046826 PGOHUM00000297404 HGNC:52136 +HGNC:52137 MTCO3P34 MT-CO3 pseudogene 34 pseudogene pseudogene Approved 22p11.2 22p11.2 mitochondrially encoded cytochrome c oxidase III pseudogene 34 2015-10-23 2018-05-29 2019-08-14 107436004 NG_046827 PGOHUM00000297587 HGNC:52137 +HGNC:52138 MTCO3P35 MT-CO3 pseudogene 35 pseudogene pseudogene Approved 3q13.12 03q13.12 mitochondrially encoded cytochrome c oxidase III pseudogene 35 2015-10-23 2018-05-29 2018-05-29 107075287 ENSG00000242836 OTTHUMG00000159147 NG_068462 PGOHUM00000299114 +HGNC:52139 MTCO3P36 MT-CO3 pseudogene 36 pseudogene pseudogene Approved 9q13 09q13 mitochondrially encoded cytochrome c oxidase III pseudogene 36 2015-10-23 2018-05-29 2020-04-06 107436006 NG_046828 PGOHUM00000303879 HGNC:52139 +HGNC:52140 MTCO3P37 MT-CO3 pseudogene 37 pseudogene pseudogene Approved Yq11.21 Yq11.21 mitochondrially encoded cytochrome c oxidase III pseudogene 37 2015-10-23 2018-05-29 2020-04-06 107436007 NG_046829 PGOHUM00000305469 HGNC:52140 +HGNC:52141 MTCO3P38 MT-CO3 pseudogene 38 pseudogene pseudogene Approved 3q26.1 03q26.1 mitochondrially encoded cytochrome c oxidase III pseudogene 38 2015-10-23 2018-05-29 2020-04-06 107075187 ENSG00000242456 OTTHUMG00000158211 NG_046480 PGOHUM00000299261 HGNC:52141 +HGNC:52142 MTCO3P39 MT-CO3 pseudogene 39 pseudogene pseudogene Approved 4p11 04p11 mitochondrially encoded cytochrome c oxidase III pseudogene 39 2015-10-23 2018-05-29 2019-08-14 107075313 ENSG00000268736 OTTHUMG00000163199 NG_046481 PGOHUM00000300201 HGNC:52142 +HGNC:52143 MTCO3P40 MT-CO3 pseudogene 40 pseudogene pseudogene Approved 9q21.32 09q21.32 mitochondrially encoded cytochrome c oxidase III pseudogene 40 2015-10-23 2018-05-29 2019-08-14 107075188 ENSG00000228046 OTTHUMG00000020095 NG_046483 PGOHUM00000303955 HGNC:52143 +HGNC:52144 MTCO3P41 MT-CO3 pseudogene 41 pseudogene pseudogene Approved 7q11.22 07q11.22 mitochondrially encoded cytochrome c oxidase III pseudogene 41 2015-10-23 2018-05-29 2018-05-31 107075288 ENSG00000237466 OTTHUMG00000156573 NG_054743 PGOHUM00000302788 HGNC:52144 +HGNC:52145 MTCO3P42 MT-CO3 pseudogene 42 pseudogene pseudogene Approved 4p11 04p11 mitochondrially encoded cytochrome c oxidase III pseudogene 42 2015-10-23 2018-05-29 2020-04-06 107075189 ENSG00000268391 OTTHUMG00000160595 NG_046484 PGOHUM00000299824 HGNC:52145 +HGNC:52146 MTCO3P43 MT-CO3 pseudogene 43 pseudogene pseudogene Approved 2q14.2 02q14.2 mitochondrially encoded cytochrome c oxidase III pseudogene 43 2015-10-23 2018-05-29 2019-08-14 107075190 ENSG00000227788 OTTHUMG00000154457 NG_046485 PGOHUM00000298664 HGNC:52146 +HGNC:52147 MTCO3P44 MT-CO3 pseudogene 44 pseudogene pseudogene Approved 4p15.2 04p15.2 mitochondrially encoded cytochrome c oxidase III pseudogene 44 2015-10-23 2018-05-29 2019-08-14 107075289 ENSG00000248654 OTTHUMG00000160338 NG_046486 PGOHUM00000299785 HGNC:52147 +HGNC:52148 MTCO3P45 MT-CO3 pseudogene 45 pseudogene pseudogene Approved 2q11.1 02q11.1 mitochondrially encoded cytochrome c oxidase III pseudogene 45 2015-10-23 2018-05-29 2020-04-06 107075218 ENSG00000232128 OTTHUMG00000155133 NG_046487 PGOHUM00000298555 HGNC:52148 +HGNC:52165 MTCO3P46 MT-CO3 pseudogene 46 pseudogene pseudogene Approved 1q42.3 01q42.3 mitochondrially encoded cytochrome c oxidase III pseudogene 46 2015-10-26 2018-05-29 2020-04-06 107075293 ENSG00000235761 OTTHUMG00000040741 NG_046488 PGOHUM00000296109 HGNC:52165 +HGNC:7423 MTCP1 mature T cell proliferation 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "P13MTCP1|p8MTCP1|TCL1C" TCL1 family AKT coactivator C mature T-cell proliferation 1 1994-12-14 2017-12-06 2020-04-30 4515 ENSG00000214827 OTTHUMG00000156241 uc065cjp.1 NM_001018025 CCDS44027 P56278 "8361760|8634440|9691281" MGI:102699 RGD:1561352 MTCP1 300116 HGNC:7423 "ENST00000369476.8|NM_001018025.4" +HGNC:38729 MTCYBP1 MT-CYB pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 "MTCYB pseudogene 1|mitochondrially encoded cytochrome b pseudogene 1" 2010-07-28 2018-05-29 2018-05-29 100499418 ENSG00000234179 OTTHUMG00000041271 NG_023458 PGOHUM00000305624 HGNC:38729 +HGNC:38807 MTCYBP2 MT-CYB pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 "MTCYB pseudogene 2|mitochondrially encoded cytochrome b pseudogene 2" 2010-08-05 2018-05-29 2018-05-29 100873168 ENSG00000217179 OTTHUMG00000036510 NG_032220 HGNC:38807 +HGNC:39579 MTCYBP3 MT-CYB pseudogene 3 pseudogene pseudogene Approved 13q32.1 13q32.1 "MTCYB pseudogene 3|mitochondrially encoded cytochrome b pseudogene 3" 2011-03-15 2018-05-29 2018-05-29 100873204 ENSG00000232373 OTTHUMG00000017221 NG_032321 PGOHUM00000292225 HGNC:39579 +HGNC:41923 MTCYBP4 MT-CYB pseudogene 4 pseudogene pseudogene Approved 6q23.2 06q23.2 mitochondrially encoded cytochrome b pseudogene 4 2011-05-19 2018-05-29 2018-05-29 100873169 ENSG00000220113 OTTHUMG00000015598 NG_032377 PGOHUM00000301953 HGNC:41923 +HGNC:51967 MTCYBP5 MT-CYB pseudogene 5 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded cytochrome b pseudogene 5 2015-10-13 2018-05-29 2018-05-29 107075125 ENSG00000234671 OTTHUMG00000156684 NG_046508 PGOHUM00000302678 HGNC:51967 +HGNC:51974 MTCYBP6 MT-CYB pseudogene 6 pseudogene pseudogene Approved 7q31.2 07q31.2 mitochondrially encoded cytochrome b pseudogene 6 2015-10-13 2018-05-29 2018-05-29 107075259 ENSG00000230605 OTTHUMG00000119095 NG_068458 +HGNC:51964 MTCYBP7 MT-CYB pseudogene 7 pseudogene pseudogene Approved 2p12 02p12 mitochondrially encoded cytochrome b pseudogene 7 2015-10-13 2018-05-29 2020-04-06 107075257 ENSG00000227789 OTTHUMG00000152962 NG_046509 PGOHUM00000298486 HGNC:51964 +HGNC:51965 MTCYBP8 MT-CYB pseudogene 8 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded cytochrome b pseudogene 8 2015-10-13 2018-05-29 2020-04-06 107075220 ENSG00000233550 OTTHUMG00000153774 NG_046510 PGOHUM00000298702 HGNC:51965 +HGNC:51966 MTCYBP9 MT-CYB pseudogene 9 pseudogene pseudogene Approved 2q24.1 02q24.1 mitochondrially encoded cytochrome b pseudogene 9 2015-10-13 2018-05-29 2020-04-06 107075124 ENSG00000229935 OTTHUMG00000153815 NG_046511 PGOHUM00000298765 HGNC:51966 +HGNC:51961 MTCYBP10 MT-CYB pseudogene 10 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded cytochrome b pseudogene 10 2015-10-13 2018-05-29 2020-04-06 107075121 ENSG00000233285 OTTHUMG00000153601 NG_046492 PGOHUM00000298129 HGNC:51961 +HGNC:51962 MTCYBP11 MT-CYB pseudogene 11 pseudogene pseudogene Approved 2q22.2 02q22.2 mitochondrially encoded cytochrome b pseudogene 11 2015-10-13 2018-05-29 2020-04-06 107075122 ENSG00000224288 OTTHUMG00000153818 NG_046493 PGOHUM00000298174 HGNC:51962 +HGNC:51963 MTCYBP12 MT-CYB pseudogene 12 pseudogene pseudogene Approved Xp22.32 Xp22.32 mitochondrially encoded cytochrome b pseudogene 12 2015-10-13 2018-05-29 2020-04-06 107075123 ENSG00000226313 OTTHUMG00000021090 NG_046494 PGOHUM00000304933 HGNC:51963 +HGNC:51975 MTCYBP13 MT-CYB pseudogene 13 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded cytochrome b pseudogene 13 2015-10-13 2018-05-29 2020-04-06 107075129 ENSG00000266529 OTTHUMG00000179067 NG_046495 PGOHUM00000294347 HGNC:51975 +HGNC:51960 MTCYBP14 MT-CYB pseudogene 14 pseudogene pseudogene Approved 1q42.3 01q42.3 mitochondrially encoded cytochrome b pseudogene 14 2015-10-13 2018-05-29 2020-04-06 107075120 ENSG00000238236 OTTHUMG00000040469 NG_046496 PGOHUM00000296819 HGNC:51960 +HGNC:51968 MTCYBP15 MT-CYB pseudogene 15 pseudogene pseudogene Approved 1q43 01q43 mitochondrially encoded cytochrome b pseudogene 15 2015-10-13 2018-05-29 2020-04-06 107075258 ENSG00000232154 OTTHUMG00000039591 NG_046497 PGOHUM00000296115 HGNC:51968 +HGNC:51969 MTCYBP16 MT-CYB pseudogene 16 pseudogene pseudogene Approved 4q13.1 04q13.1 mitochondrially encoded cytochrome b pseudogene 16 2015-10-13 2018-05-29 2020-04-06 107075126 ENSG00000251385 OTTHUMG00000162338 NG_046498 PGOHUM00000299844 HGNC:51969 +HGNC:51970 MTCYBP17 MT-CYB pseudogene 17 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded cytochrome b pseudogene 17 2015-10-13 2018-05-29 2020-04-06 107075213 ENSG00000249247 OTTHUMG00000161820 NG_046499 PGOHUM00000300039 HGNC:51970 +HGNC:51976 MTCYBP18 MT-CYB pseudogene 18 pseudogene pseudogene Approved 5q31.1 05q31.1 mitochondrially encoded cytochrome b pseudogene 18 2015-10-13 2018-05-29 2020-04-06 107075130 ENSG00000244921 OTTHUMG00000163073 NG_046500 PGOHUM00000300762 HGNC:51976 +HGNC:51971 MTCYBP19 MT-CYB pseudogene 19 pseudogene pseudogene Approved 8p12 08p12 mitochondrially encoded cytochrome b pseudogene 19 2015-10-13 2018-05-29 2020-04-06 107075127 ENSG00000253504 OTTHUMG00000163974 NG_046501 PGOHUM00000303158 HGNC:51971 +HGNC:51973 MTCYBP20 MT-CYB pseudogene 20 pseudogene pseudogene Approved 8q11.1 08q11.1 mitochondrially encoded cytochrome b pseudogene 20 2015-10-13 2018-05-29 2020-04-06 107075128 ENSG00000254118 OTTHUMG00000164133 NG_046502 PGOHUM00000303185 HGNC:51973 +HGNC:51977 MTCYBP21 MT-CYB pseudogene 21 pseudogene pseudogene Approved 21q22.3 21q22.3 mitochondrially encoded cytochrome b pseudogene 21 2015-10-13 2018-05-29 2020-04-06 107075260 ENSG00000224747 OTTHUMG00000040846 NG_046503 PGOHUM00000297273 HGNC:51977 +HGNC:51979 MTCYBP22 MT-CYB pseudogene 22 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded cytochrome b pseudogene 22 2015-10-13 2018-05-29 2020-04-06 107075221 ENSG00000270232 OTTHUMG00000185126 NG_046504 PGOHUM00000300689 HGNC:51979 +HGNC:51980 MTCYBP23 MT-CYB pseudogene 23 pseudogene pseudogene Approved 15q21.3 15q21.3 mitochondrially encoded cytochrome b pseudogene 23 2015-10-13 2018-05-29 2018-05-29 107075131 ENSG00000259671 OTTHUMG00000171999 NG_011975 PGOHUM00000293254 +HGNC:51983 MTCYBP24 MT-CYB pseudogene 24 pseudogene pseudogene Approved 7q31.1 07q31.1 mitochondrially encoded cytochrome b pseudogene 24 2015-10-13 2018-05-29 2020-04-06 107075132 ENSG00000236232 OTTHUMG00000155120 NG_046505 PGOHUM00000302898 HGNC:51983 +HGNC:51991 MTCYBP25 MT-CYB pseudogene 25 pseudogene pseudogene Approved 11q14.1 11q14.1 mitochondrially encoded cytochrome b pseudogene 25 2015-10-13 2018-05-29 2020-04-06 107403064 NG_046784 PGOHUM00000291056 HGNC:51991 +HGNC:51992 MTCYBP26 MT-CYB pseudogene 26 pseudogene pseudogene Approved 12p11.21 12p11.21 mitochondrially encoded cytochrome b pseudogene 26 2015-10-13 2018-05-29 2020-04-06 107403065 NG_046785 PGOHUM00000291603 HGNC:51992 +HGNC:51993 MTCYBP27 MT-CYB pseudogene 27 pseudogene pseudogene Approved 14q31.2 14q31.2 mitochondrially encoded cytochrome b pseudogene 27 2015-10-13 2018-05-29 2020-04-06 107075133 ENSG00000259012 OTTHUMG00000171377 NG_051959 PGOHUM00000292743 HGNC:51993 +HGNC:51994 MTCYBP28 MT-CYB pseudogene 28 pseudogene pseudogene Approved 16q23.3 16q23.3 mitochondrially encoded cytochrome b pseudogene 28 2015-10-13 2018-05-29 2020-04-06 107075134 ENSG00000260161 OTTHUMG00000176576 NG_046506 PGOHUM00000293670 HGNC:51994 +HGNC:51995 MTCYBP29 MT-CYB pseudogene 29 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded cytochrome b pseudogene 29 2015-10-13 2018-05-29 2018-05-31 107075135 ENSG00000224880 OTTHUMG00000156688 NG_046507 PGOHUM00000302668 HGNC:51995 +HGNC:51996 MTCYBP30 MT-CYB pseudogene 30 pseudogene pseudogene Approved 8q13.2 08q13.2 mitochondrially encoded cytochrome b pseudogene 30 2015-10-13 2018-05-29 2020-04-06 107403066 NG_046786 PGOHUM00000303234 HGNC:51996 +HGNC:51997 MTCYBP31 MT-CYB pseudogene 31 pseudogene pseudogene Approved Xq13.1 Xq13.1 mitochondrially encoded cytochrome b pseudogene 31 2015-10-13 2018-05-29 2018-05-29 107075136 ENSG00000226579 OTTHUMG00000021761 NG_068433 PGOHUM00000304683 +HGNC:52174 MTCYBP32 MT-CYB pseudogene 32 pseudogene pseudogene Approved Xq22.1 Xq22.1 mitochondrially encoded cytochrome b pseudogene 32 2015-10-28 2018-05-29 2020-04-06 107075231 ENSG00000229794 OTTHUMG00000022066 NG_051998 PGOHUM00000305229 HGNC:52174 +HGNC:52301 MTCYBP33 MT-CYB pseudogene 33 pseudogene pseudogene Approved 16p13.13 16p13.13 mitochondrially encoded cytochrome b pseudogene 33 2016-07-22 2018-05-29 2020-04-06 109729143 ENSG00000263241 OTTHUMG00000177344 NG_052924 PGOHUM00000293414 HGNC:52301 +HGNC:52302 MTCYBP34 MT-CYB pseudogene 34 pseudogene pseudogene Approved 22q12.3 22q12.3 mitochondrially encoded cytochrome b pseudogene 34 2016-07-22 2018-05-29 2020-04-06 109729115 ENSG00000237129 OTTHUMG00000150638 NG_052925 PGOHUM00000297758 HGNC:52302 +HGNC:52303 MTCYBP35 MT-CYB pseudogene 35 pseudogene pseudogene Approved 5q15 05q15 mitochondrially encoded cytochrome b pseudogene 35 2016-07-22 2018-05-29 2020-04-06 109729150 ENSG00000251340 OTTHUMG00000162662 NG_052926 PGOHUM00000301056 HGNC:52303 +HGNC:52304 MTCYBP36 MT-CYB pseudogene 36 pseudogene pseudogene Approved 6q16.1 06q16.1 mitochondrially encoded cytochrome b pseudogene 36 2016-07-22 2018-05-29 2020-04-06 109729116 ENSG00000216853 OTTHUMG00000015231 NG_052927 PGOHUM00000301478 HGNC:52304 +HGNC:52305 MTCYBP37 MT-CYB pseudogene 37 pseudogene pseudogene Approved 5p15.31 05p15.31 mitochondrially encoded cytochrome b pseudogene 37 2016-07-22 2018-05-29 2020-04-06 109729151 ENSG00000248765 OTTHUMG00000161721 NG_052928 PGOHUM00000300866 HGNC:52305 +HGNC:52306 MTCYBP38 MT-CYB pseudogene 38 pseudogene pseudogene Approved Xq25 Xq25 mitochondrially encoded cytochrome b pseudogene 38 2016-07-22 2018-05-29 2020-04-06 109729117 ENSG00000226414 OTTHUMG00000022354 NG_052929 PGOHUM00000305306 HGNC:52306 +HGNC:52307 MTCYBP39 MT-CYB pseudogene 39 pseudogene pseudogene Approved 2q14.1 02q14.1 mitochondrially encoded cytochrome b pseudogene 39 2016-07-22 2018-05-29 2020-04-06 109729152 ENSG00000226341 OTTHUMG00000153306 NG_052930 PGOHUM00000298654 HGNC:52307 +HGNC:52308 MTCYBP40 MT-CYB pseudogene 40 pseudogene pseudogene Approved 5q15 05q15 mitochondrially encoded cytochrome b pseudogene 40 2016-07-22 2018-05-29 2020-04-06 109729144 ENSG00000248931 OTTHUMG00000162798 NG_052931 PGOHUM00000300680 HGNC:52308 +HGNC:52309 MTCYBP41 MT-CYB pseudogene 41 pseudogene pseudogene Approved 11q14.2 11q14.2 mitochondrially encoded cytochrome b pseudogene 41 2016-07-22 2018-05-29 2020-04-06 109729118 ENSG00000254650 OTTHUMG00000167257 NG_052932 PGOHUM00000290626 HGNC:52309 +HGNC:52310 MTCYBP42 MT-CYB pseudogene 42 pseudogene pseudogene Approved 7p15.3 07p15.3 mitochondrially encoded cytochrome b pseudogene 42 2016-07-22 2018-05-29 2020-04-06 109729153 ENSG00000228803 OTTHUMG00000152545 NG_052933 PGOHUM00000302066 HGNC:52310 +HGNC:52311 MTCYBP43 MT-CYB pseudogene 43 pseudogene pseudogene Approved 4p15.1 04p15.1 mitochondrially encoded cytochrome b pseudogene 43 2016-07-22 2018-05-29 2020-04-06 109729119 ENSG00000250624 OTTHUMG00000160366 NG_052934 PGOHUM00000299793 HGNC:52311 +HGNC:52312 MTCYBP44 MT-CYB pseudogene 44 pseudogene pseudogene Approved 4q21.22 04q21.22 mitochondrially encoded cytochrome b pseudogene 44 2016-07-22 2018-05-29 2020-04-06 109729154 ENSG00000248282 OTTHUMG00000160938 NG_052935 PGOHUM00000299909 HGNC:52312 +HGNC:52313 MTCYBP45 MT-CYB pseudogene 45 pseudogene pseudogene Approved 1p36.22 01p36.22 mitochondrially encoded cytochrome b pseudogene 45 2016-07-22 2018-05-29 2020-04-06 109729120 ENSG00000224338 OTTHUMG00000002073 NG_052936 PGOHUM00000295544 HGNC:52313 +HGNC:29608 MTDH metadherin protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "LYRIC|3D3|AEG-1" astrocyte elevated gene 1 2005-07-18 2014-11-19 92140 ENSG00000147649 OTTHUMG00000164692 uc003yhz.4 AF411226 NM_001363136 CCDS6274 Q86UE4 15093543 MGI:1914404 RGD:620992 610323 HGNC:29608 "ENST00000336273.8|NM_178812.4" +HGNC:52357 MTDHP1 metadherin pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2016-07-28 2016-07-28 100418814 ENSG00000270948 OTTHUMG00000184712 NG_026479 PGOHUM00000302257 HGNC:52357 +HGNC:52358 MTDHP2 metadherin pseudogene 2 pseudogene pseudogene Approved 19p12 19p12 2016-07-28 2016-07-28 100418835 ENSG00000269615 OTTHUMG00000182900 NG_024246 HGNC:52358 +HGNC:52359 MTDHP3 metadherin pseudogene 3 pseudogene pseudogene Approved 19p12 19p12 2016-07-28 2016-07-28 100418832 ENSG00000268433 OTTHUMG00000182869 NG_024168 PGOHUM00000294941 HGNC:52359 +HGNC:52360 MTDHP4 metadherin pseudogene 4 pseudogene pseudogene Approved 19p12 19p12 2016-07-28 2016-07-28 100418834 ENSG00000268535 OTTHUMG00000182870 NG_024244 PGOHUM00000295284 HGNC:52360 +HGNC:52361 MTDHP5 metadherin pseudogene 5 pseudogene pseudogene Approved 19p12 19p12 2016-07-28 2016-07-28 100418836 ENSG00000269575 OTTHUMG00000182932 NG_024248 PGOHUM00000295291 HGNC:52361 +HGNC:21463 MTERF1 mitochondrial transcription termination factor 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 MTERF mitochondrial transcription termination factor 2005-06-27 2014-06-26 2014-06-26 2014-11-19 7978 ENSG00000127989 OTTHUMG00000156057 Y09615 NM_006980 "CCDS5621|CCDS75629" Q99551 "15899902|14744862|7681833" MGI:1340032 RGD:621318 602318 HGNC:21463 "ENST00000351870.8|NM_006980.5" +HGNC:30779 MTERF2 mitochondrial transcription termination factor 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 FLJ14062 MTERFD3 MTERF domain containing 3 2005-06-28 2014-06-26 2014-06-26 2016-11-16 80298 ENSG00000120832 OTTHUMG00000170007 NM_025198 CCDS9111 Q49AM1 "16193327|19366608" MGI:1921488 RGD:1311836 616929 HGNC:30779 "ENST00000240050.9|NM_001033050.3" +HGNC:24258 MTERF3 mitochondrial transcription termination factor 3 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "CGI-12|FLJ10939" MTERFD1 MTERF domain containing 1 2005-06-28 2014-06-26 2014-06-26 2014-11-19 51001 ENSG00000156469 OTTHUMG00000164713 NM_015942 "CCDS6270|CCDS75772" Q96E29 "10810093|16193327|17662942" MGI:1913660 RGD:735158 616930 HGNC:24258 "ENST00000287025.4|NM_015942.5" +HGNC:28785 MTERF4 mitochondrial transcription termination factor 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 MGC61716 MTERFD2 MTERF domain containing 2 2005-06-28 2014-06-26 2014-06-26 2014-11-19 130916 ENSG00000122085 OTTHUMG00000133393 NM_182501 "CCDS82584|CCDS2544" Q7Z6M4 "16193327|21531335" MGI:1918355 RGD:1562440 615393 HGNC:28785 "ENST00000391980.7|NM_182501.4" +HGNC:7428 MTF1 metal regulatory transcription factor 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 1994-11-01 2016-07-01 2021-05-26 4520 ENSG00000188786 OTTHUMG00000004439 uc001cce.1 BC014454 NM_005955 CCDS30676 Q14872 8065932 MGI:101786 RGD:1308956 600172 HGNC:7428 "ENST00000373036.5|NM_005955.3" HGNC:7428 +HGNC:29535 MTF2 metal response element binding transcription factor 2 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "M96|PCL2|TDRD19A" "polycomb-like 2|tudor domain containing 19A" "PHD finger proteins|Tudor domain containing" "88|780" 2005-05-24 2015-09-04 22823 ENSG00000143033 OTTHUMG00000010161 uc009wdj.4 AJ010014 NM_007358 "CCDS53341|CCDS742|CCDS53340" Q9Y483 15563832 MGI:105050 RGD:1304727 609882 HGNC:29535 "ENST00000370298.9|NM_007358.4" +HGNC:29666 MTFMT mitochondrial methionyl-tRNA formyltransferase protein-coding gene gene with protein product Approved 15q22.31 15q22.31 FMT1 2005-07-19 2005-08-09 2021-05-26 123263 ENSG00000103707 OTTHUMG00000172371 uc002aof.5 AK055688 NM_139242 CCDS45280 Q96DP5 9614118 MGI:1916856 RGD:1309462 611766 299657 2.1.2.9 HGNC:29666 "ENST00000220058.9|NM_139242.4" HGNC:29666 +HGNC:26945 MTFP1 mitochondrial fission process 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "MTP18|HSPC242" 2010-09-02 2016-10-05 51537 ENSG00000242114 OTTHUMG00000151057 uc003ahw.3 AF151076 NM_016498 "CCDS33634|CCDS33635" Q9UDX5 "15155745|15985469" MGI:1916686 RGD:1359705 610235 HGNC:26945 "ENST00000266263.10|NM_016498.5" +HGNC:29510 MTFR1 mitochondrial fission regulator 1 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "CHPPR|KIAA0009|FAM54A2" likely ortholog of chicken chondrocyte protein with a poly proline region 2005-08-02 2016-11-01 9650 ENSG00000066855 OTTHUMG00000164468 uc003xvm.3 NM_014637 "CCDS6182|CCDS55240" Q15390 "7584026|7584028|15389597" MGI:1914722 RGD:1304936 619414 HGNC:29510 "ENST00000262146.9|NM_014637.4" +HGNC:28836 MTFR1L mitochondrial fission regulator 1 like protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FAM54B "family with sequence similarity 54, member B|mitochondrial fission regulator 1-like" 2005-05-24 2012-11-29 2016-03-08 2016-03-08 56181 ENSG00000117640 OTTHUMG00000007377 uc001bkq.5 NM_019557 "CCDS41284|CCDS44089" Q9H019 "8619474|9110174" MGI:1924074 RGD:1305453 HGNC:28836 "ENST00000374303.7|NM_001099625.2" +HGNC:54981 MTFR1P1 MTFR1 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 2020-05-14 2020-05-14 100128171 ENSG00000231356 NG_011583 +HGNC:21115 MTFR2 mitochondrial fission regulator 2 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "DUFD1|FAM54A" "DUF729 domain containing 1|family with sequence similarity 54, member A" 2003-05-20 2012-11-29 2012-11-29 2016-10-05 113115 ENSG00000146410 OTTHUMG00000015643 uc003qgt.2 BC011716 NM_138419 CCDS5176 Q6P444 MGI:1919054 RGD:6494892 HGNC:21115 "ENST00000420702.6|NM_001099286.3" +HGNC:54773 MTFR2P1 MTFR2 pseudogene 1 pseudogene pseudogene Approved 2p15 02p15 2020-01-08 2020-01-08 100421472 ENSG00000233716 NG_023562 +HGNC:54774 MTFR2P2 MTFR2 pseudogene 2 pseudogene pseudogene Approved 22q13.1 22q13.1 MTFR2P1 2020-01-08 2020-01-08 2020-01-08 2020-01-08 100132621 ENSG00000235647 NG_022879 +HGNC:32159 MTG1 mitochondrial ribosome associated GTPase 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 GTPBP7 "GTP-binding protein 7|GTP-binding protein 7 (putative)|mitochondrial GTPase 1 homolog (S. cerevisiae)|mitochondrial ribosome-associated GTPase 1" 2005-08-15 2006-01-09 2016-04-05 2016-04-05 92170 ENSG00000148824 OTTHUMG00000166564 uc001lnd.4 NM_138384 CCDS31320 Q9BT17 "12808030|23396448" MGI:2685015 RGD:6497155 HGNC:32159 "ENST00000317502.11|NM_138384.4" +HGNC:16239 MTG2 mitochondrial ribosome associated GTPase 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ10741|dJ1005F21.2|ObgH1" GTPBP5 "GTP-binding protein 5 (putative)|GTP binding protein 5 (putative)|mitochondrial ribosome-associated GTPase 2" 2001-07-17 2013-05-24 2016-04-05 2016-04-05 26164 ENSG00000101181 OTTHUMG00000032897 AK001603 NM_015666 CCDS13492 Q9H4K7 "17054726|23396448" MGI:106565 RGD:1359243 610919 HGNC:16239 "ENST00000370823.8|NM_015666.4" +HGNC:7432 MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "MTHFC|MTHFD" methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase Minor histocompatibility antigens 870 1999-07-23 2016-05-03 2021-05-26 4522 ENSG00000100714 OTTHUMG00000141309 uc001xhb.4 J04031 NM_001364837 CCDS9763 P11586 "3053686|2786332" MGI:1342005 RGD:708531 LRG_1243|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1243.xml 172460 138561 "1.5.1.5|3.5.4.9|6.3.4.3" HGNC:7432 "ENST00000652337.1|NM_005956.4" +HGNC:21055 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "DKFZP586G1517|FLJ21145" "10-formyl-THF synthetase|mitochondrial C1-tetrahydrofolate synthase|monofunctional C1-tetrahydrofolate synthase, mitochondrial" FTHFSDC1 formyltetrahydrofolate synthetase domain containing 1 2003-05-27 2004-12-14 2017-06-13 2017-06-13 25902 ENSG00000120254 OTTHUMG00000015828 uc003qob.4 BC017477 NM_015440 "CCDS75536|CCDS5228|CCDS75535|CCDS56457" Q6UB35 18804703 MGI:1924836 RGD:1307311 611427 470696 6.3.4.3 HGNC:21055 "ENST00000367321.8|NM_015440.5" +HGNC:7433 MTHFD1P1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 "MTHFDL1|MTHFDP1" 1999-07-23 2012-02-29 4523 ENSG00000231831 OTTHUMG00000021683 S57009 NG_013232 1916813 PGOHUM00000261943 HGNC:7433 +HGNC:7434 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase protein-coding gene gene with protein product Approved 2p13.1 02p13.1 1999-07-23 2015-09-04 10797 ENSG00000065911 OTTHUMG00000129814 uc002skk.4 X16396 NM_006636 CCDS1935 P13995 "2587219|8218174" MGI:1338850 RGD:1311313 604887 HGNC:7434 "ENST00000394053.7|NM_006636.4" +HGNC:31865 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like protein-coding gene gene with protein product Approved 4q13.3 04q13.3 MGC72244 2004-12-13 2017-06-13 2017-06-13 441024 ENSG00000163738 OTTHUMG00000157135 uc011cbk.3 BC065771 NM_001004346 "CCDS47075|CCDS34009" Q9H903 21163947 MGI:1915871 RGD:1310879 614047 HGNC:31865 "ENST00000325278.7|NM_001144978.3" +HGNC:48859 MTHFD2P1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1 pseudogene pseudogene Approved 3q11.2 03q11.2 2013-06-19 2013-06-19 100287639 ENSG00000244681 OTTHUMG00000159027 NR_077228 PGOHUM00000237687 HGNC:48859 +HGNC:48860 MTHFD2P2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 2 pseudogene pseudogene Approved 6q14.3 06q14.3 2013-06-19 2013-06-19 106480237 ENSG00000217169 OTTHUMG00000015158 NG_043785 PGOHUM00000243280 HGNC:48860 +HGNC:48866 MTHFD2P3 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 3 pseudogene pseudogene Approved 6q21 06q21 2013-06-19 2013-06-19 106481665 ENSG00000231112 OTTHUMG00000015315 NG_042914 PGOHUM00000243315 HGNC:48866 +HGNC:48862 MTHFD2P4 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 4 pseudogene pseudogene Approved 4q32.2 04q32.2 2013-06-19 2013-06-19 100131135 ENSG00000251253 OTTHUMG00000161389 NG_022088 PGOHUM00000259960 HGNC:48862 +HGNC:48863 MTHFD2P5 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 5 pseudogene pseudogene Approved 7q21.11 07q21.11 2013-06-19 2013-06-19 442707 ENSG00000213530 OTTHUMG00000154816 NG_005547 PGOHUM00000232904 HGNC:48863 +HGNC:48864 MTHFD2P6 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 6 pseudogene pseudogene Approved 5p13.1 05p13.1 2013-06-19 2013-06-19 100130042 ENSG00000249266 OTTHUMG00000162085 NG_021846 PGOHUM00000235204 HGNC:48864 +HGNC:48865 MTHFD2P7 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 7 pseudogene pseudogene Approved 3q26.33 03q26.33 2013-06-19 2013-06-19 442098 ENSG00000181260 OTTHUMG00000157481 NG_022282 PGOHUM00000238276 HGNC:48865 +HGNC:7436 MTHFR methylenetetrahydrofolate reductase protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "5,10-methylenetetrahydrofolate reductase (NADPH)|methylenetetrahydrofolate reductase (NAD(P)H)" 1994-07-15 2016-08-10 2021-05-26 4524 ENSG00000177000 OTTHUMG00000002277 uc001atc.3 BC053509 NM_005957 "CCDS81262|CCDS137" P42898 7920641 MGI:106639 RGD:1309952 LRG_726|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_726.xml 607093 123529 1.5.1.20 HGNC:7436 "ENST00000376590.9|NM_005957.5" HGNC:7436 +HGNC:7437 MTHFS methenyltetrahydrofolate synthetase protein-coding gene gene with protein product Approved 15q25.1 15q25.1 HsT19268 "5,10-methenyltetrahydrofolate synthetase|5-formyltetrahydrofolate cyclo-ligase" 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 1999-07-09 2017-01-03 2017-01-03 10588 ENSG00000136371 OTTHUMG00000144174 uc002bex.5 L38928 NM_006441 CCDS10311 P49914 8522195 MGI:1340032 RGD:1306876 604197 470698 6.3.3.2 HGNC:7437 "ENST00000258874.4|NM_006441.4" +HGNC:25778 MTHFSD methenyltetrahydrofolate synthetase domain containing protein-coding gene gene with protein product Approved 16q24.1 16q24.1 FLJ12998 RNA binding motif containing 725 2006-04-07 2020-04-01 64779 ENSG00000103248 OTTHUMG00000176480 uc010vor.3 AK023060 NM_022764 "CCDS54047|CCDS42211|CCDS58490|CCDS54048" Q2M296 26525917 MGI:2679252 RGD:1584226 616820 HGNC:25778 "ENST00000360900.11|NM_001159377.2" +HGNC:7441 MTIF2 mitochondrial translational initiation factor 2 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 IF-2mt 1998-06-25 2014-11-19 4528 ENSG00000085760 OTTHUMG00000129338 uc061jgd.1 L34600 NM_002453 CCDS1853 P46199 "9925935|7829522" MGI:1924034 RGD:1303046 603766 HGNC:7441 "ENST00000263629.9|NM_002453.3" +HGNC:14861 MTIF2P1 mitochondrial translational initiation factor 2 pseudogene 1 pseudogene pseudogene Approved 1p11.2 01p11.2 2001-03-14 2018-11-21 80713 ENSG00000233432 OTTHUMG00000013090 AY091592 NG_002684 12932832 PGOHUM00000296504 HGNC:14861 +HGNC:29788 MTIF3 mitochondrial translational initiation factor 3 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "IF-3mt|IF3(mt)" 2006-11-03 2014-11-19 219402 ENSG00000122033 OTTHUMG00000016633 uc001urj.4 BC046166 NM_152912 CCDS9322 Q9H2K0 12095986 MGI:1923616 RGD:1592673 619554 HGNC:29788 "ENST00000381120.8|NM_152912.5" +HGNC:7444 MTL3P metallothionein-like 3, pseudogene pseudogene pseudogene Approved 18q22.1 18q22.1 MTL3 metallothionein-like 3 2001-06-22 2010-10-21 2010-10-21 2020-04-07 4531 ENSG00000264697 OTTHUMG00000178550 NG_032177 HGNC:7444 +HGNC:27339 MTLN mitoregulin protein-coding gene gene with protein product Approved 2q13 02q13 "MOXI|LEMP|MPM" "micropeptide regulator of β-oxidation|lncRNA encoded micropeptide|micropeptide in mitochondria" "NCRNA00116|LINC00116|SMIM37" "non-protein coding RNA 116|long intergenic non-protein coding RNA 116|small integral membrane protein 37" 2008-09-12 2018-06-14 2018-06-14 2020-06-15 205251 ENSG00000175701 OTTHUMG00000131194 uc002tfq.3 BC031315 NM_001355251 Q8NCU8 "29949756|29949755" MGI:1915135 RGD:10401149 HGNC:27339 "ENST00000611969.5|NM_001384134.1" +HGNC:7448 MTM1 myotubularin 1 protein-coding gene gene with protein product Approved Xq28 Xq28 myotubular myopathy 1 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 2001-06-22 2021-05-26 4534 ENSG00000171100 OTTHUMG00000024158 uc004fef.5 U46024 NM_000252 CCDS14694 Q13496 MGI:1099452 RGD:1304582 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=MTM1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MTM1|LRG_839|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_839.xml" 300415 123531 3.1.3.64 HGNC:7448 "ENST00000370396.7|NM_000252.3" HGNC:7448 +HGNC:7449 MTMR1 myotubularin related protein 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 1998-12-16 2020-04-02 8776 ENSG00000063601 OTTHUMG00000024159 uc004fei.4 U58032 "NM_003828|NM_176789" "CCDS78512|CCDS14695|CCDS78513" Q13613 9828128 MGI:1858271 RGD:1306569 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MTMR1 300171 HGNC:7449 "ENST00000445323.7|NM_001306144.3" +HGNC:7450 MTMR2 myotubularin related protein 2 protein-coding gene gene with protein product Approved 11q21 11q21 KIAA1073 "phosphatidylinositol-3-phosphatase|phosphoinositide-3-phosphatase" CMT4B "Myotubularins|Phosphoinositide phosphatases" "903|1079" 1999-02-05 2021-05-26 8898 ENSG00000087053 OTTHUMG00000153837 uc001pfu.4 U58033 NM_016156 "CCDS8306|CCDS8305" Q13614 "8640223|9736772" MGI:1924366 RGD:1311865 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_257|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_257.xml" 603557 123533 3.1.3.64 HGNC:7450 "ENST00000346299.10|NM_016156.6" HGNC:7450 +HGNC:7451 MTMR3 myotubularin related protein 3 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "KIAA0371|ZFYVE10|FYVE-DSP1" "Zinc fingers FYVE-type|Myotubularins|Phosphoinositide phosphatases|MicroRNA protein coding host genes" "81|903|1079|1691" 1999-02-05 2014-11-19 8897 ENSG00000100330 OTTHUMG00000151278 uc003agv.5 U58034 NM_021090 "CCDS46682|CCDS13871|CCDS13870" Q13615 "8640223|9736772" MGI:1921552 RGD:1310972 603558 HGNC:7451 "ENST00000401950.7|NM_021090.4" +HGNC:7452 MTMR4 myotubularin related protein 4 protein-coding gene gene with protein product Approved 17q22 17q22 "KIAA0647|ZFYVE11" "Zinc fingers FYVE-type|Myotubularins|Phosphoinositide phosphatases" "81|903|1079" 1999-02-05 2020-04-01 9110 ENSG00000108389 OTTHUMG00000179079 uc002iwj.3 AB014547 NM_004687 CCDS11608 Q9NYA4 9736772 MGI:2180699 RGD:1310306 603559 HGNC:7452 "ENST00000682306.1|NM_001378067.1" +HGNC:7453 MTMR6 myotubularin related protein 6 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 1999-02-05 2016-10-05 9107 ENSG00000139505 OTTHUMG00000016606 uc001uqf.6 AF072928 NM_004685 CCDS9313 Q9Y217 9736772 MGI:2145637 RGD:1305378 603561 HGNC:7453 "ENST00000381801.6|NM_004685.5" +HGNC:7454 MTMR7 myotubularin related protein 7 protein-coding gene gene with protein product Approved 8p22 08p22 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 1999-02-05 2014-11-19 9108 ENSG00000003987 OTTHUMG00000163771 uc003wxm.4 AF073482 NM_004686 CCDS34851 Q9Y216 "9736772|12890864" MGI:1891693 RGD:1306608 603562 HGNC:7454 "ENST00000180173.10|NM_004686.5" +HGNC:16825 MTMR8 myotubularin related protein 8 protein-coding gene gene with protein product Approved Xq11.2 Xq11.2 FLJ20126 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 2002-09-05 2020-04-02 55613 ENSG00000102043 OTTHUMG00000021707 uc004dvs.4 AK000133 NM_017677 CCDS14379 Q96EF0 11275328 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MTMR8 301061 HGNC:16825 "ENST00000374852.4|NM_017677.4" +HGNC:14596 MTMR9 myotubularin related protein 9 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "DKFZp434K171|LIP-STYX" "C8orf9|MTMR8" myotubularin related protein 8 Myotubularins 903 2001-02-14 2002-09-06 2002-09-05 2016-10-05 66036 ENSG00000104643 OTTHUMG00000090647 uc003wtm.4 AJ297823 NM_015458 CCDS5979 Q96QG7 "11472061|11896452|12890864" MGI:2442842 RGD:628840 606260 HGNC:14596 "ENST00000221086.8|NM_015458.4" +HGNC:27920 MTMR9LP myotubularin related protein 9 like, pseudogene pseudogene pseudogene Approved 1p35.2 01p35.2 MTMR9L myotubularin related protein 9-like 2009-07-09 2010-10-28 2019-02-18 2019-02-18 339483 ENSG00000220785 OTTHUMG00000007461 NR_026850 12477932 HGNC:27920 +HGNC:25999 MTMR10 myotubularin related protein 10 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 FLJ20313 Myotubularins 903 2005-04-07 2019-08-20 54893 ENSG00000166912 OTTHUMG00000175662 uc001zfh.1 AK000320 NM_017762 CCDS45204 Q9NXD2 12495846 MGI:2142292 RGD:1305958 HGNC:25999 "ENST00000435680.6|NM_017762.3" +HGNC:24307 MTMR11 myotubularin related protein 11 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 CRA cisplatin resistance associated Myotubularins 903 2005-04-07 2014-12-02 10903 ENSG00000014914 OTTHUMG00000012207 uc001etl.5 AK097000 NM_181873 "CCDS72902|CCDS72901" A4FU01 12495846 MGI:2652817 RGD:1589965 HGNC:24307 "ENST00000439741.4|NM_001145862.2" +HGNC:18191 MTMR12 myotubularin related protein 12 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "3-PAP|FLJ20476|KIAA1682|3PAP" PIP3AP phosphatidylinositol-3-phosphate associated protein Myotubularins 903 2003-09-26 2005-04-07 2005-04-07 2021-09-29 54545 ENSG00000150712 OTTHUMG00000161978 uc003jhq.4 AB051469 NM_001040446 "CCDS75230|CCDS77998|CCDS34138" Q9C0I1 "11504939|12495846" MGI:2443034 RGD:1307902 606501 HGNC:18191 "ENST00000382142.8|NM_001040446.3" +HGNC:55888 MTMR12P1 MTMR12 pseudogene 1 pseudogene pseudogene Approved 11q22.1 11q22.1 2021-09-29 2021-09-29 100420510 ENSG00000255504 NG_024554 PGOHUM00000291116 +HGNC:26190 MTMR14 myotubularin related protein 14 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "FLJ22405|FLJ90311|hJumpy|hEDTP" egg-derived tyrosine phosphatase homolog (Drosophila) C3orf29 chromosome 3 open reading frame 29 "Myotubularins|Phosphoinositide phosphatases" "903|1079" 2005-12-22 2006-12-18 2006-12-18 2021-05-26 64419 ENSG00000163719 OTTHUMG00000155111 uc003brz.4 BC001674 NM_022485 "CCDS43043|CCDS43045|CCDS43044" Q8NCE2 15186772 MGI:1916075 RGD:1304842 611089 139178 HGNC:26190 "ENST00000296003.9|NM_001077525.3" HGNC:26190 +HGNC:38728 MTND1P1 MT-ND1 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 "MTND1 pseudogene 1|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 1" 2010-07-28 2018-05-29 2018-05-29 100499468 ENSG00000226529 OTTHUMG00000041272 NG_023506 HGNC:38728 +HGNC:42051 MTND1P2 MT-ND1 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 2 2011-06-01 2018-05-29 2018-05-29 100873170 ENSG00000235646 OTTHUMG00000156488 NG_032397 PGOHUM00000302245 HGNC:42051 +HGNC:42052 MTND1P3 MT-ND1 pseudogene 3 pseudogene pseudogene Approved 7q34 07q34 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 3 2011-06-01 2018-05-29 2018-05-29 100288984 ENSG00000239648 OTTHUMG00000157635 NG_029083 PGOHUM00000302453 HGNC:42052 +HGNC:42053 MTND1P4 MT-ND1 pseudogene 4 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 4 2011-06-01 2018-05-29 2018-05-29 100873171 ENSG00000230764 OTTHUMG00000156687 NG_032398 PGOHUM00000302669 HGNC:42053 +HGNC:42104 MTND1P5 MT-ND1 pseudogene 5 pseudogene pseudogene Approved 8q22.3 08q22.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 5 2011-06-01 2018-05-29 2018-05-29 100873174 ENSG00000253795 OTTHUMG00000164801 NG_032418 PGOHUM00000303645 HGNC:42104 +HGNC:42103 MTND1P6 MT-ND1 pseudogene 6 pseudogene pseudogene Approved 8p12 08p12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 6 2011-06-01 2018-05-29 2018-05-29 100873173 ENSG00000254346 OTTHUMG00000163931 NG_032417 PGOHUM00000303499 HGNC:42103 +HGNC:42102 MTND1P7 MT-ND1 pseudogene 7 pseudogene pseudogene Approved 8q11.1 08q11.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 7 2011-06-01 2018-05-29 2018-05-29 100873172 ENSG00000282321 OTTHUMG00000191367 NG_032416 PGOHUM00000303184 HGNC:42102 +HGNC:42100 MTND1P8 MT-ND1 pseudogene 8 pseudogene pseudogene Approved 16p13.3 16p13.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 8 2011-06-01 2018-05-29 2018-05-29 100287461 ENSG00000263177 OTTHUMG00000177598 NG_029090 PGOHUM00000293405 HGNC:42100 +HGNC:42099 MTND1P9 MT-ND1 pseudogene 9 pseudogene pseudogene Approved 20q13.31 20q13.31 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 9 2011-06-01 2018-05-29 2018-05-29 100873221 ENSG00000228995 OTTHUMG00000032816 NG_047090 PGOHUM00000297025 HGNC:42099 +HGNC:42097 MTND1P10 MT-ND1 pseudogene 10 pseudogene pseudogene Approved 22q12.3 22q12.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 10 2011-06-01 2018-05-29 2018-05-29 100873343 ENSG00000229088 OTTHUMG00000150637 NG_032414 PGOHUM00000297759 HGNC:42097 +HGNC:42060 MTND1P11 MT-ND1 pseudogene 11 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 11 2011-06-01 2018-05-29 2018-05-29 100873212 ENSG00000228166 OTTHUMG00000019492 NG_046969 PGOHUM00000304082 HGNC:42060 +HGNC:42061 MTND1P12 MT-ND1 pseudogene 12 pseudogene pseudogene Approved Yq11.21 Yq11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 12 2011-06-01 2018-05-29 2018-05-29 106480744 ENSG00000225433 OTTHUMG00000188087 NG_043748 PGOHUM00000305475 HGNC:42061 +HGNC:42096 MTND1P13 MT-ND1 pseudogene 13 pseudogene pseudogene Approved 22q11.23 alternate reference locus 22q11.23 alternate reference locus mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 13 2011-06-01 2018-05-29 2018-05-29 100887745 KI270879 NG_032764 PGOHUM00000246532 +HGNC:42063 MTND1P14 MT-ND1 pseudogene 14 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 14 2011-06-01 2018-05-29 2018-05-29 100873337 ENSG00000227225 OTTHUMG00000059467 NG_032400 PGOHUM00000294311 HGNC:42063 +HGNC:42064 MTND1P15 MT-ND1 pseudogene 15 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 15 2011-06-01 2018-05-29 2018-05-29 100288998 ENSG00000264168 OTTHUMG00000179069 NG_029089 PGOHUM00000294348 HGNC:42064 +HGNC:42065 MTND1P16 MT-ND1 pseudogene 16 pseudogene pseudogene Approved 3q13.12 03q13.12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 16 2011-06-01 2018-05-29 2018-05-29 100873213 ENSG00000239586 OTTHUMG00000159141 NG_032401 PGOHUM00000299528 HGNC:42065 +HGNC:42095 MTND1P17 MT-ND1 pseudogene 17 pseudogene pseudogene Approved 22q11.1 22q11.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 17 2011-06-01 2018-05-29 2018-05-29 100873342 ENSG00000228122 OTTHUMG00000147347 NG_032413 PGOHUM00000297434 HGNC:42095 +HGNC:42067 MTND1P18 MT-ND1 pseudogene 18 pseudogene pseudogene Approved 10p11.21 10p11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 18 2011-06-01 2018-05-29 2018-05-29 100873338 ENSG00000225276 OTTHUMG00000017975 NG_032402 PGOHUM00000289796 HGNC:42067 +HGNC:42094 MTND1P19 MT-ND1 pseudogene 19 pseudogene pseudogene Approved 4q22.1 04q22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 19 2011-06-01 2018-05-29 2018-05-29 100873220 ENSG00000251449 OTTHUMG00000160924 NG_032412 PGOHUM00000300293 HGNC:42094 +HGNC:42069 MTND1P20 MT-ND1 pseudogene 20 pseudogene pseudogene Approved 10q22.1 10q22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 20 2011-06-01 2018-05-29 2018-05-29 100873339 ENSG00000226794 OTTHUMG00000018385 NG_032403 PGOHUM00000289895 HGNC:42069 +HGNC:42070 MTND1P21 MT-ND1 pseudogene 21 pseudogene pseudogene Approved 10p12.31 10p12.31 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 21 2011-06-01 2018-05-29 2018-05-29 100873340 ENSG00000235940 OTTHUMG00000017784 NG_032404 PGOHUM00000290058 HGNC:42070 +HGNC:42093 MTND1P22 MT-ND1 pseudogene 22 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 22 2011-06-01 2018-05-29 2018-05-29 100287591 ENSG00000251407 OTTHUMG00000161807 NG_029085 PGOHUM00000300049 HGNC:42093 +HGNC:42092 MTND1P23 MT-ND1 pseudogene 23 pseudogene pseudogene Approved 1p36.33 01p36.33 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 23 2011-06-01 2018-05-29 2018-05-29 100887749 ENSG00000225972 OTTHUMG00000002338 NG_032769 PGOHUM00000296175 HGNC:42092 +HGNC:42073 MTND1P24 MT-ND1 pseudogene 24 pseudogene pseudogene Approved 12q12 12q12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 24 2011-06-01 2018-05-29 2018-05-29 100873341 ENSG00000257858 OTTHUMG00000169367 NG_032405 PGOHUM00000291305 HGNC:42073 +HGNC:42091 MTND1P25 MT-ND1 pseudogene 25 pseudogene pseudogene Approved 1q43 01q43 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 25 2011-06-01 2018-05-29 2018-05-29 100288950 NG_029087 PGOHUM00000296114 HGNC:42091 +HGNC:42075 MTND1P26 MT-ND1 pseudogene 26 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 26 2011-06-01 2018-05-29 2018-05-29 100873214 ENSG00000234576 OTTHUMG00000153566 NG_032406 PGOHUM00000298139 HGNC:42075 +HGNC:42076 MTND1P27 MT-ND1 pseudogene 27 pseudogene pseudogene Approved 2q22.1 02q22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 27 2011-06-01 2018-05-29 2018-05-29 100288227 ENSG00000223921 OTTHUMG00000153662 NG_029086 PGOHUM00000298169 HGNC:42076 +HGNC:42077 MTND1P28 MT-ND1 pseudogene 28 pseudogene pseudogene Approved 2q14.1 02q14.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 28 2011-06-01 2018-05-29 2018-05-29 100873215 ENSG00000230158 OTTHUMG00000153403 NG_032407 PGOHUM00000298656 HGNC:42077 +HGNC:42078 MTND1P29 MT-ND1 pseudogene 29 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 29 2011-06-01 2018-05-29 2018-05-29 100873216 ENSG00000237722 OTTHUMG00000153776 NG_032408 PGOHUM00000298692 HGNC:42078 +HGNC:42079 MTND1P30 MT-ND1 pseudogene 30 pseudogene pseudogene Approved Xp11.21 Xp11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 30 2011-06-01 2018-05-29 2018-05-29 100507157 ENSG00000238047 OTTHUMG00000021652 NG_029084 PGOHUM00000304647 HGNC:42079 +HGNC:42080 MTND1P31 MT-ND1 pseudogene 31 pseudogene pseudogene Approved Xq11.1 Xq11.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 31 2011-06-01 2018-05-29 2018-05-29 100873217 ENSG00000235170 OTTHUMG00000021692 NG_032409 PGOHUM00000305101 HGNC:42080 +HGNC:42081 MTND1P32 MT-ND1 pseudogene 32 pseudogene pseudogene Approved Xq22.1 Xq22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 32 2011-06-01 2018-05-29 2018-05-29 100856881 ENSG00000232282 OTTHUMG00000022067 NG_031905 PGOHUM00000305222 HGNC:42081 +HGNC:42082 MTND1P33 MT-ND1 pseudogene 33 pseudogene pseudogene Approved Xq27.3 Xq27.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 33 2011-06-01 2018-05-29 2018-05-29 100873218 ENSG00000235539 OTTHUMG00000022577 NG_032410 PGOHUM00000305369 HGNC:42082 +HGNC:42090 MTND1P34 MT-ND1 pseudogene 34 pseudogene pseudogene Approved 1p33 01p33 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 34 2011-06-01 2018-05-29 2018-05-29 100873219 ENSG00000225514 OTTHUMG00000007846 NG_032411 PGOHUM00000295662 HGNC:42090 +HGNC:42088 MTND1P35 MT-ND1 pseudogene 35 pseudogene pseudogene Approved 11q14.3 11q14.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 35 2011-06-01 2018-05-29 2018-05-29 106480433 ENSG00000255055 OTTHUMG00000167642 NG_043320 PGOHUM00000291086 HGNC:42088 +HGNC:42086 MTND1P36 MT-ND1 pseudogene 36 pseudogene pseudogene Approved 11q22.3 11q22.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 36 2011-06-01 2018-05-29 2018-05-29 100506721 ENSG00000253245 OTTHUMG00000165948 NG_029088 PGOHUM00000290676 HGNC:42086 +HGNC:52314 MTND1P37 MT-ND1 pseudogene 37 pseudogene pseudogene Approved 10p12.31 10p12.31 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 37 2016-07-22 2018-05-29 2020-04-06 109729170 ENSG00000283456 OTTHUMG00000191733 NG_052937 PGOHUM00000289759 HGNC:52314 +HGNC:7457 MTND2P1 MT-ND2 pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 "NADH dehydrogenase 2 pseudogene 1|MTND2 pseudogene 1|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 1" 2000-06-16 2018-05-30 2018-05-30 387315 NG_011402 PGOHUM00000297256 HGNC:7457 +HGNC:23767 MTND2P2 MT-ND2 pseudogene 2 pseudogene pseudogene Approved Xq22.1 Xq22.1 "NADH dehydrogenase 2 pseudogene 2|MTND2 pseudogene 2|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 2" 2003-12-10 2018-05-30 2018-05-30 56168 ENSG00000229954 OTTHUMG00000022068 NG_002320 HGNC:23767 +HGNC:38727 MTND2P3 MT-ND2 pseudogene 3 pseudogene pseudogene Approved Yp11.2 Yp11.2 "MTND2 pseudogene 3|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 3" 2010-07-28 2018-05-30 2018-05-30 100499457 ENSG00000234850 OTTHUMG00000041273 NG_023505 HGNC:38727 +HGNC:42105 MTND2P4 MT-ND2 pseudogene 4 pseudogene pseudogene Approved 7q11.21 07q11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 4 2011-06-02 2018-05-30 2018-05-30 100873175 ENSG00000230252 OTTHUMG00000156475 NG_032419 PGOHUM00000302244 HGNC:42105 +HGNC:42106 MTND2P5 MT-ND2 pseudogene 5 pseudogene pseudogene Approved 7q34 07q34 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 5 2011-06-02 2018-05-30 2018-05-30 100873176 ENSG00000224354 OTTHUMG00000157636 NG_032420 PGOHUM00000302452 HGNC:42106 +HGNC:42107 MTND2P6 MT-ND2 pseudogene 6 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 6 2011-06-02 2018-05-30 2018-05-30 100873177 ENSG00000237309 OTTHUMG00000156691 NG_032421 PGOHUM00000302670 HGNC:42107 +HGNC:42141 MTND2P7 MT-ND2 pseudogene 7 pseudogene pseudogene Approved 8q24.22 08q24.22 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 7 2011-06-02 2018-05-30 2018-05-30 100873179 ENSG00000253970 OTTHUMG00000164535 NG_032446 PGOHUM00000303686 HGNC:42141 +HGNC:42109 MTND2P8 MT-ND2 pseudogene 8 pseudogene pseudogene Approved 9q21.31 09q21.31 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 8 2011-06-02 2018-05-30 2018-05-30 100873178 ENSG00000237257 OTTHUMG00000020067 NG_032422 PGOHUM00000303947 HGNC:42109 +HGNC:42110 MTND2P9 MT-ND2 pseudogene 9 pseudogene pseudogene Approved 9q21.31 09q21.31 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 9 2011-06-02 2018-05-30 2018-05-30 100884155 ENSG00000225901 OTTHUMG00000020077 NG_032653 PGOHUM00000303951 HGNC:42110 +HGNC:42140 MTND2P10 MT-ND2 pseudogene 10 pseudogene pseudogene Approved 8q22.3 08q22.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 10 2011-06-02 2018-05-30 2018-05-30 100873238 NG_032445 PGOHUM00000303646 HGNC:42140 +HGNC:42112 MTND2P11 MT-ND2 pseudogene 11 pseudogene pseudogene Approved 9q31.3 09q31.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 11 2011-06-02 2018-05-30 2018-05-30 100873222 ENSG00000237124 OTTHUMG00000020471 NG_032423 PGOHUM00000304441 HGNC:42112 +HGNC:42113 MTND2P12 MT-ND2 pseudogene 12 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 12 2011-06-02 2018-05-30 2018-05-30 100873344 ENSG00000228725 OTTHUMG00000059468 NG_032424 PGOHUM00000294312 HGNC:42113 +HGNC:42114 MTND2P13 MT-ND2 pseudogene 13 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 13 2011-06-02 2018-05-30 2018-05-30 100873345 ENSG00000263914 OTTHUMG00000179070 NG_032425 PGOHUM00000294349 HGNC:42114 +HGNC:42115 MTND2P14 MT-ND2 pseudogene 14 pseudogene pseudogene Approved 3q13.12 03q13.12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 14 2011-06-02 2018-05-30 2018-05-30 100873223 ENSG00000240796 OTTHUMG00000159142 NG_032426 PGOHUM00000299529 HGNC:42115 +HGNC:42116 MTND2P15 MT-ND2 pseudogene 15 pseudogene pseudogene Approved 10q22.1 10q22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 15 2011-06-02 2018-05-30 2018-05-30 100873346 ENSG00000231152 OTTHUMG00000018386 NG_032427 PGOHUM00000289894 HGNC:42116 +HGNC:42117 MTND2P16 MT-ND2 pseudogene 16 pseudogene pseudogene Approved 10p12.31 10p12.31 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 16 2011-06-02 2018-05-30 2018-05-30 100873347 ENSG00000230818 OTTHUMG00000017778 NG_032428 PGOHUM00000290055 HGNC:42117 +HGNC:42118 MTND2P17 MT-ND2 pseudogene 17 pseudogene pseudogene Approved 12q12 12q12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 17 2011-06-02 2018-05-30 2018-05-30 100873348 ENSG00000258239 OTTHUMG00000169366 NG_032429 PGOHUM00000291304 HGNC:42118 +HGNC:42119 MTND2P18 MT-ND2 pseudogene 18 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 18 2011-06-02 2018-05-30 2018-05-30 100873224 ENSG00000234939 OTTHUMG00000153597 NG_032430 PGOHUM00000298138 HGNC:42119 +HGNC:42120 MTND2P19 MT-ND2 pseudogene 19 pseudogene pseudogene Approved 2q22.1 02q22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 19 2011-06-02 2018-05-30 2018-05-30 100873225 ENSG00000231567 OTTHUMG00000153661 NG_032431 PGOHUM00000298168 HGNC:42120 +HGNC:42121 MTND2P20 MT-ND2 pseudogene 20 pseudogene pseudogene Approved 2q24.1 02q24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 20 2011-06-02 2018-05-30 2018-05-30 100873226 ENSG00000229701 OTTHUMG00000153817 NG_032432 PGOHUM00000298196 HGNC:42121 +HGNC:42122 MTND2P21 MT-ND2 pseudogene 21 pseudogene pseudogene Approved 2q14.1 02q14.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 21 2011-06-02 2018-05-30 2018-05-30 100873227 ENSG00000230950 OTTHUMG00000153401 NG_032433 PGOHUM00000298657 HGNC:42122 +HGNC:42123 MTND2P22 MT-ND2 pseudogene 22 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 22 2011-06-02 2018-05-30 2018-05-30 100873228 ENSG00000231954 OTTHUMG00000153770 NG_032434 PGOHUM00000298693 HGNC:42123 +HGNC:42124 MTND2P23 MT-ND2 pseudogene 23 pseudogene pseudogene Approved 2q34 02q34 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 23 2011-06-02 2018-05-30 2018-05-30 100873229 ENSG00000232631 OTTHUMG00000154766 NG_011805 PGOHUM00000298872 HGNC:42124 +HGNC:42125 MTND2P24 MT-ND2 pseudogene 24 pseudogene pseudogene Approved Xp11.21 Xp11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 24 2011-06-02 2018-05-30 2018-05-30 100873230 ENSG00000231947 OTTHUMG00000021653 NG_032436 PGOHUM00000304646 HGNC:42125 +HGNC:42126 MTND2P25 MT-ND2 pseudogene 25 pseudogene pseudogene Approved Xq11.1 Xq11.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 25 2011-06-02 2018-05-30 2018-05-30 100873231 ENSG00000228182 OTTHUMG00000021693 NG_032437 PGOHUM00000305102 HGNC:42126 +HGNC:42127 MTND2P26 MT-ND2 pseudogene 26 pseudogene pseudogene Approved 11q22.3 11q22.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 26 2011-06-02 2018-05-30 2018-05-30 100873349 ENSG00000254565 OTTHUMG00000165947 NG_016423 PGOHUM00000290675 HGNC:42127 +HGNC:42128 MTND2P27 MT-ND2 pseudogene 27 pseudogene pseudogene Approved 1q43 01q43 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 27 2011-06-02 2018-05-30 2018-05-30 100873232 NG_032439 PGOHUM00000296113 HGNC:42128 +HGNC:42129 MTND2P28 MT-ND2 pseudogene 28 pseudogene pseudogene Approved 1p36.33 01p36.33 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 28 2011-06-02 2018-05-30 2018-05-30 100652939 ENSG00000225630 OTTHUMG00000002336 NG_032768 PGOHUM00000296176 HGNC:42129 +HGNC:42130 MTND2P29 MT-ND2 pseudogene 29 pseudogene pseudogene Approved 1p33 01p33 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 29 2011-06-02 2018-05-30 2018-05-30 100873233 ENSG00000233595 OTTHUMG00000008274 NG_032440 PGOHUM00000296321 HGNC:42130 +HGNC:42131 MTND2P30 MT-ND2 pseudogene 30 pseudogene pseudogene Approved 1p31.1 01p31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 30 2011-06-02 2018-05-30 2018-05-30 100873234 ENSG00000227937 OTTHUMG00000010773 NG_032441 PGOHUM00000296377 HGNC:42131 +HGNC:42132 MTND2P31 MT-ND2 pseudogene 31 pseudogene pseudogene Approved 4p15.33 04p15.33 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 31 2011-06-02 2018-05-30 2018-05-30 100873235 ENSG00000251252 OTTHUMG00000160120 NG_032442 PGOHUM00000299770 HGNC:42132 +HGNC:42139 MTND2P32 MT-ND2 pseudogene 32 pseudogene pseudogene Approved 8p12 08p12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 32 2011-06-02 2018-05-30 2018-05-30 100873237 ENSG00000254090 OTTHUMG00000163932 NG_032444 PGOHUM00000303500 HGNC:42139 +HGNC:42134 MTND2P33 MT-ND2 pseudogene 33 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 33 2011-06-02 2018-05-30 2018-05-30 100873236 ENSG00000248907 OTTHUMG00000161812 NG_032443 PGOHUM00000300048 HGNC:42134 +HGNC:52065 MTND2P34 MT-ND2 pseudogene 34 pseudogene pseudogene Approved 16p13.3 16p13.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 34 2015-10-16 2018-05-30 2020-04-06 107161146 NG_046685 PGOHUM00000293404 HGNC:52065 +HGNC:52066 MTND2P35 MT-ND2 pseudogene 35 pseudogene pseudogene Approved 8q23.2 08q23.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 35 2015-10-16 2018-05-30 2020-04-06 107161147 NG_046689 PGOHUM00000303357 HGNC:52066 +HGNC:52067 MTND2P36 MT-ND2 pseudogene 36 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 36 2015-10-16 2018-05-30 2020-04-06 107161148 NG_009904 PGOHUM00000304083 HGNC:52067 +HGNC:52068 MTND2P37 MT-ND2 pseudogene 37 pseudogene pseudogene Approved 7q31.2 07q31.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 37 2015-10-16 2018-05-30 2020-04-06 107161150 NG_046692 PGOHUM00000302902 HGNC:52068 +HGNC:52069 MTND2P38 MT-ND2 pseudogene 38 pseudogene pseudogene Approved 8q11.1 08q11.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 38 2015-10-28 2018-05-30 2020-04-06 107075276 ENSG00000253828 OTTHUMG00000164131 NG_046512 PGOHUM00000303183 HGNC:52069 +HGNC:52070 MTND2P39 MT-ND2 pseudogene 39 pseudogene pseudogene Approved Xq27.3 Xq27.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 39 2015-10-16 2018-05-30 2020-04-06 107075312 ENSG00000230130 OTTHUMG00000022578 NG_046513 HGNC:52070 +HGNC:52084 MTND2P40 MT-ND2 pseudogene 40 pseudogene pseudogene Approved 19p13.2 19p13.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 40 2015-10-28 2018-05-30 2018-05-30 107075280 ENSG00000236483 OTTHUMG00000156417 NG_046514 HGNC:52084 +HGNC:52317 MTND2P41 MT-ND2 pseudogene 41 pseudogene pseudogene Approved 4q13.2 04q13.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 41 2016-07-22 2018-05-30 2020-04-06 109729121 ENSG00000283131 OTTHUMG00000191786 NG_052938 PGOHUM00000299856 HGNC:52317 +HGNC:39856 MTND3P1 MT-ND3 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 "MTND3 pseudogene 1|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 1" 2011-04-05 2018-05-30 2018-05-30 100873208 ENSG00000226118 OTTHUMG00000016548 NG_032362 HGNC:39856 +HGNC:42142 MTND3P2 MT-ND3 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 2 2011-06-02 2018-05-30 2018-05-30 100873180 ENSG00000230052 OTTHUMG00000156478 NG_032447 PGOHUM00000302239 HGNC:42142 +HGNC:42155 MTND3P3 MT-ND3 pseudogene 3 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 3 2011-06-02 2018-05-30 2018-05-30 100873187 ENSG00000249127 OTTHUMG00000161926 NG_032455 PGOHUM00000300043 HGNC:42155 +HGNC:42144 MTND3P4 MT-ND3 pseudogene 4 pseudogene pseudogene Approved 9q31.1 09q31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 4 2011-06-02 2018-05-30 2018-05-30 100873181 ENSG00000230302 OTTHUMG00000020389 NG_032448 PGOHUM00000304015 HGNC:42144 +HGNC:42154 MTND3P5 MT-ND3 pseudogene 5 pseudogene pseudogene Approved 4p15.2 04p15.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 5 2011-06-02 2018-05-30 2018-05-30 100873186 ENSG00000251353 OTTHUMG00000160335 NG_032454 PGOHUM00000299784 HGNC:42154 +HGNC:42146 MTND3P6 MT-ND3 pseudogene 6 pseudogene pseudogene Approved 3q13.12 03q13.12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 6 2011-06-02 2018-05-30 2018-05-30 100873182 ENSG00000242214 OTTHUMG00000159164 NG_032449 PGOHUM00000299113 HGNC:42146 +HGNC:42147 MTND3P7 MT-ND3 pseudogene 7 pseudogene pseudogene Approved 3q26.1 03q26.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 7 2011-06-02 2018-05-30 2018-05-30 100873183 ENSG00000240824 OTTHUMG00000158212 NG_032450 PGOHUM00000299260 HGNC:42147 +HGNC:42153 MTND3P8 MT-ND3 pseudogene 8 pseudogene pseudogene Approved 1q42.3 01q42.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 8 2011-06-02 2018-05-30 2018-05-30 100873185 ENSG00000232714 OTTHUMG00000040742 NG_032453 PGOHUM00000296108 HGNC:42153 +HGNC:42149 MTND3P9 MT-ND3 pseudogene 9 pseudogene pseudogene Approved 2q22.2 02q22.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 9 2011-06-02 2018-05-30 2018-05-30 100873184 ENSG00000227557 OTTHUMG00000153937 NG_032451 PGOHUM00000298178 HGNC:42149 +HGNC:42150 MTND3P10 MT-ND3 pseudogene 10 pseudogene pseudogene Approved 2q14.2 02q14.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 10 2011-06-02 2018-05-30 2018-05-30 100873239 ENSG00000233286 OTTHUMG00000154459 NG_032452 PGOHUM00000298665 HGNC:42150 +HGNC:52071 MTND3P11 MT-ND3 pseudogene 11 pseudogene pseudogene Approved 11q14.1 11q14.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 11 2015-10-19 2018-05-30 2020-04-06 107161160 NG_046699 PGOHUM00000291052 HGNC:52071 +HGNC:52072 MTND3P12 MT-ND3 pseudogene 12 pseudogene pseudogene Approved 15q21.3 15q21.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 12 2015-10-19 2018-05-30 2018-05-30 107075160 ENSG00000259626 OTTHUMG00000171995 NG_011975 PGOHUM00000293250 +HGNC:52073 MTND3P13 MT-ND3 pseudogene 13 pseudogene pseudogene Approved 16p13.13 16p13.13 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 13 2015-10-19 2018-05-30 2018-05-30 107075277 ENSG00000263196 OTTHUMG00000177349 NG_068461 PGOHUM00000293418 +HGNC:52074 MTND3P14 MT-ND3 pseudogene 14 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 14 2015-10-19 2018-05-30 2020-04-06 107161161 NG_009904 PGOHUM00000304088 HGNC:52074 +HGNC:52075 MTND3P15 MT-ND3 pseudogene 15 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 15 2015-10-19 2018-05-30 2020-04-06 107161162 ENSG00000283940 OTTHUMG00000191889 NG_046702 PGOHUM00000298698 HGNC:52075 +HGNC:52076 MTND3P16 MT-ND3 pseudogene 16 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 16 2015-10-19 2018-05-30 2020-04-06 107075278 ENSG00000224590 OTTHUMG00000154755 NG_051007 HGNC:52076 +HGNC:52077 MTND3P17 MT-ND3 pseudogene 17 pseudogene pseudogene Approved 2q33.2 02q33.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 17 2015-10-19 2018-05-30 2020-04-06 107075279 ENSG00000233134 OTTHUMG00000154680 NG_046516 HGNC:52077 +HGNC:52078 MTND3P18 MT-ND3 pseudogene 18 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 18 2015-10-19 2018-05-30 2018-05-31 107161164 ENSG00000283865 OTTHUMG00000191886 NG_046703 PGOHUM00000298133 HGNC:52078 +HGNC:52081 MTND3P19 MT-ND3 pseudogene 19 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 19 2015-10-27 2018-05-30 2020-04-06 107075161 ENSG00000271480 OTTHUMG00000185131 NG_046517 PGOHUM00000300693 HGNC:52081 +HGNC:52166 MTND3P20 MT-ND3 pseudogene 20 pseudogene pseudogene Approved 6q25.2 06q25.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 20 2015-10-26 2018-05-30 2020-04-06 107075294 ENSG00000220733 OTTHUMG00000015865 NG_046518 HGNC:52166 +HGNC:52167 MTND3P21 MT-ND3 pseudogene 21 pseudogene pseudogene Approved 1p22.1 01p22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 21 2015-10-26 2018-05-30 2020-04-06 107075198 ENSG00000235794 OTTHUMG00000010568 NG_046519 HGNC:52167 +HGNC:52168 MTND3P22 MT-ND3 pseudogene 22 pseudogene pseudogene Approved 4p11 04p11 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 22 2015-10-26 2018-05-30 2020-04-06 107075314 ENSG00000248946 OTTHUMG00000163192 NG_046520 HGNC:52168 +HGNC:52169 MTND3P23 MT-ND3 pseudogene 23 pseudogene pseudogene Approved 9q22.31 09q22.31 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 23 2015-10-26 2018-05-30 2020-04-06 107075295 ENSG00000238288 OTTHUMG00000021038 NG_007950 HGNC:52169 +HGNC:52170 MTND3P24 MT-ND3 pseudogene 24 pseudogene pseudogene Approved 4q13.1 04q13.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 24 2015-10-26 2018-05-30 2018-05-30 107075199 ENSG00000249045 OTTHUMG00000162342 NG_068441 +HGNC:52172 MTND3P25 MT-ND3 pseudogene 25 pseudogene pseudogene Approved 5q31.1 05q31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 pseudogene 25 2015-10-26 2018-05-30 2020-04-06 107075297 ENSG00000249192 OTTHUMG00000163071 NG_046522 HGNC:52172 +HGNC:31347 MTND4LP1 MT-ND4L pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 MTND4L2 MTND4 like 2 "MTND4L pseudogene 1|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 1" 2010-08-18 2018-05-30 2018-05-30 106478909 ENSG00000231501 OTTHUMG00000022351 NG_043411 PGOHUM00000305304 HGNC:31347 +HGNC:42236 MTND4LP2 MT-ND4L pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 2 2015-10-12 2018-05-30 2018-05-30 107075098 ENSG00000248315 OTTHUMG00000156473 NG_051916 PGOHUM00000302238 HGNC:42236 +HGNC:42265 MTND4LP3 MT-ND4L pseudogene 3 pseudogene pseudogene Approved 3q13.12 03q13.12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 3 2015-10-12 2018-05-30 2018-05-30 107075245 ENSG00000239632 OTTHUMG00000159165 NG_046530 PGOHUM00000299112 HGNC:42265 +HGNC:42238 MTND4LP4 MT-ND4L pseudogene 4 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 4 2015-10-12 2018-05-30 2018-05-30 107131120 NG_046638 PGOHUM00000302675 HGNC:42238 +HGNC:42239 MTND4LP5 MT-ND4L pseudogene 5 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 5 2015-10-12 2018-05-30 2018-05-30 107075235 ENSG00000270350 OTTHUMG00000185130 NG_068451 PGOHUM00000300692 +HGNC:42240 MTND4LP6 MT-ND4L pseudogene 6 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 6 2015-10-12 2018-05-30 2018-05-30 107131121 NG_046969 PGOHUM00000304089 HGNC:42240 +HGNC:42241 MTND4LP7 MT-ND4L pseudogene 7 pseudogene pseudogene Approved 9q22.31 09q22.31 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 7 2015-10-12 2018-05-30 2018-05-30 107075236 ENSG00000240791 OTTHUMG00000020217 NG_007950 PGOHUM00000304384 +HGNC:42242 MTND4LP8 MT-ND4L pseudogene 8 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 8 2015-10-12 2018-05-30 2018-05-30 107131124 NG_046642 PGOHUM00000294354 HGNC:42242 +HGNC:42243 MTND4LP9 MT-ND4L pseudogene 9 pseudogene pseudogene Approved 3p24.1 03p24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 9 2015-10-12 2018-05-30 2018-05-30 107075237 ENSG00000227795 OTTHUMG00000155734 NG_046531 PGOHUM00000298979 HGNC:42243 +HGNC:42244 MTND4LP10 MT-ND4L pseudogene 10 pseudogene pseudogene Approved 3q26.1 03q26.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 10 2015-10-12 2018-05-30 2018-05-30 107075099 ENSG00000240084 OTTHUMG00000158214 NG_046523 PGOHUM00000299259 HGNC:42244 +HGNC:42245 MTND4LP11 MT-ND4L pseudogene 11 pseudogene pseudogene Approved 10p11.22 10p11.22 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 11 2015-10-12 2018-05-30 2018-05-30 107075238 ENSG00000234163 OTTHUMG00000017932 NG_046524 PGOHUM00000289788 HGNC:42245 +HGNC:42246 MTND4LP12 MT-ND4L pseudogene 12 pseudogene pseudogene Approved 2q22.2 02q22.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 12 2015-10-12 2018-05-30 2018-05-30 107075239 ENSG00000236300 OTTHUMG00000153839 NG_068453 PGOHUM00000298177 +HGNC:42247 MTND4LP13 MT-ND4L pseudogene 13 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 13 2015-10-12 2018-05-30 2018-05-30 107075100 ENSG00000235318 OTTHUMG00000154738 NG_007265 PGOHUM00000298280 HGNC:42247 +HGNC:42248 MTND4LP14 MT-ND4L pseudogene 14 pseudogene pseudogene Approved 2q14.2 02q14.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 14 2015-10-12 2018-05-30 2018-05-30 107075305 ENSG00000243104 OTTHUMG00000154460 NG_068467 PGOHUM00000298666 +HGNC:42249 MTND4LP15 MT-ND4L pseudogene 15 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 15 2015-10-12 2018-05-30 2018-05-30 107131123 NG_046641 PGOHUM00000298699 HGNC:42249 +HGNC:42250 MTND4LP16 MT-ND4L pseudogene 16 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 16 2015-10-12 2018-05-30 2018-05-30 107075210 ENSG00000234731 OTTHUMG00000154758 NG_068444 PGOHUM00000298836 +HGNC:42251 MTND4LP17 MT-ND4L pseudogene 17 pseudogene pseudogene Approved 2q33.2 02q33.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 17 2015-10-12 2018-05-30 2018-05-30 107075240 ENSG00000241221 OTTHUMG00000154672 NG_046525 PGOHUM00000298848 HGNC:42251 +HGNC:42252 MTND4LP18 MT-ND4L pseudogene 18 pseudogene pseudogene Approved 11q14.1 11q14.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 18 2015-10-12 2018-05-30 2018-05-30 107075101 ENSG00000254747 OTTHUMG00000166827 PGOHUM00000291053 +HGNC:42253 MTND4LP19 MT-ND4L pseudogene 19 pseudogene pseudogene Approved 6q15 06q15 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 19 2015-10-12 2018-05-30 2018-05-30 107075241 ENSG00000219087 OTTHUMG00000015220 NG_046526 PGOHUM00000301888 HGNC:42253 +HGNC:42254 MTND4LP20 MT-ND4L pseudogene 20 pseudogene pseudogene Approved 6q25.2 06q25.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 20 2015-10-12 2018-05-30 2018-05-30 107075242 ENSG00000220514 OTTHUMG00000015866 NG_046527 PGOHUM00000301998 HGNC:42254 +HGNC:42255 MTND4LP21 MT-ND4L pseudogene 21 pseudogene pseudogene Approved 1q42.3 01q42.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 21 2015-10-12 2018-05-30 2018-05-30 107075306 ENSG00000231582 OTTHUMG00000040743 NG_051990 PGOHUM00000296107 HGNC:42255 +HGNC:42256 MTND4LP22 MT-ND4L pseudogene 22 pseudogene pseudogene Approved 4p15.2 04p15.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 22 2015-10-12 2018-05-30 2018-05-30 107075102 ENSG00000248133 OTTHUMG00000160334 NG_046528 PGOHUM00000299783 HGNC:42256 +HGNC:42257 MTND4LP23 MT-ND4L pseudogene 23 pseudogene pseudogene Approved 15q21.3 15q21.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 23 2015-10-13 2018-05-30 2018-05-30 107133487 NG_046644 PGOHUM00000293251 HGNC:42257 +HGNC:42258 MTND4LP24 MT-ND4L pseudogene 24 pseudogene pseudogene Approved 16p13.13 16p13.13 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 24 2015-10-12 2018-05-30 2018-05-30 107075103 ENSG00000262259 OTTHUMG00000177348 NG_051952 PGOHUM00000293417 HGNC:42258 +HGNC:42259 MTND4LP25 MT-ND4L pseudogene 25 pseudogene pseudogene Approved 16q12.1 16q12.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 25 2015-10-12 2018-05-30 2018-05-30 107075243 ENSG00000260067 OTTHUMG00000176681 NG_054741 PGOHUM00000293606 HGNC:42259 +HGNC:42260 MTND4LP26 MT-ND4L pseudogene 26 pseudogene pseudogene Approved 8p22 08p22 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 26 2015-10-12 2018-05-30 2018-05-30 107075104 ENSG00000254015 OTTHUMG00000163793 NG_046529 PGOHUM00000303122 HGNC:42260 +HGNC:42261 MTND4LP27 MT-ND4L pseudogene 27 pseudogene pseudogene Approved 8q13.2 08q13.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 27 2015-10-14 2018-05-30 2020-04-06 107133488 NG_046645 PGOHUM00000303237 HGNC:42261 +HGNC:42262 MTND4LP28 MT-ND4L pseudogene 28 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 28 2015-10-12 2018-05-30 2018-05-30 107133489 NG_046647 PGOHUM00000298132 HGNC:42262 +HGNC:42263 MTND4LP29 MT-ND4L pseudogene 29 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 29 2015-10-12 2018-05-30 2018-05-30 107133490 NG_046648 PGOHUM00000300042 HGNC:42263 +HGNC:42264 MTND4LP30 MT-ND4L pseudogene 30 pseudogene pseudogene Approved 5q31.1 05q31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 30 2015-10-12 2018-05-30 2018-05-30 107075244 ENSG00000198868 OTTHUMG00000163074 NG_068454 PGOHUM00000300765 +HGNC:52171 MTND4LP31 MT-ND4L pseudogene 31 pseudogene pseudogene Approved 4q13.1 04q13.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 31 2015-10-26 2018-05-30 2018-05-30 107075296 ENSG00000248259 OTTHUMG00000162343 NG_068463 +HGNC:52318 MTND4LP32 MT-ND4L pseudogene 32 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L pseudogene 32 2016-07-22 2018-05-30 2018-05-30 109729156 ENSG00000283481 OTTHUMG00000191813 NG_068471 PGOHUM00000302665 +HGNC:42035 MTND4P1 MT-ND4 pseudogene 1 pseudogene pseudogene Approved 13q31.1 13q31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 1 2011-06-01 2018-05-30 2018-05-30 100873211 ENSG00000228597 OTTHUMG00000017153 NG_032393 PGOHUM00000292211 HGNC:42035 +HGNC:42189 MTND4P2 MT-ND4 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 2 2011-06-08 2018-05-30 2018-05-30 100873188 ENSG00000248704 OTTHUMG00000156480 NG_032457 PGOHUM00000302237 HGNC:42189 +HGNC:42190 MTND4P3 MT-ND4 pseudogene 3 pseudogene pseudogene Approved 7q11.22 07q11.22 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 3 2011-06-08 2018-05-30 2018-05-30 100873189 ENSG00000225959 OTTHUMG00000156580 NG_032458 PGOHUM00000302284 HGNC:42190 +HGNC:42191 MTND4P4 MT-ND4 pseudogene 4 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 4 2011-06-08 2018-05-30 2018-05-30 100873190 ENSG00000225295 OTTHUMG00000156690 NG_032459 PGOHUM00000302666 HGNC:42191 +HGNC:42192 MTND4P5 MT-ND4 pseudogene 5 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 5 2011-06-08 2018-05-30 2018-05-30 100873191 ENSG00000227584 OTTHUMG00000156680 NG_032460 PGOHUM00000302676 HGNC:42192 +HGNC:42193 MTND4P6 MT-ND4 pseudogene 6 pseudogene pseudogene Approved 7q31.2 07q31.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 6 2011-06-08 2018-05-30 2018-05-30 100873192 ENSG00000224042 OTTHUMG00000033990 NG_032461 PGOHUM00000302903 HGNC:42193 +HGNC:42234 MTND4P7 MT-ND4 pseudogene 7 pseudogene pseudogene Approved 8p22 08p22 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 7 2011-06-08 2018-05-30 2018-05-30 100873195 ENSG00000253257 OTTHUMG00000163951 NG_015998 PGOHUM00000303113 HGNC:42234 +HGNC:42227 MTND4P8 MT-ND4 pseudogene 8 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 8 2011-06-08 2018-05-30 2018-05-30 100873194 ENSG00000248548 OTTHUMG00000161821 NG_032483 PGOHUM00000300041 HGNC:42227 +HGNC:42226 MTND4P9 MT-ND4 pseudogene 9 pseudogene pseudogene Approved 4p15.2 04p15.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 9 2011-06-08 2018-05-30 2018-05-30 100873193 ENSG00000250050 OTTHUMG00000160336 NG_032482 PGOHUM00000299782 HGNC:42226 +HGNC:42225 MTND4P10 MT-ND4 pseudogene 10 pseudogene pseudogene Approved 1q42.3 01q42.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 10 2011-06-08 2018-05-30 2018-05-30 100873256 ENSG00000226663 OTTHUMG00000040744 NG_032481 PGOHUM00000296106 HGNC:42225 +HGNC:42223 MTND4P11 MT-ND4 pseudogene 11 pseudogene pseudogene Approved 1p22.1 01p22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 11 2011-06-08 2018-05-30 2018-05-30 100873255 ENSG00000234099 OTTHUMG00000010569 NG_032480 PGOHUM00000295756 HGNC:42223 +HGNC:42199 MTND4P12 MT-ND4 pseudogene 12 pseudogene pseudogene Approved 5q31.1 05q31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 12 2011-06-08 2018-05-30 2018-05-30 100293090 ENSG00000247627 OTTHUMG00000163066 NG_029205 PGOHUM00000300764 HGNC:42199 +HGNC:42222 MTND4P13 MT-ND4 pseudogene 13 pseudogene pseudogene Approved 6q25.2 06q25.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 13 2011-06-08 2018-05-30 2018-05-30 100862853 ENSG00000216713 OTTHUMG00000015867 NG_032145 PGOHUM00000301999 HGNC:42222 +HGNC:42201 MTND4P14 MT-ND4 pseudogene 14 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 14 2011-06-08 2018-05-30 2018-05-30 100653489 ENSG00000236254 OTTHUMG00000019486 NG_029701 PGOHUM00000304090 HGNC:42201 +HGNC:42202 MTND4P15 MT-ND4 pseudogene 15 pseudogene pseudogene Approved 9q22.31 09q22.31 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 15 2011-06-08 2018-05-30 2018-05-30 100873240 ENSG00000227321 OTTHUMG00000020218 NG_032462 PGOHUM00000304385 HGNC:42202 +HGNC:42203 MTND4P16 MT-ND4 pseudogene 16 pseudogene pseudogene Approved 3q13.12 03q13.12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 16 2011-06-08 2018-05-30 2018-05-30 100873241 ENSG00000241787 OTTHUMG00000159166 NG_032463 PGOHUM00000299111 HGNC:42203 +HGNC:42204 MTND4P17 MT-ND4 pseudogene 17 pseudogene pseudogene Approved 3q26.1 03q26.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 17 2011-06-08 2018-05-30 2018-05-30 100873242 ENSG00000242178 OTTHUMG00000158171 NG_032464 PGOHUM00000299258 HGNC:42204 +HGNC:42205 MTND4P18 MT-ND4 pseudogene 18 pseudogene pseudogene Approved 10p11.21 10p11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 18 2011-06-08 2018-05-30 2018-05-30 100873350 ENSG00000228694 OTTHUMG00000017962 NG_032465 PGOHUM00000289794 HGNC:42205 +HGNC:42206 MTND4P19 MT-ND4 pseudogene 19 pseudogene pseudogene Approved 10q23.33 10q23.33 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 19 2011-06-08 2018-05-30 2018-05-30 100873351 ENSG00000230338 OTTHUMG00000018795 NG_008384 PGOHUM00000289961 HGNC:42206 +HGNC:42207 MTND4P20 MT-ND4 pseudogene 20 pseudogene pseudogene Approved 10q23.33 10q23.33 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 20 2011-06-08 2018-05-30 2018-05-30 100873352 ENSG00000233377 OTTHUMG00000018801 NG_008385 PGOHUM00000289962 HGNC:42207 +HGNC:42208 MTND4P21 MT-ND4 pseudogene 21 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 21 2011-06-08 2018-05-30 2018-05-30 100873243 ENSG00000231777 OTTHUMG00000153572 NG_032468 PGOHUM00000298131 HGNC:42208 +HGNC:42209 MTND4P22 MT-ND4 pseudogene 22 pseudogene pseudogene Approved 2q22.2 02q22.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 22 2011-06-08 2018-05-30 2018-05-30 100873244 ENSG00000232772 OTTHUMG00000153840 NG_032469 PGOHUM00000298176 HGNC:42209 +HGNC:42210 MTND4P23 MT-ND4 pseudogene 23 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 23 2011-06-08 2018-05-30 2018-05-30 100873245 ENSG00000225796 OTTHUMG00000154739 NG_032470 PGOHUM00000298279 HGNC:42210 +HGNC:42220 MTND4P24 MT-ND4 pseudogene 24 pseudogene pseudogene Approved Xq25 Xq25 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 24 2011-06-08 2018-05-30 2018-05-30 100873254 ENSG00000232177 OTTHUMG00000022352 NG_032479 PGOHUM00000305305 HGNC:42220 +HGNC:42212 MTND4P25 MT-ND4 pseudogene 25 pseudogene pseudogene Approved 2p12 02p12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 25 2011-06-08 2018-05-30 2018-05-30 100873246 ENSG00000226700 OTTHUMG00000152963 NG_032471 PGOHUM00000298484 HGNC:42212 +HGNC:42213 MTND4P26 MT-ND4 pseudogene 26 pseudogene pseudogene Approved 2q14.2 02q14.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 26 2011-06-08 2018-05-30 2018-05-30 100873247 ENSG00000234065 OTTHUMG00000154456 NG_032472 PGOHUM00000298667 HGNC:42213 +HGNC:42214 MTND4P27 MT-ND4 pseudogene 27 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 27 2011-06-08 2018-05-30 2018-05-30 100873248 ENSG00000230548 OTTHUMG00000153772 NG_032473 PGOHUM00000298700 HGNC:42214 +HGNC:42215 MTND4P28 MT-ND4 pseudogene 28 pseudogene pseudogene Approved 2q24.1 02q24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 28 2011-06-08 2018-05-30 2018-05-30 100873249 ENSG00000233709 OTTHUMG00000153816 NG_032474 PGOHUM00000298763 HGNC:42215 +HGNC:42216 MTND4P29 MT-ND4 pseudogene 29 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 29 2011-06-08 2018-05-30 2018-05-30 100873250 ENSG00000249177 OTTHUMG00000154760 NG_051007 PGOHUM00000298837 HGNC:42216 +HGNC:42217 MTND4P30 MT-ND4 pseudogene 30 pseudogene pseudogene Approved 2q33.2 02q33.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 30 2011-06-08 2018-05-30 2018-05-30 100873251 ENSG00000227454 OTTHUMG00000154679 NG_032476 PGOHUM00000298849 HGNC:42217 +HGNC:42218 MTND4P31 MT-ND4 pseudogene 31 pseudogene pseudogene Approved Xq13.1 Xq13.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 31 2011-06-08 2018-05-30 2018-05-30 100873252 ENSG00000235382 OTTHUMG00000021760 NG_032477 PGOHUM00000304685 HGNC:42218 +HGNC:42219 MTND4P32 MT-ND4 pseudogene 32 pseudogene pseudogene Approved Xq22.1 Xq22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 32 2011-06-08 2018-05-30 2018-05-30 100873253 ENSG00000226056 OTTHUMG00000022063 NG_032478 PGOHUM00000305227 HGNC:42219 +HGNC:51947 MTND4P33 MT-ND4 pseudogene 33 pseudogene pseudogene Approved 14q31.2 14q31.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 33 2015-10-12 2018-05-30 2018-05-30 107075253 ENSG00000258762 OTTHUMG00000171375 NG_068456 PGOHUM00000292741 +HGNC:51948 MTND4P34 MT-ND4 pseudogene 34 pseudogene pseudogene Approved 16p13.13 16p13.13 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 34 2015-10-12 2018-05-30 2020-04-06 107075308 ENSG00000262322 OTTHUMG00000177347 NG_046532 PGOHUM00000293416 HGNC:51948 +HGNC:51949 MTND4P35 MT-ND4 pseudogene 35 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 35 2015-10-12 2018-05-30 2018-05-30 107075117 ENSG00000270906 OTTHUMG00000185129 NG_068431 PGOHUM00000300691 +HGNC:51950 MTND4P36 MT-ND4 pseudogene 36 pseudogene pseudogene Approved 11q14.1 11q14.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 36 2015-10-12 2018-05-30 2020-04-06 107403074 NG_046794 PGOHUM00000291054 HGNC:51950 +HGNC:52319 MTND4P37 MT-ND4 pseudogene 37 pseudogene pseudogene Approved 15q15.1 15q15.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 37 2016-07-22 2018-05-30 2020-04-06 112163599 NG_065999 PGOHUM00000292916 HGNC:52319 +HGNC:52320 MTND4P38 MT-ND4 pseudogene 38 pseudogene pseudogene Approved 15q21.3 15q21.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 38 2016-07-22 2018-05-30 2018-05-30 PGOHUM00000293252 +HGNC:52324 MTND4P39 MT-ND4 pseudogene 39 pseudogene pseudogene Approved 8q13.2 08q13.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 39 2016-07-22 2018-05-30 2020-04-06 112163524 NG_027682 PGOHUM00000303236 HGNC:52324 +HGNC:52336 MTND4P40 MT-ND4 pseudogene 40 pseudogene pseudogene Approved 2q37.3 02q37.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 40 2016-07-22 2018-05-30 2018-05-30 112272547 NG_068478 PGOHUM00000298366 +HGNC:52334 MTND4P41 MT-ND4 pseudogene 41 pseudogene pseudogene Approved 19q13.12 19q13.12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 41 2016-07-22 2018-05-30 2020-04-06 111188160 NG_055562 PGOHUM00000295351 HGNC:52334 +HGNC:39644 MTND5P1 MT-ND5 pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 "MTND5 pseudogene 1|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 1" 2011-03-17 2018-05-30 2018-05-30 100873206 ENSG00000227999 OTTHUMG00000040844 NG_032335 PGOHUM00000297274 HGNC:39644 +HGNC:41919 MTND5P2 MT-ND5 pseudogene 2 pseudogene pseudogene Approved 13q32.1 13q32.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 2 2011-05-18 2018-05-30 2018-05-30 100873209 ENSG00000229622 OTTHUMG00000017222 NG_041830 PGOHUM00000292224 HGNC:41919 +HGNC:42034 MTND5P3 MT-ND5 pseudogene 3 pseudogene pseudogene Approved 13q31.1 13q31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 3 2011-06-01 2018-05-30 2018-05-30 100873210 ENSG00000232447 OTTHUMG00000017152 NG_032392 PGOHUM00000292212 HGNC:42034 +HGNC:42306 MTND5P4 MT-ND5 pseudogene 4 pseudogene pseudogene Approved 4p15.32 04p15.32 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 4 2011-06-09 2018-05-30 2018-05-30 100873200 ENSG00000251212 OTTHUMG00000160230 NG_032507 PGOHUM00000300161 HGNC:42306 +HGNC:42307 MTND5P5 MT-ND5 pseudogene 5 pseudogene pseudogene Approved 4q24 04q24 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 5 2011-06-09 2018-05-30 2018-05-30 100873201 ENSG00000251149 OTTHUMG00000160965 NG_015824 PGOHUM00000300304 HGNC:42307 +HGNC:42268 MTND5P6 MT-ND5 pseudogene 6 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 6 2011-06-09 2018-05-30 2018-05-30 100873196 ENSG00000228440 OTTHUMG00000156679 NG_032485 PGOHUM00000302667 HGNC:42268 +HGNC:42269 MTND5P7 MT-ND5 pseudogene 7 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 7 2011-06-09 2018-05-30 2018-05-30 100873197 ENSG00000230531 OTTHUMG00000156692 NG_032486 PGOHUM00000302677 HGNC:42269 +HGNC:42270 MTND5P8 MT-ND5 pseudogene 8 pseudogene pseudogene Approved 7q31.1 07q31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 8 2011-06-09 2018-05-30 2018-05-30 100873198 ENSG00000230999 OTTHUMG00000155121 NG_032487 PGOHUM00000302897 HGNC:42270 +HGNC:42305 MTND5P9 MT-ND5 pseudogene 9 pseudogene pseudogene Approved 4q32.1 04q32.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 9 2011-06-10 2018-05-30 2018-05-30 100873199 ENSG00000248748 OTTHUMG00000161699 NG_032506 PGOHUM00000300040 HGNC:42305 +HGNC:42272 MTND5P10 MT-ND5 pseudogene 10 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 10 2011-06-10 2018-05-30 2018-05-30 643031 ENSG00000271687 OTTHUMG00000185128 NG_027711 PGOHUM00000300690 HGNC:42272 +HGNC:42273 MTND5P11 MT-ND5 pseudogene 11 pseudogene pseudogene Approved 5q31.1 05q31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 11 2011-06-10 2018-05-30 2018-05-30 100506169 ENSG00000248923 OTTHUMG00000163063 NG_029206 PGOHUM00000300763 HGNC:42273 +HGNC:42274 MTND5P12 MT-ND5 pseudogene 12 pseudogene pseudogene Approved 5q15 05q15 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 12 2011-06-10 2018-05-30 2018-05-30 100873257 ENSG00000251544 OTTHUMG00000162663 NG_032488 PGOHUM00000301055 HGNC:42274 +HGNC:42304 MTND5P13 MT-ND5 pseudogene 13 pseudogene pseudogene Approved 4q13.1 04q13.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 13 2011-06-10 2018-05-30 2018-05-30 100873272 ENSG00000250169 OTTHUMG00000162346 NG_032505 PGOHUM00000299845 HGNC:42304 +HGNC:42276 MTND5P14 MT-ND5 pseudogene 14 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 14 2011-06-10 2018-05-30 2018-05-30 100873258 ENSG00000230225 OTTHUMG00000019481 NG_032489 PGOHUM00000304091 HGNC:42276 +HGNC:42277 MTND5P15 MT-ND5 pseudogene 15 pseudogene pseudogene Approved 3q26.32 03q26.32 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 15 2011-06-10 2018-05-30 2018-05-30 100873259 ENSG00000231888 OTTHUMG00000157221 NG_032490 PGOHUM00000299280 HGNC:42277 +HGNC:42278 MTND5P16 MT-ND5 pseudogene 16 pseudogene pseudogene Approved 3q13.12 03q13.12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 16 2011-06-10 2018-05-30 2018-05-30 100862854 ENSG00000243658 OTTHUMG00000159140 NG_032146 PGOHUM00000299527 HGNC:42278 +HGNC:42279 MTND5P17 MT-ND5 pseudogene 17 pseudogene pseudogene Approved 10p11.21 10p11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 17 2011-06-10 2018-05-30 2018-05-30 100873353 ENSG00000236626 OTTHUMG00000017961 NG_032491 PGOHUM00000289793 HGNC:42279 +HGNC:42302 MTND5P18 MT-ND5 pseudogene 18 pseudogene pseudogene Approved 1q43 01q43 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 18 2011-06-10 2018-05-30 2018-05-30 100873271 ENSG00000227860 OTTHUMG00000039589 NG_032504 PGOHUM00000296116 HGNC:42302 +HGNC:42301 MTND5P19 MT-ND5 pseudogene 19 pseudogene pseudogene Approved 1q42.3 01q42.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 19 2011-06-10 2018-05-30 2018-05-30 100873270 ENSG00000231199 OTTHUMG00000040745 NG_032503 PGOHUM00000296105 HGNC:42301 +HGNC:42300 MTND5P20 MT-ND5 pseudogene 20 pseudogene pseudogene Approved 1p13.2 01p13.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 20 2011-06-10 2018-05-30 2018-05-30 100873269 ENSG00000238256 OTTHUMG00000011801 NG_032502 PGOHUM00000295794 HGNC:42300 +HGNC:42296 MTND5P21 MT-ND5 pseudogene 21 pseudogene pseudogene Approved 11p15.4 11p15.4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 21 2011-06-10 2018-05-30 2018-05-30 100873354 ENSG00000255123 OTTHUMG00000165725 NG_032501 PGOHUM00000290824 HGNC:42296 +HGNC:42284 MTND5P22 MT-ND5 pseudogene 22 pseudogene pseudogene Approved 2q14.3 02q14.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 22 2011-06-10 2018-05-30 2018-05-30 100873260 ENSG00000238046 OTTHUMG00000153364 NG_032492 PGOHUM00000298092 HGNC:42284 +HGNC:42285 MTND5P23 MT-ND5 pseudogene 23 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 23 2011-06-10 2018-05-30 2018-05-30 100873261 ENSG00000235080 OTTHUMG00000153599 NG_032493 PGOHUM00000298130 HGNC:42285 +HGNC:42286 MTND5P24 MT-ND5 pseudogene 24 pseudogene pseudogene Approved 2q22.2 02q22.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 24 2011-06-10 2018-05-30 2018-05-30 100873262 ENSG00000224852 OTTHUMG00000153819 NG_032494 PGOHUM00000298175 HGNC:42286 +HGNC:42287 MTND5P25 MT-ND5 pseudogene 25 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 25 2011-06-10 2018-05-30 2018-05-30 100873263 ENSG00000227348 OTTHUMG00000154740 NG_032495 PGOHUM00000298278 HGNC:42287 +HGNC:42295 MTND5P26 MT-ND5 pseudogene 26 pseudogene pseudogene Approved Xq22.1 Xq22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 26 2011-06-10 2018-05-30 2018-05-30 100873268 ENSG00000234886 OTTHUMG00000022064 NG_032500 PGOHUM00000305228 HGNC:42295 +HGNC:42289 MTND5P27 MT-ND5 pseudogene 27 pseudogene pseudogene Approved 2p12 02p12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 27 2011-06-10 2018-05-30 2018-05-30 100873264 ENSG00000225045 OTTHUMG00000152965 NG_032496 PGOHUM00000298485 HGNC:42289 +HGNC:42290 MTND5P28 MT-ND5 pseudogene 28 pseudogene pseudogene Approved 2q14.2 02q14.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 28 2011-06-10 2018-05-30 2018-05-30 100505755 ENSG00000223549 OTTHUMG00000154458 NG_029210 PGOHUM00000298668 HGNC:42290 +HGNC:42291 MTND5P29 MT-ND5 pseudogene 29 pseudogene pseudogene Approved 2q21.1 02q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 29 2011-06-10 2018-05-30 2018-05-30 100873265 ENSG00000234934 OTTHUMG00000153769 NG_032497 PGOHUM00000298701 HGNC:42291 +HGNC:42292 MTND5P30 MT-ND5 pseudogene 30 pseudogene pseudogene Approved 2q24.1 02q24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 30 2011-06-10 2018-05-30 2018-05-30 100873266 ENSG00000233039 OTTHUMG00000153814 NG_032498 PGOHUM00000298764 HGNC:42292 +HGNC:42293 MTND5P31 MT-ND5 pseudogene 31 pseudogene pseudogene Approved 2q33.1 02q33.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 31 2011-06-10 2018-05-30 2018-05-30 100873267 ENSG00000227841 OTTHUMG00000154757 NG_032499 PGOHUM00000298838 HGNC:42293 +HGNC:51951 MTND5P32 MT-ND5 pseudogene 32 pseudogene pseudogene Approved 15q21.3 15q21.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 32 2015-10-13 2018-05-30 2018-05-30 107075254 ENSG00000259379 OTTHUMG00000171998 NG_011975 PGOHUM00000293253 +HGNC:51952 MTND5P33 MT-ND5 pseudogene 33 pseudogene pseudogene Approved 16p13.13 16p13.13 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 33 2015-10-13 2018-05-30 2020-04-06 107075118 ENSG00000261904 OTTHUMG00000177346 NG_046533 PGOHUM00000293415 HGNC:51952 +HGNC:51953 MTND5P34 MT-ND5 pseudogene 34 pseudogene pseudogene Approved 16q12.2 16q12.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 34 2015-10-13 2018-05-30 2020-04-06 107075255 ENSG00000260147 OTTHUMG00000173134 NG_046534 PGOHUM00000293867 HGNC:51953 +HGNC:51954 MTND5P35 MT-ND5 pseudogene 35 pseudogene pseudogene Approved 14q31.2 14q31.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 35 2015-10-13 2018-05-30 2018-05-30 107075119 ENSG00000258923 OTTHUMG00000171376 PGOHUM00000292742 +HGNC:51955 MTND5P36 MT-ND5 pseudogene 36 pseudogene pseudogene Approved 9p24.1 09p24.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 36 2015-10-14 2018-05-30 2020-04-06 107133491 NG_046649 PGOHUM00000303718 HGNC:51955 +HGNC:51956 MTND5P37 MT-ND5 pseudogene 37 pseudogene pseudogene Approved 15q15.1 15q15.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 37 2015-10-14 2018-05-30 2018-05-30 107133493 NG_046651 PGOHUM00000292915 HGNC:51956 +HGNC:51957 MTND5P38 MT-ND5 pseudogene 38 pseudogene pseudogene Approved 11q14.1 11q14.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 38 2015-10-14 2018-05-30 2020-04-06 107133495 NG_046653 PGOHUM00000291055 HGNC:51957 +HGNC:51958 MTND5P39 MT-ND5 pseudogene 39 pseudogene pseudogene Approved Xq13.1 Xq13.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 39 2015-10-15 2018-05-30 2020-04-06 107133496 NG_046654 PGOHUM00000304684 HGNC:51958 +HGNC:51959 MTND5P40 MT-ND5 pseudogene 40 pseudogene pseudogene Approved 15q21.1 15q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 40 2015-10-28 2018-05-30 2020-04-06 107075256 ENSG00000259593 OTTHUMG00000172031 NG_054742 PGOHUM00000293232 HGNC:51959 +HGNC:51972 MTND5P41 MT-ND5 pseudogene 41 pseudogene pseudogene Approved 8p12 08p12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 41 2015-10-13 2018-05-30 2018-05-30 107075309 ENSG00000253685 OTTHUMG00000163976 NG_046535 HGNC:51972 +HGNC:52321 MTND5P42 MT-ND5 pseudogene 42 pseudogene pseudogene Approved 10q23.31 10q23.31 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 42 2016-07-22 2018-05-30 2020-04-06 109729157 ENSG00000283578 OTTHUMG00000191790 NG_052939 PGOHUM00000290245 HGNC:52321 +HGNC:52322 MTND5P43 MT-ND5 pseudogene 43 pseudogene pseudogene Approved 12p11.21 12p11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 43 2016-07-22 2018-05-30 2020-04-06 111188140 NG_055554 PGOHUM00000291602 HGNC:52322 +HGNC:52323 MTND5P44 MT-ND5 pseudogene 44 pseudogene pseudogene Approved 8q13.2 08q13.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 44 2016-07-22 2018-05-30 2020-04-06 112163614 NG_027682 PGOHUM00000303235 HGNC:52323 +HGNC:52333 MTND5P45 MT-ND5 pseudogene 45 pseudogene pseudogene Approved 19q13.12 19q13.12 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 45 2016-07-22 2018-05-30 2020-04-06 111188162 NG_055564 PGOHUM00000295352 HGNC:52333 +HGNC:52335 MTND5P46 MT-ND5 pseudogene 46 pseudogene pseudogene Approved 2q37.3 02q37.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 46 2016-07-22 2018-05-30 2020-04-06 112390311 NG_007286 PGOHUM00000298365 HGNC:52335 +HGNC:38730 MTND6P1 MT-ND6 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 "MTND6P1|MTND6 pseudogene 1|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 1" 2010-07-28 2018-05-30 2018-05-30 100499469 ENSG00000223955 OTTHUMG00000041270 NG_023537 PGOHUM00000305439 HGNC:38730 +HGNC:39465 MTND6P2 MT-ND6 pseudogene 2 pseudogene pseudogene Approved 5p15.31 05p15.31 "MTND6 pseudogene 2|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 2" 2011-01-18 2018-05-30 2018-05-30 106478941 ENSG00000250389 OTTHUMG00000161719 NG_043662 PGOHUM00000300489 HGNC:39465 +HGNC:39466 MTND6P3 MT-ND6 pseudogene 3 pseudogene pseudogene Approved 5q15 05q15 "MTND6 pseudogene 3|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 3" 2011-01-18 2018-05-30 2018-05-30 106478942 ENSG00000254132 OTTHUMG00000164091 NG_045534 PGOHUM00000300671 HGNC:39466 +HGNC:39467 MTND6P4 MT-ND6 pseudogene 4 pseudogene pseudogene Approved 5q31.1 05q31.1 "MTND6 pseudogene 4|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 4" 2011-01-18 2018-05-30 2018-05-30 106478943 ENSG00000249119 OTTHUMG00000163065 NG_045538 PGOHUM00000301125 HGNC:39467 +HGNC:39468 MTND6P5 MT-ND6 pseudogene 5 pseudogene pseudogene Approved 9p24.1 09p24.1 "MTND6 pseudogene 5|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 5" 2011-01-18 2018-05-30 2018-05-30 106480427 ENSG00000227730 OTTHUMG00000019484 NG_046969 PGOHUM00000304081 HGNC:39468 +HGNC:39469 MTND6P6 MT-ND6 pseudogene 6 pseudogene pseudogene Approved 3q13.12 03q13.12 "MTND6 pseudogene 6|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 6" 2011-01-18 2018-05-30 2018-05-30 106478944 ENSG00000240034 OTTHUMG00000159144 NG_043683 PGOHUM00000299116 HGNC:39469 +HGNC:39470 MTND6P7 MT-ND6 pseudogene 7 pseudogene pseudogene Approved 2p12 02p12 "MTND6 pseudogene 7|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 7" 2011-01-18 2018-05-30 2018-05-30 106478945 ENSG00000224695 OTTHUMG00000152964 NG_043693 PGOHUM00000297934 HGNC:39470 +HGNC:39471 MTND6P8 MT-ND6 pseudogene 8 pseudogene pseudogene Approved 2q21.1 02q21.1 "MTND6 pseudogene 8|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 8" 2011-01-18 2018-05-30 2018-05-30 106480726 ENSG00000248136 OTTHUMG00000153773 NG_043615 PGOHUM00000298110 HGNC:39471 +HGNC:39472 MTND6P9 MT-ND6 pseudogene 9 pseudogene pseudogene Approved 2q24.1 02q24.1 "MTND6 pseudogene 9|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 9" 2011-01-18 2018-05-30 2018-05-30 106478946 ENSG00000233248 OTTHUMG00000153813 NG_043698 PGOHUM00000298197 HGNC:39472 +HGNC:39473 MTND6P10 MT-ND6 pseudogene 10 pseudogene pseudogene Approved 2q21.1 02q21.1 "MTND6 pseudogene 10|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 10" 2011-01-18 2018-05-30 2018-05-30 106478947 ENSG00000227275 OTTHUMG00000153555 NG_045087 PGOHUM00000298722 HGNC:39473 +HGNC:39474 MTND6P11 MT-ND6 pseudogene 11 pseudogene pseudogene Approved 2q22.2 02q22.2 "MTND6 pseudogene 11|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 11" 2011-01-18 2018-05-30 2018-05-30 106480727 ENSG00000226839 OTTHUMG00000153842 NG_045077 PGOHUM00000298747 HGNC:39474 +HGNC:39475 MTND6P12 MT-ND6 pseudogene 12 pseudogene pseudogene Approved Xp22.32 Xp22.32 "MTND6 pseudogene 12|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 12" 2011-01-18 2018-05-30 2018-05-30 106481743 ENSG00000235039 OTTHUMG00000021089 NG_043561 PGOHUM00000304499 HGNC:39475 +HGNC:39476 MTND6P13 MT-ND6 pseudogene 13 pseudogene pseudogene Approved Xq22.1 Xq22.1 "MTND6 pseudogene 13|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 13" 2011-01-18 2018-05-30 2018-05-30 106480428 ENSG00000234901 OTTHUMG00000022047 NG_043280 PGOHUM00000304784 HGNC:39476 +HGNC:39477 MTND6P14 MT-ND6 pseudogene 14 pseudogene pseudogene Approved 1q42.3 01q42.3 "MTND6 pseudogene 14|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 14" 2011-01-18 2018-05-30 2018-05-30 106478948 ENSG00000235638 OTTHUMG00000040746 NG_043712 PGOHUM00000296820 HGNC:39477 +HGNC:39478 MTND6P15 MT-ND6 pseudogene 15 pseudogene pseudogene Approved 1q43 01q43 "MTND6 pseudogene 15|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 15" 2011-01-18 2018-05-30 2018-05-30 106478949 ENSG00000225723 OTTHUMG00000039590 NG_043720 PGOHUM00000296828 HGNC:39478 +HGNC:39479 MTND6P16 MT-ND6 pseudogene 16 pseudogene pseudogene Approved 4q13.1 04q13.1 "MTND6 pseudogene 16|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 16" 2011-01-18 2018-05-30 2018-05-30 106478950 ENSG00000249893 OTTHUMG00000162340 NG_043729 PGOHUM00000300228 HGNC:39479 +HGNC:39480 MTND6P17 MT-ND6 pseudogene 17 pseudogene pseudogene Approved 4q32.1 04q32.1 "MTND6 pseudogene 17|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 17" 2011-01-18 2018-05-30 2018-05-30 106480728 ENSG00000249770 OTTHUMG00000161806 NG_043629 PGOHUM00000300410 HGNC:39480 +HGNC:39481 MTND6P18 MT-ND6 pseudogene 18 pseudogene pseudogene Approved 13q32.1 13q32.1 "MTND6 pseudogene 18|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 18" 2011-01-18 2018-05-30 2018-05-30 106478951 ENSG00000227714 OTTHUMG00000017223 NG_041830 PGOHUM00000292030 HGNC:39481 +HGNC:39482 MTND6P19 MT-ND6 pseudogene 19 pseudogene pseudogene Approved 8p12 08p12 "MTND6 pseudogene 19|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 19" 2011-01-18 2018-05-30 2018-05-30 106481788 ENSG00000254384 OTTHUMG00000163975 NG_043902 PGOHUM00000303505 HGNC:39482 +HGNC:39483 MTND6P20 MT-ND6 pseudogene 20 pseudogene pseudogene Approved 8q11.1 08q11.1 "MTND6 pseudogene 20|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 20" 2011-01-18 2018-05-30 2018-05-30 106478952 ENSG00000254156 OTTHUMG00000164134 NG_043743 PGOHUM00000303533 HGNC:39483 +HGNC:39639 MTND6P21 MT-ND6 pseudogene 21 pseudogene pseudogene Approved 21q22.3 21q22.3 "MTND6 pseudogene 21|mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 21" 2011-03-17 2018-05-30 2018-05-30 100873332 ENSG00000223431 OTTHUMG00000040843 NG_032332 HGNC:39639 +HGNC:51978 MTND6P22 MT-ND6 pseudogene 22 pseudogene pseudogene Approved 5q21.1 05q21.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 22 2015-10-13 2018-05-30 2018-05-30 107075261 ENSG00000270230 OTTHUMG00000185127 NG_046536 PGOHUM00000301077 HGNC:51978 +HGNC:51981 MTND6P23 MT-ND6 pseudogene 23 pseudogene pseudogene Approved 15q21.3 15q21.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 23 2015-10-13 2018-05-30 2020-04-06 107133498 NG_046656 PGOHUM00000292961 HGNC:51981 +HGNC:51982 MTND6P24 MT-ND6 pseudogene 24 pseudogene pseudogene Approved 7q31.1 07q31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 24 2015-10-13 2018-05-30 2018-05-30 107063611 ENSG00000232922 OTTHUMG00000155123 NG_046364 PGOHUM00000302395 HGNC:51982 +HGNC:51984 MTND6P25 MT-ND6 pseudogene 25 pseudogene pseudogene Approved 11q14.1 11q14.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 25 2015-10-19 2018-05-30 2018-05-30 107075262 ENSG00000255316 OTTHUMG00000166828 NG_068459 PGOHUM00000290605 +HGNC:51985 MTND6P26 MT-ND6 pseudogene 26 pseudogene pseudogene Approved 12p11.21 12p11.21 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 26 2015-10-28 2018-05-30 2020-04-06 107133500 NG_046658 PGOHUM00000291279 HGNC:51985 +HGNC:51986 MTND6P27 MT-ND6 pseudogene 27 pseudogene pseudogene Approved 14q31.2 14q31.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 27 2015-10-28 2018-05-30 2020-04-06 107133501 NG_046659 PGOHUM00000292430 HGNC:51986 +HGNC:51987 MTND6P28 MT-ND6 pseudogene 28 pseudogene pseudogene Approved 16q23.3 16q23.3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 28 2015-10-13 2018-05-30 2018-05-30 107133503 NG_046660 PGOHUM00000293911 HGNC:51987 +HGNC:51988 MTND6P29 MT-ND6 pseudogene 29 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 29 2015-10-13 2018-05-30 2020-04-06 107133504 ENSG00000283311 OTTHUMG00000191725 NG_046661 PGOHUM00000302200 HGNC:51988 +HGNC:51989 MTND6P30 MT-ND6 pseudogene 30 pseudogene pseudogene Approved 8q13.2 08q13.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 30 2015-10-13 2018-05-30 2020-04-06 107133505 NG_027682 PGOHUM00000303580 HGNC:51989 +HGNC:51990 MTND6P31 MT-ND6 pseudogene 31 pseudogene pseudogene Approved Xq13.1 Xq13.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 31 2015-10-13 2018-05-30 2020-04-06 107133507 NG_046663 PGOHUM00000305129 HGNC:51990 +HGNC:52173 MTND6P32 MT-ND6 pseudogene 32 pseudogene pseudogene Approved Xq22.1 Xq22.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 32 2015-10-27 2018-05-30 2020-04-06 107075200 ENSG00000227649 OTTHUMG00000022065 NG_046537 HGNC:52173 +HGNC:52175 MTND6P33 MT-ND6 pseudogene 33 pseudogene pseudogene Approved 16p13.13 16p13.13 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 33 2015-10-27 2018-05-30 2020-04-06 107075298 ENSG00000262107 OTTHUMG00000177345 NG_046538 HGNC:52175 +HGNC:52325 MTND6P34 MT-ND6 pseudogene 34 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 34 2016-07-22 2018-05-30 2020-04-06 112268489 NG_066010 PGOHUM00000294355 HGNC:52325 +HGNC:52326 MTND6P35 MT-ND6 pseudogene 35 pseudogene pseudogene Approved 17p11.2 17p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 35 2016-07-22 2018-05-30 2020-04-06 112163686 ENSG00000283879 OTTHUMG00000191891 NG_066002 PGOHUM00000294014 HGNC:52326 +HGNC:52327 MTND6P36 MT-ND6 pseudogene 36 pseudogene pseudogene Approved 7p11.2 07p11.2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 36 2016-07-22 2018-05-30 2018-05-30 PGOHUM00000302197 +HGNC:52328 MTND6P37 MT-ND6 pseudogene 37 pseudogene pseudogene Approved 13q31.1 13q31.1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 pseudogene 37 2016-07-22 2018-05-30 2020-04-06 112340375 NG_066019 PGOHUM00000292012 HGNC:52328 +HGNC:7463 MTNR1A melatonin receptor 1A protein-coding gene gene with protein product Approved 4q35.2 04q35.2 MEL-1A-R Melatonin receptors 209 1995-03-22 2016-10-25 4543 ENSG00000168412 OTTHUMG00000185575 uc003izd.2 NM_005958 CCDS3848 P48039 7558006 MGI:102967 RGD:620797 600665 objectId:287 HGNC:7463 "ENST00000307161.5|NM_005958.4" +HGNC:7464 MTNR1B melatonin receptor 1B protein-coding gene gene with protein product Approved 11q14.3 11q14.3 Melatonin receptors 209 1995-06-13 2016-10-05 4544 ENSG00000134640 OTTHUMG00000167364 uc001pdk.2 AB033598 NM_005959 CCDS8290 P49286 MGI:2181726 RGD:620798 600804 objectId:288 HGNC:7464 "ENST00000257068.3|NM_005959.5" +HGNC:19261 MTO1 mitochondrial tRNA translation optimization 1 protein-coding gene gene with protein product Approved 6q13 06q13 mitochondrial translation optimization 1 homolog (S. cerevisiae) 2003-05-21 2013-05-07 2021-05-26 25821 ENSG00000135297 OTTHUMG00000015032 uc003pgz.5 AF132937 NM_012123 "CCDS4979|CCDS47452|CCDS34485" Q9Y2Z2 "12011058|22608499" MGI:1915541 RGD:1308830 614667 317756 HGNC:19261 "ENST00000498286.6|NM_012123.4" HGNC:19261 +HGNC:3942 MTOR mechanistic target of rapamycin kinase protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "RAFT1|RAPT1|FLJ44809" "FK506 binding protein 12-rapamycin associated protein 2|rapamycin target protein|FKBP12-rapamycin complex-associated protein 1|FKBP-rapamycin associated protein|rapamycin associated protein FRAP2|dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)|rapamycin and FKBP12 target 1|mammalian target of rapamycin" "FRAP|FRAP2|FRAP1" "FK506 binding protein 12-rapamycin associated protein 1|mechanistic target of rapamycin (serine/threonine kinase)|mechanistic target of rapamycin" "MTOR complex 1|MTOR complex 2|Armadillo like helical domain containing" "1332|1333|1492" 1995-07-18 2009-05-29 2017-08-04 2021-05-26 2475 ENSG00000198793 OTTHUMG00000002001 uc001asd.4 L34075 NM_004958 CCDS127 P42345 "8008069|8660990" MGI:1928394 RGD:68371 LRG_734|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_734.xml MTOR 601231 431220 objectId:2109 HGNC:3942 "ENST00000361445.9|NM_004958.4" HGNC:3942 +HGNC:40242 MTOR-AS1 MTOR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 MTOR antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100873935 ENSG00000225602 OTTHUMG00000002003 uc031plf.2 NR_046600 MTOR-AS1 HGNC:40242 +HGNC:25532 MTPAP mitochondrial poly(A) polymerase protein-coding gene gene with protein product Approved 10p11.23 10p11.23 "FLJ10486|SPAX4|TENT6" TUTase1 PAPD1 PAP associated domain containing 1 "Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "1318|1619" 2004-04-07 2009-01-12 2009-01-12 2021-05-26 55149 ENSG00000107951 OTTHUMG00000017895 uc001iva.5 AL122121 NM_018109 CCDS7165 Q9NVV4 "12239557|15769737|15547249" MGI:1914690 RGD:1310900 613669 311271 HGNC:25532 "ENST00000263063.9|NM_018109.4" HGNC:25532 +HGNC:15667 MTPN myotrophin protein-coding gene gene with protein product Approved 7q33 07q33 "MYOTROPHIN|GCDP|V-1" granule cell differentiation protein Ankyrin repeat domain containing 403 2001-08-16 2016-10-05 136319 ENSG00000105887 OTTHUMG00000155627 uc003vte.5 AC015987 NM_145808 CCDS5842 P58546 11474205 MGI:99445 RGD:619806 606484 HGNC:15667 "ENST00000393085.4|NM_145808.4" +HGNC:7468 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase protein-coding gene gene with protein product Approved 1q43 01q43 cblG Methionine synthase "Methyltransferase families|Homocysteine methyltransferases" "1398|2065" 1986-01-01 2018-07-04 4548 ENSG00000116984 OTTHUMG00000040060 uc001hyi.5 U73338 NM_000254 "CCDS73054|CCDS1614" Q99707 8968735 MGI:894292 RGD:621283 MTR database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MTR 156570 123572 objectId:3099 2.1.1.13 HGNC:7468 "ENST00000366577.10|NM_000254.3" HGNC:7468 +HGNC:17971 MTRES1 mitochondrial transcription rescue factor 1 protein-coding gene gene with protein product Approved 6q21 06q21 "HSPC230|PRED31" C6orf203 chromosome 6 open reading frame 203 2003-08-21 2019-06-24 2019-06-24 2019-08-19 51250 ENSG00000130349 OTTHUMG00000015307 uc003prq.5 AF151064 NM_016487 "CCDS78167|CCDS5058" Q9P0P8 "31226201|31396629" MGI:1915101 RGD:1597785 618583 HGNC:17971 "ENST00000311381.8|NM_016487.5" +HGNC:54502 MTRES1P1 MTRES1 pseudogene 1 pseudogene pseudogene Approved 6q25.2 06q25.2 2019-08-28 2019-08-28 100129996 ENSG00000220181 OTTHUMG00000015874 NG_022378 PGOHUM00000306602 HGNC:54502 +HGNC:18734 MTREX Mtr4 exosome RNA helicase protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "Mtr4|Dob1|fSAP118" functional spliceosome-associated protein 118 "KIAA0052|SKIV2L2" "KIAA0052|superkiller viralicidic activity 2-like 2 (S. cerevisiae)|Ski2 like RNA helicase 2" "Nuclear exosome targeting complex|Ski2 like RNA helicases" "1316|1559" 2004-07-02 2017-11-24 2017-11-24 2017-11-24 23517 ENSG00000039123 OTTHUMG00000097019 uc003jpy.5 D29641 NM_015360 CCDS3967 P42285 "16782053|21855801" MGI:1919448 RGD:1305984 618122 3.6.4.13 HGNC:18734 "ENST00000230640.10|NM_015360.5" +HGNC:7469 MTRF1 mitochondrial translation release factor 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "RF1|MTTRF1|MGC47721" mitochontrial peptide chain release factor 1 mitochondrial translational release factor 1 Mitochondrial translation release factor family 2044 1999-06-03 2016-09-27 2020-12-10 9617 ENSG00000120662 OTTHUMG00000016790 uc001uxy.4 AF072934 NM_004294 CCDS9378 O75570 "9838146|10773675" MGI:2384815 RGD:1584329 604601 HGNC:7469 "ENST00000379480.9|NM_004294.4" +HGNC:21051 MTRF1L mitochondrial translation release factor 1 like protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "HMRF1L|mtRF1a" mitochondrial translational release factor 1 like Mitochondrial translation release factor family 2044 2003-05-12 2016-04-25 2021-01-07 2021-01-07 54516 ENSG00000112031 OTTHUMG00000015857 uc003qpi.5 BC011873 NM_019041 "CCDS75540|CCDS47502|CCDS5243" Q9UGC7 20421313 MGI:1918830 RGD:1598312 613542 HGNC:21051 "ENST00000367233.10|NM_019041.7" +HGNC:50611 MTRF1LP1 mitochondrial translational release factor 1 like pseudogene 1 pseudogene pseudogene Approved 11q23.2 11q23.2 mitochondrial translational release factor 1-like pseudogene 1 2014-05-27 2015-11-23 2015-11-23 100132520 ENSG00000256091 OTTHUMG00000168189 NG_021834 PGOHUM00000242895 HGNC:50611 +HGNC:50612 MTRF1LP2 mitochondrial translational release factor 1 like pseudogene 2 pseudogene pseudogene Approved 8q24.21 08q24.21 mitochondrial translational release factor 1-like pseudogene 2 2014-05-27 2015-11-23 2015-11-23 100130376 ENSG00000224110 OTTHUMG00000160430 NG_022437 PGOHUM00000249799 HGNC:50612 +HGNC:26784 MTRFR mitochondrial translation release factor in rescue protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ38663|SPG55|COXPD7|mtRF-R" C12orf65 chromosome 12 open reading frame 65 Mitochondrial translation release factor family 2044 2007-02-26 2021-01-07 2021-01-07 2022-01-13 91574 ENSG00000130921 OTTHUMG00000168852 uc001uen.4 AK095982 NM_152269 CCDS9244 Q9H3J6 "33243891|31896602|20598281|23188110|26380172" MGI:1919900 RGD:1563482 613541 242929 HGNC:26784 "ENST00000253233.6|NM_152269.5" HGNC:26784 +HGNC:37155 MTRNR2L1 MT-RNR2 like 1 (pseudogene) pseudogene pseudogene Approved 17p11.2 17p11.2 humanin-like 1 MT-RNR2 like 1 2010-06-29 2021-10-28 2021-10-28 100462977 ENSG00000256618 OTTHUMG00000179068 uc002gzb.3 CR612552 NG_077217 CCDS54097 P0CJ68 19477263 616985 HGNC:37155 "ENST00000540040.3|NM_001190452.2" +HGNC:37156 MTRNR2L2 MT-RNR2 like 2 (pseudogene) pseudogene pseudogene Approved 5q14.1 05q14.1 humanin-like 2 MT-RNR2 like 2 2010-06-29 2021-10-28 2021-10-28 100462981 ENSG00000271043 OTTHUMG00000184945 NG_077201 P0CJ69 19477263 HGNC:37156 +HGNC:37157 MTRNR2L3 MT-RNR2 like 3 (pseudogene) pseudogene pseudogene Approved 20q13.31 20q13.31 humanin-like 3 MT-RNR2 like 3 2010-06-29 2021-10-28 2021-10-28 100462983 ENSG00000256222 OTTHUMG00000184962 uc021wfd.2 NG_077247 CCDS54476 P0CJ70 19477263 HGNC:37157 "ENST00000543500.3|NM_001190472.2" +HGNC:37161 MTRNR2L4 MT-RNR2 like 4 (pseudogene) pseudogene pseudogene Approved 16p13.3 16p13.3 humanin-like 4 "MT-RNR2-like 4|MT-RNR2 like 4" 2010-06-29 2021-10-28 2021-10-28 100463285 ENSG00000232196 OTTHUMG00000184964 uc021tce.2 NG_077248 CCDS53985 P0CJ71 19477263 HGNC:37161 "ENST00000399974.5|NM_001190476.2" +HGNC:37162 MTRNR2L5 MT-RNR2 like 5 (pseudogene) pseudogene pseudogene Approved 10q21.1 10q21.1 humanin-like 5 MT-RNR2 like 5 2010-06-29 2021-10-28 2021-10-28 100463289 ENSG00000249860 OTTHUMG00000184965 uc021pra.2 NG_077249 CCDS53537 P0CJ72 19477263 HGNC:37162 "ENST00000512524.4|NM_001190478.2" +HGNC:37163 MTRNR2L6 MT-RNR2 like 6 (pseudogene) pseudogene pseudogene Approved 7q34 07q34 humanin-like 6 MT-RNR2 like 6 2010-06-29 2021-10-28 2021-10-28 100463482 ENSG00000270672 OTTHUMG00000184977 uc003vzz.3 NG_077210 CCDS64784 P0CJ73 19477263 HGNC:37163 +HGNC:37164 MTRNR2L7 MT-RNR2 like 7 (pseudogene) pseudogene pseudogene Approved 10p11.21 10p11.21 humanin-like 7 MT-RNR2 like 7 2010-06-29 2021-10-28 2021-10-28 100288485 ENSG00000256892 OTTHUMG00000184979 uc021ppd.2 NG_077212 CCDS53524 P0CJ74 19477263 MGI:5295700 HGNC:37164 +HGNC:37165 MTRNR2L8 MT-RNR2 like 8 (pseudogene) pseudogene pseudogene Approved 11p15.4 11p15.4 humanin-like 8 MT-RNR2 like 8 MicroRNA protein coding host genes 1691 2010-06-29 2021-10-28 2021-10-28 100463486 ENSG00000255823 OTTHUMG00000184980 uc001miq.5 NG_077258 CCDS53602 P0CJ75 19477263 HGNC:37165 "ENST00000536684.3|NM_001190702.2" +HGNC:37166 MTRNR2L9 MT-RNR2 like 9 (pseudogene) pseudogene pseudogene Approved 6q11.1 06q11.1 "MT-RNR2-like 9 (pseudogene)|MT-RNR2 like 9" 2010-06-29 2021-10-28 2021-10-28 100463487 ENSG00000255633 OTTHUMG00000177605 NG_029631 P0CJ76 19477263 HGNC:37166 +HGNC:37167 MTRNR2L10 MT-RNR2 like 10 (pseudogene) pseudogene pseudogene Approved Xp11.21 Xp11.21 humanin-like 10 MT-RNR2 like 10 2010-06-29 2021-10-28 2021-10-28 100463488 ENSG00000256045 OTTHUMG00000184991 uc022bxr.2 NG_077259 CCDS55427 P0CJ77 19477263 HGNC:37167 "ENST00000545075.3|NM_001190708.2" +HGNC:37168 MTRNR2L11 MT-RNR2 like 11 (pseudogene) pseudogene pseudogene Approved 1q43 01q43 "MT-RNR2-like 11 (pseudogene)|MT-RNR2 like 11" 2010-06-29 2021-10-28 2021-10-28 100463489 ENSG00000270188 OTTHUMG00000184992 uc057qqv.1 NG_023152 S4R3Y5 19477263 HGNC:37168 +HGNC:37169 MTRNR2L12 MT-RNR2 like 12 (pseudogene) pseudogene pseudogene Approved 3q11.2 03q11.2 "humanin-like 12|HN12 lncRNA" "MT-RNR2-like 12 (pseudogene)|MT-RNR2 like 12" 2010-06-29 2021-10-28 2021-10-28 100463498 ENSG00000269028 OTTHUMG00000175726 uc062lty.1 NG_023159 P0DMP1 "19477263|27853370" HGNC:37169 +HGNC:37170 MTRNR2L13 MT-RNR2 like 13 (pseudogene) pseudogene pseudogene Approved 4q26 04q26 humanin-like 13 "MT-RNR2-like 13 (pseudogene)|MT-RNR2 like 13" 2010-06-29 2021-10-28 2021-10-28 100463500 ENSG00000270394 OTTHUMG00000184994 uc021xqy.2 NG_023160 S4R3P1 19477263 HGNC:37170 +HGNC:7473 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase protein-coding gene gene with protein product Approved 5p15.31 05p15.31 cblE Methionine synthase reductase 1998-04-20 2018-07-04 4552 ENSG00000124275 OTTHUMG00000090477 uc003jee.5 AF025794 NM_001364440 CCDS47190 Q9UBK8 9501215 MGI:1891037 RGD:1308671 MTRR database at LOVD-China|http://www.genomed.org/lovd/mma/home.php?select_db=MTRR 602568 123574 1.16.1.8 HGNC:7473 "ENST00000440940.7|NM_002454.3" HGNC:7473 +HGNC:20443 MTSS1 MTSS I-BAR domain containing 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "KIAA0429|MIMA|MIMB|MIM" missing in metastasis "metastasis suppressor 1|MTSS1, I-BAR domain containing" I-BAR domain containing 1287 2003-03-11 2019-01-22 2019-01-22 9788 ENSG00000170873 OTTHUMG00000048189 uc003yrk.4 AF086645 NM_014751 "CCDS64969|CCDS64968|CCDS6353" O43312 "12482861|12082544" MGI:2384818 RGD:1309883 608486 HGNC:20443 "ENST00000518547.6|NM_014751.6" +HGNC:25094 MTSS2 MTSS I-BAR domain containing 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "ABBA-1|LOC92154|ABBA" actin-bundling protein with BAIAP2 homology MTSS1L "metastasis suppressor 1 like|MTSS1L, I-BAR domain containing" I-BAR domain containing 1287 2008-12-05 2019-01-22 2019-01-22 2019-01-22 92154 ENSG00000132613 OTTHUMG00000177023 uc002ezj.4 NM_138383 CCDS32476 Q765P7 20875796 MGI:3039591 RGD:1309731 616951 HGNC:25094 "ENST00000338779.11|NM_138383.3" +HGNC:7467 MTTP microsomal triglyceride transfer protein protein-coding gene gene with protein product Approved 4q23 04q23 ABL MTP "microsomal triglyceride transfer protein (large polypeptide, 88kD)|microsomal triglyceride transfer protein (large polypeptide, 88kDa)" 1994-12-07 2005-11-04 2005-11-04 2021-09-15 4547 ENSG00000138823 OTTHUMG00000131023 uc003hvc.5 NM_000253 CCDS3651 P55157 8111381 MGI:106926 RGD:1308388 157147 123576 HGNC:7467 "ENST00000265517.10|NM_001386140.1" HGNC:7467 +HGNC:25457 MTURN maturin, neural progenitor differentiation regulator homolog protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "FLJ25903|Ells1" C7orf41 "chromosome 7 open reading frame 41|maturin, neural progenitor differentiation regulator homolog (Xenopus)" 2006-08-08 2013-10-07 2016-07-26 2016-10-05 222166 ENSG00000180354 OTTHUMG00000128559 NM_152793 CCDS5425 Q8N3F0 24095902 MGI:1915485 RGD:1549700 HGNC:25457 "ENST00000324453.13|NM_152793.3" +HGNC:29789 MTUS1 microtubule associated scaffold protein 1 protein-coding gene gene with protein product Approved 8p22 08p22 "MTSG1|KIAA1288|DKFZp586D1519|FLJ14295|ATIP1|MP44|ATBP|ICIS|ATIP3" "AT2 receptor-interacting protein|AT2R binding protein|mitochondrial tumor suppressor gene 1" "mitochondrial tumor suppressor 1|microtubule associated tumor suppressor 1" MicroRNA protein coding host genes 1691 2004-04-05 2017-02-14 2018-11-16 57509 ENSG00000129422 OTTHUMG00000163756 uc003wxt.4 AL096842 NM_001001924 "CCDS83254|CCDS43717|CCDS43716|CCDS43718|CCDS43719|CCDS55204" Q9ULD2 "10574462|12692079|20889352" MGI:2142572 RGD:631381 609589 HGNC:29789 "ENST00000693296.1|NM_001363059.2" +HGNC:55525 MTUS1-DT MTUS1 divergent transcript non-coding RNA RNA, long non-coding Approved 8p22 08p22 Divergent transcripts 1990 2021-03-18 2021-03-18 101930275 ENSG00000253944 +HGNC:20595 MTUS2 microtubule associated scaffold protein 2 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "TIP150|CAZIP|ICIS" "+TIP of 150 kDa|cardiac zipper protein" KIAA0774 "KIAA0774|microtubule associated tumor suppressor candidate 2" 2003-11-21 2009-10-20 2017-02-14 2018-11-16 23281 ENSG00000132938 OTTHUMG00000016657 uc001usm.5 AB018317 NM_001033602 CCDS41874 Q5JR59 "19543227|20889352" MGI:1915388 RGD:1562533 619358 HGNC:20595 "ENST00000612955.6|NM_001033602.4" +HGNC:40924 MTUS2-AS1 MTUS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 MTUS2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-09 2012-08-15 2014-11-19 100874107 ENSG00000179141 OTTHUMG00000016656 uc001usn.4 NR_046378 MTUS2-AS1 HGNC:40924 +HGNC:40923 MTUS2-AS2 MTUS2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 MTUS2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-09 2012-08-15 2014-11-19 100874106 ENSG00000236758 OTTHUMG00000016655 uc058wcq.1 MTUS2-AS2 +HGNC:7504 MTX1 metaxin 1 protein-coding gene gene with protein product Approved 1q22 01q22 MTXN MTX Metaxins 1682 1999-07-14 2016-10-05 4580 ENSG00000173171 OTTHUMG00000035708 uc001fjb.4 NM_198883 "CCDS1101|CCDS1100" Q13505 7753840 MGI:103025 RGD:1559791 600605 HGNC:7504 "ENST00000368376.8|NM_002455.5" +HGNC:7505 MTX1P1 metaxin 1 pseudogene 1 pseudogene pseudogene Approved 1q22 01q22 "MTXP|MTX1P" metaxin 1 pseudogene 1999-07-14 2010-02-26 2010-02-26 2014-11-19 4581 ENSG00000236675 OTTHUMG00000035843 U46921 NG_001160 7753840 PGOHUM00000245012 HGNC:7505 +HGNC:7506 MTX2 metaxin 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 Metaxins 1682 1999-07-14 2014-11-19 10651 ENSG00000128654 OTTHUMG00000132514 uc002ukx.4 AF053551 NM_006554 CCDS2272 O75431 "10381257|17624330" MGI:1859652 RGD:1306473 608555 HGNC:7506 "ENST00000249442.11|NM_006554.5" HGNC:7506 +HGNC:24812 MTX3 metaxin 3 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 Metaxins 1682 2004-08-18 2018-11-16 345778 ENSG00000177034 OTTHUMG00000162547 uc010jag.4 BX538064 NM_001010891 "CCDS47239|CCDS54872|CCDS87308" Q5HYI7 15087125 MGI:2686040 RGD:1583002 619336 HGNC:24812 "ENST00000512528.3|NM_001363818.2" +HGNC:7508 MUC1 mucin 1, cell surface associated protein-coding gene gene with protein product Approved 1q22 01q22 "CD227|PEM|ADMCKD|ADMCKD1|MCKD|MCD|KL-6|EMA|Ca15-3" epithelial membrane antigen "PUM|MCKD1" "mucin 1, transmembrane|medullary cystic kidney disease 1 (autosomal dominant)" "CD molecules|Mucins" "471|648" 1986-01-01 2006-03-14 2021-10-18 4582 ENSG00000185499 OTTHUMG00000035681 uc001fik.4 J05581 NM_002456 "CCDS30882|CCDS1098|CCDS72933|CCDS72934|CCDS72935|CCDS72936|CCDS55642|CCDS41409|CCDS41408|CCDS55641|CCDS55640|CCDS30883" P15941 "1697589|23396133" MGI:97231 RGD:3122 MUC1 158340 330730 S71.001 CD227 HGNC:7508 HGNC:7508 +HGNC:7512 MUC2 mucin 2, oligomeric mucus/gel-forming protein-coding gene gene with protein product Approved 11p15.5 11p15.5 mucin 2, intestinal/tracheal Mucins 648 1989-02-13 2006-03-14 2017-08-14 4583 ENSG00000198788 OTTHUMG00000156800 uc057xrp.1 L21998 NM_002457 Q02817 15081123 MGI:1339364 RGD:3123 158370 I08.951 HGNC:7512 +HGNC:7513 MUC3A mucin 3A, cell surface associated protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MUC3 mucin 3A, intestinal Mucins 648 1990-02-27 2006-03-14 2018-11-16 4584 ENSG00000169894 OTTHUMG00000157038 uc033aad.2 AF113616 NM_005960 CCDS78262 Q02505 "2393399|10973822" MGI:3588263 158371 HGNC:7513 "ENST00000379458.9|NM_005960.2" +HGNC:13384 MUC3B mucin 3B, cell surface associated protein-coding gene gene with protein product Approved 7q22 not on reference assembly 07q22 not on reference assembly mucin 3B Mucins 648 2000-09-27 2006-03-14 2015-02-09 57876 AJ291390 XM_047444977 Q9H195 10973822 605633 S71.002 +HGNC:7514 MUC4 mucin 4, cell surface associated protein-coding gene gene with protein product Approved 3q29 03q29 mucin 4, tracheobronchial Mucins 648 1991-05-22 2006-03-14 2014-11-18 4585 ENSG00000145113 OTTHUMG00000151827 uc021xjp.3 AJ276359 NM_018406 "CCDS54700|CCDS3310|CCDS3311" Q99102 1673336 MGI:2153525 RGD:621331 158372 HGNC:7514 "ENST00000463781.8|NM_018406.7" +HGNC:7515 MUC5AC mucin 5AC, oligomeric mucus/gel-forming protein-coding gene gene with protein product Approved 11p15.5 11p15.5 MUC5 mucin 5, subtypes A and C, tracheobronchial/gastric Mucins 648 1995-04-05 2006-03-14 2018-11-16 4586 ENSG00000215182 OTTHUMG00000154270 uc031xcx.2 "AJ001402|AJ298317" NM_001304359 CCDS76369 P98088 "7826332|9588204" MGI:104697 RGD:62001 158373 I08.951 HGNC:7515 "ENST00000621226.2|NM_001304359.2" +HGNC:7516 MUC5B mucin 5B, oligomeric mucus/gel-forming protein-coding gene gene with protein product Approved 11p15.5 11p15.5 MG1 MUC5 mucin 5, subtype B, tracheobronchial "Mucins|MicroRNA protein coding host genes" "648|1691" 1991-12-03 2006-03-14 2019-08-21 727897 ENSG00000117983 OTTHUMG00000166494 uc001lta.4 "U95031|AF086604" NM_002458 CCDS44515 Q9HC84 9804771 MGI:1921430 RGD:1561983 600770 268049 I08.953 HGNC:7516 "ENST00000529681.5|NM_002458.3" +HGNC:53936 MUC5B-AS1 MUC5B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 Antisense RNAs 1987 2018-06-15 2018-06-15 112577518 ENSG00000255177 OTTHUMG00000166615 NR_157183 29670111 HGNC:53936 +HGNC:7517 MUC6 mucin 6, oligomeric mucus/gel-forming protein-coding gene gene with protein product Approved 11p15.5 11p15.5 mucin 6, gastric Mucins 648 1992-09-29 2006-03-14 2018-11-16 4588 ENSG00000184956 OTTHUMG00000165140 uc001lsw.3 "U97698|AY312160" NM_005961 CCDS44513 Q6W4X9 7680650 MGI:2663233 RGD:628826 158374 HGNC:7517 "ENST00000421673.7|NM_005961.3" +HGNC:7518 MUC7 mucin 7, secreted protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "FLJ27047|MG2" mucin 7, salivary Mucins 648 1993-06-04 2006-03-14 2014-11-19 4589 ENSG00000171195 OTTHUMG00000129916 uc011cat.3 BC025688 NM_152291 CCDS3541 Q8TAX7 8838308 158375 HGNC:7518 "ENST00000304887.6|NM_152291.3" +HGNC:7519 MUC8 mucin 8 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 mucin 8, tracheobronchial Mucins 648 1995-05-15 2006-03-14 2020-04-20 100129528 U14383 XM_047429967 "8002930|9070607" 601932 HGNC:7519 +HGNC:7510 MUC12 mucin 12, cell surface associated protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MUC11 mucin 11 Mucins 648 1999-05-14 2006-03-14 2018-11-16 10071 ENSG00000205277 OTTHUMG00000157042 uc003uxo.4 "AF147790|AF147791" NM_001164462 CCDS55139 Q9UKN1 10463611 604609 HGNC:7510 "ENST00000536621.6|NM_001164462.2" +HGNC:40382 MUC12-AS1 MUC12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 Antisense RNAs 1987 2019-08-16 2019-08-16 102724094 ENSG00000227053 OTTHUMG00000157034 NR_120519 HGNC:40382 +HGNC:7511 MUC13 mucin 13, cell surface associated protein-coding gene gene with protein product Approved 3q21.2 03q21.2 DRCC1 "down-regulated in colon cancer 1|mucin 13, epithelial transmembrane" Mucins 648 2000-07-31 2006-03-14 2014-11-18 56667 ENSG00000173702 OTTHUMG00000159484 uc032sai.1 AF286113 NM_033049 CCDS33839 Q9H3R2 11278439 MGI:103190 RGD:708547 612181 HGNC:7511 "ENST00000616727.4|NM_033049.4" +HGNC:14956 MUC15 mucin 15, cell surface associated protein-coding gene gene with protein product Approved 11p14.2 11p14.2 Mucins 648 2001-11-26 2006-03-14 2020-04-01 143662 ENSG00000169550 OTTHUMG00000166112 uc001mqx.4 AJ417818 NM_145650 "CCDS44556|CCDS44557|CCDS7859" Q8N387 12047385 MGI:2442110 RGD:1589864 608566 HGNC:14956 "ENST00000529533.6|NM_001135091.2" +HGNC:15582 MUC16 mucin 16, cell surface associated protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "CA125|FLJ14303|CA-125" cancer antigen 125 Mucins 648 2001-07-20 2006-03-14 2020-12-09 94025 ENSG00000181143 OTTHUMG00000169191 uc002mkp.3 AF414442 NM_024690 CCDS54212 Q8WXI7 11369781 MGI:1920982 RGD:1308422 606154 HGNC:15582 +HGNC:16800 MUC17 mucin 17, cell surface associated protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Mucins 648 2001-12-04 2006-03-14 2016-10-05 140453 ENSG00000169876 OTTHUMG00000157030 uc003uxp.2 AJ606307 NM_001040105 CCDS34711 Q685J3 11855812 MGI:1203527 608424 HGNC:16800 "ENST00000306151.9|NM_001040105.2" +HGNC:14362 MUC19 mucin 19, oligomeric protein-coding gene gene with protein product Approved 12q12 12q12 FLJ35746 Mucins 648 2003-08-27 2006-03-14 2018-11-16 283463 ENSG00000205592 OTTHUMG00000060732 uc058msm.1 AY236870 NM_173600 Q7Z5P9 "12882755|18184611|17667140" MGI:2676278 RGD:1624205 612170 HGNC:14362 +HGNC:23282 MUC20 mucin 20, cell surface associated protein-coding gene gene with protein product Approved 3q29 03q29 "FLJ14408|KIAA1359" Mucins 648 2003-12-09 2006-03-14 2014-11-19 200958 ENSG00000176945 OTTHUMG00000155823 uc032soi.2 AB037780 NM_152673 CCDS63877 Q8N307 14565953 MGI:2385039 RGD:1304865 610360 HGNC:23282 "ENST00000447234.7|NM_001282506.2" +HGNC:53807 MUC20-OT1 MUC20 overlapping transcript non-coding RNA RNA, long non-coding Approved 3q29 03q29 Overlapping transcripts 1988 2018-01-12 2018-01-12 111753249 ENSG00000242086 +HGNC:51921 MUC20P1 mucin 20, cell surface associated pseudogene 1 pseudogene pseudogene Approved 3q29 03q29 2015-10-06 2015-10-06 651714 ENSG00000224769 OTTHUMG00000155856 NG_022290 PGOHUM00000299705 HGNC:51921 +HGNC:21661 MUC21 mucin 21, cell surface associated protein-coding gene gene with protein product Approved 6p21.33 06p21.33 bCX31G15.2 epiglycanin C6orf205 chromosome 6 open reading frame 205 Mucins 648 2004-01-16 2008-05-14 2008-05-14 2015-09-04 394263 ENSG00000204544 OTTHUMG00000031216 uc003nsh.3 AK056612 NM_001010909 CCDS34388 Q5SSG8 17977904 MGI:3779983 616991 HGNC:21661 "ENST00000376296.3|NM_001010909.5" +HGNC:39755 MUC22 mucin 22 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 PBMUCL1 panbronchiolitis related mucin-like 1 Mucins 648 2011-08-11 2015-09-04 100507679 ENSG00000261272 OTTHUMG00000133673 uc063mxr.1 NM_001198815 CCDS59003 E2RYF6 20981447 613917 HGNC:39755 +HGNC:30588 MUCL1 mucin like 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 SBEM small breast epithelial mucin 2007-07-02 2016-01-15 2020-04-01 118430 ENSG00000172551 OTTHUMG00000169815 uc001sgk.4 AF414087 NM_058173 CCDS8885 Q96DR8 12019145 MGI:98392 610857 HGNC:30588 "ENST00000308796.11|NM_058173.3" +HGNC:21666 MUCL3 mucin like 3 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "PBLT|bCX105N19.6|C6orf37" DPCR1 diffuse panbronchiolitis critical region 1 2004-02-03 2018-03-19 2018-03-19 2018-09-12 135656 ENSG00000168631 OTTHUMG00000031104 uc003nsg.3 AB064272 NM_080870 CCDS4692 Q3MIW9 "12185533|10677310" MGI:2685476 RGD:1303125 613928 183886 HGNC:21666 "ENST00000462446.6|NM_080870.4" +HGNC:25762 MUL1 mitochondrial E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "FLJ12875|MULAN|RNF218|MAPL|GIDE" "ring finger protein 218|mitochondria-anchored protein ligase|growth inhibition and death E3 ligase|mitochondrial ubiquitin ligase activator of NFKB 1" C1orf166 chromosome 1 open reading frame 166 Ring finger proteins 58 2005-07-19 2008-03-26 2010-09-17 2014-11-18 79594 ENSG00000090432 OTTHUMG00000002838 uc001bdi.5 BC014010 NM_024544 CCDS208 Q969V5 "18591963|12761501|18213395|18207745" MGI:1915600 RGD:1309944 612037 HGNC:25762 "ENST00000264198.5|NM_024544.3" +HGNC:49202 MUPP major urinary protein, pseudogene pseudogene pseudogene Approved 9q32 09q32 2013-10-07 2020-08-14 100129193 ENSG00000237906 OTTHUMG00000020511 NG_016729 23884334 HGNC:49202 +HGNC:29814 MUS81 MUS81 structure-specific endonuclease subunit protein-coding gene gene with protein product Approved 11q13 11q13 "FLJ44872|SLX3" SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae) "MUS81 endonuclease homolog (yeast)|MUS81 endonuclease homolog (S. cerevisiae)" 2004-01-27 2013-07-03 2019-08-20 80198 ENSG00000172732 OTTHUMG00000166633 uc001ofv.5 NM_025128 CCDS8115 Q96NY9 "11741546|12374758" MGI:1918961 RGD:1311957 606591 HGNC:29814 "ENST00000308110.9|NM_025128.5" +HGNC:7525 MUSK muscle associated receptor tyrosine kinase protein-coding gene gene with protein product Approved 9q31.3 09q31.3 muscle, skeletal, receptor tyrosine kinase "Receptor tyrosine kinases|I-set domain containing|Immunoglobulin like domain containing" "321|593|594" 1997-04-10 2016-04-19 2016-10-05 4593 ENSG00000030304 OTTHUMG00000020485 uc064vaj.1 AF006464 NM_001166280 "CCDS48005|CCDS75874" O15146 7546737 MGI:103581 RGD:3211 601296 160311 objectId:1847 HGNC:7525 "ENST00000374448.9|NM_005592.4" HGNC:7525 +HGNC:22144 MUSTN1 musculoskeletal, embryonic nuclear protein 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 Mustang 2004-03-10 2018-11-16 389125 ENSG00000272573 OTTHUMG00000159024 uc003dga.5 NM_205853 CCDS46846 Q8IVN3 MGI:1913425 RGD:727804 617195 HGNC:22144 "ENST00000446157.3|NM_205853.4" +HGNC:7527 MUTYH mutY DNA glycosylase protein-coding gene gene with protein product Approved 1p34.1 01p34.1 MYH mutY homolog (E. coli) DNA glycosylases 1024 1997-10-24 2015-06-23 2021-05-26 4595 ENSG00000132781 OTTHUMG00000007682 uc001cnm.4 U63329 NM_012222 "CCDS520|CCDS72777|CCDS41322|CCDS41321|CCDS72776" Q9UIF7 "7823963|10684930" MGI:1917853 RGD:620045 "MUTYH @ LOVD|http://www.LOVD.nl/MUTYH|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MUTYH|LRG_220|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_220.xml" MUTYH 604933 123585 HGNC:7527 "ENST00000456914.7|NM_001048174.2" HGNC:7527 +HGNC:25153 MVB12A multivesicular body subunit 12A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 FLJ32495 FAM125A family with sequence similarity 125, member A ESCRT-I 1116 2006-08-15 2012-12-03 2012-12-03 2014-11-19 93343 ENSG00000141971 OTTHUMG00000166252 uc060viu.1 BC011840 NM_138401 CCDS12359 Q96EY5 "18005716|20654576|22232651" MGI:1920961 RGD:735220 HGNC:25153 "ENST00000317040.12|NM_138401.4" +HGNC:23368 MVB12B multivesicular body subunit 12B protein-coding gene gene with protein product Approved 9q33.3 09q33.3 FLJ00001 "C9orf28|FAM125B" "chromosome 9 open reading frame 28|family with sequence similarity 125, member B" ESCRT-I 1116 2003-11-14 2012-12-03 2012-12-03 2018-11-16 89853 ENSG00000196814 OTTHUMG00000020687 uc004bqh.3 AK000001 NM_033446 "CCDS35142|CCDS48022" Q9H7P6 "18005716|20654576|22232651" MGI:1919793 RGD:1309709 HGNC:23368 "ENST00000361171.8|NM_033446.3" +HGNC:7529 MVD mevalonate diphosphate decarboxylase protein-coding gene gene with protein product Approved 16q24.2 16q24.2 MPD "mevalonate pyrophosphate decarboxylase|diphosphomevalonate decarboxylase" mevalonate (diphospho) decarboxylase 1997-12-05 2015-12-04 2016-10-05 4597 ENSG00000167508 OTTHUMG00000137865 uc002flg.2 U49260 NM_002461 CCDS10968 P53602 8626466 MGI:2179327 RGD:621292 603236 444568 objectId:642 4.1.1.33 HGNC:7529 "ENST00000301012.8|NM_002461.3" HGNC:7529 +HGNC:7530 MVK mevalonate kinase protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "LRBP|MK" "LH receptor mRNA-binding protein|mevalonic aciduria" mevalonate kinase (mevalonic aciduria) 1992-10-06 2008-01-30 2021-04-13 4598 ENSG00000110921 OTTHUMG00000169256 uc009zvk.4 M88468 NM_000431 "CCDS73522|CCDS9132" Q03426 1377680 MGI:107624 RGD:621295 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_156|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_156.xml" 251170 123588 objectId:640 2.7.1.36 HGNC:7530 "ENST00000228510.8|NM_000431.4" HGNC:7530 +HGNC:7531 MVP major vault protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "LRP|VAULT1" lung resistance-related protein 2000-07-31 2014-11-19 9961 ENSG00000013364 OTTHUMG00000048227 uc002duj.3 X79882 NM_005115 CCDS10656 Q14764 7585126 MGI:1925638 RGD:70932 605088 HGNC:7531 "ENST00000357402.10|NM_005115.5" +HGNC:56029 MVP-DT MVP divergent transcript non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 AC009133.12 Divergent transcripts 1990 2021-12-03 2021-12-03 123706527 ENSG00000238045 +HGNC:7532 MX1 MX dynamin like GTPase 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "IFI-78K|MxA|lncMX1-215" interferon-inducible protein p78 "myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)|myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)" 1988-05-11 2016-02-15 2020-01-09 4599 ENSG00000157601 OTTHUMG00000086755 uc002yzh.5 NM_001144925 "CCDS13673|CCDS74796" P20591 17570575 "MGI:97243|MGI:97244" RGD:628821 147150 HGNC:7532 "ENST00000398598.8|NM_002462.5" +HGNC:7533 MX2 MX dynamin like GTPase 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 MXB "interferon-regulated resistance GTP-binding protein MXB|second interferon-induced protein p78" "myxovirus (influenza) resistance 2, homolog of murine|myxovirus (influenza virus) resistance 2 (mouse)" 1988-08-12 2016-02-15 2016-02-15 4600 ENSG00000183486 OTTHUMG00000086753 uc002yzf.2 NM_002463 CCDS13672 P20592 "2481229|8798556" "MGI:97243|MGI:97244" 147890 HGNC:7533 "ENST00000330714.8|NM_002463.2" HGNC:7533 +HGNC:6761 MXD1 MAX dimerization protein 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "MAD1|bHLHc58" MAD "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 1994-02-16 2005-02-11 2016-10-05 4084 ENSG00000059728 OTTHUMG00000129646 uc010yqs.3 NM_002357 "CCDS56123|CCDS1896" Q05195 7829091 MGI:96908 RGD:1564525 600021 HGNC:6761 "ENST00000264444.7|NM_002357.4" +HGNC:14008 MXD3 MAX dimerization protein 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "MAD3|bHLHc13" "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 2002-11-12 2015-08-25 83463 ENSG00000213347 OTTHUMG00000130854 uc063kct.1 BC000745 NM_001142935 "CCDS4416|CCDS47347" Q9BW11 MGI:104987 RGD:628624 609450 HGNC:14008 "ENST00000439742.7|NM_031300.4" +HGNC:13906 MXD4 MAX dimerization protein 4 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "MAD4|MSTP149|MST149|bHLHc12" "Basic helix-loop-helix proteins|MAX dimerization proteins|MicroRNA protein coding host genes" "420|637|1691" 2002-11-12 2015-08-25 10608 ENSG00000123933 OTTHUMG00000090243 uc003geu.2 NM_006454 CCDS3361 Q14582 8521822 MGI:104991 RGD:1305093 HGNC:13906 "ENST00000337190.7|NM_006454.3" +HGNC:7534 MXI1 MAX interactor 1, dimerization protein protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "MXD2|MAD2|MXI|bHLHc11" "MAX interacting protein 1|MAX interactor 1" "Basic helix-loop-helix proteins|MAX dimerization proteins" "420|637" 1994-02-16 2012-11-15 2016-10-05 4601 ENSG00000119950 OTTHUMG00000019033 uc001kyy.3 BC016678 NM_130439 "CCDS7563|CCDS31284|CCDS7564" P50539 7959753 MGI:97245 RGD:3128 600020 HGNC:7534 "ENST00000332674.9|NM_130439.3" +HGNC:7539 MXRA5 matrix remodeling associated 5 protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 DKFZp564I1922 adlican matrix-remodelling associated 5 I-set domain containing 593 2000-06-15 2016-05-13 2020-04-02 25878 ENSG00000101825 OTTHUMG00000021083 uc004crg.6 AF245505 NM_015419 CCDS14124 Q9NR99 12101425 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MXRA5 300938 HGNC:7539 "ENST00000217939.7|NM_015419.4" +HGNC:23932 MXRA5Y matrix remodeling associated 5 Y-linked (pseudogene) pseudogene pseudogene Approved Yq11.21 Yq11.21 ADLICANP adlican pseudogene "MXRA5P|MXRA5P1" "matrix-remodelling associated 5 pseudogene|matrix-remodelling associated 5 pseudogene 1" 2007-07-25 2014-05-07 2018-04-30 2018-04-30 286544 ENSG00000235649 OTTHUMG00000036377 NG_002806 12815422 PGOHUM00000233951 HGNC:23932 +HGNC:7541 MXRA7 matrix remodeling associated 7 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ46603|TMAP1|PS1TP1" matrix-remodelling associated 7 2000-06-15 2016-05-13 2019-08-21 439921 ENSG00000182534 OTTHUMG00000180370 uc002jsk.2 BC053983 NM_001008529 "CCDS32745|CCDS32746|CCDS86640|CCDS45786" P84157 MGI:1914872 RGD:1594666 HGNC:7541 "ENST00000449428.7|NM_198530.4" +HGNC:54643 MXRA7P1 MXRA7 pseudogene 1 pseudogene pseudogene Approved 2q24.2 02q24.2 2019-10-31 2019-11-06 100506055 ENSG00000232320 NG_029258 +HGNC:7542 MXRA8 matrix remodeling associated 8 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 DKFZp586E2023 limitrin matrix-remodelling associated 8 V-set domain containing 590 2000-06-15 2016-05-13 2016-05-13 54587 ENSG00000162576 OTTHUMG00000002973 uc001aew.5 BC006213 NM_032348 "CCDS59950|CCDS59951|CCDS59952|CCDS24" Q9BRK3 14603461 MGI:1922011 RGD:1359356 617293 HGNC:7542 "ENST00000309212.11|NM_032348.4" +HGNC:7544 MYADM myeloid associated differentiation marker protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MARVEL domain containing 1626 1998-09-22 2016-06-22 2016-06-22 91663 ENSG00000179820 OTTHUMG00000060775 uc002qcl.4 AF087882 NM_138373 CCDS12866 Q96S97 "10733104|12075932" MGI:1355332 RGD:727835 609959 HGNC:7544 "ENST00000391770.9|NM_138373.5" +HGNC:40384 MYADM-AS1 MYADM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 Antisense RNAs 1987 2019-08-16 2019-08-16 105372457 ENSG00000228323 OTTHUMG00000060780 XR_007067337 HGNC:40384 +HGNC:31019 MYADML myeloid associated differentiation marker like (pseudogene) pseudogene pseudogene Approved 2p22.3 02p22.3 myeloid-associated differentiation marker-like MARVEL domain containing 1626 2004-01-19 2016-06-22 2016-06-22 151325 ENSG00000239649 OTTHUMG00000099399 XM_087171 PGOHUM00000297831 HGNC:31019 +HGNC:34548 MYADML2 myeloid associated differentiation marker like 2 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 LOC255275 MARVEL domain containing 1626 2008-10-15 2016-06-22 2016-06-22 255275 ENSG00000185105 OTTHUMG00000154388 uc010wvf.1 "AC137723|BC029306" XR_041347 CCDS45815 A6NDP7 MGI:1915765 RGD:1311499 HGNC:34548 "ENST00000409745.2|NM_001145113.3" +HGNC:7545 MYB MYB proto-oncogene, transcription factor protein-coding gene gene with protein product Approved 6q23.3 06q23.3 c-myb v-myb avian myeloblastosis viral oncogene homolog Myb/SANT domain containing 532 2001-06-22 2016-03-01 2016-10-05 4602 ENSG00000118513 OTTHUMG00000015629 uc063rpp.1 NM_001130172 "CCDS55061|CCDS55058|CCDS55059|CCDS55060|CCDS55062|CCDS47482|CCDS47481|CCDS5174" P10242 17599807 MGI:97249 RGD:1560020 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=MYB MYB 189990 263765 HGNC:7545 "ENST00000341911.10|NM_001130173.2" +HGNC:37457 MYB-AS1 MYB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22-q23 06q22-q23 "RP1-32B1.3|NCRNA00209" non-protein coding RNA 209 "MYBAS|MYB-AS" "MYB antisense RNA (non-protein coding)|MYB antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-10-15 2010-11-25 2012-08-15 2012-10-12 100873904 ENSG00000236703 OTTHUMG00000015627 uc063rqo.1 MYB-AS1 +HGNC:7546 MYBBP1A MYB binding protein 1a protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "P160|PAP2|FLJ37886|Pol5" p53-activated protein-2 MYB binding protein (P160) 1a "Armadillo like helical domain containing|B-WICH chromatin-remodelling complex subunits" "1492|1787" 1999-06-25 2016-03-31 2017-05-26 10514 ENSG00000132382 OTTHUMG00000090747 uc002fyb.5 AF147709 NM_014520 "CCDS42238|CCDS11046" Q9BQG0 10644447 MGI:106181 RGD:62062 604885 HGNC:7546 "ENST00000254718.9|NM_014520.4" +HGNC:7547 MYBL1 MYB proto-oncogene like 1 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "AMYB|A-myb" v-myb avian myeloblastosis viral oncogene homolog-like 1 Myb/SANT domain containing 532 1991-09-13 2016-03-01 2018-11-16 4603 ENSG00000185697 OTTHUMG00000164559 uc003xwj.4 X13294 NM_001080416 "CCDS55241|CCDS47867" P10243 MGI:99925 RGD:1306940 159405 HGNC:7547 "ENST00000522677.8|NM_001080416.4" +HGNC:7548 MYBL2 MYB proto-oncogene like 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "BMYB|B-MYB" v-myb avian myeloblastosis viral oncogene homolog-like 2 Myb/SANT domain containing 532 1991-09-13 2016-03-01 2016-10-05 4605 ENSG00000101057 OTTHUMG00000033062 uc002xlb.3 NM_002466 "CCDS63276|CCDS13322" P10244 8812502 MGI:101785 RGD:1308474 601415 HGNC:7548 "ENST00000217026.5|NM_002466.4" +HGNC:7549 MYBPC1 myosin binding protein C1 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 ssMyBP-C slow skeletal-type muscle myosin-binding-protein C myosin-binding protein C, slow-type "I-set domain containing|Myosin binding proteins" "593|658" 1993-12-15 2019-10-02 2021-05-26 4604 ENSG00000196091 OTTHUMG00000170274 uc001tih.4 NM_001254718 "CCDS58270|CCDS58271|CCDS9083|CCDS9084|CCDS55877|CCDS58272|CCDS58273|CCDS58269|CCDS9085|CCDS58268" Q00872 "8375400|16918501" MGI:1336213 RGD:735102 160794 227077 HGNC:7549 "ENST00000361466.7|NM_002465.4" HGNC:7549 +HGNC:7550 MYBPC2 myosin binding protein C2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "MYBPCF|MGC163408|fsMyBP-C" "fast-type muscle myosin-binding-protein C|fast skeletal-type muscle myosin-binding-protein C" myosin-binding protein C, fast-type "I-set domain containing|Myosin binding proteins" "593|658" 1993-12-15 2019-10-02 2021-05-26 4606 ENSG00000086967 OTTHUMG00000183040 uc002psf.3 NM_004533 CCDS46152 Q14324 8375400 MGI:1336170 RGD:1311596 160793 HGNC:7550 "ENST00000357701.6|NM_004533.4" +HGNC:7551 MYBPC3 myosin binding protein C3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FHC|cMyBP-C" CMH4 myosin-binding protein C, cardiac "I-set domain containing|Myosin binding proteins" "593|658" 1995-05-30 2019-10-02 2021-05-26 4607 ENSG00000134571 OTTHUMG00000166986 uc058bdz.1 X84075 NM_000256 CCDS53621 Q14896 "7744002|8358441" MGI:102844 RGD:1305950 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_386|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_386.xml" 600958 123595 objectId:2880 HGNC:7551 "ENST00000545968.6|NM_000256.3" HGNC:7551 +HGNC:7552 MYBPH myosin binding protein H protein-coding gene gene with protein product Approved 1q32.1 01q32.1 myosin-binding protein H "I-set domain containing|Myosin binding proteins" "593|658" 1993-06-18 2001-11-28 2015-09-04 4608 ENSG00000133055 OTTHUMG00000042121 uc001gzh.2 BC044226 NM_004997 CCDS30975 Q13203 8486381 MGI:1858196 RGD:620287 160795 HGNC:7552 "ENST00000255416.9|NM_004997.3" +HGNC:30434 MYBPHL myosin binding protein H like protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "I-set domain containing|Myosin binding proteins" "593|658" 2006-07-19 2016-06-22 2018-09-11 343263 ENSG00000221986 OTTHUMG00000012002 uc001dxk.1 AK129834 NM_001010985 CCDS30793 A2RUH7 28778945 MGI:1916003 RGD:1310511 619807 HGNC:30434 "ENST00000357155.2|NM_001010985.3" HGNC:30434 +HGNC:7553 MYC MYC proto-oncogene, bHLH transcription factor protein-coding gene gene with protein product Approved 8q24.21 08q24.21 "c-Myc|bHLHe39|MYCC" v-myc avian myelocytomatosis viral oncogene homolog Basic helix-loop-helix proteins 420 2001-06-22 2017-02-27 2021-04-13 4609 ENSG00000136997 OTTHUMG00000128475 uc064qdk.2 NM_001354870 "CCDS87627|CCDS6359" P01106 MGI:97250 RGD:3130 LRG_1397|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1397.xml MYC 190080 159785 HGNC:7553 "ENST00000621592.8|NM_002467.6" HGNC:7553 +HGNC:7554 MYCBP MYC binding protein protein-coding gene gene with protein product Approved 1p34.3 01p34.3 AMY-1 associate of myc-1 c-myc binding protein 1999-11-26 2013-07-09 2016-10-05 26292 ENSG00000214114 OTTHUMG00000000484 uc001ccs.4 AB007191 NM_012333 CCDS431 Q99417 9797456 MGI:1891750 RGD:2320727 606535 HGNC:7554 "ENST00000397572.5|NM_012333.5" +HGNC:23386 MYCBP2 MYC binding protein 2 protein-coding gene gene with protein product Approved 13q22.3 13q22.3 "PAM|KIAA0916|FLJ10106|PHR1" PAM/Highwire/RPM-1 protein 1 MYC binding protein 2, E3 ubiquitin protein ligase Ring finger proteins 58 2004-04-01 2019-02-28 2019-02-28 23077 ENSG00000005810 OTTHUMG00000017105 uc058xol.1 AB020723 NM_015057 O75592 "9689053|15057823" MGI:2179432 RGD:1312048 610392 HGNC:23386 "ENST00000544440.7|NM_015057.5" +HGNC:41023 MYCBP2-AS1 MYCBP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q22.3 13q22.3 MYCBP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874212 ENSG00000236051 OTTHUMG00000017104 uc058xor.1 NR_046716 MYCBP2-AS1 HGNC:41023 +HGNC:41024 MYCBP2-AS2 MYCBP2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q22.3 13q22.3 MYCBP2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874213 ENSG00000229521 OTTHUMG00000017103 uc058xow.1 NR_170173 MYCBP2-AS2 +HGNC:19677 MYCBPAP MYCBP associated protein protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "AMAP-1|DKFZp434N1415" 2004-02-19 2014-11-19 84073 ENSG00000136449 OTTHUMG00000157184 uc010wmr.3 BC028393 NM_032133 CCDS32680 Q8TBZ2 12151104 MGI:2388726 RGD:1359123 609835 HGNC:19677 "ENST00000323776.11|NM_032133.6" +HGNC:7555 MYCL MYCL proto-oncogene, bHLH transcription factor protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "LMYC|bHLHe38" "l-myc protein|myc-related gene from lung cancer|oncogene lmyc" MYCL1 v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived Basic helix-loop-helix proteins 420 2001-06-22 2013-07-09 2017-02-27 2017-02-27 4610 ENSG00000116990 OTTHUMG00000009243 NM_001033082 "CCDS44117|CCDS30682|CCDS53300" P12524 8978772 MGI:96799 RGD:1588591 MYCL 164850 HGNC:7555 "ENST00000372816.3|NM_001033081.3" +HGNC:40386 MYCL-AS1 MYCL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Antisense RNAs 1987 2019-08-16 2019-08-16 105378668 ENSG00000236546 OTTHUMG00000009292 XR_947223 HGNC:40386 +HGNC:7556 MYCLP1 MYCL pseudogene 1 pseudogene pseudogene Approved Xq22.3 Xq22.3 "MYCL2|MYCL1P1" "v-myc avian myelocytomatosis viral oncogene homolog 2|v-myc avian myelocytomatosis viral oncogene homolog 1 pseudogene 1" 1989-05-29 2013-07-09 2013-07-09 2014-11-19 4611 ENSG00000204053 OTTHUMG00000022162 NG_009866 P12525 310310 PGOHUM00000250084 HGNC:7556 +HGNC:48924 MYCLP2 MYCL pseudogene 2 pseudogene pseudogene Approved Xp11.21 Xp11.21 2013-07-09 2013-07-09 645136 ENSG00000228004 OTTHUMG00000021689 NG_021343 PGOHUM00000241346 HGNC:48924 +HGNC:7557 MYCLP3 MYCL pseudogene 3 pseudogene pseudogene Approved Xq27.3 Xq27.3 MYCL3 v-myc avian myelocytomatosis viral oncogene homolog 3 (pseudogene) 1999-05-17 2013-07-09 2013-07-09 2013-07-09 9964 Y16968 NG_001222 10100857 HGNC:7557 +HGNC:7559 MYCN MYCN proto-oncogene, bHLH transcription factor protein-coding gene gene with protein product Approved 2p24.3 02p24.3 "bHLHe37|N-myc|MYCNOT" NMYC v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog Basic helix-loop-helix proteins 420 2001-06-22 2017-02-27 2017-02-27 4613 ENSG00000134323 OTTHUMG00000039579 uc002rci.4 BC002712 NM_005378 "CCDS86823|CCDS1687" P04198 20153925 MGI:97357 RGD:1584995 MYCN 164840 123600 HGNC:7559 "ENST00000281043.4|NM_005378.6" HGNC:7559 +HGNC:16911 MYCNOS MYCN opposite strand other unknown Approved 2p24.3 02p24.3 "NCYM|N-CYM|MYCN-AS1" "MYCN antisense RNA 1|DNA binding transcriptional activator" "v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) opposite strand|MYCN opposite strand/antisense RNA (non-protein coding)|MYCN opposite strand/antisense RNA" 2004-02-04 2011-08-30 2014-01-07 2021-03-03 10408 ENSG00000233718 OTTHUMG00000151741 uc061gvl.1 S49953 NR_110230 P40205 "1419902|24391509|26156430" 605374 MYCNOS HGNC:16911 +HGNC:32684 MYCNUT MYCN upstream transcript non-coding RNA RNA, long non-coding Approved 2p24.3 02p24.3 lncUSMycN MYCNUN "MYCN upstream neighbor|MYCN upstream transcript (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-08-14 2014-06-09 2018-05-16 2018-07-26 103752554 ENSG00000223850 OTTHUMG00000039578 W87755 NR_125783 "24906397|27748806" 615968 lncusmycn MYCNUT HGNC:32684 +HGNC:23172 MYCT1 MYC target 1 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "MTLC|FLJ21269" 2003-10-15 2017-02-27 2017-02-27 80177 ENSG00000120279 OTTHUMG00000015850 uc003qpc.5 AF527367 NM_025107 CCDS5239 Q8N699 26710964 MGI:1915882 RGD:1311467 616805 HGNC:23172 "ENST00000367245.6|NM_025107.3" +HGNC:7562 MYD88 MYD88 innate immune signal transduction adaptor protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "myeloid differentiation primary response gene (88)|myeloid differentiation primary response 88" "TIR domain containing|My-T-BRC complex" "1296|1632" 1997-12-23 2019-01-22 2021-05-26 4615 ENSG00000172936 OTTHUMG00000131083 uc011ayi.3 U84408 NM_002468 "CCDS2674|CCDS54565|CCDS54566|CCDS54567|CCDS54568" Q99836 9013863 MGI:108005 RGD:735043 LRG_157|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_157.xml MYD88 602170 201114 HGNC:7562 "ENST00000650905.2|NM_002468.5" HGNC:7562 +HGNC:16948 MYDGF myeloid derived growth factor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "R33729_1|IL25|SF20|IL-25|IL-27" "IL27|IL27w|C19orf10" "interleukin 27 working designation|chromosome 19 open reading frame 10" 2002-04-03 2015-01-14 2016-06-01 2016-11-16 56005 ENSG00000074842 OTTHUMG00000182039 AF282264 NM_019107 CCDS12133 Q969H8 "17362502|21128247|25581518" MGI:2156020 RGD:1589603 606746 HGNC:16948 "ENST00000262947.8|NM_019107.4" +HGNC:17940 MYEF2 myelin expression factor 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "MEF-2|FLJ11213|KIAA1341|HsT18564" RNA binding motif containing 725 2003-03-20 2015-07-22 50804 ENSG00000104177 OTTHUMG00000172120 uc001zwi.5 AB037762 NM_016132 "CCDS32230|CCDS73722" Q9P2K5 "10718198|2601707" MGI:104592 RGD:1306547 619395 HGNC:17940 "ENST00000324324.12|NM_016132.5" +HGNC:7563 MYEOV myeloma overexpressed protein-coding gene gene with protein product Approved 11q13.3 11q13.3 OCIM myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) 1999-12-02 2013-03-27 2015-07-22 26579 ENSG00000172927 OTTHUMG00000167836 uc001oov.3 AJ223366 NM_001293291 "CCDS73340|CCDS8190" Q96EZ4 10753852 605625 HGNC:7563 "ENST00000441339.3|NM_001293291.2" +HGNC:7565 MYF5 myogenic factor 5 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 bHLHc2 "Basic helix-loop-helix proteins|Myogenic regulatory family" "420|1609" 1989-05-25 2021-05-26 4617 ENSG00000111049 OTTHUMG00000170166 uc001szg.3 NM_005593 CCDS9020 P13349 "8978788|12105204" MGI:97252 RGD:1308322 159990 HGNC:7565 "ENST00000228644.4|NM_005593.3" HGNC:7565 +HGNC:7566 MYF6 myogenic factor 6 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "MRF4|bHLHc4" "muscle-specific regulatory factor 4|herculin" myogenic factor 6 (herculin) "Basic helix-loop-helix proteins|Myogenic regulatory family" "420|1609" 1990-07-03 2015-12-04 2015-12-04 4618 ENSG00000111046 OTTHUMG00000170165 uc001szf.3 NM_002469 CCDS9019 P23409 8978788 MGI:97253 RGD:3134 159991 123603 HGNC:7566 "ENST00000228641.4|NM_002469.3" +HGNC:17590 MYG1 MYG1 exonuclease protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MYG|Gamm1" "melanocyte related gene|melanocyte proliferating gene 1" C12orf10 chromosome 12 open reading frame 10 Exonucleases 544 2002-01-18 2020-01-17 2020-01-17 2020-01-17 60314 ENSG00000139637 OTTHUMG00000170030 uc001scp.5 AF289485 NM_021640 CCDS31810 Q9HB07 "16996721|31081026" MGI:1929864 RGD:1359237 611366 HGNC:17590 "ENST00000267103.10|NM_021640.4" +HGNC:54810 MYG1-AS1 MYG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Antisense RNAs 1987 2020-01-17 2020-07-16 112268097 ENSG00000257605 XR_002957414 32079618 +HGNC:54725 MYG1P1 MYG1 pseudogene 1 pseudogene pseudogene Approved 2p23.2 02p23.2 C12orf10P1 C12orf10 pseudogene 1 2019-12-18 2020-03-06 2020-03-06 2020-03-06 100420770 ENSG00000270846 NG_023553 +HGNC:7567 MYH1 myosin heavy chain 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MYHSA1|MYHa|MyHC-2X/D|MGC133384" myosin heavy chain IIx/d myosin, heavy polypeptide 1, skeletal muscle, adult Myosin heavy chains, class II 1098 1986-01-01 2016-06-22 2016-06-22 4619 ENSG00000109061 OTTHUMG00000130362 uc002gmo.4 NM_005963 CCDS11155 P12882 6304733 MGI:1339711 RGD:735061 160730 HGNC:7567 "ENST00000226207.6|NM_005963.4" +HGNC:7572 MYH2 myosin heavy chain 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MYH2A|MYHSA2|MyHC-IIa|MYHas8|MyHC-2A" IBM3 "myosin, heavy polypeptide 2, skeletal muscle, adult|inclusion body myopathy 3, autosomal dominant" Myosin heavy chains, class II 1098 2001-06-22 2016-06-22 2021-05-26 4620 ENSG00000125414 OTTHUMG00000130363 uc002gmp.5 NM_017534 CCDS11156 Q9UKX2 "7545970|11889243" MGI:1339710 RGD:620354 160740 123615 HGNC:7572 "ENST00000245503.10|NM_017534.6" HGNC:7572 +HGNC:7573 MYH3 myosin heavy chain 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MYHC-EMB|MYHSE1|HEMHC|SMHCE" "myosin, skeletal, heavy chain, embryonic 1|muscle embryonic myosin heavy chain 3" myosin, heavy polypeptide 3, skeletal muscle, embryonic Myosin heavy chains, class II 1098 2001-06-22 2016-06-22 2021-05-26 4621 ENSG00000109063 OTTHUMG00000130367 uc002gmq.3 NM_002470 CCDS11157 P11055 2726495 MGI:1339709 RGD:3138 160720 123617 HGNC:7573 "ENST00000583535.6|NM_002470.4" HGNC:7573 +HGNC:7574 MYH4 myosin heavy chain 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MYH2B|MyHC-2B|MyHC-IIb" myosin, heavy polypeptide 4, skeletal muscle Myosin heavy chains, class II 1098 1986-01-01 2016-06-22 2016-06-22 4622 ENSG00000264424 OTTHUMG00000130365 uc002gmn.4 NM_017533 CCDS11154 Q9Y623 8518795 MGI:1339713 RGD:3139 160742 HGNC:7574 "ENST00000255381.2|NM_017533.2" +HGNC:7576 MYH6 myosin heavy chain 6 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 cardiomyopathy, hypertrophic 1 myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) "Myosin heavy chains, class II|MicroRNA protein coding host genes" "1098|1691" 1986-01-01 2016-06-22 2021-05-26 4624 ENSG00000197616 OTTHUMG00000028753 uc001wjv.3 D00943 NM_002471 CCDS9600 P13533 2144212 MGI:97255 RGD:62029 LRG_389|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_389.xml 160710 123619 HGNC:7576 "ENST00000405093.9|NM_002471.4" HGNC:7576 +HGNC:7577 MYH7 myosin heavy chain 7 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 CMD1S "CMH1|MPD1" "myopathy, distal 1|myosin, heavy polypeptide 7, cardiac muscle, beta" "Myosin heavy chains, class II|MicroRNA protein coding host genes" "1098|1691" 1986-01-01 2016-06-22 2021-05-26 4625 ENSG00000092054 OTTHUMG00000028755 uc001wjx.4 M58018 NM_000257 CCDS9601 P12883 "2494889|8483915|15322983" MGI:2155600 RGD:62030 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_384|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_384.xml" 160760 123621 HGNC:7577 "ENST00000355349.4|NM_000257.4" HGNC:7577 +HGNC:15906 MYH7B myosin heavy chain 7B protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "KIAA1512|dJ756N5.1|MYH14|MHC14" myosin, heavy polypeptide 7B, cardiac muscle, beta "Myosin heavy chains, class II|MicroRNA protein coding host genes" "1098|1691" 2001-06-21 2016-06-22 2021-11-17 57644 ENSG00000078814 OTTHUMG00000032320 uc061wko.1 AB040945 NM_020884 CCDS42869 A7E2Y1 "11919279|15014174|23800289" MGI:3710243 RGD:1307994 609928 360173 HGNC:15906 HGNC:15906 +HGNC:7578 MYH8 myosin heavy chain 8 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MyHC-peri|MyHC-pn" myosin, heavy polypeptide 8, skeletal muscle, perinatal Myosin heavy chains, class II 1098 1990-03-12 2016-06-22 2021-05-26 4626 ENSG00000133020 OTTHUMG00000130361 uc002gmm.3 NM_002472 CCDS11153 P13535 2373371 MGI:1339712 RGD:620356 160741 123626 HGNC:7578 "ENST00000403437.2|NM_002472.3" HGNC:7578 +HGNC:7579 MYH9 myosin heavy chain 9 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "NMMHCA|NMHC-II-A|MHA|FTNS|EPSTS" nonmuscle myosin heavy chain II-A DFNA17 myosin, heavy polypeptide 9, non-muscle "Myosin heavy chains, class II|MicroRNA protein coding host genes" "1098|1691" 1990-03-12 2016-06-22 2021-05-26 4627 ENSG00000100345 OTTHUMG00000030429 uc003apg.4 NM_002473 CCDS13927 P35579 "1860190|11023810" MGI:107717 RGD:3140 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_567|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_567.xml" MYH9 160775 123628 HGNC:7579 "ENST00000216181.11|NM_002473.6" HGNC:7579 +HGNC:55867 MYH9-DT MYH9 divergent transcript non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Divergent transcripts 1990 2021-09-06 2021-09-06 105377199 ENSG00000223695 XR_001755529 +HGNC:7568 MYH10 myosin heavy chain 10 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 NMMHCB myosin, heavy polypeptide 10, non-muscle Myosin heavy chains, class II 1098 1991-05-15 2016-06-22 2021-05-26 4628 ENSG00000133026 OTTHUMG00000108195 uc002gll.5 M69181 NM_001256012 "CCDS73984|CCDS11144|CCDS58515" P35580 1860190 MGI:1930780 RGD:71000 160776 HGNC:7568 "ENST00000360416.8|NM_001256012.3" +HGNC:7569 MYH11 myosin heavy chain 11 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "SMMHC|SMHC|SMMS-1" myosin, heavy polypeptide 11, smooth muscle Myosin heavy chains, class II 1098 1991-09-13 2016-06-22 2022-02-09 4629 ENSG00000133392 OTTHUMG00000129935 uc002ddy.4 X69292 NM_001040113 "CCDS10566|CCDS45424|CCDS45423|CCDS10565" P35749 7684189 MGI:102643 RGD:3136 LRG_1401|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1401.xml MYH11 160745 123606 HGNC:7569 "ENST00000300036.6|NM_002474.3" HGNC:7569 +HGNC:7571 MYH13 myosin heavy chain 13 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 MyHC-eo "extraocular muscle myosin heavy chain|extraocular myosin heavy chain" myosin, heavy polypeptide 13, skeletal muscle Myosin heavy chains, class II 1098 1998-12-09 2016-06-22 2016-06-22 8735 ENSG00000006788 OTTHUMG00000177987 uc060bfq.1 AF075248 NM_003802 CCDS45613 Q9UKX3 9806854 MGI:1339967 RGD:3137 603487 HGNC:7571 "ENST00000252172.9|NM_003802.3" +HGNC:23212 MYH14 myosin heavy chain 14 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ13881|KIAA2034|MHC16|MYH17" DFNA4 "myosin, heavy polypeptide 14|myosin, heavy chain 14, non-muscle" Myosin heavy chains, class II 1098 2003-10-15 2016-06-22 2021-05-26 79784 ENSG00000105357 OTTHUMG00000183034 uc010enu.2 AY165122 NM_024729 "CCDS54295|CCDS46151|CCDS59411" Q7Z406 "12909352|15015131|17940200" MGI:1919210 RGD:1306821 608568 123610 HGNC:23212 "ENST00000642316.2|NM_001145809.2" HGNC:23212 +HGNC:31073 MYH15 myosin heavy chain 15 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 KIAA1000 myosin, heavy polypeptide 15 Myosin heavy chains, class II 1098 2004-07-28 2016-06-22 2018-11-16 22989 ENSG00000144821 OTTHUMG00000159226 uc003dxa.1 AB023217 NM_014981 CCDS43127 Q9Y2K3 "15014174|15042088" MGI:3643515 RGD:1565858 609929 HGNC:31073 "ENST00000693548.1|NM_014981.3" +HGNC:31038 MYH16 myosin heavy chain 16 pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 "MHC20|MYH16P" sarcomeric myosin MYH5 "myosin, heavy polypeptide 5|myosin, heavy polypeptide 16|myosin, heavy chain 16" Myosin heavy chains, class II 1098 2004-01-23 2016-06-22 2019-12-17 84176 ENSG00000002079 OTTHUMG00000154426 BK001410 NR_002147 Q9H6N6 "11919279|15014174" 608580 PGOHUM00000263185 HGNC:31038 +HGNC:50609 MYHAS myosin heavy chain gene cluster antisense RNA non-coding RNA RNA, long non-coding Approved 17p13.1 17p13.1 linc-MYH Long non-coding RNAs with non-systematic symbols 1992 2014-05-21 2014-05-27 2020-11-18 100128560 ENSG00000272975 OTTHUMG00000186260 AK097500 NR_125367 "32152230|32960481" MYHAS HGNC:50609 +HGNC:7582 MYL1 myosin light chain 1 protein-coding gene gene with protein product Approved 2q34 02q34 "MLC1|MLC1F|MLC3F|MLC-1|MLC1/3" Myosin light chain 1/3, skeletal muscle isoform "myosin, light polypeptide 1, alkali; skeletal, fast|myosin, light chain 1, alkali; skeletal, fast" Myosin light chains, class 1 2039 1986-01-01 2015-11-13 2021-11-19 4632 ENSG00000168530 OTTHUMG00000132992 uc002veb.4 NM_079420 "CCDS2390|CCDS2391" P05976 "2304459|3422212|30215711" MGI:97269 RGD:1598796 160780 HGNC:7582 "ENST00000352451.4|NM_079420.3" HGNC:7582 +HGNC:7583 MYL2 myosin light chain 2 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 CMH10 cardiac ventricular myosin light chain 2 "myosin, light polypeptide 2, regulatory, cardiac, slow|myosin, light chain 2, regulatory, cardiac, slow" Myosin light chains, class 2 2040 1991-11-21 2015-11-13 2021-05-26 4633 ENSG00000111245 OTTHUMG00000169535 uc001try.5 NM_000432 CCDS31901 P10916 1386340 MGI:97272 RGD:1564245 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_393|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_393.xml" 160781 123631 HGNC:7583 "ENST00000228841.15|NM_000432.4" HGNC:7583 +HGNC:7584 MYL3 myosin light chain 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CMH8|VLC1|MLC1V|MLC1SB" "myosin, light polypeptide 3, alkali; ventricular, skeletal, slow|myosin, light chain 3, alkali; ventricular, skeletal, slow" Myosin light chains, class 1 2039 1986-01-01 2015-11-13 2021-05-26 4634 ENSG00000160808 OTTHUMG00000133516 uc003cql.2 NM_000258 CCDS2746 P08590 "1479618|2784124" MGI:97268 RGD:3142 LRG_395|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_395.xml 160790 123634 HGNC:7584 "ENST00000292327.6|NM_000258.3" HGNC:7584 +HGNC:7585 MYL4 myosin light chain 4 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "ALC1|AMLC|GT1|PRO1957" "myosin, atrial/fetal muscle, light chain|atrial myosin light chain 1" "myosin, light polypeptide 4, alkali; atrial, embryonic|myosin, light chain 4, alkali; atrial, embryonic" Myosin light chains, class 1 2039 1986-01-01 2015-11-13 2021-05-26 4635 ENSG00000198336 OTTHUMG00000178232 uc060gng.1 NM_001002841 CCDS11510 P12829 3417683 MGI:97267 RGD:1591197 160770 477581 HGNC:7585 "ENST00000393450.5|NM_002476.2" HGNC:7585 +HGNC:7586 MYL5 myosin light chain 5 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "myosin, light polypeptide 5, regulatory|myosin, light chain 5, regulatory" Myosin light chains, class 2 2040 1992-07-20 2015-11-13 2016-10-05 4636 ENSG00000215375 OTTHUMG00000159971 uc003gav.4 NM_002477 "CCDS87196|CCDS43197" Q02045 1284596 160782 HGNC:7586 +HGNC:7587 MYL6 myosin light chain 6 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "ESMLC|MLC3NM|MLC1SM" "myosin, light polypeptide 6, alkali, smooth muscle and non-muscle|myosin, light chain 6, alkali, smooth muscle and non-muscle" Myosin light chains, class 1 2039 1994-07-21 2015-11-13 2015-11-13 4637 ENSG00000092841 OTTHUMG00000170200 uc001sjw.3 AB046613 NM_021019 "CCDS31834|CCDS8906" P60660 "8188229|2304459|2722814" MGI:109318 RGD:1589019 609931 HGNC:7587 "ENST00000550697.6|NM_021019.5" +HGNC:29823 MYL6B myosin light chain 6B protein-coding gene gene with protein product Approved 12q13.2 12q13.2 MLC1SA myosin light chain 1 slow a "myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle|myosin, light chain 6B, alkali, smooth muscle and non-muscle" Myosin light chains, class 1 2039 2006-03-13 2015-11-13 2015-11-13 140465 ENSG00000196465 OTTHUMG00000170199 uc058pii.1 M31211 NM_002475 CCDS8905 P14649 "2602161|2304459" MGI:1917789 RGD:1560334 609930 HGNC:29823 +HGNC:55472 MYL6B-AS1 MYL6B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.2 12q13.2 Antisense RNAs 1987 2021-03-10 2021-03-10 120766150 ENSG00000257809 +HGNC:51647 MYL6BP1 MYL6B pseudogene 1 pseudogene pseudogene Approved 2q34 02q34 myosin, light chain 6B pseudogene 1 2015-04-21 2020-11-24 2020-11-24 100422437 ENSG00000228380 OTTHUMG00000154704 NG_023319 PGOHUM00000298308 HGNC:51647 +HGNC:7588 MYL6P1 MYL6 pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 MYL6P myosin, light polypeptide 6, pseudogene 2000-05-23 2010-02-26 2020-11-24 2020-11-24 54043 ENSG00000226543 OTTHUMG00000086885 NG_000917 PGOHUM00000297271 HGNC:7588 +HGNC:23772 MYL6P2 MYL6 pseudogene 2 pseudogene pseudogene Approved 21q22.2 21q22.2 myosin, light chain 6 pseudogene 2 2010-02-26 2020-11-24 2020-11-24 100431168 ENSG00000235808 OTTHUMG00000086714 AF121781 NG_021232 PGOHUM00000297384 HGNC:23772 +HGNC:37812 MYL6P3 MYL6 pseudogene 3 pseudogene pseudogene Approved 10q21.3 10q21.3 myosin, light chain 6 pseudogene 3 2010-02-26 2020-11-24 2020-11-24 100129561 ENSG00000227173 OTTHUMG00000018327 NG_022957 PGOHUM00000289879 HGNC:37812 +HGNC:37813 MYL6P4 MYL6 pseudogene 4 pseudogene pseudogene Approved 7q34 07q34 myosin, light chain 6 pseudogene 4 2010-02-26 2020-11-24 2020-11-24 642627 ENSG00000240677 OTTHUMG00000157638 NG_009428 PGOHUM00000302967 HGNC:37813 +HGNC:51646 MYL6P5 MYL6 pseudogene 5 pseudogene pseudogene Approved 17q24.3 17q24.3 myosin, light chain 6 pseudogene 5 2015-04-21 2020-11-24 2020-11-24 124685 ENSG00000228118 OTTHUMG00000132241 NG_030302 PGOHUM00000294544 HGNC:51646 +HGNC:21719 MYL7 myosin light chain 7 protein-coding gene gene with protein product Approved 7p13 07p13 "MYLC2A|MYL2A" "myosin, light polypeptide 7, regulatory|myosin, light chain 7, regulatory" Myosin light chains, class 2 2040 2003-10-14 2015-11-13 2016-10-05 58498 ENSG00000106631 OTTHUMG00000023125 uc003tkg.4 M94547 NM_021223 CCDS5478 Q01449 8207020 MGI:107495 RGD:1308262 613993 HGNC:21719 "ENST00000223364.7|NM_021223.3" +HGNC:15754 MYL9 myosin light chain 9 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "MYRL2|MLC2|LC20|MRLC1" "myosin regulatory light chain 2, smooth muscle isoform|myosin regulatory light chain 1" "myosin, light polypeptide 9, regulatory|myosin, light chain 9, regulatory" Myosin light chains, class 2 2040 2001-09-17 2015-11-13 2015-11-13 10398 ENSG00000101335 OTTHUMG00000032387 uc002xfl.3 J02854 NM_006097 "CCDS13277|CCDS13276" P24844 2526655 MGI:2138915 RGD:1311235 609905 HGNC:15754 "ENST00000279022.7|NM_006097.5" +HGNC:29825 MYL10 myosin light chain 10 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC3479|MYLC2PL|PLRLC" myosin, light chain 10, regulatory Myosin light chains, class 2 2040 2009-03-06 2015-11-13 2015-11-13 93408 ENSG00000106436 OTTHUMG00000157137 uc003uyr.3 BC002778 NM_138403 CCDS34713 Q9BUA6 1628631 MGI:1891705 RGD:1561258 617177 HGNC:29825 "ENST00000223167.5|NM_138403.5" +HGNC:29824 MYL11 myosin light chain 11 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "MRLC2|HUMMLC2B" "myosin, light chain 11, regulatory|myosin regulatory light chain 2" MYLPF myosin light chain, phosphorylatable, fast skeletal muscle Myosin light chains, class 2 2040 2009-03-06 2022-03-30 2022-03-30 2022-03-30 29895 ENSG00000180209 OTTHUMG00000132399 uc002dxv.2 AF363061 NM_013292 CCDS10677 Q96A32 6179945 MGI:97273 RGD:3141 617378 HGNC:29824 "ENST00000322861.12|NM_013292.5" HGNC:29824 +HGNC:55331 MYL12-AS1 MYL12A and MYL12B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.31 18p11.31 Antisense RNAs 1987 2020-10-21 2020-10-21 104968399 ENSG00000264235 NR_130143 +HGNC:16701 MYL12A myosin light chain 12A protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "MLCB|MYL2B|MRLC3|MRCL3" myosin regulatory light chain 3 "myosin, light polypeptide, regulatory, non-sarcomeric (20kD)|myosin, light chain 12A, regulatory, non-sarcomeric" Myosin light chains, class 2 2040 2009-03-06 2015-11-13 2015-11-13 10627 ENSG00000101608 OTTHUMG00000131509 uc060mxh.1 X54304 NM_006471 "CCDS77145|CCDS11830" P19105 2216787 MGI:1914518 RGD:1309537 HGNC:16701 "ENST00000217652.8|NM_006471.4" +HGNC:51648 MYL12AP1 MYL12A pseudogene 1 pseudogene pseudogene Approved 8q22.1 08q22.1 myosin, light chain 12A pseudogene 1 2015-04-21 2020-11-24 2020-11-24 157667 ENSG00000254387 OTTHUMG00000164355 NG_022427 PGOHUM00000303626 HGNC:51648 +HGNC:29827 MYL12B myosin light chain 12B protein-coding gene gene with protein product Approved 18p11.31 18p11.31 MRLC2 myosin regulatory light chain 2 myosin, light chain 12B, regulatory Myosin light chains, class 2 2040 2009-03-06 2015-11-13 2015-11-13 103910 ENSG00000118680 OTTHUMG00000131510 uc002klt.5 AY320408 NM_033546 CCDS11831 O14950 11942626 MGI:107494 RGD:628855 609211 HGNC:29827 "ENST00000237500.10|NM_033546.4" +HGNC:51649 MYL12BP1 MYL12B pseudogene 1 pseudogene pseudogene Approved 15q15.2 15q15.2 myosin, light chain 12B pseudogene 1 2015-04-21 2020-11-24 2020-11-24 645094 ENSG00000260490 OTTHUMG00000175798 NG_022126 PGOHUM00000293222 HGNC:51649 +HGNC:51650 MYL12BP2 MYL12B pseudogene 2 pseudogene pseudogene Approved 4q35.1 04q35.1 myosin, light chain 12B pseudogene 2 2015-04-21 2020-11-24 2020-11-24 391722 ENSG00000227765 OTTHUMG00000160610 XM_047416561 PGOHUM00000300087 HGNC:51650 +HGNC:7589 MYL12BP3 MYL12B pseudogene 3 pseudogene pseudogene Approved 6p21.32 06p21.32 BING3 MYL8P "myosin, light polypeptide 8, pseudogene|myosin, light chain 8, pseudogene|myosin light chain 8, pseudogene" 2000-07-19 2020-12-08 2020-12-08 2020-12-08 442204 ENSG00000229596 OTTHUMG00000031181 NG_005310 9545376 PGOHUM00000301765 HGNC:7589 +HGNC:21155 MYLIP myosin regulatory light chain interacting protein protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "MIR|IDOL" E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor "Ring finger proteins|FERM domain containing|MicroRNA protein coding host genes" "58|1293|1691" 2003-11-26 2015-08-25 29116 ENSG00000007944 OTTHUMG00000016405 uc003nbq.4 AF187016 NM_013262 CCDS4536 Q8WY64 "10593918|11162443|19688294" MGI:2388271 RGD:1305761 610082 421436 HGNC:21155 "ENST00000356840.8|NM_013262.4" +HGNC:7590 MYLK myosin light chain kinase protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "MLCK|smMLCK|MYLK1|MLCK1|KRP|Telokin|MLCK108|MLCK210|MYLK-L" "smooth muscle myosin light chain kinase|kinase related protein" myosin, light polypeptide kinase "Fibronectin type III domain containing|I-set domain containing|Myosin light chain kinase family" "555|593|1668" 1995-07-14 2008-01-23 2022-03-07 4638 ENSG00000065534 OTTHUMG00000141304 uc062ncr.1 X85337 NM_053025 "CCDS46897|CCDS43141|CCDS58849|CCDS3023|CCDS46896" Q15746 "8575746|10036190" MGI:894806 RGD:1310915 600922 246653 objectId:1552 2.7.11.18 HGNC:7590 "ENST00000360304.8|NM_053025.4" HGNC:7590 +HGNC:42440 MYLK-AS1 MYLK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.1 03q21.1 MYLK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2015-11-13 100506826 ENSG00000239523 OTTHUMG00000159536 uc062ncm.1 NR_038266 MYLK-AS1 HGNC:42440 +HGNC:40387 MYLK-AS2 MYLK antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q21.1 03q21.1 MYLK antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2021-04-07 100873940 ENSG00000250174 OTTHUMG00000159965 uc062ndc.1 NR_046629 MYLK-AS2 HGNC:40387 +HGNC:16243 MYLK2 myosin light chain kinase 2 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "skMLCK|KMLC|MLCK2" skeletal muscle myosin light chain kinase myosin light chain kinase 2, skeletal muscle Myosin light chain kinase family 1668 2001-07-31 2008-01-23 2021-12-07 85366 ENSG00000101306 OTTHUMG00000032194 uc061wct.1 AF325549 NM_033118 CCDS13191 Q9H1R3 "11733062|21284933" MGI:2139434 RGD:620934 LRG_392|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_392.xml 606566 123637 objectId:1553 2.7.11.18 HGNC:16243 "ENST00000375985.5|NM_033118.4" HGNC:16243 +HGNC:29826 MYLK3 myosin light chain kinase 3 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 "caMLCK|MLCK" MLC kinase Myosin light chain kinase family 1668 2008-01-23 2014-11-18 91807 ENSG00000140795 OTTHUMG00000132543 uc002eei.5 AJ247087 NM_182493 "CCDS10723|CCDS76861" Q32MK0 17885681 MGI:2443063 RGD:1305801 612147 objectId:2110 HGNC:29826 "ENST00000394809.9|NM_182493.3" +HGNC:27972 MYLK4 myosin light chain kinase family member 4 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 SgK085 caMLCK like myosin light chain kinase family, member 4 Myosin light chain kinase family 1668 2008-01-23 2015-11-13 2015-11-13 340156 ENSG00000145949 OTTHUMG00000014121 uc003mty.5 NM_001012418 CCDS34330 Q86YV6 MGI:3643758 RGD:6494757 objectId:2111 HGNC:27972 "ENST00000274643.9|NM_001012418.5" +HGNC:7591 MYLKP1 myosin light chain kinase pseudogene 1 pseudogene pseudogene Approved 3p12.3 03p12.3 MYLKP MYLKP 1999-04-09 2010-02-26 2016-01-29 2017-12-06 9430 ENSG00000228868 OTTHUMG00000158822 AF042089 NG_009879 "10036190|21441351" PGOHUM00000250243 HGNC:7591 +HGNC:33778 MYMK myomaker, myoblast fusion factor protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "TMEM226|MYOMAKER" transmembrane protein 226 TMEM8C transmembrane protein 8C TMEM8 family 1957 2009-06-12 2017-05-11 2017-05-11 2021-12-09 389827 ENSG00000187616 OTTHUMG00000131685 uc011mdk.2 BX324209 NM_001080483 CCDS35170 A6NI61 29560417 MGI:1913389 RGD:1306074 615345 HGNC:33778 "ENST00000339996.4|NM_001080483.3" HGNC:33778 +HGNC:52391 MYMX myomixer, myoblast fusion factor protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MINION "microprotein inducer of fusion|myomerger" 2017-05-11 2017-07-19 101929726 ENSG00000262179 OTTHUMG00000177883 NM_001315494 CCDS83093 A0A1B0GTQ4 "28386024|28569745|28569755" MGI:3649059 RGD:11426996 HGNC:52391 "ENST00000573382.3|NM_001315494.2" +HGNC:14955 MYNN myoneurin protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "SBBIZ1|ZBTB31|ZNF902" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2001-04-26 2021-04-27 55892 ENSG00000085274 OTTHUMG00000184027 uc003fft.4 AF148848 NM_018657 "CCDS3207|CCDS54671" Q9NPC7 10873615 MGI:1931415 RGD:1307889 606042 HGNC:14955 "ENST00000349841.10|NM_018657.5" +HGNC:7595 MYO1A myosin IA protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "Unconventional myosin-Ia|Brush border myosin I" "MYHL|DFNA48|BBMI" Myosin heavy chains, class I 1097 1996-04-04 2021-12-07 4640 ENSG00000166866 OTTHUMG00000149899 uc001smw.5 L29137 NM_005379 CCDS8929 Q9UBC5 "8884266|12736868" MGI:107732 RGD:3135 601478 166803 HGNC:7595 "ENST00000300119.8|NM_005379.4" HGNC:7595 +HGNC:7596 MYO1B myosin IB protein-coding gene gene with protein product Approved 2q32.3 02q32.3 myr1 Myosin heavy chains, class I 1097 1996-04-04 2016-10-05 4430 ENSG00000128641 OTTHUMG00000132718 uc010fsg.3 L29138 NM_012223 "CCDS82546|CCDS46477|CCDS2311" O43795 "8022818|8449985" MGI:107752 RGD:70994 606537 HGNC:7596 "ENST00000392318.8|NM_001130158.3" +HGNC:55807 MYO1B-AS1 MYO1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 Antisense RNAs 1987 2021-07-29 2021-07-29 122152331 ENSG00000227542 +HGNC:7597 MYO1C myosin IC protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "myr2|NMI|MyoIC" Unconventional myosin-Ic "Myosin heavy chains, class I|B-WICH chromatin-remodelling complex subunits" "1097|1787" 1996-04-04 2021-12-07 4641 ENSG00000197879 OTTHUMG00000090323 uc002fso.4 X98507 NM_001080779 "CCDS86556|CCDS45562|CCDS42226|CCDS11003" O00159 9119401 MGI:106612 RGD:620443 606538 407527 HGNC:7597 "ENST00000648651.1|NM_001080779.2" HGNC:7597 +HGNC:7598 MYO1D myosin ID protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA0727|myr4|PPP1R108" protein phosphatase 1, regulatory subunit 108 "Protein phosphatase 1 regulatory subunits|Myosin heavy chains, class I" "694|1097" 1996-04-04 2015-09-04 4642 ENSG00000176658 OTTHUMG00000179636 uc002hho.2 AB018270 NM_001303279 "CCDS76992|CCDS32615|CCDS76991" O94832 8884266 MGI:107728 RGD:621321 606539 HGNC:7598 "ENST00000318217.10|NM_015194.3" +HGNC:55837 MYO1D-DT MYO1D divergent transcript non-coding RNA RNA, long non-coding Approved 17q11.2 17q11.2 Divergent transcripts 1990 2021-08-02 2021-08-02 102724715 ENSG00000226377 XR_429942 +HGNC:7599 MYO1E myosin IE protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "MYO1C|HuncM-IC|MGC104638" myosin-IC "Myosin heavy chains, class I|MicroRNA protein coding host genes" "1097|1691" 1996-04-04 2021-05-26 4643 ENSG00000157483 OTTHUMG00000171944 uc002aga.5 U14391 NM_004998 CCDS32254 Q12965 8884266 MGI:106621 RGD:3144 601479 270032 HGNC:7599 "ENST00000288235.9|NM_004998.4" HGNC:7599 +HGNC:7600 MYO1F myosin IF protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Unconventional myosin-If Myosin heavy chains, class I 1097 1996-04-04 2021-12-07 4542 ENSG00000142347 OTTHUMG00000156005 uc002mkg.4 X98411 NM_001348355 CCDS42494 O00160 "9119401|8884266" MGI:107711 RGD:1309750 601480 470714 HGNC:7600 "ENST00000644032.2|NM_012335.4" HGNC:7600 +HGNC:13880 MYO1G myosin IG protein-coding gene gene with protein product Approved 7p13 07p13 HA-2 minor histocompatibility antigen HA-2 "Minor histocompatibility antigens|Myosin heavy chains, class I" "870|1097" 2000-11-28 2015-09-04 64005 ENSG00000136286 OTTHUMG00000155821 uc003tmh.3 AF380932 NM_033054 CCDS34629 B0I1T2 MGI:1927091 RGD:1306016 600642 HGNC:13880 "ENST00000258787.12|NM_033054.3" +HGNC:13879 MYO1H myosin IH protein-coding gene gene with protein product Approved 12q24.11 12q24.11 FLJ37587 Unconventional myosin-Ih Myosin heavy chains, class I 1097 2000-11-28 2021-12-07 283446 ENSG00000174527 OTTHUMG00000169252 uc010sxn.1 NM_173597 CCDS53826 Q8N1T3 12486594 MGI:1914674 RGD:1596237 614636 HGNC:13879 HGNC:13879 +HGNC:7601 MYO3A myosin IIIA protein-coding gene gene with protein product Approved 10p12.1 10p12.1 DFNB30 deafness, autosomal recessive 30 Myosin heavy chains, class III 1099 2000-05-16 2004-05-19 2021-12-07 53904 ENSG00000095777 OTTHUMG00000017837 uc001isn.3 AF229172 NM_017433 CCDS7148 Q8NEV4 "10936054|24214986" MGI:2183924 RGD:1560083 LRG_1354|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1354.xml 606808 160313 objectId:2112 HGNC:7601 "ENST00000642920.2|NM_017433.5" HGNC:7601 +HGNC:15576 MYO3B myosin IIIB protein-coding gene gene with protein product Approved 2q31.1 02q31.1 Myosin heavy chains, class III 1099 2001-12-07 2016-10-05 140469 ENSG00000071909 OTTHUMG00000154002 uc002ufz.4 NM_001083615 "CCDS46446|CCDS42773" Q8WXR4 MGI:2448580 RGD:1560313 610040 objectId:2113 HGNC:15576 "ENST00000408978.9|NM_138995.5" +HGNC:40713 MYO3B-AS1 MYO3B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Antisense RNAs 1987 2018-09-27 2018-09-27 101929753 ENSG00000231898 OTTHUMG00000154003 NR_110576 HGNC:40713 +HGNC:7602 MYO5A myosin VA protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "MYO5|GS1|MYR12" "myosin, heavy polypeptide kinase|myosin heavy chain 12|myoxin|myosin V|Unconventional myosin-Va" MYH12 "myosin VA (heavy polypeptide 12, myoxin)|myosin VA (heavy chain 12, myoxin)" Myosin heavy chains, class V 1100 1993-09-23 2015-09-09 2021-12-06 4644 ENSG00000197535 OTTHUMG00000137383 uc002aby.4 NM_000259 "CCDS45262|CCDS42037" Q9Y4I1 "8188282|8022818" MGI:105976 RGD:3143 "MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1)|http://structure.bmc.lu.se/idbase/MYO5Abase/|LRG_86|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_86.xml" MYO5A 160777 123645 HGNC:7602 "ENST00000399233.7|NM_001382347.1" HGNC:7602 +HGNC:7603 MYO5B myosin VB protein-coding gene gene with protein product Approved 18q 18q KIAA1119 "Myosin heavy chains, class V|MicroRNA protein coding host genes" "1100|1691" 1996-04-04 2021-05-26 4645 ENSG00000167306 OTTHUMG00000179843 uc002leb.3 AB032945 NM_001080467 CCDS42436 Q9ULV0 "8884266|17462998" MGI:106598 RGD:621347 606540 171089 HGNC:7603 "ENST00000285039.12|NM_001080467.3" HGNC:7603 +HGNC:38495 MYO5BP1 myosin VB pseudogene 1 pseudogene pseudogene Approved 9p11.2 09p11.2 2010-05-18 2015-02-02 441420 ENSG00000274680 OTTHUMG00000188455 XR_036959 PGOHUM00000304213 HGNC:38495 +HGNC:38496 MYO5BP2 myosin VB pseudogene 2 pseudogene pseudogene Approved 9q13 09q13 2010-05-18 2016-10-05 392335 ENSG00000238245 OTTHUMG00000058165 NG_021658 PGOHUM00000236583 HGNC:38496 +HGNC:38497 MYO5BP3 myosin VB pseudogene 3 pseudogene pseudogene Approved 9q13 09q13 2010-05-18 2016-10-05 441442 ENSG00000228656 OTTHUMG00000058679 NG_021621 PGOHUM00000236170 HGNC:38497 +HGNC:7604 MYO5C myosin VC protein-coding gene gene with protein product Approved 15q21.2 15q21.2 MGC74969 myosin 5C "Myosin heavy chains, class V|MicroRNA protein coding host genes" "1100|1691" 2000-07-31 2015-07-22 55930 ENSG00000128833 OTTHUMG00000172630 uc010bff.4 AF272390 NM_018728 CCDS42036 Q9NQX4 11870218 MGI:2442485 RGD:1309994 610022 HGNC:7604 "ENST00000261839.12|NM_018728.4" +HGNC:7605 MYO6 myosin VI protein-coding gene gene with protein product Approved 6q14.1 06q14.1 KIAA0389 "DFNA22|DFNB37" deafness, autosomal recessive 37 Myosin heavy chains, class VI 1101 1996-04-04 2004-05-19 2021-05-26 4646 ENSG00000196586 OTTHUMG00000015061 uc003pih.2 "U90236|AB002387" NM_004999 "CCDS75481|CCDS34487" Q9UM54 "9259267|11468689" MGI:104785 RGD:1560646 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=MYO6|LRG_438|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_438.xml" 600970 123648 HGNC:7605 "ENST00000369977.8|NM_004999.4" HGNC:7605 +HGNC:7606 MYO7A myosin VIIA protein-coding gene gene with protein product Approved 11q13.5 11q13.5 NSRD2 "USH1B|DFNB2|DFNA11" myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)) "A-kinase anchoring proteins|Myosin heavy chains, class VII|FERM domain containing" "396|1102|1293" 1992-06-08 2005-09-12 2021-05-26 4647 ENSG00000137474 OTTHUMG00000152822 uc001oyc.3 U39226 NM_000260 "CCDS53683|CCDS53684" Q13402 8884266 MGI:104510 RGD:628830 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|Mutations of the Myosin VIIa Gene|http://www.retina-international.org/files/sci-news/myomut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=MYO7A|LRG_1420|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1420.xml" 276903 123653 HGNC:7606 "ENST00000409709.9|NM_000260.4" HGNC:7606 +HGNC:7607 MYO7B myosin VIIB protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "Myosin heavy chains, class VII|FERM domain containing" "1102|1293" 1996-04-04 2018-11-16 4648 ENSG00000169994 OTTHUMG00000153419 uc002top.3 NM_001080527 CCDS46405 Q6PIF6 "8022818|8884266" MGI:107709 RGD:1561153 606541 HGNC:7607 "ENST00000409816.8|NM_001393586.1" +HGNC:7608 MYO9A myosin IXA protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ11061|FLJ13244|MGC71859" Myosin heavy chains, class IX 1103 1996-04-04 2021-05-26 4649 ENSG00000066933 OTTHUMG00000133440 uc002atl.6 AF117888 NM_006901 CCDS10239 B2RTY4 10409426 MGI:107735 RGD:621395 604875 HGNC:7608 "ENST00000356056.10|NM_006901.4" HGNC:7608 +HGNC:7609 MYO9B myosin IXB protein-coding gene gene with protein product Approved 19p13.11 19p13.11 CELIAC4 Myosin heavy chains, class IX 1103 1996-04-04 2015-09-04 4650 ENSG00000099331 OTTHUMG00000182707 uc002nfi.3 NM_001130065 CCDS46010 Q13459 9226381 MGI:106624 RGD:3146 602129 HGNC:7609 "ENST00000682292.1|NM_004145.4" +HGNC:7593 MYO10 myosin X protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "KIAA0799|MyoX" Unconventional myosin-X "Pleckstrin homology domain containing|Myosin heavy chains, class X|FERM domain containing" "682|1104|1293" 1996-07-19 2021-12-07 4651 ENSG00000145555 OTTHUMG00000161822 uc003jft.5 AF247457 NM_012334 CCDS54834 Q9HD67 "8884266|16894163" MGI:107716 RGD:1307193 601481 HGNC:7593 "ENST00000513610.6|NM_012334.3" +HGNC:7594 MYO15A myosin XVA protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DFNB3|MYO15" "Myosin heavy chains, class XV|FERM domain containing" "1105|1293" 1998-05-29 2021-05-26 51168 ENSG00000091536 OTTHUMG00000059390 uc060cbc.1 AF144094 NM_016239 CCDS42271 Q9UKN7 9603736 MGI:1261811 RGD:1561873 602666 123641 HGNC:7594 "ENST00000647165.2|NM_016239.4" HGNC:7594 +HGNC:14083 MYO15B myosin XVB protein-coding gene gene with protein product Approved 17q25.1 17q25.1 MYO15BP myosin XVB pseudogene "Myosin heavy chains, class XV|FERM domain containing" "1105|1293" 2001-06-12 2015-05-12 2021-10-06 80022 ENSG00000266714 OTTHUMG00000179794 uc284ojh.1 NM_001309242 Q96JP2 11294886 MGI:2685534 RGD:1597365 HGNC:14083 +HGNC:29822 MYO16 myosin XVI protein-coding gene gene with protein product Approved 13q33.3 13q33.3 "MYR8|KIAA0865|Myo16b|NYAP3|PPP1R107" "neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3|protein phosphatase 1, regulatory subunit 107" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin heavy chains, class XVI" "403|694|1106" 2007-02-12 2014-11-19 23026 ENSG00000041515 OTTHUMG00000017333 uc001vqt.1 NM_015011 "CCDS32008|CCDS73598" Q9Y6X6 "11588169|17029291|21946561" MGI:2685951 RGD:621561 615479 470712 HGNC:29822 "ENST00000457511.7|NM_001198950.3" +HGNC:39913 MYO16-AS1 MYO16 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 MYO16 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100885782 ENSG00000236242 OTTHUMG00000017335 uc031qng.2 NR_047700 MYO16-AS1 HGNC:39913 +HGNC:39914 MYO16-AS2 MYO16 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 MYO16 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874067 ENSG00000229938 OTTHUMG00000017332 uc058yfa.1 NR_046538 MYO16-AS2 +HGNC:31104 MYO18A myosin XVIIIA protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA0216|MysPDZ" TIAF1 TGFB1-induced anti-apoptotic factor 1 "Myosin heavy chains, class XVIII|PDZ domain containing" "1107|1220" 2004-02-13 2022-01-12 399687 ENSG00000196535 OTTHUMG00000166360 uc002hdt.2 D86970 NM_078471 "CCDS45641|CCDS86587|CCDS45642" Q92614 12761286 MGI:2667185 RGD:1562698 "609517|610067" HGNC:31104 "ENST00000527372.7|NM_078471.4" +HGNC:18150 MYO18B myosin XVIIIB protein-coding gene gene with protein product Approved 22q12.1 22q12.1 BK125H2.1 Myosin heavy chains, class XVIII 1107 2002-04-29 2021-05-26 84700 ENSG00000133454 OTTHUMG00000151129 uc003abz.1 AJ310931 NM_032608 "CCDS54507|CCDS82703" Q8IUG5 "12209013|12547197" MGI:1921626 RGD:1594542 607295 457111 HGNC:18150 "ENST00000335473.12|NM_032608.7" HGNC:18150 +HGNC:40831 MYO18B-AS1 MYO18B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Antisense RNAs 1987 2019-08-16 2019-08-16 2019-08-16 2019-08-16 105372963 ENSG00000231933 OTTHUMG00000150907 XR_007068034 HGNC:40831 +HGNC:26234 MYO19 myosin XIX protein-coding gene gene with protein product Approved 17q12 17q12 FLJ22865 MYOHD1 myosin head domain containing 1 Myosin heavy chains, class XIX 1108 2004-02-24 2007-09-26 2007-09-26 2014-08-12 80179 ENSG00000278259 OTTHUMG00000188437 uc032fdu.2 BC008900 NM_025109 "CCDS59283|CCDS54112|CCDS45654" Q96H55 "17877792|19932026" MGI:1913446 RGD:1559961 617379 HGNC:26234 "ENST00000614623.5|NM_001163735.2" +HGNC:7610 MYOC myocilin protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "TIGR|JOAG1" "trabecular meshwork inducible glucocorticoid response protein|juvenile-onset open-angle glaucoma 1" GLC1A myocilin, trabecular meshwork inducible glucocorticoid response 1997-01-10 2016-03-08 2021-12-07 4653 ENSG00000034971 OTTHUMG00000034789 uc001ghu.4 BC029261 NM_000261 CCDS1297 Q99972 "9169133|9005853" MGI:1202864 RGD:620430 601652 123659 HGNC:7610 "ENST00000037502.11|NM_000261.2" HGNC:7610 +HGNC:16067 MYOCD myocardin protein-coding gene gene with protein product Approved 17p12 17p12 MYCD Myocardin family 1407 2004-03-01 2016-10-05 93649 ENSG00000141052 OTTHUMG00000058767 uc002gnn.4 AF532596 NM_153604 "CCDS54091|CCDS11163" Q8IZQ8 "11439182|12397177" MGI:2137495 RGD:631347 606127 HGNC:16067 "ENST00000425538.6|NM_001146312.3" HGNC:16067 +HGNC:40750 MYOCD-AS1 MYOCD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p12 17p12 Antisense RNAs 1987 2019-08-16 2019-08-16 101928418 ENSG00000227274 OTTHUMG00000058769 NR_104605 HGNC:40750 +HGNC:53429 MYOCOS myocilin opposite strand protein-coding gene gene with protein product Approved 1q24.3 01q24.3 2017-03-31 2017-08-10 110806290 ENSG00000283683 OTTHUMG00000191791 NM_001368164 A0A1B0GUC4 MGI:3642786 HGNC:53429 "ENST00000637642.2|NM_001391940.1" +HGNC:7611 MYOD1 myogenic differentiation 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "PUM|MYOD|bHLHc1" myoblast determination protein 1 MYF3 myogenic factor 3 "Basic helix-loop-helix proteins|Myogenic regulatory family" "420|1609" 1989-06-30 2005-09-12 2021-05-26 4654 ENSG00000129152 OTTHUMG00000166358 uc001mni.4 AF027148 NM_002478 CCDS7826 P15172 MGI:97275 RGD:631429 MYOD1 159970 459238 HGNC:7611 "ENST00000250003.4|NM_002478.5" HGNC:7611 +HGNC:3656 MYOF myoferlin protein-coding gene gene with protein product Approved 10q23.33 10q23.33 KIAA1207 fer-1-like family member 3 FER1L3 "fer-1 (C.elegans)-like 3 (myoferlin)|fer-1-like 3, myoferlin (C. elegans)" Ferlin family 828 1999-12-14 2008-11-26 2008-11-26 2016-10-05 26509 ENSG00000138119 OTTHUMG00000018772 uc001kin.4 AB033033 NM_013451 "CCDS41551|CCDS41550" Q9NZM1 "10607832|10995573|17702744" MGI:1919192 RGD:1564216 604603 HGNC:3656 "ENST00000359263.9|NM_013451.4" +HGNC:7612 MYOG myogenin protein-coding gene gene with protein product Approved 1q32.1 01q32.1 bHLHc3 myogenic factor 4 MYF4 myogenin (myogenic factor 4) "Basic helix-loop-helix proteins|Myogenic regulatory family" "420|1609" 1990-11-20 2016-06-03 2016-10-05 4656 ENSG00000122180 OTTHUMG00000042127 uc001gzd.5 BC053899 NM_002479 CCDS1433 P15173 10329008 MGI:97276 RGD:620432 159980 HGNC:7612 "ENST00000241651.5|NM_002479.6" +HGNC:7613 MYOM1 myomesin 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 skelemin "myomesin 1 (skelemin) (185kD)|myomesin 1 (skelemin) 185kDa|myomesin 1, 185kDa" "I-set domain containing|Myosin binding proteins" "593|658" 1998-12-09 2012-10-17 2021-04-13 8736 ENSG00000101605 OTTHUMG00000178209 uc002klp.3 AF185573 NM_003803 "CCDS45824|CCDS45823" P52179 9806852 MGI:1341430 RGD:631436 LRG_426|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_426.xml 603508 470716 HGNC:7613 "ENST00000356443.9|NM_003803.4" HGNC:7613 +HGNC:7614 MYOM2 myomesin 2 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 "myomesin (M-protein) 2 (165kD)|myomesin (M-protein) 2, 165kDa" "I-set domain containing|Myosin binding proteins|MicroRNA protein coding host genes" "593|658|1691" 1998-12-09 2012-10-17 2014-11-18 9172 ENSG00000036448 OTTHUMG00000129175 uc033azy.2 NM_003970 CCDS5957 P54296 MGI:1328358 RGD:631437 603509 HGNC:7614 "ENST00000262113.9|NM_003970.4" +HGNC:26679 MYOM3 myomesin 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ35961 myomesin family, member 3 "I-set domain containing|Myosin binding proteins" "593|658" 2004-07-06 2012-10-17 2016-10-05 127294 ENSG00000142661 OTTHUMG00000002969 uc001bin.5 AK093280 NM_152372 CCDS41281 Q5VTT5 18177667 MGI:2685280 RGD:1310060 616832 HGNC:26679 "ENST00000374434.4|NM_152372.4" +HGNC:41158 MYOM3-AS1 MYOM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Antisense RNAs 1987 2019-08-16 2019-08-16 107985737 ENSG00000230703 OTTHUMG00000003037 XR_001737930 HGNC:41158 +HGNC:54178 MYOPARR myogenin promoter associated myogenic regulatory antisense long non coding RNA non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Long non-coding RNAs with non-systematic symbols 1992 2019-02-14 2019-02-14 114004358 NR_160550 30622218 MGI:6278009 HGNC:54178 +HGNC:19918 MYORG myogenesis regulating glycosidase (putative) protein-coding gene gene with protein product Approved 9p13.3 09p13.3 NET37 KIAA1161 KIAA1161 Glycoside hydrolase family 31 1413 2003-11-21 2017-07-26 2017-07-26 2018-11-16 57462 ENSG00000164976 OTTHUMG00000019816 uc033cpb.2 AB032987 NM_020702 CCDS78391 Q6NSJ0 "10574461|19706595" MGI:2140300 RGD:1309821 618255 HGNC:19918 "ENST00000297625.8|NM_020702.5" HGNC:19918 +HGNC:51821 MYOSLID myocardin-induced smooth muscle lncRNA, inducer of differentiation non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 Long non-coding RNAs with non-systematic symbols 1992 2016-11-30 2018-08-24 105373853 ENSG00000229647 OTTHUMG00000154787 NR_146555 27444199 618976 HGNC:51821 +HGNC:54063 MYOSLID-AS1 MYOSLID antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.3 02q33.3 Antisense RNAs 1987 2018-09-27 2018-09-27 101927865 NR_110283 HGNC:54063 +HGNC:12399 MYOT myotilin protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "TTID|LGMD1A|LGMD1" "titin immunoglobulin domain protein (myotilin)|limb-girdle muscular dystrophy 1A (autosomal dominant)" I-set domain containing 593 1999-04-16 2005-09-07 2005-09-07 2021-05-26 9499 ENSG00000120729 OTTHUMG00000129154 uc003lbv.4 AF133820 NM_006790 "CCDS4194|CCDS75309|CCDS47268" Q9UBF9 "10486214|10369880" MGI:1889800 RGD:1310569 "Myotilin (TTID) sequence variations|http://www.LOVD.nl/MYOT|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=MYOT|LRG_201|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_201.xml" 604103 123664 HGNC:12399 "ENST00000239926.9|NM_006790.3" HGNC:12399 +HGNC:13752 MYOZ1 myozenin 1 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "FATZ|CS-2" calsarcin-2 MYOZ myozenin Myozenins 1607 2000-10-23 2002-01-11 2002-01-10 2016-10-05 58529 ENSG00000177791 OTTHUMG00000018466 uc001jur.5 AF240633 NM_021245 CCDS7330 Q9NP98 "11171996|10984498" MGI:1929471 RGD:1561064 605603 HGNC:13752 "ENST00000359322.5|NM_021245.4" +HGNC:1330 MYOZ2 myozenin 2 protein-coding gene gene with protein product Approved 4q26 04q26 "CS-1|FATZ-2" calsarcin-1 C4orf5 chromosome 4 open reading frame 5 Myozenins 1607 2000-05-02 2002-01-11 2002-01-07 2021-04-13 51778 ENSG00000172399 OTTHUMG00000132968 uc003icp.4 AF249873 NM_016599 CCDS3711 Q9NPC6 "8619474|9110174" MGI:1913063 RGD:1307669 LRG_396|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_396.xml 605602 264425 HGNC:1330 "ENST00000307128.6|NM_016599.5" HGNC:1330 +HGNC:18565 MYOZ3 myozenin 3 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "CS-3|CS3|FRP3|FATZ-3" "calsarcin 3|FATZ related protein 3" Myozenins 1607 2002-04-26 2018-02-20 91977 ENSG00000164591 OTTHUMG00000130077 uc003lsr.4 AF480443 NM_001122853 CCDS4309 Q8TDC0 11842093 MGI:2179296 RGD:1594778 610735 HGNC:18565 "ENST00000517768.6|NM_001122853.3" +HGNC:40846 MYOZ3-AS1 MYOZ3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q33.1 05q33.1 Antisense RNAs 1987 2021-04-07 2021-04-07 121232373 ENSG00000250309 +HGNC:23246 MYPN myopalladin protein-coding gene gene with protein product Approved 10q21.3 10q21.3 MYOP sarcomeric protein myopalladin, 145 kDa I-set domain containing 593 2004-02-03 2021-05-26 84665 ENSG00000138347 OTTHUMG00000018344 uc001jnm.6 AL834247 NM_032578 CCDS7275 Q86TC9 "11309420|12482578" MGI:1916052 RGD:1308510 LRG_410|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_410.xml 608517 328840 HGNC:23246 "ENST00000358913.10|NM_032578.4" HGNC:23246 +HGNC:20178 MYPOP Myb related transcription factor, partner of profilin protein-coding gene gene with protein product Approved 19q13.32 19q13.32 P42pop p42 Myb-related transcription factor, partner of profilin Myb/SANT domain containing 532 2009-02-23 2016-06-22 2016-06-22 339344 ENSG00000176182 OTTHUMG00000182486 uc002pdt.4 BC044311 NM_001012643 CCDS33055 Q86VE0 15615774 MGI:2446472 RGD:1565160 617861 HGNC:20178 "ENST00000322217.6|NM_001012643.4" +HGNC:1181 MYRF myelin regulatory factor protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "Ndt80|pqn-47|MRF" myelin gene regulatory factor C11orf9 chromosome 11 open reading frame 9 1998-07-30 2012-12-19 2012-12-19 2020-09-17 745 ENSG00000124920 OTTHUMG00000168161 uc001nse.1 NM_013279 "CCDS31579|CCDS44622" Q9Y2G1 "10828591|12384578" MGI:2684944 RGD:1306622 608329 470718 HGNC:1181 "ENST00000278836.10|NM_001127392.3" HGNC:1181 +HGNC:24506 MYRF-AS1 MYRF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 DKFZP434K028 Antisense RNAs 1987 2019-04-24 2021-11-25 26070 ENSG00000124915 NR_026882 12477932 HGNC:24506 +HGNC:26316 MYRFL myelin regulatory factor like protein-coding gene gene with protein product Approved 12q15 12q15 "FLJ25056|bcm1377" "C12orf15|C12orf28" "chromosome 12 open reading frame 15|chromosome 12 open reading frame 28|myelin regulatory factor-like" 2006-01-06 2012-12-19 2018-02-08 2018-02-08 196446 ENSG00000166268 OTTHUMG00000169438 uc001svu.2 AK057785 NM_182530 CCDS76577 Q96LU7 MGI:2685085 RGD:1562127 HGNC:26316 "ENST00000552032.7|NM_182530.3" +HGNC:19156 MYRIP myosin VIIA and Rab interacting protein protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "DKFZp586F1018|exophilin-8|SLAC2-C|SLAC2C" "synaptotagmin-like protein homologue lacking C2 domains-c|rab effector MYRIP|Slp homologue lacking C2 domains" A-kinase anchoring proteins 396 2002-09-13 2020-05-04 25924 ENSG00000170011 OTTHUMG00000131392 uc003cka.5 AF396687 NM_015460 "CCDS68390|CCDS68391|CCDS68392|CCDS2689" Q8NFW9 "11964381|12221080|17827149" MGI:2384407 RGD:727731 611790 HGNC:19156 "ENST00000302541.11|NM_015460.4" +HGNC:29401 MYSM1 Myb like, SWIRM and MPN domains 1 protein-coding gene gene with protein product Approved 1p32.1 01p32.1 KIAA1915 Myb-like, SWIRM and MPN domains 1 "Myb/SANT domain containing|JAMM/MPN+ metallopeptidase family" "532|999" 2005-07-14 2016-02-23 2021-04-13 114803 ENSG00000162601 OTTHUMG00000009533 uc009wab.3 AB067502 NM_001085487 CCDS41343 Q5VVJ2 "11572484|17428495|17707232" MGI:2444584 RGD:1311787 LRG_1411|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1411.xml 612176 470720 M67.005 HGNC:29401 "ENST00000472487.6|NM_001085487.3" HGNC:29401 +HGNC:7622 MYT1 myelin transcription factor 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "MTF1|MYTI|ZC2HC4A|NZF2|ZC2H2C1" neural zinc finger transcription factor 2 PLPB1 Zinc fingers C2H2C-type 1261 1991-08-08 2021-05-26 4661 ENSG00000196132 OTTHUMG00000149988 uc002yii.3 M96980 NM_004535 CCDS13558 Q01538 "1280325|9268380" MGI:1100535 RGD:1304899 600379 HGNC:7622 "ENST00000328439.6|NM_004535.3" +HGNC:7623 MYT1L myelin transcription factor 1 like protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "KIAA1106|NZF1|ZC2HC4B|ZC2H2C2" neural zinc finger transcription factor 1 Zinc fingers C2H2C-type 1261 1996-07-11 2016-01-11 2021-05-26 23040 ENSG00000186487 OTTHUMG00000151407 uc002qxd.4 AF036943 NM_015025 "CCDS46222|CCDS77378" Q9UL68 9373037 MGI:1100511 RGD:620550 613084 470722 HGNC:7623 "ENST00000647738.2|NM_001303052.2" HGNC:7623 +HGNC:49274 MYT1L-AS1 MYT1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 Antisense RNAs 1987 2013-10-15 2013-10-15 730811 ENSG00000225619 OTTHUMG00000151409 NR_024468 MYT1L-AS1 HGNC:49274 +HGNC:43444 MYZAP myocardial zonula adherens protein protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "MYOZAP|Gup|Gup1|GCOM1" myocardium-enriched zonula adherens protein 2011-11-03 2015-08-26 100820829 ENSG00000263155 OTTHUMG00000132453 uc002aei.4 FJ970029 NM_001018100 "CCDS42044|CCDS10162" P0CAP1 "20093627|21992629|22160502" MGI:2142908 RGD:1359197 614071 HGNC:43444 "ENST00000267853.10|NM_001018100.5" +HGNC:30125 MZB1 marginal zone B and B1 cell specific protein protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "PACAP|MGC29506|HSPC190|pERp1|MEDA-7" "plasma cell-induced ER protein 1|proapoptotic caspase adaptor protein|mesenteric oestrogen-dependent adipose gene- 7" marginal zone B and B1 cell-specific protein 2012-09-19 2016-01-27 2016-01-27 51237 ENSG00000170476 OTTHUMG00000163390 uc003lei.4 AF151024 NM_016459 CCDS47273 Q8WU39 "22573353|12573802|11350957|21093319|21688198" MGI:1917066 RGD:1310251 609447 HGNC:30125 "ENST00000302125.9|NM_016459.4" +HGNC:13108 MZF1 myeloid zinc finger 1 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZSCAN6|MZF1B|MZF-1|Zfp98" ZNF42 zinc finger protein 42 (myeloid-specific retinoic acid-responsive) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-11-05 2006-06-15 2006-06-15 2021-04-27 7593 ENSG00000099326 OTTHUMG00000183550 uc002qtn.4 M58297 NM_198055 "CCDS12988|CCDS59427" P28698 1860835 MGI:107457 RGD:1308391 194550 HGNC:13108 "ENST00000215057.7|NM_198055.2" +HGNC:51271 MZF1-AS1 MZF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Antisense RNAs 1987 2014-08-22 2020-10-14 100131691 ENSG00000267858 OTTHUMG00000183549 BC024736 NR_027334 MZF1-AS1 HGNC:51271 +HGNC:33830 MZT1 mitotic spindle organizing protein 1 protein-coding gene gene with protein product Approved 13q21.33 13q21.33 "LOC440145|FLJ21869|MGC150539|RP11-11C5.2|MOZART1" mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1 C13orf37 chromosome 13 open reading frame 37 2008-07-02 2010-07-22 2010-07-22 2016-10-05 440145 ENSG00000204899 OTTHUMG00000017069 uc001viu.3 NM_001071775 CCDS31990 Q08AG7 20360068 MGI:1924039 RGD:1592140 613448 HGNC:33830 "ENST00000377818.4|NM_001071775.3" +HGNC:50605 MZT1P1 mitotic spindle organizing protein 1 pseudogene 1 pseudogene pseudogene Approved 1p36.22 01p36.22 2014-05-22 2014-05-22 106480302 ENSG00000271264 OTTHUMG00000184268 NG_044274 PGOHUM00000244596 HGNC:50605 +HGNC:50606 MZT1P2 mitotic spindle organizing protein 1 pseudogene 2 pseudogene pseudogene Approved 7q34 07q34 2014-05-22 2014-05-22 101929581 ENSG00000271404 OTTHUMG00000184423 PGOHUM00000233592 HGNC:50606 +HGNC:33187 MZT2A mitotic spindle organizing protein 2A protein-coding gene gene with protein product Approved 2q21.1 02q21.1 MOZART2A mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A FAM128A family with sequence similarity 128, member A MicroRNA protein coding host genes 1691 2006-11-22 2010-07-22 2010-07-22 2015-09-04 653784 ENSG00000173272 OTTHUMG00000153606 uc002tsw.5 BC018206 NM_001085365 CCDS42758 Q6P582 20360068 MGI:1922845 RGD:1308126 613449 HGNC:33187 "ENST00000309451.7|NM_001085365.2" +HGNC:25886 MZT2B mitotic spindle organizing protein 2B protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "FLJ14346|MOZART2B" mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B FAM128B family with sequence similarity 128, member B 2006-11-22 2010-07-22 2010-07-22 2015-09-04 80097 ENSG00000152082 OTTHUMG00000131625 uc002tqu.3 BC066296 NM_025029 "CCDS2157|CCDS82511" Q6NZ67 20360068 MGI:1922845 613450 HGNC:25886 "ENST00000281871.11|NM_025029.5" +HGNC:29850 N4BP1 NEDD4 binding protein 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 2008-01-18 2019-04-30 9683 ENSG00000102921 OTTHUMG00000175421 uc002efp.3 AK026937 NM_014664 CCDS45479 O75113 "9734811|11717310" MGI:2136825 RGD:1305179 619138 HGNC:29850 "ENST00000262384.4|NM_153029.4" +HGNC:29851 N4BP2 NEDD4 binding protein 2 protein-coding gene gene with protein product Approved 4p14 04p14 B3BP BCL-3 binding protein 2008-01-18 2015-07-16 55728 ENSG00000078177 OTTHUMG00000128599 uc003guy.5 AB037834 NM_018177 CCDS3457 Q86UW6 "10718198|11717310" MGI:2684414 RGD:1565738 619139 HGNC:29851 "ENST00000261435.11|NM_018177.6" +HGNC:25037 N4BP2L1 NEDD4 binding protein 2 like 1 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 CG018 hypothetical gene CG018 2008-01-18 2016-07-06 2016-07-06 90634 ENSG00000139597 OTTHUMG00000016697 uc001uuc.4 U50527 NM_052818 "CCDS41877|CCDS9345" Q5TBK1 8812419 MGI:2140872 RGD:1595713 HGNC:25037 "ENST00000380130.7|NM_052818.3" +HGNC:26916 N4BP2L2 NEDD4 binding protein 2 like 2 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "CG005|PFAAP5" phosphonoformate immuno-associated protein 5 2008-01-18 2016-07-06 2016-07-06 10443 ENSG00000244754 OTTHUMG00000016700 uc001uuk.5 U50532 NM_014887 "CCDS45024|CCDS9346|CCDS61307" Q92802 8812419 MGI:2687207 RGD:1359603 615788 HGNC:26916 +HGNC:25038 N4BP2L2-IT2 N4BPL2 intronic transcript 2 non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 CG030 N4BPL2 intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2012-09-12 2015-02-25 2015-02-25 116828 ENSG00000281026 OTTHUMG00000189577 uc010tea.2 U50531 NR_026928 8812419 N4BP2L2-IT2 HGNC:25038 +HGNC:29852 N4BP3 NEDD4 binding protein 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 LZTS4 Leucine zipper tumor suppressor family 1314 2010-10-18 2020-04-01 23138 ENSG00000145911 OTTHUMG00000163456 uc003mik.2 AB002339 NM_015111 CCDS34307 O15049 "9205841|11717310" MGI:2442218 RGD:1308356 619140 HGNC:29852 "ENST00000274605.6|NM_015111.2" +HGNC:16021 N6AMT1 N-6 adenine-specific DNA methyltransferase 1 protein-coding gene gene with protein product Approved 21q21.3 21q21.3 "PRED28|N6AMT|MTQ2|KMT9|PrmC" "C21orf127|HEMK2" "chromosome 21 open reading frame 127|HemK methyltransferase family member 2|N-6 adenine-specific DNA methyltransferase 1 (putative)" 7BS protein methyltransferases 2058 2003-12-15 2006-12-14 2017-08-08 2019-08-19 29104 ENSG00000156239 OTTHUMG00000078750 uc002ymo.3 AF139682 NM_013240 "CCDS33525|CCDS33526" Q9Y5N5 "21193388|31061526" MGI:1915018 RGD:1311843 614553 2.1.1.72 HGNC:16021 "ENST00000303775.10|NM_013240.6" +HGNC:18704 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit protein-coding gene gene with protein product Approved Xq28 Xq28 "DXS707|TE2" arrest defective protein 1 "ARD1|ARD1A" "ARD1 homolog, N-acetyltransferase (S. cerevisiae)|ARD1 homolog A, N-acetyltransferase (S. cerevisiae)|N(alpha)-acetyltransferase 10, NatA catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2002-05-29 2010-01-14 2019-11-25 2021-05-26 8260 ENSG00000102030 OTTHUMG00000024225 uc004fjm.3 BC000308 NM_003491 "CCDS59179|CCDS14737" P41227 "7981673|19420222|19660095" MGI:1915255 RGD:1565315 300013 281695 2.3.1.255 HGNC:18704 "ENST00000464845.6|NM_003491.4" HGNC:18704 +HGNC:28125 NAA11 N-alpha-acetyltransferase 11, NatA catalytic subunit protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "ARD2|hARD2" ARD1B "ARD1 homolog B (S. cerevisiae)|N(alpha)-acetyltransferase 11, NatA catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2005-04-08 2010-01-14 2019-11-25 2019-11-25 84779 ENSG00000156269 OTTHUMG00000160913 uc003hlt.5 NM_032693 CCDS47084 Q9BSU3 "16638120|19660095" MGI:2141314 RGD:1564723 619432 2.3.1.255 HGNC:28125 "ENST00000286794.5|NM_032693.3" +HGNC:30782 NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "TBDN100|NATH|FLJ13340" NARG1 "NMDA receptor regulated 1|N(alpha)-acetyltransferase 15, NatA auxiliary subunit" "N-alpha-acetyltransferase subunits|Armadillo like helical domain containing" "660|1492" 2004-12-01 2010-01-14 2019-11-25 2021-05-26 80155 ENSG00000164134 OTTHUMG00000137363 uc003ihu.2 AY039242 NM_057175 CCDS43270 Q9BXJ9 "12140756|19420222|19660095" MGI:1922088 RGD:1310984 608000 470724 HGNC:30782 "ENST00000296543.10|NM_057175.5" HGNC:30782 +HGNC:26164 NAA16 N-alpha-acetyltransferase 16, NatA auxiliary subunit protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "FLJ22054|MGC40612|PRO2435" NARG1L "NMDA receptor regulated 1-like|N(alpha)-acetyltransferase 16, NatA auxiliary subunit" "N-alpha-acetyltransferase subunits|Tetratricopeptide repeat domain containing|Armadillo like helical domain containing" "660|769|1492" 2004-12-01 2010-01-14 2019-11-25 2019-11-25 79612 ENSG00000172766 OTTHUMG00000016791 uc001uyf.2 AL833341 NM_018527 "CCDS9379|CCDS45044" Q6N069 "19480662|19660095" MGI:1914147 RGD:1584324 619497 470726 HGNC:26164 "ENST00000379406.8|NM_024561.5" +HGNC:15908 NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "dJ1002M8.1|NAT3" N-acetyltransferase 3 homolog (S. cerevisiae) NAT5 "N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)|N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)|N-acetyltransferase 5|N-acetyltransferase 5 (GCN5-related, putative)|N(alpha)-acetyltransferase 20, NatB catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2001-06-21 2010-01-14 2019-11-25 2019-11-25 51126 ENSG00000173418 OTTHUMG00000031998 uc002wrp.4 AF085355 NM_016100 "CCDS13141|CCDS13142|CCDS42854" P61599 "18570629|19660095|22814378" MGI:1915127 RGD:1307713 610833 2.3.1.254 HGNC:15908 "ENST00000334982.9|NM_016100.5" +HGNC:55133 NAA20P1 NAA20 pseudogene 1 pseudogene pseudogene Approved Xq26.2 Xq26.2 2020-07-03 2020-07-03 107985691 ENSG00000227064 +HGNC:25783 NAA25 N-alpha-acetyltransferase 25, NatB auxiliary subunit protein-coding gene gene with protein product Approved 12q24.13 12q24.13 FLJ13089 C12orf30 "chromosome 12 open reading frame 30|N(alpha)-acetyltransferase 25, NatB auxiliary subunit" "N-alpha-acetyltransferase subunits|MicroRNA protein coding host genes" "660|1691" 2006-01-17 2010-01-14 2019-11-25 2019-11-25 80018 ENSG00000111300 OTTHUMG00000169638 uc001ttm.4 AB054990 NM_024953 CCDS9159 Q14CX7 "18570629|19660095|22814378" MGI:2442563 RGD:1305685 612755 HGNC:25783 "ENST00000261745.9|NM_024953.4" +HGNC:19844 NAA30 N-alpha-acetyltransferase 30, NatC catalytic subunit protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "FLJ35355|MAK3|Mak3p" "C14orf35|NAT12" "chromosome 14 open reading frame 35|N-acetyltransferase 12|N-acetyltransferase 12 (GCN5-related, putative)|N(alpha)-acetyltransferase 30, NatC catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2002-11-27 2010-01-14 2019-11-25 2020-04-01 122830 ENSG00000139977 OTTHUMG00000171311 uc001xcx.5 AK092674 NM_001011713 CCDS32088 Q147X3 "19398576|19660095" MGI:1922259 RGD:1559923 617989 2.3.1.256 HGNC:19844 "ENST00000556492.6|NM_001011713.3" +HGNC:24340 NAA35 N-alpha-acetyltransferase 35, NatC auxiliary subunit protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "FLJ21613|FLJ22643|bA379P1.1" MAK10 "MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)|N(alpha)-acetyltransferase 35, NatC auxiliary subunit" N-alpha-acetyltransferase subunits 660 2004-05-11 2010-01-14 2019-11-25 2019-11-25 60560 ENSG00000135040 OTTHUMG00000020131 uc004aoi.5 AK025266 NM_024635 CCDS6673 Q5VZE5 "19398576|19660095" MGI:1925939 RGD:621771 619438 HGNC:24340 "ENST00000361671.10|NM_024635.4" +HGNC:28212 NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC14151|PFAAP2" LSMD1 "LSM domain containing 1|N(alpha)-acetyltransferase 38, NatC auxiliary subunit" "N-alpha-acetyltransferase subunits|LSm proteins" "660|1505" 2005-12-15 2014-01-21 2019-11-25 2019-11-25 84316 ENSG00000183011 OTTHUMG00000178023 NM_032356 "CCDS82062|CCDS82059|CCDS82060|CCDS11122" Q9BRA0 "19398576|19660095" MGI:1925554 RGD:1559617 617990 HGNC:28212 "ENST00000575771.6|NM_001320925.4" +HGNC:25845 NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FLJ13848 NAT11 "N-acetyltransferase 11|N-acetyltransferase 11 (GCN5-related, putative)|N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)|N(alpha)-acetyltransferase 40, NatD catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2006-03-10 2010-01-14 2019-11-25 2019-11-25 79829 ENSG00000110583 OTTHUMG00000167784 uc009yoz.4 AK023910 NM_024771 "CCDS8053|CCDS73311" Q86UY6 "19660095|21935442" MGI:1918249 RGD:1565838 HGNC:25845 "ENST00000377793.9|NM_024771.4" +HGNC:29533 NAA50 N-alpha-acetyltransferase 50, NatE catalytic subunit protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "FLJ13194|NAT5|San" "MAK3|NAT13" "Mak3 homolog (S. cerevisiae)|N-acetyltransferase 13|N-acetyltransferase 13 (GCN5-related)|N(alpha)-acetyltransferase 50, NatE catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2004-05-19 2010-01-14 2019-11-25 2019-11-25 80218 ENSG00000121579 OTTHUMG00000159294 uc003ean.3 AK023256 NM_025146 "CCDS77791|CCDS2975" Q9GZZ1 "16507339|17502424|19660095|19744929" MGI:1919367 RGD:1310944 610834 2.3.1.- HGNC:29533 "ENST00000240922.8|NM_025146.4" +HGNC:55920 NAA50P1 NAA50 pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 2021-10-15 2021-10-15 642890 ENSG00000213604 NG_021785 PGOHUM00000290501 +HGNC:25875 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ14154|HAT4|NatF|hNaa60" "Histone acetyltransferase type B protein 4|N-acetyltransferase 15|N-alpha-acetyltransferase F" NAT15 "N-acetyltransferase 15 (GCN5-related, putative)|N(alpha)-acetyltransferase 60, NatF catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2008-09-24 2011-08-02 2019-11-25 2021-12-05 79903 ENSG00000122390 OTTHUMG00000150268 uc002cvh.5 NM_024845 "CCDS81937|CCDS81941|CCDS81940|CCDS81939|CCDS81938|CCDS45396" Q9H7X0 "21750686|25732826" MGI:1922013 RGD:1308915 LRG_1067|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1067.xml 614246 "2.3.1.48|2.3.1.259" HGNC:25875 "ENST00000407558.9|NM_001083601.3" +HGNC:30252 NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FUS2 NAT6 "N-acetyltransferase 6|N(alpha)-acetyltransferase 80, NatH catalytic subunit" "N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases" "660|1134" 2004-05-12 2018-04-18 2019-11-25 2019-11-25 24142 ENSG00000243477 OTTHUMG00000156939 uc003czj.4 AF040705 NM_012191 "CCDS56258|CCDS43095" Q93015 "11929860|11085536|29581253|29581307" MGI:1888902 RGD:6496422 607073 2.3.1.- HGNC:30252 "ENST00000443094.3|NM_001200016.2" +HGNC:736 NAAA N-acylethanolamine acid amidase protein-coding gene gene with protein product Approved 4q21.1 04q21.1 ASAHL N-acylsphingosine amidohydrolase (acid ceramidase)-like 2000-04-13 2008-04-24 2008-04-24 2020-09-17 27163 ENSG00000138744 OTTHUMG00000160855 uc003hjb.4 M92449 NM_001042402 "CCDS87233|CCDS43239" Q02083 "10610717|1446826" MGI:1914361 RGD:1307267 607469 C89.002 objectId:1402 3.5.1.- HGNC:736 "ENST00000286733.9|NM_014435.4" +HGNC:14526 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "NAALADASE2|GCPIII" glutamate carboxypeptidase III M28 metallopeptidases 1444 2001-02-28 2016-05-13 10003 ENSG00000077616 OTTHUMG00000166368 uc001pdf.5 AJ012370 NM_005467 "CCDS8288|CCDS73364" Q9Y3Q0 10085079 MGI:1919810 RGD:1305872 611636 M28.012 objectId:1609 3.4.17.21 HGNC:14526 "ENST00000534061.6|NM_005467.4" +HGNC:23536 NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 HILAP "ileal peptidase I100|human ileal aminopeptidase" M28 metallopeptidases 1444 2003-11-21 2016-08-09 2021-09-20 10004 ENSG00000168060 OTTHUMG00000165595 uc001ocn.4 AF010141 NM_005468 CCDS31604 Q9UQQ1 "10085079|25752612" MGI:2685810 RGD:620987 602640 M28.011 objectId:1608 HGNC:23536 "ENST00000358658.8|NM_005468.3" +HGNC:23219 NAALADL2 N-acetylated alpha-linked acidic dipeptidase like 2 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 glutamate carboxypeptidase II-type non-peptidase homologue "M28 metallopeptidases|MicroRNA protein coding host genes" "1444|1691" 2005-08-17 2016-08-09 2016-10-05 254827 ENSG00000177694 OTTHUMG00000157120 uc003fit.4 NM_207015 CCDS46960 Q58DX5 15168106 MGI:2685867 RGD:1565147 608806 M28.975 HGNC:23219 "ENST00000454872.6|NM_207015.3" +HGNC:41016 NAALADL2-AS1 NAALADL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.3 03q26.3 NAALADL2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874245 ENSG00000225552 OTTHUMG00000157121 uc062qbl.1 NR_046714 NAALADL2-AS1 HGNC:41016 +HGNC:41015 NAALADL2-AS2 NAALADL2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q26.3 03q26.3 NAALADL2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874244 ENSG00000226779 OTTHUMG00000157131 uc062qbi.1 NR_046713 NAALADL2-AS2 HGNC:41015 +HGNC:41014 NAALADL2-AS3 NAALADL2 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3q26.3 03q26.3 NAALADL2 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100862679 ENSG00000230292 OTTHUMG00000157080 uc031scg.2 NR_046390 NAALADL2-AS3 HGNC:41014 +HGNC:7626 NAB1 NGFI-A binding protein 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 EGR1 binding protein 1 NGFI-A binding protein 1 (EGR1 binding protein 1) 1996-10-11 2015-11-13 2016-10-05 4664 ENSG00000138386 OTTHUMG00000132689 uc002usb.4 NM_005966 "CCDS2307|CCDS82545" Q13506 "7624335|8668170|9418898" MGI:107564 RGD:70882 600800 HGNC:7626 "ENST00000337386.10|NM_005966.4" +HGNC:55156 NAB1P1 NAB1 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2020-07-16 2020-07-16 286456 ENSG00000228717 NG_022647 +HGNC:7627 NAB2 NGFI-A binding protein 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 MADER EGR1 binding protein 2 NGFI-A binding protein 2 (EGR1 binding protein 2) 1996-10-11 2016-03-10 2020-04-01 4665 ENSG00000166886 OTTHUMG00000171192 uc001smz.3 BC065931 NM_005967 "CCDS8930|CCDS81701" Q15742 "8668170|8649813" MGI:107563 RGD:1311712 NAB2 602381 326081 HGNC:7627 "ENST00000300131.8|NM_005967.4" +HGNC:26232 NABP1 nucleic acid binding protein 1 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "FLJ22833|DKFZp667M1322|FLJ13624|MGC111163|SSB2|hSSB2|SOSS-B2" "single-stranded DNA-binding protein 2|sensor of single-strand DNA complex subunit B2" "OBFC2A|NABP1-OT1" "oligonucleotide/oligosaccharide-binding fold containing 2A|NABP1 3'UTR overlapping transcript 1" 2006-01-17 2012-06-19 2012-06-19 2022-01-12 64859 ENSG00000173559 OTTHUMG00000132720 uc002usx.4 BC017114 NM_022837 "CCDS33352|CCDS58745" Q96AH0 MGI:1923258 RGD:1306658 612103 330748 HGNC:26232 "ENST00000425611.9|NM_001031716.5" +HGNC:28412 NABP2 nucleic acid binding protein 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "MGC2731|SSB1|hSSB1|SOSS-B1" "single strand DNA-binding protein 1|sensor of single-strand DNA complex subunit B1" OBFC2B oligonucleotide/oligosaccharide-binding fold containing 2B 2006-01-17 2012-06-19 2012-06-19 2014-11-19 79035 ENSG00000139579 OTTHUMG00000152527 uc001ski.4 BC006171 NM_024068 CCDS8911 Q9BQ15 MGI:1917167 RGD:1308158 612104 HGNC:28412 "ENST00000267023.9|NM_024068.4" +HGNC:7629 NACA nascent polypeptide associated complex subunit alpha protein-coding gene gene with protein product Approved 12q23-q24.1 12q23-q24.1 NACA1 nascent-polypeptide-associated complex alpha polypeptide 1995-05-18 2018-04-23 2018-04-23 4666 ENSG00000196531 OTTHUMG00000170033 uc001smc.3 X80909 NM_005594 "CCDS31837|CCDS44925" "E9PAV3|Q13765" 8047162 MGI:106095 RGD:1308642 601234 HGNC:7629 "ENST00000454682.6|NM_001365896.1" +HGNC:23290 NACA2 nascent polypeptide associated complex subunit alpha 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 MGC71999 alpha-NAC protein NACAL nascent-polypeptide-associated complex alpha polypeptide-like 2005-04-07 2007-04-20 2018-04-23 2020-04-01 342538 ENSG00000253506 OTTHUMG00000132321 uc002izj.3 BC062710 NM_199290 CCDS11630 Q9H009 12406326 609274 HGNC:23290 "ENST00000521764.3|NM_199290.4" +HGNC:33442 NACA3P NACA family member 3, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 NACA3 NACA family member 3 pseudogene 2007-04-20 2018-05-23 2018-05-23 389240 ENSG00000121089 OTTHUMG00000161263 NG_005843 PGOHUM00000250798 HGNC:33442 +HGNC:24688 NACA4P NACA family member 4, pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 FKSG17 NACAP1 "nascent-polypeptide-associated complex alpha polypeptide pseudogene 1|nascent polypeptide associated complex alpha subunit pseudogene 1|NACA pseudogene 1" 2005-09-02 2018-05-23 2018-05-23 2018-05-23 83955 ENSG00000228224 OTTHUMG00000164829 AF315951 NR_002182 Q9BZK3 PGOHUM00000303638 HGNC:24688 +HGNC:22196 NACAD NAC alpha domain containing protein-coding gene gene with protein product Approved 7p13 07p13 KIAA0363 2007-04-20 2015-08-26 23148 ENSG00000136274 OTTHUMG00000159170 uc003tmt.4 AB002361 NM_001146334 CCDS47582 O15069 MGI:3603030 RGD:1559824 619419 HGNC:22196 "ENST00000490531.3|NM_001146334.2" +HGNC:49489 NACAP2 NACA pseudogene 2 pseudogene pseudogene Approved 10q26.12 10q26.12 "nascent-polypeptide-associated complex alpha polypeptide pseudogene 2|nascent polypeptide associated complex alpha subunit pseudogene 2" 2013-12-20 2018-04-23 2018-04-23 651144 ENSG00000180230 OTTHUMG00000019162 NG_005845 PGOHUM00000238640 HGNC:49489 +HGNC:49492 NACAP5 NACA pseudogene 5 pseudogene pseudogene Approved 4p15.32 04p15.32 "nascent-polypeptide-associated complex alpha polypeptide pseudogene 5|nascent polypeptide associated complex alpha subunit pseudogene 5" 2013-12-20 2018-04-23 2018-04-23 645108 ENSG00000249488 OTTHUMG00000160274 NG_022007 PGOHUM00000245476 HGNC:49492 +HGNC:49493 NACAP6 NACA pseudogene 6 pseudogene pseudogene Approved 5p15.1 05p15.1 "nascent-polypeptide-associated complex alpha polypeptide pseudogene 6|nascent polypeptide associated complex alpha subunit pseudogene 6" 2013-12-20 2018-04-23 2018-04-23 100132778 ENSG00000248403 OTTHUMG00000161790 NG_021840 PGOHUM00000235130 HGNC:49493 +HGNC:49494 NACAP7 NACA pseudogene 7 pseudogene pseudogene Approved 6q15 06q15 "nascent-polypeptide-associated complex alpha polypeptide pseudogene 7|nascent polypeptide associated complex alpha subunit pseudogene 7" 2013-12-20 2018-04-23 2018-04-23 101059973 ENSG00000218965 OTTHUMG00000015201 NG_046716 PGOHUM00000261424 HGNC:49494 +HGNC:49490 NACAP8 NACA pseudogene 8 pseudogene pseudogene Approved 12q22 12q22 NACAP3 "nascent-polypeptide-associated complex alpha polypeptide pseudogene 3|nascent polypeptide associated complex alpha subunit pseudogene 3|NACA pseudogene 3" 2013-12-20 2018-05-23 2018-05-23 2018-05-23 101928685 ENSG00000257210 OTTHUMG00000170114 PGOHUM00000239545 HGNC:49490 +HGNC:49491 NACAP9 NACA pseudogene 9 pseudogene pseudogene Approved 2p24.3 02p24.3 NACAP4 "nascent-polypeptide-associated complex alpha polypeptide pseudogene 4|nascent polypeptide associated complex alpha subunit pseudogene 4|NACA pseudogene 4" 2013-12-20 2018-05-23 2018-05-23 2018-05-23 100421926 NG_023678 PGOHUM00000261350 HGNC:49491 +HGNC:53906 NACAP10 NACA pseudogene 10 pseudogene pseudogene Approved 8q13.2 08q13.2 2018-05-23 2018-05-23 100132812 ENSG00000254253 OTTHUMG00000164627 NG_022422 PGOHUM00000303579 HGNC:53906 +HGNC:20967 NACC1 nucleus accumbens associated 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "NAC1|NAC-1|BEND8|BTBD30" "nucleus accumbens associated 1|BEN domain containing 8" BTBD14B "BTB (POZ) domain containing 14B|nucleus accumbens associated 1, BEN and BTB (POZ) domain containing" "BEN domain containing|BTB domain containing" "422|861" 2003-12-15 2008-10-03 2016-02-12 2018-06-04 112939 ENSG00000160877 OTTHUMG00000180748 uc002mwm.5 AF395817 NM_052876 CCDS12294 Q96RE7 28132692 MGI:1914080 RGD:621003 610672 HGNC:20967 "ENST00000292431.5|NM_052876.4" HGNC:20967 +HGNC:23846 NACC2 NACC family member 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MGC23427|BEND9|BTBD31" BEN domain containing 9 BTBD14A "BTB (POZ) domain containing 14A|NACC family member 2, BEN and BTB (POZ) domain containing" "BEN domain containing|BTB domain containing" "422|861" 2003-12-15 2008-10-03 2016-02-12 2016-02-12 138151 ENSG00000148411 OTTHUMG00000020921 uc004cgv.4 BC015649 NM_144653 CCDS6993 Q96BF6 12477932 MGI:1915241 RGD:1309292 615786 HGNC:23846 "ENST00000277554.4|NM_144653.5" +HGNC:29831 NADK NAD kinase protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ13052 2005-04-26 2014-11-19 65220 ENSG00000008130 OTTHUMG00000000942 uc001aid.5 BC001709 NM_023018 "CCDS55562|CCDS30565|CCDS55561" O95544 11594753 MGI:2183149 RGD:1642420 611616 2.7.1.23 HGNC:29831 "ENST00000341426.9|NM_023018.5" +HGNC:26404 NADK2 NAD kinase 2, mitochondrial protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "FLJ30596|MNADK" mitochondrial NAD kinase "C5orf33|NADKD1" "chromosome 5 open reading frame 33|NAD kinase domain containing 1" 2006-08-25 2013-04-30 2013-04-30 2021-05-26 133686 ENSG00000152620 OTTHUMG00000131105 BC062567 NM_153013 "CCDS47197|CCDS75235|CCDS3917" Q4G0N4 23616928 MGI:1915896 RGD:1306809 615787 434216 2.7.1.23 HGNC:26404 "ENST00000381937.9|NM_001085411.3" HGNC:26404 +HGNC:41143 NADK2-AS1 NADK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 NADKD1-AS1 NADKD1 antisense RNA 1 Antisense RNAs 1987 2012-10-01 2013-04-30 2013-04-30 2014-11-19 101056700 ENSG00000245711 OTTHUMG00000162149 BC033402 NR_170324 NADK2-AS1 +HGNC:29832 NADSYN1 NAD synthetase 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FLJ10631 MicroRNA protein coding host genes 1691 2005-09-09 2015-07-22 55191 ENSG00000172890 OTTHUMG00000167375 uc001oqn.4 AB091316 NM_018161 CCDS8201 Q6IA69 12547821 MGI:1926164 RGD:727801 608285 HGNC:29832 "ENST00000319023.7|NM_018161.5" HGNC:29832 +HGNC:621 NAE1 NEDD8 activating enzyme E1 subunit 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "ula-1|APP-BP1" APPBP1 amyloid beta precursor protein binding protein 1, 59kDa Ubiquitin like modifier activating enzymes 100 1999-01-13 2007-12-11 2007-12-11 2020-09-17 8883 ENSG00000159593 OTTHUMG00000137513 uc002eqf.4 U50939 NM_003905 "CCDS67050|CCDS10820|CCDS42171|CCDS42172" Q13564 "8626687|12740388" MGI:2384561 RGD:619945 603385 HGNC:621 "ENST00000290810.8|NM_003905.4" +HGNC:25126 NAF1 nuclear assembly factor 1 ribonucleoprotein protein-coding gene gene with protein product Approved 4q32.2 04q32.2 nuclear assembly factor 1 homolog (S. cerevisiae) Ribosomal biogenesis factors 1729 2008-02-26 2013-03-05 2021-05-26 92345 ENSG00000145414 OTTHUMG00000161370 uc003iqj.4 NM_138386 "CCDS47159|CCDS3803" Q96HR8 "16618814|16601202" MGI:2682306 RGD:1306802 617868 HGNC:25126 "ENST00000274054.3|NM_138386.3" +HGNC:7631 NAGA alpha-N-acetylgalactosaminidase protein-coding gene gene with protein product Approved 22q13.2 22q13.2 D22S674 alpha-galactosidase B N-acetylgalactosaminidase, alpha- Galactosidases alpha 1655 1986-01-01 2016-05-12 2018-07-31 4668 ENSG00000198951 OTTHUMG00000151276 uc003bbw.5 NM_000262 CCDS14030 P17050 MGI:1261422 RGD:1306025 104170 123669 3.2.1.49 HGNC:7631 "ENST00000396398.8|NM_000262.3" HGNC:7631 +HGNC:17174 NAGK N-acetylglucosamine kinase protein-coding gene gene with protein product Approved 2p13.3 02p13.3 GNK 2001-11-16 2016-04-25 55577 ENSG00000124357 OTTHUMG00000153239 uc061kll.1 AJ242910 NM_001330425 CCDS82466 Q9UJ70 10824116 MGI:1860418 RGD:1305057 606828 2.7.1.59 HGNC:17174 "ENST00000244204.11|NM_017567.6" +HGNC:7632 NAGLU N-acetyl-alpha-glucosaminidase protein-coding gene gene with protein product Approved 17q21.2 17q21.2 NAG Sanfilippo disease IIIB N-acetylglucosaminidase, alpha Glycoside hydrolases 1650 1995-09-15 2016-04-01 2016-04-01 4669 ENSG00000108784 OTTHUMG00000180240 uc002hzv.4 NM_000263 CCDS11427 P54802 MGI:1351641 RGD:1564228 609701 123672 3.2.1.50 HGNC:7632 "ENST00000225927.7|NM_000263.4" HGNC:7632 +HGNC:17378 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "APAA|UCE" 2003-04-03 2014-11-19 51172 ENSG00000103174 OTTHUMG00000090515 uc002cyg.4 AF187072 NM_016256 CCDS10527 Q9UK23 "10551838|12058031" MGI:1351598 RGD:1308972 607985 3.1.4.45 HGNC:17378 "ENST00000312251.8|NM_016256.4" +HGNC:44184 NAGPA-AS1 NAGPA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 NAGPA antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100507589 AK055222 NR_038913 NAGPA-AS1 HGNC:44184 +HGNC:17996 NAGS N-acetylglutamate synthase protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "AGAS|ARGA|NAT7" GCN5 related N-acetyltransferases 1134 2004-12-03 2020-04-02 162417 ENSG00000161653 OTTHUMG00000181802 uc002ies.4 AY116537 NM_153006 CCDS11473 Q8N159 "15050968|12459178" MGI:2387600 RGD:1565783 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NAGS 608300 123675 HGNC:17996 "ENST00000293404.8|NM_153006.3" HGNC:17996 +HGNC:25446 NAIF1 nuclear apoptosis inducing factor 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "DKFZp762G199|bA379C10.2" nuclear apoptosis-inducing factor 1 C9orf90 chromosome 9 open reading frame 90 2004-02-19 2008-04-10 2008-04-10 2015-08-25 203245 ENSG00000171169 OTTHUMG00000020727 uc004bta.4 AK122729 NM_197956 CCDS6889 Q69YI7 "14702039|16378748" MGI:1918504 RGD:1597546 610673 HGNC:25446 "ENST00000373078.5|NM_197956.4" +HGNC:7634 NAIP NLR family apoptosis inhibitory protein protein-coding gene gene with protein product Approved 5q13.2 05q13.2 NLRB1 "nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1|NLR family, BIR domain containing 1" BIRC1 baculoviral IAP repeat-containing 1 "Baculoviral IAP repeat containing|NLR family" "419|666" 1998-05-14 2006-12-08 2016-06-01 2016-06-01 4671 ENSG00000249437 OTTHUMG00000163318 uc003kar.2 U19251 NM_004536 "CCDS4009|CCDS43327" Q13075 7813013 "MGI:1298220|MGI:1298222|MGI:1298223|MGI:1298226" RGD:621281 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 600355 123680 I32.001 objectId:2793 HGNC:7634 "ENST00000517649.6|NM_004536.3" +HGNC:54492 NAIPP1 NAIP pseudogene 1 pseudogene pseudogene Approved 5q13.2 05q13.2 2019-08-28 2019-08-28 728535 ENSG00000250687 OTTHUMG00000162475 NG_006114 PGOHUM00000300995 HGNC:54492 +HGNC:16042 NAIPP2 NAIP pseudogene 2 pseudogene pseudogene Approved 5q13.2 05q13.2 "BIRC|NAIP1B" 2019-08-28 2019-08-28 728519 ENSG00000179978 OTTHUMG00000162450 NG_008752 "9503025|10369862" PGOHUM00000300616 HGNC:16042 +HGNC:54493 NAIPP3 NAIP pseudogene 3 pseudogene pseudogene Approved 5q13.2 05q13.2 2019-08-28 2019-08-28 643784 ENSG00000248477 OTTHUMG00000162451 NG_006087 PGOHUM00000300986 HGNC:54493 +HGNC:54494 NAIPP4 NAIP pseudogene 4 pseudogene pseudogene Approved 5q13.2 05q13.2 2019-08-28 2020-11-11 653406 ENSG00000251634 OTTHUMG00000099405 NG_006112 PGOHUM00000300625 HGNC:54494 +HGNC:19082 NALCN sodium leak channel, non-selective protein-coding gene gene with protein product Approved 13q32.3-q33.1 13q32.3-q33.1 "bA430M15.1|CanIon" VGCNL1 voltage gated channel like 1 Sodium leak channels, non selective 283 2002-08-09 2007-04-26 2016-02-05 2021-05-26 259232 ENSG00000102452 OTTHUMG00000017295 uc001vox.2 AY141972 NM_052867 CCDS9498 Q8IZF0 17448995 MGI:2444306 RGD:628710 611549 376877 objectId:750 HGNC:19082 "ENST00000251127.11|NM_052867.4" HGNC:19082 +HGNC:42743 NALCN-AS1 NALCN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 NALCN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-18 2012-08-15 2016-10-05 100885778 ENSG00000233009 OTTHUMG00000017294 uc031qnb.1 NR_047687 NALCN-AS1 HGNC:42743 +HGNC:33877 NALF1 NALCN channel auxiliary factor 1 protein-coding gene gene with protein product Approved 13q33.3 13q33.3 NLF-1 FAM155A family with sequence similarity 155 member A MicroRNA protein coding host genes 1691 2008-04-15 2021-04-16 2021-04-16 2021-04-16 728215 ENSG00000204442 OTTHUMG00000017326 uc001vql.4 L10374 NM_001080396 CCDS32006 B1AL88 "24639627|32494638|32698188" MGI:2142765 RGD:1559498 HGNC:33877 "ENST00000375915.4|NM_001080396.3" +HGNC:41503 NALF1-IT1 NALF1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q33.3 13q33.3 FAM155A-IT1 "FAM155A intronic transcript 1 (non-protein coding)|FAM155A intronic transcript 1" Intronic transcripts 1989 2011-08-15 2021-04-16 2021-04-16 2021-04-16 100874375 ENSG00000227248 OTTHUMG00000017327 uc001vqm.5 NR_046848 FAM155A-IT1 HGNC:41503 +HGNC:30701 NALF2 NALCN channel auxiliary factor 2 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 TED "TMEM28|CXorf63|FAM155B" "transmembrane protein 28|chromosome X open reading frame 63|family with sequence similarity 155 member B" 2004-06-02 2021-04-16 2021-04-16 2021-04-16 27112 ENSG00000130054 OTTHUMG00000021756 uc004dxk.4 AF087142 NM_015686 CCDS35317 O75949 MGI:3648377 RGD:1584125 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM155B HGNC:30701 "ENST00000252338.5|NM_015686.3" +HGNC:51192 NALT1 NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 TCONS_l2_00029132 "MIR4674HG|LINC01573" "MIR4674 host gene (non-protein coding)|long intergenic non-protein coding RNA 1573" Long non-coding RNAs with non-systematic symbols 1992 2014-08-01 2015-09-18 2017-12-06 2018-08-24 101928483 ENSG00000237886 OTTHUMG00000020933 NR_121577 26330272 NALT1 HGNC:51192 +HGNC:42408 NAMA non-protein coding RNA, associated with MAP kinase pathway and growth arrest non-coding RNA RNA, long non-coding Approved 9q22.33 09q22.33 Long non-coding RNAs with non-systematic symbols 1992 2011-08-02 2020-04-20 100996569 ENSG00000271086 uc004azm.3 DQ673922 NR_102270 17415708 HGNC:42408 +HGNC:30092 NAMPT nicotinamide phosphoribosyltransferase protein-coding gene gene with protein product Approved 7q22.3 07q22.3 PBEF visfatin PBEF1 pre-B-cell colony enhancing factor 1 2004-02-02 2008-03-27 2008-03-27 2014-11-19 10135 ENSG00000105835 OTTHUMG00000140388 uc003vdq.4 U02020 NM_182790 CCDS5737 P43490 8289818 MGI:1929865 RGD:631365 608764 HGNC:30092 "ENST00000222553.8|NM_005746.3" +HGNC:17633 NAMPTP1 nicotinamide phosphoribosyltransferase pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 bA92J19.4 "PBEF2|NAMPTL" "pre-B-cell colony enhancing factor 2|nicotinamide phosphoribosyltransferase-like" 2004-05-27 2014-10-01 2014-10-01 2014-10-01 646309 ENSG00000229644 OTTHUMG00000017964 NG_005593 8289818 HGNC:17633 +HGNC:51314 NAMPTP2 nicotinamide phosphoribosyltransferase pseudogene 2 pseudogene pseudogene Approved 5q31.3 05q31.3 2014-10-01 2014-10-01 100132712 ENSG00000249229 OTTHUMG00000163347 NG_021864 HGNC:51314 +HGNC:51313 NAMPTP3 nicotinamide phosphoribosyltransferase pseudogene 3 pseudogene pseudogene Approved 16p11.2 16p11.2 2014-10-01 2014-10-01 2017-03-10 106480319 ENSG00000261053 OTTHUMG00000176226 NG_044420 PGOHUM00000293828 HGNC:51313 +HGNC:20857 NANOG Nanog homeobox protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "FLJ12581|FLJ40451" NKL subclass homeoboxes and pseudogenes 519 2003-09-10 2014-11-19 79923 ENSG00000111704 OTTHUMG00000166019 uc009zfy.2 AB093576 NM_024865 "CCDS73436|CCDS31736" Q9H9S0 "12787505|12787504" MGI:1919200 RGD:1303178 607937 8536 HGNC:20857 "ENST00000229307.9|NM_024865.4" +HGNC:24958 NANOGNB NANOG neighbor homeobox protein-coding gene gene with protein product Approved 12p13.31 12p13.31 homeobox C14 2010-06-25 2010-07-08 2015-04-07 360030 ENSG00000205857 OTTHUMG00000165107 uc009zfx.2 NM_001145465 CCDS44826 Q7Z5D8 21679462 9099 HGNC:24958 "ENST00000382119.1|NM_001145465.1" +HGNC:42158 NANOGNBP1 NANOGNB pseudogene 1 pseudogene pseudogene Approved 2q11.2 02q11.2 2011-06-02 2012-03-15 100859926 ENSG00000226034 OTTHUMG00000153162 NG_031948 PGOHUM00000240818 HGNC:42158 +HGNC:42159 NANOGNBP2 NANOGNB pseudogene 2 pseudogene pseudogene Approved 12q24.33 12q24.33 2011-06-02 2011-06-02 101060006 ENSG00000256563 OTTHUMG00000167935 NG_046626 PGOHUM00000239619 HGNC:42159 +HGNC:42160 NANOGNBP3 NANOGNB pseudogene 3 pseudogene pseudogene Approved Xq22.1 Xq22.1 2011-06-02 2017-10-30 100652831 ENSG00000270813 OTTHUMG00000185071 NG_032794 PGOHUM00000304779 HGNC:42160 +HGNC:23099 NANOGP1 Nanog homeobox pseudogene 1 pseudogene pseudogene Approved 12p13.31 12p13.31 NANOG2 NKL subclass homeoboxes and pseudogenes 519 2004-11-17 2017-10-02 404635 ENSG00000176654 OTTHUMG00000187943 AY455283 NG_006522 Q8N7R0 "15108323|15233988" MGI:1919200 8415 PGOHUM00000291524 HGNC:23099 +HGNC:23100 NANOGP2 Nanog homeobox pseudogene 2 pseudogene pseudogene Approved 2q36.1 02q36.1 NANOGP4 NKL subclass homeoboxes and pseudogenes 519 2004-11-17 2016-08-01 414131 ENSG00000228670 OTTHUMG00000153388 NG_004099 "15108323|15233988" 8384 PGOHUM00000298328 HGNC:23100 +HGNC:23101 NANOGP3 Nanog homeobox pseudogene 3 pseudogene pseudogene Approved 6p12.1 06p12.1 NKL subclass homeoboxes and pseudogenes 519 2003-10-07 2016-08-15 340217 ENSG00000271373 OTTHUMG00000184573 NG_004095 8385 PGOHUM00000301389 HGNC:23101 +HGNC:23102 NANOGP4 Nanog homeobox pseudogene 4 pseudogene pseudogene Approved 7p14.3 07p14.3 NANOGP2 NKL subclass homeoboxes and pseudogenes 519 2004-11-17 2016-08-15 414132 ENSG00000237065 OTTHUMG00000152732 AY455277 NG_004100 "15108323|15233988" 8386 PGOHUM00000306605 HGNC:23102 +HGNC:23103 NANOGP5 Nanog homeobox pseudogene 5 pseudogene pseudogene Approved 9q31.1 09q31.1 NKL subclass homeoboxes and pseudogenes 519 2004-11-17 2016-08-15 414133 ENSG00000231697 OTTHUMG00000020362 NG_004101 15233988 8387 PGOHUM00000304419 HGNC:23103 +HGNC:23104 NANOGP6 Nanog homeobox pseudogene 6 pseudogene pseudogene Approved 10q24.2 10q24.2 NKL subclass homeoboxes and pseudogenes 519 2006-06-29 2016-08-15 414134 ENSG00000227351 OTTHUMG00000018891 NG_004102 15233988 8388 PGOHUM00000289975 HGNC:23104 +HGNC:23105 NANOGP7 Nanog homeobox pseudogene 7 pseudogene pseudogene Approved 14q32.12 14q32.12 NANOGP3 NKL subclass homeoboxes and pseudogenes 519 2004-11-17 2016-08-15 414130 ENSG00000258774 OTTHUMG00000171119 AY455278 NG_004098 "15108323|15233988" 8389 PGOHUM00000292436 HGNC:23105 +HGNC:23106 NANOGP8 Nanog homeobox retrogene P8 protein-coding gene gene with protein product Approved 15q14 15q14 Nanog homeobox pseudogene 8 NKL subclass homeoboxes and pseudogenes 519 2003-10-07 2017-11-02 2021-10-06 388112 ENSG00000255192 OTTHUMG00000166041 uc032bzh.2 NM_001355281 CCDS86444 Q6NSW7 23173096 MGI:1919200 8390 HGNC:23106 "ENST00000528386.4|NM_001355281.2" +HGNC:23107 NANOGP9 Nanog homeobox pseudogene 9 pseudogene pseudogene Approved Xq12 Xq12 NKL subclass homeoboxes and pseudogenes 519 2003-10-07 2016-08-15 349386 ENSG00000231809 OTTHUMG00000021724 NG_004097 8391 PGOHUM00000304671 HGNC:23107 +HGNC:23108 NANOGP10 Nanog homeobox pseudogene 10 pseudogene pseudogene Approved Xp11.3 Xp11.3 NKL subclass homeoboxes and pseudogenes 519 2003-10-07 2016-08-15 349372 ENSG00000231750 OTTHUMG00000021386 NG_004096 8392 PGOHUM00000304572 HGNC:23108 +HGNC:32941 NANOGP11 Nanog homeobox pseudogene 11 pseudogene pseudogene Approved 6q25.2 06q25.2 NKL subclass homeoboxes and pseudogenes 519 2006-06-29 2017-10-30 414135 ENSG00000233464 OTTHUMG00000015847 uc063siz.1 NG_004103 15233988 8393 HGNC:32941 +HGNC:23044 NANOS1 nanos C2HC-type zinc finger 1 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "NOS1|ZC2HC12A" nanos homolog 1 (Drosophila) Zinc fingers C2HC-type 66 2003-12-01 2016-06-01 2021-05-26 340719 ENSG00000188613 OTTHUMG00000019141 uc009xzf.2 AF275269 NM_199461 CCDS7607 Q8WY41 12690449 MGI:2669254 RGD:1308194 608226 356158 HGNC:23044 "ENST00000425699.3|NM_199461.4" HGNC:23044 +HGNC:23292 NANOS2 nanos C2HC-type zinc finger 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "NOS2|ZC2HC12B" nanos homolog 2 (Drosophila) Zinc fingers C2HC-type 66 2003-12-01 2016-06-01 2020-04-01 339345 ENSG00000188425 OTTHUMG00000182487 uc002pdu.4 BC042883 NM_001029861 CCDS33056 P60321 "12947200|12690449" MGI:2676627 RGD:1562436 608228 HGNC:23292 "ENST00000341294.4|NM_001029861.3" +HGNC:22048 NANOS3 nanos C2HC-type zinc finger 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "NANOS1L|NOS3|ZC2HC12C" nanos homolog 3 (Drosophila) Zinc fingers C2HC-type 66 2003-12-01 2016-06-01 2020-09-07 342977 ENSG00000187556 OTTHUMG00000181850 uc002mxj.5 BM702754 NM_001098622 CCDS42511 P60323 MGI:2675387 RGD:1306672 608229 470784 HGNC:22048 "ENST00000339133.6|NM_001098622.3" +HGNC:16140 NANP N-acetylneuraminic acid phosphatase protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "dJ694B14.3|MGC26833" "C20orf147|HDHD4" "chromosome 20 open reading frame 147|haloacid dehalogenase-like hydrolase domain containing 4" "HAD Asp-based non-protein phosphatases|Haloacid dehalogenase like hydrolase domain containing" "1045|1377" 2001-07-17 2006-01-24 2006-01-24 2016-10-05 140838 ENSG00000170191 OTTHUMG00000032132 uc002wuy.5 AL031673 NM_152667 CCDS13173 Q8TBE9 16237198 MGI:1914561 RGD:1306009 610763 3.1.3.29 HGNC:16140 "ENST00000304788.4|NM_152667.3" +HGNC:19237 NANS N-acetylneuraminate synthase protein-coding gene gene with protein product Approved 9q22.33 09q22.33 SAS sialic acid synthase N-acetylneuraminic acid synthase 2002-12-16 2015-11-27 2018-07-06 54187 ENSG00000095380 OTTHUMG00000020341 uc004ayc.4 AF161387 NM_018946 CCDS6733 Q9NR45 "10749855|27213289" MGI:2149820 RGD:1311943 605202 459340 "2.5.1.56|2.5.1.57" HGNC:19237 "ENST00000210444.6|NM_018946.4" HGNC:19237 +HGNC:7637 NAP1L1 nucleosome assembly protein 1 like 1 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "NRP|NAP1|NAP1L|MGC8688|MGC23410" nucleosome assembly protein 1-like 1 1996-09-03 2016-03-10 2016-03-10 4673 ENSG00000187109 OTTHUMG00000169786 uc001sxx.3 NM_139207 "CCDS81715|CCDS9013|CCDS76581" P55209 8297347 MGI:1855693 RGD:71094 164060 HGNC:7637 "ENST00000618691.5|NM_004537.7" +HGNC:38004 NAP1L1P1 nucleosome assembly protein 1 like 1 pseudogene 1 pseudogene pseudogene Approved 11q24.2 11q24.2 nucleosome assembly protein 1-like 1 pseudogene 1 2010-03-17 2016-03-10 2016-03-10 729561 ENSG00000254759 OTTHUMG00000165873 NG_021838 PGOHUM00000261126 HGNC:38004 +HGNC:38005 NAP1L1P2 nucleosome assembly protein 1 like 1 pseudogene 2 pseudogene pseudogene Approved Yp11.2 Yp11.2 nucleosome assembly protein 1-like 1 pseudogene 2 2010-03-17 2016-03-10 2016-10-05 100128894 ENSG00000229163 OTTHUMG00000036154 NG_021905 PGOHUM00000261822 HGNC:38005 +HGNC:38007 NAP1L1P3 nucleosome assembly protein 1 like 1 pseudogene 3 pseudogene pseudogene Approved 3q13.33 03q13.33 nucleosome assembly protein 1-like 1 pseudogene 3 2010-03-18 2016-03-10 2016-03-10 100130335 ENSG00000213371 OTTHUMG00000159666 NG_022267 PGOHUM00000238149 HGNC:38007 +HGNC:7638 NAP1L2 nucleosome assembly protein 1 like 2 protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 "BPX|MGC26243" nucleosome assembly protein 1-like 2 1996-09-03 2016-03-10 2020-04-02 4674 ENSG00000186462 OTTHUMG00000021827 uc004ebi.4 AF136178 NM_021963 CCDS14423 Q9ULW6 8789438 MGI:106654 RGD:1563260 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NAP1L2 300026 HGNC:7638 "ENST00000373517.4|NM_021963.4" +HGNC:7639 NAP1L3 nucleosome assembly protein 1 like 3 protein-coding gene gene with protein product Approved Xq21.32 Xq21.32 "MB20|NPL3|MGC26312" nucleosome assembly protein 1-like 3 1996-09-03 2016-03-10 2020-04-02 4675 ENSG00000186310 OTTHUMG00000021974 uc004efq.4 NM_004538 CCDS14465 Q99457 8976385 MGI:1859565 RGD:620990 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NAP1L3 300117 HGNC:7639 "ENST00000373079.4|NM_004538.6" +HGNC:7640 NAP1L4 nucleosome assembly protein 1 like 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 NAP2 nucleosome assembly protein 1-like 4 Small nucleolar RNA protein coding host genes 1835 1997-06-09 2016-03-10 2016-10-05 4676 ENSG00000205531 OTTHUMG00000011009 uc001lxc.4 "AA573896|BC022090|U77456" NM_005969 CCDS41599 Q99733 8923002 MGI:1316687 RGD:1305391 601651 HGNC:7640 "ENST00000380542.9|NM_005969.4" +HGNC:39740 NAP1L4P1 nucleosome assembly protein 1 like 4 pseudogene 1 pseudogene pseudogene Approved 1p13.1 01p13.1 nucleosome assembly protein 1-like 4 pseudogene 1 2011-03-24 2016-03-10 2016-03-10 728589 ENSG00000177173 OTTHUMG00000022753 NG_006955 PGOHUM00000244155 HGNC:39740 +HGNC:39739 NAP1L4P2 nucleosome assembly protein 1 like 4 pseudogene 2 pseudogene pseudogene Approved Xq22.3 Xq22.3 nucleosome assembly protein 1-like 4 pseudogene 2 2011-03-24 2016-03-10 2016-03-10 100874319 ENSG00000224816 OTTHUMG00000022148 NG_032355 PGOHUM00000241492 HGNC:39739 +HGNC:39738 NAP1L4P3 nucleosome assembly protein 1 like 4 pseudogene 3 pseudogene pseudogene Approved 13q14.2 13q14.2 nucleosome assembly protein 1-like 4 pseudogene 3 2011-03-24 2016-03-10 2016-03-10 730174 ENSG00000234145 OTTHUMG00000016883 NG_021968 HGNC:39738 +HGNC:19968 NAP1L5 nucleosome assembly protein 1 like 5 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 DRLM nucleosome assembly protein 1-like 5 2004-02-04 2016-03-10 2021-04-13 266812 ENSG00000177432 OTTHUMG00000130950 uc003hrx.4 NM_153757 CCDS3632 Q96NT1 12383514 MGI:1923555 RGD:1584123 LRG_1072|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1072.xml 612203 HGNC:19968 "ENST00000323061.7|NM_153757.4" +HGNC:31706 NAP1L6P nucleosome assembly protein 1 like 6, pseudogene pseudogene pseudogene Approved Xq13.2 Xq13.2 FLJ33596 NAP1L6 "nucleosome assembly protein 1-like 6|nucleosome assembly protein 1 like 6" 2006-07-04 2019-07-17 2019-07-17 2020-04-02 645996 ENSG00000204118 OTTHUMG00000021826 uc004ebh.2 AK090915 NR_027291 A6NFF2 RGD:7580932 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NAP1L6 HGNC:31706 +HGNC:7641 NAPA NSF attachment protein alpha protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "alpha SNAP|alpha soluble NSF attachment protein" N-ethylmaleimide-sensitive factor attachment protein, alpha 1998-12-17 2015-12-16 2015-12-16 8775 ENSG00000105402 OTTHUMG00000183294 uc002pha.3 U39412 NM_003827 CCDS12702 P54920 9269766 MGI:104563 RGD:620855 603215 HGNC:7641 "ENST00000263354.8|NM_003827.4" +HGNC:44118 NAPA-AS1 NAPA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.32-q13.33 19q13.32-q13.33 NAPA antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2020-10-09 100505681 ENSG00000268061 OTTHUMG00000183420 uc021uwo.2 AK057858 NR_038452 NAPA-AS1 HGNC:44118 +HGNC:15751 NAPB NSF attachment protein beta protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "SNAP-BETA|SNAPB" beta soluble NSF attachment protein N-ethylmaleimide-sensitive factor attachment protein, beta 2001-05-30 2015-12-16 2016-10-05 63908 ENSG00000125814 OTTHUMG00000032062 uc002wta.4 AK022817 NM_022080 "CCDS63242|CCDS13152|CCDS74710|CCDS63241" Q9H115 8455721 MGI:104562 RGD:1589649 611270 HGNC:15751 "ENST00000377026.4|NM_022080.3" +HGNC:21683 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FMP30|C7orf18|NAPE-PLD" chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D Metallo-beta-lactamase fold containing family 1613 2008-01-10 2014-11-19 222236 ENSG00000161048 OTTHUMG00000157204 uc003vbc.3 "BC037350|AY357337" NM_198990 CCDS5729 Q6IQ20 "14634025|15820312|18067139" MGI:2140885 RGD:735197 612334 objectId:1398 3.1.4.54 HGNC:21683 "ENST00000465647.6|NM_001122838.3" +HGNC:7642 NAPG NSF attachment protein gamma protein-coding gene gene with protein product Approved 18p11.22 18p11.22 gamma SNAP N-ethylmaleimide-sensitive factor attachment protein, gamma 1998-12-17 2016-02-01 2016-10-05 8774 ENSG00000134265 OTTHUMG00000179119 uc002kon.4 U78107 NM_003826 CCDS45827 Q99747 9269766 MGI:104561 RGD:1310109 603216 HGNC:7642 "ENST00000322897.11|NM_003826.3" +HGNC:45165 NAPGP1 N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 1 pseudogene pseudogene Approved 10q23.31 10q23.31 2013-02-28 2016-08-16 100288843 ENSG00000271408 OTTHUMG00000184643 NG_022185 PGOHUM00000290239 HGNC:45165 +HGNC:45166 NAPGP2 N-ethylmaleimide-sensitive factor attachment protein, gamma pseudogene 2 pseudogene pseudogene Approved 6p21.33 06p21.33 2013-02-28 2017-08-01 100422429 ENSG00000275906 OTTHUMG00000187607 NG_025807 PGOHUM00000301322 HGNC:45166 +HGNC:30450 NAPRT nicotinate phosphoribosyltransferase protein-coding gene gene with protein product Approved 8q24.3 08q24.3 PP3856 NAPRT1 nicotinate phosphoribosyltransferase domain containing 1 2005-08-11 2014-06-26 2014-06-26 2014-11-18 93100 ENSG00000147813 OTTHUMG00000156942 AF258565 NM_145201 "CCDS6403|CCDS69555" Q6XQN6 "17604275|21742010" MGI:2442664 RGD:1302945 611552 6.3.4.21 HGNC:30450 "ENST00000449291.7|NM_145201.6" +HGNC:13395 NAPSA napsin A aspartic peptidase protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "NAP1|NAPA|Kdap|KAP" kidney-derived aspartic protease-like protein Peptidase family A1 1928 2004-06-09 2019-08-21 9476 ENSG00000131400 OTTHUMG00000183035 uc002prx.4 AF090386 NM_004851 CCDS12794 O96009 MGI:109365 RGD:61940 605631 A01.046 HGNC:13395 "ENST00000253719.7|NM_004851.3" +HGNC:13396 NAPSB napsin B aspartic peptidase, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 "NAP1L|NAP2|NAPB|NAPSBP" Peptidase family A1 1928 2004-06-09 2012-08-22 2014-11-19 256236 ENSG00000131401 OTTHUMG00000166192 AF090387 XR_000169 "9877162|10591213" PGOHUM00000263659 A01.P01 HGNC:13396 +HGNC:29916 NARF nuclear prelamin A recognition factor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ10067|DKFZp434G0420|IOP2" iron-only hydrogenase-like protein 2 2005-11-22 2014-11-19 26502 ENSG00000141562 OTTHUMG00000178844 uc002kfg.5 BC000438 NM_031968 "CCDS32777|CCDS42403|CCDS42404" Q9UHQ1 "10514485|15667261" MGI:1914858 RGD:1310894 605349 HGNC:29916 "ENST00000309794.16|NM_012336.4" +HGNC:53622 NARF-AS1 NARF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 ENST00000582249.1 Antisense RNAs 1987 2017-07-26 2017-07-26 111082991 ENSG00000266445 OTTHUMG00000178839 BQ877948 28732507 +HGNC:55327 NARF-AS2 NARF antisense RNA 2 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Antisense RNAs 1987 2020-10-21 2020-10-21 2020-10-21 2020-10-21 105371941 ENSG00000265458 XR_007065960 +HGNC:43651 NARF-IT1 NARF intronic transcript 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 NARF-OT1 "NARF overlapping transcript 1 (non-protein coding)|NARF intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2011-12-19 2013-02-20 2015-02-25 2016-11-11 100506001 ENSG00000266236 OTTHUMG00000178846 uc060mci.1 +HGNC:7643 NARS1 asparaginyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 asparagine tRNA ligase 1, cytoplasmic NARS asparaginyl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 1986-01-01 2019-07-15 2019-07-15 2019-07-15 4677 ENSG00000134440 OTTHUMG00000180125 uc002lgs.4 D84273 NM_004539 CCDS32837 O43776 "6836455|9421509" MGI:1917473 RGD:1307238 108410 6.1.1.22 HGNC:7643 "ENST00000256854.10|NM_004539.4" HGNC:7643 +HGNC:19933 NARS1P1 asparaginyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 "NARSP|NARSP1" "asparaginyl-tRNA synthetase pseudogene|asparaginyl-tRNA synthetase pseudogene 1" 2003-01-13 2019-07-15 2019-07-15 2019-07-15 319127 NG_002505 PGOHUM00000258791 HGNC:19933 +HGNC:50481 NARS1P2 asparaginyl-tRNA synthetase 1 pseudogene 2 pseudogene pseudogene Approved 8q12.3 08q12.3 NARSP2 asparaginyl-tRNA synthetase pseudogene 2 2014-05-06 2019-07-15 2019-07-15 2019-07-15 100287895 ENSG00000253789 OTTHUMG00000164342 NG_022421 PGOHUM00000249690 HGNC:50481 +HGNC:26274 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "FLJ23441|SLM5" asparagine tRNA ligase 2, mitochondrial (putative) DFNB94 "deafness, autosomal recessive 94|asparaginyl-tRNA synthetase 2, mitochondrial (putative)" Aminoacyl tRNA synthetases, Class II 132 2006-01-17 2017-09-15 2021-05-26 79731 ENSG00000137513 OTTHUMG00000166702 uc001ozi.3 BC007800 NM_024678 "CCDS8261|CCDS58164" Q96I59 "15779907|25807530" MGI:2142075 RGD:1305145 612803 448718 6.1.1.22 HGNC:26274 "ENST00000281038.10|NM_024678.6" HGNC:26274 +HGNC:7644 NASP nuclear autoantigenic sperm protein protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLB7527|FLJ31599|FLJ35510|MGC19722|MGC20372|MGC2297|DKFZp547F162|PRO1999" NASP histone chaperone nuclear autoantigenic sperm protein (histone-binding) Tetratricopeptide repeat domain containing 769 1993-11-02 2016-03-09 2016-03-09 4678 ENSG00000132780 OTTHUMG00000007826 uc001coi.3 M97856 NM_002482 "CCDS55597|CCDS524|CCDS525" P49321 1426632 MGI:1355328 RGD:1359609 603185 HGNC:7644 "ENST00000350030.8|NM_002482.4" +HGNC:29910 NASPP1 nuclear autoantigenic sperm protein pseudogene 1 pseudogene pseudogene Approved 8q12.2 08q12.2 2004-01-23 2020-06-09 282694 ENSG00000255397 NG_002431 11674998 PGOHUM00000303221 HGNC:29910 +HGNC:7645 NAT1 N-acetyltransferase 1 protein-coding gene gene with protein product Approved 8p22 08p22 arylamine N-acetyltransferase 1 AAC1 N-acetyltransferase 1 (arylamine N-acetyltransferase) Arylamine N-acetyltransferases 1133 1990-09-10 2016-06-21 2016-06-21 9 ENSG00000171428 OTTHUMG00000097001 uc003wyq.4 BC047666 NM_000662 "CCDS6007|CCDS55205" P18440 7773298 "MGI:102537|MGI:109201|MGI:97279" RGD:70490 Arylamine N-Acetyltransferase|http://www.louisville.edu/medschool/pharmacology/NAT.html 108345 2.3.1.5 HGNC:7645 "ENST00000307719.9|NM_000662.8" +HGNC:7646 NAT2 N-acetyltransferase 2 protein-coding gene gene with protein product Approved 8p22 08p22 arylamine N-acetyltransferase 2 AAC2 N-acetyltransferase 2 (arylamine N-acetyltransferase) Arylamine N-acetyltransferases 1133 1990-09-10 2016-06-21 2016-06-21 10 ENSG00000156006 OTTHUMG00000130826 uc003wyw.2 D90042 NM_000015 CCDS6008 P11245 7773298 "MGI:102537|MGI:109201|MGI:97279" RGD:70492 Arylamine N-Acetyltransferase|http://www.louisville.edu/medschool/pharmacology/NAT.html 612182 241984 2.3.1.5 HGNC:7646 "ENST00000286479.4|NM_000015.3" +HGNC:18069 NAT8 N-acetyltransferase 8 (putative) protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "Hcml1|TSC501|GLA|ATase2" "N-acetyltransferase 8|N-acetyltransferase 8 (GCN5-related, putative)" GCN5 related N-acetyltransferases 1134 2002-01-25 2016-02-12 2016-10-05 9027 ENSG00000144035 OTTHUMG00000129818 uc002sji.2 AB013094 NM_003960 CCDS1926 Q9UHE5 "11397015|9852678|19011241" MGI:1915646 RGD:621609 606716 HGNC:18069 "ENST00000272425.4|NM_003960.4" +HGNC:30235 NAT8B N-acetyltransferase 8B (putative, gene/pseudogene) protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "Hcml2|NAT8BP|CML2" "N-acetyltransferase 8B (gene/pseudogene)|N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene)" 2006-10-24 2016-02-12 2019-01-10 51471 ENSG00000204872 OTTHUMG00000152811 uc061kqq.2 BC069564 NM_016347 Q9UHF3 "11397015|16395595|19011241" MGI:1915646 RGD:621605 608190 HGNC:30235 +HGNC:26742 NAT8L N-acetyltransferase 8 like protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ37478|Hcml3|Shati" N-acetyltransferase 8-like (GCN5-related, putative) GCN5 related N-acetyltransferases 1134 2006-10-24 2016-02-12 2019-04-10 339983 ENSG00000185818 OTTHUMG00000121151 uc003geq.3 AK094797 NM_178557 CCDS3359 Q8N9F0 "11397015|24105954|19807691" MGI:2447776 RGD:1305719 610647 470728 objectId:3144 HGNC:26742 "ENST00000423729.3|NM_178557.4" HGNC:26742 +HGNC:23133 NAT9 N-acetyltransferase 9 (putative) protein-coding gene gene with protein product Approved 17q25.2 17q25.2 DKFZP564C103 "N-acetyltransferase 9|N-acetyltransferase 9 (GCN5-related, putative)" GCN5 related N-acetyltransferases 1134 2005-05-23 2016-02-12 2018-07-11 26151 ENSG00000109065 OTTHUMG00000178870 uc060jpt.1 AK123115 NM_015654 "CCDS82200|CCDS77102|CCDS77101|CCDS82199|CCDS77104|CCDS11706|CCDS77103" Q9BTE0 "14608357|21688147" MGI:1913426 RGD:1307096 2.3.1.- HGNC:23133 "ENST00000357814.8|NM_015654.5" +HGNC:29830 NAT10 N-acetyltransferase 10 protein-coding gene gene with protein product Approved 11p13 11p13 "hALP|FLJ10774|FLJ12179|NET43|KIAA1709|Kre33" "GCN5 related N-acetyltransferases|SSU processome" "1134|1484" 2006-02-20 2016-02-12 2017-12-06 55226 ENSG00000135372 OTTHUMG00000166249 uc001mvk.4 AF489535 NM_024662 "CCDS7889|CCDS44568" Q9H0A0 "14592445|21177859|25653167" MGI:2138939 RGD:1306717 609221 2.3.1.- HGNC:29830 "ENST00000257829.8|NM_024662.3" +HGNC:28918 NAT14 N-acetyltransferase 14 (putative) protein-coding gene gene with protein product Approved 19q13.42 19q13.42 KLP1 K562 cells-derived leucine zipper-like protein 1 "N-acetyltransferase 14|N-acetyltransferase 14 (GCN5-related, putative)" GCN5 related N-acetyltransferases 1134 2006-08-21 2016-02-12 2016-02-12 57106 ENSG00000090971 OTTHUMG00000180854 uc002qle.3 AB055059 NM_020378 CCDS12926 Q8WUY8 10873651 MGI:3039561 RGD:1565991 HGNC:28918 "ENST00000205194.5|NM_020378.4" +HGNC:22030 NAT16 N-acetyltransferase 16 (putative) protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ39237 C7orf52 "chromosome 7 open reading frame 52|N-acetyltransferase 16 (GCN5-related, putative)" GCN5 related N-acetyltransferases 1134 2007-07-10 2011-11-25 2016-02-12 2016-02-12 375607 ENSG00000167011 OTTHUMG00000157110 uc003uxy.2 AK096556 NM_198571 CCDS5713 Q8N8M0 24121108 615783 HGNC:22030 "ENST00000300303.7|NM_198571.3" +HGNC:30770 NATD1 N-acetyltransferase domain containing 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "MGC33894|Gtlf3b" "transcript expressed during hematopoiesis 2|gene trap locus F3b" C17orf103 chromosome 17 open reading frame 103 2009-03-11 2014-05-29 2014-05-29 2015-01-29 256302 ENSG00000274180 OTTHUMG00000130764 BC029527 NM_152914 Q8N6N6 12477932 MGI:1344388 RGD:1307740 HGNC:30770 "ENST00000611551.1|NM_152914.3" +HGNC:15 NATP N-acetyltransferase pseudogene pseudogene pseudogene Approved 8p22 08p22 NATP1 AACP arylamide acetylase pseudogene Arylamine N-acetyltransferases 1133 1992-07-09 2013-08-22 2013-08-22 2014-11-18 11 ENSG00000253937 OTTHUMG00000163710 X17060 NG_004857 "2340091|9284941" PGOHUM00000260428 HGNC:15 +HGNC:15989 NAV1 neuron navigator 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ12560|FLJ14203|KIAA1151|MGC14961|POMFIL3|steerin-1|DKFZp781D0314" "neuron navigator-1|pore membrane and/or filament interacting like protein 3" MicroRNA protein coding host genes 1691 2001-06-29 2016-10-05 89796 ENSG00000134369 OTTHUMG00000035766 uc057oje.1 AF086348 NM_020443 "CCDS53456|CCDS1414" Q8NEY1 "12079279|12062803" MGI:2183683 RGD:1590261 611628 HGNC:15989 +HGNC:15997 NAV2 neuron navigator 2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "FLJ10633|FLJ11030|HELAD1|KIAA1419|POMFIL2|RAINB1|FLJ23707" "pore membrane and/or filament interacting like protein 2|retinoic acid inducible gene in neuroblastoma 1|helicase, APC down-regulated 1" MicroRNA protein coding host genes 1691 2001-06-29 2015-09-01 89797 ENSG00000166833 OTTHUMG00000151837 uc001mpp.4 AB037840 NM_145117 "CCDS44552|CCDS7851|CCDS7850|CCDS53612|CCDS58126" Q8IVL1 "12079279|12062803" MGI:2183691 RGD:619778 607026 3.6.1.1 HGNC:15997 "ENST00000349880.9|NM_145117.5" +HGNC:40744 NAV2-AS1 NAV2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100874015 ENSG00000254894 OTTHUMG00000167398 uc057zun.1 NAV2-AS1 +HGNC:40743 NAV2-AS2 NAV2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100874014 ENSG00000254453 OTTHUMG00000167397 uc057zuj.1 NR_046672 NAV2-AS2 HGNC:40743 +HGNC:40742 NAV2-AS3 NAV2 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100874013 ENSG00000254542 OTTHUMG00000167396 uc057zue.1 NR_174949 NAV2-AS3 +HGNC:40741 NAV2-AS4 NAV2 antisense RNA 4 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 399876 ENSG00000254622 OTTHUMG00000166105 uc057ztw.1 NR_033989 NAV2-AS4 HGNC:40741 +HGNC:40740 NAV2-AS5 NAV2 antisense RNA 5 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 antisense RNA 5 (non-protein coding) Antisense RNAs 1987 2011-05-24 2012-08-15 2014-11-19 100874012 ENSG00000255043 OTTHUMG00000166104 uc031pzi.2 NR_049725 NAV2-AS5 HGNC:40740 +HGNC:55264 NAV2-AS6 NAV2 antisense RNA 6 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 Antisense RNAs 1987 2020-09-29 2020-09-29 100126784 ENSG00000270607 NR_015384 +HGNC:41416 NAV2-IT1 NAV2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 11p15.1 11p15.1 NAV2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874305 ENSG00000255270 OTTHUMG00000166103 uc057ztt.1 NAV2-IT1 +HGNC:15998 NAV3 neuron navigator 3 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "KIAA0938|POMFIL1" "pore membrane and/or filament interacting like protein 1|steerin 3" 2001-06-29 2015-07-22 89795 ENSG00000067798 OTTHUMG00000170001 uc001syo.5 AB023155 NM_001024383 "CCDS66432|CCDS41815" Q8IVL0 "12079279|12062803" MGI:2183703 RGD:1306259 611629 HGNC:15998 "ENST00000397909.7|NM_001024383.2" +HGNC:25576 NAXD NAD(P)HX dehydratase protein-coding gene gene with protein product Approved 13q34 13q34 "LP3298|FLJ10769" ATP-dependent NAD(P)H-hydrate dehydratase CARKD carbohydrate kinase domain containing 2008-08-14 2016-03-09 2016-03-09 2021-05-26 55739 ENSG00000213995 OTTHUMG00000017345 uc001vrc.4 AF151071 NM_018210 "CCDS9513|CCDS55903" Q8IW45 21994945 MGI:1913353 RGD:1562691 615910 4.2.1.93 HGNC:25576 "ENST00000680254.1|NM_001242882.2" HGNC:25576 +HGNC:18453 NAXE NAD(P)HX epimerase protein-coding gene gene with protein product Approved 1q22 01q22 "AIBP|MGC119143|MGC119144|MGC119145|YJEFN1" "apoA-I binding protein|NAD(P)H-hydrate epimerase" APOA1BP apolipoprotein A-I binding protein 2002-08-01 2016-03-09 2016-03-09 2016-10-05 128240 ENSG00000163382 OTTHUMG00000033206 uc001fph.4 AJ315849 NM_144772 CCDS1145 Q8NCW5 "11991719|17533573|21994945" MGI:2180167 RGD:1304699 608862 5.1.99.6 HGNC:18453 "ENST00000368235.8|NM_144772.3" HGNC:18453 +HGNC:15625 NBAS NBAS subunit of NRZ tethering complex protein-coding gene gene with protein product Approved 2p24.3 02p24.3 NAG neuroblastoma amplified sequence NRZ tethering complex 1931 2009-02-16 2019-07-25 2019-07-25 51594 ENSG00000151779 OTTHUMG00000121153 uc002rcc.3 BC051792 NM_015909 CCDS1685 A2RRP1 "9926938|12706883" MGI:1918419 RGD:1585140 608025 394899 HGNC:15625 "ENST00000281513.10|NM_015909.4" HGNC:15625 +HGNC:49075 NBAT1 neuroblastoma associated transcript 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 NBAT-1 neuroblastoma associated transcript-1 CASC14 cancer susceptibility candidate 14 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-08-19 2014-12-10 2014-12-10 2019-05-30 729177 ENSG00000260455 OTTHUMG00000175902 NR_034143 "25517750|25859549|26378045|29771423" 616206 NBAT1 HGNC:49075 +HGNC:50713 NBDY negative regulator of P-body association protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 NoBody non-annotated P-body dissociating polypeptide LINC01420 long intergenic non-protein coding RNA 1420 2014-06-06 2016-12-15 2016-12-15 2022-04-07 550643 ENSG00000204272 OTTHUMG00000021676 BC048131 NM_001348129 CCDS87751 A0A0U1RRE5 "27918561|33059440" MGI:1917373 300992 HGNC:50713 "ENST00000374922.9|NM_001348129.2" +HGNC:7648 NBEA neurobeachin protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "KIAA1544|BCL8B|FLJ10197|LYST2" "WD repeat domain containing|A-kinase anchoring proteins|BEACH domain containing |Armadillo like helical domain containing" "362|396|1230|1492" 1999-12-16 2021-05-26 26960 ENSG00000172915 OTTHUMG00000016724 uc058wka.1 AF467288 NM_015678 "CCDS45026|CCDS55894" Q8NFP9 10501977 MGI:1347075 RGD:1562629 LRG_602|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_602.xml 604889 HGNC:7648 "ENST00000379939.7|NM_001385012.1" HGNC:7648 +HGNC:20681 NBEAL1 neurobeachin like 1 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 MGC164581 "ALS2CR17|ALS2CR16" "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17|amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16|neurobeachin-like 1" "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 2004-11-26 2015-11-13 2016-10-05 65065 ENSG00000144426 OTTHUMG00000154129 uc002uzt.4 AY172970 NM_001114132 CCDS46495 Q6ZS30 15193433 MGI:2444343 RGD:1594799 609816 HGNC:20681 "ENST00000683969.1|NM_001378026.1" +HGNC:31928 NBEAL2 neurobeachin like 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 KIAA0540 neurobeachin-like 2 "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 2005-03-04 2015-11-13 2021-05-26 23218 ENSG00000160796 OTTHUMG00000156497 uc003cqp.4 AB011112 NM_015175 CCDS46817 Q6ZNJ1 "21765412|21765411" MGI:2448554 RGD:1306501 LRG_568|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_568.xml 614169 279603 HGNC:31928 "ENST00000450053.8|NM_015175.3" HGNC:31928 +HGNC:1007 NBEAP1 neurobeachin pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 BCL8A BCL8 B-cell CLL/lymphoma 8 1997-04-16 2011-05-03 2011-05-03 2014-11-19 606 ENSG00000258590 OTTHUMG00000171717 NR_027992 P0C6P0 9159141 601889 PGOHUM00000246623 HGNC:1007 +HGNC:40003 NBEAP2 neurobeachin pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 BCL8D 2011-05-03 2020-04-24 100418881 ENSG00000197927 NG_023729 12160729 HGNC:40003 +HGNC:40004 NBEAP3 neurobeachin pseudogene 3 pseudogene pseudogene Approved 22q11.1 22q11.1 BCL8C 2011-05-03 2011-05-03 100418905 ENSG00000223875 OTTHUMG00000140196 NG_027403 12160729 PGOHUM00000246184 HGNC:40004 +HGNC:40009 NBEAP4 neurobeachin pseudogene 4 pseudogene pseudogene Approved 15q11.2 15q11.2 2011-05-03 2020-04-23 100418897 ENSG00000258883 NG_025284 PGOHUM00000246634 HGNC:40009 +HGNC:40010 NBEAP5 neurobeachin pseudogene 5 pseudogene pseudogene Approved 14q11.2 14q11.2 2011-05-03 2018-05-01 100418903 ENSG00000277710 OTTHUMG00000170506 NG_027242 PGOHUM00000292549 HGNC:40010 +HGNC:40011 NBEAP6 neurobeachin pseudogene 6 pseudogene pseudogene Approved 14q11.2 14q11.2 2011-05-03 2020-04-23 100418904 ENSG00000285990 NG_027320 PGOHUM00000248012 HGNC:40011 +HGNC:7650 NBL1 NBL1, DAN family BMP antagonist protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "D1S1733E|NB|DAN|NO3|DAND1" "neuroblastoma candidate region, suppression of tumorigenicity 1|neuroblastoma suppressor of tumorigenicity 1|differential screening-selected gene aberrant in neuroblastoma" "neuroblastoma, suppression of tumorigenicity 1|neuroblastoma 1, DAN family BMP antagonist" DAN family 1246 1997-11-20 2018-05-04 2018-05-04 4681 ENSG00000158747 OTTHUMG00000002700 uc031plk.1 NM_005380 "CCDS41278|CCDS72720|CCDS196" P41271 "7633401|24810382" MGI:104591 RGD:3151 600613 HGNC:7650 "ENST00000375136.8|NM_005380.8" +HGNC:7652 NBN nibrin protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "ATV|AT-V2|AT-V1" "NBS|NBS1" Nijmegen breakage syndrome 1 (nibrin) "BRCA1 C complex|MRN complex" "1336|1344" 1997-11-28 2005-06-02 2005-06-02 2021-04-13 4683 ENSG00000104320 OTTHUMG00000153546 uc003yej.2 AF058696 NM_001024688 "CCDS6249|CCDS43753" O60934 "9590181|9590180" MGI:1351625 RGD:621420 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NBN|LRG_158|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_158.xml" NBN 602667 123688 HGNC:7652 "ENST00000265433.8|NM_002485.5" HGNC:7652 +HGNC:26088 NBPF1 NBPF member 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "FLJ20719|KIAA1693" neuroblastoma breakpoint family, member 1 NBPF members 662 2005-11-23 2017-03-01 2017-11-27 55672 ENSG00000219481 OTTHUMG00000002487 uc001ayw.5 AB051480 NM_017940 Q3BBV0 "11214970|16079250" 610501 HGNC:26088 +HGNC:31987 NBPF2P NBPF member 2, pseudogene pseudogene pseudogene Approved 1p36.12 01p36.12 neuroblastoma breakpoint family, member 2, pseudogene NBPF members 662 2005-11-23 2017-03-01 2017-03-01 343381 ENSG00000227001 OTTHUMG00000002941 NG_005533 16079250 PGOHUM00000243928 HGNC:31987 +HGNC:25076 NBPF3 NBPF member 3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 AE2 neuroblastoma breakpoint family, member 3 NBPF members 662 2005-11-23 2017-03-01 2017-03-01 84224 ENSG00000142794 OTTHUMG00000002944 uc001ber.5 BC024011 NM_032264 "CCDS57976|CCDS57977|CCDS81275|CCDS216" Q9H094 "11230166|16079250" 612992 PGOHUM00000295585 HGNC:25076 "ENST00000318249.10|NM_032264.6" +HGNC:26550 NBPF4 NBPF member 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 FLJ32833 neuroblastoma breakpoint family, member 4 NBPF members 662 2005-11-23 2017-03-01 2017-03-01 148545 ENSG00000196427 OTTHUMG00000011318 uc009wen.3 AK057395 NM_152488 CCDS44182 Q96M43 16079250 613994 HGNC:26550 "ENST00000415641.8|NM_001143989.3" +HGNC:24491 NBPF5P NBPF member 5, pseudogene pseudogene pseudogene Approved 1p13.3 01p13.3 NBPF5 neuroblastoma breakpoint family, member 5 NBPF members 662 2005-11-23 2013-01-16 2017-03-01 2020-04-20 100507044 ENSG00000243967 OTTHUMG00000011317 BC043522 NG_028895 Q86XG9 16079250 613995 PGOHUM00000251119 HGNC:24491 +HGNC:31988 NBPF6 NBPF member 6 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 neuroblastoma breakpoint family, member 6 NBPF members 662 2005-11-23 2017-03-01 2018-11-16 653149 ENSG00000186086 OTTHUMG00000039830 uc009wep.3 NM_001143988 CCDS44184 Q5VWK0 16079250 613996 HGNC:31988 "ENST00000495380.7|NM_001143988.2" +HGNC:31989 NBPF7P NBPF member 7, pseudogene pseudogene pseudogene Approved 1p12 01p12 NBPF7 "neuroblastoma breakpoint family, member 7|NBPF member 7" NBPF members 662 2005-11-23 2021-03-08 2021-03-08 2021-03-08 343505 ENSG00000215864 OTTHUMG00000012178 NR_171566 P0C2Y1 16079250 613997 HGNC:31989 +HGNC:31990 NBPF8 NBPF member 8 other unknown Approved 1p11.2 01p11.2 NBPF8P neuroblastoma breakpoint family, member 8, pseudogene NBPF members 662 2005-11-23 2013-04-24 2017-03-01 2020-04-20 728841 ENSG00000270231 OTTHUMG00000185013 AY894572 NM_001037501 Q3BBV2 16079250 613998 HGNC:31990 +HGNC:31991 NBPF9 NBPF member 9 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 AE01 neuroblastoma breakpoint family, member 9 NBPF members 662 2005-11-23 2017-03-01 2017-03-01 400818 ENSG00000269713 OTTHUMG00000013845 uc057kjy.1 NM_001037675 "CCDS72896|CCDS72895" P0DPF3 16079250 613999 HGNC:31991 +HGNC:31992 NBPF10 NBPF member 10 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 AG1 neuroblastoma breakpoint family, member 10 NBPF members 662 2005-11-23 2017-03-01 2017-03-01 100132406 ENSG00000271425 OTTHUMG00000013757 uc057kcv.1 BC021111 NM_001039703 CCDS76206 Q6P3W6 16079250 614000 HGNC:31992 +HGNC:31993 NBPF11 NBPF member 11 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 NBPF24 neuroblastoma breakpoint family, member 24 NBPF members 662 2005-11-23 2017-03-01 2017-03-01 200030 ENSG00000263956 OTTHUMG00000013880 uc057kga.1 NM_183372 CCDS41381 Q86T75 16079250 614001 HGNC:31993 "ENST00000682118.1|NM_001385469.3" +HGNC:24297 NBPF12 NBPF member 12 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 COAS1 KIAA1245 "KIAA1245|neuroblastoma breakpoint family, member 12" NBPF members 662 2005-07-14 2011-06-28 2017-03-01 2018-11-16 149013 ENSG00000268043 OTTHUMG00000043708 uc057kdn.1 BG154169 NM_001278141 CCDS72881 Q5TAG4 11948409 608607 HGNC:24297 +HGNC:31995 NBPF13P NBPF member 13, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 neuroblastoma breakpoint family, member 13, pseudogene NBPF members 662 2005-11-23 2017-03-01 2020-05-12 644861 ENSG00000283342 OTTHUMG00000041474 NR_103466 16079250 PGOHUM00000251082 HGNC:31995 +HGNC:25232 NBPF14 NBPF member 14 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 DJ328E19.C1.1 neuroblastoma breakpoint family, member 14 NBPF members 662 2005-11-23 2017-03-01 2017-03-01 25832 ENSG00000270629 OTTHUMG00000188198 uc057kib.1 AK092351 NM_015383 Q5TI25 "8619474|9110174|16079250" 614003 HGNC:25232 +HGNC:28791 NBPF15 NBPF member 15 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 MGC8902 NBPF16 neuroblastoma breakpoint family, member 16 NBPF members 662 2005-11-23 2017-03-01 2017-03-01 284565 ENSG00000266338 OTTHUMG00000013634 uc010pay.3 BC023087 NM_173638 CCDS72852 Q8N660 16079250 610414 HGNC:28791 "ENST00000581897.7|NM_001385408.1" +HGNC:31997 NBPF17P NBPF member 17, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 "NBPF23P|NBPF23" "neuroblastoma breakpoint family, member 23, pseudogene|neuroblastoma breakpoint family, member 23" NBPF members 662 2005-11-23 2017-03-01 2017-03-01 401967 ENSG00000179571 OTTHUMG00000041567 NR_103751 16079250 612970 PGOHUM00000244259 HGNC:31997 +HGNC:31998 NBPF18P NBPF member 18, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 neuroblastoma breakpoint family, member 18, pseudogene NBPF members 662 2005-11-23 2017-03-01 2018-04-30 441908 ENSG00000240667 OTTHUMG00000013051 NR_103561 16079250 HGNC:31998 +HGNC:31999 NBPF19 NBPF member 19 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 neuroblastoma breakpoint family, member 19 NBPF members 662 2005-11-23 2017-03-01 2020-04-20 101060226 ENSG00000271383 OTTHUMG00000013900 uc031uwi.2 NM_001351365 CCDS86016 A0A087WUL8 16079250 614006 HGNC:31999 "ENST00000651566.2|NM_001351365.2" +HGNC:32000 NBPF20 NBPF member 20 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 neuroblastoma breakpoint family, member 20 NBPF members 662 2005-11-23 2017-03-01 2020-04-20 100288142 ENSG00000162825 OTTHUMG00000042439 uc031usp.2 NM_001278267 CCDS72856 P0DPF2 16079250 614007 HGNC:32000 +HGNC:32001 NBPF21P NBPF member 21, pseudogene pseudogene pseudogene Approved 3p22.2 03p22.2 neuroblastoma breakpoint family, member 21, pseudogene NBPF members 662 2005-11-23 2017-03-01 2017-03-01 205655 ENSG00000231382 OTTHUMG00000155806 XM_497917 16079250 PGOHUM00000250233 HGNC:32001 +HGNC:28731 NBPF22P NBPF member 22, pseudogene pseudogene pseudogene Approved 5q14.3 05q14.3 MGC48637 neuroblastoma breakpoint family, member 22, pseudogene NBPF members 662 2007-07-24 2017-03-01 2017-03-01 285622 ENSG00000205449 OTTHUMG00000162585 BC050328 XM_208333 16079250 PGOHUM00000251384 HGNC:28731 +HGNC:45046 NBPF25P NBPF member 25, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 neuroblastoma breakpoint family, member 25, pseudogene NBPF members 662 2014-01-16 2017-03-01 2017-03-01 101929780 ENSG00000272150 OTTHUMG00000188662 NR_104217 PGOHUM00000295869 HGNC:45046 +HGNC:49571 NBPF26 NBPF member 26 protein-coding gene gene with protein product Approved 1p11.2 01p11.2 neuroblastoma breakpoint family, member 26 NBPF members 662 2014-01-16 2017-03-01 2017-03-01 101060684 ENSG00000273136 OTTHUMG00000189374 NM_001351372 B4DH59 24885025 HGNC:49571 +HGNC:6746 NBR1 NBR1 autophagy cargo receptor protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "CA125|KIAA0049|1A1-3B" M17S2 "membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)|neighbor of BRCA1 gene 1" Zinc fingers ZZ-type 91 1994-08-29 2005-02-16 2019-01-21 2019-08-20 4077 ENSG00000188554 OTTHUMG00000180878 uc010czd.4 X76952 NM_005899 "CCDS77037|CCDS45694|CCDS77038" Q14596 "8069304|26112016" MGI:108498 RGD:69195 166945 HGNC:6746 "ENST00000590996.6|NM_005899.5" +HGNC:20691 NBR2 neighbor of BRCA1 lncRNA 2 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 NCRNA00192 non-protein coding RNA 192 "neighbor of BRCA1 gene 2|neighbor of BRCA1 gene 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2003-03-20 2018-05-16 2018-05-16 10230 ENSG00000198496 OTTHUMG00000140395 U88573 NR_003108 "9215675|15777733|26999735" 618708 NBR2 HGNC:20691 +HGNC:7655 NCALD neurocalcin delta protein-coding gene gene with protein product Approved 8q22.3 08q22.3 EF-hand domain containing 863 2000-06-29 2015-09-01 83988 ENSG00000104490 OTTHUMG00000164876 uc003ykl.4 AF052142 NM_001040624 CCDS6292 P61601 11267673 MGI:1196326 RGD:1560287 606722 HGNC:7655 "ENST00000220931.11|NM_032041.3" +HGNC:7656 NCAM1 neural cell adhesion molecule 1 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "NCAM|CD56" "CD molecules|Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "471|555|593|1410" 2001-06-22 2014-11-19 4684 ENSG00000149294 OTTHUMG00000167196 uc058hjx.1 NM_000615 "CCDS73387|CCDS73384|CCDS73385|CCDS73386|CCDS73388" P13591 MGI:97281 RGD:67378 116930 objectId:2769 CD56 HGNC:7656 "ENST00000316851.12|NM_181351.5" +HGNC:48675 NCAM1-AS1 NCAM1 antisense RNA1 non-coding RNA RNA, long non-coding Approved 11q23.2 11q23.2 Antisense RNAs 1987 2013-06-06 2013-06-06 100288346 ENSG00000227487 OTTHUMG00000167663 NR_034101 NCAM1-AS1 HGNC:48675 +HGNC:7657 NCAM2 neural cell adhesion molecule 2 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "NCAM21|MGC51008" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1997-04-25 2016-10-05 4685 ENSG00000154654 OTTHUMG00000078121 uc002yld.3 NM_004540 CCDS42910 O15394 9226371 MGI:97282 RGD:1303131 602040 HGNC:7657 "ENST00000400546.6|NM_004540.5" +HGNC:2465 NCAN neurocan protein-coding gene gene with protein product Approved 19p12 19p12 neurocan proteoglycan CSPG3 chondroitin sulfate proteoglycan 3 "Receptor ligands|Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing" "542|574|590|1179|1298" 1997-12-23 2007-02-15 2007-02-15 2014-11-19 1463 ENSG00000130287 OTTHUMG00000182218 uc002nlz.4 AF026547 NM_004386 CCDS12397 O14594 "1326557|21353194" MGI:104694 RGD:619941 600826 ligandId:6616 HGNC:2465 "ENST00000252575.11|NM_004386.3" +HGNC:24305 NCAPD2 non-SMC condensin I complex subunit D2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CNAP1|hCAP-D2|CAP-D2|KIAA0159" chromosome condensation related SMC associated protein 1 non-SMC condensin I complex, subunit D2 "Condensin I subunits|Armadillo like helical domain containing" "1452|1492" 2006-09-04 2015-11-12 2015-11-12 9918 ENSG00000010292 OTTHUMG00000168513 uc001qoo.3 D63880 NM_014865 CCDS8548 Q15021 "8590280|10958694" MGI:1915548 RGD:1562596 615638 HGNC:24305 "ENST00000315579.10|NM_014865.4" HGNC:24305 +HGNC:43831 NCAPD2P1 non-SMC condensin I complex subunit D2 pseudogene 1 pseudogene pseudogene Approved 7p14.3 07p14.3 non-SMC condensin I complex, subunit D2 pseudogene 1 2012-03-23 2015-11-12 2015-11-12 100421175 ENSG00000230356 OTTHUMG00000153020 NG_026451 PGOHUM00000232646 HGNC:43831 +HGNC:28952 NCAPD3 non-SMC condensin II complex subunit D3 protein-coding gene gene with protein product Approved 11q25 11q25 "hCAP-D3|CAP-D3|hHCP-6|KIAA0056|FLJ42888|hcp-6" non-SMC condensin II complex, subunit D3 "Condensin II subunits|Armadillo like helical domain containing" "1453|1492" 2006-09-04 2015-11-12 2015-11-12 23310 ENSG00000151503 OTTHUMG00000167172 uc001qhd.2 AK124878 NM_015261 CCDS31723 P42695 "7584044|8619474|14532007" MGI:2142989 RGD:1562176 609276 HGNC:28952 "ENST00000534548.7|NM_015261.3" HGNC:28952 +HGNC:24304 NCAPG non-SMC condensin I complex subunit G protein-coding gene gene with protein product Approved 4p15.31 04p15.31 "FLJ12450|hCAP-G|CAP-G|YCG1" chromosome condensation protein G non-SMC condensin I complex, subunit G "Condensin I subunits|Armadillo like helical domain containing" "1452|1492" 2006-09-04 2015-11-12 2016-10-05 64151 ENSG00000109805 OTTHUMG00000128539 uc003gpp.5 AF331796 NM_022346 CCDS3424 Q9BPX3 "10910072|11136719" MGI:1930197 RGD:1562646 606280 HGNC:24304 "ENST00000251496.7|NM_022346.5" +HGNC:21904 NCAPG2 non-SMC condensin II complex subunit G2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "FLJ20311|MTB|CAP-G2|hCAP-G2" LUZP5 "leucine zipper protein 5|non-SMC condensin II complex, subunit G2" "Condensin II subunits|Armadillo like helical domain containing" "1453|1492" 2005-04-20 2006-09-04 2015-11-12 2015-11-12 54892 ENSG00000146918 OTTHUMG00000151438 uc003wnv.3 BC043404 NM_017760 "CCDS64816|CCDS43686" Q86XI2 14532007 MGI:1923294 RGD:1308406 608532 HGNC:21904 "ENST00000356309.8|NM_017760.7" HGNC:21904 +HGNC:51904 NCAPGP1 non-SMC condensin I complex subunit G pseudogene 1 pseudogene pseudogene Approved 8q24.12 08q24.12 non-SMC condensin I complex, subunit G pseudogene 1 2015-09-21 2015-11-12 2015-11-12 100421096 ENSG00000250290 OTTHUMG00000160497 NG_026071 PGOHUM00000303368 HGNC:51904 +HGNC:51905 NCAPGP2 non-SMC condensin I complex subunit G pseudogene 2 pseudogene pseudogene Approved 15q13.2 15q13.2 non-SMC condensin I complex, subunit G pseudogene 2 2015-09-21 2015-11-12 2015-11-12 100421148 ENSG00000259749 OTTHUMG00000172195 NG_025369 PGOHUM00000293162 HGNC:51905 +HGNC:1112 NCAPH non-SMC condensin I complex subunit H protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "CAP-H|hCAP-H" BRRN1 "barren (Drosophila) homolog|barren homolog (Drosophila)|barren homolog 1 (Drosophila)|non-SMC condensin I complex, subunit H" "Kleisins|Condensin I subunits" "1451|1452" 1998-02-11 2006-09-04 2015-11-12 2020-09-17 23397 ENSG00000121152 OTTHUMG00000130451 uc002svz.3 BC024211 NM_015341 "CCDS2021|CCDS62960" Q15003 9417923 MGI:2444777 RGD:1596799 602332 HGNC:1112 "ENST00000240423.9|NM_015341.5" +HGNC:25071 NCAPH2 non-SMC condensin II complex subunit H2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "384D8-2|hCAP-H2|CAP-H2" "kleisin beta|CAP-H2 subunit of the condensin II complex" non-SMC condensin II complex, subunit H2 Condensin II subunits 1453 2006-09-04 2015-11-12 2015-11-12 29781 ENSG00000025770 OTTHUMG00000150205 uc003blr.5 BC001937 NM_152299 "CCDS43038|CCDS54546|CCDS14094" Q6IBW4 10493829 MGI:1289164 RGD:1565937 611230 HGNC:25071 "ENST00000420993.7|NM_152299.4" +HGNC:7658 NCBP1 nuclear cap binding protein subunit 1 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "CBP80|Sto1" NCBP "nuclear cap binding protein subunit 1, 80kD|nuclear cap binding protein subunit 1, 80kDa" MIF4G domain containing proteins 2128 1995-01-05 2015-11-09 2016-10-05 4686 ENSG00000136937 OTTHUMG00000020332 uc004axq.4 BC001450 NM_002486 CCDS6728 Q09161 "7937105|8812508" MGI:1891840 RGD:1308973 600469 HGNC:7658 "ENST00000375147.8|NM_002486.5" HGNC:7658 +HGNC:7659 NCBP2 nuclear cap binding protein subunit 2 protein-coding gene gene with protein product Approved 3q29 03q29 "NIP1|CBP20|Cbc2" "nuclear cap binding protein subunit 2, 20kD|nuclear cap binding protein subunit 2, 20kDa" RNA binding motif containing 725 2000-01-17 2015-11-09 2015-11-09 22916 ENSG00000114503 OTTHUMG00000155520 uc003fxd.2 D59253 NM_007362 "CCDS3323|CCDS46986|CCDS77878" P52298 "7478990|7651522|8682299" MGI:1915342 RGD:1596188 605133 HGNC:7659 "ENST00000321256.10|NM_007362.5" +HGNC:40392 NCBP2-AS1 NCBP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 NCBP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874001 ENSG00000225578 OTTHUMG00000155523 uc062sda.1 NR_046630 NCBP2-AS1 HGNC:40392 +HGNC:25121 NCBP2AS2 NCBP2 antisense 2 (head to head) protein-coding gene gene with protein product Approved 3q29 03q29 "HIAR|KRASIM" "hypoxia-induced angiogenesis regulator|KRAS-interacting microprotein" NCBP2-AS2 NCBP2 antisense RNA 2 (head to head) 2013-05-17 2019-03-07 2019-03-07 2019-07-11 152217 ENSG00000270170 OTTHUMG00000184107 BC007882 NM_138487 CCDS87189 Q69YL0 "30723174|31240521" HGNC:25121 "ENST00000602845.2|NM_001355243.2" +HGNC:31795 NCBP2L nuclear cap binding protein subunit 2 like protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 RNA binding motif containing 725 2004-08-17 2017-05-12 2020-04-02 392517 ENSG00000170935 OTTHUMG00000022169 uc065apo.1 NM_001348372 CCDS87770 A6PVI3 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NCBP2L HGNC:31795 "ENST00000509000.3|NM_001348372.2" +HGNC:24612 NCBP3 nuclear cap binding subunit 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "HSA277841|ELG" ELG protein C17orf85 chromosome 17 open reading frame 85 2006-06-23 2015-09-24 2015-09-24 2017-07-11 55421 ENSG00000074356 OTTHUMG00000177672 NM_018553 CCDS45578 Q53F19 "11412301|26382858" MGI:1914124 RGD:1308139 616624 HGNC:24612 "ENST00000389005.6|NM_001114118.3" +HGNC:33739 NCCRP1 NCCRP1, F-box associated domain containing protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "LOC342897|NCCRP-1|FBXO50" non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 2008-10-22 2019-07-04 2019-07-04 342897 ENSG00000188505 OTTHUMG00000182802 uc002okq.2 "AK123941|BC067874" NM_001001414 CCDS12529 Q6ZVX7 22087255 MGI:2685009 RGD:1305932 615901 HGNC:33739 "ENST00000339852.5|NM_001001414.2" +HGNC:17597 NCDN neurochondrin protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "NCDN-1|NCDN-2" norbin Armadillo like helical domain containing 1492 2004-11-11 2020-01-16 23154 ENSG00000020129 OTTHUMG00000059204 uc001bza.3 AB011179 NM_014284 "CCDS30672|CCDS392" Q9UBB6 "15007648|26048293" MGI:1347351 RGD:621734 608458 HGNC:17597 "ENST00000373243.7|NM_014284.3" HGNC:17597 +HGNC:29260 NCEH1 neutral cholesterol ester hydrolase 1 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 "KIAA1363|NCEH" "alkylacetylglycerol acetylhydrolase|acetylalkylglycerol acetylhydrolase" AADACL1 arylacetamide deacetylase-like 1 Arylacetamide deacetylase family 465 2005-02-25 2009-07-23 2009-07-23 2019-11-20 57552 ENSG00000144959 OTTHUMG00000156872 uc003fig.4 AB037784 NM_020792 CCDS54681 Q6PIU2 "10718198|17052608|22771767" MGI:2443191 RGD:1311104 613234 S09.992 3.1.1.71 HGNC:29260 "ENST00000475381.7|NM_020792.6" +HGNC:7660 NCF1 neutrophil cytosolic factor 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "p47phox|NOXO2|NCF1A|SH3PXD1A" "NADPH oxidase organizer 2|chronic granulomatous disease, autosomal 1" neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1) 1989-05-25 2008-07-31 2021-04-13 653361 ENSG00000158517 OTTHUMG00000149965 uc003ubb.5 M25665 NM_000265 CCDS34657 P14598 MGI:97283 RGD:61307 "NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox|http://structure.bmc.lu.se/idbase/NCF1base/|LRG_87|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_87.xml" 608512 123695 HGNC:7660 "ENST00000289473.11|NM_000265.7" HGNC:7660 +HGNC:32522 NCF1B neutrophil cytosolic factor 1B pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 SH3PXD1B neutrophil cytosolic factor 1B 2006-02-13 2006-09-19 2014-03-20 654816 ENSG00000182487 OTTHUMG00000156804 NR_003186 A6NI72 MGI:97283 PGOHUM00000258289 HGNC:32522 +HGNC:32523 NCF1C neutrophil cytosolic factor 1C pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 SH3PXD1C neutrophil cytosolic factor 1C 2006-02-13 2006-09-19 2008-10-31 654817 ENSG00000165178 OTTHUMG00000149964 NR_003187 A8MVU1 MGI:97283 HGNC:32523 +HGNC:7661 NCF2 neutrophil cytosolic factor 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "p67phox|NOXA2" "NADPH oxidase activator 2|chronic granulomatous disease, autosomal 2" neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) Tetratricopeptide repeat domain containing 769 1989-05-25 2008-07-31 2021-04-13 4688 ENSG00000116701 OTTHUMG00000035329 uc001gqk.5 BC001606 NM_000433 "CCDS53446|CCDS53447|CCDS1356" P19878 MGI:97284 RGD:1309424 "NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox|http://structure.bmc.lu.se/idbase/NCF2base/|LRG_88|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_88.xml" 608515 123701 HGNC:7661 "ENST00000367535.8|NM_000433.4" HGNC:7661 +HGNC:7662 NCF4 neutrophil cytosolic factor 4 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "p40phox|SH3PXD4" neutrophil NADPH oxidase factor 4 "neutrophil cytosolic factor 4 (40kD)|neutrophil cytosolic factor 4, 40kDa" 1996-06-19 2015-11-09 2021-04-13 4689 ENSG00000100365 OTTHUMG00000150548 uc003apy.5 X77094 NM_000631 "CCDS13934|CCDS13935" Q15080 8839867 MGI:109186 RGD:1593157 LRG_159|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_159.xml 601488 204415 HGNC:7662 "ENST00000248899.11|NM_000631.5" HGNC:7662 +HGNC:40393 NCF4-AS1 NCF4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 CTA-833B7.2 Antisense RNAs 1987 2016-12-09 2016-12-09 107985578 ENSG00000183822 OTTHUMG00000150550 NR_147197 27836685 HGNC:40393 +HGNC:7664 NCK1 NCK adaptor protein 1 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 NCKalpha NCK SH2 domain containing 741 1998-11-04 2016-10-05 4690 ENSG00000158092 OTTHUMG00000159781 uc062odz.1 X17576 NM_006153 "CCDS3092|CCDS54644" P16333 "7806213|9737977" MGI:109601 RGD:1310688 600508 HGNC:7664 "ENST00000481752.6|NM_001291999.2" +HGNC:49645 NCK1-DT NCK1 divergent transcript non-coding RNA RNA, long non-coding Approved 3q22.3 03q22.3 SLC35G2-AS1 SLC35G2 antisense RNA 1 NCK1-AS1 NCK1 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-01-28 2018-03-23 2018-03-23 2018-03-23 101927597 ENSG00000239213 OTTHUMG00000159786 NR_110175 29416014 NCK1-AS1 HGNC:49645 +HGNC:7665 NCK2 NCK adaptor protein 2 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 NCKbeta SH2 domain containing 741 1998-10-29 2016-10-05 8440 ENSG00000071051 OTTHUMG00000153116 uc002tdg.4 AF043119 NM_003581 CCDS33266 O43639 "9737977|16752908" MGI:1306821 RGD:1305965 604930 HGNC:7665 "ENST00000233154.9|NM_003581.5" +HGNC:7666 NCKAP1 NCK associated protein 1 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "Nap1|HEM2|NAP125" SCAR/WAVE complex 1793 1999-07-19 2016-01-15 2016-10-05 10787 ENSG00000061676 OTTHUMG00000132623 uc002upc.5 AB014509 NM_205842 "CCDS2287|CCDS2288" Q9Y2A7 "10673335|12181570|9344857" MGI:1355333 RGD:61939 604891 470730 HGNC:7666 "ENST00000361354.9|NM_013436.5" +HGNC:4862 NCKAP1L NCK associated protein 1 like protein-coding gene gene with protein product Approved 12q13.13-q13.2 12q13.13-q13.2 HEM1 hematopoietic protein 1 1993-01-27 2005-10-11 2016-01-15 2018-02-13 3071 ENSG00000123338 OTTHUMG00000169843 uc001sgc.5 AI924363 NM_005337 "CCDS53799|CCDS31813" P55160 1932118 MGI:1926063 RGD:1312032 141180 HGNC:4862 "ENST00000293373.11|NM_005337.5" HGNC:4862 +HGNC:55028 NCKAP1P1 NCKAP1 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-28 2020-05-28 101060152 ENSG00000237752 NG_033245 +HGNC:29847 NCKAP5 NCK associated protein 5 protein-coding gene gene with protein product Approved 2q21.2 02q21.2 "NAP5|ERIH1|ERIH2" peripheral clock protein 2009-08-14 2016-01-15 2016-01-15 344148 ENSG00000176771 OTTHUMG00000153573 uc002ttp.3 AB005217 NM_207481 "CCDS46417|CCDS46418" O14513 9344857 MGI:2686394 RGD:1564507 608789 HGNC:29847 "ENST00000409261.6|NM_207363.3" +HGNC:41246 NCKAP5-AS1 NCKAP5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.2 02q21.2 Antisense RNAs 1987 2018-09-27 2018-09-27 101928185 ENSG00000233729 OTTHUMG00000153667 NR_135572 HGNC:41246 +HGNC:54065 NCKAP5-AS2 NCKAP5 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2q21.2 02q21.2 Antisense RNAs 1987 2018-09-27 2018-09-27 101928161 ENSG00000226953 NR_110294 HGNC:54065 +HGNC:41497 NCKAP5-IT1 NCKAP5 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q21.2 02q21.2 NCKAP5 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 100874346 ENSG00000232474 OTTHUMG00000153666 uc061nyc.1 NCKAP5-IT1 +HGNC:29321 NCKAP5L NCK associated protein 5 like protein-coding gene gene with protein product Approved 12q13.12 12q13.12 KIAA1602 KIAA1602 2006-01-20 2009-08-14 2016-01-15 2018-11-16 57701 ENSG00000167566 OTTHUMG00000156969 uc009zlk.2 AB046822 NM_001037806 CCDS41781 Q9HCH0 MGI:3609653 RGD:1561571 615104 HGNC:29321 "ENST00000335999.7|NM_001037806.4" +HGNC:15486 NCKIPSD NCK interacting protein with SH3 domain protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "AF3P21|SPIN90|ORF1|WISH|WASLBP|DIP1" "dia interacting protein|diaphanous protein interacting protein|SH3 protein interacting with Nck, 90 kDa" 2004-02-26 2016-10-05 51517 ENSG00000213672 OTTHUMG00000133542 uc003cun.5 AF178432 NM_016453 "CCDS2776|CCDS46827" Q9NZQ3 "10648423|10619843" MGI:1931834 RGD:1311323 606671 HGNC:15486 "ENST00000294129.7|NM_016453.4" +HGNC:7667 NCL nucleolin protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "C23|Nsr1" "RNA binding motif containing|DNA helicases|SSU processome|Small nucleolar RNA protein coding host genes" "725|1167|1484|1835" 1991-01-15 2017-05-26 4691 ENSG00000115053 OTTHUMG00000153866 uc002vru.4 NM_005381 CCDS33397 P19338 "2394707|3409881" MGI:97286 RGD:3153 164035 HGNC:7667 "ENST00000322723.9|NM_005381.3" +HGNC:26923 NCLN nicalin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "NICALIN|NET59" nicastrin-like protein nicalin homolog (zebrafish) M28 metallopeptidases 1444 2004-11-26 2010-08-13 2020-04-01 56926 ENSG00000125912 OTTHUMG00000180687 uc002lxi.4 BC025926 NM_020170 CCDS32869 Q969V3 "11230166|17261586" MGI:1926081 RGD:1309355 609156 M28.978 HGNC:26923 "ENST00000246117.9|NM_020170.4" +HGNC:35472 NCLP1 nucleolin pseudogene 1 pseudogene pseudogene Approved 9q34.3 09q34.3 2009-03-03 2012-10-16 100302751 ENSG00000213212 OTTHUMG00000020939 NG_012793 PGOHUM00000263228 HGNC:35472 +HGNC:35473 NCLP2 nucleolin pseudogene 2 pseudogene pseudogene Approved Xq26.3 Xq26.3 bA85L21.1 2009-03-03 2014-11-19 100379142 ENSG00000234228 OTTHUMG00000022467 NG_016573 PGOHUM00000241553 HGNC:35473 +HGNC:29332 NCMAP non-compact myelin associated protein protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FLJ42528|MP11" myelin protein of 11 kDa C1orf130 chromosome 1 open reading frame 130 2005-06-30 2012-07-31 2015-11-18 2015-11-18 400746 ENSG00000184454 OTTHUMG00000003317 uc001bjk.3 AK124519 NM_001010980 CCDS30632 Q5T1S8 18650334 MGI:2444888 RGD:1587554 HGNC:29332 "ENST00000374392.3|NM_001010980.5" +HGNC:54327 NCMAP-DT NCMAP divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Divergent transcripts 1990 2019-05-09 2019-05-09 100506985 ENSG00000264443 NR_109781 HGNC:54327 +HGNC:7668 NCOA1 nuclear receptor coactivator 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "SRC1|F-SRC-1|NCoA-1|KAT13A|RIP160|bHLHe74" "Basic helix-loop-helix proteins|Lysine acetyltransferases|PAS domain containing" "420|486|2127" 1999-12-17 2016-10-05 8648 ENSG00000084676 OTTHUMG00000125523 uc002rfk.4 U40396 NM_147223 "CCDS42660|CCDS1713|CCDS1712" Q15788 "7481822|9575154" MGI:1276523 RGD:1309046 NCOA1 602691 objectId:2693 HGNC:7668 "ENST00000348332.8|NM_003743.5" +HGNC:7669 NCOA2 nuclear receptor coactivator 2 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "TIF2|GRIP1|NCoA-2|KAT13C|bHLHe75" glucocorticoid receptor interacting protein 1 "Basic helix-loop-helix proteins|Lysine acetyltransferases|PAS domain containing" "420|486|2127" 1999-12-17 2019-07-10 10499 ENSG00000140396 OTTHUMG00000164671 uc003xyn.2 X97674 NM_001321703 CCDS47872 Q15596 "9111344|8670870" MGI:1276533 RGD:620108 NCOA2 601993 objectId:2694 HGNC:7669 "ENST00000452400.7|NM_006540.4" +HGNC:7670 NCOA3 nuclear receptor coactivator 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "RAC3|AIB1|ACTR|p/CIP|TRAM-1|CAGH16|TNRC16|KAT13B|bHLHe42|SRC-3|SRC3" "receptor-associated coactivator 3|thyroid hormone receptor activator molecule 1" "Basic helix-loop-helix proteins|Lysine acetyltransferases|PAS domain containing" "420|486|2127" 1999-12-17 2016-10-05 8202 ENSG00000124151 OTTHUMG00000033061 uc002xtk.4 AF012108 NM_006534 "CCDS13407|CCDS13406|CCDS54472" Q9Y6Q9 "9252329|9346901" MGI:1276535 RGD:620109 601937 objectId:2695 HGNC:7670 "ENST00000371998.8|NM_181659.3" +HGNC:7671 NCOA4 nuclear receptor coactivator 4 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "ARA70|RFG|ELE1|PTC3|DKFZp762E1112" RET-activating gene ELE1 1999-12-17 2016-10-05 8031 ENSG00000266412 OTTHUMG00000188314 uc009xon.4 L49399 NM_005437 "CCDS73094|CCDS73092|CCDS73093" Q13772 "8290261|8643607|24695223" MGI:1350932 RGD:1563014 NCOA4 601984 311587 HGNC:7671 "ENST00000581486.6|NM_001145263.2" +HGNC:20022 NCOA4P1 nuclear receptor coactivator 4 pseudogene 1 pseudogene pseudogene Approved 14q23.3 14q23.3 NCOA4P nuclear receptor coactivator 4 pseudogene 2003-01-13 2010-02-26 2010-02-26 2020-04-07 326605 ENSG00000258629 OTTHUMG00000171174 NG_002594 PGOHUM00000247833 HGNC:20022 +HGNC:52403 NCOA4P2 nuclear receptor coactivator 4 pseudogene 2 pseudogene pseudogene Approved 4q22.1 04q22.1 2016-10-25 2016-10-25 728333 ENSG00000249934 OTTHUMG00000160997 NG_009764 PGOHUM00000299921 HGNC:52403 +HGNC:52404 NCOA4P3 nuclear receptor coactivator 4 pseudogene 3 pseudogene pseudogene Approved 4q31.21 04q31.21 2016-10-25 2016-10-25 729497 ENSG00000249245 OTTHUMG00000161368 NG_009765 PGOHUM00000300025 HGNC:52404 +HGNC:52405 NCOA4P4 nuclear receptor coactivator 4 pseudogene 4 pseudogene pseudogene Approved 5q31.2 05q31.2 2016-10-25 2016-10-25 642262 ENSG00000249215 OTTHUMG00000163242 NG_009767 PGOHUM00000301134 HGNC:52405 +HGNC:15909 NCOA5 nuclear receptor coactivator 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "bA465L10.6|CIA" coactivator independent of AF-2 2001-06-21 2015-02-02 57727 ENSG00000124160 OTTHUMG00000032639 uc002xre.4 NM_020967 CCDS13392 Q9HCD5 "11780052|11113208" MGI:2385165 RGD:1307702 616825 HGNC:15909 "ENST00000290231.11|NM_020967.3" +HGNC:55095 NCOA5LP nuclear receptor coactivator 5 like, pseudogene pseudogene pseudogene Approved 16q12.1 16q12.1 2020-06-22 2020-06-22 2020-06-22 2020-06-22 118568822 ENSG00000283365 +HGNC:15936 NCOA6 nuclear receptor coactivator 6 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "KIAA0181|RAP250|ASC2|AIB3|PRIP|TRBP|NRC" "nuclear receptor coactivator RAP250|activating signal cointegrator-2|peroxisome proliferator-activated receptor interacting protein" 2001-12-19 2016-10-05 23054 ENSG00000198646 OTTHUMG00000032311 uc002xaw.4 AF128458 NM_014071 "CCDS74720|CCDS13241" Q14686 "8724849|8263591" MGI:1929915 RGD:620111 605299 HGNC:15936 "ENST00000359003.7|NM_014071.5" +HGNC:21081 NCOA7 nuclear receptor coactivator 7 protein-coding gene gene with protein product Approved 6q22.31-q22.32 06q22.31-q22.32 "ERAP140|dJ187J11.3|TLDC4" TBC/LysM-associated domain containing 4 TLDc domain containing 2055 2003-05-28 2021-05-10 135112 ENSG00000111912 OTTHUMG00000015513 uc003qae.5 AJ420542 NM_001199619 "CCDS56448|CCDS83125|CCDS5132" Q8NI08 11971969 MGI:2444847 RGD:1566426 609752 HGNC:21081 "ENST00000392477.7|NM_181782.5" +HGNC:40954 NCOA7-AS1 NCOA7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22.32 06q22.32 Antisense RNAs 1987 2013-07-01 2014-11-19 104355145 ENSG00000232131 OTTHUMG00000015510 AW444508 NR_126386 23801869 NCOA7-AS1 HGNC:40954 +HGNC:7672 NCOR1 nuclear receptor corepressor 1 protein-coding gene gene with protein product Approved 17p12-p11.2 17p12-p11.2 "N-CoR|hCIT529I10|TRAC1|hN-CoR|KIAA1047|MGC104216|PPP1R109" "thyroid hormone- and retinoic acid receptor-associated corepressor 1|protein phosphatase 1, regulatory subunit 109" nuclear receptor co-repressor 1 "Myb/SANT domain containing|Protein phosphatase 1 regulatory subunits|NCoR/SMRT transcriptional repression complex subunits" "532|694|1875" 1999-12-17 2010-06-10 2018-02-13 9611 ENSG00000141027 OTTHUMG00000059309 uc002gpo.4 AF044209 NM_006311 "CCDS54095|CCDS11175|CCDS54094" O75376 "7566114|9724795" MGI:1349717 RGD:3612 NCOR1 600849 HGNC:7672 "ENST00000268712.8|NM_006311.4" +HGNC:16724 NCOR1P1 NCOR1 pseudogene 1 pseudogene pseudogene Approved 20p11.1 20p11.1 bB329D4.2 C20orf191 "chromosome 20 open reading frame 191|nuclear receptor corepressor 1 pseudogene 1" 2001-12-07 2011-09-16 2019-10-14 2019-10-14 149934 ENSG00000240108 OTTHUMG00000032145 AL391119 NR_003678 Q9H4R4 PGOHUM00000259634 HGNC:16724 +HGNC:42997 NCOR1P2 NCOR1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 nuclear receptor corepressor 1 pseudogene 2 2011-09-16 2019-10-14 2019-10-14 729490 ENSG00000265019 OTTHUMG00000179019 NG_006551 PGOHUM00000294012 HGNC:42997 +HGNC:42996 NCOR1P3 NCOR1 pseudogene 3 pseudogene pseudogene Approved 7p11.2 07p11.2 nuclear receptor corepressor 1 pseudogene 3 2011-09-16 2019-10-14 2019-10-14 100874183 ENSG00000233601 OTTHUMG00000156081 NG_032541 PGOHUM00000233298 HGNC:42996 +HGNC:54557 NCOR1P4 NCOR1 pseudogene 4 pseudogene pseudogene Approved 21p11.2 21p11.2 2019-10-14 2019-10-14 105379511 ENSG00000279864 OTTHUMG00000189451 NR_135512 PGOHUM00000297320 +HGNC:7673 NCOR2 nuclear receptor corepressor 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SMRT|SMRTE|TRAC-1|CTG26|TNRC14" "silencing mediator of retinoic acid and thyroid hormone receptor|CTG repeat protein 26|thyroid-, retinoic-acid-receptor-associated corepressor" nuclear receptor co-repressor 2 "Myb/SANT domain containing|NCoR/SMRT transcriptional repression complex subunits" "532|1875" 1999-12-17 2010-06-10 2022-04-06 9612 ENSG00000196498 OTTHUMG00000150455 uc058uws.1 U37146 NM_006312 "CCDS41858|CCDS41857|CCDS55892" Q9Y618 "7566127|8813722" MGI:1337080 RGD:1310293 NCOR2 600848 HGNC:7673 +HGNC:6731 NCR1 natural cytotoxicity triggering receptor 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "NK-p46|NKP46|CD335" LY94 lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46) "CD molecules|Immunoglobulin like domain containing" "471|594" 1999-04-09 2002-11-15 2002-11-13 2014-11-19 9437 ENSG00000189430 OTTHUMG00000183212 uc002qib.3 AJ001383 NM_001145457 "CCDS46181|CCDS46182|CCDS56103|CCDS12911" O76036 9730896 MGI:1336212 RGD:621288 604530 CD335 HGNC:6731 "ENST00000291890.9|NM_004829.7" +HGNC:6732 NCR2 natural cytotoxicity triggering receptor 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "NK-p44|CD336" LY95 lymphocyte antigen 95 (activating NK-receptor; NK-p44) "CD molecules|V-set domain containing" "471|590" 1999-04-09 2002-11-15 2002-11-13 2015-09-01 9436 ENSG00000096264 OTTHUMG00000014678 uc003oqh.3 AJ225109 NM_001199509 "CCDS56428|CCDS4855|CCDS56429" O95944 10049942 RGD:1311406 604531 CD336 HGNC:6732 "ENST00000373089.10|NM_004828.4" +HGNC:19077 NCR3 natural cytotoxicity triggering receptor 3 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "1C7|NKp30|CD337" LY117 lymphocyte antigen 117 "CD molecules|V-set domain containing" "471|590" 2002-08-05 2002-11-15 2002-11-13 2016-10-05 259197 ENSG00000204475 OTTHUMG00000031123 uc003nuv.3 AB055881 NM_001145466 "CCDS47401|CCDS47402|CCDS34397" O14931 "8824804|11782277" MGI:2149332 RGD:727881 611550 objectId:3141 CD337 HGNC:19077 "ENST00000340027.10|NM_147130.3" +HGNC:42400 NCR3LG1 natural killer cell cytotoxicity receptor 3 ligand 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "DKFZp686O24166|B7-H6" B7 homolog 6 "Receptor ligands|C1-set domain containing|B7 family" "542|591|1824" 2012-04-12 2014-01-30 374383 ENSG00000188211 OTTHUMG00000165913 uc001mmz.5 NM_001202439 CCDS55748 Q68D85 19528259 RGD:1588614 613714 ligandId:11142 HGNC:42400 "ENST00000338965.9|NM_001202439.3" +HGNC:37153 NCRUPAR non-protein coding RNA, upstream of F2R/PAR1 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 "ncR-uPAR|NCRNA00193" "noncoding RNA upstream of the PAR-1|non-protein coding RNA 193" Long non-coding RNAs with non-systematic symbols 1992 2009-07-29 2020-05-04 100302746 NR_028375 12084570 ncR-uPAR NCRUPAR HGNC:37153 +HGNC:3953 NCS1 neuronal calcium sensor 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 NCS-1 FREQ "frequenin (Drosophila) homolog|frequenin homolog (Drosophila)" EF-hand domain containing 863 2000-06-09 2010-01-27 2010-01-27 2016-07-22 23413 ENSG00000107130 OTTHUMG00000020801 uc004bzi.2 AF186409 NM_014286 "CCDS6932|CCDS78448" P62166 "11092894|26705828" MGI:109166 RGD:68417 603315 HGNC:3953 "ENST00000372398.6|NM_014286.4" +HGNC:17091 NCSTN nicastrin protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "KIAA0253|APH2" 2005-02-08 2021-05-26 23385 ENSG00000162736 OTTHUMG00000033110 uc001fvx.4 AF240468 NM_015331 CCDS1203 Q92542 "9039502|10993067" MGI:1891700 RGD:631418 LRG_223|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_223.xml 605254 268347 HGNC:17091 "ENST00000294785.10|NM_015331.3" HGNC:17091 +HGNC:39606 NCSTNP1 nicastrin pseudogene 1 pseudogene pseudogene Approved 21q21.3 21q21.3 2011-03-17 2011-03-17 100873743 ENSG00000219592 OTTHUMG00000078705 NG_032328 HGNC:39606 +HGNC:25525 NDC1 NDC1 transmembrane nucleoporin protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "FLJ10407|NET3" nuclear division cycle 1 homolog (S. cerevisiae) TMEM48 transmembrane protein 48 Nucleoporins 1051 2005-04-22 2013-05-23 2013-05-23 2015-08-25 55706 ENSG00000058804 OTTHUMG00000008073 AL354613 NM_018087 CCDS583 Q9BTX1 "16779818|12958361" MGI:1920037 RGD:1560173 610115 HGNC:25525 "ENST00000371429.4|NM_018087.5" +HGNC:16909 NDC80 NDC80 kinetochore complex component protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "HEC|HEC1|hsNDC80|TID3" KNTC2 "highly expressed in cancer, rich in leucine heptad repeats (yeast)|kinetochore associated 2|NDC80 kinetochore complex component homolog (S. cerevisiae)" NDC80 kinetochore complex 1573 2004-01-15 2007-03-02 2019-01-22 2019-01-22 10403 ENSG00000080986 OTTHUMG00000131483 uc002kli.3 AF017790 NM_006101 CCDS11827 O14777 "9315664|12351790" MGI:1914302 RGD:1310154 607272 HGNC:16909 "ENST00000261597.9|NM_006101.3" +HGNC:17619 NDE1 nudE neurodevelopment protein 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "nudE|FLJ20101|NDE" "nudE nuclear distribution gene E homolog 1 (A. nidulans)|nudE nuclear distribution E homolog 1 (A. nidulans)" MicroRNA protein coding host genes 1691 2003-04-10 2013-08-06 2014-11-18 54820 ENSG00000072864 OTTHUMG00000129885 uc010uzy.3 AF124431 NM_017668 CCDS10564 Q9NXR1 "10940388|12427674" MGI:1914453 RGD:620038 609449 281616 HGNC:17619 "ENST00000396354.6|NM_017668.3" HGNC:17619 +HGNC:49115 NDE1P1 nudE neurodevelopment protein 1 pseudogene 1 pseudogene pseudogene Approved 1p13.3 01p13.3 2013-09-05 2013-09-05 100422372 NG_027124 PGOHUM00000244831 HGNC:49115 +HGNC:49116 NDE1P2 nudE neurodevelopment protein 1 pseudogene 2 pseudogene pseudogene Approved 13q13.3 13q13.3 2013-09-05 2013-09-05 106480247 ENSG00000271337 OTTHUMG00000184715 NG_045609 PGOHUM00000248363 HGNC:49116 +HGNC:17620 NDEL1 nudE neurodevelopment protein 1 like 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "NUDEL|MITAP1|NDE1L1|NDE2" "nudE nuclear distribution gene E homolog (A. nidulans)-like 1|nudE nuclear distribution E homolog (A. nidulans)-like 1" 2003-04-10 2003-04-16 2016-01-06 2016-01-06 81565 ENSG00000166579 OTTHUMG00000108193 uc060bbs.1 AF182078 NM_030808 "CCDS82070|CCDS11143|CCDS32564" Q9GZM8 "11163260|11163259" MGI:1932915 RGD:621235 607538 HGNC:17620 "ENST00000334527.12|NM_030808.5" +HGNC:17592 NDFIP1 Nedd4 family interacting protein 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "N4WBP5|MGC10924" 2003-02-07 2014-11-19 80762 ENSG00000131507 OTTHUMG00000129659 uc003lmi.5 BC004317 NM_030571 CCDS4273 Q9BT67 "11042109|11748237" MGI:1929601 RGD:1310053 612050 HGNC:17592 "ENST00000253814.6|NM_030571.4" +HGNC:49866 NDFIP1P1 Nedd4 family interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 2014-03-18 2014-03-18 100420792 ENSG00000255892 OTTHUMG00000169000 NG_050635 PGOHUM00000239364 HGNC:49866 +HGNC:18537 NDFIP2 Nedd4 family interacting protein 2 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 "KIAA1165|N4wbp5a" 2003-02-07 2016-10-05 54602 ENSG00000102471 OTTHUMG00000017136 uc001vlf.4 AB032991 NM_001161407 CCDS31998 Q9NV92 "10574461|12050153" MGI:1923523 RGD:1309716 610041 HGNC:18537 "ENST00000218652.12|NM_019080.3" +HGNC:40844 NDFIP2-AS1 NDFIP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 NDFIP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2021-07-21 100874208 ENSG00000232132 OTTHUMG00000017134 uc031qmm.1 NR_046685 NDFIP2-AS1 HGNC:40844 +HGNC:7675 NDN necdin, MAGE family member protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "HsT16328|PWCR" Prader-Willi syndrome chromosome region "necdin homolog (mouse)|necdin, melanoma antigen (MAGE) family member" MAGE family 1136 1997-10-13 2015-11-13 2021-04-13 4692 ENSG00000182636 OTTHUMG00000129161 uc001ywk.4 U35139 NM_002487 CCDS10014 Q99608 9302265 MGI:97290 RGD:1310526 LRG_1047|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1047.xml 602117 123710 HGNC:7675 "ENST00000649030.2|NM_002487.3" +HGNC:26256 NDNF neuron derived neurotrophic factor protein-coding gene gene with protein product Approved 4q27 04q27 FLJ23191 C4orf31 chromosome 4 open reading frame 31 2006-07-17 2011-07-05 2016-06-14 2016-06-14 79625 ENSG00000173376 OTTHUMG00000132973 uc003idq.2 BC019351 NM_024574 CCDS3717 Q8TB73 "12975309|20969804" MGI:1915419 RGD:1311080 616506 HGNC:26256 "ENST00000379692.9|NM_024574.4" HGNC:26256 +HGNC:55553 NDNF-AS1 NDNF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q27 04q27 Antisense RNAs 1987 2021-03-25 2021-03-25 105377400 ENSG00000250344 XR_001741805 +HGNC:29838 NDOR1 NADPH dependent diflavin oxidoreductase 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NR1|bA350O14.9|CIAE1" NADPH dependent FMN and FAD containing oxidoreductase Cytosolic iron-sulfur assembly components 1028 2004-05-17 2018-05-17 27158 ENSG00000188566 OTTHUMG00000020986 uc004clw.4 BC015735 NM_014434 "CCDS48061|CCDS7036|CCDS48062|CCDS48063" Q9UHB4 "10625700|12631275" MGI:1926047 RGD:1308479 606073 HGNC:29838 "ENST00000684003.1|NM_014434.4" +HGNC:7678 NDP norrin cystine knot growth factor NDP protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 norrin EVR2 "exudative vitreoretinopathy 2 (X-linked)|Norrie disease (pseudoglioma)" Receptor ligands 542 2001-06-22 2019-01-21 2019-01-21 4693 ENSG00000124479 OTTHUMG00000021391 uc004dga.5 X65882 NM_000266 CCDS14262 Q00604 8252044 MGI:102570 RGD:1563968 Mutations of the Norrie Disease Gene|http://www.retina-international.org/files/sci-news/ndgmut.htm 300658 123713 ligandId:1063 HGNC:7678 "ENST00000642620.1|NM_000266.4" HGNC:7678 +HGNC:40395 NDP-AS1 NDP antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 NDP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873919 ENSG00000236276 OTTHUMG00000021390 uc064yrp.1 NR_046631 NDP-AS1 HGNC:40395 +HGNC:7679 NDRG1 N-myc downstream regulated 1 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "DRG1|RTP|TDD5|NDR1" CAP43 NDRG family 1842 1998-12-23 2008-09-12 2021-04-13 10397 ENSG00000104419 OTTHUMG00000164441 uc003yuh.3 X92845 NM_001135242 "CCDS59112|CCDS59113|CCDS34945" Q92597 "9251681|8939898|18455888" MGI:1341799 RGD:1307303 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_258|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_258.xml" NDRG1 605262 123716 S33.988 HGNC:7679 "ENST00000323851.13|NM_006096.4" HGNC:7679 +HGNC:14460 NDRG2 NDRG family member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA1248|SYLD" "MicroRNA protein coding host genes|NDRG family" "1691|1842" 2001-01-24 2015-09-01 57447 ENSG00000165795 OTTHUMG00000029619 uc001vzd.3 AB033074 NM_001282211 "CCDS61386|CCDS9565|CCDS73613|CCDS61384|CCDS9564" Q9UN36 10831399 MGI:1352498 RGD:621874 605272 S33.989 HGNC:14460 "ENST00000556147.6|NM_001320329.2" +HGNC:14462 NDRG3 NDRG family member 3 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 NDRG family 1842 2001-01-24 2016-10-05 57446 ENSG00000101079 OTTHUMG00000032398 uc002xfw.4 AL031662 NM_022477 "CCDS13285|CCDS13284" Q9UGV2 "10831399|17998568" MGI:1352499 RGD:1359424 605273 S33.987 HGNC:14462 "ENST00000349004.6|NM_032013.4" +HGNC:14466 NDRG4 NDRG family member 4 protein-coding gene gene with protein product Approved 16q21 16q21 "KIAA1180|SMAP-8" NDRG family 1842 2001-01-25 2015-09-01 65009 ENSG00000103034 OTTHUMG00000133485 uc059vaz.1 AB044947 NM_001130487 "CCDS10797|CCDS45500|CCDS58467|CCDS55999|CCDS58465|CCDS86532|CCDS58466" Q9ULP0 "11352569|16408304" MGI:2384590 RGD:621593 614463 S33.986 HGNC:14466 "ENST00000570248.6|NM_001242835.2" +HGNC:7680 NDST1 N-deacetylase and N-sulfotransferase 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 NST1 "[Heparan sulfate]-glucosamine N-sulfotransferase 1|N-Deacetylase-N-sulfotransferase 1|heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1" HSST N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 Sulfotransferases, membrane bound 763 1995-08-10 2016-07-05 2021-05-26 3340 ENSG00000070614 OTTHUMG00000163572 uc003lsk.4 U18918 NM_001543 "CCDS75358|CCDS34277" P52848 "7601448|9230113" MGI:104719 RGD:69303 600853 414701 2.8.2.8 HGNC:7680 "ENST00000261797.7|NM_001543.5" HGNC:7680 +HGNC:52899 NDST1-AS1 NDST1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q33.1 05q33.1 Antisense RNAs 1987 2016-12-16 2016-12-16 102546298 ENSG00000254333 OTTHUMG00000163588 NR_105061 HGNC:52899 +HGNC:7681 NDST2 N-deacetylase and N-sulfotransferase 2 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "NST2|HSST2" N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 Sulfotransferases, membrane bound 763 1998-10-09 2016-07-05 2016-10-05 8509 ENSG00000166507 OTTHUMG00000018489 uc001jvk.3 U36601 NM_003635 "CCDS81476|CCDS7335" P52849 9601056 MGI:97040 RGD:1304700 603268 2.8.2.8 HGNC:7681 "ENST00000309979.11|NM_003635.4" HGNC:7681 +HGNC:7682 NDST3 N-deacetylase and N-sulfotransferase 3 protein-coding gene gene with protein product Approved 4q26 04q26 HSST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 Sulfotransferases, membrane bound 763 1999-03-22 2016-07-05 2016-07-05 9348 ENSG00000164100 OTTHUMG00000132959 uc003ibx.4 AF074924 NM_004784 CCDS3708 O95803 9915799 MGI:1932544 RGD:1310960 603950 2.8.2.8 HGNC:7682 "ENST00000296499.6|NM_004784.3" +HGNC:20779 NDST4 N-deacetylase and N-sulfotransferase 4 protein-coding gene gene with protein product Approved 4q26 04q26 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 Sulfotransferases, membrane bound 763 2004-01-12 2016-07-05 2016-07-05 64579 ENSG00000138653 OTTHUMG00000132916 uc003ibu.4 AB036429 NM_022569 CCDS3706 Q9H3R1 11087757 MGI:1932545 RGD:1306531 615039 2.8.2.8 HGNC:20779 "ENST00000264363.7|NM_022569.3" +HGNC:7683 NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 protein-coding gene gene with protein product Approved Xq24 Xq24 "MWFE|CI-MWFE" "NADH:ubiquinone oxidoreductase (complex 1)|type I dehydrogenase|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)|complex I MWFE subunit" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-08-16 2015-11-20 2021-05-26 4694 ENSG00000125356 OTTHUMG00000022287 uc004esc.5 NM_004541 CCDS14590 O15239 8938439 MGI:1929511 RGD:1560955 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NDUFA1 300078 139187 HGNC:7683 "ENST00000371437.5|NM_004541.4" HGNC:7683 +HGNC:7685 NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 B8 complex I B8 subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-08-30 2015-11-20 2021-05-26 4695 ENSG00000131495 OTTHUMG00000129505 uc003lgp.4 AF047185 NM_002488 "CCDS4234|CCDS54911" O43678 "9425316|9763676" MGI:1343103 RGD:1309997 602137 252455 HGNC:7685 "ENST00000252102.9|NM_002488.5" HGNC:7685 +HGNC:7686 NDUFA3 NADH:ubiquinone oxidoreductase subunit A3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 B9 complex I B9 subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 (9kD, B9)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-08-30 2015-11-20 2015-11-20 4696 ENSG00000170906 OTTHUMG00000064972 uc061cmg.1 AF044955 NM_004542 CCDS12877 O95167 9878551 MGI:1913341 RGD:1588687 603832 470732 HGNC:7686 "ENST00000485876.6|NM_004542.4" +HGNC:45043 NDUFA3P1 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 1 pseudogene pseudogene Approved 19q13.31 19q13.31 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 1 2013-01-25 2015-11-20 2015-11-20 100131388 ENSG00000267590 OTTHUMG00000182355 NG_030059 PGOHUM00000234718 HGNC:45043 +HGNC:45051 NDUFA3P2 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 2 pseudogene pseudogene Approved 11q13.2 11q13.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 2 2013-02-04 2015-11-20 2015-11-20 106479051 ENSG00000254856 OTTHUMG00000167668 NG_044507 PGOHUM00000242346 HGNC:45051 +HGNC:45052 NDUFA3P3 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 3 pseudogene pseudogene Approved 1q42.12 01q42.12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 3 2013-02-04 2015-11-20 2015-11-20 644482 ENSG00000213032 OTTHUMG00000037505 NG_030212 PGOHUM00000245223 HGNC:45052 +HGNC:45053 NDUFA3P4 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 4 pseudogene pseudogene Approved 15q26.1 15q26.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 4 2013-02-04 2015-11-20 2015-11-20 106480806 ENSG00000259262 OTTHUMG00000172360 NG_052946 PGOHUM00000247270 HGNC:45053 +HGNC:45054 NDUFA3P5 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 5 pseudogene pseudogene Approved 13q32.1 13q32.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 5 2013-02-04 2015-11-20 2015-11-20 112272577 NG_066012 PGOHUM00000248663 HGNC:45054 +HGNC:45055 NDUFA3P6 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 6 pseudogene pseudogene Approved 16p11.2 16p11.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 6 2013-02-04 2015-11-20 2015-11-20 106479052 ENSG00000262366 OTTHUMG00000177742 NG_044517 PGOHUM00000249056 HGNC:45055 +HGNC:7687 NDUFA4 NDUFA4 mitochondrial complex associated protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "MLRQ|CI-9k|COXFA4|MRCAF1|MISTR1" "complex I 9kDa subunit|NADH-ubiquinone oxidoreductase MLRQ subunit|cytochrome c oxidase subunit FA4|mitochondrial respiratory chain associated factor 1|mitochondrial stress response 1" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa|NDUFA4, mitochondrial complex associated" 1996-08-30 2019-01-25 2021-10-21 4697 ENSG00000189043 OTTHUMG00000023880 uc003srx.3 U94586 NM_002489 CCDS5357 O00483 "9352085|22902835|30030519|31419492" MGI:107686 RGD:1584719 603833 396654 HGNC:7687 "ENST00000339600.6|NM_002489.4" HGNC:7687 +HGNC:29836 NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "NUOMS|FLJ26118|COXFA4L2|MISTRH" "NADH-ubiquinone oxidoreductase MLRQ subunit homolog|cytochrome c oxidase subunit FA4 like 2|mitochondrial stress response hypoxia" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2|NDUFA4, mitochondrial complex associated like 2" 2006-03-30 2019-01-25 2021-04-29 56901 ENSG00000185633 OTTHUMG00000171275 uc001sno.4 BC011910 NM_020142 CCDS8935 Q9NRX3 "22100406|28429857" MGI:3039567 RGD:2324558 HGNC:29836 "ENST00000554503.6|NM_001394961.1" +HGNC:29835 NDUFA4P1 NDUFA4 pseudogene 1 pseudogene pseudogene Approved 1p13.3 01p13.3 "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 1|NDUFA4, mitochondrial complex associated pseudogene 1" 2006-03-30 2019-01-25 2020-04-06 360165 ENSG00000224550 OTTHUMG00000011031 AF206638 NG_002998 PGOHUM00000296437 HGNC:29835 +HGNC:31362 NDUFA4P2 NDUFA4 pseudogene 2 pseudogene pseudogene Approved 3q13.11 03q13.11 bcm1723 NDUFA4L "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 2|NDUFA4, mitochondrial complex associated pseudogene 2" 2004-03-12 2010-05-07 2019-01-25 2019-01-25 100287880 ENSG00000236691 OTTHUMG00000159095 NG_022262 PGOHUM00000238120 HGNC:31362 +HGNC:7688 NDUFA5 NADH:ubiquinone oxidoreductase subunit A5 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "B13|NUFM|CI-13KD-B|UQOR13|CI-13kB" "complex I 13kDa subunit B|ubiquinone reductase|type I dehydrogenase|NADH-ubiquinone oxidoreductase 13 kDa-B subunit" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-08-30 2015-11-20 2016-10-05 4698 ENSG00000128609 OTTHUMG00000157348 uc033afk.2 NM_005000 "CCDS75656|CCDS75655|CCDS5788|CCDS64760" Q16718 "9763677|9021153" MGI:1915452 RGD:3155 601677 470734 HGNC:7688 "ENST00000355749.7|NM_005000.5" +HGNC:7689 NDUFA5P1 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 1 pseudogene pseudogene Approved 11p15.4 11p15.4 "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, pseudogene 1|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 1" 1997-04-25 2015-11-20 2015-11-20 4699 ENSG00000232390 OTTHUMG00000011713 NG_031920 9021153 PGOHUM00000242554 HGNC:7689 +HGNC:48855 NDUFA5P2 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 2 pseudogene pseudogene Approved 8q22.3 08q22.3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 2 2013-06-19 2015-11-20 2015-11-20 102724035 ENSG00000253454 OTTHUMG00000164813 NG_034088 PGOHUM00000249768 HGNC:48855 +HGNC:48845 NDUFA5P3 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 3 pseudogene pseudogene Approved 9p22.1 09p22.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 3 2013-06-19 2015-11-20 2015-11-20 100288035 ENSG00000234853 OTTHUMG00000019641 NG_021609 PGOHUM00000235980 HGNC:48845 +HGNC:48846 NDUFA5P4 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 4 pseudogene pseudogene Approved 9p13.3 09p13.3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 4 2013-06-19 2015-11-20 2015-11-20 100128136 ENSG00000233659 OTTHUMG00000019881 NG_030085 PGOHUM00000236025 HGNC:48846 +HGNC:48847 NDUFA5P5 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 5 pseudogene pseudogene Approved 3p11.1 03p11.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 5 2013-06-19 2015-11-20 2015-11-20 100130327 ENSG00000242365 OTTHUMG00000159041 NG_030112 PGOHUM00000238095 HGNC:48847 +HGNC:48848 NDUFA5P6 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 6 pseudogene pseudogene Approved 12q24.32 12q24.32 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 6 2013-06-19 2015-11-20 2015-11-20 100288339 ENSG00000256310 OTTHUMG00000168472 NG_030134 PGOHUM00000239954 HGNC:48848 +HGNC:48849 NDUFA5P7 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 7 pseudogene pseudogene Approved Xq21.2 Xq21.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 7 2013-06-19 2015-11-20 2015-11-20 106481784 ENSG00000234039 OTTHUMG00000021938 NG_043869 PGOHUM00000241422 HGNC:48849 +HGNC:48850 NDUFA5P8 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 8 pseudogene pseudogene Approved 11p15.4 11p15.4 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 8 2013-06-19 2015-11-20 2015-11-20 103091863 ENSG00000236987 OTTHUMG00000011711 NG_034090 PGOHUM00000242553 HGNC:48850 +HGNC:48851 NDUFA5P9 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 9 pseudogene pseudogene Approved 6q14.3 06q14.3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 9 2013-06-19 2015-11-20 2015-11-20 100289579 ENSG00000220831 OTTHUMG00000015150 NG_030181 PGOHUM00000243277 HGNC:48851 +HGNC:48852 NDUFA5P10 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 10 pseudogene pseudogene Approved 1p13.3 01p13.3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 10 2013-06-19 2015-11-20 2015-11-20 102724853 ENSG00000224927 OTTHUMG00000011634 NG_034089 PGOHUM00000244139 HGNC:48852 +HGNC:48853 NDUFA5P11 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 11 pseudogene pseudogene Approved 16q12.1 16q12.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 11 2013-06-19 2015-11-20 2015-11-20 102724866 ENSG00000259918 OTTHUMG00000175533 NG_034087 PGOHUM00000248882 HGNC:48853 +HGNC:48854 NDUFA5P12 NADH:ubiquinone oxidoreductase subunit A5 pseudogene 12 pseudogene pseudogene Approved 8q11.1 08q11.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 12 2013-06-19 2015-11-20 2015-11-20 100288013 ENSG00000248531 OTTHUMG00000160522 NG_030254 PGOHUM00000249650 HGNC:48854 +HGNC:7690 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "B14|LYRM6|CI-B14|NADHB14" complex I B14 subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa" "LYR motif containing|NADH:ubiquinone oxidoreductase supernumerary subunits" "635|1150" 1996-08-30 2015-11-20 2021-05-26 4700 ENSG00000184983 OTTHUMG00000151287 uc062etx.1 AF047182 NM_002490 CCDS33656 P56556 "9763676|9425316" MGI:1914380 RGD:1309818 602138 470736 HGNC:7690 "ENST00000498737.8|NM_002490.6" HGNC:7690 +HGNC:45273 NDUFA6-DT NDUFA6 divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 NDUFA6-AS1 NDUFA6 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-03-18 2018-03-23 2018-03-23 2018-03-23 100132273 ENSG00000237037 OTTHUMG00000150917 uc003bcd.3 BC039542 NR_034118 NDUFA6-AS1 HGNC:45273 +HGNC:7691 NDUFA7 NADH:ubiquinone oxidoreductase subunit A7 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 B14.5a complex I B14.5a subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-11-15 2015-11-20 2015-11-20 4701 ENSG00000267855 OTTHUMG00000182459 uc002mjm.3 AF050637 NM_005001 CCDS42492 O95182 9763676 MGI:1913666 RGD:1304597 602139 470738 HGNC:7691 "ENST00000301457.3|NM_005001.5" +HGNC:7692 NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "PGIV|MGC793" complex I PGIV subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2015-11-20 4702 ENSG00000119421 OTTHUMG00000020598 uc004blv.4 AF044953 NM_014222 CCDS6835 P51970 9763677 MGI:1915625 RGD:1306283 603359 470740 HGNC:7692 "ENST00000373768.4|NM_014222.3" +HGNC:52264 NDUFA8P1 NADH:ubiquinone oxidoreductase subunit A8 pseudogene 1 pseudogene pseudogene Approved 10q22.2 10q22.2 2015-11-20 2015-11-20 107075207 ENSG00000271710 OTTHUMG00000184746 NG_030484 PGOHUM00000289907 HGNC:52264 +HGNC:7693 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 protein-coding gene gene with protein product Approved 12p13.3 12p13.3 "SDR22E1|CI-39k|COQ11" "short chain dehydrogenase/reductase family 22E, member 1|complex I 39kDa subunit" NDUFS2L "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa" "Short chain dehydrogenase/reductase superfamily|NADH:ubiquinone oxidoreductase supernumerary subunits" "743|1150" 1997-12-17 2015-11-20 2021-05-26 4704 ENSG00000139180 OTTHUMG00000168224 uc001qnc.4 AF050641 NM_005002 CCDS8532 Q16795 "8486360|19027726" MGI:1913358 RGD:1307307 603834 291742 HGNC:7693 "ENST00000266544.10|NM_005002.5" HGNC:7693 +HGNC:19252 NDUFA9P1 NADH:ubiquinone oxidoreductase subunit A9 pseudogene 1 pseudogene pseudogene Approved 22q12.3 22q12.3 dJ106I20.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 2002-09-18 2015-11-20 2015-11-20 266625 ENSG00000237406 OTTHUMG00000150636 AF196991 NG_002366 PGOHUM00000246321 HGNC:19252 +HGNC:7684 NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 CI-42k complex I 42kDa subunit "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2021-05-26 4705 ENSG00000130414 OTTHUMG00000133350 uc002vyn.3 AF087661 NM_004544 CCDS2531 O95299 9878551 MGI:1914523 RGD:727968 603835 265457 HGNC:7684 "ENST00000252711.7|NM_004544.4" HGNC:7684 +HGNC:20371 NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 B14.7 complex I B14.7 subunit NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa "NADH:ubiquinone oxidoreductase supernumerary subunits|Tim17 family" "1150|1857" 2003-12-03 2015-11-20 2020-04-21 126328 ENSG00000174886 OTTHUMG00000180617 uc002mdq.3 AJ539081 NM_175614 "CCDS54203|CCDS12155" Q86Y39 12381726 MGI:1917125 RGD:1303292 612638 183907 HGNC:20371 "ENST00000308961.5|NM_175614.5" HGNC:20371 +HGNC:23987 NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 protein-coding gene gene with protein product Approved 12q22 12q22 "DAP13|B17.2" complex I B17.2 subunit NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 NADH:ubiquinone oxidoreductase supernumerary subunits 1150 2005-07-19 2015-11-20 2015-11-20 55967 ENSG00000184752 OTTHUMG00000170098 uc001tdl.5 BC005936 NM_018838 "CCDS58263|CCDS9050" Q9UI09 "10830904|9827566" MGI:1913664 RGD:1311462 614530 437867 HGNC:23987 "ENST00000327772.7|NM_018838.5" HGNC:23987 +HGNC:39419 NDUFA12P1 NADH:ubiquinone oxidoreductase subunit A12 pseudogene 1 pseudogene pseudogene Approved 13q32.3 13q32.3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 pseudogene 1 2010-12-03 2015-11-20 2015-11-20 100527945 ENSG00000225999 OTTHUMG00000017281 NG_027984 PGOHUM00000248481 HGNC:39419 +HGNC:17194 NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "CGI-39|CDA016|GRIM-19|GRIM19|B16.6" complex I B16.6 subunit NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 NADH:ubiquinone oxidoreductase supernumerary subunits 1150 2005-07-20 2015-11-20 2016-04-25 51079 ENSG00000186010 OTTHUMG00000162211 uc021uqu.2 AF261134 NM_015965 CCDS12404 Q9P0J0 "12837546|10924506|15367666" MGI:1914434 RGD:6492821 609435 377743 HGNC:17194 "ENST00000507754.9|NM_015965.7" HGNC:17194 +HGNC:7694 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "SDAP|FASN2A|ACP|ACP1" "acyl carrier protein, mitochondrial|complex I SDAP subunit" "NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1 (8kD, SDAP)|NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2017-02-02 4706 ENSG00000004779 OTTHUMG00000096985 uc002dlw.4 AF087660 NM_005003 CCDS10614 O14561 "9763677|9878551" MGI:1917566 RGD:1305619 603836 470742 HGNC:7694 "ENST00000007516.8|NM_005003.3" +HGNC:52265 NDUFAB1P1 NADH:ubiquinone oxidoreductase subunit AB1 pseudogene 1 pseudogene pseudogene Approved 6q13 06q13 2015-11-20 2015-11-20 107075303 ENSG00000217767 OTTHUMG00000014995 NG_068465 PGOHUM00000301841 +HGNC:18828 NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "CIA30|CGI-65" NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 "Mitochondrial respiratory chain complex assembly factors|Mitochondrial complex I assembly complex" "645|1387" 2004-02-02 2015-12-16 2021-05-26 51103 ENSG00000137806 OTTHUMG00000130340 uc001znx.4 AF151823 NM_016013 CCDS10075 Q9Y375 "11935339|10810093" MGI:1916952 RGD:1306202 606934 289535 HGNC:18828 "ENST00000260361.9|NM_016013.4" HGNC:18828 +HGNC:28086 NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 protein-coding gene gene with protein product Approved 5q12.1 05q12.1 "B17.2L|MMTN|mimitin" Myc-induced mitochondrial protein NDUFA12L "NDUFA12-like|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2|NADH dehydrogenase (ubiquinone) complex I, assembly factor 2" Mitochondrial respiratory chain complex assembly factors 645 2006-07-31 2008-02-15 2015-12-16 2021-05-26 91942 ENSG00000164182 OTTHUMG00000131221 uc003jsp.4 AB183433 NM_174889 CCDS3979 Q8N183 "15774466|16200211|17383918" MGI:1922847 RGD:1560158 609653 123723 HGNC:28086 "ENST00000296597.10|NM_174889.5" HGNC:28086 +HGNC:54722 NDUFAF2P1 NDUFAF2 pseudogene 1 pseudogene pseudogene Approved 2p24.1 02p24.1 2019-12-11 2019-12-11 727919 ENSG00000279307 NG_006534 +HGNC:54723 NDUFAF2P2 NDUFAF2 pseudogene 2 pseudogene pseudogene Approved 11q24.3 11q24.3 2019-12-11 2019-12-11 100130783 ENSG00000255358 NG_007724 +HGNC:29918 NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "MGC10527|DKFZP564J0123|E3-3|2P1" C3orf60 "chromosome 3 open reading frame 60|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3|NADH dehydrogenase (ubiquinone) complex I, assembly factor 3" Mitochondrial respiratory chain complex assembly factors 645 2006-02-07 2009-03-18 2015-12-16 2021-05-26 25915 ENSG00000178057 OTTHUMG00000156773 uc003cvq.4 NM_199069 "CCDS2784|CCDS2785" Q9BU61 "19463981|12653254|9349717" MGI:1913956 RGD:708545 612911 201531 HGNC:29918 "ENST00000326925.11|NM_199069.2" HGNC:29918 +HGNC:21034 NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "HSPC125|bA22L21.1|My013|HRPAP20" C6orf66 "chromosome 6 open reading frame 66|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4|NADH dehydrogenase (ubiquinone) complex I, assembly factor 4" Mitochondrial respiratory chain complex assembly factors 645 2003-05-07 2009-03-18 2015-12-16 2021-05-26 29078 ENSG00000123545 OTTHUMG00000015246 uc003pow.4 AF161474 NM_014165 CCDS5037 Q9P032 "18179882|19463981" MGI:1915743 RGD:735162 611776 166690 HGNC:21034 "ENST00000316149.8|NM_014165.4" HGNC:21034 +HGNC:44194 NDUFAF4P1 NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 1 pseudogene pseudogene Approved 15q21.1 15q21.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 1 2012-06-30 2015-12-16 2015-12-16 100306975 ENSG00000259467 OTTHUMG00000172326 NR_036507 PGOHUM00000247112 HGNC:44194 +HGNC:44541 NDUFAF4P2 NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 2 pseudogene pseudogene Approved 7q21.3 07q21.3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 2 2012-11-15 2015-12-16 2015-12-16 402676 ENSG00000213483 OTTHUMG00000155771 NG_008702 PGOHUM00000233471 HGNC:44541 +HGNC:44542 NDUFAF4P3 NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 3 pseudogene pseudogene Approved 3p22.2 03p22.2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 3 2012-11-15 2015-12-16 2015-12-16 100422532 ENSG00000236411 OTTHUMG00000155922 NG_025565 PGOHUM00000237588 HGNC:44542 +HGNC:44543 NDUFAF4P4 NADH:ubiquinone oxidoreductase complex assembly factor 4 pseudogene 4 pseudogene pseudogene Approved 1q25.1 01q25.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 4 2012-11-15 2015-12-16 2015-12-16 100128889 ENSG00000231378 OTTHUMG00000034937 NG_030201 PGOHUM00000244344 HGNC:44543 +HGNC:15899 NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 dJ842G6.1 C20orf7 "chromosome 20 open reading frame 7|NADH dehydrogenase (ubiquinone) complex I, assembly factor 5" "Mitochondrial respiratory chain complex assembly factors|Seven-beta-strand methyltransferase motif containing" "645|1400" 2001-06-21 2012-05-08 2015-12-16 2021-05-26 79133 ENSG00000101247 OTTHUMG00000031909 uc002wom.4 NM_001039375 "CCDS33441|CCDS13118" Q5TEU4 "18940309|21607760" MGI:1916737 RGD:1309829 612360 169395 HGNC:15899 "ENST00000378106.10|NM_024120.5" HGNC:15899 +HGNC:28625 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 MGC40214 C8orf38 "chromosome 8 open reading frame 38|NADH dehydrogenase (ubiquinone) complex I, assembly factor 6" "Mitochondrial respiratory chain complex assembly factors|MicroRNA protein coding host genes" "645|1691" 2005-07-27 2012-05-08 2015-12-16 2021-05-26 137682 ENSG00000156170 OTTHUMG00000150173 uc003yhj.4 BC028166 NM_152416 "CCDS83307|CCDS6266" Q330K2 "22019594|23509070" MGI:1924197 RGD:1309085 612392 169399 HGNC:28625 "ENST00000396124.9|NM_152416.4" HGNC:28625 +HGNC:28816 NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "PRO1853|MidA" mitochondrial dysfunction protein A homolog C2orf56 "chromosome 2 open reading frame 56|NADH dehydrogenase (ubiquinone) complex I, assembly factor 7" "Mitochondrial respiratory chain complex assembly factors|7BS protein arginine methyltranferases" "645|2057" 2007-05-31 2012-10-12 2015-12-16 2015-12-16 55471 ENSG00000003509 OTTHUMG00000128468 uc002rqa.6 NM_144736 "CCDS42673|CCDS1788" Q7L592 MGI:1920944 RGD:1311578 615898 470744 HGNC:28816 "ENST00000002125.9|NM_144736.5" +HGNC:33551 NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 C17orf89 chromosome 17 open reading frame 89 Mitochondrial respiratory chain complex assembly factors 645 2007-07-27 2016-08-02 2016-08-02 2016-08-09 284184 ENSG00000224877 OTTHUMG00000177867 uc002jzx.3 BC127837 NM_001086521 CCDS45809 A1L188 "17287340|27499296" MGI:1913676 RGD:1590963 618461 HGNC:33551 "ENST00000431388.3|NM_001086521.2" HGNC:33551 +HGNC:7695 NDUFB1 NADH:ubiquinone oxidoreductase subunit B1 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "MNLL|CI-MNLL" complex I MNLL subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-11-15 2015-11-20 2015-11-20 4707 ENSG00000183648 OTTHUMG00000171180 uc001yaf.4 BC104672 NM_004545 CCDS9901 O75438 9763677 RGD:6487218 603837 470746 HGNC:7695 "ENST00000605997.6|NM_004545.4" +HGNC:30893 NDUFB1P1 NADH:ubiquinone oxidoreductase subunit B1 pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 bcm3095 NDUFB1P "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 1" 2008-01-31 2010-02-26 2015-11-20 2015-11-20 100190952 ENSG00000231884 OTTHUMG00000156836 NG_008709 PGOHUM00000299432 HGNC:30893 +HGNC:37815 NDUFB1P2 NADH:ubiquinone oxidoreductase subunit B1 pseudogene 2 pseudogene pseudogene Approved 1q41 01q41 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 2 2010-02-26 2015-11-20 2015-11-20 100380272 ENSG00000234523 OTTHUMG00000037892 NG_016728 PGOHUM00000296780 HGNC:37815 +HGNC:7697 NDUFB2 NADH:ubiquinone oxidoreductase subunit B2 protein-coding gene gene with protein product Approved 7q34 07q34 "AGGG|CI-AGGG" "NADH-ubiquinone oxidoreductase AGGG subunit|complex I AGGG subunit" "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-11-15 2015-11-20 2015-11-20 4708 ENSG00000090266 OTTHUMG00000157424 uc064ipf.1 AF050639 NM_004546 CCDS5862 O95178 "9763677|9878551" MGI:1915448 RGD:1308130 603838 HGNC:7697 "ENST00000247866.9|NM_004546.3" +HGNC:40396 NDUFB2-AS1 NDUFB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q34 07q34 NDUFB2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-19 100134713 ENSG00000240889 OTTHUMG00000157407 uc011krf.1 AK129584 NR_024454 NDUFB2-AS1 HGNC:40396 +HGNC:52266 NDUFB2P1 NADH:ubiquinone oxidoreductase subunit B2 pseudogene 2 pseudogene pseudogene Approved 4q32.1 04q32.1 2015-11-20 2015-11-20 107075208 ENSG00000249074 OTTHUMG00000161419 NG_046540 PGOHUM00000300407 HGNC:52266 +HGNC:7698 NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 B12 complex I B12 subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2021-05-26 4709 ENSG00000119013 OTTHUMG00000132820 uc002uwx.6 AF047183 NM_002491 CCDS2336 O43676 "9425316|11474204" MGI:1913745 RGD:1310737 603839 292321 HGNC:7698 "ENST00000237889.9|NM_002491.3" HGNC:7698 +HGNC:13673 NDUFB3P1 NADH:ubiquinone oxidoreductase subunit B3 pseudogene 1 pseudogene pseudogene Approved 1p13.3 01p13.3 "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12) pseudogene 1|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 1" 2000-09-28 2015-11-20 2015-11-20 93993 NG_000954 11474204 HGNC:13673 +HGNC:13674 NDUFB3P2 NADH:ubiquinone oxidoreductase subunit B3 pseudogene 2 pseudogene pseudogene Approved 9q33.3 09q33.3 "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12) pseudogene 2|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 2" 2000-09-28 2015-11-20 2015-11-20 93994 NG_000955 11474204 HGNC:13674 +HGNC:13675 NDUFB3P3 NADH:ubiquinone oxidoreductase subunit B3 pseudogene 3 pseudogene pseudogene Approved 14q22.1 14q22.1 "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12) pseudogene 3|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 3" 2000-09-28 2015-11-20 2015-11-20 93996 NG_000957 11474204 HGNC:13675 +HGNC:13676 NDUFB3P4 NADH:ubiquinone oxidoreductase subunit B3 pseudogene 4 pseudogene pseudogene Approved 14q32.2 14q32.2 "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12) pseudogene 4|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 4" 2000-09-28 2015-11-20 2015-11-20 93995 NG_029914 11474204 HGNC:13676 +HGNC:13677 NDUFB3P5 NADH:ubiquinone oxidoreductase subunit B3 pseudogene 5 pseudogene pseudogene Approved Xq27.2 Xq27.2 "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12) pseudogene 5|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 5" 2000-09-28 2015-11-20 2020-07-15 93997 ENSG00000227779 NG_000958 HGNC:13677 +HGNC:7699 NDUFB4 NADH:ubiquinone oxidoreductase subunit B4 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 B15 complex I B15 subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-09 2015-11-20 2015-11-20 4710 ENSG00000065518 OTTHUMG00000159442 uc003edu.4 AF044957 NM_004547 "CCDS54630|CCDS2999" O95168 9878551 MGI:1915444 RGD:1307072 603840 HGNC:7699 "ENST00000184266.3|NM_004547.6" +HGNC:45248 NDUFB4P1 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene 1 2013-03-11 2015-11-20 2015-11-20 100288654 ENSG00000242510 OTTHUMG00000158738 NG_030111 PGOHUM00000299456 HGNC:45248 +HGNC:45250 NDUFB4P2 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 2 pseudogene pseudogene Approved 5q11.2 05q11.2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene 2 2013-03-11 2015-11-20 2015-11-20 100132036 ENSG00000251306 OTTHUMG00000162215 NG_027957 PGOHUM00000300966 HGNC:45250 +HGNC:45251 NDUFB4P3 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2015-11-20 2015-11-20 100288420 ENSG00000231096 OTTHUMG00000059509 NG_030100 PGOHUM00000294315 HGNC:45251 +HGNC:45252 NDUFB4P4 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 4 pseudogene pseudogene Approved 2p23.3 02p23.3 2015-11-20 2015-11-20 107075092 ENSG00000217718 OTTHUMG00000152175 NG_046367 PGOHUM00000297815 HGNC:45252 +HGNC:45253 NDUFB4P5 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 5 pseudogene pseudogene Approved 2p11.2 02p11.2 2015-11-20 2015-11-20 107075096 ENSG00000226114 OTTHUMG00000153279 NG_046369 PGOHUM00000297948 HGNC:45253 +HGNC:45254 NDUFB4P6 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 6 pseudogene pseudogene Approved 2q14.1 02q14.1 2015-11-20 2015-11-20 107075097 ENSG00000235258 OTTHUMG00000153287 NG_046370 PGOHUM00000298076 HGNC:45254 +HGNC:45255 NDUFB4P7 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 7 pseudogene pseudogene Approved 2p11.2 02p11.2 2015-11-20 2015-11-20 107075094 ENSG00000225428 OTTHUMG00000151561 NG_046368 PGOHUM00000298507 HGNC:45255 +HGNC:45256 NDUFB4P8 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 8 pseudogene pseudogene Approved 1p36.33 01p36.33 2015-11-20 2015-11-20 107075246 ENSG00000223663 OTTHUMG00000002972 NG_046371 PGOHUM00000296187 HGNC:45256 +HGNC:45257 NDUFB4P9 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 9 pseudogene pseudogene Approved 4q31.1 04q31.1 2015-11-20 2015-11-20 107075211 ENSG00000249754 OTTHUMG00000161375 NG_068445 PGOHUM00000300012 +HGNC:45258 NDUFB4P10 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 10 pseudogene pseudogene Approved 20q13.12 20q13.12 2015-11-20 2015-11-20 107075105 ENSG00000232880 OTTHUMG00000032580 NG_046541 PGOHUM00000297005 HGNC:45258 +HGNC:45259 NDUFB4P11 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 11 pseudogene pseudogene Approved 14q32.32 14q32.32 2015-11-20 2015-11-20 107075247 ENSG00000259374 OTTHUMG00000171891 NG_046542 PGOHUM00000292770 HGNC:45259 +HGNC:45260 NDUFB4P12 NADH:ubiquinone oxidoreductase subunit B4 pseudogene 12 pseudogene pseudogene Approved 4p13 04p13 2015-11-20 2015-11-20 402175 ENSG00000124399 OTTHUMG00000160452 NG_030266 PGOHUM00000300192 HGNC:45260 +HGNC:7700 NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "SGDH|CI-SGDH|MGC12314" complex I SGDH subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-09 2015-11-20 2016-10-05 4711 ENSG00000136521 OTTHUMG00000157480 uc003fkc.4 AF047181 NM_002492 "CCDS75054|CCDS56297|CCDS3234" O43674 9425316 MGI:1913296 RGD:1305909 603841 470750 HGNC:7700 "ENST00000259037.8|NM_002492.4" +HGNC:52267 NDUFB5P1 NADH:ubiquinone oxidoreductase subunit B5 pseudogene 1 pseudogene pseudogene Approved 4q34.3 04q34.3 2015-11-20 2015-11-20 100288337 ENSG00000251025 OTTHUMG00000160962 NG_022040 PGOHUM00000300082 HGNC:52267 +HGNC:52268 NDUFB5P2 NADH:ubiquinone oxidoreductase subunit B5 pseudogene 2 pseudogene pseudogene Approved Xq21.33 Xq21.33 2015-11-20 2015-11-20 100422431 ENSG00000214628 OTTHUMG00000021988 NG_026737 PGOHUM00000304767 HGNC:52268 +HGNC:7701 NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "B17|CI" "NADH-ubiquinone oxidoreductase beta subunit, 6|NADH-ubiquinone oxidoreductase B17 subunit|complex I, mitochondrial respiratory chain, B17 subunit" "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-09 2015-11-20 2016-10-05 4712 ENSG00000165264 OTTHUMG00000019741 uc003zre.3 AF035840 NM_002493 "CCDS6529|CCDS75826|CCDS6528" O95139 "9763677|9760212" MGI:2684983 RGD:1311354 603322 470752 HGNC:7701 "ENST00000379847.8|NM_002493.5" +HGNC:7702 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "B18|CI-B18|MGC2480" "NADH-ubiquinone oxidoreductase B18 subunit|complex I B18 subunit" "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-09 2015-11-20 2015-11-20 4713 ENSG00000099795 OTTHUMG00000183291 uc002mzg.4 NM_004146 CCDS12314 P17568 "9763677|10830904" MGI:1914166 RGD:1308550 603842 470754 HGNC:7702 "ENST00000215565.3|NM_004146.6" +HGNC:7703 NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "ASHI|CI-ASHI" complex I ASHI subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1996-10-18 2015-11-20 2021-05-26 4714 ENSG00000166136 OTTHUMG00000019346 uc001kri.3 AF044958 NM_005004 "CCDS7497|CCDS65916|CCDS65917" O95169 9763676 MGI:1914514 RGD:1309129 602140 470756 HGNC:7703 "ENST00000299166.9|NM_005004.4" HGNC:7703 +HGNC:20023 NDUFB8P1 NADH:ubiquinone oxidoreductase subunit B8 pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 1 2003-01-13 2015-11-20 2017-10-26 326606 ENSG00000258972 OTTHUMG00000171641 NG_002595 PGOHUM00000292722 HGNC:20023 +HGNC:33978 NDUFB8P2 NADH:ubiquinone oxidoreductase subunit B8 pseudogene 2 pseudogene pseudogene Approved 17q23.1 17q23.1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 2 2008-01-31 2015-11-20 2017-10-26 729565 ENSG00000270264 OTTHUMG00000184889 XR_015999 PGOHUM00000294490 HGNC:33978 +HGNC:33979 NDUFB8P3 NADH:ubiquinone oxidoreductase subunit B8 pseudogene 3 pseudogene pseudogene Approved 11p13 11p13 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 3 2008-01-31 2015-11-20 2015-11-20 100132286 NG_007868 HGNC:33979 +HGNC:7704 NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "B22|UQOR22|LYRM3" complex I B22 subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa" "LYR motif containing|NADH:ubiquinone oxidoreductase supernumerary subunits" "635|1150" 1996-10-18 2015-11-20 2015-11-20 4715 ENSG00000147684 OTTHUMG00000165054 uc003yrg.5 AF044956 NM_005005 "CCDS6352|CCDS83324" Q9Y6M9 8661098 MGI:1913468 RGD:1307114 601445 292027 HGNC:7704 "ENST00000276689.8|NM_005005.3" HGNC:7704 +HGNC:52269 NDUFB9P1 NADH:ubiquinone oxidoreductase subunit B9 pseudogene 1 pseudogene pseudogene Approved 5q13.2 05q13.2 2015-11-20 2022-02-21 106050037 ENSG00000271045 OTTHUMG00000184558 NG_068449 PGOHUM00000300984 +HGNC:52270 NDUFB9P2 NADH:ubiquinone oxidoreductase subunit B9 pseudogene 2 pseudogene pseudogene Approved 7q32.3 07q32.3 2015-11-20 2015-11-20 100128596 ENSG00000236281 OTTHUMG00000155054 NG_030054 PGOHUM00000302430 HGNC:52270 +HGNC:52271 NDUFB9P3 NADH:ubiquinone oxidoreductase subunit B9 pseudogene 3 pseudogene pseudogene Approved 8q23.2 08q23.2 2015-11-20 2015-11-20 100129370 ENSG00000253994 OTTHUMG00000164906 NG_022402 PGOHUM00000303355 HGNC:52271 +HGNC:7696 NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 PDSW complex I PDSW subunit "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-09 2015-11-20 2015-11-20 4716 ENSG00000140990 OTTHUMG00000128709 uc002cni.3 AF044954 NM_004548 CCDS10451 O96000 "9763677|9878551" MGI:1915592 RGD:1310782 603843 470748 HGNC:7696 "ENST00000268668.11|NM_004548.3" HGNC:7696 +HGNC:52272 NDUFB10P1 NADH:ubiquinone oxidoreductase subunit B10 pseudogene 1 pseudogene pseudogene Approved 15q21.3 15q21.3 2015-11-20 2015-11-20 100128711 ENSG00000260870 OTTHUMG00000176412 NG_022109 PGOHUM00000292958 HGNC:52272 +HGNC:52273 NDUFB10P2 NADH:ubiquinone oxidoreductase subunit B10 pseudogene 2 pseudogene pseudogene Approved 7q34 07q34 2015-11-20 2015-11-20 107075304 ENSG00000261624 OTTHUMG00000172760 NG_068466 PGOHUM00000302966 +HGNC:20372 NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "ESSS|NP17.3|Np15" complex I NP17.3 subunit NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa NADH:ubiquinone oxidoreductase supernumerary subunits 1150 2004-09-02 2015-11-20 2021-05-26 54539 ENSG00000147123 OTTHUMG00000021433 uc004dhd.4 AF044213 NM_019056 "CCDS48100|CCDS14273" Q9NX14 "10544803|12381726" MGI:1349919 RGD:1563698 300403 426792 HGNC:20372 "ENST00000377811.4|NM_001135998.3" HGNC:20372 +HGNC:33980 NDUFB11P1 NADH:ubiquinone oxidoreductase subunit B11 pseudogene 1 pseudogene pseudogene Approved 11q14.3 11q14.3 NDUFB11P "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, pseudogene|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, pseudogene 1" 2008-01-31 2010-02-26 2015-11-20 2015-11-20 390239 ENSG00000235547 OTTHUMG00000154744 NG_009688 PGOHUM00000242424 HGNC:33980 +HGNC:7705 NDUFC1 NADH:ubiquinone oxidoreductase subunit C1 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 KFYI complex I KFYI subunit "NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1 (6kD, KFYI)|NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2015-11-20 4717 ENSG00000109390 OTTHUMG00000133387 uc021xsd.1 AF047184 NM_002494 CCDS3746 O43677 "9425316|9763677" MGI:1913627 RGD:1586362 603844 470758 HGNC:7705 "ENST00000394223.2|NM_001184989.2" +HGNC:7706 NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "B14.5b|HLC-1" "human lung cancer oncogene 1|complex I subunit B14.5b" "NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5kD, B14.5b)|NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1997-12-17 2015-11-20 2015-11-20 4718 ENSG00000151366 OTTHUMG00000166614 uc009yuw.4 AF087659 NM_004549 "CCDS55781|CCDS55779|CCDS8257" O95298 9878551 MGI:1344370 RGD:1307511 603845 470760 HGNC:7706 "ENST00000281031.5|NM_004549.6" HGNC:7706 +HGNC:42956 NDUFC2-KCTD14 NDUFC2-KCTD14 readthrough other readthrough Approved 11q14.1 11q14.1 2011-09-28 2011-09-28 100532726 ENSG00000259112 OTTHUMG00000171802 uc021qns.2 NM_001203260 "CCDS55780|CCDS73353|CCDS73354" E9PQ53 MGI:1344370 HGNC:42956 +HGNC:7707 NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 CI-75k "complex I 75kDa subunit|NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase core subunits 1149 1992-04-03 2015-11-20 2021-05-26 4719 ENSG00000023228 OTTHUMG00000132892 uc002vbe.4 NM_005006 "CCDS56165|CCDS56162|CCDS56163|CCDS56164|CCDS2366" P28331 1935949 MGI:2443241 RGD:1359670 157655 123727 1.6.5.3 HGNC:7707 "ENST00000233190.11|NM_005006.7" HGNC:7707 +HGNC:7708 NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 CI-49 "complex I 49kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase core subunits 1149 1992-06-30 2015-11-20 2021-05-26 4720 ENSG00000158864 OTTHUMG00000034344 uc001fyv.4 BC008868 NM_004550 "CCDS1224|CCDS53404" O75306 "1832859|9585441" MGI:2385112 RGD:1307109 602985 123729 1.6.5.3 HGNC:7708 "ENST00000676972.1|NM_001377299.1" HGNC:7708 +HGNC:7710 NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 CI-30 "complex I 30kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase core subunits 1149 1995-11-08 2015-11-20 2021-05-26 4722 ENSG00000213619 OTTHUMG00000166893 uc001nga.3 AF067139 NM_004551 CCDS7941 O75489 9763677 MGI:1915599 RGD:1309406 603846 123731 1.6.5.3 HGNC:7710 "ENST00000263774.9|NM_004551.3" HGNC:7710 +HGNC:7711 NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "AQDQ|CI-18" complex I 18kDa subunit "NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1995-11-08 2015-11-20 2021-05-26 4724 ENSG00000164258 OTTHUMG00000096987 uc003jpe.3 AF020351 NM_002495 CCDS3960 O43181 "9463323|9763677" MGI:1343135 RGD:1594380 602694 123733 HGNC:7711 "ENST00000296684.10|NM_002495.4" HGNC:7711 +HGNC:7712 NDUFS5 NADH:ubiquinone oxidoreductase subunit S5 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 CI-15k "complex I 51kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 5" "NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1995-11-08 2015-11-20 2016-10-05 4725 ENSG00000168653 OTTHUMG00000007497 uc001ccx.4 AF047434 NM_004552 CCDS434 O43920 "9763677|9653160" MGI:1890889 RGD:1311081 603847 470762 HGNC:7712 "ENST00000372969.8|NM_004552.3" +HGNC:44039 NDUFS5P1 NADH:ubiquinone oxidoreductase subunit S5 pseudogene 1 pseudogene pseudogene Approved 6q23.3 06q23.3 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 1 2012-05-29 2015-11-20 2015-11-20 100996944 ENSG00000218424 OTTHUMG00000016412 NG_033277 PGOHUM00000243389 HGNC:44039 +HGNC:44040 NDUFS5P2 NADH:ubiquinone oxidoreductase subunit S5 pseudogene 2 pseudogene pseudogene Approved 1p21.3 01p21.3 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 2 2012-05-29 2015-11-20 2015-11-20 100286918 ENSG00000234226 OTTHUMG00000010687 NG_021376 PGOHUM00000244117 HGNC:44040 +HGNC:44041 NDUFS5P3 NADH:ubiquinone oxidoreductase subunit S5 pseudogene 3 pseudogene pseudogene Approved 1p32.3 01p32.3 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 3 2012-05-29 2015-11-20 2015-11-20 100288149 ENSG00000233664 OTTHUMG00000008506 NG_021377 PGOHUM00000244724 HGNC:44041 +HGNC:44042 NDUFS5P4 NADH:ubiquinone oxidoreductase subunit S5 pseudogene 4 pseudogene pseudogene Approved 4q23 04q23 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 4 2012-05-29 2015-11-20 2015-11-20 100287817 ENSG00000251437 OTTHUMG00000161233 NG_021378 PGOHUM00000245630 HGNC:44042 +HGNC:44043 NDUFS5P5 NADH:ubiquinone oxidoreductase subunit S5 pseudogene 5 pseudogene pseudogene Approved 4q26 04q26 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 5 2012-05-29 2015-11-20 2015-11-20 100128177 ENSG00000230671 OTTHUMG00000161383 NG_021379 PGOHUM00000245671 HGNC:44043 +HGNC:44044 NDUFS5P6 NADH:ubiquinone oxidoreductase subunit S5 pseudogene 6 pseudogene pseudogene Approved 8q13.2 08q13.2 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 6 2012-05-29 2015-11-20 2015-11-20 106480785 ENSG00000255531 OTTHUMG00000165217 NG_044048 PGOHUM00000249700 HGNC:44044 +HGNC:44045 NDUFS5P7 NADH:ubiquinone oxidoreductase subunit S5 pseudogene 7 pseudogene pseudogene Approved 17q11.2 17q11.2 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 7 2012-05-29 2015-11-20 2015-11-20 100130794 NG_012737 PGOHUM00000250814 HGNC:44045 +HGNC:7713 NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 CI-13kA "complex I 13kDa subunit A|NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1995-11-08 2015-11-20 2021-05-26 4726 ENSG00000145494 OTTHUMG00000090372 uc003jcy.5 BC038664 NM_004553 CCDS3866 O75380 9763677 MGI:107932 RGD:3156 603848 123736 "1.6.99.3|1.6.5.3" HGNC:7713 "ENST00000274137.10|NM_004553.6" HGNC:7713 +HGNC:52274 NDUFS6P1 NADH:ubiquinone oxidoreductase subunit S6 pseudogene 1 pseudogene pseudogene Approved 3q22.2 03q22.2 2015-11-20 2015-11-20 107075209 ENSG00000241905 OTTHUMG00000159765 NG_046543 PGOHUM00000299186 HGNC:52274 +HGNC:7714 NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PSST|FLJ46880|FLJ45860|CI-20" "complex I 20kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)" NADH:ubiquinone oxidoreductase core subunits 1149 1996-07-26 2015-11-20 2021-05-26 374291 ENSG00000115286 OTTHUMG00000168077 uc002lse.5 AF115969 NM_024407 "CCDS86683|CCDS12063" O75251 8938450 MGI:1922656 RGD:1310013 601825 123738 HGNC:7714 "ENST00000233627.14|NM_024407.5" HGNC:7714 +HGNC:7715 NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "TYKY|CI-23k" "complex I 23kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial" "NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)|NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)" "NADH:ubiquinone oxidoreductase core subunits|MicroRNA protein coding host genes" "1149|1691" 1996-07-26 2015-11-20 2021-05-26 4728 ENSG00000110717 OTTHUMG00000167331 uc001onc.4 U65579 NM_002496 CCDS8176 O00217 "9666055|9116042" MGI:2385079 RGD:1309436 602141 123743 1.6.5.3 HGNC:7715 "ENST00000313468.10|NM_002496.4" HGNC:7715 +HGNC:7716 NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 CI-51K "complex I 51kDa subunit|NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial" "NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)|NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa" NADH:ubiquinone oxidoreductase core subunits 1149 1993-07-09 2015-11-20 2021-05-26 4723 ENSG00000167792 OTTHUMG00000166215 uc001omj.3 AF092131 NM_007103 "CCDS8173|CCDS53669" P49821 1478657 MGI:107851 RGD:1359247 161015 123745 1.6.5.3 HGNC:7716 "ENST00000322776.11|NM_007103.4" HGNC:7716 +HGNC:26915 NDUFV1-DT NDUFV1 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 FLJ90834 C11orf72 "chromosome 11 open reading frame 72 (putative)|chromosome 11 open reading frame 72|chromosome 11 putative open reading frame 72" Divergent transcripts 1990 2006-03-16 2021-03-05 2021-03-05 2021-03-05 100505621 ENSG00000184224 OTTHUMG00000156309 uc031xsu.2 AK075315 NR_130935 Q8NBR9 23964515 HGNC:26915 +HGNC:7717 NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 CI-24k "complex I 24kDa subunit|NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial" "NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)|NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa" NADH:ubiquinone oxidoreductase core subunits 1149 1994-09-07 2015-11-20 2021-05-26 4729 ENSG00000178127 OTTHUMG00000131593 uc002knu.3 X84421 NM_021074 CCDS11842 P19404 "9763677|7607668" MGI:1920150 RGD:621733 600532 123747 1.6.5.3 HGNC:7717 "ENST00000318388.11|NM_021074.5" HGNC:7717 +HGNC:50826 NDUFV2-AS1 NDUFV2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.22 18p11.22 Antisense RNAs 1987 2014-06-21 2014-06-25 101927275 ENSG00000266053 OTTHUMG00000179232 NR_110771 NDUFV2-AS1 HGNC:50826 +HGNC:7718 NDUFV2P1 NADH:ubiquinone oxidoreductase core subunit V2 pseudogene 1 pseudogene pseudogene Approved 19q13.42 19q13.42 NADH dehydrogenase (ubiquinone) flavoprotein 2 pseudogene 1 1994-09-07 2015-11-20 2015-11-20 4730 ENSG00000267809 OTTHUMG00000182889 X84682 NG_001161 7607668 PGOHUM00000295119 HGNC:7718 +HGNC:7719 NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 CI-10k complex I 10kDa subunit "NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)|NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa" NADH:ubiquinone oxidoreductase supernumerary subunits 1150 1994-09-07 2015-11-20 2015-11-20 4731 ENSG00000160194 OTTHUMG00000086823 uc002zcn.4 NM_001001503 "CCDS33572|CCDS33573" P56181 9344673 MGI:1890894 RGD:621020 602184 470764 1.6.5.3 HGNC:7719 "ENST00000354250.7|NM_021075.4" +HGNC:30815 NEAT1 nuclear paraspeckle assembly transcript 1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 "TncRNA|MENepsilon/beta|LINC00084|VINC" "trophoblast derived non-protein coding RNA|nuclear enriched abundant transcript 1|long intergenic non-protein coding RNA 84|virus inducible non-coding RNA" NCRNA00084 "non-protein coding RNA 84|nuclear paraspeckle assembly transcript 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2008-09-02 2009-07-24 2018-05-16 2019-05-30 283131 ENSG00000245532 OTTHUMG00000166321 uc010rog.3 AF080092 NR_028272 "9253601|9858482|19217333" MGI:1914211 612769 NEAT1 NEAT1 HGNC:30815 +HGNC:7720 NEB nebulin protein-coding gene gene with protein product Approved 2q23.3 02q23.3 NEB177D nemaline myopathy type 2 NEM2 2001-06-22 2021-04-13 4703 ENSG00000183091 OTTHUMG00000153784 uc031rpp.1 X83957 NM_004543 "CCDS46424|CCDS54407|CCDS74588|CCDS54408" P20929 "10051637|9359044" MGI:97292 RGD:1311134 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=NEB|LRG_202|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_202.xml" 161650 123749 HGNC:7720 "ENST00000397345.8|NM_001164508.2" HGNC:7720 +HGNC:16932 NEBL nebulette protein-coding gene gene with protein product Approved 10p12.31 10p12.31 "LASP2|LNEBL|bA165O3.1" "LIM and SH3 protein 2|LIM-nebulette" C10orf113 chromosome 10 open reading frame 113 LIM domain containing 1218 2004-05-27 2021-04-13 10529 ENSG00000078114 OTTHUMG00000017788 uc001iqk.4 Y16241 NM_006393 "CCDS7134|CCDS7133" O76041 "9733644|10470015" MGI:1921353 RGD:1308315 LRG_411|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_411.xml 605491 470766 HGNC:16932 "ENST00000377122.9|NM_006393.3" HGNC:16932 +HGNC:44899 NEBL-AS1 NEBL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.31 10p12.31 Antisense RNAs 1987 2012-12-12 2012-12-12 100128511 ENSG00000231920 OTTHUMG00000017789 uc031ptk.3 NR_046283 NEBL-AS1 HGNC:44899 +HGNC:20983 NECAB1 N-terminal EF-hand calcium binding protein 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 EFCBP1 EF-hand calcium binding protein 1 "N-terminal EF-hand calcium binding proteins|EF-hand domain containing" "663|863" 2003-04-30 2007-12-06 2007-12-06 2014-11-19 64168 ENSG00000123119 OTTHUMG00000164009 uc011lgg.3 AF414126 NM_022351 CCDS47889 Q8N987 MGI:1916602 RGD:708548 HGNC:20983 "ENST00000417640.7|NM_022351.5" +HGNC:23746 NECAB2 N-terminal EF-hand calcium binding protein 2 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 EFCBP2 EF-hand calcium binding protein 2 "N-terminal EF-hand calcium binding proteins|EF-hand domain containing" "663|863" 2004-01-27 2007-12-06 2007-12-06 2016-10-05 54550 ENSG00000103154 OTTHUMG00000137636 uc002fhd.4 AY299331 NM_019065 "CCDS82019|CCDS10940" Q7Z6G3 12044471 MGI:2152211 RGD:621844 618130 HGNC:23746 "ENST00000305202.9|NM_019065.3" +HGNC:15851 NECAB3 N-terminal EF-hand calcium binding protein 3 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "XB51|dJ63M2.4|NIP1|dJ63M2.5|EFCBP3" EF-hand calcium binding protein 3 "SYTIP2|APBA2BP" amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein "N-terminal EF-hand calcium binding proteins|EF-hand domain containing" "663|863" 2001-06-21 2007-12-06 2007-12-06 2016-10-05 63941 ENSG00000125967 OTTHUMG00000032264 uc002wzn.5 AB039947 NM_031231 "CCDS42867|CCDS42866" Q96P71 10833507 MGI:1861721 RGD:1310124 612478 HGNC:15851 "ENST00000246190.11|NM_031232.4" +HGNC:24539 NECAP1 NECAP endocytosis associated 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 DKFZP566B183 adaptin-ear-binding coat-associated protein 1 2005-08-15 2021-05-26 25977 ENSG00000089818 OTTHUMG00000168568 uc001qtx.3 AK074923 NM_015509 CCDS8589 Q8NC96 "14555962|15494011" MGI:1914852 RGD:1306053 611623 400742 HGNC:24539 "ENST00000339754.11|NM_015509.4" HGNC:24539 +HGNC:43912 NECAP1P1 NECAP endocytosis associated 1 pseudogene 1 pseudogene pseudogene Approved 7p14.1 07p14.1 2012-05-02 2014-11-19 442668 ENSG00000178503 OTTHUMG00000154990 NG_009426 PGOHUM00000232653 HGNC:43912 +HGNC:43913 NECAP1P2 NECAP endocytosis associated 1 pseudogene 2 pseudogene pseudogene Approved 2p13.1 02p13.1 2012-05-02 2014-11-19 106479026 ENSG00000234632 OTTHUMG00000152815 NG_044304 PGOHUM00000240690 HGNC:43913 +HGNC:25528 NECAP2 NECAP endocytosis associated 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 FLJ10420 adaptin-ear-binding coat-associated protein 2 2005-08-15 2019-05-20 55707 ENSG00000157191 OTTHUMG00000002313 uc001ayo.4 AK021938 NM_018090 "CCDS44066|CCDS44067|CCDS173" Q9NVZ3 "14555962|15494011" MGI:1913397 RGD:735063 611624 HGNC:25528 "ENST00000337132.10|NM_018090.5" +HGNC:9706 NECTIN1 nectin cell adhesion molecule 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "PRR|PRR1|PVRR1|SK-12|HIgR|CLPED1|CD111|OFC7" nectin "HVEC|ED4|PVRL1" poliovirus receptor-related 1 (herpesvirus entry mediator C) "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 1999-11-15 2016-02-12 2016-02-12 2016-02-12 5818 ENSG00000110400 OTTHUMG00000166177 uc001pwv.4 X76400 NM_002855 "CCDS8426|CCDS8425|CCDS8427" Q15223 "7721102|9616127" MGI:1926483 RGD:620791 600644 118162 CD111 HGNC:9706 "ENST00000264025.8|NM_002855.5" HGNC:9706 +HGNC:54270 NECTIN1-AS1 NECTIN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Antisense RNAs 1987 2019-04-25 2019-04-25 105369525 ENSG00000255247 XR_948077 HGNC:54270 +HGNC:55513 NECTIN1-DT NECTIN1 divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Divergent transcripts 1990 2021-03-17 2021-03-17 102724301 ENSG00000254854 NR_120587 +HGNC:9707 NECTIN2 nectin cell adhesion molecule 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "PVRR2|PRR2|CD112" "HVEB|PVRL2" poliovirus receptor-related 2 (herpesvirus entry mediator B) "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 1999-11-15 2016-02-12 2016-02-12 2016-02-12 5819 ENSG00000130202 OTTHUMG00000180839 uc002ozv.4 X80038 NM_002856 "CCDS12645|CCDS42576" Q92692 "7622062|10196354" MGI:97822 RGD:1309505 600798 CD112 HGNC:9707 "ENST00000252483.10|NM_001042724.2" +HGNC:17664 NECTIN3 nectin cell adhesion molecule 3 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "nectin-3|PPR3|PVRR3|DKFZP566B0846|CDw113|CD113" PVRL3 poliovirus receptor-related 3 "CD molecules|V-set domain containing|C2-set domain containing|I-set domain containing|Nectins and nectin-like molecules" "471|590|592|593|1855" 2004-02-11 2016-02-12 2016-02-12 2016-10-05 25945 ENSG00000177707 OTTHUMG00000159239 uc003dxt.3 AF282874 NM_015480 "CCDS58843|CCDS58842|CCDS2957" Q9NQS3 11024295 MGI:1930171 RGD:1309516 607147 CDw113 HGNC:17664 "ENST00000485303.6|NM_015480.3" +HGNC:40813 NECTIN3-AS1 NECTIN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.13 03q13.13 PVRL3-AS1 "PVRL3 antisense RNA 1 (non-protein coding)|PVRL3 antisense RNA 1" Antisense RNAs 1987 2011-07-28 2017-05-03 2017-05-03 2017-05-03 100506555 ENSG00000242242 OTTHUMG00000159244 uc062mid.1 NR_045114 HGNC:40813 +HGNC:19688 NECTIN4 nectin cell adhesion molecule 4 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "nectin-4|PRR4|LNIR" PVRL4 poliovirus receptor-related 4 "V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "590|592|1855" 2004-02-11 2016-02-12 2016-02-12 2016-02-12 81607 ENSG00000143217 OTTHUMG00000031475 uc001fxo.3 AF426163 NM_030916 CCDS1216 Q96NY8 11544254 MGI:1918990 RGD:1559826 609607 251683 objectId:3112 HGNC:19688 "ENST00000368012.4|NM_030916.3" HGNC:19688 +HGNC:40893 NECTIN4-AS1 NECTIN4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Antisense RNAs 1987 2020-03-19 2020-03-19 105371471 ENSG00000228917 OTTHUMG00000031478 XR_001738268 +HGNC:7723 NEDD1 NEDD1 gamma-tubulin ring complex targeting factor protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "GCP-WD|TUBGCP7" tubulin gamma complex associated protein 7 neural precursor cell expressed, developmentally down-regulated 1 WD repeat domain containing 362 1994-01-21 2019-04-04 2019-04-04 121441 ENSG00000139350 OTTHUMG00000170604 uc001teu.5 NM_001135175 "CCDS44956|CCDS44955|CCDS9063" Q8NHV4 MGI:97293 RGD:1307750 600372 HGNC:7723 "ENST00000266742.9|NM_152905.4" +HGNC:7727 NEDD4 NEDD4 E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "KIAA0093|MGC176705|NEDD4-1|RPF1" receptor-potentiating factor 1 "neural precursor cell expressed, developmentally down-regulated 4|neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase" HECT domain containing 1959 1994-01-21 2019-04-04 2019-04-04 4734 ENSG00000069869 OTTHUMG00000132015 uc002adl.5 D42055 NM_198400 "CCDS61643|CCDS45265|CCDS10156|CCDS61644" P46934 "9073511|8649367" MGI:97297 RGD:3157 602278 HGNC:7727 "ENST00000435532.8|NM_006154.4" +HGNC:7728 NEDD4L NEDD4 like E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 18q21.31 18q21.31 "KIAA0439|RSP5|NEDD4-2" "neural precursor cell expressed, developmentally down-regulated 4-like|neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase" "C2 domain containing|HECT domain containing" "823|1959" 2000-03-14 2019-04-04 2019-04-04 23327 ENSG00000049759 OTTHUMG00000179875 uc002lgy.4 AF210730 NM_001144964 "CCDS45876|CCDS58632|CCDS45873|CCDS45872|CCDS45875|CCDS45874|CCDS59323" Q96PU5 "10594025|11244092|18322022" MGI:1933754 RGD:735047 606384 470768 HGNC:7728 "ENST00000400345.8|NM_001144967.3" HGNC:7728 +HGNC:7732 NEDD8 NEDD8 ubiquitin like modifier protein-coding gene gene with protein product Approved 14q12 14q12 Nedd-8 neural precursor cell expressed, developmentally down-regulated 8 1994-01-21 2019-04-04 2019-04-04 4738 ENSG00000129559 OTTHUMG00000029325 uc001wnn.3 D23662 NM_006156 CCDS9621 Q15843 9353319 MGI:97301 RGD:3158 603171 HGNC:7732 "ENST00000250495.10|NM_006156.3" +HGNC:39551 NEDD8-MDP1 NEDD8-MDP1 readthrough other readthrough Approved 14q12 14q12 2011-02-21 2014-11-19 100528064 ENSG00000255526 OTTHUMG00000167107 uc059ace.1 NM_001199823.1 HGNC:39551 +HGNC:54555 NEDD8P1 NEDD8 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 2019-10-14 2019-10-14 100128775 ENSG00000226970 NG_028020 +HGNC:7733 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "HEF1|CAS-L|CASS2" "Cas scaffolding protein family member 2|Cas-like" Cas scaffold proteins 469 1994-01-21 2015-08-25 4739 ENSG00000111859 OTTHUMG00000014255 uc063lwa.1 L43821 NM_006403 "CCDS34340|CCDS47373|CCDS75400|CCDS4520" Q14511 MGI:97302 RGD:1306276 602265 HGNC:7733 "ENST00000379446.10|NM_006403.4" +HGNC:7737 NEFH neurofilament heavy chain protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "NF-H|NFH" "neurofilament, heavy polypeptide 200kDa|neurofilament heavy polypeptide|neurofilament heavy" Intermediate filaments Type IV 611 1988-08-31 2021-03-23 2021-03-23 4744 ENSG00000100285 OTTHUMG00000151155 uc003afo.4 NM_021076 CCDS13858 P12036 MGI:97309 RGD:3159 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 162230 123752 HGNC:7737 HGNC:7737 "ENST00000310624.7|NM_021076.4" HGNC:7737 +HGNC:7738 NEFHP1 neurofilament heavy pseudogene 1 pseudogene pseudogene Approved 1p13.1 01p13.1 neurofilament, heavy polypeptide 200kDa (NEFH) pseudogene NEFHL "neurofilament, heavy polypeptide-like|neurofilament, heavy polypeptide-like pseudogene|neurofilament, heavy polypeptide pseudogene 1" 1989-05-10 2010-10-15 2016-12-07 2020-04-20 339396 ENSG00000223489 OTTHUMG00000022752 NG_022735 PGOHUM00000244157 HGNC:7738 +HGNC:7739 NEFL neurofilament light chain protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "NFL|CMT1F|CMT2E|NF68|PPP1R110" protein phosphatase 1, regulatory subunit 110 "neurofilament, light polypeptide 68kDa|neurofilament, light polypeptide|neurofilament light" "Intermediate filaments Type IV|Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "611|694|1691" 2001-06-22 2021-03-23 2021-04-13 4747 ENSG00000277586 OTTHUMG00000134284 uc033bfe.2 NM_006158 CCDS75712 P07196 "17620486|3145240" MGI:97313 RGD:621458 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_259|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_259.xml" 162280 123754 HGNC:7739 HGNC:7739 "ENST00000610854.2|NM_006158.5" HGNC:7739 +HGNC:37662 NEFLP1 neurofilament light pseudogene 1 pseudogene pseudogene Approved Yq11.223 Yq11.223 neurofilament, light polypeptide pseudogene 1 2009-12-16 2016-12-07 2016-12-07 359795 ENSG00000232634 OTTHUMG00000036542 NG_002813 12815422 HGNC:37662 +HGNC:7734 NEFM neurofilament medium chain protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "NFM|NF-M" NEF3 "neurofilament, medium polypeptide 150kDa|neurofilament, medium polypeptide|neurofilament medium" Intermediate filaments Type IV 611 1989-10-18 2006-11-20 2021-03-23 2021-03-23 4741 ENSG00000104722 OTTHUMG00000131990 uc003xed.5 BC002421 NM_005382 "CCDS6046|CCDS47831" P07197 1348579 MGI:97314 RGD:3160 162250 HGNC:7734 HGNC:7734 "ENST00000221166.10|NM_005382.2" +HGNC:45030 NEFMP1 neurofilament medium pseudogene 1 pseudogene pseudogene Approved 10q21.1 10q21.1 neurofilament, medium polypeptide pseudogene 1 2013-01-08 2016-12-07 2016-12-07 100420737 ENSG00000224697 OTTHUMG00000018258 NG_025505 PGOHUM00000238803 HGNC:45030 +HGNC:17302 NEGR1 neuronal growth regulator 1 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KILON|MGC46680|Ntra|IGLON4" "a kindred of IgLON|neurotractin|IgLON family member 4" "I-set domain containing|IgLON cell adhesion molecules" "593|1052" 2003-09-09 2014-11-19 257194 ENSG00000172260 OTTHUMG00000009698 uc001dfw.4 AK092307 NM_173808 CCDS661 Q7Z3B1 10075727 MGI:2444846 RGD:708416 613173 HGNC:17302 "ENST00000357731.10|NM_173808.3" +HGNC:41432 NEGR1-IT1 NEGR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 NEGR1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-11-22 2015-02-25 2015-02-25 100852409 ENSG00000228853 OTTHUMG00000009732 uc031pmw.1 BC042082 NR_046218 NEGR1-IT1 HGNC:41432 +HGNC:18448 NEIL1 nei like DNA glycosylase 1 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "FLJ22402|hFPG1|NEI1|FPG1" DNA endonuclease eight-like glycosylase 1 nei endonuclease VIII-like 1 (E. coli) DNA glycosylases 1024 2002-04-26 2016-01-18 2016-10-05 79661 ENSG00000140398 OTTHUMG00000142821 uc002bad.5 AK026055 NM_024608 CCDS10278 Q96FI4 11904416 MGI:1920024 RGD:1306077 608844 HGNC:18448 "ENST00000355059.9|NM_024608.4" +HGNC:18956 NEIL2 nei like DNA glycosylase 2 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "NEH2|FLJ31644|MGC2832|MGC4505" "nei like 2 (E. coli)|nei endonuclease VIII-like 2 (E. coli)" DNA glycosylases 1024 2002-07-25 2016-01-18 2016-01-18 252969 ENSG00000154328 OTTHUMG00000090753 uc003wue.3 AK056206 NM_145043 "CCDS5984|CCDS47803|CCDS47802" Q969S2 "12097317|17686777" MGI:2686058 RGD:1312033 608933 HGNC:18956 "ENST00000284503.7|NM_145043.4" +HGNC:24573 NEIL3 nei like DNA glycosylase 3 protein-coding gene gene with protein product Approved 4q34.3 04q34.3 "FLJ10858|hFPG2|FPG2|hNEI3|ZGRF3" zinc finger, GRF-type containing 3 nei endonuclease VIII-like 3 (E. coli) "Zinc fingers RANBP2-type |Zinc fingers GRF-type|DNA glycosylases" "89|135|1024" 2005-01-26 2016-01-18 2016-10-05 55247 ENSG00000109674 OTTHUMG00000160722 uc003iut.3 AB079071 NM_018248 CCDS3828 Q8TAT5 "12713815|12509226|19170771|23755964" MGI:2384588 RGD:1310562 608934 "3.2.2.-|4.2.99.18" HGNC:24573 "ENST00000264596.4|NM_018248.3" +HGNC:7744 NEK1 NIMA related kinase 1 protein-coding gene gene with protein product Approved 4q33 04q33 "NY-REN-55|KIAA1901" NIMA (never in mitosis gene a)-related kinase 1 1998-08-26 2016-01-13 2021-05-26 4750 ENSG00000137601 OTTHUMG00000160963 uc003isb.3 AB067488 NM_001199397 "CCDS56351|CCDS56349|CCDS56348|CCDS47162|CCDS56350" Q96PY6 "1382974|8274451" MGI:97303 RGD:1309375 604588 258621 objectId:2114 HGNC:7744 "ENST00000507142.6|NM_001199397.3" HGNC:7744 +HGNC:7745 NEK2 NIMA related kinase 2 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "NLK1|NEK2A|RP67|PPP1R111" "HsPK 21|protein phosphatase 1, regulatory subunit 111" NIMA (never in mitosis gene a)-related kinase 2 Protein phosphatase 1 regulatory subunits 694 1998-08-26 2016-01-13 2016-01-13 4751 ENSG00000117650 OTTHUMG00000037121 uc001hir.3 U11050 NM_002497 "CCDS73024|CCDS1500|CCDS55682" P51955 "8274451|24043777" MGI:109359 RGD:619792 604043 368150 objectId:2117 HGNC:7745 "ENST00000366999.9|NM_002497.4" HGNC:7745 +HGNC:28085 NEK2-DT NEK2 divergent transcript non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 Divergent transcripts 1990 2021-07-22 2021-07-22 91548 ENSG00000231057 NR_148994 +HGNC:19272 NEK2P1 NEK2 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 NEK2P NEK2 pseudogene 2003-01-13 2010-02-26 2010-02-26 2020-04-07 326302 ENSG00000277367 OTTHUMG00000188379 NG_002554 PGOHUM00000248029 C19.P01 HGNC:19272 +HGNC:37816 NEK2P2 NEK2 pseudogene 2 pseudogene pseudogene Approved 22q11.1 22q11.1 2010-02-26 2014-11-19 100379667 ENSG00000231565 OTTHUMG00000140351 NG_016726 PGOHUM00000246368 HGNC:37816 +HGNC:37817 NEK2P3 NEK2 pseudogene 3 pseudogene pseudogene Approved 14q11.1 14q11.1 2010-02-26 2014-11-19 100158258 NG_007923 PGOHUM00000247698 HGNC:37817 +HGNC:37818 NEK2P4 NEK2 pseudogene 4 pseudogene pseudogene Approved 2q21.1 02q21.1 2010-02-26 2014-11-19 100381202 ENSG00000230450 OTTHUMG00000153538 NG_016766 PGOHUM00000240306 HGNC:37818 +HGNC:7746 NEK3 NIMA related kinase 3 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "HSPK36|MGC29949" "serine/threonine-protein kinase NEK3|phosphorylase B kinase kinase|glycogen synthase A kinase|hydroxyalkyl-protein kinase" NIMA (never in mitosis gene a)-related kinase 3 1998-08-26 2016-01-13 2016-10-05 4752 ENSG00000136098 OTTHUMG00000016958 uc032age.1 "AK290259|BC019916" NM_002498 CCDS73576 P51956 "8274451|7522034" MGI:1344371 RGD:1307419 604044 objectId:2118 2.7.11.1 HGNC:7746 "ENST00000610828.5|NM_002498.3" +HGNC:11399 NEK4 NIMA related kinase 4 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "NRK2|pp12301" serine/threonine protein kinase-2 STK2 "serine/threonine kinase 2|NIMA (never in mitosis gene a)-related kinase 4" 1995-05-10 2002-05-10 2016-01-13 2016-01-13 6787 ENSG00000114904 OTTHUMG00000158836 uc003dfq.5 L20321 NM_003157 "CCDS2863|CCDS87089|CCDS54593" P51957 8208544 MGI:1344404 RGD:1304995 601959 objectId:2119 2.7.11.1 HGNC:11399 "ENST00000233027.10|NM_003157.6" +HGNC:39649 NEK4P1 NIMA-related kinase 4 pseudogene 1 pseudogene pseudogene Approved 21q21.1 21q21.1 NIMA (never in mitosis gene a)-related kinase 4 pseudogene 1 2011-03-18 2012-11-15 2016-08-15 100421718 ENSG00000225735 OTTHUMG00000074393 NG_025027 PGOHUM00000297224 HGNC:39649 +HGNC:39650 NEK4P2 NIMA-related kinase 4 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 NIMA (never in mitosis gene a)-related kinase 4 pseudogene 2 2011-03-18 2012-11-15 2016-08-15 100421734 ENSG00000264359 OTTHUMG00000178961 NG_026146 PGOHUM00000293967 HGNC:39650 +HGNC:39651 NEK4P3 NIMA-related kinase 4 pseudogene 3 pseudogene pseudogene Approved 10q21.3 10q21.3 NIMA (never in mitosis gene a)-related kinase 4 pseudogene 3 2011-03-18 2012-11-15 2016-08-15 100421728 ENSG00000270754 OTTHUMG00000184645 NG_025511 PGOHUM00000290183 HGNC:39651 +HGNC:7748 NEK5 NIMA related kinase 5 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 NIMA (never in mitosis gene a)-related kinase 5 1998-09-01 2016-01-13 2016-10-05 341676 ENSG00000197168 OTTHUMG00000016957 uc001vge.4 BC063885 NM_199289 CCDS31979 Q6P3R8 9552363 MGI:2142824 RGD:1593817 616731 objectId:2120 HGNC:7748 "ENST00000684899.1|NM_001365552.1" +HGNC:7749 NEK6 NIMA related kinase 6 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 SID6-1512 putative serine-threonine protein kinase NIMA (never in mitosis gene a)-related kinase 6 1999-07-19 2016-01-13 2016-10-05 10783 ENSG00000119408 OTTHUMG00000020650 uc064vpi.1 AF087909 NM_014397 "CCDS55338|CCDS55339|CCDS48015|CCDS6854" Q9HC98 10702691 MGI:1891638 RGD:727779 604884 objectId:2121 HGNC:7749 "ENST00000320246.10|NM_014397.6" +HGNC:13386 NEK7 NIMA related kinase 7 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 NIMA (never in mitosis gene a)-related kinase 7 2001-12-19 2016-01-13 2016-01-13 140609 ENSG00000151414 OTTHUMG00000035658 uc001gun.5 AB062450 NM_133494 CCDS1394 Q8TDX7 11701951 MGI:1890645 RGD:1311160 606848 PGOHUM00000296006 objectId:2122 HGNC:13386 "ENST00000367385.9|NM_133494.3" +HGNC:13387 NEK8 NIMA related kinase 8 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 NPHP9 NIMA (never in mitosis gene a)- related kinase 8 2004-10-20 2016-01-13 2021-05-26 284086 ENSG00000160602 OTTHUMG00000179454 uc002hcp.4 AY267371 NM_178170 CCDS32597 Q86SG6 18199800 MGI:1890646 RGD:1306897 609799 209484 objectId:2123 HGNC:13387 "ENST00000268766.11|NM_178170.3" HGNC:13387 +HGNC:18591 NEK9 NIMA related kinase 9 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "Nek8|NERCC|DKFZp434D0935|MGC16714|NERCC1" NIMA (never in mitosis gene a)- related kinase 9 2002-05-08 2016-01-13 2021-05-26 91754 ENSG00000119638 OTTHUMG00000171768 uc001xrl.4 AY048580 NM_033116 CCDS9839 Q8TD19 11864968 MGI:2387995 RGD:1307187 609798 461239 objectId:2124 HGNC:18591 "ENST00000238616.10|NM_033116.6" HGNC:18591 +HGNC:18592 NEK10 NIMA related kinase 10 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 FLJ32685 NIMA (never in mitosis gene a)- related kinase 10 Armadillo like helical domain containing 1492 2002-05-08 2016-01-13 2016-01-13 152110 ENSG00000163491 OTTHUMG00000130571 uc062hqb.1 "AK123061|AK057247" NM_152534 "CCDS46781|CCDS77713" Q6ZWH5 15289607 MGI:2685128 RGD:1564342 618726 objectId:2115 HGNC:18592 "ENST00000691995.1|NM_001394966.1" HGNC:18592 +HGNC:18593 NEK11 NIMA related kinase 11 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 FLJ23495 NIMA (never in mitosis gene a)- related kinase 11 2002-05-08 2016-01-13 2016-01-13 79858 ENSG00000114670 OTTHUMG00000159654 uc003eny.4 AK027148 NM_024800 "CCDS82836|CCDS3069|CCDS82837|CCDS46915|CCDS54639" Q8NG66 MGI:2442276 RGD:1308801 609779 objectId:2116 HGNC:18593 "ENST00000383366.9|NM_024800.5" +HGNC:12768 NELFA negative elongation factor complex member A protein-coding gene gene with protein product Approved 4p16.3 04p16.3 NELF-A WHSC2 Wolf-Hirschhorn syndrome candidate 2 "MicroRNA protein coding host genes|Negative elongation factor complex members" "1691|1944" 1998-07-24 2013-01-31 2013-01-31 2015-08-25 7469 ENSG00000185049 OTTHUMG00000089967 uc003gem.4 AF101434 NM_005663 CCDS3358 Q9H3P2 10409432 MGI:1346098 RGD:1305556 606026 120525 HGNC:12768 "ENST00000382882.9|NM_005663.5" +HGNC:24324 NELFB negative elongation factor complex member B protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "KIAA1182|NELF-B" COBRA1 cofactor of BRCA1 Negative elongation factor complex members 1944 2008-02-21 2013-01-31 2013-01-31 2016-10-05 25920 ENSG00000188986 OTTHUMG00000131778 uc284qzh.1 AF464935 NM_015456 CCDS7040 Q8WX92 "11230166|10574461|17910036|17659869" MGI:1931035 RGD:1307832 611180 HGNC:24324 "ENST00000343053.6|NM_015456.5" +HGNC:15934 NELFCD negative elongation factor complex member C/D protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "HSPC130|TH1|NELF-C|NELF-D" trihydrophobin 1 TH1L "TH1-like (Drosophila homolog)|TH1-like (Drosophila)" "Armadillo like helical domain containing|Negative elongation factor complex members" "1492|1944" 2001-07-31 2013-01-31 2013-01-31 2016-10-05 51497 ENSG00000101158 OTTHUMG00000032861 uc002yag.4 AF161479 NM_198976 CCDS13473 Q8IXH7 "11030415|11042152" MGI:1926424 RGD:1590753 605297 HGNC:15934 "ENST00000652272.2|NM_198976.4" +HGNC:13974 NELFE negative elongation factor complex member E protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "RD|D6S45|NELF-E|RDP" RDBP "RD RNA-binding protein|RD RNA binding protein" "RNA binding motif containing|MicroRNA protein coding host genes|Negative elongation factor complex members" "725|1691|1944" 2002-11-18 2013-01-31 2013-01-31 2016-10-05 7936 ENSG00000204356 OTTHUMG00000031046 uc003nyk.4 M33230 NM_002904 CCDS4730 P18615 MGI:102744 RGD:1303325 154040 HGNC:13974 "ENST00000375429.8|NM_002904.6" +HGNC:7750 NELL1 neural EGFL like 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "IDH3GL|FLJ45906" "nel (chicken)-like 1|NEL-like 1 (chicken)" 1996-07-17 2015-06-19 2015-08-25 4745 ENSG00000165973 OTTHUMG00000166042 uc001mqe.5 AK127805 NM_006157 "CCDS7855|CCDS73267|CCDS73268|CCDS44555" Q92832 "8975702|24563467" MGI:2443902 RGD:620998 602319 HGNC:7750 "ENST00000357134.10|NM_006157.5" +HGNC:7751 NELL2 neural EGFL like 2 protein-coding gene gene with protein product Approved 12q12 12q12 NRP2 "nel (chicken)-like 2|NEL-like 2 (chicken)" 1996-07-17 2015-06-19 2015-06-19 4753 ENSG00000184613 OTTHUMG00000169464 uc001rog.3 D83018 NM_006159 "CCDS53781|CCDS8746|CCDS44863|CCDS44864" Q99435 "8975702|25537860" MGI:1858510 RGD:620999 602320 HGNC:7751 "ENST00000429094.7|NM_001145108.2" +HGNC:10663 NEMF nuclear export mediator factor protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "NY-CO-1|FLJ10051" caliban homolog (Drosophila) SDCCAG1 serologically defined colon cancer antigen 1 1999-02-09 2011-01-31 2011-01-31 2020-12-04 9147 ENSG00000165525 OTTHUMG00000170857 uc001wxc.4 AF039687 NM_004713 CCDS9694 O60524 "9610721|10575219" MGI:1918305 RGD:2315525 608378 HGNC:10663 "ENST00000298310.10|NM_004713.6" HGNC:10663 +HGNC:29001 NEMP1 nuclear envelope integral membrane protein 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 KIAA0286 "TMEM194|TMEM194A" "transmembrane protein 194|transmembrane protein 194A" 2007-11-15 2015-05-27 2015-05-27 2016-11-16 23306 ENSG00000166881 OTTHUMG00000171021 AB006624 NM_015257 "CCDS44927|CCDS31841" O14524 25946333 MGI:2446113 RGD:1587179 616496 HGNC:29001 "ENST00000300128.9|NM_001130963.2" +HGNC:33700 NEMP2 nuclear envelope integral membrane protein 2 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 TMEM194B transmembrane protein 194B 2007-11-15 2015-05-27 2015-05-27 2018-11-16 100131211 ENSG00000189362 OTTHUMG00000154454 NM_001142645 CCDS46476 A6NFY4 25946333 MGI:2444113 RGD:1560421 616497 HGNC:33700 "ENST00000409150.8|NM_001142645.2" +HGNC:55713 NEMP2-DT NEMP2 divergent transcript non-coding RNA RNA, long non-coding Approved 2q32.2 02q32.2 Divergent transcripts 1990 2021-07-12 2021-07-12 105376748 ENSG00000233654 XR_001739154 +HGNC:30384 NENF neudesin neurotrophic factor protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "CIR2|SCIRP10|SPUF" neudesin neuron derived neurotrophic factor Membrane associated progesterone receptor family 1282 2005-07-26 2011-07-05 2014-11-18 29937 ENSG00000117691 OTTHUMG00000036744 uc001hjd.3 NM_013349 CCDS1505 Q9UMX5 "9771976|15605373" MGI:1913458 RGD:1303289 611874 HGNC:30384 "ENST00000366988.5|NM_013349.5" +HGNC:50298 NENFP1 neudesin neurotrophic factor pseudogene 1 pseudogene pseudogene Approved 1p33 01p33 2014-04-04 2014-04-04 106480294 ENSG00000233647 OTTHUMG00000007990 NG_045764 PGOHUM00000244005 HGNC:50298 +HGNC:50299 NENFP2 neudesin neurotrophic factor pseudogene 2 pseudogene pseudogene Approved 12q23.2 12q23.2 2014-04-04 2017-03-22 100129880 ENSG00000258288 OTTHUMG00000170476 NG_009383 PGOHUM00000291785 HGNC:50299 +HGNC:50300 NENFP3 neudesin neurotrophic factor pseudogene 3 pseudogene pseudogene Approved 5p15.2 05p15.2 2014-04-04 2014-04-04 106481703 ENSG00000248462 OTTHUMG00000161748 NG_043236 PGOHUM00000235124 HGNC:50300 +HGNC:7754 NEO1 neogenin 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "NGN|HsT17534|IGDCC2|NTN1R2" immunoglobulin superfamily, DCC subclass, member 2 neogenin (chicken) homolog 1 "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1996-10-26 2010-06-24 2016-10-05 4756 ENSG00000067141 OTTHUMG00000133509 uc059ldp.1 U61262 NM_002499 "CCDS58378|CCDS10247|CCDS53957" Q92859 9121761 MGI:1097159 RGD:619837 601907 HGNC:7754 "ENST00000261908.11|NM_002499.4" +HGNC:33184 NEPNP nephrocan, pseudogene pseudogene pseudogene Approved 6q22.1 06q22.1 "NPN|NEPN" 2010-03-12 2020-08-14 442253 ENSG00000218233 OTTHUMG00000015456 NG_008306 20210993 MGI:1913900 HGNC:33184 +HGNC:24496 NEPRO nucleolus and neural progenitor protein protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "DKFZP434F2021|NET17" C3orf17 chromosome 3 open reading frame 17 2005-01-10 2016-05-17 2016-05-17 2019-07-12 25871 ENSG00000163608 OTTHUMG00000159286 uc003dzr.4 AL117573 NM_015412 "CCDS33824|CCDS82820" Q6NW34 "19906856|31250547" MGI:2384836 RGD:1311458 617089 HGNC:24496 "ENST00000314400.10|NM_015412.4" HGNC:24496 +HGNC:41049 NEPRO-AS1 NEPRO antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 Antisense RNAs 1987 2021-06-25 2021-06-25 107986114 ENSG00000240057 OTTHUMG00000159327 +HGNC:7756 NES nestin protein-coding gene gene with protein product Approved 1q23.1 01q23.1 FLJ21841 Intermediate filaments Type IV 611 1999-01-22 2016-10-05 10763 ENSG00000132688 OTTHUMG00000034299 uc001fpq.4 X65964 NM_006617 CCDS1151 P48681 "1478958|9104587" MGI:101784 RGD:3162 600915 HGNC:7756 HGNC:7756 "ENST00000368223.4|NM_006617.2" +HGNC:14592 NET1 neuroepithelial cell transforming 1 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "ARHGEF8|NET1A" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2001-02-08 2008-09-12 2016-10-05 10276 ENSG00000173848 OTTHUMG00000017596 uc001iib.5 AJ010046 NM_005863 "CCDS41483|CCDS7067" Q7Z628 8649828 MGI:1927138 RGD:1305034 606450 HGNC:14592 "ENST00000355029.9|NM_001047160.3" +HGNC:13823 NETO1 neuropilin and tolloid like 1 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "BTCL1|BCTL1" neuropilin (NRP) and tolloid (TLL)-like 1 MicroRNA protein coding host genes 1691 2001-04-05 2015-12-01 2016-10-05 81832 ENSG00000166342 OTTHUMG00000132834 uc002lkw.3 AF448838 NM_138999 "CCDS12000|CCDS42444" Q8TDF5 "11943477|12810072" MGI:2180216 RGD:1566269 607973 HGNC:13823 "ENST00000327305.11|NM_138966.5" +HGNC:55333 NETO1-DT NETO1 divergent transcript non-coding RNA RNA, long non-coding Approved 18q22.3 18q22.3 Divergent transcripts 1990 2020-10-21 2020-10-21 100505797 ENSG00000263958 NR_134647 +HGNC:14644 NETO2 neuropilin and tolloid like 2 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "FLJ10430|NEOT2" neuropilin (NRP) and tolloid (TLL)-like 2 2001-04-05 2015-12-01 2016-10-05 81831 ENSG00000171208 OTTHUMG00000133101 uc002eer.3 AK001292 NM_018092 "CCDS58460|CCDS10727" Q8NC67 11943477 MGI:1921763 RGD:1305310 607974 HGNC:14644 "ENST00000562435.6|NM_018092.5" +HGNC:7758 NEU1 neuraminidase 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 sialidase-1 NEU "sialidase 1 (lysosomal sialidase)|neuraminidase 1 (lysosomal sialidase)" Neuraminidases 1649 2001-06-22 2016-07-01 2021-11-19 4758 ENSG00000204386 OTTHUMG00000031284 uc011ise.3 AF040958 NM_000434 CCDS4723 Q99519 9054950 MGI:97305 RGD:3163 608272 123759 3.2.1.18 HGNC:7758 "ENST00000375631.5|NM_000434.4" HGNC:7758 +HGNC:7759 NEU2 neuraminidase 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 SIAL2 N-acetyl-alpha-neuraminidase 2 "sialidase 2 (cytosolic sialidase)|neuraminidase 2 (cytosolic sialidase)" Neuraminidases 1649 1998-02-26 2016-07-01 2016-10-05 4759 ENSG00000115488 OTTHUMG00000133274 uc010zmn.2 Y16535 NM_005383 CCDS2501 Q9Y3R4 "10191093|14613940" MGI:1344417 RGD:3164 605528 3.2.1.18 HGNC:7759 "ENST00000233840.3|NM_005383.2" +HGNC:7760 NEU3 neuraminidase 3 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "sialidase 3 (membrane sialidase)|neuraminidase 3, membrane sialidase" Neuraminidases 1649 1999-08-12 2016-07-01 2019-08-21 10825 ENSG00000162139 OTTHUMG00000165518 uc001ovw.4 AB008185 NM_006656 CCDS44682 Q9UQ49 10405317 MGI:1355305 RGD:619881 604617 3.2.1.18 HGNC:7760 "ENST00000294064.9|NM_006656.6" +HGNC:21328 NEU4 neuraminidase 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "sialidase 4|neuraminidase 4 (sialidase)" Neuraminidases 1649 2003-09-16 2016-07-01 2016-07-01 129807 ENSG00000204099 OTTHUMG00000133412 uc032oxr.2 BC012899 NM_080741 "CCDS54442|CCDS2553|CCDS54441" Q8WWR8 MGI:2661364 RGD:1308624 608527 3.2.1.18 HGNC:21328 "ENST00000407683.6|NM_001167600.3" +HGNC:7761 NEURL1 neuralized E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 "h-neu|RNF67|neu-1" NEURL "neuralized (Drosophila)-like|neuralized-like (Drosophila)|neuralized homolog (Drosophila)" Ring finger proteins 58 1999-02-09 2013-10-24 2013-10-24 2016-10-05 9148 ENSG00000107954 OTTHUMG00000018995 U87864 NM_004210 CCDS7551 O76050 "9519875|20847082" MGI:1334263 RGD:1307021 603804 HGNC:7761 "ENST00000369780.9|NM_004210.5" +HGNC:51220 NEURL1-AS1 NEURL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.33 10q24.33 Antisense RNAs 1987 2014-08-08 2014-08-08 102724341 ENSG00000235470 OTTHUMG00000018993 AA399019 NR_120675 NEURL1-AS1 HGNC:51220 +HGNC:35422 NEURL1B neuralized E3 ubiquitin protein ligase 1B protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "DKFZP761M1511|Neur2|RNF67B" neuralized homolog 1B (Drosophila) "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2009-01-15 2013-10-24 2017-12-15 54492 ENSG00000214357 OTTHUMG00000163281 uc003mbt.4 NM_001142651 "CCDS78085|CCDS83042|CCDS47342" A8MQ27 17003037 MGI:3643092 RGD:1564984 615893 HGNC:35422 "ENST00000369800.6|NM_001142651.3" +HGNC:16156 NEURL2 neuralized E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ337O18.6|FLJ30259|Ozz|Ozz-E3" C20orf163 "chromosome 20 open reading frame 163|neuralized-like 2 (Drosophila)|neuralized homolog 2 (Drosophila)" 2001-07-17 2004-02-27 2013-10-24 2015-08-25 140825 ENSG00000124257 OTTHUMG00000032626 uc002xqg.3 AL008726 NM_001278535 CCDS13384 Q9BR09 "12076535|19723503" MGI:3043305 RGD:1306409 608597 HGNC:16156 "ENST00000372518.5|NM_080749.4" +HGNC:25162 NEURL3 neuralized E3 ubiquitin protein ligase 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "Lincr|LOC93082|RNF132" neuralized homolog 3 (Drosophila) pseudogene Ring finger proteins 58 2009-01-12 2013-10-24 2017-12-15 93082 ENSG00000163121 OTTHUMG00000128645 uc010yup.3 NM_138397 "CCDS74541|CCDS74542" Q96EH8 15936721 MGI:2429944 RGD:1359633 617206 HGNC:25162 "ENST00000451794.6|NM_001285485.2" +HGNC:34410 NEURL4 neuralized E3 ubiquitin protein ligase 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KIAA1787 neuralized homolog 4 (Drosophila) 2009-01-15 2013-10-24 2016-10-05 84461 ENSG00000215041 OTTHUMG00000132319 uc002gga.2 NM_032442 "CCDS42252|CCDS42251" Q96JN8 "22261722|22441691" MGI:1921092 RGD:1308056 615865 HGNC:34410 "ENST00000399464.7|NM_032442.3" +HGNC:7762 NEUROD1 neuronal differentiation 1 protein-coding gene gene with protein product Approved 2q31.3 02q31.3 "BETA2|BHF-1|NeuroD|bHLHa3|MODY6" "beta-cell E-box transactivator 2|neurogenic helix-loop-helix protein NEUROD" NEUROD neurogenic differentiation 1 Basic helix-loop-helix proteins 420 1996-03-12 2012-02-22 2021-05-26 4760 ENSG00000162992 OTTHUMG00000132583 uc002uof.5 U50823 NM_002500 CCDS2283 Q13562 "7754368|8786144" MGI:1339708 RGD:3165 LRG_1119|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1119.xml 601724 123762 HGNC:7762 "ENST00000295108.4|NM_002500.5" HGNC:7762 +HGNC:7763 NEUROD2 neuronal differentiation 2 protein-coding gene gene with protein product Approved 17q12 17q12 "NDRF|bHLHa1" NeuroD-related factor neurogenic differentiation 2 Basic helix-loop-helix proteins 420 1997-04-10 2012-02-22 2021-12-07 4761 ENSG00000171532 OTTHUMG00000133211 uc002hry.4 U58681 NM_006160 CCDS11338 Q15784 9119405 MGI:107755 RGD:3166 601725 HGNC:7763 "ENST00000302584.5|NM_006160.4" HGNC:7763 +HGNC:13802 NEUROD4 neuronal differentiation 4 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "Atoh3|ATH-3|MATH-3|bHLHa4" neurogenic differentiation 4 Basic helix-loop-helix proteins 420 2000-11-28 2012-02-22 2019-04-16 58158 ENSG00000123307 OTTHUMG00000169826 uc001sgp.5 AF203901 NM_021191 CCDS8886 Q9HD90 MGI:108055 RGD:1310434 611635 HGNC:13802 "ENST00000242994.4|NM_021191.3" +HGNC:13804 NEUROD6 neuronal differentiation 6 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "Atoh2|NEX1M|Math-2|bHLHa2|Nex1" neurogenic differentiation 6 Basic helix-loop-helix proteins 420 2000-11-28 2012-02-22 2016-10-05 63974 ENSG00000164600 OTTHUMG00000022865 uc003tch.5 AF248954 NM_022728 CCDS5434 Q96NK8 12357074 MGI:106593 RGD:1562793 611513 HGNC:13804 "ENST00000297142.4|NM_022728.4" +HGNC:7764 NEUROG1 neurogenin 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "AKA|Math4C|ngn1|bHLHa6" neurogenic differentiation 3 NEUROD3 Basic helix-loop-helix proteins 420 1997-04-10 2016-10-05 4762 ENSG00000181965 OTTHUMG00000129138 uc003lax.3 U63842 NM_006161 CCDS4187 Q92886 9119405 MGI:107754 RGD:3167 601726 HGNC:7764 "ENST00000314744.6|NM_006161.3" +HGNC:13805 NEUROG2 neurogenin 2 protein-coding gene gene with protein product Approved 4q25 04q25 "Atoh4|Math4A|ngn-2|bHLHa8|NGN2" Basic helix-loop-helix proteins 420 2000-11-28 2014-11-19 63973 ENSG00000178403 OTTHUMG00000132907 uc003ias.3 AF303002 NM_024019 CCDS3698 Q9H2A3 MGI:109619 RGD:1309061 606624 HGNC:13805 "ENST00000313341.4|NM_024019.4" +HGNC:40656 NEUROG2-AS1 NEUROG2 and ZGRF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q25 04q25 Antisense RNAs 1987 2019-08-16 2019-08-16 105377372 ENSG00000249509 OTTHUMG00000161132 NR_161159 HGNC:40656 +HGNC:13806 NEUROG3 neurogenin 3 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "Atoh5|Math4B|ngn3|bHLHa7" Basic helix-loop-helix proteins 420 2000-11-28 2016-10-05 50674 ENSG00000122859 OTTHUMG00000018391 uc001jpp.4 AJ133776 NM_020999 CCDS31212 Q9Y4Z2 "9000438|10677506" MGI:893591 RGD:631350 604882 123767 HGNC:13806 "ENST00000242462.5|NM_020999.4" HGNC:13806 +HGNC:29433 NEXMIF neurite extension and migration factor protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "XPN|MRX98|KIDLIA" XLMR-related protein, neurite extension KIAA2022 KIAA2022 2007-03-26 2017-05-25 2017-05-25 2021-05-26 340533 ENSG00000050030 OTTHUMG00000021860 uc004eby.4 NM_001008537 CCDS35337 Q5QGS0 "15466006|23615299|27822498" MGI:2148050 RGD:1561931 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/KIAA2022 300524 122838 HGNC:29433 "ENST00000055682.12|NM_001008537.3" HGNC:29433 +HGNC:29557 NEXN nexilin F-actin binding protein protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "nexilin|NELIN" nexilin (F actin binding protein) I-set domain containing 593 2004-01-09 2016-03-30 2021-05-26 91624 ENSG00000162614 OTTHUMG00000040533 uc001dic.5 AK057954 NM_144573 "CCDS53335|CCDS41351" Q0ZGT2 "12053183|8227983" MGI:1916060 RGD:708354 LRG_442|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_442.xml 613121 225306 HGNC:29557 "ENST00000334785.12|NM_144573.4" HGNC:29557 +HGNC:31983 NEXN-AS1 NEXN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 FLJ90637 C1orf118 "chromosome 1 open reading frame 118|NEXN antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-06-16 2011-08-30 2012-08-15 2016-12-21 374987 ENSG00000235927 OTTHUMG00000040531 uc031uek.1 AK075118 NR_103535 Q8NBZ9 27713484 618370 NEXN-AS1 HGNC:31983 +HGNC:7765 NF1 neurofibromin 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "neurofibromatosis|von Recklinghausen disease|Watson disease" Armadillo like helical domain containing 1492 1986-01-01 2008-07-31 2021-05-26 4763 ENSG00000196712 OTTHUMG00000132871 uc002hgh.3 NM_000267 "CCDS45645|CCDS11264|CCDS42292" P21359 1715669 MGI:97306 RGD:3168 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NF1|LRG_214|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_214.xml" NF1 613113 123772 HGNC:7765 "ENST00000358273.9|NM_001042492.3" HGNC:7765 +HGNC:7772 NF1P1 neurofibromin 1 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 NF1HHS Albright osteodystrophy 1992-04-06 2008-07-31 2015-05-18 100419006 ENSG00000270831 OTTHUMG00000184188 U35691 NG_025283 "1505963|8264676|8825634" PGOHUM00000292802 HGNC:7772 +HGNC:38664 NF1P2 neurofibromin 1 pseudogene 2 pseudogene pseudogene Approved 15q11.2 15q11.2 2010-07-07 2015-05-18 440225 ENSG00000258997 OTTHUMG00000171730 M84131 NR_028506 PGOHUM00000292824 HGNC:38664 +HGNC:7766 NF1P3 neurofibromin 1 pseudogene 3 pseudogene pseudogene Approved 21q11.2 21q11.2 NF1L1 "neurofibromin 1-like 1|neurofibromin 1-like 1 (pseudogene)" 1993-11-05 2010-10-21 2010-10-21 2015-05-18 4764 ENSG00000183249 OTTHUMG00000074232 D26141 NG_009867 "7926815|10830953" PGOHUM00000297347 HGNC:7766 +HGNC:7769 NF1P4 neurofibromin 1 pseudogene 4 pseudogene pseudogene Approved 14q11.2 14q11.2 NF1L4 neurofibromin 1-like 4 1995-07-14 2010-10-21 2010-10-21 2015-05-18 100419029 ENSG00000258027 OTTHUMG00000170544 U35690 NG_007891 8825634 PGOHUM00000292555 HGNC:7769 +HGNC:7770 NF1P5 neurofibromin 1 pseudogene 5 pseudogene pseudogene Approved 18p11.21 18p11.21 NF1L5 neurofibromin 1-like 5 1995-07-14 2010-10-21 2010-10-21 2015-05-18 4768 ENSG00000175319 OTTHUMG00000182061 "U35689|U35688" NG_007889 8825634 PGOHUM00000294600 HGNC:7770 +HGNC:7771 NF1P6 neurofibromin 1 pseudogene 6 pseudogene pseudogene Approved 22q11.1 22q11.1 Em:AP000532.C22.1 NF1L6 neurofibromin 1-like 6 1995-07-14 2010-10-21 2010-10-21 2015-05-18 644637 ENSG00000224435 OTTHUMG00000140337 U35692 NG_007890 8825634 PGOHUM00000297418 HGNC:7771 +HGNC:34230 NF1P7 neurofibromin 1 pseudogene 7 pseudogene pseudogene Approved 14q11.2 14q11.2 NF1L7 neurofibromin 1-like 7 2008-05-29 2010-10-21 2010-10-21 2015-05-18 100158257 ENSG00000278143 OTTHUMG00000170303 NG_007892 PGOHUM00000292263 HGNC:34230 +HGNC:7767 NF1P8 neurofibromin 1 pseudogene 8 pseudogene pseudogene Approved 2q21.1 02q21.1 NF1L2 neurofibromin 1-like 2 1995-07-14 2010-10-21 2010-10-21 2016-10-05 401007 ENSG00000236956 OTTHUMG00000153537 U35697 NG_007888 8825634 PGOHUM00000298123 HGNC:7767 +HGNC:51736 NF1P9 neurofibromin 1 pseudogene 9 pseudogene pseudogene Approved 15q11.2 15q11.2 2015-05-18 2015-05-18 101930150 ENSG00000281347 OTTHUMG00000190195 PGOHUM00000292813 HGNC:51736 +HGNC:51737 NF1P10 neurofibromin 1 pseudogene 10 pseudogene pseudogene Approved 14q11.2 14q11.2 2015-05-18 2015-05-18 106480348 ENSG00000277529 OTTHUMG00000188378 NG_045928 PGOHUM00000306529 HGNC:51737 +HGNC:51738 NF1P11 neurofibromin 1 pseudogene 11 pseudogene pseudogene Approved 14q11.2 14q11.2 2015-05-18 2015-05-18 106481736 ENSG00000278184 OTTHUMG00000188370 NG_045475 PGOHUM00000292558 HGNC:51738 +HGNC:51739 NF1P12 neurofibromin 1 pseudogene 12 pseudogene pseudogene Approved 12q12 12q12 2015-05-18 2015-05-18 100418983 ENSG00000258360 OTTHUMG00000169416 NG_023997 PGOHUM00000291297 HGNC:51739 +HGNC:7773 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "merlin|ACN|SCH|BANF|merlin-1" "moesin-ezrin-radixin like|schwannomin|bilateral acoustic neurofibromatosis" "neurofibromin 2 (bilateral acoustic neuroma)|neurofibromin 2 (merlin)" "A-kinase anchoring proteins|FERM domain containing" "396|1293" 1992-01-01 2021-10-07 2021-10-07 4771 ENSG00000186575 OTTHUMG00000030727 uc003age.5 L11353 NM_000268 "CCDS54516|CCDS13863|CCDS13864|CCDS13865|CCDS13862|CCDS13861" P35240 10591208 MGI:97307 RGD:3169 "Neurofibromatosis 2 (NF2) mutation database|http://www.hgmd.cf.ac.uk/nf2/|LRG_511|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_511.xml" NF2 607379 123774 HGNC:7773 "ENST00000338641.10|NM_000268.4" HGNC:7773 +HGNC:29872 NFAM1 NFAT activating protein with ITAM motif 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 CNAIP 2005-02-01 2014-11-19 150372 ENSG00000235568 OTTHUMG00000150923 uc003bcn.5 BC038241 NM_145912 CCDS14034 Q8NET5 12615919 MGI:1921289 RGD:1308316 608740 HGNC:29872 "ENST00000329021.10|NM_145912.8" +HGNC:29866 NFASC neurofascin protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "NRCAML|KIAA0756|FLJ46866|NF" neurofascin homolog (chicken) "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2005-11-22 2010-06-24 2014-11-19 23114 ENSG00000163531 OTTHUMG00000151697 uc001hbi.4 AK027553 NM_001005388 "CCDS30982|CCDS53461|CCDS53462|CCDS53460" O94856 "1377696|8672144" MGI:104753 RGD:620911 609145 HGNC:29866 "ENST00000339876.11|NM_001005388.3" HGNC:29866 +HGNC:7774 NFAT5 nuclear factor of activated T cells 5 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "TONEBP|KIAA0827|NFATL1|OREBP|NFATZ|NF-AT5" tonicity-responsive enhancer binding protein "nuclear factor of activated T-cells 5, tonicity-responsive|nuclear factor of activated T-cells 5" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1999-07-16 2017-12-06 2021-04-13 10725 ENSG00000102908 OTTHUMG00000137572 uc002exl.3 AF134870 NM_138714 "CCDS45519|CCDS10881|CCDS45518" O94916 10377394 MGI:1859333 RGD:1309142 LRG_1332|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1332.xml 604708 470770 HGNC:7774 "ENST00000349945.7|NM_138713.4" +HGNC:7775 NFATC1 nuclear factor of activated T cells 1 protein-coding gene gene with protein product Approved 18q23 18q23 "NF-ATC|NFATc|NFAT2" "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1|nuclear factor of activated T-cells 1" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1994-11-16 2017-12-06 2021-05-26 4772 ENSG00000131196 OTTHUMG00000132897 uc002lnd.4 U08015 NM_172390 "CCDS59327|CCDS62467|CCDS62468|CCDS62469|CCDS62470|CCDS59326|CCDS12015|CCDS12016|CCDS32850|CCDS62471" O95644 8202141 MGI:102469 RGD:2319357 600489 470772 HGNC:7775 "ENST00000427363.7|NM_001278669.2" +HGNC:7776 NFATC2 nuclear factor of activated T cells 2 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "NF-ATP|NFATp|NFAT1" "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2|nuclear factor of activated T-cells 2" "Nuclear factors of activated T-cells |MicroRNA protein coding host genes|IPT domain containing" "665|1691|1752" 1994-11-16 2017-12-06 2017-12-06 4773 ENSG00000101096 OTTHUMG00000032747 uc002xwd.4 "U43342|U43341" NM_012340 "CCDS46614|CCDS33488|CCDS13437|CCDS68156|CCDS68157" Q13469 8202141 MGI:102463 RGD:1307690 NFATC2 600490 HGNC:7776 "ENST00000371564.8|NM_012340.5" +HGNC:25906 NFATC2IP nuclear factor of activated T cells 2 interacting protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ14639|NIP45|RAD60|ESC2" "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein|nuclear factor of activated T-cells 2 interacting protein" MicroRNA protein coding host genes 1691 2005-01-11 2017-12-06 2017-12-06 84901 ENSG00000176953 OTTHUMG00000097763 uc002dru.4 AK074761 NM_032815 CCDS10645 Q8NCF5 15698469 MGI:1329015 RGD:1359096 614525 HGNC:25906 "ENST00000320805.9|NM_032815.4" +HGNC:56085 NFATC2IP-AS1 NFATC2IP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Antisense RNAs 1987 2021-12-20 2021-12-20 123706545 ENSG00000260853 +HGNC:7777 NFATC3 nuclear factor of activated T cells 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "NFAT4|NFATX" "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3|nuclear factor of activated T-cells 3" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1994-11-16 2017-12-06 2017-12-06 4775 ENSG00000072736 OTTHUMG00000137555 uc002evo.3 L41067 NM_004555 "CCDS10862|CCDS10861|CCDS10860" Q12968 7749981 MGI:103296 RGD:1308692 602698 HGNC:7777 "ENST00000346183.8|NM_173165.3" +HGNC:7778 NFATC4 nuclear factor of activated T cells 4 protein-coding gene gene with protein product Approved 14q12 14q12 NFAT3 "nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4|nuclear factor of activated T-cells 4" "Nuclear factors of activated T-cells |IPT domain containing" "665|1752" 1994-11-16 2017-12-06 2017-12-06 4776 ENSG00000100968 OTTHUMG00000029351 uc001wpc.5 BC053855 NM_004554 "CCDS55909|CCDS86380|CCDS86379|CCDS45089|CCDS55910|CCDS55911|CCDS9629|CCDS73625" Q14934 7749981 MGI:1920431 RGD:1310749 602699 HGNC:7778 "ENST00000250373.9|NM_004554.5" +HGNC:7780 NFE2 nuclear factor, erythroid 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 NF-E2 "nuclear factor (erythroid-derived 2), 45kD|nuclear factor (erythroid-derived 2), 45kDa" Basic leucine zipper proteins 506 1993-11-03 2013-08-23 2020-04-01 4778 ENSG00000123405 OTTHUMG00000169761 uc001sfr.6 BC005044 NM_006163 CCDS8876 Q16621 8355703 MGI:97308 RGD:1306888 601490 470774 HGNC:7780 "ENST00000435572.7|NM_001136023.3" +HGNC:7781 NFE2L1 NFE2 like bZIP transcription factor 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "NRF1|LCR-F1|FLJ00380|NRF-1" "nuclear factor erythroid 2-related factor 1|locus control region-factor 1|transcription factor 11" TCF11 "nuclear factor (erythroid-derived 2)-like 1|nuclear factor, erythroid 2-like 1|NF-E2-related factor 1|nuclear factor, erythroid 2 like 1" Basic leucine zipper proteins 506 1994-03-24 2021-09-30 2021-09-30 4779 ENSG00000082641 OTTHUMG00000178706 uc002imz.5 AK090459 NM_003204 "CCDS82151|CCDS82150|CCDS11524" Q14494 "8248256|9501099|26947393" MGI:99421 RGD:1311972 163260 HGNC:7781 "ENST00000362042.8|NM_003204.3" +HGNC:54812 NFE2L1-DT NFE2L1 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Divergent transcripts 1990 2020-01-17 2020-07-16 116435298 ENSG00000263412 NR_170231 32079618 +HGNC:7782 NFE2L2 NFE2 like bZIP transcription factor 2 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "NRF2|NRF-2" NF-E2-related factor 2 "nuclear factor (erythroid-derived 2)-like 2|nuclear factor, erythroid 2-like 2|nuclear factor, erythroid 2 like 2" "Basic leucine zipper proteins|MicroRNA protein coding host genes" "506|1691" 1994-03-24 2021-09-30 2021-09-30 4780 ENSG00000116044 OTTHUMG00000133620 uc061qac.1 NM_006164 "CCDS46457|CCDS46458|CCDS42782" Q16236 7937919 MGI:108420 RGD:620360 NFE2L2 600492 objectId:3057 HGNC:7782 "ENST00000397062.8|NM_006164.5" HGNC:7782 +HGNC:7783 NFE2L3 NFE2 like bZIP transcription factor 3 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 Nrf3 "nuclear factor (erythroid-derived 2)-like 3|nuclear factor, erythroid 2-like 3|nuclear factor, erythroid 2 like 3" Basic leucine zipper proteins 506 1999-06-03 2021-09-30 2021-09-30 9603 ENSG00000050344 OTTHUMG00000023882 uc003sxq.4 AB010812 NM_004289 CCDS5396 Q9Y4A8 "10037736|21687990" MGI:1339958 RGD:1307730 604135 HGNC:7783 "ENST00000056233.4|NM_004289.7" +HGNC:22278 NFE2L3P1 nuclear factor, erythroid 2 like 3 pseudogene 1 pseudogene pseudogene Approved 18q21.32 18q21.32 "nuclear factor (erythroid-derived 2)-like 3 pseudogene 1|nuclear factor, erythroid 2-like 3 pseudogene 1" 2010-09-30 2015-11-18 2016-11-09 642996 ENSG00000267497 OTTHUMG00000179951 NG_011711 PGOHUM00000294802 HGNC:22278 +HGNC:44191 NFE2L3P2 nuclear factor, erythroid 2 like 3 pseudogene 2 pseudogene pseudogene Approved 17q21.32 17q21.32 "nuclear factor (erythroid-derived 2)-like 3 pseudogene 2|nuclear factor, erythroid 2-like 3 pseudogene 2" 2012-06-30 2015-11-18 2015-11-18 100272146 NG_029197 PGOHUM00000237425 HGNC:44191 +HGNC:29902 NFE4 nuclear factor, erythroid 4 other unknown Approved 7q22.1 07q22.1 NF-E4 2013-08-23 2020-06-18 58160 ENSG00000230257 OTTHUMG00000157208 NR_166510 CCDS87533 Q86UQ8 11003662 612133 HGNC:29902 +HGNC:7784 NFIA nuclear factor I A protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "NFI-L|KIAA1439" nuclear factor I/A Nuclear factor I family 1985 1995-03-09 2016-04-06 2021-05-26 4774 ENSG00000162599 OTTHUMG00000008618 uc001czw.4 U07809 NM_005595 "CCDS44156|CCDS53322|CCDS615|CCDS53321" Q12857 7590749 MGI:108056 RGD:3170 600727 409843 HGNC:7784 "ENST00000403491.8|NM_001134673.4" HGNC:7784 +HGNC:40402 NFIA-AS1 NFIA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 RP5-833A20.1 Antisense RNAs 1987 2014-05-21 2016-12-16 645030 ENSG00000237853 OTTHUMG00000040631 NR_104180 "25265644|27779670" NFIA-AS1 HGNC:40402 +HGNC:40401 NFIA-AS2 NFIA antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Antisense RNAs 1987 2014-05-21 2014-11-19 100996570 ENSG00000237928 OTTHUMG00000008421 NR_110617 NFIA-AS2 HGNC:40401 +HGNC:7785 NFIB nuclear factor I B protein-coding gene gene with protein product Approved 9p23-p22.3 09p23-p22.3 "NFI-RED|NFIB2|NFIB3" nuclear factor I/B Nuclear factor I family 1985 1995-03-09 2016-04-06 2021-05-26 4781 ENSG00000147862 OTTHUMG00000021027 uc003zle.4 U07810 NM_005596 "CCDS55292|CCDS55291|CCDS6474|CCDS65007" O00712 7590749 MGI:103188 RGD:62015 NFIB 600728 470776 HGNC:7785 "ENST00000380953.6|NM_001190737.2" HGNC:7785 +HGNC:56058 NFIB-AS1 NFIB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p22.3 09p22.3 Antisense RNAs 1987 2021-12-09 2021-12-09 123706550 ENSG00000225472 XR_007061418 +HGNC:7786 NFIC nuclear factor I C protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CTF|NF-I|CTF5" CCAAT-binding transcription factor NFI nuclear factor I/C (CCAAT-binding transcription factor) Nuclear factor I family 1985 1993-12-15 2016-04-06 2020-04-01 4782 ENSG00000141905 OTTHUMG00000180731 uc002lxp.4 X12492 NM_005597 "CCDS58640|CCDS45914|CCDS59331|CCDS12107|CCDS59330" P08651 "3398920|7590749" MGI:109591 RGD:62016 600729 HGNC:7786 "ENST00000443272.3|NM_001245002.2" +HGNC:7787 NFIL3 nuclear factor, interleukin 3 regulated protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "E4BP4|NFIL3A|NF-IL3A" "E4 promoter-binding protein|adenovirus E4 promoter region binding protein" IL3BP1 interleukin-3 binding protein 1 Basic leucine zipper proteins 506 1995-02-13 2020-02-27 4783 ENSG00000165030 OTTHUMG00000020209 uc004arh.3 X64318 NM_005384 CCDS6690 Q16649 "7565758|1620116" MGI:109495 RGD:620972 605327 HGNC:7787 "ENST00000297689.4|NM_005384.3" +HGNC:52681 NFILZ NFIL3 like basic leucine zipper protein-coding gene gene with protein product Approved 19p13.2 19p13.2 LINC01862 long intergenic non-protein coding RNA 1862 Basic leucine zipper proteins 506 2016-12-01 2020-02-27 2020-02-27 2020-02-27 105372267 ENSG00000268480 OTTHUMG00000182192 NM_001378599 A0A5F9ZHS7 HGNC:52681 "ENST00000691075.1|NM_001378600.1" +HGNC:7788 NFIX nuclear factor I X protein-coding gene gene with protein product Approved 19p13.13 19p13.13 NF1A CCAAT-binding transcription factor nuclear factor I/X (CCAAT-binding transcription factor) Nuclear factor I family 1985 1993-11-03 2016-04-06 2021-05-26 4784 ENSG00000008441 OTTHUMG00000180726 uc002mwd.4 U18761 NM_002501 "CCDS59359|CCDS45996" Q14938 "8340106|7590749" MGI:97311 RGD:69080 164005 239888 HGNC:7788 "ENST00000592199.6|NM_001365902.3" HGNC:7788 +HGNC:7794 NFKB1 nuclear factor kappa B subunit 1 protein-coding gene gene with protein product Approved 4q24 04q24 "KBF1|p105|NFKB-p50|p50|NF-kappaB|NFkappaB|NF-kB1" Nuclear factor NF-kappa-B p105 subunit nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 "Ankyrin repeat domain containing|NF-kappa B complex subunits|IPT domain containing" "403|1254|1752" 1991-11-14 2016-04-29 2021-04-13 4790 ENSG00000109320 OTTHUMG00000161080 uc011cep.2 M58603 NM_003998 "CCDS3657|CCDS54783" P19838 1992489 MGI:97312 RGD:70498 LRG_1316|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1316.xml 164011 438054 HGNC:7794 "ENST00000226574.9|NM_003998.4" HGNC:7794 +HGNC:7795 NFKB2 nuclear factor kappa B subunit 2 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "LYT-10|p52|p105|NF-kB2|p49/p100" nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) "Ankyrin repeat domain containing|NF-kappa B complex subunits|IPT domain containing" "403|1254|1752" 1991-11-14 2016-04-29 2021-04-13 4791 ENSG00000077150 OTTHUMG00000018962 uc001kvb.6 X61498 NM_001077494 "CCDS41564|CCDS41565" Q00653 1876189 MGI:1099800 RGD:1307189 LRG_1347|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1347.xml NFKB2 164012 371170 HGNC:7795 "ENST00000661543.1|NM_001322934.2" HGNC:7795 +HGNC:7797 NFKBIA NFKB inhibitor alpha protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "IKBA|MAD-3|IkappaBalpha" NF-kappa-B inhibitor alpha NFKBI nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha Ankyrin repeat domain containing 403 1992-02-13 2016-02-25 2021-04-13 4792 ENSG00000100906 OTTHUMG00000140220 uc001wtf.5 NM_020529 CCDS9656 P25963 1829648 MGI:104741 RGD:3171 "NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency|http://structure.bmc.lu.se/idbase/NFKBIAbase/|LRG_89|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_89.xml" 164008 159788 HGNC:7797 "ENST00000216797.10|NM_020529.3" HGNC:7797 +HGNC:7798 NFKBIB NFKB inhibitor beta protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "IKBB|TRIP9" NF-kappa-B inhibitor beta nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta Ankyrin repeat domain containing 403 1997-07-01 2016-02-25 2019-08-21 4793 ENSG00000104825 OTTHUMG00000177631 uc002ojw.4 L40407 NM_002503 "CCDS12524|CCDS74362" Q15653 9763672 MGI:104752 RGD:621887 604495 HGNC:7798 "ENST00000313582.6|NM_002503.5" +HGNC:15671 NFKBID NFKB inhibitor delta protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "TA-NFKBH|IkappaBNS|IkBNS" NF-kappa-B inhibitor delta nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta Ankyrin repeat domain containing 403 2008-04-10 2016-02-25 2019-04-30 84807 ENSG00000167604 OTTHUMG00000180760 uc060xkk.1 AF385434 NM_032721 CCDS42552 Q8NI38 30127089 MGI:3041243 RGD:1308055 618887 HGNC:15671 +HGNC:7799 NFKBIE NFKB inhibitor epsilon protein-coding gene gene with protein product Approved 6p21.1 06p21.1 IKBE NF-kappa-B inhibitor epsilon nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon Ankyrin repeat domain containing 403 1997-07-01 2016-02-25 2016-02-25 4794 ENSG00000146232 OTTHUMG00000014762 uc003oxe.1 U91616 NM_004556 CCDS34463 O00221 9135156 MGI:1194908 RGD:735070 NFKBIE 604548 HGNC:7799 "ENST00000619360.6|NM_004556.3" +HGNC:7800 NFKBIL1 NFKB inhibitor like 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 IKBL NF-kappa-B inhibitor-like protein 1 NFKBIL nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 1994-09-12 2016-02-25 2016-10-05 4795 ENSG00000204498 OTTHUMG00000031038 uc003nub.4 X77909 NM_005007 "CCDS47400|CCDS4700|CCDS47399" Q9UBC1 8081366 MGI:1340031 RGD:1303310 601022 HGNC:7800 "ENST00000376148.9|NM_005007.4" +HGNC:29805 NFKBIZ NFKB inhibitor zeta protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "MAIL|FLJ34463|INAP" "IL-1 inducible nuclear ankyrin-repeat protein|NF-kappa-B inhibitor zeta" nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta Ankyrin repeat domain containing 403 2004-09-29 2016-02-25 2016-10-05 64332 ENSG00000144802 OTTHUMG00000159194 uc003dvp.4 AF548362 NM_031419 "CCDS43123|CCDS2946" Q9BYH8 "12565889|16513645" MGI:1931595 RGD:1310834 608004 objectId:3008 HGNC:29805 "ENST00000326172.9|NM_031419.4" HGNC:29805 +HGNC:7802 NFRKB nuclear factor related to kappaB binding protein protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "DKFZp547B2013|INO80G" "nuclear factor related to kappa B binding protein|DNA-binding protein R kappa B|INO80 complex subunit G" INO80 complex 595 1992-06-22 2016-10-05 4798 ENSG00000170322 OTTHUMG00000165761 uc058jbv.1 NM_006165 "CCDS8483|CCDS44770" Q6P4R8 1427843 MGI:2442410 RGD:1310558 164013 HGNC:7802 "ENST00000682444.1|NM_001143835.2" +HGNC:15910 NFS1 NFS1 cysteine desulfurase protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "NifS|IscS" "nitrogen fixation 1 (S. cerevisiae, homolog)|NFS1 nitrogen fixation 1 homolog (S. cerevisiae)" Mitochondrial iron-sulfur assembly components 1853 2001-08-01 2019-01-21 2019-01-21 9054 ENSG00000244005 OTTHUMG00000032361 uc002xdw.3 AF097025 NM_021100 "CCDS13262|CCDS56185" Q9Y697 "9885568|16847322" MGI:1316706 RGD:620912 603485 400611 2.8.1.7 HGNC:15910 "ENST00000374092.9|NM_021100.5" HGNC:15910 +HGNC:16287 NFU1 NFU1 iron-sulfur cluster scaffold protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "CGI-33|NifU|NIFUC" HIRIP5 "HIRA interacting protein 5|NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)" Mitochondrial iron-sulfur assembly components 1853 2001-10-30 2006-10-24 2014-07-03 2022-02-28 27247 ENSG00000169599 OTTHUMG00000152668 uc002sfk.4 AJ132584 NM_015700 "CCDS33217|CCDS42694|CCDS46315" Q9UMS0 "11342215|12886008" MGI:1913290 RGD:1307823 608100 289576 HGNC:16287 "ENST00000410022.7|NM_001002755.4" HGNC:16287 +HGNC:44553 NFU1P1 NFU1 iron-sulfur cluster scaffold pseudogene 1 pseudogene pseudogene Approved 3p22.1 03p22.1 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) pseudogene 1 2012-11-15 2014-07-03 2014-07-03 100132681 ENSG00000230757 OTTHUMG00000156282 NG_022247 PGOHUM00000238002 HGNC:44553 +HGNC:44554 NFU1P2 NFU1 iron-sulfur cluster scaffold pseudogene 2 pseudogene pseudogene Approved 1p21.3 01p21.3 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) pseudogene 2 2012-11-15 2014-07-03 2014-07-03 100132699 ENSG00000233557 OTTHUMG00000010679 NG_022795 PGOHUM00000244809 HGNC:44554 +HGNC:7803 NFX1 nuclear transcription factor, X-box binding 1 protein-coding gene gene with protein product Approved 9p12 09p12 "NFX2|MGC20369|Tex42|TEG-42" "Ring finger proteins|PHD finger proteins" "58|88" 1998-05-26 2017-12-01 4799 ENSG00000086102 OTTHUMG00000019772 uc003zsq.4 U19759 NM_001318758 "CCDS6538|CCDS6540" Q12986 "7964459|2511169|12047746" MGI:1921414 RGD:1310277 603255 HGNC:7803 "ENST00000379540.8|NM_002504.6" +HGNC:18726 NFXL1 nuclear transcription factor, X-box binding like 1 protein-coding gene gene with protein product Approved 4p12 04p12 HOZFP ovarian zinc finger protein Ring finger proteins 58 2002-06-05 2016-02-29 2017-12-01 152518 ENSG00000170448 OTTHUMG00000128621 uc010igi.4 AY134856 NM_152995 CCDS3478 Q6ZNB6 20522174 MGI:1923646 RGD:1359201 460881 HGNC:18726 "ENST00000507489.2|NM_001278624.2" +HGNC:7804 NFYA nuclear transcription factor Y subunit alpha protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "HAP2|CBF-B|NF-YA" nuclear transcription factor Y, alpha 1991-11-08 2015-11-11 2016-10-05 4800 ENSG00000001167 OTTHUMG00000014669 uc003opo.4 NM_002505 "CCDS4849|CCDS4850" P23511 "1774067|9612081" MGI:97316 RGD:70976 189903 HGNC:7804 "ENST00000341376.11|NM_002505.5" +HGNC:34078 NFYAP1 nuclear transcription factor Y subunit alpha pseudogene 1 pseudogene pseudogene Approved 13q21.31 13q21.31 NFYAP "nuclear transcription factor Y, alpha pseudogene|nuclear transcription factor Y, alpha pseudogene 1" 2008-04-18 2010-02-26 2015-11-11 2015-11-11 100130677 ENSG00000237849 OTTHUMG00000017027 NG_007867 HGNC:34078 +HGNC:7805 NFYB nuclear transcription factor Y subunit beta protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "CBF-A|HAP3|NF-YB" nuclear transcription factor Y, beta 1991-11-08 2015-11-11 2015-11-11 4801 ENSG00000120837 OTTHUMG00000170176 uc001tkl.2 NM_006166 CCDS9098 P25208 "1774067|9612081" MGI:97317 RGD:3172 189904 HGNC:7805 "ENST00000240055.8|NM_006166.4" +HGNC:54604 NFYBP1 NFYB pseudogene 1 pseudogene pseudogene Approved 3q13.13 03q13.13 2019-10-16 2019-10-16 440973 ENSG00000214380 OTTHUMG00000159219 NG_022215 PGOHUM00000299126 +HGNC:7806 NFYC nuclear transcription factor Y subunit gamma protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "CBF-C|NF-YC" nuclear transcription factor Y, gamma MicroRNA protein coding host genes 1691 1996-10-26 2015-11-11 2016-10-05 4802 ENSG00000066136 OTTHUMG00000007729 uc009vwd.5 U78774 NM_014223 "CCDS81306|CCDS455|CCDS44123|CCDS44122|CCDS44120|CCDS81305|CCDS44121" Q13952 "8921405|9249075" MGI:107901 RGD:3173 605344 HGNC:7806 "ENST00000447388.8|NM_014223.5" +HGNC:49451 NFYC-AS1 NFYC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 0808y08y Antisense RNAs 1987 2013-12-03 2013-12-03 100130557 ENSG00000272145 OTTHUMG00000185712 NR_024567 NFYC-AS1 HGNC:49451 +HGNC:54923 NFYCP1 NFYC pseudogene 1 pseudogene pseudogene Approved Xp21.1 Xp21.1 2020-04-29 2020-04-29 100128345 ENSG00000233880 NG_022655 +HGNC:54924 NFYCP2 NFYC pseudogene 2 pseudogene pseudogene Approved 9q21.33 09q21.33 2020-04-29 2020-04-29 494127 ENSG00000224887 NR_036691 +HGNC:14077 NGB neuroglobin protein-coding gene gene with protein product Approved 14q24.3 14q24.3 2000-11-28 2014-06-13 58157 ENSG00000165553 OTTHUMG00000171558 uc001xtg.2 AJ245946 NM_021257 CCDS9856 Q9NPG2 "11029004|17210637" MGI:2151886 RGD:621461 605304 HGNC:14077 "ENST00000298352.5|NM_021257.4" +HGNC:20271 NGDN neuroguidin protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "DKFZP564O092|LCP5|lpd-2|NGD|CANu1" C14orf120 "chromosome 14 open reading frame 120|neuroguidin, EIF4E binding protein" SSU processome 1484 2003-01-17 2006-08-02 2015-11-23 2015-11-23 25983 ENSG00000129460 OTTHUMG00000171501 uc001wjz.4 AK022215 NM_001042635 "CCDS32051|CCDS41926" Q8NEJ9 16705177 MGI:1916216 RGD:1310211 610777 HGNC:20271 "ENST00000408901.8|NM_001042635.2" +HGNC:7807 NGEF neuronal guanine nucleotide exchange factor protein-coding gene gene with protein product Approved 2q37.1 02q37.1 ARHGEF27 "ephexin|ephexin1" Dbl family Rho GEFs 722 1999-11-16 2018-11-16 25791 ENSG00000066248 OTTHUMG00000133272 uc002vts.3 AJ238899 NM_019850 "CCDS2500|CCDS46544" Q8N5V2 10777665 MGI:1858414 RGD:1309055 605991 HGNC:7807 "ENST00000264051.8|NM_019850.3" +HGNC:7808 NGF nerve growth factor protein-coding gene gene with protein product Approved 1p13.2 01p13.2 NGFB nerve growth factor (beta polypeptide) Neurotrophins 1585 2001-06-22 2008-02-07 2016-03-09 2021-05-26 4803 ENSG00000134259 OTTHUMG00000011880 uc001efu.2 NM_002506 CCDS882 P01138 MGI:97321 RGD:1598328 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_260|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_260.xml" 162030 123777 ligandId:5026 HGNC:7808 "ENST00000369512.3|NM_002506.3" HGNC:7808 +HGNC:53922 NGF-AS1 NGF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 RP4-663N10.1 Antisense RNAs 1987 2018-06-08 2018-06-08 112840934 ENSG00000228035 OTTHUMG00000011974 NR_157569 29855537 HGNC:53922 +HGNC:7809 NGFR nerve growth factor receptor protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "TNFRSF16|CD271|p75NTR" "low affinity nerve growth factor receptor|TNFR superfamily, member 16" nerve growth factor receptor (TNFR superfamily, member 16) "CD molecules|Tumor necrosis factor receptor superfamily|MicroRNA protein coding host genes" "471|782|1691" 2001-06-22 2010-04-28 2016-10-05 4804 ENSG00000064300 OTTHUMG00000161495 uc002ioz.5 M14764 NM_002507 CCDS11549 P08138 "3022937|3006050" MGI:97323 RGD:3177 162010 470778 objectId:1888 CD271 HGNC:7809 "ENST00000172229.8|NM_002507.4" +HGNC:55555 NGFR-AS1 NGFR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 Antisense RNAs 1987 2021-04-07 2021-04-07 100288866 ENSG00000249906 NR_103773 +HGNC:17646 NGLY1 N-glycanase 1 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "FLJ11005|PNG1|PNG-1" "peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase|peptide:N-glycanase" 2002-06-07 2021-05-26 55768 ENSG00000151092 OTTHUMG00000155600 uc003cdl.4 AF250924 NM_001145293 "CCDS46779|CCDS46777|CCDS46778|CCDS33719" Q96IV0 MGI:1913276 RGD:1308518 610661 406885 3.5.1.52 HGNC:17646 "ENST00000280700.10|NM_018297.4" HGNC:17646 +HGNC:18077 NGRN neugrin, neurite outgrowth associated protein-coding gene gene with protein product Approved 15q26.1 15q26.1 DSC92 2005-07-25 2014-11-19 51335 ENSG00000182768 OTTHUMG00000149807 uc002bpf.2 AB029315 NM_001033088 CCDS32329 Q9NPE2 11118320 MGI:1933212 RGD:1583734 616718 HGNC:18077 "ENST00000379095.5|NM_001033088.3" +HGNC:25737 NHEJ1 non-homologous end joining factor 1 protein-coding gene gene with protein product Approved 2q35 02q35 "Cernunnos|XLF|FLJ12610" XRCC4-like factor nonhomologous end-joining factor 1 2006-03-30 2015-11-18 2022-01-18 79840 ENSG00000187736 OTTHUMG00000133127 uc002vjp.5 AJ972687 NM_024782 CCDS2432 Q9H9Q4 "16439204|16439205" MGI:1922820 RGD:1359338 "NHEJ1base: Mutation registry for Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR|http://structure.bmc.lu.se/idbase/NHEJ1base/|LRG_90|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_90.xml" 611290 159501 HGNC:25737 "ENST00000356853.10|NM_024782.3" HGNC:25737 +HGNC:55561 NHIP neuronal hypoxia inducible, placenta associated non-coding RNA RNA, long non-coding Approved 22q13.32 22q13.32 Long non-coding RNAs with non-systematic symbols 1992 2022-02-18 2022-02-18 105373085 ENSG00000286381 XR_001755598 35168652 +HGNC:7817 NHLH1 nescient helix-loop-helix 1 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "NSCL|NSCL1|bHLHa35" HEN1 nescient helix loop helix 1 Basic helix-loop-helix proteins 420 1992-07-08 2015-11-11 2016-10-05 4807 ENSG00000171786 OTTHUMG00000033121 uc001fwa.3 BC013789 NM_005598 CCDS1204 Q02575 MGI:98481 RGD:1310261 162360 HGNC:7817 "ENST00000302101.6|NM_005598.4" +HGNC:7818 NHLH2 nescient helix-loop-helix 2 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "NSCL2|bHLHa34" HEN2 nescient helix loop helix 2 Basic helix-loop-helix proteins 420 1992-07-08 2015-11-11 2016-10-05 4808 ENSG00000177551 OTTHUMG00000011969 uc057jrm.1 NM_005599 CCDS885 Q02577 1528853 MGI:97324 RGD:1308294 162361 HGNC:7818 "ENST00000320238.3|NM_005599.3" +HGNC:21576 NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "bA204B7.2|EPM2B" "epilepsy, progressive myoclonus type 2B|malin" NHL repeat containing 1 Ring finger proteins 58 2003-10-06 2013-12-12 2021-05-26 378884 ENSG00000187566 OTTHUMG00000014315 uc003ncl.2 AY324849 NM_198586 CCDS4542 Q6VVB1 "12958597|16134145" MGI:2145264 RGD:735081 608072 123779 HGNC:21576 "ENST00000340650.6|NM_198586.3" HGNC:21576 +HGNC:24731 NHLRC2 NHL repeat containing 2 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ25621|FLJ20147|FLJ33312|MGC45492|DKFZp779F115" 2004-05-27 2019-02-25 374354 ENSG00000196865 OTTHUMG00000019078 uc001lax.3 AK090631 NM_198514 CCDS7585 Q8NBF2 "30138417|30397336" MGI:1914116 RGD:1307348 618277 HGNC:24731 "ENST00000369301.3|NM_198514.4" HGNC:24731 +HGNC:33751 NHLRC3 NHL repeat containing 3 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 2007-12-18 2018-03-07 387921 ENSG00000188811 OTTHUMG00000016765 uc001uxc.5 NM_001012754 "CCDS31962|CCDS31961" Q5JS37 MGI:2444520 RGD:1565414 HGNC:33751 "ENST00000379600.8|NM_001012754.4" +HGNC:26700 NHLRC4 NHL repeat containing 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 2009-10-08 2015-08-25 283948 ENSG00000257108 OTTHUMG00000047857 uc021szs.3 NM_176677 CCDS45366 P0CG21 12477932 MGI:3687200 RGD:6503435 HGNC:26700 "ENST00000424439.3|NM_001301159.2" +HGNC:14377 NHP2 NHP2 ribonucleoprotein protein-coding gene gene with protein product Approved 5q35.3 05q35.3 FLJ20479 NOLA2 "nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)|NHP2 ribonucleoprotein homolog (yeast)" H/ACA ribonucleoprotein complex 1221 2001-02-06 2008-10-13 2012-12-10 2021-05-26 55651 ENSG00000145912 OTTHUMG00000130886 uc003mir.4 AF161404 NM_017838 "CCDS34308|CCDS4432" Q9NX24 11074001 MGI:1098547 RGD:1309435 LRG_346|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_346.xml 606470 205594 HGNC:14377 "ENST00000274606.8|NM_017838.4" HGNC:14377 +HGNC:23582 NHP2P1 NHP2 ribonucleoprotein pseudogene 1 pseudogene pseudogene Approved 10q23.32 10q23.32 bA360G10.4 NOLA2P1 "nucleolar protein family A, member 2 pseudogene 1|NHP2 ribonucleoprotein homolog (yeast) pseudogene 1" 2004-05-27 2008-10-13 2012-12-10 2014-11-18 414200 ENSG00000105988 OTTHUMG00000018755 NG_005297 HGNC:23582 +HGNC:22797 NHP2P2 NHP2 ribonucleoprotein pseudogene 2 pseudogene pseudogene Approved 7p15.2 07p15.2 TCAG_30283 NHP2 ribonucleoprotein homolog (yeast) pseudogene 2 2010-06-17 2012-12-10 2014-11-18 442290 ENSG00000213786 OTTHUMG00000033542 NG_005298 PGOHUM00000233158 HGNC:22797 +HGNC:7820 NHS NHS actin remodeling regulator protein-coding gene gene with protein product Approved Xp22.2-p22.13 Xp22.2-p22.13 Nance-Horan syndrome (congenital cataracts and dental anomalies) MicroRNA protein coding host genes 1691 1989-06-30 2015-11-18 2020-04-02 4810 ENSG00000188158 OTTHUMG00000022799 uc004cxx.4 NM_198270 "CCDS48087|CCDS14181" Q6T4R5 20332100 MGI:2684894 RGD:1561818 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NHS 300457 123783 HGNC:7820 "ENST00000676302.1|NM_001291867.2" HGNC:7820 +HGNC:40403 NHS-AS1 NHS antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.13 Xp22.13 NHS antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873920 ENSG00000230020 OTTHUMG00000021203 uc064yer.1 NR_046632 NHS-AS1 HGNC:40403 +HGNC:21021 NHSL1 NHS like 1 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "bA43P8.1|KIAA1357" C6orf63 chromosome 6 open reading frame 63 MicroRNA protein coding host genes 1691 2003-05-06 2004-10-07 2015-11-18 2018-11-15 57224 ENSG00000135540 OTTHUMG00000016321 uc011edp.3 AB037778 NM_020464 "CCDS47487|CCDS55063" Q5SYE7 MGI:106390 RGD:1308124 HGNC:21021 "ENST00000343505.10|NM_001144060.2" +HGNC:40947 NHSL1-AS1 NHSL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.1 06q24.1 FLJ46906 Antisense RNAs 1987 2022-01-07 2022-01-07 441172 ENSG00000225177 OTTHUMG00000015677 NR_033896 +HGNC:33737 NHSL2 NHS like 2 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 2007-12-06 2015-11-18 2020-04-02 340527 ENSG00000204131 OTTHUMG00000021807 uc284rbn.1 NM_001013627 CCDS87759 Q5HYW2 MGI:3645090 RGD:1564117 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NHSL2 HGNC:33737 "ENST00000633930.2|NM_001013627.3" +HGNC:16784 NIBAN1 niban apoptosis regulator 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "NIBAN|GIG39" cell growth inhibiting protein 39 "C1orf24|FAM129A" "chromosome 1 open reading frame 24|family with sequence similarity 129 member A" 2001-10-08 2019-04-18 2019-04-18 2019-04-18 116496 ENSG00000135842 OTTHUMG00000035388 uc001gra.5 AF288391 NM_052966 CCDS1364 Q9BZQ8 "15085203|16444351" MGI:2137237 RGD:71088 619294 HGNC:16784 "ENST00000367511.4|NM_052966.4" +HGNC:25282 NIBAN2 niban apoptosis regulator 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "DKFZP434H0820|FLJ13518|FLJ22151|FLJ22298|bA356B19.6|MINERVA" melanoma invasion by ERK "C9orf88|FAM129B" "chromosome 9 open reading frame 88|family with sequence similarity 129 member B" 2004-02-19 2019-04-18 2019-04-18 2019-04-18 64855 ENSG00000136830 OTTHUMG00000020705 uc004brh.5 AF151783 NM_022833 "CCDS35144|CCDS35145" Q96TA1 "19362540|26721396" MGI:2442910 RGD:1307018 614045 HGNC:25282 "ENST00000373312.4|NM_022833.4" +HGNC:24130 NIBAN3 niban apoptosis regulator 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ39802|BCNP1" FAM129C family with sequence similarity 129 member C 2006-11-23 2019-04-18 2019-04-18 2020-04-01 199786 ENSG00000167483 OTTHUMG00000182892 uc060vkd.1 AY254198 NM_173544 "CCDS82317|CCDS42521|CCDS86723|CCDS12362|CCDS82314|CCDS82315" Q86XR2 "12886250|27680505" MGI:3686743 RGD:1566103 609967 HGNC:24130 "ENST00000599164.6|NM_001321827.2" +HGNC:18317 NICN1 nicolin 1, tubulin polyglutamylase complex subunit protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC12936 nicolin 1 Tubulin polyglutamylase complex subunits 2117 2002-03-13 2021-12-09 2021-12-09 84276 ENSG00000145029 OTTHUMG00000156848 uc003cwz.2 AJ299740 NM_032316 CCDS2798 Q9BSH3 12392556 MGI:1913507 RGD:1589574 611516 HGNC:18317 "ENST00000273598.8|NM_032316.3" +HGNC:18322 NICN2P nicolin 2, pseudogene pseudogene pseudogene Approved Xp11.3 Xp11.3 2002-03-13 2020-04-07 171176 ENSG00000237623 OTTHUMG00000021441 NG_005534 PGOHUM00000304591 HGNC:18322 +HGNC:7821 NID1 nidogen 1 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 entactin NID nidogen (enactin) 1989-05-25 2005-06-02 2005-06-02 2016-10-05 4811 ENSG00000116962 OTTHUMG00000040071 uc001hxo.4 BC045606 NM_002508 CCDS1608 P14543 "2471408|7557988" MGI:97342 RGD:3178 131390 HGNC:7821 "ENST00000264187.7|NM_002508.3" +HGNC:13389 NID2 nidogen 2 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 osteonidogen 2001-06-25 2015-11-23 2015-11-23 22795 ENSG00000087303 OTTHUMG00000140298 uc001wzo.4 AB009799 NM_007361 CCDS9706 Q14112 9733643 MGI:1298229 RGD:1311685 605399 HGNC:13389 "ENST00000216286.10|NM_007361.4" +HGNC:13390 NIF3L1 NGG1 interacting factor 3 like 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CALS-7|MDS015" ALS2CR1 "NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1|NIF3 NGG1 interacting factor 3-like 1 (S. pombe)|NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)|NIF3 NGG1 interacting factor 3-like 1" 2001-01-02 2015-11-18 2016-10-05 60491 ENSG00000196290 OTTHUMG00000154588 uc061rgx.1 AB038949 NM_021824 "CCDS46485|CCDS42797|CCDS46486" Q9GZT8 "11124544|11161814|12522100" MGI:1929485 RGD:1310329 605778 HGNC:13390 "ENST00000409020.6|NM_001369441.2" +HGNC:17838 NIFK nucleolar protein interacting with the FHA domain of MKI67 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "Nopp34|hNIFK" nucleolar protein interacting with the FHA domain of pKi-67 MKI67IP MKI67 (FHA domain) interacting nucleolar phosphoprotein RNA binding motif containing 725 2002-05-03 2013-10-10 2013-10-10 2019-02-08 84365 ENSG00000155438 OTTHUMG00000131442 AB044971 NM_032390 CCDS2135 Q9BYG3 "11342549|16244663|25826659" MGI:1915199 RGD:708462 611970 HGNC:17838 "ENST00000285814.9|NM_032390.5" +HGNC:27385 NIFK-AS1 NIFK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.3 02q14.3 Antisense RNAs 1987 2013-10-10 2014-11-19 254128 ENSG00000236859 OTTHUMG00000153332 NR_037856 12477932 NIFK-AS1 HGNC:27385 +HGNC:44949 NIFKP1 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 1 pseudogene pseudogene Approved 10p11.23 10p11.23 MKI67IPP1 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 1 2012-12-19 2013-10-10 2013-10-10 2013-10-10 401825 ENSG00000214434 OTTHUMG00000017891 NG_009461 PGOHUM00000238710 HGNC:44949 +HGNC:44950 NIFKP2 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 2 pseudogene pseudogene Approved 5q35.2 05q35.2 MKI67IPP2 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 2 2012-12-19 2013-10-10 2013-10-10 2013-10-10 645398 ENSG00000251122 OTTHUMG00000163127 NG_009465 PGOHUM00000235840 HGNC:44950 +HGNC:44951 NIFKP3 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 3 pseudogene pseudogene Approved 12p13.31 12p13.31 MKI67IPP3 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 3 2012-12-19 2013-10-10 2013-10-10 2013-10-10 100270648 ENSG00000256331 OTTHUMG00000168431 NG_009474 PGOHUM00000239307 HGNC:44951 +HGNC:44952 NIFKP4 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 4 pseudogene pseudogene Approved 15q24.2 15q24.2 MKI67IPP4 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 4 2012-12-19 2013-10-10 2013-10-10 2013-10-10 100128707 ENSG00000261205 OTTHUMG00000172670 NG_009467 PGOHUM00000246855 HGNC:44952 +HGNC:44953 NIFKP5 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 5 pseudogene pseudogene Approved 15q26.1 15q26.1 MKI67IPP5 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 5 2012-12-19 2013-10-10 2013-10-10 2013-10-10 100128397 NG_009470 PGOHUM00000246925 HGNC:44953 +HGNC:44954 NIFKP6 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 6 pseudogene pseudogene Approved 19q13.41 19q13.41 MKI67IPP6 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 6 2012-12-19 2013-10-10 2013-10-10 2013-10-10 100132796 ENSG00000268144 OTTHUMG00000182966 NG_009462 PGOHUM00000264268 HGNC:44954 +HGNC:44955 NIFKP7 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 7 pseudogene pseudogene Approved 3p22.3 03p22.3 MKI67IPP7 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 7 2012-12-20 2013-10-10 2013-10-10 2013-10-10 106479049 ENSG00000251590 OTTHUMG00000155837 NG_044490 PGOHUM00000237570 HGNC:44955 +HGNC:44956 NIFKP8 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 8 pseudogene pseudogene Approved 15q25.3 15q25.3 MKI67IPP8 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 8 2012-12-20 2013-10-10 2013-10-10 2013-10-10 642907 ENSG00000259449 OTTHUMG00000172140 NG_009464 PGOHUM00000246911 HGNC:44956 +HGNC:44957 NIFKP9 nucleolar protein interacting with the FHA domain of MKI67 pseudogene 9 pseudogene pseudogene Approved 2q14.3 02q14.3 MKI67IPP9 MKI67 (FHA domain) interacting nucleolar phosphoprotein pseudogene 9 2012-12-20 2013-10-10 2013-10-10 2013-10-10 106480805 ENSG00000237630 OTTHUMG00000153399 NG_045146 PGOHUM00000240897 HGNC:44957 +HGNC:28646 NIM1K NIM1 serine/threonine protein kinase protein-coding gene gene with protein product Approved 5p12 05p12 "MGC42105|NIM1" 2014-01-07 2014-11-19 167359 ENSG00000177453 OTTHUMG00000131147 BC036422 NM_153361 CCDS3943 Q8IY84 15733851 MGI:2442399 RGD:1308116 objectId:2291 HGNC:28646 "ENST00000326035.6|NM_153361.4" +HGNC:14906 NIN ninein protein-coding gene gene with protein product Approved 14q22.1 14q22.1 ninein (GSK3B interacting protein) EF-hand domain containing 863 2001-03-15 2015-11-23 2016-10-05 51199 ENSG00000100503 OTTHUMG00000029569 uc001wym.4 AF212162 NM_182946 "CCDS32078|CCDS32079" Q8N4C6 "11004522|11162463" MGI:105108 RGD:1306492 NIN 608684 325022 HGNC:14906 "ENST00000530997.7|NM_020921.4" HGNC:14906 +HGNC:7824 NINJ1 ninjurin 1 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 NIN1 nerve injury-induced protein-1 1997-07-07 2016-10-05 4814 ENSG00000131669 OTTHUMG00000020242 uc004atg.4 U91512 NM_004148 CCDS6703 Q92982 8780658 MGI:1196617 RGD:3179 602062 HGNC:7824 "ENST00000375446.5|NM_004148.4" +HGNC:7825 NINJ2 ninjurin 2 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 1997-07-07 2016-10-05 4815 ENSG00000171840 OTTHUMG00000090311 uc001qil.4 AF205633 NM_016533 "CCDS76499|CCDS73418" Q9NZG7 10627596 MGI:1352751 RGD:620552 607297 HGNC:7825 "ENST00000305108.10|NM_016533.6" +HGNC:40405 NINJ2-AS1 NINJ2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Antisense RNAs 1987 2019-08-16 2019-08-16 100049716 ENSG00000177406 OTTHUMG00000168059 NR_122124 HGNC:40405 +HGNC:29163 NINL ninein like protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "KIAA0980|NLP" ninein-like protein EF-hand domain containing 863 2009-05-01 2015-11-23 2016-10-05 22981 ENSG00000101004 OTTHUMG00000032127 uc002wux.3 NM_025176 "CCDS82605|CCDS33452" Q9Y2I6 10231032 MGI:1925427 RGD:1306152 609580 HGNC:29163 "ENST00000278886.11|NM_025176.6" +HGNC:24328 NIP7 nucleolar pre-rRNA processing protein NIP7 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CGI-37|FLJ10296|HSPC031|KD93" nuclear import 7 homolog (S. cerevisiae) Ribosomal biogenesis factors 1729 2005-12-01 2019-01-21 2019-01-21 51388 ENSG00000132603 OTTHUMG00000137568 uc002exa.4 AB112439 NM_016101 "CCDS56003|CCDS10877" Q9Y221 "14660641|22195017|20798176" MGI:1913414 RGD:620069 619204 HGNC:24328 "ENST00000254940.10|NM_016101.5" +HGNC:45180 NIP7P1 NIP7 pseudogene 1 pseudogene pseudogene Approved 10q23.33 10q23.33 2013-03-04 2019-01-21 2019-01-21 389997 ENSG00000232805 OTTHUMG00000018769 NG_023276 PGOHUM00000238587 HGNC:45180 +HGNC:45181 NIP7P2 NIP7 pseudogene 2 pseudogene pseudogene Approved 3q22.1 03q22.1 2013-03-04 2019-01-21 2019-01-21 646392 ENSG00000213264 OTTHUMG00000159673 NG_022272 PGOHUM00000238193 HGNC:45181 +HGNC:45182 NIP7P3 NIP7 pseudogene 3 pseudogene pseudogene Approved 6q22.1 06q22.1 2013-03-04 2019-01-21 2019-01-21 100421245 ENSG00000218428 OTTHUMG00000015425 NG_025858 PGOHUM00000243337 HGNC:45182 +HGNC:17043 NIPA1 NIPA magnesium transporter 1 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "MGC35570|SLC57A1" SPG6 "spastic paraplegia 6 (autosomal dominant)|non imprinted in Prader-Willi/Angelman syndrome 1" Solute carriers 752 2004-01-23 2018-02-23 2018-02-23 123606 ENSG00000170113 OTTHUMG00000129099 uc001yvc.4 BK001020 NM_144599 "CCDS73691|CCDS73692" Q7RTP0 14508710 MGI:2442058 RGD:1305401 608145 123785 objectId:3033 HGNC:17043 "ENST00000337435.9|NM_144599.5" HGNC:17043 +HGNC:17044 NIPA2 NIPA magnesium transporter 2 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 SLC57A2 non imprinted in Prader-Willi/Angelman syndrome 2 Solute carriers 752 2004-09-30 2018-02-23 2018-02-23 81614 ENSG00000140157 OTTHUMG00000129101 uc001yuy.3 AY732242 NM_030922 "CCDS73693|CCDS73694" Q8N8Q9 14508708 MGI:1913918 RGD:1306051 608146 470780 objectId:3034 HGNC:17044 "ENST00000337451.8|NM_030922.7" +HGNC:42041 NIPA2P1 NIPA2 pseudogene 1 pseudogene pseudogene Approved 7q21.13 07q21.13 "non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1|NIPA magnesium transporter 2 pseudogene 1" 2011-06-01 2019-08-28 2019-08-28 100132321 ENSG00000225843 OTTHUMG00000156061 NG_021278 PGOHUM00000232915 HGNC:42041 +HGNC:42042 NIPA2P2 NIPA2 pseudogene 2 pseudogene pseudogene Approved 3p12.3 03p12.3 "non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2|NIPA magnesium transporter 2 pseudogene 2" 2011-06-01 2019-08-28 2019-08-28 100130204 ENSG00000241022 OTTHUMG00000158821 NG_021276 PGOHUM00000238069 HGNC:42042 +HGNC:42043 NIPA2P3 NIPA2 pseudogene 3 pseudogene pseudogene Approved 21q21.1 21q21.1 "non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3|NIPA magnesium transporter 2 pseudogene 3" 2011-06-01 2019-08-28 2019-08-28 100128057 ENSG00000271486 OTTHUMG00000184880 NG_021277 PGOHUM00000239151 HGNC:42043 +HGNC:42044 NIPA2P4 NIPA2 pseudogene 4 pseudogene pseudogene Approved 8q21.13 08q21.13 "non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4|NIPA magnesium transporter 2 pseudogene 4" 2011-06-01 2019-08-28 2019-08-28 100421776 ENSG00000254151 OTTHUMG00000164769 NG_026045 PGOHUM00000249407 HGNC:42044 +HGNC:42045 NIPA2P5 NIPA2 pseudogene 5 pseudogene pseudogene Approved 13q31.1 13q31.1 "non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5|NIPA magnesium transporter 2 pseudogene 5" 2011-06-01 2019-08-28 2019-08-28 100874488 ENSG00000236277 OTTHUMG00000017127 NG_032396 PGOHUM00000248644 HGNC:42045 +HGNC:27194 NIPAL1 NIPA like domain containing 1 protein-coding gene gene with protein product Approved 4p12 04p12 "DKFZp686A06115|SLC57A3" NPAL1 Solute carriers 752 2005-07-20 2009-03-24 2016-01-18 2020-10-07 152519 ENSG00000163293 OTTHUMG00000128622 uc003gxw.4 BC067881 NM_207330 CCDS3479 Q6NVV3 MGI:1917951 RGD:1310092 objectId:3035 HGNC:27194 "ENST00000295461.10|NM_207330.3" +HGNC:25854 NIPAL2 NIPA like domain containing 2 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "FLJ13955|SLC57A4" NPAL2 Solute carriers 752 2005-07-20 2009-03-24 2016-01-18 2020-10-07 79815 ENSG00000104361 OTTHUMG00000164668 uc003yim.2 AK024017 NM_024759 "CCDS83310|CCDS6278" Q9H841 14702039 MGI:1924488 RGD:1564315 objectId:3036 HGNC:25854 "ENST00000430223.7|NM_001321635.2" +HGNC:25233 NIPAL3 NIPA like domain containing 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "DJ462O23.2|SLC57A5" NPAL3 Solute carriers 752 2005-07-20 2009-03-24 2016-01-18 2020-10-07 57185 ENSG00000001461 OTTHUMG00000003299 uc001bjh.4 BX640883 NM_020448 "CCDS81281|CCDS30631|CCDS81282|CCDS81280" Q6P499 "8619474|9110174" MGI:1921802 RGD:1563439 objectId:3037 HGNC:25233 "ENST00000374399.9|NM_020448.5" +HGNC:28018 NIPAL4 NIPA like domain containing 4 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "ICHYN|SLC57A6" ichthyin NIPA-like 4 Solute carriers 752 2009-03-24 2016-01-18 2020-10-07 348938 ENSG00000172548 OTTHUMG00000163497 uc003lwx.5 AK026158 NM_001099287 CCDS54944 Q0D2K0 "8619474|9110174|15317751" MGI:2444671 RGD:1309452 609383 223546 objectId:3038 HGNC:28018 "ENST00000311946.8|NM_001099287.2" HGNC:28018 +HGNC:55542 NIPAL4-DT NIPAL4 divergent transcript non-coding RNA RNA, long non-coding Approved 5q33.3 05q33.3 Divergent transcripts 1990 2021-03-24 2021-03-24 102724404 ENSG00000251405 NR_136204 +HGNC:28862 NIPBL NIPBL cohesin loading factor protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "IDN3|DKFZp434L1319|FLJ11203|FLJ12597|FLJ13354|FLJ13648|Scc2" sister chromatid cohesion 2 homolog (yeast) "Nipped-B homolog (Drosophila)|NIPBL, cohesin loading factor" Armadillo like helical domain containing 1492 2004-07-21 2019-01-25 2021-05-26 25836 ENSG00000164190 OTTHUMG00000090795 uc003jkl.5 AB019494 NM_015384 "CCDS47198|CCDS3920" Q6KC79 "15146186|15146185" MGI:1913976 RGD:1306393 "LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=NIPBL|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NIPBL" 608667 123789 HGNC:28862 "ENST00000282516.13|NM_133433.4" HGNC:28862 +HGNC:51293 NIPBL-DT NIPBL divergent transcript non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 NIPBL-AS NIPBL-AS1 NIPBL antisense RNA 1 (head to head) Divergent transcripts 1990 2014-09-19 2018-03-23 2018-03-23 2018-03-28 646719 ENSG00000285967 NR_046262 "24007600|29261648" NIPBL-AS1 HGNC:51293 +HGNC:7827 NIPSNAP1 nipsnap homolog 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1 "NIPSNAP, C. elegans, homolog 1|nipsnap homolog 1 (C. elegans)" 1998-09-30 2016-12-14 2016-12-14 8508 ENSG00000184117 OTTHUMG00000151294 uc003afx.5 AJ001258 NM_001202502 CCDS13860 Q9BPW8 9661659 MGI:1278344 RGD:1310419 603249 HGNC:7827 "ENST00000216121.12|NM_003634.4" +HGNC:4179 NIPSNAP2 nipsnap homolog 2 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 GBAS glioblastoma amplified sequence 1997-10-30 2017-03-16 2017-03-16 2017-03-16 2631 ENSG00000146729 OTTHUMG00000022932 uc003tre.3 AF029786 NM_001483 "CCDS5521|CCDS56488" O75323 "9615231|9661659|20888800" MGI:1278343 RGD:1566421 603004 HGNC:4179 "ENST00000322090.8|NM_001483.3" +HGNC:23619 NIPSNAP3A nipsnap homolog 3A protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "DKFZp564D177|FLJ13953|HSPC299|MGC14553" nipsnap homolog 3A (C. elegans) 2003-11-27 2016-04-19 2016-10-05 25934 ENSG00000136783 OTTHUMG00000020413 uc004bch.1 BC005935 NM_015469 CCDS6760 Q9UFN0 15177564 "MGI:1913786|MGI:1920648" RGD:1359688 608871 HGNC:23619 "ENST00000374767.5|NM_015469.3" +HGNC:23641 NIPSNAP3B nipsnap homolog 3B protein-coding gene gene with protein product Approved 9q31.1 09q31.1 FLJ11275 nipsnap homolog 3B (C. elegans) 2003-11-27 2016-04-19 2016-10-05 55335 ENSG00000165028 OTTHUMG00000020414 uc004bci.3 BC017914 NM_018376 CCDS6761 Q9BS92 12477932 "MGI:1913786|MGI:1920648" 608872 HGNC:23641 "ENST00000374762.4|NM_018376.4" +HGNC:18006 NISCH nischarin protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "KIAA0975|I-1|IRAS" "imidazoline receptor candidate|I-1 receptor candidate protein|imidazoline receptor antisera selected" 2002-01-16 2014-11-19 11188 ENSG00000010322 OTTHUMG00000158571 uc032rnx.2 AF082516 NM_007184 "CCDS63652|CCDS63651|CCDS33767" Q9Y2I1 "11912194|10882231" MGI:1928323 RGD:1306950 615507 HGNC:18006 "ENST00000345716.9|NM_007184.4" +HGNC:7828 NIT1 nitrilase 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 1998-04-27 2016-10-05 4817 ENSG00000158793 OTTHUMG00000031473 uc001fxv.3 AF069984 NM_001185092 "CCDS53403|CCDS53401|CCDS1218|CCDS53402" Q86X76 9671749 MGI:1350916 RGD:727821 604618 HGNC:7828 "ENST00000368009.7|NM_005600.3" +HGNC:29878 NIT2 nitrilase family member 2 protein-coding gene gene with protein product Approved 3q12.2 03q12.2 omega-amidase NIT2 nitrilase family, member 2 2004-07-12 2015-11-18 2016-10-05 56954 ENSG00000114021 OTTHUMG00000159066 uc003dtv.4 AF284574 NM_020202 CCDS33806 Q9NQR4 10959838 MGI:1261838 RGD:1310494 616769 HGNC:29878 "ENST00000394140.9|NM_020202.5" +HGNC:25743 NKAIN1 sodium/potassium transporting ATPase interacting 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 FLJ12650 sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 FAM77C "family with sequence similarity 77, member C|Na+/K+ transporting ATPase interacting 1|Sodium/potassium transporting ATPase interacting 1" Na+/K+ transporting ATPase interacting 659 2005-09-02 2007-10-04 2017-03-23 2017-03-23 79570 ENSG00000084628 OTTHUMG00000003788 uc010ogd.3 AK022712 NM_024522 CCDS339 Q4KMZ8 17606467 MGI:1914399 RGD:1561205 612871 HGNC:25743 "ENST00000373736.7|NM_024522.3" +HGNC:38593 NKAIN1P1 NKAIN1 pseudogene 1 pseudogene pseudogene Approved 1q21.1 01q21.1 "Na+/K+ transporting ATPase interacting 1 pseudogene 1|sodium/potassium transporting ATPase interacting 1 pseudogene 1" 2010-10-25 2019-12-18 2019-12-18 100462647 ENSG00000242943 OTTHUMG00000040703 NG_021262 PGOHUM00000244253 HGNC:38593 +HGNC:54726 NKAIN1P2 NKAIN1 pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-18 2019-12-18 100462648 ENSG00000271627 NG_021263 +HGNC:16443 NKAIN2 sodium/potassium transporting ATPase interacting 2 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 FAM77B TCBA1 "T-cell lymphoma breakpoint associated target 1|Na+/K+ transporting ATPase interacting 2" Na+/K+ transporting ATPase interacting 659 2001-08-31 2007-10-04 2017-03-23 2017-03-23 154215 ENSG00000188580 OTTHUMG00000015500 uc003pzo.4 AB070452 NM_001040214 CCDS34526 Q5VXU1 17606467 MGI:1923447 RGD:7740967 609758 HGNC:16443 "ENST00000368417.6|NM_001040214.3" +HGNC:26829 NKAIN3 sodium/potassium transporting ATPase interacting 3 protein-coding gene gene with protein product Approved 8q12.3 08q12.3 FLJ39630 "FAM77D|NKAIN3-IT1" "family with sequence similarity 77, member D|Na+/K+ transporting ATPase interacting 3|NKAIN3 intronic transcript" Na+/K+ transporting ATPase interacting 659 2005-09-02 2007-10-04 2017-03-23 2020-01-31 286183 ENSG00000185942 OTTHUMG00000164361 uc010lyq.2 AK096949 NM_001304533 Q8N8D7 17606467 MGI:2444830 RGD:1591051 612872 HGNC:26829 "ENST00000623646.3|NM_001304533.3" +HGNC:16191 NKAIN4 sodium/potassium transporting ATPase interacting 4 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "bA261N11.2|FAM77A" C20orf58 "chromosome 20 open reading frame 58|Na+/K+ transporting ATPase interacting 4" Na+/K+ transporting ATPase interacting 659 2001-07-17 2007-10-04 2017-03-23 2017-03-23 128414 ENSG00000101198 OTTHUMG00000032959 uc002yek.3 BC041812 NM_152864 "CCDS13514|CCDS86967|CCDS86968" Q8IVV8 17606467 MGI:1915372 RGD:1305809 612873 HGNC:16191 "ENST00000370316.8|NM_152864.4" +HGNC:29873 NKAP NFKB activating protein protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ22626 NF kappaB activating protein 2007-08-16 2020-04-02 79576 ENSG00000101882 OTTHUMG00000022284 uc004esh.4 BC012770 NM_024528 CCDS14592 Q8N5F7 14550261 MGI:1914300 RGD:1565955 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NKAP 300766 HGNC:29873 "ENST00000371410.5|NM_024528.4" HGNC:29873 +HGNC:25569 NKAPD1 NKAP domain containing 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 FLJ10726 C11orf57 chromosome 11 open reading frame 57 2006-03-08 2017-08-18 2017-08-18 2017-08-18 55216 ENSG00000150776 OTTHUMG00000150213 uc001pmt.5 BX538107 NM_018195 "CCDS73383|CCDS8356|CCDS41715" Q6ZUT1 12477932 MGI:2143205 RGD:2293296 HGNC:25569 "ENST00000393047.8|NM_018195.4" +HGNC:21584 NKAPL NFKB activating protein like protein-coding gene gene with protein product Approved 6p22.1 06p22.1 bA424I5.1 C6orf194 "chromosome 6 open reading frame 194|NFKB activating protein-like" 2003-06-25 2007-08-16 2015-11-23 2016-10-05 222698 ENSG00000189134 OTTHUMG00000014517 uc003nkt.5 BC038240 NM_001007531 CCDS34353 Q5M9Q1 MGI:1913957 RGD:1311667 HGNC:21584 "ENST00000343684.4|NM_001007531.3" +HGNC:26706 NKAPP1 NFKB activating protein pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 FLJ36576 CXorf42 chromosome X open reading frame 42 2004-09-09 2010-07-20 2010-07-20 2015-03-11 158801 ENSG00000233382 OTTHUMG00000022295 AK093895 NR_027131 Q8N9T2 HGNC:26706 +HGNC:17045 NKD1 NKD inhibitor of WNT signaling pathway 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "naked cuticle homolog 1 (Drosophila)|naked cuticle homolog 1|NKD1, WNT signaling pathway inhibitor" EF-hand domain containing 863 2001-10-19 2019-01-25 2019-01-25 85407 ENSG00000140807 OTTHUMG00000133169 uc002egg.3 AF358135 NM_033119 CCDS10743 Q969G9 "11356022|25904337" MGI:2135954 RGD:1308491 607851 HGNC:17045 "ENST00000268459.6|NM_033119.5" +HGNC:17046 NKD2 NKD inhibitor of WNT signaling pathway 2 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 Naked2 "naked cuticle-2|Dvl-binding protein NKD2" "naked cuticle homolog 2 (Drosophila)|naked cuticle homolog 2|NKD2, WNT signaling pathway inhibitor" EF-hand domain containing 863 2001-10-19 2019-01-25 2019-01-25 85409 ENSG00000145506 OTTHUMG00000090348 uc003jbt.3 AF358137 NM_033120 "CCDS3859|CCDS59486" Q969F2 "11356022|11604995" MGI:1919543 RGD:1311459 607852 HGNC:17046 "ENST00000296849.10|NM_033120.4" +HGNC:7830 NKG7 natural killer cell granule protein 7 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "GIG1|GMP-17" granule membrane protein 17 natural killer cell group 7 sequence 1993-12-15 2014-03-07 2014-11-19 4818 ENSG00000105374 OTTHUMG00000182898 uc002pwj.4 NM_005601 "CCDS86796|CCDS12830" Q16617 8458737 MGI:1931250 RGD:621523 606008 HGNC:7830 "ENST00000221978.10|NM_005601.4" +HGNC:51599 NKILA NF-kappaB interacting lncRNA non-coding RNA RNA, long non-coding Approved 20q13.31 20q13.31 NF-kappaB interacting long non-coding RNA Long non-coding RNAs with non-systematic symbols 1992 2015-03-13 2016-12-09 2017-02-09 105416157 ENSG00000278709 OTTHUMG00000186958 AK056098 NR_131157 "25759022|26069731|28123845" NKILA HGNC:51599 +HGNC:17899 NKIRAS1 NFKB inhibitor interacting Ras like 1 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "KBRAS1|kappaB-Ras1" NFKB inhibitor interacting Ras-like protein 1 RAS type GTPase family 389 2004-03-31 2016-05-04 2016-10-05 28512 ENSG00000197885 OTTHUMG00000155605 uc003cck.4 AF229839 NM_020345 CCDS33717 Q9NYS0 10657303 MGI:1916971 RGD:1308560 604496 HGNC:17899 "ENST00000425478.7|NM_020345.4" +HGNC:17898 NKIRAS2 NFKB inhibitor interacting Ras like 2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "KBRAS2|DKFZP434N1526|kappaB-Ras2" "NFKB inhibitor interacting Ras-like protein 2|NFKB inhibitor interacting Ras-like 2" RAS type GTPase family 389 2004-03-31 2016-04-01 2016-10-05 28511 ENSG00000168256 OTTHUMG00000133503 uc002hyq.4 AF229840 NM_017595 "CCDS11415|CCDS45679|CCDS45680" Q9NYR9 10657303 MGI:1919216 RGD:1307363 604497 HGNC:17898 "ENST00000393885.9|NM_017595.6" +HGNC:24739 NKPD1 NTPase KAP family P-loop domain containing 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ33600 NTPase, KAP family P-loop domain containing 1 2004-06-04 2012-07-02 2017-01-23 2017-01-23 284353 ENSG00000179846 OTTHUMG00000160521 uc010xxi.2 AK090919 NM_198478 Q17RQ9 14702039 MGI:1916797 RGD:1591760 HGNC:24739 "ENST00000686631.1|NM_198478.4" +HGNC:19374 NKRF NFKB repressing factor protein-coding gene gene with protein product Approved Xq24 Xq24 "ITBA4|NRF" NF-kappaB repressing factor G-patch domain containing 579 2004-11-01 2008-03-26 2020-04-02 55922 ENSG00000186416 OTTHUMG00000022277 uc004err.4 AJ011812 NM_017544 O15226 10562553 MGI:1924536 RGD:6500424 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NKRF 300440 HGNC:19374 +HGNC:7833 NKTR natural killer cell triggering receptor protein-coding gene gene with protein product Approved 3p22.1 03p22.1 p104 "NK-tumor recognition protein|natural-killer cells cyclophilin-related protein|NK-TR protein" natural killer-tumor recognition sequence Cyclophilin peptidylprolyl isomerases 909 1993-03-17 2014-01-20 2014-11-19 4820 ENSG00000114857 OTTHUMG00000133037 uc003clo.4 NM_005385 CCDS2702 P30414 "8314596|8144875" MGI:97346 RGD:2321593 161565 HGNC:7833 "ENST00000232978.13|NM_005385.4" +HGNC:24975 NKX1-1 NK1 homeobox 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "HSPX153|SAX2" NK1 transcription factor related, locus 1 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2006-06-29 2007-07-09 2018-11-16 54729 ENSG00000235608 OTTHUMG00000160165 uc062ulo.1 X76978 NM_001290079 Q15270 7518789 MGI:109346 RGD:1564874 617869 8394 HGNC:24975 "ENST00000422806.2|NM_001290079.1" +HGNC:31652 NKX1-2 NK1 homeobox 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 bB238F13.2 C10orf121 "chromosome 10 open reading frame 121|NK1 transcription factor related, locus 2 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 2004-05-27 2006-06-29 2007-07-09 2018-11-16 390010 ENSG00000229544 OTTHUMG00000185174 uc010quf.3 CN285329 NM_001146340 CCDS59221 Q9UD57 10681422 MGI:104806 RGD:1306744 8395 HGNC:31652 "ENST00000451024.5|NM_001146340.3" +HGNC:11825 NKX2-1 NK2 homeobox 1 protein-coding gene gene with protein product Approved 14q13.3 14q13.3 "TTF-1|TTF1" "NKX2A|BCH|TITF1" "benign chorea|thyroid transcription factor 1" NKL subclass homeoboxes and pseudogenes 519 1992-06-12 2007-07-26 2007-07-26 2014-11-18 7080 ENSG00000136352 OTTHUMG00000140225 uc059axg.1 NM_003317 "CCDS41945|CCDS9659" P43699 1976511 MGI:108067 RGD:3866 NKX2-1 600635 8469 156077 HGNC:11825 "ENST00000354822.7|NM_001079668.3" HGNC:11825 +HGNC:40585 NKX2-1-AS1 NKX2-1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q13.3 14q13.3 NKX2-1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-08 2012-08-15 2018-10-10 100506237 ENSG00000253563 OTTHUMG00000163889 uc001wtw.2 NR_103710 30258080 NKX2-1-AS1 HGNC:40585 +HGNC:7835 NKX2-2 NK2 homeobox 2 protein-coding gene gene with protein product Approved 20p11.22 20p11.22 NKX2.2 NKX2B "NK-2 (Drosophila) homolog B|NK2 transcription factor related, locus 2 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 1992-06-12 2002-10-04 2007-07-09 2021-05-26 4821 ENSG00000125820 OTTHUMG00000170524 uc002wsi.4 AF019415 NM_002509 CCDS13145 O95096 "9703340|1346742" MGI:97347 RGD:1308443 604612 8470 HGNC:7835 "ENST00000377142.5|NM_002509.4" HGNC:7835 +HGNC:37154 NKX2-2-AS1 NKX2-2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.22 20p11.22 NKX2-2AS NKX2-2 antisense RNA NKX2-2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-08 2012-08-15 2015-07-30 100874189 ENSG00000258197 OTTHUMG00000187950 uc061vug.1 18538132 NKX2-2-AS1 +HGNC:7836 NKX2-3 NK2 homeobox 3 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "NKX2.3|CSX3|NKX4-3" NKX2C "NK-2 (Drosophila) homolog C|NK2 transcription factor related, locus 3 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 1992-06-12 2002-10-04 2011-06-01 2015-08-25 159296 ENSG00000119919 OTTHUMG00000018887 uc009xwj.4 NM_145285 CCDS41558 Q8TAU0 "1346742|9142493" MGI:97348 RGD:1308521 606727 8537 HGNC:7836 "ENST00000344586.9|NM_145285.3" +HGNC:7837 NKX2-4 NK2 homeobox 4 protein-coding gene gene with protein product Approved 20p11.22 20p11.22 NKX2.4 NKX2D "NK-2 (Drosophila) homolog D|NK2 transcription factor related, locus 4 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 1992-06-12 2002-10-04 2007-07-09 2020-04-20 644524 ENSG00000125816 OTTHUMG00000032022 uc010gcz.4 NM_033176 CCDS42855 Q9H2Z4 "1346742|10818213" MGI:97349 RGD:1304985 607808 8471 HGNC:7837 "ENST00000351817.5|NM_033176.2" +HGNC:2488 NKX2-5 NK2 homeobox 5 protein-coding gene gene with protein product Approved 5q34 05q34 "CSX1|NKX2.5|NKX4-1" tinman (Drosophila) homolog "CSX|NKX2E" "cardiac-specific homeo box|NK2 transcription factor related, locus 5 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 1995-02-07 2002-10-04 2011-06-01 2021-05-26 1482 ENSG00000183072 OTTHUMG00000130522 uc003mcm.3 AB021133 NM_001166175 "CCDS4387|CCDS54949|CCDS54950" P52952 "7665173|8900537" MGI:97350 RGD:620520 LRG_671|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_671.xml 600584 8538 123797 HGNC:2488 "ENST00000329198.5|NM_004387.4" HGNC:2488 +HGNC:32940 NKX2-6 NK2 homeobox 6 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "CSX2|NKX4-2" tinman (Drosophila) homolog NK2 transcription factor related, locus 6 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2006-06-29 2011-06-01 2021-05-26 137814 ENSG00000180053 OTTHUMG00000163867 uc011kzy.3 CN272646 NM_001136271 A6NCS4 15649947 MGI:97351 RGD:1306149 611770 8472 159562 HGNC:32940 "ENST00000325017.4|NM_001136271.3" HGNC:32940 +HGNC:16364 NKX2-8 NK2 homeobox 8 protein-coding gene gene with protein product Approved 14q13.3 14q13.3 "NKX2.8|Nkx2-9" NKX2H "NK-2 homolog H (Drosophila)|NK2 transcription factor related, locus 8 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 2002-07-08 2002-10-04 2007-07-09 2015-09-01 26257 ENSG00000136327 OTTHUMG00000028772 uc001wtx.4 NM_014360 CCDS9660 O15522 9446603 MGI:1270158 RGD:1310629 603245 8473 HGNC:16364 "ENST00000258829.6|NM_014360.4" +HGNC:7838 NKX3-1 NK3 homeobox 1 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "NKX3.1|BAPX2" NKX3A "NK homeobox (Drosophila), family 3, A|NK3 transcription factor related, locus 1 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 1997-05-09 2002-10-04 2007-07-09 2015-08-25 4824 ENSG00000167034 OTTHUMG00000097851 uc011kzx.3 NM_001256339 "CCDS59095|CCDS6042" Q99801 9226374 MGI:97352 RGD:1305369 602041 8539 HGNC:7838 "ENST00000380871.5|NM_006167.4" +HGNC:951 NKX3-2 NK3 homeobox 2 protein-coding gene gene with protein product Approved 4p15.33 04p15.33 "NKX3B|NKX3.2" BAPX1 bagpipe homeobox homolog 1 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 1997-12-23 2007-07-26 2007-07-26 2021-05-26 579 ENSG00000109705 OTTHUMG00000090657 uc003gmx.3 AF009801 NM_001189 CCDS3410 P78367 9344671 MGI:108015 RGD:1584617 602183 8556 232223 HGNC:951 "ENST00000382438.6|NM_001189.4" HGNC:951 +HGNC:7839 NKX6-1 NK6 homeobox 1 protein-coding gene gene with protein product Approved 4q21.23 04q21.23 Nkx6.1 NKX6A "NK homeobox (Drosophila), family 6, A|NK6 transcription factor related, locus 1 (Drosophila)" NKL subclass homeoboxes and pseudogenes 519 1996-10-26 2002-10-04 2007-07-09 2016-10-05 4825 ENSG00000163623 OTTHUMG00000130426 uc003hpa.2 AH007313 NM_006168 CCDS3607 P78426 9119408 MGI:1206039 RGD:69318 602563 8540 HGNC:7839 "ENST00000295886.5|NM_006168.3" +HGNC:19321 NKX6-2 NK6 homeobox 2 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "NKX6B|GTX|NKX6.1" NK6 transcription factor related, locus 2 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2002-10-03 2007-07-09 2022-01-19 84504 ENSG00000148826 OTTHUMG00000019294 uc001llr.3 AF184215 NM_177400 CCDS7670 Q9C056 11210186 MGI:1352738 RGD:1307280 605955 8541 HGNC:19321 "ENST00000368592.8|NM_177400.3" HGNC:19321 +HGNC:26328 NKX6-3 NK6 homeobox 3 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 FLJ25169 NK6 transcription factor related, locus 3 (Drosophila) NKL subclass homeoboxes and pseudogenes 519 2006-06-29 2007-07-09 2014-11-19 157848 ENSG00000165066 OTTHUMG00000164083 uc064mig.1 AK057898 NM_152568 CCDS6118 A6NJ46 16326147 MGI:1921811 RGD:1597780 610772 8474 HGNC:26328 "ENST00000518699.4|NM_001364841.2" +HGNC:19889 NLE1 notchless homolog 1 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ10458 Notchless gene homolog, (Drosophila) NLE notchless homolog (Drosophila) WD repeat domain containing 362 2005-05-24 2005-08-09 2016-05-04 2017-03-10 54475 ENSG00000073536 OTTHUMG00000132928 uc002hiy.3 NM_018096 "CCDS45647|CCDS11291" Q9NVX2 MGI:2429770 RGD:1308301 HGNC:19889 "ENST00000442241.9|NM_018096.5" +HGNC:14291 NLGN1 neuroligin 1 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 KIAA1070 Neuroligins 1583 2001-01-02 2016-10-05 22871 ENSG00000169760 OTTHUMG00000157005 uc003fio.3 AB028993 NM_014932 CCDS3222 Q8N2Q7 "10767552|10819331" MGI:2179435 RGD:621117 600568 S09.994 HGNC:14291 HGNC:14291 +HGNC:40676 NLGN1-AS1 NLGN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.31 03q26.31 NLGN1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874010 ENSG00000228213 OTTHUMG00000157016 uc062qau.1 NR_046664 NLGN1-AS1 HGNC:40676 +HGNC:14290 NLGN2 neuroligin 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KIAA1366 Neuroligins 1583 2001-01-02 2016-10-05 57555 ENSG00000169992 OTTHUMG00000108138 uc060apb.1 AB037787 NM_020795 CCDS11103 Q8NFZ4 "10767552|10819331" MGI:2681835 RGD:621118 606479 S09.995 HGNC:14290 "ENST00000302926.7|NM_020795.4" +HGNC:14289 NLGN3 neuroligin 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "HNL3|KIAA1480|ASPGX1|AUTSX1" Neuroligins 1583 2001-01-02 2021-05-26 54413 ENSG00000196338 OTTHUMG00000021790 uc004dzd.3 AB040913 NM_018977 "CCDS14407|CCDS55442|CCDS55441" Q9NZ94 "10767552|10819331" MGI:2444609 RGD:621119 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NLGN3 300336 123803 S09.987 HGNC:14289 "ENST00000358741.4|NM_181303.2" HGNC:14289 +HGNC:14287 NLGN4X neuroligin 4 X-linked protein-coding gene gene with protein product Approved Xp22.32-p22.31 Xp22.32-p22.31 "KIAA1260|NLGN|HLNX" NLGN4 neuroligin 4 Neuroligins 1583 2001-01-02 2004-05-26 2018-04-26 2021-05-26 57502 ENSG00000146938 OTTHUMG00000021093 uc004crr.5 AB033086 NM_020742 CCDS14126 Q8N0W4 "10574462|32848696" MGI:3775191 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NLGN4X 300427 123807 S09.988 HGNC:14287 "ENST00000381095.8|NM_181332.3" HGNC:14287 +HGNC:15529 NLGN4Y neuroligin 4 Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 KIAA0951 neuroligin 4, Y linked Neuroligins 1583 2002-05-22 2018-04-26 2018-04-26 22829 ENSG00000165246 OTTHUMG00000036618 uc004ftg.3 NM_014893 "CCDS56619|CCDS14788" Q8NFZ3 10231032 MGI:3775191 400028 S09.989 HGNC:15529 "ENST00000684976.1|NM_001365588.1" HGNC:15529 +HGNC:38793 NLGN4Y-AS1 NLGN4Y antisense RNA 1 non-coding RNA RNA, long non-coding Approved Yq11.221 Yq11.221 "NLGN4YAS|NLGN4Y-AS" "NLGN4Y antisense RNA (non-protein coding)|NLGN4Y antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-08-04 2010-11-25 2012-08-15 2013-09-20 100874056 ENSG00000228787 OTTHUMG00000058879 uc031tkz.1 NR_046504 NLGN4Y-AS1 HGNC:38793 +HGNC:29858 NLK nemo like kinase protein-coding gene gene with protein product Approved 17q11.2 17q11.2 nemo-like kinase 2004-02-19 2016-04-01 2016-04-01 51701 ENSG00000087095 OTTHUMG00000132451 uc010crj.4 AF197898 NM_016231 CCDS11224 Q9UBE8 "9448268|10863097" MGI:1201387 RGD:1561602 609476 objectId:2125 HGNC:29858 "ENST00000407008.8|NM_016231.5" +HGNC:16058 NLN neurolysin protein-coding gene gene with protein product Approved 5q12.3 05q12.3 KIAA1226 neurotensin endopeptidase AGTBP "angiotensin binding protein|neurolysin (metallopeptidase M3 family)" M3 metallopeptidase family 1438 2001-07-26 2016-01-27 2016-01-27 57486 ENSG00000123213 OTTHUMG00000097803 uc003juf.3 AJ300837 NM_020726 CCDS3989 Q9BYT8 10574462 MGI:1923055 RGD:621518 611530 3.4.24.16 HGNC:16058 "ENST00000380985.10|NM_020726.5" +HGNC:29889 NLRC3 NLR family CARD domain containing 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CLR16.2|FLJ00348|NOD3" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3|NOD-like receptor C3" NLR family 666 2006-12-08 2016-06-01 2016-07-15 197358 ENSG00000167984 OTTHUMG00000177561 uc032dpc.2 BK001112 NM_178844 CCDS73817 Q7RTR2 "15705585|12766759|25277106" MGI:2444070 RGD:1304902 615648 objectId:1764 HGNC:29889 "ENST00000359128.10|NM_178844.4" +HGNC:16412 NLRC4 NLR family CARD domain containing 4 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "CLAN1|ipaf|CLANA|CLANB|CLANC|CLAND|CLR2.1|CLAN" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4|NOD-like receptor C4" CARD12 caspase recruitment domain family, member 12 "NLR family|Caspase recruitment domain containing" "666|959" 2002-09-19 2006-12-08 2016-06-01 2021-05-26 58484 ENSG00000091106 OTTHUMG00000152107 uc061hxs.1 AF376061 NM_021209 "CCDS77400|CCDS33174" Q9NPP4 11374873 MGI:3036243 RGD:1309831 LRG_1317|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1317.xml 606831 444736 objectId:1782 HGNC:16412 "ENST00000402280.6|NM_001199138.2" HGNC:16412 +HGNC:29933 NLRC5 NLR family CARD domain containing 5 protein-coding gene gene with protein product Approved 16q13 16q13 "NOD27|CLR16.1|FLJ21709" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5|NOD-like receptor C5" NLR family 666 2006-12-08 2016-06-01 2016-07-15 84166 ENSG00000140853 OTTHUMG00000133470 uc021tit.2 AF389420 NM_032206 "CCDS10773|CCDS81985" Q86WI3 "12615073|24815518|23175229" MGI:3612191 RGD:1309166 613537 objectId:1765 HGNC:29933 "ENST00000688547.1|NM_001384950.1" +HGNC:14374 NLRP1 NLR family pyrin domain containing 1 protein-coding gene gene with protein product Approved 17p13 17p13 "KIAA0926|DKFZp586O1822|CARD7|NAC|CLR17.1|DEFCAP|VAMAS1" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1 "NALP1|SLEV1" "NACHT, leucine rich repeat and PYD (pyrin domain) containing 1|systemic lupus erythematosus, vitiligo-related 1" "NLR family|Caspase recruitment domain containing|Pyrin domain containing" "666|959|994" 2003-10-28 2006-12-08 2016-06-01 2021-05-26 22861 ENSG00000091592 OTTHUMG00000132419 uc060acy.1 AB023143 NM_033004 "CCDS42244|CCDS58508|CCDS32537|CCDS42246|CCDS42245" Q9C000 "8781126|12563287|17377159" MGI:2684861 RGD:1310963 606636 139184 S79.A05 objectId:1768 HGNC:14374 "ENST00000572272.6|NM_033004.4" HGNC:14374 +HGNC:22948 NLRP2 NLR family pyrin domain containing 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ20510|PYPAF2|NBS1|PAN1|CLR19.9" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2 NALP2 NACHT, leucine rich repeat and PYD containing 2 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2016-06-01 55655 ENSG00000022556 OTTHUMG00000167763 uc021vbq.2 AK000517 NM_017852 "CCDS54318|CCDS12913|CCDS54319|CCDS86807" Q9NX02 "12563287|11270363" MGI:3041206 RGD:1589140 609364 objectId:1769 HGNC:22948 "ENST00000448584.7|NM_017852.5" +HGNC:29887 NLRP2B NLR family pyrin domain containing 2B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "NOD24|NALP2P|CLRX.1|POP4" NLRP2P NLR family, pyrin domain containing 2 pseudogene "NLR family|Pyrin domain containing" "666|994" 2006-12-08 2016-06-01 2016-06-01 2021-10-06 286430 ENSG00000215174 OTTHUMG00000021686 uc284rbm.1 BK001116 NM_001319967 CCDS83476 P0DMW2 "12766759|24871464" PGOHUM00000304657 HGNC:29887 "ENST00000434992.1|NM_001319967.1" +HGNC:16400 NLRP3 NLR family pyrin domain containing 3 protein-coding gene gene with protein product Approved 1q44 01q44 "AGTAVPRL|AII|AVP|FCAS|FCU|NALP3|PYPAF1|MWS|CLR1.1" "Cryopyrin|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3" "C1orf7|CIAS1|DFNA34" "cold autoinflammatory syndrome 1|deafness, autosomal dominant 34" "NLR family|Pyrin domain containing" "666|994" 2001-08-28 2006-12-08 2016-06-01 2021-05-26 114548 ENSG00000162711 OTTHUMG00000040647 uc001icr.4 AF054176 NM_004895 CCDS1632 Q96P20 10741953 MGI:2653833 RGD:1308314 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_197|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_197.xml" 606416 123821 objectId:1770 HGNC:16400 "ENST00000336119.8|NM_001243133.2" HGNC:16400 +HGNC:29886 NLRP3P1 NLR family pyrin domain containing 3 pseudogene 1 pseudogene pseudogene Approved Xq22.3 Xq22.3 NOD13 NLRP3P NLR family, pyrin domain containing 3 pseudogene "NLR family|Pyrin domain containing" "666|994" 2006-12-08 2016-02-29 2016-06-01 2016-06-01 347402 ENSG00000277883 OTTHUMG00000188083 BK001115 NG_002753 12766759 PGOHUM00000305245 HGNC:29886 +HGNC:22943 NLRP4 NLR family pyrin domain containing 4 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "PYPAF4|FLJ32126|PAN2|RNH2|CLR19.5|CT58" "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4|cancer/testis antigen 58" NALP4 NACHT, leucine rich repeat and PYD containing 4 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2019-01-31 147945 ENSG00000160505 OTTHUMG00000181734 uc002qmd.5 AF479747 NM_134444 CCDS12936 Q96MN2 "12563287|12019269" "MGI:1890518|MGI:2145528|MGI:2443697|MGI:3056570|MGI:3056600" RGD:1563529 609645 objectId:1771 HGNC:22943 "ENST00000301295.11|NM_134444.5" +HGNC:21269 NLRP5 NLR family pyrin domain containing 5 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "PYPAF8|MATER|PAN11|CLR19.8" "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5|maternal antigen that embryos require" NALP5 NACHT, leucine rich repeat and PYD containing 5 "NLR family|Pyrin domain containing|Subcortical maternal complex" "666|994|1684" 2003-10-28 2006-12-08 2016-06-01 2021-05-26 126206 ENSG00000171487 OTTHUMG00000149887 uc002qmj.4 AY154460 NM_153447 CCDS12938 P59047 "12563287|11925379" MGI:1345193 RGD:1307446 609658 objectId:1772 HGNC:21269 "ENST00000390649.8|NM_153447.4" +HGNC:22944 NLRP6 NLR family pyrin domain containing 6 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "PYPAF5|PAN3|CLR11.4" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6 NALP6 NACHT, leucine rich repeat and PYD containing 6 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2016-10-05 171389 ENSG00000174885 OTTHUMG00000119070 uc010qvs.4 AF479748 NM_138329 "CCDS7693|CCDS60680" P59044 "12563287|12019269" MGI:2141990 RGD:708549 609650 objectId:1773 HGNC:22944 "ENST00000534750.6|NM_001276700.2" +HGNC:22947 NLRP7 NLR family pyrin domain containing 7 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "PYPAF3|NOD12|PAN7|CLR19.4" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 NALP7 NACHT, leucine rich repeat and PYD containing 7 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2021-05-26 199713 ENSG00000167634 OTTHUMG00000180428 uc061ctx.1 AF464765 NM_139176 "CCDS12912|CCDS33109|CCDS46183" Q8WX94 "12563287|12019269" MGI:3041206 INFEVERS: The repertory of RMHs sequence variants|http://fmf.igh.cnrs.fr/infevers/ 609661 123834 objectId:1774 HGNC:22947 HGNC:22947 +HGNC:55131 NLRP7P1 NLRP7 pseudogene 1 pseudogene pseudogene Approved Xq26.2 Xq26.2 2020-07-03 2020-07-03 100421039 ENSG00000228450 NG_02676 +HGNC:22940 NLRP8 NLR family pyrin domain containing 8 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "NOD16|PAN4|CLR19.2" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8 NALP8 NACHT, leucine rich repeat and PYD containing 8 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2020-04-01 126205 ENSG00000179709 OTTHUMG00000181754 uc002qmh.3 AY154463 NM_176811 "CCDS82402|CCDS12937" Q86W28 12563287 609659 objectId:1775 HGNC:22940 "ENST00000291971.7|NM_176811.2" +HGNC:22941 NLRP9 NLR family pyrin domain containing 9 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "NOD6|PAN12|CLR19.1" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9 NALP9 NACHT, leucine rich repeat and PYD containing 9 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2020-04-01 338321 ENSG00000185792 OTTHUMG00000180920 uc002qly.3 AY154464 NM_176820 CCDS12934 Q7RTR0 12563287 "MGI:2675292|MGI:2675377|MGI:3028627" RGD:1308981 609663 objectId:1776 HGNC:22941 "ENST00000332836.7|NM_176820.4" +HGNC:29888 NLRP9P1 NLR family pyrin domain containing 9 pseudogene 1 pseudogene pseudogene Approved 12q24.33 12q24.33 NOD25 NLRP9P NLR family, pyrin domain containing 9 pseudogene "NLR family|Pyrin domain containing" "666|994" 2006-12-08 2016-02-29 2016-06-01 2016-06-01 347933 ENSG00000256581 OTTHUMG00000168439 BK001117 NG_002754 12766759 PGOHUM00000291835 HGNC:29888 +HGNC:21464 NLRP10 NLR family pyrin domain containing 10 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "NOD8|PAN5|Pynod|CLR11.1" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10 NALP10 NACHT, leucine rich repeat and PYD containing 10 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2020-04-01 338322 ENSG00000182261 OTTHUMG00000165673 uc001mfv.2 AY154465 NM_176821 CCDS7784 Q86W26 12563287 MGI:2444084 RGD:1307387 609662 objectId:1777 HGNC:21464 "ENST00000691676.1|NM_001391958.1" +HGNC:22945 NLRP11 NLR family pyrin domain containing 11 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "PYPAF6|NOD17|PAN10|CLR19.6" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11 NALP11 NACHT, leucine rich repeat and PYD containing 11 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2019-01-31 204801 ENSG00000179873 OTTHUMG00000180921 uc061dcz.1 AY095145 NM_145007 "CCDS12935|CCDS74458" P59045 "12563287|12019269" 609664 objectId:1778 HGNC:22945 HGNC:22945 +HGNC:22938 NLRP12 NLR family pyrin domain containing 12 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "RNO2|PYPAF7|Monarch1|PAN6|CLR19.3" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12 NALP12 NACHT, leucine rich repeat and PYD containing 12 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2021-04-13 91662 ENSG00000142405 OTTHUMG00000060776 uc002qch.6 AY095146 NM_144687 "CCDS62784|CCDS12864|CCDS62785" P59046 "12563287|12019269" MGI:2676630 RGD:1309415 LRG_181|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_181.xml 609648 138361 objectId:1779 HGNC:22938 "ENST00000324134.11|NM_144687.4" HGNC:22938 +HGNC:22937 NLRP13 NLR family pyrin domain containing 13 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "NOD14|PAN13|CLR19.7" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13 NALP13 NACHT, leucine rich repeat and PYD containing 13 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2016-06-01 126204 ENSG00000173572 OTTHUMG00000167839 uc010ygg.3 AY154468 NM_176810 "CCDS33119|CCDS82401" Q86W25 12563287 609660 objectId:1780 HGNC:22937 "ENST00000342929.4|NM_176810.2" +HGNC:22939 NLRP14 NLR family pyrin domain containing 14 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "NOD5|GC-LRR|Nalp-iota|PAN8|CLR11.2" nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14 NALP14 NACHT, leucine rich repeat and PYD containing 14 "NLR family|Pyrin domain containing" "666|994" 2003-10-28 2006-12-08 2016-06-01 2020-04-01 338323 ENSG00000158077 OTTHUMG00000165508 uc001mfb.2 BK001107 NM_176822 CCDS7776 Q86W24 12563287 MGI:1924108 RGD:1598218 609665 objectId:1781 HGNC:22939 "ENST00000299481.5|NM_176822.4" +HGNC:29890 NLRX1 NLR family member X1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "NOD9|CLR11.3" "nucleotide-binding oligomerization domain, leucine rich repeat containing X1|NOD-like receptor X1|NLR family, X1" NLR family 666 2006-12-08 2014-11-19 79671 ENSG00000160703 OTTHUMG00000154476 uc031yhm.2 AB094095 NM_170722 CCDS8416 Q86UT6 12766759 MGI:2429611 RGD:1311293 611947 objectId:1766 HGNC:29890 "ENST00000409109.6|NM_001282144.2" +HGNC:7842 NMB neuromedin B protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "MGC2277|MGC3936|MGC17211" 1989-05-11 2016-10-05 4828 ENSG00000197696 OTTHUMG00000148666 uc002bkz.4 NM_021077 "CCDS42076|CCDS10332" P08949 2458345 MGI:1915289 RGD:1562710 162340 ligandId:613 HGNC:7842 "ENST00000360476.8|NM_021077.4" +HGNC:7843 NMBR neuromedin B receptor protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "BB1|BB1R|BRS1" bombesin receptor 1 Bombesin receptors 222 1991-08-30 2021-04-21 4829 ENSG00000135577 OTTHUMG00000015704 uc003qiu.3 NM_001324307 CCDS5196 P28336 MGI:1100525 RGD:3181 162341 objectId:38 HGNC:7843 "ENST00000258042.2|NM_002511.4" +HGNC:40406 NMBR-AS1 NMBR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.1 06q24.1 RP11-137J7.2 Antisense RNAs 1987 2017-09-28 2017-09-28 111216274 ENSG00000236822 OTTHUMG00000015705 28942040 +HGNC:24250 NMD3 NMD3 ribosome export adaptor protein-coding gene gene with protein product Approved 3q26.1 03q26.1 CGI-07 NMD3 homolog (S. cerevisiae) 2005-01-26 2013-08-06 2014-11-18 51068 ENSG00000169251 OTTHUMG00000159063 uc062ppw.1 BC013317 NM_015938 "CCDS3194|CCDS82870" Q96D46 "10810093|23782956|12773398" MGI:2140103 RGD:1308468 611021 HGNC:24250 "ENST00000351193.7|NM_015938.5" +HGNC:22672 NMD3P1 NMD3 ribosome export adaptor pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 NMD3P "nonsense-mediated mRNA 3 homolog (S. cerevisiae) pseudogene|nonsense-mediated mRNA 3 homolog (S. cerevisiae) pseudogene 1|NMD3 homolog (S. cerevisiae) pseudogene 1" 2005-01-26 2010-02-26 2013-08-06 2020-04-20 441238 ENSG00000226342 OTTHUMG00000156544 NG_016698 HGNC:22672 +HGNC:37820 NMD3P2 NMD3 ribosome export adaptor pseudogene 2 pseudogene pseudogene Approved 7p11.2 07p11.2 "nonsense-mediated mRNA 3 homolog (S. cerevisiae) pseudogene 2|NMD3 homolog (S. cerevisiae) pseudogene 2" 2010-02-26 2013-08-06 2014-11-18 100286929 ENSG00000231504 OTTHUMG00000156288 NG_022534 PGOHUM00000232726 HGNC:37820 +HGNC:7849 NME1 NME/NM23 nucleoside diphosphate kinase 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "NM23|NM23-H1|NDPKA" non-metastatic cells 1, protein (NM23A) expressed in "NME/NM23 family|SET complex" "961|1659" 1991-07-26 2012-05-18 2016-07-15 4830 ENSG00000239672 OTTHUMG00000137474 uc002iti.3 "AL360191|X17620" NM_000269 "CCDS11578|CCDS11579" P15531 "8270257|19852809" MGI:97355 RGD:70497 156490 2.7.4.6 HGNC:7849 "ENST00000393196.8|NM_000269.3" +HGNC:33531 NME1-NME2 NME1-NME2 readthrough other readthrough Approved 17q21.33 17q21.33 "NM23-LV|NMELV" 2007-07-31 2015-08-17 654364 ENSG00000011052 OTTHUMG00000137475 uc002itj.4 DQ109675 NM_001018136 CCDS32682 16442775 MGI:97356 HGNC:33531 +HGNC:39904 NME1P1 NME/NM23 nucleoside diphosphate kinase 1 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 non-metastatic cells 1, protein (NM23A) expressed in, pseudogene 1 2011-05-18 2012-05-18 2012-05-18 100874501 ENSG00000237175 OTTHUMG00000016549 NG_032368 PGOHUM00000248324 HGNC:39904 +HGNC:7850 NME2 NME/NM23 nucleoside diphosphate kinase 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "NM23-H2|NDPKB" non-metastatic cells 2, protein (NM23B) expressed in NME/NM23 family 961 1991-07-26 2012-05-18 2016-07-15 4831 ENSG00000243678 OTTHUMG00000154062 uc002itl.3 X58965 NM_002512 "CCDS11580|CCDS74107" P22392 "1988104|19852809" MGI:97356 RGD:619877 156491 2.7.4.6 HGNC:7850 "ENST00000512737.6|NM_002512.4" +HGNC:31358 NME2P1 NME2 pseudogene 1 pseudogene pseudogene Approved 12q24.23 12q24.23 "non-metastatic cells 2, protein (NM23B) expressed in, pseudogene 1|NME/NM23 nucleoside diphosphate kinase 2 pseudogene 1" 2004-03-11 2020-01-08 2020-01-08 283458 ENSG00000123009 OTTHUMG00000168971 NR_001577 O60361 HGNC:31358 +HGNC:54766 NME2P2 NME2 pseudogene 2 pseudogene pseudogene Approved 2p16.3 02p16.3 2020-01-08 2020-01-08 100289315 ENSG00000224443 NG_021562 +HGNC:54767 NME2P3 NME2 pseudogene 3 pseudogene pseudogene Approved 9q22.33 09q22.33 2020-01-08 2020-01-08 100288125 ENSG00000229338 NG_027863 +HGNC:7851 NME3 NME/NM23 nucleoside diphosphate kinase 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "DR-nm23|NM23-H3|NDPKC" non-metastatic cells 3, protein expressed in NME/NM23 family 961 1996-12-19 2012-05-18 2016-10-05 4832 ENSG00000103024 OTTHUMG00000128635 uc002cmm.4 U29656 NM_002513 CCDS10443 Q13232 "9067290|19852809" MGI:1930182 RGD:619879 601817 2.7.4.6 HGNC:7851 "ENST00000219302.8|NM_002513.3" +HGNC:7852 NME4 NME/NM23 nucleoside diphosphate kinase 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "nm23-H4|NM23H4|NDPKD" non-metastatic cells 4, protein expressed in NME/NM23 family 961 1996-12-19 2012-05-18 2016-07-15 4833 ENSG00000103202 OTTHUMG00000047995 uc002cgz.4 Y07604 NM_005009 "CCDS10408|CCDS73797|CCDS66886" O00746 "9099850|19852809" MGI:1931148 RGD:1591334 601818 2.7.4.6 HGNC:7852 "ENST00000219479.7|NM_005009.3" +HGNC:7853 NME5 NME/NM23 family member 5 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "nm23-H5|RSPH23" radial spoke 23 homolog (Chlamydomonas) non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) NME/NM23 family 961 1998-02-26 2012-05-18 2014-11-19 8382 ENSG00000112981 OTTHUMG00000129207 uc003lce.4 Y14992 NM_003551 CCDS4197 P56597 "9742940|19852809" MGI:1922783 RGD:1583004 603575 HGNC:7853 "ENST00000265191.4|NM_003551.3" +HGNC:20567 NME6 NME/NM23 nucleoside diphosphate kinase 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "NM23-H6|IPIA-ALPHA" non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) NME/NM23 family 961 2003-02-25 2012-05-18 2016-07-15 10201 ENSG00000172113 OTTHUMG00000133531 uc062jgf.1 AF051941 NM_005793 "CCDS2763|CCDS82768|CCDS82767|CCDS77734|CCDS77733" O75414 "10453732|19852809" MGI:1861676 RGD:61896 608294 2.7.4.6 HGNC:20567 "ENST00000442597.6|NM_001308426.2" +HGNC:20461 NME7 NME/NM23 family member 7 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "FLJ37194|NM23-H7|CFAP67" cilia and flagella associated protein 67 non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) "NME/NM23 family|Cilia and flagella associated" "961|1491" 2003-02-24 2012-05-18 2016-07-15 29922 ENSG00000143156 OTTHUMG00000034586 uc001gfu.5 AF153191 NM_013330 "CCDS1277|CCDS44274" Q9Y5B8 19852809 MGI:2449121 RGD:619880 613465 469734 2.7.4.6 HGNC:20461 "ENST00000367811.8|NM_013330.5" HGNC:20461 +HGNC:16473 NME8 NME/NM23 family member 8 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "CILD6|SPTRX2|NM23-H8|DNAI8" sperm-specific thioredoxin 2 TXNDC3 thioredoxin domain containing 3 (spermatozoa) "NME/NM23 family|Thioredoxin domain containing |Dyneins, axonemal outer arm complex subunits" "961|1883|2031" 2002-11-11 2012-05-18 2012-05-18 2021-09-13 51314 ENSG00000086288 OTTHUMG00000023716 uc003tfn.4 AF202051 NM_016616 CCDS5452 Q8N427 "11737268|11768308|19852809" MGI:1920662 RGD:735069 607421 138359 HGNC:16473 "ENST00000199447.9|NM_016616.5" HGNC:16473 +HGNC:21343 NME9 NME/NM23 family member 9 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "TXL-2|NM23-H9" TXNDC6 "thioredoxin domain containing 6|NME gene family member 9|NME family member 9" "NME/NM23 family|Thioredoxin domain containing " "961|1883" 2004-05-12 2011-08-24 2012-05-18 2015-09-01 347736 ENSG00000181322 OTTHUMG00000159823 uc003esg.4 AF196568 NM_178130 "CCDS87141|CCDS87142|CCDS3099" Q86XW9 "12569107|19852809" MGI:4359686 RGD:1564871 618584 HGNC:21343 "ENST00000333911.9|NM_001349018.2" +HGNC:7854 NMI N-myc and STAT interactor protein-coding gene gene with protein product Approved 2q23.3 02q23.3 N-myc (and STAT) interactor 1999-02-18 2015-11-18 2016-10-05 9111 ENSG00000123609 OTTHUMG00000131867 uc002txi.3 U32849 NM_004688 CCDS2192 Q13287 "8668343|9989503" MGI:1928368 RGD:1311721 603525 HGNC:7854 "ENST00000243346.10|NM_004688.3" +HGNC:17877 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "NMNAT|PNAT1" nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 LCA9 "nicotinamide nucleotide adenylyltransferase|Leber congenital amaurosis 9|Leber's congenital amaurosis 9" MicroRNA protein coding host genes 1691 2002-02-19 2003-05-02 2003-04-30 2021-05-26 64802 ENSG00000173614 OTTHUMG00000001799 uc001aqp.3 AF312734 NM_001297778 "CCDS108|CCDS72698" Q9HAN9 "11248244|11027696|22842227" MGI:1913704 RGD:1310996 608700 310793 2.7.7.1 HGNC:17877 "ENST00000377205.6|NM_022787.4" HGNC:17877 +HGNC:20024 NMNAT1P1 NMNAT1 pseudogene 1 pseudogene pseudogene Approved 14q31.1 14q31.1 NMNATP nicotinamide nucleotide adenylyltransferase pseudogene 2003-01-13 2013-09-20 2013-09-20 2014-11-19 326607 ENSG00000259167 OTTHUMG00000171431 NG_009206 PGOHUM00000248242 HGNC:20024 +HGNC:49164 NMNAT1P2 NMNAT1 pseudogene 2 pseudogene pseudogene Approved 1q23.3 01q23.3 2013-09-20 2013-09-20 100129160 ENSG00000225719 OTTHUMG00000034278 NG_022814 PGOHUM00000245053 HGNC:49164 +HGNC:49165 NMNAT1P3 NMNAT1 pseudogene 3 pseudogene pseudogene Approved 3q28 03q28 2013-09-20 2013-09-20 391603 ENSG00000238077 OTTHUMG00000156232 NG_022286 PGOHUM00000238298 HGNC:49165 +HGNC:49166 NMNAT1P4 NMNAT1 pseudogene 4 pseudogene pseudogene Approved 4q31.21 04q31.21 2013-09-20 2013-09-20 100132841 ENSG00000248745 OTTHUMG00000161593 NG_022084 PGOHUM00000246097 HGNC:49166 +HGNC:49167 NMNAT1P5 NMNAT1 pseudogene 5 pseudogene pseudogene Approved 15q22.2 15q22.2 2013-09-20 2013-09-20 100129256 ENSG00000259573 OTTHUMG00000172010 NG_022131 PGOHUM00000247137 HGNC:49167 +HGNC:16789 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "KIAA0479|PNAT2" C1orf15 chromosome 1 open reading frame 15 2001-10-08 2003-05-02 2003-04-30 2016-10-05 23057 ENSG00000157064 OTTHUMG00000035519 uc001gqc.3 AF288395 NM_015039 "CCDS1354|CCDS1353" Q9BZQ4 "11318611|12359228" MGI:2444155 RGD:1307331 608701 HGNC:16789 "ENST00000287713.7|NM_015039.4" +HGNC:20989 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 protein-coding gene gene with protein product Approved 3q23 03q23 PNAT3 2003-04-30 2015-09-01 349565 ENSG00000163864 OTTHUMG00000159951 uc062ojj.1 AF345564 NM_178177 "CCDS82846|CCDS3111|CCDS56282|CCDS87147|CCDS87145" Q96T66 12574164 MGI:1921330 RGD:1309140 608702 HGNC:20989 "ENST00000643695.2|NM_001320510.2" +HGNC:24987 NMRAL1 NmrA like redox sensor 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ25918|HSCARG|SDR48A1" short chain dehydrogenase/reductase family 48A, member 1 NmrA-like family domain containing 1 Short chain dehydrogenase/reductase superfamily 743 2006-05-10 2016-07-15 2016-07-15 57407 ENSG00000153406 OTTHUMG00000129468 uc059qfd.1 AF225419 NM_020677 CCDS10516 Q9HBL8 "18263583|19027726" MGI:1915074 RGD:1311451 HGNC:24987 "ENST00000283429.11|NM_020677.6" +HGNC:52332 NMRAL2P NmrA like redox sensor 2, pseudogene pseudogene pseudogene Approved 3q27.2 03q27.2 LOC344887 NMRAL1P1 NmrA like redox sensor 1 pseudogene 1 2016-07-22 2016-09-26 2016-09-26 2020-11-09 344887 ENSG00000171658 OTTHUMG00000156640 NR_033752 "28245089|33126057" PGOHUM00000299687 HGNC:52332 +HGNC:26057 NMRK1 nicotinamide riboside kinase 1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "FLJ20559|NRK1|bA235O14.2" ribosylnicotinamide kinase C9orf95 chromosome 9 open reading frame 95 2004-03-11 2012-03-30 2012-03-30 2016-10-05 54981 ENSG00000106733 OTTHUMG00000020034 uc004ajr.5 AK097144 NM_017881 "CCDS47981|CCDS6650|CCDS83374" Q9NWW6 15137942 MGI:2147434 RGD:1564687 608704 2.7.1.22 HGNC:26057 "ENST00000361092.9|NM_017881.3" HGNC:26057 +HGNC:17871 NMRK2 nicotinamide riboside kinase 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MIBP|NRK2" "muscle-specific beta 1 integrin binding protein|nicotinamide riboside kinase 2" ITGB1BP3 integrin beta 1 binding protein 3 2003-12-15 2012-05-31 2012-05-31 2014-11-19 27231 ENSG00000077009 OTTHUMG00000181758 uc002lyz.4 AF190819 "NM_014446|NM_170678" "CCDS74259|CCDS12115" Q9NPI5 "10613898|15137942" MGI:1916814 RGD:6486791 608705 HGNC:17871 "ENST00000168977.7|NM_170678.3" +HGNC:32203 NMS neuromedin S protein-coding gene gene with protein product Approved 2q11.2 02q11.2 prepro-NMS Neuropeptides 1902 2005-08-16 2014-11-19 129521 ENSG00000204640 OTTHUMG00000153142 uc002tan.1 AB164464 NM_001011717 CCDS33259 Q5H8A3 15635449 MGI:3583618 RGD:1359122 619337 ligandId:1468 HGNC:32203 "ENST00000376865.1|NM_001011717.1" +HGNC:7857 NMT1 N-myristoyltransferase 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 NMT "alternative, short form NMT-S|myristoyl-CoA:protein N-myristoyltransferase|long form, NMT-L" 1993-09-10 2012-10-02 4836 ENSG00000136448 OTTHUMG00000180003 uc002ihz.4 NM_021079 CCDS11494 P30419 1570339 MGI:102579 RGD:628642 160993 HGNC:7857 "ENST00000258960.7|NM_021079.5" +HGNC:7858 NMT2 N-myristoyltransferase 2 protein-coding gene gene with protein product Approved 10p13 10p13 1999-04-07 2014-11-19 9397 ENSG00000152465 OTTHUMG00000017723 uc001inz.2 AF043325 NM_004808 "CCDS76284|CCDS7109" O60551 9506952 MGI:1202298 RGD:1303175 603801 HGNC:7858 "ENST00000378165.9|NM_004808.3" +HGNC:34892 NMTRL-TAA1-1 nuclear-encoded mitochondrial tRNA-Leu (TAA) 1-1 non-coding RNA RNA, transfer Approved 4q32.1 04q32.1 nmt-tRNA-Leu-TAA-1-1 TRNAL31 "transfer RNA leucine 31 (anticodon UAA)|nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 1-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189325 HG984162 +HGNC:35097 NMTRL-TAA2-1 nuclear-encoded mitochondrial tRNA-Leu (TAA) 2-1 non-coding RNA RNA, transfer Approved 2q14.1 02q14.1 nmt-tRNA-Leu-TAA-2-1 TRNAL46P "transfer RNA leucine 46 (anticodon UAA) pseudogene|nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 2-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189522 HG984163 NG_008580 HGNC:35097 +HGNC:35095 NMTRL-TAA3-1 nuclear-encoded mitochondrial tRNA-Leu (TAA) 3-1 non-coding RNA RNA, transfer Approved 1q43 01q43 nmt-tRNA-Leu-TAA-3-1 TRNAL45P "transfer RNA leucine 45 (anticodon UAA) pseudogene|nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 3-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189520 HG984164 NG_008578 HGNC:35095 +HGNC:34945 NMTRL-TAA4-1 nuclear-encoded mitochondrial tRNA-Leu (TAA) 4-1 non-coding RNA RNA, transfer Approved Xp11.21 Xp11.21 nmt-tRNA-Leu-TAA-4-1 TRNAL37 "transfer RNA leucine 37 (anticodon UAA)|nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 4-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189377 HG984165 +HGNC:35038 NMTRL-TAA5-1 nuclear-encoded mitochondrial tRNA-Leu (TAA) 5-1 non-coding RNA RNA, transfer Approved 20q13.31 20q13.31 nmt-tRNA-Leu-TAA-5-1 TRNAL42P "transfer RNA leucine 42 (anticodon UAA) pseudogene|nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 5-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189466 HG984166 NG_008524 HGNC:35038 +HGNC:35027 NMTRL-TAA6-1 nuclear-encoded mitochondrial tRNA-Leu (TAA) 6-1 non-coding RNA RNA, transfer Approved 8q11.1 08q11.1 nmt-tRNA-Leu-TAA-6-1 TRNAL41P "transfer RNA leucine 41 (anticodon UAA) pseudogene|transfer RNA-Leu (TAA) 6-1|nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 6-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189456 HG984167 NG_008513 HGNC:35027 +HGNC:35035 NMTRP-TGG1-1 nuclear-encoded mitochondrial tRNA-Pro (TGG) 1-1 non-coding RNA RNA, transfer Approved 1q43 01q43 nmt-tRNA-Pro-TGG-1-1 TRNAP23P "transfer RNA proline 23 (anticodon UGG) pseudogene|nuclear-encoded mitochondrial transfer RNA-Pro (TGG) 1-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189463 HG984168 NG_008520 HGNC:35035 +HGNC:35033 NMTRQ-CTG1-1 nuclear-encoded mitochondrial tRNA-Gln (CTG) 1-1 non-coding RNA RNA, transfer Approved 10p12.31 10p12.31 nmt-tRNA-Gln-CTG-1-1 TRNAQ38P "transfer RNA glutamine 38 (anticodon CUG) pseudogene|nuclear-encoded mitochondrial transfer RNA-Gln (CTG) 1-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189461 HG984146 NG_008518 HGNC:35033 +HGNC:35048 NMTRQ-TTG1-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 1-1 non-coding RNA RNA, transfer Approved Xp11.21 Xp11.21 nmt-tRNA-Gln-TTG-1-1 TRNAQ40P "transfer RNA glutamine 40 (anticodon UUG) pseudogene|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 1-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189475 HG984147 NG_008533 HGNC:35048 +HGNC:35091 NMTRQ-TTG2-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 2-1 non-coding RNA RNA, transfer Approved 7q34 07q34 nmt-tRNA-Gln-TTG-2-1 TRNAQ48P "transfer RNA glutamine 48 (anticodon UUG) pseudogene|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 2-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189516 HG984148 NG_008574 HGNC:35091 +HGNC:34778 NMTRQ-TTG3-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 3-1 non-coding RNA RNA, transfer Approved 2q14.1 02q14.1 nmt-tRNA-Gln-TTG-3-1 TRNAQ18 "transfer RNA glutamine 18 (anticodon UUG)|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 3-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189215 HG984149 +HGNC:35062 NMTRQ-TTG4-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 4-1 non-coding RNA RNA, transfer Approved 3q13.12 03q13.12 nmt-tRNA-Gln-TTG-4-1 TRNAQ42P "transfer RNA glutamine 42 (anticodon UUG) pseudogene|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 4-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189489 HG984150 NG_008547 HGNC:35062 +HGNC:34965 NMTRQ-TTG5-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 5-1 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 nmt-tRNA-Gln-TTG-5-1 TRNAQ31 "transfer RNA glutamine 31 (anticodon UUG)|transfer RNA-Gln (TTG) 5-1|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 5-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189397 HG984151 +HGNC:35085 NMTRQ-TTG6-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 6-1 non-coding RNA RNA, transfer Approved 12q13.12 12q13.12 nmt-tRNA-Gln-TTG-6-1 TRNAQ47P "transfer RNA glutamine 47 (anticodon UUG) pseudogene|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 6-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189510 HG984152 NG_008568 HGNC:35085 +HGNC:35015 NMTRQ-TTG7-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 7-1 non-coding RNA RNA, transfer Approved 2q21.1 02q21.1 nmt-tRNA-Gln-TTG-7-1 TRNAQ34P "transfer RNA glutamine 34 (anticodon UUG) pseudogene|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 7-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189445 HG984153 NG_008501 HGNC:35015 +HGNC:35018 NMTRQ-TTG8-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 8-1 non-coding RNA RNA, transfer Approved Yp11.2 Yp11.2 nmt-tRNA-Gln-TTG-8-1 TRNAQ35P "transfer RNA glutamine 35 (anticodon UUG) pseudogene|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 8-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189448 HG984154 NG_008504 HGNC:35018 +HGNC:35022 NMTRQ-TTG9-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 9-1 non-coding RNA RNA, transfer Approved 2q21.1 02q21.1 nmt-tRNA-Gln-TTG-9-1 TRNAQ36P "transfer RNA glutamine 36 (anticodon UUG) pseudogene|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 9-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189451 HG984155 NG_008507 HGNC:35022 +HGNC:35099 NMTRQ-TTG10-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 10-1 non-coding RNA RNA, transfer Approved 13q13.3 13q13.3 nmt-tRNA-Gln-TTG-10-1 TRNAQ50P "transfer RNA glutamine 50 (anticodon UUG) pseudogene|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 10-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189524 HG984156 NG_008582 HGNC:35099 +HGNC:35076 NMTRQ-TTG11-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 11-1 non-coding RNA RNA, transfer Approved 8p12 08p12 nmt-tRNA-Gln-TTG-11-1 TRNAQ43P "transfer RNA glutamine 43 (anticodon UUG) pseudogene|transfer RNA-Gln (TTG) 11-1|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 11-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189501 HG984157 NG_008559 HGNC:35076 +HGNC:35051 NMTRQ-TTG12-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 12-1 non-coding RNA RNA, transfer Approved 17p11.2 17p11.2 nmt-tRNA-Gln-TTG-12-1 TRNAQ41P "transfer RNA glutamine 41 (anticodon UUG) pseudogene|transfer RNA-Gln (TTG) 12-1|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 12-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189478 ENSG00000242752 OTTHUMG00000178523 HG984158 NG_008536 HGNC:35051 +HGNC:35112 NMTRQ-TTG13-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 13-1 non-coding RNA RNA, transfer Approved 7p11.2 07p11.2 nmt-tRNA-Gln-TTG-13-1 TRNAQ52P "transfer RNA glutamine 52 (anticodon UUG) pseudogene|transfer RNA-Gln (TTG) 13-1|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 13-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189535 HG984159 NG_008593 HGNC:35112 +HGNC:34617 NMTRQ-TTG14-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 14-1 non-coding RNA RNA, transfer Approved 9p24.1 09p24.1 nmt-tRNA-Gln-TTG-14-1 TRNAQ9 "transfer RNA glutamine 9 (anticodon UUG)|transfer RNA-Gln (TTG) 14-1|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 14-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189058 HG984160 +HGNC:35117 NMTRQ-TTG15-1 nuclear-encoded mitochondrial tRNA-Gln (TTG) 15-1 non-coding RNA RNA, transfer Approved 4q32.1 04q32.1 nmt-tRNA-Gln-TTG-15-1 TRNAQ54P "transfer RNA glutamine 54 (anticodon UUG) pseudogene|transfer RNA-Gln (TTG) 15-1|nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 15-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189540 HG984161 NG_008598 HGNC:35117 +HGNC:34614 NMTRS-TGA1-1 nuclear-encoded mitochondrial tRNA-Ser (TGA) 1-1 non-coding RNA RNA, transfer Approved 2q21.1 02q21.1 nmt-tRNA-Ser-TGA-1-1 TRNAS8 "transfer RNA serine 8 (anticodon UGA)|nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 1-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189055 HG984169 +HGNC:35100 NMTRS-TGA2-1 nuclear-encoded mitochondrial tRNA-Ser (TGA) 2-1 non-coding RNA RNA, transfer Approved 2q21.1 02q21.1 nmt-tRNA-Ser-TGA-2-1 TRNAS31P "transfer RNA serine 31 (anticodon UGA) pseudogene|nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 2-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189525 HG984170 NG_008583 HGNC:35100 +HGNC:35087 NMTRS-TGA3-1 nuclear-encoded mitochondrial tRNA-Ser (TGA) 3-1 non-coding RNA RNA, transfer Approved 17p11.2 17p11.2 nmt-tRNA-Ser-TGA-3-1 TRNAS30P "transfer RNA serine 30 (anticodon UGA) pseudogene|nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 3-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189512 ENSG00000241225 OTTHUMG00000179090 HG984171 NG_008570 HGNC:35087 +HGNC:35088 NMTRV-TAC1-1 nuclear-encoded mitochondrial tRNA-Val (TAC) 1-1 non-coding RNA RNA, transfer Approved 6q25.3 06q25.3 nmt-tRNA-Val-TAC-1-1 TRNAV37P "transfer RNA valine 37 (anticodon UAC) pseudogene|nuclear-encoded mitochondrial transfer RNA-Val (TAC) 1-1" Nuclear-encoded mitochondrial transfer RNAs 841 2008-08-29 2014-06-19 2018-11-15 2018-11-15 100189513 HG984172 NG_008571 HGNC:35088 +HGNC:7859 NMU neuromedin U protein-coding gene gene with protein product Approved 4q12 04q12 prepro-NMU Neuropeptides 1902 1999-08-06 2015-08-25 10874 ENSG00000109255 OTTHUMG00000102161 uc003hbc.3 X76029 NM_001292045 "CCDS75125|CCDS77914|CCDS3501" P48645 7619205 MGI:1860476 RGD:68388 605103 ligandId:1470 HGNC:7859 "ENST00000264218.7|NM_006681.4" +HGNC:4518 NMUR1 neuromedin U receptor 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "GPC-R|FM-3|NMU1R" GPR66 G protein-coupled receptor 66 Neuromedin U receptors 239 1999-06-02 2004-05-28 2004-05-27 2014-11-19 10316 ENSG00000171596 OTTHUMG00000133225 uc002vry.5 AF044600 NM_006056 CCDS2486 Q9HB89 9782091 MGI:1341898 RGD:619867 604153 objectId:298 HGNC:4518 "ENST00000305141.5|NM_006056.5" +HGNC:16454 NMUR2 neuromedin U receptor 2 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 NMU2R Neuromedin U receptors 239 2001-08-24 2004-05-28 2014-11-19 56923 ENSG00000132911 OTTHUMG00000130131 uc003luv.3 AF242874 NM_020167 CCDS4321 Q9GZQ4 "8940772|10894543" MGI:2441765 RGD:621155 605108 objectId:299 HGNC:16454 "ENST00000255262.4|NM_020167.5" +HGNC:7860 NNAT neuronatin protein-coding gene gene with protein product Approved 20q11.23 20q11.23 Peg5 1996-07-29 2021-04-13 4826 ENSG00000053438 OTTHUMG00000032420 uc002xhd.4 NM_005386 "CCDS13297|CCDS13296" Q16517 "8660979|27109921" MGI:104716 RGD:620155 LRG_1048|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1048.xml 603106 HGNC:7860 "ENST00000649451.1|NM_005386.4" +HGNC:7861 NNMT nicotinamide N-methyltransferase protein-coding gene gene with protein product Approved 11q23.2 11q23.2 7BS small molecule methyltransferases 2063 1994-04-18 2019-08-20 4837 ENSG00000166741 OTTHUMG00000168245 uc001por.2 U08021 NM_006169 CCDS8368 P40261 8575745 MGI:1099443 RGD:1309606 600008 2.1.1.1 HGNC:7861 "ENST00000299964.4|NM_006169.3" +HGNC:7863 NNT nicotinamide nucleotide transhydrogenase protein-coding gene gene with protein product Approved 5p12 05p12 1999-11-16 2014-11-19 23530 ENSG00000112992 OTTHUMG00000096961 uc003joe.4 U40490 NM_182977 "CCDS82994|CCDS3949" Q13423 "9271681|9524818" MGI:109279 RGD:1587346 607878 304075 1.6.1.1 HGNC:7863 "ENST00000344920.9|NM_182977.3" HGNC:7863 +HGNC:49005 NNT-AS1 NNT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p12 05p12 RP11-159F24.1 Antisense RNAs 1987 2013-07-30 2018-11-30 100652772 ENSG00000248092 OTTHUMG00000162220 NR_073113 "27966450|28628975" NNT-AS1 HGNC:49005 +HGNC:28473 NOA1 nitric oxide associated 1 protein-coding gene gene with protein product Approved 4q12 04q12 "MGC3232|hAtNOS1|hNOA1|MTG3" "nitric oxide synthase, mitochondrial (putative)|mitochondrial GTPase 3 homolog (S. cerevisiae)" C4orf14 chromosome 4 open reading frame 14 2004-01-28 2011-10-19 2011-10-19 2020-05-15 84273 ENSG00000084092 OTTHUMG00000128773 uc003hck.4 AK098215 NM_032313 CCDS3510 Q8NC60 "16380119|2118999|21771794|22447445" MGI:1914306 RGD:1359460 614919 HGNC:28473 "ENST00000264230.5|NM_032313.4" +HGNC:29540 NOB1 NIN1 (RPN12) binding protein 1 homolog protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "NOB1P|ART-4|MST158" nin one binding protein PSMD8BP1 "PSMD8 binding protein 1|NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)|NIN1/PSMD8 binding protein 1 homolog" "Endoribonucleases|Ribosomal biogenesis factors" "1687|1729" 2006-02-27 2006-04-20 2018-02-23 2019-03-15 28987 ENSG00000141101 OTTHUMG00000137576 uc002exs.5 AB026125 NM_014062 CCDS10884 Q9ULX3 16172919 MGI:1914869 RGD:735222 613586 HGNC:29540 "ENST00000268802.10|NM_014062.3" +HGNC:22448 NOBOX NOBOX oogenesis homeobox protein-coding gene gene with protein product Approved 7q35 07q35 "OG2|Og2x" newborn ovary homeobox-encoding gene PRD class homeoboxes and pseudogenes 521 2006-05-19 2018-11-16 135935 ENSG00000106410 OTTHUMG00000158051 uc064iya.1 NM_001080413 CCDS47736 O60393 "11804785|16597639" MGI:108011 RGD:1563929 610934 8475 180166 HGNC:22448 "ENST00000467773.1|NM_001080413.3" HGNC:22448 +HGNC:24517 NOC2L NOC2 like nucleolar associated transcriptional repressor protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "DKFZP564C186|NET7|NET15|NIR|PPP1R112" "novel INHAT repressor|protein phosphatase 1, regulatory subunit 12" nucleolar complex associated 2 homolog (S. cerevisiae) "Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing" "694|1492" 2005-08-01 2016-02-15 2016-02-15 26155 ENSG00000188976 OTTHUMG00000040720 uc001abz.5 AL050019 NM_015658 CCDS3 Q9Y3T9 "20123734|22363708" MGI:1931051 RGD:1309387 610770 HGNC:24517 "ENST00000327044.7|NM_015658.4" +HGNC:52285 NOC2LP1 NOC2 like nucleolar associated transcriptional repressor pseudogene 1 pseudogene pseudogene Approved 2q21.1 02q21.1 2016-02-15 2016-02-15 643276 ENSG00000213225 OTTHUMG00000153749 NG_006964 PGOHUM00000298689 HGNC:52285 +HGNC:52286 NOC2LP2 NOC2 like nucleolar associated transcriptional repressor pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 2016-02-15 2016-02-15 401010 ENSG00000217950 OTTHUMG00000153596 NR_002826 PGOHUM00000298143 HGNC:52286 +HGNC:24034 NOC3L NOC3 like DNA replication regulator protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "AD24|FLJ12820|FAD24" factor for adipocyte differentiation 24 C10orf117 "chromosome 10 open reading frame 117|nucleolar complex associated 3 homolog (S. cerevisiae)|NOC3-like DNA replication regulator" Armadillo like helical domain containing 1492 2004-04-20 2005-08-01 2016-02-01 2016-02-01 64318 ENSG00000173145 OTTHUMG00000018788 uc001kjq.2 AL355341 NM_022451 CCDS7433 Q8WTT2 "15564382|18520036" MGI:1932610 RGD:1560656 610769 HGNC:24034 "ENST00000371361.3|NM_022451.11" +HGNC:28461 NOC4L nucleolar complex associated 4 homolog protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "MGC3162|NET49|UTP19|Noc4" nucleolar complex associated 4 homolog (S. cerevisiae) "SSU processome|Armadillo like helical domain containing" "1484|1492" 2005-08-01 2015-07-03 2017-05-26 79050 ENSG00000184967 OTTHUMG00000168260 uc001ujz.1 NM_024078 CCDS9277 Q9BVI4 12446671 MGI:2140843 RGD:1310661 612819 HGNC:28461 "ENST00000330579.6|NM_024078.3" +HGNC:14254 NOCT nocturnin protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "CCR4L|Ccr4c|NOC" CCRN4L "CCR4-like (carbon catabolite repression 4, S.cerevisiae)|CCR4 carbon catabolite repression 4-like (S. cerevisiae)" 2000-12-14 2015-06-19 2015-06-19 2015-08-25 25819 ENSG00000151014 OTTHUMG00000161271 AF183961 NM_012118 CCDS3743 Q9UK39 "10521507|11394964" MGI:109382 RGD:1587344 608468 HGNC:14254 "ENST00000280614.4|NM_012118.4" +HGNC:16390 NOD1 nucleotide binding oligomerization domain containing 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "NLRC1|CLR7.1" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1|NLR family, CARD domain containing 1" CARD4 caspase recruitment domain family, member 4 "NLR family|Caspase recruitment domain containing" "666|959" 2001-12-11 2006-12-08 2015-11-19 2015-11-19 10392 ENSG00000106100 OTTHUMG00000023923 uc003tav.4 AF126484 NM_001354849 CCDS5427 Q9Y239 "10224040|10329646" MGI:1341839 RGD:1562269 605980 objectId:1762 HGNC:16390 "ENST00000222823.9|NM_006092.4" +HGNC:5331 NOD2 nucleotide binding oligomerization domain containing 2 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "BLAU|CD|PSORAS1|CLR16.3|NLRC2" "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2|NOD-like receptor C2|NLR family, CARD domain containing 2" "IBD1|CARD15" caspase recruitment domain family, member 15 "NLR family|Caspase recruitment domain containing" "666|959" 1998-07-10 2006-12-08 2015-11-19 2021-05-26 64127 ENSG00000167207 OTTHUMG00000133171 uc002egm.2 AF178930 NM_022162 "CCDS10746|CCDS86525" Q9HC29 "7809109|8587604" MGI:2429397 RGD:1306368 LRG_177|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_177.xml 605956 123845 objectId:1763 HGNC:5331 "ENST00000647318.2|NM_001370466.1" HGNC:5331 +HGNC:7865 NODAL nodal growth differentiation factor protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "nodal, mouse, homolog|nodal homolog (mouse)" Transforming growth factor beta superfamily 1932 1998-06-05 2012-12-07 2014-11-19 4838 ENSG00000156574 OTTHUMG00000018408 uc001jrc.3 BC033585 NM_018055 CCDS7304 Q96S42 9354794 MGI:97359 RGD:1305994 601265 281884 HGNC:7865 "ENST00000287139.8|NM_018055.5" HGNC:7865 +HGNC:7866 NOG noggin protein-coding gene gene with protein product Approved 17q22 17q22 "SYNS1|SYM1" "synostoses (multiple) syndrome 1|symphalangism 1 (proximal)" 1999-03-24 2003-03-12 2015-08-25 9241 ENSG00000183691 OTTHUMG00000151770 uc002iup.2 U31202 NM_005450 CCDS11589 Q13253 "7666191|10080184|11545688" MGI:104327 RGD:3183 602991 123854 ligandId:10975 HGNC:7866 "ENST00000332822.6|NM_005450.6" HGNC:7866 +HGNC:7869 NOL3 nucleolar protein 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "ARC|NOP30|MYP|CARD2" nucleolar protein 3 (apoptosis repressor with CARD domain) Caspase recruitment domain containing 959 1999-01-13 2015-11-27 2019-08-21 8996 ENSG00000140939 OTTHUMG00000173316 uc031qwo.2 AF043244 NM_001185057 "CCDS42176|CCDS58473|CCDS61960" O60936 9560245 MGI:1925938 RGD:708558 605235 324240 HGNC:7869 HGNC:7869 +HGNC:7870 NOL4 nucleolar protein 4 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "NOLP|HRIHFB2255|CT125" cancer/testis antigen 125 2000-02-11 2016-10-05 8715 ENSG00000101746 OTTHUMG00000132291 uc010dmi.3 AB017800 NM_003787 "CCDS56058|CCDS59308|CCDS11907|CCDS56059" O94818 9813152 MGI:2441684 RGD:1310663 603577 HGNC:7870 "ENST00000261592.10|NM_003787.5" +HGNC:16106 NOL4L nucleolar protein 4 like protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ1184F4.2|DKFZP566G1424|dJ1184F4.4" hypothetical protein LOC140688 "C20orf113|C20orf112" "chromosome 20 open reading frame 113|chromosome 20 open reading frame 112" 2001-07-17 2014-05-07 2016-06-17 2016-06-17 140688 ENSG00000197183 OTTHUMG00000032219 AL034550 NM_080616 "CCDS74718|CCDS13202" Q96MY1 "11780052|15302935|20520637" MGI:1918765 RGD:1563510 618893 HGNC:16106 "ENST00000621426.7|NM_001256798.2" +HGNC:44310 NOL4L-DT NOL4L divergent transcript non-coding RNA RNA, long non-coding Approved 20q11.21 20q11.21 Divergent transcripts 1990 2017-08-03 2017-08-03 2017-08-03 149950 ENSG00000204393 OTTHUMG00000032222 NR_034152 HGNC:44310 +HGNC:19910 NOL6 nucleolar protein 6 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA311H10.1|Nrap|FLJ21959|MGC14896|MGC14921|MGC20838|UTP22" "nucleolar protein family 6 (RNA-associated)|nucleolar protein 6 (RNA-associated)" "UTPc subcomplex|MicroRNA protein coding host genes" "1490|1691" 2002-12-04 2015-11-27 2016-10-05 65083 ENSG00000165271 OTTHUMG00000000394 uc003zsz.4 AF361079 NM_022917 "CCDS6544|CCDS6543" Q9H6R4 "11895476|15590835" MGI:2140151 RGD:1308033 611532 HGNC:19910 "ENST00000297990.9|NM_022917.5" +HGNC:21040 NOL7 nucleolar protein 7 protein-coding gene gene with protein product Approved 6p23 06p23 "NOP27|RARG-1|dJ223E5.2" "C6orf90|PQBP3" "chromosome 6 open reading frame 90|polyglutamine binding protein 3|nucleolar protein 7, 27kDa" 2004-02-10 2015-11-09 2015-11-09 51406 ENSG00000225921 OTTHUMG00000014277 uc003naz.4 AF172066 NM_016167 CCDS4528 Q9UMY1 16205646 MGI:1917328 RGD:1565934 611533 HGNC:21040 "ENST00000451315.7|NM_016167.5" +HGNC:23387 NOL8 nucleolar protein 8 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "FLJ20736|Nop132" C9orf34 chromosome 9 open reading frame 34 RNA binding motif containing 725 2003-11-14 2004-01-14 2004-01-12 2019-02-25 55035 ENSG00000198000 OTTHUMG00000020221 uc064uhl.1 AB109030 NM_017948 "CCDS59135|CCDS83384|CCDS47993" Q76FK4 "15132771|30125550" MGI:1918180 RGD:1309551 611534 HGNC:23387 "ENST00000442668.7|NM_017948.6" +HGNC:49557 NOL8P1 nucleolar protein 8 pseudogene 1 pseudogene pseudogene Approved 4q32.3 04q32.3 2014-01-14 2014-01-14 402191 ENSG00000248327 OTTHUMG00000161128 NG_008249 PGOHUM00000259922 HGNC:49557 +HGNC:26265 NOL9 nucleolar protein 9 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "FLJ23323|NET6|Grc3" polynucleotide 5'-kinase Large ribosomal subunit biogenesis complex 1301 2005-08-08 2020-11-17 79707 ENSG00000162408 OTTHUMG00000000904 uc001ans.4 AK091284 NM_024654 CCDS80 Q5SY16 21063389 MGI:1921285 RGD:1566167 HGNC:26265 "ENST00000377705.6|NM_024654.5" +HGNC:25862 NOL10 nucleolar protein 10 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 FLJ14075 PQBP5 polyglutamine binding protein 5 WD repeat domain containing 362 2005-08-08 2019-02-25 79954 ENSG00000115761 OTTHUMG00000119023 uc002raq.4 AK024137 NM_024894 "CCDS58698|CCDS58697|CCDS1673" Q9BSC4 27599843 MGI:2684913 RGD:1359447 616197 HGNC:25862 "ENST00000381685.10|NM_024894.4" +HGNC:24557 NOL11 nucleolar protein 11 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 DKFZP586L0724 "UTPa subcomplex|Small nucleolar RNA protein coding host genes" "1483|1835" 2005-08-08 2019-03-21 25926 ENSG00000130935 OTTHUMG00000179777 uc002jgd.2 AK023702 NM_015462 CCDS11671 Q9H8H0 22916032 MGI:1916229 RGD:1584081 615366 HGNC:24557 "ENST00000253247.9|NM_015462.5" +HGNC:28585 NOL12 nucleolar protein 12 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "MGC3731|Nop25|RRP17" 2006-06-23 2019-02-25 79159 ENSG00000273899 OTTHUMG00000150660 uc003atp.4 Z83844 NM_024313 CCDS13955 Q9UGY1 29069457 MGI:2146285 RGD:1305327 HGNC:28585 "ENST00000359114.9|NM_024313.3" +HGNC:15608 NOLC1 nucleolar and coiled-body phosphoprotein 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "P130|KIAA0035|NOPP140|NOPP130|Srp40" 2001-05-17 2020-01-06 9221 ENSG00000166197 OTTHUMG00000018944 uc001kuo.4 Z34289 NM_004741 "CCDS7530|CCDS65925|CCDS65926" Q14978 "7657714|10567578" MGI:1918019 RGD:621578 602394 HGNC:15608 "ENST00000605788.6|NM_004741.5" +HGNC:54890 NOLC1P1 NOLC1 pseudogene 1 pseudogene pseudogene Approved Xp22.31 Xp22.31 2020-04-17 2020-04-17 392426 ENSG00000225271 NG_022581 +HGNC:13244 NOM1 nucleolar protein with MIF4G domain 1 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "SGD1|PPP1R113" protein phosphatase 1, regulatory subunit 113 C7orf3 chromosome 7 open reading frame 3 "Protein phosphatase 1 regulatory subunits|SSU processome|MIF4G domain containing proteins" "694|1484|2128" 2000-12-20 2005-03-30 2005-03-30 2015-08-25 64434 ENSG00000146909 OTTHUMG00000152639 uc003wmy.3 AF107455 NM_138400 CCDS34787 Q5C9Z4 10329000 MGI:1861749 RGD:1588109 611269 HGNC:13244 "ENST00000275820.4|NM_138400.2" +HGNC:30060 NOMO1 NODAL modulator 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 PM5 2004-09-10 2014-11-19 23420 ENSG00000103512 OTTHUMG00000090541 uc002dcv.4 X57398 NM_014287 CCDS10556 Q15155 "1310294|15257293" MGI:2385850 609157 HGNC:30060 "ENST00000287667.12|NM_014287.4" +HGNC:22652 NOMO2 NODAL modulator 2 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "NOMO|PM5" 2004-09-10 2015-09-04 283820 ENSG00000185164 OTTHUMG00000131366 uc032dtk.2 AL512687 NM_001004060 "CCDS10570|CCDS32394" Q5JPE7 15257293 MGI:2385850 RGD:1305240 609158 HGNC:22652 "ENST00000622306.5|NM_173614.4" +HGNC:25242 NOMO3 NODAL modulator 3 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 2004-09-29 2015-09-01 408050 ENSG00000103226 OTTHUMG00000177317 uc002deq.4 AK125530 NM_001004067 CCDS42123 P69849 15257293 MGI:2385850 609159 HGNC:25242 "ENST00000399336.9|NM_001004067.4" +HGNC:7871 NONO non-POU domain containing octamer binding protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "NRB54|NMT55|P54NRB|P54|PPP1R114" "Nuclear RNA-binding protein, 54-kD|non-Pou domain-containing octamer (ATGCAAAT) binding protein|protein phosphatase 1, regulatory subunit 114" non-POU-domain-containing, octamer-binding "Protein phosphatase 1 regulatory subunits|RNA binding motif containing" "694|725" 1992-02-06 2017-05-12 2017-05-12 4841 ENSG00000147140 OTTHUMG00000021798 uc004dzn.5 L14599 NM_007363 "CCDS55445|CCDS14410" Q15233 "8371983|9360842" MGI:1855692 RGD:1549738 NONO 300084 326751 HGNC:7871 "ENST00000276079.13|NM_007363.5" HGNC:7871 +HGNC:42031 NONOP1 non-POU domain containing, octamer-binding pseudogene 1 pseudogene pseudogene Approved 16q22.1 16q22.1 2011-06-01 2014-11-18 644035 NG_009842 PGOHUM00000248919 HGNC:42031 +HGNC:42032 NONOP2 non-POU domain containing, octamer-binding pseudogene 2 pseudogene pseudogene Approved 2p16.1 02p16.1 2011-06-01 2014-11-18 100271700 ENSG00000237522 OTTHUMG00000155384 NG_009843 PGOHUM00000240055 HGNC:42032 +HGNC:7867 NOP2 NOP2 nucleolar protein protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "NOP120|NSUN1|p120" NOP2/Sun domain family, member 1 NOL1 "nucleolar protein 1 (120kD)|nucleolar protein 1, 120kDa|nucleolar protein 2 homolog (yeast)|NOP2 nucleolar protein homolog (yeast)" NOP2/Sun RNA methyltransferase family 664 1994-02-23 2008-10-13 2012-12-10 2016-10-05 4839 ENSG00000111641 OTTHUMG00000169163 uc058kgw.1 NM_006170 "CCDS58203|CCDS44811|CCDS58204|CCDS58202" P46087 8088812 MGI:107891 RGD:1304616 164031 HGNC:7867 "ENST00000322166.10|NM_001258308.2" +HGNC:19826 NOP9 NOP9 nucleolar protein protein-coding gene gene with protein product Approved 14q12 14q12 C14orf21 "chromosome 14 open reading frame 21|NOP9 nucleolar protein homolog (yeast)" "SSU processome|Armadillo like helical domain containing" "1484|1492" 2003-01-13 2012-06-06 2012-12-10 2015-08-25 161424 ENSG00000196943 OTTHUMG00000029342 uc001wol.3 NM_001286367 "CCDS9624|CCDS66616" Q86U38 21653694 MGI:1915092 RGD:1308396 618308 HGNC:19826 "ENST00000267425.8|NM_174913.3" +HGNC:14378 NOP10 NOP10 ribonucleoprotein protein-coding gene gene with protein product Approved 15q14 15q14 "NOP10P|MGC70651" homolog of yeast Nop10p NOLA3 "nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)|NOP10 ribonucleoprotein homolog (yeast)" H/ACA ribonucleoprotein complex 1221 2001-02-06 2008-10-13 2012-12-10 2021-05-26 55505 ENSG00000182117 OTTHUMG00000129440 uc001zie.2 AB043103 NM_018648 CCDS10037 Q9NPE3 "11074001|9843512" MGI:1913431 RGD:1582780 LRG_345|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_345.xml 606471 159137 HGNC:14378 "ENST00000328848.6|NM_018648.4" HGNC:14378 +HGNC:16821 NOP14 NOP14 nucleolar protein protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "RES4-25|UTP2" NOP14 homolog (S. cerevisiae) "C4orf9|NOL14" "chromosome 4 open reading frame 9|nucleolar protein 14|nucleolar protein 14 homolog (yeast)|NOP14 nucleolar protein homolog (yeast)" SSU processome 1484 2003-01-08 2008-10-13 2012-12-10 2014-11-18 8602 ENSG00000087269 OTTHUMG00000159911 uc003ggl.4 AB000467 NM_003703 "CCDS77893|CCDS33945" P78316 "9734812|11694595" MGI:1922666 RGD:1305605 611526 HGNC:16821 "ENST00000416614.7|NM_001291978.2" +HGNC:20205 NOP14-AS1 NOP14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 RES4-24 C4orf10 "chromosome 4 open reading frame 10|NOP14 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-01-08 2012-02-24 2012-08-15 2012-10-12 317648 ENSG00000249673 OTTHUMG00000160136 uc003ggi.1 AB000465 NR_015453 9734812 NOP14-AS1 HGNC:20205 +HGNC:26934 NOP16 NOP16 nucleolar protein protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "HSPC111|HSPC185|LOC51491" "hypothetical protein HSPC111|HBV pre-S2 trans-regulated protein 3" "nucleolar protein 16 homolog (yeast)|NOP16 nucleolar protein homolog (yeast)" 2008-10-03 2012-12-10 2016-04-25 51491 ENSG00000048162 OTTHUMG00000163186 uc032vuv.2 NM_016391 "CCDS78091|CCDS43403|CCDS58991" Q9Y3C1 "10810093|11042152" MGI:107862 RGD:1305727 612861 HGNC:26934 "ENST00000614830.5|NM_016391.8" +HGNC:4333 NOP53 NOP53 ribosome biogenesis factor protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "PICT-1|PICT1" GLTSCR2 glioma tumor suppressor candidate region gene 2 Ribosomal biogenesis factors 1729 2000-02-29 2017-02-28 2017-02-28 2017-02-28 29997 ENSG00000105373 OTTHUMG00000183059 uc002phm.3 AF182076 NM_015710 CCDS12705 Q9NZM5 "10708517|16971513|17657248|24120868" MGI:2154441 RGD:1303085 605691 HGNC:4333 "ENST00000246802.10|NM_015710.5" +HGNC:51587 NOP53-AS1 NOP53 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 GLTSCR2-AS1 GLTSCR2 antisense RNA 1 Antisense RNAs 1987 2015-03-11 2017-02-28 2017-02-28 2017-02-28 106144593 ENSG00000269656 OTTHUMG00000183060 DB337897 NR_132382 HGNC:51587 +HGNC:15911 NOP56 NOP56 ribonucleoprotein protein-coding gene gene with protein product Approved 20p13 20p13 SCA36 spinocerebellar ataxia 36 NOL5A "nucleolar protein 5A (56kD with KKE/D repeat)|nucleolar protein 5A (56kDa with KKE/D repeat)|NOP56 ribonucleoprotein homolog (yeast)" "U3 small nucleolar ribonucleoprotein|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1485|1691|1835" 2001-06-21 2009-01-13 2012-12-10 2021-05-26 10528 ENSG00000101361 OTTHUMG00000031703 uc002wgh.4 Y12065 NM_006392 CCDS13030 O00567 "9372940|21683323" MGI:1914384 RGD:1308892 614154 279649 HGNC:15911 "ENST00000329276.10|NM_006392.4" HGNC:15911 +HGNC:13962 NOP56P1 NOP56 ribonucleoprotein pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "NOP56-L|dJ207F6.1" "NOL5B|NOL5BP" "nucleolar protein 5B|nucleolar protein 5B pseudogene|NOP56 ribonucleoprotein homolog (yeast) pseudogene 1" 2003-11-27 2009-05-07 2012-12-10 2016-10-05 646192 ENSG00000235559 OTTHUMG00000031045 NG_006572 PGOHUM00000260120 HGNC:13962 +HGNC:49800 NOP56P2 NOP56 ribonucleoprotein pseudogene 2 pseudogene pseudogene Approved 9p21.3 09p21.3 2014-02-21 2014-02-21 402360 ENSG00000226626 OTTHUMG00000019701 NG_023280 PGOHUM00000236415 HGNC:49800 +HGNC:49801 NOP56P3 NOP56 ribonucleoprotein pseudogene 3 pseudogene pseudogene Approved 12q21.2 12q21.2 2014-02-21 2014-02-21 106481967 ENSG00000257956 OTTHUMG00000170066 NG_043307 PGOHUM00000258682 HGNC:49801 +HGNC:29926 NOP58 NOP58 ribonucleoprotein protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "NOP5|HSPC120" NOP58 ribonucleoprotein homolog (yeast) "U3 small nucleolar ribonucleoprotein|Small nucleolar RNA protein coding host genes" "1485|1835" 2009-01-13 2012-12-10 2014-11-19 51602 ENSG00000055044 OTTHUMG00000132840 uc002uzb.4 NM_015934 CCDS2353 Q9Y2X3 "10606270|10925205" MGI:1933184 RGD:620484 616742 HGNC:29926 "ENST00000264279.10|NM_015934.5" +HGNC:28628 NOPCHAP1 NOP protein chaperone 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "MGC40397|DDSR1" DNA damage-sensitive RNA 1 C12orf45 chromosome 12 open reading frame 45 2006-01-23 2021-01-22 2021-01-22 2021-07-20 121053 ENSG00000151131 OTTHUMG00000169822 uc001tlb.4 BC032326 NM_152318 CCDS41825 Q8N5I9 "25404746|27715451|33367824" MGI:106381 RGD:1563365 HGNC:28628 "ENST00000552951.7|NM_152318.3" +HGNC:44311 NORAD non-coding RNA activated by DNA damage non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 LINC00657 long intergenic non-protein coding RNA 657 Long non-coding RNAs with non-systematic symbols 1992 2012-08-09 2015-12-24 2015-12-24 2019-06-21 647979 ENSG00000260032 OTTHUMG00000175580 uc061wse.1 "AI619767|AK090641|BC011592" NR_027451 "26724866|27406171" MGI:1914767 617037 NORAD HGNC:44311 +HGNC:7872 NOS1 nitric oxide synthase 1 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 nNOS NOS nitric oxide synthase 1 (neuronal) PDZ domain containing 1220 1992-06-09 2015-12-04 2017-07-12 4842 ENSG00000089250 OTTHUMG00000137376 uc001twm.3 NM_000620 "CCDS41842|CCDS55890" P29475 "1385308|7682706" MGI:97360 RGD:3184 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=NOS1 163731 426568 objectId:1251 1.14.13.39 HGNC:7872 "ENST00000317775.11|NM_000620.5" HGNC:7872 +HGNC:16859 NOS1AP nitric oxide synthase 1 adaptor protein protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "KIAA0464|CAPON" C-terminal PDZ domain ligand of neuronal nitric oxide synthase nitric oxide synthase 1 (neuronal) adaptor protein MicroRNA protein coding host genes 1691 2005-06-15 2015-12-04 2015-12-04 9722 ENSG00000198929 OTTHUMG00000024049 uc001gbv.3 AB007933 NM_014697 "CCDS44267|CCDS1237|CCDS53421" O75052 "9455484|9459447" MGI:1917979 RGD:620106 605551 289008 HGNC:16859 "ENST00000361897.10|NM_014697.3" HGNC:16859 +HGNC:7873 NOS2 nitric oxide synthase 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "iNOS|NOS|HEP-NOS" NOS2A "nitric oxide synthase 2A (inducible, hepatocytes)|nitric oxide synthase 2, inducible" 1993-06-15 2008-09-16 2015-12-04 2015-12-04 4843 ENSG00000007171 OTTHUMG00000132445 uc002gzu.4 U20141 NM_000625 CCDS11223 P35228 7682706 MGI:97361 RGD:3185 163730 objectId:1250 1.14.13.39 HGNC:7873 "ENST00000313735.11|NM_000625.4" HGNC:7873 +HGNC:7875 NOS2P1 nitric oxide synthase 2 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 NOS2C "nitric oxide synthase 2C|nitric oxide synthase 2C (pseudogene)" 1995-04-13 2008-09-16 2008-09-16 2020-04-20 645740 ENSG00000265788 OTTHUMG00000179197 U18335 NG_006943 7558036 600720 PGOHUM00000237000 HGNC:7875 +HGNC:7874 NOS2P2 nitric oxide synthase 2 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 NOS2B "nitric oxide synthase 2B|nitric oxide synthase 2B (pseudogene)" 1995-04-13 2008-09-16 2008-09-16 2020-04-20 201288 ENSG00000167494 OTTHUMG00000059253 U18333 NG_001568 7558036 600719 PGOHUM00000250807 HGNC:7874 +HGNC:35124 NOS2P3 nitric oxide synthase 2 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2008-09-16 2014-03-20 339256 ENSG00000230528 OTTHUMG00000130731 NG_002717 11997339 PGOHUM00000237285 HGNC:35124 +HGNC:50720 NOS2P4 nitric oxide synthase 2 pseudogene 4 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-06-12 2014-06-12 266619 ENSG00000264892 OTTHUMG00000179841 NG_002365 PGOHUM00000237242 HGNC:50720 +HGNC:7876 NOS3 nitric oxide synthase 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "ECNOS|eNOS" endothelial nitric oxide synthase nitric oxide synthase 3 (endothelial cell) 1993-08-23 2015-11-26 2016-10-05 4846 ENSG00000164867 OTTHUMG00000158343 uc003wif.4 NM_000603 "CCDS55183|CCDS55182|CCDS5912" P29474 1379542 MGI:97362 RGD:3186 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=NOS3 163729 470782 objectId:1249 1.14.13.39 HGNC:7876 "ENST00000297494.8|NM_000603.5" +HGNC:17946 NOSIP nitric oxide synthase interacting protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 CGI-25 "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2003-01-06 2016-10-24 51070 ENSG00000142546 OTTHUMG00000183169 uc002pol.5 AF132959 NM_001270960 "CCDS86789|CCDS12772" Q9Y314 "11149895|10810093" MGI:1913644 RGD:1309992 616759 HGNC:17946 "ENST00000596358.6|NM_001270960.2" +HGNC:20203 NOSTRIN nitric oxide synthase trafficking protein-coding gene gene with protein product Approved 2q24.3 02q24.3 MGC20702 nitric oxide synthase trafficker F-BAR domain containing 1288 2003-01-06 2013-08-05 2016-10-05 115677 ENSG00000163072 OTTHUMG00000153990 uc002ueg.4 AJ532842 NM_052946 "CCDS42771|CCDS54416|CCDS54415|CCDS42772" Q8IVI9 12446846 MGI:3606242 RGD:727920 607496 HGNC:20203 "ENST00000317647.12|NM_001039724.4" +HGNC:7881 NOTCH1 notch receptor 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 TAN1 "Notch (Drosophila) homolog 1 (translocation-associated)|Notch homolog 1, translocation-associated (Drosophila)|notch 1" "Notch receptors|MicroRNA protein coding host genes" "1689|1691" 1992-02-13 2019-01-03 2021-05-26 4851 ENSG00000148400 OTTHUMG00000020935 uc004chz.4 AF308602 NM_017617 CCDS43905 P46531 1831692 MGI:97363 RGD:3187 LRG_1122|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1122.xml NOTCH1 190198 123361 objectId:2861 HGNC:7881 "ENST00000651671.1|NM_017617.5" HGNC:7881 +HGNC:7882 NOTCH2 notch receptor 2 protein-coding gene gene with protein product Approved 1p12 01p12 "Notch (Drosophila) homolog 2|Notch homolog 2 (Drosophila)|notch 2" Notch receptors 1689 1994-11-10 2019-01-03 2021-05-26 4853 ENSG00000134250 OTTHUMG00000012177 uc001eik.4 AF315356 NM_024408 CCDS908 Q04721 7698746 MGI:97364 RGD:3188 NOTCH2 600275 123858 objectId:2859 HGNC:7882 "ENST00000256646.7|NM_024408.4" HGNC:7882 +HGNC:31862 NOTCH2NLA notch 2 N-terminal like A protein-coding gene gene with protein product Approved 1q21.1 01q21.1 N2N NOTCH2NL "Notch homolog 2 (Drosophila) N-terminal like|notch 2 N-terminal like" 2004-12-02 2018-06-08 2018-06-08 2018-08-01 388677 ENSG00000264343 OTTHUMG00000013754 uc031uty.2 NM_203458 CCDS72880 Q7Z3S9 "14673143|29856954|29856955" 618023 HGNC:31862 +HGNC:53923 NOTCH2NLB notch 2 N-terminal like B protein-coding gene gene with protein product Approved 1q21.2 01q21.2 2018-06-08 2019-08-20 100996763 ENSG00000286019 NM_001364007 CCDS86012 P0DPK3 "29856954|29856955" 618024 HGNC:53923 +HGNC:53924 NOTCH2NLC notch 2 N-terminal like C protein-coding gene gene with protein product Approved 1q21.2 01q21.2 2018-06-08 2019-08-20 100996717 ENSG00000286219 NM_001364012 CCDS86015 P0DPK4 "29856954|29856955" 618025 HGNC:53924 "ENST00000650865.2|NM_001364013.2" +HGNC:53925 NOTCH2NLR notch 2 N-terminal like R (pseudogene) pseudogene pseudogene Approved 1p11.2 01p11.2 notch 2 N-terminal like R 2018-06-08 2020-02-17 2020-02-17 101929796 ENSG00000286106 NM_001396072 "29856954|29856955" 618026 HGNC:53925 +HGNC:44253 NOTCH2P1 notch 2 pseudogene 1 pseudogene pseudogene Approved 1p12 01p12 2012-07-25 2012-07-25 100420260 ENSG00000226446 OTTHUMG00000057603 NG_027134 PGOHUM00000244876 HGNC:44253 +HGNC:7883 NOTCH3 notch receptor 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 CASIL CADASIL "Notch (Drosophila) homolog 3|Notch homolog 3 (Drosophila)|notch 3" "Notch receptors|MicroRNA protein coding host genes" "1689|1691" 1994-07-04 2019-01-03 2021-05-26 4854 ENSG00000074181 OTTHUMG00000183217 uc002nan.4 U97669 NM_000435 CCDS12326 Q9UM47 7835890 MGI:99460 RGD:620761 "NOTCH3 - CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical|http://www.LOVD.nl/NOTCH3|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NOTCH3" 600276 123860 objectId:2860 HGNC:7883 "ENST00000263388.7|NM_000435.3" HGNC:7883 +HGNC:7884 NOTCH4 notch receptor 4 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 INT3 "Notch (Drosophila) homolog 4|Notch homolog 4 (Drosophila)|notch 4" Notch receptors 1689 1994-07-04 2019-01-03 2019-01-03 4855 ENSG00000204301 OTTHUMG00000031044 uc003obb.3 NM_004557 CCDS34420 Q99466 7835890 MGI:107471 RGD:1303282 164951 objectId:2862 HGNC:7884 "ENST00000375023.3|NM_004557.4" +HGNC:31839 NOTO notochord homeobox protein-coding gene gene with protein product Approved 2p13.2 02p13.2 notochord homolog (Xenopus laevis) NKL subclass homeoboxes and pseudogenes 519 2004-10-29 2007-02-15 2018-11-16 344022 ENSG00000214513 OTTHUMG00000164128 uc010yrd.3 NM_001134462 CCDS46335 A8MTQ0 15231714 MGI:3053002 RGD:1562910 8552 HGNC:31839 "ENST00000398468.4|NM_001134462.2" +HGNC:27106 NOTUM notum, palmitoleoyl-protein carboxylesterase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 [Wnt protein] O-palmitoleoyl-L-serine hydrolase notum pectinacetylesterase homolog (Drosophila) 2005-11-22 2017-09-13 2017-09-13 147111 ENSG00000185269 OTTHUMG00000154416 uc010wvg.3 BC060882 NM_178493 CCDS32771 Q6P988 25731175 MGI:1924833 RGD:1307119 609847 3.1.1.98 HGNC:27106 "ENST00000409678.8|NM_178493.6" +HGNC:7886 NOVA1 NOVA alternative splicing regulator 1 protein-coding gene gene with protein product Approved 14q12 14q12 NOVA-1 neuro-oncological ventral antigen 1 1998-01-16 2016-05-03 2020-05-12 4857 ENSG00000139910 OTTHUMG00000029385 uc001wpy.4 U04840 NM_006491 "CCDS32060|CCDS9635|CCDS32061" P51513 "8558240|10719891" MGI:104297 RGD:621345 602157 HGNC:7886 "ENST00000539517.7|NM_002515.3" +HGNC:19827 NOVA1-DT NOVA1 divergent transcript non-coding RNA RNA, long non-coding Approved 14q12 14q12 "C14orf22|NOVA1-AS1|LINC02588" "chromosome 14 open reading frame 22|NOVA1 antisense RNA 1 (non-protein coding)|NOVA1 antisense RNA 1|NOVA1 antisense RNA 1 (head to head)|long intergenic non-protein coding RNA 2588" Divergent transcripts 1990 2003-01-13 2021-02-01 2021-02-01 2021-02-01 102725045 ENSG00000257842 OTTHUMG00000170389 uc059ajd.1 AI278049 NR_147061 NOVA1-AS1 HGNC:19827 +HGNC:7887 NOVA2 NOVA alternative splicing regulator 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "ANOVA|NOVA-2" "neuro-oncological ventral antigen 3|astrocytic NOVA1-like" NOVA3 neuro-oncological ventral antigen 2 1998-01-16 2016-05-03 2021-05-26 4858 ENSG00000104967 OTTHUMG00000177499 uc002pdv.3 U70477 NM_002516 CCDS12679 Q9UNW9 "9344654|10368286|30829570" MGI:104296 RGD:1308032 601991 HGNC:7887 "ENST00000263257.6|NM_002516.4" HGNC:7887 +HGNC:7889 NOX1 NADPH oxidase 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "NOH1|NOH-1|MOX1|GP91-2|NOH-1L" "mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)|NADPH oxidase homolog-1" 2000-03-24 2022-01-28 27035 ENSG00000007952 OTTHUMG00000022007 uc004egj.3 AF127763 NM_007052 "CCDS14474|CCDS14475|CCDS65298" Q9Y5S8 "10485709|10615049" MGI:2450016 RGD:620598 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NOX1 300225 objectId:3001 HGNC:7889 "ENST00000372966.8|NM_007052.5" +HGNC:7890 NOX3 NADPH oxidase 3 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 GP91-3 2000-05-30 2015-09-01 50508 ENSG00000074771 OTTHUMG00000015883 uc003qqm.4 AF190122 NM_015718 CCDS5250 Q9HBY0 11376945 MGI:2681162 RGD:1303190 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=NOX3 607105 objectId:3003 HGNC:7890 "ENST00000159060.3|NM_015718.3" +HGNC:7891 NOX4 NADPH oxidase 4 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "KOX-1|KOX" 2000-05-30 2016-10-05 50507 ENSG00000086991 OTTHUMG00000167298 uc001pct.4 AF254621 NM_016931 "CCDS8285|CCDS73362|CCDS44695|CCDS44696|CCDS73361" Q9NPH5 MGI:1354184 RGD:620600 605261 objectId:3004 HGNC:7891 "ENST00000263317.9|NM_016931.5" +HGNC:14874 NOX5 NADPH oxidase 5 protein-coding gene gene with protein product Approved 15q23 15q23 "NOX5A|NOX5B" NADPH oxidase, EF-hand calcium binding domain 5 EF-hand domain containing 863 2001-03-05 2016-06-21 2016-10-05 79400 ENSG00000255346 OTTHUMG00000133320 uc002arr.3 AF317889 NM_024505 "CCDS53954|CCDS53953|CCDS32276" Q96PH1 11483596 606572 objectId:3005 HGNC:14874 "ENST00000388866.8|NM_024505.4" +HGNC:10668 NOXA1 NADPH oxidase activator 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NY-CO-31|FLJ25475" SDCCAG31 serologically defined colon cancer antigen 31 1999-08-25 2002-12-13 2002-12-09 2015-08-25 10811 ENSG00000188747 OTTHUMG00000131781 uc004cmu.4 AF039697 NM_001256067 "CCDS59157|CCDS7042" Q86UR1 9610721 MGI:2449980 RGD:1306687 611255 HGNC:10668 "ENST00000683555.1|NM_001256067.2" +HGNC:19404 NOXO1 NADPH oxidase organizer 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "P41NOXA|P41NOXB|P41NOXC|SH3PXD5|SNX28" 2002-12-09 2014-11-19 124056 ENSG00000196408 OTTHUMG00000128707 uc002cnx.5 AF532985 NM_001267721 "CCDS10454|CCDS10455|CCDS42101|CCDS58406" Q8NFA2 MGI:1919143 RGD:1307802 611256 HGNC:19404 "ENST00000356120.9|NM_172167.3" +HGNC:20487 NOXRED1 NADP dependent oxidoreductase domain containing 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ32809 C14orf148 chromosome 14 open reading frame 148 2004-06-11 2011-09-30 2016-06-08 2016-06-08 122945 ENSG00000165555 OTTHUMG00000171554 uc001xtr.4 AK057371 NM_138791 CCDS45142 Q6NXP6 MGI:1918525 RGD:1589353 HGNC:20487 "ENST00000380835.7|NM_001113475.3" +HGNC:1190 NPAP1 nuclear pore associated protein 1 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 C15orf2 chromosome 15 open reading frame 2 1999-10-22 2012-06-14 2012-06-14 2020-09-17 23742 ENSG00000185823 OTTHUMG00000129179 uc001ywo.4 AF179681 NM_018958 CCDS10015 Q9NZP6 "10783265|22694955" 610922 HGNC:1190 "ENST00000329468.5|NM_018958.3" +HGNC:53980 NPAP1L nuclear pore associated protein 1 like protein-coding gene gene with protein product Approved 16q21 16q21 2018-08-03 2018-08-03 729159 ENSG00000278499 OTTHUMG00000189254 NG_068155 HGNC:53980 +HGNC:45018 NPAP1P1 nuclear pore associated protein 1 pseudogene 1 pseudogene pseudogene Approved 10q11.23 10q11.23 2013-01-08 2014-12-01 100420827 NG_025503 PGOHUM00000290162 HGNC:45018 +HGNC:45019 NPAP1P2 nuclear pore associated protein 1 pseudogene 2 pseudogene pseudogene Approved 10q22.3 10q22.3 2013-01-08 2014-12-01 100420829 ENSG00000214695 OTTHUMG00000018588 NG_025525 PGOHUM00000290217 HGNC:45019 +HGNC:45020 NPAP1P3 nuclear pore associated protein 1 pseudogene 3 pseudogene pseudogene Approved 10q23.2 10q23.2 2013-01-08 2014-12-01 100420830 ENSG00000237740 OTTHUMG00000018676 NG_025530 PGOHUM00000290233 HGNC:45020 +HGNC:45021 NPAP1P4 nuclear pore associated protein 1 pseudogene 4 pseudogene pseudogene Approved 9q21.31 09q21.31 2013-01-08 2014-12-01 100533674 ENSG00000236521 OTTHUMG00000020076 NG_028721 PGOHUM00000303949 HGNC:45021 +HGNC:45022 NPAP1P5 nuclear pore associated protein 1 pseudogene 5 pseudogene pseudogene Approved 9q22.1 09q22.1 2013-01-08 2014-12-01 100420671 NG_023843 PGOHUM00000303965 HGNC:45022 +HGNC:45023 NPAP1P6 nuclear pore associated protein 1 pseudogene 6 pseudogene pseudogene Approved 9q21.31 09q21.31 2013-01-08 2014-12-01 100533675 ENSG00000238002 OTTHUMG00000020073 NG_028726 PGOHUM00000304341 HGNC:45023 +HGNC:51473 NPAP1P7 nuclear pore associated protein 1 pseudogene 7 pseudogene pseudogene Approved 9q22.1 09q22.1 2014-12-01 2014-12-01 107161163 ENSG00000277357 OTTHUMG00000187817 NG_046704 PGOHUM00000304364 HGNC:51473 +HGNC:51474 NPAP1P8 nuclear pore associated protein 1 pseudogene 8 pseudogene pseudogene Approved 9q21.32 09q21.32 2014-12-01 2014-12-01 100420670 NG_023837 PGOHUM00000303956 HGNC:51474 +HGNC:7894 NPAS1 neuronal PAS domain protein 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "MOP5|PASD5|bHLHe11" "neuronal PAS1|member of PAS superfamily 5" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1998-05-29 2016-01-15 4861 ENSG00000130751 OTTHUMG00000183440 uc002pfw.4 U77968 NM_002517 "CCDS12694|CCDS82371" Q99742 "9012850|9079689" MGI:109205 RGD:1310040 603346 HGNC:7894 "ENST00000602212.6|NM_002517.4" +HGNC:7895 NPAS2 neuronal PAS domain protein 2 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "MOP4|PASD4|bHLHe9" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1998-05-29 2015-08-25 4862 ENSG00000170485 OTTHUMG00000130675 uc002tap.2 U77970 NM_002518 CCDS2048 Q99743 "9012850|9079689" MGI:109232 RGD:1309681 603347 HGNC:7895 "ENST00000335681.10|NM_002518.4" +HGNC:40408 NPAS2-AS1 NPAS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 Antisense RNAs 1987 2019-08-16 2019-08-16 101927142 ENSG00000230140 OTTHUMG00000153028 NR_110213 HGNC:40408 +HGNC:19311 NPAS3 neuronal PAS domain protein 3 protein-coding gene gene with protein product Approved 14q13.1 14q13.1 "MOP6|PASD6|bHLHe12" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2002-11-05 2014-11-18 64067 ENSG00000151322 OTTHUMG00000140215 uc001wrt.4 AF164438 NM_001164749 "CCDS9645|CCDS53891|CCDS55912|CCDS53892" Q8IXF0 MGI:1351610 RGD:1307181 609430 HGNC:19311 +HGNC:18983 NPAS4 neuronal PAS domain protein 4 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "PASD10|NXF|Le-PAS|bHLHe79" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 2005-09-26 2014-11-19 266743 ENSG00000174576 OTTHUMG00000167045 uc001ohx.2 AB049469 NM_178864 CCDS8138 Q8IUM7 14701734 MGI:2664186 RGD:628866 608554 HGNC:18983 "ENST00000311034.7|NM_178864.4" +HGNC:7896 NPAT nuclear protein, coactivator of histone transcription protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "E14|p220" nuclear protein, ataxia-telangiectasia locus 1998-01-20 2016-05-24 2019-03-05 4863 ENSG00000149308 OTTHUMG00000166385 uc001pjz.6 X97186 NM_002519 CCDS41710 Q14207 "10995387|9205109" MGI:107605 RGD:1311947 601448 HGNC:7896 "ENST00000278612.9|NM_002519.3" +HGNC:30099 NPB neuropeptide B protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "PPL7|PPNPB" prepro-NPB Neuropeptides 1902 2005-11-14 2014-11-19 256933 ENSG00000183979 OTTHUMG00000177983 uc002kcd.4 NM_148896 CCDS11790 Q8NG41 "12118011|12401809" MGI:2387153 RGD:708513 607996 ligandId:1500 HGNC:30099 "ENST00000333383.8|NM_148896.5" +HGNC:4522 NPBWR1 neuropeptides B and W receptor 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 GPR7 "G protein-coupled receptor 7|neuropeptides B/W receptor 1" Neuropeptides B and W receptors 242 1994-07-25 2006-02-15 2016-12-21 2021-08-17 2831 ENSG00000288611 OTTHUMG00000164275 uc011ldu.3 BC033145 NM_005285 CCDS6151 P48145 "7590751|12401809" MGI:891989 RGD:1305917 600730 objectId:303 HGNC:4522 "ENST00000674939.1|NM_005285.5" +HGNC:4530 NPBWR2 neuropeptides B and W receptor 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 GPR8 "G protein-coupled receptor 8|neuropeptides B/W receptor 2" Neuropeptides B and W receptors 242 1994-07-25 2006-02-15 2016-12-21 2016-12-21 2832 ENSG00000125522 OTTHUMG00000033032 uc011abt.3 U22492 NM_005286 CCDS13557 P48146 12401809 600731 objectId:304 HGNC:4530 "ENST00000684052.1|NM_005286.4" +HGNC:7897 NPC1 NPC intracellular cholesterol transporter 1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 SLC65A1 Niemann-Pick disease, type C1 Solute carriers 752 1993-04-13 2016-05-03 2021-05-26 4864 ENSG00000141458 OTTHUMG00000131873 uc002kum.5 AF002020 NM_000271 CCDS11878 O15118 8446622 MGI:1097712 RGD:628693 607623 123868 objectId:3051 HGNC:7897 "ENST00000269228.10|NM_000271.5" HGNC:7897 +HGNC:7898 NPC1L1 NPC1 like intracellular cholesterol transporter 1 protein-coding gene gene with protein product Approved 7p13 07p13 SLC65A2 "NPC1 (Niemann-Pick disease, type C1, gene)-like 1|NPC1-like 1|NPC1 like 1" Solute carriers 752 2000-02-29 2016-05-03 2017-11-24 29881 ENSG00000015520 OTTHUMG00000023691 uc003tlb.4 NM_013389 "CCDS43575|CCDS75587|CCDS5491" Q9UHC9 10783261 MGI:2685089 RGD:1303135 608010 421441 objectId:2629 HGNC:7898 "ENST00000381160.8|NM_001101648.2" +HGNC:14537 NPC2 NPC intracellular cholesterol transporter 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "HE1|NP-C2|EDDM1" epididymal protein 1 Niemann-Pick disease, type C2 "MicroRNA protein coding host genes|MD-2 related lipid recognition domain containing" "1691|2129" 2001-05-11 2016-05-03 2021-05-26 10577 ENSG00000119655 OTTHUMG00000171212 uc010tus.3 X67698 NM_006432 "CCDS86413|CCDS32121" P61916 "8418812|11125141" MGI:1915213 RGD:628756 601015 123870 HGNC:14537 "ENST00000555619.6|NM_006432.5" HGNC:14537 +HGNC:7899 NPDC1 neural proliferation, differentiation and control 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "DKFZp586J0523|CAB-|CAB1" 2000-08-11 2016-06-15 2016-09-09 56654 ENSG00000107281 OTTHUMG00000020956 uc004ckt.3 AF285836 NM_015392 CCDS7024 Q9NQX5 11245976 MGI:1099802 RGD:1303156 605798 HGNC:7899 "ENST00000371601.5|NM_015392.4" +HGNC:16244 NPEPL1 aminopeptidase like 1 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "FLJ11583|bA261P9.2" Aminopeptidases 104 2001-07-17 2017-06-13 2017-06-13 79716 ENSG00000215440 OTTHUMG00000033060 uc010zzs.2 AK021645 NM_024663 "CCDS56200|CCDS46621|CCDS56201" Q8NDH3 14702039 MGI:2448523 RGD:1311351 M17.006 objectId:1563 HGNC:16244 "ENST00000356091.11|NM_024663.4" +HGNC:7900 NPEPPS aminopeptidase puromycin sensitive protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "PSA|MP100" "puromycin-sensitive aminopeptidase|metalloproteinase MP100" "Aminopeptidases|M1 metallopeptidases" "104|1437" 1999-12-09 2016-10-05 9520 ENSG00000141279 OTTHUMG00000165471 uc002ilr.5 Y07701 NM_006310 "CCDS45721|CCDS82149" P55786 "9048733|10329370" MGI:1101358 RGD:619962 606793 M01.010 objectId:1575 3.4.11.2 HGNC:7900 "ENST00000322157.9|NM_006310.4" +HGNC:44259 NPEPPSP1 NPEPPS pseudogene 1 pseudogene pseudogene Approved 17q12 17q12 2019-08-27 2019-08-27 440434 ENSG00000274487 OTTHUMG00000188488 NR_036750 HGNC:44259 +HGNC:7901 NPFF neuropeptide FF-amide peptide precursor protein-coding gene gene with protein product Approved 12q13.13 12q13.13 FMRFAL Neuropeptides 1902 1999-09-07 2015-08-25 8620 ENSG00000139574 OTTHUMG00000169856 uc001sdw.1 AF005271 NM_003717 CCDS8862 O15130 9224703 MGI:1891708 RGD:62033 604643 ligandId:3735 HGNC:7901 "ENST00000267017.4|NM_003717.4" +HGNC:17425 NPFFR1 neuropeptide FF receptor 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "OT7T022|NPFF1R1" neuropeptide FF 1 GPR147 G protein-coupled receptor 147 Neuropeptide FF receptors 240 2004-05-27 2006-02-15 2006-02-15 2016-10-05 64106 ENSG00000148734 OTTHUMG00000018404 uc021psj.2 AB040104 NM_022146 CCDS53539 Q9GZQ6 11024015 MGI:2685082 RGD:621570 607448 objectId:300 HGNC:17425 "ENST00000277942.7|NM_022146.5" +HGNC:4525 NPFFR2 neuropeptide FF receptor 2 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "NPFF2|NPGPR" neuropeptide FF 2 GPR74 G protein-coupled receptor 74 Neuropeptide FF receptors 240 1999-07-30 2006-02-15 2006-02-15 2016-10-05 10886 ENSG00000056291 OTTHUMG00000129918 uc003hgh.3 AF236083 NM_004885 "CCDS3552|CCDS47072" Q9Y5X5 "10079187|10851242" MGI:1860130 RGD:620168 607449 objectId:301 HGNC:4525 "ENST00000308744.12|NM_004885.3" +HGNC:7905 NPHP1 nephrocystin 1 protein-coding gene gene with protein product Approved 2q13 02q13 "JBTS4|SLSN1" NPH1 nephronophthisis 1 (juvenile) NPHP complex 1546 1991-08-08 2016-05-16 2021-05-26 4867 ENSG00000144061 OTTHUMG00000131195 uc002tfl.6 AF023674 NM_000272 "CCDS46385|CCDS2086|CCDS46386|CCDS46384" O15259 MGI:1858233 RGD:1308136 607100 123874 HGNC:7905 "ENST00000445609.7|NM_001128178.3" HGNC:7905 +HGNC:7907 NPHP3 nephrocystin 3 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "NPH3|KIAA2000|FLJ30691|FLJ36696|MKS7|SLSN3|CFAP31" "Meckel syndrome, type 7|cilia and flagella associated protein 31" nephronophthisis 3 (adolescent) "Tetratricopeptide repeat domain containing|Cilia and flagella associated" "769|1491" 2000-01-20 2016-05-16 2021-05-26 27031 ENSG00000113971 OTTHUMG00000159713 uc003epe.3 AB056657 NM_153240 CCDS3078 Q7Z494 "12872122|15381417" MGI:1921275 RGD:1563856 608002 123878 HGNC:7907 "ENST00000337331.10|NM_153240.5" HGNC:7907 +HGNC:48351 NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) other readthrough Approved 3q22.1 03q22.1 2013-09-30 2015-01-08 100532724 ENSG00000274810 OTTHUMG00000187276 NR_037804 HGNC:48351 +HGNC:24129 NPHP3-AS1 NPHP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q22.1 03q22.1 NCRNA00119 "non-protein coding RNA 119|NPHP3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-09-12 2011-08-11 2012-08-15 2014-11-19 348808 ENSG00000248724 OTTHUMG00000159854 uc003epg.2 BC048124 NR_002811 12477932 NPHP3-AS1 HGNC:24129 +HGNC:19104 NPHP4 nephrocystin 4 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "SLSN4|KIAA0673|POC10" "nephroretinin|POC10 centriolar protein homolog (Chlamydomonas)" nephronophthisis 4 NPHP complex 1546 2002-10-03 2016-05-16 2021-05-26 261734 ENSG00000131697 OTTHUMG00000000701 uc001alq.3 AB014573 NM_001291593 CCDS44052 O75161 "11920287|12205563" MGI:2384210 RGD:1560172 607215 123884 HGNC:19104 "ENST00000378156.9|NM_015102.5" HGNC:19104 +HGNC:7908 NPHS1 NPHS1 adhesion molecule, nephrin protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "CNF|NPHN" "nephrosis 1, congenital, Finnish type (nephrin)|NPHS1, nephrin" "Fibronectin type III domain containing|V-set domain containing|C2-set domain containing" "555|590|592" 1994-12-14 2019-01-25 2021-04-13 4868 ENSG00000161270 OTTHUMG00000180689 uc002oby.4 NM_004646 CCDS32996 O60500 "9915943|9660941" MGI:1859637 RGD:620460 LRG_693|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_693.xml 602716 123889 HGNC:7908 "ENST00000378910.10|NM_004646.4" HGNC:7908 +HGNC:13394 NPHS2 NPHS2 stomatin family member, podocin protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "SRN1|PDCN" "nephrosis 2, idiopathic, steroid-resistant (podocin)|NPHS2, podocin" Stomatin family 1734 2000-11-21 2019-01-25 2021-05-26 7827 ENSG00000116218 OTTHUMG00000035252 uc001gmq.5 AJ279254 NM_001297575 "CCDS1331|CCDS72988" Q9NP85 "8589695|10742096" MGI:2157018 RGD:620461 LRG_887|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_887.xml 604766 123893 HGNC:13394 "ENST00000367615.9|NM_014625.4" HGNC:13394 +HGNC:7909 NPIPA1 nuclear pore complex interacting protein family member A1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 morpheus NPIP "nuclear pore complex interacting protein|nuclear pore complex interacting protein family, member A1" 1999-03-09 2013-06-11 2015-11-18 2015-11-18 9284 ENSG00000183426 OTTHUMG00000090663 AC002045 NM_006985 CCDS10557 Q9UND3 "11586358|18055785" 606406 HGNC:7909 "ENST00000328085.10|NM_006985.4" +HGNC:41979 NPIPA2 nuclear pore complex interacting protein family member A2 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 nuclear pore complex interacting protein family, member A2 2013-06-11 2015-11-18 2015-11-18 642799 ENSG00000254852 OTTHUMG00000166264 NM_001277324 CCDS59263 E9PIF3 HGNC:41979 +HGNC:41978 NPIPA3 nuclear pore complex interacting protein family member A3 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 nuclear pore complex interacting protein family, member A3 2013-06-11 2015-11-18 2016-11-09 642778 ENSG00000224712 OTTHUMG00000166262 NM_001277323 CCDS59262 F8WFD2 HGNC:41978 +HGNC:41980 NPIPA5 nuclear pore complex interacting protein family member A5 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 nuclear pore complex interacting protein family, member A5 2013-06-11 2015-11-18 2015-11-18 100288332 ENSG00000183793 OTTHUMG00000166305 NM_001277325 "CCDS59264|CCDS86506" E9PKD4 HGNC:41980 "ENST00000360151.9|NM_001277325.2" +HGNC:41982 NPIPA7 nuclear pore complex interacting protein family member A7 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 nuclear pore complex interacting protein family, member A7 2013-06-11 2015-11-18 2020-04-20 101059938 ENSG00000214967 OTTHUMG00000166307 NM_001282507 CCDS61864 E9PJI5 HGNC:41982 +HGNC:41983 NPIPA8 nuclear pore complex interacting protein family member A8 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 LCR16a9 morpheus gene family member 9 nuclear pore complex interacting protein family, member A8 2013-06-11 2015-11-18 2020-04-20 101059953 ENSG00000214940 OTTHUMG00000166284 NM_001282511 CCDS61865 P0DM63 11586358 HGNC:41983 +HGNC:41984 NPIPA9 nuclear pore complex interacting protein family, member A9 other unknown Approved 16p12.3 16p12.3 2018-08-03 2020-04-20 105376752 ENSG00000233024 OTTHUMG00000166286 NG_053050 HGNC:41984 +HGNC:37452 NPIPB1P nuclear pore complex interacting protein family member B1, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 nuclear pore complex interacting protein family, member B1, pseudogene 2013-06-11 2015-11-18 2015-11-18 729602 ENSG00000257513 OTTHUMG00000170512 NG_023368 PGOHUM00000259246 HGNC:37452 +HGNC:37451 NPIPB2 nuclear pore complex interacting protein family member B2 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 2016-09-26 2019-08-21 2019-08-21 729978 ENSG00000234719 OTTHUMG00000166261 NM_001355514 A6NJ64 HGNC:37451 +HGNC:28989 NPIPB3 nuclear pore complex interacting protein family member B3 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 KIAA0220 NPIPL3 "nuclear pore complex interacting protein-like 3|nuclear pore complex interacting protein family, member B3" 2009-03-26 2013-06-11 2015-11-18 2015-11-18 23117 ENSG00000169246 OTTHUMG00000163506 NM_130464 Q92617 11948212 HGNC:28989 +HGNC:41985 NPIPB4 nuclear pore complex interacting protein family member B4 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 nuclear pore complex interacting protein family, member B4 2013-06-11 2015-11-18 2015-11-18 440345 ENSG00000185864 OTTHUMG00000163555 NM_001310148 C9JG80 HGNC:41985 "ENST00000682606.1|NM_001384980.1" +HGNC:37233 NPIPB5 nuclear pore complex interacting protein family member B5 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 nuclear pore complex interacting protein family, member B5 2013-06-11 2015-11-18 2015-11-18 100132247 ENSG00000243716 OTTHUMG00000163573 NM_001135865 CCDS45443 A8MRT5 HGNC:37233 +HGNC:37454 NPIPB6 nuclear pore complex interacting protein family member B6 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 nuclear pore complex interacting protein family, member B6 2013-06-11 2015-11-18 2018-11-16 728741 ENSG00000198156 OTTHUMG00000166319 NM_001282524 CCDS61892 E9PJ23 HGNC:37454 +HGNC:33832 NPIPB7 nuclear pore complex interacting protein family member B7 other unknown Approved 16p12.1 16p12.1 LOC440350 NPIPL1 "nuclear pore complex interacting protein-like 1|nuclear pore complex interacting protein family, member B7" 2009-02-10 2013-06-11 2015-11-18 2019-06-26 440350 ENSG00000233232 OTTHUMG00000156915 "BC156858|AC002425" NG_023370 O75200 HGNC:33832 +HGNC:37490 NPIPB8 nuclear pore complex interacting protein family member B8 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 nuclear pore complex interacting protein family, member B8 2013-06-11 2015-11-18 2018-11-16 728734 ENSG00000255524 OTTHUMG00000166386 NM_001310136 CCDS81963 E9PQR5 HGNC:37490 "ENST00000683297.1|NM_001310136.2" +HGNC:41987 NPIPB9 nuclear pore complex interacting protein family member B9 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 nuclear pore complex interacting protein family, member B9 2013-06-11 2015-11-18 2020-04-20 100507607 ENSG00000196993 OTTHUMG00000170452 NM_001287250 CCDS73858 F8W1W9 HGNC:41987 +HGNC:37455 NPIPB10P nuclear pore complex interacting protein family, member B10, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 2016-09-26 2016-09-26 730153 ENSG00000196796 OTTHUMG00000170453 NG_023380 PGOHUM00000305919 HGNC:37455 +HGNC:37453 NPIPB11 nuclear pore complex interacting protein family member B11 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 nuclear pore complex interacting protein family, member B11 2013-06-11 2015-11-18 2018-11-16 728888 ENSG00000254206 OTTHUMG00000170467 NM_001310137 E5RHQ5 HGNC:37453 +HGNC:37491 NPIPB12 nuclear pore complex interacting protein family member B12 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2016-09-26 2019-06-26 2019-06-26 440353 ENSG00000169203 OTTHUMG00000163547 NM_001355401 F8W0I5 HGNC:37491 +HGNC:41989 NPIPB13 nuclear pore complex interacting protein family, member B13 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2016-09-26 2016-09-26 613037 ENSG00000198064 OTTHUMG00000163556 NM_001321892 CCDS81968 A6NJU9 HGNC:41989 +HGNC:41990 NPIPB14P nuclear pore complex interacting protein family member B14, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 2016-09-26 2017-02-27 2017-02-27 109729168 ENSG00000226232 OTTHUMG00000167594 NG_052915 PGOHUM00000293639 HGNC:41990 +HGNC:34409 NPIPB15 nuclear pore complex interacting protein family member B15 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 LOC440348 NPIPL2 "nuclear pore complex interacting protein-like 2|nuclear pore complex interacting protein family, member B15" 2009-02-10 2013-06-11 2015-11-18 2016-10-05 440348 ENSG00000196436 OTTHUMG00000156916 BC160029 NM_001018059 CCDS76897 A6NHN6 HGNC:34409 "ENST00000692376.1|NM_001306094.2" +HGNC:35407 NPIPP1 nuclear pore complex interacting protein pseudogene 1 pseudogene pseudogene Approved 16p13.11 16p13.11 2009-07-07 2020-04-20 100874381 ENSG00000188599 OTTHUMG00000184230 NG_032198 PGOHUM00000293434 HGNC:35407 +HGNC:16781 NPL N-acetylneuraminate pyruvate lyase protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "NPL1|DHDPS1" dihydrodipicolinate synthetase homolog 1 (E. coli) C1orf13 "chromosome 1 open reading frame 13|N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)" 2001-10-05 2003-09-17 2016-06-03 2016-10-05 80896 ENSG00000135838 OTTHUMG00000035321 uc057nuk.1 AF338436 NM_030769 "CCDS55667|CCDS72990|CCDS55666|CCDS1350" Q9BXD5 11318611 MGI:1921341 RGD:1549702 611412 4.1.3.3 HGNC:16781 "ENST00000367553.6|NM_030769.3" +HGNC:18261 NPLOC4 NPL4 homolog, ubiquitin recognition factor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "NPL4|FLJ20657|KIAA1499" "nuclear protein localization 4 homolog (S. cerevisiae)|NPLOC4 ubiquitin recognition factor" Zinc fingers 26 2006-01-25 2015-07-02 2017-04-28 55666 ENSG00000182446 OTTHUMG00000177990 uc002kat.5 AB040932 NM_017921 CCDS45812 Q8TAT6 "11574150|10811609|24429874" MGI:2679787 RGD:620794 606590 HGNC:18261 "ENST00000331134.11|NM_017921.4" +HGNC:54747 NPLP1 NPL pseudogene 1 pseudogene pseudogene Approved 2p22.1 02p22.1 2019-12-19 2019-12-19 100529111 ENSG00000232114 NG_028076 +HGNC:7910 NPM1 nucleophosmin 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "B23|NPM" "nucleolar phosphoprotein B23|numatrin|nucleophosmin/nucleoplasmin family, member 1" "nucleophosmin (nucleolar phosphoprotein B23, numatrin)|nucleophosmin" 1993-08-24 2017-07-07 2021-04-13 4869 ENSG00000181163 OTTHUMG00000130465 uc032vtc.2 M26697 NM_002520 "CCDS4376|CCDS4377|CCDS43399" P06748 "8471164|8122112" MGI:106184 RGD:3192 LRG_458|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_458.xml NPM1 164040 159793 HGNC:7910 "ENST00000296930.10|NM_002520.7" HGNC:7910 +HGNC:7911 NPM1P1 nucleophosmin 1 pseudogene 1 pseudogene pseudogene Approved 18q12.3 18q12.3 NG1-1.6 NPMP1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 1 1993-08-24 2016-06-27 2018-12-14 4870 ENSG00000267652 OTTHUMG00000178311 L15315 NG_001162 8471164 PGOHUM00000234923 HGNC:7911 +HGNC:7922 NPM1P2 nucleophosmin 1 pseudogene 2 pseudogene pseudogene Approved 18q11.2 18q11.2 NG2-6 NPMP2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 2 1993-08-24 2016-06-27 2017-10-26 4871 ENSG00000266227 OTTHUMG00000179428 X54171 NG_009868 "8471164|2157848" PGOHUM00000294755 HGNC:7922 +HGNC:7923 NPM1P3 nucleophosmin 1 pseudogene 3 pseudogene pseudogene Approved 16p13.3 16p13.3 NG3-3 "NPMP3|NPM1P15" "nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 15|nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 3" 1993-08-24 2016-06-27 2020-04-07 4872 ENSG00000261007 OTTHUMG00000177114 L15316 NG_001163 8471164 PGOHUM00000248978 HGNC:7923 +HGNC:7924 NPM1P4 nucleophosmin 1 pseudogene 4 pseudogene pseudogene Approved 13q12.2 13q12.2 NG4-5 NPMP4 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 4 1993-08-24 2016-06-27 2016-06-27 100128903 ENSG00000226703 OTTHUMG00000016636 L15317 NG_011457 8471164 PGOHUM00000248344 HGNC:7924 +HGNC:7925 NPM1P5 nucleophosmin 1 pseudogene 5 pseudogene pseudogene Approved 15q26.1 15q26.1 NG5-4 NPMP5 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 5 1993-08-24 2016-06-27 2016-06-27 4874 ENSG00000258925 OTTHUMG00000171702 L15318 NG_001165 8471164 PGOHUM00000247275 HGNC:7925 +HGNC:7926 NPM1P6 nucleophosmin 1 pseudogene 6 pseudogene pseudogene Approved 8q12.2 08q12.2 NG6-4 NPMP6 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 1993-08-24 2016-06-27 2016-06-27 4875 ENSG00000213881 OTTHUMG00000164349 L15319 NG_001166 8471164 PGOHUM00000249688 HGNC:7926 +HGNC:7927 NPM1P7 nucleophosmin 1 pseudogene 7 pseudogene pseudogene Approved 12p13.31 12p13.31 NG7-6 "NPMP7|NPM1P16" "nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 16|nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 7" 1993-08-24 2016-06-27 2020-04-20 10831 ENSG00000213443 OTTHUMG00000168370 "L15320|AC007068" NG_001167 8471164 HGNC:7927 +HGNC:7928 NPM1P8 nucleophosmin 1 pseudogene 8 pseudogene pseudogene Approved Xp21.1 Xp21.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 8 1999-05-28 2016-06-27 2020-04-20 100130233 ENSG00000236285 OTTHUMG00000021333 NG_022651 PGOHUM00000241691 HGNC:7928 +HGNC:7929 NPM1P9 nucleophosmin 1 pseudogene 9 pseudogene pseudogene Approved Xp22.2 Xp22.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 9 1999-05-28 2016-06-27 2016-06-27 392428 ENSG00000231066 OTTHUMG00000021167 AF164687 NG_005106 PGOHUM00000241194 HGNC:7929 +HGNC:7912 NPM1P10 nucleophosmin 1 pseudogene 10 pseudogene pseudogene Approved 6q16.3 06q16.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 10 1999-07-22 2016-06-27 2016-06-27 10837 ENSG00000214428 OTTHUMG00000015284 AL021330 NG_009882 PGOHUM00000243311 HGNC:7912 +HGNC:7913 NPM1P11 nucleophosmin 1 pseudogene 11 pseudogene pseudogene Approved 7p21.3 07p21.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 11 1999-07-22 2016-06-27 2016-06-27 10836 ENSG00000226827 OTTHUMG00000152312 AC004538 NG_022930 PGOHUM00000232592 HGNC:7913 +HGNC:7914 NPM1P12 nucleophosmin 1 pseudogene 12 pseudogene pseudogene Approved 7q36.1 07q36.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 12 1999-07-22 2016-06-27 2016-06-27 10835 ENSG00000215311 OTTHUMG00000151505 AC004941 NG_000887 PGOHUM00000233644 HGNC:7914 +HGNC:7915 NPM1P13 nucleophosmin 1 pseudogene 13 pseudogene pseudogene Approved 7p21.1 07p21.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 13 1999-07-22 2016-06-27 2016-06-27 10834 ENSG00000232492 OTTHUMG00000152542 AC004994 NG_023250 PGOHUM00000232605 HGNC:7915 +HGNC:7916 NPM1P14 nucleophosmin 1 pseudogene 14 pseudogene pseudogene Approved 7q31.1 07q31.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 14 1999-07-22 2016-06-27 2016-06-27 10833 ENSG00000182965 OTTHUMG00000155193 AC005192 NG_000885 PGOHUM00000233532 HGNC:7916 +HGNC:7919 NPM1P17 nucleophosmin 1 pseudogene 17 pseudogene pseudogene Approved 3q22.3 03q22.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 17 1999-07-22 2016-06-27 2016-06-27 10830 ENSG00000242070 OTTHUMG00000159756 AF164688 NG_001233 PGOHUM00000238208 HGNC:7919 +HGNC:7920 NPM1P18 nucleophosmin 1 pseudogene 18 pseudogene pseudogene Approved 7p14.2 07p14.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 18 1999-07-22 2016-06-27 2016-06-27 10829 ENSG00000225739 OTTHUMG00000154947 AF164689 NG_001232 PGOHUM00000233185 HGNC:7920 +HGNC:7921 NPM1P19 nucleophosmin 1 pseudogene 19 pseudogene pseudogene Approved 20q11.23 20q11.23 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 19 1999-07-22 2016-06-27 2016-10-05 10828 ENSG00000223864 OTTHUMG00000032459 AF164690 NG_001231 PGOHUM00000247531 HGNC:7921 +HGNC:20140 NPM1P20 nucleophosmin 1 pseudogene 20 pseudogene pseudogene Approved 14q32.31 14q32.31 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 20 2003-01-13 2016-06-27 2020-04-07 326608 ENSG00000259161 OTTHUMG00000171643 NG_002597 PGOHUM00000247894 HGNC:20140 +HGNC:13855 NPM1P21 nucleophosmin 1 pseudogene 21 pseudogene pseudogene Approved 8q12.1 08q12.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 21 2005-10-06 2016-06-27 2016-06-27 100129237 ENSG00000248578 OTTHUMG00000160268 NG_011601 PGOHUM00000249348 HGNC:13855 +HGNC:39679 NPM1P22 nucleophosmin 1 pseudogene 22 pseudogene pseudogene Approved 13q21.32 13q21.32 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 22 2011-03-22 2016-06-27 2016-06-27 390411 ENSG00000227969 OTTHUMG00000017044 NG_011393 PGOHUM00000248424 HGNC:39679 +HGNC:44513 NPM1P23 nucleophosmin 1 pseudogene 23 pseudogene pseudogene Approved 3p24.2 03p24.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 23 2012-11-13 2016-06-27 2016-06-27 100422256 ENSG00000242109 OTTHUMG00000155663 NG_025558 PGOHUM00000237558 HGNC:44513 +HGNC:45097 NPM1P24 nucleophosmin 1 pseudogene 24 pseudogene pseudogene Approved 10q22.1 10q22.1 "nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene|nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 24" 2013-02-15 2016-06-27 2016-06-27 100422312 ENSG00000215086 OTTHUMG00000018445 NG_025446 PGOHUM00000238528 HGNC:45097 +HGNC:45204 NPM1P25 nucleophosmin 1 pseudogene 25 pseudogene pseudogene Approved 10q24.1 10q24.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 25 2013-03-07 2016-06-27 2016-06-27 399804 ENSG00000229417 OTTHUMG00000018826 NG_022156 PGOHUM00000238599 HGNC:45204 +HGNC:45205 NPM1P26 nucleophosmin 1 pseudogene 26 pseudogene pseudogene Approved 10q24.1 10q24.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 26 2013-03-07 2016-06-27 2016-06-27 100422313 ENSG00000235677 OTTHUMG00000018835 NG_025538 PGOHUM00000238901 HGNC:45205 +HGNC:45206 NPM1P27 nucleophosmin 1 pseudogene 27 pseudogene pseudogene Approved 5q15 05q15 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 27 2013-03-07 2016-06-27 2016-06-27 100422243 ENSG00000249353 OTTHUMG00000162646 NG_024611 PGOHUM00000235312 HGNC:45206 +HGNC:45207 NPM1P28 nucleophosmin 1 pseudogene 28 pseudogene pseudogene Approved 3q24 03q24 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 28 2013-03-07 2016-06-27 2016-06-27 646849 ENSG00000240804 OTTHUMG00000159461 NG_022222 PGOHUM00000237806 HGNC:45207 +HGNC:45208 NPM1P29 nucleophosmin 1 pseudogene 29 pseudogene pseudogene Approved 3q25.1 03q25.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 29 2013-03-07 2016-06-27 2016-06-27 100422259 ENSG00000239351 OTTHUMG00000159734 NG_025640 PGOHUM00000237818 HGNC:45208 +HGNC:45209 NPM1P30 nucleophosmin 1 pseudogene 30 pseudogene pseudogene Approved 10p12.31 10p12.31 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 30 2013-03-07 2016-06-27 2016-06-27 101928904 ENSG00000228219 OTTHUMG00000017787 NG_046378 PGOHUM00000238690 HGNC:45209 +HGNC:45210 NPM1P31 nucleophosmin 1 pseudogene 31 pseudogene pseudogene Approved 10q26.13 10q26.13 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 31 2013-03-07 2016-06-27 2016-06-27 100287472 ENSG00000214807 OTTHUMG00000019219 NG_022193 PGOHUM00000238963 HGNC:45210 +HGNC:45211 NPM1P32 nucleophosmin 1 pseudogene 32 pseudogene pseudogene Approved 2q14.3 02q14.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 32 2013-03-07 2016-06-27 2016-06-27 440902 ENSG00000213239 OTTHUMG00000153347 NG_021520 PGOHUM00000240277 HGNC:45211 +HGNC:45212 NPM1P33 nucleophosmin 1 pseudogene 33 pseudogene pseudogene Approved 2q33.2 02q33.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 33 2013-03-07 2016-06-27 2016-06-27 100131478 ENSG00000213925 OTTHUMG00000154626 NG_021548 PGOHUM00000240496 HGNC:45212 +HGNC:45213 NPM1P34 nucleophosmin 1 pseudogene 34 pseudogene pseudogene Approved Xq25 Xq25 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 34 2013-03-07 2016-06-27 2016-06-27 100128410 ENSG00000232054 OTTHUMG00000022342 NG_022699 PGOHUM00000241994 HGNC:45213 +HGNC:45214 NPM1P35 nucleophosmin 1 pseudogene 35 pseudogene pseudogene Approved 11q12.3 11q12.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 35 2013-03-07 2016-06-27 2016-06-27 100129067 ENSG00000255213 OTTHUMG00000167511 NG_021821 PGOHUM00000242757 HGNC:45214 +HGNC:45215 NPM1P36 nucleophosmin 1 pseudogene 36 pseudogene pseudogene Approved 6p12.1 06p12.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 36 2013-03-07 2016-06-27 2016-06-27 652423 ENSG00000214604 OTTHUMG00000014904 NG_022300 PGOHUM00000243210 HGNC:45215 +HGNC:45216 NPM1P37 nucleophosmin 1 pseudogene 37 pseudogene pseudogene Approved 6q13 06q13 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 37 2013-03-07 2016-06-27 2016-06-27 100422261 ENSG00000219085 OTTHUMG00000014983 NG_025830 PGOHUM00000243239 HGNC:45216 +HGNC:45217 NPM1P38 nucleophosmin 1 pseudogene 38 pseudogene pseudogene Approved 6q16.3 06q16.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 38 2013-03-07 2016-06-27 2016-10-05 100128985 ENSG00000219257 OTTHUMG00000015272 NG_022318 PGOHUM00000243306 HGNC:45217 +HGNC:45218 NPM1P39 nucleophosmin 1 pseudogene 39 pseudogene pseudogene Approved 1p36.11 01p36.11 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 39 2013-03-07 2016-06-27 2016-06-27 440577 ENSG00000225159 OTTHUMG00000004280 NG_022773 PGOHUM00000244647 HGNC:45218 +HGNC:45219 NPM1P40 nucleophosmin 1 pseudogene 40 pseudogene pseudogene Approved 1q32.1 01q32.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 40 2013-03-07 2016-06-27 2016-06-27 100289584 ENSG00000236523 OTTHUMG00000042124 NG_022825 PGOHUM00000245167 HGNC:45219 +HGNC:45220 NPM1P41 nucleophosmin 1 pseudogene 41 pseudogene pseudogene Approved 4q21.22 04q21.22 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 41 2013-03-07 2016-06-27 2016-06-27 100422249 ENSG00000248543 OTTHUMG00000160939 NG_025136 PGOHUM00000245611 HGNC:45220 +HGNC:45221 NPM1P42 nucleophosmin 1 pseudogene 42 pseudogene pseudogene Approved 15q24.1 15q24.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 42 2013-03-07 2016-06-27 2016-06-27 729686 ENSG00000259259 OTTHUMG00000172550 NG_022113 PGOHUM00000246845 HGNC:45221 +HGNC:45222 NPM1P43 nucleophosmin 1 pseudogene 43 pseudogene pseudogene Approved 15q24.1 15q24.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 43 2013-03-07 2016-06-27 2016-06-27 100422309 ENSG00000259440 OTTHUMG00000172552 NG_025336 PGOHUM00000246847 HGNC:45222 +HGNC:45223 NPM1P44 nucleophosmin 1 pseudogene 44 pseudogene pseudogene Approved 8q13.2 08q13.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 44 2013-03-07 2016-06-27 2016-06-27 100422270 NG_026109 PGOHUM00000249696 HGNC:45223 +HGNC:45224 NPM1P45 nucleophosmin 1 pseudogene 45 pseudogene pseudogene Approved 17p13.1 17p13.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 45 2013-03-07 2016-06-27 2016-06-27 100422316 ENSG00000265593 OTTHUMG00000178430 NG_026145 PGOHUM00000236919 HGNC:45224 +HGNC:45225 NPM1P46 nucleophosmin 1 pseudogene 46 pseudogene pseudogene Approved 2q33.1 02q33.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 46 2013-03-07 2016-06-27 2016-06-27 729342 ENSG00000213104 OTTHUMG00000154445 NG_021545 PGOHUM00000240473 HGNC:45225 +HGNC:45226 NPM1P47 nucleophosmin 1 pseudogene 47 pseudogene pseudogene Approved 15q22.2 15q22.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 47 2013-03-07 2016-06-27 2016-06-27 100129972 ENSG00000259466 OTTHUMG00000171958 NG_022111 PGOHUM00000246811 HGNC:45226 +HGNC:45227 NPM1P48 nucleophosmin 1 pseudogene 48 pseudogene pseudogene Approved 2p25.2 02p25.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 48 2013-03-07 2016-06-27 2016-06-27 442006 ENSG00000231821 OTTHUMG00000151582 NG_021491 PGOHUM00000239968 HGNC:45227 +HGNC:45228 NPM1P49 nucleophosmin 1 pseudogene 49 pseudogene pseudogene Approved Xp11.3 Xp11.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 49 2013-03-07 2016-06-27 2016-10-05 100422284 ENSG00000226556 OTTHUMG00000021442 NG_026690 PGOHUM00000241272 HGNC:45228 +HGNC:45229 NPM1P50 nucleophosmin 1 pseudogene 50 pseudogene pseudogene Approved 11q13.4 11q13.4 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 50 2013-03-07 2016-06-27 2016-06-27 100129795 ENSG00000213333 OTTHUMG00000165369 NG_030170 PGOHUM00000242370 HGNC:45229 +HGNC:45230 NPM1P51 nucleophosmin 1 pseudogene 51 pseudogene pseudogene Approved 6p21.1 06p21.1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 51 2013-03-07 2016-06-27 2016-06-27 100130606 ENSG00000230913 OTTHUMG00000014682 NG_022355 PGOHUM00000243622 HGNC:45230 +HGNC:45231 NPM1P52 nucleophosmin 1 pseudogene 52 pseudogene pseudogene Approved 8q22.3 08q22.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 52 2013-03-07 2016-06-27 2016-06-27 100422272 ENSG00000253663 OTTHUMG00000164762 NG_026123 PGOHUM00000249762 HGNC:45231 +HGNC:7930 NPM2 nucleophosmin/nucleoplasmin 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 1999-05-28 2009-08-27 2014-11-19 10361 ENSG00000158806 OTTHUMG00000131129 uc003xad.5 AY262113 NM_182795 "CCDS6018|CCDS75703" Q86SE8 12714744 MGI:1890811 RGD:727816 608073 HGNC:7930 "ENST00000518119.6|NM_001286680.2" +HGNC:7931 NPM3 nucleophosmin/nucleoplasmin 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 1999-05-28 2009-08-27 2016-10-05 10360 ENSG00000107833 OTTHUMG00000018942 uc001ktt.3 AY049737 NM_006993 CCDS7519 O75607 11722795 MGI:894653 RGD:1565542 606456 HGNC:7931 +HGNC:27405 NPNT nephronectin protein-coding gene gene with protein product Approved 4q24 04q24 "EGFL6L|POEM" 2005-10-07 2015-02-24 255743 ENSG00000168743 OTTHUMG00000161189 uc003hya.4 NM_198278 "CCDS54785|CCDS54787|CCDS34046|CCDS54784|CCDS54786" Q6UXI9 15754038 MGI:2148811 RGD:1593709 610306 HGNC:27405 "ENST00000379987.7|NM_001033047.3" +HGNC:7939 NPPA natriuretic peptide A protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "ANP|PND" natriuretic peptide precursor A Neuropeptides 1902 1986-01-01 2010-11-09 2021-04-13 4878 ENSG00000175206 OTTHUMG00000002388 uc001ati.4 BC005893 NM_006172 CCDS139 P01160 MGI:97367 RGD:3193 LRG_751|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_751.xml 108780 205584 ligandId:4869 HGNC:7939 "ENST00000376480.7|NM_006172.4" HGNC:7939 +HGNC:37635 NPPA-AS1 NPPA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 "NPPAAS|NPPA-AS" "NPPA antisense RNA (non-protein coding)|NPPA antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-11-27 2010-11-25 2012-08-15 2012-10-12 100379251 ENSG00000242349 OTTHUMG00000002377 uc057cib.1 NR_037806 19671135 NPPA-AS1 HGNC:37635 +HGNC:7940 NPPB natriuretic peptide B protein-coding gene gene with protein product Approved 1p36.22 01p36.22 natriuretic peptide precursor B Neuropeptides 1902 1993-11-30 2010-11-09 2016-10-05 4879 ENSG00000120937 OTTHUMG00000002389 uc001atj.4 BC025785 NM_002521 CCDS140 P16860 2597152 MGI:97368 RGD:3194 600295 ligandId:4890 HGNC:7940 "ENST00000376468.4|NM_002521.3" +HGNC:7941 NPPC natriuretic peptide C protein-coding gene gene with protein product Approved 2q37.1 02q37.1 CNP natriuretic peptide precursor C Neuropeptides 1902 1993-11-30 2010-11-09 2014-11-19 4880 ENSG00000163273 OTTHUMG00000133232 uc002vsl.3 NM_024409 CCDS2489 P23582 "7698765|8330189" MGI:97369 RGD:620850 600296 ligandId:4896 HGNC:7941 "ENST00000409852.2|NM_024409.4" HGNC:7941 +HGNC:7943 NPR1 natriuretic peptide receptor 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "GUCY2A|ANPa" guanylate cyclase A "ANPRA|NPRA" "atrionatriuretic peptide receptor A|natriuretic peptide receptor A" Guanylate cyclase receptors 343 1990-03-27 2014-03-03 2016-10-05 4881 ENSG00000169418 OTTHUMG00000037085 uc001fcs.5 BC063304 NM_000906 CCDS1051 P16066 1979052 MGI:97371 RGD:3195 108960 objectId:1747 HGNC:7943 "ENST00000368680.4|NM_000906.4" +HGNC:7944 NPR2 natriuretic peptide receptor 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "GUCY2B|ANPb|GC-B" "guanylate cyclase 2B|guanylyl cyclase B" "ANPRB|NPRB|AMDM" "acromesomelic dysplasia, Maroteaux type|atrionatriuretic peptide receptor B|natriuretic peptide receptor B" "Guanylate cyclase receptors|DENN domain containing" "343|504" 1990-03-27 2014-03-03 2021-05-26 4882 ENSG00000159899 OTTHUMG00000019871 uc003zyd.4 AJ005282 NM_001378923 CCDS6590 P20594 "9634515|15146390" MGI:97372 RGD:620851 108961 123897 objectId:1748 HGNC:7944 "ENST00000342694.7|NM_003995.4" HGNC:7944 +HGNC:7945 NPR3 natriuretic peptide receptor 3 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "GUCY2B|FLJ14054" guanylate cyclase C "NPRC|ANPRC|C5orf23" "chromosome 5 open reading frame 23|atrionatriuretic peptide receptor C|natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)|natriuretic peptide receptor C" DENN domain containing 504 1990-03-27 2014-03-03 2014-11-19 4883 ENSG00000113389 OTTHUMG00000150316 uc003jhu.4 NM_000908 "CCDS56357|CCDS47196|CCDS87291|CCDS56356" P17342 "2162522|1979052" MGI:97373 RGD:3196 108962 objectId:1749 HGNC:7945 "ENST00000265074.13|NM_001204375.2" +HGNC:24969 NPRL2 NPR2 like, GATOR1 complex subunit protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "NPR2L|NPR2" TUSC4 "tumor suppressor candidate 4|nitrogen permease regulator-like 2 (S. cerevisiae)" GATOR1 subcomplex 1394 2004-01-20 2010-03-30 2017-06-13 2017-06-13 10641 ENSG00000114388 OTTHUMG00000156864 uc003daj.2 AF040708 NM_006545 CCDS2826 Q8WTW4 "15374952|18616680|23723238" MGI:1914482 RGD:1308927 607072 465703 HGNC:24969 "ENST00000232501.8|NM_006545.5" HGNC:24969 +HGNC:14124 NPRL3 NPR3 like, GATOR1 complex subunit protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CGTHBA|RMD11|NPR3|MARE|HS-40" conserved gene telomeric to alpha globin cluster C16orf35 "chromosome 16 open reading frame 35|nitrogen permease regulator-like 3 (S. cerevisiae)|NPR3-like, GATOR1 complex subunit" GATOR1 subcomplex 1394 2000-12-21 2010-03-30 2016-03-31 2016-03-31 8131 ENSG00000103148 OTTHUMG00000047792 uc059ogj.1 NM_001039476 "CCDS73794|CCDS73795" Q12980 8575760 MGI:109258 RGD:1308665 600928 465709 HGNC:14124 "ENST00000611875.5|NM_001077350.3" HGNC:14124 +HGNC:33940 NPS neuropeptide S protein-coding gene gene with protein product Approved 10q26.2 10q26.2 prepro-neuropeptide S Neuropeptides 1902 2008-01-17 2015-08-25 594857 ENSG00000214285 OTTHUMG00000188145 uc001ljx.2 BC148465 NM_001030013 CCDS41577 P0C0P6 "18181564|15312648" MGI:3642232 RGD:2324597 609513 ligandId:1490 HGNC:33940 "ENST00000398023.3|NM_001030013.2" +HGNC:23631 NPSR1 neuropeptide S receptor 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "PGR14|GPRA" GPR154 G protein-coupled receptor 154 Neuropeptide S receptor 241 2003-11-26 2006-05-10 2006-05-10 2014-11-19 387129 ENSG00000187258 OTTHUMG00000099383 uc003teg.1 AY255536 NM_207173 "CCDS75579|CCDS75581|CCDS5444|CCDS5443|CCDS75580" Q6W5P4 "12679517|15073379" MGI:2441738 RGD:1564154 608595 objectId:302 HGNC:23631 "ENST00000360581.6|NM_207172.2" +HGNC:22128 NPSR1-AS1 NPSR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 "AAA1|IMAGE:4827585" asthma-associated alternatively spliced gene 1 NPSR1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-23 2012-08-15 2012-10-12 404744 ENSG00000197085 OTTHUMG00000153007 uc010kwo.3 BC031961 NR_015356 15073379 608596 NPSR1-AS1 HGNC:22128 +HGNC:17867 NPTN neuroplastin protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "SDR1|GP55|GP65|np65|np55" SDFR1 stromal cell derived factor receptor 1 "I-set domain containing|Basigin family " "593|1669" 2002-11-21 2006-02-22 2006-02-22 2014-11-18 27020 ENSG00000156642 OTTHUMG00000137586 uc002avs.4 AF035287 NM_012428 "CCDS10249|CCDS10250|CCDS58380|CCDS58379" Q9Y639 "8619474|9110174" MGI:108077 RGD:620296 612820 objectId:3149 HGNC:17867 "ENST00000345330.9|NM_012428.4" +HGNC:45091 NPTN-IT1 NPTN intronic transcript 1 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 lncRNA-LET long non-coding RNA, low expression in tumor NPTN intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2013-02-11 2015-02-25 2016-11-24 101241892 ENSG00000281183 OTTHUMG00000189514 uc032cjb.2 AK055007 NR_103844 23395002 615176 lncrna-let NPTN-IT1 HGNC:45091 +HGNC:7952 NPTX1 neuronal pentraxin 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 neuronal pentraxin I Long pentraxins 1142 1995-05-12 2016-03-14 2019-04-16 4884 ENSG00000171246 OTTHUMG00000177607 uc002jyp.2 U61849 NM_002522 CCDS32762 Q15818 8884281 MGI:107811 RGD:628894 602367 HGNC:7952 "ENST00000306773.5|NM_002522.4" +HGNC:7953 NPTX2 neuronal pentraxin 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 apexin neuronal pentraxin II Long pentraxins 1142 1995-05-12 2016-03-14 2016-10-05 4885 ENSG00000106236 OTTHUMG00000154369 uc003upl.3 NM_002523 CCDS5657 P47972 8530029 MGI:1858209 RGD:1309447 600750 HGNC:7953 "ENST00000265634.4|NM_002523.3" +HGNC:7954 NPTXR neuronal pentraxin receptor protein-coding gene gene with protein product Approved 22q13.1 22q13.1 1999-10-13 2014-11-18 23467 ENSG00000221890 OTTHUMG00000150458 uc062eix.1 AF052163 NM_014293 CCDS33647 O95502 16497176 MGI:1920590 RGD:628898 609474 HGNC:7954 "ENST00000333039.4|NM_014293.4" +HGNC:13782 NPVF neuropeptide VF precursor protein-coding gene gene with protein product Approved 7p15.3 07p15.3 RFRP "RFamide-related peptide precursor|FMRFamide-related peptide precursor" C7orf9 chromosome 7 open reading frame 9 Neuropeptides 1902 2003-07-10 2006-10-06 2006-10-06 2015-01-28 64111 ENSG00000105954 OTTHUMG00000128509 uc003sxo.4 AB040290 NM_022150 CCDS5395 Q9HCQ7 "11951088|11173868" MGI:1926488 RGD:61815 616984 ligandId:5340 HGNC:13782 "ENST00000222674.2|NM_022150.3" +HGNC:30509 NPW neuropeptide W protein-coding gene gene with protein product Approved 16p13.3 16p13.3 PPL8 prepro-neuropeptide W Neuropeptides 1902 2005-09-02 2014-11-19 283869 ENSG00000183971 OTTHUMG00000176914 uc059pez.1 AB084276 NM_001099456 CCDS42102 Q8N729 "12118011|12401809" MGI:2685781 RGD:727858 607997 ligandId:1496 HGNC:30509 "ENST00000566435.4|NM_001099456.3" +HGNC:7955 NPY neuropeptide Y protein-coding gene gene with protein product Approved 7p15.3 07p15.3 PYY4 prepro-neuropeptide Y Neuropeptides 1902 2001-06-22 2014-11-19 4852 ENSG00000122585 OTTHUMG00000022973 uc003sww.3 K01911 NM_000905 CCDS5387 P01303 MGI:97374 RGD:3197 162640 ligandId:1504 HGNC:7955 "ENST00000242152.7|NM_000905.4" +HGNC:7956 NPY1R neuropeptide Y receptor Y1 protein-coding gene gene with protein product Approved 4q32.2 04q32.2 NPYR Neuropeptide Y receptors 243 1992-06-22 2015-07-22 4886 ENSG00000164128 OTTHUMG00000161371 uc003iqm.3 NM_000909 CCDS34089 P25929 8095935 MGI:104963 RGD:3198 162641 objectId:305 HGNC:7956 "ENST00000296533.3|NM_000909.6" +HGNC:7957 NPY2R neuropeptide Y receptor Y2 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 Neuropeptide Y receptors 243 1996-10-18 2015-08-25 4887 ENSG00000185149 OTTHUMG00000161485 uc003ioq.3 U42766 NM_000910 CCDS3791 P49146 7559383 MGI:108418 RGD:620475 162642 objectId:306 HGNC:7957 "ENST00000329476.4|NM_000910.4" +HGNC:55549 NPY2R-AS1 NPY2R antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q32.1 04q32.1 Antisense RNAs 1987 2021-03-25 2021-03-25 107986321 ENSG00000250538 XR_001741894 +HGNC:9329 NPY4R neuropeptide Y receptor Y4 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "Y4|PP1" PPYR1 pancreatic polypeptide receptor 1 Neuropeptide Y receptors 243 1996-04-12 2013-03-26 2013-03-26 2017-05-15 5540 ENSG00000204174 OTTHUMG00000018108 uc031wfd.1 NM_005972 CCDS73100 P50391 9417917 MGI:105374 RGD:61864 601790 objectId:307 HGNC:9329 "ENST00000374312.5|NM_005972.6" +HGNC:52383 NPY4R2 neuropeptide Y receptor Y4-2 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 CH17-360D5.1 2017-04-12 2017-09-13 2017-09-13 100996758 ENSG00000264717 OTTHUMG00000188323 NM_001278795 CCDS81459 P0DQD5 HGNC:52383 +HGNC:7958 NPY5R neuropeptide Y receptor Y5 protein-coding gene gene with protein product Approved 4q32.2 04q32.2 NPYR5 Neuropeptide Y receptors 243 1997-03-27 2015-07-22 4889 ENSG00000164129 OTTHUMG00000161353 uc003iqn.3 BC042416 NM_006174 CCDS3804 Q15761 "8700207|9417917" MGI:108082 RGD:3199 602001 objectId:308 HGNC:7958 "ENST00000338566.8|NM_006174.4" +HGNC:7959 NPY6R neuropeptide Y receptor Y6 (pseudogene) pseudogene pseudogene Approved 5q31.2 05q31.2 "PP2|NPY1RL|NPY6RP" Neuropeptide Y receptors 243 1997-03-27 2018-10-18 4888 ENSG00000226306 OTTHUMG00000163236 D86519 NR_002713 Q99463 "8910373|8910290" MGI:1098590 601770 PGOHUM00000235768 HGNC:7959 +HGNC:2874 NQO1 NAD(P)H quinone dehydrogenase 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "DHQU|QR1|DTD" "NMOR1|DIA4" "diaphorase (NADH/NADPH) (cytochrome b-5 reductase)|NAD(P)H dehydrogenase, quinone 1" 2001-06-22 2001-12-07 2016-03-21 2017-07-12 1728 ENSG00000181019 OTTHUMG00000137575 uc002exp.5 M81600 NM_000903 "CCDS32471|CCDS32472|CCDS67067|CCDS10883" P15559 2843525 MGI:103187 RGD:2503 125860 1.6.5.2 HGNC:2874 "ENST00000320623.10|NM_000903.3" +HGNC:55344 NQO1-DT NQO1 divergent transcript non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 Divergent transcripts 1990 2020-11-04 2020-11-04 119139903 ENSG00000262136 XR_007065098 +HGNC:7856 NQO2 N-ribosyldihydronicotinamide:quinone reductase 2 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "QR2|DHQV|DIA6" NMOR2 "NAD(P)H menadione oxidoreductase 2, dioxin-inducible|NAD(P)H quinone dehydrogenase 2" 1991-09-13 2001-12-07 2017-01-27 2017-01-27 4835 ENSG00000124588 OTTHUMG00000014130 uc003mus.3 U07736 NM_000904 "CCDS75388|CCDS4481" P16083 1691923 MGI:104513 RGD:1303320 160998 1.10.5.1 HGNC:7856 "ENST00000380455.11|NM_000904.6" +HGNC:40407 NQO2-AS1 NQO2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.2 06p25.2 Antisense RNAs 1987 2019-08-16 2019-08-16 105374888 ENSG00000224846 OTTHUMG00000014129 HGNC:40407 +HGNC:7962 NR1D1 nuclear receptor subfamily 1 group D member 1 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "ear-1|hRev|Rev-ErbAalpha|THRA1|REVERBA|REVERBalpha" THRAL nuclear receptor subfamily 1, group D, member 1 Nuclear receptor subfamily 1 group D 2072 1999-04-16 2015-11-18 2018-02-14 9572 ENSG00000126368 OTTHUMG00000133327 uc002htz.4 X72631 NM_021724 CCDS11361 P20393 1971514 MGI:2444210 RGD:628827 602408 objectId:596 HGNC:7962 "ENST00000246672.4|NM_021724.5" +HGNC:7963 NR1D2 nuclear receptor subfamily 1 group D member 2 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "BD73|RVR|EAR-1r|HZF2|Hs.37288|REVERBB|REVERBbeta" nuclear receptor subfamily 1, group D, member 2 Nuclear receptor subfamily 1 group D 2072 1998-11-30 2015-11-18 2018-02-14 9975 ENSG00000174738 OTTHUMG00000155659 uc003ccs.2 BC045613 NM_001145425 CCDS33718 Q14995 "7997240|10198169" MGI:2449205 RGD:628828 602304 470786 objectId:597 HGNC:7963 "ENST00000312521.9|NM_005126.5" +HGNC:7965 NR1H2 nuclear receptor subfamily 1 group H member 2 protein-coding gene gene with protein product Approved 19q13.3 19q13.3 "NER|NER-I|RIP15|LXR-b|LXRb" liver X receptor-beta UNR "ubiquitously-expressed nuclear receptor|nuclear receptor subfamily 1, group H, member 2" Nuclear receptor subfamily 1 group H 2083 1994-09-19 2015-11-18 2019-08-20 7376 ENSG00000131408 OTTHUMG00000183036 uc010enw.5 U14534 NM_001256647 "CCDS42593|CCDS58673" P55055 "7782080|7971966" MGI:1352463 RGD:61906 600380 objectId:601 HGNC:7965 "ENST00000253727.10|NM_007121.7" +HGNC:7966 NR1H3 nuclear receptor subfamily 1 group H member 3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "LXR-a|RLD-1|LXRa" liver X receptor-alpha nuclear receptor subfamily 1, group H, member 3 Nuclear receptor subfamily 1 group H 2083 1999-09-17 2015-11-18 2018-02-14 10062 ENSG00000025434 OTTHUMG00000150628 uc058bcq.1 U22662 NM_001130101 "CCDS44584|CCDS44585|CCDS86200|CCDS7929|CCDS73285" Q13133 "8621574|7744246" MGI:1352462 RGD:61909 602423 objectId:602 HGNC:7966 "ENST00000441012.7|NM_005693.4" +HGNC:7967 NR1H4 nuclear receptor subfamily 1 group H member 4 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "FXR|RIP14|HRR1|HRR-1" "farnesoid X receptor|bile acid receptor" nuclear receptor subfamily 1, group H, member 4 Nuclear receptor subfamily 1 group H 2083 1999-09-17 2015-11-18 2018-03-06 9971 ENSG00000012504 OTTHUMG00000170359 uc001thp.3 U68233 NM_005123 "CCDS55873|CCDS55876|CCDS55875|CCDS55874|CCDS9078" Q96RI1 "7774010|9223286" MGI:1352464 RGD:628831 603826 304804 objectId:603 HGNC:7967 "ENST00000392986.8|NM_001206979.2" HGNC:7967 +HGNC:32673 NR1H5P nuclear receptor subfamily 1 group H member 5, pseudogene pseudogene pseudogene Approved 1p13.2 01p13.2 "Fxrb|NR1H5" "nuclear receptor subfamily 1, group H, member 5 pseudogene|nuclear receptor subfamily 1, group H, member 5, pseudogene" Nuclear receptor subfamily 1 group H 2083 2008-01-31 2015-11-18 2020-08-14 643609 ENSG00000227970 OTTHUMG00000012058 NG_007471.1 MGI:3026618 617386 HGNC:32673 +HGNC:7968 NR1I2 nuclear receptor subfamily 1 group I member 2 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "ONR1|PXR|BXR|SXR|PAR2" "pregnane X receptor|orphan nuclear receptor PXR" nuclear receptor subfamily 1, group I, member 2 Nuclear receptor subfamily 1 group I 2084 1999-04-23 2015-11-18 2016-10-05 8856 ENSG00000144852 OTTHUMG00000159400 uc003edk.3 AF061056 NM_003889 "CCDS2995|CCDS43136|CCDS54627" O75469 "9727070|9770465" MGI:1337040 RGD:69057 603065 470788 objectId:606 HGNC:7968 "ENST00000393716.8|NM_003889.4" +HGNC:7969 NR1I3 nuclear receptor subfamily 1 group I member 3 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "MB67|CAR1|CAR" constitutive androstane receptor nuclear receptor subfamily 1, group I, member 3 Nuclear receptor subfamily 1 group I 2084 1999-09-23 2015-11-18 2015-11-18 9970 ENSG00000143257 OTTHUMG00000034347 uc001fzy.4 Z30425 NM_001077469 "CCDS1228|CCDS41427|CCDS41428|CCDS41429|CCDS41430|CCDS44260|CCDS44261|CCDS44262|CCDS53405|CCDS53406|CCDS53407|CCDS53408|CCDS53409|CCDS53410|CCDS53411" Q14994 8114692 MGI:1346307 RGD:621400 603881 470790 objectId:607 HGNC:7969 "ENST00000367983.9|NM_005122.5" +HGNC:7970 NR1I4 nuclear receptor subfamily 1 group I member 4 other unknown Approved reserved reserved CAR2 nuclear receptor subfamily 1, group I, member 4 1999-09-23 2015-11-18 2015-11-18 22817 +HGNC:7971 NR2C1 nuclear receptor subfamily 2 group C member 1 protein-coding gene gene with protein product Approved 12q22 12q22 TR2-11 TR2 nuclear receptor subfamily 2, group C, member 1 Nuclear receptor subfamily 2 group C 2073 1998-05-15 2015-11-18 2016-11-09 7181 ENSG00000120798 OTTHUMG00000170131 uc001tdm.6 M29960 NM_003297 "CCDS41821|CCDS44953|CCDS9051" P13056 2597158 MGI:1352465 RGD:3200 601529 objectId:613 HGNC:7971 "ENST00000333003.10|NM_003297.4" +HGNC:7972 NR2C2 nuclear receptor subfamily 2 group C member 2 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "TAK1|TR2R1|hTAK1" TR4 nuclear receptor subfamily 2, group C, member 2 Nuclear receptor subfamily 2 group C 2073 1998-05-15 2015-11-18 2016-10-05 7182 ENSG00000177463 OTTHUMG00000129839 uc003bzi.4 L27586 NM_003298 "CCDS2621|CCDS74905" P49116 "8661150|8016112" MGI:1352466 RGD:3201 601426 objectId:614 HGNC:7972 "ENST00000425241.6|NM_001291694.2" +HGNC:30763 NR2C2AP nuclear receptor 2C2 associated protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 TRA16 TR4 orphan receptor associated protein TRA16 2008-01-10 2016-02-15 2020-04-01 126382 ENSG00000184162 OTTHUMG00000169225 uc002nlx.4 AY101377 NM_176880 "CCDS32967|CCDS74316" Q86WQ0 12486131 MGI:1922942 RGD:1561190 608719 HGNC:30763 "ENST00000331552.12|NM_176880.6" +HGNC:7973 NR2E1 nuclear receptor subfamily 2 group E member 1 protein-coding gene gene with protein product Approved 6q21 06q21 "TLL|XTLL" tailless TLX nuclear receptor subfamily 2, group E, member 1 Nuclear receptor subfamily 2 group E 2074 1998-07-15 2015-11-18 2019-01-24 7101 ENSG00000112333 OTTHUMG00000015319 uc003psg.4 Y13276 NM_001286102 "CCDS69165|CCDS5063" Q9Y466 9628820 MGI:1100526 RGD:1595162 603849 objectId:615 HGNC:7973 "ENST00000368986.9|NM_003269.5" +HGNC:7974 NR2E3 nuclear receptor subfamily 2 group E member 3 protein-coding gene gene with protein product Approved 15q23 15q23 "PNR|rd7|RP37" nuclear receptor subfamily 2, group E, member 3 Nuclear receptor subfamily 2 group E 2074 1999-09-16 2015-11-18 2020-04-02 10002 ENSG00000278570 OTTHUMG00000172841 uc032cil.2 NM_014249 "CCDS73750|CCDS73751" Q9Y5X4 10220376 MGI:1346317 RGD:2318602 "Mutations of the Photoreceptor cell-specific Nuclear Receptor|http://www.retina-international.org/files/sci-news/nr2e3mut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NR2E3" 604485 123912 objectId:616 HGNC:7974 "ENST00000617575.5|NM_014249.4" HGNC:7974 +HGNC:7975 NR2F1 nuclear receptor subfamily 2 group F member 1 protein-coding gene gene with protein product Approved 5q15 05q15 "EAR-3|COUP-TFI|TCFCOUP1|SVP44|COUPTF1" "ERBAL3|TFCOUP1" nuclear receptor subfamily 2, group F, member 1 Nuclear receptor subfamily 2 group F 2075 1995-03-21 2015-11-18 2018-02-14 7025 ENSG00000175745 OTTHUMG00000119079 uc003kkj.4 BC004154 NM_005654 CCDS4068 P10589 8530078 MGI:1352451 RGD:621682 132890 403297 objectId:617 HGNC:7975 "ENST00000327111.8|NM_005654.6" HGNC:7975 +HGNC:48622 NR2F1-AS1 NR2F1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q15 05q15 FLJ42709 Antisense RNAs 1987 2013-05-21 2013-05-28 2013-05-28 2019-07-17 441094 ENSG00000237187 OTTHUMG00000162643 "BC010610|DA718791" NR_021490 "23583100|29602203|31304680" NR2F1-AS1 HGNC:48622 +HGNC:7976 NR2F2 nuclear receptor subfamily 2 group F member 2 protein-coding gene gene with protein product Approved 15q26.2 15q26.2 "COUP-TFII|COUPTFB|SVP40|NF-E3|COUPTF2" COUP transcription factor II "ARP1|TFCOUP2" nuclear receptor subfamily 2, group F, member 2 "MicroRNA protein coding host genes|Nuclear receptor subfamily 2 group F" "1691|2075" 1995-03-21 2015-11-18 2020-02-14 7026 ENSG00000185551 OTTHUMG00000149848 uc010uri.3 M64497 NM_001145155 "CCDS10375|CCDS45358|CCDS45359" P24468 "8530078|11544252" MGI:1352452 RGD:69305 107773 402562 objectId:618 HGNC:7976 "ENST00000394166.8|NM_021005.4" HGNC:7976 +HGNC:44222 NR2F2-AS1 NR2F2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 NR2F2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-07-09 2012-08-15 2020-01-30 644192 ENSG00000247809 OTTHUMG00000171855 uc059npo.1 AK000872 XR_109225 31966043 NR2F2-AS1 HGNC:44222 +HGNC:7977 NR2F6 nuclear receptor subfamily 2 group F member 6 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "EAR-2|EAR2" ERBAL2 nuclear receptor subfamily 2, group F, member 6 Nuclear receptor subfamily 2 group F 2075 1989-02-23 2015-11-18 2018-02-14 2063 ENSG00000160113 OTTHUMG00000182728 uc002nfq.4 X12794 NM_005234 CCDS12352 P10588 2905047 MGI:1352453 RGD:621685 132880 objectId:619 HGNC:7977 "ENST00000291442.4|NM_005234.4" +HGNC:7978 NR3C1 nuclear receptor subfamily 3 group C member 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 GR glucocorticoid receptor GRL "nuclear receptor subfamily 3, group C, member 1|nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" Nuclear receptor subfamily 3 group C 2076 2001-06-22 2015-11-18 2016-10-05 2908 ENSG00000113580 OTTHUMG00000129677 uc003lnd.3 X03225 NM_000176 "CCDS4278|CCDS47298|CCDS34258" P04150 2867473 MGI:95824 RGD:2741 138040 123916 objectId:625 HGNC:7978 "ENST00000394464.7|NM_000176.3" HGNC:7978 +HGNC:4592 NR3C1P1 nuclear receptor subfamily 3 group C member 1 pseudogene 1 pseudogene pseudogene Approved 16q24.2 16q24.2 "GRLL1|NR3C1P" "glucocorticoid receptor-like 1|nuclear receptor subfamily 3, group C, member 1 pseudogene|nuclear receptor subfamily 3, group C, member 1 pseudogene 1" 2001-06-22 2010-02-26 2015-11-18 2015-11-18 2910 NG_029774 2867473 138060 PGOHUM00000249184 HGNC:4592 +HGNC:7979 NR3C2 nuclear receptor subfamily 3 group C member 2 protein-coding gene gene with protein product Approved 4q31 04q31 MR MLR nuclear receptor subfamily 3, group C, member 2 Nuclear receptor subfamily 3 group C 2076 1988-08-19 2015-11-18 2015-11-18 4306 ENSG00000151623 OTTHUMG00000161455 uc063acs.1 M16801 NM_000901 "CCDS3772|CCDS54811" P08235 2558856 MGI:99459 RGD:3094 600983 123920 objectId:626 HGNC:7979 "ENST00000358102.8|NM_000901.5" HGNC:7979 +HGNC:7980 NR4A1 nuclear receptor subfamily 4 group A member 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "TR3|N10|NAK-1|NGFIB|NUR77" "HMR|GFRP1" nuclear receptor subfamily 4, group A, member 1 Nuclear receptor subfamily 4 group A 2079 1990-09-10 2015-11-18 2017-03-28 3164 ENSG00000123358 OTTHUMG00000150393 uc001rzt.4 L13740 NM_001202233 "CCDS55828|CCDS73471|CCDS8818" P22736 2626032 MGI:1352454 RGD:620029 139139 objectId:629 HGNC:7980 "ENST00000394825.6|NM_173157.3" +HGNC:54409 NR4A1AS NR4A1 antisense RNA non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 NR4A1-AS1 Long non-coding RNAs with non-systematic symbols 1992 2019-07-11 2019-07-11 115409980 ENSG00000259884 NR_170321 31253658 +HGNC:7981 NR4A2 nuclear receptor subfamily 4 group A member 2 protein-coding gene gene with protein product Approved 2q22-q23 02q22-q23 "TINUR|NOT|RNR1|HZF-3" NURR1 nuclear receptor subfamily 4, group A, member 2 Nuclear receptor subfamily 4 group A 2079 1997-07-11 2015-11-18 2015-11-18 4929 ENSG00000153234 OTTHUMG00000131950 uc061osi.1 X75918 NM_006186 "CCDS2201|CCDS86887" P43354 7706727 MGI:1352456 RGD:3202 601828 objectId:630 HGNC:7981 "ENST00000339562.9|NM_006186.4" HGNC:7981 +HGNC:7982 NR4A3 nuclear receptor subfamily 4 group A member 3 protein-coding gene gene with protein product Approved 9q22 09q22 "CSMF|CHN|NOR1|MINOR" nuclear receptor subfamily 4, group A, member 3 Nuclear receptor subfamily 4 group A 2079 1999-09-24 2015-11-18 2015-11-18 8013 ENSG00000119508 OTTHUMG00000021030 uc022bky.1 U12767 NM_006981 "CCDS6742|CCDS6743|CCDS6744" Q92570 8614405 MGI:1352457 RGD:61882 NR4A3 600542 361071 objectId:631 HGNC:7982 "ENST00000395097.7|NM_006981.4" +HGNC:7983 NR5A1 nuclear receptor subfamily 5 group A member 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "FTZ1|SF-1|ELP|AD4BP|hSF-1|SF1" steroidogenic factor 1 FTZF1 nuclear receptor subfamily 5, group A, member 1 Nuclear receptor subfamily 5 group A 2080 1994-06-07 2015-11-18 2018-02-14 2516 ENSG00000136931 OTTHUMG00000020655 uc004boo.2 D88155 NM_004959 CCDS6856 Q13285 7789992 MGI:1346833 RGD:68350 184757 168312 objectId:632 HGNC:7983 "ENST00000373588.9|NM_004959.5" HGNC:7983 +HGNC:7984 NR5A2 nuclear receptor subfamily 5 group A member 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FTZ-F1beta|hB1F|LRH-1|FTZ-F1|hB1F-2|B1F2|LRH1" liver receptor homolog-1 FTF nuclear receptor subfamily 5, group A, member 2 Nuclear receptor subfamily 5 group A 2080 1998-05-13 2015-11-18 2018-02-14 2494 ENSG00000116833 OTTHUMG00000035635 uc001gvb.5 U93553 NM_001276464 "CCDS1401|CCDS60383|CCDS1400" O00482 "9858833|7680097" MGI:1346834 RGD:68353 604453 objectId:633 HGNC:7984 "ENST00000367362.8|NM_205860.3" +HGNC:7985 NR6A1 nuclear receptor subfamily 6 group A member 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "GCNF1|RTR|CT150" GCNF nuclear receptor subfamily 6, group A, member 1 Nuclear receptor subfamily 6 group A 2081 1997-08-22 2015-11-18 2015-11-18 2649 ENSG00000148200 OTTHUMG00000020661 uc004bor.3 U64876 NM_001278546 "CCDS55340|CCDS65127|CCDS35137" Q15406 "9134503|8982251" MGI:1352459 RGD:1564740 602778 470792 objectId:634 HGNC:7985 "ENST00000487099.7|NM_033334.4" +HGNC:26981 NRAD1 non-coding RNA in the aldehyde dehydrogenase 1A pathway non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 "NCRNA00284|LINC00284" "non-protein coding RNA 284|long intergenic non-protein coding RNA 284" Long non-coding RNAs with non-systematic symbols 1992 2010-08-05 2019-06-26 2019-06-26 2019-06-26 121838 ENSG00000233725 OTTHUMG00000016827 uc058wsb.1 AK001938 NR_026955 31197235 LINC00284 HGNC:26981 +HGNC:19337 NRADDP neurotrophin receptor associated death domain, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2010-03-12 2020-08-14 100129354 ENSG00000236409 OTTHUMG00000154641 NR_024046 "18085818|20210993" MGI:1914419 HGNC:19337 +HGNC:7988 NRAP nebulin related anchoring protein protein-coding gene gene with protein product Approved 10q25.3 10q25.3 nebulin-related anchoring protein LIM domain containing 1218 1997-04-21 2015-12-04 2016-10-05 4892 ENSG00000197893 OTTHUMG00000019072 uc057wbq.1 NM_006175 "CCDS73199|CCDS7579|CCDS7578" Q86VF7 "12789664|10320340" MGI:1098765 RGD:1306731 602873 HGNC:7988 "ENST00000359988.4|NM_198060.4" +HGNC:33843 NRARP NOTCH regulated ankyrin repeat protein protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC61598 Ankyrin repeat domain containing 403 2008-10-15 2017-05-12 2017-05-12 441478 ENSG00000198435 OTTHUMG00000156150 uc004cmo.3 NM_001004354 CCDS35188 Q7Z6K4 "11485984|21998026" MGI:1914372 RGD:1591939 HGNC:33843 "ENST00000356628.4|NM_001004354.3" +HGNC:7989 NRAS NRAS proto-oncogene, GTPase protein-coding gene gene with protein product Approved 1p13.2 01p13.2 N-ras "neuroblastoma RAS viral (v-ras) oncogene homolog|neuroblastoma RAS viral oncogene homolog" RAS type GTPase family 389 2001-06-22 2017-02-27 2021-05-26 4893 ENSG00000213281 OTTHUMG00000012059 uc009wgu.4 BC005219 NM_002524 CCDS877 P01111 "6705568|11524732" MGI:97376 RGD:3205 "NRASbase: Mutation registry for autoimmune lymphoproliferative syndrome type IV|http://structure.bmc.lu.se/idbase/NRASbase/|LRG_92|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_92.xml" NRAS 164790 221346 objectId:2823 HGNC:7989 "ENST00000369535.5|NM_002524.5" HGNC:7989 +HGNC:48588 NRAV negative regulator of antiviral response non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 DYNLL1-AS1 "DYNLL1 antisense RNA 1|negative regulator of antiviral response (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-05-30 2015-01-23 2018-05-16 2018-05-16 100506668 ENSG00000248008 OTTHUMG00000169374 "AK026783|BC065744" NR_038854 25525793 616207 NRAV HGNC:48588 +HGNC:7960 NR0B1 nuclear receptor subfamily 0 group B member 1 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 "DAX1|AHCH" "AHC|DSS" "dosage-sensitive sex reversal|nuclear receptor subfamily 0, group B, member 1" Nuclear receptor subfamily 0 group B 2068 1986-01-01 2015-11-18 2021-04-13 190 ENSG00000169297 OTTHUMG00000021323 uc004dcf.5 S74720 NM_000475 CCDS14223 P51843 "1301166|10412368" MGI:1352460 RGD:62028 "NROB1 - adrenal hypoplasia (DAX1)|http://www.LOVD.nl/NROB1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NR0B1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NR0B1|LRG_858|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_858.xml" 300473 123902 objectId:635 HGNC:7960 "ENST00000378970.5|NM_000475.5" HGNC:7960 +HGNC:7961 NR0B2 nuclear receptor subfamily 0 group B member 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SHP nuclear receptor subfamily 0, group B, member 2 Nuclear receptor subfamily 0 group B 2068 1999-08-19 2015-11-18 2016-10-05 8431 ENSG00000131910 OTTHUMG00000004231 uc001bnf.4 AF044316 NM_021969 CCDS291 Q15466 9603951 MGI:1346344 RGD:621032 604630 objectId:636 HGNC:7961 "ENST00000254227.4|NM_021969.3" HGNC:7961 +HGNC:19692 NRBF2 nuclear receptor binding factor 2 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "DKFZp564C1664|FLJ30395|COPR1|COPR2" "comodulator of PPAR and RXR 1|comodulator of PPAR and RXR 2" PIK3C3 complex subunits 1596 2004-02-10 2016-10-05 29982 ENSG00000148572 OTTHUMG00000018309 uc001jmj.6 D82519 NM_030759 "CCDS60537|CCDS7268" Q96F24 10786636 MGI:1354950 RGD:61937 616477 HGNC:19692 "ENST00000277746.11|NM_030759.5" +HGNC:44604 NRBF2P1 nuclear receptor binding factor 2 pseudogene 1 pseudogene pseudogene Approved 18q12.2 18q12.2 2012-11-19 2012-11-19 648532 ENSG00000267797 OTTHUMG00000178768 NG_006647 PGOHUM00000235041 HGNC:44604 +HGNC:44605 NRBF2P2 nuclear receptor binding factor 2 pseudogene 2 pseudogene pseudogene Approved 3p21.31 03p21.31 2012-11-19 2012-11-19 100114903 ENSG00000226933 OTTHUMG00000156499 NG_006645 PGOHUM00000238018 HGNC:44605 +HGNC:44606 NRBF2P3 nuclear receptor binding factor 2 pseudogene 3 pseudogene pseudogene Approved 1p13.3 01p13.3 2012-11-19 2012-11-19 643232 ENSG00000237415 OTTHUMG00000034490 NG_006643 PGOHUM00000244140 HGNC:44606 +HGNC:44607 NRBF2P4 nuclear receptor binding factor 2 pseudogene 4 pseudogene pseudogene Approved 8q23.1 08q23.1 2012-11-19 2012-11-19 728381 ENSG00000253228 OTTHUMG00000164894 NG_065170 PGOHUM00000249773 HGNC:44607 +HGNC:44683 NRBF2P5 nuclear receptor binding factor 2 pseudogene 5 pseudogene pseudogene Approved 10p15.1 10p15.1 2012-12-04 2016-08-15 100118954 ENSG00000270427 OTTHUMG00000184677 NG_006646 PGOHUM00000290039 HGNC:44683 +HGNC:54797 NRBF2P6 NRBF2 pseudogene 6 pseudogene pseudogene Approved 2q37.1 02q37.1 2020-01-08 2020-01-08 730069 ENSG00000251485 NG_006644 +HGNC:7993 NRBP1 nuclear receptor binding protein 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "BCON3|MUDPNP|MADM" NRBP nuclear receptor binding protein 2000-02-18 2005-12-22 2005-12-22 2016-10-05 29959 ENSG00000115216 OTTHUMG00000097789 uc002rko.4 AF113249 NM_013392 "CCDS1753|CCDS82433" Q9UHY1 "10843813|11956649" MGI:2183436 RGD:1589575 606010 objectId:2126 HGNC:7993 "ENST00000379852.8|NM_013392.4" +HGNC:19339 NRBP2 nuclear receptor binding protein 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 DKFZp434P086 MicroRNA protein coding host genes 1691 2005-01-21 2016-11-01 340371 ENSG00000185189 OTTHUMG00000165157 uc011lkt.3 BC037396 NM_178564 CCDS34959 Q9NSY0 14702039 MGI:2385017 RGD:1591749 615563 objectId:2127 HGNC:19339 "ENST00000442628.7|NM_178564.4" +HGNC:7994 NRCAM neuronal cell adhesion molecule protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "KIAA0343|Bravo" NgCAM-related cell adhesion molecule "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1996-06-19 2016-10-05 4897 ENSG00000091129 OTTHUMG00000154973 uc022aka.2 NM_001037132 "CCDS55153|CCDS5751|CCDS47686|CCDS75652" Q92823 8812479 MGI:104750 RGD:3209 601581 HGNC:7994 "ENST00000379028.8|NM_001037132.4" +HGNC:7995 NRDC nardilysin convertase protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "hNRD1|hNRD2" N-arginine dibasic convertase NRD1 nardilysin (N-arginine dibasic convertase) "M16 metallopeptidases|MicroRNA protein coding host genes" "1440|1691" 1997-12-12 2015-11-11 2015-11-11 2016-10-05 4898 ENSG00000078618 OTTHUMG00000008278 uc001ctc.5 X93207 NM_002525 "CCDS55599|CCDS41335|CCDS559" O43847 "9581555|9479496" MGI:1201386 RGD:3210 602651 3.4.24.61 HGNC:7995 "ENST00000352171.12|NM_001101662.2" +HGNC:20186 NRDE2 NRDE-2, necessary for RNA interference, domain containing protein-coding gene gene with protein product Approved 14q32.11 14q32.11 FLJ14051 C14orf102 chromosome 14 open reading frame 102 2002-12-20 2012-09-25 2012-09-25 2014-11-19 55051 ENSG00000119720 OTTHUMG00000171020 uc001xyi.3 AK000870 NM_017970 CCDS9890 Q9H7Z3 MGI:2670969 RGD:1565082 618631 HGNC:20186 "ENST00000354366.8|NM_017970.4" +HGNC:16834 NREP neuronal regeneration related protein protein-coding gene gene with protein product Approved 5q22.1 05q22.1 "P311|D4S114|PRO1873|PTZ17|SEZ17" neuronal protein 3.1 C5orf13 "chromosome 5 open reading frame 13|neuronal regeneration related protein homolog (rat)" 2003-02-17 2012-01-23 2012-12-07 2015-08-25 9315 ENSG00000134986 OTTHUMG00000128795 uc063fzf.1 AF119859 NM_004772 "CCDS47255|CCDS4105" Q16612 "8261136|10981724|15485502" MGI:99444 RGD:631411 607332 HGNC:16834 "ENST00000257435.12|NM_004772.4" +HGNC:40780 NREP-AS1 NREP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q22.1 05q22.1 NREP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2014-11-19 100873948 ENSG00000250095 OTTHUMG00000162860 uc031skr.1 NR_046678 NREP-AS1 HGNC:40780 +HGNC:7996 NRF1 nuclear respiratory factor 1 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "EWG|ALPHA-PAL" alpha palindromic-binding protein 1995-11-01 2016-10-05 4899 ENSG00000106459 OTTHUMG00000143736 uc003voz.4 L22454 NM_001040110 "CCDS5813|CCDS78273" Q16656 2584221 MGI:1332235 RGD:1304603 600879 HGNC:7996 "ENST00000393232.6|NM_005011.5" +HGNC:7997 NRG1 neuregulin 1 protein-coding gene gene with protein product Approved 8p12 08p12 "HRG|NDF|GGF" "HGL|NRG1-IT2" NRG1 intronic transcript 2 (non-protein coding) "I-set domain containing|Neuregulins" "593|1629" 1999-03-19 2015-01-28 3084 ENSG00000157168 OTTHUMG00000163918 uc064luk.1 L12261 NM_001159995 "CCDS6086|CCDS6083|CCDS47836|CCDS6084|CCDS55219|CCDS6085|CCDS55218|CCDS75727|CCDS6087" Q02297 "1350381|8095334" MGI:96083 RGD:621341 NRG1 142445 ligandId:5027 HGNC:7997 +HGNC:43633 NRG1-IT1 NRG1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 8p12 08p12 NRG1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-12-06 2015-02-25 2015-02-25 100856811 ENSG00000253974 OTTHUMG00000163966 uc033bgv.2 BC037250 NR_104156 NRG1-IT1 HGNC:43633 +HGNC:43635 NRG1-IT3 NRG1 intronic transcript 3 non-coding RNA RNA, long non-coding Approved 8p12 08p12 NRG1 intronic transcript 3 (non-protein coding) Intronic transcripts 1989 2011-12-06 2015-02-25 2015-02-25 100874286 ENSG00000254049 OTTHUMG00000164003 uc031tau.1 NR_047475 NRG1-IT3 HGNC:43635 +HGNC:7998 NRG2 neuregulin 2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "Don-1|NTAK|HRG2" "neural- and thymus-derived activator for ErbB kinases|divergent of neuregulin-1" "I-set domain containing|Neuregulins" "593|1629" 1999-03-19 2015-02-16 9542 ENSG00000158458 OTTHUMG00000129241 uc003lex.3 NM_013982 "CCDS54910|CCDS4217" O14511 "9168114|9168115" MGI:1098246 RGD:1303302 603818 ligandId:5029 HGNC:7998 "ENST00000361474.6|NM_004883.3" +HGNC:7999 NRG3 neuregulin 3 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 Neuregulins 1629 1999-03-19 2018-11-16 10718 ENSG00000185737 OTTHUMG00000018626 uc001kco.3 AK098823 NM_001010848 "CCDS53547|CCDS31233" P56975 9275162 MGI:1097165 RGD:1559678 605533 ligandId:5030 HGNC:7999 "ENST00000372141.7|NM_001010848.4" +HGNC:31429 NRG3-AS1 NRG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 Em:AC010157.1 C10orf100 "chromosome 10 open reading frame 100|NRG3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2012-05-31 2012-08-15 2020-04-20 101929590 ENSG00000225738 OTTHUMG00000018624 uc057uod.1 "CF272718|AA383013|DB052745" NR_120666 NRG3-AS1 HGNC:31429 +HGNC:29862 NRG4 neuregulin 4 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 HRG4 Neuregulins 1629 2005-10-30 2018-06-04 145957 ENSG00000169752 OTTHUMG00000142917 uc002bbo.5 BC017568 NM_138573 CCDS10288 Q8WWG1 25401691 MGI:1933833 RGD:1589860 610894 ligandId:5031 HGNC:29862 "ENST00000394907.8|NM_138573.4" +HGNC:8000 NRGN neurogranin protein-coding gene gene with protein product Approved 11q24.2 11q24.2 RC3 neurogranin (protein kinase C substrate, RC3) 1996-07-17 2015-11-20 2016-10-05 4900 ENSG00000154146 OTTHUMG00000165928 uc001qaq.3 "X99075|X99076" NM_006176 CCDS8451 Q92686 9143500 MGI:1927184 RGD:61833 602350 HGNC:8000 "ENST00000284292.11|NM_006176.3" +HGNC:8001 NRIP1 nuclear receptor interacting protein 1 protein-coding gene gene with protein product Approved 21q11.2-q21.1 21q11.2-q21.1 RIP140 "receptor interacting protein 140|nuclear factor RIP140" 1998-12-18 2018-02-13 8204 ENSG00000180530 OTTHUMG00000074323 uc061zce.1 X84373 NM_003489 CCDS13568 P48552 "7641693|9521594" MGI:1315213 RGD:1311850 602490 HGNC:8001 "ENST00000318948.7|NM_003489.4" HGNC:8001 +HGNC:23078 NRIP2 nuclear receptor interacting protein 2 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 DKFZP761G1913 Peptidase family A28 2098 2003-09-03 2019-07-05 83714 ENSG00000053702 OTTHUMG00000130616 uc001qlc.4 AK054740 NM_031474 CCDS8514 Q9BQI9 10860982 MGI:1891884 RGD:1589959 HGNC:23078 "ENST00000337508.9|NM_031474.3" +HGNC:1167 NRIP3 nuclear receptor interacting protein 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 C11orf14 chromosome 11 open reading frame 14 Peptidase family A28 2098 2000-07-31 2003-09-05 2003-09-03 2020-09-17 56675 ENSG00000175352 OTTHUMG00000165680 uc001mhg.2 AJ400877 NM_020645 CCDS31422 Q9NQ35 11528127 MGI:1925843 RGD:1304777 613125 HGNC:1167 "ENST00000309166.8|NM_020645.3" +HGNC:55524 NRIP3-DT NRIP3 divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Divergent transcripts 1990 2021-03-18 2021-03-18 105376541 ENSG00000253973 XR_001748119 +HGNC:51269 NRIR negative regulator of interferon response non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 "lncRNA-CMPK2|lncCMPK2" negative regulator of interferon response (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-09-04 2018-05-16 2020-04-01 104326052 ENSG00000225964 OTTHUMG00000151730 BQ437827 NR_126359 "25122750|26474526" NRIR HGNC:51269 +HGNC:25391 NRK Nik related kinase protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 DKFZp686A17109 2004-08-16 2020-04-02 203447 ENSG00000123572 OTTHUMG00000022143 uc065ans.1 BX538345 NM_198465 CCDS65305 Q7Z2Y5 MGI:1351326 RGD:1566163 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NRK 300791 objectId:2128 HGNC:25391 "ENST00000243300.14|NM_198465.4" +HGNC:8002 NRL neural retina leucine zipper protein-coding gene gene with protein product Approved 14q11.2-q12 14q11.2-q12 "D14S46E|RP27|NRL-MAF" Basic leucine zipper proteins 506 1997-05-22 2021-05-26 4901 ENSG00000129535 OTTHUMG00000028789 uc001wlq.4 NM_001354768 CCDS9608 P54845 "1427865|10192380" MGI:102567 RGD:1305197 Mutations of the Neuroretina-linked Leucine Zipper Gene|http://www.retina-international.org/files/sci-news/nrlmut.htm 162080 123930 HGNC:8002 "ENST00000561028.6|NM_001354768.3" HGNC:8002 +HGNC:8003 NRM nurim protein-coding gene gene with protein product Approved 6p21.33 06p21.33 NRM29 nurim (nuclear envelope membrane protein) 1999-09-20 2017-08-07 2017-08-07 11270 ENSG00000137404 OTTHUMG00000031223 uc003nrc.4 AF143676 NM_001270707 "CCDS59498|CCDS4686" Q8IXM6 "10402458|17517639" MGI:2146855 RGD:1302966 HGNC:8003 "ENST00000376421.7|NM_001384369.1" +HGNC:17972 NRN1 neuritin 1 protein-coding gene gene with protein product Approved 6p25.1 06p25.1 NRN 2002-05-29 2014-11-19 51299 ENSG00000124785 OTTHUMG00000014184 uc032wjw.2 AF136631 NM_001278710 "CCDS4495|CCDS75393" Q9NPD7 9122250 MGI:1915654 RGD:621586 607409 HGNC:17972 "ENST00000244766.7|NM_016588.3" +HGNC:29811 NRN1L neuritin 1 like protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "UNQ2446|MRCC2446" 2007-02-07 2016-01-05 2016-01-05 123904 ENSG00000188038 OTTHUMG00000137541 uc002euu.4 AY358782 NM_198443 CCDS10850 Q496H8 12975309 MGI:2443642 RGD:2301010 HGNC:29811 "ENST00000339176.8|NM_198443.2" +HGNC:37079 NRON non-coding repressor of NFAT non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 NCRNA00194 "noncoding repressor of NFAT|non-protein coding RNA 194" non-protein coding RNA, repressor of NFAT Long non-coding RNAs with non-systematic symbols 1992 2009-07-16 2018-09-07 2020-11-17 641373 ENSG00000253079 uc022bnj.2 NR_045006 "16141075|29545945" MGI:2444126 609618 NRON NRON HGNC:37079 +HGNC:8004 NRP1 neuropilin 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "NRP|VEGF165R|CD304" CD molecules 471 1998-12-23 2021-05-26 8829 ENSG00000099250 OTTHUMG00000019343 uc057srb.1 AF016050 NM_001024628 "CCDS81448|CCDS31179|CCDS31180|CCDS7177" O14786 "9529250|9331348" MGI:106206 RGD:621588 602069 470794 objectId:2998 CD304 HGNC:8004 "ENST00000374867.7|NM_003873.7" +HGNC:8005 NRP2 neuropilin 2 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 VEGF165R2 1998-12-23 2015-09-01 8828 ENSG00000118257 OTTHUMG00000132893 uc002vau.4 AF016098 NM_003872 "CCDS46497|CCDS46499|CCDS2364|CCDS46498|CCDS2365|CCDS46496" O60462 "9529250|9331348" MGI:1100492 RGD:621442 602070 HGNC:8005 "ENST00000357785.10|NM_003872.3" +HGNC:24613 NRROS negative regulator of reactive oxygen species protein-coding gene gene with protein product Approved 3q29 03q29 "UNQ3030|ELLP3030|MGC50789|GARPL1" glycoprotein A repetitions predominant like 1 LRRC33 leucine rich repeat containing 33 2005-02-25 2013-07-02 2013-07-02 2021-10-20 375387 ENSG00000174004 OTTHUMG00000155569 AY358322 NM_198565 CCDS3319 Q86YC3 "12975309|24739962" MGI:2445095 RGD:1310771 615322 HGNC:24613 "ENST00000328557.5|NM_198565.3" HGNC:24613 +HGNC:17881 NRSN1 neurensin 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 p24 VMP vesicular membrane protein p24 2002-01-16 2006-07-04 2006-07-04 2016-10-05 140767 ENSG00000152954 OTTHUMG00000016406 uc010jpq.1 AF418980 NM_080723 CCDS4549 Q8IZ57 12463420 MGI:894662 RGD:1307833 616630 HGNC:17881 "ENST00000378491.9|NM_080723.5" +HGNC:16229 NRSN2 neurensin 2 protein-coding gene gene with protein product Approved 20p13 20p13 dJ1103G7.6 C20orf98 chromosome 20 open reading frame 98 2001-07-17 2006-07-04 2006-07-04 2016-08-10 80023 ENSG00000125841 OTTHUMG00000031628 uc002wdi.5 AL136915 NM_024958 CCDS12996 Q9GZP1 "16527258|26055238" MGI:2684969 RGD:1586322 610666 HGNC:16229 "ENST00000382285.7|NM_001323682.2" +HGNC:51222 NRSN2-AS1 NRSN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 Antisense RNAs 1987 2014-08-08 2014-08-08 100507459 ENSG00000225377 OTTHUMG00000031624 BG249690 NR_109990 NRSN2-AS1 HGNC:51222 +HGNC:8007 NRTN neurturin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 NTN prepro-neurturin GDNF family ligands 1586 1997-05-15 2019-08-21 4902 ENSG00000171119 OTTHUMG00000180555 uc002mde.4 U78110 NM_004558 CCDS12151 Q99748 8945474 MGI:108417 RGD:621494 602018 123934 ligandId:5032 HGNC:8007 "ENST00000303212.3|NM_004558.5" +HGNC:8008 NRXN1 neurexin 1 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "KIAA0578|Hs.22998" "Neurexins|MicroRNA protein coding host genes" "1582|1691" 1998-10-14 2021-05-26 9378 ENSG00000179915 OTTHUMG00000129263 uc061jbg.1 AB011150 NM_001135659 "CCDS82444|CCDS82450|CCDS82449|CCDS82451|CCDS86838|CCDS82447|CCDS86840|CCDS82446|CCDS82445|CCDS54360|CCDS46282|CCDS1845" "P58400|Q9ULB1" MGI:1096391 RGD:628659 600565 201091 HGNC:8008 "ENST00000401669.7|NM_001330078.2" HGNC:8008 +HGNC:8009 NRXN2 neurexin 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 neurexin II Neurexins 1582 1998-10-14 2021-05-26 9379 ENSG00000110076 OTTHUMG00000045214 uc021qkw.2 NM_015080 "CCDS31597|CCDS8077|CCDS8078" "P58401|Q9P2S2" 1621094 MGI:1096362 RGD:620211 600566 470796 HGNC:8009 "ENST00000265459.11|NM_015080.4" HGNC:8009 +HGNC:40416 NRXN2-AS1 NRXN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Antisense RNAs 1987 2019-08-16 2019-08-16 107984337 ENSG00000237410 OTTHUMG00000133666 XR_001748259 HGNC:40416 +HGNC:8010 NRXN3 neurexin 3 protein-coding gene gene with protein product Approved 14q24.3-q31.1 14q24.3-q31.1 KIAA0743 C14orf60 chromosome 14 open reading frame 60 Neurexins 1582 1998-10-14 2021-05-26 9369 ENSG00000021645 OTTHUMG00000171502 uc284nlf.1 AB018286 NM_001105250 "CCDS9871|CCDS81831|CCDS61515|CCDS45145|CCDS9870" "Q9HDB5|Q9Y4C0" "11944992|12379233" MGI:1096389 RGD:620212 600567 HGNC:8010 "ENST00000335750.7|NM_001330195.2" HGNC:8010 +HGNC:30728 NSA2 NSA2 ribosome biogenesis factor protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "HUSSY-29|HCLG1|FLJ94393|TINP1" "hairy cell leukemia protein 1|TGF beta-inducible nuclear protein 1" "NSA2 ribosome biogenesis homolog (S. cerevisiae)|NSA2, ribosome biogenesis homolog" Ribosomal biogenesis factors 1729 2009-09-02 2019-01-22 2019-01-22 10412 ENSG00000164346 OTTHUMG00000131273 uc003kdk.3 AF077615 NM_014886 "CCDS75260|CCDS4025" O95478 "11124703|10486207|30243719" MGI:1913883 RGD:621335 612497 HGNC:30728 "ENST00000610426.5|NM_014886.6" +HGNC:54580 NSA2P1 NSA2 pseudogene 1 pseudogene pseudogene Approved 1q32.1 01q32.1 2019-10-16 2019-10-16 100421749 ENSG00000236035 NG_027032 +HGNC:54581 NSA2P2 NSA2 pseudogene 2 pseudogene pseudogene Approved 12q22 12q22 2019-10-16 2019-10-16 400061 ENSG00000258357 NG_021697 +HGNC:54582 NSA2P3 NSA2 pseudogene 3 pseudogene pseudogene Approved Xq22.1 Xq22.1 2019-10-16 2019-10-16 100132658 ENSG00000179031 NG_022683 +HGNC:54583 NSA2P4 NSA2 pseudogene 4 pseudogene pseudogene Approved 15q22.2 15q22.2 2019-10-16 2019-10-16 100421765 ENSG00000259750 NG_025323 +HGNC:54584 NSA2P5 NSA2 pseudogene 5 pseudogene pseudogene Approved 2q31.1 02q31.1 2019-10-16 2019-10-16 100421689 ENSG00000227176 NG_023629 +HGNC:54587 NSA2P6 NSA2 pseudogene 6 pseudogene pseudogene Approved 4q31.3 04q31.3 2019-10-16 2019-10-16 100421721 ENSG00000250980 NG_025178 +HGNC:54588 NSA2P7 NSA2 pseudogene 7 pseudogene pseudogene Approved 9q22.32 09q22.32 2019-10-16 2019-10-16 100421693 ENSG00000238251 NG_023944 +HGNC:14234 NSD1 nuclear receptor binding SET domain protein 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "ARA267|FLJ22263|KMT3B" STO Sotos syndrome "PHD finger proteins|Lysine methyltransferases|PWWP domain containing" "88|487|1147" 2002-02-25 2003-03-12 2021-04-13 64324 ENSG00000165671 OTTHUMG00000130846 uc003mfr.5 AK026066 NM_172349 CCDS4412 Q96L73 "9628876|11896389" MGI:1276545 RGD:1307748 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NSD1|LRG_512|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_512.xml" NSD1 606681 123937 objectId:2696 HGNC:14234 "ENST00000439151.7|NM_022455.5" HGNC:14234 +HGNC:12766 NSD2 nuclear receptor binding SET domain protein 2 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "MMSET|KMT3G" multiple myeloma SET domain containing protein WHSC1 Wolf-Hirschhorn syndrome candidate 1 "PHD finger proteins|Lysine methyltransferases|PWWP domain containing|SET domain containing" "88|487|1147|1399" 1998-06-25 2016-11-18 2016-11-18 2016-11-18 7468 ENSG00000109685 OTTHUMG00000121147 uc003gdz.5 AF083386 NM_133330 "CCDS33940|CCDS3356|CCDS46999" O96028 "9618163|9787135" MGI:1276574 RGD:1307955 NSD2 602952 120521 HGNC:12766 "ENST00000508803.6|NM_001042424.3" HGNC:12766 +HGNC:12767 NSD3 nuclear receptor binding SET domain protein 3 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "FLJ20353|WHISTLE|KMT3F" WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 "PHD finger proteins|Lysine methyltransferases|PWWP domain containing|SET domain containing" "88|487|1147|1399" 2000-05-02 2016-11-18 2016-11-18 2016-11-18 54904 ENSG00000147548 OTTHUMG00000165115 uc003xli.4 AF332469 NM_023034 "CCDS6105|CCDS43729" Q9BZ95 "10802047|23269674" MGI:2142581 RGD:1308980 NSD3 607083 HGNC:12767 "ENST00000317025.13|NM_023034.2" +HGNC:13398 NSDHL NAD(P) dependent steroid dehydrogenase-like protein-coding gene gene with protein product Approved Xq28 Xq28 "XAP104|H105e3|SDR31E1" short chain dehydrogenase/reductase family 31E, member 1 Short chain dehydrogenase/reductase superfamily 743 2004-04-30 2020-04-02 50814 ENSG00000147383 OTTHUMG00000024185 uc004fgs.2 X96621 NM_015922 CCDS14717 Q15738 "10710235|12837764|19027726" MGI:1099438 RGD:1359337 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NSDHL 300275 123942 1.1.1.170 HGNC:13398 "ENST00000370274.8|NM_015922.3" HGNC:13398 +HGNC:8016 NSF N-ethylmaleimide sensitive factor, vesicle fusing ATPase protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "SKD2|SEC18" N-ethylmaleimide-sensitive factor-like protein "N-ethylmaleimide-sensitive factor|N-ethylmaleimide sensitive factor" AAA ATPases 413 1996-08-28 2016-07-01 2017-02-08 4905 ENSG00000073969 OTTHUMG00000134315 uc002iku.4 NM_006178 CCDS42354 P46459 "1315316|8875895" MGI:104560 RGD:621594 601633 3.6.4.6 HGNC:8016 "ENST00000398238.8|NM_006178.4" HGNC:8016 +HGNC:15912 NSFL1C NSFL1 cofactor protein-coding gene gene with protein product Approved 20p13 20p13 "dJ776F14.1|p47|UBXD10|UBX1|UBXN2C" "SHP1 homolog (S. cerevisiae)|UBX domain protein 2C" NSFL1 (p97) cofactor (p47) UBX domain containing 364 2001-06-21 2016-04-25 2016-04-25 55968 ENSG00000088833 OTTHUMG00000031665 uc002wfc.3 AF112211 NM_016143 "CCDS13016|CCDS13015|CCDS56175" Q9UNZ2 11042152 MGI:3042273 RGD:619952 606610 HGNC:15912 "ENST00000216879.9|NM_016143.5" +HGNC:31405 NSFP1 N-ethylmaleimide-sensitive factor pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 NSFP N-ethylmaleimide-sensitive factor pseudogene 2004-04-06 2010-02-26 2010-02-26 2020-04-20 728806 ENSG00000260075 OTTHUMG00000177127 NR_033799 PGOHUM00000294460 HGNC:31405 +HGNC:18790 NSG1 neuronal vesicle trafficking associated 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "P21|D4S234E|NEEP21" "DNA segment on chromosome 4 (unique) 234 expressed sequence|neuron-enriched endosomal protein of 21 kD|neuron specific gene family member 1" 2017-06-23 2017-06-23 27065 ENSG00000168824 OTTHUMG00000160002 NM_001040101 CCDS3376 P42857 "9013775|16037816|18299352|25376768" MGI:109149 RGD:2222 607645 HGNC:18790 "ENST00000621129.5|NM_014392.5" +HGNC:24955 NSG2 neuronal vesicle trafficking associated 2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "HMP19|CALY3" calcyon family member 3 2017-06-23 2020-05-04 51617 ENSG00000170091 OTTHUMG00000130543 NM_015980 CCDS4391 Q9Y328 "7829526|15383276|25376768" MGI:1202070 RGD:1563944 616752 HGNC:24955 "ENST00000303177.8|NM_015980.5" +HGNC:24548 NSL1 NSL1 component of MIS12 kinetochore complex protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "DC8|DKFZP566O1646|MIS14" C1orf48 "chromosome 1 open reading frame 48|NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)|NSL1, MIS12 kinetochore complex component" MIS12 kinetochore complex 1322 2004-11-17 2006-11-07 2019-01-25 2019-01-25 25936 ENSG00000117697 OTTHUMG00000036806 uc001hjn.4 AF255793 NM_015471 "CCDS73025|CCDS1509|CCDS53474" Q96IY1 20819937 MGI:2685830 RGD:1562052 609174 HGNC:24548 "ENST00000366977.8|NM_015471.4" +HGNC:8017 NSMAF neutral sphingomyelinase activation associated factor protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "FAN|GRAMD5" neutral sphingomyelinase (N-SMase) activation associated factor "WD repeat domain containing|GRAM domain containing|BEACH domain containing " "362|1146|1230" 1998-11-04 2015-11-10 2015-11-17 8439 ENSG00000035681 OTTHUMG00000164352 uc003xtt.4 X96586 NM_003580 "CCDS47864|CCDS6173" Q92636 "8808629|10640829" MGI:1341864 RGD:727868 603043 objectId:2495 HGNC:8017 "ENST00000038176.8|NM_003580.4" +HGNC:29897 NSMCE1 NSE1 homolog, SMC5-SMC6 complex component protein-coding gene gene with protein product Approved 16p12.1 16p12.1 NSE1 non-SMC element 1 homolog (S. cerevisiae) "Ring finger proteins|SMC5-6 protein complex" "58|1034" 2005-01-12 2015-07-03 2015-07-03 197370 ENSG00000169189 OTTHUMG00000131674 uc002doi.2 AF161451 NM_145080 CCDS10628 Q8WV22 11927594 MGI:1914961 RGD:1307760 617263 HGNC:29897 "ENST00000361439.9|NM_145080.4" +HGNC:51368 NSMCE1-DT NSMCE1 divergent transcript non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 Divergent transcripts 1990 2018-08-15 2018-08-15 400512 ENSG00000245888 OTTHUMG00000177039 BC044845 NR_037184 HGNC:51368 +HGNC:26513 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "FLJ32440|MMS21|NSE2|ZMIZ7" zinc finger, MIZ-type containing 7 C8orf36 "chromosome 8 open reading frame 36|non-SMC element 2 homolog (MMS21, S. cerevisiae)|non-SMC element 2, MMS21 homolog (S. cerevisiae)|NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase" "Zinc fingers MIZ-type|SMC5-6 protein complex" "85|1034" 2005-07-27 2006-07-05 2018-02-23 2021-05-26 286053 ENSG00000156831 OTTHUMG00000164993 uc003yrw.3 AK057002 NM_173685 "CCDS87625|CCDS6356" Q96MF7 "16055714|21550342" MGI:1915751 RGD:1305156 617246 444717 HGNC:26513 "ENST00000287437.8|NM_173685.4" HGNC:26513 +HGNC:7677 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "HCA4|MAGEG1|MAGEL3|NSE3" NDNL2 "necdin-like 2|necdin-like 2, SMC5-SMC6 complex component" "SMC5-6 protein complex|MAGE family" "1034|1136" 2000-06-19 2015-11-19 2015-11-19 2015-11-19 56160 ENSG00000185115 OTTHUMG00000129261 uc001zco.4 AF490510 NM_138704 CCDS10023 Q96MG7 18086888 MGI:1913897 RGD:1309206 608243 HGNC:7677 "ENST00000332303.6|NM_138704.4" +HGNC:25935 NSMCE4A NSE4 homolog A, SMC5-SMC6 complex component protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "FLJ20003|bA500G22.3|NSE4A" C10orf86 "chromosome 10 open reading frame 86|non-SMC element 4 homolog A (S. cerevisiae)|NSE4 homolog, SMC5-SMC6 complex component A" SMC5-6 protein complex 1034 2004-03-16 2006-11-24 2015-07-30 2015-07-30 54780 ENSG00000107672 OTTHUMG00000019180 uc001lfs.4 AF258584 NM_017615 CCDS7624 Q9NXX6 "15752197|18086888" MGI:1915122 RGD:1309025 612987 HGNC:25935 "ENST00000369023.8|NM_017615.3" +HGNC:29843 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor protein-coding gene gene with protein product Approved 9q34.3 09q34.3 NELF nasal embryonic LHRH factor MicroRNA protein coding host genes 1691 2004-03-25 2013-01-14 2013-01-14 2014-11-19 26012 ENSG00000165802 OTTHUMG00000020989 uc004cmz.4 NM_015537 "CCDS48067|CCDS55357|CCDS48069|CCDS7044|CCDS48068" Q6X4W1 "11230166|10898796" MGI:1861755 RGD:619819 608137 123757 HGNC:29843 "ENST00000371475.9|NM_001130969.3" HGNC:29843 +HGNC:25305 NSRP1 nuclear speckle splicing regulatory protein 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "DKFZP434K1421|NSrp70" CCDC55 coiled-coil domain containing 55 MicroRNA protein coding host genes 1691 2006-01-12 2011-05-24 2011-05-24 2014-11-18 84081 ENSG00000126653 OTTHUMG00000132754 uc002heu.5 AL136806 NM_032141 "CCDS11255|CCDS74025" Q9H0G5 11230166 MGI:2144305 RGD:1309863 616173 HGNC:25305 "ENST00000247026.10|NM_032141.4" +HGNC:38087 NSRP1P1 nuclear speckle splicing regulatory protein 1 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 CCDC55P1 coiled-coil domain containing 55 pseudogene 1 2010-04-13 2011-05-24 2011-05-24 2014-11-18 100420557 ENSG00000235613 OTTHUMG00000040562 NG_022784 PGOHUM00000244763 HGNC:38087 +HGNC:25994 NSUN2 NOP2/Sun RNA methyltransferase 2 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 "FLJ20303|TRM4|Misu" "tRNA methyltransferase 4 homolog (S. cerevisiae)|Myc-induced SUN-domain-containing protein" MRT5 "NOL1/NOP2/Sun domain family, member 2|NOP2/Sun domain family, member 2|mental retardation, non-syndromic, autosomal recessive, 5" NOP2/Sun RNA methyltransferase family 664 2004-08-25 2019-02-26 2019-02-26 54888 ENSG00000037474 OTTHUMG00000090455 uc003jdu.4 AK000310 NM_017755 "CCDS54832|CCDS3869" Q08J23 "17071714|22541559|28418038" MGI:107252 RGD:1311954 610916 302903 HGNC:25994 "ENST00000264670.11|NM_017755.6" HGNC:25994 +HGNC:26208 NSUN3 NOP2/Sun RNA methyltransferase 3 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 FLJ22609 "NOL1/NOP2/Sun domain family, member 3|NOP2/Sun RNA methyltransferase family member 3" NOP2/Sun RNA methyltransferase family 664 2004-08-25 2019-02-26 2019-02-26 63899 ENSG00000178694 OTTHUMG00000159025 uc003drl.2 BC020602 NM_022072 CCDS2927 Q9H649 "27356879|27214402" MGI:2146565 RGD:2322119 617491 HGNC:26208 "ENST00000314622.9|NM_022072.5" HGNC:26208 +HGNC:31802 NSUN4 NOP2/Sun RNA methyltransferase 4 protein-coding gene gene with protein product Approved 1p33 01p33 "MGC22960|SHTAP" sperm head and tail associated protein "NOL1/NOP2/Sun domain family, member 4|NOP2/Sun RNA methyltransferase family member 4" NOP2/Sun RNA methyltransferase family 664 2004-08-25 2019-02-26 2019-02-26 387338 ENSG00000117481 OTTHUMG00000007808 uc001cpr.3 AK021577 NM_199044 "CCDS534|CCDS57996" Q96CB9 24516400 MGI:1919431 RGD:1559652 615394 HGNC:31802 "ENST00000474844.6|NM_199044.4" +HGNC:16385 NSUN5 NOP2/Sun RNA methyltransferase 5 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "NOL1R|p120(NOL1)|FLJ10267|NSUN5A|Ynl022cL" NOP2/Sun domain family, member 5A "WBSCR20|WBSCR20A" "Williams Beuren syndrome chromosome region 20A|NOL1/NOP2/Sun domain family, member 5|NOP2/Sun domain family, member 5" NOP2/Sun RNA methyltransferase family 664 2001-08-24 2005-01-14 2019-02-26 2020-04-20 55695 ENSG00000130305 OTTHUMG00000129869 uc011kev.4 AF420249 NM_148956 "CCDS5547|CCDS5546|CCDS55119|CCDS55118" Q96P11 "11978965|12073013|25635753" MGI:2140844 RGD:1309268 615732 HGNC:16385 "ENST00000438747.7|NM_148956.4" +HGNC:19146 NSUN5P1 NSUN5 pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 WBSCR20B Williams Beuren syndrome chromosome region 20B NSUN5B "NOL1/NOP2/Sun domain family, member 5B|NOP2/Sun domain family, member 5 pseudogene 1" 2006-02-02 2010-02-15 2019-02-26 2019-02-26 155400 ENSG00000223705 OTTHUMG00000156108 AF416610 NR_033322 Q3KNT7 12073013 HGNC:19146 +HGNC:16609 NSUN5P2 NSUN5 pseudogene 2 pseudogene pseudogene Approved 7q11.23 07q11.23 "WBSCR20C|MGC15057|FLJ11626|DKFZp434K058|NOL1R2|WBSCR20B" Williams Beuren syndrome chromosome region 20C NSUN5C "NOL1/NOP2/Sun domain family, member 5C|NOP2/Sun domain family, member 5 pseudogene 2" 2006-02-02 2010-02-15 2019-02-26 2019-02-26 260294 ENSG00000106133 OTTHUMG00000129829 AF416611 NR_033323 Q63ZY6 "12073013|11978965" MGI:2140844 HGNC:16609 +HGNC:23529 NSUN6 NOP2/Sun RNA methyltransferase 6 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 FLJ23743 "NOPD1|ARL5B-AS1" "NOL1/NOP2/Sun domain family, member 6|ARL5B antisense RNA 1|NOP2/Sun domain family, member 6" NOP2/Sun RNA methyltransferase family 664 2003-11-21 2004-08-26 2019-02-26 2019-02-26 221078 ENSG00000241058 OTTHUMG00000017767 uc010qcp.2 BC035778 NM_182543 CCDS7130 Q8TEA1 "26160102|27703015" MGI:1921705 RGD:1309535 617199 HGNC:23529 "ENST00000377304.7|NM_182543.5" +HGNC:25857 NSUN7 NOP2/Sun RNA methyltransferase family member 7 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ14001 "NOL1/NOP2/Sun domain family, member 7|NOP2/Sun domain family, member 7" NOP2/Sun RNA methyltransferase family 664 2006-05-22 2015-11-17 2015-11-17 79730 ENSG00000179299 OTTHUMG00000128597 uc003gvj.4 BC036568 NM_024677 "CCDS82917|CCDS3461" Q8NE18 17442852 MGI:1918168 RGD:1310137 617185 HGNC:25857 "ENST00000381782.7|NM_024677.6" +HGNC:17144 NT5C 5', 3'-nucleotidase, cytosolic protein-coding gene gene with protein product Approved 17q25 17q25 "DNT1|DNT-1|PN-I|cdN|dNT-1" UMPH2 "5' nucleotidase, deoxy (pyrimidine), cytosolic type C|uridine 5-prime monophosphate hydrolase 2" 5'-nucleotidases 1042 2001-11-20 2002-05-23 2014-11-19 30833 ENSG00000125458 OTTHUMG00000179346 uc002jmx.4 AF154829 NM_001252377 CCDS11715 Q8TCD5 10899995 MGI:1354954 RGD:2321875 191720 objectId:1238 3.1.3.5 HGNC:17144 "ENST00000245552.7|NM_014595.3" +HGNC:17819 NT5C1A 5'-nucleotidase, cytosolic IA protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "CN-I|CN-IA|CN1A|CN1|MGC119199|MGC119201" "cytosolic 5' nucleotidase, type 1A|AMP-specific 5'-NT|cytosolic 5'-nucleotidase IA" 5'-nucleotidases 1042 2002-04-18 2016-10-05 84618 ENSG00000116981 OTTHUMG00000009244 uc001cdq.1 AF331801 NM_032526 CCDS440 Q9BXI3 "11133996|11690631" MGI:2155700 RGD:1310908 610525 objectId:1234 3.1.3.5 HGNC:17819 "ENST00000235628.2|NM_032526.3" +HGNC:17818 NT5C1B 5'-nucleotidase, cytosolic IB protein-coding gene gene with protein product Approved 2p24.2 02p24.2 "AIRP|CN-IB" 5'-nucleotidases 1042 2002-04-18 2015-09-01 93034 ENSG00000185013 OTTHUMG00000151765 uc061gxg.1 AF356185 NM_001002006 "CCDS33150|CCDS33149" Q96P26 11690631 MGI:1918131 RGD:1309705 610526 objectId:1235 3.1.3.5 HGNC:17818 +HGNC:38831 NT5C1B-RDH14 NT5C1B-RDH14 readthrough other readthrough Approved 2p24.2 02p24.2 2011-02-21 2014-11-18 100526794 ENSG00000250741 OTTHUMG00000161546 uc061gxf.1 NM_001199103.1 MGI:1918131 HGNC:38831 +HGNC:8022 NT5C2 5'-nucleotidase, cytosolic II protein-coding gene gene with protein product Approved 10q24.32-q24.33 10q24.32-q24.33 "PNT5|GMP|cN-II|SPG65" purine 5' nucleotidase "NT5B|SPG45" "5'-nucleotidase (purine), cytosolic type B|spastic paraplegia 45 (autosomal recessive)" 5'-nucleotidases 1042 2000-06-16 2002-04-19 2002-04-18 2019-07-09 22978 ENSG00000076685 OTTHUMG00000018981 uc001kwq.4 D38524 NM_012229 CCDS7544 P49902 "7999131|24482476|28327087" MGI:2178563 RGD:2323387 NT5C2 600417 398201 objectId:1236 3.1.3.5 HGNC:8022 "ENST00000404739.8|NM_001351169.2" HGNC:8022 +HGNC:17820 NT5C3A 5'-nucleotidase, cytosolic IIIA protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "UMPH1|PSN1|PN-I|UMPH|P5'N-1|cN-III|p36|POMP|hUMP1" lupin NT5C3 5'-nucleotidase, cytosolic III 5'-nucleotidases 1042 2002-04-18 2013-03-06 2013-03-06 2014-11-19 51251 ENSG00000122643 OTTHUMG00000152983 uc003tdj.5 AF312735 NM_016489 "CCDS34616|CCDS55101|CCDS34617" Q9H0P0 "11042152|10942414" MGI:1927186 RGD:1312013 606224 123953 objectId:1237 3.1.3.5 HGNC:17820 "ENST00000610140.7|NM_001002010.5" HGNC:17820 +HGNC:18530 NT5C3AP1 NT5C3A pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 UMPH1P NT5C3P1 "5'-nucleotidase, cytosolic III pseudogene 1|5'-nucleotidase, cytosolic IIIA pseudogene 1" 2002-04-18 2013-03-06 2019-10-16 2019-10-16 90859 ENSG00000213492 OTTHUMG00000059451 NG_000948 11369620 PGOHUM00000245669 HGNC:18530 +HGNC:54578 NT5C3AP2 NT5C3A pseudogene 2 pseudogene pseudogene Approved 3q13.2 03q13.2 2019-10-16 2019-10-16 100420394 ENSG00000244720 OTTHUMG00000159278 NG_025725 PGOHUM00000299534 +HGNC:28300 NT5C3B 5'-nucleotidase, cytosolic IIIB protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "MGC20781|cN-IIIB" NT5C3L 5'-nucleotidase, cytosolic III-like 2005-11-15 2013-01-31 2013-01-31 2016-04-25 115024 ENSG00000141698 OTTHUMG00000133499 uc021txo.2 NM_052935 CCDS11410 Q969T7 "23223233|24603684" MGI:1915356 RGD:1359229 "3.1.3.5|3.1.3.91" HGNC:28300 "ENST00000435506.7|NM_052935.5" +HGNC:20046 NT5CP1 5',3'-nucleotidase, cytosolic pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 2003-01-13 2014-11-19 326609 ENSG00000258524 OTTHUMG00000171605 NG_002598 PGOHUM00000247856 HGNC:20046 +HGNC:20047 NT5CP2 5',3'-nucleotidase, cytosolic pseudogene 2 pseudogene pseudogene Approved 14q24.3 14q24.3 2003-01-13 2014-11-19 326611 ENSG00000258408 OTTHUMG00000171604 NG_002599 PGOHUM00000262890 HGNC:20047 +HGNC:39789 NT5CP3 5',3'-nucleotidase, cytosolic pseudogene 3 pseudogene pseudogene Approved 13q21.33 13q21.33 2011-03-29 2012-10-16 100420457 NG_024866 PGOHUM00000262885 HGNC:39789 +HGNC:21556 NT5DC1 5'-nucleotidase domain containing 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "dJ486I3.1|MGC24302" NT5C2L1 5'-nucleotidase, cytosolic II-like 1 2003-06-24 2006-01-27 2006-01-27 2016-10-05 221294 ENSG00000178425 OTTHUMG00000015428 uc003pwj.4 BC015138 NM_152729 CCDS5104 Q5TFE4 MGI:2442446 RGD:1305214 HGNC:21556 "ENST00000319550.9|NM_152729.3" +HGNC:55018 NT5DC1P1 NT5DC1 pseudogene 1 pseudogene pseudogene Approved Xq21.32 Xq21.32 2020-05-22 2020-05-22 100131340 ENSG00000237381 NG_022624 +HGNC:55019 NT5DC1P2 NT5DC1 pseudogene 2 pseudogene pseudogene Approved Xq26.2 Xq26.2 2020-05-22 2020-05-22 402425 ENSG00000214961 NG_022705 +HGNC:25717 NT5DC2 5'-nucleotidase domain containing 2 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 FLJ12442 2006-01-27 2014-11-19 64943 ENSG00000168268 OTTHUMG00000158626 uc003deo.4 AF131781 NM_022908 "CCDS2858|CCDS46843" Q9H857 "8619474|9110174" MGI:1917271 RGD:1305524 HGNC:25717 "ENST00000422318.7|NM_001134231.2" +HGNC:30826 NT5DC3 5'-nucleotidase domain containing 3 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "TU12B1-TY|FLJ11266" 2006-02-01 2016-10-05 51559 ENSG00000111696 OTTHUMG00000157017 uc010swe.2 AB032786 NM_016575 CCDS41824 Q86UY8 MGI:3513266 RGD:1593358 611076 HGNC:30826 "ENST00000392876.8|NM_001031701.3" +HGNC:27678 NT5DC4 5'-nucleotidase domain containing 4 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 2006-01-27 2018-11-16 284958 ENSG00000144130 OTTHUMG00000153308 uc002tid.4 BC041437 NM_001350494 CCDS86877 Q86YG4 HGNC:27678 "ENST00000688554.1|NM_001393655.1" +HGNC:8021 NT5E 5'-nucleotidase ecto protein-coding gene gene with protein product Approved 6q14.3 06q14.3 "CD73|eN|eNT|CALJA" NT5 "5' nucleotidase (CD73)|5'-nucleotidase, ecto (CD73)" "CD molecules|5'-nucleotidases" "471|1042" 1989-02-23 2002-04-19 2016-01-14 2016-10-05 4907 ENSG00000135318 OTTHUMG00000015139 uc003pko.5 X55740 NM_001204813 "CCDS5002|CCDS56439" P21589 MGI:99782 RGD:61956 129190 289604 objectId:1232 CD73 3.1.3.5 HGNC:8021 "ENST00000257770.8|NM_002526.4" HGNC:8021 +HGNC:55194 NT5ELP 5' nucleotidase, ecto-like, pseudogene pseudogene pseudogene Approved 5q12.3 05q12.3 2020-08-13 2020-08-13 118568826 ENSG00000236068 MGI:1914013 +HGNC:15769 NT5M 5',3'-nucleotidase, mitochondrial protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "dNT-2|dNT2|mdN" 5' nucleotidase, mitochondrial 5'-nucleotidases 1042 2001-06-21 2002-05-23 2014-11-19 56953 ENSG00000205309 OTTHUMG00000059277 uc002grf.4 AF210652 NM_020201 CCDS32581 Q9NPB1 10899995 MGI:1917127 RGD:1309622 605292 objectId:1239 3.1.3.5 HGNC:15769 "ENST00000389022.9|NM_020201.4" +HGNC:29909 NTAN1 N-terminal asparagine amidase protein-coding gene gene with protein product Approved 16p13.11 16p13.11 2004-08-19 2020-03-09 123803 ENSG00000157045 OTTHUMG00000129849 uc002ddd.5 AF092440 NM_173474 "CCDS10558|CCDS73832" Q96AB6 8910481 MGI:108471 RGD:1305160 615367 3.5.1.121 HGNC:29909 "ENST00000287706.8|NM_173474.4" +HGNC:45261 NTAN1P1 N-terminal asparagine amidase pseudogene 1 pseudogene pseudogene Approved 10q25.3 10q25.3 2013-03-12 2016-08-16 100420389 ENSG00000270965 OTTHUMG00000184683 NG_025462 PGOHUM00000289997 HGNC:45261 +HGNC:45262 NTAN1P2 N-terminal asparagine amidase pseudogene 2 pseudogene pseudogene Approved 8q21.3 08q21.3 2013-03-12 2013-03-12 100420307 ENSG00000250569 OTTHUMG00000160478 NG_026048 PGOHUM00000249419 HGNC:45262 +HGNC:45263 NTAN1P3 N-terminal asparagine amidase pseudogene 3 pseudogene pseudogene Approved 12q15 12q15 2013-03-12 2013-03-12 100420356 ENSG00000256355 OTTHUMG00000169067 NG_024031 PGOHUM00000262198 HGNC:45263 +HGNC:25490 NTAQ1 N-terminal glutamine amidase 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 FLJ10204 "C8orf32|WDYHV1" "chromosome 8 open reading frame 32|WDYHV motif containing 1" 2005-07-18 2020-03-09 2020-03-09 2020-03-09 55093 ENSG00000156795 OTTHUMG00000165093 uc003yqn.3 AK001066 NM_018024 "CCDS64965|CCDS6344" Q96HA8 19560421 MGI:1924023 RGD:1311362 3.5.1.122 HGNC:25490 "ENST00000287387.7|NM_018024.3" +HGNC:8023 NTF3 neurotrophin 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 NGF2 Neurotrophins 1585 1991-01-15 2016-10-05 4908 ENSG00000185652 OTTHUMG00000168649 uc001qnl.5 NM_001102654 "CCDS44806|CCDS8538" P20783 1889806 MGI:97380 RGD:619728 162660 ligandId:5033 HGNC:8023 "ENST00000423158.4|NM_001102654.2" +HGNC:8024 NTF4 neurotrophin 4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "NT-4/5|GLC1O" neurotrophic factor 4 NTF5 neurotrophin 5 (neurotrophin 4/5) Neurotrophins 1585 1992-10-15 2008-01-31 2008-01-31 2019-08-21 4909 ENSG00000225950 OTTHUMG00000191728 uc061ayz.1 NM_006179 CCDS12754 P34130 1496419 MGI:97381 RGD:3212 162662 356272 ligandId:5034 HGNC:8024 +HGNC:8025 NTF6A neurotrophin 6 alpha (pseudogene) pseudogene pseudogene Approved 19q13.33 19q13.33 "PSI-NT4|NTF5P" NTF6 Neurotrophins 1585 1992-10-15 2008-01-31 2016-10-05 4910 ENSG00000267019 OTTHUMG00000180607 M86529 NG_029362 "1496419|1313578" PGOHUM00000295058 HGNC:8025 +HGNC:8026 NTF6B neurotrophin 6 beta (pseudogene) pseudogene pseudogene Approved 19q13.33 19q13.33 Neurotrophins 1585 1992-12-08 2008-01-31 2016-11-15 4911 ENSG00000267685 OTTHUMG00000180623 S41540 NG_029363 1496419 PGOHUM00000295059 HGNC:8026 +HGNC:8027 NTF6G neurotrophin 6 gamma (pseudogene) pseudogene pseudogene Approved 19q13.33 19q13.33 neurotrophin 6, gamma pseudogene Neurotrophins 1585 1992-12-08 2008-01-31 2016-07-26 4912 ENSG00000267099 OTTHUMG00000180608 S41541 NG_029364 1496419 PGOHUM00000295400 HGNC:8027 +HGNC:8028 NTHL1 nth like DNA glycosylase 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "NTH1|OCTS3" "nth (E.coli endonuclease III)-like 1|nth endonuclease III-like 1 (E. coli)" DNA glycosylases 1024 1998-05-27 2016-07-15 2021-04-13 4913 ENSG00000065057 OTTHUMG00000128744 uc002col.1 U81285 NM_002528 CCDS10457 P78549 "9045706|8990169" MGI:1313275 RGD:1309289 LRG_1366|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1366.xml 602656 458253 "3.2.2.-|4.2.99.18" HGNC:8028 "ENST00000651570.2|NM_002528.7" HGNC:8028 +HGNC:17941 NTM neurotrimin protein-coding gene gene with protein product Approved 11q25 11q25 "HNT|NTRI|IGLON2|CEPU-1" "neurotrimin|IgLON family member 2" "I-set domain containing|IgLON cell adhesion molecules" "593|1052" 2009-01-12 2017-07-07 50863 ENSG00000182667 OTTHUMG00000066364 uc001qgp.4 AF126426 NM_016522 "CCDS8491|CCDS44778|CCDS44777|CCDS41733" Q9P121 7891157 MGI:2446259 RGD:620958 607938 470798 HGNC:17941 "ENST00000683400.1|NM_001352005.2" +HGNC:32293 NTM-AS1 NTM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q25 11q25 FLJ45436 C11orf39 chromosome 11 open reading frame 39 Antisense RNAs 1987 2005-09-22 2015-10-01 2015-10-01 2020-04-20 101929637 ENSG00000224795 OTTHUMG00000066439 AK127362 NR_126159 Q6ZSK4 NTM-AS1 HGNC:32293 +HGNC:41437 NTM-IT NTM intronic transcript non-coding RNA RNA, long non-coding Approved 11q25 11q25 NTM-IT3 "NTM intronic transcript 3 (non-protein coding)|NTM intronic transcript (non-protein coding)" Intronic transcripts 1989 2011-05-31 2013-02-18 2015-02-25 2015-02-25 100874281 ENSG00000238262 OTTHUMG00000150047 uc058jfl.1 AA398869 NR_046820 NTM-IT HGNC:41437 +HGNC:23373 NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "AD-003|HOMT1A|NRMT1|NRMT" "C9orf32|METTL11A" "chromosome 9 open reading frame 32|methyltransferase like 11A" 7BS protein methyltransferases 2058 2005-11-22 2012-06-12 2012-06-12 2017-11-03 28989 ENSG00000148335 OTTHUMG00000020785 uc033dis.2 AF110776 NM_014064 "CCDS35160|CCDS75918|CCDS69682" Q9BV86 20481588 MGI:1913867 RGD:1306582 613560 2.1.1.244 HGNC:23373 "ENST00000372483.9|NM_014064.4" +HGNC:31932 NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 HOMT1B "C1orf184|METTL11B" "chromosome 1 open reading frame 184|methyltransferase like 11B" "MicroRNA protein coding host genes|7BS protein methyltransferases" "1691|2058" 2005-08-08 2021-05-17 2021-05-17 2021-05-17 149281 ENSG00000203740 OTTHUMG00000035959 uc009wvv.2 "AL445203|CAH72139" NM_001136107 CCDS44275 Q5VVY1 24090352 MGI:2685053 RGD:1564106 HGNC:31932 "ENST00000439373.3|NM_001136107.2" +HGNC:8029 NTN1 netrin 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 NTN1L Netrin-1 Netrins 661 1999-04-15 2015-02-16 9423 ENSG00000065320 OTTHUMG00000130257 uc002glw.4 U75586 NM_004822 CCDS11148 O95631 9950216 MGI:105088 RGD:619809 601614 470800 HGNC:8029 "ENST00000173229.7|NM_004822.3" HGNC:8029 +HGNC:8030 NTN3 netrin 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Netrin-3 NTN2L "netrin 2 (chicken)-like|netrin 2-like (chicken)" Netrins 661 1997-02-05 2008-10-29 2008-10-29 2015-09-01 4917 ENSG00000162068 OTTHUMG00000128867 uc002cqj.3 U86759 NM_006181 CCDS10469 O00634 "9143507|10366627" MGI:1341188 RGD:619811 602349 HGNC:8030 "ENST00000293973.2|NM_006181.3" +HGNC:13658 NTN4 netrin 4 protein-coding gene gene with protein product Approved 12q22 12q22 "beta-netrin|Netrin-4" Netrins 661 2000-09-27 2014-11-19 59277 ENSG00000074527 OTTHUMG00000170290 uc001tei.3 AF119916 NM_021229 "CCDS86325|CCDS86324|CCDS9054" Q9HB63 11038171 MGI:1888978 RGD:1565947 610401 HGNC:13658 "ENST00000343702.9|NM_021229.4" +HGNC:25208 NTN5 netrin 5 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Netrin-5 Netrins 661 2008-12-01 2018-06-04 126147 ENSG00000142233 OTTHUMG00000183321 uc002pkb.3 NM_145807 CCDS33068 Q8WTR8 26858598 MGI:2685330 RGD:1565197 HGNC:25208 "ENST00000270235.11|NM_145807.4" +HGNC:23319 NTNG1 netrin G1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "KIAA0976|Lmnt1" "netrin G1f|Netrin-G1" Netrins 661 2003-12-02 2016-10-05 22854 ENSG00000162631 OTTHUMG00000010965 uc001dvh.5 AB023193 NM_014917 "CCDS44180|CCDS81354|CCDS44179|CCDS30785" Q9Y2I2 10964959 MGI:1934028 RGD:1563465 608818 179408 HGNC:23319 "ENST00000370068.6|NM_001113226.3" HGNC:23319 +HGNC:14288 NTNG2 netrin G2 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "KIAA1857|Lmnt2" Netrin-G2 NTNG1 netrin G1 Netrins 661 2001-01-02 2003-12-03 2003-12-02 2016-10-05 84628 ENSG00000196358 OTTHUMG00000020835 uc004cbh.3 AB058760 NM_032536 CCDS6946 Q96CW9 MGI:2159341 RGD:1307089 618689 HGNC:14288 "ENST00000393229.4|NM_032536.4" HGNC:14288 +HGNC:28204 NTPCR nucleoside-triphosphatase, cancer-related protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "MGC13186|HCR-NTPase|THEP1" human cancer-related NTPase C1orf57 chromosome 1 open reading frame 57 2005-05-10 2010-12-20 2010-12-20 2018-12-20 84284 ENSG00000135778 OTTHUMG00000037822 uc001hvj.2 BC005102 NM_032324 CCDS1597 Q9BSD7 "17291528|19519914" MGI:1913816 RGD:1306192 3.6.1.15 HGNC:28204 "ENST00000366628.10|NM_032324.3" +HGNC:8031 NTRK1 neurotrophic receptor tyrosine kinase 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "TRK|TRKA|MTC" high affinity nerve growth factor receptor neurotrophic tyrosine kinase, receptor, type 1 "Receptor tyrosine kinases|Immunoglobulin like domain containing" "321|594" 1991-07-18 2016-03-31 2021-04-13 4914 ENSG00000198400 OTTHUMG00000041304 uc001fqh.2 Y09028 NM_002529 "CCDS30891|CCDS30890|CCDS1161" P04629 2869410 MGI:97383 RGD:620144 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_261|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_261.xml" NTRK1 191315 123961 objectId:1817 2.7.10.1 HGNC:8031 "ENST00000524377.7|NM_002529.4" HGNC:8031 +HGNC:8032 NTRK2 neurotrophic receptor tyrosine kinase 2 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 TRKB BDNF/NT-3 growth factors receptor neurotrophic tyrosine kinase, receptor, type 2 "Receptor tyrosine kinases|I-set domain containing" "321|593" 1991-07-18 2016-03-31 2018-07-09 4915 ENSG00000148053 OTTHUMG00000020120 uc064uau.1 AF410902 NM_001007097 "CCDS35053|CCDS35050|CCDS35051|CCDS35052|CCDS6671" Q16620 7789988 MGI:97384 RGD:3213 600456 363263 objectId:1818 2.7.10.1 HGNC:8032 "ENST00000277120.8|NM_006180.6" HGNC:8032 +HGNC:8033 NTRK3 neurotrophic receptor tyrosine kinase 3 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 TRKC neurotrophic tyrosine kinase, receptor, type 3 "Receptor tyrosine kinases|I-set domain containing" "321|593" 1991-07-18 2016-03-31 2016-10-05 4916 ENSG00000140538 OTTHUMG00000148677 uc002bmf.3 U05012 NM_001007156 "CCDS81916|CCDS32323|CCDS58399|CCDS32322|CCDS10340" Q16288 7806211 MGI:97385 RGD:3214 NTRK3 191316 246681 objectId:1819 2.7.10.1 HGNC:8033 +HGNC:27532 NTRK3-AS1 NTRK3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.3 15q25.3 NTRK3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 283738 ENSG00000260305 OTTHUMG00000173016 uc021sub.1 AK097486 NR_038229 NTRK3-AS1 HGNC:27532 +HGNC:8038 NTS neurotensin protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "neuromedin N|pro-neurotensin/neuromedin" Neuropeptides 1902 1989-06-02 2015-08-25 4922 ENSG00000133636 OTTHUMG00000169832 uc001tag.4 NM_006183 CCDS9029 P30990 MGI:1328351 RGD:621612 162650 ligandId:1577 HGNC:8038 "ENST00000256010.7|NM_006183.5" +HGNC:8039 NTSR1 neurotensin receptor 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 NTR neurotensin receptor 1 (high affinity) Neurotensin receptors 244 1993-11-30 2016-08-25 2016-10-05 4923 ENSG00000101188 OTTHUMG00000032932 uc002ydf.3 NM_002531 CCDS13502 P30989 8075503 MGI:97386 RGD:1306076 162651 objectId:309 HGNC:8039 "ENST00000370501.4|NM_002531.3" +HGNC:8040 NTSR2 neurotensin receptor 2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 NTR2 Neurotensin receptors 244 2000-01-20 2014-11-19 23620 ENSG00000169006 OTTHUMG00000119083 uc002rbq.5 Y10148 NM_012344 CCDS1681 O95665 "8647296|9851594" MGI:108018 RGD:70962 605538 objectId:310 HGNC:8040 "ENST00000306928.6|NM_012344.4" +HGNC:14311 NUAK1 NUAK family kinase 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "ARK5|KIAA0537" AMP-activated protein kinase family member 5 NUAK family, SNF1-like kinase, 1 2005-06-08 2016-03-10 2020-05-04 9891 ENSG00000074590 OTTHUMG00000169763 uc001tlj.2 AB011109 NM_014840 CCDS31892 O60285 "12409306|13679856" MGI:1925226 RGD:1309956 608130 470802 objectId:2129 HGNC:14311 "ENST00000261402.7|NM_014840.3" +HGNC:29558 NUAK2 NUAK family kinase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "SNARK|FLJ90349" SNF1/AMP activated protein kinase NUAK family, SNF1-like kinase, 2 2005-06-08 2016-03-10 2016-03-10 81788 ENSG00000163545 OTTHUMG00000037196 uc001hce.5 AK074830 NM_030952 CCDS1453 Q9H093 11230166 MGI:1921387 RGD:1359167 608131 objectId:2130 HGNC:29558 "ENST00000367157.6|NM_030952.3" HGNC:29558 +HGNC:17623 NUB1 negative regulator of ubiquitin like proteins 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "BS4|NYREN18|NUB1L" NEDD8 ultimate buster-1 2006-07-27 2016-06-07 2016-10-05 51667 ENSG00000013374 OTTHUMG00000157365 uc003wjw.6 AF300717 NM_016118 CCDS87565 Q9Y5A7 "10508479|11259415" MGI:1889001 RGD:1359489 607981 470804 HGNC:17623 "ENST00000568733.6|NM_001243351.2" +HGNC:8041 NUBP1 NUBP iron-sulfur cluster assembly factor 1, cytosolic protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "NBP35|CIAO5" NBP1 "nucleotide binding protein 1 (E.coli MinD like)|nucleotide binding protein 1 (MinD homolog, E. coli)|nucleotide binding protein 1" Cytosolic iron-sulfur assembly components 1028 1998-07-03 2021-12-13 2021-12-13 4682 ENSG00000103274 OTTHUMG00000129751 uc002daa.3 U01833 NM_002484 "CCDS61839|CCDS10543" P53384 7926816 MGI:1347073 RGD:1310514 600280 HGNC:8041 "ENST00000283027.10|NM_002484.4" +HGNC:8042 NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CFD1|CIAO6" "nucleotide binding protein 2 (E.coli MinD like)|nucleotide binding protein 2 (MinD homolog, E. coli)|nucleotide binding protein 2" Cytosolic iron-sulfur assembly components 1028 1999-05-25 2021-12-13 2021-12-13 10101 ENSG00000095906 OTTHUMG00000128639 uc002cmw.6 AF118394 NM_012225 "CCDS10445|CCDS66898" Q9Y5Y2 10486206 MGI:1347072 RGD:1305113 610779 HGNC:8042 "ENST00000262302.14|NM_012225.4" +HGNC:20278 NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial protein-coding gene gene with protein product Approved 14q12 14q12 "FLJ12660|IND1|huInd1" iron-sulfur protein required for NADH dehydrogenase C14orf127 "chromosome 14 open reading frame 127|nucleotide binding protein-like|nucleotide binding protein like" "Mitochondrial respiratory chain complex assembly factors|Mitochondrial iron-sulfur assembly components" "645|1853" 2003-01-17 2005-01-07 2021-12-13 2021-12-13 80224 ENSG00000151413 OTTHUMG00000170521 uc001wrk.5 AK022722 NM_025152 CCDS41940 Q8TB37 "19752196|20818383" MGI:1924076 RGD:1307232 613621 244371 HGNC:20278 "ENST00000281081.12|NM_025152.3" HGNC:20278 +HGNC:55483 NUBPL-DT NUBPL divergent transcript non-coding RNA RNA, long non-coding Approved 14q12 14q12 Divergent transcripts 1990 2021-03-11 2021-03-11 105370437 ENSG00000257155 XR_943720 +HGNC:8043 NUCB1 nucleobindin 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "NUC|Calnuc" EF-hand domain containing 863 1996-09-13 2014-11-19 4924 ENSG00000104805 OTTHUMG00000152514 uc002plb.5 BC002356 NM_006184 CCDS12740 Q02818 8661046 MGI:97388 RGD:620030 601323 objectId:2871 HGNC:8043 "ENST00000405315.9|NM_006184.6" +HGNC:40419 NUCB1-AS1 NUCB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 NUCB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100874085 ENSG00000235191 OTTHUMG00000152526 uc061axj.1 NR_046633 NUCB1-AS1 HGNC:40419 +HGNC:8044 NUCB2 nucleobindin 2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 NEFA novel DNA binding/EF-hand/leucine zipper protein EF-hand domain containing 863 1996-09-13 2019-08-21 4925 ENSG00000070081 OTTHUMG00000166050 uc001mmw.4 AF052642 NM_005013 "CCDS81556|CCDS41623" P80303 7811391 MGI:1858179 RGD:620888 608020 HGNC:8044 "ENST00000529010.6|NM_005013.4" +HGNC:29923 NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 NUCKS 2005-07-11 2016-06-08 2016-06-08 64710 ENSG00000069275 OTTHUMG00000035996 uc001hdb.4 NM_022731 CCDS30987 Q9H1E3 11298763 MGI:1934811 RGD:620993 611912 HGNC:29923 "ENST00000367142.5|NM_022731.5" +HGNC:51943 NUCKS1P1 nuclear casein kinase and cyclin dependent kinase substrate 1 pseudogene 1 pseudogene pseudogene Approved 1q42.13 01q42.13 2015-10-07 2016-06-08 2016-06-08 100130466 ENSG00000232864 OTTHUMG00000037613 PGOHUM00000296078 HGNC:51943 +HGNC:8045 NUDC nuclear distribution C, dynein complex regulator protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "nuclear distribution gene C homolog (A. nidulans)|nuclear distribution C homolog (A. nidulans)|nudC nuclear distribution protein" NudC family 1285 1999-01-22 2016-06-13 2020-05-04 10726 ENSG00000090273 OTTHUMG00000004226 uc001bng.3 NM_006600 CCDS292 Q9Y266 MGI:106014 RGD:3215 610325 HGNC:8045 "ENST00000321265.10|NM_006600.4" +HGNC:24306 NUDCD1 NudC domain containing 1 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "CML66|FLJ14991" NudC family 1285 2005-02-07 2016-10-05 84955 ENSG00000120526 OTTHUMG00000164931 uc003ynb.5 AF283302 NM_032869 "CCDS6312|CCDS47910" Q96RS6 11416219 MGI:1914679 RGD:1310624 606109 HGNC:24306 "ENST00000239690.9|NM_032869.4" +HGNC:30535 NUDCD2 NudC domain containing 2 protein-coding gene gene with protein product Approved 5q34 05q34 "DKFZp686E10109|NudCL2" NudC family 1285 2005-02-07 2016-06-13 134492 ENSG00000170584 OTTHUMG00000130378 uc003lze.4 BX538290 NM_145266 CCDS4361 Q8WVJ2 20133715 MGI:1277103 RGD:1307203 HGNC:30535 "ENST00000302764.9|NM_145266.6" +HGNC:22208 NUDCD3 NudC domain containing 3 protein-coding gene gene with protein product Approved 7p13 07p13 "KIAA1068|NudCL" NudC family 1285 2005-02-07 2016-10-05 23386 ENSG00000015676 OTTHUMG00000129174 uc003tkz.4 BC003691 NM_015332 CCDS5490 Q8IVD9 16754861 MGI:2144158 RGD:1642416 610296 HGNC:22208 "ENST00000355451.8|NM_015332.4" +HGNC:8046 NUDCP1 nuclear distribution C pseudogene 1 pseudogene pseudogene Approved 2q23.3 02q23.3 nuclear distribution gene C (A.nidulans) homolog, pseudogene 1 1999-01-22 2016-06-13 2020-01-08 10790 ENSG00000213197 AF125466 NG_001230 10453739 HGNC:8046 +HGNC:8047 NUDCP2 nuclear distribution C pseudogene 2 pseudogene pseudogene Approved 2q31 02q31 nuclear distribution gene C (A.nidulans) homolog, pseudogene 2 1999-01-22 2016-06-13 2020-01-08 10789 ENSG00000238082 AF125467 NG_001229 10453739 HGNC:8047 +HGNC:8048 NUDT1 nudix hydrolase 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "mutT human homolog 1|nudix motif 1|8-oxo-7,8-dihydrodeoxyguanosine triphosphatase|8-oxo-dGTPase|7,8-dihydro-8-oxoguanine triphosphatase|8-oxo-7,8-dihydroguanosine triphosphatase|nucleoside diphosphate-linked moiety X-type motif 1" MTH1 nudix (nucleoside diphosphate linked moiety X)-type motif 1 Nudix hydrolase family 667 1994-09-29 2015-11-13 2016-10-05 4521 ENSG00000106268 OTTHUMG00000023072 uc003slr.1 D16581 NM_002452 "CCDS5330|CCDS5329" P36639 "7713494|8226881" MGI:109280 RGD:621080 600312 HGNC:8048 "ENST00000356714.6|NM_002452.4" +HGNC:8049 NUDT2 nudix hydrolase 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "Ap4A hydrolase 1|Ap4Aase|bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)|diadenosine tetraphosphatase|diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase" APAH1 nudix (nucleoside diphosphate linked moiety X)-type motif 2 Nudix hydrolase family 667 1997-04-25 2015-11-13 2016-10-05 318 ENSG00000164978 OTTHUMG00000019817 uc003zub.3 U30313 NM_001161 CCDS6552 P50583 "7487923|9479504" MGI:1913651 RGD:1303023 602852 HGNC:8049 "ENST00000379158.7|NM_001161.5" +HGNC:8050 NUDT3 nudix hydrolase 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 DIPP nudix (nucleoside diphosphate linked moiety X)-type motif 3 Nudix hydrolase family 667 1999-09-03 2015-11-13 2016-10-05 11165 ENSG00000272325 OTTHUMG00000014545 uc003ojl.4 AF062530 NM_006703 CCDS4791 O95989 9822604 MGI:1928484 RGD:1310183 609228 HGNC:8050 "ENST00000607016.2|NM_006703.4" +HGNC:8051 NUDT4 nudix hydrolase 4 protein-coding gene gene with protein product Approved 12q22 12q22 "DIPP2|HDCMB47P|KIAA0487|DIPP2alpha|DIPP2beta" diphosphoinositol polyphosphate phosphohydrolase type 2 nudix (nucleoside diphosphate linked moiety X)-type motif 4 Nudix hydrolase family 667 1999-09-03 2015-11-13 2016-10-05 11163 ENSG00000173598 OTTHUMG00000170155 uc010sup.3 AF067803 NM_019094 "CCDS73504|CCDS44952|CCDS76584|CCDS9044" Q9NZJ9 "10777568|11376937" MGI:1918457 RGD:621355 609229 HGNC:8051 "ENST00000415493.7|NM_019094.6" +HGNC:18012 NUDT4B nudix hydrolase 4B protein-coding gene gene with protein product Approved 1q21.2 01q21.2 NUDT4P1 "nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1|nudix hydrolase 4 pseudogene 1" 2002-02-13 2017-10-26 2017-10-26 2020-06-15 440672 ENSG00000177144 OTTHUMG00000188673 AF311215 NM_001355407 CCDS86013 A0A024RBG1 11376937 PGOHUM00000244201 HGNC:18012 "ENST00000322209.5|NM_001355407.2" +HGNC:18013 NUDT4P2 nudix hydrolase 4 pseudogene 2 pseudogene pseudogene Approved 1q21.1 01q21.1 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 2 2002-02-13 2015-11-13 2015-11-13 170688 ENSG00000271121 OTTHUMG00000188666 AF311216 NR_104005 11376937 HGNC:18013 +HGNC:8052 NUDT5 nudix hydrolase 5 protein-coding gene gene with protein product Approved 10p14 10p14 "hYSAH1|YSA1H" nudix (nucleoside diphosphate linked moiety X)-type motif 5 Nudix hydrolase family 667 1999-09-03 2015-11-13 2015-11-13 11164 ENSG00000165609 OTTHUMG00000017682 uc001ilj.4 AF155832 NM_001321647 CCDS7089 Q9UKK9 10373642 MGI:1858232 RGD:1359284 609230 HGNC:8052 "ENST00000491614.6|NM_014142.4" +HGNC:8053 NUDT6 nudix hydrolase 6 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "gfg-1|gfg|FGF2AS|FGF-AS" nudix (nucleoside diphosphate linked moiety X)-type motif 6 Nudix hydrolase family 667 1999-09-03 2015-11-13 2016-10-05 11162 ENSG00000170917 OTTHUMG00000039507 uc003iew.3 AF019632 NM_007083 "CCDS43268|CCDS3729" P53370 "7984147|10022609" MGI:2387618 RGD:621356 606261 HGNC:8053 "ENST00000304430.10|NM_007083.5" +HGNC:8054 NUDT7 nudix hydrolase 7 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 nudix (nucleoside diphosphate linked moiety X)-type motif 7 Nudix hydrolase family 667 2000-03-29 2015-11-13 2019-08-20 283927 ENSG00000140876 OTTHUMG00000176808 uc010chd.4 AA227330 NM_001105663 "CCDS58480|CCDS58479|CCDS42195|CCDS73916" P0C024 11415433 MGI:1914778 RGD:1306719 609231 objectId:3085 HGNC:8054 "ENST00000268533.9|NM_001105663.3" +HGNC:8055 NUDT8 nudix hydrolase 8 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ41567 nudix (nucleoside diphosphate linked moiety X)-type motif 8 Nudix hydrolase family 667 2000-03-29 2015-11-13 2015-11-13 254552 ENSG00000167799 OTTHUMG00000167292 uc001omn.4 AI743601 NM_181843 "CCDS8174|CCDS58151" Q8WV74 11415433 MGI:1913637 RGD:1309040 HGNC:8055 "ENST00000376693.3|NM_001243750.2" +HGNC:8056 NUDT9 nudix hydrolase 9 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 MGC3037 nudix (nucleoside diphosphate linked moiety X)-type motif 9 Nudix hydrolase family 667 2000-05-02 2015-11-13 2015-11-13 53343 ENSG00000170502 OTTHUMG00000130591 uc003hqq.4 AY026252 NM_001248011 "CCDS3621|CCDS3620" Q9BW91 "11385575|12427752" MGI:1921417 RGD:1359522 606022 HGNC:8056 "ENST00000302174.9|NM_024047.5" +HGNC:28523 NUDT9P1 nudix hydrolase 9 pseudogene 1 pseudogene pseudogene Approved 10q23.32 10q23.32 "MGC34007|bA56M3.1" C10orf98 "chromosome 10 open reading frame 98|nudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1" 2004-04-16 2005-07-21 2015-11-13 2016-08-17 119369 ENSG00000234043 OTTHUMG00000018739 BC029544 NR_002779 12477932 PGOHUM00000289948 HGNC:28523 +HGNC:17621 NUDT10 nudix hydrolase 10 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DIPP3a|hDIPP3alpha" nudix (nucleoside diphosphate linked moiety X)-type motif 10 Nudix hydrolase family 667 2002-02-13 2015-11-13 2016-10-05 170685 ENSG00000122824 OTTHUMG00000021530 uc004dph.3 AF469196 NM_153183 CCDS35278 Q8NFP7 12105228 "MGI:2147931|MGI:1930957" 300527 HGNC:17621 "ENST00000356450.3|NM_001304963.2" +HGNC:18011 NUDT11 nudix hydrolase 11 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DIPP3b|FLJ10628|hDIPP3beta" nudix (nucleoside diphosphate linked moiety X)-type motif 11 Nudix hydrolase family 667 2002-02-13 2015-11-13 2016-10-05 55190 ENSG00000196368 OTTHUMG00000021531 uc010njt.4 AK001490 NM_018159 CCDS43952 Q96G61 12105228 "MGI:2147931|MGI:1930957" RGD:1594183 300528 HGNC:18011 "ENST00000375992.4|NM_018159.4" +HGNC:18826 NUDT12 nudix hydrolase 12 protein-coding gene gene with protein product Approved 5q21.2 05q21.2 DKFZP761I172 nucleoside diphosphate linked moiety X-type motif 12 nudix (nucleoside diphosphate linked moiety X)-type motif 12 "Ankyrin repeat domain containing|Nudix hydrolase family" "403|667" 2002-07-22 2015-11-13 2016-10-05 83594 ENSG00000112874 OTTHUMG00000128739 uc003koi.4 AL136592 NM_031438 "CCDS4096|CCDS75284" Q9BQG2 11230166 MGI:1915243 RGD:1310902 609232 HGNC:18826 "ENST00000230792.7|NM_031438.4" +HGNC:18827 NUDT13 nudix hydrolase 13 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 DKFZp586P2219 nudix (nucleoside diphosphate linked moiety X)-type motif 13 Nudix hydrolase family 667 2002-07-22 2015-11-13 2016-10-05 25961 ENSG00000166321 OTTHUMG00000018453 uc001jtj.5 AL050114 NM_015901 "CCDS60551|CCDS60553|CCDS60552|CCDS73148|CCDS31220" Q86X67 15164054 MGI:1914975 RGD:1592767 609233 HGNC:18827 "ENST00000357321.9|NM_015901.6" +HGNC:20141 NUDT14 nudix hydrolase 14 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 UGPP uridine diphosphate glucose pyrophosphatase nudix (nucleoside diphosphate linked moiety X)-type motif 14 Nudix hydrolase family 667 2002-12-18 2015-11-13 2015-11-13 256281 ENSG00000183828 OTTHUMG00000170372 uc010tyn.4 AB087802 NM_177533 CCDS10000 O95848 12429023 MGI:1913424 RGD:1310583 609219 HGNC:20141 "ENST00000392568.7|NM_177533.5" +HGNC:23063 NUDT15 nudix hydrolase 15 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "MTH2|FLJ10956" nudix (nucleoside diphosphate linked moiety X)-type motif 15 Nudix hydrolase family 667 2003-12-22 2015-11-13 2021-05-26 55270 ENSG00000136159 OTTHUMG00000016890 uc001vbw.2 NM_018283 CCDS9407 Q9NV35 "12767940|25108385" MGI:2443366 RGD:1308292 PharmVar Pharmacogene Variation Consortium|https://www.pharmvar.org/gene/NUDT15 615792 422883 HGNC:23063 "ENST00000258662.3|NM_018283.4" +HGNC:17266 NUDT15P1 nudix hydrolase 15 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 1 2005-07-21 2015-11-13 2015-11-13 574532 NG_031937 HGNC:17266 +HGNC:20784 NUDT15P2 nudix hydrolase 15 pseudogene 2 pseudogene pseudogene Approved 17q11.2 17q11.2 nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 2 2005-07-21 2015-11-13 2015-11-13 574533 NG_032793 HGNC:20784 +HGNC:26442 NUDT16 nudix hydrolase 16 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 FLJ31265 nudix (nucleoside diphosphate linked moiety X)-type motif 16 Nudix hydrolase family 667 2005-01-25 2015-11-13 2018-06-04 131870 ENSG00000198585 OTTHUMG00000159623 uc003eog.3 AK055827 NM_152395 "CCDS3070|CCDS54641|CCDS54640" Q96DE0 "18820299|21337011" MGI:1922936 RGD:1311387 617381 HGNC:26442 "ENST00000521288.2|NM_152395.3" +HGNC:27947 NUDT16-DT NUDT16 divergent transcript non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 Divergent transcripts 1990 2021-03-24 2021-03-24 339874 ENSG00000250608 NR_038976 +HGNC:28154 NUDT16L1 nudix hydrolase 16 like 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SDOS|TIRR" syndesmos nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 Nudix hydrolase family 667 2005-01-25 2015-11-13 2019-07-02 84309 ENSG00000168101 OTTHUMG00000129471 uc002cxe.4 BC006223 NM_032349 "CCDS10519|CCDS59257" Q9BRJ7 "11805099|18820299" MGI:1914161 RGD:1561451 617338 HGNC:28154 +HGNC:27189 NUDT16L2P nudix hydrolase 16 like 2, pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 FLJ20525 "NUDT16P|NUDT16P1" "nudix (nucleoside diphosphate linked moiety X)-type motif 16 pseudogene|nudix hydrolase 16 pseudogene 1" 2006-04-05 2020-08-13 2020-08-13 2021-10-07 152195 ENSG00000246082 OTTHUMG00000159755 AK000532 NR_027766 12477932 MGI:1920782 PGOHUM00000250305 HGNC:27189 +HGNC:26618 NUDT17 nudix hydrolase 17 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 FLJ34433 nucleoside diphosphate-linked moiety X motif 17 nudix (nucleoside diphosphate linked moiety X)-type motif 17 Nudix hydrolase family 667 2005-02-02 2015-11-13 2018-11-16 200035 ENSG00000186364 OTTHUMG00000013752 uc001eoe.4 BC046352 NM_001012758 CCDS72865 P0C025 23353937 MGI:1925623 RGD:1565469 HGNC:26618 "ENST00000334513.6|NM_001012758.3" +HGNC:26194 NUDT18 nudix hydrolase 18 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "FLJ22494|MTH3" mutT human homolog 3 nudix (nucleoside diphosphate linked moiety X)-type motif 18 Nudix hydrolase family 667 2005-07-07 2015-11-13 2016-10-25 79873 ENSG00000275074 OTTHUMG00000163774 uc033beu.2 NM_024815 CCDS75706 Q6ZVK8 22556419 MGI:2385853 RGD:1311802 615791 HGNC:26194 "ENST00000611621.2|NM_024815.4" +HGNC:32036 NUDT19 nudix hydrolase 19 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 RP2 nudix (nucleoside diphosphate linked moiety X)-type motif 19 Nudix hydrolase family 667 2005-07-07 2015-11-13 2018-11-16 390916 ENSG00000213965 OTTHUMG00000180228 uc010edf.3 NM_001105570 CCDS42543 A8MXV4 MGI:94203 RGD:1302935 HGNC:32036 "ENST00000397061.4|NM_001105570.2" +HGNC:55296 NUDT19-DT NUDT19 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Divergent transcripts 1990 2020-10-14 2020-10-14 118827810 ENSG00000267475 +HGNC:43585 NUDT19P1 NUDT19 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 "nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 1|nudix hydrolase 19 pseudogene 1" 2011-11-16 2020-06-04 2020-06-04 100126008 NG_006970 PGOHUM00000241515 HGNC:43585 +HGNC:43586 NUDT19P2 NUDT19 pseudogene 2 pseudogene pseudogene Approved Xq22.1 Xq22.1 "nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 2|nudix hydrolase 19 pseudogene 2" 2011-11-16 2020-06-04 2020-06-04 100422458 ENSG00000224632 NG_026867 PGOHUM00000241928 HGNC:43586 +HGNC:43587 NUDT19P3 NUDT19 pseudogene 3 pseudogene pseudogene Approved 6q21 06q21 "nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 3|nudix hydrolase 19 pseudogene 3" 2011-11-16 2020-06-04 2020-06-04 100422450 ENSG00000216723 OTTHUMG00000015410 NG_025857 PGOHUM00000243333 HGNC:43587 +HGNC:43588 NUDT19P4 NUDT19 pseudogene 4 pseudogene pseudogene Approved 6p21.1 06p21.1 "nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 4|nudix hydrolase 19 pseudogene 4" 2011-11-16 2020-06-04 2020-06-04 100422452 ENSG00000270900 OTTHUMG00000184541 NG_025936 PGOHUM00000301800 HGNC:43588 +HGNC:43589 NUDT19P5 NUDT19 pseudogene 5 pseudogene pseudogene Approved 4q32.1 04q32.1 "nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 5|nudix hydrolase 19 pseudogene 5" 2011-11-16 2020-06-04 2020-06-04 100422445 ENSG00000251073 OTTHUMG00000162011 NG_025267 PGOHUM00000246116 HGNC:43589 +HGNC:55061 NUDT19P6 NUDT19 pseudogene 6 pseudogene pseudogene Approved Xq24 Xq24 2020-06-04 2020-06-04 107985644 ENSG00000270625 +HGNC:13870 NUDT21 nudix hydrolase 21 protein-coding gene gene with protein product Approved 16q13 16q13 CFIM25 cleavage factor Im complex 25 kDa subunit CPSF5 "cleavage and polyadenylation specific factor 5, 25 kDa|cleavage and polyadenylation specific factor 5, 25 kD subunit|nudix (nucleoside diphosphate linked moiety X)-type motif 21" "Nudix hydrolase family|Cleavage factor Im complex subunits" "667|2101" 2001-02-06 2005-07-11 2015-11-13 2016-10-05 11051 ENSG00000167005 OTTHUMG00000133240 uc002eja.4 AJ001810 NM_007006 CCDS10760 O43809 9659921 MGI:1915469 RGD:1305766 604978 HGNC:13870 "ENST00000300291.10|NM_007006.3" +HGNC:39461 NUDT21P1 nudix hydrolase 21 pseudogene 1 pseudogene pseudogene Approved 13q31.2 13q31.2 nudix (nucleoside diphosphate linked moiety X)-type motif 21 pseudogene 1 2011-01-17 2015-11-13 2015-11-13 100422467 NG_024870 PGOHUM00000248453 HGNC:39461 +HGNC:28189 NUDT22 nudix hydrolase 22 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 MGC13045 nudix (nucleoside diphosphate linked moiety X)-type motif 22 Nudix hydrolase family 667 2005-07-21 2015-11-13 2018-06-04 84304 ENSG00000149761 OTTHUMG00000167791 uc001nyp.6 BC006129 NM_032344 "CCDS8061|CCDS44640" Q9BRQ3 29413322 MGI:1915573 RGD:735224 HGNC:28189 "ENST00000279206.8|NM_032344.4" +HGNC:14621 NUF2 NUF2 component of NDC80 kinetochore complex protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "NUF2R|CT106" cancer/testis antigen 106 CDCA1 "cell division cycle associated 1|NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)|NDC80 kinetochore complex component NUF2" NDC80 kinetochore complex 1573 2002-04-03 2006-11-07 2019-01-25 2019-01-25 83540 ENSG00000143228 OTTHUMG00000034275 uc001gcr.2 BG354574 NM_145697 CCDS1245 Q9BZD4 "11266451|11685532" MGI:1914227 RGD:1307952 611772 HGNC:14621 "ENST00000271452.8|NM_145697.3" +HGNC:8057 NUFIP1 nuclear FMR1 interacting protein 1 protein-coding gene gene with protein product Approved 13q14.12 13q14.12 "NUFIP|Rsa1" nuclear fragile X mental retardation protein interacting protein 1 1999-12-14 2018-08-15 2020-01-06 26747 ENSG00000083635 OTTHUMG00000016842 uc001uzp.3 AF159548 NM_012345 CCDS9393 Q9UHK0 "10556305|10894927" MGI:1351474 RGD:1359440 604354 HGNC:8057 "ENST00000379161.5|NM_012345.3" +HGNC:8058 NUFIP1P1 NUFIP1 pseudogene 1 pseudogene pseudogene Approved 6q12 06q12 NUFIP1P "nuclear fragile X mental retardation protein interacting protein 1 pseudogene|NUFIP1 pseudogene" 2000-03-06 2019-01-25 2019-01-25 2019-01-25 89761 ENSG00000218890 OTTHUMG00000014977 NG_001030 10894927 PGOHUM00000301417 HGNC:8058 +HGNC:17634 NUFIP2 nuclear FMR1 interacting protein 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA1321|MGC117262|PIG1|182-FIP|FIP-82|82-FIP|NUFP2" "nuclear fragile X mental retardation protein interacting protein 2|NUFIP2, FMR1 interacting protein 2" 2006-01-26 2018-08-15 2022-02-28 57532 ENSG00000108256 OTTHUMG00000179547 uc002hdy.5 AB037742 NM_020772 CCDS32600 Q7Z417 "12837692|16407062" MGI:1915814 RGD:1596719 609356 HGNC:17634 "ENST00000225388.9|NM_020772.3" +HGNC:33550 NUGGC nuclear GTPase, germinal center associated protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "HMFN0672|SLIP-GC" speckled-like pattern in the germinal center C8orf80 chromosome 8 open reading frame 80 2007-07-26 2012-06-07 2012-06-07 2014-11-19 389643 ENSG00000189233 OTTHUMG00000155970 uc003xgm.4 AB075870 NM_001010906 CCDS47833 Q68CJ6 19734146 MGI:2685446 RGD:1562099 619088 HGNC:33550 "ENST00000413272.7|NM_001010906.2" +HGNC:8059 NUMA1 nuclear mitotic apparatus protein 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 NUMA MicroRNA protein coding host genes 1691 1993-03-05 2022-03-09 4926 ENSG00000137497 OTTHUMG00000167697 uc001orl.3 Z11584 NM_001286561 "CCDS66156|CCDS31633" Q14980 "8406455|31727776" MGI:2443665 RGD:1308777 NUMA1 164009 391994 HGNC:8059 "ENST00000393695.8|NM_006185.4" +HGNC:8060 NUMB NUMB endocytic adaptor protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 C14orf41 "numb (Drosophila) homolog|chromosome 14 open reading frame 41|numb homolog (Drosophila)" 1999-03-12 2019-01-22 2019-08-20 8650 ENSG00000133961 OTTHUMG00000171436 uc001xny.2 L40393 NM_001005743 "CCDS32116|CCDS55927|CCDS32115|CCDS9814" P49757 11121447 MGI:107423 RGD:620107 603728 HGNC:8060 "ENST00000555238.6|NM_001005743.2" +HGNC:8061 NUMBL NUMB like endocytic adaptor protein protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "NUMB-R|CTG3a|CAG3A|TNRC23|NUMBR|NUMBLIKE" numb (Drosophila) homolog-like 1999-03-12 2019-01-22 2019-01-22 9253 ENSG00000105245 OTTHUMG00000182627 uc002oon.5 AF015401 NM_004756 "CCDS77298|CCDS12561" Q9Y6R0 "9225980|9303539" MGI:894702 RGD:1307579 604018 HGNC:8061 "ENST00000252891.8|NM_004756.5" +HGNC:29797 NUP35 nucleoporin 35 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 MP44 mitotic phosphoprotein 44 nucleoporin 35kDa Nucleoporins 1051 2004-06-28 2016-06-01 2016-10-05 129401 ENSG00000163002 OTTHUMG00000132621 uc002upf.5 AF514993 NM_138285 "CCDS74614|CCDS2290" Q8NFH5 MGI:1916732 RGD:1303069 608140 HGNC:29797 "ENST00000295119.9|NM_138285.5" +HGNC:52370 NUP35P1 nucleoporin 35 pseudogene 1 pseudogene pseudogene Approved 10p12.2 10p12.2 2016-08-16 2016-08-16 100419066 ENSG00000223928 OTTHUMG00000017820 NG_025477 PGOHUM00000290071 HGNC:52370 +HGNC:52371 NUP35P2 nucleoporin 35 pseudogene 2 pseudogene pseudogene Approved 7q21.11 07q21.11 2017-01-12 2017-01-12 101059916 ENSG00000226285 OTTHUMG00000155463 NG_033867 PGOHUM00000302328 HGNC:52371 +HGNC:29929 NUP37 nucleoporin 37 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "MGC5585|FLJ22618" nucleoporin 37kDa "WD repeat domain containing|Nucleoporins" "362|1051" 2004-03-19 2016-06-01 2016-06-01 79023 ENSG00000075188 OTTHUMG00000170478 uc001tjc.4 AF514994 NM_024057 CCDS9089 Q8NFH4 12196509 MGI:1919964 RGD:1307774 609264 HGNC:29929 "ENST00000552283.6|NM_024057.4" HGNC:29929 +HGNC:17010 NUP42 nucleoporin 42 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "NLP_1|CG1|hCG1|H_RG271G13.9" nucleoporin-like protein 1 NUPL2 nucleoporin like 2 2003-08-07 2019-04-02 2019-04-02 2019-04-02 11097 ENSG00000136243 OTTHUMG00000096955 uc003svu.4 U97198 NM_007342 CCDS5379 O15504 "10358091|9450185" MGI:2387631 RGD:1560934 HGNC:17010 "ENST00000258742.10|NM_007342.3" +HGNC:21182 NUP43 nucleoporin 43 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "bA350J20.1|FLJ13287" nucleoporin 43kDa "WD repeat domain containing|Nucleoporins" "362|1051" 2003-05-22 2016-06-01 2016-06-01 348995 ENSG00000120253 OTTHUMG00000015795 uc003qmz.5 AF514997 NM_198887 CCDS5218 Q8NFH3 12196509 MGI:1917162 RGD:1596513 608141 HGNC:21182 "ENST00000340413.7|NM_198887.3" +HGNC:8065 NUP50 nucleoporin 50 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 NPAP60L nucleoporin 50kDa Nucleoporins 1051 2000-02-16 2016-06-01 2016-10-05 10762 ENSG00000093000 OTTHUMG00000151265 uc003bfr.4 AF107840 NM_007172 "CCDS14063|CCDS14062" Q9UKX7 10449902 MGI:1351502 RGD:3191 604646 HGNC:8065 "ENST00000347635.9|NM_007172.4" +HGNC:50502 NUP50-DT NUP50 divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 NUP50-AS1 NUP50 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-05-12 2018-03-23 2018-03-23 2018-03-23 100506714 ENSG00000226328 OTTHUMG00000151264 NR_038956 NUP50-AS1 HGNC:50502 +HGNC:20025 NUP50P1 nucleoporin 50 pseudogene 1 pseudogene pseudogene Approved 14q23.3 14q23.3 NUP50P nucleoporin 50 pseudogene 2003-01-13 2006-09-21 2006-09-21 2020-04-07 145375 ENSG00000259010 NG_002384 HGNC:20025 +HGNC:29928 NUP50P2 nucleoporin 50 pseudogene 2 pseudogene pseudogene Approved 6p22 06p22 2006-09-21 2006-09-21 266785 NG_002388 HGNC:29928 +HGNC:29927 NUP50P3 nucleoporin 50 pseudogene 3 pseudogene pseudogene Approved 5p14 05p14 2008-03-07 2008-03-07 266786 NG_002389 HGNC:29927 +HGNC:17359 NUP54 nucleoporin 54 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 nucleoporin 54kDa Nucleoporins 1051 2001-12-12 2016-06-01 2016-06-01 53371 ENSG00000138750 OTTHUMG00000130098 uc003hjs.5 AF157322 NM_001278603 "CCDS63998|CCDS3576" Q7Z3B4 8707840 MGI:1920460 RGD:619926 607607 HGNC:17359 "ENST00000264883.8|NM_017426.4" +HGNC:20261 NUP58 nucleoporin 58 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "KIAA0410|NUP45" NUPL1 "nucleoporin like 1|nucleoporin 58kDa" Nucleoporins 1051 2003-01-16 2015-08-10 2016-06-01 2016-10-05 9818 ENSG00000139496 OTTHUMG00000016608 AB007870 NM_001008564 "CCDS31949|CCDS9314" Q9BVL2 9455477 MGI:1919094 RGD:631334 607615 HGNC:20261 "ENST00000381736.8|NM_014089.4" +HGNC:44052 NUP58P1 nucleoporin 58 pseudogene 1 pseudogene pseudogene Approved 4q28.1 04q28.1 NUPL1P1 "nucleoporin like 1 pseudogene 1|nucleoporin 58kDa pseudogene 1" 2012-05-30 2015-08-10 2016-06-01 2016-06-01 100289295 ENSG00000251436 OTTHUMG00000161150 NG_022035 PGOHUM00000245692 HGNC:44052 +HGNC:8066 NUP62 nucleoporin 62 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "p62|DKFZp547L134|IBSN|SNDI|MGC841|FLJ20822|FLJ43869" nuclear pore glycoprotein p62 nucleoporin 62kDa Nucleoporins 1051 2000-01-06 2016-06-01 2021-05-26 23636 ENSG00000213024 OTTHUMG00000183077 uc002pqz.5 X58521 NM_153719 CCDS12788 P37198 1915414 MGI:1351500 RGD:619938 605815 138467 HGNC:8066 "ENST00000352066.8|NM_016553.5" HGNC:8066 +HGNC:25960 NUP62CL nucleoporin 62 C-terminal like protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 FLJ20130 nucleoporin 62kDa C-terminal like 2006-07-11 2016-06-01 2020-04-02 54830 ENSG00000198088 OTTHUMG00000022159 uc004ena.4 AK000137 NM_017681 CCDS14527 Q9H1M0 12477932 MGI:2685565 RGD:1564353 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NUP62CL HGNC:25960 "ENST00000372466.8|NM_017681.3" +HGNC:8734 NUP85 nucleoporin 85 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "NUP75|FLJ12549" nucleoporin 85kDa Nucleoporins 1051 1995-04-27 2005-11-03 2016-04-01 2020-04-01 79902 ENSG00000125450 OTTHUMG00000179482 uc002jng.2 AF514995 NM_024844 "CCDS82202|CCDS32730" Q9BW27 8124707 MGI:3046173 RGD:1311942 170285 HGNC:8734 "ENST00000245544.9|NM_024844.5" HGNC:8734 +HGNC:8067 NUP88 nucleoporin 88 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 MGC8530 "nucleoporin 88kD|nucleoporin 88kDa" Nucleoporins 1051 1998-05-01 2016-04-01 2016-10-05 4927 ENSG00000108559 OTTHUMG00000099453 uc002gbo.3 Y08612 NM_002532 CCDS11070 Q99567 9049309 MGI:104900 RGD:620182 602552 HGNC:8067 "ENST00000573584.6|NM_002532.6" HGNC:8067 +HGNC:28958 NUP93 nucleoporin 93 protein-coding gene gene with protein product Approved 16q13 16q13 KIAA0095 nuclear pore complex protein Nup93 nucleoporin 93kDa Nucleoporins 1051 2004-03-19 2016-06-01 2021-05-26 9688 ENSG00000102900 OTTHUMG00000133278 uc002eka.4 D42085 NM_014669 "CCDS10769|CCDS55996" Q8N1F7 "9348540|9531546" MGI:1919055 RGD:1311525 614351 456826 HGNC:28958 "ENST00000308159.10|NM_014669.5" HGNC:28958 +HGNC:55370 NUP93-DT NUP93 divergent transcript non-coding RNA RNA, long non-coding Approved 16q13 16q13 Divergent transcripts 1990 2020-11-11 2020-11-11 105371286 ENSG00000261302 XR_007065080 +HGNC:8068 NUP98 nucleoporin 98 and 96 precursor protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "NUP96|Nup98-Nup96|Nup98-96|NUP196" "Nuclear pore complex protein Nup98-Nup96|nucleoporin 96" "nucleoporin 98kDa|nucleoporin 98" Nucleoporins 1051 1997-07-04 2019-12-05 2021-09-23 4928 ENSG00000110713 OTTHUMG00000011846 uc001lyh.3 "AF071076|AF231130|BC012906|BG773331" NM_016320 "CCDS7746|CCDS41605|CCDS31347|CCDS41606" P52948 "9166830|18287282|10087256" MGI:109404 RGD:71033 NUP98 601021 S59.001 HGNC:8068 "ENST00000324932.12|NM_016320.5" +HGNC:29914 NUP107 nucleoporin 107 protein-coding gene gene with protein product Approved 12q15 12q15 NUP84 nuclear pore complex protein Nup107 nucleoporin 107kDa Nucleoporins 1051 2004-03-19 2016-06-01 2021-05-26 57122 ENSG00000111581 OTTHUMG00000169265 uc001suf.4 AK055629 NM_020401 "CCDS81712|CCDS8985" P57740 "12552102|12705868" MGI:2143854 RGD:621160 607617 442980 HGNC:29914 "ENST00000229179.9|NM_020401.4" HGNC:29914 +HGNC:55587 NUP107-DT NUP107 divergent transcript non-coding RNA RNA, long non-coding Approved 12q15 12q15 Divergent transcripts 1990 2021-04-26 2021-04-26 100507250 ENSG00000247363 NR_037888 +HGNC:18016 NUP133 nucleoporin 133 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 FLJ10814 nucleoporin 133kDa "Minor histocompatibility antigens|Nucleoporins" "870|1051" 2002-01-18 2016-06-01 2016-06-01 55746 ENSG00000069248 OTTHUMG00000039462 uc001htn.4 NM_018230 CCDS1579 Q8WUM0 11684705 MGI:2442620 RGD:1307827 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=NUP133 607613 HGNC:18016 "ENST00000261396.6|NM_018230.3" HGNC:18016 +HGNC:55870 NUP133-DT NUP133 divergent transcript non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Divergent transcripts 1990 2021-09-06 2021-09-06 101927478 ENSG00000223635 NR_110630 +HGNC:8062 NUP153 nucleoporin 153 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 HNUP153 nucleoporin 153kDa "Zinc fingers RANBP2-type |Nucleoporins" "89|1051" 1999-05-11 2016-06-01 2016-06-01 9972 ENSG00000124789 OTTHUMG00000014312 uc011dje.2 Z25535 NM_001278209 "CCDS64359|CCDS4541|CCDS75407" P49790 8110839 MGI:2385621 RGD:3216 603948 HGNC:8062 "ENST00000262077.3|NM_005124.4" +HGNC:55217 NUP153-AS1 NUP153 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.3 06p22.3 Antisense RNAs 1987 2020-08-21 2020-11-11 105374952 ENSG00000272269 NR_134616 +HGNC:8063 NUP155 nucleoporin 155 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "KIAA0791|N155" nucleoporin 155kDa Nucleoporins 1051 1998-10-21 2016-06-01 2016-10-05 9631 ENSG00000113569 OTTHUMG00000090803 uc003jku.3 AJ007558 "NM_153485|NM_004298" "CCDS64142|CCDS3921|CCDS43310" O75694 10191094 MGI:2181182 RGD:621199 606694 183928 HGNC:8063 "ENST00000231498.8|NM_153485.3" HGNC:8063 +HGNC:18017 NUP160 nucleoporin 160 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "KIAA0197|FLJ22583" nucleoporin 160kDa Nucleoporins 1051 2002-01-18 2016-06-01 2016-10-05 23279 ENSG00000030066 OTTHUMG00000166534 uc001ngm.4 D83781 NM_015231 CCDS81567 Q12769 11684705 MGI:1926227 RGD:1311052 607614 HGNC:18017 HGNC:18017 +HGNC:17859 NUP188 nucleoporin 188 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 KIAA0169 "KIAA0169|nucleoporin 188kDa" "Nucleoporins|Armadillo like helical domain containing" "1051|1492" 2003-11-27 2004-03-24 2016-06-01 2016-10-05 23511 ENSG00000095319 OTTHUMG00000020768 uc004bws.3 D79991 NM_015354 CCDS35156 Q5SRE5 11029043 MGI:2446190 RGD:1306022 615587 470806 HGNC:17859 "ENST00000372577.2|NM_015354.3" HGNC:17859 +HGNC:18658 NUP205 nucleoporin 205 protein-coding gene gene with protein product Approved 7q33 07q33 KIAA0225 nuclear pore complex protein Nup205 C7orf14 "chromosome 7 open reading frame 14|nucleoporin 205kDa" "Nucleoporins|Armadillo like helical domain containing" "1051|1492" 2002-05-29 2004-01-07 2016-06-01 2021-05-26 23165 ENSG00000155561 OTTHUMG00000155497 uc003vsw.4 D86978 NM_001329434 CCDS34759 Q92621 "9039502|9348540" MGI:2141625 RGD:1309413 614352 456828 HGNC:18658 "ENST00000285968.11|NM_015135.3" HGNC:18658 +HGNC:30052 NUP210 nucleoporin 210 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "GP210|POM210|FLJ22389|KIAA0906" nucleoporin 210kDa Nucleoporins 1051 2004-11-17 2016-06-01 2016-10-05 23225 ENSG00000132182 OTTHUMG00000157268 uc003bxv.3 AB020713 NM_024923 CCDS33704 Q8TEM1 "2184032|7504063" MGI:1859555 RGD:69339 607703 HGNC:30052 "ENST00000254508.7|NM_024923.4" HGNC:30052 +HGNC:29915 NUP210L nucleoporin 210 like protein-coding gene gene with protein product Approved 1q21.3 01q21.3 nucleoporin 210kDa like MicroRNA protein coding host genes 1691 2004-11-17 2016-06-01 2016-06-01 91181 ENSG00000143552 OTTHUMG00000035852 uc001fdw.4 AK125924 NM_207308 "CCDS53370|CCDS41399" Q5VU65 MGI:1924845 RGD:1310250 HGNC:29915 +HGNC:27399 NUP210P1 nucleoporin 210 pseudogene 1 pseudogene pseudogene Approved 3q21.3 03q21.3 C3orf46 "chromosome 3 open reading frame 46|nucleoporin 210kDa pseudogene 1" 2006-01-13 2011-08-16 2016-06-01 2016-10-05 255330 ENSG00000198284 OTTHUMG00000159577 BC042038 NR_034158 PGOHUM00000250302 HGNC:27399 +HGNC:42707 NUP210P2 nucleoporin 210 pseudogene 2 pseudogene pseudogene Approved 3p25.2 03p25.2 nucleoporin 210kDa pseudogene 2 2011-08-16 2016-06-01 2016-06-01 100129929 ENSG00000225275 OTTHUMG00000155295 NG_022238 PGOHUM00000237936 HGNC:42707 +HGNC:42712 NUP210P3 nucleoporin 210 pseudogene 3 pseudogene pseudogene Approved 3q21.3 03q21.3 nucleoporin 210kDa pseudogene 3 2011-08-16 2016-06-01 2016-06-01 100419070 ENSG00000248916 OTTHUMG00000159449 NG_025625 PGOHUM00000237765 HGNC:42712 +HGNC:8064 NUP214 nucleoporin 214 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "CAIN|CAN|D9S46E|N214" "nuclear pore complex protein Nup214|CAN protein, putative oncogene" "nucleoporin 214kD (CAIN)|nucleoporin 214kDa" Nucleoporins 1051 1999-05-05 2016-06-01 2021-04-13 8021 ENSG00000126883 OTTHUMG00000020816 uc004cag.4 X64228 NM_005085 "CCDS83430|CCDS6940|CCDS83429" P35658 "8108440|2370860" MGI:1095411 RGD:1304977 LRG_1383|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1383.xml NUP214 114350 168420 HGNC:8064 "ENST00000359428.10|NM_005085.4" HGNC:8064 +HGNC:29990 NUPR1 nuclear protein 1, transcriptional regulator protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "COM1|p8" candidate of metastasis 1 2009-05-21 2015-11-13 2015-11-13 26471 ENSG00000176046 OTTHUMG00000131764 uc002dqe.2 AF069073 NM_012385 "CCDS10634|CCDS42137" O60356 "9405444|10493524|10092851" MGI:1891834 RGD:69363 614812 HGNC:29990 "ENST00000324873.8|NM_012385.3" +HGNC:44164 NUPR2 nuclear protein 2, transcriptional regulator protein-coding gene gene with protein product Approved 7p11.2 07p11.2 P8 NUPR1L nuclear protein, transcriptional regulator 1 like 2012-07-02 2015-11-13 2015-11-13 2021-01-26 389493 ENSG00000185290 OTTHUMG00000156224 uc003tsb.4 NM_001145712 CCDS59058 A6NF83 25899918 MGI:1923099 RGD:1560258 HGNC:44164 "ENST00000329309.4|NM_001145712.2" +HGNC:21042 NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "MGC7199|NgBR|TANGO14" "Nogo-B receptor|transport and golgi organization 14 homolog (Drosophila)" C6orf68 "chromosome 6 open reading frame 68|nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)" Dehydrodolichyl diphosphate synthase 1733 2003-05-08 2006-11-24 2019-01-22 2019-01-22 116150 ENSG00000153989 OTTHUMG00000015458 uc003pxw.4 BC013026 NM_138459 CCDS5118 Q96E22 "25066056|28842490" MGI:1196365 RGD:1307879 610463 2.5.1.87 HGNC:21042 "ENST00000368494.4|NM_138459.5" HGNC:21042 +HGNC:38472 NUS1P1 NUS1 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 "nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 1|NUS1 dehydrodolichyl diphosphate synthase subunit pseudogene 1" 2010-05-06 2018-04-23 2018-04-23 729148 ENSG00000235636 OTTHUMG00000021444 NG_023027 HGNC:38472 +HGNC:38473 NUS1P2 NUS1 pseudogene 2 pseudogene pseudogene Approved 13q12.12 13q12.12 "nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 2|NUS1 dehydrodolichyl diphosphate synthase subunit pseudogene 2" 2010-05-06 2018-04-23 2018-04-23 646208 ENSG00000234685 OTTHUMG00000016556 NG_008458 PGOHUM00000248526 HGNC:38473 +HGNC:30934 NUS1P3 NUS1 pseudogene 3 pseudogene pseudogene Approved 13q12.12 13q12.12 YDD19 "nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 3|NUS1 dehydrodolichyl diphosphate synthase subunit pseudogene 3" 2010-05-06 2018-04-23 2018-04-23 11049 ENSG00000234627 OTTHUMG00000016577 U82319 NG_006509 9294218 PGOHUM00000248533 HGNC:30934 +HGNC:38474 NUS1P4 NUS1 pseudogene 4 pseudogene pseudogene Approved 13q32.2 13q32.2 "nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 4|NUS1 dehydrodolichyl diphosphate synthase subunit pseudogene 4" 2010-05-06 2018-04-23 2018-04-23 100130167 ENSG00000217686 OTTHUMG00000017251 NG_021964 PGOHUM00000248473 HGNC:38474 +HGNC:18538 NUSAP1 nucleolar and spindle associated protein 1 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ13421|LNP|ANKT|SAPL|BM037|PRO0310p1|Q0310" 2003-11-05 2020-05-04 51203 ENSG00000137804 OTTHUMG00000172588 uc001zns.5 AF290612 NM_016359 "CCDS58357|CCDS58358|CCDS73708|CCDS45234|CCDS58356|CCDS45236" Q9BXS6 12963707 MGI:2675669 RGD:1305764 612818 HGNC:18538 "ENST00000559596.6|NM_016359.5" +HGNC:13722 NUTF2 nuclear transport factor 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "NTF2|PP15" 2002-08-30 2014-11-19 10204 ENSG00000102898 OTTHUMG00000137540 uc002eup.4 U43939 NM_001322038 CCDS10848 P61970 "7744965|3380696" MGI:1915301 RGD:1359213 605813 HGNC:13722 "ENST00000219169.9|NM_005796.3" +HGNC:19934 NUTF2P2 nuclear transport factor 2 pseudogene 2 pseudogene pseudogene Approved 14q13.2 14q13.2 2003-01-13 2014-11-19 326613 ENSG00000258300 OTTHUMG00000170563 NG_002603 PGOHUM00000248136 HGNC:19934 +HGNC:50452 NUTF2P3 nuclear transport factor 2 pseudogene 3 pseudogene pseudogene Approved 9q21.2 09q21.2 2014-04-30 2017-03-17 106480298 ENSG00000228248 OTTHUMG00000020057 NG_044239 PGOHUM00000304335 HGNC:50452 +HGNC:50453 NUTF2P4 nuclear transport factor 2 pseudogene 4 pseudogene pseudogene Approved 1p13.2 01p13.2 2014-04-30 2014-04-30 128322 ENSG00000234790 OTTHUMG00000012021 XM_047437990 PGOHUM00000244851 HGNC:50453 +HGNC:50454 NUTF2P5 nuclear transport factor 2 pseudogene 5 pseudogene pseudogene Approved 10p13 10p13 2014-04-30 2014-04-30 106481706 ENSG00000215227 OTTHUMG00000017705 NG_047164 PGOHUM00000238676 HGNC:50454 +HGNC:50455 NUTF2P6 nuclear transport factor 2 pseudogene 6 pseudogene pseudogene Approved 15q14 15q14 2014-04-30 2014-04-30 100131623 ENSG00000259710 OTTHUMG00000172343 NG_030233 PGOHUM00000247088 HGNC:50455 +HGNC:50458 NUTF2P7 nuclear transport factor 2 pseudogene 7 pseudogene pseudogene Approved Xq13.1 Xq13.1 2014-04-30 2014-04-30 100287868 ENSG00000229324 OTTHUMG00000021783 NG_030158 PGOHUM00000241377 HGNC:50458 +HGNC:50457 NUTF2P8 nuclear transport factor 2 pseudogene 8 pseudogene pseudogene Approved 2p24.1 02p24.1 2014-04-30 2014-04-30 100287183 ENSG00000270654 OTTHUMG00000184437 NG_021496 PGOHUM00000239989 HGNC:50457 +HGNC:29919 NUTM1 NUT midline carcinoma family member 1 protein-coding gene gene with protein product Approved 15q14 15q14 "NUT|DKFZp434O192|FAM22H" nuclear protein in testis C15orf55 chromosome 15 open reading frame 55 2007-11-21 2013-03-14 2016-04-28 2016-04-28 256646 ENSG00000184507 OTTHUMG00000172348 uc001zif.4 AF482429 NM_175741 "CCDS61585|CCDS61584|CCDS32190" Q86Y26 12543779 MGI:2661384 RGD:1564529 NUTM1 608963 449858 HGNC:29919 "ENST00000537011.6|NM_001284292.2" +HGNC:23438 NUTM2A NUT family member 2A protein-coding gene gene with protein product Approved 10q23.2 10q23.2 FAM22A family with sequence similarity 22, member A 2003-11-19 2013-03-14 2013-03-14 2020-04-21 728118 ENSG00000184923 OTTHUMG00000018670 uc001kek.4 NM_001099338 CCDS44452 Q8IVF1 431093 HGNC:23438 "ENST00000381707.6|NM_001099338.2" +HGNC:45161 NUTM2A-AS1 NUTM2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.2 10q23.2 FAM22A-AS1 FAM22A antisense RNA 1 Antisense RNAs 1987 2013-02-28 2013-03-14 2013-03-14 2013-03-14 728190 ENSG00000223482 OTTHUMG00000018671 uc001kem.4 "AK311174|AK309777" NR_024397 NUTM2A-AS1 HGNC:45161 +HGNC:23445 NUTM2B NUT family member 2B protein-coding gene gene with protein product Approved 10q22.3 10q22.3 bA119F19.1 FAM22B family with sequence similarity 22, member B 2004-05-27 2013-03-14 2013-03-14 2021-10-06 729262 ENSG00000188199 OTTHUMG00000018572 uc031wmo.1 NM_001278495 CCDS60574 A6NNL0 MGI:2685652 RGD:1566043 NUTM2B 431097 HGNC:23445 +HGNC:51204 NUTM2B-AS1 NUTM2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2014-08-07 2014-08-07 101060691 ENSG00000225484 OTTHUMG00000018585 NR_120613 618639 NUTM2B-AS1 HGNC:51204 +HGNC:23447 NUTM2D NUT family member 2D protein-coding gene gene with protein product Approved 10q23.2 10q23.2 FAM22D family with sequence similarity 22, member D 2004-05-27 2013-03-14 2013-03-14 2020-06-18 728130 ENSG00000214562 OTTHUMG00000018672 uc001kes.4 NM_001009610 Q5VT03 MGI:2685652 NUTM2D HGNC:23447 "ENST00000381697.7|NM_001382304.1" +HGNC:23448 NUTM2E NUT family member 2E protein-coding gene gene with protein product Approved 10q22.3 10q22.3 FAM22E family with sequence similarity 22, member E 2004-05-27 2013-03-14 2013-03-14 2017-11-23 283008 ENSG00000228570 OTTHUMG00000018586 uc057umg.1 NM_001355263 B1AL46 MGI:2685652 460693 HGNC:23448 "ENST00000429984.5|NM_001355263.2" +HGNC:23450 NUTM2F NUT family member 2F protein-coding gene gene with protein product Approved 9q22.32 09q22.32 DKFZp434I1117 FAM22F family with sequence similarity 22, member F 2004-05-27 2013-05-02 2013-03-14 2015-09-04 54754 ENSG00000130950 OTTHUMG00000020260 NM_017561 CCDS47994 A1L443 MGI:2685652 HGNC:23450 "ENST00000253262.9|NM_017561.2" +HGNC:23449 NUTM2G NUT family member 2G protein-coding gene gene with protein product Approved 9q22.33 09q22.33 FAM22G family with sequence similarity 22, member G 2004-05-27 2013-05-02 2013-03-14 2015-09-04 441457 ENSG00000188152 OTTHUMG00000020305 NM_001170741 "CCDS43854|CCDS55329" Q5VZR2 MGI:2685652 HGNC:23449 "ENST00000372322.4|NM_001170741.3" +HGNC:45017 NUTM2HP NUT family member 2H, pseudogene pseudogene pseudogene Approved 10q11.23 10q11.23 FAM22HP family with sequence similarity 22, member H, pseudogene 2013-01-08 2013-05-02 2013-03-14 2013-05-02 729023 ENSG00000232706 OTTHUMG00000018235 NG_028755 PGOHUM00000262858 HGNC:45017 +HGNC:8070 NVL nuclear VCP like protein-coding gene gene with protein product Approved 1q42.11 01q42.11 NVL2 "Nuclear valosin-containing protein-like|nuclear VCP-like protein" "AAA ATPases|MicroRNA protein coding host genes" "413|1691" 1997-09-05 2019-02-18 2019-02-18 4931 ENSG00000143748 OTTHUMG00000037536 uc001hok.4 U78772 NM_002533 "CCDS1542|CCDS58063|CCDS1541|CCDS58062" O15381 9286697 MGI:1914709 RGD:1311270 602426 HGNC:8070 "ENST00000281701.11|NM_002533.4" +HGNC:27619 NWD1 NACHT and WD repeat domain containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 WD repeat domain containing 362 2007-02-08 2016-04-25 284434 ENSG00000188039 OTTHUMG00000164507 uc002neu.5 BX648940 NM_001007525 CCDS32945 Q149M9 MGI:2442268 RGD:2321209 616250 HGNC:27619 "ENST00000524140.7|NM_001007525.5" +HGNC:29229 NWD2 NACHT and WD repeat domain containing 2 protein-coding gene gene with protein product Approved 4p14 04p14 KIAA1239 KIAA1239 WD repeat domain containing 362 2006-07-07 2014-03-11 2014-03-11 2014-11-19 57495 ENSG00000174145 OTTHUMG00000157134 AB033065 NM_001144990 CCDS47040 Q9ULI1 10574462 MGI:1920464 RGD:1563065 HGNC:29229 "ENST00000309447.6|NM_001144990.2" +HGNC:8071 NXF1 nuclear RNA export factor 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "TAP|Mex67|DKFZp667O0311" tip associating protein MicroRNA protein coding host genes 1691 2000-06-09 2016-10-05 10482 ENSG00000162231 OTTHUMG00000167612 uc058cnh.1 AF112880 NM_006362 "CCDS8037|CCDS44629" Q9UBU9 "9175835|9660949" MGI:1858330 RGD:62014 602647 HGNC:8071 "ENST00000294172.7|NM_006362.5" +HGNC:8072 NXF2 nuclear RNA export factor 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "CT39|TAPL-2" "cancer/testis antigen 39|TAP like protein 2" 2000-06-09 2015-09-04 56001 ENSG00000269405 OTTHUMG00000189320 uc004eix.5 AJ277526 NM_017809 CCDS14497 Q9GZY0 "11073998|11279525" MGI:1919091 300315 HGNC:8072 "ENST00000625106.4|NM_022053.4" +HGNC:23984 NXF2B nuclear RNA export factor 2B protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 bA353J17.1 2007-08-03 2015-09-04 728343 ENSG00000269437 OTTHUMG00000154920 uc022cav.2 NM_001099686 CCDS43979 Q9GZY0 16382448 "MGI:1933192|MGI:2159343" RGD:1559530 HGNC:23984 +HGNC:8073 NXF3 nuclear RNA export factor 3 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 2000-06-09 2020-04-02 56000 ENSG00000147206 OTTHUMG00000022088 uc004eju.5 AJ277527 NM_022052 CCDS14503 Q9H4D5 11073998 MGI:2685230 RGD:1564923 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NXF3 300316 HGNC:8073 "ENST00000395065.8|NM_022052.2" +HGNC:8074 NXF4 nuclear RNA export factor 4 pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 nuclear RNA export factor 4 2000-07-31 2016-10-05 55999 ENSG00000196970 OTTHUMG00000039695 AK124700 NR_002216 11566096 300318 HGNC:8074 +HGNC:8075 NXF5 nuclear RNA export factor 5 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 2000-07-31 2020-04-02 55998 ENSG00000126952 OTTHUMG00000022042 uc065aiu.1 AJ277654 NR_028089 CCDS14491 Q9H1B4 11566096 MGI:1933192 RGD:1566170 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NXF5 300319 470808 HGNC:8075 +HGNC:18008 NXN nucleoredoxin protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ12614|NRX" Nucleoredoxin family 1466 2002-01-16 2016-10-05 64359 ENSG00000167693 OTTHUMG00000090307 uc002fsa.4 NM_001205319 "CCDS56013|CCDS10998" Q6DKJ4 MGI:109331 RGD:1310489 612895 HGNC:18008 "ENST00000336868.8|NM_022463.5" HGNC:18008 +HGNC:25179 NXNL1 nucleoredoxin like 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 RDCVF rod-derived cone viability factor TXNL6 thioredoxin-like 6 Nucleoredoxin family 1466 2004-08-05 2007-08-16 2017-05-15 2018-06-04 115861 ENSG00000171773 OTTHUMG00000182798 uc002ngs.4 BC014127 NM_138454 CCDS12360 Q96CM4 29138681 MGI:1924446 RGD:1308296 608791 HGNC:25179 "ENST00000301944.3|NM_138454.2" HGNC:25179 +HGNC:30482 NXNL2 nucleoredoxin like 2 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 RdCVF2 rod-derived cone viability factor 2 C9orf121 chromosome 9 open reading frame 121 Nucleoredoxin family 1466 2004-04-15 2007-08-16 2017-05-12 2017-05-15 158046 ENSG00000130045 OTTHUMG00000020170 uc011ltj.2 BC022521 NM_145283 "CCDS55325|CCDS6679" Q5VZ03 "22343139|25596499" MGI:1922374 RGD:1594820 615299 HGNC:30482 "ENST00000375854.8|NM_001161625.2" +HGNC:50561 NXNP1 nucleoredoxin pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 2014-05-21 2014-05-21 100130251 ENSG00000226693 OTTHUMG00000037140 NG_028320 PGOHUM00000259516 HGNC:50561 +HGNC:28527 NXPE1 neurexophilin and PC-esterase domain family member 1 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 MGC34290 FAM55A "family with sequence similarity 55, member A|neurexophilin and PC-esterase domain family, member 1" 2005-01-25 2012-06-11 2015-11-18 2015-11-18 120400 ENSG00000095110 OTTHUMG00000168284 uc001ppa.5 BC029049 NM_152315 CCDS8372 Q8N323 12477932 MGI:3584036 RGD:1566243 HGNC:28527 +HGNC:26331 NXPE2 neurexophilin and PC-esterase domain family member 2 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 FLJ25224 FAM55B "family with sequence similarity 55, member B|neurexophilin and PC-esterase domain family, member 2" 2005-01-25 2012-06-11 2015-11-18 2015-11-18 120406 ENSG00000204361 OTTHUMG00000168293 uc009yyy.3 AK057953 NM_182495 CCDS44738 Q96DL1 MGI:1925502 RGD:2323193 HGNC:26331 "ENST00000389586.6|NM_182495.6" +HGNC:44082 NXPE2P1 neurexophilin and PC-esterase domain family member 2 pseudogene 1 pseudogene pseudogene Approved 11q23.2 11q23.2 neurexophilin and PC-esterase domain family, member 2 pseudogene 1 2012-06-11 2015-11-18 2015-11-18 101926945 ENSG00000255982 OTTHUMG00000168290 NG_046621 PGOHUM00000242493 HGNC:44082 +HGNC:28238 NXPE3 neurexophilin and PC-esterase domain family member 3 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 MGC15606 FAM55C "family with sequence similarity 55, member C|neurexophilin and PC-esterase domain family, member 3" 2005-01-25 2012-06-11 2015-11-18 2015-11-18 91775 ENSG00000144815 OTTHUMG00000159179 uc010hpn.4 AK054664 NM_145037 CCDS2945 Q969Y0 12975309 MGI:2686598 RGD:1584648 HGNC:28238 "ENST00000273347.10|NM_145037.4" +HGNC:23117 NXPE4 neurexophilin and PC-esterase domain family member 4 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 FLJ20127 "C11orf33|FAM55D" "chromosome 11 open reading frame 33|family with sequence similarity 55, member D|neurexophilin and PC-esterase domain family, member 4" 2003-09-30 2012-06-11 2015-11-18 2016-10-05 54827 ENSG00000137634 OTTHUMG00000168291 uc001ppc.4 AK000134 NM_017678 "CCDS44737|CCDS41718" Q6UWF7 20056006 MGI:1924792 RGD:1560781 618133 HGNC:23117 "ENST00000375478.4|NM_001077639.2" +HGNC:20693 NXPH1 neurexophilin 1 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 2003-03-20 2016-10-05 30010 ENSG00000122584 OTTHUMG00000151941 uc003srv.3 AB047362 NM_152745 CCDS47540 P58417 9570794 MGI:107492 RGD:3218 604639 HGNC:20693 "ENST00000405863.6|NM_152745.3" +HGNC:8076 NXPH2 neurexophilin 2 protein-coding gene gene with protein product Approved 2q22.1 02q22.1 NPH2 1999-09-16 2015-09-01 11249 ENSG00000144227 OTTHUMG00000153636 uc002tvi.4 AF043467 NM_007226 CCDS46421 O95156 9570794 MGI:107491 RGD:1598138 604635 HGNC:8076 "ENST00000272641.4|NM_007226.3" +HGNC:8077 NXPH3 neurexophilin 3 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 NPH3 1999-09-16 2016-01-15 11248 ENSG00000182575 OTTHUMG00000161491 uc002ipa.4 AF043468 NM_007225 CCDS11550 O95157 9570794 MGI:1336188 RGD:620693 604636 HGNC:8077 "ENST00000328741.6|NM_007225.4" +HGNC:8078 NXPH4 neurexophilin 4 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 NPH4 1999-09-16 2015-08-25 11247 ENSG00000182379 OTTHUMG00000171241 uc010srf.2 AF043469 NM_007224 CCDS8933 O95158 9570794 MGI:1336197 RGD:628723 604637 HGNC:8078 "ENST00000349394.6|NM_007224.4" +HGNC:15913 NXT1 nuclear transport factor 2 like export factor 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "P15|MTR2" "NTX2-like export factor1|NTF2-like export factor 1|nuclear transport factor 2-like export factor 1" 2001-06-21 2016-04-05 2016-10-05 29107 ENSG00000132661 OTTHUMG00000032059 uc002wsx.2 AF156957 NM_013248 CCDS13150 Q9UKK6 "10567585|11259602" MGI:1929619 RGD:1309327 605811 HGNC:15913 "ENST00000254998.3|NM_013248.3" +HGNC:40734 NXT1-AS1 NXT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 Antisense RNAs 1987 2019-08-16 2019-08-16 105372572 ENSG00000234832 OTTHUMG00000032064 XR_937384 HGNC:40734 +HGNC:39708 NXT1P1 nuclear transport factor 2 like export factor 1 pseudogene 1 pseudogene pseudogene Approved 13q13.3 13q13.3 NTF2-like export factor 1 pseudogene 1 2011-03-23 2016-04-05 2017-03-22 100652801 ENSG00000214823 OTTHUMG00000016766 NG_030242 PGOHUM00000291929 HGNC:39708 +HGNC:18151 NXT2 nuclear transport factor 2 like export factor 2 protein-coding gene gene with protein product Approved Xq23 Xq23 P15-2 nuclear transport factor 2-like export factor 2 2002-12-02 2016-04-05 2016-10-05 55916 ENSG00000101888 OTTHUMG00000022185 uc004eof.3 AF246127 NM_018698 "CCDS14546|CCDS56605|CCDS56606" Q9NPJ8 11073998 MGI:2147914 RGD:1560204 300320 HGNC:18151 "ENST00000372106.6|NM_001242617.2" +HGNC:56212 NXTAR negative expression of androgen receptor regulating lncRNA non-coding RNA RNA, long non-coding Approved Xq12 Xq12 next to androgen receptor Long non-coding RNAs with non-systematic symbols 1992 2022-03-16 2022-03-16 105373241 XR_938423 34740892 +HGNC:22009 NYAP1 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ37538 "C7orf51|KIAA1486L" "chromosome 7 open reading frame 51|KIAA1486-like|neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1" 2007-07-10 2011-11-30 2016-03-14 2016-03-14 222950 ENSG00000166924 OTTHUMG00000155290 uc003uvd.3 AK094857 NM_173564 CCDS5696 Q6ZVC0 21946561 MGI:2443880 RGD:1310964 615477 HGNC:22009 "ENST00000300179.7|NM_173564.4" +HGNC:29291 NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KIAA1486 KIAA1486 2009-07-09 2011-11-30 2011-11-30 2014-11-19 57624 ENSG00000144460 OTTHUMG00000153450 uc002voe.3 AB040919 NM_020864 CCDS46529 Q9P242 "10819331|21946561" MGI:2443135 RGD:9171458 615478 HGNC:29291 +HGNC:20165 NYNRIN NYN domain and retroviral integrase containing protein-coding gene gene with protein product Approved 14q12 14q12 "FLJ11811|CGIN1" Cousin of GIN1 KIAA1305 KIAA1305 2003-11-21 2009-10-14 2009-10-14 2015-08-25 57523 ENSG00000205978 OTTHUMG00000171314 uc001wpf.4 AB037726 NM_025081 CCDS45090 Q9P2P1 "19561090|17114934" MGI:2652872 RGD:6486974 HGNC:20165 "ENST00000382554.4|NM_025081.3" +HGNC:8082 NYX nyctalopin protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "CLRP|CSNB1A" "CSNB1|CSNB4" 2000-07-31 2021-05-26 60506 ENSG00000188937 OTTHUMG00000021370 uc004dfh.3 AF254868 NM_022567 CCDS14256 Q9GZU5 "11062471|11062472" MGI:2448607 RGD:1561300 Mutations of Nyctalopin|http://www.retina-international.org/files/sci-news/nyxmut.htm 300278 123966 HGNC:8082 "ENST00000378220.3|NM_001378477.3" HGNC:8082 +HGNC:44362 OACYLP O-acyltransferase like, pseudogene pseudogene pseudogene Approved 18q21.32 18q21.32 ACYL3P acyltransferase 3, pseudogene 2012-08-20 2012-08-22 390858 ENSG00000224367 OTTHUMG00000154709 DV080257 NR_024021 "20210993|18085818" MGI:2442915 HGNC:44362 +HGNC:28752 OAF out at first homolog protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC52117 OAF homolog (Drosophila) 2005-12-22 2015-07-02 2015-07-02 220323 ENSG00000184232 OTTHUMG00000166139 uc001pxb.4 BC047726 NM_178507 CCDS8430 Q86UD1 12477932 MGI:94852 RGD:1305890 HGNC:28752 "ENST00000328965.9|NM_178507.4" +HGNC:21257 OARD1 O-acyl-ADP-ribose deacylase 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "MGC19570|dJ34B21.3|TARG1" terminal ADP-ribose protein glycohydrolase 1 C6orf130 chromosome 6 open reading frame 130 Macro domain containing 1693 2003-05-29 2012-11-06 2012-11-06 2015-03-17 221443 ENSG00000124596 OTTHUMG00000014667 uc003opm.4 AJ420538 NM_145063 "CCDS87396|CCDS87395|CCDS87397|CCDS34445" Q9Y530 21849506 MGI:2146818 RGD:1308299 614393 3.5.1.- HGNC:21257 "ENST00000424266.7|NM_001329686.2" +HGNC:8086 OAS1 2'-5'-oligoadenylate synthetase 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "OIASI|IFI-4" 2'-5' oligoadenylate synthase 1 OIAS "2',5'-oligoadenylate synthetase 1 (40-46 kD)|2'-5'-oligoadenylate synthetase 1, 40/46kDa" 2'-5'-oligoadenylate synthetase family 2093 2001-06-22 2015-11-09 2021-05-26 4938 ENSG00000089127 OTTHUMG00000169792 uc001tuc.4 X04371 NM_001032409 "CCDS31905|CCDS81742|CCDS41838|CCDS44980" P00973 "9344649|9325053" "MGI:2180860|MGI:97430|MGI:2149633|MGI:2140770|MGI:2180856|MGI:2180855|MGI:97429|MGI:2180853" RGD:621760 164350 2.7.7.- HGNC:8086 "ENST00000202917.10|NM_016816.4" HGNC:8086 +HGNC:8087 OAS2 2'-5'-oligoadenylate synthetase 2 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "2'-5'-oligoadenylate synthetase 2 (69-71 kD)|2'-5'-oligoadenylate synthetase 2, 69/71kDa" 2'-5'-oligoadenylate synthetase family 2093 1998-06-10 2015-11-09 2016-11-09 4939 ENSG00000111335 OTTHUMG00000169802 uc001tuj.4 M87284 NM_001032731 "CCDS31906|CCDS41839|CCDS44982" P29728 9790745 MGI:2180852 RGD:1359697 603350 HGNC:8087 "ENST00000392583.7|NM_002535.3" +HGNC:8088 OAS3 2'-5'-oligoadenylate synthetase 3 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "2'-5'-oligoadenylate synthetase 3 (100 kD)|2'-5'-oligoadenylate synthetase 3, 100kDa" 2'-5'-oligoadenylate synthetase family 2093 1998-06-10 2015-11-09 2016-11-10 4940 ENSG00000111331 OTTHUMG00000169795 uc001tug.4 AF063613 NM_006187 CCDS44981 Q9Y6K5 9790745 MGI:2180850 RGD:1359319 603351 HGNC:8088 "ENST00000228928.12|NM_006187.4" +HGNC:8090 OASL 2'-5'-oligoadenylate synthetase like protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "TRIP14|p59OASL|OASL1" 2'-5'-oligoadenylate synthetase-like 2'-5'-oligoadenylate synthetase family 2093 1998-10-12 2016-03-10 2017-09-22 8638 ENSG00000135114 OTTHUMG00000154981 uc001tzj.3 AF063611 NM_003733 "CCDS73536|CCDS9212|CCDS9211" Q15646 10087211 MGI:2180849 RGD:1308586 603281 HGNC:8090 +HGNC:53738 OASL2P 2'-5' oligoadenylate synthetase like 2, pseudogene pseudogene pseudogene Approved 12q24.31 12q24.31 2'-5'-oligoadenylate synthetase family 2093 2017-09-27 2021-08-13 111216278 ENSG00000283542 OTTHUMG00000191853 NG_065995 MGI:1344390 HGNC:53738 +HGNC:8091 OAT ornithine aminotransferase protein-coding gene gene with protein product Approved 10q26.13 10q26.13 HOGA "Ornithine aminotransferase|ornithine aminotransferase precursor|gyrate atrophy" 2001-06-22 2010-01-20 2021-04-13 4942 ENSG00000065154 OTTHUMG00000019213 uc001lhp.4 BC016928 NM_000274 "CCDS53586|CCDS7639" P04181 1682785 MGI:97394 RGD:621724 LRG_685|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_685.xml 613349 123971 2.6.1.13 HGNC:8091 "ENST00000368845.6|NM_000274.4" HGNC:8091 +HGNC:8094 OATP1 ornithine aminotransferase pseudogene 1 pseudogene pseudogene Approved 10q26 10q26 OATL3 ornithine aminotransferase-like 3 (pseudogene) 1993-09-08 2010-10-15 2010-10-15 2010-10-15 4945 S65768 NG_001169 8406505 HGNC:8094 +HGNC:8095 OAZ1 ornithine decarboxylase antizyme 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "AZI|MGC138338|AZ1" antizyme 1 OAZ 1996-03-19 2019-08-20 4946 ENSG00000104904 OTTHUMG00000178459 uc002lvk.4 NM_004152 "CCDS77214|CCDS58639" P54368 "7811704|8954789" MGI:109433 RGD:3219 601579 HGNC:8095 +HGNC:54556 OAZ1P1 OAZ1 pseudogene 1 pseudogene pseudogene Approved 1p34.2 01p34.2 2019-10-14 2019-10-14 728602 ENSG00000226745 NG_022778 +HGNC:8096 OAZ2 ornithine decarboxylase antizyme 2 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 1998-06-22 2019-08-21 4947 ENSG00000180304 OTTHUMG00000172473 uc002ano.3 AF057297 NM_002537 CCDS58372 O95190 "9782076|10352227" MGI:109492 RGD:1562933 604152 HGNC:8096 +HGNC:8097 OAZ3 ornithine decarboxylase antizyme 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 2000-08-01 2014-11-19 51686 ENSG00000143450 OTTHUMG00000013061 uc010pdl.4 AF175296 NM_016178 "CCDS58028|CCDS81378|CCDS76216" Q9UMX2 10781085 MGI:1858170 RGD:1599278 605138 HGNC:8097 +HGNC:20308 OBI1 ORC ubiquitin ligase 1 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 FLJ13449 "C13orf7|RNF219" "chromosome 13 open reading frame 7|ring finger protein 219" Ring finger proteins 58 2003-01-24 2019-06-14 2019-06-14 2019-06-14 79596 ENSG00000152193 OTTHUMG00000017122 uc001vkw.2 BC028586 NM_024546 CCDS31997 Q5W0B1 31160578 MGI:1919736 RGD:1564706 615906 HGNC:20308 "ENST00000282003.7|NM_024546.4" +HGNC:42700 OBI1-AS1 OBI1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q22.3-q31.1 13q22.3-q31.1 "POU4F1-AS1|RNF219-AS1" "POU4F1 antisense RNA 1|RNF219 antisense RNA 1" Antisense RNAs 1987 2011-08-16 2019-06-14 2019-06-14 2019-06-14 100874222 ENSG00000234377 OTTHUMG00000185746 uc001vks.3 NR_047001 RNF219-AS1 HGNC:42700 +HGNC:23380 OBP2A odorant binding protein 2A protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "hOBPIIa|OBP|LCN13" Lipocalins 631 2003-11-14 2016-10-05 29991 ENSG00000122136 OTTHUMG00000020909 uc004cgb.3 AJ251029 NM_014582 "CCDS6992|CCDS78455|CCDS78456" Q9NY56 "MGI:102668|MGI:102669|MGI:2387617|MGI:3651927" RGD:1588212 164320 HGNC:23380 "ENST00000371776.6|NM_014582.3" +HGNC:23381 OBP2B odorant binding protein 2B protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "hOBPIIb|LCN14" Lipocalins 631 2003-11-14 2016-10-05 29989 ENSG00000171102 OTTHUMG00000020860 uc033djy.2 AJ251026 NM_014581 CCDS6961 Q9NPH6 "MGI:102668|MGI:3651927" 604606 HGNC:23381 "ENST00000372034.8|NM_014581.4" +HGNC:15719 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "KIAA1556|UNC89|KIAA1639|ARHGEF30" "Fibronectin type III domain containing|I-set domain containing|Dbl family Rho GEFs|Myosin light chain kinase family" "555|593|722|1668" 2001-05-21 2021-04-13 84033 ENSG00000154358 OTTHUMG00000039772 uc001hsq.2 AJ002535 NM_052843 "CCDS59204|CCDS1570|CCDS58065" Q5VST9 "11448995|11814696" MGI:2681862 RGD:631335 LRG_412|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_412.xml 608616 470810 objectId:2131 HGNC:15719 "ENST00000680850.1|NM_001386125.1" HGNC:15719 +HGNC:32047 OBSCN-AS1 OBSCN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 FLJ31994 C1orf145 chromosome 1 open reading frame 145 Antisense RNAs 1987 2005-07-11 2017-04-19 2017-04-19 2017-04-19 574407 ENSG00000162913 OTTHUMG00000039770 uc057qdy.1 AK056556 NR_073154 Q96MR7 HGNC:32047 +HGNC:29092 OBSL1 obscurin like cytoskeletal adaptor 1 protein-coding gene gene with protein product Approved 2q35 02q35 KIAA0657 obscurin like 1 I-set domain containing 593 2005-10-20 2019-08-12 2021-05-26 23363 ENSG00000124006 OTTHUMG00000059157 uc010fwk.4 BC007201 NM_001173408 "CCDS63134|CCDS46520|CCDS54433" O75147 "9734811|17289344" MGI:2138628 RGD:1306073 610991 201543 HGNC:29092 "ENST00000404537.6|NM_015311.3" HGNC:29092 +HGNC:8100 OC90 otoconin 90 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 PLA2L 1999-01-19 2015-08-25 729330 ENSG00000253117 OTTHUMG00000164672 uc011lix.1 Z14310 NM_001080399 CCDS47919 Q02509 "10329003|9860971" MGI:1313269 RGD:1593441 601658 HGNC:8100 "ENST00000254627.4|NM_001080399.3" +HGNC:8101 OCA2 OCA2 melanosomal transmembrane protein protein-coding gene gene with protein product Approved 15q12-q13.1 15q12-q13.1 "BEY2|EYCL|BEY|BEY1" "melanocyte-specific transporter protein|P-protein" "D15S12|P|EYCL3|EYCL2" "eye color 3 (brown)|eye color 2 (central brown)|oculocutaneous albinism II (pink-eye dilution homolog, mouse)" 1993-02-05 2016-01-14 2021-05-26 4948 ENSG00000104044 OTTHUMG00000128871 uc001zbh.6 NM_000275 "CCDS73701|CCDS10020" Q04671 MGI:97454 RGD:2318412 "Mutations of the P-Gene|http://www.retina-international.org/files/sci-news/pgenemut.htm|Albinism Database|http://albinismdb.med.umn.edu/" 611409 123974 HGNC:8101 "ENST00000354638.8|NM_000275.3" HGNC:8101 +HGNC:26221 OCEL1 occludin/ELL domain containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 FLJ22709 2006-08-22 2020-04-01 79629 ENSG00000099330 OTTHUMG00000182726 uc002nfp.4 BC029361 NM_024578 CCDS12351 Q9H607 12477932 MGI:1924340 RGD:1565407 HGNC:26221 "ENST00000215061.9|NM_024578.3" +HGNC:16074 OCIAD1 OCIA domain containing 1 protein-coding gene gene with protein product Approved 4p11 04p11 "FLJ20455|TPA018|OCIA|Asrij" ovarian cancer immunoreactive antigen domain containing 1  2004-09-15 2018-02-12 54940 ENSG00000109180 OTTHUMG00000102095 uc003gyo.4 AF324350 NM_017830 "CCDS3484|CCDS47052|CCDS43228" Q9NX40 "11162530|18328549" MGI:1915345 RGD:1359549 619596 HGNC:16074 "ENST00000264312.12|NM_017830.4" +HGNC:40751 OCIAD1-AS1 OCIAD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p11 04p11 OCIAD1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-01 2012-08-15 2014-11-19 100861517 ENSG00000248256 OTTHUMG00000163197 uc062wmm.1 "AI018597|BG200457" NR_146806 OCIAD1-AS1 HGNC:40751 +HGNC:28685 OCIAD2 OCIA domain containing 2 protein-coding gene gene with protein product Approved 4p11 04p11 MGC45416 ovarian cancer immunoreactive antigen domain containing 2 2004-09-15 2018-02-12 132299 ENSG00000145247 OTTHUMG00000128626 uc003gyt.5 BC032808 NM_152398 "CCDS33981|CCDS3485" Q56VL3 17054434 MGI:1916377 RGD:2319541 619633 HGNC:28685 "ENST00000508632.6|NM_001014446.3" +HGNC:31827 OCIAD2P1 OCIA domain containing 2 pseudogene 1 pseudogene pseudogene Approved 8q21.13 08q21.13 OCIAD2 pseudogene 1 2004-09-15 2010-03-19 2020-04-20 100287085 NG_017000 PGOHUM00000249401 HGNC:31827 +HGNC:8104 OCLN occludin protein-coding gene gene with protein product Approved 5q13.2 05q13.2 PPP1R115 "tight junction protein occludin TM4 minus|phosphatase 1, regulatory subunit 115" "Protein phosphatase 1 regulatory subunits|Tetraspan junctional complex superfamily|MARVEL domain containing" "694|1471|1626" 1998-01-20 2021-05-26 100506658 ENSG00000197822 OTTHUMG00000099356 uc003jwu.3 U49184 NM_002538 "CCDS4006|CCDS54864" Q16625 8601611 MGI:106183 RGD:620089 602876 239959 HGNC:8104 "ENST00000396442.7|NM_001205254.2" HGNC:8104 +HGNC:53916 OCLNP1 OCLN pseudogene 1 pseudogene pseudogene Approved 5q13.2 05q13.2 2018-06-06 2018-06-06 647859 ENSG00000230847 OTTHUMG00000162521 NR_026578 PGOHUM00000300624 HGNC:53916 +HGNC:8105 OCM oncomodulin protein-coding gene gene with protein product Approved 7p22.1 07p22.1 OCM1 "oncomodulin 1|beta parvalbumin" EF-hand domain containing 863 1992-04-16 2020-04-21 654231 ENSG00000122543 OTTHUMG00000155499 uc064bff.1 BC069468 NM_001097622 CCDS43548 P0CE72 "1559707|8354278" MGI:97401 164795 HGNC:8105 "ENST00000242104.6|NM_001097622.2" +HGNC:34396 OCM2 oncomodulin 2 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 EF-hand domain containing 863 2008-10-30 2016-10-05 4951 ENSG00000135175 OTTHUMG00000154162 uc003upc.4 BC156841 NM_006188 CCDS5653 P0CE71 MGI:97401 RGD:3222 HGNC:34396 +HGNC:8108 OCRL OCRL inositol polyphosphate-5-phosphatase protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "OCRL1|Dent-2" Dent disease 2 oculocerebrorenal syndrome of Lowe Phosphoinositide phosphatases 1079 2001-06-22 2019-01-22 2021-05-26 4952 ENSG00000122126 OTTHUMG00000022706 uc004euq.4 U57627 NM_000276 "CCDS35394|CCDS35393" Q01968 MGI:109589 RGD:1594526 "Database of the OCRL1 Mutations Causing Lowe Syndrome|http://research.nhgri.nih.gov/lowe/|LOVD at NCBI|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=OCRL" 300535 123978 objectId:1460 3.1.3.36 HGNC:8108 "ENST00000371113.9|NM_000276.4" HGNC:8108 +HGNC:16116 OCSTAMP osteoclast stimulatory transmembrane protein protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ257E24.3 C20orf123 chromosome 20 open reading frame 123 2001-07-17 2012-03-27 2012-03-27 2018-11-15 128506 ENSG00000149635 OTTHUMG00000032652 uc010zxu.3 AL034424 NM_080721 CCDS54468 Q9BR26 18064667 MGI:1921864 RGD:1308620 HGNC:16116 "ENST00000279028.3|NM_080721.3" +HGNC:26560 ODAD1 outer dynein arm docking complex subunit 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ32926|CILD20" CCDC114 coiled-coil domain containing 114 Outer dynein arm docking complex subunits 2019 2006-06-21 2020-09-21 2020-09-21 2021-12-02 93233 ENSG00000105479 OTTHUMG00000156161 uc002pir.3 BC025752 NM_144577 CCDS12714 Q96M63 "23261302|23261303" MGI:2446120 RGD:1308141 615038 323398 HGNC:26560 "ENST00000674294.1|NM_001364171.2" HGNC:26560 +HGNC:25583 ODAD2 outer dynein arm docking complex subunit 2 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "FLJ10817|FLJ10376|DKFZP434P1735|CILD23|gudu" ARMC4 armadillo repeat containing 4 "Armadillo repeat containing|Outer dynein arm docking complex subunits" "409|2019" 2004-02-04 2020-09-21 2020-09-21 2021-12-02 55130 ENSG00000169126 OTTHUMG00000017867 uc001itz.3 AL136859 NM_018076 CCDS7157 Q5T2S8 "11230166|24055424" MGI:1922184 RGD:1306933 615408 360481 HGNC:25583 "ENST00000305242.10|NM_018076.5" HGNC:25583 +HGNC:44937 ODAD2P1 outer dynein arm docking complex subunit 2 pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 ARMC4P1 armadillo repeat containing 4 pseudogene 1 2012-12-19 2020-09-21 2020-09-21 2020-09-21 101060171 ENSG00000238021 OTTHUMG00000017856 NR_138082 PGOHUM00000290076 HGNC:44937 +HGNC:28303 ODAD3 outer dynein arm docking complex subunit 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC20983|ODA10" CCDC151 coiled-coil domain containing 151 Outer dynein arm docking complex subunits 2019 2008-04-10 2020-09-21 2020-09-21 2021-12-02 115948 ENSG00000198003 OTTHUMG00000182028 uc002mrs.5 NM_145045 "CCDS77237|CCDS42501" A5D8V7 24067530 MGI:1924859 RGD:1310048 615956 411117 HGNC:28303 "ENST00000356392.9|NM_145045.5" HGNC:28303 +HGNC:25280 ODAD4 outer dynein arm docking complex subunit 4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 DKFZP434H0115 TTC25 tetratricopeptide repeat domain 25 "Tetratricopeptide repeat domain containing|Outer dynein arm docking complex subunits" "769|2019" 2005-12-14 2020-09-21 2020-09-21 2021-12-02 83538 ENSG00000204815 OTTHUMG00000175837 uc032fin.2 AK055498 NM_031421 CCDS74063 Q96NG3 27486780 MGI:1921657 RGD:1311859 617095 464166 HGNC:25280 "ENST00000377540.6|NM_031421.5" HGNC:25280 +HGNC:26043 ODAM odontogenic, ameloblast associated protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "APin|FLJ20513" 2006-07-06 2017-08-04 2017-08-04 54959 ENSG00000109205 OTTHUMG00000129406 uc003hfc.4 AK000520 NM_017855 CCDS3536 A1E959 14647039 MGI:1916842 RGD:1561883 614843 HGNC:26043 "ENST00000683306.1|NM_017855.4" +HGNC:26300 ODAPH odontogenesis associated phosphoprotein protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "FLJ23657|AI2A4" amelogenesis imperfecta type IIA4 C4orf26 chromosome 4 open reading frame 26 2006-05-22 2017-08-09 2017-08-09 2021-05-26 152816 ENSG00000174792 OTTHUMG00000130104 uc003hip.3 AK074237 NM_178497 "CCDS56334|CCDS75142|CCDS3569" Q17RF5 "22901946|27558265" MGI:2685891 RGD:6489816 614829 310402 HGNC:26300 "ENST00000311623.9|NM_178497.5" HGNC:26300 +HGNC:8109 ODC1 ornithine decarboxylase 1 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 ODC Small nucleolar RNA protein coding host genes 1835 2001-06-22 2016-10-05 4953 ENSG00000115758 OTTHUMG00000090450 uc002rao.3 NM_001287188 CCDS1672 P11926 MGI:97402 RGD:3227 165640 470812 objectId:1276 4.1.1.17 HGNC:8109 "ENST00000234111.9|NM_002539.3" +HGNC:54070 ODC1-DT ODC1 divergent transcript non-coding RNA RNA, long non-coding Approved 2p25.1 02p25.1 lncRNA-MIF c-Myc inhibitory factor Divergent transcripts 1990 2018-10-24 2018-10-24 101929715 ENSG00000257135 NR_110597 27317567 HGNC:54070 +HGNC:8110 ODCP ornithine decarboxylase pseudogene pseudogene pseudogene Approved 7q32.1 07q32.1 ODC2 2001-06-22 2015-03-19 4954 ENSG00000244556 OTTHUMG00000158406 NG_023428 PGOHUM00000302931 HGNC:8110 +HGNC:8113 ODF1 outer dense fiber of sperm tails 1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "ODFPG|ODF27|RT7|HSPB10|CT133" cancer/testis antigen 133 outer dense fibre of sperm tails 1 Small heat shock proteins 585 1994-10-25 2002-10-21 2018-04-16 4956 ENSG00000155087 OTTHUMG00000164719 uc003ykt.3 M93131 NM_024410 CCDS6293 Q14990 8305202 MGI:97424 RGD:3228 182878 HGNC:8113 "ENST00000285402.4|NM_024410.4" +HGNC:8114 ODF2 outer dense fiber of sperm tails 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "ODF84|CT134" "cancer/testis antigen 134|cenexin" outer dense fibre of sperm tails 2 1998-07-03 2002-10-21 2016-10-05 4957 ENSG00000136811 OTTHUMG00000020748 uc064wes.1 AF012549 NM_001242352 "CCDS56589|CCDS56590|CCDS56587|CCDS56586|CCDS6902|CCDS56588|CCDS56585" Q5BJF6 "9045620|10072582" MGI:1098824 RGD:3229 602015 HGNC:8114 +HGNC:49461 ODF2-AS1 ODF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Antisense RNAs 1987 2013-12-06 2013-12-06 107080620 ENSG00000225951 OTTHUMG00000020745 AW303426 NR_170291 ODF2-AS1 +HGNC:29225 ODF2L outer dense fiber of sperm tails 2 like protein-coding gene gene with protein product Approved 1p22.3 01p22.3 KIAA1229 outer dense fiber of sperm tails 2-like MicroRNA protein coding host genes 1691 2005-08-17 2016-02-23 2016-04-25 57489 ENSG00000122417 OTTHUMG00000010080 uc001dlm.3 NM_001007022 "CCDS30763|CCDS53339|CCDS41354" Q9ULJ1 10574462 MGI:1098600 RGD:1593831 HGNC:29225 +HGNC:19905 ODF3 outer dense fiber of sperm tails 3 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "SHIPPO1|hSHIPPO|CT135" cancer/testis antigen 135 2002-12-09 2014-11-18 113746 ENSG00000177947 OTTHUMG00000119073 uc001lob.4 AB067774 NM_001286136 "CCDS65981|CCDS7688" Q96PU9 11870087 MGI:1916537 RGD:1310028 608356 HGNC:19905 "ENST00000325113.9|NM_053280.5" +HGNC:34388 ODF3B outer dense fiber of sperm tails 3B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 FAP123 2008-07-04 2020-01-27 440836 ENSG00000177989 OTTHUMG00000150334 uc003bmh.2 NM_001014440 CCDS43039 A8MYP8 MGI:1917363 RGD:1564322 HGNC:34388 "ENST00000329363.9|NM_001014440.4" +HGNC:28735 ODF3L1 outer dense fiber of sperm tails 3 like 1 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 MGC48986 2005-01-05 2016-05-16 2016-10-05 161753 ENSG00000182950 OTTHUMG00000142837 uc002bax.2 BC039862 NM_175881 CCDS10285 Q8IXM7 MGI:2681875 RGD:1304976 HGNC:28735 "ENST00000332145.3|NM_175881.5" +HGNC:26841 ODF3L2 outer dense fiber of sperm tails 3 like 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ40059 C19orf19 chromosome 19 open reading frame 19 2004-03-12 2008-07-04 2016-05-16 2020-04-01 284451 ENSG00000181781 OTTHUMG00000180547 uc002lor.3 AK097378 NM_182577 CCDS12027 Q3SX64 14702039 MGI:2686003 RGD:1310260 HGNC:26841 "ENST00000315489.5|NM_182577.3" +HGNC:19056 ODF4 outer dense fiber of sperm tails 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "OPPO1|CT136" cancer/testis antigen 136 2002-12-09 2016-10-05 146852 ENSG00000184650 OTTHUMG00000108190 uc002gle.2 AB081120 NM_001319953 "CCDS82069|CCDS11140" Q2M2E3 MGI:2182079 RGD:1359332 610097 HGNC:19056 "ENST00000328248.7|NM_153007.5" HGNC:19056 +HGNC:24299 ODR4 odr-4 GPCR localization factor homolog protein-coding gene gene with protein product Approved 1q31.1 01q31.1 "FLJ20505|odr-4|TTG1" "transactivated by recombinant transforming growth factor beta 1|LAG1-interacting protein" C1orf27 chromosome 1 open reading frame 27 2004-11-30 2017-10-17 2017-10-17 2017-10-17 54953 ENSG00000157181 OTTHUMG00000035579 uc057nzd.1 BC003397 NM_017847 "CCDS53448|CCDS53449|CCDS53450" Q5SWX8 "12868032|15718105|24603482" MGI:2385108 RGD:1307830 609335 HGNC:24299 "ENST00000287859.11|NM_017847.6" +HGNC:21017 OFCC1 orofacial cleft 1 candidate 1 other unknown Approved 6p24.3 06p24.3 "MRDS1|Opo" 2003-05-02 2019-12-17 266553 ENSG00000181355 OTTHUMG00000159104 uc063lsn.1 AF548113 NM_153003 Q8IZS5 15218257 MGI:2658851 RGD:1589812 614287 HGNC:21017 +HGNC:2567 OFD1 OFD1 centriole and centriolar satellite protein protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "71-7A|JBTS10" Joubert syndrome type 10 "CXorf5|RP23" "retinitis pigmentosa 23 (X-linked recessive)|oral-facial-digital syndrome 1" 1998-10-01 2019-01-22 2021-05-26 8481 ENSG00000046651 OTTHUMG00000021159 uc004cvp.5 Y15164 NM_003611 "CCDS83454|CCDS14157|CCDS83455" O75665 "9722947|9215688|22619378|20230748|21266464" MGI:1350328 RGD:1562231 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/OFD1 300170 123982 HGNC:2567 "ENST00000340096.11|NM_003611.3" HGNC:2567 +HGNC:23873 OFD1P1Y OFD1 pseudogene 1 Y-linked pseudogene pseudogene Approved Yq11.222 Yq11.222 "OFDYP1|OFD1P1" OFD1 pseudogene Y-linked 1 2004-05-24 2010-06-28 2018-04-30 2018-04-30 378009 ENSG00000226011 OTTHUMG00000041650 NG_003114 12815422 PGOHUM00000233974 HGNC:23873 +HGNC:23874 OFD1P2Y OFD1 pseudogene 2 Y-linked pseudogene pseudogene Approved Yq11.222 Yq11.222 "OFDYP2|OFD1P2|OFD1PY2" "OFD1 pseudogene Y-linked 2|OFD1 pseudogene 2|OFD1 pseudogene, Y-linked 2" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 378010 ENSG00000226611 OTTHUMG00000041948 NG_003115 12815422 PGOHUM00000233768 HGNC:23874 +HGNC:23875 OFD1P3Y OFD1 pseudogene 3 Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 "OFDYP3|OFD1P3|OFD1PY3|OFD1P19Y|OFD1P19|OFD1PY19" "OFD1 pseudogene Y-linked 3|OFD1 pseudogene 3|OFD1 pseudogene, Y-linked 3|OFD1 pseudogene 19, Y-linked|OFD1 pseudogene 19|OFD1 pseudogene, Y-linked 19" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386687 ENSG00000231988 OTTHUMG00000041410 NG_003116 12815422 PGOHUM00000233918 HGNC:23875 +HGNC:23876 OFD1P4Y OFD1 pseudogene 4 Y-linked pseudogene pseudogene Approved Yq11.222 Yq11.222 "OFDYP4|OFD1P4|OFD1PY4" "OFD1 pseudogene Y-linked 4|OFD1 pseudogene 4|OFD1 pseudogene, Y-linked 4" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386688 ENSG00000229406 OTTHUMG00000041975 NG_003117 12815422 PGOHUM00000233773 HGNC:23876 +HGNC:23877 OFD1P5Y OFD1 pseudogene 5 Y-linked pseudogene pseudogene Approved Yq11.222 Yq11.222 "OFDYP5|OFD1P5|OFD1PY5" "OFD1 pseudogene Y-linked 5|OFD1 pseudogene 5|OFD1 pseudogene, Y-linked 5" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386689 ENSG00000240438 OTTHUMG00000041982 NG_003118 12815422 PGOHUM00000233776 HGNC:23877 +HGNC:13657 OFD1P6Y OFD1 pseudogene 6 Y-linked pseudogene pseudogene Approved Yq11.222 Yq11.222 "OFD1P2|OFDYP6|OFD1P6|OFD1PY6" "OFD1 pseudogene 2|OFD1 pseudogene Y-linked 6|OFD1 pseudogene 6|OFD1 pseudogene, Y-linked 6" 2003-08-06 2010-06-28 2018-04-30 2018-04-30 386690 ENSG00000242153 OTTHUMG00000041945 NG_003119 12815422 PGOHUM00000233996 HGNC:13657 +HGNC:23879 OFD1P7Y OFD1 pseudogene 7 Y-linked pseudogene pseudogene Approved Yq11.222 Yq11.222 "OFDYP7|OFD1P7|OFD1PY7" "OFD1 pseudogene Y-linked 7|OFD1 pseudogene 7|OFD1 pseudogene, Y-linked 7" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386691 ENSG00000238088 OTTHUMG00000036507 NG_003120 12815422 PGOHUM00000233999 HGNC:23879 +HGNC:23880 OFD1P8Y OFD1 pseudogene 8 Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 "OFDYP8|OFD1P8|OFD1PY8" "OFD1 pseudogene Y-linked 8|OFD1 pseudogene 8|OFD1 pseudogene, Y-linked 8" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386692 ENSG00000231159 OTTHUMG00000043575 NG_003121 12815422 PGOHUM00000234019 HGNC:23880 +HGNC:23881 OFD1P9Y OFD1 pseudogene 9 Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 "OFDYP9|OFD1P9|OFD1PY9" "OFD1 pseudogene Y-linked 9|OFD1 pseudogene 9|OFD1 pseudogene, Y-linked 9" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386693 ENSG00000230476 OTTHUMG00000043852 NG_003122 12815422 PGOHUM00000233815 HGNC:23881 +HGNC:23882 OFD1P10Y OFD1 pseudogene 10 Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 "OFDYP10|OFD1P10|OFD1PY10" "OFD1 pseudogene Y-linked 10|OFD1 pseudogene 10|OFD1 pseudogene, Y-linked 10" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386694 ENSG00000225466 OTTHUMG00000044054 NG_003123 "12815422|8988172" PGOHUM00000234040 HGNC:23882 +HGNC:23883 OFD1P11Y OFD1 pseudogene 11 Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 "OFDYP11|OFD1P11|OFD1PY11" "OFD1 pseudogene Y-linked 11|OFD1 pseudogene 11|OFD1 pseudogene, Y-linked 11" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386695 ENSG00000237302 OTTHUMG00000044987 NG_003125 12815422 PGOHUM00000234045 HGNC:23883 +HGNC:23884 OFD1P12Y OFD1 pseudogene 12 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "OFDYP12|OFD1P12|OFD1PY12" "OFD1 pseudogene Y-linked 12|OFD1 pseudogene 12|OFD1 pseudogene, Y-linked 12" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386696 ENSG00000232585 OTTHUMG00000045044 NG_003126 12815422 PGOHUM00000234049 HGNC:23884 +HGNC:23885 OFD1P13Y OFD1 pseudogene 13 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "OFDYP13|OFD1P13|OFD1PY13" "OFD1 pseudogene Y-linked 13|OFD1 pseudogene 13|OFD1 pseudogene, Y-linked 13" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386697 ENSG00000225287 OTTHUMG00000045290 NG_003127 12815422 PGOHUM00000233873 HGNC:23885 +HGNC:23886 OFD1P14Y OFD1 pseudogene 14 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "OFDYP14|OFD1P14|OFD1PY14" "OFD1 pseudogene Y-linked 14|OFD1 pseudogene 14|OFD1 pseudogene, Y-linked 14" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386698 NG_003128 12815422 HGNC:23886 +HGNC:23887 OFD1P15Y OFD1 pseudogene 15 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 "OFDYP15|OFD1P15|OFD1PY15" "OFD1 pseudogene Y-linked 15|OFD1 pseudogene 15|OFD1 pseudogene, Y-linked 15" 2004-05-24 2010-06-28 2018-04-30 2018-04-30 386699 ENSG00000234888 OTTHUMG00000045278 NG_003129 12815422 PGOHUM00000233882 HGNC:23887 +HGNC:18213 OFD1P16Y OFD1 pseudogene 16 Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 "OFDYP16|OFD1P16|OFD1PY16" "OFD1 pseudogene Y-linked 16|OFD1 pseudogene 16|OFD1 pseudogene, Y-linked 16" 2004-12-13 2010-06-28 2018-04-30 2018-04-30 442485 ENSG00000277519 OTTHUMG00000188103 XM_498415 PGOHUM00000233803 HGNC:18213 +HGNC:1332 OFD1P17 OFD1 pseudogene 17 pseudogene pseudogene Approved 5p13.2 05p13.2 "71-7A3|71-7A5" "C5orf1|OFD1P1" oral-facial-digital syndrome 1, pseudogene 1 1998-10-01 2010-05-12 2010-05-12 2016-10-05 23738 ENSG00000228212 OTTHUMG00000162066 NG_003023 9722947 PGOHUM00000235564 HGNC:1332 +HGNC:2589 OFD1P18Y OFD1 pseudogene 18 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 71-7A2 "CYorf1|OFD1P18|OFD1PY18" "chromosome Y open reading frame 1|OFD1 pseudogene 18|OFD1 pseudogene, Y-linked 18" 1998-10-01 2010-06-28 2018-04-30 2018-04-30 10751 ENSG00000235511 OTTHUMG00000045289 L18173 NG_009011 9722947 PGOHUM00000233877 HGNC:2589 +HGNC:7056 OGA O-GlcNAcase protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "MEA5|NCOAT" nuclear cytoplasmic O-GlcNAcase and acetyltransferase MGEA5 meningioma expressed antigen 5 (hyaluronidase) Hexosaminidases 1642 1999-09-09 2018-04-09 2018-04-09 2018-04-09 10724 ENSG00000198408 OTTHUMG00000018939 uc001ktv.3 AF036144 NM_012215 "CCDS44471|CCDS7520" O60502 "9811929|16356930" MGI:1932139 RGD:621077 604039 objectId:3101 3.2.1.169 HGNC:7056 "ENST00000361464.8|NM_012215.5" +HGNC:8124 OGDH oxoglutarate dehydrogenase protein-coding gene gene with protein product Approved 7p13 07p13 "E1k|OGDC-E1|OGDH2|KGD1" oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) Oxoglutarate dehydrogenase family 1666 1989-06-30 2016-03-14 2020-05-12 4967 ENSG00000105953 OTTHUMG00000155304 uc003tln.4 D10523 NM_001003941 "CCDS34627|CCDS87498|CCDS55107|CCDS47580" Q02218 "8020988|1542694|24506869" MGI:1098267 RGD:1561359 613022 436832 1.2.4.2 HGNC:8124 "ENST00000222673.6|NM_002541.4" +HGNC:25590 OGDHL oxoglutarate dehydrogenase L protein-coding gene gene with protein product Approved 10q11.23 10q11.23 FLJ10851 oxoglutarate dehydrogenase like Oxoglutarate dehydrogenase family 1666 2004-05-27 2020-05-12 2020-05-12 55753 ENSG00000197444 OTTHUMG00000018200 uc001jie.4 AK001713 NM_018245 "CCDS7234|CCDS44390|CCDS44391" Q9ULD0 "10574462|18783430" MGI:3616088 RGD:1310916 617513 HGNC:25590 "ENST00000374103.9|NM_018245.3" +HGNC:25585 OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 protein-coding gene gene with protein product Approved 16q13 16q13 "KIAA1612|FLJ10826|TPA1" TPA1, termination and polyadenylation 1, homolog (S. cerevisiae) 2-oxoglutarate and iron-dependent oxygenase domain containing 1 2006-02-14 2016-03-10 2016-10-05 55239 ENSG00000087263 OTTHUMG00000133237 uc002ejb.4 BC032919 NM_018233 CCDS10761 Q8N543 10997877 MGI:2442978 RGD:1308848 615857 HGNC:25585 "ENST00000566157.6|NM_018233.4" +HGNC:39202 OGFOD1P1 2-oxoglutarate and iron dependent oxygenase domain containing 1 pseudogene 1 pseudogene pseudogene Approved 13q14.2 13q14.2 2-oxoglutarate and iron-dependent oxygenase domain containing 1 pseudogene 1 2010-11-23 2016-03-10 2016-03-10 387924 ENSG00000231665 OTTHUMG00000016910 NG_011397 PGOHUM00000248397 HGNC:39202 +HGNC:25823 OGFOD2 2-oxoglutarate and iron dependent oxygenase domain containing 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ13491|FLJ37501" 2-oxoglutarate and iron-dependent oxygenase domain containing 2 2006-02-14 2016-03-10 2016-03-10 79676 ENSG00000111325 OTTHUMG00000168778 uc001uea.2 AK094820 NM_024623 "CCDS76617|CCDS41855|CCDS76618" Q6N063 12477932 MGI:1913877 RGD:1310594 HGNC:25823 +HGNC:26174 OGFOD3 2-oxoglutarate and iron dependent oxygenase domain containing 3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ22222 C17orf101 "chromosome 17 open reading frame 101|2-oxoglutarate and iron-dependent oxygenase domain containing 3" 2008-11-27 2012-10-23 2016-03-10 2016-11-16 79701 ENSG00000181396 OTTHUMG00000178679 uc002keu.3 BC023602 NM_175902 "CCDS11811|CCDS11812" Q6PK18 12477932 MGI:1913429 RGD:1305007 HGNC:26174 "ENST00000313056.10|NM_024648.3" +HGNC:15768 OGFR opioid growth factor receptor protein-coding gene gene with protein product Approved 20q13.33 20q13.33 7-60 2001-05-31 2016-10-05 11054 ENSG00000060491 OTTHUMG00000032937 uc002ydj.4 AF109134 NM_007346 CCDS13504 Q9NZT2 "10677613|26687326" MGI:1919325 RGD:69324 606459 HGNC:15768 "ENST00000290291.10|NM_007346.4" +HGNC:40724 OGFR-AS1 OGFR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 OGFR antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2014-11-19 101409261 ENSG00000229873 OTTHUMG00000032933 uc031rum.2 "BQ187924|CA412981" NR_102430 OGFR-AS1 HGNC:40724 +HGNC:21378 OGFRL1 opioid growth factor receptor like 1 protein-coding gene gene with protein product Approved 6q13 06q13 dJ331H24.1 2003-06-11 2016-07-01 2016-07-01 79627 ENSG00000119900 OTTHUMG00000015000 uc003pfx.2 NM_024576 CCDS34482 Q5TC84 MGI:1917405 RGD:1308498 HGNC:21378 "ENST00000370435.5|NM_024576.5" +HGNC:50511 OGFRP1 opioid growth factor receptor pseudogene 1 pseudogene pseudogene Approved 22q13.2 22q13.2 2014-05-15 2018-10-10 388906 ENSG00000182057 OTTHUMG00000150700 NR_036498 30274775 PGOHUM00000246597 HGNC:50511 +HGNC:8125 OGG1 8-oxoguanine DNA glycosylase protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "HMMH|HOGG1|OGH1|MUTM" "8-hydroxyguanine DNA glycosylase|OGG1 type 1e|OGG1 type 1d|OGG1 type 1g|OGG1 type 1h" DNA glycosylases 1024 1997-07-22 2016-10-05 4968 ENSG00000114026 OTTHUMG00000097091 uc003bsj.4 U96710 NM_016821 "CCDS2581|CCDS2580|CCDS2579|CCDS2578|CCDS43046|CCDS2577|CCDS2576|CCDS46742" O15527 "9207108|10449904" MGI:1097693 RGD:621168 601982 objectId:3060 "3.2.2.-|4.2.99.18" HGNC:8125 "ENST00000344629.12|NM_002542.6" +HGNC:8126 OGN osteoglycin protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "mimecan|OIF|SLRR3A" mimecan proteoglycan osteoglycin (osteoinductive factor) Small leucine rich repeat proteoglycans 573 1997-10-31 2007-02-16 2016-10-05 4969 ENSG00000106809 OTTHUMG00000020224 uc004asa.4 AI424992 NM_024416 CCDS6695 P20774 2372374 MGI:109278 RGD:1308171 602383 HGNC:8126 "ENST00000375561.10|NM_014057.5" +HGNC:8127 OGT O-linked N-acetylglucosamine (GlcNAc) transferase protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "O-GLCNAC|HRNT1|MGC22921|FLJ23071|OGT1" UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) "O-linked N-acetylglucosaminyltransferases|Tetratricopeptide repeat domain containing|NSL histone acetyltransferase complex" "446|769|1482" 1998-12-03 2012-05-04 2020-04-02 8473 ENSG00000147162 OTTHUMG00000033316 uc004eaa.3 U77413 "NM_003605|NM_181672" "CCDS14414|CCDS35502" O15294 9083068 MGI:1339639 RGD:62060 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/OGT 300255 2.4.1.255 HGNC:8127 "ENST00000373719.8|NM_181672.3" HGNC:8127 +HGNC:20300 OIP5 Opa interacting protein 5 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "MIS18B|hMIS18beta|CT86" "MIS18 kinetochore protein homolog B (S. pombe)|cancer/testis antigen 86" 2005-01-12 2016-10-05 11339 ENSG00000104147 OTTHUMG00000130251 uc001znp.3 AF025441 NM_007280 CCDS10074 O43482 "9466265|17199038" MGI:1917895 RGD:1564263 606020 HGNC:20300 "ENST00000220514.8|NM_007280.2" +HGNC:43563 OIP5-AS1 OIP5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 "cyrano|linc-OIP5" OIP5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-07 2012-08-15 2017-02-15 729082 ENSG00000247556 OTTHUMG00000172547 uc001zno.4 NR_026757 "22196729|28189759" RGD:6496122 cyrano OIP5-AS1 HGNC:43563 +HGNC:29953 OIT3 oncoprotein induced transcript 3 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "LZP|FLJ39116" liver-specific ZP domain-containing protein 2004-04-21 2017-03-07 170392 ENSG00000138315 OTTHUMG00000018444 uc001jte.2 NM_152635 CCDS7318 Q8WWZ8 "12975309|12939600" MGI:1201782 RGD:735082 609330 HGNC:29953 "ENST00000334011.10|NM_152635.3" +HGNC:28833 OLA1 Obg like ATPase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 PTD004 GTPBP9 GTP-binding protein 9 (putative) 2006-08-08 2007-07-27 2016-08-11 2016-08-11 29789 ENSG00000138430 OTTHUMG00000132335 uc002uih.4 NM_013341 "CCDS42779|CCDS2255" Q9NTK5 "17430889|24486488" MGI:1914309 RGD:1307982 611175 HGNC:28833 "ENST00000284719.8|NM_013341.5" +HGNC:45274 OLA1P1 OLA1 pseudogene 1 pseudogene pseudogene Approved 22q13.2 22q13.2 Obg-like ATPase 1 pseudogene 1 2013-03-18 2019-02-18 2019-02-18 246785 ENSG00000213790 OTTHUMG00000151284 NG_001589 PGOHUM00000297547 HGNC:45274 +HGNC:45277 OLA1P2 OLA1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 Obg-like ATPase 1 pseudogene 2 2013-03-18 2019-02-18 2019-02-18 106479059 ENSG00000213671 OTTHUMG00000059555 NG_044570 26898989 PGOHUM00000294329 HGNC:45277 +HGNC:45278 OLA1P3 OLA1 pseudogene 3 pseudogene pseudogene Approved 12q13.2 12q13.2 Obg-like ATPase 1 pseudogene 3 2013-03-18 2019-02-18 2019-02-18 101060020 ENSG00000257966 OTTHUMG00000170206 PGOHUM00000239474 HGNC:45278 +HGNC:25625 OLAH oleoyl-ACP hydrolase protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ11106|SAST" "oleoyl-acyl-carrier-protein hydrolase|S-acyl fatty acid synthase thioesterase, medium chain" THEDC1 thioesterase domain containing 1 2004-05-27 2006-07-07 2006-07-07 2016-02-23 55301 ENSG00000152463 OTTHUMG00000017724 uc001inu.2 AK001844 NM_018324 "CCDS31152|CCDS7106" Q9NV23 MGI:2139018 RGD:621115 3.1.2.14 HGNC:25625 "ENST00000378228.8|NM_001039702.3" +HGNC:17187 OLFM1 olfactomedin 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NOE1|OlfA|AMY|NOELIN" "pancortin|noelin" 2001-12-12 2016-07-22 10439 ENSG00000130558 OTTHUMG00000020897 uc010nar.5 AF035301 NM_014279 "CCDS6987|CCDS65184|CCDS65183|CCDS6986" Q99784 9039501 MGI:1860437 RGD:620320 605366 HGNC:17187 "ENST00000371793.8|NM_001282611.2" +HGNC:17189 OLFM2 olfactomedin 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "OlfC|NOE2" noelin 2 2002-01-11 2019-08-20 93145 ENSG00000105088 OTTHUMG00000180390 uc002mmp.4 AF131839 NM_001304347 "CCDS12221|CCDS77230" O95897 MGI:3045350 RGD:1309741 617492 HGNC:17189 "ENST00000264833.9|NM_058164.4" +HGNC:17990 OLFM3 olfactomedin 3 protein-coding gene gene with protein product Approved 1p21.1 01p21.1 NOE3 optimedin 2002-01-11 2016-10-05 118427 ENSG00000118733 OTTHUMG00000010941 uc001dug.4 AF397392 NM_001288821 "CCDS72832|CCDS30781" Q96PB7 "12019210|16115881" MGI:2387329 RGD:628672 607567 HGNC:17990 "ENST00000370103.9|NM_058170.4" +HGNC:17190 OLFM4 olfactomedin 4 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "OlfD|GW112|GC1" 2004-06-25 2016-10-05 10562 ENSG00000102837 OTTHUMG00000016981 uc001vhl.4 AY358567 NM_006418 CCDS9440 Q6UX06 MGI:2685142 RGD:1311708 614061 HGNC:17190 "ENST00000219022.3|NM_006418.5" +HGNC:51927 OLFM5P olfactomedin family member 5, pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 2015-10-09 2015-10-09 101927763 ENSG00000224295 OTTHUMG00000066889 NR_133006 MGI:2443346 PGOHUM00000290375 HGNC:51927 +HGNC:24473 OLFML1 olfactomedin like 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 UNQ564 olfactomedin-like 1 2004-06-25 2015-11-11 2016-10-05 283298 ENSG00000183801 OTTHUMG00000165527 uc001mfi.4 AY358591 NM_198474 CCDS7779 Q6UWY5 MGI:2679264 RGD:1311854 HGNC:24473 "ENST00000329293.4|NM_198474.4" +HGNC:27270 OLFML2A olfactomedin like 2A protein-coding gene gene with protein product Approved 9q33.3 09q33.3 FLJ00237 olfactomedin-like 2A 2004-04-29 2015-11-11 2019-02-26 169611 ENSG00000185585 OTTHUMG00000020663 uc004bov.5 AK092255 NM_182487 "CCDS65129|CCDS6857" Q68BL7 27821182 MGI:2444741 RGD:1311651 615899 HGNC:27270 "ENST00000373580.8|NM_182487.4" +HGNC:24558 OLFML2B olfactomedin like 2B protein-coding gene gene with protein product Approved 1q23.3 01q23.3 DKFZP586L151 olfactomedin-like 2B 2004-04-29 2015-11-11 2016-10-05 25903 ENSG00000162745 OTTHUMG00000024047 uc001gbu.3 BX648975 NM_015441 "CCDS72966|CCDS1236" Q68BL8 MGI:2443310 RGD:1309257 HGNC:24558 "ENST00000294794.8|NM_015441.3" +HGNC:24956 OLFML3 olfactomedin like 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "HNOEL-iso|OLF44" olfactomedin-like 3 2004-05-10 2015-11-11 2016-10-05 56944 ENSG00000116774 OTTHUMG00000011980 uc001eer.3 AF201945 NM_020190 "CCDS72839|CCDS870|CCDS65618" Q9NRN5 MGI:1914877 RGD:1311106 610088 HGNC:24956 "ENST00000320334.5|NM_020190.5" +HGNC:16983 OLIG1 oligodendrocyte transcription factor 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "BHLHB6|bHLHe21" "oligodendrocyte-specific bHLH transcription factor 1|oligodendrocyte lineage transcription factor 1|basic domain, helix-loop-helix protein, class B, 6" Basic helix-loop-helix proteins 420 2001-12-04 2016-04-25 116448 ENSG00000184221 OTTHUMG00000065064 uc002yqz.4 AP000109 NM_138983 CCDS42920 Q8TAK6 11526205 MGI:1355334 RGD:621129 606385 HGNC:16983 "ENST00000382348.2|NM_138983.3" +HGNC:9398 OLIG2 oligodendrocyte transcription factor 2 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "RACK17|OLIGO2|bHLHe19" "oligodendrocyte-specific bHLH transcription factor 2|protein kinase C binding protein 2|human protein kinase C-binding protein RACK17|basic domain, helix-loop-helix protein, class B, 1" "PRKCBP2|BHLHB1" "protein kinase C binding protein 2|oligodendrocyte lineage transcription factor 2" Basic helix-loop-helix proteins 420 1999-10-19 2001-12-07 2017-01-11 2017-01-11 10215 ENSG00000205927 OTTHUMG00000065032 uc002yqx.3 U48250 NM_005806 CCDS13620 Q13516 "11526205|23165259" MGI:1355331 RGD:1307098 OLIG2 606386 HGNC:9398 "ENST00000382357.4|NM_005806.4" +HGNC:18003 OLIG3 oligodendrocyte transcription factor 3 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "Bhlhb7|bHLHe20" Basic helix-loop-helix proteins 420 2003-05-20 2014-11-19 167826 ENSG00000177468 OTTHUMG00000015657 uc003qhp.2 AK096362 NM_175747 CCDS5186 Q7RTU3 MGI:2149955 RGD:1305997 609323 HGNC:18003 "ENST00000367734.4|NM_175747.2" +HGNC:28060 OLMALINC oligodendrocyte maturation-associated long intergenic non-coding RNA non-coding RNA RNA, long non-coding Approved 10q24.31 10q24.31 "bA34D15.5|FLJ12974|HI-LNC80" "Human Islet Long Non Coding RNA 80|oligodendrocyte maturation-associated long intervening non-coding RNA" "C10orf75|NCRNA00263|LINC00263" "chromosome 10 open reading frame 75|non-protein coding RNA 263|long intergenic non-protein coding RNA 263" Long non-coding RNAs with non-systematic symbols 1992 2004-02-17 2015-01-12 2015-01-12 2018-09-07 90271 ENSG00000235823 OTTHUMG00000018909 BC045787 NR_026762 "23040067|25575711|27980086" 616240 OLMALINC HGNC:28060 +HGNC:8133 OLR1 oxidized low density lipoprotein receptor 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "LOX-1|SCARE1|CLEC8A" oxidised low density lipoprotein (lectin-like) receptor 1 "Scavenger receptors|C-type lectin domain containing" "1253|1298" 1998-01-16 2016-03-10 2016-10-05 4973 ENSG00000173391 OTTHUMG00000168527 uc001qxo.2 D89050 NM_002543 "CCDS53745|CCDS53746|CCDS8618" P78380 9763655 MGI:1261434 RGD:620515 602601 HGNC:8133 "ENST00000309539.8|NM_002543.4" +HGNC:29661 OMA1 OMA1 zinc metallopeptidase protein-coding gene gene with protein product Approved 1p32.2-p32.1 01p32.2-p32.1 "MPRP-1|YKR087C|ZMPOMA1|FLJ33782" "overlapping activity with M-AAA protease|zinc metallopeptidase OMA1" OMA1 zinc metallopeptidase homolog (S. cerevisiae) M48 metallopeptidase family 2105 2004-11-16 2013-05-03 2019-02-26 115209 ENSG00000162600 OTTHUMG00000010068 uc001cyy.4 AK091101 NM_145243 CCDS608 Q96E52 "12963738|20038677" MGI:1914263 RGD:1304821 617081 HGNC:29661 "ENST00000371226.8|NM_145243.5" +HGNC:8134 OMD osteomodulin protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "osteoadherin|SLRR2C" osteoadherin proteoglycan Small leucine rich repeat proteoglycans 573 1997-11-11 2014-11-18 4958 ENSG00000127083 OTTHUMG00000020225 uc004asd.5 AB000114 NM_005014 CCDS6696 Q99983 MGI:1350918 RGD:621818 618926 HGNC:8134 "ENST00000375550.5|NM_005014.3" +HGNC:8135 OMG oligodendrocyte myelin glycoprotein protein-coding gene gene with protein product Approved 17q11.2 17q11.2 OMGP 1991-06-05 2016-10-05 4974 ENSG00000126861 OTTHUMG00000132870 uc002hgj.4 NM_002544 CCDS11265 P23515 "1899288|2277079" MGI:106586 RGD:1359125 164345 HGNC:8135 "ENST00000247271.5|NM_002544.5" +HGNC:8136 OMP olfactory marker protein protein-coding gene gene with protein product Approved 11q13.5 11q13.5 1992-12-14 2016-01-15 4975 ENSG00000254550 OTTHUMG00000165193 uc010rsk.2 U01212 NM_006189 CCDS53682 P47874 8499899 MGI:97436 RGD:3231 164340 HGNC:8136 "ENST00000529803.1|NM_006189.1" +HGNC:8138 ONECUT1 one cut homeobox 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 HNF-6 "HNF6|HNF6A" one cut domain, family member 1 CUT class homeoboxes and pseudogenes 527 2000-02-11 2007-07-16 2015-08-25 3175 ENSG00000169856 OTTHUMG00000131899 uc002aci.3 U77975 NM_004498 CCDS10150 Q9UBC0 "8887657|8790352" MGI:1196423 RGD:2811 604164 8476 HGNC:8138 "ENST00000305901.7|NM_004498.4" +HGNC:8139 ONECUT2 one cut homeobox 2 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 OC-2 one cut domain, family member 2 CUT class homeoboxes and pseudogenes 527 2000-02-11 2007-07-16 2015-08-25 9480 ENSG00000119547 OTTHUMG00000159776 uc002lgo.4 Y18198 NM_004852 CCDS42440 O95948 9915796 MGI:1891408 RGD:1564677 604894 8477 HGNC:8139 "ENST00000491143.3|NM_004852.3" +HGNC:13399 ONECUT3 one cut homeobox 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 one cut domain, family member 3 CUT class homeoboxes and pseudogenes 527 2001-06-25 2007-07-16 2020-04-01 390874 ENSG00000205922 OTTHUMG00000172429 uc010xgr.3 AC004755 NM_001080488 CCDS45900 O60422 9915796 MGI:1891409 RGD:1591005 611294 8542 HGNC:13399 "ENST00000382349.5|NM_001080488.2" +HGNC:21382 OOEP oocyte expressed protein protein-coding gene gene with protein product Approved 6q13 06q13 "Em:AC019205.2|KHDC2" KH homology domain containing 2 C6orf156 "chromosome 6 open reading frame 156|oocyte expressed protein homolog (dog)" Subcortical maternal complex 1684 2003-11-26 2007-11-13 2012-02-22 2014-11-19 441161 ENSG00000203907 OTTHUMG00000150057 uc003pgu.5 BC024931 NM_001080507 CCDS47451 A6NGQ2 17913455 MGI:1915218 RGD:1311103 611689 HGNC:21382 "ENST00000370359.6|NM_001080507.3" +HGNC:39192 OOEP-AS1 OOEP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q13 06q13 OOEP-AS "OOEP antisense RNA (non-protein coding)|OOEP antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-11-18 2010-11-25 2012-08-15 2012-10-12 106478938 ENSG00000231332 OTTHUMG00000015022 uc063pnx.1 NR_174946 OOEP-AS1 HGNC:39192 +HGNC:54933 OOEPP1 OOEP pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-29 2020-04-29 117751733 ENSG00000270759 NG_070702 +HGNC:54934 OOEPP2 OOEP pseudogene 2 pseudogene pseudogene Approved 12q14.2 12q14.2 2020-04-29 2020-04-29 117751741 ENSG00000256192 NG_070683 +HGNC:49233 OOSP1 oocyte secreted protein 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 oocyte secreted protein 1 (pseudogene) OOSP family 1631 2013-10-14 2018-05-18 2021-10-06 255649 ENSG00000284873 OTTHUMG00000187492 "AB231701|AB231702" NM_001395276 A8MZH6 11747200 MGI:2149290 RGD:1590944 HGNC:49233 +HGNC:49240 OOSP1P1 oocyte secreted protein 1 pseudogene 1 pseudogene pseudogene Approved 1p34.1 01p34.1 2013-10-14 2017-09-29 106480251 ENSG00000238037 OTTHUMG00000007491 NG_043888 PGOHUM00000243994 HGNC:49240 +HGNC:49241 OOSP1P2 oocyte secreted protein 1 pseudogene 2 pseudogene pseudogene Approved 17q11.2 17q11.2 2013-10-14 2017-09-29 106480252 ENSG00000263749 OTTHUMG00000179586 NG_043896 PGOHUM00000237027 HGNC:49241 +HGNC:26699 OOSP2 oocyte secreted protein 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "FLJ36198|OOSP2A" "TMEM122|PLAC1L" "transmembrane protein 122|placenta-specific 1-like" OOSP family 1631 2006-02-02 2013-10-14 2013-10-14 2018-06-07 219990 ENSG00000149507 OTTHUMG00000167379 AK093517 NM_173801 CCDS7979 Q86WS3 12477932 MGI:2684945 RGD:1590948 HGNC:26699 "ENST00000278855.7|NM_173801.5" +HGNC:53903 OOSP3 oocyte secreted protein family member 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OOSP family 1631 2018-05-18 2021-06-22 112577461 ENSG00000285231 NM_001395255 A0A2R8YFM6 HGNC:53903 +HGNC:53904 OOSP4A oocyte secreted protein family member 4A protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OOSP family 1631 2018-05-18 2021-06-22 112577462 ENSG00000285010 NM_001395277 A0A2R8YFL7 +HGNC:53905 OOSP4B oocyte secreted protein family member 4B protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OOSP family 1631 2018-05-18 2018-05-18 107987155 ENSG00000255393 OTTHUMG00000167378 NM_001395278 A0A2R8Y4Y8 HGNC:53905 +HGNC:8140 OPA1 OPA1 mitochondrial dynamin like GTPase protein-coding gene gene with protein product Approved 3q29 03q29 "NTG|KIAA0567|FLJ12460|NPG|MGM1" "mitochondrial dynamin-like GTPase|dynamin-like guanosine triphosphatase|Dynamin-like 120 kDa protein, mitochondrial" "optic atrophy 1 (autosomal dominant)|OPA1, mitochondrial dynamin like GTPase" 1987-09-11 2019-01-25 2021-04-13 4976 ENSG00000198836 OTTHUMG00000149897 uc003fti.3 AB011139 NM_130837 "CCDS87183|CCDS43186|CCDS33917" O60313 9490303 MGI:1921393 RGD:708423 "Mutations of the Optic Atrophy 1 Gene|http://www.retina-international.org/files/sci-news/opa1mut.htm|LRG_337|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_337.xml" 605290 123996 HGNC:8140 "ENST00000361510.8|NM_130837.3" HGNC:8140 +HGNC:40421 OPA1-AS1 OPA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 OPA1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 100873941 ENSG00000224855 OTTHUMG00000156072 uc031scv.2 NR_046634 OPA1-AS1 HGNC:40421 +HGNC:8142 OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "FLJ22187|MGA3" 3-methylglutaconic aciduria type III "optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)|OPA3, outer mitochondrial membrane lipid metabolism regulator" 1999-03-12 2019-04-08 2021-05-26 80207 ENSG00000125741 OTTHUMG00000182125 uc002pck.5 AK025840 NM_001017989 "CCDS33052|CCDS12668" Q9H6K4 "9097959|11668429" MGI:2686271 RGD:1309147 606580 124003 HGNC:8142 "ENST00000263275.5|NM_025136.4" HGNC:8142 +HGNC:20707 OPALIN oligodendrocytic myelin paranodal and inner loop protein protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "TMP10|HTMP10" TMEM10 transmembrane protein 10 2003-05-07 2008-05-01 2008-05-01 2016-10-05 93377 ENSG00000197430 OTTHUMG00000018831 uc001kmj.5 AF367761 NM_033207 "CCDS41556|CCDS44466|CCDS73173|CCDS60602|CCDS7448|CCDS73172" Q96PE5 "11814680|17442045" MGI:2657025 RGD:1307776 617200 HGNC:20707 "ENST00000371172.8|NM_033207.5" +HGNC:8143 OPCML opioid binding protein/cell adhesion molecule like protein-coding gene gene with protein product Approved 11q25 11q25 "OPCM|OBCAM|IGLON1" IgLON family member 1 "I-set domain containing|IgLON cell adhesion molecules" "593|1052" 1993-12-13 2016-06-17 2016-06-17 4978 ENSG00000183715 OTTHUMG00000163658 uc001qgs.4 BX537377 NM_001012393 "CCDS31722|CCDS8492|CCDS81649" Q14982 8244387 MGI:97397 RGD:620635 600632 HGNC:8143 "ENST00000524381.6|NM_001012393.5" +HGNC:41366 OPCML-IT1 OPCML intronic transcript 1 non-coding RNA RNA, long non-coding Approved 11q25 11q25 OPCML intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874333 ENSG00000254896 OTTHUMG00000167118 uc058jfz.1 NR_046790 OPCML-IT1 +HGNC:41365 OPCML-IT2 OPCML intronic transcript 2 non-coding RNA RNA, long non-coding Approved 11q25 11q25 OPCML intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874332 ENSG00000255371 OTTHUMG00000167116 uc058jfw.1 OPCML-IT2 +HGNC:8148 OPHN1 oligophrenin 1 protein-coding gene gene with protein product Approved Xq12 Xq12 "OPN1|ARHGAP41" MRX60 mental retardation, X-linked 60 AH/BAR family Rho GTPase activating proteins 1923 1998-05-12 2021-05-26 4983 ENSG00000079482 OTTHUMG00000021744 uc004dww.5 AJ001189 NM_002547 CCDS14388 O60890 "9195162|9582072" MGI:2151070 RGD:1563435 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/OPHN1 300127 159936 HGNC:8148 "ENST00000355520.6|NM_002547.3" HGNC:8148 +HGNC:8149 OPLAH 5-oxoprolinase, ATP-hydrolysing protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "OPLA|5-Opase" MicroRNA protein coding host genes 1691 1999-12-10 2017-08-08 2017-08-08 26873 ENSG00000178814 OTTHUMG00000165435 uc033cce.2 "AF024672|AB122018" NM_017570 CCDS75802 O14841 14993790 MGI:1922725 RGD:620956 614243 297456 3.5.2.9 HGNC:8149 "ENST00000618853.5|NM_017570.5" HGNC:8149 +HGNC:9936 OPN1LW opsin 1, long wave sensitive protein-coding gene gene with protein product Approved Xq28 Xq28 COD5 cone dystrophy 5 (X-linked) "CBBM|RCP|CBP" "color blindness, protan|red cone photoreceptor pigment|opsin 1 (cone pigments), long-wave-sensitive" Opsin receptors 215 2001-06-22 2017-01-17 2017-01-17 5956 ENSG00000102076 OTTHUMG00000034295 uc033fax.1 Z68193 NM_020061 CCDS14742 P04000 MGI:1097692 Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)|http://www.retina-international.org/files/sci-news/cppmut.htm 300822 124007 objectId:2961 HGNC:9936 "ENST00000369951.9|NM_020061.6" HGNC:9936 +HGNC:4206 OPN1MW opsin 1, medium wave sensitive protein-coding gene gene with protein product Approved Xq28 Xq28 "OPN1MW1|COD5" cone dystrophy 5 (X-linked) "GCP|CBBM|CBD" "color blindness, deutan|green cone photoreceptor pigment|opsin 1 (cone pigments), medium-wave-sensitive" Opsin receptors 215 2001-06-22 2017-01-17 2017-01-17 2652 ENSG00000268221 OTTHUMG00000022652 uc004fkb.4 K03494 NM_000513 CCDS14743 P04001 RGD:620978 Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)|http://www.retina-international.org/files/sci-news/cppmut.htm 300821 124012 objectId:2962 HGNC:4206 "ENST00000595290.6|NM_000513.2" HGNC:4206 +HGNC:26952 OPN1MW2 opsin 1, medium wave sensitive 2 protein-coding gene gene with protein product Approved Xq28 Xq28 opsin 1 (cone pigments), medium-wave-sensitive 2 Opsin receptors 215 2005-09-20 2017-01-17 2017-01-17 728458 ENSG00000166160 OTTHUMG00000024231 uc004fkd.4 NM_001048181 CCDS35447 P0DN77 MGI:1097692 HGNC:26952 "ENST00000369929.8|NM_001048181.3" +HGNC:51831 OPN1MW3 opsin 1, medium wave sensitive 3 protein-coding gene gene with protein product Approved Xq28 Xq28 opsin 1 (cone pigments), medium-wave-sensitive 3 Opsin receptors 215 2015-07-24 2017-01-17 2017-01-17 101060233 ENSG00000269433 OTTHUMG00000189499 NM_001330067 CCDS83509 P0DN78 MGI:1097692 HGNC:51831 +HGNC:1012 OPN1SW opsin 1, short wave sensitive protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "BOP|CBT" "color blindness, tritan|blue-sensitive opsin" BCP "blue cone photoreceptor pigment|opsin 1 (cone pigments), short-wave-sensitive" Opsin receptors 215 2001-06-22 2017-01-17 2017-01-17 611 ENSG00000128617 OTTHUMG00000158311 uc003vnt.5 U53874 NM_001708 CCDS5806 P03999 "2937147|8270261" MGI:99438 RGD:621033 Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP)|http://www.retina-international.org/files/sci-news/cppmut.htm 613522 124018 objectId:2960 HGNC:1012 "ENST00000249389.3|NM_001385125.1" HGNC:1012 +HGNC:14007 OPN3 opsin 3 protein-coding gene gene with protein product Approved 1q43 01q43 "ERO|NMO-1|encephalopsin|PPP1R116" "panopsin|protein phosphatase 1, regulatory subunit 116" ECPN encephalopsin "Opsin receptors|Protein phosphatase 1 regulatory subunits" "215|694" 2000-11-24 2008-04-16 2014-11-19 23596 ENSG00000054277 OTTHUMG00000039691 uc001hza.4 AF140242 NM_014322 CCDS31072 Q9H1Y3 "10234000|11401433" MGI:1338022 RGD:1594385 606695 objectId:160 HGNC:14007 "ENST00000366554.3|NM_014322.3" +HGNC:14449 OPN4 opsin 4 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "MOP|melanopsin" melanopsin opsin 4 (melanopsin) Opsin receptors 215 2001-08-07 2008-04-16 2016-10-05 94233 ENSG00000122375 OTTHUMG00000018654 uc001kdq.4 AF147788 NM_033282 "CCDS7376|CCDS31237" Q9UHM6 10632589 MGI:1353425 RGD:621701 606665 objectId:2758 HGNC:14449 "ENST00000241891.10|NM_033282.4" +HGNC:19992 OPN5 opsin 5 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "neuropsin|dJ402H5.1" neuropsin TMEM13 transmembrane protein 13 Opsin receptors 215 2003-11-26 2004-01-23 2014-11-19 221391 ENSG00000124818 OTTHUMG00000014803 uc003ozc.4 AY288419 NM_181744 CCDS4923 Q6U736 "14623103|14623098" MGI:2662912 RGD:727869 609042 objectId:161 HGNC:19992 +HGNC:8153 OPRD1 opioid receptor delta 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 opioid receptor, delta 1 Opioid receptors 245 1993-03-11 2016-03-31 2016-10-05 4985 ENSG00000116329 OTTHUMG00000003646 uc001brf.2 U10504 NM_000911 CCDS329 P41143 8415697 MGI:97438 RGD:3233 165195 objectId:317 HGNC:8153 "ENST00000234961.7|NM_000911.4" +HGNC:8154 OPRK1 opioid receptor kappa 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "KOR|OPRK" opioid receptor, kappa 1 Opioid receptors 245 1993-03-11 2016-03-31 2016-10-05 4986 ENSG00000082556 OTTHUMG00000164276 uc003xri.3 NM_000912 "CCDS6152|CCDS64895" P41145 8188308 MGI:97439 RGD:69426 165196 objectId:318 HGNC:8154 "ENST00000265572.8|NM_000912.5" +HGNC:8155 OPRL1 opioid related nociceptin receptor 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "NOCIR|ORL1|OOR|KOR-3|NOPr|PNOCR" "LC132 receptor-like|orphanin FQ receptor|kappa3-related opioid receptor|nociceptin/orphanin FQ receptor" opiate receptor-like 1 Opioid receptors 245 1996-05-28 2016-03-31 2021-04-21 4987 ENSG00000125510 OTTHUMG00000033027 uc002yic.4 NM_182647 CCDS13556 P41146 "8137918|17910740" MGI:97440 RGD:68438 602548 objectId:320 HGNC:8155 "ENST00000336866.7|NM_182647.4" +HGNC:8156 OPRM1 opioid receptor mu 1 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 MOR1 opioid receptor, mu 1 Opioid receptors 245 1993-03-11 2016-03-31 2021-04-13 4988 ENSG00000112038 OTTHUMG00000015870 uc063skb.1 L29301 NM_000914 "CCDS55071|CCDS55069|CCDS55070|CCDS43517|CCDS47505|CCDS47504|CCDS47506|CCDS47507|CCDS47503|CCDS47508|CCDS55068|CCDS43518" P35372 MGI:97441 RGD:3234 LRG_1007|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1007.xml 600018 objectId:319 HGNC:8156 "ENST00000330432.12|NM_000914.5" +HGNC:17279 OPRPN opiorphin prepropeptide protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "BPLP|PRL1" PROL1 "proline rich 1|proline rich, lacrimal 1" 2001-12-04 2016-03-08 2016-03-08 2016-03-08 58503 ENSG00000171199 OTTHUMG00000160845 uc003hfi.4 S83198 NM_021225 CCDS43235 Q99935 "8670737|17101991" MGI:88232 RGD:620983 608936 HGNC:17279 "ENST00000399575.7|NM_021225.5" +HGNC:8158 OPTC opticin protein-coding gene gene with protein product Approved 1q32.1 01q32.1 oculoglycan 2000-02-16 2016-10-05 26254 ENSG00000188770 OTTHUMG00000036100 uc001gzu.2 AF161702 NM_014359 CCDS1439 Q9UBM4 10636917 MGI:2151113 RGD:1304916 605127 HGNC:8158 "ENST00000367222.7|NM_014359.4" +HGNC:17142 OPTN optineurin protein-coding gene gene with protein product Approved 10p13 10p13 "FIP2|HYPL|FIP-2|TFIIIA-INTP|NRP|HIP7" GLC1E glaucoma 1, open angle, E (adult-onset) 2001-11-16 2003-09-08 2016-10-05 10133 ENSG00000123240 OTTHUMG00000017690 uc001ilx.2 AF420371 NM_021980 CCDS7094 Q96CV9 "11834836|9488477" MGI:1918898 RGD:628886 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602432 124021 HGNC:17142 "ENST00000378747.8|NM_001008212.2" HGNC:17142 +HGNC:8179 OR1A1 olfactory receptor family 1 subfamily A member 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OR17-7 "olfactory receptor, family 1, subfamily A, member 1|olfactory receptor family 1 subfamily A member 1 (gene/pseudogene)" Olfactory receptors, family 1 147 1998-09-14 2020-05-01 2020-05-01 8383 ENSG00000172146 OTTHUMG00000090637 uc010vrc.2 AF087918 NM_014565 CCDS11022 Q9P1Q5 10673334 "MGI:1333770|MGI:3030237" RGD:1332685 618046 OR1A1 HGNC:8179 "ENST00000641732.2|NM_014565.3" +HGNC:8180 OR1A2 olfactory receptor family 1 subfamily A member 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OR17-6 olfactory receptor, family 1, subfamily A, member 2 Olfactory receptors, family 1 147 1999-11-16 2015-12-09 2015-12-09 26189 ENSG00000172150 OTTHUMG00000090638 uc002fvd.1 AF155225 NM_012352 CCDS11021 Q9Y585 10673334 "MGI:1333770|MGI:3030237" RGD:1334436 618047 OR1A2 HGNC:8180 "ENST00000381951.1|NM_012352.3" +HGNC:14750 OR1AA1P olfactory receptor family 1 subfamily AA member 1 pseudogene pseudogene pseudogene Approved Xq26.2 Xq26.2 olfactory receptor, family 1, subfamily AA, member 1 pseudogene Olfactory receptors, family 1 147 2001-02-28 2015-12-09 2015-12-09 79312 ENSG00000234288 OTTHUMG00000022408 NG_021190 PGOHUM00000242013 OR1AA1P HGNC:14750 +HGNC:15390 OR1AB1P olfactory receptor family 1 subfamily AB member 1 pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 olfactory receptor, family 1, subfamily AB, member 1 pseudogene Olfactory receptors, family 1 147 2001-03-28 2015-12-09 2015-12-09 81090 ENSG00000267450 OTTHUMG00000182236 AC008894 NG_004627 PGOHUM00000234533 OR1AB1P HGNC:15390 +HGNC:31243 OR1AC1P olfactory receptor family 1 subfamily AC member 1 pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 olfactory receptor, family 1, subfamily AC, member 1 pseudogene Olfactory receptors, family 1 147 2004-02-26 2015-12-09 2017-10-30 403231 ENSG00000267129 OTTHUMG00000179846 NG_005819 HGNC:31243 +HGNC:8181 OR1B1 olfactory receptor family 1 subfamily B member 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 OR9-B "olfactory receptor, family 1, subfamily B, member 1 (gene/pseudogene)|olfactory receptor family 1 subfamily B member 1 (gene/pseudogene)" Olfactory receptors, family 1 147 1999-12-09 2020-05-01 2020-05-01 347169 ENSG00000280094 OTTHUMG00000020616 uc011lyz.2 AC006313 NM_001004450 Q8NGR6 MGI:3030196 RGD:1333333 OR1B1 HGNC:8181 +HGNC:8182 OR1C1 olfactory receptor family 1 subfamily C member 1 protein-coding gene gene with protein product Approved 1q44 01q44 "TPCR27|HSTPCR27" olfactory receptor, family 1, subfamily C, member 1 Olfactory receptors, family 1 147 1999-11-16 2015-12-09 2015-12-09 26188 ENSG00000221888 OTTHUMG00000040198 uc010pza.2 X89674 NM_012353 CCDS41481 Q15619 9119360 OR1C1 HGNC:8182 "ENST00000641256.1|NM_012353.3" +HGNC:8183 OR1D2 olfactory receptor family 1 subfamily D member 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OR17-4 OLFR1 olfactory receptor, family 1, subfamily D, member 2 Olfactory receptors, family 1 147 1992-12-04 2015-12-09 2015-12-09 4991 ENSG00000184166 OTTHUMG00000090619 uc010vrb.2 U04678 NM_002548 CCDS11019 P34982 "1370859|1840504" MGI:3030246 RGD:1333845 164342 OR1D2 HGNC:8183 "ENST00000641833.1|NM_002548.3" +HGNC:8184 OR1D3P olfactory receptor family 1 subfamily D member 3 pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 "OR17-23|OR11-13|OR11-22" "OR1D6P|OR1D7P" olfactory receptor, family 1, subfamily D, member 3 pseudogene Olfactory receptors, family 1 147 1998-09-14 2015-12-09 2017-10-30 8384 ENSG00000262106 OTTHUMG00000177805 U04679 NG_002298 "8004088|10673334" PGOHUM00000294242 OR1D3P HGNC:8184 +HGNC:8185 OR1D4 olfactory receptor family 1 subfamily D member 4 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OR17-30 "olfactory receptor, family 1, subfamily D, member 4|olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)|olfactory receptor family 1 subfamily D member 4 (gene/pseudogene)" Olfactory receptors, family 1 147 1998-09-14 2020-05-01 2020-05-01 653166 ENSG00000255095 OTTHUMG00000166844 U04681 NM_003552 P47884 "8004088|10673334" PGOHUM00000259201 OR1D4 HGNC:8185 +HGNC:8186 OR1D5 olfactory receptor family 1 subfamily D member 5 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OR17-31 olfactory receptor, family 1, subfamily D, member 5 Olfactory receptors, family 1 147 1998-09-14 2015-12-09 2015-12-09 8386 ENSG00000262628 OTTHUMG00000177676 uc021tns.1 AF087923 NM_014566 CCDS58499 P58170 10673334 MGI:3030246 OR1D5 HGNC:8186 "ENST00000575751.1|NM_014566.1" +HGNC:8189 OR1E1 olfactory receptor family 1 subfamily E member 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "OR17-2|HGM071|OR17-32|OR13-66" "OR1E9P|OR1E5|OR1E6" olfactory receptor, family 1, subfamily E, member 1 Olfactory receptors, family 1 147 1998-09-14 2015-12-09 2015-12-09 8387 ENSG00000180016 OTTHUMG00000090643 uc002fvj.2 U04642 NM_003553 CCDS11024 P30953 "8004088|1370859" MGI:109315 OR1E1 HGNC:8189 "ENST00000322608.2|NM_003553.3" +HGNC:8190 OR1E2 olfactory receptor family 1 subfamily E member 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "OR17-93|OR17-135" OR1E4 olfactory receptor, family 1, subfamily E, member 2 Olfactory receptors, family 1 147 1998-09-14 2015-12-09 2016-10-05 8388 ENSG00000127780 OTTHUMG00000090651 uc010vre.2 U04686 NM_003554 CCDS11026 P47887 "8004088|9500546" "MGI:102698|MGI:109312|MGI:3030210|MGI:3030212|MGI:3030214|MGI:3030215|MGI:3030216|MGI:3030218|MGI:3030219|MGI:3030223|MGI:3030224|MGI:3030225|MGI:3030226|MGI:3030227|MGI:3030228|MGI:3030229" RGD:1333253 OR1E2 HGNC:8190 "ENST00000248384.1|NM_003554.2" +HGNC:8191 OR1E3 olfactory receptor family 1 subfamily E member 3 (gene/pseudogene) protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OR17-210 OR1E3P "olfactory receptor, family 1, subfamily E, member 3 pseudogene|olfactory receptor, family 1, subfamily E, member 3 (gene/pseudogene)|olfactory receptor family 1 subfamily E member 3" Olfactory receptors, family 1 147 1998-09-14 2008-06-11 2021-10-11 2021-10-11 8389 ENSG00000142163 OTTHUMG00000177823 U04690 NG_002151 Q8WZA6 "8004088|10673334" "MGI:102698|MGI:109312|MGI:109315|MGI:3030210|MGI:3030212|MGI:3030214|MGI:3030215|MGI:3030216|MGI:3030218|MGI:3030219|MGI:3030223|MGI:3030224|MGI:3030226|MGI:3030227|MGI:3030228|MGI:3030229" PGOHUM00000294240 OR1E3P HGNC:8191 +HGNC:8194 OR1F1 olfactory receptor family 1 subfamily F member 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Olfmf|OR16-36|OR16-37|OR16-88|OR16-89|OR16-90|OLFMF|OR3-145" "OR1F4|OR1F6|OR1F7|OR1F8|OR1F9|OR1F5|OR1F10|OR1F13P" "olfactory receptor, family 1, subfamily F, member 1|olfactory receptor family 1 subfamily F member 1 (gene/pseudogene)" Olfactory receptors, family 1 147 1998-01-23 2020-05-01 2020-05-01 4992 ENSG00000168124 OTTHUMG00000133153 uc010uwu.3 Y14442 NM_001370639 CCDS10496 O43749 "9288094|9500546" MGI:3032605 RGD:1334086 603232 OR1F1 HGNC:8194 +HGNC:8196 OR1F2P olfactory receptor family 1 subfamily F member 2 pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 OLFMF2 "OR1F3P|OR1F2" "olfactory receptor, family 1, subfamily F, member 2|olfactory receptor, family 1, subfamily F, member 2, pseudogene" Olfactory receptors, family 1 147 1999-11-16 2007-11-28 2015-12-09 2015-12-09 26184 ENSG00000203581 OTTHUMG00000177554 AJ003145 NR_002169 Q96R84 9653642 MGI:3032605 RGD:1332671 PGOHUM00000293692 OR1F2P HGNC:8196 +HGNC:13964 OR1F12P olfactory receptor family 1 subfamily F member 12, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "hs6M1-35P|OR1F12Q" OR1F12 "olfactory receptor, family 1, subfamily F, member 12 pseudogene|olfactory receptor, family 1, subfamily F, member 12|olfactory receptor family 1 subfamily F member 12" Olfactory receptors, family 1 147 2001-03-05 2021-11-18 2021-11-18 2021-11-18 442179 ENSG00000220721 OTTHUMG00000014506 NG_004691 Q8NHA8 MGI:3031200 OR1F12 HGNC:13964 +HGNC:8204 OR1G1 olfactory receptor family 1 subfamily G member 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OR17-209 OR1G2 olfactory receptor, family 1, subfamily G, member 1 Olfactory receptors, family 1 147 1998-09-14 2015-12-09 2015-12-09 8390 ENSG00000183024 OTTHUMG00000090618 uc002fvc.2 U04689 NM_003555 CCDS11020 P47890 "8004088|9500546" RGD:1333596 OR1G1 HGNC:8204 "ENST00000328890.3|NM_003555.1" +HGNC:8206 OR1H1P olfactory receptor family 1 subfamily H member 1 pseudogene pseudogene pseudogene Approved 9q33.2 09q33.2 OST26 OR1H1 olfactory receptor, family 1, subfamily H, member 1 pseudogene Olfactory receptors, family 1 147 1999-12-09 2015-12-09 2015-12-09 26742 ENSG00000228914 OTTHUMG00000020613 NG_004138 PGOHUM00000236765 OR1H1P HGNC:8206 +HGNC:8207 OR1I1 olfactory receptor family 1 subfamily I member 1 protein-coding gene gene with protein product Approved 19p13.1 19p13.1 "OR1I1P|OR19-20|OR1I1Q" olfactory receptor, family 1, subfamily I, member 1 Olfactory receptors, family 1 147 2000-06-19 2015-12-09 2020-04-01 126370 ENSG00000094661 OTTHUMG00000183206 uc010xoe.3 AC004794 NM_001004713 CCDS32937 O60431 MGI:3031191 RGD:1334246 OR1I1 HGNC:8207 "ENST00000641398.1|NM_001004713.2" +HGNC:8208 OR1J1 olfactory receptor family 1 subfamily J member 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 hg32 olfactory receptor, family 1, subfamily J, member 1 Olfactory receptors, family 1 147 1999-12-09 2015-12-09 2015-12-09 347168 ENSG00000136834 OTTHUMG00000020603 uc011lyu.2 AL353767 NM_001004451 CCDS35120 Q8NGS3 MGI:102697 RGD:1332682 OR1J1 HGNC:8208 "ENST00000259357.3|NM_001004451.1" +HGNC:8209 OR1J2 olfactory receptor family 1 subfamily J member 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 OST044 "OR1J3|OR1J5" olfactory receptor, family 1, subfamily J, member 2 Olfactory receptors, family 1 147 1999-12-09 2015-12-09 2015-12-09 26740 ENSG00000197233 OTTHUMG00000020604 uc011lyv.2 NM_054107 CCDS35121 Q8NGS2 RGD:1333882 OR1J2 HGNC:8209 "ENST00000335302.5|NM_054107.1" +HGNC:8211 OR1J4 olfactory receptor family 1 subfamily J member 4 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "HTPCRX01|HSHTPCRX01" olfactory receptor, family 1, subfamily J, member 4 Olfactory receptors, family 1 147 1999-11-17 2015-12-09 2015-12-09 26219 ENSG00000239590 OTTHUMG00000020606 uc011lyw.2 X64979 NM_001004452 CCDS35122 Q8NGS1 1370859 MGI:3030184 RGD:1333082 OR1J4 HGNC:8211 "ENST00000340750.1|NM_001004452.1" +HGNC:8212 OR1K1 olfactory receptor family 1 subfamily K member 1 protein-coding gene gene with protein product Approved 9q33 09q33 "hg99|MNAB" olfactory receptor, family 1, subfamily K, member 1 Olfactory receptors, family 1 147 1999-12-09 2015-12-09 2015-12-09 392392 ENSG00000165204 OTTHUMG00000020625 uc011lze.2 AL359512 NM_080859 CCDS35132 Q8NGR3 RGD:1333846 OR1K1 HGNC:8212 "ENST00000277309.3|NM_080859.1" +HGNC:8213 OR1L1 olfactory receptor family 1 subfamily L member 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 OR9-C OR1L2 olfactory receptor, family 1, subfamily L, member 1 Olfactory receptors, family 1 147 1999-12-09 2015-12-09 2016-04-25 26737 ENSG00000173679 OTTHUMG00000020618 uc022bmz.1 NM_001005236 CCDS35127 Q8NH94 OR1L1 HGNC:8213 "ENST00000309623.1|NM_001005236.3" +HGNC:8215 OR1L3 olfactory receptor family 1 subfamily L member 3 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 OR9-D olfactory receptor, family 1, subfamily L, member 3 Olfactory receptors, family 1 147 1999-12-09 2015-12-09 2015-12-09 26735 ENSG00000171481 OTTHUMG00000020619 uc011lzb.2 NM_001005234 CCDS35128 Q8NH93 OR1L3 HGNC:8215 "ENST00000304820.5|NM_001005234.1" +HGNC:8216 OR1L4 olfactory receptor family 1 subfamily L member 4 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 OR9-E OR1L5 olfactory receptor, family 1, subfamily L, member 4 Olfactory receptors, family 1 147 1999-12-09 2015-12-09 2015-12-09 254973 ENSG00000136939 OTTHUMG00000020620 uc004bmu.1 NM_001005235 CCDS35129 Q8NGR5 "MGI:3030198|MGI:3030199" RGD:1332825 OR1L4 HGNC:8216 "ENST00000259466.1|NM_001005235.1" +HGNC:8218 OR1L6 olfactory receptor family 1 subfamily L member 6 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 OR1L7 olfactory receptor, family 1, subfamily L, member 6 Olfactory receptors, family 1 147 1999-12-09 2015-12-09 2016-04-25 392390 ENSG00000171459 OTTHUMG00000020621 uc022bna.1 NM_001004453 CCDS35130 Q8NGR2 MGI:3030199 RGD:1332944 OR1L6 HGNC:8218 "ENST00000304720.3|NM_001004453.3" +HGNC:15110 OR1L8 olfactory receptor family 1 subfamily L member 8 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 olfactory receptor, family 1, subfamily L, member 8 Olfactory receptors, family 1 147 2001-03-28 2015-12-09 2015-12-09 138881 ENSG00000171496 OTTHUMG00000020609 uc004bmp.1 NM_001004454 CCDS35124 Q8NGR8 MGI:3030189 RGD:1333496 OR1L8 HGNC:15110 "ENST00000641027.1|NM_001004454.2" +HGNC:8220 OR1M1 olfactory receptor family 1 subfamily M member 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 OR19-6 olfactory receptor, family 1, subfamily M, member 1 Olfactory receptors, family 1 147 1999-12-09 2015-12-09 2015-12-09 125963 ENSG00000170929 OTTHUMG00000179930 uc010xkj.3 NM_001004456 CCDS32896 Q8NGA1 MGI:109311 RGD:1333021 OR1M1 HGNC:8220 "ENST00000641627.1|NM_001004456.2" +HGNC:31244 OR1M4P olfactory receptor family 1 subfamily M member 4 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 olfactory receptor, family 1, subfamily M, member 4 pseudogene Olfactory receptors, family 1 147 2004-02-26 2015-12-09 2016-11-09 403232 ENSG00000267154 OTTHUMG00000179929 NG_004407 PGOHUM00000294863 OR1M4P HGNC:31244 +HGNC:8221 OR1N1 olfactory receptor family 1 subfamily N member 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 OR1-26 OR1N3 olfactory receptor, family 1, subfamily N, member 1 Olfactory receptors, family 1 147 1999-11-17 2015-12-09 2016-10-05 138883 ENSG00000171505 OTTHUMG00000020608 uc004bmn.1 U86216 NM_012363 CCDS6844 Q8NGS0 9500546 "MGI:3030185|MGI:3030187" RGD:621629 OR1N1 HGNC:8221 "ENST00000304880.2|NM_012363.1" +HGNC:15111 OR1N2 olfactory receptor family 1 subfamily N member 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 olfactory receptor, family 1, subfamily N, member 2 Olfactory receptors, family 1 147 2001-03-28 2015-12-09 2015-12-09 138882 ENSG00000171501 OTTHUMG00000020607 uc064vnb.1 NM_001004457 CCDS35123 Q8NGR9 MGI:3030188 RGD:1333103 OR1N2 HGNC:15111 "ENST00000373688.3|NM_001004457.2" +HGNC:8222 OR1P1 olfactory receptor family 1 subfamily P member 1 (gene/pseudogene) protein-coding gene gene with protein product Approved 17p13.3 17p13.3 OR17-208 OR1P1P "olfactory receptor, family 1, subfamily P, member 1 pseudogene|olfactory receptor, family 1, subfamily P, member 1 (gene/pseudogene)" Olfactory receptors, family 1 147 1998-09-14 2008-06-11 2015-12-09 2015-12-09 8391 ENSG00000262085 OTTHUMG00000177731 AF087927 NG_002153 Q8NH06 10673334 MGI:3030240 RGD:1332804 OR1P1P HGNC:8222 +HGNC:8223 OR1Q1 olfactory receptor family 1 subfamily Q member 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "OST226|OR9-A|HSTPCR106|OST226OR9-A|TPCR106" "OR1Q2|OR1Q3" olfactory receptor, family 1, subfamily Q, member 1 Olfactory receptors, family 1 147 1999-12-09 2015-12-09 2015-12-09 158131 ENSG00000165202 OTTHUMG00000020615 uc011lyy.2 NM_012364 CCDS35125 Q15612 MGI:3030191 RGD:1333656 OR1Q1 HGNC:8223 "ENST00000297913.3|NM_012364.1" +HGNC:55113 OR1Q1BP olfactory receptor family 1 subfamily Q member 1B pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 Olfactory receptors, family 1 147 2020-07-17 2020-07-17 118568817 ENSG00000285491 32126975 PGOHUM00000293114 +HGNC:8226 OR1R1P olfactory receptor family 1 subfamily R member 1 pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 OR17-1 "OR20A1P|OR1R2P|OR1R3P" olfactory receptor, family 1, subfamily R, member 1 pseudogene Olfactory receptors, family 1 147 1998-09-14 2015-12-09 2020-02-07 9596 ENSG00000180042 OTTHUMG00000177732 NM_001396056 10673334 PGOHUM00000294245 OR1R1P HGNC:8226 +HGNC:8227 OR1S1 olfactory receptor family 1 subfamily S member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OST034 "olfactory receptor, family 1, subfamily S, member 1 (gene/pseudogene)|olfactory receptor family 1 subfamily S member 1 (gene/pseudogene)" Olfactory receptors, family 1 147 1999-12-09 2020-05-01 2020-05-01 219959 ENSG00000280204 OTTHUMG00000167463 uc010rkc.2 BK004299 NM_001004458 Q8NH92 MGI:3031330 RGD:1333888 OR1S1 HGNC:8227 +HGNC:15141 OR1S2 olfactory receptor family 1 subfamily S member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 1, subfamily S, member 2 Olfactory receptors, family 1 147 2001-03-28 2015-12-09 2015-12-09 219958 ENSG00000197887 OTTHUMG00000167541 uc010rkb.3 BK004297 NM_001004459 CCDS31545 Q8NGQ3 MGI:3031330 OR1S2 HGNC:15141 +HGNC:15062 OR1X1P olfactory receptor family 1 subfamily X member 1 pseudogene pseudogene pseudogene Approved 5q35.2 05q35.2 olfactory receptor, family 1, subfamily X, member 1 pseudogene Olfactory receptors, family 1 147 2001-03-28 2015-12-09 2015-12-09 402236 ENSG00000272494 OTTHUMG00000185807 AC008454 NG_004630 PGOHUM00000235843 OR1X1P HGNC:15062 +HGNC:31245 OR1X5P olfactory receptor family 1 subfamily X member 5 pseudogene pseudogene pseudogene Approved 5q35.3 05q35.3 olfactory receptor, family 1, subfamily X, member 5 pseudogene Olfactory receptors, family 1 147 2004-02-26 2015-12-09 2015-12-09 402240 ENSG00000214351 OTTHUMG00000154337 NG_004631 PGOHUM00000235471 OR1X5P HGNC:31245 +HGNC:8229 OR2A1 olfactory receptor family 2 subfamily A member 1 protein-coding gene gene with protein product Approved 7q35 07q35 olfactory receptor, family 2, subfamily A, member 1 Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 346528 ENSG00000221970 OTTHUMG00000158005 uc011kud.2 NM_001005287 CCDS43673 Q8NGT9 RGD:1332872 OR2A1 HGNC:8229 "ENST00000641044.2|NM_001005287.2" +HGNC:49168 OR2A1-AS1 OR2A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q35 07q35 Antisense RNAs 1987 2013-09-20 2013-09-20 101928492 ENSG00000244479 OTTHUMG00000158050 BC040701 NR_126023 OR2A1-AS1 HGNC:49168 +HGNC:8230 OR2A2 olfactory receptor family 2 subfamily A member 2 protein-coding gene gene with protein product Approved 7q35 07q35 OST008 "OR2A2P|OR2A17P" olfactory receptor, family 2, subfamily A, member 2 Olfactory receptors, family 2 149 1999-12-09 2004-03-10 2015-12-09 2020-04-20 442361 ENSG00000221989 OTTHUMG00000158001 uc011ktz.3 NM_001005480 CCDS43671 Q6IF42 MGI:3030271 RGD:1587195 OR2A2 HGNC:8230 "ENST00000408979.3|NM_001005480.2" +HGNC:8231 OR2A3P olfactory receptor family 2 subfamily A member 3 pseudogene pseudogene pseudogene Approved 7q35 07q35 olfactory receptor, family 2, subfamily A, member 3 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 202861 ENSG00000183122 OTTHUMG00000158011 NG_004292 PGOHUM00000233625 OR2A3P HGNC:8231 +HGNC:14729 OR2A4 olfactory receptor family 2 subfamily A member 4 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 OR2A10 "olfactory receptor, family 2, subfamily A, member 10|olfactory receptor, family 2, subfamily A, member 4" Olfactory receptors, family 2 149 2001-02-28 2015-12-09 2016-10-05 79541 ENSG00000180658 OTTHUMG00000016316 uc011ecd.2 AC005587 NM_030908 CCDS5149 O95047 MGI:104812 OR2A4 HGNC:14729 "ENST00000315453.4|NM_030908.2" +HGNC:8232 OR2A5 olfactory receptor family 2 subfamily A member 5 protein-coding gene gene with protein product Approved 7q35 07q35 "OR7-138|OR7-141" "OR2A8|OR2A26" olfactory receptor, family 2, subfamily A, member 5 Olfactory receptors, family 2 149 1999-11-17 2015-12-09 2015-12-09 393046 ENSG00000221836 OTTHUMG00000158006 uc011ktw.3 U86278 NM_012365 CCDS43668 Q96R48 9500546 MGI:3030282 RGD:1334415 OR2A5 HGNC:8232 "ENST00000641693.1|NM_012365.2" +HGNC:8234 OR2A7 olfactory receptor family 2 subfamily A member 7 protein-coding gene gene with protein product Approved 7q35 07q35 HSDJ0798C17 olfactory receptor, family 2, subfamily A, member 7 Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 401427 ENSG00000243896 OTTHUMG00000158002 uc011kuc.3 NM_001005328 CCDS55177 Q96R45 MGI:104812 RGD:1334209 OR2A7 HGNC:8234 "ENST00000641841.1|NM_001005328.2" +HGNC:8236 OR2A9P olfactory receptor family 2 subfamily A member 9 pseudogene pseudogene pseudogene Approved 7q35 07q35 HSDJ0798C17 OR2A9 olfactory receptor, family 2, subfamily A, member 9 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 441295 ENSG00000228960 OTTHUMG00000157998 NR_002157 PGOHUM00000250975 OR2A9P HGNC:8236 +HGNC:15082 OR2A12 olfactory receptor family 2 subfamily A member 12 protein-coding gene gene with protein product Approved 7q35 07q35 OR2A12P "olfactory receptor, family 2, subfamily A, member 12 pseudogene|olfactory receptor, family 2, subfamily A, member 12" Olfactory receptors, family 2 149 2001-03-28 2002-11-13 2015-12-09 2015-12-09 346525 ENSG00000221858 OTTHUMG00000157996 uc011kty.3 NM_001004135 CCDS43670 Q8NGT7 MGI:3030280 OR2A12 HGNC:15082 "ENST00000641592.1|NM_001004135.2" +HGNC:15083 OR2A13P olfactory receptor family 2 subfamily A member 13 pseudogene pseudogene pseudogene Approved 7q35 07q35 olfactory receptor, family 2, subfamily A, member 13 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2017-10-30 392140 ENSG00000273234 OTTHUMG00000154312 NG_004375 PGOHUM00000302997 OR2A13P HGNC:15083 +HGNC:15084 OR2A14 olfactory receptor family 2 subfamily A member 14 protein-coding gene gene with protein product Approved 7q35 07q35 OST182 "OR2A14P|OR2A6" olfactory receptor, family 2, subfamily A, member 14 Olfactory receptors, family 2 149 2001-03-28 2004-03-08 2015-12-09 2015-12-09 135941 ENSG00000221938 OTTHUMG00000158003 uc011kua.3 NM_001001659 CCDS43672 Q96R47 MGI:3030071 RGD:1333098 OR2A14 HGNC:15084 "ENST00000641068.1|NM_001001659.3" +HGNC:15085 OR2A15P olfactory receptor family 2 subfamily A member 15 pseudogene pseudogene pseudogene Approved 7q35 07q35 OR2A28P olfactory receptor, family 2, subfamily A, member 15 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 135942 ENSG00000239981 OTTHUMG00000157999 NG_004290 PGOHUM00000233058 OR2A15P HGNC:15085 +HGNC:15413 OR2A20P olfactory receptor family 2 subfamily A member 20 pseudogene pseudogene pseudogene Approved 7q35 07q35 OR2A20 olfactory receptor, family 2, subfamily A, member 20 pseudogene Olfactory receptors, family 2 149 2001-03-28 2004-03-10 2015-12-09 2018-02-06 401428 ENSG00000170356 OTTHUMG00000158000 AI084964 NR_002158 OR2A20P HGNC:15413 +HGNC:19562 OR2A25 olfactory receptor family 2 subfamily A member 25 protein-coding gene gene with protein product Approved 7q35 07q35 "OR2A25P|OR2A27" olfactory receptor, family 2, subfamily A, member 25 Olfactory receptors, family 2 149 2002-11-04 2004-03-10 2015-12-09 2015-12-09 392138 ENSG00000221933 OTTHUMG00000158013 uc011ktx.3 NM_001004488 CCDS43669 A4D2G3 MGI:3030281 RGD:1332716 OR2A25 HGNC:19562 "ENST00000641663.1|NM_001386096.1" +HGNC:31246 OR2A41P olfactory receptor family 2 subfamily A member 41 pseudogene pseudogene pseudogene Approved 7q35 07q35 olfactory receptor, family 2, subfamily A, member 41 pseudogene Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 403234 ENSG00000239967 OTTHUMG00000158014 NG_004408 OR2A41P HGNC:31246 +HGNC:31230 OR2A42 olfactory receptor family 2 subfamily A member 42 protein-coding gene gene with protein product Approved 7q35 07q35 olfactory receptor, family 2, subfamily A, member 42 Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 402317 ENSG00000212807 OTTHUMG00000157995 uc011kub.2 NM_001001802 CCDS56515 Q8NGT9 "MGI:1333821|MGI:3030268|MGI:3030269" OR2A42 HGNC:31230 "ENST00000641810.1|NM_001001802.3" +HGNC:14749 OR2AD1P olfactory receptor family 2 subfamily AD member 1 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "OR2AD1|hs6M1-8P" olfactory receptor, family 2, subfamily AD, member 1 pseudogene Olfactory receptors, family 2 149 2001-02-28 2015-12-09 2017-10-30 79313 ENSG00000223677 OTTHUMG00000031262 Z84476 NG_002239 PGOHUM00000301296 OR2AD1P HGNC:14749 +HGNC:15087 OR2AE1 olfactory receptor family 2 subfamily AE member 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 OR2AE2 "olfactory receptor, family 2, subfamily AE, member 2|olfactory receptor, family 2, subfamily AE, member 1" Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81392 ENSG00000244623 OTTHUMG00000156650 uc003usc.2 AC011904 NM_001005276 CCDS34696 Q8NHA4 OR2AE1 HGNC:15087 "ENST00000316368.3|NM_001005276.1" +HGNC:14719 OR2AF1P olfactory receptor family 2 subfamily AF member 1 pseudogene pseudogene pseudogene Approved Xq26.2 Xq26.2 OR2AF2P olfactory receptor, family 2, subfamily AF, member 1 pseudogene Olfactory receptors, family 2 149 2001-02-28 2015-12-09 2015-12-09 79331 ENSG00000235730 OTTHUMG00000022414 NG_002257 PGOHUM00000242016 OR2AF1P HGNC:14719 +HGNC:15142 OR2AG1 olfactory receptor family 2 subfamily AG member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR2AG3 "olfactory receptor, family 2, subfamily AG, member 1 (gene/pseudogene)|olfactory receptor family 2 subfamily AG member 1 (gene/pseudogene)" Olfactory receptors, family 2 149 2001-03-28 2020-05-01 2020-05-01 144125 ENSG00000279486 OTTHUMG00000165735 uc057yod.1 AB065823 NM_001004489 CCDS31414 Q9H205 "MGI:3030528|MGI:3030539" RGD:1332882 OR2AG1 HGNC:15142 "ENST00000641258.1|NM_001004489.3" +HGNC:15143 OR2AG2 olfactory receptor family 2 subfamily AG member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR2AG2P olfactory receptor, family 2, subfamily AG, member 2 Olfactory receptors, family 2 149 2001-03-28 2004-03-10 2015-12-09 2015-12-09 338755 ENSG00000188124 OTTHUMG00000165868 uc001meq.2 AB065539 NM_001004490 CCDS31413 A6NM03 "MGI:3030535|MGI:3030540" OR2AG2 HGNC:15143 "ENST00000641124.1|NM_001004490.2" +HGNC:15144 OR2AH1P olfactory receptor family 2 subfamily AH member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 2, subfamily AH, member 1 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81336 ENSG00000232511 OTTHUMG00000154208 NG_004244 PGOHUM00000242282 OR2AH1P HGNC:15144 +HGNC:15063 OR2AI1P olfactory receptor family 2 subfamily AI member 1 pseudogene pseudogene pseudogene Approved 5q35.3 05q35.3 olfactory receptor, family 2, subfamily AI, member 1 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 134082 ENSG00000236791 OTTHUMG00000163300 AC025336 NG_004289 PGOHUM00000251349 OR2AI1P HGNC:15063 +HGNC:15001 OR2AJ1 olfactory receptor family 2 subfamily AJ member 1 protein-coding gene gene with protein product Approved 1q44 01q44 OR2AJ1Q OR2AJ1P "olfactory receptor, family 2, subfamily AJ, member 1 pseudogene|olfactory receptor, family 2, subfamily AJ, member 1" Olfactory receptors, family 2 149 2001-03-28 2004-03-05 2015-12-09 2017-11-24 127608 ENSG00000177275 OTTHUMG00000040206 uc057raw.1 NM_001355235 Q8NGZ0 "MGI:3030003|MGI:3030004|MGI:3030005" RGD:1333751 OR2AJ1 HGNC:15001 "ENST00000318244.4|NM_001355235.2" +HGNC:19569 OR2AK2 olfactory receptor family 2 subfamily AK member 2 protein-coding gene gene with protein product Approved 1q44 01q44 OR2AK1P olfactory receptor, family 2, subfamily AK, member 2 Olfactory receptors, family 2 149 2002-11-04 2015-12-09 2015-12-09 391191 ENSG00000187080 OTTHUMG00000040201 uc010pzd.3 BK004457 NM_001004491 CCDS31102 Q8NG84 "MGI:3030150|MGI:3030152|MGI:3030153|MGI:3030155" RGD:1332943 OR2AK2 HGNC:19569 +HGNC:14712 OR2AL1P olfactory receptor family 2 subfamily AL member 1 pseudogene pseudogene pseudogene Approved 11q22.3 11q22.3 olfactory receptor, family 2, subfamily AL, member 1 pseudogene Olfactory receptors, family 2 149 2001-02-28 2015-12-09 2015-12-09 79547 ENSG00000254767 OTTHUMG00000166222 AC017094 NG_002273 PGOHUM00000242462 OR2AL1P HGNC:14712 +HGNC:15113 OR2AM1P olfactory receptor family 2 subfamily AM member 1 pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 olfactory receptor, family 2, subfamily AM, member 1 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81366 ENSG00000236110 OTTHUMG00000019895 NG_004255 PGOHUM00000236453 OR2AM1P HGNC:15113 +HGNC:31247 OR2AO1P olfactory receptor family 2 subfamily AO member 1 pseudogene pseudogene pseudogene Approved 7q35 07q35 olfactory receptor, family 2, subfamily AO, member 1 pseudogene Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 403235 ENSG00000240621 OTTHUMG00000158012 NG_004409 PGOHUM00000233626 OR2AO1P HGNC:31247 +HGNC:15335 OR2AP1 olfactory receptor family 2 subfamily AP member 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 OR2AP1P "olfactory receptor, family 2, subfamily AP, member 1 pseudogene|olfactory receptor, family 2, subfamily AP, member 1" Olfactory receptors, family 2 149 2001-03-28 2004-03-10 2015-12-09 2015-12-09 121129 ENSG00000179615 OTTHUMG00000169960 uc031qhr.1 BK004260 NM_001258285 CCDS58241 Q8NGE2 "MGI:3030599|MGI:3030601" RGD:1332910 OR2AP1 HGNC:15335 "ENST00000641114.1|NM_001258285.2" +HGNC:15003 OR2AQ1P olfactory receptor family 2 subfamily AQ member 1 pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 olfactory receptor, family 2, subfamily AQ, member 1 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81474 ENSG00000229724 OTTHUMG00000022769 AP002534 NG_004276 OR2AQ1P HGNC:15003 +HGNC:15004 OR2AS1P olfactory receptor family 2 subfamily AS member 1 pseudogene pseudogene pseudogene Approved 1q44 01q44 olfactory receptor, family 2, subfamily AS, member 1 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81473 ENSG00000227102 OTTHUMG00000040385 NG_004705 PGOHUM00000244546 OR2AS1P HGNC:15004 +HGNC:31248 OR2AS2P olfactory receptor family 2 subfamily AS member 2 pseudogene pseudogene pseudogene Approved 1q44 01q44 olfactory receptor, family 2, subfamily AS, member 2 pseudogene Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 403236 ENSG00000271934 OTTHUMG00000185769 NG_004706 PGOHUM00000245308 OR2AS2P HGNC:31248 +HGNC:15145 OR2AT1P olfactory receptor family 2 subfamily AT member 1 pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 olfactory receptor, family 2, subfamily AT, member 1 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 390225 ENSG00000254475 OTTHUMG00000165421 AP001972 NG_004338 PGOHUM00000242371 OR2AT1P HGNC:15145 +HGNC:19619 OR2AT2P olfactory receptor family 2 subfamily AT member 2 pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 olfactory receptor, family 2, subfamily AT, member 2 pseudogene Olfactory receptors, family 2 149 2002-11-04 2015-12-09 2016-10-05 390224 ENSG00000234611 OTTHUMG00000154334 NG_004337 PGOHUM00000242369 OR2AT2P HGNC:19619 +HGNC:19620 OR2AT4 olfactory receptor family 2 subfamily AT member 4 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 olfactory receptor, family 2, subfamily AT, member 4 Olfactory receptors, family 2 149 2002-11-04 2015-12-09 2015-12-09 341152 ENSG00000171561 OTTHUMG00000165370 uc010rro.3 BK004820 NM_001005285 CCDS31639 A6NND4 MGI:3030354 RGD:1333428 OR2AT4 HGNC:19620 +HGNC:13966 OR2B2 olfactory receptor family 2 subfamily B member 2 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "hs6M1-10|OR6-1|OR2B2Q" OR2B9 "olfactory receptor, family 2, subfamily B, member 9|olfactory receptor, family 2, subfamily B, member 2" Olfactory receptors, family 2 149 2001-04-03 2015-12-09 2016-10-05 81697 ENSG00000168131 OTTHUMG00000014495 uc011dkw.2 Z98744 NM_033057 CCDS4641 Q9GZK3 MGI:3031193 RGD:621794 OR2B2 HGNC:13966 "ENST00000303324.4|NM_033057.2" +HGNC:8238 OR2B3 olfactory receptor family 2 subfamily B member 3 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 OR6-4 OR2B3P "olfactory receptor, family 2, subfamily B, member 3 pseudogene|olfactory receptor, family 2, subfamily B, member 3" Olfactory receptors, family 2 149 1999-12-09 2008-10-22 2015-12-09 2016-10-05 442184 ENSG00000204703 OTTHUMG00000031226 uc003nlx.4 NM_001005226 CCDS34358 O76000 OR2B3 HGNC:8238 "ENST00000377173.4|NM_001005226.2" +HGNC:8239 OR2B4P olfactory receptor family 2 subfamily B member 4 pseudogene pseudogene pseudogene Approved 6p22.2-p21.32 06p22.2-p21.32 hs6M1-22 olfactory receptor, family 2, subfamily B, member 4 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 442190 OTTHUMG00000031195 NG_004686 OR2B4P HGNC:8239 +HGNC:8241 OR2B6 olfactory receptor family 2 subfamily B member 6 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "OR6-31|dJ408B20.2|OR5-40|OR5-41" "OR2B6P|OR2B1|OR2B1P|OR2B5" olfactory receptor, family 2, subfamily B, member 6 Olfactory receptors, family 2 149 1999-11-17 2015-12-09 2015-12-09 26212 ENSG00000124657 OTTHUMG00000014497 uc011dkx.2 U86275 NM_012367 CCDS4642 P58173 9500546 MGI:104715 OR2B6 HGNC:8241 "ENST00000244623.1|NM_012367.1" +HGNC:13967 OR2B7P olfactory receptor family 2 subfamily B member 7 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 hs6M1-31P olfactory receptor, family 2, subfamily B, member 7 pseudogene Olfactory receptors, family 2 149 2001-04-03 2015-12-09 2015-12-09 81695 ENSG00000187763 OTTHUMG00000014504 NG_004280 PGOHUM00000243538 OR2B7P HGNC:13967 +HGNC:13968 OR2B8P olfactory receptor family 2 subfamily B member 8 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 hs6M1-29P OR2B8 olfactory receptor, family 2, subfamily B, member 8 pseudogene Olfactory receptors, family 2 149 2001-02-08 2004-03-10 2015-12-09 2015-12-09 65944 ENSG00000182477 OTTHUMG00000014507 NR_174096 P59922 PGOHUM00000243099 OR2B8P HGNC:13968 +HGNC:31249 OR2B11 olfactory receptor family 2 subfamily B member 11 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily B, member 11 Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 127623 ENSG00000177535 OTTHUMG00000040572 uc010pyx.2 NM_001004492 CCDS31090 Q5JQS5 MGI:3030056 RGD:1333777 OR2B11 HGNC:31249 "ENST00000641149.2|NM_001004492.2" +HGNC:31250 OR2BH1P olfactory receptor family 2 subfamily BH member 1 pseudogene pseudogene pseudogene Approved 11p14.1 11p14.1 olfactory receptor, family 2, subfamily BH, member 1 pseudogene Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 403238 ENSG00000272882 OTTHUMG00000186077 NG_004410 PGOHUM00000242625 OR2BH1P HGNC:31250 +HGNC:8242 OR2C1 olfactory receptor family 2 subfamily C member 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 OLFmf3 OR2C2P olfactory receptor, family 2, subfamily C, member 1 Olfactory receptors, family 2 149 1998-06-25 2015-12-09 2015-12-09 4993 ENSG00000168158 OTTHUMG00000090505 uc002cuw.2 AF098664 NM_012368 CCDS10502 O95371 9847080 MGI:106182 RGD:1334376 OR2C1 HGNC:8242 "ENST00000304936.4|NM_012368.3" +HGNC:15005 OR2C3 olfactory receptor family 2 subfamily C member 3 protein-coding gene gene with protein product Approved 1q44 01q44 OST742 "OR2C4|OR2C5P" "olfactory receptor, family 2, subfamily C, member 4|olfactory receptor, family 2, subfamily C, member 3" Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81472 ENSG00000196242 OTTHUMG00000040579 uc009xgy.3 BC030717 NM_198074 CCDS1634 Q8N628 OR2C3 HGNC:15005 "ENST00000641802.1|NM_198074.6" +HGNC:8244 OR2D2 olfactory receptor family 2 subfamily D member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "OR11-610|hg27" OR2D1 olfactory receptor, family 2, subfamily D, member 2 Olfactory receptors, family 2 149 1998-11-09 2015-12-09 2015-12-09 120776 ENSG00000166368 OTTHUMG00000165741 uc010rau.3 AB065824 NM_003700 CCDS31416 Q9H210 9787077 MGI:3030549 RGD:1333500 608494 OR2D2 HGNC:8244 "ENST00000299459.3|NM_003700.1" +HGNC:15146 OR2D3 olfactory receptor family 2 subfamily D member 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 2, subfamily D, member 3 Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 120775 ENSG00000178358 OTTHUMG00000165742 uc010rav.3 BK004294 NM_001004684 CCDS31417 Q8NGH3 "MGI:3030541|MGI:3030543|MGI:3031366" RGD:1333621 OR2D3 HGNC:15146 "ENST00000317834.5|NM_001004684.1" +HGNC:15507 OR2E1P olfactory receptor family 2 subfamily E member 1 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "hs6M1-9|hs6M1-9p|HS29K1|HSNH0569I24" "OR2E1|OR2E2" olfactory receptor, family 2, subfamily E, member 1 pseudogene Olfactory receptors, family 2 149 2001-04-06 2015-12-09 2017-10-30 26719 ENSG00000219262 OTTHUMG00000014523 AC005678 NG_004088 PGOHUM00000301291 OR2E1P HGNC:15507 +HGNC:8246 OR2F1 olfactory receptor family 2 subfamily F member 1 protein-coding gene gene with protein product Approved 7q35 07q35 "OLF3|OR7-140|OR7-139|OR14-60" "OR2F4|OR2F5|OR2F3|OR2F3P" "olfactory receptor, family 2, subfamily F, member 1|olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)|olfactory receptor family 2 subfamily F member 1 (gene/pseudogene)" Olfactory receptors, family 2 149 1999-11-17 2020-05-01 2020-05-01 26211 ENSG00000213215 OTTHUMG00000157771 uc003wds.1 U56421 NM_012369 Q13607 9500546 "MGI:1313140|MGI:3030287" RGD:1332594 608497 OR2F1 HGNC:8246 "ENST00000641412.1|NM_012369.3" +HGNC:8247 OR2F2 olfactory receptor family 2 subfamily F member 2 protein-coding gene gene with protein product Approved 7q35 07q35 OR7-1 olfactory receptor, family 2, subfamily F, member 2 Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2016-10-05 135948 ENSG00000221910 OTTHUMG00000157768 uc011ktv.3 NM_001004685 CCDS43666 O95006 MGI:3030286 RGD:1333950 OR2F2 HGNC:8247 "ENST00000408955.3|NM_001004685.1" +HGNC:8251 OR2G1P olfactory receptor family 2 subfamily G member 1 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "OST619|hs6M1-25" olfactory receptor, family 2, subfamily G, member 1 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2017-10-30 26717 ENSG00000213911 OTTHUMG00000031115 NG_004689 PGOHUM00000301300 OR2G1P HGNC:8251 +HGNC:15007 OR2G2 olfactory receptor family 2 subfamily G member 2 protein-coding gene gene with protein product Approved 1q44 01q44 "olfactory receptor, family 2, subfamily G, member 2 pseudogene|olfactory receptor, family 2, subfamily G, member 2" Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81470 ENSG00000177489 OTTHUMG00000040575 uc010pyy.2 BK004472 NM_001001915 CCDS31092 Q8NGZ5 RGD:1333100 OR2G2 HGNC:15007 "ENST00000320065.1|NM_001001915.1" +HGNC:15008 OR2G3 olfactory receptor family 2 subfamily G member 3 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily G, member 3 Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81469 ENSG00000177476 OTTHUMG00000040576 uc010pyz.2 BK004417 NM_001001914 CCDS31093 Q8NGZ4 RGD:9225340 OR2G3 HGNC:15008 "ENST00000320002.3|NM_001001914.1" +HGNC:27019 OR2G6 olfactory receptor family 2 subfamily G member 6 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily G, member 6 Olfactory receptors, family 2 149 2005-03-07 2015-12-09 2018-11-16 391211 ENSG00000188558 OTTHUMG00000040462 uc001ien.1 NM_001013355 CCDS31119 Q5TZ20 RGD:735025 OR2G6 HGNC:27019 "ENST00000641804.1|NM_001013355.2" +HGNC:8252 OR2H1 olfactory receptor family 2 subfamily H member 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 OR6-2 "OR2H6|OR2H8" "olfactory receptor, family 2, subfamily H, member 8|olfactory receptor, family 2, subfamily H, member 1" Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 26716 ENSG00000204688 OTTHUMG00000031050 uc063mnb.1 AF044491 NM_001318014 CCDS4660 Q9GZK4 "MGI:2177474|MGI:2177476" RGD:1332725 OR2H1 HGNC:8252 "ENST00000377133.6|NM_030883.5" +HGNC:8253 OR2H2 olfactory receptor family 2 subfamily H member 2 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 hs6M1-12 olfactory receptor, family 2, subfamily H, member 2 Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2016-01-15 7932 ENSG00000204657 OTTHUMG00000031052 uc003nmr.2 NM_007160 CCDS34365 O95918 "MGI:2177473|MGI:2177475" RGD:1332876 600578 OR2H2 HGNC:8253 "ENST00000641840.1|NM_007160.4" +HGNC:8255 OR2H4P olfactory receptor family 2 subfamily H member 4 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "OR6-3|OR2H4|hs6M1-7|dJ80I19.6" olfactory receptor, family 2, subfamily H, member 4 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2021-07-21 442189 ENSG00000230598 OTTHUMG00000031233 NG_004685 OR2H4P HGNC:8255 +HGNC:8256 OR2H5P olfactory receptor family 2 subfamily H member 5 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "OR2H5|hs6M1-13|HS271M21" olfactory receptor, family 2, subfamily H, member 5 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2017-10-30 26713 ENSG00000232173 OTTHUMG00000031261 AF042075 NG_002319 PGOHUM00000301727 OR2H5P HGNC:8256 +HGNC:8258 OR2I1P olfactory receptor family 2 subfamily I member 1 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 HS6M1-14 "OR2I1|OR2I3P|OR2I4P|OR2I2" olfactory receptor, family 2, subfamily I, member 1 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 442197 ENSG00000237988 OTTHUMG00000031230 AC004179 NM_001396058 Q8NGU4 MGI:2177477 PGOHUM00000243555 OR2I1P HGNC:8258 +HGNC:8259 OR2J1 olfactory receptor family 2 subfamily J member 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "OR6-5|hs6M1-4|dJ80I19.2" OR2J1P "olfactory receptor, family 2, subfamily J, member 1 pseudogene|olfactory receptor, family 2, subfamily J, member 1|olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)|olfactory receptor family 2 subfamily J member 1 (gene/pseudogene)" Olfactory receptors, family 2 149 1999-12-09 2004-05-28 2020-05-01 2021-10-06 442185 ENSG00000204702 OTTHUMG00000031280 uc063mmp.1 NM_001348294 CCDS87377 Q9GZK6 MGI:2177520 OR2J1P HGNC:8259 "ENST00000641659.2|NM_001348294.2" +HGNC:8260 OR2J2 olfactory receptor family 2 subfamily J member 2 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "OR6-8|hs6M1-6|dJ80I19.4" olfactory receptor, family 2, subfamily J, member 2 Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2016-10-05 26707 ENSG00000204700 OTTHUMG00000031091 uc032yna.2 NM_030905 CCDS43434 O76002 MGI:2177520 RGD:1333177 OR2J2 HGNC:8260 "ENST00000641417.1|NM_030905.3" +HGNC:8261 OR2J3 olfactory receptor family 2 subfamily J member 3 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 OR6-6 olfactory receptor, family 2, subfamily J, member 3 Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2016-10-05 442186 ENSG00000204701 OTTHUMG00000031092 uc011dll.4 NM_001005216 CCDS43433 O76001 MGI:2177520 615016 OR2J3 HGNC:8261 "ENST00000641151.2|NM_001005216.4" +HGNC:8262 OR2J4P olfactory receptor family 2 subfamily J member 4 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "OR6-9|hs6M1-5|dJ80I19.5" olfactory receptor, family 2, subfamily J, member 4 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2017-10-30 442188 ENSG00000224233 OTTHUMG00000031062 NG_004684 PGOHUM00000301720 OR2J4P HGNC:8262 +HGNC:8264 OR2K2 olfactory receptor family 2 subfamily K member 2 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "HTPCRH06|HSHTPCRH06" OR2AR1P olfactory receptor, family 2, subfamily K, member 2 Olfactory receptors, family 2 149 1999-11-19 2015-12-09 2015-12-09 26248 ENSG00000171133 OTTHUMG00000020488 uc011lwp.2 X64977 NM_205859 CCDS6778 Q8NGT1 "1370859|17010214" MGI:3030101 RGD:1332920 OR2K2 HGNC:8264 "ENST00000302681.3|NM_205859.2" +HGNC:8265 OR2L1P olfactory receptor family 2 subfamily L member 1 pseudogene pseudogene pseudogene Approved 1q44 01q44 "HTPCRX02|HSHTPCRX02" "OR2L1|OR2L7P" olfactory receptor, family 2, subfamily L, member 1 pseudogene Olfactory receptors, family 2 149 1999-11-19 2004-03-10 2015-12-09 2015-12-09 26247 ENSG00000224227 OTTHUMG00000040216 X64980 NR_002145 1370859 OR2L1P HGNC:8265 +HGNC:8266 OR2L2 olfactory receptor family 2 subfamily L member 2 protein-coding gene gene with protein product Approved 1q44 01q44 "HTPCRH07|HSHTPCRH07" "OR2L4P|OR2L12" olfactory receptor, family 2, subfamily L, member 2 Olfactory receptors, family 2 149 1999-11-19 2015-12-09 2015-12-09 26246 ENSG00000203663 OTTHUMG00000040214 uc001idw.4 X64978 NM_001004686 CCDS31103 Q8NH16 1370859 MGI:3030001 RGD:6495384 OR2L2 HGNC:8266 "ENST00000641771.1|NM_001385855.1" +HGNC:15009 OR2L3 olfactory receptor family 2 subfamily L member 3 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily L, member 3 Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 391192 ENSG00000198128 OTTHUMG00000040195 uc001idx.1 AB065950 NM_001004687 CCDS31104 Q8NG85 MGI:3030001 OR2L3 HGNC:15009 "ENST00000359959.4|NM_001004687.2" +HGNC:15011 OR2L5 olfactory receptor family 2 subfamily L member 5 protein-coding gene gene with protein product Approved 1q44 01q44 "OR2L11|OR2L5P" olfactory receptor, family 2, subfamily L, member 5 Olfactory receptors, family 2 149 2001-03-28 2004-03-10 2015-12-09 2015-12-09 81466 ENSG00000197454 OTTHUMG00000040194 uc031psy.1 NM_001258284 CCDS58068 Q8NG80 MGI:3030001 OR2L5 HGNC:15011 "ENST00000355281.2|NM_001258284.2" +HGNC:15012 OR2L6P olfactory receptor family 2 subfamily L member 6 pseudogene pseudogene pseudogene Approved 1q44 01q44 olfactory receptor, family 2, subfamily L, member 6 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81465 ENSG00000232215 OTTHUMG00000040217 NG_004274 PGOHUM00000245305 OR2L6P HGNC:15012 +HGNC:15014 OR2L8 olfactory receptor family 2 subfamily L member 8 protein-coding gene gene with protein product Approved 1q44 01q44 "olfactory receptor, family 2, subfamily L, member 8|olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)|olfactory receptor family 2 subfamily L member 8 (gene/pseudogene)" Olfactory receptors, family 2 149 2001-03-28 2020-05-01 2020-05-01 391190 ENSG00000279263 OTTHUMG00000040196 uc001idt.1 BK004459 NM_001001963 Q8NGY9 MGI:3030001 OR2L8 HGNC:15014 "ENST00000623922.1|NM_001001963.1" +HGNC:15015 OR2L9P olfactory receptor family 2 subfamily L member 9 pseudogene pseudogene pseudogene Approved 1q44 01q44 olfactory receptor, family 2, subfamily L, member 9 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81462 ENSG00000237492 OTTHUMG00000040215 NG_004273 PGOHUM00000245303 OR2L9P HGNC:15015 +HGNC:19578 OR2L13 olfactory receptor family 2 subfamily L member 13 protein-coding gene gene with protein product Approved 1q44 01q44 OR2L14 olfactory receptor, family 2, subfamily L, member 13 Olfactory receptors, family 2 149 2002-11-04 2015-12-09 2015-12-09 284521 ENSG00000196071 OTTHUMG00000040446 uc001ids.4 BC028158 NM_175911 CCDS1637 Q8N349 "MGI:3030000|MGI:3030002" RGD:1333362 OR2L13 HGNC:19578 +HGNC:8267 OR2M1P olfactory receptor family 2 subfamily M member 1 pseudogene pseudogene pseudogene Approved 1q44 01q44 OST037 OR2M1 olfactory receptor, family 2, subfamily M, member 1 pseudogene Olfactory receptors, family 2 149 1999-12-09 2004-03-10 2015-12-09 2015-12-09 388762 ENSG00000177233 OTTHUMG00000040445 AF308814 NR_002141 12213199 OR2M1P HGNC:8267 +HGNC:8268 OR2M2 olfactory receptor family 2 subfamily M member 2 protein-coding gene gene with protein product Approved 1q44 01q44 "OST423|OR2M2Q" olfactory receptor, family 2, subfamily M, member 2 Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 391194 ENSG00000198601 OTTHUMG00000040460 uc010pzf.2 AF399616 NM_001004688 CCDS31106 Q96R28 12213199 "MGI:3029998|MGI:3029999" OR2M2 HGNC:8268 "ENST00000641836.1|NM_001004688.2" +HGNC:8269 OR2M3 olfactory receptor family 2 subfamily M member 3 protein-coding gene gene with protein product Approved 1q44 01q44 OST003 "OR2M6|OR2M3P" olfactory receptor, family 2, subfamily M, member 3 Olfactory receptors, family 2 149 1999-12-09 2004-03-10 2015-12-09 2015-12-09 127062 ENSG00000228198 OTTHUMG00000040459 uc010pzg.2 NM_001004689 CCDS31107 Q8NG83 "MGI:3029998|MGI:3029999" RGD:1333258 OR2M3 HGNC:8269 "ENST00000641626.1|NM_001004689.2" +HGNC:8270 OR2M4 olfactory receptor family 2 subfamily M member 4 protein-coding gene gene with protein product Approved 1q44 01q44 "HTPCRX18|TPCR100|HSHTPCRX18|OST710" olfactory receptor, family 2, subfamily M, member 4 Olfactory receptors, family 2 149 1999-11-19 2015-12-09 2015-12-09 26245 ENSG00000171180 OTTHUMG00000040456 uc010pzh.2 X64992 NM_017504 CCDS31108 Q96R27 "1370859|9119360" OR2M4 HGNC:8270 "ENST00000641868.1|NM_017504.2" +HGNC:19576 OR2M5 olfactory receptor family 2 subfamily M member 5 protein-coding gene gene with protein product Approved 1q44 01q44 OR2M5P olfactory receptor, family 2, subfamily M, member 5 Olfactory receptors, family 2 149 2002-11-04 2004-03-10 2015-12-09 2015-12-09 127059 ENSG00000162727 OTTHUMG00000040447 uc010pze.2 NM_001004690 CCDS31105 A3KFT3 "MGI:3029998|MGI:3029999" OR2M5 HGNC:19576 "ENST00000366476.1|NM_001004690.1" +HGNC:19594 OR2M7 olfactory receptor family 2 subfamily M member 7 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily M, member 7 Olfactory receptors, family 2 149 2002-11-04 2015-12-09 2015-12-09 391196 ENSG00000177186 OTTHUMG00000040461 uc010pzk.2 BK004486 NM_001004691 CCDS31111 Q8NG81 "MGI:3029998|MGI:3029999" 618509 OR2M7 HGNC:19594 "ENST00000317965.3|NM_001004691.1" +HGNC:8271 OR2N1P olfactory receptor family 2 subfamily N member 1 pseudogene pseudogene pseudogene Approved 6p22.2-p21.31 06p22.2-p21.31 OR6-7 olfactory receptor, family 2, subfamily N, member 1 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2022-03-14 26701 ENSG00000203492 OTTHUMG00000031224 AJ132194 NG_002216 OR2N1P HGNC:8271 +HGNC:8272 OR2P1P olfactory receptor family 2 subfamily P member 1 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 hs6M1-26 olfactory receptor, family 2, subfamily P, member 1 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2017-10-30 442183 ENSG00000236909 OTTHUMG00000031042 NG_004693 PGOHUM00000301297 OR2P1P HGNC:8272 +HGNC:8273 OR2Q1P olfactory receptor family 2 subfamily Q member 1 pseudogene pseudogene pseudogene Approved 7q35 07q35 OR7-2 olfactory receptor, family 2, subfamily Q, member 1 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2017-10-30 346524 ENSG00000273377 OTTHUMG00000059327 AC004853 NG_004310 PGOHUM00000302995 OR2Q1P HGNC:8273 +HGNC:8274 OR2R1P olfactory receptor family 2 subfamily R member 1, pseudogene pseudogene pseudogene Approved 7q35 07q35 OST058 OR2R1 "olfactory receptor, family 2, subfamily R, member 1 pseudogene|olfactory receptor family 2 subfamily R member 1 pseudogene" Olfactory receptors, family 2 149 1999-12-09 2018-01-12 2018-01-12 392132 ENSG00000236853 OTTHUMG00000154318 NG_004373.2 OR2R1P HGNC:8274 +HGNC:8275 OR2S1P olfactory receptor family 2 subfamily S member 1 pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 OST611 olfactory receptor, family 2, subfamily S, member 1 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 392313 ENSG00000228307 OTTHUMG00000019894 NG_004379 PGOHUM00000236452 OR2S1P HGNC:8275 +HGNC:8276 OR2S2 olfactory receptor family 2 subfamily S member 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "olfactory receptor, family 2, subfamily S, member 2 (gene/pseudogene)|olfactory receptor family 2 subfamily S member 2 (gene/pseudogene)" Olfactory receptors, family 2 149 2000-06-19 2020-05-01 2020-05-01 56656 ENSG00000278889 OTTHUMG00000019891 uc064tae.1 AL135841 NM_019897 CCDS6596 Q9NQN1 RGD:1334076 OR2S2 HGNC:8276 "ENST00000341959.2|NM_019897.2" +HGNC:8277 OR2T1 olfactory receptor family 2 subfamily T member 1 protein-coding gene gene with protein product Approved 1q44 01q44 OR1-25 olfactory receptor, family 2, subfamily T, member 1 Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 26696 ENSG00000175143 OTTHUMG00000040450 uc010pzm.2 U86215 NM_030904 CCDS31115 O43869 9500546 MGI:109304 RGD:1334361 OR2T1 HGNC:8277 "ENST00000642005.1|NM_030904.2" +HGNC:14725 OR2T2 olfactory receptor family 2 subfamily T member 2 protein-coding gene gene with protein product Approved 1q44 01q44 OR2T2P "olfactory receptor, family 2, subfamily T, member 2 pseudogene|olfactory receptor, family 2, subfamily T, member 2" Olfactory receptors, family 2 149 2001-02-28 2002-11-15 2015-12-09 2015-12-09 401992 ENSG00000196240 OTTHUMG00000040480 uc001iek.1 BK004462 NM_001004136 CCDS31116 Q6IF00 14983052 OR2T2 HGNC:14725 +HGNC:14727 OR2T3 olfactory receptor family 2 subfamily T member 3 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily T, member 3 Olfactory receptors, family 2 149 2001-02-28 2015-12-09 2015-12-09 343173 ENSG00000196539 OTTHUMG00000040452 uc001iel.1 NM_001005495 CCDS31117 Q8NH03 OR2T3 HGNC:14727 "ENST00000359594.3|NM_001005495.1" +HGNC:15016 OR2T4 olfactory receptor family 2 subfamily T member 4 protein-coding gene gene with protein product Approved 1q44 01q44 OR2T4Q olfactory receptor, family 2, subfamily T, member 4 Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 127074 ENSG00000196944 OTTHUMG00000040453 uc001ieh.1 BK004464 NM_001004696 CCDS31113 Q8NH00 "MGI:3030058|MGI:3030162|MGI:3030164|MGI:3030165" RGD:1333736 OR2T4 HGNC:15016 "ENST00000366473.4|NM_001004696.2" +HGNC:15017 OR2T5 olfactory receptor family 2 subfamily T member 5 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily T, member 5 Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 401993 ENSG00000203661 OTTHUMG00000040481 uc001iem.1 BK004465 NM_001004697 CCDS31118 Q6IEZ7 "MGI:3030058|MGI:3030159|MGI:3030162|MGI:3030164|MGI:3030165" RGD:1332670 OR2T5 HGNC:15017 "ENST00000641363.1|NM_001004697.2" +HGNC:15018 OR2T6 olfactory receptor family 2 subfamily T member 6 protein-coding gene gene with protein product Approved 1q44 01q44 OST703 "OR2T6P|OR2T9" olfactory receptor, family 2, subfamily T, member 6 Olfactory receptors, family 2 149 2001-03-28 2004-03-10 2015-12-09 2015-12-09 254879 ENSG00000198104 OTTHUMG00000040448 uc001iei.1 AF399481 NM_001005471 CCDS31114 Q8NHC8 MGI:3030554 RGD:1334102 OR2T6 HGNC:15018 "ENST00000641644.1|NM_001005471.2" +HGNC:15019 OR2T7 olfactory receptor family 2 subfamily T member 7 protein-coding gene gene with protein product Approved 1q44 01q44 OST723 OR2T7P olfactory receptor, family 2, subfamily T, member 7 Olfactory receptors, family 2 149 2001-03-28 2004-03-10 2015-12-09 2017-11-23 81458 ENSG00000227152 OTTHUMG00000040449 uc061ftm.1 NM_001386052 P0C7T2 OR2T7 HGNC:15019 +HGNC:15020 OR2T8 olfactory receptor family 2 subfamily T member 8 protein-coding gene gene with protein product Approved 1q44 01q44 OR2T8P olfactory receptor, family 2, subfamily T, member 8 Olfactory receptors, family 2 149 2001-03-28 2004-03-10 2015-12-09 2018-07-17 343172 ENSG00000177462 OTTHUMG00000040205 uc010pzc.2 NM_001005522 CCDS31100 A6NH00 MGI:3030148 OR2T8 HGNC:15020 "ENST00000641945.2|NM_001005522.2" +HGNC:19573 OR2T10 olfactory receptor family 2 subfamily T member 10 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily T, member 10 Olfactory receptors, family 2 149 2002-11-04 2015-12-09 2015-12-09 127069 ENSG00000184022 OTTHUMG00000040388 uc010pzn.2 NM_001004693 CCDS31121 Q8NGZ9 OR2T10 HGNC:19573 "ENST00000642090.1|NM_001004693.2" +HGNC:19574 OR2T11 olfactory receptor family 2 subfamily T member 11 protein-coding gene gene with protein product Approved 1q44 01q44 OR2T11Q "olfactory receptor, family 2, subfamily T, member 11|olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)|olfactory receptor family 2 subfamily T member 11 (gene/pseudogene)" Olfactory receptors, family 2 149 2002-11-04 2020-05-01 2020-05-01 127077 ENSG00000279301 OTTHUMG00000040384 uc001ier.1 BK004476 NM_001001964 Q8NH01 OR2T11 HGNC:19574 "ENST00000641193.1|NM_001001964.2" +HGNC:19592 OR2T12 olfactory receptor family 2 subfamily T member 12 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily T, member 12 Olfactory receptors, family 2 149 2002-11-04 2015-12-09 2015-12-09 127064 ENSG00000177201 OTTHUMG00000040457 uc010pzj.2 BK004485 NM_001004692 CCDS31110 Q8NG77 MGI:3030148 OR2T12 HGNC:19592 "ENST00000641276.1|NM_001004692.2" +HGNC:31252 OR2T27 olfactory receptor family 2 subfamily T member 27 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily T, member 27 Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 403239 ENSG00000187701 OTTHUMG00000040376 uc010pzo.2 NM_001001824 CCDS31124 Q8NH04 OR2T27 HGNC:31252 "ENST00000460972.4|NM_001001824.2" +HGNC:31253 OR2T29 olfactory receptor family 2 subfamily T member 29 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily T, member 29 Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 343563 ENSG00000182783 OTTHUMG00000040382 uc001ieo.2 NM_001004694 CCDS55695 Q8NH02 "MGI:3030058|MGI:3030159|MGI:3030162|MGI:3030165" RGD:9196653 OR2T29 HGNC:31253 "ENST00000641069.1|NM_001004694.3" +HGNC:31254 OR2T32P olfactory receptor family 2 subfamily T member 32 pseudogene pseudogene pseudogene Approved 1q44 01q44 olfactory receptor, family 2, subfamily T, member 32 pseudogene Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 403241 ENSG00000197067 OTTHUMG00000040455 NG_004411 PGOHUM00000244545 OR2T32P HGNC:31254 +HGNC:31255 OR2T33 olfactory receptor family 2 subfamily T member 33 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily T, member 33 Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 391195 ENSG00000177212 OTTHUMG00000040458 uc010pzi.2 NM_001004695 CCDS31109 Q8NG76 MGI:3030148 RGD:1333990 OR2T33 HGNC:31255 "ENST00000641220.1|NM_001004695.2" +HGNC:31256 OR2T34 olfactory receptor family 2 subfamily T member 34 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily T, member 34 Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 127068 ENSG00000183310 OTTHUMG00000040387 uc001iep.1 BK004477 NM_001001821 CCDS31120 Q8NGX1 OR2T34 HGNC:31256 "ENST00000328782.3|NM_001001821.1" +HGNC:31257 OR2T35 olfactory receptor family 2 subfamily T member 35 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 2, subfamily T, member 35 Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 403244 ENSG00000177151 OTTHUMG00000040380 uc001ies.1 BK004475 NM_001001827 CCDS31123 Q8NGX2 MGI:3030555 RGD:1333947 OR2T35 HGNC:31257 "ENST00000641268.1|NM_001001827.2" +HGNC:8278 OR2U1P olfactory receptor family 2 subfamily U member 1 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 hs6M1-24 OR2AU1P olfactory receptor, family 2, subfamily U, member 1 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2021-10-07 26695 ENSG00000204697 OTTHUMG00000031040 NG_004625 PGOHUM00000301301 OR2U1P HGNC:8278 +HGNC:8279 OR2U2P olfactory receptor family 2 subfamily U member 2 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 hs6M1-23 olfactory receptor, family 2, subfamily U, member 2 pseudogene Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2017-10-30 26694 ENSG00000242524 OTTHUMG00000031055 NG_004687 PGOHUM00000301302 OR2U2P HGNC:8279 +HGNC:8280 OR2V1 olfactory receptor family 2 subfamily V member 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 OST265 OR2V1P olfactory receptor, family 2, subfamily V, member 1 Olfactory receptors, family 2 149 1999-12-09 2004-03-10 2015-12-09 2015-12-09 26693 ENSG00000185372 OTTHUMG00000162118 uc031smg.1 AB065465 NM_001258283 CCDS58992 Q8NHB1 MGI:1333785 RGD:1334353 OR2V1 HGNC:8280 "ENST00000641551.1|NM_001258283.2" +HGNC:15341 OR2V2 olfactory receptor family 2 subfamily V member 2 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 OST713 OR2V3 olfactory receptor, family 2, subfamily V, member 2 Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 285659 ENSG00000182613 OTTHUMG00000130933 uc011dhj.2 AL161615 NM_206880 CCDS4461 Q96R30 MGI:3031230 RGD:1333300 OR2V2 HGNC:15341 "ENST00000641492.1|NM_206880.2" +HGNC:8281 OR2W1 olfactory receptor family 2 subfamily W member 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 hs6M1-15 olfactory receptor, family 2, subfamily W, member 1 Olfactory receptors, family 2 149 1999-12-09 2015-12-09 2015-12-09 26692 ENSG00000204704 OTTHUMG00000031048 uc003nlw.3 AL035402 NM_030903 CCDS4656 Q9Y3N9 "MGI:3030097|MGI:3031203" RGD:6484939 OR2W1 HGNC:8281 "ENST00000377175.2|NM_030903.3" +HGNC:50896 OR2W1-AS1 OR2W1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Antisense RNAs 1987 2022-01-07 2022-01-07 100129636 ENSG00000277661 OTTHUMG00000189247 NR_125387 +HGNC:13970 OR2W2P olfactory receptor family 2 subfamily W member 2 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 hs6M1-30P olfactory receptor, family 2, subfamily W, member 2 pseudogene Olfactory receptors, family 2 149 2001-04-03 2015-12-09 2015-12-09 81694 ENSG00000217315 OTTHUMG00000014500 NG_004279 PGOHUM00000243537 OR2W2P HGNC:13970 +HGNC:15021 OR2W3 olfactory receptor family 2 subfamily W member 3 protein-coding gene gene with protein product Approved 1q44 01q44 OST718 "OR2W8P|OR2W3P" olfactory receptor, family 2, subfamily W, member 3 Olfactory receptors, family 2 149 2001-03-28 2004-03-10 2015-12-09 2015-12-09 343171 ENSG00000238243 OTTHUMG00000040204 uc010pzb.2 N75737 NM_001001957 CCDS31099 Q7Z3T1 14983052 "MGI:3030151|MGI:3030156" RGD:1332706 616729 470816 OR2W3 HGNC:15021 "ENST00000360358.3|NM_001001957.2" +HGNC:15071 OR2W4P olfactory receptor family 2 subfamily W member 4 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 olfactory receptor, family 2, subfamily W, member 4 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81407 ENSG00000216629 OTTHUMG00000014499 NG_004261 PGOHUM00000243535 OR2W4P HGNC:15071 +HGNC:15424 OR2W5P olfactory receptor family 2 subfamily W member 5 pseudogene pseudogene pseudogene Approved 1q44 01q44 OST722 OR2W5 "olfactory receptor, family 2, subfamily W, member 5|olfactory receptor, family 2, subfamily W, member 5 (gene/pseudogene)|olfactory receptor family 2 subfamily W member 5 (gene/pseudogene)|olfactory receptor family 2 subfamily W member 5" Olfactory receptors, family 2 149 2001-03-28 2020-08-07 2020-08-07 2021-10-07 441932 ENSG00000203664 OTTHUMG00000040573 NR_169841 A6NFC9 12213199 PGOHUM00000245297 OR2W5 HGNC:15424 +HGNC:15072 OR2W6P olfactory receptor family 2 subfamily W member 6 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 OR2W7P olfactory receptor, family 2, subfamily W, member 6 pseudogene Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 81406 ENSG00000168126 OTTHUMG00000014496 AL133267 NG_004260 Q8NHA6 MGI:3031195 RGD:1333996 PGOHUM00000243533 OR2W6P HGNC:15072 +HGNC:31258 OR2X1P olfactory receptor family 2 subfamily X member 1 pseudogene pseudogene pseudogene Approved 1q44 01q44 olfactory receptor, family 2, subfamily X, member 1 pseudogene Olfactory receptors, family 2 149 2004-02-26 2015-12-09 2015-12-09 403245 ENSG00000224830 OTTHUMG00000040210 NG_004412 PGOHUM00000245302 OR2X1P HGNC:31258 +HGNC:14837 OR2Y1 olfactory receptor family 2 subfamily Y member 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 olfactory receptor, family 2, subfamily Y, member 1 Olfactory receptors, family 2 149 2001-02-28 2015-12-09 2018-11-16 134083 ENSG00000174339 OTTHUMG00000162237 uc003mmf.2 AB065676 NM_001001657 CCDS34323 Q8NGV0 "MGI:107598|MGI:3031219|MGI:3031220|MGI:3031223|MGI:3031225|MGI:3031226|MGI:3031227" RGD:1333571 OR2Y1 HGNC:14837 "ENST00000307832.3|NM_001001657.1" +HGNC:15391 OR2Z1 olfactory receptor family 2 subfamily Z member 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 OR2Z2 "olfactory receptor, family 2, subfamily Z, member 2|olfactory receptor, family 2, subfamily Z, member 1" Olfactory receptors, family 2 149 2001-03-28 2015-12-09 2015-12-09 284383 ENSG00000181733 OTTHUMG00000182195 uc010xkg.3 AC008753 NM_001004699 CCDS32895 Q8NG97 "MGI:3030206|MGI:3030207" RGD:1334055 OR2Z1 HGNC:15391 "ENST00000641125.1|NM_001004699.3" +HGNC:8282 OR3A1 olfactory receptor family 3 subfamily A member 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "OLFRA03|OR40|OR17-40" "olfactory receptor, family 3, subfamily A, member 1|olfactory receptor family 3 subfamily A member 1 (gene/pseudogene)" Olfactory receptors, family 3 150 1998-01-29 2020-05-01 2020-05-01 4994 ENSG00000180090 OTTHUMG00000090642 uc002fvh.1 X80391 NM_002550 CCDS11023 P47881 "8921386|8647456" "MGI:3030235|MGI:3030236|MGI:3030244|MGI:3030245" RGD:1333146 OR3A1 HGNC:8282 "ENST00000323404.2|NM_002550.3" +HGNC:8283 OR3A2 olfactory receptor family 3 subfamily A member 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "OLFRA04|OR228|OR17-228" olfactory receptor, family 3, subfamily A, member 2 Olfactory receptors, family 3 150 1998-01-29 2015-12-09 2019-08-20 4995 ENSG00000221882 OTTHUMG00000177668 uc002fvg.4 U04713 NM_002551 CCDS42233 P47893 "8921386|10673334" RGD:1334237 OR3A2 HGNC:8283 +HGNC:8284 OR3A3 olfactory receptor family 3 subfamily A member 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "OR17-201|OR17-137|OR17-16" "OR3A6|OR3A7|OR3A8P" olfactory receptor, family 3, subfamily A, member 3 Olfactory receptors, family 3 150 1998-09-14 2015-12-09 2016-10-05 8392 ENSG00000159961 OTTHUMG00000090649 uc010vrd.2 U04688 NM_001386098 CCDS11025 P47888 "8004088|9500546" OR3A3 HGNC:8284 +HGNC:15510 OR3A4P olfactory receptor family 3 subfamily A member 4 pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 OR3A4 "olfactory receptor, family 3, subfamily A, member 4|olfactory receptor, family 3, subfamily A, member 4 pseudogene" Olfactory receptors, family 3 150 2001-04-06 2011-09-15 2015-12-09 2021-10-07 390756 ENSG00000180068 OTTHUMG00000132940 BK004695 NR_024128 P47883 RGD:1334195 PGOHUM00000237197 OR3A4 HGNC:15510 +HGNC:8286 OR3A5P olfactory receptor family 3 subfamily A member 5 pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 "OLFRA06|OR25|OR17-25|RP11-64J4.6-001" olfactory receptor, family 3, subfamily A, member 5 pseudogene Olfactory receptors, family 3 150 1998-01-29 2015-12-09 2016-11-09 100856809 ENSG00000272546 OTTHUMG00000185967 AF087921 NG_031881 8921386 PGOHUM00000294244 HGNC:8286 +HGNC:14839 OR3B1P olfactory receptor family 3 subfamily B member 1 pseudogene pseudogene pseudogene Approved Xq28 Xq28 olfactory receptor, family 3, subfamily B, member 1 pseudogene Olfactory receptors, family 3 150 2001-02-28 2015-12-09 2015-12-09 392561 ENSG00000237619 OTTHUMG00000024240 AF277315 NG_004382 PGOHUM00000241616 OR3B1P HGNC:14839 +HGNC:25339 OR3D1P olfactory receptor family 3 subfamily D member 1 pseudogene pseudogene pseudogene Approved 1q44 01q44 olfactory receptor, family 3, subfamily D, member 1 pseudogene Olfactory receptors, family 3 150 2005-03-07 2015-12-09 2015-12-09 504175 ENSG00000230411 OTTHUMG00000040200 NG_004862 PGOHUM00000245299 OR3D1P HGNC:25339 +HGNC:8289 OR4A1P olfactory receptor family 4 subfamily A member 1 pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 OR11-30 OR4A20P olfactory receptor, family 4, subfamily A, member 1 pseudogene Olfactory receptors, family 4 151 1998-11-09 2015-12-09 2015-12-09 8596 ENSG00000254408 OTTHUMG00000166682 AF065869 NG_002173 9787077 PGOHUM00000242245 OR4A1P HGNC:8289 +HGNC:15159 OR4A2P olfactory receptor family 4 subfamily A member 2 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 2 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2016-10-05 390133 ENSG00000227547 OTTHUMG00000166766 NG_004330 PGOHUM00000242254 OR4A2P HGNC:15159 +HGNC:15160 OR4A3P olfactory receptor family 4 subfamily A member 3 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 3 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2016-10-05 81320 ENSG00000254464 OTTHUMG00000166767 NG_004237 PGOHUM00000257820 OR4A3P HGNC:15160 +HGNC:15161 OR4A4P olfactory receptor family 4 subfamily A member 4 pseudogene pseudogene pseudogene Approved 11q11 11q11 OR4A4 olfactory receptor, family 4, subfamily A, member 4 pseudogene Olfactory receptors, family 4 151 2001-03-28 2004-03-10 2015-12-09 2016-10-05 390134 ENSG00000254769 OTTHUMG00000166768 NG_004331 Q8NGN8 MGI:3031090 PGOHUM00000250366 OR4A4P HGNC:15161 +HGNC:15162 OR4A5 olfactory receptor family 4 subfamily A member 5 protein-coding gene gene with protein product Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 5 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2016-10-05 81318 ENSG00000221840 OTTHUMG00000166764 uc001nhi.3 AB065506 NM_001005272 CCDS73289 Q8NH83 "MGI:3031072|MGI:3031085|MGI:3031393" RGD:1332997 OR4A5 HGNC:15162 "ENST00000319760.8|NM_001005272.3" +HGNC:15163 OR4A6P olfactory receptor family 4 subfamily A member 6 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 6 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2016-10-05 390131 ENSG00000255078 OTTHUMG00000166763 NG_004329 PGOHUM00000242251 OR4A6P HGNC:15163 +HGNC:15164 OR4A7P olfactory receptor family 4 subfamily A member 7 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 7 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2016-10-05 81316 ENSG00000255349 OTTHUMG00000166765 NG_004236 PGOHUM00000242252 OR4A7P HGNC:15164 +HGNC:15165 OR4A8 olfactory receptor family 4 subfamily A member 8 (gene/pseudogene) protein-coding gene gene with protein product Approved 11q11 11q11 OR4A8P "olfactory receptor, family 4, subfamily A, member 8 pseudogene|olfactory receptor, family 4, subfamily A, member 8 (gene/pseudogene)" Olfactory receptors, family 4 151 2001-03-28 2014-10-02 2015-12-09 2016-10-05 81315 ENSG00000225997 OTTHUMG00000154245 NG_004235 P0C604 "MGI:3031072|MGI:3031080|MGI:3031081|MGI:3031085|MGI:3031088|MGI:3031393" RGD:1332635 PGOHUM00000242253 OR4A8P HGNC:15165 +HGNC:15166 OR4A9P olfactory receptor family 4 subfamily A member 9 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 9 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390137 ENSG00000254891 OTTHUMG00000166712 NG_004333 PGOHUM00000242708 OR4A9P HGNC:15166 +HGNC:15147 OR4A10P olfactory receptor family 4 subfamily A member 10 pseudogene pseudogene pseudogene Approved 11q11 11q11 OR4A25P olfactory receptor, family 4, subfamily A, member 10 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2018-04-30 390138 ENSG00000255493 OTTHUMG00000166778 NG_004334 PGOHUM00000257878 OR4A10P HGNC:15147 +HGNC:15148 OR4A11P olfactory receptor family 4 subfamily A member 11 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 11 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390136 ENSG00000254663 OTTHUMG00000166708 AC011829 NG_004332 PGOHUM00000242706 OR4A11P HGNC:15148 +HGNC:15149 OR4A12P olfactory receptor family 4 subfamily A member 12 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 12 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81331 ENSG00000254723 OTTHUMG00000166709 NG_004243 PGOHUM00000242707 OR4A12P HGNC:15149 +HGNC:15150 OR4A13P olfactory receptor family 4 subfamily A member 13 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 13 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81330 ENSG00000181950 OTTHUMG00000166780 NG_004242 PGOHUM00000257879 OR4A13P HGNC:15150 +HGNC:15151 OR4A14P olfactory receptor family 4 subfamily A member 14 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 14 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81329 ENSG00000254962 OTTHUMG00000166782 NG_004241 OR4A14P HGNC:15151 +HGNC:15152 OR4A15 olfactory receptor family 4 subfamily A member 15 protein-coding gene gene with protein product Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 15 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81328 ENSG00000181958 OTTHUMG00000166711 uc010rif.2 AB065776 NM_001005275 CCDS31500 Q8NGL6 MGI:3031068 RGD:1333480 OR4A15 HGNC:15152 +HGNC:15153 OR4A16 olfactory receptor family 4 subfamily A member 16 protein-coding gene gene with protein product Approved 11q11 11q11 OR4A16Q olfactory receptor, family 4, subfamily A, member 16 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81327 ENSG00000181961 OTTHUMG00000166710 uc010rie.2 AB065519 NM_001005274 CCDS31499 Q8NH70 "MGI:3031072|MGI:3031074|MGI:3031075|MGI:3031076|MGI:3031077|MGI:3031079|MGI:3031080|MGI:3031081|MGI:3031082|MGI:3031083|MGI:3031084|MGI:3031085|MGI:3031086|MGI:3031088|MGI:3031393" RGD:1333089 OR4A16 HGNC:15153 "ENST00000314721.5|NM_001005274.1" +HGNC:15154 OR4A17P olfactory receptor family 4 subfamily A member 17 pseudogene pseudogene pseudogene Approved 11q11 11q11 OR4A22P olfactory receptor, family 4, subfamily A, member 17 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390139 ENSG00000255196 OTTHUMG00000166779 NG_004335 PGOHUM00000242711 OR4A17P HGNC:15154 +HGNC:15155 OR4A18P olfactory receptor family 4 subfamily A member 18 pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 olfactory receptor, family 4, subfamily A, member 18 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81325 ENSG00000254637 OTTHUMG00000166756 NG_004240 PGOHUM00000250363 OR4A18P HGNC:15155 +HGNC:15156 OR4A19P olfactory receptor family 4 subfamily A member 19 pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 olfactory receptor, family 4, subfamily A, member 19 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81324 ENSG00000254940 OTTHUMG00000166757 NG_004239 PGOHUM00000250364 OR4A19P HGNC:15156 +HGNC:15158 OR4A21P olfactory receptor family 4 subfamily A member 21 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 21 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81322 ENSG00000181943 OTTHUMG00000167393 NG_004238 PGOHUM00000257881 OR4A21P HGNC:15158 +HGNC:31259 OR4A40P olfactory receptor family 4 subfamily A member 40 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily A, member 40 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 390116 ENSG00000254832 OTTHUMG00000166584 NG_004327 PGOHUM00000242669 OR4A40P HGNC:31259 +HGNC:31260 OR4A41P olfactory receptor family 4 subfamily A member 41 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily A, member 41 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403247 ENSG00000255297 OTTHUMG00000166605 NG_004413 PGOHUM00000242672 OR4A41P HGNC:31260 +HGNC:31261 OR4A42P olfactory receptor family 4 subfamily A member 42 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily A, member 42 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403248 ENSG00000254674 OTTHUMG00000166606 NG_004414 PGOHUM00000242673 OR4A42P HGNC:31261 +HGNC:31262 OR4A43P olfactory receptor family 4 subfamily A member 43 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily A, member 43 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 390117 ENSG00000255534 OTTHUMG00000166585 NG_004328 PGOHUM00000242670 OR4A43P HGNC:31262 +HGNC:31263 OR4A44P olfactory receptor family 4 subfamily A member 44 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily A, member 44 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403250 ENSG00000255053 OTTHUMG00000166607 NG_004415 PGOHUM00000242674 OR4A44P HGNC:31263 +HGNC:31264 OR4A45P olfactory receptor family 4 subfamily A member 45 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily A, member 45 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403251 ENSG00000213607 OTTHUMG00000166604 NG_004416 PGOHUM00000242671 OR4A45P HGNC:31264 +HGNC:31265 OR4A46P olfactory receptor family 4 subfamily A member 46 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily A, member 46 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403252 ENSG00000255304 OTTHUMG00000166583 NG_004417 PGOHUM00000242668 OR4A46P HGNC:31265 +HGNC:31266 OR4A47 olfactory receptor family 4 subfamily A member 47 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily A, member 47 Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403253 ENSG00000237388 OTTHUMG00000166581 uc010rhx.3 BK004380 NM_001005512 CCDS31490 Q6IF82 MGI:3031090 RGD:1333140 OR4A47 HGNC:31266 "ENST00000446524.2|NM_001005512.2" +HGNC:31267 OR4A48P olfactory receptor family 4 subfamily A member 48 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily A, member 48 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403254 ENSG00000255113 OTTHUMG00000166582 NG_004418 PGOHUM00000242667 OR4A48P HGNC:31267 +HGNC:31268 OR4A49P olfactory receptor family 4 subfamily A member 49 pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 olfactory receptor, family 4, subfamily A, member 49 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403255 ENSG00000254472 OTTHUMG00000166755 NG_004419 PGOHUM00000242246 OR4A49P HGNC:31268 +HGNC:31269 OR4A50P olfactory receptor family 4 subfamily A member 50 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily A, member 50 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403256 ENSG00000255294 OTTHUMG00000166781 NG_004420 OR4A50P HGNC:31269 +HGNC:8290 OR4B1 olfactory receptor family 4 subfamily B member 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 OST208 olfactory receptor, family 4, subfamily B, member 1 Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2015-12-09 119765 ENSG00000175619 OTTHUMG00000166576 uc010rhs.3 AB065848 NM_001005470 CCDS31485 Q8NGF8 "MGI:109303|MGI:3031104|MGI:3031106" RGD:1334071 OR4B1 HGNC:8290 "ENST00000309562.3|NM_001005470.1" +HGNC:8291 OR4B2P olfactory receptor family 4 subfamily B member 2 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 hg449 olfactory receptor, family 4, subfamily B, member 2 pseudogene Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2015-12-09 26690 ENSG00000255514 OTTHUMG00000166577 NG_004136 PGOHUM00000242665 OR4B2P HGNC:8291 +HGNC:8292 OR4C1P olfactory receptor family 4 subfamily C member 1 pseudogene pseudogene pseudogene Approved 11q11 11q11 "HTPCRX11|HSHTPCRX11" OR4C1 olfactory receptor, family 4, subfamily C, member 1 pseudogene Olfactory receptors, family 4 151 1999-11-19 2015-12-09 2015-12-09 26242 ENSG00000254576 OTTHUMG00000166713 X64985 NG_002184 1370859 PGOHUM00000257882 OR4C1P HGNC:8292 +HGNC:14696 OR4C2P olfactory receptor family 4 subfamily C member 2 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 OR4C8P "olfactory receptor, family 4, subfamily C, member 8 pseudogene|olfactory receptor, family 4, subfamily C, member 2 pseudogene" Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 119750 ENSG00000182565 OTTHUMG00000166580 NG_002250 PGOHUM00000242666 OR4C2P HGNC:14696 +HGNC:14697 OR4C3 olfactory receptor family 4 subfamily C member 3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily C, member 3 Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2016-11-09 256144 ENSG00000176547 OTTHUMG00000166579 uc010rhv.3 AB065567 NM_001004702 CCDS31489 Q8NH37 MGI:3031098 RGD:1333798 OR4C3 HGNC:14697 "ENST00000319856.5|NM_001004702.2" +HGNC:14700 OR4C4P olfactory receptor family 4 subfamily C member 4 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 OR4C47P "OR4C17P|OR4C17" "olfactory receptor, family 4, subfamily C, member 17 pseudogene|olfactory receptor, family 4, subfamily C, member 17|olfactory receptor, family 4, subfamily C, member 4 pseudogene" Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2020-04-20 79550 ENSG00000197161 OTTHUMG00000169508 NG_002275 PGOHUM00000290451 OR4C4P HGNC:14700 +HGNC:14702 OR4C5 olfactory receptor family 4 subfamily C member 5 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 OR4C5Q OR4C5P "olfactory receptor, family 4, subfamily C, member 5 pseudogene|olfactory receptor, family 4, subfamily C, member 5|olfactory receptor, family 4, subfamily C, member 5 (gene/pseudogene)|olfactory receptor family 4 subfamily C member 5 (gene/pseudogene)" Olfactory receptors, family 4 151 2001-02-28 2004-03-05 2020-05-01 2021-10-06 79346 ENSG00000176540 OTTHUMG00000169462 uc058bja.1 NM_001348223 CCDS86201 Q8NGB2 MGI:3031094 RGD:1334210 OR4C5 HGNC:14702 "ENST00000319813.3|NM_001348223.2" +HGNC:14743 OR4C6 olfactory receptor family 4 subfamily C member 6 protein-coding gene gene with protein product Approved 11q11 11q11 olfactory receptor, family 4, subfamily C, member 6 Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 219432 ENSG00000181903 OTTHUMG00000166800 uc010rik.2 CR593785 NM_001004704 CCDS31506 Q8NH72 "MGI:3031023|MGI:3031064" RGD:1333562 OR4C6 HGNC:14743 "ENST00000314259.5|NM_001004704.2" +HGNC:14768 OR4C7P olfactory receptor family 4 subfamily C member 7 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily C, member 7 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2016-10-05 79294 ENSG00000255312 OTTHUMG00000166704 NG_002229 PGOHUM00000242703 OR4C7P HGNC:14768 +HGNC:14796 OR4C9P olfactory receptor family 4 subfamily C member 9 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily C, member 9 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79530 ENSG00000254925 OTTHUMG00000166635 NG_002267 PGOHUM00000242226 OR4C9P HGNC:14796 +HGNC:14800 OR4C10P olfactory receptor family 4 subfamily C member 10 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily C, member 10 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79526 ENSG00000184789 OTTHUMG00000154239 NG_002264 PGOHUM00000242225 OR4C10P HGNC:14800 +HGNC:15167 OR4C11 olfactory receptor family 4 subfamily C member 11 protein-coding gene gene with protein product Approved 11q11 11q11 OR4C11P olfactory receptor, family 4, subfamily C, member 11 Olfactory receptors, family 4 151 2001-03-28 2004-03-10 2015-12-09 2015-12-09 219429 ENSG00000172188 OTTHUMG00000165290 uc010rii.2 AB065774 NM_001004700 CCDS31503 Q6IEV9 "MGI:3031035|MGI:3031039|MGI:3031040" RGD:1332834 OR4C11 HGNC:15167 "ENST00000641580.1|NM_001004700.3" +HGNC:15168 OR4C12 olfactory receptor family 4 subfamily C member 12 protein-coding gene gene with protein product Approved 11p11.12 11p11.12 olfactory receptor, family 4, subfamily C, member 12 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 283093 ENSG00000221954 OTTHUMG00000166687 uc010ria.2 BK004413 NM_001005270 CCDS31496 Q96R67 "MGI:3031089|MGI:3031093" RGD:1333962 OR4C12 HGNC:15168 "ENST00000335238.4|NM_001005270.4" +HGNC:15169 OR4C13 olfactory receptor family 4 subfamily C member 13 protein-coding gene gene with protein product Approved 11p11.12 11p11.12 olfactory receptor, family 4, subfamily C, member 13 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 283092 ENSG00000258817 OTTHUMG00000166686 uc010rhz.2 AB065750 NM_001001955 CCDS31495 Q8NGP0 "MGI:3031036|MGI:3031038|MGI:3031091|MGI:3031092" RGD:1334176 OR4C13 HGNC:15169 "ENST00000555099.1|NM_001001955.2" +HGNC:15170 OR4C14P olfactory receptor family 4 subfamily C member 14 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily C, member 14 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81310 ENSG00000233301 OTTHUMG00000154243 NG_004234 PGOHUM00000242715 OR4C14P HGNC:15170 +HGNC:15171 OR4C15 olfactory receptor family 4 subfamily C member 15 protein-coding gene gene with protein product Approved 11q11 11q11 olfactory receptor, family 4, subfamily C, member 15 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81309 ENSG00000181939 OTTHUMG00000166714 uc010rig.2 BK004319 NM_001001920 CCDS31501 Q8NGM1 "MGI:3031045|MGI:3031063" RGD:1333985 OR4C15 HGNC:15171 "ENST00000642128.1|NM_001001920.3" +HGNC:15172 OR4C16 olfactory receptor family 4 subfamily C member 16 protein-coding gene gene with protein product Approved 11q11 11q11 "olfactory receptor, family 4, subfamily C, member 16|olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)|olfactory receptor family 4 subfamily C member 16 (gene/pseudogene)" Olfactory receptors, family 4 151 2001-03-28 2020-05-01 2020-05-01 219428 ENSG00000279514 OTTHUMG00000165198 uc010rih.2 AB065773 NM_001004701 Q8NGL9 "MGI:3031029|MGI:3031033|MGI:3031043" RGD:1333354 OR4C16 HGNC:15172 "ENST00000623907.1|NM_001004701.2" +HGNC:31270 OR4C45 olfactory receptor family 4 subfamily C member 45 (gene/pseudogene) protein-coding gene gene with protein product Approved 11p11.12 11p11.12 olfactory receptor, family 4, subfamily C, member 45 Olfactory receptors, family 4 151 2004-02-26 2017-02-09 2020-03-24 403257 ENSG00000260811 OTTHUMG00000175623 NM_001005513 CCDS86202 A6NMZ5 "MGI:3031095|MGI:3031096|MGI:3031097" RGD:1333254 OR4C45 HGNC:31270 +HGNC:31271 OR4C46 olfactory receptor family 4 subfamily C member 46 protein-coding gene gene with protein product Approved 11q11 11q11 olfactory receptor, family 4, subfamily C, member 46 Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2016-10-05 119749 ENSG00000185926 OTTHUMG00000166705 uc010ric.2 NM_001004703 CCDS73288 A6NHA9 "MGI:3031036|MGI:3031038|MGI:3031091|MGI:3031092" RGD:1333833 614273 OR4C46 HGNC:31271 "ENST00000328188.1|NM_001004703.1" +HGNC:31272 OR4C48P olfactory receptor family 4 subfamily C member 48 pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 olfactory receptor, family 4, subfamily C, member 48 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2017-10-30 403259 ENSG00000283605 OTTHUMG00000191880 NG_004421 PGOHUM00000290925 OR4C48P HGNC:31272 +HGNC:31273 OR4C49P olfactory receptor family 4 subfamily C member 49 pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 olfactory receptor, family 4, subfamily C, member 49 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403260 ENSG00000260595 OTTHUMG00000175624 NG_004422 PGOHUM00000290478 OR4C49P HGNC:31273 +HGNC:31274 OR4C50P olfactory receptor family 4 subfamily C member 50 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily C, member 50 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2016-10-05 256190 ENSG00000237610 OTTHUMG00000154323 NG_004295 PGOHUM00000242256 OR4C50P HGNC:31274 +HGNC:8293 OR4D1 olfactory receptor family 4 subfamily D member 1 protein-coding gene gene with protein product Approved 17q22 17q22 TPCR16 OR4D3 olfactory receptor, family 4, subfamily D, member 1 Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2015-12-09 26689 ENSG00000141194 OTTHUMG00000178799 uc010wno.3 X89670 NM_001386095 CCDS42365 Q15615 9119360 MGI:3030298 RGD:1333064 OR4D1 HGNC:8293 "ENST00000268912.6|NM_001386095.1" +HGNC:8294 OR4D2 olfactory receptor family 4 subfamily D member 2 protein-coding gene gene with protein product Approved 17q22 17q22 olfactory receptor, family 4, subfamily D, member 2 Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2015-12-09 124538 ENSG00000255713 OTTHUMG00000178801 uc010wnp.2 NM_001004707 CCDS32688 P58180 "MGI:3030296|MGI:3030297" RGD:1333783 OR4D2 HGNC:8294 "ENST00000545221.2|NM_001004707.4" +HGNC:14852 OR4D5 olfactory receptor family 4 subfamily D member 5 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 olfactory receptor, family 4, subfamily D, member 5 Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 219875 ENSG00000171014 OTTHUMG00000165961 uc001pzk.2 BK004316 NM_001001965 CCDS31699 Q8NGN0 MGI:3030818 RGD:1332863 OR4D5 HGNC:14852 "ENST00000307033.3|NM_001001965.1" +HGNC:15175 OR4D6 olfactory receptor family 4 subfamily D member 6 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 4, subfamily D, member 6 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 219983 ENSG00000166884 OTTHUMG00000167340 uc010rku.3 AB065803 NM_001004708 CCDS31562 Q8NGJ1 MGI:3031262 RGD:1333601 OR4D6 HGNC:15175 "ENST00000300127.3|NM_001004708.1" +HGNC:15176 OR4D7P olfactory receptor family 4 subfamily D member 7 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 OST724 olfactory receptor, family 4, subfamily D, member 7 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81304 ENSG00000254770 OTTHUMG00000167344 NG_004233 PGOHUM00000242751 OR4D7P HGNC:15176 +HGNC:15177 OR4D8P olfactory receptor family 4 subfamily D member 8 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 4, subfamily D, member 8 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 401696 ENSG00000204989 OTTHUMG00000154282 NG_004232 PGOHUM00000242750 OR4D8P HGNC:15177 +HGNC:15178 OR4D9 olfactory receptor family 4 subfamily D member 9 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "olfactory receptor, family 4, subfamily D, member 9 pseudogene|olfactory receptor, family 4, subfamily D, member 9" Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2020-04-20 390199 ENSG00000172742 OTTHUMG00000167343 uc010rkv.2 AB065861 NM_001004711 CCDS31564 Q8NGE8 OR4D9 HGNC:15178 "ENST00000641962.1|NM_001004711.2" +HGNC:15173 OR4D10 olfactory receptor family 4 subfamily D member 10 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OST711 OR4D10P olfactory receptor, family 4, subfamily D, member 10 Olfactory receptors, family 4 151 2001-03-28 2004-03-10 2015-12-09 2015-12-09 390197 ENSG00000254466 OTTHUMG00000167341 uc001nnz.2 AB065808 NM_001004705 CCDS53636 Q8NGI6 "MGI:3031258|MGI:3031259|MGI:3031260" RGD:1333126 OR4D10 HGNC:15173 "ENST00000530162.2|NM_001004705.2" +HGNC:15174 OR4D11 olfactory receptor family 4 subfamily D member 11 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR4D11P olfactory receptor, family 4, subfamily D, member 11 Olfactory receptors, family 4 151 2001-03-28 2004-03-10 2015-12-09 2015-12-09 219986 ENSG00000176200 OTTHUMG00000167342 uc001noa.1 AB065810 NM_001004706 CCDS31563 Q8NGI4 MGI:3031257 RGD:1334346 OR4D11 HGNC:15174 "ENST00000313253.1|NM_001004706.1" +HGNC:8296 OR4E1 olfactory receptor family 4 subfamily E member 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 OR4E1P "olfactory receptor, family 4, subfamily E, member 1 pseudogene|olfactory receptor, family 4, subfamily E, member 1 (gene/pseudogene)|olfactory receptor family 4 subfamily E member 1 (gene/pseudogene)" Olfactory receptors, family 4 151 1999-12-09 2008-06-11 2020-05-01 2020-05-01 26687 ENSG00000276240 OTTHUMG00000188249 NM_001317107 CCDS86370 P0C645 MGI:3031342 RGD:1334197 PGOHUM00000292295 OR4E1P HGNC:8296 "ENST00000641792.2|NM_001317107.2" +HGNC:8297 OR4E2 olfactory receptor family 4 subfamily E member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "olfactory receptor, family 4, subfamily E, member 2|olfactory receptor family 4 subfamily E member 2 (gene/pseudogene)" Olfactory receptors, family 4 151 1999-12-09 2020-05-01 2020-05-01 26686 ENSG00000221977 OTTHUMG00000168979 uc010tmd.2 NM_001001912 CCDS41916 Q8NGC2 MGI:3031343 RGD:1334073 OR4E2 HGNC:8297 "ENST00000641524.1|NM_001001912.3" +HGNC:8298 OR4F1P olfactory receptor family 4 subfamily F member 1 pseudogene pseudogene pseudogene Approved 6p25.3 06p25.3 HSDJ0609N19 OR4F1 olfactory receptor, family 4, subfamily F, member 1 pseudogene Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2015-12-09 26685 ENSG00000220212 OTTHUMG00000014107 NG_004134 PGOHUM00000243032 OR4F1P HGNC:8298 +HGNC:8299 OR4F2P olfactory receptor family 4 subfamily F member 2 pseudogene pseudogene pseudogene Approved 11p15.5 11p15.5 "OR4F2|hs6M1-11|S191N21" olfactory receptor, family 4, subfamily F, member 2 pseudogene Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2015-12-09 390028 ENSG00000224777 OTTHUMG00000154192 NG_004259 PGOHUM00000242104 OR4F2P HGNC:8299 +HGNC:8300 OR4F3 olfactory receptor family 4 subfamily F member 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 olfactory receptor, family 4, subfamily F, member 3 Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2015-12-09 26683 ENSG00000230178 OTTHUMG00000162081 uc011dhm.3 AC004908 NM_001005224 CCDS43415 Q6IEY1 OR4F3 HGNC:8300 +HGNC:8301 OR4F4 olfactory receptor family 4 subfamily F member 4 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 OR4F18 olfactory receptor, family 4, subfamily F, member 4 Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2015-12-09 26682 ENSG00000177693 OTTHUMG00000172272 uc002cdf.2 NM_001004195 CCDS32343 Q96R69 MGI:3031123 OR4F4 HGNC:8301 +HGNC:14825 OR4F5 olfactory receptor family 4 subfamily F member 5 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 olfactory receptor, family 4, subfamily F, member 5 Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79501 ENSG00000186092 OTTHUMG00000001094 uc001aal.1 AB065592 NM_001005484 CCDS30547 Q8NH21 RGD:1566059 OR4F5 HGNC:14825 "ENST00000641515.2|NM_001005484.2" +HGNC:15372 OR4F6 olfactory receptor family 4 subfamily F member 6 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 OR4F12 "olfactory receptor, family 4, subfamily F, member 12|olfactory receptor, family 4, subfamily F, member 6" Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390648 ENSG00000184140 OTTHUMG00000172267 uc010utr.3 AC025234 NM_001005326 CCDS32341 Q8NGB9 MGI:3031144 RGD:1332734 OR4F6 HGNC:15372 "ENST00000328882.6|NM_001005326.2" +HGNC:15089 OR4F7P olfactory receptor family 4 subfamily F member 7 pseudogene pseudogene pseudogene Approved 6q27 06q27 OR4F10 olfactory receptor, family 4, subfamily F, member 7 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81390 ENSG00000217874 OTTHUMG00000016086 AC069287 NG_004682 PGOHUM00000243853 OR4F7P HGNC:15089 +HGNC:55111 OR4F8BP olfactory receptor family 4 subfamily F member 8B pseudogene pseudogene pseudogene Approved 9q34.3 09q34.3 Olfactory receptors, family 4 151 2020-07-17 2020-07-17 102724468 ENSG00000286255 32126975 PGOHUM00000304488 +HGNC:15395 OR4F8P olfactory receptor family 4 subfamily F member 8 pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 "OR4F20P|OR4F9P" olfactory receptor, family 4, subfamily F, member 8 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390872 ENSG00000266971 OTTHUMG00000180456 AC016626 NG_004359 PGOHUM00000234106 OR4F8P HGNC:15395 +HGNC:15076 OR4F13P olfactory receptor family 4 subfamily F member 13 pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 olfactory receptor, family 4, subfamily F, member 13 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390651 ENSG00000214344 OTTHUMG00000154399 "AB065564|AY792621" NR_046417 MGI:3031139 OR4F13P HGNC:15076 +HGNC:15077 OR4F14P olfactory receptor family 4 subfamily F member 14 pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 OR4F14 olfactory receptor, family 4, subfamily F, member 14 pseudogene Olfactory receptors, family 4 151 2001-03-28 2004-03-10 2015-12-09 2017-10-30 390650 ENSG00000232459 OTTHUMG00000154261 AB065901 NG_004356 PGOHUM00000293383 OR4F14P HGNC:15077 +HGNC:15078 OR4F15 olfactory receptor family 4 subfamily F member 15 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 olfactory receptor, family 4, subfamily F, member 15 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2020-02-07 390649 ENSG00000182854 OTTHUMG00000172268 uc010uts.3 BK004405 NM_001001674 CCDS32342 Q8NGB8 MGI:3031143 RGD:1333867 OR4F15 HGNC:15078 "ENST00000332238.5|NM_001001674.2" +HGNC:15079 OR4F16 olfactory receptor family 4 subfamily F member 16 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 olfactory receptor, family 4, subfamily F, member 16 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2018-02-07 81399 ENSG00000284662 OTTHUMG00000002581 uc010nxv.2 NM_001005277 CCDS41221 Q6IEY1 OR4F16 HGNC:15079 "ENST00000332831.5|NM_001005277.1" +HGNC:15381 OR4F17 olfactory receptor family 4 subfamily F member 17 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "OR4F19|OR4F11P|OR4F18" olfactory receptor, family 4, subfamily F, member 17 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2019-08-20 81099 ENSG00000176695 OTTHUMG00000180454 uc002loc.2 AC005605 NM_001005240 CCDS32854 Q8NGA8 OR4F17 HGNC:15381 "ENST00000585993.3|NM_001005240.3" +HGNC:19583 OR4F21 olfactory receptor family 4 subfamily F member 21 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 OR4F21P olfactory receptor, family 4, subfamily F, member 21 Olfactory receptors, family 4 151 2002-11-04 2004-03-10 2015-12-09 2015-12-09 441308 ENSG00000176269 OTTHUMG00000163908 uc011kwf.3 NM_001005504 CCDS34792 O95013 MGI:3031137 RGD:1333335 OR4F21 HGNC:19583 "ENST00000320901.4|NM_001005504.1" +HGNC:31229 OR4F28P olfactory receptor family 4 subfamily F member 28 pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 olfactory receptor, family 4, subfamily F, member 28 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 390652 ENSG00000257109 OTTHUMG00000172269 NG_004358 PGOHUM00000247295 OR4F28P HGNC:31229 +HGNC:31275 OR4F29 olfactory receptor family 4 subfamily F member 29 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 olfactory receptor, family 4, subfamily F, member 29 Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2018-02-07 729759 ENSG00000284733 OTTHUMG00000002860 uc010nxu.2 NM_001005221 CCDS72675 Q6IEY1 14983052 MGI:3031137 RGD:1334011 OR4F29 HGNC:31275 "ENST00000426406.4|NM_001005221.2" +HGNC:8302 OR4G1P olfactory receptor family 4 subfamily G member 1 pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 OLB OR4G8P "olfactory receptor, family 4, subfamily G, member 8 pseudogene|olfactory receptor, family 4, subfamily G, member 1 pseudogene" Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2015-12-09 26681 ENSG00000267310 OTTHUMG00000180453 NG_004133 PGOHUM00000234460 OR4G1P HGNC:8302 +HGNC:8303 OR4G2P olfactory receptor family 4 subfamily G member 2 pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 OR4G7P olfactory receptor, family 4, subfamily G, member 2 pseudogene Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2016-10-05 26680 ENSG00000183909 OTTHUMG00000154249 AF282024 NG_003201 OR4G2P HGNC:8303 +HGNC:8304 OR4G3P olfactory receptor family 4 subfamily G member 3 pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 "OLC|OLC-7501" "OR4G3|OR4G5P" olfactory receptor, family 4, subfamily G, member 3 pseudogene Olfactory receptors, family 4 151 1999-12-09 2015-12-09 2015-12-09 26679 ENSG00000282137 OTTHUMG00000180452 NG_003222 PGOHUM00000295157 OR4G3P HGNC:8304 +HGNC:14822 OR4G4P olfactory receptor family 4 subfamily G member 4 pseudogene pseudogene pseudogene Approved 1p36.33 01p36.33 olfactory receptor, family 4, subfamily G, member 4 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2017-10-30 79504 ENSG00000268020 OTTHUMG00000185779 NG_004148 PGOHUM00000296166 OR4G4P HGNC:14822 +HGNC:15039 OR4G6P olfactory receptor family 4 subfamily G member 6 pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 olfactory receptor, family 4, subfamily G, member 6 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2018-04-30 81438 ENSG00000275771 OTTHUMG00000187876 AC005604 NG_004268 PGOHUM00000246951 OR4G6P HGNC:15039 +HGNC:31276 OR4G11P olfactory receptor family 4 subfamily G member 11 pseudogene pseudogene pseudogene Approved 1p36.33 01p36.33 olfactory receptor, family 4, subfamily G, member 11 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2015-12-09 403263 ENSG00000240361 OTTHUMG00000001095 NG_004423 OR4G11P HGNC:31276 +HGNC:55112 OR4H6BP olfactory receptor family 4 subfamily H member 6B pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 Olfactory receptors, family 4 151 2020-07-17 2020-07-17 105370722 ENSG00000285116 32126975 PGOHUM00000293115 +HGNC:8312 OR4H6P olfactory receptor family 4 subfamily H member 6 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 "OR15-71|OR4H6|OR15-82|OR4H9|OR5-39|OR5-84|OR4-114|OR4-115|OR4-119|OR15-69|OR15-80|OR15-81|OR14-58" "OR4H9P|OR4H10P|OR4H5P|OR4H11P|OR4H5|OR4H7|OR4H7P|OR4H2P|OR4H3P|OR4H11|OR4H2|OR4H3|OR4H1P|OR4H4P|OR4H10|OR4H4|OR4H8P|OR4H8" "olfactory receptor, family 4, subfamily H, member 8 pseudogene|olfactory receptor, family 4, subfamily H, member 6 pseudogene" Olfactory receptors, family 4 151 1999-11-25 2015-12-09 2018-04-30 26322 ENSG00000284892 OTTHUMG00000172787 U86230 NG_002185 9500546 PGOHUM00000261870 OR4H6P HGNC:8312 +HGNC:19433 OR4H12P olfactory receptor family 4 subfamily H member 12 pseudogene pseudogene pseudogene Approved 14p13 14p13 C14orf14 OR4H12 olfactory receptor, family 4, subfamily H, member 12 pseudogene Olfactory receptors, family 4 151 2002-11-04 2004-03-10 2015-12-09 2015-12-09 161271 ENSG00000176312 OTTHUMG00000170613 NG_004089 OR4H12P HGNC:19433 +HGNC:14726 OR4K1 olfactory receptor family 4 subfamily K member 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily K, member 1 Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79544 ENSG00000155249 OTTHUMG00000170633 uc001vwj.2 NM_001004063 CCDS32025 Q8NGD4 MGI:3030562 RGD:1333529 OR4K1 HGNC:14726 "ENST00000641172.1|NM_001004063.3" +HGNC:14728 OR4K2 olfactory receptor family 4 subfamily K member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily K, member 2 Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 390431 ENSG00000165762 OTTHUMG00000170624 uc001vwh.2 NM_001005501 CCDS32023 Q8NGD2 MGI:3030564 RGD:1333964 OR4K2 HGNC:14728 "ENST00000641885.1|NM_001005501.2" +HGNC:14731 OR4K3 olfactory receptor family 4 subfamily K member 3 (gene/pseudogene) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 OR4K3P "olfactory receptor, family 4, subfamily K, member 3 pseudogene|olfactory receptor, family 4, subfamily K, member 3 (gene/pseudogene)" Olfactory receptors, family 4 151 2001-02-28 2008-01-23 2015-12-09 2015-12-09 283617 ENSG00000176290 OTTHUMG00000154257 NR_145507 Q96R72 PGOHUM00000247725 OR4K3P HGNC:14731 +HGNC:14744 OR4K4P olfactory receptor family 4 subfamily K member 4 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily K, member 4 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79318 ENSG00000258541 OTTHUMG00000170625 NG_002242 PGOHUM00000248035 OR4K4P HGNC:14744 +HGNC:14745 OR4K5 olfactory receptor family 4 subfamily K member 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily K, member 5 Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2020-02-07 79317 ENSG00000176281 OTTHUMG00000170627 uc010tkw.3 BK004355 NM_001005483 CCDS32024 Q8NGD3 14983052 MGI:3030563 RGD:1334248 OR4K5 HGNC:14745 "ENST00000315915.5|NM_001005483.1" +HGNC:14748 OR4K6P olfactory receptor family 4 subfamily K member 6 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily K, member 6 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79314 ENSG00000228304 OTTHUMG00000170623 NG_002240 PGOHUM00000248034 OR4K6P HGNC:14748 +HGNC:14756 OR4K7P olfactory receptor family 4 subfamily K member 7 pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 OR4K10P olfactory receptor, family 4, subfamily K, member 7 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79306 ENSG00000265340 OTTHUMG00000178702 AC013659 NG_002235 PGOHUM00000235022 OR4K7P HGNC:14756 +HGNC:14787 OR4K8P olfactory receptor family 4 subfamily K member 8 pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 OR4K9P olfactory receptor, family 4, subfamily K, member 8 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 390836 ENSG00000266693 OTTHUMG00000178703 AC015480 NG_002222 PGOHUM00000235023 OR4K8P HGNC:14787 +HGNC:15402 OR4K11P olfactory receptor family 4 subfamily K member 11 pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 OR21-1 olfactory receptor, family 4, subfamily K, member 11 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81079 ENSG00000179381 OTTHUMG00000074202 AF546490 NG_004161 12644552 PGOHUM00000239016 OR4K11P HGNC:15402 +HGNC:15403 OR4K12P olfactory receptor family 4 subfamily K member 12 pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 OR21-2 olfactory receptor, family 4, subfamily K, member 12 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2016-10-05 81078 ENSG00000218549 OTTHUMG00000074203 NG_004160 PGOHUM00000239017 OR4K12P HGNC:15403 +HGNC:15351 OR4K13 olfactory receptor family 4 subfamily K member 13 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily K, member 13 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390433 ENSG00000176253 OTTHUMG00000170781 uc010tkz.3 NM_001004714 CCDS32028 Q8NH42 OR4K13 HGNC:15351 "ENST00000641904.1|NM_001004714.2" +HGNC:15352 OR4K14 olfactory receptor family 4 subfamily K member 14 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily K, member 14 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 122740 ENSG00000169484 OTTHUMG00000170780 uc010tky.3 NM_001004712 CCDS32027 Q8NGD5 OR4K14 HGNC:15352 "ENST00000641793.1|NM_001004712.2" +HGNC:15353 OR4K15 olfactory receptor family 4 subfamily K member 15 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 OR4K15Q olfactory receptor, family 4, subfamily K, member 15 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81127 ENSG00000169488 OTTHUMG00000170635 uc010tkx.3 NM_001005486 CCDS32026 Q8NH41 "MGI:3030559|MGI:3030560|MGI:3030561" RGD:1334431 OR4K15 HGNC:15353 "ENST00000305051.6|NM_001005486.2" +HGNC:15354 OR4K16P olfactory receptor family 4 subfamily K member 16 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily K, member 16 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81126 ENSG00000258822 OTTHUMG00000170634 NG_004172 PGOHUM00000248036 OR4K16P HGNC:15354 +HGNC:15355 OR4K17 olfactory receptor family 4 subfamily K member 17 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily K, member 17 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390436 ENSG00000176230 OTTHUMG00000170783 uc001vwo.1 NM_001004715 CCDS32030 Q8NGC6 OR4K17 HGNC:15355 "ENST00000641386.2|NM_001004715.5" +HGNC:15356 OR4L1 olfactory receptor family 4 subfamily L member 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 OR4L2P "olfactory receptor, family 4, subfamily L, member 1|olfactory receptor family 4 subfamily L member 1 (gene/pseudogene)" Olfactory receptors, family 4 151 2001-03-28 2020-05-01 2020-05-01 122742 ENSG00000176246 OTTHUMG00000169492 uc001vwn.1 NM_001004717 CCDS32029 Q8NH43 MGI:3030557 RGD:1332610 OR4L1 HGNC:15356 "ENST00000315683.1|NM_001004717.1" +HGNC:14735 OR4M1 olfactory receptor family 4 subfamily M member 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily M, member 1 Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 441670 ENSG00000176299 OTTHUMG00000170599 uc010tku.3 NM_001005500 CCDS32021 Q8NGD0 MGI:3030568 RGD:1333393 OR4M1 HGNC:14735 "ENST00000641200.1|NM_001005500.2" HGNC:14735 +HGNC:15373 OR4M2 olfactory receptor family 4 subfamily M member 2 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 olfactory receptor, family 4, subfamily M, member 2 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390538 ENSG00000274102 OTTHUMG00000171738 uc010tzu.3 AC060768 NM_001004719 CCDS32172 Q8NGB6 MGI:3030568 OR4M2 HGNC:15373 "ENST00000614722.3|NM_001004719.2" +HGNC:56199 OR4M2-OT1 OR4M2 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 Overlapping transcripts 1988 2022-02-02 2022-02-02 101927079 ENSG00000285472 NR_110480 +HGNC:55109 OR4M2B olfactory receptor family 4 subfamily M member 2B protein-coding gene gene with protein product Approved 15q11.2 15q11.2 Olfactory receptors, family 4 151 2020-07-17 2020-07-17 118568804 ENSG00000182974 OTTHUMG00000189317 NM_001395296 A0A0X1KG70 32126975 +HGNC:14740 OR4N1P olfactory receptor family 4 subfamily N member 1 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily N, member 1 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79322 ENSG00000258564 OTTHUMG00000154362 NG_002243 PGOHUM00000248033 OR4N1P HGNC:14740 +HGNC:14742 OR4N2 olfactory receptor family 4 subfamily N member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily N, member 2 Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2020-02-07 390429 ENSG00000176294 OTTHUMG00000170614 uc010tkv.2 NM_001004723 CCDS32022 Q8NGD1 "MGI:3030566|MGI:3030567" OR4N2 HGNC:14742 "ENST00000557677.3|NM_001004723.3" +HGNC:55116 OR4N3BP olfactory receptor family 4 subfamily N member 3B pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 Olfactory receptors, family 4 151 2020-07-17 2020-07-17 118568823 ENSG00000279445 32126975 PGOHUM00000293116 +HGNC:15374 OR4N3P olfactory receptor family 4 subfamily N member 3 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 olfactory receptor, family 4, subfamily N, member 3 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390539 ENSG00000259435 OTTHUMG00000172278 AI809240 NR_028067 PGOHUM00000293120 OR4N3P HGNC:15374 +HGNC:15375 OR4N4 olfactory receptor family 4 subfamily N member 4 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 olfactory receptor, family 4, subfamily N, member 4 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 283694 ENSG00000183706 OTTHUMG00000171739 uc010tzv.3 AI018459 NM_001005241 CCDS32173 Q8N0Y3 "MGI:3030566|MGI:3030567" RGD:1333578 OR4N4 HGNC:15375 +HGNC:55110 OR4N4C olfactory receptor family 4 subfamily N member 4C protein-coding gene gene with protein product Approved 15q11.2 15q11.2 Olfactory receptors, family 4 151 2020-07-17 2020-07-17 105369274 ENSG00000279408 NM_001365389 A0A096LPK9 32126975 +HGNC:15358 OR4N5 olfactory receptor family 4 subfamily N member 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily N, member 5 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390437 ENSG00000184394 OTTHUMG00000170784 uc010tla.2 NM_001004724 CCDS32031 Q8IXE1 MGI:3030556 RGD:1334059 OR4N5 HGNC:15358 "ENST00000641086.1|NM_001004724.2" +HGNC:14754 OR4P1P olfactory receptor family 4 subfamily P member 1 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily P, member 1 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79308 ENSG00000188439 OTTHUMG00000166802 NG_002236 PGOHUM00000257883 OR4P1P HGNC:14754 +HGNC:15180 OR4P4 olfactory receptor family 4 subfamily P member 4 protein-coding gene gene with protein product Approved 11q11 11q11 OR4P3P olfactory receptor, family 4, subfamily P, member 4 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81300 ENSG00000181927 OTTHUMG00000165300 uc010rij.2 AB065775 NM_001004124 CCDS31504 Q8NGL7 MGI:3031014 RGD:1333456 OR4P4 HGNC:15180 +HGNC:15376 OR4Q1P olfactory receptor family 4 subfamily Q member 1 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 olfactory receptor, family 4, subfamily Q, member 1 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2018-04-30 81104 ENSG00000285135 OTTHUMG00000171737 NG_004162 PGOHUM00000293118 OR4Q1P HGNC:15376 +HGNC:15359 OR4Q2 olfactory receptor family 4 subfamily Q member 2 (gene/pseudogene) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 OR4Q2P "olfactory receptor, family 4, subfamily Q, member 2 pseudogene|olfactory receptor, family 4, subfamily Q, member 2 (gene/pseudogene)" Olfactory receptors, family 4 151 2001-03-28 2008-06-11 2015-12-09 2015-12-09 390432 ENSG00000196383 OTTHUMG00000168643 uc058yqw.1 NM_001348271 P0C623 OR4Q2P HGNC:15359 +HGNC:15426 OR4Q3 olfactory receptor family 4 subfamily Q member 3 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 C14orf13 OR4Q4 olfactory receptor, family 4, subfamily Q, member 3 Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2020-02-07 441669 ENSG00000182652 OTTHUMG00000170612 uc010tkt.2 AF179768 NM_172194 CCDS32020 Q8NH05 MGI:3030569 RGD:1561412 OR4Q3 HGNC:15426 +HGNC:14798 OR4R1P olfactory receptor family 4 subfamily R member 1 pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily R, member 1 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79528 ENSG00000255215 OTTHUMG00000166636 NG_002265 PGOHUM00000242227 OR4R1P HGNC:14798 +HGNC:15181 OR4R2P olfactory receptor family 4 subfamily R member 2 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily R, member 2 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2016-10-05 81299 ENSG00000255560 OTTHUMG00000166703 NG_004231 PGOHUM00000242702 OR4R2P HGNC:15181 +HGNC:15182 OR4R3P olfactory receptor family 4 subfamily R member 3 pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 olfactory receptor, family 4, subfamily R, member 3 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81298 ENSG00000254624 OTTHUMG00000166685 NG_004230 PGOHUM00000242697 OR4R3P HGNC:15182 +HGNC:14705 OR4S1 olfactory receptor family 4 subfamily S member 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 olfactory receptor, family 4, subfamily S, member 1 Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 256148 ENSG00000176555 OTTHUMG00000166578 uc010rhu.2 AB065908 NM_001004725 CCDS31488 Q8NGB4 RGD:1334088 OR4S1 HGNC:14705 "ENST00000319988.1|NM_001004725.1" +HGNC:15183 OR4S2 olfactory receptor family 4 subfamily S member 2 protein-coding gene gene with protein product Approved 11q11 11q11 OST725 OR4S2P "olfactory receptor, family 4, subfamily S, member 2 pseudogene|olfactory receptor, family 4, subfamily S, member 2" Olfactory receptors, family 4 151 2001-03-28 2002-11-15 2015-12-09 2015-12-09 219431 ENSG00000174982 OTTHUMG00000166799 uc001nhs.1 BK004390 NM_001004059 CCDS31505 Q8NH73 MGI:3031027 RGD:1333439 OR4S2 HGNC:15183 "ENST00000641692.1|NM_001004059.3" +HGNC:15360 OR4T1P olfactory receptor family 4 subfamily T member 1 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily T, member 1 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390435 ENSG00000258641 OTTHUMG00000170782 NG_004351 PGOHUM00000248038 OR4T1P HGNC:15360 +HGNC:15361 OR4U1P olfactory receptor family 4 subfamily U member 1 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 4, subfamily U, member 1 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 390434 ENSG00000258899 OTTHUMG00000170636 NG_004350 PGOHUM00000248037 OR4U1P HGNC:15361 +HGNC:14736 OR4V1P olfactory receptor family 4 subfamily V member 1 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily V, member 1 pseudogene Olfactory receptors, family 4 151 2001-02-28 2015-12-09 2015-12-09 79534 ENSG00000254841 OTTHUMG00000166801 NG_002270 PGOHUM00000242716 OR4V1P HGNC:14736 +HGNC:15405 OR4W1P olfactory receptor family 4 subfamily W member 1 pseudogene pseudogene pseudogene Approved Xq25 Xq25 olfactory receptor, family 4, subfamily W, member 1 pseudogene Olfactory receptors, family 4 151 2001-03-28 2015-12-09 2015-12-09 81077 Z69908 NG_004159 PGOHUM00000241532 OR4W1P HGNC:15405 +HGNC:14854 OR4X1 olfactory receptor family 4 subfamily X member 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "olfactory receptor, family 4, subfamily X, member 1|olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)|olfactory receptor family 4 subfamily X member 1 (gene/pseudogene)" Olfactory receptors, family 4 151 2001-02-28 2020-05-01 2020-05-01 390113 ENSG00000176567 OTTHUMG00000165301 uc010rht.2 AB065544 NM_001004726 CCDS31487 Q8NH49 RGD:1332801 OR4X1 HGNC:14854 "ENST00000320048.1|NM_001004726.1" +HGNC:15184 OR4X2 olfactory receptor family 4 subfamily X member 2 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "olfactory receptor, family 4, subfamily X, member 2 (gene/pseudogene)|olfactory receptor family 4 subfamily X member 2 (gene/pseudogene)" Olfactory receptors, family 4 151 2001-03-28 2020-05-01 2020-05-01 119764 ENSG00000172208 OTTHUMG00000165302 uc058biw.1 AB065847 NM_001004727 Q8NGF9 "MGI:3031099|MGI:3031103|MGI:3031108|MGI:3031340" RGD:1333493 OR4X2 HGNC:15184 "ENST00000624868.2|NM_001004727.1" +HGNC:31277 OR4X7P olfactory receptor family 4 subfamily X member 7 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 4, subfamily X, member 7 pseudogene Olfactory receptors, family 4 151 2004-02-26 2015-12-09 2017-10-30 403264 ENSG00000255077 OTTHUMG00000166777 NG_005820 HGNC:31277 +HGNC:8319 OR5A1 olfactory receptor family 5 subfamily A member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OST181 OR5A1P olfactory receptor, family 5, subfamily A, member 1 Olfactory receptors, family 5 152 1999-12-09 2015-12-09 2015-12-09 219982 ENSG00000172320 OTTHUMG00000167339 uc001nnx.2 AB065804 NM_001004728 CCDS31561 Q8NGJ0 MGI:2153205 RGD:1333796 OR5A1 HGNC:8319 "ENST00000641045.1|NM_001004728.2" +HGNC:15249 OR5A2 olfactory receptor family 5 subfamily A member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily A, member 2 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 219981 ENSG00000172324 OTTHUMG00000167419 uc010rkt.3 AB065805 NM_001001954 CCDS31560 Q8NGI9 RGD:1333575 OR5A2 HGNC:15249 "ENST00000302040.6|NM_001001954.2" +HGNC:15047 OR5AC1 olfactory receptor family 5 subfamily AC member 1 (gene/pseudogene) protein-coding gene gene with protein product Approved 3q11.2 03q11.2 OR5AC1P "olfactory receptor, family 5, subfamily AC, member 1 pseudogene|olfactory receptor, family 5, subfamily AC, member 1 (gene/pseudogene)" Olfactory receptors, family 5 152 2001-03-28 2008-06-11 2015-12-09 2015-12-09 81431 ENSG00000213439 OTTHUMG00000154300 uc062luw.1 NG_004267 P0C628 "MGI:3030032|MGI:3030033|MGI:3030035|MGI:3030036" RGD:1334226 OR5AC1P HGNC:15047 +HGNC:15431 OR5AC2 olfactory receptor family 5 subfamily AC member 2 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 HSA1 olfactory receptor, family 5, subfamily AC, member 2 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81050 ENSG00000196578 OTTHUMG00000160083 uc011bgs.2 AF179759 NM_054106 CCDS33796 Q9NZP5 RGD:1333853 OR5AC2 HGNC:15431 "ENST00000358642.2|NM_054106.1" +HGNC:31284 OR5AC4P olfactory receptor family 5 subfamily AC member 4 pseudogene pseudogene pseudogene Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily AC, member 4 pseudogene Olfactory receptors, family 5 152 2004-02-26 2015-12-09 2015-12-09 403271 ENSG00000251090 OTTHUMG00000160069 NG_004426 PGOHUM00000238105 OR5AC4P HGNC:31284 +HGNC:14714 OR5AH1P olfactory receptor family 5 subfamily AH member 1 pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 olfactory receptor, family 5, subfamily AH, member 1 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79336 ENSG00000268067 OTTHUMG00000182169 AC006115 NG_002357 PGOHUM00000234806 OR5AH1P HGNC:14714 +HGNC:15250 OR5AK1P olfactory receptor family 5 subfamily AK member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 OR5AK5P olfactory receptor, family 5, subfamily AK, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81230 ENSG00000255083 OTTHUMG00000167020 NG_004213 PGOHUM00000242735 OR5AK1P HGNC:15250 +HGNC:15251 OR5AK2 olfactory receptor family 5 subfamily AK member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AK, member 2 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2016-10-05 390181 ENSG00000181273 OTTHUMG00000167019 uc010rjp.3 AB065496 NM_001005323 CCDS31538 Q8NH90 "MGI:3030827|MGI:3030828|MGI:3030829" RGD:1333144 OR5AK2 HGNC:15251 "ENST00000326855.3|NM_001005323.1" +HGNC:15252 OR5AK3P olfactory receptor family 5 subfamily AK member 3 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 OR5AK3 olfactory receptor, family 5, subfamily AK, member 3 pseudogene Olfactory receptors, family 5 152 2001-03-28 2004-03-10 2015-12-09 2015-12-09 81228 ENSG00000181282 OTTHUMG00000167018 NG_004212 Q8NH89 MGI:3030829 PGOHUM00000257888 OR5AK3P HGNC:15252 +HGNC:15253 OR5AK4P olfactory receptor family 5 subfamily AK member 4 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AK, member 4 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2018-02-07 219525 ENSG00000283307 OTTHUMG00000154396 NR_036445 PGOHUM00000290975 OR5AK4P HGNC:15253 +HGNC:14844 OR5AL1 olfactory receptor family 5 subfamily AL member 1 (gene/pseudogene) protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR5AL1P "olfactory receptor, family 5, subfamily AL, member 1 pseudogene|olfactory receptor, family 5, subfamily AL, member 1 (gene/pseudogene)" Olfactory receptors, family 5 152 2001-02-28 2008-06-11 2015-12-09 2017-11-08 79482 ENSG00000272987 OTTHUMG00000154218 uc058bkd.1 NM_001348230 P0C617 MGI:3030876 RGD:1334269 PGOHUM00000242728 OR5AL1P HGNC:14844 +HGNC:14850 OR5AL2P olfactory receptor family 5 subfamily AL member 2 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AL, member 2 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79476 ENSG00000255466 OTTHUMG00000166872 NG_004143 PGOHUM00000242727 OR5AL2P HGNC:14850 +HGNC:15254 OR5AM1P olfactory receptor family 5 subfamily AM member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AM, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81226 ENSG00000255172 OTTHUMG00000186005 NG_004211 PGOHUM00000242280 OR5AM1P HGNC:15254 +HGNC:15255 OR5AN1 olfactory receptor family 5 subfamily AN member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AN, member 1 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 390195 ENSG00000176495 OTTHUMG00000167337 uc010rks.3 AB065806 NM_001004729 CCDS31559 Q8NGI8 "MGI:3030096|MGI:3031271" RGD:1334070 615702 OR5AN1 HGNC:15255 "ENST00000641998.1|NM_001004729.2" +HGNC:15256 OR5AN2P olfactory receptor family 5 subfamily AN member 2 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AN, member 2 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81224 ENSG00000235678 OTTHUMG00000167417 NG_004210 PGOHUM00000257829 OR5AN2P HGNC:15256 +HGNC:31285 OR5AO1P olfactory receptor family 5 subfamily AO member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AO, member 1 pseudogene Olfactory receptors, family 5 152 2004-02-26 2015-12-09 2017-10-30 403272 ENSG00000272676 OTTHUMG00000186007 NG_004427 PGOHUM00000290976 OR5AO1P HGNC:31285 +HGNC:15257 OR5AP1P olfactory receptor family 5 subfamily AP member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AP, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81223 ENSG00000254795 OTTHUMG00000166864 NG_004209 PGOHUM00000242281 OR5AP1P HGNC:15257 +HGNC:15258 OR5AP2 olfactory receptor family 5 subfamily AP member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AP, member 2 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2016-10-05 338675 ENSG00000172464 OTTHUMG00000166865 uc001njb.1 AB065854 NM_001002925 CCDS31534 Q8NGF4 MGI:3030854 RGD:1333086 OR5AP2 HGNC:15258 "ENST00000544374.3|NM_001002925.1" +HGNC:15259 OR5AQ1P olfactory receptor family 5 subfamily AQ member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AQ, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81221 ENSG00000184741 OTTHUMG00000166838 NG_004208 PGOHUM00000257886 OR5AQ1P HGNC:15259 +HGNC:15260 OR5AR1 olfactory receptor family 5 subfamily AR member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "olfactory receptor, family 5, subfamily AR, member 1|olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)|olfactory receptor family 5 subfamily AR member 1 (gene/pseudogene)" Olfactory receptors, family 5 152 2001-03-28 2020-05-01 2020-05-01 219493 ENSG00000172459 OTTHUMG00000154213 uc058bki.1 AB065740 NM_001004730 Q8NGP9 MGI:3030853 RGD:1333623 OR5AR1 HGNC:15260 "ENST00000624596.2|NM_001004730.1" +HGNC:15261 OR5AS1 olfactory receptor family 5 subfamily AS member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AS, member 1 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2016-10-05 219447 ENSG00000181785 OTTHUMG00000166830 uc010riw.2 AB065543 NM_001001921 CCDS31516 Q8N127 MGI:3030945 RGD:1333932 OR5AS1 HGNC:15261 "ENST00000641320.1|NM_001001921.2" +HGNC:15362 OR5AU1 olfactory receptor family 5 subfamily AU member 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 5, subfamily AU, member 1 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 390445 ENSG00000169327 OTTHUMG00000170753 uc010tlp.3 AL157687 NM_001004731 CCDS32042 Q8NGC0 MGI:3030055 RGD:1333383 OR5AU1 HGNC:15362 "ENST00000304418.5|NM_001004731.3" +HGNC:15406 OR5AW1P olfactory receptor family 5 subfamily AW member 1 pseudogene pseudogene pseudogene Approved Xq26.2 Xq26.2 olfactory receptor, family 5, subfamily AW, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81076 ENSG00000229082 OTTHUMG00000153220 NG_004158 PGOHUM00000241543 OR5AW1P HGNC:15406 +HGNC:15262 OR5AZ1P olfactory receptor family 5 subfamily AZ member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily AZ, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 283193 ENSG00000180714 OTTHUMG00000167564 AP000743 NG_004207 PGOHUM00000257828 OR5AZ1P HGNC:15262 +HGNC:8322 OR5B1P olfactory receptor family 5 subfamily B member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 "OR8-122|OR8-123|OR6-57|OR6-55|OR3-144|OR912-92" "OR5B9P|OR5B9|OR5B5P|OR5B14P|OR5B7P|OR5B7|OR5B8|OR5B8P|OR5B5|OR5B6|OR5B6P" olfactory receptor, family 5, subfamily B, member 1 pseudogene Olfactory receptors, family 5 152 1999-11-25 2015-12-09 2017-10-30 401692 ENSG00000233499 OTTHUMG00000154286 U86283 NG_002305 9500546 PGOHUM00000290533 OR5B1P HGNC:8322 +HGNC:8323 OR5B2 olfactory receptor family 5 subfamily B member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OST073 olfactory receptor, family 5, subfamily B, member 2 Olfactory receptors, family 5 152 1999-12-09 2015-12-09 2015-12-09 390190 ENSG00000172365 OTTHUMG00000167517 uc010rkg.2 AB065852 NM_001005566 CCDS31550 Q96R09 MGI:3031285 RGD:1333625 OR5B2 HGNC:8323 "ENST00000641342.2|NM_001005566.3" +HGNC:8324 OR5B3 olfactory receptor family 5 subfamily B member 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OST129 OR5B13 olfactory receptor, family 5, subfamily B, member 3 Olfactory receptors, family 5 152 1999-12-09 2015-12-09 2015-12-09 441608 ENSG00000172769 OTTHUMG00000167516 uc010rkf.3 AB065545 NM_001005469 CCDS31549 Q8NH48 MGI:3031303 OR5B3 HGNC:8324 "ENST00000641865.1|NM_001005469.2" +HGNC:8320 OR5B10P olfactory receptor family 5 subfamily B member 10 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 "OR13-67|OR13-34|OR13-64" "OR5B11P|OR5B4P|OR5B10|OR5B11|OR5B18P" olfactory receptor, family 5, subfamily B, member 10 pseudogene Olfactory receptors, family 5 152 1999-11-25 2015-12-09 2015-12-09 390186 ENSG00000255096 OTTHUMG00000167554 U86223 NG_002306 9500546 PGOHUM00000242300 OR5B10P HGNC:8320 +HGNC:15432 OR5B12 olfactory receptor family 5 subfamily B member 12 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OST743 "OR5B12P|OR5B16" olfactory receptor, family 5, subfamily B, member 12 Olfactory receptors, family 5 152 2001-03-28 2004-03-10 2015-12-09 2015-12-09 390191 ENSG00000172362 OTTHUMG00000167543 uc010rkh.2 AB065851 NM_001004733 CCDS31551 Q96R08 12213199 "MGI:3031279|MGI:3031282" RGD:1334063 OR5B12 HGNC:15432 "ENST00000641921.2|NM_001004733.3" +HGNC:15265 OR5B15P olfactory receptor family 5 subfamily B member 15 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily B, member 15 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2017-10-30 81215 ENSG00000273408 OTTHUMG00000186074 NG_004206 PGOHUM00000290534 OR5B15P HGNC:15265 +HGNC:15267 OR5B17 olfactory receptor family 5 subfamily B member 17 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR5B20P olfactory receptor, family 5, subfamily B, member 17 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 219965 ENSG00000197786 OTTHUMG00000167465 uc010rke.3 AB065849 NM_001005489 CCDS31548 Q8NGF7 RGD:1590072 OR5B17 HGNC:15267 "ENST00000357377.3|NM_001005489.2" +HGNC:15269 OR5B19P olfactory receptor family 5 subfamily B member 19 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily B, member 19 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81211 ENSG00000255431 OTTHUMG00000167553 NG_004205 PGOHUM00000242299 OR5B19P HGNC:15269 +HGNC:19616 OR5B21 olfactory receptor family 5 subfamily B member 21 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily B, member 21 Olfactory receptors, family 5 152 2002-11-04 2015-12-09 2015-12-09 219968 ENSG00000198283 OTTHUMG00000167519 uc010rki.3 NM_001005218 CCDS31552 A6NL26 MGI:3031278 RGD:1334091 OR5B21 HGNC:19616 "ENST00000360374.3|NM_001005218.3" +HGNC:15270 OR5BA1P olfactory receptor family 5 subfamily BA member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily BA, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81210 ENSG00000255303 OTTHUMG00000167385 NG_004204 PGOHUM00000242290 OR5BA1P HGNC:15270 +HGNC:15271 OR5BB1P olfactory receptor family 5 subfamily BB member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily BB, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81209 ENSG00000198261 OTTHUMG00000167338 NG_004203 PGOHUM00000257832 OR5BB1P HGNC:15271 +HGNC:15272 OR5BC1P olfactory receptor family 5 subfamily BC member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily BC, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81208 ENSG00000255218 OTTHUMG00000167552 NG_004202 PGOHUM00000242298 OR5BC1P HGNC:15272 +HGNC:14843 OR5BD1P olfactory receptor family 5 subfamily BD member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily BD, member 1 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79483 ENSG00000254749 OTTHUMG00000167565 NG_002253 PGOHUM00000242292 OR5BD1P HGNC:14843 +HGNC:15273 OR5BE1P olfactory receptor family 5 subfamily BE member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily BE, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81207 ENSG00000225538 OTTHUMG00000154221 NG_004201 PGOHUM00000242722 OR5BE1P HGNC:15273 +HGNC:15407 OR5BH1P olfactory receptor family 5 subfamily BH member 1 pseudogene pseudogene pseudogene Approved Xq26.2 Xq26.2 OR5BH2P olfactory receptor, family 5, subfamily BH, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81075 ENSG00000242610 OTTHUMG00000022407 NG_004157 PGOHUM00000250059 OR5BH1P HGNC:15407 +HGNC:15434 OR5BJ1P olfactory receptor family 5 subfamily BJ member 1 pseudogene pseudogene pseudogene Approved 12q13.11 12q13.11 OST740 olfactory receptor, family 5, subfamily BJ, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2017-10-30 81047 ENSG00000257792 OTTHUMG00000170018 NG_004156 PGOHUM00000291330 OR5BJ1P HGNC:15434 +HGNC:14817 OR5BK1P olfactory receptor family 5 subfamily BK member 1 pseudogene pseudogene pseudogene Approved 12q13.11 12q13.11 olfactory receptor, family 5, subfamily BK, member 1 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 401718 ENSG00000257763 OTTHUMG00000170016 NG_004391 PGOHUM00000239442 OR5BK1P HGNC:14817 +HGNC:15275 OR5BL1P olfactory receptor family 5 subfamily BL member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily BL, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2017-10-30 81205 ENSG00000272569 OTTHUMG00000186072 NG_004200 OR5BL1P HGNC:15275 +HGNC:14835 OR5BM1P olfactory receptor family 5 subfamily BM member 1 pseudogene pseudogene pseudogene Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily BM, member 1 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79491 ENSG00000250750 OTTHUMG00000160086 AC026100 NG_004145 PGOHUM00000238103 OR5BM1P HGNC:14835 +HGNC:15276 OR5BN1P olfactory receptor family 5 subfamily BN member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily BN, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81204 ENSG00000254848 OTTHUMG00000166841 NG_004199 OR5BN1P HGNC:15276 +HGNC:29194 OR5BN2P olfactory receptor family 5 subfamily BN member 2 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily BN, member 2 pseudogene Olfactory receptors, family 5 152 2005-03-07 2015-12-09 2017-10-30 504181 ENSG00000255140 OTTHUMG00000166840 NG_004864 OR5BN2P HGNC:29194 +HGNC:15277 OR5BP1P olfactory receptor family 5 subfamily BP member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily BP, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2017-10-30 81203 ENSG00000273255 OTTHUMG00000186008 AP001074 NG_004198 PGOHUM00000290977 OR5BP1P HGNC:15277 +HGNC:15278 OR5BQ1P olfactory receptor family 5 subfamily BQ member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 OR5BQ2P olfactory receptor, family 5, subfamily BQ, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2017-10-30 81202 ENSG00000273228 OTTHUMG00000186006 NG_004197 PGOHUM00000290974 OR5BQ1P HGNC:15278 +HGNC:15279 OR5BR1P olfactory receptor family 5 subfamily BR member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily BR, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81201 ENSG00000255386 OTTHUMG00000167418 NG_004196 OR5BR1P HGNC:15279 +HGNC:19627 OR5BS1P olfactory receptor family 5 subfamily BS member 1 pseudogene pseudogene pseudogene Approved 12q13.11 12q13.11 OR5BS1 olfactory receptor, family 5, subfamily BS, member 1 pseudogene Olfactory receptors, family 5 152 2002-11-04 2004-03-10 2015-12-09 2017-10-30 390313 ENSG00000198678 OTTHUMG00000170390 NG_004343 PGOHUM00000291647 OR5BS1P HGNC:19627 +HGNC:19629 OR5BT1P olfactory receptor family 5 subfamily BT member 1 pseudogene pseudogene pseudogene Approved 12q13.11 12q13.11 olfactory receptor, family 5, subfamily BT, member 1 pseudogene Olfactory receptors, family 5 152 2002-11-04 2015-12-09 2017-10-30 282790 ENSG00000258024 OTTHUMG00000170017 NG_004300 PGOHUM00000291329 OR5BT1P HGNC:19629 +HGNC:8331 OR5C1 olfactory receptor family 5 subfamily C member 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "OR9-F|hRPK-465_F_21" OR5C2P olfactory receptor, family 5, subfamily C, member 1 Olfactory receptors, family 5 152 1999-12-09 2015-12-09 2016-10-05 392391 ENSG00000148215 OTTHUMG00000020622 uc011lzd.2 AF399514 NM_001001923 CCDS35131 Q8NGR4 MGI:3030202 RGD:1333139 OR5C1 HGNC:8331 "ENST00000373680.3|NM_001001923.1" +HGNC:8335 OR5D2P olfactory receptor family 5 subfamily D member 2 pseudogene pseudogene pseudogene Approved 11q11 11q11 "OR11-7a|OR912-91|OR8-127|OR912-47|OR18-44|R5D9P|OR18-17|OR18-42|OR18-43|OR912-94|OR8-125" "OR5D6P|OR5D10P|OR5D1P|OR5D5P|OR5D12P|OR5D8P|OR5D7P|OR5D9P|OR5D12|OR5D11P|OR5D11" "olfactory receptor, family 5, subfamily D, member 11 pseudogene|olfactory receptor, family 5, subfamily D, member 2 pseudogene" Olfactory receptors, family 5 152 1998-11-09 2015-12-09 2015-12-09 8595 ENSG00000254457 OTTHUMG00000166804 AF065858 NG_002277 "9787077|9500546" PGOHUM00000242717 OR5D2P HGNC:8335 +HGNC:8336 OR5D3P olfactory receptor family 5 subfamily D member 3 pseudogene pseudogene pseudogene Approved 11q11 11q11 "OR11-8b|OR11-8c" "OR5D3|OR5D4" olfactory receptor, family 5, subfamily D, member 3 pseudogene Olfactory receptors, family 5 152 2001-02-08 2015-12-09 2018-04-27 8594 ENSG00000186886 OTTHUMG00000166805 AF065861 NM_001396059 PGOHUM00000290951 OR5D3P HGNC:8336 +HGNC:15280 OR5D13 olfactory receptor family 5 subfamily D member 13 protein-coding gene gene with protein product Approved 11q11 11q11 "olfactory receptor, family 5, subfamily D, member 13 (gene/pseudogene)|olfactory receptor family 5 subfamily D member 13 (gene/pseudogene)" Olfactory receptors, family 5 152 2001-03-28 2020-05-01 2020-05-01 390142 ENSG00000279761 OTTHUMG00000166807 uc010ril.2 BK004394 NM_001001967 Q8NGL4 MGI:3031007 RGD:1334192 OR5D13 HGNC:15280 "ENST00000623930.1|NM_001001967.1" +HGNC:15281 OR5D14 olfactory receptor family 5 subfamily D member 14 protein-coding gene gene with protein product Approved 11q11 11q11 olfactory receptor, family 5, subfamily D, member 14 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 219436 ENSG00000186113 OTTHUMG00000166809 uc010rim.2 AB065779 NM_001004735 CCDS31508 Q8NGL3 MGI:3030996 RGD:1332951 OR5D14 HGNC:15281 "ENST00000335605.1|NM_001004735.1" +HGNC:15282 OR5D15P olfactory receptor family 5 subfamily D member 15 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 5, subfamily D, member 15 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81198 ENSG00000255019 OTTHUMG00000166808 NG_004195 PGOHUM00000242718 OR5D15P HGNC:15282 +HGNC:15283 OR5D16 olfactory receptor family 5 subfamily D member 16 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily D, member 16 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2016-10-05 390144 ENSG00000205029 OTTHUMG00000154233 uc010rio.2 AB065783 NM_001005496 CCDS31512 Q8NGK9 MGI:3030989 RGD:1333473 OR5D16 HGNC:15283 "ENST00000378396.1|NM_001005496.1" +HGNC:15284 OR5D17P olfactory receptor family 5 subfamily D member 17 pseudogene pseudogene pseudogene Approved 11q11 11q11 olfactory receptor, family 5, subfamily D, member 17 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81196 ENSG00000181837 OTTHUMG00000166806 NG_004194 PGOHUM00000257885 OR5D17P HGNC:15284 +HGNC:15285 OR5D18 olfactory receptor family 5 subfamily D member 18 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily D, member 18 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2016-10-05 219438 ENSG00000186119 OTTHUMG00000166811 uc010rin.2 AB065781 NM_001001952 CCDS31510 Q8NGL1 MGI:2151908 RGD:1594965 OR5D18 HGNC:15285 "ENST00000333976.7|NM_001001952.1" +HGNC:8342 OR5E1P olfactory receptor family 5 subfamily E member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 "TPCR24|HSTPCR24" OR5E1 olfactory receptor, family 5, subfamily E, member 1 pseudogene Olfactory receptors, family 5 152 1999-11-26 2015-12-09 2015-12-09 26343 ENSG00000170688 OTTHUMG00000154333 X89671 NR_027711 9119360 PGOHUM00000242586 OR5E1P HGNC:8342 +HGNC:8343 OR5F1 olfactory receptor family 5 subfamily F member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR11-10 olfactory receptor, family 5, subfamily F, member 1 Olfactory receptors, family 5 152 1998-11-09 2015-12-09 2016-10-05 338674 ENSG00000149133 OTTHUMG00000166825 uc010riv.2 AF065863 NM_003697 CCDS31515 O95221 9787077 608492 OR5F1 HGNC:8343 "ENST00000278409.1|NM_003697.1" +HGNC:15286 OR5F2P olfactory receptor family 5 subfamily F member 2 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily F, member 2 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81194 ENSG00000182365 OTTHUMG00000166837 NG_004193 PGOHUM00000242266 OR5F2P HGNC:15286 +HGNC:8344 OR5G1P olfactory receptor family 5 subfamily G member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 "OR11-104|OR93" OR5G2P olfactory receptor, family 5, subfamily G, member 1 pseudogene Olfactory receptors, family 5 152 1998-11-09 2015-12-09 2015-12-09 8591 ENSG00000181296 OTTHUMG00000167016 AF065871 NG_002299 9787077 PGOHUM00000257824 OR5G1P HGNC:8344 +HGNC:15287 OR5G3 olfactory receptor family 5 subfamily G member 3 (gene/pseudogene) protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "OR5G6P|OR5G3P" "olfactory receptor, family 5, subfamily G, member 3 pseudogene|olfactory receptor, family 5, subfamily G, member 3 (gene/pseudogene)" Olfactory receptors, family 5 152 2001-03-28 2008-06-11 2015-12-09 2015-12-09 81193 ENSG00000241356 OTTHUMG00000154395 uc058bkj.1 NG_002406 P0C626 "MGI:3030830|MGI:3030832|MGI:3030834" PGOHUM00000257827 OR5G3P HGNC:15287 +HGNC:15288 OR5G4P olfactory receptor family 5 subfamily G member 4 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily G, member 4 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81192 ENSG00000255485 OTTHUMG00000167017 NG_004192 PGOHUM00000257825 OR5G4P HGNC:15288 +HGNC:15289 OR5G5P olfactory receptor family 5 subfamily G member 5 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily G, member 5 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81191 ENSG00000205025 OTTHUMG00000154297 NG_004191 PGOHUM00000257826 OR5G5P HGNC:15289 +HGNC:8346 OR5H1 olfactory receptor family 5 subfamily H member 1 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 "HTPCRX14|HSHTPCRX14" olfactory receptor, family 5, subfamily H, member 1 Olfactory receptors, family 5 152 1999-11-26 2015-12-09 2016-10-05 26341 ENSG00000231192 OTTHUMG00000160070 uc011bgt.2 X64988 NM_001005338 CCDS33797 A6NKK0 1370859 "MGI:3030017|MGI:3030021|MGI:3030024|MGI:3030025|MGI:3030027|MGI:3030030" OR5H1 HGNC:8346 "ENST00000641874.1|NM_001005338.2" +HGNC:14752 OR5H2 olfactory receptor family 5 subfamily H member 2 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily H, member 2 Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79310 ENSG00000197938 OTTHUMG00000160080 uc003dsj.1 NM_001005482 CCDS33801 Q8NGV7 "MGI:3030020|MGI:3030024" RGD:1333073 OR5H2 HGNC:14752 "ENST00000355273.3|NM_001005482.2" +HGNC:14753 OR5H3P olfactory receptor family 5 subfamily H member 3 pseudogene pseudogene pseudogene Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily H, member 3 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79309 ENSG00000249975 OTTHUMG00000160115 NG_002237 PGOHUM00000238108 OR5H3P HGNC:14753 +HGNC:14763 OR5H4P olfactory receptor family 5 subfamily H member 4 pseudogene pseudogene pseudogene Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily H, member 4 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79299 ENSG00000248507 OTTHUMG00000160116 NG_002231 PGOHUM00000238109 OR5H4P HGNC:14763 +HGNC:14765 OR5H5P olfactory receptor family 5 subfamily H member 5 pseudogene pseudogene pseudogene Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily H, member 5 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79297 ENSG00000249321 OTTHUMG00000160112 NG_002230 PGOHUM00000238107 OR5H5P HGNC:14765 +HGNC:14767 OR5H6 olfactory receptor family 5 subfamily H member 6 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 "olfactory receptor, family 5, subfamily H, member 6|olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)|olfactory receptor family 5 subfamily H member 6 (gene/pseudogene)" Olfactory receptors, family 5 152 2001-02-28 2020-05-01 2020-05-01 79295 ENSG00000230301 OTTHUMG00000160078 uc003dsi.1 BK004374 NM_001005479 CCDS33800 Q8NGV6 "MGI:3030021|MGI:3030025|MGI:3030027|MGI:3030030" RGD:1332847 OR5H6 HGNC:14767 "ENST00000615035.3|NM_001005479.2" +HGNC:14771 OR5H7P olfactory receptor family 5 subfamily H member 7 pseudogene pseudogene pseudogene Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily H, member 7 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79291 ENSG00000187900 OTTHUMG00000160117 NG_002228 PGOHUM00000250292 OR5H7P HGNC:14771 +HGNC:14773 OR5H8 olfactory receptor family 5 subfamily H member 8 (gene/pseudogene) protein-coding gene gene with protein product Approved 3q11.2 03q11.2 OR5H8P "olfactory receptor, family 5, subfamily H, member 8 pseudogene|olfactory receptor, family 5, subfamily H, member 8 (gene/pseudogene)" Olfactory receptors, family 5 152 2001-02-28 2014-10-02 2015-12-09 2015-12-09 79289 ENSG00000232535 OTTHUMG00000154298 NG_002227 P0DN80 "MGI:3030024|MGI:3030025|MGI:3030027" RGD:1334340 OR5H8P HGNC:14773 +HGNC:31286 OR5H14 olfactory receptor family 5 subfamily H member 14 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily H, member 14 Olfactory receptors, family 5 152 2004-02-26 2015-12-09 2015-12-09 403273 ENSG00000236032 OTTHUMG00000160079 uc003dsg.2 NM_001005514 CCDS33798 A6NHG9 "MGI:3030021|MGI:3030025|MGI:3030027|MGI:3030030" RGD:1333633 OR5H14 HGNC:31286 "ENST00000641380.1|NM_001005514.2" +HGNC:31287 OR5H15 olfactory receptor family 5 subfamily H member 15 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily H, member 15 Olfactory receptors, family 5 152 2004-02-26 2015-12-09 2015-12-09 403274 ENSG00000233412 OTTHUMG00000160076 uc062luy.1 NM_001005515 CCDS33799 A6NDH6 "MGI:3030021|MGI:3030025|MGI:3030027|MGI:3030030" OR5H15 HGNC:31287 "ENST00000641450.1|NM_001005515.2" +HGNC:8347 OR5I1 olfactory receptor family 5 subfamily I member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "HSOlf1|OLF1" olfactory receptor, family 5, subfamily I, member 1 Olfactory receptors, family 5 152 1999-07-30 2015-12-09 2016-10-05 10798 ENSG00000167825 OTTHUMG00000166821 uc010ris.2 BC069093 NM_006637 CCDS7949 Q13606 "9017400|9787077" MGI:1313139 RGD:1333671 608496 OR5I1 HGNC:8347 "ENST00000301532.3|NM_006637.1" +HGNC:8348 OR5J1P olfactory receptor family 5 subfamily J member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 HTPCRH02 OR5J1 olfactory receptor, family 5, subfamily J, member 1 pseudogene Olfactory receptors, family 5 152 1999-11-26 2015-12-09 2015-12-09 401687 ENSG00000181780 OTTHUMG00000154228 X64974 NG_004086 1370859 PGOHUM00000242721 OR5J1P HGNC:8348 +HGNC:19612 OR5J2 olfactory receptor family 5 subfamily J member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily J, member 2 Olfactory receptors, family 5 152 2002-11-04 2015-12-09 2016-10-05 282775 ENSG00000174957 OTTHUMG00000166835 uc010rjb.2 AB065595 NM_001005492 CCDS31522 Q8NH18 MGI:3030886 RGD:1333285 OR5J2 HGNC:19612 "ENST00000312298.1|NM_001005492.1" +HGNC:31289 OR5J7P olfactory receptor family 5 subfamily J member 7 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily J, member 7 pseudogene Olfactory receptors, family 5 152 2004-02-26 2015-12-09 2017-10-30 403276 ENSG00000255217 OTTHUMG00000166843 NG_004428 PGOHUM00000290959 OR5J7P HGNC:31289 +HGNC:8349 OR5K1 olfactory receptor family 5 subfamily K member 1 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 "HTPCRX10|HSHTPCRX10" olfactory receptor, family 5, subfamily K, member 1 Olfactory receptors, family 5 152 1999-11-26 2015-12-09 2015-12-09 26339 ENSG00000232382 OTTHUMG00000160048 uc003dsm.4 X64984 NM_001004736 CCDS43115 Q8NHB7 1370859 "MGI:3030006|MGI:3030007" OR5K1 HGNC:8349 "ENST00000642057.1|NM_001004736.4" +HGNC:14774 OR5K2 olfactory receptor family 5 subfamily K member 2 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily K, member 2 Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 402135 ENSG00000231861 OTTHUMG00000160049 uc011bgx.3 AC021660 NM_001004737 CCDS33804 Q8NHB8 "MGI:3030006|MGI:3030007" RGD:1333929 OR5K2 HGNC:14774 "ENST00000427338.3|NM_001004737.1" +HGNC:31290 OR5K3 olfactory receptor family 5 subfamily K member 3 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily K, member 3 Olfactory receptors, family 5 152 2004-02-26 2015-12-09 2015-12-09 403277 ENSG00000206536 OTTHUMG00000160077 uc011bgw.2 NM_001005516 CCDS33803 A6NET4 MGI:3030029 RGD:1332965 OR5K3 HGNC:31290 "ENST00000383695.1|NM_001005516.1" +HGNC:31291 OR5K4 olfactory receptor family 5 subfamily K member 4 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 olfactory receptor, family 5, subfamily K, member 4 Olfactory receptors, family 5 152 2004-02-26 2015-12-09 2015-12-09 403278 ENSG00000196098 OTTHUMG00000160081 uc011bgv.2 NM_001005517 CCDS33802 A6NMS3 "MGI:3030012|MGI:3030014|MGI:3030015" RGD:1333626 OR5K4 HGNC:31291 "ENST00000354924.2|NM_001005517.1" +HGNC:8350 OR5L1 olfactory receptor family 5 subfamily L member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OST262 "olfactory receptor, family 5, subfamily L, member 1 (gene/pseudogene)|olfactory receptor family 5 subfamily L member 1 (gene/pseudogene)" Olfactory receptors, family 5 152 1999-12-09 2020-05-01 2020-05-01 219437 ENSG00000279395 OTTHUMG00000166810 uc001nhw.1 AB065780 NM_001004738 Q8NGL2 "MGI:3030990|MGI:3030991" OR5L1 HGNC:8350 "ENST00000625203.2|NM_001004738.2" +HGNC:8351 OR5L2 olfactory receptor family 5 subfamily L member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "HTPCRX16|HSHTPCRX16" olfactory receptor, family 5, subfamily L, member 2 Olfactory receptors, family 5 152 1999-11-26 2015-12-09 2016-10-05 26338 ENSG00000205030 OTTHUMG00000166812 uc001nhy.1 AB065782 NM_001004739 CCDS31511 Q8NGL0 1370859 "MGI:3030990|MGI:3030991" RGD:1333645 OR5L2 HGNC:8351 "ENST00000378397.1|NM_001004739.1" +HGNC:8352 OR5M1 olfactory receptor family 5 subfamily M member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OST050 olfactory receptor, family 5, subfamily M, member 1 Olfactory receptors, family 5 152 1999-12-09 2015-12-09 2020-04-01 390168 ENSG00000255012 OTTHUMG00000166863 uc001nja.1 AB065742 NM_001004740 CCDS53631 Q8NGP8 MGI:3030856 RGD:1332636 OR5M1 HGNC:8352 "ENST00000641076.1|NM_001004740.2" +HGNC:14803 OR5M2P olfactory receptor family 5 subfamily M member 2 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 2 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79523 ENSG00000254752 OTTHUMG00000166876 NG_004154 PGOHUM00000242274 OR5M2P HGNC:14803 +HGNC:14806 OR5M3 olfactory receptor family 5 subfamily M member 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 3 Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2016-10-05 219482 ENSG00000174937 OTTHUMG00000166875 uc010rjk.3 AB065746 NM_001004742 CCDS31532 Q8NGP4 "MGI:3030866|MGI:3030867" RGD:1332991 OR5M3 HGNC:14806 "ENST00000641993.1|NM_001004742.3" +HGNC:14808 OR5M4P olfactory receptor family 5 subfamily M member 4 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 4 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79518 ENSG00000230416 OTTHUMG00000166873 NG_004152 PGOHUM00000257887 OR5M4P HGNC:14808 +HGNC:14810 OR5M5P olfactory receptor family 5 subfamily M member 5 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 5 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 390166 ENSG00000185701 OTTHUMG00000166882 NG_004151 PGOHUM00000257823 OR5M5P HGNC:14810 +HGNC:14814 OR5M6P olfactory receptor family 5 subfamily M member 6 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 6 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79512 ENSG00000254603 OTTHUMG00000166881 NG_004150 PGOHUM00000250368 OR5M6P HGNC:14814 +HGNC:14818 OR5M7P olfactory receptor family 5 subfamily M member 7 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 7 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79508 ENSG00000254490 OTTHUMG00000166879 NG_004149 PGOHUM00000242275 OR5M7P HGNC:14818 +HGNC:14846 OR5M8 olfactory receptor family 5 subfamily M member 8 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 8 Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2016-10-05 219484 ENSG00000181371 OTTHUMG00000166877 uc001nix.1 AB065744 NM_001005282 CCDS31533 Q8NGP6 MGI:3030865 RGD:1333400 OR5M8 HGNC:14846 "ENST00000327216.5|NM_001005282.1" +HGNC:15294 OR5M9 olfactory receptor family 5 subfamily M member 9 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 9 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2016-10-05 390162 ENSG00000150269 OTTHUMG00000166874 uc010rjj.2 AB065747 NM_001004743 CCDS31531 Q8NGP3 "MGI:3030868|MGI:3030870" RGD:1332647 OR5M9 HGNC:15294 "ENST00000279791.1|NM_001004743.1" +HGNC:15290 OR5M10 olfactory receptor family 5 subfamily M member 10 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 10 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2020-04-01 390167 ENSG00000254834 OTTHUMG00000166862 uc001niz.1 BK004515 NM_001004741 CCDS53630 Q6IEU7 "MGI:3030856|MGI:3030857" RGD:1333556 OR5M10 HGNC:15290 "ENST00000526538.2|NM_001004741.1" +HGNC:15291 OR5M11 olfactory receptor family 5 subfamily M member 11 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR11-199 olfactory receptor, family 5, subfamily M, member 11 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2020-04-01 219487 ENSG00000255223 OTTHUMG00000166861 uc010rjl.2 AP002517 NM_001005245 CCDS53629 Q96RB7 "MGI:3030863|MGI:3031368" RGD:1332745 OR5M11 HGNC:15291 "ENST00000528616.5|NM_001005245.1" +HGNC:15292 OR5M12P olfactory receptor family 5 subfamily M member 12 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 12 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81188 ENSG00000197866 OTTHUMG00000154214 NG_004190 PGOHUM00000242731 OR5M12P HGNC:15292 +HGNC:15293 OR5M13P olfactory receptor family 5 subfamily M member 13 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily M, member 13 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81187 ENSG00000166693 OTTHUMG00000154216 AF179769 NG_002281 PGOHUM00000242279 OR5M13P HGNC:15293 +HGNC:15057 OR5M14P olfactory receptor family 5 subfamily M member 14 pseudogene pseudogene pseudogene Approved 4p13 04p13 OR5M15P olfactory receptor, family 5, subfamily M, member 14 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81421 ENSG00000249081 OTTHUMG00000160534 AC013359 NG_004263 PGOHUM00000245504 OR5M14P HGNC:15057 +HGNC:14779 OR5P1P olfactory receptor family 5 subfamily P member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 5, subfamily P, member 1 pseudogene Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 79283 ENSG00000166408 OTTHUMG00000154322 NG_004139 PGOHUM00000242163 OR5P1P HGNC:14779 +HGNC:14783 OR5P2 olfactory receptor family 5 subfamily P member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 JCG3 olfactory receptor, family 5, subfamily P, member 2 Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 120065 ENSG00000183303 OTTHUMG00000165668 uc001mfp.2 AF173006 NM_153444 CCDS7782 Q8WZ92 "MGI:3030303|MGI:3030304|MGI:3030312|MGI:3030316|MGI:3030317|MGI:3030318|MGI:3030319|MGI:3030320|MGI:3030321|MGI:3030322|MGI:3030324|MGI:3030326|MGI:3030327|MGI:3030328|MGI:3030329|MGI:3030331|MGI:3030332|MGI:3030336|MGI:3030340|MGI:3030" RGD:1332675 OR5P2 HGNC:14783 "ENST00000329434.3|NM_153444.1" +HGNC:14784 OR5P3 olfactory receptor family 5 subfamily P member 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 JCG1 olfactory receptor, family 5, subfamily P, member 3 Olfactory receptors, family 5 152 2001-02-28 2015-12-09 2015-12-09 120066 ENSG00000182334 OTTHUMG00000165669 uc010rbg.2 AF158377 NM_153445 CCDS7783 Q8WZ94 "MGI:3030314|MGI:3030342" RGD:1590087 OR5P3 HGNC:14784 "ENST00000641167.1|NM_153445.2" +HGNC:15295 OR5P4P olfactory receptor family 5 subfamily P member 4 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OST730 olfactory receptor, family 5, subfamily P, member 4 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 81185 ENSG00000227892 OTTHUMG00000154328 NG_004189 PGOHUM00000242584 OR5P4P HGNC:15295 +HGNC:15040 OR5S1P olfactory receptor family 5 subfamily S member 1 pseudogene pseudogene pseudogene Approved 2q37.3 02q37.3 olfactory receptor, family 5, subfamily S, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2015-12-09 391496 ENSG00000213048 OTTHUMG00000152396 NG_004369 PGOHUM00000241154 OR5S1P HGNC:15040 +HGNC:14821 OR5T1 olfactory receptor family 5 subfamily T member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR5T1P olfactory receptor, family 5, subfamily T, member 1 Olfactory receptors, family 5 152 2001-02-28 2004-03-10 2015-12-09 2016-10-05 390155 ENSG00000181698 OTTHUMG00000166853 uc001nio.1 AB065962 NM_001004745 CCDS31525 Q8NG75 "MGI:3030928|MGI:3030936" RGD:1333437 OR5T1 HGNC:14821 "ENST00000641665.1|NM_001004745.2" +HGNC:15296 OR5T2 olfactory receptor family 5 subfamily T member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily T, member 2 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2016-10-05 219464 ENSG00000181718 OTTHUMG00000166851 uc010rjc.2 AB065838 NM_001004746 CCDS31523 Q8NGG2 "MGI:2177524|MGI:3030920|MGI:3030929|MGI:3030935" RGD:1334282 OR5T2 HGNC:15296 "ENST00000641661.1|NM_001004746.4" +HGNC:15297 OR5T3 olfactory receptor family 5 subfamily T member 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR5T3Q olfactory receptor, family 5, subfamily T, member 3 Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2016-10-05 390154 ENSG00000172489 OTTHUMG00000166852 uc010rjd.2 AB065837 NM_001004747 CCDS31524 Q8NGG3 MGI:3030927 RGD:1334112 OR5T3 HGNC:15297 "ENST00000313033.4|NM_001004747.2" +HGNC:13972 OR5V1 olfactory receptor family 5 subfamily V member 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 hs6M1-21 olfactory receptor, family 5, subfamily V, member 1 Olfactory receptors, family 5 152 2001-04-03 2015-12-09 2015-12-09 81696 ENSG00000243729 OTTHUMG00000031199 uc063xco.1 NM_030876 CCDS4657 Q9UGF6 "MGI:2177493|MGI:2177494" RGD:1334062 OR5V1 HGNC:13972 "ENST00000641768.1|NM_030876.6" +HGNC:15298 OR5W1P olfactory receptor family 5 subfamily W member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 5, subfamily W, member 1 pseudogene Olfactory receptors, family 5 152 2001-03-28 2015-12-09 2016-10-05 81182 ENSG00000227806 OTTHUMG00000154235 NG_004188 PGOHUM00000262183 OR5W1P HGNC:15298 +HGNC:15299 OR5W2 olfactory receptor family 5 subfamily W member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "OR5W2P|OR5W3P" olfactory receptor, family 5, subfamily W, member 2 Olfactory receptors, family 5 152 2001-03-28 2004-03-10 2015-12-09 2016-10-05 390148 ENSG00000187612 OTTHUMG00000166818 uc010rir.2 BK004398 NM_001001960 CCDS31513 Q8NH69 "MGI:1313138|MGI:3030965|MGI:3030966|MGI:3030969|MGI:3030970|MGI:3030971|MGI:3030972|MGI:3030974|MGI:3030975|MGI:3030977|MGI:3030985|MGI:3030986|MGI:3030987" RGD:1334372 OR5W2 HGNC:15299 "ENST00000344514.1|NM_001001960.1" +HGNC:15301 OR6A2 olfactory receptor family 6 subfamily A member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR11-55 "OR6A2P|OR6A1" olfactory receptor, family 6, subfamily A, member 2 Olfactory receptors, family 6 153 2001-03-28 2004-03-10 2015-12-09 2015-12-09 8590 ENSG00000184933 OTTHUMG00000165736 uc001mes.2 AB065822 NM_003696 CCDS7772 O95222 MGI:97432 RGD:6493071 608495 OR6A2 HGNC:15301 "ENST00000641196.1|NM_003696.3" +HGNC:8354 OR6B1 olfactory receptor family 6 subfamily B member 1 protein-coding gene gene with protein product Approved 7q35 07q35 OR7-3 olfactory receptor, family 6, subfamily B, member 1 Olfactory receptors, family 6 153 1999-12-09 2015-12-09 2016-10-05 135946 ENSG00000221813 OTTHUMG00000157765 uc003wdt.2 NM_001005281 CCDS43667 O95007 MGI:3030283 RGD:1333367 OR6B1 HGNC:8354 "ENST00000641698.1|NM_001005281.3" +HGNC:15041 OR6B2 olfactory receptor family 6 subfamily B member 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 OR6B2P "olfactory receptor, family 6, subfamily B, member 2 pseudogene|olfactory receptor, family 6, subfamily B, member 2" Olfactory receptors, family 6 153 2001-03-28 2004-10-07 2015-12-09 2015-12-09 389090 ENSG00000182083 OTTHUMG00000152400 uc010zoc.3 NM_001005853 CCDS46559 Q6IFH4 "MGI:3031249|MGI:3031250" OR6B2 HGNC:15041 "ENST00000319423.5|NM_001005853.1" +HGNC:15042 OR6B3 olfactory receptor family 6 subfamily B member 3 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 OR6B3Q OR6B3P "olfactory receptor, family 6, subfamily B, member 3 pseudogene|olfactory receptor, family 6, subfamily B, member 3" Olfactory receptors, family 6 153 2001-03-28 2002-11-15 2015-12-09 2015-12-09 150681 ENSG00000178586 OTTHUMG00000152399 uc010zoe.2 NM_173351 CCDS42837 Q8NGW1 MGI:3031248 RGD:1332746 OR6B3 HGNC:15042 +HGNC:8355 OR6C1 olfactory receptor family 6 subfamily C member 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 OST267 olfactory receptor, family 6, subfamily C, member 1 Olfactory receptors, family 6 153 1999-12-09 2015-12-09 2016-10-05 390321 ENSG00000205330 OTTHUMG00000168102 uc010spi.3 AF399506 NM_001005182 CCDS31818 Q96RD1 "MGI:3030620|MGI:3030636" RGD:1334017 OR6C1 HGNC:8355 "ENST00000642104.1|NM_001005182.2" +HGNC:15436 OR6C2 olfactory receptor family 6 subfamily C member 2 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 OR6C67 olfactory receptor, family 6, subfamily C, member 2 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2016-11-09 341416 ENSG00000179695 OTTHUMG00000169957 uc001sgz.1 AF179766 NM_054105 CCDS31824 Q9NZP2 "MGI:3030603|MGI:3030625" RGD:1334254 OR6C2 HGNC:15436 "ENST00000641202.1|NM_054105.2" +HGNC:15437 OR6C3 olfactory receptor family 6 subfamily C member 3 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 OST709 olfactory receptor, family 6, subfamily C, member 3 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 254786 ENSG00000205329 OTTHUMG00000169861 uc010spj.2 AF179770 NM_001388498 CCDS31819 Q9NZP0 "MGI:3030622|MGI:3030637" RGD:7661895 OR6C3 HGNC:15437 "ENST00000641740.2|NM_001388498.1" +HGNC:19632 OR6C4 olfactory receptor family 6 subfamily C member 4 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 4 Olfactory receptors, family 6 153 2002-11-04 2015-12-09 2016-11-09 341418 ENSG00000179626 OTTHUMG00000169959 uc010spp.3 BK004261 NM_001005494 CCDS31827 Q8NGE1 RGD:1333670 OR6C4 HGNC:19632 "ENST00000641569.1|NM_001005494.2" +HGNC:31292 OR6C5P olfactory receptor family 6 subfamily C member 5 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 5 pseudogene Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 390320 ENSG00000230307 OTTHUMG00000154364 NG_004345 PGOHUM00000239801 OR6C5P HGNC:31292 +HGNC:31293 OR6C6 olfactory receptor family 6 subfamily C member 6 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 6 Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2016-10-05 283365 ENSG00000188324 OTTHUMG00000168101 uc010sph.2 NM_001005493 CCDS31817 A6NF89 "MGI:3030613|MGI:3030616|MGI:3030638" RGD:1334418 OR6C6 HGNC:31293 "ENST00000358433.3|NM_001005493.2" +HGNC:31306 OR6C7P olfactory receptor family 6 subfamily C member 7 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 7 pseudogene Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 390322 ENSG00000257757 OTTHUMG00000169885 NG_004346 PGOHUM00000239802 OR6C7P HGNC:31306 +HGNC:31294 OR6C64P olfactory receptor family 6 subfamily C member 64 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 64 pseudogene Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 403281 ENSG00000234670 OTTHUMG00000154363 NG_004429 PGOHUM00000239805 OR6C64P HGNC:31294 +HGNC:31295 OR6C65 olfactory receptor family 6 subfamily C member 65 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 65 Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 403282 ENSG00000205328 OTTHUMG00000169955 uc010spl.3 NM_001005518 CCDS31821 A6NJZ3 MGI:3030642 RGD:1332643 OR6C65 HGNC:31295 "ENST00000379665.3|NM_001005518.1" +HGNC:31296 OR6C66P olfactory receptor family 6 subfamily C member 66 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 66 pseudogene Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 403283 ENSG00000233606 OTTHUMG00000154365 NG_004430 PGOHUM00000239803 OR6C66P HGNC:31296 +HGNC:31297 OR6C68 olfactory receptor family 6 subfamily C member 68 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 68 Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2016-04-25 403284 ENSG00000205327 OTTHUMG00000169958 uc031qhq.1 NM_001005519 CCDS31826 A6NDL8 MGI:3030614 RGD:1333022 OR6C68 HGNC:31297 "ENST00000548615.1|NM_001005519.2" +HGNC:31298 OR6C69P olfactory receptor family 6 subfamily C member 69 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 69 pseudogene Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 403285 ENSG00000213451 OTTHUMG00000154374 NG_004431 PGOHUM00000239799 OR6C69P HGNC:31298 +HGNC:31299 OR6C70 olfactory receptor family 6 subfamily C member 70 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 70 Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 390327 ENSG00000184954 OTTHUMG00000171127 uc010spn.2 NM_001005499 CCDS31825 A6NIJ9 MGI:3030648 RGD:1333363 OR6C70 HGNC:31299 "ENST00000327335.4|NM_001005499.1" +HGNC:31300 OR6C71P olfactory receptor family 6 subfamily C member 71 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 71 pseudogene Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 390324 ENSG00000203408 OTTHUMG00000154366 NG_004347 PGOHUM00000239468 OR6C71P HGNC:31300 +HGNC:31301 OR6C72P olfactory receptor family 6 subfamily C member 72 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 72 pseudogene Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2016-11-09 403288 ENSG00000205331 OTTHUMG00000154372 NG_004432 PGOHUM00000291680 OR6C72P HGNC:31301 +HGNC:31302 OR6C73P olfactory receptor family 6 subfamily C member 73 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 73 pseudogene Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 403289 ENSG00000257414 OTTHUMG00000169954 NG_004433 PGOHUM00000239804 OR6C73P HGNC:31302 +HGNC:31303 OR6C74 olfactory receptor family 6 subfamily C member 74 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 74 Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2016-10-05 254783 ENSG00000197706 OTTHUMG00000165162 uc010spg.3 NM_001005490 CCDS31816 A6NCV1 MGI:3030655 RGD:1332775 OR6C74 HGNC:31303 "ENST00000343399.5|NM_001005490.2" +HGNC:31304 OR6C75 olfactory receptor family 6 subfamily C member 75 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 75 Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 390323 ENSG00000187857 OTTHUMG00000169886 uc010spk.2 NM_001005497 CCDS31820 A6NL08 MGI:3030624 RGD:1332702 OR6C75 HGNC:31304 "ENST00000641576.1|NM_001005497.2" +HGNC:31305 OR6C76 olfactory receptor family 6 subfamily C member 76 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 olfactory receptor, family 6, subfamily C, member 76 Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2015-12-09 390326 ENSG00000185821 OTTHUMG00000169956 uc010spm.2 NM_001005183 CCDS31823 A6NM76 "MGI:3030643|MGI:3030647" RGD:1334198 OR6C76 HGNC:31305 "ENST00000328314.3|NM_001005183.1" +HGNC:14849 OR6D1P olfactory receptor family 6 subfamily D member 1 pseudogene pseudogene pseudogene Approved 10q11.21 10q11.21 olfactory receptor, family 6, subfamily D, member 1 pseudogene Olfactory receptors, family 6 153 2001-02-28 2015-12-09 2015-12-09 220974 ENSG00000224402 OTTHUMG00000018079 AL358394 NG_004293 PGOHUM00000238765 OR6D1P HGNC:14849 +HGNC:14739 OR6E1P olfactory receptor family 6 subfamily E member 1 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 6, subfamily E, member 1 pseudogene Olfactory receptors, family 6 153 2001-02-28 2015-12-09 2015-12-09 79323 ENSG00000235213 OTTHUMG00000154330 NG_002244 PGOHUM00000248108 OR6E1P HGNC:14739 +HGNC:15027 OR6F1 olfactory receptor family 6 subfamily F member 1 protein-coding gene gene with protein product Approved 1q44 01q44 OST731 olfactory receptor, family 6, subfamily F, member 1 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 343169 ENSG00000169214 OTTHUMG00000040213 uc001idj.1 BK004460 NM_001005286 CCDS31095 Q8NGZ6 MGI:3030142 RGD:6500576 OR6F1 HGNC:15027 "ENST00000641470.1|NM_001005286.2" +HGNC:14707 OR6J1 olfactory receptor family 6 subfamily J member 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "OR6J2|OR6J1P" "olfactory receptor, family 6, subfamily J, member 1|olfactory receptor, family 6, subfamily J, member 1 (gene/pseudogene)|olfactory receptor family 6 subfamily J member 1 (gene/pseudogene)" Olfactory receptors, family 6 153 2001-02-28 2004-03-10 2020-05-01 2020-05-01 79549 ENSG00000255804 OTTHUMG00000168897 uc058zia.1 AC023226 NM_001348233 CCDS86371 Q8NGC5 OR6J1 HGNC:14707 "ENST00000540461.2|NM_001348233.2" +HGNC:15028 OR6K1P olfactory receptor family 6 subfamily K member 1 pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 olfactory receptor, family 6, subfamily K, member 1 pseudogene Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 81449 ENSG00000231237 OTTHUMG00000022773 NG_004271 PGOHUM00000244297 OR6K1P HGNC:15028 +HGNC:15029 OR6K2 olfactory receptor family 6 subfamily K member 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 olfactory receptor, family 6, subfamily K, member 2 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 81448 ENSG00000196171 OTTHUMG00000022768 uc001fsu.1 BK004196 NM_001005279 CCDS30902 Q8NGY2 MGI:3030254 RGD:1333784 OR6K2 HGNC:15029 "ENST00000359610.3|NM_001005279.3" +HGNC:15030 OR6K3 olfactory receptor family 6 subfamily K member 3 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 olfactory receptor, family 6, subfamily K, member 3 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2016-04-25 391114 ENSG00000203757 OTTHUMG00000022770 uc021pbn.1 AB065633 NM_001005327 CCDS30903 Q8NGY3 MGI:3030258 RGD:1332672 OR6K3 HGNC:15030 "ENST00000368145.2|NM_001005327.3" +HGNC:15031 OR6K4P olfactory receptor family 6 subfamily K member 4 pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 olfactory receptor, family 6, subfamily K, member 4 pseudogene Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 128370 ENSG00000180437 OTTHUMG00000022777 NG_004288 OR6K4P HGNC:15031 +HGNC:15032 OR6K5P olfactory receptor family 6 subfamily K member 5 pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 olfactory receptor, family 6, subfamily K, member 5 pseudogene Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 391115 ENSG00000226949 OTTHUMG00000022778 NG_004363 PGOHUM00000244299 OR6K5P HGNC:15032 +HGNC:15033 OR6K6 olfactory receptor family 6 subfamily K member 6 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 olfactory receptor, family 6, subfamily K, member 6 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 128371 ENSG00000180433 OTTHUMG00000022772 uc001fsw.2 BK004198 NM_001005184 CCDS30904 Q8NGW6 MGI:3030065 RGD:1333957 OR6K6 HGNC:15033 +HGNC:15124 OR6L1P olfactory receptor family 6 subfamily L member 1 pseudogene pseudogene pseudogene Approved 10q26.3 10q26.3 olfactory receptor, family 6, subfamily L, member 1 pseudogene Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2016-08-17 390012 ENSG00000233685 OTTHUMG00000019327 Z96427 NG_002282 PGOHUM00000290025 OR6L1P HGNC:15124 +HGNC:15125 OR6L2P olfactory receptor family 6 subfamily L member 2 pseudogene pseudogene pseudogene Approved 10q26.3 10q26.3 olfactory receptor, family 6, subfamily L, member 2 pseudogene Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2016-08-17 81356 ENSG00000273327 OTTHUMG00000185916 NG_004252 PGOHUM00000290024 OR6L2P HGNC:15125 +HGNC:14711 OR6M1 olfactory receptor family 6 subfamily M member 1 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 olfactory receptor, family 6, subfamily M, member 1 Olfactory receptors, family 6 153 2001-02-28 2015-12-09 2015-12-09 390261 ENSG00000196099 OTTHUMG00000166012 uc010rzz.3 AB065762 NM_001005325 CCDS31696 Q8NGM8 OR6M1 HGNC:14711 "ENST00000309154.3|NM_001005325.1" +HGNC:14713 OR6M2P olfactory receptor family 6 subfamily M member 2 pseudogene pseudogene pseudogene Approved 11q24.1 11q24.1 olfactory receptor, family 6, subfamily M, member 2 pseudogene Olfactory receptors, family 6 153 2001-02-28 2015-12-09 2015-12-09 79546 ENSG00000254613 OTTHUMG00000166013 NG_004155 PGOHUM00000242519 OR6M2P HGNC:14713 +HGNC:14741 OR6M3P olfactory receptor family 6 subfamily M member 3 pseudogene pseudogene pseudogene Approved 11q24.1 11q24.1 olfactory receptor, family 6, subfamily M, member 3 pseudogene Olfactory receptors, family 6 153 2001-02-28 2015-12-09 2015-12-09 79321 ENSG00000254430 OTTHUMG00000166014 NG_004140 PGOHUM00000242520 OR6M3P HGNC:14741 +HGNC:15034 OR6N1 olfactory receptor family 6 subfamily N member 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 olfactory receptor, family 6, subfamily N, member 1 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 128372 ENSG00000197403 OTTHUMG00000022774 uc010piq.2 BK004199 NM_001005185 CCDS30905 Q8NGY5 MGI:3030263 RGD:1334435 OR6N1 HGNC:15034 "ENST00000641846.1|NM_001005185.2" +HGNC:15035 OR6N2 olfactory receptor family 6 subfamily N member 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 olfactory receptor, family 6, subfamily N, member 2 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 81442 ENSG00000188340 OTTHUMG00000022775 uc010pir.2 BK004200 NM_001005278 CCDS30906 Q8NGY6 MGI:3030264 RGD:1333597 OR6N2 HGNC:15035 "ENST00000641131.1|NM_001005278.2" +HGNC:15036 OR6P1 olfactory receptor family 6 subfamily P member 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 olfactory receptor, family 6, subfamily P, member 1 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 128366 ENSG00000186440 OTTHUMG00000019633 uc010pim.2 BK004193 NM_001160325 CCDS53391 Q8NGX9 MGI:3030248 RGD:1332986 OR6P1 HGNC:15036 "ENST00000641540.1|NM_001160325.2" +HGNC:15302 OR6Q1 olfactory receptor family 6 subfamily Q member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "olfactory receptor, family 6, subfamily Q, member 1 (gene/pseudogene)|olfactory receptor family 6 subfamily Q member 1 (gene/pseudogene)" Olfactory receptors, family 6 153 2001-03-28 2020-05-01 2020-05-01 219952 ENSG00000279051 OTTHUMG00000168831 uc010rjz.2 AB065737 NM_001005186 CCDS31541 Q8NGQ2 RGD:1333221 OR6Q1 HGNC:15302 "ENST00000302622.4|NM_001005186.2" +HGNC:15037 OR6R1P olfactory receptor family 6 subfamily R member 1 pseudogene pseudogene pseudogene Approved 1q44 01q44 olfactory receptor, family 6, subfamily R, member 1 pseudogene Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 81440 ENSG00000230576 OTTHUMG00000040202 NG_004270 PGOHUM00000259537 OR6R1P HGNC:15037 +HGNC:31307 OR6R2P olfactory receptor family 6 subfamily R member 2 pseudogene pseudogene pseudogene Approved 8p21.3 08p21.3 olfactory receptor, family 6, subfamily R, member 2 pseudogene Olfactory receptors, family 6 153 2004-02-26 2015-12-09 2016-08-17 403294 ENSG00000273484 OTTHUMG00000185882 NG_004434 PGOHUM00000303478 OR6R2P HGNC:31307 +HGNC:15363 OR6S1 olfactory receptor family 6 subfamily S member 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 OR6S1Q olfactory receptor, family 6, subfamily S, member 1 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 341799 ENSG00000181803 OTTHUMG00000171010 uc001vxv.1 AL163636 NM_001001968 CCDS32038 Q8NH40 MGI:3030584 RGD:1333368 OR6S1 HGNC:15363 "ENST00000320704.3|NM_001001968.1" +HGNC:14848 OR6T1 olfactory receptor family 6 subfamily T member 1 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 olfactory receptor, family 6, subfamily T, member 1 Olfactory receptors, family 6 153 2001-02-28 2015-12-09 2015-12-09 219874 ENSG00000181499 OTTHUMG00000165962 uc010sab.3 AB065759 NM_001005187 CCDS31700 Q8NGN1 RGD:9074148 OR6T1 HGNC:14848 "ENST00000321252.3|NM_001005187.1" +HGNC:19631 OR6U2P olfactory receptor family 6 subfamily U member 2 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 OR6U1P olfactory receptor, family 6, subfamily U, member 2 pseudogene Olfactory receptors, family 6 153 2002-11-04 2015-12-09 2018-04-30 390329 ENSG00000272937 OTTHUMG00000185940 NG_004348 PGOHUM00000239806 OR6U2P HGNC:19631 +HGNC:15090 OR6V1 olfactory receptor family 6 subfamily V member 1 protein-coding gene gene with protein product Approved 7q34 07q34 GPR138 olfactory receptor, family 6, subfamily V, member 1 Olfactory receptors, family 6 153 2001-03-28 2015-12-09 2015-12-09 346517 ENSG00000225781 OTTHUMG00000158385 uc011ksv.3 NM_001001667 CCDS47728 Q8N148 12732197 OR6V1 HGNC:15090 "ENST00000418316.2|NM_001001667.1" +HGNC:15091 OR6W1P olfactory receptor family 6 subfamily W member 1 pseudogene pseudogene pseudogene Approved 7q34 07q34 sdolf OR6W1 olfactory receptor, family 6, subfamily W, member 1 pseudogene Olfactory receptors, family 6 153 2001-03-28 2004-03-10 2015-12-09 2015-12-09 89883 ENSG00000179420 OTTHUMG00000158389 AF286696 NR_002140 PGOHUM00000250914 OR6W1P HGNC:15091 +HGNC:14737 OR6X1 olfactory receptor family 6 subfamily X member 1 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 olfactory receptor, family 6, subfamily X, member 1 Olfactory receptors, family 6 153 2001-02-28 2015-12-09 2015-12-09 390260 ENSG00000221931 OTTHUMG00000166011 uc010rzy.3 AB065510 NM_001005188 CCDS31695 Q8NH79 MGI:3030820 RGD:1334385 OR6X1 HGNC:14737 "ENST00000327930.3|NM_001005188.1" +HGNC:14823 OR6Y1 olfactory receptor family 6 subfamily Y member 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 OR6Y2 olfactory receptor, family 6, subfamily Y, member 1 Olfactory receptors, family 6 153 2001-02-28 2015-12-09 2015-12-09 391112 ENSG00000197532 OTTHUMG00000019629 uc010pil.2 BK004192 NM_001005189 CCDS30899 Q8NGX8 MGI:3030054 RGD:1334224 OR6Y1 HGNC:14823 "ENST00000641622.1|NM_001005189.2" +HGNC:8364 OR7A1P olfactory receptor family 7 subfamily A member 1 pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 "OR19-3|OLF4p|hg513" OR7A6P olfactory receptor, family 7, subfamily A, member 1 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2016-07-26 390895 ENSG00000268834 OTTHUMG00000183347 NG_004361 PGOHUM00000294889 OR7A1P HGNC:8364 +HGNC:8370 OR7A2P olfactory receptor family 7 subfamily A member 2 pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 "hg1003|OR19-18|OLF4p" "OR7A7|OR7A2" olfactory receptor, family 7, subfamily A, member 2 pseudogene Olfactory receptors, family 7 154 1999-12-09 2004-03-10 2015-12-09 2016-07-26 390894 ENSG00000172148 OTTHUMG00000183414 NG_004087 Q8NGA2 MGI:109316 PGOHUM00000294887 OR7A2P HGNC:8370 +HGNC:8366 OR7A3P olfactory receptor family 7 subfamily A member 3 pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 "OR11-7b|OR19-12|OR14-59|OR14-11" "OR7A12P|OR7A14P|OR7A14|OR7A13P" olfactory receptor, family 7, subfamily A, member 3 pseudogene Olfactory receptors, family 7 154 1998-11-09 2015-12-09 2015-12-09 26668 ENSG00000269787 OTTHUMG00000183348 AF065859 NG_002170 9787077 PGOHUM00000263632 OR7A3P HGNC:8366 +HGNC:8368 OR7A5 olfactory receptor family 7 subfamily A member 5 protein-coding gene gene with protein product Approved 19p13.1 19p13.1 HTPCR2 "olfactory receptor, family 7, subfamily A, member 5 pseudogene|olfactory receptor, family 7, subfamily A, member 5" Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2019-08-20 26659 ENSG00000188269 OTTHUMG00000183410 uc010xoa.2 X64976 NM_017506 CCDS12318 Q15622 MGI:109316 RGD:1333658 OR7A5 HGNC:8368 "ENST00000322301.5|NM_017506.2" +HGNC:8371 OR7A8P olfactory receptor family 7 subfamily A member 8 pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 "OST042|HG83|OR19-11" OR7A9P olfactory receptor, family 7, subfamily A, member 8 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2016-07-26 26661 ENSG00000269552 OTTHUMG00000183413 AF399434 NG_003166 PGOHUM00000294886 OR7A8P HGNC:8371 +HGNC:8356 OR7A10 olfactory receptor family 7 subfamily A member 10 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 olfactory receptor, family 7, subfamily A, member 10 Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2020-04-01 390892 ENSG00000127515 OTTHUMG00000183412 uc002mzx.1 NM_001005190 CCDS32936 O76100 "MGI:107174|MGI:109316|MGI:1333808|MGI:3031185|MGI:3031186|MGI:3031187|MGI:3031188" RGD:1332740 OR7A10 HGNC:8356 "ENST00000641129.1|NM_001005190.2" +HGNC:8357 OR7A11P olfactory receptor family 7 subfamily A member 11 pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 OST527 OR7A11 olfactory receptor, family 7, subfamily A, member 11 pseudogene Olfactory receptors, family 7 154 1999-12-09 2001-06-25 2015-12-09 2015-12-09 26669 ENSG00000198367 OTTHUMG00000154276 NG_002215 PGOHUM00000295218 OR7A11P HGNC:8357 +HGNC:8361 OR7A15P olfactory receptor family 7 subfamily A member 15 pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 "OR19-134|OR19-1|OR19-146" "OR7A4P|OR7A16P|OR7A20P" olfactory receptor, family 7, subfamily A, member 15 pseudogene Olfactory receptors, family 7 154 1999-11-26 2015-12-09 2015-12-09 26335 ENSG00000176923 OTTHUMG00000183349 U86253 NG_002311 9500546 PGOHUM00000295219 OR7A15P HGNC:8361 +HGNC:8363 OR7A17 olfactory receptor family 7 subfamily A member 17 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 HTPCRX19 olfactory receptor, family 7, subfamily A, member 17 Olfactory receptors, family 7 154 1999-11-26 2015-12-09 2020-04-01 26333 ENSG00000185385 OTTHUMG00000183415 uc010xob.3 X64993 NM_030901 CCDS12319 O14581 1370859 "MGI:107174|MGI:109316|MGI:1333808|MGI:3031185|MGI:3031188" OR7A17 HGNC:8363 "ENST00000641113.1|NM_030901.2" +HGNC:15399 OR7A18P olfactory receptor family 7 subfamily A member 18 pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 olfactory receptor, family 7, subfamily A, member 18 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81081 ENSG00000269678 OTTHUMG00000183346 NG_002278 PGOHUM00000234175 OR7A18P HGNC:15399 +HGNC:15337 OR7A19P olfactory receptor family 7 subfamily A member 19 pseudogene pseudogene pseudogene Approved 12q13.11 12q13.11 olfactory receptor, family 7, subfamily A, member 19 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2017-03-22 387853 ENSG00000272963 OTTHUMG00000185953 AC008035 NG_004313 PGOHUM00000291639 OR7A19P HGNC:15337 +HGNC:8373 OR7C1 olfactory receptor family 7 subfamily C member 1 protein-coding gene gene with protein product Approved 19p13.1 19p13.1 OR19-5 OR7C4 olfactory receptor, family 7, subfamily C, member 1 Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2019-08-20 26664 ENSG00000127530 OTTHUMG00000183410 uc010xnz.3 X89676 NM_001370485 CCDS12317 O76099 MGI:3031190 OR7C1 HGNC:8373 +HGNC:8374 OR7C2 olfactory receptor family 7 subfamily C member 2 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 OR19-18 OR7C3 "olfactory receptor, family 7, subfamily C, member 2|olfactory receptor family 7 subfamily C member 2 (gene/pseudogene)" Olfactory receptors, family 7 154 1999-12-09 2020-05-01 2020-05-01 26658 ENSG00000127529 OTTHUMG00000183350 uc010xoc.2 U86255 NM_012377 CCDS12320 O60412 MGI:3031190 RGD:1334014 OR7C2 HGNC:8374 "ENST00000248072.3|NM_012377.1" +HGNC:8377 OR7D1P olfactory receptor family 7 subfamily D member 1 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 OR19-A "OR7D3P|OR7D3" olfactory receptor, family 7, subfamily D, member 1 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2015-12-09 26656 ENSG00000188314 OTTHUMG00000179937 U86251 NG_002212 9500546 PGOHUM00000263458 OR7D1P HGNC:8377 +HGNC:8378 OR7D2 olfactory receptor family 7 subfamily D member 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "OR19-4|HTPCRH03|FLJ38149" olfactory receptor, family 7, subfamily D, member 2 Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2019-08-20 162998 ENSG00000188000 OTTHUMG00000179934 uc002mkz.1 AK095468 NM_001386112 CCDS32900 Q96RA2 RGD:2320667 OR7D2 HGNC:8378 "ENST00000641288.2|NM_175883.4" +HGNC:8380 OR7D4 olfactory receptor family 7 subfamily D member 4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "hg105|OR19-B" OR7D4P olfactory receptor, family 7, subfamily D, member 4 Olfactory receptors, family 7 154 1999-12-09 2004-03-10 2015-12-09 2015-12-09 125958 ENSG00000174667 OTTHUMG00000179936 uc002mla.2 NM_001005191 CCDS32901 Q8NG98 "MGI:1313142|MGI:2153206|MGI:3030701" RGD:1334297 611538 OR7D4 HGNC:8380 "ENST00000641669.1|NM_001005191.3" +HGNC:31308 OR7D11P olfactory receptor family 7 subfamily D member 11 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 olfactory receptor, family 7, subfamily D, member 11 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2015-12-09 403295 OTTHUMG00000179937 NG_005822 PGOHUM00000234487 HGNC:31308 +HGNC:8391 OR7E1P olfactory receptor family 7 subfamily E member 1 pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 olfactory receptor, family 7, subfamily E, member 1 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2015-12-09 341128 ENSG00000255554 OTTHUMG00000167471 NG_004307 PGOHUM00000250381 OR7E1P HGNC:8391 +HGNC:8402 OR7E2P olfactory receptor family 7 subfamily E member 2 pseudogene pseudogene pseudogene Approved 11q14.2 11q14.2 "OR11-6|hg94" "OR7F2P|OR7E51P" olfactory receptor, family 7, subfamily E, member 2 pseudogene Olfactory receptors, family 7 154 1998-11-09 2015-12-09 2015-12-09 8587 ENSG00000255203 OTTHUMG00000167228 AF065857 NR_045004 9787077 PGOHUM00000242396 OR7E2P HGNC:8402 +HGNC:8424 OR7E4P olfactory receptor family 7 subfamily E member 4 pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 OR11-11a OR7F4P olfactory receptor, family 7, subfamily E, member 4 pseudogene Olfactory receptors, family 7 154 1998-11-09 2015-12-09 2015-12-09 8585 ENSG00000255261 OTTHUMG00000167456 AF065864 NG_002162 9787077 PGOHUM00000257896 OR7E4P HGNC:8424 +HGNC:8435 OR7E5P olfactory receptor family 7 subfamily E member 5 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 "OR11-12|FLJ31393" OR7F5P olfactory receptor, family 7, subfamily E, member 5 pseudogene Olfactory receptors, family 7 154 1998-11-09 2015-12-09 2015-12-09 219445 ENSG00000214880 OTTHUMG00000166911 AK055955 NR_027688 9787077 PGOHUM00000257822 OR7E5P HGNC:8435 +HGNC:8457 OR7E7P olfactory receptor family 7 subfamily E member 7 pseudogene pseudogene pseudogene Approved 7q21.3 07q21.3 olfactory receptor, family 7, subfamily E, member 7 pseudogene Olfactory receptors, family 7 154 1999-12-07 2015-12-09 2015-12-09 392752 ENSG00000238228 OTTHUMG00000154185 NG_002208 PGOHUM00000260275 OR7E7P HGNC:8457 +HGNC:8458 OR7E8P olfactory receptor family 7 subfamily E member 8 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 OR11-11a olfactory receptor, family 7, subfamily E, member 8 pseudogene Olfactory receptors, family 7 154 1999-12-07 2015-12-09 2016-08-17 346708 ENSG00000177400 OTTHUMG00000165467 AB065553 NG_002207 PGOHUM00000303110 OR7E8P HGNC:8458 +HGNC:8381 OR7E10P olfactory receptor family 7 subfamily E member 10 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 OR11-1 olfactory receptor, family 7, subfamily E, member 10 pseudogene Olfactory receptors, family 7 154 1999-07-30 2015-12-09 2016-08-17 10823 ENSG00000254724 OTTHUMG00000165469 AF399403 NG_002183 9787077 PGOHUM00000303112 OR7E10P HGNC:8381 +HGNC:8382 OR7E11P olfactory receptor family 7 subfamily E member 11 pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 OR11-2 OR7E144P olfactory receptor, family 7, subfamily E, member 11 pseudogene Olfactory receptors, family 7 154 1999-07-30 2015-12-09 2021-09-29 10822 ENSG00000285537 OTTHUMG00000167246 AF065853 NG_002181 9787077 PGOHUM00000242338 OR7E11P HGNC:8382 +HGNC:8383 OR7E12P olfactory receptor family 7 subfamily E member 12 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OR11-3 "OR7E58P|OR7E79P" olfactory receptor, family 7, subfamily E, member 12 pseudogene Olfactory receptors, family 7 154 1999-07-30 2015-12-09 2015-12-09 10821 ENSG00000189398 OTTHUMG00000011703 AF065854 NR_044999 9787077 PGOHUM00000242117 OR7E12P HGNC:8383 +HGNC:8384 OR7E13P olfactory receptor family 7 subfamily E member 13 pseudogene pseudogene pseudogene Approved 11q14.2 11q14.2 OR11-4 olfactory receptor, family 7, subfamily E, member 13 pseudogene Olfactory receptors, family 7 154 1999-07-30 2015-12-09 2016-10-05 10820 ENSG00000197882 OTTHUMG00000167227 AF065855 NG_002177 9787077 PGOHUM00000242395 OR7E13P HGNC:8384 +HGNC:8385 OR7E14P olfactory receptor family 7 subfamily E member 14 pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 OR11-5 OR7E151P olfactory receptor, family 7, subfamily E, member 14 pseudogene Olfactory receptors, family 7 154 1999-07-30 2015-12-09 2015-12-09 10819 ENSG00000184669 OTTHUMG00000165955 AF065856 NR_045002 9787077 PGOHUM00000242603 OR7E14P HGNC:8385 +HGNC:8386 OR7E15P olfactory receptor family 7 subfamily E member 15 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 "OR11-392|OST001" "OR7E80P|OR7E42P" olfactory receptor, family 7, subfamily E, member 15 pseudogene Olfactory receptors, family 7 154 1998-11-09 2015-12-09 2016-08-17 8588 ENSG00000254917 OTTHUMG00000165468 AF065873 NG_002168 9787077 PGOHUM00000303111 OR7E15P HGNC:8386 +HGNC:8387 OR7E16P olfactory receptor family 7 subfamily E member 16 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 "OR19-133|OR19-9" "OR7E60P|OR7E17P" olfactory receptor, family 7, subfamily E, member 16 pseudogene Olfactory receptors, family 7 154 1999-11-29 2015-12-09 2016-07-26 26473 ENSG00000267775 OTTHUMG00000179935 U86252 NG_002189 9500546 PGOHUM00000295184 OR7E16P HGNC:8387 +HGNC:8389 OR7E18P olfactory receptor family 7 subfamily E member 18 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 "OR19-14|TPCR26" "OR7E61|OR7E98P" olfactory receptor, family 7, subfamily E, member 18 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2016-07-26 390885 ENSG00000180926 OTTHUMG00000179939 NG_004360 PGOHUM00000294866 OR7E18P HGNC:8389 +HGNC:8390 OR7E19P olfactory receptor family 7 subfamily E member 19 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 OR19-7 OR7E65 olfactory receptor, family 7, subfamily E, member 19 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2015-12-09 26651 ENSG00000225980 OTTHUMG00000179940 NG_002356 PGOHUM00000250556 OR7E19P HGNC:8390 +HGNC:8393 OR7E21P olfactory receptor family 7 subfamily E member 21 pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 "OR4DG|OST035" "OR7E49P|OR7E127P" olfactory receptor, family 7, subfamily E, member 21 pseudogene Olfactory receptors, family 7 154 1999-04-09 2015-12-09 2017-10-30 9432 ENSG00000251178 OTTHUMG00000159728 NG_004123 10036190 PGOHUM00000299175 OR7E21P HGNC:8393 +HGNC:8394 OR7E22P olfactory receptor family 7 subfamily E member 22 pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 "OR6DG|OR3.6" olfactory receptor, family 7, subfamily E, member 22 pseudogene Olfactory receptors, family 7 154 1999-04-09 2015-12-09 2015-12-09 9431 ENSG00000179799 OTTHUMG00000158823 AF042089 NG_004122 10036190 PGOHUM00000250244 OR7E22P HGNC:8394 +HGNC:8395 OR7E23P olfactory receptor family 7 subfamily E member 23 pseudogene pseudogene pseudogene Approved 21q22.11 21q22.11 OR21-3 OR7E92P olfactory receptor, family 7, subfamily E, member 23 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2016-10-05 391279 ENSG00000228433 OTTHUMG00000064927 AF399396 NG_004368 PGOHUM00000239165 OR7E23P HGNC:8395 +HGNC:8396 OR7E24 olfactory receptor family 7 subfamily E member 24 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "OR19-8|HSHT2|OR7E24Q" OR7E24P "olfactory receptor, family 7, subfamily E, member 24 pseudogene|olfactory receptor, family 7, subfamily E, member 24" Olfactory receptors, family 7 154 1999-12-09 2004-03-05 2015-12-09 2019-08-20 26648 ENSG00000237521 OTTHUMG00000179938 uc002mlb.2 Y10529 NM_001079935 CCDS45955 Q6IFN5 9268701 "MGI:109317|MGI:3030700|MGI:3030702|MGI:3030703|MGI:3030706" RGD:1591011 OR7E24 HGNC:8396 "ENST00000456448.3|NM_001079935.2" +HGNC:8397 OR7E25P olfactory receptor family 7 subfamily E member 25 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 "OR19-C|CIT-B-440L2" olfactory receptor, family 7, subfamily E, member 25 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2016-07-26 26647 ENSG00000187847 OTTHUMG00000154384 NG_004132 PGOHUM00000295185 OR7E25P HGNC:8397 +HGNC:8398 OR7E26P olfactory receptor family 7 subfamily E member 26 pseudogene pseudogene pseudogene Approved 10p13 10p13 "OR1-51|OR1-72|OR1-73|OR912-95" "OR7E67P|OR7E69P|OR7E70P|OR7E68P" olfactory receptor, family 7, subfamily E, member 26 pseudogene Olfactory receptors, family 7 154 1999-11-29 2015-12-09 2015-12-09 401637 ENSG00000228547 OTTHUMG00000017721 U86301 NG_002315 9500546 PGOHUM00000238360 OR7E26P HGNC:8398 +HGNC:8400 OR7E28P olfactory receptor family 7 subfamily E member 28 pseudogene pseudogene pseudogene Approved 2q24.1 02q24.1 "OST128|hg616" "OR7E133P|OR7E107P|OR7E27P" olfactory receptor, family 7, subfamily E, member 28 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2015-12-09 26645 ENSG00000251491 OTTHUMG00000153968 NG_004131 PGOHUM00000240999 OR7E28P HGNC:8400 +HGNC:8401 OR7E29P olfactory receptor family 7 subfamily E member 29 pseudogene pseudogene pseudogene Approved 3q21.2 03q21.2 OST032 olfactory receptor, family 7, subfamily E, member 29 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2017-10-30 26644 ENSG00000243429 OTTHUMG00000159569 NG_004130 PGOHUM00000299563 OR7E29P HGNC:8401 +HGNC:8404 OR7E31P olfactory receptor family 7 subfamily E member 31 pseudogene pseudogene pseudogene Approved 9q22.2 09q22.2 OST205 OR7E32P olfactory receptor, family 7, subfamily E, member 31 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2015-12-09 375601 ENSG00000185074 OTTHUMG00000020192 NG_004666 PGOHUM00000236692 OR7E31P HGNC:8404 +HGNC:8406 OR7E33P olfactory receptor family 7 subfamily E member 33 pseudogene pseudogene pseudogene Approved 13q21.32 13q21.32 hg688 olfactory receptor, family 7, subfamily E, member 33 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2015-12-09 26640 ENSG00000226537 OTTHUMG00000017043 AL353580 NG_002211 PGOHUM00000248622 OR7E33P HGNC:8406 +HGNC:8408 OR7E35P olfactory receptor family 7 subfamily E member 35 pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 OST018 OR7E120 olfactory receptor, family 7, subfamily E, member 35 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2017-10-30 391632 ENSG00000250425 OTTHUMG00000160248 NG_004371 PGOHUM00000300152 OR7E35P HGNC:8408 +HGNC:8409 OR7E36P olfactory receptor family 7 subfamily E member 36 pseudogene pseudogene pseudogene Approved 13q14.11 13q14.11 OST024 OR7E119P olfactory receptor, family 7, subfamily E, member 36 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2016-10-05 26637 ENSG00000205240 OTTHUMG00000016793 AA574056 NG_004129 PGOHUM00000248383 OR7E36P HGNC:8409 +HGNC:8410 OR7E37P olfactory receptor family 7 subfamily E member 37 pseudogene pseudogene pseudogene Approved 13q14.11 13q14.11 hg533 olfactory receptor, family 7, subfamily E, member 37 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2020-04-20 100506759 ENSG00000215480 OTTHUMG00000016795 AL354833 NR_002163 PGOHUM00000249954 OR7E37P HGNC:8410 +HGNC:8411 OR7E38P olfactory receptor family 7 subfamily E member 38 pseudogene pseudogene pseudogene Approved 7q21.3 07q21.3 OST127 OR7E76 olfactory receptor, family 7, subfamily E, member 38 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2015-12-09 389537 ENSG00000183444 OTTHUMG00000154186 NG_002209 PGOHUM00000232925 OR7E38P HGNC:8411 +HGNC:8412 OR7E39P olfactory receptor family 7 subfamily E member 39 pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 hg611 OR7E138P "olfactory receptor, family 7, subfamily E, member 138 pseudogene|olfactory receptor, family 7, subfamily E, member 39 pseudogene" Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2017-10-30 253933 ENSG00000273252 OTTHUMG00000185867 NG_004294 PGOHUM00000302032 OR7E39P HGNC:8412 +HGNC:8415 OR7E41P olfactory receptor family 7 subfamily E member 41 pseudogene pseudogene pseudogene Approved 11p15.2 11p15.2 "OR11-20|hg84|OR8-126" "OR7F6P|OR7E50P|OR7E95P" olfactory receptor, family 7, subfamily E, member 41 pseudogene Olfactory receptors, family 7 154 1998-11-09 2015-12-09 2017-10-30 8583 ENSG00000250640 OTTHUMG00000164630 AF065867 NG_002158 9787077 PGOHUM00000290403 OR7E41P HGNC:8415 +HGNC:8417 OR7E43P olfactory receptor family 7 subfamily E member 43 pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 OR4-116 olfactory receptor, family 7, subfamily E, member 43 pseudogene Olfactory receptors, family 7 154 1999-11-29 2015-12-09 2015-12-09 26475 ENSG00000249844 OTTHUMG00000159869 U86267 NG_002191 9500546 PGOHUM00000250699 OR7E43P HGNC:8417 +HGNC:8420 OR7E46P olfactory receptor family 7 subfamily E member 46 pseudogene pseudogene pseudogene Approved 2p13.3 02p13.3 "OST379|MCEEP" olfactory receptor, family 7, subfamily E, member 46 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2015-12-09 402077 ENSG00000234485 OTTHUMG00000154169 NG_004394 PGOHUM00000240677 OR7E46P HGNC:8420 +HGNC:8421 OR7E47P olfactory receptor family 7 subfamily E member 47 pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 OR7E141 olfactory receptor, family 7, subfamily E, member 47 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2017-11-28 26628 ENSG00000257542 OTTHUMG00000169615 uc058ogd.1 X87825 NG_004128 8647456 PGOHUM00000239782 OR7E47P HGNC:8421 +HGNC:8428 OR7E53P olfactory receptor family 7 subfamily E member 53 pseudogene pseudogene pseudogene Approved 3q21.2 03q21.2 "OR3-143|OR3-142" "OR7E78P|OR7E78|OR7E132P" olfactory receptor, family 7, subfamily E, member 53 pseudogene Olfactory receptors, family 7 154 1999-11-29 2015-12-09 2017-10-30 26478 ENSG00000239978 OTTHUMG00000159565 U86262 NG_002316 9500546 PGOHUM00000299565 OR7E53P HGNC:8428 +HGNC:8430 OR7E55P olfactory receptor family 7 subfamily E member 55 pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 "OR2DG|OR3.2|OST013" OR7E56P olfactory receptor, family 7, subfamily E, member 55 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2017-10-30 391548 ENSG00000230655 OTTHUMG00000158818 NG_004370 PGOHUM00000299062 OR7E55P HGNC:8430 +HGNC:8434 OR7E59P olfactory receptor family 7 subfamily E member 59 pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 OST119 "OR7E59|OR7E137P" olfactory receptor, family 7, subfamily E, member 59 pseudogene Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2020-04-20 402249 ENSG00000250561 OTTHUMG00000158490 NG_004398 PGOHUM00000302035 OR7E59P HGNC:8434 +HGNC:8438 OR7E62P olfactory receptor family 7 subfamily E member 62 pseudogene pseudogene pseudogene Approved 2p13.3 02p13.3 "OR7E62|OR2-53|OR7E63|OR7E64" "OR7E63P|OR7E64P|OR7E82P" olfactory receptor, family 7, subfamily E, member 62 pseudogene Olfactory receptors, family 7 154 1999-11-29 2015-12-09 2015-12-09 26479 ENSG00000234896 OTTHUMG00000154168 U86259 NG_002317 9500546 PGOHUM00000240678 OR7E62P HGNC:8438 +HGNC:8442 OR7E66P olfactory receptor family 7 subfamily E member 66 pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 "hg630|HG630|OR3DG|OR3.3" "OR7E6P|OR7E20P" "olfactory receptor, family 7, subfamily E, member 6 pseudogene|olfactory receptor, family 7, subfamily E, member 20 pseudogene|olfactory receptor, family 7, subfamily E, member 66 pseudogene" Olfactory receptors, family 7 154 1999-12-09 2015-12-09 2017-10-30 26614 ENSG00000243674 OTTHUMG00000158820 NG_004127 10036190 PGOHUM00000299060 OR7E66P HGNC:8442 +HGNC:14688 OR7E83P olfactory receptor family 7 subfamily E member 83 pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 OR7E134P olfactory receptor, family 7, subfamily E, member 83 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2015-12-09 391630 ENSG00000249866 OTTHUMG00000160184 NG_002251 PGOHUM00000259932 OR7E83P HGNC:14688 +HGNC:14690 OR7E84P olfactory receptor family 7 subfamily E member 84 pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 OST185 OR7E54P olfactory receptor, family 7, subfamily E, member 84 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2018-04-30 390288 ENSG00000284689 NG_002276 PGOHUM00000259930 OR7E84P HGNC:14690 +HGNC:55114 OR7E85BP olfactory receptor family 7 subfamily E member 85B pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 Olfactory receptors, family 7 154 2020-07-17 2020-07-17 650293 ENSG00000197468 NG_052560 32126975 PGOHUM00000300120 +HGNC:14692 OR7E85P olfactory receptor family 7 subfamily E member 85 pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 OR7E88P olfactory receptor, family 7, subfamily E, member 85 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2015-12-09 442105 ENSG00000250884 OTTHUMG00000160195 AW009208 NG_002249 PGOHUM00000250756 OR7E85P HGNC:14692 +HGNC:14694 OR7E86P olfactory receptor family 7 subfamily E member 86 pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 olfactory receptor, family 7, subfamily E, member 86 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2015-12-09 442104 ENSG00000248364 OTTHUMG00000160198 NG_002248 PGOHUM00000258184 OR7E86P HGNC:14694 +HGNC:14709 OR7E87P olfactory receptor family 7 subfamily E member 87 pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 OR11-9 "OR7E3P|OR7F3P" olfactory receptor, family 7, subfamily E, member 87 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2015-12-09 8586 ENSG00000184055 OTTHUMG00000057593 AP000867 NG_002164 PGOHUM00000257895 OR7E87P HGNC:14709 +HGNC:14730 OR7E89P olfactory receptor family 7 subfamily E member 89 pseudogene pseudogene pseudogene Approved 2q24.1 02q24.1 olfactory receptor, family 7, subfamily E, member 89 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2015-12-09 79540 ENSG00000243792 OTTHUMG00000153966 NG_002272 PGOHUM00000250477 OR7E89P HGNC:14730 +HGNC:14733 OR7E90P olfactory receptor family 7 subfamily E member 90 pseudogene pseudogene pseudogene Approved 2q24.1 02q24.1 OST705 OR7E123P olfactory receptor, family 7, subfamily E, member 90 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2015-12-09 79537 ENSG00000188668 OTTHUMG00000153972 NG_002271 PGOHUM00000250478 OR7E90P HGNC:14733 +HGNC:14747 OR7E91P olfactory receptor family 7 subfamily E member 91 pseudogene pseudogene pseudogene Approved 2p13.3 02p13.3 olfactory receptor, family 7, subfamily E, member 91 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2015-12-09 79315 ENSG00000205847 OTTHUMG00000154170 BC030991 NR_002185 PGOHUM00000250458 OR7E91P HGNC:14747 +HGNC:14780 OR7E93P olfactory receptor family 7 subfamily E member 93 pseudogene pseudogene pseudogene Approved 3q21.2 03q21.2 OR7E131P olfactory receptor, family 7, subfamily E, member 93 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2017-10-30 79282 ENSG00000228963 OTTHUMG00000159574 NG_002225 PGOHUM00000299564 OR7E93P HGNC:14780 +HGNC:14789 OR7E94P olfactory receptor family 7 subfamily E member 94 pseudogene pseudogene pseudogene Approved 4q21.21 04q21.21 olfactory receptor, family 7, subfamily E, member 94 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2015-12-09 79273 ENSG00000249646 OTTHUMG00000160914 AC013662 NG_002221 PGOHUM00000245607 OR7E94P HGNC:14789 +HGNC:14815 OR7E96P olfactory receptor family 7 subfamily E member 96 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 olfactory receptor, family 7, subfamily E, member 96 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2015-12-09 401450 ENSG00000227013 OTTHUMG00000165410 AC025126 NG_004629 PGOHUM00000258369 OR7E96P HGNC:14815 +HGNC:14834 OR7E97P olfactory receptor family 7 subfamily E member 97 pseudogene pseudogene pseudogene Approved 3q21.2 03q21.2 olfactory receptor, family 7, subfamily E, member 97 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2017-10-30 79492 ENSG00000179170 OTTHUMG00000159566 NG_002256 PGOHUM00000299566 OR7E97P HGNC:14834 +HGNC:15059 OR7E99P olfactory receptor family 7 subfamily E member 99 pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 olfactory receptor, family 7, subfamily E, member 99 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81419 ENSG00000250710 OTTHUMG00000159868 NG_004262 PGOHUM00000259889 OR7E99P HGNC:15059 +HGNC:15048 OR7E100P olfactory receptor family 7 subfamily E member 100 pseudogene pseudogene pseudogene Approved 3q13.2 03q13.2 olfactory receptor, family 7, subfamily E, member 100 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81430 ENSG00000242525 OTTHUMG00000159249 AC024709 NG_004266 PGOHUM00000237722 OR7E100P HGNC:15048 +HGNC:15342 OR7E101P olfactory receptor family 7 subfamily E member 101 pseudogene pseudogene pseudogene Approved 13q14.13 13q14.13 olfactory receptor, family 7, subfamily E, member 101 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81138 ENSG00000227019 OTTHUMG00000016871 AL157365 NG_004175 PGOHUM00000248585 OR7E101P HGNC:15342 +HGNC:15043 OR7E102P olfactory receptor family 7 subfamily E member 102 pseudogene pseudogene pseudogene Approved 2q11.1 02q11.1 OR7E102 olfactory receptor, family 7, subfamily E, member 102 pseudogene Olfactory receptors, family 7 154 2001-03-28 2004-03-10 2015-12-09 2015-12-09 400984 ENSG00000168992 OTTHUMG00000155151 AC009237 NG_004385 PGOHUM00000240793 OR7E102P HGNC:15043 +HGNC:19587 OR7E103P olfactory receptor family 7 subfamily E member 103 pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 OR4D12P "olfactory receptor, family 4, subfamily D, member 12 pseudogene|olfactory receptor family 4 subfamily D member 12 pseudogene" Olfactory receptors, family 7 154 2002-11-04 2019-09-18 2019-09-18 2019-09-18 282754 ENSG00000198787 OTTHUMG00000185806 NG_004296 PGOHUM00000250696 OR7E103P HGNC:19587 +HGNC:15343 OR7E104P olfactory receptor family 7 subfamily E member 104 pseudogene pseudogene pseudogene Approved 13q21.31 13q21.31 olfactory receptor, family 7, subfamily E, member 104 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2018-04-30 81137 ENSG00000219926 OTTHUMG00000017026 AI799130 NG_004174 PGOHUM00000291976 OR7E104P HGNC:15343 +HGNC:15364 OR7E105P olfactory receptor family 7 subfamily E member 105 pseudogene pseudogene pseudogene Approved 14q22.1 14q22.1 olfactory receptor, family 7, subfamily E, member 105 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81116 ENSG00000258423 OTTHUMG00000171078 NG_004171 PGOHUM00000250145 OR7E105P HGNC:15364 +HGNC:15365 OR7E106P olfactory receptor family 7 subfamily E member 106 pseudogene pseudogene pseudogene Approved 14q22.1 14q22.1 OST215 OR7E40P olfactory receptor, family 7, subfamily E, member 106 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81115 ENSG00000258550 OTTHUMG00000171079 NG_004170 PGOHUM00000247800 OR7E106P HGNC:15365 +HGNC:15117 OR7E108P olfactory receptor family 7 subfamily E member 108 pseudogene pseudogene pseudogene Approved 9q22.2 09q22.2 OST726 olfactory receptor, family 7, subfamily E, member 108 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81363 ENSG00000270432 OTTHUMG00000184640 AL354862 NG_004254 PGOHUM00000250505 OR7E108P HGNC:15117 +HGNC:15118 OR7E109P olfactory receptor family 7 subfamily E member 109 pseudogene pseudogene pseudogene Approved 9q22.2 09q22.2 OST721 olfactory receptor, family 7, subfamily E, member 109 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 401540 ENSG00000236316 OTTHUMG00000020198 NG_004386 PGOHUM00000236255 OR7E109P HGNC:15118 +HGNC:15126 OR7E110P olfactory receptor family 7 subfamily E member 110 pseudogene pseudogene pseudogene Approved 10p13 10p13 "hg674|OR912-109|OR912-46|OR912-108|OR912-110|hg523" "OR7E68P|OR7E71P|OR7E72P|OR7E73P|OR7E74P|OR7E75P" olfactory receptor, family 7, subfamily E, member 110 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81354 ENSG00000235623 OTTHUMG00000017715 NG_004251 PGOHUM00000258459 OR7E110P HGNC:15126 +HGNC:55115 OR7E111FP olfactory receptor family 7 subfamily E member 111F pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 Olfactory receptors, family 7 154 2020-07-17 2020-07-17 100288392 ENSG00000250804 NR_051959 32126975 PGOHUM00000300122 +HGNC:15344 OR7E111P olfactory receptor family 7 subfamily E member 111 pseudogene pseudogene pseudogene Approved 13q21.32 13q21.32 olfactory receptor, family 7, subfamily E, member 111 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81136 ENSG00000231667 OTTHUMG00000017042 AC023058 NG_004173 PGOHUM00000248621 OR7E111P HGNC:15344 +HGNC:15127 OR7E115P olfactory receptor family 7 subfamily E member 115 pseudogene pseudogene pseudogene Approved 10p13 10p13 OST704 olfactory receptor, family 7, subfamily E, member 115 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2016-11-09 81353 ENSG00000182531 OTTHUMG00000017719 AL157391 NG_004692 PGOHUM00000289752 OR7E115P HGNC:15127 +HGNC:15122 OR7E116P olfactory receptor family 7 subfamily E member 116 pseudogene pseudogene pseudogene Approved 9q22.2 09q22.2 OST733 olfactory receptor, family 7, subfamily E, member 116 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81358 ENSG00000225072 OTTHUMG00000020193 NG_004253 PGOHUM00000236693 OR7E116P HGNC:15122 +HGNC:15303 OR7E117P olfactory receptor family 7 subfamily E member 117 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OST716 olfactory receptor, family 7, subfamily E, member 117 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 399857 ENSG00000238161 OTTHUMG00000011847 AC060812 NG_004384 PGOHUM00000250354 OR7E117P HGNC:15303 +HGNC:15049 OR7E121P olfactory receptor family 7 subfamily E member 121 pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 olfactory receptor, family 7, subfamily E, member 121 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 402133 ENSG00000244222 OTTHUMG00000158852 AC067827 NG_004395 PGOHUM00000250247 OR7E121P HGNC:15049 +HGNC:15050 OR7E122P olfactory receptor family 7 subfamily E member 122 pseudogene pseudogene pseudogene Approved 3p25.3 03p25.3 OST719 olfactory receptor, family 7, subfamily E, member 122 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81428 ENSG00000215160 OTTHUMG00000155006 AC034187 NG_004265 PGOHUM00000250276 OR7E122P HGNC:15050 +HGNC:15098 OR7E125P olfactory receptor family 7 subfamily E member 125 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 PJCG6 olfactory receptor, family 7, subfamily E, member 125 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 389616 ENSG00000177306 OTTHUMG00000150380 AF228730 NG_004256 PGOHUM00000258311 OR7E125P HGNC:15098 +HGNC:15304 OR7E126P olfactory receptor family 7 subfamily E member 126 pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 "hg500|OR11-1" olfactory receptor, family 7, subfamily E, member 126 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81176 ENSG00000254593 OTTHUMG00000167538 AI085560 NG_002280 PGOHUM00000250410 OR7E126P HGNC:15304 +HGNC:15305 OR7E128P olfactory receptor family 7 subfamily E member 128 pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 olfactory receptor, family 7, subfamily E, member 128 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81175 ENSG00000228915 OTTHUMG00000167537 AP000719 NG_004186 PGOHUM00000257899 OR7E128P HGNC:15305 +HGNC:15052 OR7E129P olfactory receptor family 7 subfamily E member 129 pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 olfactory receptor, family 7, subfamily E, member 129 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 391576 ENSG00000180770 OTTHUMG00000159715 NG_004264 PGOHUM00000250255 OR7E129P HGNC:15052 +HGNC:15053 OR7E130P olfactory receptor family 7 subfamily E member 130 pseudogene pseudogene pseudogene Approved 3q21.2 03q21.2 OST702 olfactory receptor, family 7, subfamily E, member 130 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2017-10-30 389144 ENSG00000234458 OTTHUMG00000159572 NG_004314 PGOHUM00000299562 OR7E130P HGNC:15053 +HGNC:19557 OR7E136P olfactory receptor family 7 subfamily E member 136 pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 "OR7E147P|OR7E139P" olfactory receptor, family 7, subfamily E, member 136 pseudogene Olfactory receptors, family 7 154 2002-11-04 2015-12-09 2015-12-09 155340 ENSG00000205897 OTTHUMG00000158488 NG_004291 PGOHUM00000250851 OR7E136P HGNC:19557 +HGNC:19561 OR7E140P olfactory receptor family 7 subfamily E member 140 pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 olfactory receptor, family 7, subfamily E, member 140 pseudogene Olfactory receptors, family 7 154 2002-11-04 2015-12-09 2017-10-30 344729 ENSG00000238152 OTTHUMG00000168669 NG_004309 PGOHUM00000291215 OR7E140P HGNC:19561 +HGNC:19618 OR7E145P olfactory receptor family 7 subfamily E member 145 pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 olfactory receptor, family 7, subfamily E, member 145 pseudogene Olfactory receptors, family 7 154 2002-11-04 2015-12-09 2017-10-30 390215 ENSG00000235855 OTTHUMG00000167245 NG_004336 PGOHUM00000290568 OR7E145P HGNC:19618 +HGNC:19642 OR7E148P olfactory receptor family 7 subfamily E member 148 pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 OR7E150P olfactory receptor, family 7, subfamily E, member 148 pseudogene Olfactory receptors, family 7 154 2002-11-04 2015-12-09 2017-10-30 282801 ENSG00000214487 OTTHUMG00000168670 NG_004303 PGOHUM00000291216 OR7E148P HGNC:19642 +HGNC:19589 OR7E149P olfactory receptor family 7 subfamily E member 149 pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 olfactory receptor, family 7, subfamily E, member 149 pseudogene Olfactory receptors, family 7 154 2002-11-04 2015-12-09 2017-10-30 282756 ENSG00000177586 OTTHUMG00000168671 NG_004297 PGOHUM00000291217 OR7E149P HGNC:19589 +HGNC:31309 OR7E154P olfactory receptor family 7 subfamily E member 154 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 olfactory receptor, family 7, subfamily E, member 154 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2015-12-09 403296 ENSG00000254715 OTTHUMG00000165389 NG_004634 PGOHUM00000258321 OR7E154P HGNC:31309 +HGNC:31310 OR7E155P olfactory receptor family 7 subfamily E member 155 pseudogene pseudogene pseudogene Approved 13q14.11 13q14.11 olfactory receptor, family 7, subfamily E, member 155 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2015-12-09 403297 ENSG00000234655 OTTHUMG00000016792 NG_004435 PGOHUM00000249943 OR7E155P HGNC:31310 +HGNC:31311 OR7E156P olfactory receptor family 7 subfamily E member 156 pseudogene pseudogene pseudogene Approved 13q21.31 13q21.31 olfactory receptor, family 7, subfamily E, member 156 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2015-12-09 283491 ENSG00000274052 OTTHUMG00000017021 NR_002171 PGOHUM00000292177 OR7E156P HGNC:31311 +HGNC:31231 OR7E157P olfactory receptor family 7 subfamily E member 157 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 olfactory receptor, family 7, subfamily E, member 157 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2015-12-09 403219 ENSG00000233176 OTTHUMG00000150579 NG_004633 PGOHUM00000258357 OR7E157P HGNC:31231 +HGNC:31232 OR7E158P olfactory receptor family 7 subfamily E member 158 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 olfactory receptor, family 7, subfamily E, member 158 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2015-12-09 392194 ENSG00000254948 OTTHUMG00000165308 NG_004376 PGOHUM00000249229 OR7E158P HGNC:31232 +HGNC:31312 OR7E159P olfactory receptor family 7 subfamily E member 159 pseudogene pseudogene pseudogene Approved 14q22.1 14q22.1 olfactory receptor, family 7, subfamily E, member 159 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2015-12-09 403299 ENSG00000258849 OTTHUMG00000171081 NG_004436 PGOHUM00000250105 OR7E159P HGNC:31312 +HGNC:31233 OR7E160P olfactory receptor family 7 subfamily E member 160 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 olfactory receptor, family 7, subfamily E, member 160 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2015-12-09 402333 OTTHUMG00000165315 NG_004399 OR7E160P HGNC:31233 +HGNC:31234 OR7E161P olfactory receptor family 7 subfamily E member 161 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 olfactory receptor, family 7, subfamily E, member 161 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2015-12-09 389626 ENSG00000206014 OTTHUMG00000165472 NG_004315 PGOHUM00000250001 OR7E161P HGNC:31234 +HGNC:28374 OR7E162P olfactory receptor family 7 subfamily E member 162 pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 olfactory receptor, family 7, subfamily E, member 162 pseudogene Olfactory receptors, family 7 154 2005-03-07 2015-12-09 2015-12-09 442101 ENSG00000234386 OTTHUMG00000160265 NG_004863 PGOHUM00000245433 OR7E162P HGNC:28374 +HGNC:45040 OR7E163P olfactory receptor family 7 subfamily E member 163 pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 olfactory receptor, family 7, subfamily E, member 163, pseudogene Olfactory receptors, family 7 154 2013-01-24 2015-12-09 2016-10-05 100131415 ENSG00000251166 OTTHUMG00000160266 PGOHUM00000258166 HGNC:45040 +HGNC:8465 OR7G1 olfactory receptor family 7 subfamily G member 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 OR19-15 OR7G1P olfactory receptor, family 7, subfamily G, member 1 Olfactory receptors, family 7 154 1999-12-07 2015-12-09 2016-04-25 125962 ENSG00000161807 OTTHUMG00000168067 uc021uoi.1 NM_001005192 CCDS32898 Q8NGA0 "MGI:3030663|MGI:3030677|MGI:3030679|MGI:3030684|MGI:3030688" RGD:1334335 OR7G1 HGNC:8465 "ENST00000541538.1|NM_001005192.2" +HGNC:8466 OR7G2 olfactory receptor family 7 subfamily G member 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 OST260 olfactory receptor, family 7, subfamily G, member 2 Olfactory receptors, family 7 154 1999-12-07 2015-12-09 2015-12-09 390882 ENSG00000170923 OTTHUMG00000179931 uc010xkk.2 NM_001005193 CCDS32897 Q8NG99 "MGI:3030662|MGI:3030663|MGI:3030664|MGI:3030669|MGI:3030670|MGI:3030671|MGI:3030677|MGI:3030679|MGI:3030680|MGI:3030681|MGI:3030683|MGI:3030684|MGI:3030685|MGI:3030687|MGI:3030688|MGI:3030689" RGD:1333665 OR7G2 HGNC:8466 "ENST00000641081.1|NM_001005193.2" +HGNC:8467 OR7G3 olfactory receptor family 7 subfamily G member 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 OST085 olfactory receptor, family 7, subfamily G, member 3 Olfactory receptors, family 7 154 1999-12-07 2015-12-09 2015-12-09 390883 ENSG00000170920 OTTHUMG00000165520 uc010xkl.2 NM_001001958 CCDS32899 Q8NG95 "MGI:3030666|MGI:3030668" RGD:1333031 OR7G3 HGNC:8467 "ENST00000305444.2|NM_001001958.1" +HGNC:31313 OR7G15P olfactory receptor family 7 subfamily G member 15 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 olfactory receptor, family 7, subfamily G, member 15 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2016-07-26 403300 ENSG00000275787 OTTHUMG00000187962 NG_004437 PGOHUM00000294864 OR7G15P HGNC:31313 +HGNC:8468 OR7H1P olfactory receptor family 7 subfamily H member 1 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 OR7H1 olfactory receptor, family 7, subfamily H, member 1 pseudogene Olfactory receptors, family 7 154 1999-12-07 2015-12-09 2016-07-26 390886 ENSG00000226480 OTTHUMG00000154386 AF399427 NG_002205 PGOHUM00000294868 OR7H1P HGNC:8468 +HGNC:31314 OR7H2P olfactory receptor family 7 subfamily H member 2 pseudogene pseudogene pseudogene Approved 5q21.1 05q21.1 olfactory receptor, family 7, subfamily H, member 2 pseudogene Olfactory receptors, family 7 154 2004-02-26 2015-12-09 2015-12-09 403301 ENSG00000251261 OTTHUMG00000162751 NG_004438 PGOHUM00000235343 OR7H2P HGNC:31314 +HGNC:15366 OR7K1P olfactory receptor family 7 subfamily K member 1 pseudogene pseudogene pseudogene Approved 14q12 14q12 olfactory receptor, family 7, subfamily K, member 1 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2015-12-09 81114 ENSG00000258275 OTTHUMG00000170313 AL132827 NG_004167 PGOHUM00000248113 OR7K1P HGNC:15366 +HGNC:14827 OR7L1P olfactory receptor family 7 subfamily L member 1 pseudogene pseudogene pseudogene Approved Xq26.2 Xq26.2 olfactory receptor, family 7, subfamily L, member 1 pseudogene Olfactory receptors, family 7 154 2001-02-28 2015-12-09 2015-12-09 79499 ENSG00000232787 OTTHUMG00000022413 NG_002258 PGOHUM00000242015 OR7L1P HGNC:14827 +HGNC:15128 OR7M1P olfactory receptor family 7 subfamily M member 1 pseudogene pseudogene pseudogene Approved 10q26.3 10q26.3 olfactory receptor, family 7, subfamily M, member 1 pseudogene Olfactory receptors, family 7 154 2001-03-28 2015-12-09 2016-08-17 81352 ENSG00000273336 OTTHUMG00000185917 NG_004250 PGOHUM00000290322 OR7M1P HGNC:15128 +HGNC:8469 OR8A1 olfactory receptor family 8 subfamily A member 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 OST025 olfactory receptor, family 8, subfamily A, member 1 Olfactory receptors, family 8 155 1999-12-07 2015-12-09 2015-12-09 390275 ENSG00000196119 OTTHUMG00000165923 uc010san.3 BK004495 NM_001005194 CCDS31712 Q8NGG7 "MGI:1931271|MGI:2661338" RGD:1334242 OR8A1 HGNC:8469 "ENST00000284287.6|NM_001005194.2" +HGNC:15306 OR8A2P olfactory receptor family 8 subfamily A member 2 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily A, member 2 pseudogene Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2015-12-09 390273 ENSG00000255510 OTTHUMG00000165918 NG_004341 PGOHUM00000242922 OR8A2P HGNC:15306 +HGNC:31315 OR8A3P olfactory receptor family 8 subfamily A member 3 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily A, member 3 pseudogene Olfactory receptors, family 8 155 2004-02-26 2015-12-09 2017-10-30 403302 ENSG00000255315 OTTHUMG00000165920 NG_004439 PGOHUM00000291165 OR8A3P HGNC:31315 +HGNC:8470 OR8B1P olfactory receptor family 8 subfamily B member 1 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 OR11-561 OR8B11P olfactory receptor, family 8, subfamily B, member 1 pseudogene Olfactory receptors, family 8 155 1998-11-09 2015-12-09 2015-12-09 8582 ENSG00000227737 OTTHUMG00000154392 AF065875 NG_002156 9787077 PGOHUM00000242525 OR8B1P HGNC:8470 +HGNC:8471 OR8B2 olfactory receptor family 8 subfamily B member 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily B, member 2 Olfactory receptors, family 8 155 1999-12-07 2015-12-09 2018-02-07 26595 ENSG00000284680 OTTHUMG00000165982 uc010sai.3 AB065826 NM_001005468 CCDS31708 Q96RD0 "MGI:2660712|MGI:3030752" RGD:1334039 OR8B2 HGNC:8471 "ENST00000641451.2|NM_001005468.2" +HGNC:8472 OR8B3 olfactory receptor family 8 subfamily B member 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily B, member 3 Olfactory receptors, family 8 155 1999-12-07 2015-12-09 2018-02-07 390271 ENSG00000284609 OTTHUMG00000165983 uc010saj.3 AB065827 NM_001005467 CCDS31709 Q8NGG8 "MGI:2660712|MGI:3030752" OR8B3 HGNC:8472 "ENST00000641139.1|NM_001005467.2" +HGNC:8473 OR8B4 olfactory receptor family 8 subfamily B member 4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 OR8B4P "olfactory receptor, family 8, subfamily B, member 4 (gene/pseudogene)|olfactory receptor family 8 subfamily B member 4 (gene/pseudogene)" Olfactory receptors, family 8 155 1999-12-07 2001-06-29 2020-05-01 2020-05-01 283162 ENSG00000280090 OTTHUMG00000165916 uc010sak.2 AB065831 NM_001005196 CCDS31710 Q96RC9 MGI:3030712 RGD:1333142 OR8B4 HGNC:8473 "ENST00000356130.7|NM_001005196.1" +HGNC:8474 OR8B5P olfactory receptor family 8 subfamily B member 5 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily B, member 5 pseudogene Olfactory receptors, family 8 155 1999-12-07 2015-12-09 2017-10-30 26592 ENSG00000255030 OTTHUMG00000165981 NG_002204 PGOHUM00000290744 OR8B5P HGNC:8474 +HGNC:8475 OR8B6P olfactory receptor family 8 subfamily B member 6 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily B, member 6 pseudogene Olfactory receptors, family 8 155 1999-12-07 2015-12-09 2017-10-30 26591 ENSG00000255225 OTTHUMG00000165980 NG_002203 PGOHUM00000290743 OR8B6P HGNC:8475 +HGNC:8476 OR8B7P olfactory receptor family 8 subfamily B member 7 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 OR8B13P olfactory receptor, family 8, subfamily B, member 7 pseudogene Olfactory receptors, family 8 155 1999-12-07 2015-12-09 2017-10-30 26590 ENSG00000254976 OTTHUMG00000165979 NG_002202 PGOHUM00000290742 OR8B7P HGNC:8476 +HGNC:8477 OR8B8 olfactory receptor family 8 subfamily B member 8 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 TPCR85 olfactory receptor, family 8, subfamily B, member 8 Olfactory receptors, family 8 155 1999-11-29 2015-12-09 2015-12-09 26493 ENSG00000197125 OTTHUMG00000165917 uc010sal.3 AF238488 NM_012378 CCDS8446 Q15620 9119360 MGI:2177528 RGD:1334188 OR8B8 HGNC:8477 "ENST00000642064.1|NM_012378.2" +HGNC:14746 OR8B9P olfactory receptor family 8 subfamily B member 9 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily B, member 9 pseudogene Olfactory receptors, family 8 155 2001-02-28 2015-12-09 2015-12-09 79316 ENSG00000229386 OTTHUMG00000154393 AF179765 NG_002322 PGOHUM00000242528 OR8B9P HGNC:14746 +HGNC:14751 OR8B10P olfactory receptor family 8 subfamily B member 10 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily B, member 10 pseudogene Olfactory receptors, family 8 155 2001-02-28 2015-12-09 2015-12-09 390274 ENSG00000254646 OTTHUMG00000165919 NG_004342 PGOHUM00000242529 OR8B10P HGNC:14751 +HGNC:15307 OR8B12 olfactory receptor family 8 subfamily B member 12 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily B, member 12 Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2015-12-09 219858 ENSG00000170953 OTTHUMG00000165922 uc010sam.3 NM_001005195 CCDS31711 Q8NGG6 "MGI:3030708|MGI:3030709|MGI:3030710" RGD:1334306 OR8B12 HGNC:15307 "ENST00000306842.3|NM_001005195.1" +HGNC:8478 OR8C1P olfactory receptor family 8 subfamily C member 1 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 "OR11-175|OR912-45|OR912-106" "OR8C3P|OR8C4P" olfactory receptor, family 8, subfamily C, member 1 pseudogene Olfactory receptors, family 8 155 1998-11-09 2015-12-09 2015-12-09 8580 ENSG00000229254 OTTHUMG00000154390 AF065872 NG_002154 9787077 PGOHUM00000242526 OR8C1P HGNC:8478 +HGNC:8481 OR8D1 olfactory receptor family 8 subfamily D member 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 OST004 OR8D3 olfactory receptor, family 8, subfamily D, member 1 Olfactory receptors, family 8 155 1999-12-01 2015-12-09 2016-10-05 283159 ENSG00000196341 OTTHUMG00000165977 uc010sag.3 AF238489 NM_001002917 CCDS31706 Q8WZ84 "MGI:109309|MGI:3030767" RGD:631358 OR8D1 HGNC:8481 "ENST00000641015.1|NM_001002917.2" +HGNC:8482 OR8D2 olfactory receptor family 8 subfamily D member 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "olfactory receptor, family 8, subfamily D, member 2 (gene/pseudogene)|olfactory receptor family 8 subfamily D member 2 (gene/pseudogene)" Olfactory receptors, family 8 155 1999-12-01 2020-05-01 2020-05-01 283160 ENSG00000279116 OTTHUMG00000165978 uc010sah.2 AF162668 NM_001002918 Q9GZM6 "MGI:3030758|MGI:3030760" RGD:6499826 OR8D2 HGNC:8482 "ENST00000624618.2|NM_001002918.1" +HGNC:14840 OR8D4 olfactory receptor family 8 subfamily D member 4 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 olfactory receptor, family 8, subfamily D, member 4 Olfactory receptors, family 8 155 2001-02-28 2015-12-09 2015-12-09 338662 ENSG00000181518 OTTHUMG00000165960 uc010saa.3 AB065761 NM_001005197 CCDS31698 Q8NGM9 MGI:3030819 RGD:1333740 OR8D4 HGNC:14840 "ENST00000641687.1|NM_001005197.2" +HGNC:14691 OR8F1P olfactory receptor family 8 subfamily F member 1 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily F, member 1 pseudogene Olfactory receptors, family 8 155 2001-02-28 2015-12-09 2015-12-09 390269 ENSG00000239426 OTTHUMG00000154391 NG_004340 PGOHUM00000257926 OR8F1P HGNC:14691 +HGNC:8484 OR8G1 olfactory receptor family 8 subfamily G member 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "TPCR25|HSTPCR25" OR8G1P "olfactory receptor, family 8, subfamily G, member 1 pseudogene|olfactory receptor, family 8, subfamily G, member 1 (gene/pseudogene)|olfactory receptor family 8 subfamily G member 1 (gene/pseudogene)" Olfactory receptors, family 8 155 1999-11-29 2005-05-16 2020-05-01 2020-05-01 26494 ENSG00000197849 OTTHUMG00000189223 uc031yin.1 AB065946 NM_001002905 CCDS73407 Q15617 9119360 "MGI:109308|MGI:1333829|MGI:3030771|MGI:3030777|MGI:3030779|MGI:3030782|MGI:3030785|MGI:3030788|MGI:3031371" RGD:1333329 PGOHUM00000257928 OR8G1 HGNC:8484 "ENST00000641972.1|NM_001002905.2" +HGNC:8485 OR8G2P olfactory receptor family 8 subfamily G member 2 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 "TPCR120|HSTPCR120|ORL206|ORL486" "OR8G4|OR8G2" "olfactory receptor, family 8, subfamily G, member 2 pseudogene|olfactory receptor, family 8, subfamily G, member 2|olfactory receptor family 8 subfamily G member 2" Olfactory receptors, family 8 155 1999-11-29 2017-02-06 2017-02-06 2021-10-07 26492 ENSG00000181214 OTTHUMG00000154394 X89669 NR_171169 Q6IF36 9119360 "MGI:3030063|MGI:3030805" OR8G2P HGNC:8485 +HGNC:14698 OR8G3P olfactory receptor family 8 subfamily G member 3 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily G, member 3 pseudogene Olfactory receptors, family 8 155 2001-02-28 2015-12-09 2015-12-09 387815 ENSG00000255425 OTTHUMG00000165972 NM_001395906 P0DMU2 "MGI:3030063|MGI:3030805" RGD:1332881 PGOHUM00000250421 OR8G3P HGNC:14698 +HGNC:19622 OR8G5 olfactory receptor family 8 subfamily G member 5 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "OR8G5P|OR8G6" olfactory receptor, family 8, subfamily G, member 5 Olfactory receptors, family 8 155 2002-11-04 2004-03-10 2015-12-09 2016-10-05 219865 ENSG00000255298 OTTHUMG00000186059 uc031yio.1 BK004516 NM_001005198 CCDS66256 Q8NG78 "MGI:2660711|MGI:3030769" RGD:1334310 PGOHUM00000257929 OR8G5 HGNC:19622 "ENST00000641992.2|NM_001005198.2" +HGNC:19625 OR8G7P olfactory receptor family 8 subfamily G member 7 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily G, member 7 pseudogene Olfactory receptors, family 8 155 2002-11-04 2015-12-09 2016-10-05 282786 ENSG00000276316 OTTHUMG00000165974 NG_004628 PGOHUM00000291162 OR8G7P HGNC:19625 +HGNC:14824 OR8H1 olfactory receptor family 8 subfamily H member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily H, member 1 Olfactory receptors, family 8 155 2001-02-28 2015-12-09 2016-10-05 219469 ENSG00000181693 OTTHUMG00000162671 uc010rje.3 AB065836 NM_001005199 CCDS31526 Q8NGG4 "MGI:3030931|MGI:3030932|MGI:3030933|MGI:3030934" OR8H1 HGNC:14824 "ENST00000641600.1|NM_001005199.2" +HGNC:15308 OR8H2 olfactory receptor family 8 subfamily H member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily H, member 2 Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2016-10-05 390151 ENSG00000181767 OTTHUMG00000166832 uc010riy.2 AB065657 NM_001005200 CCDS31518 Q8N162 "MGI:3030931|MGI:3030932|MGI:3030933|MGI:3030934" RGD:1333046 OR8H2 HGNC:15308 "ENST00000313503.2|NM_001386064.1" +HGNC:15309 OR8H3 olfactory receptor family 8 subfamily H member 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily H, member 3 Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2016-10-05 390152 ENSG00000181761 OTTHUMG00000166833 uc001nii.1 AB065840 NM_001005201 CCDS31519 Q8N146 "MGI:3030931|MGI:3030932|MGI:3030933|MGI:3030934" RGD:1333246 OR8H3 HGNC:15309 "ENST00000313472.3|NM_001005201.1" +HGNC:14828 OR8I1P olfactory receptor family 8 subfamily I member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily I, member 1 pseudogene Olfactory receptors, family 8 155 2001-02-28 2015-12-09 2015-12-09 79498 ENSG00000255461 OTTHUMG00000166854 NG_004147 PGOHUM00000242272 OR8I1P HGNC:14828 +HGNC:15310 OR8I2 olfactory receptor family 8 subfamily I member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily I, member 2 Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2016-10-05 120586 ENSG00000172154 OTTHUMG00000166831 uc010rix.2 AB065656 NM_001003750 CCDS31517 Q8N0Y5 MGI:3030938 RGD:1334050 OR8I2 HGNC:15310 "ENST00000302124.8|NM_001003750.1" +HGNC:31316 OR8I4P olfactory receptor family 8 subfamily I member 4 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily I, member 4 pseudogene Olfactory receptors, family 8 155 2004-02-26 2015-12-09 2017-10-30 403303 ENSG00000254524 OTTHUMG00000166839 NG_004635 OR8I4P HGNC:31316 +HGNC:14855 OR8J1 olfactory receptor family 8 subfamily J member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily J, member 1 Olfactory receptors, family 8 155 2001-02-28 2015-12-09 2016-10-05 219477 ENSG00000172487 OTTHUMG00000166859 uc010rjh.2 AB065748 NM_001005205 CCDS31529 Q8NGP2 "MGI:3030879|MGI:3030891|MGI:3030896" OR8J1 HGNC:14855 "ENST00000533152.3|NM_001005205.3" +HGNC:15311 OR8J2 olfactory receptor family 8 subfamily J member 2 (gene/pseudogene) protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR8J2P "olfactory receptor, family 8, subfamily J, member 2 pseudogene|olfactory receptor, family 8, subfamily J, member 2 (gene/pseudogene)" Olfactory receptors, family 8 155 2001-03-28 2008-06-11 2015-12-09 2015-12-09 81169 ENSG00000254658 OTTHUMG00000166850 uc058bjz.1 NR_173147 Q8NGG1 18989455 RGD:6501009 PGOHUM00000242271 OR8J2P HGNC:15311 +HGNC:15312 OR8J3 olfactory receptor family 8 subfamily J member 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily J, member 3 Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2016-10-05 81168 ENSG00000167822 OTTHUMG00000166834 uc010riz.2 NM_001004064 CCDS31520 Q8NGG0 "MGI:3030879|MGI:3030891|MGI:3030896" RGD:1333455 OR8J3 HGNC:15312 "ENST00000642058.1|NM_001004064.2" +HGNC:14831 OR8K1 olfactory receptor family 8 subfamily K member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily K, member 1 Olfactory receptors, family 8 155 2001-02-28 2015-12-09 2016-10-05 390157 ENSG00000150261 OTTHUMG00000166858 uc010rjg.2 AB065835 NM_001002907 CCDS31528 Q8NGG5 MGI:3030880 RGD:1333365 OR8K1 HGNC:14831 "ENST00000279783.5|NM_001002907.1" +HGNC:14832 OR8K2P olfactory receptor family 8 subfamily K member 2 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily K, member 2 pseudogene Olfactory receptors, family 8 155 2001-02-28 2015-12-09 2015-12-09 79494 ENSG00000255134 OTTHUMG00000166857 NG_004146 PGOHUM00000242724 OR8K2P HGNC:14832 +HGNC:15313 OR8K3 olfactory receptor family 8 subfamily K member 3 (gene/pseudogene) protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily K, member 3 (gene/pseudogene) Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2016-10-11 219473 ENSG00000280314 OTTHUMG00000166855 uc010rjf.2 AB065541 NM_001005202 Q8NH51 "MGI:3030062|MGI:3030881|MGI:3030888|MGI:3030892|MGI:3030895|MGI:3030899|MGI:3030900|MGI:3030910|MGI:3030913|MGI:3030914|MGI:3030916|MGI:3030918|MGI:3030919|MGI:3030921|MGI:3030923|MGI:3030924" RGD:1332674 OR8K3 HGNC:15313 "ENST00000641662.1|NM_001005202.2" +HGNC:15314 OR8K4P olfactory receptor family 8 subfamily K member 4 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily K, member 4 pseudogene Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2015-12-09 81166 ENSG00000254947 OTTHUMG00000166842 NG_004184 PGOHUM00000242268 OR8K4P HGNC:15314 +HGNC:15315 OR8K5 olfactory receptor family 8 subfamily K member 5 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily K, member 5 Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2016-10-05 219453 ENSG00000181752 OTTHUMG00000166820 uc010rja.2 BK004347 NM_001004058 CCDS31521 Q8NH50 "MGI:3030842|MGI:3030882|MGI:3030883|MGI:3030885|MGI:3030887" RGD:6501552 OR8K5 HGNC:15315 "ENST00000313447.1|NM_001004058.2" +HGNC:15316 OR8L1P olfactory receptor family 8 subfamily L member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily L, member 1 pseudogene Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2015-12-09 81164 ENSG00000254903 OTTHUMG00000166871 NG_004183 PGOHUM00000242726 OR8L1P HGNC:15316 +HGNC:15317 OR8Q1P olfactory receptor family 8 subfamily Q member 1 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily Q, member 1 pseudogene Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2015-12-09 81163 ENSG00000255341 OTTHUMG00000165924 NG_004182 PGOHUM00000242924 OR8Q1P HGNC:15317 +HGNC:15318 OR8R1P olfactory receptor family 8 subfamily R member 1 pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 olfactory receptor, family 8, subfamily R, member 1 pseudogene Olfactory receptors, family 8 155 2001-03-28 2015-12-09 2015-12-09 81162 ENSG00000256347 OTTHUMG00000167968 AP002351 NG_004181 PGOHUM00000242796 OR8R1P HGNC:15318 +HGNC:19628 OR8S1 olfactory receptor family 8 subfamily S member 1 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 olfactory receptor, family 8, subfamily S, member 1 Olfactory receptors, family 8 155 2002-11-04 2015-12-09 2019-08-20 341568 ENSG00000284723 OTTHUMG00000170021 uc010slu.2 NM_001390849 CCDS31789 Q8NH09 "MGI:3030116|MGI:3030117" RGD:1333494 OR8S1 HGNC:19628 +HGNC:31317 OR8S21P olfactory receptor family 8 subfamily S member 21 pseudogene pseudogene pseudogene Approved 12q13.11 12q13.11 olfactory receptor, family 8, subfamily S, member 21 pseudogene Olfactory receptors, family 8 155 2004-02-26 2015-12-09 2017-10-30 403304 ENSG00000273434 OTTHUMG00000185952 NG_005823 HGNC:31317 +HGNC:19630 OR8T1P olfactory receptor family 8 subfamily T member 1 pseudogene pseudogene pseudogene Approved 12q13.11 12q13.11 olfactory receptor, family 8, subfamily T, member 1 pseudogene Olfactory receptors, family 8 155 2002-11-04 2015-12-09 2016-10-05 282791 ENSG00000226413 OTTHUMG00000154311 NG_004301 PGOHUM00000239445 OR8T1P HGNC:19630 +HGNC:19611 OR8U1 olfactory receptor family 8 subfamily U member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily U, member 1 Olfactory receptors, family 8 155 2002-11-04 2015-12-09 2016-10-05 219417 ENSG00000172199 OTTHUMG00000166860 uc031xpd.1 AB065603 NM_001005204 CCDS41647 Q8NH10 MGI:1333748 RGD:1334276 OR8U1 HGNC:19611 "ENST00000302270.1|NM_001005204.1" +HGNC:14841 OR8U3 olfactory receptor family 8 subfamily U member 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "OR5R1P|OR5R1" "olfactory receptor, family 5, subfamily R, member 1 (gene/pseudogene)|olfactory receptor family 5 subfamily R member 1 (gene/pseudogene)|olfactory receptor family 5 subfamily R member 1" Olfactory receptors, family 8 155 2001-02-28 2020-08-04 2020-08-04 2020-08-04 219479 ENSG00000279961 OTTHUMG00000154219 uc010rji.2 AB065504 NM_001004744 Q8NH85 MGI:3030872 RGD:1332967 OR5R1 HGNC:14841 "ENST00000623286.1|NM_001004744.1" +HGNC:27538 OR8U8 olfactory receptor family 8 subfamily U member 8 protein-coding gene gene with protein product Approved 11q1 alternate reference locus 11q1 alternate reference locus olfactory receptor, family 8, subfamily U, member 8 Olfactory receptors, family 8 155 2005-03-15 2015-12-09 2015-12-09 504189 uc058jjg.1 JH159136 NM_001013356 P0C7N1 MGI:1333748 OR8U8 +HGNC:29166 OR8U9 olfactory receptor family 8 subfamily U member 9 protein-coding gene gene with protein product Approved 11q1 alternate reference locus 11q1 alternate reference locus olfactory receptor, family 8, subfamily U, member 9 Olfactory receptors, family 8 155 2005-03-15 2015-12-09 2015-12-09 504190 JH159136 NM_001013357 P0C7N5 MGI:3030878 OR8U9 +HGNC:19613 OR8V1P olfactory receptor family 8 subfamily V member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 8, subfamily V, member 1 pseudogene Olfactory receptors, family 8 155 2002-11-04 2015-12-09 2016-10-05 282776 ENSG00000230213 OTTHUMG00000154220 NG_004299 PGOHUM00000242269 OR8V1P HGNC:19613 +HGNC:31318 OR8X1P olfactory receptor family 8 subfamily X member 1 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 8, subfamily X, member 1 pseudogene Olfactory receptors, family 8 155 2004-02-26 2015-12-09 2015-12-09 403305 ENSG00000255048 OTTHUMG00000165984 NG_004440 PGOHUM00000242527 OR8X1P HGNC:31318 +HGNC:8486 OR9A1P olfactory receptor family 9 subfamily A member 1 pseudogene pseudogene pseudogene Approved 7q34 07q34 "HTPCRX06|HSHTPCRX06" OR9A1 olfactory receptor, family 9, subfamily A, member 1 pseudogene Olfactory receptors, family 9 156 1999-11-29 2015-12-09 2015-12-09 26495 ENSG00000237621 OTTHUMG00000158540 X64982 NG_002195 Q8NGU1 1370859 MGI:3030295 PGOHUM00000233601 OR9A1P HGNC:8486 +HGNC:15093 OR9A2 olfactory receptor family 9 subfamily A member 2 protein-coding gene gene with protein product Approved 7q34 07q34 olfactory receptor, family 9, subfamily A, member 2 Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 135924 ENSG00000179468 OTTHUMG00000158386 uc003wcc.2 NM_001001658 CCDS34767 Q8NGT5 MGI:3030293 RGD:1562066 OR9A2 HGNC:15093 "ENST00000350513.3|NM_001001658.1" +HGNC:15094 OR9A3P olfactory receptor family 9 subfamily A member 3 pseudogene pseudogene pseudogene Approved 7q34 07q34 OR9A6P olfactory receptor, family 9, subfamily A, member 3 pseudogene Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 392106 ENSG00000240031 OTTHUMG00000158371 NG_004372 PGOHUM00000233600 OR9A3P HGNC:15094 +HGNC:15095 OR9A4 olfactory receptor family 9 subfamily A member 4 protein-coding gene gene with protein product Approved 7q34 07q34 olfactory receptor, family 9, subfamily A, member 4 Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 130075 ENSG00000258083 OTTHUMG00000158370 uc003vwu.2 NM_001001656 CCDS43661 Q8NGU2 MGI:3030294 RGD:1332737 OR9A4 HGNC:15095 "ENST00000641559.1|NM_001001656.3" +HGNC:15319 OR9G1 olfactory receptor family 9 subfamily G member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR9G5 olfactory receptor, family 9, subfamily G, member 1 Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2016-10-05 390174 ENSG00000174914 OTTHUMG00000167112 uc010rjn.2 AB065500 NM_001005213 CCDS31536 Q8NH87 "MGI:3030847|MGI:3030850" RGD:1332820 OR9G1 HGNC:15319 "ENST00000642097.1|NM_001005213.2" +HGNC:15320 OR9G2P olfactory receptor family 9 subfamily G member 2 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 OR9G6 olfactory receptor, family 9, subfamily G, member 2 pseudogene Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 81160 ENSG00000254825 OTTHUMG00000166933 NG_004180 PGOHUM00000242284 OR9G2P HGNC:15320 +HGNC:15321 OR9G3P olfactory receptor family 9 subfamily G member 3 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 9, subfamily G, member 3 pseudogene Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 81159 ENSG00000181325 OTTHUMG00000166931 NG_004179 PGOHUM00000242733 OR9G3P HGNC:15321 +HGNC:15322 OR9G4 olfactory receptor family 9 subfamily G member 4 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 9, subfamily G, member 4 Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2016-10-05 283189 ENSG00000172457 OTTHUMG00000166932 uc010rjo.3 BK004400 NM_001005284 CCDS31537 Q8NGQ1 "MGI:3030840|MGI:3030849" RGD:1334313 OR9G4 HGNC:15322 "ENST00000641668.1|NM_001005284.2" +HGNC:31940 OR9G9 olfactory receptor family 9 subfamily G member 9 protein-coding gene gene with protein product Approved 11q11 alternate reference locus 11q11 alternate reference locus olfactory receptor, family 9, subfamily G, member 9 Olfactory receptors, family 9 156 2005-03-15 2015-12-09 2015-12-09 504191 uc031ykq.1 JH159137 NM_001013358 P0C7N8 "MGI:3030847|MGI:3030848|MGI:3030850" OR9G9 +HGNC:15038 OR9H1P olfactory receptor family 9 subfamily H member 1 pseudogene pseudogene pseudogene Approved 1q44 01q44 olfactory receptor, family 9, subfamily H, member 1 pseudogene Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 81439 ENSG00000228336 OTTHUMG00000040209 NR_172917 RGD:1333425 PGOHUM00000245300 OR9H1P HGNC:15038 +HGNC:14718 OR9I1 olfactory receptor family 9 subfamily I member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 9, subfamily I, member 1 Olfactory receptors, family 9 156 2001-02-28 2015-12-09 2015-12-09 219954 ENSG00000172377 OTTHUMG00000167404 uc001nml.1 AB065733 NM_001005211 CCDS31542 Q8NGQ6 "MGI:3031336|MGI:3031339" RGD:1333930 OR9I1 HGNC:14718 "ENST00000641439.1|NM_001005211.2" HGNC:14718 +HGNC:15324 OR9I2P olfactory receptor family 9 subfamily I member 2 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 9, subfamily I, member 2 pseudogene Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 81156 ENSG00000186508 OTTHUMG00000154293 AF179762 NG_002279 PGOHUM00000242741 OR9I2P HGNC:15324 +HGNC:15325 OR9I3P olfactory receptor family 9 subfamily I member 3 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 OST714 olfactory receptor, family 9, subfamily I, member 3 pseudogene Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2017-10-30 81155 ENSG00000272685 OTTHUMG00000186071 NG_004178 PGOHUM00000290526 OR9I3P HGNC:15325 +HGNC:15338 OR9K1P olfactory receptor family 9 subfamily K member 1 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 9, subfamily K, member 1 pseudogene Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 121360 ENSG00000196534 OTTHUMG00000154383 NG_004285 PGOHUM00000239797 OR9K1P HGNC:15338 +HGNC:15339 OR9K2 olfactory receptor family 9 subfamily K member 2 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 olfactory receptor, family 9, subfamily K, member 2 Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2016-11-09 441639 ENSG00000170605 OTTHUMG00000169827 uc010spe.3 BK004326 NM_001005243 CCDS31814 Q8NGE7 "MGI:3030659|MGI:3030660" RGD:1333055 OR9K2 HGNC:15339 "ENST00000641329.1|NM_001005243.2" +HGNC:14761 OR9L1P olfactory receptor family 9 subfamily L member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 OR9L2P olfactory receptor, family 9, subfamily L, member 1 pseudogene Olfactory receptors, family 9 156 2001-02-28 2015-12-09 2015-12-09 79301 ENSG00000255131 OTTHUMG00000167403 AC018807 NG_002233 PGOHUM00000242295 OR9L1P HGNC:14761 +HGNC:15327 OR9M1P olfactory receptor family 9 subfamily M member 1, pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 OR5BG1P olfactory receptor, family 5, subfamily BG, member 1 pseudogene Olfactory receptors, family 9 156 2001-03-28 2018-01-12 2018-01-12 81153 ENSG00000186124 OTTHUMG00000154234 NG_004177 OR9M1P HGNC:15327 +HGNC:15096 OR9N1P olfactory receptor family 9 subfamily N member 1 pseudogene pseudogene pseudogene Approved 7q34 07q34 olfactory receptor, family 9, subfamily N, member 1 pseudogene Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 81383 ENSG00000244292 OTTHUMG00000158369 NG_004258 PGOHUM00000233602 OR9N1P HGNC:15096 +HGNC:15097 OR9P1P olfactory receptor family 9 subfamily P member 1 pseudogene pseudogene pseudogene Approved 7q34 07q34 OR9P2P olfactory receptor, family 9, subfamily P, member 1 pseudogene Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 81382 ENSG00000239293 OTTHUMG00000154319 NG_004257 PGOHUM00000233048 OR9P1P HGNC:15097 +HGNC:14724 OR9Q1 olfactory receptor family 9 subfamily Q member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 9, subfamily Q, member 1 Olfactory receptors, family 9 156 2001-02-28 2015-12-09 2020-04-01 219956 ENSG00000186509 OTTHUMG00000167413 uc001nmj.4 AB065734 NM_001005212 CCDS31543 Q8NGQ5 MGI:3031334 RGD:1334108 OR9Q1 HGNC:14724 "ENST00000335397.3|NM_001005212.4" +HGNC:15328 OR9Q2 olfactory receptor family 9 subfamily Q member 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR9Q2P olfactory receptor, family 9, subfamily Q, member 2 Olfactory receptors, family 9 156 2001-03-28 2004-03-10 2015-12-09 2015-12-09 219957 ENSG00000186513 OTTHUMG00000167414 uc010rka.2 AB065859 NM_001005283 CCDS31544 Q8NGE9 MGI:3031331 RGD:1333595 OR9Q2 HGNC:15328 "ENST00000641291.1|NM_001005283.3" +HGNC:15340 OR9R1P olfactory receptor family 9 subfamily R member 1 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 9, subfamily R, member 1 pseudogene Olfactory receptors, family 9 156 2001-03-28 2015-12-09 2015-12-09 81140 ENSG00000224622 OTTHUMG00000154376 NG_004176 PGOHUM00000239798 OR9R1P HGNC:15340 +HGNC:31288 OR9S24P olfactory receptor family 9 subfamily S member 24 pseudogene pseudogene pseudogene Approved 2q37.3 02q37.3 OR5J6P "olfactory receptor, family 5, subfamily J, member 6 pseudogene|olfactory receptor, family 9, subfamily S, member 24 pseudogene" Olfactory receptors, family 9 156 2004-02-26 2006-11-22 2015-12-09 2017-10-30 403275 ENSG00000231278 OTTHUMG00000152395 NG_005821 PGOHUM00000298921 OR9S24P HGNC:31288 +HGNC:8161 OR10A2 olfactory receptor family 10 subfamily A member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OST363 OR10A2P olfactory receptor, family 10, subfamily A, member 2 Olfactory receptors, family 10 157 1999-12-01 2004-03-10 2015-12-09 2015-12-09 341276 ENSG00000170790 OTTHUMG00000165739 uc001meu.2 BK004293 NM_001004460 CCDS31415 Q9H208 MGI:3030548 RGD:1334002 OR10A2 HGNC:8161 "ENST00000641461.1|NM_001004460.2" +HGNC:8162 OR10A3 olfactory receptor family 10 subfamily A member 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "HTPCRX12|HSHTPCRX12" olfactory receptor, family 10, subfamily A, member 3 Olfactory receptors, family 10 157 1999-11-29 2015-12-09 2015-12-09 26496 ENSG00000170683 OTTHUMG00000165672 uc010rbi.3 BK004404 NM_001003745 CCDS31421 P58181 1370859 "MGI:3030350|MGI:3030352" RGD:1333752 OR10A3 HGNC:8162 "ENST00000642047.1|NM_001003745.2" +HGNC:15130 OR10A4 olfactory receptor family 10 subfamily A member 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR10A4P "olfactory receptor, family 10, subfamily A, member 4 pseudogene|olfactory receptor, family 10, subfamily A, member 4" Olfactory receptors, family 10 157 2001-03-28 2004-03-10 2015-12-09 2015-12-09 283297 ENSG00000170782 OTTHUMG00000165740 uc010rat.2 AF209506 NM_207186 CCDS7774 Q9H209 MGI:109148 RGD:1333909 OR10A4 HGNC:15130 "ENST00000379829.2|NM_207186.2" +HGNC:15131 OR10A5 olfactory receptor family 10 subfamily A member 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "OR11-403|JCG6" OR10A1 olfactory receptor, family 10, subfamily A, member 5 Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 144124 ENSG00000166363 OTTHUMG00000165738 uc001met.2 AF324499 NM_178168 CCDS7773 Q9H207 MGI:3030547 RGD:1332598 608493 OR10A5 HGNC:15131 "ENST00000299454.5|NM_178168.1" +HGNC:15132 OR10A6 olfactory receptor family 10 subfamily A member 6 (gene/pseudogene) protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 10, subfamily A, member 6 (gene/pseudogene) Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2016-10-10 390093 ENSG00000279000 OTTHUMG00000165671 uc010rbh.2 AB065515 NM_001004461 Q8NH74 MGI:3030351 RGD:1334387 OR10A6 HGNC:15132 "ENST00000641238.1|NM_001004461.2" +HGNC:15329 OR10A7 olfactory receptor family 10 subfamily A member 7 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 olfactory receptor, family 10, subfamily A, member 7 Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2016-11-09 121364 ENSG00000179919 OTTHUMG00000169860 uc010spf.2 BK004327 NM_001005280 CCDS31815 Q8NGE5 RGD:1332869 OR10A7 HGNC:15329 "ENST00000326258.1|NM_001005280.1" +HGNC:14989 OR10AA1P olfactory receptor family 10 subfamily AA member 1 pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 olfactory receptor, family 10, subfamily AA, member 1 pseudogene Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 81487 ENSG00000180409 OTTHUMG00000022779 NG_004278 PGOHUM00000244300 OR10AA1P HGNC:14989 +HGNC:14804 OR10AB1P olfactory receptor family 10 subfamily AB member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 10, subfamily AB, member 1 pseudogene Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 390091 ENSG00000176716 OTTHUMG00000185959 NG_004153 RGD:1592197 OR10AB1P HGNC:14804 +HGNC:14758 OR10AC1 olfactory receptor family 10 subfamily AC member 1 (gene/pseudogene) protein-coding gene gene with protein product Approved 7q35 07q35 OR10AC1P "olfactory receptor, family 10, subfamily AC, member 1 pseudogene|olfactory receptor, family 10, subfamily AC, member 1 (gene/pseudogene)" Olfactory receptors, family 10 157 2001-02-28 2014-10-02 2015-12-09 2015-12-09 392133 ENSG00000176510 OTTHUMG00000155896 NR_145518 Q8NH08 MGI:3030289 RGD:1333381 PGOHUM00000233051 OR10AC1P HGNC:14758 +HGNC:14819 OR10AD1 olfactory receptor family 10 subfamily AD member 1 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 OR10AD1P "olfactory receptor, family 10, subfamily AD, member 1 pseudogene|olfactory receptor, family 10, subfamily AD, member 1" Olfactory receptors, family 10 157 2001-02-28 2002-11-15 2015-12-09 2015-12-09 121275 ENSG00000172640 OTTHUMG00000168027 uc001rrl.2 NM_001004134 CCDS31787 Q8NGE0 "MGI:3030120|MGI:3030121|MGI:3030122" RGD:1560560 OR10AD1 HGNC:14819 "ENST00000310248.4|NM_001004134.1" +HGNC:14990 OR10AE1P olfactory receptor family 10 subfamily AE member 1 pseudogene pseudogene pseudogene Approved 1q23.2 01q23.2 OR10AE2P olfactory receptor, family 10, subfamily AE, member 1 pseudogene Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 81486 ENSG00000271890 OTTHUMG00000185685 NG_004277 OR10AE1P HGNC:14990 +HGNC:31235 OR10AE3P olfactory receptor family 10 subfamily AE member 3 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 10, subfamily AE, member 3 pseudogene Olfactory receptors, family 10 157 2004-02-26 2015-12-09 2017-10-30 403223 ENSG00000272837 OTTHUMG00000185941 NG_004401 OR10AE3P HGNC:31235 +HGNC:19606 OR10AF1P olfactory receptor family 10 subfamily AF member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 10, subfamily AF, member 1 pseudogene Olfactory receptors, family 10 157 2002-11-04 2015-12-09 2017-10-30 282769 ENSG00000255416 OTTHUMG00000166822 NG_004298 PGOHUM00000290494 OR10AF1P HGNC:19606 +HGNC:19607 OR10AG1 olfactory receptor family 10 subfamily AG member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 10, subfamily AG, member 1 Olfactory receptors, family 10 157 2002-11-04 2015-12-09 2016-10-05 282770 ENSG00000174970 OTTHUMG00000166824 uc010rit.2 AB065594 NM_001005491 CCDS31514 Q8NH19 "MGI:3030956|MGI:3030957" RGD:1333264 OR10AG1 HGNC:19607 "ENST00000641071.2|NM_001005491.2" +HGNC:19647 OR10AH1P olfactory receptor family 10 subfamily AH member 1 pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 olfactory receptor, family 10, subfamily AH, member 1 pseudogene Olfactory receptors, family 10 157 2002-11-04 2015-12-09 2018-04-30 402246 ENSG00000272595 OTTHUMG00000185863 NG_004397 PGOHUM00000233105 OR10AH1P HGNC:19647 +HGNC:31236 OR10AK1P olfactory receptor family 10 subfamily AK member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 10, subfamily AK, member 1 pseudogene Olfactory receptors, family 10 157 2004-02-26 2015-12-09 2017-10-30 403224 ENSG00000254807 OTTHUMG00000166823 NG_004402 PGOHUM00000290495 OR10AK1P HGNC:31236 +HGNC:8163 OR10B1P olfactory receptor family 10 subfamily B member 1 pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 OR10B2 olfactory receptor, family 10, subfamily B, member 1 pseudogene Olfactory receptors, family 10 157 1999-12-01 2015-12-09 2016-07-26 401903 ENSG00000267961 OTTHUMG00000183216 AC003956 NG_002201 PGOHUM00000294891 OR10B1P HGNC:8163 +HGNC:8165 OR10C1 olfactory receptor family 10 subfamily C member 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "hs6M1-17|OR10C1P" OR10C2 "olfactory receptor, family 10, subfamily C, member 2|olfactory receptor, family 10, subfamily C, member 1|olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)|olfactory receptor family 10 subfamily C member 1 (gene/pseudogene)" Olfactory receptors, family 10 157 1999-12-01 2020-05-01 2020-05-01 442194 ENSG00000206474 OTTHUMG00000031207 uc011hhs.3 NM_013941 CCDS34364 Q96KK4 MGI:2177478 RGD:1332620 OR10C1 HGNC:8165 "ENST00000444197.3|NM_013941.4" +HGNC:8166 OR10D1P olfactory receptor family 10 subfamily D member 1 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 "OST074|HTPCRX03" OR10D2P olfactory receptor, family 10, subfamily D, member 1 pseudogene Olfactory receptors, family 10 157 1999-12-01 2015-12-09 2015-12-09 26541 ENSG00000196403 OTTHUMG00000154292 X64981 NG_004126 PGOHUM00000257925 OR10D1P HGNC:8166 +HGNC:8168 OR10D3 olfactory receptor family 10 subfamily D member 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 HTPCRX09 OR10D3P "olfactory receptor, family 10, subfamily D, member 3 pseudogene|olfactory receptor, family 10, subfamily D, member 3 (non-functional)|olfactory receptor family 10 subfamily D member 3 (putative)" Olfactory receptors, family 10 157 1999-11-29 2010-06-25 2020-07-16 2020-07-16 26497 ENSG00000197309 OTTHUMG00000165166 uc001pzv.3 X64983 NM_001355213 CCDS86257 Q8NH80 1370859 MGI:3030792 RGD:1333668 OR10D3 HGNC:8168 +HGNC:14770 OR10D4P olfactory receptor family 10 subfamily D member 4 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 "OR10D4|OR10D6P" olfactory receptor, family 10, subfamily D, member 4 pseudogene Olfactory receptors, family 10 157 2001-02-28 2004-03-10 2015-12-09 2015-12-09 390266 ENSG00000186268 OTTHUMG00000165970 NG_003196 Q8NGN7 "MGI:3030794|MGI:3030795|MGI:3030797" RGD:1333074 PGOHUM00000257866 OR10D4P HGNC:14770 +HGNC:14838 OR10D5P olfactory receptor family 10 subfamily D member 5 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 10, subfamily D, member 5 pseudogene Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 79488 ENSG00000213182 OTTHUMG00000154389 NG_002254 PGOHUM00000242916 OR10D5P HGNC:14838 +HGNC:8169 OR10G1P olfactory receptor family 10 subfamily G member 1 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 10, subfamily G, member 1 pseudogene Olfactory receptors, family 10 157 1999-12-01 2015-12-09 2015-12-09 26540 ENSG00000273586 OTTHUMG00000188541 NG_027250 8188290 PGOHUM00000292292 OR10G1P HGNC:8169 +HGNC:8170 OR10G2 olfactory receptor family 10 subfamily G member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 10, subfamily G, member 2 Olfactory receptors, family 10 157 1999-12-01 2015-12-09 2015-12-09 26534 ENSG00000255582 OTTHUMG00000168890 uc032ate.2 NM_001005466 CCDS32047 Q8NGC3 8188290 "MGI:3031344|MGI:3031345" RGD:1333427 OR10G2 HGNC:8170 "ENST00000542433.1|NM_001005466.2" +HGNC:8171 OR10G3 olfactory receptor family 10 subfamily G member 3 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 10, subfamily G, member 3 Olfactory receptors, family 10 157 1999-12-01 2015-12-09 2015-12-09 26533 ENSG00000169208 OTTHUMG00000168886 uc010tmb.2 NM_001005465 CCDS32046 Q8NGC4 8188290 "MGI:3031346|MGI:3031347" RGD:1334263 OR10G3 HGNC:8171 "ENST00000641040.1|NM_001005465.2" +HGNC:14809 OR10G4 olfactory receptor family 10 subfamily G member 4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 olfactory receptor, family 10, subfamily G, member 4 Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2016-10-05 390264 ENSG00000254737 OTTHUMG00000165966 uc010sac.2 AB065757 NM_001004462 CCDS31702 Q8NGN3 "MGI:3030812|MGI:3030813|MGI:3030814" RGD:1333391 OR10G4 HGNC:14809 "ENST00000641722.1|NM_001004462.2" +HGNC:14811 OR10G5P olfactory receptor family 10 subfamily G member 5 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 10, subfamily G, member 5 pseudogene Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2016-10-05 79515 ENSG00000226461 OTTHUMG00000165965 NG_002261 PGOHUM00000257924 OR10G5P HGNC:14811 +HGNC:14836 OR10G6 olfactory receptor family 10 subfamily G member 6 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 OR10G6Q OR10G6P "olfactory receptor, family 10, subfamily G, member 6 pseudogene|olfactory receptor, family 10, subfamily G, member 6" Olfactory receptors, family 10 157 2001-02-28 2004-03-05 2015-12-09 2021-10-06 79490 ENSG00000198674 OTTHUMG00000165964 uc058iqj.1 AB065508 NM_001355219 CCDS86256 Q8NH81 MGI:3030815 PGOHUM00000257865 OR10G6 HGNC:14836 "ENST00000307002.3|NM_001355219.1" +HGNC:14842 OR10G7 olfactory receptor family 10 subfamily G member 7 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 olfactory receptor, family 10, subfamily G, member 7 Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2016-10-05 390265 ENSG00000182634 OTTHUMG00000165969 uc001pzq.2 AB065754 NM_001004463 CCDS31705 Q8NGN6 MGI:3030812 OR10G7 HGNC:14842 "ENST00000641585.1|NM_001004463.2" +HGNC:14845 OR10G8 olfactory receptor family 10 subfamily G member 8 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 olfactory receptor, family 10, subfamily G, member 8 Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2016-10-05 219869 ENSG00000234560 OTTHUMG00000165968 uc001pzp.2 AB065755 NM_001004464 CCDS31704 Q8NGN5 "MGI:3030812|MGI:3030813" OR10G8 HGNC:14845 "ENST00000641224.2|NM_001004464.2" +HGNC:15129 OR10G9 olfactory receptor family 10 subfamily G member 9 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 OR10G10P olfactory receptor, family 10, subfamily G, member 9 Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2016-10-05 219870 ENSG00000236981 OTTHUMG00000165967 uc010sad.2 AB065756 NM_001001953 CCDS31703 Q8NGN4 "MGI:3030813|MGI:3030814" RGD:1333039 OR10G9 HGNC:15129 "ENST00000375024.1|NM_001001953.1" +HGNC:8172 OR10H1 olfactory receptor family 10 subfamily H member 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 olfactory receptor, family 10, subfamily H, member 1 Olfactory receptors, family 10 157 1999-12-01 2015-12-09 2020-04-01 26539 ENSG00000186723 OTTHUMG00000182285 uc002nbq.3 AC004510 NM_013940 CCDS12335 Q9Y4A9 "MGI:1333751|MGI:3030073" RGD:1333565 OR10H1 HGNC:8172 "ENST00000641419.1|NM_013940.4" +HGNC:8173 OR10H2 olfactory receptor family 10 subfamily H member 2 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 olfactory receptor, family 10, subfamily H, member 2 Olfactory receptors, family 10 157 1999-12-01 2015-12-09 2020-04-01 26538 ENSG00000171942 OTTHUMG00000182389 uc002nbm.3 AC004597 NM_013939 CCDS12333 O60403 MGI:3782645 RGD:1333631 OR10H2 HGNC:8173 "ENST00000305899.5|NM_013939.2" +HGNC:8174 OR10H3 olfactory receptor family 10 subfamily H member 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 olfactory receptor, family 10, subfamily H, member 3 Olfactory receptors, family 10 157 1999-12-01 2015-12-09 2020-04-01 26532 ENSG00000171936 OTTHUMG00000182390 uc010xoq.2 NM_013938 CCDS12334 O60404 MGI:1335096 OR10H3 HGNC:8174 "ENST00000641646.1|NM_013938.2" +HGNC:15388 OR10H4 olfactory receptor family 10 subfamily H member 4 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 olfactory receptor, family 10, subfamily H, member 4 Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 126541 ENSG00000176231 OTTHUMG00000182268 uc010xov.2 AC011517 NM_001004465 CCDS32941 Q8NGA5 MGI:1335096 RGD:6502391 OR10H4 HGNC:15388 "ENST00000322107.1|NM_001004465.1" +HGNC:15389 OR10H5 olfactory receptor family 10 subfamily H member 5 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 olfactory receptor, family 10, subfamily H, member 5 Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 284433 ENSG00000172519 OTTHUMG00000182284 uc010xos.3 AC011537 NM_001004466 CCDS32940 Q8NGA6 MGI:3782645 OR10H5 HGNC:15389 "ENST00000642092.2|NM_001004466.2" +HGNC:8175 OR10J1 olfactory receptor family 10 subfamily J member 1 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "HGMP07J|HSHGMP07J" olfactory receptor, family 10, subfamily J, member 1 Olfactory receptors, family 10 157 1999-11-29 2015-12-09 2015-12-09 26476 ENSG00000196184 OTTHUMG00000022737 uc010piv.3 X64995 NM_012351 CCDS86023 P30954 1370859 MGI:3030252 RGD:1595361 OR10J1 HGNC:8175 "ENST00000423932.6|NM_012351.3" +HGNC:14991 OR10J2P olfactory receptor family 10 subfamily J member 2 pseudogene pseudogene pseudogene Approved 1q23.2 01q23.2 olfactory receptor, family 10, subfamily J, member 2 pseudogene Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 391117 ENSG00000248642 OTTHUMG00000037175 NG_004364 PGOHUM00000259502 OR10J2P HGNC:14991 +HGNC:14992 OR10J3 olfactory receptor family 10 subfamily J member 3 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 OR10J3P olfactory receptor, family 10, subfamily J, member 3 Olfactory receptors, family 10 157 2001-03-28 2004-03-10 2015-12-09 2015-12-09 441911 ENSG00000196266 OTTHUMG00000037233 uc010piu.2 NR_172557 CCDS30909 Q5JRS4 "MGI:3030052|MGI:3031238" RGD:1333672 OR10J3 HGNC:14992 +HGNC:15408 OR10J4 olfactory receptor family 10 subfamily J member 4 (gene/pseudogene) protein-coding gene gene with protein product Approved 1q23.2 01q23.2 OST717 OR10J4P "olfactory receptor, family 10, subfamily J, member 4 pseudogene|olfactory receptor, family 10, subfamily J, member 4 (gene/pseudogene)" Olfactory receptors, family 10 157 2001-03-28 2008-06-11 2015-12-09 2015-12-09 391121 ENSG00000249730 OTTHUMG00000022740 uc057mgz.1 NM_001348286 P0C629 OR10J4P HGNC:15408 +HGNC:14993 OR10J5 olfactory receptor family 10 subfamily J member 5 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 olfactory receptor, family 10, subfamily J, member 5 Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 127385 ENSG00000184155 OTTHUMG00000022738 uc010piw.2 NM_001004469 CCDS30910 Q8NHC4 MGI:106648 RGD:1333702 619546 OR10J5 HGNC:14993 "ENST00000334857.3|NM_001004469.1" +HGNC:14994 OR10J6P olfactory receptor family 10 subfamily J member 6 pseudogene pseudogene pseudogene Approved 1q23.2 01q23.2 OR10J6 olfactory receptor, family 10, subfamily J, member 6 pseudogene Olfactory receptors, family 10 157 2001-03-28 2004-03-10 2015-12-09 2015-12-09 401973 ENSG00000158731 OTTHUMG00000035346 NG_004393 Q8NGY7 PGOHUM00000245036 OR10J6P HGNC:14994 +HGNC:19637 OR10J7P olfactory receptor family 10 subfamily J member 7 pseudogene pseudogene pseudogene Approved 1q23.2 01q23.2 olfactory receptor, family 10, subfamily J, member 7 pseudogene Olfactory receptors, family 10 157 2002-11-04 2015-12-09 2016-10-05 391119 ENSG00000248442 OTTHUMG00000037231 NG_004365 OR10J7P HGNC:19637 +HGNC:19638 OR10J8P olfactory receptor family 10 subfamily J member 8 pseudogene pseudogene pseudogene Approved 1q23.2 01q23.2 olfactory receptor, family 10, subfamily J, member 8 pseudogene Olfactory receptors, family 10 157 2002-11-04 2015-12-09 2016-10-05 343409 ENSG00000251686 OTTHUMG00000037229 NG_004308 OR10J8P HGNC:19638 +HGNC:19639 OR10J9P olfactory receptor family 10 subfamily J member 9 pseudogene pseudogene pseudogene Approved 1q23.2 01q23.2 olfactory receptor, family 10, subfamily J, member 9 pseudogene Olfactory receptors, family 10 157 2002-11-04 2015-12-09 2016-10-05 391120 ENSG00000249197 OTTHUMG00000037232 NG_004366 PGOHUM00000244304 OR10J9P HGNC:19639 +HGNC:14693 OR10K1 olfactory receptor family 10 subfamily K member 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 olfactory receptor, family 10, subfamily K, member 1 Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 391109 ENSG00000173285 OTTHUMG00000017517 uc010pij.2 AP002532 NM_001004473 CCDS30897 Q8NGX5 MGI:3030204 OR10K1 HGNC:14693 "ENST00000641535.1|NM_001004473.2" +HGNC:14826 OR10K2 olfactory receptor family 10 subfamily K member 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 olfactory receptor, family 10, subfamily K, member 2 Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 391107 ENSG00000180708 OTTHUMG00000019638 uc010pii.2 AB065642 NM_001004476 CCDS30896 Q6IF99 MGI:3030204 RGD:1333116 OR10K2 HGNC:14826 "ENST00000641042.1|NM_001004476.2" +HGNC:14689 OR10N1P olfactory receptor family 10 subfamily N member 1 pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 olfactory receptor, family 10, subfamily N, member 1 pseudogene Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 390267 ENSG00000213181 OTTHUMG00000154290 NG_004339 PGOHUM00000257867 OR10N1P HGNC:14689 +HGNC:15378 OR10P1 olfactory receptor family 10 subfamily P member 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 OST701 "OR10P1P|OR10P2P|OR10P3P" olfactory receptor, family 10, subfamily P, member 1 Olfactory receptors, family 10 157 2001-03-28 2004-03-10 2015-12-09 2016-11-09 121130 ENSG00000175398 OTTHUMG00000169961 uc010spq.3 BK004259 NM_206899 CCDS31828 Q8NGE3 MGI:3030630 RGD:1332909 OR10P1 HGNC:15378 "ENST00000309675.3|NM_206899.1" +HGNC:15134 OR10Q1 olfactory receptor family 10 subfamily Q member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 10, subfamily Q, member 1 Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 219960 ENSG00000180475 OTTHUMG00000167542 uc010rkd.2 AB065735 NM_001004471 CCDS31547 Q8NGQ4 "MGI:3031325|MGI:3031328" RGD:1333050 OR10Q1 HGNC:15134 "ENST00000316770.2|NM_001004471.2" +HGNC:15135 OR10Q2P olfactory receptor family 10 subfamily Q member 2 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 10, subfamily Q, member 2 pseudogene Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2017-10-30 81345 ENSG00000272900 OTTHUMG00000186073 NG_004249 PGOHUM00000290528 OR10Q2P HGNC:15135 +HGNC:14813 OR10R1P olfactory receptor family 10 subfamily R member 1 pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 olfactory receptor, family 10, subfamily R, member 1 pseudogene Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 79513 ENSG00000227445 OTTHUMG00000019628 NG_002259 PGOHUM00000245027 OR10R1P HGNC:14813 +HGNC:14820 OR10R2 olfactory receptor family 10 subfamily R member 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 OR10R2Q olfactory receptor, family 10, subfamily R, member 2 Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 343406 ENSG00000198965 OTTHUMG00000019632 uc010pik.2 AB065640 NM_001004472 CCDS30898 Q8NGX6 RGD:1333182 OR10R2 HGNC:14820 +HGNC:14829 OR10R3P olfactory receptor family 10 subfamily R member 3 pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 olfactory receptor, family 10, subfamily R, member 3 pseudogene Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 391110 ENSG00000198703 OTTHUMG00000019630 NG_004362 PGOHUM00000245026 OR10R3P HGNC:14829 +HGNC:14807 OR10S1 olfactory receptor family 10 subfamily S member 1 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 olfactory receptor, family 10, subfamily S, member 1 Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 219873 ENSG00000196248 OTTHUMG00000165963 uc001pzm.2 BK004509 NM_001004474 CCDS31701 Q8NGN2 MGI:3030816 RGD:1333299 OR10S1 HGNC:14807 +HGNC:14812 OR10T1P olfactory receptor family 10 subfamily T member 1 pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 olfactory receptor, family 10, subfamily T, member 1 pseudogene Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 79514 ENSG00000203758 OTTHUMG00000019631 NG_002260 PGOHUM00000244296 OR10T1P HGNC:14812 +HGNC:14816 OR10T2 olfactory receptor family 10 subfamily T member 2 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 olfactory receptor, family 10, subfamily T, member 2 Olfactory receptors, family 10 157 2001-02-28 2015-12-09 2015-12-09 128360 ENSG00000186306 OTTHUMG00000017521 uc010pih.2 AB065643 NM_001004475 CCDS30895 Q8NGX3 OR10T2 HGNC:14816 "ENST00000334438.1|NM_001004475.1" +HGNC:15332 OR10U1P olfactory receptor family 10 subfamily U member 1 pseudogene pseudogene pseudogene Approved 12q13.2 12q13.2 olfactory receptor, family 10, subfamily U, member 1 pseudogene Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 390318 ENSG00000227423 OTTHUMG00000154304 NG_004344 PGOHUM00000239467 OR10U1P HGNC:15332 +HGNC:15136 OR10V1 olfactory receptor family 10 subfamily V member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 olfactory receptor, family 10, subfamily V, member 1 Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 390201 ENSG00000172289 OTTHUMG00000167406 uc001nof.2 AB065807 NM_001005324 CCDS31565 Q8NGI7 MGI:3031254 RGD:1333276 OR10V1 HGNC:15136 "ENST00000307552.3|NM_001005324.1" +HGNC:15137 OR10V2P olfactory receptor family 10 subfamily V member 2 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 10, subfamily V, member 2 pseudogene Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 81343 ENSG00000255538 OTTHUMG00000167352 AW847973 NR_045005 PGOHUM00000242753 OR10V2P HGNC:15137 +HGNC:15138 OR10V3P olfactory receptor family 10 subfamily V member 3 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 10, subfamily V, member 3 pseudogene Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 81342 ENSG00000254743 OTTHUMG00000167351 NG_004247 OR10V3P HGNC:15138 +HGNC:31237 OR10V7P olfactory receptor family 10 subfamily V member 7 pseudogene pseudogene pseudogene Approved 14q21.2 14q21.2 olfactory receptor, family 10, subfamily V, member 7 pseudogene Olfactory receptors, family 10 157 2004-02-26 2015-12-09 2015-12-09 403225 NG_005817 HGNC:31237 +HGNC:15139 OR10W1 olfactory receptor family 10 subfamily W member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OR10W1P "olfactory receptor, family 10, subfamily W, member 1 pseudogene|olfactory receptor, family 10, subfamily W, member 1" Olfactory receptors, family 10 157 2001-03-28 2004-03-05 2015-12-09 2015-12-09 81341 ENSG00000172772 OTTHUMG00000167462 uc001nmq.1 AB065850 NM_207374 CCDS7968 Q8NGF6 MGI:3031324 RGD:1333289 OR10W1 HGNC:15139 "ENST00000395079.2|NM_207374.3" +HGNC:14995 OR10X1 olfactory receptor family 10 subfamily X member 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 OR10X1P "olfactory receptor, family 10, subfamily X, member 1|olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)|olfactory receptor family 10 subfamily X member 1 (gene/pseudogene)" Olfactory receptors, family 10 157 2001-03-28 2004-03-10 2020-05-01 2020-05-01 128367 ENSG00000279111 OTTHUMG00000019635 uc010pin.2 BK004194 NM_001004477 Q8NGY0 MGI:3030251 RGD:1333184 OR10X1 HGNC:14995 "ENST00000623167.1|NM_001004477.1" +HGNC:15140 OR10Y1P olfactory receptor family 10 subfamily Y member 1 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 olfactory receptor, family 10, subfamily Y, member 1 pseudogene Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 81340 ENSG00000254403 OTTHUMG00000167350 AC021809 NG_004245 PGOHUM00000242752 OR10Y1P HGNC:15140 +HGNC:14996 OR10Z1 olfactory receptor family 10 subfamily Z member 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 olfactory receptor, family 10, subfamily Z, member 1 Olfactory receptors, family 10 157 2001-03-28 2015-12-09 2015-12-09 128368 ENSG00000198967 OTTHUMG00000019637 uc010pio.2 AB065635 NM_001004478 CCDS30901 Q8NGY1 MGI:3030253 RGD:1333906 OR10Z1 HGNC:14996 "ENST00000641002.1|NM_001004478.2" +HGNC:8176 OR11A1 olfactory receptor family 11 subfamily A member 1 protein-coding gene gene with protein product Approved 6p22.2-p21.31 06p22.2-p21.31 hs6M1-18 OR11A2 "olfactory receptor, family 11, subfamily A, member 2|olfactory receptor, family 11, subfamily A, member 1" Olfactory receptors, family 11 159 1999-12-01 2015-12-09 2015-12-09 26531 ENSG00000204694 OTTHUMG00000031225 uc010jrh.2 NM_001394828 CCDS34363 Q9GZK7 MGI:2177479 RGD:1333000 OR11A1 HGNC:8176 "ENST00000377149.5|NM_001394828.1" +HGNC:15345 OR11G1P olfactory receptor family 11 subfamily G member 1 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 11, subfamily G, member 1 pseudogene Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 390438 ENSG00000258468 OTTHUMG00000170848 NG_004352 PGOHUM00000248040 OR11G1P HGNC:15345 +HGNC:15346 OR11G2 olfactory receptor family 11 subfamily G member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 11, subfamily G, member 2 Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 390439 ENSG00000196832 OTTHUMG00000167700 uc010tlb.3 NM_001005503 CCDS32032 Q8NGC1 MGI:3030578 RGD:1333151 OR11G2 HGNC:15346 "ENST00000641879.2|NM_001386033.1" +HGNC:15404 OR11H1 olfactory receptor family 11 subfamily H member 1 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 OR22-1 olfactory receptor, family 11, subfamily H, member 1 Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 81061 ENSG00000130538 OTTHUMG00000030069 uc011agd.3 "AP000535|AF399611" NM_001005239 CCDS74807 Q8NG94 12213199 OR11H1 HGNC:15404 "ENST00000643195.1|NM_001005239.2" +HGNC:14716 OR11H2 olfactory receptor family 11 subfamily H member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "OR11H2P|OR11H8P|C14orf15" "olfactory receptor, family 11, subfamily H, member 8 pseudogene|olfactory receptor, family 11, subfamily H, member 2" Olfactory receptors, family 11 159 2001-02-28 2004-03-10 2015-12-09 2016-09-27 79334 ENSG00000258453 OTTHUMG00000170597 uc058yqs.1 "AB065607|BK004489" NM_001197287 CCDS76655 Q8NH07 RGD:9076871 OR11H2 HGNC:14716 "ENST00000556246.3|NM_001197287.2" +HGNC:15367 OR11H3P olfactory receptor family 11 subfamily H member 3 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 olfactory receptor, family 11, subfamily H, member 3 pseudogene Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 81113 ENSG00000258721 OTTHUMG00000171736 NG_004166 PGOHUM00000246645 OR11H3P HGNC:15367 +HGNC:15347 OR11H4 olfactory receptor family 11 subfamily H member 4 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 11, subfamily H, member 4 Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 390442 ENSG00000176198 OTTHUMG00000170852 uc010tld.3 NM_001004479 CCDS32034 Q8NGC9 "MGI:3030581|MGI:3030583" RGD:1333574 OR11H4 HGNC:15347 "ENST00000641082.1|NM_001004479.2" +HGNC:15348 OR11H5P olfactory receptor family 11 subfamily H member 5 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 11, subfamily H, member 5 pseudogene Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 390440 ENSG00000258625 OTTHUMG00000170849 NG_004353 PGOHUM00000248041 OR11H5P HGNC:15348 +HGNC:15349 OR11H6 olfactory receptor family 11 subfamily H member 6 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 11, subfamily H, member 6 Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 122748 ENSG00000176219 OTTHUMG00000170850 uc010tlc.3 NM_001004480 CCDS32033 Q8NGC7 MGI:3030579 RGD:1334349 OR11H6 HGNC:15349 "ENST00000315519.3|NM_001004480.1" +HGNC:15350 OR11H7 olfactory receptor family 11 subfamily H member 7 (gene/pseudogene) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 OR11H7P "olfactory receptor, family 11, subfamily H, member 7 pseudogene|olfactory receptor, family 11, subfamily H, member 7 (gene/pseudogene)" Olfactory receptors, family 11 159 2001-03-28 2008-06-11 2015-12-09 2015-12-09 390441 ENSG00000258806 OTTHUMG00000170851 uc058yra.1 NM_001348273 CCDS86368 Q8NGC8 MGI:3030580 RGD:1334259 OR11H7P HGNC:15350 +HGNC:30738 OR11H12 olfactory receptor family 11 subfamily H member 12 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 olfactory receptor, family 11, subfamily H, member 12 Olfactory receptors, family 11 159 2005-03-07 2015-12-09 2015-12-09 440153 ENSG00000257115 OTTHUMG00000170298 uc010tkp.3 NM_001013354 CCDS32017 B2RN74 OR11H12 HGNC:30738 "ENST00000550708.2|NM_001013354.1" +HGNC:29997 OR11H13P olfactory receptor family 11 subfamily H member 13 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 11, subfamily H, member 13 pseudogene Olfactory receptors, family 11 159 2005-03-07 2015-12-09 2015-12-09 440159 ENSG00000196143 OTTHUMG00000170504 NG_004865 PGOHUM00000247709 OR11H13P HGNC:29997 +HGNC:14997 OR11I1P olfactory receptor family 11 subfamily I member 1 pseudogene pseudogene pseudogene Approved 1p13.3 01p13.3 OR11I2P olfactory receptor, family 11, subfamily I, member 1 pseudogene Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 81479 ENSG00000232791 OTTHUMG00000034579 AC025375 NG_003221 PGOHUM00000244843 OR11I1P HGNC:14997 +HGNC:15369 OR11J1P olfactory receptor family 11 subfamily J member 1 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 olfactory receptor, family 11, subfamily J, member 1 pseudogene Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 81111 NG_004165 PGOHUM00000292814 OR11J1P HGNC:15369 +HGNC:15370 OR11J2P olfactory receptor family 11 subfamily J member 2 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 olfactory receptor, family 11, subfamily J, member 2 pseudogene Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 81110 ENSG00000258855 OTTHUMG00000171710 AC021585 NG_004164 PGOHUM00000246972 OR11J2P HGNC:15370 +HGNC:31238 OR11J5P olfactory receptor family 11 subfamily J member 5 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 olfactory receptor, family 11, subfamily J, member 5 pseudogene Olfactory receptors, family 11 159 2004-02-26 2015-12-09 2015-12-09 403226 ENSG00000258494 OTTHUMG00000171711 NG_004403 PGOHUM00000246631 OR11J5P HGNC:31238 +HGNC:38588 OR11J6P olfactory receptor family 11 subfamily J member 6 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 olfactory receptor, family 11, subfamily J, member 6 pseudogene Olfactory receptors, family 11 159 2010-06-24 2015-12-09 2018-04-27 100288148 ENSG00000285405 NG_022100 PGOHUM00000246643 OR11J6P HGNC:38588 +HGNC:38589 OR11J7P olfactory receptor family 11 subfamily J member 7 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 olfactory receptor, family 11, subfamily J, member 7 pseudogene Olfactory receptors, family 11 159 2010-06-24 2015-12-09 2018-04-27 100288112 ENSG00000283524 OTTHUMG00000191818 NG_022120 PGOHUM00000246983 OR11J7P HGNC:38589 +HGNC:55117 OR11K1BP olfactory receptor family 11 subfamily K member 1B pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 Olfactory receptors, family 11 159 2020-07-21 2020-07-21 118568805 ENSG00000259324 32126975 PGOHUM00000292816 +HGNC:15371 OR11K1P olfactory receptor family 11 subfamily K member 1 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 olfactory receptor, family 11, subfamily K, member 1 pseudogene Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2020-05-12 81109 ENSG00000283680 OTTHUMG00000171933 NG_004163 PGOHUM00000292827 OR11K1P HGNC:15371 +HGNC:19635 OR11K2P olfactory receptor family 11 subfamily K member 2 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 11, subfamily K, member 2 pseudogene Olfactory receptors, family 11 159 2002-11-04 2015-12-09 2017-10-30 401742 ENSG00000258438 OTTHUMG00000170598 NG_004392 PGOHUM00000292280 OR11K2P HGNC:19635 +HGNC:14998 OR11L1 olfactory receptor family 11 subfamily L member 1 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 11, subfamily L, member 1 Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 391189 ENSG00000197591 OTTHUMG00000040193 uc001idn.1 AB065646 NM_001001959 CCDS31098 Q8NGX0 MGI:3030157 RGD:1334164 OR11L1 HGNC:14998 "ENST00000355784.3|NM_001001959.1" +HGNC:15333 OR11M1P olfactory receptor family 11 subfamily M member 1 pseudogene pseudogene pseudogene Approved 12q13.11 12q13.11 olfactory receptor, family 11, subfamily M, member 1 pseudogene Olfactory receptors, family 11 159 2001-03-28 2015-12-09 2015-12-09 121270 ENSG00000224709 OTTHUMG00000154301 AC009775 NG_004284 PGOHUM00000257948 OR11M1P HGNC:15333 +HGNC:19582 OR11N1P olfactory receptor family 11 subfamily N member 1 pseudogene pseudogene pseudogene Approved Xq26.2 Xq26.2 olfactory receptor, family 11, subfamily N, member 1 pseudogene Olfactory receptors, family 11 159 2002-11-04 2015-12-09 2017-10-30 392540 ENSG00000185903 OTTHUMG00000022405 NG_004381 PGOHUM00000304848 OR11N1P HGNC:19582 +HGNC:19636 OR11P1P olfactory receptor family 11 subfamily P member 1 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 olfactory receptor, family 11, subfamily P, member 1 pseudogene Olfactory receptors, family 11 159 2002-11-04 2015-12-09 2018-04-30 282795 ENSG00000284742 NG_004302 OR11P1P HGNC:19636 +HGNC:31239 OR11Q1P olfactory receptor family 11 subfamily Q member 1 pseudogene pseudogene pseudogene Approved Xq26.1 Xq26.1 olfactory receptor, family 11, subfamily Q, member 1 pseudogene Olfactory receptors, family 11 159 2004-02-26 2015-12-09 2015-12-09 403227 ENSG00000237650 OTTHUMG00000022404 NG_004404 PGOHUM00000242011 OR11Q1P HGNC:31239 +HGNC:8177 OR12D1 olfactory receptor family 12 subfamily D member 1 (gene/pseudogene) protein-coding gene gene with protein product Approved 6p22.1 06p22.1 hs6M1-19 OR12D1P "olfactory receptor, family 12, subfamily D, member 1|olfactory receptor, family 12, subfamily D, member 1 pseudogene|olfactory receptor, family 12, subfamily D, member 1 (gene/pseudogene)" Olfactory receptors, family 12 160 1999-12-01 2013-10-02 2015-12-09 2015-12-09 26530 ENSG00000251608 OTTHUMG00000031141 NM_001348208 P0DN82 "MGI:2177484|MGI:2177485|MGI:2177486" RGD:1334232 OR12D1P HGNC:8177 +HGNC:8178 OR12D2 olfactory receptor family 12 subfamily D member 2 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 hs6M1-20 "olfactory receptor, family 12, subfamily D, member 2|olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)|olfactory receptor family 12 subfamily D member 2 (gene/pseudogene)" Olfactory receptors, family 12 160 1999-12-01 2020-05-01 2020-05-01 26529 ENSG00000280236 OTTHUMG00000031049 uc063mmw.1 NM_013936 P58182 MGI:2177485 RGD:1333138 OR12D2 HGNC:8178 "ENST00000642051.1|NM_013936.4" +HGNC:13963 OR12D3 olfactory receptor family 12 subfamily D member 3 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 hs6M1-27 olfactory receptor, family 12, subfamily D, member 3 Olfactory receptors, family 12 160 2001-04-03 2015-12-09 2015-12-09 81797 ENSG00000112462 OTTHUMG00000031051 uc003nme.3 NM_030959 CCDS4658 Q9UGF7 MGI:2177492 RGD:1303153 OR12D3 HGNC:13963 "ENST00000396806.3|NM_030959.3" +HGNC:14772 OR13A1 olfactory receptor family 13 subfamily A member 1 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 olfactory receptor, family 13, subfamily A, member 1 Olfactory receptors, family 13 162 2001-02-28 2015-12-09 2015-12-09 79290 ENSG00000256574 OTTHUMG00000018080 uc001jcc.1 AB065728 NM_001004297 CCDS31188 Q8NGR1 MGI:3030045 RGD:1333902 OR13A1 HGNC:14772 "ENST00000553795.6|NM_001004297.3" +HGNC:14699 OR13C1P olfactory receptor family 13 subfamily C member 1 pseudogene pseudogene pseudogene Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily C, member 1 pseudogene Olfactory receptors, family 13 162 2001-02-28 2015-12-09 2015-12-09 392377 ENSG00000235248 OTTHUMG00000185902 NG_002246 PGOHUM00000304020 OR13C1P HGNC:14699 +HGNC:14701 OR13C2 olfactory receptor family 13 subfamily C member 2 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily C, member 2 Olfactory receptors, family 13 162 2001-02-28 2015-12-09 2015-12-09 392376 ENSG00000276119 OTTHUMG00000020415 uc011lvq.2 NM_001004481 CCDS35092 Q8NGS9 OR13C2 HGNC:14701 "ENST00000542196.2|NM_001004481.1" +HGNC:14704 OR13C3 olfactory receptor family 13 subfamily C member 3 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily C, member 3 Olfactory receptors, family 13 162 2001-02-28 2015-12-09 2015-12-09 138803 ENSG00000204246 OTTHUMG00000020406 uc004bcb.2 NM_001001961 CCDS35089 Q8NGS6 MGI:3030107 RGD:1333321 OR13C3 HGNC:14704 +HGNC:14722 OR13C4 olfactory receptor family 13 subfamily C member 4 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily C, member 4 Olfactory receptors, family 13 162 2001-02-28 2015-12-09 2015-12-09 138804 ENSG00000148136 OTTHUMG00000020407 uc011lvn.2 NM_001001919 CCDS35088 Q8NGS5 RGD:1333384 OR13C4 HGNC:14722 "ENST00000277216.3|NM_001001919.1" +HGNC:15100 OR13C5 olfactory receptor family 13 subfamily C member 5 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily C, member 5 Olfactory receptors, family 13 162 2001-03-28 2015-12-09 2015-12-09 138799 ENSG00000277556 OTTHUMG00000020408 uc011lvp.2 NM_001004482 CCDS35091 Q8NGS8 OR13C5 HGNC:15100 "ENST00000374779.3|NM_001004482.1" +HGNC:15101 OR13C6P olfactory receptor family 13 subfamily C member 6 pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 olfactory receptor, family 13, subfamily C, member 6 pseudogene Olfactory receptors, family 13 162 2001-03-28 2015-12-09 2015-12-09 392311 ENSG00000179443 OTTHUMG00000019892 NG_004378 Q8NH95 PGOHUM00000236028 OR13C6P HGNC:15101 +HGNC:15102 OR13C7 olfactory receptor family 13 subfamily C member 7 (gene/pseudogene) protein-coding gene gene with protein product Approved 9p13.3 09p13.3 OST706 OR13C7P "olfactory receptor, family 13, subfamily C, member 7 pseudogene|olfactory receptor, family 13, subfamily C, member 7 (gene/pseudogene)" Olfactory receptors, family 13 162 2001-03-28 2014-10-02 2015-12-09 2015-12-09 81377 ENSG00000243641 OTTHUMG00000019893 NG_002408 P0DN81 "MGI:1352683|MGI:1352684" RGD:1332747 PGOHUM00000236029 OR13C7P HGNC:15102 +HGNC:15103 OR13C8 olfactory receptor family 13 subfamily C member 8 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily C, member 8 Olfactory receptors, family 13 162 2001-03-28 2015-12-09 2015-12-09 138802 ENSG00000186943 OTTHUMG00000020409 uc011lvo.2 NM_001004483 CCDS35090 Q8NGS7 MGI:3030106 RGD:1333398 OR13C8 HGNC:15103 "ENST00000335040.1|NM_001004483.1" +HGNC:15104 OR13C9 olfactory receptor family 13 subfamily C member 9 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily C, member 9 Olfactory receptors, family 13 162 2001-03-28 2015-12-09 2015-12-09 286362 ENSG00000136839 OTTHUMG00000020416 uc011lvr.2 NM_001001956 CCDS35093 Q8NGT0 RGD:1333551 OR13C9 HGNC:15104 "ENST00000259362.1|NM_001001956.1" +HGNC:14695 OR13D1 olfactory receptor family 13 subfamily D member 1 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily D, member 1 Olfactory receptors, family 13 162 2001-02-28 2015-12-09 2015-12-09 286365 ENSG00000179055 OTTHUMG00000020412 uc011lvs.2 NM_001004484 CCDS35094 Q8NGV5 MGI:3030104 RGD:1334138 OR13D1 HGNC:14695 "ENST00000641530.1|NM_001004484.2" +HGNC:15105 OR13D2P olfactory receptor family 13 subfamily D member 2 pseudogene pseudogene pseudogene Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily D, member 2 pseudogene Olfactory receptors, family 13 162 2001-03-28 2015-12-09 2015-12-09 392375 ENSG00000237443 OTTHUMG00000020405 NG_004380 PGOHUM00000236742 OR13D2P HGNC:15105 +HGNC:15106 OR13D3P olfactory receptor family 13 subfamily D member 3 pseudogene pseudogene pseudogene Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily D, member 3 pseudogene Olfactory receptors, family 13 162 2001-03-28 2015-12-09 2015-12-09 402374 ENSG00000188712 OTTHUMG00000020411 NG_004400 PGOHUM00000236744 OR13D3P HGNC:15106 +HGNC:15107 OR13E1P olfactory receptor family 13 subfamily E member 1 pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 OST741 OR13E2 olfactory receptor, family 13, subfamily E, member 1 pseudogene Olfactory receptors, family 13 162 2001-03-28 2015-12-09 2015-12-09 392308 ENSG00000236083 OTTHUMG00000019877 NG_004377 PGOHUM00000236024 OR13E1P HGNC:15107 +HGNC:14723 OR13F1 olfactory receptor family 13 subfamily F member 1 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 olfactory receptor, family 13, subfamily F, member 1 Olfactory receptors, family 13 162 2001-02-28 2015-12-09 2015-12-09 138805 ENSG00000186881 OTTHUMG00000020404 uc011lvm.2 NM_001004485 CCDS35087 Q8NGS4 MGI:3030109 RGD:1583730 OR13F1 HGNC:14723 "ENST00000334726.3|NM_001004485.1" +HGNC:14999 OR13G1 olfactory receptor family 13 subfamily G member 1 protein-coding gene gene with protein product Approved 1q44 01q44 olfactory receptor, family 13, subfamily G, member 1 Olfactory receptors, family 13 162 2001-03-28 2015-12-09 2015-12-09 441933 ENSG00000197437 OTTHUMG00000040212 uc001idi.1 AB065623 NM_001005487 CCDS31094 Q8NGZ3 MGI:3030143 RGD:1333584 611677 OR13G1 HGNC:14999 "ENST00000642119.1|NM_001005487.2" +HGNC:14755 OR13H1 olfactory receptor family 13 subfamily H member 1 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 olfactory receptor, family 13, subfamily H, member 1 Olfactory receptors, family 13 162 2001-02-28 2015-12-09 2015-12-09 347468 ENSG00000171054 OTTHUMG00000022411 uc011muw.2 NM_001004486 CCDS35396 Q8NG92 MGI:3031159 OR13H1 HGNC:14755 "ENST00000338616.6|NM_001004486.1" +HGNC:14732 OR13I1P olfactory receptor family 13 subfamily I member 1 pseudogene pseudogene pseudogene Approved 9q31.1 09q31.1 OR13I2P olfactory receptor, family 13, subfamily I, member 1 pseudogene Olfactory receptors, family 13 162 2001-02-28 2015-12-09 2015-12-09 79538 ENSG00000273423 OTTHUMG00000020410 NG_004626 PGOHUM00000304428 OR13I1P HGNC:14732 +HGNC:15108 OR13J1 olfactory receptor family 13 subfamily J member 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 olfactory receptor, family 13, subfamily J, member 1 Olfactory receptors, family 13 162 2001-03-28 2015-12-09 2015-12-09 392309 ENSG00000168828 OTTHUMG00000019879 uc011lph.3 NM_001004487 CCDS35011 Q8NGT2 MGI:1860080 RGD:1333724 OR13J1 HGNC:15108 "ENST00000377981.4|NM_001004487.1" +HGNC:14721 OR13K1P olfactory receptor family 13 subfamily K member 1 pseudogene pseudogene pseudogene Approved Xq26.2 Xq26.2 olfactory receptor, family 13, subfamily K, member 1 pseudogene Olfactory receptors, family 13 162 2001-02-28 2015-12-09 2015-12-09 402424 ENSG00000237225 OTTHUMG00000022412 NG_004632 PGOHUM00000242014 OR13K1P HGNC:14721 +HGNC:31240 OR13Z1P olfactory receptor family 13 subfamily Z member 1 pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 olfactory receptor, family 13, subfamily Z, member 1 pseudogene Olfactory receptors, family 13 162 2004-02-26 2015-12-09 2015-12-09 403228 ENSG00000226653 OTTHUMG00000154280 NG_004405 PGOHUM00000244965 OR13Z1P HGNC:31240 +HGNC:31241 OR13Z2P olfactory receptor family 13 subfamily Z member 2 pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 olfactory receptor, family 13, subfamily Z, member 2 pseudogene Olfactory receptors, family 13 162 2004-02-26 2015-12-09 2015-12-09 403229 ENSG00000272443 OTTHUMG00000185763 NG_004406 PGOHUM00000244966 OR13Z2P HGNC:31241 +HGNC:31242 OR13Z3P olfactory receptor family 13 subfamily Z member 3 pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 olfactory receptor, family 13, subfamily Z, member 3 pseudogene Olfactory receptors, family 13 162 2004-02-26 2015-12-09 2017-10-30 403230 ENSG00000272480 OTTHUMG00000185764 NG_005818 HGNC:31242 +HGNC:15024 OR14A2 olfactory receptor family 14 subfamily A member 2 protein-coding gene gene with protein product Approved 1q44 01q44 "OR5AX1P|OR5AX1" "olfactory receptor, family 5, subfamily AX, member 1 pseudogene|olfactory receptor, family 5, subfamily AX, member 1|olfactory receptor, family 14, subfamily A, member 2" Olfactory receptors, family 14 163 2001-03-28 2008-04-02 2015-12-09 2017-11-23 388761 ENSG00000241128 OTTHUMG00000040207 uc057rau.1 AB065620 NM_001355292 CCDS86063 Q96R54 "MGI:3030128|MGI:3030132|MGI:3030138|MGI:3030139|MGI:3030141" RGD:1333387 OR14A2 HGNC:15024 +HGNC:15022 OR14A16 olfactory receptor family 14 subfamily A member 16 protein-coding gene gene with protein product Approved 1q44 01q44 OR5AT1 "olfactory receptor, family 5, subfamily AT, member 1|olfactory receptor, family 14, subfamily A, member 16" Olfactory receptors, family 14 163 2001-03-28 2008-04-02 2015-12-09 2015-12-09 284532 ENSG00000196772 OTTHUMG00000040199 uc001idm.1 BK004366 NM_001001966 CCDS31097 Q8NHC5 RGD:1334058 OR14A16 HGNC:15022 "ENST00000641093.1|NM_001001966.2" +HGNC:15026 OR14C36 olfactory receptor family 14 subfamily C member 36 protein-coding gene gene with protein product Approved 1q44 01q44 OR5BF1 "olfactory receptor, family 5, subfamily BF, member 1|olfactory receptor, family 14, subfamily C, member 36" Olfactory receptors, family 14 163 2001-03-28 2008-04-02 2015-12-09 2015-12-09 127066 ENSG00000177174 OTTHUMG00000040463 uc010pzl.2 BK004466 NM_001001918 CCDS31112 Q8NHC7 "MGI:3030126|MGI:3030127|MGI:3030129|MGI:3030131|MGI:3030133|MGI:3030135|MGI:3030144" OR14C36 HGNC:15026 "ENST00000317861.1|NM_001001918.1" +HGNC:19575 OR14I1 olfactory receptor family 14 subfamily I member 1 protein-coding gene gene with protein product Approved 1q44 01q44 "OR5BU1P|OR5BU1" "olfactory receptor, family 5, subfamily BU, member 1|olfactory receptor, family 14, subfamily I, member 1" Olfactory receptors, family 14 163 2002-11-04 2008-04-02 2015-12-09 2015-12-09 401994 ENSG00000189181 OTTHUMG00000040378 uc001ieu.1 NM_001004734 CCDS31125 A6ND48 618516 OR14I1 HGNC:19575 +HGNC:13971 OR14J1 olfactory receptor family 14 subfamily J member 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 hs6M1-28 OR5U1 "olfactory receptor, family 5, subfamily U, member 1|olfactory receptor, family 14, subfamily J, member 1" Olfactory receptors, family 14 163 2001-03-28 2008-04-02 2015-12-09 2016-10-05 442191 ENSG00000204695 OTTHUMG00000031184 uc011hhm.2 NM_030946 CCDS34362 Q9UGF5 MGI:2177508 RGD:1333127 OR14J1 HGNC:13971 "ENST00000641895.1|NM_030946.2" +HGNC:15025 OR14K1 olfactory receptor family 14 subfamily K member 1 protein-coding gene gene with protein product Approved 1q44 01q44 OR5AY1 "olfactory receptor, family 5, subfamily AY, member 1|olfactory receptor, family 14, subfamily K, member 1" Olfactory receptors, family 14 163 2001-03-28 2008-04-02 2015-12-09 2017-11-30 343170 ENSG00000153230 OTTHUMG00000040211 uc057rav.1 BK004377 NM_001004732 CCDS86064 Q8NGZ2 OR14K1 HGNC:15025 "ENST00000283225.2|NM_001004732.2" +HGNC:15023 OR14L1P olfactory receptor family 14 subfamily L member 1 pseudogene pseudogene pseudogene Approved 1q44 01q44 "OR5AV1|OR5AV1P" "olfactory receptor, family 5, subfamily AV, member 1 pseudogene|olfactory receptor, family 14, subfamily L, member 1 pseudogene" Olfactory receptors, family 14 163 2001-03-28 2008-04-02 2015-12-09 2015-12-09 127617 ENSG00000198452 OTTHUMG00000040577 NG_004286 Q8NHC6 OR14L1P HGNC:15023 +HGNC:8316 OR51A1P olfactory receptor family 51 subfamily A member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily A, member 1 pseudogene Olfactory receptors, family 51 164 1999-12-01 2015-12-09 2015-12-09 26537 ENSG00000176752 OTTHUMG00000066604 NG_002199 PGOHUM00000242140 OR51A1P HGNC:8316 +HGNC:14764 OR51A2 olfactory receptor family 51 subfamily A member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily A, member 2 Olfactory receptors, family 51 164 2001-02-28 2015-12-09 2015-12-09 401667 ENSG00000205496 OTTHUMG00000066602 uc010qyt.2 AB065797 NM_001004748 CCDS31368 Q8NGJ7 RGD:1333720 OR51A2 HGNC:14764 "ENST00000380371.1|NM_001004748.1" +HGNC:14794 OR51A3P olfactory receptor family 51 subfamily A member 3 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily A, member 3 pseudogene Olfactory receptors, family 51 164 2001-02-28 2015-12-09 2015-12-09 79532 ENSG00000227023 OTTHUMG00000066613 NG_002268 PGOHUM00000242137 OR51A3P HGNC:14794 +HGNC:14795 OR51A4 olfactory receptor family 51 subfamily A member 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily A, member 4 Olfactory receptors, family 51 164 2001-02-28 2015-12-09 2015-12-09 401666 ENSG00000205497 OTTHUMG00000066614 uc010qys.2 AB065798 NM_001005329 CCDS31367 Q8NGJ6 OR51A4 HGNC:14795 "ENST00000641898.1|NM_001005329.2" +HGNC:14801 OR51A5P olfactory receptor family 51 subfamily A member 5 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily A, member 5 pseudogene Olfactory receptors, family 51 164 2001-02-28 2015-12-09 2015-12-09 79525 ENSG00000225003 OTTHUMG00000066599 NG_002263 PGOHUM00000242138 OR51A5P HGNC:14801 +HGNC:15187 OR51A6P olfactory receptor family 51 subfamily A member 6 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily A, member 6 pseudogene Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 390046 ENSG00000197023 OTTHUMG00000066505 NG_004325 PGOHUM00000250355 OR51A6P HGNC:15187 +HGNC:15188 OR51A7 olfactory receptor family 51 subfamily A member 7 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily A, member 7 Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 119687 ENSG00000176895 OTTHUMG00000066502 uc010qyq.2 AB065525 NM_001004749 CCDS31364 Q8NH64 MGI:3030410 RGD:1333806 OR51A7 HGNC:15188 "ENST00000641490.1|NM_001004749.2" +HGNC:15189 OR51A8P olfactory receptor family 51 subfamily A member 8 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily A, member 8 pseudogene Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 401662 ENSG00000197984 OTTHUMG00000066511 NG_004387 PGOHUM00000242568 OR51A8P HGNC:15189 +HGNC:15190 OR51A9P olfactory receptor family 51 subfamily A member 9 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily A, member 9 pseudogene Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 390039 ENSG00000180723 OTTHUMG00000154340 NG_004320 PGOHUM00000242132 OR51A9P HGNC:15190 +HGNC:15185 OR51A10P olfactory receptor family 51 subfamily A member 10 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 "OR51A11P|OR51A13" olfactory receptor, family 51, subfamily A, member 10 pseudogene Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 81295 ENSG00000230484 OTTHUMG00000066900 NG_004229 PGOHUM00000242147 OR51A10P HGNC:15185 +HGNC:31278 OR51AB1P olfactory receptor family 51 subfamily AB member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily AB, member 1 pseudogene Olfactory receptors, family 51 164 2004-02-26 2015-12-09 2016-11-09 403265 ENSG00000229093 OTTHUMG00000066677 NG_004424 PGOHUM00000290370 OR51AB1P HGNC:31278 +HGNC:14703 OR51B2 olfactory receptor family 51 subfamily B member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR51B1P "olfactory receptor, family 51, subfamily B, member 2 (gene/pseudogene)|olfactory receptor family 51 subfamily B member 2 (gene/pseudogene)" Olfactory receptors, family 51 164 2001-02-28 2020-05-01 2020-05-01 79345 ENSG00000279012 OTTHUMG00000066682 uc057yhk.1 AF399503 NM_033180 Q9Y5P1 MGI:1341900 RGD:1333394 OR51B2 HGNC:14703 "ENST00000624187.1|NM_033180.5" +HGNC:14706 OR51B3P olfactory receptor family 51 subfamily B member 3 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily B, member 3 pseudogene Olfactory receptors, family 51 164 2001-02-28 2015-12-09 2015-12-09 79342 ENSG00000223735 OTTHUMG00000066683 NG_004142 PGOHUM00000242144 OR51B3P HGNC:14706 +HGNC:14708 OR51B4 olfactory receptor family 51 subfamily B member 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily B, member 4 Olfactory receptors, family 51 164 2001-02-28 2015-12-09 2015-12-09 79339 ENSG00000183251 OTTHUMG00000066665 uc010qza.3 BC069094 NM_033179 CCDS7757 Q9Y5P0 MGI:1341906 RGD:1332980 OR51B4 HGNC:14708 "ENST00000380224.2|NM_033179.2" +HGNC:19599 OR51B5 olfactory receptor family 51 subfamily B member 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily B, member 5 Olfactory receptors, family 51 164 2002-11-04 2015-12-09 2018-11-13 282763 ENSG00000167355 OTTHUMG00000066676 uc057yhn.1 BK004430 NM_001005567 CCDS31378 Q9H339 RGD:1334425 OR51B5 HGNC:19599 +HGNC:19600 OR51B6 olfactory receptor family 51 subfamily B member 6 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily B, member 6 Olfactory receptors, family 51 164 2002-11-04 2015-12-09 2015-12-09 390058 ENSG00000176239 OTTHUMG00000066669 uc010qzb.2 NM_001004750 CCDS31379 Q9H340 "MGI:1341910|MGI:3030457" RGD:1333371 OR51B6 HGNC:19600 "ENST00000380219.1|NM_001004750.1" +HGNC:31279 OR51B8P olfactory receptor family 51 subfamily B member 8 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily B, member 8 pseudogene Olfactory receptors, family 51 164 2004-02-26 2015-12-09 2015-12-09 403266 ENSG00000236359 OTTHUMG00000066668 NG_004425 PGOHUM00000242145 OR51B8P HGNC:31279 +HGNC:15191 OR51C1P olfactory receptor family 51 subfamily C member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OST734 "OR51C3P|OR51C2P" olfactory receptor, family 51, subfamily C, member 1 pseudogene Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 401661 ENSG00000197674 OTTHUMG00000186285 NM_001396051 RGD:1333218 OR51C1P HGNC:15191 +HGNC:31280 OR51C4P olfactory receptor family 51 subfamily C member 4 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily C, member 4 pseudogene Olfactory receptors, family 51 164 2004-02-26 2015-12-09 2017-10-30 390041 ENSG00000272664 OTTHUMG00000186287 NG_004322 PGOHUM00000290794 OR51C4P HGNC:31280 +HGNC:15193 OR51D1 olfactory receptor family 51 subfamily D member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR51D1Q olfactory receptor, family 51, subfamily D, member 1 Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 390038 ENSG00000197428 OTTHUMG00000165724 uc010qyk.2 AB065855 NM_001004751 CCDS31357 Q8NGF3 MGI:3030391 RGD:1592737 OR51D1 HGNC:15193 "ENST00000641817.1|NM_001004751.3" +HGNC:15194 OR51E1 olfactory receptor family 51 subfamily E member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 GPR136 "OR51E1P|OR52A3P|GPR164" "olfactory receptor, family 51, subfamily E, member 1 pseudogene|olfactory receptor, family 51, subfamily E, member 1" Olfactory receptors, family 51 164 2001-03-28 2004-11-06 2015-12-09 2015-12-09 143503 ENSG00000180785 OTTHUMG00000157024 uc001lzi.5 AY775731 NM_152430 CCDS31358 Q8TCB6 MGI:3030392 RGD:1332833 611267 OR51E1 objectId:653 HGNC:15194 "ENST00000396952.6|NM_152430.4" +HGNC:15195 OR51E2 olfactory receptor family 51 subfamily E member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 PSGR olfactory receptor, family 51, subfamily E, member 2 Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2016-10-05 81285 ENSG00000167332 OTTHUMG00000133362 uc001lzk.3 AY033942 NM_030774 CCDS7751 Q9H255 11118034 MGI:2157548 RGD:628858 611268 OR51E2 HGNC:15195 "ENST00000396950.4|NM_030774.4" +HGNC:15196 OR51F1 olfactory receptor family 51 subfamily F member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR51F1P "olfactory receptor, family 51, subfamily F, member 1 (gene/pseudogene)|olfactory receptor family 51 subfamily F member 1 (gene/pseudogene)" Olfactory receptors, family 51 164 2001-03-28 2004-03-10 2020-05-01 2020-05-01 256892 ENSG00000280021 OTTHUMG00000066503 uc010qyl.2 BK004771 NM_001004752 A6NGY5 MGI:3030400 RGD:1334432 OR51F1 HGNC:15196 "ENST00000624103.2|NM_001004752.2" +HGNC:15197 OR51F2 olfactory receptor family 51 subfamily F member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily F, member 2 Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 119694 ENSG00000176925 OTTHUMG00000066508 uc010qyn.2 BK004281 NM_001004753 CCDS31361 Q8NH61 MGI:3030402 RGD:1332773 OR51F2 HGNC:15197 "ENST00000322110.8|NM_001004753.2" +HGNC:31281 OR51F3P olfactory receptor family 51 subfamily F member 3 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily F, member 3 pseudogene Olfactory receptors, family 51 164 2004-02-26 2015-12-09 2017-10-30 390043 ENSG00000272559 OTTHUMG00000186288 NG_004323 PGOHUM00000290360 OR51F3P HGNC:31281 +HGNC:31282 OR51F4P olfactory receptor family 51 subfamily F member 4 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily F, member 4 pseudogene Olfactory receptors, family 51 164 2004-02-26 2015-12-09 2017-10-30 390044 ENSG00000273051 OTTHUMG00000186289 NG_004324 PGOHUM00000290361 OR51F4P HGNC:31282 +HGNC:31283 OR51F5P olfactory receptor family 51 subfamily F member 5 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily F, member 5 pseudogene Olfactory receptors, family 51 164 2004-02-26 2015-12-09 2018-04-30 390040 ENSG00000272634 OTTHUMG00000186286 NG_004321 PGOHUM00000264426 OR51F5P HGNC:31283 +HGNC:14738 OR51G1 olfactory receptor family 51 subfamily G member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR51G3P "olfactory receptor, family 51, subfamily G, member 1 (gene/pseudogene)|olfactory receptor family 51 subfamily G member 1 (gene/pseudogene)" Olfactory receptors, family 51 164 2001-02-28 2020-05-01 2020-05-01 79324 ENSG00000278870 OTTHUMG00000066532 uc010qyr.2 AB065793 NM_001005237 Q8NGK1 MGI:3030412 RGD:1334292 OR51G1 HGNC:14738 "ENST00000623849.1|NM_001005237.1" +HGNC:15198 OR51G2 olfactory receptor family 51 subfamily G member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily G, member 2 Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 81282 ENSG00000176893 OTTHUMG00000066501 uc001lzr.1 AB065794 NM_001005238 CCDS31365 Q8NGK0 MGI:3030411 RGD:1332641 OR51G2 HGNC:15198 "ENST00000641926.1|NM_001005238.2" +HGNC:14833 OR51H1 olfactory receptor family 51 subfamily H member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR51H1P "olfactory receptor, family 51, subfamily H, member 1 pseudogene|olfactory receptor, family 51, subfamily H, member 1" Olfactory receptors, family 51 164 2001-02-28 2014-10-07 2015-12-09 2015-12-09 401663 ENSG00000176904 OTTHUMG00000066512 NR_171273 Q8NH63 MGI:3030389 RGD:1593885 OR51H1P HGNC:14833 +HGNC:15199 OR51H2P olfactory receptor family 51 subfamily H member 2 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily H, member 2 pseudogene Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 401664 ENSG00000198217 OTTHUMG00000066500 NG_004389 PGOHUM00000242569 OR51H2P HGNC:15199 +HGNC:15200 OR51I1 olfactory receptor family 51 subfamily I member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily I, member 1 Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 390063 ENSG00000167359 OTTHUMG00000066908 uc010qze.3 BK004429 NM_001005288 CCDS31382 Q9H343 MGI:3030474 RGD:1334127 OR51I1 HGNC:15200 "ENST00000380211.1|NM_001005288.3" +HGNC:15201 OR51I2 olfactory receptor family 51 subfamily I member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily I, member 2 Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 390064 ENSG00000187918 OTTHUMG00000066902 uc010qzf.3 BK004381 NM_001004754 CCDS31383 Q9H344 MGI:3030475 RGD:1332767 OR51I2 HGNC:15201 "ENST00000641930.1|NM_001004754.3" +HGNC:14856 OR51J1 olfactory receptor family 51 subfamily J member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "OR51J2|OR51J1P" "olfactory receptor, family 51, subfamily J, member 1|olfactory receptor, family 51, subfamily J, member 1 (gene/pseudogene)|olfactory receptor family 51 subfamily J member 1 (gene/pseudogene)" Olfactory receptors, family 51 164 2001-02-28 2004-03-10 2020-05-01 2021-10-06 79470 ENSG00000184321 OTTHUMG00000066666 uc057yhp.1 NM_001348224 Q9H342 MGI:3030467 RGD:1333481 OR51J1 HGNC:14856 +HGNC:15202 OR51K1P olfactory receptor family 51 subfamily K member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily K, member 1 pseudogene Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 81278 ENSG00000248424 OTTHUMG00000066890 NG_004226 PGOHUM00000262862 OR51K1P HGNC:15202 +HGNC:14759 OR51L1 olfactory receptor family 51 subfamily L member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily L, member 1 Olfactory receptors, family 51 164 2001-02-28 2015-12-09 2015-12-09 119682 ENSG00000176798 OTTHUMG00000066605 uc010qyu.2 AB065799 NM_001004755 CCDS31369 Q8NGJ5 RGD:1333532 OR51L1 HGNC:14759 "ENST00000641819.1|NM_001004755.2" +HGNC:14847 OR51M1 olfactory receptor family 51 subfamily M member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily M, member 1 Olfactory receptors, family 51 164 2001-02-28 2015-12-09 2015-12-09 390059 ENSG00000184698 OTTHUMG00000066680 uc010qzc.3 BK004382 NM_001004756 CCDS53596 Q9H341 MGI:3030465 OR51M1 HGNC:14847 "ENST00000642046.1|NM_001004756.3" +HGNC:14757 OR51N1P olfactory receptor family 51 subfamily N member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily N, member 1 pseudogene Olfactory receptors, family 51 164 2001-02-28 2015-12-09 2015-12-09 119696 ENSG00000176951 OTTHUMG00000066509 NG_004281 PGOHUM00000264427 OR51N1P HGNC:14757 +HGNC:14762 OR51P1P olfactory receptor family 51 subfamily P member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OR51P2P olfactory receptor, family 51, subfamily P, member 1 pseudogene Olfactory receptors, family 51 164 2001-02-28 2015-12-09 2015-12-09 79300 ENSG00000224300 OTTHUMG00000066615 NG_002232 PGOHUM00000242570 OR51P1P HGNC:14762 +HGNC:14851 OR51Q1 olfactory receptor family 51 subfamily Q member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "olfactory receptor, family 51, subfamily Q, member 1|olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)|olfactory receptor family 51 subfamily Q member 1 (gene/pseudogene)" Olfactory receptors, family 51 164 2001-02-28 2020-05-01 2020-05-01 390061 ENSG00000167360 OTTHUMG00000066896 uc010qzd.2 AB065531 NM_001004757 CCDS31381 Q8NH59 "MGI:3030469|MGI:3030472" RGD:1334354 OR51Q1 HGNC:14851 "ENST00000300778.4|NM_001004757.2" +HGNC:15203 OR51R1P olfactory receptor family 51 subfamily R member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily R, member 1 pseudogene Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 390034 ENSG00000237272 OTTHUMG00000154338 NG_004318 PGOHUM00000242564 OR51R1P HGNC:15203 +HGNC:15204 OR51S1 olfactory receptor family 51 subfamily S member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily S, member 1 Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 119692 ENSG00000176922 OTTHUMG00000066506 uc010qyo.2 AB065796 NM_001004758 CCDS31362 Q8NGJ8 MGI:3030405 RGD:1333161 OR51S1 HGNC:15204 "ENST00000322101.5|NM_001004758.1" +HGNC:15205 OR51T1 olfactory receptor family 51 subfamily T member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 51, subfamily T, member 1 Olfactory receptors, family 51 164 2001-03-28 2015-12-09 2015-12-09 401665 ENSG00000176900 OTTHUMG00000066507 uc010qyp.2 BK004283 NM_001004759 CCDS31363 Q8NGJ9 MGI:3030408 RGD:1563481 OR51T1 HGNC:15205 "ENST00000322049.1|NM_001004759.3" +HGNC:19597 OR51V1 olfactory receptor family 51 subfamily V member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR51A12 olfactory receptor, family 51, subfamily V, member 1 Olfactory receptors, family 51 164 2002-11-04 2015-12-09 2015-12-09 283111 ENSG00000176742 OTTHUMG00000066671 uc010qyz.2 BK004432 NM_001004760 CCDS31375 Q9H2C8 "MGI:3030454|MGI:3030458" RGD:1334390 OR51V1 HGNC:19597 "ENST00000641270.1|NM_001004760.3" +HGNC:8318 OR52A1 olfactory receptor family 52 subfamily A member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 HPFH1OR olfactory receptor, family 52, subfamily A, member 1 Olfactory receptors, family 52 165 1999-10-13 2015-12-09 2015-12-09 23538 ENSG00000182070 OTTHUMG00000066603 uc057ygv.1 AF154673 NM_012375 CCDS31374 Q9UKL2 10512676 RGD:1333141 OR52A1 HGNC:8318 "ENST00000380367.3|NM_012375.3" +HGNC:19579 OR52A4P olfactory receptor family 52 subfamily A member 4 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OR52A4 "olfactory receptor, family 52, subfamily A, member 4|olfactory receptor, family 52, subfamily A, member 4, pseudogene" Olfactory receptors, family 52 165 2002-11-04 2015-02-27 2015-12-09 2015-12-09 390053 ENSG00000205494 OTTHUMG00000066610 NG_029079 A6NMU1 PGOHUM00000262031 OR52A4 HGNC:19579 +HGNC:19580 OR52A5 olfactory receptor family 52 subfamily A member 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily A, member 5 Olfactory receptors, family 52 165 2002-11-04 2015-12-09 2015-12-09 390054 ENSG00000171944 OTTHUMG00000066616 uc010qyx.2 BK004433 NM_001005160 CCDS31373 Q9H2C5 "MGI:1341789|MGI:1341790" RGD:1333008 OR52A5 HGNC:19580 "ENST00000307388.2|NM_001005160.3" +HGNC:15206 OR52B1P olfactory receptor family 52 subfamily B member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily B, member 1 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 81274 ENSG00000180909 OTTHUMG00000187081 NG_004225 RGD:1333229 PGOHUM00000257804 OR52B1P HGNC:15206 +HGNC:15207 OR52B2 olfactory receptor family 52 subfamily B member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily B, member 2 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2016-01-15 255725 ENSG00000255307 OTTHUMG00000165732 uc010qzy.3 AB065763 NM_001004052 CCDS53598 Q96RD2 MGI:3030525 RGD:1332958 OR52B2 HGNC:15207 "ENST00000530810.2|NM_001004052.1" +HGNC:15208 OR52B3P olfactory receptor family 52 subfamily B member 3 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily B, member 3 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 387747 ENSG00000175800 OTTHUMG00000154223 NG_004311 PGOHUM00000242563 OR52B3P HGNC:15208 +HGNC:15209 OR52B4 olfactory receptor family 52 subfamily B member 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "olfactory receptor, family 52, subfamily B, member 4 (gene/pseudogene)|olfactory receptor family 52 subfamily B member 4 (gene/pseudogene)" Olfactory receptors, family 52 165 2001-03-28 2020-05-01 2020-05-01 143496 ENSG00000221996 OTTHUMG00000154222 uc057yfv.1 AB065792 NM_001005161 Q8NGK2 MGI:3030381 RGD:1334081 OR52B4 HGNC:15209 "ENST00000624801.3|NM_001005161.3" +HGNC:15210 OR52B5P olfactory receptor family 52 subfamily B member 5 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily B, member 5 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 81270 ENSG00000231049 OTTHUMG00000066901 NG_004224 PGOHUM00000257870 OR52B5P HGNC:15210 +HGNC:15211 OR52B6 olfactory receptor family 52 subfamily B member 6 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily B, member 6 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 340980 ENSG00000187747 OTTHUMG00000066906 uc010qzi.2 AB065858 NM_001005162 CCDS41611 Q8NGF0 RGD:1333560 OR52B6 HGNC:15211 "ENST00000345043.2|NM_001005162.2" +HGNC:15212 OR52D1 olfactory receptor family 52 subfamily D member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "olfactory receptor, family 52, subfamily D, member 1|olfactory receptor family 52 subfamily D member 1 (gene/pseudogene)" Olfactory receptors, family 52 165 2001-03-28 2020-05-01 2020-05-01 390066 ENSG00000181609 OTTHUMG00000066895 uc010qzg.3 BK004276 NM_001005163 CCDS31384 Q9H346 MGI:3030480 RGD:1333972 OR52D1 HGNC:15212 "ENST00000322641.5|NM_001005163.2" +HGNC:14766 OR52E1 olfactory receptor family 52 subfamily E member 1 (gene/pseudogene) protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR52E1P "olfactory receptor, family 52, subfamily E, member 1 pseudogene|olfactory receptor, family 52, subfamily E, member 1 gene/pseudogene|olfactory receptor, family 52, subfamily E, member 1 (gene/pseudogene)" Olfactory receptors, family 52 165 2001-02-28 2008-01-23 2015-12-09 2017-11-09 79296 ENSG00000273085 OTTHUMG00000066611 uc057ygt.1 NM_001348221 CCDS86173 Q8NGJ3 RGD:1333697 PGOHUM00000242572 OR52E1P HGNC:14766 +HGNC:14769 OR52E2 olfactory receptor family 52 subfamily E member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily E, member 2 Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2015-12-09 119678 ENSG00000176787 OTTHUMG00000066608 uc010qyw.2 AB065800 NM_001005164 CCDS31371 Q8NGJ4 MGI:3030423 RGD:1334015 OR52E2 HGNC:14769 "ENST00000321522.2|NM_001005164.2" +HGNC:14793 OR52E3P olfactory receptor family 52 subfamily E member 3 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily E, member 3 pseudogene Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2015-12-09 79533 ENSG00000226157 OTTHUMG00000066609 NG_002269 PGOHUM00000242573 OR52E3P HGNC:14793 +HGNC:15213 OR52E4 olfactory receptor family 52 subfamily E member 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily E, member 4 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 390081 ENSG00000180974 OTTHUMG00000168804 uc010qzs.3 AB065817 NM_001005165 CCDS31401 Q8NGH9 MGI:3030511 RGD:1332780 OR52E4 HGNC:15213 "ENST00000641726.1|NM_001005165.2" +HGNC:15214 OR52E5 olfactory receptor family 52 subfamily E member 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily E, member 5 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2017-12-01 390082 ENSG00000277932 OTTHUMG00000187075 uc057yiu.1 AB065536 NM_001005166 Q8NH55 MGI:3030512 RGD:1332760 OR52E5 HGNC:15214 "ENST00000610445.2|NM_001005166.5" +HGNC:15215 OR52E6 olfactory receptor family 52 subfamily E member 6 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily E, member 6 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2020-04-01 390078 ENSG00000205409 OTTHUMG00000168802 uc010qzq.3 AB065815 NM_001005167 CCDS53597 Q96RD3 RGD:1334364 OR52E6 HGNC:15215 "ENST00000329322.5|NM_001005167.2" +HGNC:15216 OR52E7P olfactory receptor family 52 subfamily E member 7 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily E, member 7 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 81264 ENSG00000233563 OTTHUMG00000154351 NG_004223 PGOHUM00000242582 OR52E7P HGNC:15216 +HGNC:15217 OR52E8 olfactory receptor family 52 subfamily E member 8 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "olfactory receptor, family 52, subfamily E, member 8 pseudogene|olfactory receptor, family 52, subfamily E, member 8" Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 390079 ENSG00000183269 OTTHUMG00000168803 uc010qzr.3 BK004301 NM_001005168 CCDS31400 Q6IFG1 "MGI:3030505|MGI:3030509" RGD:1333955 OR52E8 HGNC:15217 "ENST00000537935.2|NM_001005168.3" +HGNC:15218 OR52H1 olfactory receptor family 52 subfamily H member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "olfactory receptor, family 52, subfamily H, member 1|olfactory receptor family 52 subfamily H member 1 (gene/pseudogene)" Olfactory receptors, family 52 165 2001-03-28 2020-05-01 2020-05-01 390067 ENSG00000181616 OTTHUMG00000066909 uc010qzh.2 AB065802 NM_001005289 CCDS31386 Q8NGJ2 MGI:3030482 RGD:1333715 OR52H1 HGNC:15218 "ENST00000322653.7|NM_001005289.5" +HGNC:15219 OR52H2P olfactory receptor family 52 subfamily H member 2 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily H, member 2 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 81261 ENSG00000248553 OTTHUMG00000066894 NG_004222 PGOHUM00000257802 OR52H2P HGNC:15219 +HGNC:15220 OR52I1 olfactory receptor family 52 subfamily I member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily I, member 1 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2020-04-01 390037 ENSG00000232268 OTTHUMG00000165722 uc010qyi.2 BK004371 NM_001005169 CCDS59223 Q8NGK6 MGI:3030390 RGD:1593877 OR52I1 HGNC:15220 "ENST00000530443.4|NM_001005169.1" +HGNC:15221 OR52I2 olfactory receptor family 52 subfamily I member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily I, member 2 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 143502 ENSG00000226288 OTTHUMG00000165721 uc010qyh.2 BK004264 NM_001005170 CCDS31355 Q8NH67 MGI:3030390 OR52I2 HGNC:15221 +HGNC:14760 OR52J1P olfactory receptor family 52 subfamily J member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily J, member 1 pseudogene Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2015-12-09 79302 ENSG00000203560 OTTHUMG00000066601 NG_002234 PGOHUM00000242574 OR52J1P HGNC:14760 +HGNC:14797 OR52J2P olfactory receptor family 52 subfamily J member 2 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OR52J4P olfactory receptor, family 52, subfamily J, member 2 pseudogene Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2015-12-09 79529 ENSG00000230261 OTTHUMG00000066606 NG_002266 PGOHUM00000242571 OR52J2P HGNC:14797 +HGNC:14799 OR52J3 olfactory receptor family 52 subfamily J member 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily J, member 3 Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2015-12-09 119679 ENSG00000205495 OTTHUMG00000066600 uc010qyv.2 AB065530 NM_001001916 CCDS31370 Q8NH60 MGI:3030426 RGD:1333934 OR52J3 HGNC:14799 "ENST00000380370.1|NM_001001916.2" +HGNC:15222 OR52K1 olfactory receptor family 52 subfamily K member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily K, member 1 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 390036 ENSG00000196778 OTTHUMG00000165705 uc001lza.2 AB065790 NM_001005171 CCDS31352 Q8NGK4 MGI:3030386 RGD:1333293 OR52K1 HGNC:15222 "ENST00000641528.1|NM_001005171.3" +HGNC:15223 OR52K2 olfactory receptor family 52 subfamily K member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily K, member 2 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 119774 ENSG00000181963 OTTHUMG00000165703 uc001lyz.2 AB065791 NM_001005172 CCDS31351 Q8NGK3 MGI:3030386 RGD:1333028 OR52K2 HGNC:15223 "ENST00000325719.4|NM_001005172.2" +HGNC:15224 OR52K3P olfactory receptor family 52 subfamily K member 3 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily K, member 3 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 390035 ENSG00000225101 OTTHUMG00000165704 AF143328 NG_004319 PGOHUM00000242565 OR52K3P HGNC:15224 +HGNC:14785 OR52L1 olfactory receptor family 52 subfamily L member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "olfactory receptor, family 52, subfamily L, member 1|olfactory receptor family 52 subfamily L member 1 (gene/pseudogene)" Olfactory receptors, family 52 165 2001-02-28 2020-05-01 2020-05-01 338751 ENSG00000183313 OTTHUMG00000165374 uc001mcd.2 AB065819 NM_001005173 CCDS44529 Q8NGH7 MGI:3030519 RGD:1334283 OR52L1 HGNC:14785 "ENST00000332249.4|NM_001005173.3" +HGNC:14788 OR52L2P olfactory receptor family 52 subfamily L member 2 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OR52L2 olfactory receptor, family 52, subfamily L, member 2 pseudogene Olfactory receptors, family 52 165 2001-02-28 2004-03-10 2015-12-09 2015-12-09 79274 ENSG00000262980 OTTHUMG00000177791 NG_003195 Q8NGH6 PGOHUM00000258560 OR52L2P HGNC:14788 +HGNC:15225 OR52M1 olfactory receptor family 52 subfamily M member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR52M1P "olfactory receptor, family 52, subfamily M, member 1 pseudogene|olfactory receptor, family 52, subfamily M, member 1" Olfactory receptors, family 52 165 2001-03-28 2002-11-15 2015-12-09 2015-12-09 119772 ENSG00000197790 OTTHUMG00000165706 uc010qyf.2 AB065789 NM_001004137 CCDS31353 Q8NGK5 MGI:3030388 RGD:1333547 OR52M1 HGNC:15225 "ENST00000360213.1|NM_001004137.1" +HGNC:15226 OR52M2P olfactory receptor family 52 subfamily M member 2 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OR52M4 olfactory receptor, family 52, subfamily M, member 2 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 338637 ENSG00000226616 OTTHUMG00000154339 NG_004305 PGOHUM00000242131 OR52M2P HGNC:15226 +HGNC:14853 OR52N1 olfactory receptor family 52 subfamily N member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily N, member 1 Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2015-12-09 79473 ENSG00000181001 OTTHUMG00000168800 uc010qzo.2 AB065538 NM_001001913 CCDS31398 Q8NH53 RGD:1333881 OR52N1 HGNC:14853 "ENST00000641645.1|NM_001001913.2" +HGNC:15228 OR52N2 olfactory receptor family 52 subfamily N member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily N, member 2 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 390077 ENSG00000180988 OTTHUMG00000168801 uc010qzp.3 AB065816 NM_001005174 CCDS31399 Q8NGI0 MGI:3030500 RGD:1332903 OR52N2 HGNC:15228 "ENST00000317037.3|NM_001005174.3" +HGNC:15229 OR52N3P olfactory receptor family 52 subfamily N member 3 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily N, member 3 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 81251 ENSG00000236965 OTTHUMG00000154349 NG_004221 PGOHUM00000242581 OR52N3P HGNC:15229 +HGNC:15230 OR52N4 olfactory receptor family 52 subfamily N member 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "olfactory receptor, family 52, subfamily N, member 4|olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)|olfactory receptor family 52 subfamily N member 4 (gene/pseudogene)" Olfactory receptors, family 52 165 2001-03-28 2020-05-01 2020-05-01 390072 ENSG00000181074 OTTHUMG00000066887 uc001mbu.3 AB065813 NM_001005175 CCDS44528 Q8NGI2 "MGI:3030337|MGI:3030492" RGD:1333167 OR52N4 HGNC:15230 "ENST00000641350.2|NM_001005175.5" +HGNC:15231 OR52N5 olfactory receptor family 52 subfamily N member 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR52N5Q olfactory receptor, family 52, subfamily N, member 5 Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 390075 ENSG00000181009 OTTHUMG00000168799 uc010qzn.2 AB065535 NM_001001922 CCDS31397 Q8NH56 MGI:3030503 RGD:1333835 OR52N5 HGNC:15231 "ENST00000641181.1|NM_001385662.1" +HGNC:15232 OR52P1 olfactory receptor family 52 subfamily P member 1 (gene/pseudogene) protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR52P1P "olfactory receptor, family 52, subfamily P, member 1 pseudogene|olfactory receptor family 52 subfamily P member 1 pseudogene" Olfactory receptors, family 52 165 2001-03-28 2021-12-03 2021-12-03 2021-12-03 81248 ENSG00000181109 OTTHUMG00000066888 NR_172915 Q8NH57 MGI:3030490 RGD:1334093 PGOHUM00000257871 OR52P1P HGNC:15232 +HGNC:15233 OR52P2P olfactory receptor family 52 subfamily P member 2 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily P, member 2 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 119775 ENSG00000171999 OTTHUMG00000165702 NG_004282 PGOHUM00000257800 OR52P2P HGNC:15233 +HGNC:15234 OR52Q1P olfactory receptor family 52 subfamily Q member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily Q, member 1 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2017-10-30 81246 ENSG00000277514 OTTHUMG00000187076 NG_004219 PGOHUM00000290810 OR52Q1P HGNC:15234 +HGNC:15235 OR52R1 olfactory receptor family 52 subfamily R member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "olfactory receptor, family 52, subfamily R, member 1 (gene/pseudogene)|olfactory receptor family 52 subfamily R member 1 (gene/pseudogene)" Olfactory receptors, family 52 165 2001-03-28 2020-05-01 2020-05-01 119695 ENSG00000279270 OTTHUMG00000066510 uc021qcs.1 BK004282 NM_001005177 Q8NGF1 "MGI:3030403|MGI:3030416|MGI:3030418" RGD:1332815 OR52R1 HGNC:15235 "ENST00000624978.1|NM_001005177.3" +HGNC:14805 OR52S1P olfactory receptor family 52 subfamily S member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily S, member 1 pseudogene Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2015-12-09 79521 ENSG00000237354 OTTHUMG00000066607 NG_002262 PGOHUM00000242139 OR52S1P HGNC:14805 +HGNC:15236 OR52T1P olfactory receptor family 52 subfamily T member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily T, member 1 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 81244 ENSG00000233646 OTTHUMG00000066910 NG_004218 PGOHUM00000242150 OR52T1P HGNC:15236 +HGNC:15237 OR52U1P olfactory receptor family 52 subfamily U member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily U, member 1 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 81243 ENSG00000232381 OTTHUMG00000066907 NG_004217 PGOHUM00000242578 OR52U1P HGNC:15237 +HGNC:15238 OR52V1P olfactory receptor family 52 subfamily V member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily V, member 1 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 81242 ENSG00000249633 OTTHUMG00000066905 NG_004216 PGOHUM00000257801 OR52V1P HGNC:15238 +HGNC:15239 OR52W1 olfactory receptor family 52 subfamily W member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR52W1P olfactory receptor, family 52, subfamily W, member 1 Olfactory receptors, family 52 165 2001-03-28 2004-03-10 2015-12-09 2015-12-09 120787 ENSG00000175485 OTTHUMG00000165378 uc010qzz.3 AB065511 NM_001005178 CCDS31407 Q6IF63 MGI:3030526 RGD:1594988 OR52W1 HGNC:15239 "ENST00000311352.3|NM_001005178.1" +HGNC:14790 OR52X1P olfactory receptor family 52 subfamily X member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 52, subfamily X, member 1 pseudogene Olfactory receptors, family 52 165 2001-02-28 2015-12-09 2015-12-09 79272 ENSG00000234895 OTTHUMG00000154352 NG_002220 PGOHUM00000242155 OR52X1P HGNC:14790 +HGNC:15240 OR52Y1P olfactory receptor family 52 subfamily Y member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OR52Y2P olfactory receptor, family 52, subfamily Y, member 1 pseudogene Olfactory receptors, family 52 165 2001-03-28 2015-12-09 2015-12-09 81240 ENSG00000231070 OTTHUMG00000066504 NG_004215 PGOHUM00000242136 OR52Y1P HGNC:15240 +HGNC:19596 OR52Z1P olfactory receptor family 52 subfamily Z member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OR52Z1 "olfactory receptor, family 52, subfamily Z, member 1 pseudogene|olfactory receptor, family 52, subfamily Z, member 1 (gene/pseudogene)|olfactory receptor family 52 subfamily Z member 1|olfactory receptor family 52 subfamily Z member 1 (gene/pseudogene)" Olfactory receptors, family 52 165 2002-11-04 2021-12-06 2021-12-06 2021-12-06 283110 ENSG00000176748 OTTHUMG00000066624 uc021qct.2 NR_172914 P0C646 MGI:1341911 RGD:1334327 PGOHUM00000242141 OR52Z1P HGNC:19596 +HGNC:15241 OR55B1P olfactory receptor family 55 subfamily B member 1 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 "OR55B2P|OR55C1P" olfactory receptor, family 55, subfamily B, member 1 pseudogene Olfactory receptors, family 55 166 2001-03-28 2015-12-09 2015-12-09 390030 ENSG00000231548 OTTHUMG00000154224 NG_027992 PGOHUM00000257796 OR55B1P HGNC:15241 +HGNC:14781 OR56A1 olfactory receptor family 56 subfamily A member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 56, subfamily A, member 1 Olfactory receptors, family 56 167 2001-02-28 2015-12-09 2015-12-09 120796 ENSG00000180934 OTTHUMG00000165377 uc010qzw.2 AB065821 NM_001001917 CCDS31405 Q8NGH5 OR56A1 HGNC:14781 "ENST00000641900.1|NM_001388488.1" +HGNC:14786 OR56A3 olfactory receptor family 56 subfamily A member 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "OR56A6|OR56A3P" olfactory receptor, family 56, subfamily A, member 3 Olfactory receptors, family 56 167 2001-02-28 2004-03-10 2015-12-09 2015-12-09 390083 ENSG00000184478 OTTHUMG00000165373 uc010qzt.3 NM_001003443 CCDS41614 Q8NH54 "MGI:3030513|MGI:3030515" RGD:1332687 OR56A3 HGNC:14786 "ENST00000641160.1|NM_001003443.3" +HGNC:14791 OR56A4 olfactory receptor family 56 subfamily A member 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 56, subfamily A, member 4 Olfactory receptors, family 56 167 2001-02-28 2015-12-09 2015-12-09 120793 ENSG00000183389 OTTHUMG00000165376 uc010qzv.3 BK004255 NM_001005179 CCDS31404 Q8NGH8 MGI:3030518 RGD:1332887 OR56A4 HGNC:14791 "ENST00000641156.1|NM_001005179.4" +HGNC:14792 OR56A5 olfactory receptor family 56 subfamily A member 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR56A5P olfactory receptor, family 56, subfamily A, member 5 Olfactory receptors, family 56 167 2001-02-28 2004-03-10 2015-12-09 2020-04-01 390084 ENSG00000188691 OTTHUMG00000165730 uc010qzu.2 NM_001146033 CCDS73248 P0C7T3 MGI:3030517 OR56A5 HGNC:14792 "ENST00000532411.2|NM_001146033.1" +HGNC:15244 OR56A7P olfactory receptor family 56 subfamily A member 7 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 56, subfamily A, member 7 pseudogene Olfactory receptors, family 56 167 2001-03-28 2015-12-09 2015-12-09 81236 ENSG00000255481 OTTHUMG00000165731 NG_004214 PGOHUM00000242154 OR56A7P HGNC:15244 +HGNC:15245 OR56B1 olfactory receptor family 56 subfamily B member 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OR56B1P olfactory receptor, family 56, subfamily B, member 1 Olfactory receptors, family 56 167 2001-03-28 2004-03-10 2015-12-09 2015-12-09 387748 ENSG00000181023 OTTHUMG00000066891 uc001mbt.3 BK004386 NM_001005180 CCDS31395 Q8NGI3 "MGI:3030338|MGI:3030491" RGD:1334411 OR56B1 HGNC:15245 "ENST00000317121.6|NM_001005180.3" +HGNC:15246 OR56B2P olfactory receptor family 56 subfamily B member 2 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 OR56B2 "olfactory receptor, family 56, subfamily B, member 2|olfactory receptor, family 56, subfamily B, member 2 pseudogene" Olfactory receptors, family 56 167 2001-03-28 2004-03-10 2015-12-09 2015-12-09 390073 ENSG00000181017 OTTHUMG00000168798 NM_001396057 Q8NGI1 MGI:3030495 RGD:1333757 PGOHUM00000242580 OR56B2P HGNC:15246 +HGNC:15247 OR56B3P olfactory receptor family 56 subfamily B member 3 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 olfactory receptor, family 56, subfamily B, member 3 pseudogene Olfactory receptors, family 56 167 2001-03-28 2015-12-09 2015-12-09 401675 ENSG00000180913 OTTHUMG00000187058 NG_004390 OR56B3P HGNC:15247 +HGNC:15248 OR56B4 olfactory receptor family 56 subfamily B member 4 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 olfactory receptor, family 56, subfamily B, member 4 Olfactory receptors, family 56 167 2001-03-28 2015-12-09 2015-12-09 196335 ENSG00000180919 OTTHUMG00000165531 uc010qzx.3 AB065513 NM_001005181 CCDS31406 Q8NH76 "MGI:3030522|MGI:3030523" RGD:1333227 OR56B4 HGNC:15248 "ENST00000316529.3|NM_001005181.2" +HGNC:25896 ORAI1 ORAI calcium release-activated calcium modulator 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ14466|CRACM1" calcium release-activated calcium modulator 1 TMEM142A transmembrane protein 142A ORAI calcium release-activated calcium modulators 668 2006-04-10 2007-08-14 2007-08-14 2021-05-26 84876 ENSG00000276045 OTTHUMG00000169073 uc031zps.1 AK027372 NM_032790 Q96D31 16582901 MGI:1925542 RGD:1311873 "ORAI1base: Mutation registry for severe combined immunodeficiency |http://structure.bmc.lu.se/idbase/ORAI1base/|LRG_93|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_93.xml" 610277 201295 objectId:2964 HGNC:25896 HGNC:25896 +HGNC:21667 ORAI2 ORAI calcium release-activated calcium modulator 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CBCIP2|FLJ12474|FLJ14733|H_NH0514P08.8" CAP-binding protein complex interacting protein 2 "C7orf19|TMEM142B" "chromosome 7 open reading frame 19|transmembrane protein 142B" ORAI calcium release-activated calcium modulators 668 2003-07-09 2007-08-14 2007-08-14 2016-07-18 80228 ENSG00000160991 OTTHUMG00000157722 uc003uzj.3 AF258552 NM_032831 CCDS5722 Q96SN7 "16582901|23890118" MGI:2443195 RGD:1310213 610929 objectId:2965 HGNC:21667 "ENST00000495936.7|NM_001126340.3" +HGNC:28185 ORAI3 ORAI calcium release-activated calcium modulator 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC13024 TMEM142C transmembrane protein 142C ORAI calcium release-activated calcium modulators 668 2006-06-20 2007-08-14 2007-08-14 2016-07-18 93129 ENSG00000175938 OTTHUMG00000176768 uc002eac.4 BC006126 NM_152288 CCDS10697 Q9BRQ5 "16582901|26956485|26718630|23890118" MGI:3039586 RGD:1306538 610930 objectId:2966 HGNC:28185 "ENST00000318663.5|NM_152288.3" +HGNC:8487 ORC1 origin recognition complex subunit 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "HSORC1|PARC1" "origin recognition complex, subunit 1, S. cerevisiae, homolog-like|origin recognition complex 1|replication control protein 1" ORC1L "origin recognition complex, subunit 1 (yeast homolog)-like|origin recognition complex, subunit 1-like (yeast)|origin recognition complex, subunit 1 homolog (S. cerevisiae)|origin recognition complex, subunit 1" "AAA ATPases|Origin recognition complex " "413|960" 1997-06-24 2010-10-12 2015-11-12 2021-05-26 4998 ENSG00000085840 OTTHUMG00000008104 uc001ctt.4 NM_004153 CCDS566 Q13415 8884289 MGI:1328337 RGD:631435 601902 260588 HGNC:8487 "ENST00000371568.8|NM_004153.4" HGNC:8487 +HGNC:54921 ORC1P1 ORC1 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-04-24 340569 ENSG00000224589 NG_002790 +HGNC:8488 ORC2 origin recognition complex subunit 2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 ORC2L "origin recognition complex, subunit 2 (yeast homolog)-like|origin recognition complex, subunit 2-like (yeast)|origin recognition complex, subunit 2 homolog (yeast)|origin recognition complex, subunit 2" Origin recognition complex 960 1995-09-28 2010-10-12 2015-11-12 2016-10-05 4999 ENSG00000115942 OTTHUMG00000132783 uc002uwr.4 NM_006190 CCDS2334 Q13416 8808289 MGI:1328306 RGD:1311844 601182 HGNC:8488 "ENST00000234296.7|NM_006190.5" +HGNC:8489 ORC3 origin recognition complex subunit 3 protein-coding gene gene with protein product Approved 6q15 06q15 "IMAGE50150|LATHEO" ORC3L "origin recognition complex, subunit 3 (yeast homolog)-like|origin recognition complex, subunit 3-like (yeast)|origin recognition complex, subunit 3 honolog (yeast)|origin recognition complex, subunit 3" Origin recognition complex 960 1999-11-16 2010-10-12 2015-11-12 2016-10-05 23595 ENSG00000135336 OTTHUMG00000015179 uc003pmg.4 AF093535 NM_001197259 "CCDS43486|CCDS56440|CCDS5012" Q9UBD5 "9829972|10402192" MGI:1354944 RGD:1308457 604972 HGNC:8489 "ENST00000392844.8|NM_012381.4" +HGNC:8490 ORC4 origin recognition complex subunit 4 protein-coding gene gene with protein product Approved 2q23.1 02q23.1 "HsORC4|Orc4p" ORC4L "origin recognition complex, subunit 4 (yeast homolog)-like|origin recognition complex, subunit 4-like (yeast)|origin recognition complex, subunit 4-like (S. cerevisiae)|origin recognition complex, subunit 4 homolog (S. cerevisiae)|origin recognition complex, subunit 4" "AAA ATPases|Origin recognition complex " "413|960" 1998-08-26 2010-10-12 2015-11-12 2021-05-26 5000 ENSG00000115947 OTTHUMG00000131849 uc002twk.3 AF022108 NM_181742 "CCDS54404|CCDS2187|CCDS54405" O43929 "9353276|9691185" MGI:1347043 RGD:735212 603056 260335 HGNC:8490 "ENST00000392857.10|NM_181741.4" HGNC:8490 +HGNC:8491 ORC5 origin recognition complex subunit 5 protein-coding gene gene with protein product Approved 7q22.1-q22.2 07q22.1-q22.2 "Orc5p|ORC5T|PPP1R117" protein phosphatase 1, regulatory subunit 117 ORC5L "origin recognition complex, subunit 5 (yeast homolog)-like|origin recognition complex, subunit 5-like (yeast)|origin recognition complex, subunit 5 homolog (yeast)|origin recognition complex, subunit 5" "Protein phosphatase 1 regulatory subunits|Origin recognition complex " "694|960" 1998-02-11 2010-10-12 2015-11-12 2018-02-13 5001 ENSG00000164815 OTTHUMG00000157275 uc003vcb.3 NM_002553 "CCDS47681|CCDS5734" O43913 "9417919|9829972" MGI:1347044 RGD:1561088 602331 HGNC:8491 "ENST00000297431.9|NM_002553.4" +HGNC:17151 ORC6 origin recognition complex subunit 6 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 ORC6L "origin recognition complex, subunit 6 homolog-like (yeast)|origin recognition complex, subunit 6 like (yeast)|origin recognition complex, subunit 6" Origin recognition complex 960 2002-02-14 2010-10-12 2015-11-12 2021-05-26 23594 ENSG00000091651 OTTHUMG00000132539 uc002eeh.3 AF139658 NM_014321 CCDS10722 Q9Y5N6 10945994 MGI:1929285 RGD:1311437 607213 260339 HGNC:17151 "ENST00000219097.7|NM_014321.4" HGNC:17151 +HGNC:8498 ORM1 orosomucoid 1 protein-coding gene gene with protein product Approved 9q32 09q32 Lipocalins 631 2001-06-22 2014-11-19 5004 ENSG00000229314 OTTHUMG00000021012 uc004bik.5 NM_000607 CCDS6803 P02763 "MGI:97443|MGI:97444|MGI:97445" RGD:67390 138600 HGNC:8498 "ENST00000259396.9|NM_000607.4" +HGNC:8499 ORM2 orosomucoid 2 protein-coding gene gene with protein product Approved 9q32 09q32 "AGP-B|AGP-B'|AGP2" alpha-1-acid glycoprotein, type 2 Lipocalins 631 1991-03-11 2015-09-03 5005 ENSG00000228278 OTTHUMG00000021014 uc004bil.4 NM_000608 CCDS6804 P19652 "4711474|2970990" "MGI:97443|MGI:97444|MGI:97445" 138610 HGNC:8499 "ENST00000431067.4|NM_000608.4" +HGNC:16036 ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "ORM1 (S. cerevisiae)-like 1|ORM1-like 1 (S. cerevisiae)" 2001-07-27 2014-06-16 2016-10-05 94101 ENSG00000128699 OTTHUMG00000132661 uc002ure.5 NM_016467 CCDS2301 Q9P0S3 "12093374|23066021" MGI:2181669 RGD:2300146 610073 HGNC:16036 "ENST00000392349.9|NM_016467.5" +HGNC:16037 ORMDL2 ORMDL sphingolipid biosynthesis regulator 2 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "HSPC160|adoplin-2|MST095|MSTP095" "ORM1 (S. cerevisiae)-like 2|ORM1-like 2 (S. cerevisiae)" 2001-07-27 2014-06-16 2019-08-21 29095 ENSG00000123353 OTTHUMG00000170202 uc001shw.2 AF395707 NM_014182 CCDS8893 Q53FV1 "12093374|23066021" MGI:1914094 RGD:1305642 610074 HGNC:16037 "ENST00000243045.10|NM_014182.5" +HGNC:16038 ORMDL3 ORMDL sphingolipid biosynthesis regulator 3 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "ORM1 (S. cerevisiae)-like 3|ORM1-like 3 (S. cerevisiae)" 2001-07-27 2014-06-16 2016-10-05 94103 ENSG00000172057 OTTHUMG00000133249 uc002htk.3 NM_139280 CCDS11355 Q8N138 23066021 MGI:1913862 RGD:1560577 610075 HGNC:16038 "ENST00000304046.7|NM_139280.4" +HGNC:16994 OS9 OS9 endoplasmic reticulum lectin protein-coding gene gene with protein product Approved 12q13.3-q14.1 12q13.3-q14.1 "OS-9|ERLEC2" "endoplasmic reticulum lectin 2|erlectin 2" osteosarcoma amplified 9, endoplasmic reticulum lectin MRH domain containing 1233 2009-02-27 2019-01-21 2019-01-21 10956 ENSG00000135506 OTTHUMG00000170284 uc001spj.4 AB002806 NM_006812 "CCDS58248|CCDS58249|CCDS58246|CCDS58247|CCDS31843|CCDS31844|CCDS31845|CCDS31846" Q13438 "8634085|9498564|19346256|18264092|26721884" MGI:1924301 RGD:1359574 609677 HGNC:16994 "ENST00000315970.12|NM_006812.4" +HGNC:8503 OSBP oxysterol binding protein protein-coding gene gene with protein product Approved 11q12.1 11q12.1 OSBP1 "Oxysterol binding proteins|Pleckstrin homology domain containing|MicroRNA protein coding host genes" "670|682|1691" 1990-01-03 2016-10-05 5007 ENSG00000110048 OTTHUMG00000167422 uc001noc.1 AF185696 NM_002556 CCDS7974 P22059 MGI:97447 RGD:1308069 167040 HGNC:8503 "ENST00000263847.6|NM_002556.3" +HGNC:8504 OSBP2 oxysterol binding protein 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "KIAA1664|ORP-4|ORP4" OSBPL1 "Oxysterol binding proteins|Pleckstrin homology domain containing|MicroRNA protein coding host genes" "670|682|1691" 1999-10-29 2014-11-19 23762 ENSG00000184792 OTTHUMG00000151153 uc003aiy.1 NM_030758 "CCDS63448|CCDS63446|CCDS63451|CCDS43002|CCDS63449|CCDS63450" Q969R2 "10591208|11278871|11802775" MGI:1921559 RGD:1310505 606729 HGNC:8504 "ENST00000332585.11|NM_030758.4" +HGNC:16398 OSBPL1A oxysterol binding protein like 1A protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "ORP-1|ORP1" OSBPL1B "oxysterol binding protein-like 1B|oxysterol binding protein-like 1A" "Ankyrin repeat domain containing|Oxysterol binding proteins" "403|670" 2001-09-28 2014-06-03 2015-11-16 2015-11-16 114876 ENSG00000141447 OTTHUMG00000131944 uc002kve.5 "AF392449|AF274714" NM_080597 "CCDS11884|CCDS56056|CCDS11885" Q9BXW6 "11279184|10588946" MGI:1927551 RGD:628888 606730 HGNC:16398 "ENST00000319481.8|NM_080597.4" +HGNC:15761 OSBPL2 oxysterol binding protein like 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "KIAA0772|ORP-2|DFNA67" "oxysterol-binding protein-like 2|oxysterol binding protein-like 2" Oxysterol binding proteins 670 2001-05-31 2015-11-16 2016-10-05 9885 ENSG00000130703 OTTHUMG00000032909 uc002yck.3 AB018315 NM_014835 "CCDS63323|CCDS13495|CCDS86966|CCDS13494" Q9H1P3 "10588946|11861666|25077649" MGI:2442832 RGD:1311312 606731 422342 HGNC:15761 "ENST00000313733.9|NM_144498.4" HGNC:15761 +HGNC:16370 OSBPL3 oxysterol binding protein like 3 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "ORP-3|ORP3|KIAA0704" OSBP3 oxysterol binding protein-like 3 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-08-10 2015-11-16 2015-11-16 26031 ENSG00000070882 OTTHUMG00000023277 uc003sxf.5 AB014604 NM_015550 "CCDS5391|CCDS47564|CCDS5390|CCDS5392" Q9H4L5 9734811 MGI:1918970 RGD:1564287 606732 HGNC:16370 "ENST00000313367.7|NM_015550.4" +HGNC:16392 OSBPL5 oxysterol binding protein like 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA1534|ORP5|OBPH1" oxysterol binding protein homologue 1 oxysterol binding protein-like 5 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2018-06-11 114879 ENSG00000021762 OTTHUMG00000011702 uc001lxk.3 AF392453 NM_001144063 "CCDS31343|CCDS31344" Q9H0X9 MGI:1930265 RGD:1308402 606733 HGNC:16392 "ENST00000263650.12|NM_020896.4" +HGNC:16388 OSBPL6 oxysterol binding protein like 6 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 ORP6 OSBP-related protein 6 oxysterol binding protein-like 6 Oxysterol binding proteins 670 2001-09-28 2015-11-16 2016-10-05 114880 ENSG00000079156 OTTHUMG00000132579 uc002ulx.4 AF392448 NM_032523 "CCDS56151|CCDS56152|CCDS56150|CCDS2278|CCDS2277" Q9BZF3 11483621 MGI:2139014 RGD:1308887 606734 HGNC:16388 "ENST00000190611.9|NM_032523.4" +HGNC:16387 OSBPL7 oxysterol binding protein like 7 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "ORP7|MGC71150" oxysterol binding protein-like 7 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2020-04-20 114881 ENSG00000006025 OTTHUMG00000178288 uc060gpw.1 AF392446 NM_017731 CCDS11515 Q9BZF2 "14593528|11735225" MGI:1918490 RGD:1309141 606735 HGNC:16387 "ENST00000007414.8|NM_145798.3" +HGNC:16396 OSBPL8 oxysterol binding protein like 8 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "OSBP10|ORP8|MST120|MSTP120" oxysterol binding protein-like 8 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2020-04-01 114882 ENSG00000091039 OTTHUMG00000169876 uc001sye.2 AF392452 NM_020841 "CCDS31862|CCDS41814" Q9BZF1 "1735225|17991739" MGI:2443807 RGD:1561474 606736 HGNC:16396 "ENST00000261183.8|NM_020841.5" +HGNC:16386 OSBPL9 oxysterol binding protein like 9 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 oxysterol binding protein-like 9 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2020-04-20 114883 ENSG00000117859 OTTHUMG00000008234 uc001cst.5 AF392445 NM_001330580 "CCDS41334|CCDS41332|CCDS41333|CCDS81322|CCDS55598|CCDS44145|CCDS558" Q96SU4 MGI:1923784 RGD:1311508 606737 HGNC:16386 "ENST00000428468.6|NM_024586.6" +HGNC:48731 OSBPL9P1 oxysterol binding protein like 9 pseudogene 1 pseudogene pseudogene Approved 3p12.2 03p12.2 oxysterol binding protein-like 9 pseudogene 1 2013-06-07 2015-11-16 2016-11-09 100130821 ENSG00000271389 OTTHUMG00000158929 NG_022251 PGOHUM00000299485 HGNC:48731 +HGNC:48732 OSBPL9P2 oxysterol binding protein like 9 pseudogene 2 pseudogene pseudogene Approved 11q14.3 11q14.3 oxysterol binding protein-like 9 pseudogene 2 2013-06-07 2015-11-16 2015-11-16 100130038 ENSG00000254677 OTTHUMG00000167313 NG_023263 PGOHUM00000242421 HGNC:48732 +HGNC:48733 OSBPL9P3 oxysterol binding protein like 9 pseudogene 3 pseudogene pseudogene Approved 11q14.3 11q14.3 oxysterol binding protein-like 9 pseudogene 3 2013-06-07 2015-11-16 2015-11-16 100420591 ENSG00000255070 OTTHUMG00000167314 NG_024546 PGOHUM00000242855 HGNC:48733 +HGNC:48734 OSBPL9P4 oxysterol binding protein like 9 pseudogene 4 pseudogene pseudogene Approved 12q14.3 12q14.3 oxysterol binding protein-like 9 pseudogene 4 2013-06-07 2015-11-16 2015-11-16 100498661 ENSG00000256420 OTTHUMG00000169032 NG_023269 PGOHUM00000239503 HGNC:48734 +HGNC:48735 OSBPL9P5 oxysterol binding protein like 9 pseudogene 5 pseudogene pseudogene Approved 12q14.3 12q14.3 oxysterol binding protein-like 9 pseudogene 5 2013-06-07 2015-11-16 2015-11-16 106480232 ENSG00000256285 OTTHUMG00000169031 NG_021400 PGOHUM00000239836 HGNC:48735 +HGNC:48736 OSBPL9P6 oxysterol binding protein like 9 pseudogene 6 pseudogene pseudogene Approved 7p14.3 07p14.3 oxysterol binding protein-like 9 pseudogene 6 2013-06-07 2015-11-16 2015-11-16 100533673 NG_028678 PGOHUM00000302569 HGNC:48736 +HGNC:16395 OSBPL10 oxysterol binding protein like 10 protein-coding gene gene with protein product Approved 3p23 03p23 oxysterol binding protein-like 10 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2020-04-20 114884 ENSG00000144645 OTTHUMG00000130672 uc021wuu.2 AF392451 NM_001174060 "CCDS2651|CCDS54559" Q9BXB5 MGI:1921736 RGD:1561652 606738 HGNC:16395 "ENST00000396556.7|NM_017784.5" +HGNC:40767 OSBPL10-AS1 OSBPL10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p23 03p23 OSBPL10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874206 ENSG00000232490 OTTHUMG00000155828 uc031ryt.2 NR_049771 OSBPL10-AS1 HGNC:40767 +HGNC:16397 OSBPL11 oxysterol binding protein like 11 protein-coding gene gene with protein product Approved 3q21.2 03q21.2 "ORP-11|ORP11|FLJ13012|FLJ13164" oxysterol binding protein-like 11 "Oxysterol binding proteins|Pleckstrin homology domain containing" "670|682" 2001-09-28 2015-11-16 2020-04-20 114885 ENSG00000144909 OTTHUMG00000159571 uc003eic.4 AF392454 NM_022776 CCDS3033 Q9BXB4 MGI:2146553 RGD:1307294 606739 HGNC:16397 "ENST00000296220.6|NM_022776.5" +HGNC:29960 OSCAR osteoclast associated Ig-like receptor protein-coding gene gene with protein product Approved 19q13.42 19q13.42 osteoclast associated, immunoglobulin-like receptor Immunoglobulin like domain containing 594 2007-06-21 2019-02-21 2019-02-21 126014 ENSG00000170909 OTTHUMG00000064966 uc002qda.5 AK130199 NM_133169 "CCDS12874|CCDS74444|CCDS12875|CCDS12873|CCDS12876|CCDS62789" Q8IYS5 11805147 MGI:2179720 RGD:1559897 606862 HGNC:29960 "ENST00000358375.9|NM_133169.6" +HGNC:29971 OSCP1 organic solute carrier partner 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 NOR1 oxidored nitro domain containing protein C1orf102 chromosome 1 open reading frame 102 Small nucleolar RNA protein coding host genes 1835 2005-06-15 2009-07-06 2009-07-06 2019-02-26 127700 ENSG00000116885 OTTHUMG00000008139 uc001caq.4 NM_145047 "CCDS409|CCDS410|CCDS81301" Q8WVF1 "12819961|16006562" MGI:1916308 RGD:1306596 608854 HGNC:29971 "ENST00000235532.9|NM_145047.5" +HGNC:16105 OSER1 oxidative stress responsive serine rich 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ1183I21.1|HSPC207|Perit1|Osr1" "peroxide-inducible transcript 1|oxidative stress-responsive 1" C20orf111 "chromosome 20 open reading frame 111|oxidative stress responsive serine-rich 1" 2001-07-17 2013-05-17 2016-04-06 2017-03-03 51526 ENSG00000132823 OTTHUMG00000032518 AL035447 NM_016470 CCDS13327 Q9NX31 "17148688|27982722" MGI:1913930 RGD:1303142 HGNC:16105 "ENST00000255174.3|NM_016470.8" +HGNC:48585 OSER1-DT OSER1 divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 OSER1-AS1 OSER1 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-17 2018-03-23 2018-03-23 2018-03-23 100505783 ENSG00000223891 OTTHUMG00000032521 NR_038337 OSER1-AS1 HGNC:48585 +HGNC:18028 OSGEP O-sialoglycoprotein endopeptidase protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "PRSMG1|GCPL1|OSGEP1|KAE1|TCS3" KEOPS complex 1313 2002-01-23 2018-11-22 55644 ENSG00000092094 OTTHUMG00000029543 uc001vxf.4 AB050442 NM_017807 CCDS9549 Q9NPF4 "12039036|28272532|17047052|22912744" MGI:1913496 RGD:1308578 610107 3.4.24.57 HGNC:18028 "ENST00000206542.9|NM_017807.4" HGNC:18028 +HGNC:23075 OSGEPL1 O-sialoglycoprotein endopeptidase like 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "Qri7|OSGEPL" O-sialoglycoprotein endopeptidase-like 1 2003-09-03 2016-08-11 2016-10-05 64172 ENSG00000128694 OTTHUMG00000164096 uc002uqz.2 AJ295148 NM_022353 CCDS46472 Q9H4B0 19578062 MGI:1919335 RGD:1305575 619634 HGNC:23075 "ENST00000264151.10|NM_022353.3" +HGNC:41009 OSGEPL1-AS1 OSGEPL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.2 02q32.2 OSGEPL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2021-03-24 101409258 ENSG00000253559 OTTHUMG00000164097 uc061qpk.1 "BX474356|DB142079" NR_102429 OSGEPL1-AS1 HGNC:41009 +HGNC:30093 OSGIN1 oxidative stress induced growth inhibitor 1 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 "BDGI|OKL38" "bone marrow stromal cell-derived growth inhibitor|pregnancy induced growth inhibitor" 2006-10-05 2014-11-19 29948 ENSG00000140961 OTTHUMG00000137640 uc002fhb.5 AY258066 NM_013370 CCDS10939 Q9UJX0 "11459809|14570898" MGI:1919089 RGD:620679 607975 HGNC:30093 "ENST00000393306.6|NM_182981.3" +HGNC:1355 OSGIN2 oxidative stress induced growth inhibitor family member 2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 hT41 C8orf1 chromosome 8 open reading frame 1 1998-08-06 2006-10-05 2006-10-05 2020-09-17 734 ENSG00000164823 OTTHUMG00000163811 uc003yeh.4 AF061326 NM_004337 "CCDS47888|CCDS6248" Q9Y236 9933573 MGI:2384798 RGD:1306323 604598 HGNC:1355 "ENST00000451899.7|NM_001126111.3" +HGNC:8506 OSM oncostatin M protein-coding gene gene with protein product Approved 22q12.2 22q12.2 MGC20461 Interleukin 6 type cytokine family 1264 1992-07-09 2014-11-18 5008 ENSG00000099985 OTTHUMG00000150913 uc003ahb.4 AF129855 NM_020530 "CCDS82706|CCDS13873" P13725 1717982 MGI:104749 RGD:1585012 165095 ligandId:5035 HGNC:8506 "ENST00000215781.3|NM_020530.6" +HGNC:8507 OSMR oncostatin M receptor protein-coding gene gene with protein product Approved 5p13.1 05p13.1 "OSMRB|OSMRbeta" Oncostatin-M-specific receptor subunit beta Fibronectin type III domain containing 555 1999-02-17 2021-05-26 9180 ENSG00000145623 OTTHUMG00000090811 uc003jln.2 U60805 NM_003999 "CCDS54847|CCDS3928" Q99650 8999038 MGI:1330819 RGD:1302983 601743 140041 objectId:1714 HGNC:8507 "ENST00000274276.8|NM_003999.3" HGNC:8507 +HGNC:50296 OSMR-DT OSMR divergent transcript non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 OSMR-AS1 OSMR antisense RNA 1 (head to head) Divergent transcripts 1990 2014-04-03 2021-04-14 2021-04-14 2021-04-14 101929768 ENSG00000249740 OTTHUMG00000162040 NR_109951 OSMR-AS1 HGNC:50296 +HGNC:8111 OSR1 odd-skipped related transcription factor 1 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 ODD "odd-skipped (Drosophila) homolog|odd-skipped related 1 (Drosophila)" Zinc fingers C2H2-type 28 1995-11-14 2004-11-26 2018-11-05 2018-11-05 130497 ENSG00000143867 OTTHUMG00000088793 uc002rdc.4 BC025712 NM_145260 CCDS1694 Q8TAX0 "2120051|12119563" MGI:1344424 RGD:1311807 608891 HGNC:8111 "ENST00000272223.3|NM_145260.3" +HGNC:15830 OSR2 odd-skipped related transciption factor 2 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 FLJ90037 odd-skipped related 2 (Drosophila) Zinc fingers C2H2-type 28 2004-11-22 2013-10-17 2016-10-25 116039 ENSG00000164920 OTTHUMG00000164640 uc003yir.5 AY038072 NM_053001 "CCDS47901|CCDS47902|CCDS69520" Q8N2R0 MGI:1930813 RGD:1305812 611297 HGNC:15830 "ENST00000297565.9|NM_001142462.3" +HGNC:32483 OST4 oligosaccharyltransferase complex subunit 4, non-catalytic protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "oligosaccharyltransferase 4 homolog (S. cerevisiae)|oligosaccharyltransferase complex subunit 4 (non-catalytic)" Oligosaccharyltransferase complex subunits 445 2010-04-08 2016-03-01 2016-03-01 100128731 ENSG00000228474 OTTHUMG00000151990 uc002rig.4 BC105283 NM_001134693 CCDS58703 P0C6T2 "16317064|23606741" MGI:1914945 RGD:2300150 618932 HGNC:32483 "ENST00000456793.2|NM_001134693.2" +HGNC:24448 OSTC oligosaccharyltransferase complex non-catalytic subunit protein-coding gene gene with protein product Approved 4q25 04q25 DC2 DC2 protein oligosaccharyltransferase complex subunit Oligosaccharyltransferase complex subunits 445 2008-12-16 2016-07-05 2016-07-05 58505 ENSG00000198856 OTTHUMG00000161031 uc003hzb.3 AF201937 NM_021227 "CCDS75177|CCDS58921|CCDS3681" Q9NRP0 15835887 MGI:1913607 RGD:1560708 619023 HGNC:24448 "ENST00000361564.9|NM_021227.4" +HGNC:30530 OSTCP1 oligosaccharyltransferase complex subunit pseudogene 1 pseudogene pseudogene Approved 6q25.3 06q25.3 DC2L DC2 protein-like OSTCL oligosaccharyltransferase complex subunit-like 2008-12-16 2011-09-02 2011-09-02 2021-10-07 202459 ENSG00000243775 OTTHUMG00000015919 BC024224 NR_028496 12477932 PGOHUM00000243434 HGNC:30530 +HGNC:42864 OSTCP2 oligosaccharyltransferase complex subunit pseudogene 2 pseudogene pseudogene Approved 1p36.11 01p36.11 2011-09-02 2011-09-02 646567 ENSG00000225294 OTTHUMG00000004276 XM_047437145 PGOHUM00000243945 HGNC:42864 +HGNC:42865 OSTCP3 oligosaccharyltransferase complex subunit pseudogene 3 pseudogene pseudogene Approved 19q13.42 19q13.42 2011-09-02 2020-04-06 646557 ENSG00000269608 OTTHUMG00000183000 NG_030060 PGOHUM00000234776 HGNC:42865 +HGNC:42866 OSTCP4 oligosaccharyltransferase complex subunit pseudogene 4 pseudogene pseudogene Approved 4q25 04q25 2011-09-02 2011-09-02 645264 ENSG00000220924 OTTHUMG00000161564 NG_030224 PGOHUM00000246036 HGNC:42866 +HGNC:42867 OSTCP5 oligosaccharyltransferase complex subunit pseudogene 5 pseudogene pseudogene Approved 1p34.1 01p34.1 2011-09-02 2014-11-19 100874386 ENSG00000234315 OTTHUMG00000008966 NG_032532 PGOHUM00000244001 HGNC:42867 +HGNC:42868 OSTCP6 oligosaccharyltransferase complex subunit pseudogene 6 pseudogene pseudogene Approved 6p12.1 06p12.1 2012-02-24 2014-11-18 100874387 ENSG00000219790 OTTHUMG00000014911 NG_032533 PGOHUM00000243213 HGNC:42868 +HGNC:42870 OSTCP7 oligosaccharyltransferase complex subunit pseudogene 7 pseudogene pseudogene Approved 17q12 17q12 2011-09-02 2011-09-02 100874391 NG_032535 HGNC:42870 +HGNC:42869 OSTCP8 oligosaccharyltransferase complex subunit pseudogene 8 pseudogene pseudogene Approved 9p13.3 09p13.3 2012-02-24 2014-11-19 100874388 ENSG00000226801 OTTHUMG00000000416 NG_032534 PGOHUM00000236016 HGNC:42869 +HGNC:8510 OSTF1 osteoclast stimulating factor 1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "SH3P2|OSF|bA235O14.1" Ankyrin repeat domain containing 403 1999-12-01 2016-10-05 26578 ENSG00000134996 OTTHUMG00000020033 uc004ajv.5 U63717 NM_012383 CCDS6651 Q92882 10092216 MGI:700012 RGD:628849 610180 HGNC:8510 "ENST00000346234.7|NM_012383.5" +HGNC:31439 OSTF1P1 osteoclast stimulating factor 1 pseudogene 1 pseudogene pseudogene Approved 12q24.21 12q24.21 OSTF1P osteoclast stimulating factor 1 pseudogene 2004-05-10 2010-03-04 2010-03-04 2017-10-30 386654 ENSG00000258244 OTTHUMG00000169591 NG_003109 PGOHUM00000291814 HGNC:31439 +HGNC:21652 OSTM1 osteoclastogenesis associated transmembrane protein 1 protein-coding gene gene with protein product Approved 6q21 06q21 "HSPC019|GL" "CLCN7 accessory beta subunit|grey-lethal" osteopetrosis associated transmembrane protein 1 2003-10-06 2018-08-09 2021-05-26 28962 ENSG00000081087 OTTHUMG00000015317 uc003psd.3 AF533891 NM_014028 CCDS5062 Q86WC4 "12627228|21527911|25359771" MGI:2655574 RGD:1564976 607649 124029 HGNC:21652 "ENST00000193322.8|NM_014028.4" HGNC:21652 +HGNC:43666 OSTM1-AS1 OSTM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 OSTM1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-26 2012-08-15 2012-10-12 100287366 ENSG00000225174 OTTHUMG00000015320 uc003psf.2 BC031282 NR_145458 OSTM1-AS1 HGNC:43666 +HGNC:29961 OSTN osteocrin protein-coding gene gene with protein product Approved 3q28 03q28 2004-01-22 2016-10-05 344901 ENSG00000188729 OTTHUMG00000156190 uc011bsn.2 AY398681 NM_198184 CCDS3299 P61366 14523025 MGI:2677164 RGD:1303110 610280 ligandId:5036 HGNC:29961 "ENST00000682035.1|NM_198184.2" +HGNC:41250 OSTN-AS1 OSTN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 OSTN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 106480738 ENSG00000233308 OTTHUMG00000156189 uc062rko.1 NR_133663 OSTN-AS1 HGNC:41250 +HGNC:8512 OTC ornithine transcarbamylase protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "OTCase|OTCD" ornithine transcarbamylase deficiency ornithine carbamoyltransferase 2001-06-22 2020-10-27 2021-04-13 5009 ENSG00000036473 OTTHUMG00000022727 uc004def.5 K02100 NM_000531 CCDS14247 P00480 MGI:97448 RGD:3236 "OTC - Ornithine transcarbamylase deficiency|http://www.LOVD.nl/OTC|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/OTC|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/OTC|LRG_846|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_846.xml" 300461 124033 2.1.3.3 HGNC:8512 "ENST00000039007.5|NM_000531.6" HGNC:8512 +HGNC:16378 OTOA otoancorin protein-coding gene gene with protein product Approved 16p12.2 16p12.2 CT108 cancer/testis antigen 108 DFNB22 deafness, autosomal recessive 22 2002-07-05 2002-07-05 2021-05-26 146183 ENSG00000155719 OTTHUMG00000090721 uc002djh.3 AK057335 NM_001161683 "CCDS53994|CCDS32403|CCDS10600" Q7RTW8 "11972037|19088187" MGI:2149209 RGD:1562741 607038 166800 HGNC:16378 "ENST00000646100.2|NM_144672.4" HGNC:16378 +HGNC:53869 OTOAP1 OTOA pseudogene 1 pseudogene pseudogene Approved 16p12.2 16p12.2 LOC653786 2018-05-01 2018-07-05 653786 ENSG00000257838 OTTHUMG00000170420 NR_003676 29552295 PGOHUM00000293742 HGNC:53869 +HGNC:8515 OTOF otoferlin protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FER1L2|DFNB6" fer-1-like family member 2 DFNB9 Ferlin family 828 1999-03-31 2021-05-26 9381 ENSG00000115155 OTTHUMG00000096977 uc002rhk.3 AF107403 NM_001287489 "CCDS1726|CCDS46241|CCDS74497|CCDS1724|CCDS1725" Q9HC10 "10192385|18381613" MGI:1891247 RGD:620646 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=OTOF" 603681 124035 HGNC:8515 "ENST00000272371.7|NM_194248.3" HGNC:8515 +HGNC:8516 OTOG otogelin protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "mlemp|OTGN|FLJ46346" 1998-05-05 2021-05-26 340990 ENSG00000188162 OTTHUMG00000149905 uc057znr.1 AK128214 NM_001277269 "CCDS76390|CCDS59225" Q6ZRI0 "9405633|10655058" MGI:1202064 RGD:1306610 604487 317554 HGNC:8516 "ENST00000399397.6|NM_001292063.2" HGNC:8516 +HGNC:26901 OTOGL otogelin like protein-coding gene gene with protein product Approved 12q21.31 12q21.31 FLJ90579 C12orf64 "chromosome 12 open reading frame 64|otogelin-like" 2007-02-02 2011-02-11 2016-03-10 2019-07-31 283310 ENSG00000165899 OTTHUMG00000150509 uc001szd.3 AK096852 NM_173591 Q3ZCN5 23122586 MGI:3647600 RGD:1589018 614925 317567 HGNC:26901 "ENST00000547103.7|NM_001378609.3" HGNC:26901 +HGNC:34071 OTOL1 otolin 1 protein-coding gene gene with protein product Approved 3q26.1 03q26.1 "C1QTNF15|C1QTNF16" C1q and TNF related 16 otolin 1 homolog (zebrafish) C1q and TNF related 1372 2010-08-18 2011-05-19 2019-08-20 131149 ENSG00000182447 OTTHUMG00000159074 uc011bpb.2 NM_001080440 CCDS46948 A6NHN0 "17544811|15905077" MGI:2685260 RGD:1562064 HGNC:34071 "ENST00000327928.4|NM_001080440.1" +HGNC:19656 OTOP1 otopetrin 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 2004-01-19 2016-10-05 133060 ENSG00000163982 OTTHUMG00000090301 uc003ghp.2 BK000653 NM_177998 CCDS3372 Q7RTM1 12651873 MGI:2388363 RGD:631389 607806 HGNC:19656 "ENST00000296358.5|NM_177998.3" +HGNC:19657 OTOP2 otopetrin 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 2004-01-19 2019-08-20 92736 ENSG00000183034 OTTHUMG00000179215 uc010wrp.2 BK000567 NM_178160 CCDS11708 Q7RTS6 12651873 MGI:2388365 RGD:1304830 607827 HGNC:19657 "ENST00000331427.9|NM_178160.3" +HGNC:19658 OTOP3 otopetrin 3 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 2004-01-19 2015-08-25 347741 ENSG00000182938 OTTHUMG00000179216 uc010wrr.4 BK000568 NM_178233 "CCDS11709|CCDS86637" Q7RTS5 12651873 MGI:1916852 RGD:1306663 607828 HGNC:19658 "ENST00000328801.6|NM_001272005.2" +HGNC:8517 OTOR otoraplin protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "MIAL|MIAL1|FDP" fibrocyte-derived protein MIA family 1300 2000-08-31 2018-04-26 56914 ENSG00000125879 OTTHUMG00000031931 uc002wpj.5 AF233261 NM_020157 CCDS13124 Q9NRC9 10873378 MGI:1888678 RGD:1305253 606067 HGNC:8517 "ENST00000246081.3|NM_020157.4" +HGNC:22644 OTOS otospiralin protein-coding gene gene with protein product Approved 2q37.3 02q37.3 OTOSP 2004-02-04 2014-11-19 150677 ENSG00000178602 OTTHUMG00000133351 uc061ugy.1 NM_148961 CCDS2533 Q8NHW6 12687421 MGI:2672814 RGD:708465 607877 HGNC:22644 "ENST00000319460.2|NM_148961.4" +HGNC:8518 OTP orthopedia homeobox protein-coding gene gene with protein product Approved 5q14.1 05q14.1 orthopedia homolog (Drosophila) PRD class homeoboxes and pseudogenes 521 1999-02-09 2007-02-15 2015-08-25 23440 ENSG00000171540 OTTHUMG00000102171 uc003kfg.4 NM_032109 CCDS4039 Q5XKR4 10458915 MGI:99835 RGD:727945 604529 8478 HGNC:8518 "ENST00000306422.5|NM_032109.3" +HGNC:23077 OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FLJ20113|FLJ40710" OTU domain, ubiquitin aldehyde binding 1 OTU domain containing 669 2003-12-12 2014-02-24 2019-08-20 55611 ENSG00000167770 OTTHUMG00000167786 uc001nyf.2 AY177200 NM_017670 CCDS8055 Q96FW1 "12704427|19383985" MGI:2147616 RGD:1311329 608337 C65.001 HGNC:23077 "ENST00000538426.6|NM_017670.3" +HGNC:20351 OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "FLJ21916|MGC3102" C14orf137 "chromosome 14 open reading frame 137|OTU domain, ubiquitin aldehyde binding 2" OTU domain containing 669 2003-01-28 2004-05-28 2014-02-24 2015-01-28 78990 ENSG00000089723 OTTHUMG00000171300 uc001yci.4 AF318378 NM_023112 CCDS9917 Q96DC9 "12704427|19996094" MGI:1915399 RGD:1306688 608338 C65.002 HGNC:20351 "ENST00000203664.10|NM_023112.4" +HGNC:27346 OTUD1 OTU deubiquitinase 1 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 DUBA7 OTDC1 OTU domain containing 1 OTU domain containing 669 2004-05-27 2014-02-24 2018-11-16 220213 ENSG00000165312 OTTHUMG00000017819 uc001irr.3 AK096389 NM_001145373 CCDS44366 Q5VV17 23827681 MGI:1918448 RGD:1563344 612022 C85.004 HGNC:27346 "ENST00000376495.5|NM_001145373.3" +HGNC:29038 OTUD3 OTU deubiquitinase 3 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "KIAA0459|DUBA4" OTU domain containing 3 OTU domain containing 669 2005-07-18 2014-02-24 2014-11-19 23252 ENSG00000169914 OTTHUMG00000002696 uc001bcs.5 AB007928 NM_015207 CCDS41279 Q5T2D3 "9455484|23827681" MGI:1920412 RGD:1560468 611758 HGNC:29038 "ENST00000375120.4|NM_015207.2" +HGNC:24949 OTUD4 OTU deubiquitinase 4 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "HSHIN1|KIAA1046|DUBA6" OTU domain containing 4 OTU domain containing 669 2005-09-28 2014-02-24 2015-08-25 54726 ENSG00000164164 OTTHUMG00000161480 uc062zzb.1 NM_017493 "CCDS47139|CCDS3764" Q01804 "1475186|12727813|19996094" MGI:1098801 RGD:1305606 611744 470818 HGNC:24949 "ENST00000447906.8|NM_001366057.1" +HGNC:33912 OTUD4P1 OTUD4 pseudogene 1 pseudogene pseudogene Approved 12p13.32 12p13.32 HIN1L 2014-02-24 2014-11-19 360227 ENSG00000118976 OTTHUMG00000168119 NG_005318 PGOHUM00000258652 HGNC:33912 +HGNC:25402 OTUD5 OTU deubiquitinase 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "DKFZp761A052|DUBA" OTU domain containing 5 OTU domain containing 669 2005-09-28 2014-02-24 2015-08-25 55593 ENSG00000068308 OTTHUMG00000024130 uc004dlu.4 NM_017602 "CCDS48105|CCDS14313|CCDS48104" Q96G74 24143256 MGI:1859615 RGD:1563027 300713 C85.001 HGNC:25402 "ENST00000376488.8|NM_001136157.2" HGNC:25402 +HGNC:32312 OTUD6A OTU deubiquitinase 6A protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "FLJ25831|HSHIN6|DUBA2" OTU domain containing 6A OTU domain containing 669 2005-09-28 2014-02-24 2019-08-20 139562 ENSG00000189401 OTTHUMG00000159996 uc004dxu.1 AK098697 NM_207320 CCDS14395 Q7L8S5 23827681 MGI:3644685 RGD:1560855 300714 HGNC:32312 "ENST00000338352.3|NM_207320.3" +HGNC:24281 OTUD6B OTU deubiquitinase 6B protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "CGI-77|DUBA5" OTU domain containing 6B OTU domain containing 669 2005-09-28 2019-07-31 2021-05-26 51633 ENSG00000155100 OTTHUMG00000150758 uc003yeu.4 NM_016023 CCDS69513 Q8N6M0 27864334 MGI:1919451 RGD:1310024 612021 HGNC:24281 "ENST00000404789.8|NM_016023.5" HGNC:24281 +HGNC:50466 OTUD6B-AS1 OTUD6B antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 8q21.3 08q21.3 GS1-251I9.4 Antisense RNAs 1987 2014-04-30 2019-07-12 100506365 ENSG00000253738 OTTHUMG00000164022 NR_110438 31156645 OTUD6B-AS1 HGNC:50466 +HGNC:20718 OTUD7A OTU deubiquitinase 7A protein-coding gene gene with protein product Approved 15q13.3 15q13.3 CEZANNE2 "C15orf16|OTUD7" "chromosome 15 open reading frame 16|OTU domain containing 7|OTU domain containing 7A" OTU domain containing 669 2003-05-12 2006-07-07 2014-02-24 2021-05-26 161725 ENSG00000169918 OTTHUMG00000129275 uc001zfq.4 AJ430383 NM_130901 CCDS10026 Q8TE49 23827681 MGI:2158505 RGD:1563721 612024 C64.002 HGNC:20718 "ENST00000307050.6|NM_001382637.1" +HGNC:16683 OTUD7B OTU deubiquitinase 7B protein-coding gene gene with protein product Approved 1q21.2 01q21.2 CEZANNE ZA20D1 "zinc finger, A20 domain containing 1|OTU domain containing 7B" OTU domain containing 669 2003-05-12 2006-07-07 2014-02-24 2015-09-03 56957 ENSG00000264522 OTTHUMG00000012291 uc001etn.5 AJ293573 NM_020205 CCDS72903 Q6GQQ9 "11463333|23827681" MGI:2654703 RGD:1308111 611748 C64.001 HGNC:16683 "ENST00000581312.6|NM_020205.4" +HGNC:25118 OTULIN OTU deubiquitinase with linear linkage specificity protein-coding gene gene with protein product Approved 5p15.2 05p15.2 FLJ34884 "gumby|ubiquitin thioesterase otulin" FAM105B family with sequence similarity 105, member B OTU domain containing 669 2005-12-22 2014-03-11 2014-03-11 2021-05-26 90268 ENSG00000154124 OTTHUMG00000161762 NM_138348 CCDS43302 Q96BN8 "23708998|23746843" MGI:3577015 RGD:2324500 615712 C101.001 objectId:2910 HGNC:25118 "ENST00000284274.5|NM_138348.6" HGNC:25118 +HGNC:55368 OTULIN-DT OTULIN divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 Divergent transcripts 1990 2020-11-11 2020-11-11 728178 ENSG00000261360 NR_168439 +HGNC:25629 OTULINL OTU deubiquitinase with linear linkage specificity like protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "FLJ11127|NET20" FAM105A "family with sequence similarity 105, member A|family with sequence similarity 105 member A" OTU domain containing 669 2005-12-22 2018-03-15 2018-03-15 2018-03-15 54491 ENSG00000145569 OTTHUMG00000131056 uc003jfj.4 NM_019018 CCDS3884 Q9NUU6 12477932 MGI:2687281 RGD:1563205 HGNC:25629 "ENST00000274217.4|NM_019018.3" +HGNC:8521 OTX1 orthodenticle homeobox 1 protein-coding gene gene with protein product Approved 2p15 02p15 "orthodenticle (Drosophila) homolog 1|orthodenticle homolog 1 (Drosophila)" PRD class homeoboxes and pseudogenes 521 1994-02-08 2007-02-15 2015-08-25 5013 ENSG00000115507 OTTHUMG00000129454 uc021vim.2 NM_001199770 CCDS1873 P32242 7959790 MGI:97450 RGD:3237 600036 8479 HGNC:8521 "ENST00000282549.7|NM_014562.4" +HGNC:8522 OTX2 orthodenticle homeobox 2 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 orthodenticle homolog 2 (Drosophila) PRD class homeoboxes and pseudogenes 521 1994-02-08 2007-02-15 2021-05-26 5015 ENSG00000165588 OTTHUMG00000152338 uc010aou.5 AF298117 NM_021728. "CCDS9728|CCDS41960" P32243 7959790 MGI:97451 RGD:1305705 "LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=OTX2|LRG_718|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_718.xml" 600037 8480 124040 HGNC:8522 "ENST00000672264.2|NM_021728.4" HGNC:8522 +HGNC:43906 OTX2-AS1 OTX2 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 14q22.3 14q22.3 OTX2OS1 "OTX2 antisense RNA 1 (non-protein coding)|OTX2 antisense RNA 1" Antisense RNAs 1987 2012-05-01 2012-10-17 2018-09-07 100309464 ENSG00000248550 OTTHUMG00000171304 uc001xcr.5 BC041486 NR_029385 15703187 MGI:3583292 Otx2os1 OTX2-AS1 HGNC:43906 +HGNC:33281 OTX2P1 OTX2 pseudogene 1 pseudogene pseudogene Approved 9q21.13 09q21.13 OTX2P "orthodenticle homeobox 2 pseudogene|orthodenticle homeobox 2 pseudogene 1" PRD class homeoboxes and pseudogenes 521 2007-02-15 2007-07-27 2019-10-16 2019-10-16 100033409 ENSG00000234644 OTTHUMG00000020037 NG_032194 8593 PGOHUM00000303938 HGNC:33281 +HGNC:54560 OTX2P2 OTX2 pseudogene 2 pseudogene pseudogene Approved 2q22.3 02q22.3 orthodenticle homeobox 2 pseudogene 2 2019-10-16 2019-10-16 2019-10-16 100419816 ENSG00000227134 NG_023739 +HGNC:49422 OVAAL ovarian adenocarcinoma amplified long non-coding RNA non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 "LINC01131|OVAL|RMEL2" "long intergenic non-protein coding RNA 1131|ovarian adenocarcinoma amplified lncRNA|restricted expression in melanoma 2" Long non-coding RNAs with non-systematic symbols 1992 2013-11-19 2021-11-11 148756 ENSG00000236719 OTTHUMG00000035112 BC036830 NR_125716 "24265805|20975957" OVAAL HGNC:49422 +HGNC:24203 OVCA2 OVCA2 serine hydrolase domain containing protein-coding gene gene with protein product Approved 17p13.3 17p13.3 candidate tumor suppressor in ovarian cancer 2 ovarian tumor suppressor candidate 2 2009-08-13 2019-01-22 2019-01-22 124641 ENSG00000262664 OTTHUMG00000132471 uc002ftx.4 AF321875 NM_080822 CCDS11015 Q8WZ82 "11979432|8616839|16368187|14645503" MGI:2179725 RGD:1564623 607896 3.1.2.- HGNC:24203 "ENST00000572195.3|NM_080822.3" +HGNC:23080 OVCH1 ovochymase 1 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 OVCH 2003-09-03 2016-10-05 341350 ENSG00000187950 OTTHUMG00000167741 uc001rix.2 BN000128 NM_183378 Q7RTY7 12838346 XS01-005 HGNC:23080 +HGNC:44484 OVCH1-AS1 OVCH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p11.22 12p11.22 Antisense RNAs 1987 2013-05-30 2016-09-26 101055625 ENSG00000257599 OTTHUMG00000169323 NR_073170 OVCH1-AS1 HGNC:44484 +HGNC:29970 OVCH2 ovochymase 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 OVTN ovochymase 2 (gene/pseudogene) 2005-02-24 2020-05-01 2020-05-01 341277 ENSG00000183378 OTTHUMG00000165418 uc031xev.2 BN000120 NM_198185 CCDS73251 Q7RTZ1 12838346 MGI:3045251 RGD:1564636 618962 S01.320 HGNC:29970 "ENST00000533663.6|NM_198185.7" +HGNC:8524 OVGP1 oviductal glycoprotein 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 CHIT5 oviductin MUC9 "mucin 9|oviductal glycoprotein 1, 120kDa" "Mucins|Chitinases" "648|816" 1996-06-12 2015-11-09 2015-11-09 5016 ENSG00000085465 OTTHUMG00000011746 uc001eba.4 U09550 NM_002557 CCDS834 Q12889 "7819450|9341614" MGI:106661 603578 HGNC:8524 "ENST00000369732.4|NM_002557.4" +HGNC:8525 OVOL1 ovo like transcriptional repressor 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 HOVO1 "ovo (Drosophila) homolog-like 1|ovo-like 1(Drosophila)|ovo like zinc finger 1" "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 1997-07-11 2016-05-04 2016-10-05 5017 ENSG00000172818 OTTHUMG00000166600 uc001ofp.4 BC059408 NM_004561 CCDS8112 O14753 9383297 MGI:1330290 RGD:1306956 602313 470820 HGNC:8525 "ENST00000335987.8|NM_004561.4" +HGNC:49319 OVOL1-AS1 OVOL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Antisense RNAs 1987 2013-10-17 2013-10-17 101927828 ENSG00000255120 OTTHUMG00000166597 AI458914 NR_108085 OVOL1-AS1 HGNC:49319 +HGNC:15804 OVOL2 ovo like zinc finger 2 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "bA504H3.3|HOVO2|CHED" "ZNF339|CHED1" "zinc finger protein 339|ovo-like 2 (Drosophila)|corneal endothelial dystrophy 1 (autosomal dominant)" Zinc fingers C2H2-type 28 2001-09-17 2005-05-31 2016-01-18 2017-01-23 58495 ENSG00000125850 OTTHUMG00000031960 uc002wqi.1 AK022284 NM_021220 CCDS13132 Q9BRP0 MGI:1338039 RGD:1306130 616441 453713 HGNC:15804 "ENST00000278780.7|NM_021220.4" HGNC:15804 +HGNC:14186 OVOL3 ovo like zinc finger 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 HOVO3 ovo-like 3 (Drosophila) Zinc fingers C2H2-type 28 2011-12-02 2016-01-18 2020-04-20 728361 ENSG00000105261 OTTHUMG00000181748 uc031rkj.3 NM_001302757 CCDS82333 O00110 MGI:2388075 RGD:1583800 616442 HGNC:14186 "ENST00000633214.2|NM_001302757.2" +HGNC:8526 OXA1L OXA1L mitochondrial inner membrane protein protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "MGC133129|OXA1" "oxidase (cytochrome c) assembly 1-like|OXA1L, mitochondrial inner membrane protein" Mitochondrial respiratory chain complex assembly factors 645 1995-09-20 2019-01-25 2019-01-25 5018 ENSG00000155463 OTTHUMG00000028691 uc058zij.1 NM_005015 CCDS9573 Q15070 "8586451|19349278" MGI:1916339 RGD:1585024 601066 HGNC:8526 "ENST00000612549.6|NM_005015.5" +HGNC:55448 OXA1L-DT OXA1L divergent transcript non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Divergent transcripts 1990 2021-01-15 2021-01-15 105370404 ENSG00000258458 XR_001750638 +HGNC:8527 OXCT1 3-oxoacid CoA-transferase 1 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 SCOT Succinyl-CoA:3-ketoacid-CoA transferase OXCT "3-oxoacid CoA transferase|3-oxoacid CoA transferase 1" 1997-12-05 2004-05-12 2015-11-11 2021-05-26 5019 ENSG00000083720 OTTHUMG00000094783 uc003jmn.4 U62961 NM_000436 CCDS3937 P55809 8751852 MGI:1914291 RGD:1584008 601424 124042 2.8.3.5 HGNC:8527 "ENST00000196371.10|NM_000436.4" HGNC:8527 +HGNC:40423 OXCT1-AS1 OXCT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.1 05p13.1 SARRAH SCOT1-antisense RNA regulated during aging in the heart OXCT1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-01 2012-08-15 2020-08-05 100874002 ENSG00000248668 OTTHUMG00000162087 uc032usd.2 "DB470733|DB476656" NR_046635 "30609030|32341350" MGI:3040924 OXCT1-AS1 HGNC:40423 +HGNC:18606 OXCT2 3-oxoacid CoA-transferase 2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FKSG25|FLJ00030|SCOT-T" 2002-05-02 2015-11-11 2016-10-05 64064 ENSG00000198754 OTTHUMG00000009249 uc001ceb.2 AB050193 NM_022120 CCDS445 Q9BYC2 "11214971|11756565" "MGI:1891061|MGI:2664115" RGD:1306953 610289 2.8.3.5 HGNC:18606 "ENST00000327582.5|NM_022120.2" +HGNC:21627 OXCT2P1 3-oxoacid CoA-transferase 2 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 OXCT2P 3-oxoacid CoA transferase 2 pseudogene 2003-07-14 2010-03-04 2015-11-11 2016-10-05 192217 ENSG00000237624 OTTHUMG00000009250 NG_001331 PGOHUM00000244680 HGNC:21627 +HGNC:24884 OXER1 oxoeicosanoid receptor 1 protein-coding gene gene with protein product Approved 2p21 02p21 "GPCR|TG1019|GPR170" "5-oxo-ETE acid G-protein-coupled receptor 1|OXE receptor" Leukotriene receptors 204 2004-04-02 2016-05-26 2016-10-05 165140 ENSG00000162881 OTTHUMG00000128643 uc002rss.4 AB083055 NM_148962 CCDS1810 Q8TDS5 "12065583|15001665" objectId:271 HGNC:24884 +HGNC:4531 OXGR1 oxoglutarate receptor 1 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "P2RY15|P2Y15|aKGR" "2-oxoglutarate receptor 1|alpha-ketoglutarate receptor 1" "GPR99|GPR80" "G protein-coupled receptor 80|oxoglutarate (alpha-ketoglutarate) receptor 1" Oxoglutarate receptor 935 2000-01-20 2004-07-09 2016-02-01 2016-10-05 27199 ENSG00000165621 OTTHUMG00000017236 uc001vmx.1 AF411109 NM_080818 CCDS9482 Q96P68 "15141213|12098360" MGI:2685145 RGD:1303155 606922 objectId:162 HGNC:4531 "ENST00000541038.2|NM_001346194.2" +HGNC:27901 OXLD1 oxidoreductase like domain containing 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 MGC104712 C17orf90 "chromosome 17 open reading frame 90|oxidoreductase-like domain containing 1" 2007-11-19 2012-07-20 2016-04-01 2016-04-01 339229 ENSG00000204237 OTTHUMG00000178063 uc002kba.3 NM_001039842 "CCDS32766|CCDS77132" Q5BKU9 MGI:1913681 RGD:1590060 HGNC:27901 "ENST00000374741.4|NM_001039842.3" +HGNC:25128 OXNAD1 oxidoreductase NAD binding domain containing 1 protein-coding gene gene with protein product Approved 3p25.1-p24.3 03p25.1-p24.3 MGC15763 oxidoreductase NAD-binding domain containing 1 2005-12-22 2016-04-04 2019-02-26 92106 ENSG00000154814 OTTHUMG00000129867 uc003cax.4 AL832787 NM_138381 "CCDS2630|CCDS87053" Q96HP4 26416425 MGI:1916953 RGD:1311534 HGNC:25128 "ENST00000285083.10|NM_138381.5" +HGNC:15822 OXR1 oxidation resistance 1 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 TLDC3 TBC/LysM-associated domain containing 3 TLDc domain containing 2055 2001-06-14 2021-04-29 55074 ENSG00000164830 OTTHUMG00000167682 uc011lhu.3 AF309387 NM_181354 "CCDS56548|CCDS56550|CCDS56547|CCDS56549|CCDS6304|CCDS47909" Q8N573 11114193 MGI:2179326 RGD:621857 605609 HGNC:15822 "ENST00000517566.7|NM_001198533.2" HGNC:15822 +HGNC:55533 OXR1-AS1 OXR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q23.1 08q23.1 Antisense RNAs 1987 2021-03-24 2021-03-24 105375700 ENSG00000253582 XR_007061051 +HGNC:26063 OXSM 3-oxoacyl-ACP synthase, mitochondrial protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "KS|FLJ20604|FASN2D|CEM1" beta-ketoacyl synthase 2005-12-21 2019-02-26 54995 ENSG00000151093 OTTHUMG00000130477 uc003cdn.4 BC008202 NM_017897 "CCDS2643|CCDS46780" Q9NWU1 15668256 MGI:1918397 RGD:1311092 610324 2.3.1.41 HGNC:26063 "ENST00000280701.8|NM_017897.3" +HGNC:8508 OXSR1 oxidative stress responsive kinase 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 KIAA1101 OSR1 oxidative-stress responsive 1 1999-05-06 2004-11-26 2018-10-15 2018-10-15 9943 ENSG00000172939 OTTHUMG00000131084 uc003chy.4 AB017642 NM_005109 CCDS2675 O95747 10083736 MGI:1917378 RGD:1310466 604046 objectId:2132 HGNC:8508 "ENST00000311806.8|NM_005109.3" +HGNC:8528 OXT oxytocin/neurophysin I prepropeptide protein-coding gene gene with protein product Approved 20p13 20p13 "OXT-NPI|OT-NPI" "oxytocin|neurophysin I" OT "oxytocin, prepro- (neurophysin I)|oxytocin, prepropeptide" Neuropeptides 1902 1986-01-01 2012-10-23 2015-09-03 5020 ENSG00000101405 OTTHUMG00000031724 uc002wht.2 NM_000915 CCDS13044 P01178 MGI:97453 RGD:3238 167050 ligandId:2174 HGNC:8528 "ENST00000217386.2|NM_000915.4" +HGNC:8529 OXTR oxytocin receptor protein-coding gene gene with protein product Approved 3p25.3 03p25.3 OTR Arginine vasopressin and oxytocin receptors 259 1992-10-16 2021-05-20 5021 ENSG00000180914 OTTHUMG00000090537 uc003brc.4 NM_000916 CCDS2570 P30559 1313946 MGI:109147 RGD:3239 167055 470822 objectId:369 HGNC:8529 "ENST00000316793.8|NM_000916.4" +HGNC:8533 P2RX1 purinergic receptor P2X 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 P2X1 purinergic receptor P2X, ligand-gated ion channel, 1 Purinergic receptors P2X 214 1997-01-16 2016-02-05 2019-08-21 5023 ENSG00000108405 OTTHUMG00000177673 uc002fww.4 X83688 NM_002558 CCDS11040 P51575 8834001 MGI:1098235 RGD:3240 600845 470824 objectId:478 HGNC:8533 "ENST00000225538.4|NM_002558.4" +HGNC:15459 P2RX2 purinergic receptor P2X 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 P2X2 DFNA41 "deafness, autosomal dominant 41|purinergic receptor P2X, ligand-gated ion channel, 2" Purinergic receptors P2X 214 2001-03-30 2016-02-05 2016-02-05 22953 ENSG00000187848 OTTHUMG00000168018 uc001uki.3 AF109387 NM_001282164 "CCDS31930|CCDS31931|CCDS31932|CCDS31933|CCDS31934|CCDS31935|CCDS61286|CCDS73548" Q9UBL9 "10570044|7523952|23345450" MGI:2665170 RGD:620251 600844 330683 objectId:479 HGNC:15459 "ENST00000643471.2|NM_170682.4" HGNC:15459 +HGNC:8534 P2RX3 purinergic receptor P2X 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 P2X3 purinergic receptor P2X, ligand-gated ion channel, 3 Purinergic receptors P2X 214 1997-10-09 2016-02-05 2016-10-05 5024 ENSG00000109991 OTTHUMG00000167025 uc001nju.4 Y07683 NM_002559 CCDS7953 P56373 9221902 MGI:1097160 RGD:620253 600843 objectId:480 HGNC:8534 "ENST00000263314.3|NM_002559.5" +HGNC:8535 P2RX4 purinergic receptor P2X 4 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 P2X4 purinergic receptor P2X, ligand-gated ion channel, 4 Purinergic receptors P2X 214 1997-10-09 2016-02-05 2016-10-05 5025 ENSG00000135124 OTTHUMG00000169155 uc001tzr.4 Y07684 NM_175567 "CCDS58282|CCDS9214" Q99571 9016352 MGI:1338859 RGD:62073 600846 objectId:481 HGNC:8535 "ENST00000337233.9|NM_002560.3" +HGNC:8536 P2RX5 purinergic receptor P2X 5 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "P2X5|LRH-1" purinergic receptor P2X, ligand-gated ion channel, 5 "Purinergic receptors P2X|Minor histocompatibility antigens" "214|870" 1998-05-14 2016-02-05 2016-10-05 5026 ENSG00000083454 OTTHUMG00000090700 uc002fwi.4 AF016709 "NM_002561|NM_175080|NM_175081" "CCDS56015|CCDS56014|CCDS11035|CCDS11034" Q93086 9414125 MGI:2137026 RGD:620256 602836 objectId:482 HGNC:8536 "ENST00000225328.10|NM_002561.4" +HGNC:49191 P2RX5-TAX1BP3 P2RX5-TAX1BP3 readthrough (NMD candidate) other readthrough Approved 17p13.2 17p13.2 2013-09-25 2013-09-25 100533970 ENSG00000257950 OTTHUMG00000169623 NR_037928 HGNC:49191 +HGNC:8538 P2RX6 purinergic receptor P2X 6 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "P2XM|MGC129625|P2X6" P2RXL1 "purinergic receptor P2X-like 1, orphan receptor|purinergic receptor P2X, ligand-gated ion channel, 6" Purinergic receptors P2X 214 1999-02-24 2008-03-28 2016-02-05 2016-02-05 9127 ENSG00000099957 OTTHUMG00000150689 uc010gsu.2 NM_005446 "CCDS54504|CCDS13788" O15547 "9242461|10591208|8786426" MGI:1337113 RGD:3243 608077 objectId:483 HGNC:8538 "ENST00000413302.7|NM_005446.5" +HGNC:34076 P2RX6P purinergic receptor P2X 6 pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 purinergic receptor P2X, ligand-gated ion channel, 6 pseudogene 2008-04-16 2016-02-05 2016-02-05 440799 ENSG00000206145 OTTHUMG00000150898 NR_002829 HGNC:34076 +HGNC:8537 P2RX7 purinergic receptor P2X 7 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "P2X7|MGC20089" purinergic receptor P2X, ligand-gated ion channel, 7 Purinergic receptors P2X 214 1997-10-09 2016-02-05 2016-10-05 5027 ENSG00000089041 OTTHUMG00000169153 uc001tzm.4 Y09561 NM_002562 CCDS9213 Q99572 "9038151|9826911" MGI:1339957 RGD:3241 602566 476274 objectId:484 HGNC:8537 "ENST00000328963.10|NM_002562.6" +HGNC:8539 P2RY1 purinergic receptor P2Y1 protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "P2Y1|SARCC" suppressing androgen receptor in renal cell carcinoma purinergic receptor P2Y, G-protein coupled, 1 P2Y receptors 213 1995-10-20 2016-02-05 2021-04-13 5028 ENSG00000169860 OTTHUMG00000159694 uc003ezq.4 U42029 NM_002563 CCDS3169 P47900 8579591 MGI:105049 RGD:3242 LRG_635|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_635.xml 601167 objectId:323 HGNC:8539 "ENST00000305097.6|NM_002563.5" +HGNC:8541 P2RY2 purinergic receptor P2Y2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 P2U purinergic receptor P2Y, G-protein coupled, 2 P2Y receptors 213 1995-10-20 2016-02-05 2016-02-05 5029 ENSG00000175591 OTTHUMG00000167966 uc001otk.5 U07225 NM_176072 CCDS8219 P41231 "8159738|9286708" MGI:105107 RGD:62088 600041 objectId:324 HGNC:8541 "ENST00000393597.7|NM_002564.4" +HGNC:8542 P2RY4 pyrimidinergic receptor P2Y4 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "NRU|P2Y4|UNR|P2P" pyrimidinergic receptor P2Y, G-protein coupled, 4 P2Y receptors 213 1997-01-14 2016-02-05 2020-04-02 5030 ENSG00000186912 OTTHUMG00000021769 uc004dxz.2 X91852 NM_002565 CCDS14398 P51582 8537336 MGI:1926594 RGD:61798 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/P2RY4 300038 objectId:325 HGNC:8542 "ENST00000374519.4|NM_002565.4" +HGNC:8543 P2RY6 pyrimidinergic receptor P2Y6 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 P2Y6 pyrimidinergic receptor P2Y, G-protein coupled, 6 P2Y receptors 213 1997-01-16 2016-02-05 2016-02-05 5031 ENSG00000171631 OTTHUMG00000167969 uc031qcn.2 NM_001277204 CCDS8220 Q15077 8670200 MGI:2673874 RGD:620269 602451 objectId:326 HGNC:8543 "ENST00000540124.6|NM_001277204.2" +HGNC:15524 P2RY8 P2Y receptor family member 8 protein-coding gene gene with protein product Approved Xp22.33 and Yp11.3 Xp22.33 and Yp11.3 P2Y8 "purinergic receptor P2Y, G-protein coupled, 8|purinergic receptor P2Y8" "G protein-coupled receptors, Class A orphans|Pseudoautosomal region 1" "262|715" 2001-06-25 2017-09-27 2020-04-02 286530 ENSG00000182162 OTTHUMG00000021060 uc004fpm.3 AA804531 NM_178129 CCDS14115 Q86VZ1 11004484 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/P2RY8 P2RY8 300525 objectId:164 HGNC:15524 "ENST00000381297.10|NM_178129.5" +HGNC:19906 P2RY10 P2Y receptor family member 10 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 P2Y10 "purinergic receptor P2Y, G-protein coupled, 10|purinergic receptor P2Y10" G protein-coupled receptors, Class A orphans 262 2003-01-28 2017-09-27 2020-04-02 27334 ENSG00000078589 OTTHUMG00000021896 uc004edf.4 AF000545 NM_001324218 CCDS14442 O00398 "11004484|9755289" MGI:1926076 RGD:1561912 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/P2RY10 300529 objectId:165 HGNC:19906 "ENST00000171757.3|NM_014499.4" +HGNC:32924 P2RY10BP P2Y receptor family member 10B, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 P2RY10P2 purinergic receptor P2Y10 pseudogene 2 2006-05-26 2017-09-27 2017-09-27 2017-09-27 449518 ENSG00000232168 OTTHUMG00000021897 NG_004704 PGOHUM00000305168 HGNC:32924 +HGNC:8540 P2RY11 purinergic receptor P2Y11 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 P2Y11 purinergic receptor P2Y, G-protein coupled, 11 P2Y receptors 213 1998-07-20 2016-02-05 2016-02-05 5032 ENSG00000244165 OTTHUMG00000150166 uc002mnc.4 AF030335 NM_002566 CCDS12226 Q96G91 9405388 RGD:7666983 602697 371321 objectId:327 HGNC:8540 "ENST00000321826.5|NM_002566.5" +HGNC:18124 P2RY12 purinergic receptor P2Y12 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "P2Y12|SP1999|HORK3" purinergic receptor P2Y, G-protein coupled, 12 P2Y receptors 213 2002-12-10 2016-02-05 2021-04-13 64805 ENSG00000169313 OTTHUMG00000159863 uc003eyx.3 AJ320495 NM_022788 CCDS3159 Q9H244 "11502873|11104774" MGI:1918089 RGD:621681 LRG_569|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_569.xml 600515 124046 objectId:328 HGNC:18124 "ENST00000302632.4|NM_022788.5" HGNC:18124 +HGNC:4537 P2RY13 purinergic receptor P2Y13 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "FKSG77|P2Y13" "GPR94|GPR86" "G protein-coupled receptor 86|purinergic receptor P2Y, G-protein coupled, 13" P2Y receptors 213 2000-05-23 2004-07-14 2016-02-05 2016-10-05 53829 ENSG00000181631 OTTHUMG00000155745 uc003eyv.3 AF295368 NM_023914 CCDS3158 Q9BPV8 "11273702|11574155" MGI:1921441 RGD:1302941 606380 objectId:329 HGNC:4537 "ENST00000325602.6|NM_176894.3" +HGNC:16442 P2RY14 purinergic receptor P2Y14 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 KIAA0001 GPR105 "G protein-coupled receptor 105|purinergic receptor P2Y, G-protein coupled, 14" P2Y receptors 213 2001-09-27 2004-07-14 2016-02-05 2016-10-05 9934 ENSG00000174944 OTTHUMG00000159859 uc003eys.2 D13626 NM_014879 CCDS3156 Q15391 MGI:2155705 RGD:70912 610116 objectId:330 HGNC:16442 "ENST00000309170.8|NM_014879.4" +HGNC:19316 P3H1 prolyl 3-hydroxylase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "GROS1|LEPRECAN|MGC117314" "growth suppressor 1|procollagen-proline 3-dioxygenase" LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 Prolyl 3-hydroxylase family 1925 2002-10-03 2014-12-12 2014-12-12 2021-05-26 64175 ENSG00000117385 OTTHUMG00000007525 AK027648 NM_022356 "CCDS472|CCDS57986|CCDS53307" Q32P28 10951563 MGI:1888921 RGD:628823 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=LEPRE1|LRG_5|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_5.xml" 610339 138843 1.14.11.7 HGNC:19316 "ENST00000296388.10|NM_022356.4" HGNC:19316 +HGNC:19317 P3H2 prolyl 3-hydroxylase 2 protein-coding gene gene with protein product Approved 3q28 03q28 "FLJ10718|MLAT4" procollagen-proline 3-dioxygenase 2 LEPREL1 leprecan-like 1 Prolyl 3-hydroxylase family 1925 2004-05-12 2014-12-12 2014-12-12 2021-05-26 55214 ENSG00000090530 OTTHUMG00000156312 NM_018192 "CCDS3294|CCDS46981" Q8IVL5 "15063763|21885030" MGI:2146663 RGD:1304568 610341 289488 1.14.11.7 HGNC:19317 "ENST00000319332.10|NM_018192.4" HGNC:19317 +HGNC:40886 P3H2-AS1 P3H2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 LEPREL1-AS1 LEPREL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2014-12-12 2014-12-12 2021-08-12 101929152 ENSG00000225764 OTTHUMG00000156311 NR_126419 P3H2-AS1 HGNC:40886 +HGNC:19318 P3H3 prolyl 3-hydroxylase 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "GRCB|HSU47926" procollagen-proline 3-dioxygenase LEPREL2 leprecan-like 2 Prolyl 3-hydroxylase family 1925 2004-05-12 2014-12-12 2014-12-12 2015-12-04 10536 ENSG00000110811 OTTHUMG00000168516 U47926 NM_014262 CCDS61027 Q8IVL6 15063763 MGI:1315208 RGD:1305699 610342 1.14.11.7 HGNC:19318 "ENST00000290510.10|NM_014262.5" +HGNC:16946 P3H4 prolyl 3-hydroxylase family member 4 (inactive) protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "SC65|NO55" synaptonemal complex 65 LEPREL4 "nucleolar autoantigen (55kD)|rat synaptonemal complex protein|leprecan-like 4|prolyl 3-hydroxylase family member 4 (non-enzymatic)" Prolyl 3-hydroxylase family 1925 2010-09-01 2014-12-15 2019-07-03 2019-07-03 10609 ENSG00000141696 OTTHUMG00000133501 BC001047 NM_006455 CCDS11408 Q92791 "8862517|23959653|28115524" MGI:1913430 RGD:620767 617419 HGNC:16946 "ENST00000393928.6|NM_006455.3" +HGNC:53451 P3R3URF PIK3R3 upstream open reading frame protein-coding gene gene with protein product Approved 1p34.1 01p34.1 PIK3R3 upstream reading frame 2018-11-23 2021-03-11 2021-03-11 110117498 ENSG00000250719 OTTHUMG00000007603 NM_001328655 CCDS85970 A0A087WWA1 MGI:1914573 RGD:6491750 HGNC:53451 "ENST00000506599.2|NM_001328655.2" +HGNC:54999 P3R3URF-PIK3R3 P3R3URF-PIK3R3 readthrough other readthrough Approved 1p34.1 01p34.1 2020-05-19 2020-05-19 110117499 ENSG00000278139 NM_001303427 +HGNC:8546 P4HA1 prolyl 4-hydroxylase subunit alpha 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 C-P4Halpha(I) collagen prolyl 4-hydroxylase alpha(I) P4HA "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I|prolyl 4-hydroxylase, alpha polypeptide I" 1999-02-23 2016-01-27 2016-01-27 5033 ENSG00000122884 OTTHUMG00000018449 uc057tzf.1 NM_000917 "CCDS7320|CCDS44432|CCDS41537" P13674 2556027 MGI:97463 RGD:621000 176710 1.14.11.2 HGNC:8546 "ENST00000394890.7|NM_001017962.3" +HGNC:8547 P4HA2 prolyl 4-hydroxylase subunit alpha 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "C-P4Halpha(II)|lncRNA-PE" "4-PH alpha 2|collagen prolyl 4-hydroxylase alpha(II)|lncRNA promotes epithelial-mesenchymal transition" "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II|prolyl 4-hydroxylase, alpha polypeptide II" MicroRNA protein coding host genes 1691 1999-02-23 2016-01-27 2021-11-24 8974 ENSG00000072682 OTTHUMG00000059647 uc063gtw.1 U90441 NM_004199 "CCDS4151|CCDS34230" O15460 "9211872|9149945" MGI:894286 RGD:1309673 600608 1.14.11.2 HGNC:8547 "ENST00000360568.8|NM_001017974.2" HGNC:8547 +HGNC:43560 P4HA2-AS1 P4HA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 P4HA2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-07 2012-08-15 2012-10-12 100861518 ENSG00000237714 OTTHUMG00000059643 uc032vkt.2 BG772701 NR_047470 P4HA2-AS1 HGNC:43560 +HGNC:30135 P4HA3 prolyl 4-hydroxylase subunit alpha 3 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 C-P4Halpha(III) collagen prolyl 4-hydroxylase alpha(III) "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III|prolyl 4-hydroxylase, alpha polypeptide III" 2004-05-12 2016-01-27 2016-01-27 283208 ENSG00000149380 OTTHUMG00000165254 uc001ouz.5 AY327887 NM_182904 "CCDS73347|CCDS8230" Q7Z4N8 14500733 MGI:2444049 RGD:735150 608987 HGNC:30135 "ENST00000331597.9|NM_182904.5" +HGNC:53160 P4HA3-AS1 P4HA3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2017-03-03 2017-03-03 101928580 ENSG00000246211 OTTHUMG00000168131 BC048427 NR_120556 28235564 HGNC:53160 +HGNC:8548 P4HB prolyl 4-hydroxylase subunit beta protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "PDIA1|PROHB|DSI|GIT|PDI|PO4HB|P4Hbeta" "protein disulfide isomerase-associated 1|protein disulfide isomerase family A, member 1|collagen prolyl 4-hydroxylase beta" "PO4DB|ERBA2L" "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide|prolyl 4-hydroxylase, beta polypeptide" Protein disulfide isomerases 692 1986-01-01 2016-01-27 2016-10-05 5034 ENSG00000185624 OTTHUMG00000150269 uc002kbn.2 J02783 NM_000918 CCDS11787 P07237 8111381 MGI:97464 RGD:3244 176790 426000 "1.14.11.2|5.3.4.1" HGNC:8548 "ENST00000331483.9|NM_000918.4" HGNC:8548 +HGNC:28858 P4HTM prolyl 4-hydroxylase, transmembrane protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "P4H-TM|PHD4|PH4|HIFPH4|FLJ20262|EGLN4|PH-4" "Prolyl hydroxlase domain-containing 4|hypoxia inducible factor prolyl 4 hydroxylase" prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 2008-12-08 2016-05-03 2016-05-03 54681 ENSG00000178467 OTTHUMG00000074057 uc003cvh.4 NM_177938 "CCDS2781|CCDS43089" Q9NXG6 "12163023|17726031" MGI:1921693 RGD:1311848 614584 470826 HGNC:28858 "ENST00000383729.9|NM_177939.3" HGNC:28858 +HGNC:8550 PA2G4 proliferation-associated 2G4 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 EBP1 ErbB-3 receptor binding protein "proliferation-associated 2G4, 38kD|proliferation-associated 2G4, 38kDa" M24 metallopeptidase family 1442 1996-10-26 2015-11-09 2021-09-20 5036 ENSG00000170515 OTTHUMG00000170173 uc001sjm.4 "U59435|BC007561" NM_006191 CCDS8902 Q9UQ80 "9345902|17765895|32952126" MGI:894684 RGD:1302994 602145 M24.973 HGNC:8550 "ENST00000303305.11|NM_006191.3" +HGNC:8551 PA2G4P1 proliferation-associated 2G4 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 PA2G4P proliferation-associated 2G4 pseudogene 1996-10-26 2010-04-16 2010-04-16 2014-11-19 389884 ENSG00000237828 OTTHUMG00000022307 NG_005879 9345902 PGOHUM00000241521 HGNC:8551 +HGNC:16531 PA2G4P2 proliferation-associated 2G4 pseudogene 2 pseudogene pseudogene Approved 20p12.1 20p12.1 "bA102J14.2|PA2G4L5" 2001-09-17 2016-07-22 170533 ENSG00000235698 OTTHUMG00000031893 AL136460 NG_001046 9345902 PGOHUM00000297053 HGNC:16531 +HGNC:31731 PA2G4P3 proliferation-associated 2G4 pseudogene 3 pseudogene pseudogene Approved 18q11.2 18q11.2 "HsT2542|PA2G4L4" 2005-09-13 2017-10-30 619212 ENSG00000263405 OTTHUMG00000179591 NG_005881 9345902 PGOHUM00000294640 HGNC:31731 +HGNC:32217 PA2G4P4 proliferation-associated 2G4 pseudogene 4 pseudogene pseudogene Approved 3q25.31 03q25.31 PA2G4L1 2005-09-13 2014-11-19 647033 ENSG00000230457 OTTHUMG00000158644 NR_003284 9345902 PGOHUM00000237834 HGNC:32217 +HGNC:32218 PA2G4P5 proliferation-associated 2G4 pseudogene 5 pseudogene pseudogene Approved 6q21 06q21 PA2G4L2 2005-09-13 2020-04-06 389424 ENSG00000225580 OTTHUMG00000015394 NG_005878 9345902 PGOHUM00000301513 HGNC:32218 +HGNC:32219 PA2G4P6 proliferation-associated 2G4 pseudogene 6 pseudogene pseudogene Approved 9q22.2 09q22.2 PA2G4L3 2005-09-13 2016-11-02 646083 ENSG00000231799 OTTHUMG00000020186 NG_005882 9345902 PGOHUM00000304372 HGNC:32219 +HGNC:25687 PAAF1 proteasomal ATPase associated factor 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FLJ11848|Rpn14" WDR71 WD repeat domain 71 WD repeat domain containing 362 2005-05-26 2007-08-16 2015-11-23 2015-11-23 80227 ENSG00000175575 OTTHUMG00000168062 uc001ouk.3 BC006142 NM_025155 "CCDS86227|CCDS8226|CCDS58158|CCDS58157" Q9BRP4 "15831487|17317272|17289585" 619772 HGNC:25687 "ENST00000310571.8|NM_025155.3" +HGNC:23490 PABIR1 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 MGC17347 "C9orf42|FAM122A" "chromosome 9 open reading frame 42|family with sequence similarity 122A" 2003-11-20 2020-10-09 2020-10-09 2020-11-02 116224 ENSG00000187866 OTTHUMG00000019971 uc004agw.2 AK126379 NM_138333 CCDS6623 Q96E09 "25735772|27588481|33108758" MGI:1915284 RGD:1310316 617249 HGNC:23490 "ENST00000394264.7|NM_138333.5" +HGNC:30490 PABIR2 PABIR family member 2 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "DKFZp686L20116|RP11-308B5.5" FAM122B family with sequence similarity 122B 2006-07-11 2020-10-09 2020-10-09 2020-10-09 159090 ENSG00000156504 OTTHUMG00000022461 uc004exr.4 BX538218 NM_145284 "CCDS55497|CCDS14643|CCDS55499|CCDS55498" Q7Z309 12477932 MGI:1926005 RGD:1560129 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM122B HGNC:30490 "ENST00000343004.10|NM_001387468.1" +HGNC:25202 PABIR3 PABIR family member 3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 RP3-473B4.1 FAM122C family with sequence similarity 122C 2006-07-11 2020-10-09 2020-10-09 2020-10-09 159091 ENSG00000156500 OTTHUMG00000022716 uc004exy.3 BC017868 NM_138819 "CCDS76028|CCDS87777|CCDS55500|CCDS55501|CCDS14644" Q6P4D5 12477932 MGI:1921116 RGD:1590266 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM122C HGNC:25202 "ENST00000645433.2|NM_001388447.1" +HGNC:8554 PABPC1 poly(A) binding protein cytoplasmic 1 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "PABP1|PABPL1" "PAB1|PABPC2" poly(A)-binding protein, cytoplasmic 2 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 1992-09-28 2016-03-30 2016-10-05 26986 ENSG00000070756 OTTHUMG00000164779 uc003yjs.2 Y00345 NM_002568 CCDS6289 P11940 2885805 MGI:1349722 RGD:619838 604679 HGNC:8554 "ENST00000318607.10|NM_002568.4" +HGNC:15797 PABPC1L poly(A) binding protein cytoplasmic 1 like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ1069P2.3|PABPC1L1|ePAB" C20orf119 "chromosome 20 open reading frame 119|poly(A) binding protein, cytoplasmic 1-like" RNA binding motif containing 725 2001-10-29 2007-11-21 2016-03-30 2016-10-05 80336 ENSG00000101104 OTTHUMG00000032553 uc010ggv.1 AK026760 NM_001372179 CCDS42878 Q4VXU2 11549316 MGI:1922908 RGD:1563142 HGNC:15797 "ENST00000217073.7|NM_001372179.1" +HGNC:27989 PABPC1L2A poly(A) binding protein cytoplasmic 1 like 2A protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 RBM32A "RNA binding motif protein 32A|poly(A) binding protein, cytoplasmic 1-like 2A" RNA binding motif containing 725 2007-02-13 2007-11-21 2016-03-30 2020-04-01 340529 ENSG00000186288 OTTHUMG00000021824 uc004ebg.3 BC041956 NM_001012977 CCDS35334 Q5JQF8 12477932 RGD:1566367 HGNC:27989 "ENST00000373519.1|NM_001012977.3" +HGNC:31852 PABPC1L2B poly(A) binding protein cytoplasmic 1 like 2B protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 RBM32B "RNA binding motif protein 32B|poly(A) binding protein, cytoplasmic 1-like 2B" RNA binding motif containing 725 2007-02-13 2007-11-21 2016-03-30 2016-10-05 645974 ENSG00000184388 OTTHUMG00000021823 uc004ebf.4 NM_001042506 CCDS43972 Q5JQF8 HGNC:31852 "ENST00000373521.4|NM_001042506.2" +HGNC:50345 PABPC1L2B-AS1 PABPC1L2B antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved Xq13.1-q13.2 Xq13.1-q13.2 Antisense RNAs 1987 2014-04-15 2018-02-13 101928345 ENSG00000226725 OTTHUMG00000021822 NR_110398 PABPC1L2B-AS1 HGNC:50345 +HGNC:8558 PABPC1P1 poly(A) binding protein cytoplasmic 1 pseudogene 1 pseudogene pseudogene Approved 4p14 04p14 PABP1 PABPCP1 "poly(A)-binding protein, cytoplasmic, pseudogene 1|poly(A) binding protein, cytoplasmic, pseudogene 1" 1999-12-17 2010-01-06 2016-03-30 2016-03-30 26980 ENSG00000231707 OTTHUMG00000160579 U64662 NG_001268 10543404 PGOHUM00000245501 HGNC:8558 +HGNC:8559 PABPC1P2 poly(A) binding protein cytoplasmic 1 pseudogene 2 pseudogene pseudogene Approved 2q22.3 02q22.3 "PABP2|PABP4" "PABPCP4|PABPCP2" "poly(A)-binding protein, cytoplasmic, pseudogene 2|poly(A) binding protein, cytoplasmic, pseudogene 4|poly(A)-binding protein, cytoplasmic, pseudogene 4|poly(A) binding protein, cytoplasmic, pseudogene 2" 1999-12-17 2010-01-06 2016-03-30 2016-03-30 728773 ENSG00000198526 OTTHUMG00000153707 "U60801|AF132027" NR_026904 10543404 PGOHUM00000257048 HGNC:8559 +HGNC:8560 PABPC1P3 poly(A) binding protein cytoplasmic 1 pseudogene 3 pseudogene pseudogene Approved Xq13.2 Xq13.2 PABP3 PABPCP3 "poly(A)-binding protein, cytoplasmic, pseudogene 3|poly(A) binding protein, cytoplasmic, pseudogene 3" 1999-12-17 2010-01-06 2016-03-30 2016-10-05 26978 ENSG00000230673 OTTHUMG00000021858 U64661 NG_001266 10543404 PGOHUM00000241400 HGNC:8560 +HGNC:8563 PABPC1P4 poly(A) binding protein cytoplasmic 1 pseudogene 4 pseudogene pseudogene Approved 12q14.2 12q14.2 "PABPL2|PABPCP5" "poly(A)-binding protein-like 2|poly(A) binding protein, cytoplasmic pseudogene 5" 1993-06-25 2010-01-06 2016-03-30 2016-03-30 341315 ENSG00000255642 OTTHUMG00000168749 NG_008823 8432538 PGOHUM00000239830 HGNC:8563 +HGNC:37985 PABPC1P5 poly(A) binding protein cytoplasmic 1 pseudogene 5 pseudogene pseudogene Approved Yq11.21 Yq11.21 poly(A) binding protein, cytoplasmic 1 pseudogene 5 2010-03-16 2016-03-30 2017-10-30 100131374 ENSG00000270455 OTTHUMG00000185074 NG_022964 PGOHUM00000305645 HGNC:37985 +HGNC:37986 PABPC1P6 poly(A) binding protein cytoplasmic 1 pseudogene 6 pseudogene pseudogene Approved 2p11.1 02p11.1 poly(A) binding protein, cytoplasmic 1 pseudogene 6 2010-03-16 2016-03-30 2016-03-30 100128696 ENSG00000227497 OTTHUMG00000155088 NG_023006 PGOHUM00000240773 HGNC:37986 +HGNC:37987 PABPC1P7 poly(A) binding protein cytoplasmic 1 pseudogene 7 pseudogene pseudogene Approved 4q24 04q24 poly(A) binding protein, cytoplasmic 1 pseudogene 7 2010-03-16 2016-03-30 2016-03-30 100128183 ENSG00000250651 OTTHUMG00000161018 NG_011865 PGOHUM00000246014 HGNC:37987 +HGNC:37988 PABPC1P8 poly(A) binding protein cytoplasmic 1 pseudogene 8 pseudogene pseudogene Approved 10q11.21 10q11.21 poly(A) binding protein, cytoplasmic 1 pseudogene 8 2010-03-16 2016-03-30 2016-03-30 100132766 ENSG00000228755 OTTHUMG00000018007 NG_023001 PGOHUM00000238427 HGNC:37988 +HGNC:37991 PABPC1P9 poly(A) binding protein cytoplasmic 1 pseudogene 9 pseudogene pseudogene Approved 22q11.1 22q11.1 poly(A) binding protein, cytoplasmic 1 pseudogene 9 2010-03-17 2016-03-30 2016-03-30 100130338 ENSG00000229658 OTTHUMG00000140367 NG_011864 PGOHUM00000246379 HGNC:37991 +HGNC:37992 PABPC1P10 poly(A) binding protein cytoplasmic 1 pseudogene 10 pseudogene pseudogene Approved 3q25.31 03q25.31 D3S3192 PABPL1 "poly(A) binding protein-like 1|poly(A)-binding protein-like 1" 2010-03-17 2016-03-30 2016-03-30 285314 ENSG00000239443 OTTHUMG00000158466 NG_017056 8432538 PGOHUM00000237828 HGNC:37992 +HGNC:37993 PABPC1P11 poly(A) binding protein cytoplasmic 1 pseudogene 11 pseudogene pseudogene Approved 9p22.2 09p22.2 poly(A) binding protein, cytoplasmic 1 pseudogene 11 2010-03-17 2016-03-30 2016-03-30 100421058 ENSG00000228810 OTTHUMG00000019600 NG_021608 PGOHUM00000235977 HGNC:37993 +HGNC:37994 PABPC1P12 poly(A) binding protein cytoplasmic 1 pseudogene 12 pseudogene pseudogene Approved 10p11.1 10p11.1 poly(A) binding protein, cytoplasmic 1 pseudogene 12 2010-03-17 2016-03-30 2016-03-30 100129604 ENSG00000225638 OTTHUMG00000018002 NG_022171 PGOHUM00000238742 HGNC:37994 +HGNC:37995 PABPC1P13 poly(A) binding protein cytoplasmic 1 pseudogene 13 pseudogene pseudogene Approved 16p11.2 16p11.2 poly(A) binding protein, cytoplasmic 1 pseudogene 13 2010-03-17 2016-03-30 2017-10-30 644758 ENSG00000260307 OTTHUMG00000176497 NG_006145 PGOHUM00000293529 HGNC:37995 +HGNC:8556 PABPC3 poly(A) binding protein cytoplasmic 3 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "PABP3|tPABP" testis PABP PABPL3 poly(A)-binding protein, cytoplasmic 3 RNA binding motif containing 725 1993-06-25 2016-03-30 2016-10-05 5042 ENSG00000151846 OTTHUMG00000016601 uc001upy.4 AF132026 NM_030979 CCDS9311 Q9H361 "8432538|10543404" "MGI:1349722|MGI:1349723" RGD:1311201 604680 HGNC:8556 "ENST00000281589.5|NM_030979.3" +HGNC:8557 PABPC4 poly(A) binding protein cytoplasmic 4 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "iPABP|APP-1" "activated-platelet protein 1|Inducible poly(A)-binding protein" "poly(A)-binding protein, cytoplasmic 4 (inducible form)|poly(A) binding protein, cytoplasmic 4 (inducible form)" "RNA binding motif containing|Small nucleolar RNA protein coding host genes" "725|1835" 1999-12-17 2016-03-30 2016-10-05 8761 ENSG00000090621 OTTHUMG00000009097 uc001cdm.3 U33818 NM_001135653 "CCDS438|CCDS44114|CCDS44115" Q13310 10543404 MGI:2385206 RGD:1305015 603407 HGNC:8557 "ENST00000372858.8|NM_001135653.2" +HGNC:40424 PABPC4-AS1 PABPC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 Antisense RNAs 1987 2018-09-26 2018-09-26 101929516 ENSG00000228060 OTTHUMG00000009098 NR_125979 HGNC:40424 +HGNC:31955 PABPC4L poly(A) binding protein cytoplasmic 4 like protein-coding gene gene with protein product Approved 4q28.3 04q28.3 poly(A) binding protein, cytoplasmic 4-like RNA binding motif containing 725 2005-04-11 2016-03-30 2016-10-25 132430 ENSG00000254535 OTTHUMG00000161292 uc010ioe.4 AY672099 NM_001114734 P0CB38 MGI:3643087 RGD:1559517 HGNC:31955 "ENST00000421491.4|NM_001114734.2" +HGNC:13629 PABPC5 poly(A) binding protein cytoplasmic 5 protein-coding gene gene with protein product Approved Xq21.31 Xq21.31 PABP5 poly(A)-binding protein, cytoplasmic 5 RNA binding motif containing 725 2002-02-14 2016-03-30 2020-04-02 140886 ENSG00000174740 OTTHUMG00000021959 uc004efg.4 AJ278963 NM_080832 CCDS14460 Q96DU9 11374897 MGI:2136401 RGD:1587661 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PABPC5 300407 HGNC:13629 "ENST00000312600.4|NM_080832.3" HGNC:13629 +HGNC:31845 PABPC5-AS1 PABPC5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq21.31 Xq21.31 OTTHUMG00000021960 CXorf46 "chromosome X open reading frame 46|PABPC5 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2006-06-30 2011-04-28 2012-08-15 2020-04-20 102724167 ENSG00000234161 OTTHUMG00000021960 uc065aep.1 NR_110659 PABPC5-AS1 HGNC:31845 +HGNC:8565 PABPN1 poly(A) binding protein nuclear 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 PAB2 "OPMD|PABP2" "poly(A)-binding protein, nuclear 1|poly(A) binding protein, nuclear 1" RNA binding motif containing 725 1995-05-01 2016-03-30 2016-03-30 8106 ENSG00000100836 OTTHUMG00000028739 uc001wjk.4 AF026029 NM_004643 "CCDS86375|CCDS86374|CCDS9592" Q86U42 7795598 MGI:1859158 RGD:619928 602279 124051 HGNC:8565 "ENST00000216727.9|NM_004643.4" HGNC:8565 +HGNC:37237 PABPN1L PABPN1 like, cytoplasmic protein-coding gene gene with protein product Approved 16q24.3 16q24.3 ePABP2 embryonic poly(A) binding protein 2 "poly(A) binding protein nuclear 1 like (cytoplasmic)|poly(A) binding protein nuclear 1 like, cytoplasmic" RNA binding motif containing 725 2009-12-16 2019-07-03 2019-07-03 390748 ENSG00000205022 OTTHUMG00000170127 uc010vpe.3 NM_001080487 "CCDS73925|CCDS45547" A6NDY0 18483763 MGI:2685954 RGD:1562761 HGNC:37237 +HGNC:54988 PABPN1P1 PABPN1 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-15 2020-05-15 100420758 ENSG00000213018 NG_026717 +HGNC:54989 PABPN1P2 PABPN1 pseudogene 2 pseudogene pseudogene Approved 19q13.41 19q13.41 2020-05-15 2020-05-15 100420798 ENSG00000255875 NG_024278 +HGNC:8566 PABX pseudoautosomal boundary region, X-linked other region Approved Xp22.32 Xp22.32 1989-06-30 2019-10-10 5043 +HGNC:8567 PABY pseudoautosomal boundary region, Y-linked other region Approved Yp11.3 Yp11.3 1989-06-30 2019-10-10 5044 +HGNC:25593 PACC1 proton activated chloride channel 1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "FLJ10874|PAC|ASOR|PAORAC" acid-sensitive outwardly rectifying channel "C1orf75|TMEM206" "chromosome 1 open reading frame 75|transmembrane protein 206" 2005-05-19 2019-04-25 2019-04-25 2022-03-09 55248 ENSG00000065600 OTTHUMG00000036751 uc001hjc.5 AK024066 NM_018252 "CCDS55687|CCDS1504" Q9H813 "30417481|31318332" MGI:1914200 RGD:1359339 618427 HGNC:25593 "ENST00000261455.9|NM_018252.3" +HGNC:50552 PACERR PTGS2 antisense NFKB1 complex-mediated expression regulator RNA non-coding RNA RNA, long non-coding Approved 1q31.1 01q31.1 "PACER|PTGS2-AS1" "p50-associated COX-2 extragenic RNA|PTGS2 antisense RNA 1 (head to head)" Long non-coding RNAs with non-systematic symbols 1992 2014-06-04 2018-09-07 103752588 ENSG00000273129 OTTHUMG00000186484 "DA380694|BU733503" NR_125801 24843008 617650 PACERR HGNC:50552 +HGNC:19152 PACRG parkin coregulated protein-coding gene gene with protein product Approved 6q26 06q26 "PARK2CRG|FLJ32724|Glup|HAK005771" PARK2 coregulated Armadillo like helical domain containing 1492 2003-06-25 2017-02-09 2017-02-09 135138 ENSG00000112530 OTTHUMG00000016116 uc003qub.3 AK057286 NM_152410 "CCDS5284|CCDS43524" Q96M98 12547187 MGI:1916560 RGD:1561027 608427 HGNC:19152 "ENST00000366888.7|NM_001080379.2" +HGNC:27772 PACRG-AS1 PACRG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q26 06q26 PACRG antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-29 2012-08-15 2015-10-15 285796 ENSG00000281692 OTTHUMG00000189584 uc011egh.3 NR_028390 PACRG-AS1 HGNC:27772 +HGNC:40871 PACRG-AS2 PACRG antisense RNA 2 non-coding RNA RNA, long non-coding Approved 6q26 06q26 Antisense RNAs 1987 2015-10-15 2015-10-15 101929239 ENSG00000225437 OTTHUMG00000015973 NR_110871 PACRG-AS2 HGNC:40871 +HGNC:52053 PACRG-AS3 PACRG antisense RNA 3 non-coding RNA RNA, long non-coding Approved 6q26 06q26 Antisense RNAs 1987 2015-10-15 2015-10-15 2017-03-10 729658 ENSG00000225683 OTTHUMG00000187105 NR_122120 PACRG-AS3 HGNC:52053 +HGNC:28442 PACRGL parkin coregulated like protein-coding gene gene with protein product Approved 4p15.31 04p15.31 MGC29898 C4orf28 "chromosome 4 open reading frame 28|PARK2 coregulated like" Armadillo like helical domain containing 1492 2006-07-05 2008-10-02 2017-05-02 2017-05-02 133015 ENSG00000163138 OTTHUMG00000128550 uc010iek.4 AK098692 NM_145048 "CCDS58895|CCDS47034|CCDS3427|CCDS82912|CCDS58896" Q8N7B6 12477932 MGI:1914018 RGD:1311045 HGNC:28442 "ENST00000503585.6|NM_001258345.3" +HGNC:30032 PACS1 phosphofurin acidic cluster sorting protein 1 protein-coding gene gene with protein product Approved 11q13.1-q13.2 11q13.1-q13.2 "FLJ10209|KIAA1175" 2005-01-05 2021-05-26 55690 ENSG00000175115 OTTHUMG00000166889 uc001oha.3 AB033001 NM_018026 CCDS8129 Q6VY07 "12855553|14608369" MGI:1277113 RGD:620579 607492 331697 HGNC:30032 "ENST00000320580.9|NM_018026.4" HGNC:30032 +HGNC:23794 PACS2 phosphofurin acidic cluster sorting protein 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 KIAA0602 PACS1L phosphofurin acidic cluster sorting protein 1-like 2005-01-05 2005-02-15 2005-02-15 2021-05-26 23241 ENSG00000179364 OTTHUMG00000170450 uc001yqt.4 AB011174 NM_001100913 "CCDS58339|CCDS45178|CCDS32168" Q86VP3 15692567 MGI:1924399 RGD:1597262 610423 470828 HGNC:23794 "ENST00000447393.6|NM_001100913.3" HGNC:23794 +HGNC:8570 PACSIN1 protein kinase C and casein kinase substrate in neurons 1 protein-coding gene gene with protein product Approved 6p21.3 06p21.3 SDPI syndapin I F-BAR domain containing 1288 2000-02-29 2015-09-01 29993 ENSG00000124507 OTTHUMG00000014547 uc003ojo.5 AB037800 NM_001199583 CCDS4793 Q9BY11 11179684 MGI:1345181 RGD:3247 606512 HGNC:8570 "ENST00000244458.7|NM_020804.5" +HGNC:8571 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 SDPII syndapin II F-BAR domain containing 1288 1999-10-12 2016-10-05 11252 ENSG00000100266 OTTHUMG00000150701 uc003bdg.5 AF128536 NM_007229 "CCDS43023|CCDS54536" Q9UNF0 "10431838|11082044" MGI:1345153 RGD:69411 604960 HGNC:8571 "ENST00000263246.8|NM_001184970.3" +HGNC:8572 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 SDPIII syndapin III "F-BAR domain containing |MicroRNA protein coding host genes" "1288|1691" 2000-02-16 2016-01-15 29763 ENSG00000165912 OTTHUMG00000166870 uc001ndx.4 AF130979 NM_016223 CCDS31481 Q9UKS6 10531379 MGI:1891410 RGD:1307327 606513 HGNC:8572 "ENST00000298838.11|NM_016223.5" +HGNC:18367 PADI1 peptidyl arginine deiminase 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "HPAD10|PDI1|PDI|PAD1" "peptidylarginine deiminase type I|protein-arginine deiminase type-1|hPAD-colony 10" peptidyl arginine deiminase, type I Peptidyl arginine deiminases 677 2002-03-12 2016-04-06 2016-04-06 29943 ENSG00000142623 OTTHUMG00000002294 uc001bah.2 AB033768 NM_013358 CCDS178 Q9ULC6 12416996 MGI:1338893 RGD:3287 607934 objectId:2894 3.5.3.15 HGNC:18367 "ENST00000375471.5|NM_013358.3" +HGNC:18341 PADI2 peptidyl arginine deiminase 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "KIAA0994|PDI2" peptidyl arginine deiminase, type II Peptidyl arginine deiminases 677 2002-03-12 2016-04-06 2016-10-05 11240 ENSG00000117115 OTTHUMG00000002295 uc001baf.4 AB030176 NM_007365 CCDS177 Q9Y2J8 2768262 MGI:1338892 RGD:3288 607935 3.5.3.15 HGNC:18341 "ENST00000375486.9|NM_007365.3" +HGNC:18337 PADI3 peptidyl arginine deiminase 3 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 PDI3 peptidyl arginine deiminase, type III "Peptidyl arginine deiminases|MicroRNA protein coding host genes" "677|1691" 2002-03-17 2016-04-06 2016-04-06 51702 ENSG00000142619 OTTHUMG00000002373 uc001bai.4 AB026831 NM_016233 CCDS179 Q9ULW8 11069618 MGI:1338891 RGD:3289 606755 477544 objectId:2878 3.5.3.15 HGNC:18337 "ENST00000375460.3|NM_016233.2" HGNC:18337 +HGNC:18368 PADI4 peptidyl arginine deiminase 4 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "PAD|PDI5|PDI4" PADI5 "peptidyl arginine deiminase, type V|peptidyl arginine deiminase, type IV" Peptidyl arginine deiminases 677 2002-03-17 2016-04-06 2016-04-06 23569 ENSG00000159339 OTTHUMG00000002371 uc001baj.3 AB017919 NM_012387 CCDS180 Q9UM07 10488123 MGI:1338898 RGD:3290 605347 objectId:2877 3.5.3.15 HGNC:18368 "ENST00000375448.4|NM_012387.3" +HGNC:20449 PADI6 peptidyl arginine deiminase 6 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 peptidyl arginine deiminase, type VI Peptidyl arginine deiminases 677 2003-05-22 2016-04-06 2016-04-06 353238 ENSG00000276747 OTTHUMG00000002372 uc031trf.2 AY422079 NM_207421 CCDS72715 Q6TGC4 15087120 MGI:2655198 RGD:1560424 610363 3.5.3.15 HGNC:20449 "ENST00000619609.1|NM_207421.4" +HGNC:8573 PAEP progestagen associated endometrial protein protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "PEP|PP14|GdA|GdS|GdF|PAEG|GD|MGC138509|MGC142288" "glycodelin-A|glycodelin-S|glycodelin-F|progesterone-associated endometrial protein|glycodelin|PP14 protein (placental protein 14)|pregnancy-associated endometrial alpha-2-globulin|alpha uterine protein" progestagen-associated endometrial protein Lipocalins 631 1991-07-25 2016-03-16 2016-10-05 5047 ENSG00000122133 OTTHUMG00000020914 uc004cgd.2 NM_001018049 CCDS35173 P09466 "3320533|2016092" RGD:2293817 173310 HGNC:8573 "ENST00000479141.6|NM_002571.4" +HGNC:49600 PAEPP1 progestagen associated endometrial protein pseudogene 1 pseudogene pseudogene Approved 9q34.3 09q34.3 2017-08-10 2017-08-10 138159 ENSG00000224045 OTTHUMG00000020913 NG_002768 PGOHUM00000236790 HGNC:49600 +HGNC:25459 PAF1 PAF1 homolog, Paf1/RNA polymerase II complex component protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PD2|F23149_1|FLJ11123" Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) Paf1/RNA polymerase II complex 1029 2005-07-20 2015-07-08 2019-08-20 54623 ENSG00000006712 OTTHUMG00000182968 uc002old.5 NM_019088 "CCDS12533|CCDS59387" Q8N7H5 "15632063|24038468" MGI:1923988 RGD:1306219 610506 HGNC:25459 "ENST00000221265.8|NM_019088.4" +HGNC:8574 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "LIS1|PAFAH|NudF" lissencephaly-1 "MDCR|MDS" "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)|Miller-Dieker syndrome chromosome region|platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa|platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)|platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)" WD repeat domain containing 362 1998-04-03 2015-11-16 2016-06-13 5048 ENSG00000007168 OTTHUMG00000177574 uc002fuw.5 L25107 NM_000430 CCDS32528 P43034 "8355785|9063735" MGI:109520 RGD:620331 601545 124062 HGNC:8574 "ENST00000397195.10|NM_000430.4" HGNC:8574 +HGNC:8577 PAFAH1B1P1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 LIS2 PAFAH1P1 "platelet-activating factor acetylhydrolase, isoform Ib, pseudogene 1|platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 pseudogene 1" 1999-12-22 2009-12-02 2016-03-09 2019-10-16 7845 ENSG00000214354 AF092544 NG_003165 10575211 HGNC:8577 +HGNC:8578 PAFAH1B1P2 platelet activating factor acetylhydrolase 1b regulatory subunit 1 pseudogene 2 pseudogene pseudogene Approved 2q13 02q13 LIS2P PAFAH1P2 "platelet-activating factor acetylhydrolase, isoform Ib, pseudogene 2|platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 pseudogene 2" 1999-12-22 2009-12-02 2016-03-09 2020-04-22 27002 ENSG00000223973 AF092545 NG_003167 10575211 HGNC:8578 +HGNC:8575 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 PAF-AH1b alpha 2 subunit "platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa|platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)|platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)" 1998-04-03 2015-11-16 2019-08-21 5049 ENSG00000168092 OTTHUMG00000167064 uc001pqe.4 D63390 NM_002572 "CCDS53714|CCDS53715|CCDS53713|CCDS8380" P68402 "9144386|9693049" MGI:108415 RGD:620332 PAFAH1B2 602508 HGNC:8575 "ENST00000527958.6|NM_002572.4" +HGNC:54905 PAFAH1B2P1 PAFAH1B2 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-22 2020-04-22 2020-04-22 2020-04-22 139957 ENSG00000214111 NG_006977 +HGNC:54906 PAFAH1B2P2 PAFAH1B2 pseudogene 2 pseudogene pseudogene Approved 12q23.1 12q23.1 2020-04-22 2020-04-22 643711 ENSG00000257501 NR_077240 +HGNC:8576 PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 protein-coding gene gene with protein product Approved 19q13.1 19q13.1 PAF-AH1b alpha 1 subunit "platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)|platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa|platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)|platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)" 1998-04-03 2015-11-16 2020-04-01 5050 ENSG00000079462 OTTHUMG00000182795 uc010xwi.1 D63391 NM_002573 CCDS12602 Q15102 7669037 MGI:108414 RGD:620333 603074 HGNC:8576 "ENST00000262890.8|NM_002573.4" +HGNC:8579 PAFAH2 platelet activating factor acetylhydrolase 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 HSD-PLA2 "platelet-activating factor acetylhydrolase 2 (40kD)|platelet-activating factor acetylhydrolase 2, 40kDa" 1998-04-03 2016-03-09 2016-10-05 5051 ENSG00000158006 OTTHUMG00000007437 uc001bld.4 D87845 NM_000437 CCDS270 Q99487 "8955149|9494101" MGI:2140321 RGD:631399 602344 objectId:2508 HGNC:8579 "ENST00000374282.8|NM_000437.4" +HGNC:30043 PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "PAG|CBP" "Csk-binding protein|transmembrane adaptor protein PAG" phosphoprotein associated with glycosphingolipid microdomains 1 2005-04-25 2014-04-30 2016-11-01 55824 ENSG00000076641 OTTHUMG00000164592 uc003ybz.4 AF240634 NM_018440 CCDS6227 Q9NWQ8 10790433 MGI:2443160 RGD:620394 605767 HGNC:30043 "ENST00000220597.4|NM_018440.4" +HGNC:4107 PAGE1 PAGE family member 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "PAGE-1|GAGE-9|CT16.3" GAGEB1 "G antigen, family B, 1 (prostate associated)|P antigen family, member 1 (prostate associated)" PAGE family 1846 1999-04-15 2005-01-27 2015-11-18 2020-04-02 8712 ENSG00000068985 OTTHUMG00000033224 uc004dom.4 AF058989 NM_003785 CCDS14327 O75459 "9651357|9724777" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PAGE1 300288 HGNC:4107 "ENST00000376150.4|NM_003785.4" +HGNC:31804 PAGE2 PAGE family member 2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "MGC62094|PAGE-2|CT16.4" GAGEC2 "G antigen, family C, 2|P antigen family, member 2 (prostate associated)" PAGE family 1846 2005-03-22 2015-11-18 2016-10-05 203569 ENSG00000234068 OTTHUMG00000021648 uc004duf.2 BC054022 NM_207339 CCDS14367 Q7Z2X7 9724777 300738 HGNC:31804 "ENST00000374968.9|NM_207339.4" +HGNC:31805 PAGE2B PAGE family member 2B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 CT16.5 P antigen family, member 2B PAGE family 1846 2005-06-01 2015-11-18 2018-11-16 389860 ENSG00000238269 OTTHUMG00000021645 uc004due.5 NM_001015038 CCDS35304 Q5JRK9 HGNC:31805 "ENST00000374971.2|NM_001015038.3" +HGNC:4110 PAGE3 PAGE family member 3 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "PAGE-3|CT16.6" GAGED1 "G antigen, family D, 1|P antigen family, member 3 (prostate associated)" PAGE family 1846 1999-04-15 2005-01-27 2015-11-18 2020-04-02 139793 ENSG00000204279 OTTHUMG00000021654 uc022bxs.4 NM_001171252 CCDS35307 Q5JUK9 9724777 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PAGE3 300739 HGNC:4110 "ENST00000374951.6|NM_001017931.3" +HGNC:4108 PAGE4 PAGE family member 4 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "PAGE-4|CT16.7" GAGEC1 "G antigen, family C, 1|P antigen family, member 4 (prostate associated)" PAGE family 1846 1999-04-15 2005-01-27 2015-11-18 2015-11-18 9506 ENSG00000101951 OTTHUMG00000024155 uc064zfy.1 AF275258 NM_001318877 CCDS35274 O60829 9724777 300287 HGNC:4108 "ENST00000218068.7|NM_007003.4" +HGNC:29992 PAGE5 PAGE family member 5 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "PAGE-5|CT16.1|CT16.2" "cancer/testis antigen family 16, member 1|cancer/testis antigen family 16, member 2" P antigen family, member 5 (prostate associated) PAGE family 1846 2005-03-22 2015-11-18 2016-10-05 90737 ENSG00000158639 OTTHUMG00000021650 uc004duj.4 AJ344352 NM_130467 "CCDS14368|CCDS35306" Q96GU1 "11920606|11992404" 301009 HGNC:29992 "ENST00000374955.8|NM_001013435.3" +HGNC:28707 PAGR1 PAXIP1 associated glutamate rich protein 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "MGC4606|GAS|PA1" "glutamate-rich coactivator interacting with SRC1/NCOA1|PTIP-associated 1 protein|glutamate-rich coactivator associated with SRC1" C16orf53 "chromosome 16 open reading frame 53|PAXIP1 associated glutamate-rich protein 1" 2005-04-07 2012-10-12 2016-03-22 2016-03-22 79447 ENSG00000280789 OTTHUMG00000177143 uc002dug.5 BC003640 NM_024516 CCDS10655 Q9BTK6 "17500065|19039327" MGI:1914528 RGD:1305592 612033 HGNC:28707 "ENST00000320330.8|NM_024516.4" +HGNC:8582 PAH phenylalanine hydroxylase protein-coding gene gene with protein product Approved 12q23.2 12q23.2 PH phenylalanine 4-monooxygenase 1986-01-01 2016-01-15 5053 ENSG00000171759 OTTHUMG00000169966 uc001tjq.2 U49897 NM_000277 CCDS9092 P00439 2063869 MGI:97473 RGD:3248 Phenylalanine Hydroxylase Locus Knowledgebase|http://www.pahdb.mcgill.ca 612349 124068 objectId:1240 1.14.16.1 HGNC:8582 "ENST00000553106.6|NM_000277.3" HGNC:8582 +HGNC:8587 PAICS phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase protein-coding gene gene with protein product Approved 4q12 04q12 "ADE2H1|AIRC" PAIS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase Purinosome 1569 1991-03-11 2016-10-13 2016-10-13 10606 ENSG00000128050 OTTHUMG00000160957 uc003hbu.2 X53793 NM_006452 "CCDS47060|CCDS47061" P22234 "2253271|8106516" MGI:1914304 RGD:620066 172439 "4.1.1.21|6.3.2.6" HGNC:8587 "ENST00000512576.3|NM_001079524.2" +HGNC:8588 PAICSP1 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 1 pseudogene pseudogene Approved 9p13.2 09p13.2 1995-11-02 2020-04-20 780814 ENSG00000226055 OTTHUMG00000019930 NG_005828 PGOHUM00000250520 HGNC:8588 +HGNC:8589 PAICSP2 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2 pseudogene pseudogene Approved 9q22.31 09q22.31 1995-11-02 2020-04-20 780815 ENSG00000228595 OTTHUMG00000020210 NG_005829 PGOHUM00000250530 HGNC:8589 +HGNC:38096 PAICSP3 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 3 pseudogene pseudogene Approved 6q13 06q13 2010-04-16 2010-09-21 780810 ENSG00000226840 OTTHUMG00000015026 NG_005824 PGOHUM00000250212 HGNC:38096 +HGNC:38097 PAICSP4 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4 pseudogene pseudogene Approved 8p23.2 08p23.2 2010-04-16 2011-05-24 780813 ENSG00000254244 OTTHUMG00000163651 NG_005827 PGOHUM00000250016 HGNC:38097 +HGNC:38098 PAICSP5 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 5 pseudogene pseudogene Approved 7q35 07q35 2010-04-16 2014-11-19 780811 ENSG00000229877 OTTHUMG00000155897 NG_005825 PGOHUM00000233053 HGNC:38098 +HGNC:38099 PAICSP6 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 6 pseudogene pseudogene Approved 7q35 07q35 2010-04-16 2014-11-19 780812 ENSG00000241136 OTTHUMG00000157767 NG_005826 PGOHUM00000250973 HGNC:38099 +HGNC:38100 PAICSP7 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 7 pseudogene pseudogene Approved Xq21.33 Xq21.33 2010-04-16 2016-10-05 780816 ENSG00000232293 OTTHUMG00000021977 NG_005830 PGOHUM00000250055 HGNC:38100 +HGNC:16945 PAIP1 poly(A) binding protein interacting protein 1 protein-coding gene gene with protein product Approved 5p12 05p12 PABP-interacting protein 1 MIF4G domain containing proteins 2128 2003-12-16 2022-04-06 10605 ENSG00000172239 OTTHUMG00000096960 uc003job.4 AF013758 NM_006451 "CCDS3948|CCDS3947|CCDS47204" Q9H074 "9548260|11230166" MGI:2384993 RGD:1305668 605184 HGNC:16945 "ENST00000306846.8|NM_006451.5" +HGNC:18240 PAIP1P1 PAIP1 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "bQB44E15.5|bPG254M11.3|bCX300M20.3" poly(A) binding protein interacting protein 1 pseudogene 1 2003-12-16 2022-01-26 2022-01-26 100421582 ENSG00000233892 OTTHUMG00000034813 NG_025805 PGOHUM00000301319 HGNC:18240 +HGNC:56189 PAIP1P2 PAIP1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2022-01-26 2022-01-26 645139 ENSG00000174977 NG_022457 PGOHUM00000294302 +HGNC:17970 PAIP2 poly(A) binding protein interacting protein 2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 PAIP2A PABP-interacting protein 2 2003-12-16 2022-04-05 51247 ENSG00000120727 OTTHUMG00000129227 uc003led.5 AF151052 NM_016480 CCDS4211 Q9BPZ3 "11172725|16804161" MGI:1915119 RGD:1359176 605604 HGNC:17970 "ENST00000265192.9|NM_016480.5" +HGNC:29200 PAIP2B poly(A) binding protein interacting protein 2B protein-coding gene gene with protein product Approved 2p13.3 02p13.3 KIAA1155 2007-03-26 2018-11-16 400961 ENSG00000124374 OTTHUMG00000153284 uc002shu.3 NM_020459 CCDS46322 Q9ULR5 16804161 MGI:2386865 RGD:1307930 611018 HGNC:29200 "ENST00000244221.9|NM_020459.1" +HGNC:8590 PAK1 p21 (RAC1) activated kinase 1 protein-coding gene gene with protein product Approved 11q13.5-q14.1 11q13.5-q14.1 STE20 homolog, yeast "p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)|p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)|p21 protein (Cdc42/Rac)-activated kinase 1" 1997-12-05 2016-05-03 2021-05-26 5058 ENSG00000149269 OTTHUMG00000165138 uc001oyh.5 U51120 NM_002576 "CCDS44687|CCDS8250" Q13153 "8805275|9533029" MGI:1339975 RGD:3250 602590 objectId:2133 2.7.11.1 HGNC:8590 "ENST00000356341.8|NM_002576.5" HGNC:8590 +HGNC:20882 PAK1IP1 PAK1 interacting protein 1 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "FLJ20624|hPIP1|PIP1|bA421M1.5|MAK11|WDR84" WD repeat domain containing 362 2003-06-09 2016-10-05 55003 ENSG00000111845 OTTHUMG00000014245 uc003mzg.4 AF283303 NM_017906 CCDS34339 Q9NWT1 11371639 MGI:1915333 RGD:1565353 607811 HGNC:20882 "ENST00000379568.4|NM_017906.3" +HGNC:8591 PAK2 p21 (RAC1) activated kinase 2 protein-coding gene gene with protein product Approved 3q29 03q29 "PAK65|PAKgamma" S6/H4 kinase "p21 (CDKN1A)-activated kinase 2|p21 protein (Cdc42/Rac)-activated kinase 2" 1998-03-25 2016-05-03 2016-10-24 5062 ENSG00000180370 OTTHUMG00000155534 uc003fwy.4 U24153 NM_002577 CCDS3321 Q13177 "7744004|7618083" MGI:1339984 RGD:61953 605022 objectId:2134 2.7.11.1 HGNC:8591 "ENST00000327134.7|NM_002577.4" +HGNC:8592 PAK3 p21 (RAC1) activated kinase 3 protein-coding gene gene with protein product Approved Xq23 Xq23 "hPAK3|bPAK" "MRX30|MRX47" "mental retardation, X-linked 47|p21 (CDKN1A)-activated kinase 3|p21 protein (Cdc42/Rac)-activated kinase 3" 1998-03-25 2016-05-03 2021-05-26 5063 ENSG00000077264 OTTHUMG00000022202 uc010npt.2 AF068864 NM_002578 "CCDS48152|CCDS48153|CCDS14554|CCDS48151" O75914 "8826460|9731525" MGI:1339656 RGD:3251 300142 159942 objectId:2135 2.7.11.1 HGNC:8592 "ENST00000372007.10|NM_002578.5" HGNC:8592 +HGNC:16059 PAK4 p21 (RAC1) activated kinase 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "p21(CDKN1A)-activated kinase 4|p21 protein (Cdc42/Rac)-activated kinase 4" 2001-07-12 2016-05-03 2016-05-03 10298 ENSG00000130669 OTTHUMG00000182800 uc002okn.2 AJ011855 NM_001014831 "CCDS12528|CCDS33019" O96013 "9822598|10461188" MGI:1917834 RGD:1307705 605451 objectId:2136 2.7.11.1 HGNC:16059 +HGNC:15916 PAK5 p21 (RAC1) activated kinase 5 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 KIAA1264 PAK7 "p21(CDKN1A)-activated kinase 7|p21 protein (Cdc42/Rac)-activated kinase 7|p21 (RAC1) activated kinase 7" 2001-06-21 2016-06-06 2016-06-06 2016-10-05 57144 ENSG00000101349 OTTHUMG00000031857 uc002wnl.3 AB033090 NM_020341 CCDS13107 Q9P286 "11756552|10574462" MGI:1920334 RGD:1312009 608038 objectId:2138 2.7.11.1 HGNC:15916 "ENST00000353224.10|NM_177990.4" +HGNC:16061 PAK6 p21 (RAC1) activated kinase 6 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 PAK5 "p21(CDKN1A)-activated kinase 6|p21 protein (Cdc42/Rac)-activated kinase 6" 2001-07-12 2016-05-03 2016-10-05 56924 ENSG00000137843 OTTHUMG00000129921 uc059hqb.1 AF276893 NM_001276717 "CCDS61590|CCDS10054" Q9NQU5 11278661 MGI:2679420 RGD:1306213 608110 objectId:2137 2.7.11.1 HGNC:16061 +HGNC:33868 PAK6-AS1 PAK6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 FLJ38596 C15orf56 "chromosome 15 open reading frame 56|chromosome 15 putative open reading frame 56" Antisense RNAs 1987 2007-12-18 2021-02-25 2021-02-25 2021-02-25 644809 ENSG00000176753 OTTHUMG00000172399 uc001zla.3 NR_168270 Q8N910 HGNC:33868 +HGNC:26144 PALB2 partner and localizer of BRCA2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "FLJ21816|FANCN" Fanconi anemia, complementation group N "WD repeat domain containing|FA complementation groups" "362|548" 2007-01-15 2021-05-26 79728 ENSG00000083093 OTTHUMG00000177097 uc002dlx.2 NM_024675 CCDS32406 Q86YC2 "16793542|17200672" MGI:3040695 RGD:1304759 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCN|LRG_308|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_308.xml" PALB2 610355 139189 HGNC:26144 "ENST00000261584.9|NM_024675.4" HGNC:26144 +HGNC:23530 PALD1 phosphatase domain containing paladin 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "PALD|KIAA1274" "paladin|KIAA1274|phosphatase domain containing, paladin 1" 2004-05-27 2012-07-17 2018-09-27 2018-09-27 27143 ENSG00000107719 OTTHUMG00000018411 uc001jrd.5 AB033100 NM_014431 CCDS31215 Q9ULE6 29133847 MGI:1351623 RGD:1305933 614656 HGNC:23530 "ENST00000263563.7|NM_014431.3" +HGNC:17068 PALLD palladin, cytoskeletal associated protein protein-coding gene gene with protein product Approved 4q32.3 04q32.3 "KIAA0992|SIH002|CGI-151" I-set domain containing 593 2005-11-17 2014-11-19 23022 ENSG00000129116 OTTHUMG00000161097 uc003iru.3 AB023209 NM_016081 "CCDS54820|CCDS54818|CCDS54819|CCDS34098" Q8WX93 "10231032|10931874" MGI:1919583 RGD:2322545 608092 441210 HGNC:17068 "ENST00000505667.6|NM_001166108.2" +HGNC:40789 PALLD-AS1 PALLD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q32.3 04q32.3 Antisense RNAs 1987 2019-09-19 2019-09-19 107986199 ENSG00000249623 OTTHUMG00000161279 XR_001741449 HGNC:40789 +HGNC:8594 PALM paralemmin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "KIAA0270|PALM1" Paralemmins 1792 1997-05-22 2019-05-09 5064 ENSG00000099864 OTTHUMG00000181785 uc002lpm.3 Y16270 NM_002579 "CCDS32858|CCDS32857" O75781 "9615234|9813098" MGI:1261814 RGD:620341 608134 HGNC:8594 "ENST00000338448.10|NM_002579.3" +HGNC:15845 PALM2 paralemmin 2 other complex locus constituent Approved 9q31.3 09q31.3 Paralemmins 1792 2001-08-30 2020-01-22 OTTHUMG00000020479 uc004beg.4 AJ312216 "CCDS35099|CCDS48002" Q8IXS6 11478809 +HGNC:33529 PALM2AKAP2 PALM2 and AKAP2 fusion protein-coding gene gene with protein product Approved 9q31.3 09q31.3 PALM2-AKAP2 "PALM2-AKAP2 readthrough|PALM2-AKAP2 fusion" 2007-07-31 2019-07-19 2019-07-19 2019-07-19 445815 ENSG00000157654 OTTHUMG00000156812 uc004bej.5 AB023137 NM_007203 "CCDS35100|CCDS35101" "11478809|22855693" MGI:5141924 RGD:1305135 604582 HGNC:33529 +HGNC:33274 PALM3 paralemmin 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 Paralemmins 1792 2010-04-15 2010-04-15 342979 ENSG00000187867 OTTHUMG00000181991 uc010xnk.2 NM_001145028 CCDS46001 A6NDB9 MGI:1921587 RGD:2323602 HGNC:33274 "ENST00000669674.2|NM_001145028.2" +HGNC:15846 PALMD palmdelphin protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "FLJ20271|PALML" C1orf11 Paralemmins 1792 2001-08-30 2015-02-02 54873 ENSG00000099260 OTTHUMG00000010764 uc001dsg.4 AJ312214 NM_017734 CCDS758 Q9NP74 11478809 MGI:2148896 RGD:1305624 610182 HGNC:15846 "ENST00000263174.9|NM_017734.5" +HGNC:18669 PALS1 protein associated with LIN7 1, MAGUK p55 family member protein-coding gene gene with protein product Approved 14q23.3 14q23.3 FLJ12615 "stardust|protein associated with Lin-7 1" MPP5 "membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)|membrane palmitoylated protein 5|protein associated with LIN7 1, MAGUK family member" "Membrane associated guanylate kinases|PDZ domain containing|Crumbs complex" "904|1220|1223" 2002-05-23 2021-02-15 2021-09-16 2021-09-16 64398 ENSG00000072415 OTTHUMG00000171243 uc001xjc.5 AK022677 NM_022474 "CCDS9779|CCDS58325" Q8N3R9 11927608 MGI:1927339 RGD:1308071 606958 HGNC:18669 "ENST00000261681.9|NM_022474.4" +HGNC:18167 PALS2 protein associated with LIN7 2, MAGUK p55 family member protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "VAM-1|p55T" MPP6 "membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)|membrane palmitoylated protein 6|protein associated with LIN7 2, MAGUK family member" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 2002-05-23 2021-02-15 2021-09-16 2021-09-16 51678 ENSG00000105926 OTTHUMG00000023507 uc003swy.4 AF162130 NM_001303037 CCDS5388 Q9NZW5 "10753959|11311936" MGI:1927340 RGD:1311833 606959 HGNC:18167 "ENST00000222644.10|NM_001303037.2" +HGNC:8596 PAM peptidylglycine alpha-amidating monooxygenase protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "PAL|PHM" "peptidyl-alpha-hydroxyglycine alpha-amidating lyase|peptidylglycine alpha-hydroxylating monooxygenase" 1992-06-08 2017-07-07 5066 ENSG00000145730 OTTHUMG00000128729 uc003knt.4 AB095007 NM_000919 "CCDS4094|CCDS4093|CCDS54885|CCDS4092|CCDS43348" P19021 2357221 MGI:97475 RGD:3252 170270 1.14.17.3 HGNC:8596 "ENST00000438793.8|NM_001177306.2" +HGNC:29679 PAM16 presequence translocase associated motor 16 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Magmas|Tim16|TIMM16" mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction "presequence translocase-associated motor 16 homolog (S. cerevisiae)|presequence translocase associated motor 16 homolog" TIM23 complex 1552 2010-09-01 2017-08-08 2017-08-08 51025 ENSG00000217930 OTTHUMG00000129466 uc059qdf.1 AK026514 NM_016069 CCDS10512 Q9Y3D7 "10810093|11750097|20053669" MGI:1913699 RGD:1598163 614336 404774 HGNC:29679 "ENST00000318059.8|NM_016069.11" HGNC:29679 +HGNC:24554 PAMR1 peptidase domain containing associated with muscle regeneration 1 protein-coding gene gene with protein product Approved 11p13 11p13 "RAMP|DKFZP586H2123" regeneration-associated muscle protease Sushi domain containing 1179 2009-04-07 2014-11-18 25891 ENSG00000149090 OTTHUMG00000166328 uc031xjx.2 NM_015430 "CCDS60759|CCDS7898|CCDS31460|CCDS60760" Q6UXH9 15111323 MGI:2445082 RGD:1308745 HGNC:24554 "ENST00000619888.5|NM_001001991.3" +HGNC:20074 PAN2 poly(A) specific ribonuclease subunit PAN2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "KIAA0710|hPAN2" PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae) USP52 "ubiquitin specific protease 52|ubiquitin specific peptidase 52|PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)|PAN2 poly(A) specific ribonuclease subunit" "WD repeat domain containing|Ubiquitin specific peptidases|Exonucleases" "362|366|544" 2003-09-04 2008-01-08 2018-04-23 2018-04-23 9924 ENSG00000135473 OTTHUMG00000170412 uc001sky.4 AB014610 NM_014871 "CCDS44922|CCDS53802|CCDS8915" Q504Q3 "12838346|14583602" MGI:1918984 RGD:1303301 617447 C19.978 HGNC:20074 "ENST00000440411.8|NM_014871.6" +HGNC:29991 PAN3 poly(A) specific ribonuclease subunit PAN3 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)|PAN3 poly(A) specific ribonuclease subunit" 2006-04-10 2018-04-23 2018-04-23 255967 ENSG00000152520 OTTHUMG00000016645 uc001urz.4 AK091307 NM_175854 CCDS9329 Q58A45 14583602 MGI:1919837 RGD:1590880 617448 HGNC:29991 "ENST00000380958.8|NM_175854.8" +HGNC:39932 PAN3-AS1 PAN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.2 13q12.2 PAN3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-12 2012-08-15 2016-11-11 100288730 ENSG00000261485 OTTHUMG00000175971 uc058wcc.1 BC045730 NR_029383 PAN3-AS1 HGNC:39932 +HGNC:52282 PANCR PITX2 adjacent non-coding RNA non-coding RNA RNA, long non-coding Approved 4q25 04q25 Long non-coding RNAs with non-systematic symbols 1992 2016-01-29 2020-04-20 110231149 ENSG00000250103 OTTHUMG00000161118 NR_147203 "26783232|27716615" 617286 PANCR HGNC:52282 +HGNC:44048 PANDAR promoter of CDKN1A antisense DNA damage activated RNA non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 PANDA p21 associated ncRNA DNA damage activated Long non-coding RNAs with non-systematic symbols 1992 2012-12-15 2017-03-01 101154753 ENSG00000281450 OTTHUMG00000189732 uc032wvg.1 JF803844 NR_109836 21642992 617179 PANDA PANDAR HGNC:44048 +HGNC:8598 PANK1 pantothenate kinase 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "MGC24596|PANK1a|PANK1b" PANK pantothenate kinase "MicroRNA protein coding host genes|Pantothenate kinases" "1691|1956" 2000-05-02 2002-11-15 2002-11-13 2014-11-19 53354 ENSG00000152782 OTTHUMG00000018718 uc001kgn.3 AF355198 NM_138316 "CCDS7406|CCDS7405" Q8TE04 11809413 MGI:1922985 RGD:1304677 606160 HGNC:8598 "ENST00000307534.10|NM_148977.3" +HGNC:55718 PANK1-AS1 PANK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 Antisense RNAs 1987 2021-07-12 2021-07-12 105378421 ENSG00000232936 XR_001747542 +HGNC:15894 PANK2 pantothenate kinase 2 protein-coding gene gene with protein product Approved 20p13 20p13 "HSS|FLJ11729|PKAN|HARP" "Hallervorden-Spatz syndrome|pantothenate kinase-associated neurodegeneration" "C20orf48|NBIA1" neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome) "MicroRNA protein coding host genes|Pantothenate kinases" "1691|1956" 2001-06-21 2002-09-06 2008-07-31 2021-05-26 80025 ENSG00000125779 OTTHUMG00000031768 uc002wkc.3 AK021791 NM_024960 "CCDS13071|CCDS13072" Q9BZ23 "8944032|11479594" MGI:1921700 RGD:1305169 LRG_1016|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1016.xml 606157 124070 2.7.1.33 HGNC:15894 "ENST00000610179.7|NM_001386393.1" HGNC:15894 +HGNC:40732 PANK2-AS1 PANK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 Antisense RNAs 1987 2019-09-19 2019-09-19 107985395 ENSG00000229539 OTTHUMG00000031766 XR_001754478 HGNC:40732 +HGNC:19365 PANK3 pantothenate kinase 3 protein-coding gene gene with protein product Approved 5q34 05q34 FLJ12899 "MicroRNA protein coding host genes|Pantothenate kinases" "1691|1956" 2002-10-11 2016-10-05 79646 ENSG00000120137 OTTHUMG00000130410 uc003lzy.4 AK022961 NM_024594 CCDS4368 Q9H999 11479594 MGI:2387464 RGD:1310531 606161 HGNC:19365 "ENST00000239231.7|NM_024594.4" +HGNC:19366 PANK4 pantothenate kinase 4 (inactive) protein-coding gene gene with protein product Approved 1p36.32 01p36.32 FLJ10782 pantothenate kinase 4 Pantothenate kinases 1956 2002-10-11 2019-09-05 2019-09-05 55229 ENSG00000157881 OTTHUMG00000000791 uc001ajm.3 AK001644 NM_018216 CCDS42 Q9NVE7 "11479594|30927326" MGI:2387466 RGD:628857 606162 HGNC:19366 "ENST00000378466.9|NM_018216.4" HGNC:19366 +HGNC:51237 PANO1 proapoptotic nucleolar protein 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 PANO 2014-10-23 2021-07-29 101927423 ENSG00000288675 NM_001293167 CCDS73233 I0J062 22094112 HGNC:51237 +HGNC:49513 PANTR1 POU3F3 adjacent non-coding transcript 1 non-coding RNA RNA, long non-coding Approved 2q12.1 02q12.1 "linc-Brn1a|linc-POU3F3" LINC01158 long intergenic non-protein coding RNA 1158 Long non-coding RNAs with non-systematic symbols 1992 2014-01-01 2018-06-20 2018-06-20 2019-05-09 100506421 ENSG00000233639 OTTHUMG00000153065 AK096498 NR_037883 "24381249|28815543" MGI:1913547 RGD:7688151 618169 LINC01158 HGNC:49513 +HGNC:8599 PANX1 pannexin 1 protein-coding gene gene with protein product Approved 11q21 11q21 "MRS1|UNQ2529|PX1" innexin Pannexins 288 2000-07-31 2016-10-05 24145 ENSG00000110218 OTTHUMG00000167757 uc001per.4 AF093239 NM_015368 CCDS8296 Q96RD7 14597722 MGI:1860055 RGD:735204 608420 objectId:735 HGNC:8599 "ENST00000227638.8|NM_015368.4" HGNC:8599 +HGNC:8600 PANX2 pannexin 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "hPANX2|PX2" Pannexins 288 2000-07-31 2014-11-19 56666 ENSG00000073150 OTTHUMG00000044649 uc003bjn.5 NM_052839 "CCDS54544|CCDS14085" Q96RD6 "14702039|14597722" MGI:1890615 RGD:735191 608421 objectId:736 HGNC:8600 "ENST00000395842.3|NM_052839.4" +HGNC:20573 PANX3 pannexin 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 Px3 Pannexins 288 2003-02-26 2015-08-25 116337 ENSG00000154143 OTTHUMG00000165925 uc001qah.4 AF406650 NM_052959 CCDS8447 Q96QZ0 MGI:1918881 RGD:735137 608422 objectId:737 HGNC:20573 "ENST00000284288.3|NM_052959.3" +HGNC:20837 PAOX polyamine oxidase protein-coding gene gene with protein product Approved 10q26.3 10q26.3 PAO polyamine oxidase (exo-N4-amino) 2003-11-13 2016-08-11 2016-08-11 196743 ENSG00000148832 OTTHUMG00000019318 uc001lmv.5 BC032778 NM_152911 "CCDS7684|CCDS7682|CCDS7683" Q6QHF9 12660232 MGI:1916983 RGD:1561125 615853 HGNC:20837 "ENST00000278060.10|NM_152911.4" +HGNC:19262 PAPLN papilin, proteoglycan like sulfated glycoprotein protein-coding gene gene with protein product Approved 14q24.2 14q24.2 MGC50452 "I-set domain containing|ADAMTS like" "593|947" 2003-12-10 2016-06-07 2019-08-21 89932 ENSG00000100767 OTTHUMG00000171366 uc010ttx.3 BC042057 NM_173462 CCDS32114 O95428 "11076767|19734141" MGI:2386139 RGD:1311176 617785 I02.972 HGNC:19262 "ENST00000644200.2|NM_001365906.3" +HGNC:55451 PAPLN-AS1 PAPLN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 Antisense RNAs 1987 2021-01-20 2021-01-20 101928123 ENSG00000258376 NR_135248 +HGNC:14981 PAPOLA poly(A) polymerase alpha protein-coding gene gene with protein product Approved 14q32.2 14q32.2 PAP 2001-03-27 2016-01-15 10914 ENSG00000090060 OTTHUMG00000171441 uc001yfq.4 X76770 NM_001252006 "CCDS58335|CCDS86431|CCDS9946|CCDS58334" P51003 "8302877|10429366" MGI:109301 RGD:1308673 605553 2.7.7.19 HGNC:14981 "ENST00000216277.13|NM_032632.5" +HGNC:55380 PAPOLA-DT PAPOLA divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 Divergent transcripts 1990 2020-11-12 2020-11-12 730202 ENSG00000260806 NR_122121 +HGNC:15970 PAPOLB poly(A) polymerase beta protein-coding gene gene with protein product Approved 7p22.1 07p22.1 PAPT poly(A) polymerase beta (testis specific) 2001-06-25 2015-11-06 2015-11-06 56903 ENSG00000218823 OTTHUMG00000151759 uc003snk.4 AF218840 NM_020144 CCDS78202 Q9NRJ5 11150526 MGI:1932115 RGD:1310946 607436 2.7.7.19 HGNC:15970 "ENST00000404991.2|NM_020144.5" +HGNC:14982 PAPOLG poly(A) polymerase gamma protein-coding gene gene with protein product Approved 2p16.1 02p16.1 FLJ12972 2001-05-22 2014-11-19 64895 ENSG00000115421 OTTHUMG00000129419 uc002sai.4 AC012498 NM_022894 CCDS1863 Q9BWT3 MGI:2442119 RGD:1310337 616865 2.7.7.19 HGNC:14982 "ENST00000238714.8|NM_022894.4" +HGNC:8602 PAPPA pappalysin 1 protein-coding gene gene with protein product Approved 9q33.1 09q33.1 "PAPP-A|PAPPA1|IGFBP-4ase|PAPA|ASBABP2|DIPLA1" "insulin-like growth factor-dependent IGF binding protein-4 protease|aspecific BCL2 ARE-binding protein 2|differentially placenta 1 expressed protein" pregnancy-associated plasma protein A, pappalysin 1 "Pappalysins|Sushi domain containing" "897|1179" 1992-09-25 2016-03-29 2020-11-17 5069 ENSG00000182752 OTTHUMG00000021045 uc004bjn.4 NM_002581 CCDS6813 Q13219 7679961 MGI:97479 RGD:1307742 176385 M43.004 HGNC:8602 "ENST00000328252.4|NM_002581.5" +HGNC:35152 PAPPA-AS1 PAPPA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q33.2 09q33.2 "PAPPA-AS|DIPAS|TAF4B|TAF2C2|TAFII105|NCRNA00156" "DIPLA1-antisense expressed|non-protein coding RNA 156" PAPPAS "PAPPA antisense RNA (non-protein coding)|PAPPA antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-09-22 2011-04-20 2012-08-17 2014-11-19 493913 ENSG00000256040 uc033dge.2 XR_041634 Q5QFB9 15656990 610689 PAPPA-AS1 HGNC:35152 +HGNC:35160 PAPPA-AS2 PAPPA antisense RNA 2 non-coding RNA RNA, long non-coding Approved 9q33.1 09q33.1 AGU1 adipogenesis up-regulated transcript 1 Antisense RNAs 1987 2013-07-01 2013-07-04 103611155 ENSG00000226604 OTTHUMG00000020554 AK092105 NR_170222 19531736 PAPPA-AS2 +HGNC:14615 PAPPA2 pappalysin 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "PAPPE|PAPP-A2" PLAC3 placenta-specific 3 "Pappalysins|Sushi domain containing" "897|1179" 2002-04-03 2004-07-09 2004-07-07 2015-08-25 60676 ENSG00000116183 OTTHUMG00000035025 uc001gkz.4 BG354569 NM_020318 "CCDS41439|CCDS41438" Q9BXP8 "11018262|11264294" MGI:3051647 RGD:1591785 619485 M43.005 HGNC:14615 "ENST00000367662.5|NM_020318.3" +HGNC:8603 PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 protein-coding gene gene with protein product Approved 4q25 04q25 "ATPSK1|PAPSS" "sulfate adenylyltransferase|adenylyl-sulfate kinase" 1999-01-29 2016-10-05 9061 ENSG00000138801 OTTHUMG00000131210 uc003hyk.4 Y10387 NM_005443 CCDS3676 O43252 "9576487|9771708" MGI:1330587 RGD:1308081 603262 470830 "2.7.7.4|2.7.1.25" HGNC:8603 "ENST00000265174.5|NM_005443.5" +HGNC:8604 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 protein-coding gene gene with protein product Approved 10q23.2-q23.31 10q23.2-q23.31 ATPSK2 "PAPS synthase 2|adenosine 5'-phosphosulfate kinase|bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2" 1999-01-29 2021-02-08 9060 ENSG00000198682 OTTHUMG00000018683 uc001kex.4 AF091242 NM_001015880 "CCDS44453|CCDS7385" O95340 9771708 MGI:1330223 RGD:1307012 603005 124077 "2.7.7.4|2.7.1.25" HGNC:8604 "ENST00000456849.2|NM_001015880.2" HGNC:8604 +HGNC:30130 PAQR3 progestin and adipoQ receptor family member 3 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 progestin and adipoQ receptor family member III Progestin and adipoQ receptor family 930 2004-06-23 2016-03-30 2016-10-25 152559 ENSG00000163291 OTTHUMG00000161026 uc062xpp.1 AK055774 NM_177453 CCDS34020 Q6TCH7 16044242 MGI:2679683 RGD:1310426 614577 HGNC:30130 "ENST00000512733.5|NM_001040202.2" +HGNC:26386 PAQR4 progestin and adipoQ receptor family member 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ30002 progestin and adipoQ receptor family member IV Progestin and adipoQ receptor family 930 2004-06-23 2016-03-30 2018-06-04 124222 ENSG00000162073 OTTHUMG00000128977 uc002csj.5 NM_152341 "CCDS73814|CCDS66911|CCDS66912|CCDS10485" Q8N4S7 28992327 MGI:1923748 RGD:1309533 614578 HGNC:26386 "ENST00000318782.9|NM_152341.5" +HGNC:29645 PAQR5 progestin and adipoQ receptor family member 5 protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ20190|MPRG" membrane progestin receptor gamma progestin and adipoQ receptor family member V Progestin and adipoQ receptor family 930 2005-05-20 2016-03-30 2016-10-05 54852 ENSG00000137819 OTTHUMG00000133322 uc002arz.3 NM_017705 CCDS10232 Q9NXK6 12574519 MGI:1921340 RGD:1311259 607781 HGNC:29645 "ENST00000395407.7|NM_017705.4" +HGNC:55353 PAQR5-DT PAQR5 divergent transcript non-coding RNA RNA, long non-coding Approved 15q23 15q23 Divergent transcripts 1990 2020-11-05 2020-11-05 102723548 ENSG00000261634 XR_007064694 +HGNC:30132 PAQR6 progestin and adipoQ receptor family member 6 protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ22672|PRdelta" progestin and adipoQ receptor family member VI Progestin and adipoQ receptor family 930 2004-06-23 2016-03-30 2016-10-05 79957 ENSG00000160781 OTTHUMG00000017490 uc001fnu.3 AF455045 NM_024897 "CCDS72946|CCDS1136|CCDS1135|CCDS60301|CCDS72945" Q6TCH4 18603275 MGI:1916207 RGD:1584722 614579 HGNC:30132 "ENST00000292291.10|NM_198406.3" +HGNC:23146 PAQR7 progestin and adipoQ receptor family member 7 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "mSR|MPRA|PGLP" membrane progestin receptor alpha progestin and adipoQ receptor family member VII Progestin and adipoQ receptor family 930 2005-05-20 2016-03-30 2021-01-29 164091 ENSG00000182749 OTTHUMG00000007373 uc001bkx.4 NM_178422 CCDS267 Q86WK9 15589683 MGI:1919154 RGD:1563621 607779 HGNC:23146 "ENST00000675840.1|NM_178422.6" +HGNC:15708 PAQR8 progestin and adipoQ receptor family member 8 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "LMPB1|MPRB" C6orf33 "chromosome 6 open reading frame 33|progestin and adipoQ receptor family member VIII" Progestin and adipoQ receptor family 930 2001-06-01 2005-05-20 2016-03-30 2016-10-05 85315 ENSG00000170915 OTTHUMG00000014846 uc003pao.4 AF347029 NM_133367 CCDS4941 Q8TEZ7 "11676489|12574519" MGI:1921479 RGD:1311710 607780 HGNC:15708 "ENST00000442253.3|NM_133367.5" HGNC:15708 +HGNC:30131 PAQR9 progestin and adipoQ receptor family member 9 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ41938|BLNC1" brown fat long noncoding RNA progestin and adipoQ receptor family member IX Progestin and adipoQ receptor family 930 2004-06-23 2016-03-30 2021-01-13 344838 ENSG00000188582 OTTHUMG00000159313 uc003evg.5 AY424287 NM_198504 CCDS3128 Q6ZVX9 "18252|18257" MGI:1922802 RGD:1311515 614580 HGNC:30131 "ENST00000340634.6|NM_198504.4" +HGNC:50861 PAQR9-AS1 PAQR9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 Antisense RNAs 1987 2014-07-11 2014-07-11 101927832 ENSG00000241570 OTTHUMG00000159316 DB456045 NR_125393 PAQR9-AS1 HGNC:50861 +HGNC:53772 PARAL1 PPARG activating RBM14 associated lncRNA 1 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 PPARgamma-activator RBM14-associated lncRNA Long non-coding RNAs with non-systematic symbols 1992 2017-11-02 2017-11-02 101929371 ENSG00000243961 OTTHUMG00000031858 NR_109861 29075020 MGI:2677839 HGNC:53772 +HGNC:16051 PARD3 par-3 family cell polarity regulator protein-coding gene gene with protein product Approved 10p11.22-p11.21 10p11.22-p11.21 "PAR3|PARD3A|Bazooka|Baz|ASIP|PPP1R118" "atypical PKC isotype-specific interacting protein|par-3 family cell polarity regulator alpha|protein phosphatase 1, regulatory subunit 118" "par-3 (partitioning defective 3, C.elegans) homolog|par-3 partitioning defective 3 homolog (C. elegans)" "Protein phosphatase 1 regulatory subunits|PDZ domain containing" "694|1220" 2001-07-27 2013-08-28 2018-02-13 56288 ENSG00000148498 OTTHUMG00000017948 uc057srn.1 AF252293 NM_019619 "CCDS53509|CCDS53510|CCDS53511|CCDS53512|CCDS53513|CCDS53514|CCDS53515|CCDS53516|CCDS7178" Q8TEW0 10934474 MGI:2135608 RGD:620374 606745 HGNC:16051 "ENST00000374788.8|NM_001184785.2" +HGNC:44964 PARD3-DT PARD3 divergent transcript non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 PARD3-AS1 PARD3 antisense RNA 1 Divergent transcripts 1990 2012-12-20 2021-08-02 2021-08-02 2021-08-02 100505601 ENSG00000226386 OTTHUMG00000017947 uc031wcl.2 NR_108043 PARD3-AS1 HGNC:44964 +HGNC:14446 PARD3B par-3 family cell polarity regulator beta protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "Par3L|PAR3beta" ALS2CR19 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19|par-3 partitioning defective 3 homolog B (C. elegans)" PDZ domain containing 1220 2001-01-26 2006-09-28 2013-08-28 2015-08-25 117583 ENSG00000116117 OTTHUMG00000154562 uc002var.2 AB053321 NM_057177 "CCDS42804|CCDS77511|CCDS42806|CCDS42805" Q8TEW8 "11586298|12459187" MGI:1919301 RGD:1584992 619353 HGNC:14446 "ENST00000406610.7|NM_001302769.2" +HGNC:15943 PARD6A par-6 family cell polarity regulator alpha protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "PAR-6|PAR-6A|TAX40|PAR6alpha|TIP-40" "par-6 (partitioning defective 6, C.elegans) homolog alpha|par-6 partitioning defective 6 homolog alpha (C. elegans)" PDZ domain containing 1220 2001-06-21 2013-08-28 2016-10-05 50855 ENSG00000102981 OTTHUMG00000137534 uc002ets.3 NM_016948 "CCDS10843|CCDS45514" Q9NPB6 "9482110|11260256" MGI:1927223 RGD:1303273 607484 HGNC:15943 "ENST00000458121.7|NM_001037281.2" +HGNC:16245 PARD6B par-6 family cell polarity regulator beta protein-coding gene gene with protein product Approved 20q13.13 20q13.13 PAR-6B "par-6 (partitioning defective 6, C.elegans) homolog beta|par-6 partitioning defective 6 homolog beta (C. elegans)" PDZ domain containing 1220 2001-08-01 2013-08-28 2014-11-18 84612 ENSG00000124171 OTTHUMG00000032732 uc002xvo.3 AB044555 NM_032521 CCDS33485 Q9BYG5 11260256 MGI:2135605 RGD:1308205 608975 HGNC:16245 "ENST00000371610.7|NM_032521.3" +HGNC:55087 PARD6BP1 PARD6B pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2020-06-19 2020-06-19 100422369 ENSG00000237025 NG_026759 +HGNC:16076 PARD6G par-6 family cell polarity regulator gamma protein-coding gene gene with protein product Approved 18q23 18q23 "PAR-6G|PAR6gamma" "par-6 (partitioning defective 6, C.elegans) homolog gamma|par-6 partitioning defective 6 homolog gamma (C. elegans)" PDZ domain containing 1220 2001-07-31 2013-08-28 2014-11-18 84552 ENSG00000178184 OTTHUMG00000132922 uc002lny.4 NM_032510 CCDS12022 Q9BYG4 11260256 MGI:2135606 RGD:1305016 608976 HGNC:16076 "ENST00000353265.8|NM_032510.4" +HGNC:44109 PARD6G-AS1 PARD6G antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q23 18q23 PARD6G antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2012-10-12 100130522 ENSG00000267270 OTTHUMG00000180379 uc010xfo.3 AK056304 NR_028339 PARD6G-AS1 HGNC:44109 +HGNC:8605 PARG poly(ADP-ribose) glycohydrolase protein-coding gene gene with protein product Approved 10q11.23 10q11.23 1998-10-07 2015-11-18 2015-11-18 8505 ENSG00000227345 OTTHUMG00000018201 uc057tfe.1 AF005043 NM_003631 CCDS73130 Q86W56 "9115250|10449915" MGI:1347094 RGD:620387 603501 3.2.1.143 HGNC:8605 "ENST00000616448.2|NM_003631.5" +HGNC:45008 PARGP1 poly(ADP-ribose) glycohydrolase pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 2013-01-07 2015-11-18 2020-04-20 728407 ENSG00000239883 OTTHUMG00000018090 NG_032736 PGOHUM00000289837 HGNC:45008 +HGNC:16369 PARK7 Parkinsonism associated deglycase protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "DJ-1|DJ1|GATD2" "Parkinson disease (autosomal recessive, early onset) 7|parkinson protein 7" Glutamine amidotransferase class 1 domain containing 1408 2001-08-07 2016-02-15 2020-04-02 11315 ENSG00000116288 OTTHUMG00000001210 uc057byc.1 D61380 NM_007262 CCDS93 Q99497 "11462174|9070310|25416785|28596309" MGI:2135637 RGD:621808 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PARK7 602533 124084 C56.002 HGNC:16369 "ENST00000338639.10|NM_007262.5" HGNC:16369 +HGNC:55066 PARK7P1 PARK7 pseudogene 1 pseudogene pseudogene Approved 12q13.12 12q13.12 2020-06-09 2020-06-09 100422296 ENSG00000257243 NG_032901 PGOHUM00000291652 +HGNC:55067 PARK7P2 PARK7 pseudogene 2 pseudogene pseudogene Approved 9q22.32 09q22.32 2020-06-09 2020-06-09 100422232 ENSG00000237631 NG_023943 PGOHUM00000304398 +HGNC:18253 PARL presenilin associated rhomboid like protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "PRO2207|PSARL1|RHBDS1" rhomboid 7 homolog 1 (Drosophila) PSARL presenilin associated, rhomboid-like Rhomboid family 926 2003-09-03 2006-02-28 2016-04-04 2016-10-05 55486 ENSG00000175193 OTTHUMG00000156890 uc003fmd.4 AF116692 NM_018622 "CCDS33897|CCDS3248|CCDS82878" Q9H300 MGI:1277152 RGD:1306191 607858 S54.009 HGNC:18253 "ENST00000317096.9|NM_018622.7" +HGNC:24536 PARM1 prostate androgen-regulated mucin-like protein 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "DKFZP564O0823|Cipar1|WSC4" "Prostatic androgen-repressed message 1|Castration-induced prostatic apoptosis-related protein 1|WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)" 2009-09-22 2009-09-28 2016-10-05 25849 ENSG00000169116 OTTHUMG00000160827 uc003hih.3 AK022311 NM_015393 CCDS47077 Q6UWI2 "10499539|12772192|18027867" MGI:2443349 RGD:708342 617688 HGNC:24536 "ENST00000307428.7|NM_015393.4" +HGNC:41051 PARM1-AS1 PARM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q13.3 04q13.3 Antisense RNAs 1987 2019-09-19 2019-09-19 100507388 ENSG00000249717 OTTHUMG00000160830 NR_121617 HGNC:41051 +HGNC:8609 PARN poly(A)-specific ribonuclease protein-coding gene gene with protein product Approved 16p13.12 16p13.12 DAN deadenylation nuclease poly(A)-specific ribonuclease (deadenylation nuclease) "Ribosomal biogenesis factors|PARN exonuclease family" "1729|2052" 1998-07-23 2011-07-07 2021-05-26 5073 ENSG00000140694 OTTHUMG00000173199 uc010uzd.3 AJ005698 NM_002582 "CCDS58425|CCDS45419|CCDS45420" O95453 10640832 MGI:1921358 RGD:1565449 LRG_1286|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1286.xml 604212 426776 3.1.13.4 HGNC:8609 "ENST00000437198.7|NM_002582.4" HGNC:8609 +HGNC:270 PARP1 poly(ADP-ribose) polymerase 1 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 "PARP|ARTD1|Poly-PARP|PARS" "PPOL|ADPRT" "ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)|poly (ADP-ribose) polymerase family, member 1" "Zinc fingers PARP-type|Poly(ADP-ribose) polymerases" "94|684" 1986-01-01 2004-08-26 2015-11-06 2022-01-28 142 ENSG00000143799 OTTHUMG00000037556 uc001hqd.5 BC037545 NM_001618 CCDS1554 P09874 10964595 MGI:1340806 RGD:2053 173870 objectId:2771 2.4.2.30 HGNC:270 "ENST00000366794.10|NM_001618.4" +HGNC:275 PARP1P1 poly(ADP-ribose) polymerase 1 pseudogene 1 pseudogene pseudogene Approved 13q34 13q34 "PPOLP1|ADPRTP1" "ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 1|poly(ADP-ribose) polymerase family, member 1 pseudogene 1" 1986-01-01 2004-08-20 2016-03-01 2016-03-01 144 ENSG00000227105 OTTHUMG00000017350 NG_002655 2891139 PGOHUM00000248684 HGNC:275 +HGNC:276 PARP1P2 poly(ADP-ribose) polymerase 1 pseudogene 2 pseudogene pseudogene Approved 14q23.2 14q23.2 "PPOLP2|ADPRTP2" "ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 2|poly(ADP-ribose) polymerase family, member 1 pseudogene 2" 1986-01-01 2004-08-20 2016-03-01 2016-11-09 145 ENSG00000258995 OTTHUMG00000171113 AL137191 NG_002656 PGOHUM00000292693 HGNC:276 +HGNC:272 PARP2 poly(ADP-ribose) polymerase 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 ARTD2 ADPRTL2 "ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2|poly (ADP-ribose) polymerase family, member 2" Poly(ADP-ribose) polymerases 684 1999-05-24 2004-08-26 2015-11-06 2020-09-17 10038 ENSG00000129484 OTTHUMG00000166106 uc001vxc.4 AF085734 NM_001042618 "CCDS45077|CCDS41910" Q9UGN5 "10329013|18353725" MGI:1341112 RGD:1310568 607725 objectId:2772 HGNC:272 "ENST00000429687.8|NM_001042618.2" +HGNC:273 PARP3 poly(ADP-ribose) polymerase family member 3 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "ADPRT3|IRT1|hPARP-3|pADPRT-3|ARTD3" "poly(ADP-ribose) synthetase-3|NAD+ ADP-ribosyltransferase 3|poly(ADP-ribose) polymerase 3" ADPRTL3 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3 Poly(ADP-ribose) polymerases 684 1999-05-24 2004-08-26 2015-11-06 2020-09-17 10039 ENSG00000041880 OTTHUMG00000156931 uc003dby.3 AF083068 NM_005485.4 CCDS43097 Q9Y6F1 10329013 MGI:1891258 RGD:1305189 607726 objectId:2864 2.4.2.30 HGNC:273 "ENST00000398755.8|NM_001003931.4" +HGNC:271 PARP4 poly(ADP-ribose) polymerase family member 4 protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "VAULT3|p193|VPARP|VWA5C|ARTD4" "von Willebrand factor A domain containing 5C|vault poly(ADP-ribose) polymerase" ADPRTL1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 Poly(ADP-ribose) polymerases 684 1998-04-20 2004-08-26 2015-11-06 2020-09-17 143 ENSG00000102699 OTTHUMG00000016582 uc001upl.4 AF057160 NM_006437 CCDS9307 Q9UKK3 10644454 MGI:2685589 RGD:1310524 607519 470832 HGNC:271 "ENST00000381989.4|NM_006437.4" +HGNC:18500 PARP4P1 poly(ADP-ribose) polymerase family member 4 pseudogene 1 pseudogene pseudogene Approved Yq11.23-q12 Yq11.23-q12 PARP4PY1 poly (ADP-ribose) polymerase family, member 4 pseudogene, Y-linked 1 "ADPRTL1P|PARP4P" "ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 Y-linked pseudogene|poly (ADP-ribose) polymerase family, member 4 pseudogene|poly(ADP-ribose) polymerase family, member 4 pseudogene 1" 2002-05-22 2010-02-16 2015-11-18 2018-02-13 347613 ENSG00000237917 OTTHUMG00000036812 NG_002802 PGOHUM00000233887 HGNC:18500 +HGNC:37760 PARP4P2 poly(ADP-ribose) polymerase family member 4 pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 poly(ADP-ribose) polymerase family, member 4 pseudogene 2 2010-02-16 2015-11-18 2015-11-18 645771 ENSG00000224976 OTTHUMG00000016486 NG_011399 PGOHUM00000248509 HGNC:37760 +HGNC:274 PARP4P3 poly(ADP-ribose) polymerase family member 4 pseudogene 3 pseudogene pseudogene Approved 22q11.1 22q11.1 ADPRTL4 "ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 4|poly(ADP-ribose) polymerase family, member 4 pseudogene 3" 1999-10-29 2010-09-29 2015-11-18 2015-11-18 107133524 ENSG00000249263 OTTHUMG00000142831 NG_046684 10591208 PGOHUM00000246200 HGNC:274 +HGNC:26921 PARP6 poly(ADP-ribose) polymerase family member 6 protein-coding gene gene with protein product Approved 15q23 15q23 "pART17|ARTD17" Poly(ADP-ribose) polymerases 684 2004-08-25 2015-11-06 2020-01-02 56965 ENSG00000137817 OTTHUMG00000133443 uc002auc.4 AL390093 NM_020214 CCDS10241 Q2NL67 15273990 MGI:1914537 RGD:1310937 619439 HGNC:26921 "ENST00000569795.6|NM_001323532.2" +HGNC:26124 PARP8 poly(ADP-ribose) polymerase family member 8 protein-coding gene gene with protein product Approved 5q11.1 05q11.1 "FLJ21308|pART16|ARTD16" Poly(ADP-ribose) polymerases 684 2004-08-25 2015-11-06 2020-01-02 79668 ENSG00000151883 OTTHUMG00000096969 uc003joo.3 AL834477 NM_024615 "CCDS82996|CCDS3954|CCDS54849" Q8N3A8 15273990 MGI:1098713 RGD:1587384 HGNC:26124 "ENST00000281631.10|NM_024615.4" +HGNC:24118 PARP9 poly(ADP-ribose) polymerase family member 9 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "BAL|BAL1|ARTD9" "Poly(ADP-ribose) polymerases|Macro domain containing" "684|1693" 2004-09-30 2015-11-06 2020-01-02 83666 ENSG00000138496 OTTHUMG00000159522 uc003efh.5 AF307339 NM_031458 "CCDS54634|CCDS3014|CCDS54633" Q8IXQ6 11110709 MGI:1933117 RGD:1307534 612065 HGNC:24118 "ENST00000682323.1|NM_001146105.2" +HGNC:25895 PARP10 poly(ADP-ribose) polymerase family member 10 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FLJ14464|ARTD10" Poly(ADP-ribose) polymerases 684 2004-08-25 2015-11-06 2020-01-02 84875 ENSG00000178685 OTTHUMG00000165408 uc003zal.5 AK027370 NM_032789 "CCDS34960|CCDS83331" Q53GL7 15273990 MGI:3712326 RGD:7744876 609564 HGNC:25895 "ENST00000313028.12|NM_032789.5" +HGNC:1186 PARP11 poly(ADP-ribose) polymerase family member 11 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 ARTD11 C12orf6 chromosome 12 open reading frame 6 Poly(ADP-ribose) polymerases 684 2000-08-24 2004-08-26 2015-11-06 2020-09-17 57097 ENSG00000111224 OTTHUMG00000156442 uc001qml.4 AF263540 NM_001286521 "CCDS66281|CCDS8523" Q9NR21 15273990 MGI:2141505 RGD:1561791 616706 HGNC:1186 "ENST00000228820.9|NM_020367.6" +HGNC:40103 PARP11-AS1 PARP11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.32 12p13.32 Antisense RNAs 1987 2019-09-19 2019-09-19 105369609 ENSG00000256862 OTTHUMG00000168120 XR_007063167 HGNC:40103 +HGNC:21919 PARP12 poly(ADP-ribose) polymerase family member 12 protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ22693|PARP-12|ZC3H1|ARTD12" ZC3HDC1 zinc finger CCCH-type domain containing 1 "Zinc fingers CCCH-type|Poly(ADP-ribose) polymerases" "73|684" 2003-12-10 2005-06-02 2015-11-06 2020-01-02 64761 ENSG00000059378 OTTHUMG00000157315 uc003vvl.2 AL136766 NM_022750 CCDS5857 Q9H0J9 "11230166|12851707" MGI:2143990 RGD:1308628 612481 HGNC:21919 "ENST00000263549.8|NM_022750.4" +HGNC:29232 PARP14 poly(ADP-ribose) polymerase family member 14 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "KIAA1268|pART8|ARTD8|BAL2" "Poly(ADP-ribose) polymerases|Macro domain containing" "684|1693" 2004-08-25 2015-11-06 2022-01-28 54625 ENSG00000173193 OTTHUMG00000159552 uc003efq.5 AB033094 NM_017554 CCDS46894 Q460N5 15273990 MGI:1919489 RGD:1310490 610028 HGNC:29232 "ENST00000474629.7|NM_017554.3" +HGNC:26876 PARP15 poly(ADP-ribose) polymerase family member 15 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "FLJ40597|pART7|ARTD7|BAL3" "Poly(ADP-ribose) polymerases|Macro domain containing" "684|1693" 2004-08-25 2015-11-06 2022-01-28 165631 ENSG00000173200 OTTHUMG00000159523 uc003efm.3 AK097916 NM_152615 "CCDS3016|CCDS77804|CCDS77803|CCDS46893" Q460N3 15273990 612066 HGNC:26876 "ENST00000464300.7|NM_001113523.3" +HGNC:26040 PARP16 poly(ADP-ribose) polymerase family member 16 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "FLJ20509|FLJ25281|pART15|ARTD15" C15orf30 chromosome 15 open reading frame 30 "Poly(ADP-ribose) polymerases|Small nucleolar RNA protein coding host genes" "684|1835" 2004-07-05 2004-08-25 2015-11-06 2020-01-02 54956 ENSG00000138617 OTTHUMG00000133138 uc002aoq.4 AK000516 NM_017851 "CCDS10204|CCDS81897" Q8N5Y8 15273990 MGI:2446133 RGD:1306243 HGNC:26040 "ENST00000649807.2|NM_001316943.2" +HGNC:26074 PARPBP PARP1 binding protein protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "FLJ20641|PARI" PARP-1 binding protein C12orf48 chromosome 12 open reading frame 48 2006-01-24 2012-01-24 2012-01-24 2016-11-16 55010 ENSG00000185480 OTTHUMG00000167923 uc001tjf.4 AK000648 NM_017915 "CCDS81730|CCDS81728|CCDS81729|CCDS9090" Q9NWS1 20931645 MGI:1922567 RGD:2314264 613687 HGNC:26074 "ENST00000327680.7|NM_017915.5" +HGNC:30563 PARS2 prolyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1p32.3 01p32.3 DKFZp727A071 proline tRNA ligase 2, mitochondrial (putative) prolyl-tRNA synthetase 2, mitochondrial (putative) Aminoacyl tRNA synthetases, Class II 132 2005-07-05 2017-08-08 2021-05-26 25973 ENSG00000162396 OTTHUMG00000009915 uc001cxy.4 AK025585 NM_152268 CCDS597 Q7L3T8 "15779907|25629079" MGI:2386296 RGD:1305345 612036 6.1.1.15 HGNC:30563 "ENST00000371279.4|NM_152268.4" HGNC:30563 +HGNC:17263 PART1 prostate androgen-regulated transcript 1 non-coding RNA RNA, long non-coding Approved 5q12.1 05q12.1 "DKFZP586D0823|NCRNA00206" non-protein coding RNA 206 prostate androgen-regulated transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2009-09-28 2018-05-16 2018-05-16 25859 ENSG00000152931 OTTHUMG00000162213 uc003jsg.3 AF163475 NR_024617 "10706094|23726844" 604991 PART1 HGNC:17263 +HGNC:50886 PARTICL promoter of MAT2A antisense radiation-induced circulating long non-coding RNA non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 PARTICLE Long non-coding RNAs with non-systematic symbols 1992 2015-04-24 2017-08-09 100630918 ENSG00000286532 BC009563 NR_038942 "25900080|28769061" 616350 PARTICL HGNC:50886 +HGNC:14652 PARVA parvin alpha protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "FLJ12254|FLJ10793" actopaxin MXRA2 matrix-remodelling associated 2 Parvins 673 2001-04-26 2015-11-20 2018-03-02 55742 ENSG00000197702 OTTHUMG00000165778 uc001mki.5 AF237771 NM_018222 CCDS44541 Q9NVD7 11171322 MGI:1931144 RGD:71021 608120 HGNC:14652 "ENST00000334956.15|NM_018222.5" +HGNC:14653 PARVB parvin beta protein-coding gene gene with protein product Approved 22q13.31 22q13.31 CGI-56 affixin Parvins 673 2001-04-26 2015-11-20 2016-10-05 29780 ENSG00000188677 OTTHUMG00000150665 uc003ben.4 AF151814 NM_001003828 "CCDS58808|CCDS14056|CCDS74874|CCDS46724" Q9HBI1 "10810093|11171322" MGI:2153063 RGD:1311485 608121 HGNC:14653 "ENST00000338758.12|NM_013327.5" +HGNC:14654 PARVG parvin gamma protein-coding gene gene with protein product Approved 22q13.31 22q13.31 Parvins 673 2001-04-26 2015-11-20 2015-11-20 64098 ENSG00000138964 OTTHUMG00000150473 uc011aqe.4 AF237772 NM_022141 CCDS14057 Q9HBI0 11171322 MGI:2158329 RGD:1597417 608122 HGNC:14654 "ENST00000444313.8|NM_022141.7" +HGNC:20686 PASD1 PAS domain containing repressor 1 protein-coding gene gene with protein product Approved Xq28 Xq28 CT63 cancer/testis antigen 63 PAS domain containing 1 PAS domain containing 2127 2004-08-10 2017-01-17 2020-04-02 139135 ENSG00000166049 OTTHUMG00000024169 uc004fev.5 AY270020 NM_173493 CCDS35431 Q8IV76 "15122589|15162151|25936801" RGD:7496877 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PASD1 300993 HGNC:20686 "ENST00000370357.5|NM_173493.3" +HGNC:17270 PASK PAS domain containing serine/threonine kinase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "PASKIN|KIAA0135|STK37" PAS domain containing 2127 2002-01-09 2014-11-18 23178 ENSG00000115687 OTTHUMG00000133392 uc061ull.1 U79240 NM_015148 "CCDS58759|CCDS58758|CCDS2545" Q96RG2 "11688972|11459942|15148392" MGI:2155936 RGD:1306146 607505 objectId:2139 HGNC:17270 "ENST00000234040.9|NM_015148.4" +HGNC:24664 PATE1 prostate and testis expressed 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 PATE expressed in prostate and testis "PATE family|LY6/PLAUR domain containing" "674|1226" 2008-12-17 2020-04-01 160065 ENSG00000171053 OTTHUMG00000165855 uc001qct.4 AF462605 NM_138294 CCDS8464 Q8WXA2 "11880645|15798027" MGI:4936886 RGD:2319716 606861 HGNC:24664 "ENST00000305738.10|NM_138294.3" +HGNC:32249 PATE2 prostate and testis expressed 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "UNQ3112|LVLF3112|PATE-M" C11orf38 chromosome 11 open reading frame 38 "PATE family|LY6/PLAUR domain containing" "674|1226" 2005-09-18 2008-12-17 2008-12-17 2020-04-01 399967 ENSG00000196844 OTTHUMG00000165856 uc001qcu.5 AY358105 NM_212555 CCDS8465 Q6UY27 MGI:2685692 RGD:2320100 HGNC:32249 "ENST00000358524.8|NM_212555.3" +HGNC:35426 PATE3 prostate and testis expressed 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "PATE-DJ|HEL-127" "PATE family|LY6/PLAUR domain containing" "674|1226" 2008-12-17 2015-09-03 100169851 ENSG00000236027 OTTHUMG00000165857 uc009zbs.3 EF426753 NM_001129883 CCDS44764 B3GLJ2 18390568 MGI:4936999 RGD:2320151 HGNC:35426 "ENST00000445202.2|NM_001129883.4" +HGNC:35427 PATE4 prostate and testis expressed 4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FLJ41047|PATE-B" "PATE family|LY6/PLAUR domain containing" "674|1226" 2008-12-17 2015-08-25 399968 ENSG00000237353 OTTHUMG00000165235 uc001qcv.4 AK123042 NM_001144874 CCDS44765 P0C8F1 18390568 MGI:1930790 RGD:1311172 HGNC:35427 "ENST00000457514.3|NM_001144874.1" +HGNC:28881 PATJ PATJ crumbs cell polarity complex component protein-coding gene gene with protein product Approved 1p31.3 01p31.3 Cipp "inactivation-no-afterpotential D-like|Pals1-associated tight junction" INADL "InaD-like (Drosophila)|PATJ, crumbs cell polarity complex component" "PDZ domain containing|Crumbs complex|MicroRNA protein coding host genes" "1220|1223|1691" 2004-12-23 2016-02-22 2019-01-25 2019-01-25 10207 ENSG00000132849 OTTHUMG00000008560 uc001dab.4 AB044807 NM_170605 "CCDS617|CCDS85980" Q8NI35 "9280290|11374908" MGI:1277960 RGD:1565362 603199 HGNC:28881 "ENST00000642238.2|NM_001350145.3" +HGNC:55256 PATJ-DT PATJ divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Divergent transcripts 1990 2020-09-25 2020-09-25 118732297 ENSG00000271200 +HGNC:26721 PATL1 PAT1 homolog 1, processing body mRNA decay factor protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "FLJ36874|Pat1b" protein associated with topoisomerase II homolog 1 (yeast) 2007-10-18 2016-04-29 2016-04-29 219988 ENSG00000166889 OTTHUMG00000167423 uc001noe.6 AK094193 NM_152716 CCDS44613 Q86TB9 17936923 MGI:2147679 RGD:1305514 614660 HGNC:26721 "ENST00000300146.10|NM_152716.3" +HGNC:55501 PATL1-DT PATL1 divergent transcript non-coding RNA RNA, long non-coding Approved 11q12.1 11q12.1 Divergent transcripts 1990 2021-03-17 2021-03-17 120883613 ENSG00000255355 +HGNC:33630 PATL2 PAT1 homolog 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 Pat1a protein associated with topoisomerase II homolog 2 (yeast) Armadillo like helical domain containing 1492 2007-10-18 2016-04-29 2016-04-29 197135 ENSG00000229474 OTTHUMG00000171932 uc010uej.3 BC036924 NM_001145112 "CCDS81873|CCDS45253" C9JE40 17936923 MGI:1914828 RGD:1307887 614661 HGNC:33630 "ENST00000682850.1|NM_001387263.1" HGNC:33630 +HGNC:13071 PATZ1 POZ/BTB and AT hook containing zinc finger 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "MAZR|dJ400N23|ZBTB19|ZSG|RIAZ|PATZ" ZNF278 "zinc finger protein 278|POZ (BTB) and AT hook containing zinc finger 1" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1999-10-20 2006-09-19 2016-02-10 2021-04-27 23598 ENSG00000100105 OTTHUMG00000151254 uc003akq.4 AL096880 NM_032052 "CCDS13896|CCDS13895|CCDS13894|CCDS46691" Q9HBE1 "10591208|18241078|18401526" MGI:1891832 RGD:1308337 PATZ1 605165 HGNC:13071 "ENST00000266269.10|NM_014323.3" +HGNC:49670 PAUPAR PAX6 upstream antisense RNA non-coding RNA RNA, long non-coding Approved 11p13 11p13 Long non-coding RNAs with non-systematic symbols 1992 2014-02-01 2018-06-13 103157000 ENSG00000281880 OTTHUMG00000189576 KJ434992 NR_117094 "24488179|29661885" MGI:5543919 HGNC:49670 +HGNC:8614 PAWR pro-apoptotic WT1 regulator protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "par-4|PAR4" prostate apoptosis response-4 PRKC, apoptosis, WT1, regulator 1998-06-05 2016-03-10 2016-03-10 5074 ENSG00000177425 OTTHUMG00000170080 uc001syx.4 U63809 NM_002583 CCDS31863 Q96IZ0 "8943350|9790775" MGI:2149961 RGD:69065 601936 HGNC:8614 "ENST00000328827.9|NM_002583.4" +HGNC:45201 PAWRP1 pro-apoptotic WT1 regulator pseudogene 1 pseudogene pseudogene Approved 10q23.33 10q23.33 PRKC, apoptosis, WT1, regulator pseudogene 1 2013-03-07 2016-03-10 2016-03-10 100420526 ENSG00000225533 OTTHUMG00000018807 NG_025536 PGOHUM00000261101 HGNC:45201 +HGNC:45202 PAWRP2 pro-apoptotic WT1 regulator pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 PRKC, apoptosis, WT1, regulator pseudogene 2 2013-03-07 2016-03-10 2016-03-10 100420535 NG_026355 PGOHUM00000261204 HGNC:45202 +HGNC:8615 PAX1 paired box 1 protein-coding gene gene with protein product Approved 20p11.22 20p11.22 paired box gene 1 Paired boxes 675 1992-05-11 2007-07-12 2021-05-26 5075 ENSG00000125813 OTTHUMG00000032034 uc002wsj.4 NM_001257096 "CCDS13146|CCDS74709" P15863 1358810 MGI:97485 RGD:1588548 167411 376593 HGNC:8615 "ENST00000613128.5|NM_001257096.2" HGNC:8615 +HGNC:8616 PAX2 paired box 2 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 PAX-2 paired box gene 2 "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1993-06-07 2007-07-12 2022-02-10 5076 ENSG00000075891 OTTHUMG00000018913 uc001kro.4 NM_000278 "CCDS7499|CCDS41561" Q02962 "8431641|7981748" MGI:97486 RGD:1305568 167409 8481 124088 HGNC:8616 "ENST00000355243.8|NM_000278.5" HGNC:8616 +HGNC:8617 PAX3 paired box 3 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "HUP2|PAX-3" WS1 "Waardenburg syndrome 1|paired box gene 3 (Waardenburg syndrome 1)" "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1992-01-14 2007-07-12 2022-02-09 5077 ENSG00000135903 OTTHUMG00000133157 uc002vmv.3 NM_000438 "CCDS2450|CCDS46523|CCDS46522|CCDS42825|CCDS2451|CCDS42826|CCDS2448|CCDS2449" P23760 1347149 MGI:97487 RGD:620431 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PAX3 PAX3 606597 8482 124090 HGNC:8617 "ENST00000392070.7|NM_181458.4" HGNC:8617 +HGNC:8618 PAX4 paired box 4 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 MODY9 paired box gene 4 "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1993-04-07 2007-07-12 2015-08-25 5078 ENSG00000106331 OTTHUMG00000157562 uc010lld.1 NM_001366110 O43316 MGI:97488 RGD:620433 167413 8483 201085 HGNC:8618 "ENST00000639438.3|NM_001366110.1" HGNC:8618 +HGNC:8619 PAX5 paired box 5 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "BSAP|PAX-5" B-cell lineage specific activator "paired box gene 5 (B-cell lineage specific activator protein)|paired box gene 5 (B-cell lineage specific activator)" "PRD class homeoboxes and pseudogenes|Paired boxes|MicroRNA protein coding host genes" "521|675|1691" 1992-11-03 2007-07-12 2022-02-09 5079 ENSG00000196092 OTTHUMG00000019907 uc003zzo.3 NM_001280547 "CCDS65046|CCDS65041|CCDS65042|CCDS65044|CCDS6607|CCDS65043|CCDS65047|CCDS65045|CCDS65040|CCDS65039|CCDS65048" Q02548 "1516825|8431641" MGI:97489 RGD:1565236 LRG_1384|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1384.xml PAX5 167414 8484 366823 HGNC:8619 "ENST00000358127.9|NM_016734.3" HGNC:8619 +HGNC:8620 PAX6 paired box 6 protein-coding gene gene with protein product Approved 11p13 11p13 "D11S812E|AN|WAGR" "aniridia, keratitis|Aniridia 1|Aniridia 2" "AN1|AN2" paired box gene 6 (aniridia, keratitis) "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1986-01-01 2007-07-12 2021-05-26 5080 ENSG00000007372 OTTHUMG00000041447 uc058abq.1 AY707088 NM_001604 "CCDS86189|CCDS86190|CCDS31452|CCDS31451" P26367 "1302030|1505982" MGI:97490 RGD:3258 "LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=PAX6|LRG_720|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_720.xml" 607108 8396 124094 HGNC:8620 "ENST00000640368.2|NM_001368894.2" HGNC:8620 +HGNC:53448 PAX6-AS1 PAX6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p13 11p13 Antisense RNAs 1987 2017-04-19 2017-04-19 440034 NR_033971 HGNC:53448 +HGNC:8621 PAX7 paired box 7 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 Hup1 paired box gene 7 "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1992-11-20 2007-07-12 2021-05-26 5081 ENSG00000009709 OTTHUMG00000002433 uc010oct.3 X96743 NM_002584 "CCDS44075|CCDS186|CCDS44074" P23759 "7981748|8431641" MGI:97491 RGD:1564360 PAX7 167410 8485 124100 HGNC:8621 "ENST00000420770.7|NM_001135254.2" HGNC:8621 +HGNC:8622 PAX8 paired box 8 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 PAX-8 paired box gene 8 "PRD class homeoboxes and pseudogenes|Paired boxes" "521|675" 1998-11-16 2007-07-12 2022-02-09 7849 ENSG00000125618 OTTHUMG00000128529 uc010yxt.3 X69699 NM_003466 "CCDS46398|CCDS46399|CCDS42735|CCDS42736" Q06710 "8431641|7981748" MGI:97492 RGD:620434 PAX8 167415 8486 124103 HGNC:8622 "ENST00000429538.8|NM_003466.4" HGNC:8622 +HGNC:49271 PAX8-AS1 PAX8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 Antisense RNAs 1987 2013-10-14 2013-12-06 2013-12-06 2018-04-27 654433 ENSG00000189223 OTTHUMG00000153340 AK130275 NR_015377 "27225188|29693272" PAX8-AS1 HGNC:49271 +HGNC:8623 PAX9 paired box 9 protein-coding gene gene with protein product Approved 14q13.3 14q13.3 paired box gene 9 Paired boxes 675 1993-06-07 2007-07-12 2021-05-26 5083 ENSG00000198807 OTTHUMG00000140251 uc001wty.5 AJ238381 NM_001372076 CCDS9662 P55771 7981748 MGI:97493 RGD:1560838 167416 124105 HGNC:8623 "ENST00000361487.7|NM_001372076.1" HGNC:8623 +HGNC:13579 PAXBP1 PAX3 and PAX7 binding protein 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "GCFC|fSAP105" "functional spliceosome-associated protein 105|GC-rich sequence DNA-binding factor candidate" "C21orf66|GCFC1" "chromosome 21 open reading frame 66|GC-rich sequence DNA-binding factor 1" 2001-07-27 2013-01-08 2013-01-08 2015-08-25 94104 ENSG00000159086 OTTHUMG00000064980 uc002yqn.3 AF231920 NM_013329 "CCDS13619|CCDS33541" Q9Y5B6 "11707072|22862948" MGI:1914617 RGD:1584739 617621 HGNC:13579 "ENST00000331923.9|NM_016631.4" +HGNC:39603 PAXBP1-AS1 PAXBP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 GCFC1-AS1 "GCFC1 antisense RNA 1 (non-protein coding)|GCFC1 antisense RNA 1" Antisense RNAs 1987 2011-03-17 2013-01-08 2013-01-08 2014-11-19 100506215 ENSG00000238197 OTTHUMG00000064979 uc002yqk.4 BC038361 NR_038879 PAXBP1-AS1 HGNC:39603 +HGNC:50352 PAXBP1P1 PAX3 and PAX7 binding protein 1 pseudogene 1 pseudogene pseudogene Approved 7q36.2 07q36.2 2014-04-17 2014-04-17 106481704 ENSG00000233489 OTTHUMG00000151475 NG_043245 PGOHUM00000233655 HGNC:50352 +HGNC:8624 PAXIP1 PAX interacting protein 1 protein-coding gene gene with protein product Approved 7q36.2 07q36.2 "CAGF29|CAGF28|TNRC2|PTIP" PAXIP1L "PAX transcription activation domain interacting protein 1 like|PAX interacting (with transcription-activation domain) protein 1" 1999-11-25 2005-04-05 2016-03-14 2016-10-05 22976 ENSG00000157212 OTTHUMG00000151322 uc064jnx.1 U80735 NM_007349 CCDS47753 Q6ZW49 9225980 MGI:1890430 RGD:1307547 608254 HGNC:8624 "ENST00000404141.6|NM_007349.4" +HGNC:48958 PAXIP1-AS2 PAXIP1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q36.2 07q36.2 PAXIP1OS PAXIP1 opposite strand Antisense RNAs 1987 2013-07-23 2014-10-03 2014-10-03 2022-01-13 100132707 ENSG00000214106 OTTHUMG00000151324 NR_024476 33364785 PAXIP1-AS2 HGNC:48958 +HGNC:27328 PAXIP1-DT PAXIP1 divergent transcript non-coding RNA RNA, long non-coding Approved 7q36.2 07q36.2 PAXIP1-AS1 PAXIP1 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-07-23 2020-06-12 2020-06-12 2020-06-12 202781 ENSG00000273344 BI438440 NR_028090 31823805 PAXIP1-AS1 HGNC:27328 +HGNC:27849 PAXX PAXX non-homologous end joining factor protein-coding gene gene with protein product Approved 9q34.3 09q34.3 XLS "paralog of XRCC4 and XLF|XRCC4-like small protein" C9orf142 chromosome 9 open reading frame 142 2006-01-31 2017-06-09 2019-01-21 2019-01-21 286257 ENSG00000148362 OTTHUMG00000020971 uc004cki.3 BC002613 NM_183241 CCDS7020 Q9BUH6 "25574025|25941166" MGI:2442831 RGD:1306215 616315 HGNC:27849 "ENST00000371620.4|NM_183241.3" +HGNC:28790 PBDC1 polysaccharide biosynthesis domain containing 1 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 MGC874 CXorf26 chromosome X open reading frame 26 2004-06-18 2012-11-28 2012-11-28 2016-10-05 51260 ENSG00000102390 OTTHUMG00000021876 uc004ecl.2 BC001220 NM_016500 "CCDS75995|CCDS14432" Q9BVG4 11042152 MGI:1914933 RGD:1562502 HGNC:28790 "ENST00000373358.8|NM_016500.5" +HGNC:18282 PBK PDZ binding kinase protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "TOPK|FLJ14385|Nori-3|SPK|CT84" "T-LAK cell-originated protein kinase|cancer/testis antigen 84" 2005-01-20 2016-10-05 55872 ENSG00000168078 OTTHUMG00000102113 uc003xgi.5 AB027249 NM_018492 "CCDS6063|CCDS64858" Q96KB5 "10781613|10779557" MGI:1289156 RGD:1309565 611210 objectId:2140 HGNC:18282 "ENST00000301905.9|NM_018492.4" +HGNC:23301 PBLD phenazine biosynthesis like protein domain containing protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "MAWBP|MAWDBP|FLJ14767" phenazine biosynthesis-like protein domain containing 2006-11-27 2016-04-05 2016-04-05 64081 ENSG00000108187 OTTHUMG00000073949 uc001jns.1 AK027673 NM_022129 "CCDS44413|CCDS7277" P30039 11355021 MGI:1915621 RGD:621263 612189 HGNC:23301 "ENST00000358769.7|NM_022129.4" +HGNC:21079 PBOV1 prostate and breast cancer overexpressed 1 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "UC28|UROC28" 2003-05-20 2014-11-19 59351 ENSG00000254440 OTTHUMG00000167040 uc003qhv.5 AF189269 NM_021635 CCDS5190 Q9GZY1 "12553037|11156405" 605669 HGNC:21079 "ENST00000527246.3|NM_021635.3" +HGNC:30064 PBRM1 polybromo 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "BAF180|PB1|SMARCH1" "Bromodomain containing|PBAF complex" "1232|1605" 2007-03-29 2021-07-23 55193 ENSG00000163939 OTTHUMG00000152663 uc003des.3 BC015323 NM_018165 "CCDS43099|CCDS87087|CCDS2860" Q86U86 "11078522|11483580" MGI:1923998 RGD:1565549 PBRM1 606083 434716 objectId:2738 HGNC:30064 +HGNC:8632 PBX1 PBX homeobox 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "pre-B-cell leukemia transcription factor 1|pre-B-cell leukemia homeobox 1" TALE class homeoboxes and pseudogenes 526 1990-09-10 2016-05-17 2021-05-26 5087 ENSG00000185630 OTTHUMG00000034307 uc001gct.4 M86546 NM_002585 "CCDS55654|CCDS55653|CCDS1246" P40424 MGI:97495 RGD:1308213 PBX1 176310 8487 171647 HGNC:8632 "ENST00000420696.7|NM_002585.4" HGNC:8632 +HGNC:40425 PBX1-AS1 PBX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Antisense RNAs 1987 2019-09-19 2019-09-19 100505795 ENSG00000233693 OTTHUMG00000034481 NR_038072 HGNC:40425 +HGNC:8633 PBX2 PBX homeobox 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "G17|HOX12|PBX2MHC" "pre-B-cell leukemia transcription factor 2|pre-B-cell leukemia homeobox 2" TALE class homeoboxes and pseudogenes 526 1994-12-13 2016-05-17 2016-05-17 5089 ENSG00000204304 OTTHUMG00000031116 uc003oav.2 NM_002586 CCDS4748 P40425 7835890 MGI:1341793 RGD:1303084 176311 8413 HGNC:8633 "ENST00000375050.6|NM_002586.5" +HGNC:8635 PBX2P1 PBX homeobox 2 pseudogene 1 pseudogene pseudogene Approved 3q24 03q24 "PBX2|PBXP1" "pre-B-cell leukemia transcription factor pseudogene 1|pre-B-cell leukemia homeobox 2 pseudogene 1" TALE class homeoboxes and pseudogenes 526 1990-09-10 2007-01-30 2016-05-17 2016-05-17 5088 ENSG00000244171 OTTHUMG00000159350 NG_002434 1682799 8594 HGNC:8635 +HGNC:8634 PBX3 PBX homeobox 3 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "pre-B-cell leukemia transcription factor 3|pre-B-cell leukemia homeobox 3" TALE class homeoboxes and pseudogenes 526 1990-09-10 2016-05-17 2016-05-17 5090 ENSG00000167081 OTTHUMG00000020684 uc004bqb.4 NM_001134778 "CCDS6865|CCDS83416|CCDS48021" P40426 1682799 MGI:97496 RGD:1307198 176312 8488 HGNC:8634 "ENST00000373489.10|NM_006195.6" +HGNC:24638 PBX3-DT PBX3 divergent transcript non-coding RNA RNA, long non-coding Approved 9q33.3 09q33.3 Divergent transcripts 1990 2021-07-28 2021-07-28 51145 ENSG00000229582 OTTHUMG00000020682 NR_122032 +HGNC:13403 PBX4 PBX homeobox 4 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "pre-B-cell leukemia transcription factor 4|pre-B-cell leukemia homeobox 4" TALE class homeoboxes and pseudogenes 526 2001-03-14 2016-05-17 2016-05-17 80714 ENSG00000105717 OTTHUMG00000172310 uc002nmy.4 AJ300182 NM_025245 CCDS12406 Q9BYU1 MGI:1931321 RGD:1305100 608127 8543 HGNC:13403 "ENST00000251203.14|NM_025245.3" +HGNC:21199 PBXIP1 PBX homeobox interacting protein 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 HPIP "pre-B-cell leukemia transcription factor interacting protein 1|pre-B-cell leukemia homeobox interacting protein 1" 2003-05-28 2016-05-17 2016-10-05 57326 ENSG00000163346 OTTHUMG00000037369 uc001ffr.4 AF221521 NM_020524 "CCDS81382|CCDS1074" Q96AQ6 "7505766|10825160" MGI:2441670 RGD:1305180 618819 HGNC:21199 "ENST00000368463.8|NM_020524.4" +HGNC:8636 PC pyruvate carboxylase protein-coding gene gene with protein product Approved 11q13.2 11q13.2 PCB MicroRNA protein coding host genes 1691 1991-09-13 2016-10-05 5091 ENSG00000173599 OTTHUMG00000167099 uc001ojp.2 U04641 NM_001040716 CCDS8152 P11498 6548474 MGI:97520 RGD:3262 608786 124107 objectId:1262 6.4.1.1 HGNC:8636 "ENST00000393960.7|NM_001040716.2" HGNC:8636 +HGNC:8637 PCA3 prostate cancer associated 3 non-coding RNA RNA, long non-coding Approved 9q21.2 09q21.2 "DD3|NCRNA00019|PCAT3|PRUNE2-AS1" "non-protein coding RNA 19|prostate cancer associated transcript 3 (non-protein coding)|PRUNE2 antisense RNA 1|Differential Display code 3" "prostate cancer antigen 3|prostate cancer antigen 3 (non-protein coding)|prostate cancer associated 3 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2000-06-08 2018-05-16 2022-03-24 50652 ENSG00000225937 OTTHUMG00000020046 uc004akm.3 AF103907 NR_015342 "10606244|23130941|26080435" 604845 PCA3 HGNC:8637 +HGNC:34383 PCARE photoreceptor cilium actin regulator protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "FLJ34931|RP54" C2orf71 chromosome 2 open reading frame 71 2008-07-07 2018-05-08 2018-05-08 2020-04-02 388939 ENSG00000179270 OTTHUMG00000152024 uc002rmt.3 NM_001029883 CCDS42669 A6NGG8 20398886 MGI:2385061 RGD:1304963 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/C2orf71 613425 233016 HGNC:34383 "ENST00000331664.6|NM_001029883.3" HGNC:34383 +HGNC:43022 PCAT1 prostate cancer associated transcript 1 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "PCAT-1|PCA1|PiHL" p53 inhibiting lncRNA prostate cancer associated transcript 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2011-10-04 2018-05-16 2020-01-09 100750225 ENSG00000253438 OTTHUMG00000165061 uc064qdc.1 HQ605084 NR_045262 "21804560|23640607" 616043 pcat-1 PCAT1 HGNC:43022 +HGNC:45089 PCAT2 prostate cancer associated transcript 2 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "PCA2|TCONS_00015167" prostate cancer associated transcript 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-04-24 2018-05-16 2022-03-17 103164619 OTTHUMG00000165062 BU852210 NR_119373 617678 HGNC:45089 +HGNC:24853 PCAT4 prostate cancer associated transcript 4 non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 "GDEP|PCAN1|PCA4" "prostate cancer gene 1|gene differentially expressed in prostate" prostate cancer associated transcript 4 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-11 2013-05-16 2018-05-16 2018-05-16 118425 ENSG00000251321 OTTHUMG00000161746 AF388200 NR_026555 "11536302|15299187|18454873" 609717 PCAT4 HGNC:24853 +HGNC:48665 PCAT5 prostate cancer associated transcript 5 non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 TPCAT-10-36067 LINC01452 "long intergenic non-protein coding RNA 1452|prostate cancer associated transcript 5 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-12-06 2015-05-27 2018-05-16 2018-05-16 102578074 ENSG00000280719 OTTHUMG00000189575 KF154780 NR_110138 26282172 PCAT5 HGNC:48665 +HGNC:43714 PCAT6 prostate cancer associated transcript 6 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 "ncRNA-a2|PCAN-R1|KDM5BAS1|onco-lncRNA-96" prostate cancer-associated noncoding RNA 1 KDM5B-AS1 "KDM5B antisense RNA 1 (head to head)|prostate cancer associated transcript 6 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2012-02-02 2013-06-14 2018-05-16 2018-08-01 100506696 ENSG00000228288 OTTHUMG00000041399 "BI962506|AI806248" NR_046325 "20887892|23728290" KDM5BAS1 PCAT6 HGNC:43714 +HGNC:48824 PCAT7 prostate cancer associated transcript 7 non-coding RNA RNA, long non-coding Approved 9q22.32 09q22.32 PCAN-R2 prostate cancer-associated noncoding RNA 2 prostate cancer associated transcript 7 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-06-14 2018-05-16 2018-05-16 101928099 ENSG00000231806 OTTHUMG00000020270 NR_121566 23728290 PCAT7 HGNC:48824 +HGNC:48977 PCAT14 prostate cancer associated transcript 14 non-coding RNA RNA, long non-coding Approved 22q11.23 22q11.23 prostate cancer associated transcript 14 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-08-16 2018-05-16 2018-05-16 101978785 ENSG00000280623 OTTHUMG00000189569 HQ605085 NR_109832 "21804560|27460352" HGNC:48977 +HGNC:49211 PCAT18 prostate cancer associated transcript 18 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 LINC01092 long intergenic non-protein coding RNA 1092 prostate cancer associated transcript 18 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-01-20 2018-05-16 2018-05-16 728606 ENSG00000265369 OTTHUMG00000179450 NR_024259 24519926 617647 PCAT18 HGNC:49211 +HGNC:49593 PCAT19 prostate cancer associated transcript 19 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 LINC01190 long intergenic non-protein coding RNA 1190 LOC100505495 prostate cancer associated transcript 19 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-01-20 2018-05-16 2018-05-16 100505495 ENSG00000267107 OTTHUMG00000182344 BC070102 NR_040109 24497837 618192 PCAT19 HGNC:49593 +HGNC:50895 PCAT29 prostate cancer associated transcript 29 non-coding RNA RNA, long non-coding Approved 15q23 15q23 prostate cancer associated transcript 29 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-07-14 2018-05-16 2018-08-01 104472713 OTTHUMG00000172099 NR_126437 25030374 616273 PCAT29 HGNC:50895 +HGNC:8646 PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 PCD "Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)|pterin-4-alpha carbinolamine dehydratase|dimerizing cofactor for HNF1" "DCOH|PCBD" "6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)|pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)|pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha" 1993-06-08 2005-02-11 2016-01-27 2016-10-05 5092 ENSG00000166228 OTTHUMG00000018417 uc001jrn.3 BC006324 NM_000281 CCDS31217 P61457 8486378 MGI:94873 RGD:3263 BIOMDBdb: Database of Mutations Causing BH4 Deficiencies and other PND|http://www.biopku.org/home/biomdb.asp 126090 124110 4.2.1.96 HGNC:8646 "ENST00000299299.4|NM_000281.4" HGNC:8646 +HGNC:24474 PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "DCOHM|DCOH2" "6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2|pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2" MicroRNA protein coding host genes 1691 2005-02-08 2016-01-27 2016-01-27 84105 ENSG00000132570 OTTHUMG00000163070 uc032vlp.1 AF499009 NM_032151 CCDS43364 Q9H0N5 "15182178|11980910" MGI:1919812 RGD:1590239 609836 4.2.1.96 HGNC:24474 "ENST00000254908.11|NM_032151.5" +HGNC:8647 PCBP1 poly(rC) binding protein 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "HNRPE1|hnRNP-E1|HNRPX|hnRNP-X" heterogeneous nuclear ribonucleoprotein E1 poly(rC)-binding protein 1 Heterogeneous nuclear ribonucleoproteins 1950 1996-06-07 2001-11-28 2016-10-05 5093 ENSG00000169564 OTTHUMG00000129645 uc002sgf.4 NM_006196 CCDS1898 Q15365 8833161 MGI:1345635 RGD:1561319 601209 HGNC:8647 "ENST00000303577.7|NM_006196.4" +HGNC:42948 PCBP1-AS1 PCBP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 PCBP1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-08 2012-08-15 2017-06-28 400960 ENSG00000179818 OTTHUMG00000153728 uc061kby.1 NR_033872 28621149 PCBP1-AS1 HGNC:42948 +HGNC:8648 PCBP2 poly(rC) binding protein 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "HNRPE2|hnRNP-E2|HNRNPE2" heterogenous nuclear ribonucleoprotein E2 poly(rC)-binding protein 2 Heterogeneous nuclear ribonucleoproteins 1950 1996-06-07 2001-11-28 2015-09-03 5094 ENSG00000197111 OTTHUMG00000169439 uc001sdb.5 BC035420 NM_005016 "CCDS44904|CCDS44903|CCDS8859|CCDS44900|CCDS44901|CCDS44902|CCDS55830" Q15366 8833161 MGI:108202 RGD:1309626 601210 HGNC:8648 "ENST00000546463.6|NM_031989.5" +HGNC:49150 PCBP2-OT1 PCBP2 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 "TUC338|uc.338|TUC.338" transcribed ultra-conserved region 338 PCBP2 overlapping transcript 1 (non-protein coding) Overlapping transcripts 1988 2013-09-16 2014-06-02 2018-08-15 102157401 ENSG00000282977 OTTHUMG00000189729 KF041153 NR_109828 "21187392|27154519" HGNC:49150 +HGNC:8649 PCBP2P1 poly(rC) binding protein 2 pseudogene 1 pseudogene pseudogene Approved 21q22.2 21q22.2 poly(rC)-binding protein 2, pseudogene 1 2000-05-23 2010-09-24 2020-04-20 101060045 ENSG00000235701 OTTHUMG00000066029 NG_000916 PGOHUM00000239084 HGNC:8649 +HGNC:8650 PCBP2P2 poly(rC) binding protein 2 pseudogene 2 pseudogene pseudogene Approved 8q21.12 08q21.12 poly(rC)-binding protein 2, pseudogene 2 2000-08-31 2010-09-24 2020-04-06 286157 ENSG00000253341 OTTHUMG00000164512 NG_008071 10936052 PGOHUM00000249392 HGNC:8650 +HGNC:39032 PCBP2P3 poly(rC) binding protein 2 pseudogene 3 pseudogene pseudogene Approved 5q14.3 05q14.3 2010-09-24 2014-11-19 100131236 ENSG00000248826 OTTHUMG00000162612 NG_021857 PGOHUM00000235309 HGNC:39032 +HGNC:8651 PCBP3 poly(rC) binding protein 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 FLJ44028 "PCBP3-OT1|PCBP3OT" "poly(rC)-binding protein 3|PCBP3 overlapping transcript 1|poly(rC) binding protein 3 overlapping transcript|PCBP3 overlapping transcript (non-protein coding)" 2000-05-23 2001-11-28 2017-01-19 54039 ENSG00000183570 OTTHUMG00000090399 uc002zhq.3 AF176329 NM_001130141 "CCDS46652|CCDS42974|CCDS86994|CCDS86993" P57721 10936052 MGI:1890470 RGD:1307430 608502 HGNC:8651 "ENST00000681687.1|NM_001384156.1" +HGNC:40426 PCBP3-AS1 PCBP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Antisense RNAs 1987 2019-09-19 2019-09-19 100129027 ENSG00000205424 OTTHUMG00000090417 NR_038876 HGNC:40426 +HGNC:8652 PCBP4 poly(rC) binding protein 4 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "MCG10|LIP4" "RNA binding protein MCG10|LYST-interacting protein|alphaCP-4 protein" poly(rC)-binding protein 4 2000-08-31 2001-11-28 2016-10-05 57060 ENSG00000090097 OTTHUMG00000157366 uc003dch.3 AF176330 NM_020418 "CCDS2840|CCDS2839|CCDS87085" P57723 10936052 MGI:1890471 RGD:1307910 608503 HGNC:8652 "ENST00000461554.6|NM_001174100.2" +HGNC:8653 PCCA propionyl-CoA carboxylase subunit alpha protein-coding gene gene with protein product Approved 13q32.3 13q32.3 propionyl Coenzyme A carboxylase, alpha polypeptide 1986-01-01 2018-04-23 2021-05-26 5095 ENSG00000175198 OTTHUMG00000017284 uc001voo.4 X14608 NM_000282 "CCDS53878|CCDS45065|CCDS9496" P05165 1427880 MGI:97499 RGD:3264 Propionyl CoA Carboxylase Page|http://cbs.lf1.cuni.cz/pcc/pccmain.htm 232000 124115 objectId:1266 6.4.1.3 HGNC:8653 "ENST00000376285.6|NM_000282.4" HGNC:8653 +HGNC:39901 PCCA-AS1 PCCA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 PCCA antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2014-11-19 100885777 ENSG00000234650 OTTHUMG00000017286 uc058yan.1 NR_047686 PCCA-AS1 HGNC:39901 +HGNC:53266 PCCA-DT PCCA divergent transcript non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 Divergent transcripts 1990 2019-06-17 2019-06-17 105370333 ENSG00000274605 OTTHUMG00000187284 NR_132422 HGNC:53266 +HGNC:8654 PCCB propionyl-CoA carboxylase subunit beta protein-coding gene gene with protein product Approved 3q22.3 03q22.3 propionyl Coenzyme A carboxylase, beta polypeptide 1986-01-01 2018-04-23 2021-05-26 5096 ENSG00000114054 OTTHUMG00000159792 uc003eqy.3 NM_000532 "CCDS54643|CCDS3089" P05166 2895916 MGI:1914154 RGD:3265 Propionyl CoA Carboxylase Page|http://cbs.lf1.cuni.cz/pcc/pccmain.htm 232050 124117 objectId:1267 6.4.1.3 HGNC:8654 "ENST00000251654.9|NM_000532.5" HGNC:8654 +HGNC:8655 PCDH1 protocadherin 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 pc42 protocadherin 1 (cadherin-like 1) Non-clustered protocadherins 21 1994-12-12 2007-02-12 2015-08-26 5097 ENSG00000156453 OTTHUMG00000129661 uc003llp.4 AK075233 NM_032420 "CCDS43375|CCDS4267" Q08174 8508762 MGI:104692 RGD:1308490 603626 HGNC:8655 "ENST00000287008.8|NM_032420.5" +HGNC:8659 PCDH7 protocadherin 7 protein-coding gene gene with protein product Approved 4p15.1 04p15.1 "BH-Pcdh|PPP1R120" protein phosphatase 1, regulatory subunit 120 BH-protocadherin (brain-heart) "Non-clustered protocadherins|Protein phosphatase 1 regulatory subunits" "21|694" 1997-10-30 2007-02-12 2016-10-25 5099 ENSG00000169851 OTTHUMG00000160364 uc003gsk.2 AB006755 "NM_032457|NM_002589" CCDS33971 O60245 9615233 MGI:1860487 RGD:1303209 602988 HGNC:8659 +HGNC:8660 PCDH8 protocadherin 8 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "PAPC|ARCADLIN" Non-clustered protocadherins 21 1998-04-21 2016-10-05 5100 ENSG00000136099 OTTHUMG00000016979 uc001vhi.4 AF061573 NM_002590 "CCDS9438|CCDS9439" O95206 "9787079|9315676" MGI:1306800 RGD:69350 603580 470834 HGNC:8660 "ENST00000377942.7|NM_002590.4" +HGNC:39937 PCDH8P1 protocadherin 8 pseudogene 1 pseudogene pseudogene Approved 13q14.3 13q14.3 2011-04-13 2011-04-13 100133285 ENSG00000225510 OTTHUMG00000016982 NG_011534 PGOHUM00000248601 HGNC:39937 +HGNC:8661 PCDH9 protocadherin 9 protein-coding gene gene with protein product Approved 13q21.32 13q21.32 Non-clustered protocadherins 21 1998-04-21 2015-08-26 5101 ENSG00000184226 OTTHUMG00000017040 uc001vik.4 AF169692 NM_203487 "CCDS81769|CCDS9443|CCDS9444|CCDS81770" Q9HC56 9787079 MGI:1306801 RGD:1306348 603581 HGNC:8661 "ENST00000377865.7|NM_203487.3" +HGNC:39897 PCDH9-AS1 PCDH9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 PCDH9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2014-11-19 100874065 ENSG00000234527 OTTHUMG00000017034 uc058xjt.1 PCDH9-AS1 +HGNC:39896 PCDH9-AS2 PCDH9 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 PCDH9 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2014-11-19 100874064 ENSG00000228842 OTTHUMG00000017037 uc031qmb.1 NR_046527 PCDH9-AS2 HGNC:39896 +HGNC:40427 PCDH9-AS3 PCDH9 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 PCDH9 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874086 ENSG00000225263 OTTHUMG00000017038 uc031qmc.2 NR_046636 PCDH9-AS3 HGNC:40427 +HGNC:40428 PCDH9-AS4 PCDH9 antisense RNA 4 non-coding RNA RNA, long non-coding Approved 13q21.32 13q21.32 PCDH9 antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2011-05-18 2012-08-15 2014-11-19 100874087 ENSG00000233840 OTTHUMG00000017036 uc032ais.2 NR_046637 PCDH9-AS4 HGNC:40428 +HGNC:13404 PCDH10 protocadherin 10 protein-coding gene gene with protein product Approved 4q28.3 04q28.3 "OL-PCDH|KIAA1400" Non-clustered protocadherins 21 2001-06-25 2016-10-25 57575 ENSG00000138650 OTTHUMG00000161301 uc003iha.4 AB037821 NM_032961 "CCDS34063|CCDS75192" Q9P2E7 10835267 MGI:1338042 RGD:1565811 608286 HGNC:13404 "ENST00000264360.7|NM_032961.3" +HGNC:53036 PCDH10-DT PCDH10 divergent transcript non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Divergent transcripts 1990 2021-04-07 2021-04-07 101927359 ENSG00000250241 OTTHUMG00000161299 NR_125885 +HGNC:8656 PCDH11X protocadherin 11 X-linked protein-coding gene gene with protein product Approved Xq21.31 Xq21.31 "PCDH-X|PCDHX|PPP1R119" protein phosphatase 1, regulatory subunit 119 PCDH11 protocadherin 11 "Non-clustered protocadherins|Protein phosphatase 1 regulatory subunits" "21|694" 2000-02-17 2002-05-24 2002-05-22 2020-04-02 27328 ENSG00000102290 OTTHUMG00000021965 uc004efk.3 AB026187 NM_032969 "CCDS55461|CCDS14462|CCDS14461|CCDS55459|CCDS55460|CCDS55458" Q9BZA7 10644456 MGI:2442849 RGD:1562864 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCDH11X 300246 HGNC:8656 "ENST00000682573.1|NM_032968.5" +HGNC:15813 PCDH11Y protocadherin 11 Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 PCDHY PCDH22 protocadherin 22 Non-clustered protocadherins 21 2001-06-15 2002-05-24 2002-05-22 2015-09-08 83259 ENSG00000099715 OTTHUMG00000035105 uc004fqo.5 AF332217 NM_032973 "CCDS14777|CCDS14776|CCDS76066" Q9BZA8 "10644456|11003707" MGI:2442849 400022 HGNC:15813 +HGNC:8657 PCDH12 protocadherin 12 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 VE-cadherin-2 Non-clustered protocadherins 21 2000-06-28 2021-10-19 51294 ENSG00000113555 OTTHUMG00000129658 uc003llx.4 AF231025 NM_016580 CCDS4269 Q9NPG4 "10716726|10380929" MGI:1855700 RGD:619917 605622 HGNC:8657 "ENST00000231484.4|NM_016580.4" HGNC:8657 +HGNC:14674 PCDH15 protocadherin related 15 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 CDHR15 cadherin-related family member 15 "USH1F|DFNB23" "deafness, autosomal recessive 23|protocadherin 15" "Cadherin related|MicroRNA protein coding host genes" "24|1691" 2001-02-27 2016-06-08 2021-05-26 65217 ENSG00000150275 OTTHUMG00000018259 uc057tid.1 AY029205 NM_033056 "CCDS86094|CCDS86093|CCDS44404|CCDS44403|CCDS44401|CCDS44400|CCDS7248|CCDS73134|CCDS73135|CCDS73136|CCDS73137|CCDS73138|CCDS86095" Q96QU1 "11398101|14570705" MGI:1891428 RGD:1590969 "Mutations of the Protocadherin 15 Gene|http://www.retina-international.org/files/sci-news/pcdhmut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=PCDH15" 605514 124119 HGNC:14674 "ENST00000644397.2|NM_001384140.1" HGNC:14674 +HGNC:14267 PCDH17 protocadherin 17 protein-coding gene gene with protein product Approved 13q21.1 13q21.1 "PCDH68|PCH68" Non-clustered protocadherins 21 2000-12-19 2015-08-26 27253 ENSG00000118946 OTTHUMG00000016992 uc001vhq.2 AF029343 NM_001040429 CCDS31986 O14917 10835267 MGI:2684924 RGD:1304753 611760 HGNC:14267 "ENST00000377918.8|NM_001040429.3" +HGNC:14268 PCDH18 protocadherin 18 protein-coding gene gene with protein product Approved 4q28.3 04q28.3 "KIAA1562|PCDH68L" Non-clustered protocadherins 21 2000-12-19 2015-08-26 54510 ENSG00000189184 OTTHUMG00000161348 uc003ihe.5 AL137471 NM_019035 "CCDS34064|CCDS75193" Q9HCL0 "10835267|11549318" MGI:1920423 RGD:1305870 608287 HGNC:14268 "ENST00000344876.9|NM_019035.5" +HGNC:14270 PCDH19 protocadherin 19 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "KIAA1313|EIEE9" EFMR epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) Non-clustered protocadherins 21 2001-02-02 2021-05-26 57526 ENSG00000165194 OTTHUMG00000022000 uc004efx.5 AB037734 NM_020766 "CCDS55462|CCDS43976|CCDS48141" Q8TAB3 "11549318|18469813|19752159" MGI:2685563 RGD:1565392 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCDH19|LRG_843|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_843.xml" 300460 168339 HGNC:14270 "ENST00000373034.8|NM_001184880.2" HGNC:14270 +HGNC:14257 PCDH20 protocadherin 20 protein-coding gene gene with protein product Approved 13q21.2 13q21.2 "PCDH13|FLJ22218" Non-clustered protocadherins 21 2000-12-14 2016-10-05 64881 ENSG00000280165 OTTHUMG00000017012 uc001vid.5 AF169693 NM_022843 CCDS9442 Q8N6Y1 MGI:2443376 RGD:1306297 614449 HGNC:14257 +HGNC:8662 PCDHA@ protocadherin alpha cluster, complex locus protein-coding gene gene with protein product Approved 5q31 05q31 CNR1 CNRS1 protocadherin alpha cluster Clustered protocadherins 20 1999-11-26 2010-11-26 2016-10-24 56117 NG_000016 "10662547|10380929" 604966 HGNC:8662 +HGNC:8663 PCDHA1 protocadherin alpha 1 other complex locus constituent Approved 5q31.3 05q31.3 KIAA0345-like 13 Clustered protocadherins 20 2000-06-28 2016-10-24 56147 ENSG00000204970 OTTHUMG00000163368 uc003lhb.4 AF152479 NM_018900 "CCDS54912|CCDS54913" Q9Y5I3 10380929 MGI:2150982 RGD:735016 606307 HGNC:8663 "ENST00000504120.4|NM_018900.4" +HGNC:8668 PCDHA2 protocadherin alpha 2 other complex locus constituent Approved 5q31.3 05q31.3 KIAA0345-like 12 Clustered protocadherins 20 2000-06-28 2016-11-15 56146 ENSG00000204969 OTTHUMG00000163363 uc003lhd.3 AF152480 NM_018905 "CCDS64269|CCDS54914" Q9Y5H9 10380929 MGI:2681880 RGD:735182 606308 HGNC:8668 "ENST00000526136.2|NM_018905.3" +HGNC:8669 PCDHA3 protocadherin alpha 3 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-ALPHA3 KIAA0345-like 11 Clustered protocadherins 20 2000-06-28 2016-11-15 56145 ENSG00000255408 OTTHUMG00000163357 uc003lhf.2 AF152481 NM_018906 CCDS54915 Q9Y5H8 10380929 MGI:2447313 RGD:620336 606309 HGNC:8669 "ENST00000522353.3|NM_018906.3" +HGNC:8670 PCDHA4 protocadherin alpha 4 other complex locus constituent Approved 5q31.3 05q31.3 "CNR1|CRNR1|PCDH-ALPHA4|CNRN1" ortholog of mouse CNR1, KIAA0345-like 10 Clustered protocadherins 20 2000-06-28 2016-11-15 56144 ENSG00000204967 OTTHUMG00000163360 uc003lhi.4 AF152482 NM_018907 CCDS54916 Q9UN74 "10380929|10662547" "MGI:1298408|MGI:5610241" RGD:620337 606310 HGNC:8670 "ENST00000530339.2|NM_018907.4" +HGNC:8671 PCDHA5 protocadherin alpha 5 other complex locus constituent Approved 5q31.3 05q31.3 "CNR6|CRNR6|CNRN6|PCDH-ALPHA5" "ortholog of mouse CNR6|KIAA0345-like 9" CNRS6 Clustered protocadherins 20 2000-06-28 2016-10-24 56143 ENSG00000204965 OTTHUMG00000163367 uc003lhl.2 AF152483 NM_018908 CCDS54917 Q9Y5H7 "10380929|10662547" MGI:1298371 RGD:735200 606311 HGNC:8671 "ENST00000529859.2|NM_018908.3" +HGNC:8672 PCDHA6 protocadherin alpha 6 other complex locus constituent Approved 5q31.3 05q31.3 "CNR2|CRNR2|PCDH-ALPHA6" KIAA0345-like 8 CNRS2 Clustered protocadherins 20 2000-06-28 2016-10-05 56142 ENSG00000081842 OTTHUMG00000163353 uc003lho.4 AF152484 NM_018909 "CCDS47282|CCDS47281" Q9UN73 "10380929|10662547" MGI:1298367 RGD:735165 606312 HGNC:8672 "ENST00000529310.6|NM_018909.4" +HGNC:8673 PCDHA7 protocadherin alpha 7 other complex locus constituent Approved 5q31.3 05q31.3 "CNR4|CRNR4" "KIAA0345-like 7|ortholog to mouse CNR4" CNRS4 Clustered protocadherins 20 2000-06-28 2016-10-24 56141 ENSG00000204963 OTTHUMG00000163371 uc003lhq.2 AF152485 NM_018910 CCDS54918 Q9UN72 "10380929|10662547" "MGI:1298369|MGI:2681879" RGD:735055 606313 HGNC:8673 "ENST00000525929.2|NM_018910.3" +HGNC:8674 PCDHA8 protocadherin alpha 8 other complex locus constituent Approved 5q31.3 05q31.3 KIAA0345-like 6 Clustered protocadherins 20 2000-06-28 2016-10-24 56140 ENSG00000204962 OTTHUMG00000163354 uc003lhs.2 AF152486 NM_018911 CCDS54919 Q9Y5H6 10380929 MGI:1298367 RGD:620338 606314 HGNC:8674 "ENST00000531613.2|NM_018911.3" +HGNC:8675 PCDHA9 protocadherin alpha 9 other complex locus constituent Approved 5q31.3 05q31.3 "KIAA0345|PCDH-ALPHA9" KIAA0345-like 5 Clustered protocadherins 20 2000-06-28 2016-10-24 9752 ENSG00000204961 OTTHUMG00000163373 uc003lhu.3 AF152487 NM_031857 CCDS54920 Q9Y5H5 10380929 "MGI:1298369|MGI:2681879" RGD:735153 606315 HGNC:8675 "ENST00000532602.2|NM_031857.2" +HGNC:8664 PCDHA10 protocadherin alpha 10 other complex locus constituent Approved 5q31.3 05q31.3 "CNR8|CRNR8|CNRN8|PCDH-ALPHA10" "KIAA0345-like 4|ortholog to mouse CNR8" CNRS8 Clustered protocadherins 20 2000-06-28 2016-10-05 56139 ENSG00000250120 OTTHUMG00000163372 uc003lhx.4 AF152475 NM_018901 "CCDS34255|CCDS75325|CCDS54921" Q9Y5I2 10380929 MGI:2447322 RGD:620749 606316 HGNC:8664 "ENST00000307360.6|NM_018901.4" +HGNC:8665 PCDHA11 protocadherin alpha 11 other complex locus constituent Approved 5q31.3 05q31.3 "CNR7|CRNR7|CNRN7|PCDH-ALPHA11" "KIAA0345-like 3|ortholog of mouse CNR7" CNRS7 Clustered protocadherins 20 2000-06-28 2016-10-05 56138 ENSG00000249158 OTTHUMG00000163369 uc003lia.4 AF152476 NM_018902 "CCDS47284|CCDS75326" Q9Y5I1 "10380929|10662547" MGI:1298372 RGD:1594480 606317 HGNC:8665 "ENST00000398640.7|NM_018902.5" +HGNC:8666 PCDHA12 protocadherin alpha 12 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-ALPHA12 KIAA0345-like 2 Clustered protocadherins 20 2000-06-28 2016-10-05 56137 ENSG00000251664 OTTHUMG00000163366 uc003lic.4 AF152477 NM_018903 "CCDS75327|CCDS47285" Q9UN75 10380929 MGI:2447322 RGD:620750 606318 HGNC:8666 "ENST00000398631.3|NM_018903.4" +HGNC:8667 PCDHA13 protocadherin alpha 13 other complex locus constituent Approved 5q31.3 05q31.3 "CNR5|CRNR5|CNRN5|PCDH-ALPHA13" "KIAA0345-like 1|ortholog of mouse CNR5" CNRS5 Clustered protocadherins 20 2000-06-28 2016-10-05 56136 ENSG00000239389 OTTHUMG00000129614 uc003lie.2 AF152478 NM_018904 CCDS4240 Q9Y5I0 "10380929|10662547" MGI:1298370 RGD:620751 606319 HGNC:8667 "ENST00000289272.3|NM_018904.3" +HGNC:2163 PCDHA14 protocadherin alpha 14 pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 "CNR3|CRNR3|PCDH-PSI4" CNRS3 protocadherin gamma subfamily A 14 pseudogene Clustered protocadherins 20 1999-11-26 2003-09-24 2012-02-29 26307 ENSG00000249504 OTTHUMG00000163355 AY013875 NG_000016 "10662547|11230163" HGNC:2163 +HGNC:8676 PCDHAC1 protocadherin alpha subfamily C, 1 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-ALPHA-C1 Clustered protocadherins 20 2000-06-28 2016-10-05 56135 ENSG00000248383 OTTHUMG00000129603 uc003lih.3 AF152473 NM_018898 CCDS4241 Q9H158 10380929 MGI:1891442 RGD:735086 606320 HGNC:8676 "ENST00000253807.3|NM_018898.5" +HGNC:8677 PCDHAC2 protocadherin alpha subfamily C, 2 other complex locus constituent Approved 5q31.3 05q31.3 PCDH-ALPHA-C2 Clustered protocadherins 20 2000-06-28 2016-10-05 56134 ENSG00000243232 OTTHUMG00000129607 uc003lii.4 AF152474 NM_018899 CCDS4242 Q9Y5I4 10380929 MGI:1891443 RGD:735216 606321 HGNC:8677 "ENST00000289269.7|NM_018899.6" +HGNC:8678 PCDHACT protocadherin alpha constant other complex locus constituent Approved 5q31 05q31 PCDHAC Clustered protocadherins 20 2000-06-28 2010-11-26 56119 NG_000016 "10380929|10662547" HGNC:8678 +HGNC:8679 PCDHB@ protocadherin beta cluster protein-coding gene gene with protein product Approved 5q31 05q31 PCDH3 Clustered protocadherins 20 2000-06-28 2015-01-20 56116 NG_000017 10380929 604967 HGNC:8679 +HGNC:8680 PCDHB1 protocadherin beta 1 other protocadherin Approved 5q31.3 05q31.3 PCDH-BETA1 Clustered protocadherins 20 2000-06-28 2016-10-05 29930 ENSG00000171815 OTTHUMG00000129627 uc003lik.3 AF152488 NM_013340 CCDS4243 Q9Y5F3 10380929 MGI:2136730 RGD:1308760 606327 HGNC:8680 "ENST00000306549.6|NM_013340.4" +HGNC:56111 PCDHB1-AS1 PCDHB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 Antisense RNAs 1987 2022-01-07 2022-01-07 101926905 ENSG00000279047 NR_105056 +HGNC:8687 PCDHB2 protocadherin beta 2 other protocadherin Approved 5q31.3 05q31.3 PCDH-BETA2 Clustered protocadherins 20 2000-06-28 2016-10-05 56133 ENSG00000112852 OTTHUMG00000129606 uc003lil.5 AF152495 NM_018936 CCDS4244 Q9Y5E7 10380929 MGI:2136735 RGD:1563132 606328 HGNC:8687 "ENST00000194155.7|NM_018936.4" +HGNC:8688 PCDHB3 protocadherin beta 3 other protocadherin Approved 5q31.3 05q31.3 PCDH-BETA3 Clustered protocadherins 20 2000-06-28 2016-10-05 56132 ENSG00000113205 OTTHUMG00000129622 uc003lio.5 AF152496 NM_018937 CCDS4245 Q9Y5E6 10380929 MGI:2136737 RGD:1305171 606329 HGNC:8688 "ENST00000231130.3|NM_018937.5" +HGNC:8689 PCDHB4 protocadherin beta 4 other protocadherin Approved 5q31.3 05q31.3 PCDH-BETA4 Clustered protocadherins 20 2000-06-28 2016-10-05 56131 ENSG00000081818 OTTHUMG00000129617 uc003lip.3 AF152497 NM_018938 CCDS4246 Q9Y5E5 10380929 "MGI:2136739|MGI:2136741|MGI:2136744" RGD:1304665 606330 HGNC:8689 "ENST00000194152.4|NM_018938.4" +HGNC:8690 PCDHB5 protocadherin beta 5 other protocadherin Approved 5q31.3 05q31.3 "DKFZp586B0217|PCDH-BETA5" Clustered protocadherins 20 2000-06-28 2016-10-05 26167 ENSG00000113209 OTTHUMG00000129616 uc003liq.5 AF152498 NM_015669 CCDS4247 Q9Y5E4 10380929 "MGI:2136738|MGI:2136740|MGI:2136742|MGI:2136745|MGI:2136746|MGI:2136747" RGD:1309895 606331 HGNC:8690 "ENST00000231134.8|NM_015669.5" +HGNC:8691 PCDHB6 protocadherin beta 6 other protocadherin Approved 5q31.3 05q31.3 PCDH-BETA6 Clustered protocadherins 20 2000-06-28 2016-10-05 56130 ENSG00000113211 OTTHUMG00000129623 uc003lir.4 AF152499 NM_018939 "CCDS78067|CCDS4248" Q9Y5E3 10380929 MGI:2136748 RGD:11376545 606332 HGNC:8691 "ENST00000231136.4|NM_018939.4" +HGNC:8692 PCDHB7 protocadherin beta 7 other protocadherin Approved 5q31.3 05q31.3 PCDH-BETA7 Clustered protocadherins 20 2000-06-28 2016-10-05 56129 ENSG00000113212 OTTHUMG00000129608 uc003lit.5 AF152500 NM_018940 CCDS4249 Q9Y5E2 10380929 MGI:2136750 RGD:1305811 606333 HGNC:8692 "ENST00000231137.6|NM_018940.4" +HGNC:8693 PCDHB8 protocadherin beta 8 other protocadherin Approved 5q31.3 05q31.3 "PCDH-BETA8|PCDH3I" Clustered protocadherins 20 2000-06-28 2016-10-05 56128 ENSG00000120322 OTTHUMG00000129621 uc011dai.3 AF152501 NM_019120 CCDS4250 Q9UN66 10380929 MGI:2136752 606334 HGNC:8693 "ENST00000239444.4|NM_019120.5" +HGNC:8694 PCDHB9 protocadherin beta 9 other protocadherin Approved 5q31.3 05q31.3 "PCDH-BETA9|PCDH3H" protocadherin-3h Clustered protocadherins 20 2000-06-28 2016-10-25 56127 ENSG00000177839 OTTHUMG00000188326 uc032vnm.2 AF152502 NM_019119 CCDS75328 Q9Y5E1 10380929 MGI:2136756 RGD:1305349 606335 HGNC:8694 "ENST00000316105.7|NM_019119.5" +HGNC:8681 PCDHB10 protocadherin beta 10 other protocadherin Approved 5q31.3 05q31.3 Clustered protocadherins 20 2000-06-28 2014-11-19 56126 ENSG00000120324 OTTHUMG00000129626 uc284pxq.1 AF152489 NM_018930 CCDS4252 Q9UN67 10380929 MGI:2136756 606336 HGNC:8681 "ENST00000239446.6|NM_018930.4" +HGNC:8682 PCDHB11 protocadherin beta 11 other protocadherin Approved 5q31.3 05q31.3 "PCDH-BETA11|ME2" cadherin ME2 Clustered protocadherins 20 2000-06-28 2016-10-05 56125 ENSG00000197479 OTTHUMG00000129618 uc003liy.4 AF152490 NM_018931 CCDS4253 Q9Y5F2 10380929 MGI:2136757 606337 HGNC:8682 "ENST00000354757.5|NM_018931.3" +HGNC:8683 PCDHB12 protocadherin beta 12 other protocadherin Approved 5q31.3 05q31.3 PCDH-BETA12 Clustered protocadherins 20 2000-06-28 2016-10-05 56124 ENSG00000120328 OTTHUMG00000129620 uc003liz.4 AF152491 NM_018932 CCDS4254 Q9Y5F1 10380929 MGI:2136757 RGD:1549697 606338 HGNC:8683 "ENST00000239450.4|NM_018932.4" +HGNC:8684 PCDHB13 protocadherin beta 13 other protocadherin Approved 5q31.3 05q31.3 PCDH-BETA13 Clustered protocadherins 20 2000-06-28 2016-10-05 56123 ENSG00000187372 OTTHUMG00000129615 uc003lja.3 AF152492 NM_018933 CCDS4255 Q9Y5F0 10380929 MGI:2136752 606339 HGNC:8684 "ENST00000341948.6|NM_018933.4" +HGNC:8685 PCDHB14 protocadherin beta 14 other protocadherin Approved 5q31.3 05q31.3 PCDH-BETA14 Clustered protocadherins 20 2000-06-28 2016-10-05 56122 ENSG00000120327 OTTHUMG00000129619 uc003ljb.5 AF152493 NM_018934 CCDS4256 Q9Y5E9 10380929 MGI:2136758 RGD:1594228 606340 HGNC:8685 "ENST00000239449.7|NM_018934.4" +HGNC:8686 PCDHB15 protocadherin beta 15 other protocadherin Approved 5q31.3 05q31.3 PCDH-BETA15 Clustered protocadherins 20 2000-06-28 2016-10-05 56121 ENSG00000113248 OTTHUMG00000129609 uc003lje.5 AF152494 NM_018935 CCDS4257 Q9Y5E8 10380929 MGI:2136760 RGD:1310328 606341 HGNC:8686 "ENST00000231173.6|NM_018935.4" +HGNC:14546 PCDHB16 protocadherin beta 16 other protocadherin Approved 5q31.3 05q31.3 "PCDHB8a|PCDH3X|KIAA1621|PCDH-BETA16|ME1" "cadherin ME1|protocadherin-3x|PCDHbeta 16" Clustered protocadherins 20 2001-05-14 2016-10-05 57717 ENSG00000272674 OTTHUMG00000188325 uc032vnl.2 AF217757 NM_020957 CCDS4251 Q9NRJ7 "11230163|11322959" MGI:2136754 RGD:11492646 606345 HGNC:14546 "ENST00000609684.3|NM_020957.4" +HGNC:14547 PCDHB17P protocadherin beta 17 pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 PCDH-psi1 PCDHB17 Clustered protocadherins 20 2001-02-01 2015-01-20 2015-01-20 54661 ENSG00000255622 OTTHUMG00000187247 AF152527 NR_001280 10380929 PGOHUM00000301139 HGNC:14547 +HGNC:14548 PCDHB18P protocadherin beta 18 pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 PCDH-psi2 PCDHB18 Clustered protocadherins 20 2001-02-01 2015-01-20 2015-01-20 54660 ENSG00000146001 OTTHUMG00000167484 AF152528 NR_001281 Q96TA0 10380929 MGI:2136759 PGOHUM00000258203 HGNC:14548 +HGNC:14549 PCDHB19P protocadherin beta 19 pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 PCDH-PSI5 Clustered protocadherins 20 2001-05-14 2015-01-20 84054 ENSG00000262096 OTTHUMG00000177851 AF329369 NR_001282 "11322959|11230163" PGOHUM00000301141 HGNC:14549 +HGNC:8695 PCDHG@ protocadherin gamma cluster protein-coding gene gene with protein product Approved 5q31 05q31 "PCDH2|PCDH4" Clustered protocadherins 20 2000-06-28 2011-03-28 56115 NG_000012 10380929 604968 HGNC:8695 +HGNC:8696 PCDHGA1 protocadherin gamma subfamily A, 1 other protocadherin Approved 5q31 05q31 PCDH-GAMMA-A1 Clustered protocadherins 20 2000-06-28 2014-11-19 56114 ENSG00000204956 OTTHUMG00000163678 uc003lji.2 AF152318 NM_018912 CCDS54922 Q9Y5H4 10380929 RGD:1590761 606288 HGNC:8696 "ENST00000517417.3|NM_018912.3" +HGNC:8700 PCDHGA2 protocadherin gamma subfamily A, 2 other protocadherin Approved 5q31.3 05q31.3 PCDH-GAMMA-A2 Clustered protocadherins 20 2000-06-28 2016-10-05 56113 ENSG00000081853 OTTHUMG00000163679 uc003ljk.4 AF152508 NM_018915 CCDS47289 Q9Y5H1 10380929 RGD:1587259 606289 470836 HGNC:8700 "ENST00000394576.3|NM_018915.4" +HGNC:8701 PCDHGA3 protocadherin gamma subfamily A, 3 other protocadherin Approved 5q31.3 05q31.3 PCDH-GAMMA-A3 Clustered protocadherins 20 2000-06-28 2016-10-05 56112 ENSG00000254245 OTTHUMG00000163680 uc003ljm.3 AF152510 NM_018916 "CCDS47290|CCDS75329" Q9Y5H0 10380929 MGI:1935215 RGD:1598664 606290 HGNC:8701 "ENST00000253812.8|NM_018916.4" +HGNC:8702 PCDHGA4 protocadherin gamma subfamily A, 4 other protocadherin Approved 5q31 05q31 PCDH-GAMMA-A4 Clustered protocadherins 20 2000-06-28 2016-04-25 56111 ENSG00000262576 OTTHUMG00000177593 uc003ljq.4 AF152511 NM_018917 "CCDS75331|CCDS58979" Q9Y5G9 10380929 MGI:1935216 606291 HGNC:8702 "ENST00000571252.3|NM_018917.4" +HGNC:8703 PCDHGA5 protocadherin gamma subfamily A, 5 other protocadherin Approved 5q31 05q31 "CDH-GAMMA-A5|ME3|PCDH-GAMMA-A5" cadherin ME3 Clustered protocadherins 20 2000-06-28 2014-11-19 56110 ENSG00000253485 OTTHUMG00000163683 uc003lju.3 AF152512 NM_018918 "CCDS54925|CCDS75333" Q9Y5G8 10380929 RGD:1311949 606292 HGNC:8703 "ENST00000518069.2|NM_018918.3" +HGNC:8704 PCDHGA6 protocadherin gamma subfamily A, 6 other protocadherin Approved 5q31 05q31 PCDH-GAMMA-A6 Clustered protocadherins 20 2000-06-28 2014-11-19 56109 ENSG00000253731 OTTHUMG00000163684 uc003ljy.3 AF152513 NM_018919 "CCDS75335|CCDS54926" Q9Y5G7 10380929 MGI:1935218 RGD:7625105 606293 HGNC:8704 "ENST00000517434.3|NM_018919.3" +HGNC:8705 PCDHGA7 protocadherin gamma subfamily A, 7 other protocadherin Approved 5q31 05q31 PCDH-GAMMA-A7 Clustered protocadherins 20 2000-06-28 2014-11-19 56108 ENSG00000253537 OTTHUMG00000163685 uc003lka.4 AF152514 NM_018920 "CCDS75336|CCDS54927" Q9Y5G6 10380929 MGI:1935219 RGD:1305108 606294 HGNC:8705 "ENST00000518325.2|NM_018920.4" +HGNC:8706 PCDHGA8 protocadherin gamma subfamily A, 8 other protocadherin Approved 5q31.3 05q31.3 "KIAA0327|PCDH-GAMMA-A8" Clustered protocadherins 20 2000-06-28 2016-10-05 9708 ENSG00000253767 OTTHUMG00000164053 uc003lkd.3 AF152515 NM_032088 "CCDS75338|CCDS47291" Q9Y5G5 10380929 RGD:1310676 606295 HGNC:8706 "ENST00000398604.3|NM_032088.2" +HGNC:8707 PCDHGA9 protocadherin gamma subfamily A, 9 other protocadherin Approved 5q31 05q31 PCDH-GAMMA-A9 Clustered protocadherins 20 2000-06-28 2014-11-19 56107 ENSG00000261934 OTTHUMG00000177473 uc003lkh.3 AF152516 NM_018921 "CCDS75341|CCDS58981" Q9Y5G4 10380929 MGI:1935226 RGD:620729 606296 HGNC:8707 "ENST00000573521.2|NM_018921.3" +HGNC:8697 PCDHGA10 protocadherin gamma subfamily A, 10 other protocadherin Approved 5q31.3 05q31.3 PCDH-GAMMA-A10 Clustered protocadherins 20 2000-06-28 2016-10-05 56106 ENSG00000253846 OTTHUMG00000163688 uc003lkl.3 NM_018913 "CCDS47292|CCDS75343" Q9Y5H3 10380929 MGI:1935227 RGD:1308289 606297 HGNC:8697 "ENST00000398610.3|NM_018913.3" +HGNC:8698 PCDHGA11 protocadherin gamma subfamily A, 11 other protocadherin Approved 5q31.3 05q31.3 PCDH-GAMMA-A11 Clustered protocadherins 20 2000-06-28 2016-10-05 56105 ENSG00000253873 OTTHUMG00000164055 uc003lkq.3 AF152505 NM_018914 "CCDS75345|CCDS54930|CCDS47294" Q9Y5H2 10380929 MGI:1935228 RGD:621232 606298 HGNC:8698 "ENST00000398587.7|NM_018914.3" +HGNC:8699 PCDHGA12 protocadherin gamma subfamily A, 12 other protocadherin Approved 5q31.3 05q31.3 "KIAA0588|FIB3|PCDH-GAMMA-A12" fibroblast cadherin FIB3 CDH21 cadherin 21 Clustered protocadherins 20 2000-06-28 2002-05-23 2016-10-05 26025 ENSG00000253159 OTTHUMG00000129611 uc003lkt.3 AF152506 NM_003735 "CCDS75346|CCDS4260" O60330 10380929 MGI:1935229 603059 HGNC:8699 "ENST00000252085.4|NM_003735.3" +HGNC:8708 PCDHGB1 protocadherin gamma subfamily B, 1 other protocadherin Approved 5q31 05q31 PCDH-GAMMA-B1 protocadherin gamma subfamily B, 1, isoform 2 Clustered protocadherins 20 2000-06-28 2019-02-07 56104 ENSG00000254221 OTTHUMG00000163681 uc003ljo.3 AF152517 NM_018922 "CCDS54923|CCDS75330" Q9Y5G3 10380929 MGI:1935169 RGD:1560482 606299 HGNC:8708 "ENST00000523390.2|NM_018922.3" +HGNC:8709 PCDHGB2 protocadherin gamma subfamily B, 2 other protocadherin Approved 5q31 05q31 PCDH-GAMMA-B2 Clustered protocadherins 20 2000-06-28 2014-11-19 56103 ENSG00000253910 OTTHUMG00000163682 uc003ljs.3 AF152331 NM_018923 "CCDS75332|CCDS54924" Q9Y5G2 10380929 MGI:1935170 606300 HGNC:8709 "ENST00000522605.2|NM_018923.3" +HGNC:8710 PCDHGB3 protocadherin gamma subfamily B, 3 other protocadherin Approved 5q31 05q31 PCDH-GAMMA-B3 Clustered protocadherins 20 2000-06-28 2014-11-19 56102 ENSG00000262209 OTTHUMG00000177471 uc011dat.2 AF152519 NM_018924 "CCDS75334|CCDS58980" Q9Y5G1 10380929 RGD:1307432 606301 HGNC:8710 "ENST00000576222.2|NM_018924.5" +HGNC:8711 PCDHGB4 protocadherin gamma subfamily B, 4 other protocadherin Approved 5q31 05q31 "FIB2|CDH20|PCDH-GAMMA-B4" "fibroblast cadherin FIB2|cadherin 20" Clustered protocadherins 20 2000-06-28 2014-11-19 8641 ENSG00000253953 OTTHUMG00000163686 uc003lkc.3 AF152520 NM_003736 "CCDS75337|CCDS54928" Q9UN71 10380929 MGI:1935173 RGD:7632725 603058 HGNC:8711 "ENST00000519479.2|NM_003736.4" +HGNC:8712 PCDHGB5 protocadherin gamma subfamily B, 5 other protocadherin Approved 5q31 05q31 PCDH-GAMMA-B5 Clustered protocadherins 20 2000-06-28 2014-11-19 56101 ENSG00000276547 OTTHUMG00000188231 uc003lkf.3 AF152521 NM_018925 "CCDS75340|CCDS75339" Q9Y5G0 10380929 MGI:1935196 RGD:1591752 606302 HGNC:8712 "ENST00000617380.2|NM_018925.3" +HGNC:8713 PCDHGB6 protocadherin gamma subfamily B, 6 other protocadherin Approved 5q31 05q31 PCDH-GAMMA-B6 Clustered protocadherins 20 2000-06-28 2014-11-19 56100 ENSG00000253305 OTTHUMG00000163687 uc003lkj.3 AF152522 NM_018926 "CCDS75342|CCDS54929" Q9Y5F9 10380929 RGD:7743693 606303 HGNC:8713 "ENST00000520790.2|NM_018926.3" +HGNC:8714 PCDHGB7 protocadherin gamma subfamily B, 7 other protocadherin Approved 5q31.3 05q31.3 "ME6|PCDH-GAMMA-B7" cadherin ME6 Clustered protocadherins 20 2000-06-28 2016-10-05 56099 ENSG00000254122 OTTHUMG00000164054 uc003lkn.3 AF152523 NM_018927 "CCDS75344|CCDS47293" Q9Y5F8 10380929 RGD:1588516 606304 HGNC:8714 "ENST00000398594.4|NM_018927.4" +HGNC:8715 PCDHGB8P protocadherin gamma subfamily B, 8 pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 PCDH-PSI3 Clustered protocadherins 20 2000-06-28 2019-12-17 56120 ENSG00000248449 OTTHUMG00000154974 AF152529 NR_001297 10380929 MGI:1935200 PGOHUM00000257130 HGNC:8715 +HGNC:15688 PCDHGB9P protocadherin gamma subfamily B, 9 pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 PSI6 Clustered protocadherins 20 2001-05-14 2017-10-30 84055 ENSG00000276545 OTTHUMG00000188233 AY013877 NG_029268 11230163 PGOHUM00000301146 HGNC:15688 +HGNC:8716 PCDHGC3 protocadherin gamma subfamily C, 3 other protocadherin Approved 5q31.3 05q31.3 "PC-43|PC43|PCDH-GAMMA-C3" "cadherin-like 2|protocadherin 2|protocadherin 43" PCDH2 Clustered protocadherins 20 2000-08-22 2016-10-05 5098 ENSG00000240184 OTTHUMG00000129613 uc003lkv.3 AF152337 NM_002588 "CCDS75348|CCDS75347|CCDS4261" Q9UN70 "9360932|8508762" MGI:1935201 RGD:620746 603627 HGNC:8716 "ENST00000308177.5|NM_002588.4" +HGNC:8717 PCDHGC4 protocadherin gamma subfamily C, 4 other protocadherin Approved 5q31.3 05q31.3 PCDH-GAMMA-C4 Clustered protocadherins 20 2000-06-28 2016-10-05 56098 ENSG00000242419 OTTHUMG00000129625 uc003lky.3 AF152525 NM_018928 "CCDS4262|CCDS75349" Q9Y5F7 10380929 606305 HGNC:8717 "ENST00000306593.2|NM_018928.3" +HGNC:8718 PCDHGC5 protocadherin gamma subfamily C, 5 other protocadherin Approved 5q31.3 05q31.3 PCDH-GAMMA-C5 Clustered protocadherins 20 2000-06-28 2016-10-05 56097 ENSG00000240764 OTTHUMG00000129624 uc003lla.3 AF152526 NM_018929 "CCDS4263|CCDS75350" Q9Y5F6 10380929 MGI:1935205 RGD:2312582 606306 HGNC:8718 "ENST00000252087.3|NM_018929.3" +HGNC:8719 PCDHGCT protocadherin gamma constant other protocadherin Approved 5q31 05q31 PCDHGC Clustered protocadherins 20 2000-06-28 2010-01-26 56118 10380929 +HGNC:16212 PCED1A PC-esterase domain containing 1A protein-coding gene gene with protein product Approved 20p13 20p13 "bA12M19.1|FLJ22376" "C20orf81|FAM113A" "chromosome 20 open reading frame 81|family with sequence similarity 113, member A" 2001-07-17 2012-06-11 2012-06-11 2014-11-19 64773 ENSG00000132635 OTTHUMG00000031716 uc002wgz.3 AK026029 NM_022760 "CCDS13035|CCDS59442" Q9H1Q7 20056006 MGI:2442177 RGD:1308836 HGNC:16212 "ENST00000360652.7|NM_022760.6" +HGNC:28255 PCED1B PC-esterase domain containing 1B protein-coding gene gene with protein product Approved 12q13.11 12q13.11 MGC16044 FAM113B family with sequence similarity 113, member B MicroRNA protein coding host genes 1691 2006-02-10 2012-06-11 2012-06-11 2014-11-19 91523 ENSG00000179715 OTTHUMG00000169617 uc021qxi.3 BC016154 NM_138371 CCDS8752 Q96HM7 20056006 MGI:2446270 RGD:1561028 HGNC:28255 "ENST00000546455.6|NM_138371.3" +HGNC:44166 PCED1B-AS1 PCED1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.11 12q13.11 PCED1B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2019-01-10 100233209 ENSG00000247774 OTTHUMG00000169619 uc058nab.1 AK123977 NR_026544 30621915 PCED1B-AS1 HGNC:44166 +HGNC:44083 PCED1CP PC-esterase domain containing 1C, pseudogene pseudogene pseudogene Approved 2q34 02q34 2012-06-11 2012-06-11 2012-06-11 646249 ENSG00000231254 OTTHUMG00000154768 NG_022894 PGOHUM00000241104 HGNC:44083 +HGNC:30097 PCF11 PCF11 cleavage and polyadenylation factor subunit protein-coding gene gene with protein product Approved 11q14.1 11q14.1 KIAA0824 "PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)|PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)" 2005-09-10 2019-01-21 2019-01-21 51585 ENSG00000165494 OTTHUMG00000167031 uc001ozx.5 AB020631 NM_015885 CCDS44689 O94913 11060040 MGI:1919579 RGD:1563397 608876 HGNC:30097 +HGNC:52263 PCF11-AS1 PCF11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 ENST00000602322.1 Antisense RNAs 1987 2015-11-04 2017-01-11 2017-01-11 106736475 ENSG00000269939 OTTHUMG00000183952 AK092827 NR_133914 26421281 PCF11-AS1 HGNC:52263 +HGNC:30145 PCGEM1 PCGEM1 prostate-specific transcript non-coding RNA RNA, long non-coding Approved 2q32.3 02q32.3 "NCRNA00071|LINC00071|PCAT9" "non-protein coding RNA 71|long intergenic non-protein coding RNA 71|prostate cancer associated transcript 9|prostate cancer gene expression marker 1" "prostate-specific transcript 1 (non-protein coding)|PCGEM1, prostate-specific transcript (non-protein coding)|PCGEM1, prostate-specific transcript" Long non-coding RNAs with non-systematic symbols 1992 2008-06-04 2019-01-25 2019-02-01 64002 ENSG00000227418 OTTHUMG00000154342 uc002ute.3 AF223389 NR_002769 "11050243|16569192|23459097" 605443 PCGEM1 PCGEM1 HGNC:30145 +HGNC:17615 PCGF1 polycomb group ring finger 1 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "NSPC1|RNF68|MGC10882" "Ring finger proteins|Polycomb group ring fingers" "58|61" 2005-01-17 2014-11-19 84759 ENSG00000115289 OTTHUMG00000129954 uc002slz.4 AF087884 NM_032673 CCDS1946 Q9BSM1 11287196 MGI:1917087 RGD:1549782 610231 HGNC:17615 "ENST00000233630.11|NM_032673.3" +HGNC:12929 PCGF2 polycomb group ring finger 2 protein-coding gene gene with protein product Approved 17q12 17q12 MEL-18 "ZNF144|RNF110" ring finger protein 110 "Ring finger proteins|Polycomb group ring fingers" "58|61" 1993-11-01 2005-01-19 2005-01-17 2020-04-01 7703 ENSG00000277258 OTTHUMG00000188501 uc060eng.1 D13969 NM_007144 CCDS32638 P35227 8325509 MGI:99161 RGD:1305097 600346 470838 HGNC:12929 "ENST00000620225.5|NM_007144.3" HGNC:12929 +HGNC:10066 PCGF3 polycomb group ring finger 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ36550|DONG1|RNF3A|MGC40413" RNF3 ring finger protein 3 "Ring finger proteins|Polycomb group ring fingers" "58|61" 1997-07-01 2005-01-19 2005-01-17 2014-11-19 10336 ENSG00000185619 OTTHUMG00000119000 uc003gbe.4 AK093869 NM_006315 CCDS3339 Q3KNV8 MGI:1916837 RGD:1311479 617543 HGNC:10066 +HGNC:56108 PCGF3-AS1 PCGF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 Antisense RNAs 1987 2022-01-06 2022-01-06 100129917 ENSG00000249592 NR_036511 +HGNC:28264 PCGF5 polycomb group ring finger 5 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 MGC16202 RNF159 ring finger protein (C3HC4 type) 159 "Ring finger proteins|Polycomb group ring fingers" "58|61" 2004-04-16 2005-01-19 2005-01-17 2016-10-05 84333 ENSG00000180628 OTTHUMG00000018740 uc001khh.5 AL832003 NM_032373 CCDS7413 Q86SE9 8076819 MGI:1923505 RGD:1583513 617407 HGNC:28264 "ENST00000336126.6|NM_032373.5" +HGNC:21156 PCGF6 polycomb group ring finger 6 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 MBLR RNF134 ring finger protein 134 "Ring finger proteins|Polycomb group ring fingers" "58|61" 2003-05-21 2005-01-19 2005-01-17 2015-08-25 84108 ENSG00000156374 OTTHUMG00000018982 uc001kwt.3 AB047006 NM_032154 "CCDS7546|CCDS31275" Q9BYE7 12167161 MGI:1918291 RGD:1306904 607816 HGNC:21156 "ENST00000369847.4|NM_001011663.2" +HGNC:30341 PCGF7P polycomb group ring finger 7 pseudogene pseudogene pseudogene Approved 19p12 19p12 RNF134P1 ring finger protein 134 pseudogene 1 "Ring finger proteins|Polycomb group ring fingers" "58|61" 2004-04-22 2005-01-19 2005-01-17 2016-07-25 253272 ENSG00000268140 OTTHUMG00000182931 AC073539 NG_003076 PGOHUM00000295290 HGNC:30341 +HGNC:25653 PCID2 PCI domain containing 2 protein-coding gene gene with protein product Approved 13q34 13q34 FLJ11305 Transcription and export complex 2 1276 2006-03-31 2018-06-04 55795 ENSG00000126226 OTTHUMG00000017385 uc058yls.1 AK002167 NM_018386 "CCDS58302|CCDS9532|CCDS58301" Q5JVF3 24896180 MGI:2443003 RGD:1307041 613713 HGNC:25653 "ENST00000337344.9|NM_001127202.4" +HGNC:16200 PCIF1 phosphorylated CTD interacting factor 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "bA465L10.1|PPP1R121|CAPAM" "protein phosphatase 1, regulatory subunit 121|cap-specific adenosine methyltransferase'" C20orf67 "chromosome 20 open reading frame 67|PDX1 C-terminal inhibiting factor 1" "Protein phosphatase 1 regulatory subunits|7BS N6-adenosine DNA/RNA methyltransferases" "694|2061" 2001-07-17 2008-04-29 2020-08-25 2020-09-01 63935 ENSG00000100982 OTTHUMG00000032635 uc002xqs.4 AB050014 NM_022104 CCDS13388 Q9H4Z3 12565871 MGI:2443858 RGD:1310800 618626 HGNC:16200 "ENST00000372409.8|NM_022104.4" +HGNC:8724 PCK1 phosphoenolpyruvate carboxykinase 1 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 PEPCK-C phosphoenolpyruvate carboxykinase 1 (soluble) 1990-09-10 2015-12-16 2021-05-26 5105 ENSG00000124253 OTTHUMG00000032825 uc002xyn.5 NM_002591 CCDS13460 P35558 1492743 MGI:97501 RGD:3267 614168 124123 4.1.1.32 HGNC:8724 "ENST00000319441.6|NM_002591.4" HGNC:8724 +HGNC:8725 PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial protein-coding gene gene with protein product Approved 14q11.2-q12 14q11.2-q12 "PEPCK|PEPCK2" phosphoenolpyruvate carboxykinase 2 (mitochondrial) 1993-03-04 2016-02-26 2018-02-13 5106 ENSG00000100889 OTTHUMG00000028791 uc001wlt.4 AK129934 NM_001018073 "CCDS41928|CCDS9609|CCDS76660" Q16822 "8645161|9657976" MGI:1860456 RGD:1311112 614095 124125 4.1.1.32 HGNC:8725 "ENST00000216780.9|NM_004563.4" HGNC:8725 +HGNC:28961 PCLAF PCNA clamp associated factor protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "NS5ATP9|OEATC-1|p15(PAF)|PAF15" PCNA-associated factor KIAA0101 KIAA0101 2004-06-24 2016-11-11 2016-11-11 2016-11-11 9768 ENSG00000166803 OTTHUMG00000133017 uc002ank.5 D14657 NM_014736 "CCDS32269|CCDS10193" Q15004 "11313979|16288740" MGI:1915276 RGD:1303041 610696 HGNC:28961 "ENST00000300035.9|NM_014736.6" +HGNC:13406 PCLO piccolo presynaptic cytomatrix protein protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "KIAA0559|DKFZp779G1236|ACZ" aczonin piccolo (presynaptic cytomatrix protein) "C2 domain containing|PDZ domain containing|Zinc fingers PCLO-type" "823|1220|2125" 2001-06-25 2013-01-07 2021-05-26 27445 ENSG00000186472 OTTHUMG00000154853 uc003uhx.3 AB011131 NM_014510 "CCDS47630|CCDS47631" Q9Y6V0 "8900486|9628581" MGI:1349390 RGD:69406 604918 431917 HGNC:13406 "ENST00000333891.14|NM_033026.6" HGNC:13406 +HGNC:8727 PCM1 pericentriolar material 1 protein-coding gene gene with protein product Approved 8p22 08p22 PTC4 1994-09-30 2016-10-05 5108 ENSG00000078674 OTTHUMG00000163699 uc003wyi.5 NM_006197 "CCDS83255|CCDS47812|CCDS87582|CCDS83256" Q15154 "8120099|15659651" MGI:1277958 RGD:620901 PCM1 600299 124129 HGNC:8727 "ENST00000325083.13|NM_006197.4" +HGNC:8728 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase protein-coding gene gene with protein product Approved 6q25.1 06q25.1 7BS protein methyltransferases 2058 1992-09-11 2017-11-27 5110 ENSG00000120265 OTTHUMG00000015794 uc003qne.4 NM_001252049 "CCDS75534|CCDS5219|CCDS75533" P22061 "1478665|10343128" MGI:97502 RGD:3268 176851 470840 2.1.1.77 HGNC:8728 "ENST00000464889.7|NM_001360452.2" +HGNC:30483 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 FLJ10883 7BS protein methyltransferases 2058 2005-10-06 2014-11-18 115294 ENSG00000168300 OTTHUMG00000164246 uc064msu.1 NM_052937 "CCDS6148|CCDS69480" Q96MG8 MGI:2441773 RGD:1586096 HGNC:30483 "ENST00000522514.6|NM_052937.4" +HGNC:55791 PCMTD1-DT PCMTD1 divergent transcript non-coding RNA RNA, long non-coding Approved 8q11.23 08q11.23 Divergent transcripts 1990 2021-07-28 2021-07-28 102724330 ENSG00000228801 +HGNC:38804 PCMTD1P1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-08-05 2015-05-18 100874520 ENSG00000226061 OTTHUMG00000041613 NG_032219 PGOHUM00000305636 HGNC:38804 +HGNC:38805 PCMTD1P2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 2010-08-05 2015-05-18 100287647 ENSG00000260087 OTTHUMG00000176376 NG_028879 PGOHUM00000293824 HGNC:38805 +HGNC:38806 PCMTD1P3 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 3 pseudogene pseudogene Approved 7p15.3 07p15.3 2010-08-05 2015-05-18 100422595 ENSG00000234800 OTTHUMG00000152551 NG_026445 PGOHUM00000302071 HGNC:38806 +HGNC:51748 PCMTD1P4 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 4 pseudogene pseudogene Approved 22p11.2 22p11.2 2015-05-18 2015-05-18 107105258 NG_046576 PGOHUM00000297399 HGNC:51748 +HGNC:51749 PCMTD1P5 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 5 pseudogene pseudogene Approved 22p11.2 22p11.2 2015-05-18 2015-05-18 107105260 NG_046578 PGOHUM00000297578 HGNC:51749 +HGNC:51750 PCMTD1P6 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 6 pseudogene pseudogene Approved 14p11.2 14p11.2 2015-05-18 2015-05-18 107105255 NG_046573 PGOHUM00000292534 HGNC:51750 +HGNC:51751 PCMTD1P7 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 7 pseudogene pseudogene Approved 20q11.1 20q11.1 2015-05-18 2016-11-09 107080553 ENSG00000282949 OTTHUMG00000191529 NG_046382 PGOHUM00000296941 HGNC:51751 +HGNC:51752 PCMTD1P8 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 8 pseudogene pseudogene Approved 20q11.21 20q11.21 2015-05-18 2015-05-18 107105257 NG_046574 PGOHUM00000297102 HGNC:51752 +HGNC:15882 PCMTD2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 FLJ10883 C20orf36 chromosome 20 open reading frame 36 7BS protein methyltransferases 2058 2001-06-21 2005-10-06 2005-10-06 2014-11-18 55251 ENSG00000203880 OTTHUMG00000033029 uc002yil.5 AK001745 NM_018257 "CCDS13559|CCDS46631" Q9NV79 MGI:1923927 RGD:1305684 HGNC:15882 "ENST00000308824.11|NM_018257.3" +HGNC:8729 PCNA proliferating cell nuclear antigen protein-coding gene gene with protein product Approved 20p12.3 20p12.3 1990-01-15 2016-10-05 5111 ENSG00000132646 OTTHUMG00000031798 uc002wlq.4 J04718 NM_002592 CCDS13087 P12004 2565339 MGI:97503 RGD:3269 176740 442672 HGNC:8729 "ENST00000379143.10|NM_182649.2" HGNC:8729 +HGNC:37184 PCNA-AS1 PCNA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 "PCNAAS|PCNA-AS" "PCNA antisense RNA (non-protein coding)|PCNA antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-08-18 2010-11-25 2012-08-15 2018-06-06 100302739 NR_028370 "10488129|24704293" pcna-as1 HGNC:37184 +HGNC:8732 PCNAP1 proliferating cell nuclear antigen pseudogene 1 pseudogene pseudogene Approved 4q23 04q23 p1PCNA 1996-04-17 2019-08-16 359806 ENSG00000249065 OTTHUMG00000161312 D17326 NG_002902 "8995762|22309575|31410212" PGOHUM00000245632 HGNC:8732 +HGNC:8733 PCNAP2 proliferating cell nuclear antigen pseudogene 2 pseudogene pseudogene Approved 4q23 04q23 pF2PCNA 1996-04-17 2014-11-19 359805 D17327 NG_002901 "8995762|22309575" HGNC:8733 +HGNC:43736 PCNAP3 proliferating cell nuclear antigen pseudogene 3 pseudogene pseudogene Approved Xp11.3 Xp11.3 2012-02-13 2012-02-16 392454 ENSG00000214009 OTTHUMG00000021414 NG_022595 22309575 PGOHUM00000241260 HGNC:43736 +HGNC:43737 PCNAP4 proliferating cell nuclear antigen pseudogene 4 pseudogene pseudogene Approved 11p15.1 11p15.1 2012-02-13 2012-02-16 390102 ENSG00000254544 OTTHUMG00000167395 NG_021777 22309575 PGOHUM00000242193 HGNC:43737 +HGNC:30023 PCNP PEST proteolytic signal containing nuclear protein protein-coding gene gene with protein product Approved 3q12.3 03q12.3 2006-03-06 2014-11-19 57092 ENSG00000081154 OTTHUMG00000159108 uc003dva.4 NM_020357 CCDS2942 Q8WW12 12176013 MGI:1923552 RGD:1563775 615210 HGNC:30023 "ENST00000265260.8|NM_020357.3" +HGNC:32440 PCNPP1 PEST containing nuclear protein pseudogene 1 pseudogene pseudogene Approved 12q24.12 12q24.12 PCNPP PEST containing nuclear protein pseudogene 2006-01-05 2011-05-24 2011-05-24 2016-11-09 654427 ENSG00000258359 OTTHUMG00000169601 AC137055 NG_009494 PGOHUM00000291465 HGNC:32440 +HGNC:41974 PCNPP2 PEST containing nuclear protein pseudogene 2 pseudogene pseudogene Approved 9q22.1 09q22.1 2011-05-24 2014-11-18 100128911 ENSG00000225856 OTTHUMG00000020174 NG_029024 PGOHUM00000236252 HGNC:41974 +HGNC:41975 PCNPP3 PEST containing nuclear protein pseudogene 3 pseudogene pseudogene Approved 12q14.3 12q14.3 2011-05-24 2017-03-27 729298 ENSG00000213344 OTTHUMG00000168873 NG_029023 PGOHUM00000291385 HGNC:41975 +HGNC:41976 PCNPP4 PEST containing nuclear protein pseudogene 4 pseudogene pseudogene Approved Xq13.3 Xq13.3 2011-05-24 2014-11-18 100874220 ENSG00000237089 OTTHUMG00000021867 NG_032386 PGOHUM00000241402 HGNC:41976 +HGNC:41977 PCNPP5 PEST containing nuclear protein pseudogene 5 pseudogene pseudogene Approved 13q14.2 13q14.2 2011-05-24 2014-11-19 100507361 ENSG00000177197 OTTHUMG00000016898 NG_009009 PGOHUM00000248395 HGNC:41977 +HGNC:16068 PCNT pericentrin protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KEN|KIAA0402|PCN|PCNTB|SCKL4" "kendrin|Seckel syndrome 4" PCNT2 pericentrin 2 (kendrin) 2001-07-13 2005-11-03 2008-01-30 2014-11-19 5116 ENSG00000160299 OTTHUMG00000090665 uc002zji.4 AB007862 NM_006031 CCDS33592 O95613 "8812505|9455477" MGI:102722 RGD:1595865 605925 159181 HGNC:16068 "ENST00000359568.10|NM_006031.6" HGNC:16068 +HGNC:19740 PCNX1 pecanex 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "KIAA0995|KIAA0805|pecanex" "PCNXL1|PCNX" "pecanex-like 1 (Drosophila)|pecanex homolog 1 (Drosophila)" 2002-11-20 2016-01-18 2018-06-21 2018-06-21 22990 ENSG00000100731 OTTHUMG00000171242 uc001xmo.2 "AF233450|AB018348" NM_014982 "CCDS9806|CCDS76695" Q96RV3 "9244429|15777640" MGI:1891924 RGD:1306115 617655 HGNC:19740 "ENST00000304743.7|NM_014982.3" +HGNC:8736 PCNX2 pecanex 2 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "KIAA0435|FLJ11383" PCNXL2 "pecanex-like 2 (Drosophila)|pecanex homolog 2 (Drosophila)" 1998-10-12 2016-01-18 2018-06-21 2018-06-21 80003 ENSG00000135749 OTTHUMG00000037824 uc001hvl.3 AK055374 NM_014801 CCDS44335 A6NKB5 12477932 MGI:2445010 RGD:1305883 617656 HGNC:8736 "ENST00000258229.14|NM_014801.4" +HGNC:18760 PCNX3 pecanex 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FLJ22427 PCNXL3 "pecanex-like 3 (Drosophila)|pecanex homolog 3 (Drosophila)" MicroRNA protein coding host genes 1691 2002-07-22 2016-01-18 2018-06-21 2018-06-21 399909 ENSG00000197136 OTTHUMG00000166539 uc001oey.3 BX640978 NM_032223 CCDS44650 Q9H6A9 15146197 MGI:1861733 RGD:1305529 617657 HGNC:18760 "ENST00000355703.4|NM_032223.4" +HGNC:20349 PCNX4 pecanex 4 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "C14orf135|PCNXL4" "chromosome 14 open reading frame 135|pecanex-like 4 (Drosophila)|pecanex homolog 4 (Drosophila)" 2003-01-28 2016-01-18 2018-06-21 2018-06-21 64430 ENSG00000126773 OTTHUMG00000150361 uc059ccm.1 AK022861 NM_022495 "CCDS81809|CCDS32091" Q63HM2 MGI:1914958 RGD:1582892 HGNC:20349 "ENST00000406854.6|NM_001330177.2" +HGNC:55447 PCNX4-DT PCNX4 divergent transcript non-coding RNA RNA, long non-coding Approved 14q23.1 14q23.1 Divergent transcripts 1990 2021-01-14 2021-01-14 105370524 ENSG00000258553 XR_007064197 +HGNC:8738 PCOLCE procollagen C-endopeptidase enhancer protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "PCPE|PCPE1" "procollagen, type 1, COOH-terminal proteinase enhancer|procollagen C-proteinase enhancer 1" 1994-03-17 2016-10-05 5118 ENSG00000106333 OTTHUMG00000156675 uc003uvo.5 L33799 NM_002593 CCDS5700 Q15113 "8824813|9799793" MGI:105099 RGD:3270 600270 HGNC:8738 "ENST00000223061.6|NM_002593.4" +HGNC:40430 PCOLCE-AS1 PCOLCE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 PCOLCE antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-19 100129845 ENSG00000224729 OTTHUMG00000156674 uc011kjy.3 AK097705 NR_038910 PCOLCE-AS1 HGNC:40430 +HGNC:8739 PCOLCE2 procollagen C-endopeptidase enhancer 2 protein-coding gene gene with protein product Approved 3q23 03q23 PCPE2 1999-12-01 2016-10-05 26577 ENSG00000163710 OTTHUMG00000159312 uc003evd.4 AF098269 NM_013363 CCDS3127 Q9UKZ9 10873381 MGI:1923727 RGD:1595195 607064 HGNC:8739 "ENST00000295992.8|NM_013363.4" +HGNC:39839 PCOTH prostate and testis expressed opposite C1QTNF9B and MIPEP non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 prostate collagen triple helix C1QTNF9B-AS1 "C1QTNF9B antisense RNA 1 (non-protein coding)|C1QTNF9B antisense RNA 1|Pro-X-Gly collagen triple helix like repeat containing" Long non-coding RNAs with non-systematic symbols 1992 2011-09-05 2017-02-03 2021-06-17 2021-06-17 542767 ENSG00000205861 OTTHUMG00000016571 uc058vxk.1 NR_172510 Q58A44 15930275 617122 HGNC:39839 +HGNC:39840 PCOTHP1 PCOTH pseudogene 1 pseudogene pseudogene Approved 13q12.12 13q12.12 Pro-X-Gly collagen triple helix like repeat containing pseudogene 1 2017-02-03 2021-06-17 2021-06-17 100287275 ENSG00000205850 NG_029247 HGNC:39840 +HGNC:30209 PCP2 Purkinje cell protein 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC41903|GPSM4" 2004-02-03 2020-04-01 126006 ENSG00000174788 OTTHUMG00000182405 uc002mgz.4 BC025387 NM_001271830 "CCDS62521|CCDS32893" Q8IVA1 12399102 MGI:97508 RGD:1306217 619344 HGNC:30209 "ENST00000311069.6|NM_174895.3" +HGNC:8742 PCP4 Purkinje cell protein 4 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 PEP-19 1997-06-09 2014-11-18 5121 ENSG00000183036 OTTHUMG00000086731 uc002yyp.4 "X93349|U53709" NM_006198 CCDS33563 P48539 "8931698|8914602" MGI:97509 RGD:3271 601629 HGNC:8742 "ENST00000328619.10|NM_006198.3" +HGNC:20448 PCP4L1 Purkinje cell protein 4 like 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 IQM1 purkinje cell protein 4 like 1 2006-02-10 2006-02-27 2014-11-18 654790 ENSG00000248485 OTTHUMG00000034340 uc001gad.3 BC028905 NM_001102566 CCDS53412 A6NKN8 MGI:1913675 RGD:1593809 HGNC:20448 "ENST00000504449.2|NM_001102566.2" +HGNC:54485 PCSEAT prostate cancer expressed EZH2 associated transcript non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 PRCAT38 "prostate cancer-associated transcript 38|PCa specific expression and EZH2-associated transcript" Long non-coding RNAs with non-systematic symbols 1992 2019-09-12 2019-09-12 105372808 ENSG00000286027 NR_164474 "29671889|29803673" HGNC:54485 +HGNC:8743 PCSK1 proprotein convertase subtilisin/kexin type 1 protein-coding gene gene with protein product Approved 5q15 05q15 "PC1|PC3|SPC3|PC1/3" "prohormone convertase 3|prohormone convertase 1|proprotein convertase 1/3" NEC1 neuroendocrine convertase 1 Proprotein convertase subtilisin/kexin family 973 1991-06-07 2021-12-07 5122 ENSG00000175426 OTTHUMG00000122089 uc003kls.3 NM_000439 "CCDS54881|CCDS4081" P29120 "1765368|18604207" MGI:97511 RGD:3272 162150 124131 S08.072 objectId:2382 3.4.21.93 HGNC:8743 "ENST00000311106.8|NM_000439.5" HGNC:8743 +HGNC:17301 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "SAAS|SgVIII|SCG8|proSAAS|PEN|BigLEN" Granins 925 2001-11-30 2016-05-09 27344 ENSG00000102109 OTTHUMG00000034502 uc004dkz.6 AF181562 NM_013271 CCDS14307 Q9UHG2 10632593 MGI:1353431 RGD:3617 300399 I49.001 HGNC:17301 "ENST00000218230.6|NM_013271.5" +HGNC:8744 PCSK2 proprotein convertase subtilisin/kexin type 2 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "PC2|SPC2" "neuroendocrine convertase 2|KEX2-like endoprotease 2" NEC2 Proprotein convertase subtilisin/kexin family 973 1991-06-07 2016-10-05 5126 ENSG00000125851 OTTHUMG00000031941 uc002wpm.4 AK312341 NM_002594 "CCDS56179|CCDS13125|CCDS56180" P16519 1765368 MGI:97512 RGD:3273 162151 S08.073 objectId:2383 HGNC:8744 "ENST00000262545.7|NM_002594.5" +HGNC:8746 PCSK4 proprotein convertase subtilisin/kexin type 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PC4|SPC5|DKFZp434B217|MGC34749" Proprotein convertase subtilisin/kexin family 973 1993-10-19 2015-09-03 54760 ENSG00000115257 OTTHUMG00000128541 uc002ltb.3 AK057235 NM_017573 CCDS12069 Q6UW60 7782070 MGI:97514 RGD:620325 600487 S08.074 objectId:2384 HGNC:8746 +HGNC:8747 PCSK5 proprotein convertase subtilisin/kexin type 5 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "PC5|PC6|SPC6" Proprotein convertase subtilisin/kexin family 973 1993-10-19 2015-09-03 5125 ENSG00000099139 OTTHUMG00000020039 uc004ajz.5 NM_001190482 "CCDS55320|CCDS6652" Q92824 7782070 MGI:97515 RGD:620326 600488 470842 S08.076 objectId:2385 HGNC:8747 "ENST00000674117.1|NM_001372043.1" +HGNC:8569 PCSK6 proprotein convertase subtilisin/kexin type 6 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 SPC4 "subtilisin-like protease|subtilisin-like proprotein convertase 4|subtilisin/kexin-like protease PACE4" PACE4 paired basic amino acid cleaving system 4 Proprotein convertase subtilisin/kexin family 973 1992-06-05 2004-06-16 2004-06-14 2021-12-07 5046 ENSG00000140479 OTTHUMG00000172097 uc032csi.2 NM_002570 "CCDS73790|CCDS73793|CCDS73792|CCDS73791|CCDS73789" P29122 "1741956|8262218" MGI:102897 RGD:3246 LRG_888|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_888.xml 167405 S08.075 objectId:2386 3.4.21.- HGNC:8569 "ENST00000611716.5|NM_002570.5" +HGNC:51448 PCSK6-AS1 PCSK6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Antisense RNAs 1987 2014-11-28 2016-11-18 105371027 ENSG00000259764 OTTHUMG00000172093 BG505308 NR_132373 26908617 PCSK6-AS1 HGNC:51448 +HGNC:8748 PCSK7 proprotein convertase subtilisin/kexin type 7 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "PC7|PC8|LPC|SPC7" Proprotein convertase subtilisin/kexin family 973 1999-02-24 2016-10-05 9159 ENSG00000160613 OTTHUMG00000165640 uc001pqr.4 U40623 NM_004716 CCDS8382 Q16549 "8615762|9820811" MGI:107421 RGD:3275 604872 S08.077 objectId:2387 HGNC:8748 "ENST00000320934.8|NM_004716.4" +HGNC:20001 PCSK9 proprotein convertase subtilisin/kexin type 9 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "NARC-1|FH3" HCHOLA3 hypercholesterolemia, autosomal dominant 3 Proprotein convertase subtilisin/kexin family 973 2003-05-13 2003-05-13 2021-05-26 255738 ENSG00000169174 OTTHUMG00000008136 uc001cyf.3 AX207686 NM_174936 CCDS603 Q8NBP7 "12552133|12730697" MGI:2140260 RGD:728909 "British Heart Foundation|http://www.ucl.ac.uk/ldlr/Current/home.php?select_db=PCSK9|LRG_275|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_275.xml" 607786 124137 S08.039 objectId:2388 HGNC:20001 "ENST00000302118.5|NM_174936.4" HGNC:20001 +HGNC:8752 PCTP phosphatidylcholine transfer protein protein-coding gene gene with protein product Approved 17q22 17q22 STARD2 StAR-related lipid transfer (START) domain containing 2 StAR related lipid transfer domain containing 759 1999-01-11 2016-01-15 58488 ENSG00000141179 OTTHUMG00000177859 uc002iul.5 AK024667 NM_021213 "CCDS82166|CCDS45741|CCDS82165|CCDS11588" Q9UKL6 MGI:107375 RGD:3276 606055 HGNC:8752 "ENST00000268896.10|NM_021213.4" +HGNC:20588 PCYOX1 prenylcysteine oxidase 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "KIAA0908|PCL1" 2003-09-25 2014-11-19 51449 ENSG00000116005 OTTHUMG00000129671 uc002sgn.5 AB020715 NM_016297 CCDS1902 Q9UHG3 "10585463|12186880" MGI:1914131 RGD:628652 610995 1.8.3.5 HGNC:20588 "ENST00000433351.7|NM_016297.4" +HGNC:28477 PCYOX1L prenylcysteine oxidase 1 like protein-coding gene gene with protein product Approved 5q32 05q32 MGC3265 2006-08-08 2016-10-05 78991 ENSG00000145882 OTTHUMG00000130052 uc003lqk.3 NM_024028 CCDS4296 Q8NBM8 12477932 MGI:3606062 RGD:1563290 HGNC:28477 "ENST00000274569.9|NM_024028.4" +HGNC:8754 PCYT1A phosphate cytidylyltransferase 1A, choline protein-coding gene gene with protein product Approved 3q29 03q29 "CT|CTPCT|CCTalpha" "phosphate cytidylyltransferase 1, choline, alpha isoform|CTP:phosphocholine cytidylyltransferase-alpha|choline-phosphate cytidylyltransferase alpha|phosphorylcholine transferase alpha" PCYT1 "phosphate cytidylyltransferase 1, choline, alpha isoform|phosphate cytidylyltransferase 1, choline, alpha" 1999-05-05 2021-03-04 2021-03-04 5130 ENSG00000161217 OTTHUMG00000155670 uc003fwf.2 L28957 NM_005017 CCDS3315 P49585 7918629 MGI:88557 RGD:70515 123695 391468 2.7.7.15 HGNC:8754 "ENST00000431016.6|NM_001312673.2" HGNC:8754 +HGNC:8755 PCYT1B phosphate cytidylyltransferase 1B, choline protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "CCT-beta|CTB|CCTbeta" "CTP:phosphocholine cytidylyltransferase-beta|choline-phosphate cytidylyltransferase beta|phosphorylcholine transferase beta" "phosphate cytidylyltransferase 1, choline, beta isoform|phosphate cytidylyltransferase 1, choline, beta" 1999-05-05 2021-03-04 2021-03-04 9468 ENSG00000102230 OTTHUMG00000021270 uc004dbi.4 AF052510 NM_004845 "CCDS55391|CCDS14213|CCDS55392" Q9Y5K3 9593753 MGI:2147987 RGD:708434 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PCYT1B 300948 2.7.7.15 HGNC:8755 "ENST00000379144.7|NM_004845.5" +HGNC:40431 PCYT1B-AS1 PCYT1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.11 Xp22.11 PCYT1B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100874088 ENSG00000236836 OTTHUMG00000021273 uc033dso.1 NR_046638 PCYT1B-AS1 HGNC:40431 +HGNC:8756 PCYT2 phosphate cytidylyltransferase 2, ethanolamine protein-coding gene gene with protein product Approved 17q25.3 17q25.3 ET "CTP:phosphoethanolamine cytidylyltransferase|phosphorylethanolamine transferase|ethanolamine-phosphate cytidylyltransferase:" 1997-06-09 2021-05-26 5833 ENSG00000185813 OTTHUMG00000177956 uc002kcf.4 D84307 NM_002861 "CCDS54178|CCDS62364|CCDS82220|CCDS11791|CCDS58610" Q99447 9083101 MGI:1915921 RGD:619970 602679 2.7.7.14 HGNC:8756 "ENST00000538936.7|NM_002861.5" HGNC:8756 +HGNC:14634 PDAP1 PDGFA associated protein 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "PAP1|PAP|HASPP28" PDGF associated protein 2001-02-15 2016-10-05 11333 ENSG00000106244 OTTHUMG00000154629 uc003uqe.5 U41745 NM_014891 CCDS5662 Q13442 8780057 MGI:2448536 RGD:620442 607075 HGNC:14634 "ENST00000350498.8|NM_014891.7" +HGNC:8759 PDC phosducin protein-coding gene gene with protein product Approved 1q31.1 01q31.1 MEKA 1990-04-10 2016-10-05 5132 ENSG00000116703 OTTHUMG00000035575 uc001gsa.5 AF076464 NM_022577 "CCDS41447|CCDS1370" P20941 8288249 MGI:98090 RGD:3277 Mutations of the Phosducin Gene|http://www.retina-international.org/files/sci-news/pdcmut.htm 171490 HGNC:8759 "ENST00000391997.3|NM_002597.5" +HGNC:40432 PDC-AS1 PDC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q31.1 01q31.1 Antisense RNAs 1987 2019-09-19 2019-09-19 102724919 ENSG00000229739 OTTHUMG00000035581 NR_126002 HGNC:40432 +HGNC:8760 PDCD1 programmed cell death 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "CD279|PD1|hSLE1|PD-1" SLEB2 systemic lupus erythematosus susceptibility 2 "CD molecules|V-set domain containing" "471|590" 1994-05-24 2015-09-10 5133 ENSG00000188389 OTTHUMG00000151342 uc002wcq.5 AY206416 NM_005018 CCDS33428 Q15116 "7851902|12402038" MGI:104879 RGD:1311658 600244 247147 objectId:2760 CD279 HGNC:8760 "ENST00000334409.10|NM_005018.3" +HGNC:18731 PDCD1LG2 programmed cell death 1 ligand 2 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "PD-L2|Btdc|PDL2|bA574F11.2|CD273|B7-DC" B7 dendritic cell molecule "CD molecules|Receptor ligands|Immunoglobulin like domain containing|B7 family" "471|542|594|1824" 2003-11-14 2016-10-05 80380 ENSG00000197646 OTTHUMG00000019504 uc003zjg.5 AF344424 NM_025239 CCDS6465 Q9BQ51 11224527 MGI:1930125 RGD:1306403 PDCD1LG2 605723 CD273 HGNC:18731 "ENST00000397747.5|NM_025239.4" +HGNC:8762 PDCD2 programmed cell death 2 protein-coding gene gene with protein product Approved 6q27 06q27 "ZMYND7|RP8" Zinc fingers MYND-type 87 1995-01-03 2019-02-01 5134 ENSG00000071994 OTTHUMG00000016083 uc003qxw.4 AJ420535 NM_002598 "CCDS87471|CCDS5316|CCDS75557|CCDS56462|CCDS47521|CCDS56461|CCDS56460" Q16342 7606924 MGI:104643 RGD:61887 600866 HGNC:8762 "ENST00000541970.6|NM_002598.4" +HGNC:28194 PDCD2L programmed cell death 2 like protein-coding gene gene with protein product Approved 19q13.11 19q13.11 MGC13096 2006-03-31 2016-06-22 2020-04-01 84306 ENSG00000126249 OTTHUMG00000182089 uc002nvj.4 BC006146 NM_032346 CCDS12438 Q9BRP1 "16311922|25566315" MGI:1915329 RGD:1589941 615661 HGNC:28194 "ENST00000246535.4|NM_032346.2" +HGNC:8763 PDCD4 programmed cell death 4 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 H731 nuclear antigen H731 programmed cell death 4 (neoplastic transformation inhibitor) MicroRNA protein coding host genes 1691 2000-05-10 2016-11-30 2016-11-30 27250 ENSG00000150593 OTTHUMG00000019048 uc001kzh.4 U83908 NM_014456 "CCDS44478|CCDS7567" Q53EL6 9759869 MGI:107490 RGD:620816 608610 HGNC:8763 "ENST00000280154.12|NM_014456.5" +HGNC:27425 PDCD4-AS1 PDCD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.2 10q25.2 Antisense RNAs 1987 2013-03-11 2013-04-23 282997 ENSG00000203497 OTTHUMG00000019045 uc057vzb.1 NR_026932 PDCD4-AS1 HGNC:27425 +HGNC:8764 PDCD5 programmed cell death 5 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "TFAR19|MGC9294" "TFAR19 novel apoptosis-related|TF1 cell apoptosis-related gene 19" 1999-12-10 2014-11-19 9141 ENSG00000105185 OTTHUMG00000180224 uc002ntm.4 AF014955 NM_004708 CCDS12423 O14737 9920759 MGI:1913538 RGD:1310561 604583 HGNC:8764 "ENST00000590247.7|NM_004708.4" +HGNC:49885 PDCD5P1 programmed cell death 5 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 2014-03-18 2014-03-18 100527946 ENSG00000255909 OTTHUMG00000168907 NG_027977 PGOHUM00000239699 HGNC:49885 +HGNC:49886 PDCD5P2 programmed cell death 5 pseudogene 2 pseudogene pseudogene Approved 5q13.3 05q13.3 2014-03-18 2014-03-18 100527947 ENSG00000251107 OTTHUMG00000162398 NG_027978 PGOHUM00000235660 HGNC:49886 +HGNC:8765 PDCD6 programmed cell death 6 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "ALG-2|PEF1B" apoptosis-linked gene-2 EF-hand domain containing 863 1999-12-10 2014-11-19 10016 ENSG00000249915 OTTHUMG00000090283 uc003jat.1 AF035606 NM_013232 "CCDS3854|CCDS58940|CCDS75223|CCDS58941|CCDS75222" O75340 8560270 MGI:109283 RGD:1311239 601057 HGNC:8765 "ENST00000264933.9|NM_013232.4" +HGNC:54724 PDCD6-AHRR PDCD6-AHRR readthrough (NMD candidate) other readthrough Approved 5p15.33 05p15.33 2019-12-20 2021-08-17 116412618 ENSG00000288622 NR_165159 +HGNC:55580 PDCD6-DT PDCD6 divergent transcript non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 HRAT5 heart tissue-associated transcript 5 Divergent transcripts 1990 2021-04-23 2021-04-23 102467073 ENSG00000248925 NR_104613 +HGNC:8766 PDCD6IP programmed cell death 6 interacting protein protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "Alix|AIP1|Hp95" ALG-2 interacting protein X programmed cell death 6-interacting protein 1999-12-10 2001-11-29 2015-08-25 10015 ENSG00000170248 OTTHUMG00000130751 uc003cfx.5 BC020066 NM_001162429 "CCDS2660|CCDS54561" Q8WUM4 9880530 MGI:1333753 RGD:68357 608074 HGNC:8766 "ENST00000307296.8|NM_013374.6" +HGNC:55244 PDCD6IP-DT PDCD6IP divergent transcript non-coding RNA RNA, long non-coding Approved 3p22.3 03p22.3 Divergent transcripts 1990 2020-09-17 2020-09-17 105377023 ENSG00000271643 XR_940698 +HGNC:49872 PDCD6IPP1 PDCD6IP pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 2014-03-18 2015-01-29 100861430 ENSG00000275325 OTTHUMG00000188375 NG_031996 PGOHUM00000293129 HGNC:49872 +HGNC:49873 PDCD6IPP2 PDCD6IP pseudogene 2 pseudogene pseudogene Approved 15q13.1 15q13.1 2014-03-18 2014-03-18 646278 ENSG00000261377 OTTHUMG00000176344 NR_037599 PGOHUM00000258930 HGNC:49873 +HGNC:55763 PDCD6P1 PDCD6 pseudogene 1 pseudogene pseudogene Approved 5p15.33 05p15.33 2021-07-22 2021-07-22 728613 ENSG00000188002 NR_003713 +HGNC:8767 PDCD7 programmed cell death 7 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "HES18|ES18|59K" U11/U12 snRNP 59K "U11/U12 di-snRNP|U11 small nuclear ribonucleoprotein" "1521|2045" 1999-12-02 2021-01-14 10081 ENSG00000090470 OTTHUMG00000133117 uc002aol.3 AF083930 NM_005707 CCDS10201 Q8N8D1 10037816 MGI:1859170 RGD:1308961 608138 HGNC:8767 "ENST00000204549.9|NM_005707.2" +HGNC:8761 PDCD10 programmed cell death 10 protein-coding gene gene with protein product Approved 3q26.1 03q26.1 TFAR15 CCM3 cerebral cavernous malformations 3 "STRIPAK complex|CCM adhesion complex" "1371|1940" 1999-12-10 2021-05-26 11235 ENSG00000114209 OTTHUMG00000158415 uc003fex.5 AF022385 NM_007217 CCDS3202 Q9BUL8 15543491 MGI:1928396 RGD:1359329 LRG_651|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_651.xml 609118 124142 HGNC:8761 "ENST00000392750.7|NM_007217.4" HGNC:8761 +HGNC:13408 PDCD11 programmed cell death 11 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 "KIAA0185|ALG-4|RRP5|NFBP" "Minor histocompatibility antigens|SSU processome" "870|1484" 2003-04-10 2019-05-10 22984 ENSG00000148843 OTTHUMG00000018988 uc001kwy.2 D80007 NM_014976 CCDS31276 Q14690 "10229231|17654514" MGI:1341788 RGD:1304933 612333 HGNC:13408 "ENST00000369797.8|NM_014976.2" +HGNC:8770 PDCL phosducin like protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "PhLP|DKFZp564M1863" 1996-07-26 2015-11-09 2016-10-05 5082 ENSG00000136940 OTTHUMG00000020624 uc004bmz.3 AF083325 NM_005388 CCDS6845 Q13371 10095058 MGI:1914716 RGD:621135 604421 HGNC:8770 "ENST00000259467.9|NM_005388.5" +HGNC:29524 PDCL2 phosducin like 2 protein-coding gene gene with protein product Approved 4q12 04q12 GCPHLP 2004-02-16 2015-11-09 2015-11-09 132954 ENSG00000163440 OTTHUMG00000160674 uc003hbb.3 BC034431 NM_152401 CCDS47059 Q8N4E4 12424248 MGI:1890655 RGD:1559712 611676 HGNC:29524 "ENST00000295645.9|NM_152401.3" +HGNC:50340 PDCL2P1 PDCL2 pseudogene 1 pseudogene pseudogene Approved Xp22.11 Xp22.11 phosducin-like 2 pseudogene 1 2014-04-15 2019-02-18 2019-02-18 653707 ENSG00000228610 OTTHUMG00000021250 NG_023356 PGOHUM00000241664 HGNC:50340 +HGNC:50341 PDCL2P2 PDCL2 pseudogene 2 pseudogene pseudogene Approved 11q13.1 11q13.1 phosducin-like 2 pseudogene 2 2014-04-15 2019-02-18 2019-02-18 106480295 ENSG00000255058 OTTHUMG00000165610 NG_044216 PGOHUM00000242328 HGNC:50341 +HGNC:28860 PDCL3 phosducin like 3 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 VIAF1 2004-02-16 2015-11-09 2016-10-05 79031 ENSG00000115539 OTTHUMG00000153141 uc002tao.3 AF267853 NM_024065 CCDS33261 Q9H2J4 MGI:1916083 RGD:1309663 611678 HGNC:28860 "ENST00000264254.11|NM_024065.5" +HGNC:31826 PDCL3P1 PDCL3 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 phosducin-like 3 pseudogene 1 2004-09-15 2019-02-18 2020-04-20 392225 ENSG00000226301 OTTHUMG00000165327 NG_022420 PGOHUM00000249686 HGNC:31826 +HGNC:31705 PDCL3P2 PDCL3 pseudogene 2 pseudogene pseudogene Approved 8q22.3 08q22.3 phosducin-like 3 pseudogene 2 2005-10-06 2019-02-18 2020-04-20 643831 ENSG00000282989 OTTHUMG00000191513 NG_005684 PGOHUM00000249463 HGNC:31705 +HGNC:44504 PDCL3P3 PDCL3 pseudogene 3 pseudogene pseudogene Approved 3p24.3 03p24.3 phosducin-like 3 pseudogene 3 2012-11-13 2019-02-18 2019-02-18 100132683 ENSG00000214286 OTTHUMG00000155541 NG_022197 PGOHUM00000237550 HGNC:44504 +HGNC:44505 PDCL3P4 PDCL3 pseudogene 4 pseudogene pseudogene Approved 3q12.3 03q12.3 phosducin-like 3 pseudogene 4 2012-11-13 2019-02-18 2019-02-18 285359 ENSG00000244119 OTTHUMG00000159184 NR_002941 PGOHUM00000238119 HGNC:44505 +HGNC:44506 PDCL3P5 PDCL3 pseudogene 5 pseudogene pseudogene Approved 6q25.1 06q25.1 phosducin-like 3 pseudogene 5 2012-11-13 2019-02-18 2019-02-18 644850 ENSG00000213089 OTTHUMG00000015825 NG_006960 PGOHUM00000243821 HGNC:44506 +HGNC:44507 PDCL3P6 PDCL3 pseudogene 6 pseudogene pseudogene Approved 1p32.3 01p32.3 phosducin-like 3 pseudogene 6 2012-11-13 2019-02-18 2019-02-18 100419023 ENSG00000224255 NG_027092 PGOHUM00000244719 HGNC:44507 +HGNC:44508 PDCL3P7 PDCL3 pseudogene 7 pseudogene pseudogene Approved 12q14.3 12q14.3 phosducin-like 3 pseudogene 7 2012-11-13 2019-02-18 2019-02-18 390340 ENSG00000256777 OTTHUMG00000169005 PGOHUM00000239502 HGNC:44508 +HGNC:8774 PDE1A phosphodiesterase 1A protein-coding gene gene with protein product Approved 2q32.1 02q32.1 phosphodiesterase 1A, calmodulin-dependent Phosphodiesterases 681 1997-02-05 2015-11-18 2015-11-18 5136 ENSG00000115252 OTTHUMG00000132596 uc002uoq.3 NM_001003683 "CCDS2285|CCDS33344|CCDS58741|CCDS74612|CCDS86900" P54750 "8557689|11342109" MGI:1201792 RGD:68329 171890 objectId:1294 3.1.4.17 HGNC:8774 +HGNC:8775 PDE1B phosphodiesterase 1B protein-coding gene gene with protein product Approved 12q13.2 12q13.2 PDES1B phosphodiesterase 1B, calmodulin-dependent Phosphodiesterases 681 1990-01-02 2015-11-18 2016-11-09 5153 ENSG00000123360 OTTHUMG00000169844 uc001sgd.3 U56976 NM_000924 "CCDS53800|CCDS8882|CCDS73477" Q01064 "8855339|9419816" MGI:97523 RGD:3278 171891 objectId:1295 3.1.4.17 HGNC:8775 "ENST00000243052.8|NM_000924.4" +HGNC:8776 PDE1C phosphodiesterase 1C protein-coding gene gene with protein product Approved 7p14.3 07p14.3 Hcam3 "phosphodiesterase 1C, calmodulin-dependent (70kD)|phosphodiesterase 1C, calmodulin-dependent 70kDa" Phosphodiesterases 681 1994-07-29 2015-11-16 2016-10-05 5137 ENSG00000154678 OTTHUMG00000023836 uc003tcp.2 U40371 NM_001191056 "CCDS55100|CCDS5437|CCDS55099" Q14123 8557689 MGI:108413 RGD:68332 602987 objectId:1296 3.1.4.17 HGNC:8776 "ENST00000396191.6|NM_001191057.4" HGNC:8776 +HGNC:8777 PDE2A phosphodiesterase 2A protein-coding gene gene with protein product Approved 11q13.4 11q13.4 phosphodiesterase 2A, cGMP-stimulated "Phosphodiesterases|MicroRNA protein coding host genes" "681|1691" 1997-11-10 2015-11-18 2016-10-05 5138 ENSG00000186642 OTTHUMG00000102045 uc010rrc.3 U67733 NM_002599 "CCDS73345|CCDS44670|CCDS53678|CCDS8216" O00408 9210593 MGI:2446107 RGD:620965 602658 objectId:1297 3.1.4.17 HGNC:8777 "ENST00000334456.10|NM_002599.5" HGNC:8777 +HGNC:40435 PDE2A-AS1 PDE2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2019-09-19 2019-09-19 105369379 ENSG00000255808 OTTHUMG00000167929 XR_001748293 HGNC:40435 +HGNC:40434 PDE2A-AS2 PDE2A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2019-09-19 2019-09-19 105369378 ENSG00000256633 OTTHUMG00000167928 XR_001748291 HGNC:40434 +HGNC:8778 PDE3A phosphodiesterase 3A protein-coding gene gene with protein product Approved 12p12.2 12p12.2 CGI-PDE cGMP-inhibited 3',5'-cyclic phosphodiesterase A phosphodiesterase 3A, cGMP-inhibited Phosphodiesterases 681 1994-07-29 2015-11-18 2021-05-26 5139 ENSG00000172572 OTTHUMG00000168962 uc001reh.3 NM_000921 CCDS31754 Q14432 "1315035|10679291" MGI:1860764 RGD:61942 123805 431999 objectId:1298 3.1.4.17 HGNC:8778 "ENST00000359062.4|NM_000921.5" HGNC:8778 +HGNC:40436 PDE3A-AS1 PDE3A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.2 12p12.2 Antisense RNAs 1987 2021-03-11 2021-03-11 120766147 ENSG00000256879 OTTHUMG00000168961 +HGNC:8779 PDE3B phosphodiesterase 3B protein-coding gene gene with protein product Approved 11p15.2 11p15.2 HcGIP1 phosphodiesterase 3B, cGMP-inhibited Phosphodiesterases 681 1995-10-02 2015-11-18 2015-11-18 5140 ENSG00000152270 OTTHUMG00000165898 uc001mln.4 U38178 NM_000922 CCDS7817 Q13370 "8884271|16395595" MGI:1333863 RGD:61943 602047 objectId:1299 3.1.4.17 HGNC:8779 "ENST00000282096.9|NM_000922.4" +HGNC:8780 PDE4A phosphodiesterase 4A protein-coding gene gene with protein product Approved 19p13.2 19p13.2 phosphodiesterase E2 dunce homolog (Drosophila) DPDE2 "phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)|phosphodiesterase 4A, cAMP-specific" Phosphodiesterases 681 1994-07-29 2015-11-18 2019-04-16 5141 ENSG00000065989 OTTHUMG00000180411 uc002mom.3 NM_001111307 "CCDS45961|CCDS45962|CCDS12238|CCDS45963|CCDS58649" P27815 8009369 MGI:99558 RGD:3279 600126 objectId:1300 3.1.4.17 HGNC:8780 "ENST00000380702.7|NM_001111307.2" +HGNC:8781 PDE4B phosphodiesterase 4B protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "phosphodiesterase E4 dunce homolog (Drosophila)|cAMP-specific 3',5'-cyclic phosphodiesterase 4B" DPDE4 "phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)|phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)|phosphodiesterase 4B, cAMP-specific" Phosphodiesterases 681 1994-07-29 2015-11-18 2016-10-05 5142 ENSG00000184588 OTTHUMG00000009088 uc001dcp.4 L20971 NM_002600 "CCDS72802|CCDS632|CCDS30742|CCDS30743" Q07343 MGI:99557 RGD:3280 600127 objectId:1301 HGNC:8781 "ENST00000341517.9|NM_002600.4" +HGNC:40437 PDE4B-AS1 PDE4B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Antisense RNAs 1987 2019-09-19 2019-09-19 101927139 ENSG00000227466 OTTHUMG00000009087 NR_123718 HGNC:40437 +HGNC:8782 PDE4C phosphodiesterase 4C protein-coding gene gene with protein product Approved 19p13.11 19p13.11 phosphodiesterase E1 dunce homolog (Drosophila) DPDE1 "phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)|phosphodiesterase 4C, cAMP-specific" Phosphodiesterases 681 1992-06-08 2015-11-18 2019-08-21 5143 ENSG00000105650 OTTHUMG00000183353 uc002nil.4 NM_000923 "CCDS42523|CCDS46016|CCDS12373" Q08493 MGI:99556 RGD:727918 600128 objectId:1302 3.1.4.17 HGNC:8782 +HGNC:8783 PDE4D phosphodiesterase 4D protein-coding gene gene with protein product Approved 5q11.2-q12.1 05q11.2-q12.1 "phosphodiesterase E3 dunce homolog (Drosophila)|cAMP-specific 3',5'-cyclic phosphodiesterase 4D" DPDE3 "phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)|phosphodiesterase 4D, cAMP-specific" "Phosphodiesterases|MicroRNA protein coding host genes" "681|1691" 1992-06-08 2015-11-18 2021-05-26 5144 ENSG00000113448 OTTHUMG00000162218 uc003jrz.5 NM_001104631 "CCDS56370|CCDS56369|CCDS56371|CCDS47213|CCDS87297|CCDS54859|CCDS56373|CCDS54858|CCDS56372" Q08499 MGI:99555 RGD:3281 600129 299630 objectId:1303 3.1.4.17 HGNC:8783 "ENST00000340635.11|NM_001104631.2" HGNC:8783 +HGNC:15580 PDE4DIP phosphodiesterase 4D interacting protein protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "KIAA0477|KIAA0454|MMGL" myomegalin CMYA2 cardiomyopathy associated 2 2001-06-27 2008-07-31 2020-06-17 9659 ENSG00000178104 OTTHUMG00000013846 uc031uvq.2 "AB007923|AB007946" NM_014644 "CCDS72894|CCDS72893|CCDS72887|CCDS72889|CCDS72888|CCDS72892|CCDS72891|CCDS72890" Q5VU43 "9455484|11134006" MGI:1891434 RGD:708410 PDE4DIP 608117 HGNC:15580 +HGNC:50867 PDE4DIPP1 PDE4DIP pseudogene 1 pseudogene pseudogene Approved 1q21.2 01q21.2 phosphodiesterase 4D interacting protein pseudogene 1 2014-07-16 2015-02-04 2020-06-17 2020-06-17 728920 ENSG00000229828 OTTHUMG00000013879 NR_146087 PGOHUM00000296552 HGNC:50867 +HGNC:55081 PDE4DIPP2 PDE4DIP pseudogene 2 pseudogene pseudogene Approved 1p11.2 01p11.2 2020-06-17 2020-06-17 100996724 ENSG00000275131 NR_144516 +HGNC:55082 PDE4DIPP3 PDE4DIP pseudogene 3 pseudogene pseudogene Approved 1q21.1 01q21.1 2020-06-17 2020-06-17 199882 ENSG00000233430 XR_001737706 +HGNC:55083 PDE4DIPP4 PDE4DIP pseudogene 4 pseudogene pseudogene Approved 1p11.2 01p11.2 2020-06-17 2020-06-17 101929798 ENSG00000275585 NR_135813 +HGNC:55084 PDE4DIPP5 PDE4DIP pseudogene 5 pseudogene pseudogene Approved 1q21.1 01q21.1 2020-06-18 2020-06-18 101060254 ENSG00000275064 XR_004837564 +HGNC:55097 PDE4DIPP6 PDE4DIP pseudogene 6 pseudogene pseudogene Approved 1q21.2 01q21.2 2020-06-19 2020-06-19 100132057 ENSG00000231551 NR_168361 +HGNC:55098 PDE4DIPP7 PDE4DIP pseudogene 7 pseudogene pseudogene Approved 1q21.2 01q21.2 2020-06-19 2020-06-19 102723955 ENSG00000234232 XR_001738210 PGOHUM00000295890 +HGNC:55099 PDE4DIPP8 PDE4DIP pseudogene 8 pseudogene pseudogene Approved 1p36.13 01p36.13 2020-06-19 2020-06-19 100421267 ENSG00000225710 NG_026915 PGOHUM00000295573 +HGNC:55100 PDE4DIPP9 PDE4DIP pseudogene 9 pseudogene pseudogene Approved 1p36.13 01p36.13 2020-06-19 2020-06-19 100421279 ENSG00000230239 NG_027068 PGOHUM00000296233 +HGNC:55101 PDE4DIPP10 PDE4DIP pseudogene 10 pseudogene pseudogene Approved 1p36.12 01p36.12 2020-06-19 2020-06-19 100421269 ENSG00000228823 NG_026917 PGOHUM00000295583 +HGNC:8784 PDE5A phosphodiesterase 5A protein-coding gene gene with protein product Approved 4q26 04q26 phosphodiesterase 5A, cGMP-specific Phosphodiesterases 681 1998-11-24 2015-11-18 2016-10-05 8654 ENSG00000138735 OTTHUMG00000132971 uc003idh.4 D89094 NM_001083 "CCDS3713|CCDS34055" O76074 "9714779|9642111" MGI:2651499 RGD:620995 603310 objectId:1304 3.1.4.17 HGNC:8784 "ENST00000354960.8|NM_001083.4" +HGNC:8785 PDE6A phosphodiesterase 6A protein-coding gene gene with protein product Approved 5q32 05q32 RP43 "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha|retinitis pigmentosa type 43" PDEA phosphodiesterase 6A, cGMP-specific, rod, alpha Phosphodiesterases 681 1990-03-20 2015-11-18 2021-05-26 5145 ENSG00000132915 OTTHUMG00000130047 uc003lrg.4 NM_000440 CCDS4299 P16499 2155175 MGI:97524 RGD:1306835 Mutations of the Phosphodiesterase type 6|http://www.retina-international.org/files/sci-news/pdemut.htm 180071 124146 objectId:1312 3.1.4.17 HGNC:8785 "ENST00000255266.10|NM_000440.3" HGNC:8785 +HGNC:8786 PDE6B phosphodiesterase 6B protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "CSNB3|rd1|RP40|CSNBAD2" "congenital stationary night blindness 3, autosomal dominant|rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta" PDEB phosphodiesterase 6B, cGMP-specific, rod, beta Phosphodiesterases 681 1991-01-15 2015-11-18 2021-05-26 5158 ENSG00000133256 OTTHUMG00000159909 uc003gap.4 BC000249 NM_000283 "CCDS54703|CCDS33932|CCDS46993" P35913 1313787 MGI:97525 RGD:1311039 180072 124149 objectId:1313 3.1.4.17 HGNC:8786 "ENST00000496514.6|NM_000283.4" HGNC:8786 +HGNC:40438 PDE6B-AS1 PDE6B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 Antisense RNAs 1987 2019-09-19 2019-09-19 101928521 ENSG00000242686 OTTHUMG00000159908 XR_001741541 HGNC:40438 +HGNC:8787 PDE6C phosphodiesterase 6C protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "PDEA2|ACHM5|COD4" Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha phosphodiesterase 6C, cGMP-specific, cone, alpha prime Phosphodiesterases 681 1995-07-13 2015-11-18 2021-05-26 5146 ENSG00000095464 OTTHUMG00000018775 uc001kiu.5 U31973 NM_006204 CCDS7429 P51160 MGI:105956 RGD:1309844 600827 208333 objectId:1314 3.1.4.17 HGNC:8787 "ENST00000371447.4|NM_006204.4" HGNC:8787 +HGNC:8788 PDE6D phosphodiesterase 6D protein-coding gene gene with protein product Approved 2q37.1 02q37.1 JBTS22 retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta phosphodiesterase 6D, cGMP-specific, rod, delta Phosphodiesterases 681 1997-11-03 2015-11-18 2021-05-26 5147 ENSG00000156973 OTTHUMG00000153785 uc002vse.2 AF045999 NM_001291018 "CCDS77538|CCDS33398" O43924 "9533031|9570951" MGI:1270843 RGD:1306204 602676 391804 objectId:1315 3.1.4.17 HGNC:8788 "ENST00000287600.9|NM_002601.4" HGNC:8788 +HGNC:8789 PDE6G phosphodiesterase 6G protein-coding gene gene with protein product Approved 17q25.3 17q25.3 RP57 PDEG phosphodiesterase 6G, cGMP-specific, rod, gamma Phosphodiesterases 681 1990-04-10 2015-11-18 2021-05-26 5148 ENSG00000185527 OTTHUMG00000178038 uc060llj.1 NM_001365724 CCDS11783 P18545 2155175 MGI:97526 RGD:1591130 180073 238998 objectId:1316 3.1.4.17 HGNC:8789 "ENST00000331056.10|NM_002602.4" HGNC:8789 +HGNC:8790 PDE6H phosphodiesterase 6H protein-coding gene gene with protein product Approved 12p12.3 12p12.3 retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma phosphodiesterase 6H, cGMP-specific, cone, gamma Phosphodiesterases 681 1995-07-13 2015-11-18 2021-05-26 5149 ENSG00000139053 OTTHUMG00000168743 uc001rcr.5 NM_006205 CCDS8672 Q13956 8786098 MGI:1925850 RGD:70933 601190 160320 objectId:1317 3.1.4.17 HGNC:8790 "ENST00000266395.3|NM_006205.3" HGNC:8790 +HGNC:8791 PDE7A phosphodiesterase 7A protein-coding gene gene with protein product Approved 8q13.1 08q13.1 HCP1 Phosphodiesterases 681 1994-07-21 2016-11-01 5150 ENSG00000205268 OTTHUMG00000164469 uc003xvp.4 L12052 NM_001242318 "CCDS56538|CCDS34901" Q13946 "8389765|9521885" MGI:1202402 RGD:68391 171885 objectId:1305 3.1.4.17 HGNC:8791 "ENST00000401827.8|NM_001242318.3" +HGNC:55223 PDE7A-DT PDE7A divergent transcript non-coding RNA RNA, long non-coding Approved 8q13.1 08q13.1 Divergent transcripts 1990 2020-09-11 2020-09-11 118568829 ENSG00000272192 +HGNC:8792 PDE7B phosphodiesterase 7B protein-coding gene gene with protein product Approved 6q23.3 06q23.3 Phosphodiesterases 681 2000-01-07 2016-10-05 27115 ENSG00000171408 OTTHUMG00000015641 uc003qgp.4 AB038040 NM_018945 CCDS5175 Q9NP56 10618442 MGI:1352752 RGD:621016 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=PDE7B 604645 objectId:1306 3.1.4.17 HGNC:8792 "ENST00000308191.11|NM_018945.4" +HGNC:8793 PDE8A phosphodiesterase 8A protein-coding gene gene with protein product Approved 15q25.3 15q25.3 HsT19550 "Phosphodiesterases|PAS domain containing" "681|2127" 1998-06-12 2014-11-19 5151 ENSG00000073417 OTTHUMG00000148670 uc002blh.4 AF056490 NM_002605 "CCDS10336|CCDS10337|CCDS58397" O60658 9618252 MGI:1277116 RGD:735125 602972 objectId:1307 3.1.4.17 HGNC:8793 "ENST00000394553.6|NM_002605.3" +HGNC:8794 PDE8B phosphodiesterase 8B protein-coding gene gene with protein product Approved 5q13.3 05q13.3 High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B "Phosphodiesterases|PAS domain containing" "681|2127" 1998-11-30 2021-05-26 8622 ENSG00000113231 OTTHUMG00000102170 uc003kfa.4 AF079529 NM_003719 "CCDS34191|CCDS34192|CCDS4037|CCDS34193|CCDS87307|CCDS34190" O95263 9784418 MGI:2443999 RGD:735041 603390 226016 objectId:1308 3.1.4.17 HGNC:8794 "ENST00000264917.10|NM_003719.5" HGNC:8794 +HGNC:8795 PDE9A phosphodiesterase 9A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 Phosphodiesterases 681 1998-06-12 2014-11-19 5152 ENSG00000160191 OTTHUMG00000086825 uc002zbx.4 AF048837 NM_001001567 "CCDS42946|CCDS42944|CCDS42945|CCDS42943|CCDS42942|CCDS42941|CCDS33570|CCDS33569|CCDS42947|CCDS33568|CCDS33567|CCDS33571|CCDS13690" O76083 9624146 MGI:1277179 RGD:621035 602973 objectId:1309 3.1.4.17 HGNC:8795 "ENST00000291539.11|NM_002606.3" +HGNC:40440 PDE9A-AS1 PDE9A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Antisense RNAs 1987 2019-09-19 2019-09-19 101928284 ENSG00000225731 OTTHUMG00000153501 XR_244323 HGNC:40440 +HGNC:8772 PDE10A phosphodiesterase 10A protein-coding gene gene with protein product Approved 6q27 06q27 cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A Phosphodiesterases 681 1999-07-30 2021-05-26 10846 ENSG00000112541 OTTHUMG00000015986 uc003quo.4 AB020593 NM_001130690 "CCDS47513|CCDS5289" Q9Y233 10373451 MGI:1345143 RGD:68434 610652 objectId:1310 3.1.4.17 HGNC:8772 "ENST00000539869.4|NM_001385079.1" HGNC:8772 +HGNC:8773 PDE11A phosphodiesterase 11A protein-coding gene gene with protein product Approved 2q31.2 02q31.2 Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A Phosphodiesterases 681 2000-06-09 2021-05-26 50940 ENSG00000128655 OTTHUMG00000154188 uc002ulq.4 AJ251509 NM_001077196 "CCDS46459|CCDS42786|CCDS42785|CCDS33334" Q9HCR9 10725373 MGI:3036251 RGD:621793 604961 169910 objectId:1311 3.1.4.17 HGNC:8773 "ENST00000286063.11|NM_016953.4" HGNC:8773 +HGNC:40433 PDE11A-AS1 PDE11A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.2 02q31.2 Antisense RNAs 1987 2019-09-19 2019-09-19 105373764 ENSG00000229941 OTTHUMG00000154189 NR_136171 HGNC:40433 +HGNC:25386 PDE12 phosphodiesterase 12 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "DKFZp667B1218|2'-PDE|3635" "2'-phosphodiesterase|mitochondrial deadenylase" 2008-02-27 2017-12-08 201626 ENSG00000174840 OTTHUMG00000158599 uc003diw.5 AK074423 NM_177966 "CCDS82792|CCDS33772" Q6L8Q7 "15231837|26055709" MGI:2443226 RGD:1310975 616519 HGNC:25386 "ENST00000311180.9|NM_177966.7" +HGNC:30012 PDF peptide deformylase, mitochondrial protein-coding gene gene with protein product Approved 16q22.1 16q22.1 peptide deformylase (mitochondrial) 2006-03-17 2017-08-08 2017-08-08 64146 ENSG00000258429 OTTHUMG00000171336 uc002ewx.1 AF239156 NM_022341 CCDS10875 Q9HBH1 "11060042|15489958" MGI:1915273 RGD:1582894 618720 3.5.1.88 HGNC:30012 "ENST00000288022.2|NM_022341.2" +HGNC:8799 PDGFA platelet derived growth factor subunit A protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "PDGF1|PDGF-A" "PDGF A-chain|platelet-derived growth factor alpha chain" platelet-derived growth factor alpha polypeptide 1986-01-01 2016-01-14 2016-10-05 5154 ENSG00000197461 OTTHUMG00000151412 uc003sis.4 NM_001395363 "CCDS47524|CCDS34578" P04085 "1505216|2536956" MGI:97527 RGD:3282 173430 ligandId:5042 HGNC:8799 +HGNC:55865 PDGFA-DT PDGFA divergent transcript non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 HRAT92 heart tissue-associated transcript 92 Divergent transcripts 1990 2021-09-03 2021-09-06 441307 ENSG00000223855 NR_033963 +HGNC:8800 PDGFB platelet derived growth factor subunit B protein-coding gene gene with protein product Approved 22q13.1 22q13.1 SSV "oncogene SIS|becaplermin" SIS "platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)|platelet-derived growth factor beta polypeptide" 2001-06-22 2016-01-14 2021-05-26 5155 ENSG00000100311 OTTHUMG00000151029 uc003axf.4 NM_002608 "CCDS13987|CCDS33650" P01127 "2991848|1661670" MGI:97528 RGD:3283 PDGFB 190040 168409 ligandId:5043 HGNC:8800 "ENST00000331163.11|NM_002608.4" HGNC:8800 +HGNC:8801 PDGFC platelet derived growth factor C protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "SCDGF|fallotein" 2000-07-31 2016-10-05 56034 ENSG00000145431 OTTHUMG00000161803 uc003iph.3 AF091434 NM_016205 CCDS3795 Q9NRA1 10858496 MGI:1859631 RGD:68410 608452 ligandId:5089 HGNC:8801 "ENST00000502773.6|NM_016205.3" +HGNC:30620 PDGFD platelet derived growth factor D protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "SCDGF-B|MSTP036|IEGF" spinal cord derived growth factor B 2004-01-22 2015-08-25 80310 ENSG00000170962 OTTHUMG00000165953 uc001php.4 AF113216 NM_025208 "CCDS41703|CCDS8326" Q9GZP0 "11162582|11980634" MGI:1919035 RGD:621880 609673 ligandId:5323 HGNC:30620 "ENST00000393158.7|NM_025208.5" +HGNC:8803 PDGFRA platelet derived growth factor receptor alpha protein-coding gene gene with protein product Approved 4q12 04q12 "CD140a|PDGFR2|GAS9" platelet-derived growth factor receptor, alpha polypeptide "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 1989-05-19 2016-01-14 2021-05-26 5156 ENSG00000134853 OTTHUMG00000128699 uc003han.5 D50001 NM_006206 CCDS3495 P16234 8643452 MGI:97530 RGD:3284 LRG_309|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_309.xml PDGFRA 173490 124154 objectId:1803 CD140a HGNC:8803 "ENST00000257290.10|NM_006206.6" HGNC:8803 +HGNC:8804 PDGFRB platelet derived growth factor receptor beta protein-coding gene gene with protein product Approved 5q32 05q32 "JTK12|CD140b|PDGFR1" PDGFR platelet-derived growth factor receptor, beta polypeptide "Receptor tyrosine kinases|CD molecules|I-set domain containing" "321|471|593" 2001-06-22 2016-01-14 2021-05-26 5159 ENSG00000113721 OTTHUMG00000130053 uc003lro.4 M21616 NM_002609 CCDS4303 P09619 MGI:97531 RGD:3285 PDGFRB 173410 138376 objectId:1804 CD140b HGNC:8804 "ENST00000261799.9|NM_002609.4" HGNC:8804 +HGNC:8805 PDGFRL platelet derived growth factor receptor like protein-coding gene gene with protein product Approved 8p22 08p22 PRLTS platelet-derived growth factor receptor-like I-set domain containing 593 1996-10-26 2016-01-14 2016-10-05 5157 ENSG00000104213 OTTHUMG00000130818 uc003wxr.3 D37965 NM_006207 CCDS6003 Q15198 MGI:1916047 RGD:1308028 604584 HGNC:8805 "ENST00000251630.11|NM_001372073.1" +HGNC:54778 PDGFRL2P platelet derived growth factor receptor like 2, pseudogene pseudogene pseudogene Approved 5q33.1 05q33.1 2020-01-09 2020-01-09 116435296 ENSG00000285420 NG_068494 +HGNC:8806 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial PDHA "pyruvate dehydrogenase (lipoamide) alpha 1|pyruvate dehydrogenase alpha 1" Pyruvate dehydrogenase complex 1547 1989-06-30 2019-11-26 2020-04-02 5160 ENSG00000131828 OTTHUMG00000021224 uc011mjc.3 NM_000284 "CCDS55380|CCDS55381|CCDS55382|CCDS14192" P08559 MGI:97532 RGD:3286 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PDHA1 300502 124161 1.2.4.1 HGNC:8806 "ENST00000422285.7|NM_000284.4" HGNC:8806 +HGNC:44636 PDHA1P1 PDHA1 pseudogene 1 pseudogene pseudogene Approved 3p14.3 03p14.3 "pyruvate dehydrogenase (lipoamide) alpha 1 pseudogene 1|pyruvate dehydrogenase alpha 1 pseudogene 1" 2012-11-23 2019-11-26 2019-11-26 100132534 ENSG00000270772 OTTHUMG00000184386 NG_007303 PGOHUM00000299042 HGNC:44636 +HGNC:8807 PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 protein-coding gene gene with protein product Approved 4q22.3 04q22.3 PDHAL "pyruvate dehydrogenase (lipoamide) alpha 2|pyruvate dehydrogenase alpha 2" 1990-07-11 2019-11-26 2019-11-26 5161 ENSG00000163114 OTTHUMG00000130990 uc003htr.5 NM_005390 CCDS3644 P29803 MGI:97533 RGD:620095 179061 1.2.4.1 HGNC:8807 "ENST00000295266.6|NM_005390.5" +HGNC:8808 PDHB pyruvate dehydrogenase E1 subunit beta protein-coding gene gene with protein product Approved 3p14.3 03p14.3 PDHE1B pyruvate dehydrogenase (lipoamide) beta Pyruvate dehydrogenase complex 1547 1989-06-30 2019-11-26 2019-11-26 5162 ENSG00000168291 OTTHUMG00000159157 uc003dkf.4 NM_000925 "CCDS82795|CCDS2890|CCDS54602" P11177 17923481 MGI:1915513 RGD:1359146 179060 124164 1.2.4.1 HGNC:8808 "ENST00000302746.11|NM_000925.4" HGNC:8808 +HGNC:21350 PDHX pyruvate dehydrogenase complex component X protein-coding gene gene with protein product Approved 11p13 11p13 "E3BP|proX|PDX1|OPDX|DLDBP" "Pyruvate dehydrogenase complex|MicroRNA protein coding host genes" "1547|1691" 2003-06-24 2015-11-20 2015-11-20 8050 ENSG00000110435 OTTHUMG00000166491 uc001mvt.4 U82328 NM_003477 "CCDS7896|CCDS53616" O00330 "9467010|12372595" MGI:1351627 RGD:1566332 608769 124166 HGNC:21350 "ENST00000227868.9|NM_003477.3" HGNC:21350 +HGNC:14180 PDIA2 protein disulfide isomerase family A member 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "PDA2|PDI|PDIR" PDIP "protein disulfide isomerase, pancreatic|protein disulfide isomerase-associated 2|protein disulfide isomerase family A, member 2" Protein disulfide isomerases 692 2000-12-21 2005-03-03 2015-11-16 2015-11-16 64714 ENSG00000185615 OTTHUMG00000064891 uc002cgo.2 U19948 NM_006849 CCDS42089 Q13087 8561901 MGI:1916441 RGD:1305164 608012 5.3.4.1 HGNC:14180 "ENST00000219406.11|NM_006849.4" +HGNC:4606 PDIA3 protein disulfide isomerase family A member 3 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "P58|ERp61|ERp57|ERp60|GRP57|PI-PLC|HsT17083" GRP58 "glucose regulated protein, 58kDa|protein disulfide isomerase-associated 3|protein disulfide isomerase family A, member 3" Protein disulfide isomerases 692 1997-06-09 2005-03-03 2015-11-16 2016-10-05 2923 ENSG00000167004 OTTHUMG00000044444 uc001zsu.4 NM_005313 CCDS10101 P30101 8974399 MGI:95834 RGD:68430 602046 5.3.4.1 HGNC:4606 "ENST00000300289.10|NM_005313.5" +HGNC:4607 PDIA3P1 protein disulfide isomerase family A member 3 pseudogene 1 pseudogene pseudogene Approved 1q21.1 01q21.1 GRP58P glucose regulated protein, 58kDa pseudogene PDIA3P "protein disulfide isomerase-associated 3 pseudogene|protein disulfide isomerase family A, member 3 pseudogene|protein disulfide isomerase family A, member 3 pseudogene 1" 1997-07-22 2013-10-28 2015-11-16 2015-11-16 171423 ENSG00000180867 OTTHUMG00000041049 U75886 NR_002305 9205111 PGOHUM00000244962 HGNC:4607 +HGNC:49403 PDIA3P2 protein disulfide isomerase family A member 3 pseudogene 2 pseudogene pseudogene Approved 15q15.3 15q15.3 protein disulfide isomerase family A, member 3 pseudogene 2 2013-10-28 2015-11-16 2015-11-16 106481687 ENSG00000224677 OTTHUMG00000059904 NG_045314 PGOHUM00000247100 HGNC:49403 +HGNC:30167 PDIA4 protein disulfide isomerase family A member 4 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "ERP70|ERP72" "protein disulfide isomerase-associated 4|protein disulfide isomerase family A, member 4" Protein disulfide isomerases 692 2005-03-02 2015-11-16 2016-10-05 9601 ENSG00000155660 OTTHUMG00000150248 uc003wff.3 BC001928 NM_004911 CCDS5893 P13667 "2549034|2002068" MGI:104864 RGD:619835 5.3.4.1 HGNC:30167 "ENST00000652332.1|NM_004911.5" +HGNC:24811 PDIA5 protein disulfide isomerase family A member 5 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "PDIR|FLJ30401" "protein disulfide isomerase-associated 5|protein disulfide isomerase family A, member 5" "Protein disulfide isomerases|MicroRNA protein coding host genes" "692|1691" 2005-03-02 2015-11-16 2015-11-16 10954 ENSG00000065485 OTTHUMG00000159558 uc003egc.3 AK054963 NM_006810 CCDS3020 Q14554 7556671 MGI:1919849 RGD:1359236 616942 5.3.4.1 HGNC:24811 "ENST00000316218.12|NM_006810.4" +HGNC:30168 PDIA6 protein disulfide isomerase family A member 6 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "P5|ERp5" protein disulfide isomerase-related protein TXNDC7 "thioredoxin domain containing 7 (protein disulfide isomerase)|protein disulfide isomerase-associated 6|protein disulfide isomerase family A, member 6" "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2004-03-11 2005-03-03 2015-11-16 2015-11-16 10130 ENSG00000143870 OTTHUMG00000090479 uc002raw.4 BC001312 NM_005742 "CCDS62853|CCDS62854|CCDS1675|CCDS62855|CCDS62852" Q15084 "7590364|12204115" MGI:1919103 RGD:628688 611099 5.3.4.1 HGNC:30168 "ENST00000272227.8|NM_005742.4" +HGNC:18981 PDIK1L PDLIM1 interacting kinase 1 like protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CLIK1L 2004-11-26 2016-10-05 149420 ENSG00000175087 OTTHUMG00000007511 uc010oew.3 AF411102 NM_152835 CCDS274 Q8N165 14631099 MGI:2385213 RGD:1307476 610785 objectId:2141 HGNC:18981 "ENST00000374269.2|NM_152835.5" +HGNC:27338 PDILT protein disulfide isomerase like, testis expressed protein-coding gene gene with protein product Approved 16p12.3 16p12.3 PDIA7 "protein disulfide isomerase family A, member 7|protein disulfide isomerase-like protein of the testis" protein disulfide isomerase-like, testis expressed Protein disulfide isomerases 692 2009-02-20 2016-03-29 2016-03-29 204474 ENSG00000169340 OTTHUMG00000131487 uc002dhc.2 NM_174924 CCDS10584 Q8N807 15475357 MGI:1919080 RGD:1307822 618588 HGNC:27338 "ENST00000302451.9|NM_174924.2" +HGNC:8809 PDK1 pyruvate dehydrogenase kinase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "pyruvate dehydrogenase kinase, isoenzyme 1|pyruvate dehydrogenase kinase, isozyme 1" 1996-08-14 2016-01-06 2016-01-06 5163 ENSG00000152256 OTTHUMG00000132285 uc002uhs.5 L42450 NM_002610 "CCDS2250|CCDS63059" Q15118 7499431 MGI:1926119 RGD:69427 602524 objectId:2915 HGNC:8809 "ENST00000282077.8|NM_002610.5" +HGNC:40441 PDK1-AS1 PDK1 and ITGA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 Antisense RNAs 1987 2021-12-02 2021-12-02 123706517 ENSG00000225205 OTTHUMG00000154088 +HGNC:49808 PDK1P1 pyruvate dehydrogenase kinase 1 pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 pyruvate dehydrogenase kinase, isozyme 1 pseudogene 1 2014-03-06 2016-01-06 2016-01-06 100421194 NG_023886 PGOHUM00000236421 HGNC:49808 +HGNC:55004 PDK1P2 PDK1 pseudogene 2 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 2020-05-20 2020-05-20 100129843 ENSG00000233446 NG_022677 +HGNC:8810 PDK2 pyruvate dehydrogenase kinase 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 PDHK2 "pyruvate dehydrogenase kinase, isoenzyme 2|pyruvate dehydrogenase kinase, isozyme 2" 1996-08-14 2016-01-06 2016-01-06 5164 ENSG00000005882 OTTHUMG00000161948 uc002iqc.4 L42451 NM_002611 "CCDS11559|CCDS56039" Q15119 7499431 MGI:1343087 RGD:69428 602525 objectId:2142 HGNC:8810 "ENST00000503176.6|NM_002611.5" +HGNC:8811 PDK3 pyruvate dehydrogenase kinase 3 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "pyruvate dehydrogenase kinase, isoenzyme 3|pyruvate dehydrogenase kinase, isozyme 3" 1996-08-14 2016-01-06 2020-04-02 5165 ENSG00000067992 OTTHUMG00000021269 uc004dbg.4 L42452 NM_005391 "CCDS14212|CCDS48088" Q15120 7499431 MGI:2384308 RGD:1593276 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PDK3 300906 356172 objectId:2143 HGNC:8811 "ENST00000379162.9|NM_005391.5" HGNC:8811 +HGNC:8812 PDK4 pyruvate dehydrogenase kinase 4 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "pyruvate dehydrogenase kinase, isoenzyme 4|pyruvate dehydrogenase kinase, isozyme 4" 1996-08-14 2016-01-06 2016-10-05 5166 ENSG00000004799 OTTHUMG00000153977 uc003uoa.4 U54617 NM_002612 CCDS5643 Q16654 7499431 MGI:1351481 RGD:69061 602527 objectId:2144 HGNC:8812 "ENST00000005178.6|NM_002612.4" +HGNC:55767 PDK4-AS1 PDK4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 Antisense RNAs 1987 2021-07-22 2021-07-22 107986824 ENSG00000231170 XR_001745287 +HGNC:2067 PDLIM1 PDZ and LIM domain 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "CLP-36|hCLIM1|CLP36" "carboxyl terminal LIM domain protein 1|elfin" CLIM1 PDZ and LIM domain 1 (elfin) "LIM domain containing|PDZ domain containing" "1218|1220" 1998-01-21 2008-07-29 2016-10-05 9124 ENSG00000107438 OTTHUMG00000018810 uc001kkh.5 U90878 NM_020992 CCDS7441 O00151 10861853 MGI:1860611 RGD:68324 605900 HGNC:2067 "ENST00000329399.7|NM_020992.4" +HGNC:20026 PDLIM1P1 PDZ and LIM domain 1 pseudogene 1 pseudogene pseudogene Approved 14q21.3 14q21.3 PDLIM1P PDZ and LIM domain 1 pseudogene 2003-01-13 2013-07-22 2013-07-22 2014-11-19 326616 ENSG00000270788 OTTHUMG00000184391 NG_002606 PGOHUM00000248164 HGNC:20026 +HGNC:48945 PDLIM1P2 PDZ and LIM domain 1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2013-07-22 2013-07-22 100419426 ENSG00000265881 OTTHUMG00000179030 NG_026158 PGOHUM00000236979 HGNC:48945 +HGNC:48946 PDLIM1P3 PDZ and LIM domain 1 pseudogene 3 pseudogene pseudogene Approved 17q11.1 17q11.1 2013-07-22 2013-07-22 100419427 ENSG00000264172 OTTHUMG00000179165 NG_026160 PGOHUM00000236993 HGNC:48946 +HGNC:48947 PDLIM1P4 PDZ and LIM domain 1 pseudogene 4 pseudogene pseudogene Approved 3q12.1 03q12.1 2013-07-22 2013-07-22 100419185 ENSG00000249274 OTTHUMG00000159051 NG_025722 PGOHUM00000238114 HGNC:48947 +HGNC:13992 PDLIM2 PDZ and LIM domain 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 mystique "LIM domain containing|PDZ domain containing" "1218|1220" 2000-12-08 2016-02-16 2016-04-25 64236 ENSG00000120913 OTTHUMG00000164270 uc064laq.1 AY007729 NM_001368120 "CCDS34861|CCDS34860|CCDS6032" Q96JY6 MGI:2384850 RGD:1359203 609722 HGNC:13992 +HGNC:20767 PDLIM3 PDZ and LIM domain 3 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 ALP "LIM domain containing|PDZ domain containing" "1218|1220" 2004-02-06 2021-04-13 27295 ENSG00000154553 OTTHUMG00000160412 uc003ixw.5 AF002280 NM_014476 "CCDS75219|CCDS3844|CCDS47172|CCDS75218" Q53GG5 "10063829|8828038" MGI:1859274 RGD:620427 LRG_752|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_752.xml 605889 470844 HGNC:20767 "ENST00000284767.12|NM_014476.6" HGNC:20767 +HGNC:16501 PDLIM4 PDZ and LIM domain 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 RIL "LIM domain containing|PDZ domain containing" "1218|1220" 2004-02-12 2014-11-19 8572 ENSG00000131435 OTTHUMG00000059645 uc003kwn.4 AF153882 NM_003687 "CCDS47261|CCDS4152" P50479 9573374 MGI:1353470 RGD:3575 603422 HGNC:16501 "ENST00000253754.8|NM_003687.4" +HGNC:17468 PDLIM5 PDZ and LIM domain 5 protein-coding gene gene with protein product Approved 4q22.3 04q22.3 "LIM|Enh" "LIM domain containing|PDZ domain containing" "1218|1220" 2005-01-12 2016-10-05 10611 ENSG00000163110 OTTHUMG00000130973 uc003hti.5 AF061258 NM_001011513 "CCDS47103|CCDS3641|CCDS75166|CCDS58916|CCDS58917|CCDS47102|CCDS58915|CCDS47104" Q96HC4 15346770 MGI:1927489 RGD:621076 605904 HGNC:17468 "ENST00000317968.9|NM_006457.5" +HGNC:22958 PDLIM7 PDZ and LIM domain 7 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 ENIGMA PDZ and LIM domain 7 (enigma) "LIM domain containing|PDZ domain containing" "1218|1220" 2004-02-11 2015-11-26 2015-11-26 9260 ENSG00000196923 OTTHUMG00000130853 uc003mhc.3 BC001093 NM_005451 "CCDS4422|CCDS4423|CCDS4424" Q9NR12 11874232 MGI:1914649 RGD:628769 605903 470846 HGNC:22958 "ENST00000355841.7|NM_005451.5" +HGNC:41004 PDLIM7-AS1 PDLIM7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Antisense RNAs 1987 2021-04-23 2021-04-23 121232374 ENSG00000248996 OTTHUMG00000163398 +HGNC:9279 PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "PDP|PDH|PPM2A" protein phosphatase, Mg2+/Mn2+ dependent 2A PPM2C protein phosphatase 2C, magnesium-dependent, catalytic subunit Protein phosphatases, Mg2+/Mn2+ dependent 701 1994-07-06 2009-06-12 2021-02-11 2021-02-11 54704 ENSG00000164951 OTTHUMG00000164356 uc003yge.4 AF155661 NM_018444 "CCDS6259|CCDS55262" Q9P0J1 8396421 MGI:2685870 RGD:620393 605993 158072 3.1.3.43 HGNC:9279 "ENST00000297598.5|NM_018444.4" HGNC:9279 +HGNC:30263 PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "KIAA1348|PPM2C2|PPM2B" "protein phosphatase 2C, magnesium-dependent, catalytic subunit 2|protein phosphatase, Mg2+/Mn2+ dependent 2B|[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase" Protein phosphatases, Mg2+/Mn2+ dependent 701 2009-06-12 2022-03-23 2022-03-23 57546 ENSG00000172840 OTTHUMG00000137512 uc002eqk.3 AB037769 NM_020786 CCDS10822 Q9P2J9 9651365 MGI:1918878 RGD:628812 LRG_1088|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1088.xml 615499 3.1.3.43 HGNC:30263 "ENST00000311765.4|NM_020786.4" +HGNC:8816 PDPK1 3-phosphoinositide dependent protein kinase 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 PDK1 PkB kinase AGC family kinases 1625 1998-03-23 2014-03-20 2015-08-25 5170 ENSG00000140992 OTTHUMG00000128874 uc002cqs.5 AF017995 NM_001261816 "CCDS10472|CCDS10473|CCDS58411" O15530 "9094314|9445477" MGI:1338068 RGD:620307 605213 objectId:1519 HGNC:8816 "ENST00000342085.9|NM_002613.5" +HGNC:49897 PDPK2P 3-phosphoinositide dependent protein kinase 2, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 2014-03-20 2019-08-08 653650 ENSG00000205918 OTTHUMG00000177286 NG_005595 Q6A1A2 31368655 MGI:1338068 PGOHUM00000262269 HGNC:49897 +HGNC:29602 PDPN podoplanin protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "T1A-2|Gp38|aggrus|GP40|PA2.26|D2-40" lung type I cell membrane associated glycoprotein 2005-07-08 2021-10-18 10630 ENSG00000162493 OTTHUMG00000007912 uc001avd.4 "AB127958|AY194238" NM_006474 "CCDS41266|CCDS44060|CCDS53270" Q86YL7 "10393083|9651190" MGI:103098 RGD:61819 608863 HGNC:29602 "ENST00000621990.5|NM_006474.5" +HGNC:30264 PDPR pyruvate dehydrogenase phosphatase regulatory subunit protein-coding gene gene with protein product Approved 16q22.1 16q22.1 PDP3 2010-08-24 2015-08-25 55066 ENSG00000090857 OTTHUMG00000176963 uc002eyf.2 NM_017990 "CCDS45520|CCDS82007" Q8NCN5 9395502 MGI:2442188 RGD:1308307 617835 HGNC:30264 "ENST00000288050.9|NM_017990.5" +HGNC:27556 PDPR2P pyruvate dehydrogenase phosphatase regulatory subunit 2, pseudogene pseudogene pseudogene Approved 16q23.1 16q23.1 2020-11-11 2020-11-11 283922 ENSG00000214331 NR_026950 +HGNC:16119 PDRG1 p53 and DNA damage regulated 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 dJ310O13.3 C20orf126 "chromosome 20 open reading frame 126|p53 and DNA-damage regulated 1" 2001-07-17 2004-10-07 2015-11-16 2015-11-16 81572 ENSG00000088356 OTTHUMG00000032196 uc002wxd.4 AL031658 NM_030815 CCDS13194 Q9NUG6 14562055 MGI:1915809 RGD:1305096 610789 HGNC:16119 "ENST00000202017.6|NM_030815.3" +HGNC:29088 PDS5A PDS5 cohesin associated factor A protein-coding gene gene with protein product Approved 4p14 04p14 "KIAA0648|PIG54|SCC-112" PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) Armadillo like helical domain containing 1492 2007-06-20 2014-11-17 2014-11-19 23244 ENSG00000121892 OTTHUMG00000160582 uc003guv.4 AF294791 NM_015200 "CCDS54759|CCDS47045" Q29RF7 "11076961|15855230|24141881" MGI:1918771 RGD:1307094 613200 470848 HGNC:29088 "ENST00000303538.13|NM_001100399.2" +HGNC:20418 PDS5B PDS5 cohesin associated factor B protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "AS3|KIAA0979|FLJ23236|CG008" APRIN "androgen-induced proliferation inhibitor|PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)" Armadillo like helical domain containing 1492 2003-02-24 2007-07-18 2014-11-17 2016-10-05 23047 ENSG00000083642 OTTHUMG00000016704 uc010abf.4 AB023196 NM_015032 CCDS41878 Q9NTI5 "8812419|10215036|24141881" MGI:2140945 RGD:1310838 605333 470850 HGNC:20418 "ENST00000315596.15|NM_015032.4" +HGNC:55744 PDS5B-DT PDS5B divergent transcript non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 Linc1749808 Divergent transcripts 1990 2021-07-20 2021-07-20 107984584 XR_001749808 34196215 +HGNC:17759 PDSS1 decaprenyl diphosphate synthase subunit 1 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "TPT|COQ1|COQ1A" coenzyme Q1 homolog (yeast) TPRT "trans-prenyltransferase|prenyl (decaprenyl) diphosphate synthase, subunit 1" 2004-01-29 2006-02-14 2016-11-30 2019-03-13 23590 ENSG00000148459 OTTHUMG00000017844 uc001isv.4 AF118395 NM_001321978 CCDS31168 Q5T2R2 10972372 MGI:1889278 RGD:2319976 607429 252458 2.5.1.91 HGNC:17759 "ENST00000376215.10|NM_014317.5" HGNC:17759 +HGNC:49740 PDSS1P1 decaprenyl diphosphate synthase subunit 1 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 prenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 1 2014-02-13 2016-11-30 2016-11-30 100129248 ENSG00000182347 OTTHUMG00000019488 NG_017146 PGOHUM00000263211 HGNC:49740 +HGNC:49741 PDSS1P2 decaprenyl diphosphate synthase subunit 1 pseudogene 2 pseudogene pseudogene Approved 2p21 not on reference assembly 02p21 not on reference assembly prenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 2 2014-02-13 2016-11-30 2016-11-30 100996500 ENSG00000224637 OTTHUMG00000152784 PGOHUM00000250455 +HGNC:23041 PDSS2 decaprenyl diphosphate synthase subunit 2 protein-coding gene gene with protein product Approved 6q21 06q21 "bA59I9.3|COQ1B" C6orf210 "chromosome 6 open reading frame 210|prenyl (decaprenyl) diphosphate synthase, subunit 2" 2003-11-26 2006-02-14 2016-11-30 2019-03-13 57107 ENSG00000164494 OTTHUMG00000059359 uc003prt.3 AF254956 NM_020381 CCDS5059 Q86YH6 16262699 MGI:1918615 RGD:1359372 610564 205928 HGNC:23041 "ENST00000369037.9|NM_020381.4" HGNC:23041 +HGNC:6107 PDX1 pancreatic and duodenal homeobox 1 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "IDX-1|STF-1|PDX-1|MODY4|GSF|IUF-1" "Islet/duodenum homeobox-1|somatostatin transcription factor 1|Glucose-sensitive factor|insulin upstream factor 1" IPF1 insulin promoter factor 1, homeodomain transcription factor HOXL subclass homeoboxes 518 1995-01-30 2006-12-01 2006-12-01 2021-12-07 3651 ENSG00000139515 OTTHUMG00000016638 uc001urt.3 AF035260 NM_000209 CCDS9327 P52945 7590740 MGI:102851 RGD:62387 600733 8544 124173 HGNC:6107 "ENST00000381033.5|NM_000209.4" HGNC:6107 +HGNC:28995 PDXDC1 pyridoxal dependent decarboxylase domain containing 1 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 KIAA0251 2007-03-26 2016-06-08 2016-06-08 23042 ENSG00000179889 OTTHUMG00000166304 uc002dda.6 "AK025504|BX647809" NM_015027 "CCDS73831|CCDS66955|CCDS66957|CCDS32393|CCDS66954|CCDS73830" Q6P996 MGI:1920909 RGD:1562597 614244 HGNC:28995 "ENST00000396410.9|NM_015027.4" +HGNC:27559 PDXDC2P pyridoxal dependent decarboxylase domain containing 2, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 DKFZp761H1120 PDXDC2 pyridoxal-dependent decarboxylase domain containing 2 2007-03-26 2010-09-02 2016-06-08 2020-04-21 109731405 ENSG00000255185 OTTHUMG00000167595 uc002eyc.4 NG_052916 Q6P474 PGOHUM00000293643 HGNC:27559 +HGNC:8819 PDXK pyridoxal kinase protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "PNK|PKH|FLJ21324|PRED79|FLJ31940|MGC15873" "C21orf97|C21orf124" "chromosome 21 open reading frame 97|chromosome 21 open reading frame 124|pyridoxal (pyridoxine, vitamin B6) kinase" 1998-12-03 2017-01-11 2017-01-11 8566 ENSG00000160209 OTTHUMG00000086870 uc002zdm.5 U89606 NM_003681 "CCDS82679|CCDS13699" O00764 9099727 MGI:1351869 RGD:621324 179020 2.7.1.35 HGNC:8819 "ENST00000291565.9|NM_003681.5" HGNC:8819 +HGNC:30259 PDXP pyridoxal phosphatase protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "dJ37E16.5|FLJ32703|CIN" chronophin pyridoxal (pyridoxine, vitamin B6) phosphatase HAD Asp-based protein phosphatases 702 2004-02-11 2016-01-18 2016-10-05 57026 ENSG00000241360 OTTHUMG00000044618 uc003atm.2 BC064922 NM_020315 CCDS13953 Q96GD0 "14522954|15580268" MGI:1919282 RGD:1586212 609246 3.1.3.74 HGNC:30259 "ENST00000215904.7|NM_020315.5" +HGNC:40525 PDXP-DT PDXP divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 Divergent transcripts 1990 2020-03-19 2020-03-19 101927051 ENSG00000233360 OTTHUMG00000150662 NR_109952 +HGNC:8820 PDYN prodynorphin protein-coding gene gene with protein product Approved 20p13 20p13 "PENKB|ADCA" "preproenkephalin B|rimorphin|beta-neoendorphin|dynorphin|leu-enkephalin|leumorphin|neoendorphin-dynorphin-enkephalin prepropeptide" SCA23 spinocerebellar ataxia 23 Neuropeptides 1902 2001-06-22 2021-04-13 5173 ENSG00000101327 OTTHUMG00000031683 uc021vzu.2 NM_001190892 CCDS13023 P01213 21035104 MGI:97535 RGD:62054 LRG_667|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_667.xml 131340 212594 ligandId:3669 HGNC:8820 "ENST00000217305.3|NM_024411.5" HGNC:8820 +HGNC:53462 PDYN-AS1 PDYN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 Antisense RNAs 1987 2017-04-27 2017-04-27 727993 ENSG00000233896 OTTHUMG00000129569 NR_134520 HGNC:53462 +HGNC:18486 PDZD2 PDZ domain containing 2 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 KIAA0300 PDZK3 PDZ domain containing 3 PDZ domain containing 1220 2002-04-10 2006-01-24 2006-01-24 2016-10-25 23037 ENSG00000133401 OTTHUMG00000161981 uc003jhl.4 AB002298 NM_178140 CCDS34137 O15018 9205841 MGI:1922394 RGD:619958 610697 HGNC:18486 "ENST00000438447.2|NM_178140.4" +HGNC:19891 PDZD3 PDZ domain containing 3 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "FLJ22756|IKEPP|NHERF4" PDZK2 PDZ domain containing 2 PDZ domain containing 1220 2003-01-13 2006-01-24 2006-01-24 2022-03-24 79849 ENSG00000172367 OTTHUMG00000166224 uc001pvz.4 AK091966 NM_024791 "CCDS8417|CCDS53719" Q86UT5 11950846 MGI:2429554 RGD:1559807 607146 HGNC:19891 "ENST00000355547.10|NM_001168468.2" +HGNC:21167 PDZD4 PDZ domain containing 4 protein-coding gene gene with protein product Approved Xq28 Xq28 "KIAA1444|LU1|FLJ34125|PDZRN4L|LNX5" PDZK4 PDZ domain containing 1220 2004-04-20 2006-01-24 2016-05-23 57595 ENSG00000067840 OTTHUMG00000024209 uc004fiz.2 AK091444 NM_032512 "CCDS78518|CCDS14732|CCDS78517" Q76G19 "10819331|15077175" MGI:2443483 RGD:1561214 300634 HGNC:21167 "ENST00000393758.7|NM_001303512.2" +HGNC:26257 PDZD7 PDZ domain containing 7 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FLJ23209|bA108L7.8" "PDZK7|DFNB57" deafness, autosomal recessive 57 "PDZ domain containing|USH2 complex " "1220|1244" 2004-02-17 2006-01-24 2016-10-13 79955 ENSG00000186862 OTTHUMG00000018916 uc001kso.3 AK026862 NM_024895 "CCDS73182|CCDS31269" Q9H5P4 26416264 MGI:3608325 RGD:1309882 612971 239898 HGNC:26257 "ENST00000619208.6|NM_001195263.2" HGNC:26257 +HGNC:26974 PDZD8 PDZ domain containing 8 protein-coding gene gene with protein product Approved 10q25.3-q26.11 10q25.3-q26.11 "bA129M16.2|FLJ34427" PDZK8 PDZ domain containing 1220 2004-03-16 2006-01-24 2020-01-09 118987 ENSG00000165650 OTTHUMG00000019122 uc001lde.2 AL122051 NM_173791 CCDS7600 Q8NEN9 "20573829|29097544|31636202" MGI:2677270 RGD:1308622 614235 HGNC:26974 "ENST00000334464.7|NM_173791.5" +HGNC:28740 PDZD9 PDZ domain containing 9 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 MGC50721 C16orf65 chromosome 16 open reading frame 65 PDZ domain containing 1220 2006-03-22 2010-04-14 2010-04-14 2016-10-05 255762 ENSG00000155714 OTTHUMG00000131586 uc059rxp.1 BC039562 NM_173806 CCDS10602 Q8IXQ8 12477932 MGI:1915233 RGD:1560558 HGNC:28740 "ENST00000424898.3|NM_001363519.1" +HGNC:28034 PDZD11 PDZ domain containing 11 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 PDZK11 PDZ domain containing 1220 2004-09-15 2006-01-24 2015-08-25 51248 ENSG00000120509 OTTHUMG00000021771 uc004dyd.2 AF151061 NM_016484 CCDS14400 Q5EBL8 "11042152|12975309" MGI:1919871 RGD:1560007 300632 objectId:3150 HGNC:28034 "ENST00000239666.9|NM_016484.5" +HGNC:8821 PDZK1 PDZ domain containing 1 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "PDZD1|NHERF3" PDZ domain containing 1220 1998-07-15 2016-10-05 5174 ENSG00000174827 OTTHUMG00000013735 uc001eoo.3 AF012281 NM_002614 "CCDS72859|CCDS72860" Q5T2W1 9461128 MGI:1928901 RGD:70924 603831 HGNC:8821 "ENST00000417171.6|NM_001201325.2" +HGNC:16887 PDZK1IP1 PDZK1 interacting protein 1 protein-coding gene gene with protein product Approved 1p33 01p33 "DD96|MAP17|SPAP" 2005-04-14 2014-11-19 10158 ENSG00000162366 OTTHUMG00000007852 uc057ghl.1 U21049 NM_005764 CCDS546 Q13113 "9815914|8701988|12754212|12837682" MGI:1914432 RGD:620952 607178 HGNC:16887 "ENST00000294338.7|NM_005764.4" +HGNC:31974 PDZK1P1 PDZ domain containing 1 pseudogene 1 pseudogene pseudogene Approved 1q21.2 01q21.2 "OTTHUMT00000038524|OTTHUMG00000074107" PDZK1P2 PDZ domain containing 1 pseudogene 2 2007-03-19 2020-04-20 100034743 ENSG00000215859 OTTHUMG00000013940 AL390725 NR_111936 A8MUH7 PGOHUM00000295880 HGNC:31974 +HGNC:51488 PDZPH1P PDZ and pleckstrin homology domains 1, pseudogene pseudogene pseudogene Approved 5q21.2 05q21.2 PDZ domain containing 1220 2015-01-19 2015-01-19 105379197 ENSG00000226926 OTTHUMG00000154669 NG_046694 MGI:1916489 HGNC:51488 +HGNC:17704 PDZRN3 PDZ domain containing ring finger 3 protein-coding gene gene with protein product Approved 3p13 03p13 "KIAA1095|SEMACAP3|LNX3|SEMCAP3" likely ortholog of mouse semaF cytoplasmic domain associated protein 3 "Ring finger proteins|PDZ domain containing" "58|1220" 2004-04-20 2008-08-14 2019-01-17 23024 ENSG00000121440 OTTHUMG00000158865 uc003dpl.2 AB029018 NM_015009 "CCDS33789|CCDS77771|CCDS77770" Q9UPQ7 10470851 MGI:1933157 RGD:1305250 609729 HGNC:17704 "ENST00000263666.9|NM_015009.3" +HGNC:40814 PDZRN3-AS1 PDZRN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p13 03p13 PDZRN3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 101927249 ENSG00000239677 OTTHUMG00000158864 uc062lol.1 NR_046681 PDZRN3-AS1 HGNC:40814 +HGNC:30552 PDZRN4 PDZ domain containing ring finger 4 protein-coding gene gene with protein product Approved 12q12 12q12 "DKFZp434B0417|LNX4|FLJ33777|IMAGE5767589" similar to semaF cytoplasmic domain associated protein 3 "Ring finger proteins|PDZ domain containing" "58|1220" 2004-04-20 2008-08-14 2019-08-21 29951 ENSG00000165966 OTTHUMG00000169364 uc010skn.3 AK094690 NM_013377 "CCDS8739|CCDS53777" Q6ZMN7 "11230166|15010864" MGI:3056996 RGD:1308860 609730 HGNC:30552 "ENST00000402685.7|NM_001164595.2" +HGNC:8822 PEA15 proliferation and apoptosis adaptor protein 15 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "HMAT1|MAT1|PED|PEA-15|MAT1H|HUMMAT1H|PED-PEA15|PED/PEA15" "Phosphoprotein enriched in astrocytes, 15kD|homolog of mouse MAT-1 oncogene|Phosphoprotein enriched in diabetes" "phosphoprotein enriched in astrocytes 15|proliferation and apoptosis adaptor 15" Death effector domain containing 1019 1998-11-06 2017-08-10 2017-08-10 8682 ENSG00000162734 OTTHUMG00000031605 uc001fvk.4 Y13736 NM_003768 "CCDS76227|CCDS72954|CCDS1199" Q15121 "26317969|25489735|28216548" MGI:104799 RGD:1306055 603434 HGNC:8822 "ENST00000360472.9|NM_003768.5" +HGNC:29431 PEAK1 pseudopodium enriched atypical kinase 1 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "KIAA2002|sgk269" 2013-09-27 2016-01-13 2016-01-13 79834 ENSG00000173517 OTTHUMG00000172618 NM_001385026 CCDS42062 Q9H792 "16879967|20534451" MGI:2442366 RGD:1312026 614248 HGNC:29431 "ENST00000682557.1|NM_001385026.1" +HGNC:24793 PEAK3 PEAK family member 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ45778 C19orf35 chromosome 19 open reading frame 35 2004-07-30 2017-08-03 2017-08-03 2019-08-12 374872 ENSG00000188305 OTTHUMG00000178460 uc002lvn.3 AK127680 NM_198532 CCDS12087 Q6ZS72 "30906642|31311869" 618526 HGNC:24793 "ENST00000342063.5|NM_198532.3" +HGNC:33631 PEAR1 platelet endothelial aggregation receptor 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "JEDI|FLJ00193" MEGF12 multiple EGF-like-domains 12 2007-10-18 2007-10-25 2007-10-25 2014-11-19 375033 ENSG00000187800 OTTHUMG00000041293 uc057mdp.1 AK098809 NM_001080471 CCDS30892 Q5VY43 15851471 MGI:1920432 RGD:1305653 610278 HGNC:33631 "ENST00000292357.8|NM_001080471.3" +HGNC:8630 PEBP1 phosphatidylethanolamine binding protein 1 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "RKIP|HCNP|PEBP" "Raf kinase inhibitory protein|hippocampal cholinergic neurostimulating peptide" PBP prostatic binding protein 1988-04-15 2006-02-16 2006-02-16 2016-10-05 5037 ENSG00000089220 OTTHUMG00000168860 uc001twu.2 X85033 NM_002567 CCDS9187 P30086 15782137 MGI:1344408 RGD:62017 604591 I51.002 HGNC:8630 "ENST00000261313.3|NM_002567.4" +HGNC:20054 PEBP1P1 phosphatidylethanolamine binding protein 1 pseudogene 1 pseudogene pseudogene Approved 14q32.2 14q32.2 PBPP1 prostatic binding protein pseudogene 1 2003-01-13 2010-01-06 2010-01-06 2014-11-19 326614 ENSG00000259059 OTTHUMG00000171438 NG_054631 PGOHUM00000247888 HGNC:20054 +HGNC:44344 PEBP1P2 phosphatidylethanolamine binding protein 1 pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2012-08-15 2020-09-25 647307 ENSG00000270532 OTTHUMG00000184503 NG_021511 32916601 PGOHUM00000297942 HGNC:44344 +HGNC:44345 PEBP1P3 phosphatidylethanolamine binding protein 1 pseudogene 3 pseudogene pseudogene Approved 1q31.3 01q31.3 2012-08-15 2014-11-21 100129570 ENSG00000236278 OTTHUMG00000035657 NG_027979 PGOHUM00000244386 HGNC:44345 +HGNC:28319 PEBP4 phosphatidylethanolamine binding protein 4 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "MGC22776|CORK1|hPEBP4" cousin-of-RKIP 1 protein 2009-07-09 2015-11-20 2015-11-20 157310 ENSG00000134020 OTTHUMG00000163749 uc003xcn.2 BC020779 NM_144962 CCDS43724 Q96S96 "15302887|16865237" MGI:1920773 RGD:1593295 612473 HGNC:28319 "ENST00000256404.8|NM_144962.3" +HGNC:8823 PECAM1 platelet and endothelial cell adhesion molecule 1 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 CD31 CD31 antigen platelet/endothelial cell adhesion molecule 1 "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1995-11-29 2016-04-01 2019-08-21 5175 ENSG00000261371 OTTHUMG00000175829 uc032fos.2 "L34631|M37780" NM_000442 CCDS74132 P16284 "8661055|1690453" MGI:97537 RGD:61927 173445 CD31 HGNC:8823 "ENST00000563924.6|NM_000442.5" +HGNC:18281 PECR peroxisomal trans-2-enoyl-CoA reductase protein-coding gene gene with protein product Approved 2q35 02q35 "HSA250303|TERP|SDR29C1" short chain dehydrogenase/reductase family 29C, member 1 Short chain dehydrogenase/reductase superfamily 743 2004-01-09 2014-11-19 55825 ENSG00000115425 OTTHUMG00000154825 uc002vft.4 AF119841 NM_018441 CCDS33375 Q9BY49 "10811639|11669066|19027726" MGI:2148199 RGD:70925 605843 1.3.1.38 HGNC:18281 "ENST00000265322.8|NM_018441.6" +HGNC:16735 PEDS1 plasmanylethanolamine desaturase 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "Kua|CarF" TMEM189 transmembrane protein 189 2007-07-27 2020-05-27 2020-05-27 2020-05-27 387521 ENSG00000240849 OTTHUMG00000152625 uc002xvg.3 AF155120 NM_199129 "CCDS13428|CCDS54473" A5PLL7 "11076860|31604315|32209662" MGI:2142624 RGD:1309093 610994 1.14.99.19 HGNC:16735 "ENST00000371652.9|NM_199129.4" +HGNC:33521 PEDS1-UBE2V1 PEDS1-UBE2V1 readthrough other readthrough Approved 20q13.13 20q13.13 "Kua-UEV|CROC-1B" TMEM189-UBE2V1 TMEM189-UBE2V1 readthrough 2007-07-31 2020-05-27 2020-05-27 2020-05-27 387522 ENSG00000124208 OTTHUMG00000033085 uc002xvf.4 U39361 NM_199203 11076860 "MGI:1913839|MGI:2142624" HGNC:33521 +HGNC:30009 PEF1 penta-EF-hand domain containing 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 PEF1A peflin EF-hand domain containing 863 2005-05-09 2016-10-05 553115 ENSG00000162517 OTTHUMG00000003877 uc001bth.3 NM_012392 CCDS345 Q9UBV8 "10486255|11883899" MGI:1915148 RGD:1359536 610033 HGNC:30009 "ENST00000373703.5|NM_012392.4" +HGNC:40154 PEF1-AS1 PEF1 and COL16A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p35.2 01p35.2 Antisense RNAs 1987 2019-07-25 2019-07-25 107985471 ENSG00000235790 OTTHUMG00000003881 XR_001737627 HGNC:40154 +HGNC:8826 PEG3 paternally expressed 3 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZKSCAN22|KIAA0287|ZNF904|ZSCAN24" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1997-05-29 2021-04-27 5178 ENSG00000198300 OTTHUMG00000171954 uc002qnv.3 AB006625 NM_001146184 "CCDS58684|CCDS12948|CCDS58685" Q9GZU2 9149948 MGI:104748 RGD:2323590 601483 HGNC:8826 "ENST00000326441.15|NM_006210.3" +HGNC:35127 PEG3-AS1 PEG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 "APEG3|NCRNA00155" "antisense PEG3 transcript|non-protein coding RNA 155" "PEG3AS|PEG3-AS" "PEG3 antisense RNA (non-protein coding)|PEG3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-09-22 2010-11-25 2012-08-15 2014-03-19 100169890 NR_023847 "18166281|15950772|24582979" PEG3-AS1 HGNC:35127 +HGNC:14005 PEG10 paternally expressed 10 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "KIAA1051|HB-1|MEF3L|RGAG3|Mar2|Mart2|SIRH1|RTL2" "Sushi-Ichi retrotransposon homolog 1|mammalian retrotransposon-derived 2|retrotransposon Gag like 2" Retrotransposon Gag like 1409 2000-11-28 2021-04-13 23089 ENSG00000242265 OTTHUMG00000155578 uc064flv.1 AB049834 NM_015068 "CCDS55126|CCDS75637|CCDS75636" Q86TG7 "11318613|15716091|16093683" MGI:2157785 RGD:1595574 LRG_1097|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1097.xml 609810 HGNC:14005 +HGNC:19969 PEG13 paternally expressed 13 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 Long non-coding RNAs with non-systematic symbols 1992 2003-07-16 2018-09-07 359809 ENSG00000282164 OTTHUMG00000191428 AK307073 NR_144431 "24402520|24667089|24980697" MGI:2663476 PEG13 HGNC:19969 +HGNC:50328 PELATON plaque enriched lncRNA in atherosclerotic and inflammatory bowel macrophage regulation non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 GCRL1 GC-related lncRNA1 "LINC01272|SMIM25" "long intergenic non-protein coding RNA 1272|small integral membrane protein 25" Long non-coding RNAs with non-systematic symbols 1992 2014-04-15 2019-12-18 2019-12-18 2020-06-18 100506115 ENSG00000224397 OTTHUMG00000032721 NR_170991 "29789536|31826651" HGNC:50328 +HGNC:8827 PELI1 pellino E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 2p14 02p14 "pellino (Drosophila) homolog 1|pellino homolog 1 (Drosophila)" Pellino E3 ubiquitin protein ligases 676 2000-09-01 2012-02-23 2016-10-05 57162 ENSG00000197329 OTTHUMG00000129511 uc002sct.5 NM_020651 CCDS1876 Q96FA3 "11306823|16951688" MGI:1914495 RGD:1311199 614797 HGNC:8827 "ENST00000358912.5|NM_020651.4" +HGNC:8828 PELI2 pellino E3 ubiquitin protein ligase family member 2 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "pellino (Drosophila) homolog 2|pellino homolog 2 (Drosophila)" Pellino E3 ubiquitin protein ligases 676 2000-09-01 2012-02-23 2016-10-05 57161 ENSG00000139946 OTTHUMG00000152336 uc001xch.4 AF302502 NM_021255 CCDS9726 Q9HAT8 "11306823|12860405" MGI:1891445 RGD:1565884 614798 HGNC:8828 "ENST00000267460.9|NM_021255.3" +HGNC:30010 PELI3 pellino E3 ubiquitin protein ligase family member 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 MGC35521 pellino homolog 3 (Drosophila) Pellino E3 ubiquitin protein ligases 676 2005-08-16 2012-02-23 2014-11-19 246330 ENSG00000174516 OTTHUMG00000167109 uc001oid.5 AL834395 NM_145065 "CCDS41675|CCDS73328|CCDS31615" Q8N2H9 "12874243|15917247" MGI:1924963 RGD:1305989 609827 HGNC:30010 "ENST00000320740.12|NM_145065.3" +HGNC:8829 PELO pelota mRNA surveillance and ribosome rescue factor protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "pelota (Drosophila) homolog|pelota homolog (Drosophila)" 2000-05-31 2017-06-06 2017-06-06 53918 ENSG00000152684 OTTHUMG00000096973 uc003jos.5 NM_015946 CCDS3956 Q9BRX2 11060452 MGI:2145154 RGD:1359591 605757 HGNC:8829 "ENST00000274311.3|NM_015946.5" +HGNC:30134 PELP1 proline, glutamate and leucine rich protein 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 MNAR proline, glutamic acid and leucine rich protein 1 "Large ribosomal subunit biogenesis complex|Armadillo like helical domain containing" "1301|1492" 2005-11-22 2008-02-21 2020-04-01 27043 ENSG00000141456 OTTHUMG00000177831 uc002fyi.6 NM_014389 CCDS62038 Q8IZL8 "11481323|12682072|26997260" MGI:1922523 RGD:1306320 609455 HGNC:30134 "ENST00000572293.7|NM_014389.3" +HGNC:55614 PELP1-DT PELP1 divergent transcript non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Divergent transcripts 1990 2021-06-14 2021-06-14 101559451 ENSG00000244184 NR_103482 +HGNC:8830 PEMT phosphatidylethanolamine N-methyltransferase protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "PEMPT|PEMT2" Methyltransferase families 1398 1999-12-15 2014-11-19 10400 ENSG00000133027 OTTHUMG00000059290 uc002grl.5 AF176806 NM_007169 "CCDS58520|CCDS11186|CCDS11187" Q9UBM1 "9989271|17881348" MGI:104535 RGD:3297 602391 470852 2.1.1.17 HGNC:8830 "ENST00000255389.10|NM_148172.3" +HGNC:8831 PENK proenkephalin protein-coding gene gene with protein product Approved 8q12.1 08q12.1 preproenkephalin Neuropeptides 1902 2001-06-22 2016-11-01 5179 ENSG00000181195 OTTHUMG00000164409 uc003xta.4 NM_001135690 CCDS6168 P01210 6281660 MGI:104629 RGD:68946 131330 ligandId:4058 HGNC:8831 "ENST00000451791.7|NM_001135690.3" +HGNC:55519 PENK-AS1 PENK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 Antisense RNAs 1987 2021-03-18 2021-03-18 101929415 ENSG00000254254 NR_125813 +HGNC:8838 PEPB peptidase B other unknown Approved 12q21 12q21 1986-01-01 2019-06-26 5182 MGI:97540 169900 3.4.11.4 +HGNC:8839 PEPC peptidase C other unknown Approved 1q25 01q25 1986-01-01 2019-06-26 5183 "5073691|2673983" 170000 "3.4.13.18|3.4.-.-" +HGNC:8840 PEPD peptidase D protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "prolidase|Xaa-Pro dipeptidase|imidodipeptidase" M24 metallopeptidase family 1442 1986-01-01 2020-04-01 5184 ENSG00000124299 OTTHUMG00000180470 uc002nur.5 BC015027 NM_000285 "CCDS42544|CCDS54245|CCDS54244" P12955 "2925654|1972707" MGI:97542 RGD:1594571 613230 124187 M24.007 objectId:2389 3.4.13.9 HGNC:8840 "ENST00000244137.12|NM_000285.4" HGNC:8840 +HGNC:8841 PEPE peptidase E other unknown Approved 17 17 1986-01-01 2019-06-26 5185 170200 3.4.11.2 +HGNC:8845 PER1 period circadian regulator 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 RIGUI PER "period (Drosophila) homolog 1|period homolog 1 (Drosophila)|period circadian clock 1" "MicroRNA protein coding host genes|PAS domain containing" "1691|2127" 1997-10-21 2017-10-02 2019-04-16 5187 ENSG00000179094 OTTHUMG00000178317 uc002gkd.4 AB002107 NM_002616 CCDS11131 O15534 9323128 MGI:1098283 RGD:727863 PER1 602260 HGNC:8845 "ENST00000317276.9|NM_002616.3" +HGNC:8846 PER2 period circadian regulator 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 KIAA0347 "period (Drosophila) homolog 2|period homolog 2 (Drosophila)|period circadian clock 2" PAS domain containing 2127 1999-06-11 2017-10-02 2017-10-02 8864 ENSG00000132326 OTTHUMG00000152884 uc002vyc.4 AB002345 NM_022817 CCDS2528 O15055 "9427249|17218255" MGI:1195265 RGD:61945 603426 167886 HGNC:8846 "ENST00000254657.8|NM_022817.3" HGNC:8846 +HGNC:8847 PER3 period circadian regulator 3 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "period (Drosophila) homolog 3|period homolog 3 (Drosophila)|period circadian clock 3" PAS domain containing 2127 1999-06-11 2017-10-02 2017-10-02 8863 ENSG00000049246 OTTHUMG00000001216 uc057bxs.1 BC026102 NM_016831 "CCDS76097|CCDS89|CCDS72695" P56645 9427249 MGI:1277134 RGD:621581 603427 456799 HGNC:8847 "ENST00000377532.8|NM_001377275.1" HGNC:8847 +HGNC:54525 PER3P1 PER3 pseudogene 1 pseudogene pseudogene Approved 7p21.3 07p21.3 PER4 2019-10-11 2019-10-11 168741 ENSG00000271077 NR_002790 11483238 HGNC:54525 +HGNC:52293 PERCC1 proline and glutamate rich with coiled coil 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 2019-07-04 2019-07-04 105371045 ENSG00000284395 OTTHUMG00000192124 NM_001365310 A0A1W2PR82 31217582 MGI:5621540 RGD:9344254 618656 HGNC:52293 "ENST00000640283.2|NM_001365310.2" +HGNC:28208 PERM1 PPARGC1 and ESRR induced regulator, muscle 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "MGC13275|RP11-54O7.8" PGC-1- and ERR-induced regulator in muscle 1 C1orf170 chromosome 1 open reading frame 170 2005-07-20 2014-01-15 2014-01-15 2021-10-06 84808 ENSG00000187642 OTTHUMG00000040757 AK123855 NM_001291366 CCDS76083 Q5SV97 23836911 MGI:1921433 RGD:1304931 615921 HGNC:28208 +HGNC:17637 PERP p53 apoptosis effector related to PMP22 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "PIGPC1|dJ496H19.1|KCP1|THW|KRTCAP1" keratinocyte associated protein 1 PERP, TP53 apoptosis effector 2003-11-19 2019-01-31 2019-01-31 64065 ENSG00000112378 OTTHUMG00000015668 uc003qht.3 AF317550 NM_022121 CCDS5188 Q96FX8 11062687 MGI:1929938 RGD:1310294 609301 HGNC:17637 "ENST00000421351.4|NM_022121.5" HGNC:17637 +HGNC:8848 PES1 pescadillo ribosomal biogenesis factor 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "PES|NOP7" "pescadillo (zebrafish) homolog 1, containing BRCT domain|pescadillo homolog 1, containing BRCT domain (zebrafish)" PeBoW complex 1732 1999-10-19 2012-02-23 2017-05-19 23481 ENSG00000100029 OTTHUMG00000151077 uc003aij.2 U78310 NM_014303 "CCDS13880|CCDS58802|CCDS74842" O00541 "8985183|10591208|17353269" MGI:1890613 RGD:1559814 605819 470854 HGNC:8848 "ENST00000354694.12|NM_014303.4" +HGNC:44058 PES1P1 pescadillo ribosomal biogenesis factor 1 pseudogene 1 pseudogene pseudogene Approved 4q28.3 04q28.3 2012-05-30 2014-11-19 345016 ENSG00000248191 OTTHUMG00000161470 NG_022080 PGOHUM00000246083 HGNC:44058 +HGNC:44059 PES1P2 pescadillo ribosomal biogenesis factor 1 pseudogene 2 pseudogene pseudogene Approved 9p23 09p23 RP11-284P20.2 2012-05-30 2020-02-28 347193 ENSG00000229268 OTTHUMG00000019565 NG_021640 PGOHUM00000236388 HGNC:44059 +HGNC:40038 PET100 PET100 cytochrome c oxidase chaperone protein-coding gene gene with protein product Approved 19p13.2 19p13.2 C19orf79 "chromosome 19 open reading frame 79|PET100 homolog (S. cerevisiae)|PET100 homolog" Mitochondrial respiratory chain complex assembly factors 645 2011-07-06 2012-06-25 2019-03-12 2021-05-26 100131801 ENSG00000229833 uc010dvi.3 NM_001171155 CCDS54208 P0DJ07 "22356826|24462369|28199844" MGI:3615306 RGD:1585222 614770 396650 HGNC:40038 "ENST00000594797.6|NM_001171155.2" HGNC:40038 +HGNC:40045 PET117 PET117 cytochrome c oxidase chaperone protein-coding gene gene with protein product Approved 20p11.23 20p11.23 CSRP2BP "PET117 homolog (S. cerevisiae)|PET117 homolog" Mitochondrial respiratory chain complex assembly factors 645 2012-02-23 2019-03-12 2019-03-12 100303755 ENSG00000232838 OTTHUMG00000186019 uc021wba.2 NM_001164811 CCDS54450 Q6UWS5 28199844 MGI:5295678 614771 HGNC:40045 "ENST00000432901.4|NM_001164811.2" HGNC:40045 +HGNC:8850 PEX1 peroxisomal biogenesis factor 1 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "ZWS1|ZWS" "peroxisome biogenesis factor 1|Zellweger syndrome 1|Zellweger syndrome" "AAA ATPases|Peroxins" "413|957" 1998-01-08 2008-08-26 2021-05-26 5189 ENSG00000127980 OTTHUMG00000023926 uc003uly.4 AF026086 NM_000466 "CCDS64710|CCDS5627" O43933 9398848 MGI:1918632 RGD:1559939 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX1 602136 124189 HGNC:8850 "ENST00000248633.9|NM_000466.3" HGNC:8850 +HGNC:9717 PEX2 peroxisomal biogenesis factor 2 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "PMP35|PAF-1|RNF72|ZWS3" "Zellweger syndrome|peroxin 2" PXMP3 "peroxisomal membrane protein 3 (35kD, Zellweger syndrome)|peroxisomal membrane protein 3, 35kDa" "Ring finger proteins|Peroxins" "58|957" 1992-03-03 2010-01-25 2010-01-25 2021-05-26 5828 ENSG00000164751 OTTHUMG00000164530 uc003yax.4 M86852 NM_000318 CCDS6221 P28328 "1546315|8858157" MGI:107486 RGD:61814 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX2 170993 118174 HGNC:9717 "ENST00000357039.9|NM_000318.3" HGNC:9717 +HGNC:8858 PEX3 peroxisomal biogenesis factor 3 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 Peroxins 957 1998-10-21 2021-05-26 8504 ENSG00000034693 OTTHUMG00000015730 uc003qjl.4 AJ001625 NM_003630 CCDS5199 P56589 9657383 MGI:1929646 RGD:621636 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX3 603164 124209 HGNC:8858 "ENST00000367591.5|NM_003630.3" HGNC:8858 +HGNC:9719 PEX5 peroxisomal biogenesis factor 5 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 PTS1R "peroxisomal targeting signal 1 receptor|peroxisomal import receptor 5" PXR1 peroxisome receptor 1 "Tetratricopeptide repeat domain containing|Peroxins" "769|957" 1994-12-13 2004-03-19 2004-03-17 2021-05-26 5830 ENSG00000139197 OTTHUMG00000168175 uc009zfu.3 U19721 NM_000319 "CCDS44824|CCDS44823|CCDS44822|CCDS8576" P50542 MGI:1098808 RGD:1307612 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX5 600414 124211 HGNC:9719 "ENST00000675855.1|NM_001351132.2" HGNC:9719 +HGNC:30024 PEX5L peroxisomal biogenesis factor 5 like protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "PEX5R|PXR2|TRIP8b" HCN channel auxiliary subunit Tetratricopeptide repeat domain containing 769 2004-07-26 2016-06-29 2016-10-05 51555 ENSG00000114757 OTTHUMG00000157363 uc003fki.3 AJ245503 NM_016559 "CCDS58861|CCDS58863|CCDS58864|CCDS3236|CCDS58867|CCDS58866|CCDS58865|CCDS58862" Q8IYB4 "11463335|19555650" MGI:1916672 RGD:708407 611058 470860 HGNC:30024 "ENST00000467460.6|NM_016559.3" +HGNC:41251 PEX5L-AS1 PEX5L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 PEX5L antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2015-08-07 100874040 ENSG00000243799 OTTHUMG00000157362 uc062qgp.1 PEX5L-AS1 +HGNC:41252 PEX5L-AS2 PEX5L antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 PEX5L antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2015-08-07 101928790 ENSG00000244302 OTTHUMG00000157364 uc032slf.2 NR_110059 PEX5L-AS2 HGNC:41252 +HGNC:8859 PEX6 peroxisomal biogenesis factor 6 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "PXAAA1|PAF-2" "AAA ATPases|Peroxins" "413|957" 1997-05-22 2021-05-26 5190 ENSG00000124587 OTTHUMG00000014713 uc003otf.4 U56602 NM_000287 CCDS4877 Q13608 8670792 MGI:2385054 RGD:621637 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX6 601498 124215 HGNC:8859 "ENST00000304611.13|NM_000287.4" HGNC:8859 +HGNC:8860 PEX7 peroxisomal biogenesis factor 7 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "PTS2R|RD" Refsum disease "WD repeat domain containing|Peroxins" "362|957" 1997-05-22 2021-05-26 5191 ENSG00000112357 OTTHUMG00000015650 uc003qhd.4 AF180814 NM_000288 CCDS5180 O00628 "9090381|10673331" MGI:1321392 RGD:1308483 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX7 601757 124219 HGNC:8860 "ENST00000318471.5|NM_000288.4" HGNC:8860 +HGNC:8851 PEX10 peroxisomal biogenesis factor 10 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 RNF69 peroxisome biogenesis factor 10 "Ring finger proteins|Peroxins" "58|957" 1998-08-05 2008-08-26 2021-05-26 5192 ENSG00000157911 OTTHUMG00000001637 uc001ajh.4 AF060502 NM_153818 "CCDS41|CCDS44045" O60683 9683594 MGI:2684988 RGD:1591776 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX10 602859 124191 HGNC:8851 "ENST00000447513.7|NM_002617.4" HGNC:8851 +HGNC:8852 PEX11A peroxisomal biogenesis factor 11 alpha protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "PEX11alpha|PEX11α|PMP28|MGC119947|MGC138534" "Peroxisomal membrane protein 11A|Peroxin-11A|peroxisomal integral membrane protein 28-kDa" peroxisomal biogenesis factor 11A Peroxins 957 1998-11-11 2008-08-26 2022-02-10 8800 ENSG00000166821 OTTHUMG00000149809 uc002boi.5 AF093668 NM_003847 "CCDS10354|CCDS61751" O75192 9792670 MGI:1338788 RGD:619842 603866 470856 HGNC:8852 "ENST00000300056.8|NM_003847.3" HGNC:8852 +HGNC:8853 PEX11B peroxisomal biogenesis factor 11 beta protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "PEX11beta|PEX11β" Peroxisomal membrane protein 11B peroxisomal biogenesis factor 11B Peroxins 957 1998-11-11 2008-08-26 2021-11-23 8799 ENSG00000131779 OTTHUMG00000013756 uc001eny.3 AF093670 NM_003846 "CCDS72871|CCDS72870" O96011 9792670 MGI:1338882 RGD:1310353 603867 317370 HGNC:8853 "ENST00000369306.8|NM_003846.3" HGNC:8853 +HGNC:20208 PEX11G peroxisomal biogenesis factor 11 gamma protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "PEX11gamma|PEX11γ" Peroxisomal membrane protein 11G Peroxins 957 2003-07-14 2021-11-23 92960 ENSG00000104883 OTTHUMG00000182044 uc002mgk.3 BC008780 NM_080662 "CCDS77227|CCDS12178" Q96HA9 12417726 MGI:1920905 RGD:1307070 607583 470858 HGNC:20208 "ENST00000221480.6|NM_080662.4" HGNC:20208 +HGNC:8854 PEX12 peroxisomal biogenesis factor 12 protein-coding gene gene with protein product Approved 17q12 17q12 Peroxins 957 1997-05-22 2021-05-26 5193 ENSG00000108733 OTTHUMG00000132951 uc060ech.1 U91521 NM_000286 CCDS11296 O00623 9090384 MGI:2144177 RGD:620757 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX12 601758 124194 HGNC:8854 "ENST00000225873.9|NM_000286.3" HGNC:8854 +HGNC:39678 PEX12P1 peroxisomal biogenesis factor 12 pseudogene 1 pseudogene pseudogene Approved 13q31.3 13q31.3 2011-03-22 2011-03-22 121727 ENSG00000215418 OTTHUMG00000017181 NG_011336 PGOHUM00000248660 HGNC:39678 +HGNC:8855 PEX13 peroxisomal biogenesis factor 13 protein-coding gene gene with protein product Approved 2p15 02p15 peroxisome biogenesis factor 13 Peroxins 957 1997-06-24 2008-08-26 2021-05-26 5194 ENSG00000162928 OTTHUMG00000129422 uc002sau.5 U71374 NM_002618 CCDS1866 Q92968 9878256 MGI:1919379 RGD:1310682 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX13 601789 124196 HGNC:8855 "ENST00000295030.6|NM_002618.4" HGNC:8855 +HGNC:8856 PEX14 peroxisomal biogenesis factor 14 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 Peroxins 957 1998-08-21 2021-05-26 5195 ENSG00000142655 OTTHUMG00000001908 uc001arn.5 AF045186 NM_004565 CCDS30582 O75381 9653144 MGI:1927868 RGD:68336 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX14 601791 124198 HGNC:8856 "ENST00000356607.9|NM_004565.3" HGNC:8856 +HGNC:8857 PEX16 peroxisomal biogenesis factor 16 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 Peroxins 957 1999-04-07 2021-05-26 9409 ENSG00000121680 OTTHUMG00000167005 uc001nbu.4 AF118240 NM_057174 "CCDS7917|CCDS31472" Q9Y5Y5 9922452 MGI:1338829 RGD:1311372 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX16 603360 124200 HGNC:8857 "ENST00000378750.10|NM_004813.4" HGNC:8857 +HGNC:9713 PEX19 peroxisomal biogenesis factor 19 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "HK33|D1S2223E|PMP1|PMPI|PXMP1" housekeeping gene, 33kD PXF peroxisomal farnesylated protein Peroxins 957 1997-06-12 2004-03-19 2004-03-17 2021-05-26 5824 ENSG00000162735 OTTHUMG00000033112 uc001fvs.3 Y09048 NM_002857 CCDS1201 P40855 "9339377|10051604" MGI:1334458 RGD:1306913 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX19 600279 124202 HGNC:9713 "ENST00000368072.10|NM_002857.4" HGNC:9713 +HGNC:22965 PEX26 peroxisomal biogenesis factor 26 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 FLJ20695 peroxisome biogenesis factor 26 Peroxins 957 2003-08-05 2008-08-26 2021-05-26 55670 ENSG00000215193 OTTHUMG00000149970 uc002znp.5 AB089678 NM_017929 "CCDS13750|CCDS56221" Q7Z412 "12717447|12851857" MGI:1921293 RGD:1584998 dbPEX, PEX Gene Database|http://www.dbpex.org/home.php?select_db=PEX26 608666 124206 HGNC:22965 "ENST00000399744.8|NM_001127649.3" HGNC:22965 +HGNC:8861 PF4 platelet factor 4 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB4|CXCL4" chemokine (C-X-C motif) ligand 4 2001-06-22 2008-08-29 2021-04-13 5196 ENSG00000163737 OTTHUMG00000130009 uc003hhi.4 M25897 NM_001363352 CCDS3562 P02776 3622011 MGI:1888711 RGD:3305 LRG_636|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_636.xml 173460 470862 ligandId:3685 HGNC:8861 "ENST00000296029.4|NM_002619.4" +HGNC:8862 PF4V1 platelet factor 4 variant 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB4V1|CXCL4V1|CXCL4L1" 1990-09-10 2016-10-05 5197 ENSG00000109272 OTTHUMG00000130177 uc003hhg.2 M26167 NM_002620 CCDS3561 P10720 2725510 MGI:1888711 173461 HGNC:8862 "ENST00000226524.4|NM_002620.4" +HGNC:8863 PFAS phosphoribosylformylglycinamidine synthase protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "PURL|FGARAT|KIAA0361|GATD8" FGAR amidotransferase "Glutamine amidotransferase class 1 domain containing|Purinosome" "1408|1569" 1998-01-16 2008-07-31 2017-03-16 5198 ENSG00000178921 OTTHUMG00000108188 uc002gkr.4 AB002359 NM_012393 CCDS11136 O15067 8110788 MGI:2684864 RGD:1304926 602133 C56.972 6.3.5.3 HGNC:8863 "ENST00000314666.11|NM_012393.3" +HGNC:8866 PFDN1 prefoldin subunit 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 PFD1 prefoldin 1 Prefoldin subunits 956 1998-08-06 2006-02-24 2016-10-05 5201 ENSG00000113068 OTTHUMG00000129249 uc003lff.2 Y17392 NM_002622 CCDS4222 O60925 9630229 MGI:1914449 RGD:1305603 604897 HGNC:8866 "ENST00000261813.9|NM_002622.5" +HGNC:8867 PFDN2 prefoldin subunit 2 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 prefoldin 2 Prefoldin subunits 956 1998-08-06 2006-02-24 2014-11-19 5202 ENSG00000143256 OTTHUMG00000031481 uc001fxu.4 AF165883 NM_012394 CCDS1217 Q9UHV9 10051400 MGI:1276111 RGD:1591406 613466 HGNC:8867 "ENST00000368010.4|NM_012394.4" +HGNC:8868 PFDN4 prefoldin subunit 4 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "PFD4|C-1|C1" prefoldin 4 Prefoldin subunits 956 1998-08-06 2006-02-24 2014-11-19 5203 ENSG00000101132 OTTHUMG00000032775 uc002xwx.4 U41816 NM_002623 CCDS13445 Q9NQP4 "9630229|8744932" MGI:1923512 RGD:2324021 604898 HGNC:8868 "ENST00000371419.7|NM_002623.4" +HGNC:8869 PFDN5 prefoldin subunit 5 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "PFD5|MM-1" prefoldin 5 Prefoldin subunits 956 1998-08-06 2006-02-24 2016-11-09 5204 ENSG00000123349 OTTHUMG00000169675 uc001scl.5 D89667 NM_002624 "CCDS8853|CCDS8854" Q99471 "9630229|9792694" MGI:1928753 RGD:1311436 604899 HGNC:8869 "ENST00000334478.9|NM_002624.4" +HGNC:4926 PFDN6 prefoldin subunit 6 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "KE-2|H2-KE2|PFD6" HKE2 "HLA class II region expressed gene KE2|prefoldin 6" "Prefoldin subunits|MicroRNA protein coding host genes" "956|1691" 2000-06-26 2006-02-24 2006-02-24 2016-10-05 10471 ENSG00000204220 OTTHUMG00000031247 uc010jup.3 BC039033 NM_014260 CCDS4773 O15212 "9545376|9630229" MGI:95908 RGD:1303006 605660 HGNC:4926 "ENST00000374606.10|NM_001185181.3" +HGNC:8872 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 PFRX 6-phosphofructo-2-kinases/fructose-2,6-biphosphatases 1077 1990-09-10 2020-04-02 5207 ENSG00000158571 OTTHUMG00000021643 uc004dty.3 NM_001271804 "CCDS65273|CCDS14364" P16118 9119406 MGI:107816 RGD:3307 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PFKFB1 311790 "2.7.1.105|3.1.3.46" HGNC:8872 "ENST00000375006.8|NM_002625.4" +HGNC:8873 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 6-phosphofructo-2-kinases/fructose-2,6-biphosphatases 1077 1991-05-09 2016-10-05 5208 ENSG00000123836 OTTHUMG00000036033 uc001hfg.4 NM_001018053 "CCDS31003|CCDS31004" O60825 MGI:107815 RGD:3309 171835 "2.7.1.105|3.1.3.46" HGNC:8873 "ENST00000367080.8|NM_006212.2" +HGNC:8874 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "6-phosphofructo-2-kinases/fructose-2,6-biphosphatases|MicroRNA protein coding host genes" "1077|1691" 1997-01-29 2015-09-04 5209 ENSG00000170525 OTTHUMG00000017621 uc057rmz.1 NM_004566 "CCDS60479|CCDS81439|CCDS44353|CCDS7078|CCDS86068" Q16875 "9146922|10072580|22275052" MGI:2181202 RGD:619776 605319 objectId:2937 "2.7.1.105|3.1.3.46" HGNC:8874 "ENST00000379775.9|NM_004566.4" +HGNC:8875 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "6-phosphofructo-2-kinases/fructose-2,6-biphosphatases|MicroRNA protein coding host genes" "1077|1691" 1998-06-04 2016-10-05 5210 ENSG00000114268 OTTHUMG00000133528 uc003ctv.4 BC010269 NM_004567 "CCDS82769|CCDS82770|CCDS2771" Q16877 "8830046|10095107|25115398" MGI:2687284 RGD:3310 605320 "2.7.1.105|3.1.3.46" HGNC:8875 "ENST00000232375.8|NM_004567.4" +HGNC:8876 PFKL phosphofructokinase, liver type protein-coding gene gene with protein product Approved 21q22.3 21q22.3 1986-01-01 2016-02-10 2016-02-10 5211 ENSG00000141959 OTTHUMG00000086910 uc002zel.4 NM_001002021 CCDS33582 P17858 MGI:97547 RGD:3311 171860 2.7.1.11 HGNC:8876 "ENST00000349048.9|NM_002626.6" +HGNC:8877 PFKM phosphofructokinase, muscle protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "PFK-1|PPP1R122" protein phosphatase 1, regulatory subunit 122 PFKX phosphofructokinase, polypeptide X "Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "694|1691" 1986-01-01 2021-04-13 5213 ENSG00000152556 OTTHUMG00000169898 uc001rrc.4 M26066 NM_000289 "CCDS86295|CCDS86294|CCDS53786|CCDS8760" P08237 MGI:97548 RGD:68419 LRG_1177|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1177.xml 610681 124223 2.7.1.11 HGNC:8877 "ENST00000359794.11|NM_000289.6" HGNC:8877 +HGNC:8878 PFKP phosphofructokinase, platelet protein-coding gene gene with protein product Approved 10p15.2 10p15.2 "PFK-C|PFKF" Phosphofructokinase, platelet type 1986-01-01 2016-10-05 5214 ENSG00000067057 OTTHUMG00000017556 uc001igp.4 AK092597 NM_002627 "CCDS55698|CCDS7059" Q01813 MGI:1891833 RGD:61893 171840 2.7.1.11 HGNC:8878 "ENST00000381125.9|NM_002627.5" +HGNC:55177 PFKP-DT PFKP divergent transcript non-coding RNA RNA, long non-coding Approved 10p15.2 10p15.2 Divergent transcripts 1990 2020-08-06 2020-08-06 101927824 ENSG00000273001 NR_160681 +HGNC:8881 PFN1 profilin 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 Profilins 1827 1988-08-15 2021-05-26 5216 ENSG00000108518 OTTHUMG00000099396 uc002gaa.5 BC057828 NM_005022 CCDS11061 P07737 "3356709|1968707" MGI:97549 RGD:621825 176610 310425 HGNC:8881 "ENST00000225655.6|NM_005022.4" HGNC:8881 +HGNC:42989 PFN1P1 profilin 1 pseudogene 1 pseudogene pseudogene Approved 1q24.3 01q24.3 2011-09-16 2015-03-05 730138 ENSG00000233328 OTTHUMG00000034791 NG_005764 PGOHUM00000295953 HGNC:42989 +HGNC:24298 PFN1P2 profilin 1 pseudogene 2 pseudogene pseudogene Approved 1p11.2 01p11.2 COAS3 C1orf152 chromosome 1 open reading frame 152 2005-07-14 2011-09-16 2011-09-16 2020-04-20 767846 ENSG00000270392 OTTHUMG00000185012 AF345651 NR_003242 11948409 608609 PGOHUM00000295821 HGNC:24298 +HGNC:42987 PFN1P3 profilin 1 pseudogene 3 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-09-16 2016-10-05 200025 ENSG00000234367 OTTHUMG00000043046 NG_006513 PGOHUM00000244975 HGNC:42987 +HGNC:42992 PFN1P4 profilin 1 pseudogene 4 pseudogene pseudogene Approved 1q21.2 01q21.2 PFN1P5 profilin 1 pseudogene 5 2012-02-29 2015-03-05 767851 ENSG00000225080 OTTHUMG00000043429 NG_005766 PGOHUM00000244970 HGNC:42992 +HGNC:42988 PFN1P6 profilin 1 pseudogene 6 pseudogene pseudogene Approved 1q21.1 01q21.1 PFN1P7 profilin 1 pseudogene 7 2011-09-16 2015-02-11 645126 ENSG00000227212 OTTHUMG00000013834 NG_005762 HGNC:42988 +HGNC:42986 PFN1P8 profilin 1 pseudogene 8 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-09-16 2011-09-16 100873744 ENSG00000244371 OTTHUMG00000158076 NG_032539 PGOHUM00000244208 HGNC:42986 +HGNC:42991 PFN1P9 profilin 1 pseudogene 9 pseudogene pseudogene Approved 1p12 01p12 2012-02-24 2015-03-05 767850 ENSG00000227205 OTTHUMG00000012179 NG_005765 PGOHUM00000296483 HGNC:42991 +HGNC:42985 PFN1P10 profilin 1 pseudogene 10 pseudogene pseudogene Approved 1p36.12 01p36.12 2011-09-16 2011-09-16 2014-02-12 767853 ENSG00000176378 OTTHUMG00000002948 NG_005768 PGOHUM00000243929 HGNC:42985 +HGNC:42994 PFN1P11 profilin 1 pseudogene 11 pseudogene pseudogene Approved 10q24.32 10q24.32 2011-09-16 2011-09-16 100873784 ENSG00000213061 OTTHUMG00000018971 NG_032540 PGOHUM00000238616 HGNC:42994 +HGNC:42995 PFN1P12 profilin 1 pseudogene 12 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-09-16 2016-10-05 647569 ENSG00000226028 OTTHUMG00000041569 NG_005763 PGOHUM00000296513 HGNC:42995 +HGNC:8882 PFN2 profilin 2 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 Profilins 1827 1988-08-15 2015-09-04 5217 ENSG00000070087 OTTHUMG00000159683 uc003ext.3 L10678 NM_002628 "CCDS46934|CCDS3148" P35080 "8975700|8365484" MGI:97550 RGD:621826 176590 HGNC:8882 "ENST00000239940.12|NM_053024.4" +HGNC:55631 PFN2-AS1 PFN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 Antisense RNAs 1987 2021-06-23 2021-06-23 121832804 ENSG00000242791 +HGNC:18627 PFN3 profilin 3 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 Profilins 1827 2005-06-30 2016-10-05 345456 ENSG00000196570 OTTHUMG00000163408 uc003mgl.2 AC090063 NM_001029886 CCDS34301 P60673 11867228 MGI:2178800 RGD:1587838 612812 HGNC:18627 "ENST00000358571.3|NM_001029886.3" +HGNC:31103 PFN4 profilin family member 4 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 profilin family, member 4 Profilins 1827 2004-02-13 2015-11-18 2016-10-05 375189 ENSG00000176732 OTTHUMG00000090816 uc002rfa.2 BC029523 NM_199346 CCDS1709 Q8NHR9 MGI:1920121 RGD:1359707 HGNC:31103 "ENST00000313213.5|NM_199346.3" +HGNC:53808 PFN5P profilin 5, pseudogene pseudogene pseudogene Approved Xq11.2 Xq11.2 Profilins 1827 2018-01-22 2018-01-22 112422909 ENSG00000283349 NR_170298 MGI:5804915 +HGNC:8885 PGA3 pepsinogen A3 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 pepsin A pepsinogen 3, group I (pepsinogen A) Pepsinogens 1927 1986-01-01 2019-07-04 2019-07-04 643834 ENSG00000229859 OTTHUMG00000168071 uc001nqx.4 AL832946 NM_001079807 CCDS31574 P0DJD8 "6300126|3467902|3014868" MGI:1915935 169710 A01.001 3.4.23.1 HGNC:8885 "ENST00000325558.11|NM_001079807.4" +HGNC:8886 PGA4 pepsinogen A4 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 pepsin A pepsinogen 4, group I (pepsinogen A) Pepsinogens 1927 2001-06-22 2019-07-04 2019-07-04 643847 ENSG00000229183 OTTHUMG00000168073 uc001nqy.4 AP000437 NM_001079808 CCDS31575 P0DJD7 "6300126|3467902|3014868" MGI:1915935 RGD:11482410 169720 A01.070 3.4.23.1 HGNC:8886 "ENST00000378149.9|NM_001079808.6" +HGNC:8887 PGA5 pepsinogen A5 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 pepsin A pepsinogen 5, group I (pepsinogen A) Pepsinogens 1927 2001-06-22 2019-07-04 2019-07-04 5222 ENSG00000256713 OTTHUMG00000168075 uc001nqz.4 BC029055 NM_014224 CCDS8001 P0DJD9 "3467902|3014868" MGI:1915935 RGD:621573 169730 A01.071 objectId:2390 3.4.23.1 HGNC:8887 "ENST00000312403.10|NM_014224.5" +HGNC:8888 PGAM1 phosphoglycerate mutase 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 PGAM-B Phosphoglycerate mutase A, nonmuscle form PGAMA phosphoglycerate mutase 1 (brain) "Phosphoglycerate mutases|Bisphosphoglycerate phosphatases" "1078|1082" 2001-06-22 2015-11-26 2016-10-05 5223 ENSG00000171314 OTTHUMG00000018846 uc001knh.4 BC010038 NM_002629 CCDS7458 P18669 2846553 MGI:97552 RGD:3312 172250 470864 "5.4.2.1|3.1.3.13" HGNC:8888 "ENST00000334828.6|NM_002629.4" +HGNC:42448 PGAM1P1 phosphoglycerate mutase 1 pseudogene 1 pseudogene pseudogene Approved 5q11.2 05q11.2 2011-07-28 2014-11-19 100130514 ENSG00000248271 OTTHUMG00000162197 NG_021883 PGOHUM00000235598 HGNC:42448 +HGNC:42449 PGAM1P2 phosphoglycerate mutase 1 pseudogene 2 pseudogene pseudogene Approved 9p13.3 09p13.3 2011-07-28 2014-11-19 392310 ENSG00000225639 OTTHUMG00000019889 NG_021612 PGOHUM00000236026 HGNC:42449 +HGNC:42450 PGAM1P3 phosphoglycerate mutase 1 pseudogene 3 pseudogene pseudogene Approved 3p22.1 03p22.1 2011-07-28 2014-11-19 100873887 ENSG00000230274 OTTHUMG00000156073 NG_032517 PGOHUM00000237594 HGNC:42450 +HGNC:42451 PGAM1P4 phosphoglycerate mutase 1 pseudogene 4 pseudogene pseudogene Approved 3p25.3 03p25.3 2011-07-28 2014-11-18 391508 ENSG00000214041 OTTHUMG00000155029 NG_022236 PGOHUM00000237928 HGNC:42451 +HGNC:42452 PGAM1P5 phosphoglycerate mutase 1 pseudogene 5 pseudogene pseudogene Approved 12q22 12q22 2011-07-28 2014-11-19 100132594 ENSG00000257150 OTTHUMG00000170282 NR_077225 PGOHUM00000239900 HGNC:42452 +HGNC:42453 PGAM1P6 phosphoglycerate mutase 1 pseudogene 6 pseudogene pseudogene Approved 2p23.3 02p23.3 2011-07-28 2014-11-19 100420567 ENSG00000224464 OTTHUMG00000151904 NG_029017 PGOHUM00000239990 HGNC:42453 +HGNC:42454 PGAM1P7 phosphoglycerate mutase 1 pseudogene 7 pseudogene pseudogene Approved Xp11.3 Xp11.3 2011-07-28 2016-10-05 100420650 ENSG00000213997 OTTHUMG00000039871 NG_012622 PGOHUM00000241266 HGNC:42454 +HGNC:42455 PGAM1P8 phosphoglycerate mutase 1 pseudogene 8 pseudogene pseudogene Approved 11q13.1 11q13.1 2011-07-28 2017-01-12 440043 ENSG00000255200 OTTHUMG00000165612 NG_023196 PGOHUM00000242329 HGNC:42455 +HGNC:42456 PGAM1P9 phosphoglycerate mutase 1 pseudogene 9 pseudogene pseudogene Approved 11q14.3 11q14.3 2011-07-28 2014-11-19 100420681 ENSG00000249255 OTTHUMG00000160131 NG_052813 PGOHUM00000242425 HGNC:42456 +HGNC:42457 PGAM1P10 phosphoglycerate mutase 1 pseudogene 10 pseudogene pseudogene Approved 6q13 06q13 2011-07-28 2014-11-19 100420633 ENSG00000220515 OTTHUMG00000015017 NG_047170 PGOHUM00000243672 HGNC:42457 +HGNC:42464 PGAM1P11 phosphoglycerate mutase 1 pseudogene 11 pseudogene pseudogene Approved 1p36.22 01p36.22 2011-07-28 2014-11-19 100420660 ENSG00000233623 OTTHUMG00000001802 NG_027065 PGOHUM00000244597 HGNC:42464 +HGNC:42459 PGAM1P12 phosphoglycerate mutase 1 pseudogene 12 pseudogene pseudogene Approved 15q26.2 15q26.2 2011-07-28 2014-11-19 390643 ENSG00000250825 OTTHUMG00000160134 NG_022119 PGOHUM00000246936 HGNC:42459 +HGNC:42461 PGAM1P13 phosphoglycerate mutase 1 pseudogene 13 pseudogene pseudogene Approved 8q23.1 08q23.1 2011-07-28 2014-11-19 100129815 ENSG00000248838 OTTHUMG00000160125 NG_022429 PGOHUM00000249772 HGNC:42461 +HGNC:8889 PGAM2 phosphoglycerate mutase 2 protein-coding gene gene with protein product Approved 7p13 07p13 PGAM-M phosphoglycerate mutase 2 (muscle) "Phosphoglycerate mutases|Bisphosphoglycerate phosphatases" "1078|1082" 1989-06-30 2015-11-26 2021-05-26 5224 ENSG00000164708 OTTHUMG00000155355 uc003tjs.3 NM_000290 CCDS34624 P15259 MGI:1933118 RGD:3313 612931 167879 "5.4.2.1|3.1.3.13|5.4.2.4" HGNC:8889 "ENST00000297283.4|NM_000290.4" HGNC:8889 +HGNC:16557 PGAM3P phosphoglycerate mutase 3, pseudogene pseudogene pseudogene Approved 20p12.2 20p12.2 dJ1128N12.1 2001-09-17 2011-07-28 170535 ENSG00000237256 OTTHUMG00000031885 AL109837 NG_001047 PGOHUM00000247592 HGNC:16557 +HGNC:21731 PGAM4 phosphoglycerate mutase family member 4 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "dJ1000K24.1|PGAM3|PGAM-B|PGAM1" phosphoglycerate mutase family 4 "Phosphoglycerate mutases|Bisphosphoglycerate phosphatases" "1078|1082" 2005-04-29 2006-02-09 2020-04-02 441531 ENSG00000226784 OTTHUMG00000057865 uc004ecy.2 AF465731 NM_001029891 CCDS35338 Q8N0Y7 "11961099|9370262" MGI:97552 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PGAM4 300567 470866 HGNC:21731 "ENST00000458128.3|NM_001029891.3" +HGNC:42465 PGAM4P1 phosphoglycerate mutase family member 4 pseudogene 1 pseudogene pseudogene Approved Xp11.22 Xp11.22 2011-07-28 2014-11-19 100421178 ENSG00000215197 OTTHUMG00000021630 NG_026840 PGOHUM00000241790 HGNC:42465 +HGNC:42466 PGAM4P2 phosphoglycerate mutase family member 4 pseudogene 2 pseudogene pseudogene Approved 4q26 04q26 2011-07-28 2014-11-18 100131611 ENSG00000248488 OTTHUMG00000160123 NG_022028 PGOHUM00000245664 HGNC:42466 +HGNC:28763 PGAM5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "MGC5352|BXLBv68" "phosphoglycerate mutase family member 5|PGAM family member 5, serine/threonine protein phosphatase, mitochondrial" "Serine/threonine phosphatases|Phosphoglycerate mutases" "814|1078" 2006-02-09 2016-03-10 2016-03-10 192111 ENSG00000247077 OTTHUMG00000168021 uc009zyv.4 BC008196 NM_138575 "CCDS9280|CCDS53845" Q96HS1 "11283018|19590015" MGI:1919792 RGD:1312028 614939 HGNC:28763 "ENST00000498926.7|NM_001170543.2" +HGNC:42467 PGAM5P1 PGAM family member 5, mitochondrial serine/threonine protein phosphatase pseudogene 1 pseudogene pseudogene Approved 5q21.3 05q21.3 phosphoglycerate mutase family member 5 pseudogene 1 2011-07-28 2016-03-10 2016-03-10 100421133 ENSG00000253224 OTTHUMG00000163575 NG_024616 PGOHUM00000235351 HGNC:42467 +HGNC:25712 PGAP1 post-GPI attachment to proteins inositol deacylase 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "FLJ12377|Bst1|SPG67" GPI inositol-deacylase post-GPI attachment to proteins 1 2008-02-26 2019-08-30 2021-05-26 80055 ENSG00000197121 OTTHUMG00000132743 uc002utw.4 NM_024989 CCDS2318 Q75T13 "14734546|17711852|24482476" MGI:2443342 RGD:1303213 611655 403377 HGNC:25712 "ENST00000354764.9|NM_024989.4" HGNC:25712 +HGNC:17893 PGAP2 post-GPI attachment to proteins 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FRAG1|CWH43-N" "FGF receptor activating protein 1|cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)" "MRT21|MRT17" "mental retardation, non-syndromic, autosomal recessive, 21|mental retardation, non-syndromic, autosomal recessive, 17" 2009-06-18 2021-05-26 27315 ENSG00000148985 OTTHUMG00000012238 uc057ydq.1 AF159615 NM_001145438 "CCDS73244|CCDS86172|CCDS58113|CCDS86171|CCDS58112|CCDS44523|CCDS73245|CCDS7747" Q9UHJ9 "10585768|16407401|23561846" MGI:2385286 RGD:619744 615187 331952 HGNC:17893 "ENST00000278243.9|NM_014489.4" HGNC:17893 +HGNC:23719 PGAP3 post-GPI attachment to proteins phospholipase 3 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC9753|CAB2|PP1498|PER1" post-GPI attachment to proteins 3 PERLD1 "per1-like domain containing 1|post-GPI attachment to proteins 3" 2004-04-30 2009-06-02 2019-08-30 2021-05-26 93210 ENSG00000161395 OTTHUMG00000179110 uc002hsj.4 AB088396 NM_033419 "CCDS77013|CCDS32641|CCDS77015|CCDS77014" Q96FM1 "15010812|17021251|17314402" MGI:2444461 RGD:1592386 611801 395056 HGNC:23719 "ENST00000300658.9|NM_033419.5" HGNC:23719 +HGNC:28180 PGAP4 post-GPI attachment to proteins GalNAc transferase 4 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 MGC12992 "C9orf125|TMEM246" "chromosome 9 open reading frame 125|transmembrane protein 246" 2004-04-15 2019-08-30 2019-08-30 2019-08-30 84302 ENSG00000165152 OTTHUMG00000020381 uc064uvq.1 BC006115 NM_032342 CCDS6757 Q9BRR3 29374258 MGI:1914313 RGD:1307218 HGNC:28180 "ENST00000374848.8|NM_032342.3" +HGNC:17205 PGAP6 post-GPI attachment to proteins 6 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 M83 "TMEM6|TMEM8|TMEM8A" "transmembrane protein 6|transmembrane protein 8 (five membrane-spanning domains)|transmembrane protein 8A|post-glycosylphosphatidylinositol attachment to proteins 6" TMEM8 family 1957 2001-11-30 2019-09-05 2022-02-24 2022-02-24 58986 ENSG00000129925 OTTHUMG00000047996 uc002cgu.5 AB045292 NM_021259 CCDS10407 Q9HCN3 "11006113|27881714" MGI:1926283 RGD:1311395 619342 HGNC:17205 "ENST00000431232.7|NM_021259.3" +HGNC:19398 PGBD1 piggyBac transposable element derived 1 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "HUCEP-4|dJ874C20.4|SCAND4" "Scavenger receptor cysteine rich domain containing|DNA transposon derived genes" "1404|1415" 2002-10-23 2021-04-27 84547 ENSG00000137338 OTTHUMG00000014520 uc003nkz.4 D88259 NM_001184743 CCDS4648 Q96JS3 MGI:2441675 RGD:9394854 HGNC:19398 "ENST00000682144.1|NM_032507.4" +HGNC:19399 PGBD2 piggyBac transposable element derived 2 protein-coding gene gene with protein product Approved 1q 01q DNA transposon derived genes 1415 2002-10-23 2015-09-04 267002 ENSG00000185220 OTTHUMG00000040424 uc001ifh.4 AF229602 NM_001017434 "CCDS31128|CCDS31129" Q6P3X8 RGD:7548161 HGNC:19399 "ENST00000329291.6|NM_170725.3" +HGNC:19400 PGBD3 piggyBac transposable element derived 3 protein-coding gene gene with protein product Approved 10q11 10q11 FLJ90201 DNA transposon derived genes 1415 2002-10-23 2014-11-19 267004 ENSG00000243251 OTTHUMG00000018193 uc057tet.1 AK074682 NM_170753 CCDS7230 Q8N328 HGNC:19400 +HGNC:19402 PGBD3P1 piggyBac transposable element derived 3 pseudogene 1 pseudogene pseudogene Approved 12q13.12 12q13.12 2002-10-23 2014-11-19 267005 NG_002400 HGNC:19402 +HGNC:19397 PGBD3P2 piggyBac transposable element derived 3 pseudogene 2 pseudogene pseudogene Approved 5p13.3 05p13.3 2002-10-23 2014-11-19 267006 NG_002401 HGNC:19397 +HGNC:19396 PGBD3P3 piggyBac transposable element derived 3 pseudogene 3 pseudogene pseudogene Approved 12q24.2 12q24.2 2002-10-23 2009-09-22 267007 NG_002402 HGNC:19396 +HGNC:19379 PGBD3P4 piggyBac transposable element derived 3 pseudogene 4 pseudogene pseudogene Approved 4p14 04p14 2002-10-23 2014-11-19 267008 NG_002403 HGNC:19379 +HGNC:19401 PGBD4 piggyBac transposable element derived 4 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ32638|FLJ37497" DNA transposon derived genes 1415 2002-10-23 2016-10-05 161779 ENSG00000182405 OTTHUMG00000129370 uc001zho.4 AK057200 NM_152595 CCDS10033 Q96DM1 HGNC:19401 "ENST00000397766.4|NM_152595.5" +HGNC:44066 PGBD4P1 piggyBac transposable element derived 4 pseudogene 1 pseudogene pseudogene Approved 7q34 07q34 2012-05-30 2014-11-19 107161154 ENSG00000244273 OTTHUMG00000158890 NG_001333 PGOHUM00000233613 HGNC:44066 +HGNC:44077 PGBD4P2 piggyBac transposable element derived 4 pseudogene 2 pseudogene pseudogene Approved 20q13.12 20q13.12 2012-05-30 2017-10-30 100421228 ENSG00000277708 OTTHUMG00000187975 NG_024979 PGOHUM00000297003 HGNC:44077 +HGNC:44068 PGBD4P3 piggyBac transposable element derived 4 pseudogene 3 pseudogene pseudogene Approved 5q32 05q32 2012-05-30 2014-11-19 100421136 ENSG00000249834 OTTHUMG00000163432 NG_024731 PGOHUM00000235808 HGNC:44068 +HGNC:44076 PGBD4P4 piggyBac transposable element derived 4 pseudogene 4 pseudogene pseudogene Approved 4q28.3 04q28.3 2012-05-30 2014-11-19 100421146 ENSG00000248877 OTTHUMG00000161057 NG_025253 PGOHUM00000246078 HGNC:44076 +HGNC:44070 PGBD4P5 piggyBac transposable element derived 4 pseudogene 5 pseudogene pseudogene Approved 2p11.2 02p11.2 2012-05-30 2014-11-19 100421123 ENSG00000225136 OTTHUMG00000151537 NG_023585 PGOHUM00000240143 HGNC:44070 +HGNC:44071 PGBD4P6 piggyBac transposable element derived 4 pseudogene 6 pseudogene pseudogene Approved Xq27.3 Xq27.3 2012-05-30 2014-11-19 100421180 ENSG00000226064 OTTHUMG00000022576 NG_026900 PGOHUM00000242055 HGNC:44071 +HGNC:44074 PGBD4P7 piggyBac transposable element derived 4 pseudogene 7 pseudogene pseudogene Approved 1p21.3 01p21.3 2012-05-30 2017-02-17 100421182 NG_026961 PGOHUM00000295762 HGNC:44074 +HGNC:44075 PGBD4P8 piggyBac transposable element derived 4 pseudogene 8 pseudogene pseudogene Approved 1p32.1 01p32.1 2012-05-30 2012-05-30 100421185 ENSG00000229332 OTTHUMG00000008993 NG_027099 PGOHUM00000244736 HGNC:44075 +HGNC:19405 PGBD5 piggyBac transposable element derived 5 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "DKFZp761A0620|FLJ11413" DNA transposon derived genes 1415 2002-10-23 2015-08-25 79605 ENSG00000177614 OTTHUMG00000037759 uc057qgx.1 AK021475 NM_024554 CCDS81430 Q8N414 MGI:2429955 RGD:1310825 616791 HGNC:19405 "ENST00000391860.7|NM_001258311.2" +HGNC:39503 PGBP pepsinogen B, pseudogene pseudogene pseudogene Approved 1p13.2 01p13.2 PGCP1 "progastricsin (pepsinogen C) pseudogene 1|progastricsin pseudogene 1" 2011-01-31 2019-09-16 2019-09-16 2019-09-16 441897 ENSG00000227179 OTTHUMG00000011171 NR_029429 22427897 PGOHUM00000244143 HGNC:39503 +HGNC:8890 PGC progastricsin protein-coding gene gene with protein product Approved 6p21.1 06p21.1 pepsinogen C progastricsin (pepsinogen C) Pepsinogens 1927 2001-06-22 2016-06-01 2016-06-01 5225 ENSG00000096088 OTTHUMG00000014683 uc003ora.3 NM_001166424 "CCDS4859|CCDS55000" P20142 MGI:98909 RGD:3943 169740 A01.003 objectId:2391 3.4.23.3 HGNC:8890 "ENST00000373025.7|NM_002630.4" +HGNC:8891 PGD phosphogluconate dehydrogenase protein-coding gene gene with protein product Approved 1p36.22 01p36.22 2001-06-22 2014-11-18 5226 ENSG00000142657 OTTHUMG00000001905 uc001arc.4 BC000368 NM_002631 CCDS113 P52209 MGI:97553 RGD:1583832 172200 470868 1.1.1.43 HGNC:8891 "ENST00000270776.13|NM_002631.4" +HGNC:8892 PGDP1 phosphogluconate dehydrogenase pseudogene 1 pseudogene pseudogene Approved 18q12.1 18q12.1 PGDL1 phosphogluconate dehydrogenase-like 1 1989-05-25 2010-10-21 2010-10-21 2020-04-20 342705 ENSG00000265273 OTTHUMG00000179618 NG_022489 PGOHUM00000294762 HGNC:8892 +HGNC:39144 PGDP2 phosphogluconate dehydrogenase pseudogene 2 pseudogene pseudogene Approved 12q21.2 12q21.2 2010-10-21 2010-10-21 100129649 NG_021727 PGOHUM00000239859 HGNC:39144 +HGNC:8893 PGF placental growth factor protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "PlGF-2|SHGC-10760|D12S1900|PIGF|PLGF|PlGF" placenta growth factor PGFL "placental growth factor-like|placental growth factor, vascular endothelial growth factor-related protein" VEGF family 1267 1994-01-14 2008-03-20 2020-03-26 5228 ENSG00000119630 OTTHUMG00000171496 uc001xqz.4 S72960 NM_002632 "CCDS73664|CCDS9835|CCDS55932" P49763 7681160 MGI:105095 RGD:619850 601121 ligandId:5314 HGNC:8893 "ENST00000555567.6|NM_002632.6" +HGNC:26210 PGGHG protein-glucosylgalactosylhydroxylysine glucosidase protein-coding gene gene with protein product Approved 11p15.5 11p15.5 FLJ22635 ATHL1 ATH1, acid trehalase-like 1 (yeast) Glycoside hydrolases 1650 2005-10-27 2016-06-14 2016-06-14 2016-06-14 80162 ENSG00000142102 OTTHUMG00000153218 uc010qvu.3 AK090428 NM_025092 CCDS31322 Q32M88 26682924 MGI:2444047 RGD:1306015 617032 3.2.1.107 HGNC:26210 "ENST00000409548.7|NM_025092.5" +HGNC:8895 PGGT1B protein geranylgeranyltransferase type I subunit beta protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "GGTI|BGGI" protein geranylgeranyltransferase type I, beta subunit 1997-07-25 2016-01-27 2016-10-05 5229 ENSG00000164219 OTTHUMG00000128893 uc003kqw.5 NM_005023 CCDS4116 P53609 8106351 MGI:1917514 RGD:621754 602031 HGNC:8895 "ENST00000419445.6|NM_005023.4" +HGNC:45024 PGGT1BP1 protein geranylgeranyltransferase type I subunit beta pseudogene 1 pseudogene pseudogene Approved 10q11.23 10q11.23 2013-01-08 2016-06-14 2016-06-14 653895 ENSG00000213667 OTTHUMG00000018233 NG_028750 PGOHUM00000238491 HGNC:45024 +HGNC:45112 PGGT1BP2 protein geranylgeranyltransferase type I subunit beta pseudogene 2 pseudogene pseudogene Approved 10q22.3 10q22.3 2013-02-15 2016-06-14 2016-06-14 100132402 ENSG00000214584 OTTHUMG00000018591 NG_022149 PGOHUM00000238555 HGNC:45112 +HGNC:8896 PGK1 phosphoglycerate kinase 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 1989-04-24 2021-05-26 5230 ENSG00000102144 OTTHUMG00000021888 uc004ecz.5 L00159 NM_000291 CCDS14438 P00558 "6188151|6099325" MGI:97555 RGD:619878 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PGK1 311800 124227 2.7.2.3 HGNC:8896 "ENST00000373316.5|NM_000291.4" HGNC:8896 +HGNC:8897 PGK1P1 phosphoglycerate kinase 1 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 1989-04-24 2017-06-16 2020-04-07 5231 ENSG00000228328 OTTHUMG00000021741 X56251 NG_001170 "1549504|28618048" PGOHUM00000304679 HGNC:8897 +HGNC:8899 PGK1P2 phosphoglycerate kinase 1, pseudogene 2 pseudogene pseudogene Approved 19p13.2 19p13.2 1989-02-21 2002-04-19 2017-03-10 5233 ENSG00000213290 OTTHUMG00000156420 AC010422 NG_001528 "3016919|3502690" PGOHUM00000234519 HGNC:8899 +HGNC:8898 PGK2 phosphoglycerate kinase 2 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "PGKPS|PGK-2" phosphoglycerate kinase, testis specific 1991-08-18 2002-04-19 2021-11-23 5232 ENSG00000170950 OTTHUMG00000014824 uc003ozu.5 K03019 NM_138733 CCDS4930 P07205 "3839763|3453121" MGI:97563 RGD:1306627 172270 2.7.2.3 HGNC:8898 "ENST00000304801.6|NM_138733.5" HGNC:8898 +HGNC:8903 PGLS 6-phosphogluconolactonase protein-coding gene gene with protein product Approved 19p13.11 19p13.11 6PGL 2000-01-20 2019-04-30 25796 ENSG00000130313 OTTHUMG00000182879 uc002ngw.4 AJ243972 NM_012088 CCDS12361 O95336 10518023 MGI:1913421 RGD:1307001 604951 3.1.1.31 HGNC:8903 "ENST00000252603.7|NM_012088.3" +HGNC:55274 PGLS-DT PGLS divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.11 19p13.11 Divergent transcripts 1990 2020-10-05 2020-10-05 100507551 ENSG00000269439 NR_147835 +HGNC:8904 PGLYRP1 peptidoglycan recognition protein 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "TAG7|PGRP|PGRP-S|PGRPS" "TNFSF3L|PGLYRP" peptidoglycan recognition protein Peptidoglycan recognition proteins 1397 1999-01-15 2004-03-19 2004-03-17 2015-07-22 8993 ENSG00000008438 OTTHUMG00000182489 uc002pdx.4 AF076483 NM_005091 CCDS12680 O75594 "9707603|12669421" MGI:1345092 RGD:621429 604963 HGNC:8904 "ENST00000008938.5|NM_005091.3" +HGNC:30013 PGLYRP2 peptidoglycan recognition protein 2 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "PGRP-L|PGLYRPL|TAGL-like|tagL|tagL-alpha|tagl-beta|PGRPL" "peptidoglycan recognition protein L precursor|peptidoglycan recognition protein-like|N-acetylmuramoyl-L-alanine amidase" Peptidoglycan recognition proteins 1397 2004-03-17 2014-11-19 114770 ENSG00000161031 OTTHUMG00000150690 uc002nbf.5 AY358156 NM_052890 "CCDS12330|CCDS86718" Q96PD5 "11461926|12669421|14506276" MGI:1928099 RGD:1359183 608199 3.5.1.28 HGNC:30013 "ENST00000340880.5|NM_052890.4" +HGNC:30014 PGLYRP3 peptidoglycan recognition protein 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PGRPIA|PGLYRPIalpha|PGRP-Ialpha" peptidoglycan recognition protein I alpha precursor Peptidoglycan recognition proteins 1397 2004-03-17 2016-10-05 114771 ENSG00000159527 OTTHUMG00000014044 uc001fbn.1 AY035376 NM_052891 CCDS1035 Q96LB9 11461926 MGI:2685266 RGD:1593164 608197 HGNC:30014 "ENST00000683862.1|NM_052891.3" +HGNC:30015 PGLYRP4 peptidoglycan recognition protein 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "SBBI67|PGRPIB|PGLYRPIbeta|PGRP-Ibeta" peptidoglycan recognition protein I beta precursor Peptidoglycan recognition proteins 1397 2004-03-17 2016-10-05 57115 ENSG00000163218 OTTHUMG00000037057 uc001fbo.4 AF242518 NM_020393 CCDS30871 Q96LB8 11461926 MGI:2686324 RGD:1308520 608198 HGNC:30015 "ENST00000359650.10|NM_020393.4" +HGNC:8905 PGM1 phosphoglucomutase 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 2001-06-22 2021-05-26 5236 ENSG00000079739 OTTHUMG00000008968 uc001dbh.5 BC019920 NM_002633 "CCDS625|CCDS53324|CCDS53323" P36871 "4517931|1530890" MGI:97565 RGD:3316 171900 124229 5.4.2.2 HGNC:8905 "ENST00000371084.8|NM_002633.3" HGNC:8905 +HGNC:8906 PGM2 phosphoglucomutase 2 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ10983 phosphopentomutase 2001-06-22 2014-11-19 55276 ENSG00000169299 OTTHUMG00000097813 uc011byb.2 BC010087 NM_018290 CCDS3443 Q96G03 9549096 MGI:97564 RGD:1306061 172000 5.4.2.2 HGNC:8906 "ENST00000381967.9|NM_018290.4" +HGNC:20898 PGM2L1 phosphoglucomutase 2 like 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FLJ32029|BM32A" glucose-1,6-bisphosphate synthase 2004-01-20 2016-06-17 2016-10-05 283209 ENSG00000165434 OTTHUMG00000168132 uc001ovb.2 AB019210 NM_173582 CCDS8231 Q6PCE3 17804405 MGI:1918224 RGD:1583226 611610 HGNC:20898 "ENST00000298198.5|NM_173582.6" +HGNC:8907 PGM3 phosphoglucomutase 3 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "AGM1|DKFZP434B187|PAGM" "acetylglucosamine phosphomutase|phosphoacetylglucosamine mutase" 2001-06-22 2021-05-26 5238 ENSG00000013375 OTTHUMG00000015110 uc003pju.3 BC001258 NM_015599 "CCDS75487|CCDS56435|CCDS4997|CCDS56436" O95394 "12174217|10721701" MGI:97566 RGD:1305221 LRG_1312|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1312.xml 172100 446811 5.4.2.3 HGNC:8907 "ENST00000513973.6|NM_015599.3" HGNC:8907 +HGNC:8908 PGM5 phosphoglucomutase 5 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 PGMRP phosphoglucomutase-related protein 1995-08-15 2016-10-05 5239 ENSG00000154330 OTTHUMG00000019966 uc004agr.3 L40933 NM_021965 CCDS6622 Q15124 "8586438|8631316" MGI:1925668 RGD:1307969 600981 HGNC:8908 "ENST00000396396.6|NM_021965.4" +HGNC:44181 PGM5-AS1 PGM5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.11 09q21.11 "FAM233A|LOC572558" family with sequence similarity 233, member A PGM5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2019-06-19 572558 ENSG00000224958 OTTHUMG00000019962 uc064tob.1 AY343894 NR_015423 "27130667|28797257|31185143" PGM5-AS1 HGNC:44181 +HGNC:28452 PGM5P1 phosphoglucomutase 5 pseudogene 1 pseudogene pseudogene Approved 9q12 not on reference assembly 09q12 not on reference assembly 2005-08-02 2020-04-20 653394 "12421752|15233989" PGOHUM00000263221 +HGNC:18965 PGM5P2 phosphoglucomutase 5 pseudogene 2 pseudogene pseudogene Approved 9p11.2 09p11.2 AK096159 2005-08-02 2016-12-21 595135 ENSG00000277778 OTTHUMG00000188612 uc004aff.5 "BC007887|BC025351" NR_002836 "12421752|15233989|27716329" PGOHUM00000303823 HGNC:18965 +HGNC:49604 PGM5P3 phosphoglucomutase 5 pseudogene 3 pseudogene pseudogene Approved 9p24.3 09p24.3 2014-01-23 2015-02-03 101929157 NG_052643 PGOHUM00000235941 HGNC:49604 +HGNC:51194 PGM5P3-AS1 PGM5P3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 FAM233B family with sequence similarity 233, member B Antisense RNAs 1987 2014-08-01 2020-09-10 101929127 ENSG00000277631 OTTHUMG00000019423 NR_121188 32754899 PGM5P3-AS1 HGNC:51194 +HGNC:49605 PGM5P4 phosphoglucomutase 5 pseudogene 4 pseudogene pseudogene Approved 2q13 02q13 2014-01-23 2014-01-23 729468 ENSG00000225398 OTTHUMG00000047819 NR_146438 PGOHUM00000240872 HGNC:49605 +HGNC:51195 PGM5P4-AS1 PGM5P4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 FAM233C family with sequence similarity 233, member C Antisense RNAs 1987 2014-08-01 2014-08-01 103344932 ENSG00000231943 OTTHUMG00000047830 NR_121185 PGM5P4-AS1 HGNC:51195 +HGNC:8909 PGP phosphoglycolate phosphatase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 2001-06-22 2015-08-13 283871 ENSG00000184207 OTTHUMG00000177047 uc002cpk.2 BC035985 NM_024118 CCDS42104 A6NDG6 MGI:1914328 RGD:1307773 172280 3.1.3.18 HGNC:8909 "ENST00000333503.8|NM_001042371.3" +HGNC:13568 PGPEP1 pyroglutamyl-peptidase I protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "PGP-I|Pcp|PGP|PGPI" pyroglutamyl aminopeptidase 2001-01-26 2019-08-21 54858 ENSG00000130517 OTTHUMG00000183358 uc002nis.2 AJ278828 NM_017712 "CCDS74314|CCDS77264|CCDS12375|CCDS82319" Q9NXJ5 MGI:1913772 RGD:1303133 610694 C15.010 3.4.19.3 HGNC:13568 "ENST00000269919.11|NM_017712.4" +HGNC:27080 PGPEP1L pyroglutamyl-peptidase I like protein-coding gene gene with protein product Approved 15q26.3 15q26.3 2010-02-16 2018-01-26 2018-01-26 145814 ENSG00000183571 OTTHUMG00000171896 uc002bum.4 NM_001102612.2 "CCDS58400|CCDS53977" A6NFU8 MGI:1925694 RGD:1561859 HGNC:27080 "ENST00000535714.2|NM_001167902.2" +HGNC:8910 PGR progesterone receptor protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "PR|NR3C3" Nuclear receptor subfamily 3 group C 2076 2001-06-22 2018-07-11 5241 ENSG00000082175 OTTHUMG00000167531 uc001pgh.3 M15716 NM_000926 "CCDS8310|CCDS59229" P06401 MGI:97567 RGD:3317 607311 470870 objectId:627 HGNC:8910 "ENST00000325455.10|NM_000926.4" +HGNC:52650 PGR-AS1 PGR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q22.1 11q22.1 "AT1|AT2|AT3" PR-antisense-transcripts Antisense RNAs 1987 2016-11-24 2016-11-24 101054525 ENSG00000282728 OTTHUMG00000167532 NR_073144 18604220 prantisensetranscripts HGNC:52650 +HGNC:16090 PGRMC1 progesterone receptor membrane component 1 protein-coding gene gene with protein product Approved Xq24 Xq24 HPR6.6 Membrane associated progesterone receptor family 1282 2001-07-25 2020-04-02 10857 ENSG00000101856 OTTHUMG00000022268 uc004erb.5 NM_006667 "CCDS14576|CCDS65313" O00264 9705155 MGI:1858305 RGD:70890 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PGRMC1 300435 470872 HGNC:16090 "ENST00000217971.8|NM_006667.5" +HGNC:16089 PGRMC2 progesterone receptor membrane component 2 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 "PMBP|DG6" Membrane associated progesterone receptor family 1282 2001-07-25 2016-10-05 10424 ENSG00000164040 OTTHUMG00000133342 uc062zmv.1 NM_006320 CCDS3739 O15173 9705155 MGI:1918054 RGD:1308804 607735 HGNC:16089 "ENST00000296425.10|NM_006320.6" +HGNC:30029 PGS1 phosphatidylglycerophosphate synthase 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 DKFZP762M186 2005-11-15 2022-01-06 9489 ENSG00000087157 OTTHUMG00000177514 uc002jvm.4 NM_024419 CCDS42391 Q32NB8 9880566 MGI:1921701 RGD:1305052 614942 HGNC:30029 "ENST00000262764.11|NM_024419.5" +HGNC:20990 PHACTR1 phosphatase and actin regulator 1 protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "KIAA1733|dJ257A7.2" RPEL1 RPEL repeat containing 1 Phosphatase and actin regulators 679 2003-05-19 2004-05-21 2004-05-20 2021-05-26 221692 ENSG00000112137 OTTHUMG00000014270 uc010jpc.4 AB051520 NM_001242648 CCDS75401 Q9C0D0 "11214970|15107502" MGI:2659021 RGD:1303187 608723 HGNC:20990 "ENST00000332995.12|NM_030948.6" HGNC:20990 +HGNC:20956 PHACTR2 phosphatase and actin regulator 2 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 KIAA0680 C6orf56 chromosome 6 open reading frame 56 Phosphatase and actin regulators 679 2003-04-24 2004-05-20 2004-05-20 2016-10-05 9749 ENSG00000112419 OTTHUMG00000015732 uc010khh.4 AB014580 NM_014721 "CCDS47492|CCDS43512|CCDS47493|CCDS47494" O75167 "9734811|15107502" MGI:2446138 RGD:1303141 608724 HGNC:20956 "ENST00000440869.7|NM_001100164.2" +HGNC:40943 PHACTR2-AS1 PHACTR2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.2 06q24.2 "NR027113|lncIHS" lncRNA intersection between HBx microarray and SMYD3 microarray Antisense RNAs 1987 2015-10-15 2019-07-17 285740 ENSG00000235740 OTTHUMG00000015731 NR_027114 "30468465|31128422" PHACTR2-AS1 HGNC:40943 +HGNC:49488 PHACTR2P1 phosphatase and actin regulator 2 pseudogene 1 pseudogene pseudogene Approved 10q26.11 10q26.11 2013-12-20 2013-12-20 100533676 ENSG00000270300 OTTHUMG00000184679 NG_028754 PGOHUM00000258506 HGNC:49488 +HGNC:15833 PHACTR3 phosphatase and actin regulator 3 protein-coding gene gene with protein product Approved 20q13.32-q13.33 20q13.32-q13.33 PPP1R123 protein phosphatase 1, regulatory subunit 123 C20orf101 chromosome 20 open reading frame 101 "Phosphatase and actin regulators|Protein phosphatase 1 regulatory subunits" "679|694" 2001-06-15 2004-05-20 2004-05-20 2018-02-13 116154 ENSG00000087495 OTTHUMG00000032869 uc002yau.5 AJ311122 NM_080672 "CCDS42895|CCDS56202|CCDS13481|CCDS13480" Q96KR7 15107502 MGI:1921439 RGD:1303029 608725 HGNC:15833 "ENST00000371015.6|NM_080672.5" +HGNC:40727 PHACTR3-AS1 PHACTR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.32 20q13.32 Antisense RNAs 1987 2019-09-19 2019-09-19 100506384 ENSG00000238194 OTTHUMG00000137388 NR_040513 HGNC:40727 +HGNC:25793 PHACTR4 phosphatase and actin regulator 4 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "FLJ13171|PPP1R124" protein phosphatase 1, regulatory subunit 124 "Phosphatase and actin regulators|Protein phosphatase 1 regulatory subunits" "679|694" 2004-05-20 2016-10-05 65979 ENSG00000204138 OTTHUMG00000003541 uc001bpy.5 AF130081 NM_023923 "CCDS41294|CCDS41293" Q8IZ21 "11483580|15107502" MGI:2140327 RGD:1592823 608726 HGNC:25793 "ENST00000373839.8|NM_001048183.3" +HGNC:29564 PHAF1 phagosome assembly factor 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "lin-10|FLJ12076" "C16orf6|LIN10|C16orf70" "chromosome 16 open reading frame 6|chromosome 16 open reading frame 70" 2005-08-17 2021-02-15 2021-02-15 2021-02-15 80262 ENSG00000125149 OTTHUMG00000137510 uc002erd.4 AK022138 NM_025187 CCDS10828 Q9BSU1 33499712 MGI:2443049 RGD:621098 HGNC:29564 "ENST00000219139.8|NM_025187.5" +HGNC:10241 PHAX phosphorylated adaptor for RNA export protein-coding gene gene with protein product Approved 5q23.2 05q23.2 FLJ13193 RNUXA RNA U, small nuclear RNA export adaptor (phosphorylation regulated) 2000-06-16 2008-10-01 2008-10-01 2014-11-18 51808 ENSG00000164902 OTTHUMG00000163273 uc003kua.3 AK023255 NM_032177 CCDS4138 Q9H814 10786834 MGI:1891839 RGD:708448 604924 HGNC:10241 "ENST00000297540.5|NM_032177.4" +HGNC:8912 PHB1 prohibitin 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 PHB prohibitin 1991-03-04 2021-11-01 2021-11-01 2021-11-01 5245 ENSG00000167085 OTTHUMG00000134271 uc032fme.2 NM_002634 "CCDS11548|CCDS62244" P35232 "10376528|8244394" MGI:97572 RGD:3322 176705 HGNC:8912 "ENST00000300408.8|NM_002634.4" +HGNC:8913 PHB1P1 PHB1 pseudogene 1 pseudogene pseudogene Approved 6q25.1 06q25.1 PHBP1 prohibitin pseudogene 1 1993-11-04 2021-11-10 2021-11-10 2021-11-10 5246 ENSG00000213091 OTTHUMG00000015817 L14273 NG_001171 "8244394|28404970" PGOHUM00000243820 HGNC:8913 +HGNC:8914 PHB1P2 PHB1 pseudogene 2 pseudogene pseudogene Approved 11p11.2 11p11.2 PHBP2 prohibitin pseudogene 2 1993-11-04 2021-11-10 2021-11-10 2021-11-10 100418837 ENSG00000254512 OTTHUMG00000166404 NG_024480 8244394 PGOHUM00000290886 HGNC:8914 +HGNC:8915 PHB1P3 PHB1 pseudogene 3 pseudogene pseudogene Approved 1p32.1 01p32.1 PHBP3 prohibitin pseudogene 3 1993-11-04 2021-11-10 2021-11-10 2021-11-10 391044 ENSG00000228121 OTTHUMG00000008378 NG_022781 8244394 PGOHUM00000244735 HGNC:8915 +HGNC:8916 PHB1P4 PHB1 pseudogene 4 pseudogene pseudogene Approved 2q24.1 02q24.1 PHBP4 prohibitin pseudogene 4 1993-11-04 2021-11-10 2021-11-10 2021-11-10 100418774 ENSG00000230251 OTTHUMG00000153847 NG_023743 8244394 PGOHUM00000240990 HGNC:8916 +HGNC:39284 PHB1P5 PHB1 pseudogene 5 pseudogene pseudogene Approved 7q11.23 07q11.23 PHBP5 prohibitin pseudogene 5 2010-11-26 2021-11-10 2021-11-10 2021-11-10 106478939 ENSG00000233523 OTTHUMG00000156703 NG_043647 PGOHUM00000232866 HGNC:39284 +HGNC:39285 PHB1P6 PHB1 pseudogene 6 pseudogene pseudogene Approved 7q11.23 07q11.23 PHBP6 prohibitin pseudogene 6 2010-11-26 2021-11-10 2021-11-10 2021-11-10 106478940 ENSG00000276592 OTTHUMG00000188296 NG_043655 PGOHUM00000302809 HGNC:39285 +HGNC:39286 PHB1P7 PHB1 pseudogene 7 pseudogene pseudogene Approved 9q21.33 09q21.33 PHBP7 prohibitin pseudogene 7 2010-11-26 2021-11-10 2021-11-10 2021-11-10 548599 ENSG00000213711 OTTHUMG00000020128 NG_005066 PGOHUM00000236671 HGNC:39286 +HGNC:39287 PHB1P8 PHB1 pseudogene 8 pseudogene pseudogene Approved 3q13.33 03q13.33 PHBP8 prohibitin pseudogene 8 2010-11-26 2021-11-10 2021-11-10 2021-11-10 100418804 ENSG00000240471 OTTHUMG00000159405 NG_025728 PGOHUM00000238141 HGNC:39287 +HGNC:39288 PHB1P9 PHB1 pseudogene 9 pseudogene pseudogene Approved 10q24.31 10q24.31 PHBP9 prohibitin pseudogene 9 2010-11-26 2021-11-10 2021-11-10 2021-11-10 100289414 ENSG00000230224 OTTHUMG00000018902 NG_041811 PGOHUM00000238905 HGNC:39288 +HGNC:39289 PHB1P10 PHB1 pseudogene 10 pseudogene pseudogene Approved Xq22.3 Xq22.3 PHBP10 prohibitin pseudogene 10 2010-11-26 2021-11-10 2021-11-10 2021-11-10 100418815 ENSG00000232665 OTTHUMG00000022127 NG_012566 PGOHUM00000241487 HGNC:39289 +HGNC:39290 PHB1P11 PHB1 pseudogene 11 pseudogene pseudogene Approved 1q41 01q41 PHBP11 prohibitin pseudogene 11 2010-11-26 2021-11-10 2021-11-10 2021-11-10 644214 ENSG00000227621 OTTHUMG00000037468 NG_022754 PGOHUM00000244447 HGNC:39290 +HGNC:39291 PHB1P12 PHB1 pseudogene 12 pseudogene pseudogene Approved 1p32.3 01p32.3 PHBP12 prohibitin pseudogene 12 2010-11-26 2021-11-10 2021-11-10 2021-11-10 100418820 ENSG00000230585 OTTHUMG00000007928 NG_027089 PGOHUM00000244713 HGNC:39291 +HGNC:39292 PHB1P13 PHB1 pseudogene 13 pseudogene pseudogene Approved 13q13.3 13q13.3 PHBP13 prohibitin pseudogene 13 2010-11-26 2021-11-10 2021-11-10 2021-11-10 100418843 ENSG00000234835 OTTHUMG00000016722 NG_024915 PGOHUM00000248566 HGNC:39292 +HGNC:39293 PHB1P14 PHB1 pseudogene 14 pseudogene pseudogene Approved 4q32.3 04q32.3 PHBP14 prohibitin pseudogene 14 2010-11-26 2021-11-10 2021-11-10 2021-11-10 100873751 ENSG00000248913 OTTHUMG00000161191 NG_032242 PGOHUM00000250801 HGNC:39293 +HGNC:39294 PHB1P15 PHB1 pseudogene 15 pseudogene pseudogene Approved 7q11.23 07q11.23 PHBP15 prohibitin pseudogene 15 2010-11-26 2021-11-10 2021-11-10 2021-11-10 100873752 ENSG00000262648 OTTHUMG00000188290 NG_032243 PGOHUM00000302299 HGNC:39294 +HGNC:51549 PHB1P16 PHB1 pseudogene 16 pseudogene pseudogene Approved 11q21 11q21 PHBP16 prohibitin pseudogene 16 2015-03-05 2021-11-10 2021-11-10 2021-11-10 100128102 ENSG00000227593 OTTHUMG00000167752 PGOHUM00000290655 HGNC:51549 +HGNC:51550 PHB1P17 PHB1 pseudogene 17 pseudogene pseudogene Approved 11q24.1 11q24.1 PHBP17 prohibitin pseudogene 17 2015-03-05 2021-11-10 2021-11-10 2021-11-10 106480420 ENSG00000254407 OTTHUMG00000166001 NG_043202 PGOHUM00000290736 HGNC:51550 +HGNC:51551 PHB1P18 PHB1 pseudogene 18 pseudogene pseudogene Approved 12q13.11 12q13.11 PHBP18 prohibitin pseudogene 18 2015-03-05 2021-11-10 2021-11-10 2021-11-10 390311 ENSG00000257885 OTTHUMG00000169900 NG_021687 PGOHUM00000291326 HGNC:51551 +HGNC:51552 PHB1P19 PHB1 pseudogene 19 pseudogene pseudogene Approved 12q13.13 12q13.13 PHBP19 prohibitin pseudogene 19 2015-03-05 2021-11-10 2021-11-10 2021-11-10 494150 ENSG00000257246 OTTHUMG00000169648 NG_004766 PGOHUM00000291337 HGNC:51552 +HGNC:51553 PHB1P20 PHB1 pseudogene 20 pseudogene pseudogene Approved 15q24.1 15q24.1 PHBP20 prohibitin pseudogene 20 2015-03-05 2021-11-10 2021-11-10 2021-11-10 100130579 ENSG00000271072 OTTHUMG00000184900 NG_030305 PGOHUM00000293285 HGNC:51553 +HGNC:51554 PHB1P21 PHB1 pseudogene 21 pseudogene pseudogene Approved 16q12.2 16q12.2 PHBP21 prohibitin pseudogene 21 2015-03-05 2021-11-10 2021-11-10 2021-11-10 390730 ENSG00000260326 OTTHUMG00000173183 NG_022521 PGOHUM00000293863 HGNC:51554 +HGNC:30306 PHB2 prohibitin 2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "REA|BCAP37|Bap37|p22" B cell receptor associated protein 37 2005-02-24 2021-05-26 11331 ENSG00000215021 OTTHUMG00000168519 uc058kpb.1 AF126021 NM_007273 "CCDS58207|CCDS53741" Q99623 "11302691|9259555" MGI:102520 RGD:620203 610704 HGNC:30306 "ENST00000535923.6|NM_001144831.2" +HGNC:45249 PHB2P1 PHB2 pseudogene 1 pseudogene pseudogene Approved 10q25.1 10q25.1 prohibitin 2 pseudogene 1 2013-03-11 2021-11-10 2021-11-10 645318 ENSG00000232728 OTTHUMG00000019025 NG_022190 PGOHUM00000238914 HGNC:45249 +HGNC:3182 PHC1 polyhomeotic homolog 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HPH1|RAE28" EDR1 "early development regulator 1 (homolog of polyhomeotic 1)|polyhomeotic-like 1 (Drosophila)|polyhomeotic homolog 1 (Drosophila)" Sterile alpha motif domain containing 760 1997-09-12 2002-11-15 2016-01-22 2016-10-05 1911 ENSG00000111752 OTTHUMG00000168275 uc001qve.4 U89277 NM_004426 CCDS8597 P78364 9121482 MGI:103248 RGD:1309203 602978 326554 HGNC:3182 "ENST00000544916.6|NM_004426.3" HGNC:3182 +HGNC:34502 PHC1P1 polyhomeotic homolog 1 pseudogene 1 pseudogene pseudogene Approved 12q13.2 12q13.2 PHC1B "polyhomeotic homolog 1B (Drosophila)|polyhomeotic homolog 1 (Drosophila) pseudogene 1" 2008-08-05 2011-09-02 2016-01-22 2016-01-22 653441 ENSG00000179899 OTTHUMG00000170978 XM_934166 PGOHUM00000258678 HGNC:34502 +HGNC:3183 PHC2 polyhomeotic homolog 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 HPH2 EDR2 "early development regulator 2 (homolog of polyhomeotic 2)|polyhomeotic-like 2 (Drosophila)|polyhomeotic homolog 2 (Drosophila)" "Sterile alpha motif domain containing|MicroRNA protein coding host genes" "760|1691" 1997-09-12 2002-11-15 2016-01-22 2016-10-05 1912 ENSG00000134686 OTTHUMG00000004133 uc001bxg.2 AJ419231 NM_198040 "CCDS81298|CCDS378|CCDS379" Q8IXK0 "9121482|12384788" MGI:1860454 RGD:1307912 602979 HGNC:3183 "ENST00000683057.1|NM_001385109.1" +HGNC:40205 PHC2-AS1 PHC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p35.1 01p35.1 Antisense RNAs 1987 2019-09-19 2019-09-19 101929464 ENSG00000233246 OTTHUMG00000004127 NR_125978 HGNC:40205 +HGNC:15682 PHC3 polyhomeotic homolog 3 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "EDR3|FLJ12967|FLJ12729|HPH3" "early development regulator 3|polyhomeotic like 3" "polyhomeotic like 3 (Drosophila)|polyhomeotic homolog 3 (Drosophila)" Sterile alpha motif domain containing 760 2002-10-03 2016-01-22 2016-10-05 80012 ENSG00000173889 OTTHUMG00000158777 uc003fgl.3 NM_024947 "CCDS46952|CCDS77858" Q8NDX5 "12167701|12384788" MGI:2181434 RGD:1307998 HGNC:15682 "ENST00000495893.7|NM_024947.4" +HGNC:26509 PHETA1 PH domain containing endocytic trafficking adaptor 1 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 "FLJ32356|SES1|IPIP27A" "Sesquipedalian-1|inositol polyphosphate phosphatase-interacting protein A" FAM109A "family with sequence similarity 109, member A|family with sequence similarity 109 member A" Pleckstrin homology domain containing 682 2006-01-17 2018-02-22 2018-02-22 2018-02-22 144717 ENSG00000198324 OTTHUMG00000169547 uc058tgs.1 BC034809 NM_144671 "CCDS53833|CCDS9152" Q8N4B1 21233288 MGI:2442708 RGD:1310656 614239 HGNC:26509 "ENST00000683047.1|NM_144671.6" +HGNC:27161 PHETA2 PH domain containing endocytic trafficking adaptor 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "DKFZp686J07229|SES2|IPIP27B" "Sesquipedalian-2|inositol polyphosphate phosphatase-interacting protein B" FAM109B "family with sequence similarity 109, member B|family with sequence similarity 109 member B" Pleckstrin homology domain containing 682 2006-01-17 2018-02-22 2018-02-22 2018-02-22 150368 ENSG00000177096 OTTHUMG00000151285 uc003bbz.4 BX648402 NM_001002034 CCDS33655 Q6ICB4 12477932 MGI:2443609 RGD:1586415 614240 HGNC:27161 "ENST00000321753.8|NM_001002034.3" +HGNC:8918 PHEX phosphate regulating endopeptidase homolog X-linked protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "PEX|HPDR1|HYP1|XLH" "HYP|HPDR" "phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)|phosphate regulating endopeptidase homolog, X-linked" M13 metallopeptidases 1439 1986-01-06 2017-05-23 2021-05-26 5251 ENSG00000102174 OTTHUMG00000021241 uc004dah.5 U82970 NM_000444 CCDS14204 P78562 "7550339|9070861" MGI:107489 RGD:3323 PHEXdb Locus Database|http://www.phexdb.mcgill.ca 300550 124239 M13.091 HGNC:8918 "ENST00000379374.5|NM_000444.6" HGNC:8918 +HGNC:40445 PHEX-AS1 PHEX antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.11 Xp22.11 PHEX antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873942 ENSG00000224204 OTTHUMG00000021240 uc031tgy.2 NR_046639 PHEX-AS1 HGNC:40445 +HGNC:8919 PHF1 PHD finger protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "MTF2L2|TDRD19C|PCL1" "tudor domain containing 19C|polycomb-like 1" "PHD finger proteins|Tudor domain containing" "88|780" 1997-10-10 2016-10-13 5252 ENSG00000112511 OTTHUMG00000031105 uc003oeh.4 AF029678 NM_002636 "CCDS4778|CCDS4777" O43189 "9545646|18385154" MGI:98647 RGD:1303205 602881 HGNC:8919 "ENST00000374516.8|NM_024165.3" +HGNC:8920 PHF2 PHD finger protein 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "KIAA0662|JHDM1E|CENP-35|KDM7C" "jumonji C domain-containing histone demethylase 1E|centromere protein 35" "PHD finger proteins|Lysine demethylases|MicroRNA protein coding host genes" "88|485|1691" 1998-04-07 2015-03-27 2015-03-27 2016-11-03 5253 ENSG00000197724 OTTHUMG00000020253 uc004aub.4 AF043725 NM_005392 CCDS35069 O75151 "10051327|20129925" MGI:1338034 RGD:1305228 604351 objectId:2697 HGNC:8920 "ENST00000359246.9|NM_005392.4" +HGNC:30241 PHF2P1 PHD finger protein 2 pseudogene 1 pseudogene pseudogene Approved 13q11 13q11 DKFZp686A1627 2010-08-05 2014-11-19 266695 NR_002801 PGOHUM00000248302 HGNC:30241 +HGNC:38808 PHF2P2 PHD finger protein 2 pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 2010-08-05 2010-08-05 2014-11-18 100873793 ENSG00000226057 OTTHUMG00000016472 NG_032221 HGNC:38808 +HGNC:8921 PHF3 PHD finger protein 3 protein-coding gene gene with protein product Approved 6q12 06q12 PHD finger proteins 88 1999-10-13 2014-11-19 23469 ENSG00000118482 OTTHUMG00000014952 uc003pep.2 AF091622 NM_001290259 "CCDS78155|CCDS4966" Q92576 11856869 MGI:2446126 RGD:1304925 607789 HGNC:8921 "ENST00000262043.8|NM_001370348.2" +HGNC:18000 PHF5A PHD finger protein 5A protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "MGC1346|SF3b14b|INI|bK223H9.2|Rds3|SAP14b|SF3B7" splicing factor 3b, subunit 7 "PHD finger proteins|SF3b complex" "88|1517" 2002-11-29 2014-11-19 84844 ENSG00000100410 OTTHUMG00000150966 uc003bab.4 BC007321 NM_032758 CCDS14016 Q7RTV0 "12054543|12234937|18076038" MGI:2156864 RGD:621555 617846 HGNC:18000 "ENST00000216252.4|NM_032758.4" +HGNC:32385 PHF5CP PHD finger protein 5C pseudogene pseudogene pseudogene Approved 19p13.11 19p13.11 PHF5AP1 PHD finger protein 5A pseudogene 1 2005-11-15 2006-09-22 2006-09-22 2016-07-25 450232 ENSG00000267178 OTTHUMG00000182149 NG_004711 PGOHUM00000294908 HGNC:32385 +HGNC:23268 PHF5DP PHD finger protein 5D pseudogene pseudogene pseudogene Approved 3q13.2 03q13.2 2006-09-22 2006-09-22 450238 NG_005422 HGNC:23268 +HGNC:23267 PHF5EP PHD finger protein 5E pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2006-09-22 2006-09-22 2006-09-22 450239 NG_005423 HGNC:23267 +HGNC:23266 PHF5FP PHD finger protein 5F pseudogene pseudogene pseudogene Approved Xq23 Xq23 2006-09-22 2006-09-22 2020-06-04 450246 ENSG00000270431 NG_005424 HGNC:23266 +HGNC:23269 PHF5GP PHD finger protein 5G pseudogene pseudogene pseudogene Approved 2q24.3 02q24.3 2006-09-22 2019-11-28 450234 ENSG00000238259 NG_005421 HGNC:23269 +HGNC:23264 PHF5HP PHD finger protein 5H pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 2006-09-22 2006-09-22 2014-02-12 450250 NG_005425 HGNC:23264 +HGNC:18145 PHF6 PHD finger protein 6 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "KIAA1823|MGC14797|CENP-31" centromere protein 31 "BFLS|BORJ" Borjeson-Forssman-Lehmann syndrome PHD finger proteins 88 2002-02-28 2021-04-13 84295 ENSG00000156531 OTTHUMG00000022453 uc004exj.4 AB058726 NM_032458 "CCDS14639|CCDS14640" Q8IWS0 "12415272|15466013" MGI:1918248 RGD:2323526 LRG_629|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_629.xml PHF6 300414 117602 HGNC:18145 "ENST00000370803.8|NM_001015877.2" HGNC:18145 +HGNC:18458 PHF7 PHD finger protein 7 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "NYD-SP6|HSPC226" PHD finger proteins 88 2002-07-22 2016-10-05 51533 ENSG00000010318 OTTHUMG00000158495 uc003ddy.5 AY014283 NM_016483 "CCDS2855|CCDS2854" Q9BWX1 "11042152|11829468" MGI:1919088 RGD:1308638 HGNC:18458 "ENST00000327906.8|NM_016483.7" +HGNC:20672 PHF8 PHD finger protein 8 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "ZNF422|KIAA1111|JHDM1F|KDM7B" "jumonji C domain-containing histone demethylase 1F|histone lysine demethylase PHF8" "PHD finger proteins|Lysine demethylases" "88|485" 2004-04-30 2020-04-02 23133 ENSG00000172943 OTTHUMG00000021622 uc004dst.4 AB029034 NM_015107 "CCDS55419|CCDS55420|CCDS14355|CCDS55418" Q9UPP1 "10470851|20023638|20644565" MGI:2444341 RGD:1561065 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PHF8 300560 138583 objectId:2698 HGNC:20672 "ENST00000338154.11|NM_015107.3" HGNC:20672 +HGNC:18250 PHF10 PHD finger protein 10 protein-coding gene gene with protein product Approved 6q27 06q27 "FLJ10975|XAP135|BAF45a|SMARCG4" "PHD finger proteins|BAF complex|PBAF complex" "88|1604|1605" 2003-04-01 2021-07-23 55274 ENSG00000130024 OTTHUMG00000016058 uc011egy.3 AF338735 NM_018288 "CCDS5309|CCDS5308" Q8WUB8 11827455 MGI:1919307 RGD:1305266 613069 HGNC:18250 "ENST00000339209.9|NM_018288.4" +HGNC:23210 PHF10P1 PHD finger protein 10 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 XAP135P 2003-10-13 2020-07-17 158905 ENSG00000228986 AF338734 NG_001314 11827455 HGNC:23210 +HGNC:17024 PHF11 PHD finger protein 11 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "NY-REN-34|BCAP|IGER" IgE responsiveness (atopic) PHD finger proteins 88 2003-05-08 2016-10-05 51131 ENSG00000136147 OTTHUMG00000016916 uc001vdb.4 AB011031 NM_016119 "CCDS41887|CCDS31975" Q9UIL8 "10508479|15057823" "MGI:1918441|MGI:3645789|MGI:3648476|MGI:1277133|MGI:3644962" RGD:1310853 607796 HGNC:17024 "ENST00000378319.8|NM_001040443.3" +HGNC:20816 PHF12 PHD finger protein 12 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "PF1|KIAA1523" "PHD finger proteins|EMSY complex" "88|1243" 2003-05-22 2014-11-19 57649 ENSG00000109118 OTTHUMG00000132676 uc002hdj.1 AB040956 NM_020889 "CCDS76981|CCDS11247|CCDS32598" Q96QT6 11390640 MGI:1924057 RGD:1305731 618645 HGNC:20816 "ENST00000332830.9|NM_001033561.2" +HGNC:22983 PHF13 PHD finger protein 13 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 MGC43399 PHD finger proteins 88 2003-08-11 2016-10-05 148479 ENSG00000116273 OTTHUMG00000001439 uc001aob.5 AK027492 NM_153812 CCDS85 Q86YI8 MGI:2446217 RGD:1308145 HGNC:22983 "ENST00000377648.5|NM_153812.3" +HGNC:22203 PHF14 PHD finger protein 14 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 KIAA0783 PHD finger proteins 88 2003-08-11 2014-11-19 9678 ENSG00000106443 OTTHUMG00000150463 uc284pzq.1 AB018326 NM_014660 CCDS47542 O94880 9872452 MGI:1923539 RGD:1563764 HGNC:22203 "ENST00000634607.2|NM_001007157.2" +HGNC:24566 PHF19 PHD finger protein 19 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "DKFZP727G051|PCL3|MTF2L1|TDRD19B" "polycomb-like 3|tudor domain containing 19B" "PHD finger proteins|Tudor domain containing" "88|780" 2004-01-05 2018-11-16 26147 ENSG00000119403 OTTHUMG00000020577 uc004bks.3 BX640713 NM_001286840 "CCDS35117|CCDS35116|CCDS69648|CCDS75889" Q5T6S3 15563832 MGI:1921266 RGD:1310390 609740 HGNC:24566 "ENST00000373896.8|NM_015651.3" +HGNC:16098 PHF20 PHD finger protein 20 protein-coding gene gene with protein product Approved 20q11.22-q11.23 20q11.22-q11.23 "dJ1121G12.1|TDRD20A" tudor domain containing 20A C20orf104 chromosome 20 open reading frame 104 "PHD finger proteins|Tudor domain containing|NSL histone acetyltransferase complex" "88|780|1482" 2001-07-17 2004-12-01 2004-12-01 2018-02-13 51230 ENSG00000025293 OTTHUMG00000032367 uc002xek.2 AL109965 NM_016436 CCDS13268 Q9BVI0 MGI:2444148 RGD:1305020 610335 HGNC:16098 "ENST00000374012.8|NM_016436.5" +HGNC:24280 PHF20L1 PHD finger protein 20 like 1 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "CGI-72|FLJ13649|MGC64923|FLJ21615|TDRD20B" tudor domain containing 20B "PHD finger proteins|Tudor domain containing" "88|780" 2004-12-01 2017-05-12 2017-05-12 51105 ENSG00000129292 OTTHUMG00000148656 uc003ytt.4 AF230666 NM_016018 "CCDS75791|CCDS6368|CCDS6367" A8MW92 "10810093|24492612" MGI:2444412 RGD:1560141 HGNC:24280 "ENST00000395386.7|NM_016018.5" +HGNC:24156 PHF21A PHD finger protein 21A protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "BHC80|KIAA1696|BM-006" PHD finger proteins 88 2005-02-07 2014-11-19 51317 ENSG00000135365 OTTHUMG00000167038 uc001ncc.5 AL359593 NM_016621 "CCDS31474|CCDS44578" Q96BD5 "11214970|12032298" MGI:2384756 RGD:1560612 608325 308053 HGNC:24156 "ENST00000676320.1|NM_001352027.3" HGNC:24156 +HGNC:25161 PHF21B PHD finger protein 21B protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "BHC80L|FLJ34161" PHF4 PHD finger protein 4 PHD finger proteins 88 2005-02-07 2019-03-01 112885 ENSG00000056487 OTTHUMG00000151199 uc003bfn.4 AK091480 NM_138415 "CCDS63504|CCDS46727|CCDS56234|CCDS14061" Q96EK2 27777418 MGI:2443812 RGD:1308739 616727 HGNC:25161 "ENST00000313237.10|NM_138415.5" +HGNC:28428 PHF23 PHD finger protein 23 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC2941|FLJ16355" PHD finger proteins 88 2005-08-25 2015-08-25 79142 ENSG00000040633 OTTHUMG00000177972 uc002gfa.3 AK122791 NM_024297 "CCDS67144|CCDS67143|CCDS42250" Q9BUL5 MGI:1925496 RGD:1302969 612910 HGNC:28428 "ENST00000320316.8|NM_024297.3" +HGNC:29180 PHF24 PHD finger protein 24 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 KIAA1045 KIAA1045 PHD finger proteins 88 2004-01-06 2015-06-03 2015-06-03 2016-10-05 23349 ENSG00000122733 OTTHUMG00000019844 AB028968 NM_001304333 CCDS43796 Q9UPV7 10470851 MGI:2140712 RGD:1559864 HGNC:29180 +HGNC:8923 PHGDH phosphoglycerate dehydrogenase protein-coding gene gene with protein product Approved 1p12 01p12 "SERA|PGDH|PDG" D-3-phosphoglycerate dehydrogenase 1999-11-22 2018-07-16 26227 ENSG00000092621 OTTHUMG00000012100 uc001ehz.4 BC011262 NM_006623 CCDS904 O43175 MGI:1355330 RGD:61987 606879 117785 1.1.1.95 HGNC:8923 "ENST00000641023.2|NM_006623.4" HGNC:8923 +HGNC:37226 PHGR1 proline, histidine and glycine rich 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 proline/histidine/glycine-rich 1 2009-10-08 2016-06-06 2020-04-01 644844 ENSG00000233041 OTTHUMG00000172416 uc059hrl.1 NM_001145643 CCDS45225 C9JFL3 29415677 MGI:1858382 RGD:1566202 HGNC:37226 "ENST00000448599.2|NM_001145643.2" +HGNC:15673 PHIP pleckstrin homology domain interacting protein protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "ndrp|FLJ20705|DCAF14|BRWD2" DDB1 and CUL4 associated factor 14 WDR11 "WD repeat domain containing|DDB1 and CUL4 associated factors|Bromodomain containing" "362|498|1232" 2001-05-04 2016-10-05 55023 ENSG00000146247 OTTHUMG00000015071 uc003pir.4 AF310250 NM_017934 CCDS4987 Q8WWQ0 11018022 MGI:1932404 RGD:1564964 612870 470874 objectId:2776 HGNC:15673 "ENST00000275034.5|NM_017934.7" HGNC:15673 +HGNC:8925 PHKA1 phosphorylase kinase regulatory subunit alpha 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 PHKA phosphorylase kinase, alpha 1 (muscle) 1989-02-23 2016-05-16 2020-04-02 5255 ENSG00000067177 OTTHUMG00000022696 uc004eax.5 NM_001122670 "CCDS48137|CCDS55453|CCDS14421" P46020 MGI:97576 RGD:621522 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PHKA1 311870 117790 2.7.11.19 HGNC:8925 "ENST00000373542.9|NM_002637.4" HGNC:8925 +HGNC:40446 PHKA1-AS1 PHKA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq13.1 Xq13.1 PHKA1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2020-04-20 101928259 ENSG00000231944 OTTHUMG00000021815 uc033eic.2 NR_110391 PHKA1-AS1 HGNC:40446 +HGNC:33919 PHKA1P1 phosphorylase kinase regulatory subunit alpha 1 pseudogene pseudogene pseudogene Approved 1p22.2 01p22.2 2007-12-18 2016-05-16 2016-05-16 646780 ENSG00000232882 OTTHUMG00000057595 NG_007661 12825073 PGOHUM00000244096 HGNC:33919 +HGNC:8926 PHKA2 phosphorylase kinase regulatory subunit alpha 2 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "PHK|PYK" 1991-05-09 2016-05-16 2020-04-02 5256 ENSG00000044446 OTTHUMG00000021222 uc004cyv.5 NM_000292 CCDS14190 P46019 2387090 MGI:97577 RGD:1596945 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PHKA2 300798 117793 2.7.11.19 HGNC:8926 "ENST00000379942.5|NM_000292.3" HGNC:8926 +HGNC:44110 PHKA2-AS1 PHKA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.13 Xp22.13 PHKA2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100132163 ENSG00000237836 OTTHUMG00000021220 uc004cyt.4 BC073810 NR_029379 PHKA2-AS1 HGNC:44110 +HGNC:8927 PHKB phosphorylase kinase regulatory subunit beta protein-coding gene gene with protein product Approved 16q12.1 16q12.1 phosphorylase kinase, beta 1989-02-23 2016-05-16 2016-10-05 5257 ENSG00000102893 OTTHUMG00000133102 uc002eeu.5 NM_000293 "CCDS10729|CCDS42161" Q93100 MGI:97578 RGD:620186 172490 117797 2.7.11.19 HGNC:8927 "ENST00000323584.10|NM_000293.3" HGNC:8927 +HGNC:8928 PHKBP1 phosphorylase kinase regulatory subunit beta pseudogene 1 pseudogene pseudogene Approved 20p12.3 20p12.3 1995-02-22 2016-05-16 2016-07-22 5258 ENSG00000226262 OTTHUMG00000031845 NG_024957 PGOHUM00000296894 HGNC:8928 +HGNC:8929 PHKBP2 phosphorylase kinase regulatory subunit beta pseudogene 2 pseudogene pseudogene Approved 14q13.3 14q13.3 1995-02-22 2016-05-16 2017-10-30 5259 ENSG00000258467 OTTHUMG00000170729 X85226 NG_001173 8681948 PGOHUM00000292326 HGNC:8929 +HGNC:8930 PHKG1 phosphorylase kinase catalytic subunit gamma 1 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 PHKG phosphorylase kinase, gamma 1 (muscle) 1989-02-23 2016-05-16 2016-05-16 5260 ENSG00000164776 OTTHUMG00000023869 uc003trz.3 X80590 NM_006213 "CCDS59057|CCDS5525" Q16816 8530014 MGI:97579 RGD:3325 172470 352609 objectId:2145 2.7.11.19 HGNC:8930 "ENST00000297373.7|NM_006213.5" +HGNC:33916 PHKG1P1 phosphorylase kinase catalytic subunit gamma 1 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 phosphorylase kinase, gamma 1 pseudogene 1 2007-12-18 2016-05-16 2016-05-16 643941 ENSG00000226075 OTTHUMG00000156263 NG_005544 12825073 PGOHUM00000232780 HGNC:33916 +HGNC:33917 PHKG1P2 phosphorylase kinase catalytic subunit gamma 1 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 phosphorylase kinase, gamma 1 pseudogene 2 2007-12-18 2016-05-16 2016-05-16 644032 ENSG00000228645 OTTHUMG00000156389 NG_005545 12825073 PGOHUM00000233323 HGNC:33917 +HGNC:8932 PHKG1P3 phosphorylase kinase catalytic subunit gamma 1 pseudogene 3 pseudogene pseudogene Approved 11p11.12 11p11.12 PHKg1ps2 PHKGL phosphorylase kinase, gamma-like 1989-05-10 2007-12-18 2016-05-16 2020-04-07 5262 ENSG00000236919 OTTHUMG00000166903 NG_005543 12825073 PGOHUM00000290483 HGNC:8932 +HGNC:33918 PHKG1P4 phosphorylase kinase catalytic subunit gamma 1 pseudogene 4 pseudogene pseudogene Approved 7p11.2 07p11.2 phosphorylase kinase, gamma 1 pseudogene 4 2007-12-18 2016-05-16 2016-05-16 100151641 ENSG00000229508 OTTHUMG00000156681 NG_007655 PGOHUM00000232754 HGNC:33918 +HGNC:8931 PHKG2 phosphorylase kinase catalytic subunit gamma 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 phosphorylase kinase, gamma 2 (testis) 1993-06-18 2016-05-16 2016-05-16 5261 ENSG00000156873 OTTHUMG00000132400 uc059thf.1 "S73483|M31606" NM_000294 "CCDS10690|CCDS54002" P15735 "2915644|8020963" MGI:1916211 RGD:620024 172471 159810 objectId:2147 2.7.11.19 HGNC:8931 "ENST00000563588.6|NM_000294.3" HGNC:8931 +HGNC:8933 PHLDA1 pleckstrin homology like domain family A member 1 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "TDAG51|DT1P1B11|PHRIP" proline-histidine rich protein pleckstrin homology-like domain, family A, member 1 1999-10-19 2016-01-27 2020-04-01 22822 ENSG00000139289 OTTHUMG00000169783 uc058rcr.1 Z50194 NM_007350 CCDS31861 Q8WV24 "12384558|15037619" MGI:1096880 RGD:3836 605335 HGNC:8933 +HGNC:55461 PHLDA1-AS1 PHLDA1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 Antisense RNAs 1987 2021-02-08 2021-02-08 120766149 ENSG00000257453 33475530 +HGNC:55470 PHLDA1-DT PHLDA1 divergent transcript non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 Divergent transcripts 1990 2021-03-10 2021-03-10 120766142 ENSG00000257839 +HGNC:12385 PHLDA2 pleckstrin homology like domain family A member 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "IPL|BWR1C|HLDA2" TSSC3 "tumor suppressing subtransferable candidate 3|pleckstrin homology-like domain, family A, member 2" Pleckstrin homology domain containing 682 1998-06-22 2003-10-01 2016-01-27 2021-04-13 7262 ENSG00000181649 OTTHUMG00000010926 uc001lxa.2 AF035444 NM_003311 CCDS7741 Q53GA4 "9328465|9403053" MGI:1202307 RGD:1304755 LRG_1043|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1043.xml 602131 HGNC:12385 "ENST00000314222.5|NM_003311.4" +HGNC:8934 PHLDA3 pleckstrin homology like domain family A member 3 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 TIH1 pleckstrin homology-like domain, family A, member 2 pleckstrin homology-like domain, family A, member 3 1999-10-19 2016-01-27 2016-10-05 23612 ENSG00000174307 OTTHUMG00000035767 uc001gwq.5 AF151100 NM_012396 CCDS1412 Q9Y5J5 MGI:1351485 RGD:1310502 607054 470876 HGNC:8934 "ENST00000367311.5|NM_012396.5" +HGNC:23697 PHLDB1 pleckstrin homology like domain family B member 1 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "FLJ00141|LL5a|KIAA0638" pleckstrin homology-like domain, family B, member 1 "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2004-01-12 2016-01-27 2016-01-27 23187 ENSG00000019144 OTTHUMG00000166341 uc001ptr.3 NM_015157 "CCDS44750|CCDS8401" Q86UU1 14532993 MGI:2143230 RGD:620878 612834 HGNC:23697 "ENST00000600882.6|NM_001144758.3" +HGNC:29573 PHLDB2 pleckstrin homology like domain family B member 2 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "LL5beta|FLJ21791|LL5b" pleckstrin homology-like domain, family B, member 2 Pleckstrin homology domain containing 682 2004-03-11 2016-01-27 2016-10-05 90102 ENSG00000144824 OTTHUMG00000159282 uc010hqa.3 NM_145753 "CCDS46886|CCDS46885|CCDS2962" Q86SQ0 12376540 MGI:2444981 RGD:1591402 610298 HGNC:29573 "ENST00000431670.7|NM_001134438.2" +HGNC:30499 PHLDB3 pleckstrin homology like domain family B member 3 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ40193 pleckstrin homology-like domain, family B, member 3 Pleckstrin homology domain containing 682 2004-07-12 2016-01-27 2020-04-20 653583 ENSG00000176531 OTTHUMG00000150693 uc002own.5 NM_198850 CCDS12621 Q6NSJ2 MGI:3642959 RGD:1561121 HGNC:30499 "ENST00000292140.10|NM_198850.4" +HGNC:20610 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "KIAA0606|SCOP|PPM3A" protein phosphatase, Mg2+/Mn2+ dependent 3A "PLEKHE1|PHLPP" "pleckstrin homology domain containing, family E (with leucine rich repeats) member 1|PH domain and leucine rich repeat protein phosphatase" "Pleckstrin homology domain containing|Protein phosphatases, Mg2+/Mn2+ dependent" "682|701" 2003-03-05 2009-05-26 2009-05-26 2016-10-05 23239 ENSG00000081913 OTTHUMG00000150629 uc021ule.2 AB011178 NM_194449 CCDS45881 O60346 "10570941|15808505" MGI:2138327 RGD:621308 609396 HGNC:20610 "ENST00000262719.10|NM_194449.4" +HGNC:29149 PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "KIAA0931|PPM3B" protein phosphatase, Mg2+/Mn2+ dependent 3B PHLPPL PH domain and leucine rich repeat protein phosphatase-like "Pleckstrin homology domain containing|Protein phosphatases, Mg2+/Mn2+ dependent|Small nucleolar RNA protein coding host genes" "682|701|1835" 2005-04-07 2009-05-26 2009-05-26 2016-07-18 23035 ENSG00000040199 OTTHUMG00000176867 uc002fax.5 BX647823 NM_015020 "CCDS73910|CCDS32479" Q6ZVD8 17386267 MGI:2444928 RGD:1562857 611066 3.1.3.16 HGNC:29149 "ENST00000568954.5|NM_015020.3" +HGNC:16815 PHOSPHO1 phosphoethanolamine/phosphocholine phosphatase 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "phosphatase, orphan 1|phosphoethanolamine/phosphocholine phosphatase" HAD Asp-based non-protein phosphatases 1045 2001-10-30 2019-07-10 2019-07-10 162466 ENSG00000173868 OTTHUMG00000161305 uc010wlv.2 AJ457189 NM_001143804 "CCDS45726|CCDS11547" Q8TCT1 12464021 MGI:2447348 RGD:1306182 470878 3.1.3.75 HGNC:16815 "ENST00000310544.9|NM_178500.4" +HGNC:28316 PHOSPHO2 phosphatase, orphan 2 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 MGC22679 HAD Asp-based non-protein phosphatases 1045 2004-12-06 2015-08-25 493911 ENSG00000144362 OTTHUMG00000153981 uc021vsh.2 BC022324 NM_001008489 CCDS33319 Q8TCD6 16054448 MGI:1920623 RGD:1359274 HGNC:28316 "ENST00000359744.8|NM_001008489.4" +HGNC:691 PHOX2A paired like homeobox 2A protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "PMX2A|CFEOM2" "ARIX|FEOM2" "aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive|paired-like (aristaless) homeobox 2a|paired like homeobox 2a" PRD class homeoboxes and pseudogenes 521 1995-12-11 2003-02-14 2018-07-16 2021-05-26 401 ENSG00000165462 OTTHUMG00000167899 uc001osh.4 AF022722 NM_005169 CCDS8214 O14813 "8661014|11600883" MGI:106633 RGD:621323 602753 8489 117799 HGNC:691 "ENST00000298231.5|NM_005169.4" HGNC:691 +HGNC:9143 PHOX2B paired like homeobox 2B protein-coding gene gene with protein product Approved 4p13 04p13 NBPhox PMX2B "paired mesoderm homeobox 2b|paired like homeobox 2b" PRD class homeoboxes and pseudogenes 521 1999-01-11 2003-02-14 2018-07-16 2021-05-26 8929 ENSG00000109132 OTTHUMG00000099379 uc003gwf.4 D82344 NM_003924 CCDS3463 Q99453 "9039501|10395798" MGI:1100882 RGD:1560582 LRG_513|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_513.xml PHOX2B 603851 8490 117805 HGNC:9143 "ENST00000226382.4|NM_003924.4" HGNC:9143 +HGNC:40457 PHOX2B-AS1 PHOX2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p13 04p13 Antisense RNAs 1987 2019-09-19 2019-09-19 105374425 ENSG00000250467 OTTHUMG00000160532 XR_001741668 HGNC:40457 +HGNC:30033 PHPT1 phosphohistidine phosphatase 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "PHP14|HSPC141|CGI-202|DKFZp564M173|bA216L13.10" "phosphohistidine phosphatase 14kDa|sex-regulated protein janus-a" Protein phosphatases 703 2004-03-23 2016-10-20 29085 ENSG00000054148 OTTHUMG00000020950 uc004cjq.6 AF131857 NM_014172 "CCDS7009|CCDS48060" Q9NRX4 "11042152|8619474" MGI:1922704 RGD:1311355 610167 3.1.3.- HGNC:30033 "ENST00000247665.12|NM_014172.6" +HGNC:24351 PHRF1 PHD and ring finger domains 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "KIAA1542|PPP1R125" "CTD binding SR like protein rA9|protein phosphatase 1, regulatory subunit 125" RNF221 "Ring finger proteins|PHD finger proteins|Protein phosphatase 1 regulatory subunits" "58|88|694" 2008-08-14 2014-06-13 57661 ENSG00000070047 OTTHUMG00000165141 uc010qwc.4 BC004950 NM_020901 "CCDS65988|CCDS65989|CCDS65987|CCDS44507" Q9P1Y6 MGI:2141847 RGD:708360 611780 HGNC:24351 "ENST00000264555.10|NM_001286581.2" +HGNC:8939 PHTF1 putative homeodomain transcription factor 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 PHTF 1999-03-24 2015-02-16 10745 ENSG00000116793 OTTHUMG00000011800 uc057jno.1 AJ011863 NM_006608 "CCDS861|CCDS81359" Q9UMS5 10395808 MGI:1332671 RGD:620426 604950 HGNC:8939 "ENST00000369604.6|NM_001323043.2" +HGNC:13411 PHTF2 putative homeodomain transcription factor 2 protein-coding gene gene with protein product Approved 7q11.23-q21.11 07q11.23-q21.11 DKFZp434D166 2001-06-25 2018-02-13 57157 ENSG00000006576 OTTHUMG00000155557 uc064ese.1 AL136883 NM_020432 "CCDS47622|CCDS47621|CCDS47623|CCDS47624" Q8N3S3 10729229 MGI:1916020 RGD:1310593 616785 HGNC:13411 +HGNC:8940 PHYH phytanoyl-CoA 2-hydroxylase protein-coding gene gene with protein product Approved 10p13 10p13 "PAHX|RD|PHYH1" "Refsum disease|phytanoyl-CoA dioxygenase" "phytanoyl-CoA hydroxylase (Refsum disease)|phytanoyl-CoA hydroxylase" 1997-10-27 2006-01-09 2015-08-25 5264 ENSG00000107537 OTTHUMG00000017693 uc001imf.4 NM_001037537 "CCDS41489|CCDS7097" O14832 9326939 MGI:891978 RGD:620317 602026 117810 1.14.11.18 HGNC:8940 "ENST00000263038.9|NM_006214.4" HGNC:8940 +HGNC:23396 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 MGC16638 2003-11-14 2019-03-01 254295 ENSG00000175287 OTTHUMG00000020764 uc004bwo.3 BC051300 NM_174933 "CCDS6914|CCDS43886|CCDS43885" Q5SRE7 21530488 MGI:3612860 RGD:1310377 HGNC:23396 "ENST00000372592.8|NM_001100876.2" +HGNC:16865 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "KIAA0273|PAHX-AP" DYRK1AP3 "phytanoyl-CoA hydroxylase interacting protein|DYRK1A interacting protein 3" 2001-11-16 2006-01-09 2016-10-05 9796 ENSG00000168490 OTTHUMG00000163776 uc003xbj.5 D87463 NM_014759 CCDS43723 Q92561 "9039502|10686344" MGI:1860417 RGD:1305790 608511 HGNC:16865 "ENST00000454243.7|NM_014759.5" +HGNC:29378 PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein like protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "KIAA1796|Em:AC025038.1" "phytanoyl-CoA hydroxylase interacting protein-like|phytanoyl-CoA 2-hydroxylase interacting protein-like" Fibronectin type III domain containing 555 2004-04-16 2016-02-01 2016-02-01 84457 ENSG00000165443 OTTHUMG00000018276 uc001jkk.5 AL834339 NM_032439 "CCDS44405|CCDS7254" Q96FC7 11347906 MGI:1918161 RGD:1307967 HGNC:29378 "ENST00000373880.9|NM_032439.4" +HGNC:28249 PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase protein-coding gene gene with protein product Approved 5q35.3 05q35.3 MGC15875 5-phosphonooxy-L-lysine phospho-lyase AGXT2L2 alanine-glyoxylate aminotransferase 2-like 2 2006-08-11 2013-06-12 2013-06-12 2014-11-19 85007 ENSG00000175309 OTTHUMG00000130892 BC037567 NM_032921 CCDS4434 Q8IUZ5 22241472 MGI:1920197 RGD:2293818 614683 4.2.3.134 HGNC:28249 "ENST00000308158.10|NM_153373.4" HGNC:28249 +HGNC:8947 PI3 peptidase inhibitor 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "ESI|SKALP|ELAFIN|WAP3|WFDC14|cementoin" "skin-derived antileukoproteinase|trappin-2" "protease inhibitor 3, skin-derived (SKALP)|peptidase inhibitor 3, skin-derived" WAP four-disulfide core domain containing 361 1993-07-27 2015-12-16 2015-12-16 5266 ENSG00000124102 OTTHUMG00000032567 uc002xng.4 D13156 NM_002638 CCDS13344 P19957 "8287685|12206714" 182257 I17.002 HGNC:8947 "ENST00000243924.4|NM_002638.4" +HGNC:30031 PI4K2A phosphatidylinositol 4-kinase type 2 alpha protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "PI4KII|DKFZP761G1923|PIK42A" 2007-08-02 2016-10-05 55361 ENSG00000155252 OTTHUMG00000018863 uc001kog.2 AF070611 NM_018425 CCDS7469 Q9BTU6 "11244087|11279162" MGI:1934031 RGD:620485 609763 objectId:2498 HGNC:30031 +HGNC:18215 PI4K2B phosphatidylinositol 4-kinase type 2 beta protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "PI4KIIB|FLJ11105|PIK42B" Minor histocompatibility antigens 870 2005-08-31 2016-10-05 55300 ENSG00000038210 OTTHUMG00000128564 uc003grk.3 AK001967 NM_018323 CCDS3433 Q8TCG2 11923287 MGI:1914323 RGD:1359515 612101 objectId:2499 HGNC:18215 "ENST00000264864.8|NM_018323.4" +HGNC:8983 PI4KA phosphatidylinositol 4-kinase alpha protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "PI4K-ALPHA|pi4K230" "phosphatidylinositol 4-kinase IIIα|phosphatidylinositol 4-kinase III alpha" PIK4CA phosphatidylinositol 4-kinase, catalytic, alpha "Armadillo like helical domain containing|PI4KA lipid kinase complex" "1492|1588" 1998-04-07 2007-08-02 2016-02-23 2018-04-18 5297 ENSG00000241973 OTTHUMG00000167440 uc002zsz.5 L36151 NM_058004 CCDS33603 P42356 "7961848|8662589|29229838" MGI:2448506 RGD:621213 600286 434516 objectId:2148 HGNC:8983 "ENST00000255882.11|NM_058004.4" HGNC:8983 +HGNC:33576 PI4KAP1 phosphatidylinositol 4-kinase alpha pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 2007-08-02 2016-02-23 2016-02-23 728233 ENSG00000274602 OTTHUMG00000188354 NR_003563 Q8N8J0 PGOHUM00000297450 HGNC:33576 +HGNC:33577 PI4KAP2 phosphatidylinositol 4-kinase alpha pseudogene 2 pseudogene pseudogene Approved 22q11.21 22q11.21 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 2007-08-02 2016-02-23 2016-02-23 375133 ENSG00000183506 OTTHUMG00000150827 NR_003700 A4QPH2 PGOHUM00000259689 HGNC:33577 +HGNC:8984 PI4KB phosphatidylinositol 4-kinase beta protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PI4K-BETA|pi4K92" PIK4CB phosphatidylinositol 4-kinase, catalytic, beta 1998-04-07 2007-08-02 2016-02-23 2016-10-05 5298 ENSG00000143393 OTTHUMG00000012348 uc001exr.4 AB005910 NM_002651 "CCDS55637|CCDS81376|CCDS993|CCDS55638" Q9UBF8 "9020160|9405938" MGI:1334433 RGD:621214 602758 objectId:2149 HGNC:8984 "ENST00000368873.6|NM_001369623.2" +HGNC:8946 PI15 peptidase inhibitor 15 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 P25TI protease inhibitor 15 CAP superfamily 1356 2000-08-11 2005-08-17 2016-10-05 51050 ENSG00000137558 OTTHUMG00000164528 uc003yal.3 D45027 NM_015886 CCDS6218 O43692 "8882727|9473672" MGI:1934659 RGD:1309577 607076 HGNC:8946 "ENST00000260113.7|NM_015886.5" +HGNC:21245 PI16 peptidase inhibitor 16 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "MGC45378|dJ90K10.5|MSMBBP|CD364" microseminoprotein, beta-binding protein protease inhibitor 16 "CD molecules|CAP superfamily" "471|1356" 2003-05-29 2005-08-17 2016-10-05 221476 ENSG00000164530 OTTHUMG00000014611 uc021yzd.2 NM_153370 CCDS34440 Q6UXB8 MGI:1921366 RGD:1304760 HGNC:21245 "ENST00000373674.4|NM_153370.3" +HGNC:25338 PIANP PILR alpha associated neural protein protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "DKFZp547D2210|PANP" PILR-associating neural protein C12orf53 chromosome 12 open reading frame 53 2006-01-24 2012-08-17 2012-08-17 2012-08-17 196500 ENSG00000139200 OTTHUMG00000168664 uc001qqf.3 BC035736 NM_153685 "CCDS58205|CCDS44818" Q8IYJ0 12975309 MGI:2441908 RGD:1304952 616065 HGNC:25338 "ENST00000534837.6|NM_001244014.2" +HGNC:2752 PIAS1 protein inhibitor of activated STAT 1 protein-coding gene gene with protein product Approved 15q23 15q23 "GBP|GU/RH-II|ZMIZ3" zinc finger, MIZ-type containing 3 DDXBP1 DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1 Zinc fingers MIZ-type 85 1998-11-06 2002-04-19 2015-11-13 2017-09-01 8554 ENSG00000033800 OTTHUMG00000172645 uc002aqz.4 AF077951 NM_001320687 "CCDS45290|CCDS81902" O75925 "9724754|9177271|19526197" MGI:1913125 RGD:1307843 603566 HGNC:2752 "ENST00000249636.11|NM_016166.3" +HGNC:17311 PIAS2 protein inhibitor of activated STAT 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "PIASX-BETA|miz|PIASX-ALPHA|ZMIZ4|ARIP3" zinc finger, MIZ-type containing 4 Zinc fingers MIZ-type 85 2004-06-02 2015-11-13 2017-09-04 9063 ENSG00000078043 OTTHUMG00000179301 uc002lck.4 AF077953 NM_004671 "CCDS32824|CCDS32825" O75928 "9724754|9256341" MGI:1096566 RGD:71056 603567 HGNC:17311 "ENST00000585916.6|NM_004671.5" +HGNC:16861 PIAS3 protein inhibitor of activated STAT 3 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "FLJ14651|ZMIZ5" zinc finger, MIZ-type containing 5 "Zinc fingers MIZ-type|MicroRNA protein coding host genes" "85|1691" 2004-06-02 2015-11-13 2016-10-05 10401 ENSG00000131788 OTTHUMG00000013750 uc001eoc.2 AB021868 NM_006099 CCDS72866 Q9Y6X2 10319586 MGI:1913126 RGD:708413 605987 HGNC:16861 "ENST00000393045.7|NM_006099.3" +HGNC:17002 PIAS4 protein inhibitor of activated STAT 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Piasg|PIASY|FLJ12419|ZMIZ6" zinc finger, MIZ-type containing 6 Zinc fingers MIZ-type 85 2004-06-02 2015-11-13 2019-08-21 51588 ENSG00000105229 OTTHUMG00000181759 uc002lzg.4 AF077952 NM_015897 CCDS12118 Q8N2W9 9724754 MGI:2136940 RGD:1308737 605989 HGNC:17002 "ENST00000262971.3|NM_015897.4" +HGNC:23352 PIBF1 progesterone immunomodulatory binding factor 1 protein-coding gene gene with protein product Approved 13q21.33-q22.1 13q21.33-q22.1 "CEP90|PIBF" progesterone-induced blocking factor 1 C13orf24 chromosome 13 open reading frame 24 2004-04-16 2007-10-17 2007-10-17 2021-03-02 10464 ENSG00000083535 OTTHUMG00000017071 uc001vjc.4 AF330046 NM_006346 CCDS31991 Q8WXW3 11935316 MGI:1261910 RGD:1305077 607532 HGNC:23352 "ENST00000326291.11|NM_006346.4" HGNC:23352 +HGNC:15514 PICALM phosphatidylinositol binding clathrin assembly protein protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "CALM|CLTH" 2001-04-06 2016-10-05 8301 ENSG00000073921 OTTHUMG00000166981 uc001pbm.4 BC048259 NM_007166 "CCDS8272|CCDS55784|CCDS55783|CCDS31653" Q13492 8643484 MGI:2385902 RGD:621054 PICALM 603025 371077 HGNC:15514 "ENST00000393346.8|NM_007166.4" +HGNC:27576 PICART1 p53 inducible cancer associated RNA transcript 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 p53-inducible cancer-associated RNA transcript 1 Long non-coding RNAs with non-systematic symbols 1992 2018-08-01 2018-08-01 284080 ENSG00000246640 OTTHUMG00000161891 NR_038230 "28339031|29940776" HGNC:27576 +HGNC:9394 PICK1 protein interacting with PRKCA 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "dJ1039K5|MGC15204" PRKCABP "protein kinase C, alpha binding protein|protein interacting with PRKCA" "PDZ domain containing|AH domain containing" "1220|1921" 1999-10-19 2006-02-14 2006-02-14 2014-11-19 9463 ENSG00000100151 OTTHUMG00000151159 uc003aus.4 AL049654 NM_012407 CCDS13965 Q9NRD5 "10340301|10591208" MGI:894645 RGD:69437 605926 438982 HGNC:9394 "ENST00000356976.8|NM_012407.4" HGNC:9394 +HGNC:19725 PICSAR P38 inhibited cutaneous squamous cell carcinoma associated lincRNA non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 "PRED74|NLC1-C" narcolepsy candidate region 1 gene C "C21orf113|NCRNA00162|LINC00162" "chromosome 21 open reading frame 113|non-protein coding RNA 162|long intergenic non-protein coding RNA 162" Long non-coding RNAs with non-systematic symbols 1992 2003-10-02 2016-04-28 2016-04-28 2018-09-07 378825 ENSG00000275874 OTTHUMG00000090292 uc032qby.2 BC027456 NR_024089 "16826516|27049681" 617191 PICSAR HGNC:19725 +HGNC:26084 PID1 phosphotyrosine interaction domain containing 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "NYGGF4|FLJ20701" 2007-02-02 2014-11-19 55022 ENSG00000153823 OTTHUMG00000133191 uc002vpu.5 AK096636 NM_017933 "CCDS42830|CCDS2471|CCDS82577|CCDS82578" Q7Z2X4 "17124247|16815647|15221005" MGI:2138391 RGD:1560766 612930 HGNC:26084 "ENST00000392055.8|NM_001100818.2" +HGNC:16491 PIDD1 p53-induced death domain protein 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "MGC16925|DKFZp434D229" "LRDD|PIDD" "leucine-rich repeats and death domain containing|p53-induced death domain protein" 2001-09-04 2014-05-01 2014-05-01 2014-11-18 55367 ENSG00000177595 OTTHUMG00000133306 AF229178 NM_145886 "CCDS44508|CCDS7716" Q9HB75 10825539 MGI:1889507 RGD:1311792 605247 HGNC:16491 "ENST00000347755.10|NM_145886.4" +HGNC:28435 PIERCE1 piercer of microtubule wall 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MGC29761|RbEST47" p53-induced expression 1 in Rb−/− cells C9orf116 chromosome 9 open reading frame 116 2004-03-25 2021-11-26 2021-11-26 2021-11-30 138162 ENSG00000160345 OTTHUMG00000020902 uc004cft.2 BC021261 NM_144654 "CCDS43899|CCDS6989" Q5BN46 "27305836|28749992|34715025" MGI:1916577 RGD:1306233 614502 HGNC:28435 "ENST00000429260.7|NM_001048265.2" +HGNC:44654 PIERCE2 piercer of microtubule wall 2 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 FLJ27352 C15orf65 chromosome 15 open reading frame 65 2013-06-06 2021-11-26 2021-11-26 2021-11-26 145788 ENSG00000261652 OTTHUMG00000172679 NM_001198784 CCDS58363 H3BRN8 34715025 MGI:3648770 RGD:1594626 619669 HGNC:44654 "ENST00000569691.2|NM_001198784.2" +HGNC:28993 PIEZO1 piezo type mechanosensitive ion channel component 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 KIAA0233 FAM38A "family with sequence similarity 38, member A|piezo-type mechanosensitive ion channel component 1" MicroRNA protein coding host genes 1691 2004-04-29 2011-08-31 2016-02-01 2021-05-26 9780 ENSG00000103335 OTTHUMG00000156776 uc010vpb.3 D87071 NM_014745 CCDS54058 Q92508 "20813920|21056836|21299953|21696149" MGI:3603204 RGD:1308822 LRG_1137|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1137.xml 611184 303176 objectId:2945 HGNC:28993 "ENST00000301015.14|NM_001142864.4" HGNC:28993 +HGNC:16214 PIEZO1P1 piezo type mechanosensitive ion channel component 1 pseudogene 1 pseudogene pseudogene Approved 20q13.32 20q13.32 bA164D18.1 "C20orf83|FAM38CP" "chromosome 20 open reading frame 83|family with sequence similarity 38, member C, pseudogene|piezo-type mechanosensitive ion channel component 1 pseudogene 1" 2001-07-17 2011-08-31 2016-02-01 2020-04-20 128615 ENSG00000233686 OTTHUMG00000032868 AL389889 NG_011695 PGOHUM00000247569 HGNC:16214 +HGNC:42861 PIEZO1P2 piezo type mechanosensitive ion channel component 1 pseudogene 2 pseudogene pseudogene Approved 20q13.32 20q13.32 piezo-type mechanosensitive ion channel component 1 pseudogene 2 2011-08-31 2016-02-01 2016-11-08 100874493 ENSG00000237121 OTTHUMG00000032850 NG_032531 PGOHUM00000297028 HGNC:42861 +HGNC:26270 PIEZO2 piezo type mechanosensitive ion channel component 2 protein-coding gene gene with protein product Approved 18p11.22-p11.21 18p11.22-p11.21 "FLJ23403|FLJ23144|HsT748|HsT771|FLJ34907" "FAM38B2|C18orf30|C18orf58|FAM38B" "chromosome 18 open reading frame 30|chromosome 18 open reading frame 58|family with sequence similarity 38, member B|piezo-type mechanosensitive ion channel component 2" "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2004-04-29 2011-08-31 2016-02-01 2021-05-26 63895 ENSG00000154864 OTTHUMG00000178507 uc002kos.3 AK027056 NM_022068 CCDS11850 Q9H5I5 "20813920|21056836|21299953" MGI:1918781 RGD:1582973 613629 332055 objectId:2946 HGNC:26270 "ENST00000674853.1|NM_001378183.1" HGNC:26270 +HGNC:26220 PIF1 PIF1 5'-to-3' DNA helicase protein-coding gene gene with protein product Approved 15q22.31 15q22.31 FLJ22692 C15orf20 "chromosome 15 open reading frame 20|PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)" DNA helicases 1167 2004-02-23 2006-11-24 2013-05-13 2016-10-05 80119 ENSG00000140451 OTTHUMG00000132974 uc002ant.4 AK026345 NM_025049 "CCDS66797|CCDS10195" Q9H611 "10926538|16522649" MGI:2143057 RGD:1586053 610953 470880 3.6.4.12 HGNC:26220 "ENST00000559239.2|NM_001286496.2" +HGNC:27009 PIFO primary cilia formation protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ23853|pitchfork" C1orf88 chromosome 1 open reading frame 88 2005-05-27 2012-10-10 2012-10-10 2014-11-19 128344 ENSG00000173947 OTTHUMG00000011168 uc001eaw.3 BC050319 NM_181643 "CCDS833|CCDS72836" Q8TCI5 20643351 MGI:1923670 RGD:1586282 614234 HGNC:27009 "ENST00000369738.9|NM_181643.6" +HGNC:8957 PIGA phosphatidylinositol glycan anchor biosynthesis class A protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 GPI3 "paroxysmal nocturnal hemoglobinuria|phosphatidylinositol N-acetylglucosaminyltransferase" phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria) "Glycosyl transferases group 1 domain containing|Phosphatidylinositol glycan anchor biosynthesis" "427|680" 1993-10-28 2015-11-06 2021-04-13 5277 ENSG00000165195 OTTHUMG00000021174 uc004cwr.5 BC038236 NM_002641 "CCDS14165|CCDS48086" P37287 8500164 MGI:99461 RGD:1589723 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PIGA|LRG_160|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_160.xml" 311770 231527 2.4.1.198 HGNC:8957 "ENST00000333590.6|NM_002641.4" HGNC:8957 +HGNC:8958 PIGAP1 phosphatidylinositol glycan anchor biosynthesis class A pseudogene 1 pseudogene pseudogene Approved 12q23.1 12q23.1 1994-12-13 2015-11-06 2020-04-07 5278 ENSG00000257803 OTTHUMG00000170440 X77457 NG_001174 8081362 PGOHUM00000291781 HGNC:8958 +HGNC:8959 PIGB phosphatidylinositol glycan anchor biosynthesis class B protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "GPI mannosyltransferase 3|dol-P-Man dependent GPI mannosyltransferase" phosphatidylinositol glycan, class B "Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis" "430|680" 1999-04-15 2015-11-06 2015-11-06 9488 ENSG00000069943 OTTHUMG00000172654 uc002act.4 D42138 NM_004855 CCDS61641 Q92521 8861954 MGI:1891825 RGD:1307251 604122 HGNC:8959 "ENST00000164305.10|NM_004855.5" HGNC:8959 +HGNC:50696 PIGBOS1 PIGB opposite strand 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 2014-06-09 2015-05-11 101928527 ENSG00000225973 OTTHUMG00000172653 NM_001308421 CCDS81884 A0A0B4J2F0 RGD:6502569 618809 HGNC:50696 "ENST00000436697.3|NM_001308421.2" +HGNC:8960 PIGC phosphatidylinositol glycan anchor biosynthesis class C protein-coding gene gene with protein product Approved 1q24.3 01q24.3 phosphatidylinositol N-acetylglucosaminyltransferase phosphatidylinositol glycan, class C Phosphatidylinositol glycan anchor biosynthesis 680 1997-04-16 2015-11-06 2016-10-05 5279 ENSG00000135845 OTTHUMG00000034751 uc021pey.2 BC006539 NM_153747 CCDS1302 Q92535 "8806613|9325057" MGI:1914542 RGD:1311337 601730 2.4.1.198 HGNC:8960 "ENST00000344529.5|NM_153747.2" HGNC:8960 +HGNC:8961 PIGCP1 phosphatidylinositol glycan anchor biosynthesis class C pseudogene 1 pseudogene pseudogene Approved 11p13 11p13 1997-04-16 2015-11-06 2015-11-06 5280 ENSG00000213713 NG_001175 9325057 PGOHUM00000242204 HGNC:8961 +HGNC:45149 PIGCP2 phosphatidylinositol glycan anchor biosynthesis class C pseudogene 2 pseudogene pseudogene Approved 7q31.1 07q31.1 2013-02-25 2015-11-06 2015-11-06 100128307 ENSG00000229626 OTTHUMG00000154814 NG_022571 PGOHUM00000233522 HGNC:45149 +HGNC:8962 PIGF phosphatidylinositol glycan anchor biosynthesis class F protein-coding gene gene with protein product Approved 2p21 02p21 phosphatidylinositol glycan, class F Phosphatidylinositol glycan anchor biosynthesis 680 1993-10-28 2015-11-06 2016-10-05 5281 ENSG00000151665 OTTHUMG00000128816 uc002rvd.4 NM_173074 "CCDS1828|CCDS1827" Q07326 "8575782|8463218" MGI:99462 RGD:1584658 600153 HGNC:8962 "ENST00000281382.11|NM_002643.4" +HGNC:8963 PIGFP1 phosphatidylinositol glycan anchor biosynthesis class F pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 1996-12-20 2015-11-06 2016-10-05 5282 ENSG00000253869 OTTHUMG00000163582 D49727 NG_001176 8575782 PGOHUM00000235862 HGNC:8963 +HGNC:45150 PIGFP2 phosphatidylinositol glycan anchor biosynthesis class F pseudogene 2 pseudogene pseudogene Approved 9q33.3 09q33.3 2013-02-25 2015-11-06 2015-11-06 100422349 ENSG00000234881 OTTHUMG00000020642 NG_023955 PGOHUM00000236769 HGNC:45150 +HGNC:45151 PIGFP3 phosphatidylinositol glycan anchor biosynthesis class F pseudogene 3 pseudogene pseudogene Approved Xp21.2 Xp21.2 2013-02-25 2015-11-06 2015-11-06 100129049 ENSG00000227592 OTTHUMG00000021318 NG_022588 PGOHUM00000241225 HGNC:45151 +HGNC:25985 PIGG phosphatidylinositol glycan anchor biosynthesis class G protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ20265|GPI7|LAS21" GPI ethanolamine phosphate transferase 2 phosphatidylinositol glycan, class G Phosphatidylinositol glycan anchor biosynthesis 680 2006-02-08 2015-11-06 2018-07-16 54872 ENSG00000174227 OTTHUMG00000112457 uc003gaj.6 NM_017733 "CCDS75082|CCDS46992|CCDS75080|CCDS75081|CCDS3336|CCDS75083" Q5H8A4 15632136 MGI:3576484 RGD:1560335 616918 HGNC:25985 "ENST00000453061.7|NM_001127178.3" HGNC:25985 +HGNC:8964 PIGH phosphatidylinositol glycan anchor biosynthesis class H protein-coding gene gene with protein product Approved 14q24.1 14q24.1 GPI-H phosphatidylinositol N-acetylglucosaminyltransferase subunit phosphatidylinositol glycan, class H Phosphatidylinositol glycan anchor biosynthesis 680 1994-09-06 2015-11-06 2015-11-06 5283 ENSG00000100564 OTTHUMG00000171806 uc001xjr.2 NM_004569 "CCDS9784|CCDS86403" Q14442 8204896 MGI:99463 RGD:1311438 600154 2.4.1.198 HGNC:8964 "ENST00000216452.9|NM_004569.5" HGNC:8964 +HGNC:45152 PIGHP1 phosphatidylinositol glycan anchor biosynthesis class H pseudogene 1 pseudogene pseudogene Approved 15q22.2 15q22.2 2013-02-25 2015-11-06 2015-11-06 644761 ENSG00000259657 OTTHUMG00000171924 NG_022130 PGOHUM00000247136 HGNC:45152 +HGNC:8965 PIGK phosphatidylinositol glycan anchor biosynthesis class K protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "hGPI8|GPI8" GPI transamidase subunit phosphatidylinositol glycan, class K "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol transamidase complex" "680|1951" 1999-05-17 2015-11-06 2015-11-06 10026 ENSG00000142892 OTTHUMG00000009686 uc001dhk.4 AF022913 NM_005482 CCDS674 Q92643 9356492 MGI:1913863 RGD:1306753 605087 HGNC:8965 "ENST00000370812.8|NM_005482.3" HGNC:8965 +HGNC:8966 PIGL phosphatidylinositol glycan anchor biosynthesis class L protein-coding gene gene with protein product Approved 17p11.2 17p11.2 N-acetylglucosaminylphosphatidylinositol deacetylase phosphatidylinositol glycan, class L "Phosphatidylinositol glycan anchor biosynthesis|MicroRNA protein coding host genes" "680|1691" 1999-04-15 2015-11-06 2015-11-06 9487 ENSG00000108474 OTTHUMG00000059346 uc002gpv.4 AB017165 NM_004278 CCDS11176 Q9Y2B2 10085243 MGI:2681271 RGD:620437 605947 299636 3.5.1.89 HGNC:8966 "ENST00000225609.10|NM_004278.4" HGNC:8966 +HGNC:18858 PIGM phosphatidylinositol glycan anchor biosynthesis class M protein-coding gene gene with protein product Approved 1q23.2 01q23.2 GPI-MT-I "GPI mannosyltransferase 1|DPM:GlcN-(acyl-)PI mannosyltransferase|dol-P-Man dependent GPI mannosyltransferase" phosphatidylinositol glycan, class M "Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis" "430|680" 2002-07-05 2015-11-06 2015-11-06 93183 ENSG00000143315 OTTHUMG00000024081 uc001fuv.2 AB028127 NM_145167 CCDS1192 Q9H3S5 11226175 MGI:1914806 RGD:71041 610273 117818 HGNC:18858 "ENST00000368090.5|NM_145167.3" HGNC:18858 +HGNC:8967 PIGN phosphatidylinositol glycan anchor biosynthesis class N protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "MCD4|PIG-N" phosphatidylinositol glycan, class N Phosphatidylinositol glycan anchor biosynthesis 680 2000-05-11 2015-11-06 2018-10-25 23556 ENSG00000197563 OTTHUMG00000180098 uc021ulb.3 AF109219 NM_176787 CCDS45879 O95427 "10069808|10574991" MGI:1351629 RGD:1311346 606097 280636 HGNC:8967 "ENST00000640252.2|NM_176787.5" HGNC:8967 +HGNC:23215 PIGO phosphatidylinositol glycan anchor biosynthesis class O protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "DKFZp434M222|FLJ00135" phosphatidylinositol glycan, class O Phosphatidylinositol glycan anchor biosynthesis 680 2003-10-14 2015-11-06 2016-10-05 84720 ENSG00000165282 OTTHUMG00000019854 uc003zwf.4 AB083625 NM_032634 "CCDS6575|CCDS6576" Q8TEQ8 10781593 MGI:1861452 RGD:1309498 614730 304648 HGNC:23215 "ENST00000378617.4|NM_032634.4" HGNC:23215 +HGNC:55692 PIGO-AS1 PIGO antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p13.3 09p13.3 Antisense RNAs 1987 2021-07-05 2021-07-05 121847984 ENSG00000234181 +HGNC:3046 PIGP phosphatidylinositol glycan anchor biosynthesis class P protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "DCRC|DSRC" phosphatidylinositol-n-acetylglucosaminyltranferase subunit DSCR5 "Down syndrome critical region gene 5|phosphatidylinositol glycan, class P" Phosphatidylinositol glycan anchor biosynthesis 680 2000-05-25 2005-11-10 2015-11-06 2016-10-05 51227 ENSG00000185808 OTTHUMG00000086653 uc002yvx.2 AB037162 NM_153681 "CCDS82670|CCDS13649|CCDS13650" P57054 "10814524|15221505" MGI:1860433 RGD:1307205 605938 2.4.1.198 HGNC:3046 "ENST00000360525.9|NM_153682.3" HGNC:3046 +HGNC:45153 PIGPP1 phosphatidylinositol glycan anchor biosynthesis class P pseudogene 1 pseudogene pseudogene Approved 2p15 02p15 2013-02-25 2015-11-06 2015-11-06 112214169 NG_066003 PGOHUM00000240662 HGNC:45153 +HGNC:45154 PIGPP2 phosphatidylinositol glycan anchor biosynthesis class P pseudogene 2 pseudogene pseudogene Approved 1p31.3 01p31.3 2013-02-25 2015-11-06 2015-11-06 106479056 ENSG00000234204 OTTHUMG00000008913 NG_044547 PGOHUM00000244740 HGNC:45154 +HGNC:45155 PIGPP3 phosphatidylinositol glycan anchor biosynthesis class P pseudogene 3 pseudogene pseudogene Approved 20q11.22 20q11.22 2013-02-25 2015-11-06 2015-11-06 100128033 ENSG00000228958 OTTHUMG00000032280 NG_030237 PGOHUM00000247644 HGNC:45155 +HGNC:45156 PIGPP4 phosphatidylinositol glycan anchor biosynthesis class P pseudogene 4 pseudogene pseudogene Approved 18p11.22 18p11.22 2013-02-25 2015-11-06 2015-11-06 106480811 ENSG00000265564 OTTHUMG00000178598 NG_044250 PGOHUM00000234852 HGNC:45156 +HGNC:14135 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "hGPI1|GPI1" phosphatidylinositol glycan, class Q Phosphatidylinositol glycan anchor biosynthesis 680 2000-12-21 2015-11-06 2015-11-06 9091 ENSG00000007541 OTTHUMG00000168047 uc002cho.4 AB003723 NM_004204 "CCDS10412|CCDS10411" Q9BRB3 "9463366|9729469" MGI:1333114 RGD:1359535 605754 404743 HGNC:14135 "ENST00000321878.10|NM_004204.5" HGNC:14135 +HGNC:45157 PIGQP1 phosphatidylinositol glycan anchor biosynthesis class Q pseudogene 1 pseudogene pseudogene Approved 1p32.2 01p32.2 2013-02-25 2015-11-06 2016-11-08 106480812 ENSG00000227104 OTTHUMG00000129005 NG_044258 PGOHUM00000244039 HGNC:45157 +HGNC:8968 PIGR polymeric immunoglobulin receptor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 V-set domain containing 590 1989-06-06 2016-10-05 5284 ENSG00000162896 OTTHUMG00000036581 uc001hez.4 NM_002644 CCDS1474 P01833 MGI:103080 RGD:3328 173880 HGNC:8968 "ENST00000356495.5|NM_002644.4" +HGNC:14937 PIGS phosphatidylinositol glycan anchor biosynthesis class S protein-coding gene gene with protein product Approved 17q11.2 17q11.2 GPI transamidase subunit phosphatidylinositol glycan, class S "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol transamidase complex" "680|1951" 2001-03-27 2015-11-06 2016-10-05 94005 ENSG00000087111 OTTHUMG00000132604 uc002hbo.3 NM_033198 CCDS11235 Q96S52 MGI:2687325 RGD:1359436 610271 HGNC:14937 "ENST00000308360.8|NM_033198.4" HGNC:14937 +HGNC:14938 PIGT phosphatidylinositol glycan anchor biosynthesis class T protein-coding gene gene with protein product Approved 20q13.12 20q13.12 GPI transamidase subunit phosphatidylinositol glycan, class T "Phosphatidylinositol glycan anchor biosynthesis|MicroRNA protein coding host genes|Glycosylphosphatidylinositol transamidase complex" "680|1691|1951" 2001-03-27 2015-11-06 2015-11-06 51604 ENSG00000124155 OTTHUMG00000032574 uc002xoh.4 NM_015937 "CCDS13353|CCDS54466|CCDS54464|CCDS54465" Q969N2 15713669 MGI:1926178 RGD:1307156 610272 371358 HGNC:14938 "ENST00000279036.12|NM_015937.6" HGNC:14938 +HGNC:15791 PIGU phosphatidylinositol glycan anchor biosynthesis class U protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "bA346K17.2|GAB1" GPI transamidase subunit CDC91L1 "CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1|CDC91 cell division cycle 91-like 1 (S. cerevisiae)" "Phosphatidylinositol glycan anchor biosynthesis|Glycosylphosphatidylinositol transamidase complex" "680|1951" 2001-09-17 2006-11-07 2015-11-06 2015-11-06 128869 ENSG00000101464 OTTHUMG00000032304 uc002xas.4 AL118520 NM_080476 CCDS13239 Q9H490 "12802054|15034568" MGI:3039607 RGD:727825 608528 HGNC:15791 "ENST00000217446.8|NM_080476.5" HGNC:15791 +HGNC:45158 PIGUP1 phosphatidylinositol glycan anchor biosynthesis class U pseudogene 1 pseudogene pseudogene Approved 9q21.12 09q21.12 2013-02-25 2015-11-06 2015-11-06 100422342 ENSG00000224437 OTTHUMG00000019996 NG_023833 PGOHUM00000236205 HGNC:45158 +HGNC:26031 PIGV phosphatidylinositol glycan anchor biosynthesis class V protein-coding gene gene with protein product Approved 1p36.11 01p36.11 FLJ20477 "GPI mannosyltransferase 2|dol-P-Man dependent GPI mannosyltransferase" phosphatidylinositol glycan, class V "Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis" "430|680" 2005-01-10 2015-11-06 2015-11-06 55650 ENSG00000060642 OTTHUMG00000004005 uc001bmz.4 AK000484 NM_017837 CCDS287 Q9NUD9 15623507 MGI:2442480 RGD:1309526 610274 251503 HGNC:26031 "ENST00000674202.1|NM_017837.4" HGNC:26031 +HGNC:23213 PIGW phosphatidylinositol glycan anchor biosynthesis class W protein-coding gene gene with protein product Approved 17q12 17q12 "Gwt1|FLJ37433" phosphatidylinositol glycan, class W Phosphatidylinositol glycan anchor biosynthesis 680 2003-10-14 2015-11-06 2016-10-05 284098 ENSG00000277161 OTTHUMG00000188438 uc284orh.1 AB097818 NM_178517 CCDS11313 Q7Z7B1 "14517336|12714589" MGI:1917575 RGD:727962 610275 400438 HGNC:23213 "ENST00000614443.2|NM_001346754.2" HGNC:23213 +HGNC:26046 PIGX phosphatidylinositol glycan anchor biosynthesis class X protein-coding gene gene with protein product Approved 3q29 03q29 FLJ20522 phosphatidylinositol glycan, class X Phosphatidylinositol glycan anchor biosynthesis 680 2005-01-10 2015-11-06 2016-04-25 54965 ENSG00000163964 OTTHUMG00000155535 uc003fwx.6 AK000529 NM_017861 "CCDS54701|CCDS3320" Q8TBF5 15635094 MGI:1919334 RGD:1307289 610276 HGNC:26046 "ENST00000392391.9|NM_017861.4" +HGNC:28213 PIGY phosphatidylinositol glycan anchor biosynthesis class Y protein-coding gene gene with protein product Approved 4q22.1 04q22.1 MGC14156 phosphatidylinositol glycan, class Y Phosphatidylinositol glycan anchor biosynthesis 680 2006-01-31 2015-11-06 2020-09-17 84992 ENSG00000255072 OTTHUMG00000166563 uc062ydg.1 AB206972 NM_001042616 CCDS54778 Q3MUY2 16162815 "MGI:1913518|MGI:1913709" RGD:2318067 610662 449642 HGNC:28213 "ENST00000527353.2|NM_001042616.3" HGNC:28213 +HGNC:54080 PIGY-DT PIGY divergent transcript non-coding RNA RNA, long non-coding Approved 4q22.1 04q22.1 Divergent transcripts 1990 2018-09-28 2018-09-28 101929134 ENSG00000285122 NR_134662 HGNC:54080 +HGNC:30596 PIGZ phosphatidylinositol glycan anchor biosynthesis class Z protein-coding gene gene with protein product Approved 3q29 03q29 "FLJ12768|MGC52163|SMP3" "GPI mannosyltransferase 4|dol-P-Man dependent GPI mannosyltransferase" phosphatidylinositol glycan, class Z "Dolichyl D-mannosyl phosphate dependent mannosyltransferases|Phosphatidylinositol glycan anchor biosynthesis" "430|680" 2006-01-09 2015-11-06 2015-11-06 80235 ENSG00000119227 OTTHUMG00000155522 uc003fxh.5 BC018804 NM_025163 CCDS3324 Q86VD9 15208306 MGI:2443822 RGD:1307107 611671 HGNC:30596 "ENST00000412723.6|NM_025163.4" +HGNC:26075 PIH1D1 PIH1 domain containing 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ20643|Pih1|MOT48|DNAAF14" dynein axonemal assembly factor 14 NOP17 "R2TP complex|Axonemal dynein assembly factors" "1401|1627" 2006-03-30 2007-01-31 2007-01-31 2021-11-26 55011 ENSG00000104872 OTTHUMG00000183167 uc061bcw.1 AK000650 NM_017916 CCDS12765 Q9NWS0 21078300 MGI:1916095 RGD:1309809 611480 HGNC:26075 "ENST00000262265.10|NM_017916.3" +HGNC:25210 PIH1D2 PIH1 domain containing 2 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 DNAAF15 dynein axonemal assembly factor 15 "Axonemal dynein assembly factors|R2SP complex" "1627|2007" 2007-01-31 2021-11-26 120379 ENSG00000150773 OTTHUMG00000166925 uc001pmp.5 BC019238 NM_138789 "CCDS44730|CCDS8355" Q8WWB5 29844425 MGI:1919864 RGD:1310503 HGNC:25210 "ENST00000280350.10|NM_138789.4" +HGNC:30034 PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "BCAP|FLJ35564" 2004-04-21 2016-10-05 118788 ENSG00000155629 OTTHUMG00000018838 uc001kmq.4 AK092883 NM_152309 CCDS31259 Q6ZUJ8 "1251844|11163197" MGI:1933177 RGD:1307744 607942 470882 HGNC:30034 "ENST00000339364.10|NM_152309.3" +HGNC:8971 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha protein-coding gene gene with protein product Approved 11p15.1 11p15.1 PI3K-C2alpha "phosphoinositide-3-kinase, class 2, alpha polypeptide|phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha" Phosphatidylinositol 3-kinase subunits 831 1998-05-21 2015-11-17 2016-10-05 5286 ENSG00000011405 OTTHUMG00000166036 uc001mmq.6 Y13367 NM_002645 CCDS7824 O00443 9337861 MGI:1203729 RGD:1310389 603601 objectId:2150 2.7.1.154 HGNC:8971 "ENST00000691414.1|NM_002645.4" HGNC:8971 +HGNC:8972 PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "C2-PI3K|PI3K-C2beta" "phosphoinositide-3-kinase, class 2, beta polypeptide|phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta" Phosphatidylinositol 3-kinase subunits 831 1998-05-21 2015-11-17 2016-10-05 5287 ENSG00000133056 OTTHUMG00000036101 uc001haw.4 Y11312 NM_002646 CCDS1446 O00750 "9144573|9830063" MGI:2685045 RGD:1306541 602838 objectId:2151 2.7.1.154 HGNC:8972 "ENST00000684373.1|NM_001377334.1" +HGNC:8973 PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "phosphoinositide-3-kinase, class 2, gamma polypeptide|phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma" Phosphatidylinositol 3-kinase subunits 831 1998-05-21 2015-11-17 2016-10-05 5288 ENSG00000139144 OTTHUMG00000168841 uc001rdt.4 AJ000008 NM_004570 "CCDS73452|CCDS44839" O75747 9878262 MGI:1203730 RGD:620231 609001 objectId:2288 2.7.1.154 HGNC:8973 "ENST00000538779.6|NM_001288772.2" +HGNC:8974 PIK3C3 phosphatidylinositol 3-kinase catalytic subunit type 3 protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "Vps34|hVps34" vacuolar protein sorting 34 homolog "phosphoinositide-3-kinase, class 3|phosphatidylinositol 3-kinase, catalytic subunit type 3" "Phosphatidylinositol 3-kinase subunits|PIK3C3 complex subunits" "831|1596" 1998-05-21 2015-11-17 2022-04-05 5289 ENSG00000078142 OTTHUMG00000132593 uc002lap.4 Z46973 NM_002647 "CCDS11920|CCDS77180" Q8NEB9 "7628435|26565689" MGI:2445019 RGD:620899 602609 objectId:2152 2.7.1.137 HGNC:8974 "ENST00000262039.9|NM_002647.4" +HGNC:8975 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha protein-coding gene gene with protein product Approved 3q26.32 03q26.32 PI3K "phosphoinositide-3-kinase, catalytic, alpha polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha" Phosphatidylinositol 3-kinase subunits 831 1994-07-15 2015-11-17 2021-05-26 5290 ENSG00000121879 OTTHUMG00000157311 uc003fjk.4 NM_006218 CCDS43171 P42336 1322797 MGI:1206581 RGD:620916 LRG_310|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_310.xml PIK3CA 171834 117820 objectId:2153 2.7.1.153 HGNC:8975 "ENST00000263967.4|NM_006218.4" HGNC:8975 +HGNC:52932 PIK3CA-DT PIK3CA divergent transcript non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 Divergent transcripts 1990 2021-07-28 2021-07-28 101928739 ENSG00000229102 OTTHUMG00000157310 NR_125401 +HGNC:8976 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta protein-coding gene gene with protein product Approved 3q22.3 03q22.3 PIK3C1 "phosphoinositide-3-kinase, catalytic, beta polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta" Phosphatidylinositol 3-kinase subunits 831 1992-12-18 2015-11-17 2015-11-17 5291 ENSG00000051382 OTTHUMG00000159893 uc062ohd.1 NM_001256045 CCDS3104 P42338 8246984 MGI:1922019 RGD:620917 PIK3CB 602925 objectId:2154 2.7.1.153 HGNC:8976 "ENST00000674063.1|NM_006219.3" +HGNC:8977 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta protein-coding gene gene with protein product Approved 1p36.22 01p36.22 p110D "phosphatidylinositol 3-kinase, catalytic, delta polypeptide|phosphoinositide-3-kinase C" "phosphoinositide-3-kinase, catalytic, delta polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta" Phosphatidylinositol 3-kinase subunits 831 1997-06-12 2015-11-17 2021-05-26 5293 ENSG00000171608 OTTHUMG00000001450 uc001aqb.5 NM_005026 CCDS104 O00329 "9113989|9455486" MGI:1098211 RGD:1310990 LRG_191|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_191.xml 602839 400623 objectId:2155 2.7.1.153 HGNC:8977 "ENST00000377346.9|NM_005026.5" HGNC:8977 +HGNC:32346 PIK3CD-AS1 PIK3CD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 C1orf200 chromosome 1 open reading frame 200 Antisense RNAs 1987 2007-08-02 2014-10-08 2014-10-08 2014-11-19 644997 ENSG00000179840 OTTHUMG00000001452 BC016063 NR_027045 Q5SR53 PIK3CD-AS1 HGNC:32346 +HGNC:51334 PIK3CD-AS2 PIK3CD antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p36.22 01p36.22 Antisense RNAs 1987 2014-10-08 2014-10-08 101929074 ENSG00000231789 OTTHUMG00000001449 "AL523099|BI763597|BP394863" NR_126366 PIK3CD-AS2 HGNC:51334 +HGNC:52629 PIK3CDP1 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta pseudogene 1 pseudogene pseudogene Approved 2p25.2 02p25.2 2016-11-16 2016-11-16 391349 ENSG00000231610 OTTHUMG00000151459 NG_021492 PGOHUM00000297790 HGNC:52629 +HGNC:8978 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "phosphoinositide-3-kinase, catalytic, gamma polypeptide|phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma" Phosphatidylinositol 3-kinase subunits 831 1994-07-15 2015-11-17 2016-10-05 5294 ENSG00000105851 OTTHUMG00000157641 uc003vdu.5 NM_001282426 CCDS5739 P48736 MGI:1353576 RGD:1306468 601232 objectId:2156 2.7.1.153 HGNC:8978 "ENST00000496166.6|NM_001282426.2" +HGNC:24942 PIK3IP1 phosphoinositide-3-kinase interacting protein 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "HGFL|MGC17330|TrIP" transmembrane inhibitor of PI3K 2007-04-13 2019-03-01 113791 ENSG00000100100 OTTHUMG00000151256 uc003akm.4 BC011049 NM_052880 "CCDS13893|CCDS46690" Q96FE7 17475214 MGI:1917016 RGD:1311203 619158 HGNC:24942 "ENST00000215912.10|NM_052880.5" +HGNC:41072 PIK3IP1-DT PIK3IP1 divergent transcript non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 PIK3IP1-AS1 PIK3IP1 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-08-08 2020-01-15 2020-01-15 2020-01-15 101929760 ENSG00000228839 OTTHUMG00000151249 BF439736 NR_110542 PIK3IP1-AS1 HGNC:41072 +HGNC:8979 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 protein-coding gene gene with protein product Approved 5q13.1 05q13.1 "GRB1|p85-ALPHA|p85" phosphoinositide-3-kinase regulatory subunit alpha phosphoinositide-3-kinase, regulatory subunit 1 (alpha) SH2 domain containing 741 1992-12-08 2015-11-17 2021-04-13 5295 ENSG00000145675 OTTHUMG00000131251 uc003jva.4 M61906 NM_181504 "CCDS3993|CCDS3994|CCDS56374|CCDS3995" P27986 "1314371|18387942" MGI:97583 RGD:3329 "SH2base: Database for pathogenic SH2 domain mutations|http://structure.bmc.lu.se/idbase/SH2base/|LRG_453|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_453.xml" PIK3R1 171833 352217 objectId:2503 HGNC:8979 "ENST00000521381.6|NM_181523.3" HGNC:8979 +HGNC:8980 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "P85B|p85" phosphoinositide-3-kinase regulatory subunit beta phosphoinositide-3-kinase, regulatory subunit 2 (beta) SH2 domain containing 741 1992-12-08 2015-11-17 2021-04-13 5296 ENSG00000105647 OTTHUMG00000183383 uc002nia.3 NM_005027 CCDS12371 O00459 1314371 MGI:1098772 RGD:68341 LRG_1392|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1392.xml 603157 306122 objectId:2504 HGNC:8980 "ENST00000222254.13|NM_005027.4" HGNC:8980 +HGNC:8981 PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 p55 phosphoinositide-3-kinase regulatory subunit gamma phosphoinositide-3-kinase, regulatory subunit 3 (gamma) SH2 domain containing 741 1998-10-12 2015-11-17 2015-11-17 8503 ENSG00000117461 OTTHUMG00000008096 uc001cpc.5 BC021622 NM_003629 "CCDS529|CCDS76154" Q92569 9524259 MGI:109277 RGD:621042 606076 objectId:2505 HGNC:8981 "ENST00000262741.10|NM_003629.4" +HGNC:8982 PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "VPS15|p150" phosphoinositide-3-kinase, regulatory subunit 4 "WD repeat domain containing|Armadillo like helical domain containing|PIK3C3 complex subunits" "362|1492|1596" 2000-04-11 2015-11-17 2015-11-17 30849 ENSG00000196455 OTTHUMG00000159645 uc003enj.4 Y08991 NM_014602 CCDS3067 Q99570 8999962 MGI:1922919 RGD:1311809 602610 objectId:2157 HGNC:8982 "ENST00000356763.8|NM_014602.3" +HGNC:30035 PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "P101-PI3K|p101" phosphoinositide-3-kinase, regulatory subunit 5 2004-10-13 2015-11-17 2015-11-17 23533 ENSG00000141506 OTTHUMG00000108197 uc010vuz.3 AF128881 NM_014308 "CCDS73986|CCDS11147" Q8WYR1 12507995 MGI:2443588 RGD:1563261 611317 300201 objectId:2506 HGNC:30035 "ENST00000447110.6|NM_001142633.3" HGNC:30035 +HGNC:55321 PIK3R5-DT PIK3R5 divergent transcript non-coding RNA RNA, long non-coding Approved 17p13.1 17p13.1 Divergent transcripts 1990 2020-10-21 2020-10-21 101928235 ENSG00000266389 XR_243587 +HGNC:27101 PIK3R6 phosphoinositide-3-kinase regulatory subunit 6 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ34500|HsT41028|p87PIKAP" C17orf38 "chromosome 17 open reading frame 38|phosphoinositide-3-kinase, regulatory subunit 6" 2004-02-23 2008-02-04 2015-11-17 2015-11-17 146850 ENSG00000276231 OTTHUMG00000132861 uc032etf.1 AK091819 NM_001010855 CCDS73985 Q5UE93 16476736 MGI:2144613 RGD:1560850 611462 objectId:2507 HGNC:27101 "ENST00000619866.5|NM_001010855.4" +HGNC:23785 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing protein-coding gene gene with protein product Approved 2q34 02q34 "MGC40423|KIAA0981|PIP5K|p235|ZFYVE29|FAB1" zinc finger, FYVE domain containing 29 PIP5K3 "phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III|phosphoinositide kinase, FYVE finger containing" Zinc fingers FYVE-type 81 2003-12-12 2009-04-17 2016-02-15 2021-05-26 200576 ENSG00000115020 OTTHUMG00000132945 uc002vcz.3 AB023198 NM_015040 "CCDS2382|CCDS54431|CCDS33368" Q9Y2I7 "9858586|12270933" MGI:1335106 RGD:1592067 609414 117825 objectId:2857 HGNC:23785 "ENST00000264380.9|NM_015040.4" HGNC:23785 +HGNC:20396 PILRA paired immunoglobin like type 2 receptor alpha protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FDF03 paired immunoglobin-like type 2 receptor alpha V-set domain containing 590 2003-09-10 2016-03-15 2016-03-15 29992 ENSG00000085514 OTTHUMG00000155248 uc003uuo.1 AF161080 NM_013439 "CCDS5692|CCDS5691|CCDS47660" Q9UKJ1 10660620 MGI:2450529 RGD:1583278 605341 HGNC:20396 "ENST00000198536.7|NM_013439.3" +HGNC:18297 PILRB paired immunoglobin like type 2 receptor beta protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FDFACT1|FDFACT2" paired immunoglobin-like type 2 receptor beta V-set domain containing 590 2003-09-10 2019-02-21 2019-02-21 29990 ENSG00000121716 OTTHUMG00000155363 uc064gdi.1 "AF161081|AJ400845" NM_178238 CCDS43622 Q9UKJ0 10660620 "MGI:2450532|MGI:2450535" RGD:1584675 605342 HGNC:18297 "ENST00000609309.3|NM_178238.4" +HGNC:8986 PIM1 Pim-1 proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 6p21.2 06p21.2 PIM pim-1 oncogene 1986-01-01 2014-06-25 2016-10-05 5292 ENSG00000137193 OTTHUMG00000016426 uc003onk.4 NM_001243186 CCDS4830 P11309 MGI:97584 RGD:3330 PIM1 164960 objectId:2158 HGNC:8986 "ENST00000373509.6|NM_002648.4" +HGNC:8987 PIM2 Pim-2 proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 pim-2 oncogene 1999-08-26 2014-06-25 2020-04-02 11040 ENSG00000102096 OTTHUMG00000024132 uc004dls.4 U77735 NM_006875 CCDS14312 Q9P1W9 9804974 MGI:97587 RGD:1560759 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PIM2 300295 objectId:2159 HGNC:8987 "ENST00000376509.4|NM_006875.4" +HGNC:19310 PIM3 Pim-3 proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 22q13.33 22q13.33 pim-3 oncogene MicroRNA protein coding host genes 1691 2005-01-21 2014-06-25 2018-06-04 415116 ENSG00000198355 OTTHUMG00000150290 uc003bjb.4 BC052239 NM_001001852 CCDS33678 Q86V86 12748291 MGI:1355297 RGD:620462 610580 objectId:2160 HGNC:19310 "ENST00000360612.5|NM_001001852.4" +HGNC:25483 PIMREG PICALM interacting mitotic regulator protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FLJ10156|FLJ10491|CATS|RCS1" "CALM interacting protein expressed in thymus and spleen|Regulator of chromosome segregation protein 1" FAM64A "family with sequence similarity 64, member A|family with sequence similarity 64 member A" 2005-04-29 2017-02-22 2017-02-22 2020-11-17 54478 ENSG00000129195 OTTHUMG00000177832 uc002gcu.3 NM_019013 "CCDS32541|CCDS56016" Q9BSJ6 "19383357|16491119" MGI:1924434 RGD:1308747 617611 HGNC:25483 "ENST00000572447.6|NM_019013.3" +HGNC:54612 PIMREGP1 PIMREG pseudogene 1 pseudogene pseudogene Approved 2q33.1 02q33.1 2019-10-16 2019-10-16 442063 ENSG00000226261 NG_021546 +HGNC:54613 PIMREGP2 PIMREG pseudogene 2 pseudogene pseudogene Approved 4q24 04q24 2019-10-16 2019-10-16 402182 ENSG00000216425 NG_022022 +HGNC:54614 PIMREGP3 PIMREG pseudogene 3 pseudogene pseudogene Approved 6q15 06q15 2019-10-16 2019-10-16 100132736 ENSG00000217653 NG_022361 +HGNC:54615 PIMREGP4 PIMREG pseudogene 4 pseudogene pseudogene Approved 4p15.2 04p15.2 2019-10-16 2019-10-16 100421493 ENSG00000248340 NG_025090 +HGNC:8988 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 protein-coding gene gene with protein product Approved 19p13 19p13 dod "protein interacting with never in mitosis A1|parvulin PIN1" protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1 Parvulins 920 1996-12-16 2008-03-25 2022-02-25 5300 ENSG00000127445 OTTHUMG00000180388 uc002mml.3 NM_006221 CCDS12220 Q13526 8606777 MGI:1346036 RGD:1310299 LRG_847|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_847.xml 601052 objectId:3171 HGNC:8988 "ENST00000247970.9|NM_006221.4" +HGNC:55303 PIN1-DT PIN1 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 Divergent transcripts 1990 2020-10-15 2020-10-15 100996288 ENSG00000267289 XR_158942 +HGNC:8989 PIN1P1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 PIN1L "protein (peptidylprolyl cis/trans isomerase) NIMA-interacting 1-like|peptidylprolyl cis/trans isomerase, NIMA-interacting 1-like (pseudogene)" 1996-12-16 2010-10-28 2010-10-28 2016-10-05 5301 ENSG00000229359 OTTHUMG00000009268 U82382 NR_023916 O15428 9299231 602051 PGOHUM00000244752 HGNC:8989 +HGNC:8992 PIN4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "PAR14|PAR17|EPVH" parvulin "protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)|peptidylprolyl cis/trans isomerase NIMA-interacting, 4" Parvulins 920 1998-08-26 2015-03-04 2020-04-02 5303 ENSG00000102309 OTTHUMG00000021811 uc004eam.4 AB009690 NM_006223 CCDS55447 Q9Y237 "16522211|17875217" MGI:1916963 RGD:1590326 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PIN4 300252 HGNC:8992 "ENST00000373669.8|NM_006223.4" +HGNC:44193 PIN4P1 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 pseudogene 1 pseudogene pseudogene Approved 15q15.3 15q15.3 protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 pseudogene 1 2012-06-30 2016-06-27 2016-06-27 728758 ENSG00000227973 OTTHUMG00000060476 NR_003571 PGOHUM00000251181 HGNC:44193 +HGNC:53590 PINCR p53-induced noncoding RNA non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 Long non-coding RNAs with non-systematic symbols 1992 2017-06-08 2017-06-08 101927501 ENSG00000224294 OTTHUMG00000021384 NR_110387 28580901 HGNC:53590 +HGNC:14581 PINK1 PTEN induced kinase 1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 BRPK PARK6 "Parkinson disease (autosomal recessive) 6|PTEN induced putative kinase 1" MicroRNA protein coding host genes 1691 2001-02-08 2018-08-29 2021-05-26 65018 ENSG00000158828 OTTHUMG00000002841 uc001bdm.3 AB053323 NM_032409 CCDS211 Q9BXM7 "24751536|11494141|15349860|14607334" MGI:1916193 RGD:1305769 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PINK1 608309 117822 objectId:2161 HGNC:14581 "ENST00000321556.5|NM_032409.3" HGNC:14581 +HGNC:38872 PINK1-AS PINK1 antisense RNA non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 "FLJ00387|PINK1AS|naPINK1" PINK1-AS1 "PINK1 antisense RNA 1 (non-protein coding)|PINK1 antisense RNA (non-protein coding)" Antisense RNAs 1987 2010-08-19 2012-02-02 2012-08-15 2014-09-24 100861548 ENSG00000117242 OTTHUMG00000002840 uc031tru.1 AK090466 NR_046507 17362513 PINK1-AS HGNC:38872 +HGNC:44206 PINLYP phospholipase A2 inhibitor and LY6/PLAUR domain containing protein-coding gene gene with protein product Approved 19q13.31 19q13.31 LY6/PLAUR domain containing 1226 2012-07-20 2012-07-20 390940 ENSG00000234465 OTTHUMG00000175560 uc021uvg.2 NM_001193621 CCDS58667 A6NC86 MGI:3615324 RGD:1565787 HGNC:44206 +HGNC:30046 PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "LPTL|LPTS|FLJ20565|MGC8850|Gno1|Pxr1" "PIN2 interacting protein 1|liver-related putative tumor suppressor" PIN2/TERF1 interacting telomerase inhibitor 1 "G-patch domain containing|SSU processome|MicroRNA protein coding host genes" "579|1484|1691" 2010-04-26 2018-02-23 2020-05-04 54984 ENSG00000254093 OTTHUMG00000163808 uc003wth.4 AF418553 NM_017884 "CCDS64825|CCDS47801" Q96BK5 "11003615|11701125" MGI:1919650 RGD:1566025 606505 HGNC:30046 "ENST00000314787.8|NM_017884.6" +HGNC:55532 PINX1-DT PINX1 divergent transcript non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Divergent transcripts 1990 2021-03-22 2021-03-22 101929229 ENSG00000253695 NR_125432 +HGNC:8993 PIP prolactin induced protein protein-coding gene gene with protein product Approved 7q34 07q34 "GCDFP-15|GCDFP15|GPIP4|SABP|BRST-2" "prolactin-inducible protein|gross cystic disease fluid protein 15|secretory actin-binding protein|apocrine" prolactin-induced protein 1988-08-19 2016-03-15 2022-02-09 5304 ENSG00000159763 OTTHUMG00000152635 uc003wcf.2 NM_002652 CCDS34768 P12273 "2727805|1955075" MGI:102696 RGD:70946 176720 HGNC:8993 "ENST00000291009.4|NM_002652.3" +HGNC:8997 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "PIP5KIIA|PIP5KIIalpha" PIP5K2A "phosphatidylinositol-4-phosphate 5-kinase, type II, alpha|phosphatidylinositol-5-phosphate 4-kinase, type II, alpha" 1997-07-22 2007-08-14 2016-04-11 2016-04-11 5305 ENSG00000150867 OTTHUMG00000017810 uc001irl.5 S78798 NM_005028 "CCDS7141|CCDS81443" P48426 "7852364|9367159" MGI:1298206 RGD:621708 603140 377556 objectId:2858 HGNC:8997 "ENST00000376573.9|NM_005028.5" +HGNC:8998 PIP4K2B phosphatidylinositol-5-phosphate 4-kinase type 2 beta protein-coding gene gene with protein product Approved 17q12 17q12 "PIP5KIIB|PIP5KIIbeta" PIP5K2B "phosphatidylinositol-4-phosphate 5-kinase, type II, beta|phosphatidylinositol-5-phosphate 4-kinase, type II, beta" 1998-09-18 2007-08-14 2016-04-11 2016-11-16 8396 ENSG00000276293 OTTHUMG00000188504 uc002hqs.4 U85245 NM_003559 CCDS11329 P78356 "9038203|14691457|9367159" MGI:1934234 RGD:621710 603261 objectId:2162 2.7.1.149 HGNC:8998 "ENST00000619039.5|NM_003559.5" +HGNC:23786 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma protein-coding gene gene with protein product Approved 12q13.3 12q13.3 FLJ22055 PIP5K2C "phosphatidylinositol-4-phosphate 5-kinase, type II, gamma|phosphatidylinositol-5-phosphate 4-kinase, type II, gamma" 2003-12-10 2007-08-14 2016-04-11 2016-04-11 79837 ENSG00000166908 OTTHUMG00000170144 uc001sou.4 AK125526 NM_024779 "CCDS55839|CCDS8946|CCDS53808" Q8TBX8 9367159 MGI:2152214 RGD:621711 617104 objectId:2163 HGNC:23786 "ENST00000354947.10|NM_024779.5" +HGNC:19299 PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MGC26684 "type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase|type I PtdIns-4,5-P(2) 4-phosphatase" "C14orf9|TMEM55B" "chromosome 14 open reading frame 9|transmembrane protein 55B" Phosphoinositide phosphatases 1079 2002-11-27 2017-07-20 2017-07-20 2017-07-20 90809 ENSG00000165782 OTTHUMG00000029545 uc001vxl.4 BC002867 NM_144568 "CCDS9551|CCDS41911" Q86T03 "16365287|17940011" MGI:2448501 RGD:1307475 609865 3.1.3.78 HGNC:19299 "ENST00000250489.9|NM_144568.4" +HGNC:25452 PIP4P2 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 DKFZp762O076 "type II phosphatidylinositol-4,5-bisphosphate 4-phosphatase|type II PtdIns-4,5-P(2) 4-phosphatase" TMEM55A transmembrane protein 55A Phosphoinositide phosphatases 1079 2005-07-18 2017-07-20 2017-07-20 2017-07-20 55529 ENSG00000155099 OTTHUMG00000164019 uc003yes.5 BC033892 NM_018710 CCDS6252 Q8N4L2 16365287 MGI:1919769 RGD:1306225 609864 3.1.3.78 HGNC:25452 "ENST00000285419.8|NM_018710.3" +HGNC:8994 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha protein-coding gene gene with protein product Approved 1q21.3 01q21.3 phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 1998-09-18 2016-04-11 2016-04-11 8394 ENSG00000143398 OTTHUMG00000012351 uc001exi.4 U78575 NM_003557 "CCDS44221|CCDS990|CCDS44220|CCDS81374|CCDS44219" Q99755 "8955136|10828584" MGI:107929 RGD:1306127 603275 objectId:2164 HGNC:8994 "ENST00000368888.9|NM_001135638.2" +HGNC:8995 PIP5K1B phosphatidylinositol-4-phosphate 5-kinase type 1 beta protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "STM7|MSS4" phosphatidylinositol-4-phosphate 5-kinase, type I, beta 1998-09-18 2016-04-11 2016-10-05 8395 ENSG00000107242 OTTHUMG00000019976 uc004agu.5 U78579 NM_003558 "CCDS6624|CCDS65063" O14986 "9177790|8841185" MGI:107930 RGD:1310914 602745 objectId:2500 HGNC:8995 "ENST00000265382.8|NM_003558.4" +HGNC:8996 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase type 1 gamma protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PIP5Kgamma|KIAA0589|LCCS3" phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 1999-12-14 2016-04-11 2016-04-11 23396 ENSG00000186111 OTTHUMG00000180870 uc002lyj.3 AB011161 NM_012398 "CCDS74257|CCDS56074|CCDS32872" O60331 9535851 MGI:1298224 RGD:1309938 606102 160322 objectId:2165 HGNC:8996 "ENST00000335312.8|NM_012398.3" HGNC:8996 +HGNC:28372 PIP5K1P1 phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 1 pseudogene pseudogene Approved 6p24.3 06p24.3 MGC26597 phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 2010-04-08 2016-04-11 2016-04-11 206426 ENSG00000219294 OTTHUMG00000014219 BC028580 NR_027712.1 12477932 PGOHUM00000243483 HGNC:28372 +HGNC:38068 PIP5K1P2 phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 2 pseudogene pseudogene Approved 7q36.3 07q36.3 phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 2 2010-04-08 2016-04-11 2016-04-11 100129824 ENSG00000229435 OTTHUMG00000151313 NG_023450 PGOHUM00000233661 HGNC:38068 +HGNC:28711 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "bA203J24.5|MGC46424" phosphatidylinositol-4-phosphate 5-kinase-like 1 2004-02-17 2016-03-24 2016-10-05 138429 ENSG00000167103 OTTHUMG00000020719 uc011mao.3 BC042184 NM_173492 "CCDS48030|CCDS6885" Q5T9C9 12477932 MGI:2448520 RGD:1597527 612865 HGNC:28711 "ENST00000388747.9|NM_001135219.2" +HGNC:17804 PIPOX pipecolic acid and sarcosine oxidase protein-coding gene gene with protein product Approved 17q11.2 17q11.2 LPIPOX L-pipecolic acid oxidase pipecolic acid oxidase 2001-12-13 2016-04-01 2016-10-05 51268 ENSG00000179761 OTTHUMG00000132679 uc002hdr.2 AF134593 NM_016518 CCDS11248 Q9P0Z9 "10772957|10642506" MGI:1197006 RGD:1311347 616713 470884 "1.5.3.1|1.5.3.7" HGNC:17804 "ENST00000323372.9|NM_016518.3" +HGNC:23733 PIPSL PIP5K1A and PSMD4 like (pseudogene) pseudogene pseudogene Approved 10q23.33 10q23.33 "PIP5K1A-PSMD4|PIP5K1P3" "PSMD4P2|PIP5K1L1" "proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2|phosphatidylinositol-4-phosphate 5-kinase, type I-like 1|PIP5K1A and PSMD4-like|PIP5K1A and PSMD4-like, pseudogene" 2003-12-04 2007-07-06 2019-02-18 2019-02-18 266971 ENSG00000180764 OTTHUMG00000137480 BC068549 NR_002319 A2A3N6 16344562 HGNC:23733 +HGNC:30048 PIR pirin protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 pirin (iron-binding nuclear protein) 2004-06-23 2015-11-12 2020-04-02 8544 ENSG00000087842 OTTHUMG00000021176 uc004cwu.5 Y07868 NM_003662 CCDS14167 O00625 9079676 MGI:1916906 RGD:1359212 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PIR 300931 HGNC:30048 "ENST00000380420.10|NM_001018109.3" +HGNC:37505 PIRC1 piwi-interacting RNA cluster 1 non-coding RNA RNA, cluster Approved 1 01 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313844 17881367 +HGNC:37506 PIRC2 piwi-interacting RNA cluster 2 non-coding RNA RNA, cluster Approved 1 01 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313924 17881367 +HGNC:37507 PIRC3 piwi-interacting RNA cluster 3 non-coding RNA RNA, cluster Approved 1 01 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313905 17881367 +HGNC:37508 PIRC4 piwi-interacting RNA cluster 4 non-coding RNA RNA, cluster Approved 1 01 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313807 17881367 +HGNC:37509 PIRC5 piwi-interacting RNA cluster 5 non-coding RNA RNA, cluster Approved 1 01 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313845 17881367 +HGNC:37510 PIRC6 piwi-interacting RNA cluster 6 non-coding RNA RNA, cluster Approved 1 01 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313846 17881367 +HGNC:37511 PIRC7 piwi-interacting RNA cluster 7 non-coding RNA RNA, cluster Approved 1 01 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313782 17881367 +HGNC:37512 PIRC8 piwi-interacting RNA cluster 8 non-coding RNA RNA, cluster Approved 1 01 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313915 17881367 +HGNC:37513 PIRC9 piwi-interacting RNA cluster 9 non-coding RNA RNA, cluster Approved 2 02 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313847 17881367 +HGNC:37514 PIRC10 piwi-interacting RNA cluster 10 non-coding RNA RNA, cluster Approved 2 02 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313783 17881367 +HGNC:37515 PIRC11 piwi-interacting RNA cluster 11 non-coding RNA RNA, cluster Approved 3 03 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313897 17881367 +HGNC:37516 PIRC12 piwi-interacting RNA cluster 12 non-coding RNA RNA, cluster Approved 3 03 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313808 17881367 +HGNC:37517 PIRC13 piwi-interacting RNA cluster 13 non-coding RNA RNA, cluster Approved 3 03 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313925 17881367 +HGNC:37518 PIRC14 piwi-interacting RNA cluster 14 non-coding RNA RNA, cluster Approved 3 03 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313784 17881367 +HGNC:37519 PIRC15 piwi-interacting RNA cluster 15 non-coding RNA RNA, cluster Approved 3 03 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313848 17881367 +HGNC:37520 PIRC16 piwi-interacting RNA cluster 16 non-coding RNA RNA, cluster Approved 4 04 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313849 17881367 +HGNC:37521 PIRC17 piwi-interacting RNA cluster 17 non-coding RNA RNA, cluster Approved 4 04 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313809 17881367 +HGNC:37522 PIRC18 piwi-interacting RNA cluster 18 non-coding RNA RNA, cluster Approved 4 04 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313906 17881367 +HGNC:37523 PIRC19 piwi-interacting RNA cluster 19 non-coding RNA RNA, cluster Approved 4 04 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313926 17881367 +HGNC:37524 PIRC20 piwi-interacting RNA cluster 20 non-coding RNA RNA, cluster Approved 5 05 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313785 17881367 +HGNC:37525 PIRC21 piwi-interacting RNA cluster 21 non-coding RNA RNA, cluster Approved 5 05 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313916 17881367 +HGNC:37526 PIRC22 piwi-interacting RNA cluster 22 non-coding RNA RNA, cluster Approved 5 05 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313850 17881367 +HGNC:37527 PIRC23 piwi-interacting RNA cluster 23 non-coding RNA RNA, cluster Approved 5 05 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313786 17881367 +HGNC:37528 PIRC24 piwi-interacting RNA cluster 24 non-coding RNA RNA, cluster Approved 6 06 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313810 17881367 +HGNC:37529 PIRC25 piwi-interacting RNA cluster 25 non-coding RNA RNA, cluster Approved 6 06 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313851 17881367 +HGNC:37530 PIRC26 piwi-interacting RNA cluster 26 non-coding RNA RNA, cluster Approved 6 06 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313852 17881367 +HGNC:37531 PIRC27 piwi-interacting RNA cluster 27 non-coding RNA RNA, cluster Approved 6 06 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313907 17881367 +HGNC:37532 PIRC28 piwi-interacting RNA cluster 28 non-coding RNA RNA, cluster Approved 6 06 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313893 17881367 +HGNC:37533 PIRC29 piwi-interacting RNA cluster 29 non-coding RNA RNA, cluster Approved 7 07 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313927 17881367 +HGNC:37534 PIRC30 piwi-interacting RNA cluster 30 non-coding RNA RNA, cluster Approved 7 07 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313853 17881367 +HGNC:37535 PIRC31 piwi-interacting RNA cluster 31 non-coding RNA RNA, cluster Approved 7 07 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313787 17881367 +HGNC:37536 PIRC32 piwi-interacting RNA cluster 32 non-coding RNA RNA, cluster Approved 7 07 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313811 17881367 +HGNC:37537 PIRC33 piwi-interacting RNA cluster 33 non-coding RNA RNA, cluster Approved 7 07 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313854 17881367 +HGNC:37538 PIRC34 piwi-interacting RNA cluster 34 non-coding RNA RNA, cluster Approved 7 07 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313890 17881367 +HGNC:37539 PIRC35 piwi-interacting RNA cluster 35 non-coding RNA RNA, cluster Approved 8 08 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313855 17881367 +HGNC:37540 PIRC36 piwi-interacting RNA cluster 36 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313928 17881367 +HGNC:37541 PIRC37 piwi-interacting RNA cluster 37 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313812 17881367 +HGNC:37542 PIRC38 piwi-interacting RNA cluster 38 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313788 17881367 +HGNC:37543 PIRC39 piwi-interacting RNA cluster 39 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313856 17881367 +HGNC:37544 PIRC40 piwi-interacting RNA cluster 40 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313898 17881367 +HGNC:37545 PIRC41 piwi-interacting RNA cluster 41 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313917 17881367 +HGNC:37546 PIRC42 piwi-interacting RNA cluster 42 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313789 17881367 +HGNC:37547 PIRC43 piwi-interacting RNA cluster 43 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313857 17881367 +HGNC:37548 PIRC44 piwi-interacting RNA cluster 44 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313908 17881367 +HGNC:37549 PIRC45 piwi-interacting RNA cluster 45 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313813 17881367 +HGNC:37550 PIRC46 piwi-interacting RNA cluster 46 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313858 17881367 +HGNC:37551 PIRC47 piwi-interacting RNA cluster 47 non-coding RNA RNA, cluster Approved 9 09 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313859 17881367 +HGNC:37552 PIRC48 piwi-interacting RNA cluster 48 non-coding RNA RNA, cluster Approved 10 10 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313790 17881367 +HGNC:37553 PIRC49 piwi-interacting RNA cluster 49 non-coding RNA RNA, cluster Approved 10 10 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313929 17881367 +HGNC:37554 PIRC50 piwi-interacting RNA cluster 50 non-coding RNA RNA, cluster Approved 11 11 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313814 17881367 +HGNC:37555 PIRC51 piwi-interacting RNA cluster 51 non-coding RNA RNA, cluster Approved 11 11 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313860 17881367 +HGNC:37556 PIRC52 piwi-interacting RNA cluster 52 non-coding RNA RNA, cluster Approved 11 11 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313791 17881367 +HGNC:37557 PIRC53 piwi-interacting RNA cluster 53 non-coding RNA RNA, cluster Approved 12 12 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313861 17881367 +HGNC:37558 PIRC54 piwi-interacting RNA cluster 54 non-coding RNA RNA, cluster Approved 12 12 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313815 17881367 +HGNC:37559 PIRC55 piwi-interacting RNA cluster 55 non-coding RNA RNA, cluster Approved 12 12 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313792 17881367 +HGNC:37560 PIRC56 piwi-interacting RNA cluster 56 non-coding RNA RNA, cluster Approved 12 12 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313862 17881367 +HGNC:37561 PIRC57 piwi-interacting RNA cluster 57 non-coding RNA RNA, cluster Approved 12 12 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313930 17881367 +HGNC:37562 PIRC58 piwi-interacting RNA cluster 58 non-coding RNA RNA, cluster Approved 13 13 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313918 17881367 +HGNC:37563 PIRC59 piwi-interacting RNA cluster 59 non-coding RNA RNA, cluster Approved 14 14 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313909 17881367 +HGNC:37564 PIRC60 piwi-interacting RNA cluster 60 non-coding RNA RNA, cluster Approved 14 14 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313863 17881367 +HGNC:37565 PIRC61 piwi-interacting RNA cluster 61 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313899 17881367 +HGNC:37566 PIRC62 piwi-interacting RNA cluster 62 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313816 17881367 +HGNC:37567 PIRC63 piwi-interacting RNA cluster 63 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313793 17881367 +HGNC:37568 PIRC64 piwi-interacting RNA cluster 64 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313864 17881367 +HGNC:37569 PIRC65 piwi-interacting RNA cluster 65 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313794 17881367 +HGNC:37570 PIRC66 piwi-interacting RNA cluster 66 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313865 17881367 HGNC:37570 +HGNC:37571 PIRC67 piwi-interacting RNA cluster 67 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313817 17881367 +HGNC:37572 PIRC68 piwi-interacting RNA cluster 68 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313931 17881367 +HGNC:37573 PIRC69 piwi-interacting RNA cluster 69 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313910 17881367 +HGNC:37574 PIRC70 piwi-interacting RNA cluster 70 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313866 17881367 +HGNC:37575 PIRC71 piwi-interacting RNA cluster 71 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313818 17881367 +HGNC:37576 PIRC72 piwi-interacting RNA cluster 72 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313867 17881367 +HGNC:37577 PIRC73 piwi-interacting RNA cluster 73 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313795 17881367 +HGNC:37578 PIRC74 piwi-interacting RNA cluster 74 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313932 17881367 +HGNC:37579 PIRC75 piwi-interacting RNA cluster 75 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313919 17881367 +HGNC:37580 PIRC76 piwi-interacting RNA cluster 76 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313796 17881367 HGNC:37580 +HGNC:37581 PIRC77 piwi-interacting RNA cluster 77 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313868 17881367 +HGNC:37582 PIRC78 piwi-interacting RNA cluster 78 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313869 17881367 +HGNC:37583 PIRC79 piwi-interacting RNA cluster 79 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313797 17881367 +HGNC:37584 PIRC80 piwi-interacting RNA cluster 80 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313819 17881367 +HGNC:37585 PIRC81 piwi-interacting RNA cluster 81 non-coding RNA RNA, cluster Approved 15 15 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313870 17881367 +HGNC:37586 PIRC82 piwi-interacting RNA cluster 82 non-coding RNA RNA, cluster Approved 16 16 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313933 17881367 +HGNC:37587 PIRC83 piwi-interacting RNA cluster 83 non-coding RNA RNA, cluster Approved 16 16 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313891 17881367 +HGNC:37588 PIRC84 piwi-interacting RNA cluster 84 non-coding RNA RNA, cluster Approved 16 16 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313820 17881367 +HGNC:37589 PIRC85 piwi-interacting RNA cluster 85 non-coding RNA RNA, cluster Approved 16 16 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313871 17881367 +HGNC:37590 PIRC86 piwi-interacting RNA cluster 86 non-coding RNA RNA, cluster Approved 16 16 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313911 17881367 +HGNC:37591 PIRC87 piwi-interacting RNA cluster 87 non-coding RNA RNA, cluster Approved 16 16 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313872 17881367 +HGNC:37592 PIRC88 piwi-interacting RNA cluster 88 non-coding RNA RNA, cluster Approved 16 16 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313894 17881367 +HGNC:37593 PIRC89 piwi-interacting RNA cluster 89 non-coding RNA RNA, cluster Approved 16 16 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313873 17881367 +HGNC:37594 PIRC90 piwi-interacting RNA cluster 90 non-coding RNA RNA, cluster Approved 17 17 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313798 17881367 +HGNC:37595 PIRC91 piwi-interacting RNA cluster 91 non-coding RNA RNA, cluster Approved 17 17 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313900 17881367 +HGNC:37596 PIRC92 piwi-interacting RNA cluster 92 non-coding RNA RNA, cluster Approved 17 17 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313920 17881367 +HGNC:37597 PIRC93 piwi-interacting RNA cluster 93 non-coding RNA RNA, cluster Approved 17 17 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313934 17881367 +HGNC:37598 PIRC94 piwi-interacting RNA cluster 94 non-coding RNA RNA, cluster Approved 17 17 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313799 17881367 +HGNC:37599 PIRC95 piwi-interacting RNA cluster 95 non-coding RNA RNA, cluster Approved 17 17 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313935 17881367 +HGNC:37600 PIRC96 piwi-interacting RNA cluster 96 non-coding RNA RNA, cluster Approved 18 18 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313800 17881367 +HGNC:37601 PIRC97 piwi-interacting RNA cluster 97 non-coding RNA RNA, cluster Approved 19 19 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313821 17881367 +HGNC:37602 PIRC98 piwi-interacting RNA cluster 98 non-coding RNA RNA, cluster Approved 19 19 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313874 17881367 +HGNC:37603 PIRC99 piwi-interacting RNA cluster 99 non-coding RNA RNA, cluster Approved 19 19 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313875 17881367 +HGNC:37604 PIRC100 piwi-interacting RNA cluster 100 non-coding RNA RNA, cluster Approved 19 19 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313912 17881367 +HGNC:37605 PIRC101 piwi-interacting RNA cluster 101 non-coding RNA RNA, cluster Approved 19 19 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313888 17881367 +HGNC:37606 PIRC102 piwi-interacting RNA cluster 102 non-coding RNA RNA, cluster Approved 19 19 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313876 17881367 +HGNC:37607 PIRC103 piwi-interacting RNA cluster 103 non-coding RNA RNA, cluster Approved 20 20 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313901 17881367 +HGNC:37608 PIRC104 piwi-interacting RNA cluster 104 non-coding RNA RNA, cluster Approved 20 20 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313801 17881367 +HGNC:37609 PIRC105 piwi-interacting RNA cluster 105 non-coding RNA RNA, cluster Approved 21 21 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313936 17881367 +HGNC:37610 PIRC106 piwi-interacting RNA cluster 106 non-coding RNA RNA, cluster Approved 22 22 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313877 17881367 +HGNC:37611 PIRC107 piwi-interacting RNA cluster 107 non-coding RNA RNA, cluster Approved 22 22 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313802 17881367 +HGNC:37612 PIRC108 piwi-interacting RNA cluster 108 non-coding RNA RNA, cluster Approved 22 22 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313878 17881367 +HGNC:37613 PIRC109 piwi-interacting RNA cluster 109 non-coding RNA RNA, cluster Approved 22 22 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313913 17881367 +HGNC:37614 PIRC110 piwi-interacting RNA cluster 110 non-coding RNA RNA, cluster Approved 22 22 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313879 17881367 +HGNC:37615 PIRC111 piwi-interacting RNA cluster 111 non-coding RNA RNA, cluster Approved 22 22 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313937 17881367 +HGNC:37616 PIRC112 piwi-interacting RNA cluster 112 non-coding RNA RNA, cluster Approved 22 22 Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313803 17881367 +HGNC:37617 PIRC113 piwi-interacting RNA cluster 113 non-coding RNA RNA, cluster Approved X X Piwi-interacting RNA clusters 851 2009-11-05 2014-11-19 100313880 17881367 +HGNC:37618 PIRC114 piwi-interacting RNA cluster 114 non-coding RNA RNA, cluster Approved X X Piwi-interacting RNA clusters 851 2009-11-05 2014-11-18 100313881 17881367 +HGNC:37239 PIRT phosphoinositide interacting regulator of transient receptor potential channels protein-coding gene gene with protein product Approved 17p12 17p12 phosphoinositide-interacting regulator of TRPV1 phosphoinositide-interacting regulator of transient receptor potential channels 2010-06-04 2016-04-01 2016-04-01 644139 ENSG00000233670 OTTHUMG00000178234 uc010col.4 AK021549 NM_001101387 CCDS45614 P0C851 18455988 MGI:2443635 RGD:1565284 612068 HGNC:37239 "ENST00000580256.3|NM_001101387.2" +HGNC:8999 PISD phosphatidylserine decarboxylase protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "dJ858B16.2|PSDC" MicroRNA protein coding host genes 1691 1999-10-29 2015-09-04 23761 ENSG00000241878 OTTHUMG00000030252 uc003alk.3 NM_001326411 "CCDS87016|CCDS13899" Q9UG56 10591208 MGI:2445114 RGD:1596729 612770 objectId:1277 4.1.1.65 HGNC:8999 "ENST00000439502.7|NM_001326411.2" HGNC:8999 +HGNC:16671 PISRT1 PISRT1 lncRNA non-coding RNA RNA, long non-coding Approved 3q23 03q23 NCRNA00195 non-protein coding RNA 195 "polled intersex syndrome regulated transcript 1 homolog (goat)|polled intersex syndrome regulated transcript 1 (non-protein coding RNA)" Long non-coding RNAs with non-systematic symbols 1992 2006-01-23 2018-05-04 2018-05-04 140464 ENSG00000281473 OTTHUMG00000189533 uc062ohu.1 AW268472 NR_027070 "16137905|22171663" PISRT1 HGNC:16671 +HGNC:25022 PITHD1 PITH domain containing 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "HT014|TXNL1CL" TXNL1 C-terminal like C1orf128 "chromosome 1 open reading frame 128|PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1" 2005-06-27 2011-02-21 2016-04-06 2020-02-07 57095 ENSG00000057757 OTTHUMG00000002960 uc001bhq.4 NM_020362 CCDS240 Q9GZP4 "25134913|31915251" MGI:1913443 RGD:1308048 618784 HGNC:25022 "ENST00000246151.9|NM_020362.5" +HGNC:9001 PITPNA phosphatidylinositol transfer protein alpha protein-coding gene gene with protein product Approved 17p13.3 17p13.3 VIB1A PITPN phosphotidylinositol transfer protein Phosphatidylinositol transfer proteins 1151 1994-03-24 2004-09-03 2015-11-20 2015-11-20 5306 ENSG00000174238 OTTHUMG00000177779 uc059zgh.1 M73704 NM_006224 CCDS45563 Q00169 8255295 MGI:99887 RGD:61885 600174 HGNC:9001 "ENST00000313486.12|NM_006224.4" +HGNC:44116 PITPNA-AS1 PITPNA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 PITPNA antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2020-08-05 100306951 ENSG00000236618 OTTHUMG00000132194 uc021tne.2 "HY016432|DB053306|AW978020" NR_028514 32460193 PITPNA-AS1 HGNC:44116 +HGNC:9002 PITPNB phosphatidylinositol transfer protein beta protein-coding gene gene with protein product Approved 22q12.1 22q12.1 VIB1B Phosphatidylinositol transfer proteins 1151 1999-10-29 2015-11-20 2015-11-20 23760 ENSG00000180957 OTTHUMG00000150976 uc003adk.5 D30037 NM_001284277 "CCDS63433|CCDS13842|CCDS63432" P48739 10591208 MGI:1927542 RGD:620143 606876 HGNC:9002 "ENST00000335272.10|NM_012399.5" +HGNC:21045 PITPNC1 phosphatidylinositol transfer protein cytoplasmic 1 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "RDGBB1|RDGBB|RDGB-BETA" phosphatidylinositol transfer protein, cytoplasmic 1 "Phosphatidylinositol transfer proteins|MicroRNA protein coding host genes" "1151|1691" 2003-05-09 2018-01-29 2020-04-01 26207 ENSG00000154217 OTTHUMG00000179602 uc002jgc.5 AF171102 NM_012417 "CCDS58587|CCDS58588" Q9UKF7 10531358 MGI:1919045 RGD:1597047 605134 HGNC:21045 "ENST00000581322.6|NM_012417.4" +HGNC:9003 PITPNM1 phosphatidylinositol transfer protein membrane associated 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "DRES9|NIR2|RDGB1|RDGBA1|Rd9|RDGB" "PYK2 N-terminal domain-interacting receptor 2|retinal degeneration B alpha 1" PITPNM phosphatidylinositol transfer protein, membrane associated 1 Phosphatidylinositol transfer proteins 1151 1999-06-10 2003-05-16 2016-03-11 2016-10-05 9600 ENSG00000110697 OTTHUMG00000167675 uc001oly.4 X98654 NM_004910 "CCDS31620|CCDS44659" O00562 9680295 MGI:1197524 RGD:1306710 608794 HGNC:9003 "ENST00000356404.8|NM_004910.3" +HGNC:21044 PITPNM2 phosphatidylinositol transfer protein membrane associated 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "RDGBA2|RDGB2|NIR3" phosphatidylinositol transfer protein, membrane associated 2 "Phosphatidylinositol transfer proteins|MicroRNA protein coding host genes" "1151|1691" 2003-05-09 2016-03-11 2017-03-27 57605 ENSG00000090975 OTTHUMG00000168845 uc001uej.2 AF334585 NM_020845 "CCDS9242|CCDS73543" Q9BZ72 10022914 MGI:1336192 RGD:1310867 608920 HGNC:21044 "ENST00000320201.10|NM_020845.3" +HGNC:53391 PITPNM2-AS1 PITPNM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Antisense RNAs 1987 2017-03-27 2017-03-27 100507091 ENSG00000251497 OTTHUMG00000168847 NR_038290 HGNC:53391 +HGNC:21043 PITPNM3 PITPNM family member 3 protein-coding gene gene with protein product Approved 17p13.2-p13.1 17p13.2-p13.1 "NIR1|RDGBA3|ACKR6" atypical chemokine receptor 6 CORD5 cone rod dystrophy 5 "Atypical chemokine receptors|Phosphatidylinositol transfer proteins" "1090|1151" 2003-05-09 2013-07-18 2013-07-18 2018-02-13 83394 ENSG00000091622 OTTHUMG00000102039 uc002gdd.5 AF334586 NM_031220 "CCDS11076|CCDS54080" Q9BZ71 10022914 MGI:2685726 RGD:1308200 608921 160327 HGNC:21043 "ENST00000262483.13|NM_031220.4" HGNC:21043 +HGNC:17663 PITRM1 pitrilysin metallopeptidase 1 protein-coding gene gene with protein product Approved 10p15.2 10p15.2 "MP1|KIAA1104|hMP1|PreP" "PreP peptidasome|presequence protease, mitochondrial" pitrilysin metalloproteinase 1 M16 metallopeptidases 1440 2002-09-24 2005-08-17 2016-02-01 10531 ENSG00000107959 OTTHUMG00000017557 uc009xhv.3 AB029027 NM_001242307 "CCDS55699|CCDS59208|CCDS55700" Q5JRX3 "1036083|10470851|16849325" MGI:1916867 RGD:1310998 618211 M16.009 HGNC:17663 "ENST00000224949.9|NM_014889.4" +HGNC:44675 PITRM1-AS1 PITRM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p15.2 10p15.2 Antisense RNAs 1987 2012-12-03 2012-12-03 100507034 ENSG00000237399 OTTHUMG00000017558 uc001igv.3 BC050332 NR_038284 PITRM1-AS1 HGNC:44675 +HGNC:9004 PITX1 paired like homeodomain 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "PTX1|POTX" BFT "paired-like homeodomain transcription factor 1|paired-like homeodomain 1" PRD class homeoboxes and pseudogenes 521 1998-02-27 2016-01-27 2021-05-26 5307 ENSG00000069011 OTTHUMG00000149983 uc010jea.4 AF009648 NM_002653 CCDS4182 P78337 "9337397|9070926" MGI:107374 RGD:69253 602149 8491 201502 HGNC:9004 "ENST00000265340.12|NM_002653.5" HGNC:9004 +HGNC:48332 PITX1-AS1 PITX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 C5orf66 "chromosome 5 open reading frame 66|chromosome 5 putative open reading frame 66" Antisense RNAs 1987 2013-11-06 2021-02-12 2021-02-12 2021-02-12 100996485 ENSG00000224186 OTTHUMG00000163075 NR_161235 HGNC:48332 +HGNC:9005 PITX2 paired like homeodomain 2 protein-coding gene gene with protein product Approved 4q25 04q25 "IGDS|RS|Brx1|Otlx2|ARP1" "IRID2|IHG2|RIEG|RIEG1|RGS" "paired-like homeodomain transcription factor 2|paired-like homeodomain 2" PRD class homeoboxes and pseudogenes 521 1992-10-05 2016-01-27 2021-05-26 5308 ENSG00000164093 OTTHUMG00000132837 uc003iac.4 U69961 NM_000325 "CCDS3693|CCDS3692|CCDS3694" Q99697 "9539779|7581385" MGI:109340 RGD:3331 601542 8492 117832 HGNC:9005 "ENST00000644743.1|NM_000325.6" HGNC:9005 +HGNC:9006 PITX3 paired like homeodomain 3 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 ASMD "paired-like homeodomain transcription factor 3|anterior segment mesenchymal dysgenesis|paired-like homeodomain 3" PRD class homeoboxes and pseudogenes 521 1998-06-04 2016-01-27 2021-05-26 5309 ENSG00000107859 OTTHUMG00000018952 uc001kuu.2 NM_005029 CCDS7532 O75364 9620774 MGI:1100498 RGD:3332 602669 8414 117844 HGNC:9006 "ENST00000370002.8|NM_005029.4" HGNC:9006 +HGNC:9007 PIWIL1 piwi like RNA-mediated gene silencing 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "PIWI|HIWI|CT80.1" "piwi (Drosophila)-like 1|piwi-like 1 (Drosophila)" Piwi like RNA-mediated gene silencing family 2038 2000-02-11 2016-04-19 2016-04-19 9271 ENSG00000125207 OTTHUMG00000168382 uc001uik.4 AF104260 NM_001190971 CCDS9268 Q96J94 "9851978|12906857" MGI:1928897 RGD:1306980 605571 HGNC:9007 "ENST00000245255.7|NM_004764.5" +HGNC:17644 PIWIL2 piwi like RNA-mediated gene silencing 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "HILI|FLJ10351|Mili|CT80" "Hiwi-like|cancer/testis antigen 80" piwi-like 2 (Drosophila) Piwi like RNA-mediated gene silencing family 2038 2002-04-26 2016-04-19 2016-10-05 55124 ENSG00000197181 OTTHUMG00000097767 uc003xbn.3 AK001213 NM_001135721 "CCDS83261|CCDS6029" Q8TC59 "11279525|12906857" MGI:1930036 RGD:1306964 610312 HGNC:17644 "ENST00000356766.11|NM_018068.5" HGNC:17644 +HGNC:55522 PIWIL2-DT PIWIL2 divergent transcript non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 Divergent transcripts 1990 2021-03-18 2021-03-18 100507071 ENSG00000254064 NR_134293 +HGNC:18443 PIWIL3 piwi like RNA-mediated gene silencing 3 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 HIWI3 piwi-like 3 (Drosophila) Piwi like RNA-mediated gene silencing family 2038 2002-04-26 2016-04-19 2016-04-19 440822 ENSG00000184571 OTTHUMG00000150788 uc003abd.3 AB079368 NM_001008496 CCDS33623 Q7Z3Z3 12906857 610314 HGNC:18443 "ENST00000616349.5|NM_001255975.1" +HGNC:18444 PIWIL4 piwi like RNA-mediated gene silencing 4 protein-coding gene gene with protein product Approved 11q21 11q21 "FLJ36156|HIWI2|Miwi2" piwi-like 4 (Drosophila) Piwi like RNA-mediated gene silencing family 2038 2002-04-26 2016-04-19 2016-04-19 143689 ENSG00000134627 OTTHUMG00000167811 uc001pfa.3 AB079366 NM_152431 CCDS31656 Q7Z3Z4 12906857 MGI:3041167 RGD:1311015 610315 HGNC:18444 "ENST00000299001.11|NM_152431.3" +HGNC:55493 PIWIL4-AS1 PIWIL4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q21 11q21 Antisense RNAs 1987 2021-03-12 2021-03-12 105369438 ENSG00000255929 NR_135093 +HGNC:16648 PJA1 praja ring finger ubiquitin ligase 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "FLJ11830|RNF70|PRAJA1" "praja 1|praja ring finger 1|praja ring finger 1, E3 ubiquitin protein ligase" Ring finger proteins 58 2001-12-07 2016-01-27 2021-05-18 64219 ENSG00000181191 OTTHUMG00000021753 uc004dxh.4 AK021892 NM_145119 "CCDS14393|CCDS35316|CCDS14392" Q8NG27 "12036302|21513699|28067271" MGI:1101765 RGD:1591532 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PJA1 300420 HGNC:16648 "ENST00000374571.5|NM_001032396.4" +HGNC:17481 PJA2 praja ring finger ubiquitin ligase 2 protein-coding gene gene with protein product Approved 5q21.3 05q21.3 "KIAA0438|Neurodap1|PRAJA2" RNF131 "ring finger protein 131|praja ring finger 2|praja ring finger 2, E3 ubiquitin protein ligase" Ring finger proteins 58 2003-05-21 2003-06-05 2016-01-27 2021-05-28 9867 ENSG00000198961 OTTHUMG00000128750 uc003kos.5 AB007898 NM_014819 CCDS4099 O43164 "21423175|33934390" MGI:2159342 RGD:620273 619341 HGNC:17481 "ENST00000361189.7|NM_014819.5" +HGNC:29502 PJVK pejvakin protein-coding gene gene with protein product Approved 2q31.2 02q31.2 DFNB59 deafness, autosomal recessive 59 Gasdermins 1529 2005-01-13 2017-06-30 2017-06-30 2021-05-26 494513 ENSG00000204311 OTTHUMG00000154425 uc002umi.5 "BC020859|BQ887979" NM_001042702 "CCDS42787|CCDS86897" Q0ZLH3 16804542 MGI:2685847 RGD:1587131 610219 166807 HGNC:29502 "ENST00000644580.2|NM_001042702.5" HGNC:29502 +HGNC:9008 PKD1 polycystin 1, transient receptor potential channel interacting protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "PBP|Pc-1|TRPP1" "polycystin 1|transient receptor potential cation channel, subfamily P, member 1" polycystic kidney disease 1 (autosomal dominant) "C-type lectin domain containing|MicroRNA protein coding host genes" "1298|1691" 2001-06-22 2016-01-28 2021-05-26 5310 ENSG00000008710 OTTHUMG00000155795 uc002cos.1 L33243 NM_000296 "CCDS45385|CCDS32369" P98161 19556541 MGI:97603 RGD:3333 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PKD1 601313 117846 P02.036 HGNC:9008 "ENST00000262304.9|NM_001009944.3" HGNC:9008 +HGNC:56035 PKD1-AS1 PKD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2021-12-06 2021-12-06 105371049 ENSG00000259933 NR_135175 +HGNC:18053 PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting protein-coding gene gene with protein product Approved 7p12.3 07p12.3 PRO19563 polycystin-1L1 polycystic kidney disease 1 like 1 2002-03-21 2016-01-28 2021-05-26 168507 ENSG00000158683 OTTHUMG00000155649 uc003tny.3 AB061683 NM_138295 CCDS34633 Q8TDX9 "11863367|24336289" MGI:2156538 RGD:1564724 609721 475300 HGNC:18053 "ENST00000289672.7|NM_138295.5" HGNC:18053 +HGNC:21911 PKD1L1-AS1 PKD1L1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p12.3 07p12.3 FLJ21075 C7orf69 "chromosome 7 open reading frame 69|chromosome 7 putative open reading frame 69" Antisense RNAs 1987 2009-04-08 2021-02-15 2021-02-15 2021-02-15 80099 ENSG00000136275 OTTHUMG00000155648 uc064dnq.1 BC113681 NR_161268 Q9H7B7 HGNC:21911 +HGNC:21715 PKD1L2 polycystin 1 like 2 (gene/pseudogene) protein-coding gene gene with protein product Approved 16q23.2 16q23.2 KIAA1879 polycystic kidney disease 1-like 2 C-type lectin domain containing 1298 2003-08-05 2016-01-28 2020-05-15 114780 ENSG00000166473 OTTHUMG00000166126 uc032egc.1 AY164483 NM_001076780 CCDS61999 Q7Z442 12782129 MGI:2664668 RGD:1588631 607894 HGNC:21715 +HGNC:21716 PKD1L3 polycystin 1 like 3, transient receptor potential channel interacting protein-coding gene gene with protein product Approved 16q22.2 16q22.2 polycystic kidney disease 1-like 3 C-type lectin domain containing 1298 2003-08-05 2016-01-28 2019-08-20 342372 ENSG00000277481 OTTHUMG00000166114 uc059wxm.1 AY164485 NM_181536 CCDS73912 Q7Z443 "12782129|20538909" MGI:2664670 RGD:2324490 607895 HGNC:21716 "ENST00000620267.2|NM_181536.2" +HGNC:30065 PKD1P1 polycystin 1, transient receptor potential channel interacting pseudogene 1 pseudogene pseudogene Approved 16p13.11 16p13.11 polycystic kidney disease 1 (autosomal dominant) pseudogene 1 2004-05-19 2016-01-28 2016-10-05 339044 ENSG00000244257 OTTHUMG00000133625 NR_036447 "10493829|11414761" PGOHUM00000250674 HGNC:30065 +HGNC:30066 PKD1P2 polycystin 1, transient receptor potential channel interacting pseudogene 2 pseudogene pseudogene Approved 16p13.11 16p13.11 polycystic kidney disease 1 (autosomal dominant) pseudogene 2 2004-05-19 2016-01-28 2020-04-06 283955 ENSG00000227827 OTTHUMG00000166306 NG_002795 "10493829|11414761" PGOHUM00000248996 HGNC:30066 +HGNC:30067 PKD1P3 polycystin 1, transient receptor potential channel interacting pseudogene 3 pseudogene pseudogene Approved 16p13.11 16p13.11 polycystic kidney disease 1 (autosomal dominant) pseudogene 3 2004-05-19 2016-01-28 2020-04-06 339039 ENSG00000183458 OTTHUMG00000166303 NG_002796 "11414761|10493829" PGOHUM00000248991 HGNC:30067 +HGNC:30068 PKD1P4 polycystin 1, transient receptor potential channel interacting pseudogene 4 pseudogene pseudogene Approved 16p12.3 16p12.3 polycystic kidney disease 1 (autosomal dominant) pseudogene 4 2004-05-19 2016-01-28 2020-04-06 353512 ENSG00000205746 OTTHUMG00000166285 NG_002800 "10493829|8004675" HGNC:30068 +HGNC:30069 PKD1P5 polycystin 1, transient receptor potential channel interacting pseudogene 5 pseudogene pseudogene Approved 16p12.3 16p12.3 polycystic kidney disease 1 (autosomal dominant) pseudogene 5 2004-05-19 2016-01-28 2016-01-28 348156 ENSG00000254681 OTTHUMG00000166287 NG_002798 "8004675|10493829" PGOHUM00000248747 HGNC:30069 +HGNC:30070 PKD1P6 polycystin 1, transient receptor potential channel interacting pseudogene 6 pseudogene pseudogene Approved 16p13.11 16p13.11 polycystic kidney disease 1 (autosomal dominant) pseudogene 6 2004-05-19 2016-01-28 2016-01-28 353511 ENSG00000250251 OTTHUMG00000156664 uc059rdq.1 NG_002799 "8004675|10493829" HGNC:30070 +HGNC:9009 PKD2 polycystin 2, transient receptor potential cation channel protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "PKD4|PC2|Pc-2|TRPP2" transient receptor potential cation channel, subfamily P, member 2 polycystic kidney disease 2 (autosomal dominant) "Transient receptor potential cation channels|EF-hand domain containing" "249|863" 1988-08-07 2016-01-28 2021-05-26 5311 ENSG00000118762 OTTHUMG00000160982 uc003hre.4 U50928 NM_000297 CCDS3627 Q13563 8298643 MGI:1099818 RGD:1559992 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PKD2 173910 117849 objectId:504 HGNC:9009 "ENST00000237596.7|NM_000297.4" HGNC:9009 +HGNC:9011 PKD2L1 polycystin 2 like 1, transient receptor potential cation channel protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "PCL|TRPP3" "transient receptor potential cation channel, subfamily P, member 3|polycystin-L" "PKD2L|PKDL" polycystic kidney disease 2-like 1 Transient receptor potential cation channels 249 1999-01-21 2016-01-28 2019-12-04 9033 ENSG00000107593 OTTHUMG00000018910 uc001kqx.2 AF094827 NM_016112 CCDS7492 Q9P0L9 "9878261|9748274" MGI:1352448 RGD:1306261 604532 objectId:505 HGNC:9011 "ENST00000318222.4|NM_016112.3" +HGNC:9012 PKD2L2 polycystin 2 like 2, transient receptor potential cation channel protein-coding gene gene with protein product Approved 5q31.2 05q31.2 TRPP5 transient receptor potential cation channel subfamily P member 5 polycystic kidney disease 2-like 2 Transient receptor potential cation channels 249 2000-01-04 2016-01-28 2016-10-05 27039 ENSG00000078795 OTTHUMG00000163306 uc003lbw.2 AF118125 NM_014386 "CCDS43367|CCDS58971|CCDS58972|CCDS78062" Q9NZM6 10602361 MGI:1858231 RGD:1310272 604669 objectId:506 HGNC:9012 "ENST00000508883.6|NM_001300921.2" +HGNC:55557 PKD2L2-DT PKD2L2 divergent transcript non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 Divergent transcripts 1990 2021-04-07 2021-04-07 101928005 ENSG00000250159 XR_007058950 +HGNC:25123 PKDCC protein kinase domain containing, cytoplasmic protein-coding gene gene with protein product Approved 2p21 02p21 "SgK493|Vlk" vertebrate lonesome kinase protein kinase domain containing, cytoplasmic homolog (mouse) 2009-11-06 2012-12-07 2018-09-27 91461 ENSG00000162878 OTTHUMG00000152303 uc002rsg.4 NM_138370 CCDS33186 Q504Y2 "19097194|19465597|27016259" MGI:2147077 RGD:1311939 614150 objectId:2166 HGNC:25123 "ENST00000294964.6|NM_138370.3" HGNC:25123 +HGNC:9015 PKDREJ polycystin family receptor for egg jelly protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like|polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like|polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)|polycystin (PKD) family receptor for egg jelly" 1999-06-09 2017-03-14 2017-03-14 10343 ENSG00000130943 OTTHUMG00000150493 uc003bhh.4 AF116458 NM_006071 CCDS14073 Q9NTG1 "9949214|10591208" MGI:1338786 RGD:1306587 604670 HGNC:9015 "ENST00000253255.7|NM_006071.2" +HGNC:9016 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin protein-coding gene gene with protein product Approved 6p12.3-p12.2 06p12.3-p12.2 "ARPKD|FCYT|FPC" "tigmin|polyductin|fibrocystin|fibrocystin/polyductin complex" TIGM1 "TIG multiple domains 1|polycystic kidney and hepatic disease 1 (autosomal recessive)|PKHD1, fibrocystin/polyductin" IPT domain containing 1752 1994-12-15 2019-01-31 2021-05-26 5314 ENSG00000170927 OTTHUMG00000014841 uc003pah.2 AF480064 NM_138694 "CCDS4936|CCDS4935" P08F94 "9503014|18782757|20554582" MGI:2155808 RGD:1308476 Autosomal Recessive Polycystic Kidney Disease|http://www.humgen.rwth-aachen.de/ 606702 117853 HGNC:9016 "ENST00000371117.8|NM_138694.4" HGNC:9016 +HGNC:20313 PKHD1L1 PKHD1 like 1 protein-coding gene gene with protein product Approved 8q23.1-q23.2 08q23.1-q23.2 polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 IPT domain containing 1752 2003-03-28 2017-02-22 2018-02-13 93035 ENSG00000205038 OTTHUMG00000164934 uc003yne.4 AY219181 NM_177531 CCDS47911 Q86WI1 12620974 MGI:2183153 RGD:1310406 607843 HGNC:20313 "ENST00000378402.10|NM_177531.6" +HGNC:9017 PKIA cAMP-dependent protein kinase inhibitor alpha protein-coding gene gene with protein product Approved 8q21.13 08q21.13 PRKACN1 protein kinase (cAMP-dependent, catalytic) inhibitor alpha 1999-08-27 2016-12-21 2016-12-21 5569 ENSG00000171033 OTTHUMG00000164618 uc003yba.4 S76965 NM_006823 CCDS6222 P61925 1770951 MGI:104747 RGD:621021 606059 HGNC:9017 "ENST00000396418.7|NM_006823.4" +HGNC:51659 PKIA-AS1 PKIA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 Antisense RNAs 1987 2015-04-24 2015-04-24 101927003 ENSG00000254266 OTTHUMG00000164617 BC036404 NR_125389 PKIA-AS1 HGNC:51659 +HGNC:9018 PKIB cAMP-dependent protein kinase inhibitor beta protein-coding gene gene with protein product Approved 6q22.31 06q22.31 PRKACN2 protein kinase (cAMP-dependent, catalytic) inhibitor beta 1999-08-27 2016-12-21 2016-12-21 5570 ENSG00000135549 OTTHUMG00000015488 uc003pyz.4 NM_001270393 "CCDS5126|CCDS59033" Q9C010 10880337 MGI:101937 RGD:3335 606914 HGNC:9018 "ENST00000368452.7|NM_181795.3" +HGNC:9019 PKIG cAMP-dependent protein kinase inhibitor gamma protein-coding gene gene with protein product Approved 20q13.12 20q13.12 protein kinase (cAMP-dependent, catalytic) inhibitor gamma 1999-09-07 2016-12-21 2016-12-21 11142 ENSG00000168734 OTTHUMG00000033065 uc002xmi.5 AB019517 NM_001281444 CCDS13334 Q9Y2B9 10880337 MGI:1343086 RGD:628775 604932 HGNC:9019 "ENST00000372886.6|NM_001281445.2" +HGNC:9020 PKLR pyruvate kinase L/R protein-coding gene gene with protein product Approved 1q22 01q22 pyruvate kinase, liver and RBC 2001-06-22 2017-09-21 2021-05-26 5313 ENSG00000143627 OTTHUMG00000035875 uc001fkb.5 "BC025737|M15465" NM_000298 "CCDS1109|CCDS44240" P30613 3566732 MGI:97604 RGD:3336 LRG_1136|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1136.xml 609712 117861 objectId:3007 2.7.1.40 HGNC:9020 "ENST00000342741.6|NM_000298.6" HGNC:9020 +HGNC:9021 PKM pyruvate kinase M1/2 protein-coding gene gene with protein product Approved 15q23 15q23 "THBP1|OIP3|PK3" PKM2 pyruvate kinase, muscle 2001-06-22 2012-05-23 2017-09-15 2017-09-15 5315 ENSG00000067225 OTTHUMG00000172709 uc002aty.3 M23725 NM_001206796 "CCDS73752|CCDS55972|CCDS32284|CCDS32285" P14618 2040271 MGI:97591 RGD:3337 179050 objectId:3006 2.7.1.40 HGNC:9021 "ENST00000335181.10|NM_002654.6" +HGNC:44243 PKMP1 pyruvate kinase M1/2 pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 pyruvate kinase, muscle pseudogene 1 2012-07-25 2017-09-15 2017-09-15 643586 ENSG00000236480 OTTHUMG00000011897 NG_022800 PGOHUM00000259573 HGNC:44243 +HGNC:44244 PKMP2 pyruvate kinase M1/2 pseudogene 2 pseudogene pseudogene Approved Xq12 Xq12 pyruvate kinase, muscle pseudogene 2 2012-07-25 2017-09-15 2017-09-15 402408 ENSG00000235892 OTTHUMG00000021735 NG_022667 PGOHUM00000260968 HGNC:44244 +HGNC:44245 PKMP3 pyruvate kinase M1/2 pseudogene 3 pseudogene pseudogene Approved 6q14.3 06q14.3 pyruvate kinase, muscle pseudogene 3 2012-07-25 2017-09-15 2017-09-15 100419758 ENSG00000220563 OTTHUMG00000015143 NG_025841 PGOHUM00000243274 HGNC:44245 +HGNC:44246 PKMP4 pyruvate kinase M1/2 pseudogene 4 pseudogene pseudogene Approved 8q21.11 08q21.11 pyruvate kinase, muscle pseudogene 4 2012-07-25 2017-09-15 2017-09-15 106480443 ENSG00000254023 OTTHUMG00000164549 NG_043399 PGOHUM00000249718 HGNC:44246 +HGNC:44247 PKMP5 pyruvate kinase M1/2 pseudogene 5 pseudogene pseudogene Approved 6p25.1 06p25.1 pyruvate kinase, muscle pseudogene 5 2012-07-25 2017-09-15 2017-09-15 442156 ENSG00000215057 OTTHUMG00000014183 NG_022342 PGOHUM00000262463 HGNC:44247 +HGNC:29650 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MYT1|PPP1R126" "membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase|protein phosphatase 1, regulatory subunit 126" Protein phosphatase 1 regulatory subunits 694 2005-01-20 2014-11-19 9088 ENSG00000127564 OTTHUMG00000128975 uc059psg.1 AK097642 NM_004203 "CCDS58415|CCDS58414|CCDS45391|CCDS10486" Q99640 "9001210|12606722" MGI:2137630 RGD:1305434 602474 objectId:2167 HGNC:29650 "ENST00000262300.13|NM_004203.5" +HGNC:9405 PKN1 protein kinase N1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "DBK|PRK1|PKN|MGC46204|PAK1" PRKCL1 protein kinase C-like 1 "C2 domain containing protein kinases|AGC family kinases" "835|1625" 1997-10-10 2004-07-01 2004-07-01 2014-11-19 5585 ENSG00000123143 OTTHUMG00000039611 uc002myp.4 S75546 "NM_002741|NM_213560" "CCDS42513|CCDS42514" Q16512 9570957 MGI:108022 RGD:69308 601032 objectId:1520 HGNC:9405 "ENST00000242783.11|NM_002741.5" +HGNC:9406 PKN2 protein kinase N2 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "PRK2|Pak-2|STK7" cardiolipin-activated protein kinase Pak2 PRKCL2 protein kinase C-like 2 "C2 domain containing protein kinases|AGC family kinases|Small nucleolar RNA protein coding host genes" "835|1625|1835" 1997-10-10 2004-07-01 2004-07-01 2016-10-05 5586 ENSG00000065243 OTTHUMG00000010074 uc001dmn.4 U33052 NM_006256 "CCDS714|CCDS81350" Q16513 "7988719|7851406" MGI:109211 RGD:620146 602549 objectId:1521 HGNC:9406 "ENST00000370521.8|NM_006256.4" +HGNC:50597 PKN2-AS1 PKN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p22.2 01p22.2 Antisense RNAs 1987 2014-05-22 2014-05-22 101927891 ENSG00000237505 OTTHUMG00000010024 NR_110682 PKN2-AS1 HGNC:50597 +HGNC:17999 PKN3 protein kinase N3 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "PKNbeta|UTDP4-1" "C2 domain containing protein kinases|Minor histocompatibility antigens|AGC family kinases" "835|870|1625" 2004-04-23 2016-10-05 29941 ENSG00000160447 OTTHUMG00000020757 uc004bvw.4 AB019692 NM_013355 CCDS6908 Q6P5Z2 10441506 MGI:2388285 RGD:1305921 610714 objectId:1522 HGNC:17999 "ENST00000291906.5|NM_013355.5" +HGNC:9022 PKNOX1 PBX/knotted 1 homeobox 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 PREP1 TALE class homeoboxes and pseudogenes 526 1997-03-19 2015-09-04 5316 ENSG00000160199 OTTHUMG00000086833 uc002zcq.3 NM_001286258 "CCDS68211|CCDS13692" P55347 9479508 MGI:1201409 RGD:1305003 602100 8493 HGNC:9022 "ENST00000291547.10|NM_004571.5" +HGNC:16714 PKNOX2 PBX/knotted 1 homeobox 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 TALE class homeoboxes and pseudogenes 526 2001-10-01 2015-09-04 63876 ENSG00000165495 OTTHUMG00000165884 uc001qbu.4 AK023136 NM_001382323 CCDS41730 Q96KN3 11549286 MGI:2445415 RGD:1590611 613066 8546 HGNC:16714 "ENST00000298282.14|NM_001382323.2" +HGNC:50690 PKNOX2-DT PKNOX2 divergent transcript non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 PKNOX2-AS1 PKNOX2 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-06-05 2021-03-17 2021-03-17 2021-03-17 103695364 ENSG00000254880 OTTHUMG00000165883 BP872841 NR_125759 PKNOX2-AS1 HGNC:50690 +HGNC:9023 PKP1 plakophilin 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 B6P ectodermal dysplasia/skin fragility syndrome plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) "Armadillo repeat containing|Plakophilins" "409|1541" 1996-10-18 2014-06-18 2021-05-26 5317 ENSG00000081277 OTTHUMG00000035729 uc001gwe.3 X79293 NM_000299 "CCDS30966|CCDS30967" Q13835 9272178 MGI:1328359 RGD:1307472 601975 117868 HGNC:9023 "ENST00000367324.8|NM_001005337.3" HGNC:9023 +HGNC:9024 PKP2 plakophilin 2 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "Armadillo repeat containing|Plakophilins" "409|1541" 1997-08-28 2021-05-26 5318 ENSG00000057294 OTTHUMG00000169500 uc001rlk.5 X97675 NM_004572 "CCDS31771|CCDS8731" Q99959 8922383 MGI:1914701 RGD:1306533 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PKP2|LRG_398|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_398.xml" 602861 117871 HGNC:9024 "ENST00000340811.9|NM_001005242.3" HGNC:9024 +HGNC:13413 PKP2P1 plakophilin 2 pseudogene 1 pseudogene pseudogene Approved 12p13 12p13 2003-10-14 2003-10-14 82500 NG_000936 10828611 HGNC:13413 +HGNC:9025 PKP3 plakophilin 3 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "Armadillo repeat containing|Plakophilins" "409|1541" 1998-10-14 2016-10-05 11187 ENSG00000184363 OTTHUMG00000119068 uc001lpc.3 Z98265 NM_007183 CCDS7695 Q9Y446 10374265 MGI:1891830 RGD:1309133 605561 HGNC:9025 "ENST00000331563.7|NM_007183.4" +HGNC:9026 PKP4 plakophilin 4 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 p0071 "Armadillo repeat containing|p120 catenin family" "409|1539" 1998-10-14 2014-11-19 8502 ENSG00000144283 OTTHUMG00000153969 uc002tzv.4 X81889 NM_001005476 "CCDS33306|CCDS33305" Q99569 "9342840|8937994" MGI:109281 RGD:1307840 604276 HGNC:9026 "ENST00000389759.8|NM_003628.6" +HGNC:52580 PKP4-AS1 PKP4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.1 02q24.1 Antisense RNAs 1987 2016-11-08 2016-11-08 2016-11-08 100129029 ENSG00000204380 OTTHUMG00000153965 NR_135242 HGNC:52580 +HGNC:42661 PKP4P1 plakophilin 4 pseudogene 1 pseudogene pseudogene Approved 2q34 02q34 2011-08-12 2011-08-12 402116 ENSG00000229670 OTTHUMG00000155516 NG_021602 PGOHUM00000241096 HGNC:42661 +HGNC:17661 PLA1A phospholipase A1 member A protein-coding gene gene with protein product Approved 3q13.33 03q13.33 ps-PLA1 Phospholipases 467 2002-11-28 2016-10-05 51365 ENSG00000144837 OTTHUMG00000159425 uc003ecu.4 AF035268 NM_001206960 "CCDS56269|CCDS2991|CCDS56268|CCDS77795" Q53H76 10196188 MGI:1934677 RGD:621261 607460 HGNC:17661 "ENST00000273371.9|NM_015900.4" +HGNC:9030 PLA2G1B phospholipase A2 group IB protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "PLA2|PPLA2|PLA2A" phospholipase A2, group IB (pancreas) Phospholipases 467 1986-01-01 2015-11-18 2015-11-18 5319 ENSG00000170890 OTTHUMG00000169343 uc001tyd.3 NM_000928 CCDS9195 P04054 8175726 MGI:101842 RGD:61949 172410 objectId:1416 3.1.1.4 HGNC:9030 "ENST00000308366.9|NM_000928.3" +HGNC:9031 PLA2G2A phospholipase A2 group IIA protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "PLA2B|PLA2L" phospholipase A2, group IIA (platelets, synovial fluid) Phospholipases 467 1989-04-24 2015-11-18 2016-10-05 5320 ENSG00000188257 OTTHUMG00000002699 uc001bcv.4 BC005919 NM_000300 CCDS201 P14555 8838795 MGI:104642 RGD:620857 172411 objectId:1417 3.1.1.4 HGNC:9031 HGNC:9031 +HGNC:9032 PLA2G2C phospholipase A2 group IIC protein-coding gene gene with protein product Approved 1p36.12 01p36.12 UBXN10-AS1 "phospholipase A2, group IIC (possible pseudogene)|phospholipase A2, group IIC|UBXN10 antisense RNA 1" Phospholipases 467 1998-09-07 2015-11-18 2020-05-22 391013 ENSG00000187980 OTTHUMG00000002705 uc009vpq.1 NM_001367969 Q5R387 8838795 MGI:106638 RGD:3340 HGNC:9032 "ENST00000679259.1|NM_001367969.2" +HGNC:9033 PLA2G2D phospholipase A2 group IID protein-coding gene gene with protein product Approved 1p36.12 01p36.12 sPLA2S phospholipase A2, group IID Phospholipases 467 1999-11-19 2015-11-18 2015-11-18 26279 ENSG00000117215 OTTHUMG00000002701 uc001bcz.5 AF112982 NM_001271814 "CCDS72721|CCDS203" Q9UNK4 10455175 MGI:1341796 RGD:1309862 605630 objectId:1418 3.1.1.4 HGNC:9033 "ENST00000375105.8|NM_012400.4" +HGNC:13414 PLA2G2E phospholipase A2 group IIE protein-coding gene gene with protein product Approved 1p36.13 01p36.13 phospholipase A2, group IIE Phospholipases 467 2004-01-13 2015-11-18 2015-11-18 30814 ENSG00000188784 OTTHUMG00000002702 uc001bct.2 AF189279 NM_014589 CCDS200 Q9NZK7 "10681567|11922621" MGI:1349660 RGD:1309611 618320 objectId:1419 3.1.1.4 HGNC:13414 "ENST00000375116.3|NM_014589.3" +HGNC:30040 PLA2G2F phospholipase A2 group IIF protein-coding gene gene with protein product Approved 1p36.12 01p36.12 phospholipase A2, group IIF Phospholipases 467 2004-01-13 2015-11-18 2016-10-05 64600 ENSG00000158786 OTTHUMG00000002704 uc009vpp.2 AL158172 NM_022819 CCDS204 Q9BZM2 11112443 MGI:1349661 RGD:1597305 616793 objectId:1420 3.1.1.4 HGNC:30040 "ENST00000375102.4|NM_022819.4" +HGNC:17934 PLA2G3 phospholipase A2 group III protein-coding gene gene with protein product Approved 22q12.2 22q12.2 GIII-SPLA2 phospholipase A2, group III Phospholipases 467 2002-04-29 2015-11-18 2015-11-18 50487 ENSG00000100078 OTTHUMG00000151255 uc003aka.4 AF220490 NM_015715 CCDS13889 Q9NZ20 10713052 MGI:2444945 RGD:1305323 611651 objectId:1421 3.1.1.4 HGNC:17934 "ENST00000215885.4|NM_015715.5" +HGNC:9035 PLA2G4A phospholipase A2 group IVA protein-coding gene gene with protein product Approved 1q31.1 01q31.1 cPLA2-alpha PLA2G4 phospholipase A2, group IVA (cytosolic, calcium-dependent) "Phospholipases|C2 domain containing phospholipases" "467|832" 1994-11-30 2015-11-18 2021-04-13 5321 ENSG00000116711 OTTHUMG00000035512 uc001gsc.4 M72393 NM_024420 CCDS1372 P47712 8175726 MGI:1195256 RGD:67366 LRG_596|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_596.xml 600522 476850 objectId:1424 "3.1.1.4|3.1.1.5" HGNC:9035 "ENST00000367466.4|NM_024420.3" HGNC:9035 +HGNC:9036 PLA2G4B phospholipase A2 group IVB protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "cPLA2-beta|HsT16992" phospholipase A2, group IVB (cytosolic) "Phospholipases|C2 domain containing phospholipases" "467|832" 1998-11-20 2015-11-18 2016-10-05 100137049 ENSG00000243708 OTTHUMG00000156809 uc059iba.1 AF065215 NM_001114633 CCDS45241 P0C869 9705332 MGI:2384819 RGD:1308658 606088 objectId:1425 3.1.1.4 HGNC:9036 "ENST00000458483.4|NM_001114633.2" +HGNC:9037 PLA2G4C phospholipase A2 group IVC protein-coding gene gene with protein product Approved 19q13.33 19q13.33 cPLA2-gamma phospholipase A2, group IVC (cytosolic, calcium-independent) Phospholipases 467 1998-11-20 2015-11-18 2016-10-05 8605 ENSG00000105499 OTTHUMG00000183185 uc002phx.4 AF065214 NM_001159322 "CCDS54286|CCDS12710|CCDS59403" Q9UP65 9705332 MGI:1196403 RGD:1594658 603602 objectId:1426 3.1.1.4 HGNC:9037 "ENST00000599921.6|NM_003706.3" +HGNC:51585 PLA2G4C-AS1 PLA2G4C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 Antisense RNAs 1987 2015-03-11 2015-03-11 106144526 ENSG00000269420 OTTHUMG00000183186 "AA318256|BU736556|EL953961" NR_132363 PLA2G4C-AS1 HGNC:51585 +HGNC:30038 PLA2G4D phospholipase A2 group IVD protein-coding gene gene with protein product Approved 15q15.1 15q15.1 cPLA2delta phospholipase A2, group IVD (cytosolic) "Phospholipases|C2 domain containing phospholipases" "467|832" 2004-02-04 2015-11-18 2020-04-01 283748 ENSG00000159337 OTTHUMG00000172587 uc001zox.3 AB090876 NM_178034 CCDS32203 Q86XP0 14709560 MGI:1925640 RGD:1593372 612864 objectId:1427 3.1.1.4 HGNC:30038 "ENST00000290472.4|NM_178034.4" +HGNC:24791 PLA2G4E phospholipase A2 group IVE protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ45651 phospholipase A2, group IVE "Phospholipases|C2 domain containing phospholipases" "467|832" 2005-11-04 2015-11-18 2015-11-18 123745 ENSG00000188089 OTTHUMG00000130371 uc021sjp.2 NM_198442 CCDS55962 Q3MJ16 15866882 MGI:1919144 RGD:1310595 objectId:1428 3.1.1.4 HGNC:24791 +HGNC:51419 PLA2G4E-AS1 PLA2G4E antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 Antisense RNAs 1987 2014-11-21 2014-11-21 101928388 ENSG00000246740 OTTHUMG00000169509 BC043275 NR_120334 PLA2G4E-AS1 HGNC:51419 +HGNC:27396 PLA2G4F phospholipase A2 group IVF protein-coding gene gene with protein product Approved 15q15.1 15q15.1 PLA2G4F/Z phospholipase A2, group IVF "Phospholipases|C2 domain containing phospholipases" "467|832" 2005-11-04 2015-11-18 2020-04-01 255189 ENSG00000168907 OTTHUMG00000172782 uc001zoz.4 NM_213600 CCDS32204 Q68DD2 "14702039|15866882" MGI:2685493 RGD:1593370 objectId:1429 3.1.1.4 HGNC:27396 "ENST00000397272.7|NM_213600.4" +HGNC:9038 PLA2G5 phospholipase A2 group V protein-coding gene gene with protein product Approved 1p36.13 01p36.13 phospholipase A2, group V Phospholipases 467 1994-11-30 2015-11-18 2016-10-05 5322 ENSG00000127472 OTTHUMG00000002698 uc001bcy.4 U03090 NM_000929 CCDS202 P39877 "8838795|8300559" MGI:101899 RGD:62051 601192 286639 objectId:1430 3.1.1.4 HGNC:9038 "ENST00000375108.4|NM_000929.3" HGNC:9038 +HGNC:9039 PLA2G6 phospholipase A2 group VI protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "iPLA2|PNPLA9|PARK14|iPLA2beta|NBIA2" neurodegeneration with brain iron accumulation 2 phospholipase A2, group VI (cytosolic, calcium-independent) "Ankyrin repeat domain containing|Patatin like phospholipase domain containing|Phospholipases" "403|466|467" 1998-09-07 2015-11-18 2021-04-13 8398 ENSG00000184381 OTTHUMG00000151246 uc003auy.2 AF064594 NM_001004426 "CCDS33645|CCDS13967" O60733 "9417066|16799181|19029121" MGI:1859152 RGD:628867 LRG_1015|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1015.xml 603604 117873 objectId:1431 3.1.1.4 HGNC:9039 "ENST00000332509.8|NM_003560.4" HGNC:9039 +HGNC:9040 PLA2G7 phospholipase A2 group VII protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "PAFAH|LDL-PLA2" phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) Phospholipases 467 1999-09-20 2015-11-18 2016-10-05 7941 ENSG00000146070 OTTHUMG00000014789 uc021zae.2 U20157 NM_001168357 CCDS4917 Q13093 "7700381|8624782" MGI:1351327 RGD:1310734 601690 objectId:1432 3.1.1.4 HGNC:9040 "ENST00000274793.12|NM_005084.4" +HGNC:9029 PLA2G10 phospholipase A2 group X protein-coding gene gene with protein product Approved 16p13.12 16p13.12 GXPLA2 phospholipase A2, group X Phospholipases 467 1998-09-07 2015-11-18 2016-10-05 8399 ENSG00000069764 OTTHUMG00000048069 uc002dcq.4 U95301 NM_003561 CCDS10555 O15496 9188469 MGI:1347522 RGD:61935 603603 objectId:1422 3.1.1.4 HGNC:9029 "ENST00000438167.8|NM_003561.3" +HGNC:18554 PLA2G12A phospholipase A2 group XIIA protein-coding gene gene with protein product Approved 4q25 04q25 PLA2G12 "phospholipase A2, group XII|phospholipase A2, group XIIA" Phospholipases 467 2002-04-26 2004-01-14 2015-11-18 2015-11-18 81579 ENSG00000123739 OTTHUMG00000131915 uc003hzp.4 NM_030821 CCDS3686 Q9BZM1 11031251 MGI:1913600 RGD:1304662 611652 objectId:1423 3.1.1.4 HGNC:18554 "ENST00000243501.10|NM_030821.5" +HGNC:39248 PLA2G12AP1 phospholipase A2 group XIIA pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 phospholipase A2, group XIIA pseudogene 1 2010-11-24 2015-11-18 2015-11-18 100420258 ENSG00000224680 OTTHUMG00000008103 NG_027094 PGOHUM00000244721 HGNC:39248 +HGNC:39249 PLA2G12AP2 phospholipase A2 group XIIA pseudogene 2 pseudogene pseudogene Approved 13q13.3 13q13.3 phospholipase A2, group XIIA pseudogene 2 2010-11-24 2015-11-18 2015-11-18 100420281 ENSG00000225221 OTTHUMG00000016761 NG_024917 PGOHUM00000248570 HGNC:39249 +HGNC:18555 PLA2G12B phospholipase A2 group XIIB protein-coding gene gene with protein product Approved 10q22.1 10q22.1 PLA2G13 "phospholipase A2, group XIII|phospholipase A2, group XIIB" Phospholipases 467 2002-04-26 2004-01-14 2015-11-18 2015-11-18 84647 ENSG00000138308 OTTHUMG00000018446 uc001jtf.2 AF349540 NM_032562 CCDS7319 Q9BX93 MGI:1917086 RGD:1588484 611653 3.1.1.4 HGNC:18555 "ENST00000373032.4|NM_032562.5" +HGNC:17163 PLA2G15 phospholipase A2 group XV protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "LLPL|GXVPLA2" LYPLA3 "lysophospholipase 3 (lysosomal phospholipase A2)|phospholipase A2, group XV" Phospholipases 467 2002-01-23 2008-09-19 2015-11-18 2015-11-18 23659 ENSG00000103066 OTTHUMG00000137554 uc002evr.4 AB017494 NM_012320 CCDS10864 Q8NCC3 "10092508|16973413" MGI:2178076 RGD:1302982 609362 HGNC:17163 "ENST00000219345.10|NM_012320.4" +HGNC:9042 PLA2R1 phospholipase A2 receptor 1 protein-coding gene gene with protein product Approved 2q23-q24 02q23-q24 "PLA2G1R|PLA2IR|PLA2-R|CLEC13C" "phospholipase A2 receptor 1, 180kD|phospholipase A2 receptor 1, 180kDa" C-type lectin domain containing 1298 1999-10-05 2015-11-09 2015-11-09 22925 ENSG00000153246 OTTHUMG00000154087 uc002ube.3 U17033 NM_001007267 "CCDS33309|CCDS42767" Q13018 "7721806|7925459" MGI:102468 RGD:1309777 604939 HGNC:9042 "ENST00000283243.13|NM_007366.5" +HGNC:9043 PLAA phospholipase A2 activating protein protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "PLAP|PLA2P|FLJ11281|FLJ12699|DOA1" DOA1 homolog (S. cerevisiae) "WD repeat domain containing|Armadillo like helical domain containing" "362|1492" 1999-04-15 2016-02-12 2016-10-05 9373 ENSG00000137055 OTTHUMG00000019708 uc003zqd.4 AF083395 NM_001031689 CCDS35000 Q9Y263 "9931468|10644453" MGI:104810 RGD:621245 603873 HGNC:9043 "ENST00000397292.8|NM_001031689.3" HGNC:9043 +HGNC:14922 PLAAT1 phospholipase A and acyltransferase 1 protein-coding gene gene with protein product Approved 3q29 03q29 "H-REV107|HRASLS1|A-C1|PLA/AT1|PLAAT-1" phospholipase A/acyltransferase 1 HRASLS HRAS like suppressor Phospholipase A and acyltransferase family 1227 2001-04-10 2019-02-14 2019-02-14 2019-02-14 57110 ENSG00000127252 OTTHUMG00000156104 uc003fta.5 AB030816 NM_001366112 CCDS3303 Q9HDD0 21880860 MGI:1351473 RGD:1309485 606487 "2.3.1.-|3.1.1.-" HGNC:14922 "ENST00000264735.4|NM_020386.5" +HGNC:17824 PLAAT2 phospholipase A and acyltransferase 2 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FLJ20556|PLAAT-2" phospholipase A/acyltransferase‐2 HRASLS2 HRAS like suppressor 2 Phospholipase A and acyltransferase family 1227 2002-01-29 2019-02-14 2019-02-14 2019-02-14 54979 ENSG00000133328 OTTHUMG00000167851 uc001nxg.1 NM_017878 CCDS8046 Q9NWW9 613866 HGNC:17824 "ENST00000255695.2|NM_017878.2" +HGNC:17825 PLAAT3 phospholipase A and acyltransferase 3 protein-coding gene gene with protein product Approved 11q12.3-q13.1 11q12.3-q13.1 "HREV107|H-REV107-1|HREV107-3|MGC118754.|AdPLA|PLAAT-3" "adipose-specific PLA2|phospholipase A/acyltransferase‐3" "HRASLS3|PLA2G16" "HRAS-like suppressor 3|phospholipase A2, group XVI|phospholipase A2 group XVI" "Phospholipases|Phospholipase A and acyltransferase family" "467|1227" 2002-01-29 2019-02-14 2019-02-14 2019-02-14 11145 ENSG00000176485 OTTHUMG00000167852 uc001nxh.4 X92814 NM_001128203 CCDS8047 P53816 "9771974|18614531" MGI:2179715 RGD:2829 613867 3.1.1.4 HGNC:17825 "ENST00000415826.3|NM_001128203.2" +HGNC:9869 PLAAT4 phospholipase A and acyltransferase 4 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "TIG3|HRASLS4|PLAAT-4|RIG1" "phospholipase A/acyltransferase‐4|Retinoid-inducible gene 1" RARRES3 "retinoic acid receptor responder (tazarotene induced) 3|retinoic acid receptor responder 3" Phospholipase A and acyltransferase family 1227 1998-02-03 2019-02-14 2019-02-14 2019-02-14 5920 ENSG00000133321 OTTHUMG00000167850 uc001nxf.5 NM_004585 CCDS41662 Q9UL19 "9270552|22616991" 605092 HGNC:9869 "ENST00000255688.8|NM_004585.5" +HGNC:24978 PLAAT5 phospholipase A and acyltransferase 5 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "HRLP5|iNAT|PLAAT-5" "Ca(2+)-independent N-acyltransferase|H-rev107-like protein 5|phospholipase A/acyltransferase‐5" HRASLS5 "HRAS-like suppressor family, member 5|HRAS like suppressor family member 5" Phospholipase A and acyltransferase family 1227 2005-11-14 2019-02-14 2019-02-14 2019-02-14 117245 ENSG00000168004 OTTHUMG00000167806 uc001nwy.3 AJ416558 NM_054108 "CCDS8044|CCDS53647|CCDS53646" Q96KN8 19000777 MGI:1913977 RGD:1308376 611474 2.3.1.- HGNC:24978 "ENST00000540857.6|NM_001146729.2" +HGNC:9044 PLAC1 placenta enriched 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "CT92|OOSP2L|OOSP2B" cancer/testis antigen 92 placenta specific 1 OOSP family 1631 1998-12-10 2019-02-21 2019-03-04 10761 ENSG00000170965 OTTHUMG00000022457 uc004exo.2 AF234654 NM_021796 CCDS14642 Q9HBJ0 10995572 MGI:1926287 RGD:1563777 300296 HGNC:9044 "ENST00000359237.9|NM_021796.4" +HGNC:14616 PLAC4 placenta enriched 4 non-coding RNA RNA, long non-coding Approved 21q22.2 21q22.2 "MGC126664|MGC126666|PRED78" C21orf115 "chromosome 21 open reading frame 115|placenta specific 4" Long non-coding RNAs with non-systematic symbols 1992 2002-04-03 2019-02-21 2021-03-03 191585 ENSG00000280109 OTTHUMG00000086743 uc002yyz.4 BG354570 NR_148920 Q8WY50 "8406465|23312075" 613770 HGNC:14616 +HGNC:19254 PLAC8 placenta associated 8 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "onzin|C15" placenta specific 8 2002-09-24 2019-02-21 2020-05-15 51316 ENSG00000145287 OTTHUMG00000130294 uc062xvn.1 AF208846 NM_016619 CCDS3601 Q9NZF1 "12758124|12384430|29361555" MGI:2445289 RGD:1308102 607515 HGNC:19254 "ENST00000311507.9|NM_016619.3" +HGNC:31746 PLAC8L1 PLAC8 like 1 protein-coding gene gene with protein product Approved 5q32 05q32 2004-07-12 2016-06-23 2018-11-16 153770 ENSG00000173261 OTTHUMG00000163418 uc003lnv.4 NM_001029869 CCDS34264 A1L4L8 MGI:1916651 RGD:1588513 HGNC:31746 "ENST00000311450.9|NM_001029869.3" +HGNC:19255 PLAC9 placenta associated 9 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 placenta specific 9 2002-09-24 2019-02-21 2019-10-25 219348 ENSG00000189129 OTTHUMG00000018596 uc001kbp.2 NM_001012973 "CCDS86126|CCDS31232" Q5JTB6 30291214 "MGI:2663998|MGI:3711222" RGD:1306662 612857 HGNC:19255 "ENST00000372263.4|NM_001012973.3" +HGNC:52678 PLAC9P1 placenta associated 9 pseudogene 1 pseudogene pseudogene Approved 2q21.1 02q21.1 placenta specific 9 pseudogene 1 2016-12-01 2019-02-21 2019-02-21 389033 ENSG00000214100 OTTHUMG00000153486 NR_026740 HGNC:52678 +HGNC:9045 PLAG1 PLAG1 zinc finger protein-coding gene gene with protein product Approved 8q12.1 08q12.1 ZNF912 pleiomorphic adenoma gene 1 Zinc fingers C2H2-type 28 1998-02-11 2015-12-16 2021-05-26 5324 ENSG00000181690 OTTHUMG00000164310 uc003xsr.5 U65002 NM_002655 "CCDS47860|CCDS6165" Q6DJT9 9268638 MGI:1891916 RGD:1305286 PLAG1 603026 458247 HGNC:9045 "ENST00000316981.8|NM_002655.3" +HGNC:9046 PLAGL1 PLAG1 like zinc finger 1 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "ZAC|LOT1" pleiomorphic adenoma gene-like 1 Zinc fingers C2H2-type 28 1998-02-17 2015-12-16 2021-04-13 5325 ENSG00000118495 OTTHUMG00000015738 uc003qkj.5 U81992 NM_001080951 "CCDS5202|CCDS5203" Q9UM63 "9722527|9671765" MGI:1100874 RGD:3014 LRG_1101|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1101.xml 603044 159813 HGNC:9046 "ENST00000674357.1|NM_001317162.2" HGNC:9046 +HGNC:9047 PLAGL2 PLAG1 like zinc finger 2 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 ZNF900 C2H2-type zinc finger protein pleiomorphic adenoma gene-like 2 Zinc fingers C2H2-type 28 1998-02-17 2015-12-16 2021-04-27 5326 ENSG00000126003 OTTHUMG00000032210 uc002wxn.3 NM_002657 CCDS13197 Q9UPG8 "15585652|17950244" MGI:1933165 RGD:1307999 604866 HGNC:9047 "ENST00000246229.5|NM_002657.3" +HGNC:9051 PLAT plasminogen activator, tissue type protein-coding gene gene with protein product Approved 8p11.21 08p11.21 plasminogen activator, tissue 2001-06-22 2016-01-11 2021-04-13 5327 ENSG00000104368 OTTHUMG00000164072 uc003xos.3 NM_000930 "CCDS6127|CCDS83291|CCDS6126" P00750 MGI:97610 RGD:3342 LRG_570|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_570.xml 173370 S01.232 objectId:2392 HGNC:9051 "ENST00000220809.9|NM_000930.5" HGNC:9051 +HGNC:9052 PLAU plasminogen activator, urokinase protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "URK|UPA" 2001-06-22 2021-04-13 5328 ENSG00000122861 OTTHUMG00000018494 uc001jwa.4 BC013575 NM_002658 "CCDS7339|CCDS44442" P00749 2415429 MGI:97611 RGD:3343 LRG_593|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_593.xml 191840 223447 S01.231 objectId:2393 3.4.21.68 HGNC:9052 "ENST00000372764.4|NM_002658.6" HGNC:9052 +HGNC:9053 PLAUR plasminogen activator, urokinase receptor protein-coding gene gene with protein product Approved 19q13 19q13 "URKR|UPAR|CD87" "urokinase-type plasminogen activator (uPA) receptor|urokinase plasminogen activator surface receptor" "CD molecules|LY6/PLAUR domain containing" "471|1226" 1991-06-05 2021-04-13 5329 ENSG00000011422 OTTHUMG00000182778 uc002oxf.3 NM_002659 "CCDS12628|CCDS33042|CCDS74386|CCDS33041" Q03405 MGI:97612 RGD:620597 LRG_637|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_637.xml 173391 CD87 HGNC:9053 "ENST00000340093.8|NM_002659.4" +HGNC:30041 PLB1 phospholipase B1 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "PLB|FLJ30866" Phospholipases 467 2004-01-29 2016-10-05 151056 ENSG00000163803 OTTHUMG00000152014 uc002rmb.3 NM_001170585 "CCDS33168|CCDS54340" Q6P1J6 12150957 MGI:1922406 RGD:621565 610179 "3.1.1.4|3.1.1.5" HGNC:30041 "ENST00000327757.10|NM_153021.5" +HGNC:26215 PLBD1 phospholipase B domain containing 1 protein-coding gene gene with protein product Approved 12p13.1 12p13.1 FLJ22662 PLB homolog 1 (Dictyostelium) 2009-02-24 2014-11-18 79887 ENSG00000121316 OTTHUMG00000168821 uc001rcc.2 BC000909 NM_024829 CCDS31751 Q6P4A8 "15193148|19019078" MGI:1914107 RGD:1308734 618486 HGNC:26215 "ENST00000240617.10|NM_024829.6" +HGNC:51143 PLBD1-AS1 PLBD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.1-p12.3 12p13.1-p12.3 Antisense RNAs 1987 2014-07-30 2018-02-13 101928290 ENSG00000256751 OTTHUMG00000168733 NR_120465 PLBD1-AS1 HGNC:51143 +HGNC:27283 PLBD2 phospholipase B domain containing 2 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 p76 "PLB homolog 2 (Dictyostelium)|mannose-6-phosphate protein associated protein p76" 2009-02-24 2016-11-09 196463 ENSG00000151176 OTTHUMG00000169567 uc001tve.3 BC030618 NM_173542 "CCDS53834|CCDS9168" Q8NHP8 "17105447|15193148|19019078" MGI:1919022 RGD:708461 C95.001 HGNC:27283 "ENST00000280800.5|NM_173542.4" +HGNC:15917 PLCB1 phospholipase C beta 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "KIAA0581|PLC-I|PLC154" phosphoinositide phospholipase C phospholipase C, beta 1 (phosphoinositide-specific) "Phospholipases|C2 domain containing phospholipases" "467|832" 2001-06-21 2015-11-18 2021-05-26 23236 ENSG00000182621 OTTHUMG00000031849 uc002wnb.5 AB011153 NM_015192 "CCDS13103|CCDS13102" Q9NQ66 "10760467|11118617" MGI:97613 RGD:3344 607120 258534 objectId:1403 3.1.4.11 HGNC:15917 "ENST00000338037.11|NM_015192.4" HGNC:15917 +HGNC:41414 PLCB1-IT1 PLCB1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 PLCB1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2012-01-20 2015-02-25 2015-02-25 100874337 ENSG00000225479 OTTHUMG00000031846 uc061vib.1 NR_046809 PLCB1-IT1 HGNC:41414 +HGNC:9055 PLCB2 phospholipase C beta 2 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 FLJ38135 phospholipase C, beta 2 "Phospholipases|C2 domain containing phospholipases" "467|832" 1994-05-16 2015-11-18 2015-11-18 5330 ENSG00000137841 OTTHUMG00000172412 uc001zld.4 NM_001284297 "CCDS73704|CCDS61592|CCDS42020|CCDS61591" Q00722 "1644792|9925923" MGI:107465 RGD:621004 604114 objectId:1404 3.1.4.11 HGNC:9055 "ENST00000260402.8|NM_004573.3" +HGNC:43662 PLCB2-AS1 PLCB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 PLCB2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2015-11-18 100874186 ENSG00000259307 OTTHUMG00000172413 uc059hrb.1 PLCB2-AS1 +HGNC:9056 PLCB3 phospholipase C beta 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 phospholipase C, beta 3 (phosphatidylinositol-specific) "Phospholipases|C2 domain containing phospholipases" "467|832" 1994-11-17 2015-11-18 2021-05-26 5331 ENSG00000149782 OTTHUMG00000167816 uc009ypi.4 Z26649 NM_000932 "CCDS53654|CCDS8064" Q01970 7849701 MGI:104778 RGD:61993 600230 objectId:1405 3.1.4.11 HGNC:9056 "ENST00000279230.12|NM_000932.5" HGNC:9056 +HGNC:9059 PLCB4 phospholipase C beta 4 protein-coding gene gene with protein product Approved 20p12.3-p12.2 20p12.3-p12.2 phospholipase C, beta 4 "Phospholipases|C2 domain containing phospholipases" "467|832" 1995-04-13 2015-11-18 2021-05-26 5332 ENSG00000101333 OTTHUMG00000031853 uc021wam.2 NM_000933 "CCDS13104|CCDS54447|CCDS13105" Q15147 8530101 MGI:107464 RGD:3345 600810 302923 objectId:1406 3.1.4.11 HGNC:9059 "ENST00000378473.9|NM_001377142.1" HGNC:9059 +HGNC:9060 PLCD1 phospholipase C delta 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1|Phospholipase C δ1" phospholipase C, delta 1 "Phospholipases|C2 domain containing phospholipases|EF-hand domain containing" "467|832|863" 1997-05-09 2015-11-17 2021-05-26 5333 ENSG00000187091 OTTHUMG00000130813 uc003chn.4 NM_001130964 "CCDS46793|CCDS2671" P51178 9345909 MGI:97614 RGD:3346 602142 270352 objectId:1409 3.1.4.11 HGNC:9060 "ENST00000334661.5|NM_006225.4" HGNC:9060 +HGNC:9061 PLCD3 phospholipase C delta 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 phospholipase C, delta 3 "Phospholipases|C2 domain containing phospholipases|MicroRNA protein coding host genes" "467|832|1691" 2000-05-31 2015-11-18 2016-10-05 113026 ENSG00000161714 OTTHUMG00000168029 uc032fjs.2 AC002117 NM_133373 CCDS74077 Q8N3E9 "10702670|9056492" MGI:107451 RGD:1310903 608795 objectId:1410 3.1.4.11 HGNC:9061 "ENST00000619929.5|NM_133373.5" +HGNC:9062 PLCD4 phospholipase C delta 4 protein-coding gene gene with protein product Approved 2q35 02q35 phospholipase C, delta 4 "Phospholipases|C2 domain containing phospholipases|EF-hand domain containing" "467|832|863" 2000-05-31 2015-11-18 2015-11-18 84812 ENSG00000115556 OTTHUMG00000154743 uc061smf.1 AI366170 NM_032726 CCDS46516 Q9BRC7 "10702683|9056492" MGI:107469 RGD:621025 605939 objectId:1411 3.1.4.11 HGNC:9062 "ENST00000450993.7|NM_032726.4" +HGNC:17175 PLCE1 phospholipase C epsilon 1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "KIAA1516|PLCE|NPHS3" "nephrosis type 3|phosphoinositide phospholipase C" phospholipase C, epsilon 1 "Phospholipases|C2 domain containing phospholipases" "467|832" 2002-02-18 2015-11-18 2021-05-26 51196 ENSG00000138193 OTTHUMG00000018789 uc001kjk.4 NM_016341 "CCDS53555|CCDS41552" Q9P212 "11022047|11022048" MGI:1921305 RGD:69424 608414 159233 objectId:1412 3.1.4.11 HGNC:17175 "ENST00000371380.8|NM_016341.4" HGNC:17175 +HGNC:45193 PLCE1-AS1 PLCE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.33 10q23.33 Antisense RNAs 1987 2013-03-06 2013-03-06 100128054 ENSG00000268894 OTTHUMG00000018787 uc057uyv.1 NR_033969 PLCE1-AS1 HGNC:45193 +HGNC:51206 PLCE1-AS2 PLCE1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10q23.33 10q23.33 Antisense RNAs 1987 2014-08-07 2014-08-07 101927049 ENSG00000232913 OTTHUMG00000018783 AK098548 NR_120615 PLCE1-AS2 HGNC:51206 +HGNC:51906 PLCE1P1 phospholipase C epsilon 1 pseudogene 1 pseudogene pseudogene Approved Xp21.2 Xp21.2 phospholipase C, epsilon 1 pseudogene 1 2015-09-21 2015-11-18 2015-11-18 100420075 ENSG00000276940 OTTHUMG00000188010 NG_026667 PGOHUM00000304544 HGNC:51906 +HGNC:9065 PLCG1 phospholipase C gamma 1 protein-coding gene gene with protein product Approved 20q12 20q12 "PLC148|PLC-II|PLCgamma1|NCKAP3" PLC1 "phospholipase C, gamma 1 (formerly subtype 148)|phospholipase C, gamma 1" "Phospholipases|Pleckstrin homology domain containing|SH2 domain containing|C2 domain containing phospholipases|EF-hand domain containing|MicroRNA protein coding host genes" "467|682|741|832|863|1691" 1989-05-31 2015-11-18 2016-10-05 5335 ENSG00000124181 OTTHUMG00000033082 uc002xjo.2 M34667 NM_182811 "CCDS13313|CCDS13314" P19174 "2167438|3254788" MGI:97615 RGD:3347 PLCG1 172420 objectId:1407 3.1.4.11 HGNC:9065 "ENST00000685551.1|NM_002660.3" +HGNC:40450 PLCG1-AS1 PLCG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q12 20q12 TOP1-AS1 Antisense RNAs 1987 2014-06-13 2014-11-19 101927117 ENSG00000226648 OTTHUMG00000032476 NR_109889 PLCG1-AS1 HGNC:40450 +HGNC:9066 PLCG2 phospholipase C gamma 2 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 phospholipase C, gamma 2 (phosphatidylinositol-specific) "Phospholipases|SH2 domain containing|C2 domain containing phospholipases" "467|741|832" 1994-05-16 2015-11-18 2021-05-26 5336 ENSG00000197943 OTTHUMG00000176532 uc002fgt.4 NM_002661 CCDS42204 P16885 7835906 MGI:97616 RGD:3348 LRG_376|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_376.xml 600220 303819 objectId:1408 3.1.4.11 HGNC:9066 "ENST00000564138.6|NM_002661.5" HGNC:9066 +HGNC:29185 PLCH1 phospholipase C eta 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "KIAA1069|MGC117152|DKFZp434C1372|PLCeta1" 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 PLCL3 "phospholipase C-like 3|phospholipase C, eta 1" "Phospholipases|C2 domain containing phospholipases|EF-hand domain containing" "467|832|863" 2004-07-28 2006-03-16 2015-11-17 2016-10-05 23007 ENSG00000114805 OTTHUMG00000158477 uc062pfi.1 AB028992 NM_014996 "CCDS46940|CCDS46939|CCDS33881" Q4KWH8 15702972 MGI:2683547 RGD:1561991 612835 objectId:1414 3.1.4.11 HGNC:29185 "ENST00000460012.7|NM_014996.4" +HGNC:41231 PLCH1-AS1 PLCH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 PLCH1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874035 ENSG00000239508 OTTHUMG00000158476 uc062pfh.1 NR_046746 PLCH1-AS1 HGNC:41231 +HGNC:41232 PLCH1-AS2 PLCH1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 PLCH1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-19 100874036 ENSG00000242925 OTTHUMG00000158497 uc062pfm.1 NR_146955 PLCH1-AS2 HGNC:41232 +HGNC:29037 PLCH2 phospholipase C eta 2 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "KIAA0450|PLCeta2|RP3-395M20.1|PLC-eta2" 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 PLCL4 "phospholipase C-like 4|phospholipase C, eta 2" "Phospholipases|EF-hand domain containing" "467|863" 2004-07-28 2006-03-16 2015-11-17 2015-11-17 9651 ENSG00000149527 OTTHUMG00000000719 uc057bmp.1 AB007919 NM_014638 CCDS59959 O75038 15899900 MGI:2443078 RGD:1304675 612836 objectId:1415 3.1.4.11 HGNC:29037 "ENST00000378486.8|NM_014638.4" +HGNC:9063 PLCL1 phospholipase C like 1 (inactive) protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "PLC-L|PLCL|PRIP|PPP1R127" "phospholipase C related, but catalytically inactive protein|protein phosphatase 1, regulatory subunit 127" PLCE "phospholipase C, epsilon|phospholipase C-like 1|phospholipase C like 1" "Protein phosphatase 1 regulatory subunits|C2 domain containing phospholipases" "694|832" 1995-12-12 2002-02-22 2017-05-12 2017-05-12 5334 ENSG00000115896 OTTHUMG00000132750 uc010fsp.4 D42108 NM_006226 CCDS2326 Q15111 7633416 MGI:3036262 RGD:708420 600597 HGNC:9063 "ENST00000428675.6|NM_006226.4" +HGNC:9064 PLCL2 phospholipase C like 2 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 KIAA1092 PLCE2 "phospholipase C, epsilon 2|phospholipase C-like 2" "C2 domain containing phospholipases|MicroRNA protein coding host genes" "832|1691" 2000-05-31 2002-02-22 2015-11-17 2015-11-17 23228 ENSG00000154822 OTTHUMG00000155467 uc011awd.3 AB029015 NM_001144382 "CCDS74911|CCDS33713" Q9UPR0 10470851 MGI:1352756 RGD:1305941 614276 HGNC:9064 "ENST00000615277.5|NM_001144382.2" +HGNC:40449 PLCL2-AS1 PLCL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 PLCL2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874003 ENSG00000226441 OTTHUMG00000155466 uc062hfq.1 NR_046640 PLCL2-AS1 +HGNC:23148 PLCXD1 phosphatidylinositol specific phospholipase C X domain containing 1 protein-coding gene gene with protein product Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 FLJ11323 phosphatidylinositol-specific phospholipase C, X domain containing 1 Pseudoautosomal region 1 715 2004-09-09 2016-01-27 2020-04-02 55344 ENSG00000182378 OTTHUMG00000022693 uc065clw.1 AK002185 NM_018390 CCDS14103 Q9NUJ7 MGI:2685422 RGD:1560935 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLCXD1 300974 HGNC:23148 "ENST00000381657.8|NM_018390.4" +HGNC:26462 PLCXD2 phosphatidylinositol specific phospholipase C X domain containing 2 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ31579 phosphatidylinositol-specific phospholipase C, X domain containing 2 2004-09-09 2016-01-27 2016-01-27 257068 ENSG00000240891 OTTHUMG00000159279 uc003dxz.3 AK056141 NM_153268 "CCDS2961|CCDS54619" Q0VAA5 MGI:3647874 RGD:1563504 617015 HGNC:26462 "ENST00000477665.2|NM_001185106.1" +HGNC:41145 PLCXD2-AS1 PLCXD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 PLCXD2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874115 ENSG00000240766 OTTHUMG00000159277 uc062mis.1 NR_046733 PLCXD2-AS1 HGNC:41145 +HGNC:31822 PLCXD3 phosphatidylinositol specific phospholipase C X domain containing 3 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 phosphatidylinositol-specific phospholipase C, X domain containing 3 2004-09-09 2016-01-27 2018-11-16 345557 ENSG00000182836 OTTHUMG00000162076 uc063dgi.1 NM_001005473 CCDS34150 Q63HM9 MGI:2442605 RGD:1308448 617016 HGNC:31822 "ENST00000377801.8|NM_001005473.3" +HGNC:19218 PLCZ1 phospholipase C zeta 1 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "NYD-SP27|PLCzeta" phospholipase C, zeta 1 "Phospholipases|C2 domain containing phospholipases|EF-hand domain containing" "467|832|863" 2002-09-13 2015-11-18 2016-10-05 89869 ENSG00000139151 OTTHUMG00000168937 uc058lrt.1 AY035866 NM_033123 "CCDS8680|CCDS81671" Q86YW0 12117804 MGI:2150308 RGD:1359567 608075 470886 objectId:1413 3.1.4.11 HGNC:19218 "ENST00000266505.12|NM_033123.4" +HGNC:9067 PLD1 phospholipase D1 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 choline phosphatase 1 phospholipase D1, phosphatidylcholine-specific "Phospholipases|Pleckstrin homology domain containing" "467|682" 1997-05-29 2015-11-18 2021-05-26 5337 ENSG00000075651 OTTHUMG00000156947 uc003fht.4 U38545 NM_002662 "CCDS46957|CCDS3216" Q13393 "9858822|8530346" MGI:109585 RGD:3349 602382 objectId:1433 3.1.4.4 HGNC:9067 "ENST00000351298.9|NM_002662.5" HGNC:9067 +HGNC:9068 PLD2 phospholipase D2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 choline phosphatase 2 Phospholipases 467 1998-08-21 2016-10-05 5338 ENSG00000129219 OTTHUMG00000090779 uc002fzc.4 AF035483 NM_002663 "CCDS58507|CCDS11057" O14939 "9858823|9582313" MGI:892877 RGD:3350 602384 objectId:1434 3.1.4.4 HGNC:9068 "ENST00000263088.11|NM_002663.5" +HGNC:17158 PLD3 phospholipase D family member 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 HU-K4 "phospholipase D3|phospholipase D family, member 3" "Phospholipases|MicroRNA protein coding host genes" "467|1691" 2003-01-06 2015-11-18 2015-11-18 23646 ENSG00000105223 OTTHUMG00000152736 uc060yrn.1 BC000553 NM_012268 CCDS33027 Q8IV08 "9140189|15794758" MGI:1333782 RGD:1308248 615698 478190 HGNC:17158 "ENST00000409735.9|NM_012268.4" HGNC:17158 +HGNC:23792 PLD4 phospholipase D family member 4 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 C14orf175 "chromosome 14 open reading frame 175|phospholipase D family, member 4" Phospholipases 467 2004-06-11 2005-05-20 2015-11-18 2015-11-18 122618 ENSG00000166428 OTTHUMG00000144167 uc001ypu.2 NM_138790 "CCDS76725|CCDS9995" Q96BZ4 MGI:2144765 RGD:1598308 618488 HGNC:23792 "ENST00000392593.9|NM_138790.5" +HGNC:26879 PLD5 phospholipase D family member 5 protein-coding gene gene with protein product Approved 1q43 01q43 FLJ40773 phospholipase D family, member 5 Phospholipases 467 2005-05-20 2015-11-18 2016-04-25 200150 ENSG00000180287 OTTHUMG00000039867 uc057qtq.1 AK098092 NM_152666 "CCDS1621|CCDS55692" Q8N7P1 MGI:2442056 RGD:1562609 HGNC:26879 "ENST00000536534.7|NM_001372062.1" +HGNC:55072 PLD5P1 PLD5 pseudogene 1 pseudogene pseudogene Approved 10p11.1 10p11.1 2020-06-11 2020-06-11 100420618 ENSG00000283930 NG_025485 +HGNC:30447 PLD6 phospholipase D family member 6 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 Zuc Zucchini endoribonuclease phospholipase D family, member 6 Phospholipases 467 2008-08-14 2015-11-18 2021-10-13 201164 ENSG00000179598 OTTHUMG00000059278 uc002gqz.4 AK090899 NM_178836 CCDS11182 Q8N2A8 28063496 MGI:2687283 RGD:1311987 614960 HGNC:30447 "ENST00000321560.4|NM_178836.4" +HGNC:9069 PLEC plectin protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "PCN|PLTN" "EBS1|PLEC1" "plectin 1, intermediate filament binding protein, 500kD|epidermolysis bullosa simplex 1 (Ogna)|plectin 1, intermediate filament binding protein 500kDa" "Plakins|MicroRNA protein coding host genes" "939|1691" 1997-08-22 2010-02-04 2010-02-04 2021-05-26 5339 ENSG00000178209 OTTHUMG00000165291 uc064rfy.1 U53204 NM_000445 "CCDS43770|CCDS43775|CCDS47936|CCDS43774|CCDS43773|CCDS43772|CCDS43769|CCDS43771" Q15149 "8633055|8696340" MGI:1277961 RGD:621649 601282 117877 HGNC:9069 "ENST00000345136.8|NM_201384.3" HGNC:9069 +HGNC:9070 PLEK pleckstrin protein-coding gene gene with protein product Approved 2p14 02p14 P47 Pleckstrin homology domain containing 682 1998-04-07 2016-10-05 5341 ENSG00000115956 OTTHUMG00000129562 uc002sen.5 X07743 NM_002664 CCDS1887 P08567 "2897630|12054651" MGI:1860485 RGD:1308269 173570 HGNC:9070 "ENST00000234313.8|NM_002664.3" +HGNC:19238 PLEK2 pleckstrin 2 protein-coding gene gene with protein product Approved 14q23.3-q24.1 14q23.3-q24.1 Pleckstrin homology domain containing 682 2002-09-16 2018-02-13 26499 ENSG00000100558 OTTHUMG00000171247 uc001xjh.2 AF228603 NM_016445 CCDS9782 Q9NYT0 "11911883|17658464" MGI:1351466 RGD:1305786 608007 HGNC:19238 "ENST00000216446.9|NM_016445.3" +HGNC:14335 PLEKHA1 pleckstrin homology domain containing A1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 TAPP1 tandem PH domain containing protein-1 "pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1" "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2001-02-09 2015-11-18 2016-10-05 59338 ENSG00000107679 OTTHUMG00000019184 uc001lge.3 AF286160 NM_001001974 "CCDS55730|CCDS7629|CCDS81517" Q9HB21 "11001876|15485858" MGI:2442213 RGD:1564153 607772 HGNC:14335 "ENST00000368990.8|NM_001001974.4" +HGNC:14336 PLEKHA2 pleckstrin homology domain containing A2 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 TAPP2 tandem PH Domain containing protein-2 "pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2" Pleckstrin homology domain containing 682 2001-02-09 2015-11-18 2016-11-01 59339 ENSG00000169499 OTTHUMG00000164069 uc033bis.2 AF286164 NM_021623 CCDS75732 Q9HB19 11001876 MGI:1928144 RGD:1586710 607773 HGNC:14336 "ENST00000617275.5|NM_021623.2" +HGNC:14338 PLEKHA3 pleckstrin homology domain containing A3 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 FAPP1 four-phosphate-adaptor protein 1 "pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3|pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3" Pleckstrin homology domain containing 682 2001-02-09 2015-11-18 2015-11-18 65977 ENSG00000116095 OTTHUMG00000154446 uc002umn.4 AF286162 NM_019091 CCDS33336 Q9HB20 "11001876|15107860" MGI:1932515 RGD:1305244 607774 HGNC:14338 "ENST00000234453.10|NM_019091.4" +HGNC:19648 PLEKHA3P1 pleckstrin homology domain containing A3 pseudogene 1 pseudogene pseudogene Approved 19q13.2 19q13.2 PLEKHA3P "pleckstrin homology domain-containing, family A member 3 pseudogene 1|pleckstrin homology domain containing, family A member 3 pseudogene 1" 2003-04-23 2015-11-18 2015-11-18 91405 ENSG00000269800 OTTHUMG00000182622 NG_000949 PGOHUM00000259335 HGNC:19648 +HGNC:14339 PLEKHA4 pleckstrin homology domain containing A4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PEPP1 pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4 Pleckstrin homology domain containing 682 2001-02-09 2015-11-18 2016-10-25 57664 ENSG00000105559 OTTHUMG00000183329 uc002pkx.4 AY007233 NM_001161354 "CCDS12737|CCDS54291" Q9H4M7 11001876 MGI:1916467 RGD:735133 607769 HGNC:14339 "ENST00000263265.11|NM_020904.3" +HGNC:30036 PLEKHA5 pleckstrin homology domain containing A5 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "PEPP2|KIAA1686|FLJ10667" pleckstrin homology domain containing, family A member 5 Pleckstrin homology domain containing 682 2004-07-30 2015-11-18 2016-10-05 54477 ENSG00000052126 OTTHUMG00000167921 uc001reb.4 AF302150 NM_019012 "CCDS58213|CCDS55809|CCDS8682|CCDS58214|CCDS44840" Q9HAU0 "11214970|11001876" MGI:1923802 RGD:621175 607770 HGNC:30036 "ENST00000429027.7|NM_001256470.2" +HGNC:17053 PLEKHA6 pleckstrin homology domain containing A6 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "PEPP3|KIAA0969" pleckstrin homology domain containing, family A member 6 Pleckstrin homology domain containing 682 2004-07-30 2015-11-18 2016-10-05 22874 ENSG00000143850 OTTHUMG00000036057 uc001hau.5 AB023186 NM_014935 CCDS1444 Q9Y2H5 11001876 MGI:2388662 RGD:1564395 607771 470888 HGNC:17053 "ENST00000272203.8|NM_014935.5" HGNC:17053 +HGNC:27049 PLEKHA7 pleckstrin homology domain containing A7 protein-coding gene gene with protein product Approved 11p15 11p15 DKFZp686M22243 pleckstrin homology domain containing, family A member 7 Pleckstrin homology domain containing 682 2004-09-01 2015-11-18 2015-11-18 144100 ENSG00000166689 OTTHUMG00000165954 uc001mmo.4 BC033239 NM_175058 "CCDS86182|CCDS31434" Q6IQ23 20808826 MGI:2445094 RGD:1598216 612686 HGNC:27049 "ENST00000531066.6|NM_001329630.2" +HGNC:30037 PLEKHA8 pleckstrin homology domain containing A8 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "FAPP2|MGC3358" pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 Pleckstrin homology domain containing 682 2004-09-16 2015-11-18 2015-11-18 84725 ENSG00000106086 OTTHUMG00000097751 uc003taq.4 BC053990 NM_032639 "CCDS75574|CCDS56473|CCDS5424|CCDS87489|CCDS87490" Q96JA3 11001876 MGI:2681164 RGD:1563940 608639 HGNC:30037 "ENST00000449726.6|NM_001197026.2" +HGNC:30222 PLEKHA8P1 pleckstrin homology domain containing A8 pseudogene 1 pseudogene pseudogene Approved 12q12 12q12 FLJ14156 putative glycolipid transfer protein PLEKHA9 "pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9|pleckstrin homology domain containing, family A member 8 pseudogene 1" 2004-09-16 2010-11-24 2015-11-18 2015-11-18 51054 ENSG00000134297 AF103731 NR_037144 O95397 12477932 HGNC:30222 +HGNC:19079 PLEKHB1 pleckstrin homology domain containing B1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "PHR1|KPL1" PHRET1 "PH domain containing, retinal 1|pleckstrin homology domain containing, family B (evectins) member 1" Pleckstrin homology domain containing 682 2002-08-06 2002-11-08 2015-11-18 2016-10-05 58473 ENSG00000021300 OTTHUMG00000168030 uc001oua.3 AF081583 NM_001130033 "CCDS44675|CCDS44672|CCDS44674|CCDS44673" Q9UF11 10585447 MGI:1351469 RGD:621614 607651 HGNC:19079 "ENST00000354190.10|NM_021200.3" +HGNC:19236 PLEKHB2 pleckstrin homology domain containing B2 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "EVT2|FLJ20783" pleckstrin homology domain containing, family B (evectins) member 2 Pleckstrin homology domain containing 682 2002-11-04 2015-11-18 2016-10-05 55041 ENSG00000115762 OTTHUMG00000131656 uc002tsj.5 NM_017958 "CCDS74577|CCDS46413|CCDS58730|CCDS58729|CCDS58731|CCDS74576|CCDS2166" Q96CS7 10200314 MGI:2385825 RGD:1310954 618452 HGNC:19236 "ENST00000693505.1|NM_001100623.2" +HGNC:20148 PLEKHD1 pleckstrin homology and coiled-coil domain containing D1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 UPF0639 "pleckstrin homology domain containing, family D (with M protein repeats) member 1|pleckstrin homology domain containing, family D (with coiled-coil domains) member 1" Pleckstrin homology domain containing 682 2002-12-18 2015-11-18 2020-04-20 400224 ENSG00000175985 OTTHUMG00000171233 uc010ttf.2 AK126770 NM_001161498 CCDS53903 A6NEE1 MGI:3036228 RGD:1566112 HGNC:20148 "ENST00000322564.9|NM_001161498.2" +HGNC:20764 PLEKHF1 pleckstrin homology and FYVE domain containing 1 protein-coding gene gene with protein product Approved 19q12 19q12 "APPD|MGC4090|PHAFIN1|ZFYVE15" pleckstrin homology domain containing, family F (with FYVE domain) member 1 "Zinc fingers FYVE-type|Pleckstrin homology domain containing" "81|682" 2003-04-01 2015-11-18 2016-01-15 79156 ENSG00000166289 OTTHUMG00000182097 uc002nsh.5 AF434818 NM_024310 CCDS12417 Q96S99 MGI:1919537 RGD:1310544 615200 HGNC:20764 "ENST00000436066.4|NM_024310.5" +HGNC:20757 PLEKHF2 pleckstrin homology and FYVE domain containing 2 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "ZFYVE18|PHAFIN2|FLJ13187" pleckstrin homology domain containing, family F (with FYVE domain) member 2 "Zinc fingers FYVE-type|Pleckstrin homology domain containing" "81|682" 2003-04-01 2015-11-18 2016-11-01 79666 ENSG00000175895 OTTHUMG00000164660 uc003yhn.3 AF434819 NM_024613 CCDS6267 Q9H8W4 MGI:1919051 RGD:1312029 615208 HGNC:20757 "ENST00000315367.4|NM_024613.4" +HGNC:20884 PLEKHG1 pleckstrin homology and RhoGEF domain containing G1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "KIAA1209|ARHGEF41" pleckstrin homology domain containing, family G (with RhoGef domain) member 1 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2003-04-23 2015-11-18 2015-11-18 57480 ENSG00000120278 OTTHUMG00000015824 uc003qny.1 AB033035 NM_001029884 CCDS34552 Q9ULL1 10574462 MGI:2676551 RGD:1583676 HGNC:20884 +HGNC:29515 PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "CLG|FLJ00018|ARHGEF42" pleckstrin homology domain containing, family G (with RhoGef domain) member 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2004-12-01 2015-11-18 2020-11-17 64857 ENSG00000090924 OTTHUMG00000152570 uc010xuz.3 AK024429 NM_022835 "CCDS86767|CCDS86766|CCDS33022" Q9H7P9 "11839748|18045877" MGI:2141874 RGD:1310112 611893 HGNC:29515 "ENST00000425673.6|NM_022835.3" HGNC:29515 +HGNC:20364 PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 ARHGEF43 KIAA0599 "KIAA0599|pleckstrin homology domain containing, family G (with RhoGef domain) member 3" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2003-11-21 2004-12-01 2015-11-18 2015-11-18 26030 ENSG00000126822 OTTHUMG00000029671 uc001xho.3 AB011171 NM_015549 CCDS76690 A1L390 MGI:2388284 RGD:1308089 617940 HGNC:20364 "ENST00000247226.13|NM_001308147.2" +HGNC:24501 PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "DKFZP434I216|ARHGEF44" puratrophin-1 SCA4 "spinocerebellar ataxia 4|pleckstrin homology domain containing, family G (with RhoGef domain) member 4" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2005-03-09 2015-11-18 2020-04-01 25894 ENSG00000196155 OTTHUMG00000172936 uc002eso.5 AK024475 NM_015432 "CCDS32466|CCDS45512" Q58EX7 "16491300|16001362" MGI:2142544 RGD:1310790 609526 117882 HGNC:24501 "ENST00000379344.8|NM_001129729.3" +HGNC:29399 PLEKHG4B pleckstrin homology and RhoGEF domain containing G4B protein-coding gene gene with protein product Approved 5p15.33 05p15.33 KIAA1909 pleckstrin homology domain containing, family G (with RhoGef domain) member 4B "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2007-12-14 2015-11-18 2015-11-18 153478 ENSG00000153404 OTTHUMG00000161570 uc003jak.3 BC008352 NM_052909 CCDS34124 Q96PX9 11572484 HGNC:29399 "ENST00000637938.2|NM_052909.5" +HGNC:29105 PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "KIAA0720|Syx|GEF720|Tech" synectin-binding guanine exchange factor pleckstrin homology domain containing, family G (with RhoGef domain) member 5 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2005-05-23 2005-08-09 2015-11-18 2021-04-13 57449 ENSG00000171680 OTTHUMG00000000905 uc001anm.3 AK024676 NM_020631 "CCDS79|CCDS57968|CCDS57967" O94827 17564964 MGI:2652860 RGD:1303132 LRG_262|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_262.xml 611101 167889 HGNC:29105 "ENST00000377728.8|NM_020631.6" HGNC:29105 +HGNC:25562 PLEKHG6 pleckstrin homology and RhoGEF domain containing G6 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "FLJ10665|MYOGEF" myosin II interacting GEF pleckstrin homology domain containing, family G (with RhoGef domain) member 6 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2005-05-23 2015-11-18 2015-11-18 55200 ENSG00000008323 OTTHUMG00000168266 uc001qnr.4 AK001527 NM_018173 CCDS8541 Q3KR16 "16721066|17881735" MGI:2682298 RGD:2318544 611743 HGNC:25562 "ENST00000684764.1|NM_001384598.1" +HGNC:33829 PLEKHG7 pleckstrin homology and RhoGEF domain containing G7 protein-coding gene gene with protein product Approved 12q22 12q22 FLJ46688 C12orf74 "pleckstrin homology domain containing, family G (with RhoGef domain) member 7|chromosome 12 open reading frame 74" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 2007-12-14 2015-11-18 2020-04-01 440107 ENSG00000187510 OTTHUMG00000170106 uc001tcj.3 AK128530 NM_001004330 "CCDS53818|CCDS41819" Q6ZR37 RGD:7576392 HGNC:33829 "ENST00000344636.6|NM_001377329.1" +HGNC:17733 PLEKHH1 pleckstrin homology, MyTH4 and FERM domain containing H1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 KIAA1200 pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 "Pleckstrin homology domain containing|FERM domain containing" "682|1293" 2003-10-09 2015-11-18 2020-04-01 57475 ENSG00000054690 OTTHUMG00000171272 uc001xjl.2 AB033026 NM_020715 CCDS45128 Q9ULM0 10574462 MGI:2144989 RGD:1308362 HGNC:17733 "ENST00000329153.10|NM_020715.3" +HGNC:30506 PLEKHH2 pleckstrin homology, MyTH4 and FERM domain containing H2 protein-coding gene gene with protein product Approved 2p21 02p21 "KIAA2028|PLEKHH1L" pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 "Pleckstrin homology domain containing|FERM domain containing" "682|1293" 2004-07-30 2015-11-18 2016-10-05 130271 ENSG00000152527 OTTHUMG00000128657 uc010yny.3 AB095948 NM_172069 CCDS1812 Q8IVE3 MGI:2146813 RGD:1304935 612723 HGNC:30506 "ENST00000282406.9|NM_172069.4" +HGNC:26105 PLEKHH3 pleckstrin homology, MyTH4 and FERM domain containing H3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 FLJ21019 pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 "Pleckstrin homology domain containing|FERM domain containing" "682|1293" 2006-01-26 2015-11-18 2020-04-01 79990 ENSG00000068137 OTTHUMG00000180641 uc002iau.5 BC052978 NM_024927 CCDS11434 Q7Z736 12477932 MGI:2384950 RGD:1304854 HGNC:26105 "ENST00000591022.6|NM_024927.5" +HGNC:18211 PLEKHJ1 pleckstrin homology domain containing J1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ10297 guanine nucleotide releasing protein x pleckstrin homology domain containing, family J member 1 "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2004-02-13 2015-11-18 2020-04-01 55111 ENSG00000104886 OTTHUMG00000180425 uc002lvf.2 AK001159 NM_018049 "CCDS74251|CCDS12083" Q9NW61 11602354 MGI:1925920 RGD:1307213 617834 HGNC:18211 "ENST00000326631.7|NM_018049.3" +HGNC:29017 PLEKHM1 pleckstrin homology and RUN domain containing M1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 KIAA0356 pleckstrin homology domain containing, family M (with RUN domain) member 1 Pleckstrin homology domain containing 682 2004-02-27 2015-11-18 2020-04-01 9842 ENSG00000225190 OTTHUMG00000179074 uc002ija.4 X85792 NM_014798 CCDS32671 Q9Y4G2 "9205841|12820725|27777970" MGI:2443207 RGD:1308010 611466 212898 HGNC:29017 "ENST00000430334.8|NM_014798.3" HGNC:29017 +HGNC:35411 PLEKHM1P1 pleckstrin homology and RUN domain containing M1 pseudogene 1 pseudogene pseudogene Approved 17q24.1 17q24.1 LOC440456 PLEKHM1P pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene 2009-01-09 2015-11-18 2015-11-18 2015-11-18 440456 ENSG00000214176 OTTHUMG00000179296 NR_024386 HGNC:35411 +HGNC:29131 PLEKHM2 pleckstrin homology and RUN domain containing M2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 KIAA0842 pleckstrin homology domain containing, family M (with RUN domain) member 2 Pleckstrin homology domain containing 682 2004-02-27 2015-11-18 2016-10-05 23207 ENSG00000116786 OTTHUMG00000003062 uc010obo.2 AB020649 NM_015164 CCDS44063 Q8IWE5 10048485 MGI:1916832 RGD:1307005 609613 HGNC:29131 "ENST00000375799.8|NM_015164.4" HGNC:29131 +HGNC:34006 PLEKHM3 pleckstrin homology domain containing M3 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 DAPR differentiation associated protein PLEKHM1L "pleckstrin homology domain containing, family M, member 1-like|pleckstrin homology domain containing, family M, member 3" Pleckstrin homology domain containing 682 2008-02-28 2008-04-03 2015-11-18 2015-11-18 389072 ENSG00000178385 OTTHUMG00000154781 uc002vcl.3 AK057612 NM_001080475 CCDS42808 Q6ZWE6 19028694 MGI:2443627 RGD:1307151 619186 HGNC:34006 "ENST00000427836.8|NM_001080475.3" +HGNC:25284 PLEKHN1 pleckstrin homology domain containing N1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 DKFZP434H2010 pleckstrin homology domain containing, family N member 1 Pleckstrin homology domain containing 682 2005-06-03 2015-11-18 2015-11-18 84069 ENSG00000187583 OTTHUMG00000040756 uc001acd.4 AL136730 NM_032129 "CCDS53256|CCDS4" Q494U1 11230166 MGI:2387630 RGD:1311019 HGNC:25284 "ENST00000379410.8|NM_032129.3" +HGNC:24310 PLEKHO1 pleckstrin homology domain containing O1 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "CKIP-1|OC120" pleckstrin homology domain containing, family O member 1 Pleckstrin homology domain containing 682 2005-11-28 2015-11-18 2015-11-18 51177 ENSG00000023902 OTTHUMG00000012510 uc001ett.4 AF073836 NM_016274 "CCDS76210|CCDS945" Q53GL0 10799509 MGI:1914470 RGD:1311487 608335 HGNC:24310 "ENST00000369124.5|NM_016274.6" +HGNC:30026 PLEKHO2 pleckstrin homology domain containing O2 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "DKFZp761K2312|PP1628|pp9099" PLEKHQ1 "pleckstrin homology domain containing, family Q member 1|pleckstrin homology domain containing, family O member 2" Pleckstrin homology domain containing 682 2006-02-07 2007-12-14 2015-11-18 2019-03-01 80301 ENSG00000241839 OTTHUMG00000133050 uc002anv.4 AF318373 NM_025201 "CCDS10196|CCDS73739" Q8TD55 28627369 MGI:2143132 RGD:1305718 HGNC:30026 "ENST00000323544.5|NM_025201.5" +HGNC:26285 PLEKHS1 pleckstrin homology domain containing S1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ23537|bA211N11.2" C10orf81 "chromosome 10 open reading frame 81|pleckstrin homology domain containing, family S member 1" Pleckstrin homology domain containing 682 2004-02-18 2012-05-31 2015-11-18 2016-10-05 79949 ENSG00000148735 OTTHUMG00000019074 uc001lar.3 AK027190 NM_024889 "CCDS53580|CCDS53581|CCDS7583" Q5SXH7 12477932 MGI:2443041 RGD:1559884 HGNC:26285 +HGNC:30053 PLET1 placenta expressed transcript 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 placenta-expressed transcript 1 C11orf34 chromosome 11 open reading frame 34 2004-03-31 2013-10-14 2013-10-14 2014-11-19 349633 ENSG00000188771 OTTHUMG00000167189 AY364431 NM_001145024 CCDS44732 Q6UQ28 MGI:1923759 RGD:1359217 611904 HGNC:30053 "ENST00000338832.4|NM_001145024.1" +HGNC:9071 PLG plasminogen protein-coding gene gene with protein product Approved 6q26 06q26 2001-06-22 2021-04-13 5340 ENSG00000122194 OTTHUMG00000015957 uc003qtm.5 M74220 NM_000301 "CCDS55074|CCDS5279" P00747 MGI:97620 RGD:619893 LRG_571|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_571.xml 173350 117886 S01.233 objectId:2394 HGNC:9071 "ENST00000308192.14|NM_000301.5" HGNC:9071 +HGNC:9074 PLGLA plasminogen like A (pseudogene) pseudogene pseudogene Approved 2q12.2 02q12.2 "PLGP2|PLGLA1" "plasminogen pseudogene 2|plasminogen-like A1|plasminogen-like A" 1992-06-09 2008-02-07 2019-02-18 2019-02-18 285189 ENSG00000240935 OTTHUMG00000153188 "U67178|M86872|M86873" NR_003506.2 Q15195 1986355 612212 HGNC:9074 +HGNC:9072 PLGLB1 plasminogen like B1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 PRP-B PLGL plasminogen-like 1989-05-10 2005-03-31 2019-02-18 2019-02-18 5343 ENSG00000183281 OTTHUMG00000154612 uc061lnw.1 "M86874|M86875|M86876" NM_001032392 CCDS33238 Q02325 "1554698|2714803" 173340 HGNC:9072 "ENST00000355705.4|NM_001032392.4" +HGNC:9073 PLGLB2 plasminogen like B2 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 PLGP1 plasminogen pseudogene 1 1992-06-09 2005-03-31 2019-02-18 2019-02-18 5342 ENSG00000125551 OTTHUMG00000153273 uc002ssl.4 "M86871|M93143" NM_002665 CCDS1999 Q02325 1986355 HGNC:9073 "ENST00000359481.9|NM_002665.4" +HGNC:23633 PLGRKT plasminogen receptor with a C-terminal lysine protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "MDS030|FLJ14688|AD025|Plg-RKT" "uncharacterized hematopoietic stem/progenitor cells protein MDS030|plasminogen receptor with a C-terminal lysine" C9orf46 "chromosome 9 open reading frame 46|plasminogen receptor, C-terminal lysine transmembrane protein" 2003-11-27 2012-04-12 2016-04-19 2017-11-28 55848 ENSG00000107020 OTTHUMG00000019501 uc003zjc.5 AF225420 NM_018465 CCDS6463 Q9HBL7 21940822 MGI:1915009 RGD:1306839 618444 HGNC:23633 "ENST00000223864.7|NM_018465.4" +HGNC:9076 PLIN1 perilipin 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 PLIN perilipin Perilipins 678 1997-07-22 2009-08-12 2009-08-12 2021-05-26 5346 ENSG00000166819 OTTHUMG00000149813 uc010upx.3 AB005293 NM_002666 CCDS10353 O60240 "9521880|19638644" MGI:1890505 RGD:3351 170290 280360 HGNC:9076 "ENST00000300055.10|NM_002666.5" HGNC:9076 +HGNC:248 PLIN2 perilipin 2 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 ADRP adipophilin ADFP adipose differentiation-related protein Perilipins 678 1992-02-07 2009-08-12 2009-08-12 2020-09-17 123 ENSG00000147872 OTTHUMG00000019624 uc003zno.4 X97324 NM_001122 CCDS6490 Q99541 "9003395|19638644" MGI:87920 RGD:728889 103195 HGNC:248 "ENST00000276914.7|NM_001122.4" +HGNC:16893 PLIN3 perilipin 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "TIP47|PP17" "cargo selection protein (mannose 6 phosphate receptor binding protein)|placental protein 17|MPR-BINDING PROTEIN, 47-KD" M6PRBP1 mannose-6-phosphate receptor binding protein 1 Perilipins 678 2004-01-16 2009-08-12 2009-08-12 2020-04-01 10226 ENSG00000105355 OTTHUMG00000180249 uc002mbj.3 AF051314 NM_005817 "CCDS12137|CCDS59338|CCDS59337" O60664 "9590177|6856484|19638644" MGI:1914155 RGD:1595854 602702 HGNC:16893 "ENST00000221957.9|NM_005817.5" +HGNC:29393 PLIN4 perilipin 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 S3-12 KIAA1881 KIAA1881 Perilipins 678 2004-02-12 2009-08-12 2009-08-12 2019-03-28 729359 ENSG00000167676 OTTHUMG00000167571 uc002mar.3 AB067468 NM_001367868 Q96Q06 "11572484|19638644" MGI:1929709 RGD:1590867 613247 HGNC:29393 "ENST00000301286.5|NM_001367868.2" +HGNC:33196 PLIN5 perilipin 5 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "LSDP5|LSDA5|OXPAT|MLDP" lipid storage droplet protein 5 Perilipins 678 2009-08-12 2014-11-18 440503 ENSG00000214456 OTTHUMG00000182008 uc002mas.5 DQ839131 NM_001013706 CCDS42473 Q00G26 "17234449|19638644" MGI:1914218 RGD:1589602 613248 HGNC:33196 "ENST00000381848.7|NM_001013706.3" +HGNC:9077 PLK1 polo like kinase 1 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 PLK "polo-like kinase (Drosophila)|polo-like kinase 1" 1994-07-25 2004-01-28 2016-01-22 2016-10-05 5347 ENSG00000166851 OTTHUMG00000096984 uc002dlz.2 NM_005030 CCDS10616 P53350 8127874 MGI:97621 RGD:3352 602098 objectId:2168 HGNC:9077 "ENST00000300093.9|NM_005030.6" +HGNC:19699 PLK2 polo like kinase 2 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 SNK serum-inducible kinase "polo-like kinase 2 (Drosophila)|polo-like kinase 2" 2004-01-26 2016-01-22 2016-10-05 10769 ENSG00000145632 OTTHUMG00000097047 uc003jrn.4 NM_006622 "CCDS3974|CCDS75250" Q9NYY3 MGI:1099790 RGD:620760 607023 objectId:2169 HGNC:19699 "ENST00000274289.8|NM_006622.4" +HGNC:2154 PLK3 polo like kinase 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FNK|PRK" CNK "cytokine-inducible kinase|polo-like kinase 3 (Drosophila)|polo-like kinase 3" 1997-06-12 2004-01-28 2016-01-22 2016-01-22 1263 ENSG00000173846 OTTHUMG00000008491 uc001cmn.4 AJ293866 NM_004073 CCDS515 Q9H4B4 8702627 MGI:109604 RGD:62039 602913 objectId:2170 HGNC:2154 "ENST00000372201.5|NM_004073.4" +HGNC:11397 PLK4 polo like kinase 4 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 Sak STK18 "serine/threonine kinase 18|polo-like kinase 4 (Drosophila)|polo-like kinase 4" 1998-12-09 2004-01-28 2016-01-22 2016-01-22 10733 ENSG00000142731 OTTHUMG00000133301 uc003ifo.4 Y13115 NM_001190799 "CCDS54803|CCDS54804|CCDS3735" O00444 MGI:101783 RGD:1305390 605031 422336 objectId:2171 HGNC:11397 "ENST00000270861.10|NM_014264.5" HGNC:11397 +HGNC:27001 PLK5 polo like kinase 5 (inactive) protein-coding gene gene with protein product Approved 19p13.3 19p13.3 SgK384ps PLK5P "polo-like kinase 5 pseudogene|polo-like kinase 5, pseudogene|polo-like kinase 5" 2008-10-20 2011-07-14 2020-03-09 2021-10-06 126520 ENSG00000185988 OTTHUMG00000180073 uc002ltf.4 DQ424898 NM_001243079 CCDS59328 Q496M5 21245385 MGI:3026984 RGD:1305038 HGNC:27001 "ENST00000454744.7|NM_001243079.2" +HGNC:18553 PLLP plasmolipin protein-coding gene gene with protein product Approved 16q13 16q13 PMLP plasma membrane proteolipid TM4SF11 "transmembrane 4 superfamily member 11 (plasmolipin)|plasma membrane proteolipid (plasmolipin)" "Tetraspan junctional complex superfamily|MARVEL domain containing" "1471|1626" 2002-06-10 2005-03-21 2010-06-24 2015-08-25 51090 ENSG00000102934 OTTHUMG00000133465 uc002elg.3 AF137386 NM_015993 CCDS10777 Q9Y342 11707781 MGI:1915051 RGD:621478 600340 HGNC:18553 "ENST00000219207.10|NM_015993.3" +HGNC:54943 PLLPP1 PLLP pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-04-30 2020-04-30 139061 ENSG00000237782 NG_001542 +HGNC:9080 PLN phospholamban protein-coding gene gene with protein product Approved 6q22.31 06q22.31 CMD1P PLB 1991-08-22 2021-04-13 5350 ENSG00000198523 OTTHUMG00000015462 uc003pye.4 NM_002667 CCDS5120 P26678 1828805 MGI:97622 RGD:619894 LRG_390|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_390.xml 172405 160331 HGNC:9080 "ENST00000357525.6|NM_002667.5" HGNC:9080 +HGNC:9081 PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 LH1 "lysyl hydroxlase 1|procollagen lysyl hydroxylase 1" "LLH|PLOD" procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI) Procollagen-lysine,2-oxoglutarate 5-dioxygenase family 2023 1991-07-11 2004-12-14 2016-04-06 2022-04-11 5351 ENSG00000083444 OTTHUMG00000002393 uc001atm.4 BC016657 NM_000302 CCDS142 Q02809 1577494 MGI:99907 RGD:621382 153454 117888 1.14.11.4 HGNC:9081 "ENST00000196061.5|NM_000302.4" HGNC:9081 +HGNC:9082 PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 protein-coding gene gene with protein product Approved 3q24 03q24 "LH2|TLH" "lysyl hydroxlase 2|telopeptidyl lysyl hydroxylase|procollagen lysyl hydroxylase 2" "procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2|procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2" Procollagen-lysine,2-oxoglutarate 5-dioxygenase family 2023 1996-12-18 2016-04-04 2022-04-11 5352 ENSG00000152952 OTTHUMG00000159417 uc003evr.2 U84573 NM_000935 "CCDS3132|CCDS3131" O00469 "9054364|15523624" MGI:1347007 RGD:3353 PLOD2 variant database|https://oi.gene.le.ac.uk/home.php?select_db=PLOD2 601865 117892 1.14.11.4 HGNC:9082 "ENST00000282903.10|NM_182943.3" HGNC:9082 +HGNC:9083 PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 LH3 "lysyl hydroxlase 3|Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3" Procollagen-lysine,2-oxoglutarate 5-dioxygenase family 2023 1998-09-25 2016-04-06 2022-04-11 8985 ENSG00000106397 OTTHUMG00000157111 uc003uyd.4 AF046889 NM_001084 CCDS5715 O60568 "9724729|9582318|21220425|30089812" MGI:1347008 RGD:631339 603066 304172 "1.14.11.4|2.4.1.66|2.4.1.50" HGNC:9083 "ENST00000223127.8|NM_001084.5" HGNC:9083 +HGNC:9086 PLP1 proteolipid protein 1 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 GPM6C Pelizaeus-Merzbacher disease "SPG2|PLP" spastic paraplegia 2, uncomplicated 2001-06-22 2008-07-28 2020-04-02 5354 ENSG00000123560 OTTHUMG00000022111 uc033epn.2 M27110 NM_000533 "CCDS14514|CCDS14513" P60201 MGI:97623 RGD:3354 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLP1 300401 117894 HGNC:9086 "ENST00000621218.5|NM_000533.5" HGNC:9086 +HGNC:9087 PLP2 proteolipid protein 2 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "A4|A4-LSB|MGC126187" A4 differentiation-dependent protein proteolipid protein 2 (colonic epithelium-enriched) MARVEL domain containing 1626 1998-05-05 2016-06-03 2020-04-02 5355 ENSG00000102007 OTTHUMG00000021513 uc004dmx.4 L09604 NM_002668 CCDS14319 Q04941 "8470895|7622043" MGI:1298382 RGD:1587363 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLP2 300112 HGNC:9087 "ENST00000376327.6|NM_002668.3" +HGNC:9457 PLPBP pyridoxal phosphate binding protein protein-coding gene gene with protein product Approved 8p11.23 08p11.23 PROSC "proline synthetase co-transcribed (bacterial homolog)|proline synthetase cotranscribed homolog (bacterial)" 1998-10-16 2017-02-28 2017-02-28 2017-02-28 11212 ENSG00000147471 OTTHUMG00000164024 uc003xkh.4 AB018566 NM_007198 CCDS6096 O94903 27912044 MGI:1891207 RGD:1308962 604436 HGNC:9457 "ENST00000328195.8|NM_007198.4" HGNC:9457 +HGNC:9228 PLPP1 phospholipid phosphatase 1 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "PAP-2a|LPP1" PPAP2A phosphatidic acid phosphatase type 2A "Phospholipid phosphatases|MicroRNA protein coding host genes" "1067|1691" 1998-12-02 2015-10-14 2015-10-14 2016-10-05 8611 ENSG00000067113 OTTHUMG00000162240 AB000888 NM_176895 "CCDS34159|CCDS34160" O14494 9305923 MGI:108412 RGD:621832 607124 objectId:1438 3.1.3.4 HGNC:9228 "ENST00000307259.9|NM_003711.4" +HGNC:9230 PLPP2 phospholipid phosphatase 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PAP-2c|LPP2" PPAP2C phosphatidic acid phosphatase type 2C Phospholipid phosphatases 1067 1998-12-02 2015-10-14 2015-10-14 2015-10-14 8612 ENSG00000141934 OTTHUMG00000180530 AF035959 NM_003712 "CCDS45889|CCDS12024|CCDS12023" O43688 "9570154|9607309" MGI:1354945 RGD:628893 607126 objectId:1440 3.1.3.4 HGNC:9230 "ENST00000434325.7|NM_003712.4" +HGNC:9229 PLPP3 phospholipid phosphatase 3 protein-coding gene gene with protein product Approved 1p32.2 01p32.2 "PAP-2b|LPP3" PPAP2B phosphatidic acid phosphatase type 2B Phospholipid phosphatases 1067 1998-12-02 2015-10-14 2015-10-14 2017-12-01 8613 ENSG00000162407 OTTHUMG00000008160 AB000889 NM_003713 CCDS604 O14495 9305923 MGI:1915166 RGD:620454 607125 objectId:1439 3.1.3.4 HGNC:9229 "ENST00000371250.4|NM_003713.5" +HGNC:23531 PLPP4 phospholipid phosphatase 4 protein-coding gene gene with protein product Approved 10q26.12 10q26.12 DPPL2 diacylglycerol pyrophosphate phosphatase-like 2 "PPAPDC1|PPAPDC1A" "phosphatidic acid phosphatase type 2 domain containing 1|phosphatidic acid phosphatase type 2 domain containing 1A" Phospholipid phosphatases 1067 2004-05-27 2015-10-14 2015-10-14 2016-10-05 196051 ENSG00000203805 OTTHUMG00000019168 AK098668 NM_001030059 CCDS41573 Q5VZY2 17590538 MGI:2685936 RGD:1306289 HGNC:23531 "ENST00000398250.6|NM_001030059.3" +HGNC:25026 PLPP5 phospholipid phosphatase 5 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "HTPAP|DPPL1" diacylglycerol pyrophosphate phosphatase-like 1 PPAPDC1B phosphatidic acid phosphatase type 2 domain containing 1B Phospholipid phosphatases 1067 2005-07-15 2015-10-14 2015-10-14 2016-10-05 84513 ENSG00000147535 OTTHUMG00000165104 AF212238 NM_032483 "CCDS47841|CCDS47843|CCDS87598|CCDS47842" Q8NEB5 17590538 MGI:1919160 RGD:1591734 610626 HGNC:25026 "ENST00000424479.7|NM_001102559.2" +HGNC:23682 PLPP6 phospholipid phosphatase 6 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "FLJ90191|FLJ46512|PDP1" "polyisoprenoid diphosphate phosphatase type 1|presqualene diphosphate phosphatase" PPAPDC2 phosphatidic acid phosphatase type 2 domain containing 2 Phospholipid phosphatases 1067 2005-07-15 2015-10-14 2015-10-14 2016-10-05 403313 ENSG00000205808 OTTHUMG00000019466 AK128369 NM_203453 CCDS34981 Q8IY26 "16464866|20110354" MGI:1921661 RGD:1566000 611666 HGNC:23682 "ENST00000381883.5|NM_203453.5" +HGNC:28174 PLPP7 phospholipid phosphatase 7 (inactive) protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "MGC12921|FLJ14662|NET39" nuclear envelope transmembrane protein NET39 "C9orf67|PPAPDC3" "chromosome 9 open reading frame 67|phosphatidic acid phosphatase type 2 domain containing 3" Phospholipid phosphatases 1067 2004-01-06 2015-10-14 2015-10-14 2016-10-05 84814 ENSG00000160539 OTTHUMG00000020822 AK027568 NM_032728 CCDS6942 Q8NBV4 12958361 MGI:2445183 RGD:1305821 618743 HGNC:28174 "ENST00000372264.4|NM_032728.4" +HGNC:25993 PLPPR1 phospholipid phosphatase related 1 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "PRG-3|MGC26189|FLJ20300|LPPR1" Phospholipid phosphatase related 1127 2015-10-14 2015-10-14 54886 ENSG00000148123 OTTHUMG00000020373 "AY304515|AY337718" NM_017753 CCDS6751 Q8TBJ4 14750979 MGI:2445015 RGD:1303116 619590 HGNC:25993 "ENST00000374874.8|NM_207299.2" +HGNC:29566 PLPPR2 phospholipid phosphatase related 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "LPPR2|PRG-4" Phospholipid phosphatase related 1127 2015-10-14 2015-10-14 64748 ENSG00000105520 OTTHUMG00000182023 AY339628 NM_022737 "CCDS59352|CCDS12258" Q96GM1 14750979 MGI:2384575 RGD:1597171 619591 HGNC:29566 "ENST00000688289.1|NM_001393892.1" +HGNC:23497 PLPPR3 phospholipid phosphatase related 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PRG-2|FLJ11535|LPPR3|PRG2" Phospholipid phosphatase related 1127 2015-10-14 2016-11-16 79948 ENSG00000129951 OTTHUMG00000164523 AF541282 NM_024888 "CCDS12043|CCDS58636" Q6T4P5 12730698 MGI:2388640 RGD:727823 610391 HGNC:23497 "ENST00000520876.8|NM_001270366.2" +HGNC:23496 PLPPR4 phospholipid phosphatase related 4 protein-coding gene gene with protein product Approved 1p21.3-p21.2 01p21.3-p21.2 "PRG-1|LPPR4|KIAA0455|PHP1" plasticity related gene-1 Phospholipid phosphatase related 1127 2015-10-14 2018-02-13 9890 ENSG00000117600 OTTHUMG00000010763 "AF541281|AB007924" NM_014839 "CCDS757|CCDS53347" Q7Z2D5 12730698 MGI:106530 RGD:727806 607813 HGNC:23496 "ENST00000370185.9|NM_014839.5" +HGNC:31703 PLPPR5 phospholipid phosphatase related 5 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "PAP2D|PAP2|LPPR5|PRG5" plasticity-related gene 5 Phospholipid phosphatase related 1127 2015-10-14 2015-10-14 163404 ENSG00000117598 OTTHUMG00000010738 "AY574039|AY634620" NM_001037317 "CCDS30778|CCDS30779" Q32ZL2 16010976 MGI:1923019 RGD:1309567 617287 HGNC:31703 "ENST00000263177.5|NM_001037317.2" +HGNC:55720 PLPPR5-AS1 PLPPR5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Antisense RNAs 1987 2021-07-13 2021-07-21 100129620 ENSG00000232825 NR_033940 34015762 +HGNC:9089 PLRG1 pleiotropic regulator 1 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "PRL1|Prp46|PRPF46|Cwc1|TANGO4" transport and golgi organization 4 homolog (Drosophila) "pleiotropic regulator 1 (PRL1, Arabidopsis homolog)|pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)" "WD repeat domain containing|NineTeen complex|NTC associated proteins|Spliceosomal C complex" "362|1361|1498|1510" 1998-03-02 2011-05-19 2018-07-04 5356 ENSG00000171566 OTTHUMG00000161411 uc003iny.4 AF044333 NM_002669 "CCDS56341|CCDS34083" O43660 19307306 MGI:1858197 RGD:621047 605961 HGNC:9089 "ENST00000499023.7|NM_002669.4" +HGNC:9090 PLS1 plastin 1 protein-coding gene gene with protein product Approved 3q23 03q23 "fimbrin|I-plastin|Plastin-1" plastin 1 (I isoform) EF-hand domain containing 863 1997-08-18 2010-02-10 2021-10-15 5357 ENSG00000120756 OTTHUMG00000159292 uc010huv.4 L20826 NM_002670 CCDS3125 Q14651 8139549 MGI:104809 RGD:1307142 602734 HGNC:9090 "ENST00000457734.7|NM_001145319.2" HGNC:9090 +HGNC:40451 PLS1-AS1 PLS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 PLS1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873943 ENSG00000239641 OTTHUMG00000159291 uc062oph.1 PLS1-AS1 +HGNC:55926 PLS1P1 PLS1 pseudogene 1 pseudogene pseudogene Approved 11q22.1 11q22.1 2021-10-15 2021-10-15 100129471 ENSG00000254534 NG_016474 PGOHUM00000290663 +HGNC:9091 PLS3 plastin 3 protein-coding gene gene with protein product Approved Xq23 Xq23 T-plastin plastin 3 (T isoform) EF-hand domain containing 863 1997-08-18 2010-02-10 2020-04-02 5358 ENSG00000102024 OTTHUMG00000022237 uc004eqd.4 L05491 NM_001136025 "CCDS78499|CCDS14568" P13797 8428952 MGI:104807 RGD:621409 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLS3 300131 392290 HGNC:9091 "ENST00000355899.8|NM_005032.7" HGNC:9091 +HGNC:50343 PLS3-AS1 PLS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq23 Xq23 Antisense RNAs 1987 2014-04-15 2014-04-15 101927352 ENSG00000271826 OTTHUMG00000185326 NR_110383 PLS3-AS1 HGNC:50343 +HGNC:9092 PLSCR1 phospholipid scramblase 1 protein-coding gene gene with protein product Approved 3q24 03q24 MMTRA1B Phospholipid scramblases 954 1998-06-08 2016-10-05 5359 ENSG00000188313 OTTHUMG00000159427 uc003evx.5 AF098642 NM_021105 "CCDS3135|CCDS87153|CCDS87152" O15162 9218461 MGI:893575 RGD:620521 604170 HGNC:9092 "ENST00000342435.9|NM_021105.3" +HGNC:16494 PLSCR2 phospholipid scramblase 2 protein-coding gene gene with protein product Approved 3q24 03q24 Phospholipid scramblases 954 2001-09-04 2014-11-18 57047 ENSG00000163746 OTTHUMG00000159429 uc003evv.3 NM_020359 "CCDS56284|CCDS3134|CCDS75029" Q9NRY7 10930526 MGI:1270860 RGD:7575278 607610 HGNC:16494 +HGNC:16495 PLSCR3 phospholipid scramblase 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 Phospholipid scramblases 954 2001-09-04 2016-11-10 57048 ENSG00000187838 OTTHUMG00000178169 AF159442 NM_020360 CCDS42253 Q9NRY6 10930526 MGI:1917560 RGD:1307016 607611 HGNC:16495 "ENST00000619711.5|NM_020360.4" +HGNC:16497 PLSCR4 phospholipid scramblase 4 protein-coding gene gene with protein product Approved 3q24 03q24 Phospholipid scramblases 954 2001-09-04 2014-11-18 57088 ENSG00000114698 OTTHUMG00000159415 uc003evt.6 AF199023 NM_020353 "CCDS3133|CCDS54651" Q9NRQ2 10930526 MGI:2143267 RGD:1311693 607612 HGNC:16497 "ENST00000354952.7|NM_020353.3" +HGNC:19952 PLSCR5 phospholipid scramblase family member 5 protein-coding gene gene with protein product Approved 3q24 03q24 phospholipid scramblase family, member 5 Phospholipid scramblases 954 2004-06-28 2015-11-18 2018-11-16 389158 ENSG00000231213 OTTHUMG00000159437 uc062otn.1 AY436642 NM_001085420 "CCDS46931|CCDS82853" A0PG75 MGI:3779462 RGD:1564500 HGNC:19952 "ENST00000443512.2|NM_001085420.2" +HGNC:40907 PLSCR5-AS1 PLSCR5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q24 03q24 PLSCR5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874104 ENSG00000241457 OTTHUMG00000159436 uc062oto.1 PLSCR5-AS1 +HGNC:9093 PLTP phospholipid transfer protein protein-coding gene gene with protein product Approved 20q13.12 20q13.12 BPIFE BPI fold containing family E BPI fold containing 456 1994-09-16 2014-11-18 5360 ENSG00000100979 OTTHUMG00000033047 uc002xqn.3 L26232 NM_006227 "CCDS13387|CCDS56196|CCDS13386|CCDS56197" P55058 MGI:103151 RGD:1306695 172425 HGNC:9093 "ENST00000372431.8|NM_006227.4" +HGNC:43698 PLUT PDX1 associated lncRNA, upregulator of transcription non-coding RNA RNA, long non-coding Approved 13q12.2 13q12.2 "PLUTO|HI-LNC71" Human Islet Long Non Coding RNA 71 PDX1-AS1 "PDX1 antisense RNA 1 (non-protein coding)|PDX1 antisense RNA 1" Long non-coding RNAs with non-systematic symbols 1992 2012-01-31 2017-01-20 2017-01-20 2017-06-01 100861550 ENSG00000247381 OTTHUMG00000170578 uc058wbw.1 "BX383058|CR593175" NR_047484 28041957 MGI:1917397 HGNC:43698 +HGNC:13635 PLVAP plasmalemma vesicle associated protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "gp68|PV-1|PV1|FELS" fenestrated-endothelial linked structure protein; PV-1 protein 2001-04-27 2015-07-22 83483 ENSG00000130300 OTTHUMG00000182784 uc002ngk.2 AF326591 NM_031310 CCDS32952 Q9BX97 11401446 MGI:1890497 RGD:619971 607647 HGNC:13635 "ENST00000252590.9|NM_031310.3" HGNC:13635 +HGNC:20945 PLXDC1 plexin domain containing 1 protein-coding gene gene with protein product Approved 17q12 17q12 "TEM3|TEM7" tumor endothelial marker 7 precursor 2003-08-27 2016-10-05 57125 ENSG00000161381 OTTHUMG00000133183 uc002hrg.2 AF279144 NM_020405 CCDS11333 Q8IUK5 "10947988|11559528" MGI:1919574 RGD:1307496 606826 HGNC:20945 "ENST00000315392.9|NM_020405.5" +HGNC:21013 PLXDC2 plexin domain containing 2 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 "TEM7R|FLJ14623" tumor endothelial marker 7-related precursor 2003-08-27 2016-10-05 84898 ENSG00000120594 OTTHUMG00000017781 uc001iqg.3 AF378757 NM_032812 "CCDS7132|CCDS60497" Q6UX71 11559528 MGI:1914698 RGD:1305962 606827 HGNC:21013 "ENST00000377252.5|NM_032812.9" +HGNC:9099 PLXNA1 plexin A1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 NOV PLXN1 "Plexins|IPT domain containing" "683|1752" 1998-08-13 2021-05-26 5361 ENSG00000114554 OTTHUMG00000044222 uc003ejg.3 X87832 NM_032242 CCDS33847 Q9UIW2 8570614 MGI:107685 RGD:1560871 601055 HGNC:9099 "ENST00000393409.3|NM_032242.4" +HGNC:9100 PLXNA2 plexin A2 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "OCT|FLJ11751|FLJ30634|KIAA0463" "plexin 2|plexin-A2|semaphorin receptor OCT|transmembrane protein OCT" PLXN2 "Plexins|IPT domain containing" "683|1752" 1998-08-13 2014-11-18 5362 ENSG00000076356 OTTHUMG00000036564 uc001hgz.4 X87831 NM_025179 CCDS31013 O75051 8570614 MGI:107684 RGD:1305325 601054 470890 HGNC:9100 "ENST00000367033.4|NM_025179.4" +HGNC:9101 PLXNA3 plexin A3 protein-coding gene gene with protein product Approved Xq28 Xq28 "SEX|XAP-6|6.3|Plxn3" PLXN4 "Plexins|IPT domain containing" "683|1752" 1998-01-20 2020-04-02 55558 ENSG00000130827 OTTHUMG00000033290 uc004flm.5 X74609 NM_017514 CCDS14752 P51805 "8248200|8733135" MGI:107683 RGD:1584973 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLXNA3 300022 HGNC:9101 "ENST00000369682.4|NM_017514.5" +HGNC:9102 PLXNA4 plexin A4 protein-coding gene gene with protein product Approved 7q32.3 07q32.3 "KIAA1550|DKFZp434G0625PRO34003|FAYV2820" "PLXNA4A|PLXNA4B" "plexin A4, A|plexin A4, B" "Plexins|IPT domain containing" "683|1752" 1999-11-19 2007-09-26 2007-09-26 2020-04-20 91584 ENSG00000221866 OTTHUMG00000155108 uc064ict.1 "AB046770|AK123428" NM_181775 "CCDS43647|CCDS5826|CCDS43646" Q9HCM2 MGI:2179061 RGD:1308074 604280 HGNC:9102 "ENST00000321063.9|NM_020911.2" +HGNC:9103 PLXNB1 plexin B1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SEP|KIAA0407" PLXN5 "Plexins|IPT domain containing" "683|1752" 1998-08-13 2014-11-18 5364 ENSG00000164050 OTTHUMG00000133527 uc003csx.2 X87904 NM_002673 CCDS2765 O43157 "8570614|11035813" MGI:2154238 RGD:1310564 601053 HGNC:9103 "ENST00000296440.11|NM_001130082.3" +HGNC:9104 PLXNB2 plexin B2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "MM1|KIAA0315|PLEXB2" "Plexins|IPT domain containing" "683|1752" 1999-11-19 2014-11-18 23654 ENSG00000196576 OTTHUMG00000150219 uc062flc.1 NM_012401 CCDS43035 O15031 "10520995|12183458" MGI:2154239 RGD:1305495 604293 HGNC:9104 "ENST00000359337.9|NM_012401.4" +HGNC:9105 PLXNB3 plexin B3 protein-coding gene gene with protein product Approved Xq28 Xq28 "PLEXR|PLEXB3" PLXN6 "Plexins|IPT domain containing" "683|1752" 1998-08-13 2020-04-02 5365 ENSG00000198753 OTTHUMG00000024217 uc004fii.3 AF149019 NM_001163257 "CCDS14729|CCDS55536" Q9ULL4 10520995 MGI:2154240 RGD:1560615 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PLXNB3 300214 HGNC:9105 "ENST00000361971.10|NM_005393.3" +HGNC:40454 PLXNB3-AS1 PLXNB3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 Antisense RNAs 1987 2021-07-13 2021-07-13 102723591 ENSG00000232725 OTTHUMG00000024213 XR_007068351 +HGNC:9106 PLXNC1 plexin C1 protein-coding gene gene with protein product Approved 12q22 12q22 "VESPR|CD232" "CD molecules|Plexins|IPT domain containing" "471|683|1752" 1999-11-19 2016-11-10 10154 ENSG00000136040 OTTHUMG00000170235 uc001tdc.3 AF030339 NM_005761 CCDS9049 O60486 MGI:1890127 RGD:1307420 604259 CD232 HGNC:9106 "ENST00000258526.9|NM_005761.3" +HGNC:9107 PLXND1 plexin D1 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 KIAA0620 "Plexins|IPT domain containing" "683|1752" 1999-11-19 2021-05-26 23129 ENSG00000004399 OTTHUMG00000159547 uc003emx.3 AY116661 NM_015103 CCDS33854 Q9Y4D7 12412018 MGI:2154244 RGD:1310796 604282 377069 HGNC:9107 "ENST00000324093.9|NM_015103.3" HGNC:9107 +HGNC:26518 PM20D1 peptidase M20 domain containing 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "FLJ32569|Cps1" M20 metallopeptidases 1443 2007-11-14 2014-11-19 148811 ENSG00000162877 OTTHUMG00000035999 uc001hdj.4 NM_152491 CCDS1460 Q6GTS8 MGI:2442939 RGD:1564063 617124 HGNC:26518 "ENST00000367136.5|NM_152491.5" +HGNC:21408 PM20D2 peptidase M20 domain containing 2 protein-coding gene gene with protein product Approved 6q15 06q15 bA63L7.3 β-alanyl-lysine dipeptidase ACY1L2 aminoacylase 1-like 2 M20 metallopeptidases 1443 2003-06-16 2007-11-14 2007-11-14 2018-04-18 135293 ENSG00000146281 OTTHUMG00000015193 uc003pmz.6 BC035036 NM_001010853 CCDS34499 Q8IYS1 24891507 MGI:2685270 RGD:1307853 615913 M20.021 HGNC:21408 "ENST00000275072.5|NM_001010853.3" +HGNC:9108 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 protein-coding gene gene with protein product Approved 18q21.32 18q21.32 "APR|NOXA" BCL2 homology region 3 (BH3) only 1277 1991-08-12 2014-11-19 5366 ENSG00000141682 OTTHUMG00000132765 uc002lic.3 D90070 NM_021127 CCDS11975 Q13794 "2398525|12879012" MGI:1930146 RGD:1359266 604959 HGNC:9108 "ENST00000316660.7|NM_021127.3" +HGNC:9109 PMCH pro-melanin concentrating hormone protein-coding gene gene with protein product Approved 12q23.2 12q23.2 MCH pro-melanin-concentrating hormone Neuropeptides 1902 1991-11-08 2015-11-23 2015-11-23 5367 ENSG00000183395 OTTHUMG00000170479 uc001tjl.4 M57703 NM_002674 CCDS31885 P20382 2149166 MGI:97629 RGD:3358 176795 ligandId:1298 HGNC:9109 "ENST00000329406.5|NM_002674.4" +HGNC:9110 PMCHL1 pro-melanin concentrating hormone like 1 (pseudogene) pseudogene pseudogene Approved 5p14.3 05p14.3 "pro-melanin-concentrating hormone-like 1|pro-melanin-concentrating hormone-like 1, pseudogene" 1993-01-13 2015-11-23 2015-11-23 5369 ENSG00000168967 OTTHUMG00000090661 AY008411 NR_003921 Q16048 8188237 176793 PGOHUM00000235529 HGNC:9110 +HGNC:9111 PMCHL2 pro-melanin concentrating hormone like 2 (pseudogene) pseudogene pseudogene Approved 5q13.2 05q13.2 "pro-melanin-concentrating hormone-like 2|pro-melanin-concentrating hormone-like 2, pseudogene" 1993-01-13 2015-11-23 2015-11-23 5370 ENSG00000169040 OTTHUMG00000099413 AY008413 NR_003922 Q9BQD1 8188237 MGI:97629 176794 PGOHUM00000235645 HGNC:9111 +HGNC:10880 PMEL premelanosome protein protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "D12S53E|SI|Pmel17|gp100|HMB-45|ME20|HMB45" "SIL|SILV" "silver (mouse homolog) like|silver homolog (mouse)" 1997-06-24 2010-12-17 2010-12-17 2022-02-11 6490 ENSG00000185664 OTTHUMG00000170573 uc001sip.4 AK092881 NM_006928 "CCDS8897|CCDS55833|CCDS55834" P40967 8739560 MGI:98301 RGD:1307513 155550 HGNC:10880 "ENST00000548747.6|NM_001384361.1" +HGNC:14107 PMEPA1 prostate transmembrane protein, androgen induced 1 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 STAG1 solid tumor-associated 1 TMEPAI transmembrane, prostate androgen induced RNA 2000-12-04 2008-04-03 2008-04-03 2016-10-05 56937 ENSG00000124225 OTTHUMG00000032831 uc002xyt.5 AF224278 NM_020182 "CCDS13463|CCDS13464|CCDS13462" Q969W9 10873380 MGI:1929600 RGD:1308255 606564 471158 HGNC:14107 "ENST00000341744.8|NM_020182.5" +HGNC:9112 PMF1 polyamine modulated factor 1 protein-coding gene gene with protein product Approved 1q22 01q22 MIS12 kinetochore complex 1322 2000-01-31 2016-08-10 2016-08-10 11243 ENSG00000160783 OTTHUMG00000177123 uc001fnq.4 AF141310 NM_007221 "CCDS55649|CCDS30886|CCDS55648" Q6P1K2 10419538 MGI:1914287 RGD:1584694 609176 HGNC:9112 "ENST00000368277.3|NM_007221.4" +HGNC:42953 PMF1-BGLAP PMF1-BGLAP readthrough other readthrough Approved 1q22 01q22 2011-09-28 2013-01-23 100527963 ENSG00000260238 OTTHUMG00000014817 uc021pbb.2 NM_001199661 MGI:1914287 HGNC:42953 +HGNC:17728 PMFBP1 polyamine modulated factor 1 binding protein 1 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 2002-05-21 2016-10-05 83449 ENSG00000118557 OTTHUMG00000167827 uc002fcd.4 AF239683 NM_031293 CCDS32483 Q8TBY8 11468771 MGI:1930136 RGD:621677 618085 HGNC:17728 "ENST00000237353.15|NM_031293.3" HGNC:17728 +HGNC:53649 PMIS2 PMIS2 transmembrane protein protein-coding gene gene with protein product Approved 19q13.12 19q13.12 IFITMD9 PMIS2, transmembrane protein interferon induced transmembrane protein domain containing 1600 2017-09-15 2019-01-25 2019-01-25 111216276 ENSG00000283758 OTTHUMG00000191909 NM_001395411 A0A1W2PS18 MGI:1922177 +HGNC:9113 PML PML nuclear body scaffold protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "MYL|TRIM19|RNF71" promyelocytic leukemia "Ring finger proteins|Tripartite motif family" "58|59" 1991-06-05 2020-04-06 2021-04-13 5371 ENSG00000140464 OTTHUMG00000137607 uc002awv.4 AB208950 NM_002675 "CCDS10257|CCDS58386|CCDS10258|CCDS10256|CCDS10255|CCDS45297|CCDS45298|CCDS45299|CCDS45300" P29590 MGI:104662 RGD:1562602 LRG_1069|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1069.xml PML 102578 117898 HGNC:9113 "ENST00000268058.8|NM_033238.3" +HGNC:9114 PMM1 phosphomannomutase 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 Sec53 brain glucose-1,6-bisphosphatase HAD Asp-based non-protein phosphatases 1045 1996-10-02 2016-10-05 5372 ENSG00000100417 OTTHUMG00000150972 uc003bal.3 NM_002676 CCDS14020 Q92871 "9070917|9271215" MGI:1353418 RGD:1310897 601786 5.4.2.8 HGNC:9114 "ENST00000216259.8|NM_002676.3" +HGNC:9115 PMM2 phosphomannomutase 2 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 "CDGS|CDG1a|PMI|PMI1" "phosphomannose isomerase 1|mannose-6-phosphate isomerase|Congenital disorder of glycosylation, type Ia" CDG1 HAD Asp-based non-protein phosphatases 1045 1997-05-22 2021-05-26 5373 ENSG00000140650 OTTHUMG00000129697 uc002czf.5 BC008310 NM_000303 CCDS10536 O15305 9140401 MGI:1859214 RGD:1309366 Congenital Disorders of Glycosylation pages|http://www.euroglycanet.org/ 601785 117903 5.3.1.8 HGNC:9115 "ENST00000268261.9|NM_000303.3" HGNC:9115 +HGNC:9116 PMM2P1 phosphomannomutase 2 pseudogene 1 pseudogene pseudogene Approved 18p11.22 18p11.22 1998-07-17 2020-04-20 390831 ENSG00000265038 OTTHUMG00000178557 NG_022485 9425221 PGOHUM00000294718 HGNC:9116 +HGNC:21753 PMM2P2 phosphomannomutase 2 pseudogene 2 pseudogene pseudogene Approved 18p11.21 18p11.21 2010-09-30 2020-04-06 646065 ENSG00000267116 OTTHUMG00000180715 NG_022477 PGOHUM00000234864 HGNC:21753 +HGNC:9117 PMP2 peripheral myelin protein 2 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "MP2|FABP8|M-FABP" Fatty acid binding protein family 550 1992-11-10 2021-05-26 5375 ENSG00000147588 OTTHUMG00000164600 uc003ycb.3 X62167 NM_002677 "CCDS6229|CCDS87617" P02689 "1720307|8288226" MGI:102667 RGD:1585218 170715 470892 objectId:2544 HGNC:9117 "ENST00000256103.3|NM_002677.5" HGNC:9117 +HGNC:9118 PMP22 peripheral myelin protein 22 protein-coding gene gene with protein product Approved 17p12 17p12 "HNPP|GAS3|Sp110|HMSNIA" CMT1A Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia) MicroRNA protein coding host genes 1691 1992-11-05 2021-05-26 5376 ENSG00000109099 OTTHUMG00000058960 uc002gol.5 D11428 NM_000304 "CCDS82078|CCDS11168" Q01453 "8482547|1497668|8252046" MGI:97631 RGD:3359 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_263|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_263.xml" 601097 117908 HGNC:9118 "ENST00000312280.9|NM_000304.4" HGNC:9118 +HGNC:18667 PMPCA peptidase, mitochondrial processing subunit alpha protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "KIAA0123|Alpha-MPP|MAS2" "INPP5E|SCAR2|CLA1" "inositol polyphosphate-5-phosphatase, 72 kD|peptidase (mitochondrial processing) alpha|spinocerebellar ataxia, autosomal recessive 2|cerebellar ataxia 1 (autosomal recessive)" M16 metallopeptidases 1440 2002-05-23 2003-06-20 2019-11-26 2020-09-22 23203 ENSG00000165688 OTTHUMG00000020926 uc004chl.5 D21064 NM_015160 CCDS35180 Q10713 "8590280|25808372|29576218" MGI:1918568 RGD:727897 613036 434440 HGNC:18667 "ENST00000371717.8|NM_015160.3" HGNC:18667 +HGNC:51348 PMPCAP1 PMPCA pseudogene 1 pseudogene pseudogene Approved 4q22.1 04q22.1 "peptidase (mitochondrial processing) alpha pseudogene 1|peptidase, mitochondrial processing alpha subunit pseudogene 1" 2014-10-13 2019-11-26 2019-11-26 133083 ENSG00000248817 OTTHUMG00000160921 NG_022020 HGNC:51348 +HGNC:9119 PMPCB peptidase, mitochondrial processing subunit beta protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MPPB|MPPP52|MAS1|beta-MPP" peptidase (mitochondrial processing) beta M16 metallopeptidases 1440 1999-07-22 2019-11-26 2020-09-22 9512 ENSG00000105819 OTTHUMG00000157205 uc003vbl.4 AF054182 NM_004279 CCDS5730 O75439 9653160 MGI:1920328 RGD:621297 603131 HGNC:9119 "ENST00000249269.9|NM_004279.3" HGNC:9119 +HGNC:9121 PMS1 PMS1 homolog 1, mismatch repair system component protein-coding gene gene with protein product Approved 2q32.2 02q32.2 MLH2 PMSL1 "postmeiotic segregation increased (S. cerevisiae) 1|PMS1 postmeiotic segregation increased 1 (S. cerevisiae)" MutL homologs 1027 1994-12-13 2015-07-10 2021-05-26 5378 ENSG00000064933 OTTHUMG00000132664 uc010fry.2 NM_000534 "CCDS82544|CCDS46473|CCDS82543|CCDS46474|CCDS74615|CCDS2302" P54277 "8072530|23608172" MGI:1202302 RGD:1359511 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PMS1|PMS1 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=PMS1|LRG_221|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_221.xml" 600258 117913 HGNC:9121 "ENST00000441310.7|NM_000534.5" HGNC:9121 +HGNC:9122 PMS2 PMS1 homolog 2, mismatch repair system component protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "H_DJ0042M02.9|HNPCC4|MLH4|PMS-2" PMSL2 "postmeiotic segregation increased (S. cerevisiae) 2|PMS2 postmeiotic segregation increased 2 (S. cerevisiae)|PMS1 homolog 2, mismatch repair protein" MutL homologs 1027 1994-12-13 2015-07-10 2022-02-09 5395 ENSG00000122512 OTTHUMG00000023135 uc003spl.4 NM_000535 "CCDS83155|CCDS5343|CCDS87474" P54278 8072530 MGI:104288 RGD:1305483 "Hereditary Non-Polyposis Colorectal Cancer, HNPCC|http://www.insight-group.org/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PMS2|PMS2 database at LOVD-China|http://genomed.org/LOVD/HNPCC/home.php?select_db=PMS2|LRG_161|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_161.xml" PMS2 600259 117916 HGNC:9122 "ENST00000265849.12|NM_000535.7" HGNC:9122 +HGNC:30061 PMS2CL PMS2 C-terminal like pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 PMS2P13 PMS1 homolog 2, mismatch repair system component pseudogene 13 2007-11-27 2015-07-10 441194 ENSG00000187953 OTTHUMG00000151857 BC041364 NR_002217 Q68D20 "15256438|17253626" HGNC:30061 +HGNC:9123 PMS2P1 PMS1 homolog 2, mismatch repair system component pseudogene 1 pseudogene pseudogene Approved 7q22.1 07q22.1 "PMS3|PMS8|PMS2L13|PMSR2|PMSR1" "PMS2L6|PMS2L8|PMS2L7|PMS2L1" "postmeiotic segregation increased 2-like 6|postmeiotic segregation increased 2-like 1|postmeiotic segregation increased 2-like 8|postmeiotic segregation increased 2-like 7|postmeiotic segregation increased 2-like 1 pseudogene|postmeiotic segregation increased 2 pseudogene 1" 1997-08-15 2010-10-26 2015-07-10 2015-07-10 5379 ENSG00000078319 OTTHUMG00000156885 D38435 NR_003613 A4D2B8 "8586419|15077197" 605038 HGNC:9123 +HGNC:9127 PMS2P2 PMS1 homolog 2, mismatch repair system component pseudogene 2 pseudogene pseudogene Approved 7q11.23 07q11.23 PMS4 PMS2L2 "postmeiotic segregation increased 2-like 2|postmeiotic segregation increased 2-like 2 pseudogene|postmeiotic segregation increased 2 pseudogene 2" 1997-08-15 2010-10-26 2015-07-10 2016-08-17 5380 ENSG00000278416 OTTHUMG00000182951 DA215155 NR_003614 O95744 8586419 PGOHUM00000302308 HGNC:9127 +HGNC:9128 PMS2P3 PMS1 homolog 2, mismatch repair system component pseudogene 3 pseudogene pseudogene Approved 7q11.23 07q11.23 "PMS5|PMSR3" "PMS2L9|PMS2L3" "postmeiotic segregation increased 2-like 3|postmeiotic segregation increased 2-like 3, pseudogene|postmeiotic segregation increased 2 pseudogene 3" 1997-08-15 2010-10-26 2015-07-10 2015-07-10 5387 ENSG00000127957 OTTHUMG00000156049 D38437 NR_028059 Q13401 8586419 HGNC:9128 +HGNC:9129 PMS2P4 PMS1 homolog 2, mismatch repair system component pseudogene 4 pseudogene pseudogene Approved 7q11.21 07q11.21 PMS6 PMS2 pseudogene PMS2L4 "postmeiotic segregation increased 2-like 4|postmeiotic segregation increased 2-like 4 pseudogene|postmeiotic segregation increased 2 pseudogene 4" 1997-08-15 2010-10-26 2015-07-10 2016-10-05 5382 ENSG00000067601 OTTHUMG00000156923 D38438 NR_022007 8586419 PGOHUM00000250872 HGNC:9129 +HGNC:9130 PMS2P5 PMS1 homolog 2, mismatch repair system component pseudogene 5 pseudogene pseudogene Approved 7q11.23 07q11.23 "PMS7|MGC34222" PMS2L5 "postmeiotic segregation increased 2-like 5|postmeiotic segregation increased 2 pseudogene 5" 1997-08-15 2010-10-26 2015-07-10 2015-07-10 5383 ENSG00000123965 OTTHUMG00000156014 "D38439|D38436" NR_027775 A8MQ11 8586419 HGNC:9130 +HGNC:33514 PMS2P6 PMS1 homolog 2, mismatch repair system component pseudogene 6 pseudogene pseudogene Approved 7q11.23 07q11.23 PMS2L14 "postmeiotic segregation increased 2-like 14|postmeiotic segregation increased 2 pseudogene 6" 2009-12-03 2010-10-26 2015-07-10 2016-08-17 729453 ENSG00000174384 OTTHUMG00000157066 AB017005 NG_006449 10101297 PGOHUM00000302801 HGNC:33514 +HGNC:33515 PMS2P7 PMS1 homolog 2, mismatch repair system component pseudogene 7 pseudogene pseudogene Approved 7q11.23 07q11.23 PMSR7 "PMS2LP2|PMS2L15" "postmeiotic segregation increased 2-like pseudogene 2|postmeiotic segregation increased 2-like 15|postmeiotic segregation increased 2 pseudogene 7" 2009-12-03 2010-10-26 2015-07-10 2015-07-10 100101440 ENSG00000229018 OTTHUMG00000157065 AB017006 NR_130940 10101297 PGOHUM00000302798 HGNC:33515 +HGNC:33516 PMS2P8 PMS1 homolog 2, mismatch repair system component pseudogene 8 pseudogene pseudogene Approved 7q11.23 07q11.23 PMS2L16 "postmeiotic segregation increased 2-like 16|postmeiotic segregation increased 2 pseudogene 8" 2009-12-03 2010-10-26 2015-07-10 2020-04-06 729299 ENSG00000273897 OTTHUMG00000188239 NG_006447 PGOHUM00000302799 HGNC:33516 +HGNC:9135 PMS2P9 PMS1 homolog 2, mismatch repair system component pseudogene 9 pseudogene pseudogene Approved 7q11.23 07q11.23 PMSR5 "PMS2LP1|PMS2L17" "postmeiotic segregation increased 2-like pseudogene 1|postmeiotic segregation increased 2-like 17|postmeiotic segregation increased 2 pseudogene 9" 1997-08-15 2010-10-26 2015-07-10 2020-04-20 100132832 ENSG00000233448 OTTHUMG00000155739 NR_028058 8586419 HGNC:9135 +HGNC:9124 PMS2P10 PMS1 homolog 2, mismatch repair system component pseudogene 10 pseudogene pseudogene Approved 7q11.23 07q11.23 PMSR4 PMS2L10 "postmeiotic segregation increased 2-like 10|postmeiotic segregation increased 2 pseudogene 10" 1997-08-15 2010-10-26 2015-07-10 2021-07-20 100288713 ENSG00000273598 OTTHUMG00000182947 NG_023454 8586419 PGOHUM00000302307 HGNC:9124 +HGNC:9125 PMS2P11 PMS1 homolog 2, mismatch repair system component pseudogene 11 pseudogene pseudogene Approved 7q11.23 07q11.23 PMSR6 PMS2L11 "postmeiotic segregation increased 2-like 11|postmeiotic segregation increased 2-like 11 pseudogene|postmeiotic segregation increased 2 pseudogene 11" 1997-08-15 2010-10-26 2015-07-10 2015-07-10 107161145 ENSG00000241350 OTTHUMG00000155730 NG_046688 Q13670 8586419 PGOHUM00000250955 HGNC:9125 +HGNC:13641 PMS2P12 PMS1 homolog 2, mismatch repair system component pseudogene 12 pseudogene pseudogene Approved 7q22.1 07q22.1 PMSL12 PMS2L12 "postmeiotic segregation increased 2-like 12|postmeiotic segregation increased 2-like 12 pseudogene|postmeiotic segregation increased 2 pseudogene 12" 2000-09-27 2010-10-26 2015-07-10 2020-04-07 392713 ENSG00000228546 OTTHUMG00000157128 AF030453 NG_009900 9799793 PGOHUM00000302874 HGNC:13641 +HGNC:55748 PMS2P13 PMS1 homolog 2, mismatch repair system component pseudogene 13 pseudogene pseudogene Approved 7q11.23 07q11.23 2021-07-20 2021-07-20 441259 ENSG00000276840 NG_006443 PGOHUM00000302306 +HGNC:55747 PMS2P14 PMS1 homolog 2, mismatch repair system component pseudogene 14 pseudogene pseudogene Approved 7q11.23 07q11.23 2021-07-20 2021-07-20 122149300 ENSG00000277125 PGOHUM00000302800 +HGNC:9141 PMVK phosphomevalonate kinase protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PMK|PMKA|HUMPMKI" 1999-07-09 2014-11-19 10654 ENSG00000163344 OTTHUMG00000037415 uc001ffq.4 L77213 NM_006556 CCDS1073 Q15126 "8663599|10191291" MGI:1915853 RGD:1310812 607622 444563 objectId:641 2.7.4.2 HGNC:9141 "ENST00000368467.4|NM_006556.4" HGNC:9141 +HGNC:13415 PNCK pregnancy up-regulated nonubiquitous CaM kinase protein-coding gene gene with protein product Approved Xq28 Xq28 "MGC45419|CaMK1b" "pregnancy upregulated non-ubiquitously expressed CaM kinase|pregnancy up-regulated non-ubiquitously expressed CaM kinase" Calmodulin dependent protein kinases 1630 2004-06-25 2013-10-14 2019-03-01 139728 ENSG00000130822 OTTHUMG00000024216 uc065buh.1 BC033746 NM_198452 "CCDS48189|CCDS35503" Q6P2M8 "11034105|23634203" MGI:1347357 RGD:69249 300680 objectId:2172 2.7.11.17 HGNC:13415 "ENST00000340888.8|NM_001366977.1" +HGNC:21222 PNISR PNN interacting serine and arginine rich protein protein-coding gene gene with protein product Approved 6q16.2 06q16.2 "FLJ14752|bA98I9.2|DKFZp564B0769|SRrp130" "C6orf111|SFRS18" "chromosome 6 open reading frame 111|splicing factor, arginine/serine-rich 18" 2003-11-25 2011-06-06 2016-06-06 2016-10-05 25957 ENSG00000132424 OTTHUMG00000015262 uc003ppo.5 AK027759 NM_032870 CCDS5043 Q8TF01 14578391 MGI:1913875 RGD:1307395 616653 HGNC:21222 "ENST00000369239.10|NM_032870.4" +HGNC:40958 PNISR-AS1 PNISR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q16.2 06q16.2 Antisense RNAs 1987 2022-01-07 2022-01-07 101927365 ENSG00000228506 OTTHUMG00000015263 NR_125843 +HGNC:9153 PNKD PNKD metallo-beta-lactamase domain containing protein-coding gene gene with protein product Approved 2q35 02q35 "DYT8|PDC|DKFZp564N1362|FPD1|MR-1|BRP17|FKSG19|TAHCCP2|KIAA1184|KIPP1184|MGC31943|PKND1|MR-1S" myofibrillogenesis regulator 1 "paroxysmal nonkinesiogenic dyskinesia|PNKD, MBL domain containing" "Mitochondrial respiratory chain complex assembly factors|MBL domain containing glyoxalase 2 subfamily|MicroRNA protein coding host genes" "645|1614|1691" 1996-09-13 2019-01-25 2019-01-25 25953 ENSG00000127838 OTTHUMG00000133110 uc002vhn.4 NM_001077399 "CCDS42816|CCDS2411|CCDS2413" Q8N490 "8659518|28199844" MGI:1930773 RGD:2300155 609023 159984 HGNC:9153 "ENST00000273077.9|NM_015488.5" HGNC:9153 +HGNC:49628 PNKDP1 PNKD pseudogene 1 pseudogene pseudogene Approved Xq26.2 Xq26.2 2014-01-24 2014-01-28 100506715 ENSG00000228089 OTTHUMG00000022418 NG_030161 PGOHUM00000241548 HGNC:49628 +HGNC:9154 PNKP polynucleotide kinase 3'-phosphatase protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PNK HAD Asp-based non-protein phosphatases 1045 1999-12-22 2021-05-26 11284 ENSG00000039650 OTTHUMG00000183261 uc002pqj.4 AF126486 NM_007254 CCDS12783 Q96T60 "10446192|10446193" MGI:1891698 RGD:1303331 605610 229787 HGNC:9154 "ENST00000322344.8|NM_007254.4" HGNC:9154 +HGNC:21185 PNLDC1 PARN like ribonuclease domain containing exonuclease 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ40240|dJ195P10.2|Trimmer" "poly(A)-specific ribonuclease (PARN)-like domain containing 1|PARN like, ribonuclease domain containing 1" PARN exonuclease family 2052 2003-05-22 2021-04-15 2021-04-15 154197 ENSG00000146453 OTTHUMG00000015941 uc003qsy.3 AK097559 NM_173516 "CCDS64561|CCDS5271" Q8NA58 "27515512|29444933" MGI:2685159 RGD:1308678 619529 3.1.13.4 HGNC:21185 "ENST00000392167.4|NM_001271862.2" +HGNC:9155 PNLIP pancreatic lipase protein-coding gene gene with protein product Approved 10q25.3 10q25.3 PL triacylglycerol lipase Lipases 464 1991-07-24 2019-07-10 5406 ENSG00000175535 OTTHUMG00000019103 uc001lcm.4 BC014309 NM_000936 CCDS7594 P16233 1783385 MGI:97722 RGD:3360 246600 420549 objectId:2590 3.1.1.3 HGNC:9155 "ENST00000369221.2|NM_000936.4" HGNC:9155 +HGNC:45264 PNLIPP1 pancreatic lipase pseudogene 1 pseudogene pseudogene Approved 10q25.3 10q25.3 2013-03-12 2013-03-12 100419068 ENSG00000232091 OTTHUMG00000019102 NG_025542 PGOHUM00000238931 HGNC:45264 +HGNC:9156 PNLIPRP1 pancreatic lipase related protein 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 PLRP1 1994-04-28 2016-02-12 2016-10-05 5407 ENSG00000187021 OTTHUMG00000019109 uc001lco.2 BC025784 NM_006229 CCDS7595 P54315 1379598 MGI:97723 RGD:620792 604422 HGNC:9156 "ENST00000358834.9|NM_006229.4" +HGNC:9157 PNLIPRP2 pancreatic lipase related protein 2 (gene/pseudogene) protein-coding gene gene with protein product Approved 10q25.3 10q25.3 PLRP2 pancreatic lipase related protein 2 Lipases 464 1994-04-28 2016-02-12 2016-02-12 5408 ENSG00000266200 OTTHUMG00000181599 uc031wuh.2 M93284 NM_005396 P54317 1379598 MGI:1336202 RGD:620793 604423 3.1.1.3 HGNC:9157 +HGNC:23492 PNLIPRP3 pancreatic lipase related protein 3 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 Lipases 464 2004-05-27 2016-02-12 2018-11-19 119548 ENSG00000203837 OTTHUMG00000019100 uc001lcl.5 BC015840 NM_001011709 CCDS31292 Q17RR3 3.1.1.3 HGNC:23492 "ENST00000369230.4|NM_001011709.3" +HGNC:9158 PNMA1 PNMA family member 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 MA1 "paraneoplastic antigen MA1|paraneoplastic Ma antigen 1" Paraneoplastic Ma antigens 671 1999-09-17 2017-09-15 2017-09-15 9240 ENSG00000176903 OTTHUMG00000169183 uc001xor.2 AF037364 NM_006029 CCDS9818 Q8ND90 10050892 MGI:2180564 RGD:621230 604010 HGNC:9158 "ENST00000316836.5|NM_006029.5" +HGNC:9159 PNMA2 PNMA family member 2 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "MA2|RGAG2" "paraneoplastic antigen MA2|paraneoplastic Ma antigen 2" Paraneoplastic Ma antigens 671 1999-09-17 2017-09-15 2017-09-15 10687 ENSG00000240694 OTTHUMG00000163816 uc003xez.3 NM_007257 CCDS34868 Q9UL42 10362822 MGI:2444129 RGD:1307266 603970 HGNC:9159 "ENST00000522362.7|NM_007257.6" +HGNC:18742 PNMA3 PNMA family member 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "MA5|MA3|MGC132756|MGC132758" paraneoplastic cancer-testis-brain antigen "paraneoplastic antigen MA3|paraneoplastic Ma antigen 3" Paraneoplastic Ma antigens 671 2002-08-01 2017-09-15 2020-04-02 29944 ENSG00000183837 OTTHUMG00000024195 uc033far.2 AF083116 NM_013364 "CCDS65344|CCDS35435" Q9UL41 11558790 MGI:2180565 RGD:1563752 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PNMA3 300675 HGNC:18742 "ENST00000593810.3|NM_013364.6" +HGNC:18743 PNMA5 PNMA family member 5 protein-coding gene gene with protein product Approved Xq28 Xq28 KIAA1934 paraneoplastic antigen family 5 "paraneoplastic antigen like 5|paraneoplastic Ma antigen family member 5" Paraneoplastic Ma antigens 671 2002-08-01 2017-09-15 2020-04-02 114824 ENSG00000198883 OTTHUMG00000024184 uc022chm.2 AB067521 NM_052926 CCDS14718 Q96PV4 16214224 MGI:2180566 RGD:1565857 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PNMA5 300916 HGNC:18743 "ENST00000535214.6|NM_001184924.2" +HGNC:28248 PNMA6A PNMA family member 6A protein-coding gene gene with protein product Approved Xq28 Xq28 MGC15827 PNMA6C "paraneoplastic antigen like 6A|paraneoplastic Ma antigen family member 6C|paraneoplastic antigen like 6C|paraneoplastic Ma antigen family member 6A" Paraneoplastic Ma antigens 671 2004-06-17 2017-09-15 2020-04-02 84968 ENSG00000235961 OTTHUMG00000186485 uc011myl.4 AK055322 NM_032882 CCDS14719 P0CW24 14702039 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PNMA6A 300917 HGNC:28248 "ENST00000421798.5|NM_032882.6" +HGNC:26681 PNMA6B PNMA family member 6B (pseudogene) pseudogene pseudogene Approved Xq28 Xq28 PNMA6D "paraneoplastic antigen like 6B|paraneoplastic Ma antigen family member 6B|paraneoplastic Ma antigen family member 6D (pseudogene)|paraneoplastic antigen like 6D|paraneoplastic Ma antigen family member 6D|paraneoplastic Ma antigen family member 6B (pseudogene)" Paraneoplastic Ma antigens 671 2006-07-04 2017-09-15 2020-04-20 728513 ENSG00000268883 OTTHUMG00000186486 NG_033733 HGNC:26681 +HGNC:50767 PNMA6E PNMA family member 6E protein-coding gene gene with protein product Approved Xq28 Xq28 paraneoplastic Ma antigen family member 6E Paraneoplastic Ma antigens 671 2017-02-13 2017-09-15 2020-06-15 649238 ENSG00000214897 OTTHUMG00000024197 NM_001351293 CCDS87793 A0A0J9YXQ4 27250503 PGOHUM00000241609 HGNC:50767 "ENST00000445091.3|NM_001367770.1" +HGNC:53119 PNMA6F PNMA family member 6F protein-coding gene gene with protein product Approved Xq28 Xq28 PNMA6BL paraneoplastic Ma antigen family member 6F Paraneoplastic Ma antigens 671 2017-02-13 2017-09-15 2020-04-20 105373377 ENSG00000225110 OTTHUMG00000067448 NM_001354980 CCDS87792 A0A0J9YX94 "27225868|27250503" HGNC:53119 "ENST00000436629.3|NM_001354980.2" +HGNC:25578 PNMA8A PNMA family member 8A protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "KIAA1183L|FLJ10781" PNMAL1 "PNMA-like 1|paraneoplastic Ma antigen family like 1|paraneoplastic Ma antigen family member 8A" Paraneoplastic Ma antigens 671 2007-12-13 2017-03-31 2017-09-15 2017-09-15 55228 ENSG00000182013 OTTHUMG00000169421 uc002peq.5 BC026026 NM_018215 "CCDS33059|CCDS46124" Q86V59 12477932 MGI:1918941 RGD:1310803 HGNC:25578 "ENST00000313683.15|NM_018215.4" +HGNC:29206 PNMA8B PNMA family member 8B protein-coding gene gene with protein product Approved 19q13.32 19q13.32 KIAA1183 PNMAL2 "PNMA-like 2|paraneoplastic Ma antigen family like 2|paraneoplastic Ma antigen family member 8B" Paraneoplastic Ma antigens 671 2007-12-13 2017-03-31 2017-09-15 2017-09-15 57469 ENSG00000204851 OTTHUMG00000183426 uc002pes.3 AB033009 NM_020709 CCDS59400 Q9ULN7 10574461 MGI:3645856 RGD:1560435 HGNC:29206 "ENST00000599531.2|NM_020709.3" +HGNC:53427 PNMA8C PNMA family member 8C protein-coding gene gene with protein product Approved 19q13.32 19q13.32 paraneoplastic Ma antigen family member 8C Paraneoplastic Ma antigens 671 2017-03-31 2017-09-15 2017-09-15 110806277 ENSG00000277531 OTTHUMG00000186767 NM_001386793 A0A1B0GUJ8 MGI:5625257 "ENST00000617053.3|NM_001386793.1" +HGNC:9160 PNMT phenylethanolamine N-methyltransferase protein-coding gene gene with protein product Approved 17q12 17q12 PENT 7BS small molecule methyltransferases 2063 1988-08-12 2015-08-25 5409 ENSG00000141744 OTTHUMG00000133209 uc002hsi.3 NM_002686 CCDS11343 P11086 3372503 MGI:97724 RGD:3361 171190 470894 objectId:2496 2.1.1.28 HGNC:9160 "ENST00000269582.3|NM_002686.4" +HGNC:9162 PNN pinin, desmosome associated protein protein-coding gene gene with protein product Approved 14q21.1 14q21.1 memA 1997-12-10 2014-11-19 5411 ENSG00000100941 OTTHUMG00000028821 uc001wuw.5 U77718 NM_002687 CCDS9671 Q9H307 8922384 MGI:1100514 RGD:1597086 603154 HGNC:9162 "ENST00000216832.9|NM_002687.4" +HGNC:55974 PNN-AS1 PNN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Antisense RNAs 1987 2021-11-11 2021-11-11 123466206 ENSG00000259083 +HGNC:32790 PNO1 partner of NOB1 homolog protein-coding gene gene with protein product Approved 2p14 02p14 RRP20 RNA binding protein KHRBP1 "KH-type RNA binding protein 1|KH-type RNA-binding protein 1|partner of NOB1 homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2006-11-06 2015-07-09 2019-02-18 56902 ENSG00000115946 OTTHUMG00000129563 uc002seh.5 AF164799 NM_020143 CCDS1885 Q9NRX1 15497447 MGI:1913499 RGD:727882 618710 HGNC:32790 "ENST00000263657.7|NM_020143.4" +HGNC:9163 PNOC prepronociceptin protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "PPNOC|N/OFQ|NOP" "nocistatin|orphanin FQ" Neuropeptides 1902 1996-05-28 2016-10-05 5368 ENSG00000168081 OTTHUMG00000102125 uc003xgp.5 NM_006228 "CCDS6066|CCDS64862" Q13519 "8710928|10101606" MGI:105308 RGD:3362 601459 ligandId:1681 HGNC:9163 "ENST00000301908.8|NM_006228.5" +HGNC:7892 PNP purine nucleoside phosphorylase protein-coding gene gene with protein product Approved 14q11.2 14q11.2 PUNP NP nucleoside phosphorylase 2001-06-22 2009-12-02 2009-12-02 2021-04-13 4860 ENSG00000198805 OTTHUMG00000029546 uc001vxo.5 NM_000270.2 CCDS9552 P00491 6087295 "MGI:97365|MGI:3712328" RGD:1597189 "NPbase: Mutation registry for PNP deficiency|http://structure.bmc.lu.se/idbase/NPbase/|LRG_91|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_91.xml" 164050 123864 objectId:2841 2.4.2.1 HGNC:7892 "ENST00000361505.10|NM_000270.4" HGNC:7892 +HGNC:21246 PNPLA1 patatin like phospholipase domain containing 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "FLJ38755|dJ50J22.1" patatin-like phospholipase domain containing 1 Patatin like phospholipase domain containing 466 2003-05-29 2015-11-23 2021-05-26 285848 ENSG00000180316 OTTHUMG00000014590 uc003olw.2 NM_173676 "CCDS54997|CCDS47416|CCDS34438" Q8N8W4 "16799181|19029121" MGI:3617850 RGD:1306685 612121 322097 HGNC:21246 "ENST00000636260.2|NM_001374623.1" HGNC:21246 +HGNC:30802 PNPLA2 patatin like phospholipase domain containing 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "desnutrin|TTS-2.2|ATGL|FP17548|iPLA2zeta" patatin-like phospholipase domain containing 2 "Lipases|Patatin like phospholipase domain containing" "464|466" 2004-09-06 2015-11-23 2015-11-23 57104 ENSG00000177666 OTTHUMG00000133309 uc001lrt.4 AJ278475 NM_020376 CCDS7718 Q96AD5 "8619474|16799181|19029121" MGI:1914103 RGD:1309044 609059 138475 3.1.1.3 HGNC:30802 "ENST00000336615.9|NM_020376.4" HGNC:30802 +HGNC:18590 PNPLA3 patatin like phospholipase domain containing 3 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "dJ796I17.1|FLJ22012|adiponutrin|iPLA2epsilon" "C22orf20|ADPN" "chromosome 22 open reading frame 20|adiponutrin|patatin-like phospholipase domain containing 3" "Lipases|Patatin like phospholipase domain containing" "464|466" 2002-04-29 2006-05-26 2015-11-23 2015-11-23 80339 ENSG00000100344 OTTHUMG00000150555 uc003bei.1 NM_025225 CCDS14054 Q9NST1 "16799181|19029121" MGI:2151796 RGD:1595843 609567 305021 3.1.1.3 HGNC:18590 "ENST00000216180.8|NM_025225.3" +HGNC:24887 PNPLA4 patatin like phospholipase domain containing 4 protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 "DXS1283E|GS2|iPLA2eta" patatin-like phospholipase domain containing 4 Patatin like phospholipase domain containing 466 2004-09-06 2015-11-23 2020-04-02 8228 ENSG00000006757 OTTHUMG00000021103 uc011mhq.2 U03886 NM_004650 "CCDS14129|CCDS55368" P41247 "7806223|16799181|19029121" RGD:1562200 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PNPLA4 300102 3.1.1.3 HGNC:24887 "ENST00000381042.9|NM_004650.3" +HGNC:38085 PNPLA4P1 patatin like phospholipase domain containing 4 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 patatin-like phospholipase domain containing 4 pseudogene 1 2010-04-12 2015-11-23 2015-11-23 100462832 ENSG00000235451 OTTHUMG00000036403 NG_024801 PGOHUM00000233963 HGNC:38085 +HGNC:24888 PNPLA5 patatin like phospholipase domain containing 5 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "dJ388M5.4|GS2L" patatin-like phospholipase domain containing 5 Patatin like phospholipase domain containing 466 2004-09-06 2015-11-23 2015-11-23 150379 ENSG00000100341 OTTHUMG00000030779 uc062eyk.1 Z97055 NM_138814 "CCDS14053|CCDS54537" Q7Z6Z6 "16799181|19029121" MGI:1923022 RGD:1307495 611589 HGNC:24888 "ENST00000216177.9|NM_138814.4" +HGNC:16268 PNPLA6 patatin like phospholipase domain containing 6 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "NTE|sws|iPLA2delta|SPG39" neuropathy target esterase patatin-like phospholipase domain containing 6 Patatin like phospholipase domain containing 466 2006-07-05 2015-11-23 2020-04-01 10908 ENSG00000032444 OTTHUMG00000182094 uc002mgq.3 AJ004832 NM_006702 "CCDS54206|CCDS54207|CCDS32891|CCDS59343" Q8IY17 "9576844|16799181|19029121" MGI:1354723 RGD:1564611 603197 158087 HGNC:16268 "ENST00000600737.6|NM_001166114.2" HGNC:16268 +HGNC:24768 PNPLA7 patatin like phospholipase domain containing 7 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "FLJ43070|FLJ31318|FLJ44279|RP11-48C7.2|NTEL1|NTE-R1" C9orf111 "chromosome 9 open reading frame 111|patatin-like phospholipase domain containing 7" Patatin like phospholipase domain containing 466 2004-03-25 2006-06-12 2015-11-23 2015-11-23 375775 ENSG00000130653 OTTHUMG00000020990 uc004cnf.3 AK126267 NM_152286 "CCDS7045|CCDS48070" Q6ZV29 "16799181|12640454|19029121" MGI:2385325 RGD:708466 612122 HGNC:24768 "ENST00000406427.6|NM_001098537.3" +HGNC:28900 PNPLA8 patatin like phospholipase domain containing 8 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "IPLA2G|IPLA2-2|iPLA2gamma" calcium-independent phospholipase A2-gamma patatin-like phospholipase domain containing 8 Patatin like phospholipase domain containing 466 2006-06-12 2015-11-23 2018-07-17 50640 ENSG00000135241 OTTHUMG00000154870 uc003vfj.3 AF217519 NM_015723 "CCDS59075|CCDS59508|CCDS34733" Q9NP80 "10744668|10833412|16799181|19029121" MGI:1914702 RGD:1311444 612123 HGNC:28900 "ENST00000257694.13|NM_001256007.3" HGNC:28900 +HGNC:32928 PNPLA10P patatin like phospholipase domain containing 10 pseudogene pseudogene pseudogene Approved Xq25 Xq25 patatin-like phospholipase domain containing 10 pseudogene Patatin like phospholipase domain containing 466 2006-06-12 2015-11-23 2020-06-25 643773 ENSG00000230538 XM_927062 16799181 HGNC:32928 +HGNC:30260 PNPO pyridoxamine 5'-phosphate oxidase protein-coding gene gene with protein product Approved 17q21.32 17q21.32 PDXPO pyridoxal 5'-phosphate synthase pyridoxine 5'-phosphate oxidase 2004-11-22 2006-07-12 2021-05-26 55163 ENSG00000108439 OTTHUMG00000178295 uc002imo.4 AF468030 NM_018129 CCDS11522 Q9NVS9 "9601034|15182361" MGI:2144151 RGD:621456 603287 160333 1.4.3.5 HGNC:30260 "ENST00000642017.2|NM_018129.4" HGNC:30260 +HGNC:54649 PNPP1 PNP pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2019-11-08 2019-11-08 647275 ENSG00000228209 NG_007299 +HGNC:23166 PNPT1 polyribonucleotide nucleotidyltransferase 1 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "PNPase|OLD35|old-35" "polynucleotide phosphorylase|3'-5' RNA exonuclease" DFNB70 deafness, autosomal recessive 70 2003-09-25 2021-05-26 87178 ENSG00000138035 OTTHUMG00000129335 uc002rzf.4 BC053660 NM_033109 CCDS1856 Q8TCS8 12419256 MGI:1918951 RGD:1307987 610316 317560 HGNC:23166 "ENST00000447944.7|NM_033109.5" HGNC:23166 +HGNC:44468 PNPT1P1 polyribonucleotide nucleotidyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 3p26.2 03p26.2 2012-11-01 2016-10-05 100288506 ENSG00000229241 OTTHUMG00000155238 NG_022194 PGOHUM00000264296 HGNC:44468 +HGNC:44469 PNPT1P2 polyribonucleotide nucleotidyltransferase 1 pseudogene 2 pseudogene pseudogene Approved 7q31.32 07q31.32 2012-11-01 2013-05-20 100533721 ENSG00000233272 OTTHUMG00000157056 NG_028676 PGOHUM00000264371 HGNC:44469 +HGNC:17278 PNRC1 proline rich nuclear receptor coactivator 1 protein-coding gene gene with protein product Approved 6q15 06q15 "B4-2|PRR2" PROL2 "proline rich 2|proline-rich nuclear receptor coactivator 1" 2002-01-03 2003-09-26 2015-11-23 2016-10-05 10957 ENSG00000146278 OTTHUMG00000015191 uc003pmv.4 U03105 NM_006813 CCDS5018 Q12796 7578250 MGI:1917838 RGD:628753 606714 HGNC:17278 "ENST00000336032.4|NM_006813.3" +HGNC:55238 PNRC1-DT PNRC1 divergent transcript non-coding RNA RNA, long non-coding Approved 6q15 06q15 Divergent transcripts 1990 2020-09-16 2020-09-16 118597843 ENSG00000271931 +HGNC:23158 PNRC2 proline rich nuclear receptor coactivator 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 proline-rich nuclear receptor coactivator 2 2003-09-25 2015-11-23 2015-11-23 55629 ENSG00000189266 OTTHUMG00000013891 uc001big.4 AF151042 NM_017761 CCDS246 Q9NPJ4 11574675 MGI:106512 RGD:1642418 611882 HGNC:23158 "ENST00000334351.8|NM_017761.4" +HGNC:51933 PNRC2P1 proline rich nuclear receptor coactivator 2 pseudogene 1 pseudogene pseudogene Approved 1p12 01p12 proline-rich nuclear receptor coactivator 2 pseudogene 1 2015-10-06 2015-11-23 2015-11-23 100131261 ENSG00000228217 OTTHUMG00000013705 NG_023333 HGNC:51933 +HGNC:24488 POC1A POC1 centriolar protein A protein-coding gene gene with protein product Approved 3p21.2 03p21.2 DKFZP434C245 WDR51A "WD repeat domain 51A|POC1 centriolar protein homolog A (Chlamydomonas)" WD repeat domain containing 362 2005-02-01 2010-03-26 2013-08-21 2021-05-26 25886 ENSG00000164087 OTTHUMG00000157817 uc003dcu.4 AL117629 NM_015426 "CCDS2846|CCDS54591|CCDS54592" Q8NBT0 "19109428|22840364" MGI:1917485 RGD:1565004 614783 316081 HGNC:24488 "ENST00000296484.7|NM_015426.5" HGNC:24488 +HGNC:30836 POC1B POC1 centriolar protein B protein-coding gene gene with protein product Approved 12q21.33 12q21.33 "TUWD12|FLJ14923" WDR51B "WD repeat domain 51B|POC1 centriolar protein homolog B (Chlamydomonas)" WD repeat domain containing 362 2005-02-01 2010-03-26 2013-08-21 2021-05-26 282809 ENSG00000139323 OTTHUMG00000169944 uc001tbc.4 AL832918 NM_172240 "CCDS31869|CCDS55859" Q8TC44 19109428 MGI:1918511 RGD:2323942 614784 410502 HGNC:30836 "ENST00000313546.8|NM_172240.3" HGNC:30836 +HGNC:52949 POC1B-AS1 POC1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.33 12q21.33 RP11-734K2.4 Antisense RNAs 1987 2016-12-21 2016-12-21 109729146 ENSG00000270344 OTTHUMG00000184636 NR_146294 27980086 HGNC:52949 +HGNC:42957 POC1B-GALNT4 POC1B-GALNT4 readthrough other readthrough Approved 12q21.33 12q21.33 2011-09-28 2014-11-18 100528030 ENSG00000259075 OTTHUMG00000171333 uc001tbe.4 NM_001199781 MGI:894692 HGNC:42957 +HGNC:26658 POC5 POC5 centriolar protein protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "FLJ35779|MGC120442|MGC120443|MGC120444|hPOC5" C5orf37 "chromosome 5 open reading frame 37|POC5 centriolar protein homolog (Chlamydomonas)" 2007-02-06 2010-03-26 2013-08-05 2013-08-05 134359 ENSG00000152359 OTTHUMG00000162487 uc003keh.5 AK093098 NM_152408 "CCDS47237|CCDS47236" Q8NA72 19349582 MGI:1914713 RGD:1310597 617880 HGNC:26658 "ENST00000428202.7|NM_001099271.2" HGNC:26658 +HGNC:23174 PODN podocan protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "PCAN|PODOCAN|MGC24995|SLRR5A" podocan proteoglycan Small leucine rich repeat proteoglycans 573 2003-10-15 2014-11-19 127435 ENSG00000174348 OTTHUMG00000008934 uc001cuv.4 AY313607 NM_153703 "CCDS573|CCDS55602" Q7Z5L7 MGI:2674939 RGD:7545693 608661 HGNC:23174 "ENST00000312553.10|NM_153703.5" +HGNC:26275 PODNL1 podocan like 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "FLJ23447|SLRR5B" 2006-08-21 2016-06-22 2017-11-03 79883 ENSG00000132000 OTTHUMG00000181853 uc002mxr.4 AK027100 NM_024825 "CCDS54225|CCDS54226|CCDS12300" Q6PEZ8 12477932 MGI:2685352 RGD:1307753 HGNC:26275 "ENST00000588872.3|NM_001370095.3" +HGNC:9171 PODXL podocalyxin like protein-coding gene gene with protein product Approved 7q32.3 07q32.3 "PCLP|Gp200|PC|PODXL1|PDX|gp135" podocalyxin-like 1997-07-11 2016-01-27 2020-09-08 5420 ENSG00000128567 OTTHUMG00000154918 uc003vqw.5 NM_001018111 "CCDS47714|CCDS34755" O00592 "9339384|20706633" MGI:1351317 RGD:621878 602632 474429 HGNC:9171 "ENST00000378555.8|NM_001018111.3" HGNC:9171 +HGNC:17936 PODXL2 podocalyxin like 2 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "PODLX2|endoglycan" endoglycan podocalyxin-like 2 2004-07-21 2016-01-27 2016-01-27 50512 ENSG00000114631 OTTHUMG00000159642 uc003ejq.4 AF219137 NM_015720 CCDS3044 Q9NZ53 10722749 MGI:2442488 RGD:1305815 616627 HGNC:17936 "ENST00000342480.7|NM_015720.4" +HGNC:13711 POF1B POF1B actin binding protein protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "POF|FLJ22792" premature ovarian failure, 1B 2004-06-01 2019-01-21 2020-04-02 79983 ENSG00000124429 OTTHUMG00000021934 uc004eer.3 BC017500 NM_024921 "CCDS14452|CCDS78497" Q8WVV4 "11299520|16773570" MGI:1916943 RGD:1560798 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/POF1B 300603 117921 HGNC:13711 "ENST00000262753.9|NM_024921.4" +HGNC:14988 POFUT1 protein O-fucosyltransferase 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "O-FUT|O-Fuc-T|KIAA0180|FUT12" "peptide-O-fucosyltransferase|GDP-fucose protein O-fucosyltransferase 1" "Fucosyltransferases|MicroRNA protein coding host genes" "434|1691" 2001-10-29 2021-05-26 23509 ENSG00000101346 OTTHUMG00000133268 uc002wxp.4 AF375884 NM_015352 "CCDS13198|CCDS13199" Q9H488 "9023546|9525914" MGI:2153207 RGD:1303001 607491 357019 2.4.1.221 HGNC:14988 "ENST00000375749.8|NM_015352.2" HGNC:14988 +HGNC:14683 POFUT2 protein O-fucosyltransferase 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KIAA0958|FUT13" "peptide-O-fucosyltransferase|GDP-fucose protein O-fucosyltransferase 2" C21orf80 chromosome 21 open reading frame 80 Fucosyltransferases 434 2001-08-24 2004-06-09 2004-06-07 2014-11-19 23275 ENSG00000186866 OTTHUMG00000084874 uc002zhc.4 AJ203079 NM_015227 "CCDS13721|CCDS13719" Q9Y2G5 MGI:1916863 RGD:1307334 610249 2.4.1.221 HGNC:14683 "ENST00000349485.10|NM_133635.6" +HGNC:18800 POGK pogo transposable element derived with KRAB domain protein-coding gene gene with protein product Approved 1q24.1 01q24.1 "KIAA15131|LST003|BASS2|KRBOX2" KRAB box domain containing 2 pogo transposable element with KRAB domain "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 2002-08-29 2017-03-30 2021-04-27 57645 ENSG00000143157 OTTHUMG00000034325 uc001gdt.2 AB040946 NM_017542 CCDS1254 Q9P215 MGI:1918842 RGD:1308951 HGNC:18800 "ENST00000367876.9|NM_017542.5" +HGNC:22954 POGLUT1 protein O-glucosyltransferase 1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "MDS010|MGC32995|9630046K23Rik|MDSRP|hCLP46|KDELCL1|Rumi" KDELC family like 1 "C3orf9|KTELC1" "chromosome 3 open reading frame 9|KTEL (Lys-Tyr-Glu-Leu) containing 1" Glycosyltransferase family 90 443 2005-11-28 2010-09-29 2010-09-29 2021-05-26 56983 ENSG00000163389 OTTHUMG00000159379 uc003ecm.4 BC030614 NM_152305 CCDS2988 Q8NBL1 16524674 MGI:2444232 RGD:1306248 615618 391813 HGNC:22954 "ENST00000295588.9|NM_152305.3" HGNC:22954 +HGNC:19350 POGLUT2 protein O-glucosyltransferase 2 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 "MGC5302|EP58" KDELC1 "KDEL (Lys-Asp-Glu-Leu) containing 1|KDEL motif containing 1" Glycosyltransferase family 90 443 2002-12-16 2019-02-14 2019-02-14 2019-02-15 79070 ENSG00000134901 OTTHUMG00000017307 uc001vpq.5 BC001297 NM_001318732 CCDS9504 Q6UW63 30127001 MGI:1919300 RGD:1304684 611613 HGNC:19350 "ENST00000376004.5|NM_024089.3" +HGNC:39193 POGLUT2P1 POGLUT2 pseudogene 1 pseudogene pseudogene Approved 5q23.3 05q23.3 KDELC1P1 "KDEL (Lys-Asp-Glu-Leu) containing 1 pseudogene 1|KDEL motif containing 1 pseudogene 1" 2010-11-18 2021-03-24 2021-03-24 2021-03-24 100144494 ENSG00000250329 OTTHUMG00000163270 NG_007523 PGOHUM00000235750 HGNC:39193 +HGNC:28496 POGLUT3 protein O-glucosyltransferase 3 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 MGC33424 KDELC2 "KDEL (Lys-Asp-Glu-Leu) containing 2|KDEL motif containing 2" Glycosyltransferase family 90 443 2004-07-27 2019-02-14 2019-02-14 2019-02-15 143888 ENSG00000178202 OTTHUMG00000166535 uc001pkj.3 AF533708 NM_153705 CCDS41711 Q7Z4H8 "12975309|30127001" MGI:1923765 RGD:1562027 618503 HGNC:28496 "ENST00000323468.10|NM_153705.5" +HGNC:18801 POGZ pogo transposable element derived with ZNF domain protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KIAA0461|ZNF635|ZNF280E" "zinc finger protein 280E|putative protein product of Nbla00003" pogo transposable element with ZNF domain "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 2002-08-29 2017-03-30 2021-05-26 23126 ENSG00000143442 OTTHUMG00000012499 uc001eyd.2 AB007930 NM_207171 "CCDS997|CCDS44222|CCDS53365|CCDS998|CCDS53366" Q7Z3K3 10976766 MGI:2442117 RGD:1309980 614787 470896 HGNC:18801 "ENST00000271715.7|NM_015100.4" HGNC:18801 +HGNC:9173 POLA1 DNA polymerase alpha 1, catalytic subunit protein-coding gene gene with protein product Approved Xp22.11-p21.3 Xp22.11-p21.3 p180 "POLA|NSX" "polymerase (DNA directed), alpha|N syndrome (mental retardation, malformations, chromosome breakage)|polymerase (DNA) alpha 1, catalytic subunit" DNA polymerases 535 2001-06-22 2006-09-26 2018-04-23 2021-05-26 5422 ENSG00000101868 OTTHUMG00000021277 uc004dbl.4 NM_016937 "CCDS14214|CCDS83462" P09884 1689958 MGI:99660 RGD:621816 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/POLA1 312040 460832 2.7.7.7 HGNC:9173 "ENST00000379068.8|NM_001330360.2" HGNC:9173 +HGNC:30073 POLA2 DNA polymerase alpha 2, accessory subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FLJ21662 "DNA polymerase alpha subunit B|DNA polymerase alpha 70 kDa subunit" "polymerase (DNA directed), alpha 2 (70kD subunit)|polymerase (DNA) alpha 2, accessory subunit" DNA polymerases 535 2005-01-10 2018-04-23 2018-04-23 23649 ENSG00000014138 OTTHUMG00000165951 uc001odj.4 BC002990 NM_002689 CCDS8098 Q14181 "8223465|11433027" MGI:99690 RGD:621817 HGNC:30073 "ENST00000265465.8|NM_002689.4" +HGNC:9174 POLB DNA polymerase beta protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "polymerase (DNA directed), beta|polymerase (DNA) beta" DNA polymerases 535 2001-06-22 2016-07-11 2016-07-11 5423 ENSG00000070501 OTTHUMG00000164093 uc003xoz.3 NM_002690 CCDS6129 P06746 MGI:97740 RGD:3363 174760 2.7.7.7 HGNC:9174 "ENST00000265421.9|NM_002690.3" +HGNC:9175 POLD1 DNA polymerase delta 1, catalytic subunit protein-coding gene gene with protein product Approved 19q13.3 19q13.3 CDC2 CDC2 homolog (S. cerevisiae) POLD "polymerase (DNA directed), delta 1, catalytic subunit (125kD)|polymerase (DNA) delta 1, catalytic subunit" DNA polymerases 535 1992-02-06 2016-07-26 2021-05-26 5424 ENSG00000062822 OTTHUMG00000183037 uc002psb.6 NM_001256849 "CCDS82381|CCDS12795" P28340 1722322 MGI:97741 RGD:621839 LRG_785|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_785.xml POLD1 174761 365133 HGNC:9175 "ENST00000440232.7|NM_002691.4" HGNC:9175 +HGNC:9176 POLD2 DNA polymerase delta 2, accessory subunit protein-coding gene gene with protein product Approved 7p13 07p13 "Pol delta B subunit (p50)|DNA polymerase delta subunit p50" "polymerase (DNA directed), delta 2, regulatory subunit (50kD)|polymerase (DNA directed), delta 2, regulatory subunit 50kDa|polymerase (DNA) delta 2, accessory subunit" DNA polymerases 535 1995-05-30 2016-07-26 2016-07-26 5425 ENSG00000106628 OTTHUMG00000022909 uc010kxz.5 NM_001127218 CCDS5477 P49005 8530069 MGI:1097163 RGD:1304954 600815 HGNC:9176 "ENST00000610533.6|NM_006230.4" +HGNC:41522 POLD2P1 DNA polymerase delta 2, accessory subunit pseudogene 1 pseudogene pseudogene Approved 5q15 05q15 "polymerase (DNA directed), delta 2, regulatory subunit 50kDa pseudogene 1|polymerase (DNA) delta 2, accessory subunit pseudogene 1" 2011-05-04 2016-07-11 2016-07-11 391811 ENSG00000213730 OTTHUMG00000162647 NG_021890 PGOHUM00000235694 HGNC:41522 +HGNC:20932 POLD3 DNA polymerase delta 3, accessory subunit protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "P66|KIAA0039|P68|PPP1R128" "DNA polymerase delta subunit p66|Pol delta C subunit (p66)|protein phosphatase 1, regulatory subunit 128" "polymerase (DNA-directed), delta 3, accessory subunit|polymerase (DNA) delta 3, accessory subunit" "DNA polymerases|Protein phosphatase 1 regulatory subunits" "535|694" 2003-12-10 2016-07-11 2016-10-05 10714 ENSG00000077514 OTTHUMG00000165621 uc001ovf.3 D26018 NM_006591 "CCDS8233|CCDS86228" Q15054 10219083 MGI:1915217 RGD:1312027 611415 HGNC:20932 "ENST00000263681.7|NM_006591.3" +HGNC:14106 POLD4 DNA polymerase delta 4, accessory subunit protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "p12|POLDS" DNA polymerase delta smallest subunit p12 "polymerase (DNA-directed), delta 4, accessory subunit|polymerase (DNA) delta 4, accessory subunit" DNA polymerases 535 2000-12-04 2016-07-11 2016-10-05 57804 ENSG00000175482 OTTHUMG00000167135 uc001okm.5 AF179890 NM_021173 "CCDS58149|CCDS8158" Q9HCU8 10751307 MGI:1916995 RGD:1308519 611525 HGNC:14106 "ENST00000312419.8|NM_021173.5" +HGNC:23781 POLDIP2 DNA polymerase delta interacting protein 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "PDIP38|DKFZP586F1524" polymerase (DNA-directed), delta interacting protein 2 2004-01-27 2016-07-11 2016-07-11 26073 ENSG00000004142 OTTHUMG00000132065 uc032ezc.2 AF077203 NM_015584 "CCDS76978|CCDS74018" Q9Y2S7 12522211 MGI:1915061 RGD:1307022 611519 HGNC:23781 "ENST00000540200.6|NM_015584.5" +HGNC:23782 POLDIP3 DNA polymerase delta interacting protein 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "PDIP46|KIAA1649|SKAR|PDIP3" S6K1 Aly/REF-like target polymerase (DNA-directed), delta interacting protein 3 RNA binding motif containing 725 2004-01-27 2016-07-11 2017-07-26 84271 ENSG00000100227 OTTHUMG00000150887 uc003bcu.4 NM_032311 "CCDS14038|CCDS74873|CCDS14039" Q9BY77 12522211 MGI:1921076 RGD:1311073 611520 HGNC:23782 "ENST00000252115.10|NM_032311.5" +HGNC:9177 POLE DNA polymerase epsilon, catalytic subunit protein-coding gene gene with protein product Approved 12q24.33 12q24.33 POLE1 DNA polymerase epsilon catalytic subunit A "polymerase (DNA directed), epsilon|polymerase (DNA) epsilon, catalytic subunit" DNA polymerases 535 1992-02-06 2016-07-11 2021-04-13 5426 ENSG00000177084 OTTHUMG00000168045 uc001uks.3 NM_006231 CCDS9278 Q07864 8020968 MGI:1196391 RGD:1594540 LRG_789|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_789.xml POLE 174762 356190 HGNC:9177 "ENST00000320574.10|NM_006231.4" HGNC:9177 +HGNC:9178 POLE2 DNA polymerase epsilon 2, accessory subunit protein-coding gene gene with protein product Approved 14q21.3 14q21.3 DPE2 DNA polymerase epsilon subunit B "polymerase (DNA directed), epsilon 2 (p59 subunit)|polymerase (DNA) epsilon 2, accessory subunit" DNA polymerases 535 1998-07-03 2016-07-11 2021-05-26 5427 ENSG00000100479 OTTHUMG00000170813 uc001wwu.4 AF025840 NM_002692 "CCDS55914|CCDS55915|CCDS32073" P56282 "9405441|9443964" MGI:1197514 RGD:1311962 602670 HGNC:9178 "ENST00000216367.10|NM_002692.4" +HGNC:13546 POLE3 DNA polymerase epsilon 3, accessory subunit protein-coding gene gene with protein product Approved 9q32 09q32 "CHRAC17|Ybl1|p17|CHARAC17|CHRAC2" "histone fold protein CHRAC17|DNA polymerase epsilon p17 subunit|chromatin accessibility complex 17|arsenic transactivated protein|chromatin accessibility complex subunit 2" "polymerase (DNA directed), epsilon 3 (p17 subunit)|polymerase (DNA) epsilon 3, accessory subunit" "DNA polymerases|ATAC complex|Chromatin accessibility complex" "535|1058|1633" 2001-09-21 2016-07-11 2018-07-11 54107 ENSG00000148229 OTTHUMG00000020523 uc004bhn.4 AF261689 NM_017443 CCDS6795 Q9NRF9 "10801849|10880450" MGI:1933378 RGD:1359475 607267 HGNC:13546 "ENST00000374171.5|NM_017443.5" +HGNC:18755 POLE4 DNA polymerase epsilon 4, accessory subunit protein-coding gene gene with protein product Approved 2p12 02p12 p12 "polymerase (DNA-directed), epsilon 4 (p12 subunit)|polymerase (DNA) epsilon 4, accessory subunit" DNA polymerases 535 2002-07-08 2016-07-11 2016-07-11 56655 ENSG00000115350 OTTHUMG00000129971 uc002snf.4 AF261688 NM_019896 CCDS1957 Q9NR33 10801849 MGI:1914229 RGD:1307793 607269 HGNC:18755 "ENST00000483063.2|NM_019896.4" +HGNC:9179 POLG DNA polymerase gamma, catalytic subunit protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "POLG1|POLGA" "polymerase (DNA directed), gamma|polymerase (DNA) gamma, catalytic subunit" "DNA polymerases|MicroRNA protein coding host genes" "535|1691" 1992-02-06 2016-07-11 2021-04-13 5428 ENSG00000140521 OTTHUMG00000149646 uc002bns.5 X98093 NM_002693 CCDS10350 "A0A3B3IS91|P54098" "9465903|32138667" MGI:1196389 RGD:620057 LRG_765|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_765.xml 174763 117925 HGNC:9179 "ENST00000268124.11|NM_002693.3" HGNC:9179 +HGNC:55363 POLG-DT POLG divergent transcript non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Divergent transcripts 1990 2020-11-11 2020-11-11 119545629 ENSG00000261441 +HGNC:9180 POLG2 DNA polymerase gamma 2, accessory subunit protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "MTPOLB|HP55" "polymerase (DNA directed), gamma 2, accessory subunit|polymerase (DNA) gamma 2, accessory subunit" DNA polymerases 535 1999-09-16 2016-07-11 2016-07-11 11232 ENSG00000256525 OTTHUMG00000178899 uc002jei.4 U94703 NM_007215 CCDS32706 Q9UHN1 9153213 MGI:1354947 RGD:1305128 604983 117927 HGNC:9180 "ENST00000539111.7|NM_007215.4" HGNC:9180 +HGNC:9181 POLH DNA polymerase eta protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "RAD30A|XP-V" "polymerase (DNA directed), eta|polymerase (DNA) eta" "DNA polymerases|Xeroderma pigmentosum complementation groups" "535|1125" 1997-09-12 2016-07-11 2021-04-13 5429 ENSG00000170734 OTTHUMG00000014743 uc003ovq.5 AB024313 NM_006502 "CCDS4902|CCDS78147" Q9Y253 "20012583|10385124|10398605" MGI:1891457 RGD:1309893 LRG_470|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_470.xml 603968 117931 HGNC:9181 "ENST00000372236.9|NM_006502.3" HGNC:9181 +HGNC:40459 POLH-AS1 POLH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 RP3-337H4.8 Antisense RNAs 1987 2017-08-30 2017-08-30 111216283 ENSG00000203362 OTTHUMG00000014741 28839111 +HGNC:43967 POLHP1 DNA polymerase eta pseudogene 1 pseudogene pseudogene Approved 2q35 02q35 "polymerase (DNA directed), eta pseudogene 1|polymerase (DNA) eta pseudogene 1" 2012-05-18 2016-07-11 2016-07-11 106480782 ENSG00000232970 OTTHUMG00000154829 NG_045122 PGOHUM00000240518 HGNC:43967 +HGNC:9182 POLI DNA polymerase iota protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "RAD3OB|RAD30B" "polymerase (DNA directed) iota|polymerase (DNA) iota" DNA polymerases 535 2000-01-24 2016-07-11 2016-10-05 11201 ENSG00000101751 OTTHUMG00000132704 uc002lfj.5 NM_007195 "CCDS86670|CCDS11954|CCDS86669" Q9UNA4 17609217 MGI:1347081 RGD:1305212 605252 HGNC:9182 "ENST00000579534.6|NM_007195.3" +HGNC:9183 POLK DNA polymerase kappa protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "POLQ|DINP" "DINB protein|DNA polymerase kappa" DINB1 "polymerase (DNA directed) kappa|polymerase (DNA) kappa" DNA polymerases 535 2000-08-11 2016-07-11 2016-10-05 51426 ENSG00000122008 OTTHUMG00000102107 uc003kdw.4 AB027564 NM_016218 CCDS4030 Q9UBT6 "10887153|10518552" MGI:1349767 RGD:620058 605650 HGNC:9183 +HGNC:9184 POLL DNA polymerase lambda protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "polymerase (DNA directed), lambda|polymerase (DNA) lambda" DNA polymerases 535 2000-02-16 2016-07-11 2016-10-05 27343 ENSG00000166169 OTTHUMG00000018933 uc001kti.3 AF161019 NM_013274 "CCDS76332|CCDS7513" Q9UGP5 17686665 MGI:1889000 RGD:1308053 606343 HGNC:9184 "ENST00000370162.8|NM_001174084.2" +HGNC:9185 POLM DNA polymerase mu protein-coding gene gene with protein product Approved 7p13 07p13 Tdt-N Pol iota "polymerase (DNA directed), mu|polymerase (DNA) mu" "DNA polymerases|MicroRNA protein coding host genes" "535|1691" 2000-02-16 2016-07-11 2016-07-11 27434 ENSG00000122678 OTTHUMG00000155353 uc003tjt.5 AF176097 NM_013284 "CCDS34625|CCDS64636|CCDS64635" Q9NP87 10982892 MGI:1860191 RGD:1308247 606344 HGNC:9185 "ENST00000242248.10|NM_013284.4" +HGNC:18870 POLN DNA polymerase nu protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "polymerase (DNA directed) nu|polymerase (DNA) nu" DNA polymerases 535 2003-10-03 2016-07-11 2016-07-11 353497 ENSG00000130997 OTTHUMG00000090081 uc062uoj.1 AF044578 NM_181808 CCDS3360 Q7Z5Q5 12794064 MGI:2675617 RGD:7675413 610887 HGNC:18870 "ENST00000511885.6|NM_181808.4" +HGNC:9186 POLQ DNA polymerase theta protein-coding gene gene with protein product Approved 3q13.33 03q13.33 POLH "polymerase (DNA directed), theta|polymerase (DNA) theta" DNA polymerases 535 1999-04-15 2016-07-11 2016-10-05 10721 ENSG00000051341 OTTHUMG00000159396 uc003eee.5 AF052573 NM_199420 CCDS33833 O75417 10395804 MGI:2155399 RGD:1309795 POLQ 604419 2.7.7.7 HGNC:9186 "ENST00000264233.6|NM_199420.4" +HGNC:17264 POLR1A RNA polymerase I subunit A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "DKFZP586M0122|FLJ21915|RPO1-4|RPA1|RPA190" polymerase (RNA) I polypeptide A, 194kDa RNA polymerase subunits 726 2003-04-01 2016-07-11 2020-08-19 25885 ENSG00000068654 OTTHUMG00000153165 uc002sqs.4 AK025568 NM_015425 CCDS42706 O95602 9236775 MGI:1096397 RGD:620824 616404 457098 HGNC:17264 "ENST00000263857.11|NM_015425.6" HGNC:17264 +HGNC:20454 POLR1B RNA polymerase I subunit B protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "Rpo1-2|FLJ21921|FLJ10816|RPA2|RPA135" polymerase (RNA) I polypeptide B, 128kDa RNA polymerase subunits 726 2003-04-01 2016-07-11 2020-08-19 84172 ENSG00000125630 OTTHUMG00000131314 uc002thw.4 AK001678 NM_019014 "CCDS62989|CCDS2097|CCDS62988|CCDS46395|CCDS62990" Q9H9Y6 MGI:108014 RGD:620822 602000 2.7.7.6 HGNC:20454 "ENST00000263331.10|NM_019014.6" HGNC:20454 +HGNC:20194 POLR1C RNA polymerase I and III subunit C protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "RPA40|RPA39|RPA5|RPAC1|AC40|RPC40" "polymerase (RNA) I polypeptide C, 30kDa|RNA polymerase I subunit C" RNA polymerase subunits 726 2003-04-01 2018-03-06 2021-05-26 9533 ENSG00000171453 OTTHUMG00000014739 uc003ovn.4 AF008442 NM_004875 "CCDS87408|CCDS4900|CCDS4901" O15160 "11042152|12446911" MGI:103288 RGD:1309689 610060 250183 HGNC:20194 "ENST00000642195.1|NM_203290.4" HGNC:20194 +HGNC:20422 POLR1D RNA polymerase I and III subunit D protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "RPAC2|RPA16|RPO1-3|RPA9|MGC9850|AC19" "polymerase (RNA) I polypeptide D, 16kDa|RNA polymerase I subunit D" RNA polymerase subunits 726 2003-04-01 2018-03-06 2021-05-26 51082 ENSG00000186184 OTTHUMG00000016635 uc001uro.4 "AF077044|BC018528" "NM_015972|NM_152705" "CCDS73555|CCDS9324|CCDS9325" "P0DPB5|P0DPB6" "11042152|12391170" MGI:108403 RGD:1564358 613715 250168 HGNC:20422 "ENST00000302979.5|NM_015972.4" HGNC:20422 +HGNC:17631 POLR1E RNA polymerase I subunit E protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "FLJ13390|PAF53|FLJ13970|RPA49" RNA polymerase I associated factor 53 PRAF1 "polymerase (RNA) I associated factor 1|polymerase (RNA) I polypeptide E, 53kDa" RNA polymerase subunits 726 2005-07-11 2006-03-09 2016-07-11 2020-08-19 64425 ENSG00000137054 OTTHUMG00000019920 uc003zzy.2 AK091294 NM_022490 CCDS6611 Q9GZS1 8641287 MGI:1929022 RGD:1565773 HGNC:17631 "ENST00000377798.9|NM_022490.4" +HGNC:18027 POLR1F RNA polymerase I subunit F protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "RPA43|A43" TWISTNB TWIST neighbor "RNA polymerase subunits|MicroRNA protein coding host genes" "726|1691" 2003-01-22 2020-03-30 2020-03-30 2020-03-30 221830 ENSG00000105849 OTTHUMG00000152497 uc003sup.2 AK090846 NM_001002926 CCDS34606 Q3B726 "12438708|23150253" MGI:106292 RGD:1307824 608312 HGNC:18027 "ENST00000222567.6|NM_001002926.2" +HGNC:24219 POLR1G RNA polymerase I subunit G protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "ASE-1|CAST|PAF49|RPA34|A34.5" "CD3 epsilon associated protein|antisense to ERCC 1" CD3EAP "CD3e antigen, epsilon polypeptide associated protein|CD3e molecule associated protein" RNA polymerase subunits 726 2005-04-21 2020-03-30 2020-03-30 2020-03-30 10849 ENSG00000117877 OTTHUMG00000182120 uc002pbq.1 U86751 NM_012099 "CCDS74397|CCDS12661" O15446 "10373416|9426281|15226435|23150253" MGI:1917583 RGD:1591707 107325 HGNC:24219 "ENST00000309424.8|NM_012099.3" +HGNC:13182 POLR1H RNA polymerase I subunit H protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "hZR14|HTEX-6|tctex-6|RPA12|A12.2" ZNRD1 zinc ribbon domain containing 1 RNA polymerase subunits 726 2000-04-13 2020-03-30 2020-03-30 2020-03-30 30834 ENSG00000066379 OTTHUMG00000031149 uc003npa.5 AF024617 NM_001278785 CCDS4670 Q9P1U0 "8938444|10662553|23150253" MGI:1913386 RGD:1303114 607525 HGNC:13182 "ENST00000332435.10|NM_170783.4" +HGNC:9187 POLR2A RNA polymerase II subunit A protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "POLRA|RPB1" "DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit|RNA polymerase II subunit B1" POLR2 polymerase (RNA) II (DNA directed) polypeptide A, 220kDa RNA polymerase subunits 726 1986-01-01 2016-07-11 2021-05-26 5430 ENSG00000181222 OTTHUMG00000177594 uc060apt.1 NM_000937 P24928 MGI:98086 RGD:1587326 180660 2.7.7.6 HGNC:9187 HGNC:9187 +HGNC:9188 POLR2B RNA polymerase II subunit B protein-coding gene gene with protein product Approved 4q12 04q12 RPB2 polymerase (RNA) II (DNA directed) polypeptide B (140kD) RNA polymerase subunits 726 1992-10-21 2016-07-11 2016-07-11 5431 ENSG00000047315 OTTHUMG00000128771 uc062wwb.1 NM_000938 "CCDS3511|CCDS77915|CCDS77916" P30876 "1518060|8034326" MGI:2388280 RGD:1309477 180661 HGNC:9188 "ENST00000314595.6|NM_000938.3" +HGNC:9189 POLR2C RNA polymerase II subunit C protein-coding gene gene with protein product Approved 16q21 16q21 RPB3 RNA polymerase II subunit 3 polymerase (RNA) II (DNA directed) polypeptide C (33kD) RNA polymerase subunits 726 1993-12-07 2016-07-11 2016-10-05 5432 ENSG00000102978 OTTHUMG00000133464 uc002elt.2 NM_032940 CCDS10782 P19387 8034326 MGI:109299 RGD:1306935 180663 HGNC:9189 "ENST00000219252.10|NM_032940.3" +HGNC:9190 POLR2CP1 RNA polymerase II subunit C pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 POLR2CP polymerase (RNA) II (DNA directed) polypeptide C, pseudogene 2000-05-23 2016-03-01 2016-07-11 2016-07-11 54038 ENSG00000228600 OTTHUMG00000074316 NG_000915 PGOHUM00000239146 HGNC:9190 +HGNC:9191 POLR2D RNA polymerase II subunit D protein-coding gene gene with protein product Approved 2q14.3 02q14.3 RPB4 RNA polymerase II subunit hsRPB4 polymerase (RNA) II (DNA directed) polypeptide D RNA polymerase subunits 726 1993-12-07 2016-07-11 2020-03-10 5433 ENSG00000144231 OTTHUMG00000131531 uc002tpj.4 U85510 NM_004805 CCDS2151 O15514 9528765 MGI:1916491 RGD:1308565 606017 HGNC:9191 "ENST00000272645.9|NM_004805.4" +HGNC:54764 POLR2DP1 POLR2D pseudogene 1 pseudogene pseudogene Approved 2q14.1 02q14.1 2020-01-08 2020-01-08 442042 ENSG00000232090 NG_030148 +HGNC:54765 POLR2DP2 POLR2D pseudogene 2 pseudogene pseudogene Approved 7q31.2 07q31.2 2020-01-08 2020-01-08 116435285 ENSG00000244565 NG_068491 +HGNC:9192 POLR2E RNA polymerase II, I and III subunit E protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "RPB5|RPABC1|XAP4|hRPB25|hsRPB5" DNA directed RNA polymerase II 23 kda polypeptide "polymerase (RNA) II (DNA directed) polypeptide E (25kD)|RNA polymerase II subunit E" RNA polymerase subunits 726 1993-12-07 2020-05-21 2020-05-21 5434 ENSG00000099817 OTTHUMG00000181873 uc002lre.5 NM_002695 CCDS12056 P19388 8034326 MGI:1913670 RGD:1589817 180664 HGNC:9192 "ENST00000615234.5|NM_002695.5" +HGNC:9193 POLR2F RNA polymerase II, I and III subunit F protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "RPB6|HRBP14.4" DNA directed RNA polymerase II 14.4 kda polypeptide "polymerase (RNA) II (DNA directed) polypeptide F|RNA polymerase II subunit F" "RNA polymerase subunits|MicroRNA protein coding host genes" "726|1691" 1993-12-07 2020-05-21 2020-05-21 5435 ENSG00000100142 OTTHUMG00000151160 uc003aul.4 NM_021974 "CCDS87025|CCDS13963|CCDS77673" P61218 8786150 MGI:1349393 RGD:708567 604414 HGNC:9193 "ENST00000442738.7|NM_021974.5" +HGNC:9194 POLR2G RNA polymerase II subunit G protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "hRPB19|hsRPB7|RPB7" polymerase (RNA) II (DNA directed) polypeptide G RNA polymerase subunits 726 1993-12-07 2016-07-11 2016-10-05 5436 ENSG00000168002 OTTHUMG00000167609 uc001nva.4 U20659 NM_002696 CCDS31585 P62487 "7579693|9256063" MGI:1914960 RGD:621284 602013 HGNC:9194 "ENST00000301788.12|NM_002696.3" +HGNC:9195 POLR2H RNA polymerase II, I and III subunit H protein-coding gene gene with protein product Approved 3q27.1 03q27.1 RPB8 "polymerase (RNA) II (DNA directed) polypeptide H|RNA polymerase II subunit H" RNA polymerase subunits 726 1993-12-07 2020-05-21 2020-05-21 5437 ENSG00000163882 OTTHUMG00000156746 uc062qvy.1 NM_006232 "CCDS63862|CCDS63859|CCDS63861|CCDS3264|CCDS63860" P52434 MGI:2384309 RGD:1561203 606023 HGNC:9195 "ENST00000456318.6|NM_006232.5" +HGNC:9196 POLR2I RNA polymerase II subunit I protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "RPB9|hRPB14.5" polymerase (RNA) II (DNA directed) polypeptide I (14.5kD) RNA polymerase subunits 726 1993-12-07 2016-07-11 2016-07-11 5438 ENSG00000105258 OTTHUMG00000181749 uc002ode.4 NM_006233 CCDS12487 P36954 8034326 MGI:1917170 RGD:1309395 180662 2.7.7.6 HGNC:9196 "ENST00000221859.9|NM_006233.5" +HGNC:9197 POLR2J RNA polymerase II subunit J protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "RPB11|hRPB14|RPB11A|RPB11m|POLR2J1" polymerase (RNA) II (DNA directed) polypeptide J (13.3kD) RNA polymerase subunits 726 1993-12-07 2016-07-11 2016-10-05 5439 ENSG00000005075 OTTHUMG00000150387 uc003uzp.2 X98433 NM_006234 CCDS5724 P52435 MGI:109582 RGD:1310198 604150 HGNC:9197 "ENST00000292614.10|NM_006234.6" +HGNC:23208 POLR2J2 RNA polymerase II subunit J2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 RPB11b1 polymerase (RNA) II (DNA directed) polypeptide J2 RNA polymerase subunits 726 2008-08-20 2016-07-11 2016-07-11 246721 ENSG00000228049 OTTHUMG00000150388 uc022ajl.3 NM_032959 CCDS43627 Q9GZM3 15586814 609881 HGNC:23208 +HGNC:33853 POLR2J3 RNA polymerase II subunit J3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 polymerase (RNA) II (DNA directed) polypeptide J3 RNA polymerase subunits 726 2008-08-21 2016-07-11 2016-07-11 548644 ENSG00000168255 OTTHUMG00000150384 uc064gop.1 NM_001097615 CCDS47673 Q9H1A7 15586814 MGI:109582 HGNC:33853 +HGNC:28195 POLR2J4 RNA polymerase II subunit J4, pseudogene pseudogene pseudogene Approved 7p13 07p13 MGC13098 polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene 2008-08-21 2016-07-11 2021-07-20 84820 ENSG00000214783 OTTHUMG00000155253 uc003tjc.2 NR_003655 15586814 HGNC:28195 +HGNC:9198 POLR2K RNA polymerase II, I and III subunit K protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "RPB10alpha|RPB12" "polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa|RNA polymerase II subunit K" RNA polymerase subunits 726 1993-12-07 2020-05-21 2020-05-21 5440 ENSG00000147669 OTTHUMG00000164705 uc003yjf.4 NM_005034 CCDS6285 P53803 MGI:102725 RGD:2319895 606033 HGNC:9198 "ENST00000353107.8|NM_005034.4" +HGNC:42650 POLR2KP1 RNA polymerase II subunit K pseudogene 1 pseudogene pseudogene Approved 12q13.12 12q13.12 polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 1 2011-08-10 2016-07-11 2016-07-11 100874515 ENSG00000258284 OTTHUMG00000169587 NG_032528 PGOHUM00000239769 HGNC:42650 +HGNC:42652 POLR2KP2 RNA polymerase II subunit K pseudogene 2 pseudogene pseudogene Approved 13q14.2 13q14.2 polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 2 2011-08-10 2016-07-11 2016-07-11 100129174 ENSG00000224510 OTTHUMG00000016892 NG_027665 PGOHUM00000256722 HGNC:42652 +HGNC:9199 POLR2L RNA polymerase II, I and III subunit L protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "RPB10beta|RBP10|RPABC5|RPB7.6|hRPB7.6|hsRPB10b" "polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa|RNA polymerase II subunit L" RNA polymerase subunits 726 1993-12-07 2020-05-21 2020-05-21 5441 ENSG00000177700 OTTHUMG00000133316 uc001lsc.4 U37690 NM_021128 CCDS7720 P62875 8786124 MGI:1913741 RGD:1566209 601189 HGNC:9199 "ENST00000322028.5|NM_021128.5" +HGNC:31340 POLR2LP1 RNA polymerase II subunit L pseudogene 1 pseudogene pseudogene Approved 6p21.33 06p21.33 AB023060.6 POLR2LP polymerase (RNA) II (DNA directed) polypeptide L pseudogene 2004-11-25 2016-03-01 2016-07-11 2016-07-11 493825 ENSG00000238211 OTTHUMG00000031249 NG_054878 PGOHUM00000301748 HGNC:31340 +HGNC:14862 POLR2M RNA polymerase II subunit M protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "Gdown|Gdown1" GRINL1A "glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A|polymerase (RNA) II (DNA directed) polypeptide M|polymerase (RNA) II subunit M" RNA polymerase subunits 726 2001-03-28 2011-11-07 2016-07-11 2020-11-19 81488 ENSG00000255529 OTTHUMG00000166486 uc002aet.6 AF326773 NM_001018102 "CCDS42045|CCDS32252" "P0CAP2|Q6EEV4" "16769904|22850672" MGI:107282 RGD:619847 606485 HGNC:14862 "ENST00000299638.8|NM_015532.5" +HGNC:15712 POLR2MP1 POLR2M pseudogene 1 pseudogene pseudogene Approved 4q13.2 04q13.2 GLURR2 "GRINL1B|GCOM2" "glutamate receptor, ionotropic, N-methyl D-aspartate-like 1B|GRINL1B complex locus 2 (pseudogene)" 2001-05-23 2020-12-11 2020-12-11 2020-12-11 339970 ENSG00000227725 OTTHUMG00000160803 AF326970 NG_009901 12063407 608311 HGNC:15712 +HGNC:30074 POLR3A RNA polymerase III subunit A protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "RPC1|RPC155|hRPC155|C160" polymerase (RNA) III (DNA directed) polypeptide A, 155kDa RNA polymerase subunits 726 2004-09-16 2016-07-11 2021-05-26 11128 ENSG00000148606 OTTHUMG00000018550 uc001jzn.4 AF021351 NM_007055 CCDS7354 O14802 "9331371|12391170" MGI:2681836 RGD:1305574 614258 285106 HGNC:30074 "ENST00000372371.8|NM_007055.4" HGNC:30074 +HGNC:30348 POLR3B RNA polymerase III subunit B protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "RPC2|FLJ10388|C128" polymerase (RNA) III (DNA directed) polypeptide B RNA polymerase subunits 726 2004-04-21 2016-07-11 2021-05-26 55703 ENSG00000013503 OTTHUMG00000170077 uc001tlp.3 AY092084 NM_018082 "CCDS9105|CCDS53824" Q9NW08 12391170 MGI:1917678 RGD:1565311 614366 285118 HGNC:30348 "ENST00000228347.9|NM_018082.6" HGNC:30348 +HGNC:30076 POLR3C RNA polymerase III subunit C protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "RPC62|RPC3|C82" polymerase (RNA) III (DNA directed) polypeptide C (62kD) RNA polymerase subunits 726 2004-04-21 2016-07-11 2020-03-10 10623 ENSG00000186141 OTTHUMG00000013753 uc001eoh.3 AJ238234 NM_006468 CCDS72864 Q9BUI4 "9171375|12391170" MGI:1921664 RGD:1311545 617454 HGNC:30076 "ENST00000334163.4|NM_006468.8" +HGNC:1080 POLR3D RNA polymerase III subunit D protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "TSBN51|RPC4|C53" BN51T "BN51 (BHK21) temperature sensitivity complementing|polymerase (RNA) III (DNA directed) polypeptide D, 44kDa" RNA polymerase subunits 726 1989-05-25 2003-04-04 2016-07-11 2020-09-17 661 ENSG00000168495 OTTHUMG00000163778 uc003xbm.4 M17754 NM_001722 CCDS34858 P05423 "12391170|11279001" MGI:1914315 RGD:1311816 187280 HGNC:1080 "ENST00000306433.9|NM_001722.3" +HGNC:45107 POLR3DP1 RNA polymerase III subunit D pseudogene 1 pseudogene pseudogene Approved 10q22.2 10q22.2 polymerase (RNA) III (DNA directed) polypeptide D, 44kDa pseudogene 1 2013-02-15 2016-07-11 2016-07-11 100422384 ENSG00000214626 OTTHUMG00000018507 NG_025523 PGOHUM00000238845 HGNC:45107 +HGNC:30347 POLR3E RNA polymerase III subunit E protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "RPC5|SIN|FLJ10509|C37" polymerase (RNA) III (DNA directed) polypeptide E (80kD) RNA polymerase subunits 726 2004-04-22 2016-07-11 2020-03-10 55718 ENSG00000058600 OTTHUMG00000094779 uc002dkk.5 AY092085 NM_018119 "CCDS58434|CCDS58432|CCDS73845|CCDS10605|CCDS58433" Q9NVU0 "10819331|10521666" MGI:1349452 RGD:1308086 617815 HGNC:30347 "ENST00000299853.10|NM_018119.4" +HGNC:15763 POLR3F RNA polymerase III subunit F protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "RPC39|RPC6|C34" RNA polymerase III C39 subunit polymerase (RNA) III (DNA directed) polypeptide F (39 kDa) "RNA polymerase subunits|MicroRNA protein coding host genes" "726|1691" 2001-09-17 2016-07-11 2020-03-10 10621 ENSG00000132664 OTTHUMG00000031971 uc002wqv.5 U93869 NM_006466 CCDS13135 Q9H1D9 9171375 MGI:1924086 RGD:1306428 617455 HGNC:15763 "ENST00000377603.5|NM_006466.4" +HGNC:30075 POLR3G RNA polymerase III subunit G protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "RPC32|RPC7|C31" polymerase (RNA) III (DNA directed) polypeptide G (32kD) RNA polymerase subunits 726 2004-04-21 2016-07-11 2020-03-10 10622 ENSG00000113356 OTTHUMG00000162809 uc003kjq.3 U93868 NM_006467 CCDS43337 O15318 "9171375|12391170" MGI:1914736 RGD:1593792 617456 HGNC:30075 "ENST00000651687.1|NM_006467.3" +HGNC:28466 POLR3GL RNA polymerase III subunit GL protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "flj32422|MGC3200" "polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like|RNA polymerase III subunit G like" RNA polymerase subunits 726 2005-02-02 2020-05-18 2020-05-18 84265 ENSG00000121851 OTTHUMG00000013739 uc001enp.1 BC004355 NM_032305 "CCDS72875|CCDS81367" Q9BT43 24107381 MGI:1917120 RGD:1582857 617457 HGNC:28466 "ENST00000369314.2|NM_032305.3" +HGNC:23345 POLR3GP1 RNA polymerase III subunit G pseudogene 1 pseudogene pseudogene Approved 14q32.12 14q32.12 polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 1 2014-06-05 2016-07-11 2016-07-11 100422395 ENSG00000268295 OTTHUMG00000183872 NG_027301 PGOHUM00000250113 HGNC:23345 +HGNC:50691 POLR3GP2 RNA polymerase III subunit G pseudogene 2 pseudogene pseudogene Approved 18q21.1 18q21.1 polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 2 2014-06-05 2016-07-11 2016-07-11 100422391 ENSG00000266984 OTTHUMG00000180324 NG_026328 PGOHUM00000249934 HGNC:50691 +HGNC:30349 POLR3H RNA polymerase III subunit H protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "RPC8|KIAA1665|C25" polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) RNA polymerase subunits 726 2004-04-21 2016-07-11 2020-03-10 171568 ENSG00000100413 OTTHUMG00000150971 uc003baf.5 AB051452 NM_138338 "CCDS33651|CCDS14018" Q9Y535 "11258795|12391170" MGI:1926179 RGD:1305889 619801 HGNC:30349 "ENST00000355209.9|NM_001018050.4" HGNC:30349 +HGNC:14121 POLR3K RNA polymerase III subunit K protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "RPC11|C11" polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa RNA polymerase subunits 726 2000-12-21 2016-07-11 2020-03-10 51728 ENSG00000161980 OTTHUMG00000060722 uc002cfi.3 AF051316 NM_016310 CCDS10395 Q9Y2Y1 "9869639|10079944" MGI:1914255 RGD:1587294 606007 HGNC:14121 "ENST00000293860.6|NM_016310.5" +HGNC:39577 POLR3KP1 RNA polymerase III subunit K pseudogene 1 pseudogene pseudogene Approved 13q21.2 13q21.2 polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 1 2011-03-15 2016-07-11 2016-07-11 100289667 ENSG00000232647 OTTHUMG00000017001 NG_023354 PGOHUM00000248413 HGNC:39577 +HGNC:39578 POLR3KP2 RNA polymerase III subunit K pseudogene 2 pseudogene pseudogene Approved 17q25.1 17q25.1 polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 2 2011-03-15 2016-07-11 2017-10-30 390811 ENSG00000265469 OTTHUMG00000178342 NG_023353 PGOHUM00000294217 HGNC:39578 +HGNC:9200 POLRMT RNA polymerase mitochondrial protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "h-mtRPOL|APOLMT|MTRNAP|MTRPOL" "polymerase (RNA) mitochondrial (DNA directed)|polymerase (RNA) mitochondrial" Pentatricopeptide repeat containing 1823 1997-07-11 2016-07-11 2016-07-11 5442 ENSG00000099821 OTTHUMG00000180611 uc002lpf.3 NM_005035 CCDS12036 O00411 9097968 MGI:1915843 RGD:1304599 601778 2.7.7.6 HGNC:9200 "ENST00000588649.7|NM_005035.4" +HGNC:28865 POLRMTP1 RNA polymerase mitochondrial pseudogene 1 pseudogene pseudogene Approved 17q23.2 17q23.2 POLRMTL "polymerase (RNA) mitochondrial (DNA directed)-like|polymerase (RNA) mitochondrial (DNA directed) pseudogene 1|polymerase (RNA) mitochondrial pseudogene 1" 2005-04-11 2010-10-22 2016-07-11 2017-10-30 284167 ENSG00000266066 OTTHUMG00000179254 NG_011773 PGOHUM00000294177 HGNC:28865 +HGNC:19702 POM121 POM121 transmembrane nucleoporin protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "KIAA0618|DKFZP586G1822|DKFZP586P2220|POM121A" "POM121 membrane glycoprotein (rat)|POM121 membrane glycoprotein" Nucleoporins 1051 2002-11-13 2012-03-13 2021-04-27 9883 ENSG00000196313 OTTHUMG00000023527 uc031sxs.3 AB014518 NM_001257190 "CCDS5542|CCDS59059" Q96HA1 "8335683|9734811|17900573" MGI:2137624 RGD:620680 615753 HGNC:19702 "ENST00000434423.5|NM_001387691.1" +HGNC:34004 POM121B POM121 transmembrane nucleoporin B (pseudogene) pseudogene pseudogene Approved 7q11.23 07q11.23 POM121 membrane glycoprotein B (pseudogene) 2008-02-27 2012-03-13 2020-04-20 100288540 ENSG00000205578 OTTHUMG00000156802 NG_013116.1 A6NF01 17900573 MGI:2137624 PGOHUM00000250945 HGNC:34004 +HGNC:34005 POM121C POM121 transmembrane nucleoporin C protein-coding gene gene with protein product Approved 7q11.23 07q11.23 POM121 membrane glycoprotein C 2008-02-27 2012-03-13 2015-09-08 100101267 ENSG00000272391 OTTHUMG00000156238 uc032ztq.2 NM_001099415 CCDS47617 A8CG34 17900573 MGI:2137624 615754 HGNC:34005 "ENST00000615331.5|NM_001099415.3" HGNC:34005 +HGNC:16439 POM121L1P POM121 transmembrane nucleoporin like 1, pseudogene pseudogene pseudogene Approved 22q11.22 22q11.22 POM121-like 2 POM121L1 "POM121 membrane glycoprotein-like 1 (rat)|POM121 membrane glycoprotein-like 1, pseudogene|POM121 transmembrane nucleoporin-like 1, pseudogene" 2002-04-30 2009-01-15 2015-11-23 2015-11-23 25812 ENSG00000183169 OTTHUMG00000151169 NR_024591 Q3SYA9 9074928 HGNC:16439 +HGNC:13973 POM121L2 POM121 transmembrane nucleoporin like 2 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 POM121-L "POM121 membrane glycoprotein-like 2 (rat)|POM121 membrane glycoprotein-like 2|POM121 transmembrane nucleoporin-like 2" 2001-07-20 2015-11-23 2016-10-05 94026 ENSG00000158553 OTTHUMG00000014475 uc011dku.2 AL021808 NM_033482 CCDS59497 Q96KW2 MGI:2684870 RGD:1594366 HGNC:13973 "ENST00000444565.2|NM_033482.4" +HGNC:16440 POM121L3P POM121 transmembrane nucleoporin like 3, pseudogene pseudogene pseudogene Approved 20p11.21 20p11.21 dJ831C21.3 POM121L3 "POM121 membrane glycoprotein (rat homolog)-like 3|POM121 membrane glycoprotein-like 3 (rat)|POM121 membrane glycoprotein-like 3 pseudogene|POM121 membrane glycoprotein-like 3, pseudogene|POM121 transmembrane nucleoporin-like 3, pseudogene" 2001-09-17 2009-01-15 2015-11-23 2021-10-07 651452 ENSG00000167390 OTTHUMG00000032093 AL133466 NG_008187 HGNC:16440 +HGNC:19326 POM121L4P POM121 transmembrane nucleoporin like 4, pseudogene pseudogene pseudogene Approved 22q11.2 22q11.2 "POM121 membrane glycoprotein-like 4 pseudogene (rat)|POM121 membrane glycoprotein-like 4 pseudogene|POM121 transmembrane nucleoporin-like 4 pseudogene" 2002-10-03 2015-11-23 2015-11-23 266697 ENSG00000217261 OTTHUMG00000150756 NR_024592 HGNC:19326 +HGNC:31343 POM121L6P POM121 transmembrane nucleoporin like 6, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 bA239L20.2 "POM121 membrane glycoprotein-like 6 pseudogene (rat)|POM121 membrane glycoprotein-like 6 pseudogene" 2004-03-02 2015-11-23 2016-10-05 729392 ENSG00000243307 OTTHUMG00000150352 NG_008948 PGOHUM00000250199 HGNC:31343 +HGNC:35444 POM121L7P POM121 transmembrane nucleoporin like 7 pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 POM121L7 "POM121 membrane glycoprotein-like 7|POM121 transmembrane nucleoporin-like 7|POM121 transmembrane nucleoporin like 7" 2009-01-15 2016-09-28 2016-09-28 2017-03-09 728418 ENSG00000239511 OTTHUMG00000150783 uc062bxq.1 NG_009026 HGNC:35444 +HGNC:35446 POM121L8P POM121 transmembrane nucleoporin like 8, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 "POM121 membrane glycoprotein-like 8 pseudogene|POM121 transmembrane nucleoporin-like 8 pseudogene" 2009-01-15 2015-11-23 2016-10-05 29797 ENSG00000229266 OTTHUMG00000150759 "AK292222|AK302597" NR_024583 HGNC:35446 +HGNC:30080 POM121L9P POM121 transmembrane nucleoporin like 9, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 "POM121 membrane glycoprotein-like 9, pseudogene|POM121 transmembrane nucleoporin-like 9, pseudogene" 2009-01-15 2015-11-23 2020-04-29 29774 ENSG00000128262 OTTHUMG00000150763 "AL040062|AL117401" NR_003714 HGNC:30080 +HGNC:35448 POM121L10P POM121 transmembrane nucleoporin like 10, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 "POM121 membrane glycoprotein-like 10, pseudogene|POM121 transmembrane nucleoporin-like 10, pseudogene" 2009-01-15 2015-11-23 2015-11-23 646074 ENSG00000224124 OTTHUMG00000150732 BX648116 NR_024593 HGNC:35448 +HGNC:35447 POM121L11P POM121 transmembrane nucleoporin like 11, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 LOC100129643 "POM121 membrane glycoprotein-like 11, pseudogene|POM121 transmembrane nucleoporin-like 11, pseudogene" 2009-01-28 2015-11-23 2015-11-23 100129643 XM_001719478 HGNC:35447 +HGNC:25369 POM121L12 POM121 transmembrane nucleoporin like 12 protein-coding gene gene with protein product Approved 7p12.1 07p12.1 DKFZp564N2472 "POM121 membrane glycoprotein-like 12|POM121 transmembrane nucleoporin-like 12" 2009-05-07 2015-11-23 2015-11-23 285877 ENSG00000221900 OTTHUMG00000155995 uc003tpz.4 NM_182595 CCDS43584 Q8N7R1 MGI:1920677 RGD:2320735 HGNC:25369 "ENST00000408890.6|NM_182595.4" HGNC:25369 +HGNC:42635 POM121L13P POM121 transmembrane nucleoporin like 13, pseudogene pseudogene pseudogene Approved 13q12.3 13q12.3 "POM121 membrane glycoprotein-like 13, pseudogene|POM121 transmembrane nucleoporin-like 13, pseudogene" 2011-09-05 2015-11-23 2015-11-23 100874379 ENSG00000236339 OTTHUMG00000016653 NG_032518 PGOHUM00000249941 HGNC:42635 +HGNC:44414 POM121L14P POM121 transmembrane nucleoporin like 14, pseudogene pseudogene pseudogene Approved 6p11.2 06p11.2 POM121 transmembrane nucleoporin-like 14, pseudogene 2012-10-05 2015-11-23 2015-11-23 727805 ENSG00000218189 OTTHUMG00000014926 PGOHUM00000243651 +HGNC:55894 POM121L15P POM121 transmembrane nucleoporin like 15, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 2021-09-30 2021-09-30 102725072 ENSG00000161103 NR_135922 +HGNC:9201 POMC proopiomelanocortin protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "MSH|POC|CLIP|ACTH|NPP|LPH" "adrenocorticotropin|beta-lipotropin|alpha-melanocyte stimulating hormone|beta-melanocyte stimulating hormone|beta-endorphin|adrenocorticotropic hormone|opiomelanocortin prepropeptide" Neuropeptides 1902 1986-01-01 2008-07-31 2021-05-26 5443 ENSG00000115138 OTTHUMG00000094764 uc002rga.2 NM_001035256 CCDS1717 P01189 "6254047|9620771" MGI:97742 RGD:3366 176830 123421 ligandId:3633 HGNC:9201 "ENST00000395826.7|NM_000939.4" HGNC:9201 +HGNC:19139 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLJ20277|MGAT1.2|LGMD2O" protein O-mannose beta-1,2-N-acetylglucosaminyltransferase MEB "muscle-eye-brain disease|protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase" O-linked N-acetylglucosaminyltransferases 446 2005-06-02 2013-07-31 2021-05-26 55624 ENSG00000085998 OTTHUMG00000007604 uc001cpe.4 NM_017739 "CCDS531|CCDS57995" Q8WZA1 "11742540|12788071" MGI:1915523 RGD:1359396 "POMGNT1 @ LOVD|http://www.LOVD.nl/POMGNT1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=POMGNT1|LRG_701|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_701.xml" 606822 117935 2.4.1.- HGNC:19139 "ENST00000371984.8|NM_017739.4" HGNC:19139 +HGNC:25902 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "FLJ14566|AGO61" protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2 "C3orf39|GTDC2" "chromosome 3 open reading frame 39|glycosyltransferase-like domain containing 2" O-linked N-acetylglucosaminyltransferases 446 2006-01-06 2013-08-22 2013-08-22 2021-05-26 84892 ENSG00000144647 OTTHUMG00000133038 AK092147 NM_032806 CCDS2709 Q8NAT1 "27066570|27932460" MGI:2143424 RGD:1304827 LRG_706|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_706.xml 614828 310474 2.4.1.312 HGNC:25902 "ENST00000344697.3|NM_032806.6" HGNC:25902 +HGNC:26267 POMK protein O-mannose kinase protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "FLJ23356|SgK196" 2013-08-22 2019-04-24 2021-05-26 84197 ENSG00000185900 OTTHUMG00000164100 NM_032237 CCDS6141 Q9H5K3 "16879967|23519211" MGI:1921903 RGD:1310810 615247 352646 HGNC:26267 "ENST00000331373.10|NM_032237.5" HGNC:26267 +HGNC:20330 POMP proteasome maturation protein protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "HSPC014|UMP1" proteassemblin C13orf12 chromosome 13 open reading frame 12 2003-01-29 2006-07-04 2006-07-04 2016-10-05 51371 ENSG00000132963 OTTHUMG00000016652 uc001usf.4 AF077200 NM_015932 CCDS9331 Q9Y244 11042152 MGI:1913787 RGD:1305831 613386 281391 HGNC:20330 "ENST00000380842.5|NM_015932.6" HGNC:20330 +HGNC:55007 POMPP1 POMP pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 101060113 ENSG00000236870 +HGNC:9202 POMT1 protein O-mannosyltransferase 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 LGMD2K dolichyl-phosphate-mannose-protein mannosyltransferase Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 1999-06-25 2016-02-09 2021-05-26 10585 ENSG00000130714 OTTHUMG00000020826 uc004cax.3 AF095136 NM_007171 "CCDS48045|CCDS6943|CCDS43895|CCDS43894" Q9Y6A1 10366449 MGI:2138994 RGD:620078 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/POMT1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=POMT1|LRG_842|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_842.xml" 607423 117939 2.4.1.109 HGNC:9202 "ENST00000402686.8|NM_001077365.2" HGNC:9202 +HGNC:19743 POMT2 protein O-mannosyltransferase 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 LGMD2N Dolichyl-phosphate-mannose--protein mannosyltransferase Dolichyl D-mannosyl phosphate dependent mannosyltransferases 430 2003-01-17 2016-02-09 2021-05-26 29954 ENSG00000009830 OTTHUMG00000171556 uc001xti.3 AF105020 NM_013382 CCDS9857 Q9UKY4 "11162531|12460945" MGI:2444430 RGD:1586427 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/POMT2|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=POMT2|LRG_844|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_844.xml" 607439 117942 2.4.1.109 HGNC:19743 "ENST00000261534.9|NM_013382.7" HGNC:19743 +HGNC:9203 POMZP3 POM121 and ZP3 fusion protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "POM-ZP3|POM121" "POM-ZP3 fusion protein|POM121/ZP3 fusion protein" "POM (POM121 rat homolog) and ZP3 fusion|POM (POM121 homolog, rat) and ZP3 fusion" 2000-03-20 2010-06-24 2016-10-05 22932 ENSG00000146707 OTTHUMG00000023514 uc003uft.4 U10099 NM_012230 "CCDS5590|CCDS43606" Q6PJE2 7789967 MGI:99215 600587 HGNC:9203 "ENST00000310842.9|NM_012230.5" +HGNC:9204 PON1 paraoxonase 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 ESA "esterase A|arylesterase 1" PON Paraoxonases 463 2001-06-22 2014-11-19 5444 ENSG00000005421 OTTHUMG00000153894 uc003uns.4 AF539592 NM_000446 CCDS5638 P27169 "8661009|15450851" MGI:103295 RGD:620062 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 168820 239891 objectId:3052 3.1.1.2 HGNC:9204 "ENST00000222381.8|NM_000446.7" HGNC:9204 +HGNC:9205 PON2 paraoxonase 2 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "paraoxonase nirs|arylesterase 2" Paraoxonases 463 1995-05-25 2014-11-19 5445 ENSG00000105854 OTTHUMG00000153948 uc003unv.4 "M63012|AF001601" NM_000305 "CCDS47644|CCDS5640" Q15165 "8661009|9714608" MGI:106687 RGD:1309954 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602447 239894 objectId:3053 3.1.1.2 HGNC:9205 "ENST00000222572.8|NM_000305.3" HGNC:9205 +HGNC:9206 PON3 paraoxonase 3 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 arylesterase 3 Paraoxonases 463 1995-05-25 2014-11-19 5446 ENSG00000105852 OTTHUMG00000153917 uc064fmn.1 "L48516|AF320003" NM_000940 CCDS5639 Q15166 8661009 MGI:106686 RGD:1302965 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602720 239896 objectId:3054 3.1.1.2 HGNC:9206 "ENST00000265627.10|NM_000940.3" HGNC:9206 +HGNC:30129 POP1 POP1 homolog, ribonuclease P/MRP subunit protein-coding gene gene with protein product Approved 8q22.2 08q22.2 processing of precursors 1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 2004-03-17 2015-07-09 2015-07-09 10940 ENSG00000104356 OTTHUMG00000164635 uc003yij.5 D31765 NM_015029 CCDS6277 Q99575 "10199568|8918471" MGI:1914974 RGD:1308609 602486 265545 HGNC:30129 "ENST00000401707.7|NM_001145860.2" HGNC:30129 +HGNC:30081 POP4 POP4 homolog, ribonuclease P/MRP subunit protein-coding gene gene with protein product Approved 19q12 19q12 RPP29 processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 2004-03-17 2015-07-09 2015-07-09 10775 ENSG00000105171 OTTHUMG00000182020 uc002nsf.3 BC006098 NM_006627 CCDS12416 O95707 "10352175|10024167" MGI:1913411 RGD:1305955 606114 HGNC:30081 "ENST00000585603.6|NM_006627.3" +HGNC:17689 POP5 POP5 homolog, ribonuclease P/MRP subunit protein-coding gene gene with protein product Approved 12q24.31 12q24.31 processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 2004-03-17 2015-07-09 2015-07-09 51367 ENSG00000167272 OTTHUMG00000169023 uc001tys.3 AJ306296 NM_015918 "CCDS9202|CCDS9203" Q969H6 11413139 MGI:2151221 RGD:1311819 609992 HGNC:17689 "ENST00000357500.5|NM_015918.4" +HGNC:19949 POP7 POP7 homolog, ribonuclease P/MRP subunit protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "RPP20|RPP2" ribonuclease P protein subunit p20 "processing of precursor 7, ribonuclease P subunit (S. cerevisiae)|processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)" 2004-03-17 2015-07-09 2016-10-05 10248 ENSG00000172336 OTTHUMG00000044311 uc003uwh.5 U94316 NM_005837 CCDS5704 O75817 9630247 MGI:1921347 RGD:1306413 606113 HGNC:19949 "ENST00000303151.5|NM_005837.3" +HGNC:17648 POPDC2 popeye domain containing 2 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 POP2 2003-05-08 2004-01-15 64091 ENSG00000121577 OTTHUMG00000159438 uc062mvg.1 AF204173 NM_022135 "CCDS2992|CCDS77797" Q9HBU9 10882522 MGI:1930150 RGD:735226 605823 HGNC:17648 "ENST00000493094.6|NM_001369919.2" +HGNC:17649 POPDC3 popeye domain containing 3 protein-coding gene gene with protein product Approved 6q21 06q21 "POP3|MGC22671|bA355M14.1" 2003-05-08 2014-11-19 64208 ENSG00000132429 OTTHUMG00000015293 uc003prb.4 BC022323 NM_022361 CCDS5052 Q9HBV1 10882522 MGI:1930153 RGD:1590760 605824 HGNC:17649 "ENST00000254765.4|NM_022361.5" HGNC:17649 +HGNC:9208 POR cytochrome p450 oxidoreductase protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "CYPOR|FLJ26468" NADPH--hemoprotein reductase P450 (cytochrome) oxidoreductase "MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1691|1835" 1989-06-30 2016-03-15 2019-10-07 5447 ENSG00000127948 OTTHUMG00000130413 uc003udy.4 AF258341 NM_000941 CCDS5579 P16435 2516426 MGI:97744 RGD:68335 PharmVar Pharmacogene Variation Consortium|https://www.pharmvar.org/gene/POR 124015 117944 1.6.2.4 HGNC:9208 "ENST00000461988.6|NM_000941.3" HGNC:9208 +HGNC:17652 PORCN porcupine O-acyltransferase protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "MG61|PORC|PPN|por" DHOF "dermal hypoplasia, focal|porcupine homolog (Drosophila)" Membrane bound O-acyltransferases 1036 2004-05-12 2017-05-16 2021-05-26 64840 ENSG00000102312 OTTHUMG00000024116 uc064yxx.1 AF317058 NM_022825 "CCDS14299|CCDS14298|CCDS14296|CCDS14297" Q9H237 "10866835|12034504|17546030|24798332" MGI:1890212 RGD:1564947 300651 159255 objectId:3145 HGNC:17652 "ENST00000326194.11|NM_203475.3" HGNC:17652 +HGNC:55859 PORCN-DT PORCN divergent transcript non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 Divergent transcripts 1990 2021-09-03 2021-09-03 101927635 ENSG00000224292 NR_135596 +HGNC:16953 POSTN periostin protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "OSF-2|PN|periostin" osteoblast specific factor 2 periostin, osteoblast specific factor Gla domain containing 1250 2004-02-10 2016-04-05 2016-04-05 10631 ENSG00000133110 OTTHUMG00000016751 uc001uwo.5 D13665 NM_006475 "CCDS45034|CCDS66531|CCDS53864|CCDS81764|CCDS66530|CCDS9364" Q15063 "8363580|12235007" MGI:1926321 RGD:1305285 608777 HGNC:16953 "ENST00000379747.9|NM_006475.3" +HGNC:17284 POT1 protection of telomeres 1 protein-coding gene gene with protein product Approved 7q31.33 07q31.33 "hPot1|DKFZp586D211" protection of telomeres 1 homolog (S. pombe) Shelterin complex 1334 2004-08-20 2013-01-21 2021-05-26 25913 ENSG00000128513 OTTHUMG00000157194 uc003vlm.4 AK022580 NM_001042594 CCDS5793 Q9NUX5 "11349150|12391173" MGI:2141503 RGD:1562696 POT1 606478 353330 HGNC:17284 "ENST00000357628.8|NM_015450.3" +HGNC:49459 POT1-AS1 POT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.33 07q31.33 Antisense RNAs 1987 2013-12-05 2021-09-01 401398 ENSG00000224897 OTTHUMG00000157170 BX648695 NR_125718 POT1-AS1 HGNC:49459 +HGNC:33893 POTEA POTE ankyrin domain family member A protein-coding gene gene with protein product Approved 8p11.1 08p11.1 "POTE8|POTE-8|CT104.3" cancer/testis antigen family 104, member 3 A26A1 "ANKRD26-like family A, member 1|POTE ankyrin domain family, member A" POTE ankyrin domain containing 685 2007-11-21 2008-11-26 2015-11-18 2019-06-26 340441 ENSG00000188877 OTTHUMG00000164111 AY462869 NM_001002920 Q6S8J7 "29547645|29698858" "MGI:1914825|MGI:1918231" 608915 HGNC:33893 +HGNC:33734 POTEB POTE ankyrin domain family member B protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "POTE15|POTE-15|CT104.5" cancer/testis antigen family 104, member 5 A26B1 "ANKRD26-like family B, member 1|POTE ankyrin domain family, member B" POTE ankyrin domain containing 685 2007-11-21 2008-11-26 2015-11-18 2020-04-20 100996331 ENSG00000233917 OTTHUMG00000171734 uc032bvc.2 AY465170 NM_207355 CCDS59250 A0A0A6YYL3 "MGI:1914825|MGI:1918202|MGI:1918231|MGI:1923056|MGI:3796981" 608912 HGNC:33734 "ENST00000439682.2|NM_001277304.2" +HGNC:48327 POTEB2 POTE ankyrin domain family member B2 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 POTE ankyrin domain family, member B2 POTE ankyrin domain containing 685 2013-05-24 2015-11-18 2015-11-18 100287399 ENSG00000230031 OTTHUMG00000185829 NM_001277303 CCDS59248 H3BUK9 "MGI:1914825|MGI:1918202|MGI:1918231" HGNC:48327 "ENST00000454856.4|NM_001277303.1" +HGNC:51240 POTEB3 POTE ankyrin domain family member B3 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 POTE ankyrin domain family, member B3 POTE ankyrin domain containing 685 2014-10-08 2015-11-18 2015-11-18 102724631 ENSG00000278522 OTTHUMG00000189222 NM_207355 CCDS73690 A0JP26 MGI:1914825 HGNC:51240 "ENST00000611217.5|NM_207355.5" +HGNC:33894 POTEC POTE ankyrin domain family member C protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "POTE18|POTE-18|DKFZp686J0529|CT104.6" cancer/testis antigen family 104, member 6 A26B2 "ANKRD26-like family B, member 2|POTE ankyrin domain family, member C" POTE ankyrin domain containing 685 2007-11-27 2008-11-26 2015-11-18 2018-11-19 388468 ENSG00000183206 OTTHUMG00000162963 uc010dln.4 BX649118 NM_001137671 CCDS45835 B2RU33 "MGI:1914825|MGI:1918202|MGI:1918231|MGI:1923056|MGI:3796981" RGD:1308454 HGNC:33894 "ENST00000358970.10|NM_001137671.2" +HGNC:23822 POTED POTE ankyrin domain family member D protein-coding gene gene with protein product Approved 21q11.2 21q11.2 "POTE|POTE-21|POTE21|CT104.1" cancer/testis antigen family 104, member 1 "ANKRD21|A26B3" "ankyrin repeat domain 21|ANKRD26-like family B, member 3|POTE ankyrin domain family, member D" POTE ankyrin domain containing 685 2003-12-15 2008-11-26 2015-11-18 2015-11-18 317754 ENSG00000166351 OTTHUMG00000074197 uc002yjb.1 AY172978 NM_174981 CCDS13562 Q86YR6 "12475935|15276201|16364570" MGI:5434474 607549 HGNC:23822 "ENST00000299443.6|NM_174981.6" +HGNC:33895 POTEE POTE ankyrin domain family member E protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "POTE2|POTE-2|A26C1|POTE2gamma|CT104.2" cancer/testis antigen family 104, member 2 A26C1A "ANKRD26-like family C, member 1A|POTE ankyrin domain family, member E" POTE ankyrin domain containing 685 2007-11-21 2008-11-26 2015-11-18 2015-11-18 445582 ENSG00000188219 OTTHUMG00000186974 uc002tsn.3 AY462868 NM_001083538 CCDS46414 Q6S8J3 MGI:1914825 608914 HGNC:33895 "ENST00000683005.1|NM_001083538.3" +HGNC:33905 POTEF POTE ankyrin domain family member F protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "POTEACTIN|POTE2alpha" A26C1B "ANKRD26-like family C, member 1B|POTE ankyrin domain family, member F" POTE ankyrin domain containing 685 2007-11-27 2008-11-26 2015-11-18 2015-11-18 728378 ENSG00000196604 OTTHUMG00000153628 uc010fmh.3 EF523384 NM_001099771 CCDS46409 A5A3E0 17101985 MGI:1914825 RGD:1584390 HGNC:33905 "ENST00000409914.7|NM_001099771.2" +HGNC:41294 POTEF-AS1 POTEF antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 Antisense RNAs 1987 2019-09-19 2019-09-19 105373617 ENSG00000224087 OTTHUMG00000153626 XR_007087238 HGNC:41294 +HGNC:33896 POTEG POTE ankyrin domain family member G protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "POTE14|POTE-14|POTE14alpha|CT104.4" cancer/testis antigen family 104, member 4 A26C2 "ANKRD26-like family C, member 2|POTE ankyrin domain family, member G" POTE ankyrin domain containing 685 2007-11-21 2008-11-26 2015-11-18 2015-11-18 404785 ENSG00000187537 OTTHUMG00000170518 uc032arv.2 NM_001005356 CCDS73610 Q6S5H5 "MGI:1914825|MGI:1918202" RGD:1359470 608916 HGNC:33896 "ENST00000547848.5|NM_001005356.3" +HGNC:133 POTEH POTE ankyrin domain family member H protein-coding gene gene with protein product Approved 22q11.1 22q11.1 "POTE22|CT104.7" cancer/testis antigen family 104, member 7 "ACTBL1|A26C3" "actin, beta-like 1|ANKRD26-like family C, member 3|POTE ankyrin domain family, member H" POTE ankyrin domain containing 685 1999-10-29 2008-11-26 2015-11-18 2020-09-17 23784 ENSG00000198062 OTTHUMG00000140314 uc010gqp.3 AY462874 NM_001136213 CCDS74808 Q6S545 "10591208|15276201|21439273" "MGI:1914825|MGI:1918202|MGI:1918231|MGI:1923056|MGI:3796981" RGD:2323175 608913 HGNC:133 "ENST00000343518.11|NM_001136213.1" +HGNC:40058 POTEH-AS1 POTEH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.1 22q11.1 POTEH antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100852406 ENSG00000236666 OTTHUMG00000140316 uc002zlk.5 AY338953 NR_046571 POTEH-AS1 HGNC:40058 +HGNC:37093 POTEI POTE ankyrin domain family member I protein-coding gene gene with protein product Approved 2q21.1 02q21.1 POTE2beta POTE ankyrin domain family, member I POTE ankyrin domain containing 685 2009-06-04 2015-11-18 2018-11-19 653269 ENSG00000196834 OTTHUMG00000153925 uc031rpa.2 NM_001277406 CCDS59431 P0CG38 16364570 MGI:1914825 HGNC:37093 "ENST00000451531.7|NM_001277406.2" +HGNC:37094 POTEJ POTE ankyrin domain family member J protein-coding gene gene with protein product Approved 2q21.1 02q21.1 POTE2beta POTE ankyrin domain family, member J POTE ankyrin domain containing 685 2009-06-04 2015-11-18 2018-11-19 653781 ENSG00000222038 OTTHUMG00000154050 uc021vor.3 NM_001277083 CCDS59432 P0CG39 16364570 MGI:1914825 HGNC:37094 "ENST00000409602.2|NM_001277083.2" +HGNC:30182 POTEKP POTE ankyrin domain family member K, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 "FKSG30|POTE2delta" "ACTBL3|POTEK" "actin, beta-like 3|POTE ankyrin domain family, member K|POTE ankyrin domain family, member K, pseudogene" POTE ankyrin domain containing 685 2005-04-08 2009-12-14 2015-11-18 2016-10-05 440915 ENSG00000204434 OTTHUMG00000150373 AY014272 NR_033885 Q9BYX7 16364570 611266 HGNC:30182 +HGNC:37096 POTEM POTE ankyrin domain family member M protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "POTE14beta|P704P|ACT" prostate-specific P704P POTE ankyrin domain family, member M POTE ankyrin domain containing 685 2009-06-04 2015-11-18 2015-11-18 641455 ENSG00000222036 OTTHUMG00000170340 uc001vuz.3 NM_001145442 CCDS73609 A6NI47 16364570 "MGI:1914825|MGI:1918202|MGI:1918231|MGI:1923056|MGI:3796981" RGD:1563748 HGNC:37096 "ENST00000547889.6|NM_001145442.1" +HGNC:9210 POU1F1 POU class 1 homeobox 1 protein-coding gene gene with protein product Approved 3p11.2 03p11.2 "GHF-1|POU1F1a|PIT-1" "growth hormone factor 1|pituitary transcript factor 1" PIT1 POU domain class 1, transcription factor 1 POU class homeoboxes and pseudogenes 523 1993-01-12 2007-07-13 2021-05-26 5449 ENSG00000064835 OTTHUMG00000158992 uc003dqq.2 D10216 NM_000306 "CCDS46873|CCDS2919" P28069 1956794 MGI:97588 RGD:3367 173110 8494 117948 HGNC:9210 "ENST00000350375.7|NM_000306.4" HGNC:9210 +HGNC:9211 POU2AF1 POU class 2 homeobox associating factor 1 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "OBF1|BOB1" "POU domain class 2, associating factor 1|POU class 2 associating factor 1" 1995-11-08 2019-03-21 2020-04-01 5450 ENSG00000110777 OTTHUMG00000166659 uc001plg.5 NM_006235 CCDS31675 Q16633 8617501 MGI:105086 RGD:1594728 POU2AF1 601206 317410 HGNC:9211 "ENST00000393067.8|NM_006235.3" +HGNC:30527 POU2AF2 POU class 2 homeobox associating factor 2 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 MGC50104 C11orf53 chromosome 11 open reading frame 53 2006-02-06 2022-03-14 2022-03-14 2022-03-14 341032 ENSG00000150750 OTTHUMG00000166656 uc001plc.4 BC039669 NM_198498 CCDS31674 Q8IXP5 25048349 MGI:1917059 RGD:1562914 HGNC:30527 "ENST00000280325.7|NM_198498.3" +HGNC:9212 POU2F1 POU class 2 homeobox 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 OCT1 OTF1 POU domain class 2, transcription factor 1 POU class homeoboxes and pseudogenes 523 1989-03-09 2007-07-13 2016-04-25 5451 ENSG00000143190 OTTHUMG00000034436 uc001gee.3 BC001664 NM_002697 "CCDS55655|CCDS55656|CCDS1259" P14859 1887216 MGI:101898 RGD:621689 164175 8547 HGNC:9212 "ENST00000367866.7|NM_002697.4" +HGNC:55222 POU2F1-DT POU2F1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q24.2 01q24.2 Divergent transcripts 1990 2020-09-11 2020-09-11 118568815 ENSG00000272205 +HGNC:9213 POU2F2 POU class 2 homeobox 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 OCT2 octamer-binding transcription factor 2 OTF2 POU domain class 2, transcription factor 2 "POU class homeoboxes and pseudogenes|MicroRNA protein coding host genes" "523|1691" 1989-03-08 2007-07-13 2019-08-21 5452 ENSG00000028277 OTTHUMG00000165991 uc002osn.4 NM_001207025 "CCDS56095|CCDS58665|CCDS33035|CCDS56094" P09086 MGI:101897 RGD:621690 164176 8495 HGNC:9213 "ENST00000692977.1|NM_001394376.1" +HGNC:55512 POU2F2-AS1 POU2F2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 Antisense RNAs 1987 2021-03-17 2022-04-07 100505622 ENSG00000254887 NR_038332 +HGNC:19864 POU2F3 POU class 2 homeobox 3 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "OCT11|PLA-1|Skn-1a|Epoc-1" POU domain class 2, transcription factor 3 POU class homeoboxes and pseudogenes 523 2002-11-28 2007-07-13 2014-11-19 25833 ENSG00000137709 OTTHUMG00000166140 uc001pxc.4 AF133895 NM_001244682 "CCDS8431|CCDS58190" Q9UKI9 10473598 MGI:102565 RGD:621691 607394 8496 HGNC:19864 "ENST00000543440.7|NM_014352.4" +HGNC:9214 POU3F1 POU class 3 homeobox 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "OCT6|SCIP" OTF6 POU domain class 3, transcription factor 1 POU class homeoboxes and pseudogenes 523 1994-06-03 2007-07-13 2015-08-25 5453 ENSG00000185668 OTTHUMG00000000485 uc001ccp.2 L26494 NM_002699 CCDS30679 Q03052 8451175 MGI:101896 RGD:619767 602479 8497 HGNC:9214 "ENST00000373012.5|NM_002699.4" +HGNC:9215 POU3F2 POU class 3 homeobox 2 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "POUF3|BRN2|OCT7" OTF7 POU domain class 3, transcription factor 2 POU class homeoboxes and pseudogenes 523 1994-06-03 2007-07-13 2016-10-05 5454 ENSG00000184486 OTTHUMG00000015258 uc003ppe.4 Z11933 NM_005604 CCDS5040 P20265 8441633 MGI:101895 RGD:61946 600494 8498 HGNC:9215 "ENST00000328345.8|NM_005604.4" +HGNC:9216 POU3F3 POU class 3 homeobox 3 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 "BRN1|OTF8" POU domain class 3, transcription factor 3 POU class homeoboxes and pseudogenes 523 1995-03-17 2007-07-13 2021-05-26 5455 ENSG00000198914 OTTHUMG00000153067 uc010ywg.3 NM_006236 CCDS33265 P20264 MGI:102564 RGD:619768 602480 8499 HGNC:9216 "ENST00000361360.4|NM_006236.3" HGNC:9216 +HGNC:9217 POU3F4 POU class 3 homeobox 4 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "BRN4|OTF9|DFNX2" "brain-4|Octamer-binding transcription factor 9" DFN3 POU domain class 3, transcription factor 4 POU class homeoboxes and pseudogenes 523 1994-09-30 2007-07-13 2021-05-26 5456 ENSG00000196767 OTTHUMG00000021919 uc004eeg.3 X82324 NM_000307 CCDS14450 P49335 "7911044|7581392" MGI:101894 RGD:61947 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/POU3F4" 300039 8500 117952 HGNC:9217 "ENST00000644024.2|NM_000307.5" HGNC:9217 +HGNC:9218 POU4F1 POU class 4 homeobox 1 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 RDC-1 BRN3A POU domain class 4, transcription factor 1 POU class homeoboxes and pseudogenes 523 1993-10-21 2007-07-13 2014-11-18 5457 ENSG00000152192 OTTHUMG00000017119 uc001vkv.4 X64624 NM_006237 CCDS31996 Q01851 1357630 MGI:102525 RGD:620074 601632 8501 HGNC:9218 "ENST00000377208.7|NM_006237.4" +HGNC:9219 POU4F2 POU class 4 homeobox 2 protein-coding gene gene with protein product Approved 4q31.22 04q31.22 Brn-3b BRN3B "POU domain, class 4, transcription factor 2|POU domain class 4, transcription factor 2" POU class homeoboxes and pseudogenes 523 1993-10-21 2007-07-13 2016-10-25 5458 ENSG00000151615 OTTHUMG00000162045 uc003ikv.4 U06233 NM_004575 CCDS34074 Q12837 8332509 MGI:102524 RGD:620075 113725 8548 HGNC:9219 "ENST00000281321.3|NM_004575.3" +HGNC:9220 POU4F3 POU class 4 homeobox 3 protein-coding gene gene with protein product Approved 5q32 05q32 BRN3C "DFNA15|DFNA52|DFNA42" "POU domain class 4, transcription factor 3|deafness, autosomal dominant 52|deafness, autosomal dominant 42" POU class homeoboxes and pseudogenes 523 1998-01-07 2007-07-13 2021-05-26 5459 ENSG00000091010 OTTHUMG00000129684 uc003loa.2 U10060 NM_002700 CCDS4281 Q15319 "9506947|27535032" MGI:102523 RGD:1310459 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org/|LRG_1355|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1355.xml" 602460 8502 117957 HGNC:9220 "ENST00000646991.2|NM_002700.3" HGNC:9220 +HGNC:9221 POU5F1 POU class 5 homeobox 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "OCT3|Oct4|MGC22487|OCT-4|Oct3/4" OTF3 POU domain class 5, transcription factor 1 POU class homeoboxes and pseudogenes 523 1992-11-05 2007-07-13 2022-02-11 5460 ENSG00000204531 OTTHUMG00000031206 uc003nsv.4 Z11898 NM_002701 "CCDS75420|CCDS47398|CCDS34391" Q01860 1408763 MGI:101893 RGD:1359491 POU5F1 164177 8634 HGNC:9221 "ENST00000259915.13|NM_002701.6" +HGNC:9223 POU5F1B POU class 5 homeobox 1B protein-coding gene gene with protein product Approved 8q24.21 08q24.21 OTF3C "OTF3P1|POU5F1P1" "POU domain class 5, transcription factor 1 pseudogene 1|POU class 5 homeobox 1 pseudogene 1" POU class homeoboxes and pseudogenes 523 1992-11-05 2009-04-15 2009-04-15 2015-09-07 5462 ENSG00000212993 OTTHUMG00000157807 uc003ysf.4 AF268615 NM_001159542 CCDS55274 Q06416 1408763 MGI:101893 615739 8397 HGNC:9223 +HGNC:33309 POU5F1P2 POU class 5 homeobox 1 pseudogene 2 pseudogene pseudogene Approved 8q22.3 08q22.3 POU domain class 5, transcription factor 1 pseudogene 2 POU class homeoboxes and pseudogenes 523 2007-02-07 2007-07-13 2020-04-20 100129512 ENSG00000253382 OTTHUMG00000164734 NG_006103 8561 PGOHUM00000303338 HGNC:33309 +HGNC:9222 POU5F1P3 POU class 5 homeobox 1 pseudogene 3 pseudogene pseudogene Approved 12p13.31 12p13.31 POU5FLC12 "OTF3L|POU5F1L" "POU domain, class 5, transcription factor 1-like|POU domain class 5, transcription factor 1 pseudogene 3" POU class homeoboxes and pseudogenes 523 1993-01-15 2007-02-07 2007-07-13 2015-02-09 642559 ENSG00000235602 OTTHUMG00000168634 AF268617 NR_036440 8500351 8562 PGOHUM00000291204 HGNC:9222 +HGNC:33310 POU5F1P4 POU class 5 homeobox 1 pseudogene 4 pseudogene pseudogene Approved 1q22 01q22 "POU5FLC1|Oct4-pg4" POU domain class 5, transcription factor 1 pseudogene 4 POU class homeoboxes and pseudogenes 523 2007-02-07 2007-07-13 2015-02-09 645682 ENSG00000237872 OTTHUMG00000014016 NR_034180 8563 PGOHUM00000296585 HGNC:33310 +HGNC:33311 POU5F1P5 POU class 5 homeobox 1 pseudogene 5 pseudogene pseudogene Approved 10q21.3 10q21.3 Oct4-pg5 POU domain class 5, transcription factor 1 pseudogene 5 POU class homeoboxes and pseudogenes 523 2007-02-07 2007-07-13 2014-11-18 100009667 ENSG00000236375 OTTHUMG00000018342 NR_131184 8564 PGOHUM00000238512 HGNC:33311 +HGNC:33312 POU5F1P6 POU class 5 homeobox 1 pseudogene 6 pseudogene pseudogene Approved 3q21.3 03q21.3 POU domain class 5, transcription factor 1 pseudogene 6 POU class homeoboxes and pseudogenes 523 2007-02-07 2007-07-13 2015-02-09 100009668 ENSG00000242551 OTTHUMG00000159808 NG_006105 8565 PGOHUM00000299160 HGNC:33312 +HGNC:33313 POU5F1P7 POU class 5 homeobox 1 pseudogene 7 pseudogene pseudogene Approved 3q11.2 03q11.2 POU domain class 5, transcription factor 1 pseudogene 7 POU class homeoboxes and pseudogenes 523 2007-02-07 2007-07-13 2015-02-09 100009669 ENSG00000248365 OTTHUMG00000160082 NG_006106 8566 PGOHUM00000299506 HGNC:33313 +HGNC:26367 POU5F2 POU domain class 5, transcription factor 2 protein-coding gene gene with protein product Approved 5q15 05q15 "SPRM-1|FLJ25680" POU class homeoboxes and pseudogenes 523 2007-07-13 2016-10-25 134187 ENSG00000248483 OTTHUMG00000162644 uc003kkl.2 NM_153216 CCDS59489 Q8N7G0 7908264 MGI:1922757 RGD:1589456 8633 HGNC:26367 "ENST00000606183.4|NM_153216.2" +HGNC:9224 POU6F1 POU class 6 homeobox 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "BRN5|MPOU|TCFB1" POU domain, class 6, transcription factor 1 POU class homeoboxes and pseudogenes 523 1994-09-30 2007-07-13 2019-04-30 5463 ENSG00000184271 OTTHUMG00000169622 uc001rya.5 AL832881 NM_002702 CCDS81691 Q14863 7908264 MGI:102935 RGD:620615 618043 8398 HGNC:9224 "ENST00000333640.12|NM_001330422.2" +HGNC:21694 POU6F2 POU class 6 homeobox 2 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 RPF-1 Retina-derived POU-domain factor-1 POU domain, class 6, transcription factor 2 POU class homeoboxes and pseudogenes 523 2004-01-29 2007-07-13 2021-12-09 11281 ENSG00000106536 OTTHUMG00000150803 uc064czc.1 U91934 NM_007252 P78424 "8601806|15459955" MGI:2443631 RGD:1584652 609062 8503 117961 HGNC:21694 "ENST00000518318.7|NM_001370959.1" HGNC:21694 +HGNC:40979 POU6F2-AS1 POU6F2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 POU6F2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-08 2012-08-15 2014-11-19 100861520 ENSG00000224122 OTTHUMG00000155277 uc031sxa.2 "AI807878|BX113391" NR_046711 POU6F2-AS1 HGNC:40979 +HGNC:21887 POU6F2-AS2 POU6F2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 FLJ12971 POU6F2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-09-08 2012-08-15 2017-07-05 100689074 ENSG00000233854 OTTHUMG00000155276 uc064czb.1 AK023033 NR_138047 27033944 POU6F2-AS2 HGNC:21887 +HGNC:28884 PP1P pyrophosphatase (inorganic) 1 pseudogene pseudogene pseudogene Approved 3p24.3 03p24.3 2005-01-26 2005-01-26 151842 NG_002639 HGNC:28884 +HGNC:28406 PP2D1 protein phosphatase 2C like domain containing 1 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 FLJ25449 C3orf48 "chromosome 3 open reading frame 48|protein phosphatase 2C-like domain containing 1" 2006-01-16 2011-06-24 2016-01-27 2016-01-27 151649 ENSG00000183977 OTTHUMG00000155393 uc021wtw.2 AK058178 NM_144714 CCDS58817 A8MPX8 12477932 MGI:3612067 RGD:1564811 HGNC:28406 "ENST00000389050.5|NM_001252657.2" +HGNC:9226 PPA1 inorganic pyrophosphatase 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "SID6-8061|Ppase|IOPPP|PP1" "cytosolic inorganic pyrophosphatase|inorganic pyrophosphatase 1|pyrophosphate phospho-hydrolase|inorganic diphosphatase 1" PP "pyrophosphatase (inorganic)|pyrophosphatase (inorganic) 1" 2001-06-22 2005-10-07 2019-07-04 2019-07-04 5464 ENSG00000180817 OTTHUMG00000018399 uc001jqv.2 AF154065 NM_021129 CCDS7299 Q15181 "10542310|975879" MGI:97831 RGD:1589773 179030 3.6.1.1 HGNC:9226 "ENST00000373232.8|NM_021129.4" +HGNC:28883 PPA2 inorganic pyrophosphatase 2 protein-coding gene gene with protein product Approved 4q24 04q24 FLJ20459 pyrophosphatase (inorganic) 2 2005-10-07 2019-07-04 2019-07-04 27068 ENSG00000138777 OTTHUMG00000128781 uc003hxl.4 NM_176869 "CCDS3668|CCDS3669|CCDS34043|CCDS3667" Q9H2U2 11042152 MGI:1922026 RGD:1307965 609988 3.6.1.1 HGNC:28883 "ENST00000341695.10|NM_176869.3" HGNC:28883 +HGNC:9227 PPAN peter pan homolog protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "SSF1|SSF2|SSF|BXDC3" "peter pan (Drosophila) homolog|peter pan homolog (Drosophila)" Small nucleolar RNA protein coding host genes 1835 2000-08-01 2018-08-02 2018-08-02 56342 ENSG00000130810 OTTHUMG00000156826 uc002mmz.3 BC033202 NM_020230 "CCDS86698|CCDS12225" Q9NQ55 10873382 MGI:2178445 RGD:1306325 607793 HGNC:9227 "ENST00000253107.12|NM_020230.7" +HGNC:33526 PPAN-P2RY11 PPAN-P2RY11 readthrough other readthrough Approved 19p13.2 19p13.2 2007-07-31 2016-02-05 692312 ENSG00000243207 OTTHUMG00000150165 uc002mna.4 AJ300588 NM_001040664 MGI:2178445 HGNC:33526 +HGNC:9232 PPARA peroxisome proliferator activated receptor alpha protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "hPPAR|NR1C1" PPAR "peroxisome proliferative activated receptor, alpha|peroxisome proliferator-activated receptor alpha" Peroxisome proliferator activated receptors 2071 1993-11-01 2016-01-27 2016-10-05 5465 ENSG00000186951 OTTHUMG00000150443 uc003bgx.1 L02932 NM_001001928 CCDS33669 Q07869 "7684926|10591208" MGI:104740 RGD:3369 170998 objectId:593 HGNC:9232 "ENST00000407236.6|NM_005036.6" +HGNC:9235 PPARD peroxisome proliferator activated receptor delta protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "NUC1|NUCII|FAAR|NR1C2" "peroxisome proliferative activated receptor, delta|peroxisome proliferator-activated receptor delta" Peroxisome proliferator activated receptors 2071 1996-03-12 2016-01-27 2016-10-05 5467 ENSG00000112033 OTTHUMG00000014567 uc003okm.3 L07592 NM_006238 "CCDS54995|CCDS4803|CCDS54994|CCDS4804" Q03181 1333051 MGI:101884 RGD:3370 600409 objectId:594 HGNC:9235 "ENST00000360694.8|NM_006238.5" +HGNC:9236 PPARG peroxisome proliferator activated receptor gamma protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "PPARG1|PPARG2|NR1C3|PPARgamma" "peroxisome proliferative activated receptor, gamma|peroxisome proliferator-activated receptor gamma" Peroxisome proliferator activated receptors 2071 1996-03-12 2016-01-27 2021-05-26 5468 ENSG00000132170 OTTHUMG00000129764 uc003bwx.4 X90563 NM_005037 CCDS2609 P37231 "7862171|9750197" MGI:97747 RGD:3371 PPARG 601487 117964 objectId:595 HGNC:9236 "ENST00000651735.1|NM_138711.6" HGNC:9236 +HGNC:9237 PPARGC1A PPARG coactivator 1 alpha protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "PGC1|PGC1A|PGC-1alpha" PPARgamma coactivator 1alpha PPARGC1 "peroxisome proliferative activated receptor, gamma, coactivator 1|peroxisome proliferative activated receptor, gamma, coactivator 1, alpha|peroxisome proliferator-activated receptor gamma, coactivator 1 alpha" RNA binding motif containing 725 1999-08-02 2004-02-04 2016-01-27 2016-10-05 10891 ENSG00000109819 OTTHUMG00000097747 uc003gqs.3 AF106698 NM_013261 "CCDS87212|CCDS3429|CCDS87211" Q9UBK2 10585775 MGI:1342774 RGD:620925 604517 363670 HGNC:9237 "ENST00000264867.7|NM_013261.5" +HGNC:30022 PPARGC1B PPARG coactivator 1 beta protein-coding gene gene with protein product Approved 5q32 05q32 "PERC|PGC1B" PPARgamma coactivator 1 beta "peroxisome proliferative activated receptor, gamma, coactivator 1, beta|peroxisome proliferator-activated receptor gamma, coactivator 1 beta" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2004-02-03 2016-01-27 2016-10-05 133522 ENSG00000155846 OTTHUMG00000130055 uc003lrc.4 AF468496 NM_133263 "CCDS54933|CCDS54934|CCDS4298" Q86YN6 "11793024|11854298" MGI:2444934 RGD:727948 608886 HGNC:30022 "ENST00000309241.10|NM_133263.4" +HGNC:9238 PPAT phosphoribosyl pyrophosphate amidotransferase protein-coding gene gene with protein product Approved 4q12 04q12 "GPAT|PRAT" Purinosome 1569 2001-06-22 2015-08-25 5471 ENSG00000128059 OTTHUMG00000128842 uc003hbr.4 NM_002703 CCDS3505 Q06203 MGI:2387203 RGD:620237 172450 C44.001 objectId:2761 2.4.2.14 HGNC:9238 "ENST00000264220.6|NM_002703.5" +HGNC:9239 PPATP1 phosphoribosyl pyrophosphate amidotransferase pseudogene 1 pseudogene pseudogene Approved 3p12.1 03p12.1 1995-11-02 2020-04-20 100289640 ENSG00000241293 OTTHUMG00000158985 NG_022210 8106516 PGOHUM00000237672 HGNC:9239 +HGNC:48738 PPATP2 phosphoribosyl pyrophosphate amidotransferase pseudogene 2 pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-06-07 2016-11-09 100421601 ENSG00000271433 OTTHUMG00000185044 NG_026724 PGOHUM00000304720 HGNC:48738 +HGNC:9240 PPBP pro-platelet basic protein protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "SCYB7|TGB|NAP-2-L1|LA-PF4|MDGF|LDGF|Beta-TG|CTAP3|CXCL7|PBP|b-TG1|TGB1|CTAPIII|NAP-2" "platelet basic protein|beta-thromboglobulin|connective tissue-activating peptide III|neutrophil-activating peptide-2|chemokine (C-X-C motif) ligand 7" THBGB1 Receptor ligands 542 1991-05-21 2015-11-13 2016-10-05 5473 ENSG00000163736 OTTHUMG00000130008 uc003hhj.4 M54995 NM_002704 CCDS3563 P02775 1826003 MGI:1888712 RGD:70548 121010 ligandId:830 HGNC:9240 "ENST00000296028.4|NM_002704.3" +HGNC:9241 PPBPP1 pro-platelet basic protein pseudogene 1 pseudogene pseudogene Approved 4q13.3 04q13.3 TGB2 PPBPL1 pro-platelet basic protein-like 1 1991-10-21 2012-04-20 2012-04-20 2020-04-20 728045 ENSG00000250550 OTTHUMG00000160814 NG_016721 1316786 188035 HGNC:9241 +HGNC:16981 PPBPP2 pro-platelet basic protein pseudogene 2 pseudogene pseudogene Approved 4q13.3 04q13.3 SPBPBP PPBPL2 pro-platelet basic protein-like 2 2004-07-02 2012-04-20 2012-04-20 2014-11-19 10895 ENSG00000248848 OTTHUMG00000160862 L10403 NR_026769 7887923 611591 PGOHUM00000245591 HGNC:16981 +HGNC:28107 PPCDC phosphopantothenoylcysteine decarboxylase protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "MDS018|FLJ14585" 2005-07-25 2014-11-19 60490 ENSG00000138621 OTTHUMG00000142824 uc002azo.4 AK027491 NM_021823 "CCDS73760|CCDS73761|CCDS76781|CCDS73759|CCDS10275" Q96CD2 "12975309|11923312" MGI:1914062 RGD:1306267 609854 4.1.1.36 HGNC:28107 "ENST00000342932.8|NM_021823.5" +HGNC:25686 PPCS phosphopantothenoylcysteine synthetase protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ11838 2005-07-25 2014-11-19 79717 ENSG00000127125 OTTHUMG00000007332 uc001chl.5 AK021900 NM_024664 "CCDS41311|CCDS41312" Q9HAB8 11923312 MGI:1915237 RGD:1311399 609853 6.3.2.5 HGNC:25686 "ENST00000372561.4|NM_024664.4" HGNC:25686 +HGNC:16142 PPDPF pancreatic progenitor cell differentiation and proliferation factor protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "dJ697K14.9|exdpf" exocrine differentiation and proliferation factor C20orf149 "chromosome 20 open reading frame 149|pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish)" 2001-07-17 2009-06-04 2013-07-23 2015-08-25 79144 ENSG00000125534 OTTHUMG00000032978 uc002yff.4 AL121829 NM_001353423 CCDS13523 Q9H3Y8 MGI:1913746 RGD:1310660 HGNC:16142 "ENST00000370179.8|NM_024299.4" +HGNC:31745 PPDPFL pancreatic progenitor cell differentiation and proliferation factor like protein-coding gene gene with protein product Approved 8q11.21 08q11.21 C8orf22 chromosome 8 open reading frame 22 2004-07-05 2017-07-28 2017-07-28 2017-08-17 492307 ENSG00000168333 OTTHUMG00000164217 uc003xqq.6 BC017981 NM_001007176 "CCDS59102|CCDS47854|CCDS59101" Q8WWR9 HGNC:31745 "ENST00000522267.6|NM_001256597.2" +HGNC:9243 PPEF1 protein phosphatase with EF-hand domain 1 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 PPP7CA protein phosphatase 7, catalytic subunit, alpha isozyme PPEF protein phosphatase, EF-hand calcium binding domain 1 "Protein phosphatase catalytic subunits|EF-hand domain containing" "693|863" 1997-01-09 2016-02-26 2020-04-02 5475 ENSG00000086717 OTTHUMG00000021219 uc004cyq.4 BC036026 NM_006240 "CCDS14188|CCDS43920" O14829 "9215685|9326663" MGI:1097157 RGD:1562772 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PPEF1 300109 HGNC:9243 "ENST00000470157.2|NM_001377996.1" +HGNC:40463 PPEF1-AS1 PPEF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.13 Xp22.13 PPEF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874004 ENSG00000237221 OTTHUMG00000021217 uc064yfm.1 NR_046642 PPEF1-AS1 HGNC:40463 +HGNC:9244 PPEF2 protein phosphatase with EF-hand domain 2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 PPP7CB protein phosphatase 7, catalytic subunit, beta isozyme protein phosphatase, EF-hand calcium binding domain 2 "Protein phosphatase catalytic subunits|EF-hand domain containing" "693|863" 1997-11-05 2016-02-26 2016-02-26 5470 ENSG00000156194 OTTHUMG00000160915 uc003hix.4 AF023456 NM_006239 CCDS34013 O14830 "9326663|12051765" MGI:1342304 RGD:1307093 602256 HGNC:9244 "ENST00000286719.12|NM_006239.3" +HGNC:9245 PPFIA1 PTPRF interacting protein alpha 1 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 "LIP.1|LIPRIN" Liprin-alpha1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 "Sterile alpha motif domain containing|MicroRNA protein coding host genes" "760|1691" 1998-10-23 2016-02-10 2016-02-10 8500 ENSG00000131626 OTTHUMG00000167266 uc001opo.4 U22816 NM_003626 "CCDS31628|CCDS31627" Q13136 "7796809|9624153" MGI:1924750 RGD:1309009 611054 HGNC:9245 "ENST00000253925.12|NM_003626.5" +HGNC:54792 PPFIA1P1 PPFIA1 pseudogene 1 pseudogene pseudogene Approved 2q37.1 02q37.1 2020-01-08 2020-01-08 100422710 ENSG00000271639 NG_023767 +HGNC:9246 PPFIA2 PTPRF interacting protein alpha 2 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 Liprin-alpha2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2017-03-27 8499 ENSG00000139220 OTTHUMG00000170181 uc058rji.1 AF034799 NM_001220473 "CCDS55856|CCDS55857|CCDS55855|CCDS55854|CCDS55853|CCDS55852|CCDS55851|CCDS55850|CCDS59236|CCDS73503" O75334 9624153 MGI:2443834 RGD:1305021 603143 HGNC:9246 "ENST00000549396.6|NM_003625.5" +HGNC:53397 PPFIA2-AS1 PPFIA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.31 12q21.31 Antisense RNAs 1987 2017-03-28 2017-03-28 102724663 ENSG00000257467 OTTHUMG00000170246 NR_120491 HGNC:53397 +HGNC:9247 PPFIA3 PTPRF interacting protein alpha 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "KIAA0654|LPNA3|MGC126567|MGC126569" "protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3|liprin-alpha 3|liprin" protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2016-02-10 8541 ENSG00000177380 OTTHUMG00000183213 uc002pmr.5 AF034800 NM_003660 CCDS12758 O75145 "9624153|9734811" MGI:1924037 RGD:620054 603144 HGNC:9247 "ENST00000334186.9|NM_003660.4" +HGNC:9248 PPFIA4 PTPRF interacting protein alpha 4 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 Liprin-alpha4 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2016-02-10 8497 ENSG00000143847 OTTHUMG00000042123 uc057ono.1 AF034801 NM_015053 O75335 9624153 MGI:1915757 RGD:620055 603145 HGNC:9248 "ENST00000295706.9|NM_001304331.2" +HGNC:9249 PPFIBP1 PPFIA binding protein 1 protein-coding gene gene with protein product Approved 12p11.23-p11.22 12p11.23-p11.22 "L2|hSGT2|hSgt2p|SGT2" liprin beta 1 PTPRF interacting protein, binding protein 1 (liprin beta 1) Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2018-02-13 8496 ENSG00000110841 OTTHUMG00000169207 uc001rib.3 AF034802 NM_003622 "CCDS55812|CCDS8713|CCDS55813|CCDS55814" Q86W92 "9624153|11836260" MGI:1914783 RGD:1310010 PPFIBP1 603141 HGNC:9249 "ENST00000228425.11|NM_003622.4" +HGNC:9250 PPFIBP2 PPFIA binding protein 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Cclp1 liprin beta 2 PTPRF interacting protein, binding protein 2 (liprin beta 2) Sterile alpha motif domain containing 760 1998-10-23 2016-02-10 2016-02-10 8495 ENSG00000166387 OTTHUMG00000165617 uc001mfj.6 AF034803 NM_003621 "CCDS58116|CCDS58117|CCDS31419" Q8ND30 9624153 MGI:894649 RGD:1565383 603142 HGNC:9250 "ENST00000299492.9|NM_003621.5" +HGNC:19369 PPHLN1 periphilin 1 protein-coding gene gene with protein product Approved 12q12 12q12 2002-11-04 2020-04-01 51535 ENSG00000134283 OTTHUMG00000169440 uc001rng.2 AY157850 NM_201515 "CCDS55817|CCDS44860|CCDS31777|CCDS44861|CCDS41773|CCDS8741" Q8NEY8 MGI:1917029 RGD:1306207 608150 HGNC:19369 "ENST00000358314.12|NM_201439.2" +HGNC:9253 PPIA peptidylprolyl isomerase A protein-coding gene gene with protein product Approved 7p13 07p13 CYPA cyclophilin A Cyclophilin peptidylprolyl isomerases 909 1991-12-06 2016-01-14 2016-01-14 5478 ENSG00000196262 OTTHUMG00000023687 uc003tlw.4 X52851 NM_021130 "CCDS75592|CCDS5494" P62937 "1989998|2197089" MGI:97749 RGD:3372 123840 objectId:2751 5.2.1.8 HGNC:9253 "ENST00000468812.6|NM_021130.5" +HGNC:24369 PPIAL4A peptidylprolyl isomerase A like 4A protein-coding gene gene with protein product Approved 1p11.2 01p11.2 COAS2 "PPIAL4|PPIAL4B" "peptidylprolyl isomerase A (cyclophilin A)-like 4|peptidylprolyl isomerase A (cyclophilin A)-like 4B" 2005-04-21 2008-09-16 2016-01-14 2020-04-20 653505 ENSG00000263353 OTTHUMG00000185015 uc031upa.2 AB084917 NM_001143883 CCDS76197 Q9Y536 11948409 HGNC:24369 "ENST00000577856.3|NM_001143883.4" +HGNC:33995 PPIAL4C peptidylprolyl isomerase A like 4C protein-coding gene gene with protein product Approved 1q21.2 01q21.2 2008-09-16 2016-01-14 2016-10-05 653598 ENSG00000263464 OTTHUMG00000188675 uc031uxg.1 NM_001135789 CCDS72898 A0A0B4J2A2 HGNC:33995 "ENST00000585245.3|NM_001135789.5" +HGNC:33998 PPIAL4D peptidylprolyl isomerase A like 4D protein-coding gene gene with protein product Approved 1q21.1 01q21.1 2008-09-16 2016-01-14 2016-10-05 645142 ENSG00000256374 OTTHUMG00000078265 uc031usm.2 NM_001164261 CCDS59199 F5H284 HGNC:33998 "ENST00000544708.3|NM_001164261.2" +HGNC:33997 PPIAL4E peptidylprolyl isomerase A like 4E protein-coding gene gene with protein product Approved 1q21.1 01q21.1 2008-09-16 2016-01-14 2016-01-14 730262 ENSG00000271567 OTTHUMG00000189244 uc010paz.2 NM_001144032 CCDS76201 A0A075B759 608608 HGNC:33997 "ENST00000581164.2|NM_001144032.3" +HGNC:33999 PPIAL4F peptidylprolyl isomerase A like 4F protein-coding gene gene with protein product Approved 1q21.1 01q21.1 2008-09-16 2016-01-14 2016-01-14 728945 ENSG00000279782 OTTHUMG00000189245 uc032nbt.2 NM_001164262 CCDS76202 P0DN26 HGNC:33999 "ENST00000581138.4|NM_001164262.3" +HGNC:33996 PPIAL4G peptidylprolyl isomerase A like 4G protein-coding gene gene with protein product Approved 1q21.2 01q21.2 2008-09-16 2016-01-14 2016-10-05 644591 ENSG00000236334 OTTHUMG00000013629 uc001ejt.4 NM_001123068 CCDS41375 P0DN37 RGD:1559682 HGNC:33996 "ENST00000419275.3|NM_001123068.3" +HGNC:53889 PPIAL4H peptidylprolyl isomerase A like 4H protein-coding gene gene with protein product Approved 1q21.1 01q21.1 2018-08-03 2018-08-03 105371242 ENSG00000270339 OTTHUMG00000191983 NM_001368128 A0A075B767 RGD:6493676 HGNC:53889 "ENST00000584068.4|NM_001368128.3" +HGNC:9254 PPIAP1 peptidylprolyl isomerase A pseudogene 1 pseudogene pseudogene Approved 21q21.1 21q21.1 PPIAP peptidylprolyl isomerase A (cyclophilin A), pseudogene 2000-05-23 2010-03-23 2016-01-14 2020-04-20 100288185 ENSG00000215351 OTTHUMG00000078060 NG_000914 PGOHUM00000297231 HGNC:9254 +HGNC:16542 PPIAP2 peptidylprolyl isomerase A pseudogene 2 pseudogene pseudogene Approved 20p11.21 20p11.21 bA384D7.2 2001-09-17 2016-01-14 2017-08-21 170537 ENSG00000227379 OTTHUMG00000032123 AL353812 NG_001048 PGOHUM00000296928 HGNC:16542 +HGNC:16545 PPIAP3 peptidylprolyl isomerase A pseudogene 3 pseudogene pseudogene Approved 20q11.23 20q11.23 bA425M5.2 2001-09-17 2016-01-14 2017-08-21 170539 ENSG00000235044 OTTHUMG00000032425 AL109614 NG_001014 PGOHUM00000297116 HGNC:16545 +HGNC:19935 PPIAP4 peptidylprolyl isomerase A pseudogene 4 pseudogene pseudogene Approved 14q21.1 14q21.1 2003-01-13 2016-01-14 2017-08-21 122552 ENSG00000258591 OTTHUMG00000170750 NG_002483 PGOHUM00000292634 HGNC:19935 +HGNC:20027 PPIAP5 peptidylprolyl isomerase A pseudogene 5 pseudogene pseudogene Approved 14q23.1 14q23.1 2003-01-13 2016-01-14 2017-08-21 122842 ENSG00000258996 OTTHUMG00000171094 NG_002484 PGOHUM00000292685 HGNC:20027 +HGNC:20028 PPIAP6 peptidylprolyl isomerase A pseudogene 6 pseudogene pseudogene Approved 14q24.1 14q24.1 2003-01-13 2016-01-14 2017-08-21 319128 ENSG00000258477 OTTHUMG00000171757 NG_023267 PGOHUM00000292390 HGNC:20028 +HGNC:9270 PPIAP7 peptidylprolyl isomerase A pseudogene 7 pseudogene pseudogene Approved 1p21.2 01p21.2 PPIP7 peptidylprolyl isomerase (cyclophilin) pseudogene 7 1992-07-09 2005-10-20 2016-01-14 2017-08-21 5489 ENSG00000173810 OTTHUMG00000010833 X52858 NG_005171 2197089 PGOHUM00000295769 HGNC:9270 +HGNC:9271 PPIAP8 peptidylprolyl isomerase A pseudogene 8 pseudogene pseudogene Approved 12q23.1 12q23.1 PPIP8 peptidylprolyl isomerase (cyclophilin) pseudogene 8 1992-07-09 2005-10-20 2016-01-14 2017-08-21 341457 ENSG00000225185 OTTHUMG00000170630 NG_011702 PGOHUM00000291441 HGNC:9271 +HGNC:9272 PPIAP9 peptidylprolyl isomerase A pseudogene 9 pseudogene pseudogene Approved 6p21.33 06p21.33 Em:AC006046.3 PPIP9 peptidylprolyl isomerase (cyclophilin) pseudogene 9 1998-02-03 2005-11-04 2016-01-14 2017-08-21 5491 ENSG00000219797 OTTHUMG00000031290 NG_001025 8824804 PGOHUM00000301328 HGNC:9272 +HGNC:9264 PPIAP10 peptidylprolyl isomerase A pseudogene 10 pseudogene pseudogene Approved 20q13.2 20q13.2 CRP cyclophillin related pseudogene "PPIAL2|PPIP10" "peptidylprolyl isomerase A (cyclophilin A)-like 2|peptidylprolyl isomerase (cyclophilin) pseudogene 10" 1998-10-12 2005-10-20 2016-01-14 2017-08-21 140913 ENSG00000224530 OTTHUMG00000032762 AL354993 NG_001008 9671742 PGOHUM00000297144 HGNC:9264 +HGNC:9263 PPIAP11 peptidylprolyl isomerase A pseudogene 11 pseudogene pseudogene Approved 5q14.1 05q14.1 PPIP1 peptidylprolyl isomerase (cyclophilin) pseudogene 1 1992-07-09 2005-11-04 2016-01-14 2016-01-14 5483 ENSG00000251495 OTTHUMG00000162554 X52856 NG_001177 2197089 HGNC:9263 +HGNC:9266 PPIAP13 peptidylprolyl isomerase A pseudogene 13 pseudogene pseudogene Approved 10q22.2 10q22.2 PPIP3 peptidylprolyl isomerase (cyclophilin) pseudogene 3 1992-07-09 2005-11-04 2016-01-14 2017-08-21 5485 ENSG00000237882 OTTHUMG00000018513 X52853 NG_005167 2197089 PGOHUM00000289909 HGNC:9266 +HGNC:9267 PPIAP14 peptidylprolyl isomerase A pseudogene 14 pseudogene pseudogene Approved 18p11.31 18p11.31 PPIP4 peptidylprolyl isomerase (cyclophilin) pseudogene 4 1992-07-09 2005-11-04 2016-01-14 2016-12-07 5486 ENSG00000264775 OTTHUMG00000178431 X52854 NG_005168 2197089 PGOHUM00000294573 HGNC:9267 +HGNC:9268 PPIAP15 peptidylprolyl isomerase A pseudogene 15 pseudogene pseudogene Approved 3q13.13 03q13.13 PPIP5 peptidylprolyl isomerase (cyclophilin) pseudogene 5 1992-07-09 2005-11-04 2016-01-14 2017-08-21 5487 ENSG00000244196 OTTHUMG00000159216 X52855 NG_005169 2197089 PGOHUM00000299124 HGNC:9268 +HGNC:9269 PPIAP16 peptidylprolyl isomerase A pseudogene 16 pseudogene pseudogene Approved 3p14.3 03p14.3 PPIP6 peptidylprolyl isomerase (cyclophilin) pseudogene 6 1992-07-09 2005-11-04 2016-01-14 2017-08-21 5488 ENSG00000213509 OTTHUMG00000158640 X52857 NG_005170 2197089 PGOHUM00000299446 HGNC:9269 +HGNC:16334 PPIAP17 peptidylprolyl isomerase A pseudogene 17 pseudogene pseudogene Approved 20p12.1 20p12.1 bA494B22.1 PPIP11 peptidylprolyl isomerase (cyclophilin) pseudogene 11 2001-09-17 2005-11-04 2016-01-14 2019-09-13 170540 ENSG00000225622 OTTHUMG00000031926 AL161941 NG_001049 PGOHUM00000296905 HGNC:16334 +HGNC:32454 PPIAP18 peptidylprolyl isomerase A pseudogene 18 pseudogene pseudogene Approved 3p21.32 03p21.32 2006-01-13 2016-01-14 2017-08-21 729673 NG_006115 PGOHUM00000299422 HGNC:32454 +HGNC:31663 PPIAP19 peptidylprolyl isomerase A pseudogene 19 pseudogene pseudogene Approved 10q25.3 10q25.3 bA108K1.2 2007-07-31 2016-01-14 2017-08-21 390006 ENSG00000228169 OTTHUMG00000019087 NG_009701 PGOHUM00000289996 HGNC:31663 +HGNC:38037 PPIAP20 peptidylprolyl isomerase A pseudogene 20 pseudogene pseudogene Approved 19p13.2 19p13.2 2010-03-23 2016-01-14 2017-08-21 100500737 ENSG00000235686 OTTHUMG00000156419 NG_027657 PGOHUM00000295210 HGNC:38037 +HGNC:16246 PPIAP21 peptidylprolyl isomerase A pseudogene 21 pseudogene pseudogene Approved 20q13.11 20q13.11 dJ269M15.1 PPIAL peptidylprolyl isomerase A (cyclophilin A)-like 2001-07-17 2010-10-25 2016-01-14 2017-08-21 170536 ENSG00000226038 OTTHUMG00000032496 AL021395 NG_001566 PGOHUM00000297124 HGNC:16246 +HGNC:17236 PPIAP22 peptidylprolyl isomerase A pseudogene 22 pseudogene pseudogene Approved 21q21.1 21q21.1 PPIA3L PPIAL3 peptidylprolyl isomerase A (cyclophilin A)-like 3 2003-10-01 2010-10-25 2016-01-14 2016-01-14 653214 ENSG00000198618 OTTHUMG00000074545 NG_005752 HGNC:17236 +HGNC:39268 PPIAP23 peptidylprolyl isomerase A pseudogene 23 pseudogene pseudogene Approved 13q31.3 13q31.3 2010-11-24 2016-01-14 2017-08-21 390419 ENSG00000214178 OTTHUMG00000017189 NG_011394 PGOHUM00000292025 HGNC:39268 +HGNC:39269 PPIAP24 peptidylprolyl isomerase A pseudogene 24 pseudogene pseudogene Approved 13q33.3 13q33.3 2010-11-24 2016-01-14 2017-08-21 122335 ENSG00000174408 OTTHUMG00000017325 NG_005155 PGOHUM00000292051 HGNC:39269 +HGNC:39270 PPIAP25 peptidylprolyl isomerase A pseudogene 25 pseudogene pseudogene Approved 13q14.13 13q14.13 2010-11-24 2016-01-14 2017-08-21 647085 ENSG00000229303 OTTHUMG00000016854 NG_011429 PGOHUM00000292144 HGNC:39270 +HGNC:39271 PPIAP26 peptidylprolyl isomerase A pseudogene 26 pseudogene pseudogene Approved 13q14.3 13q14.3 2010-11-24 2016-01-14 2017-08-21 121981 ENSG00000150276 OTTHUMG00000016978 NG_023035 PGOHUM00000292161 HGNC:39271 +HGNC:42646 PPIAP27 peptidylprolyl isomerase A pseudogene 27 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-08-10 2016-01-14 2017-08-21 100874405 ENSG00000234363 OTTHUMG00000016524 NG_032526 PGOHUM00000291883 HGNC:42646 +HGNC:39902 PPIAP28 peptidylprolyl isomerase A pseudogene 28 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-08-10 2016-01-14 2017-08-21 390378 ENSG00000226633 OTTHUMG00000016508 NG_011400 PGOHUM00000291877 HGNC:39902 +HGNC:43021 PPIAP29 peptidylprolyl isomerase A pseudogene 29 pseudogene pseudogene Approved 6p22.3 06p22.3 2011-10-04 2016-01-14 2017-08-21 134997 ENSG00000214975 OTTHUMG00000014377 NG_007346 PGOHUM00000301680 HGNC:43021 +HGNC:44878 PPIAP30 peptidylprolyl isomerase A pseudogene 30 pseudogene pseudogene Approved 10p13 10p13 2012-12-10 2016-01-14 2017-08-21 100192204 ENSG00000206448 OTTHUMG00000017730 NR_036506 PGOHUM00000289756 HGNC:44878 +HGNC:44962 PPIAP31 peptidylprolyl isomerase A pseudogene 31 pseudogene pseudogene Approved 10p11.22 10p11.22 2012-12-20 2016-01-14 2017-08-21 439953 ENSG00000217094 OTTHUMG00000017919 NG_030116 PGOHUM00000289786 HGNC:44962 +HGNC:49531 PPIAP32 peptidylprolyl isomerase A pseudogene 32 pseudogene pseudogene Approved 10q26.3 10q26.3 2014-01-08 2016-01-14 2017-08-21 101927399 ENSG00000233319 OTTHUMG00000019270 PGOHUM00000290017 HGNC:49531 +HGNC:49752 PPIAP33 peptidylprolyl isomerase A pseudogene 33 pseudogene pseudogene Approved 9p24.1 09p24.1 2014-02-13 2016-01-14 2017-08-21 392285 ENSG00000178654 OTTHUMG00000019538 PGOHUM00000304105 HGNC:49752 +HGNC:53658 PPIAP34 peptidylprolyl isomerase A pseudogene 34 pseudogene pseudogene Approved 1p36.12 01p36.12 2017-08-21 2017-08-21 101060363 ENSG00000234397 OTTHUMG00000002895 PGOHUM00000295587 HGNC:53658 +HGNC:53659 PPIAP35 peptidylprolyl isomerase A pseudogene 35 pseudogene pseudogene Approved 1p34.1 01p34.1 2017-08-21 2017-08-21 128192 ENSG00000232369 OTTHUMG00000008583 NG_015864 PGOHUM00000295652 HGNC:53659 +HGNC:53660 PPIAP36 peptidylprolyl isomerase A pseudogene 36 pseudogene pseudogene Approved 1p34.1 01p34.1 2017-08-21 2019-10-17 111082961 ENSG00000236872 OTTHUMG00000007679 NG_065974 PGOHUM00000296307 HGNC:53660 +HGNC:53661 PPIAP37 peptidylprolyl isomerase A pseudogene 37 pseudogene pseudogene Approved 1q23.3 01q23.3 2017-08-21 2019-10-17 111082976 ENSG00000226003 OTTHUMG00000028598 NG_065986 PGOHUM00000296612 HGNC:53661 +HGNC:53662 PPIAP38 peptidylprolyl isomerase A pseudogene 38 pseudogene pseudogene Approved 10q25.1 10q25.1 2017-08-21 2017-08-21 111082962 ENSG00000233477 OTTHUMG00000019014 NG_068473 PGOHUM00000289986 +HGNC:53663 PPIAP39 peptidylprolyl isomerase A pseudogene 39 pseudogene pseudogene Approved 10q25.3 10q25.3 2017-08-21 2019-10-17 111082963 ENSG00000230018 OTTHUMG00000019071 NG_065975 PGOHUM00000290286 HGNC:53663 +HGNC:53664 PPIAP40 peptidylprolyl isomerase A pseudogene 40 pseudogene pseudogene Approved 11p15.4 11p15.4 2017-08-21 2017-08-21 107984349 ENSG00000230593 OTTHUMG00000012286 XM_047428002 PGOHUM00000290347 HGNC:53664 +HGNC:53665 PPIAP41 peptidylprolyl isomerase A pseudogene 41 pseudogene pseudogene Approved 11p11.2 11p11.2 2017-08-21 2020-01-22 111082977 ENSG00000254463 OTTHUMG00000166400 NG_068476 PGOHUM00000290883 +HGNC:53666 PPIAP42 peptidylprolyl isomerase A pseudogene 42 pseudogene pseudogene Approved 11q12.1 11q12.1 2017-08-21 2017-08-21 100507231 ENSG00000213592 OTTHUMG00000167201 NG_030169 PGOHUM00000290518 HGNC:53666 +HGNC:53667 PPIAP43 peptidylprolyl isomerase A pseudogene 43 pseudogene pseudogene Approved 11q22.1 11q22.1 2017-08-21 2017-08-21 440063 ENSG00000255059 OTTHUMG00000167575 NG_030176 PGOHUM00000291115 HGNC:53667 +HGNC:53668 PPIAP44 peptidylprolyl isomerase A pseudogene 44 pseudogene pseudogene Approved 12p11.21 12p11.21 2017-08-21 2019-10-17 111082964 ENSG00000258118 OTTHUMG00000169310 NG_065976 PGOHUM00000291600 HGNC:53668 +HGNC:53669 PPIAP45 peptidylprolyl isomerase A pseudogene 45 pseudogene pseudogene Approved 12q13.11 12q13.11 2017-08-21 2017-08-21 100506099 ENSG00000258116 OTTHUMG00000169662 NG_030123 PGOHUM00000291323 HGNC:53669 +HGNC:53670 PPIAP46 peptidylprolyl isomerase A pseudogene 46 pseudogene pseudogene Approved 15q24.1 15q24.1 2017-08-21 2018-02-07 729739 ENSG00000260266 OTTHUMG00000172648 NR_045207 PGOHUM00000293293 HGNC:53670 +HGNC:53671 PPIAP47 peptidylprolyl isomerase A pseudogene 47 pseudogene pseudogene Approved 15q24.2 15q24.2 2017-08-21 2017-08-21 391532 ENSG00000260815 OTTHUMG00000172794 NG_030235 PGOHUM00000293299 HGNC:53671 +HGNC:53672 PPIAP48 peptidylprolyl isomerase A pseudogene 48 pseudogene pseudogene Approved 16q21 16q21 2017-08-21 2019-10-17 111082978 ENSG00000260187 OTTHUMG00000172808 NG_065987 PGOHUM00000293888 HGNC:53672 +HGNC:53673 PPIAP49 peptidylprolyl isomerase A pseudogene 49 pseudogene pseudogene Approved 16q23.1 16q23.1 2017-08-21 2019-10-17 111082973 ENSG00000260471 OTTHUMG00000177079 NG_065985 PGOHUM00000293902 HGNC:53673 +HGNC:53674 PPIAP50 peptidylprolyl isomerase A pseudogene 50 pseudogene pseudogene Approved 16q23.1 16q23.1 2017-08-21 2017-08-21 111082974 ENSG00000261330 OTTHUMG00000176847 NG_068474 PGOHUM00000293908 +HGNC:53675 PPIAP51 peptidylprolyl isomerase A pseudogene 51 pseudogene pseudogene Approved 16q23.2 16q23.2 2017-08-21 2017-08-21 729313 ENSG00000260229 OTTHUMG00000176522 NG_029839 PGOHUM00000293669 HGNC:53675 +HGNC:53676 PPIAP52 peptidylprolyl isomerase A pseudogene 52 pseudogene pseudogene Approved 17p13.1 17p13.1 2017-08-21 2019-10-17 111082965 ENSG00000270606 OTTHUMG00000184909 NG_065977 PGOHUM00000294268 HGNC:53676 +HGNC:53677 PPIAP53 peptidylprolyl isomerase A pseudogene 53 pseudogene pseudogene Approved 17p12 17p12 2017-08-21 2017-08-21 649873 ENSG00000223878 OTTHUMG00000059069 NG_030098 PGOHUM00000294274 HGNC:53677 +HGNC:53678 PPIAP54 peptidylprolyl isomerase A pseudogene 54 pseudogene pseudogene Approved 17q21.2 17q21.2 2017-08-21 2017-08-21 390791 ENSG00000264655 OTTHUMG00000179635 NG_029314 PGOHUM00000294431 HGNC:53678 +HGNC:53679 PPIAP55 peptidylprolyl isomerase A pseudogene 55 pseudogene pseudogene Approved 17q23.3 17q23.3 2017-08-21 2017-08-21 342541 ENSG00000228979 OTTHUMG00000185386 NG_027519 PGOHUM00000294514 HGNC:53679 +HGNC:53680 PPIAP56 peptidylprolyl isomerase A pseudogene 56 pseudogene pseudogene Approved 18p11.21 18p11.21 2017-08-21 2017-08-21 101927689 ENSG00000267663 OTTHUMG00000180721 PGOHUM00000294731 HGNC:53680 +HGNC:53681 PPIAP57 peptidylprolyl isomerase A pseudogene 57 pseudogene pseudogene Approved 18q11.2 18q11.2 2017-08-21 2017-08-21 111082979 ENSG00000266809 OTTHUMG00000179505 NG_065988 PGOHUM00000294630 HGNC:53681 +HGNC:53682 PPIAP58 peptidylprolyl isomerase A pseudogene 58 pseudogene pseudogene Approved 19q12 19q12 2017-08-21 2017-08-21 126170 ENSG00000267258 OTTHUMG00000182101 NG_047095 PGOHUM00000295326 HGNC:53682 +HGNC:53683 PPIAP59 peptidylprolyl isomerase A pseudogene 59 pseudogene pseudogene Approved 19q13.41 19q13.41 2017-08-21 2017-08-21 390956 ENSG00000228674 OTTHUMG00000182965 XM_047439804 PGOHUM00000295068 HGNC:53683 +HGNC:53684 PPIAP60 peptidylprolyl isomerase A pseudogene 60 pseudogene pseudogene Approved 2p25.1 02p25.1 2017-08-21 2017-08-21 107985791 ENSG00000226961 OTTHUMG00000151817 XM_047446546 PGOHUM00000298375 HGNC:53684 +HGNC:53685 PPIAP61 peptidylprolyl isomerase A pseudogene 61 pseudogene pseudogene Approved 2p24.1 02p24.1 2017-08-21 2020-04-20 112268435 NG_067238 PGOHUM00000298390 HGNC:53685 +HGNC:53686 PPIAP62 peptidylprolyl isomerase A pseudogene 62 pseudogene pseudogene Approved 2p16.3 02p16.3 2017-08-21 2017-08-21 101928610 ENSG00000226473 OTTHUMG00000151738 PGOHUM00000297858 HGNC:53686 +HGNC:53687 PPIAP63 peptidylprolyl isomerase A pseudogene 63 pseudogene pseudogene Approved 2p16.1 02p16.1 2017-08-21 2019-10-17 111082966 ENSG00000231570 OTTHUMG00000152045 NG_065978 PGOHUM00000298442 HGNC:53687 +HGNC:53688 PPIAP64 peptidylprolyl isomerase A pseudogene 64 pseudogene pseudogene Approved 2p14 02p14 2017-08-21 2017-08-21 100287361 ENSG00000236259 OTTHUMG00000152569 PGOHUM00000298462 HGNC:53688 +HGNC:53689 PPIAP65 peptidylprolyl isomerase A pseudogene 65 pseudogene pseudogene Approved 2q21.1 02q21.1 2017-08-21 2019-10-17 111082980 ENSG00000233428 OTTHUMG00000153429 NG_065989 PGOHUM00000298680 HGNC:53689 +HGNC:53690 PPIAP66 peptidylprolyl isomerase A pseudogene 66 pseudogene pseudogene Approved 2q31.1 02q31.1 2017-08-21 2017-08-21 643997 ENSG00000226131 OTTHUMG00000154128 NG_027502 PGOHUM00000298232 HGNC:53690 +HGNC:53691 PPIAP67 peptidylprolyl isomerase A pseudogene 67 pseudogene pseudogene Approved 2q31.1 02q31.1 2017-08-21 2019-10-17 111082981 ENSG00000237260 OTTHUMG00000154405 NG_065990 PGOHUM00000298798 HGNC:53691 +HGNC:53692 PPIAP68 peptidylprolyl isomerase A pseudogene 68 pseudogene pseudogene Approved 2q33.3 02q33.3 2017-08-21 2019-10-17 111082967 ENSG00000213739 OTTHUMG00000154643 NG_065979 PGOHUM00000298856 HGNC:53692 +HGNC:53693 PPIAP69 peptidylprolyl isomerase A pseudogene 69 pseudogene pseudogene Approved 3p21.2 03p21.2 2017-08-21 2019-10-17 111082982 ENSG00000228337 OTTHUMG00000156855 NG_028012 PGOHUM00000299032 HGNC:53693 +HGNC:53694 PPIAP70 peptidylprolyl isomerase A pseudogene 70 pseudogene pseudogene Approved 3p14.2 03p14.2 2017-08-21 2017-08-21 100506946 ENSG00000232407 OTTHUMG00000158654 NG_007551 PGOHUM00000299044 HGNC:53694 +HGNC:53695 PPIAP71 peptidylprolyl isomerase A pseudogene 71 pseudogene pseudogene Approved 3p14.2 03p14.2 2017-08-21 2017-08-21 107986014 ENSG00000244183 OTTHUMG00000158653 PGOHUM00000299046 HGNC:53695 +HGNC:53696 PPIAP72 peptidylprolyl isomerase A pseudogene 72 pseudogene pseudogene Approved 3q22.3 03q22.3 2017-08-21 2017-08-21 256374 ENSG00000174715 OTTHUMG00000159894 NG_029622 PGOHUM00000299194 HGNC:53696 +HGNC:53697 PPIAP73 peptidylprolyl isomerase A pseudogene 73 pseudogene pseudogene Approved 3q25.1 03q25.1 2017-08-21 2017-08-21 391587 ENSG00000182000 OTTHUMG00000159684 NG_030114 PGOHUM00000299625 HGNC:53697 +HGNC:53698 PPIAP74 peptidylprolyl isomerase A pseudogene 74 pseudogene pseudogene Approved 3q26.1 03q26.1 2017-08-21 2017-08-21 131055 ENSG00000220343 OTTHUMG00000158286 NG_012757 PGOHUM00000299656 HGNC:53698 +HGNC:53699 PPIAP75 peptidylprolyl isomerase A pseudogene 75 pseudogene pseudogene Approved 3q26.32 03q26.32 2017-08-21 2017-08-21 111082968 ENSG00000271131 OTTHUMG00000184353 NG_065980 PGOHUM00000299283 HGNC:53699 +HGNC:53700 PPIAP76 peptidylprolyl isomerase A pseudogene 76 pseudogene pseudogene Approved 4q28.1 04q28.1 2017-08-21 2017-08-21 111082983 ENSG00000250484 OTTHUMG00000161295 NG_065992 PGOHUM00000300363 HGNC:53700 +HGNC:53701 PPIAP77 peptidylprolyl isomerase A pseudogene 77 pseudogene pseudogene Approved 5p12 05p12 2017-08-21 2017-08-21 402213 ENSG00000249092 OTTHUMG00000162139 NG_030071 PGOHUM00000300569 HGNC:53701 +HGNC:53702 PPIAP78 peptidylprolyl isomerase A pseudogene 78 pseudogene pseudogene Approved 5q12.3 05q12.3 2017-08-21 2017-08-21 202227 ENSG00000234838 OTTHUMG00000162362 NG_030081 PGOHUM00000300977 HGNC:53702 +HGNC:53703 PPIAP79 peptidylprolyl isomerase A pseudogene 79 pseudogene pseudogene Approved 5q14.3 05q14.3 2017-08-21 2017-08-21 100289244 ENSG00000214853 OTTHUMG00000162588 NG_030072 PGOHUM00000300661 HGNC:53703 +HGNC:53704 PPIAP80 peptidylprolyl isomerase A pseudogene 80 pseudogene pseudogene Approved 7p15.1 07p15.1 2017-08-21 2017-08-21 402644 ENSG00000174495 OTTHUMG00000152781 NG_027537 PGOHUM00000302083 HGNC:53704 +HGNC:53705 PPIAP81 peptidylprolyl isomerase A pseudogene 81 pseudogene pseudogene Approved 7q11.23 07q11.23 2017-08-21 2017-08-21 107986732 ENSG00000213548 OTTHUMG00000155726 PGOHUM00000302820 HGNC:53705 +HGNC:53706 PPIAP82 peptidylprolyl isomerase A pseudogene 82 pseudogene pseudogene Approved 7q22.1 07q22.1 2017-08-21 2017-08-21 442713 ENSG00000213455 OTTHUMG00000154288 NG_009432 PGOHUM00000302358 HGNC:53706 +HGNC:53707 PPIAP83 peptidylprolyl isomerase A pseudogene 83 pseudogene pseudogene Approved 7q35 07q35 2017-08-21 2019-10-17 111082969 ENSG00000242978 OTTHUMG00000158052 NG_065981 PGOHUM00000302472 HGNC:53707 +HGNC:53708 PPIAP84 peptidylprolyl isomerase A pseudogene 84 pseudogene pseudogene Approved 8p12 08p12 2017-08-21 2017-08-21 111082984 ENSG00000254152 OTTHUMG00000163833 NG_065993 PGOHUM00000303146 HGNC:53708 +HGNC:53709 PPIAP85 peptidylprolyl isomerase A pseudogene 85 pseudogene pseudogene Approved 8q12.1 08q12.1 2017-08-21 2017-08-21 110596867 ENSG00000254103 OTTHUMG00000164302 NG_055429 PGOHUM00000303562 +HGNC:53710 PPIAP86 peptidylprolyl isomerase A pseudogene 86 pseudogene pseudogene Approved 8q13.1 08q13.1 2017-08-21 2017-08-21 111082970 ENSG00000213873 OTTHUMG00000164372 NG_065982 PGOHUM00000303575 HGNC:53710 +HGNC:53711 PPIAP87 peptidylprolyl isomerase A pseudogene 87 pseudogene pseudogene Approved 9q21.13 09q21.13 2017-08-21 2017-08-21 392352 ENSG00000219149 OTTHUMG00000020043 NG_030087 PGOHUM00000303941 HGNC:53711 +HGNC:53712 PPIAP88 peptidylprolyl isomerase A pseudogene 88 pseudogene pseudogene Approved 9q31.2 09q31.2 2017-08-21 2017-08-21 111082971 ENSG00000227350 OTTHUMG00000020451 NG_065983 PGOHUM00000304024 HGNC:53712 +HGNC:53713 PPIAP89 peptidylprolyl isomerase A pseudogene 89 pseudogene pseudogene Approved Xq22.1 Xq22.1 2017-08-21 2017-08-21 442460 ENSG00000223819 OTTHUMG00000022005 NG_030260 PGOHUM00000304774 HGNC:53713 +HGNC:53714 PPIAP90 peptidylprolyl isomerase A pseudogene 90 pseudogene pseudogene Approved Xq22.1 Xq22.1 2017-08-21 2017-08-21 111082985 ENSG00000234557 OTTHUMG00000022025 NG_017196 PGOHUM00000304780 HGNC:53714 +HGNC:53715 PPIAP91 peptidylprolyl isomerase A pseudogene 91 pseudogene pseudogene Approved Xq28 Xq28 2017-08-21 2017-08-21 111082972 ENSG00000228728 OTTHUMG00000024160 NG_065984 PGOHUM00000305390 HGNC:53715 +HGNC:54634 PPIAP93 PPIA pseudogene 93 pseudogene pseudogene Approved 7q31.33 07q31.33 2019-10-17 2019-10-17 116435287 ENSG00000227847 OTTHUMG00000157168 NG_068492 PGOHUM00000302918 +HGNC:9255 PPIB peptidylprolyl isomerase B protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "CYPB|OI9|PPIase|B|CYP-S1|SCYLP" "cyclophilin B|peptidyl-prolyl cis-trans isomerase B|rotamase B|S-cyclophilin" Cyclophilin peptidylprolyl isomerases 909 1991-11-25 2016-01-14 2021-04-13 5479 ENSG00000166794 OTTHUMG00000133018 uc002and.4 NM_000942 CCDS10191 P23284 "2000394|20089953" MGI:97750 RGD:620312 "Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=PPIB|LRG_10|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_10.xml" 123841 217124 5.2.1.8 HGNC:9255 "ENST00000300026.4|NM_000942.5" HGNC:9255 +HGNC:9256 PPIC peptidylprolyl isomerase C protein-coding gene gene with protein product Approved 5q23.2 05q23.2 CYPC cyclophilin C Cyclophilin peptidylprolyl isomerases 909 1993-06-18 2016-01-14 2016-01-14 5480 ENSG00000168938 OTTHUMG00000128921 uc003kth.4 S71018 NM_000943 CCDS4133 P45877 "1383094|8031755" MGI:97751 RGD:1303221 123842 5.2.1.8 HGNC:9256 "ENST00000306442.5|NM_000943.5" +HGNC:40464 PPIC-AS1 PPIC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Antisense RNAs 1987 2019-09-19 2019-09-19 107986447 ENSG00000249996 OTTHUMG00000162982 XR_001742868 HGNC:40464 +HGNC:9257 PPID peptidylprolyl isomerase D protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "CYP-40|CypD" cyclophilin 40 peptidylprolyl isomerase D (cyclophilin D) "Tetratricopeptide repeat domain containing|Cyclophilin peptidylprolyl isomerases" "769|909" 1995-08-23 2008-10-24 2021-08-19 5481 ENSG00000171497 OTTHUMG00000161927 uc003iqc.4 NM_005038 CCDS3801 Q08752 8509368 MGI:1914988 RGD:1303174 601753 objectId:3179 HGNC:9257 "ENST00000307720.4|NM_005038.3" +HGNC:9258 PPIE peptidylprolyl isomerase E protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "CyP-33|MGC3736|MGC111222" "peptidyl-prolyl cis-trans isomerase E|cyclophilin 33|cyclophilin E|PPIase E|rotamase E|peptidylprolyl isomerase E, isoform 1" "RNA binding motif containing|Cyclophilin peptidylprolyl isomerases|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "725|909|1507|1508|1510|1516" 1999-07-07 2016-01-14 2021-04-13 10450 ENSG00000084072 OTTHUMG00000009248 uc001cds.3 AF042385 NM_006112 "CCDS442|CCDS53299|CCDS443" Q9UNP9 9747881 MGI:1917118 RGD:1311411 LRG_1053|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1053.xml 602435 HGNC:9258 "ENST00000324379.10|NM_006112.4" +HGNC:33195 PPIEL peptidylprolyl isomerase E like pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 PPIEP1 peptidylprolyl isomerase E (cyclophilin E) pseudogene 1 "peptidylprolyl isomerase E-like|peptidylprolyl isomerase E-like (pseudogene)" 2010-04-08 2016-01-14 2016-10-05 728448 ENSG00000243970 OTTHUMG00000008393 CN265253 NR_003929.2 17471289 PGOHUM00000243975 HGNC:33195 +HGNC:9259 PPIF peptidylprolyl isomerase F protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "hCyP3|Cyp-D|CypD" cyclophilin D peptidylprolyl isomerase F (cyclophilin F) Cyclophilin peptidylprolyl isomerases 909 1999-06-02 2008-10-24 2021-08-19 10105 ENSG00000108179 OTTHUMG00000018562 uc001kai.4 M80254 NM_005729 CCDS7358 P30405 "1744118|23538482" MGI:2145814 RGD:628670 604486 5.2.1.8 HGNC:9259 "ENST00000225174.8|NM_005729.4" +HGNC:14650 PPIG peptidylprolyl isomerase G protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "CARS-Cyp|SRCyp|SCAF10" "SR-related CTD-associated factor 10|cyclophilin G" "Cyclophilin peptidylprolyl isomerases|Spliceosomal C complex|Spliceosomal P complex" "909|1510|1516" 2001-03-26 2016-01-14 2016-01-14 9360 ENSG00000138398 OTTHUMG00000132206 uc002uez.4 X99717 NM_004792 CCDS2235 Q13427 "8973360|9153302" MGI:2445173 RGD:620315 606093 6.1.1.16 HGNC:14650 "ENST00000260970.8|NM_004792.3" +HGNC:34231 PPIGP1 peptidylprolyl isomerase G pseudogene 1 pseudogene pseudogene Approved 5q33.2 05q33.2 2010-09-13 2016-01-14 2016-01-14 100131033 NG_028955 PGOHUM00000235819 HGNC:34231 +HGNC:14651 PPIH peptidylprolyl isomerase H protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "USA-CYP|CYP-20|SnuCyp-20|CYPH|MGC5016" "USA-CyP SnuCyp-20|cyclophilin H|U-snRNP-associated cyclophilin SunCyp-20|small nuclear ribonucleoprotein particle-specific cyclophilin H|rotamase H|peptidyl-prolyl cis-trans isomerase H|PPIase h" peptidyl prolyl isomerase H (cyclophilin H) "Cyclophilin peptidylprolyl isomerases|U4/U6 small nuclear ribonucleoprotein " "909|1502" 2001-03-16 2016-01-14 2016-10-05 10465 ENSG00000171960 OTTHUMG00000007520 uc001chq.4 AF016371 NM_006347 CCDS469 O43447 "9404889|9570313" MGI:106499 RGD:1564921 606095 HGNC:14651 "ENST00000304979.8|NM_006347.4" +HGNC:31355 PPIHP1 peptidylprolyl isomerase H pseudogene 1 pseudogene pseudogene Approved 11q23.1 11q23.1 peptidyl prolyl isomerase H (cyclophilin H) pseudogene 1 2004-03-11 2016-01-14 2017-10-30 246731 ENSG00000230911 OTTHUMG00000133754 AY425814 NG_001586 PGOHUM00000290706 HGNC:31355 +HGNC:31356 PPIHP2 peptidylprolyl isomerase H pseudogene 2 pseudogene pseudogene Approved Xq23 Xq23 peptidyl prolyl isomerase H (cyclophilin H) pseudogene 2 2004-03-11 2016-01-14 2020-04-07 404199 ENSG00000220541 OTTHUMG00000022219 AY425815 NG_004860 PGOHUM00000305257 HGNC:31356 +HGNC:9260 PPIL1 peptidylprolyl isomerase like 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 CYPL1 cyclophilin like 1 peptidylprolyl isomerase (cyclophilin)-like 1 "Cyclophilin peptidylprolyl isomerases|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "909|1507|1508|1510|1516" 1995-09-05 2015-11-23 2016-10-05 51645 ENSG00000137168 OTTHUMG00000014612 uc003omu.3 AF090992 NM_016059 CCDS4826 Q9Y3C6 "10072585|8978786" MGI:1916066 RGD:1309119 601301 HGNC:9260 "ENST00000373699.6|NM_016059.5" +HGNC:20865 PPIL1P1 peptidylprolyl isomerase like 1 pseudogene 1 pseudogene pseudogene Approved 2p23.3 02p23.3 peptidylprolyl isomerase (cyclophilin)-like 1 pseudogene 1 2003-04-16 2015-11-23 2015-11-23 150947 ENSG00000237951 OTTHUMG00000151937 NG_001555 PGOHUM00000240604 HGNC:20865 +HGNC:9261 PPIL2 peptidylprolyl isomerase like 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "UBOX7|CYC4|Cyp-60" "U-box domain containing 7|peptidyl-prolyl cis-trans isomerase-like 2" peptidylprolyl isomerase (cyclophilin)-like 2 "U-box domain containing|Cyclophilin peptidylprolyl isomerases|Spliceosomal Bact complex" "365|909|1508" 1999-10-29 2015-11-23 2016-10-05 23759 ENSG00000100023 OTTHUMG00000191763 uc002zvi.5 NM_001317996 "CCDS46670|CCDS13793" Q13356 10591208 MGI:2447857 RGD:1309484 607588 5.2.1.8 HGNC:9261 "ENST00000398831.8|NM_014337.4" +HGNC:9262 PPIL3 peptidylprolyl isomerase like 3 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 CyPJ Cyclophilin J peptidylprolyl isomerase (cyclophilin)-like 3 "Cyclophilin peptidylprolyl isomerases|Spliceosomal C complex|Spliceosomal P complex" "909|1510|1516" 2000-05-31 2015-11-23 2015-11-23 53938 ENSG00000240344 OTTHUMG00000132782 uc002uwh.4 AF251049 NM_032472 "CCDS2332|CCDS2333" Q9H2H8 11435694 MGI:1917475 RGD:631415 615811 HGNC:9262 "ENST00000392283.9|NM_130906.3" +HGNC:15702 PPIL4 peptidylprolyl isomerase like 4 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 peptidylprolyl isomerase (cyclophilin)-like 4 "RNA binding motif containing|Cyclophilin peptidylprolyl isomerases" "725|909" 2001-06-01 2015-11-23 2015-11-23 85313 ENSG00000131013 OTTHUMG00000015788 uc003qmo.3 NM_139126 CCDS34550 Q8WUA2 MGI:1914668 RGD:1311051 607609 HGNC:15702 "ENST00000253329.3|NM_139126.4" +HGNC:21557 PPIL6 peptidylprolyl isomerase like 6 protein-coding gene gene with protein product Approved 6q21 06q21 "bA425D10.6|MGC41939|dJ919F19.1|RSPH12" radial spoke 12 homolog (Chlamydomonas) peptidylprolyl isomerase (cyclophilin)-like 6 Cyclophilin peptidylprolyl isomerases 909 2003-06-24 2015-11-23 2016-04-25 285755 ENSG00000185250 OTTHUMG00000036593 uc003ptg.4 NM_001111298 "CCDS5074|CCDS47466|CCDS69169" Q8IXY8 MGI:1920325 RGD:1592581 HGNC:21557 "ENST00000521072.7|NM_173672.5" +HGNC:29023 PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "KIAA0377|IPS1|VIP1" HISPPD2A histidine acid phosphatase domain containing 2A 2005-11-04 2010-01-26 2010-01-26 2014-11-19 9677 ENSG00000168781 OTTHUMG00000059758 uc001zry.5 AF502586 NM_014659 "CCDS32215|CCDS53937|CCDS45252|CCDS86452" Q6PFW1 "17412958|17690096|18981179" MGI:2443281 RGD:1311552 610979 2.7.4.24 HGNC:29023 "ENST00000420765.6|NM_001394395.1" +HGNC:32373 PPIP5K1P1 diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 pseudogene pseudogene Approved 15q15.3 15q15.3 "HISPPD2BP|KIAA0377P" HISPPD2B histidine acid phosphatase domain containing 2B (pseudogene) 2005-11-04 2010-01-26 2010-01-26 2020-04-20 554224 NG_029358 12825070 HGNC:32373 +HGNC:29035 PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "KIAA0433|VIP2|CFAP160" "HISPPD1|DFNB100" "histidine acid phosphatase domain containing 1|deafness, autosomal recessive 100" Cilia and flagella associated 1491 2005-11-04 2010-01-26 2010-01-26 2018-07-30 23262 ENSG00000145725 OTTHUMG00000181461 uc063fui.1 AB007893 NM_015216 "CCDS64212|CCDS75283|CCDS34207" O43314 "9455477|17690096|18981179|29590114" MGI:2142810 RGD:1590765 611648 2.7.4.24 HGNC:29035 "ENST00000358359.8|NM_001276277.3" HGNC:29035 +HGNC:9273 PPL periplakin protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Plakins 939 1997-08-22 2014-11-19 5493 ENSG00000118898 OTTHUMG00000129528 uc002cyd.1 AF013717 NM_002705 CCDS10526 O60437 "9570964|9521878" MGI:1194898 RGD:1305511 602871 470898 HGNC:9273 "ENST00000345988.7|NM_002705.5" +HGNC:9275 PPM1A protein phosphatase, Mg2+/Mn2+ dependent 1A protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "MGC9201|PP2Calpha|PP2CA" "phosphatase 2C alpha|protein phosphatase 2C, alpha isoform" "protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform|protein phosphatase, Mg2+/Mn2+ dependent, 1A" Protein phosphatases, Mg2+/Mn2+ dependent 701 1993-02-05 2015-11-20 2015-11-20 5494 ENSG00000100614 OTTHUMG00000140333 uc001xey.5 S87759 NM_021003 "CCDS45120|CCDS9744|CCDS9745" P35813 1311954 MGI:99878 RGD:3373 606108 3.1.3.16 HGNC:9275 "ENST00000395076.9|NM_021003.5" +HGNC:30175 PPM1AP1 protein phosphatase, Mg2+/Mn2+ dependent 1A pseudogene 1 pseudogene pseudogene Approved 8p22 08p22 "protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform pseudogene 1|protein phosphatase, Mg2+/Mn2+ dependent 1A, pseudogene 1" 2009-10-12 2015-11-20 2015-11-20 137012 ENSG00000250483 OTTHUMG00000161571 NG_002692 PGOHUM00000249256 HGNC:30175 +HGNC:9276 PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B protein-coding gene gene with protein product Approved 2p21 02p21 "PPC2BETAX|PP2CB|PP2CBETA" protein phosphatase 2C, beta isoform "protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform|protein phosphatase, Mg2+/Mn2+ dependent, 1B" Protein phosphatases, Mg2+/Mn2+ dependent 701 1993-02-05 2015-11-20 2016-10-05 5495 ENSG00000138032 OTTHUMG00000128757 uc002rtt.4 AJ005801 NM_002706 "CCDS1817|CCDS1816|CCDS46271|CCDS1818" O75688 9684878 MGI:101841 RGD:3374 603770 244720 3.1.3.16 HGNC:9276 "ENST00000282412.9|NM_002706.6" +HGNC:55161 PPM1B-DT PPM1B divergent transcript non-coding RNA RNA, long non-coding Approved 2p21 02p21 Divergent transcripts 1990 2020-07-17 2020-07-17 118568818 ENSG00000273106 +HGNC:9277 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "Wip1|PP2C-DELTA" "wild-type p53-induced phosphatase 1|protein phosphatase 2C, delta isoform" "protein phosphatase 1D magnesium-dependent, delta isoform|protein phosphatase, Mg2+/Mn2+ dependent, 1D" Protein phosphatases, Mg2+/Mn2+ dependent 701 1998-10-14 2015-11-20 2021-04-13 8493 ENSG00000170836 OTTHUMG00000180052 uc002iyt.3 U78305 NM_003620 CCDS11625 O15297 9177166 MGI:1858214 RGD:1305460 LRG_770|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_770.xml PPM1D 605100 437674 objectId:3134 HGNC:9277 "ENST00000305921.8|NM_003620.4" HGNC:9277 +HGNC:19322 PPM1E protein phosphatase, Mg2+/Mn2+ dependent 1E protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "POPX1|KIAA1072|PP2CH|CaMKP-N" "partner of PIX 1|nuclear calmodulin-dependent protein kinase phosphatase" "protein phosphatase 1E (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1E" Protein phosphatases, Mg2+/Mn2+ dependent 701 2002-11-28 2015-11-20 2015-11-20 22843 ENSG00000175175 OTTHUMG00000179248 uc002iwx.5 AB028995 NM_014906 CCDS11613 Q8WY54 "11864573|10470851" MGI:2444096 RGD:735028 619308 HGNC:19322 "ENST00000308249.4|NM_014906.5" +HGNC:19388 PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "FEM-2|KIAA0015|POPX2|CaMKPase|CAMKP" "partner of PIX 2|Ca(2+)/calmodulin-dependent protein kinase phosphatase" "protein phosphatase 1F (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1F" Protein phosphatases, Mg2+/Mn2+ dependent 701 2002-11-28 2015-11-20 2015-11-20 9647 ENSG00000100034 OTTHUMG00000150835 uc002zvp.3 D13640 NM_014634 CCDS13796 P49593 "11864573|11559703" MGI:1918464 RGD:631363 619309 3.1.3.16 HGNC:19388 "ENST00000263212.10|NM_014634.4" +HGNC:40888 PPM1F-AS1 PPM1F antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.22 22q11.22 Antisense RNAs 1987 2019-10-03 2019-10-03 100286925 ENSG00000224086 OTTHUMG00000153510 NR_147620 HGNC:40888 +HGNC:9278 PPM1G protein phosphatase, Mg2+/Mn2+ dependent 1G protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "PP2CG|PP2Cgamma" "PP2C, gamma|protein phosphatase 2C, gamma isoform" "protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform|protein phosphatase, Mg2+/Mn2+ dependent, 1G" Protein phosphatases, Mg2+/Mn2+ dependent 701 1997-11-11 2015-11-20 2015-11-20 5496 ENSG00000115241 OTTHUMG00000097788 uc002rkl.5 Y13936 NM_002707 CCDS1752 O15355 9276438 MGI:106065 RGD:628676 605119 470900 3.1.3.16 HGNC:9278 "ENST00000344034.5|NM_177983.3" +HGNC:18583 PPM1H protein phosphatase, Mg2+/Mn2+ dependent 1H protein-coding gene gene with protein product Approved 12q14.1-q14.2 12q14.1-q14.2 "KIAA1157|FLJ13253|NERPP-2C" neurite extension-related protein phosphatase related to PP2C ARHCL1 "ras homolog gene family, member C like 1|protein phosphatase 1H (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1H" Protein phosphatases, Mg2+/Mn2+ dependent 701 2002-04-29 2004-03-26 2015-11-20 2018-02-13 57460 ENSG00000111110 OTTHUMG00000169990 uc001srk.5 AB032983 NM_020700 CCDS44934 Q9ULR3 MGI:2442087 RGD:1309528 616016 3.1.3.16 HGNC:18583 "ENST00000228705.7|NM_020700.2" +HGNC:20785 PPM1J protein phosphatase, Mg2+/Mn2+ dependent 1J protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ35951|MGC19531|DKFZp434P1514|PP2Czeta|PPP2CZ" protein phosphatase 2C zeta "protein phosphatase 1J (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1J" Protein phosphatases, Mg2+/Mn2+ dependent 701 2005-03-07 2015-11-20 2016-10-05 333926 ENSG00000155367 OTTHUMG00000012019 uc001ect.2 AK093270 NM_005167 CCDS855 Q5JR12 12633878 MGI:1919137 RGD:1359104 609957 3.1.3.16 HGNC:20785 "ENST00000309276.11|NM_005167.7" +HGNC:55355 PPM1J-DT PPM1J divergent transcript non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 Divergent transcripts 1990 2020-11-05 2020-11-05 105378910 ENSG00000261595 XR_947713 +HGNC:25415 PPM1K protein phosphatase, Mg2+/Mn2+ dependent 1K protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "DKFZp761G058|PP2Ckappa|hPTMP|PP2Cm|BDP" "PP2C-type mitochondrial phosphoprotein phosphatase|protein phosphatase 2C kappa|branched-chain α-ketoacid dehydrogenase phosphatase" "protein phosphatase 1K (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1K" Protein phosphatases, Mg2+/Mn2+ dependent 701 2005-01-11 2015-11-20 2018-04-18 152926 ENSG00000163644 OTTHUMG00000130952 uc003hrm.6 BC037552 NM_152542 CCDS3629 Q8N3J5 22291014 MGI:2442111 RGD:1308501 611065 326069 3.1.3.16 HGNC:25415 "ENST00000608933.6|NM_152542.5" HGNC:25415 +HGNC:54093 PPM1K-DT PPM1K divergent transcript non-coding RNA RNA, long non-coding Approved 4q22.1 04q22.1 Divergent transcripts 1990 2018-11-04 2018-11-04 105369192 ENSG00000246375 NR_134236 HGNC:54093 +HGNC:16381 PPM1L protein phosphatase, Mg2+/Mn2+ dependent 1L protein-coding gene gene with protein product Approved 3q25.33-q26.1 03q25.33-q26.1 PP2CE "PP2Cepsilon|Protein phosphatase 2C epsilon isoform" "protein phosphatase 1 (formerly 2C)-like|protein phosphatase, Mg2+/Mn2+ dependent, 1L" Protein phosphatases, Mg2+/Mn2+ dependent 701 2003-10-15 2015-11-20 2018-02-13 151742 ENSG00000163590 OTTHUMG00000159048 uc003fdu.4 AK055115 NM_139245 "CCDS33886|CCDS82869|CCDS82868" Q5SGD2 12556533 MGI:2139740 RGD:1305220 611931 3.1.3.16 HGNC:16381 "ENST00000498165.6|NM_139245.4" +HGNC:55390 PPM1L-DT PPM1L divergent transcript non-coding RNA RNA, long non-coding Approved 3q25.33 03q25.33 Divergent transcripts 1990 2020-12-17 2020-12-17 119863869 ENSG00000260572 +HGNC:26506 PPM1M protein phosphatase, Mg2+/Mn2+ dependent 1M protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "PP2Ceta|FLJ32332" protein phosphatase 2C eta "protein phosphatase 1M (PP2C domain containing)|protein phosphatase, Mg2+/Mn2+ dependent, 1M" Protein phosphatases, Mg2+/Mn2+ dependent 701 2005-04-25 2015-11-20 2016-10-05 132160 ENSG00000164088 OTTHUMG00000153046 uc011bed.3 AK096681 NM_144641 CCDS46840 Q96MI6 12477932 MGI:1915155 RGD:1584266 608979 HGNC:26506 "ENST00000323588.9|NM_144641.4" +HGNC:26845 PPM1N protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ40125 protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) Protein phosphatases, Mg2+/Mn2+ dependent 701 2010-03-05 2015-11-20 2015-11-20 147699 ENSG00000213889 OTTHUMG00000140397 uc002pce.4 AK097444 NM_001080401 CCDS46115 Q8N819 MGI:2142330 RGD:1562091 HGNC:26845 "ENST00000451287.7|NM_001080401.2" +HGNC:30178 PPME1 protein phosphatase methylesterase 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "PME-1|ABDH19" "Abhydrolase domain containing|Protein phosphatase 2 modulatory subunits" "4|1265" 2005-11-18 2019-01-28 51400 ENSG00000214517 OTTHUMG00000168115 uc001ouw.5 NM_016147 "CCDS44678|CCDS60891" Q9Y570 10318862 MGI:1919840 RGD:1309683 611117 S33.984 objectId:2875 3.1.1.89 HGNC:30178 "ENST00000328257.13|NM_016147.3" +HGNC:9280 PPOX protoporphyrinogen oxidase protein-coding gene gene with protein product Approved 1q23.3 01q23.3 PPO VP variegate porphyria 1988-08-31 2021-04-13 5498 ENSG00000143224 OTTHUMG00000034342 uc001fyg.3 BC002357 NM_000309 CCDS1221 P50336 "8575762|10457135" MGI:104968 RGD:1310543 LRG_1078|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1078.xml 600923 117969 1.3.3.4 HGNC:9280 "ENST00000367999.9|NM_001122764.3" HGNC:9280 +HGNC:9281 PPP1CA protein phosphatase 1 catalytic subunit alpha protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "PP1A|PP-1A|PP1alpha" PPP1A "protein phosphatase 1, catalytic subunit, alpha isoform|protein phosphatase 1, catalytic subunit, alpha isozyme" Protein phosphatase catalytic subunits 693 1989-10-11 2016-02-10 2020-04-01 5499 ENSG00000172531 OTTHUMG00000167671 uc001okw.2 NM_002708 "CCDS8160|CCDS31618|CCDS8161" P62136 MGI:103016 RGD:3375 176875 3.1.3.16 HGNC:9281 "ENST00000376745.9|NM_002708.4" +HGNC:9282 PPP1CB protein phosphatase 1 catalytic subunit beta protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "PP1B|PP-1B|PP1beta|PP1c|MP|PPP1beta" myosin phosphatase "protein phosphatase 1, catalytic subunit, beta isoform|protein phosphatase 1, catalytic subunit, beta isozyme" Protein phosphatase catalytic subunits 693 1993-01-22 2016-02-10 2019-10-01 5500 ENSG00000213639 OTTHUMG00000152011 uc002rmg.4 NM_002709 CCDS33169 P62140 8312365 MGI:104871 RGD:3376 600590 470902 3.1.3.16 HGNC:9282 "ENST00000395366.3|NM_002709.3" HGNC:9282 +HGNC:55829 PPP1CB-DT PPP1CB divergent transcript non-coding RNA RNA, long non-coding Approved 2p23.2 02p23.2 Divergent transcripts 1990 2021-08-02 2021-08-02 112267877 ENSG00000226833 XR_001739359 +HGNC:9283 PPP1CC protein phosphatase 1 catalytic subunit gamma protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "PP1C|PP1gamma" "protein phosphatase 1, catalytic subunit, gamma isoform|protein phosphatase 1, catalytic subunit, gamma isozyme" Protein phosphatase catalytic subunits 693 1992-12-01 2016-02-10 2016-10-05 5501 ENSG00000186298 OTTHUMG00000169531 uc001tru.4 NM_001244974 "CCDS9150|CCDS58279" P36873 MGI:104872 RGD:3377 176914 3.1.3.16 HGNC:9283 "ENST00000335007.10|NM_002710.4" +HGNC:9286 PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A protein-coding gene gene with protein product Approved 12q13.2 12q13.2 protein phosphatase 1, regulatory (inhibitor) subunit 1A Protein phosphatase 1 regulatory subunits 694 1993-01-22 2015-11-18 2015-11-18 5502 ENSG00000135447 OTTHUMG00000169934 uc001sgg.3 U48707 NM_006741 CCDS44912 Q13522 8611507 MGI:1889595 RGD:62018 613246 3.1.3.16 HGNC:9286 "ENST00000257905.13|NM_006741.4" +HGNC:16316 PPP1R1AP1 protein phosphatase 1 regulatory inhibitor subunit 1A pseudogene 1 pseudogene pseudogene Approved 11q13.5 11q13.5 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 1 2001-08-08 2015-11-18 2015-11-18 94304 ENSG00000255255 OTTHUMG00000165320 NG_030171 11948623 PGOHUM00000242373 HGNC:16316 +HGNC:16317 PPP1R1AP2 protein phosphatase 1 regulatory inhibitor subunit 1A pseudogene 2 pseudogene pseudogene Approved 16p11.1 16p11.1 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 2 2001-08-08 2015-11-18 2020-04-20 100129627 ENSG00000261084 OTTHUMG00000176027 NG_022518 11948623 PGOHUM00000293844 HGNC:16317 +HGNC:9287 PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B protein-coding gene gene with protein product Approved 17q12 17q12 "DARPP-32|FLJ20940" dopamine and cAMP regulated phosphoprotein protein phosphatase 1, regulatory (inhibitor) subunit 1B Protein phosphatase 1 regulatory subunits 694 1993-01-22 2015-11-18 2015-11-18 84152 ENSG00000131771 OTTHUMG00000133210 uc002hrz.4 AI124650 NM_032192 "CCDS11340|CCDS11339" Q9UD71 8120638 MGI:94860 RGD:621859 604399 3.1.3.16 HGNC:9287 "ENST00000254079.9|NM_032192.4" +HGNC:14940 PPP1R1C protein phosphatase 1 regulatory inhibitor subunit 1C protein-coding gene gene with protein product Approved 2q31.3-q32.1 02q31.3-q32.1 Inhibitor-1-like protein phosphatase 1, regulatory (inhibitor) subunit 1C Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2018-02-13 151242 ENSG00000150722 OTTHUMG00000154326 uc002uop.3 "AF494535|BC017943" NM_001080545 "CCDS58740|CCDS46468" Q8WVI7 11948623 MGI:1923185 RGD:1562095 613240 HGNC:14940 "ENST00000682840.1|NM_001080545.3" +HGNC:9288 PPP1R2 protein phosphatase 1 regulatory inhibitor subunit 2 protein-coding gene gene with protein product Approved 3q29 03q29 "IPP2|PPP1R2A" protein phosphatase 1, regulatory (inhibitor) subunit 2 Protein phosphatase 1 regulatory subunits 694 1993-01-22 2015-11-18 2018-01-22 5504 ENSG00000184203 OTTHUMG00000155887 uc032sob.2 U68111 NM_006241 CCDS3309 P41236 "9126490|8119416" MGI:1914099 RGD:621099 601792 3.1.3.16 HGNC:9288 "ENST00000618156.5|NM_006241.8" +HGNC:16318 PPP1R2B PPP1R2 family member B protein-coding gene gene with protein product Approved 5q33.3 05q33.3 MGC87149 PPP1R2P3 "protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3|protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 3" 2001-08-29 2018-01-22 2018-01-22 2019-09-09 153743 ENSG00000231989 OTTHUMG00000163467 BC066922 NM_206858 CCDS87340 Q6NXS1 "11948623|23506001" MGI:1914099 HGNC:16318 "ENST00000522232.3|NM_206858.3" +HGNC:16324 PPP1R2C PPP1R2C family member C protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 I-4 PPP1R2P9 "protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9|protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 9" 2001-08-08 2018-01-22 2018-01-22 2019-09-09 80316 ENSG00000102055 OTTHUMG00000021382 AB044137 NM_025210 CCDS87739 O14990 "11948623|24195737" 301017 PGOHUM00000241251 HGNC:16324 "ENST00000378131.4|NM_025210.2" +HGNC:9289 PPP1R2P1 protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 IPP-2P PPP1R2P protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1 1994-12-15 2001-08-31 2015-11-18 2015-11-18 100507444 ENSG00000234515 OTTHUMG00000031273 AF275684 NG_027882 Q96PQ5 "11696978|7949733" MGI:1914099 PGOHUM00000264325 HGNC:9289 +HGNC:9290 PPP1R2P2 protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 2 pseudogene pseudogene Approved 21q22.12 21q22.12 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 2000-05-23 2015-11-18 2016-10-05 54036 ENSG00000234008 OTTHUMG00000086466 NR_144547 10830953 PGOHUM00000239168 HGNC:9290 +HGNC:16319 PPP1R2P4 protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 4 pseudogene pseudogene Approved 13q14.13 13q14.13 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 4 2001-08-08 2015-11-18 2015-11-18 728970 ENSG00000241353 OTTHUMG00000016876 NG_011458 11948623 HGNC:16319 +HGNC:16320 PPP1R2P5 protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 5 pseudogene pseudogene Approved 2q12.3 02q12.3 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 5 2001-08-08 2015-11-18 2020-04-20 649489 ENSG00000229360 OTTHUMG00000153206 NG_021516 11948623 PGOHUM00000240239 HGNC:16320 +HGNC:16321 PPP1R2P6 protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 6 pseudogene pseudogene Approved 7q34 07q34 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 6 2001-08-08 2015-11-18 2020-04-20 100130972 ENSG00000241661 OTTHUMG00000157342 NG_022575 11948623 PGOHUM00000233596 HGNC:16321 +HGNC:16323 PPP1R2P8 protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 8 pseudogene pseudogene Approved 5p14.3 05p14.3 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 8 2001-08-08 2015-11-18 2015-11-18 94310 NG_031921 11948623 HGNC:16323 +HGNC:42008 PPP1R2P10 protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 10 pseudogene pseudogene Approved 13q21.31 13q21.31 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 10 2011-05-31 2015-11-18 2015-11-18 100128626 ENSG00000213232 OTTHUMG00000017024 NG_029109 PGOHUM00000248417 HGNC:42008 +HGNC:9291 PPP1R3A protein phosphatase 1 regulatory subunit 3A protein-coding gene gene with protein product Approved 7q31.1 07q31.1 GM "glycogen-associated regulatory subunit of protein phosphatase-1|protein phosphatase 1 regulatory subunit GM" PPP1R3 "protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)|protein phosphatase 1, regulatory (inhibitor) subunit 3A|protein phosphatase 1, regulatory subunit 3A" Protein phosphatase 1 regulatory subunits 694 1993-01-22 2001-07-02 2015-11-18 2015-11-18 5506 ENSG00000154415 OTTHUMG00000156944 uc010ljy.2 AF024578 NM_002711 CCDS5759 Q16821 7926294 MGI:2153588 RGD:1561312 600917 3.1.3.16 HGNC:9291 "ENST00000284601.4|NM_002711.4" HGNC:9291 +HGNC:14942 PPP1R3B protein phosphatase 1 regulatory subunit 3B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "GL|FLJ14005|PPP1R4" "PP1 subunit R4|hepatic glycogen-targeting subunit, G(L)" "protein phosphatase 1, regulatory (inhibitor) subunit 3B|protein phosphatase 1, regulatory subunit 3B" Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2015-11-18 79660 ENSG00000173281 OTTHUMG00000129329 uc003wsn.5 AK024067 NM_024607 CCDS5973 Q86XI6 "11948623|17555403" MGI:2177268 RGD:621600 610541 HGNC:14942 "ENST00000310455.4|NM_024607.4" +HGNC:56150 PPP1R3B-DT PPP1R3B divergent transcript non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Divergent transcripts 1990 2022-01-12 2022-01-12 102724880 ENSG00000248538 XR_001745799 +HGNC:9293 PPP1R3C protein phosphatase 1 regulatory subunit 3C protein-coding gene gene with protein product Approved 10q23.32 10q23.32 PTG "Phosphatase 1, regulatory inhibitor subunit 5|protein targeting to glycogen" PPP1R5 "protein phosphatase 1, regulatory (inhibitor) subunit 3C|protein phosphatase 1, regulatory subunit 3C" Protein phosphatase 1 regulatory subunits 694 1997-06-24 2001-08-01 2015-11-18 2016-10-05 5507 ENSG00000119938 OTTHUMG00000018745 uc001kho.4 Y18207 NM_005398 CCDS7416 Q9UQK1 8985175 MGI:1858229 RGD:1309132 602999 HGNC:9293 "ENST00000238994.6|NM_005398.7" +HGNC:9294 PPP1R3D protein phosphatase 1 regulatory subunit 3D protein-coding gene gene with protein product Approved 20q13.33 20q13.33 PPP1R6 "protein phosphatase 1, regulatory (inhibitor) subunit 3D|protein phosphatase 1, regulatory subunit 3D" Protein phosphatase 1 regulatory subunits 694 1998-08-13 2001-08-01 2015-11-18 2016-10-05 5509 ENSG00000132825 OTTHUMG00000032876 uc002ybb.4 Y18206 NM_006242 CCDS13483 O95685 "9414128|9275233" MGI:1917664 RGD:1586306 603326 HGNC:9294 "ENST00000370996.5|NM_006242.4" +HGNC:14943 PPP1R3E protein phosphatase 1 regulatory subunit 3E protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ00089 "protein phosphatase 1, regulatory (inhibitor) subunit 3E|protein phosphatase 1, regulatory subunit 3E" Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2015-11-18 90673 ENSG00000235194 OTTHUMG00000172116 uc031qns.2 AK024489 NM_001276318 CCDS61403 Q9H7J1 "11948623|15752363" MGI:2145790 RGD:1583926 619540 HGNC:14943 "ENST00000452015.9|NM_001276318.2" +HGNC:14944 PPP1R3F protein phosphatase 1 regulatory subunit 3F protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 Hb2E "protein phosphatase 1, regulatory (inhibitor) subunit 3F|protein phosphatase 1, regulatory subunit 3F" Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2020-04-02 89801 ENSG00000049769 OTTHUMG00000024139 uc004dnh.3 NM_033215 "CCDS35254|CCDS55415" Q6ZSY5 11948623 MGI:1859617 RGD:1566398 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PPP1R3F HGNC:14944 "ENST00000055335.11|NM_033215.5" +HGNC:14945 PPP1R3G protein phosphatase 1 regulatory subunit 3G protein-coding gene gene with protein product Approved 6p25.1 06p25.1 "protein phosphatase 1, regulatory (inhibitor) subunit 3G|protein phosphatase 1, regulatory subunit 3G" Protein phosphatase 1 regulatory subunits 694 2001-07-03 2015-11-18 2015-11-18 648791 ENSG00000219607 OTTHUMG00000014172 uc011dia.2 NM_001145115 CCDS47366 B7ZBB8 11948623 MGI:1923737 RGD:1308930 619541 HGNC:14945 "ENST00000405617.4|NM_001145115.3" +HGNC:9295 PPP1R7 protein phosphatase 1 regulatory subunit 7 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 sds22 "protein phosphatase 1, regulatory (inhibitor) subunit 7|protein phosphatase 1, regulatory subunit 7" Protein phosphatase 1 regulatory subunits 694 1998-01-21 2015-11-18 2015-11-18 5510 ENSG00000115685 OTTHUMG00000133390 uc002wat.3 AF067136 NM_002712 "CCDS63193|CCDS63192|CCDS2546|CCDS63190|CCDS63194" Q15435 "7498485|7670491|10231361" MGI:1913635 RGD:1308169 602877 HGNC:9295 "ENST00000234038.11|NM_002712.3" +HGNC:9296 PPP1R8 protein phosphatase 1 regulatory subunit 8 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "ard-1|NIPP-1|PRO2047|ARD1|NIPP1" "RNase E|nuclear subunit of PP-1|nuclear inhibitor of protein phosphatase-1|activator of RNA decay|protein phosphatase 1 regulatory subunit 8" "protein phosphatase 1, regulatory (inhibitor) subunit 8|protein phosphatase 1, regulatory subunit 8" "Protein phosphatase 1 regulatory subunits|Endoribonucleases|Small nucleolar RNA protein coding host genes" "694|1687|1835" 1998-04-29 2015-11-18 2015-11-18 5511 ENSG00000117751 OTTHUMG00000003734 uc001bov.3 AF061959 NM_014110 "CCDS313|CCDS311|CCDS312" Q12972 "7524097|8473324" MGI:2140494 RGD:1306280 602636 HGNC:9296 "ENST00000311772.10|NM_014110.5" +HGNC:9297 PPP1R8P1 protein phosphatase 1 regulatory subunit 8 pseudogene 1 pseudogene pseudogene Approved 1p33 01p33 PPP1R8P "protein phosphatase 1, regulatory (inhibitor) subunit 8 pseudogene|protein phosphatase 1, regulatory (inhibitor) subunit 8 pseudogene 1|protein phosphatase 1, regulatory subunit 8 pseudogene 1" 1998-04-29 2011-08-19 2015-11-18 2015-11-18 5512 ENSG00000224986 OTTHUMG00000007792 AF064758 NG_001178 10103062 PGOHUM00000244016 HGNC:9297 +HGNC:14946 PPP1R9A protein phosphatase 1 regulatory subunit 9A protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "Neurabin-I|KIAA1222|FLJ20068" "protein phosphatase 1, regulatory (inhibitor) subunit 9A|protein phosphatase 1, regulatory subunit 9A" "Protein phosphatase 1 regulatory subunits|Sterile alpha motif domain containing|PDZ domain containing" "694|760|1220" 2001-06-29 2015-11-18 2015-11-18 55607 ENSG00000158528 OTTHUMG00000155566 uc003unp.5 AB033048 NM_001166160 "CCDS55127|CCDS34683|CCDS55129|CCDS55128" Q9ULJ8 10574462 MGI:2442401 RGD:632280 602468 HGNC:14946 "ENST00000433360.6|NM_001166160.2" +HGNC:40696 PPP1R9A-AS1 PPP1R9A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 Antisense RNAs 1987 2019-10-03 2019-10-03 105375405 ENSG00000236197 OTTHUMG00000155562 XR_007060434 HGNC:40696 +HGNC:9298 PPP1R9B protein phosphatase 1 regulatory subunit 9B protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "Spn|SPINO" "spinophilin|Neurabin-2" "PPP1R6|PPP1R9" "protein phosphatase 1, regulatory subunit 9B, spinophilin|protein phosphatase 1, regulatory (inhibitor) subunit 9B|protein phosphatase 1, regulatory subunit 9B" "Protein phosphatase 1 regulatory subunits|PDZ domain containing" "694|1220" 1997-10-10 2001-07-02 2015-11-18 2015-11-18 84687 ENSG00000108819 OTTHUMG00000162008 uc032fmj.2 AJ401189 NM_032595 CCDS74102 Q96SB3 9275233 MGI:2387581 RGD:632281 603325 HGNC:9298 "ENST00000612501.2|NM_032595.5" +HGNC:9284 PPP1R10 protein phosphatase 1 regulatory subunit 10 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "PNUTS|FB19|CAT53|p99" "phosphatase 1 nuclear targeting subunit|HLA-C associated transcript 53" "protein phosphatase 1, regulatory (inhibitor) subunit 10|protein phosphatase 1, regulatory subunit 10" Protein phosphatase 1 regulatory subunits 694 1998-08-13 2015-11-18 2016-10-05 5514 ENSG00000204569 OTTHUMG00000031259 uc003nqn.3 Y13247 NM_002714 CCDS4681 Q96QC0 "9461602|9784381" MGI:1289273 RGD:620079 603771 HGNC:9284 "ENST00000376511.7|NM_002714.4" +HGNC:16325 PPP1R10P1 protein phosphatase 1 regulatory subunit 10 pseudogene 1 pseudogene pseudogene Approved 11q24.3 11q24.3 PPP1R10P "protein phosphatase 1, regulatory (inhibitor) subunit 10 pseudogene|protein phosphatase 1, regulatory (inhibitor) subunit 10 pseudogene 1|protein phosphatase 1, regulatory subunit 10 pseudogene 1" 2001-08-08 2011-08-19 2015-11-18 2020-04-20 100422381 ENSG00000255352 OTTHUMG00000165660 NG_024439 11948623 PGOHUM00000242542 HGNC:16325 +HGNC:9285 PPP1R11 protein phosphatase 1 regulatory inhibitor subunit 11 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "HCGV|Tctex5|HCG-V|CFAP255" TCTE5 protein phosphatase 1, regulatory (inhibitor) subunit 11 "Protein phosphatase 1 regulatory subunits|Cilia and flagella associated" "694|1491" 2000-02-11 2015-11-18 2016-10-05 6992 ENSG00000204619 OTTHUMG00000031260 uc003npb.4 X81003 NM_021959 CCDS4671 O60927 "9843442|8781118" MGI:1923747 RGD:1303163 606670 HGNC:9285 "ENST00000376772.8|NM_021959.3" +HGNC:16326 PPP1R11P1 protein phosphatase 1 regulatory inhibitor subunit 11 pseudogene 1 pseudogene pseudogene Approved 1p36.12 01p36.12 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 1 2001-08-08 2015-11-18 2015-11-18 94297 ENSG00000236216 OTTHUMG00000002940 NG_030207 11948623 PGOHUM00000244630 HGNC:16326 +HGNC:16327 PPP1R11P2 protein phosphatase 1 regulatory inhibitor subunit 11 pseudogene 2 pseudogene pseudogene Approved Xp11.21 Xp11.21 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 2 2001-08-08 2015-11-18 2015-11-18 94298 ENSG00000231765 OTTHUMG00000021682 NG_009575 11948623 PGOHUM00000241800 HGNC:16327 +HGNC:7618 PPP1R12A protein phosphatase 1 regulatory subunit 12A protein-coding gene gene with protein product Approved 12q21.2-q21.31 12q21.2-q21.31 "MBS|M130" "myosin phosphatase-targeting subunit 1|myosin binding subunit" MYPT1 "protein phosphatase 1, regulatory (inhibitor) subunit 12A|protein phosphatase 1, regulatory subunit 12A" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 1997-12-23 2001-08-10 2015-11-18 2018-02-13 4659 ENSG00000058272 OTTHUMG00000170100 uc010sud.2 D87930 NM_002480 "CCDS44948|CCDS44947|CCDS58259|CCDS58260" O14974 9286714 MGI:1309528 RGD:620013 602021 HGNC:7618 "ENST00000450142.7|NM_002480.3" HGNC:7618 +HGNC:51903 PPP1R12A-AS1 PPP1R12A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.31 12q21.31 R12A-AS1 Antisense RNAs 1987 2017-02-16 2018-09-07 105369865 ENSG00000257557 OTTHUMG00000170083 NR_146533 27646849 HGNC:51903 +HGNC:55456 PPP1R12A-AS2 PPP1R12A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12q21.2 12q21.2 Antisense RNAs 1987 2021-01-20 2021-01-20 2021-01-20 2021-01-20 105369864 ENSG00000258048 XR_945137 +HGNC:7619 PPP1R12B protein phosphatase 1 regulatory subunit 12B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "MGC87886|MGC131980|PP1bp55" "myosin phosphatase regulatory subunit|myosin phosphatase, target subunit 2" MYPT2 "protein phosphatase 1, regulatory (inhibitor) subunit 12B|protein phosphatase 1, regulatory subunit 12B" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 1998-07-13 2001-08-10 2015-11-18 2015-11-18 4660 ENSG00000077157 OTTHUMG00000041393 uc001gya.3 AB003062 NM_032105 "CCDS44295|CCDS81416|CCDS53458|CCDS73005|CCDS1426|CCDS44294|CCDS53459" O60237 9570949 MGI:1916417 RGD:1309287 603768 HGNC:7619 "ENST00000608999.6|NM_002481.4" +HGNC:18498 PPP1R12BP1 protein phosphatase 1 regulatory subunit 12B pseudogene 1 pseudogene pseudogene Approved Yq11.23 Yq11.23 PPP1R12BPY1 PPP1R12BP "protein phosphatase 1, regulatory (inhibitor) subunit 12B Y-linked pseudogene|protein phosphatase 1, regulatory (inhibitor) subunit 12B pseudogene, Y-linked 1|protein phosphatase 1, regulatory subunit 12B pseudogene, Y-linked 1" 2002-05-22 2010-03-17 2015-11-18 2015-11-18 360021 ENSG00000229238 OTTHUMG00000036764 NG_004755 12815422 PGOHUM00000233885 HGNC:18498 +HGNC:23970 PPP1R12BP2 protein phosphatase 1 regulatory subunit 12B pseudogene 2 pseudogene pseudogene Approved Yq11.223 Yq11.223 "protein phosphatase 1, regulatory (inhibitor) subunit 12B Y-linked pseudogene 2|protein phosphatase 1, regulatory subunit 12B Y-linked pseudogene 2" 2010-03-17 2015-11-18 2015-11-18 360020 ENSG00000205936 OTTHUMG00000044061 NG_002939 12815422 PGOHUM00000234036 HGNC:23970 +HGNC:14947 PPP1R12C protein phosphatase 1 regulatory subunit 12C protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "DKFZP434D0412|p84|MBS85|p85|AAVS1" myosin-binding subunit 85 LENG3 "leukocyte receptor cluster (LRC) member 3|protein phosphatase 1, regulatory (inhibitor) subunit 12C|protein phosphatase 1, regulatory subunit 12C" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 2001-06-29 2015-11-18 2017-08-08 54776 ENSG00000125503 OTTHUMG00000180540 uc002qix.5 AF312028 NM_017607 CCDS12916 Q9BZL4 "11399775|22967807" MGI:1924258 RGD:1584883 613245 HGNC:14947 "ENST00000263433.8|NM_017607.4" +HGNC:14950 PPP1R13B protein phosphatase 1 regulatory subunit 13B protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "p53BP2-like|KIAA0771|p85|ASPP1" "protein phosphatase 1, regulatory (inhibitor) subunit 13B|protein phosphatase 1, regulatory subunit 13B" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits" "403|694" 2001-06-29 2015-11-18 2015-11-18 23368 ENSG00000088808 OTTHUMG00000171647 uc001yof.2 AB018314 NM_015316 CCDS41997 Q96KQ4 9872452 MGI:1336199 RGD:1304651 606455 HGNC:14950 "ENST00000202556.14|NM_015316.3" +HGNC:27069 PPP1R13B-DT PPP1R13B divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 HITT HIF-1alpha inhibitor at translation level LINC00637 long intergenic non-protein coding RNA 637 Divergent transcripts 1990 2012-08-08 2021-01-14 2021-01-14 2021-01-14 145216 ENSG00000258735 OTTHUMG00000171648 uc001yoh.1 NR_038436 "31700144|32203529" LINC00637 HGNC:27069 +HGNC:18838 PPP1R13L protein phosphatase 1 regulatory subunit 13 like protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "RAI|IASPP" RelA-associated Inhibitor "protein phosphatase 1, regulatory (inhibitor) subunit 13 like|protein phosphatase 1, regulatory subunit 13 like" Ankyrin repeat domain containing 403 2004-11-26 2015-11-18 2018-10-09 10848 ENSG00000104881 OTTHUMG00000181784 uc002pbo.4 AF078036 NM_006663 CCDS33050 Q8WUF5 10336463 MGI:3525053 RGD:1593681 607463 HGNC:18838 "ENST00000360957.10|NM_006663.4" +HGNC:14871 PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A protein-coding gene gene with protein product Approved 19q13.1 19q13.1 CPI-17 "17-kDa PKC-potentiated inhibitory protein of PP1|PKC-potentiated inhibitory protein of PP1|17-KDa protein" PPP1INL protein phosphatase 1, regulatory (inhibitor) subunit 14A Protein phosphatase 1 regulatory subunits 694 2001-05-23 2001-07-02 2015-11-18 2015-11-18 94274 ENSG00000167641 OTTHUMG00000181892 uc002ohq.3 AB056508 NM_033256 "CCDS12509|CCDS58660" Q96A00 11467857 MGI:1931139 RGD:620536 608153 HGNC:14871 "ENST00000301242.9|NM_033256.3" +HGNC:9057 PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "SOM172|PNG|PHI-1" PLCB3N protein phosphatase 1, regulatory (inhibitor) subunit 14B Protein phosphatase 1 regulatory subunits 694 2000-03-29 2001-07-06 2015-11-18 2016-10-05 26472 ENSG00000173457 OTTHUMG00000167846 uc001nza.4 X91195 NM_138689 CCDS31596 Q96C90 "8838322|10606530" MGI:107682 RGD:628702 601140 HGNC:9057 "ENST00000309318.8|NM_138689.3" +HGNC:54233 PPP1R14B-AS1 PPP1R14B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Antisense RNAs 1987 2019-04-24 2019-04-24 105369340 ENSG00000256940 NR_135087 HGNC:54233 +HGNC:9058 PPP1R14BP1 protein phosphatase 1 regulatory inhibitor subunit 14B pseudogene 1 pseudogene pseudogene Approved 22q12 22q12 PLCB3NP protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 1 2000-03-29 2001-08-01 2015-11-18 2015-11-18 50516 AF030942 NG_001274 9556220 HGNC:9058 +HGNC:16329 PPP1R14BP2 protein phosphatase 1 regulatory inhibitor subunit 14B pseudogene 2 pseudogene pseudogene Approved 2q33.3 02q33.3 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 2 2001-08-08 2015-11-18 2020-04-20 729406 ENSG00000213082 OTTHUMG00000154793 NG_030152 11948623 PGOHUM00000241090 HGNC:16329 +HGNC:16330 PPP1R14BP3 protein phosphatase 1 regulatory inhibitor subunit 14B pseudogene 3 pseudogene pseudogene Approved 4q31.1 04q31.1 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 3 2001-08-08 2015-11-18 2020-04-20 100507617 ENSG00000179967 OTTHUMG00000161326 NG_030217 11948623 PGOHUM00000245708 HGNC:16330 +HGNC:16331 PPP1R14BP4 protein phosphatase 1 regulatory inhibitor subunit 14B pseudogene 4 pseudogene pseudogene Approved 7p14.2 07p14.2 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 4 2001-08-08 2015-11-18 2020-04-07 94302 ENSG00000270889 OTTHUMG00000184662 NG_030051 11948623 PGOHUM00000232650 HGNC:16331 +HGNC:16332 PPP1R14BP5 protein phosphatase 1 regulatory inhibitor subunit 14B pseudogene 5 pseudogene pseudogene Approved 6q22.32 06q22.32 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 5 2001-08-08 2015-11-18 2020-04-20 442256 ENSG00000213133 OTTHUMG00000015517 NG_030184 11948623 PGOHUM00000243351 HGNC:16332 +HGNC:14952 PPP1R14C protein phosphatase 1 regulatory inhibitor subunit 14C protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "CPI17-like|NY-BR-81|KEPI" kinase C-enhanced PP1 inhibitor protein phosphatase 1, regulatory (inhibitor) subunit 14C Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2016-10-05 81706 ENSG00000198729 OTTHUMG00000015818 uc003qnt.4 AF308297 NM_030949 CCDS5226 Q8TAE6 11948623 MGI:1923392 RGD:620538 613242 HGNC:14952 "ENST00000361131.5|NM_030949.3" +HGNC:14953 PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "CPI17-like|FLJ20251|GBPI-1|MGC119014|MGC119016" "gut and brain phosphatase inhibitor 1|PKC-dependent PP1 inhibitory protein" protein phosphatase 1, regulatory (inhibitor) subunit 14D Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2016-10-05 54866 ENSG00000166143 OTTHUMG00000130064 uc001zmy.3 AK000258 NM_017726 "CCDS45230|CCDS10066" Q9NXH3 11948623 MGI:1919362 RGD:628891 613256 HGNC:14953 "ENST00000299174.10|NM_017726.8" +HGNC:14375 PPP1R15A protein phosphatase 1 regulatory subunit 15A protein-coding gene gene with protein product Approved 19q13.2 19q13.2 GADD34 growth arrest and DNA-damage-inducible 34 "protein phosphatase 1, regulatory (inhibitor) subunit 15A|protein phosphatase 1, regulatory subunit 15A" Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2015-11-18 23645 ENSG00000087074 OTTHUMG00000183330 uc002pky.5 U83981 NM_014330 CCDS12738 O75807 "9153226|9413226" MGI:1927072 RGD:621526 611048 HGNC:14375 "ENST00000200453.6|NM_014330.5" +HGNC:14951 PPP1R15B protein phosphatase 1 regulatory subunit 15B protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ14744 "protein phosphatase 1, regulatory (inhibitor) subunit 15B|protein phosphatase 1, regulatory subunit 15B" Protein phosphatase 1 regulatory subunits 694 2001-06-29 2015-11-18 2015-11-18 84919 ENSG00000158615 OTTHUMG00000036105 uc001hav.5 AK027650 NM_032833 CCDS1445 Q5SWA1 11948623 MGI:2444211 RGD:1307944 613257 460842 HGNC:14951 "ENST00000367188.5|NM_032833.5" HGNC:14951 +HGNC:55838 PPP1R15B-AS1 PPP1R15B and PIK3C2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2021-08-02 2021-08-02 122455336 ENSG00000226330 +HGNC:14941 PPP1R16A protein phosphatase 1 regulatory subunit 16A protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "MGC14333|MYPT3" "protein phosphatase 1, regulatory (inhibitor) subunit 16A|protein phosphatase 1, regulatory subunit 16A" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 2001-06-29 2015-11-18 2015-11-18 84988 ENSG00000160972 OTTHUMG00000165173 uc003zdd.4 NM_032902 CCDS6429 Q96I34 11948623 MGI:1920312 RGD:1307962 609172 HGNC:14941 "ENST00000435887.2|NM_001329443.2" +HGNC:15850 PPP1R16B protein phosphatase 1 regulatory subunit 16B protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "KIAA0823|TIMAP|ANKRD4" "TGF-beta-inhibited membrane-associated protein|ankyrin repeat domain protein 4" "protein phosphatase 1, regulatory (inhibitor) subunit 16B|protein phosphatase 1, regulatory subunit 16B" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits|Myosin phosphatase targeting family" "403|694|1180" 2001-06-29 2015-11-18 2015-11-18 26051 ENSG00000101445 OTTHUMG00000032465 uc002xje.3 AB020630 NM_015568 "CCDS13309|CCDS54462" Q96T49 "10048485|12055102" MGI:2151841 RGD:1589460 613275 HGNC:15850 "ENST00000299824.6|NM_015568.4" +HGNC:16973 PPP1R17 protein phosphatase 1 regulatory subunit 17 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 GSBS G-substrate C7orf16 "chromosome 7 open reading frame 16|protein phosphatase 1, regulatory subunit 17" Protein phosphatase 1 regulatory subunits 694 2003-03-24 2011-10-11 2015-11-18 2016-10-05 10842 ENSG00000106341 OTTHUMG00000128629 uc003tcl.4 AF071789 NM_006658 "CCDS5436|CCDS47570" O96001 "10051666|9920894" MGI:1333876 RGD:628647 604088 HGNC:16973 "ENST00000342032.8|NM_006658.5" +HGNC:29413 PPP1R18 protein phosphatase 1 regulatory subunit 18 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 phostensin protein phosphatase 1 F-actin cytoskeleton targeting subunit KIAA1949 "KIAA1949|protein phosphatase 1, regulatory subunit 18" Protein phosphatase 1 regulatory subunits 694 2004-03-02 2011-10-11 2015-11-18 2016-10-05 170954 ENSG00000146112 OTTHUMG00000031237 uc003nrb.4 AK097089 NM_133471 CCDS43444 Q6NYC8 11853319 MGI:1923698 RGD:1309543 610990 HGNC:29413 "ENST00000274853.8|NM_133471.4" +HGNC:30595 PPP1R21 protein phosphatase 1 regulatory subunit 21 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 FLJ16566 "CCDC128|KLRAQ1" "coiled-coil domain containing 128|KLRAQ motif containing 1|protein phosphatase 1, regulatory subunit 21" Protein phosphatase 1 regulatory subunits 694 2006-08-18 2011-10-11 2015-11-18 2019-03-01 129285 ENSG00000162869 OTTHUMG00000129167 uc002rwm.4 AY134855 NM_152994 "CCDS46278|CCDS54358|CCDS1839" Q6ZMI0 29808498 MGI:1921075 RGD:1565310 618159 HGNC:30595 "ENST00000294952.13|NM_001135629.3" +HGNC:55206 PPP1R21-DT PPP1R21 divergent transcript non-coding RNA RNA, long non-coding Approved 2p16.3 02p16.3 Divergent transcripts 1990 2020-08-21 2020-08-21 118568827 ENSG00000272663 +HGNC:29089 PPP1R26 protein phosphatase 1 regulatory subunit 26 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "DRIM/UTP20 interacting protein|1A6/DRIM (down-regulated in metastasis) interacting protein" KIAA0649 "KIAA0649|protein phosphatase 1, regulatory subunit 26" Protein phosphatase 1 regulatory subunits 694 2004-01-28 2011-10-11 2015-11-18 2015-11-18 9858 ENSG00000196422 OTTHUMG00000020904 uc064wyk.1 AB014549 NM_014811 CCDS6988 Q5T8A7 "9734811|16053918" MGI:2685193 RGD:1595050 614056 HGNC:29089 "ENST00000356818.7|NM_014811.5" +HGNC:48717 PPP1R26-AS1 PPP1R26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 Antisense RNAs 1987 2013-06-07 2017-07-26 100506599 ENSG00000225361 OTTHUMG00000020905 NR_038969 28738804 PPP1R26-AS1 HGNC:48717 +HGNC:42015 PPP1R26P1 protein phosphatase 1 regulatory subunit 26 pseudogene 1 pseudogene pseudogene Approved 13q14.2 13q14.2 KIAA0649P1 "KIAA0649 pseudogene 1|protein phosphatase 1, regulatory subunit 26 pseudogene 1" 2011-06-01 2011-10-11 2015-11-18 2015-11-18 100418740 ENSG00000238086 OTTHUMG00000016899 NG_009009 PGOHUM00000248394 HGNC:42015 +HGNC:42016 PPP1R26P2 protein phosphatase 1 regulatory subunit 26 pseudogene 2 pseudogene pseudogene Approved 22q11.21 22q11.21 KIAA0649P2 "KIAA0649 pseudogene 2|protein phosphatase 1, regulatory subunit 26 pseudogene 2" 2011-06-01 2011-10-11 2015-11-18 2015-11-18 100133064 ENSG00000273643 OTTHUMG00000188358 NG_022867 PGOHUM00000297452 HGNC:42016 +HGNC:42017 PPP1R26P3 protein phosphatase 1 regulatory subunit 26 pseudogene 3 pseudogene pseudogene Approved 22q11.21 22q11.21 KIAA0649P3 "KIAA0649 pseudogene 3|protein phosphatase 1, regulatory subunit 26 pseudogene 3" 2011-06-01 2011-10-11 2015-11-18 2015-11-18 100132173 ENSG00000275060 OTTHUMG00000188349 NG_022868 PGOHUM00000297449 HGNC:42017 +HGNC:42018 PPP1R26P4 protein phosphatase 1 regulatory subunit 26 pseudogene 4 pseudogene pseudogene Approved 22q11.21 22q11.21 KIAA0649P4 "KIAA0649 pseudogene 4|protein phosphatase 1, regulatory subunit 26 pseudogene 4" 2011-06-01 2011-10-11 2015-11-18 2016-07-22 100132295 ENSG00000278008 OTTHUMG00000188024 NG_022874 PGOHUM00000297627 HGNC:42018 +HGNC:42019 PPP1R26P5 protein phosphatase 1 regulatory subunit 26 pseudogene 5 pseudogene pseudogene Approved 22q11.21 22q11.21 KIAA0649P5 "KIAA0649 pseudogene 5|protein phosphatase 1, regulatory subunit 26 pseudogene 5" 2011-06-01 2011-10-11 2015-11-18 2015-11-18 100133040 ENSG00000232771 OTTHUMG00000150826 NG_022876 PGOHUM00000246426 HGNC:42019 +HGNC:16813 PPP1R27 protein phosphatase 1 regulatory subunit 27 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 toonin DYSFIP1 "dysferlin-interacting protein 1 (toonin)|dysferlin interacting protein 1 (toonin)|dysferlin interacting protein 1|protein phosphatase 1, regulatory subunit 27" "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits" "403|694" 2001-10-16 2011-10-11 2015-11-18 2015-11-18 116729 ENSG00000182676 OTTHUMG00000177916 uc002kbj.2 AF434846 NM_001007533 CCDS32767 Q86WC6 MGI:1915951 RGD:1308861 HGNC:16813 "ENST00000330261.5|NM_001007533.4" +HGNC:28869 PPP1R32 protein phosphatase 1 regulatory subunit 32 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "IIIG9|FLJ32771" C11orf66 "chromosome 11 open reading frame 66|protein phosphatase 1, regulatory subunit 32" Protein phosphatase 1 regulatory subunits 694 2006-03-10 2011-10-11 2015-11-18 2019-03-01 220004 ENSG00000162148 OTTHUMG00000168176 uc001nru.3 AK057333 NM_145017 "CCDS8008|CCDS53641" Q7Z5V6 28194645 MGI:1915002 RGD:708532 619047 HGNC:28869 "ENST00000338608.7|NM_145017.3" +HGNC:28320 PPP1R35 protein phosphatase 1 regulatory subunit 35 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MGC22793 C7orf47 "chromosome 7 open reading frame 47|protein phosphatase 1, regulatory subunit 35" Protein phosphatase 1 regulatory subunits 694 2006-08-30 2011-10-11 2015-11-18 2019-03-01 221908 ENSG00000160813 OTTHUMG00000159540 uc003uuy.2 BC026269 NM_145030 CCDS5694 Q8TAP8 "30168418|30230954" MGI:1922853 RGD:1584367 618937 HGNC:28320 "ENST00000292330.3|NM_145030.4" +HGNC:41194 PPP1R35-AS1 PPP1R35 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 Antisense RNAs 1987 2019-07-24 2019-07-24 101927632 ENSG00000240211 OTTHUMG00000159539 XR_927812 HGNC:41194 +HGNC:20097 PPP1R36 protein phosphatase 1 regulatory subunit 36 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 C14orf50 "chromosome 14 open reading frame 50|protein phosphatase 1, regulatory subunit 36" Protein phosphatase 1 regulatory subunits 694 2002-12-18 2011-10-11 2015-11-18 2016-10-05 145376 ENSG00000165807 OTTHUMG00000141316 uc001xhl.1 NM_172365 CCDS9767 Q96LQ0 MGI:2684916 RGD:1309051 HGNC:20097 "ENST00000298705.6|NM_172365.3" HGNC:20097 +HGNC:27607 PPP1R37 protein phosphatase 1 regulatory subunit 37 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 LRRC68 "leucine rich repeat containing 68|protein phosphatase 1, regulatory subunit 37" Protein phosphatase 1 regulatory subunits 694 2008-06-11 2011-10-11 2015-11-18 2015-11-18 284352 ENSG00000104866 OTTHUMG00000168143 uc021uvs.2 BC035704 NM_173634 CCDS56096 O75864 12477932 MGI:2687042 RGD:1595870 HGNC:27607 "ENST00000221462.9|NM_019121.2" +HGNC:33732 PPP1R42 protein phosphatase 1 regulatory subunit 42 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "dtr|TLLR" testis leucine-rich repeat LRRC67 "leucine rich repeat containing 67|protein phosphatase 1, regulatory subunit 42" Protein phosphatase 1 regulatory subunits 694 2008-06-11 2011-10-11 2015-11-18 2016-10-05 286187 ENSG00000178125 OTTHUMG00000164745 uc003xxc.4 BC055413 NM_001013626 CCDS34902 Q7Z4L9 MGI:1921138 RGD:1585679 617720 HGNC:33732 "ENST00000685739.1|NM_001364910.1" +HGNC:9299 PPP2CA protein phosphatase 2 catalytic subunit alpha protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "PP2Calpha|PP2AC" protein phosphatase 2A catalytic subunit, alpha isoform "protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform|protein phosphatase 2, catalytic subunit, alpha isozyme" "Protein phosphatase catalytic subunits|STRIPAK complex" "693|1371" 1992-11-10 2016-02-10 2020-04-21 5515 ENSG00000113575 OTTHUMG00000129119 uc003kze.4 NM_002715 CCDS4173 P67775 8383590 MGI:1321159 RGD:3380 176915 3.1.3.16 HGNC:9299 "ENST00000481195.6|NM_002715.4" HGNC:9299 +HGNC:55266 PPP2CA-DT PPP2CA divergent transcript non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 Divergent transcripts 1990 2020-09-29 2020-09-29 118732304 ENSG00000270177 +HGNC:9300 PPP2CB protein phosphatase 2 catalytic subunit beta protein-coding gene gene with protein product Approved 8p12 08p12 PP2Abeta protein phosphatase 2A catalytic subunit, beta isoform "protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform|protein phosphatase 2, catalytic subunit, beta isozyme" "Protein phosphatase catalytic subunits|STRIPAK complex" "693|1371" 1992-11-10 2016-02-10 2016-02-10 5516 ENSG00000104695 OTTHUMG00000163949 uc003xik.4 NM_001009552 CCDS6079 P62714 8383590 MGI:1321161 RGD:3381 176916 3.1.3.16 HGNC:9300 "ENST00000221138.9|NM_001009552.2" +HGNC:9301 PPP2CBP1 protein phosphatase 2 catalytic subunit beta pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 PPP2CBP "protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform pseudogene|protein phosphatase 2, catalytic subunit, beta isozyme pseudogene|protein phosphatase 2, catalytic subunit, beta isozyme pseudogene 1" 1992-11-10 2010-03-17 2016-02-10 2016-02-10 5517 NG_004793 8383590 PGOHUM00000249065 HGNC:9301 +HGNC:9302 PPP2R1A protein phosphatase 2 scaffold subunit Aalpha protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "PR65A|PP2A-Aalpha|PP2AA" "protein phosphatase 2A, regulatory subunit A, alpha isoform|protein phosphatase 2, 65kDa regulatory subunit A|protein phosphatase 2A structural subunit A, alpha isoform" protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform "Protein phosphatase 2 scaffold subunits|STRIPAK complex|Armadillo like helical domain containing|MicroRNA protein coding host genes" "1266|1371|1492|1691" 1993-01-25 2016-05-13 2018-07-18 5518 ENSG00000105568 OTTHUMG00000137367 uc002pyp.4 NM_014225 "CCDS12849|CCDS86798" P30153 MGI:1926334 RGD:620907 PPP2R1A 605983 460669 3.1.3.16 HGNC:9302 "ENST00000322088.11|NM_014225.6" HGNC:9302 +HGNC:9303 PPP2R1B protein phosphatase 2 scaffold subunit Abeta protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "PR65B|PP2A-Abeta" "PP2A-A-beta|protein phosphatase 2A, regulatory subunit A, beta isoform" "protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform|protein phosphatase 2 regulatory subunit A, beta" "Protein phosphatase 2 scaffold subunits|STRIPAK complex|Armadillo like helical domain containing" "1266|1371|1492" 1993-01-25 2016-05-13 2016-05-13 5519 ENSG00000137713 OTTHUMG00000166741 uc001plw.2 AF087438 NM_002716 "CCDS53706|CCDS53708|CCDS8348|CCDS53707|CCDS8349" P30154 "2159327|9795170" MGI:1920949 RGD:1304764 603113 3.1.3.16 HGNC:9303 "ENST00000527614.6|NM_002716.5" +HGNC:9304 PPP2R2A protein phosphatase 2 regulatory subunit Balpha protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "PR52A|PR55A|B55A|PR55alpha|B55alpha" PP2A subunit B isoform alpha protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform "WD repeat domain containing|Protein phosphatase 2 regulatory subunits" "362|696" 1993-01-25 2016-05-13 2017-04-05 5520 ENSG00000221914 OTTHUMG00000163850 uc003xeu.4 M64929 NM_002717 "CCDS55213|CCDS34867" P63151 1849734 MGI:1919228 RGD:620919 604941 3.1.3.16 HGNC:9304 "ENST00000380737.8|NM_002717.4" +HGNC:9305 PPP2R2B protein phosphatase 2 regulatory subunit Bbeta protein-coding gene gene with protein product Approved 5q32 05q32 "PR55-BETA|PR52B|B55beta" PP2A subunit B isoform beta SCA12 "spinocerebellar ataxia 12|protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform" "WD repeat domain containing|Protein phosphatase 2 regulatory subunits" "362|696" 1993-01-25 2016-05-13 2017-04-05 5521 ENSG00000156475 OTTHUMG00000163381 uc003loe.6 M64930 NM_181678 "CCDS64281|CCDS64282|CCDS4284|CCDS4283|CCDS43380" Q00005 "1849734|10581021" MGI:1920180 RGD:631441 604325 117973 3.1.3.16 HGNC:9305 "ENST00000394411.9|NM_181675.4" HGNC:9305 +HGNC:42984 PPP2R2B-IT1 PPP2R2B intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q32 05q32 PPP2R2B intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-09-14 2015-02-25 2015-02-25 100874361 ENSG00000249553 OTTHUMG00000129687 uc031slr.1 NR_047115 PPP2R2B-IT1 HGNC:42984 +HGNC:9306 PPP2R2C protein phosphatase 2 regulatory subunit Bgamma protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "PR52|IMYPNO|MGC33570|PR55G|B55gamma" PP2A subunit B isoform gamma protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform "WD repeat domain containing|Protein phosphatase 2 regulatory subunits" "362|696" 1993-01-25 2016-05-13 2017-04-05 5522 ENSG00000074211 OTTHUMG00000090445 uc003gjc.4 AF086924 NM_181876 "CCDS3388|CCDS56305|CCDS56304|CCDS3387" Q9Y2T4 "10574460|10945473" MGI:2442660 RGD:620920 605997 3.1.3.16 HGNC:9306 "ENST00000382599.9|NM_020416.4" +HGNC:23732 PPP2R2D protein phosphatase 2 regulatory subunit Bdelta protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "MDS026|B55delta|B55D" PP2A subunit B isoform delta protein phosphatase 2, regulatory subunit B, delta isoform "WD repeat domain containing|Protein phosphatase 2 regulatory subunits" "362|696" 2003-12-04 2016-05-13 2017-04-05 55844 ENSG00000175470 OTTHUMG00000019277 uc031wxk.2 AF220046 NM_018461 CCDS73224 Q66LE6 10819331 MGI:1289252 RGD:708356 613992 HGNC:23732 "ENST00000455566.6|NM_018461.5" +HGNC:44544 PPP2R2DP1 protein phosphatase 2 regulatory subunit Bdelta pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 "protein phosphatase 2, regulatory subunit B, delta pseudogene 1|protein phosphatase 2 regulatory subunit B, delta pseudogene 1" 2012-11-15 2017-04-05 2017-04-05 100327036 ENSG00000231668 OTTHUMG00000155979 NG_016292 PGOHUM00000237997 HGNC:44544 +HGNC:9307 PPP2R3A protein phosphatase 2 regulatory subunit B''alpha protein-coding gene gene with protein product Approved 3q22.2-q22.3 03q22.2-q22.3 "PR130|PR72" "PR130/B''alpha1 subunit|PR72/B''alpha2 subuit" PPP2R3 protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform "Protein phosphatase 2 regulatory subunits|EF-hand domain containing" "696|863" 1993-01-25 2002-04-26 2016-05-13 2018-02-13 5523 ENSG00000073711 OTTHUMG00000159766 uc003eqv.3 L12146 NM_002718 "CCDS3088|CCDS3087|CCDS54642" Q06190 8392071 MGI:2442104 RGD:1306958 604944 3.1.3.16 HGNC:9307 "ENST00000264977.8|NM_002718.5" +HGNC:13417 PPP2R3B protein phosphatase 2 regulatory subunit B''beta protein-coding gene gene with protein product Approved Xp22.3 and Yp11.3 Xp22.3 and Yp11.3 "PPP2R3LY|PR48|PR70" PPP2R3L protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta "Protein phosphatase 2 regulatory subunits|Pseudoautosomal region 1|EF-hand domain containing" "696|715|863" 2002-04-19 2016-05-13 2020-04-02 28227 ENSG00000167393 OTTHUMG00000021052 uc004fot.4 AF215840 NM_013239 CCDS14104 Q9Y5P8 11173861 MGI:1335093 RGD:1588134 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PPP2R3B 300339 HGNC:13417 "ENST00000390665.9|NM_013239.5" +HGNC:17485 PPP2R3C protein phosphatase 2 regulatory subunit B''gamma protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "FLJ20644|G4-1|G5PR" C14orf10 "chromosome 14 open reading frame 10|protein phosphatase 2 (formerly 2A), regulatory subunit B''" Protein phosphatase 2 regulatory subunits 696 2002-11-18 2007-01-22 2017-04-05 2017-04-05 55012 ENSG00000092020 OTTHUMG00000140224 uc001wss.4 AK000651 NM_017917 CCDS9654 Q969Q6 "12167160|16129705" MGI:1930009 RGD:1309207 615902 HGNC:17485 "ENST00000261475.10|NM_017917.4" +HGNC:9309 PPP2R5A protein phosphatase 2 regulatory subunit B'alpha protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "PR61A|B56A|B56alpha" protein phosphatase 2, regulatory subunit B (B56), alpha isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes" "696|1492|1835" 1996-05-08 2016-05-13 2017-04-05 5525 ENSG00000066027 OTTHUMG00000036750 uc001hjb.3 BC022474 NM_006243 "CCDS55686|CCDS1503" Q15172 7592815 MGI:2388479 RGD:1308022 601643 HGNC:9309 "ENST00000261461.7|NM_006243.4" +HGNC:9310 PPP2R5B protein phosphatase 2 regulatory subunit B'beta protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FLJ35411|B56B|PR61B|B56beta" "PP2A, B subunit, B' beta isoform|PP2A, B subunit, B56 beta isoform|PP2A, B subunit, PR61 beta isoform|PP2A, B subunit, R5 beta isoform|serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform" protein phosphatase 2, regulatory subunit B (B56), beta isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing" "696|1492" 1996-05-08 2016-05-13 2017-04-05 5526 ENSG00000068971 OTTHUMG00000150043 uc001oby.4 L42374 NM_006244 CCDS8085 Q15173 7592815 MGI:2388480 RGD:727786 601644 HGNC:9310 "ENST00000164133.7|NM_006244.4" +HGNC:9311 PPP2R5C protein phosphatase 2 regulatory subunit B'gamma protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "B56G|PR61G|B56gamma" protein phosphatase 2, regulatory subunit B (B56), gamma isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing" "696|1492" 1996-05-08 2016-05-13 2017-04-05 5527 ENSG00000078304 OTTHUMG00000171597 uc001yko.4 L42375 NM_002719 "CCDS9964|CCDS53912|CCDS9965|CCDS45163|CCDS53911" Q13362 7592815 MGI:1349475 RGD:1585097 601645 HGNC:9311 +HGNC:17835 PPP2R5CP protein phosphatase 2 regulatory subunit B'gamma pseudogene pseudogene pseudogene Approved 3p21.1 03p21.1 "protein phosphatase 2, regulatory subunit B (B56), gamma isoform pseudogene|protein phosphatase 2, regulatory subunit B', gamma isoform pseudogene|protein phosphatase 2, regulatory subunit B', gamma pseudogene|protein phosphatase 2 regulatory subunit B', gamma pseudogene" 2002-01-18 2017-04-05 2020-04-07 140921 ENSG00000239557 OTTHUMG00000158377 AF411591 NG_052911 PGOHUM00000299440 HGNC:17835 +HGNC:9312 PPP2R5D protein phosphatase 2 regulatory subunit B'delta protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "B56D|B56delta" protein phosphatase 2, regulatory subunit B (B56), delta isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing" "696|1492" 1996-05-08 2016-05-13 2017-04-05 5528 ENSG00000112640 OTTHUMG00000014716 uc003oth.5 L76702 NM_006245 "CCDS43464|CCDS4878|CCDS55002" Q14738 7592815 MGI:2388481 RGD:1306666 601646 460676 HGNC:9312 "ENST00000485511.6|NM_006245.4" HGNC:9312 +HGNC:9313 PPP2R5E protein phosphatase 2 regulatory subunit B'epsilon protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "B56E|B56epsilon" protein phosphatase 2, regulatory subunit B (B56), epsilon isoform "Protein phosphatase 2 regulatory subunits|Armadillo like helical domain containing" "696|1492" 1996-05-08 2016-05-13 2017-04-05 5529 ENSG00000154001 OTTHUMG00000140341 uc001xgd.3 L76703 NM_006246 "CCDS61468|CCDS9758|CCDS61467" Q16537 7592815 MGI:1349473 RGD:1305657 601647 HGNC:9313 "ENST00000337537.8|NM_006246.5" +HGNC:9314 PPP3CA protein phosphatase 3 catalytic subunit alpha protein-coding gene gene with protein product Approved 4q24 04q24 "CNA1|PPP2B" "calcineurin A alpha|protein phosphatase 2B, catalytic subunit, alpha isoform" "CALN|CALNA" "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)|protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform|protein phosphatase 3, catalytic subunit, alpha isozyme" "Protein phosphatase catalytic subunits|MicroRNA protein coding host genes" "693|1691" 1990-06-26 2016-02-10 2016-02-10 5530 ENSG00000138814 OTTHUMG00000133839 uc011cen.2 NM_000944 "CCDS47114|CCDS47113|CCDS34037" Q08209 "2848250|1659808" MGI:107164 RGD:3382 114105 3.1.3.16 HGNC:9314 "ENST00000394854.8|NM_000944.5" HGNC:9314 +HGNC:9315 PPP3CB protein phosphatase 3 catalytic subunit beta protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "CALNA2|CNA2|PP2Bbeta" "calcineurin A beta|protein phosphatase 2B, catalytic subunit, beta isoform" CALNB "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)|protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform|protein phosphatase 3, catalytic subunit, beta isozyme" Protein phosphatase catalytic subunits 693 1992-11-09 2016-02-10 2016-02-10 5532 ENSG00000107758 OTTHUMG00000018472 uc001jue.4 M29551 NM_021132 "CCDS7328|CCDS44437|CCDS44436" P16298 "1659808|2558868" MGI:107163 RGD:3383 114106 3.1.3.16 HGNC:9315 "ENST00000360663.10|NM_021132.4" +HGNC:50750 PPP3CB-AS1 PPP3CB antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 USP54-AS1 Antisense RNAs 1987 2014-06-16 2014-06-16 101929145 ENSG00000221817 OTTHUMG00000018470 NR_132103 PPP3CB-AS1 HGNC:50750 +HGNC:9316 PPP3CC protein phosphatase 3 catalytic subunit gamma protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "CALNA3|PP2Bgamma" "calcineurin A gamma|protein phosphatase 2B, catalytic subunit, gamma isoform" "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)|protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform|protein phosphatase 3, catalytic subunit, gamma isozyme" Protein phosphatase catalytic subunits 693 1993-01-22 2016-02-10 2016-02-10 5533 ENSG00000120910 OTTHUMG00000163802 uc003xbs.4 NM_005605 "CCDS59093|CCDS34859|CCDS59094" P48454 1339277 MGI:107162 RGD:621616 114107 3.1.3.16 HGNC:9316 "ENST00000240139.10|NM_005605.5" HGNC:9316 +HGNC:9317 PPP3R1 protein phosphatase 3 regulatory subunit B, alpha protein-coding gene gene with protein product Approved 2p14 02p14 "CALNB1|CNB|CNB1" "calcineurin B, type I (19kDa)|protein phosphatase 2B regulatory subunit B alpha" "protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)|protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)|protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform|protein phosphatase 3, regulatory subunit B, alpha" "Protein phosphatase 3 regulatory subunits|EF-hand domain containing" "697|863" 1993-01-25 2015-11-18 2015-11-18 5534 ENSG00000221823 OTTHUMG00000129561 uc002sei.2 M30773 NM_000945 CCDS46310 P63098 "8978785|2558868" MGI:107172 RGD:69230 601302 3.1.3.16 HGNC:9317 "ENST00000234310.8|NM_000945.4" +HGNC:9318 PPP3R2 protein phosphatase 3 regulatory subunit B, beta protein-coding gene gene with protein product Approved 9q31.1 09q31.1 PPP3RL "protein phosphatase 3, regulatory subunit B (calcineurin B)-like|calcineurin B, type II (19kDa)|protein phosphatase 2B regulatory subunit 2" "protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), beta isoform (calcineurin B, type II)|protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, beta isoform (calcineurin B, type II)|protein phosphatase 3 (formerly 2B), regulatory subunit B, beta isoform|protein phosphatase 3, regulatory subunit B, beta" "Protein phosphatase 3 regulatory subunits|EF-hand domain containing" "697|863" 1993-01-25 2015-11-18 2016-10-05 5535 ENSG00000188386 OTTHUMG00000020386 uc004bbr.3 AF145026 NM_147180 CCDS6759 Q96LZ3 15865209 MGI:107171 RGD:69232 613821 3.1.3.16 HGNC:9318 "ENST00000374806.2|NM_147180.4" +HGNC:9319 PPP4C protein phosphatase 4 catalytic subunit protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "PP4|PPX" protein phosphatase X, catalytic subunit "protein phosphatase 4 (formerly X), catalytic subunit|protein phosphatase 4, catalytic subunit" Protein phosphatase catalytic subunits 693 1993-01-22 2015-11-17 2015-11-17 5531 ENSG00000149923 OTTHUMG00000132113 uc002dwf.4 NM_002720 CCDS10669 P60510 9177794 MGI:1891763 RGD:621225 602035 3.1.3.16 HGNC:9319 "ENST00000279387.12|NM_002720.3" +HGNC:9320 PPP4R1 protein phosphatase 4 regulatory subunit 1 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 PP4R1 protein phosphatase 4, regulatory subunit 1 "Protein phosphatase 4 regulatory subunits|Armadillo like helical domain containing" "698|1492" 1999-09-30 2015-11-17 2015-11-17 9989 ENSG00000154845 OTTHUMG00000137466 uc002koe.3 AF111106 NM_005134 "CCDS42413|CCDS42412" Q8TF05 10026142 MGI:1917601 RGD:619798 604908 HGNC:9320 "ENST00000400556.8|NM_001042388.3" +HGNC:51112 PPP4R1-AS1 PPP4R1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18p11.22 18p11.22 Antisense RNAs 1987 2014-07-29 2014-07-29 101927323 ENSG00000263627 OTTHUMG00000178597 NR_110773 PPP4R1-AS1 HGNC:51112 +HGNC:15755 PPP4R1L protein phosphatase 4 regulatory subunit 1 like (pseudogene) pseudogene pseudogene Approved 20q13.32 20q13.32 "bA196N14.4|bA196N14.5|PPP4R1P1" C20orf192 "protein phosphatase 4, regulatory subunit 1-like|protein phosphatase 4, regulatory subunit 1-like (pseudogene)" Armadillo like helical domain containing 1492 2001-09-17 2015-11-17 2015-11-17 55370 ENSG00000124224 OTTHUMG00000032838 AF119843 NR_003505 Q9P1A2 "14702039|11780052" PGOHUM00000297027 HGNC:15755 +HGNC:18296 PPP4R2 protein phosphatase 4 regulatory subunit 2 protein-coding gene gene with protein product Approved 3p13 03p13 protein phosphatase 4, regulatory subunit 2 Protein phosphatase 4 regulatory subunits 698 2002-06-13 2015-11-17 2016-10-05 151987 ENSG00000163605 OTTHUMG00000158816 uc003dph.2 AJ271448 NM_174907 "CCDS2917|CCDS82805" Q9NY27 10769191 MGI:3027896 RGD:1307312 613822 HGNC:18296 "ENST00000356692.10|NM_174907.4" +HGNC:20219 PPP4R3A protein phosphatase 4 regulatory subunit 3A protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "FLJ20707|MSTP033|FLFL1|smk-1|smk1|PP4R3" "KIAA2010|SMEK1" "KIAA2010|SMEK homolog 1, suppressor of mek1 (Dictyostelium)|protein phosphatase 4, regulatory subunit 3A" Armadillo like helical domain containing 1492 2003-11-21 2015-06-26 2015-11-17 2016-11-16 55671 ENSG00000100796 OTTHUMG00000171102 AK000714 NM_032560 "CCDS9895|CCDS61532" Q6IN85 "16085932|18487071" MGI:1915984 RGD:1309059 610351 HGNC:20219 "ENST00000554943.6|NM_001366432.2" +HGNC:29267 PPP4R3B protein phosphatase 4 regulatory subunit 3B protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "PSY2|FLFL2|KIAA1387|FLJ31474" SMEK2 "SMEK homolog 2, suppressor of mek1 (Dictyostelium)|protein phosphatase 4, regulatory subunit 3B" Armadillo like helical domain containing 1492 2006-10-12 2015-06-26 2015-11-17 2015-11-17 57223 ENSG00000275052 OTTHUMG00000129336 AB037808 NM_020463 "CCDS62913|CCDS46289|CCDS1855" Q5MIZ7 "16085932|18614045" MGI:2144474 RGD:1309450 610352 HGNC:29267 "ENST00000616407.2|NM_001122964.3" +HGNC:55209 PPP4R3B-DT PPP4R3B divergent transcript non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 Divergent transcripts 1990 2020-08-21 2020-08-21 107985885 ENSG00000272606 +HGNC:33146 PPP4R3C protein phosphatase 4 regulatory subunit 3C protein-coding gene gene with protein product Approved Xp21.3 Xp21.3 "FLJ32867|FLFL3P|smk1" "SMEK3P|PPP4R3CP" "SMEK homolog 3, suppressor of mek1 (Dictyostelium) pseudogene|protein phosphatase 4, regulatory subunit 3C, pseudogene" Armadillo like helical domain containing 1492 2006-10-12 2017-08-14 2017-08-14 2021-10-06 139420 ENSG00000224960 OTTHUMG00000021300 NM_207319 CCDS87732 Q6ZMV5 "MGI:3588286|MGI:3588287" RGD:1559817 PGOHUM00000304537 HGNC:33146 "ENST00000412172.4|NM_207319.4" +HGNC:23788 PPP4R4 protein phosphatase 4 regulatory subunit 4 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "PP4R4|CFAP14" cilia and flagella associated protein 14 KIAA1622 KIAA1622 "Protein phosphatase 4 regulatory subunits|Cilia and flagella associated|Armadillo like helical domain containing" "698|1491|1492" 2003-12-10 2008-09-16 2016-07-01 2016-07-01 57718 ENSG00000119698 OTTHUMG00000171344 uc001ycs.1 "AB046842|BC068491" NM_058237 "CCDS9921|CCDS9922" Q6NUP7 18715871 MGI:1921771 RGD:1560932 616790 HGNC:23788 "ENST00000304338.8|NM_058237.2" +HGNC:9322 PPP5C protein phosphatase 5 catalytic subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 PP5 PPP5 protein phosphatase 5, catalytic subunit "Protein phosphatase catalytic subunits|Tetratricopeptide repeat domain containing" "693|769" 1993-02-05 2016-02-10 2016-10-05 5536 ENSG00000011485 OTTHUMG00000134287 uc002pem.4 NM_006247 CCDS12684 P53041 "8666404|9195923" MGI:102666 RGD:68415 600658 3.1.3.16 HGNC:9322 "ENST00000012443.9|NM_006247.4" +HGNC:44209 PPP5D1P PPP5 tetratricopeptide repeat domain containing 1, pseudogene pseudogene pseudogene Approved 19q13.32 19q13.32 PPP5D1 PPP5 tetratricopeptide repeat domain containing 1 2012-07-20 2021-04-16 2021-04-16 2021-04-16 100506012 ENSG00000230510 OTTHUMG00000183425 uc061agc.1 NR_172902 CCDS86781 HGNC:44209 +HGNC:9323 PPP6C protein phosphatase 6 catalytic subunit protein-coding gene gene with protein product Approved 9q33.3 09q33.3 PP6 protein phosphatase 6, catalytic subunit Protein phosphatase catalytic subunits 693 1996-12-19 2016-02-10 2016-02-10 5537 ENSG00000119414 OTTHUMG00000020671 uc004bpg.5 AF035158 NM_016294 "CCDS48018|CCDS48019|CCDS6861" O00743 9143513 MGI:1915107 RGD:708460 PPP6C 612725 HGNC:9323 "ENST00000373547.9|NM_002721.5" +HGNC:34077 PPP6CP protein phosphatase 6 catalytic subunit pseudogene pseudogene pseudogene Approved Xq22.3 Xq22.3 protein phosphatase 6, catalytic subunit pseudogene 2008-04-17 2016-02-10 2016-02-10 100144631 NG_007543 HGNC:34077 +HGNC:29195 PPP6R1 protein phosphatase 6 regulatory subunit 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SAP190 "KIAA1115|SAPS1" "KIAA1115|SAPS domain family, member 1|protein phosphatase 6, regulatory subunit 1" "Protein phosphatase 6 regulatory subunits|MicroRNA protein coding host genes" "699|1691" 2004-02-10 2010-06-28 2015-11-18 2015-11-18 22870 ENSG00000105063 OTTHUMG00000180704 uc002qjw.5 AB029038 NM_014931 CCDS46186 Q9UPN7 16769727 MGI:2442163 RGD:1311409 610875 HGNC:29195 "ENST00000412770.7|NM_014931.4" +HGNC:19253 PPP6R2 protein phosphatase 6 regulatory subunit 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "dJ579N16.1|SAP190" "KIAA0685|SAPS2" "KIAA0685|SAPS domain family, member 2|protein phosphatase 6, regulatory subunit 2" "Protein phosphatase 6 regulatory subunits|Armadillo like helical domain containing" "699|1492" 2003-11-21 2010-06-28 2015-11-18 2015-11-18 9701 ENSG00000100239 OTTHUMG00000150199 uc003bkz.3 AB014585 NM_014678 "CCDS33681|CCDS74881|CCDS56236|CCDS56235" O75170 16769727 MGI:1918724 RGD:1563990 610877 HGNC:19253 "ENST00000612753.5|NM_001242898.2" +HGNC:39605 PPP6R2P1 protein phosphatase 6 regulatory subunit 2 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 protein phosphatase 6, regulatory subunit 2 pseudogene 1 2011-03-17 2015-11-18 2015-11-18 100631381 ENSG00000233442 OTTHUMG00000074233 NG_029318 PGOHUM00000239142 HGNC:39605 +HGNC:1173 PPP6R3 protein phosphatase 6 regulatory subunit 3 protein-coding gene gene with protein product Approved 11q13 11q13 "SAPLa|DKFZp781E2374|DKFZp781O2362|DKFZp781E17107|SAP190|SAPL|PP6R3|FLJ11058|FLJ43065|KIAA1558|MGC125711|MGC125712" sporulation-induced transcript 4-associated protein "C11orf23|SAPS3" "chromosome 11 open reading frame 23|SAPS domain family, member 3|protein phosphatase 6, regulatory subunit 3" "Protein phosphatase 6 regulatory subunits|Armadillo like helical domain containing" "699|1492" 2000-05-23 2010-06-28 2015-11-18 2020-09-17 55291 ENSG00000110075 OTTHUMG00000167596 uc001onw.4 AF264779 NM_018312 "CCDS53675|CCDS53673|CCDS53674|CCDS53671|CCDS8182|CCDS53672" Q5H9R7 "11401438|16769727" MGI:1921807 RGD:1307145 610879 HGNC:1173 "ENST00000393800.7|NM_001164161.2" +HGNC:30025 PPRC1 PPARG related coactivator 1 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "PRC|KIAA0595|MGC74642" pgc-1 related coactivator peroxisome proliferative activated receptor, gamma, coactivator-related 1 RNA binding motif containing 725 2004-02-19 2019-02-28 2019-02-28 23082 ENSG00000148840 OTTHUMG00000018948 uc001kum.5 AF325193 NM_015062 "CCDS7529|CCDS73186" Q5VV67 "9628581|11340167" MGI:2385096 RGD:1309688 617462 HGNC:30025 "ENST00000278070.7|NM_015062.5" +HGNC:9325 PPT1 palmitoyl-protein thioesterase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "CLN1|INCL" ceroid-lipofuscinosis, neuronal 1, infantile PPT Depalmitoylases 1749 2000-06-09 2008-07-31 2021-04-13 5538 ENSG00000131238 OTTHUMG00000004495 uc001cfb.3 U44772 NM_000310 "CCDS447|CCDS44119|CCDS85955" P50897 "7637805|8325646" MGI:1298204 RGD:61994 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene|http://www.retina-international.org/files/sci-news/pptmut.htm|LRG_690|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_690.xml" 600722 117978 3.1.2.22 HGNC:9325 "ENST00000642050.2|NM_000310.4" HGNC:9325 +HGNC:9326 PPT2 palmitoyl-protein thioesterase 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 1998-09-21 2016-10-05 9374 ENSG00000221988 OTTHUMG00000031257 uc063wvw.1 AF020543 NM_138717 "CCDS4740|CCDS4742" Q9UMR5 "9341199|10051407" MGI:1860075 RGD:620375 603298 477421 3.1.2.22 HGNC:9326 "ENST00000324816.11|NM_005155.7" +HGNC:48343 PPT2-EGFL8 PPT2-EGFL8 readthrough (NMD candidate) other readthrough Approved 6p21.32 06p21.32 2013-05-09 2013-05-09 100532746 ENSG00000258388 OTTHUMG00000171245 NR_037861 HGNC:48343 +HGNC:30695 PPTC7 protein phosphatase targeting COQ7 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 TA-PP2C T cell activation protein phosphatase 2C PTC7 protein phosphatase homolog (S. cerevisiae) Protein phosphatases, Mg2+/Mn2+ dependent 701 2006-02-27 2019-11-26 2019-11-26 160760 ENSG00000196850 OTTHUMG00000169529 uc001trh.2 AF385435 NM_139283 CCDS9149 Q8NI37 "15177553|30267671" MGI:2444593 RGD:1310383 609668 3.1.3.16 HGNC:30695 "ENST00000354300.5|NM_139283.2" +HGNC:28954 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 KIAA0073 "WD repeat domain containing|Cyclophilin peptidylprolyl isomerases|Spliceosomal C complex|Spliceosomal P complex" "362|909|1510|1516" 2005-05-26 2014-11-19 23398 ENSG00000113593 OTTHUMG00000131226 uc003jtv.6 AK025679 NM_015342 "CCDS3985|CCDS64162|CCDS64161" Q96BP3 7584044 MGI:2443069 RGD:1310204 618274 HGNC:28954 "ENST00000261308.10|NM_015342.4" HGNC:28954 +HGNC:9327 PPY pancreatic polypeptide protein-coding gene gene with protein product Approved 17q21.31 17q21.31 PNP "pancreatic polypeptide Y|prepro-PP (prepropancreatic polypeptide)" Neuropeptides 1902 1986-01-01 2013-02-28 5539 ENSG00000108849 OTTHUMG00000181800 uc002iep.4 NM_002722 CCDS11472 P01298 3753985 MGI:97753 RGD:3385 167780 ligandId:1512 HGNC:9327 "ENST00000225992.8|NM_002722.5" +HGNC:9328 PPY2P pancreatic polypeptide 2, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 PPY2 pancreatic polypeptide 2 1999-10-19 2015-02-27 2015-02-27 2015-02-27 23614 ENSG00000265060 OTTHUMG00000179302 AF222903 NR_002181 Q9NRI7 10756099 606638 HGNC:9328 +HGNC:9330 PQBP1 polyglutamine binding protein 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "RENS1|MRXS8|SHS|MRX55|MRX2|MRXS3" "Sutherland-Haan X-linked mental retardation syndrome|mental retardation, X-linked 55|mental retardation, X-linked 2 (non-dysmorphic)" Spliceosomal B complex 1507 1999-01-12 2021-12-07 10084 ENSG00000102103 OTTHUMG00000024128 uc004dlg.4 AJ005893 NM_001032381.1 "CCDS55412|CCDS14309" O60828 "9875212|15024694|14634649" MGI:1859638 RGD:1549750 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PQBP1 300463 117983 HGNC:9330 "ENST00000447146.7|NM_001032382.2" HGNC:9330 +HGNC:30591 PRAC1 PRAC1 small nuclear protein protein-coding gene gene with protein product Approved 17q21.32 17q21.32 prostate, rectum and colon "C17orf92|PRAC" "chromosome 17 open reading frame 92|prostate cancer susceptibility candidate|prostate cancer susceptibility candidate 1" 2008-01-17 2013-08-29 2017-03-02 2017-03-02 84366 ENSG00000159182 OTTHUMG00000159899 AF331165 NM_032391 CCDS11535 Q96KF2 11340635 609819 HGNC:30591 "ENST00000290294.5|NM_032391.3" +HGNC:30143 PRAC2 PRAC2 small nuclear protein protein-coding gene gene with protein product Approved 17q21.32 17q21.32 prostate, rectum and colon 2 "C17orf93|NCRNA00253|HOXB13-AS1|HOXB-AS5" "chromosome 17 open reading frame 93|non-protein coding RNA 253|HOXB13 antisense RNA 1 (non-protein coding)|HOXB cluster antisense RNA 5 (non-protein coding)|HOXB cluster antisense RNA 5|prostate cancer susceptibility candidate 2" 2008-01-17 2013-08-29 2018-02-14 2020-06-15 360205 ENSG00000229637 OTTHUMG00000132085 "AF532777|BX106051" NM_001282275 "CCDS74099|CCDS74100" D3DTV9 "12746837|28557546" 610787 HGNC:30143 "ENST00000422730.4|NM_001282275.2" +HGNC:16047 PRADC1 protease associated domain containing 1 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "MGC13004|PAP21|hPAP21" protease-associated domain-containing glycoprotein 21 kDa C2orf7 chromosome 2 open reading frame 7 2001-07-27 2011-04-15 2016-05-26 2016-05-26 84279 ENSG00000135617 OTTHUMG00000129773 uc002siy.3 BC005069 NM_032319 CCDS1924 Q9BSG0 15498570 MGI:1920577 RGD:1583112 619674 HGNC:16047 "ENST00000258083.3|NM_032319.3" +HGNC:44534 PRADC1P1 protease associated domain containing 1 pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 2012-11-15 2016-05-26 2016-05-26 645571 ENSG00000236165 OTTHUMG00000155852 NG_022245 PGOHUM00000237993 HGNC:44534 +HGNC:28911 PRAF2 PRA1 domain family member 2 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "JM4|Yip6a" "PRA1 domain family 2|PRA1 domain family, member 2" YIP family 1144 2004-09-01 2015-11-18 2015-11-18 11230 ENSG00000243279 OTTHUMG00000034499 uc033ecu.2 BC021213 NM_007213 CCDS14317 O60831 16481131 MGI:1859607 RGD:1566287 300840 HGNC:28911 "ENST00000553851.3|NM_007213.3" +HGNC:25438 PRAG1 PEAK1 related, kinase-activating pseudokinase 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "DKFZp761P0423|SgK223|PRAGMIN|PEAK2|NACK" "Pragmin, RND2 effector protein|sugen kinase 223|PEAK family member 2" 2016-10-12 2017-08-03 2017-08-03 157285 ENSG00000275342 OTTHUMG00000163709 AK122582 NM_001080826 CCDS43706 Q86YV5 "16481321|21873224|25038227" MGI:1196223 RGD:1311793 617344 HGNC:25438 "ENST00000615670.5|NM_001080826.3" +HGNC:52646 PRAL p53 regulation associated lncRNA non-coding RNA RNA, long non-coding Approved 17p13.1 17p13.1 lncRNA-PRAL Long non-coding RNAs with non-systematic symbols 1992 2016-11-30 2016-11-30 2017-04-28 109245082 ENSG00000279296 OTTHUMG00000177909 AK128092 "26663434|28396580" +HGNC:30091 PRAM1 PML-RARA regulated adaptor molecule 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 PML-RAR 2005-07-04 2020-04-01 84106 ENSG00000133246 OTTHUMG00000167924 uc002mkd.4 BC028012 NM_032152 CCDS45954 Q96QH2 "11301322|15572693" MGI:3576625 RGD:1564330 606466 HGNC:30091 "ENST00000423345.5|NM_032152.5" +HGNC:9336 PRAME PRAME nuclear receptor transcriptional regulator protein-coding gene gene with protein product Approved 22q11.22 22q11.22 CT130 cancer/testis antigen 130 MAPE preferentially expressed antigen in melanoma PRAME family 686 1996-06-21 2020-05-21 2020-05-21 23532 ENSG00000185686 OTTHUMG00000151172 uc032qic.2 U65011 NM_206953 CCDS13801 P78395 "9047241|10591208" MGI:1924882 RGD:1596887 606021 HGNC:9336 "ENST00000405655.8|NM_206956.3" +HGNC:28840 PRAMEF1 PRAME family member 1 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2005-06-13 2015-09-10 65121 ENSG00000116721 OTTHUMG00000001928 uc031tpg.1 AL049686 NM_023013 CCDS148 O95521 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:28840 "ENST00000332296.7|NM_023013.4" +HGNC:28841 PRAMEF2 PRAME family member 2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 FLJ43580 PRAME family 686 2005-06-13 2018-07-17 65122 ENSG00000120952 OTTHUMG00000001986 uc001aum.1 NM_023014 CCDS149 O60811 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:28841 "ENST00000240189.2|NM_023014.1" +HGNC:31971 PRAMEF4 PRAME family member 4 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 RP5-845O24.6 PRAME family 686 2005-06-13 2015-09-10 400735 ENSG00000243073 OTTHUMG00000001987 uc001aun.3 NM_001009611 CCDS30592 O60810 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:31971 "ENST00000235349.6|NM_001009611.4" +HGNC:27995 PRAMEF5 PRAME family member 5 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAMEF5L PRAMEF23 PRAME family member 23 PRAME family 686 2005-06-13 2015-09-10 343068 ENSG00000270601 OTTHUMG00000184604 uc001auu.2 NM_001013407 CCDS72708 Q5TYX0 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:27995 +HGNC:30583 PRAMEF6 PRAME family member 6 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2005-06-13 2015-09-10 440561 ENSG00000232423 OTTHUMG00000001984 uc031tpn.1 NM_001010889 CCDS30594 Q5VXH4 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" RGD:1588644 HGNC:30583 "ENST00000376189.5|NM_001010889.2" +HGNC:28415 PRAMEF7 PRAME family member 7 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2005-06-13 2015-09-10 441871 ENSG00000204510 OTTHUMG00000001982 uc057ckj.1 NM_001012277 CCDS30593 Q5VXH5 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:28415 +HGNC:24074 PRAMEF8 PRAME family member 8 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2005-06-13 2015-09-10 391002 ENSG00000182330 OTTHUMG00000008037 uc031tpv.2 NM_001012276 CCDS72709 Q5VWM4 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" RGD:1564061 HGNC:24074 +HGNC:27996 PRAMEF9 PRAME family member 9 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2005-06-13 2016-11-10 343070 ENSG00000204505 OTTHUMG00000189239 uc057ckw.1 AK124292 NM_001010890 CCDS76108 P0DUQ2 HGNC:27996 "ENST00000415919.3|NM_001010890.3" +HGNC:27997 PRAMEF10 PRAME family member 10 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2005-06-13 2018-11-19 343071 ENSG00000187545 OTTHUMG00000001981 uc031tpi.2 AL049682 NM_001039361 CCDS41255 O60809 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:27997 "ENST00000235347.4|NM_001039361.4" +HGNC:14086 PRAMEF11 PRAME family member 11 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2005-06-13 2018-11-19 440560 ENSG00000239810 OTTHUMG00000001929 uc031tph.2 AL049680 NM_001146344 CCDS53268 O60813 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:14086 "ENST00000619922.1|NM_001146344.3" +HGNC:22125 PRAMEF12 PRAME family member 12 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000001927 PRAME family 686 2006-07-04 2018-11-19 390999 ENSG00000116726 OTTHUMG00000001927 uc001aui.5 NM_001080830 CCDS41254 O95522 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" RGD:1587431 HGNC:22125 "ENST00000357726.5|NM_001080830.5" +HGNC:13262 PRAMEF13 PRAME family member 13 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2006-07-04 2019-06-26 400736 ENSG00000279169 OTTHUMG00000189240 NM_001291380 CCDS85927 Q5VWM6 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" PGOHUM00000305958 HGNC:13262 "ENST00000625019.3|NM_001291380.1" +HGNC:13576 PRAMEF14 PRAME family member 14 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000007916 PRAME family 686 2006-07-04 2015-09-10 729528 ENSG00000204481 OTTHUMG00000007916 uc010obi.2 NM_001099854 CCDS76109 Q5SWL7 "MGI:1261918|MGI:1924882|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649971|MGI:3650203|MGI:3650204|MGI:3650" HGNC:13576 "ENST00000334600.7|NM_001024661.2" +HGNC:26764 PRAMEF15 PRAME family member 15 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000007921 PRAME family 686 2006-07-04 2015-09-10 653619 ENSG00000204501 OTTHUMG00000008035 uc001auw.2 NM_001098376 CCDS44059 P0DUQ1 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:26764 "ENST00000376152.2|NM_001098376.3" +HGNC:29485 PRAMEF17 PRAME family member 17 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000007909 PRAME family 686 2006-07-04 2015-09-10 391004 ENSG00000204479 OTTHUMG00000007909 uc009vnz.3 NM_001099851 CCDS41264 Q5VTA0 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" RGD:1587447 HGNC:29485 "ENST00000376098.4|NM_001099851.3" +HGNC:30693 PRAMEF18 PRAME family member 18 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2006-07-04 2016-07-19 391003 ENSG00000279804 OTTHUMG00000191961 uc061fwz.1 NM_001099850 CCDS41258 Q5VWM3 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:30693 +HGNC:24908 PRAMEF19 PRAME family member 19 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000007919 PRAME family 686 2006-07-04 2015-09-10 645414 ENSG00000204480 OTTHUMG00000007919 uc057clc.1 NM_001099790 Q5SWL8 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:24908 +HGNC:25224 PRAMEF20 PRAME family member 20 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "OTTHUMG00000007911|OTTHUMT00000008157" PRAMEF21 PRAME family member 21 PRAME family 686 2006-07-04 2015-09-10 645425 ENSG00000204478 OTTHUMG00000007911 uc009vnv.1 NM_001099852 CCDS41265 Q5VT98 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:25224 +HGNC:34393 PRAMEF22 PRAME family member 22 other unknown Approved 1p36.21 alternate reference locus 01p36.21 alternate reference locus PRAMEF3L PRAME family 686 2008-07-04 2019-06-26 653606 ENSG00000276816 OTTHUMG00000189609 NM_001100631 A3QJZ6 "MGI:1261918|MGI:1890541|MGI:1924882|MGI:2140473|MGI:2140706|MGI:2140708|MGI:2141341|MGI:2156389|MGI:2156390|MGI:2156391|MGI:2679150|MGI:2681870|MGI:2684035|MGI:2684047|MGI:2684051|MGI:3525148|MGI:3588238|MGI:3648891|MGI:3649498|MGI:3649" HGNC:34393 +HGNC:49179 PRAMEF25 PRAME family member 25 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2013-09-24 2016-11-10 441873 ENSG00000229571 OTTHUMG00000074741 NM_001310134 CCDS81265 A6NGN4 HGNC:49179 +HGNC:49178 PRAMEF26 PRAME family member 26 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2013-09-24 2013-09-24 2016-11-10 645359 ENSG00000280267 OTTHUMG00000009499 NM_001306072 CCDS76106 H0Y7S4 "MGI:1924882|MGI:3650204" HGNC:49178 "ENST00000624207.2|NM_001306072.3" +HGNC:51234 PRAMEF27 PRAME family member 27 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAME family 686 2015-09-17 2016-11-10 101929983 ENSG00000274764 OTTHUMG00000074727 NM_001300891 CCDS72704 A3QJZ7 MGI:1924882 HGNC:51234 "ENST00000436041.6|NM_001300891.2" +HGNC:51890 PRAMEF28P PRAME family member 28, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 PRAMEF28 PRAME family member 28 2015-09-17 2016-07-19 2016-07-19 2016-09-27 102724742 ENSG00000274178 OTTHUMG00000189309 PGOHUM00000305974 HGNC:51890 +HGNC:51891 PRAMEF29P PRAME family member 29, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2015-09-17 2015-09-17 729356 ENSG00000234064 OTTHUMG00000001983 NG_022769 PGOHUM00000296214 HGNC:51891 +HGNC:51892 PRAMEF30P PRAME family member 30, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2015-09-17 2015-09-17 441870 ENSG00000231103 OTTHUMG00000001930 NG_028823 PGOHUM00000295548 HGNC:51892 +HGNC:51893 PRAMEF31P PRAME family member 31, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2015-09-17 2015-09-17 100129611 ENSG00000250894 OTTHUMG00000001985 NG_028824 PGOHUM00000296220 HGNC:51893 +HGNC:51894 PRAMEF32P PRAME family member 32, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2015-09-17 2015-09-17 650236 ENSG00000231219 OTTHUMG00000008039 NG_022713 PGOHUM00000295559 HGNC:51894 +HGNC:49193 PRAMEF33 PRAME family member 33 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 PRAMEF33P PRAME family member 33, pseudogene 2015-09-17 2017-01-27 2017-01-27 2017-01-27 645382 ENSG00000237700 OTTHUMG00000008036 NM_001291381 CCDS85928 A0A0G2JMD5 "MGI:1261918|MGI:1924882|MGI:2140706|MGI:2141341|MGI:3525148|MGI:3588238|MGI:3649968|MGI:3651680|MGI:3704104|MGI:3704250|MGI:3779601|MGI:3779772|MGI:3781282|MGI:3781437|MGI:3795847" HGNC:49193 "ENST00000437300.2|NM_001291381.1" +HGNC:51895 PRAMEF34P PRAME family member 34, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2015-09-17 2015-09-17 649324 ENSG00000277862 OTTHUMG00000074740 NR_111947 PGOHUM00000295551 HGNC:51895 +HGNC:51896 PRAMEF35P PRAME family member 35, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2015-09-17 2015-09-17 100419649 ENSG00000236179 OTTHUMG00000009502 NG_026911 PGOHUM00000295552 HGNC:51896 +HGNC:51897 PRAMEF36P PRAME family member 36, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2015-09-17 2015-09-17 645354 ENSG00000229978 OTTHUMG00000009501 NR_111945 PGOHUM00000296219 HGNC:51897 +HGNC:34302 PRAMENP PRAME N-terminal like, pseudogene pseudogene pseudogene Approved 22q11.22 22q11.22 FLJ16327 "PRAMEL|PRAMEF24P" "preferentially expressed antigen in melanoma-like|PRAME family member 24, pseudogene" PRAME family 686 2008-06-11 2013-09-27 2019-02-20 2019-02-20 649179 ENSG00000197549 OTTHUMG00000150836 NR_135291 HGNC:34302 +HGNC:51126 PRANCR progenitor renewal associated non-coding RNA non-coding RNA RNA, long non-coding Approved 12q15 12q15 "LINC01481|CNOT2-DT" "long intergenic non-protein coding RNA 1481|CNOT2 divergent transcript" Long non-coding RNAs with non-systematic symbols 1992 2014-07-30 2019-12-06 2019-12-06 2019-12-06 101928062 ENSG00000257815 OTTHUMG00000169448 NR_120460 31804951 619085 LINC01481 HGNC:51126 +HGNC:23304 PRAP1 proline rich acidic protein 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 UPA 2004-04-20 2016-06-06 2016-06-06 118471 ENSG00000165828 OTTHUMG00000019312 uc021qbf.2 AF421885 NM_145202 "CCDS44498|CCDS7679" Q96NZ9 "14583459|20674898" MGI:893573 RGD:61876 609776 HGNC:23304 "ENST00000433452.6|NM_145202.5" +HGNC:9337 PRB1 proline rich protein BstNI subfamily 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "PM|PMF|PMS|PRB1M|PRB1L" proline rich protein BstNI subfamily 1 (gene/pseudogene) Proline rich proteins 972 2001-06-22 2020-05-01 2020-05-01 5542 ENSG00000251655 OTTHUMG00000157263 uc001qzu.2 NM_005039 "CCDS8642|CCDS55805" P04280 8317492 "MGI:1927478|MGI:3645847" RGD:628796 180989 HGNC:9337 +HGNC:9338 PRB2 proline rich protein BstNI subfamily 2 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "PRPPRB1|Ps|cP7" Proline rich proteins 972 2001-06-22 2016-06-06 2016-06-06 653247 ENSG00000121335 OTTHUMG00000156975 uc010shk.2 K03208 NM_006248 CCDS41757 P02812 8554050 MGI:2681872 168810 HGNC:9338 "ENST00000389362.6|NM_006248.4" +HGNC:9339 PRB3 proline rich protein BstNI subfamily 3 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 PRG Proline rich proteins 972 2001-06-22 2016-06-06 2020-04-01 5544 ENSG00000197870 OTTHUMG00000169065 uc058lgt.1 NM_006249 Q04118 1894623 "MGI:1927478|MGI:2681872|MGI:3645847" 168840 HGNC:9339 "ENST00000538488.3|NM_001394862.1" +HGNC:9340 PRB4 proline rich protein BstNI subfamily 4 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 Proline rich proteins 972 2001-06-22 2016-06-06 2016-06-06 5545 ENSG00000230657 OTTHUMG00000169116 uc001qzt.5 NM_002723 "CCDS58208|CCDS8641" P10163 "MGI:1927478|MGI:2681872|MGI:3645847" RGD:628797 180990 HGNC:9340 "ENST00000279575.7|NM_002723.6" +HGNC:9341 PRC1 protein regulator of cytokinesis 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 ASE1 anaphase spindle elongation 1 homolog (S. cerevisiae) 1999-07-01 2006-07-07 2016-04-25 9055 ENSG00000198901 OTTHUMG00000171685 uc002bqn.5 AF044588 NM_003981 "CCDS45353|CCDS45352|CCDS32334" O43663 9885575 MGI:1858961 RGD:1311754 603484 HGNC:9341 "ENST00000394249.8|NM_003981.4" +HGNC:48587 PRC1-AS1 PRC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Antisense RNAs 1987 2013-05-29 2013-05-29 100507118 ENSG00000258725 OTTHUMG00000171686 NR_051984 PRC1-AS1 HGNC:48587 +HGNC:9343 PRCC proline rich mitotic checkpoint control factor protein-coding gene gene with protein product Approved 1q23.1 01q23.1 RCCP1 papillary renal cell carcinoma (translocation-associated) Spliceosomal Bact complex 1508 1996-09-03 2018-06-26 2018-06-26 5546 ENSG00000143294 OTTHUMG00000041294 uc001fqa.4 X99720 NM_005973 CCDS1157 Q92733 "8872474|11717438" MGI:2137738 RGD:1309037 PRCC 179755 117989 HGNC:9343 "ENST00000271526.9|NM_005973.5" +HGNC:32528 PRCD photoreceptor disc component protein-coding gene gene with protein product Approved 17q25.1 17q25.1 RP36 progressive rod-cone degeneration 2006-09-21 2017-01-10 2021-05-26 768206 ENSG00000214140 OTTHUMG00000132200 uc002jrx.3 DQ390338 NM_001077620 CCDS42382 Q00LT1 16938425 MGI:3649529 RGD:6488422 610598 117992 HGNC:32528 "ENST00000592014.6|NM_001077620.3" HGNC:32528 +HGNC:9344 PRCP prolylcarboxypeptidase protein-coding gene gene with protein product Approved 11q14 11q14 "PCP|HUMPCP" angiotensinase C prolylcarboxypeptidase (angiotensinase C) "Minor histocompatibility antigens|M14 carboxypeptidases" "870|1321" 1997-11-06 2015-11-09 2019-08-21 5547 ENSG00000137509 OTTHUMG00000166899 uc001ozs.4 "BC001500|BI827978|L13977" NM_005040 "CCDS8262|CCDS41695" P42785 8344943 MGI:1919711 RGD:1307842 176785 S28.001 objectId:1584 HGNC:9344 "ENST00000313010.8|NM_005040.4" +HGNC:54653 PRCPP1 PRCP pseudogene 1 pseudogene pseudogene Approved 2q11.2 02q11.2 2019-11-08 2019-11-08 100421289 ENSG00000232556 NG_023596 +HGNC:9346 PRDM1 PR/SET domain 1 protein-coding gene gene with protein product Approved 6q21 06q21 PRDI-BF1 BLIMP1 "PR domain containing 1, with ZNF domain|PR domain 1" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 1994-09-14 2016-07-18 2016-07-18 639 ENSG00000057657 OTTHUMG00000015299 uc003prd.3 NM_001198 "CCDS34505|CCDS5054" O75626 1851123 MGI:99655 RGD:1311765 PRDM1 603423 470904 HGNC:9346 "ENST00000369096.9|NM_001198.4" +HGNC:9347 PRDM2 PR/SET domain 2 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 "RIZ|RIZ1|RIZ2|KMT8|MTB-ZF|HUMHOXY1|KMT8A" "retinoblastoma protein-binding zinc finger protein|retinoblastoma protein-interacting zinc finger protein|MTE-binding protein|zinc-finger DNA-binding protein|GATA-3 binding protein G3B" "PR domain containing 2, with ZNF domain|PR domain 2" "Lysine methyltransferases|PR/SET domain family" "487|1197" 1999-08-23 2016-07-18 2016-11-03 7799 ENSG00000116731 OTTHUMG00000007917 uc001avi.3 U17838 NM_012231 "CCDS30603|CCDS151|CCDS44061|CCDS150" Q13029 7538672 MGI:107628 RGD:1594531 601196 objectId:2699 HGNC:9347 "ENST00000311066.10|NM_001393986.1" +HGNC:9348 PRDM4 PR/SET domain 4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 PFM1 "PR domain containing 4|PR domain 4" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 1999-08-23 2016-07-18 2016-07-18 11108 ENSG00000110851 OTTHUMG00000169914 uc001tmp.4 AF144757 NM_012406 CCDS9115 Q9UKN5 10552934 MGI:1920093 RGD:619929 605780 HGNC:9348 "ENST00000228437.10|NM_012406.4" +HGNC:56186 PRDM4-AS1 PRDM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q23.3 12q23.3 Antisense RNAs 1987 2022-01-17 2022-01-17 101929162 ENSG00000258136 NR_120474 +HGNC:9349 PRDM5 PR/SET domain 5 protein-coding gene gene with protein product Approved 4q27 04q27 PFM2 "PR domain containing 5|PR domain 5" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 1999-08-23 2016-07-18 2021-12-07 11107 ENSG00000138738 OTTHUMG00000132970 uc003idn.4 AF272897 NM_001300823 "CCDS75188|CCDS3716|CCDS75187" Q9NQX1 "15077163|21664999" MGI:1918029 RGD:1588700 614161 270336 2.1.1.- HGNC:9349 "ENST00000264808.8|NM_018699.4" HGNC:9349 +HGNC:9350 PRDM6 PR/SET domain 6 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "PRISM|KMT8C" "PR domain containing 6|PR domain 6" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family" "28|487|1197" 1999-08-23 2016-07-18 2018-11-19 93166 ENSG00000061455 OTTHUMG00000150469 uc003kti.4 AF272898 NM_001136239 CCDS47259 Q9NQX0 "16537907|27716515" MGI:2684938 RGD:1559594 616982 461326 2.1.1.43 HGNC:9350 "ENST00000407847.5|NM_001136239.4" HGNC:9350 +HGNC:55869 PRDM6-AS1 PRDM6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Antisense RNAs 1987 2021-09-06 2021-09-06 105379152 ENSG00000223652 NR_146771 +HGNC:9351 PRDM7 PR/SET domain 7 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 ZNF910 "PR domain containing 7|PR domain 7" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 1999-08-23 2016-07-18 2021-04-27 11105 ENSG00000126856 OTTHUMG00000138990 uc010cje.4 AF274347 NM_001098173 CCDS45557 Q9NQW5 "17916234|27129774" 609759 2.1.1.43 HGNC:9351 "ENST00000449207.8|NM_001098173.2" +HGNC:13993 PRDM8 PR/SET domain 8 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 KMT8D "PR domain containing 8|PR domain 8" "Lysine methyltransferases|PR/SET domain family" "487|1197" 2000-11-28 2016-07-18 2016-11-03 56978 ENSG00000152784 OTTHUMG00000160885 uc010ijo.4 AF275815 NM_001099403 CCDS43243 Q9NQV8 22284184 MGI:1924880 RGD:1311628 616639 327299 HGNC:13993 "ENST00000415738.3|NM_001099403.2" HGNC:13993 +HGNC:55581 PRDM8-AS1 PRDM8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 Antisense RNAs 1987 2021-04-23 2021-04-23 105377303 ENSG00000248719 XR_938928 +HGNC:13994 PRDM9 PR/SET domain 9 protein-coding gene gene with protein product Approved 5p14.2 05p14.2 "PFM6|ZNF899|KMT8B|Meisetz" "PR-domain containing protein 9|histone-lysine N-methyltransferase PRDM9" MSBP3 "minisatellite binding protein 3, 115kDa|minisatellite binding protein 3 (115kD)|PR domain containing 9|PR domain 9" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family" "28|487|1197" 2000-11-28 2016-07-18 2022-03-03 56979 ENSG00000164256 OTTHUMG00000161918 uc003jgo.3 AF275816 NM_020227 CCDS43307 Q9NQV7 "10668202|2062643|24634223" MGI:2384854 RGD:1305247 609760 2.1.1.43 HGNC:13994 "ENST00000296682.4|NM_020227.4" +HGNC:13995 PRDM10 PR/SET domain 10 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "KIAA1231|PFM7|MGC131802" "PRDM zinc finger transcription factor|PR-domain family member 7|tristanin" "PR domain containing 10|PR domain 10" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2000-11-28 2016-07-18 2016-07-18 56980 ENSG00000170325 OTTHUMG00000165762 uc001qfn.4 AF275817 NM_199437 "CCDS44772|CCDS8484|CCDS8485|CCDS44771" Q9NQV6 12175877 MGI:2682952 RGD:1560384 618319 HGNC:13995 "ENST00000360871.8|NM_199437.2" +HGNC:30468 PRDM10-DT PRDM10 divergent transcript non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 FLJ31394 "C11orf37|NCRNA00167|LINC00167" "chromosome 11 open reading frame 37|non-protein coding RNA 167|long intergenic non-protein coding RNA 167" Divergent transcripts 1990 2005-09-18 2021-07-12 2021-07-12 2021-07-12 440072 ENSG00000233220 OTTHUMG00000165763 uc058jcj.1 AK055956 NR_024233 Q96N53 LINC00167 HGNC:30468 +HGNC:13996 PRDM11 PR/SET domain 11 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 PFM8 PR-domain containing protein 11 "PR domain containing 11|PR domain 11" PR/SET domain family 1197 2000-11-28 2016-07-18 2016-10-05 56981 ENSG00000019485 OTTHUMG00000166478 uc031qaa.2 AF275818 NM_020229 "CCDS73277|CCDS58130" Q9NQV5 MGI:2685553 RGD:1597330 616347 HGNC:13996 "ENST00000683152.1|NM_001384648.1" +HGNC:13997 PRDM12 PR/SET domain 12 protein-coding gene gene with protein product Approved 9q34.12 09q34.12 PFM9 "PR-domain containing protein 12|PR-domain zinc finger protein 12" "PR domain containing 12|PR domain 12" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2000-11-28 2016-07-18 2021-12-07 59335 ENSG00000130711 OTTHUMG00000020808 uc004bzt.2 AY004252 NM_021619 CCDS6934 Q9H4Q4 "14523459|26005867" MGI:2685844 RGD:1586401 616458 470906 HGNC:13997 "ENST00000253008.3|NM_021619.3" HGNC:13997 +HGNC:13998 PRDM13 PR/SET domain 13 protein-coding gene gene with protein product Approved 6q16.2 06q16.2 PFM10 "PR domain containing 13|PR domain 13" PR/SET domain family 1197 2000-11-28 2016-07-18 2021-12-07 59336 ENSG00000112238 OTTHUMG00000015269 uc003pqg.2 AY004253 NM_021620 CCDS43487 Q9H4Q3 26507665 MGI:2448528 RGD:1589883 616741 HGNC:13998 "ENST00000369215.5|NM_021620.4" HGNC:13998 +HGNC:14001 PRDM14 PR/SET domain 14 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "PR domain containing 14|PR domain 14" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2000-11-28 2016-07-18 2016-07-18 63978 ENSG00000147596 OTTHUMG00000150495 uc003xym.3 AF319458 NM_024504 CCDS6206 Q9GZV8 MGI:3588194 RGD:2319590 611781 HGNC:14001 "ENST00000276594.3|NM_024504.4" +HGNC:13999 PRDM15 PR/SET domain 15 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "ZNF298|C21orf83" "chromosome 21 open reading frame 83|PR domain containing 15|PR domain 15" "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2000-11-28 2016-07-18 2016-07-18 63977 ENSG00000141956 OTTHUMG00000086781 uc002yzq.1 AF276513 NM_022115 "CCDS13676|CCDS42932|CCDS63370" P57071 "12036297|12036298" MGI:1930121 RGD:1310055 617692 HGNC:13999 "ENST00000398548.6|NM_001040424.3" +HGNC:14000 PRDM16 PR/SET domain 16 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "MEL1|PFM13|KIAA1675|MGC166915|KMT8F" "MDS1/EVI1-like|PR-domain zinc finger protein 16|transcription factor MEL1" "PR domain containing 16|PR domain 16" "Zinc fingers C2H2-type|Lysine methyltransferases|PR/SET domain family|MicroRNA protein coding host genes" "28|487|1197|1691" 2000-11-28 2016-07-18 2016-11-03 63976 ENSG00000142611 OTTHUMG00000000581 uc001akf.4 AF294278 NM_022114 "CCDS44048|CCDS41236" Q9HAZ2 "11050005|27151440" MGI:1917923 RGD:2324431 PRDM16 605557 358598 HGNC:14000 "ENST00000270722.10|NM_022114.4" HGNC:14000 +HGNC:48664 PRDM16-DT PRDM16 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 "FLJ42875|lnc-dPrdm16" LINC00982 long intergenic non-protein coding RNA 982 Divergent transcripts 1990 2013-07-01 2019-02-12 2019-02-12 2019-02-14 440556 ENSG00000177133 OTTHUMG00000000563 NR_015440 "23801869|26334618|29626186" MGI:3651882 LINC00982 HGNC:48664 +HGNC:9352 PRDX1 peroxiredoxin 1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 NKEFA PAGA Peroxiredoxins 953 1993-11-01 2014-11-19 5052 ENSG00000117450 OTTHUMG00000007738 uc001cob.4 BC021683 NM_181697 CCDS522 Q06830 8496166 MGI:99523 RGD:620039 176763 HGNC:9352 "ENST00000319248.13|NM_181697.3" +HGNC:11711 PRDX1P1 peroxiredoxin 1 pseudogene 1 pseudogene pseudogene Approved 9p23 09p23 thiol-specific antioxidant 2 "PAGB|TDPX2" "proliferation-associated gene B|thioredoxin-dependent peroxide reductase 2" 1993-11-01 2015-02-27 2015-02-27 2015-02-27 7002 ENSG00000214121 OTTHUMG00000019559 X72297 NG_001201 "8496166|8188254" HGNC:11711 +HGNC:9353 PRDX2 peroxiredoxin 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "PRP|NKEFB|TSA|PRXII|PRX2|MGC4104" "thioredoxin-dependent peroxide reductase 1|thiol-specific antioxidant 1|natural killer-enhancing factor B|thioredoxin peroxidase 1|torin" TDPX1 Peroxiredoxins 953 1995-07-06 2016-10-05 7001 ENSG00000167815 OTTHUMG00000134285 uc002mvd.5 NM_005809 CCDS12281 P32119 7607688 MGI:109486 RGD:3838 600538 HGNC:9353 "ENST00000301522.3|NM_005809.6" +HGNC:30020 PRDX2P1 peroxiredoxin 2 pseudogene 1 pseudogene pseudogene Approved 13q12.3 13q12.3 2003-12-19 2016-10-05 359844 ENSG00000215049 OTTHUMG00000016666 NG_002915 7607688 PGOHUM00000248557 HGNC:30020 +HGNC:44967 PRDX2P2 peroxiredoxin 2 pseudogene 2 pseudogene pseudogene Approved 10p11.21 10p11.21 2012-12-20 2012-12-20 646218 ENSG00000213724 OTTHUMG00000017949 NG_022167 PGOHUM00000238721 HGNC:44967 +HGNC:44968 PRDX2P3 peroxiredoxin 2 pseudogene 3 pseudogene pseudogene Approved 5q35.3 05q35.3 2012-12-20 2012-12-20 100418943 ENSG00000249140 OTTHUMG00000163176 NG_024751 PGOHUM00000235866 HGNC:44968 +HGNC:44969 PRDX2P4 peroxiredoxin 2 pseudogene 4 pseudogene pseudogene Approved 6q16.3 06q16.3 2012-12-20 2016-10-05 442239 ENSG00000213177 OTTHUMG00000015274 NG_022363 PGOHUM00000260186 HGNC:44969 +HGNC:9354 PRDX3 peroxiredoxin 3 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "MER5|AOP-1|SP-22" AOP1 antioxidant protein 1 Peroxiredoxins 953 1999-08-12 2016-10-05 10935 ENSG00000165672 OTTHUMG00000019146 uc001lec.5 D49396 NM_006793 CCDS7611 P30048 "7733872|9363753" MGI:88034 RGD:620040 604769 470908 HGNC:9354 "ENST00000298510.4|NM_006793.5" +HGNC:39264 PRDX3P1 peroxiredoxin 3 pseudogene 1 pseudogene pseudogene Approved 22q13.1 22q13.1 2010-11-24 2010-11-24 100419031 ENSG00000229598 OTTHUMG00000151027 NG_027433 PGOHUM00000246332 HGNC:39264 +HGNC:39265 PRDX3P2 peroxiredoxin 3 pseudogene 2 pseudogene pseudogene Approved 1p35.3 01p35.3 2010-11-24 2010-11-24 100128092 ENSG00000231468 OTTHUMG00000003652 NG_022715 PGOHUM00000243950 HGNC:39265 +HGNC:39266 PRDX3P3 peroxiredoxin 3 pseudogene 3 pseudogene pseudogene Approved 13q13.3 13q13.3 2010-11-24 2010-11-24 100128902 ENSG00000234701 OTTHUMG00000016757 NG_021959 PGOHUM00000248369 HGNC:39266 +HGNC:44643 PRDX3P4 peroxiredoxin 3 pseudogene 4 pseudogene pseudogene Approved 3p14.1 03p14.1 2012-11-23 2012-11-23 100418955 ENSG00000239926 OTTHUMG00000158794 NG_031930 PGOHUM00000238048 HGNC:44643 +HGNC:17169 PRDX4 peroxiredoxin 4 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 AOE37-2 Peroxiredoxins 953 2001-11-14 2020-04-02 10549 ENSG00000123131 OTTHUMG00000021253 uc004dam.4 U25182 NM_006406 CCDS14206 Q13162 9388242 MGI:1859815 RGD:620043 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRDX4 300927 HGNC:17169 "ENST00000379341.9|NM_006406.2" +HGNC:43598 PRDX4P1 peroxiredoxin 4 pseudogene 1 pseudogene pseudogene Approved 4p12 04p12 2011-11-23 2014-02-12 100418949 ENSG00000248987 OTTHUMG00000162177 NG_025098 PGOHUM00000245509 HGNC:43598 +HGNC:43599 PRDX4P2 peroxiredoxin 4 pseudogene 2 pseudogene pseudogene Approved 5p13.2 05p13.2 2011-11-23 2011-11-23 100418942 NG_024668 PGOHUM00000260055 HGNC:43599 +HGNC:9355 PRDX5 peroxiredoxin 5 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ACR1|AOEB166|MGC142285|PRXV|PMP20|B166|PRDX6|PLP|SBBI10|MGC117264|MGC142283" "antioxidant enzyme B166|thioredoxin peroxidase PMP20|peroxisomal antioxidant enzyme|TPx type VI|liver tissue 2D-page spot 71B|Alu co-repressor 1" Peroxiredoxins 953 2000-07-31 2016-10-05 25824 ENSG00000126432 OTTHUMG00000168805 uc001nzu.4 AF197952 NM_181651 "CCDS8071|CCDS8070|CCDS8069" P30044 "10514471|10521424" MGI:1859821 RGD:71007 606583 HGNC:9355 "ENST00000265462.9|NM_012094.5" +HGNC:16753 PRDX6 peroxiredoxin 6 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "AOP2|KIAA0106|1-Cys|NSGPx|PRX|aiPLA2|MGC46173|p29" Peroxiredoxins 953 2003-04-03 2016-10-05 9588 ENSG00000117592 OTTHUMG00000034804 uc001giy.2 D14662 NM_004905 CCDS1307 P30041 11233154 MGI:894320 RGD:71005 602316 HGNC:16753 "ENST00000340385.6|NM_004905.3" +HGNC:54870 PRDX6-AS1 PRDX6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 Antisense RNAs 1987 2020-04-01 2021-10-08 101928673 ENSG00000203739 NR_125960 32211330 +HGNC:9356 PREB prolactin regulatory element binding protein-coding gene gene with protein product Approved 2p23.3 02p23.3 SEC12 WD repeat domain containing 362 1999-05-17 2016-10-05 10113 ENSG00000138073 OTTHUMG00000097076 uc002rix.3 NM_013388 "CCDS82431|CCDS1738" Q9HCU5 "10194769|12735795" MGI:1355326 RGD:61929 606395 HGNC:9356 "ENST00000260643.7|NM_013388.6" +HGNC:27492 PRECSIT p53 regulated carcinoma associated Stat3 activating long intergenic non-protein coding transcript non-coding RNA RNA, long non-coding Approved 13q34 13q34 "C13orf29|NCRNA00346|LINC00346" "chromosome 13 open reading frame 29|non-protein coding RNA 346|long intergenic non-protein coding RNA 346" Long non-coding RNAs with non-systematic symbols 1992 2006-08-04 2019-12-18 2019-12-18 2019-12-18 283487 ENSG00000255874 OTTHUMG00000187398 uc001vrk.3 NR_027701 "29228425|31837949" LINC00346 HGNC:27492 +HGNC:30255 PRELID1 PRELI domain containing 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "CGI-106|PX19|PRELI" "protein of relevant evolutionary and lymphoid interest|px19-like protein" PRELI domain containing 1295 2007-02-20 2014-11-19 27166 ENSG00000169230 OTTHUMG00000130847 uc003mfx.5 BC013748 NM_013237 "CCDS64328|CCDS4415" Q9Y255 "10784606|14640972" MGI:1913744 RGD:1308082 605733 HGNC:30255 "ENST00000303204.9|NM_013237.4" +HGNC:43886 PRELID1P1 PRELID1 pseudogene 1 pseudogene pseudogene Approved 6q22.32 06q22.32 PRELI domain containing 1 pseudogene 1 2012-04-23 2020-01-08 2020-01-08 728666 ENSG00000217325 OTTHUMG00000015520 NG_022903 PGOHUM00000243766 HGNC:43886 +HGNC:43887 PRELID1P2 PRELID1 pseudogene 2 pseudogene pseudogene Approved 6p22.2 06p22.2 PRELI domain containing 1 pseudogene 2 2012-04-23 2020-01-08 2020-01-08 100419971 ENSG00000217408 OTTHUMG00000014392 NG_025789 PGOHUM00000243079 HGNC:43887 +HGNC:43888 PRELID1P3 PRELID1 pseudogene 3 pseudogene pseudogene Approved 10q21.3 10q21.3 PRELI domain containing 1 pseudogene 3 2012-04-23 2020-01-08 2020-01-08 100420046 ENSG00000235816 OTTHUMG00000018316 NG_053187 PGOHUM00000238812 HGNC:43888 +HGNC:43889 PRELID1P4 PRELID1 pseudogene 4 pseudogene pseudogene Approved 15q14 15q14 PRELI domain containing 1 pseudogene 4 2012-04-23 2020-01-08 2020-01-08 390572 ENSG00000259592 OTTHUMG00000172306 NG_022107 PGOHUM00000246746 HGNC:43889 +HGNC:54770 PRELID1P5 PRELID1 pseudogene 5 pseudogene pseudogene Approved 1q32.2 01q32.2 2020-01-08 2020-01-08 388734 ENSG00000226986 NG_005180 +HGNC:54771 PRELID1P6 PRELID1 pseudogene 6 pseudogene pseudogene Approved 2p15 02p15 2020-01-08 2020-01-08 388955 ENSG00000228305 NG_022937 +HGNC:54772 PRELID1P7 PRELID1 pseudogene 7 pseudogene pseudogene Approved 1q23.3 01q23.3 2020-01-08 2020-01-08 2020-01-08 2020-01-08 116435286 ENSG00000230748 NG_070717 +HGNC:28306 PRELID2 PRELI domain containing 2 protein-coding gene gene with protein product Approved 5q32 05q32 "MGC21644|FLJ38376" PRELI domain containing 1295 2007-02-20 2019-03-01 153768 ENSG00000186314 OTTHUMG00000163384 uc063ihc.1 AK095695 NM_182960 "CCDS34262|CCDS43377|CCDS34261" Q8N945 19847657 MGI:1924869 RGD:1584707 HGNC:28306 "ENST00000683046.1|NM_205846.3" +HGNC:43892 PRELID2P1 PRELI domain containing 2 pseudogene 1 pseudogene pseudogene Approved 12q15 12q15 2012-04-23 2012-04-23 102606462 ENSG00000257336 OTTHUMG00000169302 NG_033861 PGOHUM00000239514 HGNC:43892 +HGNC:24639 PRELID3A PRELI domain containing 3A protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "HFL-EDDG1|FLJ31484" erythroid differentiation and denucleation factor 1 "C18orf43|SLMO1" "chromosome 18 open reading frame 43|slowmo homolog 1 (Drosophila)" PRELI domain containing 1295 2004-06-18 2015-08-14 2015-08-14 2015-08-14 10650 ENSG00000141391 OTTHUMG00000131694 AK056046 NM_006553 "CCDS77154|CCDS11860" Q96N28 MGI:2442865 RGD:1582858 616545 HGNC:24639 "ENST00000440960.6|NM_001142405.2" +HGNC:15892 PRELID3B PRELI domain containing 3B protein-coding gene gene with protein product Approved 20q13.32 20q13.32 dJ543J19.5 "C20orf45|SLMO2" "chromosome 20 open reading frame 45|slowmo homolog 2 (Drosophila)" PRELI domain containing 1295 2001-06-21 2015-08-14 2015-08-14 2015-08-14 51012 ENSG00000101166 OTTHUMG00000032856 AF151865 NM_016045 "CCDS58783|CCDS42893" Q9Y3B1 MGI:1913640 RGD:1594395 HGNC:15892 "ENST00000355937.9|NM_016045.3" +HGNC:49063 PRELID3BP1 PRELI domain containing 3B pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 SLMO2P1 "slowmo homolog 2 (Drosophila) pseudogene 1|SLMO2 pseudogene 1" 2013-08-20 2015-08-14 2015-08-14 2015-08-14 100129664 ENSG00000226226 OTTHUMG00000037349 NG_030211 PGOHUM00000296776 HGNC:49063 +HGNC:49064 PRELID3BP2 PRELI domain containing 3B pseudogene 2 pseudogene pseudogene Approved 13q14.3 13q14.3 SLMO2P2 "slowmo homolog 2 (Drosophila) pseudogene 2|SLMO2 pseudogene 2" 2013-08-20 2015-08-14 2015-08-14 2015-08-14 106481667 ENSG00000271242 OTTHUMG00000184860 NG_042929 PGOHUM00000292156 HGNC:49064 +HGNC:49065 PRELID3BP3 PRELI domain containing 3B pseudogene 3 pseudogene pseudogene Approved 17q23.2 17q23.2 SLMO2P3 "slowmo homolog 2 (Drosophila) pseudogene 3|SLMO2 pseudogene 3" 2013-08-20 2015-08-14 2015-08-14 2015-08-14 100128712 ENSG00000264907 OTTHUMG00000179194 NG_022473 PGOHUM00000294511 HGNC:49065 +HGNC:49066 PRELID3BP4 PRELI domain containing 3B pseudogene 4 pseudogene pseudogene Approved 5p12 05p12 2015-08-14 2015-08-14 100420275 ENSG00000251163 OTTHUMG00000162136 NG_024592 PGOHUM00000300570 HGNC:49066 +HGNC:49067 PRELID3BP5 PRELI domain containing 3B pseudogene 5 pseudogene pseudogene Approved 5p12 05p12 2015-08-14 2020-04-06 106480242 ENSG00000251656 OTTHUMG00000162138 NG_043827 PGOHUM00000300571 HGNC:49067 +HGNC:49068 PRELID3BP6 PRELI domain containing 3B pseudogene 6 pseudogene pseudogene Approved 5p12 05p12 2015-08-14 2015-08-14 100132940 ENSG00000249516 OTTHUMG00000162134 NG_030077 PGOHUM00000300936 HGNC:49068 +HGNC:49069 PRELID3BP7 PRELI domain containing 3B pseudogene 7 pseudogene pseudogene Approved 5p12 05p12 2015-08-14 2015-08-14 730974 ENSG00000250711 OTTHUMG00000162135 NG_030078 PGOHUM00000300937 HGNC:49069 +HGNC:49070 PRELID3BP8 PRELI domain containing 3B pseudogene 8 pseudogene pseudogene Approved 5q23.1 05q23.1 2015-08-14 2020-04-06 106480243 ENSG00000270741 OTTHUMG00000184307 NG_043834 PGOHUM00000300731 HGNC:49070 +HGNC:49071 PRELID3BP9 PRELI domain containing 3B pseudogene 9 pseudogene pseudogene Approved 5q32 05q32 2015-08-14 2015-08-14 100420277 NG_033871 PGOHUM00000301158 HGNC:49071 +HGNC:49072 PRELID3BP10 PRELI domain containing 3B pseudogene 10 pseudogene pseudogene Approved 7q31.33 07q31.33 2015-08-14 2015-08-14 646873 ENSG00000236105 OTTHUMG00000034030 NG_022572 PGOHUM00000302922 HGNC:49072 +HGNC:49073 PRELID3BP11 PRELI domain containing 3B pseudogene 11 pseudogene pseudogene Approved 9p24.1 09p24.1 SLMO2P11 SLMO2 pseudogene 11 2014-02-13 2015-08-14 2015-08-14 2015-08-14 102723314 ENSG00000231108 OTTHUMG00000019535 PGOHUM00000303725 HGNC:49073 +HGNC:9357 PRELP proline and arginine rich end leucine rich repeat protein protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "SLRR2A|prolargin" prolargin proteoglycan proline arginine-rich end leucine-rich repeat protein Small leucine rich repeat proteoglycans 573 1996-09-24 2016-06-06 2016-10-05 5549 ENSG00000188783 OTTHUMG00000035911 uc001gzs.4 BC032498 NM_002725 CCDS1438 P51888 7592739 MGI:2151110 RGD:620226 601914 HGNC:9357 "ENST00000343110.3|NM_002725.4" +HGNC:9358 PREP prolyl endopeptidase protein-coding gene gene with protein product Approved 6q21 06q21 prolyl oligopeptidase 1996-03-12 2016-10-05 5550 ENSG00000085377 OTTHUMG00000015297 uc003prc.4 NM_002726 CCDS5053 P48147 7959018 MGI:1270863 RGD:620841 600400 objectId:2395 3.4.21.26 HGNC:9358 "ENST00000652536.2|NM_002726.5" +HGNC:30228 PREPL prolyl endopeptidase like protein-coding gene gene with protein product Approved 2p21 02p21 KIAA0436 prolyl endopeptidase-like 2005-02-25 2018-01-05 2018-01-05 9581 ENSG00000138078 OTTHUMG00000152791 uc010fax.4 AB007896 NM_006036 "CCDS42676|CCDS33190|CCDS54353|CCDS42675" Q4J6C6 "11524703|24610330" MGI:2441932 RGD:1310143 609557 165929 S09.015 objectId:2870 HGNC:30228 "ENST00000409411.6|NM_001171613.2" HGNC:30228 +HGNC:32594 PREX1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "KIAA1415|P-REX1" PIP3 dependent Rac exchange factor 1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 "Pleckstrin homology domain containing|Dbl family Rho GEFs|PDZ domain containing" "682|722|1220" 2008-09-15 2016-04-06 2016-04-06 57580 ENSG00000124126 OTTHUMG00000032685 uc002xtw.2 AB037836 NM_020820 CCDS13410 Q8TCU6 "11955434|15545267|16301320" MGI:3040696 RGD:1306534 606905 HGNC:32594 "ENST00000371941.4|NM_020820.4" +HGNC:22950 PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 protein-coding gene gene with protein product Approved 8q13.2 08q13.2 "DEP.2|FLJ12987|P-REX2|PPP1R129" protein phosphatase 1, regulatory subunit 129 DEPDC2 "DEP domain containing 2|phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2" "Protein phosphatase 1 regulatory subunits|Dbl family Rho GEFs|PDZ domain containing" "694|722|1220" 2004-02-23 2008-09-15 2016-04-06 2016-10-05 80243 ENSG00000046889 OTTHUMG00000164402 uc003xxv.2 AK024079 NM_025170 CCDS6201 Q70Z35 "15304342|15304343" MGI:1923385 RGD:1307865 PREX2 612139 HGNC:22950 "ENST00000288368.5|NM_024870.4" +HGNC:9360 PRF1 perforin 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "PFP|P1|HPLH2" "Perforin|perforin 1 (preforming protein)" perforin 1 (pore forming protein) C2 domain containing 823 1989-02-23 2016-02-01 2021-04-13 5551 ENSG00000180644 OTTHUMG00000018412 uc009xqg.4 BC047695 NM_005041 CCDS7305 P14222 "1505959|2592021" MGI:97551 RGD:708463 "PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2)|http://structure.bmc.lu.se/idbase/PRF1base/|LRG_94|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_94.xml" PRF1 170280 117995 objectId:3100 HGNC:9360 "ENST00000441259.2|NM_001083116.3" HGNC:9360 +HGNC:9362 PRG2 proteoglycan 2, pro eosinophil major basic protein protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "MBP|BMPG|proMBP" eosinophil major basic protein proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) C-type lectin domain containing 1298 1993-09-29 2016-06-17 2016-06-17 5553 ENSG00000186652 OTTHUMG00000167027 uc001nkc.4 BC005929 NM_002728 "CCDS58133|CCDS7955" P13727 1565101 MGI:103294 RGD:69336 605601 470642 I63.001 HGNC:9362 "ENST00000311862.10|NM_002728.6" +HGNC:9363 PRG3 proteoglycan 3, pro eosinophil major basic protein 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "MBPH|MBP2" proteoglycan 3 C-type lectin domain containing 1298 2000-05-02 2016-06-17 2016-06-17 10394 ENSG00000156575 OTTHUMG00000167026 uc001njv.2 AF132209 NM_006093 CCDS7954 Q9Y2Y8 "10318872|11170744" MGI:1858200 RGD:1309904 606814 I63.001 HGNC:9363 "ENST00000287143.2|NM_006093.4" +HGNC:9364 PRG4 proteoglycan 4 protein-coding gene gene with protein product Approved 1q31.1 01q31.1 "JCAP|SZP|MSF|HAPO|bG174L6.2|FLJ32635" "lubricin|megakaryocyte stimulating factor|articular superficial zone protein|Jacobs camptodactyly-arthropathy-pericarditis syndrome|camptodactyly, arthropathy, coxa vara, pericarditis syndrome|bG174L6.2 (MSF: megakaryocyte stimulating factor )" CACP proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome) 2000-07-31 2004-11-15 2016-10-05 10216 ENSG00000116690 OTTHUMG00000035574 uc001gru.5 U70136 NM_005807 "CCDS44288|CCDS44287|CCDS1369|CCDS81411" Q92954 "10545950|9920774" MGI:1891344 RGD:1308976 604283 118000 HGNC:9364 "ENST00000445192.7|NM_005807.6" HGNC:9364 +HGNC:9366 PRH1 proline rich protein HaeIII subfamily 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 Pa Proline rich proteins 972 2001-06-22 2016-06-06 2016-06-06 5554 ENSG00000231887 OTTHUMG00000186774 uc058lgd.1 NM_006250 CCDS76533 P02810 3009472 RGD:619775 168730 HGNC:9366 "ENST00000543626.5|NM_001393989.1" +HGNC:9367 PRH2 proline rich protein HaeIII subfamily 2 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 Pr "parotid proline-rich protein|acidic salivary proline-rich protein, HaeIII type, 2" Proline rich proteins 972 2001-06-22 2016-06-06 2019-08-20 5555 ENSG00000134551 OTTHUMG00000168556 uc009zhr.4 NM_001110213 CCDS8636 P02810 3009472 "MGI:1927478|MGI:3645847" RGD:3413 168790 HGNC:9367 "ENST00000396400.4|NM_001110213.1" +HGNC:17019 PRICKLE1 prickle planar cell polarity protein 1 protein-coding gene gene with protein product Approved 12q12 12q12 "FLJ31937|EPM1B|RILP" REST/NRSF interacting LIM domain protein "prickle-like 1 (Drosophila)|prickle homolog 1 (Drosophila)" "Prickle planar cell polarity proteins|LIM domain containing" "1184|1218" 2003-02-10 2016-01-15 2021-05-26 144165 ENSG00000139174 OTTHUMG00000169443 uc001rnm.4 AK056499 NM_001144881 CCDS8742 Q96MT3 "12525887|18976727" MGI:1916034 RGD:735090 608500 169957 HGNC:17019 "ENST00000345127.9|NM_153026.3" HGNC:17019 +HGNC:20340 PRICKLE2 prickle planar cell polarity protein 2 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 DKFZp686D143 "prickle-like 2 (Drosophila)|prickle homolog 2 (Drosophila)" "Prickle planar cell polarity proteins|LIM domain containing" "1184|1218" 2003-02-10 2016-01-15 2016-10-05 166336 ENSG00000163637 OTTHUMG00000158789 uc003dmf.4 AK127839 NM_198859 CCDS2902 Q7Z3G6 12525887 MGI:1925144 RGD:1306723 608501 403958 HGNC:20340 "ENST00000638394.2|NM_198859.4" +HGNC:40916 PRICKLE2-AS1 PRICKLE2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 PRICKLE2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100652759 ENSG00000241572 OTTHUMG00000158793 uc031sak.1 NR_045697 PRICKLE2-AS1 HGNC:40916 +HGNC:40917 PRICKLE2-AS2 PRICKLE2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 PRICKLE2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874242 ENSG00000241101 OTTHUMG00000158792 uc031sal.2 NR_046701 PRICKLE2-AS2 HGNC:40917 +HGNC:40918 PRICKLE2-AS3 PRICKLE2 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 PRICKLE2 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-18 100874243 ENSG00000226017 OTTHUMG00000158795 uc031sam.2 NR_046702 PRICKLE2-AS3 HGNC:40918 +HGNC:52829 PRICKLE2-DT PRICKLE2 divergent transcript non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 Divergent transcripts 1990 2019-05-17 2019-05-17 101929316 ENSG00000244564 OTTHUMG00000158709 XR_245234 HGNC:52829 +HGNC:6645 PRICKLE3 prickle planar cell polarity protein 3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 LMO6 "LIM domain only 6|prickle homolog 3 (Drosophila)" "Prickle planar cell polarity proteins|LIM domain containing" "1184|1218" 1997-04-21 2007-09-18 2016-01-15 2020-04-02 4007 ENSG00000012211 OTTHUMG00000024134 uc004dmy.2 BC016856 NM_006150 "CCDS78481|CCDS14320" O43900 9344658 MGI:1859635 RGD:1359685 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRICKLE3 300111 HGNC:6645 "ENST00000599218.6|NM_006150.5" +HGNC:16805 PRICKLE4 prickle planar cell polarity protein 4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "OEBT|DKFZp761H221" overexpressed breast tumour protein C6orf49 "chromosome 6 open reading frame 49|prickle homolog 4 (Drosophila)" "Prickle planar cell polarity proteins|LIM domain containing" "1184|1218" 2002-12-19 2007-09-18 2016-01-15 2016-01-15 29964 ENSG00000278224 OTTHUMG00000188149 uc011duf.2 AF216754 NM_013397 CCDS34449 Q2TBC4 15702247 MGI:2685785 RGD:1563979 611389 HGNC:16805 "ENST00000458694.6|NM_013397.6" +HGNC:9369 PRIM1 DNA primase subunit 1 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "primase, DNA, polypeptide 1 (49kDa)|primase (DNA) subunit 1" 1990-07-26 2017-08-08 2017-08-08 5557 ENSG00000198056 OTTHUMG00000170034 uc001smd.4 BC005266 NM_000946 CCDS44926 P49642 8530050 MGI:97757 RGD:621380 176635 HGNC:9369 "ENST00000338193.11|NM_000946.3" +HGNC:9370 PRIM2 DNA primase subunit 2 protein-coding gene gene with protein product Approved 6p11.2 06p11.2 PRIM2A "primase, polypeptide 2A (58kD)|primase, polypeptide 2A, 58kDa|primase, DNA, polypeptide 2 (58kDa)|primase (DNA) subunit 2" MicroRNA protein coding host genes 1691 1990-07-26 2007-06-19 2017-08-08 2017-08-08 5558 ENSG00000146143 OTTHUMG00000016190 uc032wzb.2 NM_000947 "CCDS75476|CCDS75477" P49643 "8530050|20675616" MGI:97758 RGD:631433 176636 HGNC:9370 "ENST00000615550.5|NM_000947.5" +HGNC:55759 PRIM2BP primase 2B, pseudogene pseudogene pseudogene Approved 6q11.1 06q11.1 2021-07-21 2021-07-21 100996481 ENSG00000283453 NG_034112 PGOHUM00000301828 +HGNC:18319 PRIMA1 proline rich membrane anchor 1 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 PRIMA membrane anchor of acetylcholinesterase 2002-04-26 2021-05-26 145270 ENSG00000175785 OTTHUMG00000141313 uc001ybw.2 NM_178013 CCDS9912 Q86XR5 11804574 MGI:1926097 RGD:1583978 613851 HGNC:18319 "ENST00000393140.6|NM_178013.4" +HGNC:26575 PRIMPOL primase and DNA directed polymerase protein-coding gene gene with protein product Approved 4q35.1 04q35.1 FLJ33167 CCDC111 "coiled-coil domain containing 111|primase and polymerase (DNA-directed)" DNA polymerases 535 2006-05-22 2013-09-27 2015-11-06 2019-03-01 201973 ENSG00000164306 OTTHUMG00000160495 AK057729 NM_152683 "CCDS3837|CCDS75211|CCDS75212" Q96LW4 "24207056|24126761" MGI:3603756 RGD:1562119 615421 HGNC:26575 "ENST00000314970.11|NM_152683.4" +HGNC:34235 PRINS psoriasis associated non-protein coding RNA induced by stress non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 NCRNA00074 non-protein coding RNA 74 psoriasis associated RNA induced by stress (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2008-06-05 2012-08-16 2017-01-27 100169750 uc057sha.1 AK022045 NR_023388 "15855153|20377629|21750967" PRINS PRINS +HGNC:9376 PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 AMPKa1 AMPK, alpha, 1 protein kinase, AMP-activated, alpha 1 catalytic subunit 1997-05-09 2016-01-27 2016-01-27 5562 ENSG00000132356 OTTHUMG00000162269 uc003jmc.4 NM_006251 "CCDS3933|CCDS3932" Q13131 8557660 MGI:2145955 RGD:3387 602739 objectId:1541 HGNC:9376 "ENST00000397128.7|NM_006251.6" +HGNC:9377 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 protein-coding gene gene with protein product Approved 1p32.2 01p32.2 "AMPK|AMPKa2" PRKAA protein kinase, AMP-activated, alpha 2 catalytic subunit 1995-12-12 2016-01-27 2016-10-05 5563 ENSG00000162409 OTTHUMG00000008282 uc001cyk.5 BC069823 NM_006252 CCDS605 P54646 7959015 MGI:1336173 RGD:620893 600497 objectId:1542 HGNC:9377 "ENST00000371244.9|NM_006252.4" +HGNC:9378 PRKAB1 protein kinase AMP-activated non-catalytic subunit beta 1 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 AMPK beta 1 protein kinase, AMP-activated, beta 1 non-catalytic subunit 1997-05-09 2016-01-27 2016-10-05 5564 ENSG00000111725 OTTHUMG00000168954 uc001txg.4 BC001823 NM_006253 CCDS9191 Q9Y478 8557660 MGI:1336167 RGD:71057 602740 objectId:1543 HGNC:9378 "ENST00000229328.10|NM_006253.5" +HGNC:9379 PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 AMPK beta 2 protein kinase, AMP-activated, beta 2 non-catalytic subunit 1997-05-09 2016-01-27 2016-10-05 5565 ENSG00000131791 OTTHUMG00000014032 uc001epe.5 BC053610 NM_005399 CCDS925 O43741 8557660 MGI:1336185 RGD:620905 602741 470910 objectId:1544 HGNC:9379 "ENST00000254101.4|NM_005399.5" +HGNC:9380 PRKACA protein kinase cAMP-activated catalytic subunit alpha protein-coding gene gene with protein product Approved 19p13.12 19p13.12 PKACa "protein kinase, cAMP-dependent, catalytic, alpha|protein kinase, cAMP-dependent, alpha catalytic subunit" AGC family kinases 1625 2001-06-22 2016-01-27 2019-08-21 5566 ENSG00000072062 OTTHUMG00000182051 uc002myc.4 NM_002730 "CCDS12305|CCDS12304" P17612 8884279 MGI:97592 RGD:3389 PRKACA 601639 404135 objectId:1476 2.7.11.1 HGNC:9380 "ENST00000308677.9|NM_002730.4" +HGNC:9381 PRKACB protein kinase cAMP-activated catalytic subunit beta protein-coding gene gene with protein product Approved 1p31.1 01p31.1 PKACb "protein kinase, cAMP-dependent, catalytic, beta|protein kinase, cAMP-dependent, beta catalytic subunit" AGC family kinases 1625 2001-06-22 2016-01-27 2016-10-05 5567 ENSG00000142875 OTTHUMG00000009975 uc001djl.4 BC035058 NM_182948 "CCDS72812|CCDS55611|CCDS72815|CCDS72814|CCDS55610|CCDS691|CCDS72816|CCDS55609|CCDS692|CCDS693|CCDS72813" P22694 MGI:97594 RGD:1310574 176892 objectId:1477 2.7.11.1 HGNC:9381 "ENST00000370685.7|NM_182948.4" +HGNC:55245 PRKACB-DT PRKACB divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 Divergent transcripts 1990 2020-09-17 2020-09-17 118597836 ENSG00000271576 +HGNC:9382 PRKACG protein kinase cAMP-activated catalytic subunit gamma protein-coding gene gene with protein product Approved 9q21.11 09q21.11 PKACg "protein kinase, cAMP-dependent, catalytic, gamma|protein kinase, cAMP-dependent, gamma catalytic subunit" AGC family kinases 1625 2001-06-22 2016-01-27 2021-05-26 5568 ENSG00000165059 OTTHUMG00000019974 uc004agy.4 M34182 NM_002732 CCDS6625 P22612 "2342480|9598317" LRG_1004|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1004.xml 176893 446842 objectId:1478 2.7.11.1 HGNC:9382 "ENST00000377276.5|NM_002732.4" HGNC:9382 +HGNC:9385 PRKAG1 protein kinase AMP-activated non-catalytic subunit gamma 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 protein kinase, AMP-activated, gamma 1 non-catalytic subunit 1997-05-09 2016-01-27 2016-01-27 5571 ENSG00000181929 OTTHUMG00000170406 uc001rsy.4 U42412 NM_002733 "CCDS8777|CCDS55825|CCDS55824" P54619 "8557660|8621499" MGI:108411 RGD:3388 602742 objectId:1545 HGNC:9385 "ENST00000548065.7|NM_002733.5" +HGNC:9386 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "AAKG|AAKG2|H91620p|WPWS|CMH6" AMPK gamma2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 1997-05-09 2016-01-27 2021-05-26 51422 ENSG00000106617 OTTHUMG00000157324 uc003wkk.4 AF087875 NM_016203 "CCDS87567|CCDS5928|CCDS43683|CCDS47752" Q9UGJ0 "8557660|8621499" MGI:1336153 RGD:727782 LRG_430|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_430.xml 602743 118006 objectId:1546 HGNC:9386 "ENST00000287878.9|NM_016203.4" HGNC:9386 +HGNC:40468 PRKAG2-AS1 PRKAG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 PRKAG2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-07-03 2012-08-15 2014-11-19 100505483 ENSG00000239911 OTTHUMG00000157323 uc003wko.3 BC131560 NR_038926 PRKAG2-AS1 HGNC:40468 +HGNC:40467 PRKAG2-AS2 PRKAG2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 Antisense RNAs 1987 2022-01-10 2022-01-10 644090 ENSG00000242048 OTTHUMG00000157325 NR_171033 +HGNC:9387 PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 protein-coding gene gene with protein product Approved 2q35 02q35 protein kinase, AMP-activated, gamma 3 non-catalytic subunit 2000-07-31 2016-01-27 2016-01-27 53632 ENSG00000115592 OTTHUMG00000133078 uc002vjb.2 AF214519 NM_017431 CCDS2424 Q9UGI9 10818001 MGI:1891343 RGD:1308698 604976 objectId:1547 HGNC:9387 +HGNC:9388 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha protein-coding gene gene with protein product Approved 17q24.2 17q24.2 CNC1 Carney complex type 1 "PRKAR1|TSE1" "tissue specific extinguisher 1|protein kinase, cAMP-dependent, regulatory, type I, alpha|protein kinase, cAMP-dependent, regulatory subunit type I alpha" 1988-05-11 2016-01-27 2021-04-13 5573 ENSG00000108946 OTTHUMG00000180128 uc002jhh.5 NM_001276289 "CCDS62307|CCDS11678" P10644 "3479018|10973256" MGI:104878 RGD:3391 LRG_514|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_514.xml PRKAR1A 188830 118010 objectId:1472 2.7.11.1 HGNC:9388 "ENST00000589228.6|NM_002734.5" HGNC:9388 +HGNC:9389 PRKAR1AP1 protein kinase cAMP-dependent type I regulatory subunit alpha pseudogene 1 pseudogene pseudogene Approved 1p22.1 01p22.1 PRKAR1AP "protein kinase, cAMP-dependent, regulatory, type I, alpha pseudogene|protein kinase, cAMP-dependent, regulatory subunit type I alpha pseudogene" 1993-04-30 2016-01-27 2016-01-27 2016-01-27 5574 ENSG00000233401 OTTHUMG00000010291 L20252 NG_003073 8468054 PGOHUM00000244795 HGNC:9389 +HGNC:9390 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "protein kinase, cAMP-dependent, regulatory, type I, beta|protein kinase, cAMP-dependent, regulatory subunit type I beta" 1991-07-17 2016-01-27 2016-01-27 5575 ENSG00000188191 OTTHUMG00000151411 uc021zyj.1 M65066 NM_001164758 CCDS34579 P31321 "1358799|3479018" MGI:97759 RGD:3392 176911 423011 objectId:1473 2.7.11.1 HGNC:9390 "ENST00000537384.6|NM_001164760.2" HGNC:9390 +HGNC:40470 PRKAR1B-AS1 PRKAR1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Antisense RNAs 1987 2019-10-03 2019-10-03 101926963 ENSG00000237181 OTTHUMG00000151414 NR_110054 HGNC:40470 +HGNC:40469 PRKAR1B-AS2 PRKAR1B antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Antisense RNAs 1987 2019-10-03 2021-03-15 101927000 ENSG00000229380 OTTHUMG00000151415 NR_132384 33668685 HGNC:40469 +HGNC:9391 PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha protein-coding gene gene with protein product Approved 3p21.31 03p21.31 PRKAR2 "protein kinase, cAMP-dependent, regulatory, type II, alpha|protein kinase, cAMP-dependent, regulatory subunit type II alpha" 1988-07-18 2016-01-27 2016-10-05 5576 ENSG00000114302 OTTHUMG00000133540 uc003cux.2 NM_001321982 "CCDS2778|CCDS82771" P13861 9676433 MGI:108025 RGD:3393 176910 objectId:1474 2.7.11.1 HGNC:9391 "ENST00000265563.13|NM_004157.4" +HGNC:40471 PRKAR2A-AS1 PRKAR2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 PRKAR2A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100506637 ENSG00000224424 OTTHUMG00000156671 uc062jlz.1 NR_109996 PRKAR2A-AS1 HGNC:40471 +HGNC:9392 PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta protein-coding gene gene with protein product Approved 7q22.3 07q22.3 PRKAR2 "protein kinase, cAMP-dependent, regulatory, type II, beta|protein kinase, cAMP-dependent, regulatory subunit type II beta" 1991-07-17 2016-01-27 2016-01-27 5577 ENSG00000005249 OTTHUMG00000137418 uc003vdx.4 NM_002736 CCDS5740 P31323 1358799 MGI:97760 RGD:3394 176912 objectId:1475 2.7.11.1 HGNC:9392 "ENST00000265717.5|NM_002736.3" +HGNC:40472 PRKAR2B-AS1 PRKAR2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 Antisense RNAs 1987 2019-10-03 2019-10-03 105375441 ENSG00000243193 OTTHUMG00000157643 XR_007060469 HGNC:40472 +HGNC:9393 PRKCA protein kinase C alpha protein-coding gene gene with protein product Approved 17q24.2 17q24.2 PKCα PKCA protein kinase C, alpha "C2 domain containing protein kinases|AGC family kinases|MicroRNA protein coding host genes" "835|1625|1691" 1991-08-02 2016-01-27 2018-07-11 5578 ENSG00000154229 OTTHUMG00000179533 uc002jfp.2 NM_002737 CCDS11664 P17252 MGI:97595 RGD:3395 176960 objectId:1482 2.7.11.1 HGNC:9393 "ENST00000413366.8|NM_002737.3" +HGNC:51347 PRKCA-AS1 PRKCA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q24.2 17q24.2 Antisense RNAs 1987 2014-10-10 2014-10-10 101928001 ENSG00000264630 OTTHUMG00000179537 BC033554 NR_110822 PRKCA-AS1 HGNC:51347 +HGNC:9395 PRKCB protein kinase C beta protein-coding gene gene with protein product Approved 16p12.2-p12.1 16p12.2-p12.1 PKCβ "PRKCB2|PKCB|PRKCB1" "protein kinase C, beta 1|protein kinase C, beta" "C2 domain containing protein kinases|AGC family kinases|MicroRNA protein coding host genes" "835|1625|1691" 1991-08-02 2008-08-18 2016-01-27 2018-07-11 5579 ENSG00000166501 OTTHUMG00000131615 uc002dmd.4 M13975 NM_212535 "CCDS10618|CCDS10619" P05771 3658678 MGI:97596 RGD:3396 176970 objectId:1483 2.7.11.1 HGNC:9395 "ENST00000643927.1|NM_002738.7" +HGNC:9399 PRKCD protein kinase C delta protein-coding gene gene with protein product Approved 3p21.1 03p21.1 protein kinase C, delta "C2 domain containing protein kinases|AGC family kinases" "835|1625" 1991-08-06 2016-01-27 2021-04-13 5580 ENSG00000163932 OTTHUMG00000133659 uc003dgm.4 NM_001316327 CCDS2870 Q05655 8188219 MGI:97598 RGD:67383 LRG_1327|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1327.xml 176977 332077 objectId:1485 2.7.11.1 HGNC:9399 "ENST00000330452.8|NM_006254.4" HGNC:9399 +HGNC:9401 PRKCE protein kinase C epsilon protein-coding gene gene with protein product Approved 2p21 02p21 protein kinase C, epsilon "C2 domain containing protein kinases|AGC family kinases" "835|1625" 1991-08-06 2016-01-27 2016-01-27 5581 ENSG00000171132 OTTHUMG00000128817 uc002rut.4 NM_005400 CCDS1824 Q02156 "1382605|7877991" MGI:97599 RGD:61925 176975 objectId:1486 2.7.11.1 HGNC:9401 "ENST00000306156.8|NM_005400.3" +HGNC:40474 PRKCE-AS1 PRKCE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Antisense RNAs 1987 2019-10-03 2019-10-03 105374580 ENSG00000228481 OTTHUMG00000151675 XR_940049 HGNC:40474 +HGNC:9402 PRKCG protein kinase C gamma protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "PKCC|MGC57564|PKCγ" PKC-gamma "PKCG|SCA14" protein kinase C, gamma C2 domain containing protein kinases 835 1991-08-02 2016-01-27 2021-04-13 5582 ENSG00000126583 OTTHUMG00000064846 uc002qcq.2 M13977 NM_002739 CCDS12867 P05129 "8432525|3755548" MGI:97597 RGD:3397 "Mutations of the Protein Kinase C γ|http://www.retina-international.org/files/sci-news/prkcgmut.htm|LRG_669|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_669.xml" 176980 118014 objectId:1484 2.7.11.1 HGNC:9402 "ENST00000263431.4|NM_002739.5" HGNC:9402 +HGNC:9403 PRKCH protein kinase C eta protein-coding gene gene with protein product Approved 14q23.1 14q23.1 "PKC-L|PKCL" PRKCL protein kinase C, eta "C2 domain containing protein kinases|AGC family kinases" "835|1625" 1992-06-26 2016-01-27 2016-01-27 5583 ENSG00000027075 OTTHUMG00000152341 uc001xfn.4 M55284 NM_006255 CCDS9752 P24723 "1986216|1545821" MGI:97600 RGD:621888 605437 objectId:1487 2.7.11.1 HGNC:9403 "ENST00000332981.11|NM_006255.5" +HGNC:55588 PRKCH-AS1 PRKCH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.1 14q23.1 Antisense RNAs 1987 2021-04-28 2021-04-28 121233923 ENSG00000247287 XR_007064202 +HGNC:9404 PRKCI protein kinase C iota protein-coding gene gene with protein product Approved 3q26.2 03q26.2 PKCI DXS1179E protein kinase C, iota AGC family kinases 1625 1994-07-06 2016-01-27 2016-10-05 5584 ENSG00000163558 OTTHUMG00000150214 uc003fgs.3 NM_002740 CCDS3212 P41743 "7607695|11978974" MGI:99260 RGD:620961 600539 objectId:1490 2.7.11.13 HGNC:9404 "ENST00000295797.5|NM_002740.6" +HGNC:55035 PRKCIP1 PRKCI pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-05-28 2020-05-28 158948 ENSG00000237682 NG_001563 +HGNC:9410 PRKCQ protein kinase C theta protein-coding gene gene with protein product Approved 10p15.1 10p15.1 protein kinase C, theta "C2 domain containing protein kinases|AGC family kinases" "835|1625" 1992-12-14 2016-01-27 2016-10-05 5588 ENSG00000065675 OTTHUMG00000017623 uc001ijj.3 L07032 NM_006257 "CCDS55701|CCDS60482|CCDS7079" Q04759 8444877 MGI:97601 RGD:620968 600448 objectId:1488 2.7.11.1 HGNC:9410 "ENST00000263125.10|NM_006257.5" +HGNC:44689 PRKCQ-AS1 PRKCQ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 ENST00000414894.1 Antisense RNAs 1987 2012-12-04 2015-11-04 439949 ENSG00000237943 OTTHUMG00000017622 uc057rnq.1 NR_036502 26421281 PRKCQ-AS1 HGNC:44689 +HGNC:9411 PRKCSH protein kinase C substrate 80K-H protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "VASAP-60|GIIB" "advanced glycation end-product receptor 2|glucosidase II beta subunit|glucosidase 2 subunit beta|hepatocystin" "G19P1|PCLD|PLD1" polycystic liver disease "EF-hand domain containing|MRH domain containing " "863|1233" 1989-06-06 2016-04-27 5589 ENSG00000130175 OTTHUMG00000182029 uc010dyb.5 NM_001001329 "CCDS32911|CCDS74286|CCDS45977" P14314 12529853 MGI:107877 RGD:1309628 177060 118020 2.7.11.1 HGNC:9411 "ENST00000677123.1|NM_001289104.2" HGNC:9411 +HGNC:9412 PRKCZ protein kinase C zeta protein-coding gene gene with protein product Approved 1p36.33 01p36.33 PKC2 protein kinase C, zeta AGC family kinases 1625 1991-08-06 2016-01-27 2016-10-05 5590 ENSG00000067606 OTTHUMG00000001238 uc001aiq.3 BC014270 NM_002744 "CCDS37|CCDS41229|CCDS55563" Q05513 MGI:97602 RGD:3399 176982 objectId:1491 2.7.11.1 HGNC:9412 "ENST00000378567.8|NM_002744.6" +HGNC:40477 PRKCZ-AS1 PRKCZ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 RP11-181G12.2 Antisense RNAs 1987 2016-11-18 2016-11-18 100506504 ENSG00000182873 OTTHUMG00000001239 NR_146290 26857641 HGNC:40477 +HGNC:55824 PRKCZ-DT PRKCZ divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 Divergent transcripts 1990 2021-07-30 2021-07-30 105378591 ENSG00000226969 NR_135509 +HGNC:9407 PRKD1 protein kinase D1 protein-coding gene gene with protein product Approved 14q12 14q12 "PKCM|PKD|PKC-mu" PRKCM protein kinase C, mu Pleckstrin homology domain containing 682 1994-05-16 2004-10-30 2004-10-28 2016-10-05 5587 ENSG00000184304 OTTHUMG00000140203 uc001wqh.4 NM_002742 "CCDS9637|CCDS81796" Q15139 "8119958|10965134" MGI:99879 RGD:620964 605435 422348 objectId:1489 2.7.11.1 HGNC:9407 "ENST00000331968.11|NM_002742.3" HGNC:9407 +HGNC:17293 PRKD2 protein kinase D2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "PKD2|HSPC187|DKFZP586E0820" "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2004-10-28 2020-04-01 25865 ENSG00000105287 OTTHUMG00000183431 uc002pfi.4 AF151021 NM_016457 "CCDS59401|CCDS12689" Q9BZL6 "11042152|11062248" MGI:2141917 RGD:1308054 607074 objectId:2173 HGNC:17293 "ENST00000291281.9|NM_016457.5" +HGNC:9408 PRKD3 protein kinase D3 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 EPK2 PRKCN protein kinase C, nu Pleckstrin homology domain containing 682 1998-10-23 2004-10-30 2004-10-28 2016-10-05 23683 ENSG00000115825 OTTHUMG00000100961 uc002rqd.4 AB015982 NM_005813 CCDS1789 O94806 10231560 MGI:1922542 RGD:1310236 607077 objectId:2174 HGNC:9408 "ENST00000234179.8|NM_005813.6" +HGNC:55762 PRKD3-DT PRKD3 divergent transcript non-coding RNA RNA, long non-coding Approved 2p22.2 02p22.2 Divergent transcripts 1990 2021-07-22 2021-07-22 2021-07-22 2021-07-22 101929542 ENSG00000232028 XR_244985 +HGNC:9413 PRKDC protein kinase, DNA-activated, catalytic subunit protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "DNPK1|p350|DNAPK|XRCC7|DNA-PKcs|DNAPKc|DNA-PKC|p460" DNA-dependent protein kinase catalytic subunit "HYRC|HYRC1" protein kinase, DNA-activated, catalytic polypeptide Armadillo like helical domain containing 1492 1993-11-09 2018-06-18 2021-04-13 5591 ENSG00000253729 OTTHUMG00000164239 uc033bkh.1 NM_001081640 "CCDS75735|CCDS75734" P78527 7638222 MGI:104779 RGD:1308982 LRG_162|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_162.xml 600899 318754 objectId:2800 2.7.11.1 HGNC:9413 "ENST00000314191.7|NM_006904.7" HGNC:9413 +HGNC:9414 PRKG1 protein kinase cGMP-dependent 1 protein-coding gene gene with protein product Approved 10q11.23-q21.1 10q11.23-q21.1 "PGK|PKG|PKG1" "PRKGR1B|PRKG1B" protein kinase, cGMP-dependent, type I "AGC family kinases|MicroRNA protein coding host genes" "1625|1691" 1991-07-17 2018-04-18 2021-04-13 5592 ENSG00000185532 OTTHUMG00000018248 uc001jjm.4 NM_001098512 "CCDS44399|CCDS7244" Q13976 "2792381|1544322" MGI:108174 RGD:1587390 LRG_1135|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1135.xml 176894 363279 objectId:1492 2.7.11.1 HGNC:9414 "ENST00000373980.11|NM_006258.4" HGNC:9414 +HGNC:45029 PRKG1-AS1 PRKG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q21.1 10q21.1 RP11-573I11.2 Antisense RNAs 1987 2013-01-08 2016-12-21 100506939 ENSG00000236671 OTTHUMG00000018251 uc057thi.1 BC039504 NR_038277 27716329 PRKG1-AS1 HGNC:45029 +HGNC:9416 PRKG2 protein kinase cGMP-dependent 2 protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "cGKII|PRKGR2|PKG2" protein kinase, cGMP-dependent, type II AGC family kinases 1625 1997-01-09 2018-04-18 2018-04-18 5593 ENSG00000138669 OTTHUMG00000130296 uc003hmh.3 X94612 NM_006259 "CCDS64005|CCDS3589|CCDS75150" Q13237 7498513 MGI:108173 RGD:3401 601591 objectId:1493 2.7.11.1 HGNC:9416 "ENST00000264399.6|NM_006259.3" +HGNC:40478 PRKG2-AS1 PRKG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.21 04q21.21 Antisense RNAs 1987 2020-03-19 2020-03-19 101928942 ENSG00000251059 OTTHUMG00000160880 NR_125908 +HGNC:8607 PRKN parkin RBR E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 6q26 06q26 "PDJ|AR-JP|parkin" E3 ubiquitin ligase PARK2 "Parkinson disease (autosomal recessive, juvenile) 2, parkin|parkinson protein 2, E3 ubiquitin protein ligase (parkin)" RBR E3 ubiquitin ligases 1391 1997-08-18 2017-02-20 2013-10-03 2020-04-02 5071 ENSG00000185345 OTTHUMG00000015970 uc003qtx.5 NM_004562 "CCDS5283|CCDS5282|CCDS5281" O60260 "9560156|9570960" MGI:1355296 RGD:61797 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PARK2 602544 124080 HGNC:8607 "ENST00000366898.6|NM_004562.3" HGNC:8607 +HGNC:9438 PRKRA protein activator of interferon induced protein kinase EIF2AK2 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "PACT|RAX|HSD14|DYT16" protein activator of the interferon-induced protein kinase protein kinase, interferon-inducible double stranded RNA dependent activator 1999-12-07 2016-01-06 2016-01-06 8575 ENSG00000180228 OTTHUMG00000132576 uc002umf.3 AF072860 NM_003690 "CCDS46460|CCDS2279|CCDS46461" O75569 "9687506|10336432" MGI:1344375 RGD:1306707 603424 213048 HGNC:9438 "ENST00000325748.9|NM_003690.5" HGNC:9438 +HGNC:33447 PRKRAP1 protein activator of interferon induced protein kinase EIF2AK2 pseudogene 1 pseudogene pseudogene Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene 1 2007-05-01 2016-02-24 2016-02-24 731716 XR_015579 +HGNC:21894 PRKRIP1 PRKR interacting protein 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "C114|FLJ13902|KRBOX3" "likely ortholog of mouse C114 dsRNA-binding protein|KRAB box domain containing 3" PRKR interacting protein 1 (IL11 inducible) 2003-08-19 2017-08-04 2021-04-27 79706 ENSG00000128563 OTTHUMG00000157717 uc064gmw.1 AK023964 NM_024653 CCDS34714 Q9H875 12679338 MGI:1914051 RGD:1595708 617458 HGNC:21894 "ENST00000397912.3|NM_024653.4" +HGNC:9441 PRKX protein kinase X-linked protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 PKX1 AGC family kinases 1625 1995-11-22 2018-04-26 2020-04-02 5613 ENSG00000183943 OTTHUMG00000021087 uc010nde.4 NM_005044 CCDS14125 P51817 7633447 MGI:1309999 RGD:1564076 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRKX 300083 objectId:2175 2.7.11.1 HGNC:9441 "ENST00000262848.6|NM_005044.5" +HGNC:40479 PRKX-AS1 PRKX antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.33 Xp22.33 PRKX antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100873944 ENSG00000236188 OTTHUMG00000021086 uc033dpf.2 NR_046643 PRKX-AS1 HGNC:40479 +HGNC:9442 PRKXP1 PRKX pseudogene 1 pseudogene pseudogene Approved 15q26.3 15q26.3 protein kinase, X-linked, pseudogene 1 1997-01-16 2018-04-26 2018-04-26 441733 ENSG00000259205 OTTHUMG00000172351 Y10483 NR_073405 9154127 PGOHUM00000246940 HGNC:9442 +HGNC:9443 PRKXP2 PRKX pseudogene 2 pseudogene pseudogene Approved Xq13.1 Xq13.1 protein kinase, X-linked, pseudogene 2 1997-01-16 2018-04-26 2018-04-26 5615 NG_009809 HGNC:9443 +HGNC:9444 PRKY protein kinase Y-linked (pseudogene) pseudogene pseudogene Approved Yp11.2 Yp11.2 "PRKYP|PRKXP3" "protein kinase, Y-linked|protein kinase Y-linked, pseudogene" AGC family kinases 1625 1995-11-22 2018-04-30 2018-04-30 5616 ENSG00000099725 OTTHUMG00000035301 NR_028062 O43930 7633447 MGI:1309999 400008 PGOHUM00000258447 HGNC:9444 +HGNC:9445 PRL prolactin protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "Growth hormone family|Neuropeptides" "1175|1902" 1986-01-01 2015-09-07 5617 ENSG00000172179 OTTHUMG00000016111 uc003ndp.4 D00411 NM_000948 CCDS4548 P01236 MGI:97762 RGD:3403 176760 ligandId:5049 HGNC:9445 "ENST00000306482.2|NM_000948.6" +HGNC:17945 PRLH prolactin releasing hormone protein-coding gene gene with protein product Approved 2q37.3 02q37.3 PRH Neuropeptides 1902 2004-06-24 2015-08-25 51052 ENSG00000071677 OTTHUMG00000133296 uc010znl.2 AB015419 NM_015893 CCDS2519 P81277 9607765 MGI:3644668 RGD:628634 602663 ligandId:1873 HGNC:17945 "ENST00000165524.1|NM_015893.1" +HGNC:4464 PRLHR prolactin releasing hormone receptor protein-coding gene gene with protein product Approved 10q26.11 10q26.11 PrRPR GPR10 G protein-coupled receptor 10 Peptide receptors 220 1995-01-25 2005-11-24 2005-11-24 2016-10-05 2834 ENSG00000119973 OTTHUMG00000019136 uc001ldp.2 AB048946 NM_004248 CCDS7606 P49683 "8666380|15885496" MGI:2135956 RGD:71037 600895 objectId:337 HGNC:4464 "ENST00000239032.4|NM_004248.3" +HGNC:9446 PRLR prolactin receptor protein-coding gene gene with protein product Approved 5p13.2 05p13.2 1989-12-01 2016-10-05 5618 ENSG00000113494 OTTHUMG00000090789 uc032uqm.2 NM_000949 "CCDS56362|CCDS3909|CCDS56360|CCDS56358|CCDS56359|CCDS56361" P16471 MGI:97763 RGD:3407 176761 400642 objectId:1721 HGNC:9446 "ENST00000618457.5|NM_000949.7" HGNC:9446 +HGNC:9447 PRM1 protamine 1 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 CT94.1 cancer/testis antigen family 94, member 1 1986-01-01 2016-10-05 5619 ENSG00000175646 OTTHUMG00000090521 uc002dav.4 NM_002761 CCDS10547 P04553 MGI:97765 RGD:1583873 182880 HGNC:9447 "ENST00000312511.4|NM_002761.3" +HGNC:9448 PRM2 protamine 2 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 CT94.2 cancer/testis antigen family 94, member 2 1990-02-24 2015-09-07 5620 ENSG00000122304 OTTHUMG00000172317 uc002dau.2 NM_001286356 "CCDS42118|CCDS66944" P04554 16632464 MGI:97766 RGD:3409 182890 HGNC:9448 "ENST00000241808.9|NM_002762.4" +HGNC:13732 PRM3 protamine 3 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 2000-10-19 2016-10-05 58531 ENSG00000178257 OTTHUMG00000172316 uc002dat.3 Z46940 NM_021247 CCDS76821 Q9NNZ6 "8720108|9827065" MGI:106601 RGD:1587265 HGNC:13732 "ENST00000327157.4|NM_021247.3" +HGNC:5187 PRMT1 protein arginine methyltransferase 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "HCP1|ANM1" HRMT1L2 "HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2|HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)" "MicroRNA protein coding host genes|7BS protein arginine methyltranferases" "1691|2057" 1996-10-02 2006-02-16 2006-02-16 2017-12-15 3276 ENSG00000126457 OTTHUMG00000167568 uc002ppe.4 D66904 NM_001536 "CCDS74425|CCDS42592|CCDS46145" Q99873 9545638 MGI:107846 RGD:62020 602950 objectId:1252 2.1.1.319 HGNC:5187 "ENST00000454376.7|NM_001536.6" +HGNC:49611 PRMT1P1 protein arginine methyltransferase 1 pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 2014-01-24 2014-11-19 100420910 ENSG00000270706 OTTHUMG00000184564 NG_009821 PGOHUM00000258198 HGNC:49611 +HGNC:5186 PRMT2 protein arginine methyltransferase 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 MGC111373 HRMT1L1 "HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1|HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)" 7BS protein arginine methyltranferases 2057 1996-10-02 2006-02-16 2006-02-16 2017-12-15 3275 ENSG00000160310 OTTHUMG00000048806 uc002zjx.5 U80213 NM_001535 "CCDS13737|CCDS74806|CCDS56219|CCDS56220|CCDS68230|CCDS68231" P55345 9545638 MGI:1316652 RGD:1565519 601961 objectId:1253 2.1.1.319 HGNC:5186 "ENST00000355680.8|NM_206962.4" +HGNC:30163 PRMT3 protein arginine methyltransferase 3 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 HRMT1L3 HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae) 7BS protein arginine methyltranferases 2057 2004-06-18 2006-02-16 2006-02-16 2014-11-19 10196 ENSG00000185238 OTTHUMG00000166022 uc001mqb.4 AF059531 NM_005788 "CCDS7853|CCDS44554" O60678 9642256 MGI:1919224 RGD:620413 603190 objectId:1254 HGNC:30163 "ENST00000331079.11|NM_005788.4" +HGNC:10894 PRMT5 protein arginine methyltransferase 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 SKB1Hs "HRMT1L5|SKB1" "skb1 (S. pombe) homolog|SKB1 homolog (S. pombe)" 7BS protein arginine methyltranferases 2057 1999-06-18 2006-02-16 2006-02-16 2017-12-15 10419 ENSG00000100462 OTTHUMG00000028709 uc001whm.2 AF015913 NM_001039619 "CCDS41922|CCDS61394|CCDS61395|CCDS9579|CCDS61396" O14744 9843966 MGI:1351645 RGD:1309053 604045 objectId:1256 2.1.1.320 HGNC:10894 "ENST00000324366.13|NM_006109.5" +HGNC:40533 PRMT5-AS1 PRMT5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 PRMT5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-18 100505758 ENSG00000237054 OTTHUMG00000149898 uc058zlo.1 AK093277 NR_120599 PRMT5-AS1 HGNC:40533 +HGNC:55482 PRMT5-DT PRMT5 divergent transcript non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Divergent transcripts 1990 2021-03-11 2021-03-11 101926933 ENSG00000257285 NR_110002 +HGNC:32524 PRMT5P1 protein arginine methyltransferase 5 pseudogene 1 pseudogene pseudogene Approved 4q31.22 04q31.22 2014-01-24 2014-01-24 100420927 ENSG00000249004 OTTHUMG00000161356 NG_025173 PGOHUM00000261903 HGNC:32524 +HGNC:18241 PRMT6 protein arginine methyltransferase 6 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 FLJ10559 HRMT1L6 HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae) 7BS protein arginine methyltranferases 2057 2004-06-22 2006-02-16 2006-02-16 2016-10-05 55170 ENSG00000198890 OTTHUMG00000010964 uc010ous.4 AK001421 NM_018137 CCDS41360 Q96LA8 11724789 MGI:2139971 RGD:1304701 608274 objectId:1257 2.1.1.319 HGNC:18241 "ENST00000370078.2|NM_018137.3" +HGNC:25557 PRMT7 protein arginine methyltransferase 7 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ10640|KIAA1933" 7BS protein arginine methyltranferases 2057 2006-02-16 2021-05-26 54496 ENSG00000132600 OTTHUMG00000137556 uc059wfs.1 AK001502 NM_019023 "CCDS10866|CCDS54033" Q9NVM4 15044439 MGI:2384879 RGD:1304869 610087 466391 objectId:1258 HGNC:25557 "ENST00000441236.3|NM_019023.5" HGNC:25557 +HGNC:5188 PRMT8 protein arginine methyltransferase 8 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 "HRMT1L3|HRMT1L4" "HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)|HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)" 7BS protein arginine methyltranferases 2057 2000-08-01 2006-02-16 2006-02-16 2016-10-05 56341 ENSG00000111218 OTTHUMG00000128493 uc001qmf.5 AF263539 NM_019854 "CCDS58200|CCDS8521" Q9NR22 16051612 MGI:3043083 RGD:1587677 610086 objectId:1259 HGNC:5188 "ENST00000382622.4|NM_019854.5" +HGNC:25099 PRMT9 protein arginine methyltransferase 9 protein-coding gene gene with protein product Approved 4q31.23 04q31.23 FLJ46629 PRMT10 protein arginine methyltransferase 10 (putative) 7BS protein arginine methyltranferases 2057 2009-05-15 2014-01-24 2014-01-24 2021-05-26 90826 ENSG00000164169 OTTHUMG00000161361 BC004337 NM_001304458 CCDS3771 Q6P2P2 "17708529|19300908|25737013" MGI:2142651 RGD:1306157 616125 objectId:1261 HGNC:25099 "ENST00000322396.7|NM_138364.4" HGNC:25099 +HGNC:48942 PRNCR1 prostate cancer associated non-coding RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 PCAT8 prostate cancer associated transcript 8 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-07-18 2013-08-16 2013-08-16 2018-06-13 101867536 ENSG00000282961 OTTHUMG00000191472 AB458446 NR_109833 "20874843|23945587|24330491" 615452 prncr1 PRNCR1 HGNC:48942 +HGNC:15748 PRND prion like protein doppel protein-coding gene gene with protein product Approved 20p13 20p13 "DPL|dJ1068H6.4|DOPPEL|PrPLP" "prion-like protein doppel|downstream prion protein-like gene" prion protein 2 (dublet) 2001-05-30 2017-02-15 2017-02-15 23627 ENSG00000171864 OTTHUMG00000031789 uc002wkz.5 AF106918 NM_012409 CCDS13081 Q9UKY0 "10525406|10577243" MGI:1346999 RGD:1306618 604263 HGNC:15748 "ENST00000305817.3|NM_012409.4" +HGNC:9449 PRNP prion protein protein-coding gene gene with protein product Approved 20p13 20p13 "CD230|PRP|AltPrP" "Creutzfeldt-Jakob disease|Gerstmann-Strausler-Scheinker syndrome|fatal familial insomnia|p27-30" "PRIP|GSS|CJD" prion protein (p27-30) CD molecules 471 1986-01-01 2008-07-28 2015-08-25 5621 ENSG00000171867 OTTHUMG00000031786 uc021wae.3 M13899 NM_000311 CCDS13080 "F7VJQ1|P04156" MGI:97769 RGD:3410 Prion Protein/CJD database|http://www.mad-cow.org/~tom/prion_point_mutations.html 176640 118023 CD230 HGNC:9449 "ENST00000379440.9|NM_000311.5" HGNC:9449 +HGNC:18046 PRNT prion locus lncRNA, testis expressed non-coding RNA RNA, long non-coding Approved 20p13 20p13 M8 M8 protein prion protein (testis specific) Long non-coding RNAs with non-systematic symbols 1992 2002-09-17 2017-02-15 2017-02-15 149830 ENSG00000180259 OTTHUMG00000031785 uc002wlb.4 "AL137296|AJ427539" NR_024267 Q86SH4 "12514748|20206252" HGNC:18046 +HGNC:41906 PROB1 proline rich basic protein 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 C5orf65 chromosome 5 open reading frame 65 2011-08-15 2012-10-01 2016-06-06 2016-10-25 389333 ENSG00000228672 OTTHUMG00000185568 uc011czc.2 AK316483 NM_001161546 CCDS54909 E7EW31 MGI:2686460 RGD:1594845 HGNC:41906 "ENST00000434752.4|NM_001161546.2" +HGNC:9451 PROC protein C, inactivator of coagulation factors Va and VIIIa protein-coding gene gene with protein product Approved 2q14.3 02q14.3 prepro-protein C protein C (inactivator of coagulation factors Va and VIIIa) "Receptor ligands|Gla domain containing" "542|1250" 2001-06-22 2015-11-18 2021-04-13 5624 ENSG00000115718 OTTHUMG00000131528 uc002tok.4 X02750 NM_000312 CCDS2145 P04070 "2991887|2437584" MGI:97771 RGD:3411 "3d Protein C Mutations Database|http://www.itb.cnr.it/procmd/|LRG_599|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_599.xml" 612283 118030 S01.218 ligandId:4475 3.4.21.69 HGNC:9451 "ENST00000234071.8|NM_000312.4" HGNC:9451 +HGNC:28600 PROCA1 protein interacting with cyclin A1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 MGC39650 proline-rich cyclin A1-interacting protein 2009-04-20 2009-04-20 2014-11-19 147011 ENSG00000167525 OTTHUMG00000132682 uc002hca.2 BC029574 NM_152465 CCDS11239 Q8NCQ7 15159402 MGI:1918274 RGD:1561727 617376 HGNC:28600 "ENST00000682792.1|NM_001366301.1" +HGNC:9452 PROCR protein C receptor protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "EPCR|CCD41|CD201" protein C receptor, endothelial CD molecules 471 2000-06-26 2015-12-16 2021-04-13 10544 ENSG00000101000 OTTHUMG00000032323 uc284prb.1 L35545 NM_006404 CCDS13248 Q9UNN8 "7929370|10518938" MGI:104596 RGD:1305991 LRG_638|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_638.xml 600646 258949 CD201 HGNC:9452 "ENST00000216968.5|NM_006404.5" +HGNC:9453 PRODH proline dehydrogenase 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "HSPOX2|PRODH1|PIG6|PRODH2|TP53I6" proline oxidase proline dehydrogenase (proline oxidase ) 1996-12-12 2016-04-27 2016-10-05 5625 ENSG00000100033 OTTHUMG00000150163 uc002zok.5 AF010310 NM_016335 "CCDS56223|CCDS13754" O43272 "9385373|10192398" MGI:97770 RGD:1590932 606810 118032 1.5.5.2 HGNC:9453 "ENST00000357068.11|NM_016335.6" HGNC:9453 +HGNC:17325 PRODH2 proline dehydrogenase 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 HSPOX1 proline dehydrogenase (oxidase) 2 2002-01-03 2016-04-27 2017-01-16 58510 ENSG00000250799 OTTHUMG00000180688 uc002obx.1 U80018 NM_021232 CCDS12478 Q9UF12 MGI:1929093 RGD:1306761 616377 1.5.5.2 HGNC:17325 "ENST00000653904.2|NM_021232.2" HGNC:17325 +HGNC:18454 PROK1 prokineticin 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "PK1|PRK1|EGVEGF" "black mamba toxin-related protein|mambakine" Receptor ligands 542 2002-07-22 2016-10-05 84432 ENSG00000143125 OTTHUMG00000011569 uc001dzs.4 AF333024 NM_032414 CCDS825 P58294 11259612 MGI:2180370 RGD:620898 606233 ligandId:1866 HGNC:18454 "ENST00000271331.4|NM_032414.3" +HGNC:18455 PROK2 prokineticin 2 protein-coding gene gene with protein product Approved 3p13 03p13 "PK2|BV8|MIT1|KAL4" protein Bv8 homolog Receptor ligands 542 2002-07-22 2016-10-05 60675 ENSG00000163421 OTTHUMG00000158809 uc003doz.5 AF333025 NM_001126128 "CCDS46868|CCDS2916" Q9HC23 "11054548|11259612" MGI:1354178 RGD:620280 607002 118039 ligandId:1867 HGNC:18455 "ENST00000295619.4|NM_001126128.2" HGNC:18455 +HGNC:4524 PROKR1 prokineticin receptor 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "PKR1|ZAQ|GPR73a" GPR73 G protein-coupled receptor 73 Prokineticin receptors 216 1999-07-30 2006-02-15 2006-02-15 2016-10-05 10887 ENSG00000169618 OTTHUMG00000129567 uc010yqj.3 AF506287 NM_138964 CCDS1889 Q8TCW9 10760605 MGI:1929676 RGD:708443 607122 objectId:335 HGNC:4524 "ENST00000303786.5|NM_138964.4" +HGNC:15836 PROKR2 prokineticin receptor 2 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "GPR73b|PKR2|GPRg2|dJ680N4.3" "GPR73L1|KAL3" "G protein-coupled receptor 73-like 1|Kallmann syndrome 3 (autosomal dominant)" Prokineticin receptors 216 2001-09-17 2006-02-15 2006-02-15 2021-11-25 128674 ENSG00000101292 OTTHUMG00000031800 uc010zqw.3 AL121755 NM_144773 CCDS13089 Q8NFJ6 "11886876|17054399" MGI:2181363 RGD:708445 607123 118044 objectId:336 HGNC:15836 "ENST00000678254.1|NM_144773.4" HGNC:15836 +HGNC:9454 PROM1 prominin 1 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "AC133|CD133|RP41|CORD12" "PROML1|MCDR2|STGD4" "prominin (mouse)-like 1|macular dystrophy, retinal 2|Stargardt disease 4 (autosomal dominant)" CD molecules 471 1999-04-15 2003-03-28 2001-11-28 2020-04-02 8842 ENSG00000007062 OTTHUMG00000160180 uc062vja.1 AF027208 NM_006017 "CCDS47029|CCDS54746|CCDS54748|CCDS54747" O43490 11467842 MGI:1100886 RGD:69367 "Mutations of the Prominin (mouse)-like 1 gene (PROML1)|http://www.retina-international.org/files/sci-news/promlmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PROM1" 604365 159821 CD133 HGNC:9454 "ENST00000447510.7|NM_006017.3" HGNC:9454 +HGNC:20685 PROM2 prominin 2 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 2003-03-25 2015-08-25 150696 ENSG00000155066 OTTHUMG00000130393 uc002sui.4 AF245303 NM_144707 CCDS2012 Q8N271 12514187 MGI:2138997 RGD:621435 617160 HGNC:20685 "ENST00000317620.14|NM_001165978.3" +HGNC:9455 PROP1 PROP paired-like homeobox 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 prophet of Pit1, paired-like homeodomain transcription factor PRD class homeoboxes and pseudogenes 521 1998-02-02 2007-07-12 2021-05-26 5626 ENSG00000175325 OTTHUMG00000130887 uc003mif.1 AF076215 NM_006261 CCDS4430 O75360 9462743 MGI:109330 RGD:628759 601538 8504 118051 HGNC:9455 "ENST00000308304.2|NM_006261.5" HGNC:9455 +HGNC:19958 PRORP protein only RNase P catalytic subunit protein-coding gene gene with protein product Approved 14q13.2 14q13.2 MRPP3 "mitochondrial RNase P subunit 3|proteinaceous RNase P" KIAA0391 KIAA0391 "Mitochondrial RNase P complex|Pentatricopeptide repeat containing" "1534|1823" 2003-11-21 2019-04-12 2019-04-12 2019-04-12 9692 ENSG00000100890 OTTHUMG00000170997 uc001wsy.3 AB002389 NM_014672 "CCDS58312|CCDS32063|CCDS58314|CCDS58313" O15091 "9205841|18984158" MGI:1913382 RGD:1305089 609947 HGNC:19958 "ENST00000534898.9|NM_014672.4" +HGNC:34379 PRORSD1P prolyl-tRNA synthetase associated domain containing 1, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 "Prdxdd1|Ybakd1|ProX|ProXp-ala" YBak domain containing 1 "NCRNA00117|PRDXDD1P" "non-protein coding RNA 117|PrdX deacylase domain containing 1, pseudogene" 2008-09-12 2010-09-27 2010-09-28 2020-11-27 344405 ENSG00000162997 OTTHUMG00000176755 CR612843 NR_027258 A6NEY8 23210460 MGI:1915189 RGD:1308179 HGNC:34379 +HGNC:38732 PRORY proline rich Y-linked protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 CYorf17 chromosome Y open reading frame 17 2010-07-28 2014-05-22 2018-04-30 2018-04-30 100533178 ENSG00000183146 OTTHUMG00000042036 AK026367 NR_170372 CCDS65369 Q9H606 HGNC:38732 +HGNC:9456 PROS1 protein S protein-coding gene gene with protein product Approved 3q11.1 03q11.1 PROS protein S (alpha) Gla domain containing 1250 1986-01-01 2017-08-08 2021-05-26 5627 ENSG00000184500 OTTHUMG00000150354 uc003drb.5 NM_000313 CCDS2923 P07225 "214811|1833851|23958677" MGI:1095733 RGD:620971 "Protein S Deficiency: A database of Mutations|http://www.isth.org/|LRG_572|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_572.xml" 176880 118053 ligandId:5050 HGNC:9456 "ENST00000394236.9|NM_000313.4" HGNC:9456 +HGNC:9458 PROS2P protein S (beta) pseudogene pseudogene pseudogene Approved 3p11.1 03p11.1 "PROS2|PROSP" protein S 2 1989-05-10 2015-03-19 2015-03-19 2015-03-19 5628 ENSG00000189002 OTTHUMG00000159045 NG_001179 2148112 PGOHUM00000250250 HGNC:9458 +HGNC:20291 PROSER1 proline and serine rich 1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "bA50D16.2|FLJ12661" C13orf23 chromosome 13 open reading frame 23 2004-04-16 2011-08-09 2011-08-09 2016-10-05 80209 ENSG00000120685 OTTHUMG00000016764 uc001uwy.5 AK022723 NM_025138 CCDS9368 Q86XN7 MGI:1919933 RGD:1309403 HGNC:20291 "ENST00000352251.8|NM_025138.5" +HGNC:23728 PROSER2 proline and serine rich 2 protein-coding gene gene with protein product Approved 10p14 10p14 MGC35403 C10orf47 "chromosome 10 open reading frame 47|proline and serine-rich protein 2" 2003-12-08 2012-12-05 2014-02-19 2014-11-19 254427 ENSG00000148426 OTTHUMG00000017673 uc001ikx.3 BC017269 NM_153256 CCDS7085 Q86WR7 12477932 MGI:2442238 RGD:1586830 HGNC:23728 "ENST00000277570.10|NM_153256.4" +HGNC:27343 PROSER2-AS1 PROSER2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Antisense RNAs 1987 2012-12-05 2014-11-19 219731 ENSG00000225778 OTTHUMG00000017674 uc001iky.3 NR_038222 PROSER2-AS1 HGNC:27343 +HGNC:25204 PROSER3 proline and serine rich 3 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ30657 C19orf55 chromosome 19 open reading frame 55 2006-08-21 2014-05-30 2014-05-30 2014-11-19 148137 ENSG00000167595 OTTHUMG00000168103 AK055219 NM_144692 CCDS46056 Q2NL68 14702039 MGI:2681861 RGD:1565712 HGNC:25204 +HGNC:9459 PROX1 prospero homeobox 1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 prospero-related homeobox 1 PROS class homeoboxes 528 1998-05-18 2007-06-01 2016-10-05 5629 ENSG00000117707 OTTHUMG00000036946 uc057pjq.1 U44060 NM_002763 CCDS31021 Q92786 8812486 MGI:97772 RGD:1306890 601546 8505 470912 HGNC:9459 "ENST00000366958.9|NM_001270616.2" +HGNC:43656 PROX1-AS1 PROX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.3 01q32.3 PROX1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2015-08-03 100505832 ENSG00000230461 OTTHUMG00000036947 uc031psa.2 AK092251 NR_037850 PROX1-AS1 HGNC:43656 +HGNC:26715 PROX2 prospero homeobox 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ36749 PROS class homeoboxes 528 2007-02-15 2016-04-25 283571 ENSG00000119608 OTTHUMG00000171481 uc059dkf.1 NM_001080408 "CCDS45136|CCDS73663" Q3B8N5 MGI:1920672 RGD:1310315 615094 8632 HGNC:26715 "ENST00000556489.4|NM_001243007.2" +HGNC:9460 PROZ protein Z, vitamin K dependent plasma glycoprotein protein-coding gene gene with protein product Approved 13q34 13q34 PZ protein Z, vitamin K-dependent plasma glycoprotein Gla domain containing 1250 1999-06-03 2016-04-05 2021-04-13 8858 ENSG00000126231 OTTHUMG00000017376 uc001vta.3 M55670 NM_003891 "CCDS9531|CCDS58300" P22891 "2244898|2403355" MGI:1860488 RGD:1308666 LRG_573|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_573.xml 176895 391022 S01.979 HGNC:9460 "ENST00000375547.7|NM_003891.3" +HGNC:17348 PRPF3 pre-mRNA processing factor 3 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "Prp3|hPrp3|SNRNP90" RP18 "retinitis pigmentosa 18 (autosomal dominant)|PRP3 pre-mRNA processing factor 3 homolog (yeast)|PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)" U4/U6 small nuclear ribonucleoprotein 1502 2003-12-05 2013-06-10 2016-10-05 9129 ENSG00000117360 OTTHUMG00000012807 uc001eum.5 AF001947 NM_004698 CCDS951 O43395 MGI:1918017 RGD:1310555 607301 118056 HGNC:17348 "ENST00000324862.7|NM_004698.4" HGNC:17348 +HGNC:17349 PRPF4 pre-mRNA processing factor 4 protein-coding gene gene with protein product Approved 9q32 09q32 "Prp4p|HPRP4|HPRP4P|PRP4|SNRNP60" "PRP4/STK/WD splicing factor|U4/U6 small nuclear ribonucleoprotein Prp4" PRP4 pre-mRNA processing factor 4 homolog (yeast) "WD repeat domain containing|U4/U6 small nuclear ribonucleoprotein " "362|1502" 2002-05-03 2013-10-03 2016-10-05 9128 ENSG00000136875 OTTHUMG00000020517 uc004bgx.4 AF001687 NM_004697 "CCDS6791|CCDS59142" O43172 "9257651|9404889" MGI:1917302 RGD:1311303 607795 403096 HGNC:17349 "ENST00000374198.5|NM_001244926.2" HGNC:17349 +HGNC:17346 PRPF4B pre-mRNA processing factor 4B protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "Prp4|PR4H|KIAA0536" PRP4 pre-mRNA processing factor 4 homolog B (yeast) 2002-08-22 2013-10-03 2016-10-05 8899 ENSG00000112739 OTTHUMG00000014157 uc003mvv.4 U48736 NM_003913 CCDS4488 Q13523 "9628581|11418604" MGI:109584 RGD:1307784 602338 objectId:2177 HGNC:17346 "ENST00000337659.11|NM_003913.5" +HGNC:55055 PRPF4BP1 PRPF4B pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 653155 ENSG00000224217 NG_023298 +HGNC:15860 PRPF6 pre-mRNA processing factor 6 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "TOM|bB152O15.1|ANT-1|U5-102K|Prp6|hPrp6|SNRNP102|RP60" C20orf14 "chromosome 20 open reading frame 14|PRP6 pre-mRNA processing factor 6 homolog (yeast)|PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)" U5 small nuclear ribonucleoprotein 1503 2001-06-21 2006-03-23 2013-06-10 2015-08-25 24148 ENSG00000101161 OTTHUMG00000033018 uc002yho.4 AF026031 NM_012469 CCDS13550 O94906 "10561546|10788320" MGI:1922946 RGD:1307103 613979 266150 HGNC:15860 "ENST00000266079.5|NM_012469.4" HGNC:15860 +HGNC:17340 PRPF8 pre-mRNA processing factor 8 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "PRPC8|Prp8|hPrp8|SNRNP220" RP13 "PRP8 pre-mRNA processing factor 8 homolog (yeast)|PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)" "JAMM/MPN+ metallopeptidase family|U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "999|1503|1508|1510|1516" 2001-12-11 2013-06-10 2014-11-19 10594 ENSG00000174231 OTTHUMG00000090553 uc002fte.3 AB007510 NM_006445 CCDS11010 Q6P2Q9 "11468273|10411133" MGI:2179381 RGD:1305467 Mutations of the Precursor mRNA Processing Protein 8|http://www.retina-international.org/files/sci-news/prpc8mut.htm 607300 118066 HGNC:17340 "ENST00000304992.11|NM_006445.4" HGNC:17340 +HGNC:17351 PRPF18 pre-mRNA processing factor 18 protein-coding gene gene with protein product Approved 10p13 10p13 hPrp18 "PRP18 pre-mRNA processing factor 18 homolog (yeast)|PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)" Spliceosomal C complex 1510 2002-05-28 2013-06-10 2016-10-05 8559 ENSG00000165630 OTTHUMG00000017702 uc001imp.4 U51990 NM_001395875 CCDS7100 Q99633 9000057 MGI:1914479 RGD:708550 604993 HGNC:17351 "ENST00000378572.8|NM_003675.4" +HGNC:17896 PRPF19 pre-mRNA processing factor 19 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "UBOX4|NMP200|PSO4|hPSO4|SNEV" "nuclear matrix protein NMP200 related to splicing factor PRP19|psoralen 4" PRP19 "PRP19/PSO4 homolog (S. cerevisiae)|PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)" "WD repeat domain containing|U-box domain containing|NineTeen complex|Spliceosomal C complex" "362|365|1361|1510" 2004-02-16 2005-04-01 2013-06-10 2016-10-19 27339 ENSG00000110107 OTTHUMG00000167798 uc001nqf.4 BC018698 NM_014502 CCDS7995 Q9UMS4 12960389 MGI:106247 RGD:708496 608330 HGNC:17896 "ENST00000227524.9|NM_014502.5" +HGNC:55484 PRPF19-DT PRPF19 divergent transcript non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 Divergent transcripts 1990 2021-03-11 2021-03-11 107984333 ENSG00000257052 +HGNC:23182 PRPF19P1 PRPF19 pseudogene 1 pseudogene pseudogene Approved 18q22.1 18q22.1 HsT1682 "PRP19P|PRPF19P" PRP19 pre-mRNA processing factor 19 homolog (S. cerevisiae) pseudogene 2004-02-16 2013-06-10 2013-06-10 2020-04-20 100422496 ENSG00000264685 OTTHUMG00000178514 NG_026300 PGOHUM00000234951 HGNC:23182 +HGNC:15446 PRPF31 pre-mRNA processing factor 31 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "NY-BR-99|PRP31|hPrp31|SNRNP61" U4/U6 small nuclear ribonucleoprotein Prp31 RP11 "PRP31 pre-mRNA processing factor 31 homolog (yeast)|PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)" U4/U6 small nuclear ribonucleoprotein 1502 2001-11-21 2013-06-10 2021-11-25 26121 ENSG00000105618 OTTHUMG00000066040 uc002qdh.3 AL050369 NM_015629 CCDS12879 Q8WWY3 11545739 MGI:1916238 RGD:1305832 Mutations of the RNA Processing Factor 31|http://www.retina-international.org/files/sci-news/prp31mut.htm 606419 118061 HGNC:15446 "ENST00000321030.9|NM_015629.4" HGNC:15446 +HGNC:40700 PRPF31-AS1 PRPF31 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 Antisense RNAs 1987 2021-06-30 2021-06-30 121832802 ENSG00000237017 OTTHUMG00000066041 XR_007067340 +HGNC:25930 PRPF38A pre-mRNA processing factor 38A protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "FLJ14936|Prp38" PRP38 pre-mRNA processing factor 38 (yeast) domain containing A Spliceosomal B complex 1507 2005-05-24 2013-10-03 2014-11-19 84950 ENSG00000134748 OTTHUMG00000008199 uc001ctv.5 AK092038 NM_032864 CCDS567 Q8NAV1 12477932 MGI:1916962 RGD:1311129 617031 HGNC:25930 "ENST00000257181.10|NM_032864.4" +HGNC:44692 PRPF38AP1 PRP38 domain containing A pseudogene 1 pseudogene pseudogene Approved 10p14 10p14 2012-12-04 2012-12-04 389935 ENSG00000225053 OTTHUMG00000017644 NG_022160 PGOHUM00000238671 HGNC:44692 +HGNC:44693 PRPF38AP2 PRP38 domain containing A pseudogene 2 pseudogene pseudogene Approved 10p12.33 10p12.33 2012-12-04 2012-12-04 100131947 ENSG00000236582 OTTHUMG00000017752 NG_022162 PGOHUM00000238679 HGNC:44693 +HGNC:25512 PRPF38B pre-mRNA processing factor 38B protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ10330|NET1" PRP38 pre-mRNA processing factor 38 (yeast) domain containing B 2005-05-24 2013-10-03 2014-11-18 55119 ENSG00000134186 OTTHUMG00000010991 uc001dvv.5 AL833950 NM_018061 "CCDS788|CCDS86003" Q5VTL8 MGI:1914171 RGD:1562940 HGNC:25512 "ENST00000370025.9|NM_018061.4" +HGNC:20314 PRPF39 pre-mRNA processing factor 39 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 "FLJ20666|FLJ11128" "PRP39 pre-mRNA processing factor 39 homolog (yeast)|PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)" Small nucleolar RNA protein coding host genes 1835 2003-01-22 2013-10-03 2016-10-05 55015 ENSG00000185246 OTTHUMG00000140265 uc001wvz.4 AK000673 NM_017922 CCDS9682 Q86UA1 MGI:104602 RGD:1308702 614907 HGNC:20314 "ENST00000355765.11|NM_017922.4" +HGNC:55576 PRPF39-DT PRPF39 divergent transcript non-coding RNA RNA, long non-coding Approved 14q21.2 14q21.2 Divergent transcripts 1990 2021-04-23 2021-04-23 105370474 ENSG00000249163 XR_007064137 +HGNC:16463 PRPF40A pre-mRNA processing factor 40 homolog A protein-coding gene gene with protein product Approved 2q23.3 02q23.3 "FLJ20585|FBP11|HYPA|NY-REN-6|HIP10|FBP-11|FLAF1|Prp40" FNBP3 "formin-binding protein 3|formin binding protein 3|PRP40 pre-mRNA processing factor 40 homolog A (yeast)|PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)|PRP40 pre-mRNA processing factor 40 homolog A" Spliceosomal A complex 1504 2001-08-28 2006-01-13 2015-11-27 2018-11-19 55660 ENSG00000196504 OTTHUMG00000154031 uc002tyh.5 AF049523 NM_017892 CCDS46430 O75400 "9724750|12460579" MGI:1860512 RGD:1311401 612941 HGNC:16463 +HGNC:25031 PRPF40B pre-mRNA processing factor 40 homolog B protein-coding gene gene with protein product Approved 12q13.12 12q13.12 HYPC Huntingtin interacting protein C "PRP40 pre-mRNA processing factor 40 homolog B (yeast)|PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)|PRP40 homolog, pre-mRNA processing factor B" 2006-01-13 2015-11-27 2021-04-13 25766 ENSG00000110844 OTTHUMG00000169568 uc001rus.3 AF049525 NM_012272 CCDS31796 Q6NWY9 "9700202|25605964" MGI:1925583 RGD:1565411 LRG_625|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_625.xml HGNC:25031 "ENST00000548825.7|NM_001031698.3" +HGNC:9461 PRPH peripherin protein-coding gene gene with protein product Approved 12q13.12 12q13.12 PRPH1 NEF4 Intermediate filaments Type III 610 1992-02-27 2016-01-15 5630 ENSG00000135406 OTTHUMG00000167140 uc001rtu.4 NM_006262 CCDS8783 P41219 1378416 MGI:97774 RGD:3414 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 170710 209470 HGNC:9461 HGNC:9461 "ENST00000257860.9|NM_006262.4" +HGNC:9942 PRPH2 peripherin 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TSPAN22|rd2|CACD2" "retinal peripherin|tetraspanin-22|choroidal dystrophy, central areolar 2" "RP7|RDS" "retinal degeneration, slow (retinitis pigmentosa 7)|retinal degeneration, slow|peripherin 2 (retinal degeneration, slow)" Tetraspanins 768 1990-03-06 2006-11-23 2016-06-01 2021-11-25 5961 ENSG00000112619 OTTHUMG00000014701 uc003osk.4 NM_000322 CCDS4871 P23942 1749427 MGI:102791 RGD:3549 179605 118070 HGNC:9942 "ENST00000230381.7|NM_000322.5" HGNC:9942 +HGNC:9462 PRPS1 phosphoribosyl pyrophosphate synthetase 1 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "CMTX5|DFNX1|PRS-I|PPRibP" "PRS I|ribose-phosphate diphosphokinase 1" DFN2 deafness, X-linked 2, perceptive, congenital 2001-06-22 2022-01-19 5631 ENSG00000147224 OTTHUMG00000022167 uc004ene.5 X15331 NM_001204402 CCDS14529 P60891 "1962753|20021999" MGI:97775 RGD:61955 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRPS1|LRG_264|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_264.xml" 311850 118076 2.7.6.1 HGNC:9462 "ENST00000372435.10|NM_002764.4" HGNC:9462 +HGNC:9463 PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 PRPS3 PRPSL 1989-05-10 2019-02-18 2019-02-18 221823 ENSG00000229937 OTTHUMG00000152742 uc003stz.5 M57423 NM_175886 CCDS47552 P21108 2168892 MGI:1922706 RGD:1306328 611566 HGNC:9463 "ENST00000506618.5|NM_175886.3" +HGNC:39427 PRPS1P1 phosphoribosyl pyrophosphate synthetase 1 pseudogene 1 pseudogene pseudogene Approved 2q24.3 02q24.3 2010-12-13 2010-12-14 2011-01-05 100861436 ENSG00000226847 OTTHUMG00000153936 NG_032007 PGOHUM00000241005 HGNC:39427 +HGNC:9464 PRPS1P2 phosphoribosyl pyrophosphate synthetase 1 pseudogene 2 pseudogene pseudogene Approved 9q33.3 09q33.3 PRPS1L2 phosphoribosyl pyrophosphate synthetase 1-like 2 1989-05-10 2010-12-13 2010-12-13 2020-04-20 100421295 ENSG00000232630 OTTHUMG00000020669 NG_023956 "1962753|2536962" PGOHUM00000236770 HGNC:9464 +HGNC:9465 PRPS2 phosphoribosyl pyrophosphate synthetase 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "PRS II|ribose-phosphate diphosphokinase 2" 2001-06-22 2020-04-02 5634 ENSG00000101911 OTTHUMG00000021139 uc004cvb.4 Y00971 NM_002765 "CCDS14150|CCDS43918" P11908 1962753 MGI:97776 RGD:3415 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRPS2 311860 2.7.6.1 HGNC:9465 "ENST00000380668.10|NM_002765.5" +HGNC:9466 PRPSAP1 phosphoribosyl pyrophosphate synthetase associated protein 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 PAP39 1995-05-01 2016-07-01 2016-10-05 5635 ENSG00000161542 OTTHUMG00000155969 uc010wta.2 D61391 NM_002766 "CCDS11743|CCDS82209" Q14558 8660991 MGI:1915013 RGD:620206 601249 HGNC:9466 "ENST00000446526.8|NM_002766.3" +HGNC:9467 PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 PAP41 phosphoribosyl pyrophosphate synthetase-associated protein 2 1998-05-15 2016-04-01 2016-10-05 5636 ENSG00000141127 OTTHUMG00000059406 uc010vyj.3 AB007851 NM_002767 "CCDS58525|CCDS58527|CCDS58526|CCDS11200" O60256 9806849 MGI:2384838 RGD:620207 603762 HGNC:9467 "ENST00000268835.7|NM_002767.4" +HGNC:21149 PRR3 proline rich 3 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "CAT56|Em:AB014077.1|Em:AB023052.2" proline-rich polpeptide 3 Zinc fingers CCCH-type 73 2003-05-21 2004-05-27 2016-10-05 80742 ENSG00000204576 OTTHUMG00000031037 uc003nqi.3 AK074531 NM_025263 "CCDS43440|CCDS43441" P79522 MGI:1922460 RGD:1303270 HGNC:21149 "ENST00000376560.8|NM_025263.4" +HGNC:18020 PRR4 proline rich 4 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 LPRP PROL4 proline rich 4 (lacrimal) 2002-01-21 2004-05-28 2018-02-09 2020-04-01 11272 ENSG00000111215 OTTHUMG00000168522 uc001qyz.5 NM_007244 "CCDS55804|CCDS41756" Q16378 7544782 RGD:735181 605359 HGNC:18020 "ENST00000228811.8|NM_007244.3" +HGNC:31682 PRR5 proline rich 5 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "PP610|FLJ20185k|Protor-1" protein observed with Rictor-1 proline rich 5 (renal) MTOR complex 2 1333 2006-03-16 2015-12-07 2016-10-05 55615 ENSG00000186654 OTTHUMG00000150460 uc010gzt.2 AF177331 NM_001017528 "CCDS74875|CCDS56232|CCDS14058|CCDS14059" P85299 "15718101|17599906" MGI:1924714 RGD:1307954 609406 HGNC:31682 "ENST00000336985.11|NM_181333.4" +HGNC:34512 PRR5-ARHGAP8 PRR5-ARHGAP8 readthrough other readthrough Approved 22q13.31 22q13.31 2009-11-05 2016-10-05 553158 ENSG00000248405 OTTHUMG00000160954 uc062ezy.1 NM_181334 HGNC:34512 +HGNC:25878 PRR5L proline rich 5 like protein-coding gene gene with protein product Approved 11p13-p12 11p13-p12 "FLJ14213|PROTOR-2" protein observed with Rictor-2 2009-05-29 2018-02-13 79899 ENSG00000135362 OTTHUMG00000166334 uc001mwo.5 NM_024841 "CCDS53617|CCDS31463" Q6MZQ0 17461779 MGI:1919696 RGD:1309969 611728 HGNC:25878 "ENST00000530639.6|NM_001160167.2" +HGNC:28130 PRR7 proline rich 7, synaptic protein-coding gene gene with protein product Approved 5q35.3 05q35.3 MGC10772 proline rich 7 (synaptic) 2005-01-20 2016-09-09 2016-09-09 80758 ENSG00000131188 OTTHUMG00000130861 uc003mgu.2 BC021240 NM_030567 CCDS4419 Q8TB68 15629447 MGI:3487246 RGD:1561898 618306 HGNC:28130 "ENST00000323249.8|NM_030567.5" +HGNC:27961 PRR7-AS1 PRR7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 PRR7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 340037 ENSG00000246334 OTTHUMG00000163400 uc021yiv.2 BC041422 NR_038915 12477932 PRR7-AS1 HGNC:27961 +HGNC:32057 PRR9 proline rich 9 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 2005-07-11 2015-08-25 574414 ENSG00000203783 OTTHUMG00000013936 uc021ozw.1 AL161636 NM_001195571 CCDS55639 Q5T870 MGI:1925680 RGD:2320351 HGNC:32057 "ENST00000368744.4|NM_001195571.2" +HGNC:25619 PRR11 proline rich 11 protein-coding gene gene with protein product Approved 17q22 17q22 FLJ11029 2005-12-13 2020-04-01 55771 ENSG00000068489 OTTHUMG00000179362 uc060ibs.1 NM_018304 CCDS11614 Q96HE9 11799066 MGI:2444496 RGD:1561541 615920 HGNC:25619 "ENST00000262293.9|NM_018304.4" +HGNC:29217 PRR12 proline rich 12 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 KIAA1205 KIAA1205 2004-02-10 2006-02-06 2006-02-06 2020-04-01 57479 ENSG00000126464 OTTHUMG00000183275 uc002poo.5 AB033031 NM_020719 CCDS46143 Q9ULL5 10574462 MGI:2679002 RGD:1309896 616633 HGNC:29217 "ENST00000418929.7|NM_020719.3" +HGNC:24528 PRR13 proline rich 13 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "FLJ23818|DKFZP564J157" 2006-03-01 2014-12-08 54458 ENSG00000205352 OTTHUMG00000170049 uc058oqb.1 AF217517 NM_018457 "CCDS44899|CCDS31811" Q9NZ81 11230166 MGI:1913401 RGD:1307129 610459 HGNC:24528 "ENST00000429243.7|NM_018457.4" +HGNC:50614 PRR13P1 proline rich 13 pseudogene 1 pseudogene pseudogene Approved 1q31.3 01q31.3 2014-05-28 2014-05-28 647195 ENSG00000232824 OTTHUMG00000035654 NG_030203 PGOHUM00000261293 HGNC:50614 +HGNC:50615 PRR13P2 proline rich 13 pseudogene 2 pseudogene pseudogene Approved 11p15.4 11p15.4 2014-05-28 2015-03-09 106480303 ENSG00000254884 OTTHUMG00000165752 NG_045790 PGOHUM00000290392 HGNC:50615 +HGNC:50616 PRR13P3 proline rich 13 pseudogene 3 pseudogene pseudogene Approved 11q23.3 11q23.3 2014-05-28 2015-03-09 100129201 ENSG00000271412 OTTHUMG00000184783 NG_029238 PGOHUM00000290717 HGNC:50616 +HGNC:50617 PRR13P4 proline rich 13 pseudogene 4 pseudogene pseudogene Approved 18q21.1 18q21.1 2014-05-28 2015-03-09 100288008 ENSG00000264971 OTTHUMG00000179700 NG_030065 PGOHUM00000294779 HGNC:50617 +HGNC:50618 PRR13P5 proline rich 13 pseudogene 5 pseudogene pseudogene Approved 19q13.2 19q13.2 2014-05-28 2015-03-09 440525 ENSG00000187534 OTTHUMG00000182585 NG_005548 PGOHUM00000295002 HGNC:50618 +HGNC:50619 PRR13P6 proline rich 13 pseudogene 6 pseudogene pseudogene Approved 7q11.21 07q11.21 2014-05-28 2015-02-03 112272601 NG_066013 PGOHUM00000261493 +HGNC:50620 PRR13P7 proline rich 13 pseudogene 7 pseudogene pseudogene Approved 8q21.3 08q21.3 2014-05-28 2015-03-09 100289644 ENSG00000271202 OTTHUMG00000184728 NG_032746 PGOHUM00000303302 HGNC:50620 +HGNC:28458 PRR14 proline rich 14 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC3121 2006-04-04 2019-03-01 78994 ENSG00000156858 OTTHUMG00000132414 uc002dyy.4 AK074783 NM_024031 CCDS10687 Q9BWN1 24209742 MGI:2384565 RGD:1594592 617423 HGNC:28458 "ENST00000300835.9|NM_024031.5" +HGNC:28738 PRR14L proline rich 14 like protein-coding gene gene with protein product Approved 22q12.2 22q12.2 MGC50372 C22orf30 "chromosome 22 open reading frame 30|proline rich 14-like" 2006-07-05 2011-01-25 2016-01-18 2019-03-01 253143 ENSG00000183530 OTTHUMG00000030139 uc003alp.5 BC040859 NM_173566 CCDS13900 Q5THK1 30573780 MGI:2443658 RGD:1305469 HGNC:28738 "ENST00000327423.11|NM_173566.3" +HGNC:22310 PRR15 proline rich 15 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 2006-08-21 2019-03-01 222171 ENSG00000176532 OTTHUMG00000128555 uc003tac.1 BC029131 NM_175887 CCDS5421 Q8IV56 28380025 MGI:1925254 RGD:1311589 618344 HGNC:22310 "ENST00000319694.3|NM_175887.3" +HGNC:55866 PRR15-DT PRR15 divergent transcript non-coding RNA RNA, long non-coding Approved 7p14.3 07p14.3 Divergent transcripts 1990 2021-09-06 2021-09-06 107986700 ENSG00000223813 XR_007060269 +HGNC:28149 PRR15L proline rich 15 like protein-coding gene gene with protein product Approved 17q21.32 17q21.32 MGC11242 ATAD4 "ATPase family, AAA domain containing 4|proline rich 15-like" 2005-12-16 2009-11-11 2016-01-18 2020-04-01 79170 ENSG00000167183 OTTHUMG00000178297 uc002imp.5 BC002865 NM_024320 CCDS11523 Q9BU68 MGI:2387599 RGD:1592397 HGNC:28149 "ENST00000300557.3|NM_024320.4" +HGNC:29654 PRR16 proline rich 16 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 DSC54 Largen 2006-08-22 2016-06-23 51334 ENSG00000184838 OTTHUMG00000128903 uc003ksq.4 AF242769 NM_016644 "CCDS4127|CCDS78053|CCDS75290" Q569H4 "15971941|24656129" MGI:1918623 RGD:1564528 615931 HGNC:29654 "ENST00000407149.7|NM_001300783.2" +HGNC:28574 PRR18 proline rich 18 protein-coding gene gene with protein product Approved 6q27 06q27 MGC35308 proline rich region 18 2007-06-14 2009-01-27 2016-10-25 285800 ENSG00000176381 OTTHUMG00000167034 uc003quw.2 BC034775 NM_175922 CCDS5291 Q8N4B5 12477932 MGI:2443403 RGD:1564079 HGNC:28574 "ENST00000322583.5|NM_175922.4" +HGNC:33728 PRR19 proline rich 19 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MGC70924 2007-12-17 2020-04-01 284338 ENSG00000188368 OTTHUMG00000182796 uc002oti.3 AK124116 NM_199285 CCDS33036 A6NJB7 MGI:3648539 RGD:1595416 HGNC:33728 "ENST00000341747.8|NM_199285.3" +HGNC:24754 PRR20A proline rich 20A protein-coding gene gene with protein product Approved 13q21.1 13q21.1 FLJ40296 PRR20 proline rich 20 2009-01-27 2009-10-08 2009-10-08 2015-09-07 122183 ENSG00000204919 OTTHUMG00000160602 uc010thd.1 BC120931 NM_198441 CCDS31981 P86496 HGNC:24754 "ENST00000377931.1|NM_198441.2" +HGNC:37220 PRR20B proline rich 20B protein-coding gene gene with protein product Approved 13q21.1 13q21.1 2009-10-08 2015-09-07 729233 ENSG00000204918 OTTHUMG00000184243 uc010the.1 NM_001130404 CCDS45053 P86481 HGNC:37220 "ENST00000377930.1|NM_001130404.1" +HGNC:37221 PRR20C proline rich 20C protein-coding gene gene with protein product Approved 13q21.1 13q21.1 2009-10-08 2015-09-07 729240 ENSG00000229665 OTTHUMG00000184244 uc058xhy.1 NM_001130405 CCDS45054 P86479 HGNC:37221 "ENST00000544357.2|NM_001130405.1" +HGNC:37222 PRR20D proline rich 20D protein-coding gene gene with protein product Approved 13q21.1 13q21.1 2009-10-08 2015-09-07 729246 ENSG00000227151 OTTHUMG00000184245 uc010thg.1 NM_001130406 CCDS45055 P86480 HGNC:37222 "ENST00000452123.3|NM_001130406.1" +HGNC:37223 PRR20E proline rich 20E protein-coding gene gene with protein product Approved 13q21.1 13q21.1 2009-10-08 2015-09-07 729250 ENSG00000234278 OTTHUMG00000184246 uc010thh.1 NM_001130407 CCDS45056 P86478 RGD:1591392 HGNC:37223 "ENST00000434815.1|NM_001130407.1" +HGNC:49097 PRR20FP proline rich 20F, pseudogene pseudogene pseudogene Approved 13q21.1 13q21.1 PRR20F 2013-09-02 2018-04-18 106480416 ENSG00000271140 OTTHUMG00000184247 NG_045347 PGOHUM00000248605 HGNC:49097 +HGNC:53837 PRR20G proline rich 20G protein-coding gene gene with protein product Approved 3q21.3 03q21.3 2018-05-02 2018-05-02 100419008 ENSG00000239620 OTTHUMG00000159594 NM_001362810 P0DPQ3 HGNC:53837 "ENST00000465482.3|NM_001362810.2" +HGNC:33866 PRR21 proline rich 21 other unknown Approved 2q37.3 02q37.3 2009-04-20 2019-06-27 643905 uc010zod.3 AF453950 NM_001080835 29982784 RGD:9102085 HGNC:33866 +HGNC:28354 PRR22 proline rich 22 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC24975 2009-07-15 2015-08-25 163154 ENSG00000212123 OTTHUMG00000180553 uc010xiv.1 BC023278 NM_153359 CCDS45933 Q8IZ63 12477932 MGI:2685392 RGD:1595447 HGNC:28354 "ENST00000419421.3|NM_001134316.2" +HGNC:37172 PRR23A proline rich 23A protein-coding gene gene with protein product Approved 3q23 03q23 2009-08-21 2020-04-01 729627 ENSG00000206260 uc011bms.3 NM_001134659 CCDS46923 A6NEV1 "MGI:3588253|MGI:1919229|MGI:3645937|MGI:3645743" RGD:1591440 HGNC:37172 "ENST00000383163.4|NM_001134659.1" +HGNC:33764 PRR23B proline rich 23B protein-coding gene gene with protein product Approved 3q23 03q23 FLJ46116 2009-08-21 2016-10-05 389151 ENSG00000184814 OTTHUMG00000160633 uc003esy.1 BC137146 NM_001013650 CCDS33868 Q6ZRT6 "MGI:3588253|MGI:1919229|MGI:3645937|MGI:3645743" HGNC:33764 "ENST00000329447.5|NM_001013650.2" +HGNC:37173 PRR23C proline rich 23C protein-coding gene gene with protein product Approved 3q23 03q23 FLJ46210 2009-08-21 2016-10-24 389152 ENSG00000233701 OTTHUMG00000160634 uc011bmt.1 NM_001134657 CCDS46924 Q6ZRP0 "MGI:3588253|MGI:1919229|MGI:3645937|MGI:3645743" HGNC:37173 "ENST00000413199.1|NM_001134657.1" +HGNC:49420 PRR23D1 proline rich 23 domain containing 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 2013-11-07 2013-11-07 100131608 ENSG00000255251 OTTHUMG00000165386 NM_001282479 CCDS64820 E9PI22 HGNC:49420 "ENST00000533250.2|NM_001282479.1" +HGNC:49396 PRR23D2 proline rich 23 domain containing 2 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 2013-11-07 2013-11-07 100133251 ENSG00000255378 OTTHUMG00000165398 NM_001282478 CCDS64821 P0DMB1 RGD:1591417 HGNC:49396 "ENST00000528972.1|NM_001282478.1" +HGNC:54637 PRR23D3P proline rich 23 domain containing 3, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 2019-10-23 2019-10-23 101929013 ENSG00000254776 OTTHUMG00000165399 PGOHUM00000303068 +HGNC:37230 PRR25 proline rich 25 other unknown Approved 16p13.3 16p13.3 gs64 2009-09-11 2022-02-03 388199 OTTHUMG00000178117 uc010uut.2 BC156145 NM_001013638 Q96S07 11157797 HGNC:37230 +HGNC:33193 PRR27 proline rich 27 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 C4orf40 chromosome 4 open reading frame 40 2007-08-15 2014-02-19 2014-02-19 2014-11-19 401137 ENSG00000187533 OTTHUMG00000129402 BX640924 NM_214711 CCDS3535 Q6MZM9 MGI:1921029 RGD:1310384 HGNC:33193 "ENST00000344526.10|NM_214711.4" +HGNC:25673 PRR29 proline rich 29 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "FLJ11724|DKFZp761M2312" C17orf72 chromosome 17 open reading frame 72 2006-01-04 2014-04-11 2014-04-11 2014-04-11 92340 ENSG00000224383 OTTHUMG00000178594 AL161972 NM_001191029 "CCDS58586|CCDS54157|CCDS54159|CCDS54158" P0C7W0 12477932 MGI:1922823 RGD:1307288 HGNC:25673 "ENST00000412177.6|NM_001164257.2" +HGNC:51822 PRR29-AS1 PRR29 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q23.3 17q23.3 Antisense RNAs 1987 2015-06-19 2015-06-19 400612 ENSG00000264954 OTTHUMG00000178593 AK094767 NR_126169 PRR29-AS1 HGNC:51822 +HGNC:28677 PRR30 proline rich 30 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 MGC44505 C2orf53 chromosome 2 open reading frame 53 2006-11-03 2014-04-11 2014-04-11 2015-08-25 339779 ENSG00000186143 OTTHUMG00000128408 BC045671 NM_178553 CCDS1739 Q53SZ7 12477932 MGI:1923877 RGD:2315526 HGNC:28677 "ENST00000335524.7|NM_178553.4" +HGNC:34498 PRR32 proline rich 32 protein-coding gene gene with protein product Approved Xq25 Xq25 CXorf64 chromosome X open reading frame 64 2008-08-06 2014-04-11 2014-04-11 2020-04-02 100130613 ENSG00000183631 OTTHUMG00000022355 NM_001122716 CCDS48163 B1ATL7 21375368 MGI:1916050 RGD:1583341 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf64 HGNC:34498 "ENST00000371125.4|NM_001122716.2" +HGNC:35118 PRR33 proline rich 33 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 LOC728008 C11orf89 chromosome 11 open reading frame 89 2008-09-16 2014-04-11 2014-04-11 2020-04-20 102724536 ENSG00000283787 OTTHUMG00000191981 NM_001395380 A8MZF0 MGI:3642289 RGD:1592568 HGNC:35118 +HGNC:25606 PRR34 PRR34 long non-coding RNA non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 FLJ10945 C22orf26 "chromosome 22 open reading frame 26|proline rich 34" Long non-coding RNAs with non-systematic symbols 1992 2006-06-26 2014-04-11 2018-08-09 2019-10-30 55267 ENSG00000182257 OTTHUMG00000150407 AK096201 NR_165243 Q9NV39 HGNC:25606 +HGNC:50499 PRR34-AS1 PRR34 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Antisense RNAs 1987 2014-06-13 2014-06-13 150381 ENSG00000241990 OTTHUMG00000150198 NR_027034 HGNC:50499 +HGNC:14139 PRR35 proline rich 35 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 C16orf11 chromosome 16 open reading frame 11 2000-12-21 2014-04-11 2014-04-11 2015-09-07 146325 ENSG00000161992 OTTHUMG00000154104 NM_145270 CCDS45365 P0CG20 MGI:2442713 RGD:1598335 HGNC:14139 "ENST00000409413.4|NM_145270.3" +HGNC:26172 PRR36 proline rich 36 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 2014-10-16 2015-09-07 80164 ENSG00000183248 OTTHUMG00000182504 NM_001190467 CCDS74276 Q9H6K5 MGI:3605626 RGD:1566084 HGNC:26172 "ENST00000618550.5|NM_001190467.2" +HGNC:28164 PRRC1 proline rich coiled-coil 1 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 FLJ32875 proline-rich coiled-coil 1 2006-08-18 2016-01-25 2016-01-25 133619 ENSG00000164244 OTTHUMG00000128982 uc003kuk.5 AJ515429 NM_130809 "CCDS4143|CCDS68943" Q96M27 15541471 MGI:1916106 RGD:1565632 HGNC:28164 "ENST00000296666.13|NM_130809.5" +HGNC:13918 PRRC2A proline rich coiled-coil 2A protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G2|D6S51E" BAT2 "HLA-B associated transcript 2|proline-rich coiled-coil 2A" "MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1691|1835" 2001-07-13 2010-12-09 2016-01-25 2016-10-05 7916 ENSG00000204469 OTTHUMG00000031168 uc003nvb.5 M31293 NM_080686 CCDS4708 P48634 "2156268|8499947" MGI:1915467 RGD:1303025 142580 HGNC:13918 "ENST00000376033.3|NM_004638.4" +HGNC:28121 PRRC2B proline rich coiled-coil 2B protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "MGC10526|LQFBS-1" "KIAA0515|BAT2L|BAT2L1" "KIAA0515|HLA-B associated transcript 2-like|HLA-B associated transcript 2-like 1|proline-rich coiled-coil 2B" Small nucleolar RNA protein coding host genes 1835 2004-01-27 2010-12-09 2016-01-25 2021-08-17 84726 ENSG00000288701 OTTHUMG00000020827 uc004cam.2 AB011087 NM_001384818 CCDS48044 Q5JSZ5 9628581 MGI:1923304 RGD:1595906 619544 HGNC:28121 "ENST00000683519.1|NM_013318.4" +HGNC:24903 PRRC2C proline rich coiled-coil 2C protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "KIAA1096|XTP2" "BAT2D1|BAT2L2" "BAT2 domain containing 1|HLA-B associated transcript 2-like 2|proline-rich coiled-coil 2C" 2005-02-09 2010-12-09 2016-01-25 2016-01-25 23215 ENSG00000117523 OTTHUMG00000034665 uc010pmg.3 AL096857 NM_015172 CCDS1296 Q9Y520 "10470851|12443540" MGI:1913754 RGD:1566064 617373 HGNC:24903 "ENST00000647382.2|NM_001387844.1" +HGNC:23949 PRRC2CP1 proline rich coiled-coil 2C pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 BAT2D1P1 "HBxAg transactivated protein 2 pseudogene|BAT2 domain containing 1 pseudogene 1" BAT2L2P1 "HLA-B associated transcript 2-like 2 pseudogene 1|proline-rich coiled-coil 2C pseudogene 1" 2009-12-17 2010-12-09 2016-01-25 2016-01-25 360018 ENSG00000216777 OTTHUMG00000036160 NG_002936 12815422 PGOHUM00000233665 HGNC:23949 +HGNC:9469 PRRG1 proline rich and Gla domain 1 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 PRGP1 proline-rich Gla (G-carboxyglutamic acid) polypeptide 1 Proline rich and Gla domain containing 1249 1997-10-16 2016-04-27 2020-04-02 5638 ENSG00000130962 OTTHUMG00000021360 uc004ddo.3 AF009242 NM_000950 "CCDS14239|CCDS55397" O14668 9256434 MGI:1917364 RGD:1561320 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRRG1 300935 HGNC:9469 "ENST00000378628.9|NM_001142395.2" +HGNC:9470 PRRG2 proline rich and Gla domain 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 PRGP2 proline-rich Gla (G-carboxyglutamic acid) polypeptide 2 Proline rich and Gla domain containing 1249 1997-10-16 2016-04-27 2019-08-21 5639 ENSG00000126460 OTTHUMG00000183153 uc002pon.4 NM_000951 CCDS12773 O14669 9256434 MGI:1929596 RGD:1305444 604429 HGNC:9470 "ENST00000246794.10|NM_000951.3" +HGNC:30798 PRRG3 proline rich and Gla domain 3 protein-coding gene gene with protein product Approved Xq28 Xq28 TMG3 proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) Proline rich and Gla domain containing 1249 2004-09-01 2016-04-27 2020-04-02 79057 ENSG00000130032 OTTHUMG00000024170 uc004few.3 AK074574 NM_024082 CCDS14699 Q9BZD7 11171957 MGI:2685214 RGD:1560309 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PRRG3 300685 HGNC:30798 "ENST00000674457.1|NM_001372163.1" +HGNC:30799 PRRG4 proline rich and Gla domain 4 protein-coding gene gene with protein product Approved 11p13 11p13 TMG4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) Proline rich and Gla domain containing 1249 2004-09-01 2016-04-27 2016-04-27 79056 ENSG00000135378 OTTHUMG00000166219 uc001mtx.4 AF326351 NM_024081 CCDS7881 Q9BZD6 11171957 MGI:2442211 RGD:1560542 611690 HGNC:30799 "ENST00000257836.4|NM_024081.6" +HGNC:13943 PRRT1 proline rich transmembrane protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "NG5|IFITMD7|DSPD1" "interferon induced transmembrane protein domain containing 7|dispanin subfamily D member 1" C6orf31 "chromosome 6 open reading frame 31|proline-rich transmembrane protein 1" interferon induced transmembrane protein domain containing 1600 2000-12-05 2005-07-24 2016-01-27 2018-03-08 80863 ENSG00000204314 OTTHUMG00000031144 uc003nzt.4 AK054885 NM_030651 "CCDS87385|CCDS4739" Q99946 MGI:1932118 RGD:1359348 618297 HGNC:13943 "ENST00000211413.10|NM_030651.4" +HGNC:53642 PRRT1B proline rich transmembrane protein 1B protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "IFITMD8|DSPD2" dispanin subfamily D member 2 interferon induced transmembrane protein domain containing 1600 2017-08-10 2018-03-08 642515 ENSG00000283526 OTTHUMG00000191656 NM_001365666 A0A1B0GWB2 MGI:3649917 RGD:7582623 HGNC:53642 +HGNC:30500 PRRT2 proline rich transmembrane protein 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ25513|DKFZp547J199|IFITMD1|FICCA|DSPB3|PKC|EKD1" "interferon induced transmembrane protein domain containing 1|dispanin subfamily B member 3" "ICCA|DYT10" "infantile convulsions and paroxysmal choreoathetosis|dystonia 10|proline-rich transmembrane protein 2" interferon induced transmembrane protein domain containing 1600 2005-11-25 2016-01-27 2018-03-19 112476 ENSG00000167371 OTTHUMG00000177142 uc002due.4 BC011405 NM_145239 "CCDS58446|CCDS10654|CCDS58445" Q7Z6L0 "22101681|22243967|29346777" MGI:1916267 RGD:1564195 614386 291703 HGNC:30500 "ENST00000358758.12|NM_145239.3" HGNC:30500 +HGNC:26591 PRRT3 proline rich transmembrane protein 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 FLJ33674 proline-rich transmembrane protein 3 2005-12-19 2016-01-27 2016-01-27 285368 ENSG00000163704 OTTHUMG00000155285 uc003bul.2 AK090993 NM_207351 "CCDS82732|CCDS43049" Q5FWE3 MGI:2444810 RGD:1562419 HGNC:26591 "ENST00000412055.6|NM_207351.5" +HGNC:41151 PRRT3-AS1 PRRT3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 PRRT3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-07-23 100874032 ENSG00000230082 OTTHUMG00000155293 uc031ryi.1 NR_046734 32086850 619106 PRRT3-AS1 HGNC:41151 +HGNC:37280 PRRT4 proline rich transmembrane protein 4 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 proline-rich transmembrane protein 4 2009-09-22 2016-01-27 2016-04-25 401399 ENSG00000224940 OTTHUMG00000157714 uc022aky.2 BC063892 NM_001114726 "CCDS47698|CCDS55160" C9JH25 MGI:2141677 RGD:1559885 HGNC:37280 +HGNC:9142 PRRX1 paired related homeobox 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 PHOX1 PMX1 paired mesoderm homeo box 1 PRD class homeoboxes and pseudogenes 521 1994-03-21 2003-11-14 2003-11-12 2021-05-26 5396 ENSG00000116132 OTTHUMG00000035231 uc001ghf.4 M95929 NM_006902 "CCDS1291|CCDS1290" P54821 1509260 MGI:97712 RGD:628884 PRRX1 167420 8549 270071 HGNC:9142 "ENST00000239461.11|NM_022716.4" HGNC:9142 +HGNC:21338 PRRX2 paired related homeobox 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "PRX2|PMX2" PRD class homeoboxes and pseudogenes 521 2003-11-13 2015-09-07 51450 ENSG00000167157 OTTHUMG00000020790 uc004byh.4 AF061970 NM_016307 CCDS6926 Q99811 11063257 MGI:98218 RGD:1311471 604675 8506 470914 HGNC:21338 "ENST00000372469.6|NM_016307.4" +HGNC:50684 PRRX2-AS1 PRRX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Antisense RNAs 1987 2014-06-05 2014-06-05 101929437 ENSG00000236024 OTTHUMG00000020789 NR_132102 PRRX2-AS1 HGNC:50684 +HGNC:9475 PRSS1 serine protease 1 protein-coding gene gene with protein product Approved 7q34 07q34 TRY1 "trypsin 1|protease, serine 1" Serine proteases 738 2001-06-22 2018-01-19 2021-05-26 5644 ENSG00000204983 OTTHUMG00000158923 uc003wak.3 M22612 NM_002769 CCDS5872 P07477 "MGI:1914623|MGI:3687012" RGD:3417 LRG_1013|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1013.xml 276000 118080 S01.127 objectId:2397 3.4.21.4 HGNC:9475 "ENST00000311737.12|NM_002769.5" HGNC:9475 +HGNC:9483 PRSS2 serine protease 2 protein-coding gene gene with protein product Approved 7q34 07q34 TRY2 trypsin 2 protease, serine 2 Serine proteases 738 1995-02-24 2018-01-19 2018-01-19 5645 ENSG00000275896 OTTHUMG00000158904 uc284qbb.1 M27602 NM_002770 "CCDS83235|CCDS83236" P07478 3011602 "MGI:102756|MGI:102757|MGI:3687012" 601564 139106 S01.258 objectId:2398 3.4.21.4 HGNC:9483 "ENST00000539842.6|NM_002770.4" +HGNC:9486 PRSS3 serine protease 3 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "TRY3|TRY4" mesotrypsin PRSS4 "protease, serine, 4 (trypsin 4, brain)|protease, serine, 3 (mesotrypsin)|protease, serine 3" Serine proteases 738 1995-02-24 2018-01-19 2018-01-19 5646 ENSG00000010438 OTTHUMG00000019798 uc003ztl.5 NM_002771 "CCDS56570|CCDS56571|CCDS6545" P35030 "2326201|8294000" "MGI:98839|MGI:102756|MGI:102757|MGI:102758|MGI:102759|MGI:3646222|MGI:3687012" RGD:1311446 613578 S01.174 objectId:2399 3.4.21.4 HGNC:9486 "ENST00000379405.4|NM_002771.4" +HGNC:43787 PRSS3P1 PRSS3 pseudogene 1 pseudogene pseudogene Approved 7q34 07q34 TRY5 protease, serine 3 pseudogene 1 2012-03-06 2018-01-19 2018-01-19 168330 ENSG00000250591 OTTHUMG00000158914 NG_001333 PGOHUM00000306137 HGNC:43787 +HGNC:43788 PRSS3P2 PRSS3 pseudogene 2 pseudogene pseudogene Approved 7q34 alternate reference locus 07q34 alternate reference locus TRY6 trypsinogen C protease, serine 3 pseudogene 2 2012-03-06 2018-01-19 2018-01-19 154754 NR_001296 Q8NHM4 "MGI:102756|MGI:102757|MGI:3687012" PGOHUM00000260385 +HGNC:43790 PRSS3P3 PRSS3 pseudogene 3 pseudogene pseudogene Approved 7q34 07q34 TRY3 protease, serine 3 pseudogene 3 2012-03-06 2018-01-19 2018-01-19 136540 ENSG00000277083 OTTHUMG00000158568 NG_001333 PGOHUM00000302456 HGNC:43790 +HGNC:43789 PRSS3P4 PRSS3 pseudogene 4 pseudogene pseudogene Approved 9p13.3 09p13.3 "protease, serine, 3 pseudogene 4|protease, serine 3 pseudogene 4" 2012-03-06 2018-01-19 2018-01-19 106480774 ENSG00000204982 OTTHUMG00000000408 NG_045658 PGOHUM00000303776 HGNC:43789 +HGNC:9491 PRSS8 serine protease 8 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 CAP1 "prostasin|channel-activating serine protease 1" protease, serine 8 Serine proteases 738 1995-10-17 2018-01-19 2021-01-25 5652 ENSG00000052344 OTTHUMG00000176750 uc002ebc.5 U33446 NM_002773 CCDS45469 Q16651 "8838796|7768952" MGI:1923810 RGD:619973 600823 S01.159 objectId:2400 HGNC:9491 "ENST00000317508.11|NM_002773.5" +HGNC:9477 PRSS12 serine protease 12 protein-coding gene gene with protein product Approved 4q26 04q26 "BSSP-3|MRT1" "neurotrypsin|motopsin|brain-specific serine protease 3|mental retardation, autosomal recessive 1" protease, serine 12 "Serine proteases|Scavenger receptor cysteine rich domain containing" "738|1404" 1998-10-02 2018-01-19 2021-05-26 8492 ENSG00000164099 OTTHUMG00000161166 uc003ica.3 AJ001531 NM_003619 CCDS3709 P56730 "9540828|9245503" MGI:1100881 RGD:69238 606709 118083 S01.237 HGNC:9477 "ENST00000296498.3|NM_003619.4" HGNC:9477 +HGNC:9480 PRSS16 serine protease 16 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 TSSP thymus-specific serine protease protease, serine 16 Serine proteases 738 1999-12-10 2018-01-19 2018-01-19 10279 ENSG00000112812 OTTHUMG00000016167 uc003nja.4 AF052514 NM_005865 CCDS4623 Q9NQE7 10527559 MGI:1859181 RGD:1306652 607169 S28.003 HGNC:9480 "ENST00000230582.8|NM_005865.4" +HGNC:9485 PRSS21 serine protease 21 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ESP-1|TEST1" testisin protease, serine 21 Serine proteases 738 1999-12-17 2018-01-19 2018-01-19 10942 ENSG00000007038 OTTHUMG00000128931 uc002crt.5 AF058300 NM_006799 "CCDS45388|CCDS10478" Q9Y6M0 "10397266|9826525" MGI:1916698 RGD:727870 608159 S01.011 HGNC:9485 "ENST00000005995.8|NM_006799.4" +HGNC:14368 PRSS22 serine protease 22 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "hBSSP-4|BSSP-4|SP001LA" brain-specific serine protease 4 protease, serine 22 Serine proteases 738 2001-09-26 2018-01-19 2018-01-19 64063 ENSG00000005001 OTTHUMG00000128961 uc002cry.1 AF321182 NM_022119 CCDS10481 Q9GZN4 "11602603|15701722" MGI:1918085 RGD:1310880 609343 S01.252 HGNC:14368 "ENST00000161006.8|NM_022119.4" +HGNC:14370 PRSS23 serine protease 23 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 "SPUVE|SIG13" protease, serine 23 Serine proteases 738 2004-07-09 2018-01-19 2018-01-19 11098 ENSG00000150687 OTTHUMG00000167226 uc001pcb.4 AF015287 NM_007173 CCDS8278 O95084 MGI:1923703 RGD:1359545 618376 S01.309 HGNC:14370 "ENST00000280258.6|NM_007173.6" +HGNC:56071 PRSS23-AS1 PRSS23 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q14.2 11q14.2 Antisense RNAs 1987 2021-12-13 2021-12-13 123706520 ENSG00000255471 +HGNC:15475 PRSS27 serine protease 27 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MPN|CAPH2" "pancreasin|marapsin" protease, serine 27 Serine proteases 738 2001-05-10 2018-01-19 2018-01-19 83886 ENSG00000172382 OTTHUMG00000128929 uc002crf.4 AB056161 NM_031948 CCDS10476 Q9BQR3 MGI:2450123 RGD:1303256 608018 S01.074 HGNC:15475 "ENST00000302641.8|NM_031948.5" +HGNC:17542 PRSS29P serine protease 29, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 Isp2 protease, serine 29, pseudogene Serine proteases 738 2004-07-09 2018-01-12 2018-01-12 123787 ENSG00000196364 OTTHUMG00000172997 AF529082 NG_002329 A6NIE9 MGI:2149952 RGD:1305856 PGOHUM00000293388 HGNC:17542 +HGNC:28753 PRSS30P serine protease 30, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 "Disp|MGC5228" "TMPRSS8|TMPRSS8P" "transmembrane protease, serine 8 homolog (mouse), pseudogene|protease, serine, 30 homolog (mouse), pseudogene" Serine proteases 738 2009-06-05 2010-04-21 2018-01-12 2021-10-07 124221 ENSG00000172460 OTTHUMG00000128963 NR_026864 12477932 MGI:1353645 S01.969 HGNC:28753 +HGNC:30405 PRSS33 serine protease 33 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 EOS protease, serine 33 Serine proteases 738 2004-07-09 2018-01-19 2018-01-19 260429 ENSG00000103355 OTTHUMG00000177360 uc032don.1 AF536382 NM_152891 CCDS42110 Q8NF86 12795636 MGI:2661234 RGD:1583742 613797 S01.075 HGNC:30405 "ENST00000682474.1|NM_152891.3" +HGNC:21387 PRSS35 serine protease 35 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 "MGC46520|dJ223E3.1" C6orf158 "chromosome 6 open reading frame 158|protease, serine 35" Serine proteases 738 2003-06-11 2004-07-09 2018-01-19 2018-01-19 167681 ENSG00000146250 OTTHUMG00000015113 uc003pjz.4 BC037170 NM_153362 CCDS4999 Q8N3Z0 MGI:2444800 RGD:1311282 S01.994 HGNC:21387 "ENST00000369700.4|NM_153362.3" +HGNC:26906 PRSS36 serine protease 36 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ90661 polyserase 2 "protease, serine, 36|protease, serine 36" Serine proteases 738 2005-03-01 2018-01-19 2018-01-19 146547 ENSG00000178226 OTTHUMG00000176751 uc002ebd.5 AK075142 NM_173502 "CCDS58453|CCDS32436|CCDS58452" Q5K4E3 15536082 MGI:1924863 RGD:1593186 610560 XS01-002 HGNC:26906 "ENST00000268281.9|NM_173502.5" +HGNC:29211 PRSS37 serine protease 37 protein-coding gene gene with protein product Approved 7q34 07q34 protease, serine 37 Serine proteases 738 2009-09-22 2018-01-19 2018-01-19 136242 ENSG00000165076 OTTHUMG00000157174 uc064irq.1 NM_001008270 CCDS34764 A4D1T9 MGI:1914940 RGD:1311823 HGNC:29211 "ENST00000350549.8|NM_001008270.3" +HGNC:29625 PRSS38 serine protease 38 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 MPN2 marapsin 2 protease, serine 38 Serine proteases 738 2009-09-22 2018-01-19 2018-01-19 339501 ENSG00000185888 OTTHUMG00000037701 uc001hrh.4 NM_183062 CCDS1563 A1L453 12838346 MGI:2685095 RGD:1565729 HGNC:29625 +HGNC:37319 PRSS40A serine protease 40A (pseudogene) pseudogene pseudogene Approved 2q21.1 02q21.1 TISP43 serine protease 40A 2018-01-19 2019-06-27 2020-06-15 150527 ENSG00000183292 OTTHUMG00000153992 NR_027313 MGI:1270857 HGNC:37319 +HGNC:27164 PRSS40B serine protease 40B (pseudogene) pseudogene pseudogene Approved 2q21.1 02q21.1 serine protease 40B 2018-01-19 2019-06-27 2019-06-27 646743 ENSG00000184761 OTTHUMG00000153982 NR_033930 MGI:1270857 RGD:1309276 HGNC:27164 +HGNC:30715 PRSS41 serine protease 41 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 TESSP1 testis serine protease 1 protease, serine 41 Serine proteases 738 2010-04-08 2018-01-19 2018-01-19 360226 ENSG00000215148 OTTHUMG00000128932 NM_183379 Q7RTY9 12838346 MGI:1918253 RGD:1584711 S01.327 HGNC:30715 +HGNC:30716 PRSS42P serine protease 42, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 TESSP2 testis serine protease 2 PRSS42 "protease, serine 42|serine protease 42" Serine proteases 738 2009-11-06 2019-01-31 2019-01-31 2019-01-31 339906 ENSG00000178055 OTTHUMG00000156496 uc011bap.2 NR_148409 Q7Z5A4 12838346 MGI:2665280 RGD:1562548 HGNC:30716 +HGNC:37323 PRSS43P serine protease 43, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 TESSP3 PRSS43 "protease, serine 43|serine protease 43" Serine proteases 738 2010-02-23 2019-01-31 2019-01-31 2019-12-17 100288960 ENSG00000286651 NR_160552 MGI:2684822 S01.487 HGNC:37323 +HGNC:37324 PRSS44P serine protease 44, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 TESSP4 PRSS44 "protease, serine 44|serine protease 44" Serine proteases 738 2010-02-23 2019-01-31 2019-01-31 2020-06-15 729756 ENSG00000226074 OTTHUMG00000154622 NR_160551 MGI:1920586 RGD:1560940 S01.934 HGNC:37324 +HGNC:30717 PRSS45P serine protease 45, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 "TESSP5|TESPL" testis serine protease 5 PRSS45 "protease, serine 45|serine protease 45" Serine proteases 738 2009-11-06 2019-01-31 2019-01-31 2019-01-31 377047 ENSG00000188086 OTTHUMG00000133480 uc062jau.1 NR_160553 Q7RTY3 "12838346|20512923" MGI:3605764 RGD:1303021 HGNC:30717 +HGNC:37325 PRSS46P serine protease 46, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 TESSP6 PRSS46 "protease, serine 46|protease, serine 46, pseudogene" Serine proteases 738 2010-02-23 2017-10-18 2018-01-19 2020-06-15 100287362 ENSG00000261603 OTTHUMG00000177121 uc021wxf.2 NR_147121 E5RG02 MGI:1921556 RGD:1302970 HGNC:37325 +HGNC:37326 PRSS47P serine protease 47, pseudogene pseudogene pseudogene Approved 9q22.31 09q22.31 PRSS47 "protease, serine 47|serine protease 47" Serine proteases 738 2010-04-08 2021-07-14 2021-07-14 2021-07-14 138652 ENSG00000276717 NG_076102 A8MTI9 MGI:2685120 RGD:1592951 HGNC:37326 +HGNC:24635 PRSS48 serine protease 48 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 ESSPL protease, serine 48 Serine proteases 738 2009-11-06 2018-01-19 2018-01-19 345062 ENSG00000189099 OTTHUMG00000161673 uc011cif.3 BN000134 NM_183375 CCDS47145 Q7RTY5 12838346 MGI:2685865 RGD:11436036 HGNC:24635 +HGNC:17910 PRSS50 serine protease 50 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "TSP50|CT20" "cancer/testis antigen 20|testes specific protease 50" protease, serine 50 Serine proteases 738 2009-11-06 2018-01-19 2019-07-24 29122 ENSG00000283706 OTTHUMG00000164067 uc021wxe.4 AF100707 NM_013270 CCDS2745 Q9UI38 10397268 MGI:2447303 RGD:6499372 607950 HGNC:17910 "ENST00000315170.13|NM_013270.5" +HGNC:37321 PRSS51 serine protease 51 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 protease, serine 51 2012-08-24 2018-01-19 2018-01-19 346702 ENSG00000253649 OTTHUMG00000163805 uc010lru.3 XM_047422509 A0A1B0GVH4 MGI:1921465 RGD:6498506 +HGNC:37322 PRSS52P serine protease 52, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 protease, serine 52, pseudogene 2012-08-24 2018-01-19 2020-04-06 100419209 ENSG00000285237 NG_025997 MGI:1920632 PGOHUM00000249227 HGNC:37322 +HGNC:34407 PRSS53 serine protease 53 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 POL3S polyserase 3 protease, serine 53 Serine proteases 738 2010-04-13 2018-01-19 2018-01-19 339105 ENSG00000151006 OTTHUMG00000047358 uc002eaq.4 NM_001081268 CCDS42153 Q2L4Q9 16566820 MGI:2652890 RGD:1566127 610561 HGNC:34407 +HGNC:26336 PRSS54 serine protease 54 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ25339|KLKBL4|CT67" cancer/testis antigen 67 protease, serine 54 Serine proteases 738 2010-04-14 2018-01-19 2018-01-19 221191 ENSG00000103023 OTTHUMG00000173231 uc002enf.3 AK058068 NM_001080492 "CCDS76882|CCDS32463" Q6PEW0 17521433 MGI:1918243 RGD:1307877 HGNC:26336 "ENST00000567164.6|NM_001305173.2" +HGNC:30824 PRSS55 serine protease 55 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "T-SP1|UNQ9391|CT153" protease, serine 55 Serine proteases 738 2010-04-14 2018-01-19 2018-01-19 203074 ENSG00000184647 OTTHUMG00000129345 uc003wta.4 AY358867 NM_198464 "CCDS5976|CCDS56523" Q6UWB4 "12975309|18844450" MGI:1918287 RGD:1586875 615144 HGNC:30824 "ENST00000328655.8|NM_198464.4" +HGNC:39433 PRSS56 serine protease 56 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 protease, serine 56 Serine proteases 738 2011-03-15 2018-01-19 2021-05-26 646960 ENSG00000237412 OTTHUMG00000153326 uc021vyh.2 NM_001195129 CCDS74669 P0CW18 "21397065|21532570" MGI:1916703 RGD:1563955 613858 265147 S01.514 HGNC:39433 "ENST00000617714.2|NM_001195129.2" HGNC:39433 +HGNC:31397 PRSS57 serine protease 57 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 UNQ782 PRSSL1 "protease, serine-like 1|protease, serine 57" "Serine proteases|Granule associated serine proteases of immune defence" "738|1636" 2004-06-16 2011-03-07 2018-01-19 2018-01-19 400668 ENSG00000185198 OTTHUMG00000180662 uc002lpl.2 AY358594 NM_214710 "CCDS77203|CCDS12041" Q6UWY2 12975309 MGI:1920356 RGD:1303330 S01.319 HGNC:31397 "ENST00000329267.9|NM_001308209.2" +HGNC:39125 PRSS58 serine protease 58 protein-coding gene gene with protein product Approved 7q34 07q34 TRYX3 trypsin X3 protease, serine 58 Serine proteases 738 2011-03-10 2018-01-19 2018-01-19 136541 ENSG00000258223 OTTHUMG00000158565 uc003vxc.5 NM_001001317 CCDS5871 Q8IYP2 MGI:3608323 RGD:1303054 3.4.21.4 HGNC:39125 "ENST00000547058.6|NM_001001317.5" +HGNC:43791 PRSS59P serine protease 59, pseudogene pseudogene pseudogene Approved 7q34 07q34 "TRY2P|Tryx5" 2021-04-08 2021-04-08 207147 ENSG00000186163 OTTHUMG00000154634 NR_036483 MGI:1920731 PGOHUM00000302454 +HGNC:23333 PRTFDC1 phosphoribosyl transferase domain containing 1 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 HHGP 2003-11-10 2016-10-05 56952 ENSG00000099256 OTTHUMG00000017829 uc001ise.3 AF226056 NM_020200 "CCDS7145|CCDS60506" Q9NRG1 RGD:1310177 610751 HGNC:23333 "ENST00000320152.11|NM_020200.7" +HGNC:26373 PRTG protogenin protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "FLJ25756|IGDCC5" immunoglobulin superfamily, DCC subclass, member 5 protogenin homolog (Gallus gallus) "Fibronectin type III domain containing|I-set domain containing" "555|593" 2005-11-11 2010-06-24 2015-09-07 283659 ENSG00000166450 OTTHUMG00000172591 uc002adg.4 AK098622 NM_173814 CCDS42040 Q2VWP7 MGI:2444710 RGD:1307157 613261 HGNC:26373 "ENST00000389286.9|NM_173814.6" +HGNC:9495 PRTN3 proteinase 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PR-3|ACPA|C-ANCA|AGP7|MBT|P29" "myeloblastin|serine proteinase, neutrophil|Wegener granulomatosis autoantigen" Granule associated serine proteases of immune defence 1636 1992-08-24 2008-07-31 2020-04-01 5657 ENSG00000196415 OTTHUMG00000181838 uc002lqa.2 NM_002777 CCDS32860 P24158 2258701 MGI:893580 RGD:1304898 177020 118087 S01.134 objectId:2401 HGNC:9495 "ENST00000234347.10|NM_002777.4" +HGNC:13420 PRUNE1 prune exopolyphosphatase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "DRES-17|HTCD37|H-PRUNE" PRUNE prune homolog (Drosophila) 2004-11-16 2016-06-06 2017-02-10 2017-02-10 58497 ENSG00000143363 OTTHUMG00000035062 uc001ewh.2 U67085 NM_021222 "CCDS977|CCDS76211" Q86TP1 "10602478|11687967|18700747" MGI:1925152 RGD:1359521 617413 3.6.1.11 HGNC:13420 "ENST00000271620.8|NM_021222.3" HGNC:13420 +HGNC:25209 PRUNE2 prune homolog 2 with BCH domain protein-coding gene gene with protein product Approved 9q21.2 09q21.2 "BMCC1|BNIPXL|A214N16.3|bA214N16.3" olfaxin "C9orf65|KIAA0367" "chromosome 9 open reading frame 65|KIAA0367|prune homolog 2 (Drosophila)|prune homolog 2" BCH domain containing 1299 2004-01-06 2006-11-24 2018-11-15 2018-11-15 158471 ENSG00000106772 OTTHUMG00000020047 uc010mpk.4 BC019095 NM_138818 "CCDS47982|CCDS78407|CCDS83375" Q8WUY3 "16288218|24040105" MGI:1925004 RGD:1311350 610691 HGNC:25209 "ENST00000376718.8|NM_015225.3" +HGNC:39723 PRUNEP1 prune exopolyphosphatase pseudogene 1 pseudogene pseudogene Approved 13q12.13 13q12.13 prune homolog (Drosophila) pseudogene 1 2011-03-24 2013-08-28 2013-08-28 100129595 ENSG00000234706 OTTHUMG00000016615 NG_011454 PGOHUM00000248340 HGNC:39723 +HGNC:13797 PRX periaxin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 KIAA1620 PDZ domain containing 1220 2001-02-15 2021-04-13 57716 ENSG00000105227 OTTHUMG00000182597 uc002ons.4 AB046840 NM_020956 "CCDS12556|CCDS33028" Q9BXM0 "10839370|9143514" MGI:108176 RGD:619960 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_265|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_265.xml" 605725 118092 HGNC:13797 "ENST00000324001.8|NM_181882.3" HGNC:13797 +HGNC:28651 PRXL2A peroxiredoxin like 2A protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "MGC4248|PAMM|Adrx" "peroxiredoxin-like 2 activated in M-CSF stimulated monocytes|Adiporedoxin" "C10orf58|FAM213A" "chromosome 10 open reading frame 58|family with sequence similarity 213, member A" 2004-05-27 2018-07-19 2018-07-19 2018-07-19 84293 ENSG00000122378 OTTHUMG00000018614 uc001kcc.5 AF086462 NM_001243778 "CCDS7368|CCDS58089" Q9BRX8 "19951071|26438880|26629401|27941911" MGI:1917814 RGD:1309676 617165 HGNC:28651 "ENST00000606162.6|NM_032333.5" +HGNC:52407 PRXL2AP1 peroxiredoxin like 2A pseudogene 1 pseudogene pseudogene Approved 12q21.2 12q21.2 FAM213AP1 family with sequence similarity 213 member A pseudogene 1 2016-11-01 2018-07-23 2018-07-23 2018-07-23 100420900 ENSG00000257220 OTTHUMG00000170003 NG_024032 PGOHUM00000291409 HGNC:52407 +HGNC:52408 PRXL2AP2 peroxiredoxin like 2A pseudogene 2 pseudogene pseudogene Approved 8q21.11 08q21.11 FAM213AP2 family with sequence similarity 213 member A pseudogene 2 2016-11-01 2018-07-23 2018-07-23 2018-07-23 100131252 ENSG00000254213 OTTHUMG00000164917 NG_022394 PGOHUM00000303253 HGNC:52408 +HGNC:28390 PRXL2B peroxiredoxin like 2B protein-coding gene gene with protein product Approved 1p36.32 01p36.32 MGC26818 "prostamide/prostaglandin F synthase|thioredoxin-type PGF synthase" "C1orf93|FAM213B" "chromosome 1 open reading frame 93|family with sequence similarity 213, member B" 2005-05-31 2018-07-19 2018-07-19 2018-07-19 127281 ENSG00000157870 OTTHUMG00000000847 uc001aju.4 AK075273 NM_152371 "CCDS44|CCDS55564|CCDS72690|CCDS72691" Q8TBF2 "18006499|20950588" MGI:1913719 RGD:1308251 1.11.1.20 HGNC:28390 "ENST00000419916.8|NM_152371.5" +HGNC:16881 PRXL2C peroxiredoxin like 2C protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "C9orf21|AAED1" "chromosome 9 open reading frame 21|AhpC/TSA antioxidant enzyme domain containing 1" 2002-04-29 2018-07-19 2018-07-19 2018-07-19 195827 ENSG00000158122 OTTHUMG00000020299 uc004awm.4 BK000255 NM_153698 CCDS35073 Q7RTV5 MGI:1913379 RGD:1589650 HGNC:16881 "ENST00000375234.8|NM_153698.2" +HGNC:54977 PRXL2CP1 PRXL2C pseudogene 1 pseudogene pseudogene Approved Xq11.2 Xq11.2 2020-05-13 2020-05-13 650181 ENSG00000237963 NG_022606 +HGNC:14024 PRY PTPN13 like Y-linked protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 "PTPN13LY|PRY1" PTPN13-like, Y-linked 2001-09-21 2018-04-30 2018-04-30 9081 ENSG00000169789 OTTHUMG00000043845 uc004fvh.1 AF000988 NM_004676 CCDS14799 O14603 9381176 400019 HGNC:14024 "ENST00000303728.5|NM_004676.2" +HGNC:21504 PRY2 PTPN13 like Y-linked 2 protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 PTPN13LY2 PTPN13-like, Y-linked 2 2004-08-25 2018-04-30 2018-04-30 442862 ENSG00000169807 OTTHUMG00000043586 uc004fuy.1 NM_001002758 CCDS35482 O14603 15177557 400041 HGNC:21504 "ENST00000303804.5|NM_001002758.1" +HGNC:34018 PRYP1 PTPN13 like Y-linked pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 "PRYP7|PRY4P" "PTPN13-like, Y-linked pseudogene 7|PTPN13-like, Y-linked 4, pseudogene|PTPN13-like, Y-linked pseudogene 1" 2008-03-14 2018-04-30 2020-04-20 442863 ENSG00000224166 OTTHUMG00000041661 NG_004636 PGOHUM00000233759 HGNC:34018 +HGNC:34019 PRYP2 PTPN13 like Y-linked pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 PTPN13-like, Y-linked pseudogene 2 2008-03-14 2018-04-30 2018-04-30 442864 ENSG00000231311 OTTHUMG00000041960 NG_004636 PGOHUM00000233984 HGNC:34019 +HGNC:34020 PRYP3 PTPN13 like Y-linked pseudogene 3 pseudogene pseudogene Approved Yq11.223 Yq11.223 PTPN13-like, Y-linked pseudogene 3 2008-03-14 2018-04-30 2018-04-30 442865 ENSG00000169763 OTTHUMG00000044998 NG_004755 O14603 HGNC:34020 +HGNC:34021 PRYP4 PTPN13 like Y-linked pseudogene 4 pseudogene pseudogene Approved Yq11.23 Yq11.23 PTPN13-like, Y-linked pseudogene 4 2008-03-14 2018-04-30 2018-04-30 442866 ENSG00000172283 OTTHUMG00000045269 NG_004755 O14603 HGNC:34021 +HGNC:38785 PRYP5 PTPN13 like Y-linked pseudogene 5 pseudogene pseudogene Approved Yq11.222 Yq11.222 PTPN13-like, Y-linked pseudogene 5 2010-08-03 2018-04-30 2018-04-30 106478933 ENSG00000233546 OTTHUMG00000041977 NG_004636 PGOHUM00000233992 HGNC:38785 +HGNC:38786 PRYP6 PTPN13 like Y-linked pseudogene 6 pseudogene pseudogene Approved Yq11.222 Yq11.222 PTPN13-like, Y-linked pseudogene 6 2010-08-03 2018-04-30 2018-04-30 106480721 ENSG00000248573 OTTHUMG00000041959 NG_045496 PGOHUM00000233780 HGNC:38786 +HGNC:9498 PSAP prosaposin protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "variant Gaucher disease and variant metachromatic leukodystrophy|saposin-A|saposin-B|saposin-C|saposin-D" "SAP1|GLBA|SAP2" "sphingolipid activator protein-1|sphingolipid activator protein-2" Receptor ligands 542 1986-01-01 2008-07-31 2019-07-31 5660 ENSG00000197746 OTTHUMG00000018429 uc001jsm.5 BC004275 NM_002778 CCDS7311 P07602 2717620 MGI:97783 RGD:3423 176801 118095 ligandId:6067 HGNC:9498 "ENST00000394936.8|NM_002778.4" HGNC:9498 +HGNC:33131 PSAPL1 prosaposin like 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "prosaposin-like 1|prosaposin like 1 (gene/pseudogene)" 2006-09-18 2020-05-01 2020-05-01 768239 ENSG00000178597 OTTHUMG00000160006 uc011bwj.3 DQ991252 NM_001085382 CCDS47009 Q6NUJ1 20210993 MGI:1924193 RGD:1307368 HGNC:33131 "ENST00000319098.7|NM_001085382.2" +HGNC:19129 PSAT1 phosphoserine aminotransferase 1 protein-coding gene gene with protein product Approved 9q21.2 09q21.2 "PSA|PSAT" phosphoserine transaminase 2003-05-19 2021-05-26 29968 ENSG00000135069 OTTHUMG00000020066 uc004ala.5 BC004863 NM_021154 "CCDS6660|CCDS6659" Q9Y617 "12633500|3651428" MGI:2183441 RGD:735170 610936 159912 2.6.1.52 HGNC:19129 "ENST00000376588.4|NM_058179.4" HGNC:19129 +HGNC:15785 PSAT1P1 phosphoserine aminotransferase 1 pseudogene 1 pseudogene pseudogene Approved 8q11.21 08q11.21 similar to phosphoserine aminotransferase isoform 1 C8orf62 chromosome 8 open reading frame 62 2005-09-22 2010-06-03 2010-06-03 2014-11-19 137133 ENSG00000253810 OTTHUMG00000164212 NG_009632 PGOHUM00000260401 HGNC:15785 +HGNC:43988 PSAT1P2 phosphoserine aminotransferase 1 pseudogene 2 pseudogene pseudogene Approved 2p15 02p15 2012-05-23 2014-11-19 107133519 ENSG00000232144 OTTHUMG00000152522 NG_046678 PGOHUM00000240063 HGNC:43988 +HGNC:43989 PSAT1P3 phosphoserine aminotransferase 1 pseudogene 3 pseudogene pseudogene Approved 1p31.1 01p31.1 2012-05-23 2014-11-19 729779 ENSG00000230787 OTTHUMG00000009740 NG_022726 PGOHUM00000244078 HGNC:43989 +HGNC:43990 PSAT1P4 phosphoserine aminotransferase 1 pseudogene 4 pseudogene pseudogene Approved 3q26.1 03q26.1 2012-05-23 2014-11-19 100287630 ENSG00000224962 OTTHUMG00000158210 NG_022280 PGOHUM00000238254 HGNC:43990 +HGNC:9500 PSCA prostate stem cell antigen protein-coding gene gene with protein product Approved 8q24.3 08q24.3 lncPSCA LY6/PLAUR domain containing 1226 1999-08-25 2021-09-22 8000 ENSG00000167653 OTTHUMG00000162077 uc003ywu.4 AF043498 NM_005672 CCDS47925 O43653 9465086 MGI:1919623 RGD:1594221 602470 HGNC:9500 "ENST00000301258.5|NM_005672.5" +HGNC:9507 PSD pleckstrin and Sec7 domain containing protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "KIAA2011|TYL|PSD1|EFA6A|EFA6" pleckstrin and Sec7 domain protein "Pleckstrin homology domain containing|Pleckstrin and Sec7 domain containing" "682|1948" 1997-08-18 2004-04-28 2016-10-05 5662 ENSG00000059915 OTTHUMG00000018954 uc009xxd.2 X99688 NM_001270965 "CCDS73187|CCDS31272" A5PKW4 9417912 MGI:1920978 RGD:620297 602327 HGNC:9507 "ENST00000020673.6|NM_002779.5" +HGNC:19092 PSD2 pleckstrin and Sec7 domain containing 2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "DKFZp761B0514|EFA6C" "Pleckstrin homology domain containing|Pleckstrin and Sec7 domain containing" "682|1948" 2004-07-02 2016-10-05 84249 ENSG00000146005 OTTHUMG00000129240 uc003leu.2 AL136559 NM_032289 CCDS4216 Q9BQI7 MGI:1921252 RGD:1311075 HGNC:19092 "ENST00000274710.4|NM_032289.4" +HGNC:52765 PSD2-AS1 PSD2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 Antisense RNAs 1987 2016-12-08 2016-12-08 101929696 ENSG00000249131 OTTHUMG00000163335 NR_105052 HGNC:52765 +HGNC:19093 PSD3 pleckstrin and Sec7 domain containing 3 protein-coding gene gene with protein product Approved 8p22 08p22 "KIAA0942|HCA67|EFA6R|DKFZp761K1423|EFA6D" "Pleckstrin homology domain containing|Pleckstrin and Sec7 domain containing" "682|1948" 2004-07-06 2016-10-05 23362 ENSG00000156011 OTTHUMG00000163711 uc003wyy.4 AF243495 NM_015310 "CCDS34854|CCDS43720" Q9NYI0 MGI:1918215 RGD:1559968 614440 HGNC:19093 "ENST00000327040.13|NM_015310.4" HGNC:19093 +HGNC:19096 PSD4 pleckstrin and Sec7 domain containing 4 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "TIC|EFA6B" "Pleckstrin homology domain containing|Pleckstrin and Sec7 domain containing" "682|1948" 2004-07-02 2016-10-05 23550 ENSG00000125637 OTTHUMG00000153339 uc002tjc.4 U63127 NM_012455 CCDS33276 Q8NDX1 12082148 MGI:2674093 RGD:1310289 614442 HGNC:19096 "ENST00000245796.11|NM_012455.3" +HGNC:9508 PSEN1 presenilin 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "FAD|S182|PS1" AD3 Alzheimer disease 3 Peptidase family A22 2099 1992-11-05 2008-07-28 2021-04-13 5663 ENSG00000080815 OTTHUMG00000141279 uc001xnr.4 AJ008005 NM_000021 "CCDS9812|CCDS9813" P49768 1411576 MGI:1202717 RGD:3425 "Alzheimer Disease & Frontotemporal Dementia Mutation Database|http://www.molgen.ua.ac.be/ADMutations/|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_224|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_224.xml" 104311 118099 A22.001 objectId:2402 HGNC:9508 "ENST00000324501.10|NM_000021.4" HGNC:9508 +HGNC:9509 PSEN2 presenilin 2 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "AD3L|STM2|PS2" AD4 Alzheimer disease 4 Peptidase family A22 2099 1995-08-30 2014-02-24 2021-04-13 5664 ENSG00000143801 OTTHUMG00000037563 uc009xeo.2 BC006365 NM_000447 "CCDS44324|CCDS1556" P49810 7638621 MGI:109284 RGD:621060 "Alzheimer Disease & Frontotemporal Dementia Mutation Database|http://www.molgen.ua.ac.be/ADMutations/|LRG_225|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_225.xml" 600759 118105 A22.002 objectId:2403 HGNC:9509 "ENST00000366783.8|NM_000447.3" HGNC:9509 +HGNC:30100 PSENEN presenilin enhancer, gamma-secretase subunit protein-coding gene gene with protein product Approved 19q13.12 19q13.12 PEN2 presenilin enhancer 2 homolog (C. elegans) 2005-02-08 2018-04-23 2021-04-13 55851 ENSG00000205155 OTTHUMG00000182067 uc002obi.3 AF220053 NM_172341 CCDS12474 Q9NZ42 "12110170|12660785" MGI:1913590 RGD:1312037 LRG_222|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_222.xml 607632 268351 HGNC:30100 "ENST00000587708.7|NM_172341.4" HGNC:30100 +HGNC:9514 PSG1 pregnancy specific beta-1-glycoprotein 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PSGGA|CD66f|PBG1" PSBG1 "CD molecules|V-set domain containing|Pregnancy specific glycoproteins" "471|590|1315" 1989-06-30 2015-09-07 5669 ENSG00000231924 OTTHUMG00000151123 uc002ovd.1 NM_001184825 "CCDS12612|CCDS54275|CCDS59392|CCDS74380|CCDS82360" P11464 "MGI:1347245|MGI:1347246" 176390 CD66f HGNC:9514 "ENST00000436291.7|NM_001184825.2" +HGNC:9519 PSG2 pregnancy specific beta-1-glycoprotein 2 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "PSGGB|PSG1|CEA" "pregnancy-specific beta-1 glycoprotein|pregnancy-specific beta-1-glycoprotein 7|carcinoembryonic antigen SG8" PSBG2 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-06-06 2016-10-05 5670 ENSG00000242221 OTTHUMG00000151547 uc002ovr.4 NM_031246 CCDS12616 P11465 2377620 "MGI:1347245|MGI:1347246|MGI:1347247" 176391 HGNC:9519 "ENST00000406487.6|NM_031246.4" +HGNC:9520 PSG3 pregnancy specific beta-1-glycoprotein 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2015-09-07 5671 ENSG00000221826 OTTHUMG00000151120 uc002oue.4 NM_021016 CCDS12611 Q16557 2341148 "MGI:1347245|MGI:1347246" 176392 HGNC:9520 "ENST00000327495.10|NM_021016.4" +HGNC:9521 PSG4 pregnancy specific beta-1-glycoprotein 4 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 pregnancy-specific beta-1-glycoprotein 4 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2016-10-05 5672 ENSG00000243137 OTTHUMG00000151544 uc002ovy.4 NM_213633 "CCDS46093|CCDS62695|CCDS33039" Q00888 2783133 "MGI:1347245|MGI:1347246" 176393 HGNC:9521 "ENST00000405312.8|NM_002780.5" +HGNC:9522 PSG5 pregnancy specific beta-1-glycoprotein 5 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "FL-NCA-3|PSG" "pregnancy-specific beta-1 glycoprotein|pregnancy-specific beta 1 glycoprotein" "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2016-10-05 5673 ENSG00000204941 OTTHUMG00000151539 uc060zka.1 NM_002781 CCDS12617 Q15238 2735907 "MGI:1347245|MGI:1347246|MGI:1347247" 176394 HGNC:9522 "ENST00000342951.11|NM_002781.4" +HGNC:9523 PSG6 pregnancy specific beta-1-glycoprotein 6 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-10-16 2016-10-05 5675 ENSG00000170848 OTTHUMG00000151127 uc060zix.1 NM_002782 "CCDS33038|CCDS12613" Q00889 1690992 "MGI:1347245|MGI:1347246" 176395 HGNC:9523 "ENST00000187910.7|NM_001031850.4" +HGNC:9524 PSG7 pregnancy specific beta-1-glycoprotein 7 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) Pregnancy specific glycoproteins 1315 1991-09-13 2020-05-01 2020-05-01 5676 ENSG00000221878 OTTHUMG00000151125 uc060zja.1 NM_001206650 CCDS77310 Q13046 1572651 176396 HGNC:9524 "ENST00000406070.7|NM_002783.3" +HGNC:9525 PSG8 pregnancy specific beta-1-glycoprotein 8 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2015-09-07 440533 ENSG00000124467 OTTHUMG00000151118 uc002ouo.2 M74106 NM_001130167 "CCDS33037|CCDS46090|CCDS46091" Q9UQ74 "1672663|1572651" "MGI:1347245|MGI:1347246" 176397 HGNC:9525 "ENST00000306511.5|NM_182707.3" +HGNC:52550 PSG8-AS1 PSG8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 Antisense RNAs 1987 2016-11-08 2016-11-08 100289650 ENSG00000225877 OTTHUMG00000151551 NR_036584 HGNC:52550 +HGNC:9526 PSG9 pregnancy specific beta-1-glycoprotein 9 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 PSGII PSG11 "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2016-10-05 5678 ENSG00000183668 OTTHUMG00000182826 uc002owd.5 M34481 NM_002784 "CCDS77311|CCDS77312|CCDS12618|CCDS77314" Q00887 7806221 "MGI:1347245|MGI:1347246" 176398 HGNC:9526 "ENST00000270077.8|NM_002784.5" +HGNC:9515 PSG10P pregnancy specific beta-1-glycoprotein 10, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 "pregnancy specific beta-1-glycoprotein 12|pregnancy specific beta-1-glycoprotein 120" "PSG12|PSG10" pregnancy specific beta-1-glycoprotein 10 Pregnancy specific glycoproteins 1315 1992-04-09 2010-12-20 2010-12-20 2014-11-19 653492 ENSG00000248257 OTTHUMG00000151550 L14724 XR_016855 1572651 176399 HGNC:9515 +HGNC:9516 PSG11 pregnancy specific beta-1-glycoprotein 11 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 MGC22484 pregnancy specific beta-1-glycoprotein 13 "PSG13|PSG14" "V-set domain containing|Pregnancy specific glycoproteins" "590|1315" 1991-09-13 2016-10-05 5680 ENSG00000243130 OTTHUMG00000151546 uc002ovm.2 U25988 NM_002785 "CCDS12615|CCDS12614" Q9UQ72 7794280 "MGI:1347245|MGI:1347246|MGI:1347247" 176401 HGNC:9516 "ENST00000320078.12|NM_002785.3" +HGNC:9527 PSIP1 PC4 and SFRS1 interacting protein 1 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 "p52|LEDGF|p75|DFS70" lens epithelium-derived growth factor PSIP2 PC4 and SFRS1 interacting protein 2 Heparin binding growth factor family 1418 1999-09-07 2004-02-24 2020-11-17 11168 ENSG00000164985 OTTHUMG00000021021 uc003zlv.6 AF098482 NM_033222 "CCDS6479|CCDS83348|CCDS6480" O75475 "9822615|9885563" MGI:2142116 RGD:631439 PSIP1 603620 HGNC:9527 "ENST00000380733.9|NM_033222.5" +HGNC:31132 PSIP1P1 PC4 and SFRS1 interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 9p22.3 09p22.3 PSIP1P PC4 and SFRS1 interacting protein 1 pseudogene 2004-02-24 2010-02-15 2010-02-15 2020-04-07 353329 ENSG00000234297 OTTHUMG00000019580 AL592293 NG_002792 HGNC:31132 +HGNC:23968 PSIP1P2 PC4 and SFRS1 interacting protein 1 pseudogene 2 pseudogene pseudogene Approved Yq11 Yq11 2010-02-15 2010-02-15 360022 NG_002938 12815422 HGNC:23968 +HGNC:9529 PSKH1 protein serine kinase H1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 1993-08-04 2021-03-08 5681 ENSG00000159792 OTTHUMG00000137548 uc002euv.3 M14504 NM_006742 CCDS10851 P11801 "8268911|11087665|14644153" MGI:3528383 RGD:1304648 177015 objectId:2178 HGNC:9529 "ENST00000291041.6|NM_006742.3" +HGNC:18997 PSKH2 protein serine kinase H2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 2004-06-03 2016-11-01 85481 ENSG00000147613 OTTHUMG00000163638 uc011lfy.3 AY037806 NM_033126 CCDS6240 Q96QS6 objectId:2179 HGNC:18997 "ENST00000276616.3|NM_033126.3" +HGNC:54405 PSLNR prostate enriched lncRNA non-coding RNA RNA, long non-coding Approved 22q11.1 22q11.1 LA16c-83F12.6 prostate-specific lncRNA Long non-coding RNAs with non-systematic symbols 1992 2019-07-11 2019-07-11 106146148 ENSG00000225255 NR_132385 31269242 HGNC:54405 +HGNC:9530 PSMA1 proteasome 20S subunit alpha 1 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "HC2|NU|PROS30|MGC14542|MGC14575|MGC14751|MGC1667|MGC21459|MGC22853|MGC23915" proteasome subunit α6 "proteasome (prosome, macropain) subunit, alpha type, 1|proteasome subunit alpha 1" Proteasome 690 1995-05-03 2019-08-29 2019-08-30 5682 ENSG00000129084 OTTHUMG00000165825 uc001mlk.4 X61969 NM_002786 "CCDS31431|CCDS7816" P25786 "1398136|2025653" MGI:1347005 RGD:61841 602854 HGNC:9530 "ENST00000396394.7|NM_002786.4" +HGNC:55003 PSMA1P1 PSMA1 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-05-20 2020-05-20 100422286 ENSG00000225715 NG_026855 +HGNC:9531 PSMA2 proteasome 20S subunit alpha 2 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "MU|HC3|PMSA2" "proteasome (prosome, macropain) subunit, alpha type, 2|proteasome subunit alpha 2" Proteasome 690 1995-05-03 2019-08-29 2019-08-29 5683 ENSG00000106588 OTTHUMG00000023916 uc003thy.5 D00760 NM_002787 CCDS5467 P25787 "2025653|1888762" MGI:104885 RGD:61842 176842 T01.972 HGNC:9531 "ENST00000223321.9|NM_002787.5" +HGNC:43832 PSMA2P1 proteasome subunit alpha 2 pseudogene 1 pseudogene pseudogene Approved 11q14.2 11q14.2 proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 1 2012-03-23 2016-04-04 2016-04-04 100130923 ENSG00000254582 OTTHUMG00000167250 NG_021795 PGOHUM00000242400 HGNC:43832 +HGNC:43833 PSMA2P2 proteasome subunit alpha 2 pseudogene 2 pseudogene pseudogene Approved 8q22.1 08q22.1 proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 2 2012-03-23 2016-04-04 2016-04-04 100131775 ENSG00000251234 OTTHUMG00000160491 NG_022397 PGOHUM00000249431 HGNC:43833 +HGNC:43834 PSMA2P3 proteasome subunit alpha 2 pseudogene 3 pseudogene pseudogene Approved 2q33.1 02q33.1 PSMA2L proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 3 2012-03-23 2016-04-04 2016-04-04 79055 ENSG00000227890 OTTHUMG00000154579 NG_032680 PGOHUM00000241073 HGNC:43834 +HGNC:9532 PSMA3 proteasome 20S subunit alpha 3 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 HC8 proteasome subunit α7 "proteasome (prosome, macropain) subunit, alpha type, 3|proteasome subunit alpha 3" Proteasome 690 1995-05-03 2019-08-29 2019-08-30 5684 ENSG00000100567 OTTHUMG00000140319 uc001xdj.3 NM_002788 "CCDS45113|CCDS9731" P25788 "2025653|8811196" MGI:104883 RGD:61844 176843 470916 T01.977 HGNC:9532 "ENST00000216455.9|NM_002788.4" +HGNC:26445 PSMA3-AS1 PSMA3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.1 14q23.1 FLJ31306 Antisense RNAs 1987 2014-11-20 2014-11-20 379025 ENSG00000257621 OTTHUMG00000171179 NR_029434 25392693 PSMA3-AS1 HGNC:26445 +HGNC:20029 PSMA3P1 proteasome subunit alpha 3 pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 PSMA3P proteasome (prosome, macropain) subunit, alpha type, 3 pseudogene 2003-01-13 2020-04-07 2020-04-07 2020-04-07 326617 ENSG00000258563 OTTHUMG00000171126 NG_002607 PGOHUM00000248194 HGNC:20029 +HGNC:9533 PSMA4 proteasome 20S subunit alpha 4 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "HC9|HsT17706" proteasome subunit α3 "proteasome (prosome, macropain) subunit, alpha type, 4|proteasome subunit alpha 4" Proteasome 690 1995-05-03 2019-08-29 2019-08-30 5685 ENSG00000041357 OTTHUMG00000143859 uc002bdu.5 BC005361 NM_002789 "CCDS86479|CCDS45319|CCDS10303|CCDS86478" P25789 2025653 MGI:1347060 RGD:61846 176846 T01.973 HGNC:9533 "ENST00000044462.12|NM_002789.6" +HGNC:9534 PSMA5 proteasome 20S subunit alpha 5 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 ZETA "proteasome (prosome, macropain) subunit, alpha type, 5|proteasome subunit alpha 5" Proteasome 690 1995-05-03 2019-08-29 2019-08-29 5686 ENSG00000143106 OTTHUMG00000012001 uc001dxn.4 X61970 NM_002790 "CCDS799|CCDS55619" P28066 1888762 MGI:1347009 RGD:61848 176844 T01.975 HGNC:9534 "ENST00000271308.9|NM_002790.4" +HGNC:54966 PSMA5P1 PSMA5 pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 2020-05-13 2020-05-13 117751738 ENSG00000235136 NG_070704 +HGNC:9535 PSMA6 proteasome 20S subunit alpha 6 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "IOTA|PROS27|p27K|MGC22756|MGC2333|MGC23846" proteasome subunit α1 "proteasome (prosome, macropain) subunit, alpha type, 6|proteasome subunit alpha 6" Proteasome 690 1995-05-03 2019-08-29 2019-08-30 5687 ENSG00000100902 OTTHUMG00000140221 uc010tpt.4 X59417 NM_001282232 "CCDS61437|CCDS61438|CCDS9655" P60900 "1888762|8811196" MGI:1347006 RGD:61849 602855 T01.971 HGNC:9535 "ENST00000261479.9|NM_002791.3" +HGNC:17460 PSMA6P1 proteasome subunit alpha 6 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 "PSMA6-LIKE|PSMA6Y" PSMA6P "proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene|proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 1" 2003-02-11 2010-05-05 2016-04-04 2016-04-04 64596 ENSG00000215414 OTTHUMG00000036322 AC010877 NG_002321 9847074 PGOHUM00000233960 HGNC:17460 +HGNC:39607 PSMA6P2 proteasome subunit alpha 6 pseudogene 2 pseudogene pseudogene Approved Xp22.2 Xp22.2 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 2 2011-03-17 2016-04-04 2016-04-04 729412 ENSG00000229083 OTTHUMG00000021140 NG_023174 HGNC:39607 +HGNC:39608 PSMA6P3 proteasome subunit alpha 6 pseudogene 3 pseudogene pseudogene Approved 21q22.3 21q22.3 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 3 2011-03-17 2016-04-04 2016-04-04 100874510 ENSG00000233767 OTTHUMG00000090441 NG_032329 PGOHUM00000239097 HGNC:39608 +HGNC:39609 PSMA6P4 proteasome subunit alpha 6 pseudogene 4 pseudogene pseudogene Approved 13q32.1 13q32.1 proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 4 2011-03-17 2016-04-04 2016-04-04 121906 ENSG00000271625 OTTHUMG00000184875 NG_023173 PGOHUM00000248668 HGNC:39609 +HGNC:9536 PSMA7 proteasome 20S subunit alpha 7 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "XAPC7|C6|HSPC|RC6-1" "proteasome subunit XAPC7|proteasome subunit RC6-1|proteasome subunit α4" "proteasome (prosome, macropain) subunit, alpha type, 7|proteasome subunit alpha 7" Proteasome 690 1995-11-22 2019-08-29 2019-08-30 5688 ENSG00000101182 OTTHUMG00000032895 uc002ybx.3 AF022815 NM_002792 CCDS13489 O14818 8764072 MGI:1347070 RGD:61851 606607 T01.979 HGNC:9536 "ENST00000370873.9|NM_002792.4" +HGNC:20631 PSMA7P1 proteasome subunit alpha 7 pseudogene 1 pseudogene pseudogene Approved 9q22.31 09q22.31 PSMA7P proteasome (prosome, macropain) subunit, alpha type, 7 pseudogene 2003-03-10 2020-04-07 2020-04-07 2020-04-20 117134610 AL354861 NG_068147 HGNC:20631 +HGNC:22985 PSMA8 proteasome 20S subunit alpha 8 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "MGC26605|PSMA7L" "proteasome (prosome, macropain) subunit, alpha type, 8|proteasome subunit alpha 8" Proteasome 690 2005-01-14 2019-08-29 2019-08-29 143471 ENSG00000154611 OTTHUMG00000179426 uc002kvq.4 BC047355 NM_144662 "CCDS32808|CCDS45842|CCDS77169|CCDS45843" Q8TAA3 MGI:1920927 RGD:1311659 617841 T01.974 HGNC:22985 "ENST00000415576.7|NM_001025096.2" +HGNC:9537 PSMB1 proteasome 20S subunit beta 1 protein-coding gene gene with protein product Approved 6q27 06q27 "PMSB1|HC5" proteasome subunit β6 "proteasome (prosome, macropain) subunit, beta type, 1|proteasome subunit beta 1" Proteasome 690 1995-05-03 2019-08-29 2019-08-30 5689 ENSG00000008018 OTTHUMG00000016087 uc011ehe.3 D00761 NM_002793 CCDS34577 P20618 2025653 MGI:104884 RGD:621092 602017 T01.986 objectId:2404 HGNC:9537 "ENST00000262193.7|NM_002793.4" +HGNC:9539 PSMB2 proteasome 20S subunit beta 2 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 HC7-I proteasome subunit β4 "proteasome (prosome, macropain) subunit, beta type, 2|proteasome subunit beta 2" Proteasome 690 1995-05-03 2019-08-29 2019-08-30 5690 ENSG00000126067 OTTHUMG00000004169 uc001bzf.4 D26599 NM_002794 "CCDS72755|CCDS394" P49721 7918633 MGI:1347045 RGD:61874 602175 T01.984 objectId:2405 HGNC:9539 "ENST00000373237.4|NM_002794.5" +HGNC:9540 PSMB3 proteasome 20S subunit beta 3 protein-coding gene gene with protein product Approved 17q12 17q12 "HC10-II|MGC4147" "proteasome (prosome, macropain) subunit, beta type, 3|proteasome subunit beta 3" Proteasome 690 1995-05-03 2019-08-29 2019-08-29 5691 ENSG00000277791 OTTHUMG00000188503 uc032glv.2 BC013008 NM_002795 CCDS11328 P49720 7918633 MGI:1347014 RGD:61875 602176 T01.983 HGNC:9540 "ENST00000619426.5|NM_002795.4" +HGNC:20633 PSMB3P1 proteasome subunit beta 3 pseudogene 1 pseudogene pseudogene Approved 12q13.2 12q13.2 PSMB3P proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 2003-03-12 2016-04-04 2016-04-04 2020-04-07 121131 ENSG00000258907 OTTHUMG00000170893 AC009779 NG_001533 PGOHUM00000291357 T01.P02 HGNC:20633 +HGNC:30150 PSMB3P2 proteasome subunit beta 3 pseudogene 2 pseudogene pseudogene Approved 2q35 02q35 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 2 2007-07-31 2016-04-04 2016-04-04 130700 ENSG00000235444 OTTHUMG00000155343 NG_001538 9847074 PGOHUM00000250449 T01.P03 HGNC:30150 +HGNC:9541 PSMB4 proteasome 20S subunit beta 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "HN3|PROS26" proteasome subunit β7 "proteasome (prosome, macropain) subunit, beta type, 4|proteasome subunit beta 4" Proteasome 690 1995-05-03 2019-08-29 2019-08-30 5692 ENSG00000159377 OTTHUMG00000012494 uc001eyc.2 D26600 NM_002796 CCDS996 P28070 7918633 MGI:1098257 RGD:61877 602177 470918 T01.987 HGNC:9541 "ENST00000290541.7|NM_002796.3" HGNC:9541 +HGNC:9542 PSMB5 proteasome 20S subunit beta 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 MB1 proteasome subunit X "proteasome (prosome, macropain) subunit, beta type, 5|proteasome subunit beta 5" Proteasome 690 1995-05-03 2019-08-29 2019-08-29 5693 ENSG00000100804 OTTHUMG00000028713 uc001wii.3 D29011 NM_002797 "CCDS9584|CCDS45084|CCDS45083" P28074 "8066462|8811196" MGI:1194513 RGD:61879 600306 objectId:2406 HGNC:9542 "ENST00000361611.11|NM_002797.5" +HGNC:9543 PSMB6 proteasome 20S subunit beta 6 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "Y|DELTA" proteasome subunit β1 "proteasome (prosome, macropain) subunit, beta type, 6|proteasome subunit beta 6" Proteasome 690 1995-05-03 2019-08-29 2019-08-30 5694 ENSG00000142507 OTTHUMG00000090777 uc002fzb.4 BC000835 NM_002798 "CCDS11056|CCDS73944" P28072 "8066462|1888762" MGI:104880 RGD:61881 600307 T01.010 objectId:2407 HGNC:9543 "ENST00000270586.8|NM_002798.3" +HGNC:9544 PSMB7 proteasome 20S subunit beta 7 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 Z proteasome subunit β2 "proteasome (prosome, macropain) subunit, beta type, 7|proteasome subunit beta 7" Proteasome 690 1995-11-22 2019-08-29 2019-09-11 5695 ENSG00000136930 OTTHUMG00000021042 uc004boj.5 AJ420455 NM_002799 CCDS6855 Q99436 8811196 MGI:107637 RGD:621093 604030 T01.011 HGNC:9544 "ENST00000259457.8|NM_002799.4" +HGNC:49192 PSMB7P1 PSMB7 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 2013-09-26 2013-09-26 100422289 ENSG00000259074 OTTHUMG00000170785 NG_027332 PGOHUM00000248039 HGNC:49192 +HGNC:9545 PSMB8 proteasome 20S subunit beta 8 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "RING10|D6S216E|PSMB5i|beta5i" proteasome subunit β5i LMP7 "proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)|large multifunctional peptidase 7|proteasome (prosome, macropain) subunit, beta type, 8|proteasome subunit beta 8" Proteasome 690 1992-06-25 2019-08-29 2021-04-13 5696 ENSG00000204264 OTTHUMG00000031285 uc003oce.4 NM_148919 "CCDS4757|CCDS4756" P28062 "1529427|10329130" MGI:1346527 RGD:3426 LRG_1328|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1328.xml 177046 258610 T01.015 objectId:2408 HGNC:9545 "ENST00000374882.8|NM_148919.4" HGNC:9545 +HGNC:39758 PSMB8-AS1 PSMB8 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 "XXbac-BPG246D15.8|TAP1-AS1" TAPSAR1 TAP1 and PSMB8 antisense RNA 1 Antisense RNAs 1987 2013-07-25 2014-06-09 2014-06-09 2020-03-12 100507463 ENSG00000204261 OTTHUMG00000140123 NR_037173 32151711 PSMB8-AS1 HGNC:39758 +HGNC:9546 PSMB9 proteasome 20S subunit beta 9 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "RING12|beta1i|PSMB6i" proteasome subunit β1i LMP2 "proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)|large multifunctional peptidase 2|proteasome (prosome, macropain) subunit, beta type, 9|proteasome subunit beta 9" Proteasome 690 1991-12-18 2019-08-29 2019-08-30 5698 ENSG00000240065 OTTHUMG00000031287 uc063wzi.1 NM_002800 CCDS4759 P28065 "1922385|1529427" MGI:1346526 RGD:3427 177045 470920 T01.013 objectId:2409 HGNC:9546 "ENST00000374859.3|NM_002800.5" HGNC:9546 +HGNC:9538 PSMB10 proteasome 20S subunit beta 10 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "LMP10|MGC1665|beta2i" proteasome subunit β2i MECL1 "proteasome (prosome, macropain) subunit, beta type, 10|proteasome subunit beta 10" Proteasome 690 1993-07-29 2019-08-29 2019-08-30 5699 ENSG00000205220 OTTHUMG00000137553 uc002eux.3 Y13640 NM_002801 CCDS10853 P40306 8268911 MGI:1096380 RGD:1307428 176847 T01.014 HGNC:9538 "ENST00000358514.9|NM_002801.4" +HGNC:31963 PSMB11 proteasome subunit beta 11 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 beta5t proteasome (prosome, macropain) subunit, beta type, 11 2008-01-21 2016-04-04 2019-08-29 122706 ENSG00000222028 OTTHUMG00000170279 uc010ake.2 NM_001099780 CCDS41923 A5LHX3 17540904 MGI:1921152 RGD:1308773 611137 T01.016 HGNC:31963 "ENST00000408907.5|NM_001099780.2" +HGNC:9547 PSMC1 proteasome 26S subunit, ATPase 1 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "S4|p56|RPT2" proteasome (prosome, macropain) 26S subunit, ATPase, 1 "AAA ATPases|Proteasome" "413|690" 1995-11-27 2015-08-12 2021-02-09 5700 ENSG00000100764 OTTHUMG00000171019 uc001xyf.4 L02426 NM_002802 "CCDS32139|CCDS81837" P62191 9473509 MGI:106054 RGD:621097 602706 HGNC:9547 "ENST00000261303.13|NM_002802.3" +HGNC:30147 PSMC1P1 proteasome 26S subunit, ATPase 1 pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 bcm3415 PSMC1P "proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene|proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 1" 2004-06-28 2011-03-29 2016-04-04 2016-04-04 151645 ENSG00000241506 OTTHUMG00000158743 NG_001556 PGOHUM00000238055 HGNC:30147 +HGNC:39777 PSMC1P2 proteasome 26S subunit, ATPase 1 pseudogene 2 pseudogene pseudogene Approved 7p15.2 07p15.2 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 2 2011-03-29 2016-04-04 2016-04-04 442291 ENSG00000213781 OTTHUMG00000152713 NG_008641 PGOHUM00000233159 HGNC:39777 +HGNC:39778 PSMC1P3 proteasome 26S subunit, ATPase 1 pseudogene 3 pseudogene pseudogene Approved 7q33 07q33 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 3 2011-03-29 2016-04-04 2016-04-04 392100 ENSG00000231244 OTTHUMG00000155634 NG_009401 HGNC:39778 +HGNC:39779 PSMC1P4 proteasome 26S subunit, ATPase 1 pseudogene 4 pseudogene pseudogene Approved 5q11.2 05q11.2 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 4 2011-03-29 2016-04-04 2016-04-04 345645 ENSG00000248781 OTTHUMG00000162303 NG_022936 HGNC:39779 +HGNC:39780 PSMC1P5 proteasome 26S subunit, ATPase 1 pseudogene 5 pseudogene pseudogene Approved 5q21.3 05q21.3 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 5 2011-03-29 2016-04-04 2016-04-04 106480732 ENSG00000250273 OTTHUMG00000162813 NG_045212 PGOHUM00000235723 HGNC:39780 +HGNC:39781 PSMC1P6 proteasome 26S subunit, ATPase 1 pseudogene 6 pseudogene pseudogene Approved 3p11.2 03p11.2 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 6 2011-03-29 2016-04-04 2016-04-04 643766 ENSG00000240255 OTTHUMG00000159001 NG_022211 PGOHUM00000237673 HGNC:39781 +HGNC:39782 PSMC1P7 proteasome 26S subunit, ATPase 1 pseudogene 7 pseudogene pseudogene Approved 3q26.1 03q26.1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 7 2011-03-29 2016-04-04 2016-04-04 646085 ENSG00000243838 OTTHUMG00000159070 NG_022226 HGNC:39782 +HGNC:39783 PSMC1P8 proteasome 26S subunit, ATPase 1 pseudogene 8 pseudogene pseudogene Approved 12p12.3 12p12.3 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 8 2011-03-29 2016-04-04 2016-04-04 390297 ENSG00000256896 OTTHUMG00000168806 NG_021683 HGNC:39783 +HGNC:39784 PSMC1P9 proteasome 26S subunit, ATPase 1 pseudogene 9 pseudogene pseudogene Approved 12p12.3 12p12.3 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 9 2011-03-29 2016-04-04 2016-04-04 643668 ENSG00000255993 OTTHUMG00000168910 NG_050635 PGOHUM00000239696 HGNC:39784 +HGNC:39785 PSMC1P10 proteasome 26S subunit, ATPase 1 pseudogene 10 pseudogene pseudogene Approved 2p24.2 02p24.2 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 10 2011-03-29 2016-04-04 2016-04-04 388925 ENSG00000236348 OTTHUMG00000151763 NG_021557 PGOHUM00000240588 HGNC:39785 +HGNC:39786 PSMC1P11 proteasome 26S subunit, ATPase 1 pseudogene 11 pseudogene pseudogene Approved 6p25.1 06p25.1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 11 2011-03-29 2016-04-04 2016-04-04 442153 ENSG00000217385 OTTHUMG00000014167 NG_022341 PGOHUM00000243476 HGNC:39786 +HGNC:39787 PSMC1P12 proteasome 26S subunit, ATPase 1 pseudogene 12 pseudogene pseudogene Approved 1p12 01p12 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 12 2011-03-29 2016-04-04 2016-04-04 644094 ENSG00000226126 OTTHUMG00000012013 NG_022737 PGOHUM00000244161 HGNC:39787 +HGNC:39788 PSMC1P13 proteasome 26S subunit, ATPase 1 pseudogene 13 pseudogene pseudogene Approved 13q21.33 13q21.33 proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 13 2011-03-29 2016-04-04 2016-04-04 100422305 ENSG00000232314 OTTHUMG00000017055 NG_024865 HGNC:39788 +HGNC:9548 PSMC2 proteasome 26S subunit, ATPase 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MSS1|S7|Nbla10058|RPT1" "proteasome 26S subunit, ATPase, 2|mammalian suppressor of sgv-1 of yeast|protease 26S subunit 7|putative protein product of Nbla10058" proteasome (prosome, macropain) 26S subunit, ATPase, 2 "AAA ATPases|Proteasome" "413|690" 1995-12-22 2015-08-12 2021-02-09 5701 ENSG00000161057 OTTHUMG00000157206 uc003vbs.4 D11094 NM_002803 CCDS5731 P35998 "9473509|1377363" MGI:109555 RGD:3428 154365 HGNC:9548 "ENST00000292644.5|NM_002803.4" +HGNC:54571 PSMC2P1 PSMC2 pseudogene 1 pseudogene pseudogene Approved 3q22.1 03q22.1 2019-10-16 2019-10-16 729674 ENSG00000240854 OTTHUMG00000159651 NG_022271 PGOHUM00000299592 +HGNC:54573 PSMC2P2 PSMC2 pseudogene 2 pseudogene pseudogene Approved 8q21.2 08q21.2 2019-10-16 2019-10-16 100422271 ENSG00000253137 OTTHUMG00000164631 NG_026114 PGOHUM00000303608 +HGNC:9549 PSMC3 proteasome 26S subunit, ATPase 3 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "TBP1|TBP-1|RPT5" Tat-binding protein-1 proteasome (prosome, macropain) 26S subunit, ATPase, 3 "AAA ATPases|Proteasome" "413|690" 1995-12-06 2015-08-12 2021-11-29 5702 ENSG00000165916 OTTHUMG00000167692 uc001nfh.2 M34079 NM_002804 CCDS7935 P17980 "9048938|9473509" MGI:1098754 RGD:61905 186852 HGNC:9549 "ENST00000298852.8|NM_002804.5" +HGNC:17928 PSMC3IP PSMC3 interacting protein protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "TBPIP|GT198|HUMGT198A|Hop2" "TBP-1 interacting protein|homologous-pairing protein 2 homolog" 2006-02-27 2019-09-13 29893 ENSG00000131470 OTTHUMG00000180247 uc002iai.4 "AB030304|BC008792" NM_013290 "CCDS45688|CCDS11431|CCDS59289" Q9P2W1 "7490091|10806355|11739747" MGI:1098610 RGD:621885 608665 285341 HGNC:17928 "ENST00000393795.8|NM_016556.4" HGNC:17928 +HGNC:9550 PSMC3P1 proteasome 26S subunit, ATPase 3 pseudogene 1 pseudogene pseudogene Approved 9p 09p PSMC3P proteasome (prosome, macropain) 26S subunit, ATPase, 3 pseudogene 1997-06-09 2016-04-04 2016-04-04 2016-04-04 5703 NG_002368 9048938 HGNC:9550 +HGNC:9551 PSMC4 proteasome 26S subunit, ATPase 4 protein-coding gene gene with protein product Approved 19q13.11-q13.13 19q13.11-q13.13 "TBP7|S6|MGC8570|MGC13687|MGC23214|TBP-7|RPT3" "protease 26S subunit 6|Tat-binding protein 7|MB67 interacting protein" MIP224 proteasome (prosome, macropain) 26S subunit, ATPase, 4 "AAA ATPases|Proteasome" "413|690" 1995-12-06 2015-08-12 2021-02-09 5704 ENSG00000013275 OTTHUMG00000182577 uc002omq.5 U27515 NM_006503 "CCDS46076|CCDS12547" P43686 "9473509|8603043" MGI:1346093 RGD:621102 602707 HGNC:9551 "ENST00000157812.7|NM_006503.4" +HGNC:9552 PSMC5 proteasome 26S subunit, ATPase 5 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "SUG1|p45/SUG|TBP10|p45|S8|TRIP1|SUG-1|RPT6" proteasome (prosome, macropain) 26S subunit, ATPase, 5 "AAA ATPases|Proteasome" "413|690" 1995-12-08 2015-08-12 2021-02-09 5705 ENSG00000087191 OTTHUMG00000179013 uc002jcb.4 L38810 NM_002805 "CCDS11645|CCDS56043" P62195 "9473509|9048938" MGI:105047 RGD:708376 601681 HGNC:9552 "ENST00000310144.11|NM_002805.6" +HGNC:9553 PSMC6 proteasome 26S subunit, ATPase 6 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "p42|RPT5" proteasome (prosome, macropain) 26S subunit, ATPase, 6 "AAA ATPases|Proteasome" "413|690" 1995-12-22 2015-08-12 2021-02-09 5706 ENSG00000100519 OTTHUMG00000152333 uc010tqx.3 NM_002806 CCDS9710 P62333 "8674546|9473509" MGI:1914339 RGD:1308825 602708 HGNC:9553 "ENST00000445930.7|NM_002806.5" +HGNC:20634 PSMC6P1 proteasome 26S subunit, ATPase, 6 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 PSMC6P proteasome (prosome, macropain) 26S subunit, ATPase, 6 pseudogene 2003-03-12 2008-03-07 2008-03-07 2014-11-18 266723 NG_002379 HGNC:20634 +HGNC:30149 PSMC6P2 proteasome 26S subunit, ATPase, 6 pseudogene 2 pseudogene pseudogene Approved 12q15 12q15 2008-03-07 2010-04-01 160410 NG_001564 HGNC:30149 +HGNC:34012 PSMC6P3 proteasome 26S subunit, ATPase, 6 pseudogene 3 pseudogene pseudogene Approved 5p13.3 05p13.3 2008-03-07 2010-04-01 100128218 NG_007662 HGNC:34012 +HGNC:9554 PSMD1 proteasome 26S subunit, non-ATPase 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "S1|P112|Rpn2" proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 "Proteasome|Armadillo like helical domain containing" "690|1492" 1995-11-28 2015-08-12 2015-09-07 5707 ENSG00000173692 OTTHUMG00000133223 uc002vrn.3 D44466 NM_001191037 "CCDS2482|CCDS54436" Q99460 8816993 MGI:1917497 RGD:621669 617842 HGNC:9554 "ENST00000308696.11|NM_002807.4" +HGNC:9559 PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "S2|P97|TRAP2|MGC14274|Rpn1" "proteasome (prosome, macropain) 26S subunit, non-ATPase, 2|proteasome 26S subunit, non-ATPase 2" "Proteasome|Armadillo like helical domain containing" "690|1492" 1995-11-28 2021-02-25 2021-02-25 5708 ENSG00000175166 OTTHUMG00000156796 uc003fnn.3 AK095245 NM_002808 "CCDS3258|CCDS63853|CCDS63854" Q13200 8774743 MGI:1096584 RGD:1305752 606223 HGNC:9559 "ENST00000310118.9|NM_002808.5" +HGNC:30154 PSMD2P1 proteasome 26S subunit, non-ATPase, 2 pseudogene 1 pseudogene pseudogene Approved 1q43 01q43 2008-03-07 2008-03-07 2008-03-07 266783 NG_002387 HGNC:30154 +HGNC:9560 PSMD3 proteasome 26S subunit, non-ATPase 3 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "S3|P58|Rpn3" TSTA2 "tissue specific transplantation antigen 2|proteasome (prosome, macropain) 26S subunit, non-ATPase, 3" Proteasome 690 1995-11-28 2015-08-12 2016-10-05 5709 ENSG00000108344 OTTHUMG00000133251 uc002htn.3 D67025 NM_002809 CCDS11356 O43242 9017604 MGI:98858 RGD:1311470 617676 HGNC:9560 "ENST00000264639.9|NM_002809.4" +HGNC:9561 PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "S5A|AF-1|AF|Rpn10" "proteasome (prosome, macropain) 26S subunit, non-ATPase, 4|proteasome 26S subunit, non-ATPase 4" Proteasome 690 1995-11-28 2021-02-25 2021-02-25 5710 ENSG00000159352 OTTHUMG00000012349 uc001exl.4 U51007 NM_002810 "CCDS991|CCDS81375" P55036 8641424 MGI:1201670 RGD:621109 601648 HGNC:9561 "ENST00000368884.8|NM_002810.4" +HGNC:9562 PSMD4P1 proteasome 26S subunit, non-ATPase 4 pseudogene 1 pseudogene pseudogene Approved 21q22.13 21q22.13 "PSMD4P|PSMD15" "proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene|proteasome (prosome, macropain) 26S subunit, non-ATPase, 15|proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 pseudogene 1" 2000-05-23 2010-12-20 2016-04-04 2016-10-05 54035 ENSG00000223741 OTTHUMG00000086641 NG_002723 HGNC:9562 +HGNC:9563 PSMD5 proteasome 26S subunit, non-ATPase 5 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "S5B|KIAA0072" proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 "Proteasome|Armadillo like helical domain containing" "690|1492" 1995-12-05 2015-08-12 2016-10-05 5711 ENSG00000095261 OTTHUMG00000020573 uc004bko.5 AK001065 NM_005047 "CCDS6824|CCDS59143" Q16401 7559544 MGI:1914248 RGD:1308434 604452 HGNC:9563 "ENST00000210313.8|NM_005047.4" +HGNC:9564 PSMD6 proteasome 26S subunit, non-ATPase 6 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "S10|p44S10|KIAA0107|Rpn7" proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 Proteasome 690 1995-12-06 2015-08-12 2015-08-12 9861 ENSG00000163636 OTTHUMG00000158765 uc003dma.3 AF215935 NM_014814 "CCDS63678|CCDS2901|CCDS63679|CCDS63677" Q15008 10723133 MGI:1913663 RGD:735127 617857 HGNC:9564 "ENST00000295901.9|NM_014814.3" +HGNC:40480 PSMD6-AS1 PSMD6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 "ENST00000462717|lnc00462717" Antisense RNAs 1987 2017-01-06 2017-02-15 109729140 ENSG00000243410 OTTHUMG00000158762 "27997908|28189682" +HGNC:44125 PSMD6-AS2 PSMD6 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 PSMD6 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507062 ENSG00000239653 OTTHUMG00000158764 uc003dly.3 AK023371 NR_038286 PSMD6-AS2 HGNC:44125 +HGNC:9565 PSMD7 proteasome 26S subunit, non-ATPase 7 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "S12|P40|MOV34|Rpn8" Mov34 homolog "proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)|proteasome (prosome, macropain) 26S subunit, non-ATPase, 7" "Proteasome|JAMM/MPN+ metallopeptidase family" "690|999" 1991-06-05 2015-08-12 2016-10-05 5713 ENSG00000103035 OTTHUMG00000137601 uc002fcq.3 D50063 NM_002811 CCDS10910 P51665 7755639 MGI:1351511 RGD:1306902 157970 M67.973 HGNC:9565 "ENST00000219313.9|NM_002811.5" +HGNC:53056 PSMD7-DT PSMD7 divergent transcript non-coding RNA RNA, long non-coding Approved 16q23.1 16q23.1 Divergent transcripts 1990 2020-11-11 2020-11-11 101928035 ENSG00000261404 OTTHUMG00000176255 NR_104657 +HGNC:7202 PSMD7P1 proteasome 26S subunit, non-ATPase 7 pseudogene 1 pseudogene pseudogene Approved 17q24.1 17q24.1 "MOV34L|PSMD7L" "Moloney leukemia virus 34 proviral integration homolog-like|proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 like|proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene 1" 1991-06-05 2010-10-15 2015-11-18 2020-04-20 280637 ENSG00000266707 OTTHUMG00000179529 NG_002412 PGOHUM00000294530 HGNC:7202 +HGNC:9566 PSMD8 proteasome 26S subunit, non-ATPase 8 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "S14|Nin1p|p31|HIP6|HYPF|Rpn12" proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 Proteasome 690 1997-02-19 2015-08-12 2015-08-12 5714 ENSG00000099341 OTTHUMG00000150691 uc002oii.5 D38047 NM_002812 CCDS12515 P48556 7621825 MGI:1888669 RGD:1309842 617844 HGNC:9566 "ENST00000215071.9|NM_002812.5" +HGNC:34013 PSMD8P1 proteasome 26S subunit, non-ATPase, 8 pseudogene 1 pseudogene pseudogene Approved 1q21.3 01q21.3 2008-03-07 2020-04-20 100422411 ENSG00000228264 OTTHUMG00000036071 NG_026992 PGOHUM00000259496 HGNC:34013 +HGNC:9567 PSMD9 proteasome 26S subunit, non-ATPase 9 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "p27|Rpn4" proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 "Proteasome|PDZ domain containing" "690|1220" 1997-02-19 2015-08-12 2016-10-05 5715 ENSG00000110801 OTTHUMG00000168945 uc001ubl.5 AB003177 NM_002813 "CCDS9225|CCDS58284" O00233 9653651 MGI:1914401 RGD:621110 603146 HGNC:9567 "ENST00000541212.6|NM_002813.7" +HGNC:9555 PSMD10 proteasome 26S subunit, non-ATPase 10 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 p28 gankyrin proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 "Ankyrin repeat domain containing|Proteasome" "403|690" 1997-02-19 2015-08-12 2020-04-02 5716 ENSG00000101843 OTTHUMG00000022177 uc004enp.3 AB009619 NM_170750 "CCDS14537|CCDS14536" O75832 9714768 MGI:1858898 RGD:620350 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PSMD10 300880 HGNC:9555 "ENST00000217958.8|NM_002814.4" +HGNC:16602 PSMD10P1 proteasome 26S subunit, non-ATPase, 10 pseudogene 1 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ914P20.4 PSMD10P proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 pseudogene 2001-09-17 2008-03-07 2008-03-07 2011-03-18 170541 ENSG00000228663 OTTHUMG00000032736 AL034553 NG_001050 PGOHUM00000247673 HGNC:16602 +HGNC:30151 PSMD10P2 proteasome 26S subunit, non-ATPase, 10 pseudogene 2 pseudogene pseudogene Approved 3q27.3 03q27.3 2008-03-07 2011-03-18 280644 ENSG00000226652 OTTHUMG00000156575 NG_002417 PGOHUM00000238294 HGNC:30151 +HGNC:30152 PSMD10P3 proteasome 26S subunit, non-ATPase, 10 pseudogene 3 pseudogene pseudogene Approved 13q22.1 13q22.1 2008-03-07 2011-03-18 338091 ENSG00000232041 OTTHUMG00000017072 NG_002627 PGOHUM00000248631 HGNC:30152 +HGNC:9556 PSMD11 proteasome 26S subunit, non-ATPase 11 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "S9|p44.5|MGC3844|Rpn6" proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 Proteasome 690 1997-02-19 2015-08-12 2016-10-05 5717 ENSG00000108671 OTTHUMG00000132811 uc002hhm.5 AB003102 NM_002815 CCDS11272 O00231 "9426256|9119060" MGI:1916327 RGD:1306450 604449 HGNC:9556 "ENST00000261712.8|NM_002815.4" +HGNC:9557 PSMD12 proteasome 26S subunit, non-ATPase 12 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "p55|Rpn5" proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 Proteasome 690 1997-02-19 2015-08-12 2021-05-26 5718 ENSG00000197170 OTTHUMG00000140376 uc002jfy.4 AB003103 "NM_002816|NM_174871" "CCDS11669|CCDS11670" O00232 9426256 MGI:1914247 RGD:1359305 604450 HGNC:9557 "ENST00000356126.8|NM_002816.5" HGNC:9557 +HGNC:30153 PSMD12P1 PSMD12 pseudogene 1 pseudogene pseudogene Approved 3p13 03p13 PSMD12P proteasome 26S subunit, non-ATPase, 12 pseudogene 2008-03-07 2019-12-19 2019-12-19 2019-12-19 317753 ENSG00000240135 OTTHUMG00000158817 NG_002463 PGOHUM00000299056 HGNC:30153 +HGNC:9558 PSMD13 proteasome 26S subunit, non-ATPase 13 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "p40.5|Rpn9" proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 Proteasome 690 1997-02-19 2015-08-12 2015-08-12 5719 ENSG00000185627 OTTHUMG00000119072 uc001lol.3 AB009398 NM_002817 "CCDS44504|CCDS7692" Q9UNM6 "9714768|8811196" MGI:1345192 RGD:1305236 603481 HGNC:9558 "ENST00000532097.6|NM_002817.4" +HGNC:16889 PSMD14 proteasome 26S subunit, non-ATPase 14 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "POH1|pad1|Rpn11" proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 "Proteasome|JAMM/MPN+ metallopeptidase family" "690|999" 2003-03-17 2015-08-12 2016-10-05 10213 ENSG00000115233 OTTHUMG00000153882 uc002ubu.4 U86782 NM_005805 CCDS46437 O00487 9374539 MGI:1913284 RGD:1594532 607173 objectId:2410 HGNC:16889 "ENST00000409682.8|NM_005805.6" +HGNC:56104 PSMD14-DT PSMD14 divergent transcript non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Divergent transcripts 1990 2022-01-06 2022-01-06 101929512 ENSG00000235724 NR_110593 +HGNC:54533 PSMD14P1 PSMD14 pseudogene 1 pseudogene pseudogene Approved 2q14.3 02q14.3 2019-10-11 2019-10-11 100131284 ENSG00000227738 NG_021581 HGNC:54533 +HGNC:9568 PSME1 proteasome activator subunit 1 protein-coding gene gene with protein product Approved 14q12 14q12 "IFI5111|PA28alpha" proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) Proteasome 690 1997-02-11 2015-08-12 2016-10-05 5720 ENSG00000092010 OTTHUMG00000028795 uc001wmg.4 NM_006263 "CCDS41930|CCDS61415|CCDS9612" Q06323 8269930 MGI:1096367 RGD:3429 600654 HGNC:9568 "ENST00000206451.11|NM_006263.4" +HGNC:9569 PSME2 proteasome activator subunit 2 protein-coding gene gene with protein product Approved 14q12 14q12 PA28beta proteasome (prosome, macropain) activator subunit 2 (PA28 beta) "Proteasome|MicroRNA protein coding host genes" "690|1691" 1997-02-11 2015-08-12 2016-10-05 5721 ENSG00000100911 OTTHUMG00000028797 uc001wmj.4 NM_002818 CCDS9614 Q9UL46 7789512 MGI:1096365 RGD:3430 602161 HGNC:9569 "ENST00000216802.10|NM_002818.3" +HGNC:20632 PSME2P1 proteasome activator subunit 2 pseudogene 1 pseudogene pseudogene Approved 5q15 05q15 PSME2P proteasome (prosome, macropain) activator subunit 2 pseudogene 2003-03-10 2008-03-07 2008-03-07 2020-03-31 257093 ENSG00000238000 OTTHUMG00000162714 AC116347 NG_002626 PGOHUM00000301066 HGNC:20632 +HGNC:30160 PSME2P2 proteasome activator subunit 2 pseudogene 2 pseudogene pseudogene Approved 13q14.2 13q14.2 2008-03-07 2008-03-07 2014-11-19 338099 ENSG00000225131 OTTHUMG00000016907 NG_002632 PGOHUM00000248589 HGNC:30160 +HGNC:30156 PSME2P3 proteasome activator subunit 2 pseudogene 3 pseudogene pseudogene Approved 4q32.1 04q32.1 2008-03-07 2020-03-31 338095 ENSG00000248988 OTTHUMG00000161987 NG_002628 PGOHUM00000246119 HGNC:30156 +HGNC:30157 PSME2P4 proteasome activator subunit 2 pseudogene 4 pseudogene pseudogene Approved 4p14 04p14 2008-03-07 2020-03-31 338096 ENSG00000251332 OTTHUMG00000160425 NG_002629 PGOHUM00000245497 HGNC:30157 +HGNC:30158 PSME2P5 proteasome activator subunit 2 pseudogene 5 pseudogene pseudogene Approved 8p21.2 08p21.2 2008-03-07 2020-03-31 338097 ENSG00000253208 OTTHUMG00000163884 NG_002630 PGOHUM00000249596 HGNC:30158 +HGNC:30159 PSME2P6 proteasome activator subunit 2 pseudogene 6 pseudogene pseudogene Approved 10p12.31 10p12.31 2008-03-07 2016-08-16 338098 ENSG00000227462 OTTHUMG00000017802 NG_002631 PGOHUM00000290068 HGNC:30159 +HGNC:9570 PSME3 proteasome activator subunit 3 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "Ki|PA28-gamma|REG-GAMMA|PA28G" proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) Proteasome 690 1999-06-04 2015-08-12 2016-01-15 10197 ENSG00000131467 OTTHUMG00000180654 uc002ibr.5 U11292 NM_176863 "CCDS82133|CCDS45689|CCDS11442|CCDS59290" P61289 7951316 MGI:1096366 RGD:1306996 605129 HGNC:9570 "ENST00000590720.6|NM_005789.4" +HGNC:29856 PSME3IP1 proteasome activator subunit 3 interacting protein 1 protein-coding gene gene with protein product Approved 16q13 16q13 "NIP30|PIP30" "NEFA interacting nuclear protein NIP30|PA28G interacting protein 30kDa|PSME3 interacting protein 30kDa" "C16orf94|FAM192A" "chromosome 16 open reading frame 94|family with sequence similarity 192 member A" 2009-07-30 2019-09-05 2019-09-05 2019-09-05 80011 ENSG00000172775 OTTHUMG00000176660 uc021tiy.1 NM_024946 CCDS42168 Q9GZU8 "26497270|29934401" MGI:1919637 RGD:1307433 617766 HGNC:29856 "ENST00000309137.13|NM_024946.4" +HGNC:20635 PSME4 proteasome activator subunit 4 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 "PA200|KIAA0077" proteasome (prosome, macropain) activator subunit 4 "Proteasome|Armadillo like helical domain containing" "690|1492" 2003-04-14 2015-08-12 2018-11-19 23198 ENSG00000068878 OTTHUMG00000151852 uc002rxp.2 D38521 NM_014614 CCDS33197 Q14997 "7584044|12093752" MGI:2143994 RGD:1591971 607705 HGNC:20635 "ENST00000404125.6|NM_014614.3" +HGNC:9571 PSMF1 proteasome inhibitor subunit 1 protein-coding gene gene with protein product Approved 20p13 20p13 PI31 proteasome inhibitor hP131 subunit proteasome (prosome, macropain) inhibitor subunit 1 (PI31) Proteasome 690 1999-04-15 2015-08-12 2015-08-12 9491 ENSG00000125818 OTTHUMG00000031656 uc002wel.4 D88378 NM_178578 "CCDS82589|CCDS13010" Q92530 10363639 MGI:1346072 RGD:1587528 617858 HGNC:9571 "ENST00000335877.11|NM_006814.5" +HGNC:3043 PSMG1 proteasome assembly chaperone 1 protein-coding gene gene with protein product Approved 21q22.2 21q22.2 "c21-LRP|LRPC21|PAC1" DSCR2 "Down syndrome critical region gene 2|proteasome (prosome, macropain) assembly chaperone 1" 1999-09-17 2007-10-23 2016-04-04 2016-10-05 8624 ENSG00000183527 OTTHUMG00000066034 uc002yxi.5 AJ006291 NM_003720 "CCDS13661|CCDS13660" O95456 "10872820|17189198" MGI:1860263 RGD:1305454 605296 HGNC:3043 "ENST00000331573.8|NM_003720.4" +HGNC:24929 PSMG2 proteasome assembly chaperone 2 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "HCCA3|MDS003|MGC15092|CLAST3|HsT1707|PAC2" "hepatocellular carcinoma susceptibility protein|CD40 ligand-activated specific transcript 3" TNFSF5IP1 "tumor necrosis factor superfamily, member 5-induced protein 1|proteasome (prosome, macropain) assembly chaperone 2" 2004-03-04 2007-10-23 2016-04-04 2016-04-04 56984 ENSG00000128789 OTTHUMG00000131703 uc002krk.5 AF276707 NM_020232 "CCDS11862|CCDS67440" Q969U7 "11854909|12147697|17189198" MGI:1922901 RGD:1304867 609702 HGNC:24929 "ENST00000317615.11|NM_020232.5" +HGNC:22420 PSMG3 proteasome assembly chaperone 3 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "MGC10911|PAC3" C7orf48 "chromosome 7 open reading frame 48|proteasome (prosome, macropain) assembly chaperone 3" 2006-08-30 2007-08-16 2016-04-04 2016-04-04 84262 ENSG00000157778 OTTHUMG00000119043 uc064axx.1 BC027171 NM_032302 CCDS5327 Q9BT73 17189198 MGI:1913756 RGD:2319950 617528 HGNC:22420 "ENST00000288607.3|NM_032302.4" +HGNC:22230 PSMG3-AS1 PSMG3 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 KIAA1908 Antisense RNAs 1987 2012-11-06 2020-06-03 114796 ENSG00000230487 OTTHUMG00000151452 uc021zys.2 NR_021487 Q96PY0 32471413 PSMG3-AS1 HGNC:22230 +HGNC:21108 PSMG4 proteasome assembly chaperone 4 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 PAC4 C6orf86 "chromosome 6 open reading frame 86|proteasome (prosome, macropain) assembly chaperone 4" 2003-11-26 2008-02-25 2016-04-04 2016-04-04 389362 ENSG00000180822 OTTHUMG00000014142 uc010jnm.2 NM_001128591 "CCDS47361|CCDS47360|CCDS47362" Q5JS54 17707236 MGI:1916916 RGD:1589955 617550 HGNC:21108 "ENST00000438998.7|NM_001128591.2" +HGNC:17202 PSORS1C1 psoriasis susceptibility 1 candidate 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 SEEK1 C6orf16 chromosome 6 open reading frame 16 2002-02-13 2003-06-12 2018-02-14 170679 ENSG00000204540 OTTHUMG00000031077 uc003nsl.2 AB031479 NM_014068 CCDS34390 Q9UIG5 613525 HGNC:17202 "ENST00000259881.10|NM_014068.3" +HGNC:17199 PSORS1C2 psoriasis susceptibility 1 candidate 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 SPR1 C6orf17 chromosome 6 open reading frame 17 2002-02-13 2003-06-12 2018-03-02 170680 ENSG00000204538 OTTHUMG00000031081 uc003nso.5 AB031480 NM_014069 CCDS4694 Q9UIG4 27943452 MGI:1930025 RGD:1591981 613526 HGNC:17199 "ENST00000259845.5|NM_014069.3" +HGNC:17203 PSORS1C3 psoriasis susceptibility 1 candidate 3 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 NCRNA00196 non-protein coding RNA 196 "psoriasis susceptibility 1 candidate 3|psoriasis susceptibility 1 candidate 3 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-02-13 2018-05-16 2018-05-16 100130889 ENSG00000204528 OTTHUMG00000031054 uc011dnh.1 NR_026816 27716329 618690 PSORS1C3 HGNC:17203 +HGNC:20320 PSPC1 paraspeckle component 1 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "PSP1|FLJ10955" RNA binding motif containing 725 2003-04-07 2016-10-05 55269 ENSG00000121390 OTTHUMG00000016502 uc058vtc.1 AK001817 NM_001042414 "CCDS41870|CCDS86343" Q8WXF1 11790299 MGI:1913895 RGD:1310122 612408 HGNC:20320 "ENST00000338910.9|NM_001354909.2" +HGNC:52951 PSPC1-AS2 PSPC1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 RP11-523H24.3 Antisense RNAs 1987 2016-12-21 2016-12-21 2017-03-22 109729130 ENSG00000226352 OTTHUMG00000016499 27714034 +HGNC:42033 PSPC1P1 paraspeckle component 1 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-06-01 2014-11-18 642395 ENSG00000227879 OTTHUMG00000016480 NG_011334 PGOHUM00000248305 HGNC:42033 +HGNC:42643 PSPC1P2 paraspeckle component 1 pseudogene 2 pseudogene pseudogene Approved 13q12.12 13q12.12 2011-08-10 2013-09-03 100873875 ENSG00000244615 OTTHUMG00000016585 NG_032524 HGNC:42643 +HGNC:9577 PSPH phosphoserine phosphatase protein-coding gene gene with protein product Approved 7p11.2 07p11.2 PSP HAD Asp-based non-protein phosphatases 1045 2001-06-22 2014-11-19 5723 ENSG00000146733 OTTHUMG00000023441 uc003trh.4 Y10275 NM_004577 CCDS5522 P78330 "6297854|9188776" MGI:97788 RGD:1308764 172480 118111 3.1.3.3 HGNC:9577 "ENST00000275605.8|NM_004577.4" HGNC:9577 +HGNC:9578 PSPHP1 phosphoserine phosphatase pseudogene 1 pseudogene pseudogene Approved 7p11.2 07p11.2 CO9 L-3-phosphoserine-phosphatase homolog PSPHL phosphoserine phosphatase-like 1999-07-09 2011-09-02 2011-09-02 2011-09-02 8781 ENSG00000226278 OTTHUMG00000156125 AJ001612 XM_926720 O15172 9573387 604239 PGOHUM00000233245 HGNC:9578 +HGNC:9579 PSPN persephin protein-coding gene gene with protein product Approved 19p13.3 19p13.3 PSP GDNF family ligands 1586 1997-10-10 2018-05-24 5623 ENSG00000125650 OTTHUMG00000168086 uc010xja.2 AF040962 NM_004158 CCDS12164 O60542 10072588 MGI:1201684 RGD:3432 602921 ligandId:5045 HGNC:9579 "ENST00000245810.2|NM_004158.5" +HGNC:24472 PSRC1 proline and serine rich coiled-coil 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 DDA3 differential display and activated by p53 proline/serine-rich coiled-coil 1 2005-08-08 2016-04-06 2016-04-06 84722 ENSG00000134222 OTTHUMG00000012000 uc031ukv.2 NM_032636 "CCDS30791|CCDS797" Q6PGN9 "12427559|10618717" MGI:1913099 RGD:1585037 613126 HGNC:24472 +HGNC:28578 PSTK phosphoseryl-tRNA kinase protein-coding gene gene with protein product Approved 10q26.13 10q26.13 MGC35392 "L-seryl-tRNA(Sec) kinase|O-phosphoseryl-tRNA(Sec) kinase" C10orf89 chromosome 10 open reading frame 89 2004-03-16 2007-04-17 2007-04-17 2016-04-05 118672 ENSG00000179988 OTTHUMG00000019191 uc001lgy.2 AK127173 NM_153336 "CCDS7633|CCDS86153" Q8IV42 15317934 MGI:2685945 RGD:1564300 611310 2.7.1.164 HGNC:28578 "ENST00000406217.8|NM_001363531.2" +HGNC:9580 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "PSTPIP|CD2BP1L|CD2BP1|CD2BP1S|H-PIP|PAPAS" "CD2 cytoplasmic tail-binding protein|CD2 antigen-binding protein 1|PEST phosphatase-interacting protein 1" F-BAR domain containing 1288 1999-01-12 2021-04-13 9051 ENSG00000140368 OTTHUMG00000172594 uc002bcf.3 U94778 NM_003978 "CCDS45312|CCDS81910" O43586 9857189 MGI:1321396 RGD:1307557 "PAPA syndrome: INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_172|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_172.xml" 606347 118114 HGNC:9580 "ENST00000558012.6|NM_003978.5" HGNC:9580 +HGNC:9581 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 F-BAR domain containing 1288 1999-01-12 2016-10-05 9050 ENSG00000152229 OTTHUMG00000152674 uc002lbp.5 NM_024430 CCDS32820 Q9H939 9804817 MGI:1335088 RGD:1563090 616046 HGNC:9581 "ENST00000409746.5|NM_024430.4" +HGNC:9582 PTAFR platelet activating factor receptor protein-coding gene gene with protein product Approved 1p35.3 01p35.3 Platelet activating factor receptor 208 1991-11-14 2016-03-09 2016-10-05 5724 ENSG00000169403 OTTHUMG00000003953 uc009vte.3 BC063000 NM_000952 CCDS318 P25105 1322356 MGI:106066 RGD:61897 173393 objectId:334 HGNC:9582 "ENST00000373857.8|NM_000952.5" +HGNC:30449 PTAR1 protein prenyltransferase alpha subunit repeat containing 1 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 Prenyltransferase alpha subunit repeat containing 687 2004-05-10 2020-11-17 375743 ENSG00000188647 OTTHUMG00000019982 uc004ahi.4 BC053622 NM_001099666 CCDS47978 Q7Z6K3 31209342 MGI:1921875 RGD:708369 HGNC:30449 "ENST00000340434.5|NM_001099666.2" +HGNC:9583 PTBP1 polypyrimidine tract binding protein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HNRPI|HNRNP-I|PTB2|PTB3|PTB-1|PTB4|pPTB" heterogeneous nuclear ribonucleoprotein I PTB polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I) "RNA binding motif containing|MicroRNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins" "725|1691|1950" 1992-06-29 2002-01-25 2002-01-25 2015-03-26 5725 ENSG00000011304 OTTHUMG00000181789 uc002lpr.3 X60648 NM_002819 "CCDS32859|CCDS42456|CCDS45892" P26599 "1906036|11024286" MGI:97791 RGD:62047 600693 HGNC:9583 "ENST00000356948.11|NM_002819.5" +HGNC:20030 PTBP1P polypyrimidine tract binding protein 1 pseudogene pseudogene pseudogene Approved 14q23.3 14q23.3 2003-01-13 2014-11-19 122888 ENSG00000259078 OTTHUMG00000171170 NG_002328 PGOHUM00000248204 HGNC:20030 +HGNC:17662 PTBP2 polypyrimidine tract binding protein 2 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "brPTB|nPTB|PTB|PTBLP" "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2002-01-25 2014-11-19 58155 ENSG00000117569 OTTHUMG00000010685 uc001drq.4 AB051232 NM_001300985 "CCDS72829|CCDS72830|CCDS754|CCDS72828" Q9UKA9 11003644 MGI:1860489 RGD:1359267 608449 HGNC:17662 "ENST00000674951.1|NM_021190.4" +HGNC:10253 PTBP3 polypyrimidine tract binding protein 3 protein-coding gene gene with protein product Approved 9q32 09q32 DKFZp781I1117 ROD1 "regulator of differentiation (in S. pombe) 1|ROD1 regulator of differentiation 1 (S. pombe)" RNA binding motif containing 725 1999-10-26 2011-11-16 2011-11-16 2014-11-19 9991 ENSG00000119314 OTTHUMG00000020503 uc004bfw.4 AB023967 NM_001163788 "CCDS59141|CCDS59140|CCDS55332|CCDS55333|CCDS6784" O95758 10207106 MGI:1923334 RGD:621671 607527 HGNC:10253 "ENST00000374257.6|NM_001163788.4" +HGNC:22198 PTCD1 pentatricopeptide repeat domain 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 KIAA0632 Pentatricopeptide repeat containing 1823 2004-04-05 2016-10-25 26024 ENSG00000106246 OTTHUMG00000154600 uc003uqh.4 AB014532 NM_015545 CCDS34691 O75127 MGI:1919049 614774 HGNC:22198 "ENST00000292478.9|NM_015545.4" +HGNC:25734 PTCD2 pentatricopeptide repeat domain 2 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 FLJ12598 Pentatricopeptide repeat containing 1823 2004-04-05 2019-03-01 79810 ENSG00000049883 OTTHUMG00000100953 uc003kcb.5 BC018720 NM_024754 "CCDS4014|CCDS68891|CCDS75258|CCDS68892" Q8WV60 23635806 MGI:1916177 RGD:1310308 615484 HGNC:25734 "ENST00000380639.10|NM_024754.5" +HGNC:31718 PTCD2P1 pentatricopeptide repeat domain 2 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 2004-06-17 2020-04-20 100131302 ENSG00000258456 OTTHUMG00000170987 NG_022837 PGOHUM00000247728 HGNC:31718 +HGNC:45168 PTCD2P2 pentatricopeptide repeat domain 2 pseudogene 2 pseudogene pseudogene Approved 10q23.31 10q23.31 2013-02-28 2013-02-28 100132487 ENSG00000234256 OTTHUMG00000018704 NG_022186 PGOHUM00000238880 HGNC:45168 +HGNC:24717 PTCD3 pentatricopeptide repeat domain 3 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ20758|DKFZp666K071" "Pentatricopeptide repeat containing|Small nucleolar RNA protein coding host genes" "1823|1835" 2006-08-07 2012-02-24 2014-11-18 55037 ENSG00000132300 OTTHUMG00000153168 uc002sqw.2 NM_017952 CCDS33235 Q96EY7 8889548 MGI:1917206 RGD:1565582 614918 HGNC:24717 "ENST00000254630.12|NM_017952.6" HGNC:24717 +HGNC:9585 PTCH1 patched 1 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 BCNS "NBCCS|PTCH" "patched (Drosophila) homolog|patched homolog (Drosophila)|patched homolog 1 (Drosophila)" 1996-07-19 2006-09-26 2010-06-24 2021-05-26 5727 ENSG00000185920 OTTHUMG00000020280 uc004avk.5 AI494442 NM_000264 "CCDS47996|CCDS6714|CCDS87661|CCDS47995|CCDS43851" Q13635 8658145 MGI:105373 RGD:621425 LRG_515|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_515.xml PTCH1 601309 118121 HGNC:9585 "ENST00000331920.11|NM_000264.5" HGNC:9585 +HGNC:9586 PTCH2 patched 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "patched (Drosophila) homolog 2|patched homolog 2 (Drosophila)" 1998-10-19 2010-06-24 2014-11-19 8643 ENSG00000117425 OTTHUMG00000008490 uc010olf.3 AF091501 NM_003738 "CCDS516|CCDS53312" Q9Y6C5 "9811851|9931336" MGI:1095405 RGD:1309039 603673 118126 HGNC:9586 "ENST00000372192.4|NM_003738.5" HGNC:9586 +HGNC:26392 PTCHD1 patched domain containing 1 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 FLJ30296 2004-09-02 2020-04-02 139411 ENSG00000165186 OTTHUMG00000021251 uc004dal.5 AK054858 NM_173495 CCDS35215 Q96NR3 MGI:2685233 RGD:1564527 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/PTCHD1 300828 401078 HGNC:26392 "ENST00000379361.5|NM_173495.3" HGNC:26392 +HGNC:37703 PTCHD1-AS PTCHD1 antisense RNA (head to head) non-coding RNA RNA, long non-coding Approved Xp22.11 Xp22.11 "PTCHD1AS1|PTCHD1AS2|DDX53-AS1" DDX53 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2014-04-15 2020-04-20 100873065 ENSG00000233067 OTTHUMG00000021249 "DA355362|BX115199" NR_073010 PTCHD1-AS HGNC:37703 +HGNC:24776 PTCHD3 patched domain containing 3 (gene/pseudogene) protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "FLJ44037|PTR" patched domain containing 3 2005-05-24 2021-10-28 2021-10-28 374308 ENSG00000182077 OTTHUMG00000017860 uc001itu.3 AK126025 NM_001034842 CCDS31173 Q3KNS1 MGI:1921925 RGD:1590039 611791 HGNC:24776 +HGNC:44945 PTCHD3P1 patched domain containing 3 pseudogene 1 pseudogene pseudogene Approved 10p11.23 10p11.23 2012-12-19 2014-08-07 387647 ENSG00000274985 OTTHUMG00000187781 NG_034006 PGOHUM00000238383 HGNC:44945 +HGNC:44946 PTCHD3P2 patched domain containing 3 pseudogene 2 pseudogene pseudogene Approved 2q31.1 02q31.1 2012-12-19 2012-12-19 100533664 ENSG00000231550 OTTHUMG00000154119 NG_028775 PGOHUM00000240419 HGNC:44946 +HGNC:44947 PTCHD3P3 patched domain containing 3 pseudogene 3 pseudogene pseudogene Approved 6q21 06q21 2012-12-19 2012-12-19 2014-02-12 100533665 ENSG00000219700 OTTHUMG00000015341 NG_028811 PGOHUM00000243323 HGNC:44947 +HGNC:21345 PTCHD4 patched domain containing 4 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "dJ402H5.2|FLJ41841|PTCH53" C6orf138 chromosome 6 open reading frame 138 2003-11-26 2012-02-06 2012-02-06 2017-07-28 442213 ENSG00000244694 OTTHUMG00000150404 uc011dwm.2 NM_001013732 CCDS34473 Q6ZW05 25296753 MGI:1920485 RGD:1563020 616908 HGNC:21345 "ENST00000339488.9|NM_001384253.1" +HGNC:21290 PTCRA pre T cell antigen receptor alpha protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "PTA|PT-ALPHA" pre T-cell antigen receptor alpha 2003-06-02 2017-12-06 2017-12-06 171558 ENSG00000171611 OTTHUMG00000014709 uc003osx.4 AF084941 NM_138296 "CCDS75457|CCDS59020|CCDS59019|CCDS4874" Q6ISU1 "8618853|9842925" MGI:104857 RGD:621388 606817 HGNC:21290 "ENST00000304672.6|NM_138296.3" +HGNC:37127 PTCSC1 papillary thyroid carcinoma susceptibility candidate 1 non-coding RNA RNA, long non-coding Approved 8q24 08q24 "AK023948|NCRNA00197" non-protein coding RNA 197 PTCSC "papillary thyroid carcinoma susceptibility candidate (non-protein coding)|papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2009-07-16 2012-06-18 2018-05-16 2018-05-16 100302522 AK023948 NR_146773 "19147577|28176758" 617440 AK023948 HGNC:37127 +HGNC:44086 PTCSC2 papillary thyroid carcinoma susceptibility candidate 2 non-coding RNA RNA, long non-coding Approved 9q22.33 09q22.33 papillary thyroid carcinoma susceptibility candidate 2 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2014-10-15 2018-05-16 2018-09-07 101928337 ENSG00000236130 OTTHUMG00000020335 "HG502283|BE073442" NR_147055 "23408906|25303483" PTCSC2 HGNC:44086 +HGNC:43959 PTCSC3 papillary thyroid carcinoma susceptibility candidate 3 non-coding RNA RNA, long non-coding Approved 14q13.3 14q13.3 papillary thyroid carcinoma susceptibility candidate 3 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2012-05-11 2018-05-16 2018-07-05 100886964 ENSG00000259104 OTTHUMG00000170617 uc031qoh.3 "JN689234|CB987890" NR_049735 "22586128|26274343|29561707" 614821 ptcsc3 PTCSC3 HGNC:43959 +HGNC:9587 PTDSS1 phosphatidylserine synthase 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "KIAA0024|PSSA|PSS1" 2000-01-21 2016-10-05 9791 ENSG00000156471 OTTHUMG00000164687 uc003yht.2 D14694 NM_001290225 CCDS6271 P48651 MGI:1276575 RGD:1308949 612792 391631 HGNC:9587 "ENST00000517309.6|NM_014754.3" HGNC:9587 +HGNC:15463 PTDSS2 phosphatidylserine synthase 2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 PSS2 2001-03-30 2016-10-05 81490 ENSG00000174915 OTTHUMG00000119087 uc001lpj.3 BC001210 NM_001329544 CCDS7696 Q9BVG9 14984733 MGI:1351664 RGD:1307914 612793 HGNC:15463 "ENST00000308020.6|NM_030783.3" +HGNC:9588 PTEN phosphatase and tensin homolog protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "MMAC1|TEP1|PTEN1" mutated in multiple advanced cancers 1 "BZS|MHAM" "C2 tensin-type domain containing|PTEN protein phosphatases|Phosphoinositide phosphatases" "837|902|1079" 1997-04-21 2008-07-31 2021-05-26 5728 ENSG00000171862 OTTHUMG00000018688 uc001kfb.4 U92436 NM_000314 CCDS31238 P60484 9090379 MGI:109583 RGD:61995 LRG_311|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_311.xml PTEN 601728 118128 objectId:2497 "3.1.3.16|3.1.3.48|3.1.3.67" HGNC:9588 "ENST00000371953.8|NM_000314.8" HGNC:9588 +HGNC:9589 PTENP1 phosphatase and tensin homolog pseudogene 1 pseudogene pseudogene Approved 9p13.3 09p13.3 "PTEN2|psiPTEN|PTH2|PTEN-rs|PTENpg1" phosphatase and tensin homolog pseudogene 1 (functional) 1999-09-09 2016-01-29 2016-11-30 11191 ENSG00000237984 OTTHUMG00000000410 "AF023139|BC038293|BY797336" NR_023917 "9393738|9620558|20577206" 613531 PTENP1 HGNC:9589 +HGNC:48773 PTENP1-AS PTENP1 antisense RNA non-coding RNA RNA, long non-coding Approved 9p13.3 09p13.3 PTENpg1-asRNA Antisense RNAs 1987 2013-06-10 2018-09-07 101243555 ENSG00000281128 OTTHUMG00000189560 BX374997 NR_103745 23435381 ptenp1asrnas HGNC:48773 +HGNC:9590 PTER phosphotriesterase related protein-coding gene gene with protein product Approved 10p13 10p13 1999-06-11 2016-10-05 9317 ENSG00000165983 OTTHUMG00000017737 uc001ioh.3 BC015092 NM_030664 "CCDS73070|CCDS58070|CCDS7111" Q96BW5 9925913 MGI:107372 RGD:61313 604446 HGNC:9590 "ENST00000535784.7|NM_001261836.2" +HGNC:23734 PTF1A pancreas associated transcription factor 1a protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "PTF1-p48|bHLHa29|p48" pancreas specific transcription factor, 1a "Basic helix-loop-helix proteins|PTF1 complex" "420|1608" 2003-12-04 2018-02-19 2018-02-20 256297 ENSG00000168267 OTTHUMG00000017815 uc001irp.4 BK000272 NM_178161 CCDS7143 Q7RTS3 8703005 MGI:1328312 RGD:621709 607194 118135 HGNC:23734 "ENST00000376504.4|NM_178161.3" HGNC:23734 +HGNC:9591 PTGDR prostaglandin D2 receptor protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "DP|DP1|PTGDR1" Prostaglandin receptors 207 1995-11-09 2016-07-01 2016-07-01 5729 ENSG00000168229 OTTHUMG00000140299 uc001wzq.3 U31332 NM_000953 "CCDS9707|CCDS61454" Q13258 7642548 MGI:102966 RGD:619707 604687 objectId:338 HGNC:9591 "ENST00000306051.3|NM_000953.3" +HGNC:4502 PTGDR2 prostaglandin D2 receptor 2 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "CRTH2|CD294|DP2" chemoattractant receptor homologous molecule expressed on T helper type 2 cells GPR44 G protein-coupled receptor 44 "Prostaglandin receptors|CD molecules" "207|471" 1999-03-12 2011-11-11 2011-11-11 2016-01-15 11251 ENSG00000183134 OTTHUMG00000167796 uc001nqc.3 AF118265 NM_004778 CCDS7994 Q9Y5Y4 10036181 MGI:1330275 RGD:1311986 604837 objectId:339 CD294 HGNC:4502 "ENST00000332539.5|NM_004778.3" +HGNC:9592 PTGDS prostaglandin D2 synthase protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "PGDS|L-PGDS" lipocalin-type prostaglandin D synthase "prostaglandin D2 synthase (21kD, brain)|prostaglandin D2 synthase 21kDa (brain)" Lipocalins 631 1993-07-13 2015-11-16 2016-10-05 5730 ENSG00000107317 OTTHUMG00000020957 uc004cke.4 AA621632 NM_000954 CCDS7019 P41222 1902577 MGI:99261 RGD:3433 176803 objectId:1380 5.3.99.2 HGNC:9592 "ENST00000371625.8|NM_000954.6" +HGNC:9593 PTGER1 prostaglandin E receptor 1 protein-coding gene gene with protein product Approved 19p13.1 19p13.1 EP1 "prostaglandin E receptor 1 (subtype EP1), 42kD|prostaglandin E receptor 1 (subtype EP1), 42kDa" Prostaglandin receptors 207 1994-07-29 2015-11-09 2015-11-09 5731 ENSG00000160951 OTTHUMG00000039610 uc002mys.3 NM_000955 CCDS12309 P34995 8253813 MGI:97793 RGD:3434 176802 objectId:340 HGNC:9593 "ENST00000292513.4|NM_000955.3" +HGNC:9594 PTGER2 prostaglandin E receptor 2 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 EP2 "prostaglandin E receptor 2 (subtype EP2), 53kD|prostaglandin E receptor 2 (subtype EP2), 53kDa" Prostaglandin receptors 207 1994-07-29 2015-11-09 2016-10-05 5732 ENSG00000125384 OTTHUMG00000140300 uc001wzr.4 NM_000956 CCDS9708 P43116 "8250933|7759114" MGI:97794 RGD:620020 176804 objectId:341 HGNC:9594 "ENST00000245457.6|NM_000956.4" +HGNC:9595 PTGER3 prostaglandin E receptor 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "EP3|lnc003875" prostaglandin E receptor 3 (subtype EP3) Prostaglandin receptors 207 1994-07-29 2015-11-16 2020-01-10 5733 ENSG00000050628 OTTHUMG00000009399 uc001dfo.4 X83863 NM_000957 "CCDS658|CCDS652|CCDS655|CCDS656|CCDS657|CCDS44160" P43115 "7759114|9073510" MGI:97795 RGD:3435 176806 objectId:342 HGNC:9595 "ENST00000306666.10|NM_198719.2" +HGNC:9596 PTGER4 prostaglandin E receptor 4 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 EP4 prostaglandin E receptor 4 (subtype EP4) Prostaglandin receptors 207 1995-09-26 2015-11-16 2015-11-16 5734 ENSG00000171522 OTTHUMG00000094769 uc003jlz.5 L28175 NM_000958 CCDS3930 P35408 "7759114|8661119" MGI:104311 RGD:628641 601586 objectId:343 HGNC:9596 "ENST00000302472.4|NM_000958.3" +HGNC:9597 PTGER4P1 prostaglandin E receptor 4 pseudogene 1 pseudogene pseudogene Approved 9p11.2 09p11.2 prostaglandin E receptor 4 (subtype EP4) pseudogene 1 1995-09-26 2015-11-16 2015-11-16 5735 NG_032179 PGOHUM00000236545 HGNC:9597 +HGNC:9598 PTGER4P2 prostaglandin E receptor 4 pseudogene 2 pseudogene pseudogene Approved 9q21.1 09q21.1 prostaglandin E receptor 4 (subtype EP4) pseudogene 2 1995-09-26 2015-11-16 2015-11-16 5736 ENSG00000184523 OTTHUMG00000058168 NG_046646 HGNC:9598 +HGNC:44749 PTGER4P2-CDK2AP2P2 PTGER4P2-CDK2AP2P2 readthrough, transcribed pseudogene other readthrough Approved 9q13 09q13 2012-12-07 2016-02-03 2016-02-03 442421 NR_024496 HGNC:44749 +HGNC:38498 PTGER4P3 prostaglandin E receptor 4 pseudogene 3 pseudogene pseudogene Approved 9q21.11 09q21.11 prostaglandin E receptor 4 (subtype EP4) pseudogene 3 2010-05-18 2015-11-16 2015-11-16 100874378 ENSG00000239684 OTTHUMG00000058665 NG_032202 HGNC:38498 +HGNC:9599 PTGES prostaglandin E synthase protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "MGST-IV|PIG12|MGST1-L1|TP53I12" "microsomal glutathione S-transferase 1-like 1|tumor protein p53 inducible protein 12|p53-induced gene 12|microsomal prostaglandin E synthase-1|glutathione S-transferase 1-like 1|MGST1-like 1" MGST1L1 1999-05-06 2016-10-05 9536 ENSG00000148344 OTTHUMG00000020791 uc004byi.4 AF010316 NM_004878 CCDS6927 O14684 "9305847|10091672" MGI:1927593 RGD:62076 605172 objectId:1377 HGNC:9599 "ENST00000340607.5|NM_004878.5" +HGNC:17822 PTGES2 prostaglandin E synthase 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 FLJ14038 C9orf15 chromosome 9 open reading frame 15 Glutaredoxin domain containing 1468 2002-01-29 2002-06-14 2002-06-13 2016-10-05 80142 ENSG00000148334 OTTHUMG00000020730 uc004bti.4 AK024100 NM_001256335 CCDS6891 Q9H7Z7 11866447 MGI:1917592 RGD:1310836 608152 objectId:1378 HGNC:17822 "ENST00000338961.11|NM_025072.7" +HGNC:48711 PTGES2-AS1 PTGES2 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Antisense RNAs 1987 2013-06-07 2013-06-07 389791 OTTHUMG00000187229 "BC141829|BC151210" NR_024425 HGNC:48711 +HGNC:16049 PTGES3 prostaglandin E synthase 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "p23|TEBP|cPGES" prostaglandin E synthase 3 (cytosolic) 2005-06-28 2015-12-04 2016-10-05 10728 ENSG00000110958 OTTHUMG00000170217 uc001slu.6 BC003005 NM_006601 "CCDS31836|CCDS73485|CCDS61160|CCDS61158|CCDS61159" Q15185 "8114727|12077419" MGI:1929282 RGD:1561913 607061 objectId:1379 HGNC:16049 "ENST00000262033.11|NM_006601.7" +HGNC:43943 PTGES3L prostaglandin E synthase 3 like protein-coding gene gene with protein product Approved 17q21.31 17q21.31 prostaglandin E synthase 3 (cytosolic)-like 2012-05-15 2016-06-27 2016-11-10 100885848 ENSG00000267060 OTTHUMG00000180906 uc060fqh.1 NM_001142653 CCDS45692 E9PB15 MGI:1916146 RGD:9413039 HGNC:43943 "ENST00000591916.7|NM_001261430.2" +HGNC:43946 PTGES3L-AARSD1 PTGES3L-AARSD1 readthrough other readthrough Approved 17q21.31 17q21.31 2012-05-15 2016-06-27 100885850 ENSG00000108825 OTTHUMG00000180905 uc010whg.3 NM_025267 "CCDS45691|CCDS11447" Q9BTE6 MGI:1916934 HGNC:43946 +HGNC:43824 PTGES3P1 prostaglandin E synthase 3 pseudogene 1 pseudogene pseudogene Approved 1p22.2 01p22.2 prostaglandin E synthase 3 (cytosolic) pseudogene 1 2012-03-14 2016-06-27 2016-06-27 284672 ENSG00000234518 OTTHUMG00000010660 NG_007034 HGNC:43824 +HGNC:43822 PTGES3P2 prostaglandin E synthase 3 pseudogene 2 pseudogene pseudogene Approved 2p23.3 02p23.3 prostaglandin E synthase 3 (cytosolic) pseudogene 2 2012-03-14 2016-06-27 2016-06-27 101929293 ENSG00000217643 OTTHUMG00000152177 NG_042890 PGOHUM00000240601 HGNC:43822 +HGNC:43823 PTGES3P3 prostaglandin E synthase 3 pseudogene 3 pseudogene pseudogene Approved 4q33 04q33 prostaglandin E synthase 3 (cytosolic) pseudogene 3 2012-03-14 2016-06-27 2016-06-27 441050 ENSG00000229204 OTTHUMG00000160905 NG_007035 PGOHUM00000245765 HGNC:43823 +HGNC:43825 PTGES3P4 prostaglandin E synthase 3 pseudogene 4 pseudogene pseudogene Approved 10q24.32 10q24.32 prostaglandin E synthase 3 (cytosolic) pseudogene 4 2012-03-14 2016-06-27 2016-06-27 106480775 ENSG00000236937 OTTHUMG00000018973 NG_043971 PGOHUM00000238907 HGNC:43825 +HGNC:43826 PTGES3P5 prostaglandin E synthase 3 pseudogene 5 pseudogene pseudogene Approved 10q25.1 10q25.1 prostaglandin E synthase 3 (cytosolic) pseudogene 5 2012-03-14 2016-06-27 2016-06-27 106480359 ENSG00000234544 OTTHUMG00000019021 NG_044738 PGOHUM00000238912 HGNC:43826 +HGNC:9600 PTGFR prostaglandin F receptor protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FP FP prostanoid receptor prostaglandin F receptor (FP) Prostaglandin receptors 207 1994-07-29 2016-01-25 2017-07-12 5737 ENSG00000122420 OTTHUMG00000009644 uc057hvr.1 AF004021 NM_000959 "CCDS686|CCDS30759" P43088 "8300593|7759114" MGI:97796 RGD:3436 600563 objectId:344 HGNC:9600 "ENST00000370757.8|NM_000959.4" +HGNC:9601 PTGFRN prostaglandin F2 receptor inhibitor protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "FPRP|EWI-F|CD9P-1|FLJ11001|KIAA1436|SMAP-6|CD315" prostaglandin F2 receptor negative regulator "CD molecules|V-set domain containing" "471|590" 1997-10-31 2013-01-25 2014-11-19 5738 ENSG00000134247 OTTHUMG00000012028 uc001egv.2 AB014734 NM_020440 CCDS890 Q9P2B2 8655148 MGI:1277114 RGD:3437 601204 CD315 HGNC:9601 "ENST00000393203.3|NM_020440.4" +HGNC:9602 PTGIR prostaglandin I2 receptor protein-coding gene gene with protein product Approved 19q13.32 19q13.32 IP prostacyclin receptor prostaglandin I2 (prostacyclin) receptor (IP) Prostaglandin receptors 207 1994-07-29 2017-08-08 2017-08-08 5739 ENSG00000160013 OTTHUMG00000183429 uc002pex.4 NM_000960 CCDS12686 P43119 7759114 MGI:99535 RGD:1310890 600022 objectId:345 HGNC:9602 "ENST00000291294.7|NM_000960.4" +HGNC:9603 PTGIS prostaglandin I2 synthase protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "PGIS|CYP8A1" "cytochrome P450, family 8, subfamily A, polypeptide 1|prostacyclin synthase" prostaglandin I2 (prostacyclin) synthase Cytochrome P450 family 8 1006 1994-07-28 2016-09-12 2019-10-07 5740 ENSG00000124212 OTTHUMG00000033077 uc002xut.4 NM_000961 CCDS13419 Q16647 8812456 MGI:1097156 RGD:3438 PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/PTGIS 601699 objectId:1356 5.3.99.4 HGNC:9603 "ENST00000244043.5|NM_000961.4" HGNC:9603 +HGNC:18429 PTGR1 prostaglandin reductase 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 ZADH3 zinc binding alcohol dehydrogenase domain containing 3 LTB4DH leukotriene B4 12-hydroxydehydrogenase 2002-09-19 2008-06-02 2008-06-02 2016-10-05 22949 ENSG00000106853 OTTHUMG00000020493 uc004bfi.3 D49387 NM_001146108 "CCDS55331|CCDS6779" Q14914 "8576264|17449869" MGI:1914353 RGD:621195 601274 "1.3.1.74|1.3.1.48" HGNC:18429 "ENST00000407693.7|NM_001146108.2" +HGNC:20149 PTGR2 prostaglandin reductase 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ39091 ZADH1 zinc binding alcohol dehydrogenase domain containing 1 2002-12-20 2008-06-03 2008-06-02 2016-01-15 145482 ENSG00000140043 OTTHUMG00000171255 uc001xow.5 AK096410 NM_001146154 CCDS9820 Q8N8N7 17449869 MGI:1916372 RGD:1310518 608642 HGNC:20149 "ENST00000555661.6|NM_001146154.2" +HGNC:28697 PTGR3 prostaglandin reductase 3 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "MGC45594|PTGR-3" prostaglandin reductase-3 ZADH2 zinc binding alcohol dehydrogenase domain containing 2 2004-06-17 2022-02-01 2022-02-01 2022-02-01 284273 ENSG00000180011 OTTHUMG00000132858 uc002llx.4 BC033780 NM_175907 "CCDS77198|CCDS12008" Q8N4Q0 23821743 MGI:2444835 RGD:1309999 HGNC:28697 "ENST00000322342.4|NM_175907.6" +HGNC:9604 PTGS1 prostaglandin-endoperoxide synthase 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "COX1|PGHS-1|PTGHS" cyclooxygenase-1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 1992-10-27 2016-03-24 2021-04-13 5742 ENSG00000095303 OTTHUMG00000020605 uc004bmg.3 M59979 NM_000962 "CCDS6843|CCDS6842|CCDS75895|CCDS59520|CCDS59521" P23219 "2512924|1907252" MGI:97797 RGD:3439 LRG_639|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_639.xml 176805 470922 objectId:1375 1.14.99.1 HGNC:9604 "ENST00000362012.7|NM_000962.4" +HGNC:9605 PTGS2 prostaglandin-endoperoxide synthase 2 protein-coding gene gene with protein product Approved 1q31.1 01q31.1 COX2 "prostaglandin G/H synthase 2|cyclooxygenase 2" prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 1992-10-28 2016-01-25 2016-10-05 5743 ENSG00000073756 OTTHUMG00000035473 uc001gsb.4 D28235 NM_000963 CCDS1371 P35354 1380156 MGI:97798 RGD:620349 600262 470924 objectId:1376 1.14.99.1 HGNC:9605 "ENST00000367468.10|NM_000963.4" +HGNC:9606 PTH parathyroid hormone protein-coding gene gene with protein product Approved 11p15.3 11p15.3 PTH1 "parathyrin|parathormone|parathyroid hormone 1|preproparathyroid hormone|prepro-PTH" Receptor ligands 542 2001-06-22 2016-01-15 5741 ENSG00000152266 OTTHUMG00000165785 uc057zha.1 J00301 NM_000315 CCDS7812 P01270 1672845 MGI:97799 RGD:3440 168450 118138 ligandId:1785 HGNC:9606 "ENST00000282091.6|NM_000315.4" HGNC:9606 +HGNC:9608 PTH1R parathyroid hormone 1 receptor protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "PTHR|PTHR1" parathyroid hormone receptor 1 Parathyroid hormone receptors 270 1993-03-23 2008-11-18 2008-11-18 2016-10-05 5745 ENSG00000160801 OTTHUMG00000133515 uc003cqm.4 NM_000316 CCDS2747 Q03431 8020952 MGI:97801 RGD:3442 168468 118140 objectId:331 HGNC:9608 "ENST00000449590.6|NM_000316.3" HGNC:9608 +HGNC:30828 PTH2 parathyroid hormone 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 TIP39 tuberoinfundibular 39 residues Receptor ligands 542 2007-12-07 2020-04-01 113091 ENSG00000142538 OTTHUMG00000183165 uc002pnn.1 AY037555 NM_178449 CCDS12763 Q96A98 11861531 MGI:2152297 RGD:1559447 608386 ligandId:1815 HGNC:30828 "ENST00000270631.2|NM_178449.4" +HGNC:9609 PTH2R parathyroid hormone 2 receptor protein-coding gene gene with protein product Approved 2q34 02q34 PTHR2 parathyroid hormone receptor 2 Parathyroid hormone receptors 270 1996-03-19 2007-08-24 2007-08-24 2016-10-05 5746 ENSG00000144407 OTTHUMG00000132960 uc002vdb.5 BC036811 NM_005048 "CCDS82565|CCDS2383" P49190 MGI:2180917 RGD:620612 601469 470926 objectId:332 HGNC:9609 "ENST00000272847.7|NM_005048.4" +HGNC:9607 PTHLH parathyroid hormone like hormone protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "PTHRP|HHM|PLP|PTHR" "osteostatin|parathyroid hormone-like hormone preproprotein|parathyroid hormone-related protein preproprotein" "Receptor ligands|Neuropeptides" "542|1902" 2001-06-22 2016-07-07 2016-10-05 5744 ENSG00000087494 OTTHUMG00000169221 uc001rin.4 NM_198965 "CCDS8715|CCDS44853" P12272 2708388 MGI:97800 RGD:3441 168470 227063 ligandId:3738 HGNC:9607 "ENST00000545234.6|NM_198965.2" HGNC:9607 +HGNC:9611 PTK2 protein tyrosine kinase 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FAK|FADK|FAK1|PPP1R71" protein phosphatase 1, regulatory subunit 71 PTK2 protein tyrosine kinase 2 "Protein phosphatase 1 regulatory subunits|FERM domain containing|PTK2 family tyrosine kinases|MicroRNA protein coding host genes" "694|1293|1644|1691" 1992-10-02 2013-02-18 2014-11-18 5747 ENSG00000169398 OTTHUMG00000067438 uc003yvu.4 L13616 NM_005607 "CCDS6381|CCDS87628|CCDS56557" Q05397 8422239 MGI:95481 RGD:3443 600758 objectId:2180 2.7.10.1 HGNC:9611 +HGNC:9612 PTK2B protein tyrosine kinase 2 beta protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "CAKB|PYK2|RAFTK|PTK|CADTK" FAK2 FAK2 "Minor histocompatibility antigens|FERM domain containing|PTK2 family tyrosine kinases|MicroRNA protein coding host genes" "870|1293|1644|1691" 1998-06-22 2013-02-18 2017-12-06 2185 ENSG00000120899 OTTHUMG00000102082 uc003xfn.3 U33284 NM_004103 "CCDS6057|CCDS6058" Q14289 "7544443|7499242" MGI:104908 RGD:628758 601212 objectId:2181 HGNC:9612 "ENST00000346049.10|NM_173176.3" +HGNC:9617 PTK6 protein tyrosine kinase 6 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 BRK PTK6 protein tyrosine kinase 6 "SH2 domain containing|PTK6 family tyrosine kinases" "741|1645" 1992-10-02 2013-02-18 2016-10-05 5753 ENSG00000101213 OTTHUMG00000033039 uc002yfg.5 U61412 NM_001256358 "CCDS74750|CCDS13524" Q13882 "8247543|9284935" MGI:99683 RGD:1309098 PTK6 602004 objectId:2182 2.7.10.1 HGNC:9617 "ENST00000542869.3|NM_005975.4" +HGNC:9618 PTK7 protein tyrosine kinase 7 (inactive) protein-coding gene gene with protein product Approved 6p21.1 06p21.1 CCK4 colon carcinoma kinase 4 "PTK7 protein tyrosine kinase 7|protein tyrosine kinase 7" "Receptor tyrosine kinases|I-set domain containing" "321|593" 1992-10-02 2014-12-19 2018-04-30 5754 ENSG00000112655 OTTHUMG00000014721 uc003oub.3 AF447176 NM_002821 "CCDS4886|CCDS4885|CCDS4887|CCDS59021|CCDS4884" Q13308 7478540 MGI:1918711 RGD:1310472 601890 470928 objectId:1848 2.7.10.1 HGNC:9618 "ENST00000230419.9|NM_002821.5" +HGNC:9623 PTMA prothymosin alpha protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "gene sequence 28|prothymosin-α" TMSA "prothymosin, alpha (gene sequence 28)|prothymosin, alpha" MicroRNA protein coding host genes 1691 1991-07-15 2018-01-23 2018-04-18 5757 ENSG00000187514 OTTHUMG00000153810 uc002vsc.5 NM_001099285 "CCDS46541|CCDS42833" P06454 1612591 MGI:97803 RGD:61829 188390 HGNC:9623 "ENST00000409115.8|NM_002823.5" +HGNC:9624 PTMAP1 prothymosin alpha pseudogene 1 pseudogene pseudogene Approved 6p21.33 06p21.33 Em:AB023049.6 "prothymosin, alpha pseudogene 1 (gene sequence 26)|prothymosin, alpha pseudogene 1" 1991-12-11 2018-01-23 2018-01-23 5758 ENSG00000228415 OTTHUMG00000031235 S41692 NG_004833 1612591 HGNC:9624 +HGNC:9625 PTMAP2 prothymosin alpha pseudogene 2 pseudogene pseudogene Approved 5q23.1 05q23.1 "prothymosin, alpha pseudogene 2 (gene sequence 32)|prothymosin, alpha pseudogene 2" 1991-12-11 2018-01-23 2018-01-23 5759 ENSG00000197744 OTTHUMG00000162960 S41694 NG_002765 1612591 HGNC:9625 +HGNC:9626 PTMAP3 prothymosin alpha pseudogene 3 pseudogene pseudogene Approved 20p11.23 20p11.23 "prothymosin, alpha pseudogene 3 (gene sequence 34)|prothymosin, alpha pseudogene 3" 1991-12-11 2018-01-23 2018-01-23 5760 ENSG00000218902 OTTHUMG00000031954 S41695 NG_001180 1612591 HGNC:9626 +HGNC:9627 PTMAP4 prothymosin alpha pseudogene 4 pseudogene pseudogene Approved 12p13.31 12p13.31 "prothymosin, alpha pseudogene 4 (gene sequence 112)|prothymosin, alpha pseudogene 4" 1991-12-11 2018-01-23 2018-01-23 5761 ENSG00000231503 OTTHUMG00000168331 S38624 NG_001181 1612591 HGNC:9627 +HGNC:9628 PTMAP5 prothymosin alpha pseudogene 5 pseudogene pseudogene Approved 13q31.1 13q31.1 gene sequence 150 "prothymosin, alpha pseudogene 5 (gene sequence 150)|prothymosin, alpha pseudogene 5" 1991-12-11 2018-01-23 2018-01-23 150928 ENSG00000214182 OTTHUMG00000017147 S38627 NG_004798 1612591 HGNC:9628 +HGNC:16573 PTMAP6 prothymosin alpha pseudogene 6 pseudogene pseudogene Approved 20q13.31 20q13.31 dJ539E24.2 prothymosin, alpha pseudogene 6 2001-09-17 2018-01-23 2018-01-23 170542 ENSG00000237000 OTTHUMG00000032804 AL121920 NG_001051 HGNC:16573 +HGNC:20031 PTMAP7 prothymosin alpha pseudogene 7 pseudogene pseudogene Approved 14q32.12 14q32.12 prothymosin, alpha pseudogene 7 2003-01-13 2018-01-23 2018-01-23 326626 NG_016970 HGNC:20031 +HGNC:42437 PTMAP8 prothymosin alpha pseudogene 8 pseudogene pseudogene Approved 3q13.31 03q13.31 prothymosin, alpha pseudogene 8 2011-07-27 2018-01-23 2018-01-23 728873 ENSG00000243014 OTTHUMG00000159348 NG_031895 HGNC:42437 +HGNC:34054 PTMAP9 prothymosin alpha pseudogene 9 pseudogene pseudogene Approved 12p13.2 12p13.2 2018-08-03 2018-08-03 100506248 ENSG00000198134 OTTHUMG00000168539 NG_061445 HGNC:34054 +HGNC:53978 PTMAP10 prothymosin alpha pseudogene 10 pseudogene pseudogene Approved 7q33 07q33 2018-08-03 2019-04-02 442727 ENSG00000213237 OTTHUMG00000155876 NG_009434 HGNC:53978 +HGNC:53979 PTMAP11 prothymosin alpha pseudogene 11 pseudogene pseudogene Approved 9q22.33 09q22.33 2018-08-03 2018-08-03 441454 ENSG00000269907 OTTHUMG00000020306 NR_028350 HGNC:53979 +HGNC:53982 PTMAP12 prothymosin alpha pseudogene 12 pseudogene pseudogene Approved 9q22.32 09q22.32 2018-08-07 2019-04-02 728026 ENSG00000282886 OTTHUMG00000191515 NG_061469 HGNC:53982 +HGNC:53983 PTMAP13 prothymosin alpha pseudogene 13 pseudogene pseudogene Approved 17q25.1 17q25.1 2018-08-07 2018-08-07 105371898 NG_061475 HGNC:53983 +HGNC:53984 PTMAP14 prothymosin alpha pseudogene 14 pseudogene pseudogene Approved Xp22.2 Xp22.2 2018-08-07 2018-08-07 105373140 NG_061479 HGNC:53984 +HGNC:53985 PTMAP15 prothymosin alpha pseudogene 15 pseudogene pseudogene Approved 8q22.3 08q22.3 2018-08-07 2018-08-07 112935968 ENSG00000255105 OTTHUMG00000165288 NG_064183 HGNC:53985 +HGNC:9629 PTMS parathymosin protein-coding gene gene with protein product Approved 12p13.31 12p13.31 ParaT 1990-09-10 2019-08-20 5763 ENSG00000159335 OTTHUMG00000169196 uc001qqq.3 NM_001330333 "CCDS81656|CCDS8560" P20962 15716277 MGI:1916452 RGD:621529 168440 HGNC:9629 "ENST00000309083.8|NM_002824.6" +HGNC:9630 PTN pleiotrophin protein-coding gene gene with protein product Approved 7q33 07q33 "HBNF|HBGF8" heparin binding growth factor 8 NEGF1 neurite growth-promoting factor 1 Receptor ligands 542 1993-06-22 2008-07-31 2014-11-19 5764 ENSG00000105894 OTTHUMG00000155709 uc003vtq.4 M57399 NM_002825 CCDS5844 P21246 "1457401|1768439" MGI:97804 RGD:3444 162095 ligandId:6618 HGNC:9630 "ENST00000348225.7|NM_002825.7" +HGNC:9632 PTOV1 PTOV1 extended AT-hook containing adaptor protein protein-coding gene gene with protein product Approved 19q13.33 19q13.33 prostate tumor overexpressed 1 MicroRNA protein coding host genes 1691 2000-05-18 2019-01-21 2019-01-21 53635 ENSG00000104960 OTTHUMG00000183162 uc002pqf.2 AF238381 NM_017432 "CCDS82379|CCDS12782" Q86YD1 "12598323|15713644|26156556" MGI:1933946 RGD:1306977 610195 HGNC:9632 +HGNC:44174 PTOV1-AS1 PTOV1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 PTOV1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2020-10-09 100506033 ENSG00000268006 OTTHUMG00000183257 uc002ppy.5 BC043359 NR_040037 PTOV1-AS1 HGNC:44174 +HGNC:51284 PTOV1-AS2 PTOV1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 Antisense RNAs 1987 2014-08-28 2015-01-08 101928378 ENSG00000269352 OTTHUMG00000183259 NR_110730 PTOV1-AS2 HGNC:51284 +HGNC:9634 PTP4A1 protein tyrosine phosphatase 4A1 protein-coding gene gene with protein product Approved 6q12 06q12 "PTPCAAX1|PRL-1|PRL1" phosphatase of regenerating liver 1 protein tyrosine phosphatase type IVA, member 1 Protein tyrosine phosphatase 4A family 899 1998-09-02 2019-02-14 2019-02-14 7803 ENSG00000112245 OTTHUMG00000014949 uc003pel.5 U48296 NM_001385254 CCDS4965 Q93096 9642300 MGI:1277096 RGD:61970 601585 HGNC:9634 "ENST00000626021.3|NM_003463.5" +HGNC:41928 PTP4A1P1 PTP4A1 pseudogene 1 pseudogene pseudogene Approved 2q24.1 02q24.1 protein tyrosine phosphatase type IVA, member 1 pseudogene 1 2011-05-19 2019-02-14 2019-02-14 100421652 ENSG00000231158 OTTHUMG00000153916 NG_023744 PGOHUM00000240994 HGNC:41928 +HGNC:41929 PTP4A1P2 PTP4A1 pseudogene 2 pseudogene pseudogene Approved 12q24.33 12q24.33 protein tyrosine phosphatase type IVA, member 1 pseudogene 2 2011-05-19 2019-02-14 2019-02-14 100499563 ENSG00000255807 OTTHUMG00000167938 NG_027516 PGOHUM00000291840 HGNC:41929 +HGNC:41930 PTP4A1P3 PTP4A1 pseudogene 3 pseudogene pseudogene Approved 7q21.13 07q21.13 protein tyrosine phosphatase type IVA, member 1 pseudogene 3 2011-05-19 2019-02-14 2019-02-14 100861469 ENSG00000226254 OTTHUMG00000033517 NG_032021 PGOHUM00000233468 HGNC:41930 +HGNC:41931 PTP4A1P4 PTP4A1 pseudogene 4 pseudogene pseudogene Approved 5q14.3 05q14.3 protein tyrosine phosphatase type IVA, member 1 pseudogene 4 2011-05-19 2019-02-14 2019-02-14 100129564 ENSG00000250359 OTTHUMG00000162586 NG_029015 PGOHUM00000235686 HGNC:41931 +HGNC:41932 PTP4A1P5 PTP4A1 pseudogene 5 pseudogene pseudogene Approved Xp21.3 Xp21.3 protein tyrosine phosphatase type IVA, member 1 pseudogene 5 2011-05-19 2019-02-14 2019-02-14 100289380 ENSG00000235642 OTTHUMG00000021299 NG_022587 PGOHUM00000241217 HGNC:41932 +HGNC:41933 PTP4A1P6 PTP4A1 pseudogene 6 pseudogene pseudogene Approved 11q14.2 11q14.2 protein tyrosine phosphatase type IVA, member 1 pseudogene 6 2011-05-19 2019-02-14 2019-02-14 100129472 ENSG00000254727 OTTHUMG00000167215 NG_028980 PGOHUM00000242835 HGNC:41933 +HGNC:41934 PTP4A1P7 PTP4A1 pseudogene 7 pseudogene pseudogene Approved 1q25.2 01q25.2 protein tyrosine phosphatase type IVA, member 1 pseudogene 7 2011-05-19 2019-02-14 2019-02-14 100421681 ENSG00000237514 OTTHUMG00000035043 NG_023390 PGOHUM00000244350 HGNC:41934 +HGNC:9635 PTP4A2 protein tyrosine phosphatase 4A2 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "HU-PP-1|PTPCAAX2|OV-1|ptp-IV1a|PRL-2|PRL2" phosphatase of regenerating liver 2 PTP4A protein tyrosine phosphatase type IVA, member 2 Protein tyrosine phosphatase 4A family 899 1996-03-14 2019-02-14 2019-02-14 8073 ENSG00000184007 OTTHUMG00000003801 uc001bty.2 L48723 NM_080391 "CCDS348|CCDS53292|CCDS59193" Q12974 "8661118|9514946" MGI:1277117 RGD:619786 601584 HGNC:9635 "ENST00000647444.2|NM_080391.4" +HGNC:9637 PTP4A2P1 PTP4A2 pseudogene 1 pseudogene pseudogene Approved 17q21.2 17q21.2 h-PRL-1 PTP4AP1 "protein tyrosine phosphatase type IVA pseudogene 1|protein tyrosine phosphatase type IVA, member 2 pseudogene 1" 1996-03-14 2009-12-03 2019-02-14 2019-02-14 5767 ENSG00000267185 OTTHUMG00000180239 NG_004085 "8661118|8931711" PGOHUM00000294439 HGNC:9637 +HGNC:9638 PTP4A2P2 PTP4A2 pseudogene 2 pseudogene pseudogene Approved 11q25 11q25 PTP4AP2 "protein tyrosine phosphatase type IVA pseudogene 2|protein tyrosine phosphatase type IVA, member 2 pseudogene 2" 1996-03-14 2009-12-03 2019-02-14 2019-02-14 5769 ENSG00000254481 OTTHUMG00000167127 L48937 NG_028348 "8661118|8931711" PGOHUM00000290767 HGNC:9638 +HGNC:9636 PTP4A3 protein tyrosine phosphatase 4A3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "PRL-3|PRL-R|PRL3" phosphatase of regenerating liver 3 protein tyrosine phosphatase type IVA, member 3 Protein tyrosine phosphatase 4A family 899 1999-09-09 2019-02-14 2019-02-14 11156 ENSG00000184489 OTTHUMG00000164490 uc010mes.5 AF041434 NM_032611 "CCDS6383|CCDS6382" O75365 MGI:1277098 RGD:1308687 606449 HGNC:9636 "ENST00000521578.6|NM_032611.3" +HGNC:9308 PTPA protein phosphatase 2 phosphatase activator protein-coding gene gene with protein product Approved 9q34.11 09q34.11 PR53 "phosphotyrosyl phosphatase activator|PP2A phosphatase activator" PPP2R4 "protein phosphatase 2A, regulatory subunit B' (PR 53)|protein phosphatase 2A activator, regulatory subunit 4|protein phosphatase 2 regulatory subunit 4" "Cyclophilin peptidylprolyl isomerases|Protein phosphatase 2 modulatory subunits" "909|1265" 1994-06-09 2016-05-27 2016-05-27 2016-10-05 5524 ENSG00000119383 OTTHUMG00000020774 uc004bxl.3 X73478 NM_021131 "CCDS65156|CCDS75917|CCDS6920" Q15257 "8530035|16380387" MGI:1346006 RGD:1308354 600756 HGNC:9308 "ENST00000393370.7|NM_178000.3" +HGNC:30184 PTPDC1 protein tyrosine phosphatase domain containing 1 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "PTP9Q22|FLJ37312" protein tyrosine phosphatase PTP9Q22 CDC14 phosphatases 900 2004-04-22 2014-11-19 138639 ENSG00000158079 OTTHUMG00000020258 uc010mrj.3 BC051654 "NM_177995|NM_152422" "CCDS75860|CCDS6707|CCDS6708" A2A3K4 14702039 MGI:2145430 RGD:1307698 HGNC:30184 "ENST00000620992.5|NM_001253829.2" +HGNC:26965 PTPMT1 protein tyrosine phosphatase mitochondrial 1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "PLIP|DUSP23|MOSP" "PTEN-like phosphatase|phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1" "Atypical dual specificity phosphatases|Phosphoinositide phosphatases" "896|1079" 2005-03-15 2019-02-14 2019-02-14 114971 ENSG00000110536 OTTHUMG00000166892 uc001nfs.5 BC014048 NM_175732 "CCDS44593|CCDS41643" Q8WUK0 21730175 MGI:1913711 RGD:1589783 609538 "3.1.3.16|3.1.3.27|3.1.3.48" HGNC:26965 "ENST00000326674.10|NM_175732.3" +HGNC:9642 PTPN1 protein tyrosine phosphatase non-receptor type 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 PTP1B Protein tyrosine phosphatases non-receptor type 812 1991-09-13 2019-02-14 2019-02-14 5770 ENSG00000196396 OTTHUMG00000032729 uc002xvl.5 NM_001278618 "CCDS63309|CCDS13430" P18031 2164224 MGI:97805 RGD:61965 176885 objectId:2976 HGNC:9642 "ENST00000371621.5|NM_002827.4" +HGNC:9650 PTPN2 protein tyrosine phosphatase non-receptor type 2 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "TCELLPTP|TC-PTP|TCPTP" PTPT Protein tyrosine phosphatases non-receptor type 812 1991-09-13 2019-02-14 2019-02-14 5771 ENSG00000175354 OTTHUMG00000131702 uc002krp.4 M25393 "NM_002828|NM_080422|NM_080423" "CCDS11864|CCDS59306|CCDS77155|CCDS11865|CCDS11863" P17706 2164224 MGI:97806 RGD:620710 176887 306416 HGNC:9650 "ENST00000309660.10|NM_002828.4" +HGNC:9653 PTPN2P1 PTPN2 pseudogene 1 pseudogene pseudogene Approved 1q25.2 01q25.2 "PTPN2P|PTPTP1" "protein tyrosine phosphatase, non-receptor type 2 (pseudogene 1)|protein tyrosine phosphatase, non-receptor type 2 pseudogene 1" 1991-09-13 2019-02-14 2020-04-20 646981 ENSG00000228196 OTTHUMG00000035074 NG_006956 8325634 PGOHUM00000244353 HGNC:9653 +HGNC:9654 PTPN2P2 PTPN2 pseudogene 2 pseudogene pseudogene Approved 13q12.3 13q12.3 "protein tyrosine phosphatase, non-receptor type 2 (pseudogene 2)|protein tyrosine phosphatase, non-receptor type 2 pseudogene 2" 1993-03-03 2019-02-14 2020-04-20 646758 ENSG00000224117 OTTHUMG00000016674 NG_011398 8325634 PGOHUM00000248558 HGNC:9654 +HGNC:9655 PTPN3 protein tyrosine phosphatase non-receptor type 3 protein-coding gene gene with protein product Approved 9q31 09q31 PTPH1 "Protein tyrosine phosphatases non-receptor type|PDZ domain containing|FERM domain containing|MicroRNA protein coding host genes" "812|1220|1293|1691" 1992-02-12 2019-02-14 2019-02-14 5774 ENSG00000070159 OTTHUMG00000020475 uc004bed.3 NM_001145368 "CCDS6776|CCDS48000|CCDS48001" P26045 1648725 MGI:105307 RGD:1311363 176877 402744 HGNC:9655 "ENST00000374541.4|NM_002829.4" HGNC:9655 +HGNC:9656 PTPN4 protein tyrosine phosphatase non-receptor type 4 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 PTPMEG protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) "Protein tyrosine phosphatases non-receptor type|PDZ domain containing|FERM domain containing" "812|1220|1293" 1992-02-12 2019-02-14 2019-02-14 5775 ENSG00000088179 OTTHUMG00000131436 uc002tmf.3 NM_002830 CCDS2129 P29074 1648233 MGI:1099792 RGD:620712 176878 HGNC:9656 "ENST00000263708.7|NM_002830.4" +HGNC:9657 PTPN5 protein tyrosine phosphatase non-receptor type 5 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "STEP|PTPSTEP|STEP61" striatal-enriched protein tyrosine phosphatase protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) Protein tyrosine phosphatases non-receptor type 812 1992-02-12 2019-02-14 2019-02-14 84867 ENSG00000110786 OTTHUMG00000134304 uc001mpd.5 BC064807 NM_001039970 "CCDS7845|CCDS41626|CCDS60746" P54829 1714595 MGI:97807 RGD:3448 176879 HGNC:9657 "ENST00000358540.7|NM_006906.2" +HGNC:9658 PTPN6 protein tyrosine phosphatase non-receptor type 6 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "HCP|HCPH|PTP-1C|SHP-1|SHP1" "SH2 domain containing|Protein tyrosine phosphatases non-receptor type" "741|812" 1992-02-12 2019-02-14 2019-02-14 5777 ENSG00000111679 OTTHUMG00000168518 uc001qsa.1 NM_002831 "CCDS44821|CCDS41744|CCDS44820" P29350 1639416 MGI:96055 RGD:620660 176883 470932 HGNC:9658 "ENST00000318974.14|NM_002831.6" +HGNC:9659 PTPN7 protein tyrosine phosphatase non-receptor type 7 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "HEPTP|LC-PTP" Protein tyrosine phosphatases non-receptor type 812 1993-03-03 2019-02-14 2019-02-14 5778 ENSG00000143851 OTTHUMG00000035931 uc001gxm.3 BC001746 NM_002832 CCDS1422 P35236 1510684 MGI:2156893 RGD:708516 176889 HGNC:9659 "ENST00000691036.1|NM_002832.4" +HGNC:9661 PTPN9 protein tyrosine phosphatase non-receptor type 9 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 MEG2 Protein tyrosine phosphatases non-receptor type 812 1993-03-03 2019-02-14 2019-02-14 5780 ENSG00000169410 OTTHUMG00000142838 uc002bal.5 NM_002833 CCDS10280 P43378 1557404 MGI:1928376 RGD:628726 600768 HGNC:9661 "ENST00000618819.5|NM_002833.4" +HGNC:9644 PTPN11 protein tyrosine phosphatase non-receptor type 11 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "BPTP3|SH-PTP2|SHP-2|PTP2C|SHP2" SH2 domain-containing protein tyrosine phosphatase 2 NS1 "Noonan syndrome 1|protein tyrosine phosphatase, non-receptor type 11" "SH2 domain containing|Protein tyrosine phosphatases non-receptor type" "741|812" 1993-03-03 2019-02-14 2021-05-26 5781 ENSG00000179295 OTTHUMG00000134334 uc001ttx.4 D13540 NM_001330437 "CCDS58280|CCDS81741|CCDS9163" Q06124 "7894486|1280823" MGI:99511 RGD:3447 LRG_614|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_614.xml PTPN11 176876 118143 HGNC:9644 "ENST00000351677.7|NM_002834.5" HGNC:9644 +HGNC:9645 PTPN12 protein tyrosine phosphatase non-receptor type 12 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "PTPG1|PTP-PEST" Protein tyrosine phosphatases non-receptor type 812 1993-03-03 2019-02-14 2019-02-14 5782 ENSG00000127947 OTTHUMG00000023501 uc003ugh.3 NM_001131008 "CCDS5592|CCDS47619|CCDS47620" Q05209 7509295 MGI:104673 RGD:620894 600079 470930 HGNC:9645 "ENST00000248594.11|NM_002835.4" +HGNC:9646 PTPN13 protein tyrosine phosphatase non-receptor type 13 protein-coding gene gene with protein product Approved 4q21.3 04q21.3 "PTP1E|PTP-BAS|PTPL1|PTP-BL" APO-1/CD95 (Fas)-associated phosphatase protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) "Protein tyrosine phosphatases non-receptor type|PDZ domain containing|FERM domain containing" "812|1220|1293" 1995-02-17 2019-02-14 2019-02-14 5783 ENSG00000163629 OTTHUMG00000160968 uc003hpz.4 NM_006264 "CCDS47093|CCDS47094|CCDS47095|CCDS47096" Q12923 8287977 MGI:103293 RGD:1563360 PTPN13 600267 HGNC:9646 "ENST00000411767.7|NM_080683.3" +HGNC:9647 PTPN14 protein tyrosine phosphatase non-receptor type 14 protein-coding gene gene with protein product Approved 1q32.3-q41 01q32.3-q41 "PEZ|PTPD2" "Protein tyrosine phosphatases non-receptor type|FERM domain containing" "812|1293" 1995-02-22 2019-02-14 2021-05-26 5784 ENSG00000152104 OTTHUMG00000037039 uc001hkk.3 X82676 NM_005401 CCDS1514 Q15678 "7733990|16534812" MGI:102467 RGD:1307885 603155 468087 HGNC:9647 "ENST00000366956.10|NM_005401.5" HGNC:9647 +HGNC:9649 PTPN18 protein tyrosine phosphatase non-receptor type 18 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 BDP1 brain derived phosphatase protein tyrosine phosphatase, non-receptor type 18 (brain-derived) Protein tyrosine phosphatases non-receptor type 812 2000-01-04 2019-02-14 2019-02-14 26469 ENSG00000072135 OTTHUMG00000131630 uc002trc.3 X79568 NM_001142370 "CCDS2161|CCDS46410" Q99952 8950995 MGI:108410 RGD:1311586 606587 469988 HGNC:9649 "ENST00000175756.10|NM_014369.4" +HGNC:23423 PTPN20 protein tyrosine phosphatase non-receptor type 20 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "bA42B19.1|DKFZP566K0524|bA142I17.1|CT126" "PTPN20A|PTPN20B" "protein tyrosine phosphatase, non-receptor type 20A|protein tyrosine phosphatase, non-receptor type 20B" Protein tyrosine phosphatases non-receptor type 812 2004-05-27 2015-03-02 2019-02-14 2019-02-14 26095 ENSG00000204179 OTTHUMG00000018094 NM_015605 "CCDS73110|CCDS73111|CCDS81454|CCDS86087|CCDS73114|CCDS73115|CCDS73116|CCDS73107|CCDS81456|CCDS73106|CCDS73108|CCDS73105|CCDS73109" Q4JDL3 15790311 MGI:1196295 RGD:1309812 610630 HGNC:23423 "ENST00000374339.5|NM_001042357.5" +HGNC:23424 PTPN20CP protein tyrosine phosphatase non-receptor type 20C, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 bA164N7.3 PTPN20C protein tyrosine phosphatase, non-receptor type 20C Protein tyrosine phosphatases non-receptor type 812 2004-05-27 2013-04-02 2019-02-14 2019-02-14 653045 ENSG00000278561 OTTHUMG00000018166 NG_005691 HGNC:23424 +HGNC:9651 PTPN21 protein tyrosine phosphatase non-receptor type 21 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "PTPD1|PTPRL10" "Protein tyrosine phosphatases non-receptor type|FERM domain containing" "812|1293" 1999-09-07 2019-02-14 2019-04-16 11099 ENSG00000070778 OTTHUMG00000170766 uc001xwv.5 X79510 NM_007039 CCDS9884 Q16825 7519780 MGI:1344406 RGD:620216 603271 HGNC:9651 "ENST00000556564.6|NM_007039.4" +HGNC:9652 PTPN22 protein tyrosine phosphatase non-receptor type 22 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "Lyp|Lyp1|Lyp2" PTPN8 "protein tyrosine phosphatase, non-receptor type 8|protein tyrosine phosphatase, non-receptor type 22 (lymphoid)" Protein tyrosine phosphatases non-receptor type 812 1999-11-26 2019-02-14 2019-02-14 26191 ENSG00000134242 OTTHUMG00000011936 uc001eds.4 AF001846 NM_015967 "CCDS863|CCDS864|CCDS76191" Q9Y2R2 "10068674|1373816" MGI:107170 RGD:1307992 600716 317445 objectId:3084 HGNC:9652 HGNC:9652 +HGNC:14406 PTPN23 protein tyrosine phosphatase non-receptor type 23 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "DKFZP564F0923|KIAA1471|HD-PTP" Protein tyrosine phosphatases non-receptor type 812 2001-02-15 2019-02-14 2019-02-14 25930 ENSG00000076201 OTTHUMG00000133520 uc003crf.2 AB025194 NM_015466 CCDS2754 Q9H3S7 11095967 MGI:2144837 RGD:619892 606584 HGNC:14406 "ENST00000265562.5|NM_015466.4" +HGNC:55397 PTPN23-DT PTPN23 divergent transcript non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 Divergent transcripts 1990 2020-12-21 2020-12-21 119863865 ENSG00000260236 +HGNC:9664 PTPRA protein tyrosine phosphatase receptor type A protein-coding gene gene with protein product Approved 20p13 20p13 "LRP|HLPR|HPTPA|RPTPA" "PTPRL2|PTPA" Protein tyrosine phosphatases receptor type 813 1990-10-02 2019-02-14 2019-02-14 5786 ENSG00000132670 OTTHUMG00000031718 uc002whk.4 NM_001385302 "CCDS13038|CCDS13039" P18433 "2172030|2169617" MGI:97808 RGD:3450 176884 objectId:1850 HGNC:9664 "ENST00000399903.7|NM_001385305.1" +HGNC:9665 PTPRB protein tyrosine phosphatase receptor type B protein-coding gene gene with protein product Approved 12q15 12q15 PTPB "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1991-05-15 2019-02-14 2019-02-14 5787 ENSG00000127329 OTTHUMG00000169499 uc001swc.6 X54131 NM_001109754 "CCDS55846|CCDS81713|CCDS55845|CCDS44944|CCDS44943" P23467 2169617 MGI:97809 RGD:1305922 PTPRB 176882 objectId:1851 HGNC:9665 "ENST00000334414.11|NM_001109754.4" +HGNC:9666 PTPRC protein tyrosine phosphatase receptor type C protein-coding gene gene with protein product Approved 1q31.3-q32.1 01q31.3-q32.1 "LCA|T200|GP180" CD45 "CD molecules|Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "471|555|813" 1986-01-01 2019-02-14 2021-04-13 5788 ENSG00000081237 OTTHUMG00000035702 uc001gur.3 Y00062 NM_002838 "CCDS1397|CCDS44291|CCDS1398" P08575 2169617 MGI:97810 RGD:3451 "PTPRCbase: Mutation registry for CD45 deficiency|http://structure.bmc.lu.se/idbase/PTPRCbase/|LRG_95|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_95.xml" PTPRC 151460 118151 objectId:1852 CD45 HGNC:9666 "ENST00000442510.8|NM_002838.5" HGNC:9666 +HGNC:9667 PTPRCAP protein tyrosine phosphatase receptor type C associated protein protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "LPAP|CD45-AP" 1996-04-22 2019-02-14 2019-02-14 5790 ENSG00000213402 OTTHUMG00000150325 uc001oli.2 NM_005608 CCDS8163 Q14761 MGI:97811 RGD:1559601 601577 HGNC:9667 "ENST00000326294.4|NM_005608.3" +HGNC:9668 PTPRD protein tyrosine phosphatase receptor type D protein-coding gene gene with protein product Approved 9p24.1-p23 09p24.1-p23 "PTPD|HPTP" "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type" "555|593|813" 1992-02-12 2019-02-14 2019-02-14 5789 ENSG00000153707 OTTHUMG00000021005 uc064scf.1 X54133 NM_001040712 "CCDS43786|CCDS6472|CCDS55288|CCDS55290|CCDS55289|CCDS75813" P23468 "7896816|8355697" MGI:97812 RGD:1561090 601598 objectId:1853 HGNC:9668 "ENST00000381196.9|NM_002839.4" +HGNC:49753 PTPRD-AS1 PTPRD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.1 09p24.1 Antisense RNAs 1987 2014-02-13 2014-02-13 101929407 ENSG00000225706 OTTHUMG00000019543 AK094342 NR_121599 PTPRD-AS1 HGNC:49753 +HGNC:49754 PTPRD-DT PTPRD divergent transcript non-coding RNA RNA, long non-coding Approved 9p23 09p23 PTPRD-AS2 PTPRD antisense RNA 2 (head to head) Divergent transcripts 1990 2014-02-13 2021-08-02 2021-08-02 2021-08-02 101929428 ENSG00000226717 OTTHUMG00000019549 NR_110696 PTPRD-AS2 HGNC:49754 +HGNC:9669 PTPRE protein tyrosine phosphatase receptor type E protein-coding gene gene with protein product Approved 10q26.2 10q26.2 PTPE Protein tyrosine phosphatases receptor type 813 1992-02-12 2019-02-14 2019-02-14 5791 ENSG00000132334 OTTHUMG00000019254 uc001lkb.4 AF406557 NM_001316676 "CCDS7658|CCDS7657" P23469 8595895 MGI:97813 RGD:620771 600926 objectId:1854 HGNC:9669 "ENST00000254667.8|NM_006504.6" +HGNC:9670 PTPRF protein tyrosine phosphatase receptor type F protein-coding gene gene with protein product Approved 1p34.2 01p34.2 LAR "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type" "555|593|813" 1989-06-30 2019-02-14 2019-02-14 5792 ENSG00000142949 OTTHUMG00000007501 uc001cjs.4 Y00815 NM_001329137 "CCDS489|CCDS490" P10586 7558042 MGI:102695 RGD:3453 179590 410737 objectId:1855 HGNC:9670 "ENST00000359947.9|NM_002840.5" HGNC:9670 +HGNC:9671 PTPRG protein tyrosine phosphatase receptor type G protein-coding gene gene with protein product Approved 3p14.2 03p14.2 RPTPG PTPG "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1991-05-15 2019-02-14 2019-02-14 5793 ENSG00000144724 OTTHUMG00000158660 uc003dlb.4 L09247 NM_002841 CCDS2895 P23470 1711217 MGI:97814 RGD:620774 176886 objectId:1856 HGNC:9671 "ENST00000474889.6|NM_002841.4" +HGNC:44638 PTPRG-AS1 PTPRG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.2 03p14.2 Antisense RNAs 1987 2012-11-23 2012-11-23 100506994 ENSG00000241472 OTTHUMG00000158657 uc062lcp.1 "AK308660|BC041886" NR_038281 PTPRG-AS1 HGNC:44638 +HGNC:9672 PTPRH protein tyrosine phosphatase receptor type H protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SAP-1 "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1994-09-14 2019-02-14 2019-08-20 5794 ENSG00000080031 OTTHUMG00000180701 uc002qjq.4 NM_001161440 "CCDS33110|CCDS54321" Q9HD43 8294459 MGI:3026877 RGD:620553 602510 objectId:1857 HGNC:9672 "ENST00000376350.8|NM_002842.5" +HGNC:9673 PTPRJ protein tyrosine phosphatase receptor type J protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "DEP1|HPTPeta|CD148" "CD molecules|Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes" "471|555|813|1691" 1994-09-14 2019-02-14 2019-02-14 5795 ENSG00000149177 OTTHUMG00000166573 uc001ngp.5 U10886 NM_001098503 "CCDS44596|CCDS7945" Q12913 "7937872|7994032" MGI:104574 RGD:3454 600925 objectId:1858 CD148 HGNC:9673 "ENST00000418331.7|NM_002843.4" HGNC:9673 +HGNC:50634 PTPRJ-AS1 PTPRJ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Antisense RNAs 1987 2014-06-01 2014-06-02 104326192 ENSG00000254879 OTTHUMG00000166634 AI365468 23840844 MGI:1918408 PTPRJ-AS1 +HGNC:9674 PTPRK protein tyrosine phosphatase receptor type K protein-coding gene gene with protein product Approved 6q22.33 06q22.33 R-PTP-kappa "Fibronectin type III domain containing|Immunoglobulin like domain containing|Protein tyrosine phosphatases receptor type" "555|594|813" 1998-02-09 2019-02-14 2019-02-14 5796 ENSG00000152894 OTTHUMG00000015536 uc003qbj.4 L77886 NM_001135648 "CCDS47473|CCDS5137|CCDS78179|CCDS75517" Q15262 "9047348|8663237" MGI:103310 RGD:619706 PTPRK 602545 objectId:1859 HGNC:9674 "ENST00000368226.9|NM_002844.4" +HGNC:40484 PTPRK-AS1 PTPRK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22.33 06q22.33 Antisense RNAs 1987 2020-03-19 2020-03-19 101928140 ENSG00000227945 OTTHUMG00000015535 NR_125849 +HGNC:9675 PTPRM protein tyrosine phosphatase receptor type M protein-coding gene gene with protein product Approved 18p11.23 18p11.23 "RPTPU|hR-PTPu" PTPRL1 "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type|Ig-like cell adhesion molecule family" "555|593|813|1410" 1991-08-23 2019-02-14 2019-02-14 5797 ENSG00000173482 OTTHUMG00000131575 uc002knn.5 X58288 NM_001105244 "CCDS58613|CCDS11840" P28827 "1655529|8404049" MGI:102694 RGD:620776 176888 objectId:1860 HGNC:9675 "ENST00000580170.6|NM_001105244.2" +HGNC:9676 PTPRN protein tyrosine phosphatase receptor type N protein-coding gene gene with protein product Approved 2q35 02q35 "IA-2|ICA512" "insulinoma-associated tyrosine-phosphatase-like protein|islet cell antigen 512" "Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes" "813|1691" 1995-02-17 2019-02-14 2019-02-14 5798 ENSG00000054356 OTTHUMG00000133129 uc002vkz.3 NM_001199763 "CCDS56168|CCDS56167|CCDS2440" Q16849 8024693 MGI:102765 RGD:620777 601773 objectId:1861 HGNC:9676 "ENST00000295718.7|NM_002846.4" +HGNC:9677 PTPRN2 protein tyrosine phosphatase receptor type N2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "KIAA0387|phogrin|ICAAR|IA-2beta" IAR PTPRP protein tyrosine phosphatase, receptor type, N polypeptide 2 "Protein tyrosine phosphatases receptor type|MicroRNA protein coding host genes" "813|1691" 1998-03-23 2019-02-14 2019-02-14 5799 ENSG00000155093 OTTHUMG00000152646 uc003wnp.4 AB002385 NM_001308267 "CCDS5947|CCDS5948|CCDS5949|CCDS78294" Q92932 "8954911|9220540" MGI:107418 RGD:61904 601698 objectId:1862 HGNC:9677 "ENST00000389418.9|NM_002847.5" +HGNC:40488 PTPRN2-AS1 PTPRN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Antisense RNAs 1987 2020-03-19 2020-03-19 100506585 ENSG00000233038 OTTHUMG00000152644 NR_038966 +HGNC:9678 PTPRO protein tyrosine phosphatase receptor type O protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "PTPU2|GLEPP1|PTP-U2|PTP-oc|NPHS6" osteoclastic transmembrane protein-tyrosine phosphatase "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1995-02-22 2019-02-14 2021-05-26 5800 ENSG00000151490 OTTHUMG00000168786 uc001rcv.3 U20489 NM_002848 "CCDS53754|CCDS8675|CCDS44837|CCDS8674" Q16827 "7519601|7665166|21722858" MGI:1097152 RGD:62068 600579 270424 objectId:1863 HGNC:9678 "ENST00000281171.9|NM_030667.3" HGNC:9678 +HGNC:9679 PTPRQ protein tyrosine phosphatase receptor type Q protein-coding gene gene with protein product Approved 12q21.31 12q21.31 phosphatidylinositol phosphatase PTPRQ DFNB84 deafness, autosomal recessive 84 "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1998-03-24 2019-02-14 2019-02-14 374462 ENSG00000139304 OTTHUMG00000170171 uc031zgj.2 AF169351 NM_001145026 CCDS73501 Q9UMZ3 20346435 MGI:1096349 RGD:620779 603317 227397 objectId:1864 3.1.3.48 HGNC:9679 "ENST00000644991.3|NM_001145026.2" HGNC:9679 +HGNC:9680 PTPRR protein tyrosine phosphatase receptor type R protein-coding gene gene with protein product Approved 12q15 12q15 "PTPBR7|PTP-SL|EC-PTP|PCPTP1" PTPRQ Protein tyrosine phosphatases receptor type 813 1999-10-28 2019-02-14 2019-02-14 5801 ENSG00000153233 OTTHUMG00000169502 uc001swi.3 D64053 NM_002849 "CCDS55847|CCDS8998|CCDS55848|CCDS44945" Q15256 "7557444|10393441" MGI:109559 RGD:620780 602853 objectId:1865 HGNC:9680 "ENST00000283228.7|NM_002849.4" +HGNC:9681 PTPRS protein tyrosine phosphatase receptor type S protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "Fibronectin type III domain containing|I-set domain containing|Protein tyrosine phosphatases receptor type" "555|593|813" 1995-04-27 2019-02-14 2019-02-14 5802 ENSG00000105426 OTTHUMG00000180325 uc002mbw.3 U35234 NM_001394011 "CCDS12140|CCDS45930|CCDS12139" Q13332 "8954782|8524829" MGI:97815 RGD:3452 601576 objectId:1866 HGNC:9681 "ENST00000262963.11|NM_002850.4" +HGNC:56210 PTPRS-AS1 PTPRS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 CTC-482H14.5 Antisense RNAs 1987 2022-02-22 2022-02-22 ENSG00000267550 35181589 +HGNC:9682 PTPRT protein tyrosine phosphatase receptor type T protein-coding gene gene with protein product Approved 20q12-q13.11 20q12-q13.11 "RPTPrho|KIAA0283" "Fibronectin type III domain containing|Immunoglobulin like domain containing|Protein tyrosine phosphatases receptor type" "555|594|813" 1999-08-26 2019-02-14 2019-02-14 11122 ENSG00000196090 OTTHUMG00000033040 uc061xcb.1 AF043644 NM_001394024 "CCDS68127|CCDS42874" O14522 "9486824|9602027" MGI:1321152 RGD:1309653 PTPRT 608712 objectId:1867 HGNC:9682 "ENST00000373187.6|NM_007050.6" +HGNC:40491 PTPRT-AS1 PTPRT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q12 20q12 Antisense RNAs 1987 2020-03-19 2020-03-19 101927138 ENSG00000227599 OTTHUMG00000032495 NR_149017 +HGNC:55715 PTPRT-DT PTPRT divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.11 20q13.11 Divergent transcripts 1990 2021-07-12 2021-07-12 121853075 ENSG00000233508 XR_007067592 +HGNC:9683 PTPRU protein tyrosine phosphatase receptor type U protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "PTPRO|hPTP-J|PCP-2|FMI|PTP" pi R-PTP-Psi "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1999-10-28 2019-02-14 2019-02-14 10076 ENSG00000060656 OTTHUMG00000003699 uc001bru.4 U71075 NM_001195001 "CCDS334|CCDS53290|CCDS44098|CCDS335" Q92729 "8700514|9434160" MGI:1321151 RGD:620782 602454 objectId:1868 HGNC:9683 "ENST00000373779.8|NM_133178.4" +HGNC:13421 PTPRVP protein tyrosine phosphatase receptor type V, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 "OST-PTP|ESP" PTPRV Protein tyrosine phosphatases receptor type 813 2005-06-07 2010-03-16 2019-02-14 2020-08-14 148713 ENSG00000243323 OTTHUMG00000040524 AJ629456 XM_086287 15358244 MGI:108027 HGNC:13421 +HGNC:9685 PTPRZ1 protein tyrosine phosphatase receptor type Z1 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "PTP18|RPTPB|phosphacan" "PTPZ|PTPRZ" protein tyrosine phosphatase, receptor-type, Z polypeptide 1 "Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type" "555|813" 1991-05-15 2019-02-14 2021-04-13 5803 ENSG00000106278 OTTHUMG00000157057 uc003vjy.4 M93426 NM_002851 "CCDS56505|CCDS34740" P23471 "7736789|8387522" MGI:97816 RGD:3455 LRG_1387|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1387.xml 176891 objectId:1869 HGNC:9685 "ENST00000393386.7|NM_002851.3" +HGNC:9686 PTPRZ2 protein tyrosine phosphatase receptor type Z2 other unknown Approved 1p36.3 01p36.3 "HTPZP2|PTPRZ" protein tyrosine phosphatase, receptor-type, Z polypeptide 2 1997-08-15 2019-02-14 2019-02-14 5804 "9653645|1323835" 604008 +HGNC:27039 PTRH1 peptidyl-tRNA hydrolase 1 homolog protein-coding gene gene with protein product Approved 9q34.11 09q34.11 PTH1 C9orf115 "chromosome 9 open reading frame 115|peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)" 2004-03-25 2006-02-13 2015-07-09 2015-07-09 138428 ENSG00000187024 OTTHUMG00000020710 uc011mah.4 AK090922 NM_001002913 "CCDS35147|CCDS87693" Q86Y79 MGI:1913779 RGD:1310165 HGNC:27039 "ENST00000543175.5|NM_001002913.3" +HGNC:24265 PTRH2 peptidyl-tRNA hydrolase 2 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "BIT1|CGI-147|PTH2|CFAP37" "Bcl-2 inhibitor of transcription|cilia and flagella associated protein 37" Cilia and flagella associated 1491 2006-02-22 2016-10-05 51651 ENSG00000141378 OTTHUMG00000154532 uc002ixt.4 AF151905 NM_016077 "CCDS11618|CCDS77076" Q9Y3E5 "10810093|15006356|14660562" MGI:2444848 RGD:1306819 608625 457522 HGNC:24265 "ENST00000393038.3|NM_016077.5" HGNC:24265 +HGNC:33782 PTRHD1 peptidyl-tRNA hydrolase domain containing 1 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 LOC391356 C2orf79 chromosome 2 open reading frame 79 2008-07-18 2011-05-09 2011-05-09 2016-11-03 391356 ENSG00000184924 OTTHUMG00000151978 uc002rfm.4 NM_001013663 CCDS33156 Q6GMV3 27753167 MGI:1916959 RGD:1561792 617342 HGNC:33782 "ENST00000328379.6|NM_001013663.2" +HGNC:9689 PTS 6-pyruvoyltetrahydropterin synthase protein-coding gene gene with protein product Approved 11q23.1 11q23.1 PTPS 1988-05-11 2020-04-01 5805 ENSG00000150787 OTTHUMG00000167167 uc001pnj.5 U63382 NM_000317 CCDS8359 Q03393 8188266 MGI:1338783 RGD:68367 BIOMDBdb: Database of Mutations Causing BH4 Deficiencies and other PND|http://www.biopku.org/home/biomdb.asp 612719 118157 4.2.3.12 HGNC:9689 "ENST00000280362.8|NM_000317.3" HGNC:9689 +HGNC:9690 PTTG1 PTTG1 regulator of sister chromatid separation, securin protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "PTTG|HPTTG|EAP1|securin" "ESP1-associated protein 1|tumor-transforming protein 1" TUTR1 pituitary tumor-transforming 1 1999-02-23 2019-03-07 2019-03-07 9232 ENSG00000164611 OTTHUMG00000130328 uc003lyj.5 AF062649 NM_004219 CCDS4353 O95997 "9811450|9892021|28384135" MGI:1353578 RGD:68359 604147 HGNC:9690 "ENST00000352433.10|NM_004219.4" +HGNC:13524 PTTG1IP PTTG1 interacting protein protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "PBF|PTTG1IP1" "C21orf3|C21orf1" pituitary tumor-transforming 1 interacting protein 2000-09-20 2017-02-28 2022-01-06 754 ENSG00000183255 OTTHUMG00000090254 uc002zgb.3 AF149785 NM_001286822 "CCDS13715|CCDS68221" P53801 "9570958|10781616" MGI:2652132 RGD:1305983 603784 HGNC:13524 "ENST00000330938.8|NM_004339.4" +HGNC:55318 PTTG1IP2 PTTG1IP family member 2 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 2020-10-19 2020-10-19 102723899 ENSG00000251154 NM_001365443 P0DTF9 MGI:2686532 "ENST00000509356.2|NM_001365443.2" +HGNC:9691 PTTG2 pituitary tumor-transforming 2 protein-coding gene gene with protein product Approved 4p14 04p14 1999-02-23 2016-10-25 10744 ENSG00000250254 OTTHUMG00000160424 uc011bye.3 AF095288 NM_006607 CCDS54755 Q9NZH5 "10084610|10806349" MGI:1353578 604231 HGNC:9691 "ENST00000504686.2|NM_006607.3" +HGNC:13422 PTTG3P pituitary tumor-transforming 3, pseudogene pseudogene pseudogene Approved 8q13.1 08q13.1 PTTG3 pituitary tumor-transforming 3 2004-01-22 2009-08-21 2011-04-15 2018-06-08 26255 ENSG00000213005 OTTHUMG00000164788 AF095289 NR_002734 Q9NZH4 "10806349|29803224" MGI:1353578 PGOHUM00000257190 HGNC:13422 +HGNC:20055 PTTG4P pituitary tumor-transforming 4 pseudogene pseudogene pseudogene Approved 14q24.2 14q24.2 2003-01-13 2014-11-19 326315 ENSG00000258571 OTTHUMG00000171288 NG_051070 HGNC:20055 +HGNC:9692 PTX3 pentraxin 3 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 TSG-14 long pentraxin 3 TNFAIP5 "pentaxin-related gene, rapidly induced by IL-1 beta|tumor necrosis factor, alpha-induced protein 5|pentraxin-related gene, rapidly induced by IL-1 beta|pentraxin 3, long" Long pentraxins 1142 1993-11-08 2015-11-17 2016-10-05 5806 ENSG00000163661 OTTHUMG00000158750 uc003fbl.5 X63613 NM_002852 CCDS3180 P26022 1429570 MGI:104641 RGD:1593476 602492 HGNC:9692 "ENST00000295927.4|NM_002852.4" +HGNC:14171 PTX4 pentraxin 4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 long pentraxin 4 C16orf38 "chromosome 16 open reading frame 38|pentraxin 4, long" Long pentraxins 1142 2000-12-21 2010-03-30 2015-11-17 2015-11-17 390667 ENSG00000251692 OTTHUMG00000044470 uc010uvf.2 NM_001013658 "CCDS86492|CCDS32362" Q96A99 MGI:1915759 RGD:1311190 613442 HGNC:14171 "ENST00000447419.7|NM_001328608.2" +HGNC:16818 PUDP pseudouridine 5'-phosphatase protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 "DXF68S1E|GS1" "FAM16AX|HDHD1A|HDHD1" "family with sequence similarity 16, member A, X-linked|haloacid dehalogenase-like hydrolase domain containing 1A|haloacid dehalogenase-like hydrolase domain containing 1" "HAD Asp-based non-protein phosphatases|Haloacid dehalogenase like hydrolase domain containing" "1045|1377" 2003-02-11 2015-08-12 2015-08-12 2020-04-02 8226 ENSG00000130021 OTTHUMG00000021101 M86934 NM_012080 "CCDS55366|CCDS48076|CCDS48075|CCDS55367" Q08623 "1734713|1284467|20722631" MGI:1914615 RGD:1305101 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/HDHD1 306480 3.1.3.96 HGNC:16818 "ENST00000381077.10|NM_012080.5" +HGNC:20200 PUDPP1 pseudouridine 5'-phosphatase pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 "FAM16AY|HDHD1BP|HDHD1P1" "family with sequence similarity 16, member A, Y-linked|HDHD family member 1B, pseudogene|haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 1" Haloacid dehalogenase like hydrolase domain containing 1377 2003-02-13 2015-08-13 2015-08-13 2015-08-13 327658 ENSG00000234620 OTTHUMG00000036408 NG_002612 "1734713|1284467" PGOHUM00000233753 HGNC:20200 +HGNC:20195 PUDPP2 pseudouridine 5'-phosphatase pseudogene 2 pseudogene pseudogene Approved 1q21.3 01q21.3 "FAM16B|HDHD1CP|HDHD1P2" "family with sequence similarity 16, member B|HDHD family member 1C, pseudogene|haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 2" 2003-02-13 2015-08-13 2015-08-13 2015-08-13 327659 ENSG00000233792 OTTHUMG00000013067 NG_002613 1284467 PGOHUM00000244271 HGNC:20195 +HGNC:38118 PUDPP3 pseudouridine 5'-phosphatase pseudogene 3 pseudogene pseudogene Approved 20q11.21 20q11.21 "HDHD1DP|HDHD1P3" "HDHD family member 1D, pseudogene|haloacid dehalogenase-like hydrolase domain containing 1 pseudogene 3" 2010-04-20 2015-08-13 2015-08-13 2015-08-13 391242 ENSG00000214245 OTTHUMG00000032236 NG_021980 PGOHUM00000247512 HGNC:38118 +HGNC:17042 PUF60 poly(U) binding splicing factor 60 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FIR|SIAHBP1|RoBPI" "siah binding protein 1|FBP interacting repressor|pyrimidine tract binding splicing factor|Ro ribonucleoprotein binding protein 1" poly(U) binding splicing factor 60KDa "RNA binding motif containing|Spliceosomal A complex" "725|1504" 2007-07-27 2016-06-22 2016-06-22 22827 ENSG00000179950 OTTHUMG00000165155 uc003yzs.5 AF114818 NM_014281 "CCDS59516|CCDS59514|CCDS59515|CCDS47935|CCDS47934|CCDS47933" Q9UHX1 "10668799|10882074|17579712" MGI:1915209 RGD:621674 604819 470934 HGNC:17042 "ENST00000526683.6|NM_078480.3" HGNC:17042 +HGNC:14957 PUM1 pumilio RNA binding family member 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "PUMH1|KIAA0099" pumilio homolog 1 (Drosophila) "Pumilio homology domain containing|Small nucleolar RNA protein coding host genes" "1494|1835" 2001-03-27 2015-11-05 2021-05-26 9698 ENSG00000134644 OTTHUMG00000003795 uc001bsi.2 AF315592 NM_001020658 "CCDS44099|CCDS338" Q14671 MGI:1931749 RGD:1307190 607204 HGNC:14957 "ENST00000426105.7|NM_001020658.2" HGNC:14957 +HGNC:14958 PUM2 pumilio RNA binding family member 2 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "PUMH2|KIAA0235" pumilio homolog 2 (Drosophila) Pumilio homology domain containing 1494 2001-03-27 2015-11-05 2015-11-05 23369 ENSG00000055917 OTTHUMG00000122098 uc002rdu.3 AF315591 NM_015317 "CCDS74487|CCDS74486|CCDS1698" Q8TB72 "9039502|12459267|12511597" MGI:1931751 RGD:1311024 607205 HGNC:14958 "ENST00000361078.7|NM_015317.5" +HGNC:29676 PUM3 pumilio RNA binding family member 3 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 "XTP5|PEN|PUF6|hPUF-A|HA-8|Puf-A" "penguin homolog (Drosophila)|minor histocompatibility antigen HA-8" KIAA0020 KIAA0020 "Minor histocompatibility antigens|Pumilio homology domain containing" "870|1494" 2004-01-06 2015-10-02 2015-11-05 2019-07-04 9933 ENSG00000080608 OTTHUMG00000019450 AL832239 NM_014878 CCDS6448 Q15397 "7584026|7584028|21266351" MGI:106253 RGD:1564753 609960 HGNC:29676 "ENST00000397885.3|NM_014878.5" +HGNC:9701 PURA purine rich element binding protein A protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "PURALPHA|PUR1|PUR-ALPHA" 1993-10-19 2016-06-06 2017-09-22 5813 ENSG00000185129 OTTHUMG00000129242 uc003lfa.4 BC036087 NM_005859 CCDS4220 Q00577 "1448097|25342064|28448108" MGI:103079 RGD:1308543 600473 418205 HGNC:9701 "ENST00000331327.5|NM_005859.5" HGNC:9701 +HGNC:9702 PURB purine rich element binding protein B protein-coding gene gene with protein product Approved 7p13 07p13 PURBETA MicroRNA protein coding host genes 1691 1993-10-19 2016-06-06 2016-06-06 5814 ENSG00000146676 OTTHUMG00000023578 uc003tme.5 NM_033224 CCDS5499 Q96QR8 1448097 MGI:1338779 RGD:1559465 608887 HGNC:9702 "ENST00000395699.5|NM_033224.5" +HGNC:17930 PURG purine rich element binding protein G protein-coding gene gene with protein product Approved 8p12 08p12 "PURG-A|PURG-B" 2004-02-09 2016-06-06 2016-10-05 29942 ENSG00000172733 OTTHUMG00000157357 uc003xin.4 AF195513 NM_013357 "CCDS34878|CCDS6081" Q9UJV8 12034829 MGI:1922279 RGD:1305088 618041 HGNC:17930 "ENST00000523392.2|NM_001323311.2" +HGNC:48995 PURPL p53 upregulated regulator of p53 levels non-coding RNA RNA, long non-coding Approved 5p14.1 05p14.1 "LOC643401|RP11-46C20.1" LINC01021 long intergenic non-protein coding RNA 1021 Long non-coding RNAs with non-systematic symbols 1992 2013-07-26 2017-09-08 2017-09-08 2018-09-07 643401 ENSG00000250337 OTTHUMG00000161968 NR_038848 "28877474|29262524" LINC01021 HGNC:48995 +HGNC:15508 PUS1 pseudouridine synthase 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 MLASA1 "tRNA pseudouridine(38-40) synthase|mitochondrial myopathy and sideroblastic anemia 1" pseudouridylate synthase 1 Pseudouridine synthases 1665 2001-04-06 2018-09-12 2021-12-07 80324 ENSG00000177192 OTTHUMG00000128507 uc001ujf.4 AF116238 NM_025215 "CCDS9275|CCDS31928" Q9Y606 "10094309|15108122|24722331" MGI:1929237 RGD:1311871 608109 118160 5.4.99.12 HGNC:15508 "ENST00000376649.8|NM_025215.6" HGNC:15508 +HGNC:25461 PUS3 pseudouridine synthase 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FKSG32|DEG1" "tRNA pseudouridine(38/39) synthase|tRNA-uridine isomerase 3" pseudouridylate synthase 3 Pseudouridine synthases 1665 2004-08-23 2018-09-12 2021-12-07 83480 ENSG00000110060 OTTHUMG00000165870 uc001qcy.3 BC004822 NM_031307 "CCDS73411|CCDS8466" Q9BZE2 27055666 MGI:1914299 RGD:1310757 616283 5.4.99.45 HGNC:25461 "ENST00000227474.8|NM_031307.4" HGNC:25461 +HGNC:26033 PUS7 pseudouridine synthase 7 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 FLJ20485 "pseudouridylate synthase 7 homolog (S. cerevisiae)|pseudouridylate synthase 7 (putative)|pseudouridylate synthase 7" Pseudouridine synthases 1665 2006-02-07 2018-09-12 2021-12-09 54517 ENSG00000091127 OTTHUMG00000157399 uc003vcy.5 AK128629 NM_019042 CCDS34725 Q96PZ0 "11572484|29628141|30778726" MGI:1925947 RGD:1307054 616261 HGNC:26033 "ENST00000469408.6|NM_019042.5" HGNC:26033 +HGNC:25276 PUS7L pseudouridine synthase 7 like protein-coding gene gene with protein product Approved 12q12 12q12 DKFZP434G1415 "pseudouridylate synthase 7 homolog (S. cerevisiae)-like|pseudouridylate synthase 7-like|pseudouridylate synthase 7 like" Pseudouridine synthases 1665 2006-02-07 2018-09-12 2021-10-07 83448 ENSG00000129317 OTTHUMG00000169423 uc001rns.7 BX647494 NM_031292 "CCDS61104|CCDS8743" Q9H0K6 11230166 MGI:1926145 RGD:1304692 HGNC:25276 "ENST00000344862.10|NM_031292.5" +HGNC:49779 PUS7P1 pseudouridylate synthase 7 pseudogene 1 pseudogene pseudogene Approved 9p22.2 09p22.2 2014-02-14 2014-02-14 100421790 NG_023877 PGOHUM00000236397 HGNC:49779 +HGNC:26505 PUS10 pseudouridine synthase 10 protein-coding gene gene with protein product Approved 2p16.1-p15 02p16.1-p15 FLJ32312 CCDC139 "coiled-coil domain containing 139|pseudouridylate synthase 10" Pseudouridine synthases 1665 2007-07-10 2008-01-09 2018-09-12 2018-09-12 150962 ENSG00000162927 OTTHUMG00000129423 uc002sao.4 AK056874 NM_144709 CCDS1865 Q3MIT2 17900615 MGI:1921717 RGD:1306402 612787 HGNC:26505 "ENST00000316752.11|NM_144709.4" +HGNC:26914 PUSL1 pseudouridine synthase like 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ90811 pseudouridylate synthase like 1 Pseudouridine synthases 1665 2004-08-23 2018-09-12 2018-09-12 126789 ENSG00000169972 OTTHUMG00000003361 uc001aed.4 AK027721 NM_153339 CCDS20 Q8N0Z8 28082677 MGI:3047787 RGD:1559560 HGNC:26914 "ENST00000379031.10|NM_153339.3" +HGNC:9704 PVALB parvalbumin protein-coding gene gene with protein product Approved 22q12.3 22q12.3 D22S749 parvalbumin alpha EF-hand domain containing 863 1986-01-01 2017-05-31 5816 ENSG00000100362 OTTHUMG00000150547 uc003apx.4 NM_002854 CCDS13933 P20472 "1559707|10591208" MGI:97821 RGD:3457 168890 HGNC:9704 "ENST00000417718.7|NM_001315532.2" +HGNC:40053 PVALEF parvalbumin like EF-hand containing protein-coding gene gene with protein product Approved 17q25.3 17q25.3 AATK-AS1 "AATK antisense RNA 1 (non-protein coding)|AATK antisense RNA 1" 2011-05-04 2017-06-30 2017-06-30 2017-06-30 388428 ENSG00000225180 OTTHUMG00000150182 uc010wul.1 NM_001354639 CCDS86647 A0A1B0GWK0 AATK-AS1 HGNC:40053 "ENST00000637878.2|NM_001354639.2" +HGNC:9705 PVR PVR cell adhesion molecule protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "CD155|HVED|Necl-5|NECL5|Tage4" nectin-like 5 PVS poliovirus receptor "CD molecules|V-set domain containing|C2-set domain containing|Nectins and nectin-like molecules" "471|590|592|1855" 2001-06-22 2019-03-14 2019-03-14 5817 ENSG00000073008 OTTHUMG00000151527 uc032hzv.2 BC015542 NM_006505 "CCDS46106|CCDS12640|CCDS46105|CCDS46107" P15151 "2170108|28870470" MGI:107741 RGD:3813 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 173850 objectId:3095 CD155 HGNC:9705 "ENST00000425690.8|NM_006505.5" +HGNC:32190 PVRIG PVR related immunoglobulin domain containing protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "MGC2463|C7orf15|CD112R" "CD112 receptor|nectin-2 receptor" poliovirus receptor related immunoglobulin domain containing 2006-09-20 2017-09-14 2017-09-14 79037 ENSG00000213413 OTTHUMG00000156798 uc003uuf.2 BC001129 NM_024070 CCDS5690 Q6DKI7 16926269 MGI:5596028 RGD:1585866 617012 objectId:3080 HGNC:32190 +HGNC:48897 PVRIG2P PVR related immunoglobulin domain containing 2, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 poliovirus receptor related immunoglobulin domain containing 2, pseudogene 2013-06-26 2022-02-03 2022-02-03 101752334 ENSG00000235333 OTTHUMG00000156886 NR_103728 HGNC:48897 +HGNC:9709 PVT1 Pvt1 oncogene non-coding RNA RNA, long non-coding Approved 8q24.21 08q24.21 "NCRNA00079|LINC00079|onco-lncRNA-100|MIR1204HG" "non-protein coding RNA 79|long intergenic non-protein coding RNA 79|MIR1204, MIR1205, MIR1206 and MIR1207 host gene|plasmacytoma variant translocation 1" "pvt-1 (murine) oncogene homolog, MYC activator|Pvt1 oncogene homolog (mouse)|Pvt1 oncogene (non-protein coding)" "MicroRNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1688|1992" 2001-06-22 2018-05-16 2020-01-09 5820 ENSG00000249859 OTTHUMG00000164871 uc003ysl.4 M31519 NR_003367 "17503467|23801869" MGI:97824 RGD:6496716 165140 pvt1 PVT1 HGNC:9709 +HGNC:30089 PWAR1 Prader Willi/Angelman region RNA 1 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 "PAR1|PAR-1" Prader Willi/Angelman region 1 Long non-coding RNAs with non-systematic symbols 1992 2013-06-14 2018-09-07 145624 ENSG00000279050 OTTHUMG00000176879 NR_022009 "7987392|9477342" 600161 HGNC:30089 +HGNC:29998 PWAR4 Prader Willi/Angelman region RNA 4 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 "PAR4|PAR-4" Long non-coding RNAs with non-systematic symbols 1992 2013-06-14 2014-03-28 347745 NR_022010 "11106375|7987392" HGNC:29998 +HGNC:30090 PWAR5 Prader Willi/Angelman region RNA 5 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 "PAR5|PAR-5" Prader Willi/Angelman syndrome 5 Long non-coding RNAs with non-systematic symbols 1992 2013-06-14 2016-11-11 8123 ENSG00000279192 OTTHUMG00000184194 NR_022008 "7987392|9477342|23726844" 600162 HGNC:30090 +HGNC:49129 PWAR6 Prader Willi/Angelman region RNA 6 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 "HBT8|PAR-6" Long non-coding RNAs with non-systematic symbols 1992 2013-09-11 2013-09-11 2014-03-28 100506965 ENSG00000257151 OTTHUMG00000170276 "BC043194|AK096584" NR_146168 HGNC:49129 +HGNC:30001 PWARSN Prader Willi/Angelman region RNA, SNRPN neighbor non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 "PAR-SN|PARSN" paternally expressed transcript adjacent to snRPN Long non-coding RNAs with non-systematic symbols 1992 2013-06-14 2013-06-14 2015-05-27 347746 NR_022011 "12210318|8858349" HGNC:30001 +HGNC:17015 PWP1 PWP1 homolog, endonuclein protein-coding gene gene with protein product Approved 12q23.3 12q23.3 IEF-SSP-9502 endonuclein PWP1 homolog (S. cerevisiae) WD repeat domain containing 362 2005-05-13 2015-07-09 2015-07-22 11137 ENSG00000136045 OTTHUMG00000169913 uc001tmo.2 BC000067 NM_007062 "CCDS9114|CCDS81735" Q13610 "7828893|11850830" MGI:1914735 RGD:1310705 HGNC:17015 "ENST00000412830.8|NM_007062.3" +HGNC:9711 PWP2 PWP2 small subunit processome component protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "EHOC-17|UTP1" PWP2H "PWP2 periodic tryptophan protein homolog (yeast)|PWP2, small subunit processome component" "WD repeat domain containing|UTPb subcomplex" "362|1225" 1996-04-17 2006-11-24 2019-01-25 2019-01-25 5822 ENSG00000241945 OTTHUMG00000086893 uc002zeb.4 NM_005049 CCDS33579 Q15269 8893822 MGI:1341200 RGD:1582817 601475 HGNC:9711 "ENST00000291576.12|NM_005049.3" +HGNC:33235 PWRN1 Prader-Willi region non-protein coding RNA 1 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 NCRNA00198 non-protein coding RNA 198 Long non-coding RNAs with non-systematic symbols 1992 2007-01-04 2008-08-13 2015-05-22 791114 ENSG00000259905 OTTHUMG00000173077 uc059gtr.1 "AC139362|AC139147|AC100720" NR_026646 17337158 611215 PWRN1 HGNC:33235 +HGNC:33236 PWRN2 Prader-Willi region non-protein coding RNA 2 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 NCRNA00199 non-protein coding RNA 199 Long non-coding RNAs with non-systematic symbols 1992 2007-01-04 2008-08-13 2018-09-07 791115 ENSG00000260551 OTTHUMG00000173073 uc001ywl.3 AC087474 NR_026647 17337158 611217 PWRN2 HGNC:33236 +HGNC:49131 PWRN3 Prader-Willi region non-protein coding RNA 3 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 Long non-coding RNAs with non-systematic symbols 1992 2013-09-11 2013-09-11 101928840 ENSG00000260760 OTTHUMG00000176387 "AA412395|DB060889" NR_130780 PWRN3 HGNC:49131 +HGNC:49130 PWRN4 Prader-Willi region non-protein coding RNA 4 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 LINC01084 long intergenic non-protein coding RNA 1084 Long non-coding RNAs with non-systematic symbols 1992 2013-09-11 2013-09-11 2014-02-12 105370731 ENSG00000260232 OTTHUMG00000172887 "CK820921|BI712798" NR_126392 PWRN4 HGNC:49130 +HGNC:29406 PWWP2A PWWP domain containing 2A protein-coding gene gene with protein product Approved 5q33.3 05q33.3 KIAA1935 PWWP domain containing 1147 2007-10-22 2011-03-23 114825 ENSG00000170234 OTTHUMG00000163546 uc011ded.3 NM_001130864 "CCDS47331|CCDS58990|CCDS47332" Q96N64 MGI:1918052 RGD:1305891 617823 HGNC:29406 "ENST00000307063.9|NM_001130864.2" +HGNC:39709 PWWP2AP1 PWWP domain containing 2A pseudogene 1 pseudogene pseudogene Approved 13q31.1 13q31.1 2011-03-23 2011-03-23 100129459 ENSG00000226683 OTTHUMG00000017142 NG_011459 PGOHUM00000248646 HGNC:39709 +HGNC:25150 PWWP2B PWWP domain containing 2B protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "bA432J24.1|FLJ46823" PWWP2 PWWP domain containing 2 PWWP domain containing 1147 2004-03-16 2007-10-22 2007-10-22 2014-11-19 170394 ENSG00000171813 OTTHUMG00000019286 uc001lll.5 AK128663 NM_138499 "CCDS7667|CCDS44497" Q6NUJ5 MGI:2142008 RGD:1307108 HGNC:25150 "ENST00000305233.6|NM_138499.4" +HGNC:29641 PWWP3A PWWP domain containing 3A, DNA repair factor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MUM-1|EXPAND1" MUM1 melanoma associated antigen (mutated) 1 PWWP domain containing 1147 2004-02-12 2018-10-19 2018-10-19 2018-10-19 84939 ENSG00000160953 OTTHUMG00000180055 uc060qzb.1 AK075241 NM_032853 CCDS12062 Q2TAK8 "20347427|7644523" MGI:1915364 RGD:1308340 HGNC:29641 "ENST00000591337.7|NM_001369789.1" +HGNC:26583 PWWP3B PWWP domain containing 3B protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 FLJ33516 MUM1L1 "melanoma associated antigen (mutated) 1-like 1|MUM1 like 1" PWWP domain containing 1147 2004-09-15 2018-10-19 2018-10-19 2020-04-02 139221 ENSG00000157502 OTTHUMG00000022146 uc004emf.2 AK090835 NM_152423 CCDS55469 Q5H9M0 MGI:2445062 RGD:1565148 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MUM1L1 HGNC:26583 "ENST00000357175.6|NM_001171020.2" +HGNC:55197 PWWP4 PWWP domain containing 4 other unknown Approved Xq28 Xq28 PWWP domain containing 1147 2020-08-14 2020-08-14 728317 ENSG00000278803 NM_001395996 "MGI:3710618|MGI:99870|MGI:3645575|MGI:3645126" PGOHUM00000305397 +HGNC:21361 PXDC1 PX domain containing 1 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 C6orf145 chromosome 6 open reading frame 145 2003-06-10 2011-11-25 2011-11-25 2016-10-05 221749 ENSG00000168994 OTTHUMG00000014146 uc003mvt.3 AJ420534 NM_183373 CCDS4486 Q5TGL8 MGI:1914145 RGD:1311307 HGNC:21361 "ENST00000380283.5|NM_183373.4" +HGNC:14966 PXDN peroxidasin protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "KIAA0230|PRG2|MG50|D2S448|D2S448E|PXN" peroxidasin homolog (Drosophila) I-set domain containing 593 2005-07-19 2014-12-17 2014-12-17 7837 ENSG00000130508 OTTHUMG00000059697 uc002qxa.4 AF200348 NM_012293 CCDS46221 Q92626 "10441517|9039502|22842973" MGI:1916925 RGD:1560694 605158 285089 HGNC:14966 "ENST00000252804.9|NM_012293.3" HGNC:14966 +HGNC:26359 PXDNL peroxidasin like protein-coding gene gene with protein product Approved 8q11.22-q11.23 08q11.22-q11.23 "FLJ25471|PMR1" polysomal ribonuclease 1 homolog (Xenopus) "peroxidasin homolog-like (Drosophila)|peroxidasin homolog (Drosophila)-like" I-set domain containing 593 2005-07-19 2015-11-09 2018-02-13 137902 ENSG00000147485 OTTHUMG00000164244 uc003xqu.5 NM_144651 CCDS47855 A1KZ92 "22543864|24924147" 615904 HGNC:26359 "ENST00000356297.5|NM_144651.5" +HGNC:23326 PXK PX domain containing serine/threonine kinase like protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "FLJ20335|Slob" PX domain containing serine/threonine kinase 2003-11-07 2016-01-27 2017-02-22 54899 ENSG00000168297 OTTHUMG00000159149 uc003djz.3 AY274811 NM_017771 "CCDS74952|CCDS2889|CCDS74954|CCDS87097|CCDS74955|CCDS87098" Q7Z7A4 20086096 MGI:1289230 RGD:727819 611450 364829 objectId:2183 HGNC:23326 "ENST00000356151.7|NM_017771.5" +HGNC:9716 PXMP2 peroxisomal membrane protein 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "PMP22|MPV17L3" "peroxisomal membrane protein 2 (22kD)|peroxisomal membrane protein 2, 22kDa" 1992-03-03 2015-11-09 2019-11-29 5827 ENSG00000176894 OTTHUMG00000168019 uc001ukt.3 NM_018663 CCDS9279 Q9NR77 "11590176|19352492" MGI:107487 RGD:61812 617399 470936 HGNC:9716 "ENST00000317479.8|NM_018663.3" +HGNC:15920 PXMP4 peroxisomal membrane protein 4 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 PMP24 24 kDa peroxisomal intrinsic membrane protein "peroxisomal membrane protein 4 (24kD)|peroxisomal membrane protein 4, 24kDa" Tim17 family 1857 2001-06-21 2015-11-09 2015-11-09 11264 ENSG00000101417 OTTHUMG00000032273 uc002wzv.4 AF072864 NM_007238 "CCDS13226|CCDS13225" Q9Y6I8 10366717 MGI:1891701 RGD:628782 616397 470938 HGNC:15920 "ENST00000409299.8|NM_007238.5" +HGNC:9718 PXN paxillin protein-coding gene gene with protein product Approved 12q24.23 12q24.23 LIM domain containing 1218 1998-04-29 2016-10-05 5829 ENSG00000089159 OTTHUMG00000169169 uc001txv.3 U14588 NM_002859 "CCDS44998|CCDS58281|CCDS44996|CCDS44997" P49023 7534286 MGI:108295 RGD:1305759 602505 HGNC:9718 "ENST00000637617.2|NM_001385981.1" +HGNC:44123 PXN-AS1 PXN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.23 12q24.23 EyeLinc4 PXN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2019-07-12 100506649 ENSG00000255857 OTTHUMG00000169166 uc058uai.1 NR_038924 31173488 PXN-AS1 HGNC:44123 +HGNC:18312 PXT1 peroxisomal testis enriched protein 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 STEPP peroxisomal, testis specific 1 2004-04-30 2018-02-22 2018-02-22 222659 ENSG00000179165 OTTHUMG00000159815 uc003omd.3 AF486827 NM_152990 CCDS4820 Q8NFP0 MGI:1916557 RGD:2321717 HGNC:18312 "ENST00000454782.3|NM_152990.4" +HGNC:26303 PXYLP1 2-phosphoxylose phosphatase 1 protein-coding gene gene with protein product Approved 3q23 03q23 FLJ23751 ACPL2 acid phosphatase-like 2 Acid phosphatases 1071 2004-09-16 2014-03-17 2014-03-17 2014-03-17 92370 ENSG00000155893 OTTHUMG00000160171 NM_152282 "CCDS63797|CCDS3116" Q8TE99 24425863 MGI:2442444 RGD:1359617 619732 HGNC:26303 "ENST00000286353.9|NM_001037172.3" +HGNC:16608 PYCARD PYD and CARD domain containing protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "TMS-1|CARD5|ASC" "apoptosis-associated speck-like|apoptosis-associated speck-like protein containing a CARD" "Caspase recruitment domain containing|Pyrin domain containing" "959|994" 2004-06-25 2017-06-01 29108 ENSG00000103490 OTTHUMG00000176753 uc010cak.4 AB023416 NM_013258 "CCDS10709|CCDS10708" Q9ULZ3 "11250163|10567338|11103776" MGI:1931465 RGD:628637 606838 HGNC:16608 "ENST00000247470.10|NM_013258.5" +HGNC:45036 PYCARD-AS1 PYCARD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 "C16orf98|PYCARDOS" "chromosome 16 open reading frame 98|PYCARD opposite strand" Antisense RNAs 1987 2013-01-22 2014-10-03 2014-10-03 2014-10-03 100652740 ENSG00000261359 OTTHUMG00000132405 NR_102400 I3L0S3 PYCARD-AS1 HGNC:45036 +HGNC:9721 PYCR1 pyrroline-5-carboxylate reductase 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 P5C 1992-11-24 2015-09-07 5831 ENSG00000183010 OTTHUMG00000178436 uc002kct.3 NM_001282279 "CCDS11795|CCDS82221|CCDS62366|CCDS62365|CCDS11794" P32322 1730675 MGI:2384795 RGD:1307863 179035 201595 1.5.1.2 HGNC:9721 "ENST00000329875.13|NM_006907.4" HGNC:9721 +HGNC:30262 PYCR2 pyrroline-5-carboxylate reductase 2 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 P5CR2 pyrroline-5-carboxylate reductase family member 2 MicroRNA protein coding host genes 1691 2004-03-11 2017-03-22 2018-06-04 29920 ENSG00000143811 OTTHUMG00000037506 uc001hpq.5 AF151351 NM_013328 "CCDS31043|CCDS73039" Q96C36 25865492 MGI:1277956 RGD:1310074 616406 1.5.1.2 HGNC:30262 "ENST00000343818.11|NM_013328.4" HGNC:30262 +HGNC:25846 PYCR3 pyrroline-5-carboxylate reductase 3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ13852 PYCRL pyrroline-5-carboxylate reductase-like 2004-03-19 2017-03-22 2017-03-22 2017-03-22 65263 ENSG00000104524 OTTHUMG00000157010 uc003yyy.3 AF086378 NM_023078 CCDS6407 Q53H96 MGI:1913444 RGD:1309115 616408 1.5.1.2 HGNC:25846 "ENST00000495276.6|NM_023078.6" +HGNC:30261 PYDC1 pyrin domain containing 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "ASC2|POP1" Pyrin domain containing 994 2005-04-14 2016-03-22 2017-12-06 260434 ENSG00000169900 OTTHUMG00000132407 uc002ebo.4 NM_152901 CCDS10710 Q8WXC3 "11786556|16905547|12656673" 615700 HGNC:30261 "ENST00000302964.4|NM_152901.4" +HGNC:33512 PYDC2 pyrin domain containing 2 protein-coding gene gene with protein product Approved 3q28 03q28 POP2 Pyrin domain containing 994 2008-07-29 2015-07-22 152138 ENSG00000253548 OTTHUMG00000156167 uc011bso.2 NM_001083308 Q56P42 17178784 615701 HGNC:33512 "ENST00000518817.1|NM_001083308.1" +HGNC:52874 PYDC2-AS1 PYDC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 LINCR-0002 Antisense RNAs 1987 2022-01-06 2022-01-06 103344926 ENSG00000223812 OTTHUMG00000156168 NR_120606 24847104 +HGNC:53781 PYDC5 pyrin domain containing 5 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 POP3 pyrin domain only protein 3 2017-11-23 2020-04-01 107181291 NM_001320010 W6CW81 24531343 HGNC:53781 +HGNC:9723 PYGB glycogen phosphorylase B protein-coding gene gene with protein product Approved 20p11.21 20p11.21 glycogen phosphorylase, brain form phosphorylase, glycogen; brain Glycogen phosphorylases 437 1988-06-27 2016-10-13 2016-10-13 5834 ENSG00000100994 OTTHUMG00000032117 uc002wup.4 NM_002862 CCDS13171 P11216 MGI:97828 RGD:3460 138550 2.4.1.1 HGNC:9723 "ENST00000216962.9|NM_002862.4" +HGNC:9725 PYGL glycogen phosphorylase L protein-coding gene gene with protein product Approved 14q22.1 14q22.1 GSD6 "Hers disease|glycogen storage disease type VI|glycogen phosphorylase, liver form" phosphorylase, glycogen; liver Glycogen phosphorylases 437 2001-06-22 2016-10-13 2021-05-26 5836 ENSG00000100504 OTTHUMG00000166596 uc001wyu.4 NM_002863 "CCDS53894|CCDS32080" P06737 2877458 MGI:97829 RGD:620687 613741 118180 2.4.1.1 HGNC:9725 "ENST00000216392.8|NM_002863.5" HGNC:9725 +HGNC:9726 PYGM glycogen phosphorylase, muscle associated protein-coding gene gene with protein product Approved 11q13.1 11q13.1 GSD5 "McArdle syndrome|glycogen storage disease type V|glycogen phosphorylase, muscle form|myophosphorylase" phosphorylase, glycogen; muscle Glycogen phosphorylases 437 2001-06-22 2016-10-13 2021-05-26 5837 ENSG00000068976 OTTHUMG00000066835 uc001oax.5 NM_005609 "CCDS8079|CCDS53659" P11217 "2461546|25914343" MGI:97830 RGD:3461 608455 118182 2.4.1.1 HGNC:9726 "ENST00000164139.4|NM_005609.4" HGNC:9726 +HGNC:30256 PYGO1 pygopus family PHD finger 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 pygopus homolog 1 (Drosophila) "PHD finger proteins|Wnt enhanceosome complex" "88|1677" 2004-11-10 2013-10-09 2016-10-05 26108 ENSG00000171016 OTTHUMG00000132009 uc031qsf.3 AF457207 NM_015617 "CCDS81885|CCDS10155" Q9Y3Y4 11988739 MGI:1919385 RGD:1594620 606902 HGNC:30256 "ENST00000563719.4|NM_001367806.1" +HGNC:30257 PYGO2 pygopus family PHD finger 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 pygopus homolog 2 (Drosophila) "PHD finger proteins|Wnt enhanceosome complex" "88|1677" 2004-11-10 2013-10-09 2016-10-05 90780 ENSG00000163348 OTTHUMG00000037370 uc001fft.4 BC006132 NM_138300 CCDS1075 Q9BRQ0 11988739 MGI:1916161 RGD:1308535 606903 HGNC:30257 "ENST00000368457.3|NM_138300.4" +HGNC:28894 PYHIN1 pyrin and HIN domain family member 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "IFIX|MGC23885" pyrin and HIN domain family, member 1 "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 2005-01-24 2015-11-18 2017-03-24 149628 ENSG00000163564 OTTHUMG00000037109 uc001ftb.4 AY185344 NM_152501 "CCDS1178|CCDS1179|CCDS30907|CCDS30908" Q6K0P9 15122330 "MGI:101847|MGI:3780953" 612677 objectId:2925 HGNC:28894 "ENST00000368140.6|NM_152501.5" +HGNC:51820 PYHIN5P pyrin and HIN domain family member 5, pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 pyrin and HIN domain family, member 5, pseudogene "Pyrin domain containing|Pyrin and HIN domain family" "994|995" 2015-06-16 2015-11-18 2015-11-18 646377 ENSG00000229849 OTTHUMG00000022771 NG_029130 HGNC:51820 +HGNC:30258 PYM1 PYM homolog 1, exon junction complex associated factor protein-coding gene gene with protein product Approved 12q13.2 12q13.2 PYM partner of Y14 and Mago WIBG within bgcn homolog (Drosophila) 2005-03-17 2015-09-28 2015-09-28 2015-09-28 84305 ENSG00000170473 OTTHUMG00000170220 BC014976 NM_032345 "CCDS41795|CCDS44916" Q9BRP8 "12438415|12483225" MGI:1925678 RGD:1306096 619753 HGNC:30258 "ENST00000408946.7|NM_032345.3" +HGNC:26162 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "DKFZp762G094|FLJ22028" 2007-08-02 2019-03-01 79912 ENSG00000121350 OTTHUMG00000169129 uc001rew.4 AL832441 NM_024854 "CCDS86287|CCDS31755" Q8WU10 27745833 MGI:2676395 RGD:1303253 617220 HGNC:26162 "ENST00000240651.14|NM_024854.5" HGNC:26162 +HGNC:23517 PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 FLJ23849 C10orf33 chromosome 10 open reading frame 33 MicroRNA protein coding host genes 1691 2003-11-21 2009-04-22 2009-04-22 2015-07-16 84795 ENSG00000119943 OTTHUMG00000018877 uc001kpc.4 AK074429 NM_032709 CCDS7474 Q8N2H3 MGI:1921830 RGD:1303232 617889 HGNC:23517 "ENST00000370575.5|NM_032709.3" +HGNC:44317 PYURF PIGY upstream open reading frame protein-coding gene gene with protein product Approved 4q22.1 04q22.1 PreY PIGY upstream reading frame 2012-08-14 2021-03-11 2021-03-11 100996939 ENSG00000145337 OTTHUMG00000130949 uc003hru.3 NM_032906 CCDS3631 Q96I23 16162815 MGI:1913709 RGD:1565524 HGNC:44317 "ENST00000273968.5|NM_032906.5" +HGNC:9748 PYY peptide YY protein-coding gene gene with protein product Approved 17q21.31 17q21.31 PYY1 prepro-PYY Neuropeptides 1902 1994-09-14 2016-10-05 5697 ENSG00000131096 OTTHUMG00000181801 uc002ieq.4 NM_004160 CCDS32662 P10082 7782089 MGI:99924 RGD:1593289 600781 ligandId:1514 HGNC:9748 "ENST00000692052.1|NM_001394028.1" +HGNC:9749 PYY2 peptide YY 2 (pseudogene) pseudogene pseudogene Approved 17q11.2 17q11.2 seminalplasmin peptide YY, 2 (seminalplasmin) 1999-10-19 2016-08-08 2016-10-05 23615 ENSG00000237575 OTTHUMG00000132450 AF222904 NR_003064 Q9NRI6 7831336 606637 HGNC:9749 +HGNC:31855 PYY3 peptide YY 3 (pseudogene) pseudogene pseudogene Approved Xp11.22 Xp11.22 OTTHUMG00000021515 peptide YY, 3 2006-07-04 2016-08-08 2016-08-08 644059 ENSG00000181977 OTTHUMG00000021515 NG_007615 Q5JQD4 MGI:99924 PGOHUM00000260961 HGNC:31855 +HGNC:9750 PZP PZP alpha-2-macroglobulin like protein-coding gene gene with protein product Approved 12p13.31 12p13.31 CPAMD6 "pregnancy-zone protein|PZP, alpha-2-macroglobulin like" C3 and PZP like, alpha-2-macroglobulin domain containing 1234 1989-06-30 2019-01-25 2019-01-25 5858 ENSG00000126838 OTTHUMG00000154915 uc001qvl.3 "X54380|M24416|X51541" NM_002864 CCDS8600 P20742 "MGI:99836|MGI:99837" RGD:621366 176420 I39.003 HGNC:9750 "ENST00000261336.7|NM_002864.3" +HGNC:9751 QARS1 glutaminyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 glutamine tRNA ligase QARS glutaminyl-tRNA synthetase "Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes" "131|1691" 1994-12-13 2019-07-15 2019-07-15 2021-05-26 5859 ENSG00000172053 OTTHUMG00000156774 uc003cvx.6 X76013 NM_005051 "CCDS63633|CCDS2788" P47897 "8078941|10393422" MGI:1915851 RGD:1359448 603727 406879 6.1.1.18 HGNC:9751 "ENST00000306125.12|NM_005051.3" HGNC:9751 +HGNC:9752 QDPR quinoid dihydropteridine reductase protein-coding gene gene with protein product Approved 4p15.32 04p15.32 "DHPR|PKU2|SDR33C1" "6,7-dihydropteridine reductase|short chain dehydrogenase/reductase family 33C, member 1" Short chain dehydrogenase/reductase superfamily 743 2001-06-22 2016-10-05 5860 ENSG00000151552 OTTHUMG00000128537 uc003gpd.4 AB053170 NM_000320 "CCDS77904|CCDS3421" P09417 19027726 MGI:97836 RGD:619915 BIOMDBdb: Database of Mutations Causing BH4 Deficiencies and other PND|http://www.biopku.org/home/biomdb.asp 612676 118184 1.5.1.34 HGNC:9752 "ENST00000281243.10|NM_000320.3" HGNC:9752 +HGNC:21100 QKI QKI, KH domain containing RNA binding protein-coding gene gene with protein product Approved 6q26 06q26 QK3 quaking homolog, KH domain RNA binding (mouse) 2003-05-19 2016-07-01 2016-07-01 9444 ENSG00000112531 OTTHUMG00000015977 uc003qui.3 AB067798 NM_006775 "CCDS75546|CCDS5286|CCDS5285|CCDS43525|CCDS5287" Q96PU8 10535969 MGI:97837 RGD:1584886 QKI 609590 460502 HGNC:21100 "ENST00000361752.8|NM_006775.3" HGNC:21100 +HGNC:55255 QKILA QKI interacting lncRNA non-coding RNA RNA, long non-coding Approved 4q31.1 04q31.1 Loc490 Long non-coding RNAs with non-systematic symbols 1992 2021-10-07 2021-10-07 101927490 ENSG00000261268 XR_939252 32931453 +HGNC:9753 QPCT glutaminyl-peptide cyclotransferase protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "QC|GCT" glutaminyl cyclase M28 metallopeptidases 1444 1999-11-16 2008-07-31 2016-10-05 25797 ENSG00000115828 OTTHUMG00000100963 uc002rqg.4 X71125 NM_012413 CCDS1790 Q16769 7999256 MGI:1917786 RGD:1562284 607065 M28.974 objectId:2411 2.3.2.5 HGNC:9753 "ENST00000338415.8|NM_012413.4" +HGNC:25952 QPCTL glutaminyl-peptide cyclotransferase like protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ20084 glutaminyl cyclase-like M28 metallopeptidases 1444 2004-10-01 2016-06-22 2016-06-22 54814 ENSG00000011478 OTTHUMG00000182131 uc010xxr.3 AK000091 NM_017659 "CCDS12672|CCDS54282" Q9NXS2 MGI:1914619 RGD:1308128 M28.016 HGNC:25952 "ENST00000012049.10|NM_017659.4" +HGNC:9755 QPRT quinolinate phosphoribosyltransferase protein-coding gene gene with protein product Approved 16p11.2 16p11.2 QPRTase nicotinate-nucleotide pyrophosphorylase (carboxylating) 1999-11-16 2008-07-31 2014-11-19 23475 ENSG00000103485 OTTHUMG00000097770 uc002dto.4 D78177 NM_014298 "CCDS10651|CCDS81965" Q15274 9473669 MGI:1914625 RGD:1310309 606248 2.4.2.19 HGNC:9755 "ENST00000395384.9|NM_014298.6" +HGNC:29982 QRFP pyroglutamylated RFamide peptide protein-coding gene gene with protein product Approved 9q34.12 09q34.12 "26RFa|P518|prepro-26RFa" prepro-QRFP Receptor ligands 542 2007-06-14 2021-01-26 347148 ENSG00000188710 OTTHUMG00000131663 uc064woc.1 AB109625 NM_198180 CCDS6936 P83859 "12714592|15808908" MGI:3630329 RGD:735020 609795 ligandId:3665 HGNC:29982 "ENST00000623824.2|NM_198180.3" +HGNC:15565 QRFPR pyroglutamylated RFamide peptide receptor protein-coding gene gene with protein product Approved 4q27 04q27 peptide P518 receptor GPR103 G protein-coupled receptor 103 Peptide receptors 220 2001-06-25 2008-12-18 2008-12-18 2015-09-01 84109 ENSG00000186867 OTTHUMG00000133036 uc010inj.2 AF411117 NM_198179 CCDS3719 Q96P65 11574155 MGI:2677633 RGD:728380 606925 objectId:333 HGNC:15565 "ENST00000394427.3|NM_198179.3" +HGNC:24713 QRICH1 glutamine rich 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ20259|VERBRAS|AB-DIP" Caspase recruitment domain containing 959 2005-12-19 2016-01-27 2018-07-31 54870 ENSG00000198218 OTTHUMG00000156772 uc003cvv.4 NM_017730 CCDS2787 Q2TAL8 "15923395|28692176" MGI:1916482 RGD:1311095 617387 HGNC:24713 "ENST00000395443.7|NM_198880.3" HGNC:24713 +HGNC:25326 QRICH2 glutamine rich 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 DKFZP434P0316 2005-12-21 2014-11-19 84074 ENSG00000129646 OTTHUMG00000167578 uc002jrd.1 AK058102 NM_032134 CCDS32741 Q9H0J4 MGI:2684912 RGD:1562974 618304 HGNC:25326 "ENST00000680821.2|NM_001388453.1" HGNC:25326 +HGNC:21020 QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 protein-coding gene gene with protein product Approved 6q21 06q21 "GatA|FLJ10989|FLJ12189|DKFZP564C1278|FLJ13447|GATA" glutamyl-tRNA(Gln) amidotransferase, subunit A "glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1|QRSL1, glutaminyl-tRNA amidotransferase subunit A" Glutamyl-tRNA amidotransferase subunits 1663 2003-05-06 2019-01-22 2019-04-25 55278 ENSG00000130348 OTTHUMG00000015301 uc003prm.4 AK001851 NM_018292 CCDS5057 Q9H0R6 19805282 MGI:1923813 RGD:1359490 617209 HGNC:21020 "ENST00000369046.8|NM_018292.5" HGNC:21020 +HGNC:43667 QRSL1P1 QRSL1 pseudogene 1 pseudogene pseudogene Approved 1q24.2 01q24.2 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 1 2012-01-26 2018-08-09 2018-08-09 730016 ENSG00000215833 OTTHUMG00000034645 NG_009546 PGOHUM00000244326 HGNC:43667 +HGNC:43668 QRSL1P2 QRSL1 pseudogene 2 pseudogene pseudogene Approved 1q41 01q41 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 2 2012-01-26 2018-08-09 2018-08-09 100422330 ENSG00000227613 OTTHUMG00000037422 NG_027044 PGOHUM00000244436 HGNC:43668 +HGNC:43669 QRSL1P3 QRSL1 pseudogene 3 pseudogene pseudogene Approved 14q13.2 14q13.2 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 pseudogene 3 2012-01-26 2018-08-09 2018-08-09 100422374 ENSG00000257957 OTTHUMG00000170562 NG_027348 PGOHUM00000248135 HGNC:43669 +HGNC:26154 QSER1 glutamine and serine rich 1 protein-coding gene gene with protein product Approved 11p13 11p13 FLJ21924 2006-02-06 2014-11-19 79832 ENSG00000060749 OTTHUMG00000166220 uc001mty.4 AL834141 NM_024774 CCDS41631 Q2KHR3 MGI:2138986 RGD:1311804 619440 HGNC:26154 "ENST00000650167.2|NM_001076786.3" +HGNC:9756 QSOX1 quiescin sulfhydryl oxidase 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 thiol oxidase 1 QSCN6 "quiescin Q6|quiescin Q6 sulfhydryl oxidase 1" 1998-05-15 2007-04-23 2015-11-27 2016-10-05 5768 ENSG00000116260 OTTHUMG00000035256 uc001gnz.4 U97276 NM_002826 "CCDS1337|CCDS30950" O00391 "9878249|8396966|12176051" MGI:1330818 RGD:68957 603120 1.8.3.2 HGNC:9756 "ENST00000367602.8|NM_002826.5" +HGNC:30249 QSOX2 quiescin sulfhydryl oxidase 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "SOXN|DKFZp762A2013" thiol oxidase 2 QSCN6L1 "quiescin Q6-like 1|quiescin Q6 sulfhydryl oxidase 2" 2004-01-06 2007-04-23 2015-11-27 2015-11-27 169714 ENSG00000165661 OTTHUMG00000020923 uc010nbi.4 AJ318051 NM_181701 CCDS35178 Q6ZRP7 12176051 MGI:2387194 RGD:1584720 612860 1.8.3.2 HGNC:30249 "ENST00000358701.10|NM_181701.4" +HGNC:23797 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 TGT tRNA-guanine transglycosylase queuine tRNA-ribosyltransferase 1 2003-12-10 2016-02-23 2016-02-23 81890 ENSG00000213339 OTTHUMG00000180588 uc002mpr.4 AF302783 NM_031209 CCDS12248 Q9BXR0 20354154 MGI:1931441 RGD:620996 609615 2.4.2.29 HGNC:23797 "ENST00000250237.10|NM_031209.3" +HGNC:39179 QTRT1P1 queuine tRNA-ribosyltransferase catalytic subunit 1 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 queuine tRNA-ribosyltransferase 1 pseudogene 1 2010-11-16 2016-02-23 2016-02-23 100420656 ENSG00000270524 OTTHUMG00000184984 NG_026873 PGOHUM00000241955 HGNC:39179 +HGNC:25771 QTRT2 queuine tRNA-ribosyltransferase accessory subunit 2 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 FLJ12960 QTRTD1 queuine tRNA-ribosyltransferase domain containing 1 2003-12-18 2016-02-23 2016-02-23 2016-02-23 79691 ENSG00000151576 OTTHUMG00000159336 uc003eay.5 AK023022 NM_024638 "CCDS58844|CCDS33828|CCDS58846|CCDS58845" Q9H974 "19414587|20354154" MGI:1922194 RGD:1310054 HGNC:25771 "ENST00000281273.8|NM_024638.4" +HGNC:27329 R3HCC1 R3H domain and coiled-coil containing 1 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 DKFZp564N123 2005-09-02 2005-11-20 2016-04-25 203069 ENSG00000104679 OTTHUMG00000163786 uc003xdf.4 NM_001136108 "CCDS78317|CCDS47826" Q9Y3T6 12477932 MGI:1919093 RGD:1311790 HGNC:27329 "ENST00000265806.12|NM_001136108.3" +HGNC:23512 R3HCC1L R3H domain and coiled-coil containing 1 like protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "GIDRP86|PSORT" C10orf28 "chromosome 10 open reading frame 28|R3H domain and coiled-coil containing 1-like" 2003-11-21 2012-05-23 2015-12-04 2015-12-04 27291 ENSG00000166024 OTTHUMG00000018873 uc009xvx.4 AF525304 NM_014472 "CCDS73178|CCDS31267|CCDS58093" Q7Z5L2 MGI:1196316 RGD:1307934 HGNC:23512 "ENST00000298999.8|NM_001351015.2" +HGNC:9757 R3HDM1 R3H domain containing 1 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 KIAA0029 R3HDM R3H domain (binds single-stranded nucleic acids) containing MicroRNA protein coding host genes 1691 2000-08-11 2005-09-02 2005-09-02 2014-11-19 23518 ENSG00000048991 OTTHUMG00000131740 uc002tuo.5 D21852 NM_015361 "CCDS63024|CCDS2177|CCDS63025|CCDS63026" Q15032 7584026 MGI:2448514 RGD:1307497 619474 HGNC:9757 "ENST00000683871.1|NM_001378107.1" +HGNC:29167 R3HDM2 R3H domain containing 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 KIAA1002 2006-02-01 2014-11-19 22864 ENSG00000179912 OTTHUMG00000171568 uc001sns.3 AB023219 NM_014925 "CCDS81704|CCDS8937|CCDS81703" Q9Y2K5 MGI:1919000 RGD:1310066 HGNC:29167 "ENST00000402412.6|NM_001394031.1" +HGNC:55457 R3HDM2-DT R3HDM2 divergent transcript non-coding RNA RNA, long non-coding Approved 12q13.3 12q13.3 Divergent transcripts 1990 2021-01-20 2021-01-20 120766140 ENSG00000258001 +HGNC:44056 R3HDM2P1 R3H domain containing 2 pseudogene 1 pseudogene pseudogene Approved 4q28.3 04q28.3 2012-05-30 2014-11-19 100419742 ENSG00000248735 OTTHUMG00000161300 NG_025254 PGOHUM00000246082 HGNC:44056 +HGNC:44057 R3HDM2P2 R3H domain containing 2 pseudogene 2 pseudogene pseudogene Approved 6q16.3 06q16.3 2012-05-30 2014-11-19 100129694 ENSG00000216817 OTTHUMG00000015285 NG_022319 PGOHUM00000243310 HGNC:44057 +HGNC:28270 R3HDM4 R3H domain containing 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC16353 C19orf22 chromosome 19 open reading frame 22 2004-03-16 2011-11-23 2011-11-23 2014-11-19 91300 ENSG00000198858 OTTHUMG00000181899 uc002lqg.3 BC012775 NM_138774 CCDS12048 Q96D70 12477932 MGI:1924814 RGD:1307067 HGNC:28270 "ENST00000361574.10|NM_138774.4" +HGNC:16249 R3HDML R3H domain containing like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ881L22.3 "R3H domain (binds single-stranded nucleic acids) containing-like|R3H domain containing-like" CAP superfamily 1356 2005-02-14 2016-04-12 2016-04-12 140902 ENSG00000101074 OTTHUMG00000032524 uc002xls.3 BC107048 NM_178491 CCDS13329 Q9H3Y0 MGI:3650937 RGD:1305296 HGNC:16249 "ENST00000217043.4|NM_178491.4" +HGNC:55830 R3HDML-AS1 R3HDML antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 Antisense RNAs 1987 2021-08-02 2021-08-02 105372629 ENSG00000226812 XR_936745 +HGNC:9758 RAB1A RAB1A, member RAS oncogene family protein-coding gene gene with protein product Approved 2p14 02p14 YPT1 Rab GTPase YPT1 homolog (yeast) RAB1 RAB, member RAS oncogene GTPases 388 1990-01-22 2002-03-17 2014-11-18 5861 ENSG00000138069 OTTHUMG00000152725 uc002sdm.4 M28209 NM_004161 "CCDS46305|CCDS46306" P62820 2501306 MGI:97842 RGD:619736 179508 HGNC:9758 "ENST00000409784.8|NM_004161.5" +HGNC:54644 RAB1AP1 RAB1A pseudogene 1 pseudogene pseudogene Approved 2q32.2 02q32.2 2019-11-06 2019-11-06 100420571 ENSG00000229023 NG_023644 +HGNC:54645 RAB1AP2 RAB1A pseudogene 2 pseudogene pseudogene Approved 6q14.3 06q14.3 2019-11-06 2019-11-06 643916 ENSG00000217272 NG_022314 +HGNC:18370 RAB1B RAB1B, member RAS oncogene family protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "RAB, member RAS oncogene GTPases|Small nucleolar RNA protein coding host genes" "388|1835" 2002-03-14 2016-10-05 81876 ENSG00000174903 OTTHUMG00000166916 uc001ohf.4 AJ245875 NM_030981 CCDS31613 Q9H0U4 9030196 MGI:1923558 RGD:1642882 612565 HGNC:18370 "ENST00000311481.11|NM_030981.3" +HGNC:23683 RAB1C RAB1C, member RAS oncogene family pseudogene pseudogene pseudogene Approved 9p13.2 09p13.2 RAB1C, member RAS oncogene family RAB, member RAS oncogene GTPases 388 2005-12-22 2007-08-10 2016-10-05 441400 ENSG00000233111 OTTHUMG00000019925 NG_005395 Q92928 MGI:1923558 HGNC:23683 +HGNC:9763 RAB2A RAB2A, member RAS oncogene family protein-coding gene gene with protein product Approved 8q12.1-q12.2 08q12.1-q12.2 RAB2 RAB2, member RAS oncogene family RAB, member RAS oncogene GTPases 388 1990-01-22 2007-01-15 2007-01-15 2018-02-13 5862 ENSG00000104388 OTTHUMG00000134298 uc003xud.3 NM_001242644 "CCDS56537|CCDS6175" P61019 MGI:1928750 RGD:68323 179509 HGNC:9763 "ENST00000262646.12|NM_002865.3" +HGNC:20246 RAB2B RAB2B, member RAS oncogene family protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ14824 RAB, member RAS oncogene GTPases 388 2003-01-14 2016-10-05 84932 ENSG00000129472 OTTHUMG00000029693 uc010tlt.2 AK027730 NM_001163380 CCDS9570 Q8WUD1 12376746 MGI:1923588 RGD:1309117 607466 HGNC:20246 "ENST00000397762.6|NM_032846.4" +HGNC:9777 RAB3A RAB3A, member RAS oncogene family protein-coding gene gene with protein product Approved 19p13.11 19p13.11 RAS-associated protein RAB3A RAB, member RAS oncogene GTPases 388 1989-06-30 2016-10-05 5864 ENSG00000105649 OTTHUMG00000137378 uc002nie.3 NM_002866 CCDS12372 P20336 "2687157|7532276" MGI:97843 RGD:3528 179490 HGNC:9777 "ENST00000222256.9|NM_002866.5" +HGNC:9778 RAB3B RAB3B, member RAS oncogene family protein-coding gene gene with protein product Approved 1p32.3 01p32.3 RAB, member RAS oncogene GTPases 388 1989-06-30 2016-10-05 5865 ENSG00000169213 OTTHUMG00000008627 uc001cth.3 BC005035 NM_002867 CCDS560 P20337 MGI:1917158 RGD:620922 179510 HGNC:9778 "ENST00000371655.4|NM_002867.4" +HGNC:30269 RAB3C RAB3C, member RAS oncogene family protein-coding gene gene with protein product Approved 5q11.2 05q11.2 RAB, member RAS oncogene GTPases 388 2004-01-29 2016-10-05 115827 ENSG00000152932 OTTHUMG00000097053 uc003jrp.4 AY026936 NM_138453 CCDS3976 Q96E17 12296628 MGI:1914545 RGD:620923 612829 HGNC:30269 "ENST00000282878.6|NM_138453.4" +HGNC:9779 RAB3D RAB3D, member RAS oncogene family protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "RAB16|D2-2|RAD3D" "Rab3D upregulated with myeloid differentiation|glioblastoma overexpressed" GOV RAB, member RAS oncogene GTPases 388 1999-06-02 2014-11-19 9545 ENSG00000105514 OTTHUMG00000180835 uc060tqf.1 AF081353 NM_004283 CCDS12257 O95716 "10023084|10072586" MGI:97844 RGD:620924 604350 HGNC:9779 "ENST00000222120.8|NM_004283.4" +HGNC:17063 RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "RAB3GAP|KIAA0066|RAB3GAP130|WARBM1" RAB3 GTPase activating protein subunit 1 (catalytic) 2005-08-23 2015-11-18 2021-05-26 22930 ENSG00000115839 OTTHUMG00000154889 uc002tuj.4 D31886 NM_012233 "CCDS33294|CCDS54402" Q15042 "9030515|15696165" MGI:2445001 RGD:1306487 602536 118194 HGNC:17063 "ENST00000264158.13|NM_012233.3" HGNC:17063 +HGNC:17168 RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 protein-coding gene gene with protein product Approved 1q41 01q41 "RAB3-GAP150|KIAA0839|DKFZP434D245|SPG69" RAB3 GTPase activating protein subunit 2 (non-catalytic) "MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes" "1691|1835" 2005-08-23 2015-11-18 2021-05-26 25782 ENSG00000118873 OTTHUMG00000037139 uc057pnr.1 AB020646 NM_012414 CCDS31028 Q9H2M9 "15696165|16532399|24482476" MGI:1916043 RGD:1311518 609275 118200 HGNC:17168 "ENST00000358951.7|NM_012414.4" HGNC:17168 +HGNC:9780 RAB3IL1 RAB3A interacting protein like 1 protein-coding gene gene with protein product Approved 11q12.2-q12.3 11q12.2-q12.3 GRAB guanine nucleotide exchange factor for Rab3A RAB3A interacting protein (rabin3)-like 1 1998-07-30 2016-04-26 2018-02-13 5866 ENSG00000167994 OTTHUMG00000167524 uc001nso.5 AF084557 NM_013401 "CCDS8014|CCDS60809" Q8TBN0 11516400 MGI:1922010 RGD:619764 HGNC:9780 "ENST00000394836.7|NM_013401.4" +HGNC:16508 RAB3IP RAB3A interacting protein protein-coding gene gene with protein product Approved 12q15 12q15 "RABIN3|FLJ22548|RABIN8" rabin3 2001-11-12 2013-01-22 2015-08-25 117177 ENSG00000127328 OTTHUMG00000169437 uc001svp.4 NM_022456 "CCDS8995|CCDS41811|CCDS8996|CCDS8993|CCDS44942" Q96QF0 12221131 MGI:105933 RGD:620650 608686 HGNC:16508 "ENST00000247833.12|NM_022456.5" +HGNC:9781 RAB4A RAB4A, member RAS oncogene family protein-coding gene gene with protein product Approved 1q42.13 01q42.13 HRES-1/RAB4 RAB4 RAB, member RAS oncogene GTPases 388 1989-09-11 2002-02-28 2016-10-05 5867 ENSG00000168118 OTTHUMG00000037627 uc001hth.5 BC004309 NM_004578 "CCDS31050|CCDS73046" P20338 MGI:105069 RGD:3529 179511 HGNC:9781 "ENST00000366690.5|NM_004578.4" +HGNC:55934 RAB4A-AS1 RAB4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 Antisense RNAs 1987 2021-11-08 2021-11-08 105373159 ENSG00000177788 NR_149312 +HGNC:9782 RAB4B RAB4B, member RAS oncogene family protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ78649|MGC52123" "ras-related GTP-binding protein 4b|small GTP binding protein RAB4B" RAB, member RAS oncogene GTPases 388 2000-05-31 2015-09-02 53916 ENSG00000167578 OTTHUMG00000182694 uc002opd.3 AF165522 NM_016154 CCDS33030 P61018 MGI:105071 RGD:620931 612945 HGNC:9782 "ENST00000357052.8|NM_016154.5" +HGNC:44465 RAB4B-EGLN2 RAB4B-EGLN2 readthrough (NMD candidate) other readthrough Approved 19q13.2 19q13.2 RERT-lncRNA RAB4B-EGLN2 readthrough long non-coding RNA 2012-10-10 2013-05-09 2016-11-25 100529264 ENSG00000171570 OTTHUMG00000182702 uc060yxf.1 AK291385 NR_037791 23026137 rab4b-egln2 HGNC:44465 +HGNC:9783 RAB5A RAB5A, member RAS oncogene family protein-coding gene gene with protein product Approved 3p24.3 03p24.3 RAS-associated protein RAB5A RAB5 RAB, member RAS oncogene GTPases 388 1990-01-22 2015-06-29 5868 ENSG00000144566 OTTHUMG00000129889 uc003cbn.4 NM_004162 "CCDS77710|CCDS2633" P20339 1999336 MGI:105926 RGD:620936 179512 HGNC:9783 "ENST00000273047.9|NM_004162.5" +HGNC:9784 RAB5B RAB5B, member RAS oncogene family protein-coding gene gene with protein product Approved 12q13.2 12q13.2 RAB, member RAS oncogene GTPases 388 1994-08-30 2019-08-20 5869 ENSG00000111540 OTTHUMG00000169682 uc001siw.3 NM_001252036 "CCDS8900|CCDS58244" P61020 "1541686|10403367" MGI:105938 RGD:1306489 179514 HGNC:9784 "ENST00000360299.10|NM_002868.4" +HGNC:9785 RAB5C RAB5C, member RAS oncogene family protein-coding gene gene with protein product Approved 17q21.2 17q21.2 RAB5CL "RAB, member of RAS oncogene family-like|RAB5C, member of RAS oncogene family" RABL RAB, member RAS oncogene GTPases 388 1999-10-04 2013-02-15 5878 ENSG00000108774 OTTHUMG00000169703 uc060fhb.1 U18420 NM_004583 "CCDS58551|CCDS11419" P51148 8646882 MGI:105306 RGD:1307095 604037 HGNC:9785 "ENST00000346213.9|NM_004583.4" +HGNC:55289 RAB5C-AS1 RAB5C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 Antisense RNAs 1987 2020-10-14 2020-10-14 105371781 ENSG00000267658 XR_001752888 +HGNC:45104 RAB5CP1 RAB5C, member RAS oncogene family pseudogene 1 pseudogene pseudogene Approved 10q22.2 10q22.2 2013-02-15 2013-02-15 100420734 ENSG00000213731 OTTHUMG00000018501 NG_025447 PGOHUM00000261087 HGNC:45104 +HGNC:45106 RAB5CP2 RAB5C, member RAS oncogene family pseudogene 2 pseudogene pseudogene Approved 5q14.3 05q14.3 2013-02-15 2013-02-15 133789 ENSG00000251356 OTTHUMG00000162620 NG_021889 PGOHUM00000261413 HGNC:45106 +HGNC:15870 RAB5IF RAB5 interacting factor protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "PNAS-11|RIP5|RCAF1" respirasome complex assembly factor 1 C20orf24 chromosome 20 open reading frame 24 2001-06-21 2018-02-16 2018-02-16 2021-02-01 55969 ENSG00000101084 OTTHUMG00000032384 uc002xfq.3 AF112213 NM_018840 "CCDS13280|CCDS56190|CCDS13279" Q9BUV8 "8824393|19526728|31536960|30292820" MGI:1914638 RGD:1307752 HGNC:15870 "ENST00000344795.8|NM_018840.5" +HGNC:9786 RAB6A RAB6A, member RAS oncogene family protein-coding gene gene with protein product Approved 11q13.4 11q13.4 RAB6 RAB, member RAS oncogene GTPases 388 1990-01-22 2016-10-05 5870 ENSG00000175582 OTTHUMG00000134308 uc001oue.4 AF130986 NM_001243718 "CCDS58156|CCDS8224|CCDS8223|CCDS58155" P20340 MGI:894313 RGD:619737 179513 HGNC:9786 "ENST00000336083.8|NM_198896.2" +HGNC:14902 RAB6B RAB6B, member RAS oncogene family protein-coding gene gene with protein product Approved 3q22.1 03q22.1 RAB, member RAS oncogene GTPases 388 2001-03-13 2015-09-02 51560 ENSG00000154917 OTTHUMG00000159749 uc003epy.4 AF166492 NM_001363953 "CCDS87137|CCDS3082" Q9NRW1 MGI:107283 RGD:1309958 615852 HGNC:14902 "ENST00000285208.9|NM_016577.4" +HGNC:16525 RAB6C RAB6C, member RAS oncogene family protein-coding gene gene with protein product Approved 2q21.1 02q21.1 WTH3 RAB, member RAS oncogene GTPases 388 2001-09-14 2015-09-04 84084 ENSG00000222014 OTTHUMG00000153487 uc002tpx.2 AF124200 NM_032144 CCDS46408 Q9H0N0 "11054569|17426708" 612909 HGNC:16525 "ENST00000410061.4|NM_032144.3" +HGNC:49278 RAB6C-AS1 RAB6C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q21.1 02q21.1 Antisense RNAs 1987 2013-10-15 2013-10-15 100131320 ENSG00000225449 OTTHUMG00000153499 NR_036537 HGNC:49278 +HGNC:30272 RAB6D RAB6D, member RAS oncogene family protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "RAB6CL|WTH3DI" 2017-10-17 2017-10-17 150786 ENSG00000233087 OTTHUMG00000153556 NM_001077637 CCDS82514 Q53S08 9847074 HGNC:30272 "ENST00000623617.3|NM_001077637.3" +HGNC:9788 RAB7A RAB7A, member RAS oncogene family protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "RAB7|CMT2B" "RAB7, member RAS oncogene family|Charcot-Marie-Tooth neuropathy 2B" RAB, member RAS oncogene GTPases 388 1999-03-24 2007-01-15 2007-01-15 2021-05-26 7879 ENSG00000075785 OTTHUMG00000159812 uc003eks.2 X93499 NM_004637 CCDS3052 P51149 "9126495|9428630|12545426" MGI:105068 RGD:61908 LRG_266|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_266.xml 602298 118205 HGNC:9788 "ENST00000265062.8|NM_004637.6" HGNC:9788 +HGNC:30513 RAB7B RAB7B, member RAS oncogene family protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "MGC9726|MGC16212" RAB, member RAS oncogene GTPases 388 2004-06-28 2015-08-25 338382 ENSG00000276600 OTTHUMG00000189246 uc031vld.2 AY094596 NM_177403 "CCDS73011|CCDS76258" Q96AH8 15144907 MGI:2442295 RGD:1562617 HGNC:30513 "ENST00000617070.5|NM_001164522.3" +HGNC:7007 RAB8A RAB8A, member RAS oncogene family protein-coding gene gene with protein product Approved 19p13.11 19p13.11 RAB8 MEL mel transforming oncogene (derived from cell line NK14) RAB, member RAS oncogene GTPases 388 1986-01-01 2004-01-30 2004-01-30 2016-01-15 4218 ENSG00000167461 OTTHUMG00000182238 uc002ndn.5 NM_005370 CCDS12339 P61006 "1886711|8408203" MGI:96960 RGD:621144 165040 HGNC:7007 "ENST00000300935.8|NM_005370.5" +HGNC:30273 RAB8B RAB8B, member RAS oncogene family protein-coding gene gene with protein product Approved 15q22.2 15q22.2 RAB, member RAS oncogene GTPases 388 2004-01-29 2016-10-05 51762 ENSG00000166128 OTTHUMG00000132862 uc002alz.4 AL833365 NM_016530 CCDS10183 Q92930 "9030196|18772196" MGI:2442982 RGD:628764 613532 HGNC:30273 "ENST00000321437.9|NM_016530.3" +HGNC:9792 RAB9A RAB9A, member RAS oncogene family protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 RAB9 RAB9, member RAS oncogene family RAB, member RAS oncogene GTPases 388 1999-03-24 2007-01-15 2007-01-15 2014-11-18 9367 ENSG00000123595 OTTHUMG00000021156 uc004cvm.5 U44103 NM_004251 CCDS14156 P51151 9126495 MGI:1890695 RGD:619740 300284 HGNC:9792 "ENST00000464506.2|NM_004251.5" +HGNC:38104 RAB9AP1 RAB9A, member RAS oncogene family pseudogene 1 pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-04-19 2016-10-05 100287200 ENSG00000232910 OTTHUMG00000044985 NG_023018 PGOHUM00000234044 HGNC:38104 +HGNC:38106 RAB9AP2 RAB9A, member RAS oncogene family pseudogene 2 pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-04-19 2010-07-23 2014-11-19 100287542 ENSG00000223856 OTTHUMG00000045292 NG_004755 PGOHUM00000233874 HGNC:38106 +HGNC:38107 RAB9AP3 RAB9A, member RAS oncogene family pseudogene 3 pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-04-19 2010-07-23 2016-10-05 100287577 ENSG00000223655 OTTHUMG00000045262 NG_004755 PGOHUM00000233878 HGNC:38107 +HGNC:38108 RAB9AP4 RAB9A, member RAS oncogene family pseudogene 4 pseudogene pseudogene Approved Yq11.222 Yq11.222 2010-04-19 2010-07-23 2014-11-19 100288397 ENSG00000235479 OTTHUMG00000041986 NG_004636 PGOHUM00000233995 HGNC:38108 +HGNC:38109 RAB9AP5 RAB9A, member RAS oncogene family pseudogene 5 pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-04-19 2010-07-23 2014-11-19 100287234 ENSG00000231423 OTTHUMG00000044991 NG_004755 PGOHUM00000234048 HGNC:38109 +HGNC:14090 RAB9B RAB9B, member RAS oncogene family protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 RAB9L RAB, member RAS oncogene GTPases 388 2002-02-28 2020-04-02 51209 ENSG00000123570 OTTHUMG00000022112 uc004ell.3 AB036693 NM_016370 CCDS14515 Q9NP90 11043518 MGI:2442454 RGD:1562951 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAB9B 300285 HGNC:14090 "ENST00000243298.3|NM_016370.4" +HGNC:9793 RAB9BP1 RAB9B, member RAS oncogene family pseudogene 1 pseudogene pseudogene Approved 5q21.2-q21.3 05q21.2-q21.3 RAB9P1 RAB9, member RAS oncogene family, pseudogene 1 1999-03-24 2010-04-19 2010-04-19 2018-02-13 9366 ENSG00000232159 OTTHUMG00000164279 U44105 NR_000039 9126495 PGOHUM00000235722 HGNC:9793 +HGNC:9759 RAB10 RAB10, member RAS oncogene family protein-coding gene gene with protein product Approved 2p23.3 02p23.3 ras-related GTP-binding protein RAB, member RAS oncogene GTPases 388 1999-07-30 2014-11-18 10890 ENSG00000084733 OTTHUMG00000094796 uc002rgv.4 AF106681 NM_016131 CCDS1720 P61026 7688123 MGI:105066 RGD:620879 612672 470940 HGNC:9759 "ENST00000264710.5|NM_016131.5" +HGNC:9760 RAB11A RAB11A, member RAS oncogene family protein-coding gene gene with protein product Approved 15q22.31 15q22.31 YL8 RAB, member RAS oncogene GTPases 388 1999-02-09 2021-05-26 8766 ENSG00000103769 OTTHUMG00000133162 uc002apk.4 X56740 NM_001206836 "CCDS58373|CCDS10212" P62491 "1704119|9662449" MGI:1858202 RGD:619762 605570 HGNC:9760 "ENST00000261890.7|NM_004663.5" HGNC:9760 +HGNC:45188 RAB11AP1 RAB11A, member RAS oncogene family pseudogene 1 pseudogene pseudogene Approved 10q23.33 10q23.33 2013-03-05 2013-03-05 100129731 ENSG00000227995 OTTHUMG00000018778 NG_022154 PGOHUM00000258503 HGNC:45188 +HGNC:45189 RAB11AP2 RAB11A, member RAS oncogene family pseudogene 2 pseudogene pseudogene Approved 12q14.3 12q14.3 2013-03-05 2013-03-05 106480447 ENSG00000255976 OTTHUMG00000169050 NG_043433 PGOHUM00000239504 HGNC:45189 +HGNC:9761 RAB11B RAB11B, member RAS oncogene family protein-coding gene gene with protein product Approved 19p13.2 19p13.2 H-YPT3 RAB, member RAS oncogene GTPases 388 1999-02-23 2021-05-26 9230 ENSG00000185236 OTTHUMG00000182278 uc002mju.5 X79780 NM_004218 CCDS12201 Q15907 7811277 MGI:99425 RGD:68369 604198 HGNC:9761 "ENST00000328024.11|NM_004218.4" HGNC:9761 +HGNC:44178 RAB11B-AS1 RAB11B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 MIR4999HG MIR4999 host gene RAB11B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2018-09-07 100507567 ENSG00000269386 OTTHUMG00000182274 uc002mjt.5 BC014506 NR_038237 29928484 MGI:4936885 RAB11B-AS1 HGNC:44178 +HGNC:30265 RAB11FIP1 RAB11 family interacting protein 1 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "RCP|FLJ22622|FLJ22524|Rab11-FIP1" RAB11 family interacting protein 1 (class I) "C2 domain containing|RAB11 binding domain containing" "823|1623" 2004-07-22 2016-04-29 2016-10-05 80223 ENSG00000156675 OTTHUMG00000164026 uc003xkn.3 AK092296 NM_025151 "CCDS34882|CCDS34881" Q6WKZ4 "11786538|11495908" MGI:1923017 RGD:1562965 608737 HGNC:30265 "ENST00000330843.9|NM_001002814.3" +HGNC:42366 RAB11FIP1P1 RAB11 family interacting protein 1 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 RAB11 family interacting protein 1 (class I) pseudogene 1 2011-07-05 2016-04-29 2016-04-29 646080 ENSG00000228492 OTTHUMG00000021849 NG_007008 PGOHUM00000257272 HGNC:42366 +HGNC:29152 RAB11FIP2 RAB11 family interacting protein 2 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "KIAA0941|nRip11|Rab11-FIP2" RAB11 family interacting protein 2 (class I) "C2 domain containing|RAB11 binding domain containing" "823|1623" 2004-07-22 2016-04-29 2016-10-05 22841 ENSG00000107560 OTTHUMG00000019128 uc001ldj.2 AY037299 NM_014904 "CCDS7602|CCDS81512" Q7L804 "11994279|10231032" MGI:1922248 RGD:1308538 608599 HGNC:29152 "ENST00000355624.8|NM_014904.3" +HGNC:17224 RAB11FIP3 RAB11 family interacting protein 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA0665|Rab11-FIP3|eferin" arfophilin-1 RAB11 family interacting protein 3 (class II) "EF-hand domain containing|RAB11 binding domain containing" "863|1623" 2004-07-22 2016-04-29 2016-04-29 9727 ENSG00000090565 OTTHUMG00000047843 uc002chf.4 AB014565 NM_014700 CCDS32351 O75154 "9734811|11481332" MGI:2444431 RGD:1308952 608738 HGNC:17224 "ENST00000262305.9|NM_014700.4" +HGNC:30267 RAB11FIP4 RAB11 family interacting protein 4 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "RAB11-FIP4|KIAA1821|MGC11316|FLJ00131" RAB11 family interacting protein 4 (class II) "EF-hand domain containing|RAB11 binding domain containing|MicroRNA protein coding host genes" "863|1623|1691" 2004-07-22 2016-04-29 2016-04-29 84440 ENSG00000131242 OTTHUMG00000132787 uc032fao.2 AB058724 NM_032932 "CCDS11267|CCDS76985" Q86YS3 "11347906|11468690" MGI:2442920 RGD:1305063 611999 HGNC:30267 "ENST00000621161.5|NM_032932.6" +HGNC:24845 RAB11FIP5 RAB11 family interacting protein 5 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "GAF1|KIAA0857|RIP11|pp75" RAB11 family interacting protein 5 (class I) "C2 domain containing|RAB11 binding domain containing" "823|1623" 2004-07-22 2016-04-29 2016-10-05 26056 ENSG00000135631 OTTHUMG00000129779 uc002siu.4 AF334812 NM_015470 CCDS1923 Q9BXF6 "10048485|11163216" MGI:1098586 RGD:1592069 605536 HGNC:24845 "ENST00000486777.7|NM_001371272.1" +HGNC:31332 RAB12 RAB12, member RAS oncogene family protein-coding gene gene with protein product Approved 18p11.22 18p11.22 RAB, member RAS oncogene GTPases 388 2005-02-09 2019-08-20 201475 ENSG00000206418 OTTHUMG00000178949 uc002knp.4 NM_001025300 CCDS42410 Q6IQ22 MGI:894284 RGD:3527 616448 HGNC:31332 "ENST00000649141.2|NM_001025300.3" +HGNC:9762 RAB13 RAB13, member RAS oncogene family protein-coding gene gene with protein product Approved 1q21.3 01q21.3 RAB, member RAS oncogene GTPases 388 1998-01-21 2016-10-05 5872 ENSG00000143545 OTTHUMG00000036589 uc001fdt.3 X75593 NM_002870 "CCDS72921|CCDS1058" P51153 8294494 MGI:1927232 RGD:620880 602672 HGNC:9762 "ENST00000368575.5|NM_002870.5" +HGNC:16524 RAB14 RAB14, member RAS oncogene family protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "FBP|RAB-14" "F protein-binding protein 1|bA165P4.3 (member RAS oncogene family)|small GTP binding protein RAB14" RAB, member RAS oncogene GTPases 388 2001-09-14 2021-05-26 51552 ENSG00000119396 OTTHUMG00000020582 uc004blc.4 AF152463 NM_016322 CCDS6827 P61106 "9792283|15004230" MGI:1915615 RGD:620881 612673 HGNC:16524 "ENST00000373840.9|NM_016322.4" +HGNC:20150 RAB15 RAB15, member RAS oncogene family protein-coding gene gene with protein product Approved 14q23.3 14q23.3 RAB, member RAS oncogene GTPases 388 2002-12-18 2012-02-28 2020-04-20 376267 ENSG00000139998 OTTHUMG00000142810 uc021rut.2 BC014511 NM_198686 "CCDS9768|CCDS76691|CCDS81812" P59190 11697911 MGI:1916865 RGD:735172 619547 HGNC:20150 "ENST00000533601.7|NM_001308154.2" +HGNC:16523 RAB17 RAB17, member RAS oncogene family protein-coding gene gene with protein product Approved 2q37.3 02q37.3 RAB, member RAS oncogene GTPases 388 2001-09-14 2015-08-25 64284 ENSG00000124839 OTTHUMG00000133299 uc002vwz.3 AK022600 NM_022449 CCDS2520 Q9H0T7 9624171 MGI:104640 RGD:1562478 602206 HGNC:16523 "ENST00000264601.8|NM_022449.4" +HGNC:56028 RAB17-DT RAB17 divergent transcript non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Divergent transcripts 1990 2021-12-03 2021-12-03 105373958 ENSG00000234949 XR_001739964 +HGNC:14244 RAB18 RAB18, member RAS oncogene family protein-coding gene gene with protein product Approved 10p12.1 10p12.1 RAB, member RAS oncogene GTPases 388 2000-12-12 2021-05-26 22931 ENSG00000099246 OTTHUMG00000017861 uc001itv.5 AJ277145 NM_021252 "CCDS7155|CCDS58073|CCDS73081" Q9NP72 10648831 MGI:102790 RGD:1308905 602207 268016 HGNC:14244 "ENST00000356940.11|NM_021252.5" HGNC:14244 +HGNC:19982 RAB19 RAB19, member RAS oncogene family protein-coding gene gene with protein product Approved 7q34 07q34 RAB19B RAB, member RAS oncogene GTPases 388 2007-07-31 2016-04-25 401409 ENSG00000146955 OTTHUMG00000157410 uc010lni.2 NM_001008749 CCDS34762 A4D1S5 MGI:103292 RGD:1565263 HGNC:19982 "ENST00000537763.6|NM_001008749.3" +HGNC:18260 RAB20 RAB20, member RAS oncogene family protein-coding gene gene with protein product Approved 13q34 13q34 FLJ20429 RAB, member RAS oncogene GTPases 388 2002-02-19 2014-11-18 55647 ENSG00000139832 OTTHUMG00000017343 uc001vqy.4 AK000436 NM_017817 CCDS9512 Q9NX57 11697911 MGI:102789 RGD:1593487 HGNC:18260 "ENST00000267328.5|NM_017817.3" +HGNC:18263 RAB21 RAB21, member RAS oncogene family protein-coding gene gene with protein product Approved 12q21.1 12q21.1 KIAA0118 RAB, member RAS oncogene GTPases 388 2002-02-19 2014-09-04 23011 ENSG00000080371 OTTHUMG00000169572 uc001swt.4 AF091035 NM_014999 CCDS9003 Q9UL25 "10887961|11697911|16754960" MGI:894308 RGD:1303150 612398 HGNC:18263 "ENST00000261263.5|NM_014999.4" +HGNC:9764 RAB22A RAB22A, member RAS oncogene family protein-coding gene gene with protein product Approved 20q13.32 20q13.32 RAB, member RAS oncogene GTPases 388 2000-05-31 2016-10-05 57403 ENSG00000124209 OTTHUMG00000032844 uc002xyz.4 AF091034 NM_020673 CCDS33497 Q9UL26 MGI:105072 RGD:1311959 612966 HGNC:9764 "ENST00000244040.4|NM_020673.3" +HGNC:14263 RAB23 RAB23, member RAS oncogene family protein-coding gene gene with protein product Approved 6p12.1-p11.2 06p12.1-p11.2 RAB, member RAS oncogene GTPases 388 2000-12-18 2021-05-26 51715 ENSG00000112210 OTTHUMG00000014918 uc003pdt.5 AB034244 NM_001278666 CCDS4962 Q9ULC3 MGI:99833 RGD:1306867 606144 123373 HGNC:14263 "ENST00000468148.6|NM_016277.5" HGNC:14263 +HGNC:9765 RAB24 RAB24, member RAS oncogene family protein-coding gene gene with protein product Approved 5q35.3 05q35.3 RAB, member RAS oncogene GTPases 388 2000-05-31 2015-08-25 53917 ENSG00000169228 OTTHUMG00000130849 uc003mfv.5 AF087904 NM_130781 CCDS34300 Q969Q5 MGI:105065 RGD:1309112 612415 HGNC:9765 "ENST00000303251.11|NM_001031677.4" +HGNC:18238 RAB25 RAB25, member RAS oncogene family protein-coding gene gene with protein product Approved 1q22 01q22 CATX-8 RAB, member RAS oncogene GTPases 388 2002-02-18 2014-11-19 57111 ENSG00000132698 OTTHUMG00000017457 uc001fnc.4 AF083124 NM_020387 CCDS41413 P57735 11697911 MGI:1858203 RGD:1308447 612942 HGNC:18238 "ENST00000361084.10|NM_020387.4" +HGNC:14259 RAB26 RAB26, member RAS oncogene family protein-coding gene gene with protein product Approved 16p13.3 16p13.3 RAB, member RAS oncogene GTPases 388 2000-12-14 2015-09-02 25837 ENSG00000167964 OTTHUMG00000128829 uc002cou.4 AB027137 NM_001308053 "CCDS76806|CCDS10460" Q9ULW5 11043516 MGI:2443284 RGD:620890 605455 HGNC:14259 "ENST00000210187.11|NM_014353.5" +HGNC:9766 RAB27A RAB27A, member RAS oncogene family protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "RAB27|RAM|GS2|HsT18676" RAB, member RAS oncogene GTPases 388 1996-11-15 2021-05-26 5873 ENSG00000069974 OTTHUMG00000131959 uc002acr.4 U38654 "NM_004580|NM_183236" CCDS10153 P51159 7592656 MGI:1861441 RGD:620918 "RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)|http://structure.bmc.lu.se/idbase/RAB27Abase/|Mutations of the Small Nucleotide-binding Protein 27a Gene|http://www.retina-international.org/files/sci-news/rab27mut.htm|LRG_96|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_96.xml" 603868 118188 objectId:2916 HGNC:9766 "ENST00000336787.6|NM_183235.3" HGNC:9766 +HGNC:9767 RAB27B RAB27B, member RAS oncogene family protein-coding gene gene with protein product Approved 18q21.2 18q21.2 RAB, member RAS oncogene GTPases 388 1996-11-15 2015-08-25 5874 ENSG00000041353 OTTHUMG00000132710 uc002lfr.4 U57093 NM_004163 CCDS11958 O00194 9066979 MGI:1931295 RGD:620114 603869 HGNC:9767 "ENST00000262094.10|NM_004163.4" +HGNC:9768 RAB28 RAB28, member RAS oncogene family protein-coding gene gene with protein product Approved 4p15.33 04p15.33 RAB, member RAS oncogene GTPases 388 1999-03-24 2021-05-26 9364 ENSG00000157869 OTTHUMG00000090543 uc003gmt.3 X94703 NM_001017979 "CCDS54741|CCDS33961|CCDS3409" P51157 8647132 MGI:1917285 RGD:620891 612994 358558 HGNC:9768 "ENST00000330852.10|NM_001017979.3" HGNC:9768 +HGNC:50380 RAB28P1 RAB28, member RAS oncogene family pseudogene 1 pseudogene pseudogene Approved 9p12 09p12 2014-04-24 2014-04-24 100133203 ENSG00000226108 OTTHUMG00000067166 NG_011918 PGOHUM00000236489 HGNC:50380 +HGNC:50381 RAB28P2 RAB28, member RAS oncogene family pseudogene 2 pseudogene pseudogene Approved 9q13 09q13 2014-04-24 2015-03-04 100129331 ENSG00000236825 OTTHUMG00000013220 NG_011915 PGOHUM00000303861 HGNC:50381 +HGNC:50382 RAB28P3 RAB28, member RAS oncogene family pseudogene 3 pseudogene pseudogene Approved 9p11.1 09p11.1 2014-04-24 2016-10-05 100132772 ENSG00000227353 OTTHUMG00000013227 NG_011917 PGOHUM00000236106 HGNC:50382 +HGNC:51548 RAB28P4 RAB28, member RAS oncogene family pseudogene 4 pseudogene pseudogene Approved 9q21.11 09q21.11 2015-03-04 2015-03-04 100132871 ENSG00000276894 OTTHUMG00000188565 NG_011919 PGOHUM00000303916 HGNC:51548 +HGNC:51547 RAB28P5 RAB28, member RAS oncogene family pseudogene 5 pseudogene pseudogene Approved Xq26.3 Xq26.3 2015-03-04 2015-03-04 100128416 ENSG00000225400 OTTHUMG00000022516 NG_023397 PGOHUM00000305354 HGNC:51547 +HGNC:9789 RAB29 RAB29, member RAS oncogene family protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RAB7L|RAB7L1" RAB7, member RAS oncogene family-like 1 RAB, member RAS oncogene GTPases 388 1999-01-11 2014-04-25 2014-04-25 2016-10-05 8934 ENSG00000117280 OTTHUMG00000035998 D84488 NM_003929 "CCDS44302|CCDS44301|CCDS1459" O14966 "9284931|22022256" MGI:2385107 RGD:620892 603949 470944 HGNC:9789 "ENST00000367139.8|NM_003929.3" +HGNC:9770 RAB30 RAB30, member RAS oncogene family protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "RAB, member RAS oncogene GTPases|Small nucleolar RNA protein coding host genes" "388|1835" 2000-02-16 2015-02-02 27314 ENSG00000137502 OTTHUMG00000166973 uc001ozu.5 U57092 NM_014488 CCDS8264 Q15771 "8863739|9792283" MGI:1923235 RGD:1309507 605693 HGNC:9770 "ENST00000527633.6|NM_001286060.2" +HGNC:48672 RAB30-DT RAB30 divergent transcript non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 RAB30-AS1 RAB30 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-06-06 2019-02-28 2019-02-28 2019-02-28 100506233 ENSG00000246067 OTTHUMG00000167010 NR_038903 RAB30-AS1 HGNC:48672 +HGNC:9771 RAB31 RAB31, member RAS oncogene family protein-coding gene gene with protein product Approved 18p11.22 18p11.22 Rab22B RAB, member RAS oncogene GTPases 388 1999-08-20 2015-09-02 11031 ENSG00000168461 OTTHUMG00000178513 uc002kog.3 U59877 NM_006868 CCDS45826 Q13636 8863739 MGI:1914603 RGD:628598 605694 HGNC:9771 "ENST00000578921.6|NM_006868.4" +HGNC:9772 RAB32 RAB32, member RAS oncogene family protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "RAB, member RAS oncogene GTPases|A-kinase anchoring proteins" "388|396" 1999-08-12 2016-10-05 10981 ENSG00000118508 OTTHUMG00000015755 uc003qln.2 U71127 NM_006834 CCDS5210 Q13637 MGI:1915094 RGD:1559997 612906 HGNC:9772 "ENST00000367495.4|NM_006834.5" +HGNC:9773 RAB33A RAB33A, member RAS oncogene family protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 RabS10 RAB, member RAS oncogene GTPases 388 1999-03-24 2020-04-02 9363 ENSG00000134594 OTTHUMG00000022391 uc004evl.4 D14889 NM_004794 CCDS14621 Q14088 "7688322|9512502" MGI:109493 RGD:1563280 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAB33A 300333 HGNC:9773 "ENST00000257017.5|NM_004794.3" +HGNC:16075 RAB33B RAB33B, member RAS oncogene family protein-coding gene gene with protein product Approved 4q31.1 04q31.1 DKFZP434G099 RAB, member RAS oncogene GTPases 388 2001-09-14 2021-05-26 83452 ENSG00000172007 OTTHUMG00000133384 uc003ihv.4 AF350420 NM_031296 CCDS3747 Q9H082 MGI:1330805 RGD:1308353 605950 311424 HGNC:16075 "ENST00000305626.6|NM_031296.3" HGNC:16075 +HGNC:55153 RAB33B-AS1 RAB33B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.1 04q31.1 Antisense RNAs 1987 2020-07-15 2020-11-11 107984036 ENSG00000273247 NR_159963 +HGNC:16519 RAB34 RAB34, member RAS oncogene family protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "RAB39|RAH|NARR" nine-amino acid residue-repeats RAB, member RAS oncogene GTPases 388 2001-09-14 2020-04-20 83871 ENSG00000109113 OTTHUMG00000132680 uc002hch.3 AF322067 NM_031934 "CCDS82096|CCDS11240|CCDS58536|CCDS45636" "P0DI83|Q9BZG1" "12446704|21586586" MGI:104606 RGD:1305058 610917 HGNC:16519 "ENST00000395245.9|NM_031934.6" +HGNC:9774 RAB35 RAB35, member RAS oncogene family protein-coding gene gene with protein product Approved 12q24.23 12q24.23 H-ray RAB, member RAS oncogene GTPases 388 1999-09-29 2016-10-05 11021 ENSG00000111737 OTTHUMG00000169159 uc001txm.2 X79781 NM_001167606 "CCDS41846|CCDS53836" Q15286 MGI:1924657 RGD:1306362 604199 HGNC:9774 "ENST00000229340.10|NM_006861.7" +HGNC:9775 RAB36 RAB36, member RAS oncogene family protein-coding gene gene with protein product Approved 22q11.23 22q11.23 RAB, member RAS oncogene GTPases 388 1999-06-10 2016-10-05 9609 ENSG00000100228 OTTHUMG00000150601 uc002zwv.2 AB023061 NM_004914 CCDS13805 O95755 "9920784|10591208" MGI:1924127 RGD:1596098 605662 HGNC:9775 "ENST00000263116.8|NM_004914.5" +HGNC:30268 RAB37 RAB37, member RAS oncogene family protein-coding gene gene with protein product Approved 17q25.1 17q25.1 RAB, member RAS oncogene GTPases 388 2004-01-26 2016-10-05 326624 ENSG00000172794 OTTHUMG00000134282 uc010wrc.3 BC040547 NM_175738 "CCDS11703|CCDS32722|CCDS82198|CCDS54162" Q96AX2 10722846 MGI:1929945 RGD:2319982 609956 HGNC:30268 "ENST00000392613.10|NM_001006638.3" +HGNC:9776 RAB38 RAB38, member RAS oncogene family protein-coding gene gene with protein product Approved 11q14.2 11q14.2 NY-MEL-1 RAB, member RAS oncogene GTPases 388 1999-09-16 2016-10-05 23682 ENSG00000123892 OTTHUMG00000167288 uc001pcj.3 AF235022 NM_022337 CCDS8281 P57729 10910072 MGI:1919683 RGD:628752 606281 HGNC:9776 "ENST00000243662.11|NM_022337.3" +HGNC:16521 RAB39A RAB39A, member RAS oncogene family protein-coding gene gene with protein product Approved 11q22.3 11q22.3 rab-related GTP-binding protein RAB39 RAB39, member RAS oncogene family RAB, member RAS oncogene GTPases 388 2001-09-14 2011-11-22 2011-11-22 2014-11-19 54734 ENSG00000179331 OTTHUMG00000166367 uc001pjt.4 X99962 NM_017516 CCDS8338 Q14964 9119394 MGI:2442855 RGD:1311286 619558 HGNC:16521 "ENST00000320578.3|NM_017516.3" +HGNC:16499 RAB39B RAB39B, member RAS oncogene family protein-coding gene gene with protein product Approved Xq28 Xq28 "MRX72|WSN" "mental retardation, X-linked 72|Waisman syndrome" RAB, member RAS oncogene GTPases 388 2001-09-26 2021-05-26 116442 ENSG00000155961 OTTHUMG00000022659 uc004fne.5 AY052478 NM_171998 CCDS14766 Q96DA2 "12438742|20159109|25434005" MGI:1915040 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAB39B 300774 225332 HGNC:16499 "ENST00000369454.4|NM_171998.4" HGNC:16499 +HGNC:18283 RAB40A RAB40A, member RAS oncogene family protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "RAR2A|Rar-2" RAB, member RAS oncogene GTPases 388 2002-02-22 2020-04-02 142684 ENSG00000172476 OTTHUMG00000022100 uc004ekk.4 AF132748 NM_080879 CCDS35357 Q8WXH6 11697911 MGI:2183451 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAB40A 301065 HGNC:18283 "ENST00000304236.2|NM_080879.3" +HGNC:25410 RAB40AL RAB40A like protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "RAR2|RLGP" Ras like GTPase RAB40A, member RAS oncogene family-like 2005-04-11 2017-05-12 2020-04-20 282808 ENSG00000102128 OTTHUMG00000022084 uc004ejs.4 BC101169 NM_001031834 CCDS35353 P0C0E4 "22581972|25370018" MGI:2183451 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAB40AL 300405 470942 HGNC:25410 "ENST00000218249.7|NM_001031834.1" +HGNC:18284 RAB40B RAB40B, member RAS oncogene family protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "SEC4L|RAR" "RAB, member RAS oncogene GTPases|MicroRNA protein coding host genes" "388|1691" 2002-02-22 2015-08-25 10966 ENSG00000141542 OTTHUMG00000177806 uc002kft.4 U05227 NM_006822 CCDS11816 Q12829 11697911 MGI:2183451 RGD:1305663 619550 HGNC:18284 "ENST00000571995.6|NM_006822.3" +HGNC:18285 RAB40C RAB40C, member RAS oncogene family protein-coding gene gene with protein product Approved 16p13.3 16p13.3 RARL RASL8C RAS-like, family 8, member C RAB, member RAS oncogene GTPases 388 2002-02-22 2003-10-14 2015-09-02 57799 ENSG00000197562 OTTHUMG00000047854 uc021szt.2 Z84779 NM_021168 CCDS10413 Q96S21 "11697911|18485483" MGI:2183454 RGD:727914 619551 HGNC:18285 "ENST00000248139.8|NM_021168.5" +HGNC:18293 RAB41 RAB41, member RAS oncogene family protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 RAB41, member RAS homolog family RAB, member RAS oncogene GTPases 388 2002-02-27 2006-04-28 2020-04-02 347517 ENSG00000147127 OTTHUMG00000021772 uc010nkv.3 NM_001032726 "CCDS35322|CCDS87756" Q5JT25 11697911 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAB41 HGNC:18293 "ENST00000374473.6|NM_001363807.1" +HGNC:28702 RAB42 RAB42, member RAS oncogene family protein-coding gene gene with protein product Approved 1p35.3 01p35.3 MGC45806 RAB42, member RAS homolog family RAB, member RAS oncogene GTPases 388 2005-09-05 2006-04-28 2014-11-18 115273 ENSG00000188060 OTTHUMG00000003656 uc001bqu.4 BC033175 NM_152304 "CCDS85943|CCDS325" Q8N4Z0 MGI:2441753 RGD:1593983 HGNC:28702 "ENST00000465518.3|NM_001193532.3" +HGNC:19799 RAB42P1 RAB42, member RAS oncogene family, pseudogene 1 pseudogene pseudogene Approved 14q32.11 14q32.11 "RAB42|RAB42P" "RAB42, member RAS homolog family|RAB42, member RAS homolog family, pseudogene|RAB42, member RAS oncogene family, pseudogene" 2003-01-13 2010-03-04 2010-03-04 2012-11-02 646996 ENSG00000230997 OTTHUMG00000171015 NG_009574 HGNC:19799 +HGNC:19983 RAB43 RAB43, member RAS oncogene family protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "RAB41|RAB11B|ISY1" RAB, member RAS oncogene GTPases 388 2004-01-27 2020-04-20 339122 ENSG00000172780 OTTHUMG00000137364 uc021xds.1 AY166852 NM_198490 "CCDS33850|CCDS56275" Q86YS6 15018353 MGI:1917084 RGD:1565300 HGNC:19983 "ENST00000315150.10|NM_198490.3" +HGNC:33153 RAB43P1 RAB43 pseudogene 1 pseudogene pseudogene Approved 16q11.2 16q11.2 RAB41P RAB43P RAB43 pseudogene 2006-10-16 2010-03-04 2010-03-04 2012-11-02 440375 ENSG00000259856 OTTHUMG00000175598 NG_005358 15018353 PGOHUM00000259069 HGNC:33153 +HGNC:21068 RAB44 RAB44, member RAS oncogene family protein-coding gene gene with protein product Approved 6p21.2 06p21.2 dJ431A14.3 "RASD3|RASL13" RASD family, member 3 RAB, member RAS oncogene GTPases 388 2003-11-27 2004-07-01 2004-02-03 2020-04-20 401258 ENSG00000255587 OTTHUMG00000016308 uc010jwm.2 NM_001257357 CCDS75442 Q7Z6P3 MGI:3045302 RGD:1560150 HGNC:21068 "ENST00000612677.6|NM_001257357.2" +HGNC:9794 RABAC1 Rab acceptor 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PRA1|PRAF1|YIP3" "PRA1 domain family 1|prenylated Rab acceptor 1" Rab acceptor 1 (prenylated) YIP family 1144 2000-06-16 2016-03-14 2016-03-14 10567 ENSG00000105404 OTTHUMG00000182737 uc002osf.4 AJ133534 NM_006423 CCDS12593 Q9UI14 "10329441|10751420" MGI:1201692 RGD:621002 604925 HGNC:9794 "ENST00000222008.11|NM_006423.3" +HGNC:17677 RABEP1 rabaptin, RAB GTPase binding effector protein 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "neurocrescin|RAB5EP|RABPT5|rabaptin-5" 2003-07-14 2020-04-01 9135 ENSG00000029725 OTTHUMG00000177870 uc032ery.2 AF098638 NM_004703 "CCDS42243|CCDS45592" Q15276 8521472 MGI:1860236 RGD:708568 RABEP1 603616 HGNC:17677 "ENST00000537505.6|NM_004703.6" +HGNC:24817 RABEP2 rabaptin, RAB GTPase binding effector protein 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FRA|FLJ23282" Rabaptin-5beta 2004-05-26 2015-04-07 79874 ENSG00000177548 OTTHUMG00000176593 uc002drq.4 AK026935 NM_024816 CCDS42140 Q9H5N1 9524116 MGI:1917564 RGD:621416 611869 HGNC:24817 "ENST00000358201.9|NM_024816.3" +HGNC:16896 RABEPK Rab9 effector protein with kelch motifs protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "RAB9P40|bA65N13.1" 2005-06-24 2016-10-05 10244 ENSG00000136933 OTTHUMG00000020674 uc004bpi.4 BC000503 NM_005833 "CCDS6862|CCDS55341" Q7Z6M1 9230071 MGI:2139530 RGD:1310612 605962 HGNC:16896 "ENST00000373538.8|NM_005833.4" +HGNC:39791 RABEPKP1 Rab9 effector protein with kelch motifs pseudogene 1 pseudogene pseudogene Approved 13q21.33 13q21.33 2011-03-29 2011-03-29 100421226 ENSG00000225801 OTTHUMG00000017060 NG_024937 PGOHUM00000248626 HGNC:39791 +HGNC:17155 RABGAP1 RAB GTPase activating protein 1 protein-coding gene gene with protein product Approved 9q33.2-q33.3 09q33.2-q33.3 "GAPCenA|TBC1D11" "rab6 GTPase activating protein (GAP and centrosome-associated)|TBC1 domain family, member 11" 2004-01-12 2018-02-13 23637 ENSG00000011454 OTTHUMG00000020633 uc011lzh.3 AJ011679 NM_012197 CCDS6848 Q9Y3P9 10202141 MGI:2385139 RGD:1304691 615882 HGNC:17155 "ENST00000373647.9|NM_012197.4" +HGNC:24663 RABGAP1L RAB GTPase activating protein 1 like protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "HHL|TBC1D18|KIAA0471|FLJ38519" 2004-08-20 2016-06-28 2016-10-05 9910 ENSG00000152061 OTTHUMG00000034899 uc001gjx.4 AF279778 NM_001243765 "CCDS41437|CCDS58046|CCDS1314|CCDS55662|CCDS81407" "B7ZAP0|Q5R372" 10585558 MGI:1352507 RGD:1304620 609238 470946 HGNC:24663 "ENST00000681986.1|NM_001366446.1" +HGNC:41057 RABGAP1L-AS1 RABGAP1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 Antisense RNAs 1987 2020-03-19 2020-03-19 101928696 ENSG00000229531 OTTHUMG00000034940 NR_121196 +HGNC:54296 RABGAP1L-DT RABGAP1L divergent transcript non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 Divergent transcripts 1990 2019-05-02 2019-05-02 102724601 ENSG00000227373 NR_121197 HGNC:54296 +HGNC:41471 RABGAP1L-IT1 RABGAP1L intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 RABGAP1L intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 106480742 ENSG00000223525 OTTHUMG00000034938 uc057nls.1 RABGAP1L-IT1 +HGNC:17676 RABGEF1 RAB guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "rabex-5|RABEX5" RAB guanine nucleotide exchange factor (GEF) 1 VPS9 domain containing 928 2003-07-14 2016-03-15 2016-03-15 27342 ENSG00000154710 OTTHUMG00000129547 uc003tvh.4 AJ250042 NM_014504 "CCDS69308|CCDS75610|CCDS5535" Q9UJ41 "12505986|11098082" MGI:1929459 RGD:1307295 609700 HGNC:17676 "ENST00000284957.9|NM_014504.3" +HGNC:55751 RABGEF1P1 RABGEF1 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2021-07-20 2021-07-20 493754 ENSG00000229180 NR_111972 +HGNC:55752 RABGEF1P2 RABGEF1 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 2021-07-20 2021-07-20 122149301 ENSG00000230189 +HGNC:55753 RABGEF1P3 RABGEF1 pseudogene 3 pseudogene pseudogene Approved 7q11.23 07q11.23 2021-07-20 2021-07-20 122149305 ENSG00000224273 +HGNC:9795 RABGGTA Rab geranylgeranyltransferase subunit alpha protein-coding gene gene with protein product Approved 14q12 14q12 PTAR3 protein prenyltransferase alpha subunit repeat containing 3 Prenyltransferase alpha subunit repeat containing 687 1996-08-14 2018-04-23 2019-08-21 5875 ENSG00000100949 OTTHUMG00000171838 uc001wog.5 NM_182836 CCDS45088 Q92696 8954794 MGI:1860443 RGD:621697 601905 HGNC:9795 "ENST00000216840.11|NM_182836.3" +HGNC:9796 RABGGTB Rab geranylgeranyltransferase subunit beta protein-coding gene gene with protein product Approved 1p31.1 01p31.1 Small nucleolar RNA protein coding host genes 1835 1996-08-14 2018-04-23 2018-04-23 5876 ENSG00000137955 OTTHUMG00000009786 uc001dgy.3 U49245 NM_004582 CCDS669 P53611 "8706741|8954794" MGI:99537 RGD:3530 179080 HGNC:9796 "ENST00000319942.8|NM_004582.4" +HGNC:9797 RABIF RAB interacting factor protein-coding gene gene with protein product Approved 1q32.1 01q32.1 mss4 RASGRF3 1998-05-14 2015-08-25 5877 ENSG00000183155 OTTHUMG00000041400 uc001gyl.4 S78873 NM_002871 CCDS1428 P47224 "9441742|7619808" MGI:2138605 RGD:1359331 603417 HGNC:9797 "ENST00000367262.4|NM_002871.5" +HGNC:9799 RABL2A RAB, member of RAS oncogene family like 2A protein-coding gene gene with protein product Approved 2q14.1 02q14.1 RAB like GTPases 394 1998-09-29 2017-02-21 2017-02-21 11159 ENSG00000144134 OTTHUMG00000047828 uc010flb.4 NM_001306158 "CCDS77455|CCDS77454|CCDS2118|CCDS77456" Q9UBK7 10444334 MGI:1915958 605412 HGNC:9799 "ENST00000683472.1|NM_001306158.2" +HGNC:9800 RABL2B RAB, member of RAS oncogene family like 2B protein-coding gene gene with protein product Approved 22q13.33 22q13.33 RAB like GTPases 394 1998-09-29 2017-02-21 2017-02-21 11158 ENSG00000079974 OTTHUMG00000150156 uc062fos.1 NM_001003789 "CCDS33683|CCDS14102|CCDS46738" Q9UNT1 10444334 MGI:1915958 RGD:1306749 605413 HGNC:9800 "ENST00000691320.1|NM_001130919.3" +HGNC:18072 RABL3 RAB, member of RAS oncogene family like 3 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 MGC23920 RAB, member of RAS oncogene family-like 3 RAB like GTPases 394 2002-02-18 2016-04-04 2019-03-19 285282 ENSG00000144840 OTTHUMG00000159668 uc003edx.3 BC020832 NM_173825 "CCDS87127|CCDS3001" Q5HYI8 20596630 MGI:1914907 RGD:1306436 618542 HGNC:18072 "ENST00000273375.8|NM_173825.5" HGNC:18072 +HGNC:24703 RABL6 RAB, member RAS oncogene family like 6 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "FLJ10101|FLJ13045|pp8875|bA216L13.9|Parf|RBEL1" "Rab-like protein 1|partner of ARF" C9orf86 chromosome 9 open reading frame 86 "RAB like GTPases|MicroRNA protein coding host genes" "394|1691" 2004-02-19 2012-06-28 2017-02-21 2017-02-21 55684 ENSG00000196642 OTTHUMG00000020947 uc004cji.2 AK094382 NM_024718 "CCDS48058|CCDS55352|CCDS55353" Q3YEC7 "14702039|16582619|17962191|19433581" MGI:2442633 RGD:1307615 610615 HGNC:24703 "ENST00000311502.12|NM_024718.5" +HGNC:9801 RAC1 Rac family small GTPase 1 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "TC-25|p21-Rac1|Rac-1" ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) "Rho family GTPases|Receptor ligands" "390|542" 1993-11-05 2017-08-08 2021-05-26 5879 ENSG00000136238 OTTHUMG00000023540 uc003spx.4 AJ132695 NM_018890 "CCDS5348|CCDS5349" P63000 "2674130|10597294" MGI:97845 RGD:619755 RAC1 602048 470948 ligandId:5250 HGNC:9801 "ENST00000348035.9|NM_006908.5" HGNC:9801 +HGNC:31001 RAC1P1 Rac family small GTPase 1 pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 HsT2789 ras-related C3 botulinum toxin substrate 1 pseudogene 1 2004-01-05 2017-08-08 2017-10-30 387612 ENSG00000266520 OTTHUMG00000179504 NG_005321 PGOHUM00000294629 HGNC:31001 +HGNC:31414 RAC1P2 Rac family small GTPase 1 pseudogene 2 pseudogene pseudogene Approved 4p12 04p12 Psi2Rac1 ras-related C3 botulinum toxin substrate 1 pseudogene 2 2004-04-15 2017-08-08 2017-08-08 442775 ENSG00000249936 OTTHUMG00000160545 NG_005326 15474301 PGOHUM00000245512 HGNC:31414 +HGNC:31833 RAC1P3 Rac family small GTPase 1 pseudogene 3 pseudogene pseudogene Approved 13q14.11 13q14.11 Psi3Rac1 ras-related C3 botulinum toxin substrate 1 pseudogene 3 2004-11-05 2017-08-08 2017-08-08 492295 ENSG00000231404 OTTHUMG00000016788 NG_004753 15474301 PGOHUM00000248381 HGNC:31833 +HGNC:31113 RAC1P4 Rac family small GTPase 1 pseudogene 4 pseudogene pseudogene Approved Xq26.3 Xq26.3 Psi4Rac1 RAC4 "ras-related C3 botulinum toxin substrate family member 4|ras-related C3 botulinum toxin substrate 1 pseudogene 4" 2004-02-17 2004-10-15 2017-08-08 2017-08-08 286472 ENSG00000237584 OTTHUMG00000022523 XM_210062 15474301 PGOHUM00000241574 HGNC:31113 +HGNC:30593 RAC1P5 Rac family small GTPase 1 pseudogene 5 pseudogene pseudogene Approved 4q25 04q25 Psi1Rac1 ras-related C3 botulinum toxin substrate 1 pseudogene 5 2004-11-05 2017-08-08 2017-08-08 402183 ENSG00000213522 OTTHUMG00000161008 AF542527 NG_005324 15474301 PGOHUM00000245647 HGNC:30593 +HGNC:42006 RAC1P6 Rac family small GTPase 1 pseudogene 6 pseudogene pseudogene Approved 7q31.2 07q31.2 ras-related C3 botulinum toxin substrate 1 pseudogene 6 2011-05-31 2017-08-08 2017-08-08 100422657 ENSG00000226962 OTTHUMG00000065374 NG_026506 PGOHUM00000232968 HGNC:42006 +HGNC:42007 RAC1P7 Rac family small GTPase 1 pseudogene 7 pseudogene pseudogene Approved 1q42.2 01q42.2 ras-related C3 botulinum toxin substrate 1 pseudogene 7 2011-05-31 2017-08-08 2017-08-08 100874390 ENSG00000236101 OTTHUMG00000057831 NG_032389 PGOHUM00000244483 HGNC:42007 +HGNC:42005 RAC1P8 Rac family small GTPase 1 pseudogene 8 pseudogene pseudogene Approved 13q21.31 13q21.31 ras-related C3 botulinum toxin substrate 1 pseudogene 8 2011-05-31 2017-08-08 2017-08-08 100874398 ENSG00000234033 OTTHUMG00000017013 NG_032388 HGNC:42005 +HGNC:50774 RAC1P9 Rac family small GTPase 1 pseudogene 9 pseudogene pseudogene Approved 7p12.1 07p12.1 ras-related C3 botulinum toxin substrate 1 pseudogene 9 2014-06-18 2017-08-08 2017-08-08 100422658 ENSG00000271306 OTTHUMG00000184468 NG_026567 PGOHUM00000233232 HGNC:50774 +HGNC:9802 RAC2 Rac family small GTPase 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 EN-7 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) "Rho family GTPases|Receptor ligands" "390|542" 1993-11-05 2017-08-08 2021-05-26 5880 ENSG00000128340 OTTHUMG00000150540 uc003arc.5 M64595 NM_002872 CCDS13945 P15153 2674130 MGI:97846 RGD:1307568 "RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome|http://structure.bmc.lu.se/idbase/RAC2base/|LRG_97|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_97.xml" 602049 204411 ligandId:5251 HGNC:9802 "ENST00000249071.11|NM_002872.5" HGNC:9802 +HGNC:9803 RAC3 Rac family small GTPase 3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) "Rho family GTPases|Receptor ligands" "390|542" 1997-07-11 2017-08-08 2021-05-26 5881 ENSG00000169750 OTTHUMG00000178455 uc002kdf.4 AF008591 NM_001316307 CCDS11798 P60763 MGI:2180784 RGD:1590052 602050 ligandId:5252 HGNC:9803 "ENST00000306897.9|NM_005052.3" HGNC:9803 +HGNC:9804 RACGAP1 Rac GTPase activating protein 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "MgcRacGAP|CYK4" 1999-09-09 2022-03-08 29127 ENSG00000161800 OTTHUMG00000169811 uc001rvu.3 NM_013277 CCDS8795 Q9H0H5 9497316 MGI:1349423 RGD:1305912 604980 HGNC:9804 "ENST00000312377.10|NM_001319999.2" +HGNC:24689 RACGAP1P1 Rac GTPase activating protein 1 pseudogene 1 pseudogene pseudogene Approved 12q12 12q12 FKSG42 RACGAP1P Rac GTPase activating protein 1 pseudogene 2006-01-06 2020-04-06 2020-04-06 2020-04-06 83956 ENSG00000257331 OTTHUMG00000169561 AF334184 NR_026583 PGOHUM00000239430 HGNC:24689 +HGNC:4399 RACK1 receptor for activated C kinase 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "Gnb2-rs1|H12.3" GNB2L1 guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 "WD repeat domain containing|SSU processome|Small nucleolar RNA protein coding host genes" "362|1484|1835" 1999-10-19 2016-01-22 2016-01-22 2019-02-01 10399 ENSG00000204628 OTTHUMG00000163380 uc003mni.2 M24194 NM_006098 CCDS34324 P63244 "8302854|27530427|27325703" MGI:101849 RGD:69229 176981 HGNC:4399 "ENST00000512805.6|NM_006098.5" HGNC:4399 +HGNC:55463 RACK1P1 RACK1 pseudogene 1 pseudogene pseudogene Approved 5q21.3 05q21.3 2021-03-03 2021-03-03 100422561 ENSG00000249921 NG_024708 PGOHUM00000301087 +HGNC:55464 RACK1P2 RACK1 pseudogene 2 pseudogene pseudogene Approved 2p22.2 02p22.2 2021-03-03 2021-03-03 100422559 ENSG00000270677 NG_023556 PGOHUM00000297836 +HGNC:55465 RACK1P3 RACK1 pseudogene 3 pseudogene pseudogene Approved 4q22.2 04q22.2 2021-03-03 2021-03-03 100422562 ENSG00000249239 NG_025141 PGOHUM00000299924 +HGNC:9806 RAD1 RAD1 checkpoint DNA exonuclease protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "HRAD1|REC1" "exonuclease homolog RAD1|checkpoint control protein HRAD1|cell cycle checkpoint protein Hrad1|Rad1-like DNA damage checkpoint|DNA repair exonuclease REC1|RAD1 checkpoint clamp component" "RAD1 (S. pombe) homolog|RAD1 homolog (S. pombe)" Checkpoint clamp complex 1339 1998-07-31 2014-08-08 2016-10-05 5810 ENSG00000113456 OTTHUMG00000090783 uc003jix.4 AF074717 NM_002853 CCDS3905 O60671 "9716408|9828137" MGI:1316678 RGD:1306496 603153 3.1.11.2 HGNC:9806 "ENST00000382038.7|NM_002853.4" +HGNC:49479 RAD1P1 RAD1 pseudogene 1 pseudogene pseudogene Approved 10q26.11 10q26.11 RAD1 homolog pseudogene 1 2013-12-20 2014-08-08 2014-08-08 100128880 ENSG00000234569 OTTHUMG00000019152 NG_022192 PGOHUM00000238938 HGNC:49479 +HGNC:49480 RAD1P2 RAD1 pseudogene 2 pseudogene pseudogene Approved 1q23.1 01q23.1 RAD1 homolog pseudogene 2 2013-12-20 2014-08-08 2014-08-08 100129690 ENSG00000233473 OTTHUMG00000037180 NG_022741 PGOHUM00000244302 HGNC:49480 +HGNC:9827 RAD9A RAD9 checkpoint clamp component A protein-coding gene gene with protein product Approved 11q13.2 11q13.2 RAD9 "RAD9 (S. pombe) homolog|RAD9 homolog A (S. pombe)" Checkpoint clamp complex 1339 1997-02-03 2003-07-23 2015-06-22 2016-10-05 5883 ENSG00000172613 OTTHUMG00000167670 uc001okr.4 U53174 NM_004584 CCDS8159 Q99638 "8943031|20081369" MGI:1328356 RGD:2319938 603761 HGNC:9827 "ENST00000307980.7|NM_004584.3" +HGNC:21700 RAD9B RAD9 checkpoint clamp component B protein-coding gene gene with protein product Approved 12q24.11 12q24.11 FLJ40346 RAD9 homolog B (S. pombe) 2003-07-21 2015-06-22 2016-10-05 144715 ENSG00000151164 OTTHUMG00000152952 uc001trf.5 NM_152442 "CCDS73526|CCDS73527|CCDS9148|CCDS66469" Q6WBX8 "14611806|24013428" MGI:2385231 RGD:1308223 608368 HGNC:21700 "ENST00000409300.6|NM_001286535.2" +HGNC:9807 RAD17 RAD17 checkpoint clamp loader component protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "Rad24|RAD17Sp|CCYC" "RAD1 (S. pombe) homolog|RAD17 homolog (S. pombe)" 1998-07-31 2015-06-22 2016-10-05 5884 ENSG00000152942 OTTHUMG00000099357 uc003jwo.5 AF085736 NM_133344 "CCDS4004|CCDS4005|CCDS47226|CCDS4003" O75943 "9869296|9660800" MGI:1333807 RGD:1309515 603139 HGNC:9807 "ENST00000354868.10|NM_133338.3" +HGNC:9808 RAD17P1 RAD17 pseudogene 1 pseudogene pseudogene Approved 7p21.1 07p21.1 HRAD17P1 "RAD17 (S. pombe) homolog, pseudogene 1|RAD17 homolog (S. pombe) pseudogene 1" 1999-02-15 2019-01-21 2019-01-21 9207 ENSG00000232400 OTTHUMG00000152462 AJ131309 NG_002929 PGOHUM00000232602 HGNC:9808 +HGNC:9809 RAD17P2 RAD17 pseudogene 2 pseudogene pseudogene Approved 13q14.2 13q14.2 HRAD17P2 "RAD17 (S. pombe) homolog, pseudogene 2|RAD17 homolog (S. pombe) pseudogene 2" 1999-02-15 2019-01-21 2019-01-21 9206 ENSG00000223724 OTTHUMG00000016908 AJ131310 NG_002928 9660800 PGOHUM00000248396 HGNC:9809 +HGNC:18278 RAD18 RAD18 E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 3p25.3 03p25.3 RNF73 RAD18 homolog (S. cerevisiae) Ring finger proteins 58 2003-07-01 2019-01-21 2019-01-21 56852 ENSG00000070950 OTTHUMG00000090545 uc003brd.4 NM_020165 CCDS2571 Q9NS91 "10884424|10908344" MGI:1890476 RGD:1306993 605256 HGNC:18278 "ENST00000264926.7|NM_020165.4" +HGNC:9811 RAD21 RAD21 cohesin complex component protein-coding gene gene with protein product Approved 8q24.11 08q24.11 "KIAA0078|hHR21|SCC1" "sister chromatid cohesion 1|kleisin" "RAD21 (S. pombe) homolog|RAD21 homolog (S. pombe)" "Cohesin complex|Kleisins|MicroRNA protein coding host genes" "1060|1451|1691" 1996-06-12 2015-06-22 2021-05-26 5885 ENSG00000164754 OTTHUMG00000164959 uc003yod.4 BC050381 NM_006265 CCDS6321 O60216 8812457 MGI:108016 RGD:1594529 LRG_772|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_772.xml RAD21 606462 304234 HGNC:9811 "ENST00000297338.7|NM_006265.3" HGNC:9811 +HGNC:32158 RAD21-AS1 RAD21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.11 08q24.11 "C8orf81|NCRNA00255" "chromosome 8 open reading frame 81|non-protein coding RNA 255|RAD21 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2007-08-21 2011-08-11 2012-08-15 2012-10-12 644660 ENSG00000253327 OTTHUMG00000164960 uc003yoe.4 BC031280 XR_040079 RAD21-AS1 HGNC:32158 +HGNC:16271 RAD21L1 RAD21 cohesin complex component like 1 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ545L17.2|RAD21L" RAD21-like 1 (S. pombe) Kleisins 1451 2002-02-05 2015-06-22 2020-04-20 642636 ENSG00000244588 OTTHUMG00000031664 uc010gab.1 AL031665 NM_001136566 CCDS46568 Q9H4I0 21527826 MGI:3652039 RGD:1587557 619533 HGNC:16271 "ENST00000683101.1|NM_001384355.1" +HGNC:55032 RAD21P1 RAD21 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-05-28 2020-05-28 392508 ENSG00000238116 NG_022682 +HGNC:9812 RAD23A RAD23 homolog A, nucleotide excision repair protein protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "HHR23A|MGC111083" RAD23, yeast homolog, A "RAD23 (S. cerevisiae) homolog A|RAD23 homolog A (S. cerevisiae)" Nucleotide excision repair 1269 1994-07-20 2015-07-09 2016-10-05 5886 ENSG00000179262 OTTHUMG00000180723 uc002mvw.3 NM_005053 "CCDS59357|CCDS12289|CCDS59358" P54725 "7851894|21676658" MGI:105126 RGD:1309899 600061 HGNC:9812 "ENST00000586534.6|NM_005053.4" +HGNC:9813 RAD23B RAD23 homolog B, nucleotide excision repair protein protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "HHR23B|P58|HR23B" "XP-C repair complementing protein|XP-C repair complementing complex 58 kDa" "RAD23 (S. cerevisiae) homolog B|RAD23 homolog B (S. cerevisiae)" Nucleotide excision repair 1269 1994-07-20 2015-07-09 2015-07-09 5887 ENSG00000119318 OTTHUMG00000020446 uc004bde.4 NM_002874 "CCDS6769|CCDS59138" P54727 "7851894|8168482" MGI:105128 RGD:1562958 600062 HGNC:9813 "ENST00000358015.8|NM_002874.5" +HGNC:44509 RAD23BP1 RAD23B pseudogene 1 pseudogene pseudogene Approved 3p24.3 03p24.3 "RAD23 homolog B (S. cerevisiae) pseudogene 1|RAD23 homolog B, nucleotide excision repair protein pseudogene 1" 2012-11-13 2019-01-21 2019-01-21 131185 ENSG00000236570 OTTHUMG00000155345 NG_022240 PGOHUM00000299362 HGNC:44509 +HGNC:44510 RAD23BP2 RAD23B pseudogene 2 pseudogene pseudogene Approved 7q21.11 07q21.11 "RAD23 homolog B (S. cerevisiae) pseudogene 2|RAD23 homolog B, nucleotide excision repair protein pseudogene 2" 2012-11-13 2019-01-21 2019-01-21 100130572 ENSG00000230244 OTTHUMG00000154684 NG_022568 PGOHUM00000302835 HGNC:44510 +HGNC:9814 RAD23BP3 RAD23B pseudogene 3 pseudogene pseudogene Approved 21q21.1 21q21.1 RAD23BLP "RAD23 (S. cerevisiae) homolog B-like pseudogene|RAD23 homolog B (S. cerevisiae)-like pseudogene|RAD23 homolog B-like (S. cerevisiae) pseudogene" 2000-05-23 2017-05-12 2019-01-21 2019-01-21 54034 ENSG00000226298 OTTHUMG00000074344 NG_032020 HGNC:9814 +HGNC:9816 RAD50 RAD50 double strand break repair protein protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "hRad50|RAD50-2" "RAD50 (S. cerevisiae) homolog|RAD50 homolog (S. cerevisiae)|RAD50 homolog, double strand break repair protein" "BRCA1 C complex|MRN complex" "1336|1344" 1999-07-23 2016-01-27 2021-05-26 10111 ENSG00000113522 OTTHUMG00000059613 uc003kxi.4 Z75311 NM_005732 CCDS34233 Q92878 "8756642|9705271" MGI:109292 RGD:621542 LRG_312|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_312.xml 604040 242004 HGNC:9816 "ENST00000378823.8|NM_005732.4" HGNC:9816 +HGNC:9817 RAD51 RAD51 recombinase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "HsRad51|HsT16930|BRCC5|FANCR" BRCA1/BRCA2-containing complex, subunit 5 "RAD51A|RECA" "RAD51 (S. cerevisiae) homolog (E coli RecA homolog)|RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)|RAD51 homolog (S. cerevisiae)" FA complementation groups 548 1993-05-26 2013-07-02 2021-04-13 5888 ENSG00000051180 OTTHUMG00000130067 uc001zmi.5 D13804 "NM_002875|NM_133487" "CCDS10062|CCDS53932|CCDS53931" Q06609 "8358431|8479919|26253028" MGI:97890 RGD:1563603 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_313|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_313.xml" 179617 118208 HGNC:9817 "ENST00000267868.8|NM_002875.5" HGNC:9817 +HGNC:48621 RAD51-AS1 RAD51 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 TODRA transcribed in the opposite direction of RAD51 RAD51 antisense RNA 1 (head to head) Antisense RNAs 1987 2013-05-24 2018-06-14 2018-06-14 100505648 ENSG00000245849 OTTHUMG00000166119 AK125393 NR_040058 26230935 RAD51-AS1 HGNC:48621 +HGNC:16956 RAD51AP1 RAD51 associated protein 1 protein-coding gene gene with protein product Approved 12p13.32 12p13.32 PIR51 2004-09-16 2016-10-05 10635 ENSG00000111247 OTTHUMG00000168125 uc001qmu.4 AF006259 NM_006479 "CCDS8529|CCDS44805" Q96B01 9396801 MGI:1098224 RGD:1597431 603070 HGNC:16956 "ENST00000352618.9|NM_006479.5" +HGNC:49646 RAD51AP1P1 RAD51AP1 pseudogene 1 pseudogene pseudogene Approved 3q22.3 03q22.3 2014-01-28 2019-01-21 2019-01-21 100420047 ENSG00000214283 OTTHUMG00000159774 NG_025631 PGOHUM00000237784 HGNC:49646 +HGNC:34417 RAD51AP2 RAD51 associated protein 2 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 FLJ17540 2009-01-13 2015-08-25 729475 ENSG00000214842 OTTHUMG00000151761 uc002rcl.2 AK310498 NM_001099218 CCDS42656 Q09MP3 16990250 MGI:3644580 RGD:2322652 HGNC:34417 "ENST00000399080.3|NM_001099218.3" +HGNC:9822 RAD51B RAD51 paralog B protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "REC2|hREC2|R51H2" RAD51L1 "RAD51 (S. cerevisiae)-like 1|RAD51-like 1 (S. cerevisiae)|RAD51 homolog B (S. cerevisiae)" 1997-09-12 2011-07-01 2013-07-02 2016-10-05 5890 ENSG00000182185 OTTHUMG00000157530 uc001xkd.4 U84138 NM_001321809 "CCDS81815|CCDS9790|CCDS9789" O15315 "6261043|9207106" MGI:1099436 RGD:1560681 RAD51B 602948 470952 HGNC:9822 "ENST00000471583.6|NM_133510.4" +HGNC:9820 RAD51C RAD51 paralog C protein-coding gene gene with protein product Approved 17q22 17q22 "RAD51L2|FANCO" "RAD51 (S. cerevisiae) homolog C|RAD51 homolog C (S. cerevisiae)" FA complementation groups 548 1998-02-26 2013-07-02 2021-04-13 5889 ENSG00000108384 OTTHUMG00000141292 uc002iwu.5 AF029670 NM_058216 "CCDS45745|CCDS11611" O43502 "9469824|22167183" MGI:2150020 RGD:1563765 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_314|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_314.xml" 602774 229784 HGNC:9820 "ENST00000337432.9|NM_058216.3" HGNC:9820 +HGNC:9823 RAD51D RAD51 paralog D protein-coding gene gene with protein product Approved 17q12 17q12 "R51H3|Trad|HsTRAD" "recombination repair protein|DNA repair protein RAD51 homolog 4" RAD51L3 "RAD51 (S. cerevisiae)-like 3|RAD51-like 3 (S. cerevisiae)|RAD51 homolog D (S. cerevisiae)" 1998-05-27 2011-07-01 2013-07-02 2021-04-13 5892 ENSG00000185379 OTTHUMG00000132930 uc002hir.4 AF034956 NM_002878 "CCDS11287|CCDS45646|CCDS11288" O75771 9570954 MGI:1261809 RGD:1306944 LRG_516|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_516.xml 602954 297209 HGNC:9823 "ENST00000345365.11|NM_002878.4" HGNC:9823 +HGNC:9824 RAD52 RAD52 homolog, DNA repair protein protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "RAD52 (S. cerevisiae) homolog|RAD52 homolog (S. cerevisiae)" 1995-03-28 2015-07-10 2016-10-05 5893 ENSG00000002016 OTTHUMG00000090361 uc001qiu.2 NM_134424 "CCDS76501|CCDS8507|CCDS76500" P43351 "7774919|18313388|19506022|24340529" MGI:101949 RGD:1304975 600392 HGNC:9824 "ENST00000358495.8|NM_134424.4" +HGNC:54559 RAD52P1 RAD52 pseudogene 1 pseudogene pseudogene Approved 2q31.2 02q31.2 2019-10-16 2019-10-16 644776 ENSG00000237964 NG_021540 +HGNC:17228 RAD54B RAD54 homolog B protein-coding gene gene with protein product Approved 8q22.1 08q22.1 RDH54 RAD54 homolog B (S. cerevisiae) 2004-01-22 2018-01-31 2018-01-31 25788 ENSG00000197275 OTTHUMG00000133658 uc003ygk.4 AF112481 NM_012415 "CCDS6262|CCDS75768|CCDS56546" Q9Y620 "10362364|10851248" MGI:3605986 RGD:1306507 604289 HGNC:17228 "ENST00000336148.10|NM_012415.3" +HGNC:9826 RAD54L RAD54 like protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "hHR54|hRAD54|RAD54A" "RAD54 (S.cerevisiae)-like|RAD54 like (S. cerevisiae)" 1998-11-04 2017-08-08 2021-04-13 8438 ENSG00000085999 OTTHUMG00000007772 uc009vye.2 X97795 NM_003579 CCDS532 Q92698 8805304 MGI:894697 RGD:1310600 LRG_1414|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1414.xml 603615 437664 HGNC:9826 "ENST00000371975.9|NM_003579.4" +HGNC:29123 RAD54L2 RAD54 like 2 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "KIAA0809|SRISNF2L|ARIP4" AR interacting protein 4 RAD54 like 2 (S. cerevisiae) 2006-01-17 2017-08-08 2018-09-11 23132 ENSG00000164080 OTTHUMG00000152936 uc011bdt.3 AB018352 NM_015106 CCDS33765 Q9Y4B4 19692572 MGI:1933196 RGD:1561889 HGNC:29123 "ENST00000684192.1|NM_015106.4" +HGNC:54570 RAD54L2P1 RAD54L2 pseudogene 1 pseudogene pseudogene Approved 19p12 19p12 2019-10-16 2019-10-16 100420273 ENSG00000269316 OTTHUMG00000182984 NG_024249 PGOHUM00000295300 +HGNC:22226 RADIL Rap associating with DIL domain protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "FLJ10324|KIAA1849|RASIP2" Ras association and DIL domains PDZ domain containing 1220 2009-01-27 2016-03-15 2016-03-15 55698 ENSG00000157927 OTTHUMG00000151753 uc003snj.2 AB058752 NM_018059 CCDS43544 Q96JH8 "16051602|17704304" MGI:2443088 RGD:1306155 611491 HGNC:22226 "ENST00000399583.4|NM_018059.5" +HGNC:25486 RADX RPA1 related single stranded DNA binding protein, X-linked protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "FLJ14191|FLJ10178" CXorf57 chromosome X open reading frame 57 MicroRNA protein coding host genes 1691 2006-07-10 2018-09-03 2018-09-03 2020-04-02 55086 ENSG00000147231 OTTHUMG00000022150 uc004emi.5 AK024253 NM_018015 "CCDS55470|CCDS14519" Q6NSI4 "28735897|29021206" MGI:2147848 RGD:1589413 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf57 HGNC:25486 "ENST00000372548.9|NM_018015.6" +HGNC:9828 RAE1 ribonucleic acid export 1 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "Mnrp41|Gle2" "RAE1 (RNA export 1, S.pombe) homolog|RAE1 RNA export 1 homolog (S. pombe)" "WD repeat domain containing|Nucleoporins" "362|1051" 1999-07-23 2013-08-28 2019-03-07 8480 ENSG00000101146 OTTHUMG00000032819 uc002xyg.4 U84720 NM_001015885 CCDS13458 P78406 "9370289|9256445" MGI:1913929 RGD:1311540 603343 HGNC:9828 "ENST00000395841.7|NM_003610.4" +HGNC:16793 RAET1E retinoic acid early transcript 1E protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "LETAL|bA350J20.7|ULBP4" 2003-04-28 2016-10-05 135250 ENSG00000164520 OTTHUMG00000015796 uc003qnl.1 AF359243 NM_139165 "CCDS59043|CCDS59042|CCDS5221|CCDS59044" Q8TD07 11827464 "MGI:109431|MGI:109432|MGI:109477|MGI:1861032|MGI:2675273|MGI:3774845" RGD:1311118 609243 HGNC:16793 "ENST00000357183.9|NM_001394057.1" +HGNC:48994 RAET1E-AS1 RAET1E antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.1 06q25.1 RAET1G-AS1 Antisense RNAs 1987 2013-07-25 2013-07-25 100652739 ENSG00000223701 OTTHUMG00000015804 NR_045126 RAET1E-AS1 HGNC:48994 +HGNC:16794 RAET1F retinoic acid early transcript 1F pseudogene pseudogene pseudogene Approved 6q24.1-q25.1 06q24.1-q25.1 2003-04-29 2014-11-19 353089 NG_005420 11827464 HGNC:16794 +HGNC:16795 RAET1G retinoic acid early transcript 1G protein-coding gene gene with protein product Approved 6q25.1 06q25.1 ULBP5 retinoic acid early transcript 1G pseudogene 2003-04-29 2004-11-22 2016-10-05 353091 ENSG00000203722 OTTHUMG00000015802 uc010kii.1 AY172579 NM_001001788 CCDS43514 Q6H3X3 "11827464|15240696" "MGI:109432|MGI:1925027|MGI:2675273" 609244 HGNC:16795 "ENST00000367360.7|NM_001001788.4" +HGNC:16797 RAET1K retinoic acid early transcript 1K pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 2003-04-29 2020-04-20 646024 ENSG00000218358 OTTHUMG00000015815 AF425244 NR_024045 11827464 PGOHUM00000243416 HGNC:16797 +HGNC:16798 RAET1L retinoic acid early transcript 1L protein-coding gene gene with protein product Approved 6q25.1 06q25.1 2003-04-29 2016-10-05 154064 ENSG00000155918 OTTHUMG00000015809 uc063sfv.1 AY039682 NM_130900 CCDS5224 Q5VY80 11827464 "MGI:109432|MGI:1925027" 611047 HGNC:16798 "ENST00000367341.6|NM_130900.3" +HGNC:16799 RAET1M retinoic acid early transcript 1M pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 2003-04-29 2014-11-19 353094 ENSG00000216444 OTTHUMG00000015816 NG_008390 11827464 PGOHUM00000243819 HGNC:16799 +HGNC:9829 RAF1 Raf-1 proto-oncogene, serine/threonine kinase protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "Raf-1|c-Raf|CRAF" C-Raf proto-oncogene, serine/threonine kinase v-raf-1 murine leukemia viral oncogene homolog 1 "Mitogen-activated protein kinase kinase kinases|RAF family" "654|1157" 1986-01-01 2014-06-26 2021-04-13 5894 ENSG00000132155 OTTHUMG00000129789 uc003bxf.5 X03484 NM_002880 "CCDS87047|CCDS2612" P04049 1611909 MGI:97847 RGD:3531 LRG_413|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_413.xml RAF1 164760 138722 objectId:2184 HGNC:9829 "ENST00000442415.7|NM_001354689.3" HGNC:9829 +HGNC:9830 RAF1P1 RAF1 pseudogene 1 pseudogene pseudogene Approved 4p16.1 04p16.1 v-raf-1 murine leukemia viral oncogene homolog 1 pseudogene 1 1986-01-01 2014-06-26 2014-11-18 348910 ENSG00000250040 OTTHUMG00000160133 NG_003018 PGOHUM00000245458 HGNC:9830 +HGNC:9831 RAG1 recombination activating 1 protein-coding gene gene with protein product Approved 11p12 11p12 "RNF74|MGC43321" "recombination activating protein 1|RING finger protein 74|V(D)J recombination-activating protein 1" recombination activating gene 1 "Ring finger proteins|DNA transposon derived genes" "58|1415" 1990-06-18 2016-08-04 2021-05-26 5896 ENSG00000166349 OTTHUMG00000166392 uc001mwu.5 M29474 NM_000448 CCDS7902 P15918 "1612612|1283330" MGI:97848 RGD:619790 "RAG1base: Mutation registry for autosomal recessive RAG1 deficiency|http://structure.bmc.lu.se/idbase/RAG1base/|LRG_98|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_98.xml" 179615 118215 HGNC:9831 "ENST00000299440.6|NM_000448.3" HGNC:9831 +HGNC:9832 RAG2 recombination activating 2 protein-coding gene gene with protein product Approved 11p12 11p12 recombination activating gene 2 1990-08-15 2016-08-04 2021-05-26 5897 ENSG00000175097 OTTHUMG00000166393 uc021qgd.2 AF080577 NM_000536 CCDS7903 P55895 1283330 MGI:97849 RGD:1305588 "RAG2base: Mutation registry for autosomal recessive RAG2 deficiency|http://structure.bmc.lu.se/idbase/RAG2base/|LRG_99|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_99.xml" 179616 118218 HGNC:9832 "ENST00000311485.8|NM_000536.4" HGNC:9832 +HGNC:9834 RAI1 retinoic acid induced 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DKFZP434A139|SMS|KIAA1820|MGC12824" SMCR Smith-Magenis syndrome chromosome region 1999-04-16 2014-11-19 10743 ENSG00000108557 OTTHUMG00000059314 uc002grm.4 AJ230819 NM_030665 CCDS11188 Q7Z5J4 10036180 MGI:103291 RGD:1308500 607642 118220 HGNC:9834 "ENST00000353383.6|NM_030665.4" HGNC:9834 +HGNC:40496 RAI1-AS1 RAI1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 RAI1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2014-11-19 100861516 ENSG00000237328 OTTHUMG00000059315 uc060bxq.1 "BX366317|BX401587" NR_130894 RAI1-AS1 HGNC:40496 +HGNC:9835 RAI2 retinoic acid induced 2 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 1998-09-29 2020-04-02 10742 ENSG00000131831 OTTHUMG00000021209 uc022btl.2 Z93242 NM_021785 "CCDS14183|CCDS55374" Q9Y5P3 "10049581|10394933" MGI:1344378 RGD:1560139 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RAI2 300217 HGNC:9835 "ENST00000451717.6|NM_021785.6" +HGNC:14873 RAI14 retinoic acid induced 14 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "NORPEG|KIAA1334|RAI13|DKFZp564G013" novel retinal pigment epithelial Ankyrin repeat domain containing 403 2001-04-20 2016-10-05 26064 ENSG00000039560 OTTHUMG00000162019 uc003jir.4 AB037755 NM_015577 "CCDS54839|CCDS34142|CCDS54837|CCDS54838" Q9P0K7 11042181 MGI:1922896 RGD:1305942 606586 HGNC:14873 "ENST00000265109.8|NM_015577.3" +HGNC:55983 RAI14-DT RAI14 divergent transcript non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 Divergent transcripts 1990 2021-11-12 2021-11-12 105374723 ENSG00000271874 XR_007058728 +HGNC:9839 RALA RAS like proto-oncogene A protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "RAS-like protein A|Ras-related protein Ral-A|Ras family small GTP binding protein RALA|ras related GTP binding protein A" RAL v-ral simian leukemia viral oncogene homolog A (ras related) RAS type GTPase family 389 2001-06-22 2016-08-11 2016-10-05 5898 ENSG00000006451 OTTHUMG00000128775 uc003thd.4 NM_005402 CCDS5460 P11233 3292391 MGI:1927243 RGD:619851 179550 HGNC:9839 "ENST00000005257.7|NM_005402.4" HGNC:9839 +HGNC:9840 RALB RAS like proto-oncogene B protein-coding gene gene with protein product Approved 2q14.2 02q14.2 ras related GTP binding protein B v-ral simian leukemia viral oncogene homolog B RAS type GTPase family 389 1989-06-30 2016-08-11 2016-08-11 5899 ENSG00000144118 OTTHUMG00000131435 uc002tmk.4 NM_002881 CCDS2131 P11234 MGI:1927244 RGD:619852 179551 HGNC:9840 "ENST00000272519.10|NM_002881.3" +HGNC:9841 RALBP1 ralA binding protein 1 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "RLIP76|RIP1|RIP" 2000-02-11 2014-11-19 10928 ENSG00000017797 OTTHUMG00000131596 uc002kob.4 L42542 NM_006788 CCDS11845 Q15311 7673236 MGI:108466 RGD:621134 605801 HGNC:9841 "ENST00000383432.8|NM_006788.4" +HGNC:54696 RALBP1P1 RALBP1 pseudogene 1 pseudogene pseudogene Approved 3q26.33 03q26.33 2019-11-28 2019-11-28 131054 ENSG00000239880 NG_022283 +HGNC:54697 RALBP1P2 RALBP1 pseudogene 2 pseudogene pseudogene Approved 2q11.2 02q11.2 2019-11-28 2019-11-28 129522 ENSG00000238029 NG_021573 +HGNC:17770 RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 "GRIPE|DKFZp667F074|KIAA0884|Tulip1|RalGAPalpha1" "tuberin-like protein 1|GAP-related interacting protein to E12" GARNL1 "GTPase activating RANGAP domain-like 1|GTPase activating Rap/RanGAP domain-like 1" 2003-10-09 2009-09-09 2019-11-26 2019-11-26 253959 ENSG00000174373 OTTHUMG00000170619 uc001wtj.4 AK126975 NM_001283043 "CCDS32065|CCDS61439|CCDS32064|CCDS61440|CCDS81797" Q6GYQ0 19520869 MGI:1931050 RGD:620642 608884 HGNC:17770 "ENST00000680220.1|NM_001346249.2" HGNC:17770 +HGNC:23203 RALGAPA1P1 RALGAPA1 pseudogene 1 pseudogene pseudogene Approved 9q31.2 09q31.2 DKFZp566D133 GTPase activating RANGAP domain-like 2 "GARNL2|GARNL2P|RALGAPA1P" "GTPase activating RANGAP domain-like 2 pseudogene|GTPase activating Rap/RanGAP domain-like 2 pseudogene|Ral GTPase activating protein catalytic alpha subunit 1 pseudogene 1" 2003-10-09 2016-01-26 2019-11-26 2019-11-26 26134 ENSG00000229419 OTTHUMG00000020427 AL050050 NG_004673 11221845 PGOHUM00000304431 HGNC:23203 +HGNC:16207 RALGAPA2 Ral GTPase activating protein catalytic subunit alpha 2 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "dJ1049G11.4|AS250|KIAA1272|RapGAPalpha2" C20orf74 chromosome 20 open reading frame 74 Armadillo like helical domain containing 1492 2001-07-17 2009-09-09 2019-11-26 2019-11-26 57186 ENSG00000188559 OTTHUMG00000032010 uc002wrz.4 "AL078634|DQ310704" NM_020343 CCDS46584 Q2PPJ7 "16490346|19520869" MGI:3036245 RGD:1308023 618836 HGNC:16207 "ENST00000202677.12|NM_020343.4" +HGNC:29221 RALGAPB Ral GTPase activating protein non-catalytic subunit beta protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "DKFZp781M2411|RalGAPbeta" KIAA1219 KIAA1219 "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2006-03-23 2009-09-09 2019-11-26 2019-11-26 57148 ENSG00000170471 OTTHUMG00000140270 uc002xiw.5 AB033045 NM_020336 "CCDS13305|CCDS63272" Q86X10 19520869 MGI:2444531 RGD:1306861 618833 HGNC:29221 "ENST00000262879.11|NM_020336.4" HGNC:29221 +HGNC:9842 RALGDS ral guanine nucleotide dissociation stimulator protein-coding gene gene with protein product Approved 9q34.13-q34.2 09q34.13-q34.2 "RGF|RalGEF|RGDS" 1997-01-20 2018-02-13 5900 ENSG00000160271 OTTHUMG00000020858 uc004cco.5 AB037729 NM_006266 "CCDS65174|CCDS6959|CCDS65172|CCDS43897|CCDS65173" Q12967 7972015 MGI:107485 RGD:3533 601619 HGNC:9842 "ENST00000372050.8|NM_006266.4" HGNC:9842 +HGNC:16851 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "RALGPS1A|RALGEF2|KIAA0351" Pleckstrin homology domain containing 682 2004-05-17 2014-11-19 9649 ENSG00000136828 OTTHUMG00000020696 uc004bqo.3 AB002349 NM_014636 "CCDS55345|CCDS55346|CCDS35143|CCDS55344" Q5JS13 "9205841|10747847" MGI:1922008 RGD:2319500 614444 HGNC:16851 "ENST00000259351.10|NM_014636.3" +HGNC:30279 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "KIAA0351|FLJ10244|FLJ25604" Pleckstrin homology domain containing 682 2004-06-28 2016-10-05 55103 ENSG00000116191 OTTHUMG00000035076 uc001glz.5 AK098470 NM_152663 "CCDS1325|CCDS65733" Q86X27 "10747847|12102558" MGI:1925505 RGD:1311537 617819 HGNC:30279 "ENST00000367635.8|NM_152663.5" +HGNC:55163 RALGPS2-AS1 RALGPS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 Antisense RNAs 1987 2020-07-17 2020-07-17 646976 ENSG00000273062 XR_007070890 +HGNC:15921 RALY RALY heterogeneous nuclear ribonucleoprotein protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "P542|HNRPCL2" "RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)|RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2001-06-21 2013-08-06 2020-11-17 22913 ENSG00000125970 OTTHUMG00000032283 uc002xab.4 AF148457 NM_007367 "CCDS13230|CCDS13229" Q9UKM9 "10500250|23614458" MGI:97850 RGD:1307228 614663 HGNC:15921 "ENST00000246194.8|NM_016732.3" +HGNC:50743 RALY-AS1 RALY antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 Antisense RNAs 1987 2014-06-13 2018-05-30 101926888 ENSG00000285230 OTTHUMG00000032279 NR_109885 RALY-AS1 HGNC:50743 +HGNC:27036 RALYL RALY RNA binding protein like protein-coding gene gene with protein product Approved 8q21.2 08q21.2 HNRPCL3 RNA binding motif containing 725 2007-07-25 2017-05-12 2020-11-17 138046 ENSG00000184672 OTTHUMG00000164628 uc003yct.5 NM_001100391 "CCDS75761|CCDS75760|CCDS55252|CCDS55253" Q86SE5 12688537 MGI:1924147 RGD:1305844 614648 HGNC:27036 "ENST00000521268.6|NM_173848.7" +HGNC:31022 RAMAC RNA guanine-7 methyltransferase activating subunit protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "HsT19360|C15orf18|MGC2560|RAM" RNMT-activating mini protein "FAM103A1|RAMMET" "family with sequence similarity 103 member A1|RNMT activating mRNA cap methyltransferase subunit" 2005-11-24 2018-06-08 2018-06-08 2018-06-14 83640 ENSG00000169612 OTTHUMG00000147357 uc002bjl.3 CR597724 NM_031452 CCDS10321 Q9BTL3 "22099306|27934633|24200467" MGI:1914398 RGD:1310022 614547 HGNC:31022 "ENST00000304191.4|NM_031452.4" +HGNC:21234 RAMACL RNA guanine-7 methyltransferase activating subunit like (pseudogene) pseudogene pseudogene Approved 6q27 06q27 dJ427A4.2 "C6orf119|FAM103A2P|RAMMETL" "chromosome 6 open reading frame 119|family with sequence similarity 103, member A2 pseudogene|RNMT activating mRNA cap methyltransferase subunit like (pseudogene)" 2003-05-29 2018-06-08 2018-06-08 2021-03-08 353267 ENSG00000235272 OTTHUMG00000016003 NG_005047 HGNC:21234 +HGNC:9843 RAMP1 receptor activity modifying protein 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 Receptor (G protein-coupled) activity modifying proteins 718 2000-07-31 2016-04-01 2017-12-06 10267 ENSG00000132329 OTTHUMG00000133337 uc002vxj.4 AJ001014 NM_005855 "CCDS2522|CCDS77546" O60894 MGI:1858418 RGD:61870 605153 objectId:51 HGNC:9843 "ENST00000254661.5|NM_005855.4" +HGNC:9844 RAMP2 receptor activity modifying protein 2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 Receptor (G protein-coupled) activity modifying proteins 718 2000-07-31 2016-04-01 2017-12-06 10266 ENSG00000131477 OTTHUMG00000180648 uc002ibg.5 AJ001015 NM_005854 CCDS11437 O60895 MGI:1859650 RGD:61872 605154 objectId:52 HGNC:9844 "ENST00000253796.10|NM_005854.3" HGNC:9844 +HGNC:44358 RAMP2-AS1 RAMP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 Antisense RNAs 1987 2012-08-17 2016-12-19 100190938 ENSG00000197291 OTTHUMG00000180647 uc060fmv.1 "BC018638|BC041021" NR_024461 27784795 RAMP2-AS1 HGNC:44358 +HGNC:9845 RAMP3 receptor activity modifying protein 3 protein-coding gene gene with protein product Approved 7p13 07p13 Receptor (G protein-coupled) activity modifying proteins 718 2000-07-31 2016-07-27 2017-12-06 10268 ENSG00000122679 OTTHUMG00000023729 uc064dlz.1 AJ001016 NM_005856 CCDS5503 O60896 MGI:1860292 RGD:61873 605155 objectId:53 HGNC:9845 "ENST00000242249.8|NM_005856.3" +HGNC:9846 RAN RAN, member RAS oncogene family protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "ARA24|TC4|Gsp1" RAN family GTPases 391 1996-11-14 2015-09-02 5901 ENSG00000132341 OTTHUMG00000134328 uc001uir.4 M31469 NM_006325 "CCDS9271|CCDS73546" P62826 8421051 MGI:1333112 RGD:620367 601179 HGNC:9846 "ENST00000543796.6|NM_006325.5" +HGNC:9847 RANBP1 RAN binding protein 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 HTF9A Small nucleolar RNA protein coding host genes 1835 1996-11-14 2014-11-18 5902 ENSG00000099901 OTTHUMG00000150490 uc002zro.3 D38076 NM_002882 "CCDS63408|CCDS74823|CCDS13775" P43487 "7616957|10330396" MGI:96269 RGD:1310521 601180 HGNC:9847 "ENST00000430524.6|NM_001278639.2" +HGNC:54908 RANBP1P1 RANBP1 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-11-11 389842 ENSG00000228519 NG_027557 +HGNC:9848 RANBP2 RAN binding protein 2 protein-coding gene gene with protein product Approved 2q13 02q13 "NUP358|ADANE" nucleoporin 358 ANE1 acute necrotizing encephalopathy 1 (autosomal dominant) "Zinc fingers RANBP2-type |Tetratricopeptide repeat domain containing|Cyclophilin peptidylprolyl isomerases|Nucleoporins" "89|769|909|1051" 1996-11-14 2017-02-01 5903 ENSG00000153201 OTTHUMG00000130981 uc002tem.4 D42063 NM_006267 CCDS2079 P49792 "7724562|19118815" MGI:894323 RGD:1560047 RANBP2 601181 173526 HGNC:9848 "ENST00000283195.11|NM_006267.5" HGNC:9848 +HGNC:9850 RANBP3 RAN binding protein 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 1998-11-30 2019-08-21 8498 ENSG00000031823 OTTHUMG00000180636 uc002mdw.4 Y08698 NM_007322 "CCDS42477|CCDS74268|CCDS45935|CCDS42478" Q9H6Z4 9637251 MGI:1919060 RGD:1589604 603327 HGNC:9850 "ENST00000340578.10|NM_007322.3" +HGNC:55312 RANBP3-DT RANBP3 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.3 19p13.3 Divergent transcripts 1990 2020-10-19 2020-10-19 100128568 ENSG00000266983 NR_046376 +HGNC:26353 RANBP3L RAN binding protein 3 like protein-coding gene gene with protein product Approved 5p13.2 05p13.2 FLJ25422 RAN binding protein 3-like 2006-08-24 2016-01-27 2016-01-27 202151 ENSG00000164188 OTTHUMG00000131110 uc003jkh.4 BC047660 NM_145000 "CCDS3918|CCDS54843" Q86VV4 25755279 MGI:2444654 RGD:1307559 616391 HGNC:26353 "ENST00000296604.8|NM_145000.5" +HGNC:9851 RANBP6 RAN binding protein 6 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 Armadillo like helical domain containing 1492 1999-12-22 2015-09-02 26953 ENSG00000137040 OTTHUMG00000019512 uc003zjr.4 AF039023 NM_012416 "CCDS6467|CCDS78378" O60518 MGI:2683212 RGD:1305165 HGNC:9851 "ENST00000259569.6|NM_012416.4" +HGNC:13727 RANBP9 RAN binding protein 9 protein-coding gene gene with protein product Approved 6p23 06p23 RanBPM Ran Binding Protein in the Microtubule organizing center CTLH complex 1561 2000-12-04 2015-09-02 10048 ENSG00000010017 OTTHUMG00000015642 uc003nbb.3 AB008515 NM_005493 CCDS4529 Q96S59 9817760 MGI:1928741 RGD:1561940 603854 HGNC:13727 "ENST00000011619.6|NM_005493.3" +HGNC:29285 RANBP10 RAN binding protein 10 protein-coding gene gene with protein product Approved 16q22 16q22 KIAA1464 2004-08-19 2019-08-20 57610 ENSG00000141084 OTTHUMG00000184044 uc002eud.4 AB040897 NM_020850 "CCDS32469|CCDS81999" Q6VN20 14684163 MGI:1921584 RGD:1311587 614031 HGNC:29285 "ENST00000317506.8|NM_020850.3" +HGNC:14428 RANBP17 RAN binding protein 17 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 Armadillo like helical domain containing 1492 2001-01-22 2016-10-05 64901 ENSG00000204764 OTTHUMG00000163203 uc003mba.4 AF222747 NM_022897 CCDS34287 Q9H2T7 11024021 MGI:1929706 RGD:1562576 606141 HGNC:14428 "ENST00000523189.6|NM_022897.5" +HGNC:19734 RANBP20P RAN binding protein 20 pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2003-01-13 2014-11-19 326627 ENSG00000259144 OTTHUMG00000171013 NG_002609 PGOHUM00000262206 HGNC:19734 +HGNC:9854 RANGAP1 Ran GTPase activating protein 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "Fug1|KIAA1835" SD segregation distorter homolog (Drosophila) MicroRNA protein coding host genes 1691 1998-02-26 2016-10-05 5905 ENSG00000100401 OTTHUMG00000150940 uc003azu.5 X82260 NM_002883 CCDS14012 P46060 7878053 MGI:103071 RGD:1310380 602362 470954 HGNC:9854 "ENST00000356244.8|NM_002883.4" +HGNC:17679 RANGRF RAN guanine nucleotide release factor protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MOG1|HSPC165|HSPC236|RANGNRF" MOG1 homolog (S. cerevisiae) 2007-06-21 2020-04-02 29098 ENSG00000108961 OTTHUMG00000178473 uc002gkv.4 AF151070 NM_016492 "CCDS54087|CCDS11137|CCDS82066|CCDS54086" Q9HD47 11290418 MGI:1889073 RGD:1563195 607954 470676 HGNC:17679 "ENST00000226105.11|NM_016492.5" HGNC:17679 +HGNC:21631 RANP1 RAN pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 Em:AB014080.2 RAN, member RAS oncogene family pseudogene 1 2003-07-02 2019-01-22 2019-01-22 221547 ENSG00000236603 OTTHUMG00000031142 AB088093 NG_002749 HGNC:21631 +HGNC:39857 RANP2 RAN pseudogene 2 pseudogene pseudogene Approved 7q35 07q35 RAN, member RAS oncogene family pseudogene 2 2011-04-05 2019-01-22 2019-01-22 100874191 ENSG00000232391 OTTHUMG00000152745 NG_007092 PGOHUM00000233636 HGNC:39857 +HGNC:39858 RANP3 RAN pseudogene 3 pseudogene pseudogene Approved 11q13.4 11q13.4 RAN, member RAS oncogene family pseudogene 3 2011-04-05 2019-01-22 2019-01-22 100874227 ENSG00000254500 OTTHUMG00000165622 NG_032364 PGOHUM00000242805 HGNC:39858 +HGNC:39859 RANP4 RAN pseudogene 4 pseudogene pseudogene Approved Xq26.3 Xq26.3 RAN, member RAS oncogene family pseudogene 4 2011-04-05 2019-01-22 2019-01-22 100130621 ENSG00000225125 OTTHUMG00000022514 NG_022642 HGNC:39859 +HGNC:39860 RANP5 RAN pseudogene 5 pseudogene pseudogene Approved 1p13.3 01p13.3 RAN, member RAS oncogene family pseudogene 5 2011-04-05 2019-01-22 2019-01-22 100129428 ENSG00000228054 OTTHUMG00000042362 NG_022798 HGNC:39860 +HGNC:39861 RANP6 RAN pseudogene 6 pseudogene pseudogene Approved 4q34.1 04q34.1 RAN, member RAS oncogene family pseudogene 6 2011-04-05 2019-01-22 2019-01-22 100128266 ENSG00000213370 OTTHUMG00000153240 NG_022039 HGNC:39861 +HGNC:39862 RANP7 RAN pseudogene 7 pseudogene pseudogene Approved 3p24.3 03p24.3 RAN, member RAS oncogene family pseudogene 7 2011-04-05 2019-01-22 2019-01-22 100874192 ENSG00000226183 OTTHUMG00000155606 NG_032365 PGOHUM00000237958 HGNC:39862 +HGNC:39863 RANP8 RAN pseudogene 8 pseudogene pseudogene Approved 13q12.11 13q12.11 RAN, member RAS oncogene family pseudogene 8 2011-04-05 2019-01-22 2019-01-22 100420519 ENSG00000233524 OTTHUMG00000016520 NG_024835 HGNC:39863 +HGNC:39864 RANP9 RAN pseudogene 9 pseudogene pseudogene Approved 8p12 08p12 RAN, member RAS oncogene family pseudogene 9 2011-04-05 2019-01-22 2019-01-22 100874193 ENSG00000253393 OTTHUMG00000163933 NG_032366 PGOHUM00000249614 HGNC:39864 +HGNC:9855 RAP1A RAP1A, member of RAS oncogene family protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "KREV-1|SMGP21" RAS type GTPase family 389 1989-06-30 2016-10-05 5906 ENSG00000116473 OTTHUMG00000011959 uc001ebi.4 BC014086 NM_002884 CCDS840 P62834 3143720 MGI:97852 RGD:1359694 179520 448950 HGNC:9855 "ENST00000369709.4|NM_002884.4" +HGNC:9856 RAP1AP RAP1A, member of RAS oncogene family pseudogene pseudogene pseudogene Approved 14q24.3 14q24.3 "KREV1P|SMGP21A" 1993-07-27 2017-10-30 5907 ENSG00000258769 OTTHUMG00000171213 NG_007117 8449039 PGOHUM00000292726 HGNC:9856 +HGNC:9857 RAP1B RAP1B, member of RAS oncogene family protein-coding gene gene with protein product Approved 12q15 12q15 "K-REV|RAL1B|DKFZp586H0723" RAS type GTPase family 389 1989-06-30 2016-10-05 5908 ENSG00000127314 OTTHUMG00000133660 uc001suc.5 NM_001010942 "CCDS58252|CCDS58253|CCDS8984|CCDS58254" P61224 "3137530|12089143" MGI:894315 RGD:620577 179530 455925 HGNC:9857 "ENST00000250559.14|NM_001010942.3" +HGNC:55079 RAP1BL RAP1B like (pseudogene) pseudogene pseudogene Approved 5q13.3 05q13.3 hRap1B-retro 2020-06-18 2020-06-18 643752 ENSG00000254893 NG_012429 16307016 +HGNC:49780 RAP1BP1 RAP1B pseudogene 1 pseudogene pseudogene Approved 9p22.1 09p22.1 RAP1B, member of RAS oncogene family pseudogene 1 2014-02-14 2020-06-17 2020-06-17 100506390 ENSG00000236857 OTTHUMG00000019603 NG_030297 PGOHUM00000260453 HGNC:49780 +HGNC:49781 RAP1BP2 RAP1B pseudogene 2 pseudogene pseudogene Approved 3q13.11 03q13.11 RAP1B, member of RAS oncogene family pseudogene 2 2014-02-14 2020-06-17 2020-06-17 100128179 ENSG00000214405 OTTHUMG00000159183 NG_030384 PGOHUM00000250296 HGNC:49781 +HGNC:49782 RAP1BP3 RAP1B pseudogene 3 pseudogene pseudogene Approved 6q22.1 06q22.1 RAP1B, member of RAS oncogene family pseudogene 3 2014-02-14 2020-06-17 2020-06-17 100132917 ENSG00000219703 OTTHUMG00000015452 NG_030190 PGOHUM00000243752 HGNC:49782 +HGNC:9858 RAP1GAP RAP1 GTPase activating protein protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA0474|RAP1GAP1|RAP1GAPII" RAP1GA1 RAP1, GTPase activating protein 1 1993-04-12 2006-04-12 2006-04-12 2016-10-05 5909 ENSG00000076864 OTTHUMG00000007513 uc001bex.4 BC054490 NM_002885 "CCDS53277|CCDS53276|CCDS218|CCDS81276" P47736 1904317 MGI:109338 RGD:1309908 600278 HGNC:9858 "ENST00000374765.9|NM_002885.4" +HGNC:29176 RAP1GAP2 RAP1 GTPase activating protein 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 KIAA1039 GARNL4 "GTPase activating RANGAP domain-like 4|GTPase activating Rap/RanGAP domain-like 4" 2004-02-24 2009-09-14 2009-09-14 2020-04-02 23108 ENSG00000132359 OTTHUMG00000177642 uc010ckd.4 AB028962 NM_001100398 "CCDS82035|CCDS45573|CCDS45574" Q684P5 15632203 MGI:3028623 RGD:1304590 618714 HGNC:29176 "ENST00000254695.13|NM_015085.5" +HGNC:9859 RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 protein-coding gene gene with protein product Approved 4q23 04q23 SmgGDS RAP1, GTP-GDP dissociation stimulator 1 Armadillo repeat containing 409 1994-03-23 2016-02-29 2016-02-29 5910 ENSG00000138698 OTTHUMG00000160987 uc003htx.5 NM_001100426 "CCDS47105|CCDS43254|CCDS43253|CCDS47108|CCDS47107|CCDS47106" P52306 "8262526|17951244" MGI:2385189 RGD:1308558 RAP1GDS1 179502 HGNC:9859 "ENST00000408927.8|NM_001100427.2" +HGNC:9861 RAP2A RAP2A, member of RAS oncogene family protein-coding gene gene with protein product Approved 13q32.1 13q32.1 K-REV RAP2 RAS type GTPase family 389 1989-06-30 2016-10-05 5911 ENSG00000125249 OTTHUMG00000017240 uc001vnd.4 AF205602 NM_021033 CCDS9485 P10114 MGI:97855 RGD:620590 179540 HGNC:9861 "ENST00000245304.5|NM_021033.7" +HGNC:9862 RAP2B RAP2B, member of RAS oncogene family protein-coding gene gene with protein product Approved 3q25.2 03q25.2 "Ras-related protein RAP-2B|small GTP binding protein|Ras family small GTP binding protein RAP2B" RAS type GTPase family 389 1991-06-06 2014-05-09 5912 ENSG00000181467 OTTHUMG00000159655 uc003ezr.5 NM_002886 CCDS3170 P61225 2118648 MGI:1921262 RGD:620591 179541 HGNC:9862 "ENST00000323534.5|NM_002886.4" +HGNC:21165 RAP2C RAP2C, member of RAS oncogene family protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 DKFZp313B211 RAS type GTPase family 389 2003-05-22 2016-10-05 57826 ENSG00000123728 OTTHUMG00000022424 uc004ewp.5 BC051467 NM_021183 "CCDS76024|CCDS14632" Q9Y3L5 MGI:1919315 RGD:1588562 301016 HGNC:21165 "ENST00000370874.2|NM_001271186.2" +HGNC:40957 RAP2C-AS1 RAP2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.2 Xq26.2 Antisense RNAs 1987 2013-09-19 2014-11-19 101928578 ENSG00000232160 OTTHUMG00000022425 NR_110410 RAP2C-AS1 HGNC:40957 +HGNC:49146 RAP2CP1 RAP2C pseudogene 1 pseudogene pseudogene Approved 14q32.32 14q32.32 2013-09-19 2020-07-10 106480249 ENSG00000270938 OTTHUMG00000184396 NG_043873 PGOHUM00000248277 HGNC:49146 +HGNC:4568 RAPGEF1 Rap guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 C3G GRF2 "guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)|Rap guanine nucleotide exchange factor (GEF) 1" 1994-12-13 2004-03-02 2015-11-09 2016-10-05 2889 ENSG00000107263 OTTHUMG00000020829 uc064wrm.1 BC041710 NM_005312 "CCDS78450|CCDS48048|CCDS48047" Q13905 "7959692|7512734" MGI:104580 RGD:619793 600303 HGNC:4568 "ENST00000683357.1|NM_001377935.1" +HGNC:16854 RAPGEF2 Rap guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "PDZ-GEF1|RA-GEF|DKFZP586O1422|KIAA0313" Rap GEP PDZGEF1 "PDZ domain containing guanine nucleotide exchange factor (GEF) 1|Rap guanine nucleotide exchange factor (GEF) 2" "PDZ domain containing|MicroRNA protein coding host genes" "1220|1691" 2003-05-20 2004-03-01 2015-11-09 2016-10-25 9693 ENSG00000109756 OTTHUMG00000161451 uc003iqg.5 AB002311 NM_014247 CCDS43277 Q9Y4G8 "9205841|10934204" MGI:2659071 RGD:1306434 609530 HGNC:16854 "ENST00000691494.1|NM_001394067.2" HGNC:16854 +HGNC:16629 RAPGEF3 Rap guanine nucleotide exchange factor 3 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "cAMP-GEFI|EPAC|bcm910" exchange protein directly activated by cAMP 1 "RAP guanine-nucleotide-exchange factor (GEF) 3|Rap guanine nucleotide exchange factor (GEF) 3" 2004-03-01 2015-11-09 2016-10-05 10411 ENSG00000079337 OTTHUMG00000133667 uc058nbe.1 AK092448 NM_006105 "CCDS41775|CCDS31784" O95398 "10777494|9856955" MGI:2441741 RGD:621869 606057 objectId:1292 HGNC:16629 "ENST00000449771.7|NM_001098531.4" +HGNC:16626 RAPGEF4 Rap guanine nucleotide exchange factor 4 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "cAMP-GEFII|CGEF2" "cAMP-regulated guanine nucleotide exchange factor II|exchange protein directly activated by cAMP 2" "RAP guanine-nucleotide-exchange factor (GEF) 4|Rap guanine nucleotide exchange factor (GEF) 4" 2004-03-01 2015-11-09 2022-03-08 11069 ENSG00000091428 OTTHUMG00000133677 uc002uhv.5 U78516 NM_007023 "CCDS42775|CCDS63060|CCDS74604|CCDS63061|CCDS42776" Q8WZA2 "10777494|9856955" MGI:1917723 RGD:621886 606058 objectId:1293 HGNC:16626 "ENST00000397081.8|NM_007023.4" HGNC:16626 +HGNC:28081 RAPGEF4-AS1 RAPGEF4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.1 02q31.1 RAPGEF4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-19 91149 ENSG00000228016 OTTHUMG00000154091 uc002uht.4 AL157450 NR_026995 RAPGEF4-AS1 HGNC:28081 +HGNC:16862 RAPGEF5 Rap guanine nucleotide exchange factor 5 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "KIAA0277|GFR|MR-GEF" M-Ras-regulated GEF Rap guanine nucleotide exchange factor (GEF) 5 2004-03-01 2015-11-09 2015-11-09 9771 ENSG00000136237 OTTHUMG00000152525 uc003svg.4 D87467 NM_012294 CCDS55093 Q92565 "9039502|10486569" MGI:2444365 RGD:1561668 609527 HGNC:16862 "ENST00000665637.1|NM_012294.5" +HGNC:20655 RAPGEF6 Rap guanine nucleotide exchange factor 6 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "RA-GEF-2|PDZ-GEF2" PDZGEF2 "PDZ domain containing guanine nucleotide exchange factor (GEF) 2|Rap guanine nucleotide exchange factor (GEF) 6" PDZ domain containing 1220 2003-09-03 2004-03-02 2015-11-09 2015-11-09 51735 ENSG00000158987 OTTHUMG00000162683 uc003kvn.2 AF117947 NM_016340 "CCDS54898|CCDS54897|CCDS54899|CCDS54900|CCDS54901|CCDS34225" Q8TEU7 "11524421|12095257" MGI:2384761 RGD:1307645 610499 HGNC:20655 "ENST00000509018.6|NM_016340.6" +HGNC:17428 RAPGEFL1 Rap guanine nucleotide exchange factor like 1 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 Link-GEFII Link guanine nucleotide exchange factor II "RAP guanine-nucleotide-exchange factor (GEF)-like 1|Rap guanine nucleotide exchange factor (GEF)-like 1" MicroRNA protein coding host genes 1691 2004-03-01 2015-11-09 2016-10-05 51195 ENSG00000108352 OTTHUMG00000133325 uc032fib.2 AF117946 NM_016339 "CCDS11363|CCDS77023|CCDS77022" Q9UHV5 MGI:3611446 RGD:1563269 HGNC:17428 "ENST00000620260.6|NM_016339.6" +HGNC:14436 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 KIAA1681 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18 "ALS2CR9|ALS2CR18" amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9 Pleckstrin homology domain containing 682 2001-01-26 2003-11-26 2003-11-25 2016-10-05 65059 ENSG00000173166 OTTHUMG00000132876 uc002vad.5 AJ584699 NM_025252 "CCDS2359|CCDS2360" Q70E73 MGI:1924550 RGD:1308387 609035 HGNC:14436 "ENST00000319170.10|NM_213589.3" +HGNC:9863 RAPSN receptor associated protein of the synapse protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "RNF205|CMS1D|CMS1E" rapsyn receptor-associated protein of the synapse, 43kD Ring finger proteins 58 1996-03-12 2015-11-23 2021-05-26 5913 ENSG00000165917 OTTHUMG00000166891 uc001nfi.2 NM_005055 "CCDS7937|CCDS7936" Q13702 8812503 MGI:99422 RGD:1311592 601592 118222 HGNC:9863 "ENST00000298854.7|NM_005055.5" HGNC:9863 +HGNC:9864 RARA retinoic acid receptor alpha protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "RAR|NR1B1|RARalpha|RAR-alpha" retinoic acid receptor, alpha Retinoic acid receptors 2069 1988-06-09 2016-01-27 2021-12-08 5914 ENSG00000131759 OTTHUMG00000133328 uc002huk.3 X06538 NM_000964 "CCDS11366|CCDS42317|CCDS45671" P10276 "2825036|8244378" MGI:97856 RGD:3534 LRG_1070|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1070.xml RARA 180240 118227 objectId:590 HGNC:9864 "ENST00000254066.10|NM_000964.4" HGNC:9864 +HGNC:49577 RARA-AS1 RARA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.2 17q21.2 Antisense RNAs 1987 2014-01-17 2014-01-20 101929693 ENSG00000265666 OTTHUMG00000179631 BC038432 NR_110861 RARA-AS1 HGNC:49577 +HGNC:9865 RARB retinoic acid receptor beta protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "HAP|NR1B2|RRB2|RARbeta|RAR-beta" retinoic acid receptor, beta Retinoic acid receptors 2069 1989-05-16 2016-01-27 2021-12-08 5915 ENSG00000077092 OTTHUMG00000130480 uc003cdh.4 Y00291 "NM_000965|NM_016152" "CCDS46775|CCDS2642" P10826 MGI:97857 RGD:3535 180220 368114 objectId:591 HGNC:9865 "ENST00000330688.9|NM_000965.5" HGNC:9865 +HGNC:54077 RARB-AS1 RARB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.2 03p24.2 Antisense RNAs 1987 2018-09-28 2018-09-28 105376997 NR_134933 HGNC:54077 +HGNC:9866 RARG retinoic acid receptor gamma protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "RARC|NR1B3|RARgamma|RAR-gamma" retinoic acid receptor, gamma Retinoic acid receptors 2069 1991-02-05 2016-01-27 2021-12-08 5916 ENSG00000172819 OTTHUMG00000048077 uc001scf.4 M57707 NM_000966 "CCDS41790|CCDS58236|CCDS8850|CCDS58237" P13631 1849262 MGI:97858 RGD:1583230 180190 objectId:592 HGNC:9866 "ENST00000425354.7|NM_000966.6" +HGNC:9867 RARRES1 retinoic acid receptor responder 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "TIG1|LXNL" latexin-like retinoic acid receptor responder (tazarotene induced) 1 1998-02-03 2016-03-15 2016-03-15 5918 ENSG00000118849 OTTHUMG00000158834 uc003fci.4 U27185 NM_002888 "CCDS3184|CCDS54665" P49788 "8601727|9270552" MGI:1924461 RGD:1309509 605090 HGNC:9867 "ENST00000237696.10|NM_206963.2" +HGNC:9868 RARRES2 retinoic acid receptor responder 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "TIG2|HP10433" chemerin retinoic acid receptor responder (tazarotene induced) 2 Receptor ligands 542 1998-02-03 2016-03-15 2016-03-15 5919 ENSG00000106538 OTTHUMG00000158325 uc003wha.4 U77594 NM_002889 CCDS5902 Q99969 "9270552|17767914" MGI:1918910 RGD:1309874 601973 ligandId:2945 HGNC:9868 "ENST00000223271.8|NM_002889.4" +HGNC:48700 RARRES2P1 retinoic acid receptor responder 2 pseudogene 1 pseudogene pseudogene Approved 3p12.3 03p12.3 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 1 2013-06-06 2016-03-15 2016-03-15 643255 ENSG00000241622 OTTHUMG00000158964 NG_029071 PGOHUM00000299480 HGNC:48700 +HGNC:48701 RARRES2P2 retinoic acid receptor responder 2 pseudogene 2 pseudogene pseudogene Approved 10q26.3 10q26.3 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 2 2013-06-06 2016-03-15 2016-03-15 644425 ENSG00000213543 OTTHUMG00000019329 NG_005568 PGOHUM00000290026 HGNC:48701 +HGNC:48702 RARRES2P3 retinoic acid receptor responder 2 pseudogene 3 pseudogene pseudogene Approved Xp22.12 Xp22.12 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 3 2013-06-06 2016-03-15 2016-03-15 106481659 ENSG00000231913 OTTHUMG00000021232 NG_016266 PGOHUM00000304528 HGNC:48702 +HGNC:48703 RARRES2P4 retinoic acid receptor responder 2 pseudogene 4 pseudogene pseudogene Approved 4q35.2 04q35.2 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 4 2013-06-06 2016-03-15 2016-03-15 644881 ENSG00000250053 OTTHUMG00000160173 NG_030220 PGOHUM00000300100 HGNC:48703 +HGNC:48704 RARRES2P5 retinoic acid receptor responder 2 pseudogene 5 pseudogene pseudogene Approved 16p11.2 16p11.2 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 5 2013-06-06 2016-03-15 2016-03-15 106480231 ENSG00000260967 OTTHUMG00000176242 NG_043740 PGOHUM00000293570 HGNC:48704 +HGNC:48705 RARRES2P6 retinoic acid receptor responder 2 pseudogene 6 pseudogene pseudogene Approved 16p11.2 16p11.2 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 6 2013-06-06 2016-03-15 2016-03-15 105377820 ENSG00000261010 OTTHUMG00000176244 NG_046669 PGOHUM00000293573 HGNC:48705 +HGNC:48709 RARRES2P7 retinoic acid receptor responder 2 pseudogene 7 pseudogene pseudogene Approved 16p11.1 16p11.1 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 7 2013-06-06 2016-03-15 2016-03-15 106481660 ENSG00000260812 OTTHUMG00000176000 NG_044914 PGOHUM00000293579 HGNC:48709 +HGNC:48707 RARRES2P8 retinoic acid receptor responder 2 pseudogene 8 pseudogene pseudogene Approved 16p11.1 16p11.1 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 8 2013-06-06 2016-03-15 2016-03-15 642652 ENSG00000259996 OTTHUMG00000176013 NG_030246 PGOHUM00000293587 HGNC:48707 +HGNC:48708 RARRES2P9 retinoic acid receptor responder 2 pseudogene 9 pseudogene pseudogene Approved 16p11.1 16p11.1 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 9 2013-06-06 2016-03-15 2016-03-15 106660620 ENSG00000261486 OTTHUMG00000176247 NG_044942 PGOHUM00000293575 HGNC:48708 +HGNC:51742 RARRES2P10 retinoic acid receptor responder 2 pseudogene 10 pseudogene pseudogene Approved 16p11.1 16p11.1 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 10 2015-05-18 2016-03-15 2016-03-15 106481972 ENSG00000260153 OTTHUMG00000176005 NG_043349 PGOHUM00000293583 HGNC:51742 +HGNC:51743 RARRES2P11 retinoic acid receptor responder 2 pseudogene 11 pseudogene pseudogene Approved 20q11.1 20q11.1 retinoic acid receptor responder (tazarotene induced) 2 pseudogene 11 2015-05-18 2016-03-15 2016-11-09 107075248 ENSG00000283123 OTTHUMG00000191525 NG_046383 PGOHUM00000296944 HGNC:51743 +HGNC:9870 RARS1 arginyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5q34 05q34 DALRD1 arginine tRNA ligase 1, cytoplasmic RARS arginyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 1996-10-26 2019-07-15 2019-07-15 2021-05-26 5917 ENSG00000113643 OTTHUMG00000130411 uc003lzx.4 BC000528 NM_002887 CCDS4367 P54136 7590355 MGI:1914297 RGD:1309215 107820 443021 6.1.1.19 HGNC:9870 "ENST00000231572.8|NM_002887.4" HGNC:9870 +HGNC:49893 RARS1P1 arginyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 12p11.23 12p11.23 RARSP1 arginyl-tRNA synthetase pseudogene 1 2014-03-18 2019-07-15 2019-07-15 2019-07-15 100419829 ENSG00000257037 OTTHUMG00000169206 NG_024072 PGOHUM00000239712 HGNC:49893 +HGNC:21406 RARS2 arginyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6q15 06q15 "MGC14993|MGC23778|PRO1992|dJ382I10.6|DALRD2" arginine tRNA ligase 2, mitochondrial (putative) RARSL arginyl-tRNA synthetase-like Aminoacyl tRNA synthetases, Class I 131 2003-06-13 2007-02-23 2007-09-27 2021-05-26 57038 ENSG00000146282 OTTHUMG00000015178 uc003pme.4 AK093934 NM_020320 CCDS5011 Q5T160 17847012 MGI:1923596 RGD:1305419 611524 159426 6.1.1.19 HGNC:21406 "ENST00000369536.10|NM_020320.5" HGNC:21406 +HGNC:9871 RASA1 RAS p21 protein activator 1 protein-coding gene gene with protein product Approved 5q14.3 05q14.3 "GAP|CM-AVM|p120GAP|p120RASGAP|p120" "capillary malformation-arteriovenous malformation|p120 RAS GTPase activating protein|Ras GTPase-activating protein 1" RASA RAS p21 protein activator (GTPase activating protein) 1 "Pleckstrin homology domain containing|SH2 domain containing|C2 and RasGAP domain containing" "682|741|830" 1989-06-30 2016-01-28 2022-01-19 5921 ENSG00000145715 OTTHUMG00000162605 uc003kiw.4 NM_002890 "CCDS47243|CCDS34200" P20936 15917201 MGI:97860 RGD:3537 SH2base: Database for pathogenic SH2 domain mutations|http://structure.bmc.lu.se/idbase/SH2base/ 139150 118231 HGNC:9871 "ENST00000274376.11|NM_002890.3" HGNC:9871 +HGNC:9872 RASA2 RAS p21 protein activator 2 protein-coding gene gene with protein product Approved 3q23 03q23 GAP1M Ras GTPase-activating protein 2 "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 1996-11-15 2021-12-08 5922 ENSG00000155903 OTTHUMG00000160221 uc003etz.2 AF115573 NM_006506 CCDS3117 Q15283 8699317 MGI:2149960 RGD:3538 601589 411370 HGNC:9872 "ENST00000286364.9|NM_006506.5" HGNC:9872 +HGNC:41376 RASA2-IT1 RASA2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3q23 03q23 RASA2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874298 ENSG00000250170 OTTHUMG00000160224 uc062omd.1 RASA2-IT1 +HGNC:20331 RASA3 RAS p21 protein activator 3 protein-coding gene gene with protein product Approved 13q34 13q34 "GAP1IP4BP|GAPIII" "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 2003-01-29 2014-11-19 22821 ENSG00000185989 OTTHUMG00000017399 uc001vui.4 NM_007368 CCDS32016 Q14644 "7637787|9382842" MGI:1197013 RGD:69365 605182 HGNC:20331 "ENST00000334062.8|NM_007368.4" +HGNC:39938 RASA3-IT1 RASA3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q34 13q34 RASA3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-04-13 2015-02-25 2015-02-25 100874321 ENSG00000232487 OTTHUMG00000017400 uc058yoy.1 NR_046544 RASA3-IT1 +HGNC:23181 RASA4 RAS p21 protein activator 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "KIAA0538|CAPRI|GAPL" C2 and RasGAP domain containing 830 2003-12-22 2015-01-28 10156 ENSG00000105808 OTTHUMG00000150383 uc003vae.4 AB011110 NM_006989 "CCDS5725|CCDS47674" O43374 11448776 MGI:1858600 607943 HGNC:23181 "ENST00000262940.12|NM_006989.6" +HGNC:35202 RASA4B RAS p21 protein activator 4B protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 2008-10-24 2018-11-19 100271927 ENSG00000170667 OTTHUMG00000022944 uc003uzu.2 NM_001277335 CCDS59506 C9J798 MGI:1858600 RGD:1565457 HGNC:35202 "ENST00000465829.6|NM_001367767.2" +HGNC:44185 RASA4CP RAS p21 protein activator 4C, pseudogene pseudogene pseudogene Approved 7p13 07p13 2012-06-30 2012-07-04 401331 ENSG00000228903 OTTHUMG00000155354 NR_024116 HGNC:44185 +HGNC:44226 RASA4DP RAS p21 protein activator 4D, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 2012-07-20 2021-07-20 2021-07-20 100133005 ENSG00000233297 OTTHUMG00000157719 NG_011686 HGNC:44226 +HGNC:9873 RASAL1 RAS protein activator like 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 RASAL RAS protein activator like 1 (GAP1 like) "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 1998-11-04 2016-03-11 2016-10-05 8437 ENSG00000111344 OTTHUMG00000169705 uc001tum.3 AF086713 NM_004658 "CCDS9165|CCDS73529|CCDS55888|CCDS55889" O95294 9751798 MGI:1330842 RGD:1311820 604118 HGNC:9873 "ENST00000548055.2|NM_001301202.2" HGNC:9873 +HGNC:9874 RASAL2 RAS protein activator like 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 nGAP "Ras GTPase activating protein-like|Ras protein activator like 1" "Pleckstrin homology domain containing|C2 and RasGAP domain containing" "682|830" 2000-03-06 2016-10-05 9462 ENSG00000075391 OTTHUMG00000035022 uc001glq.4 AF047711 NM_170692 "CCDS1322|CCDS1321" Q9UJF2 9877179 MGI:2443881 RGD:1307566 606136 HGNC:9874 "ENST00000367649.8|NM_170692.4" +HGNC:44170 RASAL2-AS1 RASAL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.2 01q25.2 RASAL2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100302401 ENSG00000224687 OTTHUMG00000040865 uc057noc.1 BC027927 NR_027982 RASAL2-AS1 HGNC:44170 +HGNC:26129 RASAL3 RAS protein activator like 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 FLJ21438 C2 and RasGAP domain containing 830 2008-12-18 2019-03-19 64926 ENSG00000105122 OTTHUMG00000182450 uc002nbe.3 NM_022904 CCDS46006 Q86YV0 "25652366|30271600" MGI:2444128 RGD:1309019 616561 HGNC:26129 "ENST00000343625.12|NM_022904.3" +HGNC:15828 RASD1 ras related dexamethasone induced 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "DEXRAS1|AGS1" "ras-related protein|dexamethasone-induced ras-related protein 1|activator of G protein signaling" RAS, dexamethasone-induced 1 2001-06-15 2016-04-01 2016-04-01 51655 ENSG00000108551 OTTHUMG00000059292 uc002gri.4 AF069506 NM_016084 "CCDS11185|CCDS58519" Q9Y272 10947988 MGI:1270848 RGD:619727 605550 HGNC:15828 "ENST00000225688.4|NM_016084.5" +HGNC:18229 RASD2 RASD family member 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "TEM2|Rhes|MGC:4834" "tumor endothelial marker 2|Ras homolog enriched in striatum" RASD family, member 2 RAS type GTPase family 389 2002-02-21 2015-11-18 2016-10-05 23551 ENSG00000100302 OTTHUMG00000150607 uc003anx.4 AF279143 NM_014310 CCDS13916 Q96D21 "10947988|10467249|14724584" MGI:1922391 RGD:628594 612842 HGNC:18229 "ENST00000216127.5|NM_014310.4" +HGNC:26464 RASEF RAS and EF-hand domain containing protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "FLJ31614|TSG" RAB45 RAB45, member RAS oncogene family "RAB, member RAS oncogene GTPases|EF-hand domain containing" "388|863" 2004-04-29 2004-06-16 2004-06-11 2021-09-16 158158 ENSG00000165105 OTTHUMG00000020100 uc004amo.2 AK056176 NM_152573 CCDS6662 Q8IZ41 "17448446|27724860" MGI:2448565 RGD:1306418 611344 HGNC:26464 "ENST00000376447.4|NM_152573.4" +HGNC:24246 RASGEF1A RasGEF domain family member 1A protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "CG4853|FLJ37817" 2004-02-04 2015-11-09 2015-11-09 221002 ENSG00000198915 OTTHUMG00000018025 uc001jap.3 AK095136 NM_145313 "CCDS60517|CCDS7202" Q8N9B8 19645719 MGI:1917977 RGD:1305836 614531 HGNC:24246 "ENST00000395810.6|NM_145313.4" +HGNC:24881 RASGEF1B RasGEF domain family member 1B protein-coding gene gene with protein product Approved 4q21.21 04q21.21 "GPIG4|FLJ31695" 2004-02-04 2015-11-09 2016-10-25 153020 ENSG00000138670 OTTHUMG00000160890 uc003hmi.2 AK056257 NM_152545 "CCDS34022|CCDS75152|CCDS75151" Q0VAM2 19645719 MGI:2443755 RGD:1562220 614532 HGNC:24881 "ENST00000264400.7|NM_152545.3" +HGNC:27400 RASGEF1C RasGEF domain family member 1C protein-coding gene gene with protein product Approved 5q35.3 05q35.3 FLJ35841 2004-02-04 2015-11-09 2015-11-09 255426 ENSG00000146090 OTTHUMG00000130914 uc003mlr.4 AK093160 NM_175062 CCDS4452 Q8N431 23469100 MGI:1921813 RGD:1311549 HGNC:27400 "ENST00000361132.9|NM_175062.4" +HGNC:9875 RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "CDC25L|CDC25|GRF55|H-GRF55|GNRP|PP13187" CDC25 like (S. cerevisiae) GRF1 "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1994-02-11 2015-11-19 2021-03-09 5923 ENSG00000058335 OTTHUMG00000144172 uc002bep.4 M91815 NM_002891 "CCDS42065|CCDS10309|CCDS45320" Q13972 "7684828|1379731" MGI:99694 RGD:620395 606600 HGNC:9875 "ENST00000558480.7|NM_001145648.3" +HGNC:9876 RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "GRF2|Ras-GRF2" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1996-12-20 2015-11-19 2016-10-05 5924 ENSG00000113319 OTTHUMG00000119015 uc003kha.3 AF023130 NM_006909 CCDS4052 O14827 MGI:109137 RGD:69413 606614 HGNC:9876 "ENST00000265080.9|NM_006909.3" +HGNC:40499 RASGRF2-AS1 RASGRF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 CTC-459I6.1 Antisense RNAs 1987 2014-05-20 2014-05-20 2017-03-15 102524628 ENSG00000251450 OTTHUMG00000162539 BM682385 NR_105015 27565812 RASGRF2-AS1 HGNC:40499 +HGNC:9878 RASGRP1 RAS guanyl releasing protein 1 protein-coding gene gene with protein product Approved 15q14 15q14 "CalDAG-GEFII|RASGRP" calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II RAS guanyl releasing protein 1 (calcium and DAG-regulated) EF-hand domain containing 863 1999-06-02 2016-01-18 2021-12-08 10125 ENSG00000172575 OTTHUMG00000172379 uc001zke.5 AF106071 NM_005739 "CCDS45222|CCDS76733|CCDS45221" O95267 "10087292|9789079" MGI:1314635 RGD:3539 603962 objectId:3016 HGNC:9878 "ENST00000310803.10|NM_005739.4" HGNC:9878 +HGNC:9879 RASGRP2 RAS guanyl releasing protein 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 CALDAG-GEFI calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I RAS guanyl releasing protein 2 (calcium and DAG-regulated) EF-hand domain containing 863 1999-07-21 2016-01-18 2021-05-26 10235 ENSG00000068831 OTTHUMG00000045420 uc009ypw.3 U78170 NM_153819 CCDS31598 Q7LDG7 9789079 MGI:1333849 RGD:1311630 "RASGRP2base: Mutation registry for Leukocyte adhesion deficiency III|http://structure.bmc.lu.se/idbase/RASGRP2base/|LRG_100|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_100.xml" 605577 431588 HGNC:9879 "ENST00000394432.8|NM_001098671.2" HGNC:9879 +HGNC:14545 RASGRP3 RAS guanyl releasing protein 3 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "KIAA0846|GRP3|CalDAG-GEFIII" calcium- and diacylglycerol-regulated guanine nucleotide exchange factor III RAS guanyl releasing protein 3 (calcium and DAG-regulated) EF-hand domain containing 863 2003-06-05 2016-01-18 2016-10-05 25780 ENSG00000152689 OTTHUMG00000152124 uc002rox.4 AB020653 NM_015376 "CCDS46256|CCDS54346" Q8IV61 "10048485|10934204" MGI:3028579 RGD:1304612 609531 HGNC:14545 "ENST00000403687.8|NM_001139488.2" +HGNC:40689 RASGRP3-AS1 RASGRP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 Antisense RNAs 1987 2020-03-19 2020-03-19 105374454 ENSG00000237133 OTTHUMG00000152537 NR_146505 +HGNC:18958 RASGRP4 RAS guanyl releasing protein 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 EF-hand domain containing 863 2002-07-17 2020-04-02 115727 ENSG00000171777 OTTHUMG00000182327 uc010ega.4 AY048119 NM_170604 "CCDS46068|CCDS54264|CCDS59382|CCDS54262|CCDS59383|CCDS59384|CCDS54263" Q8TDF6 11956218 MGI:2386851 RGD:620476 607320 HGNC:18958 "ENST00000615439.5|NM_170604.3" +HGNC:24716 RASIP1 Ras interacting protein 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "FLJ20401|RAIN" 2004-04-05 2020-04-02 54922 ENSG00000105538 OTTHUMG00000183323 uc002pki.4 BC028614 NM_017805 CCDS12731 Q5U651 15031288 MGI:1917153 RGD:1305291 609623 HGNC:24716 "ENST00000222145.9|NM_017805.3" +HGNC:16954 RASL10A RAS like family 10 member A protein-coding gene gene with protein product Approved 22q12.2 22q12.2 RRP22 "RAS-like, family 10, member A|RAS-like family 10 member A" RAS type GTPase family 389 2007-01-15 2016-02-01 2016-02-01 10633 ENSG00000100276 OTTHUMG00000151106 uc003aff.4 Y07847 NM_006477 CCDS13854 Q92737 "8975699|15731001" MGI:1922918 RGD:1306100 602220 HGNC:16954 "ENST00000216101.7|NM_006477.5" +HGNC:30295 RASL10B RAS like family 10 member B protein-coding gene gene with protein product Approved 17q12 17q12 "VTS58635|RRP17" "RAS-like, family 10, member B|RAS-like family 10 member B" RAS type GTPase family 389 2004-02-05 2016-02-01 2019-03-19 91608 ENSG00000270885 OTTHUMG00000188385 uc002hju.4 BC041133 NM_033315 CCDS11297 Q96S79 17028781 MGI:2685575 RGD:1310873 612128 HGNC:30295 "ENST00000603017.2|NM_033315.4" +HGNC:23802 RASL11A RAS like family 11 member A protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "RAS-like, family 11, member A|RAS-like family 11 member A" RAS type GTPase family 389 2003-12-11 2016-02-01 2020-04-20 387496 ENSG00000122035 OTTHUMG00000016627 uc001urd.1 AY439004 NM_206827 CCDS9321 Q6T310 15033445 MGI:1916145 RGD:1303231 612403 HGNC:23802 "ENST00000241463.5|NM_206827.2" +HGNC:23804 RASL11B RAS like family 11 member B protein-coding gene gene with protein product Approved 4q12 04q12 "RAS-like, family 11, member B|RAS-like family 11 member B" RAS type GTPase family 389 2003-12-11 2016-02-01 2016-02-01 65997 ENSG00000128045 OTTHUMG00000102097 uc003gzt.4 BK001672 NM_023940 CCDS3490 Q9BPW5 MGI:1916189 RGD:1303099 612404 HGNC:23804 "ENST00000248706.5|NM_023940.3" +HGNC:30289 RASL12 RAS like family 12 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 RIS Ras family member Ris "RAS-like, family 12|RAS-like family 12" RAS type GTPase family 389 2004-02-03 2016-02-01 2016-10-05 51285 ENSG00000103710 OTTHUMG00000133115 uc002aoi.2 AF233588 NM_016563 "CCDS10200|CCDS76769" Q9NYN1 12107412 MGI:1918034 RGD:1306268 HGNC:30289 "ENST00000220062.9|NM_016563.4" +HGNC:9882 RASSF1 Ras association domain family member 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "NORE2A|REH3P21|RDA32|123F2" Ras association (RalGDS/AF-6) domain family member 1 Ras association domain family 1198 2000-05-30 2016-01-29 2016-10-05 11186 ENSG00000068028 OTTHUMG00000149958 uc003dad.2 AF132675 NM_001206957 "CCDS2820|CCDS2822|CCDS2821|CCDS43096" Q9NS23 MGI:1928386 RGD:1359383 605082 HGNC:9882 "ENST00000359365.9|NM_007182.5" +HGNC:49091 RASSF1-AS1 RASSF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.3 03p21.3 ANRASSF1 Antisense RNAs 1987 2013-09-01 2018-09-07 102060282 ENSG00000281358 OTTHUMG00000189572 KC330992 NR_109831 23990798 RASSF1-AS1 HGNC:49091 +HGNC:9883 RASSF2 Ras association domain family member 2 protein-coding gene gene with protein product Approved 20p13 20p13 "KIAA0168|CENP-34" centromere protein 34 Ras association (RalGDS/AF-6) domain family member 2 Ras association domain family 1198 2000-08-22 2016-01-29 2016-01-29 9770 ENSG00000101265 OTTHUMG00000031790 uc002wlf.3 D79990 NM_014737 CCDS13083 P50749 "8724849|15806169" MGI:2442060 RGD:1305551 609492 HGNC:9883 "ENST00000379400.8|NM_014737.3" +HGNC:14271 RASSF3 Ras association domain family member 3 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 Ras association (RalGDS/AF-6) domain family member 3 "Ras association domain family|MicroRNA protein coding host genes" "1198|1691" 2000-12-21 2016-01-29 2016-01-29 283349 ENSG00000153179 OTTHUMG00000168812 uc001ssd.3 NM_178169 CCDS8969 Q86WH2 MGI:2179722 RGD:1311450 607019 HGNC:14271 "ENST00000542104.6|NM_178169.4" +HGNC:55489 RASSF3-DT RASSF3 divergent transcript non-coding RNA RNA, long non-coding Approved 12q14.2 12q14.2 Divergent transcripts 1990 2021-03-12 2021-03-12 105369804 ENSG00000256670 XR_945027 +HGNC:20793 RASSF4 Ras association domain family member 4 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "AD037|MGC44914" Ras association (RalGDS/AF-6) domain family member 4 Ras association domain family 1198 2003-04-24 2016-01-29 2016-10-05 83937 ENSG00000107551 OTTHUMG00000018060 uc001jbo.4 BC032593 NM_032023 CCDS7208 Q9H2L5 MGI:2386853 RGD:1307785 610559 HGNC:20793 "ENST00000340258.10|NM_032023.4" +HGNC:17609 RASSF5 Ras association domain family member 5 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Maxp1|NORE1|RAPL" "novel Ras effector 1|regulator for cell adhesion and polarization enriched in lymphoid tissues" Ras association (RalGDS/AF-6) domain family member 5 Ras association domain family 1198 2003-04-02 2016-01-29 2016-10-05 83593 ENSG00000266094 OTTHUMG00000184616 uc031vlp.2 BC004270 NM_031437 "CCDS1463|CCDS1464|CCDS30998" Q8WWW0 "11978988|11965544|23972470" MGI:1926375 RGD:621694 607020 HGNC:17609 "ENST00000579436.7|NM_182663.4" +HGNC:20796 RASSF6 Ras association domain family member 6 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 Ras association (RalGDS/AF-6) domain family member 6 Ras association domain family 1198 2003-04-24 2016-01-29 2016-10-05 166824 ENSG00000169435 OTTHUMG00000130007 uc003hhd.3 AY217664 NM_177532 "CCDS3559|CCDS58905|CCDS3558|CCDS58904" Q6ZTQ3 MGI:1920496 RGD:1566082 612620 HGNC:20796 "ENST00000307439.10|NM_177532.5" +HGNC:1166 RASSF7 Ras association domain family member 7 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "HRC1|HRAS1|FAP88|CFAP88" C11orf13 "chromosome 11 open reading frame 13|Ras association (RalGDS/AF-6) domain family (N-terminal) member 7" "Ras association domain family|Cilia and flagella associated" "1198|1491" 1998-12-18 2005-09-14 2016-01-29 2020-09-17 8045 ENSG00000099849 OTTHUMG00000132004 uc001lqc.4 M91083 NM_003475 "CCDS7702|CCDS44505|CCDS44506" Q02833 1339391 MGI:1914235 RGD:1306244 143023 HGNC:1166 "ENST00000397583.8|NM_003475.4" +HGNC:13232 RASSF8 Ras association domain family member 8 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 HoJ-1 C12orf2 "chromosome 12 open reading frame 2|Ras association (RalGDS/AF-6) domain family (N-terminal) member 8" Ras association domain family 1198 2001-04-05 2005-09-14 2016-01-29 2016-10-05 11228 ENSG00000123094 OTTHUMG00000169087 uc001rgx.4 U82396 NM_007211 "CCDS8705|CCDS53765" Q8NHQ8 MGI:1918573 RGD:1308820 608231 470956 HGNC:13232 "ENST00000689635.1|NM_001394098.1" +HGNC:48637 RASSF8-AS1 RASSF8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Antisense RNAs 1987 2013-05-30 2017-01-11 2017-01-11 100506451 ENSG00000246695 OTTHUMG00000169126 NR_038227 RASSF8-AS1 HGNC:48637 +HGNC:15739 RASSF9 Ras association domain family member 9 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 P-CIP1 PAMCI "peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor|Ras association (RalGDS/AF-6) domain family (N-terminal) member 9" Ras association domain family 1198 2001-05-23 2008-02-22 2016-01-29 2016-11-10 9182 ENSG00000198774 OTTHUMG00000169831 uc001taf.2 NM_005447 CCDS44950 O75901 "9837933|18272789" MGI:2384307 RGD:621329 610383 HGNC:15739 "ENST00000361228.5|NM_005447.4" +HGNC:33984 RASSF10 Ras association domain family member 10 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor-like Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 Ras association domain family 1198 2008-02-22 2016-01-29 2016-01-29 644943 ENSG00000189431 OTTHUMG00000166184 uc021qdz.2 NM_001080521 CCDS44542 A6NK89 18272789 MGI:1925998 RGD:1309847 614713 HGNC:33984 "ENST00000529419.3|NM_001080521.3" +HGNC:54255 RASSF10-DT RASSF10 divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.3 11p15.3 LINC02738 long intergenic non-protein coding RNA 2738 Divergent transcripts 1990 2019-04-24 2019-05-16 2019-05-16 2019-05-16 105376557 ENSG00000254670 XR_001748137 HGNC:54255 +HGNC:30296 RAVER1 ribonucleoprotein, PTB binding 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 KIAA1978 ribonucleoprotein, PTB-binding 1 RNA binding motif containing 725 2006-03-22 2016-04-06 2016-04-06 125950 ENSG00000161847 OTTHUMG00000180409 uc002moa.4 NM_133452 CCDS45960 Q8IY67 "11853319|11724819" MGI:1919016 RGD:1359190 609950 470958 HGNC:30296 "ENST00000617231.5|NM_133452.3" +HGNC:25577 RAVER2 ribonucleoprotein, PTB binding 2 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "KIAA1579|FLJ10770" ribonucleoprotein, PTB-binding 2 RNA binding motif containing 725 2006-03-22 2016-04-06 2016-04-06 55225 ENSG00000162437 OTTHUMG00000009102 uc001dbs.3 AB046799 NM_018211 CCDS41345 Q9HCJ3 16051233 MGI:2443623 RGD:1307610 609953 HGNC:25577 +HGNC:18662 RAX retina and anterior neural fold homeobox protein-coding gene gene with protein product Approved 18q21.32 18q21.32 RX PRD class homeoboxes and pseudogenes 521 2002-05-22 2016-10-05 30062 ENSG00000134438 OTTHUMG00000132757 uc002lhx.3 AF115392 NM_013435 CCDS11972 Q9Y2V3 "10625658|10766016|14662654" MGI:109632 RGD:620371 601881 8631 160006 HGNC:18662 "ENST00000334889.4|NM_013435.3" HGNC:18662 +HGNC:18286 RAX2 retina and anterior neural fold homeobox 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC15631|ARMD6|CORD11" RAXL1 retina and anterior neural fold homeobox like 1 PRD class homeoboxes and pseudogenes 521 2006-02-09 2007-08-28 2007-08-28 2021-05-26 84839 ENSG00000173976 OTTHUMG00000171148 uc002lyr.4 AY211277 NM_032753 CCDS12112 Q96IS3 LRG_1200|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1200.xml 610362 8557 138702 HGNC:18286 "ENST00000555633.3|NM_001319074.4" HGNC:18286 +HGNC:9884 RB1 RB transcriptional corepressor 1 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "RB|PPP1R130" "prepro-retinoblastoma-associated protein|protein phosphatase 1, regulatory subunit 130" OSRC "osteosarcoma|retinoblastoma 1" Receptor ligands 542 1986-01-01 2016-05-24 2021-05-26 5925 ENSG00000139687 OTTHUMG00000016900 uc001vcb.4 M15400 NM_000321 CCDS31973 P06400 "1857421|15057823" MGI:97874 RGD:3540 "RB1-LSDB|http://rb1-lovd.d-lohmann.de/home.php?select_db=RB1|LRG_517|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_517.xml" RB1 614041 118239 ligandId:5253 HGNC:9884 "ENST00000267163.6|NM_000321.3" HGNC:9884 +HGNC:42778 RB1-DT RB1 divergent transcript non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 ncRNA-RB1 LINC00441 long intergenic non-protein coding RNA 441 Divergent transcripts 1990 2011-08-18 2018-03-23 2018-03-23 2018-03-23 100862704 ENSG00000231473 OTTHUMG00000016896 uc001vca.3 NR_046414 25579178 LINC00441 HGNC:42778 +HGNC:15574 RB1CC1 RB1 inducible coiled-coil 1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "KIAA0203|Cc1|DRAGOU14|FIP200|ATG17|PPP1R131" "200 kDa FAK family kinase-interacting protein|phosphatase 1, regulatory subunit 131" "Protein phosphatase 1 regulatory subunits|Autophagy related" "694|1022" 2001-06-01 2015-11-20 2016-11-01 9821 ENSG00000023287 OTTHUMG00000164268 uc003xre.5 AB059622 NM_014781 "CCDS47856|CCDS34892" Q8TDY2 "11850849|7724523|18443221" MGI:1341850 RGD:1309346 606837 HGNC:15574 "ENST00000025008.10|NM_014781.5" +HGNC:17680 RBAK RB associated KRAB zinc finger protein-coding gene gene with protein product Approved 7p22.1 07p22.1 ZNF769 Zinc fingers C2H2-type 28 2006-08-14 2016-02-12 2021-04-27 57786 ENSG00000146587 OTTHUMG00000121155 uc003sns.1 AF226869 NM_021163 CCDS5337 Q9NYW8 MGI:1927369 RGD:1562875 608191 HGNC:17680 "ENST00000396912.2|NM_021163.4" +HGNC:42971 RBAK-RBAKDN RBAK-RBAKDN readthrough other readthrough Approved 7p22.1 07p22.1 2013-05-20 2016-11-09 100533952 ENSG00000272968 OTTHUMG00000186010 NM_001204513 MGI:1927369 HGNC:42971 +HGNC:33770 RBAKDN RBAK downstream neighbor non-coding RNA RNA, long non-coding Approved 7p22.1 07p22.1 RBAK downstream neighbor (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-20 2018-05-16 2022-03-23 389458 ENSG00000273313 OTTHUMG00000186012 BC031661 NR_015343 A6NC62 RBAKDN HGNC:33770 +HGNC:9887 RBBP4 RB binding protein 4, chromatin remodeling factor protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "RbAp48|NURF55|lin-53" "retinoblastoma-binding protein 4|retinoblastoma binding protein 4" "WD repeat domain containing|EMSY complex|NuRD complex subunits|SIN3 histone deacetylase complex subunits|Polycomb repressive complex 2|NURF complex" "362|1243|1305|1306|1347|1363" 1995-05-05 2016-05-25 2016-05-25 5928 ENSG00000162521 OTTHUMG00000007998 uc001bvr.3 BC053904 NM_005610 "CCDS366|CCDS44105|CCDS44106" Q09028 "8350924|14609955|17531812" MGI:1194912 RGD:1593768 602923 HGNC:9887 "ENST00000373493.10|NM_005610.3" +HGNC:42368 RBBP4P1 RBBP4 pseudogene 1 pseudogene pseudogene Approved 5p15.2 05p15.2 "retinoblastoma binding protein 4 pseudogene 1|RB binding protein 4 pseudogene 1" 2011-07-05 2018-10-08 2018-10-08 642954 ENSG00000249485 OTTHUMG00000161817 NG_008273 PGOHUM00000235127 HGNC:42368 +HGNC:42369 RBBP4P2 RBBP4 pseudogene 2 pseudogene pseudogene Approved 3q11.2 03q11.2 "retinoblastoma binding protein 4 pseudogene 2|RB binding protein 4 pseudogene 2" 2011-07-05 2018-10-08 2018-10-08 100420527 ENSG00000242457 OTTHUMG00000159011 NG_025601 PGOHUM00000237685 HGNC:42369 +HGNC:42370 RBBP4P3 RBBP4 pseudogene 3 pseudogene pseudogene Approved 6q11.1 06q11.1 "retinoblastoma binding protein 4 pseudogene 3|RB binding protein 4 pseudogene 3" 2011-07-05 2018-10-08 2018-10-08 730180 ENSG00000276290 OTTHUMG00000188337 NG_022302 PGOHUM00000301404 HGNC:42370 +HGNC:42371 RBBP4P4 RBBP4 pseudogene 4 pseudogene pseudogene Approved 6p11.2 06p11.2 "retinoblastoma binding protein 4 pseudogene 4|RB binding protein 4 pseudogene 4" 2011-07-05 2018-10-08 2018-10-08 727842 ENSG00000214561 OTTHUMG00000014931 NG_022304 PGOHUM00000243222 HGNC:42371 +HGNC:42372 RBBP4P5 RBBP4 pseudogene 5 pseudogene pseudogene Approved 14q11.2 14q11.2 "retinoblastoma binding protein 4 pseudogene 5|RB binding protein 4 pseudogene 5" 2011-07-05 2018-10-08 2018-10-08 100288451 ENSG00000256737 OTTHUMG00000168828 NG_022854 PGOHUM00000248048 HGNC:42372 +HGNC:42373 RBBP4P6 RBBP4 pseudogene 6 pseudogene pseudogene Approved 5q14.3 05q14.3 "retinoblastoma binding protein 4 pseudogene 6|RB binding protein 4 pseudogene 6" 2011-07-05 2018-10-08 2018-10-08 100820741 ENSG00000248674 OTTHUMG00000162572 NG_030512 PGOHUM00000235304 HGNC:42373 +HGNC:9888 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "RBQ3|SWD1" SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae) "retinoblastoma-binding protein 5|retinoblastoma binding protein 5" "WD repeat domain containing|WRAD complex" "362|1558" 1995-05-30 2016-05-25 2016-10-05 5929 ENSG00000117222 OTTHUMG00000037104 uc001hbu.3 BC053856 NM_005057 "CCDS53463|CCDS30983" Q15291 7558034 MGI:1918367 RGD:1305532 600697 HGNC:9888 "ENST00000264515.11|NM_005057.4" +HGNC:9889 RBBP6 RB binding protein 6, ubiquitin ligase protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "P2P-R|PACT|SNAMA" proliferation potential-related protein "retinoblastoma-binding protein 6|retinoblastoma binding protein 6" Ring finger proteins 58 1995-08-17 2016-05-25 2017-12-01 5930 ENSG00000122257 OTTHUMG00000096991 uc002dmh.4 NM_006910 "CCDS45444|CCDS10621|CCDS10622" Q7Z6E9 "8595913|16396680|18851979" MGI:894835 RGD:1311964 600938 6.3.2.- HGNC:9889 "ENST00000319715.10|NM_006910.5" +HGNC:45108 RBBP6P1 RBBP6 pseudogene 1 pseudogene pseudogene Approved 10q22.3 10q22.3 "retinoblastoma binding protein 6 pseudogene 1|RB binding protein 6 pseudogene 1" 2013-02-15 2018-10-08 2018-10-08 100129156 NG_022184 PGOHUM00000238849 HGNC:45108 +HGNC:9890 RBBP7 RB binding protein 7, chromatin remodeling factor protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 RbAp46 "G1/S transition control protein-binding protein RbAp46|retinoblastoma-binding protein 7|retinoblastoma-binding protein RbAp46|histone acetyltransferase type B subunit 2|retinoblastoma-binding protein p46" "retinoblastoma-binding protein 7|retinoblastoma binding protein 7|RB binding protein 7" "WD repeat domain containing|EMSY complex|NuRD complex subunits|SIN3 histone deacetylase complex subunits|Polycomb repressive complex 2|NURF complex" "362|1243|1305|1306|1347|1363" 1998-01-23 2016-05-25 2016-10-05 5931 ENSG00000102054 OTTHUMG00000021198 uc004cxt.4 U35143 NM_002893 "CCDS56598|CCDS14179" Q16576 7503932 MGI:1194910 RGD:620125 300825 HGNC:9890 "ENST00000380087.7|NM_002893.4" +HGNC:9891 RBBP8 RB binding protein 8, endonuclease protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "CtIP|RIM|COM1" CTBP-interacting protein SCKL2 "retinoblastoma-binding protein 8|Seckel syndrome 2|retinoblastoma binding protein 8" "BRCA1 C complex|MicroRNA protein coding host genes" "1336|1691" 1998-02-12 2016-05-25 2016-05-25 5932 ENSG00000101773 OTTHUMG00000131769 uc002ktw.4 AF043431 NM_203291 "CCDS11874|CCDS11875" Q99708 "9721205|17965729|21998596" MGI:2442995 RGD:1308872 604124 292698 3.1.-.- HGNC:9891 "ENST00000327155.10|NM_002894.3" HGNC:9891 +HGNC:16144 RBBP8NL RBBP8 N-terminal like protein-coding gene gene with protein product Approved 20q13.33 20q13.33 dJ908M14.3 hypothetical protein LOC140893 C20orf151 chromosome 20 open reading frame 151 2001-07-17 2012-10-30 2012-10-30 2012-10-30 140893 ENSG00000130701 OTTHUMG00000032913 uc002ycw.3 AL121832 NM_080833 CCDS13498 Q8NC74 11780052 MGI:3606212 RGD:1596090 HGNC:16144 "ENST00000252998.2|NM_080833.3" +HGNC:39583 RBBP8P1 RBBP8 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 "retinoblastoma binding protein 8 pseudogene 1|RB binding protein 8 pseudogene 1" 2011-03-15 2018-10-08 2018-10-08 100420552 ENSG00000230399 OTTHUMG00000022255 NG_026754 PGOHUM00000263337 HGNC:39583 +HGNC:39584 RBBP8P2 RBBP8 pseudogene 2 pseudogene pseudogene Approved 13q12.13 13q12.13 "retinoblastoma binding protein 8 pseudogene 2|RB binding protein 8 pseudogene 2" 2011-03-15 2018-10-08 2018-10-08 100420607 NG_024906 PGOHUM00000248550 HGNC:39584 +HGNC:9892 RBBP9 RB binding protein 9, serine hydrolase protein-coding gene gene with protein product Approved 20p11.23 20p11.23 Bog "retinoblastoma-binding protein 9|retinoblastoma binding protein 9" 1998-09-22 2016-05-25 2016-10-05 10741 ENSG00000089050 OTTHUMG00000031972 uc002wqy.5 AF039564 NM_006606 CCDS13136 O75884 "9697699|10449909|20080647" MGI:1347074 RGD:3542 602908 objectId:2874 HGNC:9892 "ENST00000337227.9|NM_006606.3" +HGNC:15864 RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 protein-coding gene gene with protein product Approved 20p13 20p13 "RBCK2|XAP4|RNF54|ZRANB4|UBCE7IP3|HOIL1" heme-oxidized IRP2 ubiquitin ligase 1 C20orf18 "chromosome 20 open reading frame 18|RanBP-type and C3HC4-type zinc finger containing 1" "Ring finger proteins|Zinc fingers RANBP2-type |Linear ubiquitin chain assembly complex |RBR E3 ubiquitin ligases" "58|89|1390|1391" 2001-06-21 2006-06-28 2016-02-12 2021-04-13 10616 ENSG00000125826 OTTHUMG00000031634 uc002wdp.5 U67322 NM_031229 "CCDS12998|CCDS82588|CCDS82587|CCDS13000" Q9BYM8 MGI:1344372 RGD:708404 LRG_728|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_728.xml 610924 331658 HGNC:15864 "ENST00000356286.10|NM_031229.4" HGNC:15864 +HGNC:26120 RBFA ribosome binding factor A protein-coding gene gene with protein product Approved 18q23 18q23 "FLJ21172|HsT169" C18orf22 "chromosome 18 open reading frame 22|ribosome binding factor A (putative)" 2004-05-05 2010-10-21 2017-09-14 2017-09-14 79863 ENSG00000101546 OTTHUMG00000132923 uc002lns.4 BC014195 NM_024805 "CCDS54194|CCDS12021" Q8N0V3 28512204 MGI:1915981 RGD:1311910 HGNC:26120 "ENST00000306735.10|NM_024805.3" +HGNC:48591 RBFADN RBFA downstream neighbor non-coding RNA RNA, long non-coding Approved 18q23 18q23 RBFA downstream neighbor (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-21 2018-05-16 2018-05-16 100506070 ENSG00000261126 NR_103445 RBFADN HGNC:48591 +HGNC:18222 RBFOX1 RNA binding fox-1 homolog 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "A2BP1|FOX-1|HRNBP1" "ataxin 2-binding protein 1|hexaribonucleotide binding protein 1" "RNA binding protein, fox-1 homolog (C. elegans) 1|RNA binding protein, fox-1 homolog 1" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2010-09-10 2017-09-13 2017-09-13 54715 ENSG00000078328 OTTHUMG00000129551 uc002cyy.3 AF107203 NM_145891 "CCDS55984|CCDS45405|CCDS10531|CCDS10532|CCDS55983|CCDS76818" Q9NWB1 "10814712|16260614" MGI:1926224 RGD:1311210 605104 470960 HGNC:18222 "ENST00000550418.6|NM_018723.4" HGNC:18222 +HGNC:9906 RBFOX2 RNA binding fox-1 homolog 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "HNRBP2|FOX-2|HRNBP2" hexaribonucleotide binding protein 2 RBM9 "RNA binding motif protein 9|RNA binding protein, fox-1 homolog (C. elegans) 2|RNA binding protein, fox-1 homolog 2" RNA binding motif containing 725 1999-10-12 2010-09-10 2017-09-13 2017-09-13 23543 ENSG00000100320 OTTHUMG00000150585 uc003aok.5 AL009266 NM_001031695 "CCDS46699|CCDS43013|CCDS13921|CCDS46700|CCDS46701" O43251 MGI:1933973 RGD:1311838 612149 470962 HGNC:9906 +HGNC:27097 RBFOX3 RNA binding fox-1 homolog 3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FOX-3|NeuN|HRNBP3" "neuronal nuclei|hexaribonucleotide binding protein 3" "RNA binding protein, fox-1 homolog (C. elegans) 3|RNA binding protein, fox-1 homolog 3" RNA binding motif containing 725 2010-09-10 2017-09-13 2017-09-13 146713 ENSG00000167281 OTTHUMG00000150183 uc010dhs.5 NM_001082575 CCDS45805 A6NFN3 16260614 MGI:106368 RGD:1560070 616999 HGNC:27097 "ENST00000693108.1|NM_001350451.2" HGNC:27097 +HGNC:32235 RBIS ribosomal biogenesis factor protein-coding gene gene with protein product Approved 8q21.2 08q21.2 ribosome biogenesis factor identified in screen C8orf59 chromosome 8 open reading frame 59 Ribosomal biogenesis factors 1729 2005-09-05 2019-02-18 2019-02-18 2019-02-18 401466 ENSG00000176731 OTTHUMG00000164787 uc033brx.2 BC032347 NM_001099670 "CCDS78351|CCDS55255" Q8N0T1 "26711351|23973377" MGI:1916376 RGD:1565641 HGNC:32235 "ENST00000619594.5|NM_001099673.3" +HGNC:51355 RBISP1 RBIS pseudogene 1 pseudogene pseudogene Approved 10p13 10p13 C8orf59P1 chromosome 8 open reading frame 59 pseudogene 1 2014-10-15 2019-03-01 2019-03-01 2019-03-01 106481719 ENSG00000226209 OTTHUMG00000187414 NG_043371 HGNC:51355 +HGNC:51357 RBISP2 RBIS pseudogene 2 pseudogene pseudogene Approved 5p13.2 05p13.2 C8orf59P2 chromosome 8 open reading frame 59 pseudogene 2 2014-10-15 2019-03-01 2019-03-01 2019-03-01 106480687 ENSG00000271378 OTTHUMG00000184568 NG_032772 PGOHUM00000300928 HGNC:51357 +HGNC:30325 RBKS ribokinase protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "DKFZp686G13268|RBSK" 2004-01-12 2016-10-05 64080 ENSG00000171174 OTTHUMG00000097833 uc002rlo.3 BC017425 NM_022128 CCDS1762 Q9H477 8382990 MGI:1918586 RGD:1310064 611132 2.7.1.15 HGNC:30325 "ENST00000302188.8|NM_022128.3" +HGNC:9893 RBL1 RB transcriptional corepressor like 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "p107|cp107|PRB1" retinoblastoma-like 1 1994-01-07 2016-05-24 2016-05-24 5933 ENSG00000080839 OTTHUMG00000032406 uc002xgi.5 L14812 NM_002895 "CCDS13289|CCDS13290" P28749 1833063 MGI:103300 RGD:1595511 116957 HGNC:9893 "ENST00000373664.8|NM_002895.5" +HGNC:9894 RBL2 RB transcriptional corepressor like 2 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "Rb2|p130" retinoblastoma-like 2 1994-01-17 2016-05-24 2016-05-24 5934 ENSG00000103479 OTTHUMG00000133198 uc002ehi.5 X74594 NM_005611 CCDS10748 Q08999 "8361765|8643454" MGI:105085 RGD:3541 180203 HGNC:9894 "ENST00000262133.11|NM_005611.4" HGNC:9894 +HGNC:9900 RBM3 RNA binding motif protein 3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 IS1-RNPL RNA binding motif containing 725 1995-08-29 2017-09-15 2017-12-06 5935 ENSG00000102317 OTTHUMG00000024121 uc004dkf.3 BC006825 NM_006743 CCDS14301 P98179 8634703 MGI:1099460 RGD:620145 300027 HGNC:9900 "ENST00000376759.8|NM_006743.5" +HGNC:9901 RBM4 RNA binding motif protein 4 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "LARK|RBM4A|ZCRB3A|ZCCHC21" "Zinc fingers CCHC-type|RNA binding motif containing" "74|725" 1997-12-23 2016-10-05 5936 ENSG00000173933 OTTHUMG00000154171 uc001oiw.3 U89505 NM_002896 "CCDS55776|CCDS55777|CCDS41676" Q9BWF3 "9169144|16260624" MGI:1100865 RGD:1306891 602571 HGNC:9901 "ENST00000310092.12|NM_002896.4" +HGNC:28842 RBM4B RNA binding motif protein 4B protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "MGC10871|ZCCHC15|RBM4L|ZCRB3B|ZCCHC21B" RBM30 RNA binding motif protein 30 "Zinc fingers CCHC-type|RNA binding motif containing" "74|725" 2004-08-19 2006-01-25 2006-01-25 2020-04-02 83759 ENSG00000173914 OTTHUMG00000167243 uc001ojb.5 AK095158 NM_031492 "CCDS66144|CCDS8149" Q9BQ04 18708123 MGI:1913954 RGD:1359343 HGNC:28842 "ENST00000310046.9|NM_031492.4" +HGNC:9902 RBM5 RNA binding motif protein 5 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LUCA15|LUCA-15|H37" "Zinc fingers RANBP2-type |G-patch domain containing|RNA binding motif containing|Spliceosomal A complex" "89|579|725|1504" 1998-09-30 2018-10-16 10181 ENSG00000003756 OTTHUMG00000156785 uc003cyg.4 U23946 NM_005778 CCDS2810 P52756 "10352938|23935508" MGI:1933204 RGD:1305059 606884 HGNC:9902 "ENST00000347869.8|NM_005778.4" +HGNC:48871 RBM5-AS1 RBM5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 LUST LUCA-15-specific transcript Antisense RNAs 1987 2013-06-15 2016-11-24 100775107 ENSG00000281691 OTTHUMG00000189567 EF470865 NR_045388 "10949932|19559772" LUST RBM5-AS1 HGNC:48871 +HGNC:9903 RBM6 RNA binding motif protein 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "DEF-3|3G2|NY-LU-12|g16|DEF3" "G-patch domain containing|RNA binding motif containing" "579|725" 1998-09-30 2016-10-05 10180 ENSG00000004534 OTTHUMG00000156736 uc003cyc.4 AF069517 NM_005777 "CCDS54586|CCDS2809" P78332 10352938 MGI:1338037 RGD:1560367 606886 HGNC:9903 "ENST00000266022.9|NM_005777.3" +HGNC:9904 RBM7 RNA binding motif protein 7 protein-coding gene gene with protein product Approved 11q23.1-q23.2 11q23.1-q23.2 "RNA binding motif containing|Nuclear exosome targeting complex" "725|1316" 1998-10-01 2015-06-04 10179 ENSG00000076053 OTTHUMG00000168270 uc001pov.5 AF156098 NM_016090 "CCDS8370|CCDS73395|CCDS66233" Q9Y580 25852104 MGI:1914260 RGD:1308017 612413 HGNC:9904 "ENST00000375490.10|NM_001286045.2" +HGNC:54704 RBM7P1 RBM7 pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2019-12-05 2019-12-05 100420108 ENSG00000223427 NG_023576 +HGNC:9905 RBM8A RNA binding motif protein 8A protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "ZNRP|BOV-1A|BOV-1B|BOV-1C|RBM8B|Y14" binder of OVCA1 RBM8 "RNA binding motif containing|Exon junction complex|Spliceosomal P complex" "725|1238|1516" 1999-05-05 2021-04-13 9939 ENSG00000265241 OTTHUMG00000013736 uc031uto.3 AF127761 NM_005105 CCDS72872 Q9Y5S9 "11004516|11013075" MGI:1913129 RGD:1310099 LRG_574|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_574.xml 605313 296697 HGNC:9905 "ENST00000583313.7|NM_005105.5" HGNC:9905 +HGNC:13426 RBM8B RNA binding motif protein 8B pseudogene pseudogene pseudogene Approved 14q23.1 14q23.1 2000-10-23 2013-06-10 112846 ENSG00000258427 OTTHUMG00000171184 AF403013 NG_002415 11013075 PGOHUM00000261853 HGNC:13426 +HGNC:9896 RBM10 RNA binding motif protein 10 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "DXS8237E|KIAA0122|GPATC9|ZRANB5|GPATCH9|S1-1" "Zinc fingers RANBP2-type |G-patch domain containing|RNA binding motif containing|Spliceosomal A complex" "89|579|725|1504" 2000-02-21 2020-04-02 8241 ENSG00000182872 OTTHUMG00000021432 uc004dhf.4 U35373 NM_005676 "CCDS78478|CCDS14274|CCDS56600|CCDS75969" P98175 "8590280|8808293|8760884" MGI:2384310 RGD:631366 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RBM10 RBM10 300080 233025 HGNC:9896 "ENST00000377604.8|NM_005676.5" HGNC:9896 +HGNC:9897 RBM11 RNA binding motif protein 11 protein-coding gene gene with protein product Approved 21q11.2 21q11.2 RNA binding motif containing 725 2000-05-23 2016-10-05 54033 ENSG00000185272 OTTHUMG00000074263 uc002yjo.5 AF130358 NM_144770 CCDS46635 P57052 12036298 MGI:2447622 RGD:1305195 617937 HGNC:9897 "ENST00000400577.4|NM_144770.5" +HGNC:43743 RBM11P1 RNA binding motif protein 11 pseudogene 1 pseudogene pseudogene Approved 6q23.2 06q23.2 2012-02-20 2014-05-12 100420213 ENSG00000271488 OTTHUMG00000184398 NG_025978 PGOHUM00000243780 HGNC:43743 +HGNC:9898 RBM12 RNA binding motif protein 12 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "HRIHFB2091|KIAA0765|SWAN" RNA binding motif containing 725 2000-06-28 2018-03-26 10137 ENSG00000244462 OTTHUMG00000032350 uc002xdr.4 AJ289772 NM_006047 CCDS13261 Q9NTZ6 "11435693|28628109" MGI:1922960 RGD:1594333 607179 HGNC:9898 "ENST00000374114.8|NM_006047.6" +HGNC:32310 RBM12B RNA binding motif protein 12B protein-coding gene gene with protein product Approved 8q22.1 08q22.1 RNA binding motif containing 725 2005-09-27 2016-10-05 389677 ENSG00000183808 OTTHUMG00000164317 uc003yfz.5 NM_203390 CCDS43755 Q8IXT5 "MGI:1919647|MGI:1924854" RGD:1307658 HGNC:32310 "ENST00000520560.6|NM_001377960.1" +HGNC:28818 RBM12B-AS1 RBM12B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 PRO1905 C8orf39 "chromosome 8 open reading frame 39|RBM12B antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-07-27 2012-04-11 2012-08-15 2015-02-09 55472 ENSG00000279331 OTTHUMG00000187194 uc011lgj.2 AF116672 NR_027259 Q9P1G2 RBM12B-AS1 HGNC:28818 +HGNC:55529 RBM12B-DT RBM12B divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 Divergent transcripts 1990 2021-03-22 2021-03-22 2021-03-22 2021-03-22 105375645 ENSG00000253848 XR_928420 +HGNC:14219 RBM14 RNA binding motif protein 14 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "SIP|SYTIP1|COAA|DKFZp779J0927" "coactivator activator|SYT interacting protein" RNA binding motif containing 725 2001-02-06 2014-11-19 10432 ENSG00000239306 OTTHUMG00000140380 uc001oit.4 AF080561 NM_006328 "CCDS8147|CCDS55772|CCDS55773" Q96PK6 9285794 MGI:1929092 RGD:620542 612409 HGNC:14219 "ENST00000310137.5|NM_006328.4" +HGNC:38840 RBM14-RBM4 RBM14-RBM4 readthrough other readthrough Approved 11q13.2 11q13.2 2011-02-21 2014-11-19 100526737 ENSG00000248643 OTTHUMG00000160813 uc009yrk.4 NM_001198845.1 CCDS55774 MGI:1929092 HGNC:38840 +HGNC:14959 RBM15 RNA binding motif protein 15 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "OTT|OTT1" one twenty-two "RNA binding motif containing|WTAP complex" "725|1420" 2001-05-10 2016-10-05 64783 ENSG00000162775 OTTHUMG00000011284 uc021orn.2 AF368063 NM_022768 "CCDS59198|CCDS822" Q96T37 "11431691|11344311" MGI:2443205 RGD:1592713 RBM15 606077 409871 HGNC:14959 "ENST00000369784.9|NM_022768.5" +HGNC:53636 RBM15-AS1 RBM15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 AS-RBM15 Antisense RNAs 1987 2017-08-23 2017-08-23 440600 ENSG00000227963 OTTHUMG00000011283 NR_036595 27118388 HGNC:53636 +HGNC:24303 RBM15B RNA binding motif protein 15B protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "HUMAGCGB|OTT3" RNA binding motif containing 725 2004-11-10 2016-10-05 29890 ENSG00000259956 OTTHUMG00000156896 uc003dbd.4 AL831838 NM_013286 CCDS33764 Q8NDT2 16129689 MGI:1923598 RGD:1305937 612602 HGNC:24303 "ENST00000563281.2|NM_013286.5" +HGNC:16944 RBM17 RNA binding motif protein 17 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "SPF45|MGC14439" splicing factor 45kDa "G-patch domain containing|RNA binding motif containing|Spliceosomal A complex" "579|725|1504" 2004-01-30 2014-11-19 84991 ENSG00000134453 OTTHUMG00000017618 uc010qav.3 AF083384 NM_032905 CCDS7077 Q96I25 9731529 MGI:1924188 RGD:1311208 606935 HGNC:16944 "ENST00000379888.9|NM_032905.5" +HGNC:50366 RBM17P1 RNA binding motif protein 17 pseudogene 1 pseudogene pseudogene Approved 9p12 09p12 2014-04-24 2016-10-05 100133330 ENSG00000226625 OTTHUMG00000019952 NG_009948 PGOHUM00000236464 HGNC:50366 +HGNC:50367 RBM17P2 RNA binding motif protein 17 pseudogene 2 pseudogene pseudogene Approved 9q21.11 09q21.11 2014-04-24 2015-02-09 642389 ENSG00000273999 OTTHUMG00000188267 NG_009950 PGOHUM00000303923 HGNC:50367 +HGNC:50368 RBM17P3 RNA binding motif protein 17 pseudogene 3 pseudogene pseudogene Approved 9p11.2 09p11.2 2014-04-24 2014-04-24 100132949 ENSG00000237207 OTTHUMG00000058637 NG_009949 PGOHUM00000236092 HGNC:50368 +HGNC:50369 RBM17P4 RNA binding motif protein 17 pseudogene 4 pseudogene pseudogene Approved 15q14 15q14 2014-04-24 2014-04-24 100128974 ENSG00000259585 OTTHUMG00000172344 NG_009947 PGOHUM00000264436 HGNC:50369 +HGNC:28413 RBM18 RNA binding motif protein 18 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 MGC2734 RNA binding motif containing 725 2004-02-09 2016-10-05 92400 ENSG00000119446 OTTHUMG00000020602 uc004bma.3 AK057676 NM_033117 CCDS6839 Q96H35 12477932 MGI:1915139 RGD:1307411 HGNC:28413 "ENST00000417201.4|NM_033117.4" +HGNC:29098 RBM19 RNA binding motif protein 19 protein-coding gene gene with protein product Approved 12q24.13-q24.21 12q24.13-q24.21 "DKFZp586F1023|KIAA0682|Mrd1" "RNA binding motif containing|SSU processome" "725|1484" 2004-03-02 2018-02-13 9904 ENSG00000122965 OTTHUMG00000169646 uc009zwi.3 AL117547 NM_016196 CCDS9172 Q9Y4C8 "9734811|11230166" MGI:1921361 RGD:1308928 616444 HGNC:29098 "ENST00000261741.10|NM_016196.4" +HGNC:27424 RBM20 RNA binding motif protein 20 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 RNA binding motif containing 725 2004-04-07 2021-05-26 282996 ENSG00000203867 OTTHUMG00000019043 uc001kzf.2 BX648563 NM_001134363 CCDS44477 Q5T481 MGI:1920963 RGD:1307427 LRG_382|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_382.xml 613171 218040 HGNC:27424 "ENST00000369519.4|NM_001134363.3" HGNC:27424 +HGNC:25503 RBM22 RNA binding motif protein 22 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "FLJ10290|ZC3H16|fSAP47|Cwc2" functional spliceosome-associated protein 47 "Zinc fingers CCCH-type|RNA binding motif containing|NTC associated proteins|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "73|725|1498|1507|1508|1510|1516" 2004-04-23 2014-11-19 55696 ENSG00000086589 OTTHUMG00000163589 uc003lst.4 AL136933 NM_018047 CCDS34278 Q9NW64 "20013661|19133299" MGI:1914060 RGD:1305770 612430 HGNC:25503 "ENST00000199814.9|NM_018047.3" +HGNC:31466 RBM22P1 RNA binding motif protein 22 pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 2004-04-23 2015-03-06 400645 ENSG00000265097 OTTHUMG00000179592 NG_023396 PGOHUM00000294639 HGNC:31466 +HGNC:39695 RBM22P2 RNA binding motif protein 22 pseudogene 2 pseudogene pseudogene Approved 13q12.3 13q12.3 2011-03-23 2015-03-06 100271871 ENSG00000213411 OTTHUMG00000016672 NG_011578 PGOHUM00000291911 HGNC:39695 +HGNC:39696 RBM22P3 RNA binding motif protein 22 pseudogene 3 pseudogene pseudogene Approved 7p11.2 07p11.2 2011-03-23 2015-03-06 100128867 ENSG00000226485 OTTHUMG00000156300 NG_009406 PGOHUM00000302654 HGNC:39696 +HGNC:39697 RBM22P4 RNA binding motif protein 22 pseudogene 4 pseudogene pseudogene Approved 6p21.1 06p21.1 2011-03-23 2015-03-06 100271870 ENSG00000277769 OTTHUMG00000187623 NG_011575 PGOHUM00000301802 HGNC:39697 +HGNC:39698 RBM22P5 RNA binding motif protein 22 pseudogene 5 pseudogene pseudogene Approved 9q21.13 09q21.13 2011-03-23 2015-03-06 100133206 ENSG00000231137 OTTHUMG00000020038 NG_029445 PGOHUM00000303939 HGNC:39698 +HGNC:39699 RBM22P6 RNA binding motif protein 22 pseudogene 6 pseudogene pseudogene Approved Xp11.22 Xp11.22 RBM22P10 RNA binding motif protein 22 pseudogene 10 2011-03-23 2015-03-03 644509 ENSG00000275643 OTTHUMG00000188635 NG_011579 PGOHUM00000304624 HGNC:39699 +HGNC:39700 RBM22P7 RNA binding motif protein 22 pseudogene 7 pseudogene pseudogene Approved Xp11.22 Xp11.22 RBM22P9 RNA binding motif protein 22 pseudogene 9 2011-03-23 2015-03-06 106478953 ENSG00000223395 OTTHUMG00000021556 NG_043751 PGOHUM00000305070 HGNC:39700 +HGNC:39704 RBM22P11 RNA binding motif protein 22 pseudogene 11 pseudogene pseudogene Approved Xp11.22 Xp11.22 RBM22P8 RNA binding motif protein 22 pseudogene 8 2011-03-23 2015-03-06 100132115 NG_011615 PGOHUM00000305071 HGNC:39704 +HGNC:49207 RBM22P12 RNA binding motif protein 22 pseudogene 12 pseudogene pseudogene Approved 16p11.2 16p11.2 2013-10-08 2015-03-06 100131641 ENSG00000260631 OTTHUMG00000154500 NG_011573 PGOHUM00000293783 HGNC:49207 +HGNC:49208 RBM22P13 RNA binding motif protein 22 pseudogene 13 pseudogene pseudogene Approved 16p11.2 16p11.2 2013-10-08 2015-03-06 2015-03-06 100130603 ENSG00000261284 OTTHUMG00000176533 NG_011574 PGOHUM00000293787 HGNC:49208 +HGNC:20155 RBM23 RNA binding motif protein 23 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "FLJ10482|CAPERbeta" coactivator of activating protein-1 and estrogen receptors beta RNPC4 RNA-binding region (RNP1, RRM) containing 4 RNA binding motif containing 725 2002-12-18 2004-04-23 2004-04-23 2016-10-25 55147 ENSG00000100461 OTTHUMG00000171467 uc001whg.4 AF275678 NM_001077351 "CCDS41921|CCDS76658|CCDS41919|CCDS41920" Q86U06 15694343 RGD:6496028 HGNC:20155 "ENST00000359890.8|NM_001077351.2" +HGNC:21539 RBM24 RNA binding motif protein 24 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "FLJ30829|dJ259A10.1" RNPC6 RNA-binding region (RNP1, RRM) containing 6 RNA binding motif containing 725 2003-06-24 2004-04-23 2004-04-23 2015-08-26 221662 ENSG00000112183 OTTHUMG00000014306 uc003nbz.5 BC040928 NM_153020 "CCDS4538|CCDS47378|CCDS47379" Q9BX46 MGI:3610364 RGD:1584029 617603 HGNC:21539 "ENST00000379052.10|NM_001143942.2" +HGNC:23244 RBM25 RNA binding motif protein 25 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "S164|fSAP94|NET52|Snu71" functional spliceosome-associated protein 94 RNPC7 RNA-binding region (RNP1, RRM) containing 7 "RNA binding motif containing|Spliceosomal A complex" "725|1504" 2003-12-09 2004-04-29 2004-04-23 2018-11-19 58517 ENSG00000119707 OTTHUMG00000167540 uc001xno.4 BX647116 NM_021239 CCDS32113 P49756 "9847074|7596406" MGI:1914289 RGD:1308755 612427 HGNC:23244 "ENST00000261973.12|NM_021239.3" +HGNC:55437 RBM25-AS1 RBM25 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 Antisense RNAs 1987 2021-01-14 2021-01-14 105370560 ENSG00000258813 XR_007064261 +HGNC:20327 RBM26 RNA binding motif protein 26 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 "PRO1777|SE70-2|FLJ20957|ZC3H17|ARRS2|PPP1R132" "acidic rich RS domain containing 2|protein phosphatase 1, regulatory 132" C13orf10 chromosome 13 open reading frame 10 "Zinc fingers CCCH-type|Protein phosphatase 1 regulatory subunits|RNA binding motif containing" "73|694|725" 2003-01-24 2006-06-22 2006-06-22 2020-04-20 64062 ENSG00000139746 OTTHUMG00000017133 uc001vky.4 AF116667 NM_022118 "CCDS73591|CCDS9462|CCDS66566" Q5T8P6 "11149944|15741184" MGI:1921463 RGD:1308297 HGNC:20327 "ENST00000438737.3|NM_001366735.2" +HGNC:39805 RBM26-AS1 RBM26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q31.1 13q31.1 RBM26 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-29 2012-08-15 2014-11-19 100505538 ENSG00000227354 OTTHUMG00000017131 uc001vle.4 BC034812 NR_038991 RBM26-AS1 HGNC:39805 +HGNC:29243 RBM27 RNA binding motif protein 27 protein-coding gene gene with protein product Approved 5q32 05q32 "KIAA1311|ARRS1|Psc1|ZC3H20" acidic rich RS domain containing 1 "Zinc fingers CCCH-type|RNA binding motif containing" "73|725" 2004-04-23 2018-11-19 54439 ENSG00000091009 OTTHUMG00000163436 uc003lnz.5 AL833706 NM_018989 CCDS43378 Q9P2N5 "10718198|15741184" MGI:2147194 RGD:1311966 HGNC:29243 "ENST00000265271.7|NM_018989.2" +HGNC:21863 RBM28 RNA binding motif protein 28 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 FLJ10377 RNA binding motif containing 725 2004-06-03 2016-10-05 55131 ENSG00000106344 OTTHUMG00000157711 uc031szb.2 AK001239 NM_018077 "CCDS5801|CCDS55159" Q9NW13 MGI:2655711 RGD:1311336 612074 159449 HGNC:21863 "ENST00000223073.6|NM_018077.3" HGNC:21863 +HGNC:27223 RBM33 RNA binding motif protein 33 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "DKFZp686F102|MGC20460|DKFZp434D1319" PRR8 proline rich 8 RNA binding motif containing 725 2005-04-19 2015-08-25 155435 ENSG00000184863 OTTHUMG00000150260 uc010lqk.2 AL832196 NM_001008408 CCDS5941 Q96EV2 MGI:1919670 RGD:1310651 HGNC:27223 "ENST00000401878.8|NM_053043.3" +HGNC:56024 RBM33-DT RBM33 divergent transcript non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Divergent transcripts 1990 2021-12-02 2021-12-02 100506302 ENSG00000216895 NR_126344 +HGNC:28965 RBM34 RNA binding motif protein 34 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 KIAA0117 RNA binding motif containing 725 2005-06-01 2016-04-25 23029 ENSG00000188739 OTTHUMG00000039620 uc001hwn.3 NM_015014 CCDS41477 P42696 "7788527|15134903" MGI:1098653 RGD:1310161 HGNC:28965 "ENST00000408888.8|NM_015014.4" +HGNC:15818 RBM38 RNA binding motif protein 38 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "HSRNASEB|SEB4D|seb4B|dJ800J21.2" RNPC1 RNA-binding region (RNP1, RRM) containing 1 RNA binding motif containing 725 2001-09-17 2006-07-11 2006-07-11 2014-11-19 55544 ENSG00000132819 OTTHUMG00000032820 uc010zzj.3 X75314 NM_183425 "CCDS46617|CCDS46618" Q9H0Z9 MGI:1889294 RGD:1308503 612428 HGNC:15818 "ENST00000356208.10|NM_017495.6" +HGNC:40725 RBM38-AS1 RBM38 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.31 20q13.31 Antisense RNAs 1987 2020-03-19 2020-03-19 100291105 ENSG00000218018 OTTHUMG00000134335 NR_149006 +HGNC:15923 RBM39 RNA binding motif protein 39 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "CC1.3|HCC1|CAPER|fSAP59|CAPERalpha" "coactivator of activating protein-1 and estrogen receptors|functional spliceosome-associated protein 59" RNPC2 RNA-binding region (RNP1, RRM) containing 2 RNA binding motif containing 725 2001-06-21 2006-07-11 2006-07-11 2014-11-19 9584 ENSG00000131051 OTTHUMG00000032358 uc002xeb.4 L10910 NM_184237 "CCDS13266|CCDS56186|CCDS13265" Q14498 "8227358|15694343|21551269" MGI:2157953 RGD:1310071 604739 HGNC:15923 "ENST00000253363.11|NM_184234.3" +HGNC:54942 RBM39P1 RBM39 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-04-30 2020-04-30 643167 ENSG00000214019 NG_022658 +HGNC:25617 RBM41 RNA binding motif protein 41 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 FLJ11016 RNA binding motif containing 725 2006-07-11 2020-04-02 55285 ENSG00000089682 OTTHUMG00000022156 uc004emz.5 BC006986 NM_018301 "CCDS14526|CCDS55472" Q96IZ5 12477932 MGI:2444923 RGD:1590579 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RBM41 HGNC:25617 "ENST00000685964.1|NM_001324242.2" +HGNC:28117 RBM42 RNA binding motif protein 42 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 MGC10433 "RNA binding motif containing|tri-snRP complex" "725|1506" 2007-05-01 2020-04-02 79171 ENSG00000126254 OTTHUMG00000182063 uc002oan.4 BC004204 NM_024321 CCDS12468 Q9BTD8 "19170760|23437009" MGI:1915285 RGD:1306184 613232 HGNC:28117 "ENST00000262633.9|NM_024321.5" +HGNC:24790 RBM43 RNA binding motif protein 43 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 FLJ45645 C2orf38 chromosome 2 open reading frame 38 RNA binding motif containing 725 2006-05-08 2007-01-30 2007-01-30 2014-11-18 375287 ENSG00000184898 OTTHUMG00000131866 uc002txh.4 AK127552 NM_198557 CCDS2191 Q6ZSC3 MGI:1918934 RGD:1306676 HGNC:24790 "ENST00000331426.6|NM_198557.3" +HGNC:46024 RBM43P1 RNA binding motif protein 43 pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 2013-03-19 2013-03-19 100131568 ENSG00000239263 OTTHUMG00000158769 NG_009048 PGOHUM00000237645 HGNC:46024 +HGNC:24756 RBM44 RNA binding motif protein 44 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 FLJ40411 RNA binding motif containing 725 2007-06-20 2014-11-19 375316 ENSG00000177483 OTTHUMG00000152937 uc002vxi.5 AK097730 NM_001080504 CCDS46554 Q6ZP01 MGI:2685663 RGD:1566074 HGNC:24756 "ENST00000316997.9|NM_001080504.3" +HGNC:24468 RBM45 RNA binding motif protein 45 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "DRB1|FLJ44612" developmentally regulated RNA binding protein 1 RNA binding motif containing 725 2007-07-26 2014-11-19 129831 ENSG00000155636 OTTHUMG00000154202 uc002ulv.4 AF526533 NM_152945 CCDS33335 Q8IUH3 12220514 MGI:2387367 RGD:628862 608888 HGNC:24468 "ENST00000286070.10|NM_152945.4" +HGNC:28401 RBM46 RNA binding motif protein 46 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "MGC27016|CT68" cancer/testis antigen 68 RNA binding motif containing 725 2007-10-24 2019-03-19 166863 ENSG00000151962 OTTHUMG00000161543 uc003ioo.5 BC028588 NM_144979 "CCDS64085|CCDS64086|CCDS3790" Q8TBY0 28212427 MGI:3645057 RGD:1560205 HGNC:28401 "ENST00000281722.8|NM_144979.5" +HGNC:30358 RBM47 RNA binding motif protein 47 protein-coding gene gene with protein product Approved 4p14 04p14 "FLJ20273|NET18" "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2007-10-25 2014-11-18 54502 ENSG00000163694 OTTHUMG00000128598 uc003gvd.3 AK000280 NM_019027 "CCDS3460|CCDS43223" A0AV96 MGI:2384294 RGD:1359713 619104 HGNC:30358 "ENST00000295971.12|NM_001098634.2" +HGNC:21785 RBM48 RNA binding motif protein 48 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "DKFZp564O0523|HSPC304" C7orf64 chromosome 7 open reading frame 64 RNA binding motif containing 725 2008-08-11 2011-12-09 2011-12-09 2022-01-10 84060 ENSG00000127993 OTTHUMG00000159535 uc003ulz.4 AL136619 NM_032120 CCDS43615 Q5RL73 33509932 MGI:2442653 RGD:1310794 HGNC:21785 "ENST00000265732.10|NM_032120.4" +HGNC:44054 RBM48P1 RNA binding motif protein 48 pseudogene 1 pseudogene pseudogene Approved 4q28.1 04q28.1 2012-05-30 2012-05-30 132817 ENSG00000223620 OTTHUMG00000161147 NG_022076 PGOHUM00000259956 HGNC:44054 +HGNC:9907 RBMS1 RNA binding motif single stranded interacting protein 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "SCR2|MSSP-1|MSSP-2|MSSP-3|YC1|HCC-4|DKFZp564H0764" "suppressor of cdc 2 (cdc13) with RNA binding motif 2|c-myc gene single strand binding protein 2" C2orf12 chromosome 2 open reading frame 12 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 1998-02-27 2016-04-14 2016-04-14 5937 ENSG00000153250 OTTHUMG00000132031 uc002ubo.4 D28482 NM_016836 CCDS2213 P29558 "8041632|8134115|7838710" MGI:1861774 RGD:1307777 602310 HGNC:9907 "ENST00000348849.8|NM_016836.4" +HGNC:9908 RBMS1P1 RNA binding motif single stranded interacting protein 1 pseudogene 1 pseudogene pseudogene Approved 12q14.3 12q14.3 MSSP1 RBMS1P RNA binding motif, single stranded interacting protein 1, pseudogene 1998-02-27 2010-03-04 2016-04-14 2016-04-14 5938 ENSG00000225422 D82351 NG_000866 8871567 PGOHUM00000239501 HGNC:9908 +HGNC:9909 RBMS2 RNA binding motif single stranded interacting protein 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 SCR3 RNA binding motif containing 725 1998-02-27 2016-04-14 2016-10-05 5939 ENSG00000076067 OTTHUMG00000170488 uc001sln.3 D28483 NM_002898 CCDS8923 Q15434 8041632 MGI:1861776 RGD:1304813 602387 HGNC:9909 "ENST00000262031.10|NM_002898.4" +HGNC:30994 RBMS2P1 RNA binding motif single stranded interacting protein 2 pseudogene 1 pseudogene pseudogene Approved 12q22 12q22 RBMS2P "RNA binding motif, single stranded interacting protein 2 pseudogene|RNA binding motif, single stranded interacting protein 2 pseudogene 1" 2007-08-17 2010-03-05 2016-04-14 2016-04-14 643427 ENSG00000213250 OTTHUMG00000165432 NG_008697 PGOHUM00000239547 HGNC:30994 +HGNC:13427 RBMS3 RNA binding motif single stranded interacting protein 3 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 RNA-binding protein "RNA binding motif, single stranded interacting protein|RNA binding motif, single stranded interacting protein 3" RNA binding motif containing 725 2001-06-25 2016-04-14 2016-10-05 27303 ENSG00000144642 OTTHUMG00000155699 uc003cek.4 AF023259 NM_001003792 "CCDS54557|CCDS33726|CCDS87056|CCDS33725|CCDS33724|CCDS54558" Q6XE24 10675610 MGI:2444477 RGD:1588240 605786 HGNC:13427 "ENST00000383767.7|NM_001003793.3" +HGNC:39987 RBMS3-AS1 RBMS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 RBMS3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873977 ENSG00000235593 OTTHUMG00000155691 uc062hsw.1 NR_046556 RBMS3-AS1 HGNC:39987 +HGNC:39988 RBMS3-AS2 RBMS3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 RBMS3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873978 ENSG00000203506 OTTHUMG00000155692 uc062hsm.1 NR_046557 RBMS3-AS2 HGNC:39988 +HGNC:39989 RBMS3-AS3 RBMS3 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3p24.1 03p24.1 RBMS3 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873979 ENSG00000235904 OTTHUMG00000155693 uc062hsg.1 NR_109804 RBMS3-AS3 HGNC:39989 +HGNC:9910 RBMX RNA binding motif protein X-linked protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "RNMX|hnRNP-G|HNRNPG" heterogeneous nuclear ribonucleoprotein G RNA binding motif protein, X chromosome "RNA binding motif containing|Small nucleolar RNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins" "725|1835|1950" 2000-01-31 2018-04-26 2020-04-02 27316 ENSG00000147274 OTTHUMG00000022517 uc011mwf.2 NM_002139 "CCDS55510|CCDS14661" P38159 "10391206|10391207|25256757" MGI:1343044 RGD:1565256 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RBMX 300199 470964 HGNC:9910 "ENST00000320676.11|NM_002139.4" HGNC:9910 +HGNC:24282 RBMX2 RNA binding motif protein X-linked 2 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "CGI-79|Snu17" RNA binding motif containing 725 2004-06-02 2018-04-26 2018-04-26 51634 ENSG00000134597 OTTHUMG00000022395 uc004evt.3 AF078865 NM_016024 CCDS43993 Q9Y388 10810093 MGI:1919414 RGD:1562693 HGNC:24282 "ENST00000305536.11|NM_016024.4" +HGNC:39923 RBMX2P1 RBMX2 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 RNA binding motif protein, X-linked 2 pseudogene 1 2011-04-12 2018-04-26 2018-04-26 100128341 ENSG00000226406 OTTHUMG00000074320 NG_021989 PGOHUM00000239035 HGNC:39923 +HGNC:39924 RBMX2P2 RBMX2 pseudogene 2 pseudogene pseudogene Approved Xq27.2 Xq27.2 RNA binding motif protein, X-linked 2 pseudogene 2 2011-04-12 2018-04-26 2018-04-26 100132808 ENSG00000213423 OTTHUMG00000022557 NG_022644 PGOHUM00000241577 HGNC:39924 +HGNC:39925 RBMX2P3 RBMX2 pseudogene 3 pseudogene pseudogene Approved 1p12 01p12 RNA binding motif protein, X-linked 2 pseudogene 3 2011-04-12 2018-04-26 2018-04-26 100421047 ENSG00000223575 OTTHUMG00000012340 NG_026974 PGOHUM00000244162 HGNC:39925 +HGNC:39926 RBMX2P4 RBMX2 pseudogene 4 pseudogene pseudogene Approved 7p21.3 07p21.3 RNA binding motif protein, X-linked 2 pseudogene 4 2011-04-12 2018-04-26 2018-04-26 100862677 ENSG00000230879 OTTHUMG00000152351 NG_032115 HGNC:39926 +HGNC:39927 RBMX2P5 RBMX2 pseudogene 5 pseudogene pseudogene Approved 5q14.1 05q14.1 RNA binding motif protein, X-linked 2 pseudogene 5 2011-04-12 2018-04-26 2018-04-26 391804 ENSG00000227087 OTTHUMG00000162532 NG_028951 PGOHUM00000251320 HGNC:39927 +HGNC:25073 RBMXL1 RBMX like 1 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 KAT3 kynurenine aminotransferase III RNA binding motif protein, X-linked like 1 RNA binding motif containing 725 2005-06-02 2007-01-04 2018-04-26 2018-04-26 494115 ENSG00000213516 OTTHUMG00000010661 uc009wcx.4 BC012942 NM_019610 CCDS716 Q96E39 10441733 MGI:1343045 RGD:1306751 HGNC:25073 "ENST00000652648.1|NM_001162536.3" +HGNC:17886 RBMXL2 RBMX like 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "HNRNPG-T|HNRPGT" heterogeneous nuclear ribonucleoprotein G T RNA binding motif protein, X-linked like 2 RNA binding motif containing 725 2007-07-13 2018-04-26 2020-04-02 27288 ENSG00000170748 OTTHUMG00000165509 uc001mfc.3 AF069682 NM_014469 CCDS7777 O75526 10958650 MGI:1923822 RGD:1598286 605444 HGNC:17886 "ENST00000306904.7|NM_014469.5" +HGNC:26859 RBMXL3 RBMX like 3 protein-coding gene gene with protein product Approved Xq23 Xq23 FLJ40249 CXorf55 "chromosome X open reading frame 55|RNA binding motif protein, X-linked like 3" RNA binding motif containing 725 2006-02-06 2009-03-24 2018-04-26 2018-04-26 139804 ENSG00000175718 OTTHUMG00000022230 uc011mte.2 AK097568 NM_001145346 CCDS55478 Q8N7X1 MGI:1923822 HGNC:26859 "ENST00000424776.5|NM_001145346.2" +HGNC:9911 RBMXP1 RBMX pseudogene 1 pseudogene pseudogene Approved 6p12.3 06p12.3 HNRNP-G HNRPG "RNA binding motif protein, X chromosome pseudogene 1|RNA binding motif protein, X-linked pseudogene 1" 1992-08-26 2018-04-26 2019-09-13 3186 ENSG00000216835 OTTHUMG00000014807 NG_001022 "1551662|10391206" PGOHUM00000243181 HGNC:9911 +HGNC:23284 RBMXP2 RBMX pseudogene 2 pseudogene pseudogene Approved 9p21.1 09p21.1 RNA binding motif protein, X-linked pseudogene 2 2006-09-21 2018-04-26 2018-04-26 441391 ENSG00000215210 OTTHUMG00000019727 NG_004760 PGOHUM00000236424 HGNC:23284 +HGNC:33949 RBMXP3 RBMX pseudogene 3 pseudogene pseudogene Approved 11q14.1 11q14.1 RNA binding motif protein, X-linked pseudogene 3 2008-01-23 2018-04-26 2020-04-03 143543 ENSG00000255063 OTTHUMG00000166897 NR_002197 PGOHUM00000242821 HGNC:33949 +HGNC:34028 RBMXP4 RBMX pseudogene 4 pseudogene pseudogene Approved 4q25 04q25 RNA binding motif protein, X-linked pseudogene 4 2008-03-17 2018-04-26 2018-04-26 100132580 ENSG00000249465 OTTHUMG00000161038 XR_037807 PGOHUM00000245652 HGNC:34028 +HGNC:54979 RBMXP5 RBMX pseudogene 5 pseudogene pseudogene Approved Xq12 Xq12 2020-05-14 2020-05-14 100288788 ENSG00000217835 NG_022607 +HGNC:9912 RBMY1A1 RNA binding motif protein Y-linked family 1 member A1 protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 "YRRM1|YRRM2" "RBM1|RBM2" "RNA binding motif protein, Y chromosome, family 1, member A1|RNA binding motif protein, Y-linked, family 1, member A1" RNA binding motif containing 725 1994-12-15 2019-07-30 2019-07-30 5940 ENSG00000234414 OTTHUMG00000043592 uc065cui.1 NM_005058 CCDS14796 P0DJD3 "8269511|9598316" "MGI:104732|MGI:3781554" 400006 168351 HGNC:9912 "ENST00000382707.6|NM_005058.4" +HGNC:18849 RBMY1A3P RNA binding motif protein Y-linked family 1 member A3, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 "RNA binding motif protein, Y chromosome, family 1, member A3 pseudogene|RNA binding motif protein, Y-linked, family 1, member A3 pseudogene" 2002-07-22 2019-07-30 2019-07-30 286557 ENSG00000197038 OTTHUMG00000041536 NR_001547 PGOHUM00000261003 HGNC:18849 +HGNC:23914 RBMY1B RNA binding motif protein Y-linked family 1 member B protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 1, member B RNA binding motif containing 725 2004-12-10 2019-07-30 2019-07-30 378948 ENSG00000242875 OTTHUMG00000042045 uc004fuo.4 NM_001006121 CCDS35479 A6NDE4 12815422 "MGI:104732|MGI:3781554|MGI:3782239|MGI:5435048|MGI:5435063" HGNC:23914 "ENST00000383020.7|NM_001006121.4" +HGNC:9914 RBMY1C RNA binding motif protein Y-linked family 1 member C protein-coding gene gene with protein product Approved Yq11.23 not on reference assembly Yq11.23 not on reference assembly "RNA binding motif protein, Y chromosome, family 1, member C|RNA binding motif protein, Y-linked, family 1, member C" RNA binding motif containing 725 1998-06-04 2019-07-30 2019-07-30 5942 P0DJD4 9598316 +HGNC:23915 RBMY1D RNA binding motif protein Y-linked family 1 member D protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 1, member D RNA binding motif containing 725 2004-12-10 2019-07-30 2019-07-30 378949 ENSG00000244395 OTTHUMG00000043598 uc004fuu.3 NM_001006120 "CCDS83521|CCDS35480" P0C7P1 12815422 "MGI:104732|MGI:3781554|MGI:3782239|MGI:5435048|MGI:5435063" HGNC:23915 "ENST00000382680.5|NM_001006120.3" +HGNC:23916 RBMY1E RNA binding motif protein Y-linked family 1 member E protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 1, member E RNA binding motif containing 725 2004-12-10 2019-07-30 2019-07-30 378950 ENSG00000242389 OTTHUMG00000043602 uc004fuw.4 NM_001006118 CCDS35481 A6NEQ0 12815422 "MGI:104732|MGI:3781554|MGI:3782239|MGI:5435048|MGI:5435063" HGNC:23916 "ENST00000382659.7|NM_001006118.3" +HGNC:23974 RBMY1F RNA binding motif protein Y-linked family 1 member F protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 MGC33094 RNA binding motif protein, Y-linked, family 1, member F RNA binding motif containing 725 2004-12-10 2019-07-30 2019-07-30 159163 ENSG00000169800 OTTHUMG00000043593 uc004fva.4 BC030018 NM_152585 CCDS35483 Q15415 12815422 HGNC:23974 "ENST00000303766.12|NM_152585.3" +HGNC:9915 RBMY1GP RNA binding motif protein Y-linked family 1 member G, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 RBMY1G "RNA binding motif protein, Y chromosome, family 1, member G|RNA binding motif protein, Y-linked, family 1, member G, pseudogene" 1998-06-04 2019-07-30 2019-07-30 100287769 NG_027927 PGOHUM00000249978 HGNC:9915 +HGNC:9916 RBMY1HP RNA binding motif protein Y-linked family 1 member H, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RBMY1H "RNA binding motif protein, Y chromosome, family 1, member H|RNA binding motif protein, Y-linked, family 1, member H|RNA binding motif protein, Y-linked, family 1, member H, pseudogene" 1998-06-04 2011-09-15 2019-07-30 2021-10-07 5944 ENSG00000169811 OTTHUMG00000042043 NG_004832 9598316 PGOHUM00000261063 HGNC:9916 +HGNC:23917 RBMY1J RNA binding motif protein Y-linked family 1 member J protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 1, member J RNA binding motif containing 725 2004-12-10 2019-07-30 2019-07-30 378951 ENSG00000226941 OTTHUMG00000043594 uc004fvd.4 NM_001006117 CCDS35484 Q15415 12815422 "MGI:104732|MGI:3781554|MGI:3782239|MGI:5435048|MGI:5435063" RGD:9125062 HGNC:23917 +HGNC:38750 RBMY1KP RNA binding motif protein Y-linked family 1 member K, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RBMY1K RNA binding motif protein, Y-linked, family 1, member K, pseudogene 2010-08-03 2019-07-30 2019-07-30 100874497 ENSG00000229234 OTTHUMG00000043585 NG_029412 PGOHUM00000234024 HGNC:38750 +HGNC:9917 RBMY2AP RNA binding motif protein Y-linked family 2 member A, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RBMY2A "RNA binding motif protein, Y-linked, family 2, member A|RNA binding motif protein, Y-linked, family 2, member A pseudogene" 1998-06-04 2003-11-03 2019-07-30 2019-07-30 5945 ENSG00000226092 OTTHUMG00000043606 NG_003064 "9598316|12815422" PGOHUM00000233805 HGNC:9917 +HGNC:9918 RBMY2BP RNA binding motif protein Y-linked family 2 member B, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RBMY2B "RNA binding motif protein, Y-linked, family 2, member B|RNA binding motif protein, Y-linked, family 2, member B pseudogene" 1998-06-04 2003-11-05 2019-07-30 2021-10-07 375850 ENSG00000224657 OTTHUMG00000043855 NG_004755 "9598316|12815422" HGNC:9918 +HGNC:23260 RBMY2CP RNA binding motif protein Y-linked family 2 member C, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 2, member C pseudogene 2003-11-03 2019-07-30 2019-07-30 140123 ENSG00000215540 OTTHUMG00000044057 NG_003042 12815422 PGOHUM00000249970 HGNC:23260 +HGNC:23259 RBMY2DP RNA binding motif protein Y-linked family 2 member D, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 RNA binding motif protein, Y-linked, family 2, member D pseudogene 2003-11-03 2019-07-30 2019-07-30 347598 ENSG00000215507 OTTHUMG00000045283 NG_003043 12815422 HGNC:23259 +HGNC:23890 RBMY2EP RNA binding motif protein Y-linked family 2 member E, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 2, member E pseudogene 2004-12-03 2019-07-30 2019-07-30 159125 ENSG00000223637 OTTHUMG00000042038 U94388 NR_001574 "12815422|9344660" PGOHUM00000305531 HGNC:23890 +HGNC:23891 RBMY2FP RNA binding motif protein Y-linked family 2 member F, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 MGC26641 RNA binding motif protein, Y-linked, family 2, member F pseudogene 2004-12-03 2019-07-30 2019-07-30 159162 ENSG00000243040 OTTHUMG00000043589 U94387 NR_002193 12815422 HGNC:23891 +HGNC:23892 RBMY2GP RNA binding motif protein Y-linked family 2 member G, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 RNA binding motif protein, Y-linked, family 2, member G pseudogene 2004-12-03 2019-07-30 2019-07-30 378952 ENSG00000223744 OTTHUMG00000040954 NG_003081 12815422 HGNC:23892 +HGNC:23893 RBMY2HP RNA binding motif protein Y-linked family 2 member H, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 RNA binding motif protein, Y-linked, family 2, member H pseudogene 2004-12-03 2019-07-30 2019-07-30 378953 ENSG00000238073 OTTHUMG00000041010 NG_003082 12815422 PGOHUM00000233681 HGNC:23893 +HGNC:23918 RBMY2JP RNA binding motif protein Y-linked family 2 member J, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 RNA binding motif protein, Y-linked, family 2, member J pseudogene 2004-12-03 2019-07-30 2019-07-30 378955 ENSG00000227204 OTTHUMG00000041057 NG_003083 12815422 HGNC:23918 +HGNC:23888 RBMY2KP RNA binding motif protein Y-linked family 2 member K, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 RNA binding motif protein, Y-linked, family 2, member K pseudogene 2004-12-03 2019-07-30 2019-07-30 140100 ENSG00000225809 OTTHUMG00000041263 NG_003074 12815422 HGNC:23888 +HGNC:23889 RBMY2MP RNA binding motif protein Y-linked family 2 member M, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 RNA binding motif protein, Y-linked, family 2, member M pseudogene 2004-12-03 2019-07-30 2019-07-30 140101 NG_003075 12815422 HGNC:23889 +HGNC:23919 RBMY2NP RNA binding motif protein Y-linked family 2 member N, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 RNA binding motif protein, Y-linked, family 2, member N pseudogene 2004-12-10 2019-07-30 2019-07-30 378956 ENSG00000229208 OTTHUMG00000041598 NG_003084 12815422 PGOHUM00000233717 HGNC:23919 +HGNC:23894 RBMY2OP RNA binding motif protein Y-linked family 2 member O, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 RNA binding motif protein, Y-linked, family 2, member O pseudogene 2004-12-10 2019-07-30 2019-07-30 379005 ENSG00000234950 OTTHUMG00000041596 NG_003085 12815422 HGNC:23894 +HGNC:23895 RBMY2QP RNA binding motif protein Y-linked family 2 member Q, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 RNA binding motif protein, Y-linked, family 2, member Q pseudogene 2004-12-10 2019-07-30 2019-07-30 379006 ENSG00000236718 OTTHUMG00000041600 NG_003086 12815422 HGNC:23895 +HGNC:23896 RBMY2SP RNA binding motif protein Y-linked family 2 member S, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 2, member S pseudogene 2004-12-10 2019-07-30 2019-07-30 379007 NG_003087 12815422 HGNC:23896 +HGNC:23897 RBMY2TP RNA binding motif protein Y-linked family 2 member T, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 2, member T pseudogene 2004-12-10 2019-07-30 2019-07-30 379008 ENSG00000237269 OTTHUMG00000042040 NG_003088 12815422 HGNC:23897 +HGNC:23898 RBMY2UP RNA binding motif protein Y-linked family 2 member U, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 2, member U pseudogene 2004-12-10 2019-07-30 2019-07-30 379009 ENSG00000225615 OTTHUMG00000043584 NG_003089 12815422 HGNC:23898 +HGNC:23899 RBMY2VP RNA binding motif protein Y-linked family 2 member V, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 2, member V pseudogene 2004-12-10 2019-07-30 2019-07-30 379010 NG_003090 12815422 HGNC:23899 +HGNC:23900 RBMY2WP RNA binding motif protein Y-linked family 2 member W, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 RNA binding motif protein, Y-linked, family 2, member W pseudogene 2004-12-10 2019-07-30 2019-07-30 379011 ENSG00000230727 OTTHUMG00000043850 NG_003091 12815422 HGNC:23900 +HGNC:23901 RBMY2XP RNA binding motif protein Y-linked family 2 member X, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 RNA binding motif protein, Y-linked, family 2, member X pseudogene 2004-12-10 2019-07-30 2019-07-30 379012 ENSG00000234399 OTTHUMG00000045103 NG_003092 12815422 HGNC:23901 +HGNC:23902 RBMY2YP RNA binding motif protein Y-linked family 2 member Y, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 RNA binding motif protein, Y-linked, family 2, member Y pseudogene 2004-12-10 2019-07-30 2019-07-30 379024 ENSG00000227633 OTTHUMG00000045208 NG_003070 12815422 HGNC:23902 +HGNC:23286 RBMY3AP RNA binding motif protein Y-linked family 3 member A, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 "SPATA14|RBMY4P|RBMY3P" RNA binding motif protein, Y-linked, family 3, member A pseudogene 2003-11-21 2019-07-30 2019-07-30 64593 ENSG00000231436 OTTHUMG00000041525 U94386 NR_001573 12815422 HGNC:23286 +HGNC:9919 RBP1 retinol binding protein 1 protein-coding gene gene with protein product Approved 3q23 03q23 "CRABP-I|CRBP1|CRBP|RBPC|CRBPI" cellular retinol binding protein 1 retinol-binding protein 1, cellular Fatty acid binding protein family 550 1986-01-01 2015-12-04 2016-10-05 5947 ENSG00000114115 OTTHUMG00000155751 uc003eti.2 NM_002899 "CCDS46926|CCDS46925|CCDS3110" P09455 "1654334|9858824" MGI:97876 RGD:3543 180260 objectId:2546 HGNC:9919 "ENST00000672186.1|NM_002899.5" +HGNC:9920 RBP2 retinol binding protein 2 protein-coding gene gene with protein product Approved 3q23 03q23 "CRBP2|RBPC2|CRBPII|CRABP-II" retinol-binding protein 2, cellular Fatty acid binding protein family 550 1986-01-01 2015-12-04 2015-12-04 5948 ENSG00000114113 OTTHUMG00000159956 uc003eth.4 U13831 NM_004164 CCDS3109 P50120 "7657783|10072590" MGI:97877 RGD:3544 180280 objectId:2547 HGNC:9920 "ENST00000232217.6|NM_004164.3" +HGNC:9921 RBP3 retinol binding protein 3 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "D10S64|D10S65|D10S66|RP66" interstitial retinol-binding protein 3 retinol-binding protein 3, interstitial 1986-01-01 2015-12-04 2016-10-05 5949 ENSG00000265203 OTTHUMG00000188321 uc001jez.3 M22453 NM_002900 CCDS73119 P10745 MGI:97878 RGD:3545 180290 288959 S41.950 objectId:2548 HGNC:9921 "ENST00000584701.2|NM_002900.3" HGNC:9921 +HGNC:9922 RBP4 retinol binding protein 4 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 retinol-binding protein 4, plasma Lipocalins 631 2001-06-22 2015-12-04 2015-12-04 5950 ENSG00000138207 OTTHUMG00000018773 uc057uxf.1 BC020633 NM_006744 "CCDS31249|CCDS81488" P02753 MGI:97879 RGD:3546 180250 356203 objectId:2549 HGNC:9922 "ENST00000371464.8|NM_006744.4" HGNC:9922 +HGNC:15847 RBP5 retinol binding protein 5 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 CRBPIII retinol-binding protein 5, cellular Fatty acid binding protein family 550 2001-10-03 2015-12-04 2015-12-04 83758 ENSG00000139194 OTTHUMG00000168165 uc001qsq.4 AY007436 NM_031491 CCDS8574 P82980 11274389 611866 objectId:2550 HGNC:15847 "ENST00000266560.8|NM_031491.4" +HGNC:30316 RBP7 retinol binding protein 7 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 CRBPIV cellular retinol binding protein 7 retinol binding protein 7, cellular Fatty acid binding protein family 550 2004-03-17 2015-12-04 2015-12-04 116362 ENSG00000162444 OTTHUMG00000001798 uc001aqq.4 AF399927 NM_052960 CCDS109 Q96R05 12177003 MGI:1890409 RGD:1562168 608604 objectId:2551 HGNC:30316 "ENST00000294435.8|NM_052960.3" +HGNC:5724 RBPJ recombination signal binding protein for immunoglobulin kappa J region protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "SUH|IGKJRB|RBPJK|KBF2|RBP-J|CBF1" suppressor of hairless homolog (Drosophila) "IGKJRB1|RBPSUH" recombining binding protein suppressor of hairless (Drosophila) "PTF1 complex|IPT domain containing" "1608|1752" 1993-04-23 2007-02-26 2007-02-26 2016-04-06 3516 ENSG00000168214 OTTHUMG00000097793 uc003grx.3 L07872 NM_015874 "CCDS3437|CCDS87214|CCDS43219|CCDS33969" Q06330 "8406481|9290259|16354684" MGI:96522 RGD:1593096 147183 310406 HGNC:5724 "ENST00000355476.8|NM_015874.6" HGNC:5724 +HGNC:13761 RBPJL recombination signal binding protein for immunoglobulin kappa J region like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "RBP-L|SUH|SUHL" RBPSUHL "recombining binding protein suppressor of hairless (Drosophila)-like|recombination signal binding protein for immunoglobulin kappa J region-like" PTF1 complex 1608 2000-12-14 2007-02-26 2016-04-06 2016-04-06 11317 ENSG00000124232 OTTHUMG00000033055 uc002xns.5 AB024964 NM_014276 "CCDS63284|CCDS63283|CCDS13349" Q9UBG7 9929984 MGI:1196616 RGD:1304786 616104 HGNC:13761 "ENST00000343694.8|NM_014276.4" +HGNC:5725 RBPJP1 RBPJ pseudogene 1 pseudogene pseudogene Approved 9p13-p12 09p13-p12 "IGKJRBP1|RBPSUHP1" recombining binding protein suppressor of hairless (Drosophila) pseudogene 1 1993-04-23 2007-02-26 2007-02-26 2009-10-26 100310842 L07873 NG_013295 "8406481|9290259" +HGNC:5726 RBPJP2 RBPJ pseudogene 2 pseudogene pseudogene Approved 9q21.11 09q21.11 "IGKJRBP2|RBPSUHP2" recombining binding protein suppressor of hairless (Drosophila) pseudogene 2 1993-04-23 2007-02-26 2007-02-26 2016-10-05 3517 ENSG00000274181 OTTHUMG00000188564 NG_001151 "8406481|9290259" PGOHUM00000304299 HGNC:5726 +HGNC:13686 RBPJP3 RBPJ pseudogene 3 pseudogene pseudogene Approved 9p13 09p13 K2 RBPSUHP3 recombining binding protein suppressor of hairless (Drosophila) pseudogene 3 2000-09-28 2007-02-26 2007-02-26 2009-10-26 58164 L34543 NG_001292 7873751 +HGNC:13687 RBPJP4 RBPJ pseudogene 4 pseudogene pseudogene Approved 9q13 09q13 K7 RBPSUHP4 "recombining binding protein suppressor of hairless (Drosophila) pseudogene 4|rec" 2000-09-28 2007-02-26 2007-02-26 2009-10-26 58163 L34544 NG_001291 7873751 +HGNC:37485 RBPJP5 RBPJ pseudogene 5 pseudogene pseudogene Approved 9p12 09p12 2009-10-26 2009-10-26 100288841 ENSG00000232239 OTTHUMG00000058627 BX664615 NG_013296 HGNC:37485 +HGNC:37486 RBPJP6 RBPJ pseudogene 6 pseudogene pseudogene Approved 9p11.1 09p11.1 2009-10-26 2016-10-05 643198 ENSG00000227924 OTTHUMG00000013226 BX088651 NG_013297 HGNC:37486 +HGNC:37487 RBPJP7 RBPJ pseudogene 7 pseudogene pseudogene Approved 9q13 09q13 2009-10-26 2016-10-05 100133122 ENSG00000234217 OTTHUMG00000013219 BX005266 NG_013298 HGNC:37487 +HGNC:19097 RBPMS RNA binding protein, mRNA processing factor protein-coding gene gene with protein product Approved 8p12 08p12 HERMES RNA binding protein with multiple splicing RNA binding motif containing 725 2003-02-25 2018-01-04 2018-01-04 11030 ENSG00000157110 OTTHUMG00000163845 uc003xie.3 D84110 NM_001008710 "CCDS6077|CCDS34875|CCDS34876" Q93062 "8855282|28003515" MGI:1334446 RGD:1561067 601558 HGNC:19097 "ENST00000397323.9|NM_001008710.3" +HGNC:48721 RBPMS-AS1 RBPMS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p12 08p12 Antisense RNAs 1987 2013-06-07 2013-06-07 100128750 ENSG00000254109 OTTHUMG00000163930 NR_046205 RBPMS-AS1 HGNC:48721 +HGNC:19098 RBPMS2 RNA binding protein, mRNA processing factor 2 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 RNA binding protein with multiple splicing 2 "RNA binding motif containing|MicroRNA protein coding host genes" "725|1691" 2004-09-17 2018-01-04 2019-02-18 348093 ENSG00000166831 OTTHUMG00000172423 uc002anq.4 AY369207 NM_194272 CCDS32271 Q6ZRY4 25064856 MGI:1919223 RGD:1561222 619034 HGNC:19098 "ENST00000300069.5|NM_194272.3" +HGNC:50509 RBPMS2P1 RBPMS2 pseudogene 1 pseudogene pseudogene Approved 6q13 06q13 2014-05-15 2014-05-15 100421512 ENSG00000234025 OTTHUMG00000015019 NG_047170 PGOHUM00000243247 HGNC:50509 +HGNC:9923 RBPMSLP RNA binding protein with multiple splicing-like pseudogene pseudogene pseudogene Approved 21q21.1 21q21.1 RNA-binding protein with multiple splicing-like pseudogene 2000-05-23 2001-11-28 2016-10-05 54032 ENSG00000234159 OTTHUMG00000074345 NG_028762 PGOHUM00000239037 HGNC:9923 +HGNC:20759 RBSN rabenosyn, RAB effector protein-coding gene gene with protein product Approved 3p25.1 03p25.1 Rabenosyn-5 ZFYVE20 zinc finger, FYVE domain containing 20 Zinc fingers FYVE-type 81 2003-04-01 2014-12-03 2014-12-03 2014-12-03 64145 ENSG00000131381 OTTHUMG00000129860 AY009133 NM_022340 CCDS2623 Q9H1K0 "11062261|25233840" MGI:1925537 RGD:1305397 609511 HGNC:20759 "ENST00000253699.7|NM_022340.4" HGNC:20759 +HGNC:9928 RBX1 ring-box 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "ROC1|RNF75|BA554C12.1" regulator of cullins 1 "Ring finger proteins|SCF complex core subunits" "58|2126" 1999-10-29 2016-04-05 2017-12-06 9978 ENSG00000100387 OTTHUMG00000151298 uc003azk.4 AF140598 NM_014248 CCDS14009 P62877 "10213691|10230407" MGI:1891829 RGD:1308453 603814 HGNC:9928 "ENST00000216225.9|NM_014248.4" +HGNC:54740 RBX1P1 RBX1 pseudogene 1 pseudogene pseudogene Approved 2p12 02p12 2019-12-19 2019-12-19 100287985 ENSG00000226860 NG_027749 +HGNC:54741 RBX1P2 RBX1 pseudogene 2 pseudogene pseudogene Approved 5q14.1 05q14.1 2019-12-19 2019-12-19 2019-12-19 2019-12-19 100500934 ENSG00000251050 NG_027750 +HGNC:29434 RC3H1 ring finger and CCCH-type domains 1 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "KIAA2025|roquin|RP5-1198E17.5|RNF198" KIAA2025 protein ring finger and CCCH-type zinc finger domains 1 "Ring finger proteins|Zinc fingers CCCH-type" "58|73" 2005-08-19 2010-09-15 2014-11-19 149041 ENSG00000135870 OTTHUMG00000037275 uc057nkw.1 AK093501 NM_172071 "CCDS72987|CCDS30940" Q5TC82 15917799 MGI:2685397 RGD:1563512 609424 HGNC:29434 "ENST00000367696.7|NM_172071.4" +HGNC:54295 RC3H1-DT RC3H1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 LINC02776 long intergenic non-protein coding RNA 2776 Divergent transcripts 1990 2019-05-02 2021-09-01 2021-09-01 2021-09-01 105371620 ENSG00000224977 XR_922293 HGNC:54295 +HGNC:41496 RC3H1-IT1 RC3H1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 RC3H1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 106481790 ENSG00000236535 OTTHUMG00000034823 uc057nlb.1 RC3H1-IT1 +HGNC:21461 RC3H2 ring finger and CCCH-type domains 2 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 "FLJ20301|FLJ20713|RNF164" MNAB "membrane associated DNA binding protein|ring finger and CCCH-type zinc finger domains 2" "Ring finger proteins|Zinc fingers CCCH-type|Small nucleolar RNA protein coding host genes" "58|73|1835" 2004-05-20 2007-02-06 2010-09-15 2016-10-05 54542 ENSG00000056586 OTTHUMG00000020632 uc010mwc.1 AK000308 NM_018835 "CCDS48014|CCDS43874|CCDS87685" Q9HBD1 10938276 MGI:2442789 RGD:1304833 615231 HGNC:21461 "ENST00000357244.7|NM_001100588.3" +HGNC:3040 RCAN1 regulator of calcineurin 1 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 DSCR1 Down syndrome critical region gene 1 1997-06-09 2007-06-26 2007-06-26 2016-10-05 1827 ENSG00000159200 OTTHUMG00000086235 uc002yuc.5 NM_001285389 "CCDS13637|CCDS82668|CCDS74788|CCDS42921|CCDS74790|CCDS33551" P53805 8595418 MGI:1890564 RGD:631338 602917 HGNC:3040 "ENST00000313806.9|NM_004414.7" +HGNC:3041 RCAN2 regulator of calcineurin 2 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 ZAKI-4 DSCR1L1 Down syndrome critical region gene 1-like 1 1999-08-20 2007-06-26 2007-06-26 2014-11-19 10231 ENSG00000172348 OTTHUMG00000014782 uc003oyb.3 D83407 NM_001251973 "CCDS43469|CCDS59023" Q14206 8662924 MGI:1858219 RGD:69198 604876 HGNC:3041 "ENST00000371374.6|NM_001251974.2" +HGNC:55661 RCAN2-DT RCAN2 divergent transcript non-coding RNA RNA, long non-coding Approved 6p12.3 06p12.3 Divergent transcripts 1990 2021-06-30 2021-06-30 101926898 ENSG00000236466 NR_125837 +HGNC:3042 RCAN3 RCAN family member 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DSCR1L2 Down syndrome critical region gene 1-like 2 1999-08-26 2007-06-26 2007-06-26 2015-02-02 11123 ENSG00000117602 OTTHUMG00000003298 uc001bjj.4 NM_001251977 "CCDS57981|CCDS57982|CCDS72730|CCDS57979|CCDS57980|CCDS254" Q9UKA8 10756093 MGI:1858220 RGD:1311826 605860 HGNC:3042 "ENST00000374395.9|NM_013441.4" +HGNC:39009 RCAN3AS RCAN3 antisense RNA non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 TCONS_00001428 RCAN3 antisense Long non-coding RNAs with non-systematic symbols 1992 2011-10-19 2017-11-30 2017-11-30 100750325 ENSG00000286061 "HQ317424|HQ317425|HQ419072" NR_045408 "21042787|21961037" HGNC:39009 +HGNC:18243 RCBTB1 RCC1 and BTB domain containing protein 1 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "FLJ10716|CLLD7|CLLL7" regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 BTB domain containing 861 2003-05-02 2016-02-12 2016-10-05 55213 ENSG00000136144 OTTHUMG00000016915 uc001vde.1 AF334406 NM_018191 CCDS9418 Q8NDN9 11306461 MGI:1918580 RGD:1308467 607867 477262 HGNC:18243 "ENST00000378302.7|NM_018191.4" HGNC:18243 +HGNC:1914 RCBTB2 RCC1 and BTB domain containing protein 2 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 CHC1L "chromosome condensation 1-like|regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2" BTB domain containing 861 2005-05-09 2016-02-12 2017-03-10 1102 ENSG00000136161 OTTHUMG00000016902 uc001vci.5 AF060219 NM_001268 "CCDS9411|CCDS73572|CCDS73570|CCDS73571" O95199 9806834 MGI:1917200 RGD:735048 603524 HGNC:1914 "ENST00000344532.8|NM_001268.4" +HGNC:45167 RCBTB2P1 RCC1 and BTB domain containing protein 2 pseudogene 1 pseudogene pseudogene Approved 10q23.31 10q23.31 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 pseudogene 1 2013-02-28 2016-02-12 2016-02-12 100130253 ENSG00000235150 OTTHUMG00000018696 NG_022152 PGOHUM00000238577 HGNC:45167 +HGNC:1913 RCC1 regulator of chromosome condensation 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 CHC1 chromosome condensation 1 1986-01-01 2005-05-09 2005-05-09 2015-08-25 1104 ENSG00000180198 OTTHUMG00000003645 uc001bqc.2 X12654 NM_001269 "CCDS41295|CCDS323" P18754 7851910 MGI:1913989 RGD:1592835 179710 HGNC:1913 "ENST00000683442.1|NM_001381865.2" +HGNC:14948 RCC1L RCC1 like protein-coding gene gene with protein product Approved 7q11.23 07q11.23 WBSCR16 Williams-Beuren syndrome chromosome region 16 2001-08-08 2016-05-11 2016-05-11 2021-10-08 81554 ENSG00000274523 OTTHUMG00000130373 uc003ubr.5 AF410455 NM_030798 "CCDS64684|CCDS64683|CCDS5577" Q96I51 "12073013|28608466|32735630" MGI:2137600 RGD:1307558 HGNC:14948 "ENST00000610322.5|NM_030798.5" +HGNC:30297 RCC2 regulator of chromosome condensation 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 TD-60 2005-06-07 2014-11-19 55920 ENSG00000179051 OTTHUMG00000002513 uc001bam.4 NM_018715 CCDS181 Q9P258 "10819331|12919680" MGI:1919784 RGD:1309986 609587 HGNC:30297 "ENST00000375436.9|NM_018715.4" +HGNC:41262 RCC2-AS1 RCC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 "LCPAT1|ENST00000439577" lung cancer progression-association transcript 1 Antisense RNAs 1987 2018-12-19 2018-12-19 114515514 ENSG00000227751 OTTHUMG00000037449 NR_170323 "27849024|29913439" +HGNC:37710 RCC2P1 regulator of chromosome condensation 2 pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 2010-02-03 2014-11-19 650983 ENSG00000234385 OTTHUMG00000036287 NG_028686 PGOHUM00000233743 HGNC:37710 +HGNC:38419 RCC2P2 regulator of chromosome condensation 2 pseudogene 2 pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-05-05 2014-11-19 100421075 ENSG00000237997 OTTHUMG00000036504 NG_021918 PGOHUM00000233786 HGNC:38419 +HGNC:42379 RCC2P3 regulator of chromosome condensation 2 pseudogene 3 pseudogene pseudogene Approved 7q33 07q33 2011-07-05 2011-07-05 100131932 ENSG00000233951 OTTHUMG00000155790 NG_022573 PGOHUM00000233588 HGNC:42379 +HGNC:42380 RCC2P4 regulator of chromosome condensation 2 pseudogene 4 pseudogene pseudogene Approved 3q21.3 03q21.3 2011-07-05 2014-11-18 100421090 ENSG00000249558 OTTHUMG00000159602 NG_025617 PGOHUM00000237753 HGNC:42380 +HGNC:42381 RCC2P5 regulator of chromosome condensation 2 pseudogene 5 pseudogene pseudogene Approved 3q11.2 03q11.2 2011-07-05 2014-11-18 100131442 ENSG00000241018 OTTHUMG00000159186 NG_022256 PGOHUM00000238101 HGNC:42381 +HGNC:42382 RCC2P6 regulator of chromosome condensation 2 pseudogene 6 pseudogene pseudogene Approved 11q12.3 11q12.3 2011-07-05 2014-11-19 100421131 ENSG00000254454 OTTHUMG00000167514 NG_024523 PGOHUM00000242758 HGNC:42382 +HGNC:42383 RCC2P7 regulator of chromosome condensation 2 pseudogene 7 pseudogene pseudogene Approved 6p12.1 06p12.1 2011-07-05 2014-11-18 442221 ENSG00000220666 OTTHUMG00000014908 NG_022301 PGOHUM00000243212 HGNC:42383 +HGNC:42384 RCC2P8 regulator of chromosome condensation 2 pseudogene 8 pseudogene pseudogene Approved 4q25 04q25 2011-07-05 2011-07-05 100129714 ENSG00000250185 OTTHUMG00000161039 NG_022024 PGOHUM00000245650 HGNC:42384 +HGNC:30457 RCCD1 RCC1 domain containing 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 MGC14386 2005-10-21 2005-10-21 2020-04-02 91433 ENSG00000166965 OTTHUMG00000171684 uc002bqk.4 NM_033544 CCDS32333 A6NED2 24981860 MGI:2444156 RGD:1309901 617997 HGNC:30457 "ENST00000394258.7|NM_001017919.2" +HGNC:54811 RCCD1-AS1 RCCD1 and UNC45A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Antisense RNAs 1987 2020-01-17 2021-01-20 116435297 ENSG00000258384 NR_170325 32079618 +HGNC:13721 RCE1 Ras converting CAAX endopeptidase 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "hRCE1|FACE-2|FACE2" "farnesylated protein-converting enzyme 2|prenyl protein-specific endoprotease 2|RCE1 homolog, prenyl protein protease|CAAX prenyl protease 2" "RCE1A|RCE1B" "RCE1 (S. Cerevisiae) homolog, prenyl protein protease|RCE1 homolog, prenyl protein peptidase (S. cerevisiae)|RCE1 homolog, prenyl protein protease (S. cerevisiae)" 2001-01-10 2001-06-29 2013-10-18 2016-10-05 9986 ENSG00000173653 OTTHUMG00000167098 uc001ojk.2 AF121951 NM_005133 CCDS8151 Q9Y256 "10085068|10373325" MGI:1336895 RGD:1309261 605385 M79.002 objectId:2412 HGNC:13721 "ENST00000309657.8|NM_005133.3" +HGNC:17479 RCHY1 ring finger and CHY zinc finger domain containing 1 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "CHIMP|DKFZp586C1620|PRO1996|RNF199|ARNIP|PIRH2|ZCHY" "androgen-receptor N-terminal-interacting protein|p53-induced protein with a RING-H2 domain|zinc finger, CHY-type" ZNF363 ZNF363 Ring finger proteins 58 2002-02-15 2004-03-30 2016-01-13 2017-12-06 25898 ENSG00000163743 OTTHUMG00000130105 uc003hik.4 AF255666 NM_015436 "CCDS3567|CCDS63990|CCDS63992|CCDS63991|CCDS34012" Q96PM5 12654245 MGI:1915348 RGD:1359180 607680 HGNC:17479 "ENST00000324439.10|NM_015436.4" +HGNC:17687 RCL1 RNA terminal phosphate cyclase like 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "RPCL1|RNAC" RNA terminal phosphate cyclase-like 1 "SSU processome|MicroRNA protein coding host genes" "1484|1691" 2003-12-01 2016-03-24 2016-10-05 10171 ENSG00000120158 OTTHUMG00000019474 uc003zis.4 AJ276894 NM_005772 "CCDS75810|CCDS6456|CCDS69565" Q9Y2P8 MGI:1913275 RGD:1305320 611405 HGNC:17687 "ENST00000381750.9|NM_005772.5" +HGNC:9934 RCN1 reticulocalbin 1 protein-coding gene gene with protein product Approved 11p13 11p13 "Rcal|PIG20|FLJ37041" proliferation-inducing gene 20 RCN reticulocalbin 1, EF-hand calcium binding domain CREC family 2042 1997-07-25 2015-11-16 2015-11-16 5954 ENSG00000049449 OTTHUMG00000166227 uc010reb.3 D42073 NM_002901 CCDS7876 Q15293 "9192846|8586628" MGI:104559 RGD:1311292 602735 HGNC:9934 "ENST00000054950.4|NM_002901.4" +HGNC:39205 RCN1P1 reticulocalbin 1 pseudogene 1 pseudogene pseudogene Approved 6q14.3 06q14.3 reticulocalbin 1, EF-hand calcium binding domain pseudogene 1 2010-11-23 2015-11-16 2015-11-16 442234 ENSG00000215477 OTTHUMG00000015162 NG_022315 PGOHUM00000243283 HGNC:39205 +HGNC:39204 RCN1P2 reticulocalbin 1 pseudogene 2 pseudogene pseudogene Approved 13q14.13 13q14.13 reticulocalbin 1, EF-hand calcium binding domain pseudogene 2 2010-11-23 2015-11-16 2015-11-16 728913 ENSG00000214455 OTTHUMG00000016852 NG_006546 PGOHUM00000256721 HGNC:39204 +HGNC:9935 RCN2 reticulocalbin 2 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "ERC-55|E6BP|ERC55|TCBP49" Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD) reticulocalbin 2, EF-hand calcium binding domain CREC family 2042 1997-10-10 2015-11-16 2016-10-05 5955 ENSG00000117906 OTTHUMG00000143730 uc002bcd.4 X78669 NM_002902 "CCDS61719|CCDS10291" Q14257 "9533013|7624774" MGI:1349765 RGD:3548 602584 HGNC:9935 "ENST00000394885.8|NM_002902.3" +HGNC:21145 RCN3 reticulocalbin 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 RLP49 reticulocalbin 3, EF-hand calcium binding domain CREC family 2042 2003-05-20 2015-11-16 2020-04-02 57333 ENSG00000142552 OTTHUMG00000183154 uc002poj.4 AY195859 NM_020650 CCDS12771 Q96D15 MGI:1277122 RGD:1359365 619032 HGNC:21145 "ENST00000270645.8|NM_020650.3" +HGNC:17441 RCOR1 REST corepressor 1 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "COREST|KIAA0071" RCOR REST corepressor Myb/SANT domain containing 532 2002-01-09 2004-04-16 2004-04-16 2020-04-02 23186 ENSG00000089902 OTTHUMG00000171778 uc001ymb.5 AF155595 NM_015156 CCDS9974 Q9UKL0 10449787 MGI:106340 RGD:7505493 607675 HGNC:17441 "ENST00000262241.7|NM_015156.4" +HGNC:27455 RCOR2 REST corepressor 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 Myb/SANT domain containing 532 2004-04-16 2019-03-19 283248 ENSG00000167771 OTTHUMG00000150472 uc001nyc.3 BC010608 NM_173587 CCDS8052 Q8IZ40 "21433225|28049845" MGI:1859854 RGD:1359467 616019 HGNC:27455 "ENST00000301459.5|NM_173587.4" +HGNC:25594 RCOR3 REST corepressor 3 protein-coding gene gene with protein product Approved 1q32.2-q32.3 01q32.2-q32.3 FLJ10876 Myb/SANT domain containing 532 2004-04-16 2018-02-13 55758 ENSG00000117625 OTTHUMG00000036996 uc010psw.3 AK001738 NM_018254 "CCDS44312|CCDS44313|CCDS44314|CCDS31016" Q9P2K3 10718198 MGI:2441920 RGD:1593864 HGNC:25594 "ENST00000419091.7|NM_001136223.3" +HGNC:28310 RCSD1 RCSD domain containing 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "MK2S4|MGC21854|CapZIP" CapZ interacting protein 2005-05-18 2015-08-25 92241 ENSG00000198771 OTTHUMG00000035318 uc001gem.4 BC072399 NM_052862 "CCDS1263|CCDS81396" Q6JBY9 15850461 MGI:2676394 RGD:1304715 610579 HGNC:28310 "ENST00000367854.8|NM_052862.4" +HGNC:9937 RCVRN recoverin protein-coding gene gene with protein product Approved 17p13.1 17p13.1 RCV1 EF-hand domain containing 863 1992-11-09 2006-09-26 2014-11-19 5957 ENSG00000109047 OTTHUMG00000130268 uc002gme.2 BC001720 NM_002903 CCDS11151 P35243 "1387789|12507501|1467959|12789533" MGI:97883 RGD:620258 179618 HGNC:9937 "ENST00000226193.6|NM_002903.3" +HGNC:19689 RD3 RD3 regulator of GUCY2D protein-coding gene gene with protein product Approved 1q32.3 01q32.3 LCA12 C1orf36 "chromosome 1 open reading frame 36|retinal degeneration 3|retinal degeneration 3, GUCY2D regulator" 2002-11-12 2006-11-13 2020-12-10 2020-12-10 343035 ENSG00000198570 OTTHUMG00000037002 uc001him.2 AY191519 NM_183059 CCDS1498 Q7Z3Z2 "12914764|21928830|30559291" MGI:1921273 RGD:1593897 180040 118246 HGNC:19689 "ENST00000680073.1|NM_001164688.2" HGNC:19689 +HGNC:40912 RD3L RD3 like protein-coding gene gene with protein product Approved 14q32.33 14q32.33 TDRD9AS1 TDRD9 antisense 1 TDRD9-AS1 retinal degeneration 3 like 2011-11-18 2012-03-26 2020-12-10 2020-12-10 647286 ENSG00000227729 OTTHUMG00000152877 uc031qqp.1 NM_001257268 CCDS58338 P0DJH9 MGI:2675860 RGD:1305627 HGNC:40912 "ENST00000557640.2|NM_001257268.2" +HGNC:9940 RDH5 retinol dehydrogenase 5 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "HSD17B9|SDR9C5" short chain dehydrogenase/reductase family 9C, member 5 RDH1 retinol dehydrogenase 5 (11-cis/9-cis) Short chain dehydrogenase/reductase superfamily 743 1996-07-19 2016-01-15 2016-01-15 5959 ENSG00000135437 OTTHUMG00000170126 uc001shk.4 U89717 NM_002905 CCDS31829 Q92781 "9115228|8884265|19027726" MGI:1201412 RGD:1308849 Mutations of the 11-cis Retinol Dehydrogenase Gene|http://www.retina-international.org/files/sci-news/rdh5mut.htm 601617 118253 1.1.1.105 HGNC:9940 "ENST00000257895.10|NM_002905.5" HGNC:9940 +HGNC:14423 RDH8 retinol dehydrogenase 8 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "PRRDH|SDR28C2" short chain dehydrogenase/reductase family 28C, member 2 retinol dehydrogenase 8 (all-trans) Short chain dehydrogenase/reductase superfamily 743 2001-04-27 2018-02-09 2019-08-20 50700 ENSG00000080511 OTTHUMG00000180392 uc002mmr.5 AF229845 NM_015725 CCDS12223 Q9NYR8 "10753906|19027726" MGI:2685028 RGD:1589829 608575 1.1.1.- HGNC:14423 "ENST00000591589.3|NM_015725.4" +HGNC:19975 RDH10 retinol dehydrogenase 10 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 SDR16C4 short chain dehydrogenase/reductase family 16C, member 4 retinol dehydrogenase 10 (all-trans) Short chain dehydrogenase/reductase superfamily 743 2002-12-11 2016-12-08 2016-12-08 157506 ENSG00000121039 OTTHUMG00000164492 uc003xzi.4 AF456765 NM_172037 CCDS6213 Q8IZV5 "12407145|19027726" MGI:1924238 RGD:727793 607599 1.1.1.- HGNC:19975 "ENST00000240285.10|NM_172037.5" +HGNC:51658 RDH10-AS1 RDH10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q21.11 08q21.11 Antisense RNAs 1987 2015-04-24 2015-04-24 101926926 ENSG00000250295 OTTHUMG00000164493 NR_125388 RDH10-AS1 HGNC:51658 +HGNC:17964 RDH11 retinol dehydrogenase 11 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "MDT1|SDR7C1|ARSDR1" "short chain dehydrogenase/reductase family 7C, member 1|androgen-regulated short-chain dehydrogenase/reductase 1" "retinol dehydrogenase 11 (all-trans and 9-cis)|retinol dehydrogenase 11 (all-trans/9-cis/11-cis)" Short chain dehydrogenase/reductase superfamily 743 2002-12-11 2018-02-09 2018-02-09 51109 ENSG00000072042 OTTHUMG00000171196 uc001xjv.6 AF151840 NM_001252650 "CCDS58326|CCDS32104" Q8TC12 "12226107|8018917|19027726" MGI:102581 RGD:1312001 607849 444684 1.1.1.- HGNC:17964 "ENST00000381346.9|NM_016026.4" HGNC:17964 +HGNC:19977 RDH12 retinol dehydrogenase 12 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "FLJ30273|SDR7C2|LCA13|RP53" short chain dehydrogenase/reductase family 7C, member 2 "retinol dehydrogenase 12 (all-trans and 9-cis)|retinol dehydrogenase 12 (all-trans/9-cis/11-cis)" Short chain dehydrogenase/reductase superfamily 743 2002-12-11 2018-02-09 2018-02-09 145226 ENSG00000139988 OTTHUMG00000170032 uc001xjz.5 AK054835 NM_152443 CCDS9787 Q96NR8 "12226107|19027726" MGI:1925224 RGD:1310462 608830 118250 1.1.1.- HGNC:19977 "ENST00000551171.6|NM_152443.3" HGNC:19977 +HGNC:19978 RDH13 retinol dehydrogenase 13 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SDR7C3 short chain dehydrogenase/reductase family 7C, member 3 "retinol dehydrogenase 13 (all-trans and 9-cis)|retinol dehydrogenase 13 (all-trans/9-cis)" Short chain dehydrogenase/reductase superfamily 743 2002-12-11 2016-07-14 2020-04-02 112724 ENSG00000160439 OTTHUMG00000180478 uc061cvb.1 NM_138412 "CCDS42627|CCDS54320" Q8NBN7 "12226107|19027726" MGI:1918732 RGD:1304959 1.1.1.- HGNC:19978 "ENST00000415061.8|NM_001145971.2" +HGNC:19979 RDH14 retinol dehydrogenase 14 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 "PAN2|SDR7C4" short chain dehydrogenase/reductase family 7C, member 4 "retinol dehydrogenase 14 (all-trans and 9-cis)|retinol dehydrogenase 14 (all-trans/9-cis/11-cis)" Short chain dehydrogenase/reductase superfamily 743 2002-12-11 2017-12-15 2017-12-15 57665 ENSG00000240857 OTTHUMG00000090705 uc002rcx.5 AF237952 NM_020905 CCDS1693 Q9HBH5 "12226107|19027726" MGI:1920402 RGD:1565196 616796 1.1.1.- HGNC:19979 "ENST00000381249.4|NM_020905.4" +HGNC:29674 RDH16 retinol dehydrogenase 16 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "RODH-4|SDR9C8" "microsomal NAD+ dependent retinol dehydrogenase 4|short chain dehydrogenase/reductase family 9C, member 8" "retinol dehydrogenase 16 (all-trans and 13-cis)|retinol dehydrogenase 16 (all-trans)" Short chain dehydrogenase/reductase superfamily 743 2005-05-23 2018-02-09 2020-04-02 8608 ENSG00000139547 OTTHUMG00000170895 uc001smi.6 NM_003708 CCDS41797 O75452 "9677409|10329026|19027726" "MGI:1195275|MGI:1201375|MGI:1860517|MGI:2143528|MGI:2678390|MGI:3583955" RGD:735050 HGNC:29674 "ENST00000398138.5|NM_003708.5" +HGNC:19950 RDM1 RAD52 motif containing 1 protein-coding gene gene with protein product Approved 17q12 17q12 MGC33977 RAD52B "RAD52 homolog B (S. cerevisiae)|RAD52 motif 1" RNA binding motif containing 725 2004-02-19 2005-10-20 2014-04-10 2016-10-05 201299 ENSG00000278023 OTTHUMG00000188399 uc032gbd.3 AB080728 NM_145654 "CCDS59281|CCDS54108|CCDS54109|CCDS54110|CCDS82109|CCDS54111|CCDS59280|CCDS42299|CCDS11301" Q8NG50 15611051 MGI:1913849 RGD:1310432 612896 HGNC:19950 "ENST00000620284.5|NM_145654.4" +HGNC:53917 RDM1P1 RDM1 pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 2018-06-06 2018-06-06 112577465 ENSG00000266504 OTTHUMG00000179213 NG_066031 HGNC:53917 +HGNC:53918 RDM1P2 RDM1 pseudogene 2 pseudogene pseudogene Approved 17q21.31 17q21.31 2018-06-06 2018-06-06 112577466 ENSG00000266497 OTTHUMG00000179214 NG_068481 +HGNC:53919 RDM1P3 RDM1 pseudogene 3 pseudogene pseudogene Approved 17q24.2 17q24.2 2018-06-06 2018-06-06 100418928 ENSG00000267708 OTTHUMG00000180172 NG_026201 PGOHUM00000294212 HGNC:53919 +HGNC:53920 RDM1P4 RDM1 pseudogene 4 pseudogene pseudogene Approved 17q24.1 17q24.1 2018-06-06 2018-06-06 112577467 ENSG00000271974 OTTHUMG00000185418 NG_068482 PGOHUM00000294199 +HGNC:53921 RDM1P5 RDM1 pseudogene 5 pseudogene pseudogene Approved 17q12 17q12 2018-06-06 2018-06-06 100131347 ENSG00000263818 OTTHUMG00000178956 NR_036551 HGNC:53921 +HGNC:9944 RDX radixin protein-coding gene gene with protein product Approved 11q22.3 11q22.3 DFNB24 deafness, autosomal recessive 24 FERM domain containing 1293 1992-12-08 2019-08-21 5962 ENSG00000137710 OTTHUMG00000166574 uc001pku.4 BC020751 NM_002906 "CCDS8343|CCDS58171|CCDS58173|CCDS58172|CCDS58174" P35241 "8486357|17226784" MGI:97887 RGD:1359472 179410 159272 HGNC:9944 "ENST00000645495.2|NM_002906.4" HGNC:9944 +HGNC:9945 RDXP1 RDX pseudogene 1 pseudogene pseudogene Approved 11p15.4 11p15.4 radixin pseudogene 1 1992-12-08 2020-04-24 2020-04-24 643244 ENSG00000255387 OTTHUMG00000165306 NG_021769 PGOHUM00000290351 HGNC:9945 +HGNC:9946 RDXP2 radixin pseudogene 2 pseudogene pseudogene Approved Xp21.3 Xp21.3 1992-12-08 2020-04-07 5964 ENSG00000223391 OTTHUMG00000021301 NG_000867 8486357 HGNC:9946 +HGNC:54912 RDXP3 RDX pseudogene 3 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-04-24 100132076 ENSG00000238247 NG_022650 +HGNC:16879 REC8 REC8 meiotic recombination protein protein-coding gene gene with protein product Approved 14q12 14q12 "Rec8p|kleisin-alpha" REC8L1 "REC8-like 1 (yeast)|REC8 homolog (yeast)" "Cohesin complex|Kleisins" "1060|1451" 2003-09-29 2007-04-03 2013-08-06 2016-01-15 9985 ENSG00000100918 OTTHUMG00000171916 uc032awb.2 AF006264 NM_005132 CCDS41932 O95072 "10207075|15935783|12759374" MGI:1929645 RGD:1309376 608193 HGNC:16879 "ENST00000611366.5|NM_001048205.2" +HGNC:25065 REC114 REC114 meiotic recombination protein protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "LOC283677|FLJ27520|FLJ36860|FLJ44083|CT147" C15orf60 chromosome 15 open reading frame 60 2008-07-25 2014-05-09 2014-05-09 2016-11-16 283677 ENSG00000183324 OTTHUMG00000172549 NM_001042367 "CCDS86474|CCDS45296" Q7Z4M0 20551173 MGI:1920923 RGD:1311874 618421 HGNC:25065 "ENST00000331090.11|NM_001042367.2" +HGNC:11345 RECK reversion inducing cysteine rich protein with kazal motifs protein-coding gene gene with protein product Approved 9p13.3 09p13.3 hRECK ST15 1998-10-30 2016-01-28 2016-01-28 8434 ENSG00000122707 OTTHUMG00000019898 uc003zyv.4 E13833 NM_001316345 CCDS6597 O95980 9789069 MGI:1855698 RGD:1308845 605227 I01.037 HGNC:11345 "ENST00000377966.4|NM_021111.3" +HGNC:9948 RECQL RecQ like helicase protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "RecQ1|RecQL1" DNA helicase Q1-like "RecQ protein-like (DNA helicase Q1-like)|RecQ helicase-like" RecQ like helicases 1049 1994-03-25 2014-03-07 2016-02-05 2016-02-05 5965 ENSG00000004700 OTTHUMG00000169131 uc001rey.4 D37984 NM_002907 CCDS31756 P46063 "7527136|7961977" MGI:103021 RGD:1311071 600537 HGNC:9948 "ENST00000444129.7|NM_002907.4" HGNC:9948 +HGNC:9949 RECQL4 RecQ like helicase 4 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 RecQ4 RecQ helicase-like 4 RecQ like helicases 1049 1999-05-06 2014-03-07 2016-02-05 2021-05-26 9401 ENSG00000160957 OTTHUMG00000165178 uc033ccu.2 AB006532 NM_004260 CCDS75804 O94761 "9878247|15960976" MGI:1931028 RGD:1307732 LRG_277|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_277.xml RECQL4 603780 118257 HGNC:9949 "ENST00000617875.6|NM_004260.4" HGNC:9949 +HGNC:9950 RECQL5 RecQ like helicase 5 protein-coding gene gene with protein product Approved 17q25 17q25 "RecQ5|FLJ90603" RecQ protein 5 RecQ like helicases 1049 1999-05-06 2014-03-07 2016-02-05 2016-02-05 9400 ENSG00000108469 OTTHUMG00000179795 uc060jzu.1 AB006533 NM_004259 "CCDS45777|CCDS42380|CCDS32735" O94762 9878247 MGI:2156841 RGD:1310823 603781 HGNC:9950 "ENST00000317905.10|NM_004259.7" HGNC:9950 +HGNC:53638 REELD1 reeler domain containing 1 protein-coding gene gene with protein product Approved 4q31.22 04q31.22 2017-08-09 2017-08-09 345051 ENSG00000250673 OTTHUMG00000161438 NM_001354631 CCDS87268 A0A1B0GV85 HGNC:53638 "ENST00000623665.2|NM_001354631.1" +HGNC:25786 REEP1 receptor accessory protein 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ13110|SPG31|Yip2a" receptor expression enhancing protein 1 C2orf23 chromosome 2 open reading frame 23 Receptor accessory proteins 717 2004-04-27 2006-02-07 2006-02-07 2021-05-26 65055 ENSG00000068615 OTTHUMG00000130205 uc002srh.5 AK023172 NM_022912 "CCDS1989|CCDS54374|CCDS54373|CCDS54372" Q9H902 "16271481|15550249" MGI:1098827 RGD:1305230 LRG_713|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_713.xml 609139 118260 HGNC:25786 "ENST00000538924.7|NM_001371279.1" HGNC:25786 +HGNC:17975 REEP2 receptor accessory protein 2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "SGC32445|SPG72|Yip2d" C5orf19 chromosome 5 open reading frame 19 Receptor accessory proteins 717 2004-04-27 2006-02-07 2006-02-07 2016-10-05 51308 ENSG00000132563 OTTHUMG00000129205 uc003lcz.5 AK056193 NM_016606 "CCDS64259|CCDS4205" Q9BRK0 "16271481|15550249|24388663" MGI:2385070 RGD:1586980 609347 403398 HGNC:17975 "ENST00000378339.7|NM_001271803.2" HGNC:17975 +HGNC:23711 REEP3 receptor accessory protein 3 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 Yip2b C10orf74 chromosome 10 open reading frame 74 Receptor accessory proteins 717 2004-02-13 2006-02-07 2006-02-07 2015-11-17 221035 ENSG00000165476 OTTHUMG00000018318 uc001jmt.3 BC057832 NM_001001330 CCDS44411 Q6NUK4 "16271481|15550249" MGI:88930 RGD:1560401 609348 HGNC:23711 "ENST00000373758.5|NM_001001330.3" +HGNC:26176 REEP4 receptor accessory protein 4 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "FLJ22246|FLJ22277|PP432|Yip2c" C8orf20 chromosome 8 open reading frame 20 Receptor accessory proteins 717 2004-04-27 2006-02-07 2006-02-07 2015-11-17 80346 ENSG00000168476 OTTHUMG00000131491 uc003xau.2 BC013048 NM_025232 "CCDS6024|CCDS83257|CCDS83258" Q9H6H4 "16271481|15550249" MGI:1919799 RGD:1306561 609349 HGNC:26176 "ENST00000306306.8|NM_025232.4" +HGNC:30077 REEP5 receptor accessory protein 5 protein-coding gene gene with protein product Approved 5q22.2 05q22.2 "DP1|TB2|D5S346|Yip2e|POB16" "deleted in polyposis 1|polyposis locus protein 1|polyposis coli region hypothetical protein DP1" C5orf18 chromosome 5 open reading frame 18 Receptor accessory proteins 717 2004-07-05 2006-02-07 2006-02-07 2020-01-28 7905 ENSG00000129625 OTTHUMG00000128807 uc003kqe.2 BC000232 NM_005669 CCDS4109 Q00765 "16271481|15550249|29431104" MGI:1270152 RGD:1306047 125265 HGNC:30077 "ENST00000379638.9|NM_005669.5" +HGNC:30078 REEP6 receptor accessory protein 6 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "DP1L1|FLJ25383|Yip2f" "polyposis locus protein 1-like 1|deleted in polyposis 1-like 1" C19orf32 chromosome 19 open reading frame 32 Receptor accessory proteins 717 2004-07-05 2006-02-07 2006-02-08 2021-05-26 92840 ENSG00000115255 OTTHUMG00000180072 uc002ltc.4 BC008201 NM_138393 CCDS12070 Q96HR9 "16271481|15550249" MGI:1917585 RGD:1309508 609346 HGNC:30078 "ENST00000233596.8|NM_138393.4" HGNC:30078 +HGNC:9951 REG1A regenerating family member 1 alpha protein-coding gene gene with protein product Approved 2p12 02p12 "PSP|PTP|PSPS|PSPS1" "pancreatic stone protein|pancreatic thread protein" REG regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) C-type lectin domain containing 1298 1992-06-05 2015-11-18 2015-11-18 5967 ENSG00000115386 OTTHUMG00000130016 uc002snz.3 NM_002909 CCDS1964 P05451 "2332435|8333731" "MGI:97895|MGI:97896" RGD:3552 167770 I63.002 HGNC:9951 "ENST00000233735.2|NM_002909.5" +HGNC:9952 REG1B regenerating family member 1 beta protein-coding gene gene with protein product Approved 2p12 02p12 "REGL|PSPS2|REGH|REGI-BETA" "lithostathine 1 beta|secretory pancreatic stone protein 2" regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein) C-type lectin domain containing 1298 1994-07-04 2015-11-18 2015-11-18 5968 ENSG00000172023 OTTHUMG00000130019 uc002sny.3 NM_006507 CCDS1963 P48304 8110835 "MGI:97895|MGI:97896" 167771 HGNC:9952 "ENST00000305089.8|NM_006507.4" +HGNC:9953 REG1CP regenerating family member 1 gamma, pseudogene pseudogene pseudogene Approved 2p12 02p12 RS "REGL|REG1P" "rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)|regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)|regenerating islet-derived 1 pseudogene" 1993-07-12 2015-11-18 2015-11-18 2015-11-18 5969 ENSG00000204787 OTTHUMG00000152978 NR_002714 8333731 HGNC:9953 +HGNC:8601 REG3A regenerating family member 3 alpha protein-coding gene gene with protein product Approved 2p12 02p12 "HIP|REG-III|REG3|PBCGF|PAP1" PAP "pancreatitis-associated protein|regenerating islet-derived 3 alpha" C-type lectin domain containing 1298 1993-09-20 2005-02-11 2015-11-18 2015-11-18 5068 ENSG00000172016 OTTHUMG00000130017 uc002sof.3 S51768 NM_002580 CCDS1965 Q06141 8188210 "MGI:109408|MGI:97478" RGD:3254 167805 I63.002 HGNC:8601 "ENST00000305165.3|NM_002580.3" +HGNC:29595 REG3G regenerating family member 3 gamma protein-coding gene gene with protein product Approved 2p12 02p12 "UNQ429|LPPM429|PAP1B" regenerating islet-derived 3 gamma C-type lectin domain containing 1298 2005-02-11 2015-11-18 2015-11-18 130120 ENSG00000143954 OTTHUMG00000130018 uc002snw.5 AY359047 NM_198448 "CCDS1962|CCDS58714" Q6UW15 12975309 MGI:109406 RGD:3256 609933 HGNC:29595 "ENST00000272324.10|NM_001008387.3" +HGNC:22977 REG4 regenerating family member 4 protein-coding gene gene with protein product Approved 1p12 01p12 "REG-IV|RELP|GISP" "regenerating gene type IV|gastrointestinal secretory protein" regenerating islet-derived family, member 4 C-type lectin domain containing 1298 2003-09-08 2015-11-18 2022-03-08 83998 ENSG00000134193 OTTHUMG00000012175 uc001eif.4 AY007243 NM_032044 "CCDS53354|CCDS906" Q9BYZ8 "11311942|12455032" MGI:1914959 RGD:1303341 609846 I63.002 HGNC:22977 "ENST00000256585.10|NM_032044.4" +HGNC:9954 REL REL proto-oncogene, NF-kB subunit protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "I-Rel|c-Rel|HIVEN86A" v-rel avian reticuloendotheliosis viral oncogene homolog "NF-kappa B complex subunits|IPT domain containing" "1254|1752" 2001-06-22 2016-04-29 2021-01-26 5966 ENSG00000162924 OTTHUMG00000129418 uc002sam.2 M11595 NM_002908 "CCDS1864|CCDS74515" Q04864 1577270 MGI:97897 RGD:1311231 REL 164910 HGNC:9954 "ENST00000394479.4|NM_001291746.2" +HGNC:49572 REL-DT REL divergent transcript non-coding RNA RNA, long non-coding Approved 2p16.1 02p16.1 FLJ16341 LINC01185 long intergenic non-protein coding RNA 1185 Divergent transcripts 1990 2014-01-17 2021-07-29 2021-07-29 2021-07-29 400957 ENSG00000228414 OTTHUMG00000152126 AK122786 NR_033980 LINC01185 HGNC:49572 +HGNC:9955 RELA RELA proto-oncogene, NF-kB subunit protein-coding gene gene with protein product Approved 11q13.1 11q13.1 p65 NFKB3 "nuclear factor of kappa light polypeptide gene enhancer in B-cells 3|v-rel avian reticuloendotheliosis viral oncogene homolog A" "NF-kappa B complex subunits|IPT domain containing" "1254|1752" 1991-11-14 2016-04-29 2016-10-05 5970 ENSG00000173039 OTTHUMG00000166566 uc001ofg.4 Z22951 NM_021975 "CCDS31609|CCDS73322|CCDS44651" Q04206 2001591 MGI:103290 RGD:727889 164014 395954 HGNC:9955 "ENST00000406246.8|NM_021975.4" HGNC:9955 +HGNC:54185 RELA-DT RELA divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Divergent transcripts 1990 2019-02-21 2019-02-21 105369347 ENSG00000285533 XR_001748269 HGNC:54185 +HGNC:9956 RELB RELB proto-oncogene, NF-kB subunit protein-coding gene gene with protein product Approved 19q13.32 19q13.32 REL-B v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3) "NF-kappa B complex subunits|IPT domain containing" "1254|1752" 1995-10-02 2016-04-29 2016-04-29 5971 ENSG00000104856 OTTHUMG00000162116 uc060zvi.1 M83221 NM_006509 CCDS46110 Q01201 1531086 MGI:103289 RGD:2321078 604758 HGNC:9956 "ENST00000221452.13|NM_006509.4" +HGNC:29289 RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "HsT885|HsT3308|FLJ33841" KIAA1468 KIAA1468 Armadillo like helical domain containing 1492 2004-01-04 2018-05-10 2018-05-10 2018-05-10 57614 ENSG00000134444 OTTHUMG00000132780 uc002lil.4 BC011992 NM_020854 "CCDS86675|CCDS86676|CCDS11979" Q9P260 "11973628|29514919" MGI:1922832 RGD:1307235 618001 HGNC:29289 "ENST00000644646.2|NM_001346231.2" +HGNC:27379 RELL1 RELT like 1 protein-coding gene gene with protein product Approved 4p14 04p14 RELT-like 1 RELT family 1406 2007-06-15 2016-01-28 2016-01-28 768211 ENSG00000181826 OTTHUMG00000160389 uc003gsz.3 AK025431 NM_001085400 CCDS43221 Q8IUW5 "16389068|22052202" MGI:2140767 RGD:1307468 611212 HGNC:27379 "ENST00000454158.7|NM_001085400.2" +HGNC:26902 RELL2 RELT like 2 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 FLJ90583 C5orf16 "chromosome 5 open reading frame 16|RELT-like 2" RELT family 1406 2004-01-08 2007-06-15 2016-01-28 2017-03-02 285613 ENSG00000164620 OTTHUMG00000129612 uc003lli.4 AK054889 NM_173828 CCDS4265 Q8NC24 16389068 MGI:1918044 RGD:1305276 611213 HGNC:26902 "ENST00000297164.8|NM_173828.5" +HGNC:9957 RELN reelin protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "RL|PRO1598" 1997-07-22 2016-10-05 5649 ENSG00000189056 OTTHUMG00000157247 uc010liz.3 NM_005045 "CCDS34722|CCDS47680" P78509 9049633 MGI:103022 RGD:3553 600514 118272 HGNC:9957 "ENST00000428762.6|NM_005045.4" HGNC:9957 +HGNC:13764 RELT RELT TNF receptor protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FLJ14993 receptor expressed in lymphoid tissues TNFRSF19L "tumor necrosis factor receptor superfamily, member 19-like|RELT tumor necrosis factor receptor" "Tumor necrosis factor receptor superfamily|RELT family" "782|1406" 2002-02-08 2007-06-14 2019-01-25 2019-08-21 84957 ENSG00000054967 OTTHUMG00000167973 uc001otv.4 AF319553 NM_032871 CCDS8222 Q969Z4 "11313261|16547002|16950202|16389068" MGI:2443373 RGD:1305381 611211 objectId:1892 HGNC:13764 "ENST00000064780.7|NM_152222.2" HGNC:13764 +HGNC:15922 REM1 RRAD and GEM like GTPase 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 GES GTPase GES REM RAS (RAD and GEM)-like GTP-binding RGK type GTPase family 1260 2001-06-21 2004-04-16 2016-05-04 2016-05-04 28954 ENSG00000088320 OTTHUMG00000032168 uc002wwa.5 AF152863 NM_014012 CCDS13181 O75628 "10831614|14623965|22076634" MGI:1097696 RGD:1306560 610388 HGNC:15922 "ENST00000201979.3|NM_014012.6" +HGNC:20248 REM2 RRAD and GEM like GTPase 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 FLJ38964 RAS (RAD and GEM) like GTP binding 2 RGK type GTPase family 1260 2003-01-14 2016-05-04 2020-04-20 161253 ENSG00000139890 OTTHUMG00000170277 uc001whf.2 NM_173527 CCDS45082 Q8IYK8 10727423 MGI:2155260 RGD:69081 616955 HGNC:20248 "ENST00000267396.9|NM_173527.3" +HGNC:9958 REN renin protein-coding gene gene with protein product Approved 1q32.1 01q32.1 Peptidase family A1 1928 1986-01-01 2016-10-05 5972 ENSG00000143839 OTTHUMG00000036059 uc001haq.3 BC047752 NM_000537 CCDS30981 P00797 MGI:97898 RGD:3554 179820 138530 A01.007 objectId:2413 3.4.23.15 HGNC:9958 "ENST00000272190.9|NM_000537.4" HGNC:9958 +HGNC:9959 RENBP renin binding protein protein-coding gene gene with protein product Approved Xq28 Xq28 "RNBP|RBP" "N-acylglucosamine 2-epimerase|GlcNAc 2-epimerase|N-acetyl-D-glucosamine 2-epimerase" renin-binding protein 1992-08-24 2001-11-28 2020-04-02 5973 ENSG00000102032 OTTHUMG00000024224 uc004fjo.3 NM_002910 CCDS14738 P51606 1618798 MGI:105940 RGD:621688 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RENBP 312420 HGNC:9959 "ENST00000393700.8|NM_002910.6" +HGNC:54096 RENO1 regulator of early neurogenesis 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Long non-coding RNAs with non-systematic symbols 1992 2020-11-16 2020-11-16 119545628 ENSG00000287431 MGI:1923627 +HGNC:33748 REP15 RAB15 effector protein protein-coding gene gene with protein product Approved 12p11.22 12p11.22 RAB15EP 2009-04-20 2010-09-02 387849 ENSG00000174236 OTTHUMG00000169212 uc001rig.2 BC140921 NM_001029874 CCDS31762 Q6BDI9 16195351 MGI:1913782 RGD:1562899 610848 HGNC:33748 "ENST00000310791.4|NM_001029874.3" +HGNC:17922 REPIN1 replication initiator 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "RIP60|AP4|H_DJ0584D14.12|Zfp464" "replication initiation region protein (60kD)|zinc finger protein AP4|zinc finger protein 464 (RIP60)" ZNF464 zinc finger protein 464 (RIP60) Zinc fingers C2H2-type 28 2003-07-14 2003-08-08 2003-08-07 2021-04-27 29803 ENSG00000214022 OTTHUMG00000158330 uc003whc.2 AF201303 NM_014374 "CCDS47745|CCDS43677" Q9BWE0 10606657 MGI:1889817 RGD:1549707 619039 HGNC:17922 "ENST00000489432.7|NM_001099695.2" +HGNC:41201 REPIN1-AS1 REPIN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 Antisense RNAs 1987 2020-04-16 2020-04-16 105375563 ENSG00000240449 OTTHUMG00000158322 XR_928157 +HGNC:15578 REPS1 RALBP1 associated Eps domain containing 1 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 EF-hand domain containing 863 2001-05-29 2015-08-25 85021 ENSG00000135597 OTTHUMG00000015685 uc011edr.4 NM_001128617 "CCDS47488|CCDS5193|CCDS69213|CCDS69212" Q96D71 MGI:1196373 RGD:1307131 614825 HGNC:15578 "ENST00000450536.7|NM_001286611.2" +HGNC:9963 REPS2 RALBP1 associated Eps domain containing 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 POB1 EF-hand domain containing 863 2000-01-18 2020-04-02 9185 ENSG00000169891 OTTHUMG00000021199 uc004cxv.1 AF010233 NM_004726 "CCDS14180|CCDS43919" Q8NFH8 "9422736|9928989" MGI:2663511 RGD:1561642 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/REPS2 300317 HGNC:9963 "ENST00000357277.8|NM_004726.3" +HGNC:30309 RER1 retention in endoplasmic reticulum sorting receptor 1 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) 2004-12-17 2013-10-18 2016-10-05 11079 ENSG00000157916 OTTHUMG00000001403 uc001aje.3 AF157324 NM_007033 CCDS41232 O15258 "9309388|17668005" MGI:1915080 RGD:1306324 HGNC:30309 "ENST00000605895.6|NM_007033.5" +HGNC:9965 RERE arginine-glutamic acid dipeptide repeats protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "KIAA0458|ARP|ARG|DNB1|ATN2" atrophin 2 ATN1L arginine-glutamic acid dipeptide (RE) repeats "GATA zinc finger domain containing|Myb/SANT domain containing|Atrophins" "82|532|2003" 2000-05-19 2016-04-05 2020-01-14 473 ENSG00000142599 OTTHUMG00000001765 uc001ape.4 AF016005 NM_001042681 "CCDS41243|CCDS95" Q9P2R6 "10814707|10729226" MGI:2683486 RGD:629475 605226 465808 HGNC:9965 "ENST00000400908.7|NM_001042681.2" HGNC:9965 +HGNC:40501 RERE-AS1 RERE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.23 01p36.23 Antisense RNAs 1987 2018-09-26 2018-09-26 102724552 ENSG00000232912 OTTHUMG00000001772 NR_125999 HGNC:40501 +HGNC:38795 REREP1Y arginine-glutamic acid dipeptide repeats pseudogene 1 Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 arginine-glutamic acid dipeptide (RE) repeats pseudogene 1, Y-linked 2010-08-04 2018-04-30 2018-04-30 105377240 ENSG00000225189 OTTHUMG00000044055 XR_938667 PGOHUM00000234037 HGNC:38795 +HGNC:38796 REREP2Y arginine-glutamic acid dipeptide repeats pseudogene 2 Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 arginine-glutamic acid dipeptide (RE) repeats pseudogene 2, Y-linked 2010-08-04 2018-04-30 2018-04-30 105377243 ENSG00000235014 OTTHUMG00000046126 XR_938673 PGOHUM00000233884 HGNC:38796 +HGNC:38797 REREP3 arginine-glutamic acid dipeptide repeats pseudogene 3 pseudogene pseudogene Approved 15q11.2 15q11.2 arginine-glutamic acid dipeptide (RE) repeats pseudogene 3 2010-08-04 2016-06-27 2016-06-27 646396 NR_033735 PGOHUM00000246988 HGNC:38797 +HGNC:15980 RERG RAS like estrogen regulated growth inhibitor protein-coding gene gene with protein product Approved 12p12.3 12p12.3 MGC15754 RAS-like, estrogen-regulated, growth inhibitor RAS type GTPase family 389 2001-09-21 2016-03-11 2016-10-05 85004 ENSG00000134533 OTTHUMG00000168745 uc001rct.4 AF339750 NM_032918 "CCDS8673|CCDS53753" Q96A58 11533059 MGI:2665139 RGD:1562829 612664 HGNC:15980 "ENST00000256953.6|NM_032918.3" +HGNC:39990 RERG-AS1 RERG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.3 12p12.3 RERG antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100873980 ENSG00000255660 OTTHUMG00000168747 uc031yvj.2 "BF508473|AW197661" NR_046559 RERG-AS1 HGNC:39990 +HGNC:39991 RERG-IT1 RERG intronic transcript 1 non-coding RNA RNA, long non-coding Approved 12p12.3 12p12.3 RERG intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-04-20 2015-02-25 2015-02-25 100874290 ENSG00000256650 OTTHUMG00000168746 uc058lnw.1 RERG-IT1 +HGNC:26213 RERGL RERG like protein-coding gene gene with protein product Approved 12p12.3 12p12.3 FLJ22655 RERG/RAS-like RAS type GTPase family 389 2007-12-07 2016-03-11 2016-03-11 79785 ENSG00000111404 OTTHUMG00000168820 uc031yvw.2 AK026308 NM_024730 "CCDS66332|CCDS8679" Q9H628 24127187 MGI:3642998 RGD:1560090 HGNC:26213 "ENST00000538724.6|NM_001286201.2" +HGNC:25559 RESF1 retroelement silencing factor 1 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "FLJ20696|FLJ10652|UTA2-1|GET" gonad expressed transcript "C12orf35|KIAA1551" "chromosome 12 open reading frame 35|KIAA1551" Minor histocompatibility antigens 870 2006-01-23 2018-10-30 2018-10-30 2018-10-30 55196 ENSG00000174718 OTTHUMG00000128501 uc001rks.4 AK001514 NM_018169 CCDS8725 Q9HCM1 "15861396|23079962|29728365" MGI:1914496 RGD:1309621 HGNC:25559 "ENST00000312561.9|NM_018169.4" +HGNC:33762 RESP18 regulated endocrine specific protein 18 protein-coding gene gene with protein product Approved 2q35 02q35 "regulated endocrine-specific protein 18 homolog (rat)|regulated endocrine-specific protein 18" 2010-10-05 2015-11-18 2015-11-18 389075 ENSG00000182698 OTTHUMG00000150223 uc002vlc.4 AF437883 NM_001007089 CCDS33382 Q5W5W9 "17951542|7988462" MGI:1098222 RGD:3555 612721 HGNC:33762 "ENST00000333527.6|NM_001007089.4" +HGNC:9966 REST RE1 silencing transcription factor protein-coding gene gene with protein product Approved 4q12 04q12 "NRSF|XBR" neuron-restrictive silencer factor DFNA27 "RE1-silencing transcription factor|deafness, autosomal dominant 27" 1996-04-12 2016-02-29 2020-05-15 5978 ENSG00000084093 OTTHUMG00000128770 uc003hch.4 U13879 NM_005612 CCDS3509 Q13127 "7871435|7697725|29961578" MGI:104897 RGD:621069 600571 449638 HGNC:9966 "ENST00000309042.12|NM_005612.5" HGNC:9966 +HGNC:9967 RET ret proto-oncogene protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "PTC|CDHF12|RET51|CDHR16" "cadherin-related family member 16|RET receptor tyrosine kinase|rearranged during transfection" "HSCR1|MEN2A|MTC1|MEN2B" "multiple endocrine neoplasia and medullary thyroid carcinoma 1|Hirschsprung disease 1" "Cadherin related|Receptor tyrosine kinases" "24|321" 1990-07-15 2007-02-16 2021-04-13 5979 ENSG00000165731 OTTHUMG00000018024 uc001jal.4 BC004257 NM_020975 "CCDS53525|CCDS7200" P07949 "2687772|1611909" MGI:97902 RGD:3556 LRG_518|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_518.xml RET 164761 118274 objectId:2185 HGNC:9967 "ENST00000355710.8|NM_020975.6" HGNC:9967 +HGNC:20389 RETN resistin protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FIZZ3|ADSF|RETN1" 2003-02-03 2020-04-02 56729 ENSG00000104918 OTTHUMG00000182503 uc002mhf.2 AF205952 NM_020415 CCDS12182 Q9HD89 12050208 MGI:1888506 RGD:628781 605565 HGNC:20389 "ENST00000221515.6|NM_020415.4" HGNC:20389 +HGNC:20388 RETNLB resistin like beta protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "HXCP2|FIZZ2|RELMb" 2003-02-03 2016-10-05 84666 ENSG00000163515 OTTHUMG00000159393 uc003dxh.3 AF290873 NM_032579 CCDS2953 Q9BQ08 "10921885|12574343" MGI:1888504 RGD:1624215 605645 HGNC:20388 "ENST00000295755.7|NM_032579.3" +HGNC:25964 RETREG1 reticulophagy regulator 1 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "FLJ20152|JK1" FAM134B "family with sequence similarity 134, member B|family with sequence similarity 134 member B" 2007-05-01 2017-03-16 2017-03-16 2021-04-13 54463 ENSG00000154153 OTTHUMG00000161788 uc003jfs.4 BC053326 NM_001034850 "CCDS43304|CCDS43305" Q9H6L5 "19838196|24327336" MGI:1913520 RGD:1565003 LRG_363|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_363.xml 613114 218033 HGNC:25964 "ENST00000306320.10|NM_001034850.3" HGNC:25964 +HGNC:55551 RETREG1-AS1 RETREG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.1 05p15.1 Antisense RNAs 1987 2021-03-25 2021-03-25 101929524 ENSG00000246214 NR_109946 +HGNC:28450 RETREG2 reticulophagy regulator family member 2 protein-coding gene gene with protein product Approved 2q35 02q35 "MGC3035|MAG-2" "C2orf17|FAM134A" "chromosome 2 open reading frame 17|family with sequence similarity 134, member A|family with sequence similarity 134 member A" 2004-01-09 2017-03-16 2017-03-16 2017-11-06 79137 ENSG00000144567 OTTHUMG00000154577 uc002vjw.5 AK074983 NM_024293 CCDS2434 Q8NC44 29097687 MGI:2388278 RGD:1306844 HGNC:28450 "ENST00000430297.7|NM_024293.6" +HGNC:27258 RETREG3 reticulophagy regulator family member 3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "DKFZp686B1036|FLJ33806" FAM134C "family with sequence similarity 134, member C|family with sequence similarity 134 member C" 2007-05-01 2017-03-16 2017-03-16 2022-01-11 162427 ENSG00000141699 OTTHUMG00000180275 uc060fkv.1 BC049370 NM_178126 CCDS11432 Q86VR2 34338405 MGI:1915248 RGD:1561189 616498 HGNC:27258 "ENST00000309428.10|NM_178126.4" +HGNC:25991 RETSAT retinol saturase protein-coding gene gene with protein product Approved 2p11.2 02p11.2 FLJ20296 all-trans-retinol 13,14-reductase 2006-05-02 2016-05-27 2016-05-27 54884 ENSG00000042445 OTTHUMG00000154611 uc002spd.4 AK075261 NM_017750 CCDS1972 Q6NUM9 "12975309|15358783" MGI:1914692 RGD:628802 617597 1.3.99.23 HGNC:25991 "ENST00000295802.9|NM_017750.4" +HGNC:14060 REV1 REV1 DNA directed polymerase protein-coding gene gene with protein product Approved 2q11.2 02q11.2 REV1L "REV1 (yeast homolog)- like|REV1-like (yeast)|REV1 homolog (S. cerevisiae)|REV1, polymerase (DNA directed)" DNA polymerases 535 2001-01-10 2006-11-07 2019-01-22 2019-01-22 51455 ENSG00000135945 OTTHUMG00000130636 uc002tad.4 AF206019 NM_016316 "CCDS42722|CCDS2045" Q9UBZ9 10536157 MGI:1929074 RGD:1306715 606134 HGNC:14060 "ENST00000258428.8|NM_016316.4" +HGNC:9968 REV3L REV3 like, DNA directed polymerase zeta catalytic subunit protein-coding gene gene with protein product Approved 6q21 06q21 "POLZ|REV3" polymerase, DNA, zeta "REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta|REV3-like, catalytic subunit of DNA polymerase zeta (yeast)|REV3-like, polymerase (DNA directed), zeta, catalytic subunit" DNA polymerases 535 1998-07-15 2015-11-06 2016-10-05 5980 ENSG00000009413 OTTHUMG00000016318 uc003puy.6 AF058701 NM_002912 "CCDS69177|CCDS5091" O60673 "9618506|9925914" MGI:1337131 RGD:1307087 602776 438089 HGNC:9968 "ENST00000368802.8|NM_001372078.1" HGNC:9968 +HGNC:41377 REV3L-IT1 REV3L intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 REV3L intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 106478974 ENSG00000229276 OTTHUMG00000046182 uc063qqz.1 REV3L-IT1 +HGNC:26098 REX1BD required for excision 1-B domain containing protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ20850|FLJ30108|FLJ34606|FLJ37391" C19orf60 chromosome 19 open reading frame 60 2007-03-14 2017-07-20 2017-07-20 2017-08-17 55049 ENSG00000006015 OTTHUMG00000183112 uc002njv.5 AK000857 NM_017967 "CCDS46019|CCDS42524" Q96EN9 "19770013|12697762" MGI:1913712 RGD:1566239 HGNC:26098 "ENST00000358607.11|NM_001100418.2" +HGNC:24616 REXO1 RNA exonuclease 1 homolog protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "EloA-BP1|KIAA1138" elongin A binding protein 1 TCEB3BP1 "transcription elongation factor B polypeptide 3 binding protein 1|REX1, RNA exonuclease 1 homolog (S. cerevisiae)" "Exonucleases|MicroRNA protein coding host genes" "544|1691" 2004-01-16 2005-08-22 2016-06-22 2016-06-22 57455 ENSG00000079313 OTTHUMG00000179991 uc002lua.5 AB032964 NM_020695 CCDS32866 Q8N1G1 10574461 MGI:1914182 RGD:1309872 609614 HGNC:24616 "ENST00000170168.9|NM_020695.4" +HGNC:24660 REXO1L1P REXO1 like 1, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 GOR REXO1L1 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1|REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1, pseudogene|REX1, RNA exonuclease 1 homolog-like 1, pseudogene" 2005-08-22 2014-01-10 2017-05-12 2021-10-07 254958 ENSG00000205176 OTTHUMG00000164949 AF495523 NG_053157 Q8IX06 MGI:1914182 PGOHUM00000303283 HGNC:24660 +HGNC:32239 REXO1L2P REXO1 like 2, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2, pseudogene|REX1, RNA exonuclease 1 homolog-like 2, pseudogene" 2005-10-04 2017-05-12 2017-05-12 100288527 ENSG00000276998 OTTHUMG00000188058 NR_003594 PGOHUM00000303286 HGNC:32239 +HGNC:32240 REXO1L3P REXO1 like 3, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 3, pseudogene|REX1, RNA exonuclease 1 homolog-like 3, pseudogene" 2005-10-04 2017-05-12 2017-05-12 441359 ENSG00000273567 OTTHUMG00000185912 XM_496981 PGOHUM00000303282 HGNC:32240 +HGNC:32241 REXO1L4P REXO1 like 4, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 4, pseudogene|REX1, RNA exonuclease 1 homolog-like 4, pseudogene" 2005-10-04 2017-05-12 2017-05-12 653042 ENSG00000270416 OTTHUMG00000187498 NG_007182 PGOHUM00000303288 HGNC:32241 +HGNC:32242 REXO1L5P REXO1 like 5, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 5, pseudogene|REX1, RNA exonuclease 1 homolog-like 5, pseudogene" 2005-10-04 2017-05-12 2017-05-22 107986879 ENSG00000277436 OTTHUMG00000187497 NG_009317 PGOHUM00000303289 HGNC:32242 +HGNC:32243 REXO1L6P REXO1 like 6, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 REXO1L7P "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 7, pseudogene|REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 6, pseudogene|REX1, RNA exonuclease 1 homolog-like 6, pseudogene" 2005-10-04 2017-05-12 2017-05-12 441362 ENSG00000277422 OTTHUMG00000184704 NG_016769 PGOHUM00000303290 HGNC:32243 +HGNC:35429 REXO1L8P REXO1 like 8, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 REXO1L8 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 8|REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 8, pseudogene|REX1, RNA exonuclease 1 homolog-like 8, pseudogene" 2008-12-17 2012-10-08 2017-05-12 2017-05-12 392242 ENSG00000270971 OTTHUMG00000184830 NG_009604.1 PGOHUM00000303281 HGNC:35429 +HGNC:44432 REXO1L9P REXO1 like 9, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 9, pseudogene|REX1, RNA exonuclease 1 homolog-like 9, pseudogene" 2012-10-08 2017-05-12 2017-05-12 100506246 ENSG00000271381 OTTHUMG00000184804 NG_009315 PGOHUM00000303285 HGNC:44432 +HGNC:44433 REXO1L10P REXO1 like 10, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 10, pseudogene|REX1, RNA exonuclease 1 homolog-like 10, pseudogene" 2012-10-08 2017-05-12 2017-05-12 100288500 ENSG00000276540 OTTHUMG00000187503 NG_028288 PGOHUM00000303284 HGNC:44433 +HGNC:44434 REXO1L11P REXO1 like 11, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 11, pseudogene|REX1, RNA exonuclease 1 homolog-like 11, pseudogene" 2012-10-08 2017-05-12 2017-05-12 100288470 ENSG00000275928 OTTHUMG00000187502 NG_028287 PGOHUM00000303612 HGNC:44434 +HGNC:44435 REXO1L12P REXO1 like 12, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 "REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 12, pseudogene|REX1, RNA exonuclease 1 homolog-like 12, pseudogene" 2012-10-08 2017-05-12 2017-05-12 100289448 ENSG00000276006 OTTHUMG00000184581 NG_022425 PGOHUM00000303611 HGNC:44435 +HGNC:17851 REXO2 RNA exonuclease 2 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "DKFZP566E144|SFN|CGI-114" REX2, RNA exonuclease 2 homolog (S. cerevisiae) Exonucleases 544 2005-08-19 2013-06-10 2015-08-25 25996 ENSG00000076043 OTTHUMG00000168271 uc058hnt.1 AF151872 NM_015523 CCDS8371 Q9Y3B8 "10851236|10810093|23741365" MGI:1888981 RGD:1304874 607149 HGNC:17851 "ENST00000265881.10|NM_015523.4" HGNC:17851 +HGNC:12820 REXO4 REX4 homolog, 3'-5' exonuclease protein-coding gene gene with protein product Approved 9q34.2 09q34.2 hPMC2 XPMC2H "Xenopus prevents mitotic catatrophe 2 homolog|XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)|REX4, RNA exonuclease 4 homolog (S. cerevisiae)" Exonucleases 544 1997-01-20 2005-08-22 2015-07-10 2016-10-05 57109 ENSG00000148300 OTTHUMG00000020870 uc004cdm.5 AF273304 NM_001279349 "CCDS6969|CCDS65179" Q9GZR2 "9325058|21602889" MGI:2684957 RGD:1306220 602930 HGNC:12820 "ENST00000371942.8|NM_020385.4" +HGNC:24661 REXO5 RNA exonuclease 5 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 NEF-sp 2017-03-29 2018-06-04 81691 ENSG00000005189 OTTHUMG00000131556 AF332193 NM_030941 "CCDS45437|CCDS10591" Q96IC2 "28539487|29045842" MGI:1919402 RGD:1305412 HGNC:24661 "ENST00000261377.11|NM_030941.3" +HGNC:9969 RFC1 replication factor C subunit 1 protein-coding gene gene with protein product Approved 4p14 04p14 "A1|PO-GA|RFC140|MHCBFB" "replication factor C (activator 1) 1 (145kD)|replication factor C (activator 1) 1, 145kDa" AAA ATPases 413 1994-10-14 2015-11-09 2016-10-05 5981 ENSG00000035928 OTTHUMG00000099363 uc003gtx.3 L23320 NM_002913 "CCDS56329|CCDS3450" P35251 8114700 MGI:97891 RGD:620619 102579 HGNC:9969 "ENST00000349703.7|NM_002913.5" HGNC:9969 +HGNC:9970 RFC2 replication factor C subunit 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "A1|RFC40" activator 1 "replication factor C (activator 1) 2 (40kD)|replication factor C (activator 1) 2, 40kDa" AAA ATPases 413 1994-10-14 2015-11-09 2015-11-09 5982 ENSG00000049541 OTTHUMG00000023239 uc003uaj.5 NM_181471 "CCDS75618|CCDS5567|CCDS5568" P35250 "1313560|7774928" MGI:1341868 RGD:621198 600404 118283 HGNC:9970 "ENST00000055077.8|NM_181471.3" +HGNC:9971 RFC3 replication factor C subunit 3 protein-coding gene gene with protein product Approved 13q13.2 13q13.2 "RFC38|MGC5276" "RFC, 38 kD subunit|A1 38 kDa subunit" "replication factor C (activator 1) 3 (38kD)|replication factor C (activator 1) 3, 38kDa" AAA ATPases 413 1994-10-14 2015-11-09 2015-11-09 5983 ENSG00000133119 OTTHUMG00000016715 uc001uuz.4 NM_002915 "CCDS9352|CCDS45025" P40938 7774928 MGI:1916513 RGD:1306832 600405 HGNC:9971 "ENST00000380071.8|NM_002915.4" +HGNC:44531 RFC3P1 replication factor C 3 pseudogene 1 pseudogene pseudogene Approved 3p22.3 03p22.3 replication factor C (activator 1) 3, 38kDa pseudogene 1 2012-11-14 2015-11-16 2015-11-16 100131711 ENSG00000236158 OTTHUMG00000155793 NG_022200 PGOHUM00000237580 HGNC:44531 +HGNC:9972 RFC4 replication factor C subunit 4 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "A1|RFC37" "A1 37 kDa subunit|activator 1 37 kDa subunit|RFC 37 kDa subunit" "replication factor C (activator 1) 4 (37kD)|replication factor C (activator 1) 4, 37kDa" AAA ATPases 413 1994-10-14 2015-11-09 2016-10-05 5984 ENSG00000163918 OTTHUMG00000156515 uc011bsc.3 NM_002916 CCDS3283 P35249 7774928 MGI:2146571 RGD:1310142 102577 HGNC:9972 "ENST00000296273.7|NM_002916.5" +HGNC:9973 RFC5 replication factor C subunit 5 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 RFC36 "replication factor C (activator 1) 5 (36.5kD)|replication factor C (activator 1) 5, 36.5kDa" AAA ATPases 413 1994-10-14 2015-11-09 2016-10-05 5985 ENSG00000111445 OTTHUMG00000156438 uc001twq.4 NM_007370 "CCDS9185|CCDS41843" P40937 7774928 MGI:1919401 RGD:1309280 600407 HGNC:9973 "ENST00000454402.7|NM_007370.7" +HGNC:50450 RFC5P1 replication factor C 5 pseudogene 1 pseudogene pseudogene Approved 9q21.2 09q21.2 replication factor C (activator 1) 5, 36.5kDa pseudogene 1 2014-04-30 2015-11-16 2015-11-16 100421549 ENSG00000233526 OTTHUMG00000020053 NG_023928 PGOHUM00000236650 HGNC:50450 +HGNC:29587 RFESD Rieske Fe-S domain containing protein-coding gene gene with protein product Approved 5q15 05q15 Rieske (Fe-S) domain containing 2006-08-24 2016-01-28 2016-01-28 317671 ENSG00000175449 OTTHUMG00000121168 uc003klg.4 BC035110 NM_173362 "CCDS47248|CCDS4075" Q8TAC1 12477932 MGI:2145198 RGD:1308284 HGNC:29587 "ENST00000380005.9|NM_001131066.2" +HGNC:39420 RFESDP1 Rieske (Fe-S) domain containing pseudogene 1 pseudogene pseudogene Approved 13q12.12 13q12.12 2011-03-30 2011-03-30 100129167 ENSG00000231650 OTTHUMG00000016554 NG_028978 PGOHUM00000248525 HGNC:39420 +HGNC:24821 RFFL ring finger and FYVE like domain containing E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 17q12 17q12 "rififylin|fring|RNF189|RNF34L|CARP2|CARP-2" caspase 8 and 10 associated RING protein-2 ring finger and FYVE-like domain containing Ring finger proteins 58 2005-08-16 2016-08-08 2016-08-08 117584 ENSG00000092871 OTTHUMG00000132933 uc002hio.3 AF434816 NM_057178 CCDS11286 Q8WZ73 15229288 MGI:1914588 RGD:727916 609735 HGNC:24821 "ENST00000394597.7|NM_001017368.2" +HGNC:30324 RFK riboflavin kinase protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "FLJ11149|RIFK" 2004-05-12 2016-10-05 55312 ENSG00000135002 OTTHUMG00000020040 uc004akd.3 AK002011 NM_018339 CCDS35044 Q969G6 14580199 MGI:1914688 RGD:1549748 613010 470966 HGNC:30324 "ENST00000376736.6|NM_018339.6" +HGNC:39181 RFKP1 riboflavin kinase pseudogene 1 pseudogene pseudogene Approved 1q43 01q43 2010-11-16 2010-11-16 100313962 ENSG00000215802 OTTHUMG00000040502 NG_016107 PGOHUM00000244506 HGNC:39181 +HGNC:39182 RFKP2 riboflavin kinase pseudogene 2 pseudogene pseudogene Approved 3q13.2 03q13.2 2010-11-16 2010-11-16 100132753 ENSG00000239439 OTTHUMG00000159228 NG_016114 PGOHUM00000237720 HGNC:39182 +HGNC:27051 RFLNA refilin A protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ44614|Cfm2|RefilinA" FAM101A family with sequence similarity 101, member A 2006-01-16 2016-08-08 2016-08-08 2016-08-08 144347 ENSG00000178882 OTTHUMG00000168609 uc021rfy.2 NM_181709 CCDS9258 Q6ZTI6 "21709252|24436304" MGI:1920371 RGD:1588777 615927 HGNC:27051 "ENST00000546355.4|NM_001365156.1" +HGNC:28705 RFLNB refilin B protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "MGC45871|RefilinB|Cfm1" FAM101B family with sequence similarity 101, member B 2006-01-16 2016-08-08 2016-08-08 2016-10-05 359845 ENSG00000183688 OTTHUMG00000132483 uc002frj.4 NM_182705 Q8N5W9 "21709252|24436304" MGI:1923816 RGD:1359691 615928 HGNC:28705 +HGNC:9974 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "radical fringe (Drosophila) homolog|radical fringe homolog (Drosophila)" Beta 3-glycosyltransferases 426 1997-11-07 2006-11-13 2014-11-18 5986 ENSG00000169733 OTTHUMG00000178512 uc002kdj.3 BC069034 NM_002917 CCDS32773 Q9Y644 9187150 MGI:894275 RGD:621322 602578 2.4.1.222 HGNC:9974 "ENST00000310496.9|NM_002917.2" +HGNC:9977 RFPL1 ret finger protein like 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 RNF78 Ring finger proteins 58 1995-12-20 2016-03-11 2016-10-05 5988 ENSG00000128250 OTTHUMG00000150516 uc003afn.3 AJ010228 NM_021026 CCDS13857 O75677 10508838 MGI:2149590 605968 HGNC:9977 +HGNC:9978 RFPL1S RFPL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 "RFPL1-AS|NCRNA00006" non-protein coding RNA 6 RFPL1-AS1 RFPL1 antisense RNA 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 1998-11-04 2013-02-25 2012-08-15 2016-10-05 10740 ENSG00000225465 OTTHUMG00000030476 uc003afm.3 AJ010230 NR_002727 10508838 605972 RFPL1S HGNC:9978 +HGNC:9979 RFPL2 ret finger protein like 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 RNF79 Ring finger proteins 58 1998-11-04 2016-03-11 2019-08-20 10739 ENSG00000128253 OTTHUMG00000030374 uc003amg.4 AJ010231 NM_006605 CCDS43009 O75678 10508838 MGI:2149590 605969 HGNC:9979 "ENST00000652607.2|NM_001394555.1" +HGNC:9980 RFPL3 ret finger protein like 3 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 RNF120 Ring finger proteins 58 1998-11-04 2016-03-11 2017-12-15 10738 ENSG00000128276 OTTHUMG00000030290 uc010gwn.3 AJ010232 NM_006604 "CCDS13904|CCDS43011" O75679 "10508838|25107902" MGI:2149590 605970 HGNC:9980 "ENST00000249007.4|NM_001098535.1" +HGNC:9981 RFPL3S RFPL3 antisense non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 "RFPL3-AS|NCRNA00005" non-protein coding RNA 5 RFPL3-AS1 RFPL3 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 1998-11-04 2013-01-25 2013-01-25 2017-04-19 10737 ENSG00000205853 OTTHUMG00000030295 uc062dnc.1 AJ010233 NR_001450 P0C7P2 10508838 605971 HGNC:9981 +HGNC:16449 RFPL4A ret finger protein like 4A protein-coding gene gene with protein product Approved 19q13.42 19q13.42 RNF210 RFPL4 ret finger protein-like 4 Ring finger proteins 58 2001-09-04 2007-01-19 2016-03-11 2018-11-19 342931 ENSG00000223638 OTTHUMG00000165449 uc010yge.3 NM_001145014 CCDS46201 A6NLU0 11850190 MGI:2149590 RGD:1307409 612601 HGNC:16449 "ENST00000434937.3|NM_001145014.2" +HGNC:45147 RFPL4AL1 ret finger protein like 4A like 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 RNF210B ret finger protein-like 4A-like 1 Ring finger proteins 58 2013-02-22 2016-03-11 2017-12-15 729974 ENSG00000229292 OTTHUMG00000165450 uc031rnc.2 NM_001277397 CCDS59425 F8VTS6 MGI:2149590 HGNC:45147 "ENST00000341750.5|NM_001277397.2" +HGNC:45138 RFPL4AP1 ret finger protein like 4A pseudogene 1 pseudogene pseudogene Approved 19q13.42 19q13.42 ret finger protein-like 4A pseudogene 1 2013-02-22 2016-03-11 2016-03-11 646663 ENSG00000255238 OTTHUMG00000165451 NG_006134 PGOHUM00000234799 HGNC:45138 +HGNC:45145 RFPL4AP2 ret finger protein like 4A pseudogene 2 pseudogene pseudogene Approved 8q13.2 08q13.2 2013-02-22 2016-03-11 2016-03-11 100420059 NG_055258 PGOHUM00000249702 HGNC:45145 +HGNC:45139 RFPL4AP3 ret finger protein like 4A pseudogene 3 pseudogene pseudogene Approved 4p15.2 04p15.2 2013-02-22 2016-03-11 2016-03-11 106480810 ENSG00000251220 OTTHUMG00000160258 NG_045214 PGOHUM00000245479 HGNC:45139 +HGNC:45140 RFPL4AP4 ret finger protein like 4A pseudogene 4 pseudogene pseudogene Approved 4q31.23 04q31.23 2013-02-22 2016-03-11 2016-03-11 100420036 NG_025174 PGOHUM00000245725 HGNC:45140 +HGNC:45144 RFPL4AP5 ret finger protein like 4A pseudogene 5 pseudogene pseudogene Approved 8q24.13 08q24.13 2013-02-22 2016-03-11 2016-03-11 100420058 ENSG00000248720 OTTHUMG00000160498 NG_026072 PGOHUM00000249503 HGNC:45144 +HGNC:45142 RFPL4AP6 ret finger protein like 4A pseudogene 6 pseudogene pseudogene Approved 22q12.2 22q12.2 2013-02-22 2016-03-11 2016-08-22 100130079 ENSG00000278292 OTTHUMG00000188040 NG_022877 PGOHUM00000297733 HGNC:45142 +HGNC:45143 RFPL4AP7 ret finger protein like 4A pseudogene 7 pseudogene pseudogene Approved 8q11.21 08q11.21 2013-02-22 2016-03-11 2016-03-11 100420055 ENSG00000254268 OTTHUMG00000164209 NG_026025 PGOHUM00000249335 HGNC:45143 +HGNC:33264 RFPL4B ret finger protein like 4B protein-coding gene gene with protein product Approved 6q21 06q21 RNF211 Ring finger proteins 58 2007-01-19 2016-03-11 2016-03-11 442247 ENSG00000251258 OTTHUMG00000015390 uc003pvx.1 AK122906 NM_001013734 CCDS34515 Q6ZWI9 MGI:2684908 RGD:2323304 HGNC:33264 "ENST00000441065.3|NM_001013734.3" +HGNC:30220 RFT1 RFT1 homolog protein-coding gene gene with protein product Approved 3p21.1 03p21.1 CDG1N congenital disorder of glycosylation 1N "RFT1, requiring fifty three 1 homolog (S. cerevisiae)|RFT1 homolog (S. cerevisiae)" 2005-01-19 2015-07-10 2017-11-28 91869 ENSG00000163933 OTTHUMG00000074035 uc003dgj.4 AJ318099 NM_052859 CCDS2869 Q96AA3 18313027 MGI:3607791 RGD:1562654 611908 244547 HGNC:30220 "ENST00000296292.8|NM_052859.4" HGNC:30220 +HGNC:30278 RFTN1 raftlin, lipid raft linker 1 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 "MIG2|KIAA0084|FLJ23866|Raftlin" raft-linking protein 2006-09-28 2014-11-19 23180 ENSG00000131378 OTTHUMG00000156973 uc003cay.4 D42043 NM_015150 CCDS33712 Q14699 "7788527|12805216" MGI:1923688 RGD:1563347 618210 HGNC:30278 "ENST00000334133.9|NM_015150.2" +HGNC:23971 RFTN1P1 raftlin, lipid raft linker 1 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-04-09 2015-02-09 360015 ENSG00000234795 OTTHUMG00000041013 NG_002933 12815422 PGOHUM00000305431 HGNC:23971 +HGNC:26402 RFTN2 raftlin family member 2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "FLJ30574|Raftlin-2" C2orf11 chromosome 2 open reading frame 11 2003-12-19 2006-09-28 2006-09-28 2014-11-19 130132 ENSG00000162944 OTTHUMG00000132746 uc002uuo.5 AK055136 NM_144629 CCDS2323 Q52LD8 MGI:1921263 RGD:1307304 618215 HGNC:26402 "ENST00000295049.9|NM_144629.3" +HGNC:25539 RFWD3 ring finger and WD repeat domain 3 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "FLJ10520|RNF201|FANCW" "Ring finger proteins|WD repeat domain containing|FA complementation groups" "58|362|548" 2005-01-13 2017-07-18 55159 ENSG00000168411 OTTHUMG00000177368 uc002fda.4 AK001382 NM_018124 CCDS32486 Q6PCD5 "21504906|28691929" MGI:2384584 RGD:1305243 614151 HGNC:25539 "ENST00000361070.9|NM_018124.4" HGNC:25539 +HGNC:9982 RFX1 regulatory factor X1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 EF-C "trans-acting regulatory factor 1|enhancer factor C|MHC class II regulatory factor RFX" regulatory factor X, 1 (influences HLA class II expression) Regulatory factor X family 1153 1991-11-06 2015-11-30 2017-05-23 5989 ENSG00000132005 OTTHUMG00000181979 uc002mxv.4 NM_002918 CCDS12301 P22670 "1505960|8289803" MGI:105982 RGD:1306574 600006 HGNC:9982 "ENST00000254325.9|NM_002918.5" +HGNC:9983 RFX2 regulatory factor X2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ14226 "trans-acting regulatory factor 2|DNA binding protein RFX2|HLA class II regulatory factor RFX2" regulatory factor X, 2 (influences HLA class II expression) Regulatory factor X family 1153 1991-11-06 2015-11-30 2015-11-30 5990 ENSG00000087903 OTTHUMG00000180711 uc002meb.4 NM_000635 "CCDS12157|CCDS12158" P48378 1505960 MGI:106583 RGD:1588579 142765 HGNC:9983 "ENST00000303657.10|NM_000635.4" HGNC:9983 +HGNC:9984 RFX3 regulatory factor X3 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 regulatory factor X, 3 (influences HLA class II expression) Regulatory factor X family 1153 1996-08-16 2015-11-30 2015-11-30 5991 ENSG00000080298 OTTHUMG00000019456 uc010mhd.5 AI811824 NM_002919 "CCDS6450|CCDS6449|CCDS75809" P48380 8289803 MGI:106582 RGD:1307779 601337 HGNC:9984 "ENST00000617270.5|NM_001282116.2" HGNC:9984 +HGNC:51197 RFX3-DT RFX3 divergent transcript non-coding RNA RNA, long non-coding Approved 9p24.2 09p24.2 RFX3-AS1 RFX3 antisense RNA 1 Divergent transcripts 1990 2014-08-01 2021-07-21 2021-07-21 2021-07-21 101929302 ENSG00000232104 OTTHUMG00000019457 NR_121586 RFX3-AS1 HGNC:51197 +HGNC:9985 RFX4 regulatory factor X4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 regulatory factor X, 4 (influences HLA class II expression) Regulatory factor X family 1153 1997-07-11 2015-11-30 2016-10-05 5992 ENSG00000111783 OTTHUMG00000169173 uc001tlr.4 AB044245 NM_032491 "CCDS9106|CCDS55880|CCDS9108" Q33E94 "8600444|11682486" MGI:1918387 RGD:1562092 603958 HGNC:9985 "ENST00000392842.6|NM_213594.3" +HGNC:9986 RFX5 regulatory factor X5 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 regulatory factor X, 5 (influences HLA class II expression) Regulatory factor X family 1153 1997-07-11 2015-11-30 2021-05-26 5993 ENSG00000143390 OTTHUMG00000012495 uc001exw.2 NM_000449 CCDS994 P48382 9401005 MGI:1858421 RGD:1311677 "RFX5base: Mutation registry for MHCII promoter X box regulatory factor 5 deficiency|http://structure.bmc.lu.se/idbase/RFX5base/|LRG_101|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_101.xml" 601863 118286 HGNC:9986 "ENST00000452671.7|NM_001025603.2" HGNC:9986 +HGNC:40503 RFX5-AS1 RFX5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 GBAT2 glioblastoma multiforme-associated transcript 2 Antisense RNAs 1987 2020-03-19 2020-03-19 101927886 ENSG00000237976 OTTHUMG00000012496 NR_131972 +HGNC:21478 RFX6 regulatory factor X6 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "MGC33442|dJ955L16.1" DNA-binding protein RFX6 RFXDC1 "regulatory factor X domain containing 1|regulatory factor X, 6" Regulatory factor X family 1153 2003-06-16 2008-08-04 2015-11-30 2021-05-26 222546 ENSG00000185002 OTTHUMG00000015449 uc003pxm.4 BC039248 NM_173560 CCDS5113 Q8HWS3 MGI:2445208 RGD:1307491 612659 299156 HGNC:21478 "ENST00000332958.3|NM_173560.4" HGNC:21478 +HGNC:25777 RFX7 regulatory factor X7 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 FLJ12994 RFXDC2 "regulatory factor X domain containing 2|regulatory factor X, 7" Regulatory factor X family 1153 2005-07-25 2008-08-04 2015-11-30 2019-08-20 64864 ENSG00000181827 OTTHUMG00000172508 uc059jng.1 NM_022841 Q2KHR2 MGI:2442675 RGD:1308795 612660 HGNC:25777 "ENST00000559447.8|NM_022841.7" +HGNC:37253 RFX8 regulatory factor X8 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 FLJ42986 "regulatory factor X, 8|RFX gene family member 8, lacking RFX DNA binding domain|RFX family member 8, lacking RFX DNA binding domain" Regulatory factor X family 1153 2009-10-02 2020-08-19 2020-08-19 731220 ENSG00000196460 OTTHUMG00000130693 uc010yvx.2 AK124976 NM_001145664 CCDS46376 Q6ZV50 29510665 MGI:3588206 RGD:1560724 HGNC:37253 "ENST00000428343.6|NM_001145664.2" +HGNC:9987 RFXANK regulatory factor X associated ankyrin containing protein protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "BLS|RFX-B|ANKRA1|F14150_1|MGC138628" "ankyrin repeat-containing regulatory factor X-associated protein|regulatory factor X subunit B|RFX-Bdelta4|DNA-binding protein RFXANK" regulatory factor X-associated ankyrin-containing protein Ankyrin repeat domain containing 403 1998-11-19 2015-11-30 2021-05-26 8625 ENSG00000064490 OTTHUMG00000169224 uc002nls.4 AF094760 NM_003721 "CCDS12395|CCDS62611|CCDS12396" O14593 "9806546|10072068" MGI:1333865 RGD:1311390 "RFXANKbase: Mutation registry for Ankyrin repeat containing regulatory factor X-associated protein deficiency|http://structure.bmc.lu.se/idbase/RFXANKbase/|LRG_102|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_102.xml" 603200 118288 HGNC:9987 "ENST00000303088.9|NM_003721.4" HGNC:9987 +HGNC:9988 RFXAP regulatory factor X associated protein protein-coding gene gene with protein product Approved 13q13.3 13q13.3 regulatory factor X-associated protein 1997-11-05 2015-11-30 2021-05-26 5994 ENSG00000133111 OTTHUMG00000016738 uc001uvu.2 Y12812 NM_000538 CCDS9359 O00287 9118943 MGI:2180854 RGD:1565351 "RFXAPbase: Mutation registry for Regulatory factor X-associated protein deficiency|http://structure.bmc.lu.se/idbase/RFXAPbase/|LRG_103|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_103.xml" 601861 118293 HGNC:9988 "ENST00000255476.3|NM_000538.4" HGNC:9988 +HGNC:20369 RGCC regulator of cell cycle protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "bA157L14.2|RGC-32|RGC32" response gene to complement 32 C13orf15 chromosome 13 open reading frame 15 2004-04-16 2012-02-20 2012-02-20 2014-11-19 28984 ENSG00000102760 OTTHUMG00000016796 uc001uyi.3 AF036549 NM_014059 CCDS41880 Q9H4X1 "17146433|19158077|19652095" MGI:1913464 RGD:619721 610077 HGNC:20369 "ENST00000379359.4|NM_014059.3" +HGNC:30281 RGL1 ral guanine nucleotide dissociation stimulator like 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 RGL 2004-03-11 2016-03-14 2016-10-05 23179 ENSG00000143344 OTTHUMG00000035328 uc001gqm.4 AF186780 NM_015149 "CCDS1359|CCDS72992" Q9NZL6 "10760592|10231032" MGI:107484 RGD:1308947 605667 HGNC:30281 "ENST00000360851.4|NM_001297671.3" +HGNC:9769 RGL2 ral guanine nucleotide dissociation stimulator like 2 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "KE1.5|HKE1.5" RAB2L RAB2, member RAS oncogene family-like 1996-03-12 2004-06-16 2016-03-14 2016-10-05 5863 ENSG00000237441 OTTHUMG00000031072 uc011jao.3 NM_001243738 CCDS4774 O15211 8976381 MGI:107483 RGD:1302985 602306 HGNC:9769 "ENST00000497454.6|NM_004761.5" +HGNC:30282 RGL3 ral guanine nucleotide dissociation stimulator like 3 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ32585 2004-03-11 2016-03-14 2018-11-19 57139 ENSG00000205517 OTTHUMG00000172898 uc002mrp.3 BC014426 NM_001161616 "CCDS54221|CCDS32910" Q3MIN7 10869344 MGI:1918996 RGD:1309756 616743 HGNC:30282 "ENST00000380456.8|NM_001035223.4" +HGNC:31911 RGL4 ral guanine nucleotide dissociation stimulator like 4 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 Rgr RalGDS related oncogene 2008-02-22 2016-03-14 2016-03-14 266747 ENSG00000159496 OTTHUMG00000150711 uc002zxn.4 NM_153615 CCDS13811 Q8IZJ4 "9178890|10851075" 612214 HGNC:31911 "ENST00000290691.10|NM_153615.2" +HGNC:30308 RGMA repulsive guidance molecule BMP co-receptor a protein-coding gene gene with protein product Approved 15q26.1 15q26.1 RGM "RGM domain family, member A|repulsive guidance molecule family member a" Repulsive guidance molecule family 1587 2004-02-04 2018-01-11 2020-05-04 56963 ENSG00000182175 OTTHUMG00000171781 uc002bss.3 AL390083 NM_020211 "CCDS53974|CCDS53973|CCDS45357" Q96B86 15975920 MGI:2679262 RGD:1311983 607362 470968 objectId:2911 HGNC:30308 "ENST00000329082.12|NM_020211.3" +HGNC:26896 RGMB repulsive guidance molecule BMP co-receptor b protein-coding gene gene with protein product Approved 5q15 05q15 "FLJ90406|DRAGON" "RGM domain family, member B|repulsive guidance molecule family member b" Repulsive guidance molecule family 1587 2004-02-04 2018-01-11 2018-01-11 285704 ENSG00000174136 OTTHUMG00000162745 uc003knc.3 AK074887 NM_173670 CCDS47251 Q6NW40 19324014 MGI:1916049 RGD:1595392 612687 HGNC:26896 "ENST00000513185.3|NM_001366508.1" +HGNC:48666 RGMB-AS1 RGMB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q15 05q15 Antisense RNAs 1987 2013-06-04 2017-07-05 503569 ENSG00000246763 OTTHUMG00000162743 NR_033932 "26055877|26950071" RGMB-AS1 HGNC:48666 +HGNC:9989 RGN regucalcin protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "SMP30|RC" "senescence marker protein-30|gluconolactonase" regucalcin (senescence marker protein-30) 1999-02-03 2013-04-26 2015-08-25 9104 ENSG00000130988 OTTHUMG00000021435 uc004dgz.2 D31815 NM_004683 "CCDS14272|CCDS75968" Q15493 7548213 MGI:108024 RGD:3560 300212 3.1.1.17 HGNC:9989 "ENST00000397180.6|NM_152869.4" +HGNC:21965 RGP1 RGP1 homolog, RAB6A GEF complex partner 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 KIAA0258 "KIAA0258|RGP1 retrograde golgi transport homolog (S. cerevisiae)" 2003-11-24 2007-10-18 2015-07-22 2016-04-25 9827 ENSG00000107185 OTTHUMG00000019873 uc011lpf.3 D87447 NM_014785 CCDS47964 Q92546 23091056 MGI:1915956 RGD:1311757 615742 HGNC:21965 "ENST00000378078.5|NM_001080496.3" +HGNC:32414 RGPD1 RANBP2 like and GRIP domain containing 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 RGP1 Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2019-02-18 400966 ENSG00000187627 OTTHUMG00000153248 uc021vkh.2 NM_001024457 CCDS46358 P0DJD0 "15710750|15815621" MGI:894323 612704 HGNC:32414 "ENST00000641458.2|NM_001382344.1" +HGNC:32415 RGPD2 RANBP2 like and GRIP domain containing 2 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "RGP2|RANBP2L2" Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2019-02-18 729857 ENSG00000185304 OTTHUMG00000153276 uc010fhc.3 NM_001078170 CCDS42710 P0DJD1 "15710750|15815621" MGI:894323 612705 HGNC:32415 "ENST00000398146.5|NM_001078170.3" +HGNC:32416 RGPD3 RANBP2 like and GRIP domain containing 3 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 RGP3 Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2019-02-18 653489 ENSG00000153165 OTTHUMG00000153182 uc010ywi.2 NM_001144013 CCDS46379 A6NKT7 "15710750|15815621" MGI:894323 612706 HGNC:32416 "ENST00000409886.4|NM_001144013.2" +HGNC:32417 RGPD4 RANBP2 like and GRIP domain containing 4 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "RGP4|DKFZp686P0288" Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2019-02-18 285190 ENSG00000196862 OTTHUMG00000153208 uc010ywk.3 BX537861 NM_182588 CCDS46381 Q7Z3J3 "15710750|15815621" MGI:894323 612707 HGNC:32417 "ENST00000408999.4|NM_182588.3" +HGNC:49273 RGPD4-AS1 RGPD4 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 2q12.3 02q12.3 Antisense RNAs 1987 2013-10-15 2013-10-15 729121 ENSG00000230651 OTTHUMG00000153314 NR_024439 RGPD4-AS1 HGNC:49273 +HGNC:32418 RGPD5 RANBP2 like and GRIP domain containing 5 protein-coding gene gene with protein product Approved 2q13 02q13 "RGP5|BS-63|DKFZp686I1842" Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2019-02-18 84220 ENSG00000015568 OTTHUMG00000130985 uc061mtq.1 U64675 NM_005054 "CCDS2083|CCDS2082" Q99666 "15710750|15815621" 612708 HGNC:32418 "ENST00000016946.8|NM_005054.3" +HGNC:32419 RGPD6 RANBP2 like and GRIP domain containing 6 protein-coding gene gene with protein product Approved 2q13 02q13 RGP6 Tetratricopeptide repeat domain containing 769 2005-12-15 2019-02-18 2019-02-18 729540 ENSG00000183054 OTTHUMG00000153196 uc061mvo.1 AK056675 NM_001123363 "CCDS42729|CCDS46388" Q99666 "15710750|15815621|9480752" MGI:894323 612709 HGNC:32419 "ENST00000329516.8|NM_001123363.4" +HGNC:9849 RGPD8 RANBP2 like and GRIP domain containing 8 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 RanBP2alpha RANBP2L1 RAN binding protein 2-like 1 Tetratricopeptide repeat domain containing 769 1998-05-01 2005-12-20 2019-02-18 2019-02-18 727851 ENSG00000169629 OTTHUMG00000153289 uc002ths.3 AF012086 NM_001164463 CCDS46394 O14715 9480752 MGI:894323 602752 HGNC:9849 "ENST00000302558.8|NM_001164463.1" +HGNC:9990 RGR retinal G protein coupled receptor protein-coding gene gene with protein product Approved 10q23.1 10q23.1 RP44 RGR-opsin Opsin receptors 215 1995-11-28 2016-10-05 5995 ENSG00000148604 OTTHUMG00000018636 uc001kdd.2 BC011349 NM_002921 "CCDS41543|CCDS7374" P47804 8641686 MGI:1929473 RGD:1309174 Mutations of the RPE-Retinal G-Protein-Coupled Receptor|http://www.retina-international.org/files/sci-news/rgrmut.htm 600342 118295 HGNC:9990 "ENST00000652092.2|NM_001012720.2" HGNC:9990 +HGNC:9991 RGS1 regulator of G protein signaling 1 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "1R20|IR20|BL34" IER1 "regulator of G-protein signalling 1|regulator of G-protein signaling 1" Regulators of G-protein signaling 720 1995-11-27 2017-04-13 2017-04-13 5996 ENSG00000090104 OTTHUMG00000035598 uc001gsi.2 AF493925 NM_002922 CCDS1375 Q08116 "8241276|8602223" MGI:1354694 RGD:3561 600323 objectId:2804 HGNC:9991 "ENST00000367459.8|NM_002922.4" +HGNC:9998 RGS2 regulator of G protein signaling 2 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 G0S8 "regulator of G-protein signalling 2, 24kD|regulator of G-protein signalling 2, 24kDa|regulator of G-protein signaling 2, 24kDa|regulator of G-protein signaling 2" "Receptor ligands|Regulators of G-protein signaling" "542|720" 1994-11-01 2017-04-13 2017-04-13 5997 ENSG00000116741 OTTHUMG00000035600 uc001gsl.4 L13463 NM_002923 CCDS1377 P41220 8179820 MGI:1098271 RGD:621665 600861 470972 objectId:2808 HGNC:9998 "ENST00000235382.7|NM_002923.4" +HGNC:49018 RGS2-AS1 RSG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q31.2 01q31.2 LINC01032 long intergenic non-protein coding RNA 1032 Antisense RNAs 1987 2013-08-08 2020-01-24 2020-01-24 2020-01-24 102724954 OTTHUMG00000041137 AW104394 NR_126003 LINC01032 HGNC:49018 +HGNC:9999 RGS3 regulator of G protein signaling 3 protein-coding gene gene with protein product Approved 9q32 09q32 "C2PA|FLJ20370|PDZ-RGS3" "regulator of G-protein signalling 3|regulator of G-protein signaling 3" "Regulators of G-protein signaling|C2 domain containing|PDZ domain containing" "720|823|1220" 1997-06-09 2017-04-13 2017-04-13 5998 ENSG00000138835 OTTHUMG00000021048 uc004bhq.5 AF006610 NM_017790 "CCDS65111|CCDS35113|CCDS6798|CCDS6797" P49796 "8602223|11034339" MGI:1354734 RGD:3566 602189 objectId:2810 HGNC:9999 +HGNC:10000 RGS4 regulator of G protein signaling 4 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 SCZD9 "regulator of G-protein signalling 4|schizophrenia disorder 9|regulator of G-protein signaling 4" Regulators of G-protein signaling 720 1997-06-09 2017-04-13 2017-04-13 5999 ENSG00000117152 OTTHUMG00000034417 uc009wuy.4 BC051869 NM_005613 "CCDS44272|CCDS1243|CCDS44271|CCDS44270" P49798 "8602223|8756726" MGI:108409 RGD:3567 602516 objectId:2811 HGNC:10000 "ENST00000367909.11|NM_005613.6" +HGNC:10001 RGS5 regulator of G protein signaling 5 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "regulator of G-protein signalling 5|regulator of G-protein signaling 5" Regulators of G-protein signaling 720 1998-10-12 2017-04-13 2017-04-13 8490 ENSG00000143248 OTTHUMG00000034441 uc001gcn.4 AF030108 NM_003617 "CCDS58041|CCDS1244|CCDS55652" O15539 9747037 MGI:1098434 RGD:3568 603276 objectId:2812 HGNC:10001 "ENST00000313961.10|NM_003617.4" HGNC:10001 +HGNC:40504 RGS5-AS1 RGS5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Antisense RNAs 1987 2020-03-19 2020-03-19 101928404 ENSG00000232892 OTTHUMG00000033126 NR_110699 +HGNC:10002 RGS6 regulator of G protein signaling 6 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "regulator of G-protein signalling 6|regulator of G-protein signaling 6" "Regulators of G-protein signaling|MicroRNA protein coding host genes" "720|1691" 1999-05-17 2017-04-13 2017-04-13 9628 ENSG00000182732 OTTHUMG00000171340 uc001xmx.5 AF073920 NM_001204416 "CCDS73655|CCDS9808|CCDS55924" P49758 "10083744|14734556" MGI:1354730 RGD:3569 603894 objectId:2815 HGNC:10002 "ENST00000553525.6|NM_001204424.2" +HGNC:10003 RGS7 regulator of G protein signaling 7 protein-coding gene gene with protein product Approved 1q43 01q43 "regulator of G-protein signalling 7|regulator of G-protein signaling 7" Regulators of G-protein signaling 720 1997-03-19 2017-04-13 2021-05-26 6000 ENSG00000182901 OTTHUMG00000040107 uc001hyv.4 BC022009 NM_002924 "CCDS60457|CCDS60458|CCDS60459|CCDS31071" P49802 8548815 MGI:1346089 RGD:3570 602517 objectId:2816 HGNC:10003 "ENST00000440928.6|NM_001364886.1" +HGNC:23271 RGS7BP regulator of G protein signaling 7 binding protein protein-coding gene gene with protein product Approved 5q12.3 05q12.3 R7BP "regulator of G-protein signalling 7 binding protein|regulator of G-protein signaling 7 binding protein" 2006-10-05 2017-04-13 2017-04-13 401190 ENSG00000186479 OTTHUMG00000162293 uc003jtj.5 BX640900 NM_001029875 CCDS34170 Q6MZT1 15632198 MGI:106334 RGD:1309360 610890 HGNC:23271 "ENST00000334025.3|NM_001029875.3" +HGNC:16810 RGS8 regulator of G protein signaling 8 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "MGC119067|MGC119068|MGC119069" "regulator of G-protein signalling 8|regulator of G-protein signaling 8" Regulators of G-protein signaling 720 2001-10-08 2017-04-13 2017-04-13 85397 ENSG00000135824 OTTHUMG00000035219 uc001gpn.2 AF297015 NM_033345 "CCDS1349|CCDS41443" P57771 11318611 MGI:108408 RGD:3571 607189 objectId:2813 HGNC:16810 +HGNC:10004 RGS9 regulator of G protein signaling 9 protein-coding gene gene with protein product Approved 17q24.1 17q24.1 "PERRS|RGS9L|MGC26458|MGC111763" "regulator of G protein signalling 9|regulator of G protein signalling 9L|regulator of G-protein signaling 9L" "regulator of G-protein signalling 9|regulator of G-protein signaling 9" Regulators of G-protein signaling 720 1998-12-15 2017-04-13 2021-05-26 8787 ENSG00000108370 OTTHUMG00000179349 uc002jfe.4 AF071476 NM_003835 "CCDS42373|CCDS45764" O75916 9765512 MGI:1338824 RGD:3572 604067 118299 objectId:2817 HGNC:10004 "ENST00000262406.10|NM_003835.4" HGNC:10004 +HGNC:30304 RGS9BP regulator of G protein signaling 9 binding protein protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "FLJ45744|PERRS|R9AP" "regulator of G protein signalling 9 binding protein|regulator of G-protein signaling 9 binding protein" 2006-10-05 2017-04-13 2020-04-28 388531 ENSG00000186326 OTTHUMG00000180227 uc002ntp.1 AW302149 NM_207391 CCDS12424 Q6ZS82 "12119397|8889548" MGI:2384418 RGD:1561747 607814 118301 HGNC:30304 "ENST00000334176.4|NM_207391.3" HGNC:30304 +HGNC:9992 RGS10 regulator of G protein signaling 10 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 "regulator of G-protein signalling 10|regulator of G-protein signaling 10" Regulators of G-protein signaling 720 1998-03-17 2017-04-13 2017-04-13 6001 ENSG00000148908 OTTHUMG00000019150 uc001leg.4 AF045229 NM_002925 "CCDS31294|CCDS41572" O43665 8774883 MGI:1915115 RGD:3562 602856 objectId:2818 HGNC:9992 "ENST00000369103.3|NM_001005339.2" +HGNC:9993 RGS11 regulator of G protein signaling 11 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "regulator of G-protein signalling 11|regulator of G-protein signaling 11" Regulators of G-protein signaling 720 1998-12-15 2017-04-13 2017-04-13 8786 ENSG00000076344 OTTHUMG00000064893 uc002cgj.3 AF035153 NM_001286485 "CCDS42088|CCDS10403|CCDS66884" O94810 9789084 MGI:1354739 RGD:3563 603895 objectId:2814 HGNC:9993 "ENST00000397770.8|NM_183337.3" +HGNC:9994 RGS12 regulator of G protein signaling 12 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "regulator of G-protein signalling 12|regulator of G-protein signaling 12" "Regulators of G-protein signaling|PDZ domain containing" "720|1220" 1998-07-24 2017-04-13 2017-04-13 6002 ENSG00000159788 OTTHUMG00000090277 uc003ggw.4 AF035152 NM_002926 "CCDS3366|CCDS3367|CCDS3368" O14924 9651375 MGI:1918979 RGD:3564 602512 objectId:2819 HGNC:9994 "ENST00000336727.8|NM_001394154.1" +HGNC:9995 RGS13 regulator of G protein signaling 13 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "regulator of G-protein signalling 13|regulator of G-protein signaling 13" Regulators of G-protein signaling 720 1998-04-01 2017-04-13 2017-04-13 6003 ENSG00000127074 OTTHUMG00000035601 uc001gsk.4 AF030107 NM_002927 CCDS1376 O14921 11875076 MGI:2180585 RGD:1562103 607190 objectId:2805 HGNC:9995 "ENST00000391995.7|NM_002927.5" +HGNC:9996 RGS14 regulator of G protein signaling 14 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "regulator of G-protein signalling 14|regulator of G-protein signaling 14" Regulators of G-protein signaling 720 1999-07-06 2017-04-13 2017-04-13 10636 ENSG00000169220 OTTHUMG00000163324 uc003mgf.4 AF037195 NM_006480 CCDS43405 O43566 MGI:1859709 RGD:620003 602513 objectId:2820 HGNC:9996 "ENST00000408923.8|NM_006480.5" +HGNC:9997 RGS16 regulator of G protein signaling 16 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "A28-RGS14|RGS-r" "regulator of G-protein signalling 16|regulator of G-protein signaling 16" Regulators of G-protein signaling 720 1998-03-17 2017-04-13 2017-04-13 6004 ENSG00000143333 OTTHUMG00000035212 uc001gpl.5 U70426 NM_002928 CCDS1348 O15492 9469939 MGI:108407 RGD:1589741 602514 objectId:2806 HGNC:9997 "ENST00000367558.6|NM_002928.4" +HGNC:14088 RGS17 regulator of G protein signaling 17 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "RGSZ2|RGS-17" "regulator of G-protein signalling 17|regulator of G-protein signaling 17" Regulators of G-protein signaling 720 2000-11-29 2017-04-13 2017-04-13 26575 ENSG00000091844 OTTHUMG00000015858 uc003qpm.4 AF202257 NM_012419 CCDS5244 Q9UGC6 10419452 MGI:1927469 RGD:1305515 607191 objectId:2801 HGNC:14088 "ENST00000206262.2|NM_012419.5" +HGNC:39729 RGS17P1 regulator of G protein signaling 17 pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 regulator of G-protein signaling 17 pseudogene 1 2011-03-24 2017-04-13 2017-04-13 100128628 ENSG00000229473 OTTHUMG00000016782 NG_011456 PGOHUM00000248378 HGNC:39729 +HGNC:14261 RGS18 regulator of G protein signaling 18 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 RGS13 "regulator of G-protein signalling 18|regulator of G-protein signaling 18" Regulators of G-protein signaling 720 2000-12-15 2017-04-13 2017-04-13 64407 ENSG00000150681 OTTHUMG00000035592 uc001gsg.4 AF268036 NM_130782 CCDS1374 Q9NS28 11042171 MGI:1927498 RGD:1306522 607192 470970 objectId:2807 HGNC:14261 "ENST00000367460.4|NM_130782.3" +HGNC:13735 RGS19 regulator of G protein signaling 19 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "GAIP|RGSGAIP" "regulator of G-protein signalling 19|regulator of G-protein signaling 19" "Regulators of G-protein signaling|MicroRNA protein coding host genes" "720|1691" 2001-01-10 2017-04-13 2017-04-13 10287 ENSG00000171700 OTTHUMG00000033024 uc002yib.5 X91809 NM_005873 CCDS13555 P49795 8524874 MGI:1915153 RGD:629471 605071 objectId:2802 HGNC:13735 "ENST00000395042.2|NM_005873.3" +HGNC:14600 RGS20 regulator of G protein signaling 20 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "RGSZ1|ZGAP1" "regulator of G-protein signalling 20|regulator of G-protein signaling 20" Regulators of G-protein signaling 720 2001-02-09 2017-04-13 2017-04-13 8601 ENSG00000147509 OTTHUMG00000164750 uc003xrp.5 AF074979 NM_001286673 "CCDS69482|CCDS6156|CCDS6155" O76081 "9748279|9748280" MGI:1929866 RGD:1586146 607193 objectId:2803 HGNC:14600 "ENST00000297313.8|NM_170587.4" +HGNC:26839 RGS21 regulator of G protein signaling 21 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "regulator of G-protein signalling 21|regulator of G-protein signaling 21" Regulators of G-protein signaling 720 2004-06-28 2017-04-13 2017-04-13 431704 ENSG00000253148 OTTHUMG00000035594 uc001gsh.4 AY643711 NM_001039152 CCDS41448 Q2M5E4 15066150 MGI:3645243 RGD:2320695 612407 objectId:2809 HGNC:26839 "ENST00000417209.2|NM_001039152.3" +HGNC:24499 RGS22 regulator of G protein signaling 22 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "DKFZP434I092|PRTD-NY2|CT145" "regulator of G-protein signalling 22|regulator of G-protein signaling 22" "Regulators of G-protein signaling|MicroRNA protein coding host genes" "720|1691" 2005-02-23 2017-04-13 2017-04-13 26166 ENSG00000132554 OTTHUMG00000164802 uc003yjb.2 AY009106 NM_015668 "CCDS75775|CCDS43758|CCDS69521" Q8NE09 MGI:3613651 RGD:1565493 615650 HGNC:24499 "ENST00000360863.11|NM_015668.5" +HGNC:18636 RGSL1 regulator of G protein signaling like 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 RGSL2 "regulator of G-protein signalling like 1|regulator of G-protein signaling like 2|regulator of G-protein signalling like 2|regulator of G-protein signaling like 1" 2003-12-05 2017-04-13 2017-04-13 353299 ENSG00000121446 OTTHUMG00000035217 uc009wxw.5 AF510428 NM_181572 CCDS58049 A5PLK6 12801632 MGI:2685048 RGD:1584051 611012 HGNC:18636 "ENST00000294854.13|NM_001137669.2" +HGNC:10006 RHAG Rh associated glycoprotein protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "RH50A|CD241|SLC42A1" Ammonium transporter Rh type A Rhesus blood group-associated glycoprotein "Blood group antigens|CD molecules|Solute carriers" "454|471|752" 1993-11-30 2017-09-12 2021-05-26 6005 ENSG00000112077 OTTHUMG00000016377 uc003ozk.5 NM_000324 CCDS4927 Q02094 "22012326|9479501" MGI:1202713 RGD:61871 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_822|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_822.xml" 180297 SLC42A1 118307 objectId:1198 CD241 HGNC:10006 "ENST00000371175.10|NM_000324.3" HGNC:10006 +HGNC:23081 RHBDD1 rhomboid domain containing 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 DKFZp547E052 Rhomboid family 926 2006-02-22 2014-11-19 84236 ENSG00000144468 OTTHUMG00000133178 uc002voi.4 AK074258 NM_001167608 CCDS2464 Q8TEB9 12838346 MGI:1924117 RGD:1306477 617515 S54.008 HGNC:23081 "ENST00000392062.7|NM_001167608.3" +HGNC:23082 RHBDD2 rhomboid domain containing 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 NPD007 RHBDL7 rhomboid, veinlet-like 7 (Drosophila) Rhomboid family 926 2004-10-20 2006-02-22 2006-02-22 2016-10-05 57414 ENSG00000005486 OTTHUMG00000156435 uc064emv.1 AF226732 NM_020684 "CCDS43603|CCDS43602" Q6NTF9 12838346 MGI:1915612 RGD:1308231 615203 S54.955 HGNC:23082 "ENST00000006777.11|NM_001040456.3" +HGNC:1308 RHBDD3 rhomboid domain containing 3 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 PTAG C22orf3 chromosome 22 open reading frame 3 Rhomboid family 926 2000-03-29 2006-02-22 2006-02-22 2020-09-17 25807 ENSG00000100263 OTTHUMG00000151032 uc003aeq.2 AL050346 NM_012265 CCDS13850 Q9Y3P4 "10591208|15105437" MGI:2444684 RGD:1311827 S54.951 HGNC:1308 "ENST00000216085.12|NM_012265.3" +HGNC:20561 RHBDF1 rhomboid 5 homolog 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "EGFR-RS|FLJ2235|Dist1|iRhom1" C16orf8 "chromosome 16 open reading frame 8|rhomboid family 1 (Drosophila)|rhomboid 5 homolog 1 (Drosophila)" Rhomboid family 926 2003-04-07 2016-05-09 2016-05-09 64285 ENSG00000007384 OTTHUMG00000060719 uc002cfl.4 BC014425 NM_022450 CCDS32344 Q96CC6 "8318735|15965977" MGI:104328 RGD:1305075 614403 S54.952 HGNC:20561 "ENST00000262316.10|NM_022450.5" +HGNC:44499 RHBDF1P1 RHBDF1 pseudogene 1 pseudogene pseudogene Approved 3p25.1 03p25.1 2012-11-12 2014-12-17 2014-12-17 131973 ENSG00000234123 OTTHUMG00000155546 NG_022195 PGOHUM00000237542 HGNC:44499 +HGNC:20788 RHBDF2 rhomboid 5 homolog 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ22341|RHBDL5|TOCG|iRhom2" "RHBDL6|TOC" "rhomboid, veinlet-like 6 (Drosophila)|tylosis with oesophageal cancer|rhomboid 5 homolog 2 (Drosophila)" Rhomboid family 926 2004-07-07 2006-02-22 2016-05-09 2021-04-13 79651 ENSG00000129667 OTTHUMG00000180180 uc060kji.1 BC016034 NM_024599 "CCDS32744|CCDS32743" Q6PJF5 "12838346|22265016" MGI:2442473 RGD:1309699 LRG_532|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_532.xml 614404 292385 S54.953 HGNC:20788 "ENST00000675367.1|NM_001005498.4" HGNC:20788 +HGNC:10007 RHBDL1 rhomboid like 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 RRP RHBDL "rhomboid (veinlet, Drosophila)-like|rhomboid, veinlet-like 1 (Drosophila)" Rhomboid family 926 1999-01-20 2003-04-11 2016-05-09 2016-05-09 9028 ENSG00000103269 OTTHUMG00000121141 uc002cir.2 Y17108 NM_003961 "CCDS61779|CCDS10418" O75783 9662444 MGI:2384891 RGD:620699 603264 S54.005 3.4.21.105 HGNC:10007 "ENST00000352681.8|NM_001278720.2" +HGNC:16083 RHBDL2 rhomboid like 2 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ20435 "rhomboid (veinlet, Drosophila)-like 2|rhomboid, veinlet-like 2 (Drosophila)" Rhomboid family 926 2001-07-20 2016-05-09 2016-10-05 54933 ENSG00000158315 OTTHUMG00000000487 uc001ccu.1 AK000442 NM_017821 CCDS30680 Q9NX52 MGI:3608413 RGD:1308295 608962 S54.002 3.4.21.105 HGNC:16083 "ENST00000372990.6|NM_017821.5" +HGNC:16502 RHBDL3 rhomboid like 3 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 VRHO RHBDL4 "rhomboid, veinlet-like 4 (Drosophila)|rhomboid, veinlet-like 3 (Drosophila)" "EF-hand domain containing|Rhomboid family" "863|926" 2001-11-26 2016-05-09 2019-08-21 162494 ENSG00000141314 OTTHUMG00000179568 uc002hhe.1 AJ313480 NM_138328 "CCDS82103|CCDS32613" P58872 11900977 MGI:2179276 RGD:1311901 619017 3.4.21.105 HGNC:16502 "ENST00000269051.9|NM_138328.3" +HGNC:14572 RHBG Rh family B glycoprotein protein-coding gene gene with protein product Approved 1q22 01q22 SLC42A2 "Rhesus blood group, B glycoprotein|Rh family B glycoprotein (gene/pseudogene)" Solute carriers 752 2001-05-08 2020-05-01 2020-05-01 57127 ENSG00000132677 OTTHUMG00000024057 uc031vbi.2 AF193807 NM_001256395 CCDS41414 Q9H310 10852913 MGI:1927379 RGD:727813 607079 SLC42A2 objectId:1199 HGNC:14572 "ENST00000537040.6|NM_020407.5" +HGNC:10008 RHCE Rh blood group CcEe antigens protein-coding gene gene with protein product Approved 1p36.11 01p36.11 CD240CE RH Rhesus blood group, CcEe antigens "Blood group antigens|CD molecules" "454|471" 1993-10-22 2016-01-13 2021-05-26 6006 ENSG00000188672 OTTHUMG00000007650 uc001bkf.4 BC075081 NM_020485 "CCDS30634|CCDS81283|CCDS30635|CCDS30636|CCDS30637" P18577 8220426 MGI:1202882 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_797|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_797.xml" 111700 118311 CD240CE HGNC:10008 "ENST00000294413.13|NM_020485.8" HGNC:10008 +HGNC:18140 RHCG Rh family C glycoprotein protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "RHGK|PDRC2|SLC42A3" C15orf6 "chromosome 15 open reading frame 6|Rhesus blood group, C glycoprotein" Solute carriers 752 2002-11-26 2016-01-13 2016-10-05 51458 ENSG00000140519 OTTHUMG00000149647 uc002bnz.4 AF081497 NM_016321 CCDS10351 Q9UBD6 10852913 MGI:1888517 RGD:727859 605381 SLC42A3 objectId:1200 HGNC:18140 "ENST00000268122.9|NM_016321.3" +HGNC:10009 RHD Rh blood group D antigen protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "Rh30a|Rh4|RhPI|RhII|DIIIc|CD240D" RH Rhesus blood group, D antigen "Blood group antigens|CD molecules" "454|471" 1986-01-01 2016-01-13 2021-05-26 6007 ENSG00000187010 OTTHUMG00000003476 uc001bjz.5 AB012623 NM_016124 "CCDS53285|CCDS60030|CCDS262|CCDS60029|CCDS60031|CCDS60028|CCDS60027" Q02161 8220426 MGI:1202882 RGD:620451 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_796|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_796.xml" 111680 286217 CD240D HGNC:10009 "ENST00000328664.9|NM_016124.6" HGNC:10009 +HGNC:10011 RHEB Ras homolog, mTORC1 binding protein-coding gene gene with protein product Approved 7q36.1 07q36.1 RHEB2 "Ras homolog enriched in brain 2|Ras homolog enriched in brain" RAS type GTPase family 389 1996-07-17 2003-07-14 2017-08-07 2018-07-26 6009 ENSG00000106615 OTTHUMG00000157330 uc003wkh.1 D78132 NM_005614 CCDS5927 Q15382 "15854902|8661031" MGI:97912 RGD:621840 601293 470974 HGNC:10011 "ENST00000262187.10|NM_005614.4" HGNC:10011 +HGNC:21166 RHEBL1 RHEB like 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "MGC34869|FLJ25797|RHEB2" Ras homolog enriched in brain like 1 RAS type GTPase family 389 2003-05-22 2017-08-07 2017-08-07 121268 ENSG00000167550 OTTHUMG00000170407 uc001rtc.2 AK098663 NM_144593 CCDS8778 Q8TAI7 16098514 MGI:1916409 RGD:727778 618956 HGNC:21166 "ENST00000301068.11|NM_144593.3" +HGNC:10010 RHEBP1 RHEB pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 RHEB RHEB1 "Ras homolog enriched in brain 1|Ras-homolog enriched in brain pseudogene 1" 1995-11-14 2003-07-16 2017-08-07 2017-08-07 6008 ENSG00000229927 OTTHUMG00000018102 NG_002826 8206940 470976 PGOHUM00000289843 HGNC:10010 +HGNC:44991 RHEBP2 RHEB pseudogene 2 pseudogene pseudogene Approved 10q11.22 10q11.22 Ras-homolog enriched in brain pseudogene 2 2013-01-04 2017-08-07 2017-08-07 101060032 ENSG00000226964 OTTHUMG00000018122 PGOHUM00000238773 HGNC:44991 +HGNC:44992 RHEBP3 RHEB pseudogene 3 pseudogene pseudogene Approved 22q11.21 22q11.21 Ras-homolog enriched in brain pseudogene 3 2013-01-04 2017-08-07 2017-08-07 692231 ENSG00000237446 OTTHUMG00000150061 NG_005692 PGOHUM00000246394 HGNC:44992 +HGNC:25341 RHEX regulator of hemoglobinization and erythroid cell expansion protein-coding gene gene with protein product Approved 1q32.1 01q32.1 FLJ16052 regulator of human erythroid cell expansion C1orf186 chromosome 1 open reading frame 186 2005-08-12 2017-10-23 2017-10-23 2018-02-01 440712 ENSG00000263961 OTTHUMG00000184376 uc001hdt.3 AK122631 NM_001007544 CCDS73014 Q6ZWK4 25092874 616088 HGNC:25341 "ENST00000331555.10|NM_001007544.4" +HGNC:28206 RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "HKMT1188|MGC13204|RHINO" Rad9, Rad1, Hus1 interacting nuclear orphan C12orf32 chromosome 12 open reading frame 32 2006-01-17 2012-08-23 2012-08-23 2014-11-19 83695 ENSG00000171792 OTTHUMG00000158557 uc031qfr.2 AK021945 NM_031465 "CCDS58199|CCDS8518" Q9BSD3 "20811708|21659603" MGI:1915315 RGD:1359404 614085 HGNC:28206 "ENST00000489288.7|NM_001252499.3" +HGNC:10012 RHO rhodopsin protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "OPN2|CSNBAD1" opsin 2, rod pigment RP4 retinitis pigmentosa 4, autosomal dominant Opsin receptors 215 1986-01-01 2008-04-16 2015-08-04 6010 ENSG00000163914 OTTHUMG00000159542 uc003emt.4 AB065668 NM_000539 CCDS3063 P08100 2016091 MGI:97914 RGD:3573 Mutations of the Rhodopsin Gene|http://www.retina-international.org/files/sci-news/rhomut.htm 180380 118315 objectId:2963 HGNC:10012 "ENST00000296271.4|NM_000539.3" HGNC:10012 +HGNC:667 RHOA ras homolog family member A protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "Rho12|RHOH12" "ARH12|ARHA" ras homolog gene family, member A Rho family GTPases 390 1990-03-19 2004-03-23 2012-02-27 2021-04-13 387 ENSG00000067560 OTTHUMG00000156838 uc003cwu.4 BC001360 NM_001664 "CCDS2795|CCDS82774|CCDS82775" P61586 9605859 MGI:1096342 RGD:619921 LRG_1085|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1085.xml RHOA 165390 HGNC:667 "ENST00000418115.6|NM_001664.4" HGNC:667 +HGNC:41308 RHOA-IT1 RHOA intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 RHOA intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 106480739 ENSG00000235908 OTTHUMG00000156844 uc062jtd.1 RHOA-IT1 +HGNC:668 RHOB ras homolog family member B protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "RHOH6|MST081" oncogene RHO H6 "ARH6|ARHB" ras homolog gene family, member B Rho family GTPases 390 1997-04-16 2004-03-24 2012-02-27 2020-09-17 388 ENSG00000143878 OTTHUMG00000090755 uc002rdv.4 NM_004040 CCDS1699 P62745 "3283705|16278215" MGI:107949 RGD:621309 165370 HGNC:668 "ENST00000272233.6|NM_004040.4" +HGNC:18738 RHOBTB1 Rho related BTB domain containing 1 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 KIAA0740 Rho-related BTB domain containing 1 "Rho family GTPases|BTB domain containing" "390|861" 2002-06-21 2016-02-23 2019-04-10 9886 ENSG00000072422 OTTHUMG00000018292 uc001jlk.4 AB018283 NM_001242359 CCDS7261 O94844 "11222756|27314390" MGI:1916538 RGD:1306871 607351 HGNC:18738 "ENST00000337910.10|NM_014836.5" +HGNC:18756 RHOBTB2 Rho related BTB domain containing 2 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "KIAA0717|DBC2" Rho-related BTB domain containing 2 "Rho family GTPases|BTB domain containing" "390|861" 2002-06-21 2016-02-23 2021-05-26 23221 ENSG00000008853 OTTHUMG00000097827 uc003xcq.3 AF315385 NM_001160036 "CCDS55211|CCDS55210|CCDS6034" Q9BYZ6 "11222756|27314390" MGI:2180557 RGD:1309924 607352 HGNC:18756 "ENST00000251822.7|NM_015178.3" HGNC:18756 +HGNC:18757 RHOBTB3 Rho related BTB domain containing 3 protein-coding gene gene with protein product Approved 5q15 05q15 KIAA0878 Rho-related BTB domain containing 3 BTB domain containing 861 2002-06-21 2016-02-23 2019-08-08 22836 ENSG00000164292 OTTHUMG00000121171 uc003klm.4 AB020685 NM_014899 CCDS4077 O94955 "11222756|17035353|27314390" MGI:1920546 RGD:1311683 607353 HGNC:18757 "ENST00000379982.8|NM_014899.4" +HGNC:669 RHOC ras homolog family member C protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "ARH9|ARHC" ras homolog gene family, member C Rho family GTPases 390 1997-04-16 2004-03-24 2012-02-27 2020-09-17 389 ENSG00000155366 OTTHUMG00000011905 uc001ecr.2 BC052808 NM_175744 CCDS854 P08134 3283705 MGI:106028 RGD:1304965 165380 HGNC:669 "ENST00000339083.12|NM_175744.5" +HGNC:670 RHOD ras homolog family member D protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "RhoHP1|Rho" "Rho-related protein HP1|Rho-related GTP-binding protein RhoD" ARHD ras homolog gene family, member D Rho family GTPases 390 2000-03-06 2004-03-24 2012-02-27 2020-09-17 29984 ENSG00000173156 OTTHUMG00000167102 uc001ojv.4 D85815 NM_014578 "CCDS73330|CCDS8155" O00212 9116026 MGI:108446 RGD:1310985 605781 HGNC:670 "ENST00000308831.7|NM_014578.4" +HGNC:15703 RHOF ras homolog family member F, filopodia associated protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ20247|RIF" rho in filopodia ARHF "ras homolog gene family, member F (in filopodia)|ras homolog family member F (in filopodia)" Rho family GTPases 390 2001-06-01 2004-03-24 2016-07-08 2016-07-08 54509 ENSG00000139725 OTTHUMG00000169077 uc001ubb.4 AK000254 NM_019034 CCDS9222 Q9HBH0 11084341 MGI:1345629 RGD:1584038 618867 HGNC:15703 "ENST00000267205.7|NM_019034.3" +HGNC:672 RHOG ras homolog family member G protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "MGC125835|MGC125836" ARHG ras homolog gene family, member G (rho G) Rho family GTPases 390 1993-01-20 2004-03-24 2012-02-27 2020-09-17 391 ENSG00000177105 OTTHUMG00000012287 uc001lyu.2 X61587 NM_001665 CCDS7748 P84095 8325658 MGI:1928370 RGD:621310 179505 HGNC:672 "ENST00000351018.5|NM_001665.4" +HGNC:54953 RHOG2P RHOG family member 2, pseudogene pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-18 2020-05-18 2020-05-18 392489 ENSG00000213706 NG_022671 PGOHUM00000305132 +HGNC:686 RHOH ras homolog family member H protein-coding gene gene with protein product Approved 4p14 04p14 TTF ARHH ras homolog gene family, member H Rho family GTPases 390 1997-04-16 2004-03-24 2012-02-27 2021-04-13 399 ENSG00000168421 OTTHUMG00000099373 uc021xnp.3 Z35227 NM_004310 CCDS3458 Q15669 7784061 MGI:1921984 RGD:1307623 LRG_736|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_736.xml RHOH 602037 327301 HGNC:686 "ENST00000381799.10|NM_004310.5" HGNC:686 +HGNC:688 RHOJ ras homolog family member J protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "FLJ14445|TCL" "RASL7B|ARHJ" "RAS-like, family 7, member B|ras homolog gene family, member J" Rho family GTPases 390 1999-07-30 2004-03-24 2012-02-27 2020-09-17 57381 ENSG00000126785 OTTHUMG00000140342 uc001xgb.3 AK027351 NM_020663 CCDS9757 Q9H4E5 10967094 MGI:1931551 RGD:1310528 607653 HGNC:688 "ENST00000316754.8|NM_020663.5" +HGNC:17736 RHOQ ras homolog family member Q protein-coding gene gene with protein product Approved 2p21 02p21 TC10 "RASL7A|ARHQ" "RAS-like, family 7, member A|ras homolog gene family, member Q" Rho family GTPases 390 2003-03-13 2004-03-24 2012-02-27 2014-11-18 23433 ENSG00000119729 OTTHUMG00000150653 uc002rva.4 M31470 NM_012249 CCDS33191 P17081 2108320 MGI:1931553 RGD:621626 605857 HGNC:17736 "ENST00000238738.9|NM_012249.4" +HGNC:40816 RHOQ-AS1 RHOQ antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p21 02p21 Antisense RNAs 1987 2020-03-19 2020-03-19 100506142 ENSG00000250116 OTTHUMG00000164842 NR_104182 +HGNC:20003 RHOQP1 ras homolog family member Q pseudogene 1 pseudogene pseudogene Approved 14q21.3 14q21.3 "ARHQP|RHOQP" "ras homolog gene family, member Q pseudogene|ras homolog gene family, member Q pseudogene 1" 2003-01-13 2010-03-05 2012-02-27 2014-11-19 319093 ENSG00000258568 OTTHUMG00000170812 NG_050638 PGOHUM00000248161 HGNC:20003 +HGNC:37836 RHOQP2 ras homolog family member Q pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 ras homolog gene family, member Q pseudogene 2 2010-03-05 2012-02-27 2014-11-19 730041 ENSG00000232742 OTTHUMG00000153608 NG_023007 PGOHUM00000240942 HGNC:37836 +HGNC:37837 RHOQP3 ras homolog family member Q pseudogene 3 pseudogene pseudogene Approved 2q21.1 02q21.1 ras homolog gene family, member Q pseudogene 3 2010-03-05 2012-02-27 2014-11-19 284988 ENSG00000230756 OTTHUMG00000153752 NG_022969 PGOHUM00000240296 HGNC:37837 +HGNC:21168 RHOT1 ras homolog family member T1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "MIRO-1|FLJ11040|MIRO1" mitochondrial Rho (MIRO) GTPase 1 ARHT1 ras homolog gene family, member T1 "Miro like atypical Rho GTPases|EF-hand domain containing" "392|863" 2003-07-10 2004-03-24 2012-02-27 2019-02-21 55288 ENSG00000126858 OTTHUMG00000179564 uc002hgy.5 AJ517412 NM_018307 "CCDS32612|CCDS74031|CCDS32611|CCDS74030|CCDS32610" Q8IXI2 12482879 MGI:1926078 RGD:1307023 613888 HGNC:21168 "ENST00000545287.7|NM_001033566.3" +HGNC:23777 RHOT1P1 ras homolog family member T1 pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 "RHOT3|RHOT1P" "ras homolog gene family, member T3|ras homolog gene family, member T1 pseudogene|ras homolog gene family, member T1 pseudogene 1" 2005-10-06 2010-03-05 2012-02-27 2017-10-30 100462813 ENSG00000266145 OTTHUMG00000178664 NG_026314 PGOHUM00000294739 HGNC:23777 +HGNC:37838 RHOT1P2 ras homolog family member T1 pseudogene 2 pseudogene pseudogene Approved 21q11.2 21q11.2 ras homolog gene family, member T1 pseudogene 2 2010-03-05 2012-02-27 2014-11-19 100462811 ENSG00000203616 OTTHUMG00000155588 NG_021988 PGOHUM00000239031 HGNC:37838 +HGNC:37839 RHOT1P3 ras homolog family member T1 pseudogene 3 pseudogene pseudogene Approved 13q11 13q11 ras homolog gene family, member T1 pseudogene 3 2010-03-05 2012-02-27 2014-11-19 100462810 ENSG00000242756 OTTHUMG00000086705 NG_021958 PGOHUM00000248294 HGNC:37839 +HGNC:21169 RHOT2 ras homolog family member T2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MIRO-2|MIRO2" mitochondrial Rho (MIRO) GTPase 2 "C16orf39|ARHT2" "chromosome 16 open reading frame 39|ras homolog gene family, member T2" "Miro like atypical Rho GTPases|EF-hand domain containing" "392|863" 2003-07-10 2004-03-24 2012-02-27 2021-05-25 89941 ENSG00000140983 OTTHUMG00000121139 uc002cip.4 BC014942 NM_138769 CCDS10417 Q8IXI1 12482879 MGI:2384892 RGD:727970 613889 HGNC:21169 "ENST00000315082.9|NM_138769.3" +HGNC:17794 RHOU ras homolog family member U protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "WRCH-1|DJ646B12.2|FLJ10616|WRCH1|CDC42L1|hG28K|fJ646B12.2" "Ryu GTPase|Wnt-1 responsive Cdc42 homolog|2310026M05Rik|GTP-binding protein like 1|CDC42-like GTPase|GTP-binding protein SB128|ras-like gene family member U" ARHU ras homolog gene family, member U Rho family GTPases 390 2002-04-22 2004-03-24 2012-02-27 2016-10-05 58480 ENSG00000116574 OTTHUMG00000037919 uc001htf.3 NM_021205 CCDS1575 Q7L0Q8 11459829 MGI:1916831 RGD:1596918 606366 HGNC:17794 "ENST00000366691.4|NM_021205.6" +HGNC:18313 RHOV ras homolog family member V protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "Chp|WRCH2" ARHV ras homolog gene family, member V Rho family GTPases 390 2002-04-22 2004-03-24 2012-02-27 2016-10-05 171177 ENSG00000104140 OTTHUMG00000130134 uc001znd.3 AY059636 NM_133639 CCDS10068 Q96L33 11839775 MGI:2444227 RGD:628824 HGNC:18313 "ENST00000220507.5|NM_133639.4" +HGNC:29993 RHOXF1 Rhox homeobox family member 1 protein-coding gene gene with protein product Approved Xq24 Xq24 "OTEX|PEPP1" Rhox homeobox family, member 1 PRD class homeoboxes and pseudogenes 521 2007-07-27 2015-11-18 2015-11-18 158800 ENSG00000101883 OTTHUMG00000022290 uc004esk.2 NM_139282 CCDS14593 Q8NHV9 "11980563|12490318" "MGI:2681831|MGI:2685994|MGI:3580249" RGD:1563291 300446 8630 HGNC:29993 "ENST00000217999.3|NM_139282.3" +HGNC:51582 RHOXF1-AS1 RHOXF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq24 Xq24 Antisense RNAs 1987 2015-03-11 2015-03-11 101928969 ENSG00000258545 OTTHUMG00000171158 AK123976 NR_131238 RHOXF1-AS1 HGNC:51582 +HGNC:51580 RHOXF1P1 Rhox homeobox family member 1 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 TCONS_00017086 Rhox homeobox family, member 1 pseudogene 1 2015-03-25 2015-11-18 2015-11-18 101928941 ENSG00000234493 OTTHUMG00000022289 BX331476 NR_131250 300973 HGNC:51580 +HGNC:51611 RHOXF1P2 Rhox homeobox family member 1 pseudogene 2 pseudogene pseudogene Approved Xq24 Xq24 Rhox homeobox family, member 1 pseudogene 2 2015-03-25 2015-11-18 2016-11-09 107075106 ENSG00000282850 OTTHUMG00000191484 NG_046544 HGNC:51611 +HGNC:51612 RHOXF1P3 Rhox homeobox family member 1 pseudogene 3 pseudogene pseudogene Approved Xq24 Xq24 Rhox homeobox family, member 1 pseudogene 3 2015-03-25 2015-11-18 2016-11-09 107075307 ENSG00000282933 OTTHUMG00000191483 NG_046545 HGNC:51612 +HGNC:30011 RHOXF2 Rhox homeobox family member 2 protein-coding gene gene with protein product Approved Xq24 Xq24 "THG1|PEPP-2|PEPP2|CT107" cancer/testis antigen 107 Rhox homeobox family, member 2 PRD class homeoboxes and pseudogenes 521 2007-07-27 2015-11-18 2015-11-18 84528 ENSG00000131721 OTTHUMG00000022296 uc004esl.5 NM_032498 CCDS14594 Q9BQY4 12490318 "MGI:1922449|MGI:1930129|MGI:3613386|MGI:3613390|MGI:3613392|MGI:3613394|MGI:3648779|MGI:3770277" 300447 8629 HGNC:30011 "ENST00000371388.5|NM_032498.3" +HGNC:33519 RHOXF2B Rhox homeobox family member 2B protein-coding gene gene with protein product Approved Xq24 Xq24 Rhox homeobox family, member 2B PRD class homeoboxes and pseudogenes 521 2007-07-27 2015-11-18 2015-11-18 727940 ENSG00000203989 OTTHUMG00000022288 uc004esj.6 NM_001099685 CCDS43985 P0C7M4 "MGI:1922449|MGI:1930129|MGI:3613386|MGI:3613390|MGI:3613392|MGI:3613394|MGI:3648779|MGI:3770277" RGD:2321855 8628 HGNC:33519 "ENST00000371402.5|NM_001099685.3" +HGNC:19973 RHPN1 rhophilin Rho GTPase binding protein 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KIAA1929|RHPN|ODF5" PDZ domain containing 1220 2003-01-21 2016-06-29 2016-12-08 114822 ENSG00000158106 OTTHUMG00000165006 uc003yyb.4 AB067516 NM_052924 CCDS47927 Q8TCX5 "11572484|25071083" MGI:1098783 RGD:1305688 601031 HGNC:19973 "ENST00000289013.11|NM_052924.3" +HGNC:28457 RHPN1-AS1 RHPN1 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 MGC3113 C8orf51 "chromosome 8 open reading frame 51|RHPN1 antisense RNA 1 (non-protein coding)|RHPN1 antisense RNA 1" Antisense RNAs 1987 2005-08-11 2012-04-13 2012-10-15 2019-07-24 78998 ENSG00000254389 OTTHUMG00000165005 uc011lkg.5 NR_026785 Q9BWJ2 "28124977|31312362" RHPN1-AS1 HGNC:28457 +HGNC:19974 RHPN2 rhophilin Rho GTPase binding protein 2 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 PDZ domain containing 1220 2003-01-21 2016-06-29 2020-04-02 85415 ENSG00000131941 OTTHUMG00000180340 uc002nuf.4 AF268032 NM_033103 CCDS12427 Q8IUC4 12221077 MGI:1289234 RGD:1308366 617932 HGNC:19974 "ENST00000254260.8|NM_033103.5" +HGNC:37708 RHPN2P1 rhophilin Rho GTPase binding protein 2 pseudogene 1 pseudogene pseudogene Approved 15q11.1 15q11.1 2010-02-01 2016-06-29 2020-04-03 646090 ENSG00000258628 OTTHUMG00000171659 XR_017120 A8MT19 PGOHUM00000292790 HGNC:37708 +HGNC:26537 RIBC1 RIB43A domain with coiled-coils 1 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 FLJ32783 2004-08-18 2016-10-05 158787 ENSG00000158423 OTTHUMG00000021615 uc004dsk.6 AK057345 NM_144968 "CCDS59168|CCDS14353|CCDS35299" Q8N443 MGI:1913861 RGD:1359621 HGNC:26537 "ENST00000375327.6|NM_001031745.5" +HGNC:13241 RIBC2 RIB43A domain with coiled-coils 2 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "DKFZp566F0546|FLJ25720" C22orf11 chromosome 22 open reading frame 11 2004-06-07 2004-08-18 2004-08-18 2019-03-19 26150 ENSG00000128408 OTTHUMG00000151332 uc032qrc.2 AK098586 NM_015653 CCDS14066 Q9H4K1 24424412 MGI:1914997 RGD:1309033 HGNC:13241 "ENST00000614167.2|NM_015653.5" +HGNC:17686 RIC1 RIC1 homolog, RAB6A GEF complex partner 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 bA207C16.1 KIAA1432 "KIAA1432|RAB6A GEF complex partner 1" WD repeat domain containing 362 2003-12-02 2014-07-23 2015-07-22 2018-11-19 57589 ENSG00000107036 OTTHUMG00000019505 AB037853 NM_020829 "CCDS47949|CCDS75811|CCDS34982" Q4ADV7 "10718198|23091056" MGI:1924893 RGD:1310016 610354 HGNC:17686 "ENST00000414202.7|NM_020829.4" HGNC:17686 +HGNC:30338 RIC3 RIC3 acetylcholine receptor chaperone protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "FLJ11608|PRO1385|AYST720" resistance to inhibitors of cholinesterase 3 homolog (C. elegans) 2005-08-17 2013-08-05 2014-11-18 79608 ENSG00000166405 OTTHUMG00000165694 uc001mgc.3 NM_024557 "CCDS55742|CCDS44533|CCDS55741|CCDS7788" Q7Z5B4 12821669 MGI:2443887 RGD:1588939 610509 HGNC:30338 "ENST00000309737.11|NM_001206671.4" HGNC:30338 +HGNC:54191 RIC3-DT RIC3 divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Divergent transcripts 1990 2019-02-28 2019-02-28 101927936 ENSG00000246820 XR_931009 HGNC:54191 +HGNC:29550 RIC8A RIC8 guanine nucleotide exchange factor A protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "synembryn|synembryn-A" resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) "Armadillo like helical domain containing|MicroRNA protein coding host genes" "1492|1691" 2005-08-17 2013-08-05 2014-11-18 60626 ENSG00000177963 OTTHUMG00000119069 uc001lof.5 AK022870 NM_021932 "CCDS7690|CCDS65982" Q9NPQ8 "10985349|11230166" MGI:2141866 RGD:727957 609146 HGNC:29550 "ENST00000526104.6|NM_001286134.2" +HGNC:25555 RIC8B RIC8 guanine nucleotide exchange factor B protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "FLJ10620|hSyn|RIC8" resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) Armadillo like helical domain containing 1492 2005-08-17 2013-08-05 2014-11-18 55188 ENSG00000111785 OTTHUMG00000144188 uc001tlx.4 AK128102 NM_018157 "CCDS81733|CCDS9109|CCDS86331|CCDS81734" Q9NVN3 MGI:2682307 RGD:631419 609147 HGNC:25555 "ENST00000392837.9|NM_001330145.2" +HGNC:28611 RICTOR RPTOR independent companion of MTOR complex 2 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 "MGC39830|AVO3|PIA|KIAA1999" "rapamycin-insensitive companion of mTOR|pianissimo" RPTOR independent companion of MTOR, complex 2 "MTOR complex 2|Armadillo like helical domain containing" "1333|1492" 2009-05-29 2016-04-01 2019-03-19 253260 ENSG00000164327 OTTHUMG00000162037 uc003jlp.4 NM_152756 "CCDS68861|CCDS34148" Q6R327 15268862 MGI:1926007 RGD:1307224 609022 470978 HGNC:28611 "ENST00000357387.8|NM_152756.5" HGNC:28611 +HGNC:16897 RIDA reactive intermediate imine deaminase A homolog protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "UK114|P14.5|PSP" "translational inhibitor p14.5|reactive intermediate/imine deaminase A homolog" HRSP12 heat-responsive protein 12 2004-06-03 2016-01-18 2016-01-18 2016-10-05 10247 ENSG00000132541 OTTHUMG00000164670 uc003yii.2 BC008418 NM_005836 CCDS6276 P52758 "8973653|20817725|22094463" MGI:1095401 RGD:70940 602487 HGNC:16897 "ENST00000254878.8|NM_005836.3" +HGNC:23207 RIF1 replication timing regulatory factor 1 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 "FLJ12870|FLJ10599" RAP1 interacting factor homolog (yeast) Armadillo like helical domain containing 1492 2004-12-09 2014-06-02 2014-11-18 55183 ENSG00000080345 OTTHUMG00000131886 uc061ope.1 AK022932 NM_001177663 "CCDS54406|CCDS2194" Q5UIP0 "15342490|15042697|22850674" MGI:1098622 RGD:1562474 608952 HGNC:23207 "ENST00000444746.7|NM_018151.5" +HGNC:26686 RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ36032 "NCRNA00166|C1orf230" "non-protein coding RNA 166|chromosome 1 open reading frame 230|regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1" 2008-12-09 2011-01-11 2019-07-04 2019-07-04 284485 ENSG00000178796 OTTHUMG00000013055 uc010pdj.2 NM_001144956 CCDS53368 A6NNX1 MGI:1913603 RGD:2303311 HGNC:26686 "ENST00000479191.2|NM_001144956.3" +HGNC:30266 RILP Rab interacting lysosomal protein protein-coding gene gene with protein product Approved 17p13.3 17p13.3 FLJ31193 2004-03-11 2014-11-19 83547 ENSG00000167705 OTTHUMG00000090554 uc002ftd.4 AJ404317 NM_031430 CCDS11009 Q96NA2 11179213 MGI:2144271 RGD:1307691 607848 HGNC:30266 "ENST00000301336.7|NM_031430.3" +HGNC:26814 RILPL1 Rab interacting lysosomal protein like 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ39378 2007-11-27 2016-07-07 2016-07-07 353116 ENSG00000188026 OTTHUMG00000168686 uc001ufe.3 AK097550 NM_178314 "CCDS45006|CCDS81752" Q5EBL4 14668488 MGI:1922945 RGD:1307973 614092 HGNC:26814 "ENST00000376874.9|NM_178314.5" +HGNC:28787 RILPL2 Rab interacting lysosomal protein like 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "MGC7036|FLJ30380|FLJ32372" Rab interacting lysosomal protein-like 2 2007-11-27 2016-03-11 2020-04-02 196383 ENSG00000150977 OTTHUMG00000187294 uc001uey.2 AB085763 NM_145058 CCDS9248 Q969X0 14668488 MGI:1933112 RGD:1303140 614093 HGNC:28787 "ENST00000280571.10|NM_145058.3" +HGNC:30339 RIMBP2 RIMS binding protein 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "KIAA0318|RBP2|MGC15831|RIM-BP2|PPP1R133" protein phosphatase 1, regulatory subunit 133 Protein phosphatase 1 regulatory subunits 694 2006-01-24 2017-03-22 23504 ENSG00000060709 OTTHUMG00000168385 uc001uim.4 AB002316 NM_015347 CCDS31925 O15034 10748113 MGI:2443235 RGD:708533 611602 HGNC:30339 "ENST00000690449.1|NM_001393629.1" +HGNC:29344 RIMBP3 RIMS binding protein 3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "KIAA1666|RIMBP3.1|RIMBP3A" 2007-11-21 2015-02-03 85376 ENSG00000275793 OTTHUMG00000188355 uc002zsd.5 AB051453 NM_015672 CCDS46665 Q9UFD9 "11258795|17855024" MGI:2685449 612699 HGNC:29344 "ENST00000619918.1|NM_015672.2" +HGNC:33891 RIMBP3B RIMS binding protein 3B protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2007-11-21 2018-11-19 440804 ENSG00000274600 OTTHUMG00000150819 uc002zuq.5 NM_001128635 CCDS46668 A6NNM3 17855024 MGI:2685449 612700 HGNC:33891 +HGNC:33892 RIMBP3C RIMS binding protein 3C protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2007-11-21 2018-11-19 150221 ENSG00000183246 OTTHUMG00000150825 uc002zuy.5 NM_001128633 CCDS46669 A6NJZ7 17855024 MGI:2685449 RGD:1563657 612701 HGNC:33892 "ENST00000433039.2|NM_001128633.2" +HGNC:28725 RIMKLA ribosomal modification protein rimK like family member A protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "MGC47816|RP11-157D18.1|NAAGS-II" N-acetylaspartylglutamate synthetase II FAM80A family with sequence similarity 80, member A 2005-07-21 2008-10-13 2016-06-28 2018-03-15 284716 ENSG00000177181 OTTHUMG00000007335 uc001chi.3 BC039737 NM_173642 CCDS466 Q8IXN7 "20657015|21454531" MGI:3040686 RGD:1306880 618949 6.3.2.41 HGNC:28725 "ENST00000431473.4|NM_173642.4" +HGNC:29228 RIMKLB ribosomal modification protein rimK like family member B protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "KIAA1238|NAAGS|NAAGS-I" "N-acetylaspartyl-glutamate synthetase|Beta-citrylglutamate synthase B" FAM80B family with sequence similarity 80, member B 2005-07-21 2008-10-13 2016-06-28 2018-03-15 57494 ENSG00000166532 OTTHUMG00000168197 uc001qux.2 AB033064 NM_020734 CCDS41748 Q9ULI2 "10574462|20643647" MGI:1918325 RGD:1560851 614054 6.3.2.41 HGNC:29228 "ENST00000535829.6|NM_001297776.2" +HGNC:34034 RIMKLBP1 ribosomal modification protein rimK like family member B pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 "FAM80C|RIMKLP|FAM80B2|RIMKLB2" "ribosomal modification protein rimK-like (E. coli) pseudogene|family with sequence similarity 80, member B2|ribosomal modification protein rimK-like family member B2" 2008-03-28 2010-10-25 2016-06-28 2016-06-28 54031 ENSG00000189089 OTTHUMG00000086605 NG_000912 PGOHUM00000239170 HGNC:34034 +HGNC:39163 RIMKLBP2 ribosomal modification protein rimK like family member B pseudogene 2 pseudogene pseudogene Approved 1q41 01q41 2010-10-25 2016-06-28 2016-06-28 100422371 ENSG00000225920 OTTHUMG00000037142 NG_027041 PGOHUM00000244422 HGNC:39163 +HGNC:27750 RIMOC1 RAB7A interacting MON1-CCZ1 complex subunit 1 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 LOC285636 C5orf51 chromosome 5 open reading frame 51 2008-07-18 2021-10-14 2021-10-14 2021-10-14 285636 ENSG00000205765 OTTHUMG00000162084 uc003jmo.4 "AL833916|AK094002" NM_175921 CCDS34151 A6NDU8 34432599 MGI:2146232 RGD:1305938 HGNC:27750 "ENST00000381647.7|NM_175921.6" +HGNC:17282 RIMS1 regulating synaptic membrane exocytosis 1 protein-coding gene gene with protein product Approved 6q13 06q13 "RIM|KIAA0340|RIM1" Rab3-interacting molecule "RAB3IP2|CORD7" RAB3 interacting protein 2 "Regulating synaptic membrane exocytosis family|PDZ domain containing" "833|1220" 2002-04-29 2002-06-14 2002-06-12 2021-05-26 22999 ENSG00000079841 OTTHUMG00000015009 uc003pga.5 AB002338 NM_014989 "CCDS55031|CCDS47449|CCDS55033|CCDS55029|CCDS55030|CCDS55032" Q86UR5 "9205841|11438518" MGI:2152971 RGD:620000 606629 118319 HGNC:17282 "ENST00000521978.6|NM_014989.7" HGNC:17282 +HGNC:17283 RIMS2 regulating synaptic membrane exocytosis 2 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "KIAA0751|RIM2|OBOE" RAB3IP3 RAB3 interacting protein 3 "Regulating synaptic membrane exocytosis family|PDZ domain containing" "833|1220" 2002-04-29 2002-06-14 2002-06-12 2021-05-26 9699 ENSG00000176406 OTTHUMG00000162097 uc003ylp.4 AB018294 NM_001100117 "CCDS55269|CCDS64949|CCDS64948|CCDS43761" Q9UQ26 "9872452|12578829" MGI:2152972 RGD:620001 606630 HGNC:17283 HGNC:17283 +HGNC:21292 RIMS3 regulating synaptic membrane exocytosis 3 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "RIM3|NIM3" Regulating synaptic membrane exocytosis family 833 2003-06-19 2021-05-26 9783 ENSG00000117016 OTTHUMG00000007453 uc001cfu.2 BC003103 NM_014747 CCDS30687 Q9UJD0 "12620390|10748113" MGI:2443331 RGD:628762 611600 HGNC:21292 "ENST00000372684.8|NM_014747.3" +HGNC:16183 RIMS4 regulating synaptic membrane exocytosis 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ781B1.3 C20orf190 chromosome 20 open reading frame 190 Regulating synaptic membrane exocytosis family 833 2001-07-17 2003-06-20 2003-06-18 2015-08-25 140730 ENSG00000101098 OTTHUMG00000032546 uc002xms.4 NM_182970 "CCDS56191|CCDS13338" Q9H426 12620390 MGI:2674366 RGD:628695 611601 HGNC:16183 "ENST00000372851.8|NM_182970.4" +HGNC:18749 RIN1 Ras and Rab interactor 1 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 VPS9 domain containing 928 2002-09-11 2020-04-02 9610 ENSG00000174791 OTTHUMG00000167085 uc001ohn.2 L36463 NM_004292 CCDS31614 Q13671 "9144171|1849280" MGI:2385695 RGD:620006 605965 HGNC:18749 "ENST00000311320.9|NM_004292.3" +HGNC:18750 RIN2 Ras and Rab interactor 2 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 RASSF4 VPS9 domain containing 928 2002-09-11 2016-10-05 54453 ENSG00000132669 OTTHUMG00000031996 uc002wro.3 AB060339 NM_001242581 CCDS56182 Q8WYP3 "11733506|1849280|16423831" MGI:1921280 RGD:1305873 610222 220916 HGNC:18750 "ENST00000255006.12|NM_018993.4" HGNC:18750 +HGNC:18751 RIN3 Ras and Rab interactor 3 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 FLJ22439 VPS9 domain containing 928 2002-09-11 2020-04-02 79890 ENSG00000100599 OTTHUMG00000171198 uc001yap.4 BC025248 NM_001319987 CCDS32144 Q8TB24 11733506 MGI:2385708 RGD:1305849 610223 HGNC:18751 "ENST00000216487.12|NM_024832.5" +HGNC:10018 RING1 ring finger protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 RNF1 Ring finger proteins 58 1997-02-11 2016-10-05 6015 ENSG00000204227 OTTHUMG00000031278 uc003odk.4 NM_002931 CCDS34424 Q06587 1906426 MGI:1101770 RGD:3576 602045 HGNC:10018 "ENST00000374656.5|NM_002931.4" +HGNC:24795 RINL Ras and Rab interactor like protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ45909 VPS9 domain containing 928 2008-07-25 2015-11-13 2015-11-13 126432 ENSG00000187994 OTTHUMG00000182299 uc060ygm.1 AK127808 NM_198445 "CCDS59386|CCDS12522" Q6ZS11 MGI:2444024 RGD:1310133 HGNC:24795 "ENST00000591812.2|NM_001195833.2" +HGNC:21876 RINT1 RAD50 interactor 1 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 "FLJ11785|RINT-1" NRZ tethering complex 1931 2006-03-02 2016-10-05 60561 ENSG00000135249 OTTHUMG00000157400 uc003vda.1 AF317622 NM_021930 CCDS34726 Q6NUQ1 "11096100|15029241" MGI:1916233 RGD:1560433 610089 HGNC:21876 "ENST00000257700.7|NM_021930.6" HGNC:21876 +HGNC:18656 RIOK1 RIO kinase 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "AD034|FLJ30006|bA288G3.1|RRP10" RIO kinase 1 (yeast) Ribosomal biogenesis factors 1729 2003-06-25 2012-12-10 2014-11-18 83732 ENSG00000124784 OTTHUMG00000014207 uc003mxn.4 BC006104 NM_031480 CCDS4500 Q9BRS2 MGI:1918590 RGD:1306086 617753 objectId:2186 HGNC:18656 "ENST00000379834.7|NM_031480.3" +HGNC:18999 RIOK2 RIO kinase 2 protein-coding gene gene with protein product Approved 5q15 05q15 FLJ11159 RIO kinase 2 (yeast) Ribosomal biogenesis factors 1729 2003-06-25 2012-12-10 2016-10-05 55781 ENSG00000058729 OTTHUMG00000128723 uc003kmz.4 AK002021 NM_018343 "CCDS4089|CCDS54884" Q9BVS4 MGI:1914295 RGD:1311588 617754 objectId:2187 HGNC:18999 "ENST00000283109.8|NM_018343.3" HGNC:18999 +HGNC:11451 RIOK3 RIO kinase 3 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 SUDD "sudD (suppressor of bimD6, Aspergillus nidulans) homolog|RIO kinase 3 (yeast)" Ribosomal biogenesis factors 1729 1999-02-01 2003-06-25 2012-12-10 2019-03-15 8780 ENSG00000101782 OTTHUMG00000131813 uc002kui.5 AF013591 NM_003831 "CCDS11877|CCDS86664" O14730 "9602165|22418843" MGI:1914128 RGD:1310833 603579 objectId:2188 HGNC:11451 "ENST00000339486.8|NM_003831.5" +HGNC:39714 RIOK3P1 RIO kinase 3 pseudogene 1 pseudogene pseudogene Approved 13q22.1 13q22.1 RIO kinase 3 (yeast) pseudogene 1 2011-03-23 2012-12-10 2016-10-05 122145 ENSG00000225944 OTTHUMG00000017083 NG_002288 PGOHUM00000248633 HGNC:39714 +HGNC:20968 RIOX1 ribosomal oxygenase 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ21802|NO66|MAPJD|JMJD9" "nucleolar protein 66|Myc-associated protein with JmjC domain" C14orf169 chromosome 14 open reading frame 169 Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2003-11-19 2017-01-04 2017-01-04 2019-03-11 79697 ENSG00000170468 OTTHUMG00000166530 uc032bfz.2 BC011350 NM_024644 CCDS73660 Q9H6W3 "19927124|17308053|22750859|27309310" MGI:1919202 RGD:1307704 611919 1.14.11.27 HGNC:20968 "ENST00000304061.8|NM_024644.5" +HGNC:19441 RIOX2 ribosomal oxygenase 2 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 "MINA53|FLJ14393|mdig|NO52|JMJD10" MINA MYC induced nuclear antigen Iron (II) and 2-oxoglutarate dependent oxygenases 1368 2004-02-26 2017-01-04 2017-01-04 2019-03-11 84864 ENSG00000170854 OTTHUMG00000160107 uc003dsa.3 AB083189 NM_032778 "CCDS2929|CCDS43114" Q8IUF8 12091391 MGI:1914264 RGD:708521 612049 HGNC:19441 "ENST00000394198.7|NM_153182.4" +HGNC:10019 RIPK1 receptor interacting serine/threonine kinase 1 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "RIP|RIP1|RIP-1" receptor-interacting protein kinase 1 receptor (TNFRSF)-interacting serine-threonine kinase 1 Ripoptosome 1340 1999-05-07 2015-11-17 2022-01-19 8737 ENSG00000137275 OTTHUMG00000014134 uc063llv.1 U25994 NM_003804 CCDS4482 Q13546 "7538908|8612133" MGI:108212 RGD:1310158 603453 objectId:2189 HGNC:10019 "ENST00000259808.9|NM_001354930.2" HGNC:10019 +HGNC:10020 RIPK2 receptor interacting serine/threonine kinase 2 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "RICK|RIP2|CARDIAK|CARD3" receptor-interacting serine-threonine kinase 2 Caspase recruitment domain containing 959 1999-05-07 2015-11-17 2016-10-05 8767 ENSG00000104312 OTTHUMG00000163809 uc003yee.4 AC004003 NM_001375360 CCDS6247 O43353 "9575181|9705938" MGI:1891456 RGD:1309167 603455 objectId:2190 HGNC:10020 "ENST00000220751.5|NM_003821.6" +HGNC:55545 RIPK2-DT RIPK2 divergent transcript non-coding RNA RNA, long non-coding Approved 8q21.3 08q21.3 Divergent transcripts 1990 2021-03-24 2021-03-24 101929709 ENSG00000251136 NR_125822 +HGNC:10021 RIPK3 receptor interacting serine/threonine kinase 3 protein-coding gene gene with protein product Approved 14q12 14q12 RIP3 receptor-interacting serine-threonine kinase 3 1999-12-17 2015-11-17 2015-11-17 11035 ENSG00000129465 OTTHUMG00000029349 uc001wpb.4 AF156884 NM_006871 CCDS9628 Q9Y572 "10339433|10358032" MGI:2154952 RGD:628899 605817 objectId:2191 HGNC:10021 "ENST00000216274.10|NM_006871.4" +HGNC:496 RIPK4 receptor interacting serine/threonine kinase 4 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "DIK|ANKK2|RIP4|PKK" "protein kinase C-associated kinase|PKC-delta-interacting protein kinase" ANKRD3 "ankyrin repeat domain 3|receptor-interacting serine-threonine kinase 4" "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 2000-05-23 2004-07-06 2015-11-17 2022-01-19 54101 ENSG00000183421 OTTHUMG00000086770 uc002yzn.2 AJ278016 NM_020639 CCDS13675 P57078 10830953 MGI:1919638 RGD:1311691 605706 291802 objectId:2192 HGNC:496 "ENST00000332512.8|NM_020639.3" HGNC:496 +HGNC:25836 RIPOR1 RHO family interacting cell polarization regulator 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ13725 FAM65A family with sequence similarity 65 member A Armadillo like helical domain containing 1492 2005-04-26 2017-02-22 2017-02-22 2018-06-21 79567 ENSG00000039523 OTTHUMG00000137536 uc002eth.4 AK127792 NM_024519 "CCDS54027|CCDS54026|CCDS10840|CCDS54028" Q6ZS17 11572484 MGI:1922937 RGD:1307772 HGNC:25836 "ENST00000042381.9|NM_024519.4" +HGNC:13872 RIPOR2 RHO family interacting cell polarization regulator 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "KIAA0386|DIFF48|MYONAP" myogenesis-related and NCAM-associated protein homolog (chicken) "C6orf32|FAM65B" "chromosome 6 open reading frame 32|family with sequence similarity 65 member B" Armadillo like helical domain containing 1492 2001-01-03 2017-02-22 2017-02-22 2019-02-11 9750 ENSG00000111913 OTTHUMG00000191459 uc063mes.1 U49187 NM_001286445 "CCDS75410|CCDS69057|CCDS47384|CCDS87373|CCDS47383|CCDS69058" Q9Y4F9 "30280293|17150207|17825087" MGI:2444879 RGD:1306939 611410 410532 HGNC:13872 "ENST00000643898.2|NM_001286445.3" HGNC:13872 +HGNC:16168 RIPOR3 RIPOR family member 3 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "dJ530I15.2|dJ530I15.3" "C20orf175|C20orf176|FAM65C" "chromosome 20 open reading frame 175|chromosome 20 open reading frame 176|family with sequence similarity 65 member C" MicroRNA protein coding host genes 1691 2001-07-17 2017-02-22 2017-02-22 2018-06-21 140876 ENSG00000042062 OTTHUMG00000032724 uc010zyt.3 AL133230 NM_001290268 CCDS13431 Q96MK2 MGI:1916803 RGD:1587669 HGNC:16168 "ENST00000327979.8|NM_001290268.2" +HGNC:40760 RIPOR3-AS1 RIPOR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 Antisense RNAs 1987 2020-03-19 2020-03-19 100506175 ENSG00000234693 OTTHUMG00000032727 NR_111906 +HGNC:25117 RIPPLY1 ripply transcriptional repressor 1 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 ripply1 homolog (zebrafish) 2007-08-16 2013-07-23 2020-04-02 92129 ENSG00000147223 OTTHUMG00000022153 uc004emr.3 NM_001171706 "CCDS48145|CCDS55471" Q0D2K3 MGI:3614797 RGD:1588264 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RIPPLY1 300575 HGNC:25117 "ENST00000276173.5|NM_138382.3" HGNC:25117 +HGNC:21390 RIPPLY2 ripply transcriptional repressor 2 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 dJ237I15.1 C6orf159 "chromosome 6 open reading frame 159|ripply2 homolog (zebrafish)" 2003-11-26 2008-05-07 2013-07-23 2021-05-26 134701 ENSG00000203877 OTTHUMG00000015117 uc003pke.5 BC130460 NM_001009994 CCDS34493 Q5TAB7 MGI:2685968 RGD:1308746 609891 437793 HGNC:21390 "ENST00000369689.6|NM_001009994.3" HGNC:21390 +HGNC:3047 RIPPLY3 ripply transcriptional repressor 3 protein-coding gene gene with protein product Approved 21q22.13 21q22.13 DSCR6 "Down syndrome critical region gene 6|ripply3 homolog (zebrafish)" 2000-05-25 2013-06-04 2013-07-23 2016-10-05 53820 ENSG00000183145 OTTHUMG00000086639 AB037158 NM_001317768 CCDS13648 P57055 "10814524|22354841" MGI:2181192 RGD:1308788 609892 HGNC:3047 "ENST00000329553.3|NM_018962.3" +HGNC:23340 RIPPLY3P1 RIPPLY3 pseudogene 1 pseudogene pseudogene Approved 14q21.1 14q21.1 DSCR6P1 DSCR6 pseudogene 1 2010-09-30 2014-11-14 2014-11-14 2014-11-19 100421053 NG_027264 PGOHUM00000247774 HGNC:23340 +HGNC:10023 RIT1 Ras like without CAAX 1 protein-coding gene gene with protein product Approved 1q22 01q22 "RIBB|ROC1|MGC125864|MGC125865" "Ric-like, expressed in many tissues|GTP-binding protein Roc1" RIT Ric (Drosophila)-like, expressed in many tissues RAS type GTPase family 389 1996-08-28 2002-09-13 2016-05-04 2022-01-19 6016 ENSG00000143622 OTTHUMG00000014104 uc001fmh.3 AF084462 NM_006912 "CCDS58036|CCDS1123|CCDS58037" Q92963 "8824319|8918462" MGI:108053 RGD:1559874 LRG_1372|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1372.xml 609591 358630 HGNC:10023 "ENST00000368323.8|NM_006912.6" HGNC:10023 +HGNC:10017 RIT2 Ras like without CAAX 2 protein-coding gene gene with protein product Approved 18q12.3 18q12.3 RIBA RIN Ric (Drosophila)-like, expressed in neurons RAS type GTPase family 389 1996-08-28 2002-09-13 2016-05-04 2016-05-04 6014 ENSG00000152214 OTTHUMG00000132611 uc010dnf.5 BC018060 NM_002930 "CCDS62431|CCDS11921" Q99578 "8824319|8918462" MGI:108054 RGD:1307654 609592 HGNC:10017 "ENST00000326695.10|NM_002930.4" +HGNC:25925 RITA1 RBPJ interacting and tubulin associated 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "FLJ14827|RITA" RBP-J interacting and tubulin associated C12orf52 chromosome 12 open reading frame 52 2006-01-24 2013-12-10 2013-12-10 2014-11-18 84934 ENSG00000139405 OTTHUMG00000169643 AY007158 NM_032848 "CCDS66473|CCDS9166" Q96K30 "21102556|24308154" MGI:1922021 RGD:1306772 HGNC:25925 "ENST00000548278.2|NM_032848.3" +HGNC:10024 RLBP1 retinaldehyde binding protein 1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 CRALBP retinaldehyde-binding protein 1 1991-05-15 2001-11-28 2019-08-20 6017 ENSG00000140522 OTTHUMG00000172884 uc002bnl.4 BC004199 NM_000326 CCDS32324 P12271 "1733864|9326942" MGI:97930 RGD:1309649 180090 118326 objectId:2545 HGNC:10024 "ENST00000268125.10|NM_000326.5" HGNC:10024 +HGNC:10025 RLF RLF zinc finger protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "ZNF292L|Zn-15L" "rearranged L-myc fusion sequence|rearranged L-myc fusion" Zinc fingers C2H2-type 28 1992-11-30 2019-12-19 2019-12-19 6018 ENSG00000117000 OTTHUMG00000005763 uc001cfc.5 NM_012421 CCDS448 Q13129 1649386 MGI:1924705 RGD:1305297 180610 HGNC:10025 "ENST00000372771.5|NM_012421.4" +HGNC:16738 RLFP1 RLF pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 RLFP "rearranged L-myc fusion pseudogene|rearranged L-myc fusion pseudogene 1" 2005-08-16 2010-03-05 2019-12-19 2019-12-19 57008 U22379 NG_001289 8545128 PGOHUM00000245666 HGNC:16738 +HGNC:13429 RLIM ring finger protein, LIM domain interacting protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 "NY-REN-43|MGC15161" "ring zinc finger protein NY-REN-43antigen|LIM domain interacting ring finger protein|E3 ubiquitin-protein ligase RLIM" RNF12 ring finger protein 12 Ring finger proteins 58 2002-04-30 2009-02-17 2009-02-17 2020-04-02 51132 ENSG00000131263 OTTHUMG00000021859 uc004ebw.4 AF155109 NM_016120 CCDS14427 Q9NVW2 10508479 MGI:1342291 RGD:1559832 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RLIM 300379 468831 HGNC:13429 "ENST00000332687.11|NM_016120.4" HGNC:13429 +HGNC:39682 RLIMP1 ring finger protein, LIM domain interacting pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-03-22 2014-02-12 100533695 ENSG00000229456 OTTHUMG00000016774 NG_023244 PGOHUM00000248571 HGNC:39682 +HGNC:39683 RLIMP2 ring finger protein, LIM domain interacting pseudogene 2 pseudogene pseudogene Approved 1p13.2 01p13.2 2011-03-22 2014-02-12 100533731 ENSG00000237278 OTTHUMG00000012132 NG_028828 PGOHUM00000244148 HGNC:39683 +HGNC:39684 RLIMP3 ring finger protein, LIM domain interacting pseudogene 3 pseudogene pseudogene Approved 15q21.2 15q21.2 2011-03-22 2014-02-12 645453 NG_022128 PGOHUM00000247113 HGNC:39684 +HGNC:10026 RLN1 relaxin 1 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 H1 prorelaxin H1 relaxin 1 (H1) Neuropeptides 1902 2001-06-22 2004-11-15 2015-08-25 6013 ENSG00000107018 OTTHUMG00000019495 uc003zjb.3 NM_006911 CCDS6462 P04808 MGI:97931 RGD:3579 179730 ligandId:3743 HGNC:10026 "ENST00000223862.2|NM_006911.4" +HGNC:10027 RLN2 relaxin 2 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "H2|RLXH2|bA12D24.1.1|bA12D24.1.2" "relaxin H2|prorelaxin H2|relaxin, ovarian, of pregnancy" relaxin 2 (H2) Neuropeptides 1902 2001-06-22 2004-11-15 2014-11-19 6019 ENSG00000107014 OTTHUMG00000019496 uc003zja.3 NM_134441 CCDS6460 P04090 "6548703|6548702" MGI:97931 179740 ligandId:3745 HGNC:10027 "ENST00000381627.4|NM_134441.3" +HGNC:17135 RLN3 relaxin 3 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "ZINS4|RXN3|H3" prorelaxin H3 relaxin 3 (H3) Neuropeptides 1902 2001-11-16 2004-11-15 2019-08-20 117579 ENSG00000171136 OTTHUMG00000181986 uc002mxw.2 AF447451 NM_001311197 "CCDS12302|CCDS82304" Q8WXF3 MGI:2158015 RGD:628745 606855 ligandId:1997 HGNC:17135 "ENST00000431365.3|NM_080864.4" +HGNC:24326 RMC1 regulator of MON1-CCZ1 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "MIC1|HsT2591" colon cancer associated protein Mic1 "C18orf8|WDR98" "chromosome 18 open reading frame 8|WD repeat domain 98" WD repeat domain containing 362 2003-12-30 2017-11-27 2017-11-27 2021-09-16 29919 ENSG00000141452 OTTHUMG00000179239 uc021uie.3 AK057192 NM_013326 "CCDS74199|CCDS32803|CCDS82243" Q96DM3 29038162 MGI:1916528 RGD:1311805 HGNC:24326 "ENST00000269221.8|NM_013326.5" +HGNC:24285 RMDN1 regulator of microtubule dynamics 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "CGI-90|FLJ20665|RMD1" FAM82B family with sequence similarity 82, member B 2005-07-27 2013-01-11 2013-01-11 2014-11-18 51115 ENSG00000176623 OTTHUMG00000163692 uc003ydu.4 AK000672 NM_016033 "CCDS69509|CCDS69510|CCDS34918|CCDS83305" Q96DB5 10810093 MGI:1913552 RGD:1563085 611871 HGNC:24285 "ENST00000406452.8|NM_016033.3" +HGNC:26567 RMDN2 regulator of microtubule dynamics 2 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "FLJ32954|RMD2" "FAM82A|FAM82A1" family with sequence similarity 82, member A1 2005-07-27 2013-01-11 2013-01-11 2015-08-25 151393 ENSG00000115841 OTTHUMG00000128487 uc002rql.4 AK057516 NM_144713 "CCDS1792|CCDS54351|CCDS54352" Q96LZ7 12477932 MGI:2147043 RGD:1559836 611872 HGNC:26567 "ENST00000354545.8|NM_001170791.3" +HGNC:41150 RMDN2-AS1 RMDN2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p22.2 02p22.2 Antisense RNAs 1987 2013-01-11 2014-11-19 101410544 ENSG00000235848 OTTHUMG00000152578 uc061iff.1 DB142860 NR_102712 RMDN2-AS1 HGNC:41150 +HGNC:25550 RMDN3 regulator of microtubule dynamics 3 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "FLJ10579|PTPIP51|RMD3" "FAM82C|FAM82A2" family with sequence similarity 82, member A2 2005-07-27 2013-01-11 2013-01-11 2019-03-14 55177 ENSG00000137824 OTTHUMG00000130066 uc001zmq.2 AK001441 NM_018145 CCDS10063 Q96TC7 "12975309|28548902" MGI:1915059 RGD:1308697 611873 HGNC:25550 "ENST00000338376.8|NM_018145.3" +HGNC:53975 RMEL3 enriched in melanoma 3 non-coding RNA RNA, long non-coding Approved 5q11.2 05q11.2 Long non-coding RNAs with non-systematic symbols 1992 2021-11-11 2021-11-11 123466201 ENSG00000250961 "20975957|30457212" +HGNC:25764 RMI1 RecQ mediated genome instability 1 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "FLJ12888|BLAP75" BLM-Associated Polypeptide, 75 kDa C9orf76 "chromosome 9 open reading frame 76|RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)" 2004-01-06 2006-06-12 2013-06-10 2021-05-26 80010 ENSG00000178966 OTTHUMG00000020113 uc004anq.5 AK022950 NM_024945 CCDS6669 Q9H9A7 "15775963|20826341" MGI:1921636 RGD:1310671 610404 HGNC:25764 "ENST00000445877.6|NM_001358291.2" +HGNC:28349 RMI2 RecQ mediated genome instability 2 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "MGC24665|BLAP18" C16orf75 "chromosome 16 open reading frame 75|RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)" 2006-07-04 2011-06-09 2013-06-10 2015-08-25 116028 ENSG00000175643 OTTHUMG00000129793 uc059quq.1 AK123764 NM_152308 CCDS10548 Q96E14 "18923083|20826341" MGI:2685383 RGD:1563163 RMI2 612426 HGNC:28349 "ENST00000312499.6|NM_152308.3" +HGNC:21176 RMND1 required for meiotic nuclear division 1 homolog protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "bA351K16.3|FLJ20627|RMD1" C6orf96 "chromosome 6 open reading frame 96|required for meiotic nuclear division 1 homolog (S. cerevisiae)" 2003-05-22 2006-11-24 2015-07-22 2021-05-26 55005 ENSG00000155906 OTTHUMG00000015837 uc003qoi.4 AK000634 NM_017909 "CCDS5232|CCDS75539" Q9NWS8 23022098 MGI:1913334 RGD:1309546 614917 327379 HGNC:21176 "ENST00000444024.3|NM_017909.4" HGNC:21176 +HGNC:25850 RMND5A required for meiotic nuclear division 5 homolog A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ13910|RMD5|GID2|GID2A|p44CTLH" "GID complex subunit 2 homolog A|44-kD protein coding for CTLH motif" required for meiotic nuclear division 5 homolog A (S. cerevisiae) CTLH complex 1561 2006-03-31 2015-07-22 2015-07-22 64795 ENSG00000153561 OTTHUMG00000130262 uc002srr.3 BC012165 NM_022780 CCDS1991 Q9H871 17467196 MGI:1915727 RGD:1309766 618964 HGNC:25850 "ENST00000283632.5|NM_022780.4" +HGNC:26181 RMND5B required for meiotic nuclear division 5 homolog B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ22318|GID2|GID2B" GID complex subunit 2 homolog B required for meiotic nuclear division 5 homolog B (S. cerevisiae) 2006-03-31 2015-07-22 2015-07-22 64777 ENSG00000145916 OTTHUMG00000130897 uc003min.5 BC009911 NM_022762 "CCDS4431|CCDS75382" Q96G75 12975309 MGI:1913339 RGD:1559511 HGNC:26181 "ENST00000313386.9|NM_022762.5" +HGNC:10031 RMRP RNA component of mitochondrial RNA processing endoribonuclease non-coding RNA RNA, misc Approved 9p13.3 09p13.3 "RMRPR|RRP2|NME1" CHH cartilage-hair hypoplasia 1989-06-30 2002-05-23 2021-04-13 6023 ENSG00000277027 uc003zxh.2 M29916 NR_003051 "11207361|1623519" MGI:97937 LRG_163|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_163.xml 157660 138742 HGNC:10031 HGNC:10031 +HGNC:47035 RMRPP5 RNA component of mitochondrial RNA processing endoribonuclease pseudogene 5 pseudogene pseudogene Approved 9p21.3 09p21.3 2013-04-03 2013-04-03 106481874 ENSG00000223088 uc064slf.1 NG_044569 HGNC:47035 +HGNC:29893 RMST rhabdomyosarcoma 2 associated transcript non-coding RNA RNA, long non-coding Approved 12q23.1 12q23.1 "NCRMS|NCRNA00054|LINC00054" "non-protein coding RNA 54|long intergenic non-protein coding RNA 54" rhabdomyosarcoma 2 associated transcript (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2006-01-19 2018-05-16 2019-05-30 196475 ENSG00000255794 OTTHUMG00000170148 uc001tfa.2 AK056164 NR_024037 "12082533|20062813|23932716" 607045 rmst RMST HGNC:29893 +HGNC:10037 RN7SK RNA component of 7SK nuclear ribonucleoprotein non-coding RNA RNA, long non-coding Approved 6p12.2 06p12.2 7SK "RNA, 7SK, nuclear|RNA, 7SK small nuclear" "7SK snRNP complex|Long non-coding RNAs with non-systematic symbols" "1676|1992" 1994-07-11 2019-03-27 2019-03-27 125050 ENSG00000283293 OTTHUMG00000191875 uc032wyd.2 "X05490|X04236" NR_001445 "8139910|1646389|19246988|29946027" MGI:103186 606515 7SK HGNC:10037 +HGNC:42619 RN7SKP1 RN7SK pseudogene 1 pseudogene pseudogene Approved 13q13.3 13q13.3 RNA, 7SK small nuclear pseudogene 1 2011-08-09 2019-03-27 2019-03-27 100873845 ENSG00000202395 uc058wmo.1 NG_032625 HGNC:42619 +HGNC:42620 RN7SKP2 RN7SK pseudogene 2 pseudogene pseudogene Approved 13q14.11 13q14.11 RNA, 7SK small nuclear pseudogene 2 2011-08-09 2019-03-27 2019-03-27 100873846 ENSG00000252812 uc021rio.1 NG_032626 HGNC:42620 +HGNC:42621 RN7SKP3 RN7SK pseudogene 3 pseudogene pseudogene Approved 13q14.12 13q14.12 RNA, 7SK small nuclear pseudogene 3 2011-08-09 2019-03-27 2019-03-27 100873847 ENSG00000223341 uc058wtq.1 NG_032627 HGNC:42621 +HGNC:42622 RN7SKP4 RN7SK pseudogene 4 pseudogene pseudogene Approved 13q14.12 13q14.12 RNA, 7SK small nuclear pseudogene 4 2011-08-09 2019-03-27 2019-03-27 100873848 ENSG00000271818 uc058wtr.1 NG_032628 HGNC:42622 +HGNC:42623 RN7SKP5 RN7SK pseudogene 5 pseudogene pseudogene Approved 13q14.13 13q14.13 RNA, 7SK small nuclear pseudogene 5 2011-08-09 2019-03-27 2019-03-27 100873849 ENSG00000252854 uc058wwn.1 NG_032629 HGNC:42623 +HGNC:42624 RN7SKP6 RN7SK pseudogene 6 pseudogene pseudogene Approved 13q21.1 13q21.1 RNA, 7SK small nuclear pseudogene 6 2011-08-09 2019-03-27 2019-03-27 100873850 ENSG00000201665 uc058xhx.1 NG_032630 HGNC:42624 +HGNC:42625 RN7SKP7 RN7SK pseudogene 7 pseudogene pseudogene Approved 13q32.1 13q32.1 RNA, 7SK small nuclear pseudogene 7 2011-08-09 2019-03-27 2019-03-27 100873851 ENSG00000222472 uc058xuw.1 NG_032631 HGNC:42625 +HGNC:42626 RN7SKP8 RN7SK pseudogene 8 pseudogene pseudogene Approved 13q32.2 13q32.2 RNA, 7SK small nuclear pseudogene 8 2011-08-09 2019-03-27 2019-03-27 100873852 ENSG00000222969 uc058xwm.1 NG_032632 HGNC:42626 +HGNC:42627 RN7SKP9 RN7SK pseudogene 9 pseudogene pseudogene Approved 13q32.3 13q32.3 RNA, 7SK small nuclear pseudogene 9 2011-08-09 2019-03-27 2019-03-27 100873853 ENSG00000201793 uc058xzb.1 NG_032633 HGNC:42627 +HGNC:42628 RN7SKP10 RN7SK pseudogene 10 pseudogene pseudogene Approved 13q34 13q34 RNA, 7SK small nuclear pseudogene 10 2011-08-09 2019-03-27 2019-03-27 100873873 ENSG00000201161 uc058yfg.1 NG_032646 HGNC:42628 +HGNC:45735 RN7SKP11 RN7SK pseudogene 11 pseudogene pseudogene Approved 12q23.1 12q23.1 RNA, 7SK small nuclear pseudogene 11 2013-03-19 2019-03-27 2019-03-27 106479099 ENSG00000252827 uc021rcb.1 NG_044898 HGNC:45735 +HGNC:45736 RN7SKP12 RN7SK pseudogene 12 pseudogene pseudogene Approved 1q43 01q43 RNA, 7SK small nuclear pseudogene 12 2013-03-19 2019-03-27 2019-03-27 106480836 ENSG00000252084 uc057qtw.1 NG_045853 HGNC:45736 +HGNC:45737 RN7SKP13 RN7SK pseudogene 13 pseudogene pseudogene Approved 4q34.3 04q34.3 RNA, 7SK small nuclear pseudogene 13 2013-03-19 2019-03-27 2019-03-27 106479100 ENSG00000251742 uc021xuv.1 NG_044908 HGNC:45737 +HGNC:45738 RN7SKP14 RN7SK pseudogene 14 pseudogene pseudogene Approved 17q22 17q22 RNA, 7SK small nuclear pseudogene 14 2013-03-19 2019-03-27 2019-03-27 106479101 ENSG00000251809 uc021uag.1 NG_044915 HGNC:45738 +HGNC:45739 RN7SKP15 RN7SK pseudogene 15 pseudogene pseudogene Approved 12p11.22 12p11.22 RNA, 7SK small nuclear pseudogene 15 2013-03-19 2019-03-27 2019-03-27 106480456 ENSG00000201612 uc058mgn.1 NG_043498 HGNC:45739 +HGNC:45740 RN7SKP16 RN7SK pseudogene 16 pseudogene pseudogene Approved 1p35.1 01p35.1 RNA, 7SK small nuclear pseudogene 16 2013-03-19 2019-03-27 2019-03-27 106480837 ENSG00000222112 uc021okx.1 NG_045860 HGNC:45740 +HGNC:45741 RN7SKP17 RN7SK pseudogene 17 pseudogene pseudogene Approved 14q24.3 14q24.3 RNA, 7SK small nuclear pseudogene 17 2013-03-19 2019-03-27 2019-03-27 106479102 ENSG00000223174 uc059drk.1 NG_045208 HGNC:45741 +HGNC:45742 RN7SKP18 RN7SK pseudogene 18 pseudogene pseudogene Approved 6q22.1 06q22.1 RNA, 7SK small nuclear pseudogene 18 2013-03-19 2019-03-27 2019-03-27 106480838 ENSG00000251814 uc063qyn.1 NG_044474 HGNC:45742 +HGNC:45743 RN7SKP19 RN7SK pseudogene 19 pseudogene pseudogene Approved 1p31.1 01p31.1 RNA, 7SK small nuclear pseudogene 19 2013-03-19 2019-03-27 2019-03-27 106479103 ENSG00000251825 uc057how.1 NG_044928 HGNC:45743 +HGNC:45744 RN7SKP20 RN7SK pseudogene 20 pseudogene pseudogene Approved Xp22.2 Xp22.2 RNA, 7SK small nuclear pseudogene 20 2013-03-19 2019-03-27 2019-03-27 106479104 ENSG00000199622 uc064yal.1 NG_045233 HGNC:45744 +HGNC:45745 RN7SKP21 RN7SK pseudogene 21 pseudogene pseudogene Approved 14q13.3 14q13.3 RNA, 7SK small nuclear pseudogene 21 2013-03-19 2019-03-27 2019-03-27 106480839 ENSG00000252312 uc059awo.1 NG_044480 HGNC:45745 +HGNC:45746 RN7SKP22 RN7SK pseudogene 22 pseudogene pseudogene Approved 19q13.11 19q13.11 RNA, 7SK small nuclear pseudogene 22 2013-03-19 2019-03-27 2019-03-27 106481805 ENSG00000201967 uc060wsl.1 NG_008258 HGNC:45746 +HGNC:45747 RN7SKP23 RN7SK pseudogene 23 pseudogene pseudogene Approved 16p12.2 16p12.2 RNA, 7SK small nuclear pseudogene 23 2013-03-19 2019-03-27 2019-03-27 106479105 ENSG00000280039 uc059sbe.1 NG_042907 HGNC:45747 +HGNC:45748 RN7SKP24 RN7SK pseudogene 24 pseudogene pseudogene Approved 9p13.3 09p13.3 RNA, 7SK small nuclear pseudogene 24 2013-03-19 2019-03-27 2019-03-27 106480840 ENSG00000251697 uc022bge.1 NG_045867 HGNC:45748 +HGNC:45749 RN7SKP25 RN7SK pseudogene 25 pseudogene pseudogene Approved 3q23 03q23 RNA, 7SK small nuclear pseudogene 25 2013-03-19 2019-03-27 2019-03-27 106480364 ENSG00000199319 uc062opj.1 NG_045978 HGNC:45749 +HGNC:45750 RN7SKP26 RN7SK pseudogene 26 pseudogene pseudogene Approved 18q21.1 18q21.1 RNA, 7SK small nuclear pseudogene 26 2013-03-19 2019-03-27 2019-03-27 106479106 ENSG00000222179 uc060otw.1 NG_045241 HGNC:45750 +HGNC:45751 RN7SKP27 RN7SK pseudogene 27 pseudogene pseudogene Approved 2p24.1 02p24.1 RNA, 7SK small nuclear pseudogene 27 2013-03-19 2019-03-27 2019-03-27 106480841 ENSG00000222616 uc061hai.1 NG_044493 HGNC:45751 +HGNC:45752 RN7SKP28 RN7SK pseudogene 28 pseudogene pseudogene Approved 4q22.3 04q22.3 RNA, 7SK small nuclear pseudogene 28 2013-03-19 2019-03-27 2019-03-27 106479107 ENSG00000201640 uc021xqg.2 NG_042920 HGNC:45752 +HGNC:45753 RN7SKP29 RN7SK pseudogene 29 pseudogene pseudogene Approved 8q13.3 08q13.3 RNA, 7SK small nuclear pseudogene 29 2013-03-19 2019-03-27 2019-03-27 106480457 ENSG00000222889 uc064nny.1 NG_043507 HGNC:45753 +HGNC:45754 RN7SKP30 RN7SK pseudogene 30 pseudogene pseudogene Approved 4q12 04q12 RNA, 7SK small nuclear pseudogene 30 2013-03-19 2019-03-27 2019-03-27 106479108 ENSG00000223305 uc021xom.1 NG_064631 HGNC:45754 +HGNC:45755 RN7SKP31 RN7SK pseudogene 31 pseudogene pseudogene Approved Xq26.3 Xq26.3 RNA, 7SK small nuclear pseudogene 31 2013-03-19 2019-03-27 2019-03-27 106480842 ENSG00000252163 uc065biy.1 NG_044503 HGNC:45755 +HGNC:45756 RN7SKP32 RN7SK pseudogene 32 pseudogene pseudogene Approved 8q11.1 08q11.1 RNA, 7SK small nuclear pseudogene 32 2013-03-19 2019-03-27 2019-03-27 106479109 ENSG00000222099 uc064moy.1 NG_042938 HGNC:45756 +HGNC:45757 RN7SKP33 RN7SK pseudogene 33 pseudogene pseudogene Approved 20q13.12 20q13.12 RNA, 7SK small nuclear pseudogene 33 2013-03-19 2019-03-27 2019-03-27 106480843 ENSG00000222874 uc061xni.1 NG_044513 HGNC:45757 +HGNC:45758 RN7SKP34 RN7SK pseudogene 34 pseudogene pseudogene Approved 5q14.3 05q14.3 RNA, 7SK small nuclear pseudogene 34 2013-03-19 2019-03-27 2019-03-27 106479110 ENSG00000251951 uc063fdn.1 NG_042946 HGNC:45758 +HGNC:45759 RN7SKP35 RN7SK pseudogene 35 pseudogene pseudogene Approved 4q31.3 04q31.3 RNA, 7SK small nuclear pseudogene 35 2013-03-19 2019-03-27 2019-03-27 106479111 ENSG00000253019 uc021xsw.1 NG_045261 HGNC:45759 +HGNC:45760 RN7SKP36 RN7SK pseudogene 36 pseudogene pseudogene Approved 4p16.1 04p16.1 RNA, 7SK small nuclear pseudogene 36 2013-03-19 2019-03-27 2019-03-27 106480458 ENSG00000200867 uc062uzl.1 NG_043516 HGNC:45760 +HGNC:45761 RN7SKP37 RN7SK pseudogene 37 pseudogene pseudogene Approved 10p12.31 10p12.31 RNA, 7SK small nuclear pseudogene 37 2013-03-19 2019-03-27 2019-03-27 106480844 ENSG00000201364 uc057sel.1 NG_044521 HGNC:45761 +HGNC:45762 RN7SKP38 RN7SK pseudogene 38 pseudogene pseudogene Approved 2q35 02q35 RNA, 7SK small nuclear pseudogene 38 2013-03-19 2019-03-27 2019-03-27 106479112 ENSG00000222714 uc061slw.1 NG_045007 HGNC:45762 +HGNC:45763 RN7SKP39 RN7SK pseudogene 39 pseudogene pseudogene Approved 10p12.1 10p12.1 RNA, 7SK small nuclear pseudogene 39 2013-03-19 2019-03-27 2019-03-27 106480845 ENSG00000222705 uc057sle.1 NG_044530 HGNC:45763 +HGNC:45764 RN7SKP40 RN7SK pseudogene 40 pseudogene pseudogene Approved 3q26.31 03q26.31 RNA, 7SK small nuclear pseudogene 40 2013-03-19 2019-03-27 2019-03-27 106479113 ENSG00000253020 uc062qbe.1 NG_042970 HGNC:45764 +HGNC:45766 RN7SKP42 RN7SK pseudogene 42 pseudogene pseudogene Approved 2q32.1 02q32.1 RNA, 7SK small nuclear pseudogene 42 2013-03-19 2019-03-27 2019-03-27 106480846 ENSG00000222845 uc061qmj.1 NG_044536 HGNC:45766 +HGNC:45767 RN7SKP43 RN7SK pseudogene 43 pseudogene pseudogene Approved 2q35 02q35 RNA, 7SK small nuclear pseudogene 43 2013-03-19 2019-03-27 2019-03-27 106481806 ENSG00000251982 uc061sgs.1 NG_044027 HGNC:45767 +HGNC:45768 RN7SKP44 RN7SK pseudogene 44 pseudogene pseudogene Approved 18q12.1 18q12.1 RNA, 7SK small nuclear pseudogene 44 2013-03-19 2019-03-27 2019-03-27 106479114 ENSG00000200472 uc060ogc.1 NG_042980 HGNC:45768 +HGNC:45769 RN7SKP45 RN7SK pseudogene 45 pseudogene pseudogene Approved 3p14.3 03p14.3 RNA, 7SK small nuclear pseudogene 45 2013-03-19 2019-03-27 2019-03-27 106479115 ENSG00000200379 uc062kuo.1 NG_042987 HGNC:45769 +HGNC:45770 RN7SKP46 RN7SK pseudogene 46 pseudogene pseudogene Approved 3q25.32 03q25.32 RNA, 7SK small nuclear pseudogene 46 2013-03-19 2019-03-27 2019-03-27 106480847 ENSG00000251751 uc021xgl.1 NG_044544 HGNC:45770 +HGNC:45771 RN7SKP47 RN7SK pseudogene 47 pseudogene pseudogene Approved 9q21.13 09q21.13 RNA, 7SK small nuclear pseudogene 47 2013-03-19 2019-03-27 2019-03-27 106481974 ENSG00000202217 uc022bic.1 NG_017036 HGNC:45771 +HGNC:45772 RN7SKP48 RN7SK pseudogene 48 pseudogene pseudogene Approved 4q21.23 04q21.23 RNA, 7SK small nuclear pseudogene 48 2013-03-19 2019-03-27 2019-03-27 106479116 ENSG00000201901 uc062xxt.1 NG_042996 HGNC:45772 +HGNC:45773 RN7SKP49 RN7SK pseudogene 49 pseudogene pseudogene Approved 1q42.11 01q42.11 RNA, 7SK small nuclear pseudogene 49 2013-03-19 2019-03-27 2019-03-27 106480848 ENSG00000252484 uc021pjn.1 NG_044551 HGNC:45773 +HGNC:45774 RN7SKP50 RN7SK pseudogene 50 pseudogene pseudogene Approved 11p15.4 11p15.4 RNA, 7SK small nuclear pseudogene 50 2013-03-19 2019-03-27 2019-03-27 106480459 ENSG00000201564 uc057yyl.1 NG_045481 HGNC:45774 +HGNC:45775 RN7SKP51 RN7SK pseudogene 51 pseudogene pseudogene Approved 6q22.1 06q22.1 RNA, 7SK small nuclear pseudogene 51 2013-03-19 2019-03-27 2019-03-27 106479117 ENSG00000222713 uc021zee.1 NG_033929 HGNC:45775 +HGNC:45776 RN7SKP52 RN7SK pseudogene 52 pseudogene pseudogene Approved 3q26.32 03q26.32 RNA, 7SK small nuclear pseudogene 52 2013-03-19 2019-03-27 2019-03-27 106479118 ENSG00000252028 uc062qcr.1 NG_043013 HGNC:45776 +HGNC:45777 RN7SKP53 RN7SK pseudogene 53 pseudogene pseudogene Approved 11q22.1 11q22.1 RNA, 7SK small nuclear pseudogene 53 2013-03-19 2019-03-27 2019-03-27 106480849 ENSG00000223269 uc058gtd.1 NG_045895 HGNC:45777 +HGNC:45778 RN7SKP54 RN7SK pseudogene 54 pseudogene pseudogene Approved 7q22.1 07q22.1 RNA, 7SK small nuclear pseudogene 54 2013-03-19 2019-03-27 2019-03-27 107080626 ENSG00000222636 uc064gka.1 NG_050729 HGNC:45778 +HGNC:45779 RN7SKP55 RN7SK pseudogene 55 pseudogene pseudogene Approved 1q44 01q44 RNA, 7SK small nuclear pseudogene 55 2013-03-19 2019-03-27 2019-03-27 106479119 ENSG00000201758 uc057qxe.1 NG_043023 HGNC:45779 +HGNC:45780 RN7SKP56 RN7SK pseudogene 56 pseudogene pseudogene Approved 6q22.32 06q22.32 RNA, 7SK small nuclear pseudogene 56 2013-03-19 2019-03-27 2019-03-27 106481807 ENSG00000222445 uc063rdr.1 NG_045688 HGNC:45780 +HGNC:45781 RN7SKP57 RN7SK pseudogene 57 pseudogene pseudogene Approved 5q22.1 05q22.1 RNA, 7SK small nuclear pseudogene 57 2013-03-19 2019-03-27 2019-03-27 106479120 ENSG00000253057 uc021yci.1 NG_043030 HGNC:45781 +HGNC:45782 RN7SKP58 RN7SK pseudogene 58 pseudogene pseudogene Approved 3p22.1 03p22.1 RNA, 7SK small nuclear pseudogene 58 2013-03-19 2019-03-27 2019-03-27 106480850 ENSG00000222942 uc062imu.1 NG_045898 HGNC:45782 +HGNC:45783 RN7SKP59 RN7SK pseudogene 59 pseudogene pseudogene Approved 9q21.2 09q21.2 RNA, 7SK small nuclear pseudogene 59 2013-03-19 2019-03-27 2019-03-27 106479121 ENSG00000222452 uc064tvq.1 NG_043041 HGNC:45783 +HGNC:45784 RN7SKP60 RN7SK pseudogene 60 pseudogene pseudogene Approved 5q34 05q34 RNA, 7SK small nuclear pseudogene 60 2013-03-19 2019-03-27 2019-03-27 106480851 ENSG00000252794 uc021yhh.1 NG_044575 HGNC:45784 +HGNC:45785 RN7SKP61 RN7SK pseudogene 61 pseudogene pseudogene Approved 3p12.3 03p12.3 RNA, 7SK small nuclear pseudogene 61 2013-03-19 2019-03-27 2019-03-27 106479122 ENSG00000222574 uc062lqd.1 NG_043051 HGNC:45785 +HGNC:45786 RN7SKP62 RN7SK pseudogene 62 pseudogene pseudogene Approved 5q21.1 05q21.1 RNA, 7SK small nuclear pseudogene 62 2013-03-19 2019-03-27 2019-03-27 106480460 ENSG00000207269 uc063fsq.1 NG_043533 HGNC:45786 +HGNC:45787 RN7SKP63 RN7SK pseudogene 63 pseudogene pseudogene Approved 22q11.21 22q11.21 RNA, 7SK small nuclear pseudogene 63 2013-03-19 2019-03-27 2019-03-27 106479123 ENSG00000200057 uc021wmf.1 NG_045295 HGNC:45787 +HGNC:45788 RN7SKP64 RN7SK pseudogene 64 pseudogene pseudogene Approved 5q31.2 05q31.2 RNA, 7SK small nuclear pseudogene 64 2013-03-19 2019-03-27 2019-03-27 106480852 ENSG00000253015 uc063hqk.1 NG_044585 HGNC:45788 +HGNC:45789 RN7SKP65 RN7SK pseudogene 65 pseudogene pseudogene Approved 12q14.1 12q14.1 RNA, 7SK small nuclear pseudogene 65 2013-03-19 2019-03-27 2019-03-27 106479124 ENSG00000222210 uc058qej.1 NG_043068 HGNC:45789 +HGNC:45790 RN7SKP66 RN7SK pseudogene 66 pseudogene pseudogene Approved 2p21 02p21 RNA, 7SK small nuclear pseudogene 66 2013-03-19 2019-03-27 2019-03-27 106480853 ENSG00000252490 uc021vgp.1 NG_053008 HGNC:45790 +HGNC:45791 RN7SKP67 RN7SK pseudogene 67 pseudogene pseudogene Approved 4q35.1 04q35.1 RNA, 7SK small nuclear pseudogene 67 2013-03-19 2019-03-27 2019-03-27 106479125 ENSG00000251714 uc063bez.1 NG_043074 HGNC:45791 +HGNC:45792 RN7SKP68 RN7SK pseudogene 68 pseudogene pseudogene Approved 5q21.1 05q21.1 RNA, 7SK small nuclear pseudogene 68 2013-03-19 2019-03-27 2019-03-27 106480854 ENSG00000222987 uc063fsx.1 NG_044602 HGNC:45792 +HGNC:45793 RN7SKP69 RN7SK pseudogene 69 pseudogene pseudogene Approved 20p12.1 20p12.1 RNA, 7SK small nuclear pseudogene 69 2013-03-19 2019-03-27 2019-03-27 106480461 ENSG00000202260 uc021wav.1 NG_043540 HGNC:45793 +HGNC:45794 RN7SKP70 RN7SK pseudogene 70 pseudogene pseudogene Approved 5q35.3 05q35.3 RNA, 7SK small nuclear pseudogene 70 2013-03-19 2019-03-27 2019-03-27 107057644 ENSG00000252464 uc021yja.2 NG_046350 HGNC:45794 +HGNC:45795 RN7SKP71 RN7SK pseudogene 71 pseudogene pseudogene Approved 12q24.13 12q24.13 RNA, 7SK small nuclear pseudogene 71 2013-03-19 2019-03-27 2019-03-27 106479126 ENSG00000201428 uc058tlg.1 NG_043082 HGNC:45795 +HGNC:45796 RN7SKP72 RN7SK pseudogene 72 pseudogene pseudogene Approved 18p11.32 18p11.32 RNA, 7SK small nuclear pseudogene 72 2013-03-19 2019-03-27 2019-03-27 106481748 ENSG00000199197 uc060mvc.1 NG_045505 HGNC:45796 +HGNC:45797 RN7SKP73 RN7SK pseudogene 73 pseudogene pseudogene Approved 5p15.32 05p15.32 RNA, 7SK small nuclear pseudogene 73 2013-03-19 2019-03-27 2019-03-27 106480855 ENSG00000223007 uc063cby.1 NG_044612 HGNC:45797 +HGNC:45798 RN7SKP74 RN7SK pseudogene 74 pseudogene pseudogene Approved 20p11.23 20p11.23 RNA, 7SK small nuclear pseudogene 74 2013-03-19 2019-03-27 2019-03-27 106479127 ENSG00000199719 uc061vpt.1 NG_043092 HGNC:45798 +HGNC:45799 RN7SKP75 RN7SK pseudogene 75 pseudogene pseudogene Approved 7q11.22 07q11.22 RNA, 7SK small nuclear pseudogene 75 2013-03-19 2019-03-27 2019-03-27 106480856 ENSG00000199940 uc064edd.1 NG_044620 HGNC:45799 +HGNC:45800 RN7SKP76 RN7SK pseudogene 76 pseudogene pseudogene Approved 16q21 16q21 RNA, 7SK small nuclear pseudogene 76 2013-03-19 2019-03-27 2019-03-27 106481808 ENSG00000201289 uc059vfk.1 NG_045692 HGNC:45800 +HGNC:45801 RN7SKP77 RN7SK pseudogene 77 pseudogene pseudogene Approved 9q31.2 09q31.2 RNA, 7SK small nuclear pseudogene 77 2013-03-19 2019-03-27 2019-03-27 106479128 ENSG00000200131 uc064uxs.1 NG_043100 HGNC:45801 +HGNC:45802 RN7SKP78 RN7SK pseudogene 78 pseudogene pseudogene Approved 10p15.1 10p15.1 RNA, 7SK small nuclear pseudogene 78 2013-03-19 2019-03-27 2019-03-27 106479129 ENSG00000201581 uc057rmr.1 NG_045317 HGNC:45802 +HGNC:45803 RN7SKP79 RN7SK pseudogene 79 pseudogene pseudogene Approved 5p15.31 05p15.31 RNA, 7SK small nuclear pseudogene 79 2013-03-19 2019-03-27 2019-03-27 106480857 ENSG00000200243 uc063cdg.1 NG_044628 HGNC:45803 +HGNC:45804 RN7SKP80 RN7SK pseudogene 80 pseudogene pseudogene Approved 22q13.2 22q13.2 RNA, 7SK small nuclear pseudogene 80 2013-03-19 2019-03-27 2019-03-27 106479130 ENSG00000202058 uc062evx.1 NG_045320 HGNC:45804 +HGNC:45805 RN7SKP81 RN7SK pseudogene 81 pseudogene pseudogene Approved Xq27.3 Xq27.3 RNA, 7SK small nuclear pseudogene 81 2013-03-19 2019-03-27 2019-03-27 106480858 ENSG00000202473 uc022cfk.1 NG_044636 HGNC:45805 +HGNC:45806 RN7SKP82 RN7SK pseudogene 82 pseudogene pseudogene Approved 4p13 04p13 RNA, 7SK small nuclear pseudogene 82 2013-03-19 2019-03-27 2019-03-27 106480462 ENSG00000252595 uc021xnw.1 NG_043550 HGNC:45806 +HGNC:45807 RN7SKP83 RN7SK pseudogene 83 pseudogene pseudogene Approved 2p11.2 02p11.2 RNA, 7SK small nuclear pseudogene 83 2013-03-19 2019-03-27 2019-03-27 106479131 ENSG00000252321 uc061ljw.1 NG_045019 HGNC:45807 +HGNC:45809 RN7SKP85 RN7SK pseudogene 85 pseudogene pseudogene Approved 8q22.2 08q22.2 RNA, 7SK small nuclear pseudogene 85 2013-03-19 2019-03-27 2019-03-27 106479132 ENSG00000223281 uc022azc.1 NG_043134 HGNC:45809 +HGNC:45810 RN7SKP86 RN7SK pseudogene 86 pseudogene pseudogene Approved 7q22.1 07q22.1 RNA, 7SK small nuclear pseudogene 86 2013-03-19 2019-03-27 2019-03-27 106480859 ENSG00000222386 uc022ajs.1 NG_011877 HGNC:45810 +HGNC:45811 RN7SKP87 RN7SK pseudogene 87 pseudogene pseudogene Approved 9q31.1 09q31.1 RNA, 7SK small nuclear pseudogene 87 2013-03-19 2019-03-27 2019-03-27 106479133 ENSG00000200966 uc064uvc.1 NG_033273 HGNC:45811 +HGNC:45812 RN7SKP88 RN7SK pseudogene 88 pseudogene pseudogene Approved 1q21.1 01q21.1 RNA, 7SK small nuclear pseudogene 88 2013-03-19 2019-03-27 2019-03-27 106480860 ENSG00000252656 uc057kig.1 NG_044649 HGNC:45812 +HGNC:45813 RN7SKP89 RN7SK pseudogene 89 pseudogene pseudogene Approved 5q22.3 05q22.3 RNA, 7SK small nuclear pseudogene 89 2013-03-19 2019-03-27 2019-03-27 106479134 ENSG00000222706 uc021yco.1 NG_043151 HGNC:45813 +HGNC:45814 RN7SKP90 RN7SK pseudogene 90 pseudogene pseudogene Approved 11p15.1 11p15.1 RNA, 7SK small nuclear pseudogene 90 2013-03-19 2019-03-27 2019-03-27 106481809 ENSG00000199883 uc057zlb.1 NG_044051 HGNC:45814 +HGNC:45815 RN7SKP91 RN7SK pseudogene 91 pseudogene pseudogene Approved 1p35.2 01p35.2 RNA, 7SK small nuclear pseudogene 91 2013-03-19 2019-03-27 2019-03-27 106480861 ENSG00000222784 uc057ecl.1 NG_044656 HGNC:45815 +HGNC:45816 RN7SKP92 RN7SK pseudogene 92 pseudogene pseudogene Approved 14q32.2 14q32.2 RNA, 7SK small nuclear pseudogene 92 2013-03-19 2019-03-27 2019-03-27 106479135 ENSG00000253075 uc021sbr.1 NG_045341 HGNC:45816 +HGNC:45817 RN7SKP93 RN7SK pseudogene 93 pseudogene pseudogene Approved 2q21.2 02q21.2 RNA, 7SK small nuclear pseudogene 93 2013-03-19 2019-03-27 2019-03-27 106479136 ENSG00000200708 uc061nye.1 NG_043166 HGNC:45817 +HGNC:45818 RN7SKP94 RN7SK pseudogene 94 pseudogene pseudogene Approved 17q22 17q22 RNA, 7SK small nuclear pseudogene 94 2013-03-19 2019-03-27 2019-03-27 106480365 ENSG00000222976 uc021ual.1 NG_044788 HGNC:45818 +HGNC:45819 RN7SKP95 RN7SK pseudogene 95 pseudogene pseudogene Approved 15q21.3 15q21.3 RNA, 7SK small nuclear pseudogene 95 2013-03-19 2019-03-27 2019-03-27 106480862 ENSG00000199730 uc059jsd.1 NG_033876 HGNC:45819 +HGNC:45820 RN7SKP96 RN7SK pseudogene 96 pseudogene pseudogene Approved 4q21.3 04q21.3 RNA, 7SK small nuclear pseudogene 96 2013-03-19 2019-03-27 2019-03-27 106479137 ENSG00000252757 uc021xpt.1 NG_045350 HGNC:45820 +HGNC:45821 RN7SKP97 RN7SK pseudogene 97 pseudogene pseudogene Approved 8q12.3 08q12.3 RNA, 7SK small nuclear pseudogene 97 2013-03-19 2019-03-27 2019-03-27 106480463 ENSG00000222898 uc022auz.1 NG_013210 HGNC:45821 +HGNC:45822 RN7SKP98 RN7SK pseudogene 98 pseudogene pseudogene Approved 1q32.3 01q32.3 RNA, 7SK small nuclear pseudogene 98 2013-03-19 2019-03-27 2019-03-27 106480863 ENSG00000252879 uc057pfc.1 NG_044669 HGNC:45822 +HGNC:45823 RN7SKP99 RN7SK pseudogene 99 pseudogene pseudogene Approved 14q23.1 14q23.1 RNA, 7SK small nuclear pseudogene 99 2013-03-19 2019-03-27 2019-03-27 106479138 ENSG00000252837 uc059bxl.1 NG_045353 HGNC:45823 +HGNC:45824 RN7SKP100 RN7SK pseudogene 100 pseudogene pseudogene Approved 20q12 20q12 RNA, 7SK small nuclear pseudogene 100 2013-03-19 2019-03-27 2019-03-27 106479139 ENSG00000223190 uc021wdw.1 NG_033880 HGNC:45824 +HGNC:45825 RN7SKP101 RN7SK pseudogene 101 pseudogene pseudogene Approved 15q21.1 15q21.1 RNA, 7SK small nuclear pseudogene 101 2013-03-19 2019-03-27 2019-03-27 106480864 ENSG00000223308 uc059ivw.1 NG_044675 HGNC:45825 +HGNC:45826 RN7SKP102 RN7SK pseudogene 102 pseudogene pseudogene Approved 2q14.3 02q14.3 RNA, 7SK small nuclear pseudogene 102 2013-03-19 2019-03-27 2019-03-27 106481810 ENSG00000223118 uc061nmu.1 NG_044060 HGNC:45826 +HGNC:45827 RN7SKP103 RN7SK pseudogene 103 pseudogene pseudogene Approved 2q21.2 02q21.2 RNA, 7SK small nuclear pseudogene 103 2013-03-19 2019-03-27 2019-03-27 106479140 ENSG00000200718 uc061nxn.1 NG_050928 HGNC:45827 +HGNC:45828 RN7SKP104 RN7SK pseudogene 104 pseudogene pseudogene Approved 7q21.3 07q21.3 RNA, 7SK small nuclear pseudogene 104 2013-03-19 2019-03-27 2019-03-27 106480865 ENSG00000199475 uc064fpu.1 NG_044685 HGNC:45828 +HGNC:45829 RN7SKP105 RN7SK pseudogene 105 pseudogene pseudogene Approved 4q32.3 04q32.3 RNA, 7SK small nuclear pseudogene 105 2013-03-19 2019-03-27 2019-03-27 106479141 ENSG00000253001 uc021xtx.1 NG_045363 HGNC:45829 +HGNC:45830 RN7SKP106 RN7SK pseudogene 106 pseudogene pseudogene Approved 6q24.1 06q24.1 RNA, 7SK small nuclear pseudogene 106 2013-03-19 2019-03-27 2019-03-27 106479142 ENSG00000222764 uc021zgf.1 NG_043216 HGNC:45830 +HGNC:45831 RN7SKP107 RN7SK pseudogene 107 pseudogene pseudogene Approved 14q32.11 14q32.11 RNA, 7SK small nuclear pseudogene 107 2013-03-19 2019-03-27 2019-03-27 106480464 ENSG00000201027 uc021ryi.1 NG_043568 HGNC:45831 +HGNC:45832 RN7SKP108 RN7SK pseudogene 108 pseudogene pseudogene Approved 14q32.2 14q32.2 RNA, 7SK small nuclear pseudogene 108 2013-03-19 2019-03-27 2019-03-27 106480866 ENSG00000223299 uc059exw.1 NG_044693 HGNC:45832 +HGNC:45833 RN7SKP109 RN7SK pseudogene 109 pseudogene pseudogene Approved 19q13.42 19q13.42 RNA, 7SK small nuclear pseudogene 109 2013-03-19 2019-03-27 2019-03-27 106479143 ENSG00000222524 uc061dcy.1 NG_046901 HGNC:45833 +HGNC:45834 RN7SKP110 RN7SK pseudogene 110 pseudogene pseudogene Approved 6q15 06q15 RNA, 7SK small nuclear pseudogene 110 2013-03-19 2019-03-27 2019-03-27 106480867 ENSG00000222078 uc021zcs.1 NG_045955 HGNC:45834 +HGNC:45835 RN7SKP111 RN7SK pseudogene 111 pseudogene pseudogene Approved 20p12.2 20p12.2 RNA, 7SK small nuclear pseudogene 111 2013-03-19 2019-03-27 2019-03-27 106479144 ENSG00000222281 uc061vkl.1 NG_045370 HGNC:45835 +HGNC:45836 RN7SKP112 RN7SK pseudogene 112 pseudogene pseudogene Approved 2p25.1 02p25.1 RNA, 7SK small nuclear pseudogene 112 2013-03-19 2019-03-27 2019-03-27 106479145 ENSG00000223145 uc061gkq.1 NG_043247 HGNC:45836 +HGNC:45837 RN7SKP113 RN7SK pseudogene 113 pseudogene pseudogene Approved 4p16.2 04p16.2 RNA, 7SK small nuclear pseudogene 113 2013-03-19 2019-03-27 2019-03-27 106480465 ENSG00000200761 uc021xkx.1 NG_043576 HGNC:45837 +HGNC:45838 RN7SKP114 RN7SK pseudogene 114 pseudogene pseudogene Approved 9p13.3 09p13.3 RNA, 7SK small nuclear pseudogene 114 2013-03-19 2019-03-27 2019-03-27 106480868 ENSG00000222259 uc064srh.1 NG_045956 HGNC:45838 +HGNC:45839 RN7SKP115 RN7SK pseudogene 115 pseudogene pseudogene Approved 11q22.1 11q22.1 RNA, 7SK small nuclear pseudogene 115 2013-03-19 2019-03-27 2019-03-27 106479146 ENSG00000200047 uc058gts.1 NG_045375 HGNC:45839 +HGNC:45840 RN7SKP116 RN7SK pseudogene 116 pseudogene pseudogene Approved 6p12.3 06p12.3 RNA, 7SK small nuclear pseudogene 116 2013-03-19 2019-03-27 2019-03-27 106480869 ENSG00000252711 uc021zaf.1 NG_052799 HGNC:45840 +HGNC:45841 RN7SKP117 RN7SK pseudogene 117 pseudogene pseudogene Approved 5q23.2 05q23.2 RNA, 7SK small nuclear pseudogene 117 2013-03-19 2019-03-27 2019-03-27 106479147 ENSG00000222107 uc063gmy.1 NG_043267 HGNC:45841 +HGNC:45842 RN7SKP118 RN7SK pseudogene 118 pseudogene pseudogene Approved 16q22.1 16q22.1 RNA, 7SK small nuclear pseudogene 118 2013-03-19 2019-03-27 2019-03-27 106633802 ENSG00000201201 uc059vtf.1 NG_053040 HGNC:45842 +HGNC:45843 RN7SKP119 RN7SK pseudogene 119 pseudogene pseudogene Approved 2p21 02p21 RNA, 7SK small nuclear pseudogene 119 2013-03-19 2019-03-27 2019-03-27 106481749 ENSG00000222685 uc061iyd.1 NG_045074 HGNC:45843 +HGNC:45844 RN7SKP120 RN7SK pseudogene 120 pseudogene pseudogene Approved 9p21.3 09p21.3 RNA, 7SK small nuclear pseudogene 120 2013-03-19 2019-03-27 2019-03-27 106480870 ENSG00000222693 uc064slg.1 NG_044731 HGNC:45844 +HGNC:45845 RN7SKP121 RN7SK pseudogene 121 pseudogene pseudogene Approved 11q24.2 11q24.2 RNA, 7SK small nuclear pseudogene 121 2013-03-19 2019-03-27 2019-03-27 106481811 ENSG00000222774 uc021qsa.1 NG_044069 HGNC:45845 +HGNC:45846 RN7SKP122 RN7SK pseudogene 122 pseudogene pseudogene Approved 5q21.3 05q21.3 RNA, 7SK small nuclear pseudogene 122 2013-03-19 2019-03-27 2019-03-27 106479148 ENSG00000251732 uc021ycc.1 NG_043276 HGNC:45846 +HGNC:45847 RN7SKP123 RN7SK pseudogene 123 pseudogene pseudogene Approved 1p22.1 01p22.1 RNA, 7SK small nuclear pseudogene 123 2013-03-19 2019-03-27 2019-03-27 106479149 ENSG00000222664 uc057iii.1 NG_043286 HGNC:45847 +HGNC:45848 RN7SKP124 RN7SK pseudogene 124 pseudogene pseudogene Approved 3q23 03q23 RNA, 7SK small nuclear pseudogene 124 2013-03-19 2019-03-27 2019-03-27 106480871 ENSG00000201600 uc062ojp.1 NG_045964 HGNC:45848 +HGNC:45849 RN7SKP125 RN7SK pseudogene 125 pseudogene pseudogene Approved 9q33.1 09q33.1 RNA, 7SK small nuclear pseudogene 125 2013-03-19 2019-03-27 2019-03-27 106479150 ENSG00000222413 uc022bmq.1 NG_043294 HGNC:45849 +HGNC:45850 RN7SKP126 RN7SK pseudogene 126 pseudogene pseudogene Approved 1q31.2 01q31.2 RNA, 7SK small nuclear pseudogene 126 2013-03-19 2019-03-27 2019-03-27 106480872 ENSG00000223075 uc021pgn.1 NG_044747 HGNC:45850 +HGNC:45851 RN7SKP127 RN7SK pseudogene 127 pseudogene pseudogene Approved 16p11.2 16p11.2 RNA, 7SK small nuclear pseudogene 127 2013-03-19 2019-03-27 2019-03-27 106480466 ENSG00000222375 uc059stv.1 NG_043584 HGNC:45851 +HGNC:45852 RN7SKP128 RN7SK pseudogene 128 pseudogene pseudogene Approved 9q33.1 09q33.1 RNA, 7SK small nuclear pseudogene 128 2013-03-19 2019-03-27 2019-03-27 106479151 ENSG00000201140 uc064vhr.1 NG_021409 HGNC:45852 +HGNC:45853 RN7SKP129 RN7SK pseudogene 129 pseudogene pseudogene Approved 7q21.3 07q21.3 RNA, 7SK small nuclear pseudogene 129 2013-03-19 2019-03-27 2019-03-27 106479152 ENSG00000222220 uc064fmd.1 NG_043309 HGNC:45853 +HGNC:45854 RN7SKP130 RN7SK pseudogene 130 pseudogene pseudogene Approved 7p22.2 07p22.2 RNA, 7SK small nuclear pseudogene 130 2013-03-19 2019-03-27 2019-03-27 106480873 ENSG00000201794 uc064bbs.1 NG_044756 HGNC:45854 +HGNC:45855 RN7SKP131 RN7SK pseudogene 131 pseudogene pseudogene Approved 22q11.21 22q11.21 RNA, 7SK small nuclear pseudogene 131 2013-03-19 2019-03-27 2019-03-27 106479153 ENSG00000222630 uc021wlw.1 NG_043317 HGNC:45855 +HGNC:45856 RN7SKP132 RN7SK pseudogene 132 pseudogene pseudogene Approved 10p12.1 10p12.1 RNA, 7SK small nuclear pseudogene 132 2013-03-19 2019-03-27 2019-03-27 106480874 ENSG00000251810 uc057sko.1 NG_044763 HGNC:45856 +HGNC:45857 RN7SKP133 RN7SK pseudogene 133 pseudogene pseudogene Approved 5p15.1 05p15.1 RNA, 7SK small nuclear pseudogene 133 2013-03-19 2019-03-27 2019-03-27 106481812 ENSG00000201715 uc063cni.1 NG_044078 HGNC:45857 +HGNC:45858 RN7SKP134 RN7SK pseudogene 134 pseudogene pseudogene Approved 12p13.1 12p13.1 RNA, 7SK small nuclear pseudogene 134 2013-03-19 2019-03-27 2019-03-27 106479154 ENSG00000200830 uc058lmj.1 NG_045402 HGNC:45858 +HGNC:45859 RN7SKP135 RN7SK pseudogene 135 pseudogene pseudogene Approved 8q12.3 08q12.3 RNA, 7SK small nuclear pseudogene 135 2013-03-19 2019-03-27 2019-03-27 106480875 ENSG00000252358 uc022avb.1 NG_044772 HGNC:45859 +HGNC:45860 RN7SKP136 RN7SK pseudogene 136 pseudogene pseudogene Approved 4q34.3 04q34.3 RNA, 7SK small nuclear pseudogene 136 2013-03-19 2019-03-27 2019-03-27 106479155 ENSG00000222859 uc021xus.1 NG_043335 HGNC:45860 +HGNC:45861 RN7SKP137 RN7SK pseudogene 137 pseudogene pseudogene Approved 4q27 04q27 RNA, 7SK small nuclear pseudogene 137 2013-03-19 2019-03-27 2019-03-27 106479156 ENSG00000223006 uc021xri.1 NG_045407 HGNC:45861 +HGNC:45863 RN7SKP139 RN7SK pseudogene 139 pseudogene pseudogene Approved 15q21.1 15q21.1 RNA, 7SK small nuclear pseudogene 139 2013-03-19 2019-03-27 2019-03-27 106480876 ENSG00000222343 uc059iwa.1 NG_029119 HGNC:45863 +HGNC:45864 RN7SKP140 RN7SK pseudogene 140 pseudogene pseudogene Approved 20p11.22 20p11.22 RNA, 7SK small nuclear pseudogene 140 2013-03-19 2019-03-27 2019-03-27 106480366 ENSG00000223128 uc061vue.1 NG_045984 HGNC:45864 +HGNC:45865 RN7SKP141 RN7SK pseudogene 141 pseudogene pseudogene Approved 2q22.1 02q22.1 RNA, 7SK small nuclear pseudogene 141 2013-03-19 2019-03-27 2019-03-27 106479157 ENSG00000251976 uc021vqa.1 NG_043351 HGNC:45865 +HGNC:45866 RN7SKP142 RN7SK pseudogene 142 pseudogene pseudogene Approved 16q12.1 16q12.1 RNA, 7SK small nuclear pseudogene 142 2013-03-19 2019-03-27 2019-03-27 106480877 ENSG00000223168 uc021tig.1 NG_044789 HGNC:45866 +HGNC:45867 RN7SKP143 RN7SK pseudogene 143 pseudogene pseudogene Approved 10q23.31 10q23.31 RNA, 7SK small nuclear pseudogene 143 2013-03-19 2019-03-27 2019-03-27 106479158 ENSG00000222451 uc057uuv.1 NG_043358 HGNC:45867 +HGNC:45868 RN7SKP144 RN7SK pseudogene 144 pseudogene pseudogene Approved 3p26.3 03p26.3 RNA, 7SK small nuclear pseudogene 144 2013-03-19 2019-03-27 2019-03-27 106479159 ENSG00000223040 uc062gbk.1 NG_043367 HGNC:45868 +HGNC:45869 RN7SKP145 RN7SK pseudogene 145 pseudogene pseudogene Approved 5q32 05q32 RNA, 7SK small nuclear pseudogene 145 2013-03-19 2019-03-27 2019-03-27 106480878 ENSG00000200161 uc063imz.1 NG_044797 HGNC:45869 +HGNC:45870 RN7SKP146 RN7SK pseudogene 146 pseudogene pseudogene Approved 18p11.32 18p11.32 RNA, 7SK small nuclear pseudogene 146 2013-03-19 2019-03-27 2019-03-27 106479160 ENSG00000222174 uc060mss.1 NG_043372 HGNC:45870 +HGNC:45871 RN7SKP147 RN7SK pseudogene 147 pseudogene pseudogene Approved 21q21.1 21q21.1 RNA, 7SK small nuclear pseudogene 147 2013-03-19 2019-03-27 2019-03-27 106480879 ENSG00000252963 uc061zfh.1 NG_044805 HGNC:45871 +HGNC:45872 RN7SKP148 RN7SK pseudogene 148 pseudogene pseudogene Approved 5q35.2 05q35.2 RNA, 7SK small nuclear pseudogene 148 2013-03-19 2019-03-27 2019-03-27 106480467 ENSG00000222111 uc063jvn.1 NG_043594 HGNC:45872 +HGNC:45873 RN7SKP149 RN7SK pseudogene 149 pseudogene pseudogene Approved Xq27.3 Xq27.3 RNA, 7SK small nuclear pseudogene 149 2013-03-19 2019-03-27 2019-03-27 106479161 ENSG00000199878 uc065bkr.1 NG_043379 HGNC:45873 +HGNC:45874 RN7SKP150 RN7SK pseudogene 150 pseudogene pseudogene Approved 5q35.3 05q35.3 RNA, 7SK small nuclear pseudogene 150 2013-03-19 2019-03-27 2019-03-27 106480880 ENSG00000222448 uc063krw.1 NG_044814 HGNC:45874 +HGNC:45875 RN7SKP151 RN7SK pseudogene 151 pseudogene pseudogene Approved 11p15.2 11p15.2 RNA, 7SK small nuclear pseudogene 151 2013-03-19 2019-03-27 2019-03-27 106479162 ENSG00000222162 uc021qea.1 NG_045430 HGNC:45875 +HGNC:45876 RN7SKP152 RN7SK pseudogene 152 pseudogene pseudogene Approved 2q24.3 02q24.3 RNA, 7SK small nuclear pseudogene 152 2013-03-19 2019-03-27 2019-03-27 106479163 ENSG00000222376 uc061pfk.1 NG_043397 HGNC:45876 +HGNC:45877 RN7SKP153 RN7SK pseudogene 153 pseudogene pseudogene Approved 8q24.12 08q24.12 RNA, 7SK small nuclear pseudogene 153 2013-03-19 2019-03-27 2019-03-27 106481813 ENSG00000201896 uc064ptw.1 NG_044084 HGNC:45877 +HGNC:45878 RN7SKP154 RN7SK pseudogene 154 pseudogene pseudogene Approved 2q21.2 02q21.2 RNA, 7SK small nuclear pseudogene 154 2013-03-19 2019-03-27 2019-03-27 106480881 ENSG00000222068 uc061nyb.1 NG_045995 HGNC:45878 +HGNC:45879 RN7SKP155 RN7SK pseudogene 155 pseudogene pseudogene Approved 8q24.13 08q24.13 RNA, 7SK small nuclear pseudogene 155 2013-03-19 2019-03-27 2019-03-27 106479164 ENSG00000251840 uc022bap.1 NG_043403 HGNC:45879 +HGNC:45880 RN7SKP156 RN7SK pseudogene 156 pseudogene pseudogene Approved 1q31.1 01q31.1 RNA, 7SK small nuclear pseudogene 156 2013-03-19 2019-03-27 2019-03-27 106480882 ENSG00000222240 uc057nzx.1 NG_044830 HGNC:45880 +HGNC:45881 RN7SKP157 RN7SK pseudogene 157 pseudogene pseudogene Approved 5q12.1 05q12.1 RNA, 7SK small nuclear pseudogene 157 2013-03-19 2019-03-27 2019-03-27 106479165 ENSG00000251983 uc063dxj.1 NG_043412 HGNC:45881 +HGNC:45882 RN7SKP158 RN7SK pseudogene 158 pseudogene pseudogene Approved 11p14.1 11p14.1 RNA, 7SK small nuclear pseudogene 158 2013-03-19 2019-03-27 2019-03-27 106480883 ENSG00000222385 uc057zyz.1 NG_044839 HGNC:45882 +HGNC:45883 RN7SKP159 RN7SK pseudogene 159 pseudogene pseudogene Approved 8p23.2 08p23.2 RNA, 7SK small nuclear pseudogene 159 2013-03-19 2019-03-27 2019-03-27 106480468 ENSG00000222589 uc022aqs.1 NG_043601 HGNC:45883 +HGNC:45884 RN7SKP160 RN7SK pseudogene 160 pseudogene pseudogene Approved 1q25.1 01q25.1 RNA, 7SK small nuclear pseudogene 160 2013-03-19 2019-03-27 2019-03-27 106479166 ENSG00000200674 uc057njm.1 NG_043421 HGNC:45884 +HGNC:45885 RN7SKP161 RN7SK pseudogene 161 pseudogene pseudogene Approved 12p13.2 12p13.2 RNA, 7SK small nuclear pseudogene 161 2013-03-19 2019-03-27 2019-03-27 106479167 ENSG00000223042 uc058lbu.1 NG_045446 HGNC:45885 +HGNC:45886 RN7SKP162 RN7SK pseudogene 162 pseudogene pseudogene Approved 12p13.1 12p13.1 RNA, 7SK small nuclear pseudogene 162 2013-03-19 2019-03-27 2019-03-27 106480884 ENSG00000200475 uc021qvo.1 NG_031854 HGNC:45886 +HGNC:45887 RN7SKP163 RN7SK pseudogene 163 pseudogene pseudogene Approved 6q14.1 06q14.1 RNA, 7SK small nuclear pseudogene 163 2013-03-19 2019-03-27 2019-03-27 106479168 ENSG00000200091 uc063pqz.1 NG_043437 HGNC:45887 +HGNC:45888 RN7SKP164 RN7SK pseudogene 164 pseudogene pseudogene Approved 2p12 02p12 RNA, 7SK small nuclear pseudogene 164 2013-03-19 2019-03-27 2019-03-27 106480885 ENSG00000251947 uc061lbn.1 NG_044856 HGNC:45888 +HGNC:45889 RN7SKP165 RN7SK pseudogene 165 pseudogene pseudogene Approved 1q42.12 01q42.12 RNA, 7SK small nuclear pseudogene 165 2013-03-19 2019-03-27 2019-03-27 106480367 ENSG00000223282 uc057pys.1 NG_044804 HGNC:45889 +HGNC:45890 RN7SKP166 RN7SK pseudogene 166 pseudogene pseudogene Approved 12q14.3 12q14.3 RNA, 7SK small nuclear pseudogene 166 2013-03-19 2019-03-27 2019-03-27 106481814 ENSG00000222744 uc058qmz.1 NG_044095 HGNC:45890 +HGNC:45891 RN7SKP167 RN7SK pseudogene 167 pseudogene pseudogene Approved 10q26.13 10q26.13 RNA, 7SK small nuclear pseudogene 167 2013-03-19 2019-03-27 2019-03-27 106479169 ENSG00000222979 uc057wks.1 NG_043444 HGNC:45891 +HGNC:45892 RN7SKP168 RN7SK pseudogene 168 pseudogene pseudogene Approved 2p24.2 02p24.2 RNA, 7SK small nuclear pseudogene 168 2013-03-19 2019-03-27 2019-03-27 106479170 ENSG00000222842 uc021veg.1 NG_043455 HGNC:45892 +HGNC:45893 RN7SKP169 RN7SK pseudogene 169 pseudogene pseudogene Approved 22q12.1 22q12.1 RNA, 7SK small nuclear pseudogene 169 2013-03-19 2019-03-27 2019-03-27 106480886 ENSG00000223056 uc062col.1 NG_046772 HGNC:45893 +HGNC:45894 RN7SKP170 RN7SK pseudogene 170 pseudogene pseudogene Approved 4p15.33 04p15.33 RNA, 7SK small nuclear pseudogene 170 2013-03-19 2019-03-27 2019-03-27 106479171 ENSG00000199420 uc062vgr.1 NG_045457 HGNC:45894 +HGNC:45895 RN7SKP171 RN7SK pseudogene 171 pseudogene pseudogene Approved 9p13.2 09p13.2 RNA, 7SK small nuclear pseudogene 171 2013-03-19 2019-03-27 2019-03-27 106480887 ENSG00000201287 uc064tda.1 NG_046019 HGNC:45895 +HGNC:45896 RN7SKP172 RN7SK pseudogene 172 pseudogene pseudogene Approved 12q21.2 12q21.2 RNA, 7SK small nuclear pseudogene 172 2013-03-19 2019-03-27 2019-03-27 106480469 ENSG00000223273 uc058rdt.1 NG_043608 HGNC:45896 +HGNC:45897 RN7SKP173 RN7SK pseudogene 173 pseudogene pseudogene Approved 20q11.23 20q11.23 RNA, 7SK small nuclear pseudogene 173 2013-03-19 2019-03-27 2019-03-27 106635535 ENSG00000199691 uc061wzd.1 NG_042887 HGNC:45897 +HGNC:45898 RN7SKP174 RN7SK pseudogene 174 pseudogene pseudogene Approved 7q35 07q35 RNA, 7SK small nuclear pseudogene 174 2013-03-19 2019-03-27 2019-03-27 106479172 ENSG00000200673 uc064iyk.1 NG_043467 HGNC:45898 +HGNC:45899 RN7SKP175 RN7SK pseudogene 175 pseudogene pseudogene Approved 8q24.3 08q24.3 RNA, 7SK small nuclear pseudogene 175 2013-03-19 2019-03-27 2019-03-27 106479173 ENSG00000275558 uc064qyx.1 NG_043474 HGNC:45899 +HGNC:45900 RN7SKP176 RN7SK pseudogene 176 pseudogene pseudogene Approved 16q23.3 16q23.3 RNA, 7SK small nuclear pseudogene 176 2013-03-19 2019-03-27 2019-03-27 106635536 ENSG00000260682 uc021tlu.1 NG_042888 HGNC:45900 +HGNC:45901 RN7SKP177 RN7SK pseudogene 177 pseudogene pseudogene Approved 3q25.31 03q25.31 RNA, 7SK small nuclear pseudogene 177 2013-03-19 2019-03-27 2019-03-27 106479174 ENSG00000222499 uc062phh.1 NG_045467 HGNC:45901 +HGNC:45902 RN7SKP178 RN7SK pseudogene 178 pseudogene pseudogene Approved 2q33.3 02q33.3 RNA, 7SK small nuclear pseudogene 178 2013-03-19 2019-03-27 2019-03-27 106479175 ENSG00000201875 uc061rso.1 NG_045063 HGNC:45902 +HGNC:45903 RN7SKP179 RN7SK pseudogene 179 pseudogene pseudogene Approved 2q32.2 02q32.2 RNA, 7SK small nuclear pseudogene 179 2013-03-19 2019-03-27 2019-03-27 106481815 ENSG00000251935 uc021vuc.1 NG_044105 HGNC:45903 +HGNC:45904 RN7SKP180 RN7SK pseudogene 180 pseudogene pseudogene Approved 17q24.3 17q24.3 RNA, 7SK small nuclear pseudogene 180 2013-03-19 2019-03-27 2019-03-27 106480888 ENSG00000200783 uc060jku.1 NG_046022 HGNC:45904 +HGNC:45905 RN7SKP181 RN7SK pseudogene 181 pseudogene pseudogene Approved 15q26.2 15q26.2 RNA, 7SK small nuclear pseudogene 181 2013-03-19 2019-03-27 2019-03-27 106479176 ENSG00000223120 uc059nqw.1 NG_043495 HGNC:45905 +HGNC:45906 RN7SKP182 RN7SK pseudogene 182 pseudogene pseudogene Approved 18q12.2 18q12.2 RNA, 7SK small nuclear pseudogene 182 2013-03-19 2019-03-27 2019-03-27 106479177 ENSG00000222704 uc060oqm.1 NG_043502 HGNC:45906 +HGNC:45907 RN7SKP183 RN7SK pseudogene 183 pseudogene pseudogene Approved Xp22.12 Xp22.12 RNA, 7SK small nuclear pseudogene 183 2013-03-19 2019-03-27 2019-03-27 106480889 ENSG00000252978 uc022bts.1 NG_044888 HGNC:45907 +HGNC:45908 RN7SKP184 RN7SK pseudogene 184 pseudogene pseudogene Approved 20q13.2 20q13.2 RNA, 7SK small nuclear pseudogene 184 2013-03-19 2019-03-27 2019-03-27 106480470 ENSG00000199218 uc021wew.1 NG_045509 HGNC:45908 +HGNC:45909 RN7SKP185 RN7SK pseudogene 185 pseudogene pseudogene Approved 20q11.23 20q11.23 RNA, 7SK small nuclear pseudogene 185 2013-03-19 2019-03-27 2019-03-27 106479178 ENSG00000199683 uc061wwo.1 NG_045478 HGNC:45909 +HGNC:45910 RN7SKP186 RN7SK pseudogene 186 pseudogene pseudogene Approved 6p21.33 06p21.33 RN7SKP138 "RNA, 7SK small nuclear pseudogene 138|RNA, 7SK small nuclear pseudogene 186" 2013-03-19 2019-03-27 2019-03-27 106480692 ENSG00000202241 uc063mvc.1 NG_043345 HGNC:45910 +HGNC:45911 RN7SKP187 RN7SK pseudogene 187 pseudogene pseudogene Approved 7q31.1 07q31.1 RNA, 7SK small nuclear pseudogene 187 2013-03-19 2019-03-27 2019-03-27 106480890 ENSG00000202406 uc064hdj.1 NG_041797 HGNC:45911 +HGNC:45912 RN7SKP188 RN7SK pseudogene 188 pseudogene pseudogene Approved 4q32.3 04q32.3 RNA, 7SK small nuclear pseudogene 188 2013-03-19 2019-03-27 2019-03-27 106479179 ENSG00000222721 uc063ave.1 NG_043521 HGNC:45912 +HGNC:45913 RN7SKP189 RN7SK pseudogene 189 pseudogene pseudogene Approved Xq27.3 Xq27.3 RNA, 7SK small nuclear pseudogene 189 2013-03-19 2019-03-27 2019-03-27 106479180 ENSG00000201912 uc065bkv.1 NG_043528 HGNC:45913 +HGNC:45914 RN7SKP190 RN7SK pseudogene 190 pseudogene pseudogene Approved 16q23.3 16q23.3 RNA, 7SK small nuclear pseudogene 190 2013-03-19 2019-03-27 2019-03-27 106480891 ENSG00000251888 uc021tlv.1 NG_044903 HGNC:45914 +HGNC:45915 RN7SKP191 RN7SK pseudogene 191 pseudogene pseudogene Approved 9q31.1 09q31.1 RNA, 7SK small nuclear pseudogene 191 2013-03-19 2019-03-27 2019-03-27 106480471 ENSG00000201583 uc022blg.1 NG_043622 HGNC:45915 +HGNC:45916 RN7SKP192 RN7SK pseudogene 192 pseudogene pseudogene Approved 11q12.1 11q12.1 RNA, 7SK small nuclear pseudogene 192 2013-03-19 2019-03-27 2019-03-27 106480892 ENSG00000223223 uc058brt.1 NG_044912 HGNC:45916 +HGNC:45917 RN7SKP193 RN7SK pseudogene 193 pseudogene pseudogene Approved 14q21.3 14q21.3 RNA, 7SK small nuclear pseudogene 193 2013-03-19 2019-03-27 2019-03-27 106479181 ENSG00000201358 uc059bic.1 NG_043537 HGNC:45917 +HGNC:45918 RN7SKP194 RN7SK pseudogene 194 pseudogene pseudogene Approved Xq21.33 Xq21.33 RNA, 7SK small nuclear pseudogene 194 2013-03-19 2019-03-27 2019-03-27 106480893 ENSG00000223260 uc065aez.1 NG_044918 HGNC:45918 +HGNC:45919 RN7SKP195 RN7SK pseudogene 195 pseudogene pseudogene Approved 1q43 01q43 RNA, 7SK small nuclear pseudogene 195 2013-03-19 2019-03-27 2019-03-27 106481816 ENSG00000252396 uc021pkw.1 NG_008799 HGNC:45919 +HGNC:45920 RN7SKP196 RN7SK pseudogene 196 pseudogene pseudogene Approved 10q21.1 10q21.1 RNA, 7SK small nuclear pseudogene 196 2013-03-19 2019-03-27 2019-03-27 106479182 ENSG00000252076 uc057tjw.1 NG_043546 HGNC:45920 +HGNC:45921 RN7SKP197 RN7SK pseudogene 197 pseudogene pseudogene Approved 12q24.23 12q24.23 RNA, 7SK small nuclear pseudogene 197 2013-03-19 2019-03-27 2019-03-27 106480894 ENSG00000252886 uc021req.1 NG_045209 HGNC:45921 +HGNC:45922 RN7SKP198 RN7SK pseudogene 198 pseudogene pseudogene Approved 7q22.1 07q22.1 RNA, 7SK small nuclear pseudogene 198 2013-03-19 2019-03-27 2019-03-27 106479183 ENSG00000238324 uc064gpx.1 NG_045067 HGNC:45922 +HGNC:45923 RN7SKP199 RN7SK pseudogene 199 pseudogene pseudogene Approved 4p12 04p12 RNA, 7SK small nuclear pseudogene 199 2013-03-19 2019-03-27 2019-03-27 106479184 ENSG00000222257 uc062wih.1 NG_043563 HGNC:45923 +HGNC:45924 RN7SKP200 RN7SK pseudogene 200 pseudogene pseudogene Approved 2q33.3 02q33.3 RNA, 7SK small nuclear pseudogene 200 2013-03-19 2019-03-27 2019-03-27 106480895 ENSG00000222496 uc061rtq.1 NG_045210 HGNC:45924 +HGNC:45926 RN7SKP202 RN7SK pseudogene 202 pseudogene pseudogene Approved 10q21.3 10q21.3 RNA, 7SK small nuclear pseudogene 202 2013-03-19 2019-03-27 2019-03-27 106480472 ENSG00000222371 uc021prs.1 NG_032118 HGNC:45926 +HGNC:45927 RN7SKP203 RN7SK pseudogene 203 pseudogene pseudogene Approved 2p12 02p12 RNA, 7SK small nuclear pseudogene 203 2013-03-19 2019-03-27 2019-03-27 106479185 ENSG00000200488 uc061lbm.1 NG_043572 HGNC:45927 +HGNC:45928 RN7SKP204 RN7SK pseudogene 204 pseudogene pseudogene Approved 6p23 06p23 RNA, 7SK small nuclear pseudogene 204 2013-03-19 2019-03-27 2019-03-27 106480896 ENSG00000202351 uc063lyn.1 NG_045005 HGNC:45928 +HGNC:45929 RN7SKP205 RN7SK pseudogene 205 pseudogene pseudogene Approved 14q11.2 14q11.2 RNA, 7SK small nuclear pseudogene 205 2013-03-19 2019-03-27 2019-03-27 106479186 ENSG00000222931 uc058zts.1 NG_043581 HGNC:45929 +HGNC:45930 RN7SKP206 RN7SK pseudogene 206 pseudogene pseudogene Approved 8q24.21 08q24.21 RNA, 7SK small nuclear pseudogene 206 2013-03-19 2019-03-27 2019-03-27 106479187 ENSG00000222755 uc022bbl.1 NG_043591 HGNC:45930 +HGNC:45931 RN7SKP207 RN7SK pseudogene 207 pseudogene pseudogene Approved 5p13.3 05p13.3 RNA, 7SK small nuclear pseudogene 207 2013-03-19 2019-03-27 2019-03-27 106480897 ENSG00000223136 uc063cqs.1 NG_042912 HGNC:45931 +HGNC:45932 RN7SKP208 RN7SK pseudogene 208 pseudogene pseudogene Approved 2p16.1 02p16.1 RNA, 7SK small nuclear pseudogene 208 2013-03-19 2019-03-27 2019-03-27 106481817 ENSG00000202344 uc021vhv.1 NG_044120 HGNC:45932 +HGNC:45933 RN7SKP209 RN7SK pseudogene 209 pseudogene pseudogene Approved 6q14.3 06q14.3 RNA, 7SK small nuclear pseudogene 209 2013-03-19 2019-03-27 2019-03-27 106479188 ENSG00000252697 uc063pyh.1 NG_043599 HGNC:45933 +HGNC:45934 RN7SKP210 RN7SK pseudogene 210 pseudogene pseudogene Approved 22q13.1 22q13.1 RNA, 7SK small nuclear pseudogene 210 2013-03-19 2019-03-27 2019-03-27 106480898 ENSG00000238875 uc062emd.1 NG_045246 HGNC:45934 +HGNC:45935 RN7SKP211 RN7SK pseudogene 211 pseudogene pseudogene Approved 6q21 06q21 RNA, 7SK small nuclear pseudogene 211 2013-03-19 2019-03-27 2019-03-27 106479189 ENSG00000200198 uc063qil.1 NG_043605 HGNC:45935 +HGNC:45936 RN7SKP212 RN7SK pseudogene 212 pseudogene pseudogene Approved 3q22.1 03q22.1 RNA, 7SK small nuclear pseudogene 212 2013-03-19 2019-03-27 2019-03-27 106481750 ENSG00000222783 uc062nuj.1 NG_043618 HGNC:45936 +HGNC:45937 RN7SKP213 RN7SK pseudogene 213 pseudogene pseudogene Approved 2q35 02q35 RNA, 7SK small nuclear pseudogene 213 2013-03-19 2019-03-27 2019-03-27 106480899 ENSG00000222678 uc061szk.1 NG_042926 HGNC:45937 +HGNC:45938 RN7SKP214 RN7SK pseudogene 214 pseudogene pseudogene Approved 22q12.3 22q12.3 RNA, 7SK small nuclear pseudogene 214 2013-03-19 2019-03-27 2019-03-27 106480473 ENSG00000201078 uc062dwa.1 NG_052003 HGNC:45938 +HGNC:45940 RN7SKP216 RN7SK pseudogene 216 pseudogene pseudogene Approved 12q24.21 12q24.21 RNA, 7SK small nuclear pseudogene 216 2013-03-19 2019-03-27 2019-03-27 106479190 ENSG00000222982 uc021ree.1 NG_043612 HGNC:45940 +HGNC:45941 RN7SKP217 RN7SK pseudogene 217 pseudogene pseudogene Approved 15q24.3 15q24.3 RNA, 7SK small nuclear pseudogene 217 2013-03-19 2019-03-27 2019-03-27 106479191 ENSG00000201510 uc059lxh.1 NG_043620 HGNC:45941 +HGNC:45942 RN7SKP218 RN7SK pseudogene 218 pseudogene pseudogene Approved 7p12.1 07p12.1 RNA, 7SK small nuclear pseudogene 218 2013-03-19 2019-03-27 2019-03-27 106480900 ENSG00000222154 uc064drr.1 NG_042934 HGNC:45942 +HGNC:45943 RN7SKP219 RN7SK pseudogene 219 pseudogene pseudogene Approved 10p12.31 10p12.31 RNA, 7SK small nuclear pseudogene 219 2013-03-19 2019-03-27 2019-03-27 106479192 ENSG00000252634 uc057seg.1 NG_043626 HGNC:45943 +HGNC:45944 RN7SKP220 RN7SK pseudogene 220 pseudogene pseudogene Approved 10p12.1 10p12.1 RNA, 7SK small nuclear pseudogene 220 2013-03-19 2019-03-27 2019-03-27 106480901 ENSG00000222543 uc057sib.1 NG_042942 HGNC:45944 +HGNC:45945 RN7SKP221 RN7SK pseudogene 221 pseudogene pseudogene Approved 22q11.21 22q11.21 RNA, 7SK small nuclear pseudogene 221 2013-03-19 2019-03-27 2019-03-27 106480474 ENSG00000222352 uc021wmi.1 NG_045524 HGNC:45945 +HGNC:45946 RN7SKP222 RN7SK pseudogene 222 pseudogene pseudogene Approved 3q28 03q28 RNA, 7SK small nuclear pseudogene 222 2013-03-19 2019-03-27 2019-03-27 106479193 ENSG00000222583 uc062rle.1 NG_043633 HGNC:45946 +HGNC:45947 RN7SKP223 RN7SK pseudogene 223 pseudogene pseudogene Approved 7q33 07q33 RNA, 7SK small nuclear pseudogene 223 2013-03-19 2019-03-27 2019-03-27 106479194 ENSG00000222514 uc064ijw.1 NG_023342 HGNC:45947 +HGNC:45948 RN7SKP224 RN7SK pseudogene 224 pseudogene pseudogene Approved 2p16.3 02p16.3 RNA, 7SK small nuclear pseudogene 224 2013-03-19 2019-03-27 2019-03-27 106480902 ENSG00000201010 uc061izt.1 NG_042950 HGNC:45948 +HGNC:45949 RN7SKP225 RN7SK pseudogene 225 pseudogene pseudogene Approved 9q22.33 09q22.33 RNA, 7SK small nuclear pseudogene 225 2013-03-19 2019-03-27 2019-03-27 106479195 ENSG00000222337 uc064utx.1 NG_043648 HGNC:45949 +HGNC:45950 RN7SKP226 RN7SK pseudogene 226 pseudogene pseudogene Approved 8q24.21 08q24.21 RNA, 7SK small nuclear pseudogene 226 2013-03-19 2019-03-27 2019-03-27 106480903 ENSG00000201782 uc064qep.1 NG_042958 HGNC:45950 +HGNC:45951 RN7SKP227 RN7SK pseudogene 227 pseudogene pseudogene Approved 3p22.2 03p22.2 RNA, 7SK small nuclear pseudogene 227 2013-03-19 2019-03-27 2019-03-27 106481818 ENSG00000201315 uc062iau.1 NG_044126 HGNC:45951 +HGNC:45952 RN7SKP228 RN7SK pseudogene 228 pseudogene pseudogene Approved 7p21.3 07p21.3 RNA, 7SK small nuclear pseudogene 228 2013-03-19 2019-03-27 2019-03-27 106479196 ENSG00000222974 uc064bpt.1 NG_043656 HGNC:45952 +HGNC:45953 RN7SKP229 RN7SK pseudogene 229 pseudogene pseudogene Approved 1q25.3 01q25.3 RNA, 7SK small nuclear pseudogene 229 2013-03-19 2019-03-27 2019-03-27 106480904 ENSG00000222397 uc057nsy.1 NG_042967 HGNC:45953 +HGNC:45954 RN7SKP230 RN7SK pseudogene 230 pseudogene pseudogene Approved 5q21.3 05q21.3 RNA, 7SK small nuclear pseudogene 230 2013-03-19 2019-03-27 2019-03-27 106479197 ENSG00000202512 uc021yce.1 NG_043663 HGNC:45954 +HGNC:45955 RN7SKP231 RN7SK pseudogene 231 pseudogene pseudogene Approved 8q21.3 08q21.3 RNA, 7SK small nuclear pseudogene 231 2013-03-19 2019-03-27 2019-03-27 106479198 ENSG00000200151 uc064okr.1 NG_043670 HGNC:45955 +HGNC:45956 RN7SKP232 RN7SK pseudogene 232 pseudogene pseudogene Approved 5q33.1 05q33.1 RNA, 7SK small nuclear pseudogene 232 2013-03-19 2019-03-27 2019-03-27 106480905 ENSG00000222102 uc063ivz.1 NG_042977 HGNC:45956 +HGNC:45957 RN7SKP233 RN7SK pseudogene 233 pseudogene pseudogene Approved 16q23.1 16q23.1 RNA, 7SK small nuclear pseudogene 233 2013-03-19 2019-03-27 2019-03-27 106480475 ENSG00000252814 uc021tlm.1 NG_043652 HGNC:45957 +HGNC:45958 RN7SKP234 RN7SK pseudogene 234 pseudogene pseudogene Approved 3q26.31 03q26.31 RNA, 7SK small nuclear pseudogene 234 2013-03-19 2019-03-27 2019-03-27 106480368 ENSG00000252982 uc021xhn.1 NG_046919 HGNC:45958 +HGNC:45959 RN7SKP235 RN7SK pseudogene 235 pseudogene pseudogene Approved 4q31.21 04q31.21 RNA, 7SK small nuclear pseudogene 235 2013-03-19 2019-03-27 2019-03-27 106479199 ENSG00000222594 uc062zyk.1 NG_043676 HGNC:45959 +HGNC:45960 RN7SKP236 RN7SK pseudogene 236 pseudogene pseudogene Approved 21q21.2 21q21.2 RNA, 7SK small nuclear pseudogene 236 2013-03-19 2019-03-27 2019-03-27 106480906 ENSG00000274662 uc061zgr.1 NG_042983 HGNC:45960 +HGNC:45961 RN7SKP237 RN7SK pseudogene 237 pseudogene pseudogene Approved 4q31.1 04q31.1 RNA, 7SK small nuclear pseudogene 237 2013-03-19 2019-03-27 2019-03-27 106479200 ENSG00000201533 uc062ztd.1 NG_043684 HGNC:45961 +HGNC:45962 RN7SKP238 RN7SK pseudogene 238 pseudogene pseudogene Approved 10q23.1 10q23.1 RNA, 7SK small nuclear pseudogene 238 2013-03-19 2019-03-27 2019-03-27 106479201 ENSG00000252292 uc021pvp.1 NG_011875 HGNC:45962 +HGNC:45963 RN7SKP239 RN7SK pseudogene 239 pseudogene pseudogene Approved 11q13.2 11q13.2 RNA, 7SK small nuclear pseudogene 239 2013-03-19 2019-03-27 2019-03-27 106480907 ENSG00000201684 uc021qmf.1 NG_045275 HGNC:45963 +HGNC:45964 RN7SKP240 RN7SK pseudogene 240 pseudogene pseudogene Approved 6p22.3 06p22.3 RNA, 7SK small nuclear pseudogene 240 2013-03-19 2019-03-27 2019-03-27 106479202 ENSG00000222515 uc063mcx.1 NG_045546 HGNC:45964 +HGNC:45965 RN7SKP241 RN7SK pseudogene 241 pseudogene pseudogene Approved 10p12.1 10p12.1 RNA, 7SK small nuclear pseudogene 241 2013-03-19 2019-03-27 2019-03-27 107063536 ENSG00000240294 uc021pok.1 NG_046354 HGNC:45965 +HGNC:45966 RN7SKP242 RN7SK pseudogene 242 pseudogene pseudogene Approved 9q21.32 09q21.32 RNA, 7SK small nuclear pseudogene 242 2013-03-19 2019-03-27 2019-03-27 106480908 ENSG00000251776 uc064tyr.1 NG_043001 HGNC:45966 +HGNC:45967 RN7SKP243 RN7SK pseudogene 243 pseudogene pseudogene Approved 11q13.4 11q13.4 RNA, 7SK small nuclear pseudogene 243 2013-03-19 2019-03-27 2019-03-27 106481819 ENSG00000199975 uc058fgy.1 NG_044135 HGNC:45967 +HGNC:45968 RN7SKP244 RN7SK pseudogene 244 pseudogene pseudogene Approved 4q22.1 04q22.1 RNA, 7SK small nuclear pseudogene 244 2013-03-19 2019-03-27 2019-03-27 106479203 ENSG00000252322 uc062ydk.1 NG_045088 HGNC:45968 +HGNC:45969 RN7SKP245 RN7SK pseudogene 245 pseudogene pseudogene Approved 6q23.2 06q23.2 RNA, 7SK small nuclear pseudogene 245 2013-03-19 2019-03-27 2019-03-27 106480909 ENSG00000200895 uc021zfi.1 NG_008206 HGNC:45969 +HGNC:45970 RN7SKP246 RN7SK pseudogene 246 pseudogene pseudogene Approved 5q31.3 05q31.3 RNA, 7SK small nuclear pseudogene 246 2013-03-19 2019-03-27 2019-03-27 106479204 ENSG00000201423 uc063igs.1 NG_043713 HGNC:45970 +HGNC:45971 RN7SKP247 RN7SK pseudogene 247 pseudogene pseudogene Approved 1p31.1 01p31.1 RNA, 7SK small nuclear pseudogene 247 2013-03-19 2019-03-27 2019-03-27 106479205 ENSG00000223026 uc057hwv.1 NG_043721 HGNC:45971 +HGNC:45972 RN7SKP248 RN7SK pseudogene 248 pseudogene pseudogene Approved 4q22.1 04q22.1 RNA, 7SK small nuclear pseudogene 248 2013-03-19 2019-03-27 2019-03-27 106480476 ENSG00000252087 uc021xqe.1 NG_045528 HGNC:45972 +HGNC:45973 RN7SKP249 RN7SK pseudogene 249 pseudogene pseudogene Approved 8q22.3 08q22.3 RNA, 7SK small nuclear pseudogene 249 2013-03-19 2019-03-27 2019-03-27 106480910 ENSG00000202360 uc022azk.1 NG_043018 HGNC:45973 +HGNC:45974 RN7SKP250 RN7SK pseudogene 250 pseudogene pseudogene Approved 12q24.11 12q24.11 RNA, 7SK small nuclear pseudogene 250 2013-03-19 2019-03-27 2019-03-27 106479206 ENSG00000200794 uc058tad.1 NG_043730 HGNC:45974 +HGNC:45975 RN7SKP251 RN7SK pseudogene 251 pseudogene pseudogene Approved 5q13.1 05q13.1 RNA, 7SK small nuclear pseudogene 251 2013-03-19 2019-03-27 2019-03-27 106633807 ENSG00000276309 uc063eej.1 NG_042879 HGNC:45975 +HGNC:45976 RN7SKP252 RN7SK pseudogene 252 pseudogene pseudogene Approved 22q13.33 22q13.33 RNA, 7SK small nuclear pseudogene 252 2013-03-19 2019-03-27 2019-03-27 106479207 ENSG00000223142 uc062fhx.1 NG_043738 HGNC:45976 +HGNC:45977 RN7SKP253 RN7SK pseudogene 253 pseudogene pseudogene Approved 4q31.1 04q31.1 RNA, 7SK small nuclear pseudogene 253 2013-03-19 2019-03-27 2019-03-27 106479208 ENSG00000252233 uc021xsh.1 NG_045560 HGNC:45977 +HGNC:45978 RN7SKP254 RN7SK pseudogene 254 pseudogene pseudogene Approved 15q26.2 15q26.2 RNA, 7SK small nuclear pseudogene 254 2013-03-19 2019-03-27 2019-03-27 106481820 ENSG00000222617 uc059nqq.1 NG_044141 HGNC:45978 +HGNC:45979 RN7SKP255 RN7SK pseudogene 255 pseudogene pseudogene Approved 14q32.11 14q32.11 RNA, 7SK small nuclear pseudogene 255 2013-03-19 2019-03-27 2019-03-27 106479209 ENSG00000200312 uc059eez.1 NG_043752 HGNC:45979 +HGNC:45980 RN7SKP256 RN7SK pseudogene 256 pseudogene pseudogene Approved 6p12.1 06p12.1 RNA, 7SK small nuclear pseudogene 256 2013-03-19 2019-03-27 2019-03-27 106480911 ENSG00000253010 uc063pbv.1 NG_043027 HGNC:45980 +HGNC:45981 RN7SKP257 RN7SK pseudogene 257 pseudogene pseudogene Approved 14q13.3 14q13.3 RNA, 7SK small nuclear pseudogene 257 2013-03-19 2019-03-27 2019-03-27 106479210 ENSG00000201395 uc059axi.1 NG_045567 HGNC:45981 +HGNC:45982 RN7SKP258 RN7SK pseudogene 258 pseudogene pseudogene Approved 9p22.1 09p22.1 RNA, 7SK small nuclear pseudogene 258 2013-03-19 2019-03-27 2019-03-27 106480912 ENSG00000252960 uc022bdt.1 NG_045290 HGNC:45982 +HGNC:45983 RN7SKP259 RN7SK pseudogene 259 pseudogene pseudogene Approved 11q12.1 11q12.1 RNA, 7SK small nuclear pseudogene 259 2013-03-19 2019-03-27 2019-03-27 106481751 ENSG00000222998 uc058bma.1 NG_043624 HGNC:45983 +HGNC:45984 RN7SKP260 RN7SK pseudogene 260 pseudogene pseudogene Approved 2q33.3 02q33.3 RNA, 7SK small nuclear pseudogene 260 2013-03-19 2019-03-27 2019-03-27 106479211 ENSG00000252716 uc061rts.1 NG_045094 HGNC:45984 +HGNC:45985 RN7SKP261 RN7SK pseudogene 261 pseudogene pseudogene Approved 12q21.31 12q21.31 RNA, 7SK small nuclear pseudogene 261 2013-03-19 2019-03-27 2019-03-27 106480477 ENSG00000222880 uc058rij.1 NG_033008 HGNC:45985 +HGNC:45986 RN7SKP262 RN7SK pseudogene 262 pseudogene pseudogene Approved 12p12.1 12p12.1 RNA, 7SK small nuclear pseudogene 262 2013-03-19 2019-03-27 2019-03-27 106479212 ENSG00000222950 uc058mbk.1 NG_043774 HGNC:45986 +HGNC:45987 RN7SKP263 RN7SK pseudogene 263 pseudogene pseudogene Approved 12q22 12q22 RNA, 7SK small nuclear pseudogene 263 2013-03-19 2019-03-27 2019-03-27 106480913 ENSG00000223126 uc021rby.1 NG_043047 HGNC:45987 +HGNC:45988 RN7SKP264 RN7SK pseudogene 264 pseudogene pseudogene Approved 9q21.33 09q21.33 RNA, 7SK small nuclear pseudogene 264 2013-03-19 2019-03-27 2019-03-27 106479213 ENSG00000223012 uc064ubt.1 NG_045575 HGNC:45988 +HGNC:45989 RN7SKP265 RN7SK pseudogene 265 pseudogene pseudogene Approved 3q26.33 03q26.33 RNA, 7SK small nuclear pseudogene 265 2013-03-19 2019-03-27 2019-03-27 106480914 ENSG00000252257 uc021xia.1 NG_045294 HGNC:45989 +HGNC:45990 RN7SKP266 RN7SK pseudogene 266 pseudogene pseudogene Approved 7p21.1 07p21.1 RNA, 7SK small nuclear pseudogene 266 2013-03-19 2019-03-27 2019-03-27 106479214 ENSG00000222164 uc064buq.1 NG_023250 HGNC:45990 +HGNC:45991 RN7SKP267 RN7SK pseudogene 267 pseudogene pseudogene Approved Xq28 Xq28 RNA, 7SK small nuclear pseudogene 267 2013-03-19 2019-03-27 2019-03-27 106480478 ENSG00000222313 uc065bme.1 NG_043672 HGNC:45991 +HGNC:45992 RN7SKP268 RN7SK pseudogene 268 pseudogene pseudogene Approved 6q25.1 06q25.1 RNA, 7SK small nuclear pseudogene 268 2013-03-19 2019-03-27 2019-03-27 106479215 ENSG00000223039 uc063sgz.1 NG_029875 HGNC:45992 +HGNC:45993 RN7SKP269 RN7SK pseudogene 269 pseudogene pseudogene Approved 1p36.22 01p36.22 RNA, 7SK small nuclear pseudogene 269 2013-03-19 2019-03-27 2019-03-27 106480915 ENSG00000202415 uc057cbr.1 NG_032954 HGNC:45993 +HGNC:45994 RN7SKP270 RN7SK pseudogene 270 pseudogene pseudogene Approved 1p21.3 01p21.3 RNA, 7SK small nuclear pseudogene 270 2013-03-19 2019-03-27 2019-03-27 106479216 ENSG00000223229 uc021oqh.1 NG_043806 HGNC:45994 +HGNC:45995 RN7SKP271 RN7SK pseudogene 271 pseudogene pseudogene Approved 20q11.22 20q11.22 RNA, 7SK small nuclear pseudogene 271 2013-03-19 2019-03-27 2019-03-27 106480916 ENSG00000222460 uc021wcp.1 NG_045016 HGNC:45995 +HGNC:45996 RN7SKP272 RN7SK pseudogene 272 pseudogene pseudogene Approved 1p22.2 01p22.2 RNA, 7SK small nuclear pseudogene 272 2013-03-19 2019-03-27 2019-03-27 106479217 ENSG00000252797 uc021opr.1 NG_043816 HGNC:45996 +HGNC:45997 RN7SKP273 RN7SK pseudogene 273 pseudogene pseudogene Approved 11q23.1 11q23.1 RNA, 7SK small nuclear pseudogene 273 2013-03-19 2019-03-27 2019-03-27 106481821 ENSG00000223324 uc058heu.1 NG_045730 HGNC:45997 +HGNC:45999 RN7SKP275 RN7SK pseudogene 275 pseudogene pseudogene Approved 4p16.2 04p16.2 RNA, 7SK small nuclear pseudogene 275 2013-03-19 2019-03-27 2019-03-27 106480917 ENSG00000201496 uc062uxi.1 NG_051593 HGNC:45999 +HGNC:46000 RN7SKP276 RN7SK pseudogene 276 pseudogene pseudogene Approved 1q42.13 01q42.13 RNA, 7SK small nuclear pseudogene 276 2013-03-19 2019-03-27 2019-03-27 106479218 ENSG00000252051 uc057qfy.1 NG_043823 HGNC:46000 +HGNC:46001 RN7SKP277 RN7SK pseudogene 277 pseudogene pseudogene Approved 7q31.32 07q31.32 RNA, 7SK small nuclear pseudogene 277 2013-03-19 2019-03-27 2019-03-27 106479219 ENSG00000252704 uc022akn.1 NG_043832 HGNC:46001 +HGNC:46002 RN7SKP278 RN7SK pseudogene 278 pseudogene pseudogene Approved 10q25.1 10q25.1 RNA, 7SK small nuclear pseudogene 278 2013-03-19 2019-03-27 2019-03-27 106480918 ENSG00000222436 uc021pxy.1 NG_043088 HGNC:46002 +HGNC:46003 RN7SKP279 RN7SK pseudogene 279 pseudogene pseudogene Approved 11q24.2 11q24.2 RNA, 7SK small nuclear pseudogene 279 2013-03-19 2019-03-27 2019-03-27 106480479 ENSG00000223315 uc058jai.1 NG_043679 HGNC:46003 +HGNC:46004 RN7SKP280 RN7SK pseudogene 280 pseudogene pseudogene Approved 7q36.2 07q36.2 RNA, 7SK small nuclear pseudogene 280 2013-03-19 2019-03-27 2019-03-27 106479220 ENSG00000201066 uc064joi.1 NG_043839 HGNC:46004 +HGNC:46005 RN7SKP281 RN7SK pseudogene 281 pseudogene pseudogene Approved 2q24.1 02q24.1 RNA, 7SK small nuclear pseudogene 281 2013-03-19 2019-03-27 2019-03-27 106480369 ENSG00000222404 uc061otb.1 NG_045200 HGNC:46005 +HGNC:46006 RN7SKP282 RN7SK pseudogene 282 pseudogene pseudogene Approved Yp11.2 Yp11.2 RNA, 7SK small nuclear pseudogene 282 2013-03-19 2019-03-27 2019-03-27 106480919 ENSG00000252633 uc065cqe.1 NG_043096 HGNC:46006 +HGNC:46007 RN7SKP283 RN7SK pseudogene 283 pseudogene pseudogene Approved 2q36.3 02q36.3 RNA, 7SK small nuclear pseudogene 283 2013-03-19 2019-03-27 2019-03-27 106479221 ENSG00000253006 uc061tgy.1 NG_045098 HGNC:46007 +HGNC:46008 RN7SKP284 RN7SK pseudogene 284 pseudogene pseudogene Approved 3p12.1 03p12.1 RNA, 7SK small nuclear pseudogene 284 2013-03-19 2019-03-27 2019-03-27 106479222 ENSG00000222934 uc062lru.1 NG_043852 HGNC:46008 +HGNC:46009 RN7SKP285 RN7SK pseudogene 285 pseudogene pseudogene Approved 1p21.1 01p21.1 RNA, 7SK small nuclear pseudogene 285 2013-03-19 2019-03-27 2019-03-27 106480920 ENSG00000222069 uc057iss.1 NG_043105 HGNC:46009 +HGNC:46010 RN7SKP286 RN7SK pseudogene 286 pseudogene pseudogene Approved 2q22.1 02q22.1 RNA, 7SK small nuclear pseudogene 286 2013-03-19 2019-03-27 2019-03-27 106481822 ENSG00000222826 uc061odg.1 NG_044153 HGNC:46010 +HGNC:46011 RN7SKP287 RN7SK pseudogene 287 pseudogene pseudogene Approved 11p12 11p12 RNA, 7SK small nuclear pseudogene 287 2013-03-19 2019-03-27 2019-03-27 106480921 ENSG00000252355 uc021qgj.1 NG_043116 HGNC:46011 +HGNC:46012 RN7SKP288 RN7SK pseudogene 288 pseudogene pseudogene Approved 10q25.2 10q25.2 RNA, 7SK small nuclear pseudogene 288 2013-03-19 2019-03-27 2019-03-27 106479223 ENSG00000252036 uc021pyd.1 NG_045608 HGNC:46012 +HGNC:46013 RN7SKP289 RN7SK pseudogene 289 pseudogene pseudogene Approved 12q13.13 12q13.13 RNA, 7SK small nuclear pseudogene 289 2013-03-19 2019-03-27 2019-03-27 106479224 ENSG00000253053 uc058otj.1 NG_043862 HGNC:46013 +HGNC:46014 RN7SKP290 RN7SK pseudogene 290 pseudogene pseudogene Approved Xp22.2 Xp22.2 RNA, 7SK small nuclear pseudogene 290 2013-03-19 2019-03-27 2019-03-27 106480480 ENSG00000271814 uc064xzs.1 NG_043689 HGNC:46014 +HGNC:46015 RN7SKP291 RN7SK pseudogene 291 pseudogene pseudogene Approved 1p32.3 01p32.3 RNA, 7SK small nuclear pseudogene 291 2013-03-19 2019-03-27 2019-03-27 106480922 ENSG00000199831 uc021onz.1 NG_043123 HGNC:46015 +HGNC:46016 RN7SKP292 RN7SK pseudogene 292 pseudogene pseudogene Approved 4p16.1 04p16.1 RNA, 7SK small nuclear pseudogene 292 2013-03-19 2019-03-27 2019-03-27 106479225 ENSG00000202392 uc062uzb.1 NG_045614 HGNC:46016 +HGNC:46017 RN7SKP293 RN7SK pseudogene 293 pseudogene pseudogene Approved 6p24.1 06p24.1 RNA, 7SK small nuclear pseudogene 293 2013-03-19 2019-03-27 2019-03-27 106480923 ENSG00000223321 uc063lxg.1 NG_043131 HGNC:46017 +HGNC:46018 RN7SKP294 RN7SK pseudogene 294 pseudogene pseudogene Approved 8q11.21 08q11.21 RNA, 7SK small nuclear pseudogene 294 2013-03-19 2019-03-27 2019-03-27 106479226 ENSG00000199640 uc064msa.1 NG_043877 HGNC:46018 +HGNC:46019 RN7SKP295 RN7SK pseudogene 295 pseudogene pseudogene Approved 5q14.3 05q14.3 RNA, 7SK small nuclear pseudogene 295 2013-03-19 2019-03-27 2019-03-27 106480924 ENSG00000253073 uc063fch.1 NG_043139 HGNC:46019 +HGNC:46020 RN7SKP296 RN7SK pseudogene 296 pseudogene pseudogene Approved 3q28 03q28 RNA, 7SK small nuclear pseudogene 296 2013-03-19 2019-03-27 2019-03-27 106481823 ENSG00000223117 uc021xit.1 NG_045739 HGNC:46020 +HGNC:46021 RN7SKP297 RN7SK pseudogene 297 pseudogene pseudogene Approved 11q13.4 11q13.4 RNA, 7SK small nuclear pseudogene 297 2013-03-19 2019-03-27 2019-03-27 106479227 ENSG00000223202 uc058fkh.1 NG_043884 HGNC:46021 +HGNC:46022 RN7SKP298 RN7SK pseudogene 298 pseudogene pseudogene Approved 3q26.1 03q26.1 RNA, 7SK small nuclear pseudogene 298 2013-03-19 2019-03-27 2019-03-27 106479228 ENSG00000251759 uc021xgz.1 NG_043894 HGNC:46022 +HGNC:46023 RN7SKP299 RN7SK pseudogene 299 pseudogene pseudogene Approved 6q23.3 06q23.3 RNA, 7SK small nuclear pseudogene 299 2013-03-19 2019-03-27 2019-03-27 106480925 ENSG00000271765 uc021zfs.1 NG_043147 HGNC:46023 +HGNC:10038 RN7SL1 RNA component of signal recognition particle 7SL1 non-coding RNA RNA, long non-coding Approved 14q21.3 14q21.3 "7SL|7L1a|RNSRP1" SRP RNA 1 RN7SL "RNA, 7SL, cytoplasmic|RNA, 7SL, cytoplasmic 1" "Signal recognition particle|Long non-coding RNAs with non-systematic symbols" "1876|1992" 1994-07-11 2003-09-26 2019-03-27 2021-12-15 6029 ENSG00000276168 OTTHUMG00000171559 uc021rsp.2 X04248 NR_002715 "6084597|15667936" RGD:8157638 612177 7SL HGNC:10038 +HGNC:23134 RN7SL2 RNA component of signal recognition particle 7SL2 non-coding RNA RNA, long non-coding Approved 14q21.3 14q21.3 "7SL1c|7L30.1|RNSRP2" SRP RNA 2 RNA, 7SL, cytoplasmic 2 "Signal recognition particle|Long non-coding RNAs with non-systematic symbols" "1876|1992" 2003-09-24 2019-03-27 2021-12-15 378706 ENSG00000274012 OTTHUMG00000189346 uc021rst.3 X04249 NR_027260 15667936 612179 7SL HGNC:23134 +HGNC:23135 RN7SL3 RNA component of signal recognition particle 7SL3 non-coding RNA RNA, long non-coding Approved 14q21.3 14q21.3 "7L30.2|RNSRP3" SRP RNA 3 RN7SL631P "RNA, 7SL, cytoplasmic 631, pseudogene|RNA, 7SL, cytoplasmic 3" "Signal recognition particle|Long non-coding RNAs with non-systematic symbols" "1876|1992" 2003-09-24 2019-03-27 2021-12-15 378707 ENSG00000278771 uc059bhk.1 X04251 NG_011406 15667936 612180 7SL HGNC:23135 +HGNC:10039 RN7SL4P RNA, 7SL, cytoplasmic 4, pseudogene pseudogene pseudogene Approved 3p24.3 03p24.3 7L28 "RN7SLP1|RN7SL427P" "RNA, 7SL, cytoplasmic, pseudogene 1|RNA, 7SL, cytoplasmic 427, pseudogene" 1994-07-14 2010-02-04 2010-02-04 2014-11-18 6030 ENSG00000263740 uc062hei.1 X04250 NG_002425 6084597 HGNC:10039 +HGNC:10040 RN7SL5P RNA, 7SL, cytoplasmic 5, pseudogene pseudogene pseudogene Approved 9p23 09p23 7LEM1 "RN7SLP2|RN7SL249P" "RNA, 7SL, cytoplasmic, pseudogene 2|RNA, 7SL, cytoplasmic 249, pseudogene" 1994-07-14 2010-02-04 2010-02-04 2014-11-19 6031 ENSG00000265735 uc022bdl.2 X04252 NG_002426 6084597 HGNC:10040 +HGNC:10041 RN7SL6P RNA, 7SL, cytoplasmic 6, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 7L7 "RN7SLP3|RN7SL848P" "RNA, 7SL, cytoplasmic, pseudogene 3|RNA, 7SL, cytoplasmic 848, pseudogene" 1994-07-14 2010-02-04 2010-02-04 2017-02-17 6032 X04253 NG_002427 6084597 HGNC:10041 +HGNC:10042 RN7SL7P RNA, 7SL, cytoplasmic 7, pseudogene pseudogene pseudogene Approved 7q21.2 07q21.2 7L23 "RN7SLP4|RN7SL27P" "RNA, 7SL, cytoplasmic, pseudogene 4|RNA, 7SL, cytoplasmic 27, pseudogene" 1994-07-14 2010-02-04 2010-02-04 2014-11-19 6033 ENSG00000266794 uc064fiz.1 X04254 NG_002428 6084597 HGNC:10042 +HGNC:10043 RN7SL8P RNA, 7SL, cytoplasmic 8, pseudogene pseudogene pseudogene Approved 7q22.3 07q22.3 7L63 "RN7SLP5|RN7SL433P" "RNA, 7SL, cytoplasmic, pseudogene 5|RNA, 7SL, cytoplasmic 433, pseudogene" 1994-07-14 2010-02-04 2010-02-04 2014-11-19 6034 ENSG00000243352 uc064gss.1 X04255 NG_002429 6084597 HGNC:10043 +HGNC:46027 RN7SL11P RNA, 7SL, cytoplasmic 11, pseudogene pseudogene pseudogene Approved 6q15 06q15 2013-04-02 2013-04-02 106479229 ENSG00000239316 uc063qbe.1 NG_045621 HGNC:46027 +HGNC:46028 RN7SL12P RNA, 7SL, cytoplasmic 12, pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 2013-04-02 2013-04-02 106480926 ENSG00000239553 uc058eat.1 NG_045340 HGNC:46028 +HGNC:46030 RN7SL14P RNA, 7SL, cytoplasmic 14, pseudogene pseudogene pseudogene Approved 20p11.23 20p11.23 2013-04-02 2013-04-02 106480481 ENSG00000266720 uc061vpn.1 NG_043696 HGNC:46030 +HGNC:46031 RN7SL15P RNA, 7SL, cytoplasmic 15, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 2013-04-02 2013-04-02 106479230 ENSG00000264573 uc064yql.1 NG_043908 HGNC:46031 +HGNC:46032 RN7SL16P RNA, 7SL, cytoplasmic 16, pseudogene pseudogene pseudogene Approved 4p15.2 04p15.2 2013-04-02 2013-04-02 106479231 ENSG00000243005 uc062vqf.1 NG_045629 HGNC:46032 +HGNC:46034 RN7SL18P RNA, 7SL, cytoplasmic 18, pseudogene pseudogene pseudogene Approved 2p15 02p15 2013-04-02 2013-04-02 106480927 ENSG00000241625 uc061jps.1 NG_045024 HGNC:46034 +HGNC:46035 RN7SL19P RNA, 7SL, cytoplasmic 19, pseudogene pseudogene pseudogene Approved 8q13.3 08q13.3 2013-04-02 2013-04-02 106480370 ENSG00000243532 uc064npi.1 NG_045999 HGNC:46035 +HGNC:46036 RN7SL20P RNA, 7SL, cytoplasmic 20, pseudogene pseudogene pseudogene Approved 22q12.2 22q12.2 2013-04-02 2013-04-02 106479232 ENSG00000242251 uc062dlm.1 NG_034067 HGNC:46036 +HGNC:46038 RN7SL22P RNA, 7SL, cytoplasmic 22, pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 2013-04-02 2013-04-02 106480928 ENSG00000243136 uc064sxy.1 NG_045348 HGNC:46038 +HGNC:46039 RN7SL23P RNA, 7SL, cytoplasmic 23, pseudogene pseudogene pseudogene Approved 11q12.2 11q12.2 2013-04-02 2013-04-02 106480482 ENSG00000240823 uc058cdd.1 NG_023393 HGNC:46039 +HGNC:46041 RN7SL25P RNA, 7SL, cytoplasmic 25, pseudogene pseudogene pseudogene Approved 9p24.1 09p24.1 2013-04-02 2013-04-02 106479233 ENSG00000264530 uc064sbe.1 NG_016397 HGNC:46041 +HGNC:46042 RN7SL26P RNA, 7SL, cytoplasmic 26, pseudogene pseudogene pseudogene Approved 6p21.31 06p21.31 2013-04-02 2013-04-02 106479234 ENSG00000242014 uc063nyc.1 NG_043931 HGNC:46042 +HGNC:46044 RN7SL28P RNA, 7SL, cytoplasmic 28, pseudogene pseudogene pseudogene Approved 4q35.1 04q35.1 2013-04-02 2013-04-02 106480929 ENSG00000244512 uc063bhj.1 NG_045026 HGNC:46044 +HGNC:46046 RN7SL30P RNA, 7SL, cytoplasmic 30, pseudogene pseudogene pseudogene Approved 9q33.3 09q33.3 2013-04-02 2013-04-02 106479235 ENSG00000243845 uc064vsd.1 NG_045645 HGNC:46046 +HGNC:46048 RN7SL32P RNA, 7SL, cytoplasmic 32, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2013-04-02 2013-04-02 106480930 ENSG00000263941 uc061ttf.1 NG_045355 HGNC:46048 +HGNC:46049 RN7SL33P RNA, 7SL, cytoplasmic 33, pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 2013-04-02 2013-04-02 106479236 ENSG00000243049 uc059znq.1 NG_043947 HGNC:46049 +HGNC:46050 RN7SL34P RNA, 7SL, cytoplasmic 34, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 2013-04-02 2013-04-02 106481824 ENSG00000239868 uc060yzs.1 NG_044170 HGNC:46050 +HGNC:46051 RN7SL35P RNA, 7SL, cytoplasmic 35, pseudogene pseudogene pseudogene Approved 7q21.11 07q21.11 2013-04-02 2013-04-02 106480931 ENSG00000240347 uc064euj.1 NG_043197 HGNC:46051 +HGNC:46052 RN7SL36P RNA, 7SL, cytoplasmic 36, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-04-02 2013-04-02 106479237 ENSG00000244314 uc062rqk.1 NG_045651 HGNC:46052 +HGNC:46053 RN7SL37P RNA, 7SL, cytoplasmic 37, pseudogene pseudogene pseudogene Approved 5p13.2 05p13.2 2013-04-02 2013-04-02 106479238 ENSG00000242493 uc032ura.2 NG_032772 HGNC:46053 +HGNC:46054 RN7SL38P RNA, 7SL, cytoplasmic 38, pseudogene pseudogene pseudogene Approved 12p12.1 12p12.1 2013-04-02 2013-04-02 106480932 ENSG00000240481 uc058lzb.1 NG_043204 HGNC:46054 +HGNC:46055 RN7SL39P RNA, 7SL, cytoplasmic 39, pseudogene pseudogene pseudogene Approved 18p11.31 18p11.31 2013-04-02 2013-04-02 106479239 ENSG00000241223 uc060myp.1 NG_045660 HGNC:46055 +HGNC:46056 RN7SL40P RNA, 7SL, cytoplasmic 40, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-04-02 2013-04-02 106480483 ENSG00000242696 uc061rni.1 NG_045089 HGNC:46056 +HGNC:46057 RN7SL41P RNA, 7SL, cytoplasmic 41, pseudogene pseudogene pseudogene Approved 8q21.13 08q21.13 2013-04-02 2013-04-02 106480933 ENSG00000241550 uc064nyc.1 NG_043212 HGNC:46057 +HGNC:46058 RN7SL42P RNA, 7SL, cytoplasmic 42, pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 2013-04-02 2013-04-02 106479240 ENSG00000263999 uc058bri.1 NG_045664 HGNC:46058 +HGNC:46059 RN7SL43P RNA, 7SL, cytoplasmic 43, pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 2013-04-02 2015-02-11 106479241 ENSG00000275878 uc064ebb.1 NG_043983 HGNC:46059 +HGNC:46060 RN7SL44P RNA, 7SL, cytoplasmic 44, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-04-02 2013-04-02 106480934 ENSG00000263841 uc057lbe.1 NG_043221 HGNC:46060 +HGNC:46061 RN7SL45P RNA, 7SL, cytoplasmic 45, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-04-02 2013-04-02 106481975 ENSG00000264862 uc060drl.1 NG_051977 HGNC:46061 +HGNC:46063 RN7SL47P RNA, 7SL, cytoplasmic 47, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-04-02 2013-04-02 106479242 ENSG00000244710 uc063qix.1 NG_045672 HGNC:46063 +HGNC:46064 RN7SL48P RNA, 7SL, cytoplasmic 48, pseudogene pseudogene pseudogene Approved Xp22.13 Xp22.13 2013-04-02 2013-04-02 106481825 ENSG00000266710 uc064ygb.1 NG_045746 HGNC:46064 +HGNC:46065 RN7SL49P RNA, 7SL, cytoplasmic 49, pseudogene pseudogene pseudogene Approved 13q14.12 13q14.12 2013-04-02 2013-04-02 106480935 ENSG00000265802 uc058wtp.1 NG_045369 HGNC:46065 +HGNC:46066 RN7SL50P RNA, 7SL, cytoplasmic 50, pseudogene pseudogene pseudogene Approved 18p11.23 18p11.23 2013-04-02 2013-04-02 106479243 ENSG00000242985 uc021ugu.2 NG_043993 HGNC:46066 +HGNC:46067 RN7SL51P RNA, 7SL, cytoplasmic 51, pseudogene pseudogene pseudogene Approved 2p15 02p15 2013-04-02 2013-04-02 106480936 ENSG00000239958 uc021vij.1 NG_045032 HGNC:46067 +HGNC:46068 RN7SL52P RNA, 7SL, cytoplasmic 52, pseudogene pseudogene pseudogene Approved 21p11.2 21p11.2 2013-04-02 2013-04-02 106480937 ENSG00000264002 uc061zag.1 NG_043253 HGNC:46068 +HGNC:46071 RN7SL55P RNA, 7SL, cytoplasmic 55, pseudogene pseudogene pseudogene Approved 4q25 04q25 2013-04-02 2013-04-02 106479244 ENSG00000243227 uc062yyn.1 NG_032166 HGNC:46071 +HGNC:46073 RN7SL57P RNA, 7SL, cytoplasmic 57, pseudogene pseudogene pseudogene Approved 9q32 09q32 2013-04-02 2013-04-02 106480484 ENSG00000242256 uc064vcb.1 NG_045550 HGNC:46073 +HGNC:46074 RN7SL58P RNA, 7SL, cytoplasmic 58, pseudogene pseudogene pseudogene Approved 5p14.3 05p14.3 2013-04-02 2013-04-02 106479245 ENSG00000241552 uc063cnu.1 NG_044011 HGNC:46074 +HGNC:46076 RN7SL60P RNA, 7SL, cytoplasmic 60, pseudogene pseudogene pseudogene Approved 13q32.3 13q32.3 2013-04-02 2013-04-02 106480938 ENSG00000243366 uc058xyf.1 NG_043262 HGNC:46076 +HGNC:46078 RN7SL62P RNA, 7SL, cytoplasmic 62, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2013-04-02 2013-04-02 106479246 ENSG00000239640 uc057gpd.1 NG_044018 HGNC:46078 +HGNC:46079 RN7SL63P RNA, 7SL, cytoplasmic 63, pseudogene pseudogene pseudogene Approved 10p11.23 10p11.23 2013-04-02 2013-04-02 106480939 ENSG00000239744 uc057snq.1 NG_043272 HGNC:46079 +HGNC:46081 RN7SL65P RNA, 7SL, cytoplasmic 65, pseudogene pseudogene pseudogene Approved 2q31.1 02q31.1 2013-04-02 2013-04-02 106479247 ENSG00000243770 uc061pue.1 NG_051001 HGNC:46081 +HGNC:46082 RN7SL66P RNA, 7SL, cytoplasmic 66, pseudogene pseudogene pseudogene Approved 2p25.1 02p25.1 2013-04-02 2013-04-02 106480485 ENSG00000264030 uc061gqh.1 NG_043726 HGNC:46082 +HGNC:46083 RN7SL67P RNA, 7SL, cytoplasmic 67, pseudogene pseudogene pseudogene Approved 12p12.3 12p12.3 2013-04-02 2013-04-02 106479248 ENSG00000243854 uc058lsq.1 NG_045689 HGNC:46083 +HGNC:46084 RN7SL68P RNA, 7SL, cytoplasmic 68, pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 2013-04-02 2013-04-02 107080632 ENSG00000242020 uc063iau.1 NG_000012 HGNC:46084 +HGNC:46085 RN7SL69P RNA, 7SL, cytoplasmic 69, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 2013-04-02 2013-04-02 106480940 ENSG00000240533 uc021qtu.2 NG_009072 HGNC:46085 +HGNC:46086 RN7SL70P RNA, 7SL, cytoplasmic 70, pseudogene pseudogene pseudogene Approved 19p13.11 19p13.11 2013-04-02 2013-04-02 106479249 ENSG00000241172 uc060vvt.1 NG_044043 HGNC:46086 +HGNC:46088 RN7SL72P RNA, 7SL, cytoplasmic 72, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 2013-04-02 2013-04-02 106480941 ENSG00000243374 uc064iza.1 NG_045034 HGNC:46088 +HGNC:46089 RN7SL73P RNA, 7SL, cytoplasmic 73, pseudogene pseudogene pseudogene Approved 21q22.12 21q22.12 2013-04-02 2013-04-02 106479250 ENSG00000265882 uc062rrp.1 NG_044054 HGNC:46089 +HGNC:46090 RN7SL74P RNA, 7SL, cytoplasmic 74, pseudogene pseudogene pseudogene Approved Xq21.33 Xq21.33 2013-04-02 2013-04-02 106480942 ENSG00000265260 uc065aff.1 NG_008433 HGNC:46090 +HGNC:46091 RN7SL75P RNA, 7SL, cytoplasmic 75, pseudogene pseudogene pseudogene Approved 9q31.1 09q31.1 2013-04-02 2013-04-02 107063539 ENSG00000239908 uc064uuu.1 NG_046357 HGNC:46091 +HGNC:46092 RN7SL76P RNA, 7SL, cytoplasmic 76, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 2013-04-02 2013-04-02 106479251 ENSG00000241959 uc064jkq.1 NG_045126 HGNC:46092 +HGNC:46093 RN7SL77P RNA, 7SL, cytoplasmic 77, pseudogene pseudogene pseudogene Approved 14q24.2 14q24.2 2013-04-02 2013-04-02 106479252 ENSG00000240837 uc059cxg.1 NG_044071 HGNC:46093 +HGNC:46094 RN7SL78P RNA, 7SL, cytoplasmic 78, pseudogene pseudogene pseudogene Approved 10q23.31 10q23.31 2013-04-02 2013-04-02 106481752 ENSG00000243782 uc057usg.1 NG_043631 HGNC:46094 +HGNC:46095 RN7SL79P RNA, 7SL, cytoplasmic 79, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-04-02 2013-04-02 106480943 ENSG00000239595 uc060drh.1 NG_051977 HGNC:46095 +HGNC:46097 RN7SL81P RNA, 7SL, cytoplasmic 81, pseudogene pseudogene pseudogene Approved 7q32.1 07q32.1 2013-04-02 2013-04-02 106479253 ENSG00000244218 uc064hvh.1 NG_033110 HGNC:46097 +HGNC:46098 RN7SL82P RNA, 7SL, cytoplasmic 82, pseudogene pseudogene pseudogene Approved 15q13.2 15q13.2 2013-04-02 2015-02-12 106480944 ENSG00000278696 uc059hby.1 NG_045396 HGNC:46098 +HGNC:46099 RN7SL83P RNA, 7SL, cytoplasmic 83, pseudogene pseudogene pseudogene Approved 7p14.1 07p14.1 2013-04-02 2013-04-02 106479254 ENSG00000241756 uc064cyl.1 NG_045704 HGNC:46099 +HGNC:46103 RN7SL87P RNA, 7SL, cytoplasmic 87, pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 2013-04-02 2013-04-02 106479255 ENSG00000239390 uc021yfc.2 NG_044096 HGNC:46103 +HGNC:46104 RN7SL88P RNA, 7SL, cytoplasmic 88, pseudogene pseudogene pseudogene Approved 12q23.1 12q23.1 2013-04-02 2015-02-12 106480945 ENSG00000277062 uc058sac.1 NG_043322 HGNC:46104 +HGNC:46105 RN7SL89P RNA, 7SL, cytoplasmic 89, pseudogene pseudogene pseudogene Approved 4q24 04q24 2013-04-02 2013-04-02 106479256 ENSG00000243383 uc062ysh.1 NG_044107 HGNC:46105 +HGNC:46107 RN7SL91P RNA, 7SL, cytoplasmic 91, pseudogene pseudogene pseudogene Approved Xp21.3 Xp21.3 2013-04-02 2013-04-02 106480946 ENSG00000240439 uc064yke.1 NG_043329 HGNC:46107 +HGNC:46108 RN7SL92P RNA, 7SL, cytoplasmic 92, pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 2013-04-02 2013-04-02 106479257 ENSG00000265592 uc062lpe.1 NG_045712 HGNC:46108 +HGNC:46109 RN7SL93P RNA, 7SL, cytoplasmic 93, pseudogene pseudogene pseudogene Approved Xq23 Xq23 2013-04-02 2013-04-02 106480947 ENSG00000240327 uc065auc.1 NG_043339 HGNC:46109 +HGNC:46112 RN7SL96P RNA, 7SL, cytoplasmic 96, pseudogene pseudogene pseudogene Approved 2p22.1 02p22.1 2013-04-02 2013-04-02 106480486 ENSG00000265905 uc061ikf.1 NG_045092 HGNC:46112 +HGNC:46113 RN7SL97P RNA, 7SL, cytoplasmic 97, pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 2013-04-02 2013-04-02 106479258 ENSG00000242216 uc021uii.2 NG_044121 HGNC:46113 +HGNC:46114 RN7SL98P RNA, 7SL, cytoplasmic 98, pseudogene pseudogene pseudogene Approved 9p22.3 09p22.3 2013-04-02 2013-04-02 106479259 ENSG00000240613 uc064sfn.1 NG_045721 HGNC:46114 +HGNC:46116 RN7SL100P RNA, 7SL, cytoplasmic 100, pseudogene pseudogene pseudogene Approved 9p21.2 09p21.2 2013-04-02 2013-04-02 106480948 ENSG00000240306 uc064slr.1 NG_043346 HGNC:46116 +HGNC:46117 RN7SL101P RNA, 7SL, cytoplasmic 101, pseudogene pseudogene pseudogene Approved 4p15.1 04p15.1 2013-04-02 2013-04-02 106479260 ENSG00000243548 uc021xna.1 NG_044136 HGNC:46117 +HGNC:46120 RN7SL104P RNA, 7SL, cytoplasmic 104, pseudogene pseudogene pseudogene Approved 2p24.3 02p24.3 2013-04-02 2013-04-02 106480949 ENSG00000243541 uc061gvo.1 NG_045042 HGNC:46120 +HGNC:46121 RN7SL105P RNA, 7SL, cytoplasmic 105, pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 2013-04-02 2013-04-02 106480487 ENSG00000243704 uc059zgx.1 NG_045557 HGNC:46121 +HGNC:46122 RN7SL106P RNA, 7SL, cytoplasmic 106, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-04-02 2015-01-29 106479261 ENSG00000273981 uc059gsk.1 NG_045728 HGNC:46122 +HGNC:46123 RN7SL107P RNA, 7SL, cytoplasmic 107, pseudogene pseudogene pseudogene Approved 8q21.13 08q21.13 2013-04-02 2013-04-02 106479262 ENSG00000243424 uc064nyn.1 NG_044149 HGNC:46123 +HGNC:46124 RN7SL108P RNA, 7SL, cytoplasmic 108, pseudogene pseudogene pseudogene Approved 14q24.1 14q24.1 2013-04-02 2013-04-02 106480950 ENSG00000243546 uc021rvd.2 NG_023267 HGNC:46124 +HGNC:46126 RN7SL110P RNA, 7SL, cytoplasmic 110, pseudogene pseudogene pseudogene Approved 3p25.1 03p25.1 2013-04-02 2013-04-02 106480371 ENSG00000241064 uc062hde.1 NG_009032 HGNC:46126 +HGNC:46127 RN7SL111P RNA, 7SL, cytoplasmic 111, pseudogene pseudogene pseudogene Approved 2q14.1 02q14.1 2013-04-02 2013-04-02 106479263 ENSG00000243510 uc061nhf.1 NG_045139 HGNC:46127 +HGNC:46129 RN7SL113P RNA, 7SL, cytoplasmic 113, pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 2013-04-02 2015-01-29 106480951 ENSG00000278590 uc061lgc.1 NG_051291 HGNC:46129 +HGNC:46132 RN7SL116P RNA, 7SL, cytoplasmic 116, pseudogene pseudogene pseudogene Approved 20q11.23 20q11.23 2013-04-02 2013-04-02 106480488 ENSG00000240474 uc021wdo.2 NG_045561 HGNC:46132 +HGNC:46133 RN7SL117P RNA, 7SL, cytoplasmic 117, pseudogene pseudogene pseudogene Approved 2p24.1 02p24.1 2013-04-02 2013-04-02 106479264 ENSG00000264192 uc061hac.1 NG_044163 HGNC:46133 +HGNC:46134 RN7SL118P RNA, 7SL, cytoplasmic 118, pseudogene pseudogene pseudogene Approved Xq24 Xq24 2013-04-02 2013-04-02 106480952 ENSG00000266420 uc065awa.1 NG_045426 HGNC:46134 +HGNC:46136 RN7SL120P RNA, 7SL, cytoplasmic 120, pseudogene pseudogene pseudogene Approved 3p26.3 03p26.3 2013-04-02 2013-04-02 106480953 ENSG00000244169 uc062gbe.1 NG_043384 HGNC:46136 +HGNC:46137 RN7SL121P RNA, 7SL, cytoplasmic 121, pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 2013-04-02 2013-04-02 106479265 ENSG00000263974 uc060rli.1 NG_045744 HGNC:46137 +HGNC:46138 RN7SL122P RNA, 7SL, cytoplasmic 122, pseudogene pseudogene pseudogene Approved 1p35.1 01p35.1 2013-04-02 2013-04-02 106480954 ENSG00000263529 uc057ekz.1 NG_045432 HGNC:46138 +HGNC:46139 RN7SL123P RNA, 7SL, cytoplasmic 123, pseudogene pseudogene pseudogene Approved 9p24.1 09p24.1 2013-04-02 2013-04-02 106479266 ENSG00000266863 uc064sbj.1 NG_044180 HGNC:46139 +HGNC:46140 RN7SL124P RNA, 7SL, cytoplasmic 124, pseudogene pseudogene pseudogene Approved 2q23.3 02q23.3 2013-04-02 2013-04-02 106480955 ENSG00000242113 uc061opc.1 NG_045437 HGNC:46140 +HGNC:46141 RN7SL125P RNA, 7SL, cytoplasmic 125, pseudogene pseudogene pseudogene Approved 17q21.32 17q21.32 2013-04-02 2013-04-02 106479267 ENSG00000244514 uc060gxe.1 NG_045749 HGNC:46141 +HGNC:46142 RN7SL126P RNA, 7SL, cytoplasmic 126, pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 2013-04-02 2015-01-29 106479268 ENSG00000276281 uc061lhp.1 NG_045143 HGNC:46142 +HGNC:46143 RN7SL127P RNA, 7SL, cytoplasmic 127, pseudogene pseudogene pseudogene Approved 4q21.21 04q21.21 2013-04-02 2013-04-02 106480956 ENSG00000242175 uc062xpo.1 NG_045047 HGNC:46143 +HGNC:46144 RN7SL128P RNA, 7SL, cytoplasmic 128, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-04-02 2013-04-02 106481826 ENSG00000240869 uc063mcl.1 NG_029591 HGNC:46144 +HGNC:46146 RN7SL130P RNA, 7SL, cytoplasmic 130, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-04-02 2013-04-02 106479269 ENSG00000244256 uc057hfp.1 NG_016966 HGNC:46146 +HGNC:46147 RN7SL131P RNA, 7SL, cytoplasmic 131, pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 2013-04-02 2013-04-02 106480957 ENSG00000264592 uc057euc.1 NG_043418 HGNC:46147 +HGNC:46148 RN7SL132P RNA, 7SL, cytoplasmic 132, pseudogene pseudogene pseudogene Approved 7p14.3 07p14.3 2013-04-02 2013-04-02 106479270 ENSG00000242653 uc064csz.1 NG_045763 HGNC:46148 +HGNC:46150 RN7SL134P RNA, 7SL, cytoplasmic 134, pseudogene pseudogene pseudogene Approved 16q23.3 16q23.3 2013-04-02 2013-04-02 106479271 ENSG00000263360 uc059xrt.1 NG_052819 HGNC:46150 +HGNC:46151 RN7SL135P RNA, 7SL, cytoplasmic 135, pseudogene pseudogene pseudogene Approved 8q12.3 08q12.3 2013-04-02 2013-04-02 106480958 ENSG00000241964 uc064ngq.1 NG_043427 HGNC:46151 +HGNC:46154 RN7SL138P RNA, 7SL, cytoplasmic 138, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-04-02 2013-04-02 106480489 ENSG00000266274 uc060dpu.1 NG_043756 HGNC:46154 +HGNC:46156 RN7SL140P RNA, 7SL, cytoplasmic 140, pseudogene pseudogene pseudogene Approved 2p24.1 02p24.1 2013-04-02 2013-04-02 106479272 ENSG00000266059 uc061gyi.1 NG_044222 HGNC:46156 +HGNC:46157 RN7SL141P RNA, 7SL, cytoplasmic 141, pseudogene pseudogene pseudogene Approved 3q26.31 03q26.31 2013-04-02 2013-04-02 106480959 ENSG00000243398 uc062pzk.1 NG_045448 HGNC:46157 +HGNC:46159 RN7SL143P RNA, 7SL, cytoplasmic 143, pseudogene pseudogene pseudogene Approved 16q21 16q21 2013-04-02 2013-04-02 106479273 ENSG00000244003 uc059ver.1 NG_044229 HGNC:46159 +HGNC:46160 RN7SL144P RNA, 7SL, cytoplasmic 144, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 2013-04-02 2013-04-02 106480960 ENSG00000242559 uc064yqz.1 NG_045451 HGNC:46160 +HGNC:46161 RN7SL145P RNA, 7SL, cytoplasmic 145, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2013-04-02 2013-04-02 106481753 ENSG00000244357 uc062iyg.1 NG_045521 HGNC:46161 +HGNC:46162 RN7SL146P RNA, 7SL, cytoplasmic 146, pseudogene pseudogene pseudogene Approved 19p13.11 19p13.11 2013-04-02 2013-04-02 106481827 ENSG00000240106 uc060uzo.1 NG_031959 HGNC:46162 +HGNC:46163 RN7SL147P RNA, 7SL, cytoplasmic 147, pseudogene pseudogene pseudogene Approved 3p25.2 03p25.2 2013-04-02 2013-04-02 106479274 ENSG00000263988 uc062gur.1 NG_044236 HGNC:46163 +HGNC:46164 RN7SL148P RNA, 7SL, cytoplasmic 148, pseudogene pseudogene pseudogene Approved 1q44 01q44 2013-04-02 2013-04-02 106479275 ENSG00000244066 uc057qwd.1 NG_044244 HGNC:46164 +HGNC:46165 RN7SL149P RNA, 7SL, cytoplasmic 149, pseudogene pseudogene pseudogene Approved 8p11.21 08p11.21 2013-04-02 2013-04-02 106480961 ENSG00000241834 uc064mit.1 NG_012820 HGNC:46165 +HGNC:46166 RN7SL150P RNA, 7SL, cytoplasmic 150, pseudogene pseudogene pseudogene Approved 19q13.11 19q13.11 2013-04-02 2013-04-02 106479276 ENSG00000240626 uc060wut.1 NG_044254 HGNC:46166 +HGNC:46167 RN7SL151P RNA, 7SL, cytoplasmic 151, pseudogene pseudogene pseudogene Approved 9p21.3 09p21.3 2013-04-02 2013-04-02 107075319 ENSG00000244230 uc064sjn.1 NG_070716 +HGNC:46168 RN7SL152P RNA, 7SL, cytoplasmic 152, pseudogene pseudogene pseudogene Approved 4q31.1 04q31.1 2013-04-02 2013-04-02 106480962 ENSG00000242102 uc062zuh.1 NG_045053 HGNC:46168 +HGNC:46169 RN7SL153P RNA, 7SL, cytoplasmic 153, pseudogene pseudogene pseudogene Approved 5q13.2 05q13.2 2013-04-02 2013-04-02 106480490 ENSG00000244748 uc063eks.1 NG_045569 HGNC:46169 +HGNC:46170 RN7SL154P RNA, 7SL, cytoplasmic 154, pseudogene pseudogene pseudogene Approved 19q13.11 19q13.11 2013-04-02 2013-04-02 106479277 ENSG00000264317 uc060wwb.1 NG_044262 HGNC:46170 +HGNC:46171 RN7SL155P RNA, 7SL, cytoplasmic 155, pseudogene pseudogene pseudogene Approved 19p13.11 19p13.11 2013-04-02 2013-04-02 106479278 ENSG00000263490 uc060vtq.1 NG_044271 HGNC:46171 +HGNC:46172 RN7SL156P RNA, 7SL, cytoplasmic 156, pseudogene pseudogene pseudogene Approved 20q11.23 20q11.23 2013-04-02 2013-04-02 106480963 ENSG00000242509 uc061wum.1 NG_045458 HGNC:46172 +HGNC:46175 RN7SL159P RNA, 7SL, cytoplasmic 159, pseudogene pseudogene pseudogene Approved 9q34.11 09q34.11 2013-04-02 2013-04-02 106479279 ENSG00000242281 uc064wkt.1 NG_044280 HGNC:46175 +HGNC:46176 RN7SL160P RNA, 7SL, cytoplasmic 160, pseudogene pseudogene pseudogene Approved 2p13.3 02p13.3 2013-04-02 2013-04-02 106480964 ENSG00000241159 uc061kkk.1 NG_043472 HGNC:46176 +HGNC:46178 RN7SL162P RNA, 7SL, cytoplasmic 162, pseudogene pseudogene pseudogene Approved 22q12.1 22q12.1 2013-04-02 2013-04-02 106481828 ENSG00000266503 uc062cuc.1 NG_045757 HGNC:46178 +HGNC:46179 RN7SL163P RNA, 7SL, cytoplasmic 163, pseudogene pseudogene pseudogene Approved 21q21.1 21q21.1 2013-04-02 2013-04-02 106479280 ENSG00000266195 uc061zdz.1 NG_044289 HGNC:46179 +HGNC:46180 RN7SL164P RNA, 7SL, cytoplasmic 164, pseudogene pseudogene pseudogene Approved 13q32.1 13q32.1 2013-04-02 2013-04-02 106480965 ENSG00000242614 uc021rlo.2 NG_045466 HGNC:46180 +HGNC:46181 RN7SL165P RNA, 7SL, cytoplasmic 165, pseudogene pseudogene pseudogene Approved 1p36.11 01p36.11 2013-04-02 2013-04-02 106479281 ENSG00000241188 uc057dtn.1 NG_044298 HGNC:46181 +HGNC:46182 RN7SL166P RNA, 7SL, cytoplasmic 166, pseudogene pseudogene pseudogene Approved 13q12.11 13q12.11 2013-04-02 2015-02-06 106479282 ENSG00000275014 uc058vtd.1 NG_029751 HGNC:46182 +HGNC:46183 RN7SL167P RNA, 7SL, cytoplasmic 167, pseudogene pseudogene pseudogene Approved 11q25 11q25 2013-04-02 2013-04-02 106480966 ENSG00000242673 uc058jej.1 NG_043485 HGNC:46183 +HGNC:46184 RN7SL168P RNA, 7SL, cytoplasmic 168, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 2013-04-02 2013-04-02 106480491 ENSG00000244296 uc062blm.1 NG_009231 HGNC:46184 +HGNC:46185 RN7SL169P RNA, 7SL, cytoplasmic 169, pseudogene pseudogene pseudogene Approved 5q12.3 05q12.3 2013-04-02 2013-04-02 106480372 ENSG00000242547 uc063dyl.1 NG_046006 HGNC:46185 +HGNC:46186 RN7SL170P RNA, 7SL, cytoplasmic 170, pseudogene pseudogene pseudogene Approved 20q13.31 20q13.31 2013-04-02 2013-04-02 106479283 ENSG00000241821 uc061xxg.1 NG_044314 HGNC:46186 +HGNC:46188 RN7SL172P RNA, 7SL, cytoplasmic 172, pseudogene pseudogene pseudogene Approved 3q13.33 03q13.33 2013-04-02 2013-04-02 106480967 ENSG00000243544 uc062myk.1 NG_045471 HGNC:46188 +HGNC:46189 RN7SL173P RNA, 7SL, cytoplasmic 173, pseudogene pseudogene pseudogene Approved 6q25.3 06q25.3 2013-04-02 2013-04-02 106479284 ENSG00000243373 uc063sns.1 NG_045802 HGNC:46189 +HGNC:46190 RN7SL174P RNA, 7SL, cytoplasmic 174, pseudogene pseudogene pseudogene Approved 5q23.1 05q23.1 2013-04-02 2013-04-02 106479285 ENSG00000243333 uc063ghd.1 NG_044332 HGNC:46190 +HGNC:46192 RN7SL176P RNA, 7SL, cytoplasmic 176, pseudogene pseudogene pseudogene Approved 12q23.1 12q23.1 2013-04-02 2013-04-02 106480968 ENSG00000266610 uc058seo.1 NG_045474 HGNC:46192 +HGNC:46193 RN7SL177P RNA, 7SL, cytoplasmic 177, pseudogene pseudogene pseudogene Approved 5q33.2 05q33.2 2013-04-02 2013-04-02 106480969 ENSG00000242976 uc063ixl.1 NG_045476 HGNC:46193 +HGNC:46194 RN7SL178P RNA, 7SL, cytoplasmic 178, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 2013-04-02 2013-04-02 106479286 ENSG00000263616 uc064kce.1 NG_044340 HGNC:46194 +HGNC:46196 RN7SL180P RNA, 7SL, cytoplasmic 180, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-04-02 2013-04-02 106480970 ENSG00000242860 uc057hcu.1 NG_045479 HGNC:46196 +HGNC:46197 RN7SL181P RNA, 7SL, cytoplasmic 181, pseudogene pseudogene pseudogene Approved 9q33.2 09q33.2 2013-04-02 2013-04-02 106480492 ENSG00000243738 uc064vkt.1 NG_012872 HGNC:46197 +HGNC:46198 RN7SL182P RNA, 7SL, cytoplasmic 182, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2013-04-02 2013-04-02 106479287 ENSG00000241461 uc062jpy.1 NG_044350 HGNC:46198 +HGNC:46199 RN7SL183P RNA, 7SL, cytoplasmic 183, pseudogene pseudogene pseudogene Approved 6q15 06q15 2013-04-02 2013-04-02 106480971 ENSG00000240997 uc063pzz.1 NG_043525 HGNC:46199 +HGNC:46200 RN7SL184P RNA, 7SL, cytoplasmic 184, pseudogene pseudogene pseudogene Approved 4q26 04q26 2013-04-02 2013-04-02 106479288 ENSG00000239279 uc062zdw.1 NG_044360 HGNC:46200 +HGNC:46201 RN7SL185P RNA, 7SL, cytoplasmic 185, pseudogene pseudogene pseudogene Approved 15q13.3 15q13.3 2013-04-02 2015-02-06 106479289 ENSG00000275776 uc021sie.2 NG_045816 HGNC:46201 +HGNC:46202 RN7SL186P RNA, 7SL, cytoplasmic 186, pseudogene pseudogene pseudogene Approved 1p36.12 01p36.12 2013-04-02 2015-02-06 106480972 ENSG00000278124 uc057ddh.1 NG_045483 HGNC:46202 +HGNC:46203 RN7SL187P RNA, 7SL, cytoplasmic 187, pseudogene pseudogene pseudogene Approved 9q33.2 09q33.2 2013-04-02 2013-04-02 106481829 ENSG00000240299 uc022bmt.2 NG_044203 HGNC:46203 +HGNC:46204 RN7SL188P RNA, 7SL, cytoplasmic 188, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2013-04-02 2013-04-02 106479290 ENSG00000241943 uc021qeg.2 NG_044372 HGNC:46204 +HGNC:46205 RN7SL189P RNA, 7SL, cytoplasmic 189, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2013-04-02 2013-04-02 106480973 ENSG00000243817 uc058yvh.1 NG_043542 HGNC:46205 +HGNC:46206 RN7SL190P RNA, 7SL, cytoplasmic 190, pseudogene pseudogene pseudogene Approved Xq28 Xq28 2013-04-02 2013-04-02 106479291 ENSG00000264933 uc065azk.1 NG_044382 HGNC:46206 +HGNC:46207 RN7SL191P RNA, 7SL, cytoplasmic 191, pseudogene pseudogene pseudogene Approved Xq26.1 Xq26.1 2013-04-02 2013-04-02 106479292 ENSG00000241198 uc065bcx.1 NG_044392 HGNC:46207 +HGNC:46208 RN7SL192P RNA, 7SL, cytoplasmic 192, pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 2013-04-02 2015-02-06 106480974 ENSG00000276757 uc060tny.1 NG_011556 HGNC:46208 +HGNC:46209 RN7SL193P RNA, 7SL, cytoplasmic 193, pseudogene pseudogene pseudogene Approved 4p13 04p13 2013-04-02 2013-04-02 106480493 ENSG00000239679 uc062whm.1 NG_043786 HGNC:46209 +HGNC:46212 RN7SL196P RNA, 7SL, cytoplasmic 196, pseudogene pseudogene pseudogene Approved 15q13.2 15q13.2 2013-04-02 2015-02-11 106479293 ENSG00000274424 uc021shk.2 NG_045829 HGNC:46212 +HGNC:46213 RN7SL197P RNA, 7SL, cytoplasmic 197, pseudogene pseudogene pseudogene Approved 20q13.13 20q13.13 2013-04-02 2015-02-11 106480975 ENSG00000276031 uc061xqm.1 NG_043559 HGNC:46213 +HGNC:46214 RN7SL198P RNA, 7SL, cytoplasmic 198, pseudogene pseudogene pseudogene Approved 10p13 10p13 2013-04-02 2013-04-02 106479294 ENSG00000264036 uc057rta.1 NG_044408 HGNC:46214 +HGNC:46215 RN7SL199P RNA, 7SL, cytoplasmic 199, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-04-02 2013-04-02 106480693 ENSG00000265315 uc060gkx.1 NG_045415 HGNC:46215 +HGNC:46216 RN7SL200P RNA, 7SL, cytoplasmic 200, pseudogene pseudogene pseudogene Approved 6p21.31 06p21.31 2013-04-02 2013-04-02 106480976 ENSG00000265123 uc063oac.1 NG_045494 HGNC:46216 +HGNC:46217 RN7SL201P RNA, 7SL, cytoplasmic 201, pseudogene pseudogene pseudogene Approved 2p12 02p12 2013-04-02 2013-04-02 106481830 ENSG00000242118 uc061lds.1 NG_044213 HGNC:46217 +HGNC:46218 RN7SL202P RNA, 7SL, cytoplasmic 202, pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 2013-04-02 2013-04-02 106479295 ENSG00000266627 uc060rtd.1 NG_044416 HGNC:46218 +HGNC:46219 RN7SL203P RNA, 7SL, cytoplasmic 203, pseudogene pseudogene pseudogene Approved 8q13.3 08q13.3 2013-04-02 2015-02-11 106479296 ENSG00000275128 uc064nox.1 NG_044425 HGNC:46219 +HGNC:46220 RN7SL204P RNA, 7SL, cytoplasmic 204, pseudogene pseudogene pseudogene Approved 2q37.2 02q37.2 2013-04-02 2013-04-02 106480977 ENSG00000264676 uc061tyg.1 NG_045497 HGNC:46220 +HGNC:46221 RN7SL205P RNA, 7SL, cytoplasmic 205, pseudogene pseudogene pseudogene Approved 4q28.3 04q28.3 2013-04-02 2013-04-02 106479297 ENSG00000241392 uc062zoj.1 NG_044433 HGNC:46221 +HGNC:46224 RN7SL208P RNA, 7SL, cytoplasmic 208, pseudogene pseudogene pseudogene Approved 5q13.3 05q13.3 2013-04-02 2013-04-02 106480978 ENSG00000264391 uc063ese.1 NG_043586 HGNC:46224 +HGNC:46225 RN7SL209P RNA, 7SL, cytoplasmic 209, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 2013-04-02 2013-04-02 106480494 ENSG00000240927 uc059oam.1 NG_043794 HGNC:46225 +HGNC:46226 RN7SL210P RNA, 7SL, cytoplasmic 210, pseudogene pseudogene pseudogene Approved 2q11.1 02q11.1 2013-04-02 2015-02-11 106479298 ENSG00000275961 uc061luh.1 NG_044441 HGNC:46226 +HGNC:46227 RN7SL211P RNA, 7SL, cytoplasmic 211, pseudogene pseudogene pseudogene Approved 2p14 02p14 2013-04-02 2013-04-02 106479299 ENSG00000244534 uc061juf.1 NG_045848 HGNC:46227 +HGNC:46229 RN7SL213P RNA, 7SL, cytoplasmic 213, pseudogene pseudogene pseudogene Approved 14q24.1 14q24.1 2013-04-02 2013-04-02 106480979 ENSG00000239820 uc059crt.1 NG_011836 HGNC:46229 +HGNC:46230 RN7SL214P RNA, 7SL, cytoplasmic 214, pseudogene pseudogene pseudogene Approved 15q24.3 15q24.3 2013-04-02 2013-04-02 106479300 ENSG00000242066 uc059man.1 NG_045850 HGNC:46230 +HGNC:46231 RN7SL215P RNA, 7SL, cytoplasmic 215, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-04-02 2013-04-02 106480980 ENSG00000242201 uc062rol.1 NG_043602 HGNC:46231 +HGNC:46232 RN7SL216P RNA, 7SL, cytoplasmic 216, pseudogene pseudogene pseudogene Approved 3p24.2 03p24.2 2013-04-02 2013-04-02 106480495 ENSG00000244404 uc062hol.1 NG_029013 HGNC:46232 +HGNC:46233 RN7SL217P RNA, 7SL, cytoplasmic 217, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2013-04-02 2013-04-02 106479301 ENSG00000264706 uc062jyr.1 NG_045858 HGNC:46233 +HGNC:46234 RN7SL218P RNA, 7SL, cytoplasmic 218, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 2013-04-02 2013-04-02 106480981 ENSG00000244194 uc062xgu.1 NG_045072 HGNC:46234 +HGNC:46235 RN7SL219P RNA, 7SL, cytoplasmic 219, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 2013-04-02 2013-04-02 106479302 ENSG00000265386 uc059pey.1 NG_032989 HGNC:46235 +HGNC:46236 RN7SL220P RNA, 7SL, cytoplasmic 220, pseudogene pseudogene pseudogene Approved 10q21.3 10q21.3 2013-04-02 2013-04-02 106479303 ENSG00000266467 uc057tpt.1 NG_045864 HGNC:46236 +HGNC:46237 RN7SL221P RNA, 7SL, cytoplasmic 221, pseudogene pseudogene pseudogene Approved 6p25.1 06p25.1 2013-04-02 2013-04-02 106480982 ENSG00000239472 uc063lpt.1 NG_043616 HGNC:46237 +HGNC:46238 RN7SL222P RNA, 7SL, cytoplasmic 222, pseudogene pseudogene pseudogene Approved 11q22.1 11q22.1 2013-04-02 2013-04-02 106481831 ENSG00000242165 uc058gtl.1 NG_044220 HGNC:46238 +HGNC:46239 RN7SL223P RNA, 7SL, cytoplasmic 223, pseudogene pseudogene pseudogene Approved 11q21 11q21 2013-04-02 2013-04-02 106481754 ENSG00000240202 uc058gmm.1 NG_043646 HGNC:46239 +HGNC:46241 RN7SL225P RNA, 7SL, cytoplasmic 225, pseudogene pseudogene pseudogene Approved 11q14.2 11q14.2 2013-04-02 2013-04-02 106479304 ENSG00000239856 uc058gge.1 NG_046865 HGNC:46241 +HGNC:46244 RN7SL228P RNA, 7SL, cytoplasmic 228, pseudogene pseudogene pseudogene Approved 8q24.11 08q24.11 2013-04-02 2013-04-02 106480983 ENSG00000244033 uc064pse.1 NG_043623 HGNC:46244 +HGNC:46245 RN7SL229P RNA, 7SL, cytoplasmic 229, pseudogene pseudogene pseudogene Approved 3q26.33 03q26.33 2013-04-02 2013-04-02 106479305 ENSG00000242811 uc062qhm.1 NG_045869 HGNC:46245 +HGNC:46246 RN7SL230P RNA, 7SL, cytoplasmic 230, pseudogene pseudogene pseudogene Approved 1q25.2 01q25.2 2013-04-02 2013-04-02 106479306 ENSG00000264916 uc057nqw.1 NG_045872 HGNC:46246 +HGNC:46247 RN7SL231P RNA, 7SL, cytoplasmic 231, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 2013-04-02 2013-04-02 106480984 ENSG00000240803 uc060ump.1 NG_043630 HGNC:46247 +HGNC:46249 RN7SL233P RNA, 7SL, cytoplasmic 233, pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 2013-04-02 2013-04-02 106480985 ENSG00000242971 uc060nux.1 NG_033272 HGNC:46249 +HGNC:46250 RN7SL234P RNA, 7SL, cytoplasmic 234, pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 2013-04-02 2013-04-02 106479307 ENSG00000241391 uc063sdv.1 NG_044508 HGNC:46250 +HGNC:46252 RN7SL236P RNA, 7SL, cytoplasmic 236, pseudogene pseudogene pseudogene Approved 17q25.3 17q25.3 2013-04-02 2013-04-02 106480986 ENSG00000243870 uc060kug.1 NG_043643 HGNC:46252 +HGNC:46253 RN7SL237P RNA, 7SL, cytoplasmic 237, pseudogene pseudogene pseudogene Approved 20q11.23 20q11.23 2013-04-02 2013-04-02 106479308 ENSG00000264767 uc021wdk.2 NG_045877 HGNC:46253 +HGNC:46254 RN7SL238P RNA, 7SL, cytoplasmic 238, pseudogene pseudogene pseudogene Approved 15q13.1 15q13.1 2013-04-02 2015-02-11 106480987 ENSG00000276891 uc059gzc.1 NG_045526 HGNC:46254 +HGNC:46255 RN7SL239P RNA, 7SL, cytoplasmic 239, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 2013-04-02 2013-04-02 106479309 ENSG00000242999 uc058fkt.1 NG_044526 HGNC:46255 +HGNC:46256 RN7SL240P RNA, 7SL, cytoplasmic 240, pseudogene pseudogene pseudogene Approved 11p14.1 11p14.1 2013-04-02 2013-04-02 106479310 ENSG00000243505 uc057zzp.1 NG_044534 HGNC:46256 +HGNC:46257 RN7SL241P RNA, 7SL, cytoplasmic 241, pseudogene pseudogene pseudogene Approved 10p11.23 10p11.23 2013-04-02 2013-04-02 106480988 ENSG00000239625 uc057snk.1 NG_045529 HGNC:46257 +HGNC:46258 RN7SL242P RNA, 7SL, cytoplasmic 242, pseudogene pseudogene pseudogene Approved 1p31.1 01p31.1 2013-04-02 2013-04-02 106480496 ENSG00000244389 uc057hlj.1 NG_045585 HGNC:46258 +HGNC:46260 RN7SL244P RNA, 7SL, cytoplasmic 244, pseudogene pseudogene pseudogene Approved 6p12.1 06p12.1 2013-04-02 2013-04-02 106479311 ENSG00000242865 uc063pbl.1 NG_045886 HGNC:46260 +HGNC:46262 RN7SL246P RNA, 7SL, cytoplasmic 246, pseudogene pseudogene pseudogene Approved 12q12 12q12 2013-04-02 2013-04-02 106480989 ENSG00000265093 uc058myc.1 NG_045533 HGNC:46262 +HGNC:46264 RN7SL248P RNA, 7SL, cytoplasmic 248, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 RN7SL527P RNA, 7SL, cytoplasmic 527, pseudogene 2013-04-02 2015-02-11 106479312 ENSG00000274186 uc057tba.1 NG_044548 HGNC:46264 +HGNC:46266 RN7SL250P RNA, 7SL, cytoplasmic 250, pseudogene pseudogene pseudogene Approved 8q11.23 08q11.23 2013-04-02 2013-04-02 106479313 ENSG00000244107 uc064mwu.1 NG_044555 HGNC:46266 +HGNC:46267 RN7SL251P RNA, 7SL, cytoplasmic 251, pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 2013-04-02 2013-04-02 106480990 ENSG00000244399 uc061lgz.1 NG_045083 HGNC:46267 +HGNC:46268 RN7SL252P RNA, 7SL, cytoplasmic 252, pseudogene pseudogene pseudogene Approved 7q21.3 07q21.3 2013-04-02 2013-04-02 106481832 ENSG00000244318 uc064fpg.1 NG_045147 HGNC:46268 +HGNC:46269 RN7SL253P RNA, 7SL, cytoplasmic 253, pseudogene pseudogene pseudogene Approved 4q34.1 04q34.1 2013-04-02 2013-04-02 106479314 ENSG00000241652 uc063ayv.1 NG_045180 HGNC:46269 +HGNC:46270 RN7SL254P RNA, 7SL, cytoplasmic 254, pseudogene pseudogene pseudogene Approved 4q31.23 04q31.23 2013-04-02 2013-04-02 106480991 ENSG00000240014 uc021xsp.2 NG_045541 HGNC:46270 +HGNC:46271 RN7SL255P RNA, 7SL, cytoplasmic 255, pseudogene pseudogene pseudogene Approved 5q21.2 05q21.2 2013-04-02 2013-04-02 106479315 ENSG00000239808 uc063fvc.1 NG_044571 HGNC:46271 +HGNC:46274 RN7SL258P RNA, 7SL, cytoplasmic 258, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-04-02 2013-04-02 106480373 ENSG00000240589 uc021tyd.2 NG_041943 HGNC:46274 +HGNC:46275 RN7SL259P RNA, 7SL, cytoplasmic 259, pseudogene pseudogene pseudogene Approved 11q12.3 11q12.3 2013-04-02 2013-04-02 106480992 ENSG00000241082 uc058cqi.1 NG_043690 HGNC:46275 +HGNC:46276 RN7SL260P RNA, 7SL, cytoplasmic 260, pseudogene pseudogene pseudogene Approved 8q24.3 08q24.3 2013-04-02 2015-02-11 106480497 ENSG00000253602 uc064qui.1 NG_045587 HGNC:46276 +HGNC:46277 RN7SL261P RNA, 7SL, cytoplasmic 261, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 2013-04-02 2015-02-11 106479316 ENSG00000277762 uc057kfe.1 NG_044580 HGNC:46277 +HGNC:46278 RN7SL262P RNA, 7SL, cytoplasmic 262, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 2013-04-02 2013-04-02 106479317 ENSG00000265033 uc064zen.1 NG_044589 HGNC:46278 +HGNC:46279 RN7SL263P RNA, 7SL, cytoplasmic 263, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 2013-04-02 2013-04-02 106480993 ENSG00000240160 uc062cex.1 NG_009244 HGNC:46279 +HGNC:46281 RN7SL265P RNA, 7SL, cytoplasmic 265, pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 2013-04-02 2013-04-02 106479318 ENSG00000241709 uc064egw.1 NG_045183 HGNC:46281 +HGNC:46282 RN7SL266P RNA, 7SL, cytoplasmic 266, pseudogene pseudogene pseudogene Approved Xq23 Xq23 2013-04-02 2013-04-02 106480994 ENSG00000243011 uc065atx.1 NG_043703 HGNC:46282 +HGNC:46283 RN7SL267P RNA, 7SL, cytoplasmic 267, pseudogene pseudogene pseudogene Approved 2q32.1 02q32.1 2013-04-02 2013-04-02 106481833 ENSG00000242121 uc061qjv.1 NG_045148 HGNC:46283 +HGNC:46284 RN7SL268P RNA, 7SL, cytoplasmic 268, pseudogene pseudogene pseudogene Approved 22q11.23 22q11.23 2013-04-02 2013-04-02 106479319 ENSG00000244425 uc062chy.1 NG_044607 HGNC:46284 +HGNC:46285 RN7SL269P RNA, 7SL, cytoplasmic 269, pseudogene pseudogene pseudogene Approved 1q24.2 01q24.2 2013-04-02 2013-04-02 106479320 ENSG00000243051 uc057nfb.1 NG_012883 HGNC:46285 +HGNC:46286 RN7SL270P RNA, 7SL, cytoplasmic 270, pseudogene pseudogene pseudogene Approved 17q21.32 17q21.32 2013-04-02 2015-02-11 106480995 ENSG00000277198 uc060gme.1 NG_046319 HGNC:46286 +HGNC:46287 RN7SL271P RNA, 7SL, cytoplasmic 271, pseudogene pseudogene pseudogene Approved 3p13 03p13 2013-04-02 2013-04-02 106479321 ENSG00000239250 uc062lmk.1 NG_044624 HGNC:46287 +HGNC:46288 RN7SL272P RNA, 7SL, cytoplasmic 272, pseudogene pseudogene pseudogene Approved 13q12.2 13q12.2 2013-04-02 2013-04-02 106480996 ENSG00000242360 uc058wbz.1 NG_043717 HGNC:46288 +HGNC:46289 RN7SL273P RNA, 7SL, cytoplasmic 273, pseudogene pseudogene pseudogene Approved 6p21.2 06p21.2 2013-04-02 2013-04-02 106481834 ENSG00000239953 uc063oga.1 NG_045780 HGNC:46289 +HGNC:46290 RN7SL274P RNA, 7SL, cytoplasmic 274, pseudogene pseudogene pseudogene Approved 16p13.12 16p13.12 RN7SL694P RNA, 7SL, cytoplasmic 694, pseudogene 2013-04-02 2016-02-10 106479322 ENSG00000242430 uc059yyf.1 NG_045918 HGNC:46290 +HGNC:46291 RN7SL275P RNA, 7SL, cytoplasmic 275, pseudogene pseudogene pseudogene Approved 4q25 04q25 2013-04-02 2013-04-02 106480997 ENSG00000263940 uc062yzw.1 NG_045091 HGNC:46291 +HGNC:46293 RN7SL277P RNA, 7SL, cytoplasmic 277, pseudogene pseudogene pseudogene Approved 1p36.13 01p36.13 2013-04-02 2013-04-02 106479323 ENSG00000240490 uc021ohs.2 NG_044639 HGNC:46293 +HGNC:46294 RN7SL278P RNA, 7SL, cytoplasmic 278, pseudogene pseudogene pseudogene Approved 15q24.3 15q24.3 2013-04-02 2013-04-02 106479324 ENSG00000243365 uc059lxu.1 NG_044645 HGNC:46294 +HGNC:46295 RN7SL279P RNA, 7SL, cytoplasmic 279, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 2013-04-02 2013-04-02 106480998 ENSG00000265648 uc059woo.1 NG_043734 HGNC:46295 +HGNC:46296 RN7SL280P RNA, 7SL, cytoplasmic 280, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 2013-04-02 2013-04-02 106480498 ENSG00000244671 uc062bzz.1 NG_045590 HGNC:46296 +HGNC:46298 RN7SL282P RNA, 7SL, cytoplasmic 282, pseudogene pseudogene pseudogene Approved 18p11.31 18p11.31 2013-04-02 2013-04-02 106480374 ENSG00000243591 uc060ncf.1 NG_044866 HGNC:46298 +HGNC:46299 RN7SL283P RNA, 7SL, cytoplasmic 283, pseudogene pseudogene pseudogene Approved 2q22.1 02q22.1 2013-04-02 2013-04-02 106479325 ENSG00000240977 uc061odm.1 NG_044652 HGNC:46299 +HGNC:46300 RN7SL284P RNA, 7SL, cytoplasmic 284, pseudogene pseudogene pseudogene Approved 10q22.3 10q22.3 2013-04-02 2013-04-02 106480999 ENSG00000243446 uc057ujt.1 NG_045558 HGNC:46300 +HGNC:46301 RN7SL285P RNA, 7SL, cytoplasmic 285, pseudogene pseudogene pseudogene Approved 6p21.2 06p21.2 2013-04-02 2013-04-02 106479326 ENSG00000243313 uc063ogw.1 NG_044659 HGNC:46301 +HGNC:46302 RN7SL286P RNA, 7SL, cytoplasmic 286, pseudogene pseudogene pseudogene Approved 15q13.3 15q13.3 2013-04-02 2015-02-11 106479327 ENSG00000277464 uc059heh.1 NG_045938 HGNC:46302 +HGNC:46304 RN7SL288P RNA, 7SL, cytoplasmic 288, pseudogene pseudogene pseudogene Approved 13q14.13 13q14.13 2013-04-02 2013-04-02 106481000 ENSG00000240767 uc058wwk.1 NG_045562 HGNC:46304 +HGNC:46306 RN7SL290P RNA, 7SL, cytoplasmic 290, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2013-04-02 2013-04-02 106481001 ENSG00000264613 uc057gne.1 NG_043758 HGNC:46306 +HGNC:46307 RN7SL291P RNA, 7SL, cytoplasmic 291, pseudogene pseudogene pseudogene Approved Xp11.3 Xp11.3 2013-04-02 2013-04-02 106479328 ENSG00000242065 uc064yrt.1 NG_044671 HGNC:46307 +HGNC:46308 RN7SL292P RNA, 7SL, cytoplasmic 292, pseudogene pseudogene pseudogene Approved 7p12.1 07p12.1 2013-04-02 2013-04-02 106481002 ENSG00000242650 uc064drm.1 NG_043763 HGNC:46308 +HGNC:46309 RN7SL293P RNA, 7SL, cytoplasmic 293, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 2013-04-02 2013-04-02 106481835 ENSG00000242483 uc064kft.1 NG_044253 HGNC:46309 +HGNC:46310 RN7SL294P RNA, 7SL, cytoplasmic 294, pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 2013-04-02 2013-04-02 106479329 ENSG00000242638 uc062lov.1 NG_044680 HGNC:46310 +HGNC:46312 RN7SL296P RNA, 7SL, cytoplasmic 296, pseudogene pseudogene pseudogene Approved 3p22.3 03p22.3 2013-04-02 2015-02-11 106481003 ENSG00000275090 uc062hwp.1 NG_043770 HGNC:46312 +HGNC:46313 RN7SL297P RNA, 7SL, cytoplasmic 297, pseudogene pseudogene pseudogene Approved 2q13 02q13 2013-04-02 2013-04-02 106479330 ENSG00000240183 uc021vmv.2 NG_045951 HGNC:46313 +HGNC:46315 RN7SL299P RNA, 7SL, cytoplasmic 299, pseudogene pseudogene pseudogene Approved 1q42.2 01q42.2 2013-04-02 2013-04-02 106479331 ENSG00000242794 uc057qjx.1 NG_044699 HGNC:46315 +HGNC:46316 RN7SL300P RNA, 7SL, cytoplasmic 300, pseudogene pseudogene pseudogene Approved 3q25.2 03q25.2 2013-04-02 2013-04-02 106481004 ENSG00000265813 uc062pde.1 NG_043779 HGNC:46316 +HGNC:46317 RN7SL301P RNA, 7SL, cytoplasmic 301, pseudogene pseudogene pseudogene Approved 17q12 17q12 2013-04-02 2015-02-11 106480499 ENSG00000276014 uc060mpr.1 NG_043835 HGNC:46317 +HGNC:46318 RN7SL302P RNA, 7SL, cytoplasmic 302, pseudogene pseudogene pseudogene Approved 9q33.3 09q33.3 2013-04-02 2013-04-02 106479332 ENSG00000241246 uc064vqg.1 NG_044709 HGNC:46318 +HGNC:46319 RN7SL303P RNA, 7SL, cytoplasmic 303, pseudogene pseudogene pseudogene Approved 8p21.3 08p21.3 2013-04-02 2013-04-02 106481005 ENSG00000240116 uc064lcv.1 NG_043788 HGNC:46319 +HGNC:46320 RN7SL304P RNA, 7SL, cytoplasmic 304, pseudogene pseudogene pseudogene Approved 1p36.13 01p36.13 2013-04-02 2013-04-02 106479333 ENSG00000242688 uc057cxy.1 NG_044717 HGNC:46320 +HGNC:46321 RN7SL305P RNA, 7SL, cytoplasmic 305, pseudogene pseudogene pseudogene Approved 22q12.3 22q12.3 2013-04-02 2013-04-02 106479334 ENSG00000240647 uc062dmi.1 NG_044726 HGNC:46321 +HGNC:46322 RN7SL306P RNA, 7SL, cytoplasmic 306, pseudogene pseudogene pseudogene Approved 7q32.1 07q32.1 2013-04-02 2013-04-02 106481006 ENSG00000242241 uc064hwp.1 NG_023428 HGNC:46322 +HGNC:46323 RN7SL307P RNA, 7SL, cytoplasmic 307, pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 2013-04-02 2013-04-02 106480500 ENSG00000243338 uc059jar.1 NG_043844 HGNC:46323 +HGNC:46324 RN7SL308P RNA, 7SL, cytoplasmic 308, pseudogene pseudogene pseudogene Approved 8q21.13 08q21.13 2013-04-02 2013-04-02 106479335 ENSG00000243951 uc064nyu.1 NG_045963 HGNC:46324 +HGNC:46325 RN7SL309P RNA, 7SL, cytoplasmic 309, pseudogene pseudogene pseudogene Approved 11q13.1 11q13.1 2013-04-02 2013-04-02 106481007 ENSG00000239356 uc058dof.1 NG_043803 HGNC:46325 +HGNC:46326 RN7SL310P RNA, 7SL, cytoplasmic 310, pseudogene pseudogene pseudogene Approved 18q21.1 18q21.1 2013-04-02 2013-04-02 106479336 ENSG00000240663 uc060pcz.1 NG_044743 HGNC:46326 +HGNC:46327 RN7SL311P RNA, 7SL, cytoplasmic 311, pseudogene pseudogene pseudogene Approved 4q31.1 04q31.1 2013-04-02 2013-04-02 106481755 ENSG00000265892 uc021xry.1 NG_043654 HGNC:46327 +HGNC:46329 RN7SL313P RNA, 7SL, cytoplasmic 313, pseudogene pseudogene pseudogene Approved 2q11.2 02q11.2 2013-04-02 2015-02-11 106481008 ENSG00000275655 uc061lyj.1 NG_045097 HGNC:46329 +HGNC:46330 RN7SL314P RNA, 7SL, cytoplasmic 314, pseudogene pseudogene pseudogene Approved 10p11.21 10p11.21 2013-04-02 2013-04-02 106481836 ENSG00000244402 uc057sug.1 NG_044260 HGNC:46330 +HGNC:46332 RN7SL316P RNA, 7SL, cytoplasmic 316, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-04-02 2013-04-02 106479337 ENSG00000241631 uc060don.1 NG_044751 HGNC:46332 +HGNC:46333 RN7SL317P RNA, 7SL, cytoplasmic 317, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 2013-04-02 2013-04-02 106479338 ENSG00000242668 uc061cks.1 NG_044761 HGNC:46333 +HGNC:46334 RN7SL318P RNA, 7SL, cytoplasmic 318, pseudogene pseudogene pseudogene Approved 8p23.2 08p23.2 2013-04-02 2013-04-02 106481009 ENSG00000242079 uc064kaf.1 NG_043820 HGNC:46334 +HGNC:46335 RN7SL319P RNA, 7SL, cytoplasmic 319, pseudogene pseudogene pseudogene Approved 15q24.2 15q24.2 2013-04-02 2013-04-02 106479339 ENSG00000241807 uc059lus.1 NG_045974 HGNC:46335 +HGNC:46336 RN7SL320P RNA, 7SL, cytoplasmic 320, pseudogene pseudogene pseudogene Approved 13q14.3 13q14.3 2013-04-02 2013-04-02 106481010 ENSG00000243900 uc058xfc.1 NG_043829 HGNC:46336 +HGNC:46337 RN7SL321P RNA, 7SL, cytoplasmic 321, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2013-04-02 2015-02-11 106480501 ENSG00000277483 uc021wxm.2 NG_045601 HGNC:46337 +HGNC:46338 RN7SL322P RNA, 7SL, cytoplasmic 322, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 2013-04-02 2015-02-11 106479340 ENSG00000276588 uc061anb.1 NG_044777 HGNC:46338 +HGNC:46339 RN7SL323P RNA, 7SL, cytoplasmic 323, pseudogene pseudogene pseudogene Approved 8q12.1 08q12.1 2013-04-02 2013-04-02 106479341 ENSG00000241997 uc064myc.1 NG_044784 HGNC:46339 +HGNC:46341 RN7SL325P RNA, 7SL, cytoplasmic 325, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 2013-04-02 2013-04-02 106481011 ENSG00000239579 uc065biw.1 NG_043837 HGNC:46341 +HGNC:46342 RN7SL326P RNA, 7SL, cytoplasmic 326, pseudogene pseudogene pseudogene Approved 1p34.2 01p34.2 2013-04-02 2013-04-02 106479342 ENSG00000264582 uc057fgv.1 NG_008139 HGNC:46342 +HGNC:46343 RN7SL327P RNA, 7SL, cytoplasmic 327, pseudogene pseudogene pseudogene Approved 15q24.2 15q24.2 2013-04-02 2015-02-11 106481012 ENSG00000275992 uc059lpv.1 NG_045597 HGNC:46343 +HGNC:46344 RN7SL328P RNA, 7SL, cytoplasmic 328, pseudogene pseudogene pseudogene Approved 9q34.13 09q34.13 2013-04-02 2013-04-02 106481837 ENSG00000240853 uc064wrr.1 NG_050622 HGNC:46344 +HGNC:46345 RN7SL329P RNA, 7SL, cytoplasmic 329, pseudogene pseudogene pseudogene Approved 8q24.13 08q24.13 2013-04-02 2013-04-02 106479343 ENSG00000242170 uc022bax.2 NG_053069 HGNC:46345 +HGNC:46346 RN7SL330P RNA, 7SL, cytoplasmic 330, pseudogene pseudogene pseudogene Approved 12q22 12q22 2013-04-02 2013-04-02 106481013 ENSG00000244391 uc058ruw.1 NG_043850 HGNC:46346 +HGNC:46347 RN7SL331P RNA, 7SL, cytoplasmic 331, pseudogene pseudogene pseudogene Approved 15q25.2 15q25.2 2013-04-02 2015-02-11 106479344 ENSG00000278422 uc059mre.1 NG_045990 HGNC:46347 +HGNC:46348 RN7SL332P RNA, 7SL, cytoplasmic 332, pseudogene pseudogene pseudogene Approved 6p23 06p23 2013-04-02 2013-04-02 106479345 ENSG00000242989 uc063lzl.1 NG_044819 HGNC:46348 +HGNC:46349 RN7SL333P RNA, 7SL, cytoplasmic 333, pseudogene pseudogene pseudogene Approved 1q24.2 01q24.2 2013-04-02 2013-04-02 106481014 ENSG00000239494 uc021peo.1 NG_043855 HGNC:46349 +HGNC:46350 RN7SL334P RNA, 7SL, cytoplasmic 334, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-04-02 2013-04-02 106480502 ENSG00000244618 uc063mey.1 NG_051606 HGNC:46350 +HGNC:46351 RN7SL335P RNA, 7SL, cytoplasmic 335, pseudogene pseudogene pseudogene Approved 4q27 04q27 2013-04-02 2013-04-02 106480375 ENSG00000241037 uc021xrl.2 NG_044870 HGNC:46351 +HGNC:46352 RN7SL336P RNA, 7SL, cytoplasmic 336, pseudogene pseudogene pseudogene Approved 6q15 06q15 2013-04-02 2013-04-02 106479346 ENSG00000264017 uc063qap.1 NG_044827 HGNC:46352 +HGNC:46353 RN7SL337P RNA, 7SL, cytoplasmic 337, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 2013-04-02 2013-04-02 106481015 ENSG00000243488 uc060uqf.1 NG_045612 HGNC:46353 +HGNC:46354 RN7SL338P RNA, 7SL, cytoplasmic 338, pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 2013-04-02 2013-04-02 106479347 ENSG00000241568 uc022bgi.2 NG_044835 HGNC:46354 +HGNC:46355 RN7SL339P RNA, 7SL, cytoplasmic 339, pseudogene pseudogene pseudogene Approved 5q35.1 05q35.1 2013-04-02 2013-04-02 106479348 ENSG00000265740 uc063jpz.1 NG_044843 HGNC:46355 +HGNC:46356 RN7SL340P RNA, 7SL, cytoplasmic 340, pseudogene pseudogene pseudogene Approved 19q12 19q12 2013-04-02 2013-04-02 106481016 ENSG00000241604 uc060wny.1 NG_045102 HGNC:46356 +HGNC:46357 RN7SL341P RNA, 7SL, cytoplasmic 341, pseudogene pseudogene pseudogene Approved 2p14 02p14 2013-04-02 2015-02-11 106481017 ENSG00000275588 uc061juc.1 NG_043875 HGNC:46357 +HGNC:46358 RN7SL342P RNA, 7SL, cytoplasmic 342, pseudogene pseudogene pseudogene Approved 18q21.32 18q21.32 2013-04-02 2013-04-02 106479349 ENSG00000239398 uc060prv.1 NG_044852 HGNC:46358 +HGNC:46359 RN7SL343P RNA, 7SL, cytoplasmic 343, pseudogene pseudogene pseudogene Approved 9p11.2 09p11.2 2013-04-02 2015-02-11 106481018 ENSG00000273717 uc064thy.1 NG_045105 HGNC:46359 +HGNC:46360 RN7SL344P RNA, 7SL, cytoplasmic 344, pseudogene pseudogene pseudogene Approved 1q32.3 01q32.3 2013-04-02 2013-04-02 106480503 ENSG00000241395 uc057pek.1 NG_045610 HGNC:46360 +HGNC:46362 RN7SL346P RNA, 7SL, cytoplasmic 346, pseudogene pseudogene pseudogene Approved 15q26.1 15q26.1 2013-04-02 2013-04-02 106479350 ENSG00000240470 uc059ndm.1 NG_044862 HGNC:46362 +HGNC:46366 RN7SL350P RNA, 7SL, cytoplasmic 350, pseudogene pseudogene pseudogene Approved 8q22.2 08q22.2 2013-04-02 2013-04-02 106481019 ENSG00000243254 uc064oyq.1 NG_007098 HGNC:46366 +HGNC:46367 RN7SL351P RNA, 7SL, cytoplasmic 351, pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 2013-04-02 2013-04-02 106479351 ENSG00000240098 uc058ixy.1 NG_046016 HGNC:46367 +HGNC:46368 RN7SL352P RNA, 7SL, cytoplasmic 352, pseudogene pseudogene pseudogene Approved 6p25.3 06p25.3 2013-04-02 2013-04-02 106479352 ENSG00000243439 uc063ljs.1 NG_044875 HGNC:46368 +HGNC:46369 RN7SL353P RNA, 7SL, cytoplasmic 353, pseudogene pseudogene pseudogene Approved 6p21.33 06p21.33 RN7SL579P RNA, 7SL, cytoplasmic 579, pseudogene 2013-04-02 2016-04-01 106481020 ENSG00000263608 uc063mux.1 NG_043899 HGNC:46369 +HGNC:46370 RN7SL354P RNA, 7SL, cytoplasmic 354, pseudogene pseudogene pseudogene Approved 15q21.2 15q21.2 2013-04-02 2013-04-02 106481838 ENSG00000243027 uc059jel.1 NG_044278 HGNC:46370 +HGNC:46372 RN7SL356P RNA, 7SL, cytoplasmic 356, pseudogene pseudogene pseudogene Approved 14q24.3 14q24.3 2013-04-02 2013-04-02 106479353 ENSG00000266553 uc059drn.1 NG_044883 HGNC:46372 +HGNC:46373 RN7SL357P RNA, 7SL, cytoplasmic 357, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-04-02 2013-04-02 106481021 ENSG00000265894 uc062wvn.1 NG_043906 HGNC:46373 +HGNC:46375 RN7SL359P RNA, 7SL, cytoplasmic 359, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2013-04-02 2013-04-02 106479354 ENSG00000244384 uc021vyj.2 NG_051251 HGNC:46375 +HGNC:46377 RN7SL361P RNA, 7SL, cytoplasmic 361, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 2013-04-02 2013-04-02 106479355 ENSG00000242158 uc061jlc.1 NG_045205 HGNC:46377 +HGNC:46378 RN7SL362P RNA, 7SL, cytoplasmic 362, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 2013-04-02 2013-04-02 106481022 ENSG00000242707 uc060nrh.1 NG_045628 HGNC:46378 +HGNC:46379 RN7SL363P RNA, 7SL, cytoplasmic 363, pseudogene pseudogene pseudogene Approved 15q26.1 15q26.1 2013-04-02 2013-04-02 106480504 ENSG00000241869 uc059ngm.1 NG_043866 HGNC:46379 +HGNC:46380 RN7SL364P RNA, 7SL, cytoplasmic 364, pseudogene pseudogene pseudogene Approved 19q13.32 19q13.32 2013-04-02 2013-04-02 106479356 ENSG00000243560 uc061ahf.1 NG_046031 HGNC:46380 +HGNC:46382 RN7SL366P RNA, 7SL, cytoplasmic 366, pseudogene pseudogene pseudogene Approved 6q26 06q26 2013-04-02 2013-04-02 106481023 ENSG00000266128 uc063stw.1 NG_043916 HGNC:46382 +HGNC:46384 RN7SL368P RNA, 7SL, cytoplasmic 368, pseudogene pseudogene pseudogene Approved 19q13.31 19q13.31 2013-04-02 2013-04-02 106479357 ENSG00000239948 uc060znc.1 NG_046035 HGNC:46384 +HGNC:46385 RN7SL369P RNA, 7SL, cytoplasmic 369, pseudogene pseudogene pseudogene Approved 14q24.1 14q24.1 2013-04-02 2013-04-02 106480694 ENSG00000241542 uc059crm.1 NG_043362 HGNC:46385 +HGNC:46386 RN7SL370P RNA, 7SL, cytoplasmic 370, pseudogene pseudogene pseudogene Approved 1p31.1 01p31.1 2013-04-02 2013-04-02 106481024 ENSG00000243437 uc057htx.1 NG_043921 HGNC:46386 +HGNC:46387 RN7SL371P RNA, 7SL, cytoplasmic 371, pseudogene pseudogene pseudogene Approved 7q11.22 07q11.22 2013-04-02 2013-04-02 106481839 ENSG00000266210 uc057ecp.1 NG_044287 HGNC:46387 +HGNC:46388 RN7SL372P RNA, 7SL, cytoplasmic 372, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-04-02 2013-04-02 106479358 ENSG00000242565 uc057lcz.1 NG_044920 HGNC:46388 +HGNC:46391 RN7SL375P RNA, 7SL, cytoplasmic 375, pseudogene pseudogene pseudogene Approved 13q21.2 13q21.2 2013-04-02 2013-04-02 106479359 ENSG00000265745 uc058xil.1 NG_032693 HGNC:46391 +HGNC:46392 RN7SL376P RNA, 7SL, cytoplasmic 376, pseudogene pseudogene pseudogene Approved 15q15.1 15q15.1 2013-04-02 2013-04-02 106481025 ENSG00000265814 uc059htp.1 NG_043928 HGNC:46392 +HGNC:46393 RN7SL377P RNA, 7SL, cytoplasmic 377, pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 2013-04-02 2013-04-02 106479360 ENSG00000266569 uc064edk.1 NG_042901 HGNC:46393 +HGNC:46394 RN7SL378P RNA, 7SL, cytoplasmic 378, pseudogene pseudogene pseudogene Approved 5q14.1 05q14.1 2013-04-02 2013-04-02 106481026 ENSG00000265684 uc063far.1 NG_045644 HGNC:46394 +HGNC:46395 RN7SL379P RNA, 7SL, cytoplasmic 379, pseudogene pseudogene pseudogene Approved Xq21.33 Xq21.33 2013-04-02 2013-04-02 106480505 ENSG00000242998 uc065aey.1 NG_043874 HGNC:46395 +HGNC:46396 RN7SL380P RNA, 7SL, cytoplasmic 380, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 2013-04-02 2013-04-02 106479361 ENSG00000244532 uc058kku.1 NG_042908 HGNC:46396 +HGNC:46397 RN7SL381P RNA, 7SL, cytoplasmic 381, pseudogene pseudogene pseudogene Approved 16q24.1 16q24.1 2013-04-02 2013-04-02 106479362 ENSG00000263968 uc059xze.1 NG_045242 HGNC:46397 +HGNC:46398 RN7SL382P RNA, 7SL, cytoplasmic 382, pseudogene pseudogene pseudogene Approved 4q31.1 04q31.1 2013-04-02 2013-04-02 106481027 ENSG00000240723 uc062zrr.1 NG_043943 HGNC:46398 +HGNC:46399 RN7SL383P RNA, 7SL, cytoplasmic 383, pseudogene pseudogene pseudogene Approved 5p12 05p12 2013-04-02 2013-04-02 106479363 ENSG00000263556 uc063dkq.1 NG_042921 HGNC:46399 +HGNC:46400 RN7SL384P RNA, 7SL, cytoplasmic 384, pseudogene pseudogene pseudogene Approved 10q25.3 10q25.3 2013-04-02 2013-04-02 106481028 ENSG00000242912 uc057wcp.1 NG_043952 HGNC:46400 +HGNC:46401 RN7SL385P RNA, 7SL, cytoplasmic 385, pseudogene pseudogene pseudogene Approved 22q13.1 22q13.1 2013-04-02 2013-04-02 106481840 ENSG00000241333 uc062dzn.1 NG_045794 HGNC:46401 +HGNC:46402 RN7SL386P RNA, 7SL, cytoplasmic 386, pseudogene pseudogene pseudogene Approved 1p36.12 01p36.12 2013-04-02 2015-02-11 106479364 ENSG00000273610 uc057ddd.1 NG_045250 HGNC:46402 +HGNC:46403 RN7SL387P RNA, 7SL, cytoplasmic 387, pseudogene pseudogene pseudogene Approved 12q24.11 12q24.11 2013-04-02 2013-04-02 106481029 ENSG00000263537 uc058tfc.1 NG_030381 HGNC:46403 +HGNC:46404 RN7SL388P RNA, 7SL, cytoplasmic 388, pseudogene pseudogene pseudogene Approved Xq13.1 Xq13.1 2013-04-02 2013-04-02 106479365 ENSG00000239577 uc064zwr.1 NG_016328 HGNC:46404 +HGNC:46406 RN7SL390P RNA, 7SL, cytoplasmic 390, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 2013-04-02 2013-04-02 106479366 ENSG00000241785 uc058ovj.1 NG_045257 HGNC:46406 +HGNC:46407 RN7SL391P RNA, 7SL, cytoplasmic 391, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 2013-04-02 2013-04-02 106481030 ENSG00000265388 uc058kdh.1 NG_007506 HGNC:46407 +HGNC:46408 RN7SL392P RNA, 7SL, cytoplasmic 392, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-04-02 2013-04-02 106480506 ENSG00000242482 uc057hjz.1 NG_043882 HGNC:46408 +HGNC:46409 RN7SL393P RNA, 7SL, cytoplasmic 393, pseudogene pseudogene pseudogene Approved 2q24.1 02q24.1 2013-04-02 2013-04-02 106481756 ENSG00000243723 uc061oul.1 NG_045080 HGNC:46409 +HGNC:46410 RN7SL394P RNA, 7SL, cytoplasmic 394, pseudogene pseudogene pseudogene Approved 10q21.3 10q21.3 2013-04-02 2013-04-02 106479367 ENSG00000239942 uc057tpi.1 NG_045262 HGNC:46410 +HGNC:46411 RN7SL395P RNA, 7SL, cytoplasmic 395, pseudogene pseudogene pseudogene Approved 8q24.3 08q24.3 2013-04-02 2013-04-02 106481031 ENSG00000244307 uc064rps.1 NG_043972 HGNC:46411 +HGNC:46412 RN7SL396P RNA, 7SL, cytoplasmic 396, pseudogene pseudogene pseudogene Approved 8q24.12 08q24.12 2013-04-02 2013-04-02 106479368 ENSG00000244642 uc064puh.1 NG_042962 HGNC:46412 +HGNC:46413 RN7SL397P RNA, 7SL, cytoplasmic 397, pseudogene pseudogene pseudogene Approved 3q13.33 03q13.33 2013-04-02 2013-04-02 106479369 ENSG00000244139 uc062mwi.1 NG_042971 HGNC:46413 +HGNC:46414 RN7SL398P RNA, 7SL, cytoplasmic 398, pseudogene pseudogene pseudogene Approved 10p11.22 10p11.22 2013-04-02 2013-04-02 106481032 ENSG00000244356 uc021poy.2 NG_045666 HGNC:46414 +HGNC:46415 RN7SL399P RNA, 7SL, cytoplasmic 399, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 2013-04-02 2013-04-02 106479370 ENSG00000239542 uc060fct.1 NG_009090 HGNC:46415 +HGNC:46416 RN7SL400P RNA, 7SL, cytoplasmic 400, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-04-02 2013-04-02 106481033 ENSG00000243059 uc059gpv.1 NG_043987 HGNC:46416 +HGNC:46417 RN7SL401P RNA, 7SL, cytoplasmic 401, pseudogene pseudogene pseudogene Approved 18q22.3 18q22.3 2013-04-02 2013-04-02 106480507 ENSG00000241866 uc060qbc.1 NG_043889 HGNC:46417 +HGNC:46418 RN7SL402P RNA, 7SL, cytoplasmic 402, pseudogene pseudogene pseudogene Approved 19q13.12 19q13.12 2013-04-02 2013-04-02 106479371 ENSG00000243968 uc060xki.1 NG_045009 HGNC:46418 +HGNC:46419 RN7SL403P RNA, 7SL, cytoplasmic 403, pseudogene pseudogene pseudogene Approved 6p21.1 06p21.1 2013-04-02 2013-04-02 106481034 ENSG00000240625 uc063oou.1 NG_045676 HGNC:46419 +HGNC:46420 RN7SL404P RNA, 7SL, cytoplasmic 404, pseudogene pseudogene pseudogene Approved 17q24.1 17q24.1 2013-04-02 2013-04-02 106479372 ENSG00000264840 uc060iyf.1 NG_054749 HGNC:46420 +HGNC:46421 RN7SL405P RNA, 7SL, cytoplasmic 405, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-04-02 2013-04-02 106479373 ENSG00000264540 uc060gcz.1 NG_032674 HGNC:46421 +HGNC:46424 RN7SL408P RNA, 7SL, cytoplasmic 408, pseudogene pseudogene pseudogene Approved 6q23.2 06q23.2 2013-04-02 2013-04-02 106481841 ENSG00000266875 uc063rnh.1 NG_045796 HGNC:46424 +HGNC:46427 RN7SL411P RNA, 7SL, cytoplasmic 411, pseudogene pseudogene pseudogene Approved 3p22.1 03p22.1 2013-04-02 2013-04-02 106481035 ENSG00000265327 uc062iku.1 NG_045679 HGNC:46427 +HGNC:46429 RN7SL413P RNA, 7SL, cytoplasmic 413, pseudogene pseudogene pseudogene Approved 13q14.3 13q14.3 2013-04-02 2013-04-02 106479374 ENSG00000242893 uc058xfj.1 NG_043014 HGNC:46429 +HGNC:46430 RN7SL414P RNA, 7SL, cytoplasmic 414, pseudogene pseudogene pseudogene Approved 2p21 02p21 2013-04-02 2013-04-02 106481036 ENSG00000239396 uc061iue.1 NG_045681 HGNC:46430 +HGNC:46431 RN7SL415P RNA, 7SL, cytoplasmic 415, pseudogene pseudogene pseudogene Approved 6q15 06q15 2013-04-02 2013-04-02 106479375 ENSG00000240961 uc063qdf.1 NG_043024 HGNC:46431 +HGNC:46432 RN7SL416P RNA, 7SL, cytoplasmic 416, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 2013-04-02 2013-04-02 106481037 ENSG00000242101 uc064gev.1 NG_045120 HGNC:46432 +HGNC:46433 RN7SL417P RNA, 7SL, cytoplasmic 417, pseudogene pseudogene pseudogene Approved 15q25.2 15q25.2 2013-04-02 2013-04-02 107080636 ENSG00000244056 uc059mrk.1 NG_046397 HGNC:46433 +HGNC:46434 RN7SL418P RNA, 7SL, cytoplasmic 418, pseudogene pseudogene pseudogene Approved 3p13 03p13 2013-04-02 2013-04-02 106480508 ENSG00000241665 uc021xak.2 NG_011631 HGNC:46434 +HGNC:46435 RN7SL419P RNA, 7SL, cytoplasmic 419, pseudogene pseudogene pseudogene Approved 4q31.3 04q31.3 2013-04-02 2013-04-02 106479376 ENSG00000243883 uc063ahy.1 NG_043031 HGNC:46435 +HGNC:46436 RN7SL420P RNA, 7SL, cytoplasmic 420, pseudogene pseudogene pseudogene Approved 1p13.1 01p13.1 2013-04-02 2013-04-02 106479377 ENSG00000239984 uc057jrg.1 NG_043042 HGNC:46436 +HGNC:46438 RN7SL422P RNA, 7SL, cytoplasmic 422, pseudogene pseudogene pseudogene Approved 9p13.1 09p13.1 2013-04-02 2015-02-11 106481038 ENSG00000274852 uc022bhb.2 NG_044024 HGNC:46438 +HGNC:46439 RN7SL423P RNA, 7SL, cytoplasmic 423, pseudogene pseudogene pseudogene Approved 2q24.2 02q24.2 2013-04-02 2013-04-02 106479378 ENSG00000244372 uc061oxn.1 NG_043052 HGNC:46439 +HGNC:46440 RN7SL424P RNA, 7SL, cytoplasmic 424, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-04-02 2013-04-02 106480376 ENSG00000244034 uc062wrm.1 NG_044878 HGNC:46440 +HGNC:46441 RN7SL425P RNA, 7SL, cytoplasmic 425, pseudogene pseudogene pseudogene Approved 1q24.3 01q24.3 2013-04-02 2017-02-17 106481039 uc057nhi.1 NG_045687 HGNC:46441 +HGNC:46442 RN7SL426P RNA, 7SL, cytoplasmic 426, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-04-02 2013-04-02 106481842 ENSG00000263815 uc060csd.1 NG_044312 HGNC:46442 +HGNC:46444 RN7SL428P RNA, 7SL, cytoplasmic 428, pseudogene pseudogene pseudogene Approved 15q25.3 15q25.3 2013-04-02 2015-02-11 106479379 ENSG00000277582 uc059mub.1 NG_045296 HGNC:46444 +HGNC:46445 RN7SL429P RNA, 7SL, cytoplasmic 429, pseudogene pseudogene pseudogene Approved 15q24.1 15q24.1 2013-04-02 2015-02-11 106479380 ENSG00000278604 uc059lgj.1 NG_045301 HGNC:46445 +HGNC:46446 RN7SL430P RNA, 7SL, cytoplasmic 430, pseudogene pseudogene pseudogene Approved 9q32 09q32 2013-04-02 2013-04-02 106481040 ENSG00000243911 uc064vcf.1 NG_045691 HGNC:46446 +HGNC:46447 RN7SL431P RNA, 7SL, cytoplasmic 431, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-04-02 2013-04-02 106866913 ENSG00000264384 uc057lgf.1 NG_046324 HGNC:46447 +HGNC:46448 RN7SL432P RNA, 7SL, cytoplasmic 432, pseudogene pseudogene pseudogene Approved 1p13.2 01p13.2 2013-04-02 2013-04-02 106481041 ENSG00000242769 uc057jpy.1 NG_008012 HGNC:46448 +HGNC:46450 RN7SL434P RNA, 7SL, cytoplasmic 434, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-04-02 2013-04-02 106480509 ENSG00000241868 uc062sbl.1 NG_045624 HGNC:46450 +HGNC:46451 RN7SL435P RNA, 7SL, cytoplasmic 435, pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 2013-04-02 2013-04-02 106479381 ENSG00000263944 uc058brk.1 NG_045306 HGNC:46451 +HGNC:46454 RN7SL438P RNA, 7SL, cytoplasmic 438, pseudogene pseudogene pseudogene Approved 15q23 15q23 2013-04-02 2017-02-17 106479382 uc059ksw.1 NG_043083 HGNC:46454 +HGNC:46456 RN7SL440P RNA, 7SL, cytoplasmic 440, pseudogene pseudogene pseudogene Approved 1p22.1 01p22.1 2013-04-02 2013-04-02 106481042 ENSG00000264963 uc057ili.1 NG_044057 HGNC:46456 +HGNC:46457 RN7SL441P RNA, 7SL, cytoplasmic 441, pseudogene pseudogene pseudogene Approved 12q24.11 12q24.11 2013-04-02 2013-04-02 106479383 ENSG00000241413 uc058tao.1 NG_045312 HGNC:46457 +HGNC:46458 RN7SL442P RNA, 7SL, cytoplasmic 442, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-04-02 2013-04-02 106481043 ENSG00000239221 uc060brc.1 NG_047111 HGNC:46458 +HGNC:46459 RN7SL443P RNA, 7SL, cytoplasmic 443, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 2013-04-02 2013-04-02 106480510 ENSG00000241229 uc061xee.1 NG_045627 HGNC:46459 +HGNC:46460 RN7SL444P RNA, 7SL, cytoplasmic 444, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-04-02 2013-04-02 106479384 ENSG00000265753 uc057kun.1 NG_045315 HGNC:46460 +HGNC:46461 RN7SL445P RNA, 7SL, cytoplasmic 445, pseudogene pseudogene pseudogene Approved 10p15.1 10p15.1 2013-04-02 2013-04-02 106481044 ENSG00000240577 uc057rjt.1 NG_044077 HGNC:46461 +HGNC:46462 RN7SL446P RNA, 7SL, cytoplasmic 446, pseudogene pseudogene pseudogene Approved 4q31.3 04q31.3 2013-04-02 2013-04-02 106479385 ENSG00000244544 uc063agl.1 NG_043111 HGNC:46462 +HGNC:46463 RN7SL447P RNA, 7SL, cytoplasmic 447, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-04-02 2013-04-02 106479386 ENSG00000243991 uc062rmy.1 NG_045321 HGNC:46463 +HGNC:46464 RN7SL448P RNA, 7SL, cytoplasmic 448, pseudogene pseudogene pseudogene Approved 17q23.2 17q23.2 2013-04-02 2013-04-02 106481843 ENSG00000264322 uc060iir.1 NG_045801 HGNC:46464 +HGNC:46465 RN7SL449P RNA, 7SL, cytoplasmic 449, pseudogene pseudogene pseudogene Approved 17q22 17q22 2013-04-02 2013-04-02 106481045 ENSG00000242889 uc060hvd.1 NG_045703 HGNC:46465 +HGNC:46467 RN7SL451P RNA, 7SL, cytoplasmic 451, pseudogene pseudogene pseudogene Approved 1p36.23 01p36.23 2013-04-02 2013-04-02 106480377 ENSG00000265141 uc057cab.1 NG_044886 HGNC:46467 +HGNC:46468 RN7SL452P RNA, 7SL, cytoplasmic 452, pseudogene pseudogene pseudogene Approved 14q22.1 14q22.1 2013-04-02 2013-04-02 106479387 ENSG00000243103 uc059bkb.1 NG_045326 HGNC:46468 +HGNC:46469 RN7SL453P RNA, 7SL, cytoplasmic 453, pseudogene pseudogene pseudogene Approved 10q11.22 10q11.22 2013-04-02 2015-02-11 106481046 ENSG00000276544 uc057tbz.1 NG_044092 HGNC:46469 +HGNC:46470 RN7SL454P RNA, 7SL, cytoplasmic 454, pseudogene pseudogene pseudogene Approved 17q25.3 17q25.3 2013-04-02 2013-04-02 106479388 ENSG00000243426 uc021uef.2 NG_045329 HGNC:46470 +HGNC:46471 RN7SL455P RNA, 7SL, cytoplasmic 455, pseudogene pseudogene pseudogene Approved 2q24.3 02q24.3 2013-04-02 2013-04-02 106479389 ENSG00000264047 uc061iry.1 NG_008247 HGNC:46471 +HGNC:46472 RN7SL456P RNA, 7SL, cytoplasmic 456, pseudogene pseudogene pseudogene Approved 7q35 07q35 2013-04-02 2013-04-02 106480511 ENSG00000242266 uc022aos.2 NG_045109 HGNC:46472 +HGNC:46473 RN7SL457P RNA, 7SL, cytoplasmic 457, pseudogene pseudogene pseudogene Approved 8p12 08p12 2013-04-02 2013-04-02 106481047 ENSG00000263794 uc022atv.2 NG_044103 HGNC:46473 +HGNC:46475 RN7SL459P RNA, 7SL, cytoplasmic 459, pseudogene pseudogene pseudogene Approved 12p12.3 12p12.3 2013-04-02 2013-04-02 106479390 ENSG00000240993 uc058lsk.1 NG_043152 HGNC:46475 +HGNC:46476 RN7SL460P RNA, 7SL, cytoplasmic 460, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-04-02 2013-04-02 106481048 ENSG00000263410 uc065abu.1 NG_016390 HGNC:46476 +HGNC:46477 RN7SL461P RNA, 7SL, cytoplasmic 461, pseudogene pseudogene pseudogene Approved 14q22.3 14q22.3 2013-04-02 2013-04-02 106481844 ENSG00000243801 uc059bvw.1 NG_045804 HGNC:46477 +HGNC:46478 RN7SL462P RNA, 7SL, cytoplasmic 462, pseudogene pseudogene pseudogene Approved 9p13.1 09p13.1 2013-04-02 2015-02-11 106479391 ENSG00000276522 uc064tja.1 NG_043159 HGNC:46478 +HGNC:46480 RN7SL464P RNA, 7SL, cytoplasmic 464, pseudogene pseudogene pseudogene Approved 1q41 01q41 2013-04-02 2013-04-02 106481049 ENSG00000243872 uc057pof.1 NG_044118 HGNC:46480 +HGNC:46481 RN7SL465P RNA, 7SL, cytoplasmic 465, pseudogene pseudogene pseudogene Approved 6p21.2 06p21.2 2013-04-02 2013-04-02 106479392 ENSG00000244297 uc063oho.1 NG_041805 HGNC:46481 +HGNC:46482 RN7SL466P RNA, 7SL, cytoplasmic 466, pseudogene pseudogene pseudogene Approved 1q23.3 01q23.3 2013-04-02 2013-04-02 106479393 ENSG00000241347 uc057mtw.1 NG_045351 HGNC:46482 +HGNC:46484 RN7SL468P RNA, 7SL, cytoplasmic 468, pseudogene pseudogene pseudogene Approved 2q14.2 02q14.2 2013-04-02 2013-04-02 106481050 ENSG00000264833 uc061nhx.1 NG_045133 HGNC:46484 +HGNC:46485 RN7SL469P RNA, 7SL, cytoplasmic 469, pseudogene pseudogene pseudogene Approved 15q13.2 15q13.2 2013-04-02 2015-02-11 106480512 ENSG00000277637 uc021shd.2 NG_045637 HGNC:46485 +HGNC:46486 RN7SL470P RNA, 7SL, cytoplasmic 470, pseudogene pseudogene pseudogene Approved 2p13.3 02p13.3 2013-04-02 2013-04-02 106479394 ENSG00000263669 uc061khc.1 NG_045028 HGNC:46486 +HGNC:46487 RN7SL471P RNA, 7SL, cytoplasmic 471, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 RN7SL257P RNA, 7SL, cytoplasmic 257, pseudogene 2013-04-02 2016-04-01 106481051 ENSG00000263426 uc063mmi.1 NG_044132 HGNC:46487 +HGNC:46488 RN7SL472P RNA, 7SL, cytoplasmic 472, pseudogene pseudogene pseudogene Approved 14q32.31 14q32.31 2013-04-02 2013-04-02 106479395 ENSG00000240457 uc059fkg.1 NG_043192 HGNC:46488 +HGNC:46489 RN7SL473P RNA, 7SL, cytoplasmic 473, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-04-02 2015-02-11 106479396 ENSG00000277452 uc057kpc.1 NG_045360 HGNC:46489 +HGNC:46490 RN7SL474P RNA, 7SL, cytoplasmic 474, pseudogene pseudogene pseudogene Approved 8p22 08p22 2013-04-02 2013-04-02 106481052 ENSG00000264092 uc064kmg.1 NG_044139 HGNC:46490 +HGNC:46491 RN7SL475P RNA, 7SL, cytoplasmic 475, pseudogene pseudogene pseudogene Approved 1p32.1 01p32.1 2013-04-02 2013-04-02 106481845 ENSG00000265535 uc057hba.1 NG_044338 HGNC:46491 +HGNC:46493 RN7SL477P RNA, 7SL, cytoplasmic 477, pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 2013-04-02 2013-04-02 106479397 ENSG00000239367 uc060rdl.1 NG_045364 HGNC:46493 +HGNC:46494 RN7SL478P RNA, 7SL, cytoplasmic 478, pseudogene pseudogene pseudogene Approved 7q21.3 07q21.3 2013-04-02 2015-02-11 106481053 ENSG00000277946 uc064fqk.1 NG_045137 HGNC:46494 +HGNC:46495 RN7SL479P RNA, 7SL, cytoplasmic 479, pseudogene pseudogene pseudogene Approved 1p34.1 01p34.1 2013-04-02 2013-04-02 106479398 ENSG00000239560 uc057fte.1 NG_043217 HGNC:46495 +HGNC:46496 RN7SL480P RNA, 7SL, cytoplasmic 480, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 2013-04-02 2013-04-02 106481757 ENSG00000266187 uc057kna.1 NG_043669 HGNC:46496 +HGNC:46497 RN7SL481P RNA, 7SL, cytoplasmic 481, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-04-02 2013-04-02 106481054 ENSG00000240322 uc064ivj.1 NG_045734 HGNC:46497 +HGNC:46498 RN7SL482P RNA, 7SL, cytoplasmic 482, pseudogene pseudogene pseudogene Approved 3p14.1 03p14.1 2013-04-02 2013-04-02 106480513 ENSG00000241587 uc062lhw.1 NG_045640 HGNC:46498 +HGNC:46499 RN7SL483P RNA, 7SL, cytoplasmic 483, pseudogene pseudogene pseudogene Approved 12q22 12q22 2013-04-02 2013-04-02 106479399 ENSG00000244091 uc058rve.1 NG_043228 HGNC:46499 +HGNC:46500 RN7SL484P RNA, 7SL, cytoplasmic 484, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 2013-04-02 2013-04-02 106479400 ENSG00000241588 uc059nvb.1 NG_045371 HGNC:46500 +HGNC:46503 RN7SL487P RNA, 7SL, cytoplasmic 487, pseudogene pseudogene pseudogene Approved 15q15.3 15q15.3 2013-04-02 2013-04-02 106481055 ENSG00000243871 uc059ijg.1 NG_042168 HGNC:46503 +HGNC:46504 RN7SL488P RNA, 7SL, cytoplasmic 488, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-04-02 2013-04-02 106479401 ENSG00000264271 uc057hfb.1 NG_043248 HGNC:46504 +HGNC:46505 RN7SL489P RNA, 7SL, cytoplasmic 489, pseudogene pseudogene pseudogene Approved 15q24.2 15q24.2 2013-04-02 2015-02-11 106481056 ENSG00000277295 uc059lpu.1 NG_045742 HGNC:46505 +HGNC:46507 RN7SL491P RNA, 7SL, cytoplasmic 491, pseudogene pseudogene pseudogene Approved 19q13.12 19q13.12 2013-04-02 2013-04-02 106480514 ENSG00000264400 uc060xct.1 NG_045111 HGNC:46507 +HGNC:46508 RN7SL492P RNA, 7SL, cytoplasmic 492, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-04-02 2013-04-02 106479402 ENSG00000240545 uc062wvl.1 NG_043258 HGNC:46508 +HGNC:46509 RN7SL493P RNA, 7SL, cytoplasmic 493, pseudogene pseudogene pseudogene Approved 16p13.2 16p13.2 2013-04-02 2013-04-02 106479403 ENSG00000266439 uc059qru.1 NG_043268 HGNC:46509 +HGNC:46510 RN7SL494P RNA, 7SL, cytoplasmic 494, pseudogene pseudogene pseudogene Approved 15q21.2 15q21.2 2013-04-02 2013-04-02 106481057 ENSG00000241175 uc021skv.2 NG_027487 HGNC:46510 +HGNC:46511 RN7SL495P RNA, 7SL, cytoplasmic 495, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-04-02 2015-02-11 106479404 ENSG00000277515 uc059grf.1 NG_043277 HGNC:46511 +HGNC:46512 RN7SL496P RNA, 7SL, cytoplasmic 496, pseudogene pseudogene pseudogene Approved 7p14.1 07p14.1 2013-04-02 2013-04-02 106481058 ENSG00000242855 uc064czz.1 NG_045140 HGNC:46512 +HGNC:46513 RN7SL497P RNA, 7SL, cytoplasmic 497, pseudogene pseudogene pseudogene Approved 15q15.1 15q15.1 2013-04-02 2013-04-02 106481846 ENSG00000240847 uc059hxc.1 NG_045808 HGNC:46513 +HGNC:46514 RN7SL498P RNA, 7SL, cytoplasmic 498, pseudogene pseudogene pseudogene Approved 20p12.3 20p12.3 2013-04-02 2013-04-02 106479405 ENSG00000263755 uc061vgz.1 NG_043287 HGNC:46514 +HGNC:46515 RN7SL499P RNA, 7SL, cytoplasmic 499, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2013-04-02 2013-04-02 106481059 ENSG00000239202 uc061tmz.1 NG_045141 HGNC:46515 +HGNC:46516 RN7SL500P RNA, 7SL, cytoplasmic 500, pseudogene pseudogene pseudogene Approved 22q13.33 22q13.33 2013-04-02 2017-02-17 106479406 uc062flt.1 NG_045387 HGNC:46516 +HGNC:46518 RN7SL502P RNA, 7SL, cytoplasmic 502, pseudogene pseudogene pseudogene Approved 6p21.31 06p21.31 2013-04-02 2013-04-02 106479407 ENSG00000240733 uc063oeg.1 NG_043301 HGNC:46518 +HGNC:46519 RN7SL503P RNA, 7SL, cytoplasmic 503, pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 2013-04-02 2013-04-02 106481060 ENSG00000240374 uc057ers.1 NG_044197 HGNC:46519 +HGNC:46520 RN7SL504P RNA, 7SL, cytoplasmic 504, pseudogene pseudogene pseudogene Approved 3p21.2 03p21.2 2013-04-02 2013-04-02 106480515 ENSG00000241789 uc062khz.1 NG_043942 HGNC:46520 +HGNC:46521 RN7SL505P RNA, 7SL, cytoplasmic 505, pseudogene pseudogene pseudogene Approved 7p14.3 07p14.3 2013-04-02 2013-04-02 106481758 ENSG00000241420 uc064crs.1 NG_045537 HGNC:46521 +HGNC:46523 RN7SL507P RNA, 7SL, cytoplasmic 507, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-04-02 2013-04-02 106479408 ENSG00000239702 uc060fym.1 NG_043310 HGNC:46523 +HGNC:46524 RN7SL508P RNA, 7SL, cytoplasmic 508, pseudogene pseudogene pseudogene Approved 12q24.23 12q24.23 2013-04-02 2013-04-02 106481061 ENSG00000244112 uc058twr.1 NG_045761 HGNC:46524 +HGNC:46525 RN7SL509P RNA, 7SL, cytoplasmic 509, pseudogene pseudogene pseudogene Approved 6q16.1 06q16.1 2013-04-02 2013-04-02 106479409 ENSG00000263479 uc063qec.1 NG_045211 HGNC:46525 +HGNC:46526 RN7SL510P RNA, 7SL, cytoplasmic 510, pseudogene pseudogene pseudogene Approved 15q24.2 15q24.2 2013-04-02 2013-04-02 106479410 ENSG00000266308 uc059luy.1 NG_045403 HGNC:46526 +HGNC:46529 RN7SL513P RNA, 7SL, cytoplasmic 513, pseudogene pseudogene pseudogene Approved 19p13.11 19p13.11 2013-04-02 2013-04-02 106481062 ENSG00000239821 uc060vpx.1 NG_044210 HGNC:46529 +HGNC:46531 RN7SL515P RNA, 7SL, cytoplasmic 515, pseudogene pseudogene pseudogene Approved 13q14.11 13q14.11 2013-04-02 2013-04-02 106481063 ENSG00000241406 uc058wqk.1 NG_044218 HGNC:46531 +HGNC:46532 RN7SL516P RNA, 7SL, cytoplasmic 516, pseudogene pseudogene pseudogene Approved 2p23.2 02p23.2 2013-04-02 2013-04-02 106479411 ENSG00000242699 uc061hun.1 NG_009445 HGNC:46532 +HGNC:46533 RN7SL517P RNA, 7SL, cytoplasmic 517, pseudogene pseudogene pseudogene Approved 3p22.1 03p22.1 2013-04-02 2013-04-02 106481064 ENSG00000241939 uc062itf.1 NG_045773 HGNC:46533 +HGNC:46534 RN7SL518P RNA, 7SL, cytoplasmic 518, pseudogene pseudogene pseudogene Approved 10q22.3 10q22.3 2013-04-02 2013-04-02 106481847 ENSG00000265486 uc057uhi.1 NG_044358 HGNC:46534 +HGNC:46535 RN7SL519P RNA, 7SL, cytoplasmic 519, pseudogene pseudogene pseudogene Approved 12q13.12 12q13.12 2013-04-02 2013-04-02 106479412 ENSG00000243075 uc058nyr.1 NG_043343 HGNC:46535 +HGNC:46536 RN7SL520P RNA, 7SL, cytoplasmic 520, pseudogene pseudogene pseudogene Approved 16q23.1 16q23.1 2013-04-02 2013-04-02 106481065 ENSG00000240199 uc059xhv.1 NG_051307 HGNC:46536 +HGNC:46537 RN7SL521P RNA, 7SL, cytoplasmic 521, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 2013-04-02 2013-04-02 106479413 ENSG00000240877 uc064izu.1 NG_045412 HGNC:46537 +HGNC:46539 RN7SL523P RNA, 7SL, cytoplasmic 523, pseudogene pseudogene pseudogene Approved 14q32.2 14q32.2 2013-04-02 2013-04-02 106479414 ENSG00000243976 uc059fdd.1 NG_043359 HGNC:46539 +HGNC:46540 RN7SL524P RNA, 7SL, cytoplasmic 524, pseudogene pseudogene pseudogene Approved 10q24.33 10q24.33 2013-04-02 2013-04-02 106481066 ENSG00000266754 uc057vts.1 NG_044240 HGNC:46540 +HGNC:46541 RN7SL525P RNA, 7SL, cytoplasmic 525, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 2013-04-02 2013-04-02 106480516 ENSG00000264910 uc061dtw.1 NG_046945 HGNC:46541 +HGNC:46542 RN7SL526P RNA, 7SL, cytoplasmic 526, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 2013-04-02 2013-04-02 106479415 ENSG00000243642 uc061dpi.1 NG_043368 HGNC:46542 +HGNC:46546 RN7SL530P RNA, 7SL, cytoplasmic 530, pseudogene pseudogene pseudogene Approved 14q24.3 14q24.3 2013-04-02 2013-04-02 106481067 ENSG00000239910 uc059dhd.1 NG_045781 HGNC:46546 +HGNC:46547 RN7SL531P RNA, 7SL, cytoplasmic 531, pseudogene pseudogene pseudogene Approved 2p25.3 02p25.3 2013-04-02 2013-04-02 106479416 ENSG00000264071 uc061ira.1 NG_045045 HGNC:46547 +HGNC:46551 RN7SL535P RNA, 7SL, cytoplasmic 535, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-04-02 2013-04-02 106479417 ENSG00000239419 uc064ivg.1 NG_045428 HGNC:46551 +HGNC:46552 RN7SL536P RNA, 7SL, cytoplasmic 536, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-04-02 2015-02-11 106481068 ENSG00000278222 uc059gso.1 NG_045783 HGNC:46552 +HGNC:46554 RN7SL538P RNA, 7SL, cytoplasmic 538, pseudogene pseudogene pseudogene Approved 1p31.1 01p31.1 2013-04-02 2013-04-02 106480517 ENSG00000240692 uc057hky.1 NG_045654 HGNC:46554 +HGNC:46555 RN7SL539P RNA, 7SL, cytoplasmic 539, pseudogene pseudogene pseudogene Approved 15q13.3 15q13.3 2013-04-02 2015-02-11 106479418 ENSG00000274076 uc021sih.2 NG_045431 HGNC:46555 +HGNC:46557 RN7SL541P RNA, 7SL, cytoplasmic 541, pseudogene pseudogene pseudogene Approved 5q31.1 05q31.1 2013-04-02 2013-04-02 106481069 ENSG00000240250 uc021ydq.2 NG_044267 HGNC:46557 +HGNC:46558 RN7SL542P RNA, 7SL, cytoplasmic 542, pseudogene pseudogene pseudogene Approved 7p15.3 07p15.3 2013-04-02 2013-04-02 106479419 ENSG00000243633 uc064bwc.1 NG_045433 HGNC:46558 +HGNC:46559 RN7SL543P RNA, 7SL, cytoplasmic 543, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 2013-04-02 2013-04-02 106480378 ENSG00000265918 uc059vnk.1 NG_044894 HGNC:46559 +HGNC:46560 RN7SL544P RNA, 7SL, cytoplasmic 544, pseudogene pseudogene pseudogene Approved 9p11.2 09p11.2 2013-04-02 2015-02-11 106481070 ENSG00000275230 uc064tju.1 NG_044275 HGNC:46560 +HGNC:46561 RN7SL545P RNA, 7SL, cytoplasmic 545, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-04-02 2015-02-11 106481848 ENSG00000274568 uc059grd.1 NG_045815 HGNC:46561 +HGNC:46562 RN7SL546P RNA, 7SL, cytoplasmic 546, pseudogene pseudogene pseudogene Approved 14q32.31 14q32.31 2013-04-02 2013-04-02 106479420 ENSG00000239224 uc059fnp.1 NG_043404 HGNC:46562 +HGNC:46563 RN7SL547P RNA, 7SL, cytoplasmic 547, pseudogene pseudogene pseudogene Approved 20p12.3 20p12.3 2013-04-02 2013-04-02 106479421 ENSG00000240584 uc061vhn.1 NG_043413 HGNC:46563 +HGNC:46565 RN7SL549P RNA, 7SL, cytoplasmic 549, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 2013-04-02 2013-04-02 106481071 ENSG00000239825 uc064gjn.1 NG_045151 HGNC:46565 +HGNC:46567 RN7SL551P RNA, 7SL, cytoplasmic 551, pseudogene pseudogene pseudogene Approved 18q22.3 18q22.3 2013-04-02 2013-04-02 106479422 ENSG00000243856 uc060qbw.1 NG_043422 HGNC:46567 +HGNC:46568 RN7SL552P RNA, 7SL, cytoplasmic 552, pseudogene pseudogene pseudogene Approved 4q21.23 04q21.23 2013-04-02 2013-04-02 106481072 ENSG00000239466 uc062xxf.1 NG_045793 HGNC:46568 +HGNC:46569 RN7SL553P RNA, 7SL, cytoplasmic 553, pseudogene pseudogene pseudogene Approved 3p26.1 03p26.1 2013-04-02 2013-04-02 106480518 ENSG00000241227 uc021wsn.2 NG_043964 HGNC:46569 +HGNC:46570 RN7SL554P RNA, 7SL, cytoplasmic 554, pseudogene pseudogene pseudogene Approved 6p25.1 06p25.1 2013-04-02 2013-04-02 106479423 ENSG00000240936 uc063lqk.1 NG_043430 HGNC:46570 +HGNC:46571 RN7SL555P RNA, 7SL, cytoplasmic 555, pseudogene pseudogene pseudogene Approved 20p13 20p13 2013-04-02 2013-04-02 106479424 ENSG00000263905 uc061vcx.1 NG_045450 HGNC:46571 +HGNC:46572 RN7SL556P RNA, 7SL, cytoplasmic 556, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 2013-04-02 2015-02-11 106481073 ENSG00000277265 uc064bfe.1 NG_045153 HGNC:46572 +HGNC:46573 RN7SL557P RNA, 7SL, cytoplasmic 557, pseudogene pseudogene pseudogene Approved 16p12.1 16p12.1 2013-04-02 2013-04-02 106479425 ENSG00000266166 uc059sho.1 NG_043445 HGNC:46573 +HGNC:46574 RN7SL558P RNA, 7SL, cytoplasmic 558, pseudogene pseudogene pseudogene Approved 4p14 04p14 2013-04-02 2013-04-02 106481074 ENSG00000243260 uc062wbx.1 NG_045799 HGNC:46574 +HGNC:46575 RN7SL559P RNA, 7SL, cytoplasmic 559, pseudogene pseudogene pseudogene Approved 1p35.3 01p35.3 2013-04-02 2013-04-02 106481849 ENSG00000240750 uc057dxq.1 NG_045820 HGNC:46575 +HGNC:46576 RN7SL560P RNA, 7SL, cytoplasmic 560, pseudogene pseudogene pseudogene Approved 9q34.11 09q34.11 2013-04-02 2013-04-02 106479426 ENSG00000264438 uc064wgl.1 NG_045454 HGNC:46576 +HGNC:46577 RN7SL561P RNA, 7SL, cytoplasmic 561, pseudogene pseudogene pseudogene Approved 20p13 20p13 2013-04-02 2013-04-02 106481075 ENSG00000242348 uc061uzu.1 NG_044320 HGNC:46577 +HGNC:46579 RN7SL563P RNA, 7SL, cytoplasmic 563, pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 2013-04-02 2013-04-02 106479427 ENSG00000239211 uc064pdz.1 NG_043460 HGNC:46579 +HGNC:46580 RN7SL564P RNA, 7SL, cytoplasmic 564, pseudogene pseudogene pseudogene Approved 6q22.31 06q22.31 2013-04-02 2013-04-02 106479428 ENSG00000240606 uc063rbe.1 NG_050619 HGNC:46580 +HGNC:46581 RN7SL565P RNA, 7SL, cytoplasmic 565, pseudogene pseudogene pseudogene Approved 9p11.2 09p11.2 2013-04-02 2015-02-11 106481076 ENSG00000276562 uc064thd.1 NG_044329 HGNC:46581 +HGNC:46582 RN7SL566P RNA, 7SL, cytoplasmic 566, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 2013-04-02 2013-04-02 106481850 ENSG00000241983 uc060yjv.1 NG_045822 HGNC:46582 +HGNC:46583 RN7SL567P RNA, 7SL, cytoplasmic 567, pseudogene pseudogene pseudogene Approved 3p22.1 03p22.1 2013-04-02 2013-04-02 106481976 ENSG00000240203 uc062iqy.1 NG_043378 HGNC:46583 +HGNC:46584 RN7SL568P RNA, 7SL, cytoplasmic 568, pseudogene pseudogene pseudogene Approved 15q21.3 15q21.3 2013-04-02 2013-04-02 106479429 ENSG00000239703 uc059jnf.1 NG_045463 HGNC:46584 +HGNC:46585 RN7SL569P RNA, 7SL, cytoplasmic 569, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 2013-04-02 2013-04-02 106481077 ENSG00000239468 uc064izl.1 NG_045156 HGNC:46585 +HGNC:46586 RN7SL570P RNA, 7SL, cytoplasmic 570, pseudogene pseudogene pseudogene Approved 9q21.12 09q21.12 2013-04-02 2013-04-02 106479430 ENSG00000241174 uc064tpz.1 NG_043480 HGNC:46586 +HGNC:46587 RN7SL571P RNA, 7SL, cytoplasmic 571, pseudogene pseudogene pseudogene Approved 13q22.2 13q22.2 2013-04-02 2013-04-02 106479431 ENSG00000243274 uc058xny.1 NG_043488 HGNC:46587 +HGNC:46589 RN7SL573P RNA, 7SL, cytoplasmic 573, pseudogene pseudogene pseudogene Approved 17q25.1 17q25.1 2013-04-02 2013-04-02 106481078 ENSG00000239607 uc021ucv.2 NG_044347 HGNC:46589 +HGNC:46590 RN7SL574P RNA, 7SL, cytoplasmic 574, pseudogene pseudogene pseudogene Approved 1p36.32 01p36.32 2013-04-02 2013-04-02 106481079 ENSG00000266075 uc057bqu.1 NG_044355 HGNC:46590 +HGNC:46591 RN7SL575P RNA, 7SL, cytoplasmic 575, pseudogene pseudogene pseudogene Approved 2q11.1 02q11.1 2013-04-02 2015-02-11 106479432 ENSG00000277591 uc061lsm.1 NG_045064 HGNC:46591 +HGNC:46593 RN7SL577P RNA, 7SL, cytoplasmic 577, pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 2013-04-02 2013-04-02 106481080 ENSG00000265942 uc021skr.2 NG_045813 HGNC:46593 +HGNC:46594 RN7SL578P RNA, 7SL, cytoplasmic 578, pseudogene pseudogene pseudogene Approved Xp22.33 Xp22.33 2013-04-02 2013-04-02 106479433 ENSG00000239228 uc064xvt.1 NG_043503 HGNC:46594 +HGNC:46596 RN7SL580P RNA, 7SL, cytoplasmic 580, pseudogene pseudogene pseudogene Approved 6p12.2 06p12.2 2013-04-02 2013-04-02 106481081 ENSG00000240641 uc063ozx.1 NG_008753 HGNC:46596 +HGNC:46597 RN7SL581P RNA, 7SL, cytoplasmic 581, pseudogene pseudogene pseudogene Approved Xq13.1 Xq13.1 2013-04-02 2013-04-02 106479434 ENSG00000242657 uc064zse.1 NG_043512 HGNC:46597 +HGNC:46598 RN7SL582P RNA, 7SL, cytoplasmic 582, pseudogene pseudogene pseudogene Approved 3q13.31 03q13.31 2013-04-02 2013-04-02 106479435 ENSG00000241156 uc021xcu.1 NG_043522 HGNC:46598 +HGNC:46599 RN7SL583P RNA, 7SL, cytoplasmic 583, pseudogene pseudogene pseudogene Approved 1p22.2 01p22.2 2013-04-02 2013-04-02 106481082 ENSG00000239504 uc021opm.2 NG_044378 HGNC:46599 +HGNC:46600 RN7SL584P RNA, 7SL, cytoplasmic 584, pseudogene pseudogene pseudogene Approved 15q11.1 15q11.1 2013-04-02 2013-04-02 106480519 ENSG00000239471 uc059gou.1 NG_043970 HGNC:46600 +HGNC:46601 RN7SL585P RNA, 7SL, cytoplasmic 585, pseudogene pseudogene pseudogene Approved 13q32.1 13q32.1 2013-04-02 2015-02-11 106479436 ENSG00000274168 uc058xtr.1 NG_043529 HGNC:46601 +HGNC:46602 RN7SL586P RNA, 7SL, cytoplasmic 586, pseudogene pseudogene pseudogene Approved 14q24.2 14q24.2 2013-04-02 2013-04-02 106481083 ENSG00000241487 uc059dao.1 NG_044388 HGNC:46602 +HGNC:46603 RN7SL587P RNA, 7SL, cytoplasmic 587, pseudogene pseudogene pseudogene Approved 14q24.3 14q24.3 2013-04-02 2013-04-02 106479437 ENSG00000240233 uc059dve.1 NG_028282 HGNC:46603 +HGNC:46605 RN7SL589P RNA, 7SL, cytoplasmic 589, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 2013-04-02 2013-04-02 106479438 ENSG00000239247 uc062upf.1 NG_045488 HGNC:46605 +HGNC:46607 RN7SL591P RNA, 7SL, cytoplasmic 591, pseudogene pseudogene pseudogene Approved 10q21.2 10q21.2 2013-04-02 2013-04-02 106481084 ENSG00000240940 uc057tne.1 NG_044397 HGNC:46607 +HGNC:46608 RN7SL592P RNA, 7SL, cytoplasmic 592, pseudogene pseudogene pseudogene Approved 9p24.2 09p24.2 2013-04-02 2013-04-02 106481851 ENSG00000264615 uc064rwo.1 NG_044390 HGNC:46608 +HGNC:46610 RN7SL594P RNA, 7SL, cytoplasmic 594, pseudogene pseudogene pseudogene Approved 20p11.1 20p11.1 2013-04-02 2013-04-02 106479439 ENSG00000242236 uc061vyl.1 NG_043554 HGNC:46610 +HGNC:46612 RN7SL596P RNA, 7SL, cytoplasmic 596, pseudogene pseudogene pseudogene Approved 11q13.1 11q13.1 2013-04-02 2013-04-02 106481085 ENSG00000264519 uc058cru.1 NG_044405 HGNC:46612 +HGNC:46613 RN7SL597P RNA, 7SL, cytoplasmic 597, pseudogene pseudogene pseudogene Approved 13q14.11 13q14.11 2013-04-02 2013-04-02 106479440 ENSG00000244264 uc058wpj.1 NG_043564 HGNC:46613 +HGNC:46614 RN7SL598P RNA, 7SL, cytoplasmic 598, pseudogene pseudogene pseudogene Approved 14q23.1 14q23.1 2013-04-02 2013-04-02 106481759 ENSG00000243700 uc059bxs.1 NG_043682 HGNC:46614 +HGNC:46616 RN7SL600P RNA, 7SL, cytoplasmic 600, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-04-02 2015-02-11 106481086 ENSG00000274963 uc057kpd.1 NG_045835 HGNC:46616 +HGNC:46617 RN7SL601P RNA, 7SL, cytoplasmic 601, pseudogene pseudogene pseudogene Approved 17p12 17p12 2013-04-02 2013-04-02 106480520 ENSG00000243346 uc060bhj.1 NG_043977 HGNC:46617 +HGNC:46618 RN7SL602P RNA, 7SL, cytoplasmic 602, pseudogene pseudogene pseudogene Approved 2p22.3 02p22.3 2013-04-02 2013-04-02 106479441 ENSG00000264352 uc061ibd.1 NG_043573 HGNC:46618 +HGNC:46620 RN7SL604P RNA, 7SL, cytoplasmic 604, pseudogene pseudogene pseudogene Approved 2p13.3 02p13.3 2013-04-02 2013-04-02 106479442 ENSG00000244236 uc061jzv.1 NG_045068 HGNC:46620 +HGNC:46621 RN7SL605P RNA, 7SL, cytoplasmic 605, pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 2013-04-02 2013-04-02 106481087 ENSG00000265566 uc058bmn.1 NG_044421 HGNC:46621 +HGNC:46622 RN7SL606P RNA, 7SL, cytoplasmic 606, pseudogene pseudogene pseudogene Approved 17q23.2 17q23.2 2013-04-02 2013-04-02 106479443 ENSG00000239932 uc060iih.1 NG_045499 HGNC:46622 +HGNC:46623 RN7SL607P RNA, 7SL, cytoplasmic 607, pseudogene pseudogene pseudogene Approved 20p11.23 20p11.23 2013-04-02 2015-02-11 106481088 ENSG00000278525 uc061vth.1 NG_044430 HGNC:46623 +HGNC:46624 RN7SL608P RNA, 7SL, cytoplasmic 608, pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 2013-04-02 2013-04-02 106480521 ENSG00000239884 uc059zod.1 NG_045668 HGNC:46624 +HGNC:46626 RN7SL610P RNA, 7SL, cytoplasmic 610, pseudogene pseudogene pseudogene Approved 2p23.3 02p23.3 2013-04-02 2013-04-02 106479444 ENSG00000243847 uc061hbf.1 NG_045069 HGNC:46626 +HGNC:46628 RN7SL612P RNA, 7SL, cytoplasmic 612, pseudogene pseudogene pseudogene Approved 1q23.1 01q23.1 2013-04-02 2013-04-02 106479445 ENSG00000266160 uc057mec.1 NG_045506 HGNC:46628 +HGNC:46630 RN7SL614P RNA, 7SL, cytoplasmic 614, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 2013-04-02 2013-04-02 106481089 ENSG00000243267 uc057cdf.1 NG_045842 HGNC:46630 +HGNC:46631 RN7SL615P RNA, 7SL, cytoplasmic 615, pseudogene pseudogene pseudogene Approved 20q12 20q12 2013-04-02 2013-04-02 106479446 ENSG00000263989 uc061xbk.1 NG_046923 HGNC:46631 +HGNC:46632 RN7SL616P RNA, 7SL, cytoplasmic 616, pseudogene pseudogene pseudogene Approved 5q13.2 05q13.2 2013-04-02 2013-04-02 106481090 ENSG00000266477 uc063egz.1 NG_044443 HGNC:46632 +HGNC:46633 RN7SL617P RNA, 7SL, cytoplasmic 617, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-04-02 2013-04-02 106481852 ENSG00000241162 uc063qpj.1 NG_045828 HGNC:46633 +HGNC:46634 RN7SL618P RNA, 7SL, cytoplasmic 618, pseudogene pseudogene pseudogene Approved 13q14.3 13q14.3 2013-04-02 2013-04-02 106479447 ENSG00000241613 uc021rka.2 NG_045511 HGNC:46634 +HGNC:46635 RN7SL619P RNA, 7SL, cytoplasmic 619, pseudogene pseudogene pseudogene Approved 19p13.13 19p13.13 2013-04-02 2013-04-02 106481091 ENSG00000266770 uc060ujs.1 NG_044453 HGNC:46635 +HGNC:46636 RN7SL620P RNA, 7SL, cytoplasmic 620, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-04-02 2015-02-11 106479448 ENSG00000276088 uc060bud.1 NG_045514 HGNC:46636 +HGNC:46637 RN7SL621P RNA, 7SL, cytoplasmic 621, pseudogene pseudogene pseudogene Approved 8p12 08p12 2013-04-02 2013-04-02 106479449 ENSG00000240189 uc064lvw.1 NG_043634 HGNC:46637 +HGNC:46638 RN7SL622P RNA, 7SL, cytoplasmic 622, pseudogene pseudogene pseudogene Approved 17q24.2 17q24.2 2013-04-02 2013-04-02 106481092 ENSG00000265052 uc060jct.1 NG_045854 HGNC:46638 +HGNC:46639 RN7SL623P RNA, 7SL, cytoplasmic 623, pseudogene pseudogene pseudogene Approved 5q35.1 05q35.1 2013-04-02 2013-04-02 106480522 ENSG00000244501 uc063jpl.1 NG_045674 HGNC:46639 +HGNC:46640 RN7SL624P RNA, 7SL, cytoplasmic 624, pseudogene pseudogene pseudogene Approved 17p13.3 17p13.3 2013-04-02 2013-04-02 106480379 ENSG00000265777 uc059zlu.1 NG_033980 HGNC:46640 +HGNC:46641 RN7SL625P RNA, 7SL, cytoplasmic 625, pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 2013-04-02 2015-02-11 106479450 ENSG00000274656 uc064edl.1 NG_043640 HGNC:46641 +HGNC:46643 RN7SL627P RNA, 7SL, cytoplasmic 627, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-04-02 2015-02-12 106481093 ENSG00000274747 uc060cgt.1 NG_044464 HGNC:46643 +HGNC:46644 RN7SL628P RNA, 7SL, cytoplasmic 628, pseudogene pseudogene pseudogene Approved 15q13.2 15q13.2 2013-04-02 2015-02-12 106479451 ENSG00000277467 uc059hbp.1 NG_045525 HGNC:46644 +HGNC:46645 RN7SL629P RNA, 7SL, cytoplasmic 629, pseudogene pseudogene pseudogene Approved 5q14.3 05q14.3 2013-04-02 2013-04-02 106479452 ENSG00000241243 uc063fdr.1 NG_043657 HGNC:46645 +HGNC:46646 RN7SL630P RNA, 7SL, cytoplasmic 630, pseudogene pseudogene pseudogene Approved 12q22 12q22 2013-04-02 2013-04-02 106481094 ENSG00000264978 uc058rtz.1 NG_045861 HGNC:46646 +HGNC:46648 RN7SL632P RNA, 7SL, cytoplasmic 632, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 2013-04-02 2013-04-02 106481095 ENSG00000241524 uc061jll.1 NG_045169 HGNC:46648 +HGNC:46649 RN7SL633P RNA, 7SL, cytoplasmic 633, pseudogene pseudogene pseudogene Approved 22q12.2 22q12.2 2013-04-02 2013-04-02 106479453 ENSG00000240186 uc062dgs.1 NG_045531 HGNC:46649 +HGNC:46650 RN7SL634P RNA, 7SL, cytoplasmic 634, pseudogene pseudogene pseudogene Approved 14q32.33 14q32.33 2013-04-02 2013-04-02 106481096 ENSG00000242894 uc059fvk.1 NG_045868 HGNC:46650 +HGNC:46651 RN7SL635P RNA, 7SL, cytoplasmic 635, pseudogene pseudogene pseudogene Approved 2p14 02p14 2013-04-02 2013-04-02 106479454 ENSG00000243029 uc061jvm.1 NG_043671 HGNC:46651 +HGNC:46652 RN7SL636P RNA, 7SL, cytoplasmic 636, pseudogene pseudogene pseudogene Approved 20q13.13 20q13.13 2013-04-02 2013-04-02 106481097 ENSG00000244376 uc061xsc.1 NG_044494 HGNC:46652 +HGNC:46654 RN7SL638P RNA, 7SL, cytoplasmic 638, pseudogene pseudogene pseudogene Approved 20p11.23 20p11.23 2013-04-02 2013-04-02 106479455 ENSG00000243702 uc061vqy.1 NG_045539 HGNC:46654 +HGNC:46656 RN7SL640P RNA, 7SL, cytoplasmic 640, pseudogene pseudogene pseudogene Approved 9p13.1 09p13.1 2013-04-02 2015-02-12 106479456 ENSG00000278825 uc064ter.1 NG_043685 HGNC:46656 +HGNC:46659 RN7SL643P RNA, 7SL, cytoplasmic 643, pseudogene pseudogene pseudogene Approved 6q14.3 06q14.3 2013-04-02 2013-04-02 106481098 ENSG00000243124 uc063pyg.1 NG_044504 HGNC:46659 +HGNC:46660 RN7SL644P RNA, 7SL, cytoplasmic 644, pseudogene pseudogene pseudogene Approved 10q23.33 10q23.33 2013-04-02 2013-04-02 106481853 ENSG00000264313 uc057uwh.1 NG_044406 HGNC:46660 +HGNC:46661 RN7SL645P RNA, 7SL, cytoplasmic 645, pseudogene pseudogene pseudogene Approved 16q21 16q21 2013-04-02 2013-04-02 106479457 ENSG00000240863 uc021tjg.2 NG_043694 HGNC:46661 +HGNC:46662 RN7SL646P RNA, 7SL, cytoplasmic 646, pseudogene pseudogene pseudogene Approved 5q35.3 05q35.3 2013-04-02 2013-04-02 106481099 ENSG00000242341 uc063kks.1 NG_044514 HGNC:46662 +HGNC:46663 RN7SL647P RNA, 7SL, cytoplasmic 647, pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 2013-04-02 2013-04-02 106479458 ENSG00000243957 uc062lqc.1 NG_043699 HGNC:46663 +HGNC:46664 RN7SL648P RNA, 7SL, cytoplasmic 648, pseudogene pseudogene pseudogene Approved Xq13.2 Xq13.2 2013-04-02 2013-04-02 106479459 ENSG00000265727 uc064zzk.1 NG_045548 HGNC:46664 +HGNC:46665 RN7SL649P RNA, 7SL, cytoplasmic 649, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 2013-04-02 2013-04-02 106481100 ENSG00000243539 uc057cjd.1 NG_044522 HGNC:46665 +HGNC:46666 RN7SL650P RNA, 7SL, cytoplasmic 650, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2013-04-02 2015-02-12 106480523 ENSG00000274475 uc058zcb.1 NG_021249 HGNC:46666 +HGNC:46668 RN7SL652P RNA, 7SL, cytoplasmic 652, pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 2013-04-02 2013-04-02 106479460 ENSG00000265559 uc058bfx.1 NG_043714 HGNC:46668 +HGNC:46669 RN7SL653P RNA, 7SL, cytoplasmic 653, pseudogene pseudogene pseudogene Approved 1p22.1 01p22.1 2013-04-02 2013-04-02 106481101 ENSG00000239794 uc021ops.2 NG_045880 HGNC:46669 +HGNC:46670 RN7SL654P RNA, 7SL, cytoplasmic 654, pseudogene pseudogene pseudogene Approved 1q25.3 01q25.3 2013-04-02 2013-04-02 106479461 ENSG00000244568 uc057nwu.1 NG_043722 HGNC:46670 +HGNC:46671 RN7SL655P RNA, 7SL, cytoplasmic 655, pseudogene pseudogene pseudogene Approved 5q33.2 05q33.2 2013-04-02 2013-04-02 106481102 ENSG00000241963 uc063iyu.1 NG_045884 HGNC:46671 +HGNC:46672 RN7SL656P RNA, 7SL, cytoplasmic 656, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-04-02 2013-04-02 106481760 ENSG00000265411 uc060gks.1 NG_045542 HGNC:46672 +HGNC:46673 RN7SL657P RNA, 7SL, cytoplasmic 657, pseudogene pseudogene pseudogene Approved 1p36.33 01p36.33 2013-04-02 2013-04-02 107074708 ENSG00000264293 uc057bfb.1 NG_046366 HGNC:46673 +HGNC:46674 RN7SL658P RNA, 7SL, cytoplasmic 658, pseudogene pseudogene pseudogene Approved Xp22.2 Xp22.2 2013-04-02 2013-04-02 106480524 ENSG00000239333 uc064ydu.1 NG_044006 HGNC:46674 +HGNC:46675 RN7SL659P RNA, 7SL, cytoplasmic 659, pseudogene pseudogene pseudogene Approved 9q31.2 09q31.2 2013-04-02 2013-04-02 106479462 ENSG00000244104 uc064uyw.1 NG_043731 HGNC:46675 +HGNC:46676 RN7SL660P RNA, 7SL, cytoplasmic 660, pseudogene pseudogene pseudogene Approved 14q12 14q12 2013-04-02 2015-02-12 106479463 ENSG00000278746 uc059aqd.1 NG_045555 HGNC:46676 +HGNC:46679 RN7SL663P RNA, 7SL, cytoplasmic 663, pseudogene pseudogene pseudogene Approved 19q13.13 19q13.13 2013-04-02 2015-02-12 106481103 ENSG00000275132 uc060xyr.1 NG_046730 HGNC:46679 +HGNC:46680 RN7SL664P RNA, 7SL, cytoplasmic 664, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2013-04-02 2013-04-02 106479464 ENSG00000265078 uc062jft.1 NG_043744 HGNC:46680 +HGNC:46681 RN7SL665P RNA, 7SL, cytoplasmic 665, pseudogene pseudogene pseudogene Approved 9q34.11 09q34.11 2013-04-02 2013-04-02 106481104 ENSG00000264169 uc064wne.1 NG_045892 HGNC:46681 +HGNC:46682 RN7SL666P RNA, 7SL, cytoplasmic 666, pseudogene pseudogene pseudogene Approved 20q13.11 20q13.11 2013-04-02 2013-04-02 106481854 ENSG00000240639 uc061xco.1 NG_044414 HGNC:46682 +HGNC:46683 RN7SL667P RNA, 7SL, cytoplasmic 667, pseudogene pseudogene pseudogene Approved Xq28 Xq28 2013-04-02 2013-04-02 106479465 ENSG00000265170 uc065bst.1 NG_043753 HGNC:46683 +HGNC:46684 RN7SL668P RNA, 7SL, cytoplasmic 668, pseudogene pseudogene pseudogene Approved 1q42.3 01q42.3 2013-04-02 2013-04-02 106479466 ENSG00000239690 uc057qmo.1 NG_043760 HGNC:46684 +HGNC:46686 RN7SL670P RNA, 7SL, cytoplasmic 670, pseudogene pseudogene pseudogene Approved 2q33.2 02q33.2 2013-04-02 2013-04-02 106481105 ENSG00000264041 uc061rpr.1 NG_007956 HGNC:46686 +HGNC:46687 RN7SL671P RNA, 7SL, cytoplasmic 671, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 2013-04-02 2017-02-17 106479467 uc062unb.1 NG_043765 HGNC:46687 +HGNC:46688 RN7SL672P RNA, 7SL, cytoplasmic 672, pseudogene pseudogene pseudogene Approved 20q13.13 20q13.13 2013-04-02 2013-04-02 106481106 ENSG00000239742 uc061xsd.1 NG_012119 HGNC:46688 +HGNC:46689 RN7SL673P RNA, 7SL, cytoplasmic 673, pseudogene pseudogene pseudogene Approved 15q13.2 15q13.2 2013-04-02 2015-02-12 106480525 ENSG00000273818 uc021sgv.2 NG_045684 HGNC:46689 +HGNC:46690 RN7SL674P RNA, 7SL, cytoplasmic 674, pseudogene pseudogene pseudogene Approved 2p25.1 02p25.1 2013-04-02 2013-04-02 106479468 ENSG00000239899 uc021vdz.2 NG_045573 HGNC:46690 +HGNC:46691 RN7SL675P RNA, 7SL, cytoplasmic 675, pseudogene pseudogene pseudogene Approved 8q13.3 08q13.3 2013-04-02 2013-04-02 106481107 ENSG00000239580 uc064noi.1 NG_044576 HGNC:46691 +HGNC:46692 RN7SL676P RNA, 7SL, cytoplasmic 676, pseudogene pseudogene pseudogene Approved 12p13.1 12p13.1 2013-04-02 2013-04-02 106479469 ENSG00000265119 uc058pch.1 NG_043783 HGNC:46692 +HGNC:46693 RN7SL677P RNA, 7SL, cytoplasmic 677, pseudogene pseudogene pseudogene Approved 15q26.2 15q26.2 2013-04-02 2013-04-02 106479470 ENSG00000242863 uc021sxg.2 NG_043791 HGNC:46693 +HGNC:46694 RN7SL678P RNA, 7SL, cytoplasmic 678, pseudogene pseudogene pseudogene Approved 21q22.13 21q22.13 2013-04-02 2013-04-02 106481108 ENSG00000263969 uc062aai.1 NG_045902 HGNC:46694 +HGNC:46695 RN7SL679P RNA, 7SL, cytoplasmic 679, pseudogene pseudogene pseudogene Approved 1p36.11 01p36.11 2013-04-02 2013-04-02 106481855 ENSG00000243905 uc057dsy.1 NG_044422 HGNC:46695 +HGNC:46696 RN7SL680P RNA, 7SL, cytoplasmic 680, pseudogene pseudogene pseudogene Approved 20q12 20q12 2013-04-02 2015-02-12 106480380 ENSG00000275337 uc061wzq.1 NG_044911 HGNC:46696 +HGNC:46697 RN7SL681P RNA, 7SL, cytoplasmic 681, pseudogene pseudogene pseudogene Approved 4q22.1 04q22.1 2013-04-02 2013-04-02 106479471 ENSG00000240966 uc062yar.1 NG_045582 HGNC:46697 +HGNC:46699 RN7SL683P RNA, 7SL, cytoplasmic 683, pseudogene pseudogene pseudogene Approved 14q24.2 14q24.2 2013-04-02 2013-04-02 106481109 ENSG00000242330 uc021rvt.2 NG_044595 HGNC:46699 +HGNC:46700 RN7SL684P RNA, 7SL, cytoplasmic 684, pseudogene pseudogene pseudogene Approved 5q35.2 05q35.2 2013-04-02 2013-04-02 106479472 ENSG00000243959 uc063jzj.1 NG_043807 HGNC:46700 +HGNC:46701 RN7SL685P RNA, 7SL, cytoplasmic 685, pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 2013-04-02 2013-04-02 106479473 ENSG00000242315 uc064pdd.1 NG_043817 HGNC:46701 +HGNC:46703 RN7SL687P RNA, 7SL, cytoplasmic 687, pseudogene pseudogene pseudogene Approved Xq28 Xq28 2013-04-02 2013-04-02 106481110 ENSG00000244335 uc065buf.1 NG_045907 HGNC:46703 +HGNC:46704 RN7SL688P RNA, 7SL, cytoplasmic 688, pseudogene pseudogene pseudogene Approved 11q23.3 11q23.3 2013-04-02 2013-04-02 106479474 ENSG00000239726 uc058ibu.1 NG_043824 HGNC:46704 +HGNC:46705 RN7SL689P RNA, 7SL, cytoplasmic 689, pseudogene pseudogene pseudogene Approved 5q23.2 05q23.2 2013-04-02 2013-04-02 106481111 ENSG00000263432 uc063gle.1 NG_044613 HGNC:46705 +HGNC:46706 RN7SL690P RNA, 7SL, cytoplasmic 690, pseudogene pseudogene pseudogene Approved 20p11.23 20p11.23 2013-04-02 2013-04-02 106479475 ENSG00000264879 uc061vtb.1 NG_045592 HGNC:46706 +HGNC:46707 RN7SL691P RNA, 7SL, cytoplasmic 691, pseudogene pseudogene pseudogene Approved 4p13 04p13 2013-04-02 2013-04-02 106481112 ENSG00000239464 uc062whl.1 NG_044621 HGNC:46707 +HGNC:46708 RN7SL692P RNA, 7SL, cytoplasmic 692, pseudogene pseudogene pseudogene Approved 1p22.1 01p22.1 2013-04-02 2013-04-02 106479476 ENSG00000239710 uc057iig.1 NG_043840 HGNC:46708 +HGNC:46709 RN7SL693P RNA, 7SL, cytoplasmic 693, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 2013-04-02 2013-04-02 106479477 ENSG00000265272 uc061dtl.1 NG_043847 HGNC:46709 +HGNC:46713 RN7SL697P RNA, 7SL, cytoplasmic 697, pseudogene pseudogene pseudogene Approved Xq28 Xq28 2013-04-02 2013-04-02 106480526 ENSG00000264484 uc065cgg.1 NG_044023 HGNC:46713 +HGNC:46714 RN7SL698P RNA, 7SL, cytoplasmic 698, pseudogene pseudogene pseudogene Approved 3q21.3 03q21.3 2013-04-02 2013-04-02 106481113 ENSG00000244232 uc062noo.1 NG_008070 HGNC:46714 +HGNC:46716 RN7SL700P RNA, 7SL, cytoplasmic 700, pseudogene pseudogene pseudogene Approved 13q14.2 13q14.2 2013-04-02 2013-04-02 106479478 ENSG00000244521 uc021rjk.2 NG_043853 HGNC:46716 +HGNC:46718 RN7SL702P RNA, 7SL, cytoplasmic 702, pseudogene pseudogene pseudogene Approved Yq11.21 Yq11.21 2013-04-02 2013-04-02 106481114 ENSG00000243980 uc065crm.1 NG_044637 HGNC:46718 +HGNC:46719 RN7SL703P RNA, 7SL, cytoplasmic 703, pseudogene pseudogene pseudogene Approved 3q26.33 03q26.33 2013-04-02 2013-04-02 106479479 ENSG00000266317 uc062qku.1 NG_043857 HGNC:46719 +HGNC:46720 RN7SL704P RNA, 7SL, cytoplasmic 704, pseudogene pseudogene pseudogene Approved 22q13.1 22q13.1 2013-04-02 2013-04-02 106481115 ENSG00000241693 uc062eev.1 NG_044641 HGNC:46720 +HGNC:46721 RN7SL705P RNA, 7SL, cytoplasmic 705, pseudogene pseudogene pseudogene Approved 18q21.33 18q21.33 2013-04-02 2013-04-02 106481856 ENSG00000243549 uc060puj.1 NG_044432 HGNC:46721 +HGNC:46722 RN7SL706P RNA, 7SL, cytoplasmic 706, pseudogene pseudogene pseudogene Approved 14q24.1 14q24.1 2013-04-02 2013-04-02 106479480 ENSG00000244677 uc059csq.1 NG_043863 HGNC:46722 +HGNC:46724 RN7SL708P RNA, 7SL, cytoplasmic 708, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 2013-04-02 2013-04-02 106479481 ENSG00000265675 uc061azd.1 NG_043870 HGNC:46724 +HGNC:46725 RN7SL709P RNA, 7SL, cytoplasmic 709, pseudogene pseudogene pseudogene Approved 8p11.23 08p11.23 2013-04-02 2013-04-02 106481116 ENSG00000241032 uc064lyn.1 NG_044650 HGNC:46725 +HGNC:46727 RN7SL711P RNA, 7SL, cytoplasmic 711, pseudogene pseudogene pseudogene Approved 5q23.2 05q23.2 2013-04-02 2015-02-12 106479482 ENSG00000276047 uc063glh.1 NG_043878 HGNC:46727 +HGNC:46728 RN7SL712P RNA, 7SL, cytoplasmic 712, pseudogene pseudogene pseudogene Approved Xq23 Xq23 2013-04-02 2013-04-02 106481117 ENSG00000266828 uc065aux.1 NG_045933 HGNC:46728 +HGNC:46729 RN7SL713P RNA, 7SL, cytoplasmic 713, pseudogene pseudogene pseudogene Approved 1p32.1 01p32.1 2013-04-02 2013-04-02 106480381 ENSG00000264128 uc057gyy.1 NG_044917 HGNC:46729 +HGNC:46730 RN7SL714P RNA, 7SL, cytoplasmic 714, pseudogene pseudogene pseudogene Approved 14q32.2 14q32.2 2013-04-02 2013-04-02 106480527 ENSG00000241757 uc059eyx.1 NG_044032 HGNC:46730 +HGNC:46731 RN7SL715P RNA, 7SL, cytoplasmic 715, pseudogene pseudogene pseudogene Approved 3q25.31 03q25.31 2013-04-02 2015-02-12 106479483 ENSG00000272096 uc062pfg.1 NG_043885 HGNC:46731 +HGNC:46732 RN7SL716P RNA, 7SL, cytoplasmic 716, pseudogene pseudogene pseudogene Approved 17q22 17q22 2013-04-02 2013-04-02 106479484 ENSG00000263558 uc060iav.1 NG_043895 HGNC:46732 +HGNC:46733 RN7SL717P RNA, 7SL, cytoplasmic 717, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-04-02 2013-04-02 106481118 ENSG00000240302 uc061rdi.1 NG_045188 HGNC:46733 +HGNC:46734 RN7SL718P RNA, 7SL, cytoplasmic 718, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 2013-04-02 2013-04-02 106479485 ENSG00000264423 uc060yyu.1 NG_043903 HGNC:46734 +HGNC:46735 RN7SL719P RNA, 7SL, cytoplasmic 719, pseudogene pseudogene pseudogene Approved 15q13.1 15q13.1 2013-04-02 2015-02-12 106481119 ENSG00000274632 uc059gzn.1 NG_045942 HGNC:46735 +HGNC:46736 RN7SL720P RNA, 7SL, cytoplasmic 720, pseudogene pseudogene pseudogene Approved 9p22.2 09p22.2 2013-04-02 2013-04-02 106480528 ENSG00000241152 uc064sgq.1 NG_044039 HGNC:46736 +HGNC:46738 RN7SL722P RNA, 7SL, cytoplasmic 722, pseudogene pseudogene pseudogene Approved 9p11.2 09p11.2 2013-04-02 2015-02-12 106479486 ENSG00000273940 uc064tje.1 NG_043909 HGNC:46738 +HGNC:46740 RN7SL724P RNA, 7SL, cytoplasmic 724, pseudogene pseudogene pseudogene Approved 3q23 03q23 2013-04-02 2013-04-02 106479487 ENSG00000244692 uc021xer.2 NG_045630 HGNC:46740 +HGNC:46741 RN7SL725P RNA, 7SL, cytoplasmic 725, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2013-04-02 2015-02-12 106481120 ENSG00000278242 uc065cwi.1 NG_045948 HGNC:46741 +HGNC:46742 RN7SL726P RNA, 7SL, cytoplasmic 726, pseudogene pseudogene pseudogene Approved 9q21.12 09q21.12 2013-04-02 2015-02-12 106479488 ENSG00000272232 uc064trj.1 NG_047197 HGNC:46742 +HGNC:46743 RN7SL727P RNA, 7SL, cytoplasmic 727, pseudogene pseudogene pseudogene Approved Xq27.1 Xq27.1 2013-04-02 2013-04-02 106481121 ENSG00000241248 uc065bjw.1 NG_044686 HGNC:46743 +HGNC:46744 RN7SL728P RNA, 7SL, cytoplasmic 728, pseudogene pseudogene pseudogene Approved 4q24 04q24 2013-04-02 2013-04-02 106481857 ENSG00000241144 uc062yod.1 NG_044440 HGNC:46744 +HGNC:46747 RN7SL731P RNA, 7SL, cytoplasmic 731, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 2013-04-02 2013-04-02 107048981 ENSG00000264501 uc057cch.1 NG_008069 HGNC:46747 +HGNC:46748 RN7SL732P RNA, 7SL, cytoplasmic 732, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 2013-04-02 2013-04-02 106481122 ENSG00000264618 uc064yoo.1 NG_044694 HGNC:46748 +HGNC:46749 RN7SL733P RNA, 7SL, cytoplasmic 733, pseudogene pseudogene pseudogene Approved 10q23.2 10q23.2 2013-04-02 2015-02-12 106479489 ENSG00000273946 uc057urm.1 NG_043926 HGNC:46749 +HGNC:46750 RN7SL734P RNA, 7SL, cytoplasmic 734, pseudogene pseudogene pseudogene Approved 12q21.2 12q21.2 2013-04-02 2013-04-02 106479490 ENSG00000243420 uc058rco.1 NG_043932 HGNC:46750 +HGNC:46751 RN7SL735P RNA, 7SL, cytoplasmic 735, pseudogene pseudogene pseudogene Approved 17q24.2 17q24.2 2013-04-02 2013-04-02 106480529 ENSG00000244044 uc060jac.1 NG_045693 HGNC:46751 +HGNC:46752 RN7SL736P RNA, 7SL, cytoplasmic 736, pseudogene pseudogene pseudogene Approved 15q26.1 15q26.1 2013-04-02 2015-02-12 107080652 ENSG00000275803 uc059nem.1 NG_046565 HGNC:46752 +HGNC:46753 RN7SL737P RNA, 7SL, cytoplasmic 737, pseudogene pseudogene pseudogene Approved 12q22 12q22 2013-04-02 2013-04-02 106481123 ENSG00000243015 uc058rth.1 NG_044704 HGNC:46753 +HGNC:46754 RN7SL738P RNA, 7SL, cytoplasmic 738, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-04-02 2013-04-02 106480695 ENSG00000243339 uc062sbm.1 NG_043370 HGNC:46754 +HGNC:46756 RN7SL740P RNA, 7SL, cytoplasmic 740, pseudogene pseudogene pseudogene Approved 21q22.11 21q22.11 2013-04-02 2013-04-02 106479491 ENSG00000244294 uc061zuk.1 NG_043939 HGNC:46756 +HGNC:46757 RN7SL741P RNA, 7SL, cytoplasmic 741, pseudogene pseudogene pseudogene Approved 13q12.13 13q12.13 2013-04-02 2013-04-02 106481124 ENSG00000242381 uc058vzd.1 NG_045957 HGNC:46757 +HGNC:46759 RN7SL743P RNA, 7SL, cytoplasmic 743, pseudogene pseudogene pseudogene Approved 16p13.2 16p13.2 2013-04-02 2013-04-02 106479492 ENSG00000243954 uc059qon.1 NG_008432 HGNC:46759 +HGNC:46760 RN7SL744P RNA, 7SL, cytoplasmic 744, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 2013-04-02 2013-04-02 106479493 ENSG00000264028 uc058owo.1 NG_045652 HGNC:46760 +HGNC:46761 RN7SL745P RNA, 7SL, cytoplasmic 745, pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 2013-04-02 2013-04-02 106481858 ENSG00000242182 uc060nwm.1 NG_045847 HGNC:46761 +HGNC:46764 RN7SL748P RNA, 7SL, cytoplasmic 748, pseudogene pseudogene pseudogene Approved 6p21.31 06p21.31 2013-04-02 2013-04-02 106481125 ENSG00000239964 uc063oeh.1 NG_044721 HGNC:46764 +HGNC:46765 RN7SL749P RNA, 7SL, cytoplasmic 749, pseudogene pseudogene pseudogene Approved 10q26.11 10q26.11 2013-04-02 2013-04-02 106479494 ENSG00000242853 uc057wif.1 NG_045657 HGNC:46765 +HGNC:46766 RN7SL750P RNA, 7SL, cytoplasmic 750, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 2013-04-02 2013-04-02 106481126 ENSG00000263672 uc064ghu.1 NG_052671 HGNC:46766 +HGNC:46767 RN7SL751P RNA, 7SL, cytoplasmic 751, pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 2013-04-02 2013-04-02 106479495 ENSG00000240964 uc062lqp.1 NG_011729 HGNC:46767 +HGNC:46768 RN7SL752P RNA, 7SL, cytoplasmic 752, pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 2013-04-02 2013-04-02 106481127 ENSG00000239437 uc062nsv.1 NG_044740 HGNC:46768 +HGNC:46769 RN7SL753P RNA, 7SL, cytoplasmic 753, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-04-02 2013-04-02 106479496 ENSG00000264275 uc061rnf.1 NG_045114 HGNC:46769 +HGNC:46770 RN7SL754P RNA, 7SL, cytoplasmic 754, pseudogene pseudogene pseudogene Approved 10p15.3 10p15.3 2013-04-02 2013-04-02 106479497 ENSG00000239822 uc057rdw.1 NG_045667 HGNC:46770 +HGNC:46772 RN7SL756P RNA, 7SL, cytoplasmic 756, pseudogene pseudogene pseudogene Approved 17q24.2 17q24.2 2013-04-02 2013-04-02 106481128 ENSG00000244610 uc060jbh.1 NG_044748 HGNC:46772 +HGNC:46773 RN7SL757P RNA, 7SL, cytoplasmic 757, pseudogene pseudogene pseudogene Approved 22q12.1 22q12.1 2013-04-02 2013-04-02 106480530 ENSG00000239249 uc062ctw.1 NG_045696 HGNC:46773 +HGNC:46775 RN7SL759P RNA, 7SL, cytoplasmic 759, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-04-02 2015-02-12 106479498 ENSG00000278497 uc059gpc.1 NG_045673 HGNC:46775 +HGNC:46776 RN7SL760P RNA, 7SL, cytoplasmic 760, pseudogene pseudogene pseudogene Approved 8q21.11 08q21.11 2013-04-02 2015-02-12 106481129 ENSG00000272469 uc064ntd.1 NG_045969 HGNC:46776 +HGNC:46777 RN7SL761P RNA, 7SL, cytoplasmic 761, pseudogene pseudogene pseudogene Approved 13q21.33 13q21.33 2013-04-02 2013-04-02 106479499 ENSG00000243671 uc058xjy.1 NG_043994 HGNC:46777 +HGNC:46778 RN7SL762P RNA, 7SL, cytoplasmic 762, pseudogene pseudogene pseudogene Approved 3q13.33 03q13.33 2013-04-02 2013-04-02 106479500 ENSG00000244308 uc062mwh.1 NG_044003 HGNC:46778 +HGNC:46779 RN7SL763P RNA, 7SL, cytoplasmic 763, pseudogene pseudogene pseudogene Approved 9p12 09p12 2013-04-02 2015-02-12 106481130 ENSG00000277774 uc064tex.1 NG_044764 HGNC:46779 +HGNC:46780 RN7SL764P RNA, 7SL, cytoplasmic 764, pseudogene pseudogene pseudogene Approved 2q35 02q35 2013-04-02 2013-04-02 106480531 ENSG00000240317 uc061sqs.1 NG_044065 HGNC:46780 +HGNC:46782 RN7SL766P RNA, 7SL, cytoplasmic 766, pseudogene pseudogene pseudogene Approved 13q12.11 13q12.11 2013-04-02 2013-04-02 106479501 ENSG00000244197 uc058vwg.1 NG_044012 HGNC:46782 +HGNC:46783 RN7SL767P RNA, 7SL, cytoplasmic 767, pseudogene pseudogene pseudogene Approved 3q13.2 03q13.2 2013-04-02 2013-04-02 106481131 ENSG00000241529 uc021xcr.2 NG_044773 HGNC:46783 +HGNC:46785 RN7SL769P RNA, 7SL, cytoplasmic 769, pseudogene pseudogene pseudogene Approved 12q24.11 12q24.11 2013-04-02 2015-02-12 106479502 ENSG00000276956 uc058tcu.1 NG_044019 HGNC:46785 +HGNC:46787 RN7SL771P RNA, 7SL, cytoplasmic 771, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-04-02 2013-04-02 106481132 ENSG00000240173 uc064ioy.1 NG_044780 HGNC:46787 +HGNC:46790 RN7SL774P RNA, 7SL, cytoplasmic 774, pseudogene pseudogene pseudogene Approved 17p13.2 17p13.2 2013-04-02 2013-04-02 106481761 ENSG00000263882 uc059ztc.1 NG_045545 HGNC:46790 +HGNC:46791 RN7SL775P RNA, 7SL, cytoplasmic 775, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-04-02 2013-04-02 106481859 ENSG00000243370 uc060bvk.1 NG_045849 HGNC:46791 +HGNC:46792 RN7SL776P RNA, 7SL, cytoplasmic 776, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 2013-04-02 2013-04-02 106479503 ENSG00000240772 uc063avd.1 NG_044028 HGNC:46792 +HGNC:46794 RN7SL778P RNA, 7SL, cytoplasmic 778, pseudogene pseudogene pseudogene Approved 11q24.3 11q24.3 2013-04-02 2015-02-12 106479504 ENSG00000272412 uc058jdq.1 NG_044036 HGNC:46794 +HGNC:46798 RN7SL782P RNA, 7SL, cytoplasmic 782, pseudogene pseudogene pseudogene Approved 5q21.3 05q21.3 2013-04-02 2013-04-02 106481133 ENSG00000239708 uc021ycb.2 NG_044790 HGNC:46798 +HGNC:46799 RN7SL783P RNA, 7SL, cytoplasmic 783, pseudogene pseudogene pseudogene Approved 13q34 13q34 2013-04-02 2013-04-02 106479505 ENSG00000265885 uc058yfm.1 NG_044044 HGNC:46799 +HGNC:46800 RN7SL784P RNA, 7SL, cytoplasmic 784, pseudogene pseudogene pseudogene Approved 17p13.2 17p13.2 2013-04-02 2013-04-02 106481134 ENSG00000264113 uc059zww.1 NG_045986 HGNC:46800 +HGNC:46801 RN7SL785P RNA, 7SL, cytoplasmic 785, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 2013-04-02 2013-04-02 106480532 ENSG00000266158 uc064yvi.1 NG_044075 HGNC:46801 +HGNC:46802 RN7SL786P RNA, 7SL, cytoplasmic 786, pseudogene pseudogene pseudogene Approved 11q13.5 11q13.5 2013-04-02 2013-04-02 106479506 ENSG00000263993 uc058fpa.1 NG_044055 HGNC:46802 +HGNC:46803 RN7SL787P RNA, 7SL, cytoplasmic 787, pseudogene pseudogene pseudogene Approved 9q13 09q13 2013-04-02 2015-02-12 106479507 ENSG00000274098 uc064tmv.1 NG_045127 HGNC:46803 +HGNC:46804 RN7SL788P RNA, 7SL, cytoplasmic 788, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2013-04-02 2013-04-02 106481135 ENSG00000241745 uc057gnr.1 NG_045989 HGNC:46804 +HGNC:46805 RN7SL789P RNA, 7SL, cytoplasmic 789, pseudogene pseudogene pseudogene Approved 19q13.11 19q13.11 2013-04-02 2013-04-02 106479508 ENSG00000242436 uc060wsc.1 NG_045698 HGNC:46805 +HGNC:46806 RN7SL790P RNA, 7SL, cytoplasmic 790, pseudogene pseudogene pseudogene Approved Xq13.2 Xq13.2 2013-04-02 2013-04-02 106481136 ENSG00000239745 uc064zzw.1 NG_044815 HGNC:46806 +HGNC:46807 RN7SL791P RNA, 7SL, cytoplasmic 791, pseudogene pseudogene pseudogene Approved 5q32 05q32 2013-04-02 2013-04-02 106481860 ENSG00000241291 uc063ijb.1 NG_011570 HGNC:46807 +HGNC:46808 RN7SL792P RNA, 7SL, cytoplasmic 792, pseudogene pseudogene pseudogene Approved 17p12 17p12 2013-04-02 2013-04-02 106479509 ENSG00000239888 uc060blu.1 NG_044080 HGNC:46808 +HGNC:46809 RN7SL793P RNA, 7SL, cytoplasmic 793, pseudogene pseudogene pseudogene Approved 12q23.2 12q23.2 2013-04-02 2013-04-02 106481137 ENSG00000264554 uc031zld.2 NG_044823 HGNC:46809 +HGNC:46810 RN7SL794P RNA, 7SL, cytoplasmic 794, pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 2013-04-02 2013-04-02 106479510 ENSG00000240235 uc064uts.1 NG_044086 HGNC:46810 +HGNC:46811 RN7SL795P RNA, 7SL, cytoplasmic 795, pseudogene pseudogene pseudogene Approved 18q22.2 18q22.2 2013-04-02 2013-04-02 106479511 ENSG00000239748 uc021ulk.1 NG_044097 HGNC:46811 +HGNC:46812 RN7SL796P RNA, 7SL, cytoplasmic 796, pseudogene pseudogene pseudogene Approved 15q13.2 15q13.2 2013-04-02 2015-02-12 107080653 ENSG00000277031 uc021sho.2 NG_046566 HGNC:46812 +HGNC:46813 RN7SL797P RNA, 7SL, cytoplasmic 797, pseudogene pseudogene pseudogene Approved 6q16.1 06q16.1 2013-04-02 2013-04-02 106481138 ENSG00000242560 uc063qdv.1 NG_044831 HGNC:46813 +HGNC:46814 RN7SL798P RNA, 7SL, cytoplasmic 798, pseudogene pseudogene pseudogene Approved 8q12.1 08q12.1 2013-04-02 2013-04-02 106480533 ENSG00000240905 uc064myb.1 NG_044082 HGNC:46814 +HGNC:46815 RN7SL799P RNA, 7SL, cytoplasmic 799, pseudogene pseudogene pseudogene Approved Xq11.2 Xq11.2 2013-04-02 2013-04-02 106480382 ENSG00000244006 uc064zpv.1 NG_044922 HGNC:46815 +HGNC:46816 RN7SL800P RNA, 7SL, cytoplasmic 800, pseudogene pseudogene pseudogene Approved 17q23.2 17q23.2 2013-04-02 2013-04-02 106479512 ENSG00000242398 uc060ikl.1 NG_046948 HGNC:46816 +HGNC:46817 RN7SL801P RNA, 7SL, cytoplasmic 801, pseudogene pseudogene pseudogene Approved 5q11.2 05q11.2 2013-04-02 2013-04-02 106481139 ENSG00000241230 uc063doh.1 NG_046004 HGNC:46817 +HGNC:46818 RN7SL802P RNA, 7SL, cytoplasmic 802, pseudogene pseudogene pseudogene Approved 5q21.1 05q21.1 2013-04-02 2015-02-12 106479513 ENSG00000277506 uc063fsu.1 NG_044114 HGNC:46818 +HGNC:46819 RN7SL803P RNA, 7SL, cytoplasmic 803, pseudogene pseudogene pseudogene Approved 5q33.2 05q33.2 2013-04-02 2015-02-12 106479514 ENSG00000272197 uc063izj.1 NG_044122 HGNC:46819 +HGNC:46820 RN7SL804P RNA, 7SL, cytoplasmic 804, pseudogene pseudogene pseudogene Approved 12q15 12q15 2013-04-02 2013-04-02 106481140 ENSG00000266185 uc058qtp.1 NG_046007 HGNC:46820 +HGNC:46822 RN7SL806P RNA, 7SL, cytoplasmic 806, pseudogene pseudogene pseudogene Approved 8p11.21 08p11.21 2013-04-02 2013-04-02 106479515 ENSG00000242719 uc064mng.1 NG_032868 HGNC:46822 +HGNC:46823 RN7SL807P RNA, 7SL, cytoplasmic 807, pseudogene pseudogene pseudogene Approved 2q36.1 02q36.1 2013-04-02 2013-04-02 106481141 ENSG00000243125 uc061tby.1 NG_044857 HGNC:46823 +HGNC:46824 RN7SL808P RNA, 7SL, cytoplasmic 808, pseudogene pseudogene pseudogene Approved 4q26 04q26 2013-04-02 2013-04-02 106481861 ENSG00000240637 uc021xqx.2 NG_044466 HGNC:46824 +HGNC:46825 RN7SL809P RNA, 7SL, cytoplasmic 809, pseudogene pseudogene pseudogene Approved 12q13.3 12q13.3 2013-04-02 2013-04-02 106479516 ENSG00000241217 uc058pqa.1 NG_045724 HGNC:46825 +HGNC:46826 RN7SL810P RNA, 7SL, cytoplasmic 810, pseudogene pseudogene pseudogene Approved 13q22.3 13q22.3 2013-04-02 2013-04-02 106481142 ENSG00000243035 uc058xpz.1 NG_046012 HGNC:46826 +HGNC:46827 RN7SL811P RNA, 7SL, cytoplasmic 811, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 2013-04-02 2013-04-02 106479517 ENSG00000265439 uc063ovo.1 NG_044143 HGNC:46827 +HGNC:46828 RN7SL812P RNA, 7SL, cytoplasmic 812, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 2013-04-02 2013-04-02 106479518 ENSG00000242876 uc062btf.1 NG_045732 HGNC:46828 +HGNC:46829 RN7SL813P RNA, 7SL, cytoplasmic 813, pseudogene pseudogene pseudogene Approved 2q24.3 02q24.3 2013-04-02 2013-04-02 106480534 ENSG00000241074 uc021vsd.2 NG_044090 HGNC:46829 +HGNC:46830 RN7SL814P RNA, 7SL, cytoplasmic 814, pseudogene pseudogene pseudogene Approved 5q13.3 05q13.3 2013-04-02 2013-04-02 106481143 ENSG00000244326 uc063enx.1 NG_044872 HGNC:46830 +HGNC:46831 RN7SL815P RNA, 7SL, cytoplasmic 815, pseudogene pseudogene pseudogene Approved 3q13.31 03q13.31 2013-04-02 2013-04-02 106479519 ENSG00000243359 uc031saz.2 NG_044155 HGNC:46831 +HGNC:46833 RN7SL817P RNA, 7SL, cytoplasmic 817, pseudogene pseudogene pseudogene Approved 2p21 02p21 2013-04-02 2013-04-02 106481144 ENSG00000241791 uc061ivk.1 NG_045202 HGNC:46833 +HGNC:46834 RN7SL818P RNA, 7SL, cytoplasmic 818, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2013-04-02 2015-02-12 106479520 ENSG00000274234 uc065cvo.1 NG_017010 HGNC:46834 +HGNC:46835 RN7SL819P RNA, 7SL, cytoplasmic 819, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-04-02 2013-04-02 106481145 ENSG00000264251 uc060gbq.1 NG_044889 HGNC:46835 +HGNC:46836 RN7SL820P RNA, 7SL, cytoplasmic 820, pseudogene pseudogene pseudogene Approved 2q32.3 02q32.3 2013-04-02 2015-02-12 106480535 ENSG00000276200 uc061qwt.1 NG_044101 HGNC:46836 +HGNC:46838 RN7SL822P RNA, 7SL, cytoplasmic 822, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-04-02 2013-04-02 106479521 ENSG00000239545 uc062wrp.1 NG_044171 HGNC:46838 +HGNC:46839 RN7SL823P RNA, 7SL, cytoplasmic 823, pseudogene pseudogene pseudogene Approved 19p13.11 19p13.11 2013-04-02 2013-04-02 106479522 ENSG00000263595 uc060vda.1 NG_054892 HGNC:46839 +HGNC:46840 RN7SL824P RNA, 7SL, cytoplasmic 824, pseudogene pseudogene pseudogene Approved 1p22.1 01p22.1 2013-04-02 2013-04-02 106481146 ENSG00000242764 uc057ihr.1 NG_044895 HGNC:46840 +HGNC:46841 RN7SL825P RNA, 7SL, cytoplasmic 825, pseudogene pseudogene pseudogene Approved 10p11.22 10p11.22 2013-04-02 2013-04-02 107080654 ENSG00000239731 uc057spg.1 NG_046567 HGNC:46841 +HGNC:46842 RN7SL826P RNA, 7SL, cytoplasmic 826, pseudogene pseudogene pseudogene Approved 8q24.11 08q24.11 2013-04-02 2013-04-02 106479523 ENSG00000240151 uc022bac.1 NG_045750 HGNC:46842 +HGNC:46843 RN7SL827P RNA, 7SL, cytoplasmic 827, pseudogene pseudogene pseudogene Approved 6q13 06q13 2013-04-02 2015-02-12 106481762 ENSG00000271986 uc063por.1 NG_043706 HGNC:46843 +HGNC:46844 RN7SL828P RNA, 7SL, cytoplasmic 828, pseudogene pseudogene pseudogene Approved 11q23.3 11q23.3 2013-04-02 2015-02-12 106481147 ENSG00000272075 uc058hvr.1 NG_044904 HGNC:46844 +HGNC:46847 RN7SL831P RNA, 7SL, cytoplasmic 831, pseudogene pseudogene pseudogene Approved 1p21.3 01p21.3 2013-04-02 2013-04-02 106481862 ENSG00000241992 uc057ioi.1 NG_044475 HGNC:46847 +HGNC:46848 RN7SL832P RNA, 7SL, cytoplasmic 832, pseudogene pseudogene pseudogene Approved 2p25.1 02p25.1 2013-04-02 2013-04-02 106479524 ENSG00000243819 uc061gqu.1 NR_144555 HGNC:46848 +HGNC:46849 RN7SL833P RNA, 7SL, cytoplasmic 833, pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 2013-04-02 2013-04-02 106479525 ENSG00000244080 uc060tuc.1 NG_045760 HGNC:46849 +HGNC:46850 RN7SL834P RNA, 7SL, cytoplasmic 834, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2013-04-02 2013-04-02 106481148 ENSG00000243650 uc061tjx.1 NG_029842 HGNC:46850 +HGNC:46851 RN7SL835P RNA, 7SL, cytoplasmic 835, pseudogene pseudogene pseudogene Approved 19p13.11 19p13.11 2013-04-02 2013-04-02 106479526 ENSG00000264250 uc060vcz.1 NG_054892 HGNC:46851 +HGNC:46852 RN7SL836P RNA, 7SL, cytoplasmic 836, pseudogene pseudogene pseudogene Approved 19q13.32 19q13.32 2013-04-02 2013-04-02 106481149 ENSG00000241226 uc061abd.1 NG_046038 HGNC:46852 +HGNC:46853 RN7SL837P RNA, 7SL, cytoplasmic 837, pseudogene pseudogene pseudogene Approved 1q42.2 01q42.2 2013-04-02 2013-04-02 106480536 ENSG00000240502 uc057qhq.1 NG_044110 HGNC:46853 +HGNC:46854 RN7SL838P RNA, 7SL, cytoplasmic 838, pseudogene pseudogene pseudogene Approved 11p15.5 11p15.5 2013-04-02 2013-04-02 106479527 ENSG00000243562 uc021qbl.2 NG_052610 HGNC:46854 +HGNC:46856 RN7SL840P RNA, 7SL, cytoplasmic 840, pseudogene pseudogene pseudogene Approved 10q22.1 10q22.1 2013-04-02 2015-02-12 106479528 ENSG00000272536 uc057tyr.1 NG_044223 HGNC:46856 +HGNC:46857 RN7SL841P RNA, 7SL, cytoplasmic 841, pseudogene pseudogene pseudogene Approved 16q12.2 16q12.2 2013-04-02 2013-04-02 106481150 ENSG00000239555 uc059uhr.1 NG_044924 HGNC:46857 +HGNC:46858 RN7SL842P RNA, 7SL, cytoplasmic 842, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 2013-04-02 2013-04-02 106479529 ENSG00000243066 uc060uqg.1 NG_045774 HGNC:46858 +HGNC:46859 RN7SL843P RNA, 7SL, cytoplasmic 843, pseudogene pseudogene pseudogene Approved 22q11.1 22q11.1 2013-04-02 2013-04-02 106481151 ENSG00000239547 uc062bgh.1 NG_044934 HGNC:46859 +HGNC:46861 RN7SL845P RNA, 7SL, cytoplasmic 845, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 2013-04-02 2013-04-02 106481863 ENSG00000244328 uc064jnb.1 NG_045170 HGNC:46861 +HGNC:46862 RN7SL846P RNA, 7SL, cytoplasmic 846, pseudogene pseudogene pseudogene Approved 10q26.11 10q26.11 2013-04-02 2013-04-02 106479530 ENSG00000242818 uc057wiy.1 NG_044999 HGNC:46862 +HGNC:46863 RN7SL847P RNA, 7SL, cytoplasmic 847, pseudogene pseudogene pseudogene Approved 10p11.22 10p11.22 2013-04-02 2013-04-02 106481152 ENSG00000265319 uc057sqy.1 NG_045235 HGNC:46863 +HGNC:46865 RN7SL849P RNA, 7SL, cytoplasmic 849, pseudogene pseudogene pseudogene Approved 9p23 09p23 2013-04-02 2013-04-02 106479531 ENSG00000243115 uc064sdh.1 NG_044245 HGNC:46865 +HGNC:46866 RN7SL850P RNA, 7SL, cytoplasmic 850, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 2013-04-02 2013-04-02 106479532 ENSG00000263955 uc059qgz.1 NG_044255 HGNC:46866 +HGNC:46867 RN7SL851P RNA, 7SL, cytoplasmic 851, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 2013-04-02 2013-04-02 106480537 ENSG00000240718 uc064bgl.1 NG_045714 HGNC:46867 +HGNC:46869 RN7SL853P RNA, 7SL, cytoplasmic 853, pseudogene pseudogene pseudogene Approved 15q24.1 15q24.1 2013-04-02 2015-02-12 106481153 ENSG00000274350 uc059lcj.1 NG_045239 HGNC:46869 +HGNC:46870 RN7SL854P RNA, 7SL, cytoplasmic 854, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-04-02 2013-04-02 106480383 ENSG00000239319 uc057hhi.1 NG_044932 HGNC:46870 +HGNC:46872 RN7SL856P RNA, 7SL, cytoplasmic 856, pseudogene pseudogene pseudogene Approved 2p23.3 02p23.3 2013-04-02 2015-02-12 106479533 ENSG00000276653 uc061her.1 NG_045785 HGNC:46872 +HGNC:46876 RN7SL860P RNA, 7SL, cytoplasmic 860, pseudogene pseudogene pseudogene Approved 19p12 19p12 2013-04-02 2013-04-02 106635537 ENSG00000240713 uc060wjb.1 NG_042889 HGNC:46876 +HGNC:46877 RN7SL861P RNA, 7SL, cytoplasmic 861, pseudogene pseudogene pseudogene Approved 1q23.3 01q23.3 2013-04-02 2013-04-02 106479534 ENSG00000243173 uc021pds.2 NG_045788 HGNC:46877 +HGNC:46878 RN7SL862P RNA, 7SL, cytoplasmic 862, pseudogene pseudogene pseudogene Approved 18p11.22 18p11.22 2013-04-02 2013-04-02 106479535 ENSG00000242651 uc021ugw.2 NG_044281 HGNC:46878 +HGNC:46879 RN7SL863P RNA, 7SL, cytoplasmic 863, pseudogene pseudogene pseudogene Approved 3p14.2 03p14.2 2013-04-02 2013-04-02 106480538 ENSG00000244632 uc021wzw.2 NG_045719 HGNC:46879 +HGNC:46880 RN7SL864P RNA, 7SL, cytoplasmic 864, pseudogene pseudogene pseudogene Approved 20p12.1 20p12.1 2013-04-02 2013-04-02 106479536 ENSG00000239923 uc021waq.2 NG_054905 HGNC:46880 +HGNC:46881 RN7SL865P RNA, 7SL, cytoplasmic 865, pseudogene pseudogene pseudogene Approved 12q24.21 12q24.21 2013-04-02 2013-04-02 106481154 ENSG00000240205 uc021reg.2 NG_042917 HGNC:46881 +HGNC:46884 RN7SL868P RNA, 7SL, cytoplasmic 868, pseudogene pseudogene pseudogene Approved 5q32 05q32 2013-04-02 2013-04-02 106479537 ENSG00000242928 uc063ipb.1 NG_044299 HGNC:46884 +HGNC:46885 RN7SL869P RNA, 7SL, cytoplasmic 869, pseudogene pseudogene pseudogene Approved 7q21.11 07q21.11 2013-04-02 2013-04-02 106481864 ENSG00000244392 uc064eug.1 NG_044489 HGNC:46885 +HGNC:46886 RN7SL870P RNA, 7SL, cytoplasmic 870, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2013-04-02 2013-04-02 106481155 ENSG00000244732 uc062jeh.1 NG_042927 HGNC:46886 +HGNC:44282 RNA5-8S1 RNA, 5.8S ribosomal 1 non-coding RNA RNA, ribosomal Approved 13p12 not on reference assembly 13p12 not on reference assembly 5.8S rRNA 1 5.8S ribosomal RNAs 1384 2012-08-07 2017-03-17 106632263 +HGNC:44283 RNA5-8S2 RNA, 5.8S ribosomal 2 non-coding RNA RNA, ribosomal Approved 14p12 not on reference assembly 14p12 not on reference assembly 5.8S rRNA 2 5.8S ribosomal RNAs 1384 2012-08-07 2017-03-17 106632262 +HGNC:44284 RNA5-8S3 RNA, 5.8S ribosomal 3 non-coding RNA RNA, ribosomal Approved 15p12 not on reference assembly 15p12 not on reference assembly 5.8S rRNA 3 5.8S ribosomal RNAs 1384 2012-08-07 2017-03-17 106632261 +HGNC:44285 RNA5-8S4 RNA, 5.8S ribosomal 4 non-coding RNA RNA, ribosomal Approved 21p12 not on reference assembly 21p12 not on reference assembly 5.8S rRNA 4 5.8S ribosomal RNAs 1384 2012-08-07 2018-04-18 110255166 +HGNC:37660 RNA5-8S5 RNA, 5.8S ribosomal 5 non-coding RNA RNA, ribosomal Approved 22p12 not on reference assembly 22p12 not on reference assembly 5.8S rRNA 5 RN5-8S1 5.8S ribosomal RNAs 1384 2009-12-16 2012-08-07 2012-08-07 2018-04-18 110255170 uc033dnj.2 +HGNC:53517 RNA5-8SN1 RNA, 5.8S ribosomal N1 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 106632260 ENSG00000278189 NR_145821 HGNC:53517 +HGNC:53521 RNA5-8SN2 RNA, 5.8S ribosomal N2 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 RNA5-8N2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-06-23 2017-06-23 109864281 ENSG00000278233 NR_146147 HGNC:53521 +HGNC:53525 RNA5-8SN3 RNA, 5.8S ribosomal N3 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 109910381 ENSG00000275215 NR_146153 RGD:5687331 HGNC:53525 +HGNC:53529 RNA5-8SN4 RNA, 5.8S ribosomal N4 non-coding RNA RNA, ribosomal Approved 22 unplaced 22 unplaced Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 109864274 ENSG00000276700 NR_146120 +HGNC:53533 RNA5-8SN5 RNA, 5.8S ribosomal N5 non-coding RNA RNA, ribosomal Approved unplaced unplaced Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 100008587 ENSG00000274917 NR_003285 +HGNC:41956 RNA5-8SP2 RNA, 5.8S ribosomal pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 RN5-8S2 RNA, 5.8S ribosomal 2 2011-05-23 2012-08-07 2012-08-07 2012-08-07 100873571 ENSG00000200434 uc021thn.2 NG_033434 HGNC:41956 +HGNC:41957 RNA5-8SP3 RNA, 5.8S ribosomal pseudogene 3 pseudogene pseudogene Approved 9q31.3 09q31.3 RN5-8S3 RNA, 5.8S ribosomal 3 2011-05-23 2012-08-07 2012-08-07 2017-02-17 100873334 uc022blm.1 NG_033470 HGNC:41957 +HGNC:41958 RNA5-8SP4 RNA, 5.8S ribosomal pseudogene 4 pseudogene pseudogene Approved 19p12 19p12 RN5-8S4 RNA, 5.8S ribosomal 4 2011-05-23 2012-08-07 2012-08-07 2012-08-07 100873572 ENSG00000201966 uc060wln.1 NG_033436 HGNC:41958 +HGNC:41959 RNA5-8SP5 RNA, 5.8S ribosomal pseudogene 5 pseudogene pseudogene Approved 2q21.2 02q21.2 RN5-8S5 RNA, 5.8S ribosomal 5 2011-05-23 2012-08-07 2012-08-07 2012-08-07 100873335 ENSG00000202174 uc061nxi.1 NG_033472 HGNC:41959 +HGNC:41960 RNA5-8SP6 RNA, 5.8S ribosomal pseudogene 6 pseudogene pseudogene Approved Yp11.2 Yp11.2 RN5-8S6 RNA, 5.8S ribosomal 6 2011-05-23 2012-08-07 2012-08-07 2012-08-07 100873336 ENSG00000251705 uc022cjg.2 NG_033474 HGNC:41960 +HGNC:41962 RNA5-8SP7 RNA, 5.8S ribosomal pseudogene 7 pseudogene pseudogene Approved 20p12.3 20p12.3 RN5-8S7 RNA, 5.8S ribosomal 7 2011-05-23 2012-08-07 2012-08-07 2012-08-07 100873573 ENSG00000200313 uc061vfw.1 NG_033438 HGNC:41962 +HGNC:53536 RNA5-8SP8 RNA, 5.8S ribosomal pseudogene 8 pseudogene pseudogene Approved 22 22 2017-05-12 2017-05-31 109864278 NG_054872 +HGNC:53537 RNA5-8SP9 RNA, 5.8S ribosomal pseudogene 9 pseudogene pseudogene Approved 22 22 2017-05-12 2017-05-31 109864276 NG_054874 +HGNC:53559 RNA5-8SP10 RNA, 5.8S ribosomal pseudogene 10 pseudogene pseudogene Approved 21p11.2 21p11.2 2017-05-31 2017-05-31 109910384 NG_054876 HGNC:53559 +HGNC:34362 RNA5S1 RNA, 5S ribosomal 1 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 1 RN5S1 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-03 100169751 ENSG00000199352 uc031vqk.2 NR_023363 HGNC:34362 +HGNC:34363 RNA5S2 RNA, 5S ribosomal 2 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 2 RN5S2 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-02 100169753 ENSG00000201588 uc031vql.2 NR_023364 HGNC:34363 +HGNC:34364 RNA5S3 RNA, 5S ribosomal 3 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 3 RN5S3 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-03 100169754 ENSG00000199337 uc031vqm.2 NR_023365 HGNC:34364 +HGNC:34365 RNA5S4 RNA, 5S ribosomal 4 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 4 RN5S4 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-02 100169755 ENSG00000200381 uc031vqn.2 NR_023366 HGNC:34365 +HGNC:34366 RNA5S5 RNA, 5S ribosomal 5 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 5 RN5S5 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-03 100169756 ENSG00000199396 uc031vqo.2 NR_023367 HGNC:34366 +HGNC:34367 RNA5S6 RNA, 5S ribosomal 6 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 6 RN5S6 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-02 100169757 ENSG00000200624 uc031vqp.2 NR_023368 HGNC:34367 +HGNC:34368 RNA5S7 RNA, 5S ribosomal 7 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 7 RN5S7 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-02 100169758 ENSG00000202521 uc031vqq.2 NR_023369 HGNC:34368 +HGNC:34369 RNA5S8 RNA, 5S ribosomal 8 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 8 RN5S8 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-03 100169759 ENSG00000200343 uc031vqr.2 NR_023370 HGNC:34369 +HGNC:34370 RNA5S9 RNA, 5S ribosomal 9 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 9 RN5S9 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-03 100169760 ENSG00000201321 uc031vqs.2 NR_023371 HGNC:34370 +HGNC:34371 RNA5S10 RNA, 5S ribosomal 10 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 10 RN5S10 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-03 100169761 ENSG00000199910 uc031vqt.2 NR_023372 HGNC:34371 +HGNC:34372 RNA5S11 RNA, 5S ribosomal 11 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 11 RN5S11 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-03 100169762 ENSG00000199334 uc057qfe.1 NR_023373 HGNC:34372 +HGNC:34373 RNA5S12 RNA, 5S ribosomal 12 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 12 RN5S12 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-03 100169763 ENSG00000199270 uc057qff.1 NR_023374 HGNC:34373 +HGNC:34374 RNA5S13 RNA, 5S ribosomal 13 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 13 RN5S13 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-02 100169764 ENSG00000202526 uc057qfg.1 NR_023375 HGNC:34374 +HGNC:34375 RNA5S14 RNA, 5S ribosomal 14 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 14 RN5S14 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-02 100169765 ENSG00000201355 uc057qfh.1 NR_023376 HGNC:34375 +HGNC:34376 RNA5S15 RNA, 5S ribosomal 15 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 15 RN5S15 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-02 100169766 ENSG00000201925 uc057qfi.1 NR_023377 HGNC:34376 +HGNC:34377 RNA5S16 RNA, 5S ribosomal 16 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 16 RN5S16 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-02 100169767 ENSG00000202257 uc057qfj.1 NR_023378 HGNC:34377 +HGNC:34378 RNA5S17 RNA, 5S ribosomal 17 non-coding RNA RNA, ribosomal Approved 1q42.13 01q42.13 5S rRNA 17 RN5S17 5S ribosomal RNAs 1380 2008-07-03 2012-08-07 2017-02-03 100169768 ENSG00000200370 uc031vqu.2 NR_023379 HGNC:34378 +HGNC:42586 RNA5SP18 RNA, 5S ribosomal pseudogene 18 pseudogene pseudogene Approved 1q42.13 01q42.13 RN5S18 RNA, 5S ribosomal 18 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873273 ENSG00000212237 uc057qfk.1 NG_033349 HGNC:42586 +HGNC:42587 RNA5SP19 RNA, 5S ribosomal pseudogene 19 pseudogene pseudogene Approved 1q42.13 01q42.13 RN5S19 RNA, 5S ribosomal 19 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873274 ENSG00000202056 uc057qfc.1 NG_033351 HGNC:42587 +HGNC:42588 RNA5SP20 RNA, 5S ribosomal pseudogene 20 pseudogene pseudogene Approved 1p31.1 01p31.1 RN5S20 RNA, 5S ribosomal 20 2011-08-08 2012-08-09 2012-08-09 2014-11-19 100873275 ENSG00000251785 uc057hts.1 NG_033353 HGNC:42588 +HGNC:42589 RNA5SP21 RNA, 5S ribosomal pseudogene 21 pseudogene pseudogene Approved 1p31.1 01p31.1 RN5S21 RNA, 5S ribosomal 21 2011-08-08 2012-08-09 2012-08-09 2014-11-19 100873276 ENSG00000222849 uc057huo.1 NG_033355 HGNC:42589 +HGNC:42590 RNA5SP22 RNA, 5S ribosomal pseudogene 22 pseudogene pseudogene Approved 1p31.1 01p31.1 RN5S22 RNA, 5S ribosomal 22 2011-08-08 2012-08-09 2012-08-09 2014-11-19 100873277 ENSG00000202263 uc021oov.1 NG_033357 HGNC:42590 +HGNC:42591 RNA5SP23 RNA, 5S ribosomal pseudogene 23 pseudogene pseudogene Approved 1p31.1 01p31.1 RN5S23 RNA, 5S ribosomal 23 2011-08-08 2012-08-09 2012-08-09 2014-11-19 100873278 ENSG00000212308 uc057hvs.1 NG_033359 HGNC:42591 +HGNC:42600 RNA5SP24 RNA, 5S ribosomal pseudogene 24 pseudogene pseudogene Approved 13q12.11 13q12.11 RN5S24 RNA, 5S ribosomal 24 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873356 ENSG00000252287 uc058vsj.1 NG_033495 HGNC:42600 +HGNC:42601 RNA5SP25 RNA, 5S ribosomal pseudogene 25 pseudogene pseudogene Approved 13q12.11 13q12.11 RN5S25 RNA, 5S ribosomal 25 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873357 ENSG00000222747 uc058vvn.1 NG_033497 HGNC:42601 +HGNC:42602 RNA5SP26 RNA, 5S ribosomal pseudogene 26 pseudogene pseudogene Approved 13q13.3 13q13.3 RN5S26 RNA, 5S ribosomal 26 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873358 ENSG00000199276 uc058wna.1 NG_029849 HGNC:42602 +HGNC:42603 RNA5SP27 RNA, 5S ribosomal pseudogene 27 pseudogene pseudogene Approved 13q14.13 13q14.13 RN5S27 RNA, 5S ribosomal 27 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873359 ENSG00000200709 uc058wvr.1 NG_033500 HGNC:42603 +HGNC:42604 RNA5SP28 RNA, 5S ribosomal pseudogene 28 pseudogene pseudogene Approved 13q14.3 13q14.3 RN5S28 RNA, 5S ribosomal 28 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873360 ENSG00000200711 uc058xco.1 NG_033502 HGNC:42604 +HGNC:42605 RNA5SP29 RNA, 5S ribosomal pseudogene 29 pseudogene pseudogene Approved 13q14.3 13q14.3 RN5S29 RNA, 5S ribosomal 29 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873361 ENSG00000222920 uc021rjt.1 NG_033504 HGNC:42605 +HGNC:42606 RNA5SP30 RNA, 5S ribosomal pseudogene 30 pseudogene pseudogene Approved 13q21.1 13q21.1 RN5S30 RNA, 5S ribosomal 30 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873362 ENSG00000202422 uc058xid.1 NG_033506 HGNC:42606 +HGNC:42607 RNA5SP31 RNA, 5S ribosomal pseudogene 31 pseudogene pseudogene Approved 13q21.2 13q21.2 RN5S31 RNA, 5S ribosomal 31 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873363 ENSG00000223076 uc058xiu.1 NG_033508 HGNC:42607 +HGNC:42609 RNA5SP33 RNA, 5S ribosomal pseudogene 33 pseudogene pseudogene Approved 13q31.1 13q31.1 RN5S33 RNA, 5S ribosomal 33 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873365 ENSG00000252496 uc058xqx.1 NG_033512 HGNC:42609 +HGNC:42610 RNA5SP34 RNA, 5S ribosomal pseudogene 34 pseudogene pseudogene Approved 13q31.3 13q31.3 RN5S34 RNA, 5S ribosomal 34 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873366 ENSG00000252696 uc058xsp.1 NG_033514 HGNC:42610 +HGNC:42611 RNA5SP35 RNA, 5S ribosomal pseudogene 35 pseudogene pseudogene Approved 13q31.3 13q31.3 RN5S35 RNA, 5S ribosomal 35 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873367 ENSG00000212559 uc021rli.1 NG_011880 HGNC:42611 +HGNC:42612 RNA5SP36 RNA, 5S ribosomal pseudogene 36 pseudogene pseudogene Approved 13q32.1 13q32.1 RN5S36 RNA, 5S ribosomal 36 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873368 ENSG00000222129 uc058xtq.1 NG_033518 HGNC:42612 +HGNC:42613 RNA5SP37 RNA, 5S ribosomal pseudogene 37 pseudogene pseudogene Approved 13q32.1 13q32.1 RN5S37 RNA, 5S ribosomal 37 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873369 ENSG00000202290 uc058xvd.1 NG_033520 HGNC:42613 +HGNC:42614 RNA5SP38 RNA, 5S ribosomal pseudogene 38 pseudogene pseudogene Approved 13q33.2 13q33.2 RN5S38 RNA, 5S ribosomal 38 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873370 ENSG00000222682 uc021rmi.1 NG_033522 HGNC:42614 +HGNC:42615 RNA5SP39 RNA, 5S ribosomal pseudogene 39 pseudogene pseudogene Approved 13q33.3 13q33.3 RN5S39 RNA, 5S ribosomal 39 2011-08-08 2012-08-09 2012-08-09 2012-08-07 100873371 ENSG00000223177 uc058yet.1 NG_029524 HGNC:42615 +HGNC:42816 RNA5SP40 RNA, 5S ribosomal pseudogene 40 pseudogene pseudogene Approved 1p36.22 01p36.22 RN5S40 RNA, 5S ribosomal 40 2011-08-24 2012-08-09 2012-08-09 2014-11-19 100873279 ENSG00000252956 uc021ofx.1 NG_033361 HGNC:42816 +HGNC:42817 RNA5SP41 RNA, 5S ribosomal pseudogene 41 pseudogene pseudogene Approved 1p36.21 01p36.21 RN5S41 RNA, 5S ribosomal 41 2011-08-24 2012-08-09 2012-08-09 2014-11-19 100873280 ENSG00000222952 uc057clm.1 NG_033363 HGNC:42817 +HGNC:42818 RNA5SP42 RNA, 5S ribosomal pseudogene 42 pseudogene pseudogene Approved 1p35.1 01p35.1 RN5S42 RNA, 5S ribosomal 42 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873281 ENSG00000201148 uc057eqn.1 NG_053181 HGNC:42818 +HGNC:42819 RNA5SP43 RNA, 5S ribosomal pseudogene 43 pseudogene pseudogene Approved 1p34.3 01p34.3 RN5S43 RNA, 5S ribosomal 43 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873282 ENSG00000252368 uc057ewb.1 NG_033367 HGNC:42819 +HGNC:42820 RNA5SP44 RNA, 5S ribosomal pseudogene 44 pseudogene pseudogene Approved 1p34.3 01p34.3 RN5S44 RNA, 5S ribosomal 44 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873283 ENSG00000222378 uc021olu.1 NG_050926 HGNC:42820 +HGNC:42821 RNA5SP45 RNA, 5S ribosomal pseudogene 45 pseudogene pseudogene Approved 1p34.2 01p34.2 RN5S45 RNA, 5S ribosomal 45 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873284 ENSG00000252563 uc021ome.1 NG_033371 HGNC:42821 +HGNC:42822 RNA5SP46 RNA, 5S ribosomal pseudogene 46 pseudogene pseudogene Approved 1p34.2 01p34.2 RN5S46 RNA, 5S ribosomal 46 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873285 ENSG00000199240 uc057fme.1 NG_033373 HGNC:42822 +HGNC:42823 RNA5SP47 RNA, 5S ribosomal pseudogene 47 pseudogene pseudogene Approved 1p34.1 01p34.1 RN5S47 RNA, 5S ribosomal 47 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873286 ENSG00000253039 uc057fxd.1 NG_015864 HGNC:42823 +HGNC:42824 RNA5SP48 RNA, 5S ribosomal pseudogene 48 pseudogene pseudogene Approved 1p32.3 01p32.3 RN5S48 RNA, 5S ribosomal 48 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873287 ENSG00000200839 uc057gnd.1 NG_033377 HGNC:42824 +HGNC:42825 RNA5SP49 RNA, 5S ribosomal pseudogene 49 pseudogene pseudogene Approved 1p31.3 01p31.3 RN5S49 RNA, 5S ribosomal 49 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873288 ENSG00000252259 uc057hdx.1 NG_033379 HGNC:42825 +HGNC:42827 RNA5SP50 RNA, 5S ribosomal pseudogene 50 pseudogene pseudogene Approved 1p31.1 01p31.1 RN5S50 RNA, 5S ribosomal 50 2011-08-25 2012-08-09 2012-08-09 2014-11-19 106478992 ENSG00000200601 uc057hpd.1 NG_044035 HGNC:42827 +HGNC:42828 RNA5SP51 RNA, 5S ribosomal pseudogene 51 pseudogene pseudogene Approved 1p22.3 01p22.3 RN5S51 RNA, 5S ribosomal 51 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873289 ENSG00000201620 uc057iav.1 NG_033381 HGNC:42828 +HGNC:42829 RNA5SP52 RNA, 5S ribosomal pseudogene 52 pseudogene pseudogene Approved 1p22.3 01p22.3 RN5S52 RNA, 5S ribosomal 52 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873290 ENSG00000199318 uc021opl.1 NG_033383 HGNC:42829 +HGNC:42830 RNA5SP53 RNA, 5S ribosomal pseudogene 53 pseudogene pseudogene Approved 1p22.1 01p22.1 RN5S53 RNA, 5S ribosomal 53 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873291 ENSG00000212601 uc057ikg.1 NG_033385 HGNC:42830 +HGNC:42831 RNA5SP54 RNA, 5S ribosomal pseudogene 54 pseudogene pseudogene Approved 1p13.3 01p13.3 RN5S54 RNA, 5S ribosomal 54 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873292 ENSG00000252760 uc057jgm.1 NG_033387 HGNC:42831 +HGNC:42832 RNA5SP55 RNA, 5S ribosomal pseudogene 55 pseudogene pseudogene Approved 1p13.1 01p13.1 RN5S55 RNA, 5S ribosomal 55 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873293 ENSG00000252510 uc021osl.1 NG_033389 HGNC:42832 +HGNC:42833 RNA5SP56 RNA, 5S ribosomal pseudogene 56 pseudogene pseudogene Approved 1p12 01p12 RN5S56 RNA, 5S ribosomal 56 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873294 ENSG00000222209 uc057jur.1 NG_033391 HGNC:42833 +HGNC:42834 RNA5SP57 RNA, 5S ribosomal pseudogene 57 pseudogene pseudogene Approved 1q21.1 01q21.1 "RN5S57|RNA5SP58|RN5S58" "RNA, 5S ribosomal 57|RNA, 5S ribosomal pseudogene 58|RNA, 5S ribosomal 58" 2011-08-25 2012-08-09 2012-08-09 2015-03-05 106480754 ENSG00000238765 uc021ovd.1 NG_043828 HGNC:42834 +HGNC:42836 RNA5SP59 RNA, 5S ribosomal pseudogene 59 pseudogene pseudogene Approved 1q21.2 01q21.2 RN5S59 RNA, 5S ribosomal 59 2011-08-25 2012-08-09 2012-08-09 2014-11-19 106480357 ENSG00000222854 uc057jzi.1 NG_044719 HGNC:42836 +HGNC:42837 RNA5SP60 RNA, 5S ribosomal pseudogene 60 pseudogene pseudogene Approved 1q23.2 01q23.2 RN5S60 RNA, 5S ribosomal 60 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873295 ENSG00000222552 uc057mgu.1 NG_033393 HGNC:42837 +HGNC:42838 RNA5SP61 RNA, 5S ribosomal pseudogene 61 pseudogene pseudogene Approved 1q23.3 01q23.3 RN5S61 RNA, 5S ribosomal 61 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873296 ENSG00000252262 uc021pdq.1 NG_033395 HGNC:42838 +HGNC:42839 RNA5SP62 RNA, 5S ribosomal pseudogene 62 pseudogene pseudogene Approved 1q23.3 01q23.3 RN5S62 RNA, 5S ribosomal 62 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873297 ENSG00000200327 uc021pdv.1 NG_033397 HGNC:42839 +HGNC:42840 RNA5SP63 RNA, 5S ribosomal pseudogene 63 pseudogene pseudogene Approved 1q23.3 01q23.3 RN5S63 RNA, 5S ribosomal 63 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873298 ENSG00000212527 uc021pdw.1 NG_033399 HGNC:42840 +HGNC:42841 RNA5SP64 RNA, 5S ribosomal pseudogene 64 pseudogene pseudogene Approved 1q24.1 01q24.1 RN5S64 RNA, 5S ribosomal 64 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873299 ENSG00000207341 uc057mzt.1 NG_033401 HGNC:42841 +HGNC:42842 RNA5SP65 RNA, 5S ribosomal pseudogene 65 pseudogene pseudogene Approved 1q24.1 01q24.1 RN5S65 RNA, 5S ribosomal 65 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873300 ENSG00000200036 uc057nap.1 NG_033403 HGNC:42842 +HGNC:42843 RNA5SP66 RNA, 5S ribosomal pseudogene 66 pseudogene pseudogene Approved 1q24.2 01q24.2 RN5S66 RNA, 5S ribosomal 66 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873301 ENSG00000252987 uc057ndf.1 NG_033405 HGNC:42843 +HGNC:42844 RNA5SP67 RNA, 5S ribosomal pseudogene 67 pseudogene pseudogene Approved 1q25.1 01q25.1 RN5S67 RNA, 5S ribosomal 67 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873302 ENSG00000252231 uc057nkv.1 NG_033407 HGNC:42844 +HGNC:42845 RNA5SP68 RNA, 5S ribosomal pseudogene 68 pseudogene pseudogene Approved 1q25.1 01q25.1 RN5S68 RNA, 5S ribosomal 68 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873303 ENSG00000200755 uc057nkz.1 NG_033409 HGNC:42845 +HGNC:42846 RNA5SP69 RNA, 5S ribosomal pseudogene 69 pseudogene pseudogene Approved 1q25.2 01q25.2 RN5S69 RNA, 5S ribosomal 69 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873304 ENSG00000201347 uc057nop.1 NG_033411 HGNC:42846 +HGNC:42847 RNA5SP70 RNA, 5S ribosomal pseudogene 70 pseudogene pseudogene Approved 1q25.3 01q25.3 RN5S70 RNA, 5S ribosomal 70 2011-08-25 2012-08-09 2012-08-09 2014-11-19 106480436 ENSG00000252977 uc021pft.1 NG_045410 HGNC:42847 +HGNC:42848 RNA5SP71 RNA, 5S ribosomal pseudogene 71 pseudogene pseudogene Approved 1q25.3 01q25.3 RN5S71 RNA, 5S ribosomal 71 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873305 ENSG00000199837 uc057nuz.1 NG_051596 HGNC:42848 +HGNC:42849 RNA5SP72 RNA, 5S ribosomal pseudogene 72 pseudogene pseudogene Approved 1q25.3 01q25.3 RN5S72 RNA, 5S ribosomal 72 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873306 ENSG00000201312 uc057nxl.1 NG_033415 HGNC:42849 +HGNC:42850 RNA5SP73 RNA, 5S ribosomal pseudogene 73 pseudogene pseudogene Approved 1q31.1 01q31.1 RN5S73 RNA, 5S ribosomal 73 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873307 ENSG00000252553 uc057oad.1 NG_033417 HGNC:42850 +HGNC:42851 RNA5SP74 RNA, 5S ribosomal pseudogene 74 pseudogene pseudogene Approved 1q32.1 01q32.1 RN5S74 RNA, 5S ribosomal 74 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873308 ENSG00000200408 uc057orf.1 NG_033419 HGNC:42851 +HGNC:42852 RNA5SP75 RNA, 5S ribosomal pseudogene 75 pseudogene pseudogene Approved 1q32.1 01q32.1 RN5S75 RNA, 5S ribosomal 75 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873309 ENSG00000252650 uc021phz.1 NG_033421 HGNC:42852 +HGNC:42853 RNA5SP76 RNA, 5S ribosomal pseudogene 76 pseudogene pseudogene Approved 1q41 01q41 RN5S76 RNA, 5S ribosomal 76 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873310 ENSG00000252086 uc057pmz.1 NG_033423 HGNC:42853 +HGNC:42854 RNA5SP77 RNA, 5S ribosomal pseudogene 77 pseudogene pseudogene Approved 1q42.13 01q42.13 RN5S77 RNA, 5S ribosomal 77 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873311 ENSG00000202264 uc057qaa.1 NG_033425 HGNC:42854 +HGNC:42855 RNA5SP78 RNA, 5S ribosomal pseudogene 78 pseudogene pseudogene Approved 1q42.13 01q42.13 RN5S78 RNA, 5S ribosomal 78 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873312 ENSG00000201492 uc057qgi.1 NG_033427 HGNC:42855 +HGNC:42856 RNA5SP79 RNA, 5S ribosomal pseudogene 79 pseudogene pseudogene Approved 1q42.2 01q42.2 RN5S79 RNA, 5S ribosomal 79 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873313 ENSG00000202063 uc057qhl.1 NG_033429 HGNC:42856 +HGNC:42857 RNA5SP80 RNA, 5S ribosomal pseudogene 80 pseudogene pseudogene Approved 1q42.2 01q42.2 RN5S80 RNA, 5S ribosomal 80 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873314 ENSG00000222407 uc057qir.1 NG_033431 HGNC:42857 +HGNC:42859 RNA5SP82 RNA, 5S ribosomal pseudogene 82 pseudogene pseudogene Approved 1q44 01q44 RN5S82 RNA, 5S ribosomal 82 2011-08-25 2012-08-09 2012-08-09 2014-11-19 100873316 ENSG00000252516 uc057qzy.1 NG_033435 HGNC:42859 +HGNC:42882 RNA5SP84 RNA, 5S ribosomal pseudogene 84 pseudogene pseudogene Approved 2p25.1 02p25.1 RN5S84 RNA, 5S ribosomal 84 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873317 ENSG00000201610 uc061gsp.1 NG_033437 HGNC:42882 +HGNC:42883 RNA5SP85 RNA, 5S ribosomal pseudogene 85 pseudogene pseudogene Approved 2p25.1 02p25.1 RN5S85 RNA, 5S ribosomal 85 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873318 ENSG00000202248 uc061gst.1 NG_029429 HGNC:42883 +HGNC:42884 RNA5SP86 RNA, 5S ribosomal pseudogene 86 pseudogene pseudogene Approved 2p24.1 02p24.1 RN5S86 RNA, 5S ribosomal 86 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873319 ENSG00000212171 uc061gyu.1 NG_033441 HGNC:42884 +HGNC:42885 RNA5SP87 RNA, 5S ribosomal pseudogene 87 pseudogene pseudogene Approved 2p24.1 02p24.1 RN5S87 RNA, 5S ribosomal 87 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873320 ENSG00000206882 uc061haf.1 NG_033443 HGNC:42885 +HGNC:42886 RNA5SP88 RNA, 5S ribosomal pseudogene 88 pseudogene pseudogene Approved 2p23.3 02p23.3 RN5S88 RNA, 5S ribosomal 88 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873321 ENSG00000202430 uc061hda.1 NG_029014 HGNC:42886 +HGNC:42887 RNA5SP89 RNA, 5S ribosomal pseudogene 89 pseudogene pseudogene Approved 2p23.2 02p23.2 RN5S89 RNA, 5S ribosomal 89 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873322 ENSG00000222232 uc021vfh.1 NG_033448 HGNC:42887 +HGNC:42888 RNA5SP90 RNA, 5S ribosomal pseudogene 90 pseudogene pseudogene Approved 2p23.1 02p23.1 RN5S90 RNA, 5S ribosomal 90 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873323 ENSG00000201671 uc021vfo.1 NG_033450 HGNC:42888 +HGNC:42889 RNA5SP91 RNA, 5S ribosomal pseudogene 91 pseudogene pseudogene Approved 2p22.3 02p22.3 RN5S91 RNA, 5S ribosomal 91 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873324 ENSG00000212204 uc021vfu.1 NG_033452 HGNC:42889 +HGNC:42890 RNA5SP92 RNA, 5S ribosomal pseudogene 92 pseudogene pseudogene Approved 2p22.3 02p22.3 RN5S92 RNA, 5S ribosomal 92 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873325 ENSG00000252246 uc061hzg.1 NG_033454 HGNC:42890 +HGNC:42891 RNA5SP93 RNA, 5S ribosomal pseudogene 93 pseudogene pseudogene Approved 2p16.1 02p16.1 RN5S93 RNA, 5S ribosomal 93 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873326 ENSG00000199395 uc021vhy.1 NG_033456 HGNC:42891 +HGNC:42892 RNA5SP94 RNA, 5S ribosomal pseudogene 94 pseudogene pseudogene Approved 2p16.1 02p16.1 RN5S94 RNA, 5S ribosomal 94 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873327 ENSG00000252726 uc021vib.1 NG_033458 HGNC:42892 +HGNC:42893 RNA5SP95 RNA, 5S ribosomal pseudogene 95 pseudogene pseudogene Approved 2p16.1 02p16.1 RN5S95 RNA, 5S ribosomal 95 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873328 ENSG00000222251 uc061jlp.1 NG_033460 HGNC:42893 +HGNC:42894 RNA5SP96 RNA, 5S ribosomal pseudogene 96 pseudogene pseudogene Approved 2p13.3 02p13.3 RN5S96 RNA, 5S ribosomal 96 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873329 ENSG00000251850 uc061jzg.1 NG_012649 HGNC:42894 +HGNC:42895 RNA5SP97 RNA, 5S ribosomal pseudogene 97 pseudogene pseudogene Approved 2p13.1 02p13.1 RN5S97 RNA, 5S ribosomal 97 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873330 ENSG00000201876 uc021vjl.1 NG_033464 HGNC:42895 +HGNC:42896 RNA5SP98 RNA, 5S ribosomal pseudogene 98 pseudogene pseudogene Approved 2p12 02p12 RN5S98 RNA, 5S ribosomal 98 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873331 ENSG00000200028 uc021vjp.1 NG_053082 HGNC:42896 +HGNC:42897 RNA5SP99 RNA, 5S ribosomal pseudogene 99 pseudogene pseudogene Approved 2p12 02p12 RN5S99 RNA, 5S ribosomal 99 2011-09-05 2012-08-09 2012-08-09 2014-11-19 106478993 ENSG00000200890 uc021vju.1 NG_044042 HGNC:42897 +HGNC:42898 RNA5SP100 RNA, 5S ribosomal pseudogene 100 pseudogene pseudogene Approved 2p11.1 02p11.1 RN5S100 RNA, 5S ribosomal 100 2011-09-05 2012-08-09 2012-08-09 2014-11-19 106480755 ENSG00000222835 uc061lsi.1 NG_043836 HGNC:42898 +HGNC:42899 RNA5SP101 RNA, 5S ribosomal pseudogene 101 pseudogene pseudogene Approved 2q11.2 02q11.2 RN5S101 RNA, 5S ribosomal 101 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873372 ENSG00000252845 uc061lyc.1 NG_033526 HGNC:42899 +HGNC:42900 RNA5SP102 RNA, 5S ribosomal pseudogene 102 pseudogene pseudogene Approved 2q14.3 02q14.3 RN5S102 RNA, 5S ribosomal 102 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873373 ENSG00000252674 uc061nmy.1 NG_033528 HGNC:42900 +HGNC:42901 RNA5SP103 RNA, 5S ribosomal pseudogene 103 pseudogene pseudogene Approved 2q14.3 02q14.3 RN5S103 RNA, 5S ribosomal 103 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873374 ENSG00000238379 uc061nrv.1 NG_033530 HGNC:42901 +HGNC:42902 RNA5SP104 RNA, 5S ribosomal pseudogene 104 pseudogene pseudogene Approved 2q21.2 02q21.2 RN5S104 RNA, 5S ribosomal 104 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873375 ENSG00000222921 uc061nyi.1 NG_033532 HGNC:42902 +HGNC:42903 RNA5SP105 RNA, 5S ribosomal pseudogene 105 pseudogene pseudogene Approved 2q22.1 02q22.1 RN5S105 RNA, 5S ribosomal 105 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873376 ENSG00000212425 uc021vqb.1 NG_033534 HGNC:42903 +HGNC:42904 RNA5SP106 RNA, 5S ribosomal pseudogene 106 pseudogene pseudogene Approved 2q22.3 02q22.3 RN5S106 RNA, 5S ribosomal 106 2011-09-05 2012-08-09 2012-08-09 2014-11-19 106478994 ENSG00000253083 uc021vqp.1 NG_044053 HGNC:42904 +HGNC:42905 RNA5SP107 RNA, 5S ribosomal pseudogene 107 pseudogene pseudogene Approved 2q24.1 02q24.1 RN5S107 RNA, 5S ribosomal 107 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873377 ENSG00000223290 uc061osa.1 NG_033536 HGNC:42905 +HGNC:42906 RNA5SP108 RNA, 5S ribosomal pseudogene 108 pseudogene pseudogene Approved 2q24.2 02q24.2 RN5S108 RNA, 5S ribosomal 108 2011-09-05 2012-08-09 2012-08-09 2015-01-30 100873378 ENSG00000271924 uc061oyy.1 NG_033538 HGNC:42906 +HGNC:42907 RNA5SP109 RNA, 5S ribosomal pseudogene 109 pseudogene pseudogene Approved 2q24.2 02q24.2 RN5S109 RNA, 5S ribosomal 109 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873379 ENSG00000212312 uc021vrv.1 NG_033540 HGNC:42907 +HGNC:42908 RNA5SP110 RNA, 5S ribosomal pseudogene 110 pseudogene pseudogene Approved 2q24.3 02q24.3 RN5S110 RNA, 5S ribosomal 110 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873380 ENSG00000199508 uc061pcr.1 NG_033542 HGNC:42908 +HGNC:42909 RNA5SP111 RNA, 5S ribosomal pseudogene 111 pseudogene pseudogene Approved 2q24.3 02q24.3 RN5S111 RNA, 5S ribosomal 111 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873381 ENSG00000223318 uc021vrx.1 NG_033544 HGNC:42909 +HGNC:42910 RNA5SP112 RNA, 5S ribosomal pseudogene 112 pseudogene pseudogene Approved 2q31.2 02q31.2 RN5S112 RNA, 5S ribosomal 112 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873382 ENSG00000251746 uc061pzs.1 NG_033546 HGNC:42910 +HGNC:42911 RNA5SP113 RNA, 5S ribosomal pseudogene 113 pseudogene pseudogene Approved 2q31.3 02q31.3 RN5S113 RNA, 5S ribosomal 113 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873383 ENSG00000222418 uc021vtp.1 NG_033548 HGNC:42911 +HGNC:42912 RNA5SP114 RNA, 5S ribosomal pseudogene 114 pseudogene pseudogene Approved 2q32.1 02q32.1 RN5S114 RNA, 5S ribosomal 114 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873384 ENSG00000200650 uc061qnf.1 NG_033550 HGNC:42912 +HGNC:42913 RNA5SP115 RNA, 5S ribosomal pseudogene 115 pseudogene pseudogene Approved 2q33.1 02q33.1 RN5S115 RNA, 5S ribosomal 115 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873385 ENSG00000223092 uc061rft.1 NG_033552 HGNC:42913 +HGNC:42914 RNA5SP116 RNA, 5S ribosomal pseudogene 116 pseudogene pseudogene Approved 2q33.3 02q33.3 RN5S116 RNA, 5S ribosomal 116 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873386 ENSG00000251941 uc061rwl.1 NG_033554 HGNC:42914 +HGNC:42915 RNA5SP117 RNA, 5S ribosomal pseudogene 117 pseudogene pseudogene Approved 2q34 02q34 RN5S117 RNA, 5S ribosomal 117 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873387 ENSG00000202164 uc061rxi.1 NG_033556 HGNC:42915 +HGNC:42916 RNA5SP118 RNA, 5S ribosomal pseudogene 118 pseudogene pseudogene Approved 2q34 02q34 RN5S118 RNA, 5S ribosomal 118 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873388 ENSG00000222317 uc021vvw.1 NG_052836 HGNC:42916 +HGNC:42917 RNA5SP119 RNA, 5S ribosomal pseudogene 119 pseudogene pseudogene Approved 2q34 02q34 RN5S119 RNA, 5S ribosomal 119 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873389 ENSG00000199585 uc061rzs.1 NG_011805 HGNC:42917 +HGNC:42918 RNA5SP120 RNA, 5S ribosomal pseudogene 120 pseudogene pseudogene Approved 2q35 02q35 RN5S120 RNA, 5S ribosomal 120 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873390 ENSG00000222832 uc061sgj.1 NG_033562 HGNC:42918 +HGNC:42919 RNA5SP121 RNA, 5S ribosomal pseudogene 121 pseudogene pseudogene Approved 2q36.3 02q36.3 RN5S121 RNA, 5S ribosomal 121 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873391 ENSG00000252346 uc061tgl.1 NG_033564 HGNC:42919 +HGNC:42920 RNA5SP122 RNA, 5S ribosomal pseudogene 122 pseudogene pseudogene Approved 2q37.3 02q37.3 RN5S122 RNA, 5S ribosomal 122 2011-09-05 2012-08-09 2012-08-09 2014-11-19 100873392 ENSG00000207186 uc061urx.1 NG_033566 HGNC:42920 +HGNC:43023 RNA5SP123 RNA, 5S ribosomal pseudogene 123 pseudogene pseudogene Approved 3p25.2 03p25.2 RN5S123 RNA, 5S ribosomal 123 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873393 ENSG00000200114 uc062gvj.1 NG_011521 HGNC:43023 +HGNC:43024 RNA5SP124 RNA, 5S ribosomal pseudogene 124 pseudogene pseudogene Approved 3p25.1 03p25.1 RN5S124 RNA, 5S ribosomal 124 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873394 ENSG00000199609 uc062gzp.1 NG_033570 HGNC:43024 +HGNC:43025 RNA5SP125 RNA, 5S ribosomal pseudogene 125 pseudogene pseudogene Approved 3p24.2 03p24.2 RN5S125 RNA, 5S ribosomal 125 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873395 ENSG00000201713 uc021wuf.1 NG_029013 HGNC:43025 +HGNC:43026 RNA5SP126 RNA, 5S ribosomal pseudogene 126 pseudogene pseudogene Approved 3p24.2 03p24.2 RN5S126 RNA, 5S ribosomal 126 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873396 ENSG00000201962 uc062hoo.1 NG_029013 HGNC:43026 +HGNC:43027 RNA5SP127 RNA, 5S ribosomal pseudogene 127 pseudogene pseudogene Approved 3p23 03p23 RN5S127 RNA, 5S ribosomal 127 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873397 ENSG00000222983 uc062hth.1 NG_033576 HGNC:43027 +HGNC:43028 RNA5SP128 RNA, 5S ribosomal pseudogene 128 pseudogene pseudogene Approved 3p22.3 03p22.3 RN5S128 RNA, 5S ribosomal 128 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873398 ENSG00000202175 uc021wuz.1 NG_033578 HGNC:43028 +HGNC:43029 RNA5SP129 RNA, 5S ribosomal pseudogene 129 pseudogene pseudogene Approved 3p22.2 03p22.2 RN5S129 RNA, 5S ribosomal 129 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873399 ENSG00000222208 uc062icy.1 NG_033580 HGNC:43029 +HGNC:43030 RNA5SP130 RNA, 5S ribosomal pseudogene 130 pseudogene pseudogene Approved 3p21.31 03p21.31 RN5S130 RNA, 5S ribosomal 130 2011-10-07 2012-08-09 2012-08-09 2014-11-19 106478995 ENSG00000201301 uc062juj.1 NG_013230 HGNC:43030 +HGNC:43031 RNA5SP131 RNA, 5S ribosomal pseudogene 131 pseudogene pseudogene Approved 3p21.31 03p21.31 RN5S131 RNA, 5S ribosomal 131 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873400 ENSG00000202322 uc021wyq.1 NG_033582 HGNC:43031 +HGNC:43032 RNA5SP132 RNA, 5S ribosomal pseudogene 132 pseudogene pseudogene Approved 3p21.2 03p21.2 RN5S132 RNA, 5S ribosomal 132 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873401 ENSG00000201595 uc032rnr.2 NG_033584 HGNC:43032 +HGNC:43033 RNA5SP133 RNA, 5S ribosomal pseudogene 133 pseudogene pseudogene Approved 3p14.3 03p14.3 RN5S133 RNA, 5S ribosomal 133 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873402 ENSG00000200238 uc021wzq.1 NG_033586 HGNC:43033 +HGNC:43034 RNA5SP134 RNA, 5S ribosomal pseudogene 134 pseudogene pseudogene Approved 3p14.2 03p14.2 RN5S134 RNA, 5S ribosomal 134 2011-10-07 2012-08-09 2012-08-09 2014-11-19 106480756 ENSG00000252301 uc021wzx.1 NG_045596 HGNC:43034 +HGNC:43035 RNA5SP135 RNA, 5S ribosomal pseudogene 135 pseudogene pseudogene Approved 3p14.1 03p14.1 RN5S135 RNA, 5S ribosomal 135 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873403 ENSG00000252828 uc021xai.1 NG_033588 HGNC:43035 +HGNC:43036 RNA5SP136 RNA, 5S ribosomal pseudogene 136 pseudogene pseudogene Approved 3p13 03p13 RN5S136 RNA, 5S ribosomal 136 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873404 ENSG00000222838 uc062lng.1 NG_033590 HGNC:43036 +HGNC:43037 RNA5SP137 RNA, 5S ribosomal pseudogene 137 pseudogene pseudogene Approved 3q21.2 03q21.2 RN5S137 RNA, 5S ribosomal 137 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873405 ENSG00000252642 uc021xde.1 NG_033593 HGNC:43037 +HGNC:43038 RNA5SP138 RNA, 5S ribosomal pseudogene 138 pseudogene pseudogene Approved 3q21.3 03q21.3 RN5S138 RNA, 5S ribosomal 138 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873406 ENSG00000201968 uc062nkz.1 NG_033595 HGNC:43038 +HGNC:43039 RNA5SP139 RNA, 5S ribosomal pseudogene 139 pseudogene pseudogene Approved 3q21.3 03q21.3 RN5S139 RNA, 5S ribosomal 139 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873407 ENSG00000201210 uc021xdi.1 NG_033597 HGNC:43039 +HGNC:43040 RNA5SP140 RNA, 5S ribosomal pseudogene 140 pseudogene pseudogene Approved 3q22.1 03q22.1 RN5S140 RNA, 5S ribosomal 140 2011-10-07 2012-08-09 2012-08-09 2014-11-19 106478996 ENSG00000201394 uc021xeg.1 NG_013080 HGNC:43040 +HGNC:43041 RNA5SP141 RNA, 5S ribosomal pseudogene 141 pseudogene pseudogene Approved 3q22.2 03q22.2 RN5S141 RNA, 5S ribosomal 141 2011-10-07 2012-08-09 2012-08-09 2019-08-07 100873408 ENSG00000201413 uc062ocg.1 NG_033599 29180807 HGNC:43041 +HGNC:43042 RNA5SP142 RNA, 5S ribosomal pseudogene 142 pseudogene pseudogene Approved 3q22.3 03q22.3 RN5S142 RNA, 5S ribosomal 142 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873409 ENSG00000201325 uc021xeo.1 NG_033601 HGNC:43042 +HGNC:43043 RNA5SP143 RNA, 5S ribosomal pseudogene 143 pseudogene pseudogene Approved 3q23 03q23 RN5S143 RNA, 5S ribosomal 143 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873410 ENSG00000252745 uc021xev.1 NG_033603 HGNC:43043 +HGNC:43044 RNA5SP144 RNA, 5S ribosomal pseudogene 144 pseudogene pseudogene Approved 3q24 03q24 RN5S144 RNA, 5S ribosomal 144 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873411 ENSG00000222778 uc062ort.1 NG_033605 HGNC:43044 +HGNC:43045 RNA5SP145 RNA, 5S ribosomal pseudogene 145 pseudogene pseudogene Approved 3q25.1 03q25.1 RN5S145 RNA, 5S ribosomal 145 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873412 ENSG00000199994 uc021xfx.1 NG_033607 HGNC:43045 +HGNC:43046 RNA5SP146 RNA, 5S ribosomal pseudogene 146 pseudogene pseudogene Approved 3q25.31 03q25.31 RN5S146 RNA, 5S ribosomal 146 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873413 ENSG00000222675 uc062pii.1 NG_033609 HGNC:43046 +HGNC:43047 RNA5SP147 RNA, 5S ribosomal pseudogene 147 pseudogene pseudogene Approved 3q26.32 03q26.32 RN5S147 RNA, 5S ribosomal 147 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873414 ENSG00000252302 uc062qbp.1 NG_033611 HGNC:43047 +HGNC:43048 RNA5SP148 RNA, 5S ribosomal pseudogene 148 pseudogene pseudogene Approved 3q26.32 03q26.32 RN5S148 RNA, 5S ribosomal 148 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873415 ENSG00000252336 uc062qdi.1 NG_033613 HGNC:43048 +HGNC:43049 RNA5SP149 RNA, 5S ribosomal pseudogene 149 pseudogene pseudogene Approved 3q26.33 03q26.33 RN5S149 RNA, 5S ribosomal 149 2011-10-07 2012-08-09 2012-08-09 2014-11-19 106480437 ENSG00000201822 uc062qgt.1 NG_043353 HGNC:43049 +HGNC:43050 RNA5SP150 RNA, 5S ribosomal pseudogene 150 pseudogene pseudogene Approved 3q26.33 03q26.33 RN5S150 RNA, 5S ribosomal 150 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873416 ENSG00000199839 uc062qkv.1 NG_033615 HGNC:43050 +HGNC:43051 RNA5SP151 RNA, 5S ribosomal pseudogene 151 pseudogene pseudogene Approved 3q27.1 03q27.1 RN5S151 RNA, 5S ribosomal 151 2011-10-07 2012-08-09 2012-08-09 2014-11-19 100873417 ENSG00000202502 uc062qod.1 NG_033617 HGNC:43051 +HGNC:43052 RNA5SP152 RNA, 5S ribosomal pseudogene 152 pseudogene pseudogene Approved 4p16.1 04p16.1 RN5S152 RNA, 5S ribosomal 152 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873418 ENSG00000202054 uc062vbm.1 NG_033619 HGNC:43052 +HGNC:43053 RNA5SP153 RNA, 5S ribosomal pseudogene 153 pseudogene pseudogene Approved 4p16.1 04p16.1 RN5S153 RNA, 5S ribosomal 153 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873419 ENSG00000252307 uc062vde.1 NG_033621 HGNC:43053 +HGNC:43054 RNA5SP154 RNA, 5S ribosomal pseudogene 154 pseudogene pseudogene Approved 4p16.1 04p16.1 RN5S154 RNA, 5S ribosomal 154 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873420 ENSG00000252002 uc062vdj.1 NG_033623 HGNC:43054 +HGNC:43055 RNA5SP155 RNA, 5S ribosomal pseudogene 155 pseudogene pseudogene Approved 4p16.1 04p16.1 RN5S155 RNA, 5S ribosomal 155 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873421 ENSG00000223086 uc021xlz.1 NG_027876 HGNC:43055 +HGNC:43056 RNA5SP156 RNA, 5S ribosomal pseudogene 156 pseudogene pseudogene Approved 4p15.33 04p15.33 RN5S156 RNA, 5S ribosomal 156 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873422 ENSG00000222182 uc062veu.1 NG_033627 HGNC:43056 +HGNC:43057 RNA5SP157 RNA, 5S ribosomal pseudogene 157 pseudogene pseudogene Approved 4p15.31 04p15.31 RN5S157 RNA, 5S ribosomal 157 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873423 ENSG00000251816 uc062vmg.1 NG_033629 HGNC:43057 +HGNC:43058 RNA5SP158 RNA, 5S ribosomal pseudogene 158 pseudogene pseudogene Approved 4p14 04p14 RN5S158 RNA, 5S ribosomal 158 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873424 ENSG00000222230 uc062vyd.1 NG_033631 HGNC:43058 +HGNC:43059 RNA5SP159 RNA, 5S ribosomal pseudogene 159 pseudogene pseudogene Approved 4p14 04p14 RN5S159 RNA, 5S ribosomal 159 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873425 ENSG00000252970 uc062wcf.1 NG_033633 HGNC:43059 +HGNC:43060 RNA5SP160 RNA, 5S ribosomal pseudogene 160 pseudogene pseudogene Approved 4p14 04p14 RN5S160 RNA, 5S ribosomal 160 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873426 ENSG00000201736 uc062weq.1 NG_013337 HGNC:43060 +HGNC:43061 RNA5SP161 RNA, 5S ribosomal pseudogene 161 pseudogene pseudogene Approved 4q12 04q12 RN5S161 RNA, 5S ribosomal 161 2011-10-10 2012-08-09 2012-08-09 2014-11-19 106480757 ENSG00000200741 uc032tjy.2 NG_043849 HGNC:43061 +HGNC:43062 RNA5SP162 RNA, 5S ribosomal pseudogene 162 pseudogene pseudogene Approved 4q12 04q12 RN5S162 RNA, 5S ribosomal 162 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873427 ENSG00000251823 uc031vqj.2 NG_033637 HGNC:43062 +HGNC:43063 RNA5SP163 RNA, 5S ribosomal pseudogene 163 pseudogene pseudogene Approved 4q13.3 04q13.3 RN5S163 RNA, 5S ribosomal 163 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873428 ENSG00000222236 uc062xep.1 NG_012837 HGNC:43063 +HGNC:43064 RNA5SP164 RNA, 5S ribosomal pseudogene 164 pseudogene pseudogene Approved 4q22.2 04q22.2 RN5S164 RNA, 5S ribosomal 164 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873429 ENSG00000252342 uc062ygh.1 NG_033641 HGNC:43064 +HGNC:43065 RNA5SP165 RNA, 5S ribosomal pseudogene 165 pseudogene pseudogene Approved 4q31.23 04q31.23 RN5S165 RNA, 5S ribosomal 165 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873430 ENSG00000252951 uc063acn.1 NG_033643 HGNC:43065 +HGNC:43066 RNA5SP166 RNA, 5S ribosomal pseudogene 166 pseudogene pseudogene Approved 4q31.23 04q31.23 RN5S166 RNA, 5S ribosomal 166 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873431 ENSG00000201846 uc021xsq.1 NG_033645 HGNC:43066 +HGNC:43067 RNA5SP167 RNA, 5S ribosomal pseudogene 167 pseudogene pseudogene Approved 4q31.23 04q31.23 RN5S167 RNA, 5S ribosomal 167 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873432 ENSG00000202331 uc063ado.1 NG_033647 HGNC:43067 +HGNC:43068 RNA5SP168 RNA, 5S ribosomal pseudogene 168 pseudogene pseudogene Approved 4q31.3 04q31.3 RN5S168 RNA, 5S ribosomal 168 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873433 ENSG00000252451 uc063aec.1 NG_032855 HGNC:43068 +HGNC:43069 RNA5SP169 RNA, 5S ribosomal pseudogene 169 pseudogene pseudogene Approved 4q31.3 04q31.3 RN5S169 RNA, 5S ribosomal 169 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873434 ENSG00000253077 uc063age.1 NG_033651 HGNC:43069 +HGNC:43070 RNA5SP170 RNA, 5S ribosomal pseudogene 170 pseudogene pseudogene Approved 4q32.3 04q32.3 RN5S170 RNA, 5S ribosomal 170 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873435 ENSG00000252959 uc063aue.1 NG_016278 HGNC:43070 +HGNC:43071 RNA5SP171 RNA, 5S ribosomal pseudogene 171 pseudogene pseudogene Approved 4q32.3 04q32.3 RN5S171 RNA, 5S ribosomal 171 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873436 ENSG00000212373 uc021xug.1 NG_030414 HGNC:43071 +HGNC:43072 RNA5SP172 RNA, 5S ribosomal pseudogene 172 pseudogene pseudogene Approved 4q34.3 04q34.3 RN5S172 RNA, 5S ribosomal 172 2011-10-10 2012-08-09 2012-08-09 2014-11-19 106478997 ENSG00000201931 uc063bee.1 NG_045128 HGNC:43072 +HGNC:43073 RNA5SP173 RNA, 5S ribosomal pseudogene 173 pseudogene pseudogene Approved 4q34.3 04q34.3 RN5S173 RNA, 5S ribosomal 173 2011-10-10 2012-08-09 2012-08-09 2014-11-19 100873437 ENSG00000201727 uc063bej.1 NG_033657 HGNC:43073 +HGNC:43074 RNA5SP174 RNA, 5S ribosomal pseudogene 174 pseudogene pseudogene Approved 4q35.2 04q35.2 RN5S174 RNA, 5S ribosomal 174 2011-10-10 2012-08-09 2012-08-09 2014-11-19 106478998 ENSG00000199572 uc063brh.1 NG_045132 HGNC:43074 +HGNC:43075 RNA5SP175 RNA, 5S ribosomal pseudogene 175 pseudogene pseudogene Approved 4q35.2 04q35.2 RN5S175 RNA, 5S ribosomal 175 2011-10-10 2012-08-09 2012-08-09 2014-11-19 106480758 ENSG00000201145 uc063bri.1 NG_045100 HGNC:43075 +HGNC:43076 RNA5SP176 RNA, 5S ribosomal pseudogene 176 pseudogene pseudogene Approved 5p15.31 05p15.31 RN5S176 RNA, 5S ribosomal 176 2011-10-13 2012-08-09 2012-08-09 2014-11-19 100873438 ENSG00000212258 uc063cdj.1 NG_033659 HGNC:43076 +HGNC:43077 RNA5SP177 RNA, 5S ribosomal pseudogene 177 pseudogene pseudogene Approved 5p15.31 05p15.31 RN5S177 RNA, 5S ribosomal 177 2011-10-13 2012-08-09 2012-08-09 2014-11-19 100873439 ENSG00000222054 uc021xwn.1 NG_033661 HGNC:43077 +HGNC:43078 RNA5SP178 RNA, 5S ribosomal pseudogene 178 pseudogene pseudogene Approved 5p15.1 05p15.1 RN5S178 RNA, 5S ribosomal 178 2011-10-13 2012-08-09 2012-08-09 2014-11-19 100873440 ENSG00000222312 uc063cmf.1 NG_033663 HGNC:43078 +HGNC:43079 RNA5SP179 RNA, 5S ribosomal pseudogene 179 pseudogene pseudogene Approved 5p15.1 05p15.1 RN5S179 RNA, 5S ribosomal 179 2011-10-13 2012-08-09 2012-08-09 2014-11-19 100873441 ENSG00000253093 uc063cnb.1 NG_033665 HGNC:43079 +HGNC:43080 RNA5SP180 RNA, 5S ribosomal pseudogene 180 pseudogene pseudogene Approved 5p15.1 05p15.1 RN5S180 RNA, 5S ribosomal 180 2011-10-13 2012-08-09 2012-08-09 2014-11-19 100873442 ENSG00000251990 uc063cng.1 NG_033667 HGNC:43080 +HGNC:43081 RNA5SP181 RNA, 5S ribosomal pseudogene 181 pseudogene pseudogene Approved 5p13.2 05p13.2 RN5S181 RNA, 5S ribosomal 181 2011-10-13 2012-08-09 2012-08-09 2014-11-19 100873443 ENSG00000222178 uc063czw.1 NG_033669 HGNC:43081 +HGNC:43082 RNA5SP182 RNA, 5S ribosomal pseudogene 182 pseudogene pseudogene Approved 5q11.2 05q11.2 RN5S182 RNA, 5S ribosomal 182 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873444 ENSG00000251873 uc063dmo.1 NG_033671 HGNC:43082 +HGNC:43083 RNA5SP183 RNA, 5S ribosomal pseudogene 183 pseudogene pseudogene Approved 5q11.2 05q11.2 RN5S183 RNA, 5S ribosomal 183 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873445 ENSG00000199322 uc063drs.1 NG_033673 HGNC:43083 +HGNC:43084 RNA5SP184 RNA, 5S ribosomal pseudogene 184 pseudogene pseudogene Approved 5q11.2 05q11.2 RN5S184 RNA, 5S ribosomal 184 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873446 ENSG00000223003 uc063dsq.1 NG_033675 HGNC:43084 +HGNC:43085 RNA5SP185 RNA, 5S ribosomal pseudogene 185 pseudogene pseudogene Approved 5q11.2 05q11.2 RN5S185 RNA, 5S ribosomal 185 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873447 ENSG00000212265 uc063dss.1 NG_033677 HGNC:43085 +HGNC:43086 RNA5SP186 RNA, 5S ribosomal pseudogene 186 pseudogene pseudogene Approved 5q13.3 05q13.3 RN5S186 RNA, 5S ribosomal 186 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873448 ENSG00000252833 uc063erh.1 NG_033679 HGNC:43086 +HGNC:43087 RNA5SP187 RNA, 5S ribosomal pseudogene 187 pseudogene pseudogene Approved 5q14.3 05q14.3 RN5S187 RNA, 5S ribosomal 187 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873449 ENSG00000207129 uc063fey.1 NG_033681 HGNC:43087 +HGNC:43088 RNA5SP188 RNA, 5S ribosomal pseudogene 188 pseudogene pseudogene Approved 5q21.1 05q21.1 RN5S188 RNA, 5S ribosomal 188 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873450 ENSG00000199786 uc063fsv.1 NG_033683 HGNC:43088 +HGNC:43089 RNA5SP189 RNA, 5S ribosomal pseudogene 189 pseudogene pseudogene Approved 5q21.3 05q21.3 RN5S189 RNA, 5S ribosomal 189 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873451 ENSG00000201790 uc063fvr.1 NG_033685 HGNC:43089 +HGNC:43090 RNA5SP190 RNA, 5S ribosomal pseudogene 190 pseudogene pseudogene Approved 5q23.1 05q23.1 RN5S190 RNA, 5S ribosomal 190 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873452 ENSG00000202092 uc063ghh.1 NG_033687 HGNC:43090 +HGNC:43091 RNA5SP191 RNA, 5S ribosomal pseudogene 191 pseudogene pseudogene Approved 5q23.3 05q23.3 RN5S191 RNA, 5S ribosomal 191 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873453 ENSG00000199455 uc063grc.1 NG_033689 HGNC:43091 +HGNC:43092 RNA5SP192 RNA, 5S ribosomal pseudogene 192 pseudogene pseudogene Approved 5q31.1 05q31.1 RN5S192 RNA, 5S ribosomal 192 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873454 ENSG00000201274 uc063gxf.1 NG_033691 HGNC:43092 +HGNC:43093 RNA5SP193 RNA, 5S ribosomal pseudogene 193 pseudogene pseudogene Approved 5q31.2 05q31.2 RN5S193 RNA, 5S ribosomal 193 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873455 ENSG00000222285 uc063hhb.1 NG_033693 HGNC:43093 +HGNC:43094 RNA5SP194 RNA, 5S ribosomal pseudogene 194 pseudogene pseudogene Approved 5q31.2 05q31.2 RN5S194 RNA, 5S ribosomal 194 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873456 ENSG00000201532 uc063hoe.1 NG_033695 HGNC:43094 +HGNC:43095 RNA5SP195 RNA, 5S ribosomal pseudogene 195 pseudogene pseudogene Approved 5q31.2 05q31.2 RN5S195 RNA, 5S ribosomal 195 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873457 ENSG00000199545 uc063hqb.1 NG_012846 HGNC:43095 +HGNC:43096 RNA5SP196 RNA, 5S ribosomal pseudogene 196 pseudogene pseudogene Approved 5q32 05q32 RN5S196 RNA, 5S ribosomal 196 2011-10-24 2012-08-09 2012-08-09 2017-01-12 100873458 ENSG00000280646 NG_033699 HGNC:43096 +HGNC:43097 RNA5SP197 RNA, 5S ribosomal pseudogene 197 pseudogene pseudogene Approved 5q33.1 05q33.1 RN5S197 RNA, 5S ribosomal 197 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873459 ENSG00000200227 uc063ivn.1 NG_033701 HGNC:43097 +HGNC:43098 RNA5SP198 RNA, 5S ribosomal pseudogene 198 pseudogene pseudogene Approved 5q33.1 05q33.1 RN5S198 RNA, 5S ribosomal 198 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873460 ENSG00000222308 uc063iwx.1 NG_011764 HGNC:43098 +HGNC:43099 RNA5SP199 RNA, 5S ribosomal pseudogene 199 pseudogene pseudogene Approved 5q33.2 05q33.2 RN5S199 RNA, 5S ribosomal 199 2011-10-24 2012-08-09 2012-08-09 2014-11-19 106480438 ENSG00000200275 uc063jbk.1 NG_043361 HGNC:43099 +HGNC:43100 RNA5SP200 RNA, 5S ribosomal pseudogene 200 pseudogene pseudogene Approved 5q35.1 05q35.1 RN5S200 RNA, 5S ribosomal 200 2011-10-24 2012-08-09 2012-08-09 2014-11-19 100873461 ENSG00000252169 uc063jtb.1 NG_033705 HGNC:43100 +HGNC:43101 RNA5SP201 RNA, 5S ribosomal pseudogene 201 pseudogene pseudogene Approved 6p25.2 06p25.2 RN5S201 RNA, 5S ribosomal 201 2011-11-01 2012-08-09 2012-08-09 2014-11-19 100873462 ENSG00000222248 uc063llw.1 NG_033707 HGNC:43101 +HGNC:43102 RNA5SP202 RNA, 5S ribosomal pseudogene 202 pseudogene pseudogene Approved 6p25.1 06p25.1 RN5S202 RNA, 5S ribosomal 202 2011-11-01 2012-08-09 2012-08-09 2014-11-19 100873463 ENSG00000201185 uc032wjm.2 NG_033709 HGNC:43102 +HGNC:43103 RNA5SP203 RNA, 5S ribosomal pseudogene 203 pseudogene pseudogene Approved 6p24.2 06p24.2 RN5S203 RNA, 5S ribosomal 203 2011-11-01 2012-08-09 2012-08-09 2014-11-19 100873464 ENSG00000222383 uc063lvi.1 NG_033711 HGNC:43103 +HGNC:43104 RNA5SP204 RNA, 5S ribosomal pseudogene 204 pseudogene pseudogene Approved 6p22.3 06p22.3 RN5S204 RNA, 5S ribosomal 204 2011-11-01 2012-08-09 2012-08-09 2014-11-19 100873465 ENSG00000201415 uc063mbf.1 NG_033713 HGNC:43104 +HGNC:43105 RNA5SP205 RNA, 5S ribosomal pseudogene 205 pseudogene pseudogene Approved 6p22.3 06p22.3 RN5S205 RNA, 5S ribosomal 205 2011-11-01 2012-08-09 2012-08-09 2014-11-19 100873466 ENSG00000201523 uc021ymh.1 NG_033715 HGNC:43105 +HGNC:43106 RNA5SP206 RNA, 5S ribosomal pseudogene 206 pseudogene pseudogene Approved 6p21.33 06p21.33 RN5S206 RNA, 5S ribosomal 206 2011-11-04 2012-08-09 2012-08-09 2014-11-19 106478999 ENSG00000252512 uc063noa.1 NG_008337 HGNC:43106 +HGNC:43107 RNA5SP207 RNA, 5S ribosomal pseudogene 207 pseudogene pseudogene Approved 6p21.1 06p21.1 RN5S207 RNA, 5S ribosomal 207 2011-11-04 2012-08-09 2012-08-09 2014-11-19 100873467 ENSG00000212176 uc063ojx.1 NG_033717 HGNC:43107 +HGNC:43108 RNA5SP208 RNA, 5S ribosomal pseudogene 208 pseudogene pseudogene Approved 6q12 06q12 RN5S208 RNA, 5S ribosomal 208 2011-11-04 2012-08-09 2012-08-09 2014-11-19 100873468 ENSG00000251965 uc063pjh.1 NG_033719 HGNC:43108 +HGNC:43109 RNA5SP209 RNA, 5S ribosomal pseudogene 209 pseudogene pseudogene Approved 6q14.1 06q14.1 RN5S209 RNA, 5S ribosomal 209 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873469 ENSG00000223169 uc063pri.1 NG_033720 HGNC:43109 +HGNC:43110 RNA5SP210 RNA, 5S ribosomal pseudogene 210 pseudogene pseudogene Approved 6q14.1 06q14.1 RN5S210 RNA, 5S ribosomal 210 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873470 ENSG00000212336 uc063ptf.1 NG_033722 HGNC:43110 +HGNC:43111 RNA5SP211 RNA, 5S ribosomal pseudogene 211 pseudogene pseudogene Approved 6q21 06q21 RN5S211 RNA, 5S ribosomal 211 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873471 ENSG00000202386 uc021zdo.1 NG_033724 HGNC:43111 +HGNC:43112 RNA5SP212 RNA, 5S ribosomal pseudogene 212 pseudogene pseudogene Approved 6q21 06q21 RN5S212 RNA, 5S ribosomal 212 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873472 ENSG00000212525 uc063qlp.1 NG_023278 HGNC:43112 +HGNC:43113 RNA5SP213 RNA, 5S ribosomal pseudogene 213 pseudogene pseudogene Approved 6q21 06q21 RN5S213 RNA, 5S ribosomal 213 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873473 ENSG00000212333 uc021zea.1 NG_033282 HGNC:43113 +HGNC:43114 RNA5SP214 RNA, 5S ribosomal pseudogene 214 pseudogene pseudogene Approved 6q22.1 06q22.1 RN5S214 RNA, 5S ribosomal 214 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873474 ENSG00000200248 uc063qyl.1 NG_033284 HGNC:43114 +HGNC:43115 RNA5SP215 RNA, 5S ribosomal pseudogene 215 pseudogene pseudogene Approved 6q22.31 06q22.31 RN5S215 RNA, 5S ribosomal 215 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873475 ENSG00000200310 uc063rah.1 NG_033286 HGNC:43115 +HGNC:43116 RNA5SP216 RNA, 5S ribosomal pseudogene 216 pseudogene pseudogene Approved 6q22.32 06q22.32 RN5S216 RNA, 5S ribosomal 216 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873476 ENSG00000251920 uc063rdv.1 NG_033288 HGNC:43116 +HGNC:43117 RNA5SP217 RNA, 5S ribosomal pseudogene 217 pseudogene pseudogene Approved 6q22.33 06q22.33 RN5S217 RNA, 5S ribosomal 217 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873477 ENSG00000251768 uc021zez.1 NG_033290 HGNC:43117 +HGNC:43118 RNA5SP218 RNA, 5S ribosomal pseudogene 218 pseudogene pseudogene Approved 6q23.2 06q23.2 RN5S218 RNA, 5S ribosomal 218 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873478 ENSG00000200058 uc063roe.1 NG_033292 HGNC:43118 +HGNC:43119 RNA5SP219 RNA, 5S ribosomal pseudogene 219 pseudogene pseudogene Approved 6q23.3 06q23.3 RN5S219 RNA, 5S ribosomal 219 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873479 ENSG00000212242 uc063rtj.1 NG_033294 HGNC:43119 +HGNC:43120 RNA5SP220 RNA, 5S ribosomal pseudogene 220 pseudogene pseudogene Approved 6q24.1 06q24.1 RN5S220 RNA, 5S ribosomal 220 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873480 ENSG00000252107 uc021zgc.1 NG_033296 HGNC:43120 +HGNC:43121 RNA5SP221 RNA, 5S ribosomal pseudogene 221 pseudogene pseudogene Approved 6q24.2 06q24.2 RN5S221 RNA, 5S ribosomal 221 2011-11-16 2012-08-09 2012-08-09 2014-11-19 106480759 ENSG00000223203 uc063rzb.1 NG_045611 HGNC:43121 +HGNC:43122 RNA5SP222 RNA, 5S ribosomal pseudogene 222 pseudogene pseudogene Approved 6q24.3 06q24.3 RN5S222 RNA, 5S ribosomal 222 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873481 ENSG00000222971 uc063sby.1 NG_033298 HGNC:43122 +HGNC:43123 RNA5SP223 RNA, 5S ribosomal pseudogene 223 pseudogene pseudogene Approved 6q25.2 06q25.2 RN5S223 RNA, 5S ribosomal 223 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873482 ENSG00000202044 uc063siq.1 NG_012855 HGNC:43123 +HGNC:43124 RNA5SP224 RNA, 5S ribosomal pseudogene 224 pseudogene pseudogene Approved 6q25.2 06q25.2 RN5S224 RNA, 5S ribosomal 224 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873483 ENSG00000201939 uc063sjr.1 NG_033302 HGNC:43124 +HGNC:43125 RNA5SP225 RNA, 5S ribosomal pseudogene 225 pseudogene pseudogene Approved 6q25.2 06q25.2 RN5S225 RNA, 5S ribosomal 225 2011-11-16 2012-08-09 2012-08-09 2014-11-19 100873484 ENSG00000222806 uc032xpp.2 NG_033304 HGNC:43125 +HGNC:43126 RNA5SP226 RNA, 5S ribosomal pseudogene 226 pseudogene pseudogene Approved 6q27 06q27 RN5S226 RNA, 5S ribosomal 226 2011-11-16 2012-08-09 2012-08-09 2014-11-19 106479000 ENSG00000199523 uc032xsm.2 NG_031878 HGNC:43126 +HGNC:43127 RNA5SP227 RNA, 5S ribosomal pseudogene 227 pseudogene pseudogene Approved 7p15.3 07p15.3 RN5S227 RNA, 5S ribosomal 227 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873485 ENSG00000251993 uc064bxi.1 NG_033305 HGNC:43127 +HGNC:43128 RNA5SP228 RNA, 5S ribosomal pseudogene 228 pseudogene pseudogene Approved 7p15.3 07p15.3 RN5S228 RNA, 5S ribosomal 228 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873486 ENSG00000252041 uc064cbw.1 NG_033306 HGNC:43128 +HGNC:43129 RNA5SP229 RNA, 5S ribosomal pseudogene 229 pseudogene pseudogene Approved 7p14.3 07p14.3 RN5S229 RNA, 5S ribosomal 229 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873487 ENSG00000222741 uc064csc.1 NG_033307 HGNC:43129 +HGNC:43130 RNA5SP230 RNA, 5S ribosomal pseudogene 230 pseudogene pseudogene Approved 7p13 07p13 RN5S230 RNA, 5S ribosomal 230 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873488 ENSG00000252848 uc064dgl.1 NG_033308 HGNC:43130 +HGNC:43131 RNA5SP231 RNA, 5S ribosomal pseudogene 231 pseudogene pseudogene Approved 7q11.22 07q11.22 RN5S231 RNA, 5S ribosomal 231 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873489 ENSG00000222428 uc064ebw.1 NG_033309 HGNC:43131 +HGNC:43132 RNA5SP232 RNA, 5S ribosomal pseudogene 232 pseudogene pseudogene Approved 7q11.22 07q11.22 RN5S232 RNA, 5S ribosomal 232 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873490 ENSG00000201014 uc064edg.1 NG_033310 HGNC:43132 +HGNC:43133 RNA5SP233 RNA, 5S ribosomal pseudogene 233 pseudogene pseudogene Approved 7q11.23 07q11.23 RN5S233 RNA, 5S ribosomal 233 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873491 ENSG00000238391 uc064ejs.1 NG_033311 HGNC:43133 +HGNC:43134 RNA5SP234 RNA, 5S ribosomal pseudogene 234 pseudogene pseudogene Approved 7q21.11 07q21.11 RN5S234 RNA, 5S ribosomal 234 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873492 ENSG00000200786 uc064eua.1 NG_033312 HGNC:43134 +HGNC:43135 RNA5SP235 RNA, 5S ribosomal pseudogene 235 pseudogene pseudogene Approved 7q21.11 07q21.11 RN5S235 RNA, 5S ribosomal 235 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873493 ENSG00000202281 uc064exh.1 NG_033313 HGNC:43135 +HGNC:43136 RNA5SP236 RNA, 5S ribosomal pseudogene 236 pseudogene pseudogene Approved 7q22.3 07q22.3 RN5S236 RNA, 5S ribosomal 236 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873494 ENSG00000251978 uc064gwk.1 NG_033314 HGNC:43136 +HGNC:43137 RNA5SP237 RNA, 5S ribosomal pseudogene 237 pseudogene pseudogene Approved 7q31.1 07q31.1 RN5S237 RNA, 5S ribosomal 237 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873495 ENSG00000222346 uc064hde.1 NG_028060 HGNC:43137 +HGNC:43138 RNA5SP238 RNA, 5S ribosomal pseudogene 238 pseudogene pseudogene Approved 7q31.1 07q31.1 RN5S238 RNA, 5S ribosomal 238 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873496 ENSG00000202334 uc064hfj.1 NG_033316 HGNC:43138 +HGNC:43139 RNA5SP239 RNA, 5S ribosomal pseudogene 239 pseudogene pseudogene Approved 7q31.2 07q31.2 RN5S239 RNA, 5S ribosomal 239 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873497 ENSG00000222150 uc022akm.1 NG_033317 HGNC:43139 +HGNC:43140 RNA5SP240 RNA, 5S ribosomal pseudogene 240 pseudogene pseudogene Approved 7q31.31 07q31.31 RN5S240 RNA, 5S ribosomal 240 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873498 ENSG00000202225 uc064hmd.1 NG_033318 HGNC:43140 +HGNC:43141 RNA5SP241 RNA, 5S ribosomal pseudogene 241 pseudogene pseudogene Approved 7q31.31 07q31.31 RN5S241 RNA, 5S ribosomal 241 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873499 ENSG00000212628 uc064hmk.1 NG_033319 HGNC:43141 +HGNC:43142 RNA5SP242 RNA, 5S ribosomal pseudogene 242 pseudogene pseudogene Approved 7q32.1 07q32.1 RN5S242 RNA, 5S ribosomal 242 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873500 ENSG00000201041 uc064hux.1 NG_033320 HGNC:43142 +HGNC:43143 RNA5SP243 RNA, 5S ribosomal pseudogene 243 pseudogene pseudogene Approved 7q32.1 07q32.1 RN5S243 RNA, 5S ribosomal 243 2011-11-30 2012-08-09 2012-08-09 2014-11-19 106479001 ENSG00000252866 uc064huy.1 NG_044113 HGNC:43143 +HGNC:43144 RNA5SP244 RNA, 5S ribosomal pseudogene 244 pseudogene pseudogene Approved 7q32.2 07q32.2 RN5S244 RNA, 5S ribosomal 244 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100885864 ENSG00000212238 uc064hxo.1 NR_048572 HGNC:43144 +HGNC:43145 RNA5SP245 RNA, 5S ribosomal pseudogene 245 pseudogene pseudogene Approved 7q32.2 07q32.2 RN5S245 RNA, 5S ribosomal 245 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873501 ENSG00000201109 uc064hye.1 NG_033321 HGNC:43145 +HGNC:43146 RNA5SP246 RNA, 5S ribosomal pseudogene 246 pseudogene pseudogene Approved 7q32.2 07q32.2 RN5S246 RNA, 5S ribosomal 246 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873502 ENSG00000239021 uc064ibd.1 NG_033322 HGNC:43146 +HGNC:43147 RNA5SP247 RNA, 5S ribosomal pseudogene 247 pseudogene pseudogene Approved 7q34 07q34 RN5S247 RNA, 5S ribosomal 247 2011-11-30 2012-08-09 2012-08-09 2014-11-18 100873503 ENSG00000223113 uc022amt.1 NG_033323 HGNC:43147 +HGNC:43148 RNA5SP248 RNA, 5S ribosomal pseudogene 248 pseudogene pseudogene Approved 7q34 07q34 RN5S248 RNA, 5S ribosomal 248 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873504 ENSG00000202472 uc033ajf.2 NG_033324 HGNC:43148 +HGNC:43149 RNA5SP249 RNA, 5S ribosomal pseudogene 249 pseudogene pseudogene Approved 7q35 07q35 RN5S249 RNA, 5S ribosomal 249 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873505 ENSG00000251936 uc022aor.1 NG_033325 HGNC:43149 +HGNC:43150 RNA5SP250 RNA, 5S ribosomal pseudogene 250 pseudogene pseudogene Approved 7q36.1 07q36.1 RN5S250 RNA, 5S ribosomal 250 2011-11-30 2012-08-09 2012-08-09 2014-11-19 100873506 ENSG00000199404 uc064jmy.1 NG_033326 HGNC:43150 +HGNC:43151 RNA5SP251 RNA, 5S ribosomal pseudogene 251 pseudogene pseudogene Approved 8p23.2 08p23.2 RN5S251 RNA, 5S ribosomal 251 2011-12-06 2012-08-09 2012-08-09 2014-11-19 100873507 ENSG00000222546 uc064kac.1 NG_033327 HGNC:43151 +HGNC:43152 RNA5SP252 RNA, 5S ribosomal pseudogene 252 pseudogene pseudogene Approved 8p23.1 08p23.1 RN5S252 RNA, 5S ribosomal 252 2011-12-06 2012-08-09 2012-08-09 2014-11-19 100873508 ENSG00000212433 uc064key.1 NG_033328 HGNC:43152 +HGNC:43153 RNA5SP253 RNA, 5S ribosomal pseudogene 253 pseudogene pseudogene Approved 8p23.1 08p23.1 RN5S253 RNA, 5S ribosomal 253 2011-12-06 2012-08-09 2012-08-09 2014-11-19 106480760 ENSG00000252029 uc064kip.1 NG_043867 HGNC:43153 +HGNC:43154 RNA5SP254 RNA, 5S ribosomal pseudogene 254 pseudogene pseudogene Approved 8p23.1 08p23.1 RN5S254 RNA, 5S ribosomal 254 2011-12-06 2012-08-09 2012-08-09 2014-11-19 106481793 ENSG00000252535 uc064kjm.1 NG_043930 HGNC:43154 +HGNC:43155 RNA5SP255 RNA, 5S ribosomal pseudogene 255 pseudogene pseudogene Approved 8p22 08p22 RN5S255 RNA, 5S ribosomal 255 2011-12-06 2012-08-09 2012-08-09 2014-11-19 100873509 ENSG00000252179 uc064kkx.1 NG_033329 HGNC:43155 +HGNC:43156 RNA5SP256 RNA, 5S ribosomal pseudogene 256 pseudogene pseudogene Approved 8p22 08p22 RN5S256 RNA, 5S ribosomal 256 2011-12-06 2012-08-09 2012-08-09 2014-11-19 100873510 ENSG00000212280 uc064kov.1 NG_033330 HGNC:43156 +HGNC:43157 RNA5SP257 RNA, 5S ribosomal pseudogene 257 pseudogene pseudogene Approved 8p21.3 08p21.3 RN5S257 RNA, 5S ribosomal 257 2011-12-06 2012-08-09 2012-08-09 2015-01-30 100873511 ENSG00000274467 uc064kuh.1 NG_033331 HGNC:43157 +HGNC:43158 RNA5SP258 RNA, 5S ribosomal pseudogene 258 pseudogene pseudogene Approved 8p21.2 08p21.2 RN5S258 RNA, 5S ribosomal 258 2011-12-06 2012-08-09 2012-08-09 2014-11-19 100873512 ENSG00000199620 uc064lik.1 NG_033332 HGNC:43158 +HGNC:43159 RNA5SP259 RNA, 5S ribosomal pseudogene 259 pseudogene pseudogene Approved 8p21.1 08p21.1 RN5S259 RNA, 5S ribosomal 259 2011-12-06 2012-08-09 2012-08-09 2014-11-18 100873513 ENSG00000202411 uc033bfx.2 NG_029723 HGNC:43159 +HGNC:43160 RNA5SP260 RNA, 5S ribosomal pseudogene 260 pseudogene pseudogene Approved 8p12 08p12 RN5S260 RNA, 5S ribosomal 260 2011-12-06 2012-08-09 2012-08-09 2014-11-19 100873514 ENSG00000200719 uc022atj.1 NG_033334 HGNC:43160 +HGNC:43161 RNA5SP261 RNA, 5S ribosomal pseudogene 261 pseudogene pseudogene Approved 8p12 08p12 RN5S261 RNA, 5S ribosomal 261 2011-12-06 2012-08-09 2012-08-09 2014-11-19 100873515 ENSG00000222468 uc064lui.1 NG_033335 HGNC:43161 +HGNC:43162 RNA5SP262 RNA, 5S ribosomal pseudogene 262 pseudogene pseudogene Approved 8p12 08p12 RN5S262 RNA, 5S ribosomal 262 2011-12-06 2012-08-09 2012-08-09 2014-11-19 100873516 ENSG00000252261 uc022att.1 NG_012005 HGNC:43162 +HGNC:43163 RNA5SP263 RNA, 5S ribosomal pseudogene 263 pseudogene pseudogene Approved 8p12 08p12 RN5S263 RNA, 5S ribosomal 263 2011-12-12 2012-08-09 2012-08-09 2014-11-19 106479002 ENSG00000200246 uc064lut.1 NG_045716 HGNC:43163 +HGNC:43164 RNA5SP264 RNA, 5S ribosomal pseudogene 264 pseudogene pseudogene Approved 8p11.23 08p11.23 RN5S264 RNA, 5S ribosomal 264 2011-12-12 2012-08-09 2012-08-09 2014-11-19 100873517 ENSG00000199985 uc064lwu.1 NG_033337 HGNC:43164 +HGNC:43165 RNA5SP265 RNA, 5S ribosomal pseudogene 265 pseudogene pseudogene Approved 8q12.1 08q12.1 RN5S265 RNA, 5S ribosomal 265 2011-12-12 2012-08-09 2012-08-09 2014-11-19 100873518 ENSG00000222955 uc064mxo.1 NG_033338 HGNC:43165 +HGNC:43166 RNA5SP266 RNA, 5S ribosomal pseudogene 266 pseudogene pseudogene Approved 8q12.1 08q12.1 RN5S266 RNA, 5S ribosomal 266 2011-12-12 2012-08-09 2012-08-09 2014-11-19 100873519 ENSG00000222205 uc064mzy.1 NG_033339 HGNC:43166 +HGNC:43167 RNA5SP267 RNA, 5S ribosomal pseudogene 267 pseudogene pseudogene Approved 8q12.1 08q12.1 RN5S267 RNA, 5S ribosomal 267 2011-12-12 2012-08-09 2012-08-09 2014-11-19 100873520 ENSG00000201763 uc064ncg.1 NG_033340 HGNC:43167 +HGNC:43168 RNA5SP268 RNA, 5S ribosomal pseudogene 268 pseudogene pseudogene Approved 8q13.2 08q13.2 RN5S268 RNA, 5S ribosomal 268 2011-12-12 2012-08-09 2012-08-09 2014-11-19 100873521 ENSG00000252637 uc064nlz.1 NG_033341 HGNC:43168 +HGNC:43169 RNA5SP269 RNA, 5S ribosomal pseudogene 269 pseudogene pseudogene Approved 8q13.2 08q13.2 RN5S269 RNA, 5S ribosomal 269 2011-12-12 2012-08-09 2012-08-09 2014-11-19 100873522 ENSG00000239184 uc022avo.1 NG_033342 HGNC:43169 +HGNC:43170 RNA5SP270 RNA, 5S ribosomal pseudogene 270 pseudogene pseudogene Approved 8q13.3 08q13.3 RN5S270 RNA, 5S ribosomal 270 2011-12-12 2012-08-09 2012-08-09 2014-11-19 100873523 ENSG00000223293 uc064noj.1 NG_033343 HGNC:43170 +HGNC:43171 RNA5SP271 RNA, 5S ribosomal pseudogene 271 pseudogene pseudogene Approved 8q13.3 08q13.3 RN5S271 RNA, 5S ribosomal 271 2011-12-12 2012-08-09 2012-08-09 2014-11-19 100873524 ENSG00000252509 uc064nqv.1 NG_033344 HGNC:43171 +HGNC:43172 RNA5SP272 RNA, 5S ribosomal pseudogene 272 pseudogene pseudogene Approved 8q21.3 08q21.3 RN5S272 RNA, 5S ribosomal 272 2011-12-12 2012-08-09 2012-08-09 2014-11-19 100873525 ENSG00000251904 uc064ogy.1 NG_033345 HGNC:43172 +HGNC:43173 RNA5SP273 RNA, 5S ribosomal pseudogene 273 pseudogene pseudogene Approved 8q21.3 08q21.3 RN5S273 RNA, 5S ribosomal 273 2011-12-13 2012-08-09 2012-08-09 2014-11-19 100873526 ENSG00000199354 uc064oje.1 NG_033346 HGNC:43173 +HGNC:43174 RNA5SP274 RNA, 5S ribosomal pseudogene 274 pseudogene pseudogene Approved 8q22.1 08q22.1 RN5S274 RNA, 5S ribosomal 274 2011-12-13 2012-08-09 2012-08-09 2014-11-19 100873527 ENSG00000222416 uc064ono.1 NG_033347 HGNC:43174 +HGNC:43175 RNA5SP275 RNA, 5S ribosomal pseudogene 275 pseudogene pseudogene Approved 8q23.1 08q23.1 RN5S275 RNA, 5S ribosomal 275 2011-12-13 2012-08-09 2012-08-09 2014-11-19 100873528 ENSG00000200806 uc064pmd.1 NG_033348 HGNC:43175 +HGNC:43176 RNA5SP276 RNA, 5S ribosomal pseudogene 276 pseudogene pseudogene Approved 8q23.3 08q23.3 RN5S276 RNA, 5S ribosomal 276 2011-12-13 2012-08-09 2012-08-09 2014-11-19 100873529 ENSG00000199450 uc064pqx.1 NG_033350 HGNC:43176 +HGNC:43177 RNA5SP277 RNA, 5S ribosomal pseudogene 277 pseudogene pseudogene Approved 8q24.12 08q24.12 RN5S277 RNA, 5S ribosomal 277 2011-12-13 2012-08-09 2012-08-09 2014-11-19 100873530 ENSG00000202356 uc064puk.1 NG_033352 HGNC:43177 +HGNC:43178 RNA5SP278 RNA, 5S ribosomal pseudogene 278 pseudogene pseudogene Approved 8q24.3 08q24.3 RN5S278 RNA, 5S ribosomal 278 2011-12-13 2012-08-09 2012-08-09 2014-11-19 100873531 ENSG00000252864 uc064qsq.1 NG_033354 HGNC:43178 +HGNC:43179 RNA5SP279 RNA, 5S ribosomal pseudogene 279 pseudogene pseudogene Approved 9p24.3 09p24.3 RN5S279 RNA, 5S ribosomal 279 2011-12-13 2012-08-09 2012-08-09 2014-11-19 100873532 ENSG00000202383 uc064rvz.1 NG_033356 HGNC:43179 +HGNC:43180 RNA5SP280 RNA, 5S ribosomal pseudogene 280 pseudogene pseudogene Approved 9p21.2 09p21.2 RN5S280 RNA, 5S ribosomal 280 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873533 ENSG00000223162 uc022bex.1 NG_011828 HGNC:43180 +HGNC:43181 RNA5SP281 RNA, 5S ribosomal pseudogene 281 pseudogene pseudogene Approved 9p21.1 09p21.1 RN5S281 RNA, 5S ribosomal 281 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873534 ENSG00000252313 uc064smy.1 NG_033360 HGNC:43181 +HGNC:43182 RNA5SP282 RNA, 5S ribosomal pseudogene 282 pseudogene pseudogene Approved 9p13.3 09p13.3 RN5S282 RNA, 5S ribosomal 282 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873535 ENSG00000252164 uc064srp.1 NG_033362 HGNC:43182 +HGNC:43183 RNA5SP283 RNA, 5S ribosomal pseudogene 283 pseudogene pseudogene Approved 9q13 09q13 RN5S283 RNA, 5S ribosomal 283 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873536 ENSG00000202474 uc064tkd.1 NG_033364 HGNC:43183 +HGNC:43184 RNA5SP284 RNA, 5S ribosomal pseudogene 284 pseudogene pseudogene Approved 9q13 09q13 RN5S284 RNA, 5S ribosomal 284 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873537 ENSG00000207277 uc064tku.1 NG_033366 HGNC:43184 +HGNC:43185 RNA5SP285 RNA, 5S ribosomal pseudogene 285 pseudogene pseudogene Approved 9q21.13 09q21.13 RN5S285 RNA, 5S ribosomal 285 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873538 ENSG00000252428 uc022bia.1 NG_033368 HGNC:43185 +HGNC:43186 RNA5SP286 RNA, 5S ribosomal pseudogene 286 pseudogene pseudogene Approved 9q21.13 09q21.13 RN5S286 RNA, 5S ribosomal 286 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873539 ENSG00000212454 uc064ttm.1 NG_033370 HGNC:43186 +HGNC:43187 RNA5SP287 RNA, 5S ribosomal pseudogene 287 pseudogene pseudogene Approved 9q21.32 09q21.32 RN5S287 RNA, 5S ribosomal 287 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873540 ENSG00000252167 uc064txq.1 NG_033372 HGNC:43187 +HGNC:43188 RNA5SP288 RNA, 5S ribosomal pseudogene 288 pseudogene pseudogene Approved 9q22.32 09q22.32 RN5S288 RNA, 5S ribosomal 288 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873541 ENSG00000251884 uc064umf.1 NG_033374 HGNC:43188 +HGNC:43189 RNA5SP289 RNA, 5S ribosomal pseudogene 289 pseudogene pseudogene Approved 9q22.32 09q22.32 RN5S289 RNA, 5S ribosomal 289 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873542 ENSG00000199202 uc064unp.1 NG_034107 HGNC:43189 +HGNC:43190 RNA5SP290 RNA, 5S ribosomal pseudogene 290 pseudogene pseudogene Approved 9q22.33 09q22.33 RN5S290 RNA, 5S ribosomal 290 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873543 ENSG00000252942 uc022bkv.1 NG_033378 HGNC:43190 +HGNC:43191 RNA5SP291 RNA, 5S ribosomal pseudogene 291 pseudogene pseudogene Approved 9q31.1 09q31.1 RN5S291 RNA, 5S ribosomal 291 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873544 ENSG00000253031 uc064uwg.1 NG_033380 HGNC:43191 +HGNC:43192 RNA5SP292 RNA, 5S ribosomal pseudogene 292 pseudogene pseudogene Approved 9q31.2 09q31.2 RN5S292 RNA, 5S ribosomal 292 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873545 ENSG00000212276 uc064uxt.1 NG_033382 HGNC:43192 +HGNC:43193 RNA5SP293 RNA, 5S ribosomal pseudogene 293 pseudogene pseudogene Approved 9q31.2 09q31.2 RN5S293 RNA, 5S ribosomal 293 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873546 ENSG00000222459 uc022bll.1 NG_033384 HGNC:43193 +HGNC:43194 RNA5SP294 RNA, 5S ribosomal pseudogene 294 pseudogene pseudogene Approved 9q31.3 09q31.3 RN5S294 RNA, 5S ribosomal 294 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873547 ENSG00000223238 uc022blx.1 NG_033386 HGNC:43194 +HGNC:43195 RNA5SP295 RNA, 5S ribosomal pseudogene 295 pseudogene pseudogene Approved 9q32 09q32 RN5S295 RNA, 5S ribosomal 295 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873548 ENSG00000199525 uc064vcc.1 NG_033388 HGNC:43195 +HGNC:43196 RNA5SP296 RNA, 5S ribosomal pseudogene 296 pseudogene pseudogene Approved 9q34.11 09q34.11 RN5S296 RNA, 5S ribosomal 296 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873549 ENSG00000222455 uc022bnt.1 NG_009551 HGNC:43196 +HGNC:43197 RNA5SP297 RNA, 5S ribosomal pseudogene 297 pseudogene pseudogene Approved 10p15.3 10p15.3 RN5S297 RNA, 5S ribosomal 297 2012-01-16 2012-08-09 2012-08-09 2014-11-19 106479003 ENSG00000212331 uc057rdl.1 NG_029960 HGNC:43197 +HGNC:43198 RNA5SP298 RNA, 5S ribosomal pseudogene 298 pseudogene pseudogene Approved 10p15.3 10p15.3 RN5S298 RNA, 5S ribosomal 298 2012-01-16 2012-08-09 2012-08-09 2014-11-18 106480761 ENSG00000201861 uc021pmi.3 NG_045615 HGNC:43198 +HGNC:43199 RNA5SP299 RNA, 5S ribosomal pseudogene 299 pseudogene pseudogene Approved 10p14 10p14 RN5S299 RNA, 5S ribosomal 299 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873574 ENSG00000212505 uc057rpp.1 NG_033440 HGNC:43199 +HGNC:43200 RNA5SP300 RNA, 5S ribosomal pseudogene 300 pseudogene pseudogene Approved 10p13 10p13 RN5S300 RNA, 5S ribosomal 300 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873575 ENSG00000212499 uc021pnb.1 NG_033442 HGNC:43200 +HGNC:43201 RNA5SP301 RNA, 5S ribosomal pseudogene 301 pseudogene pseudogene Approved 10p13 10p13 RN5S301 RNA, 5S ribosomal 301 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873576 ENSG00000199407 uc057rxd.1 NG_033444 HGNC:43201 +HGNC:43202 RNA5SP302 RNA, 5S ribosomal pseudogene 302 pseudogene pseudogene Approved 10p13 10p13 RN5S302 RNA, 5S ribosomal 302 2012-01-16 2012-08-09 2012-08-09 2014-11-19 106479004 ENSG00000201766 uc057ryf.1 NG_045723 HGNC:43202 +HGNC:43203 RNA5SP303 RNA, 5S ribosomal pseudogene 303 pseudogene pseudogene Approved 10p12.31 10p12.31 RN5S303 RNA, 5S ribosomal 303 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873577 ENSG00000252001 uc057scy.1 NG_033447 HGNC:43203 +HGNC:43204 RNA5SP304 RNA, 5S ribosomal pseudogene 304 pseudogene pseudogene Approved 10p12.2 10p12.2 RN5S304 RNA, 5S ribosomal 304 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873578 ENSG00000223131 uc057sgo.1 NG_033449 HGNC:43204 +HGNC:43205 RNA5SP305 RNA, 5S ribosomal pseudogene 305 pseudogene pseudogene Approved 10p12.1 10p12.1 RN5S305 RNA, 5S ribosomal 305 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873579 ENSG00000199535 uc057shr.1 NG_033451 HGNC:43205 +HGNC:43206 RNA5SP306 RNA, 5S ribosomal pseudogene 306 pseudogene pseudogene Approved 10p12.1 10p12.1 RN5S306 RNA, 5S ribosomal 306 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873580 ENSG00000223019 uc057sif.1 NG_033453 HGNC:43206 +HGNC:43207 RNA5SP307 RNA, 5S ribosomal pseudogene 307 pseudogene pseudogene Approved 10p12.1 10p12.1 RN5S307 RNA, 5S ribosomal 307 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873581 ENSG00000199733 uc057sin.1 NG_033455 HGNC:43207 +HGNC:43208 RNA5SP308 RNA, 5S ribosomal pseudogene 308 pseudogene pseudogene Approved 10p12.1 10p12.1 RN5S308 RNA, 5S ribosomal 308 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873582 ENSG00000199402 uc057smi.1 NG_033457 HGNC:43208 +HGNC:43209 RNA5SP309 RNA, 5S ribosomal pseudogene 309 pseudogene pseudogene Approved 10p11.22 10p11.22 RN5S309 RNA, 5S ribosomal 309 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873583 ENSG00000252479 uc021pou.1 NG_033459 HGNC:43209 +HGNC:43210 RNA5SP310 RNA, 5S ribosomal pseudogene 310 pseudogene pseudogene Approved 10q11.22 10q11.22 "RN5S310|RNA5SP316|RN5S316" "RNA, 5S ribosomal 310|RNA, 5S ribosomal pseudogene 316|RNA, 5S ribosomal 316" 2012-01-16 2012-08-09 2012-08-09 2015-02-04 106480762 ENSG00000239152 uc057szt.1 NG_045617 HGNC:43210 +HGNC:43211 RNA5SP311 RNA, 5S ribosomal pseudogene 311 pseudogene pseudogene Approved 10q11.22 10q11.22 "RN5S311|RNA5SP314|RN5S314" "RNA, 5S ribosomal 311|RNA, 5S ribosomal pseudogene 314|RNA, 5S ribosomal 314" 2012-01-16 2012-08-09 2012-08-09 2015-02-04 106480358 ENSG00000238405 uc057tbb.1 NG_044729 HGNC:43211 +HGNC:43212 RNA5SP312 RNA, 5S ribosomal pseudogene 312 pseudogene pseudogene Approved 10q11.22 10q11.22 "RN5S312|RNA5SP313|RN5S313" "RNA, 5S ribosomal 312|RNA, 5S ribosomal pseudogene 313|RNA, 5S ribosomal 313" 2012-01-16 2012-08-09 2012-08-09 2015-02-04 106480439 ENSG00000252877 uc057tbw.1 NG_045421 HGNC:43212 +HGNC:43215 RNA5SP315 RNA, 5S ribosomal pseudogene 315 pseudogene pseudogene Approved 10q11.22 10q11.22 RN5S315 RNA, 5S ribosomal 315 2012-01-16 2012-08-09 2012-08-09 2014-11-19 106479005 ENSG00000252149 uc057tch.1 NG_044142 HGNC:43215 +HGNC:43217 RNA5SP317 RNA, 5S ribosomal pseudogene 317 pseudogene pseudogene Approved 10q11.23 10q11.23 RN5S317 RNA, 5S ribosomal 317 2012-01-16 2012-08-09 2012-08-09 2014-11-19 106479006 ENSG00000222108 uc057tfp.1 NG_045731 HGNC:43217 +HGNC:43218 RNA5SP318 RNA, 5S ribosomal pseudogene 318 pseudogene pseudogene Approved 10q21.1 10q21.1 RN5S318 RNA, 5S ribosomal 318 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873584 ENSG00000252161 uc057tht.1 NG_033461 HGNC:43218 +HGNC:43219 RNA5SP319 RNA, 5S ribosomal pseudogene 319 pseudogene pseudogene Approved 10q21.3 10q21.3 RN5S319 RNA, 5S ribosomal 319 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873585 ENSG00000199638 uc057trd.1 NG_033463 HGNC:43219 +HGNC:43220 RNA5SP320 RNA, 5S ribosomal pseudogene 320 pseudogene pseudogene Approved 10q22.2 10q22.2 RN5S320 RNA, 5S ribosomal 320 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873586 ENSG00000252072 uc057ucs.1 NG_033465 HGNC:43220 +HGNC:43221 RNA5SP321 RNA, 5S ribosomal pseudogene 321 pseudogene pseudogene Approved 10q22.3 10q22.3 RN5S321 RNA, 5S ribosomal 321 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873587 ENSG00000199592 uc021ptv.1 NG_033467 HGNC:43221 +HGNC:43222 RNA5SP322 RNA, 5S ribosomal pseudogene 322 pseudogene pseudogene Approved 10q23.1 10q23.1 RN5S322 RNA, 5S ribosomal 322 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873588 ENSG00000200487 uc057upv.1 NG_011875 HGNC:43222 +HGNC:43223 RNA5SP323 RNA, 5S ribosomal pseudogene 323 pseudogene pseudogene Approved 10q23.33 10q23.33 RN5S323 RNA, 5S ribosomal 323 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873589 ENSG00000212396 uc057uxc.1 NG_033469 HGNC:43223 +HGNC:43224 RNA5SP324 RNA, 5S ribosomal pseudogene 324 pseudogene pseudogene Approved 10q24.1 10q24.1 RN5S324 RNA, 5S ribosomal 324 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873590 ENSG00000202047 uc021pwo.1 NG_033471 HGNC:43224 +HGNC:43225 RNA5SP325 RNA, 5S ribosomal pseudogene 325 pseudogene pseudogene Approved 10q25.1 10q25.1 RN5S325 RNA, 5S ribosomal 325 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873591 ENSG00000200626 uc021pxx.1 NG_029120 HGNC:43225 +HGNC:43226 RNA5SP326 RNA, 5S ribosomal pseudogene 326 pseudogene pseudogene Approved 10q25.1 10q25.1 RN5S326 RNA, 5S ribosomal 326 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873592 ENSG00000200079 uc057vvl.1 NG_033475 HGNC:43226 +HGNC:43227 RNA5SP327 RNA, 5S ribosomal pseudogene 327 pseudogene pseudogene Approved 10q25.2 10q25.2 RN5S327 RNA, 5S ribosomal 327 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873593 ENSG00000199364 uc057vyw.1 NG_021177 HGNC:43227 +HGNC:43228 RNA5SP328 RNA, 5S ribosomal pseudogene 328 pseudogene pseudogene Approved 10q26.2 10q26.2 RN5S328 RNA, 5S ribosomal 328 2012-01-16 2012-08-09 2012-08-09 2014-11-19 100873594 ENSG00000222740 uc057wto.1 NG_033477 HGNC:43228 +HGNC:43229 RNA5SP329 RNA, 5S ribosomal pseudogene 329 pseudogene pseudogene Approved 11p15.4 11p15.4 RN5S329 RNA, 5S ribosomal 329 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873595 ENSG00000202147 uc057yix.1 NG_033478 HGNC:43229 +HGNC:43230 RNA5SP330 RNA, 5S ribosomal pseudogene 330 pseudogene pseudogene Approved 11p15.4 11p15.4 RN5S330 RNA, 5S ribosomal 330 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873596 ENSG00000252905 uc021qdg.1 NG_029450 HGNC:43230 +HGNC:43231 RNA5SP331 RNA, 5S ribosomal pseudogene 331 pseudogene pseudogene Approved 11p15.2 11p15.2 RN5S331 RNA, 5S ribosomal 331 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873597 ENSG00000201856 uc057zhl.1 NG_033480 HGNC:43231 +HGNC:43232 RNA5SP332 RNA, 5S ribosomal pseudogene 332 pseudogene pseudogene Approved 11p15.2 11p15.2 RN5S332 RNA, 5S ribosomal 332 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873598 ENSG00000212365 uc021qeb.1 NG_033481 HGNC:43232 +HGNC:43233 RNA5SP333 RNA, 5S ribosomal pseudogene 333 pseudogene pseudogene Approved 11p15.1 11p15.1 RN5S333 RNA, 5S ribosomal 333 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106480763 ENSG00000200336 uc057zpt.1 NG_045620 HGNC:43233 +HGNC:43234 RNA5SP334 RNA, 5S ribosomal pseudogene 334 pseudogene pseudogene Approved 11p15.1 11p15.1 RN5S334 RNA, 5S ribosomal 334 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106865375 ENSG00000201695 uc057zpx.1 NG_021330 HGNC:43234 +HGNC:43235 RNA5SP335 RNA, 5S ribosomal pseudogene 335 pseudogene pseudogene Approved 11p15.1 11p15.1 RN5S335 RNA, 5S ribosomal 335 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479007 ENSG00000200687 uc057ztu.1 NG_044154 HGNC:43235 +HGNC:43236 RNA5SP336 RNA, 5S ribosomal pseudogene 336 pseudogene pseudogene Approved 11p15.1 11p15.1 RN5S336 RNA, 5S ribosomal 336 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873599 ENSG00000201059 uc031xhq.2 NG_033482 HGNC:43236 +HGNC:43237 RNA5SP337 RNA, 5S ribosomal pseudogene 337 pseudogene pseudogene Approved 11p15.1 11p15.1 RN5S337 RNA, 5S ribosomal 337 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873600 ENSG00000252816 uc057zvk.1 NG_033483 HGNC:43237 +HGNC:43238 RNA5SP338 RNA, 5S ribosomal pseudogene 338 pseudogene pseudogene Approved 11p14.3 11p14.3 RN5S338 RNA, 5S ribosomal 338 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873601 ENSG00000222427 uc057zwc.1 NG_033484 HGNC:43238 +HGNC:43239 RNA5SP339 RNA, 5S ribosomal pseudogene 339 pseudogene pseudogene Approved 11p14.1 11p14.1 RN5S339 RNA, 5S ribosomal 339 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873602 ENSG00000212289 uc021qfe.1 NG_033485 HGNC:43239 +HGNC:43240 RNA5SP340 RNA, 5S ribosomal pseudogene 340 pseudogene pseudogene Approved 11p11.2 11p11.2 RN5S340 RNA, 5S ribosomal 340 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873603 ENSG00000252941 uc058bih.1 NG_033486 HGNC:43240 +HGNC:43241 RNA5SP341 RNA, 5S ribosomal pseudogene 341 pseudogene pseudogene Approved 11q12.1 11q12.1 RN5S341 RNA, 5S ribosomal 341 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873604 ENSG00000252070 uc058blz.1 NG_033487 HGNC:43241 +HGNC:43242 RNA5SP342 RNA, 5S ribosomal pseudogene 342 pseudogene pseudogene Approved 11q13.4 11q13.4 RN5S342 RNA, 5S ribosomal 342 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479008 ENSG00000252902 uc058ewd.1 NG_044162 HGNC:43242 +HGNC:43243 RNA5SP343 RNA, 5S ribosomal pseudogene 343 pseudogene pseudogene Approved 11q13.4 11q13.4 RN5S343 RNA, 5S ribosomal 343 2012-01-30 2012-08-09 2012-08-09 2017-12-21 100873605 ENSG00000284736 uc058fjc.1 NG_033488 HGNC:43243 +HGNC:43244 RNA5SP344 RNA, 5S ribosomal pseudogene 344 pseudogene pseudogene Approved 11q13.5 11q13.5 RN5S344 RNA, 5S ribosomal 344 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873606 ENSG00000223013 uc058fpw.1 NG_046930 HGNC:43244 +HGNC:43245 RNA5SP345 RNA, 5S ribosomal pseudogene 345 pseudogene pseudogene Approved 11q21 11q21 RN5S345 RNA, 5S ribosomal 345 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873607 ENSG00000222578 uc058grx.1 NG_008333 HGNC:43245 +HGNC:43246 RNA5SP346 RNA, 5S ribosomal pseudogene 346 pseudogene pseudogene Approved 11q21 11q21 RN5S346 RNA, 5S ribosomal 346 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873608 ENSG00000200411 uc058gst.1 NG_033491 HGNC:43246 +HGNC:43247 RNA5SP347 RNA, 5S ribosomal pseudogene 347 pseudogene pseudogene Approved 11q22.1 11q22.1 RN5S347 RNA, 5S ribosomal 347 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873609 ENSG00000199315 uc058gsx.1 NG_033492 HGNC:43247 +HGNC:43248 RNA5SP348 RNA, 5S ribosomal pseudogene 348 pseudogene pseudogene Approved 11q22.3 11q22.3 RN5S348 RNA, 5S ribosomal 348 2012-01-30 2012-08-09 2012-08-09 2015-01-30 100873610 NG_033493 HGNC:43248 +HGNC:43249 RNA5SP349 RNA, 5S ribosomal pseudogene 349 pseudogene pseudogene Approved 11q22.3 11q22.3 RN5S349 RNA, 5S ribosomal 349 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873611 ENSG00000200613 uc021qqc.1 NG_033494 HGNC:43249 +HGNC:43250 RNA5SP350 RNA, 5S ribosomal pseudogene 350 pseudogene pseudogene Approved 11q23.1 11q23.1 RN5S350 RNA, 5S ribosomal 350 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106481794 ENSG00000200168 uc021qqh.1 NG_043938 HGNC:43250 +HGNC:43251 RNA5SP351 RNA, 5S ribosomal pseudogene 351 pseudogene pseudogene Approved 11q23.1 11q23.1 RN5S351 RNA, 5S ribosomal 351 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106480764 ENSG00000238965 uc058hgr.1 NG_009824 HGNC:43251 +HGNC:43252 RNA5SP352 RNA, 5S ribosomal pseudogene 352 pseudogene pseudogene Approved 11q24.2 11q24.2 RN5S352 RNA, 5S ribosomal 352 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873612 ENSG00000200278 uc031yir.2 NG_028132 HGNC:43252 +HGNC:43253 RNA5SP353 RNA, 5S ribosomal pseudogene 353 pseudogene pseudogene Approved 12p13.1 12p13.1 RN5S353 RNA, 5S ribosomal 353 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873613 ENSG00000201476 uc058llb.1 NG_033498 HGNC:43253 +HGNC:43254 RNA5SP354 RNA, 5S ribosomal pseudogene 354 pseudogene pseudogene Approved 12p11.23 12p11.23 RN5S354 RNA, 5S ribosomal 354 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873614 ENSG00000212549 uc058mcw.1 NG_042142 HGNC:43254 +HGNC:43255 RNA5SP355 RNA, 5S ribosomal pseudogene 355 pseudogene pseudogene Approved 12p11.22 12p11.22 RN5S355 RNA, 5S ribosomal 355 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479009 ENSG00000202187 uc058mhq.1 NG_045743 HGNC:43255 +HGNC:43256 RNA5SP356 RNA, 5S ribosomal pseudogene 356 pseudogene pseudogene Approved 12p11.22 12p11.22 RN5S356 RNA, 5S ribosomal 356 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873615 ENSG00000251781 uc058mjm.1 NG_033501 HGNC:43256 +HGNC:43257 RNA5SP357 RNA, 5S ribosomal pseudogene 357 pseudogene pseudogene Approved 12p11.1 12p11.1 RN5S357 RNA, 5S ribosomal 357 2012-01-30 2012-08-09 2012-08-09 2015-01-30 100873616 ENSG00000272435 uc031yyv.2 NG_033503 HGNC:43257 +HGNC:43258 RNA5SP358 RNA, 5S ribosomal pseudogene 358 pseudogene pseudogene Approved 12q12 12q12 RN5S358 RNA, 5S ribosomal 358 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873617 ENSG00000199843 uc031yzb.2 NG_033505 HGNC:43258 +HGNC:43259 RNA5SP359 RNA, 5S ribosomal pseudogene 359 pseudogene pseudogene Approved 12q12 12q12 RN5S359 RNA, 5S ribosomal 359 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873618 ENSG00000201708 uc058mqu.1 NG_033507 HGNC:43259 +HGNC:43260 RNA5SP360 RNA, 5S ribosomal pseudogene 360 pseudogene pseudogene Approved 12q12 12q12 RN5S360 RNA, 5S ribosomal 360 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873619 ENSG00000252364 uc058mtj.1 NG_033509 HGNC:43260 +HGNC:43261 RNA5SP361 RNA, 5S ribosomal pseudogene 361 pseudogene pseudogene Approved 12q12 12q12 RN5S361 RNA, 5S ribosomal 361 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873620 ENSG00000199556 uc058mxn.1 NG_033511 HGNC:43261 +HGNC:43262 RNA5SP362 RNA, 5S ribosomal pseudogene 362 pseudogene pseudogene Approved 12q14.3 12q14.3 RN5S362 RNA, 5S ribosomal 362 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873621 ENSG00000251857 uc021qzz.1 NG_033513 HGNC:43262 +HGNC:43263 RNA5SP363 RNA, 5S ribosomal pseudogene 363 pseudogene pseudogene Approved 12q21.2 12q21.2 RN5S363 RNA, 5S ribosomal 363 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873622 ENSG00000201942 uc058rif.1 NG_033515 HGNC:43263 +HGNC:43264 RNA5SP364 RNA, 5S ribosomal pseudogene 364 pseudogene pseudogene Approved 12q21.32 12q21.32 RN5S364 RNA, 5S ribosomal 364 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873623 ENSG00000252747 uc058rnx.1 NG_033517 HGNC:43264 +HGNC:43265 RNA5SP365 RNA, 5S ribosomal pseudogene 365 pseudogene pseudogene Approved 12q21.33 12q21.33 RN5S365 RNA, 5S ribosomal 365 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873624 ENSG00000252207 uc058rps.1 NG_033519 HGNC:43265 +HGNC:43266 RNA5SP366 RNA, 5S ribosomal pseudogene 366 pseudogene pseudogene Approved 12q23.1 12q23.1 RN5S366 RNA, 5S ribosomal 366 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873625 ENSG00000202324 uc021rcl.1 NG_029860 HGNC:43266 +HGNC:43267 RNA5SP367 RNA, 5S ribosomal pseudogene 367 pseudogene pseudogene Approved 12q23.2 12q23.2 RN5S367 RNA, 5S ribosomal 367 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873626 ENSG00000252366 uc058shb.1 NG_033523 HGNC:43267 +HGNC:43268 RNA5SP368 RNA, 5S ribosomal pseudogene 368 pseudogene pseudogene Approved 12q23.2 12q23.2 RN5S368 RNA, 5S ribosomal 368 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873627 ENSG00000201168 uc058sik.1 NG_021243 HGNC:43268 +HGNC:43269 RNA5SP369 RNA, 5S ribosomal pseudogene 369 pseudogene pseudogene Approved 12q23.2 12q23.2 RN5S369 RNA, 5S ribosomal 369 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873628 ENSG00000223046 uc058sip.1 NG_033527 HGNC:43269 +HGNC:43270 RNA5SP370 RNA, 5S ribosomal pseudogene 370 pseudogene pseudogene Approved 12q23.3 12q23.3 RN5S370 RNA, 5S ribosomal 370 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106480765 ENSG00000199415 uc031zlm.2 NG_043905 HGNC:43270 +HGNC:43271 RNA5SP371 RNA, 5S ribosomal pseudogene 371 pseudogene pseudogene Approved 12q23.3 12q23.3 RN5S371 RNA, 5S ribosomal 371 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873629 ENSG00000222302 uc058ssy.1 NG_052621 HGNC:43271 +HGNC:43272 RNA5SP372 RNA, 5S ribosomal pseudogene 372 pseudogene pseudogene Approved 12q24.11 12q24.11 RN5S372 RNA, 5S ribosomal 372 2012-01-30 2012-08-09 2012-08-09 2014-11-18 100873630 ENSG00000212138 uc058sxc.1 NG_033531 HGNC:43272 +HGNC:43273 RNA5SP373 RNA, 5S ribosomal pseudogene 373 pseudogene pseudogene Approved 12q24.12 12q24.12 RN5S373 RNA, 5S ribosomal 373 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873631 ENSG00000253080 uc058tgr.1 NG_033533 HGNC:43273 +HGNC:43274 RNA5SP374 RNA, 5S ribosomal pseudogene 374 pseudogene pseudogene Approved 12q24.23 12q24.23 RN5S374 RNA, 5S ribosomal 374 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873632 ENSG00000199809 uc058two.1 NG_033535 HGNC:43274 +HGNC:43275 RNA5SP375 RNA, 5S ribosomal pseudogene 375 pseudogene pseudogene Approved 12q24.31 12q24.31 RN5S375 RNA, 5S ribosomal 375 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873633 ENSG00000199845 uc058uss.1 NG_033537 HGNC:43275 +HGNC:43276 RNA5SP376 RNA, 5S ribosomal pseudogene 376 pseudogene pseudogene Approved 12q24.33 12q24.33 RN5S376 RNA, 5S ribosomal 376 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479010 ENSG00000212251 uc058vft.1 NG_044179 HGNC:43276 +HGNC:43277 RNA5SP377 RNA, 5S ribosomal pseudogene 377 pseudogene pseudogene Approved 12q24.33 12q24.33 RN5S377 RNA, 5S ribosomal 377 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479011 ENSG00000212154 uc058vgf.1 NG_044188 HGNC:43277 +HGNC:43278 RNA5SP378 RNA, 5S ribosomal pseudogene 378 pseudogene pseudogene Approved 12q24.33 12q24.33 RN5S378 RNA, 5S ribosomal 378 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873634 ENSG00000200516 uc058vgr.1 NG_033539 HGNC:43278 +HGNC:43279 RNA5SP379 RNA, 5S ribosomal pseudogene 379 pseudogene pseudogene Approved 12q24.33 12q24.33 RN5S379 RNA, 5S ribosomal 379 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873635 ENSG00000201469 uc058vll.1 NG_034022 HGNC:43279 +HGNC:43280 RNA5SP380 RNA, 5S ribosomal pseudogene 380 pseudogene pseudogene Approved 14q11.2 14q11.2 RN5S380 RNA, 5S ribosomal 380 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873636 ENSG00000252999 uc058yqy.1 NG_033543 HGNC:43280 +HGNC:43282 RNA5SP382 RNA, 5S ribosomal pseudogene 382 pseudogene pseudogene Approved 14q11.2 14q11.2 RN5S382 RNA, 5S ribosomal 382 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873637 ENSG00000200225 uc058yso.1 NG_033545 HGNC:43282 +HGNC:43283 RNA5SP383 RNA, 5S ribosomal pseudogene 383 pseudogene pseudogene Approved 14q12 14q12 RN5S383 RNA, 5S ribosomal 383 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873638 ENSG00000199804 uc058zyy.1 NG_033547 HGNC:43283 +HGNC:43284 RNA5SP384 RNA, 5S ribosomal pseudogene 384 pseudogene pseudogene Approved 14q21.3 14q21.3 RN5S384 RNA, 5S ribosomal 384 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873639 ENSG00000252424 uc059bfd.1 NG_033549 HGNC:43284 +HGNC:43285 RNA5SP385 RNA, 5S ribosomal pseudogene 385 pseudogene pseudogene Approved 14q22.1 14q22.1 RN5S385 RNA, 5S ribosomal 385 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873640 ENSG00000251756 uc059bmd.1 NG_033551 HGNC:43285 +HGNC:43286 RNA5SP386 RNA, 5S ribosomal pseudogene 386 pseudogene pseudogene Approved 14q24.1 14q24.1 RN5S386 RNA, 5S ribosomal 386 2012-01-30 2012-08-09 2012-08-09 2015-01-30 100873641 ENSG00000272253 uc059cqz.1 NG_033553 HGNC:43286 +HGNC:43287 RNA5SP387 RNA, 5S ribosomal pseudogene 387 pseudogene pseudogene Approved 14q24.3 14q24.3 RN5S387 RNA, 5S ribosomal 387 2012-01-30 2012-08-09 2012-08-09 2014-11-19 107133508 ENSG00000201096 uc032bgi.2 NG_027694 HGNC:43287 +HGNC:43288 RNA5SP388 RNA, 5S ribosomal pseudogene 388 pseudogene pseudogene Approved 14q24.3 14q24.3 RN5S388 RNA, 5S ribosomal 388 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873642 ENSG00000199454 uc021rwx.1 NG_033555 HGNC:43288 +HGNC:43289 RNA5SP389 RNA, 5S ribosomal pseudogene 389 pseudogene pseudogene Approved 14q32.33 14q32.33 RN5S389 RNA, 5S ribosomal 389 2012-01-30 2012-08-09 2012-08-09 2014-11-18 106480766 ENSG00000199480 uc032bnn.2 NG_043912 HGNC:43289 +HGNC:43290 RNA5SP390 RNA, 5S ribosomal pseudogene 390 pseudogene pseudogene Approved 15q12 15q12 RN5S390 RNA, 5S ribosomal 390 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873643 ENSG00000222123 uc059gwn.1 NG_033557 HGNC:43290 +HGNC:43291 RNA5SP391 RNA, 5S ribosomal pseudogene 391 pseudogene pseudogene Approved 15q12 15q12 RN5S391 RNA, 5S ribosomal 391 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873644 ENSG00000200326 uc059gxy.1 NG_033559 HGNC:43291 +HGNC:43292 RNA5SP392 RNA, 5S ribosomal pseudogene 392 pseudogene pseudogene Approved 15q15.1 15q15.1 RN5S392 RNA, 5S ribosomal 392 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873645 ENSG00000252714 uc059hrg.1 NG_033561 HGNC:43292 +HGNC:43293 RNA5SP393 RNA, 5S ribosomal pseudogene 393 pseudogene pseudogene Approved 15q15.1 15q15.1 RN5S393 RNA, 5S ribosomal 393 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873646 ENSG00000200293 uc021sjn.1 NG_033563 HGNC:43293 +HGNC:43294 RNA5SP394 RNA, 5S ribosomal pseudogene 394 pseudogene pseudogene Approved 15q21.2 15q21.2 RN5S394 RNA, 5S ribosomal 394 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873647 ENSG00000201086 uc059jcn.1 NG_033565 HGNC:43294 +HGNC:43295 RNA5SP395 RNA, 5S ribosomal pseudogene 395 pseudogene pseudogene Approved 15q21.2 15q21.2 RN5S395 RNA, 5S ribosomal 395 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873648 ENSG00000252376 uc059jdt.1 NG_033567 HGNC:43295 +HGNC:43296 RNA5SP396 RNA, 5S ribosomal pseudogene 396 pseudogene pseudogene Approved 15q22.2 15q22.2 RN5S396 RNA, 5S ribosomal 396 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873649 ENSG00000201704 uc059jva.1 NG_033569 HGNC:43296 +HGNC:43297 RNA5SP397 RNA, 5S ribosomal pseudogene 397 pseudogene pseudogene Approved 15q22.2 15q22.2 RN5S397 RNA, 5S ribosomal 397 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873650 ENSG00000212625 uc059jyw.1 NG_033571 HGNC:43297 +HGNC:43299 RNA5SP399 RNA, 5S ribosomal pseudogene 399 pseudogene pseudogene Approved 15q23 15q23 RN5S399 RNA, 5S ribosomal 399 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873652 ENSG00000200873 uc059kyh.1 NG_033575 HGNC:43299 +HGNC:43300 RNA5SP400 RNA, 5S ribosomal pseudogene 400 pseudogene pseudogene Approved 15q25.3 15q25.3 RN5S400 RNA, 5S ribosomal 400 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873653 ENSG00000252964 uc021stz.1 NG_033577 HGNC:43300 +HGNC:43301 RNA5SP401 RNA, 5S ribosomal pseudogene 401 pseudogene pseudogene Approved 15q26.2 15q26.2 RN5S401 RNA, 5S ribosomal 401 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873654 ENSG00000251729 uc059nrc.1 NG_033579 HGNC:43301 +HGNC:43302 RNA5SP402 RNA, 5S ribosomal pseudogene 402 pseudogene pseudogene Approved 15q26.3 15q26.3 RN5S402 RNA, 5S ribosomal 402 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873655 ENSG00000252957 uc059nvk.1 NG_016287 HGNC:43302 +HGNC:43303 RNA5SP403 RNA, 5S ribosomal pseudogene 403 pseudogene pseudogene Approved 16p13.2 16p13.2 RN5S403 RNA, 5S ribosomal 403 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479012 ENSG00000200468 uc021tcu.1 NG_044192 HGNC:43303 +HGNC:43304 RNA5SP404 RNA, 5S ribosomal pseudogene 404 pseudogene pseudogene Approved 16p13.2 16p13.2 RN5S404 RNA, 5S ribosomal 404 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873656 ENSG00000252927 uc021tcv.1 NG_033583 HGNC:43304 +HGNC:43305 RNA5SP405 RNA, 5S ribosomal pseudogene 405 pseudogene pseudogene Approved 16p12.1 16p12.1 RN5S405 RNA, 5S ribosomal 405 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873657 ENSG00000199929 uc021tfq.1 NG_033585 HGNC:43305 +HGNC:43306 RNA5SP406 RNA, 5S ribosomal pseudogene 406 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S406 RNA, 5S ribosomal 406 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873658 ENSG00000251915 uc059tsq.1 NG_033587 HGNC:43306 +HGNC:43307 RNA5SP407 RNA, 5S ribosomal pseudogene 407 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S407 RNA, 5S ribosomal 407 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873659 ENSG00000222207 uc059tsr.1 NG_033589 HGNC:43307 +HGNC:43308 RNA5SP408 RNA, 5S ribosomal pseudogene 408 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S408 RNA, 5S ribosomal 408 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873660 ENSG00000251924 uc059tss.1 NG_033591 HGNC:43308 +HGNC:43309 RNA5SP409 RNA, 5S ribosomal pseudogene 409 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S409 RNA, 5S ribosomal 409 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873661 ENSG00000252624 uc059tst.1 NG_033594 HGNC:43309 +HGNC:43310 RNA5SP410 RNA, 5S ribosomal pseudogene 410 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S410 RNA, 5S ribosomal 410 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873662 ENSG00000252094 uc059tsv.1 NG_033596 HGNC:43310 +HGNC:43311 RNA5SP411 RNA, 5S ribosomal pseudogene 411 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S411 RNA, 5S ribosomal 411 2012-01-30 2012-08-09 2012-08-09 2015-01-30 100887740 ENSG00000276599 uc059tsw.1 NR_049740 HGNC:43311 +HGNC:43312 RNA5SP412 RNA, 5S ribosomal pseudogene 412 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S412 RNA, 5S ribosomal 412 2012-01-30 2012-08-09 2012-08-09 2015-01-30 100873663 ENSG00000277004 uc059tsx.1 NG_033598 HGNC:43312 +HGNC:43313 RNA5SP413 RNA, 5S ribosomal pseudogene 413 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S413 RNA, 5S ribosomal 413 2012-01-30 2012-08-09 2012-08-09 2014-11-18 100873664 ENSG00000252182 uc059tsy.1 NG_033600 HGNC:43313 +HGNC:43314 RNA5SP414 RNA, 5S ribosomal pseudogene 414 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S414 RNA, 5S ribosomal 414 2012-01-30 2012-08-09 2012-08-09 2015-01-30 100873665 ENSG00000274228 uc059tta.1 NG_033602 HGNC:43314 +HGNC:43315 RNA5SP415 RNA, 5S ribosomal pseudogene 415 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S415 RNA, 5S ribosomal 415 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873666 ENSG00000253055 uc059ttb.1 NG_033604 HGNC:43315 +HGNC:43316 RNA5SP416 RNA, 5S ribosomal pseudogene 416 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S416 RNA, 5S ribosomal 416 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873667 ENSG00000252647 uc059ttc.1 NG_033606 HGNC:43316 +HGNC:43317 RNA5SP417 RNA, 5S ribosomal pseudogene 417 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S417 RNA, 5S ribosomal 417 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873668 ENSG00000252268 uc059ttd.1 NG_033608 HGNC:43317 +HGNC:43318 RNA5SP418 RNA, 5S ribosomal pseudogene 418 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S418 RNA, 5S ribosomal 418 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873669 ENSG00000251760 uc059tte.1 NG_033610 HGNC:43318 +HGNC:43319 RNA5SP419 RNA, 5S ribosomal pseudogene 419 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S419 RNA, 5S ribosomal 419 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873670 ENSG00000251717 uc059ttf.1 NG_033612 HGNC:43319 +HGNC:43320 RNA5SP420 RNA, 5S ribosomal pseudogene 420 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S420 RNA, 5S ribosomal 420 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873671 ENSG00000252806 uc059ttg.1 NG_033614 HGNC:43320 +HGNC:43321 RNA5SP421 RNA, 5S ribosomal pseudogene 421 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S421 RNA, 5S ribosomal 421 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873672 ENSG00000252673 uc059tth.1 NG_033616 HGNC:43321 +HGNC:43322 RNA5SP422 RNA, 5S ribosomal pseudogene 422 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S422 RNA, 5S ribosomal 422 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873673 ENSG00000252587 uc059tti.1 NG_033618 HGNC:43322 +HGNC:43323 RNA5SP423 RNA, 5S ribosomal pseudogene 423 pseudogene pseudogene Approved 16p11.1 16p11.1 RN5S423 RNA, 5S ribosomal 423 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873674 ENSG00000252936 uc059ttj.1 NG_033620 HGNC:43323 +HGNC:43324 RNA5SP424 RNA, 5S ribosomal pseudogene 424 pseudogene pseudogene Approved 16q12.1 16q12.1 RN5S424 RNA, 5S ribosomal 424 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873675 ENSG00000212290 uc059tvv.1 NG_033622 HGNC:43324 +HGNC:43325 RNA5SP425 RNA, 5S ribosomal pseudogene 425 pseudogene pseudogene Approved 16q12.1 16q12.1 RN5S425 RNA, 5S ribosomal 425 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873676 ENSG00000222268 uc059twg.1 NG_016598 HGNC:43325 +HGNC:43326 RNA5SP426 RNA, 5S ribosomal pseudogene 426 pseudogene pseudogene Approved 16q12.1 16q12.1 RN5S426 RNA, 5S ribosomal 426 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873677 ENSG00000199771 uc032dzo.2 NG_033626 HGNC:43326 +HGNC:43327 RNA5SP427 RNA, 5S ribosomal pseudogene 427 pseudogene pseudogene Approved 16q12.2 16q12.2 RN5S427 RNA, 5S ribosomal 427 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873678 ENSG00000202193 uc059ufa.1 NG_033628 HGNC:43327 +HGNC:43328 RNA5SP428 RNA, 5S ribosomal pseudogene 428 pseudogene pseudogene Approved 16q21 16q21 RN5S428 RNA, 5S ribosomal 428 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873679 ENSG00000201999 uc021tjk.1 NG_033630 HGNC:43328 +HGNC:43329 RNA5SP429 RNA, 5S ribosomal pseudogene 429 pseudogene pseudogene Approved 16q22.1 16q22.1 RN5S429 RNA, 5S ribosomal 429 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106480767 ENSG00000200558 uc032edn.2 NG_008021 HGNC:43329 +HGNC:43330 RNA5SP430 RNA, 5S ribosomal pseudogene 430 pseudogene pseudogene Approved 16q23.1 16q23.1 RN5S430 RNA, 5S ribosomal 430 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873680 ENSG00000199299 uc059xhz.1 NG_033632 HGNC:43330 +HGNC:43331 RNA5SP431 RNA, 5S ribosomal pseudogene 431 pseudogene pseudogene Approved 16q23.2 16q23.2 RN5S431 RNA, 5S ribosomal 431 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873681 ENSG00000222244 uc059xla.1 NG_033634 HGNC:43331 +HGNC:43332 RNA5SP432 RNA, 5S ribosomal pseudogene 432 pseudogene pseudogene Approved 16q23.3 16q23.3 RN5S432 RNA, 5S ribosomal 432 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873682 ENSG00000199350 uc059xth.1 NG_033636 HGNC:43332 +HGNC:43333 RNA5SP433 RNA, 5S ribosomal pseudogene 433 pseudogene pseudogene Approved 16q24.1 16q24.1 RN5S433 RNA, 5S ribosomal 433 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873683 ENSG00000201361 uc021tly.1 NG_033638 HGNC:43333 +HGNC:43334 RNA5SP434 RNA, 5S ribosomal pseudogene 434 pseudogene pseudogene Approved 17p13.2 17p13.2 RN5S434 RNA, 5S ribosomal 434 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873684 ENSG00000252456 uc021tnx.1 NG_033640 HGNC:43334 +HGNC:43335 RNA5SP435 RNA, 5S ribosomal pseudogene 435 pseudogene pseudogene Approved 17p13.1 17p13.1 RN5S435 RNA, 5S ribosomal 435 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479013 ENSG00000200914 uc060aeg.1 NG_045758 HGNC:43335 +HGNC:43336 RNA5SP436 RNA, 5S ribosomal pseudogene 436 pseudogene pseudogene Approved 17p12 17p12 RN5S436 RNA, 5S ribosomal 436 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873685 ENSG00000251829 uc060boz.1 NG_033642 HGNC:43336 +HGNC:43337 RNA5SP437 RNA, 5S ribosomal pseudogene 437 pseudogene pseudogene Approved 17q11.2 17q11.2 RN5S437 RNA, 5S ribosomal 437 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873686 ENSG00000253058 uc060dsk.1 NG_033644 HGNC:43337 +HGNC:43338 RNA5SP438 RNA, 5S ribosomal pseudogene 438 pseudogene pseudogene Approved 17q12 17q12 RN5S438 RNA, 5S ribosomal 438 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873687 ENSG00000252370 uc060dxw.1 NG_029763 HGNC:43338 +HGNC:43339 RNA5SP439 RNA, 5S ribosomal pseudogene 439 pseudogene pseudogene Approved 17q12 17q12 RN5S439 RNA, 5S ribosomal 439 2012-01-30 2012-08-09 2012-08-09 2015-01-30 106479014 ENSG00000274164 uc060egr.1 NG_044204 HGNC:43339 +HGNC:43340 RNA5SP440 RNA, 5S ribosomal pseudogene 440 pseudogene pseudogene Approved 17q12 17q12 RN5S440 RNA, 5S ribosomal 440 2012-01-30 2012-08-09 2012-08-09 2015-01-30 100873688 ENSG00000276036 uc060enf.1 NG_033648 HGNC:43340 +HGNC:43341 RNA5SP441 RNA, 5S ribosomal pseudogene 441 pseudogene pseudogene Approved 17q21.2 17q21.2 RN5S441 RNA, 5S ribosomal 441 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873689 ENSG00000252618 uc060eyo.1 NG_033650 HGNC:43341 +HGNC:43342 RNA5SP442 RNA, 5S ribosomal pseudogene 442 pseudogene pseudogene Approved 17q21.2 17q21.2 RN5S442 RNA, 5S ribosomal 442 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106480768 ENSG00000201920 uc060fcs.1 NG_043920 HGNC:43342 +HGNC:43343 RNA5SP443 RNA, 5S ribosomal pseudogene 443 pseudogene pseudogene Approved 17q21.31 17q21.31 RN5S443 RNA, 5S ribosomal 443 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106481745 ENSG00000199953 uc060ghb.1 NG_043579 HGNC:43343 +HGNC:43344 RNA5SP444 RNA, 5S ribosomal pseudogene 444 pseudogene pseudogene Approved 17q24.2 17q24.2 RN5S444 RNA, 5S ribosomal 444 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873690 ENSG00000252653 uc060izx.1 NG_033652 HGNC:43344 +HGNC:43345 RNA5SP445 RNA, 5S ribosomal pseudogene 445 pseudogene pseudogene Approved 17q24.2 17q24.2 RN5S445 RNA, 5S ribosomal 445 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873691 ENSG00000251698 uc060jag.1 NG_033654 HGNC:43345 +HGNC:43346 RNA5SP446 RNA, 5S ribosomal pseudogene 446 pseudogene pseudogene Approved 17q24.2 17q24.2 RN5S446 RNA, 5S ribosomal 446 2012-01-30 2012-08-09 2012-08-09 2014-11-18 100873692 ENSG00000251764 uc021ubz.1 NG_033656 HGNC:43346 +HGNC:43347 RNA5SP447 RNA, 5S ribosomal pseudogene 447 pseudogene pseudogene Approved 17q24.2 17q24.2 RN5S447 RNA, 5S ribosomal 447 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873693 ENSG00000200619 uc060jaw.1 NG_033658 HGNC:43347 +HGNC:43348 RNA5SP448 RNA, 5S ribosomal pseudogene 448 pseudogene pseudogene Approved 17q25.1 17q25.1 RN5S448 RNA, 5S ribosomal 448 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479015 ENSG00000200021 uc060joe.1 NG_044214 HGNC:43348 +HGNC:43349 RNA5SP449 RNA, 5S ribosomal pseudogene 449 pseudogene pseudogene Approved 18p11.22 18p11.22 RN5S449 RNA, 5S ribosomal 449 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873694 ENSG00000252680 uc060nhv.1 NG_033660 HGNC:43349 +HGNC:43350 RNA5SP450 RNA, 5S ribosomal pseudogene 450 pseudogene pseudogene Approved 18p11.22 18p11.22 RN5S450 RNA, 5S ribosomal 450 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873695 ENSG00000223138 uc060nih.1 NG_033662 HGNC:43350 +HGNC:43351 RNA5SP451 RNA, 5S ribosomal pseudogene 451 pseudogene pseudogene Approved 18q11.2 18q11.2 RN5S451 RNA, 5S ribosomal 451 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873696 ENSG00000222520 uc060nve.1 NG_033664 HGNC:43351 +HGNC:43352 RNA5SP452 RNA, 5S ribosomal pseudogene 452 pseudogene pseudogene Approved 18q11.2 18q11.2 RN5S452 RNA, 5S ribosomal 452 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873697 ENSG00000199874 uc060oan.1 NG_033666 HGNC:43352 +HGNC:43353 RNA5SP453 RNA, 5S ribosomal pseudogene 453 pseudogene pseudogene Approved 18q12.1 18q12.1 RN5S453 RNA, 5S ribosomal 453 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873698 ENSG00000199373 uc060ohj.1 NG_033668 HGNC:43353 +HGNC:43354 RNA5SP454 RNA, 5S ribosomal pseudogene 454 pseudogene pseudogene Approved 18q12.3 18q12.3 RN5S454 RNA, 5S ribosomal 454 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873699 ENSG00000253040 uc060orr.1 NG_033670 HGNC:43354 +HGNC:43355 RNA5SP455 RNA, 5S ribosomal pseudogene 455 pseudogene pseudogene Approved 18q12.3 18q12.3 RN5S455 RNA, 5S ribosomal 455 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873700 ENSG00000202060 uc060osb.1 NG_033672 HGNC:43355 +HGNC:43356 RNA5SP456 RNA, 5S ribosomal pseudogene 456 pseudogene pseudogene Approved 18q21.1 18q21.1 RN5S456 RNA, 5S ribosomal 456 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873701 ENSG00000200872 uc021ujp.1 NG_033674 HGNC:43356 +HGNC:43357 RNA5SP457 RNA, 5S ribosomal pseudogene 457 pseudogene pseudogene Approved 18q21.1 18q21.1 RN5S457 RNA, 5S ribosomal 457 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873702 ENSG00000200527 uc060pcw.1 NG_033676 HGNC:43357 +HGNC:43358 RNA5SP458 RNA, 5S ribosomal pseudogene 458 pseudogene pseudogene Approved 18q21.1 18q21.1 RN5S458 RNA, 5S ribosomal 458 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479016 ENSG00000251997 uc060peg.1 NG_044221 HGNC:43358 +HGNC:43359 RNA5SP459 RNA, 5S ribosomal pseudogene 459 pseudogene pseudogene Approved 18q21.2 18q21.2 RN5S459 RNA, 5S ribosomal 459 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873703 ENSG00000252437 uc060pie.1 NG_033678 HGNC:43359 +HGNC:43360 RNA5SP460 RNA, 5S ribosomal pseudogene 460 pseudogene pseudogene Approved 18q22.3 18q22.3 RN5S460 RNA, 5S ribosomal 460 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873704 ENSG00000252598 uc060qap.1 NG_033680 HGNC:43360 +HGNC:43361 RNA5SP461 RNA, 5S ribosomal pseudogene 461 pseudogene pseudogene Approved 18q23 18q23 RN5S461 RNA, 5S ribosomal 461 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873705 ENSG00000252260 uc060qhy.1 NG_033682 HGNC:43361 +HGNC:43362 RNA5SP462 RNA, 5S ribosomal pseudogene 462 pseudogene pseudogene Approved 19p13.3 19p13.3 RN5S462 RNA, 5S ribosomal 462 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873706 ENSG00000252539 uc060qod.1 NG_033684 HGNC:43362 +HGNC:43363 RNA5SP463 RNA, 5S ribosomal pseudogene 463 pseudogene pseudogene Approved 19p13.2 19p13.2 RN5S463 RNA, 5S ribosomal 463 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873707 ENSG00000199900 uc032hlr.2 NG_033686 HGNC:43363 +HGNC:43364 RNA5SP464 RNA, 5S ribosomal pseudogene 464 pseudogene pseudogene Approved 19p13.2 19p13.2 RN5S464 RNA, 5S ribosomal 464 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873708 ENSG00000252060 uc060two.1 NG_033688 HGNC:43364 +HGNC:43365 RNA5SP465 RNA, 5S ribosomal pseudogene 465 pseudogene pseudogene Approved 19p13.2 19p13.2 RN5S465 RNA, 5S ribosomal 465 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873709 ENSG00000212497 uc060twz.1 NG_033690 HGNC:43365 +HGNC:43366 RNA5SP466 RNA, 5S ribosomal pseudogene 466 pseudogene pseudogene Approved 19p13.2 19p13.2 RN5S466 RNA, 5S ribosomal 466 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873710 ENSG00000252546 uc060txe.1 NG_033692 HGNC:43366 +HGNC:43367 RNA5SP467 RNA, 5S ribosomal pseudogene 467 pseudogene pseudogene Approved 19p13.2 19p13.2 RN5S467 RNA, 5S ribosomal 467 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873711 ENSG00000212576 uc060txl.1 NG_033694 HGNC:43367 +HGNC:43368 RNA5SP468 RNA, 5S ribosomal pseudogene 468 pseudogene pseudogene Approved 19p13.11 19p13.11 RN5S468 RNA, 5S ribosomal 468 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106480769 ENSG00000252591 uc060vnt.1 NG_029893 HGNC:43368 +HGNC:43369 RNA5SP469 RNA, 5S ribosomal pseudogene 469 pseudogene pseudogene Approved 19p12 19p12 RN5S469 RNA, 5S ribosomal 469 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873712 ENSG00000201035 uc032hqr.2 NG_033696 HGNC:43369 +HGNC:43370 RNA5SP470 RNA, 5S ribosomal pseudogene 470 pseudogene pseudogene Approved 19q12 19q12 RN5S470 RNA, 5S ribosomal 470 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873713 ENSG00000252272 uc021urx.1 NG_033698 HGNC:43370 +HGNC:43371 RNA5SP471 RNA, 5S ribosomal pseudogene 471 pseudogene pseudogene Approved 19q12 19q12 RN5S471 RNA, 5S ribosomal 471 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873714 ENSG00000252780 uc060wqh.1 NG_033700 HGNC:43371 +HGNC:43372 RNA5SP472 RNA, 5S ribosomal pseudogene 472 pseudogene pseudogene Approved 19q13.11 19q13.11 RN5S472 RNA, 5S ribosomal 472 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873715 ENSG00000200738 uc060wqy.1 NG_033702 HGNC:43372 +HGNC:43373 RNA5SP473 RNA, 5S ribosomal pseudogene 473 pseudogene pseudogene Approved 19q13.43 19q13.43 RN5S473 RNA, 5S ribosomal 473 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479017 ENSG00000252211 uc061dry.1 NG_044228 HGNC:43373 +HGNC:43374 RNA5SP474 RNA, 5S ribosomal pseudogene 474 pseudogene pseudogene Approved 20p13 20p13 RN5S474 RNA, 5S ribosomal 474 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873716 ENSG00000212536 uc021wah.1 NG_053057 HGNC:43374 +HGNC:43375 RNA5SP475 RNA, 5S ribosomal pseudogene 475 pseudogene pseudogene Approved 20p12.1 20p12.1 RN5S475 RNA, 5S ribosomal 475 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873717 ENSG00000222500 uc061vna.1 NG_054905 HGNC:43375 +HGNC:43376 RNA5SP476 RNA, 5S ribosomal pseudogene 476 pseudogene pseudogene Approved 20p11.23 20p11.23 RN5S476 RNA, 5S ribosomal 476 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873718 ENSG00000252422 uc061vqg.1 NG_033708 HGNC:43376 +HGNC:43377 RNA5SP477 RNA, 5S ribosomal pseudogene 477 pseudogene pseudogene Approved 20p11.23 20p11.23 RN5S477 RNA, 5S ribosomal 477 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873719 ENSG00000199509 uc061vtq.1 NG_033122 HGNC:43377 +HGNC:43378 RNA5SP478 RNA, 5S ribosomal pseudogene 478 pseudogene pseudogene Approved 20p11.21 20p11.21 RN5S478 RNA, 5S ribosomal 478 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873720 ENSG00000201527 uc061vuz.1 NG_033712 HGNC:43378 +HGNC:43379 RNA5SP479 RNA, 5S ribosomal pseudogene 479 pseudogene pseudogene Approved 20p11.21 20p11.21 RN5S479 RNA, 5S ribosomal 479 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873721 ENSG00000201728 uc061vvl.1 NG_053071 HGNC:43379 +HGNC:43380 RNA5SP480 RNA, 5S ribosomal pseudogene 480 pseudogene pseudogene Approved 20q11.21 20q11.21 RN5S480 RNA, 5S ribosomal 480 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873722 ENSG00000252649 uc061wbg.1 NG_033716 HGNC:43380 +HGNC:43381 RNA5SP481 RNA, 5S ribosomal pseudogene 481 pseudogene pseudogene Approved 20q11.21 20q11.21 RN5S481 RNA, 5S ribosomal 481 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873723 ENSG00000252623 uc032pfx.2 NG_033718 HGNC:43381 +HGNC:43382 RNA5SP482 RNA, 5S ribosomal pseudogene 482 pseudogene pseudogene Approved 20q11.21 20q11.21 RN5S482 RNA, 5S ribosomal 482 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873724 ENSG00000212571 uc061wdm.1 NG_029471 HGNC:43382 +HGNC:43383 RNA5SP483 RNA, 5S ribosomal pseudogene 483 pseudogene pseudogene Approved 20q11.22 20q11.22 RN5S483 RNA, 5S ribosomal 483 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873725 ENSG00000200301 uc061wla.1 NG_033721 HGNC:43383 +HGNC:43384 RNA5SP484 RNA, 5S ribosomal pseudogene 484 pseudogene pseudogene Approved 20q12 20q12 RN5S484 RNA, 5S ribosomal 484 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873726 ENSG00000238908 uc021wds.1 NG_033723 HGNC:43384 +HGNC:43385 RNA5SP485 RNA, 5S ribosomal pseudogene 485 pseudogene pseudogene Approved 20q13.12 20q13.12 RN5S485 RNA, 5S ribosomal 485 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873727 ENSG00000201923 uc021wek.1 NG_033725 HGNC:43385 +HGNC:43386 RNA5SP486 RNA, 5S ribosomal pseudogene 486 pseudogene pseudogene Approved 20q13.13 20q13.13 RN5S486 RNA, 5S ribosomal 486 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873728 ENSG00000251770 uc061xoq.1 NG_033281 HGNC:43386 +HGNC:43387 RNA5SP487 RNA, 5S ribosomal pseudogene 487 pseudogene pseudogene Approved 20q13.2 20q13.2 RN5S487 RNA, 5S ribosomal 487 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873729 ENSG00000222118 uc061xvz.1 NG_033283 HGNC:43387 +HGNC:43388 RNA5SP488 RNA, 5S ribosomal pseudogene 488 pseudogene pseudogene Approved 21q11.2 21q11.2 RN5S488 RNA, 5S ribosomal 488 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873730 ENSG00000201812 uc061zbc.1 NG_033285 HGNC:43388 +HGNC:43389 RNA5SP489 RNA, 5S ribosomal pseudogene 489 pseudogene pseudogene Approved 21q21.2 21q21.2 RN5S489 RNA, 5S ribosomal 489 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873731 ENSG00000238627 uc021whx.1 NG_033287 HGNC:43389 +HGNC:43390 RNA5SP490 RNA, 5S ribosomal pseudogene 490 pseudogene pseudogene Approved 21q22.11 21q22.11 RN5S490 RNA, 5S ribosomal 490 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873732 ENSG00000252950 uc061znr.1 NG_033289 HGNC:43390 +HGNC:43391 RNA5SP491 RNA, 5S ribosomal pseudogene 491 pseudogene pseudogene Approved 21q22.13 21q22.13 RN5S491 RNA, 5S ribosomal 491 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873733 ENSG00000199806 uc061zyz.1 NG_016193 HGNC:43391 +HGNC:43392 RNA5SP492 RNA, 5S ribosomal pseudogene 492 pseudogene pseudogene Approved 21q22.3 21q22.3 RN5S492 RNA, 5S ribosomal 492 2012-01-30 2012-08-09 2012-08-09 2014-11-18 100873734 ENSG00000223262 uc021wjp.1 NG_033293 HGNC:43392 +HGNC:43393 RNA5SP493 RNA, 5S ribosomal pseudogene 493 pseudogene pseudogene Approved 22q11.21 22q11.21 RN5S493 RNA, 5S ribosomal 493 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873735 ENSG00000200985 uc062cab.1 NG_023054 HGNC:43393 +HGNC:43394 RNA5SP494 RNA, 5S ribosomal pseudogene 494 pseudogene pseudogene Approved 22q12.1 22q12.1 RN5S494 RNA, 5S ribosomal 494 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873736 ENSG00000222585 uc062cmz.1 NG_033297 HGNC:43394 +HGNC:43395 RNA5SP495 RNA, 5S ribosomal pseudogene 495 pseudogene pseudogene Approved 22q12.1 22q12.1 RN5S495 RNA, 5S ribosomal 495 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873737 ENSG00000252267 uc062cot.1 NG_033299 HGNC:43395 +HGNC:43396 RNA5SP496 RNA, 5S ribosomal pseudogene 496 pseudogene pseudogene Approved 22q12.2 22q12.2 RN5S496 RNA, 5S ribosomal 496 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873738 ENSG00000212542 uc062dip.1 NG_033301 HGNC:43396 +HGNC:43397 RNA5SP497 RNA, 5S ribosomal pseudogene 497 pseudogene pseudogene Approved 22q12.3 22q12.3 RN5S497 RNA, 5S ribosomal 497 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873739 ENSG00000251890 uc021wog.1 NG_033303 HGNC:43397 +HGNC:43398 RNA5SP498 RNA, 5S ribosomal pseudogene 498 pseudogene pseudogene Approved Xp22.33 Xp22.33 RN5S498 RNA, 5S ribosomal 498 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106480770 ENSG00000223274 uc065cnn.1 NG_012280 HGNC:43398 +HGNC:43399 RNA5SP499 RNA, 5S ribosomal pseudogene 499 pseudogene pseudogene Approved Xp22.31 Xp22.31 RN5S499 RNA, 5S ribosomal 499 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873550 ENSG00000200852 uc064xxr.1 NG_033392 HGNC:43399 +HGNC:43400 RNA5SP500 RNA, 5S ribosomal pseudogene 500 pseudogene pseudogene Approved Xp21.3 Xp21.3 RN5S500 RNA, 5S ribosomal 500 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873551 ENSG00000201356 uc033dto.2 NG_033394 HGNC:43400 +HGNC:43401 RNA5SP501 RNA, 5S ribosomal pseudogene 501 pseudogene pseudogene Approved Xp21.1 Xp21.1 RN5S501 RNA, 5S ribosomal 501 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873552 ENSG00000222922 uc064ymd.1 NG_012232 HGNC:43401 +HGNC:43402 RNA5SP502 RNA, 5S ribosomal pseudogene 502 pseudogene pseudogene Approved Xp11.4 Xp11.4 RN5S502 RNA, 5S ribosomal 502 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873553 ENSG00000199564 uc022bvb.3 NG_033398 HGNC:43402 +HGNC:43403 RNA5SP503 RNA, 5S ribosomal pseudogene 503 pseudogene pseudogene Approved Xp11.23 Xp11.23 RN5S503 RNA, 5S ribosomal 503 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873554 ENSG00000252856 uc064yww.1 NG_033400 HGNC:43403 +HGNC:43404 RNA5SP504 RNA, 5S ribosomal pseudogene 504 pseudogene pseudogene Approved Xp11.22 Xp11.22 RN5S504 RNA, 5S ribosomal 504 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873555 ENSG00000222608 uc064zij.1 NG_033402 HGNC:43404 +HGNC:43405 RNA5SP505 RNA, 5S ribosomal pseudogene 505 pseudogene pseudogene Approved Xp11.22 Xp11.22 RN5S505 RNA, 5S ribosomal 505 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873556 ENSG00000201618 uc064zlp.1 NG_033404 HGNC:43405 +HGNC:43406 RNA5SP506 RNA, 5S ribosomal pseudogene 506 pseudogene pseudogene Approved Xq13.1 Xq13.1 RN5S506 RNA, 5S ribosomal 506 2012-01-30 2012-08-09 2012-08-09 2015-01-30 100873557 ENSG00000272351 uc033ehg.2 NG_033406 RGD:3581 HGNC:43406 +HGNC:43407 RNA5SP507 RNA, 5S ribosomal pseudogene 507 pseudogene pseudogene Approved Xq13.1 Xq13.1 RN5S507 RNA, 5S ribosomal 507 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873558 ENSG00000200473 uc022byo.1 NG_033408 HGNC:43407 +HGNC:43408 RNA5SP508 RNA, 5S ribosomal pseudogene 508 pseudogene pseudogene Approved Xq13.3 Xq13.3 RN5S508 RNA, 5S ribosomal 508 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873559 ENSG00000223259 uc065aas.1 NG_033410 HGNC:43408 +HGNC:43409 RNA5SP509 RNA, 5S ribosomal pseudogene 509 pseudogene pseudogene Approved Xq21.1 Xq21.1 RN5S509 RNA, 5S ribosomal 509 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873560 ENSG00000201447 uc065aax.1 NG_033412 HGNC:43409 +HGNC:43410 RNA5SP510 RNA, 5S ribosomal pseudogene 510 pseudogene pseudogene Approved Xq21.33 Xq21.33 RN5S510 RNA, 5S ribosomal 510 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873561 ENSG00000201567 uc065aex.1 NG_033414 HGNC:43410 +HGNC:43411 RNA5SP511 RNA, 5S ribosomal pseudogene 511 pseudogene pseudogene Approved Xq22.2 Xq22.2 RN5S511 RNA, 5S ribosomal 511 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873562 ENSG00000222419 uc065amz.1 NG_033416 HGNC:43411 +HGNC:43412 RNA5SP512 RNA, 5S ribosomal pseudogene 512 pseudogene pseudogene Approved Xq23 Xq23 RN5S512 RNA, 5S ribosomal 512 2012-01-30 2012-08-09 2012-08-09 2014-11-18 100873563 ENSG00000201420 uc065asm.1 NG_033418 HGNC:43412 +HGNC:43413 RNA5SP513 RNA, 5S ribosomal pseudogene 513 pseudogene pseudogene Approved Xq25 Xq25 RN5S513 RNA, 5S ribosomal 513 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873564 ENSG00000201518 uc065baz.1 NG_033420 HGNC:43413 +HGNC:43414 RNA5SP514 RNA, 5S ribosomal pseudogene 514 pseudogene pseudogene Approved Xq26.2 Xq26.2 RN5S514 RNA, 5S ribosomal 514 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873565 ENSG00000200587 uc065bdc.1 NG_033422 HGNC:43414 +HGNC:43415 RNA5SP515 RNA, 5S ribosomal pseudogene 515 pseudogene pseudogene Approved Xq26.3 Xq26.3 RN5S515 RNA, 5S ribosomal 515 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873566 ENSG00000201440 uc065bft.1 NG_033424 HGNC:43415 +HGNC:43416 RNA5SP516 RNA, 5S ribosomal pseudogene 516 pseudogene pseudogene Approved Xq27.2 Xq27.2 RN5S516 RNA, 5S ribosomal 516 2012-01-30 2012-08-09 2012-08-09 2014-11-18 100873567 ENSG00000201000 uc065bkn.1 NG_033426 HGNC:43416 +HGNC:43417 RNA5SP517 RNA, 5S ribosomal pseudogene 517 pseudogene pseudogene Approved Xq27.3 Xq27.3 RN5S517 RNA, 5S ribosomal 517 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873568 ENSG00000201594 uc065bla.1 NG_033428 HGNC:43417 +HGNC:43418 RNA5SP518 RNA, 5S ribosomal pseudogene 518 pseudogene pseudogene Approved Yp11.2 Yp11.2 RN5S518 RNA, 5S ribosomal 518 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873569 ENSG00000251766 uc065cre.1 NG_033430 HGNC:43418 +HGNC:43419 RNA5SP519 RNA, 5S ribosomal pseudogene 519 pseudogene pseudogene Approved Yp11.2 Yp11.2 RN5S519 RNA, 5S ribosomal 519 2012-01-30 2012-08-09 2012-08-09 2014-11-19 100873570 ENSG00000252289 uc065crf.1 NG_033432 HGNC:43419 +HGNC:43420 RNA5SP520 RNA, 5S ribosomal pseudogene 520 pseudogene pseudogene Approved Yq11.221 Yq11.221 RN5S520 RNA, 5S ribosomal 520 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106480771 ENSG00000252315 uc065css.1 NG_045647 HGNC:43420 +HGNC:43421 RNA5SP521 RNA, 5S ribosomal pseudogene 521 pseudogene pseudogene Approved Yq11.221 Yq11.221 RN5S521 RNA, 5S ribosomal 521 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479018 ENSG00000252012 uc065cst.1 NG_045777 HGNC:43421 +HGNC:43422 RNA5SP522 RNA, 5S ribosomal pseudogene 522 pseudogene pseudogene Approved Yq11.222 Yq11.222 RN5S522 RNA, 5S ribosomal 522 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106479019 ENSG00000251953 uc065ctd.1 NG_044243 HGNC:43422 +HGNC:43423 RNA5SP523 RNA, 5S ribosomal pseudogene 523 pseudogene pseudogene Approved Yq11.222 Yq11.222 RN5S523 RNA, 5S ribosomal 523 2012-01-30 2012-08-09 2012-08-09 2014-11-19 106480772 ENSG00000252667 uc065cte.1 NG_043951 HGNC:43423 +HGNC:53793 RNA5SP524 RNA, 5S ribosomal pseudogene 524 pseudogene pseudogene Approved Xq28 Xq28 2017-12-21 2017-12-21 111644143 ENSG00000201285 NG_056344 HGNC:53793 +HGNC:53794 RNA5SP525 RNA, 5S ribosomal pseudogene 525 pseudogene pseudogene Approved Xq28 Xq28 2017-12-21 2017-12-21 111644134 ENSG00000212595 NG_056345 HGNC:53794 +HGNC:53795 RNA5SP526 RNA, 5S ribosomal pseudogene 526 pseudogene pseudogene Approved 17q12 17q12 2017-12-21 2017-12-21 111644135 ENSG00000274663 NG_056346 HGNC:53795 +HGNC:53796 RNA5SP527 RNA, 5S ribosomal pseudogene 527 pseudogene pseudogene Approved 4q13.2 04q13.2 2017-12-21 2017-12-21 111644144 ENSG00000274759 NG_056347 HGNC:53796 +HGNC:53797 RNA5SP528 RNA, 5S ribosomal pseudogene 528 pseudogene pseudogene Approved 20q11.21 20q11.21 2017-12-21 2017-12-21 111644145 ENSG00000275305 NG_056348 HGNC:53797 +HGNC:53798 RNA5SP529 RNA, 5S ribosomal pseudogene 529 pseudogene pseudogene Approved 1q21.1 01q21.1 2017-12-21 2017-12-21 111644136 ENSG00000276442 NG_056349 HGNC:53798 +HGNC:53799 RNA5SP530 RNA, 5S ribosomal pseudogene 530 pseudogene pseudogene Approved 9p11.2 09p11.2 2017-12-21 2017-12-21 112436692 ENSG00000277049 NG_056807 HGNC:53799 +HGNC:53800 RNA5SP531 RNA, 5S ribosomal pseudogene 531 pseudogene pseudogene Approved 8q11.21 08q11.21 2017-12-21 2017-12-21 111644137 ENSG00000277418 NG_056350 HGNC:53800 +HGNC:53801 RNA5SP532 RNA, 5S ribosomal pseudogene 532 pseudogene pseudogene Approved 20q11.1 20q11.1 2017-12-21 2017-12-21 112441442 ENSG00000283433 NG_066025 HGNC:53801 +HGNC:53802 RNA5SP533 RNA, 5S ribosomal pseudogene 533 pseudogene pseudogene Approved 1q21.1 01q21.1 2017-12-21 2017-12-21 111644138 ENSG00000252830 NG_056351 HGNC:53802 +HGNC:53803 RNA5SP534 RNA, 5S ribosomal pseudogene 534 pseudogene pseudogene Approved 1q32.2 01q32.2 2017-12-21 2017-12-21 2017-12-21 2017-12-21 111644140 ENSG00000274059 NG_056352 HGNC:53803 +HGNC:53804 RNA5SP535 RNA, 5S ribosomal pseudogene 535 pseudogene pseudogene Approved 11q22.1 11q22.1 2017-12-21 2017-12-21 111644139 ENSG00000274097 NG_056353 HGNC:53804 +HGNC:53805 RNA5SP536 RNA, 5S ribosomal pseudogene 536 pseudogene pseudogene Approved 1q21.1 01q21.1 2017-12-21 2017-12-21 111644146 ENSG00000274408 NG_056354 HGNC:53805 +HGNC:44278 RNA18S1 RNA, 18S ribosomal 1 non-coding RNA RNA, ribosomal Approved 13p12 not on reference assembly 13p12 not on reference assembly 18S rRNA 1 18S ribosomal RNAs 1383 2012-08-07 2017-03-17 106632259 3689320 +HGNC:44279 RNA18S2 RNA, 18S ribosomal 2 non-coding RNA RNA, ribosomal Approved 14p12 not on reference assembly 14p12 not on reference assembly 18S rRNA 2 18S ribosomal RNAs 1383 2012-08-07 2017-03-17 106632258 3689320 +HGNC:44280 RNA18S3 RNA, 18S ribosomal 3 non-coding RNA RNA, ribosomal Approved 15p12 not on reference assembly 15p12 not on reference assembly 18S rRNA 3 18S ribosomal RNAs 1383 2012-08-07 2017-03-17 106631782 3689320 +HGNC:44281 RNA18S4 RNA, 18S ribosomal 4 non-coding RNA RNA, ribosomal Approved 21p12 not on reference assembly 21p12 not on reference assembly 18S rRNA 4 18S ribosomal RNAs 1383 2012-08-07 2018-04-18 110255165 3689320 +HGNC:37657 RNA18S5 RNA, 18S ribosomal 5 non-coding RNA RNA, ribosomal Approved 22p12 not on reference assembly 22p12 not on reference assembly 18S rRNA 5 RN18S1 18S ribosomal RNAs 1383 2009-12-16 2012-08-07 2012-08-07 2018-04-18 110255169 8972871 +HGNC:53515 RNA18SN1 RNA, 18S ribosomal N1 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 106631781 NR_145820 +HGNC:53519 RNA18SN2 RNA, 18S ribosomal N2 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 109864280 NR_146146 HGNC:53519 +HGNC:53523 RNA18SN3 RNA, 18S ribosomal N3 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 109910380 NR_146152 HGNC:53523 +HGNC:53528 RNA18SN4 RNA, 18S pre-ribosomal N4 non-coding RNA RNA, ribosomal Approved 22 unplaced 22 unplaced Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 2017-05-12 109864273 NR_146119 +HGNC:53531 RNA18SN5 RNA, 18S ribosomal N5 non-coding RNA RNA, ribosomal Approved unplaced unplaced Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 100008588 NR_003286 +HGNC:37658 RNA18SP2 RNA, 18S ribosomal pseudogene 2 pseudogene pseudogene Approved Yp11.2 Yp11.2 RN18S2P RNA, 18S ribosomal 2, pseudogene 2009-12-16 2012-08-07 2012-08-07 2013-05-20 359724 NG_002801 HGNC:37658 +HGNC:53534 RNA18SP3 RNA, 18S ribosomal pseudogene 3 pseudogene pseudogene Approved 22 unplaced 22 unplaced 2017-05-12 2017-05-31 109864277 NG_054871 +HGNC:53535 RNA18SP4 RNA, 18S ribosomal pseudogene 4 pseudogene pseudogene Approved 22 unplaced 22 unplaced 2017-05-12 2017-05-31 109864275 NG_054873 +HGNC:53558 RNA18SP5 RNA, 18S ribosomal pseudogene 5 pseudogene pseudogene Approved 21p11.2 21p11.2 2017-05-31 2017-05-31 109910383 NG_054875 HGNC:53558 +HGNC:44286 RNA28S1 RNA, 28S ribosomal 1 non-coding RNA RNA, ribosomal Approved 13p12 not on reference assembly 13p12 not on reference assembly 28S rRNA 1 28S ribosomal RNAs 1385 2012-08-07 2017-03-17 106632267 +HGNC:44287 RNA28S2 RNA, 28S ribosomal 2 non-coding RNA RNA, ribosomal Approved 14p12 not on reference assembly 14p12 not on reference assembly 28S rRNA 2 28S ribosomal RNAs 1385 2012-08-07 2017-03-17 106632266 +HGNC:44288 RNA28S3 RNA, 28S ribosomal 3 non-coding RNA RNA, ribosomal Approved 15p12 not on reference assembly 15p12 not on reference assembly 28S rRNA 3 28S ribosomal RNAs 1385 2012-08-07 2017-03-17 106632265 +HGNC:44289 RNA28S4 RNA, 28S ribosomal 4 non-coding RNA RNA, ribosomal Approved 21p12 not on reference assembly 21p12 not on reference assembly 28S rRNA 4 28S ribosomal RNAs 1385 2012-08-07 2018-04-18 110255164 +HGNC:37659 RNA28S5 RNA, 28S ribosomal 5 non-coding RNA RNA, ribosomal Approved 22p12 not on reference assembly 22p12 not on reference assembly 28S rRNA 5 RN28S1 28S ribosomal RNAs 1385 2009-12-16 2012-08-07 2012-08-07 2018-04-18 110255168 +HGNC:53516 RNA28SN1 RNA, 28S ribosomal N1 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 106632264 NR_145822 +HGNC:53520 RNA28SN2 RNA, 28S ribosomal N2 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 109864282 NR_146148 HGNC:53520 +HGNC:53524 RNA28SN3 RNA, 28S ribosomal N3 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 109910382 NR_146154 HGNC:53524 +HGNC:53527 RNA28SN4 RNA, 28S ribosomal N4 non-coding RNA RNA, ribosomal Approved 22 unplaced 22 unplaced Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 109864272 NR_146118 +HGNC:53532 RNA28SN5 RNA, 28S ribosomal N5 non-coding RNA RNA, ribosomal Approved unplaced unplaced Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 2017-05-12 100008589 NR_003287 +HGNC:44274 RNA45S1 RNA, 45S pre-ribosomal 1 non-coding RNA RNA, ribosomal Approved 13p12 not on reference assembly 13p12 not on reference assembly 45S pre-ribosomal RNAs 1382 2012-08-07 2017-09-08 106631780 +HGNC:44275 RNA45S2 RNA, 45S pre-ribosomal 2 non-coding RNA RNA, ribosomal Approved 14p12 not on reference assembly 14p12 not on reference assembly 45S pre-ribosomal RNAs 1382 2012-08-07 2017-03-17 106631779 +HGNC:44276 RNA45S3 RNA, 45S pre-ribosomal 3 non-coding RNA RNA, ribosomal Approved 15p12 not on reference assembly 15p12 not on reference assembly 45S pre-ribosomal RNAs 1382 2012-08-07 2017-03-17 106631778 +HGNC:44277 RNA45S4 RNA, 45S pre-ribosomal 4 non-coding RNA RNA, ribosomal Approved 21p12 not on reference assembly 21p12 not on reference assembly 45S pre-ribosomal RNAs 1382 2012-08-07 2018-04-18 110255163 +HGNC:44273 RNA45S5 RNA, 45S pre-ribosomal 5 non-coding RNA RNA, ribosomal Approved 22p12 not on reference assembly 22p12 not on reference assembly 45S pre-ribosomal RNAs 1382 2012-08-07 2012-08-07 2018-04-18 110255167 +HGNC:53514 RNA45SN1 RNA, 45S pre-ribosomal N1 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 106631777 NR_145819 +HGNC:53518 RNA45SN2 RNA, 45S pre-ribosomal N2 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 109864279 NR_146144 HGNC:53518 +HGNC:53522 RNA45SN3 RNA, 45S pre-ribosomal N3 non-coding RNA RNA, ribosomal Approved 21p11.2 21p11.2 Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 109910379 NR_146151 HGNC:53522 +HGNC:53526 RNA45SN4 RNA, 45S pre-ribosomal N4 non-coding RNA RNA, ribosomal Approved 22 unplaced 22 unplaced Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 109864271 NR_146117 +HGNC:53530 RNA45SN5 RNA, 45S pre-ribosomal N5 non-coding RNA RNA, ribosomal Approved unplaced unplaced Ribosomal 45S rRNA genes outside of clusters 1528 2017-05-12 2017-05-12 100861532 NR_046235 +HGNC:10044 RNASE1 ribonuclease A family member 1, pancreatic protein-coding gene gene with protein product Approved 14q11.2 14q11.2 RAC1 RNS1 ribonuclease, RNase A family, 1 (pancreatic) Ribonuclease A family 723 1990-02-24 2016-01-20 2016-01-20 6035 ENSG00000129538 OTTHUMG00000029603 uc001vyi.4 BC005324 NM_002933 CCDS9559 P07998 8588814 MGI:97919 RGD:3574 180440 470950 3.1.27.5 HGNC:10044 "ENST00000397967.5|NM_002933.5" +HGNC:10045 RNASE2 ribonuclease A family member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "EDN|RAF3" eosinophil-derived neurotoxin RNS2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) Ribonuclease A family 723 1990-02-24 2016-01-20 2016-01-20 6036 ENSG00000169385 OTTHUMG00000029607 uc001vyl.2 X55988 NM_002934 CCDS9561 P10153 "1577491|2734298" "MGI:108020|MGI:108021|MGI:1858237|MGI:1858598|MGI:1890463|MGI:1890464|MGI:1890465|MGI:3528616" RGD:1359432 131410 HGNC:10045 "ENST00000304625.3|NM_002934.3" +HGNC:55569 RNASE2CP ribonuclease A family member 2C, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 ECRP "ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) pseudogene|eosinophil cationic-related protein" 2021-04-21 2021-04-21 643332 ENSG00000136315 NR_033909 +HGNC:10046 RNASE3 ribonuclease A family member 3 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "ECP|RAF1" eosinophil cationic protein RNS3 ribonuclease, RNase A family, 3 Ribonuclease A family 723 1990-02-24 2016-01-20 2016-01-20 6037 ENSG00000169397 OTTHUMG00000029604 uc001vyj.4 X55990 NM_002935 CCDS9560 P12724 1577491 "MGI:108020|MGI:108021|MGI:1858237|MGI:1858598|MGI:1890463|MGI:1890464|MGI:1890465" RGD:621580 131398 3.1.27.- HGNC:10046 "ENST00000304639.4|NM_002935.3" +HGNC:10047 RNASE4 ribonuclease A family member 4 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 RAB1 ribonuclease, RNase A family, 4 Ribonuclease A family 723 1997-07-22 2016-01-20 2016-10-05 6038 ENSG00000258818 OTTHUMG00000029575 uc001vxy.6 U36775 NM_001282192 CCDS9555 P34096 7501448 MGI:1926217 RGD:61823 601030 HGNC:10047 "ENST00000555835.3|NM_002937.5" +HGNC:10048 RNASE6 ribonuclease A family member k6 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "RAD1|RNaseK6" RNase k6 RNS6 ribonuclease, RNase A family, k6 Ribonuclease A family 723 1997-01-08 2016-01-20 2016-10-05 6039 ENSG00000169413 OTTHUMG00000029585 uc001vye.4 U64998 NM_005615 CCDS9558 Q93091 "8836175|9647635" MGI:1925666 RGD:1303020 601981 HGNC:10048 "ENST00000304677.3|NM_005615.5" +HGNC:19278 RNASE7 ribonuclease A family member 7 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 RAE1 ribonuclease, RNase A family, 7 Ribonuclease A family 723 2003-02-14 2016-01-20 2016-10-05 84659 ENSG00000165799 OTTHUMG00000171358 uc001vzk.4 AJ131212 NM_032572 CCDS41914 Q9H1E1 "12244054|12527768" 612484 HGNC:19278 "ENST00000298690.5|NM_032572.4" +HGNC:19277 RNASE8 ribonuclease A family member 8 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 RAE2 ribonuclease, RNase A family, 8 Ribonuclease A family 723 2003-02-14 2016-01-20 2016-10-05 122665 ENSG00000173431 OTTHUMG00000029645 uc010tlm.3 AF473854 NM_138331 CCDS9567 Q8TDE3 11861908 RGD:9070017 612485 HGNC:19277 "ENST00000308227.2|NM_138331.2" +HGNC:20673 RNASE9 ribonuclease A family member 9 (inactive) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "h461|RAK1" ribonuclease, RNase A family, 9 (non-active) Ribonuclease A family 723 2004-11-15 2016-01-20 2019-08-20 390443 ENSG00000188655 OTTHUMG00000170989 uc058yuf.1 AY665804 NM_001001673 "CCDS55904|CCDS32036|CCDS53883" P60153 "15676279|12920233" MGI:3057273 RGD:1359501 614014 HGNC:20673 +HGNC:19275 RNASE10 ribonuclease A family member 10 (inactive) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "RNASE9|RAH1" ribonuclease, RNase A family, 10 (non-active) Ribonuclease A family 723 2004-11-15 2016-01-20 2019-08-21 338879 ENSG00000182545 OTTHUMG00000170986 uc010tlj.3 NM_001012975 CCDS32035 Q5GAN6 "12920233|15676279" MGI:1922269 RGD:1310415 HGNC:19275 +HGNC:19269 RNASE11 ribonuclease A family member 11 (inactive) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 RAJ1 C14orf6 "chromosome 14 open reading frame 6|ribonuclease, RNase A family, 11 (non-active)" Ribonuclease A family 723 2002-11-27 2004-11-18 2016-01-20 2018-02-07 122651 ENSG00000173464 OTTHUMG00000170990 uc058yui.1 BC025410 NM_145250 CCDS9553 Q8TAA1 15676279 MGI:3528583 RGD:1359723 HGNC:19269 +HGNC:27381 RNASE11-AS1 RNASE11 and RNASE12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Antisense RNAs 1987 2022-01-31 2022-01-31 254028 ENSG00000258573 NR_122043 +HGNC:24211 RNASE12 ribonuclease A family member 12 (inactive) protein-coding gene gene with protein product Approved 14q11.2 14q11.2 RAI1 ribonuclease, RNase A family, 12 (non-active) Ribonuclease A family 723 2004-12-03 2016-01-20 2018-02-07 493901 ENSG00000258436 OTTHUMG00000170991 uc001vxt.4 NM_001024822 CCDS32037 Q5GAN4 15676279 MGI:3528588 RGD:1307829 HGNC:24211 +HGNC:25285 RNASE13 ribonuclease A family member 13 (inactive) protein-coding gene gene with protein product Approved 14q11.1 14q11.1 RAL1 ribonuclease, RNase A family, 13 (non-active) Ribonuclease A family 723 2004-12-03 2016-01-20 2018-02-07 440163 ENSG00000206150 OTTHUMG00000171110 uc001vzj.3 AY665808 NM_001012264 CCDS32039 Q5GAN3 15676279 MGI:3528592 RGD:1359386 HGNC:25285 "ENST00000382951.4|NM_001012264.4" +HGNC:18466 RNASEH1 ribonuclease H1 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 RNase H1 2002-06-05 2021-05-26 246243 ENSG00000171865 OTTHUMG00000090279 uc002qxt.5 AF039652 NM_001286834 CCDS1647 O60930 "12036296|17964265" MGI:1335073 RGD:1309012 LRG_1090|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1090.xml 604123 435761 3.1.26.- HGNC:18466 "ENST00000315212.4|NM_002936.6" HGNC:18466 +HGNC:49289 RNASEH1-DT RNASEH1 divergent transcript non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 LOC100506054 RNASEH1-AS1 RNASEH1 antisense RNA 1 Divergent transcripts 1990 2013-10-15 2021-07-05 2021-07-05 2021-07-05 100506054 ENSG00000234171 OTTHUMG00000151419 NR_038429 27797375 RNASEH1-AS1 HGNC:49289 +HGNC:10049 RNASEH1P1 ribonuclease H1 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 RNH1 RNASEH1 ribonuclease H1 1998-07-15 2002-06-07 2002-06-05 2017-10-30 284203 ENSG00000265790 OTTHUMG00000178915 AF048994 NG_004111 "9799596|12036296" PGOHUM00000294003 HGNC:10049 +HGNC:18715 RNASEH1P2 ribonuclease H1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2004-06-08 2017-10-30 390766 ENSG00000231458 OTTHUMG00000059176 NG_004110 12036296 PGOHUM00000294282 HGNC:18715 +HGNC:18716 RNASEH1P3 ribonuclease H1 pseudogene 3 pseudogene pseudogene Approved 1q32.2 01q32.2 2004-06-08 2004-06-08 199827 NG_001567 12036296 HGNC:18716 +HGNC:18518 RNASEH2A ribonuclease H2 subunit A protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "RNASEHI|RNHIA|RNHL|AGS4" "ribonuclease H2, large subunit|Aicardi-Goutieres syndrome 4|ribonuclease H2, subunit A" 2002-06-05 2015-12-01 2021-05-26 10535 ENSG00000104889 OTTHUMG00000180481 uc002mvg.2 Z97029 NM_006397 CCDS12282 O75792 "9789007|16845400" MGI:1916974 RGD:1307248 LRG_278|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_278.xml 606034 118329 3.1.26.- HGNC:18518 "ENST00000221486.6|NM_006397.3" HGNC:18518 +HGNC:25671 RNASEH2B ribonuclease H2 subunit B protein-coding gene gene with protein product Approved 13q14.3 13q14.3 FLJ11712 "DLEU8|AGS2" "deleted in lymphocytic leukemia 8|Aicardi-Goutieres syndrome 2|ribonuclease H2, subunit B" 2006-04-10 2006-08-17 2015-12-01 2021-05-26 79621 ENSG00000136104 OTTHUMG00000016937 uc001vfa.4 AK021774 NM_024570 "CCDS9425|CCDS45047" Q5TBB1 16845400 MGI:1914403 RGD:1359710 LRG_279|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_279.xml 610326 118335 HGNC:25671 "ENST00000336617.8|NM_024570.4" HGNC:25671 +HGNC:39967 RNASEH2B-AS1 RNASEH2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 RNASEH2B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-18 2012-08-15 2021-07-12 100874255 ENSG00000233672 OTTHUMG00000016938 uc058xct.1 NR_046552 RNASEH2B-AS1 HGNC:39967 +HGNC:24116 RNASEH2C ribonuclease H2 subunit C protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "AYP1|AGS3" Aicardi-Goutieres syndrome 3 ribonuclease H2, subunit C 2006-08-17 2015-12-01 2021-05-26 84153 ENSG00000172922 OTTHUMG00000166601 uc001ofn.4 AF312034 NM_032193 CCDS8111 Q8TDP1 "8244390|16845400" MGI:1915459 RGD:2319141 LRG_280|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_280.xml 610330 118340 HGNC:24116 "ENST00000308418.10|NM_032193.4" HGNC:24116 +HGNC:24117 RNASEH2CP1 ribonuclease H2 subunit C pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 AYP1p1 ribonuclease H2, subunit C pseudogene 1 2009-12-17 2015-12-01 2016-10-05 386608 ENSG00000237659 OTTHUMG00000036081 Z48511 NG_011584 "7633446|8244390" PGOHUM00000233889 HGNC:24117 +HGNC:33911 RNASEK ribonuclease K protein-coding gene gene with protein product Approved 17p13.1 17p13.1 MGC71993 ribonuclease, RNase K 2007-12-06 2016-01-20 2016-04-25 440400 ENSG00000219200 OTTHUMG00000170145 uc060agq.1 AK289930 NM_001004333 CCDS45594 Q6P5S7 "17881363|26212330" MGI:106369 RGD:1305687 617098 HGNC:33911 "ENST00000593646.6|NM_001004333.5" +HGNC:44419 RNASEK-C17orf49 RNASEK-C17orf49 readthrough other readthrough Approved 17p13.1 17p13.1 RNASEK-C17orf49 readthrough (non-protein coding) 2012-10-08 2013-05-09 2013-06-20 100529209 ENSG00000161939 OTTHUMG00000170146 uc060agz.1 NR_037717 HGNC:44419 +HGNC:10050 RNASEL ribonuclease L protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "RNS4|PRCA1" "prostate cancer 1|ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)" "Ankyrin repeat domain containing|Endoribonucleases" "403|1687" 1993-06-09 2016-01-25 2016-10-05 6041 ENSG00000135828 OTTHUMG00000035213 uc009wxz.3 L10381 NM_021133 CCDS1347 Q05823 7514564 MGI:1098272 RGD:727933 180435 118344 3.1.26.- HGNC:10050 "ENST00000367559.7|NM_021133.4" HGNC:10050 +HGNC:21686 RNASET2 ribonuclease T2 protein-coding gene gene with protein product Approved 6q27 06q27 "RNASE6PL|FLJ10907|bA514O12.3" 2003-11-26 2021-05-26 8635 ENSG00000026297 OTTHUMG00000016009 uc063svw.1 AJ419866 NM_003730 CCDS5295 O00584 9192857 "MGI:1915445|MGI:3702087" RGD:1309918 612944 201560 HGNC:21686 "ENST00000508775.6|NM_003730.6" HGNC:21686 +HGNC:18314 RND1 Rho family GTPase 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "Rho6|ARHS|RHOS" ras homolog gene family, member S Rho family GTPases 390 2004-01-29 2016-11-10 27289 ENSG00000172602 OTTHUMG00000170400 uc001rsn.4 Y07923 NM_014470 CCDS8771 Q92730 9531558 MGI:2444878 RGD:1306338 609038 HGNC:18314 "ENST00000309739.6|NM_014470.4" +HGNC:18315 RND2 Rho family GTPase 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "Rho7|RhoN" ARHN ras homolog gene family, member N Rho family GTPases 390 2002-09-13 2005-01-24 2005-01-24 2014-11-18 8153 ENSG00000108830 OTTHUMG00000180817 uc002icn.4 X95456 NM_005440 CCDS11452 P52198 MGI:1338755 RGD:1306172 601555 HGNC:18315 "ENST00000587250.4|NM_005440.5" +HGNC:671 RND3 Rho family GTPase 3 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 "RhoE|Rho8" ARHE ras homolog gene family, member E Rho family GTPases 390 1997-04-16 2005-01-27 2005-01-24 2020-09-17 390 ENSG00000115963 OTTHUMG00000131859 uc002txg.4 NM_005168 CCDS2190 P61587 "8649376|26756630" MGI:1921444 RGD:1359690 602924 HGNC:671 "ENST00000263895.9|NM_005168.5" +HGNC:10061 RNF2 ring finger protein 2 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "BAP-1|BAP1|DING|HIPI3|RING1B|RING2" Ring finger proteins 58 1997-06-09 2014-11-19 6045 ENSG00000121481 OTTHUMG00000035391 uc001grc.2 "BC012583|Y10571" NM_007212 CCDS1365 Q99496 11513855 MGI:1101759 RGD:1305491 608985 HGNC:10061 "ENST00000367510.8|NM_007212.4" +HGNC:33987 RNF2P1 ring finger protein 2 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 RNF2P ring finger protein 2 pseudogene 2008-02-01 2010-03-05 2010-03-05 2014-11-19 100132467 ENSG00000231381 OTTHUMG00000019528 NG_008708 PGOHUM00000235958 HGNC:33987 +HGNC:10067 RNF4 ring finger protein 4 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "RES4-26|SNURF|SLX5" Ring finger proteins 58 1997-07-01 2016-10-25 6047 ENSG00000063978 OTTHUMG00000160516 uc003gfb.4 U95140 NM_002938 "CCDS54713|CCDS47001" P78317 9479498 MGI:1201691 RGD:3583 602850 HGNC:10067 "ENST00000314289.13|NM_002938.5" +HGNC:10068 RNF5 ring finger protein 5 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "NG2|G16|RING5|RMA1" ring finger protein 5, E3 ubiquitin protein ligase "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 1997-10-16 2016-04-05 2016-11-10 6048 ENSG00000204308 OTTHUMG00000031093 uc011ivg.3 U89336 NM_006913 CCDS4745 Q99942 9533025 MGI:1860076 RGD:1588458 602677 HGNC:10068 "ENST00000375094.4|NM_006913.4" +HGNC:31053 RNF5P1 ring finger protein 5 pseudogene 1 pseudogene pseudogene Approved 8p11.22 08p11.22 ring finger protein 5, E3 ubiquitin protein ligase pseudogene 1 2005-03-31 2016-04-05 2017-10-30 286140 ENSG00000253570 OTTHUMG00000163988 NR_003129 PGOHUM00000303166 HGNC:31053 +HGNC:10069 RNF6 ring finger protein 6 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 DKFZp686P0776 RING-H2 protein RNF-6 ring finger protein (C3H2C3 type) 6 Ring finger proteins 58 1998-08-26 2016-04-05 2016-10-05 6049 ENSG00000127870 OTTHUMG00000016614 uc001uqq.4 AJ010346 NM_005977 CCDS9316 Q9Y252 10331950 MGI:1921382 RGD:1306092 604242 HGNC:10069 "ENST00000381588.9|NM_005977.4" HGNC:10069 +HGNC:39922 RNF6P1 ring finger protein 6 pseudogene 1 pseudogene pseudogene Approved 21q22.2 21q22.2 ring finger protein (C3H2C3 type) 6 pseudogene 1 2011-04-12 2016-04-05 2016-04-05 100420924 ENSG00000227406 OTTHUMG00000102163 NG_025045 PGOHUM00000239086 HGNC:39922 +HGNC:10070 RNF7 ring finger protein 7 protein-coding gene gene with protein product Approved 3q23 03q23 "SAG|ROC2|CKBBP1|RBX2" "sensitive to apoptosis zinc RING finger protein SAG|regulator of cullins 2|RING-box protein 2" Ring finger proteins 58 1999-05-28 2021-12-02 9616 ENSG00000114125 OTTHUMG00000141305 uc003eud.4 AF092878 NM_014245 "CCDS43158|CCDS56283|CCDS3118" Q9UBF6 "10082581|10230407" MGI:1337096 RGD:1311048 603863 HGNC:10070 "ENST00000273480.4|NM_014245.5" +HGNC:43425 RNF7P1 ring finger protein 7 pseudogene 1 pseudogene pseudogene Approved 3p14.3 03p14.3 2011-10-10 2011-10-10 100506872 ENSG00000239831 OTTHUMG00000158603 NG_030103 PGOHUM00000237633 HGNC:43425 +HGNC:10071 RNF8 ring finger protein 8 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 KIAA0646 Ring finger proteins 58 1999-09-29 2016-03-11 2017-12-06 9025 ENSG00000112130 OTTHUMG00000014620 uc003onq.4 AB012770 NM_003958 "CCDS4833|CCDS4834" O76064 "9734811|9852682" MGI:1929069 RGD:1308035 611685 HGNC:10071 "ENST00000373479.9|NM_003958.4" +HGNC:10055 RNF10 ring finger protein 10 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA0262|RIE2" Ring finger proteins 58 2000-01-07 2016-10-05 9921 ENSG00000022840 OTTHUMG00000168999 uc001typ.5 AB027196 NM_001330474 "CCDS81746|CCDS9201" Q8N5U6 MGI:1859162 RGD:1309282 615998 HGNC:10055 "ENST00000325954.9|NM_014868.5" +HGNC:44472 RNF10P1 ring finger protein 10 pseudogene 1 pseudogene pseudogene Approved 3p26.1 03p26.1 2012-11-01 2012-11-01 100419599 ENSG00000230182 OTTHUMG00000155237 NG_025552 PGOHUM00000237524 HGNC:44472 +HGNC:10056 RNF11 ring finger protein 11 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "CGI-123|Sid1669p|MGC51169" Ring finger proteins 58 2000-01-07 2016-10-05 26994 ENSG00000123091 OTTHUMG00000008190 uc001csi.5 AB024703 NM_014372 CCDS556 Q9Y3C5 "10673045|10810093" MGI:1352759 RGD:1591050 612598 HGNC:10056 "ENST00000242719.4|NM_014372.5" +HGNC:33988 RNF11P1 ring finger protein 11 pseudogene 1 pseudogene pseudogene Approved 2q32.2 02q32.2 2008-02-01 2019-10-16 100131695 ENSG00000213110 NG_008707 HGNC:33988 +HGNC:16535 RNF11P2 ring finger protein 11 pseudogene 2 pseudogene pseudogene Approved 20p12.1 20p12.1 bA280O9.1 RNF11B ring finger protein 11B, pseudogene 2001-09-17 2008-02-01 2008-02-01 2016-07-22 170543 ENSG00000227563 OTTHUMG00000031916 AL121582 NG_054905 PGOHUM00000296903 HGNC:16535 +HGNC:10057 RNF13 ring finger protein 13 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 RZF Ring finger proteins 58 1999-10-19 2015-08-25 11342 ENSG00000082996 OTTHUMG00000150338 uc003exp.5 AF037204 NM_183384 "CCDS87154|CCDS3146" O43567 MGI:1346341 RGD:1594062 609247 HGNC:10057 "ENST00000392894.8|NM_183381.3" HGNC:10057 +HGNC:10058 RNF14 ring finger protein 14 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "ARA54|HFB30|TRIAD2" "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 1999-12-14 2016-10-05 9604 ENSG00000013561 OTTHUMG00000129660 uc003llz.4 AF060544 NM_004290 "CCDS4271|CCDS4270" Q9UBS8 "10085091|10320776" MGI:1929668 RGD:1589576 605675 HGNC:10058 "ENST00000394520.7|NM_004290.5" +HGNC:54669 RNF14P1 RNF14 pseudogene 1 pseudogene pseudogene Approved 2q22.1 02q22.1 2019-11-21 2019-11-21 100129375 ENSG00000232915 NG_021525 +HGNC:54670 RNF14P2 RNF14 pseudogene 2 pseudogene pseudogene Approved 4q25 04q25 2019-11-21 2019-11-21 116435284 ENSG00000250594 NG_068490 +HGNC:54671 RNF14P3 RNF14 pseudogene 3 pseudogene pseudogene Approved 7q22.1 07q22.1 2019-11-21 2019-11-21 100419643 ENSG00000238109 NG_026496 +HGNC:54672 RNF14P4 RNF14 pseudogene 4 pseudogene pseudogene Approved 7q33 07q33 2019-11-21 2019-11-21 100419645 ENSG00000223500 NG_026626 +HGNC:10060 RNF17 ring finger protein 17 protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "Mmip-2|SPATA23|FLJ11045" spermatogenesis associated 23 TDRD4 tudor domain containing 4 "Ring finger proteins|Tudor domain containing" "58|780" 2000-06-16 2016-10-05 56163 ENSG00000132972 OTTHUMG00000016589 uc001upr.4 "AF285602|AK001907" NM_031994 CCDS9308 Q9BXT8 11279525 MGI:1353419 RGD:1310486 605793 HGNC:10060 "ENST00000255324.10|NM_031277.3" +HGNC:13432 RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "dorfin|DKFZp566B1346" RNF19 "ring finger protein 19|ring finger protein 19A|ring finger protein 19A, E3 ubiquitin protein ligase" "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2003-02-28 2007-08-20 2013-10-03 2016-11-01 25897 ENSG00000034677 OTTHUMG00000164707 uc064pac.1 AB029316 NM_015435 CCDS6286 Q9NV58 "11237715|10976766" MGI:1353623 RGD:1307807 607119 HGNC:13432 "ENST00000341084.7|NM_183419.4" +HGNC:26886 RNF19B ring finger protein 19B protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "FLJ90005|NKLAM" natural killer lytic-associated molecule IBRDC3 IBR domain containing 3 "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2004-03-02 2007-08-20 2007-08-20 2022-01-11 127544 ENSG00000116514 OTTHUMG00000004013 uc010oho.3 AK074486 NM_153341 "CCDS44107|CCDS372|CCDS72754" Q6ZMZ0 "10438909|33192571" MGI:1922484 RGD:1305470 610872 HGNC:26886 "ENST00000235150.5|NM_001300826.2" +HGNC:38484 RNF19BPX ring finger protein 19B pseudogene X-linked pseudogene pseudogene Approved Xq21.31 Xq21.31 RNF19BX 2010-05-11 2018-04-26 2020-05-22 100419788 ENSG00000227434 OTTHUMG00000040023 NG_022619 PGOHUM00000241439 HGNC:38484 +HGNC:38398 RNF19BPY ring finger protein 19B pseudogene Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-05-11 2018-04-26 2018-04-26 100419722 ENSG00000225653 OTTHUMG00000036180 NG_021906 PGOHUM00000233666 HGNC:38398 +HGNC:10062 RNF20 ring finger protein 20 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "FLJ20382|FLJ11189|KAIA2779|BRE1A|hBRE1|BRE1" BRE1 E3 ubiquitin ligase homolog (S. cerevisiae) Ring finger proteins 58 2000-05-23 2008-12-12 2015-11-27 2017-12-06 56254 ENSG00000155827 OTTHUMG00000020385 uc004bbn.5 AF265230 NM_019592 CCDS35084 Q5VTR2 "16337599|12876294|18832071|19037095" MGI:1925927 RGD:1311936 607699 470986 HGNC:10062 "ENST00000389120.8|NM_019592.7" +HGNC:13779 RNF24 ring finger protein 24 protein-coding gene gene with protein product Approved 20p13 20p13 G1L Ring finger proteins 58 2000-10-25 2015-08-25 11237 ENSG00000101236 OTTHUMG00000031770 uc002wkh.4 AF151081 NM_001134337 "CCDS13074|CCDS46577" Q9Y225 MGI:1261771 RGD:1309384 612489 HGNC:13779 "ENST00000358395.11|NM_001134337.3" +HGNC:14662 RNF25 ring finger protein 25 protein-coding gene gene with protein product Approved 2q35 02q35 "AO7|FLJ13906" Ring finger proteins 58 2001-02-21 2014-11-19 64320 ENSG00000163481 OTTHUMG00000133077 uc002vit.4 NM_022453 CCDS2420 Q96BH1 12748188 MGI:1890215 RGD:1311557 616014 HGNC:14662 "ENST00000295704.7|NM_022453.3" +HGNC:14646 RNF26 ring finger protein 26 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC2642 ring finger protein with leucine zipper Ring finger proteins 58 2001-02-21 2019-08-21 79102 ENSG00000173456 OTTHUMG00000166171 uc001pwh.4 AB055622 NM_032015 CCDS8419 Q9BY78 11352657 MGI:2388131 RGD:1305953 606130 HGNC:14646 "ENST00000311413.5|NM_032015.5" +HGNC:16031 RNF31 ring finger protein 31 protein-coding gene gene with protein product Approved 14q12 14q12 "ZIBRA|FLJ10111|FLJ23501|HOIP|Paul" HOIL-1-interacting protein "Ring finger proteins|Zinc fingers RANBP2-type |Linear ubiquitin chain assembly complex |RBR E3 ubiquitin ligases" "58|89|1390|1391" 2003-09-29 2021-04-13 55072 ENSG00000092098 OTTHUMG00000028798 uc001wmn.2 AK000973 NM_017999 "CCDS41931|CCDS81792" Q96EP0 10422847 MGI:1934704 RGD:1305513 LRG_1315|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1315.xml 612487 432144 HGNC:16031 "ENST00000324103.11|NM_017999.5" HGNC:16031 +HGNC:17118 RNF32 ring finger protein 32 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "FKSG33|HSD15|LMBR2" Ring finger proteins 58 2001-12-10 2016-10-05 140545 ENSG00000105982 OTTHUMG00000151440 uc010lqm.4 NM_030936 "CCDS78293|CCDS78292|CCDS5944" Q9H0A6 11890671 MGI:1861747 RGD:1308287 610241 HGNC:17118 "ENST00000317955.10|NM_030936.4" +HGNC:40798 RNF32-AS1 RNF32 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 Antisense RNAs 1987 2020-03-19 2020-03-19 101927858 ENSG00000224903 OTTHUMG00000151509 +HGNC:48971 RNF32-DT RNF32 divergent transcript non-coding RNA RNA, long non-coding Approved 7q36.3 07q36.3 MY040 "C7orf13|LINC01006" "chromosome 7 open reading frame 13|long intergenic non-protein coding RNA 1006" Divergent transcripts 1990 2013-07-23 2021-10-11 2021-10-11 2021-10-11 100506380 ENSG00000182648 OTTHUMG00000157237 NR_026865 Q8NI28 610242 LINC01006 HGNC:48971 +HGNC:17297 RNF34 ring finger protein 34 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "RIFF|FLJ21786|RIF" ring finger protein 34, E3 ubiquitin protein ligase Ring finger proteins 58 2001-12-03 2016-03-11 2019-08-21 80196 ENSG00000170633 OTTHUMG00000171524 uc001uak.3 "AF306709|AB084914" NM_194271 "CCDS9221|CCDS31915|CCDS73538" Q969K3 12118383 MGI:2153340 RGD:628636 608299 HGNC:17297 "ENST00000361234.10|NM_025126.4" +HGNC:18052 RNF38 ring finger protein 38 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 Ring finger proteins 58 2002-01-23 2020-04-20 152006 ENSG00000137075 OTTHUMG00000019905 uc003zzm.5 NM_022781 "CCDS6603|CCDS6604" Q9H0F5 MGI:1920719 RGD:621856 612488 HGNC:18052 "ENST00000259605.11|NM_022781.5" +HGNC:18064 RNF39 ring finger protein 39 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "HZFw1|LIRF|FAP216" Ring finger proteins 58 2003-04-25 2020-01-27 80352 ENSG00000204618 OTTHUMG00000031288 uc003npe.4 AF238315 NM_170769 "CCDS4673|CCDS4674" Q9H2S5 "11130983|11716498" MGI:2156378 RGD:628854 607524 HGNC:18064 "ENST00000244360.8|NM_025236.4" +HGNC:16867 RNF40 ring finger protein 40 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "KIAA0661|RBP95|BRE1B|STARING" BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae) Ring finger proteins 58 2002-02-15 2016-03-22 2017-12-06 9810 ENSG00000103549 OTTHUMG00000132394 uc002dzq.4 AB014561 NM_014771 "CCDS10691|CCDS55994" O75150 "9734811|10944455|12121982" MGI:2142048 RGD:628638 607700 HGNC:16867 "ENST00000324685.11|NM_014771.4" +HGNC:18401 RNF41 ring finger protein 41 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "SBBI03|NRDP1" ring finger protein 41, E3 ubiquitin protein ligase Ring finger proteins 58 2003-05-21 2016-03-11 2016-10-05 10193 ENSG00000181852 OTTHUMG00000170328 uc001skf.3 AF077599 NM_005785 "CCDS8909|CCDS8910" Q9H4P4 MGI:1914838 RGD:1309557 HGNC:18401 "ENST00000345093.9|NM_005785.4" +HGNC:18505 RNF43 ring finger protein 43 protein-coding gene gene with protein product Approved 17q22 17q22 "FLJ20315|DKFZp781H0392|URCC" Ring finger proteins 58 2002-04-18 2022-01-21 54894 ENSG00000108375 OTTHUMG00000179077 uc002iwh.6 NM_017763 "CCDS82172|CCDS11607" Q68DV7 "15492824|22575959" MGI:2442609 RGD:1305204 LRG_1026|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1026.xml RNF43 612482 456689 HGNC:18505 "ENST00000407977.7|NM_017763.6" HGNC:18505 +HGNC:19180 RNF44 ring finger protein 44 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 KIAA1100 Ring finger proteins 58 2002-09-02 2016-10-05 22838 ENSG00000146083 OTTHUMG00000130664 uc003mek.2 AB029023 NM_014901 CCDS4404 Q7L0R7 10470851 MGI:2145310 RGD:1307212 619283 470988 HGNC:19180 "ENST00000274811.9|NM_014901.5" +HGNC:12859 RNF103 ring finger protein 103 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "hkf-1|KF1" ZFP103 zinc finger protein 103 homolog (mouse) Ring finger proteins 58 1998-10-30 2003-05-16 2003-05-14 2014-11-19 7844 ENSG00000239305 OTTHUMG00000153197 uc002srn.4 D76444 NM_005667 CCDS33237 O00237 9070305 MGI:109483 RGD:620586 602507 HGNC:12859 "ENST00000237455.5|NM_005667.4" +HGNC:38847 RNF103-CHMP3 RNF103-CHMP3 readthrough other readthrough Approved 2p11.2 02p11.2 RNF103-VPS24 RNF103-VPS24 readthrough 2011-02-21 2011-10-20 2011-10-20 2014-11-19 100526767 ENSG00000249884 OTTHUMG00000160822 uc010ytl.3 NM_001198954.1 CCDS56128 MGI:1913950 HGNC:38847 +HGNC:17384 RNF111 ring finger protein 111 protein-coding gene gene with protein product Approved 15q22.1-q22.2 15q22.1-q22.2 "ARK|Arkadia|FLJ38008|DKFZP761D081" Ring finger proteins 58 2003-05-14 2018-02-13 54778 ENSG00000157450 OTTHUMG00000132716 uc002afs.5 AL157474 NM_017610 "CCDS81888|CCDS58365|CCDS58366|CCDS10169" Q6ZNA4 11298452 MGI:1934919 RGD:1310097 605840 HGNC:17384 "ENST00000348370.9|NM_017610.8" +HGNC:12968 RNF112 ring finger protein 112 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 BFP neurolastin ZNF179 zinc finger protein 179 Ring finger proteins 58 1995-10-17 2008-06-13 2008-06-13 2015-11-27 7732 ENSG00000128482 OTTHUMG00000059601 uc010vyw.3 AF054587 NM_007148 CCDS58529 Q9ULX5 "8660987|9806830|26212327" MGI:106611 RGD:3986 601237 HGNC:12968 "ENST00000461366.2|NM_007148.5" +HGNC:12974 RNF113A ring finger protein 113A protein-coding gene gene with protein product Approved Xq24 Xq24 "RNF113|Cwc24" ZNF183 zinc finger protein 183 (RING finger, C3HC4 type) "Ring finger proteins|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "58|1498|1508|1510|1516" 1996-10-18 2005-03-22 2005-03-22 2020-04-02 7737 ENSG00000125352 OTTHUMG00000022283 uc004esb.4 X98253 NM_006978 CCDS14589 O15541 9224902 MGI:1917192 RGD:1359693 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RNF113A 300951 430986 2.3.2.27 HGNC:12974 "ENST00000371442.4|NM_006978.3" HGNC:12974 +HGNC:17267 RNF113B ring finger protein 113B protein-coding gene gene with protein product Approved 13q32.2 13q32.2 RNF161 ZNF183L1 zinc finger protein 183-like 1 Ring finger proteins 58 2001-12-07 2005-03-22 2005-03-22 2015-09-09 140432 ENSG00000139797 OTTHUMG00000017245 uc001vnk.4 AF539427 NM_178861 CCDS9486 Q8IZP6 "MGI:1913631|MGI:1917192" HGNC:17267 "ENST00000267291.7|NM_178861.5" +HGNC:13094 RNF114 ring finger protein 114 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 PSORS12 ZNF313 zinc finger protein 313 Ring finger proteins 58 2000-07-31 2008-06-16 2008-06-16 2016-10-05 55905 ENSG00000124226 OTTHUMG00000032709 uc002xux.4 AF265215 NM_018683 CCDS33482 Q9Y508 18364390 MGI:1933159 RGD:1303139 612451 HGNC:13094 "ENST00000244061.6|NM_018683.4" +HGNC:18154 RNF115 ring finger protein 115 protein-coding gene gene with protein product Approved 1q21.1 01q21.1 CL469780 ZNF364 zinc finger protein 364 Ring finger proteins 58 2002-02-15 2008-06-16 2008-06-16 2016-10-05 27246 ENSG00000265491 OTTHUMG00000013758 uc031utf.2 AF419857 NM_014455 CCDS72863 Q9Y4L5 MGI:1915095 RGD:1305315 619535 HGNC:18154 "ENST00000582693.5|NM_014455.4" +HGNC:21070 RNF121 ring finger protein 121 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FLJ11099 Ring finger proteins 58 2003-05-14 2016-10-05 55298 ENSG00000137522 OTTHUMG00000157023 uc001ora.4 AK001961 NM_018320 "CCDS8203|CCDS73343" Q9H920 MGI:1922462 RGD:1307857 HGNC:21070 "ENST00000361756.8|NM_018320.5" +HGNC:21147 RNF122 ring finger protein 122 protein-coding gene gene with protein product Approved 8p12 08p12 FLJ12526 Ring finger proteins 58 2003-05-21 2014-11-19 79845 ENSG00000133874 OTTHUMG00000163960 uc003xjo.3 AK022588 NM_024787 CCDS6091 Q9H9V4 MGI:1916117 RGD:1561238 HGNC:21147 "ENST00000256257.2|NM_024787.3" +HGNC:21148 RNF123 ring finger protein 123 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ12565|KPC1" Kip1 ubiquitination-promoting complex subunit 1 "Ring finger proteins|Armadillo like helical domain containing" "58|1492" 2003-05-21 2016-10-05 63891 ENSG00000164068 OTTHUMG00000156891 uc003cxh.5 AK022627 NM_022064 CCDS33758 Q5XPI4 15531880 MGI:2148796 RGD:2301394 614472 HGNC:21148 "ENST00000327697.11|NM_022064.5" +HGNC:21150 RNF125 ring finger protein 125 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 FLJ20456 ring finger protein 125, E3 ubiquitin protein ligase Ring finger proteins 58 2003-05-21 2016-06-07 2016-06-07 54941 ENSG00000101695 OTTHUMG00000132266 uc002kxf.2 AK000463 NM_017831 CCDS11902 Q96EQ8 MGI:1914914 RGD:1306757 610432 470982 HGNC:21150 "ENST00000217740.4|NM_017831.4" HGNC:21150 +HGNC:21151 RNF126 ring finger protein 126 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ20552 Ring finger proteins 58 2003-05-21 2019-04-16 55658 ENSG00000070423 OTTHUMG00000180592 uc010drs.5 BC025374 NM_017876 CCDS12039 Q9BV68 MGI:1917544 RGD:1306011 615177 HGNC:21151 "ENST00000292363.10|NM_194460.3" +HGNC:30340 RNF126P1 ring finger protein 126 pseudogene 1 pseudogene pseudogene Approved 17q22 17q22 2004-04-22 2018-02-07 376412 ENSG00000261192 OTTHUMG00000176069 BC033555 NR_002818 12477932 PGOHUM00000294485 HGNC:30340 +HGNC:21153 RNF128 ring finger protein 128 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "FLJ23516|GRAIL" ring finger protein 128, E3 ubiquitin protein ligase Ring finger proteins 58 2003-05-21 2019-02-28 2020-04-02 79589 ENSG00000133135 OTTHUMG00000022151 uc004eml.4 AK027169 NM_024539 "CCDS14520|CCDS14521" Q8TEB7 MGI:1914139 RGD:1566282 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RNF128 300439 HGNC:21153 "ENST00000255499.3|NM_194463.2" +HGNC:18280 RNF130 ring finger protein 130 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "GP|G1RZFP|GOLIATH" "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2003-05-21 2015-08-25 55819 ENSG00000113269 OTTHUMG00000130909 uc003mll.2 AF155650 NM_018434 "CCDS64340|CCDS4451" Q86XS8 10806348 MGI:1891717 RGD:1562041 619163 HGNC:18280 "ENST00000521389.6|NM_018434.6" +HGNC:21154 RNF133 ring finger protein 133 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 Ring finger proteins 58 2003-05-21 2016-10-05 168433 ENSG00000188050 OTTHUMG00000157092 uc003vkj.2 AF447589 NM_139175 CCDS5784 Q8WVZ7 MGI:2677436 RGD:1596695 HGNC:21154 "ENST00000340112.3|NM_139175.2" +HGNC:21158 RNF135 ring finger protein 135 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 MGC13061 riplet Ring finger proteins 58 2003-05-21 2020-04-02 84282 ENSG00000181481 OTTHUMG00000132867 uc002hfz.4 AJ496729 NM_032322 "CCDS54104|CCDS11262|CCDS11263" Q8IUD6 "11468690|19017631" MGI:1919206 RGD:1305252 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RNF135 611358 140074 HGNC:21158 "ENST00000328381.10|NM_032322.4" HGNC:21158 +HGNC:17765 RNF138 ring finger protein 138 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "STRIN|NARF" nemo-like kinase associated ring finger protein ring finger protein 138, E3 ubiquitin protein ligase Ring finger proteins 58 2003-05-21 2016-04-05 2016-04-05 51444 ENSG00000134758 OTTHUMG00000132265 uc002kxg.3 AF162680 NM_016271 "CCDS11904|CCDS11903" Q8WVD3 "22155992|16714285" MGI:1929211 RGD:621485 616319 HGNC:17765 "ENST00000261593.8|NM_016271.5" +HGNC:30342 RNF138P1 ring finger protein 138 pseudogene 1 pseudogene pseudogene Approved 5q11.2 05q11.2 ring finger protein 138, E3 ubiquitin protein ligase pseudogene 1 2004-04-22 2016-04-05 2016-04-05 379013 ENSG00000250853 OTTHUMG00000162239 AC025777 NR_001575 12477932 PGOHUM00000235223 HGNC:30342 +HGNC:50775 RNF138P2 ring finger protein 138 pseudogene 2 pseudogene pseudogene Approved 7p12.1 07p12.1 ring finger protein 138, E3 ubiquitin protein ligase pseudogene 2 2014-06-18 2016-04-05 2016-04-05 100419777 ENSG00000271194 OTTHUMG00000184469 NG_026566 PGOHUM00000263179 HGNC:50775 +HGNC:17023 RNF139 ring finger protein 139 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "TRC8|RCA1|HRCA1" translocation in renal carcinoma, chromosome 8 Ring finger proteins 58 2003-05-21 2018-05-04 11236 ENSG00000170881 OTTHUMG00000165072 uc003yrc.4 AF064801 NM_007218 CCDS6350 Q8WU17 9689122 MGI:1923091 RGD:1306670 603046 118347 HGNC:17023 "ENST00000303545.4|NM_007218.4" HGNC:17023 +HGNC:48940 RNF139-DT RNF139 divergent transcript non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 RNF139-AS1 RNF139 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-07-17 2021-06-07 2021-06-07 2021-06-07 101927612 ENSG00000245149 OTTHUMG00000165073 AA905116 NR_108047 RNF139-AS1 HGNC:48940 +HGNC:21159 RNF141 ring finger protein 141 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "ZFP26|ZNF230" Ring finger proteins 58 2003-05-21 2015-08-25 50862 ENSG00000110315 OTTHUMG00000165712 uc001mis.2 AF214680 NM_016422 CCDS7803 Q8WVD5 11672448 MGI:1914400 RGD:1303154 616641 HGNC:21159 "ENST00000265981.7|NM_016422.4" +HGNC:20457 RNF144A ring finger protein 144A protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "UBCE7IP4|KIAA0161|hUIP4" RNF144 ring finger protein 144 "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2003-02-18 2007-08-20 2007-08-20 2017-02-10 9781 ENSG00000151692 OTTHUMG00000090353 uc002qys.4 D79983 NM_014746 CCDS1657 P50876 "8724849|10431818" MGI:1344401 RGD:1561737 619454 HGNC:20457 "ENST00000320892.11|NM_014746.6" +HGNC:21578 RNF144B ring finger protein 144B protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "bA528A10.3|P53RFP" IBRDC2 IBR domain containing 2 "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2003-06-25 2007-08-20 2009-01-05 2018-11-19 255488 ENSG00000137393 OTTHUMG00000014322 uc003ncs.3 AK096832 NM_182757 CCDS34345 Q7Z419 MGI:2384986 RGD:1308856 618869 HGNC:21578 "ENST00000259939.4|NM_182757.4" +HGNC:20853 RNF145 ring finger protein 145 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 FLJ31951 Ring finger proteins 58 2003-05-08 2014-11-18 153830 ENSG00000145860 OTTHUMG00000130306 uc010jiq.3 BC042684 NM_144726 "CCDS56393|CCDS56392|CCDS56391|CCDS56390|CCDS4344" Q96MT1 MGI:1921565 RGD:1309561 HGNC:20853 "ENST00000424310.7|NM_001199383.2" +HGNC:21336 RNF146 ring finger protein 146 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 "DKFZp434O1427|dactylidin|dJ351K20.1" Ring finger proteins 58 2003-11-26 2016-10-05 81847 ENSG00000118518 OTTHUMG00000015522 uc003qav.4 AK027558 NM_030963 "CCDS56449|CCDS5136" Q9NTX7 MGI:1915281 RGD:1306482 612137 HGNC:21336 "ENST00000368314.6|NM_001242850.2" +HGNC:22411 RNF148 ring finger protein 148 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 MGC35222 Ring finger proteins 58 2003-10-24 2016-10-05 378925 ENSG00000235631 OTTHUMG00000157099 uc003vkk.2 BC029264 NM_198085 CCDS47692 Q8N7C7 8744354 MGI:1918550 RGD:1595417 HGNC:22411 "ENST00000434824.2|NM_198085.2" +HGNC:23137 RNF149 ring finger protein 149 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 FLJ90504 Ring finger proteins 58 2003-10-24 2016-10-05 284996 ENSG00000163162 OTTHUMG00000130685 uc002taz.3 AK074985 NM_173647 CCDS2051 Q8NC42 MGI:2677438 RGD:1308460 HGNC:23137 "ENST00000295317.4|NM_173647.4" +HGNC:23138 RNF150 ring finger protein 150 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 KIAA1214 Ring finger proteins 58 2003-10-24 2018-11-19 57484 ENSG00000170153 OTTHUMG00000161380 uc062zuo.1 AB033040 NM_020724 CCDS34065 Q9ULK6 10574462 MGI:2443860 RGD:1304572 HGNC:23138 "ENST00000515673.7|NM_020724.2" +HGNC:23235 RNF151 ring finger protein 151 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Ring finger proteins 58 2003-10-24 2019-03-19 146310 ENSG00000179580 OTTHUMG00000176852 uc002cnt.1 BC029501 NM_174903 "CCDS58405|CCDS86495" Q2KHN1 17577571 MGI:1914754 RGD:1309302 HGNC:23235 "ENST00000569714.6|NM_174903.6" +HGNC:26811 RNF152 ring finger protein 152 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 FLJ39176 Ring finger proteins 58 2003-12-15 2015-08-25 220441 ENSG00000176641 OTTHUMG00000132774 uc002lih.2 AK096495 NM_173557 CCDS11978 Q8N8N0 MGI:2443787 RGD:1305251 616512 HGNC:26811 "ENST00000312828.4|NM_173557.3" +HGNC:49743 RNF152P1 ring finger protein 152 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 2014-02-13 2014-02-13 100419687 ENSG00000214190 OTTHUMG00000019499 NG_023780 PGOHUM00000235955 HGNC:49743 +HGNC:29402 RNF157 ring finger protein 157 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA1917 Ring finger proteins 58 2004-02-27 2018-11-19 114804 ENSG00000141576 OTTHUMG00000132627 uc002jqz.4 AK091467 NM_052916 "CCDS32740|CCDS82208" Q96PX1 11572484 MGI:2442484 RGD:1591154 HGNC:29402 "ENST00000269391.11|NM_052916.3" +HGNC:44127 RNF157-AS1 RNF157 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 RNF157 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507218 ENSG00000267128 AK093500 NR_040017 RNF157-AS1 HGNC:44127 +HGNC:31696 RNF165 ring finger protein 165 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "ARKL2|RNF111L2|Ark2C|lncAMPC" lncRNA activated in metastatic PCa Ring finger proteins 58 2005-01-07 2021-11-26 494470 ENSG00000141622 OTTHUMG00000179230 uc002lcb.2 BC012190 NM_152470 "CCDS32823|CCDS58621" Q6ZSG1 "23610558|26656854" MGI:2444521 RGD:1560744 HGNC:31696 "ENST00000269439.12|NM_152470.3" +HGNC:28856 RNF166 ring finger protein 166 protein-coding gene gene with protein product Approved 16q24.2-q24.3 16q24.2-q24.3 "MGC2647|MGC14381" Ring finger proteins 58 2004-06-04 2019-03-19 115992 ENSG00000158717 OTTHUMG00000137863 uc002flk.3 AK057106 NM_178841 "CCDS10969|CCDS54056|CCDS54057" Q96A37 27880896 MGI:1915968 RGD:1302950 617178 HGNC:28856 "ENST00000312838.9|NM_178841.4" +HGNC:24544 RNF167 ring finger protein 167 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 DKFZP566H073 Ring finger proteins 58 2004-07-29 2016-10-05 26001 ENSG00000108523 OTTHUMG00000099397 uc059zxj.1 AL050060 NM_015528 "CCDS11060|CCDS82040" Q9H6Y7 "23129617|23353890" MGI:1917760 RGD:1305972 610431 HGNC:24544 "ENST00000262482.11|NM_015528.3" +HGNC:26661 RNF168 ring finger protein 168 protein-coding gene gene with protein product Approved 3q29 03q29 FLJ35794 ring finger protein 168, E3 ubiquitin protein ligase Ring finger proteins 58 2005-01-25 2016-04-04 2021-04-13 165918 ENSG00000163961 OTTHUMG00000155582 uc003fwq.4 AK054732 NM_152617 CCDS3317 Q8IYW5 "19203579|29403037" MGI:1917488 RGD:1585168 LRG_185|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_185.xml 612688 432037 HGNC:26661 "ENST00000318037.3|NM_152617.4" HGNC:26661 +HGNC:26961 RNF169 ring finger protein 169 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 KIAA1991 Ring finger proteins 58 2005-09-13 2018-11-19 254225 ENSG00000166439 OTTHUMG00000165516 uc001ovl.4 AB082522 NM_001098638 CCDS41691 Q8NCN4 12056414 MGI:1920257 RGD:1583288 618650 HGNC:26961 "ENST00000299563.5|NM_001098638.2" +HGNC:25358 RNF170 ring finger protein 170 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "DKFZP564A022|ADSA" SNAX1 sensory ataxia 1 (autosomal dominant) "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2005-01-26 2016-11-01 81790 ENSG00000120925 OTTHUMG00000165277 uc003xpo.4 AL136620 NM_030954 "CCDS55230|CCDS6138|CCDS55229" Q96K19 "11230166|21115467" MGI:1924983 RGD:1590842 614649 470984 HGNC:25358 "ENST00000527424.6|NM_030954.4" +HGNC:27735 RNF175 ring finger protein 175 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 FLJ34190 Ring finger proteins 58 2005-01-26 2015-09-07 285533 ENSG00000145428 OTTHUMG00000161557 uc003int.4 BC034385 NM_173662 CCDS47149 Q8N4F7 RGD:7713747 HGNC:27735 "ENST00000347063.9|NM_173662.4" +HGNC:27752 RNF180 ring finger protein 180 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 Ring finger proteins 58 2005-01-26 2014-11-19 285671 ENSG00000164197 OTTHUMG00000162278 uc003jti.4 AK090756 NM_178532 "CCDS47219|CCDS34169" Q86T96 MGI:1919066 RGD:1595064 616015 HGNC:27752 "ENST00000389100.9|NM_001113561.2" +HGNC:28037 RNF181 ring finger protein 181 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 HSPC238 Ring finger proteins 58 2007-06-19 2014-11-19 51255 ENSG00000168894 OTTHUMG00000130182 uc002spv.2 AF151072 NM_016494 CCDS1981 Q9P0P0 11042152 MGI:1913760 RGD:1359698 612490 HGNC:28037 "ENST00000306368.9|NM_016494.4" +HGNC:28522 RNF182 ring finger protein 182 protein-coding gene gene with protein product Approved 6p23 06p23 MGC33993 Ring finger proteins 58 2005-01-26 2019-03-19 221687 ENSG00000180537 OTTHUMG00000014280 uc021ylw.2 AK090576 NM_152737 CCDS4531 Q8N6D2 "18298843|30450663" MGI:3045355 RGD:1560399 HGNC:28522 "ENST00000488300.6|NM_152737.4" +HGNC:28721 RNF183 ring finger protein 183 protein-coding gene gene with protein product Approved 9q32 09q32 MGC4734 Ring finger proteins 58 2005-03-28 2019-03-19 138065 ENSG00000165188 OTTHUMG00000020520 uc004bha.4 NM_145051 CCDS43866 Q96D59 "29300766|29507230" MGI:1923322 RGD:1564412 HGNC:28721 "ENST00000489339.2|NM_001371237.1" +HGNC:26783 RNF185 ring finger protein 185 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 FLJ38628 hypothetical protein FLJ38628 Ring finger proteins 58 2005-03-31 2019-03-19 91445 ENSG00000138942 OTTHUMG00000151253 uc003akb.4 NM_152267 "CCDS46689|CCDS13890" Q96GF1 21931693 MGI:1922078 RGD:1564777 HGNC:26783 "ENST00000326132.11|NM_152267.4" +HGNC:41161 RNF185-AS1 RNF185 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.2 22q12.2 RNF185 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100852405 ENSG00000254835 OTTHUMG00000166845 uc003akf.2 BC069286 RNF185-AS1 +HGNC:25978 RNF186 ring finger protein 186 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 FLJ20225 hypothetical protein FLJ20225 Ring finger proteins 58 2005-03-31 2019-03-19 54546 ENSG00000178828 OTTHUMG00000002709 uc001bcr.3 NM_019062 CCDS199 Q9NXI6 "23896122|27503255" MGI:1914075 RGD:1596075 617163 HGNC:25978 "ENST00000375121.4|NM_019062.2" +HGNC:41127 RNF186-AS1 RNF186 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.13 01p36.13 Antisense RNAs 1987 2021-07-01 2021-07-01 121847981 ENSG00000235434 OTTHUMG00000002710 +HGNC:27146 RNF187 ring finger protein 187 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "RACO1|RACO-1" ring domain AP-1 co-activator 1 Ring finger proteins 58 2005-06-03 2005-08-09 2017-03-10 149603 ENSG00000168159 OTTHUMG00000040043 uc057qfa.1 BC008022 NM_001010858 CCDS76271 Q5TA31 27259582 MGI:1914224 RGD:1308636 613754 HGNC:27146 "ENST00000305943.9|NM_001010858.3" +HGNC:32947 RNF207 ring finger protein 207 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "FLJ46380|FLJ32096" OTTHUMG00000001089 C1orf188 chromosome 1 open reading frame 188 Ring finger proteins 58 2006-07-04 2015-08-25 388591 ENSG00000158286 OTTHUMG00000001089 uc001amg.4 AK128246 NM_207396 CCDS59 Q6ZRF8 MGI:2684989 RGD:1586262 616923 HGNC:32947 "ENST00000377939.5|NM_207396.3" HGNC:32947 +HGNC:41286 RNF207-AS1 RNF207 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.31 01p36.31 Antisense RNAs 1987 2020-03-19 2020-03-19 102724450 ENSG00000226944 OTTHUMG00000041452 NR_125997 +HGNC:25420 RNF208 ring finger protein 208 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 DKFZP761H1710 Ring finger proteins 58 2007-01-19 2016-11-01 727800 ENSG00000212864 OTTHUMG00000131782 uc064xks.1 AF416715 NM_031297 CCDS7037 Q9H0X6 11230166 MGI:1916096 RGD:1565957 618993 HGNC:25420 "ENST00000391553.3|NM_031297.7" +HGNC:27729 RNF212 ring finger protein 212 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ38841 LOC285498 hypothetical protein LOC285498 Ring finger proteins 58 2007-01-19 2007-01-19 2017-03-10 285498 ENSG00000178222 OTTHUMG00000118997 uc003gci.4 AK096160 NM_194439 "CCDS3345|CCDS54704|CCDS46996" Q495C1 23396135 MGI:3645767 RGD:1588767 612041 HGNC:27729 "ENST00000433731.7|NM_001131034.4" +HGNC:20438 RNF212B ring finger protein 212B protein-coding gene gene with protein product Approved 14q11.2 14q11.2 C14orf164 chromosome 14 open reading frame 164 Ring finger proteins 58 2003-09-25 2014-06-05 2014-06-05 2020-04-20 100507650 ENSG00000215277 OTTHUMG00000149918 NM_001282322 CCDS61401 A8MTL3 MGI:5589964 RGD:7500178 HGNC:20438 "ENST00000430154.7|NM_001282322.3" +HGNC:14539 RNF213 ring finger protein 213 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1554|NET57|ALO17" "mysterin|ALK lymphoma oligomerization partner on chromosome 17" "C17orf27|KIAA1618|MYMY2" "chromosome 17 open reading frame 27|KIAA1618|Moyamoya disease 2" Ring finger proteins 58 2001-03-05 2007-02-08 2007-02-08 2019-04-16 57674 ENSG00000173821 OTTHUMG00000161415 uc021uen.3 AK074030 NM_020914 "CCDS58606|CCDS11772" Q63HN8 "10997877|21048783|21799892" MGI:1289196 RGD:1308168 RNF213 613768 260602 HGNC:14539 "ENST00000582970.6|NM_001256071.3" HGNC:14539 +HGNC:54402 RNF213-AS1 RNF213 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Antisense RNAs 1987 2019-06-21 2019-06-21 100294362 ENSG00000263069 NR_029376 HGNC:54402 +HGNC:25335 RNF214 ring finger protein 214 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 DKFZp547C195 Ring finger proteins 58 2007-02-16 2007-02-16 2014-11-18 257160 ENSG00000167257 OTTHUMG00000167069 uc001pqt.5 AL834448 NM_001077239 "CCDS60976|CCDS41720" Q8ND24 MGI:2444451 RGD:1307500 HGNC:25335 "ENST00000300650.9|NM_207343.4" +HGNC:33434 RNF215 ring finger protein 215 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 Ring finger proteins 58 2007-04-12 2014-11-19 200312 ENSG00000099999 OTTHUMG00000151016 uc003ahp.4 NM_001017981 CCDS33633 Q9Y6U7 MGI:1918923 RGD:1310738 HGNC:33434 "ENST00000382363.8|NM_001017981.2" +HGNC:21698 RNF216 ring finger protein 216 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "TRIAD3|UBCE7IP1|ZIN" "Ring finger proteins|RBR E3 ubiquitin ligases|MicroRNA protein coding host genes" "58|1391|1691" 2007-08-20 2007-08-20 2017-12-15 54476 ENSG00000011275 OTTHUMG00000155500 uc003sox.3 AY062174 NM_207111 "CCDS34594|CCDS34595" Q9NWF9 "11854271|15107846|25484083" MGI:1344349 RGD:1565135 609948 357214 HGNC:21698 "ENST00000389902.8|NM_207111.4" HGNC:21698 +HGNC:41463 RNF216-IT1 RNF216 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 7p22.1 07p22.1 RNF216 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874342 ENSG00000237738 OTTHUMG00000155498 uc031swm.1 NR_046834 RNF216-IT1 HGNC:41463 +HGNC:33610 RNF216P1 ring finger protein 216 pseudogene 1 pseudogene pseudogene Approved 7p22.1 07p22.1 RNF216L ring finger protein 216-like 2007-08-20 2011-09-15 2011-09-15 2014-11-18 441191 ENSG00000196204 OTTHUMG00000151797 AK124529 XM_001126561 Q6NUR6 PGOHUM00000260295 HGNC:33610 +HGNC:21487 RNF217 ring finger protein 217 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "MGC26996|dJ84N20.1" "C6orf172|IBRDC1" "chromosome 6 open reading frame 172|IBR domain containing 1" "Ring finger proteins|RBR E3 ubiquitin ligases" "58|1391" 2003-06-17 2007-08-20 2007-08-20 2017-12-15 154214 ENSG00000146373 OTTHUMG00000015504 uc003pzr.5 BC026087 NM_152553 "CCDS69191|CCDS5129" Q8TC41 25298122 MGI:3610311 RGD:1306836 618592 HGNC:21487 "ENST00000521654.7|NM_001286398.3" +HGNC:50866 RNF217-AS1 RNF217 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 6q22.31 06q22.31 STL six-twelve leukemia Antisense RNAs 1987 2014-07-10 2014-07-15 7955 ENSG00000236548 OTTHUMG00000015501 NR_026876 9087565 602532 RNF217-AS1 HGNC:50866 +HGNC:25552 RNF220 ring finger protein 220 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 FLJ10597 C1orf164 chromosome 1 open reading frame 164 "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2005-07-18 2008-06-13 2008-06-13 2014-11-18 55182 ENSG00000187147 OTTHUMG00000007697 uc001clw.2 AK056424 NM_018150 CCDS510 Q5VTB9 11042152 MGI:1913993 RGD:1598210 616136 HGNC:25552 "ENST00000361799.7|NM_018150.4" +HGNC:34517 RNF222 ring finger protein 222 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 Ring finger proteins 58 2008-08-14 2015-08-25 643904 ENSG00000189051 OTTHUMG00000132049 uc010vuy.2 NM_001146684.2 CCDS45608 A6NCQ9 MGI:2443227 RGD:1310573 HGNC:34517 "ENST00000399398.3|NM_001146684.3" +HGNC:40020 RNF223 ring finger protein 223 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 Ring finger proteins 58 2011-05-05 2015-09-09 401934 ENSG00000237330 OTTHUMG00000185582 uc021oen.2 NM_001205252 CCDS53257 E7ERA6 MGI:3588193 RGD:1587009 HGNC:40020 "ENST00000453464.3|NM_001205252.2" +HGNC:41912 RNF224 ring finger protein 224 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 Ring finger proteins 58 2011-05-23 2016-11-01 643596 ENSG00000233198 OTTHUMG00000187399 uc022bqe.2 BX255925 NM_001190228 CCDS55356 P0DH78 MGI:2685603 RGD:1564535 HGNC:41912 "ENST00000445101.4|NM_001190228.2" +HGNC:51249 RNF225 ring finger protein 225 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Ring finger proteins 58 2014-10-08 2015-09-07 646862 ENSG00000269855 OTTHUMG00000189258 NM_001195135 CCDS74477 M0QZC1 MGI:1924198 RGD:1561909 HGNC:51249 "ENST00000601382.3|NM_001195135.2" +HGNC:27571 RNF227 ring finger protein 227 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 LINC02581 long intergenic non-protein coding RNA 2581 Ring finger proteins 58 2017-09-28 2017-12-15 2017-12-15 2017-12-15 284023 ENSG00000179859 OTTHUMG00000132873 NM_001358699 CCDS86570 A6NIN4 MGI:1915359 RGD:1563441 HGNC:27571 "ENST00000324348.9|NM_001358699.2" +HGNC:30206 RNFT1 ring finger protein, transmembrane 1 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 PTD016 Ring finger proteins 58 2008-02-26 2019-03-19 51136 ENSG00000189050 OTTHUMG00000148658 uc002iya.4 BC006971 NM_016125 CCDS11622 Q5M7Z0 "27485036|30653426" MGI:1924142 RGD:1562411 615172 HGNC:30206 "ENST00000305783.13|NM_016125.4" +HGNC:51346 RNFT1-DT RNFT1 divergent transcript non-coding RNA RNA, long non-coding Approved 17q23.1 17q23.1 Divergent transcripts 1990 2017-11-03 2017-11-03 101927755 ENSG00000267302 OTTHUMG00000179978 NR_110815 HGNC:51346 +HGNC:44387 RNFT1P1 ring finger protein, transmembrane 1 pseudogene 1 pseudogene pseudogene Approved 2p24.1 02p24.1 2012-09-17 2012-09-17 100420886 NG_021212 PGOHUM00000239983 HGNC:44387 +HGNC:44388 RNFT1P2 ring finger protein, transmembrane 1 pseudogene 2 pseudogene pseudogene Approved 1p31.1 01p31.1 2012-09-17 2012-09-17 100132264 ENSG00000233333 OTTHUMG00000041117 NG_022725 PGOHUM00000244076 HGNC:44388 +HGNC:44389 RNFT1P3 ring finger protein, transmembrane 1 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2012-09-17 2012-09-17 101929203 ENSG00000187870 OTTHUMG00000059553 NG_046381 PGOHUM00000259168 HGNC:44389 +HGNC:25905 RNFT2 ring finger protein, transmembrane 2 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 FLJ14627 TMEM118 transmembrane protein 118 Ring finger proteins 58 2006-01-23 2008-02-26 2008-02-26 2022-01-11 84900 ENSG00000135119 OTTHUMG00000150882 uc009zwn.4 AK027533 NM_032814 "CCDS9180|CCDS44987" Q96EX2 31990690 MGI:2442859 RGD:1560195 HGNC:25905 "ENST00000257575.9|NM_001382266.1" +HGNC:10073 RNGTT RNA guanylyltransferase and 5'-phosphatase protein-coding gene gene with protein product Approved 6q15 06q15 "HCE|HCE1|hCAP" Atypical dual specificity phosphatases 896 1998-09-22 2016-10-05 8732 ENSG00000111880 OTTHUMG00000015190 uc003pmr.4 AF025654 NM_003800 "CCDS69153|CCDS5017" O60942 "9828141|9512541" MGI:1329041 RGD:1311410 603512 "2.7.7.50|3.1.3.33" HGNC:10073 "ENST00000369485.9|NM_003800.5" +HGNC:39652 RNGTTP1 RNA guanylyltransferase and 5'-phosphatase pseudogene 1 pseudogene pseudogene Approved 21q21.3 21q21.3 2011-03-18 2011-03-18 100421428 ENSG00000237731 OTTHUMG00000155486 NG_025063 PGOHUM00000239158 HGNC:39652 +HGNC:10074 RNH1 ribonuclease/angiogenin inhibitor 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 RAI RNH ribonuclease/angiogenin inhibitor 1990-02-24 2005-06-01 2005-06-01 2015-08-25 6050 ENSG00000023191 OTTHUMG00000119086 uc001lpq.3 NM_203389 CCDS7697 P13489 MGI:1195456 RGD:621398 173320 HGNC:10074 "ENST00000354420.7|NM_203387.3" +HGNC:25641 RNLS renalase, FAD dependent amine oxidase protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "FLJ11218|renalase" C10orf59 chromosome 10 open reading frame 59 2004-05-27 2009-04-22 2016-06-08 2016-06-08 55328 ENSG00000184719 OTTHUMG00000018692 uc001kfe.4 BC005364 NM_018363 "CCDS31239|CCDS7388" Q5VYX0 "15841207|17565281" MGI:1915045 RGD:1309804 609360 HGNC:25641 "ENST00000331772.9|NM_001031709.3" +HGNC:10075 RNMT RNA guanine-7 methyltransferase protein-coding gene gene with protein product Approved 18p11.21 18p11.21 RG7MT1 mRNA cap guanine-N7 methyltransferase RNA (guanine-7-) methyltransferase 7BS DNA/RNA methyltransferases 2059 1998-09-22 2016-04-06 2016-04-06 8731 ENSG00000101654 OTTHUMG00000131718 uc002ksl.2 AF067791 NM_003799 "CCDS11867|CCDS77156" O43148 "9828141|9705270" MGI:1915147 RGD:1309242 603514 2.1.1.56 HGNC:10075 "ENST00000383314.7|NM_003799.3" +HGNC:18666 RNPC3 RNA binding region (RNP1, RRM) containing 3 protein-coding gene gene with protein product Approved 1p21.1 01p21.1 "KIAA1839|FLJ20008|RBM40|SNRNP65" U11/U12 snRNP 65K "RNA binding motif containing|U11/U12 di-snRNP" "725|1521" 2002-09-17 2015-11-05 2015-11-05 55599 ENSG00000185946 OTTHUMG00000166613 uc057isu.1 "AB058742|AY099329" NM_017619 CCDS781 Q96LT9 "14974681|15146077" MGI:1914475 RGD:1582776 618016 402549 HGNC:18666 "ENST00000423855.7|NM_017619.4" HGNC:18666 +HGNC:55855 RNPC3-DT RNPC3 divergent transcript non-coding RNA RNA, long non-coding Approved 1p21.1 01p21.1 Divergent transcripts 1990 2021-09-03 2021-09-03 101928436 ENSG00000224613 NR_168319 +HGNC:47036 RNPC3P1 RNA binding region (RNP1, RRM) containing 3 pseudogene 1 pseudogene pseudogene Approved 3p13 03p13 2013-04-04 2015-11-05 2015-11-05 654340 NG_022206 PGOHUM00000237647 HGNC:47036 +HGNC:10078 RNPEP arginyl aminopeptidase protein-coding gene gene with protein product Approved 1q32.1 01q32.1 APB aminopeptidase B arginyl aminopeptidase (aminopeptidase B) "Aminopeptidases|M1 metallopeptidases|MicroRNA protein coding host genes" "104|1437|1691" 1993-04-15 2016-01-25 2017-04-27 6051 ENSG00000176393 OTTHUMG00000035866 uc001gxd.4 BC001064 NM_020216 CCDS1418 Q9H4A4 "9533033|10467730" MGI:2384902 RGD:621137 602675 objectId:1564 3.4.11.6 HGNC:10078 "ENST00000295640.9|NM_020216.4" +HGNC:10079 RNPEPL1 arginyl aminopeptidase like 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 aminopeptidase B-like 1 arginyl aminopeptidase (aminopeptidase B)-like 1 M1 metallopeptidases 1437 2000-09-01 2016-06-27 2016-07-29 57140 ENSG00000142327 OTTHUMG00000133357 uc061uih.1 NM_018226 Q9HAU8 19508204 MGI:1914170 RGD:1595210 605287 M01.022 objectId:1565 3.4.11.- HGNC:10079 "ENST00000270357.10|NM_018226.6" +HGNC:10080 RNPS1 RNA binding protein with serine rich domain 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 RNA-binding protein S1, serine-rich domain "RNA binding motif containing|ASAP complex" "725|1236" 1999-09-28 2016-04-14 2016-04-14 10921 ENSG00000205937 OTTHUMG00000128828 uc002cpw.4 AF015608 NM_080594 "CCDS66907|CCDS73811|CCDS10465" Q15287 "9580558|8543184" MGI:97960 RGD:1307522 606447 HGNC:10080 "ENST00000320225.10|NM_080594.4" +HGNC:39525 RNPS1P1 RNA binding protein with serine rich domain 1 pseudogene 1 pseudogene pseudogene Approved 4p15.33 04p15.33 RNA binding protein S1, serine-rich domain pseudogene 1 2011-02-14 2016-04-14 2016-04-14 643446 ENSG00000250896 OTTHUMG00000160043 NG_023467 HGNC:39525 +HGNC:10082 RNR1 RNA, ribosomal 45S cluster 1 non-coding RNA RNA, cluster Approved 13p12 not on reference assembly 13p12 not on reference assembly 45S rDNA cluster 1 "RNA, ribosomal 1|RNA, ribosomal cluster 1" Ribosomal 45S RNA clusters 1381 2001-06-22 2017-02-02 2019-03-21 6052 11350117 180450 +HGNC:10083 RNR2 RNA, ribosomal 45S cluster 2 non-coding RNA RNA, cluster Approved 14p12 not on reference assembly 14p12 not on reference assembly 45S rDNA cluster 2 "RNA, ribosomal 2|RNA, ribosomal cluster 2" Ribosomal 45S RNA clusters 1381 2001-06-22 2017-02-02 2017-03-17 6053 AF305858 NR_024197 11350117 180451 +HGNC:10084 RNR3 RNA, ribosomal 45S cluster 3 non-coding RNA RNA, cluster Approved 15p12 not on reference assembly 15p12 not on reference assembly 45S rDNA cluster 3 "RNA, ribosomal 3|RNA, ribosomal cluster 3" Ribosomal 45S RNA clusters 1381 2001-06-22 2017-02-02 2017-03-17 6054 "11350117|6954460" 180452 +HGNC:10085 RNR4 RNA, ribosomal 45S cluster 4 non-coding RNA RNA, cluster Approved 21p12 not on reference assembly 21p12 not on reference assembly 45S rDNA cluster 4 "RNA, ribosomal 4|RNA, ribosomal cluster 4" Ribosomal 45S RNA clusters 1381 2001-06-22 2017-02-02 2019-03-21 6055 11350117 180453 +HGNC:10086 RNR5 RNA, ribosomal 45S cluster 5 non-coding RNA RNA, cluster Approved 22p12 not on reference assembly 22p12 not on reference assembly 45S rDNA cluster 5 "RNA, ribosomal 5|RNA, ribosomal cluster 5" Ribosomal 45S RNA clusters 1381 2001-06-22 2017-02-02 2019-03-21 6056 U13369 11350117 180454 +HGNC:10120 RNU1-1 RNA, U1 small nuclear 1 non-coding RNA RNA, small nuclear Approved 1p36.13 01p36.13 "Rnu1a1|U1|HU1-1|U1A1|HSD1" "RNU1|RNU1G4|RNU1A3|RNU1A" "RNA, U1G4 small nuclear|RNA, U1A3 small nuclear|RNA, U1A small nuclear" "Small nuclear RNAs|U1 small nuclear ribonucleoprotein" "849|1499" 1986-01-01 2009-11-05 2009-11-05 2018-10-11 26871 ENSG00000206652 uc031tqt.1 NR_004430 12082087 HGNC:10120 +HGNC:10123 RNU1-2 RNA, U1 small nuclear 2 non-coding RNA RNA, small nuclear Approved 1p36.13 01p36.13 "U1C1|U1C21" "RNU1C1|RNU1C2" "RNA, U1C1 small nuclear|RNA, U1C2 small nuclear" Small nuclear RNAs 849 1999-12-14 2009-11-05 2009-11-05 2014-11-18 26870 ENSG00000207005 uc031trd.1 M28012 NR_004427 3837185 HGNC:10123 +HGNC:10130 RNU1-3 RNA, U1 small nuclear 3 non-coding RNA RNA, small nuclear Approved 1p36.1 01p36.1 HSD4 RNU1G3 RNA, U1G3 small nuclear Small nuclear RNAs 849 1999-12-14 2009-11-05 2009-11-05 2014-11-19 26869 ENSG00000207513 uc031tqw.1 M20032 NR_004408 6179629 HGNC:10130 +HGNC:10128 RNU1-4 RNA, U1 small nuclear 4 non-coding RNA RNA, small nuclear Approved 1p36.1 01p36.1 "HSD6|U1E2|HSD2|U1D2|HSD5|U1B2|U1F|HSD7" "RNU1E2|RNU1G2|RNU1D2|RNU1F1|RNU1G1" "RNA, U1E2 small nuclear|RNA, U1G2 small nuclear|RNA, U1D2 small nuclear|RNA, U1F1 small nuclear|RNA, U1G1 small nuclear" Small nuclear RNAs 849 1999-12-14 2009-11-05 2009-11-05 2014-11-18 6060 ENSG00000207389 uc031tra.1 M20034 NR_004421 6179629 180680 HGNC:10128 +HGNC:48304 RNU1-5P RNA, U1 small nuclear 5, pseudogene pseudogene pseudogene Approved 1p36.13 01p36.13 RNU1-5 RNA, U1 small nuclear 5 2013-04-25 2013-05-10 2013-05-10 2015-01-30 107105261 ENSG00000277234 NG_046579 HGNC:48304 +HGNC:48305 RNU1-6P RNA, U1 small nuclear 6, pseudogene pseudogene pseudogene Approved 1p36.13 01p36.13 RNU1-6 RNA, U1 small nuclear 6 2013-04-25 2013-05-10 2013-05-10 2015-01-30 106480152 ENSG00000277344 NG_045316 HGNC:48305 +HGNC:48306 RNU1-7P RNA, U1 small nuclear 7, pseudogene pseudogene pseudogene Approved 1p36.23 01p36.23 RNU1-7 RNA, U1 small nuclear 7 2013-04-25 2013-05-10 2013-05-10 2013-05-10 106481952 ENSG00000200975 NG_043172 HGNC:48306 +HGNC:48307 RNU1-8P RNA, U1 small nuclear 8, pseudogene pseudogene pseudogene Approved 1p36.23 01p36.23 RNU1-8 RNA, U1 small nuclear 8 2013-04-25 2013-05-10 2013-05-10 2013-05-10 106481604 ENSG00000207056 NG_045856 HGNC:48307 +HGNC:10137 RNU1-11P RNA, U1 small nuclear 11, pseudogene pseudogene pseudogene Approved 6p24.1 06p24.1 "U1P1A|RNU1P1" RNU1P5 "RNA, U1 small nuclear pseudogene 5|RNA, U1 small nuclear 11 (pseudogene)" 1999-12-14 2009-11-06 2011-04-15 2014-11-19 26861 ENSG00000206702 uc063lxn.1 J00319 NG_001264 6180116 HGNC:10137 +HGNC:10139 RNU1-14P RNA, U1 small nuclear 14, pseudogene pseudogene pseudogene Approved 7p12.1 07p12.1 U1P17 RNU1P7 RNA, U1 small nuclear pseudogene 7 1999-12-14 2009-11-06 2011-04-15 2014-11-19 26859 ENSG00000199629 uc064drq.1 M25192 NG_001262 6173130 HGNC:10139 +HGNC:10140 RNU1-15P RNA, U1 small nuclear 15, pseudogene pseudogene pseudogene Approved 7p15.3 07p15.3 U1P11 RNU1P8 RNA, U1 small nuclear pseudogene 8 1999-12-14 2009-11-06 2011-04-15 2014-11-19 26858 ENSG00000195024 uc064bwd.1 M25191 NG_001261 6085956 HGNC:10140 +HGNC:39890 RNU1-16P RNA, U1 small nuclear 16, pseudogene pseudogene pseudogene Approved 13q34 13q34 U1.64 2011-04-08 2011-08-03 2011-08-03 2013-05-01 100873860 ENSG00000202347 uc058ynj.1 NG_032634 HGNC:39890 +HGNC:41943 RNU1-17P RNA, U1 small nuclear 17, pseudogene pseudogene pseudogene Approved 5q35.3 05q35.3 2011-05-19 2011-08-03 2011-08-03 2013-05-01 100873814 ENSG00000199892 uc063kum.1 NG_032596 HGNC:41943 +HGNC:41944 RNU1-18P RNA, U1 small nuclear 18, pseudogene pseudogene pseudogene Approved 6q22.31 06q22.31 2011-05-19 2011-08-03 2011-08-03 2013-05-01 100873815 ENSG00000199932 uc063rat.1 NG_032597 HGNC:41944 +HGNC:41945 RNU1-19P RNA, U1 small nuclear 19, pseudogene pseudogene pseudogene Approved 10q23.2 10q23.2 2011-05-19 2011-08-03 2011-08-03 2013-05-01 100873861 ENSG00000200176 uc057uqm.1 NG_032635 HGNC:41945 +HGNC:41946 RNU1-20P RNA, U1 small nuclear 20, pseudogene pseudogene pseudogene Approved 3q29 03q29 2011-05-19 2011-08-03 2011-08-03 2013-05-01 100873816 ENSG00000200184 uc062rlr.1 NG_051966 HGNC:41946 +HGNC:41947 RNU1-21P RNA, U1 small nuclear 21, pseudogene pseudogene pseudogene Approved 11q24.1 11q24.1 2011-05-19 2011-08-03 2011-08-03 2013-05-01 100873862 ENSG00000200197 uc058iqh.1 NG_032636 HGNC:41947 +HGNC:41963 RNU1-22P RNA, U1 small nuclear 22, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 2011-05-24 2011-08-03 2011-08-03 2013-05-01 100873863 ENSG00000200204 uc059pva.1 NG_032637 HGNC:41963 +HGNC:41964 RNU1-23P RNA, U1 small nuclear 23, pseudogene pseudogene pseudogene Approved 20p11.21 20p11.21 2011-05-24 2011-08-03 2011-08-03 2013-05-01 106478980 ENSG00000200231 uc061vwd.1 NG_043946 HGNC:41964 +HGNC:42504 RNU1-24P RNA, U1 small nuclear 24, pseudogene pseudogene pseudogene Approved 13q33.1 13q33.1 U1.41 2011-08-02 2011-08-03 2011-08-03 2014-11-19 100873865 ENSG00000201155 uc058ybp.1 NG_032638 HGNC:42504 +HGNC:37497 RNU1-27P RNA, U1 small nuclear 27, pseudogene pseudogene pseudogene Approved 14q13.1 14q13.1 RNU1-7P RNA, U1 small nuclear 7, pseudogene 2009-11-05 2013-05-01 2013-05-01 2014-11-18 26865 ENSG00000206596 NR_004424 HGNC:37497 +HGNC:37498 RNU1-28P RNA, U1 small nuclear 28, pseudogene pseudogene pseudogene Approved 14q13.1 14q13.1 "RNU1-8|RNU1-8P" "RNA, U1 small nuclear 8|RNA, U1 small nuclear 8, pseudogene" 2009-11-05 2013-05-01 2013-05-01 2014-11-19 26866 ENSG00000206588 NR_004402 HGNC:37498 +HGNC:48371 RNU1-29P RNA, U1 small nuclear 29, pseudogene pseudogene pseudogene Approved 7q31.31 07q31.31 2013-05-15 2015-01-30 106480154 ENSG00000271739 NG_043121 HGNC:48371 +HGNC:48372 RNU1-30P RNA, U1 small nuclear 30, pseudogene pseudogene pseudogene Approved 3q21.3 03q21.3 2013-05-15 2015-01-30 106480662 ENSG00000272020 NG_012260 HGNC:48372 +HGNC:48373 RNU1-31P RNA, U1 small nuclear 31, pseudogene pseudogene pseudogene Approved 2q37.2 02q37.2 2013-05-15 2013-05-15 106481606 ENSG00000200745 NG_045863 HGNC:48373 +HGNC:48374 RNU1-32P RNA, U1 small nuclear 32, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 2013-05-15 2013-05-15 106480155 ENSG00000200807 NG_045020 HGNC:48374 +HGNC:48375 RNU1-33P RNA, U1 small nuclear 33, pseudogene pseudogene pseudogene Approved 6q24.3 06q24.3 2013-05-15 2013-05-15 106480156 ENSG00000201119 NG_043136 HGNC:48375 +HGNC:48376 RNU1-34P RNA, U1 small nuclear 34, pseudogene pseudogene pseudogene Approved 6q14.1 06q14.1 2013-05-15 2013-05-15 106481607 ENSG00000201291 NG_051931 HGNC:48376 +HGNC:48377 RNU1-35P RNA, U1 small nuclear 35, pseudogene pseudogene pseudogene Approved 8q24.23 08q24.23 2013-05-15 2013-05-15 106480157 ENSG00000199652 NG_043144 HGNC:48377 +HGNC:48378 RNU1-36P RNA, U1 small nuclear 36, pseudogene pseudogene pseudogene Approved 4q22.1 04q22.1 2013-05-15 2013-05-15 106481783 ENSG00000202000 NG_043861 HGNC:48378 +HGNC:48380 RNU1-38P RNA, U1 small nuclear 38, pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 2013-05-15 2013-05-15 106481608 ENSG00000199687 NG_044488 HGNC:48380 +HGNC:48381 RNU1-39P RNA, U1 small nuclear 39, pseudogene pseudogene pseudogene Approved 5q35.3 05q35.3 2013-05-15 2013-05-15 106481953 ENSG00000206624 NG_043180 HGNC:48381 +HGNC:48382 RNU1-40P RNA, U1 small nuclear 40, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2013-05-15 2013-05-15 106480158 ENSG00000252625 NG_045338 HGNC:48382 +HGNC:48383 RNU1-41P RNA, U1 small nuclear 41, pseudogene pseudogene pseudogene Approved Yq11.222 Yq11.222 2013-05-15 2013-05-15 107105262 ENSG00000251970 +HGNC:48384 RNU1-42P RNA, U1 small nuclear 42, pseudogene pseudogene pseudogene Approved 17q21.32 17q21.32 2013-05-15 2013-05-15 106481609 ENSG00000200903 NG_044496 HGNC:48384 +HGNC:48385 RNU1-43P RNA, U1 small nuclear 43, pseudogene pseudogene pseudogene Approved 3q13.11 03q13.11 2013-05-15 2013-05-15 106480159 ENSG00000201922 NG_045344 HGNC:48385 +HGNC:48386 RNU1-44P RNA, U1 small nuclear 44, pseudogene pseudogene pseudogene Approved 4q31.22 04q31.22 2013-05-15 2013-05-15 106480160 ENSG00000207182 NG_043168 HGNC:48386 +HGNC:48387 RNU1-45P RNA, U1 small nuclear 45, pseudogene pseudogene pseudogene Approved 4q34.3 04q34.3 2013-05-15 2013-05-15 106481610 ENSG00000253000 NG_044505 HGNC:48387 +HGNC:48388 RNU1-46P RNA, U1 small nuclear 46, pseudogene pseudogene pseudogene Approved 18q21.2 18q21.2 2013-05-15 2013-05-15 106480663 ENSG00000207154 NG_043095 HGNC:48388 +HGNC:48389 RNU1-47P RNA, U1 small nuclear 47, pseudogene pseudogene pseudogene Approved 14q32.2 14q32.2 2013-05-15 2013-05-15 106480161 ENSG00000199836 NG_043175 HGNC:48389 +HGNC:48390 RNU1-48P RNA, U1 small nuclear 48, pseudogene pseudogene pseudogene Approved Yq11.222 Yq11.222 2013-05-15 2013-05-15 107080628 ENSG00000252209 NG_004636 HGNC:48390 +HGNC:48391 RNU1-49P RNA, U1 small nuclear 49, pseudogene pseudogene pseudogene Approved 4p13 04p13 2013-05-15 2013-05-15 106480162 ENSG00000200338 NG_043183 HGNC:48391 +HGNC:48393 RNU1-51P RNA, U1 small nuclear 51, pseudogene pseudogene pseudogene Approved 4q35.2 04q35.2 2013-05-15 2013-05-15 106480163 ENSG00000202215 NG_043194 HGNC:48393 +HGNC:48394 RNU1-52P RNA, U1 small nuclear 52, pseudogene pseudogene pseudogene Approved 17q22 17q22 2013-05-15 2013-05-15 106480164 ENSG00000206917 NG_047169 HGNC:48394 +HGNC:48396 RNU1-54P RNA, U1 small nuclear 54, pseudogene pseudogene pseudogene Approved 6p21.2 06p21.2 2013-05-15 2013-05-15 106481611 ENSG00000252990 NG_045876 HGNC:48396 +HGNC:48397 RNU1-55P RNA, U1 small nuclear 55, pseudogene pseudogene pseudogene Approved 20p12.3 20p12.3 2013-05-15 2013-05-15 106481954 ENSG00000202380 NG_043189 HGNC:48397 +HGNC:48398 RNU1-56P RNA, U1 small nuclear 56, pseudogene pseudogene pseudogene Approved Xq13.1 Xq13.1 2013-05-15 2013-05-15 106480165 ENSG00000212605 NG_043209 HGNC:48398 +HGNC:48399 RNU1-57P RNA, U1 small nuclear 57, pseudogene pseudogene pseudogene Approved Xq23 Xq23 2013-05-15 2013-05-15 106480166 ENSG00000207220 NG_043220 HGNC:48399 +HGNC:48400 RNU1-58P RNA, U1 small nuclear 58, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-05-15 2013-05-15 106481612 ENSG00000199283 NG_045879 HGNC:48400 +HGNC:48403 RNU1-61P RNA, U1 small nuclear 61, pseudogene pseudogene pseudogene Approved 6p21.32 06p21.32 2013-05-15 2013-05-15 106481980 ENSG00000251916 NG_045441 HGNC:48403 +HGNC:48404 RNU1-62P RNA, U1 small nuclear 62, pseudogene pseudogene pseudogene Approved 3p13 03p13 2013-05-15 2013-05-15 106481613 ENSG00000199469 NG_044532 HGNC:48404 +HGNC:48405 RNU1-63P RNA, U1 small nuclear 63, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 2013-05-15 2013-05-15 106480664 ENSG00000206629 NG_043104 HGNC:48405 +HGNC:48406 RNU1-64P RNA, U1 small nuclear 64, pseudogene pseudogene pseudogene Approved 6p24.2 06p24.2 2013-05-15 2013-05-15 106480168 ENSG00000202313 NG_043240 HGNC:48406 +HGNC:48407 RNU1-65P RNA, U1 small nuclear 65, pseudogene pseudogene pseudogene Approved 10q23.1 10q23.1 2013-05-15 2013-05-15 106481614 ENSG00000200789 NG_044537 HGNC:48407 +HGNC:48409 RNU1-67P RNA, U1 small nuclear 67, pseudogene pseudogene pseudogene Approved Xq24 Xq24 2013-05-15 2013-05-15 106480169 ENSG00000207175 NG_045374 HGNC:48409 +HGNC:48410 RNU1-68P RNA, U1 small nuclear 68, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 2013-05-15 2019-07-26 106481615 ENSG00000275229 NG_044546 HGNC:48410 +HGNC:48412 RNU1-70P RNA, U1 small nuclear 70, pseudogene pseudogene pseudogene Approved 3q26.2 03q26.2 2013-05-15 2013-05-15 107105264 ENSG00000199488 NG_046581 HGNC:48412 +HGNC:48414 RNU1-72P RNA, U1 small nuclear 72, pseudogene pseudogene pseudogene Approved 7q32.1 07q32.1 2013-05-15 2013-05-15 106481955 ENSG00000199846 NG_045358 HGNC:48414 +HGNC:48415 RNU1-73P RNA, U1 small nuclear 73, pseudogene pseudogene pseudogene Approved 5q15 05q15 2013-05-15 2013-05-15 106481616 ENSG00000206698 NG_045893 HGNC:48415 +HGNC:48416 RNU1-74P RNA, U1 small nuclear 74, pseudogene pseudogene pseudogene Approved 1q42.2 01q42.2 2013-05-15 2013-05-15 106480171 ENSG00000206835 NG_043270 HGNC:48416 +HGNC:48417 RNU1-75P RNA, U1 small nuclear 75, pseudogene pseudogene pseudogene Approved 1p12 01p12 2013-05-15 2013-05-15 106480172 ENSG00000194297 NG_043279 HGNC:48417 +HGNC:48418 RNU1-76P RNA, U1 small nuclear 76, pseudogene pseudogene pseudogene Approved 5p15.31 05p15.31 2013-05-15 2013-05-15 106481617 ENSG00000199773 NG_044560 HGNC:48418 +HGNC:48419 RNU1-77P RNA, U1 small nuclear 77, pseudogene pseudogene pseudogene Approved 15q25.2 15q25.2 2013-05-15 2013-05-15 106480173 ENSG00000212170 NG_045385 HGNC:48419 +HGNC:48420 RNU1-78P RNA, U1 small nuclear 78, pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 2013-05-15 2013-05-15 106480665 ENSG00000212550 NG_043115 HGNC:48420 +HGNC:48421 RNU1-79P RNA, U1 small nuclear 79, pseudogene pseudogene pseudogene Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus 2013-05-15 2019-03-11 107521942 ENSG00000265223 NG_046842 +HGNC:48422 RNU1-80P RNA, U1 small nuclear 80, pseudogene pseudogene pseudogene Approved 17q25.3 17q25.3 2013-05-15 2013-05-15 106480174 ENSG00000238898 NG_043297 HGNC:48422 +HGNC:48424 RNU1-82P RNA, U1 small nuclear 82, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-05-15 2013-05-15 106480175 ENSG00000212153 NG_045392 HGNC:48424 +HGNC:48425 RNU1-83P RNA, U1 small nuclear 83, pseudogene pseudogene pseudogene Approved 12q14.2 12q14.2 2013-05-15 2013-05-15 106480176 ENSG00000200296 NG_045395 HGNC:48425 +HGNC:48426 RNU1-84P RNA, U1 small nuclear 84, pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 2013-05-15 2013-05-15 106481618 ENSG00000202317 NG_044568 HGNC:48426 +HGNC:48428 RNU1-86P RNA, U1 small nuclear 86, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2013-05-15 2013-05-15 106480666 ENSG00000251917 NG_043122 HGNC:48428 +HGNC:48430 RNU1-88P RNA, U1 small nuclear 88, pseudogene pseudogene pseudogene Approved 6p21.2 06p21.2 2013-05-15 2013-05-15 106481619 ENSG00000238554 NG_044578 HGNC:48430 +HGNC:48431 RNU1-89P RNA, U1 small nuclear 89, pseudogene pseudogene pseudogene Approved 4q28.3 04q28.3 2013-05-15 2013-05-15 106480412 ENSG00000207322 NG_043137 HGNC:48431 +HGNC:48433 RNU1-91P RNA, U1 small nuclear 91, pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 2013-05-15 2013-05-15 106480179 ENSG00000201616 NG_045406 HGNC:48433 +HGNC:48435 RNU1-93P RNA, U1 small nuclear 93, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2013-05-15 2013-05-15 106480180 ENSG00000201574 NG_045409 HGNC:48435 +HGNC:48436 RNU1-94P RNA, U1 small nuclear 94, pseudogene pseudogene pseudogene Approved 20q11.21 20q11.21 2013-05-15 2013-05-15 106481956 ENSG00000199497 NG_045362 HGNC:48436 +HGNC:48437 RNU1-95P RNA, U1 small nuclear 95, pseudogene pseudogene pseudogene Approved Yq11.222 Yq11.222 2013-05-15 2013-05-15 106481621 ENSG00000252166 NG_045904 HGNC:48437 +HGNC:48438 RNU1-96P RNA, U1 small nuclear 96, pseudogene pseudogene pseudogene Approved 3p24.1 03p24.1 2013-05-15 2013-05-15 106480181 ENSG00000201033 NG_043352 HGNC:48438 +HGNC:48439 RNU1-97P RNA, U1 small nuclear 97, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2013-05-15 2013-05-15 106480182 ENSG00000252681 NG_045417 HGNC:48439 +HGNC:48440 RNU1-98P RNA, U1 small nuclear 98, pseudogene pseudogene pseudogene Approved 21q21.1 21q21.1 2013-05-15 2013-05-15 106481622 ENSG00000239023 NG_044604 HGNC:48440 +HGNC:48442 RNU1-100P RNA, U1 small nuclear 100, pseudogene pseudogene pseudogene Approved 3q23 03q23 2013-05-15 2013-05-15 106480183 ENSG00000202125 NG_045420 HGNC:48442 +HGNC:48443 RNU1-101P RNA, U1 small nuclear 101, pseudogene pseudogene pseudogene Approved 8q13.3 08q13.3 2013-05-15 2013-05-15 106480667 ENSG00000212473 NG_043130 HGNC:48443 +HGNC:48445 RNU1-103P RNA, U1 small nuclear 103, pseudogene pseudogene pseudogene Approved 16q24.1 16q24.1 2013-05-15 2013-05-15 106481623 ENSG00000252311 NG_045909 HGNC:48445 +HGNC:48446 RNU1-104P RNA, U1 small nuclear 104, pseudogene pseudogene pseudogene Approved 12q24.32 12q24.32 2013-05-15 2013-05-15 106480184 ENSG00000253089 NG_043375 HGNC:48446 +HGNC:48447 RNU1-105P RNA, U1 small nuclear 105, pseudogene pseudogene pseudogene Approved 6p12.3 06p12.3 2013-05-15 2013-05-15 106480185 ENSG00000200340 NG_045429 HGNC:48447 +HGNC:48449 RNU1-107P RNA, U1 small nuclear 107, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2013-05-15 2013-05-15 106480186 ENSG00000252426 NG_043391 HGNC:48449 +HGNC:48450 RNU1-108P RNA, U1 small nuclear 108, pseudogene pseudogene pseudogene Approved 17q22 17q22 2013-05-15 2013-05-15 106481957 ENSG00000199426 NG_047169 HGNC:48450 +HGNC:48451 RNU1-109P RNA, U1 small nuclear 109, pseudogene pseudogene pseudogene Approved 18p11.32 18p11.32 2013-05-15 2013-05-15 106481625 ENSG00000206687 NG_045917 HGNC:48451 +HGNC:48454 RNU1-112P RNA, U1 small nuclear 112, pseudogene pseudogene pseudogene Approved Xq13.2 Xq13.2 2013-05-15 2013-05-15 106480187 ENSG00000201271 NG_043398 HGNC:48454 +HGNC:48456 RNU1-114P RNA, U1 small nuclear 114, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 2013-05-15 2019-07-26 106481626 ENSG00000202167 NG_045920 HGNC:48456 +HGNC:48457 RNU1-115P RNA, U1 small nuclear 115, pseudogene pseudogene pseudogene Approved Xq26.2 Xq26.2 2013-05-15 2013-05-15 106480188 ENSG00000202199 NG_043406 HGNC:48457 +HGNC:48458 RNU1-116P RNA, U1 small nuclear 116, pseudogene pseudogene pseudogene Approved 6p21.3 alternate reference locus 06p21.3 alternate reference locus 2013-05-15 2019-03-11 107521946 ENSG00000264259 NG_046843 +HGNC:48459 RNU1-117P RNA, U1 small nuclear 117, pseudogene pseudogene pseudogene Approved 12q21.32 12q21.32 2013-05-15 2013-05-15 106480189 ENSG00000252850 NG_043415 HGNC:48459 +HGNC:48461 RNU1-119P RNA, U1 small nuclear 119, pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 2013-05-15 2013-05-15 106480668 ENSG00000212424 NG_043138 HGNC:48461 +HGNC:48465 RNU1-123P RNA, U1 small nuclear 123, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 2013-05-15 2013-05-15 106481628 ENSG00000239194 NG_045929 HGNC:48465 +HGNC:48466 RNU1-124P RNA, U1 small nuclear 124, pseudogene pseudogene pseudogene Approved 8p11.21 08p11.21 2013-05-15 2013-05-15 106481629 ENSG00000200731 NG_045934 HGNC:48466 +HGNC:48467 RNU1-125P RNA, U1 small nuclear 125, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 2013-05-15 2013-05-15 106866915 ENSG00000252561 NG_046326 HGNC:48467 +HGNC:48470 RNU1-128P RNA, U1 small nuclear 128, pseudogene pseudogene pseudogene Approved Yq11.222 Yq11.222 2013-05-15 2013-05-15 106480191 ENSG00000252513 NG_045447 HGNC:48470 +HGNC:48471 RNU1-129P RNA, U1 small nuclear 129, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 RNU1-137P RNA, U1 small nuclear 137, pseudogene 2013-05-15 2019-07-26 106481630 ENSG00000206791 NG_044664 HGNC:48471 +HGNC:48472 RNU1-130P RNA, U1 small nuclear 130, pseudogene pseudogene pseudogene Approved 1p21.3 01p21.3 2013-05-15 2013-05-15 106480192 ENSG00000200800 NG_043440 HGNC:48472 +HGNC:48473 RNU1-131P RNA, U1 small nuclear 131, pseudogene pseudogene pseudogene Approved 20p12.1 20p12.1 2013-05-15 2013-05-15 106480193 ENSG00000238833 NG_043447 HGNC:48473 +HGNC:48474 RNU1-132P RNA, U1 small nuclear 132, pseudogene pseudogene pseudogene Approved 1q44 01q44 2013-05-15 2013-05-15 106481958 ENSG00000201170 NG_043225 HGNC:48474 +HGNC:48475 RNU1-133P RNA, U1 small nuclear 133, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-05-15 2013-05-15 106481631 ENSG00000201737 NG_045944 HGNC:48475 +HGNC:48476 RNU1-134P RNA, U1 small nuclear 134, pseudogene pseudogene pseudogene Approved 20q13.33 20q13.33 2013-05-15 2013-05-15 106480194 ENSG00000199805 NG_045455 HGNC:48476 +HGNC:48478 RNU1-136P RNA, U1 small nuclear 136, pseudogene pseudogene pseudogene Approved 6p12.1 06p12.1 2013-05-15 2013-05-15 106481632 ENSG00000206908 NG_044677 HGNC:48478 +HGNC:48480 RNU1-138P RNA, U1 small nuclear 138, pseudogene pseudogene pseudogene Approved 4q26 04q26 2013-05-15 2013-05-15 106480195 ENSG00000206820 NG_043463 HGNC:48480 +HGNC:48481 RNU1-139P RNA, U1 small nuclear 139, pseudogene pseudogene pseudogene Approved 21q21.1 21q21.1 2013-05-15 2013-05-15 106480196 ENSG00000212609 NG_043470 HGNC:48481 +HGNC:48482 RNU1-140P RNA, U1 small nuclear 140, pseudogene pseudogene pseudogene Approved 5q21.2 05q21.2 2013-05-15 2013-05-15 106480669 ENSG00000201910 NG_043146 HGNC:48482 +HGNC:48483 RNU1-141P RNA, U1 small nuclear 141, pseudogene pseudogene pseudogene Approved 1q41 01q41 2013-05-15 2013-05-15 106481633 ENSG00000201493 NG_044688 HGNC:48483 +HGNC:48484 RNU1-142P RNA, U1 small nuclear 142, pseudogene pseudogene pseudogene Approved Xp21.3 Xp21.3 2013-05-15 2013-05-15 106480197 ENSG00000252491 NG_043475 HGNC:48484 +HGNC:48485 RNU1-143P RNA, U1 small nuclear 143, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 2013-05-15 2019-07-26 106481634 ENSG00000252105 NG_044696 HGNC:48485 +HGNC:48488 RNU1-146P RNA, U1 small nuclear 146, pseudogene pseudogene pseudogene Approved 12p12.3 12p12.3 2013-05-15 2013-05-15 106480198 ENSG00000200885 NG_043482 HGNC:48488 +HGNC:48490 RNU1-148P RNA, U1 small nuclear 148, pseudogene pseudogene pseudogene Approved 8p21.2 08p21.2 2013-05-15 2013-05-15 106481635 ENSG00000207201 NG_044706 HGNC:48490 +HGNC:48491 RNU1-149P RNA, U1 small nuclear 149, pseudogene pseudogene pseudogene Approved 12p12.1 12p12.1 2013-05-15 2013-05-15 107048983 ENSG00000212172 NG_046347 HGNC:48491 +HGNC:48492 RNU1-150P RNA, U1 small nuclear 150, pseudogene pseudogene pseudogene Approved 5p13.1 05p13.1 2013-05-15 2013-05-15 106480413 ENSG00000199361 NG_043145 HGNC:48492 +HGNC:53616 RNU1-151P RNA, U1 small nuclear 151, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 2017-07-13 2019-07-26 110806291 ENSG00000201142 NG_065972 HGNC:53616 +HGNC:53625 RNU1-152P RNA, U1 small nuclear 152, pseudogene pseudogene pseudogene Approved 6p21.32 06p21.32 2017-08-02 2017-08-02 107521952 NG_046845 HGNC:53625 +HGNC:54435 RNU1-153P RNA, U1 small nuclear 153, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 2019-07-26 2019-07-26 115409985 ENSG00000277678 NG_066032 HGNC:54435 +HGNC:54436 RNU1-154P RNA, U1 small nuclear 154, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 2019-07-26 2019-07-26 115409990 ENSG00000270384 NG_066034 HGNC:54436 +HGNC:54437 RNU1-155P RNA, U1 small nuclear 155 pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 2019-07-26 2019-07-26 115409986 ENSG00000252135 NG_066033 HGNC:54437 +HGNC:10142 RNU2-1 RNA, U2 small nuclear 1 non-coding RNA RNA, small nuclear Approved 17q12 17q12 U2 "Small nuclear RNAs|U2 small nuclear ribonucleoprotein " "849|1501" 2001-06-22 2013-05-16 2013-05-16 2013-07-02 6066 ENSG00000274585 uc060fta.1 U57614 NR_002716 2411549 180690 HGNC:10142 +HGNC:10152 RNU2-2P RNA, U2 small nuclear 2, pseudogene pseudogene pseudogene Approved 11q12.3 11q12.3 U2 "RNU2B|RNU2-2" "RNA, U2B small nuclear|RNA, U2 small nuclear 2" 1999-12-14 2013-05-16 2013-05-16 2014-11-19 26855 ENSG00000222328 K02847 NR_002761 6238232 HGNC:10152 +HGNC:10153 RNU2-3P RNA, U2 small nuclear 3, pseudogene pseudogene pseudogene Approved 15q26.2 15q26.2 U2 RNU2P1 RNA, U2 small nuclear pseudogene 1 1999-12-14 2009-11-06 2011-04-15 2014-11-19 26854 ENSG00000222076 uc059npg.1 K03024 NG_001258 6209403 HGNC:10153 +HGNC:10154 RNU2-4P RNA, U2 small nuclear 4, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 "U2|U2/7" RNU2P2 RNA, U2 small nuclear pseudogene 2 1999-12-14 2009-11-06 2011-04-15 2015-01-30 26853 ENSG00000277084 uc060ftp.1 K02228 NG_001257 6201719 HGNC:10154 +HGNC:10155 RNU2-5P RNA, U2 small nuclear 5, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 "U2|u2.7" RNU2P3 RNA, U2 small nuclear pseudogene 3 1999-12-14 2009-11-06 2011-04-15 2014-11-19 26852 ENSG00000222465 uc064tqx.1 K00779 NG_052797 6165010 HGNC:10155 +HGNC:42506 RNU2-6P RNA, U2 small nuclear 6, pseudogene pseudogene pseudogene Approved 13q14.13 13q14.13 2011-08-02 2014-11-19 100873825 ENSG00000223336 uc032aej.2 NG_032605 HGNC:42506 +HGNC:42505 RNU2-7P RNA, U2 small nuclear 7, pseudogene pseudogene pseudogene Approved 13q12.11 13q12.11 2011-08-02 2014-11-19 100873824 ENSG00000222726 uc031zyb.2 NG_032604 HGNC:42505 +HGNC:48501 RNU2-8P RNA, U2 small nuclear 8, pseudogene pseudogene pseudogene Approved 6q22.31 06q22.31 2013-05-16 2013-05-16 106480200 ENSG00000222659 NG_043497 HGNC:48501 +HGNC:48502 RNU2-9P RNA, U2 small nuclear 9, pseudogene pseudogene pseudogene Approved 2q23.1 02q23.1 2013-05-16 2013-05-16 106481636 ENSG00000222126 NG_045190 HGNC:48502 +HGNC:48503 RNU2-10P RNA, U2 small nuclear 10, pseudogene pseudogene pseudogene Approved 3p14.2 03p14.2 2013-05-16 2013-05-16 106480201 ENSG00000252184 NG_043506 HGNC:48503 +HGNC:48504 RNU2-11P RNA, U2 small nuclear 11, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-05-16 2013-05-16 106481637 ENSG00000239122 NG_044723 HGNC:48504 +HGNC:48505 RNU2-12P RNA, U2 small nuclear 12, pseudogene pseudogene pseudogene Approved 1q25.2 01q25.2 2013-05-16 2013-05-16 106480202 ENSG00000253025 NG_043515 HGNC:48505 +HGNC:48506 RNU2-13P RNA, U2 small nuclear 13, pseudogene pseudogene pseudogene Approved 2p25.1 02p25.1 2013-05-16 2013-05-16 106480203 ENSG00000251718 NG_029429 HGNC:48506 +HGNC:48507 RNU2-14P RNA, U2 small nuclear 14, pseudogene pseudogene pseudogene Approved 14q23.3 14q23.3 2013-05-16 2013-05-16 106481638 ENSG00000222985 NG_044733 HGNC:48507 +HGNC:48508 RNU2-15P RNA, U2 small nuclear 15, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-05-16 2013-05-16 106866980 ENSG00000222624 NG_033843 HGNC:48508 +HGNC:48509 RNU2-16P RNA, U2 small nuclear 16, pseudogene pseudogene pseudogene Approved 4q21.1 04q21.1 2013-05-16 2013-05-16 106481639 ENSG00000222644 NG_044741 HGNC:48509 +HGNC:48510 RNU2-17P RNA, U2 small nuclear 17, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 2013-05-16 2013-05-16 106480204 ENSG00000222222 NG_043532 HGNC:48510 +HGNC:48511 RNU2-18P RNA, U2 small nuclear 18, pseudogene pseudogene pseudogene Approved 10p13 10p13 2013-05-16 2013-05-16 106480205 ENSG00000223156 NG_045487 HGNC:48511 +HGNC:48512 RNU2-19P RNA, U2 small nuclear 19, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 2013-05-16 2013-05-16 106481959 ENSG00000253097 NG_043237 HGNC:48512 +HGNC:48513 RNU2-20P RNA, U2 small nuclear 20, pseudogene pseudogene pseudogene Approved 3q26.2 03q26.2 2013-05-16 2013-05-16 106481640 ENSG00000222357 NG_045968 HGNC:48513 +HGNC:48514 RNU2-21P RNA, U2 small nuclear 21, pseudogene pseudogene pseudogene Approved 2q24.1 02q24.1 2013-05-16 2013-05-16 106480206 ENSG00000222300 NG_043549 HGNC:48514 +HGNC:48515 RNU2-22P RNA, U2 small nuclear 22, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2013-05-16 2013-05-16 106660611 ENSG00000223198 NG_042900 HGNC:48515 +HGNC:48516 RNU2-23P RNA, U2 small nuclear 23, pseudogene pseudogene pseudogene Approved 11q13.1 11q13.1 2013-05-16 2013-05-16 106481641 ENSG00000222477 NG_044758 HGNC:48516 +HGNC:48517 RNU2-24P RNA, U2 small nuclear 24, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 2013-05-16 2013-05-16 106480207 ENSG00000252639 NG_043557 HGNC:48517 +HGNC:48518 RNU2-25P RNA, U2 small nuclear 25, pseudogene pseudogene pseudogene Approved 9p24.3 09p24.3 2013-05-16 2013-05-16 106480208 ENSG00000222973 NG_032162 HGNC:48518 +HGNC:48519 RNU2-26P RNA, U2 small nuclear 26, pseudogene pseudogene pseudogene Approved Xq21.31 Xq21.31 2013-05-16 2013-05-16 106480414 ENSG00000222440 NG_045339 HGNC:48519 +HGNC:48520 RNU2-27P RNA, U2 small nuclear 27, pseudogene pseudogene pseudogene Approved 18p11.22 18p11.22 2013-05-16 2013-05-16 106481642 ENSG00000251994 NG_044766 HGNC:48520 +HGNC:48521 RNU2-28P RNA, U2 small nuclear 28, pseudogene pseudogene pseudogene Approved 3p12.2 03p12.2 2013-05-16 2013-05-16 106480670 ENSG00000222389 NG_043153 HGNC:48521 +HGNC:48522 RNU2-29P RNA, U2 small nuclear 29, pseudogene pseudogene pseudogene Approved 7p12.1 07p12.1 2013-05-16 2013-05-16 106480209 ENSG00000222355 NG_043575 HGNC:48522 +HGNC:48523 RNU2-30P RNA, U2 small nuclear 30, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2013-05-16 2013-05-16 106481643 ENSG00000252018 NG_045976 HGNC:48523 +HGNC:48524 RNU2-31P RNA, U2 small nuclear 31, pseudogene pseudogene pseudogene Approved 3q25.33 03q25.33 2013-05-16 2013-05-16 106480210 ENSG00000252763 NG_043583 HGNC:48524 +HGNC:48525 RNU2-32P RNA, U2 small nuclear 32, pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 2013-05-16 2013-05-16 106481644 ENSG00000223125 NG_044781 HGNC:48525 +HGNC:48526 RNU2-33P RNA, U2 small nuclear 33, pseudogene pseudogene pseudogene Approved 14q32.2 14q32.2 2013-05-16 2013-05-16 106480211 ENSG00000222276 NG_045500 HGNC:48526 +HGNC:48527 RNU2-34P RNA, U2 small nuclear 34, pseudogene pseudogene pseudogene Approved 4q35.1 04q35.1 2013-05-16 2013-05-16 106481960 ENSG00000252343 NG_042859 HGNC:48527 +HGNC:48528 RNU2-35P RNA, U2 small nuclear 35, pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 2013-05-16 2013-05-16 106480212 ENSG00000252255 NG_045504 HGNC:48528 +HGNC:48529 RNU2-36P RNA, U2 small nuclear 36, pseudogene pseudogene pseudogene Approved 9q21.33 09q21.33 2013-05-16 2013-05-16 106481645 ENSG00000222293 NG_044792 HGNC:48529 +HGNC:48530 RNU2-37P RNA, U2 small nuclear 37, pseudogene pseudogene pseudogene Approved 3q21.3 03q21.3 2013-05-16 2013-05-16 106480213 ENSG00000222627 NG_043607 HGNC:48530 +HGNC:48531 RNU2-38P RNA, U2 small nuclear 38, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 2013-05-16 2013-05-16 106481646 ENSG00000222788 NG_044799 HGNC:48531 +HGNC:48532 RNU2-39P RNA, U2 small nuclear 39, pseudogene pseudogene pseudogene Approved 2p13.2 02p13.2 2013-05-16 2013-05-16 106480214 ENSG00000222536 NG_045075 HGNC:48532 +HGNC:48533 RNU2-40P RNA, U2 small nuclear 40, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 2013-05-16 2013-05-16 106480671 ENSG00000222765 NG_043161 HGNC:48533 +HGNC:48534 RNU2-41P RNA, U2 small nuclear 41, pseudogene pseudogene pseudogene Approved 2q14.1 02q14.1 2013-05-16 2013-05-16 106480215 ENSG00000222923 NG_045076 HGNC:48534 +HGNC:48535 RNU2-42P RNA, U2 small nuclear 42, pseudogene pseudogene pseudogene Approved 10q26.2 10q26.2 2013-05-16 2013-05-16 106481647 ENSG00000222629 NG_044807 HGNC:48535 +HGNC:48536 RNU2-43P RNA, U2 small nuclear 43, pseudogene pseudogene pseudogene Approved 10q24.32 10q24.32 2013-05-16 2013-05-16 106480216 ENSG00000222238 NG_043628 HGNC:48536 +HGNC:48537 RNU2-44P RNA, U2 small nuclear 44, pseudogene pseudogene pseudogene Approved 4q32.1 04q32.1 2013-05-16 2013-05-16 106481648 ENSG00000252604 NG_045993 HGNC:48537 +HGNC:48538 RNU2-45P RNA, U2 small nuclear 45, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 2013-05-16 2013-05-16 106480217 ENSG00000251877 NG_043637 HGNC:48538 +HGNC:48539 RNU2-46P RNA, U2 small nuclear 46, pseudogene pseudogene pseudogene Approved 9q22.32 09q22.32 2013-05-16 2013-05-16 106480218 ENSG00000252847 NG_043642 HGNC:48539 +HGNC:48540 RNU2-47P RNA, U2 small nuclear 47, pseudogene pseudogene pseudogene Approved 9p23 09p23 2013-05-16 2013-05-16 106480672 ENSG00000222581 NG_043169 HGNC:48540 +HGNC:48541 RNU2-48P RNA, U2 small nuclear 48, pseudogene pseudogene pseudogene Approved 5q33.3 05q33.3 2013-05-16 2013-05-16 106481649 ENSG00000222626 NG_044824 HGNC:48541 +HGNC:48542 RNU2-49P RNA, U2 small nuclear 49, pseudogene pseudogene pseudogene Approved 5q22.3 05q22.3 2013-05-16 2013-05-16 106480219 ENSG00000222598 NG_043651 HGNC:48542 +HGNC:48543 RNU2-50P RNA, U2 small nuclear 50, pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 2013-05-16 2013-05-16 106481650 ENSG00000222426 NG_053094 HGNC:48543 +HGNC:48544 RNU2-51P RNA, U2 small nuclear 51, pseudogene pseudogene pseudogene Approved 14q24.2 14q24.2 2013-05-16 2013-05-16 106480415 ENSG00000222640 NG_043160 HGNC:48544 +HGNC:48545 RNU2-52P RNA, U2 small nuclear 52, pseudogene pseudogene pseudogene Approved 20q12 20q12 2013-05-16 2013-05-16 107080629 ENSG00000222612 NG_046391 HGNC:48545 +HGNC:48546 RNU2-53P RNA, U2 small nuclear 53, pseudogene pseudogene pseudogene Approved 15q21.3 15q21.3 2013-05-16 2013-05-16 106480220 ENSG00000252066 NG_017034 HGNC:48546 +HGNC:48547 RNU2-54P RNA, U2 small nuclear 54, pseudogene pseudogene pseudogene Approved 8q21.11 08q21.11 2013-05-16 2013-05-16 106481651 ENSG00000222231 NG_044841 HGNC:48547 +HGNC:48548 RNU2-55P RNA, U2 small nuclear 55, pseudogene pseudogene pseudogene Approved 21q21.2 21q21.2 2013-05-16 2013-05-16 106481961 ENSG00000223078 NG_043256 HGNC:48548 +HGNC:48549 RNU2-56P RNA, U2 small nuclear 56, pseudogene pseudogene pseudogene Approved 20p11.23 20p11.23 2013-05-16 2013-05-16 106480221 ENSG00000252635 NG_043665 HGNC:48549 +HGNC:48550 RNU2-57P RNA, U2 small nuclear 57, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2013-05-16 2013-05-16 106480222 ENSG00000252468 NG_011652 HGNC:48550 +HGNC:48551 RNU2-58P RNA, U2 small nuclear 58, pseudogene pseudogene pseudogene Approved 17q22 17q22 2013-05-16 2013-05-16 106481652 ENSG00000252212 NG_046008 HGNC:48551 +HGNC:48552 RNU2-59P RNA, U2 small nuclear 59, pseudogene pseudogene pseudogene Approved 10q24.32 10q24.32 2013-05-16 2013-05-16 106480223 ENSG00000222414 NG_043678 HGNC:48552 +HGNC:48553 RNU2-60P RNA, U2 small nuclear 60, pseudogene pseudogene pseudogene Approved 11q23.1 11q23.1 2013-05-16 2013-05-16 106481653 ENSG00000253099 NG_044859 HGNC:48553 +HGNC:48554 RNU2-61P RNA, U2 small nuclear 61, pseudogene pseudogene pseudogene Approved 6q15 06q15 2013-05-16 2013-05-16 106480673 ENSG00000223001 NG_043177 HGNC:48554 +HGNC:48555 RNU2-62P RNA, U2 small nuclear 62, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 2013-05-16 2013-05-16 106480224 ENSG00000222800 NG_043688 HGNC:48555 +HGNC:48556 RNU2-63P RNA, U2 small nuclear 63, pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 2013-05-16 2013-05-16 106480225 ENSG00000222724 NG_045085 HGNC:48556 +HGNC:48557 RNU2-64P RNA, U2 small nuclear 64, pseudogene pseudogene pseudogene Approved 3p13 03p13 2013-05-16 2013-05-16 106481654 ENSG00000223247 NG_044868 HGNC:48557 +HGNC:48558 RNU2-65P RNA, U2 small nuclear 65, pseudogene pseudogene pseudogene Approved 15q23 15q23 2013-05-16 2013-05-16 106480226 ENSG00000222094 NG_043702 HGNC:48558 +HGNC:48559 RNU2-66P RNA, U2 small nuclear 66, pseudogene pseudogene pseudogene Approved 4q32.1 04q32.1 2013-05-16 2013-05-16 106481655 ENSG00000222582 NG_046020 HGNC:48559 +HGNC:48561 RNU2-68P RNA, U2 small nuclear 68, pseudogene pseudogene pseudogene Approved Xq13.1 Xq13.1 2013-05-16 2013-05-16 106481962 ENSG00000222810 NG_015851 HGNC:48561 +HGNC:48562 RNU2-69P RNA, U2 small nuclear 69, pseudogene pseudogene pseudogene Approved 18q21.32 18q21.32 2013-05-16 2013-05-16 106481656 ENSG00000251870 NG_044881 HGNC:48562 +HGNC:48563 RNU2-70P RNA, U2 small nuclear 70, pseudogene pseudogene pseudogene Approved 1q42.3 01q42.3 2013-05-16 2013-05-16 106480227 ENSG00000222650 NG_045549 HGNC:48563 +HGNC:48564 RNU2-71P RNA, U2 small nuclear 71, pseudogene pseudogene pseudogene Approved 8q21.13 08q21.13 2013-05-16 2013-05-16 106480228 ENSG00000223327 NG_043716 HGNC:48564 +HGNC:48565 RNU2-72P RNA, U2 small nuclear 72, pseudogene pseudogene pseudogene Approved 10q21.2 10q21.2 2013-05-16 2013-05-16 106480702 ENSG00000223107 NG_045444 HGNC:48565 +HGNC:10192 RNU4-1 RNA, U4 small nuclear 1 non-coding RNA RNA, small nuclear Approved 12q24.31 12q24.31 "U4BL|U4" "RNU4B2|RNU4A" "RNA, U4B2 small nuclear|RNA, U4A small nuclear" "Small nuclear RNAs|U4/U6 small nuclear ribonucleoprotein " "849|1502" 1999-12-14 2008-05-01 2008-05-01 2014-11-19 26835 ENSG00000200795 uc031zpc.2 M15956 NR_003925 3582982 HGNC:10192 +HGNC:10193 RNU4-2 RNA, U4 small nuclear 2 non-coding RNA RNA, small nuclear Approved 12q24.31 12q24.31 "U4c|U4b|U4A" "RNU4C|RNU4-1B|RNU4B1" "RNA, U4C small nuclear|RNA, U4 small nuclear 1B|RNA, U4B1 small nuclear" Small nuclear RNAs 849 1999-12-14 2008-05-01 2008-05-01 2014-11-18 26834 ENSG00000202538 uc031zpb.1 M15957 NR_003137 3582982 HGNC:10193 +HGNC:10196 RNU4-3P RNA, U4 small nuclear 3, pseudogene pseudogene pseudogene Approved 18q12.2 18q12.2 "U4|U4/4" RNU4P3 RNA, U4 small nuclear pseudogene 3 1999-12-14 2009-11-06 2011-04-15 2014-11-18 26841 X02651 NG_001252 2582241 HGNC:10196 +HGNC:10197 RNU4-4P RNA, U4 small nuclear 4, pseudogene pseudogene pseudogene Approved 3q26.31 03q26.31 "U4|U4/5" RNU4P4 RNA, U4 small nuclear pseudogene 4 1999-12-14 2009-11-06 2011-04-15 2014-11-18 26840 ENSG00000201458 uc062qaj.1 X02652 NG_001251 2582241 HGNC:10197 +HGNC:10198 RNU4-5P RNA, U4 small nuclear 5, pseudogene pseudogene pseudogene Approved 10q25.1 10q25.1 "U4|U4/6" RNU4P5 RNA, U4 small nuclear pseudogene 5 1999-12-14 2009-11-06 2011-04-15 2015-02-04 26839 ENSG00000272160 uc057vwo.1 X02653 NG_001250 2582241 HGNC:10198 +HGNC:10199 RNU4-6P RNA, U4 small nuclear 6, pseudogene pseudogene pseudogene Approved Xp22.22 Xp22.22 "U4|U4/8" RNU4P6 RNA, U4 small nuclear pseudogene 6 1999-12-14 2009-11-06 2011-04-15 2014-11-19 26838 ENSG00000222736 uc022btj.1 X02654 NG_001249 2582241 HGNC:10199 +HGNC:10194 RNU4-7P RNA, U4 small nuclear 7, pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 "U4|U4/7" RNU4P1 RNA, U4 small nuclear pseudogene 1 (U4/7) 1990-06-11 2009-11-06 2011-04-15 2014-11-19 6069 ENSG00000201628 uc063sfz.1 M24746 NG_001186 2583518 HGNC:10194 +HGNC:10195 RNU4-8P RNA, U4 small nuclear 8, pseudogene pseudogene pseudogene Approved 2q11.2 02q11.2 "U4|U4/14" RNU4P2 RNA, U4 small nuclear pseudogene 2 (U4/14) 1990-06-11 2009-11-06 2011-04-15 2014-11-19 6070 ENSG00000201806 uc061maj.1 M24745 NG_001187 2583518 HGNC:10195 +HGNC:42507 RNU4-9P RNA, U4 small nuclear 9, pseudogene pseudogene pseudogene Approved 13q12.11 13q12.11 2011-08-02 2014-11-19 100862675 ENSG00000201821 uc058vut.1 NG_032105 HGNC:42507 +HGNC:42508 RNU4-10P RNA, U4 small nuclear 10, pseudogene pseudogene pseudogene Approved 13q22.1 13q22.1 2011-08-02 2014-11-19 100862676 ENSG00000201253 uc058xlg.1 NG_032106 HGNC:42508 +HGNC:46947 RNU4-11P RNA, U4 small nuclear 11, pseudogene pseudogene pseudogene Approved 5q14.3 05q14.3 2013-04-03 2013-04-03 106481175 ENSG00000202157 uc063fcj.1 NG_043097 HGNC:46947 +HGNC:46948 RNU4-12P RNA, U4 small nuclear 12, pseudogene pseudogene pseudogene Approved 6q14.3 06q14.3 2013-04-03 2013-04-03 106479564 ENSG00000202103 uc063pyf.1 NG_044518 HGNC:46948 +HGNC:46949 RNU4-13P RNA, U4 small nuclear 13, pseudogene pseudogene pseudogene Approved 17q23.1 17q23.1 2013-04-03 2013-04-03 106481763 ENSG00000200889 uc060icp.1 NG_043711 HGNC:46949 +HGNC:46950 RNU4-14P RNA, U4 small nuclear 14, pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 2013-04-03 2013-04-03 106481176 ENSG00000222790 uc063hun.1 NG_043106 HGNC:46950 +HGNC:46951 RNU4-15P RNA, U4 small nuclear 15, pseudogene pseudogene pseudogene Approved 9q21.32 09q21.32 2013-04-03 2013-04-03 106479565 ENSG00000199483 uc064tyx.1 NG_044527 HGNC:46951 +HGNC:46952 RNU4-16P RNA, U4 small nuclear 16, pseudogene pseudogene pseudogene Approved 7q21.3 07q21.3 2013-04-03 2013-04-03 106479566 ENSG00000201607 uc064fmi.1 NG_015803 HGNC:46952 +HGNC:46953 RNU4-17P RNA, U4 small nuclear 17, pseudogene pseudogene pseudogene Approved 18q21.32 18q21.32 2013-04-03 2013-04-03 106481177 ENSG00000202468 uc060pry.1 NG_045319 HGNC:46953 +HGNC:46954 RNU4-18P RNA, U4 small nuclear 18, pseudogene pseudogene pseudogene Approved 6q23.2 06q23.2 2013-04-03 2013-04-03 106480545 ENSG00000252560 uc063rkc.1 NG_044175 HGNC:46954 +HGNC:46956 RNU4-20P RNA, U4 small nuclear 20, pseudogene pseudogene pseudogene Approved 12q14.1 12q14.1 2013-04-03 2013-04-03 106479567 ENSG00000202471 uc058qff.1 NG_044540 HGNC:46956 +HGNC:46957 RNU4-21P RNA, U4 small nuclear 21, pseudogene pseudogene pseudogene Approved 1q42.13 01q42.13 2013-04-03 2013-04-03 106481178 ENSG00000199672 uc057qgh.1 NG_045324 HGNC:46957 +HGNC:46958 RNU4-22P RNA, U4 small nuclear 22, pseudogene pseudogene pseudogene Approved 14q31.3 14q31.3 2013-04-03 2013-04-03 107057646 ENSG00000222990 uc059ecg.1 NG_046949 HGNC:46958 +HGNC:46959 RNU4-23P RNA, U4 small nuclear 23, pseudogene pseudogene pseudogene Approved 11q24.1 11q24.1 2013-04-03 2013-04-03 106479568 ENSG00000199709 uc058ioo.1 NG_045889 HGNC:46959 +HGNC:46960 RNU4-24P RNA, U4 small nuclear 24, pseudogene pseudogene pseudogene Approved 12q23.1 12q23.1 2013-04-03 2013-04-03 106481179 ENSG00000201435 uc021rca.1 NG_045327 HGNC:46960 +HGNC:46961 RNU4-25P RNA, U4 small nuclear 25, pseudogene pseudogene pseudogene Approved 8q24.21 08q24.21 2013-04-03 2014-06-20 106481870 ENSG00000222501 uc022bbi.1 NG_044538 HGNC:46961 +HGNC:46962 RNU4-26P RNA, U4 small nuclear 26, pseudogene pseudogene pseudogene Approved 9p21.3 09p21.3 2013-04-03 2013-04-03 106479569 ENSG00000222202 uc022bdz.1 NG_044556 HGNC:46962 +HGNC:46963 RNU4-27P RNA, U4 small nuclear 27, pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 2013-04-03 2013-04-03 106481180 ENSG00000222821 uc057eut.1 NG_043140 HGNC:46963 +HGNC:46964 RNU4-28P RNA, U4 small nuclear 28, pseudogene pseudogene pseudogene Approved 1p36.13 01p36.13 2013-04-03 2013-04-03 106479570 ENSG00000201609 uc057cwy.1 NG_044562 HGNC:46964 +HGNC:46965 RNU4-29P RNA, U4 small nuclear 29, pseudogene pseudogene pseudogene Approved 9q21.32 09q21.32 2013-04-03 2013-04-03 106481181 ENSG00000251752 uc064tyu.1 NG_043148 HGNC:46965 +HGNC:46966 RNU4-30P RNA, U4 small nuclear 30, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 2013-04-03 2013-04-03 106479571 ENSG00000222177 uc021tke.1 NG_044572 HGNC:46966 +HGNC:46967 RNU4-31P RNA, U4 small nuclear 31, pseudogene pseudogene pseudogene Approved 7q36.3 07q36.3 2013-04-03 2013-04-03 106480546 ENSG00000206938 uc064jqz.1 NG_009240 HGNC:46967 +HGNC:46968 RNU4-32P RNA, U4 small nuclear 32, pseudogene pseudogene pseudogene Approved 12q24.11 12q24.11 2013-04-03 2013-04-03 106479572 ENSG00000200274 uc058szq.1 NG_007096 HGNC:46968 +HGNC:46969 RNU4-33P RNA, U4 small nuclear 33, pseudogene pseudogene pseudogene Approved 4q26 04q26 2013-04-03 2013-04-03 107080655 ENSG00000201186 uc062zgl.1 NG_046568 HGNC:46969 +HGNC:46970 RNU4-34P RNA, U4 small nuclear 34, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-04-03 2013-04-03 106480385 ENSG00000222363 uc060div.1 NG_042911 HGNC:46970 +HGNC:46971 RNU4-35P RNA, U4 small nuclear 35, pseudogene pseudogene pseudogene Approved 6q22.31 06q22.31 2013-04-03 2013-04-03 106481182 ENSG00000199458 uc063raq.1 NG_043154 HGNC:46971 +HGNC:46972 RNU4-36P RNA, U4 small nuclear 36, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 2013-04-03 2013-04-03 106479573 ENSG00000201164 uc059wgw.1 NG_044590 HGNC:46972 +HGNC:46973 RNU4-37P RNA, U4 small nuclear 37, pseudogene pseudogene pseudogene Approved 8q23.3 08q23.3 2013-04-03 2013-04-03 106481183 ENSG00000222146 uc064ppv.1 NG_043162 HGNC:46973 +HGNC:46974 RNU4-38P RNA, U4 small nuclear 38, pseudogene pseudogene pseudogene Approved 3q26.2 03q26.2 2013-04-03 2013-04-03 106479574 ENSG00000201342 uc062pvy.1 NG_045906 HGNC:46974 +HGNC:46975 RNU4-39P RNA, U4 small nuclear 39, pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 2013-04-03 2013-04-03 106479575 ENSG00000199325 uc058dzn.1 NG_030394 HGNC:46975 +HGNC:46976 RNU4-40P RNA, U4 small nuclear 40, pseudogene pseudogene pseudogene Approved 20q11.23 20q11.23 2013-04-03 2013-04-03 106479576 ENSG00000201221 uc061wrv.1 NG_045911 HGNC:46976 +HGNC:46977 RNU4-41P RNA, U4 small nuclear 41, pseudogene pseudogene pseudogene Approved 12q23.1 12q23.1 2013-04-03 2013-04-03 106481184 ENSG00000201296 uc058sbz.1 NG_043170 HGNC:46977 +HGNC:46978 RNU4-42P RNA, U4 small nuclear 42, pseudogene pseudogene pseudogene Approved 1q23.2 01q23.2 2013-04-03 2013-04-03 106479577 ENSG00000201608 uc057mku.1 NG_044625 HGNC:46978 +HGNC:46979 RNU4-43P RNA, U4 small nuclear 43, pseudogene pseudogene pseudogene Approved 5p14.1 05p14.1 2013-04-03 2013-04-03 106481185 ENSG00000222560 uc063cpy.1 NG_043178 HGNC:46979 +HGNC:46980 RNU4-44P RNA, U4 small nuclear 44, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 2013-04-03 2013-04-03 106479578 ENSG00000199920 uc065ben.1 NG_044632 HGNC:46980 +HGNC:46981 RNU4-45P RNA, U4 small nuclear 45, pseudogene pseudogene pseudogene Approved 21q21.1 21q21.1 2013-04-03 2013-04-03 106481186 ENSG00000202339 uc061zfv.1 NG_043186 HGNC:46981 +HGNC:46982 RNU4-46P RNA, U4 small nuclear 46, pseudogene pseudogene pseudogene Approved 16p12.3 16p12.3 2013-04-03 2013-04-03 107048985 ENSG00000222750 uc059rmt.1 NG_046349 HGNC:46982 +HGNC:46983 RNU4-47P RNA, U4 small nuclear 47, pseudogene pseudogene pseudogene Approved 17q25.2 17q25.2 2013-04-03 2013-04-03 106479579 ENSG00000222808 uc060kou.1 NG_044640 HGNC:46983 +HGNC:46984 RNU4-48P RNA, U4 small nuclear 48, pseudogene pseudogene pseudogene Approved 2q14.3 02q14.3 2013-04-03 2013-04-03 106479580 ENSG00000202429 uc061npu.1 NG_044646 HGNC:46984 +HGNC:46985 RNU4-49P RNA, U4 small nuclear 49, pseudogene pseudogene pseudogene Approved 2p16.3 02p16.3 2013-04-03 2013-04-03 106481187 ENSG00000251889 uc061izv.1 NG_045029 HGNC:46985 +HGNC:46986 RNU4-50P RNA, U4 small nuclear 50, pseudogene pseudogene pseudogene Approved 8q12.1 08q12.1 2013-04-03 2013-04-03 106481871 ENSG00000201231 uc064ncb.1 NG_045888 HGNC:46986 +HGNC:46987 RNU4-51P RNA, U4 small nuclear 51, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 2013-04-03 2013-04-03 106479581 ENSG00000201076 uc061jlm.1 NG_045932 HGNC:46987 +HGNC:46988 RNU4-52P RNA, U4 small nuclear 52, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 2013-04-03 2013-04-03 106481188 ENSG00000206936 uc064zem.1 NG_033004 HGNC:46988 +HGNC:46989 RNU4-53P RNA, U4 small nuclear 53, pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 2013-04-03 2013-04-03 106479582 ENSG00000222760 uc064taq.1 NG_008246 HGNC:46989 +HGNC:46990 RNU4-54P RNA, U4 small nuclear 54, pseudogene pseudogene pseudogene Approved 12p11.22 12p11.22 2013-04-03 2013-04-03 106479583 ENSG00000252237 uc058mhn.1 NG_044667 HGNC:46990 +HGNC:46991 RNU4-55P RNA, U4 small nuclear 55, pseudogene pseudogene pseudogene Approved 11q22.3 11q22.3 2013-04-03 2013-04-03 106481189 ENSG00000222663 uc058gyw.1 NG_045366 HGNC:46991 +HGNC:46992 RNU4-56P RNA, U4 small nuclear 56, pseudogene pseudogene pseudogene Approved 3p22.1 03p22.1 2013-04-03 2013-04-03 106480547 ENSG00000201570 uc062ikr.1 NG_045752 HGNC:46992 +HGNC:46993 RNU4-57P RNA, U4 small nuclear 57, pseudogene pseudogene pseudogene Approved 1q41 01q41 2013-04-03 2013-04-03 106479584 ENSG00000251789 uc057psb.1 NG_044672 HGNC:46993 +HGNC:46994 RNU4-58P RNA, U4 small nuclear 58, pseudogene pseudogene pseudogene Approved 16q21 16q21 2013-04-03 2013-04-03 106481190 ENSG00000200062 uc059vev.1 NG_043222 HGNC:46994 +HGNC:46995 RNU4-59P RNA, U4 small nuclear 59, pseudogene pseudogene pseudogene Approved 1p22.1 01p22.1 2013-04-03 2013-04-03 106481764 ENSG00000201317 uc057ihx.1 NG_045551 HGNC:46995 +HGNC:46996 RNU4-60P RNA, U4 small nuclear 60, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 2013-04-03 2013-04-03 106479585 ENSG00000253048 uc060zhu.1 NG_044681 HGNC:46996 +HGNC:46997 RNU4-61P RNA, U4 small nuclear 61, pseudogene pseudogene pseudogene Approved 1p33 01p33 2013-04-03 2013-04-03 106481191 ENSG00000223175 uc057gje.1 NG_043234 HGNC:46997 +HGNC:46998 RNU4-62P RNA, U4 small nuclear 62, pseudogene pseudogene pseudogene Approved 3q13.33 03q13.33 2013-04-03 2013-04-03 106479586 ENSG00000222057 uc062myl.1 NG_045952 HGNC:46998 +HGNC:46999 RNU4-63P RNA, U4 small nuclear 63, pseudogene pseudogene pseudogene Approved 2p21 02p21 2013-04-03 2013-04-03 106479587 ENSG00000223245 uc021vgj.1 NG_044700 HGNC:46999 +HGNC:47000 RNU4-64P RNA, U4 small nuclear 64, pseudogene pseudogene pseudogene Approved 4q35.1 04q35.1 2013-04-03 2013-04-03 106481872 ENSG00000222727 uc063bnk.1 NG_044553 HGNC:47000 +HGNC:47001 RNU4-65P RNA, U4 small nuclear 65, pseudogene pseudogene pseudogene Approved 12q15 12q15 2013-04-03 2013-04-03 106481192 ENSG00000222405 uc058qxh.1 NG_043243 HGNC:47001 +HGNC:47002 RNU4-66P RNA, U4 small nuclear 66, pseudogene pseudogene pseudogene Approved 6q13 06q13 2013-04-03 2013-04-03 106479588 ENSG00000202069 uc063pmr.1 NG_044710 HGNC:47002 +HGNC:47003 RNU4-67P RNA, U4 small nuclear 67, pseudogene pseudogene pseudogene Approved 12p12.1 12p12.1 2013-04-03 2013-04-03 106481193 ENSG00000201439 uc058mba.1 NG_043254 HGNC:47003 +HGNC:47004 RNU4-68P RNA, U4 small nuclear 68, pseudogene pseudogene pseudogene Approved 14q32.33 14q32.33 2013-04-03 2013-04-03 106479589 ENSG00000201184 uc059fsd.1 NG_045958 HGNC:47004 +HGNC:47005 RNU4-69P RNA, U4 small nuclear 69, pseudogene pseudogene pseudogene Approved 5q23.1 05q23.1 2013-04-03 2013-04-03 106479590 ENSG00000222609 uc063gio.1 NG_044727 HGNC:47005 +HGNC:47006 RNU4-70P RNA, U4 small nuclear 70, pseudogene pseudogene pseudogene Approved 6q16.1 06q16.1 2013-04-03 2013-04-03 106480548 ENSG00000207309 uc063qdz.1 NG_044196 HGNC:47006 +HGNC:47007 RNU4-71P RNA, U4 small nuclear 71, pseudogene pseudogene pseudogene Approved 8p21.2 08p21.2 2013-04-03 2013-04-03 106481194 ENSG00000252067 uc064lfv.1 NG_043263 HGNC:47007 +HGNC:47008 RNU4-72P RNA, U4 small nuclear 72, pseudogene pseudogene pseudogene Approved 6q14.3 06q14.3 2013-04-03 2013-04-03 106479591 ENSG00000222686 uc063pyd.1 NG_045191 HGNC:47008 +HGNC:47009 RNU4-73P RNA, U4 small nuclear 73, pseudogene pseudogene pseudogene Approved 2p25.1 02p25.1 2013-04-03 2013-04-03 106481195 ENSG00000200034 uc061goq.1 NG_045033 HGNC:47009 +HGNC:47010 RNU4-74P RNA, U4 small nuclear 74, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-04-03 2013-04-03 106479592 ENSG00000223212 uc064iqd.1 NG_045966 HGNC:47010 +HGNC:47011 RNU4-75P RNA, U4 small nuclear 75, pseudogene pseudogene pseudogene Approved 1p21.2 01p21.2 2013-04-03 2013-04-03 106479593 ENSG00000201491 uc057ipq.1 NG_044752 HGNC:47011 +HGNC:47012 RNU4-76P RNA, U4 small nuclear 76, pseudogene pseudogene pseudogene Approved 6q22.31 06q22.31 2013-04-03 2013-04-03 106480549 ENSG00000201379 uc063rar.1 NG_044201 HGNC:47012 +HGNC:47013 RNU4-77P RNA, U4 small nuclear 77, pseudogene pseudogene pseudogene Approved 1q42.2 01q42.2 2013-04-03 2013-04-03 106481196 ENSG00000252501 uc021pko.1 NG_043282 HGNC:47013 +HGNC:47014 RNU4-78P RNA, U4 small nuclear 78, pseudogene pseudogene pseudogene Approved 3p22.1 03p22.1 2013-04-03 2013-04-03 106479594 ENSG00000222872 uc021wwj.1 NG_045970 HGNC:47014 +HGNC:47015 RNU4-79P RNA, U4 small nuclear 79, pseudogene pseudogene pseudogene Approved 4q32.1 04q32.1 2013-04-03 2013-04-03 106481197 ENSG00000199634 uc063apr.1 NG_043291 HGNC:47015 +HGNC:47016 RNU4-80P RNA, U4 small nuclear 80, pseudogene pseudogene pseudogene Approved 15q22.2 15q22.2 2013-04-03 2013-04-03 106480386 ENSG00000200070 uc059jue.1 NG_031999 HGNC:47016 +HGNC:47017 RNU4-81P RNA, U4 small nuclear 81, pseudogene pseudogene pseudogene Approved Xq13.1 Xq13.1 2013-04-03 2013-04-03 106479595 ENSG00000200431 uc022byp.1 NG_015849 HGNC:47017 +HGNC:47018 RNU4-82P RNA, U4 small nuclear 82, pseudogene pseudogene pseudogene Approved 9q33.3 09q33.3 2013-04-03 2013-04-03 106481198 ENSG00000199313 uc064vqr.1 NG_045389 HGNC:47018 +HGNC:47019 RNU4-83P RNA, U4 small nuclear 83, pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 2013-04-03 2013-04-03 106479596 ENSG00000222795 uc064pck.1 NG_044778 HGNC:47019 +HGNC:47020 RNU4-84P RNA, U4 small nuclear 84, pseudogene pseudogene pseudogene Approved 2q11.2 02q11.2 2013-04-03 2013-04-03 106481873 ENSG00000201070 uc061mes.1 NG_045179 HGNC:47020 +HGNC:47021 RNU4-85P RNA, U4 small nuclear 85, pseudogene pseudogene pseudogene Approved 3p24.3 03p24.3 2013-04-03 2013-04-03 106479597 ENSG00000201545 uc062hkw.1 NG_044785 HGNC:47021 +HGNC:47022 RNU4-86P RNA, U4 small nuclear 86, pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 2013-04-03 2013-04-03 106481199 ENSG00000222067 uc021qrx.1 NG_043305 HGNC:47022 +HGNC:47023 RNU4-87P RNA, U4 small nuclear 87, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 2013-04-03 2013-04-03 106479598 ENSG00000200974 uc063ats.1 NG_045983 HGNC:47023 +HGNC:47024 RNU4-88P RNA, U4 small nuclear 88, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-04-03 2013-04-03 106479599 ENSG00000223152 uc021oom.1 NG_029038 HGNC:47024 +HGNC:47025 RNU4-89P RNA, U4 small nuclear 89, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-04-03 2015-02-04 106481200 ENSG00000272359 uc062sci.1 NG_043314 HGNC:47025 +HGNC:47026 RNU4-90P RNA, U4 small nuclear 90, pseudogene pseudogene pseudogene Approved 5q14.3 05q14.3 2013-04-03 2013-04-03 106479600 ENSG00000199643 uc063fip.1 NG_044810 HGNC:47026 +HGNC:47027 RNU4-91P RNA, U4 small nuclear 91, pseudogene pseudogene pseudogene Approved 3q26.31 03q26.31 2013-04-03 2013-04-03 106481201 ENSG00000201648 uc021xhr.2 NG_045399 HGNC:47027 +HGNC:47028 RNU4-92P RNA, U4 small nuclear 92, pseudogene pseudogene pseudogene Approved 14q31.3 14q31.3 2013-04-03 2013-04-03 106479601 ENSG00000200653 uc059edl.1 NG_008126 HGNC:47028 +HGNC:34016 RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) non-coding RNA RNA, small nuclear Approved 2q14.2 02q14.2 "RNU4ATAC1|U4atac" "Small nuclear RNAs|Minor spliceosome" "849|1520" 2008-03-12 2021-04-13 100151683 ENSG00000264229 uc010yzd.2 NR_023343 21990275 LRG_1202|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1202.xml 601428 265258 HGNC:34016 HGNC:34016 +HGNC:39003 RNU4ATAC2P RNA, U4atac small nuclear 2, pseudogene pseudogene pseudogene Approved 5q33.3 05q33.3 2010-09-17 2014-11-19 100873889 ENSG00000221601 uc063jfp.1 NG_032648 HGNC:39003 +HGNC:42575 RNU4ATAC3P RNA, U4atac small nuclear 3, pseudogene pseudogene pseudogene Approved 13q31.3 13q31.3 2011-08-08 2011-08-08 106480753 ENSG00000252508 uc058xtc.1 NG_009370 HGNC:42575 +HGNC:46890 RNU4ATAC4P RNA, U4atac small nuclear 4, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-04-03 2013-04-03 106479539 ENSG00000252116 uc057hjo.1 NG_044315 HGNC:46890 +HGNC:46891 RNU4ATAC5P RNA, U4atac small nuclear 5, pseudogene pseudogene pseudogene Approved 11q24.1 11q24.1 2013-04-03 2013-04-03 106481156 ENSG00000253035 uc058ioc.1 NG_042935 HGNC:46891 +HGNC:46892 RNU4ATAC6P RNA, U4atac small nuclear 6, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 2013-04-03 2013-04-03 106479540 ENSG00000252401 uc057slx.1 NG_044323 HGNC:46892 +HGNC:46893 RNU4ATAC7P RNA, U4atac small nuclear 7, pseudogene pseudogene pseudogene Approved 20q13.2 20q13.2 2013-04-03 2013-04-03 106480539 ENSG00000252089 uc021wez.1 NG_044131 HGNC:46893 +HGNC:46894 RNU4ATAC8P RNA, U4atac small nuclear 8, pseudogene pseudogene pseudogene Approved 1p31.1 01p31.1 2013-04-03 2013-04-03 106481157 ENSG00000252005 uc057hpe.1 NG_042943 HGNC:46894 +HGNC:46895 RNU4ATAC9P RNA, U4atac small nuclear 9, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 2013-04-03 2013-04-03 106479541 ENSG00000252955 uc062xez.1 NG_044333 HGNC:46895 +HGNC:46896 RNU4ATAC10P RNA, U4atac small nuclear 10, pseudogene pseudogene pseudogene Approved 11q24.1 11q24.1 2013-04-03 2013-04-03 106479542 ENSG00000252776 uc021qrp.1 NG_044341 HGNC:46896 +HGNC:46897 RNU4ATAC11P RNA, U4atac small nuclear 11, pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 2013-04-03 2013-04-03 106481158 ENSG00000251748 uc064sqw.1 NG_045260 HGNC:46897 +HGNC:46898 RNU4ATAC12P RNA, U4atac small nuclear 12, pseudogene pseudogene pseudogene Approved 12q24.33 12q24.33 2013-04-03 2013-04-03 106481865 ENSG00000252269 uc058vni.1 NG_044497 HGNC:46898 +HGNC:46899 RNU4ATAC13P RNA, U4atac small nuclear 13, pseudogene pseudogene pseudogene Approved 5q22.2 05q22.2 2013-04-03 2013-04-03 106479543 ENSG00000251741 uc063gca.1 NG_044351 HGNC:46899 +HGNC:46900 RNU4ATAC14P RNA, U4atac small nuclear 14, pseudogene pseudogene pseudogene Approved 14q24.3 14q24.3 2013-04-03 2013-04-03 106481159 ENSG00000252013 uc059dnl.1 NG_042959 HGNC:46900 +HGNC:46901 RNU4ATAC15P RNA, U4atac small nuclear 15, pseudogene pseudogene pseudogene Approved 9p21.1 09p21.1 2013-04-03 2013-04-03 106479544 ENSG00000252224 uc064sol.1 NG_044361 HGNC:46901 +HGNC:46902 RNU4ATAC16P RNA, U4atac small nuclear 16, pseudogene pseudogene pseudogene Approved 12p13.33 12p13.33 2013-04-03 2013-04-03 106481160 ENSG00000221439 uc021qsu.1 NG_045266 HGNC:46902 +HGNC:46903 RNU4ATAC17P RNA, U4atac small nuclear 17, pseudogene pseudogene pseudogene Approved 3p26.1 03p26.1 2013-04-03 2013-04-03 106480696 ENSG00000253081 uc021wsp.1 NG_045425 HGNC:46903 +HGNC:46904 RNU4ATAC18P RNA, U4atac small nuclear 18, pseudogene pseudogene pseudogene Approved 6q25.3 06q25.3 2013-04-03 2013-04-03 106481866 ENSG00000251988 uc063spg.1 NG_008729 HGNC:46904 +HGNC:10211 RNU5A-1 RNA, U5A small nuclear 1 non-coding RNA RNA, small nuclear Approved 15q22.31 15q22.31 "U5A|U5B1" "RNU5C|RNU5A" "RNA, U5C small nuclear|RNA, U5A small nuclear" "Small nuclear RNAs|U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "849|1503|1508|1510|1516" 1999-12-14 2011-08-03 2011-08-03 2014-11-18 26831 ENSG00000199568 uc032chj.2 NR_002756 1310151 180691 HGNC:10211 +HGNC:42515 RNU5A-2P RNA, U5A small nuclear 2, pseudogene pseudogene pseudogene Approved 4q21.21 04q21.21 2011-08-03 2014-02-12 100873830 ENSG00000207065 uc062xrr.1 NG_032610 HGNC:42515 +HGNC:42519 RNU5A-3P RNA, U5A small nuclear 3, pseudogene pseudogene pseudogene Approved 8p12 08p12 2011-08-03 2015-02-04 100873831 ENSG00000254172 uc064ltf.1 NG_032611 HGNC:42519 +HGNC:42521 RNU5A-4P RNA, U5A small nuclear 4, pseudogene pseudogene pseudogene Approved 13q13.2 13q13.2 2011-08-03 2011-08-03 100873870 ENSG00000252397 uc058wjp.1 NG_032643 HGNC:42521 +HGNC:42525 RNU5A-5P RNA, U5A small nuclear 5, pseudogene pseudogene pseudogene Approved 1q42.2 01q42.2 2011-08-03 2011-08-03 100873835 ENSG00000222986 uc057qjq.1 NG_032615 HGNC:42525 +HGNC:42527 RNU5A-6P RNA, U5A small nuclear 6, pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 2011-08-03 2011-08-03 100873871 ENSG00000206863 uc060nzx.1 NG_032644 HGNC:42527 +HGNC:42529 RNU5A-7P RNA, U5A small nuclear 7, pseudogene pseudogene pseudogene Approved 12q14.2 12q14.2 2011-08-03 2011-08-03 100873872 ENSG00000251788 uc058qjg.1 NG_032645 HGNC:42529 +HGNC:42530 RNU5A-8P RNA, U5A small nuclear 8, pseudogene pseudogene pseudogene Approved 1q32.2 01q32.2 2011-08-03 2011-08-03 100873838 ENSG00000200972 uc057pdb.1 NG_032618 HGNC:42530 +HGNC:10212 RNU5B-1 RNA, U5B small nuclear 1 non-coding RNA RNA, small nuclear Approved 15q22 15q22 U5B1 RNU5B RNA, U5B small nuclear Small nuclear RNAs 849 1999-12-14 2008-05-12 2008-05-12 2014-11-19 26832 ENSG00000200156 uc032chk.2 X04293 NR_002757 1310151 HGNC:10212 +HGNC:34182 RNU5B-2P RNA, U5B small nuclear 2, pseudogene pseudogene pseudogene Approved 3p22.1 03p22.1 2008-05-12 2011-08-03 2014-11-18 100147750 ENSG00000199906 uc062ilw.1 NG_007589 HGNC:34182 +HGNC:34183 RNU5B-3P RNA, U5B small nuclear 3, pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2008-05-12 2011-08-03 2014-11-19 100147751 ENSG00000252410 uc062ixe.1 NG_007590 HGNC:34183 +HGNC:34184 RNU5B-4P RNA, U5B small nuclear 4, pseudogene pseudogene pseudogene Approved 5q31.2 05q31.2 2008-05-12 2011-08-03 2014-11-18 100147752 ENSG00000200378 uc063hrs.1 NG_007591 HGNC:34184 +HGNC:34185 RNU5B-5P RNA, U5B small nuclear 5, pseudogene pseudogene pseudogene Approved 9q33.3 09q33.3 2008-05-12 2011-08-03 2011-10-11 100147753 NG_007592 HGNC:34185 +HGNC:34186 RNU5B-6P RNA, U5B small nuclear 6, pseudogene pseudogene pseudogene Approved 10q25.1 10q25.1 2008-05-12 2011-08-03 2014-11-18 100147754 ENSG00000252574 uc057vwk.1 NG_007593 HGNC:34186 +HGNC:10214 RNU5D-1 RNA, U5D small nuclear 1 non-coding RNA RNA, small nuclear Approved 1p34.1 01p34.1 "U5DS|U5DL" RNU5D RNA, U5D small nuclear Small nuclear RNAs 849 1999-12-14 2011-08-03 2011-08-03 2011-08-03 26830 ENSG00000200169 uc031tzh.2 M77838 NR_002755 1310151 HGNC:10214 +HGNC:42534 RNU5D-2P RNA, U5D small nuclear 2, pseudogene pseudogene pseudogene Approved 9q34.13 09q34.13 2011-08-03 2011-08-03 100873841 ENSG00000252521 uc064wsf.1 NG_032621 HGNC:42534 +HGNC:10215 RNU5E-1 RNA, U5E small nuclear 1 non-coding RNA RNA, small nuclear Approved 1p36.22 01p36.22 U5E RNU5E RNA, U5E small nuclear Small nuclear RNAs 849 1999-12-14 2011-08-03 2011-08-03 2014-11-19 26829 ENSG00000199347 uc031ton.2 M77839 NR_002754 1310151 HGNC:10215 +HGNC:42511 RNU5E-2P RNA, U5E small nuclear 2, pseudogene pseudogene pseudogene Approved 1q42.3 01q42.3 2011-08-03 2015-02-04 100873827 NG_032607 HGNC:42511 +HGNC:42512 RNU5E-3P RNA, U5E small nuclear 3, pseudogene pseudogene pseudogene Approved 4p11 04p11 2011-08-03 2011-08-03 100873828 ENSG00000251722 uc062wlk.1 NG_032608 HGNC:42512 +HGNC:42513 RNU5E-4P RNA, U5E small nuclear 4, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 2011-08-03 2011-08-03 100873829 ENSG00000201801 uc057cii.1 NG_032609 HGNC:42513 +HGNC:42520 RNU5E-5P RNA, U5E small nuclear 5, pseudogene pseudogene pseudogene Approved 12q23.2 12q23.2 2011-08-03 2011-08-03 100873869 ENSG00000202249 uc058sha.1 NG_032642 HGNC:42520 +HGNC:42522 RNU5E-6P RNA, U5E small nuclear 6, pseudogene pseudogene pseudogene Approved 1p34.1 01p34.1 2011-08-03 2011-08-03 100873832 ENSG00000202444 uc057fwx.1 NG_032612 HGNC:42522 +HGNC:42526 RNU5E-7P RNA, U5E small nuclear 7, pseudogene pseudogene pseudogene Approved 2p24.3 02p24.3 2011-08-03 2011-08-03 100873836 ENSG00000202160 uc061gvi.1 NG_032616 HGNC:42526 +HGNC:42528 RNU5E-8P RNA, U5E small nuclear 8, pseudogene pseudogene pseudogene Approved 3q13.31 03q13.31 2011-08-03 2011-08-03 100873837 ENSG00000200372 uc062msf.1 NG_032617 HGNC:42528 +HGNC:42532 RNU5E-9P RNA, U5E small nuclear 9, pseudogene pseudogene pseudogene Approved 2q31.2 02q31.2 2011-08-03 2011-08-03 100873840 ENSG00000223096 uc061qbn.1 NG_032620 HGNC:42532 +HGNC:42533 RNU5E-10P RNA, U5E small nuclear 10, pseudogene pseudogene pseudogene Approved 11p11.2 11p11.2 2011-08-03 2011-08-03 100873888 ENSG00000200376 uc058bgd.1 NG_011946 HGNC:42533 +HGNC:10216 RNU5F-1 RNA, U5F small nuclear 1 non-coding RNA RNA, small nuclear Approved 1p34.1 01p34.1 RNU5F RNA, U5F small nuclear Small nuclear RNAs 849 1999-12-14 2011-08-03 2011-08-03 2014-11-19 26828 ENSG00000199377 uc031tzg.2 M77840 NR_002753 1310151 HGNC:10216 +HGNC:42510 RNU5F-2P RNA, U5F small nuclear 2, pseudogene pseudogene pseudogene Approved 1q25.2 01q25.2 2011-08-03 2011-08-03 100873826 ENSG00000251875 uc057nqa.1 NG_032606 HGNC:42510 +HGNC:42514 RNU5F-3P RNA, U5F small nuclear 3, pseudogene pseudogene pseudogene Approved 18p11.31 18p11.31 2011-08-03 2011-08-03 100873866 ENSG00000200637 uc021ugq.1 NG_032639 HGNC:42514 +HGNC:42516 RNU5F-4P RNA, U5F small nuclear 4, pseudogene pseudogene pseudogene Approved 12p11.21 12p11.21 2011-08-03 2011-08-03 100873867 ENSG00000252390 uc058mmq.1 NG_032640 HGNC:42516 +HGNC:42518 RNU5F-5P RNA, U5F small nuclear 5, pseudogene pseudogene pseudogene Approved 22q12.2 22q12.2 2011-08-03 2012-10-03 100873868 NG_032641 HGNC:42518 +HGNC:42523 RNU5F-6P RNA, U5F small nuclear 6, pseudogene pseudogene pseudogene Approved 1q23.3 01q23.3 2011-08-03 2011-08-03 100873833 ENSG00000199849 uc057mwx.1 NG_032613 HGNC:42523 +HGNC:42524 RNU5F-7P RNA, U5F small nuclear 7, pseudogene pseudogene pseudogene Approved Xp22.2 Xp22.2 2011-08-03 2011-08-03 100873834 ENSG00000200566 uc064ydo.1 NG_032614 HGNC:42524 +HGNC:42531 RNU5F-8P RNA, U5F small nuclear 8, pseudogene pseudogene pseudogene Approved 1q43 01q43 2011-08-03 2011-08-03 100873839 ENSG00000251750 uc057qsb.1 NG_032619 HGNC:42531 +HGNC:10227 RNU6-1 RNA, U6 small nuclear 1 non-coding RNA RNA, small nuclear Approved 15q23 15q23 "U6|U6-1" RNU6A RNA, U6A small nuclear "Small nuclear RNAs|U4/U6 small nuclear ribonucleoprotein |Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "849|1502|1508|1510|1516" 1999-12-14 2008-05-27 2008-05-27 2014-11-19 26827 ENSG00000206625 uc032chq.1 M14486 NR_004394 "3360322|12711679" 180692 HGNC:10227 +HGNC:34270 RNU6-2 RNA, U6 small nuclear 2 non-coding RNA RNA, small nuclear Approved 19p13.3 19p13.3 U6-2 Small nuclear RNAs 849 2008-06-10 2013-05-01 2013-05-01 2013-09-13 103625684 ENSG00000207357 NR_125730 12711679 HGNC:34270 +HGNC:34275 RNU6-3P RNA, U6 small nuclear 3, pseudogene pseudogene pseudogene Approved Xq27.1 Xq27.1 U6-3 RNU6-3 RNA, U6 small nuclear 3 2008-06-10 2013-05-01 2013-05-01 2013-05-15 106478919 ENSG00000207041 NG_043487 12711679 HGNC:34275 +HGNC:34253 RNU6-4P RNA, U6 small nuclear 4, pseudogene pseudogene pseudogene Approved 3q26.33 03q26.33 U6-4 RNU6-4 RNA, U6 small nuclear 4 2008-06-10 2013-05-01 2013-05-01 2013-09-13 106478914 ENSG00000206932 uc021umd.1 NG_043454 12711679 HGNC:34253 +HGNC:34249 RNU6-5P RNA, U6 small nuclear 5, pseudogene pseudogene pseudogene Approved 2q31.1 02q31.1 U6-5 RNU6-5 RNA, U6 small nuclear 5 2008-06-10 2013-05-01 2013-05-01 2013-05-15 106478913 ENSG00000206965 NG_045051 12711679 HGNC:34249 +HGNC:10228 RNU6-6P RNA, U6 small nuclear 6, pseudogene pseudogene pseudogene Approved 10p13 10p13 U6-6 "RNU6B|RNU6-6" "RNA, U6B small nuclear|RNA, U6 small nuclear 6" 1999-12-14 2013-05-01 2013-05-01 2015-02-04 26826 ENSG00000272055 uc032hjb.1 K03099 NR_002752 12711679 HGNC:10228 +HGNC:34284 RNU6-7 RNA, U6 small nuclear 7 non-coding RNA RNA, small nuclear Approved 14q12 14q12 U6-7 Small nuclear RNAs 849 2008-06-10 2013-05-01 2013-05-01 2013-09-13 101954275 ENSG00000201654 NR_104084 12711679 HGNC:34284 +HGNC:34285 RNU6-8 RNA, U6 small nuclear 8 non-coding RNA RNA, small nuclear Approved 14q12 14q12 U6-8 Small nuclear RNAs 849 2008-06-10 2013-05-01 2013-05-01 2013-09-13 101954278 ENSG00000202337 NR_104088 12711679 HGNC:34285 +HGNC:34269 RNU6-9 RNA, U6 small nuclear 9 non-coding RNA RNA, small nuclear Approved 19p13.3 19p13.3 U6-9 Small nuclear RNAs 849 2008-06-10 2013-05-01 2013-05-01 2013-09-13 101954271 ENSG00000207507 NR_104080 12711679 HGNC:34269 +HGNC:34254 RNU6-10P RNA, U6 small nuclear 10, pseudogene pseudogene pseudogene Approved 7q21.2 07q21.2 RNU6-10 RNA, U6 small nuclear 10 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873745 ENSG00000206763 NR_046484 HGNC:34254 +HGNC:34255 RNU6-11P RNA, U6 small nuclear 11, pseudogene pseudogene pseudogene Approved 7q31.32 07q31.32 RNU6-11 RNA, U6 small nuclear 11 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106478915 ENSG00000201104 NG_045055 HGNC:34255 +HGNC:34256 RNU6-12P RNA, U6 small nuclear 12, pseudogene pseudogene pseudogene Approved 8q24.12 08q24.12 RNU6-12 RNA, U6 small nuclear 12 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106481973 ENSG00000207334 NG_043356 HGNC:34256 +HGNC:34257 RNU6-13P RNA, U6 small nuclear 13, pseudogene pseudogene pseudogene Approved 8q12.1 08q12.1 RNU6-13 RNA, U6 small nuclear 13 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106480423 ENSG00000206975 NG_043232 HGNC:34257 +HGNC:34258 RNU6-14P RNA, U6 small nuclear 14, pseudogene pseudogene pseudogene Approved 9p22.3 09p22.3 RNU6-14 RNA, U6 small nuclear 14 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873746 ENSG00000207360 NR_046485 HGNC:34258 +HGNC:34259 RNU6-15P RNA, U6 small nuclear 15, pseudogene pseudogene pseudogene Approved 10p12.31 10p12.31 RNU6-15 RNA, U6 small nuclear 15 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100302741 ENSG00000207264 NR_028372 HGNC:34259 +HGNC:34260 RNU6-16P RNA, U6 small nuclear 16, pseudogene pseudogene pseudogene Approved 11q14.3 11q14.3 RNU6-16 RNA, U6 small nuclear 16 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873753 ENSG00000207113 NR_046486 HGNC:34260 +HGNC:34261 RNU6-17P RNA, U6 small nuclear 17, pseudogene pseudogene pseudogene Approved 15q13.2 15q13.2 RNU6-17 RNA, U6 small nuclear 17 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106480705 ENSG00000206972 NG_043449 HGNC:34261 +HGNC:34262 RNU6-18P RNA, U6 small nuclear 18, pseudogene pseudogene pseudogene Approved 15q13.3 15q13.3 RNU6-18 RNA, U6 small nuclear 18 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106478916 ENSG00000207257 NG_043466 HGNC:34262 +HGNC:34263 RNU6-19P RNA, U6 small nuclear 19, pseudogene pseudogene pseudogene Approved 15q22.31 15q22.31 RNU6-19 RNA, U6 small nuclear 19 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873754 ENSG00000207449 NR_046487 HGNC:34263 +HGNC:34264 RNU6-20P RNA, U6 small nuclear 20, pseudogene pseudogene pseudogene Approved 16q21 16q21 RNU6-20 RNA, U6 small nuclear 20 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106480706 ENSG00000206833 NG_043458 HGNC:34264 +HGNC:34265 RNU6-21P RNA, U6 small nuclear 21, pseudogene pseudogene pseudogene Approved 16q21 16q21 RNU6-21 RNA, U6 small nuclear 21 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100302738 ENSG00000207441 NR_028369 HGNC:34265 +HGNC:34266 RNU6-22P RNA, U6 small nuclear 22, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 RNU6-22 RNA, U6 small nuclear 22 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106478917 ENSG00000207083 NG_044992 HGNC:34266 +HGNC:34267 RNU6-23P RNA, U6 small nuclear 23, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 RNU6-23 RNA, U6 small nuclear 23 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873755 ENSG00000200153 NR_046488 HGNC:34267 +HGNC:34268 RNU6-24P RNA, U6 small nuclear 24, pseudogene pseudogene pseudogene Approved 17q25.1 17q25.1 RNU6-24 RNA, U6 small nuclear 24 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106480707 ENSG00000207169 NG_043465 HGNC:34268 +HGNC:34251 RNU6-25P RNA, U6 small nuclear 25, pseudogene pseudogene pseudogene Approved 3q29 03q29 RNU6-25 RNA, U6 small nuclear 25 2008-06-10 2013-05-01 2013-05-01 2013-09-13 106480704 ENSG00000206600 uc032axs.1 NG_043441 HGNC:34251 +HGNC:34252 RNU6-26P RNA, U6 small nuclear 26, pseudogene pseudogene pseudogene Approved 3q12.1 03q12.1 RNU6-26 RNA, U6 small nuclear 26 2008-06-10 2013-05-01 2013-05-01 2013-09-13 100873741 ENSG00000206712 uc032axt.1 NR_046483 HGNC:34252 +HGNC:34271 RNU6-27P RNA, U6 small nuclear 27, pseudogene pseudogene pseudogene Approved 20p12.1 20p12.1 RNU6-27 RNA, U6 small nuclear 27 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106478918 ENSG00000251955 NG_043479 HGNC:34271 +HGNC:34272 RNU6-28P RNA, U6 small nuclear 28, pseudogene pseudogene pseudogene Approved 22q12.2 22q12.2 RNU6-28 RNA, U6 small nuclear 28 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873756 ENSG00000199248 NR_046489 HGNC:34272 +HGNC:34273 RNU6-29P RNA, U6 small nuclear 29, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 RNU6-29 RNA, U6 small nuclear 29 2008-06-10 2013-05-01 2013-05-01 2013-05-01 107131122 ENSG00000207367 NG_046640 HGNC:34273 +HGNC:34274 RNU6-30P RNA, U6 small nuclear 30, pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 RNU6-30 RNA, U6 small nuclear 30 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873747 ENSG00000207291 NR_046490 HGNC:34274 +HGNC:34250 RNU6-31P RNA, U6 small nuclear 31, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 RNU6-31 RNA, U6 small nuclear 31 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873740 ENSG00000207116 NR_046482 HGNC:34250 +HGNC:34276 RNU6-32P RNA, U6 small nuclear 32, pseudogene pseudogene pseudogene Approved 4p14 04p14 RNU6-32 RNA, U6 small nuclear 32 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106480708 ENSG00000206675 NG_045462 HGNC:34276 +HGNC:34277 RNU6-33P RNA, U6 small nuclear 33, pseudogene pseudogene pseudogene Approved 4q22.1 04q22.1 RNU6-33 RNA, U6 small nuclear 33 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873748 ENSG00000207524 NR_046491 HGNC:34277 +HGNC:34278 RNU6-34P RNA, U6 small nuclear 34, pseudogene pseudogene pseudogene Approved 4q22.3 04q22.3 RNU6-34 RNA, U6 small nuclear 34 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873749 ENSG00000201744 NR_046492 HGNC:34278 +HGNC:34279 RNU6-35P RNA, U6 small nuclear 35, pseudogene pseudogene pseudogene Approved 4q25 04q25 RNU6-35 RNA, U6 small nuclear 35 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873750 ENSG00000207260 NR_046493 HGNC:34279 +HGNC:34280 RNU6-36P RNA, U6 small nuclear 36, pseudogene pseudogene pseudogene Approved 12q23.1 12q23.1 RNU6-36 RNA, U6 small nuclear 36 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873757 ENSG00000206899 NR_046494 HGNC:34280 +HGNC:34281 RNU6-37P RNA, U6 small nuclear 37, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 RNU6-37 RNA, U6 small nuclear 37 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106478920 ENSG00000199562 NG_008069 HGNC:34281 +HGNC:34282 RNU6-38P RNA, U6 small nuclear 38, pseudogene pseudogene pseudogene Approved 13q22.2 13q22.2 RNU6-38 RNA, U6 small nuclear 38 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106480709 ENSG00000206812 NG_043476 HGNC:34282 +HGNC:34283 RNU6-39P RNA, U6 small nuclear 39, pseudogene pseudogene pseudogene Approved 18q22.1 18q22.1 RNU6-39 RNA, U6 small nuclear 39 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873758 ENSG00000207072 NR_046495 HGNC:34283 +HGNC:34248 RNU6-40P RNA, U6 small nuclear 40, pseudogene pseudogene pseudogene Approved 1p35.2 01p35.2 RNU6-40 RNA, U6 small nuclear 40 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106480703 ENSG00000206981 NG_043434 HGNC:34248 +HGNC:34247 RNU6-41P RNA, U6 small nuclear 41, pseudogene pseudogene pseudogene Approved 1q25.3 01q25.3 RNU6-41 RNA, U6 small nuclear 41 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106478912 ENSG00000207472 NG_043436 HGNC:34247 +HGNC:34286 RNU6-42P RNA, U6 small nuclear 42, pseudogene pseudogene pseudogene Approved 3q29 03q29 RNU6-42 RNA, U6 small nuclear 42 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100302742 ENSG00000206892 NR_028373 HGNC:34286 +HGNC:34287 RNU6-43P RNA, U6 small nuclear 43, pseudogene pseudogene pseudogene Approved 10q24.32 10q24.32 RNU6-43 RNA, U6 small nuclear 43 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106478921 ENSG00000207029 NG_044991 HGNC:34287 +HGNC:34288 RNU6-44P RNA, U6 small nuclear 44, pseudogene pseudogene pseudogene Approved 11q23.1 11q23.1 RNU6-44 RNA, U6 small nuclear 44 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106478922 ENSG00000206772 NG_043511 HGNC:34288 +HGNC:34289 RNU6-45P RNA, U6 small nuclear 45, pseudogene pseudogene pseudogene Approved 11q13.1 11q13.1 RNU6-45 RNA, U6 small nuclear 45 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873759 ENSG00000207200 NR_046496 HGNC:34289 +HGNC:34290 RNU6-46P RNA, U6 small nuclear 46, pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 RNU6-46 RNA, U6 small nuclear 46 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100873760 ENSG00000206587 NR_046497 HGNC:34290 +HGNC:34291 RNU6-47P RNA, U6 small nuclear 47, pseudogene pseudogene pseudogene Approved 5q21.3 05q21.3 RNU6-47 RNA, U6 small nuclear 47 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106480710 ENSG00000206593 NG_043484 HGNC:34291 +HGNC:34292 RNU6-48P RNA, U6 small nuclear 48, pseudogene pseudogene pseudogene Approved 1p36.11 01p36.11 RNU6-48 RNA, U6 small nuclear 48 2008-06-10 2013-05-01 2013-05-01 2013-05-01 100887744 ENSG00000206888 NR_049779 HGNC:34292 +HGNC:34293 RNU6-49P RNA, U6 small nuclear 49, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 RNU6-49 RNA, U6 small nuclear 49 2008-06-10 2013-05-01 2013-05-01 2013-05-01 106478923 ENSG00000206983 NG_043520 HGNC:34293 +HGNC:10229 RNU6-50P RNA, U6 small nuclear 50, pseudogene pseudogene pseudogene Approved Xp11.3 Xp11.3 U6 "RNU6P1|RNU6-50" "RNA, U6 small nuclear pseudogene 1|RNA, U6 small nuclear 50" 1999-12-14 2013-05-01 2013-05-01 2014-11-19 26825 ENSG00000199226 K03026 NG_001248 2998934 HGNC:10229 +HGNC:42542 RNU6-52P RNA, U6 small nuclear 52, pseudogene pseudogene pseudogene Approved 13q12.11 13q12.11 RNU6-52 RNA, U6 small nuclear 52 2011-08-08 2013-05-01 2013-05-01 2015-02-04 100873761 NR_046927 HGNC:42542 +HGNC:42543 RNU6-53P RNA, U6 small nuclear 53, pseudogene pseudogene pseudogene Approved 13q12.3 13q12.3 RNU6-53 RNA, U6 small nuclear 53 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873762 ENSG00000202237 NR_046928 HGNC:42543 +HGNC:42544 RNU6-54P RNA, U6 small nuclear 54, pseudogene pseudogene pseudogene Approved 13q21.33 13q21.33 RNU6-54 RNA, U6 small nuclear 54 2011-08-08 2013-05-01 2013-05-01 2013-05-01 106478986 ENSG00000202433 NG_043989 HGNC:42544 +HGNC:42545 RNU6-55P RNA, U6 small nuclear 55, pseudogene pseudogene pseudogene Approved 13q11 13q11 RNU6-55 RNA, U6 small nuclear 55 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873763 ENSG00000223024 NR_046929 HGNC:42545 +HGNC:42546 RNU6-56P RNA, U6 small nuclear 56, pseudogene pseudogene pseudogene Approved 13q13.3 13q13.3 RNU6-56 RNA, U6 small nuclear 56 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873764 ENSG00000252795 NR_046930 HGNC:42546 +HGNC:42547 RNU6-57P RNA, U6 small nuclear 57, pseudogene pseudogene pseudogene Approved 13q14.11 13q14.11 RNU6-57 RNA, U6 small nuclear 57 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873765 ENSG00000223280 NR_046931 HGNC:42547 +HGNC:42548 RNU6-58P RNA, U6 small nuclear 58, pseudogene pseudogene pseudogene Approved 13q12.12 13q12.12 RNU6-58 RNA, U6 small nuclear 58 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873766 ENSG00000252952 NR_046932 HGNC:42548 +HGNC:42549 RNU6-59P RNA, U6 small nuclear 59, pseudogene pseudogene pseudogene Approved 13q12.11 13q12.11 RNU6-59 RNA, U6 small nuclear 59 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873767 ENSG00000207518 NR_046933 HGNC:42549 +HGNC:42550 RNU6-60P RNA, U6 small nuclear 60, pseudogene pseudogene pseudogene Approved 13q14.2 13q14.2 RNU6-60 RNA, U6 small nuclear 60 2011-08-08 2013-05-01 2013-05-01 2013-05-01 106480750 ENSG00000201662 NG_045579 HGNC:42550 +HGNC:42551 RNU6-61P RNA, U6 small nuclear 61, pseudogene pseudogene pseudogene Approved 13q31.1 13q31.1 RNU6-61 RNA, U6 small nuclear 61 2011-08-08 2013-05-01 2013-05-01 2013-05-01 106480435 ENSG00000202398 NG_043337 HGNC:42551 +HGNC:42552 RNU6-62P RNA, U6 small nuclear 62, pseudogene pseudogene pseudogene Approved 13q32.1 13q32.1 RNU6-62 RNA, U6 small nuclear 62 2011-08-08 2013-05-01 2013-05-01 2013-05-01 106478987 ENSG00000252335 NG_043992 HGNC:42552 +HGNC:42553 RNU6-63P RNA, U6 small nuclear 63, pseudogene pseudogene pseudogene Approved 13q12.2 13q12.2 RNU6-63 RNA, U6 small nuclear 63 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873768 ENSG00000252499 NR_046934 HGNC:42553 +HGNC:42554 RNU6-64P RNA, U6 small nuclear 64, pseudogene pseudogene pseudogene Approved 13q12.3 13q12.3 RNU6-64 RNA, U6 small nuclear 64 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873769 ENSG00000252928 NR_046935 HGNC:42554 +HGNC:42555 RNU6-65P RNA, U6 small nuclear 65, pseudogene pseudogene pseudogene Approved 13q14.3 13q14.3 RNU6-65 RNA, U6 small nuclear 65 2011-08-08 2013-05-01 2013-05-01 2013-05-01 106480751 ENSG00000252141 NG_043802 HGNC:42555 +HGNC:42556 RNU6-66P RNA, U6 small nuclear 66, pseudogene pseudogene pseudogene Approved 13q22.1 13q22.1 RNU6-66 RNA, U6 small nuclear 66 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873770 ENSG00000200267 NR_046936 HGNC:42556 +HGNC:42557 RNU6-67P RNA, U6 small nuclear 67, pseudogene pseudogene pseudogene Approved 13q31.1 13q31.1 RNU6-67 RNA, U6 small nuclear 67 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873771 ENSG00000222791 NR_046937 HGNC:42557 +HGNC:42558 RNU6-68P RNA, U6 small nuclear 68, pseudogene pseudogene pseudogene Approved 13q14.13 13q14.13 RNU6-68 RNA, U6 small nuclear 68 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873772 ENSG00000252385 NR_046938 HGNC:42558 +HGNC:42559 RNU6-69P RNA, U6 small nuclear 69, pseudogene pseudogene pseudogene Approved 13q14.12 13q14.12 RNU6-69 RNA, U6 small nuclear 69 2011-08-08 2013-05-01 2013-05-01 2015-02-04 100873773 NR_046939 HGNC:42559 +HGNC:42560 RNU6-70P RNA, U6 small nuclear 70, pseudogene pseudogene pseudogene Approved 13q12.2 13q12.2 RNU6-70 RNA, U6 small nuclear 70 2011-08-08 2013-05-01 2013-05-01 2013-05-01 106478988 ENSG00000252247 NG_044001 HGNC:42560 +HGNC:42561 RNU6-71P RNA, U6 small nuclear 71, pseudogene pseudogene pseudogene Approved 13q13.3 13q13.3 RNU6-71 RNA, U6 small nuclear 71 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873774 ENSG00000207203 NR_046940 HGNC:42561 +HGNC:42562 RNU6-72P RNA, U6 small nuclear 72, pseudogene pseudogene pseudogene Approved 13q31.1 13q31.1 RNU6-72 RNA, U6 small nuclear 72 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873775 ENSG00000207012 NR_046941 HGNC:42562 +HGNC:42563 RNU6-73P RNA, U6 small nuclear 73, pseudogene pseudogene pseudogene Approved 13q12.2 13q12.2 RNU6-73 RNA, U6 small nuclear 73 2011-08-08 2013-05-01 2013-05-01 2013-05-01 106478989 ENSG00000207330 NG_044010 HGNC:42563 +HGNC:42564 RNU6-74P RNA, U6 small nuclear 74, pseudogene pseudogene pseudogene Approved 13q14.11 13q14.11 RNU6-74 RNA, U6 small nuclear 74 2011-08-08 2013-05-01 2013-05-01 2013-05-01 106480752 ENSG00000206962 NG_043811 HGNC:42564 +HGNC:42565 RNU6-75P RNA, U6 small nuclear 75, pseudogene pseudogene pseudogene Approved 13q31.3 13q31.3 RNU6-75 RNA, U6 small nuclear 75 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873776 ENSG00000251753 NR_046942 HGNC:42565 +HGNC:42566 RNU6-76P RNA, U6 small nuclear 76, pseudogene pseudogene pseudogene Approved 13q11 13q11 "RNU6-76|RNU6-1002P" "RNA, U6 small nuclear 76|RNA, U6 small nuclear 1002, pseudogene" 2011-08-08 2013-05-01 2013-05-01 2016-02-10 100873777 ENSG00000206787 NR_046943 HGNC:42566 +HGNC:42567 RNU6-77P RNA, U6 small nuclear 77, pseudogene pseudogene pseudogene Approved 13q31.1 13q31.1 RNU6-77 RNA, U6 small nuclear 77 2011-08-08 2013-05-01 2013-05-01 2013-05-01 106481792 ENSG00000222486 NG_043924 HGNC:42567 +HGNC:42568 RNU6-78P RNA, U6 small nuclear 78, pseudogene pseudogene pseudogene Approved 13q12.13 13q12.13 RNU6-78 RNA, U6 small nuclear 78 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873778 ENSG00000199767 NR_046944 HGNC:42568 +HGNC:42569 RNU6-79P RNA, U6 small nuclear 79, pseudogene pseudogene pseudogene Approved 13q22.1 13q22.1 RNU6-79 RNA, U6 small nuclear 79 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873779 ENSG00000199381 NR_046945 HGNC:42569 +HGNC:42570 RNU6-80P RNA, U6 small nuclear 80, pseudogene pseudogene pseudogene Approved 13q21.33 13q21.33 RNU6-80 RNA, U6 small nuclear 80 2011-08-08 2013-05-01 2013-05-01 2013-05-01 106478990 ENSG00000206922 NG_044017 HGNC:42570 +HGNC:42571 RNU6-81P RNA, U6 small nuclear 81, pseudogene pseudogene pseudogene Approved 13q21.31 13q21.31 RNU6-81 RNA, U6 small nuclear 81 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873780 ENSG00000202478 NR_046946 HGNC:42571 +HGNC:42572 RNU6-82P RNA, U6 small nuclear 82, pseudogene pseudogene pseudogene Approved 13q12.2 13q12.2 RNU6-82 RNA, U6 small nuclear 82 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873781 ENSG00000200840 NR_046947 HGNC:42572 +HGNC:42573 RNU6-83P RNA, U6 small nuclear 83, pseudogene pseudogene pseudogene Approved 13q32.3 13q32.3 RNU6-83 RNA, U6 small nuclear 83 2011-08-08 2013-05-01 2013-05-01 2013-05-01 100873782 ENSG00000207298 NR_046948 HGNC:42573 +HGNC:47047 RNU6-84P RNA, U6 small nuclear 84, pseudogene pseudogene pseudogene Approved 6q14.1 06q14.1 2013-05-01 2015-02-04 106479603 ENSG00000272445 NG_044836 HGNC:47047 +HGNC:47048 RNU6-85P RNA, U6 small nuclear 85, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-05-01 2015-02-05 106481203 ENSG00000271932 NG_045040 HGNC:47048 +HGNC:47049 RNU6-86P RNA, U6 small nuclear 86, pseudogene pseudogene pseudogene Approved 9q22.1 09q22.1 2013-05-01 2015-02-05 106479604 ENSG00000271923 NG_044844 HGNC:47049 +HGNC:47050 RNU6-87P RNA, U6 small nuclear 87, pseudogene pseudogene pseudogene Approved 12q13.12 12q13.12 2013-05-01 2015-02-05 106481204 ENSG00000272028 NG_045411 HGNC:47050 +HGNC:47051 RNU6-88P RNA, U6 small nuclear 88, pseudogene pseudogene pseudogene Approved 10p14 10p14 2013-05-01 2015-02-05 106479605 ENSG00000272507 NG_044853 HGNC:47051 +HGNC:47052 RNU6-89P RNA, U6 small nuclear 89, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 2013-05-01 2015-02-05 106480550 ENSG00000272262 NG_044208 HGNC:47052 +HGNC:47053 RNU6-90P RNA, U6 small nuclear 90, pseudogene pseudogene pseudogene Approved 15q21.2 15q21.2 2013-05-01 2015-02-05 106481205 ENSG00000272337 NG_045416 HGNC:47053 +HGNC:47054 RNU6-91P RNA, U6 small nuclear 91, pseudogene pseudogene pseudogene Approved 14q32.2 14q32.2 2013-05-01 2015-02-05 106479606 ENSG00000272439 NG_044863 HGNC:47054 +HGNC:47055 RNU6-92P RNA, U6 small nuclear 92, pseudogene pseudogene pseudogene Approved 7q33 07q33 2013-05-01 2015-02-05 106479607 ENSG00000272393 NG_044869 HGNC:47055 +HGNC:47057 RNU6-94P RNA, U6 small nuclear 94, pseudogene pseudogene pseudogene Approved 15q21.2 15q21.2 2013-05-01 2015-02-05 106481206 ENSG00000271819 NG_029475 HGNC:47057 +HGNC:47058 RNU6-95P RNA, U6 small nuclear 95, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 2013-05-01 2013-05-01 106479608 ENSG00000207428 NG_044876 HGNC:47058 +HGNC:47060 RNU6-97P RNA, U6 small nuclear 97, pseudogene pseudogene pseudogene Approved 17q25.1 17q25.1 2013-05-01 2013-05-01 106480551 ENSG00000200257 NG_045768 HGNC:47060 +HGNC:47061 RNU6-98P RNA, U6 small nuclear 98, pseudogene pseudogene pseudogene Approved Xq26.2 Xq26.2 2013-05-01 2013-05-01 106479609 ENSG00000206900 NG_044884 HGNC:47061 +HGNC:47062 RNU6-99P RNA, U6 small nuclear 99, pseudogene pseudogene pseudogene Approved 11p12 11p12 2013-05-01 2013-05-01 106479610 ENSG00000201591 NG_044892 HGNC:47062 +HGNC:47063 RNU6-100P RNA, U6 small nuclear 100, pseudogene pseudogene pseudogene Approved 2p14 02p14 2013-05-01 2013-05-01 106481208 ENSG00000252414 NG_045427 HGNC:47063 +HGNC:47064 RNU6-101P RNA, U6 small nuclear 101, pseudogene pseudogene pseudogene Approved 12q23.2 12q23.2 2013-05-01 2013-05-01 106479611 ENSG00000222255 NG_046030 HGNC:47064 +HGNC:47065 RNU6-102P RNA, U6 small nuclear 102, pseudogene pseudogene pseudogene Approved 7q31.33 07q31.33 2013-05-01 2013-05-01 106481209 ENSG00000207214 NG_043385 HGNC:47065 +HGNC:47066 RNU6-103P RNA, U6 small nuclear 103, pseudogene pseudogene pseudogene Approved 16q21 16q21 2013-05-01 2013-05-01 106480552 ENSG00000200556 NG_045771 HGNC:47066 +HGNC:47067 RNU6-104P RNA, U6 small nuclear 104, pseudogene pseudogene pseudogene Approved 8p11.1 08p11.1 2013-05-01 2013-05-01 106479612 ENSG00000238509 NG_046032 HGNC:47067 +HGNC:47068 RNU6-105P RNA, U6 small nuclear 105, pseudogene pseudogene pseudogene Approved 2p13.2 02p13.2 2013-05-01 2013-05-01 106481210 ENSG00000200779 NG_045046 HGNC:47068 +HGNC:47069 RNU6-106P RNA, U6 small nuclear 106, pseudogene pseudogene pseudogene Approved 1q22 01q22 2013-05-01 2013-05-01 106479613 ENSG00000207134 NG_046036 HGNC:47069 +HGNC:47070 RNU6-107P RNA, U6 small nuclear 107, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2013-05-01 2013-05-01 106479614 ENSG00000252452 NG_011847 HGNC:47070 +HGNC:47071 RNU6-108P RNA, U6 small nuclear 108, pseudogene pseudogene pseudogene Approved 3p14.3 03p14.3 2013-05-01 2013-05-01 106481875 ENSG00000202428 NG_045900 HGNC:47071 +HGNC:47072 RNU6-109P RNA, U6 small nuclear 109, pseudogene pseudogene pseudogene Approved Yq11.221 Yq11.221 2013-05-01 2013-05-01 106481211 ENSG00000252173 NG_043400 HGNC:47072 +HGNC:47073 RNU6-110P RNA, U6 small nuclear 110, pseudogene pseudogene pseudogene Approved 1p36.11 01p36.11 2013-05-01 2013-05-01 106479615 ENSG00000207237 NG_044929 HGNC:47073 +HGNC:47074 RNU6-111P RNA, U6 small nuclear 111, pseudogene pseudogene pseudogene Approved 2p13.1 02p13.1 2013-05-01 2013-05-01 106481212 ENSG00000252988 NG_043408 HGNC:47074 +HGNC:47075 RNU6-112P RNA, U6 small nuclear 112, pseudogene pseudogene pseudogene Approved 4q22.1 04q22.1 2013-05-01 2013-05-01 107057647 ENSG00000200469 NG_046353 HGNC:47075 +HGNC:47076 RNU6-113P RNA, U6 small nuclear 113, pseudogene pseudogene pseudogene Approved 21q21.1 21q21.1 2013-05-01 2013-05-01 106479616 ENSG00000252462 NG_042902 HGNC:47076 +HGNC:47077 RNU6-114P RNA, U6 small nuclear 114, pseudogene pseudogene pseudogene Approved Xp22.33 Xp22.33 2013-05-01 2013-05-01 106481765 ENSG00000207435 NG_043728 HGNC:47077 +HGNC:47078 RNU6-115P RNA, U6 small nuclear 115, pseudogene pseudogene pseudogene Approved 20p12.1 20p12.1 2013-05-01 2013-05-01 106479617 ENSG00000201180 NG_054905 HGNC:47078 +HGNC:47079 RNU6-116P RNA, U6 small nuclear 116, pseudogene pseudogene pseudogene Approved 18q21.33 18q21.33 2013-05-01 2013-05-01 106480553 ENSG00000206769 NG_044233 HGNC:47079 +HGNC:47080 RNU6-117P RNA, U6 small nuclear 117, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106481213 ENSG00000202285 NG_045443 HGNC:47080 +HGNC:47081 RNU6-118P RNA, U6 small nuclear 118, pseudogene pseudogene pseudogene Approved 11q12.3 11q12.3 2013-05-01 2013-05-01 106479618 ENSG00000252361 NG_045243 HGNC:47081 +HGNC:47082 RNU6-119P RNA, U6 small nuclear 119, pseudogene pseudogene pseudogene Approved 4q26 04q26 2013-05-01 2013-05-01 106481214 ENSG00000201752 NG_043428 HGNC:47082 +HGNC:47083 RNU6-120P RNA, U6 small nuclear 120, pseudogene pseudogene pseudogene Approved 18q11.1 18q11.1 2013-05-01 2013-05-01 106479619 ENSG00000251886 NG_042922 HGNC:47083 +HGNC:47084 RNU6-121P RNA, U6 small nuclear 121, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-05-01 2013-05-01 106481215 ENSG00000222457 NG_043435 HGNC:47084 +HGNC:47085 RNU6-122P RNA, U6 small nuclear 122, pseudogene pseudogene pseudogene Approved Xq25 Xq25 2013-05-01 2013-05-01 106481876 ENSG00000252627 NG_045903 HGNC:47085 +HGNC:47086 RNU6-123P RNA, U6 small nuclear 123, pseudogene pseudogene pseudogene Approved 21q21.3 21q21.3 2013-05-01 2013-05-01 106479620 ENSG00000251972 NG_007376 HGNC:47086 +HGNC:47088 RNU6-125P RNA, U6 small nuclear 125, pseudogene pseudogene pseudogene Approved 1p22.2 01p22.2 2013-05-01 2013-05-01 106479621 ENSG00000207234 NG_045254 HGNC:47088 +HGNC:47089 RNU6-126P RNA, U6 small nuclear 126, pseudogene pseudogene pseudogene Approved 11q14.1 11q14.1 2013-05-01 2013-05-01 106479622 ENSG00000252494 NG_008926 HGNC:47089 +HGNC:47090 RNU6-127P RNA, U6 small nuclear 127, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 2013-05-01 2013-05-01 106480554 ENSG00000212199 NG_045779 HGNC:47090 +HGNC:47091 RNU6-128P RNA, U6 small nuclear 128, pseudogene pseudogene pseudogene Approved 4q32.1 04q32.1 2013-05-01 2013-05-01 106481217 ENSG00000206703 NG_043451 HGNC:47091 +HGNC:47092 RNU6-129P RNA, U6 small nuclear 129, pseudogene pseudogene pseudogene Approved 10q23.1 10q23.1 2013-05-01 2013-05-01 106479623 ENSG00000212324 NG_042954 HGNC:47092 +HGNC:47093 RNU6-130P RNA, U6 small nuclear 130, pseudogene pseudogene pseudogene Approved 6q14.1 06q14.1 2013-05-01 2013-05-01 106481218 ENSG00000223044 NG_045456 HGNC:47093 +HGNC:47094 RNU6-131P RNA, U6 small nuclear 131, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-05-01 2013-05-01 106479624 ENSG00000212446 NG_042963 HGNC:47094 +HGNC:47095 RNU6-132P RNA, U6 small nuclear 132, pseudogene pseudogene pseudogene Approved 15q26.1 15q26.1 2013-05-01 2013-05-01 106481219 ENSG00000206590 NG_051641 HGNC:47095 +HGNC:47096 RNU6-133P RNA, U6 small nuclear 133, pseudogene pseudogene pseudogene Approved Xp22.12 Xp22.12 2013-05-01 2013-05-01 106481877 ENSG00000206716 NG_044597 HGNC:47096 +HGNC:47098 RNU6-135P RNA, U6 small nuclear 135, pseudogene pseudogene pseudogene Approved 1p36.12 01p36.12 2013-05-01 2013-05-01 106479625 ENSG00000252578 NG_042972 HGNC:47098 +HGNC:47099 RNU6-136P RNA, U6 small nuclear 136, pseudogene pseudogene pseudogene Approved 2q35 02q35 2013-05-01 2013-05-01 106479626 ENSG00000207393 NG_045271 HGNC:47099 +HGNC:47100 RNU6-137P RNA, U6 small nuclear 137, pseudogene pseudogene pseudogene Approved 2p21 02p21 2013-05-01 2013-05-01 106481220 ENSG00000200550 NG_045057 HGNC:47100 +HGNC:47101 RNU6-138P RNA, U6 small nuclear 138, pseudogene pseudogene pseudogene Approved 3p24.3 03p24.3 2013-05-01 2013-05-01 106479627 ENSG00000251761 NG_042988 HGNC:47101 +HGNC:47102 RNU6-139P RNA, U6 small nuclear 139, pseudogene pseudogene pseudogene Approved 3p14.2 03p14.2 2013-05-01 2013-05-01 106481977 ENSG00000252449 NG_047093 HGNC:47102 +HGNC:47103 RNU6-140P RNA, U6 small nuclear 140, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 2013-05-01 2013-05-01 106481221 ENSG00000207296 NG_043477 HGNC:47103 +HGNC:47104 RNU6-141P RNA, U6 small nuclear 141, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-05-01 2013-05-01 106480555 ENSG00000222431 NG_044249 HGNC:47104 +HGNC:47105 RNU6-142P RNA, U6 small nuclear 142, pseudogene pseudogene pseudogene Approved 18q21.33 18q21.33 2013-05-01 2013-05-01 106479628 ENSG00000206746 NG_042997 HGNC:47105 +HGNC:47106 RNU6-143P RNA, U6 small nuclear 143, pseudogene pseudogene pseudogene Approved 3q21.2 03q21.2 2013-05-01 2013-05-01 106479629 ENSG00000252751 NG_012742 HGNC:47106 +HGNC:47107 RNU6-144P RNA, U6 small nuclear 144, pseudogene pseudogene pseudogene Approved 8q24.23 08q24.23 2013-05-01 2013-05-01 106481222 ENSG00000206678 NG_043486 HGNC:47107 +HGNC:47108 RNU6-145P RNA, U6 small nuclear 145, pseudogene pseudogene pseudogene Approved 4q21.1 04q21.1 2013-05-01 2013-05-01 106479630 ENSG00000207307 NG_043015 HGNC:47108 +HGNC:47109 RNU6-146P RNA, U6 small nuclear 146, pseudogene pseudogene pseudogene Approved Xp22.33 Xp22.33 2013-05-01 2013-05-01 106865372 ENSG00000207332 NG_016716 HGNC:47109 +HGNC:47110 RNU6-147P RNA, U6 small nuclear 147, pseudogene pseudogene pseudogene Approved 20q13.13 20q13.13 2013-05-01 2013-05-01 106480556 ENSG00000206710 NG_044257 HGNC:47110 +HGNC:47111 RNU6-148P RNA, U6 small nuclear 148, pseudogene pseudogene pseudogene Approved 12q21.33 12q21.33 2013-05-01 2013-05-01 106479631 ENSG00000252823 NG_043025 HGNC:47111 +HGNC:47113 RNU6-150P RNA, U6 small nuclear 150, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-05-01 2013-05-01 106479632 ENSG00000252046 NG_021195 HGNC:47113 +HGNC:47114 RNU6-151P RNA, U6 small nuclear 151, pseudogene pseudogene pseudogene Approved 1p13.2 01p13.2 2013-05-01 2013-05-01 106479633 ENSG00000201028 NG_043043 HGNC:47114 +HGNC:47115 RNU6-152P RNA, U6 small nuclear 152, pseudogene pseudogene pseudogene Approved 1q25.3 01q25.3 2013-05-01 2013-05-01 106481223 ENSG00000206764 NG_043492 HGNC:47115 +HGNC:47116 RNU6-153P RNA, U6 small nuclear 153, pseudogene pseudogene pseudogene Approved 6q27 06q27 2013-05-01 2013-05-01 106479634 ENSG00000201292 NG_043053 HGNC:47116 +HGNC:47117 RNU6-154P RNA, U6 small nuclear 154, pseudogene pseudogene pseudogene Approved Xq23 Xq23 2013-05-01 2013-05-01 106481878 ENSG00000207033 NG_044605 HGNC:47117 +HGNC:47118 RNU6-155P RNA, U6 small nuclear 155, pseudogene pseudogene pseudogene Approved 6q14.1 06q14.1 2013-05-01 2013-05-01 106481224 ENSG00000252156 NG_043500 HGNC:47118 +HGNC:47119 RNU6-156P RNA, U6 small nuclear 156, pseudogene pseudogene pseudogene Approved 9q13 09q13 2013-05-01 2015-02-04 106479635 ENSG00000278331 NG_043061 HGNC:47119 +HGNC:47120 RNU6-157P RNA, U6 small nuclear 157, pseudogene pseudogene pseudogene Approved 1q24.3 01q24.3 2013-05-01 2013-05-01 106479636 ENSG00000206684 NG_045302 HGNC:47120 +HGNC:47121 RNU6-158P RNA, U6 small nuclear 158, pseudogene pseudogene pseudogene Approved 4p11 04p11 2013-05-01 2013-05-01 106481225 ENSG00000252913 NG_043509 HGNC:47121 +HGNC:47122 RNU6-159P RNA, U6 small nuclear 159, pseudogene pseudogene pseudogene Approved 16p12.1 16p12.1 2013-05-01 2013-05-01 106480557 ENSG00000212382 NG_044265 HGNC:47122 +HGNC:47123 RNU6-160P RNA, U6 small nuclear 160, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-05-01 2013-05-01 106479637 ENSG00000207321 NG_043075 HGNC:47123 +HGNC:47124 RNU6-161P RNA, U6 small nuclear 161, pseudogene pseudogene pseudogene Approved 1p31.1 01p31.1 2013-05-01 2013-05-01 106480387 ENSG00000199921 NG_042924 HGNC:47124 +HGNC:47125 RNU6-162P RNA, U6 small nuclear 162, pseudogene pseudogene pseudogene Approved 7q35 07q35 2013-05-01 2013-05-01 106481226 ENSG00000252037 NG_043518 HGNC:47125 +HGNC:47126 RNU6-163P RNA, U6 small nuclear 163, pseudogene pseudogene pseudogene Approved 10p15.1 10p15.1 2013-05-01 2013-05-01 106479638 ENSG00000207124 NG_043084 HGNC:47126 +HGNC:47127 RNU6-164P RNA, U6 small nuclear 164, pseudogene pseudogene pseudogene Approved 5q34 05q34 2013-05-01 2013-05-01 106479639 ENSG00000201474 NG_043093 HGNC:47127 +HGNC:47128 RNU6-165P RNA, U6 small nuclear 165, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 2013-05-01 2013-05-01 106481227 ENSG00000252979 NG_045482 HGNC:47128 +HGNC:47129 RNU6-166P RNA, U6 small nuclear 166, pseudogene pseudogene pseudogene Approved 12q14.3 12q14.3 2013-05-01 2013-05-01 106481879 ENSG00000207099 NG_044615 HGNC:47129 +HGNC:47130 RNU6-167P RNA, U6 small nuclear 167, pseudogene pseudogene pseudogene Approved 18q12.1 18q12.1 2013-05-01 2013-05-01 106481228 ENSG00000207019 NG_045484 HGNC:47130 +HGNC:47131 RNU6-168P RNA, U6 small nuclear 168, pseudogene pseudogene pseudogene Approved 5q34 05q34 2013-05-01 2013-05-01 106479640 ENSG00000251998 NG_043101 HGNC:47131 +HGNC:47132 RNU6-169P RNA, U6 small nuclear 169, pseudogene pseudogene pseudogene Approved 2q32.3 02q32.3 2013-05-01 2013-05-01 106481229 ENSG00000202206 NG_043543 HGNC:47132 +HGNC:47133 RNU6-170P RNA, U6 small nuclear 170, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 2013-05-01 2013-05-01 106479641 ENSG00000199702 NG_043112 HGNC:47133 +HGNC:47134 RNU6-171P RNA, U6 small nuclear 171, pseudogene pseudogene pseudogene Approved 1q23.3 01q23.3 2013-05-01 2013-05-01 106481230 ENSG00000207082 NG_028246 HGNC:47134 +HGNC:47135 RNU6-172P RNA, U6 small nuclear 172, pseudogene pseudogene pseudogene Approved 12q23.2 12q23.2 2013-05-01 2013-05-01 106479642 ENSG00000222932 NG_045322 HGNC:47135 +HGNC:47136 RNU6-173P RNA, U6 small nuclear 173, pseudogene pseudogene pseudogene Approved 4q35.2 04q35.2 2013-05-01 2013-05-01 106479643 ENSG00000201085 NG_043127 HGNC:47136 +HGNC:47137 RNU6-174P RNA, U6 small nuclear 174, pseudogene pseudogene pseudogene Approved 12p13.32 12p13.32 2013-05-01 2013-05-01 106481231 ENSG00000222338 NG_045492 HGNC:47137 +HGNC:47138 RNU6-175P RNA, U6 small nuclear 175, pseudogene pseudogene pseudogene Approved 2q21.2 02q21.2 2013-05-01 2013-05-01 106480558 ENSG00000252705 NG_045150 HGNC:47138 +HGNC:47139 RNU6-176P RNA, U6 small nuclear 176, pseudogene pseudogene pseudogene Approved 1p35.3 01p35.3 2013-05-01 2013-05-01 106479644 ENSG00000253005 NG_043135 HGNC:47139 +HGNC:47140 RNU6-177P RNA, U6 small nuclear 177, pseudogene pseudogene pseudogene Approved 7q32.1 07q32.1 2013-05-01 2013-05-01 106481232 ENSG00000223189 NG_043569 HGNC:47140 +HGNC:47141 RNU6-178P RNA, U6 small nuclear 178, pseudogene pseudogene pseudogene Approved 8p21.1 08p21.1 2013-05-01 2013-05-01 106479645 ENSG00000207361 NG_043143 HGNC:47141 +HGNC:47142 RNU6-179P RNA, U6 small nuclear 179, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-05-01 2013-05-01 106479646 ENSG00000200220 NG_045337 HGNC:47142 +HGNC:47143 RNU6-180P RNA, U6 small nuclear 180, pseudogene pseudogene pseudogene Approved 1q42.13 01q42.13 2013-05-01 2013-05-01 106481233 ENSG00000252506 NG_043577 HGNC:47143 +HGNC:47144 RNU6-181P RNA, U6 small nuclear 181, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 2013-05-01 2013-05-01 106480559 ENSG00000200095 NG_044284 HGNC:47144 +HGNC:47145 RNU6-182P RNA, U6 small nuclear 182, pseudogene pseudogene pseudogene Approved 2q31.1 02q31.1 2013-05-01 2013-05-01 106479647 ENSG00000252779 NG_011781 HGNC:47145 +HGNC:47146 RNU6-183P RNA, U6 small nuclear 183, pseudogene pseudogene pseudogene Approved 5q14.1 05q14.1 2013-05-01 2013-05-01 106481234 ENSG00000200331 NG_043587 HGNC:47146 +HGNC:47147 RNU6-184P RNA, U6 small nuclear 184, pseudogene pseudogene pseudogene Approved Yq11.221 Yq11.221 2013-05-01 2013-05-01 106479648 ENSG00000252323 NG_043167 HGNC:47147 +HGNC:47148 RNU6-185P RNA, U6 small nuclear 185, pseudogene pseudogene pseudogene Approved 15q25.3 15q25.3 2013-05-01 2013-05-01 106481235 ENSG00000207150 NG_043596 HGNC:47148 +HGNC:47150 RNU6-187P RNA, U6 small nuclear 187, pseudogene pseudogene pseudogene Approved 2q31.1 02q31.1 2013-05-01 2013-05-01 106481880 ENSG00000206866 NG_044622 HGNC:47150 +HGNC:47151 RNU6-188P RNA, U6 small nuclear 188, pseudogene pseudogene pseudogene Approved 15q15.1 15q15.1 2013-05-01 2013-05-01 106479649 ENSG00000201077 NG_045352 HGNC:47151 +HGNC:47152 RNU6-189P RNA, U6 small nuclear 189, pseudogene pseudogene pseudogene Approved 14q21.3 14q21.3 2013-05-01 2013-05-01 106479650 ENSG00000251929 NG_043182 HGNC:47152 +HGNC:47153 RNU6-190P RNA, U6 small nuclear 190, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-05-01 2013-05-01 106481236 ENSG00000206881 NG_043603 HGNC:47153 +HGNC:47154 RNU6-191P RNA, U6 small nuclear 191, pseudogene pseudogene pseudogene Approved 4q13.1 04q13.1 2013-05-01 2013-05-01 106479651 ENSG00000252104 NG_045356 HGNC:47154 +HGNC:47155 RNU6-192P RNA, U6 small nuclear 192, pseudogene pseudogene pseudogene Approved 20p12.1 20p12.1 2013-05-01 2013-05-01 106481237 ENSG00000212555 NG_043610 HGNC:47155 +HGNC:47156 RNU6-193P RNA, U6 small nuclear 193, pseudogene pseudogene pseudogene Approved 10p11.21 10p11.21 2013-05-01 2013-05-01 106480560 ENSG00000222909 NG_044293 HGNC:47156 +HGNC:47157 RNU6-194P RNA, U6 small nuclear 194, pseudogene pseudogene pseudogene Approved 6q22.31 06q22.31 2013-05-01 2013-05-01 106479652 ENSG00000200732 NG_043200 HGNC:47157 +HGNC:47158 RNU6-195P RNA, U6 small nuclear 195, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 2013-05-01 2013-05-01 106479653 ENSG00000223284 NG_027800 HGNC:47158 +HGNC:47159 RNU6-196P RNA, U6 small nuclear 196, pseudogene pseudogene pseudogene Approved 16p12.2 16p12.2 2013-05-01 2013-05-01 106481238 ENSG00000207042 NG_045510 HGNC:47159 +HGNC:47160 RNU6-197P RNA, U6 small nuclear 197, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-05-01 2013-05-01 106479654 ENSG00000252489 NG_043218 HGNC:47160 +HGNC:47161 RNU6-198P RNA, U6 small nuclear 198, pseudogene pseudogene pseudogene Approved 2p22.1 02p22.1 2013-05-01 2013-05-01 106481239 ENSG00000206985 NG_045078 HGNC:47161 +HGNC:47162 RNU6-199P RNA, U6 small nuclear 199, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 2013-05-01 2013-05-01 106481881 ENSG00000199824 NG_029908 HGNC:47162 +HGNC:47163 RNU6-200P RNA, U6 small nuclear 200, pseudogene pseudogene pseudogene Approved 6q22.32 06q22.32 2013-05-01 2013-05-01 106479655 ENSG00000201613 NG_043229 HGNC:47163 +HGNC:47164 RNU6-201P RNA, U6 small nuclear 201, pseudogene pseudogene pseudogene Approved 22q12.3 22q12.3 2013-05-01 2013-05-01 106481240 ENSG00000252909 NG_034067 HGNC:47164 +HGNC:47165 RNU6-202P RNA, U6 small nuclear 202, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 2013-05-01 2013-05-01 106479656 ENSG00000251807 NG_016754 HGNC:47165 +HGNC:47166 RNU6-203P RNA, U6 small nuclear 203, pseudogene pseudogene pseudogene Approved Xq26.2 Xq26.2 2013-05-01 2013-05-01 106479657 ENSG00000206765 NG_043249 HGNC:47166 +HGNC:47167 RNU6-204P RNA, U6 small nuclear 204, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 2013-05-01 2013-05-01 106481241 ENSG00000199335 NG_045519 HGNC:47167 +HGNC:47168 RNU6-205P RNA, U6 small nuclear 205, pseudogene pseudogene pseudogene Approved 4q25 04q25 2013-05-01 2013-05-01 106633815 ENSG00000212160 NG_042885 HGNC:47168 +HGNC:47169 RNU6-206P RNA, U6 small nuclear 206, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-05-01 2013-05-01 106481882 ENSG00000206843 NG_044638 HGNC:47169 +HGNC:47170 RNU6-207P RNA, U6 small nuclear 207, pseudogene pseudogene pseudogene Approved Xq22.3 Xq22.3 2013-05-01 2013-05-01 106481766 ENSG00000206864 NG_012566 HGNC:47170 +HGNC:47171 RNU6-208P RNA, U6 small nuclear 208, pseudogene pseudogene pseudogene Approved 16q22.2 16q22.2 2013-05-01 2013-05-01 106479658 ENSG00000199301 NG_045376 HGNC:47171 +HGNC:47172 RNU6-209P RNA, U6 small nuclear 209, pseudogene pseudogene pseudogene Approved 5q34 05q34 2013-05-01 2013-05-01 106481242 ENSG00000206845 NG_043644 HGNC:47172 +HGNC:47173 RNU6-210P RNA, U6 small nuclear 210, pseudogene pseudogene pseudogene Approved 1p22.1 01p22.1 2013-05-01 2013-05-01 106479659 ENSG00000252752 NG_043269 HGNC:47173 +HGNC:47174 RNU6-211P RNA, U6 small nuclear 211, pseudogene pseudogene pseudogene Approved 5q14.1 05q14.1 2013-05-01 2013-05-01 106479660 ENSG00000206774 NG_043278 HGNC:47174 +HGNC:47175 RNU6-212P RNA, U6 small nuclear 212, pseudogene pseudogene pseudogene Approved 15q22.2 15q22.2 2013-05-01 2013-05-01 106481243 ENSG00000199512 NG_045527 HGNC:47175 +HGNC:47176 RNU6-213P RNA, U6 small nuclear 213, pseudogene pseudogene pseudogene Approved 16p13.11 16p13.11 RNU6-1033P RNA, U6 small nuclear 1033, pseudogene 2013-05-01 2016-02-10 106481244 ENSG00000206778 NG_045530 HGNC:47176 +HGNC:47177 RNU6-214P RNA, U6 small nuclear 214, pseudogene pseudogene pseudogene Approved 6q22.31 06q22.31 2013-05-01 2013-05-01 106479661 ENSG00000206857 NG_043288 HGNC:47177 +HGNC:47178 RNU6-215P RNA, U6 small nuclear 215, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 2013-05-01 2013-05-01 106481245 ENSG00000202039 NG_045081 HGNC:47178 +HGNC:47179 RNU6-216P RNA, U6 small nuclear 216, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 2013-05-01 2013-05-01 106479662 ENSG00000200152 NG_043295 HGNC:47179 +HGNC:47180 RNU6-217P RNA, U6 small nuclear 217, pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 2013-05-01 2013-05-01 106481246 ENSG00000206891 NG_043674 HGNC:47180 +HGNC:47181 RNU6-218P RNA, U6 small nuclear 218, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 2013-05-01 2013-05-01 106479663 ENSG00000252929 NG_043302 HGNC:47181 +HGNC:47182 RNU6-219P RNA, U6 small nuclear 219, pseudogene pseudogene pseudogene Approved 18q21.32 18q21.32 2013-05-01 2013-05-01 106479664 ENSG00000201598 NG_043311 HGNC:47182 +HGNC:47183 RNU6-220P RNA, U6 small nuclear 220, pseudogene pseudogene pseudogene Approved 8q24.3 08q24.3 2013-05-01 2013-05-01 106481247 ENSG00000212221 NG_043680 HGNC:47183 +HGNC:47184 RNU6-221P RNA, U6 small nuclear 221, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 2013-05-01 2013-05-01 106480561 ENSG00000238493 NG_045152 HGNC:47184 +HGNC:47185 RNU6-222P RNA, U6 small nuclear 222, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 2013-05-01 2013-05-01 106479665 ENSG00000199308 NG_012802 HGNC:47185 +HGNC:47186 RNU6-223P RNA, U6 small nuclear 223, pseudogene pseudogene pseudogene Approved 7q33 07q33 2013-05-01 2013-05-01 106481248 ENSG00000199700 NG_043691 HGNC:47186 +HGNC:47187 RNU6-224P RNA, U6 small nuclear 224, pseudogene pseudogene pseudogene Approved 4q28.3 04q28.3 2013-05-01 2013-05-01 106479666 ENSG00000206782 NG_043325 HGNC:47187 +HGNC:47188 RNU6-225P RNA, U6 small nuclear 225, pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 2013-05-01 2013-05-01 106479667 ENSG00000207343 NG_043336 HGNC:47188 +HGNC:47189 RNU6-226P RNA, U6 small nuclear 226, pseudogene pseudogene pseudogene Approved 5q35.2 05q35.2 2013-05-01 2013-05-01 106481249 ENSG00000200648 NG_043697 HGNC:47189 +HGNC:47190 RNU6-227P RNA, U6 small nuclear 227, pseudogene pseudogene pseudogene Approved 17q25.1 17q25.1 2013-05-01 2013-05-01 106481883 ENSG00000199735 NG_044644 HGNC:47190 +HGNC:47191 RNU6-228P RNA, U6 small nuclear 228, pseudogene pseudogene pseudogene Approved 20p12.1 20p12.1 2013-05-01 2013-05-01 106479668 ENSG00000199570 NG_045408 HGNC:47191 +HGNC:47192 RNU6-229P RNA, U6 small nuclear 229, pseudogene pseudogene pseudogene Approved 7q11.22 07q11.22 2013-05-01 2013-05-01 106481250 ENSG00000252423 NG_043704 HGNC:47192 +HGNC:47193 RNU6-230P RNA, U6 small nuclear 230, pseudogene pseudogene pseudogene Approved 3q21.2 03q21.2 2013-05-01 2013-05-01 106479669 ENSG00000199327 NG_045413 HGNC:47193 +HGNC:47194 RNU6-231P RNA, U6 small nuclear 231, pseudogene pseudogene pseudogene Approved 15q25.3 15q25.3 2013-05-01 2013-05-01 106481251 ENSG00000252931 NG_043709 HGNC:47194 +HGNC:47195 RNU6-232P RNA, U6 small nuclear 232, pseudogene pseudogene pseudogene Approved 3q21.2 03q21.2 2013-05-01 2013-05-01 106480388 ENSG00000252953 NG_042932 HGNC:47195 +HGNC:47196 RNU6-233P RNA, U6 small nuclear 233, pseudogene pseudogene pseudogene Approved 17q12 17q12 2013-05-01 2013-05-01 106480562 ENSG00000222777 NG_065324 HGNC:47196 +HGNC:47197 RNU6-234P RNA, U6 small nuclear 234, pseudogene pseudogene pseudogene Approved 2q37.3 02q37.3 2013-05-01 2013-05-01 106479670 ENSG00000202099 NG_045043 HGNC:47197 +HGNC:47198 RNU6-235P RNA, U6 small nuclear 235, pseudogene pseudogene pseudogene Approved 3p22.2 03p22.2 2013-05-01 2013-05-01 106479671 ENSG00000199514 NG_043369 HGNC:47198 +HGNC:47199 RNU6-236P RNA, U6 small nuclear 236, pseudogene pseudogene pseudogene Approved 5q31.2 05q31.2 2013-05-01 2013-05-01 106481252 ENSG00000200756 NG_043718 HGNC:47199 +HGNC:47200 RNU6-237P RNA, U6 small nuclear 237, pseudogene pseudogene pseudogene Approved 16q23.1 16q23.1 2013-05-01 2013-05-01 106479672 ENSG00000251794 NG_043373 HGNC:47200 +HGNC:47201 RNU6-238P RNA, U6 small nuclear 238, pseudogene pseudogene pseudogene Approved 12q13.12 12q13.12 2013-05-01 2013-05-01 106481253 ENSG00000200183 NG_045552 HGNC:47201 +HGNC:47202 RNU6-239P RNA, U6 small nuclear 239, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-05-01 2013-05-01 106480563 ENSG00000212292 NG_044318 HGNC:47202 +HGNC:47203 RNU6-240P RNA, U6 small nuclear 240, pseudogene pseudogene pseudogene Approved 14q24.3 14q24.3 2013-05-01 2013-05-01 106479673 ENSG00000251907 NG_043380 HGNC:47203 +HGNC:47204 RNU6-241P RNA, U6 small nuclear 241, pseudogene pseudogene pseudogene Approved 7p12.3 07p12.3 2013-05-01 2013-05-01 106479674 ENSG00000212450 NG_043389 HGNC:47204 +HGNC:47205 RNU6-242P RNA, U6 small nuclear 242, pseudogene pseudogene pseudogene Approved 2p21 02p21 2013-05-01 2013-05-01 106481254 ENSG00000207087 NG_043735 HGNC:47205 +HGNC:47206 RNU6-243P RNA, U6 small nuclear 243, pseudogene pseudogene pseudogene Approved 3p22.3 03p22.3 2013-05-01 2013-05-01 106479675 ENSG00000212442 NG_045434 HGNC:47206 +HGNC:47207 RNU6-244P RNA, U6 small nuclear 244, pseudogene pseudogene pseudogene Approved 14q32.31 14q32.31 2013-05-01 2013-05-01 106866981 ENSG00000212330 NG_042851 HGNC:47207 +HGNC:47208 RNU6-245P RNA, U6 small nuclear 245, pseudogene pseudogene pseudogene Approved Xq12 Xq12 2013-05-01 2013-05-01 106481255 ENSG00000206747 NG_043741 HGNC:47208 +HGNC:47209 RNU6-246P RNA, U6 small nuclear 246, pseudogene pseudogene pseudogene Approved 9p22.3 09p22.3 2013-05-01 2013-05-01 106481884 ENSG00000207433 NG_045930 HGNC:47209 +HGNC:47210 RNU6-247P RNA, U6 small nuclear 247, pseudogene pseudogene pseudogene Approved 12q22 12q22 2013-05-01 2013-05-01 106479676 ENSG00000199506 NG_051252 HGNC:47210 +HGNC:47211 RNU6-248P RNA, U6 small nuclear 248, pseudogene pseudogene pseudogene Approved 6q14.1 06q14.1 2013-05-01 2013-05-01 106481256 ENSG00000222652 NG_043749 HGNC:47211 +HGNC:47212 RNU6-249P RNA, U6 small nuclear 249, pseudogene pseudogene pseudogene Approved 12q12 12q12 2013-05-01 2013-05-01 106479677 ENSG00000199886 NG_045442 HGNC:47212 +HGNC:47213 RNU6-250P RNA, U6 small nuclear 250, pseudogene pseudogene pseudogene Approved 6p21.2 06p21.2 2013-05-01 2013-05-01 106479678 ENSG00000252767 NG_043423 HGNC:47213 +HGNC:47214 RNU6-251P RNA, U6 small nuclear 251, pseudogene pseudogene pseudogene Approved 12p12.3 12p12.3 2013-05-01 2013-05-01 106481257 ENSG00000200105 NG_041808 HGNC:47214 +HGNC:47215 RNU6-252P RNA, U6 small nuclear 252, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2013-05-01 2013-05-01 106480564 ENSG00000200102 NG_044327 HGNC:47215 +HGNC:47216 RNU6-253P RNA, U6 small nuclear 253, pseudogene pseudogene pseudogene Approved 6q22.1 06q22.1 2013-05-01 2013-05-01 106480697 ENSG00000207461 NG_043383 HGNC:47216 +HGNC:47217 RNU6-254P RNA, U6 small nuclear 254, pseudogene pseudogene pseudogene Approved 12p12.3 12p12.3 2013-05-01 2013-05-01 106479679 ENSG00000200247 NG_043431 HGNC:47217 +HGNC:47218 RNU6-255P RNA, U6 small nuclear 255, pseudogene pseudogene pseudogene Approved Yq11.222 Yq11.222 2013-05-01 2013-05-01 106481258 ENSG00000252766 NG_045570 HGNC:47218 +HGNC:47219 RNU6-256P RNA, U6 small nuclear 256, pseudogene pseudogene pseudogene Approved 11q24.1 11q24.1 2013-05-01 2013-05-01 106479680 ENSG00000252556 NG_043438 HGNC:47219 +HGNC:47220 RNU6-257P RNA, U6 small nuclear 257, pseudogene pseudogene pseudogene Approved 16q12.1 16q12.1 2013-05-01 2013-05-01 106479681 ENSG00000222170 NG_043446 HGNC:47220 +HGNC:47221 RNU6-258P RNA, U6 small nuclear 258, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-05-01 2013-05-01 106481259 ENSG00000212186 NG_029768 HGNC:47221 +HGNC:47222 RNU6-259P RNA, U6 small nuclear 259, pseudogene pseudogene pseudogene Approved 2q14.3 02q14.3 2013-05-01 2013-05-01 106481260 ENSG00000206726 NG_043780 HGNC:47222 +HGNC:47223 RNU6-260P RNA, U6 small nuclear 260, pseudogene pseudogene pseudogene Approved 5q33.3 05q33.3 2013-05-01 2013-05-01 106479682 ENSG00000206819 NG_043456 HGNC:47223 +HGNC:47224 RNU6-261P RNA, U6 small nuclear 261, pseudogene pseudogene pseudogene Approved 6q14.1 06q14.1 2013-05-01 2013-05-01 106481885 ENSG00000238697 NG_044658 HGNC:47224 +HGNC:47225 RNU6-262P RNA, U6 small nuclear 262, pseudogene pseudogene pseudogene Approved 11q23.3 11q23.3 2013-05-01 2013-05-01 106481261 ENSG00000222249 NG_016808 HGNC:47225 +HGNC:47226 RNU6-263P RNA, U6 small nuclear 263, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-05-01 2013-05-01 106479683 ENSG00000200681 NG_043461 HGNC:47226 +HGNC:47227 RNU6-264P RNA, U6 small nuclear 264, pseudogene pseudogene pseudogene Approved 9p22.1 09p22.1 2013-05-01 2013-05-01 106481262 ENSG00000252943 NG_043796 HGNC:47227 +HGNC:47229 RNU6-266P RNA, U6 small nuclear 266, pseudogene pseudogene pseudogene Approved Xp22.11 Xp22.11 2013-05-01 2013-05-01 106479684 ENSG00000201095 NG_043469 HGNC:47229 +HGNC:47230 RNU6-267P RNA, U6 small nuclear 267, pseudogene pseudogene pseudogene Approved 7q35 07q35 2013-05-01 2013-05-01 106480565 ENSG00000252523 NG_065172 HGNC:47230 +HGNC:47231 RNU6-268P RNA, U6 small nuclear 268, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2013-05-01 2013-05-01 106479685 ENSG00000201044 NG_045059 HGNC:47231 +HGNC:47232 RNU6-269P RNA, U6 small nuclear 269, pseudogene pseudogene pseudogene Approved 16q21 16q21 2013-05-01 2013-05-01 106481263 ENSG00000212379 NG_043804 HGNC:47232 +HGNC:47233 RNU6-270P RNA, U6 small nuclear 270, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 2013-05-01 2013-05-01 106479686 ENSG00000201001 NG_043481 HGNC:47233 +HGNC:47234 RNU6-271P RNA, U6 small nuclear 271, pseudogene pseudogene pseudogene Approved 10q24.1 10q24.1 2013-05-01 2013-05-01 106481264 ENSG00000200728 NG_043812 HGNC:47234 +HGNC:47235 RNU6-272P RNA, U6 small nuclear 272, pseudogene pseudogene pseudogene Approved 5q11.2 05q11.2 2013-05-01 2013-05-01 106479687 ENSG00000222960 NG_045469 HGNC:47235 +HGNC:47236 RNU6-273P RNA, U6 small nuclear 273, pseudogene pseudogene pseudogene Approved 14q13.3 14q13.3 2013-05-01 2013-05-01 106480566 ENSG00000252746 NG_044345 HGNC:47236 +HGNC:47237 RNU6-274P RNA, U6 small nuclear 274, pseudogene pseudogene pseudogene Approved 7q21.13 07q21.13 2013-05-01 2013-05-01 106479688 ENSG00000239075 NG_045473 HGNC:47237 +HGNC:47238 RNU6-275P RNA, U6 small nuclear 275, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 2013-05-01 2013-05-01 106481265 ENSG00000201780 NG_043821 HGNC:47238 +HGNC:47239 RNU6-276P RNA, U6 small nuclear 276, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-05-01 2013-05-01 106479689 ENSG00000251923 NG_043504 HGNC:47239 +HGNC:47240 RNU6-277P RNA, U6 small nuclear 277, pseudogene pseudogene pseudogene Approved 11q22.3 11q22.3 2013-05-01 2013-05-01 106481266 ENSG00000252081 NG_043830 HGNC:47240 +HGNC:47241 RNU6-278P RNA, U6 small nuclear 278, pseudogene pseudogene pseudogene Approved 20p12.1 20p12.1 2013-05-01 2013-05-01 106481767 ENSG00000212247 NG_045559 HGNC:47241 +HGNC:47242 RNU6-279P RNA, U6 small nuclear 279, pseudogene pseudogene pseudogene Approved 12q14.1 12q14.1 2013-05-01 2013-05-01 106479690 ENSG00000212599 NG_043513 HGNC:47242 +HGNC:47243 RNU6-280P RNA, U6 small nuclear 280, pseudogene pseudogene pseudogene Approved 6q12 06q12 RNU6-1221P RNA, U6 small nuclear 1221, pseudogene 2013-05-01 2015-10-14 106481886 ENSG00000201015 NG_044665 HGNC:47243 +HGNC:47244 RNU6-281P RNA, U6 small nuclear 281, pseudogene pseudogene pseudogene Approved 3p13 03p13 2013-05-01 2013-05-01 106481267 ENSG00000206939 NG_043838 HGNC:47244 +HGNC:47245 RNU6-282P RNA, U6 small nuclear 282, pseudogene pseudogene pseudogene Approved 2p16.3 02p16.3 2013-05-01 2013-05-01 106479691 ENSG00000202227 NG_045066 HGNC:47245 +HGNC:47246 RNU6-283P RNA, U6 small nuclear 283, pseudogene pseudogene pseudogene Approved 6p21.33 06p21.33 RNU6-683P RNA, U6 small nuclear 683, pseudogene 2013-05-01 2016-02-10 106479692 ENSG00000201658 NG_043530 HGNC:47246 +HGNC:47247 RNU6-284P RNA, U6 small nuclear 284, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 2013-05-01 2013-05-01 106481268 ENSG00000223037 NG_043845 HGNC:47247 +HGNC:47248 RNU6-285P RNA, U6 small nuclear 285, pseudogene pseudogene pseudogene Approved 8q21.11 08q21.11 2013-05-01 2013-05-01 106479693 ENSG00000222488 NG_029121 HGNC:47248 +HGNC:47249 RNU6-286P RNA, U6 small nuclear 286, pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 2013-05-01 2013-05-01 106480567 ENSG00000207476 NG_045810 HGNC:47249 +HGNC:47250 RNU6-287P RNA, U6 small nuclear 287, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-05-01 2013-05-01 106481269 ENSG00000252039 NG_045602 HGNC:47250 +HGNC:47251 RNU6-288P RNA, U6 small nuclear 288, pseudogene pseudogene pseudogene Approved 17q23.3 17q23.3 2013-05-01 2013-05-01 106479694 ENSG00000200560 NG_043547 HGNC:47251 +HGNC:47252 RNU6-289P RNA, U6 small nuclear 289, pseudogene pseudogene pseudogene Approved 4q25 04q25 2013-05-01 2013-05-01 106479695 ENSG00000200963 NG_043555 HGNC:47252 +HGNC:47253 RNU6-290P RNA, U6 small nuclear 290, pseudogene pseudogene pseudogene Approved 1q24.3 01q24.3 2013-05-01 2013-05-01 106481270 ENSG00000202082 NG_043856 HGNC:47253 +HGNC:47254 RNU6-291P RNA, U6 small nuclear 291, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 2013-05-01 2013-05-01 106479696 ENSG00000207451 NG_043565 HGNC:47254 +HGNC:47256 RNU6-293P RNA, U6 small nuclear 293, pseudogene pseudogene pseudogene Approved 6q25.3 06q25.3 2013-05-01 2013-05-01 106481271 ENSG00000223191 NG_045613 HGNC:47256 +HGNC:47257 RNU6-294P RNA, U6 small nuclear 294, pseudogene pseudogene pseudogene Approved 5q12.3 05q12.3 2013-05-01 2013-05-01 106479697 ENSG00000201869 NG_045495 HGNC:47257 +HGNC:47258 RNU6-295P RNA, U6 small nuclear 295, pseudogene pseudogene pseudogene Approved 8q11.21 08q11.21 2013-05-01 2013-05-01 106481272 ENSG00000252710 NG_043868 HGNC:47258 +HGNC:47259 RNU6-296P RNA, U6 small nuclear 296, pseudogene pseudogene pseudogene Approved 7q31.32 07q31.32 2013-05-01 2013-05-01 106479698 ENSG00000207338 NG_045498 HGNC:47259 +HGNC:47260 RNU6-297P RNA, U6 small nuclear 297, pseudogene pseudogene pseudogene Approved 14q21.3 14q21.3 2013-05-01 2013-05-01 106479699 ENSG00000207366 NG_043592 HGNC:47260 +HGNC:47261 RNU6-298P RNA, U6 small nuclear 298, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-05-01 2013-05-01 106481273 ENSG00000212190 NG_045616 HGNC:47261 +HGNC:47262 RNU6-299P RNA, U6 small nuclear 299, pseudogene pseudogene pseudogene Approved 5q11.2 05q11.2 2013-05-01 2013-05-01 106480389 ENSG00000253032 NG_042941 HGNC:47262 +HGNC:47263 RNU6-300P RNA, U6 small nuclear 300, pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 2013-05-01 2013-05-01 106479700 ENSG00000238616 NG_043600 HGNC:47263 +HGNC:47264 RNU6-301P RNA, U6 small nuclear 301, pseudogene pseudogene pseudogene Approved 14q22.1 14q22.1 2013-05-01 2013-05-01 106481274 ENSG00000207004 NG_045618 HGNC:47264 +HGNC:47265 RNU6-302P RNA, U6 small nuclear 302, pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 2013-05-01 2013-05-01 106479701 ENSG00000202119 NG_045507 HGNC:47265 +HGNC:47266 RNU6-303P RNA, U6 small nuclear 303, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2013-05-01 2013-05-01 106479702 ENSG00000252900 NG_043613 HGNC:47266 +HGNC:47267 RNU6-304P RNA, U6 small nuclear 304, pseudogene pseudogene pseudogene Approved 1p36.23 01p36.23 2013-05-01 2013-05-01 106481275 ENSG00000201725 NG_043891 HGNC:47267 +HGNC:47269 RNU6-306P RNA, U6 small nuclear 306, pseudogene pseudogene pseudogene Approved 10p12.31 10p12.31 2013-05-01 2013-05-01 106479703 ENSG00000207347 NG_043621 HGNC:47269 +HGNC:47270 RNU6-307P RNA, U6 small nuclear 307, pseudogene pseudogene pseudogene Approved 1q25.1 01q25.1 2013-05-01 2013-05-01 106481276 ENSG00000252552 NG_043900 HGNC:47270 +HGNC:47271 RNU6-308P RNA, U6 small nuclear 308, pseudogene pseudogene pseudogene Approved 5q15 05q15 2013-05-01 2013-05-01 106480568 ENSG00000212259 NG_023414 HGNC:47271 +HGNC:47272 RNU6-309P RNA, U6 small nuclear 309, pseudogene pseudogene pseudogene Approved Xq22.3 Xq22.3 2013-05-01 2013-05-01 106479704 ENSG00000201443 NG_043627 HGNC:47272 +HGNC:47273 RNU6-310P RNA, U6 small nuclear 310, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-05-01 2013-05-01 106481277 ENSG00000207385 NG_045625 HGNC:47273 +HGNC:47274 RNU6-311P RNA, U6 small nuclear 311, pseudogene pseudogene pseudogene Approved 11q14.1 11q14.1 2013-05-01 2013-05-01 106479705 ENSG00000252033 NG_043635 HGNC:47274 +HGNC:47275 RNU6-312P RNA, U6 small nuclear 312, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-05-01 2013-05-01 106479706 ENSG00000201499 NG_045523 HGNC:47275 +HGNC:47276 RNU6-313P RNA, U6 small nuclear 313, pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 2013-05-01 2013-05-01 106480569 ENSG00000252126 NG_045819 HGNC:47276 +HGNC:47277 RNU6-314P RNA, U6 small nuclear 314, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-05-01 2013-05-01 106481278 ENSG00000252383 NG_047111 HGNC:47277 +HGNC:47278 RNU6-315P RNA, U6 small nuclear 315, pseudogene pseudogene pseudogene Approved 3q26.2 03q26.2 2013-05-01 2013-05-01 106479707 ENSG00000199536 NG_043649 HGNC:47278 +HGNC:47279 RNU6-316P RNA, U6 small nuclear 316, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 2013-05-01 2013-05-01 106481279 ENSG00000212329 NG_045633 HGNC:47279 +HGNC:47280 RNU6-317P RNA, U6 small nuclear 317, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 2013-05-01 2013-05-01 106479708 ENSG00000206758 NG_013003 HGNC:47280 +HGNC:47281 RNU6-318P RNA, U6 small nuclear 318, pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 RNU6-1295P RNA, U6 small nuclear 1295, pseudogene 2013-05-01 2017-01-12 106481589 ENSG00000207010 NG_044337 HGNC:47281 +HGNC:47282 RNU6-319P RNA, U6 small nuclear 319, pseudogene pseudogene pseudogene Approved 9p22.3 09p22.3 2013-05-01 2013-05-01 106481280 ENSG00000251834 NG_043922 HGNC:47282 +HGNC:47283 RNU6-320P RNA, U6 small nuclear 320, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 2013-05-01 2013-05-01 106480570 ENSG00000252320 NG_044376 HGNC:47283 +HGNC:47284 RNU6-321P RNA, U6 small nuclear 321, pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 2013-05-01 2013-05-01 106479709 ENSG00000222844 NG_045532 HGNC:47284 +HGNC:47285 RNU6-322P RNA, U6 small nuclear 322, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 2013-05-01 2013-05-01 107105253 ENSG00000251819 NG_046571 HGNC:47285 +HGNC:47286 RNU6-323P RNA, U6 small nuclear 323, pseudogene pseudogene pseudogene Approved 8p11.23 08p11.23 2013-05-01 2015-02-04 106481281 ENSG00000253739 NG_045642 HGNC:47286 +HGNC:47287 RNU6-324P RNA, U6 small nuclear 324, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 2013-05-01 2013-05-01 106479710 ENSG00000200827 NG_045535 HGNC:47287 +HGNC:47288 RNU6-325P RNA, U6 small nuclear 325, pseudogene pseudogene pseudogene Approved 10q23.1 10q23.1 2013-05-01 2013-05-01 106480390 ENSG00000223064 NG_042949 HGNC:47288 +HGNC:47289 RNU6-326P RNA, U6 small nuclear 326, pseudogene pseudogene pseudogene Approved 7p12.3 07p12.3 2013-05-01 2013-05-01 106481282 ENSG00000202350 NG_043936 HGNC:47289 +HGNC:47290 RNU6-327P RNA, U6 small nuclear 327, pseudogene pseudogene pseudogene Approved 12q24.33 12q24.33 2013-05-01 2013-05-01 106481887 ENSG00000252079 NG_044670 HGNC:47290 +HGNC:47291 RNU6-328P RNA, U6 small nuclear 328, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 2013-05-01 2013-05-01 106479711 ENSG00000212189 NG_011881 HGNC:47291 +HGNC:47292 RNU6-329P RNA, U6 small nuclear 329, pseudogene pseudogene pseudogene Approved 9q31.1 09q31.1 2013-05-01 2013-05-01 106479712 ENSG00000238882 NG_043686 HGNC:47292 +HGNC:47293 RNU6-330P RNA, U6 small nuclear 330, pseudogene pseudogene pseudogene Approved Xq13.2 Xq13.2 2013-05-01 2013-05-01 106481283 ENSG00000199885 NG_043944 HGNC:47293 +HGNC:47294 RNU6-331P RNA, U6 small nuclear 331, pseudogene pseudogene pseudogene Approved 22q12.2 22q12.2 2013-05-01 2013-05-01 106479713 ENSG00000207455 NG_043695 HGNC:47294 +HGNC:47295 RNU6-332P RNA, U6 small nuclear 332, pseudogene pseudogene pseudogene Approved Xq21.32 Xq21.32 2013-05-01 2013-05-01 106481284 ENSG00000212495 NG_043953 HGNC:47295 +HGNC:47296 RNU6-333P RNA, U6 small nuclear 333, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 2013-05-01 2013-05-01 106480571 ENSG00000238669 NG_044386 HGNC:47296 +HGNC:47297 RNU6-334P RNA, U6 small nuclear 334, pseudogene pseudogene pseudogene Approved 5q21.2 05q21.2 2013-05-01 2013-05-01 106479714 ENSG00000252881 NG_043700 HGNC:47297 +HGNC:47298 RNU6-335P RNA, U6 small nuclear 335, pseudogene pseudogene pseudogene Approved 4q35.1 04q35.1 2013-05-01 2013-05-01 106479715 ENSG00000201433 NG_043707 HGNC:47298 +HGNC:47299 RNU6-336P RNA, U6 small nuclear 336, pseudogene pseudogene pseudogene Approved 8p21.3 08p21.3 2013-05-01 2013-05-01 106481285 ENSG00000201761 NG_054890 HGNC:47299 +HGNC:47300 RNU6-337P RNA, U6 small nuclear 337, pseudogene pseudogene pseudogene Approved 7q21.11 07q21.11 2013-05-01 2013-05-01 106479716 ENSG00000212545 NG_045090 HGNC:47300 +HGNC:47301 RNU6-338P RNA, U6 small nuclear 338, pseudogene pseudogene pseudogene Approved 22q12.2 22q12.2 2013-05-01 2013-05-01 106481286 ENSG00000206615 NG_043966 HGNC:47301 +HGNC:47302 RNU6-339P RNA, U6 small nuclear 339, pseudogene pseudogene pseudogene Approved 15q25.3 15q25.3 2013-05-01 2013-05-01 106481888 ENSG00000207037 NG_044678 HGNC:47302 +HGNC:47303 RNU6-340P RNA, U6 small nuclear 340, pseudogene pseudogene pseudogene Approved 18p11.32 18p11.32 2013-05-01 2013-05-01 106479717 ENSG00000200875 NG_043723 HGNC:47303 +HGNC:47304 RNU6-341P RNA, U6 small nuclear 341, pseudogene pseudogene pseudogene Approved 14q23.1 14q23.1 2013-05-01 2013-05-01 106481287 ENSG00000252782 NG_045663 HGNC:47304 +HGNC:47305 RNU6-342P RNA, U6 small nuclear 342, pseudogene pseudogene pseudogene Approved 3p24.1 03p24.1 2013-05-01 2013-05-01 106479718 ENSG00000207251 NG_045553 HGNC:47305 +HGNC:47306 RNU6-343P RNA, U6 small nuclear 343, pseudogene pseudogene pseudogene Approved 12q13.3 12q13.3 2013-05-01 2013-05-01 106479719 ENSG00000201579 NG_045556 HGNC:47306 +HGNC:47307 RNU6-344P RNA, U6 small nuclear 344, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106480572 ENSG00000252444 NG_044395 HGNC:47307 +HGNC:47308 RNU6-345P RNA, U6 small nuclear 345, pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 2013-05-01 2013-05-01 106481288 ENSG00000252810 NG_043979 HGNC:47308 +HGNC:47309 RNU6-346P RNA, U6 small nuclear 346, pseudogene pseudogene pseudogene Approved 18q23 18q23 2013-05-01 2013-05-01 106481768 ENSG00000252097 NG_045563 HGNC:47309 +HGNC:47310 RNU6-347P RNA, U6 small nuclear 347, pseudogene pseudogene pseudogene Approved 20q13.2 20q13.2 2013-05-01 2013-05-01 106479720 ENSG00000252467 NG_043745 HGNC:47310 +HGNC:47311 RNU6-348P RNA, U6 small nuclear 348, pseudogene pseudogene pseudogene Approved 3q26.31 03q26.31 2013-05-01 2013-05-01 106481289 ENSG00000207114 NG_043988 HGNC:47311 +HGNC:47312 RNU6-349P RNA, U6 small nuclear 349, pseudogene pseudogene pseudogene Approved 18p11.31 18p11.31 2013-05-01 2013-05-01 106479721 ENSG00000199272 NG_043754 HGNC:47312 +HGNC:47314 RNU6-351P RNA, U6 small nuclear 351, pseudogene pseudogene pseudogene Approved 4q24 04q24 2013-05-01 2013-05-01 106479722 ENSG00000251906 NG_045568 HGNC:47314 +HGNC:47315 RNU6-352P RNA, U6 small nuclear 352, pseudogene pseudogene pseudogene Approved 1p21.1 01p21.1 2013-05-01 2013-05-01 106480573 ENSG00000252717 NG_044403 HGNC:47315 +HGNC:47316 RNU6-353P RNA, U6 small nuclear 353, pseudogene pseudogene pseudogene Approved 15q15.3 15q15.3 2013-05-01 2013-05-01 106479723 ENSG00000201136 NG_045572 HGNC:47316 +HGNC:47317 RNU6-354P RNA, U6 small nuclear 354, pseudogene pseudogene pseudogene Approved 15q15.3 15q15.3 2013-05-01 2013-05-01 106481290 ENSG00000206589 NG_043991 HGNC:47317 +HGNC:47318 RNU6-355P RNA, U6 small nuclear 355, pseudogene pseudogene pseudogene Approved 16q24.3 16q24.3 2013-05-01 2013-05-01 106481889 ENSG00000222359 NG_045950 HGNC:47318 +HGNC:47319 RNU6-356P RNA, U6 small nuclear 356, pseudogene pseudogene pseudogene Approved 8p11.21 08p11.21 2013-05-01 2013-05-01 106479724 ENSG00000206867 NG_043775 HGNC:47319 +HGNC:47321 RNU6-358P RNA, U6 small nuclear 358, pseudogene pseudogene pseudogene Approved 5p13.3 05p13.3 2013-05-01 2013-05-01 106481291 ENSG00000252373 NG_043999 HGNC:47321 +HGNC:47322 RNU6-359P RNA, U6 small nuclear 359, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 2013-05-01 2013-05-01 106479725 ENSG00000202336 NG_043784 HGNC:47322 +HGNC:47323 RNU6-360P RNA, U6 small nuclear 360, pseudogene pseudogene pseudogene Approved 2q33.3 02q33.3 2013-05-01 2013-05-01 106479726 ENSG00000212246 NG_045578 HGNC:47323 +HGNC:47324 RNU6-361P RNA, U6 small nuclear 361, pseudogene pseudogene pseudogene Approved 12q24.11 12q24.11 2013-05-01 2013-05-01 106480574 ENSG00000201324 NG_045834 HGNC:47324 +HGNC:47325 RNU6-362P RNA, U6 small nuclear 362, pseudogene pseudogene pseudogene Approved 17q25.1 17q25.1 2013-05-01 2013-05-01 106481292 ENSG00000252545 NG_044008 HGNC:47325 +HGNC:47326 RNU6-363P RNA, U6 small nuclear 363, pseudogene pseudogene pseudogene Approved 5p13.3 05p13.3 2013-05-01 2013-05-01 106479727 ENSG00000199765 NG_043799 HGNC:47326 +HGNC:47327 RNU6-364P RNA, U6 small nuclear 364, pseudogene pseudogene pseudogene Approved 7q21.3 07q21.3 2013-05-01 2013-05-01 106481293 ENSG00000207115 NG_045121 HGNC:47327 +HGNC:47328 RNU6-365P RNA, U6 small nuclear 365, pseudogene pseudogene pseudogene Approved 11p12 11p12 2013-05-01 2013-05-01 106479728 ENSG00000252922 NG_043808 HGNC:47328 +HGNC:47329 RNU6-366P RNA, U6 small nuclear 366, pseudogene pseudogene pseudogene Approved 14q32.12 14q32.12 2013-05-01 2013-05-01 106481294 ENSG00000201097 NG_044025 HGNC:47329 +HGNC:47330 RNU6-367P RNA, U6 small nuclear 367, pseudogene pseudogene pseudogene Approved 3p21.32 03p21.32 2013-05-01 2013-05-01 106481890 ENSG00000252980 NG_044697 HGNC:47330 +HGNC:47331 RNU6-368P RNA, U6 small nuclear 368, pseudogene pseudogene pseudogene Approved 9q13 09q13 2013-05-01 2015-02-04 106479729 ENSG00000278551 NG_045586 HGNC:47331 +HGNC:47332 RNU6-369P RNA, U6 small nuclear 369, pseudogene pseudogene pseudogene Approved 1p34.1 01p34.1 2013-05-01 2013-05-01 106479730 ENSG00000199385 NG_043825 HGNC:47332 +HGNC:47333 RNU6-370P RNA, U6 small nuclear 370, pseudogene pseudogene pseudogene Approved 2p23.3 02p23.3 2013-05-01 2013-05-01 106481295 ENSG00000222940 NG_045123 HGNC:47333 +HGNC:47334 RNU6-371P RNA, U6 small nuclear 371, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-05-01 2013-05-01 106479731 ENSG00000201153 NG_045593 HGNC:47334 +HGNC:47336 RNU6-373P RNA, U6 small nuclear 373, pseudogene pseudogene pseudogene Approved 5q23.1 05q23.1 2013-05-01 2013-05-01 106480391 ENSG00000223179 NG_045263 HGNC:47336 +HGNC:47337 RNU6-374P RNA, U6 small nuclear 374, pseudogene pseudogene pseudogene Approved 5p14.1 05p14.1 2013-05-01 2013-05-01 106481296 ENSG00000201016 NG_044041 HGNC:47337 +HGNC:47338 RNU6-375P RNA, U6 small nuclear 375, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 2013-05-01 2013-05-01 106480575 ENSG00000252859 NG_009817 HGNC:47338 +HGNC:47339 RNU6-376P RNA, U6 small nuclear 376, pseudogene pseudogene pseudogene Approved 11q23.3 11q23.3 2013-05-01 2013-05-01 106479732 ENSG00000207462 NG_043841 HGNC:47339 +HGNC:47340 RNU6-377P RNA, U6 small nuclear 377, pseudogene pseudogene pseudogene Approved 3p25.2 03p25.2 2013-05-01 2013-05-01 106479733 ENSG00000251774 NG_045599 HGNC:47340 +HGNC:47341 RNU6-378P RNA, U6 small nuclear 378, pseudogene pseudogene pseudogene Approved 5p13.3 05p13.3 2013-05-01 2013-05-01 106481297 ENSG00000207052 NG_044050 HGNC:47341 +HGNC:47342 RNU6-379P RNA, U6 small nuclear 379, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 2013-05-01 2013-05-01 106479734 ENSG00000200683 NG_045604 HGNC:47342 +HGNC:47343 RNU6-380P RNA, U6 small nuclear 380, pseudogene pseudogene pseudogene Approved 15q25.1 15q25.1 2013-05-01 2013-05-01 106481298 ENSG00000222139 NG_044058 HGNC:47343 +HGNC:47344 RNU6-381P RNA, U6 small nuclear 381, pseudogene pseudogene pseudogene Approved 5p12 05p12 2013-05-01 2013-05-01 106480576 ENSG00000212561 NG_044429 HGNC:47344 +HGNC:47345 RNU6-382P RNA, U6 small nuclear 382, pseudogene pseudogene pseudogene Approved Xq27.3 Xq27.3 2013-05-01 2013-05-01 106479735 ENSG00000202051 NG_043858 HGNC:47345 +HGNC:47346 RNU6-383P RNA, U6 small nuclear 383, pseudogene pseudogene pseudogene Approved Xq28 Xq28 2013-05-01 2013-05-01 106479736 ENSG00000222796 NG_043864 HGNC:47346 +HGNC:47347 RNU6-384P RNA, U6 small nuclear 384, pseudogene pseudogene pseudogene Approved 20q11.21 20q11.21 2013-05-01 2013-05-01 106481299 ENSG00000201770 NG_044068 HGNC:47347 +HGNC:47349 RNU6-386P RNA, U6 small nuclear 386, pseudogene pseudogene pseudogene Approved 3p12.3 03p12.3 2013-05-01 2013-05-01 106481300 ENSG00000199520 NG_027734 HGNC:47349 +HGNC:47350 RNU6-387P RNA, U6 small nuclear 387, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-05-01 2013-05-01 106481891 ENSG00000223263 NG_044707 HGNC:47350 +HGNC:47351 RNU6-388P RNA, U6 small nuclear 388, pseudogene pseudogene pseudogene Approved 7p14.3 07p14.3 2013-05-01 2013-05-01 106479737 ENSG00000252821 NG_043871 HGNC:47351 +HGNC:47352 RNU6-389P RNA, U6 small nuclear 389, pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 2013-05-01 2013-05-01 106481301 ENSG00000252857 NG_045131 HGNC:47352 +HGNC:47353 RNU6-390P RNA, U6 small nuclear 390, pseudogene pseudogene pseudogene Approved 5q33.3 05q33.3 2013-05-01 2013-05-01 106479738 ENSG00000252068 NG_046960 HGNC:47353 +HGNC:47354 RNU6-391P RNA, U6 small nuclear 391, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-05-01 2013-05-01 106479739 ENSG00000202050 NG_043886 HGNC:47354 +HGNC:47355 RNU6-392P RNA, U6 small nuclear 392, pseudogene pseudogene pseudogene Approved 7q22.3 07q22.3 2013-05-01 2013-05-01 106480577 ENSG00000201796 NG_045162 HGNC:47355 +HGNC:47356 RNU6-393P RNA, U6 small nuclear 393, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 2013-05-01 2013-05-01 106481302 ENSG00000207204 NG_044093 HGNC:47356 +HGNC:47357 RNU6-394P RNA, U6 small nuclear 394, pseudogene pseudogene pseudogene Approved Xq12 Xq12 2013-05-01 2013-05-01 106480698 ENSG00000222667 NG_043393 HGNC:47357 +HGNC:47358 RNU6-395P RNA, U6 small nuclear 395, pseudogene pseudogene pseudogene Approved 2q14.3 02q14.3 2013-05-01 2013-05-01 106479740 ENSG00000202532 NG_045106 HGNC:47358 +HGNC:47359 RNU6-396P RNA, U6 small nuclear 396, pseudogene pseudogene pseudogene Approved 21q22.3 21q22.3 2013-05-01 2013-05-01 106481303 ENSG00000202239 NG_045706 HGNC:47359 +HGNC:47360 RNU6-397P RNA, U6 small nuclear 397, pseudogene pseudogene pseudogene Approved 8p22 08p22 2013-05-01 2013-05-01 106479741 ENSG00000252035 NG_008899 HGNC:47360 +HGNC:47361 RNU6-398P RNA, U6 small nuclear 398, pseudogene pseudogene pseudogene Approved 14q23.1 14q23.1 2013-05-01 2013-05-01 106479742 ENSG00000206870 NG_043910 HGNC:47361 +HGNC:47362 RNU6-399P RNA, U6 small nuclear 399, pseudogene pseudogene pseudogene Approved 12q14.1 12q14.1 2013-05-01 2013-05-01 106481892 ENSG00000202034 NG_044715 HGNC:47362 +HGNC:47363 RNU6-400P RNA, U6 small nuclear 400, pseudogene pseudogene pseudogene Approved 12p11.1 12p11.1 2013-05-01 2013-05-01 106481304 ENSG00000212475 NG_044112 HGNC:47363 +HGNC:47364 RNU6-401P RNA, U6 small nuclear 401, pseudogene pseudogene pseudogene Approved 15q25.2 15q25.2 2013-05-01 2013-05-01 106479743 ENSG00000212374 NG_045631 HGNC:47364 +HGNC:47365 RNU6-402P RNA, U6 small nuclear 402, pseudogene pseudogene pseudogene Approved 5q21.1 05q21.1 2013-05-01 2013-05-01 106481305 ENSG00000222610 NG_044119 HGNC:47365 +HGNC:47366 RNU6-403P RNA, U6 small nuclear 403, pseudogene pseudogene pseudogene Approved 1q41 01q41 2013-05-01 2013-05-01 106480578 ENSG00000200033 NG_045845 HGNC:47366 +HGNC:47368 RNU6-405P RNA, U6 small nuclear 405, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-05-01 2013-05-01 106479744 ENSG00000252446 NG_045636 HGNC:47368 +HGNC:47369 RNU6-406P RNA, U6 small nuclear 406, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-05-01 2013-05-01 106481306 ENSG00000252279 NG_044125 HGNC:47369 +HGNC:47370 RNU6-407P RNA, U6 small nuclear 407, pseudogene pseudogene pseudogene Approved 20q11.22 20q11.22 2013-05-01 2013-05-01 106479745 ENSG00000202150 NG_045638 HGNC:47370 +HGNC:47371 RNU6-408P RNA, U6 small nuclear 408, pseudogene pseudogene pseudogene Approved 18q12.1 18q12.1 2013-05-01 2013-05-01 106479746 ENSG00000251719 NG_043933 HGNC:47371 +HGNC:47372 RNU6-409P RNA, U6 small nuclear 409, pseudogene pseudogene pseudogene Approved 22q13.33 22q13.33 2013-05-01 2013-05-01 106481307 ENSG00000206841 NG_070230 HGNC:47372 +HGNC:47373 RNU6-410P RNA, U6 small nuclear 410, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-05-01 2013-05-01 106481893 ENSG00000252815 NG_044724 HGNC:47373 +HGNC:47374 RNU6-411P RNA, U6 small nuclear 411, pseudogene pseudogene pseudogene Approved 6q13 06q13 2013-05-01 2013-05-01 106479747 ENSG00000207180 NG_043940 HGNC:47374 +HGNC:47375 RNU6-412P RNA, U6 small nuclear 412, pseudogene pseudogene pseudogene Approved 4p12 04p12 2013-05-01 2013-05-01 106481308 ENSG00000252243 NG_044140 HGNC:47375 +HGNC:47376 RNU6-413P RNA, U6 small nuclear 413, pseudogene pseudogene pseudogene Approved 10p12.2 10p12.2 2013-05-01 2013-05-01 106479748 ENSG00000206842 NG_043948 HGNC:47376 +HGNC:47377 RNU6-414P RNA, U6 small nuclear 414, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-05-01 2013-05-01 106479749 ENSG00000200575 NG_045653 HGNC:47377 +HGNC:47378 RNU6-415P RNA, U6 small nuclear 415, pseudogene pseudogene pseudogene Approved 15q25.1 15q25.1 2013-05-01 2013-05-01 106481309 ENSG00000252061 NG_044147 HGNC:47378 +HGNC:47379 RNU6-416P RNA, U6 small nuclear 416, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 2013-05-01 2013-05-01 106480579 ENSG00000252074 NG_044451 HGNC:47379 +HGNC:47380 RNU6-417P RNA, U6 small nuclear 417, pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 2013-05-01 2013-05-01 106479750 ENSG00000207443 NG_043961 HGNC:47380 +HGNC:47381 RNU6-418P RNA, U6 small nuclear 418, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 2013-05-01 2013-05-01 106481310 ENSG00000206762 NG_045735 HGNC:47381 +HGNC:47382 RNU6-419P RNA, U6 small nuclear 419, pseudogene pseudogene pseudogene Approved 14q24.2 14q24.2 2013-05-01 2013-05-01 106479751 ENSG00000252839 NG_043968 HGNC:47382 +HGNC:47383 RNU6-420P RNA, U6 small nuclear 420, pseudogene pseudogene pseudogene Approved 4p15.2 04p15.2 2013-05-01 2013-05-01 106481769 ENSG00000239001 NG_043759 HGNC:47383 +HGNC:47384 RNU6-421P RNA, U6 small nuclear 421, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 2013-05-01 2013-05-01 106481311 ENSG00000201341 NG_044160 HGNC:47384 +HGNC:47385 RNU6-422P RNA, U6 small nuclear 422, pseudogene pseudogene pseudogene Approved 10q24.31 10q24.31 2013-05-01 2013-05-01 106480580 ENSG00000207362 NG_041811 HGNC:47385 +HGNC:47387 RNU6-424P RNA, U6 small nuclear 424, pseudogene pseudogene pseudogene Approved 1p35.3 01p35.3 2013-05-01 2013-05-01 106479753 ENSG00000207095 NG_043984 HGNC:47387 +HGNC:47388 RNU6-425P RNA, U6 small nuclear 425, pseudogene pseudogene pseudogene Approved 3q23 03q23 2013-05-01 2013-05-01 106481312 ENSG00000206604 NG_044168 HGNC:47388 +HGNC:47389 RNU6-426P RNA, U6 small nuclear 426, pseudogene pseudogene pseudogene Approved 21q21.1 21q21.1 2013-05-01 2013-05-01 106479754 ENSG00000252273 NG_043990 HGNC:47389 +HGNC:47391 RNU6-428P RNA, U6 small nuclear 428, pseudogene pseudogene pseudogene Approved 3q24 03q24 2013-05-01 2013-05-01 106481894 ENSG00000199812 NG_044734 HGNC:47391 +HGNC:47392 RNU6-429P RNA, U6 small nuclear 429, pseudogene pseudogene pseudogene Approved 5p15.2 05p15.2 2013-05-01 2013-05-01 106479755 ENSG00000207312 NG_043995 HGNC:47392 +HGNC:47393 RNU6-430P RNA, U6 small nuclear 430, pseudogene pseudogene pseudogene Approved 16q24.3 16q24.3 2013-05-01 2013-05-01 106479756 ENSG00000252887 NG_032003 HGNC:47393 +HGNC:47394 RNU6-431P RNA, U6 small nuclear 431, pseudogene pseudogene pseudogene Approved 4q25 04q25 2013-05-01 2013-05-01 106481314 ENSG00000206601 NG_045748 HGNC:47394 +HGNC:47395 RNU6-432P RNA, U6 small nuclear 432, pseudogene pseudogene pseudogene Approved 9q31.3 09q31.3 2013-05-01 2013-05-01 106479757 ENSG00000206923 NG_044013 HGNC:47395 +HGNC:47396 RNU6-433P RNA, U6 small nuclear 433, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 2013-05-01 2013-05-01 106481315 ENSG00000200086 NG_029037 HGNC:47396 +HGNC:47397 RNU6-434P RNA, U6 small nuclear 434, pseudogene pseudogene pseudogene Approved Xp11.22 Xp11.22 2013-05-01 2013-05-01 106480581 ENSG00000207104 NG_044463 HGNC:47397 +HGNC:47398 RNU6-435P RNA, U6 small nuclear 435, pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 2013-05-01 2013-05-01 106479758 ENSG00000206766 NG_029432 HGNC:47398 +HGNC:47399 RNU6-436P RNA, U6 small nuclear 436, pseudogene pseudogene pseudogene Approved 2q24.1 02q24.1 2013-05-01 2013-05-01 106481316 ENSG00000251980 NG_045145 HGNC:47399 +HGNC:47400 RNU6-437P RNA, U6 small nuclear 437, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106479759 ENSG00000238420 NG_008270 HGNC:47400 +HGNC:47401 RNU6-438P RNA, U6 small nuclear 438, pseudogene pseudogene pseudogene Approved 7p14.3 07p14.3 2013-05-01 2013-05-01 106479760 ENSG00000202431 NG_044037 HGNC:47401 +HGNC:47402 RNU6-439P RNA, U6 small nuclear 439, pseudogene pseudogene pseudogene Approved 2p16.3 02p16.3 2013-05-01 2013-05-01 106481317 ENSG00000206915 NG_044202 HGNC:47402 +HGNC:47403 RNU6-440P RNA, U6 small nuclear 440, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-05-01 2013-05-01 106481895 ENSG00000212184 NG_045193 HGNC:47403 +HGNC:47404 RNU6-441P RNA, U6 small nuclear 441, pseudogene pseudogene pseudogene Approved 10q23.1 10q23.1 2013-05-01 2013-05-01 106480392 ENSG00000207275 NG_013373 HGNC:47404 +HGNC:47405 RNU6-442P RNA, U6 small nuclear 442, pseudogene pseudogene pseudogene Approved 8q24.13 08q24.13 2013-05-01 2013-05-01 106479761 ENSG00000206695 NG_044045 HGNC:47405 +HGNC:47406 RNU6-443P RNA, U6 small nuclear 443, pseudogene pseudogene pseudogene Approved 18q12.3 18q12.3 2013-05-01 2018-02-05 106481318 NG_044211 HGNC:47406 +HGNC:47407 RNU6-444P RNA, U6 small nuclear 444, pseudogene pseudogene pseudogene Approved 6q15 06q15 2013-05-01 2013-05-01 106479762 ENSG00000206715 NG_016207 HGNC:47407 +HGNC:47408 RNU6-445P RNA, U6 small nuclear 445, pseudogene pseudogene pseudogene Approved 9q21.13 09q21.13 2013-05-01 2013-05-01 106479763 ENSG00000252758 NG_044062 HGNC:47408 +HGNC:47409 RNU6-446P RNA, U6 small nuclear 446, pseudogene pseudogene pseudogene Approved 17q23.2 17q23.2 2013-05-01 2013-05-01 106481319 ENSG00000199697 NG_033955 HGNC:47409 +HGNC:47410 RNU6-447P RNA, U6 small nuclear 447, pseudogene pseudogene pseudogene Approved 11p15.5 11p15.5 2013-05-01 2013-05-01 106481320 ENSG00000222225 NG_044226 HGNC:47410 +HGNC:47411 RNU6-448P RNA, U6 small nuclear 448, pseudogene pseudogene pseudogene Approved 5q14.3 05q14.3 2013-05-01 2013-05-01 106479764 ENSG00000252861 NG_044072 HGNC:47411 +HGNC:47412 RNU6-449P RNA, U6 small nuclear 449, pseudogene pseudogene pseudogene Approved 15q21.3 15q21.3 2013-05-01 2013-05-01 106481896 ENSG00000206641 NG_044749 HGNC:47412 +HGNC:47413 RNU6-450P RNA, U6 small nuclear 450, pseudogene pseudogene pseudogene Approved 17q23.1 17q23.1 2013-05-01 2013-05-01 106481321 ENSG00000201524 NG_044235 HGNC:47413 +HGNC:47414 RNU6-451P RNA, U6 small nuclear 451, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 2013-05-01 2013-05-01 106479765 ENSG00000199791 NG_045129 HGNC:47414 +HGNC:47415 RNU6-452P RNA, U6 small nuclear 452, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 2013-05-01 2013-05-01 106481322 ENSG00000207135 NG_044241 HGNC:47415 +HGNC:47416 RNU6-453P RNA, U6 small nuclear 453, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-05-01 2013-05-01 106479766 ENSG00000252628 NG_044087 HGNC:47416 +HGNC:47417 RNU6-454P RNA, U6 small nuclear 454, pseudogene pseudogene pseudogene Approved 3p25.1 03p25.1 2013-05-01 2013-05-01 106480582 ENSG00000201162 NG_044473 HGNC:47417 +HGNC:47418 RNU6-455P RNA, U6 small nuclear 455, pseudogene pseudogene pseudogene Approved 14q12 14q12 2013-05-01 2013-05-01 106479767 ENSG00000207412 NG_028349 HGNC:47418 +HGNC:47419 RNU6-456P RNA, U6 small nuclear 456, pseudogene pseudogene pseudogene Approved 5q31.1 05q31.1 2013-05-01 2013-05-01 106481323 ENSG00000207222 NG_044251 HGNC:47419 +HGNC:47420 RNU6-457P RNA, U6 small nuclear 457, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 2013-05-01 2013-05-01 106479768 ENSG00000200869 NG_011881 HGNC:47420 +HGNC:47421 RNU6-458P RNA, U6 small nuclear 458, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2013-05-01 2013-05-01 106481324 ENSG00000206906 NG_044259 HGNC:47421 +HGNC:47423 RNU6-460P RNA, U6 small nuclear 460, pseudogene pseudogene pseudogene Approved 5q31.2 05q31.2 2013-05-01 2013-05-01 106479769 ENSG00000212460 NG_044115 HGNC:47423 +HGNC:47424 RNU6-461P RNA, U6 small nuclear 461, pseudogene pseudogene pseudogene Approved 3q12.3 03q12.3 2013-05-01 2013-05-01 106481897 ENSG00000201065 NG_044759 HGNC:47424 +HGNC:47425 RNU6-462P RNA, U6 small nuclear 462, pseudogene pseudogene pseudogene Approved 4q24 04q24 2013-05-01 2013-05-01 106479770 ENSG00000199529 NG_045717 HGNC:47425 +HGNC:47426 RNU6-463P RNA, U6 small nuclear 463, pseudogene pseudogene pseudogene Approved 10q25.1 10q25.1 2013-05-01 2013-05-01 106481325 ENSG00000207068 NG_044268 HGNC:47426 +HGNC:47427 RNU6-464P RNA, U6 small nuclear 464, pseudogene pseudogene pseudogene Approved 6p12.1 06p12.1 2013-05-01 2013-05-01 106479771 ENSG00000253026 NG_044129 HGNC:47427 +HGNC:47428 RNU6-465P RNA, U6 small nuclear 465, pseudogene pseudogene pseudogene Approved 1p11.2 01p11.2 2013-05-01 2013-05-01 106481326 ENSG00000207149 NG_044276 HGNC:47428 +HGNC:47429 RNU6-466P RNA, U6 small nuclear 466, pseudogene pseudogene pseudogene Approved 15q13.3 15q13.3 2013-05-01 2013-05-01 106481770 ENSG00000212526 NG_045571 HGNC:47429 +HGNC:47430 RNU6-467P RNA, U6 small nuclear 467, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-05-01 2015-02-04 106479772 ENSG00000276577 NG_045725 HGNC:47430 +HGNC:47431 RNU6-468P RNA, U6 small nuclear 468, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-05-01 2013-05-01 106865374 ENSG00000206730 NG_046322 HGNC:47431 +HGNC:47432 RNU6-469P RNA, U6 small nuclear 469, pseudogene pseudogene pseudogene Approved 4q21.23 04q21.23 2013-05-01 2013-05-01 106481327 ENSG00000252062 NG_046917 HGNC:47432 +HGNC:47433 RNU6-470P RNA, U6 small nuclear 470, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-05-01 2013-05-01 106479773 ENSG00000251763 NG_044144 HGNC:47433 +HGNC:47434 RNU6-471P RNA, U6 small nuclear 471, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 2013-05-01 2013-05-01 106479774 ENSG00000206671 NG_044150 HGNC:47434 +HGNC:47435 RNU6-472P RNA, U6 small nuclear 472, pseudogene pseudogene pseudogene Approved 12p11.1 12p11.1 2013-05-01 2013-05-01 106481328 ENSG00000207026 NG_044295 HGNC:47435 +HGNC:47436 RNU6-473P RNA, U6 small nuclear 473, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 2013-05-01 2013-05-01 106479775 ENSG00000251973 NG_045737 HGNC:47436 +HGNC:47437 RNU6-474P RNA, U6 small nuclear 474, pseudogene pseudogene pseudogene Approved 2q33.2 02q33.2 2013-05-01 2013-05-01 106481329 ENSG00000206970 NG_045154 HGNC:47437 +HGNC:47438 RNU6-475P RNA, U6 small nuclear 475, pseudogene pseudogene pseudogene Approved 6q22.1 06q22.1 2013-05-01 2013-05-01 106479776 ENSG00000251882 NG_044164 HGNC:47438 +HGNC:47439 RNU6-476P RNA, U6 small nuclear 476, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 2013-05-01 2013-05-01 106479777 ENSG00000207457 NG_051551 HGNC:47439 +HGNC:47440 RNU6-477P RNA, U6 small nuclear 477, pseudogene pseudogene pseudogene Approved 5q35.1 05q35.1 2013-05-01 2013-05-01 106481330 ENSG00000206614 NG_044310 HGNC:47440 +HGNC:47441 RNU6-478P RNA, U6 small nuclear 478, pseudogene pseudogene pseudogene Approved 10q23.1 10q23.1 2013-05-01 2013-05-01 106479778 ENSG00000200774 NG_044181 HGNC:47441 +HGNC:47442 RNU6-479P RNA, U6 small nuclear 479, pseudogene pseudogene pseudogene Approved 4q35.1 04q35.1 2013-05-01 2013-05-01 106481331 ENSG00000252157 NG_045800 HGNC:47442 +HGNC:47443 RNU6-480P RNA, U6 small nuclear 480, pseudogene pseudogene pseudogene Approved 5q11.1 05q11.1 2013-05-01 2013-05-01 106480583 ENSG00000207060 NG_044479 HGNC:47443 +HGNC:47444 RNU6-481P RNA, U6 small nuclear 481, pseudogene pseudogene pseudogene Approved 1q23.3 01q23.3 2013-05-01 2013-05-01 106479779 ENSG00000206921 NG_044189 HGNC:47444 +HGNC:47445 RNU6-482P RNA, U6 small nuclear 482, pseudogene pseudogene pseudogene Approved 5q22.2 05q22.2 2013-05-01 2013-05-01 106481332 ENSG00000212370 NG_008481 HGNC:47445 +HGNC:47446 RNU6-483P RNA, U6 small nuclear 483, pseudogene pseudogene pseudogene Approved 3p14.3 03p14.3 2013-05-01 2013-05-01 106479780 ENSG00000206815 NG_044193 HGNC:47446 +HGNC:47447 RNU6-484P RNA, U6 small nuclear 484, pseudogene pseudogene pseudogene Approved 5p13.2 05p13.2 2013-05-01 2013-05-01 106479781 ENSG00000206743 NG_044198 HGNC:47447 +HGNC:47448 RNU6-485P RNA, U6 small nuclear 485, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 2013-05-01 2013-05-01 106481333 ENSG00000200345 NG_045807 HGNC:47448 +HGNC:47449 RNU6-486P RNA, U6 small nuclear 486, pseudogene pseudogene pseudogene Approved 3q26.33 03q26.33 2013-05-01 2013-05-01 106481898 ENSG00000199986 NG_044767 HGNC:47449 +HGNC:47450 RNU6-487P RNA, U6 small nuclear 487, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 2013-05-01 2013-05-01 106480393 ENSG00000202300 NG_042975 HGNC:47450 +HGNC:47451 RNU6-488P RNA, U6 small nuclear 488, pseudogene pseudogene pseudogene Approved 3q11.1 03q11.1 2013-05-01 2013-05-01 106479782 ENSG00000251727 NG_044206 HGNC:47451 +HGNC:47452 RNU6-489P RNA, U6 small nuclear 489, pseudogene pseudogene pseudogene Approved 17q12 17q12 2013-05-01 2015-02-04 106481334 ENSG00000277341 NG_044348 HGNC:47452 +HGNC:47453 RNU6-490P RNA, U6 small nuclear 490, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 2013-05-01 2013-05-01 106479783 ENSG00000199855 NG_031973 HGNC:47453 +HGNC:47454 RNU6-491P RNA, U6 small nuclear 491, pseudogene pseudogene pseudogene Approved 12p13.1 12p13.1 2013-05-01 2013-05-01 106479784 ENSG00000251908 NG_044224 HGNC:47454 +HGNC:47455 RNU6-492P RNA, U6 small nuclear 492, pseudogene pseudogene pseudogene Approved 9q31.2 09q31.2 2013-05-01 2013-05-01 106481335 ENSG00000199905 NG_044356 HGNC:47455 +HGNC:47456 RNU6-493P RNA, U6 small nuclear 493, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-05-01 2013-05-01 106481336 ENSG00000212623 NG_044365 HGNC:47456 +HGNC:47457 RNU6-494P RNA, U6 small nuclear 494, pseudogene pseudogene pseudogene Approved 12p11.21 12p11.21 2013-05-01 2013-05-01 106479785 ENSG00000253063 NG_044230 HGNC:47457 +HGNC:47458 RNU6-495P RNA, U6 small nuclear 495, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 2013-05-01 2013-05-01 106481337 ENSG00000199865 NG_044370 HGNC:47458 +HGNC:47459 RNU6-496P RNA, U6 small nuclear 496, pseudogene pseudogene pseudogene Approved Xq23 Xq23 2013-05-01 2013-05-01 106480584 ENSG00000251954 NG_044486 HGNC:47459 +HGNC:47460 RNU6-497P RNA, U6 small nuclear 497, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 2013-05-01 2013-05-01 106479786 ENSG00000202186 NG_044237 HGNC:47460 +HGNC:47461 RNU6-498P RNA, U6 small nuclear 498, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-05-01 2013-05-01 106481338 ENSG00000238478 NG_044379 HGNC:47461 +HGNC:47462 RNU6-499P RNA, U6 small nuclear 499, pseudogene pseudogene pseudogene Approved 4q21.22 04q21.22 2013-05-01 2013-05-01 106479787 ENSG00000202485 NG_044246 HGNC:47462 +HGNC:47463 RNU6-500P RNA, U6 small nuclear 500, pseudogene pseudogene pseudogene Approved 5q35.1 05q35.1 2013-05-01 2013-05-01 106479788 ENSG00000199219 NG_045782 HGNC:47463 +HGNC:47464 RNU6-501P RNA, U6 small nuclear 501, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 2013-05-01 2013-05-01 106481339 ENSG00000200942 NG_053179 HGNC:47464 +HGNC:47465 RNU6-502P RNA, U6 small nuclear 502, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 2013-05-01 2013-05-01 106481899 ENSG00000199289 NG_044774 HGNC:47465 +HGNC:47466 RNU6-503P RNA, U6 small nuclear 503, pseudogene pseudogene pseudogene Approved 1p31.1 01p31.1 2013-05-01 2013-05-01 106479789 ENSG00000252338 NG_045786 HGNC:47466 +HGNC:47467 RNU6-504P RNA, U6 small nuclear 504, pseudogene pseudogene pseudogene Approved Xp11.22 Xp11.22 2013-05-01 2013-05-01 106481340 ENSG00000252377 NG_044398 HGNC:47467 +HGNC:47468 RNU6-505P RNA, U6 small nuclear 505, pseudogene pseudogene pseudogene Approved 3q24 03q24 2013-05-01 2013-05-01 106479790 ENSG00000207156 NG_044272 HGNC:47468 +HGNC:47469 RNU6-506P RNA, U6 small nuclear 506, pseudogene pseudogene pseudogene Approved 4q31.1 04q31.1 2013-05-01 2013-05-01 106479791 ENSG00000252362 NG_044282 HGNC:47469 +HGNC:47470 RNU6-507P RNA, U6 small nuclear 507, pseudogene pseudogene pseudogene Approved 3q25.1 03q25.1 2013-05-01 2013-05-01 106481341 ENSG00000251854 NG_045831 HGNC:47470 +HGNC:47471 RNU6-508P RNA, U6 small nuclear 508, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 2013-05-01 2013-05-01 106480585 ENSG00000200101 NG_044492 HGNC:47471 +HGNC:47472 RNU6-509P RNA, U6 small nuclear 509, pseudogene pseudogene pseudogene Approved 3q23 03q23 2013-05-01 2013-05-01 106479792 ENSG00000200389 NG_044290 HGNC:47472 +HGNC:47473 RNU6-510P RNA, U6 small nuclear 510, pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 2013-05-01 2013-05-01 106481342 ENSG00000212541 NG_044412 HGNC:47473 +HGNC:47474 RNU6-511P RNA, U6 small nuclear 511, pseudogene pseudogene pseudogene Approved 3q11.1 03q11.1 2013-05-01 2013-05-01 106479793 ENSG00000200366 NG_009813 HGNC:47474 +HGNC:47475 RNU6-512P RNA, U6 small nuclear 512, pseudogene pseudogene pseudogene Approved 2q21.3 02q21.3 2013-05-01 2013-05-01 106480394 ENSG00000201308 NG_045008 HGNC:47475 +HGNC:47476 RNU6-513P RNA, U6 small nuclear 513, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 2013-05-01 2013-05-01 106481343 ENSG00000251913 NG_045837 HGNC:47476 +HGNC:47477 RNU6-514P RNA, U6 small nuclear 514, pseudogene pseudogene pseudogene Approved 1p36.12 01p36.12 2013-05-01 2013-05-01 106480586 ENSG00000206935 NG_044502 HGNC:47477 +HGNC:47479 RNU6-516P RNA, U6 small nuclear 516, pseudogene pseudogene pseudogene Approved 15q15.1 15q15.1 2013-05-01 2013-05-01 106479794 ENSG00000223313 NG_044306 HGNC:47479 +HGNC:47480 RNU6-517P RNA, U6 small nuclear 517, pseudogene pseudogene pseudogene Approved 7q31.31 07q31.31 2013-05-01 2013-05-01 106479795 ENSG00000207090 NG_044316 HGNC:47480 +HGNC:47481 RNU6-518P RNA, U6 small nuclear 518, pseudogene pseudogene pseudogene Approved 17q22 17q22 2013-05-01 2013-05-01 106481344 ENSG00000251865 NG_045840 HGNC:47481 +HGNC:47482 RNU6-519P RNA, U6 small nuclear 519, pseudogene pseudogene pseudogene Approved 8q11.21 08q11.21 2013-05-01 2013-05-01 106479796 ENSG00000222522 NG_044324 HGNC:47482 +HGNC:47483 RNU6-520P RNA, U6 small nuclear 520, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 2013-05-01 2013-05-01 106481345 ENSG00000207448 NG_044439 HGNC:47483 +HGNC:47484 RNU6-521P RNA, U6 small nuclear 521, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2013-05-01 2013-05-01 106481900 ENSG00000252472 NG_044782 HGNC:47484 +HGNC:47485 RNU6-522P RNA, U6 small nuclear 522, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-05-01 2013-05-01 106479797 ENSG00000201367 NG_045805 HGNC:47485 +HGNC:47486 RNU6-523P RNA, U6 small nuclear 523, pseudogene pseudogene pseudogene Approved Xp11.3 Xp11.3 2013-05-01 2013-05-01 106479798 ENSG00000252113 NG_044342 HGNC:47486 +HGNC:47487 RNU6-524P RNA, U6 small nuclear 524, pseudogene pseudogene pseudogene Approved 5q15 05q15 2013-05-01 2013-05-01 106481346 ENSG00000206997 NG_044444 HGNC:47487 +HGNC:47488 RNU6-525P RNA, U6 small nuclear 525, pseudogene pseudogene pseudogene Approved 5q35.3 05q35.3 2013-05-01 2013-05-01 106479799 ENSG00000200555 NG_044352 HGNC:47488 +HGNC:47489 RNU6-526P RNA, U6 small nuclear 526, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 2013-05-01 2013-05-01 106481347 ENSG00000201815 NG_044454 HGNC:47489 +HGNC:47490 RNU6-527P RNA, U6 small nuclear 527, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106480587 ENSG00000200295 NG_044512 HGNC:47490 +HGNC:47491 RNU6-528P RNA, U6 small nuclear 528, pseudogene pseudogene pseudogene Approved 8p12 08p12 2013-05-01 2013-05-01 106479800 ENSG00000252735 NG_044362 HGNC:47491 +HGNC:47492 RNU6-529P RNA, U6 small nuclear 529, pseudogene pseudogene pseudogene Approved 10q23.2 10q23.2 2013-05-01 2013-05-01 106481348 ENSG00000200253 NG_045855 HGNC:47492 +HGNC:47493 RNU6-530P RNA, U6 small nuclear 530, pseudogene pseudogene pseudogene Approved 7q21.11 07q21.11 2013-05-01 2013-05-01 106479801 ENSG00000212482 NG_045817 HGNC:47493 +HGNC:47494 RNU6-531P RNA, U6 small nuclear 531, pseudogene pseudogene pseudogene Approved 4q31.1 04q31.1 2013-05-01 2013-05-01 106479802 ENSG00000252503 NG_044374 HGNC:47494 +HGNC:47495 RNU6-532P RNA, U6 small nuclear 532, pseudogene pseudogene pseudogene Approved 7q21.3 07q21.3 2013-05-01 2013-05-01 106481349 ENSG00000207045 NG_045167 HGNC:47495 +HGNC:47496 RNU6-533P RNA, U6 small nuclear 533, pseudogene pseudogene pseudogene Approved 8p12 08p12 2013-05-01 2013-05-01 106481901 ENSG00000206871 NG_044793 HGNC:47496 +HGNC:47497 RNU6-534P RNA, U6 small nuclear 534, pseudogene pseudogene pseudogene Approved 7p21.3 07p21.3 2013-05-01 2013-05-01 106481978 ENSG00000201747 NG_043396 HGNC:47497 +HGNC:47498 RNU6-535P RNA, U6 small nuclear 535, pseudogene pseudogene pseudogene Approved 10p14 10p14 2013-05-01 2013-05-01 106479803 ENSG00000207453 NG_044384 HGNC:47498 +HGNC:47499 RNU6-536P RNA, U6 small nuclear 536, pseudogene pseudogene pseudogene Approved 1p34.2 01p34.2 2013-05-01 2013-05-01 106481350 ENSG00000200254 NG_045862 HGNC:47499 +HGNC:47500 RNU6-537P RNA, U6 small nuclear 537, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 2013-05-01 2013-05-01 106479804 ENSG00000253086 NG_044393 HGNC:47500 +HGNC:47501 RNU6-538P RNA, U6 small nuclear 538, pseudogene pseudogene pseudogene Approved 9p12 09p12 2013-05-01 2015-02-04 106479805 ENSG00000275030 NG_045830 HGNC:47501 +HGNC:47502 RNU6-539P RNA, U6 small nuclear 539, pseudogene pseudogene pseudogene Approved 14q21.3 14q21.3 2013-05-01 2013-05-01 106481351 ENSG00000252474 NG_051075 HGNC:47502 +HGNC:47503 RNU6-540P RNA, U6 small nuclear 540, pseudogene pseudogene pseudogene Approved 5q12.3 05q12.3 2013-05-01 2013-05-01 106479806 ENSG00000207352 NG_045833 HGNC:47503 +HGNC:47504 RNU6-541P RNA, U6 small nuclear 541, pseudogene pseudogene pseudogene Approved 14q12 14q12 2013-05-01 2013-05-01 106481352 ENSG00000207440 NG_044487 HGNC:47504 +HGNC:47505 RNU6-542P RNA, U6 small nuclear 542, pseudogene pseudogene pseudogene Approved 2p13.1 02p13.1 2013-05-01 2013-05-01 106480588 ENSG00000252214 NG_032663 HGNC:47505 +HGNC:47506 RNU6-543P RNA, U6 small nuclear 543, pseudogene pseudogene pseudogene Approved 10q21.3 10q21.3 2013-05-01 2013-05-01 106479807 ENSG00000199446 NG_044418 HGNC:47506 +HGNC:47507 RNU6-544P RNA, U6 small nuclear 544, pseudogene pseudogene pseudogene Approved 11q14.1 11q14.1 2013-05-01 2013-05-01 106481353 ENSG00000200146 NG_044495 HGNC:47507 +HGNC:47508 RNU6-545P RNA, U6 small nuclear 545, pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 RNU6-292P RNA, U6 small nuclear 292, pseudogene 2013-05-01 2015-10-14 106479808 ENSG00000199551 NG_044427 HGNC:47508 +HGNC:47509 RNU6-546P RNA, U6 small nuclear 546, pseudogene pseudogene pseudogene Approved 2q24.1 02q24.1 2013-05-01 2013-05-01 106479809 ENSG00000206718 NG_044435 HGNC:47509 +HGNC:47510 RNU6-547P RNA, U6 small nuclear 547, pseudogene pseudogene pseudogene Approved 3q26.31 03q26.31 2013-05-01 2013-05-01 106481902 ENSG00000252082 NG_044800 HGNC:47510 +HGNC:47511 RNU6-548P RNA, U6 small nuclear 548, pseudogene pseudogene pseudogene Approved 2p14 02p14 2013-05-01 2013-05-01 106481354 ENSG00000252892 NG_053002 HGNC:47511 +HGNC:47512 RNU6-549P RNA, U6 small nuclear 549, pseudogene pseudogene pseudogene Approved 15q22.31 15q22.31 2013-05-01 2013-05-01 106479810 ENSG00000207162 NG_045844 HGNC:47512 +HGNC:47513 RNU6-550P RNA, U6 small nuclear 550, pseudogene pseudogene pseudogene Approved 4q27 04q27 2013-05-01 2013-05-01 106481355 ENSG00000212359 NG_031862 HGNC:47513 +HGNC:47514 RNU6-551P RNA, U6 small nuclear 551, pseudogene pseudogene pseudogene Approved 4q25 04q25 2013-05-01 2013-05-01 106479811 ENSG00000252470 NG_044448 HGNC:47514 +HGNC:47515 RNU6-552P RNA, U6 small nuclear 552, pseudogene pseudogene pseudogene Approved 14q21.2 14q21.2 2013-05-01 2013-05-01 106481356 ENSG00000199739 NG_044523 HGNC:47515 +HGNC:47516 RNU6-553P RNA, U6 small nuclear 553, pseudogene pseudogene pseudogene Approved 4q24 04q24 2013-05-01 2013-05-01 106480589 ENSG00000200917 NG_045176 HGNC:47516 +HGNC:47517 RNU6-554P RNA, U6 small nuclear 554, pseudogene pseudogene pseudogene Approved 15q15.3 15q15.3 2013-05-01 2013-05-01 106479812 ENSG00000222398 NG_011636 HGNC:47517 +HGNC:47518 RNU6-555P RNA, U6 small nuclear 555, pseudogene pseudogene pseudogene Approved Xq21.31 Xq21.31 2013-05-01 2013-05-01 106479813 ENSG00000207515 NG_044461 HGNC:47518 +HGNC:47519 RNU6-556P RNA, U6 small nuclear 556, pseudogene pseudogene pseudogene Approved 5q33.3 05q33.3 2013-05-01 2013-05-01 106481357 ENSG00000199468 NG_044531 HGNC:47519 +HGNC:47520 RNU6-557P RNA, U6 small nuclear 557, pseudogene pseudogene pseudogene Approved 3p13 03p13 2013-05-01 2013-05-01 106479814 ENSG00000252651 NG_044470 HGNC:47520 +HGNC:47521 RNU6-558P RNA, U6 small nuclear 558, pseudogene pseudogene pseudogene Approved 12q24.22 12q24.22 2013-05-01 2013-05-01 106481358 ENSG00000201382 NG_045885 HGNC:47521 +HGNC:47522 RNU6-559P RNA, U6 small nuclear 559, pseudogene pseudogene pseudogene Approved 9p22.3 09p22.3 2013-05-01 2013-05-01 106481771 ENSG00000251960 NG_043773 HGNC:47522 +HGNC:47523 RNU6-560P RNA, U6 small nuclear 560, pseudogene pseudogene pseudogene Approved 11q14.2 11q14.2 2013-05-01 2013-05-01 106480590 ENSG00000200877 NG_044535 HGNC:47523 +HGNC:47524 RNU6-561P RNA, U6 small nuclear 561, pseudogene pseudogene pseudogene Approved 2p12 02p12 2013-05-01 2013-05-01 106479815 ENSG00000252031 NG_044478 HGNC:47524 +HGNC:47525 RNU6-562P RNA, U6 small nuclear 562, pseudogene pseudogene pseudogene Approved Xq13.3 Xq13.3 2013-05-01 2013-05-01 106479816 ENSG00000199601 NG_015972 HGNC:47525 +HGNC:47526 RNU6-563P RNA, U6 small nuclear 563, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 2013-05-01 2013-05-01 106481359 ENSG00000201742 NG_044545 HGNC:47526 +HGNC:47527 RNU6-564P RNA, U6 small nuclear 564, pseudogene pseudogene pseudogene Approved 22q12.2 22q12.2 2013-05-01 2013-05-01 106479817 ENSG00000222915 NG_045870 HGNC:47527 +HGNC:47528 RNU6-565P RNA, U6 small nuclear 565, pseudogene pseudogene pseudogene Approved 7p14.1 07p14.1 2013-05-01 2013-05-01 106481360 ENSG00000222869 NG_044552 HGNC:47528 +HGNC:47529 RNU6-566P RNA, U6 small nuclear 566, pseudogene pseudogene pseudogene Approved 2p21 02p21 2013-05-01 2013-05-01 106481903 ENSG00000252599 NG_044808 HGNC:47529 +HGNC:47530 RNU6-567P RNA, U6 small nuclear 567, pseudogene pseudogene pseudogene Approved 18q21.32 18q21.32 2013-05-01 2013-05-01 106479818 ENSG00000252555 NG_044499 HGNC:47530 +HGNC:47533 RNU6-570P RNA, U6 small nuclear 570, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 2013-05-01 2013-05-01 106481361 ENSG00000252860 NG_045897 HGNC:47533 +HGNC:47534 RNU6-571P RNA, U6 small nuclear 571, pseudogene pseudogene pseudogene Approved 10q22.1 10q22.1 2013-05-01 2013-05-01 106479819 ENSG00000206855 NG_044510 HGNC:47534 +HGNC:47535 RNU6-572P RNA, U6 small nuclear 572, pseudogene pseudogene pseudogene Approved 5q31.2 05q31.2 2013-05-01 2013-05-01 106481362 ENSG00000252533 NG_044567 HGNC:47535 +HGNC:47536 RNU6-573P RNA, U6 small nuclear 573, pseudogene pseudogene pseudogene Approved 4p15.1 04p15.1 2013-05-01 2013-05-01 106480591 ENSG00000206665 NG_044543 HGNC:47536 +HGNC:47537 RNU6-574P RNA, U6 small nuclear 574, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 2013-05-01 2013-05-01 106479820 ENSG00000206992 NG_045878 HGNC:47537 +HGNC:47538 RNU6-575P RNA, U6 small nuclear 575, pseudogene pseudogene pseudogene Approved 7p14.1 07p14.1 2013-05-01 2013-05-01 106481363 ENSG00000223258 NG_044577 HGNC:47538 +HGNC:47539 RNU6-576P RNA, U6 small nuclear 576, pseudogene pseudogene pseudogene Approved 10p15.3 10p15.3 2013-05-01 2013-05-01 106479821 ENSG00000212156 NG_044528 HGNC:47539 +HGNC:47540 RNU6-577P RNA, U6 small nuclear 577, pseudogene pseudogene pseudogene Approved 2p22.2 02p22.2 2013-05-01 2013-05-01 106479822 ENSG00000252756 NG_045882 HGNC:47540 +HGNC:47541 RNU6-578P RNA, U6 small nuclear 578, pseudogene pseudogene pseudogene Approved 4p15.33 04p15.33 2013-05-01 2013-05-01 106481904 ENSG00000212282 NG_044816 HGNC:47541 +HGNC:47542 RNU6-579P RNA, U6 small nuclear 579, pseudogene pseudogene pseudogene Approved 2q21.2 02q21.2 2013-05-01 2013-05-01 106481364 ENSG00000252688 NG_044586 HGNC:47542 +HGNC:47543 RNU6-580P RNA, U6 small nuclear 580, pseudogene pseudogene pseudogene Approved 2q24.2 02q24.2 2013-05-01 2013-05-01 106480395 ENSG00000202029 NG_042991 HGNC:47543 +HGNC:47544 RNU6-581P RNA, U6 small nuclear 581, pseudogene pseudogene pseudogene Approved 7q31.31 07q31.31 2013-05-01 2013-05-01 106479823 ENSG00000252023 NG_034230 HGNC:47544 +HGNC:47545 RNU6-582P RNA, U6 small nuclear 582, pseudogene pseudogene pseudogene Approved 4q32.1 04q32.1 2013-05-01 2013-05-01 106481365 ENSG00000199859 NG_044596 HGNC:47545 +HGNC:47546 RNU6-583P RNA, U6 small nuclear 583, pseudogene pseudogene pseudogene Approved 4q28.2 04q28.2 2013-05-01 2013-05-01 106479824 ENSG00000251821 NG_045890 HGNC:47546 +HGNC:47547 RNU6-584P RNA, U6 small nuclear 584, pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 2013-05-01 2013-05-01 106479825 ENSG00000222282 NG_044557 HGNC:47547 +HGNC:47549 RNU6-586P RNA, U6 small nuclear 586, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-05-01 2013-05-01 106480592 ENSG00000253074 NG_045891 HGNC:47549 +HGNC:47550 RNU6-587P RNA, U6 small nuclear 587, pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 2013-05-01 2013-05-01 106481366 ENSG00000212584 NG_044603 HGNC:47550 +HGNC:47551 RNU6-588P RNA, U6 small nuclear 588, pseudogene pseudogene pseudogene Approved 5q32 05q32 2013-05-01 2013-05-01 106479826 ENSG00000222213 NG_044563 HGNC:47551 +HGNC:47552 RNU6-589P RNA, U6 small nuclear 589, pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 2013-05-01 2013-05-01 106481367 ENSG00000252294 NG_044614 HGNC:47552 +HGNC:47553 RNU6-590P RNA, U6 small nuclear 590, pseudogene pseudogene pseudogene Approved 12p13.1 12p13.1 2013-05-01 2013-05-01 106480593 ENSG00000201909 NG_044559 HGNC:47553 +HGNC:47554 RNU6-591P RNA, U6 small nuclear 591, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 2013-05-01 2013-05-01 106479827 ENSG00000207122 NG_044573 HGNC:47554 +HGNC:47555 RNU6-592P RNA, U6 small nuclear 592, pseudogene pseudogene pseudogene Approved 11q24.1 11q24.1 2013-05-01 2013-05-01 106481368 ENSG00000223265 NG_045913 HGNC:47555 +HGNC:47556 RNU6-593P RNA, U6 small nuclear 593, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 2013-05-01 2013-05-01 106479828 ENSG00000201586 NG_045901 HGNC:47556 +HGNC:47558 RNU6-595P RNA, U6 small nuclear 595, pseudogene pseudogene pseudogene Approved 12q14.1 12q14.1 2013-05-01 2013-05-01 106479829 ENSG00000200814 NG_044591 HGNC:47558 +HGNC:47559 RNU6-596P RNA, U6 small nuclear 596, pseudogene pseudogene pseudogene Approved 8q12.1 08q12.1 2013-05-01 2013-05-01 106481369 ENSG00000202265 NG_044629 HGNC:47559 +HGNC:47560 RNU6-597P RNA, U6 small nuclear 597, pseudogene pseudogene pseudogene Approved 14q23.2 14q23.2 2013-05-01 2013-05-01 106481905 ENSG00000202490 NG_045997 HGNC:47560 +HGNC:47561 RNU6-598P RNA, U6 small nuclear 598, pseudogene pseudogene pseudogene Approved 10p11.23 10p11.23 2013-05-01 2013-05-01 106479830 ENSG00000200887 NG_044598 HGNC:47561 +HGNC:47562 RNU6-599P RNA, U6 small nuclear 599, pseudogene pseudogene pseudogene Approved 9p11.2 09p11.2 2013-05-01 2013-05-01 106481370 ENSG00000238529 NG_045919 HGNC:47562 +HGNC:47563 RNU6-600P RNA, U6 small nuclear 600, pseudogene pseudogene pseudogene Approved 12q13.12 12q13.12 2013-05-01 2013-05-01 106479831 ENSG00000199394 NG_044609 HGNC:47563 +HGNC:47564 RNU6-601P RNA, U6 small nuclear 601, pseudogene pseudogene pseudogene Approved 2q23.2 02q23.2 2013-05-01 2013-05-01 106479832 ENSG00000207270 NG_044617 HGNC:47564 +HGNC:47565 RNU6-602P RNA, U6 small nuclear 602, pseudogene pseudogene pseudogene Approved 14q12 14q12 2013-05-01 2013-05-01 106481371 ENSG00000223087 NG_028349 HGNC:47565 +HGNC:47566 RNU6-603P RNA, U6 small nuclear 603, pseudogene pseudogene pseudogene Approved 6p21.32 06p21.32 RNU6-825P RNA, U6 small nuclear 825, pseudogene 2013-05-01 2016-02-10 106480594 ENSG00000223335 NG_044565 HGNC:47566 +HGNC:47567 RNU6-604P RNA, U6 small nuclear 604, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 2013-05-01 2013-05-01 106479833 ENSG00000212219 NG_045184 HGNC:47567 +HGNC:47568 RNU6-605P RNA, U6 small nuclear 605, pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 2013-05-01 2013-05-01 106481372 ENSG00000199963 NG_044651 HGNC:47568 +HGNC:47569 RNU6-606P RNA, U6 small nuclear 606, pseudogene pseudogene pseudogene Approved 5q14.3 05q14.3 2013-05-01 2013-05-01 106479834 ENSG00000207452 NG_044633 HGNC:47569 +HGNC:47570 RNU6-607P RNA, U6 small nuclear 607, pseudogene pseudogene pseudogene Approved 8p11.23 08p11.23 2013-05-01 2013-05-01 106481772 ENSG00000223215 NG_043782 HGNC:47570 +HGNC:47571 RNU6-608P RNA, U6 small nuclear 608, pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 2013-05-01 2013-05-01 106481373 ENSG00000206654 NG_044657 HGNC:47571 +HGNC:47572 RNU6-609P RNA, U6 small nuclear 609, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 2013-05-01 2013-05-01 106481906 ENSG00000202329 NG_044833 HGNC:47572 +HGNC:47573 RNU6-610P RNA, U6 small nuclear 610, pseudogene pseudogene pseudogene Approved 15q15.3 15q15.3 2013-05-01 2013-05-01 106479835 ENSG00000206991 NG_045922 HGNC:47573 +HGNC:47574 RNU6-611P RNA, U6 small nuclear 611, pseudogene pseudogene pseudogene Approved 19q13.32 19q13.32 2013-05-01 2013-05-01 106479836 ENSG00000207003 NG_045927 HGNC:47574 +HGNC:47575 RNU6-612P RNA, U6 small nuclear 612, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 2013-05-01 2013-05-01 106481374 ENSG00000252718 NG_045189 HGNC:47575 +HGNC:47576 RNU6-613P RNA, U6 small nuclear 613, pseudogene pseudogene pseudogene Approved 2q36.3 02q36.3 2013-05-01 2013-05-01 106479837 ENSG00000222344 NG_053017 HGNC:47576 +HGNC:47577 RNU6-614P RNA, U6 small nuclear 614, pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 2013-05-01 2013-05-01 106481375 ENSG00000207097 NG_045943 HGNC:47577 +HGNC:47578 RNU6-615P RNA, U6 small nuclear 615, pseudogene pseudogene pseudogene Approved 4q21.22 04q21.22 2013-05-01 2013-05-01 106480595 ENSG00000251874 NG_044574 HGNC:47578 +HGNC:47579 RNU6-616P RNA, U6 small nuclear 616, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 2013-05-01 2013-05-01 106479838 ENSG00000207081 NG_044661 HGNC:47579 +HGNC:47580 RNU6-617P RNA, U6 small nuclear 617, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 2013-05-01 2013-05-01 106479839 ENSG00000251956 NG_045939 HGNC:47580 +HGNC:47581 RNU6-618P RNA, U6 small nuclear 618, pseudogene pseudogene pseudogene Approved 12p11.21 12p11.21 2013-05-01 2013-05-01 106481376 ENSG00000200388 NG_044676 HGNC:47581 +HGNC:47582 RNU6-619P RNA, U6 small nuclear 619, pseudogene pseudogene pseudogene Approved 2q36.1 02q36.1 2013-05-01 2013-05-01 106479840 ENSG00000202016 NG_045946 HGNC:47582 +HGNC:47583 RNU6-620P RNA, U6 small nuclear 620, pseudogene pseudogene pseudogene Approved 5q14.3 05q14.3 2013-05-01 2013-05-01 106481377 ENSG00000206744 NG_044687 HGNC:47583 +HGNC:47584 RNU6-621P RNA, U6 small nuclear 621, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-05-01 2013-05-01 106481907 ENSG00000201622 NG_046005 HGNC:47584 +HGNC:47585 RNU6-622P RNA, U6 small nuclear 622, pseudogene pseudogene pseudogene Approved 1p31.1 01p31.1 2013-05-01 2013-05-01 106479841 ENSG00000206999 NG_044682 HGNC:47585 +HGNC:47586 RNU6-623P RNA, U6 small nuclear 623, pseudogene pseudogene pseudogene Approved 17q23.2 17q23.2 2013-05-01 2013-05-01 106481378 ENSG00000200013 NG_023265 HGNC:47586 +HGNC:47587 RNU6-624P RNA, U6 small nuclear 624, pseudogene pseudogene pseudogene Approved 2q36.3 02q36.3 2013-05-01 2013-05-01 106479842 ENSG00000200281 NG_044690 HGNC:47587 +HGNC:47588 RNU6-625P RNA, U6 small nuclear 625, pseudogene pseudogene pseudogene Approved 17q25.3 17q25.3 2013-05-01 2013-05-01 106479843 ENSG00000238658 NG_045954 HGNC:47588 +HGNC:47589 RNU6-626P RNA, U6 small nuclear 626, pseudogene pseudogene pseudogene Approved 6p12.1 06p12.1 2013-05-01 2013-05-01 106481379 ENSG00000200224 NG_044705 HGNC:47589 +HGNC:47590 RNU6-627P RNA, U6 small nuclear 627, pseudogene pseudogene pseudogene Approved 2q24.3 02q24.3 2013-05-01 2013-05-01 106480596 ENSG00000200902 NG_044584 HGNC:47590 +HGNC:47591 RNU6-628P RNA, U6 small nuclear 628, pseudogene pseudogene pseudogene Approved 8q24.13 08q24.13 2013-05-01 2013-05-01 106480396 ENSG00000222607 NG_042999 HGNC:47591 +HGNC:47592 RNU6-629P RNA, U6 small nuclear 629, pseudogene pseudogene pseudogene Approved 2q31.2 02q31.2 2013-05-01 2013-05-01 106479844 ENSG00000206788 NG_012168 HGNC:47592 +HGNC:47593 RNU6-630P RNA, U6 small nuclear 630, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 2013-05-01 2013-05-01 106481380 ENSG00000212560 NG_044714 HGNC:47593 +HGNC:47594 RNU6-631P RNA, U6 small nuclear 631, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-05-01 2013-05-01 106479845 ENSG00000200790 NG_045959 HGNC:47594 +HGNC:47595 RNU6-632P RNA, U6 small nuclear 632, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 2013-05-01 2013-05-01 106479846 ENSG00000251711 NG_044728 HGNC:47595 +HGNC:47596 RNU6-633P RNA, U6 small nuclear 633, pseudogene pseudogene pseudogene Approved 16p13.13 16p13.13 2013-05-01 2013-05-01 106481381 ENSG00000199482 NG_044722 HGNC:47596 +HGNC:47597 RNU6-634P RNA, U6 small nuclear 634, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 2013-05-01 2013-05-01 106479847 ENSG00000239189 NG_045192 HGNC:47597 +HGNC:47598 RNU6-635P RNA, U6 small nuclear 635, pseudogene pseudogene pseudogene Approved 4q24 04q24 2013-05-01 2013-05-01 106481382 ENSG00000252460 NG_044732 HGNC:47598 +HGNC:47599 RNU6-636P RNA, U6 small nuclear 636, pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 2013-05-01 2013-05-01 106480597 ENSG00000207328 NG_044594 HGNC:47599 +HGNC:47600 RNU6-637P RNA, U6 small nuclear 637, pseudogene pseudogene pseudogene Approved 3q26.2 03q26.2 2013-05-01 2013-05-01 106479848 ENSG00000206777 NG_044744 HGNC:47600 +HGNC:47601 RNU6-638P RNA, U6 small nuclear 638, pseudogene pseudogene pseudogene Approved 17q25.3 17q25.3 2013-05-01 2013-05-01 106481383 ENSG00000252391 NG_045965 HGNC:47601 +HGNC:47602 RNU6-639P RNA, U6 small nuclear 639, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 2013-05-01 2013-05-01 106479849 ENSG00000206801 NG_044753 HGNC:47602 +HGNC:47603 RNU6-640P RNA, U6 small nuclear 640, pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 2013-05-01 2013-05-01 106479850 ENSG00000200563 NG_045971 HGNC:47603 +HGNC:47604 RNU6-641P RNA, U6 small nuclear 641, pseudogene pseudogene pseudogene Approved Xp21.1 Xp21.1 2013-05-01 2013-05-01 106481908 ENSG00000206733 NG_044850 HGNC:47604 +HGNC:47605 RNU6-642P RNA, U6 small nuclear 642, pseudogene pseudogene pseudogene Approved 2q35 02q35 2013-05-01 2013-05-01 106481384 ENSG00000200029 NG_045194 HGNC:47605 +HGNC:47606 RNU6-643P RNA, U6 small nuclear 643, pseudogene pseudogene pseudogene Approved 6p21.1 06p21.1 2013-05-01 2013-05-01 106479851 ENSG00000206745 NG_044769 HGNC:47606 +HGNC:47607 RNU6-644P RNA, U6 small nuclear 644, pseudogene pseudogene pseudogene Approved 5q23.1 05q23.1 2013-05-01 2013-05-01 106481385 ENSG00000212457 NG_044757 HGNC:47607 +HGNC:47608 RNU6-645P RNA, U6 small nuclear 645, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-05-01 2013-05-01 106479852 ENSG00000201519 NG_044779 HGNC:47608 +HGNC:47609 RNU6-646P RNA, U6 small nuclear 646, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-05-01 2013-05-01 106481386 ENSG00000201441 NG_044765 HGNC:47609 +HGNC:47610 RNU6-647P RNA, U6 small nuclear 647, pseudogene pseudogene pseudogene Approved 2p22.3 02p22.3 2013-05-01 2013-05-01 106480598 ENSG00000201113 NG_044601 HGNC:47610 +HGNC:47611 RNU6-648P RNA, U6 small nuclear 648, pseudogene pseudogene pseudogene Approved Xq23 Xq23 2013-05-01 2013-05-01 106479853 ENSG00000222122 NG_044786 HGNC:47611 +HGNC:47612 RNU6-649P RNA, U6 small nuclear 649, pseudogene pseudogene pseudogene Approved 2p25.2 02p25.2 2013-05-01 2013-05-01 106479854 ENSG00000207192 NG_044795 HGNC:47612 +HGNC:47613 RNU6-650P RNA, U6 small nuclear 650, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 2013-05-01 2013-05-01 106481387 ENSG00000202528 NG_045197 HGNC:47613 +HGNC:47614 RNU6-651P RNA, U6 small nuclear 651, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-05-01 2013-05-01 106479855 ENSG00000222972 NG_045199 HGNC:47614 +HGNC:47615 RNU6-652P RNA, U6 small nuclear 652, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-05-01 2013-05-01 106481388 ENSG00000202358 NG_045980 HGNC:47615 +HGNC:47616 RNU6-653P RNA, U6 small nuclear 653, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106480397 ENSG00000199944 NG_045281 HGNC:47616 +HGNC:47617 RNU6-654P RNA, U6 small nuclear 654, pseudogene pseudogene pseudogene Approved 11q22.3 11q22.3 2013-05-01 2013-05-01 106481909 ENSG00000201243 NG_044860 HGNC:47617 +HGNC:47618 RNU6-655P RNA, U6 small nuclear 655, pseudogene pseudogene pseudogene Approved 18q23 18q23 2013-05-01 2013-05-01 106479856 ENSG00000199728 NG_044811 HGNC:47618 +HGNC:47619 RNU6-656P RNA, U6 small nuclear 656, pseudogene pseudogene pseudogene Approved 8q11.1 08q11.1 2013-05-01 2013-05-01 106479857 ENSG00000252594 NG_044821 HGNC:47619 +HGNC:47620 RNU6-657P RNA, U6 small nuclear 657, pseudogene pseudogene pseudogene Approved 10q23.33 10q23.33 2013-05-01 2013-05-01 106481389 ENSG00000206631 NG_044791 HGNC:47620 +HGNC:47621 RNU6-658P RNA, U6 small nuclear 658, pseudogene pseudogene pseudogene Approved 5q13.3 05q13.3 2013-05-01 2013-05-01 106479858 ENSG00000207336 NG_011531 HGNC:47621 +HGNC:47622 RNU6-659P RNA, U6 small nuclear 659, pseudogene pseudogene pseudogene Approved 14q24.2 14q24.2 2013-05-01 2013-05-01 106481390 ENSG00000252263 NG_044798 HGNC:47622 +HGNC:47623 RNU6-660P RNA, U6 small nuclear 660, pseudogene pseudogene pseudogene Approved 5p15.1 05p15.1 2013-05-01 2013-05-01 106480599 ENSG00000201436 NG_044611 HGNC:47623 +HGNC:47624 RNU6-661P RNA, U6 small nuclear 661, pseudogene pseudogene pseudogene Approved 5q12.1 05q12.1 2013-05-01 2013-05-01 106479859 ENSG00000199279 NG_046002 HGNC:47624 +HGNC:47625 RNU6-662P RNA, U6 small nuclear 662, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-05-01 2013-05-01 106479860 ENSG00000206980 NG_044845 HGNC:47625 +HGNC:47626 RNU6-663P RNA, U6 small nuclear 663, pseudogene pseudogene pseudogene Approved 8p12 08p12 2013-05-01 2013-05-01 106481391 ENSG00000212407 NG_044806 HGNC:47626 +HGNC:47627 RNU6-664P RNA, U6 small nuclear 664, pseudogene pseudogene pseudogene Approved 2q33.3 02q33.3 2013-05-01 2013-05-01 106479861 ENSG00000199251 NG_046009 HGNC:47627 +HGNC:47628 RNU6-665P RNA, U6 small nuclear 665, pseudogene pseudogene pseudogene Approved 8q11.21 08q11.21 2013-05-01 2013-05-01 106481392 ENSG00000207369 NG_045992 HGNC:47628 +HGNC:47629 RNU6-666P RNA, U6 small nuclear 666, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 2013-05-01 2013-05-01 106480600 ENSG00000200369 NG_044619 HGNC:47629 +HGNC:47630 RNU6-667P RNA, U6 small nuclear 667, pseudogene pseudogene pseudogene Approved 15q25.1 15q25.1 2013-05-01 2013-05-01 106479862 ENSG00000252995 NG_044864 HGNC:47630 +HGNC:47631 RNU6-668P RNA, U6 small nuclear 668, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 2013-05-01 2013-05-01 106481393 ENSG00000201050 NG_045996 HGNC:47631 +HGNC:47632 RNU6-669P RNA, U6 small nuclear 669, pseudogene pseudogene pseudogene Approved 9q22.32 09q22.32 2013-05-01 2013-05-01 107063537 ENSG00000202445 NG_046355 HGNC:47632 +HGNC:47633 RNU6-670P RNA, U6 small nuclear 670, pseudogene pseudogene pseudogene Approved 3p25.3 03p25.3 2013-05-01 2013-05-01 106479863 ENSG00000201182 NG_007311 HGNC:47633 +HGNC:47635 RNU6-672P RNA, U6 small nuclear 672, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 2013-05-01 2013-05-01 106481910 ENSG00000206638 NG_046014 HGNC:47635 +HGNC:47636 RNU6-673P RNA, U6 small nuclear 673, pseudogene pseudogene pseudogene Approved 10q22.3 10q22.3 2013-05-01 2013-05-01 106481394 ENSG00000201954 NG_044832 HGNC:47636 +HGNC:47637 RNU6-674P RNA, U6 small nuclear 674, pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 2013-05-01 2013-05-01 106481773 ENSG00000200701 NG_045095 HGNC:47637 +HGNC:47638 RNU6-675P RNA, U6 small nuclear 675, pseudogene pseudogene pseudogene Approved 2q14.3 02q14.3 2013-05-01 2013-05-01 106479864 ENSG00000206963 NG_045201 HGNC:47638 +HGNC:47640 RNU6-677P RNA, U6 small nuclear 677, pseudogene pseudogene pseudogene Approved 9q22.32 09q22.32 2013-05-01 2013-05-01 106481395 ENSG00000252723 NG_044840 HGNC:47640 +HGNC:47641 RNU6-678P RNA, U6 small nuclear 678, pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 2013-05-01 2013-05-01 106479865 ENSG00000252641 NG_044885 HGNC:47641 +HGNC:47642 RNU6-679P RNA, U6 small nuclear 679, pseudogene pseudogene pseudogene Approved 5p15.2 05p15.2 2013-05-01 2013-05-01 106479866 ENSG00000212305 NG_044893 HGNC:47642 +HGNC:47643 RNU6-680P RNA, U6 small nuclear 680, pseudogene pseudogene pseudogene Approved 5q13.3 05q13.3 2013-05-01 2013-05-01 106480601 ENSG00000207333 NG_045915 HGNC:47643 +HGNC:47644 RNU6-681P RNA, U6 small nuclear 681, pseudogene pseudogene pseudogene Approved 3q26.32 03q26.32 2013-05-01 2013-05-01 106481911 ENSG00000200882 NG_047195 HGNC:47644 +HGNC:47645 RNU6-682P RNA, U6 small nuclear 682, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 2013-05-01 2013-05-01 106479867 ENSG00000200713 NG_009444 HGNC:47645 +HGNC:47647 RNU6-684P RNA, U6 small nuclear 684, pseudogene pseudogene pseudogene Approved 14q32.33 14q32.33 2013-05-01 2013-05-01 106481396 ENSG00000222761 NG_044849 HGNC:47647 +HGNC:47648 RNU6-685P RNA, U6 small nuclear 685, pseudogene pseudogene pseudogene Approved 2p12 02p12 2013-05-01 2013-05-01 106479868 ENSG00000252897 NG_044909 HGNC:47648 +HGNC:47649 RNU6-686P RNA, U6 small nuclear 686, pseudogene pseudogene pseudogene Approved 15q22.31 15q22.31 2013-05-01 2013-05-01 106481397 ENSG00000201709 NG_044858 HGNC:47649 +HGNC:47650 RNU6-687P RNA, U6 small nuclear 687, pseudogene pseudogene pseudogene Approved 10q21.1 10q21.1 2013-05-01 2013-05-01 106479869 ENSG00000252252 NG_046037 HGNC:47650 +HGNC:47652 RNU6-689P RNA, U6 small nuclear 689, pseudogene pseudogene pseudogene Approved 14q24.3 14q24.3 2013-05-01 2013-05-01 106479870 ENSG00000206924 NG_008649 HGNC:47652 +HGNC:47653 RNU6-690P RNA, U6 small nuclear 690, pseudogene pseudogene pseudogene Approved 8q22.1 08q22.1 2013-05-01 2013-05-01 106481398 ENSG00000202112 NG_046013 HGNC:47653 +HGNC:47655 RNU6-692P RNA, U6 small nuclear 692, pseudogene pseudogene pseudogene Approved 2q22.3 02q22.3 2013-05-01 2013-05-01 106479871 ENSG00000207225 NG_044930 HGNC:47655 +HGNC:47656 RNU6-693P RNA, U6 small nuclear 693, pseudogene pseudogene pseudogene Approved 1q24.3 01q24.3 2013-05-01 2013-05-01 106481399 ENSG00000251943 NG_044873 HGNC:47656 +HGNC:47657 RNU6-694P RNA, U6 small nuclear 694, pseudogene pseudogene pseudogene Approved 9p24.2 09p24.2 2013-05-01 2013-05-01 106479872 ENSG00000200941 NG_042903 HGNC:47657 +HGNC:47658 RNU6-695P RNA, U6 small nuclear 695, pseudogene pseudogene pseudogene Approved 1p22.2 01p22.2 2013-05-01 2013-05-01 106481400 ENSG00000212459 NG_044880 HGNC:47658 +HGNC:47659 RNU6-696P RNA, U6 small nuclear 696, pseudogene pseudogene pseudogene Approved 21q22.13 21q22.13 2013-05-01 2013-05-01 106479873 ENSG00000212136 NG_042909 HGNC:47659 +HGNC:47660 RNU6-697P RNA, U6 small nuclear 697, pseudogene pseudogene pseudogene Approved 10q22.1 10q22.1 2013-05-01 2013-05-01 106479874 ENSG00000200218 NG_045244 HGNC:47660 +HGNC:47661 RNU6-698P RNA, U6 small nuclear 698, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 2013-05-01 2013-05-01 106481401 ENSG00000200393 NG_044890 HGNC:47661 +HGNC:47662 RNU6-699P RNA, U6 small nuclear 699, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 2013-05-01 2013-05-01 106479875 ENSG00000252890 NG_042923 HGNC:47662 +HGNC:47663 RNU6-700P RNA, U6 small nuclear 700, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 2013-05-01 2013-05-01 106480398 ENSG00000212345 NG_043017 HGNC:47663 +HGNC:47664 RNU6-701P RNA, U6 small nuclear 701, pseudogene pseudogene pseudogene Approved 5q23.1 05q23.1 2013-05-01 2013-05-01 106481402 ENSG00000206786 NG_046029 HGNC:47664 +HGNC:47665 RNU6-702P RNA, U6 small nuclear 702, pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 2013-05-01 2013-05-01 106481912 ENSG00000201852 NG_044882 HGNC:47665 +HGNC:47666 RNU6-703P RNA, U6 small nuclear 703, pseudogene pseudogene pseudogene Approved 8q22.2 08q22.2 2013-05-01 2013-05-01 106479876 ENSG00000252755 NG_042930 HGNC:47666 +HGNC:47667 RNU6-704P RNA, U6 small nuclear 704, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 2013-05-01 2013-05-01 106479877 ENSG00000201032 NG_042939 HGNC:47667 +HGNC:47668 RNU6-705P RNA, U6 small nuclear 705, pseudogene pseudogene pseudogene Approved 5q35.3 05q35.3 2013-05-01 2013-05-01 106481403 ENSG00000222533 NG_044905 HGNC:47668 +HGNC:47669 RNU6-706P RNA, U6 small nuclear 706, pseudogene pseudogene pseudogene Approved 18q12.2 18q12.2 2013-05-01 2013-05-01 106479878 ENSG00000253038 NG_042947 HGNC:47669 +HGNC:47670 RNU6-707P RNA, U6 small nuclear 707, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 2013-05-01 2013-05-01 107075318 ENSG00000201517 NG_046374 HGNC:47670 +HGNC:47671 RNU6-708P RNA, U6 small nuclear 708, pseudogene pseudogene pseudogene Approved 18q21.1 18q21.1 2013-05-01 2013-05-01 106480602 ENSG00000206944 NG_044635 HGNC:47671 +HGNC:47672 RNU6-709P RNA, U6 small nuclear 709, pseudogene pseudogene pseudogene Approved 10q25.3 10q25.3 2013-05-01 2013-05-01 106479879 ENSG00000253066 NG_042955 HGNC:47672 +HGNC:47673 RNU6-710P RNA, U6 small nuclear 710, pseudogene pseudogene pseudogene Approved 9q31.3 09q31.3 2013-05-01 2013-05-01 106479880 ENSG00000222356 NG_042964 HGNC:47673 +HGNC:47674 RNU6-711P RNA, U6 small nuclear 711, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-05-01 2013-05-01 106479881 ENSG00000253064 NG_042973 HGNC:47674 +HGNC:47675 RNU6-712P RNA, U6 small nuclear 712, pseudogene pseudogene pseudogene Approved 3p11.1 03p11.1 2013-05-01 2013-05-01 106481404 ENSG00000222490 NG_044913 HGNC:47675 +HGNC:47676 RNU6-713P RNA, U6 small nuclear 713, pseudogene pseudogene pseudogene Approved 12q12 12q12 2013-05-01 2013-05-01 106479882 ENSG00000207492 NG_042981 HGNC:47676 +HGNC:47677 RNU6-714P RNA, U6 small nuclear 714, pseudogene pseudogene pseudogene Approved 9q22.31 09q22.31 2013-05-01 2013-05-01 106480603 ENSG00000252772 NG_045925 HGNC:47677 +HGNC:47678 RNU6-715P RNA, U6 small nuclear 715, pseudogene pseudogene pseudogene Approved 2q22.3 02q22.3 2013-05-01 2013-05-01 106481405 ENSG00000202074 NG_044919 HGNC:47678 +HGNC:47679 RNU6-716P RNA, U6 small nuclear 716, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 2013-05-01 2013-05-01 106479883 ENSG00000202491 NG_042989 HGNC:47679 +HGNC:47680 RNU6-717P RNA, U6 small nuclear 717, pseudogene pseudogene pseudogene Approved 12q24.33 12q24.33 2013-05-01 2013-05-01 106479884 ENSG00000239190 NG_042998 HGNC:47680 +HGNC:47681 RNU6-718P RNA, U6 small nuclear 718, pseudogene pseudogene pseudogene Approved 5q23.1 05q23.1 2013-05-01 2013-05-01 106481406 ENSG00000251975 NG_044925 HGNC:47681 +HGNC:47682 RNU6-719P RNA, U6 small nuclear 719, pseudogene pseudogene pseudogene Approved 7p14.1 07p14.1 2013-05-01 2013-05-01 106481913 ENSG00000252480 NG_046025 HGNC:47682 +HGNC:47683 RNU6-720P RNA, U6 small nuclear 720, pseudogene pseudogene pseudogene Approved 3q25.1 03q25.1 2013-05-01 2013-05-01 106479885 ENSG00000252172 NG_043008 HGNC:47683 +HGNC:47684 RNU6-721P RNA, U6 small nuclear 721, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 2013-05-01 2013-05-01 106481774 ENSG00000222087 NG_045580 HGNC:47684 +HGNC:47685 RNU6-722P RNA, U6 small nuclear 722, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 2013-05-01 2013-05-01 106481407 ENSG00000223309 NG_044935 HGNC:47685 +HGNC:47686 RNU6-723P RNA, U6 small nuclear 723, pseudogene pseudogene pseudogene Approved 1p33 01p33 2013-05-01 2013-05-01 106479886 ENSG00000206700 NG_043016 HGNC:47686 +HGNC:47687 RNU6-724P RNA, U6 small nuclear 724, pseudogene pseudogene pseudogene Approved 5q13.2 05q13.2 2013-05-01 2013-05-01 106479887 ENSG00000212260 NG_028291 HGNC:47687 +HGNC:47688 RNU6-725P RNA, U6 small nuclear 725, pseudogene pseudogene pseudogene Approved 1q43 01q43 2013-05-01 2013-05-01 106481408 ENSG00000252371 NG_045213 HGNC:47688 +HGNC:47689 RNU6-726P RNA, U6 small nuclear 726, pseudogene pseudogene pseudogene Approved 3q22.1 03q22.1 2013-05-01 2013-05-01 106480604 ENSG00000201550 NG_044648 HGNC:47689 +HGNC:47690 RNU6-727P RNA, U6 small nuclear 727, pseudogene pseudogene pseudogene Approved 5q14.3 05q14.3 2013-05-01 2013-05-01 106481409 ENSG00000200462 NG_042913 HGNC:47690 +HGNC:47691 RNU6-728P RNA, U6 small nuclear 728, pseudogene pseudogene pseudogene Approved 10q26.13 10q26.13 2013-05-01 2013-05-01 106479888 ENSG00000202245 NG_043033 HGNC:47691 +HGNC:47692 RNU6-729P RNA, U6 small nuclear 729, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 2013-05-01 2013-05-01 106481410 ENSG00000207128 NG_042918 HGNC:47692 +HGNC:47693 RNU6-730P RNA, U6 small nuclear 730, pseudogene pseudogene pseudogene Approved 6q27 06q27 2013-05-01 2013-05-01 106479889 ENSG00000206681 NG_043044 HGNC:47693 +HGNC:47694 RNU6-731P RNA, U6 small nuclear 731, pseudogene pseudogene pseudogene Approved 1p36.31 01p36.31 2013-05-01 2013-05-01 106481411 ENSG00000253022 NG_042928 HGNC:47694 +HGNC:47695 RNU6-732P RNA, U6 small nuclear 732, pseudogene pseudogene pseudogene Approved 5q32 05q32 2013-05-01 2013-05-01 106479890 ENSG00000251842 NG_045293 HGNC:47695 +HGNC:47696 RNU6-733P RNA, U6 small nuclear 733, pseudogene pseudogene pseudogene Approved 4q25 04q25 2013-05-01 2013-05-01 106479891 ENSG00000222691 NG_045297 HGNC:47696 +HGNC:47698 RNU6-735P RNA, U6 small nuclear 735, pseudogene pseudogene pseudogene Approved 12q22 12q22 2013-05-01 2013-05-01 106481412 ENSG00000222544 NG_042936 HGNC:47698 +HGNC:47700 RNU6-737P RNA, U6 small nuclear 737, pseudogene pseudogene pseudogene Approved 18q21.31 18q21.31 2013-05-01 2013-05-01 106481914 ENSG00000202240 NG_044897 HGNC:47700 +HGNC:47701 RNU6-738P RNA, U6 small nuclear 738, pseudogene pseudogene pseudogene Approved 5p14.1 05p14.1 2013-05-01 2013-05-01 106479892 ENSG00000207261 NG_043069 HGNC:47701 +HGNC:47702 RNU6-739P RNA, U6 small nuclear 739, pseudogene pseudogene pseudogene Approved 3p14.1 03p14.1 2013-05-01 2013-05-01 106481413 ENSG00000212340 NG_042944 HGNC:47702 +HGNC:47703 RNU6-740P RNA, U6 small nuclear 740, pseudogene pseudogene pseudogene Approved 10q23.31 10q23.31 2013-05-01 2013-05-01 106479893 ENSG00000201604 NG_023227 HGNC:47703 +HGNC:47704 RNU6-741P RNA, U6 small nuclear 741, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-05-01 2013-05-01 106479894 ENSG00000206616 NG_043085 HGNC:47704 +HGNC:47705 RNU6-742P RNA, U6 small nuclear 742, pseudogene pseudogene pseudogene Approved 18q21.31 18q21.31 2013-05-01 2013-05-01 106481414 ENSG00000202159 NG_007148 HGNC:47705 +HGNC:47706 RNU6-743P RNA, U6 small nuclear 743, pseudogene pseudogene pseudogene Approved 20q13.11 20q13.11 2013-05-01 2013-05-01 106480605 ENSG00000201021 NG_044655 HGNC:47706 +HGNC:47707 RNU6-744P RNA, U6 small nuclear 744, pseudogene pseudogene pseudogene Approved 2q14.1 02q14.1 2013-05-01 2013-05-01 106479895 ENSG00000202427 NG_045018 HGNC:47707 +HGNC:47708 RNU6-745P RNA, U6 small nuclear 745, pseudogene pseudogene pseudogene Approved 15q23 15q23 2013-05-01 2013-05-01 106481415 ENSG00000200216 NG_042960 HGNC:47708 +HGNC:47709 RNU6-746P RNA, U6 small nuclear 746, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-05-01 2013-05-01 106479896 ENSG00000206839 NG_043102 HGNC:47709 +HGNC:47710 RNU6-747P RNA, U6 small nuclear 747, pseudogene pseudogene pseudogene Approved 1q43 01q43 2013-05-01 2013-05-01 106480399 ENSG00000212230 NG_045286 HGNC:47710 +HGNC:47711 RNU6-748P RNA, U6 small nuclear 748, pseudogene pseudogene pseudogene Approved 8q22.2 08q22.2 2013-05-01 2013-05-01 106481416 ENSG00000207378 NG_045267 HGNC:47711 +HGNC:47712 RNU6-749P RNA, U6 small nuclear 749, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-05-01 2013-05-01 106480606 ENSG00000238489 NG_045936 HGNC:47712 +HGNC:47713 RNU6-750P RNA, U6 small nuclear 750, pseudogene pseudogene pseudogene Approved 1p21.2 01p21.2 2013-05-01 2013-05-01 106479897 ENSG00000212248 NG_033857 HGNC:47713 +HGNC:47714 RNU6-751P RNA, U6 small nuclear 751, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 2013-05-01 2013-05-01 106479898 ENSG00000252191 NG_043120 HGNC:47714 +HGNC:47715 RNU6-752P RNA, U6 small nuclear 752, pseudogene pseudogene pseudogene Approved 5q23.2 05q23.2 2013-05-01 2013-05-01 106481417 ENSG00000252185 NG_042979 HGNC:47715 +HGNC:47716 RNU6-753P RNA, U6 small nuclear 753, pseudogene pseudogene pseudogene Approved 1p34.3 01p34.3 2013-05-01 2013-05-01 106479899 ENSG00000200796 NG_043128 HGNC:47716 +HGNC:47717 RNU6-754P RNA, U6 small nuclear 754, pseudogene pseudogene pseudogene Approved 6p21.1 06p21.1 2013-05-01 2013-05-01 106481418 ENSG00000212468 NG_042985 HGNC:47717 +HGNC:47718 RNU6-755P RNA, U6 small nuclear 755, pseudogene pseudogene pseudogene Approved 1q23.3 01q23.3 2013-05-01 2013-05-01 106481915 ENSG00000201270 NG_044907 HGNC:47718 +HGNC:47719 RNU6-756P RNA, U6 small nuclear 756, pseudogene pseudogene pseudogene Approved 8q24.13 08q24.13 2013-05-01 2013-05-01 106479900 ENSG00000206724 NG_045330 HGNC:47719 +HGNC:47720 RNU6-757P RNA, U6 small nuclear 757, pseudogene pseudogene pseudogene Approved 5q31.1 05q31.1 2013-05-01 2013-05-01 106479901 ENSG00000222266 NG_045334 HGNC:47720 +HGNC:47721 RNU6-758P RNA, U6 small nuclear 758, pseudogene pseudogene pseudogene Approved 16q23.1 16q23.1 2013-05-01 2013-05-01 106481419 ENSG00000252101 NG_042993 HGNC:47721 +HGNC:47722 RNU6-759P RNA, U6 small nuclear 759, pseudogene pseudogene pseudogene Approved 20q11.22 20q11.22 2013-05-01 2013-05-01 106479902 ENSG00000252549 NG_045023 HGNC:47722 +HGNC:47723 RNU6-760P RNA, U6 small nuclear 760, pseudogene pseudogene pseudogene Approved 5p13.3 05p13.3 2013-05-01 2013-05-01 106481420 ENSG00000251887 NG_045279 HGNC:47723 +HGNC:47724 RNU6-761P RNA, U6 small nuclear 761, pseudogene pseudogene pseudogene Approved 6p21.1 06p21.1 2013-05-01 2013-05-01 106480607 ENSG00000206875 NG_041939 HGNC:47724 +HGNC:47725 RNU6-762P RNA, U6 small nuclear 762, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-05-01 2013-05-01 106479903 ENSG00000252916 NG_045343 HGNC:47725 +HGNC:47726 RNU6-763P RNA, U6 small nuclear 763, pseudogene pseudogene pseudogene Approved 2q31.1 02q31.1 2013-05-01 2013-05-01 106481421 ENSG00000212167 NG_043011 HGNC:47726 +HGNC:47727 RNU6-764P RNA, U6 small nuclear 764, pseudogene pseudogene pseudogene Approved Xq28 Xq28 2013-05-01 2013-05-01 106479904 ENSG00000252205 NG_007102 HGNC:47727 +HGNC:47728 RNU6-765P RNA, U6 small nuclear 765, pseudogene pseudogene pseudogene Approved 9p13.1 09p13.1 2013-05-01 2013-05-01 106479905 ENSG00000252725 NG_043174 HGNC:47728 +HGNC:47729 RNU6-766P RNA, U6 small nuclear 766, pseudogene pseudogene pseudogene Approved 2q24.3 02q24.3 2013-05-01 2013-05-01 106481422 ENSG00000199348 NG_043020 HGNC:47729 +HGNC:47730 RNU6-767P RNA, U6 small nuclear 767, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-05-01 2013-05-01 106481916 ENSG00000206859 NG_046034 HGNC:47730 +HGNC:47731 RNU6-768P RNA, U6 small nuclear 768, pseudogene pseudogene pseudogene Approved 12q23.1 12q23.1 2013-05-01 2013-05-01 106481775 ENSG00000207414 NG_045584 HGNC:47731 +HGNC:47732 RNU6-769P RNA, U6 small nuclear 769, pseudogene pseudogene pseudogene Approved 12q13.12 12q13.12 2013-05-01 2013-05-01 106479906 ENSG00000207136 NG_045354 HGNC:47732 +HGNC:47733 RNU6-770P RNA, U6 small nuclear 770, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106481423 ENSG00000200799 NG_045289 HGNC:47733 +HGNC:47734 RNU6-771P RNA, U6 small nuclear 771, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 RNU6-1185P RNA, U6 small nuclear 1185, pseudogene 2013-05-01 2016-02-10 106479907 ENSG00000207511 NG_043193 HGNC:47734 +HGNC:47735 RNU6-772P RNA, U6 small nuclear 772, pseudogene pseudogene pseudogene Approved 21q21.1 21q21.1 2013-05-01 2013-05-01 106479908 ENSG00000251851 NG_043201 HGNC:47735 +HGNC:47737 RNU6-774P RNA, U6 small nuclear 774, pseudogene pseudogene pseudogene Approved 4q21.23 04q21.23 2013-05-01 2013-05-01 106481425 ENSG00000200108 NG_043048 HGNC:47737 +HGNC:47738 RNU6-775P RNA, U6 small nuclear 775, pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 2013-05-01 2013-05-01 106479909 ENSG00000238619 NG_045030 HGNC:47738 +HGNC:47739 RNU6-776P RNA, U6 small nuclear 776, pseudogene pseudogene pseudogene Approved 1p36.12 01p36.12 2013-05-01 2013-05-01 106480608 ENSG00000201273 NG_045947 HGNC:47739 +HGNC:47740 RNU6-777P RNA, U6 small nuclear 777, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 2013-05-01 2013-05-01 106481426 ENSG00000201135 NG_029573 HGNC:47740 +HGNC:47741 RNU6-778P RNA, U6 small nuclear 778, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 2013-05-01 2013-05-01 106479910 ENSG00000200139 NG_043219 HGNC:47741 +HGNC:47743 RNU6-780P RNA, U6 small nuclear 780, pseudogene pseudogene pseudogene Approved 10q23.2 10q23.2 2013-05-01 2013-05-01 106481427 ENSG00000212332 NG_043064 HGNC:47743 +HGNC:47744 RNU6-781P RNA, U6 small nuclear 781, pseudogene pseudogene pseudogene Approved 12p13.31 12p13.31 2013-05-01 2013-05-01 106479911 ENSG00000252186 NG_043230 HGNC:47744 +HGNC:47745 RNU6-782P RNA, U6 small nuclear 782, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 2013-05-01 2013-05-01 106481917 ENSG00000252661 NG_046040 HGNC:47745 +HGNC:47746 RNU6-783P RNA, U6 small nuclear 783, pseudogene pseudogene pseudogene Approved 11p14.3 11p14.3 2013-05-01 2013-05-01 106479912 ENSG00000252519 NG_043239 HGNC:47746 +HGNC:47747 RNU6-784P RNA, U6 small nuclear 784, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 2013-05-01 2013-05-01 106481428 ENSG00000207058 NG_043071 HGNC:47747 +HGNC:47748 RNU6-785P RNA, U6 small nuclear 785, pseudogene pseudogene pseudogene Approved 9q34.3 09q34.3 2013-05-01 2013-05-01 106479913 ENSG00000223256 NG_043250 HGNC:47748 +HGNC:47749 RNU6-786P RNA, U6 small nuclear 786, pseudogene pseudogene pseudogene Approved 6q25.3 06q25.3 2013-05-01 2013-05-01 106481429 ENSG00000252658 NG_045309 HGNC:47749 +HGNC:47750 RNU6-787P RNA, U6 small nuclear 787, pseudogene pseudogene pseudogene Approved 3p14.1 03p14.1 2013-05-01 2013-05-01 106479914 ENSG00000206759 NG_043259 HGNC:47750 +HGNC:47751 RNU6-788P RNA, U6 small nuclear 788, pseudogene pseudogene pseudogene Approved 3p24.3 03p24.3 2013-05-01 2013-05-01 106480609 ENSG00000212269 NG_044684 HGNC:47751 +HGNC:47752 RNU6-789P RNA, U6 small nuclear 789, pseudogene pseudogene pseudogene Approved 3q22.3 03q22.3 2013-05-01 2013-05-01 106479915 ENSG00000252914 NG_045379 HGNC:47752 +HGNC:47753 RNU6-790P RNA, U6 small nuclear 790, pseudogene pseudogene pseudogene Approved 14q32.31 14q32.31 2013-05-01 2013-05-01 106481430 ENSG00000207208 NG_047069 HGNC:47753 +HGNC:47754 RNU6-791P RNA, U6 small nuclear 791, pseudogene pseudogene pseudogene Approved 1q41 01q41 2013-05-01 2013-05-01 106479916 ENSG00000222399 NG_045382 HGNC:47754 +HGNC:47755 RNU6-792P RNA, U6 small nuclear 792, pseudogene pseudogene pseudogene Approved 1p13.2 01p13.2 2013-05-01 2013-05-01 106481431 ENSG00000200360 NG_032119 HGNC:47755 +HGNC:47756 RNU6-793P RNA, U6 small nuclear 793, pseudogene pseudogene pseudogene Approved 6p23 06p23 2013-05-01 2013-05-01 106479917 ENSG00000206960 NG_043289 HGNC:47756 +HGNC:47757 RNU6-794P RNA, U6 small nuclear 794, pseudogene pseudogene pseudogene Approved 10p11.21 10p11.21 2013-05-01 2013-05-01 106480400 ENSG00000253070 NG_043035 HGNC:47757 +HGNC:47758 RNU6-795P RNA, U6 small nuclear 795, pseudogene pseudogene pseudogene Approved 10p11.1 10p11.1 2013-05-01 2013-05-01 106480610 ENSG00000252132 NG_044692 HGNC:47758 +HGNC:47759 RNU6-796P RNA, U6 small nuclear 796, pseudogene pseudogene pseudogene Approved 15q25.3 15q25.3 2013-05-01 2013-05-01 106481432 ENSG00000212388 NG_043107 HGNC:47759 +HGNC:47760 RNU6-797P RNA, U6 small nuclear 797, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-05-01 2013-05-01 106479918 ENSG00000199971 NG_043296 HGNC:47760 +HGNC:47761 RNU6-798P RNA, U6 small nuclear 798, pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 2013-05-01 2013-05-01 106479919 ENSG00000252721 NG_043303 HGNC:47761 +HGNC:47762 RNU6-799P RNA, U6 small nuclear 799, pseudogene pseudogene pseudogene Approved 17p12 17p12 2013-05-01 2013-05-01 107105254 ENSG00000200437 NG_046572 HGNC:47762 +HGNC:47763 RNU6-800P RNA, U6 small nuclear 800, pseudogene pseudogene pseudogene Approved Xp22.2 Xp22.2 2013-05-01 2013-05-01 106481433 ENSG00000207202 NG_008197 HGNC:47763 +HGNC:47764 RNU6-801P RNA, U6 small nuclear 801, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-05-01 2013-05-01 106479920 ENSG00000200957 NG_043312 HGNC:47764 +HGNC:47766 RNU6-803P RNA, U6 small nuclear 803, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 2013-05-01 2013-05-01 106481434 ENSG00000251843 NG_043124 HGNC:47766 +HGNC:47767 RNU6-804P RNA, U6 small nuclear 804, pseudogene pseudogene pseudogene Approved 5q14.3 05q14.3 2013-05-01 2013-05-01 106479921 ENSG00000207013 NG_043319 HGNC:47767 +HGNC:47768 RNU6-805P RNA, U6 small nuclear 805, pseudogene pseudogene pseudogene Approved 10q22.1 10q22.1 2013-05-01 2013-05-01 106479922 ENSG00000202513 NG_033179 HGNC:47768 +HGNC:47769 RNU6-806P RNA, U6 small nuclear 806, pseudogene pseudogene pseudogene Approved 5q12.1 05q12.1 2013-05-01 2013-05-01 106481435 ENSG00000202017 NG_045328 HGNC:47769 +HGNC:47770 RNU6-807P RNA, U6 small nuclear 807, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 2013-05-01 2013-05-01 106479923 ENSG00000252614 NG_045405 HGNC:47770 +HGNC:47771 RNU6-808P RNA, U6 small nuclear 808, pseudogene pseudogene pseudogene Approved 12q22 12q22 2013-05-01 2013-05-01 106481436 ENSG00000212535 NG_045331 HGNC:47771 +HGNC:47772 RNU6-809P RNA, U6 small nuclear 809, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-05-01 2013-05-01 106479924 ENSG00000207190 NG_043344 HGNC:47772 +HGNC:47773 RNU6-810P RNA, U6 small nuclear 810, pseudogene pseudogene pseudogene Approved 22q12.1 22q12.1 2013-05-01 2013-05-01 106481437 ENSG00000200871 NG_052986 HGNC:47773 +HGNC:47774 RNU6-811P RNA, U6 small nuclear 811, pseudogene pseudogene pseudogene Approved 10p11.21 10p11.21 2013-05-01 2013-05-01 106479925 ENSG00000206796 NG_045414 HGNC:47774 +HGNC:47775 RNU6-812P RNA, U6 small nuclear 812, pseudogene pseudogene pseudogene Approved 2p12 02p12 2013-05-01 2013-05-01 106479926 ENSG00000200048 NG_043360 HGNC:47775 +HGNC:47776 RNU6-813P RNA, U6 small nuclear 813, pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 2013-05-01 2013-05-01 106481438 ENSG00000207422 NG_021198 HGNC:47776 +HGNC:47778 RNU6-815P RNA, U6 small nuclear 815, pseudogene pseudogene pseudogene Approved 3p24.3 03p24.3 2013-05-01 2013-05-01 106480611 ENSG00000206807 NG_044703 HGNC:47778 +HGNC:47779 RNU6-816P RNA, U6 small nuclear 816, pseudogene pseudogene pseudogene Approved 22q11.1 22q11.1 2013-05-01 2013-05-01 106480401 ENSG00000212216 NG_045291 HGNC:47779 +HGNC:47780 RNU6-817P RNA, U6 small nuclear 817, pseudogene pseudogene pseudogene Approved 1p13.1 01p13.1 2013-05-01 2013-05-01 106479927 ENSG00000212385 NG_045419 HGNC:47780 +HGNC:47781 RNU6-818P RNA, U6 small nuclear 818, pseudogene pseudogene pseudogene Approved 4q22.1 04q22.1 2013-05-01 2013-05-01 106481439 ENSG00000201707 NG_032067 HGNC:47781 +HGNC:47782 RNU6-819P RNA, U6 small nuclear 819, pseudogene pseudogene pseudogene Approved 8q11.1 08q11.1 2013-05-01 2013-05-01 106479928 ENSG00000200986 NG_043374 HGNC:47782 +HGNC:47783 RNU6-820P RNA, U6 small nuclear 820, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 2013-05-01 2013-05-01 106479929 ENSG00000207000 NG_043381 HGNC:47783 +HGNC:47784 RNU6-821P RNA, U6 small nuclear 821, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-05-01 2013-05-01 106481440 ENSG00000212297 NG_045349 HGNC:47784 +HGNC:47785 RNU6-822P RNA, U6 small nuclear 822, pseudogene pseudogene pseudogene Approved 3p24.3 03p24.3 2013-05-01 2013-05-01 106479930 ENSG00000199577 NG_043390 HGNC:47785 +HGNC:47786 RNU6-823P RNA, U6 small nuclear 823, pseudogene pseudogene pseudogene Approved 3q21.3 03q21.3 2013-05-01 2013-05-01 106481441 ENSG00000212344 NG_043179 HGNC:47786 +HGNC:47787 RNU6-824P RNA, U6 small nuclear 824, pseudogene pseudogene pseudogene Approved 6q25.2 06q25.2 2013-05-01 2013-05-01 106480612 ENSG00000200594 NG_044713 HGNC:47787 +HGNC:47789 RNU6-826P RNA, U6 small nuclear 826, pseudogene pseudogene pseudogene Approved 17q21.32 17q21.32 2013-05-01 2013-05-01 106479931 ENSG00000252636 NG_045435 HGNC:47789 +HGNC:47790 RNU6-827P RNA, U6 small nuclear 827, pseudogene pseudogene pseudogene Approved 2p12 02p12 2013-05-01 2013-05-01 106481442 ENSG00000202423 NG_043187 HGNC:47790 +HGNC:47791 RNU6-828P RNA, U6 small nuclear 828, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 2013-05-01 2013-05-01 106479932 ENSG00000201746 NG_045439 HGNC:47791 +HGNC:47792 RNU6-829P RNA, U6 small nuclear 829, pseudogene pseudogene pseudogene Approved 9q22.31 09q22.31 2013-05-01 2013-05-01 106479933 ENSG00000200570 NG_043414 HGNC:47792 +HGNC:47793 RNU6-830P RNA, U6 small nuclear 830, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2013-05-01 2013-05-01 106480613 ENSG00000252162 NG_044720 HGNC:47793 +HGNC:47794 RNU6-831P RNA, U6 small nuclear 831, pseudogene pseudogene pseudogene Approved 18p11.31 18p11.31 2013-05-01 2013-05-01 106481443 ENSG00000207278 NG_045357 HGNC:47794 +HGNC:47795 RNU6-832P RNA, U6 small nuclear 832, pseudogene pseudogene pseudogene Approved 7q11.22 07q11.22 2013-05-01 2013-05-01 106479934 ENSG00000200189 NG_043424 HGNC:47795 +HGNC:47796 RNU6-833P RNA, U6 small nuclear 833, pseudogene pseudogene pseudogene Approved 10q22.2 10q22.2 2013-05-01 2013-05-01 106481444 ENSG00000200356 NG_043206 HGNC:47796 +HGNC:47797 RNU6-834P RNA, U6 small nuclear 834, pseudogene pseudogene pseudogene Approved 12q13.12 12q13.12 2013-05-01 2013-05-01 106479935 ENSG00000199237 NG_043432 HGNC:47797 +HGNC:47798 RNU6-835P RNA, U6 small nuclear 835, pseudogene pseudogene pseudogene Approved 14q31.3 14q31.3 2013-05-01 2013-05-01 106481445 ENSG00000252783 NG_011853 HGNC:47798 +HGNC:47799 RNU6-836P RNA, U6 small nuclear 836, pseudogene pseudogene pseudogene Approved 4p14 04p14 2013-05-01 2013-05-01 106481918 ENSG00000199790 NG_013337 HGNC:47799 +HGNC:47800 RNU6-837P RNA, U6 small nuclear 837, pseudogene pseudogene pseudogene Approved 12p12.3 12p12.3 2013-05-01 2013-05-01 106479936 ENSG00000212358 NG_043439 HGNC:47800 +HGNC:47801 RNU6-838P RNA, U6 small nuclear 838, pseudogene pseudogene pseudogene Approved 4p12 04p12 2013-05-01 2013-05-01 106479937 ENSG00000200269 NG_045453 HGNC:47801 +HGNC:47802 RNU6-839P RNA, U6 small nuclear 839, pseudogene pseudogene pseudogene Approved 10q25.1 10q25.1 2013-05-01 2013-05-01 106481446 ENSG00000200217 NG_043223 HGNC:47802 +HGNC:47803 RNU6-840P RNA, U6 small nuclear 840, pseudogene pseudogene pseudogene Approved 17q12 17q12 2013-05-01 2013-05-01 106479938 ENSG00000253084 NG_045052 HGNC:47803 +HGNC:47804 RNU6-841P RNA, U6 small nuclear 841, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 2013-05-01 2013-05-01 106480699 ENSG00000206599 NG_045436 HGNC:47804 +HGNC:47805 RNU6-842P RNA, U6 small nuclear 842, pseudogene pseudogene pseudogene Approved 8p22 08p22 2013-05-01 2013-05-01 106481447 ENSG00000206996 NG_043235 HGNC:47805 +HGNC:47806 RNU6-843P RNA, U6 small nuclear 843, pseudogene pseudogene pseudogene Approved 2p24.3 02p24.3 2013-05-01 2013-05-01 106480614 ENSG00000207183 NG_044730 HGNC:47806 +HGNC:47807 RNU6-844P RNA, U6 small nuclear 844, pseudogene pseudogene pseudogene Approved 15q21.3 15q21.3 2013-05-01 2013-05-01 106479939 ENSG00000252984 NG_030584 HGNC:47807 +HGNC:47808 RNU6-845P RNA, U6 small nuclear 845, pseudogene pseudogene pseudogene Approved 16q11.2 16q11.2 2013-05-01 2013-05-01 106479940 ENSG00000199448 NG_045461 HGNC:47808 +HGNC:47810 RNU6-847P RNA, U6 small nuclear 847, pseudogene pseudogene pseudogene Approved 10p11.21 10p11.21 2013-05-01 2013-05-01 106481448 ENSG00000223047 NG_043244 HGNC:47810 +HGNC:47811 RNU6-848P RNA, U6 small nuclear 848, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 2013-05-01 2013-05-01 106479941 ENSG00000251757 NG_045464 HGNC:47811 +HGNC:47812 RNU6-849P RNA, U6 small nuclear 849, pseudogene pseudogene pseudogene Approved 7q21.11 07q21.11 2013-05-01 2013-05-01 106481449 ENSG00000206818 NG_043255 HGNC:47812 +HGNC:47813 RNU6-850P RNA, U6 small nuclear 850, pseudogene pseudogene pseudogene Approved 6p21.33 06p21.33 RNU6-1030P RNA, U6 small nuclear 1030, pseudogene 2013-05-01 2016-02-10 106481919 ENSG00000252743 NG_044937 HGNC:47813 +HGNC:47814 RNU6-851P RNA, U6 small nuclear 851, pseudogene pseudogene pseudogene Approved 2p22.1 02p22.1 2013-05-01 2013-05-01 106479942 ENSG00000207295 NG_045061 HGNC:47814 +HGNC:47816 RNU6-853P RNA, U6 small nuclear 853, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 2013-05-01 2013-05-01 106479943 ENSG00000201176 NG_045470 HGNC:47816 +HGNC:47817 RNU6-854P RNA, U6 small nuclear 854, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-05-01 2013-05-01 106481450 ENSG00000200906 NG_043264 HGNC:47817 +HGNC:47818 RNU6-855P RNA, U6 small nuclear 855, pseudogene pseudogene pseudogene Approved 9q32 09q32 2013-05-01 2013-05-01 106479944 ENSG00000222327 NG_043496 HGNC:47818 +HGNC:47819 RNU6-856P RNA, U6 small nuclear 856, pseudogene pseudogene pseudogene Approved 3p21.1 03p21.1 2013-05-01 2013-05-01 106481451 ENSG00000252768 NG_045381 HGNC:47819 +HGNC:47820 RNU6-857P RNA, U6 small nuclear 857, pseudogene pseudogene pseudogene Approved 18q12.1 18q12.1 2013-05-01 2013-05-01 106480615 ENSG00000251702 NG_044739 HGNC:47820 +HGNC:47821 RNU6-858P RNA, U6 small nuclear 858, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-05-01 2013-05-01 106479945 ENSG00000199306 NG_033072 HGNC:47821 +HGNC:47822 RNU6-859P RNA, U6 small nuclear 859, pseudogene pseudogene pseudogene Approved 21q22.3 21q22.3 2013-05-01 2013-05-01 106481452 ENSG00000199598 NG_043283 HGNC:47822 +HGNC:47823 RNU6-860P RNA, U6 small nuclear 860, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-05-01 2013-05-01 106479946 ENSG00000222792 NG_043514 HGNC:47823 +HGNC:47824 RNU6-861P RNA, U6 small nuclear 861, pseudogene pseudogene pseudogene Approved 6q22.33 06q22.33 2013-05-01 2013-05-01 106479947 ENSG00000252554 NG_043523 HGNC:47824 +HGNC:47825 RNU6-862P RNA, U6 small nuclear 862, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-05-01 2013-05-01 106481920 ENSG00000199674 NG_045236 HGNC:47825 +HGNC:47826 RNU6-863P RNA, U6 small nuclear 863, pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 2013-05-01 2013-05-01 106481453 ENSG00000251798 NG_045035 HGNC:47826 +HGNC:47827 RNU6-864P RNA, U6 small nuclear 864, pseudogene pseudogene pseudogene Approved 14q12 14q12 2013-05-01 2013-05-01 106481776 ENSG00000252065 NG_043814 HGNC:47827 +HGNC:47828 RNU6-865P RNA, U6 small nuclear 865, pseudogene pseudogene pseudogene Approved 3q12.2 03q12.2 2013-05-01 2013-05-01 106479948 ENSG00000201642 NG_043531 HGNC:47828 +HGNC:47829 RNU6-866P RNA, U6 small nuclear 866, pseudogene pseudogene pseudogene Approved 17q12 17q12 2013-05-01 2015-02-05 106481454 ENSG00000274607 NG_045390 HGNC:47829 +HGNC:47830 RNU6-867P RNA, U6 small nuclear 867, pseudogene pseudogene pseudogene Approved Xq13.3 Xq13.3 2013-05-01 2013-05-01 106479949 ENSG00000201826 NG_043539 HGNC:47830 +HGNC:47832 RNU6-869P RNA, U6 small nuclear 869, pseudogene pseudogene pseudogene Approved 8q24.21 08q24.21 2013-05-01 2013-05-01 106480616 ENSG00000207138 NG_044746 HGNC:47832 +HGNC:47834 RNU6-871P RNA, U6 small nuclear 871, pseudogene pseudogene pseudogene Approved 12q14.1 12q14.1 2013-05-01 2013-05-01 106479950 ENSG00000251931 NG_043548 HGNC:47834 +HGNC:47836 RNU6-873P RNA, U6 small nuclear 873, pseudogene pseudogene pseudogene Approved 3p11.2 03p11.2 2013-05-01 2013-05-01 106479951 ENSG00000200703 NG_043556 HGNC:47836 +HGNC:47837 RNU6-874P RNA, U6 small nuclear 874, pseudogene pseudogene pseudogene Approved 11q24.3 11q24.3 2013-05-01 2013-05-01 106479952 ENSG00000199260 NG_043566 HGNC:47837 +HGNC:47838 RNU6-875P RNA, U6 small nuclear 875, pseudogene pseudogene pseudogene Approved 8q24.13 08q24.13 2013-05-01 2013-05-01 106479953 ENSG00000252297 NG_043574 HGNC:47838 +HGNC:47839 RNU6-876P RNA, U6 small nuclear 876, pseudogene pseudogene pseudogene Approved 11q24.3 11q24.3 2013-05-01 2013-05-01 106481455 ENSG00000212597 NG_045394 HGNC:47839 +HGNC:47840 RNU6-877P RNA, U6 small nuclear 877, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2013-05-01 2013-05-01 106480617 ENSG00000206595 NG_044755 HGNC:47840 +HGNC:47841 RNU6-878P RNA, U6 small nuclear 878, pseudogene pseudogene pseudogene Approved 11p15.5 11p15.5 2013-05-01 2013-05-01 106479954 ENSG00000207308 NG_043582 HGNC:47841 +HGNC:47842 RNU6-879P RNA, U6 small nuclear 879, pseudogene pseudogene pseudogene Approved 12q13.3 12q13.3 2013-05-01 2013-05-01 106481456 ENSG00000201198 NG_043315 HGNC:47842 +HGNC:47843 RNU6-880P RNA, U6 small nuclear 880, pseudogene pseudogene pseudogene Approved 1p34.2 01p34.2 2013-05-01 2013-05-01 106479955 ENSG00000207256 NG_043593 HGNC:47843 +HGNC:47844 RNU6-881P RNA, U6 small nuclear 881, pseudogene pseudogene pseudogene Approved 9q34.13 09q34.13 2013-05-01 2013-05-01 106479956 ENSG00000252622 NG_045503 HGNC:47844 +HGNC:47845 RNU6-882P RNA, U6 small nuclear 882, pseudogene pseudogene pseudogene Approved 3p25.3 03p25.3 2013-05-01 2013-05-01 106481457 ENSG00000212327 NG_045400 HGNC:47845 +HGNC:47846 RNU6-883P RNA, U6 small nuclear 883, pseudogene pseudogene pseudogene Approved 10q22.2 10q22.2 2013-05-01 2013-05-01 106481921 ENSG00000207327 NG_045240 HGNC:47846 +HGNC:47847 RNU6-884P RNA, U6 small nuclear 884, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-05-01 2013-05-01 106479957 ENSG00000200759 NG_043606 HGNC:47847 +HGNC:47848 RNU6-885P RNA, U6 small nuclear 885, pseudogene pseudogene pseudogene Approved 10q11.21 10q11.21 2013-05-01 2013-05-01 106481458 ENSG00000252416 NG_046921 HGNC:47848 +HGNC:47849 RNU6-886P RNA, U6 small nuclear 886, pseudogene pseudogene pseudogene Approved 14q21.1 14q21.1 2013-05-01 2013-05-01 106479958 ENSG00000207046 NG_027724 HGNC:47849 +HGNC:47850 RNU6-887P RNA, U6 small nuclear 887, pseudogene pseudogene pseudogene Approved 4p14 04p14 2013-05-01 2013-05-01 106481459 ENSG00000222592 NG_043340 HGNC:47850 +HGNC:47851 RNU6-888P RNA, U6 small nuclear 888, pseudogene pseudogene pseudogene Approved 5q31.2 05q31.2 2013-05-01 2013-05-01 106479959 ENSG00000199880 NG_045512 HGNC:47851 +HGNC:47852 RNU6-889P RNA, U6 small nuclear 889, pseudogene pseudogene pseudogene Approved 10p15.3 10p15.3 2013-05-01 2013-05-01 106480402 ENSG00000252998 NG_043054 HGNC:47852 +HGNC:47853 RNU6-890P RNA, U6 small nuclear 890, pseudogene pseudogene pseudogene Approved 6p21.1 06p21.1 2013-05-01 2013-05-01 106480618 ENSG00000206848 NG_045973 HGNC:47853 +HGNC:47854 RNU6-891P RNA, U6 small nuclear 891, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 2013-05-01 2013-05-01 106479960 ENSG00000207007 NG_045079 HGNC:47854 +HGNC:47855 RNU6-892P RNA, U6 small nuclear 892, pseudogene pseudogene pseudogene Approved 8p21.3 08p21.3 2013-05-01 2013-05-01 106481460 ENSG00000222267 NG_043347 HGNC:47855 +HGNC:47856 RNU6-893P RNA, U6 small nuclear 893, pseudogene pseudogene pseudogene Approved 11q23.1 11q23.1 2013-05-01 2013-05-01 106479961 ENSG00000238444 NG_043636 HGNC:47856 +HGNC:47857 RNU6-894P RNA, U6 small nuclear 894, pseudogene pseudogene pseudogene Approved Xp21.2 Xp21.2 2013-05-01 2013-05-01 106481461 ENSG00000252903 NG_012232 HGNC:47857 +HGNC:47858 RNU6-895P RNA, U6 small nuclear 895, pseudogene pseudogene pseudogene Approved 8p11.21 08p11.21 2013-05-01 2013-05-01 106479962 ENSG00000206852 NG_043641 HGNC:47858 +HGNC:47859 RNU6-896P RNA, U6 small nuclear 896, pseudogene pseudogene pseudogene Approved 6q25.2 06q25.2 2013-05-01 2013-05-01 106481922 ENSG00000199246 NG_042919 HGNC:47859 +HGNC:47860 RNU6-897P RNA, U6 small nuclear 897, pseudogene pseudogene pseudogene Approved 6q16.3 06q16.3 2013-05-01 2013-05-01 106479963 ENSG00000252944 NG_043650 HGNC:47860 +HGNC:47861 RNU6-898P RNA, U6 small nuclear 898, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 2013-05-01 2013-05-01 106481462 ENSG00000202497 NG_043364 HGNC:47861 +HGNC:47862 RNU6-899P RNA, U6 small nuclear 899, pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 2013-05-01 2013-05-01 106479964 ENSG00000200817 NG_043659 HGNC:47862 +HGNC:47863 RNU6-900P RNA, U6 small nuclear 900, pseudogene pseudogene pseudogene Approved 22q13.1 22q13.1 2013-05-01 2013-05-01 106481463 ENSG00000207227 NG_045423 HGNC:47863 +HGNC:47864 RNU6-901P RNA, U6 small nuclear 901, pseudogene pseudogene pseudogene Approved 3q25.2 03q25.2 2013-05-01 2013-05-01 106479965 ENSG00000207323 NG_043664 HGNC:47864 +HGNC:47865 RNU6-902P RNA, U6 small nuclear 902, pseudogene pseudogene pseudogene Approved 19q13.31 19q13.31 2013-05-01 2013-05-01 106480619 ENSG00000253021 NG_045196 HGNC:47865 +HGNC:47866 RNU6-903P RNA, U6 small nuclear 903, pseudogene pseudogene pseudogene Approved 18p11.22 18p11.22 2013-05-01 2013-05-01 106481464 ENSG00000212572 NG_043376 HGNC:47866 +HGNC:47867 RNU6-904P RNA, U6 small nuclear 904, pseudogene pseudogene pseudogene Approved 2q22.1 02q22.1 2013-05-01 2013-05-01 106479966 ENSG00000252015 NG_051023 HGNC:47867 +HGNC:47868 RNU6-905P RNA, U6 small nuclear 905, pseudogene pseudogene pseudogene Approved 3p25.1 03p25.1 2013-05-01 2013-05-01 106479967 ENSG00000207163 NG_045540 HGNC:47868 +HGNC:47869 RNU6-906P RNA, U6 small nuclear 906, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106481465 ENSG00000207431 NG_043386 HGNC:47869 +HGNC:47870 RNU6-907P RNA, U6 small nuclear 907, pseudogene pseudogene pseudogene Approved 4q22.1 04q22.1 2013-05-01 2013-05-01 106480620 ENSG00000212226 NG_045198 HGNC:47870 +HGNC:47871 RNU6-908P RNA, U6 small nuclear 908, pseudogene pseudogene pseudogene Approved 10p11.23 10p11.23 2013-05-01 2013-05-01 106479968 ENSG00000222092 NG_043687 HGNC:47871 +HGNC:47872 RNU6-909P RNA, U6 small nuclear 909, pseudogene pseudogene pseudogene Approved 5p14.1 05p14.1 2013-05-01 2013-05-01 106481466 ENSG00000252867 NG_043394 HGNC:47872 +HGNC:47873 RNU6-910P RNA, U6 small nuclear 910, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-05-01 2013-05-01 106481777 ENSG00000212146 NG_043822 HGNC:47873 +HGNC:47874 RNU6-911P RNA, U6 small nuclear 911, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-05-01 2013-05-01 106479969 ENSG00000252332 NG_045084 HGNC:47874 +HGNC:47875 RNU6-912P RNA, U6 small nuclear 912, pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 2013-05-01 2013-05-01 106479970 ENSG00000200670 NG_043701 HGNC:47875 +HGNC:47876 RNU6-913P RNA, U6 small nuclear 913, pseudogene pseudogene pseudogene Approved 5q12.1 05q12.1 2013-05-01 2013-05-01 106481467 ENSG00000212215 NG_045438 HGNC:47876 +HGNC:47877 RNU6-914P RNA, U6 small nuclear 914, pseudogene pseudogene pseudogene Approved 8q22.2 08q22.2 2013-05-01 2013-05-01 107063540 ENSG00000252558 NG_046358 HGNC:47877 +HGNC:47878 RNU6-915P RNA, U6 small nuclear 915, pseudogene pseudogene pseudogene Approved 2q32.3 02q32.3 2013-05-01 2013-05-01 106481923 ENSG00000201813 NG_045006 HGNC:47878 +HGNC:47879 RNU6-916P RNA, U6 small nuclear 916, pseudogene pseudogene pseudogene Approved 18p11.31 18p11.31 2013-05-01 2013-05-01 106481468 ENSG00000251897 NG_043409 HGNC:47879 +HGNC:47880 RNU6-917P RNA, U6 small nuclear 917, pseudogene pseudogene pseudogene Approved 20p13 20p13 2013-05-01 2013-05-01 106479971 ENSG00000252103 NG_043708 HGNC:47880 +HGNC:47881 RNU6-918P RNA, U6 small nuclear 918, pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 2013-05-01 2013-05-01 106481469 ENSG00000212521 NG_043419 HGNC:47881 +HGNC:47882 RNU6-919P RNA, U6 small nuclear 919, pseudogene pseudogene pseudogene Approved 20q13.13 20q13.13 2013-05-01 2013-05-01 106479972 ENSG00000252540 NG_043715 HGNC:47882 +HGNC:47883 RNU6-920P RNA, U6 small nuclear 920, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-05-01 2013-05-01 106481470 ENSG00000222858 NG_045445 HGNC:47883 +HGNC:47884 RNU6-921P RNA, U6 small nuclear 921, pseudogene pseudogene pseudogene Approved 14q24.1 14q24.1 2013-05-01 2013-05-01 106479973 ENSG00000207089 NG_043724 HGNC:47884 +HGNC:47885 RNU6-922P RNA, U6 small nuclear 922, pseudogene pseudogene pseudogene Approved 3p24.3 03p24.3 2013-05-01 2013-05-01 106479974 ENSG00000252562 NG_043732 HGNC:47885 +HGNC:47886 RNU6-923P RNA, U6 small nuclear 923, pseudogene pseudogene pseudogene Approved 5p13.2 05p13.2 2013-05-01 2013-05-01 106481471 ENSG00000201623 NG_045449 HGNC:47886 +HGNC:47887 RNU6-924P RNA, U6 small nuclear 924, pseudogene pseudogene pseudogene Approved 19q13.32 19q13.32 2013-05-01 2013-05-01 106480621 ENSG00000199796 NG_045981 HGNC:47887 +HGNC:47888 RNU6-925P RNA, U6 small nuclear 925, pseudogene pseudogene pseudogene Approved 8q21.3 08q21.3 2013-05-01 2013-05-01 106479975 ENSG00000207359 NG_043739 HGNC:47888 +HGNC:47889 RNU6-926P RNA, U6 small nuclear 926, pseudogene pseudogene pseudogene Approved 21q21.3 21q21.3 2013-05-01 2013-05-01 106481472 ENSG00000206802 NG_043442 HGNC:47889 +HGNC:47890 RNU6-927P RNA, U6 small nuclear 927, pseudogene pseudogene pseudogene Approved 12q24.31 12q24.31 2013-05-01 2013-05-01 106479976 ENSG00000252008 NG_043746 HGNC:47890 +HGNC:47891 RNU6-928P RNA, U6 small nuclear 928, pseudogene pseudogene pseudogene Approved 17q24.2 17q24.2 2013-05-01 2013-05-01 106479977 ENSG00000252685 NG_012206 HGNC:47891 +HGNC:47892 RNU6-929P RNA, U6 small nuclear 929, pseudogene pseudogene pseudogene Approved 20q13.31 20q13.31 2013-05-01 2013-05-01 106481473 ENSG00000207158 NG_043452 HGNC:47892 +HGNC:47893 RNU6-930P RNA, U6 small nuclear 930, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 RNU6-1173P RNA, U6 small nuclear 1173, pseudogene 2013-05-01 2016-02-10 106480622 ENSG00000212240 NG_045985 HGNC:47893 +HGNC:47894 RNU6-931P RNA, U6 small nuclear 931, pseudogene pseudogene pseudogene Approved 4p12 04p12 2013-05-01 2013-05-01 106479978 ENSG00000200720 NG_043761 HGNC:47894 +HGNC:47895 RNU6-932P RNA, U6 small nuclear 932, pseudogene pseudogene pseudogene Approved 2q24.1 02q24.1 2013-05-01 2013-05-01 106481474 ENSG00000212410 NG_045054 HGNC:47895 +HGNC:47896 RNU6-933P RNA, U6 small nuclear 933, pseudogene pseudogene pseudogene Approved 11q12.2 11q12.2 2013-05-01 2013-05-01 106479979 ENSG00000207153 NG_043766 HGNC:47896 +HGNC:47897 RNU6-934P RNA, U6 small nuclear 934, pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 2013-05-01 2013-05-01 106481475 ENSG00000202024 NG_045460 HGNC:47897 +HGNC:47898 RNU6-935P RNA, U6 small nuclear 935, pseudogene pseudogene pseudogene Approved Xp11.22 Xp11.22 2013-05-01 2013-05-01 106480403 ENSG00000222303 NG_011882 HGNC:47898 +HGNC:47899 RNU6-936P RNA, U6 small nuclear 936, pseudogene pseudogene pseudogene Approved 2p23.3 02p23.3 2013-05-01 2013-05-01 106481924 ENSG00000206732 NG_029014 HGNC:47899 +HGNC:47900 RNU6-937P RNA, U6 small nuclear 937, pseudogene pseudogene pseudogene Approved 20q11.23 20q11.23 2013-05-01 2013-05-01 106479980 ENSG00000207053 NG_043776 HGNC:47900 +HGNC:47901 RNU6-938P RNA, U6 small nuclear 938, pseudogene pseudogene pseudogene Approved 17q25.1 17q25.1 2013-05-01 2013-05-01 106479981 ENSG00000223217 NG_045576 HGNC:47901 +HGNC:47902 RNU6-939P RNA, U6 small nuclear 939, pseudogene pseudogene pseudogene Approved 2p22.2 02p22.2 2013-05-01 2013-05-01 106481476 ENSG00000207364 NG_045058 HGNC:47902 +HGNC:47903 RNU6-940P RNA, U6 small nuclear 940, pseudogene pseudogene pseudogene Approved 12q13.12 12q13.12 2013-05-01 2013-05-01 106479982 ENSG00000200303 NG_023347 HGNC:47903 +HGNC:47904 RNU6-941P RNA, U6 small nuclear 941, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2013-05-01 2013-05-01 107063612 ENSG00000252155 NG_046365 HGNC:47904 +HGNC:47905 RNU6-942P RNA, U6 small nuclear 942, pseudogene pseudogene pseudogene Approved 2p23.3 02p23.3 2013-05-01 2013-05-01 106481477 ENSG00000199872 NG_045060 HGNC:47905 +HGNC:47906 RNU6-943P RNA, U6 small nuclear 943, pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 2013-05-01 2013-05-01 106480623 ENSG00000252769 NG_045988 HGNC:47906 +HGNC:47907 RNU6-944P RNA, U6 small nuclear 944, pseudogene pseudogene pseudogene Approved 16p12.3 16p12.3 2013-05-01 2013-05-01 106479983 ENSG00000200893 NG_045583 HGNC:47907 +HGNC:47908 RNU6-945P RNA, U6 small nuclear 945, pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 2013-05-01 2013-05-01 106479984 ENSG00000206674 NG_043809 HGNC:47908 +HGNC:47909 RNU6-946P RNA, U6 small nuclear 946, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 2013-05-01 2013-05-01 106481478 ENSG00000206605 NG_030025 HGNC:47909 +HGNC:47910 RNU6-947P RNA, U6 small nuclear 947, pseudogene pseudogene pseudogene Approved 1q44 01q44 2013-05-01 2013-05-01 106479985 ENSG00000252073 NG_043818 HGNC:47910 +HGNC:47911 RNU6-948P RNA, U6 small nuclear 948, pseudogene pseudogene pseudogene Approved 4q27 04q27 2013-05-01 2013-05-01 106481479 ENSG00000252183 NG_043493 HGNC:47911 +HGNC:47912 RNU6-949P RNA, U6 small nuclear 949, pseudogene pseudogene pseudogene Approved 1p35.3 01p35.3 2013-05-01 2013-05-01 106481925 ENSG00000206767 NG_042945 HGNC:47912 +HGNC:47913 RNU6-950P RNA, U6 small nuclear 950, pseudogene pseudogene pseudogene Approved 12q13.13 12q13.13 2013-05-01 2013-05-01 106479986 ENSG00000207381 NG_043826 HGNC:47913 +HGNC:47914 RNU6-951P RNA, U6 small nuclear 951, pseudogene pseudogene pseudogene Approved 2p22.2 02p22.2 2013-05-01 2013-05-01 106481480 ENSG00000199603 NG_043501 HGNC:47914 +HGNC:47915 RNU6-952P RNA, U6 small nuclear 952, pseudogene pseudogene pseudogene Approved 11q22.2 11q22.2 2013-05-01 2013-05-01 106479987 ENSG00000212466 NG_043833 HGNC:47915 +HGNC:47916 RNU6-953P RNA, U6 small nuclear 953, pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 2013-05-01 2013-05-01 106479988 ENSG00000238941 NG_043842 HGNC:47916 +HGNC:47917 RNU6-954P RNA, U6 small nuclear 954, pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 2013-05-01 2013-05-01 106481481 ENSG00000223287 NG_045477 HGNC:47917 +HGNC:47918 RNU6-955P RNA, U6 small nuclear 955, pseudogene pseudogene pseudogene Approved 17p13.2 17p13.2 2013-05-01 2013-05-01 106480624 ENSG00000222429 NG_044813 HGNC:47918 +HGNC:47919 RNU6-956P RNA, U6 small nuclear 956, pseudogene pseudogene pseudogene Approved 7q21.3 07q21.3 2013-05-01 2013-05-01 106480404 ENSG00000239030 NG_045015 HGNC:47919 +HGNC:47920 RNU6-957P RNA, U6 small nuclear 957, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106479989 ENSG00000200522 NG_045600 HGNC:47920 +HGNC:47921 RNU6-958P RNA, U6 small nuclear 958, pseudogene pseudogene pseudogene Approved 2p21 02p21 2013-05-01 2013-05-01 106481482 ENSG00000252804 NG_051580 HGNC:47921 +HGNC:47922 RNU6-959P RNA, U6 small nuclear 959, pseudogene pseudogene pseudogene Approved 2q32.3 02q32.3 2013-05-01 2013-05-01 106479990 ENSG00000207402 NG_012852 HGNC:47922 +HGNC:47923 RNU6-960P RNA, U6 small nuclear 960, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106479991 ENSG00000200926 NG_043859 HGNC:47923 +HGNC:47924 RNU6-961P RNA, U6 small nuclear 961, pseudogene pseudogene pseudogene Approved 2p24.1 02p24.1 2013-05-01 2013-05-01 106481483 ENSG00000200763 NG_043526 HGNC:47924 +HGNC:47927 RNU6-964P RNA, U6 small nuclear 964, pseudogene pseudogene pseudogene Approved 2q36.3 02q36.3 2013-05-01 2013-05-01 106479992 ENSG00000252333 NG_045101 HGNC:47927 +HGNC:47928 RNU6-965P RNA, U6 small nuclear 965, pseudogene pseudogene pseudogene Approved 1p21.2 01p21.2 2013-05-01 2013-05-01 106481484 ENSG00000252530 NG_043535 HGNC:47928 +HGNC:47929 RNU6-966P RNA, U6 small nuclear 966, pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 2013-05-01 2013-05-01 106480625 ENSG00000252288 NG_045994 HGNC:47929 +HGNC:47930 RNU6-967P RNA, U6 small nuclear 967, pseudogene pseudogene pseudogene Approved 19q12 19q12 2013-05-01 2013-05-01 106479993 ENSG00000201894 NG_043872 HGNC:47930 +HGNC:47931 RNU6-968P RNA, U6 small nuclear 968, pseudogene pseudogene pseudogene Approved 1q42.3 01q42.3 2013-05-01 2013-05-01 106481485 ENSG00000206803 NG_043544 HGNC:47931 +HGNC:47932 RNU6-969P RNA, U6 small nuclear 969, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2013-05-01 2013-05-01 106479994 ENSG00000206627 NG_043880 HGNC:47932 +HGNC:47933 RNU6-970P RNA, U6 small nuclear 970, pseudogene pseudogene pseudogene Approved 1p22.1 01p22.1 2013-05-01 2013-05-01 106481486 ENSG00000252121 NG_043552 HGNC:47933 +HGNC:47934 RNU6-971P RNA, U6 small nuclear 971, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-05-01 2013-05-01 106481926 ENSG00000252729 NG_042953 HGNC:47934 +HGNC:47935 RNU6-972P RNA, U6 small nuclear 972, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 2013-05-01 2013-05-01 106479995 ENSG00000212510 NG_008873 HGNC:47935 +HGNC:47936 RNU6-973P RNA, U6 small nuclear 973, pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 2013-05-01 2013-05-01 106479996 ENSG00000201560 NG_045107 HGNC:47936 +HGNC:47937 RNU6-974P RNA, U6 small nuclear 974, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-05-01 2013-05-01 106481487 ENSG00000206826 NG_043560 HGNC:47937 +HGNC:47938 RNU6-975P RNA, U6 small nuclear 975, pseudogene pseudogene pseudogene Approved 6q13 06q13 2013-05-01 2013-05-01 106479997 ENSG00000207023 NG_032856 HGNC:47938 +HGNC:47939 RNU6-976P RNA, U6 small nuclear 976, pseudogene pseudogene pseudogene Approved 14q31.3 14q31.3 2013-05-01 2013-05-01 106481488 ENSG00000251895 NG_043570 HGNC:47939 +HGNC:47940 RNU6-977P RNA, U6 small nuclear 977, pseudogene pseudogene pseudogene Approved 12q21.31 12q21.31 2013-05-01 2013-05-01 106480626 ENSG00000252220 NG_046000 HGNC:47940 +HGNC:47941 RNU6-978P RNA, U6 small nuclear 978, pseudogene pseudogene pseudogene Approved 15q11.1 15q11.1 2013-05-01 2013-05-01 106479998 ENSG00000201241 NG_045626 HGNC:47941 +HGNC:47942 RNU6-979P RNA, U6 small nuclear 979, pseudogene pseudogene pseudogene Approved 7p15.1 07p15.1 2013-05-01 2013-05-01 106479999 ENSG00000206623 NG_045632 HGNC:47942 +HGNC:47943 RNU6-980P RNA, U6 small nuclear 980, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 2013-05-01 2013-05-01 106481489 ENSG00000252734 NG_043578 HGNC:47943 +HGNC:47945 RNU6-982P RNA, U6 small nuclear 982, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 2013-05-01 2013-05-01 106481979 ENSG00000252025 NG_043402 HGNC:47945 +HGNC:47946 RNU6-983P RNA, U6 small nuclear 983, pseudogene pseudogene pseudogene Approved 1q31.3 01q31.3 2013-05-01 2013-05-01 106481490 ENSG00000251813 NG_043588 HGNC:47946 +HGNC:47947 RNU6-984P RNA, U6 small nuclear 984, pseudogene pseudogene pseudogene Approved 9q31.3 09q31.3 2013-05-01 2013-05-01 106481927 ENSG00000200106 NG_045264 HGNC:47947 +HGNC:47948 RNU6-985P RNA, U6 small nuclear 985, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 2013-05-01 2013-05-01 106480001 ENSG00000222114 NG_043927 HGNC:47948 +HGNC:47949 RNU6-986P RNA, U6 small nuclear 986, pseudogene pseudogene pseudogene Approved 2p23.3 02p23.3 2013-05-01 2013-05-01 106481491 ENSG00000200003 NG_045502 HGNC:47949 +HGNC:47950 RNU6-987P RNA, U6 small nuclear 987, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 2013-05-01 2013-05-01 106480002 ENSG00000207490 NG_045643 HGNC:47950 +HGNC:47951 RNU6-988P RNA, U6 small nuclear 988, pseudogene pseudogene pseudogene Approved 8p11.23 08p11.23 2013-05-01 2015-02-05 106480003 ENSG00000253437 NG_045646 HGNC:47951 +HGNC:47952 RNU6-989P RNA, U6 small nuclear 989, pseudogene pseudogene pseudogene Approved 2q32.1 02q32.1 2013-05-01 2013-05-01 106481492 ENSG00000199626 NG_045071 HGNC:47952 +HGNC:47953 RNU6-990P RNA, U6 small nuclear 990, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-05-01 2013-05-01 106480627 ENSG00000201255 NG_044838 HGNC:47953 +HGNC:47954 RNU6-991P RNA, U6 small nuclear 991, pseudogene pseudogene pseudogene Approved 1p36.23 01p36.23 2013-05-01 2013-05-01 106480004 ENSG00000251977 NG_043949 HGNC:47954 +HGNC:47955 RNU6-992P RNA, U6 small nuclear 992, pseudogene pseudogene pseudogene Approved 21q22.12 21q22.12 2013-05-01 2013-05-01 106481493 ENSG00000200213 NG_045073 HGNC:47955 +HGNC:47956 RNU6-993P RNA, U6 small nuclear 993, pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 2013-05-01 2013-05-01 106480005 ENSG00000252962 NG_045112 HGNC:47956 +HGNC:47957 RNU6-994P RNA, U6 small nuclear 994, pseudogene pseudogene pseudogene Approved 20q13.33 20q13.33 2013-05-01 2013-05-01 106480006 ENSG00000222439 NG_043962 HGNC:47957 +HGNC:47958 RNU6-995P RNA, U6 small nuclear 995, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 2013-05-01 2013-05-01 106481494 ENSG00000212546 NG_043617 HGNC:47958 +HGNC:47959 RNU6-996P RNA, U6 small nuclear 996, pseudogene pseudogene pseudogene Approved 9q31.2 09q31.2 2013-05-01 2013-05-01 106481928 ENSG00000202308 NG_042969 HGNC:47959 +HGNC:47960 RNU6-997P RNA, U6 small nuclear 997, pseudogene pseudogene pseudogene Approved 2p16.2 02p16.2 2013-05-01 2013-05-01 106480007 ENSG00000207456 NG_045662 HGNC:47960 +HGNC:47961 RNU6-998P RNA, U6 small nuclear 998, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-05-01 2013-05-01 106481495 ENSG00000251703 NG_045513 HGNC:47961 +HGNC:47962 RNU6-999P RNA, U6 small nuclear 999, pseudogene pseudogene pseudogene Approved 1q44 01q44 2013-05-01 2013-05-01 106480008 ENSG00000251754 NG_034030 HGNC:47962 +HGNC:47963 RNU6-1000P RNA, U6 small nuclear 1000, pseudogene pseudogene pseudogene Approved 4q21.1 04q21.1 2013-05-01 2013-05-01 106481496 ENSG00000212368 NG_045517 HGNC:47963 +HGNC:47964 RNU6-1001P RNA, U6 small nuclear 1001, pseudogene pseudogene pseudogene Approved 2q24.1 02q24.1 2013-05-01 2013-05-01 106480628 ENSG00000223197 NG_044847 HGNC:47964 +HGNC:47966 RNU6-1003P RNA, U6 small nuclear 1003, pseudogene pseudogene pseudogene Approved 5p15.1 05p15.1 2013-05-01 2013-05-01 106481778 ENSG00000252908 NG_045591 HGNC:47966 +HGNC:47967 RNU6-1004P RNA, U6 small nuclear 1004, pseudogene pseudogene pseudogene Approved 12q24.31 12q24.31 2013-05-01 2013-05-01 106480009 ENSG00000252393 NG_043985 HGNC:47967 +HGNC:47968 RNU6-1005P RNA, U6 small nuclear 1005, pseudogene pseudogene pseudogene Approved 16p12.2 16p12.2 2013-05-01 2013-05-01 106481497 ENSG00000207248 NG_045520 HGNC:47968 +HGNC:47969 RNU6-1006P RNA, U6 small nuclear 1006, pseudogene pseudogene pseudogene Approved 2q31.1 02q31.1 2013-05-01 2013-05-01 106480010 ENSG00000252807 NG_045116 HGNC:47969 +HGNC:47970 RNU6-1007P RNA, U6 small nuclear 1007, pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 2013-05-01 2013-05-01 106480629 ENSG00000252395 NG_044855 HGNC:47970 +HGNC:47971 RNU6-1008P RNA, U6 small nuclear 1008, pseudogene pseudogene pseudogene Approved 1q42.11 01q42.11 2013-05-01 2013-05-01 106481498 ENSG00000206887 NG_043645 HGNC:47971 +HGNC:47972 RNU6-1009P RNA, U6 small nuclear 1009, pseudogene pseudogene pseudogene Approved 12q14.2 12q14.2 2013-05-01 2013-05-01 106481499 ENSG00000212298 NG_043653 HGNC:47972 +HGNC:47973 RNU6-1010P RNA, U6 small nuclear 1010, pseudogene pseudogene pseudogene Approved 7q32.3 07q32.3 2013-05-01 2013-05-01 106481929 ENSG00000199627 NG_045269 HGNC:47973 +HGNC:47974 RNU6-1011P RNA, U6 small nuclear 1011, pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 2013-05-01 2013-05-01 106480011 ENSG00000207399 NG_043996 HGNC:47974 +HGNC:47975 RNU6-1012P RNA, U6 small nuclear 1012, pseudogene pseudogene pseudogene Approved 12q21.1 12q21.1 2013-05-01 2013-05-01 106481500 ENSG00000252415 NG_043661 HGNC:47975 +HGNC:47976 RNU6-1013P RNA, U6 small nuclear 1013, pseudogene pseudogene pseudogene Approved 9q31.3 09q31.3 2013-05-01 2013-05-01 106480012 ENSG00000206907 NG_044005 HGNC:47976 +HGNC:47977 RNU6-1014P RNA, U6 small nuclear 1014, pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 2013-05-01 2013-05-01 106480013 ENSG00000238456 NG_044014 HGNC:47977 +HGNC:47978 RNU6-1015P RNA, U6 small nuclear 1015, pseudogene pseudogene pseudogene Approved Xq23 Xq23 2013-05-01 2013-05-01 106481501 ENSG00000252930 NG_043668 HGNC:47978 +HGNC:47979 RNU6-1016P RNA, U6 small nuclear 1016, pseudogene pseudogene pseudogene Approved 6q14.1 06q14.1 2013-05-01 2013-05-01 106480630 ENSG00000252498 NG_046011 HGNC:47979 +HGNC:47980 RNU6-1017P RNA, U6 small nuclear 1017, pseudogene pseudogene pseudogene Approved 12q24.33 12q24.33 2013-05-01 2013-05-01 106480014 ENSG00000200483 NG_044021 HGNC:47980 +HGNC:47981 RNU6-1018P RNA, U6 small nuclear 1018, pseudogene pseudogene pseudogene Approved 20q12 20q12 2013-05-01 2013-05-01 106481502 ENSG00000252386 NG_043675 HGNC:47981 +HGNC:47982 RNU6-1019P RNA, U6 small nuclear 1019, pseudogene pseudogene pseudogene Approved 20p13 20p13 2013-05-01 2013-05-01 106480015 ENSG00000201294 NG_044030 HGNC:47982 +HGNC:47983 RNU6-1020P RNA, U6 small nuclear 1020, pseudogene pseudogene pseudogene Approved 9q33.3 09q33.3 2013-05-01 2013-05-01 106481503 ENSG00000200554 NG_043681 HGNC:47983 +HGNC:47984 RNU6-1021P RNA, U6 small nuclear 1021, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 2013-05-01 2013-05-01 106481930 ENSG00000200132 NG_045273 HGNC:47984 +HGNC:47985 RNU6-1022P RNA, U6 small nuclear 1022, pseudogene pseudogene pseudogene Approved 1p36.12 01p36.12 2013-05-01 2013-05-01 106480016 ENSG00000201919 NG_045690 HGNC:47985 +HGNC:47986 RNU6-1023P RNA, U6 small nuclear 1023, pseudogene pseudogene pseudogene Approved 6p12.1 06p12.1 2013-05-01 2013-05-01 106480017 ENSG00000251946 NG_044046 HGNC:47986 +HGNC:47987 RNU6-1024P RNA, U6 small nuclear 1024, pseudogene pseudogene pseudogene Approved 3p25.1 03p25.1 2013-05-01 2013-05-01 106481504 ENSG00000206926 NG_043692 HGNC:47987 +HGNC:47988 RNU6-1025P RNA, U6 small nuclear 1025, pseudogene pseudogene pseudogene Approved 11p15.5 11p15.5 2013-05-01 2013-05-01 106480018 ENSG00000222561 NG_045695 HGNC:47988 +HGNC:47989 RNU6-1026P RNA, U6 small nuclear 1026, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2013-05-01 2013-05-01 106480631 ENSG00000207194 NG_044871 HGNC:47989 +HGNC:47990 RNU6-1027P RNA, U6 small nuclear 1027, pseudogene pseudogene pseudogene Approved 2q36.3 02q36.3 2013-05-01 2013-05-01 106481505 ENSG00000206725 NG_045544 HGNC:47990 +HGNC:47991 RNU6-1028P RNA, U6 small nuclear 1028, pseudogene pseudogene pseudogene Approved 19p13.11 19p13.11 2013-05-01 2013-05-01 106480405 ENSG00000252973 NG_045017 HGNC:47991 +HGNC:47992 RNU6-1029P RNA, U6 small nuclear 1029, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-05-01 2013-05-01 106480019 ENSG00000206836 NG_044063 HGNC:47992 +HGNC:47994 RNU6-1031P RNA, U6 small nuclear 1031, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-05-01 2013-05-01 106480020 ENSG00000207504 NG_044073 HGNC:47994 +HGNC:47995 RNU6-1032P RNA, U6 small nuclear 1032, pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 2013-05-01 2013-05-01 106481506 ENSG00000206827 NG_043705 HGNC:47995 +HGNC:47997 RNU6-1034P RNA, U6 small nuclear 1034, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-05-01 2013-05-01 106480632 ENSG00000202205 NG_044879 HGNC:47997 +HGNC:47998 RNU6-1035P RNA, U6 small nuclear 1035, pseudogene pseudogene pseudogene Approved 9q21.32 09q21.32 2013-05-01 2013-05-01 106481507 ENSG00000207206 NG_043710 HGNC:47998 +HGNC:47999 RNU6-1036P RNA, U6 small nuclear 1036, pseudogene pseudogene pseudogene Approved 5q35.3 05q35.3 2013-05-01 2013-05-01 106480021 ENSG00000206686 NG_044081 HGNC:47999 +HGNC:48000 RNU6-1037P RNA, U6 small nuclear 1037, pseudogene pseudogene pseudogene Approved 18q22.1 18q22.1 2013-05-01 2013-05-01 106481508 ENSG00000238680 NG_043719 HGNC:48000 +HGNC:48001 RNU6-1038P RNA, U6 small nuclear 1038, pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 2013-05-01 2013-05-01 106480022 ENSG00000252325 NG_044088 HGNC:48001 +HGNC:48002 RNU6-1039P RNA, U6 small nuclear 1039, pseudogene pseudogene pseudogene Approved 9q31.3 09q31.3 2013-05-01 2013-05-01 106481931 ENSG00000206658 NG_045276 HGNC:48002 +HGNC:48003 RNU6-1040P RNA, U6 small nuclear 1040, pseudogene pseudogene pseudogene Approved 8q21.2 08q21.2 2013-05-01 2013-05-01 106480023 ENSG00000206701 NG_044099 HGNC:48003 +HGNC:48004 RNU6-1041P RNA, U6 small nuclear 1041, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 2013-05-01 2013-05-01 106481509 ENSG00000252063 NG_043727 HGNC:48004 +HGNC:48005 RNU6-1042P RNA, U6 small nuclear 1042, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-05-01 2013-05-01 106480024 ENSG00000206931 NG_044108 HGNC:48005 +HGNC:48006 RNU6-1043P RNA, U6 small nuclear 1043, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 2013-05-01 2013-05-01 106481510 ENSG00000222287 NG_032135 HGNC:48006 +HGNC:48007 RNU6-1044P RNA, U6 small nuclear 1044, pseudogene pseudogene pseudogene Approved Xq13.2 Xq13.2 2013-05-01 2013-05-01 106480633 ENSG00000207486 NG_044887 HGNC:48007 +HGNC:48008 RNU6-1045P RNA, U6 small nuclear 1045, pseudogene pseudogene pseudogene Approved 2q32.3 02q32.3 2013-05-01 2013-05-01 106480025 ENSG00000252130 NG_045713 HGNC:48008 +HGNC:48009 RNU6-1046P RNA, U6 small nuclear 1046, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2013-05-01 2013-05-01 106480026 ENSG00000252347 NG_045718 HGNC:48009 +HGNC:48010 RNU6-1047P RNA, U6 small nuclear 1047, pseudogene pseudogene pseudogene Approved 3q21.3 03q21.3 2013-05-01 2013-05-01 106481511 ENSG00000201288 NG_043742 HGNC:48010 +HGNC:48011 RNU6-1048P RNA, U6 small nuclear 1048, pseudogene pseudogene pseudogene Approved 2p21 02p21 2013-05-01 2013-05-01 106480027 ENSG00000200924 NG_008247 HGNC:48011 +HGNC:48012 RNU6-1049P RNA, U6 small nuclear 1049, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 2013-05-01 2013-05-01 106481779 ENSG00000252223 NG_045595 HGNC:48012 +HGNC:48013 RNU6-1050P RNA, U6 small nuclear 1050, pseudogene pseudogene pseudogene Approved 18q12.1 18q12.1 2013-05-01 2013-05-01 106481512 ENSG00000222320 NG_043750 HGNC:48013 +HGNC:48014 RNU6-1051P RNA, U6 small nuclear 1051, pseudogene pseudogene pseudogene Approved 2q37.3 02q37.3 2013-05-01 2013-05-01 106481932 ENSG00000202341 NG_043004 HGNC:48014 +HGNC:48015 RNU6-1052P RNA, U6 small nuclear 1052, pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 2013-05-01 2013-05-01 106480028 ENSG00000223330 NG_044137 HGNC:48015 +HGNC:48016 RNU6-1053P RNA, U6 small nuclear 1053, pseudogene pseudogene pseudogene Approved 4q35.1 04q35.1 2013-05-01 2013-05-01 106481513 ENSG00000251739 NG_045566 HGNC:48016 +HGNC:48017 RNU6-1054P RNA, U6 small nuclear 1054, pseudogene pseudogene pseudogene Approved 4q26 04q26 2013-05-01 2013-05-01 106480029 ENSG00000223225 NG_045729 HGNC:48017 +HGNC:48018 RNU6-1055P RNA, U6 small nuclear 1055, pseudogene pseudogene pseudogene Approved 4q35.2 04q35.2 2013-05-01 2013-05-01 107105256 ENSG00000212387 NG_046575 HGNC:48018 +HGNC:48019 RNU6-1056P RNA, U6 small nuclear 1056, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 2013-05-01 2013-05-01 106481514 ENSG00000206723 NG_043764 HGNC:48019 +HGNC:48020 RNU6-1057P RNA, U6 small nuclear 1057, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-05-01 2013-05-01 106480030 ENSG00000252971 NG_029768 HGNC:48020 +HGNC:48022 RNU6-1059P RNA, U6 small nuclear 1059, pseudogene pseudogene pseudogene Approved 4q22.3 04q22.3 2013-05-01 2013-05-01 106480031 ENSG00000200622 NG_044156 HGNC:48022 +HGNC:48023 RNU6-1060P RNA, U6 small nuclear 1060, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-05-01 2013-05-01 106480032 ENSG00000207394 NG_044165 HGNC:48023 +HGNC:48024 RNU6-1061P RNA, U6 small nuclear 1061, pseudogene pseudogene pseudogene Approved 16q22.2 16q22.2 2013-05-01 2013-05-01 106480033 ENSG00000252339 NG_044173 HGNC:48024 +HGNC:48025 RNU6-1062P RNA, U6 small nuclear 1062, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-05-01 2013-05-01 106480634 ENSG00000206635 NG_046027 HGNC:48025 +HGNC:48027 RNU6-1064P RNA, U6 small nuclear 1064, pseudogene pseudogene pseudogene Approved 9q31.2 09q31.2 2013-05-01 2013-05-01 106481515 ENSG00000222558 NG_043772 HGNC:48027 +HGNC:48028 RNU6-1065P RNA, U6 small nuclear 1065, pseudogene pseudogene pseudogene Approved 17p12 17p12 2013-05-01 2013-05-01 106480034 ENSG00000207242 NG_044182 HGNC:48028 +HGNC:48029 RNU6-1066P RNA, U6 small nuclear 1066, pseudogene pseudogene pseudogene Approved 22q12.1 22q12.1 2013-05-01 2013-05-01 106480035 ENSG00000200443 NG_044190 HGNC:48029 +HGNC:48030 RNU6-1067P RNA, U6 small nuclear 1067, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 2013-05-01 2013-05-01 106481516 ENSG00000207483 NG_043781 HGNC:48030 +HGNC:48031 RNU6-1068P RNA, U6 small nuclear 1068, pseudogene pseudogene pseudogene Approved 12q23.2 12q23.2 2013-05-01 2013-05-01 106481933 ENSG00000222890 NG_043012 HGNC:48031 +HGNC:48032 RNU6-1069P RNA, U6 small nuclear 1069, pseudogene pseudogene pseudogene Approved 12p11.21 12p11.21 2013-05-01 2013-05-01 106480036 ENSG00000252421 NG_044194 HGNC:48032 +HGNC:48034 RNU6-1071P RNA, U6 small nuclear 1071, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 2013-05-01 2013-05-01 106481517 ENSG00000201789 NG_043790 HGNC:48034 +HGNC:48035 RNU6-1072P RNA, U6 small nuclear 1072, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2013-05-01 2013-05-01 106480037 ENSG00000207434 NG_044199 HGNC:48035 +HGNC:48036 RNU6-1073P RNA, U6 small nuclear 1073, pseudogene pseudogene pseudogene Approved 9p24.3 09p24.3 2013-05-01 2013-05-01 106481518 ENSG00000252991 NG_043797 HGNC:48036 +HGNC:48037 RNU6-1074P RNA, U6 small nuclear 1074, pseudogene pseudogene pseudogene Approved 4q31.1 04q31.1 2013-05-01 2013-05-01 106480635 ENSG00000206722 NG_044902 HGNC:48037 +HGNC:48038 RNU6-1075P RNA, U6 small nuclear 1075, pseudogene pseudogene pseudogene Approved 10p13 10p13 2013-05-01 2013-05-01 106480406 ENSG00000201260 NG_043087 HGNC:48038 +HGNC:48039 RNU6-1076P RNA, U6 small nuclear 1076, pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 2013-05-01 2013-05-01 106480038 ENSG00000222329 NG_044207 HGNC:48039 +HGNC:48040 RNU6-1077P RNA, U6 small nuclear 1077, pseudogene pseudogene pseudogene Approved 12q24.33 12q24.33 2013-05-01 2013-05-01 106480039 ENSG00000222438 NG_044215 HGNC:48040 +HGNC:48041 RNU6-1078P RNA, U6 small nuclear 1078, pseudogene pseudogene pseudogene Approved Xq13.1 Xq13.1 2013-05-01 2013-05-01 106481519 ENSG00000201392 NG_043805 HGNC:48041 +HGNC:48042 RNU6-1079P RNA, U6 small nuclear 1079, pseudogene pseudogene pseudogene Approved 5p13.3 05p13.3 2013-05-01 2013-05-01 106480040 ENSG00000199731 NG_045770 HGNC:48042 +HGNC:48043 RNU6-1080P RNA, U6 small nuclear 1080, pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 2013-05-01 2013-05-01 106481520 ENSG00000206709 NG_023242 HGNC:48043 +HGNC:48044 RNU6-1081P RNA, U6 small nuclear 1081, pseudogene pseudogene pseudogene Approved 2p25.1 02p25.1 2013-05-01 2013-05-01 106480636 ENSG00000207267 NG_045206 HGNC:48044 +HGNC:48045 RNU6-1082P RNA, U6 small nuclear 1082, pseudogene pseudogene pseudogene Approved 9q33.1 09q33.1 2013-05-01 2013-05-01 106480041 ENSG00000201444 NG_044231 HGNC:48045 +HGNC:48046 RNU6-1083P RNA, U6 small nuclear 1083, pseudogene pseudogene pseudogene Approved 12q14.1 12q14.1 2013-05-01 2013-05-01 106481521 ENSG00000206749 NG_045589 HGNC:48046 +HGNC:48047 RNU6-1084P RNA, U6 small nuclear 1084, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 2013-05-01 2013-05-01 106480042 ENSG00000199368 NG_044238 HGNC:48047 +HGNC:48048 RNU6-1085P RNA, U6 small nuclear 1085, pseudogene pseudogene pseudogene Approved 7p14.2 07p14.2 2013-05-01 2013-05-01 106480043 ENSG00000200446 NG_044247 HGNC:48048 +HGNC:48049 RNU6-1086P RNA, U6 small nuclear 1086, pseudogene pseudogene pseudogene Approved 8p21.1 08p21.1 2013-05-01 2013-05-01 106481934 ENSG00000222862 NG_043022 HGNC:48049 +HGNC:48050 RNU6-1087P RNA, U6 small nuclear 1087, pseudogene pseudogene pseudogene Approved Xp21.1 Xp21.1 2013-05-01 2013-05-01 106481522 ENSG00000252411 NG_043831 HGNC:48050 +HGNC:48051 RNU6-1088P RNA, U6 small nuclear 1088, pseudogene pseudogene pseudogene Approved 12q24.31 12q24.31 2013-05-01 2013-05-01 106480044 ENSG00000252659 NG_045149 HGNC:48051 +HGNC:48052 RNU6-1089P RNA, U6 small nuclear 1089, pseudogene pseudogene pseudogene Approved 1q44 01q44 2013-05-01 2013-05-01 106481523 ENSG00000252282 NG_045594 HGNC:48052 +HGNC:48053 RNU6-1090P RNA, U6 small nuclear 1090, pseudogene pseudogene pseudogene Approved 10q25.3 10q25.3 2013-05-01 2013-05-01 106480045 ENSG00000200935 NG_044263 HGNC:48053 +HGNC:48054 RNU6-1091P RNA, U6 small nuclear 1091, pseudogene pseudogene pseudogene Approved 7p12.1 07p12.1 2013-05-01 2013-05-01 106480637 ENSG00000200815 NG_045207 HGNC:48054 +HGNC:48055 RNU6-1092P RNA, U6 small nuclear 1092, pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 2013-05-01 2013-05-01 106480046 ENSG00000252764 NG_044273 HGNC:48055 +HGNC:48056 RNU6-1093P RNA, U6 small nuclear 1093, pseudogene pseudogene pseudogene Approved 12q13.12 12q13.12 2013-05-01 2013-05-01 106481524 ENSG00000212496 NG_045598 HGNC:48056 +HGNC:48057 RNU6-1094P RNA, U6 small nuclear 1094, pseudogene pseudogene pseudogene Approved 3q11.2 03q11.2 2013-05-01 2013-05-01 106480047 ENSG00000199286 NG_044283 HGNC:48057 +HGNC:48058 RNU6-1095P RNA, U6 small nuclear 1095, pseudogene pseudogene pseudogene Approved 10p14 10p14 2013-05-01 2013-05-01 106481525 ENSG00000251957 NG_043851 HGNC:48058 +HGNC:48059 RNU6-1096P RNA, U6 small nuclear 1096, pseudogene pseudogene pseudogene Approved 4q34.1 04q34.1 2013-05-01 2013-05-01 106480700 ENSG00000252898 NG_043407 HGNC:48059 +HGNC:48060 RNU6-1097P RNA, U6 small nuclear 1097, pseudogene pseudogene pseudogene Approved 7p13 07p13 2013-05-01 2013-05-01 106480048 ENSG00000200456 NG_044291 HGNC:48060 +HGNC:48061 RNU6-1098P RNA, U6 small nuclear 1098, pseudogene pseudogene pseudogene Approved 3q25.1 03q25.1 2013-05-01 2013-05-01 106481935 ENSG00000252581 NG_043029 HGNC:48061 +HGNC:48062 RNU6-1099P RNA, U6 small nuclear 1099, pseudogene pseudogene pseudogene Approved 1p36.13 01p36.13 2013-05-01 2013-05-01 106481526 ENSG00000200403 NG_045606 HGNC:48062 +HGNC:48063 RNU6-1100P RNA, U6 small nuclear 1100, pseudogene pseudogene pseudogene Approved 1p36.33 01p36.33 2013-05-01 2013-05-01 106480049 ENSG00000222623 NG_045795 HGNC:48063 +HGNC:48064 RNU6-1101P RNA, U6 small nuclear 1101, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-05-01 2013-05-01 106480050 ENSG00000252053 NG_044307 HGNC:48064 +HGNC:48065 RNU6-1102P RNA, U6 small nuclear 1102, pseudogene pseudogene pseudogene Approved 1p31.1 01p31.1 2013-05-01 2013-05-01 106481527 ENSG00000251958 NG_043860 HGNC:48065 +HGNC:48066 RNU6-1103P RNA, U6 small nuclear 1103, pseudogene pseudogene pseudogene Approved 7p15.3 07p15.3 2013-05-01 2013-05-01 106480051 ENSG00000206877 NG_045155 HGNC:48066 +HGNC:48067 RNU6-1104P RNA, U6 small nuclear 1104, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 2013-05-01 2013-05-01 106481528 ENSG00000207454 NG_045103 HGNC:48067 +HGNC:48068 RNU6-1105P RNA, U6 small nuclear 1105, pseudogene pseudogene pseudogene Approved 3q27.3 03q27.3 2013-05-01 2013-05-01 106480052 ENSG00000207505 NG_044325 HGNC:48068 +HGNC:48069 RNU6-1106P RNA, U6 small nuclear 1106, pseudogene pseudogene pseudogene Approved 6q16.3 06q16.3 2013-05-01 2013-05-01 106480053 ENSG00000212147 NG_044334 HGNC:48069 +HGNC:48070 RNU6-1107P RNA, U6 small nuclear 1107, pseudogene pseudogene pseudogene Approved 11q23.2 11q23.2 2013-05-01 2013-05-01 106481529 ENSG00000201687 NG_043876 HGNC:48070 +HGNC:48071 RNU6-1108P RNA, U6 small nuclear 1108, pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 2013-05-01 2013-05-01 107105259 ENSG00000252117 NG_046577 HGNC:48071 +HGNC:48072 RNU6-1109P RNA, U6 small nuclear 1109, pseudogene pseudogene pseudogene Approved 3q28 03q28 2013-05-01 2013-05-01 106480054 ENSG00000212489 NG_044343 HGNC:48072 +HGNC:48073 RNU6-1110P RNA, U6 small nuclear 1110, pseudogene pseudogene pseudogene Approved 16q21 16q21 2013-05-01 2013-05-01 106480638 ENSG00000252271 NG_044923 HGNC:48073 +HGNC:48074 RNU6-1111P RNA, U6 small nuclear 1111, pseudogene pseudogene pseudogene Approved 15q26.1 15q26.1 2013-05-01 2013-05-01 106481530 ENSG00000212420 NG_045619 HGNC:48074 +HGNC:48075 RNU6-1112P RNA, U6 small nuclear 1112, pseudogene pseudogene pseudogene Approved 4p14 04p14 2013-05-01 2013-05-01 106480055 ENSG00000200455 NG_044353 HGNC:48075 +HGNC:48076 RNU6-1113P RNA, U6 small nuclear 1113, pseudogene pseudogene pseudogene Approved 6p21.1 06p21.1 2013-05-01 2013-05-01 106480056 ENSG00000207076 NG_044363 HGNC:48076 +HGNC:48077 RNU6-1114P RNA, U6 small nuclear 1114, pseudogene pseudogene pseudogene Approved 6p22.3 06p22.3 2013-05-01 2013-05-01 106481531 ENSG00000251831 NG_043892 HGNC:48077 +HGNC:48078 RNU6-1115P RNA, U6 small nuclear 1115, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106480639 ENSG00000199360 NG_044933 HGNC:48078 +HGNC:48079 RNU6-1116P RNA, U6 small nuclear 1116, pseudogene pseudogene pseudogene Approved 2p22.2 02p22.2 2013-05-01 2013-05-01 106480057 ENSG00000253078 NG_045158 HGNC:48079 +HGNC:48080 RNU6-1117P RNA, U6 small nuclear 1117, pseudogene pseudogene pseudogene Approved 2p22.3 02p22.3 2013-05-01 2013-05-01 106481532 ENSG00000207255 NG_043901 HGNC:48080 +HGNC:48081 RNU6-1118P RNA, U6 small nuclear 1118, pseudogene pseudogene pseudogene Approved 10p11.1 10p11.1 2013-05-01 2013-05-01 106480058 ENSG00000222314 NG_045821 HGNC:48081 +HGNC:48082 RNU6-1119P RNA, U6 small nuclear 1119, pseudogene pseudogene pseudogene Approved 5q21.1 05q21.1 2013-05-01 2013-05-01 106481533 ENSG00000207077 NG_043907 HGNC:48082 +HGNC:48083 RNU6-1120P RNA, U6 small nuclear 1120, pseudogene pseudogene pseudogene Approved 3q26.32 03q26.32 2013-05-01 2013-05-01 106480059 ENSG00000199858 NG_044385 HGNC:48083 +HGNC:48084 RNU6-1121P RNA, U6 small nuclear 1121, pseudogene pseudogene pseudogene Approved 10q25.3 10q25.3 2013-05-01 2013-05-01 106481780 ENSG00000252611 NG_043846 HGNC:48084 +HGNC:48085 RNU6-1122P RNA, U6 small nuclear 1122, pseudogene pseudogene pseudogene Approved 2q32.1 02q32.1 2013-05-01 2013-05-01 106481936 ENSG00000207178 NG_045012 HGNC:48085 +HGNC:48086 RNU6-1123P RNA, U6 small nuclear 1123, pseudogene pseudogene pseudogene Approved 11q23.3 11q23.3 2013-05-01 2013-05-01 106480060 ENSG00000199217 NG_013083 HGNC:48086 +HGNC:48087 RNU6-1124P RNA, U6 small nuclear 1124, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 2013-05-01 2013-05-01 106481534 ENSG00000206896 NG_043914 HGNC:48087 +HGNC:48088 RNU6-1125P RNA, U6 small nuclear 1125, pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 2013-05-01 2013-05-01 106480061 ENSG00000200471 NG_044401 HGNC:48088 +HGNC:48089 RNU6-1126P RNA, U6 small nuclear 1126, pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 2013-05-01 2013-05-01 106481535 ENSG00000206729 NG_043917 HGNC:48089 +HGNC:48090 RNU6-1127P RNA, U6 small nuclear 1127, pseudogene pseudogene pseudogene Approved 3q13.33 03q13.33 2013-05-01 2013-05-01 106480640 ENSG00000207310 NG_042905 HGNC:48090 +HGNC:48091 RNU6-1128P RNA, U6 small nuclear 1128, pseudogene pseudogene pseudogene Approved 22q12.2 22q12.2 2013-05-01 2013-05-01 106480062 ENSG00000199695 NG_029895 HGNC:48091 +HGNC:48092 RNU6-1129P RNA, U6 small nuclear 1129, pseudogene pseudogene pseudogene Approved 3p12.1 03p12.1 2013-05-01 2013-05-01 106481536 ENSG00000251773 NG_043923 HGNC:48092 +HGNC:48093 RNU6-1130P RNA, U6 small nuclear 1130, pseudogene pseudogene pseudogene Approved Xq26.1 Xq26.1 2013-05-01 2013-05-01 106480063 ENSG00000202304 NG_044419 HGNC:48093 +HGNC:48094 RNU6-1131P RNA, U6 small nuclear 1131, pseudogene pseudogene pseudogene Approved 18q21.1 18q21.1 2013-05-01 2013-05-01 106480064 ENSG00000201825 NG_045839 HGNC:48094 +HGNC:48095 RNU6-1132P RNA, U6 small nuclear 1132, pseudogene pseudogene pseudogene Approved 2q21.2 02q21.2 2013-05-01 2013-05-01 106481937 ENSG00000239108 NG_045292 HGNC:48095 +HGNC:48096 RNU6-1133P RNA, U6 small nuclear 1133, pseudogene pseudogene pseudogene Approved 6p21.33 06p21.33 RNU6-186P RNA, U6 small nuclear 186, pseudogene 2013-05-01 2016-02-10 106481537 ENSG00000222895 NG_043929 HGNC:48096 +HGNC:48097 RNU6-1134P RNA, U6 small nuclear 1134, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-05-01 2013-05-01 106480065 ENSG00000202026 NG_044436 HGNC:48097 +HGNC:48098 RNU6-1135P RNA, U6 small nuclear 1135, pseudogene pseudogene pseudogene Approved 11q14.2 11q14.2 2013-05-01 2013-05-01 106481538 ENSG00000223015 NG_043937 HGNC:48098 +HGNC:48099 RNU6-1136P RNA, U6 small nuclear 1136, pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 2013-05-01 2013-05-01 106480066 ENSG00000252643 NG_045165 HGNC:48099 +HGNC:48100 RNU6-1137P RNA, U6 small nuclear 1137, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 2013-05-01 2013-05-01 106480067 ENSG00000252882 NG_044449 HGNC:48100 +HGNC:48101 RNU6-1138P RNA, U6 small nuclear 1138, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2013-05-01 2013-05-01 106480641 ENSG00000202229 NG_045238 HGNC:48101 +HGNC:48102 RNU6-1139P RNA, U6 small nuclear 1139, pseudogene pseudogene pseudogene Approved 1q43 01q43 2013-05-01 2013-05-01 106481539 ENSG00000223119 NG_043945 HGNC:48102 +HGNC:48103 RNU6-1140P RNA, U6 small nuclear 1140, pseudogene pseudogene pseudogene Approved 2q37.3 02q37.3 2013-05-01 2013-05-01 106480068 ENSG00000222449 NG_045166 HGNC:48103 +HGNC:48104 RNU6-1141P RNA, U6 small nuclear 1141, pseudogene pseudogene pseudogene Approved 10p12.31 10p12.31 2013-05-01 2013-05-01 106481540 ENSG00000201390 NG_027818 HGNC:48104 +HGNC:48106 RNU6-1143P RNA, U6 small nuclear 1143, pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 2013-05-01 2013-05-01 106480069 ENSG00000251934 NG_045859 HGNC:48106 +HGNC:48107 RNU6-1144P RNA, U6 small nuclear 1144, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106481938 ENSG00000206974 NG_043059 HGNC:48107 +HGNC:48108 RNU6-1145P RNA, U6 small nuclear 1145, pseudogene pseudogene pseudogene Approved 2p15 02p15 2013-05-01 2013-05-01 106481541 ENSG00000206973 NG_043959 HGNC:48108 +HGNC:48109 RNU6-1146P RNA, U6 small nuclear 1146, pseudogene pseudogene pseudogene Approved 20q13.31 20q13.31 2013-05-01 2013-05-01 106480070 ENSG00000252091 NG_044471 HGNC:48109 +HGNC:48110 RNU6-1147P RNA, U6 small nuclear 1147, pseudogene pseudogene pseudogene Approved 2q14.3 02q14.3 2013-05-01 2013-05-01 106480071 ENSG00000200250 NG_045168 HGNC:48110 +HGNC:48111 RNU6-1148P RNA, U6 small nuclear 1148, pseudogene pseudogene pseudogene Approved 5q31.2 05q31.2 2013-05-01 2013-05-01 106480642 ENSG00000222924 NG_042916 HGNC:48111 +HGNC:48112 RNU6-1149P RNA, U6 small nuclear 1149, pseudogene pseudogene pseudogene Approved 21q22.3 21q22.3 2013-05-01 2013-05-01 106481542 ENSG00000252619 NG_029750 HGNC:48112 +HGNC:48113 RNU6-1150P RNA, U6 small nuclear 1150, pseudogene pseudogene pseudogene Approved 21q22.3 21q22.3 2013-05-01 2013-05-01 106480072 ENSG00000252606 NG_045172 HGNC:48113 +HGNC:48114 RNU6-1151P RNA, U6 small nuclear 1151, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 2013-05-01 2013-05-01 106481543 ENSG00000207415 NG_043973 HGNC:48114 +HGNC:48115 RNU6-1152P RNA, U6 small nuclear 1152, pseudogene pseudogene pseudogene Approved 17q21.32 17q21.32 2013-05-01 2013-05-01 106480073 ENSG00000207306 NG_045871 HGNC:48115 +HGNC:48116 RNU6-1153P RNA, U6 small nuclear 1153, pseudogene pseudogene pseudogene Approved 16q12.2 16q12.2 2013-05-01 2013-05-01 106480643 ENSG00000252569 NG_042925 HGNC:48116 +HGNC:48117 RNU6-1154P RNA, U6 small nuclear 1154, pseudogene pseudogene pseudogene Approved 7q33 07q33 2013-05-01 2013-05-01 106480074 ENSG00000212303 NG_044500 HGNC:48117 +HGNC:48118 RNU6-1155P RNA, U6 small nuclear 1155, pseudogene pseudogene pseudogene Approved 16q21 16q21 2013-05-01 2013-05-01 106481544 ENSG00000200424 NG_043980 HGNC:48118 +HGNC:48119 RNU6-1156P RNA, U6 small nuclear 1156, pseudogene pseudogene pseudogene Approved 11q24.2 11q24.2 2013-05-01 2013-05-01 106480075 ENSG00000222297 NG_045875 HGNC:48119 +HGNC:48120 RNU6-1157P RNA, U6 small nuclear 1157, pseudogene pseudogene pseudogene Approved 11q23.3 11q23.3 2013-05-01 2013-05-01 106481545 ENSG00000207185 NG_051953 HGNC:48120 +HGNC:48121 RNU6-1158P RNA, U6 small nuclear 1158, pseudogene pseudogene pseudogene Approved 17q22 17q22 2013-05-01 2013-05-01 106480076 ENSG00000212469 NG_044519 HGNC:48121 +HGNC:48122 RNU6-1159P RNA, U6 small nuclear 1159, pseudogene pseudogene pseudogene Approved 20p12.1 20p12.1 2013-05-01 2013-05-01 106481939 ENSG00000199803 NG_043066 HGNC:48122 +HGNC:48123 RNU6-1160P RNA, U6 small nuclear 1160, pseudogene pseudogene pseudogene Approved 9q22.32 09q22.32 2013-05-01 2013-05-01 106481546 ENSG00000207276 NG_008157 HGNC:48123 +HGNC:48124 RNU6-1161P RNA, U6 small nuclear 1161, pseudogene pseudogene pseudogene Approved 22q13.31 22q13.31 2013-05-01 2013-05-01 106480077 ENSG00000251985 NG_044529 HGNC:48124 +HGNC:48125 RNU6-1162P RNA, U6 small nuclear 1162, pseudogene pseudogene pseudogene Approved 14q23.2 14q23.2 2013-05-01 2013-05-01 106480078 ENSG00000207172 NG_045883 HGNC:48125 +HGNC:48126 RNU6-1163P RNA, U6 small nuclear 1163, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106481547 ENSG00000201386 NG_044000 HGNC:48126 +HGNC:48127 RNU6-1164P RNA, U6 small nuclear 1164, pseudogene pseudogene pseudogene Approved 5q31.1 05q31.1 2013-05-01 2013-05-01 106480644 ENSG00000201298 NG_042933 HGNC:48127 +HGNC:48128 RNU6-1165P RNA, U6 small nuclear 1165, pseudogene pseudogene pseudogene Approved 10q24.32 10q24.32 2013-05-01 2013-05-01 106480079 ENSG00000222051 NG_044541 HGNC:48128 +HGNC:48130 RNU6-1167P RNA, U6 small nuclear 1167, pseudogene pseudogene pseudogene Approved 10p11.21 10p11.21 2013-05-01 2013-05-01 106480407 ENSG00000200097 NG_043094 HGNC:48130 +HGNC:48131 RNU6-1168P RNA, U6 small nuclear 1168, pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 2013-05-01 2013-05-01 106481548 ENSG00000212133 NG_044009 HGNC:48131 +HGNC:48132 RNU6-1169P RNA, U6 small nuclear 1169, pseudogene pseudogene pseudogene Approved 15q15.1 15q15.1 2013-05-01 2013-05-01 106480080 ENSG00000200407 NG_044549 HGNC:48132 +HGNC:48133 RNU6-1170P RNA, U6 small nuclear 1170, pseudogene pseudogene pseudogene Approved 10q11.21 10q11.21 2013-05-01 2013-05-01 106480081 ENSG00000251783 NG_045894 HGNC:48133 +HGNC:48134 RNU6-1171P RNA, U6 small nuclear 1171, pseudogene pseudogene pseudogene Approved 1p36.11 01p36.11 2013-05-01 2013-05-01 106481940 ENSG00000252515 NG_043072 HGNC:48134 +HGNC:48135 RNU6-1172P RNA, U6 small nuclear 1172, pseudogene pseudogene pseudogene Approved 8q22.1 08q22.1 2013-05-01 2013-05-01 106481549 ENSG00000202095 NG_044016 HGNC:48135 +HGNC:48137 RNU6-1174P RNA, U6 small nuclear 1174, pseudogene pseudogene pseudogene Approved 3q22.2 03q22.2 2013-05-01 2013-05-01 106481550 ENSG00000253087 NG_044026 HGNC:48137 +HGNC:48138 RNU6-1175P RNA, U6 small nuclear 1175, pseudogene pseudogene pseudogene Approved 11q13.3 11q13.3 2013-05-01 2013-05-01 106480082 ENSG00000202070 NG_044564 HGNC:48138 +HGNC:48139 RNU6-1176P RNA, U6 small nuclear 1176, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-05-01 2013-05-01 106481551 ENSG00000212257 NG_044034 HGNC:48139 +HGNC:48140 RNU6-1177P RNA, U6 small nuclear 1177, pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-05-01 2013-05-01 106480645 ENSG00000212360 NG_045255 HGNC:48140 +HGNC:48141 RNU6-1178P RNA, U6 small nuclear 1178, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 2013-05-01 2013-05-01 106480083 ENSG00000252483 NG_045899 HGNC:48141 +HGNC:48142 RNU6-1179P RNA, U6 small nuclear 1179, pseudogene pseudogene pseudogene Approved 19p12 19p12 2013-05-01 2013-05-01 106480084 ENSG00000207397 NG_044582 HGNC:48142 +HGNC:48143 RNU6-1180P RNA, U6 small nuclear 1180, pseudogene pseudogene pseudogene Approved 2q13 02q13 2013-05-01 2013-05-01 106481552 ENSG00000201805 NG_045124 HGNC:48143 +HGNC:48144 RNU6-1181P RNA, U6 small nuclear 1181, pseudogene pseudogene pseudogene Approved 3p14.3 03p14.3 2013-05-01 2013-05-01 106480085 ENSG00000206918 NG_044592 HGNC:48144 +HGNC:48146 RNU6-1183P RNA, U6 small nuclear 1183, pseudogene pseudogene pseudogene Approved 12q23.2 12q23.2 2013-05-01 2013-05-01 106481941 ENSG00000252863 NG_043080 HGNC:48146 +HGNC:48147 RNU6-1184P RNA, U6 small nuclear 1184, pseudogene pseudogene pseudogene Approved 7q35 07q35 2013-05-01 2013-05-01 106481553 ENSG00000207318 NG_045125 HGNC:48147 +HGNC:48149 RNU6-1186P RNA, U6 small nuclear 1186, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 2013-05-01 2013-05-01 106480086 ENSG00000222361 NG_044599 HGNC:48149 +HGNC:48150 RNU6-1187P RNA, U6 small nuclear 1187, pseudogene pseudogene pseudogene Approved 4q21.1 04q21.1 2013-05-01 2013-05-01 106481554 ENSG00000201641 NG_044059 HGNC:48150 +HGNC:48151 RNU6-1188P RNA, U6 small nuclear 1188, pseudogene pseudogene pseudogene Approved 12q24.21 12q24.21 2013-05-01 2013-05-01 106480408 ENSG00000200665 NG_043103 HGNC:48151 +HGNC:48152 RNU6-1189P RNA, U6 small nuclear 1189, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 2013-05-01 2013-05-01 106480646 ENSG00000206685 NG_045259 HGNC:48152 +HGNC:48153 RNU6-1190P RNA, U6 small nuclear 1190, pseudogene pseudogene pseudogene Approved 5p13.2 05p13.2 2013-05-01 2013-05-01 106480087 ENSG00000222743 NG_044610 HGNC:48153 +HGNC:48154 RNU6-1191P RNA, U6 small nuclear 1191, pseudogene pseudogene pseudogene Approved 16q23.2 16q23.2 2013-05-01 2013-05-01 106481555 ENSG00000252608 NG_033236 HGNC:48154 +HGNC:48155 RNU6-1192P RNA, U6 small nuclear 1192, pseudogene pseudogene pseudogene Approved 17q12 17q12 2013-05-01 2015-02-04 106480088 ENSG00000277029 NG_044618 HGNC:48155 +HGNC:48156 RNU6-1193P RNA, U6 small nuclear 1193, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 2013-05-01 2013-05-01 106481556 ENSG00000238551 NG_045700 HGNC:48156 +HGNC:48157 RNU6-1194P RNA, U6 small nuclear 1194, pseudogene pseudogene pseudogene Approved 3p26.3 03p26.3 2013-05-01 2013-05-01 106481557 ENSG00000252017 NG_044083 HGNC:48157 +HGNC:48158 RNU6-1195P RNA, U6 small nuclear 1195, pseudogene pseudogene pseudogene Approved 4p14 04p14 2013-05-01 2013-05-01 106480647 ENSG00000207198 NG_013337 HGNC:48158 +HGNC:48159 RNU6-1196P RNA, U6 small nuclear 1196, pseudogene pseudogene pseudogene Approved 4q31.3 04q31.3 2013-05-01 2013-05-01 106480089 ENSG00000252030 NG_041788 HGNC:48159 +HGNC:48160 RNU6-1197P RNA, U6 small nuclear 1197, pseudogene pseudogene pseudogene Approved 8q21.11 08q21.11 2013-05-01 2013-05-01 106481558 ENSG00000212485 NG_044094 HGNC:48160 +HGNC:48161 RNU6-1198P RNA, U6 small nuclear 1198, pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 2013-05-01 2013-05-01 106480090 ENSG00000252713 NG_027679 HGNC:48161 +HGNC:48162 RNU6-1199P RNA, U6 small nuclear 1199, pseudogene pseudogene pseudogene Approved 1p36.33 01p36.33 2013-05-01 2013-05-01 106480091 ENSG00000223181 NG_045923 HGNC:48162 +HGNC:48163 RNU6-1200P RNA, U6 small nuclear 1200, pseudogene pseudogene pseudogene Approved 3q13.31 03q13.31 2013-05-01 2013-05-01 106481559 ENSG00000206889 NG_044104 HGNC:48163 +HGNC:48164 RNU6-1201P RNA, U6 small nuclear 1201, pseudogene pseudogene pseudogene Approved 17q21.32 17q21.32 2013-05-01 2013-05-01 106481942 ENSG00000206954 NG_045311 HGNC:48164 +HGNC:48166 RNU6-1203P RNA, U6 small nuclear 1203, pseudogene pseudogene pseudogene Approved 12q13.11 12q13.11 2013-05-01 2013-05-01 106480092 ENSG00000222635 NG_044647 HGNC:48166 +HGNC:48167 RNU6-1204P RNA, U6 small nuclear 1204, pseudogene pseudogene pseudogene Approved 14q22.3 14q22.3 2013-05-01 2013-05-01 106481560 ENSG00000200818 NG_045710 HGNC:48167 +HGNC:48168 RNU6-1205P RNA, U6 small nuclear 1205, pseudogene pseudogene pseudogene Approved 1q44 01q44 2013-05-01 2013-05-01 106480093 ENSG00000200495 NG_044653 HGNC:48168 +HGNC:48169 RNU6-1206P RNA, U6 small nuclear 1206, pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-05-01 2013-05-01 106481561 ENSG00000252148 NG_045715 HGNC:48169 +HGNC:48170 RNU6-1207P RNA, U6 small nuclear 1207, pseudogene pseudogene pseudogene Approved 10q11.21 10q11.21 2013-05-01 2013-05-01 106480648 ENSG00000207071 NG_042966 HGNC:48170 +HGNC:48171 RNU6-1208P RNA, U6 small nuclear 1208, pseudogene pseudogene pseudogene Approved 1p36.11 01p36.11 2013-05-01 2013-05-01 106480094 ENSG00000238482 NG_044662 HGNC:48171 +HGNC:48172 RNU6-1209P RNA, U6 small nuclear 1209, pseudogene pseudogene pseudogene Approved 8q22.1 08q22.1 2013-05-01 2013-05-01 106480095 ENSG00000200525 NG_045940 HGNC:48172 +HGNC:48173 RNU6-1210P RNA, U6 small nuclear 1210, pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 2013-05-01 2013-05-01 106481562 ENSG00000200645 NG_045720 HGNC:48173 +HGNC:48174 RNU6-1211P RNA, U6 small nuclear 1211, pseudogene pseudogene pseudogene Approved 1q42.2 01q42.2 2013-05-01 2013-05-01 106480096 ENSG00000238382 NG_044673 HGNC:48174 +HGNC:48175 RNU6-1212P RNA, U6 small nuclear 1212, pseudogene pseudogene pseudogene Approved 10p12.31 10p12.31 2013-05-01 2013-05-01 106481943 ENSG00000252832 NG_043099 HGNC:48175 +HGNC:48176 RNU6-1213P RNA, U6 small nuclear 1213, pseudogene pseudogene pseudogene Approved 8q21.13 08q21.13 2013-05-01 2013-05-01 106481563 ENSG00000252884 NG_044134 HGNC:48176 +HGNC:48177 RNU6-1214P RNA, U6 small nuclear 1214, pseudogene pseudogene pseudogene Approved 4q31.1 04q31.1 2013-05-01 2013-05-01 106481781 ENSG00000200520 NG_045603 HGNC:48177 +HGNC:48178 RNU6-1215P RNA, U6 small nuclear 1215, pseudogene pseudogene pseudogene Approved 2p24.2 02p24.2 2013-05-01 2013-05-01 106480097 ENSG00000207170 NG_045949 HGNC:48178 +HGNC:48179 RNU6-1216P RNA, U6 small nuclear 1216, pseudogene pseudogene pseudogene Approved 2p13.3 02p13.3 2013-05-01 2013-05-01 106480098 ENSG00000199460 NG_045953 HGNC:48179 +HGNC:48180 RNU6-1217P RNA, U6 small nuclear 1217, pseudogene pseudogene pseudogene Approved 4q26 04q26 2013-05-01 2013-05-01 106481564 ENSG00000223208 NG_045135 HGNC:48180 +HGNC:48181 RNU6-1218P RNA, U6 small nuclear 1218, pseudogene pseudogene pseudogene Approved 8p12 08p12 2013-05-01 2013-05-01 106480099 ENSG00000239175 NG_044701 HGNC:48181 +HGNC:48182 RNU6-1219P RNA, U6 small nuclear 1219, pseudogene pseudogene pseudogene Approved 22q12.1 22q12.1 2013-05-01 2013-05-01 106480649 ENSG00000251952 NG_042976 HGNC:48182 +HGNC:48183 RNU6-1220P RNA, U6 small nuclear 1220, pseudogene pseudogene pseudogene Approved 8q21.12 08q21.12 2013-05-01 2013-05-01 106481565 ENSG00000252935 NG_044148 HGNC:48183 +HGNC:48185 RNU6-1222P RNA, U6 small nuclear 1222, pseudogene pseudogene pseudogene Approved 6q24.3 06q24.3 2013-05-01 2013-05-01 106480100 ENSG00000207345 NG_051927 HGNC:48185 +HGNC:48186 RNU6-1223P RNA, U6 small nuclear 1223, pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 2013-05-01 2013-05-01 106481566 ENSG00000252933 NG_029953 HGNC:48186 +HGNC:48187 RNU6-1224P RNA, U6 small nuclear 1224, pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 2013-05-01 2013-05-01 106480101 ENSG00000252593 NG_044718 HGNC:48187 +HGNC:48188 RNU6-1225P RNA, U6 small nuclear 1225, pseudogene pseudogene pseudogene Approved Xq12 Xq12 2013-05-01 2013-05-01 106480650 ENSG00000252145 NG_008960 HGNC:48188 +HGNC:48189 RNU6-1226P RNA, U6 small nuclear 1226, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106480102 ENSG00000207044 NG_008209 HGNC:48189 +HGNC:48190 RNU6-1227P RNA, U6 small nuclear 1227, pseudogene pseudogene pseudogene Approved 3p22.2 03p22.2 2013-05-01 2013-05-01 106481567 ENSG00000206708 NG_033859 HGNC:48190 +HGNC:48191 RNU6-1228P RNA, U6 small nuclear 1228, pseudogene pseudogene pseudogene Approved 9q21.13 09q21.13 2013-05-01 2013-05-01 106480103 ENSG00000212316 NG_044737 HGNC:48191 +HGNC:48192 RNU6-1229P RNA, U6 small nuclear 1229, pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 2013-05-01 2013-05-01 106481568 ENSG00000201165 NG_044169 HGNC:48192 +HGNC:48193 RNU6-1230P RNA, U6 small nuclear 1230, pseudogene pseudogene pseudogene Approved 4q31.23 04q31.23 2013-05-01 2013-05-01 106481944 ENSG00000207121 NG_043109 HGNC:48193 +HGNC:48194 RNU6-1231P RNA, U6 small nuclear 1231, pseudogene pseudogene pseudogene Approved 10q24.32 10q24.32 2013-05-01 2013-05-01 106480104 ENSG00000252994 NG_045967 HGNC:48194 +HGNC:48195 RNU6-1232P RNA, U6 small nuclear 1232, pseudogene pseudogene pseudogene Approved 5q13.1 05q13.1 2013-05-01 2013-05-01 106480105 ENSG00000252108 NG_044754 HGNC:48195 +HGNC:48196 RNU6-1233P RNA, U6 small nuclear 1233, pseudogene pseudogene pseudogene Approved 3q26.31 03q26.31 2013-05-01 2013-05-01 106481569 ENSG00000199792 NG_044178 HGNC:48196 +HGNC:48197 RNU6-1234P RNA, U6 small nuclear 1234, pseudogene pseudogene pseudogene Approved 14q12 14q12 2013-05-01 2013-05-01 106480106 ENSG00000252686 NG_052879 HGNC:48197 +HGNC:48198 RNU6-1235P RNA, U6 small nuclear 1235, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 2013-05-01 2013-05-01 106480701 ENSG00000207289 NG_043417 HGNC:48198 +HGNC:48199 RNU6-1236P RNA, U6 small nuclear 1236, pseudogene pseudogene pseudogene Approved 3q13.13 03q13.13 2013-05-01 2013-05-01 106481570 ENSG00000252889 NG_044186 HGNC:48199 +HGNC:48200 RNU6-1237P RNA, U6 small nuclear 1237, pseudogene pseudogene pseudogene Approved 1p34.2 01p34.2 2013-05-01 2013-05-01 106480651 ENSG00000207508 NG_045274 HGNC:48200 +HGNC:48201 RNU6-1238P RNA, U6 small nuclear 1238, pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 2013-05-01 2013-05-01 106480107 ENSG00000253024 NG_044770 HGNC:48201 +HGNC:48202 RNU6-1239P RNA, U6 small nuclear 1239, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2013-05-01 2013-05-01 106481571 ENSG00000212612 NG_045753 HGNC:48202 +HGNC:48203 RNU6-1240P RNA, U6 small nuclear 1240, pseudogene pseudogene pseudogene Approved 1q31.1 01q31.1 2013-05-01 2013-05-01 106866914 ENSG00000202025 NG_046325 HGNC:48203 +HGNC:48204 RNU6-1241P RNA, U6 small nuclear 1241, pseudogene pseudogene pseudogene Approved 16p12.1 16p12.1 2013-05-01 2013-05-01 106481572 ENSG00000207266 NG_045756 HGNC:48204 +HGNC:48205 RNU6-1242P RNA, U6 small nuclear 1242, pseudogene pseudogene pseudogene Approved 18q12.3 18q12.3 2013-05-01 2013-05-01 106480108 ENSG00000212354 NG_045977 HGNC:48205 +HGNC:48206 RNU6-1243P RNA, U6 small nuclear 1243, pseudogene pseudogene pseudogene Approved 11q12.3 11q12.3 2013-05-01 2013-05-01 106481573 ENSG00000200898 NG_045762 HGNC:48206 +HGNC:48207 RNU6-1244P RNA, U6 small nuclear 1244, pseudogene pseudogene pseudogene Approved 10p11.22 10p11.22 2013-05-01 2013-05-01 106481945 ENSG00000200484 NG_043118 HGNC:48207 +HGNC:48208 RNU6-1245P RNA, U6 small nuclear 1245, pseudogene pseudogene pseudogene Approved 1p35.3 01p35.3 2013-05-01 2013-05-01 106480109 ENSG00000223062 NG_044787 HGNC:48208 +HGNC:48209 RNU6-1246P RNA, U6 small nuclear 1246, pseudogene pseudogene pseudogene Approved 1p31.1 01p31.1 2013-05-01 2013-05-01 106480110 ENSG00000212366 NG_044796 HGNC:48209 +HGNC:48210 RNU6-1247P RNA, U6 small nuclear 1247, pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 2013-05-01 2013-05-01 106481574 ENSG00000252431 NG_029875 HGNC:48210 +HGNC:48211 RNU6-1248P RNA, U6 small nuclear 1248, pseudogene pseudogene pseudogene Approved 1q41 01q41 2013-05-01 2013-05-01 106480111 ENSG00000212398 NG_044803 HGNC:48211 +HGNC:48212 RNU6-1249P RNA, U6 small nuclear 1249, pseudogene pseudogene pseudogene Approved 17q22 17q22 2013-05-01 2013-05-01 106480652 ENSG00000200107 NG_043000 HGNC:48212 +HGNC:48213 RNU6-1250P RNA, U6 small nuclear 1250, pseudogene pseudogene pseudogene Approved 10q21.3 10q21.3 2013-05-01 2013-05-01 106481575 ENSG00000212520 NG_044219 HGNC:48213 +HGNC:48214 RNU6-1251P RNA, U6 small nuclear 1251, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 2013-05-01 2013-05-01 106480112 ENSG00000201372 NG_044812 HGNC:48214 +HGNC:48215 RNU6-1252P RNA, U6 small nuclear 1252, pseudogene pseudogene pseudogene Approved 4q12 04q12 2013-05-01 2013-05-01 106480113 ENSG00000199924 NG_044822 HGNC:48215 +HGNC:48217 RNU6-1254P RNA, U6 small nuclear 1254, pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 2013-05-01 2013-05-01 106481576 ENSG00000212568 NG_044227 HGNC:48217 +HGNC:48218 RNU6-1255P RNA, U6 small nuclear 1255, pseudogene pseudogene pseudogene Approved 8q24.21 08q24.21 2013-05-01 2013-05-01 106481946 ENSG00000200304 NG_045325 HGNC:48218 +HGNC:48219 RNU6-1256P RNA, U6 small nuclear 1256, pseudogene pseudogene pseudogene Approved 3q12.3 03q12.3 2013-05-01 2013-05-01 106480114 ENSG00000252348 NG_044829 HGNC:48219 +HGNC:48220 RNU6-1257P RNA, U6 small nuclear 1257, pseudogene pseudogene pseudogene Approved 20p11.21 20p11.21 2013-05-01 2013-05-01 106481577 ENSG00000207355 NG_045776 HGNC:48220 +HGNC:48221 RNU6-1258P RNA, U6 small nuclear 1258, pseudogene pseudogene pseudogene Approved 14q32.12 14q32.12 2013-05-01 2013-05-01 106480115 ENSG00000252720 NG_044837 HGNC:48221 +HGNC:48223 RNU6-1260P RNA, U6 small nuclear 1260, pseudogene pseudogene pseudogene Approved 9p22.3 09p22.3 2013-05-01 2013-05-01 106481578 ENSG00000199814 NG_017005 HGNC:48223 +HGNC:48224 RNU6-1261P RNA, U6 small nuclear 1261, pseudogene pseudogene pseudogene Approved 14q13.1 14q13.1 2013-05-01 2013-05-01 106480116 ENSG00000253003 NG_044846 HGNC:48224 +HGNC:48225 RNU6-1262P RNA, U6 small nuclear 1262, pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 2013-05-01 2013-05-01 106480409 ENSG00000252026 NG_043114 HGNC:48225 +HGNC:48226 RNU6-1263P RNA, U6 small nuclear 1263, pseudogene pseudogene pseudogene Approved 3q12.1 03q12.1 2013-05-01 2013-05-01 106480653 ENSG00000207331 NG_043010 HGNC:48226 +HGNC:48227 RNU6-1264P RNA, U6 small nuclear 1264, pseudogene pseudogene pseudogene Approved 17p13.2 17p13.2 2013-05-01 2013-05-01 106480117 ENSG00000206618 NG_044854 HGNC:48227 +HGNC:48228 RNU6-1265P RNA, U6 small nuclear 1265, pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2013-05-01 2013-05-01 106481579 ENSG00000252151 NG_044252 HGNC:48228 +HGNC:48229 RNU6-1266P RNA, U6 small nuclear 1266, pseudogene pseudogene pseudogene Approved 10q22.3 10q22.3 2013-05-01 2013-05-01 106480118 ENSG00000199664 NG_044865 HGNC:48229 +HGNC:48230 RNU6-1267P RNA, U6 small nuclear 1267, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-05-01 2013-05-01 106481580 ENSG00000222679 NG_045784 HGNC:48230 +HGNC:48231 RNU6-1268P RNA, U6 small nuclear 1268, pseudogene pseudogene pseudogene Approved 14q11.2 14q11.2 2013-05-01 2013-05-01 106480654 ENSG00000212516 NG_045285 HGNC:48231 +HGNC:48232 RNU6-1269P RNA, U6 small nuclear 1269, pseudogene pseudogene pseudogene Approved 9p12 09p12 2013-05-01 2013-05-01 106480119 ENSG00000212441 NG_046018 HGNC:48232 +HGNC:48233 RNU6-1270P RNA, U6 small nuclear 1270, pseudogene pseudogene pseudogene Approved 3p13 03p13 2013-05-01 2013-05-01 106481581 ENSG00000252937 NG_044269 HGNC:48233 +HGNC:48234 RNU6-1271P RNA, U6 small nuclear 1271, pseudogene pseudogene pseudogene Approved 12q21.2 12q21.2 2013-05-01 2013-05-01 106480120 ENSG00000252858 NG_044877 HGNC:48234 +HGNC:48235 RNU6-1272P RNA, U6 small nuclear 1272, pseudogene pseudogene pseudogene Approved 7q34 07q34 2013-05-01 2013-05-01 106480121 ENSG00000199646 NG_032965 HGNC:48235 +HGNC:48236 RNU6-1273P RNA, U6 small nuclear 1273, pseudogene pseudogene pseudogene Approved 12q13.12 12q13.12 2013-05-01 2013-05-01 106481947 ENSG00000199903 NG_043132 HGNC:48236 +HGNC:48237 RNU6-1274P RNA, U6 small nuclear 1274, pseudogene pseudogene pseudogene Approved 10q24.1 10q24.1 2013-05-01 2013-05-01 106481582 ENSG00000207287 NG_044277 HGNC:48237 +HGNC:48238 RNU6-1275P RNA, U6 small nuclear 1275, pseudogene pseudogene pseudogene Approved 2q22.3 02q22.3 2013-05-01 2013-05-01 106480122 ENSG00000212389 NG_046026 HGNC:48238 +HGNC:48239 RNU6-1276P RNA, U6 small nuclear 1276, pseudogene pseudogene pseudogene Approved 8p21.1 08p21.1 2013-05-01 2013-05-01 106481583 ENSG00000202242 NG_008117 HGNC:48239 +HGNC:48240 RNU6-1277P RNA, U6 small nuclear 1277, pseudogene pseudogene pseudogene Approved 14q21.1 14q21.1 2013-05-01 2013-05-01 106480123 ENSG00000201431 NG_044900 HGNC:48240 +HGNC:48241 RNU6-1278P RNA, U6 small nuclear 1278, pseudogene pseudogene pseudogene Approved 18q21.1 18q21.1 2013-05-01 2013-05-01 106480124 ENSG00000251939 NG_044910 HGNC:48241 +HGNC:48242 RNU6-1279P RNA, U6 small nuclear 1279, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-05-01 2013-05-01 106480655 ENSG00000206644 NG_045287 HGNC:48242 +HGNC:48243 RNU6-1280P RNA, U6 small nuclear 1280, pseudogene pseudogene pseudogene Approved 15q25.3 15q25.3 2013-05-01 2013-05-01 106481584 ENSG00000202081 NG_044296 HGNC:48243 +HGNC:48244 RNU6-1281P RNA, U6 small nuclear 1281, pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2013-05-01 2013-05-01 106480125 ENSG00000252032 NG_044916 HGNC:48244 +HGNC:48245 RNU6-1282P RNA, U6 small nuclear 1282, pseudogene pseudogene pseudogene Approved 4q31.3 04q31.3 2013-05-01 2013-05-01 106481585 ENSG00000252544 NG_044303 HGNC:48245 +HGNC:48246 RNU6-1283P RNA, U6 small nuclear 1283, pseudogene pseudogene pseudogene Approved 1q44 01q44 2013-05-01 2013-05-01 106481782 ENSG00000202184 NG_045607 HGNC:48246 +HGNC:48247 RNU6-1284P RNA, U6 small nuclear 1284, pseudogene pseudogene pseudogene Approved 3q22.3 03q22.3 2013-05-01 2013-05-01 106480126 ENSG00000200571 NG_046042 HGNC:48247 +HGNC:48248 RNU6-1285P RNA, U6 small nuclear 1285, pseudogene pseudogene pseudogene Approved 4q31.3 04q31.3 2013-05-01 2013-05-01 106481948 ENSG00000200350 NG_045333 HGNC:48248 +HGNC:48249 RNU6-1286P RNA, U6 small nuclear 1286, pseudogene pseudogene pseudogene Approved 6q22.31 06q22.31 2013-05-01 2013-05-01 106481586 ENSG00000206598 NG_044311 HGNC:48249 +HGNC:48250 RNU6-1287P RNA, U6 small nuclear 1287, pseudogene pseudogene pseudogene Approved 15q21.3 15q21.3 2013-05-01 2013-05-01 106480127 ENSG00000199784 NG_044931 HGNC:48250 +HGNC:48251 RNU6-1288P RNA, U6 small nuclear 1288, pseudogene pseudogene pseudogene Approved 2p24.3 02p24.3 2013-05-01 2013-05-01 106480128 ENSG00000251859 NG_045234 HGNC:48251 +HGNC:48252 RNU6-1289P RNA, U6 small nuclear 1289, pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 2013-05-01 2013-05-01 106481587 ENSG00000207160 NG_044321 HGNC:48252 +HGNC:48253 RNU6-1290P RNA, U6 small nuclear 1290, pseudogene pseudogene pseudogene Approved 2q31.1 02q31.1 2013-05-01 2013-05-01 106480129 ENSG00000199827 NG_042910 HGNC:48253 +HGNC:48254 RNU6-1291P RNA, U6 small nuclear 1291, pseudogene pseudogene pseudogene Approved 14q22.1 14q22.1 2013-05-01 2013-05-01 106481588 ENSG00000252400 NG_044330 HGNC:48254 +HGNC:48255 RNU6-1292P RNA, U6 small nuclear 1292, pseudogene pseudogene pseudogene Approved 11q14.1 11q14.1 2013-05-01 2013-05-01 106480656 ENSG00000206583 NG_021375 HGNC:48255 +HGNC:48256 RNU6-1293P RNA, U6 small nuclear 1293, pseudogene pseudogene pseudogene Approved 9q21.11 09q21.11 2013-05-01 2013-05-01 106480130 ENSG00000206804 NG_042915 HGNC:48256 +HGNC:48257 RNU6-1294P RNA, U6 small nuclear 1294, pseudogene pseudogene pseudogene Approved 3q23 03q23 2013-05-01 2013-05-01 106480131 ENSG00000251804 NG_045248 HGNC:48257 +HGNC:48259 RNU6-1296P RNA, U6 small nuclear 1296, pseudogene pseudogene pseudogene Approved 5q11.1 05q11.1 2013-05-01 2013-05-01 106480132 ENSG00000206606 NG_042931 HGNC:48259 +HGNC:48260 RNU6-1297P RNA, U6 small nuclear 1297, pseudogene pseudogene pseudogene Approved 1q22 01q22 2013-05-01 2013-05-01 106480657 ENSG00000207144 NG_043046 HGNC:48260 +HGNC:48261 RNU6-1298P RNA, U6 small nuclear 1298, pseudogene pseudogene pseudogene Approved 4q22.1 04q22.1 2013-05-01 2013-05-01 106481590 ENSG00000199326 NG_045157 HGNC:48261 +HGNC:48262 RNU6-1299P RNA, U6 small nuclear 1299, pseudogene pseudogene pseudogene Approved 6q21 06q21 2013-05-01 2013-05-01 106480133 ENSG00000252125 NG_042940 HGNC:48262 +HGNC:48263 RNU6-1300P RNA, U6 small nuclear 1300, pseudogene pseudogene pseudogene Approved 8q21.11 08q21.11 2013-05-01 2013-05-01 106480134 ENSG00000212348 NG_042948 HGNC:48263 +HGNC:48264 RNU6-1301P RNA, U6 small nuclear 1301, pseudogene pseudogene pseudogene Approved 3p22.2 03p22.2 2013-05-01 2013-05-01 106481591 ENSG00000199594 NG_053016 HGNC:48264 +HGNC:48266 RNU6-1303P RNA, U6 small nuclear 1303, pseudogene pseudogene pseudogene Approved 9q21.2 09q21.2 2013-05-01 2013-05-01 106481949 ENSG00000201711 NG_045336 HGNC:48266 +HGNC:48267 RNU6-1304P RNA, U6 small nuclear 1304, pseudogene pseudogene pseudogene Approved 1q42.12 01q42.12 2013-05-01 2013-05-01 106480135 ENSG00000223306 NG_042956 HGNC:48267 +HGNC:48268 RNU6-1305P RNA, U6 small nuclear 1305, pseudogene pseudogene pseudogene Approved 5p13.2 05p13.2 2013-05-01 2013-05-01 106481592 ENSG00000201223 NG_029643 HGNC:48268 +HGNC:48269 RNU6-1306P RNA, U6 small nuclear 1306, pseudogene pseudogene pseudogene Approved 11q13.1 11q13.1 2013-05-01 2013-05-01 106480136 ENSG00000202089 NG_042965 HGNC:48269 +HGNC:48270 RNU6-1307P RNA, U6 small nuclear 1307, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 2013-05-01 2013-05-01 106481593 ENSG00000212314 NG_044371 HGNC:48270 +HGNC:48271 RNU6-1308P RNA, U6 small nuclear 1308, pseudogene pseudogene pseudogene Approved 3q13.12 03q13.12 2013-05-01 2013-05-01 106480137 ENSG00000252626 NG_042974 HGNC:48271 +HGNC:48272 RNU6-1309P RNA, U6 small nuclear 1309, pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 2013-05-01 2013-05-01 106480410 ENSG00000200175 NG_028248 HGNC:48272 +HGNC:48273 RNU6-1310P RNA, U6 small nuclear 1310, pseudogene pseudogene pseudogene Approved 1q24.2 01q24.2 2013-05-01 2013-05-01 106480658 ENSG00000206880 NG_043055 HGNC:48273 +HGNC:48274 RNU6-1311P RNA, U6 small nuclear 1311, pseudogene pseudogene pseudogene Approved 5q31.1 05q31.1 2013-05-01 2013-05-01 106480138 ENSG00000207459 NG_042982 HGNC:48274 +HGNC:48275 RNU6-1312P RNA, U6 small nuclear 1312, pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 2013-05-01 2013-05-01 106481594 ENSG00000199295 NG_044380 HGNC:48275 +HGNC:48276 RNU6-1313P RNA, U6 small nuclear 1313, pseudogene pseudogene pseudogene Approved 17q21.33 17q21.33 2013-05-01 2013-05-01 106480139 ENSG00000199492 NG_030592 HGNC:48276 +HGNC:48277 RNU6-1314P RNA, U6 small nuclear 1314, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2013-05-01 2013-05-01 106481595 ENSG00000252948 NG_044389 HGNC:48277 +HGNC:48278 RNU6-1315P RNA, U6 small nuclear 1315, pseudogene pseudogene pseudogene Approved 12p13.33 12p13.33 2013-05-01 2013-05-01 106481950 ENSG00000252996 NG_043157 HGNC:48278 +HGNC:48279 RNU6-1316P RNA, U6 small nuclear 1316, pseudogene pseudogene pseudogene Approved 14q32.32 14q32.32 2013-05-01 2013-05-01 106480140 ENSG00000206969 NG_027973 HGNC:48279 +HGNC:48280 RNU6-1317P RNA, U6 small nuclear 1317, pseudogene pseudogene pseudogene Approved 3q26.31 03q26.31 2013-05-01 2013-05-01 106481596 ENSG00000201452 NG_045827 HGNC:48280 +HGNC:48281 RNU6-1318P RNA, U6 small nuclear 1318, pseudogene pseudogene pseudogene Approved 1p21.2 01p21.2 2013-05-01 2013-05-01 106480141 ENSG00000202259 NG_043009 HGNC:48281 +HGNC:48282 RNU6-1319P RNA, U6 small nuclear 1319, pseudogene pseudogene pseudogene Approved 1q42.11 01q42.11 2013-05-01 2013-05-01 106480142 ENSG00000212157 NG_045284 HGNC:48282 +HGNC:48283 RNU6-1320P RNA, U6 small nuclear 1320, pseudogene pseudogene pseudogene Approved 2q11.1 02q11.1 2013-05-01 2013-05-01 106480659 ENSG00000212140 NG_045299 HGNC:48283 +HGNC:48284 RNU6-1321P RNA, U6 small nuclear 1321, pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 2013-05-01 2013-05-01 106481597 ENSG00000212207 NG_016754 HGNC:48284 +HGNC:48285 RNU6-1322P RNA, U6 small nuclear 1322, pseudogene pseudogene pseudogene Approved 7q22.3 07q22.3 2013-05-01 2013-05-01 106480143 ENSG00000201179 NG_045011 HGNC:48285 +HGNC:48286 RNU6-1323P RNA, U6 small nuclear 1323, pseudogene pseudogene pseudogene Approved Xq23 Xq23 2013-05-01 2013-05-01 106481598 ENSG00000206752 NG_044413 HGNC:48286 +HGNC:48287 RNU6-1324P RNA, U6 small nuclear 1324, pseudogene pseudogene pseudogene Approved 8q13.1 08q13.1 2013-05-01 2013-05-01 106480144 ENSG00000206949 NG_043034 HGNC:48287 +HGNC:48288 RNU6-1325P RNA, U6 small nuclear 1325, pseudogene pseudogene pseudogene Approved 4q13.1 04q13.1 2013-05-01 2013-05-01 106480145 ENSG00000201775 NG_043045 HGNC:48288 +HGNC:48289 RNU6-1326P RNA, U6 small nuclear 1326, pseudogene pseudogene pseudogene Approved 21q21.1 21q21.1 2013-05-01 2013-05-01 106481951 ENSG00000212564 NG_043164 HGNC:48289 +HGNC:48290 RNU6-1327P RNA, U6 small nuclear 1327, pseudogene pseudogene pseudogene Approved 9p24.3 09p24.3 2013-05-01 2013-05-01 106481599 ENSG00000202172 NG_016331 HGNC:48290 +HGNC:48291 RNU6-1328P RNA, U6 small nuclear 1328, pseudogene pseudogene pseudogene Approved 7q21.3 07q21.3 2013-05-01 2013-05-01 106480146 ENSG00000222870 NG_045014 HGNC:48291 +HGNC:48292 RNU6-1329P RNA, U6 small nuclear 1329, pseudogene pseudogene pseudogene Approved 12q22 12q22 2013-05-01 2013-05-01 106481600 ENSG00000202534 NG_044431 HGNC:48292 +HGNC:48293 RNU6-1330P RNA, U6 small nuclear 1330, pseudogene pseudogene pseudogene Approved 5q13.3 05q13.3 2013-05-01 2013-05-01 106480411 ENSG00000199645 NG_043129 HGNC:48293 +HGNC:48294 RNU6-1331P RNA, U6 small nuclear 1331, pseudogene pseudogene pseudogene Approved 8q11.23 08q11.23 2013-05-01 2013-05-01 106480147 ENSG00000200528 NG_045298 HGNC:48294 +HGNC:48295 RNU6-1332P RNA, U6 small nuclear 1332, pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 2013-05-01 2013-05-01 106480660 ENSG00000252475 NG_045303 HGNC:48295 +HGNC:48296 RNU6-1333P RNA, U6 small nuclear 1333, pseudogene pseudogene pseudogene Approved 2q37.3 02q37.3 2013-05-01 2013-05-01 106481601 ENSG00000251971 NG_045163 HGNC:48296 +HGNC:48297 RNU6-1334P RNA, U6 small nuclear 1334, pseudogene pseudogene pseudogene Approved Yp11.31 Yp11.31 2013-05-01 2013-05-01 106480148 ENSG00000251841 NG_043070 HGNC:48297 +HGNC:48298 RNU6-1335P RNA, U6 small nuclear 1335, pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 2013-05-01 2013-05-01 106480149 ENSG00000202296 NG_043076 HGNC:48298 +HGNC:48299 RNU6-1336P RNA, U6 small nuclear 1336, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 2013-05-01 2013-05-01 106480661 ENSG00000206613 NG_043077 HGNC:48299 +HGNC:48300 RNU6-1337P RNA, U6 small nuclear 1337, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 2013-05-01 2013-05-01 106481602 ENSG00000252334 NG_044445 HGNC:48300 +HGNC:48301 RNU6-1338P RNA, U6 small nuclear 1338, pseudogene pseudogene pseudogene Approved 6q14.1 06q14.1 2013-05-01 2013-05-01 106480150 ENSG00000252137 NG_043086 HGNC:48301 +HGNC:48302 RNU6-1339P RNA, U6 small nuclear 1339, pseudogene pseudogene pseudogene Approved 15q25.2 15q25.2 2013-05-01 2013-05-01 106481603 ENSG00000200444 NG_044455 HGNC:48302 +HGNC:48303 RNU6-1340P RNA, U6 small nuclear 1340, pseudogene pseudogene pseudogene Approved 16p12.3 16p12.3 2013-05-01 2013-05-01 106480151 ENSG00000207167 NG_045313 HGNC:48303 +HGNC:34017 RNU6ATAC RNA, U6atac small nuclear (U12-dependent splicing) non-coding RNA RNA, small nuclear Approved 9q34.2 09q34.2 RNU6ATAC1 RNA, U6atac small nuclear 1 "Small nuclear RNAs|Minor spliceosome" "849|1520" 2008-03-12 2014-11-19 100151684 ENSG00000221676 uc010nap.2 BX649601 NR_023344 601429 HGNC:34017 +HGNC:34092 RNU6ATAC2P RNA, U6atac small nuclear 2, pseudogene pseudogene pseudogene Approved 5q11.2 05q11.2 RNA, U6atac small nuclear 2 pseudogene 2008-05-01 2009-11-06 2010-09-17 2014-11-18 100151685 ENSG00000210678 uc063dst.1 NG_007720 HGNC:34092 +HGNC:34093 RNU6ATAC3P RNA, U6atac small nuclear 3, pseudogene pseudogene pseudogene Approved 17q21.32 17q21.32 RNA, U6atac small nuclear 3 pseudogene 2008-05-01 2010-09-17 2014-11-19 100151686 ENSG00000210709 uc060glr.1 NG_007721 HGNC:34093 +HGNC:34094 RNU6ATAC4P RNA, U6atac small nuclear 4, pseudogene pseudogene pseudogene Approved 3p22.2 03p22.2 RNA, U6atac small nuclear 4 pseudogene 2008-05-01 2010-09-17 2014-11-19 100151687 ENSG00000210181 uc062ibb.1 NG_007722 HGNC:34094 +HGNC:34095 RNU6ATAC5P RNA, U6atac small nuclear 5, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 RNA, U6atac small nuclear 5 pseudogene 2008-05-01 2010-09-17 2014-11-19 100151688 ENSG00000210839 uc062xfa.1 NG_007723 HGNC:34095 +HGNC:46905 RNU6ATAC6P RNA, U6atac small nuclear 6, pseudogene pseudogene pseudogene Approved 3p11.1 03p11.1 2013-04-03 2013-04-03 106479545 ENSG00000221059 uc021xbc.1 NG_044367 HGNC:46905 +HGNC:46906 RNU6ATAC7P RNA, U6atac small nuclear 7, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 2013-04-03 2013-04-03 106479546 ENSG00000221038 uc060drr.1 NG_044373 HGNC:46906 +HGNC:46907 RNU6ATAC8P RNA, U6atac small nuclear 8, pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 2013-04-03 2013-04-03 106481161 ENSG00000221387 uc064pge.1 NG_042978 HGNC:46907 +HGNC:46908 RNU6ATAC9P RNA, U6atac small nuclear 9, pseudogene pseudogene pseudogene Approved 14q22.2 14q22.2 2013-04-03 2013-04-03 106479547 ENSG00000252019 uc021rtg.1 NG_044383 HGNC:46908 +HGNC:46909 RNU6ATAC10P RNA, U6atac small nuclear 10, pseudogene pseudogene pseudogene Approved 5q23.3 05q23.3 2013-04-03 2013-04-03 106480540 ENSG00000221562 uc063grb.1 NG_045726 HGNC:46909 +HGNC:46910 RNU6ATAC11P RNA, U6atac small nuclear 11, pseudogene pseudogene pseudogene Approved 10q11.21 10q11.21 2013-04-03 2013-04-03 106481162 ENSG00000221468 uc057swe.1 NG_042984 HGNC:46910 +HGNC:46911 RNU6ATAC12P RNA, U6atac small nuclear 12, pseudogene pseudogene pseudogene Approved 11q25 11q25 2013-04-03 2013-04-03 106479548 ENSG00000252351 uc021qsi.1 NG_045825 HGNC:46911 +HGNC:46912 RNU6ATAC13P RNA, U6atac small nuclear 13, pseudogene pseudogene pseudogene Approved 4q33 04q33 2013-04-03 2013-04-03 106479549 ENSG00000251961 uc063ayk.1 NG_044400 HGNC:46912 +HGNC:46913 RNU6ATAC14P RNA, U6atac small nuclear 14, pseudogene pseudogene pseudogene Approved 2q31.1 02q31.1 2013-04-03 2013-04-03 106481163 ENSG00000252027 uc021vst.1 NG_042992 HGNC:46913 +HGNC:46914 RNU6ATAC15P RNA, U6atac small nuclear 15, pseudogene pseudogene pseudogene Approved 3q13.13 03q13.13 2013-04-03 2013-04-03 106481867 ENSG00000221206 uc021xce.1 NG_044516 HGNC:46914 +HGNC:46915 RNU6ATAC16P RNA, U6atac small nuclear 16, pseudogene pseudogene pseudogene Approved 3p21.1 03p21.1 2013-04-03 2013-04-03 106479550 ENSG00000221518 uc021wze.1 NG_032108 HGNC:46915 +HGNC:46916 RNU6ATAC17P RNA, U6atac small nuclear 17, pseudogene pseudogene pseudogene Approved 20p11.21 20p11.21 2013-04-03 2013-04-03 106481164 ENSG00000251883 uc061vyf.1 NG_043002 HGNC:46916 +HGNC:46917 RNU6ATAC18P RNA, U6atac small nuclear 18, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 2013-04-03 2013-04-03 106479551 ENSG00000221340 uc057cjz.1 NG_044417 HGNC:46917 +HGNC:46918 RNU6ATAC19P RNA, U6atac small nuclear 19, pseudogene pseudogene pseudogene Approved 2q31.3 02q31.3 2013-04-03 2013-04-03 106481165 ENSG00000221023 uc061qir.1 NG_045010 HGNC:46918 +HGNC:46919 RNU6ATAC20P RNA, U6atac small nuclear 20, pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 2013-04-03 2013-04-03 106480541 ENSG00000221363 uc060nvk.1 NG_044146 HGNC:46919 +HGNC:46920 RNU6ATAC21P RNA, U6atac small nuclear 21, pseudogene pseudogene pseudogene Approved 6p24.3 06p24.3 2013-04-03 2013-04-03 106479552 ENSG00000221583 uc063lsy.1 NG_044426 HGNC:46920 +HGNC:46921 RNU6ATAC22P RNA, U6atac small nuclear 22, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 2013-04-03 2013-04-03 106479553 ENSG00000252603 uc062erz.1 NG_044434 HGNC:46921 +HGNC:46922 RNU6ATAC23P RNA, U6atac small nuclear 23, pseudogene pseudogene pseudogene Approved Xq27.1 Xq27.1 2013-04-03 2013-04-03 106481166 ENSG00000221375 uc065bjt.1 NG_016550 HGNC:46922 +HGNC:46923 RNU6ATAC24P RNA, U6atac small nuclear 24, pseudogene pseudogene pseudogene Approved 3q29 03q29 2013-04-03 2013-04-03 106479554 ENSG00000252620 uc021xje.1 NG_045843 HGNC:46923 +HGNC:46924 RNU6ATAC25P RNA, U6atac small nuclear 25, pseudogene pseudogene pseudogene Approved 16q22.2 16q22.2 2013-04-03 2013-04-03 106480384 ENSG00000221725 uc059wsd.1 NG_042904 HGNC:46924 +HGNC:46925 RNU6ATAC26P RNA, U6atac small nuclear 26, pseudogene pseudogene pseudogene Approved 3p14.3 03p14.3 2013-04-03 2013-04-03 106480542 ENSG00000210841 uc062kxr.1 NG_044151 HGNC:46925 +HGNC:46926 RNU6ATAC27P RNA, U6atac small nuclear 27, pseudogene pseudogene pseudogene Approved 1p35.3 01p35.3 2013-04-03 2013-04-03 106481167 ENSG00000221216 uc057dyg.1 NG_045288 HGNC:46926 +HGNC:46927 RNU6ATAC28P RNA, U6atac small nuclear 28, pseudogene pseudogene pseudogene Approved 14q31.2 14q31.2 2013-04-03 2013-04-03 106479555 ENSG00000238561 uc059dzg.1 NG_044447 HGNC:46927 +HGNC:46928 RNU6ATAC29P RNA, U6atac small nuclear 29, pseudogene pseudogene pseudogene Approved 3p21.2 03p21.2 2013-04-03 2013-04-03 106481168 ENSG00000221015 uc062kgw.1 NG_043037 HGNC:46928 +HGNC:46929 RNU6ATAC30P RNA, U6atac small nuclear 30, pseudogene pseudogene pseudogene Approved 14q21.3 14q21.3 2013-04-03 2013-04-03 106481868 ENSG00000221114 uc059bgc.1 NG_052877 HGNC:46929 +HGNC:46930 RNU6ATAC31P RNA, U6atac small nuclear 31, pseudogene pseudogene pseudogene Approved 4q22.1 04q22.1 2013-04-03 2013-04-03 106481169 ENSG00000221440 uc062yck.1 NG_045013 HGNC:46930 +HGNC:46931 RNU6ATAC32P RNA, U6atac small nuclear 32, pseudogene pseudogene pseudogene Approved 8q11.23 08q11.23 2013-04-03 2013-04-03 106479556 ENSG00000251835 uc064mwt.1 NG_044457 HGNC:46931 +HGNC:46932 RNU6ATAC33P RNA, U6atac small nuclear 33, pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 2013-04-03 2013-04-03 106481170 ENSG00000221574 uc057yzv.1 NG_043056 HGNC:46932 +HGNC:46933 RNU6ATAC34P RNA, U6atac small nuclear 34, pseudogene pseudogene pseudogene Approved 20p11.23 20p11.23 2013-04-03 2013-04-03 106479557 ENSG00000221806 uc061vqz.1 NG_044460 HGNC:46933 +HGNC:46934 RNU6ATAC35P RNA, U6atac small nuclear 35, pseudogene pseudogene pseudogene Approved 1q41 01q41 2013-04-03 2016-11-08 106481171 ENSG00000221571 OTTHUMG00000185888 uc057por.1 NR_157260 HGNC:46934 +HGNC:46935 RNU6ATAC36P RNA, U6atac small nuclear 36, pseudogene pseudogene pseudogene Approved 5q13.3 05q13.3 2013-04-03 2013-04-03 106480543 ENSG00000252684 uc063esg.1 NG_044158 HGNC:46935 +HGNC:46936 RNU6ATAC37P RNA, U6atac small nuclear 37, pseudogene pseudogene pseudogene Approved 2p25.1 02p25.1 2013-04-03 2013-04-03 106479558 ENSG00000221255 uc061gkx.1 NG_044469 HGNC:46936 +HGNC:46937 RNU6ATAC38P RNA, U6atac small nuclear 38, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 2013-04-03 2013-04-03 106479559 ENSG00000221046 uc021wel.1 NG_044477 HGNC:46937 +HGNC:46938 RNU6ATAC39P RNA, U6atac small nuclear 39, pseudogene pseudogene pseudogene Approved 10p13 10p13 2013-04-03 2013-04-03 106481172 ENSG00000252118 uc057rtd.1 NG_045304 HGNC:46938 +HGNC:46939 RNU6ATAC40P RNA, U6atac small nuclear 40, pseudogene pseudogene pseudogene Approved 7q35 07q35 2013-04-03 2013-04-03 106479560 ENSG00000221507 uc022aok.1 NG_045171 HGNC:46939 +HGNC:46940 RNU6ATAC41P RNA, U6atac small nuclear 41, pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 2013-04-03 2013-04-03 106481869 ENSG00000221527 uc064pci.1 NG_044533 HGNC:46940 +HGNC:46941 RNU6ATAC42P RNA, U6atac small nuclear 42, pseudogene pseudogene pseudogene Approved 12q14.3 12q14.3 2013-04-03 2013-04-03 106481173 ENSG00000221564 uc021qzx.1 NG_027727 HGNC:46941 +HGNC:10230 RNU6V RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence pseudogene pseudogene Approved 1p13 01p13 "87U6|LH87" 1995-12-18 2010-03-12 6071 ENSG00000206832 uc031ukx.2 X54048 NG_009877 1829158 HGNC:10230 +HGNC:34033 RNU7-1 RNA, U7 small nuclear 1 non-coding RNA RNA, small nuclear Approved 12p13.31 12p13.31 U7.1 RNA, small nuclear U7.1 RNU7 "RNA, small nuclear U7|RNA, U7 small nuclear" Small nuclear RNAs 849 2008-03-21 2010-09-14 2010-09-14 2014-11-19 100147744 ENSG00000238923 uc031yrw.1 NR_023317 18267300 617876 HGNC:34033 +HGNC:34098 RNU7-2P RNA, U7 small nuclear 2 pseudogene pseudogene pseudogene Approved 2q22.3 02q22.3 U7.2 2008-05-08 2008-05-08 2015-03-04 100147745 ENSG00000251905 uc061olq.1 NG_007583 18267300 HGNC:34098 +HGNC:34099 RNU7-3P RNA, U7 small nuclear 3 pseudogene pseudogene pseudogene Approved 6q25.1 06q25.1 U7.3 2008-05-08 2008-05-08 2014-11-18 100147746 ENSG00000252244 uc063seh.1 NG_007584 18267300 HGNC:34099 +HGNC:34100 RNU7-4P RNA, U7 small nuclear 4 pseudogene pseudogene pseudogene Approved 12q15 12q15 U7.4 RNU7-132P RNA, U7 small nuclear 132 pseudogene 2008-05-08 2008-05-08 2014-11-19 100147747 ENSG00000252770 uc058qsy.1 NG_007585 18267300 HGNC:34100 +HGNC:34101 RNU7-5P RNA, U7 small nuclear 5 pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 U7.5 2008-05-08 2008-05-08 2015-01-29 100147748 NG_007586 18267300 HGNC:34101 +HGNC:34102 RNU7-6P RNA, U7 small nuclear 6 pseudogene pseudogene pseudogene Approved 20q13.2 20q13.2 U7.6 2008-05-08 2008-05-08 2014-11-18 100147749 ENSG00000252654 uc061xto.1 NG_007587 18267300 HGNC:34102 +HGNC:34103 RNU7-7P RNA, U7 small nuclear 7 pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 U7.7 2008-05-08 2014-11-18 100147755 ENSG00000238606 uc064yoe.1 NG_007594 18267300 HGNC:34103 +HGNC:34104 RNU7-8P RNA, U7 small nuclear 8 pseudogene pseudogene pseudogene Approved 1p31.1 01p31.1 U7.8 RNU7-139P RNA, U7 small nuclear 139 pseudogene 2008-05-08 2014-11-19 100147756 ENSG00000251767 uc057htk.1 NG_007595 18267300 HGNC:34104 +HGNC:34105 RNU7-9P RNA, U7 small nuclear 9 pseudogene pseudogene pseudogene Approved 2q36.3 02q36.3 U7.9 2008-05-08 2014-11-19 100147757 ENSG00000238782 uc021vxv.1 NG_007596 18267300 HGNC:34105 +HGNC:34106 RNU7-10P RNA, U7 small nuclear 10 pseudogene pseudogene pseudogene Approved 3p24.3 03p24.3 U7.10 2008-05-08 2015-02-05 100147758 ENSG00000271841 uc062hgt.1 NG_007597 18267300 HGNC:34106 +HGNC:34107 RNU7-11P RNA, U7 small nuclear 11 pseudogene pseudogene pseudogene Approved 4p14 04p14 U7.11 2008-05-08 2014-11-18 100147759 ENSG00000252796 uc062wbo.1 NG_007598 18267300 HGNC:34107 +HGNC:34108 RNU7-12P RNA, U7 small nuclear 12 pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 U7.12 RNU7-100P RNA, U7 small nuclear 100 pseudogene 2008-05-08 2014-11-19 100147760 ENSG00000251839 uc057sjy.1 NG_007599 18267300 HGNC:34108 +HGNC:34109 RNU7-13P RNA, U7 small nuclear 13 pseudogene pseudogene pseudogene Approved 1q25.3 01q25.3 U7.13 2008-05-08 2014-11-18 100147761 ENSG00000252222 uc057nxh.1 NG_007600 18267300 HGNC:34109 +HGNC:34110 RNU7-14P RNA, U7 small nuclear 14 pseudogene pseudogene pseudogene Approved 20q13.2 20q13.2 U7.14 2008-05-08 2014-11-18 100147762 ENSG00000238468 uc061xux.1 NG_007601 18267300 HGNC:34110 +HGNC:34111 RNU7-15P RNA, U7 small nuclear 15 pseudogene pseudogene pseudogene Approved 5q31.1 05q31.1 U7.15 2008-05-08 2014-11-18 100147763 NG_007602 18267300 HGNC:34111 +HGNC:34112 RNU7-16P RNA, U7 small nuclear 16 pseudogene pseudogene pseudogene Approved 7q32.1 07q32.1 U7.16 2008-05-08 2015-01-29 100147764 NG_007603 18267300 HGNC:34112 +HGNC:34113 RNU7-17P RNA, U7 small nuclear 17 pseudogene pseudogene pseudogene Approved 18q11.2 18q11.2 U7.17 2008-05-08 2014-11-19 100147765 NG_007604 18267300 HGNC:34113 +HGNC:34114 RNU7-18P RNA, U7 small nuclear 18 pseudogene pseudogene pseudogene Approved 3q29 03q29 U7.18 RNU7-142P RNA, U7 small nuclear 142 pseudogene 2008-05-08 2014-11-18 100147766 ENSG00000252174 uc062rzp.1 NG_007605 18267300 HGNC:34114 +HGNC:34115 RNU7-19P RNA, U7 small nuclear 19 pseudogene pseudogene pseudogene Approved 3p13 03p13 U7.19 2008-05-08 2014-11-18 100147767 ENSG00000238959 uc062lnw.1 NG_007606 18267300 HGNC:34115 +HGNC:34116 RNU7-20P RNA, U7 small nuclear 20 pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 U7.20 2008-05-08 2014-11-18 100147768 ENSG00000251712 uc064hbg.1 NG_007607 18267300 HGNC:34116 +HGNC:34117 RNU7-21P RNA, U7 small nuclear 21 pseudogene pseudogene pseudogene Approved 9q34.13 09q34.13 U7.21 2008-05-08 2014-11-19 100147769 ENSG00000238558 uc064wta.1 NG_007608 18267300 HGNC:34117 +HGNC:34118 RNU7-22P RNA, U7 small nuclear 22 pseudogene pseudogene pseudogene Approved 10p11.22 10p11.22 U7.22 2008-05-08 2014-11-19 100147770 ENSG00000252482 uc057spi.1 NG_007609 18267300 HGNC:34118 +HGNC:34119 RNU7-23P RNA, U7 small nuclear 23 pseudogene pseudogene pseudogene Approved 11q13.2 11q13.2 U7.23 2008-05-08 2014-11-18 100147771 ENSG00000239099 uc058ece.1 NG_007610 18267300 HGNC:34119 +HGNC:34120 RNU7-24P RNA, U7 small nuclear 24 pseudogene pseudogene pseudogene Approved 16p12.1 16p12.1 "U7.24|HSU7.25" RNU7P3 RNA, small nuclear U7 pseudogene 3 2008-05-08 2014-11-19 6074 ENSG00000239081 uc059sev.1 M35539 NG_007611 "18267300|2249787" HGNC:34120 +HGNC:34121 RNU7-25P RNA, U7 small nuclear 25 pseudogene pseudogene pseudogene Approved 18p11.31 18p11.31 U7.25 2008-05-08 2014-11-18 100147812 ENSG00000252353 uc060mxc.1 NG_007619 18267300 HGNC:34121 +HGNC:34122 RNU7-26P RNA, U7 small nuclear 26 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 U7.26 2008-05-08 2014-11-19 100147813 ENSG00000238610 uc063mkj.1 NG_007620 18267300 HGNC:34122 +HGNC:34123 RNU7-27P RNA, U7 small nuclear 27 pseudogene pseudogene pseudogene Approved 7q32.1 07q32.1 U7.27 2008-05-08 2014-11-18 100147814 ENSG00000238750 uc064htk.1 NG_007621 18267300 HGNC:34123 +HGNC:34124 RNU7-28P RNA, U7 small nuclear 28 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 U7.28 2008-05-08 2014-11-18 100147815 ENSG00000252568 uc057yze.1 NG_007622 18267300 HGNC:34124 +HGNC:34125 RNU7-29P RNA, U7 small nuclear 29 pseudogene pseudogene pseudogene Approved 1p35.3 01p35.3 U7.29 2008-05-08 2014-11-19 100147816 ENSG00000252429 uc057dta.1 NG_007623 18267300 HGNC:34125 +HGNC:34126 RNU7-30P RNA, U7 small nuclear 30 pseudogene pseudogene pseudogene Approved 14q32.11 14q32.11 U7.30 2008-05-08 2014-11-19 100147817 ENSG00000252644 uc059eie.1 NG_007624 18267300 HGNC:34126 +HGNC:34127 RNU7-31P RNA, U7 small nuclear 31 pseudogene pseudogene pseudogene Approved 17p13.2 17p13.2 U7.31 2008-05-08 2015-01-29 100147818 NG_007625 18267300 HGNC:34127 +HGNC:34128 RNU7-32P RNA, U7 small nuclear 32 pseudogene pseudogene pseudogene Approved 3q26.2 03q26.2 U7.32 2008-05-08 2014-11-19 100147819 NG_007626 18267300 HGNC:34128 +HGNC:34129 RNU7-33P RNA, U7 small nuclear 33 pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 U7.33 2008-05-08 2014-11-18 100147820 NG_007627 18267300 HGNC:34129 +HGNC:34130 RNU7-34P RNA, U7 small nuclear 34 pseudogene pseudogene pseudogene Approved 5q23.1 05q23.1 U7.34 2008-05-08 2014-11-19 100147821 ENSG00000238904 uc063ggf.1 NG_007628 18267300 HGNC:34130 +HGNC:34131 RNU7-35P RNA, U7 small nuclear 35 pseudogene pseudogene pseudogene Approved 7p14.1 07p14.1 U7.35 2008-05-08 2014-11-19 100147822 ENSG00000252983 uc064dcd.1 NG_007629 18267300 HGNC:34131 +HGNC:34132 RNU7-36P RNA, U7 small nuclear 36 pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 U7.36 RNU7-112P RNA, U7 small nuclear 112 pseudogene 2008-05-08 2015-01-29 100147823 NG_007630 18267300 HGNC:34132 +HGNC:34133 RNU7-37P RNA, U7 small nuclear 37 pseudogene pseudogene pseudogene Approved Xp11.22 Xp11.22 U7.37 2008-05-08 2014-11-19 100147824 ENSG00000251707 uc065axr.1 NG_007631 18267300 HGNC:34133 +HGNC:34134 RNU7-38P RNA, U7 small nuclear 38 pseudogene pseudogene pseudogene Approved 10q22.1 10q22.1 U7.38 2008-05-08 2014-11-18 100147825 ENSG00000238446 uc057twx.1 NG_007632 18267300 HGNC:34134 +HGNC:34135 RNU7-39P RNA, U7 small nuclear 39 pseudogene pseudogene pseudogene Approved 12q13.12 12q13.12 U7.39 2008-05-08 2014-11-18 100147826 NG_007633 18267300 HGNC:34135 +HGNC:34136 RNU7-40P RNA, U7 small nuclear 40 pseudogene pseudogene pseudogene Approved 12q13.3 12q13.3 U7.40 2008-05-08 2014-11-18 100147827 ENSG00000252206 uc058pnx.1 NG_007634 18267300 HGNC:34136 +HGNC:34137 RNU7-41P RNA, U7 small nuclear 41 pseudogene pseudogene pseudogene Approved 14q13.2 14q13.2 U7.41 2008-05-08 2014-11-18 100147828 ENSG00000251726 uc059asp.1 NG_007635 18267300 HGNC:34137 +HGNC:34138 RNU7-42P RNA, U7 small nuclear 42 pseudogene pseudogene pseudogene Approved 16q22.1 16q22.1 U7.42 2008-05-08 2014-11-19 100147829 NG_007636 18267300 HGNC:34138 +HGNC:34139 RNU7-43P RNA, U7 small nuclear 43 pseudogene pseudogene pseudogene Approved 17p13.1 17p13.1 U7.43 RNU7-118P RNA, U7 small nuclear 118 pseudogene 2008-05-08 2014-11-18 100147830 ENSG00000252363 uc060bcl.1 NG_007637 18267300 HGNC:34139 +HGNC:34140 RNU7-44P RNA, U7 small nuclear 44 pseudogene pseudogene pseudogene Approved 2q31.1 02q31.1 U7.44 2008-05-08 2014-11-19 100147831 NG_007638 18267300 HGNC:34140 +HGNC:34141 RNU7-45P RNA, U7 small nuclear 45 pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 U7.45 2008-05-08 2014-11-18 100147832 ENSG00000238829 uc061rjc.1 NG_007639 18267300 HGNC:34141 +HGNC:34142 RNU7-46P RNA, U7 small nuclear 46 pseudogene pseudogene pseudogene Approved 2q11.2 02q11.2 U7.46 2008-05-08 2014-11-19 100147833 ENSG00000238830 uc061mez.1 NG_007640 18267300 HGNC:34142 +HGNC:34143 RNU7-47P RNA, U7 small nuclear 47 pseudogene pseudogene pseudogene Approved 3q23 03q23 U7.47 2008-05-08 2014-11-19 100147834 ENSG00000251787 uc062opo.1 NG_007641 18267300 HGNC:34143 +HGNC:34144 RNU7-48P RNA, U7 small nuclear 48 pseudogene pseudogene pseudogene Approved 6q13 06q13 U7.48 2008-05-08 2014-11-18 100147835 ENSG00000238386 uc063pkx.1 NG_007642 18267300 HGNC:34144 +HGNC:34145 RNU7-49P RNA, U7 small nuclear 49 pseudogene pseudogene pseudogene Approved 11p15.2 11p15.2 U7.49 2008-05-08 2014-11-19 100147836 ENSG00000251991 uc021qee.1 NG_007643 18267300 HGNC:34145 +HGNC:34146 RNU7-50P RNA, U7 small nuclear 50 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 U7.50 2008-05-08 2014-11-19 100147837 ENSG00000238304 uc057ydg.1 NG_007644 18267300 HGNC:34146 +HGNC:34147 RNU7-51P RNA, U7 small nuclear 51 pseudogene pseudogene pseudogene Approved 14q31.1 14q31.1 U7.51 2008-05-08 2014-11-19 100151647 ENSG00000252369 uc059dzf.1 NG_007669 18267300 HGNC:34147 +HGNC:34148 RNU7-52P RNA, U7 small nuclear 52 pseudogene pseudogene pseudogene Approved 17q23.2 17q23.2 U7.52 2008-05-08 2014-11-18 100151648 ENSG00000251981 uc060ikv.1 NG_007670 18267300 HGNC:34148 +HGNC:34149 RNU7-53P RNA, U7 small nuclear 53 pseudogene pseudogene pseudogene Approved 5q23.3 05q23.3 U7.53 2008-05-08 2014-11-18 100151649 ENSG00000252514 uc063gre.1 NG_007671 18267300 HGNC:34149 +HGNC:34150 RNU7-54P RNA, U7 small nuclear 54 pseudogene pseudogene pseudogene Approved 7q32.1 07q32.1 U7.54 2008-05-08 2014-11-19 100151650 ENSG00000238590 uc064huc.1 NG_007672 18267300 HGNC:34150 +HGNC:10239 RNU7-55P RNA, U7 small nuclear 55 pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 "HSU7.36|U7.55" RNU7P4 RNA, small nuclear U7 pseudogene 4 1991-11-29 2008-05-13 2008-05-13 2014-11-18 6075 ENSG00000239078 uc064kcu.1 M35540 NG_001191 "2249787|18267300" HGNC:10239 +HGNC:34152 RNU7-56P RNA, U7 small nuclear 56 pseudogene pseudogene pseudogene Approved Xp22.2 Xp22.2 U7.56 2008-05-08 2014-11-18 100151651 ENSG00000238709 uc064ydy.1 NG_007673 18267300 HGNC:34152 +HGNC:34153 RNU7-57P RNA, U7 small nuclear 57 pseudogene pseudogene pseudogene Approved 1q21.3 01q21.3 U7.57 2008-05-08 2014-11-19 100151652 ENSG00000238365 uc057nld.1 NG_007674 18267300 HGNC:34153 +HGNC:34154 RNU7-58P RNA, U7 small nuclear 58 pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 U7.58 2008-05-08 2015-01-29 100151653 NG_007675 18267300 HGNC:34154 +HGNC:34155 RNU7-59P RNA, U7 small nuclear 59 pseudogene pseudogene pseudogene Approved 11q14.1 11q14.1 U7.59 2008-05-08 2014-11-19 100151654 ENSG00000238880 uc058fts.1 NG_007676 18267300 HGNC:34155 +HGNC:34156 RNU7-60P RNA, U7 small nuclear 60 pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 U7.60 2008-05-08 2014-11-18 100151655 ENSG00000251747 uc058lhi.1 NG_007677 18267300 HGNC:34156 +HGNC:34157 RNU7-61P RNA, U7 small nuclear 61 pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 U7.61 2008-05-08 2014-11-18 100151656 ENSG00000251706 uc059tex.1 NG_007678 18267300 HGNC:34157 +HGNC:34158 RNU7-62P RNA, U7 small nuclear 62 pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 U7.62 2008-05-08 2014-11-18 100151657 ENSG00000238653 uc057hfz.1 NG_007679 18267300 HGNC:34158 +HGNC:34159 RNU7-63P RNA, U7 small nuclear 63 pseudogene pseudogene pseudogene Approved 16p13.2 16p13.2 U7.63 2008-05-08 2014-11-19 100151658 ENSG00000238417 uc059qop.1 NG_007680 18267300 HGNC:34159 +HGNC:34160 RNU7-64P RNA, U7 small nuclear 64 pseudogene pseudogene pseudogene Approved 2p11.2 02p11.2 U7.64 2008-05-08 2015-01-29 100151662 NG_007681 18267300 HGNC:34160 +HGNC:34161 RNU7-65P RNA, U7 small nuclear 65 pseudogene pseudogene pseudogene Approved 6p12.3 06p12.3 U7.65 2008-05-08 2014-11-18 100151663 ENSG00000252457 uc021zah.1 NG_007682 18267300 HGNC:34161 +HGNC:34162 RNU7-66P RNA, U7 small nuclear 66 pseudogene pseudogene pseudogene Approved 6q12 06q12 U7.66 2008-05-08 2014-11-18 100151664 ENSG00000238949 uc063pje.1 NG_007683 18267300 HGNC:34162 +HGNC:34163 RNU7-67P RNA, U7 small nuclear 67 pseudogene pseudogene pseudogene Approved 8q22.3 08q22.3 U7.67 2008-05-08 2014-11-18 100151665 ENSG00000239115 uc064pdx.1 NG_007684 18267300 HGNC:34163 +HGNC:10236 RNU7-68P RNA, U7 small nuclear 68 pseudogene pseudogene pseudogene Approved Xq24 Xq24 "HSU7.732A|U7.68" RNU7P1 RNA, small nuclear U7 pseudogene 1 1991-11-29 2008-05-13 2008-05-13 2014-11-19 6072 M35537 NG_001188 "2249787|18267300" HGNC:10236 +HGNC:34165 RNU7-69P RNA, U7 small nuclear 69 pseudogene pseudogene pseudogene Approved Xq25 Xq25 U7.69 2008-05-08 2014-11-19 100151666 ENSG00000252178 uc065azj.1 NG_007685 18267300 HGNC:34165 +HGNC:34166 RNU7-70P RNA, U7 small nuclear 70 pseudogene pseudogene pseudogene Approved 1p13.2 01p13.2 U7.70 2008-05-08 2014-11-18 100151667 ENSG00000252750 uc057jle.1 NG_007686 18267300 HGNC:34166 +HGNC:34167 RNU7-71P RNA, U7 small nuclear 71 pseudogene pseudogene pseudogene Approved 16q22.2 16q22.2 U7.71 2008-05-08 2014-11-19 100151668 ENSG00000251868 uc021tle.1 NG_007687 18267300 HGNC:34167 +HGNC:34168 RNU7-72P RNA, U7 small nuclear 72 pseudogene pseudogene pseudogene Approved 20q13.13 20q13.13 U7.72 2008-05-08 2015-01-29 100151669 NG_007688 18267300 HGNC:34168 +HGNC:34169 RNU7-73P RNA, U7 small nuclear 73 pseudogene pseudogene pseudogene Approved 3p22.2 03p22.2 U7.73 2008-05-08 2014-11-19 100151670 ENSG00000239105 uc062idg.1 NG_007689 18267300 HGNC:34169 +HGNC:34170 RNU7-74P RNA, U7 small nuclear 74 pseudogene pseudogene pseudogene Approved 4p14 04p14 U7.74 2008-05-08 2014-11-19 100151671 ENSG00000239010 uc062wdf.1 NG_007690 18267300 HGNC:34170 +HGNC:34171 RNU7-75P RNA, U7 small nuclear 75 pseudogene pseudogene pseudogene Approved 5p13.2 05p13.2 U7.75 2008-05-08 2014-11-19 100151672 ENSG00000251880 uc063dbp.1 NG_007691 18267300 HGNC:34171 +HGNC:34172 RNU7-76P RNA, U7 small nuclear 76 pseudogene pseudogene pseudogene Approved 7p12.3 07p12.3 U7.76 2008-05-08 2015-01-29 100151673 NG_007692 18267300 HGNC:34172 +HGNC:34173 RNU7-77P RNA, U7 small nuclear 77 pseudogene pseudogene pseudogene Approved 10p11.21 10p11.21 U7.77 2008-05-08 2014-11-19 100151674 ENSG00000253054 uc057sss.1 NG_007693 18267300 HGNC:34173 +HGNC:34174 RNU7-78P RNA, U7 small nuclear 78 pseudogene pseudogene pseudogene Approved 1q25.1 01q25.1 U7.78 2008-05-08 2014-11-19 100151675 NG_007694 18267300 HGNC:34174 +HGNC:34175 RNU7-79P RNA, U7 small nuclear 79 pseudogene pseudogene pseudogene Approved 15q25.3 15q25.3 U7.79 2008-05-08 2014-11-19 100151676 ENSG00000251891 uc059muf.1 NG_007695 18267300 HGNC:34175 +HGNC:34176 RNU7-80P RNA, U7 small nuclear 80 pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 U7.80 2008-05-08 2014-11-19 100151677 ENSG00000238778 uc021oop.1 NG_007696 18267300 HGNC:34176 +HGNC:34177 RNU7-81P RNA, U7 small nuclear 81 pseudogene pseudogene pseudogene Approved 2p16.1 02p16.1 U7.81 2008-05-08 2014-11-19 100151678 ENSG00000252507 uc021vhq.1 NG_007697 18267300 HGNC:34177 +HGNC:34178 RNU7-82P RNA, U7 small nuclear 82 pseudogene pseudogene pseudogene Approved 3q26.1 03q26.1 U7.82 RNU7-163P RNA, U7 small nuclear 163 pseudogene 2008-05-08 2016-02-03 100151679 ENSG00000238924 NG_007698 18267300 HGNC:34178 +HGNC:34179 RNU7-83P RNA, U7 small nuclear 83 pseudogene pseudogene pseudogene Approved 7q31.1 07q31.1 U7.83 2008-05-08 2014-11-19 100151680 NG_007699 18267300 HGNC:34179 +HGNC:34180 RNU7-84P RNA, U7 small nuclear 84 pseudogene pseudogene pseudogene Approved 8q23.1 08q23.1 U7.84 2008-05-08 2014-11-18 100151681 ENSG00000251892 uc064plw.1 NG_007700 18267300 HGNC:34180 +HGNC:34181 RNU7-85P RNA, U7 small nuclear 85 pseudogene pseudogene pseudogene Approved 8q21.13 08q21.13 U7.85 2008-05-08 2014-11-18 100151682 ENSG00000238884 uc064nwq.1 NG_007701 18267300 HGNC:34181 +HGNC:10237 RNU7-86P RNA, U7 small nuclear 86 pseudogene pseudogene pseudogene Approved Xq24 Xq24 HSU7.7/32B RNU7P2 RNA, small nuclear U7 pseudogene 2 1991-11-29 2008-08-11 2008-08-11 2013-03-15 6073 M35538 NG_001189 2249787 HGNC:10237 +HGNC:42616 RNU7-87P RNA, U7 small nuclear 87 pseudogene pseudogene pseudogene Approved 13q21.32 13q21.32 2011-08-08 2011-08-08 100873842 ENSG00000238500 uc021rkh.1 NG_011876 HGNC:42616 +HGNC:42617 RNU7-88P RNA, U7 small nuclear 88 pseudogene pseudogene pseudogene Approved 13q21.2 13q21.2 2011-08-08 2011-08-08 100873843 ENSG00000239003 uc058xii.1 NG_032623 HGNC:42617 +HGNC:42618 RNU7-89P RNA, U7 small nuclear 89 pseudogene pseudogene pseudogene Approved 13q22.1 13q22.1 2011-08-08 2012-10-03 100873844 NG_032624 HGNC:42618 +HGNC:45624 RNU7-90P RNA, U7 small nuclear 90 pseudogene pseudogene pseudogene Approved 16q22.2 16q22.2 2013-03-19 2013-03-19 106479060 ENSG00000238731 uc059wzz.1 NG_044579 HGNC:45624 +HGNC:45626 RNU7-92P RNA, U7 small nuclear 92 pseudogene pseudogene pseudogene Approved 20q13.13 20q13.13 2013-03-19 2013-03-19 106479061 ENSG00000238785 uc061xor.1 NG_044588 HGNC:45626 +HGNC:45627 RNU7-93P RNA, U7 small nuclear 93 pseudogene pseudogene pseudogene Approved 14q13.3 14q13.3 2013-03-19 2013-03-19 106480813 ENSG00000238540 uc059awx.1 NG_044266 HGNC:45627 +HGNC:45628 RNU7-94P RNA, U7 small nuclear 94 pseudogene pseudogene pseudogene Approved 12q23.3 12q23.3 2013-03-19 2013-03-19 106481799 ENSG00000238609 uc058srb.1 NG_043974 HGNC:45628 +HGNC:45629 RNU7-95P RNA, U7 small nuclear 95 pseudogene pseudogene pseudogene Approved 1p32.3 01p32.3 2013-03-19 2013-03-19 106479062 ENSG00000239007 uc057gry.1 NG_045905 HGNC:45629 +HGNC:45630 RNU7-96P RNA, U7 small nuclear 96 pseudogene pseudogene pseudogene Approved 2q11.2 02q11.2 2013-03-19 2013-03-19 106480361 ENSG00000238719 uc061mcv.1 NG_045195 HGNC:45630 +HGNC:45631 RNU7-97P RNA, U7 small nuclear 97 pseudogene pseudogene pseudogene Approved 17q21.2 17q21.2 2013-03-19 2013-03-19 106479063 ENSG00000238704 uc060fis.1 NG_044606 HGNC:45631 +HGNC:45633 RNU7-99P RNA, U7 small nuclear 99 pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 2013-03-19 2013-03-19 106480814 ENSG00000252080 uc059qmw.1 NG_045789 HGNC:45633 +HGNC:45636 RNU7-102P RNA, U7 small nuclear 102 pseudogene pseudogene pseudogene Approved 8q13.2 08q13.2 2013-03-19 2013-03-19 106479064 ENSG00000238808 uc064nnb.1 NG_044616 HGNC:45636 +HGNC:45637 RNU7-103P RNA, U7 small nuclear 103 pseudogene pseudogene pseudogene Approved 12p13.33 12p13.33 2013-03-19 2013-03-19 107063544 ENSG00000238370 uc058jpp.1 NG_046362 HGNC:45637 +HGNC:45638 RNU7-104P RNA, U7 small nuclear 104 pseudogene pseudogene pseudogene Approved 2q31.2 02q31.2 2013-03-19 2013-03-19 106480448 ENSG00000238542 uc061qfz.1 NG_011618 HGNC:45638 +HGNC:45639 RNU7-105P RNA, U7 small nuclear 105 pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 2013-03-19 2013-03-19 106479065 ENSG00000251919 uc021qmy.1 NG_044623 HGNC:45639 +HGNC:45640 RNU7-106P RNA, U7 small nuclear 106 pseudogene pseudogene pseudogene Approved 12q21.31 12q21.31 2013-03-19 2013-03-19 106479066 ENSG00000238842 uc021raz.1 NG_044631 HGNC:45640 +HGNC:45641 RNU7-107P RNA, U7 small nuclear 107 pseudogene pseudogene pseudogene Approved 10q11.23 10q11.23 2013-03-19 2013-03-19 106479067 ENSG00000238523 uc057tgq.1 NG_045921 HGNC:45641 +HGNC:45644 RNU7-110P RNA, U7 small nuclear 110 pseudogene pseudogene pseudogene Approved 3p22.3 03p22.3 2013-03-19 2013-03-19 106480815 ENSG00000252700 uc062hxw.1 NG_044285 HGNC:45644 +HGNC:45645 RNU7-111P RNA, U7 small nuclear 111 pseudogene pseudogene pseudogene Approved 15q26.1 15q26.1 2013-03-19 2013-03-19 106481800 ENSG00000252645 uc059ncy.1 NG_043981 HGNC:45645 +HGNC:45647 RNU7-113P RNA, U7 small nuclear 113 pseudogene pseudogene pseudogene Approved 2p24.1 02p24.1 2013-03-19 2013-03-19 106479068 ENSG00000238735 uc061gym.1 NG_045186 HGNC:45647 +HGNC:45649 RNU7-115P RNA, U7 small nuclear 115 pseudogene pseudogene pseudogene Approved 17q24.1 17q24.1 2013-03-19 2013-03-19 106479069 ENSG00000252242 uc060ixy.1 NG_045931 HGNC:45649 +HGNC:45650 RNU7-116P RNA, U7 small nuclear 116 pseudogene pseudogene pseudogene Approved 14q23.2 14q23.2 2013-03-19 2013-03-19 106480816 ENSG00000252749 uc059cib.1 NG_044294 HGNC:45650 +HGNC:45653 RNU7-119P RNA, U7 small nuclear 119 pseudogene pseudogene pseudogene Approved 3p13 03p13 2013-03-19 2013-03-19 106479070 ENSG00000239119 uc062lok.1 NG_047128 HGNC:45653 +HGNC:45654 RNU7-120P RNA, U7 small nuclear 120 pseudogene pseudogene pseudogene Approved 12q21.33 12q21.33 2013-03-19 2013-03-19 106480817 ENSG00000238302 uc058ron.1 NG_044302 HGNC:45654 +HGNC:45655 RNU7-121P RNA, U7 small nuclear 121 pseudogene pseudogene pseudogene Approved 1p34.2 01p34.2 2013-03-19 2013-03-19 106480449 ENSG00000252413 uc057fcg.1 NG_043448 HGNC:45655 +HGNC:45657 RNU7-123P RNA, U7 small nuclear 123 pseudogene pseudogene pseudogene Approved 1p31.3 01p31.3 2013-03-19 2013-03-19 106479071 ENSG00000251720 uc057hfe.1 NG_044666 HGNC:45657 +HGNC:45658 RNU7-124P RNA, U7 small nuclear 124 pseudogene pseudogene pseudogene Approved 9p13.2 09p13.2 2013-03-19 2013-03-19 106479072 ENSG00000251745 uc064tds.1 NG_045945 HGNC:45658 +HGNC:45659 RNU7-125P RNA, U7 small nuclear 125 pseudogene pseudogene pseudogene Approved 16p13.12 16p13.12 RNU7-135P RNA, U7 small nuclear 135 pseudogene 2013-03-19 2016-02-10 106480818 ENSG00000238964 uc059rbh.1 NG_045798 HGNC:45659 +HGNC:45660 RNU7-126P RNA, U7 small nuclear 126 pseudogene pseudogene pseudogene Approved 4p15.2 04p15.2 2013-03-19 2013-03-19 106479073 ENSG00000238632 uc062vrn.1 NG_044679 HGNC:45660 +HGNC:45661 RNU7-127P RNA, U7 small nuclear 127 pseudogene pseudogene pseudogene Approved 2q37.2 02q37.2 2013-03-19 2013-03-19 106480362 ENSG00000238812 uc021vyr.1 NG_030314 HGNC:45661 +HGNC:45662 RNU7-128P RNA, U7 small nuclear 128 pseudogene pseudogene pseudogene Approved 3p21.31 03p21.31 2013-03-19 2013-03-19 106480819 ENSG00000253056 uc062jfx.1 NG_044319 HGNC:45662 +HGNC:45663 RNU7-129P RNA, U7 small nuclear 129 pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 2013-03-19 2013-03-19 106480450 ENSG00000251937 uc060nng.1 NG_043457 HGNC:45663 +HGNC:45664 RNU7-130P RNA, U7 small nuclear 130 pseudogene pseudogene pseudogene Approved 5p13.2 05p13.2 2013-03-19 2013-03-19 106479074 ENSG00000238441 uc063cyf.1 NG_044689 HGNC:45664 +HGNC:45667 RNU7-133P RNA, U7 small nuclear 133 pseudogene pseudogene pseudogene Approved 6p23 06p23 2013-03-19 2013-03-19 106479075 ENSG00000238987 uc063lzd.1 NG_044698 HGNC:45667 +HGNC:45668 RNU7-134P RNA, U7 small nuclear 134 pseudogene pseudogene pseudogene Approved 17q22 17q22 2013-03-19 2013-03-19 106480820 ENSG00000238447 uc060hvh.1 NG_044328 HGNC:45668 +HGNC:45670 RNU7-136P RNA, U7 small nuclear 136 pseudogene pseudogene pseudogene Approved 3q25.33 03q25.33 2013-03-19 2013-03-19 106479076 ENSG00000238427 uc062ppd.1 NG_044708 HGNC:45670 +HGNC:45671 RNU7-137P RNA, U7 small nuclear 137 pseudogene pseudogene pseudogene Approved 20p11.23 20p11.23 2013-03-19 2013-03-19 106480821 ENSG00000252597 uc061vpg.1 NG_044336 HGNC:45671 +HGNC:45672 RNU7-138P RNA, U7 small nuclear 138 pseudogene pseudogene pseudogene Approved 2p25.1 02p25.1 2013-03-19 2013-03-19 106481801 ENSG00000239053 uc061gqx.1 NG_050575 HGNC:45672 +HGNC:45674 RNU7-140P RNA, U7 small nuclear 140 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 2013-03-19 2013-03-19 106479077 ENSG00000238364 uc060tji.1 NG_044716 HGNC:45674 +HGNC:45675 RNU7-141P RNA, U7 small nuclear 141 pseudogene pseudogene pseudogene Approved 20q13.33 20q13.33 2013-03-19 2013-03-19 106480822 ENSG00000238777 uc061yeq.1 NG_044346 HGNC:45675 +HGNC:45677 RNU7-143P RNA, U7 small nuclear 143 pseudogene pseudogene pseudogene Approved 7p15.3 07p15.3 2013-03-19 2013-03-19 106479078 ENSG00000252590 uc064caq.1 NG_044725 HGNC:45677 +HGNC:45678 RNU7-144P RNA, U7 small nuclear 144 pseudogene pseudogene pseudogene Approved 20q13.13 20q13.13 2013-03-19 2013-03-19 106479079 ENSG00000238452 uc061xpc.1 NG_044736 HGNC:45678 +HGNC:45681 RNU7-147P RNA, U7 small nuclear 147 pseudogene pseudogene pseudogene Approved 2q33.1 02q33.1 2013-03-19 2013-03-19 106480451 ENSG00000238698 uc061rav.1 NG_043464 HGNC:45681 +HGNC:45682 RNU7-148P RNA, U7 small nuclear 148 pseudogene pseudogene pseudogene Approved 2q24.3 02q24.3 2013-03-19 2013-03-19 106480823 ENSG00000238357 uc061pfy.1 NG_050644 HGNC:45682 +HGNC:45683 RNU7-149P RNA, U7 small nuclear 149 pseudogene pseudogene pseudogene Approved 4q23 04q23 2013-03-19 2013-03-19 106479080 ENSG00000252548 uc062yjf.1 NG_044742 HGNC:45683 +HGNC:45685 RNU7-151P RNA, U7 small nuclear 151 pseudogene pseudogene pseudogene Approved 4q24 04q24 2013-03-19 2013-03-19 106480824 ENSG00000252739 uc062ypw.1 NG_045812 HGNC:45685 +HGNC:45686 RNU7-152P RNA, U7 small nuclear 152 pseudogene pseudogene pseudogene Approved 6q25.3 06q25.3 2013-03-19 2013-03-19 106479081 ENSG00000238789 uc063slx.1 NG_044750 HGNC:45686 +HGNC:45687 RNU7-153P RNA, U7 small nuclear 153 pseudogene pseudogene pseudogene Approved 8p22 08p22 2013-03-19 2013-03-19 106479082 ENSG00000252264 uc022asf.1 NG_044760 HGNC:45687 +HGNC:45688 RNU7-154P RNA, U7 small nuclear 154 pseudogene pseudogene pseudogene Approved 7q31.32 07q31.32 2013-03-19 2013-03-19 106481802 ENSG00000252003 uc022ako.1 NG_045118 HGNC:45688 +HGNC:45689 RNU7-155P RNA, U7 small nuclear 155 pseudogene pseudogene pseudogene Approved 17q24.3 17q24.3 2013-03-19 2013-03-19 106480825 ENSG00000238759 uc060jjb.1 NG_044368 HGNC:45689 +HGNC:45690 RNU7-156P RNA, U7 small nuclear 156 pseudogene pseudogene pseudogene Approved 5q31.3 05q31.3 2013-03-19 2013-03-19 106479083 ENSG00000253023 uc063igl.1 NG_044768 HGNC:45690 +HGNC:45691 RNU7-157P RNA, U7 small nuclear 157 pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 2013-03-19 2013-03-19 106480826 ENSG00000238431 uc064dwc.1 NG_044377 HGNC:45691 +HGNC:45693 RNU7-159P RNA, U7 small nuclear 159 pseudogene pseudogene pseudogene Approved 11q22.2 11q22.2 2013-03-19 2013-03-19 106481747 ENSG00000238562 uc058gwg.1 NG_043597 HGNC:45693 +HGNC:45694 RNU7-160P RNA, U7 small nuclear 160 pseudogene pseudogene pseudogene Approved 14q32.33 14q32.33 2013-03-19 2013-03-19 106479085 ENSG00000252469 uc059frn.1 NG_044783 HGNC:45694 +HGNC:45695 RNU7-161P RNA, U7 small nuclear 161 pseudogene pseudogene pseudogene Approved 5p13.1 05p13.1 2013-03-19 2013-03-19 106480452 ENSG00000253098 uc021xxs.1 NG_043471 HGNC:45695 +HGNC:45698 RNU7-164P RNA, U7 small nuclear 164 pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 2013-03-19 2013-03-19 106479086 ENSG00000238730 uc064ypa.1 NG_044794 HGNC:45698 +HGNC:45699 RNU7-165P RNA, U7 small nuclear 165 pseudogene pseudogene pseudogene Approved 10q25.3 10q25.3 2013-03-19 2013-03-19 106479087 ENSG00000238380 uc057wbo.1 NG_044801 HGNC:45699 +HGNC:45701 RNU7-167P RNA, U7 small nuclear 167 pseudogene pseudogene pseudogene Approved 22q12.3 22q12.3 2013-03-19 2013-03-19 106479088 ENSG00000238584 uc062dpv.1 NG_044809 HGNC:45701 +HGNC:45703 RNU7-169P RNA, U7 small nuclear 169 pseudogene pseudogene pseudogene Approved 12q24.11 12q24.11 2013-03-19 2013-03-19 106480827 ENSG00000238457 uc058swb.1 NG_044387 HGNC:45703 +HGNC:45704 RNU7-170P RNA, U7 small nuclear 170 pseudogene pseudogene pseudogene Approved 12q24.31 12q24.31 2013-03-19 2013-03-19 106480453 ENSG00000239082 uc058ujz.1 NG_045465 HGNC:45704 +HGNC:45705 RNU7-171P RNA, U7 small nuclear 171 pseudogene pseudogene pseudogene Approved 9q34.11 09q34.11 2013-03-19 2013-03-19 106479089 ENSG00000238406 uc022bok.1 NG_012073 HGNC:45705 +HGNC:45706 RNU7-172P RNA, U7 small nuclear 172 pseudogene pseudogene pseudogene Approved 2p16.2 02p16.2 2013-03-19 2013-03-19 106480828 ENSG00000252934 uc061jeb.1 NG_044396 HGNC:45706 +HGNC:45707 RNU7-173P RNA, U7 small nuclear 173 pseudogene pseudogene pseudogene Approved 20q13.13 20q13.13 2013-03-19 2013-03-19 106479090 ENSG00000238950 uc061xop.1 NG_044826 HGNC:45707 +HGNC:45708 RNU7-174P RNA, U7 small nuclear 174 pseudogene pseudogene pseudogene Approved 8q12.1 08q12.1 2013-03-19 2013-03-19 106480829 ENSG00000252057 uc064nyl.1 NG_044404 HGNC:45708 +HGNC:45709 RNU7-175P RNA, U7 small nuclear 175 pseudogene pseudogene pseudogene Approved 5q13.3 05q13.3 2013-03-19 2013-03-19 106479091 ENSG00000251724 uc063eqi.1 NG_044834 HGNC:45709 +HGNC:45710 RNU7-176P RNA, U7 small nuclear 176 pseudogene pseudogene pseudogene Approved 2p25.1 02p25.1 2013-03-19 2013-03-19 106481803 ENSG00000238962 uc061grc.1 NG_045119 HGNC:45710 +HGNC:45713 RNU7-179P RNA, U7 small nuclear 179 pseudogene pseudogene pseudogene Approved 1p36.21 01p36.21 2013-03-19 2013-03-19 106479092 ENSG00000252417 uc057coe.1 NG_044842 HGNC:45713 +HGNC:45714 RNU7-180P RNA, U7 small nuclear 180 pseudogene pseudogene pseudogene Approved 5q32 05q32 2013-03-19 2013-03-19 106480830 ENSG00000238374 uc063ihz.1 NG_044411 HGNC:45714 +HGNC:45715 RNU7-181P RNA, U7 small nuclear 181 pseudogene pseudogene pseudogene Approved 8q24.21 08q24.21 2013-03-19 2013-03-19 106479093 ENSG00000253043 uc064qgg.1 NG_044851 HGNC:45715 +HGNC:45716 RNU7-182P RNA, U7 small nuclear 182 pseudogene pseudogene pseudogene Approved 2q14.3 02q14.3 2013-03-19 2013-03-19 106480831 ENSG00000238788 uc061nnq.1 NG_045160 HGNC:45716 +HGNC:45717 RNU7-183P RNA, U7 small nuclear 183 pseudogene pseudogene pseudogene Approved 1q25.3 01q25.3 2013-03-19 2013-03-19 106480454 ENSG00000252407 uc057nyf.1 NG_043483 HGNC:45717 +HGNC:45719 RNU7-185P RNA, U7 small nuclear 185 pseudogene pseudogene pseudogene Approved 9p24.1 09p24.1 2013-03-19 2013-03-19 106479094 ENSG00000239102 uc064sco.1 NG_044861 HGNC:45719 +HGNC:45720 RNU7-186P RNA, U7 small nuclear 186 pseudogene pseudogene pseudogene Approved 17q21.32 17q21.32 2013-03-19 2013-03-19 106480363 ENSG00000238419 uc060gno.1 NG_008332 HGNC:45720 +HGNC:45721 RNU7-187P RNA, U7 small nuclear 187 pseudogene pseudogene pseudogene Approved 11q23.2 11q23.2 2013-03-19 2013-03-19 106479095 ENSG00000238998 uc021qqq.1 NG_046015 HGNC:45721 +HGNC:45722 RNU7-188P RNA, U7 small nuclear 188 pseudogene pseudogene pseudogene Approved 7q21.3 07q21.3 2013-03-19 2013-03-19 106480832 ENSG00000252872 uc064fok.1 NG_045161 HGNC:45722 +HGNC:45724 RNU7-190P RNA, U7 small nuclear 190 pseudogene pseudogene pseudogene Approved 2q14.1 02q14.1 2013-03-19 2013-03-19 106479096 ENSG00000239185 uc021vng.1 NG_044874 HGNC:45724 +HGNC:45726 RNU7-192P RNA, U7 small nuclear 192 pseudogene pseudogene pseudogene Approved 4q35.2 04q35.2 2013-03-19 2013-03-19 106480833 ENSG00000252275 uc063bql.1 NG_044438 HGNC:45726 +HGNC:45727 RNU7-193P RNA, U7 small nuclear 193 pseudogene pseudogene pseudogene Approved 10q11.21 10q11.21 2013-03-19 2013-03-19 106481804 ENSG00000252532 uc057swr.1 NG_045682 HGNC:45727 +HGNC:45728 RNU7-194P RNA, U7 small nuclear 194 pseudogene pseudogene pseudogene Approved 4q31.3 04q31.3 2013-03-19 2013-03-19 106480834 ENSG00000238721 uc063adt.1 NG_045846 HGNC:45728 +HGNC:45729 RNU7-195P RNA, U7 small nuclear 195 pseudogene pseudogene pseudogene Approved 15q26.1 15q26.1 2013-03-19 2013-03-19 106479097 ENSG00000239151 uc059mzj.1 NG_046023 HGNC:45729 +HGNC:45730 RNU7-196P RNA, U7 small nuclear 196 pseudogene pseudogene pseudogene Approved 5q13.2 05q13.2 2013-03-19 2013-03-19 106479098 ENSG00000238913 uc063enp.1 NG_044891 HGNC:45730 +HGNC:45731 RNU7-197P RNA, U7 small nuclear 197 pseudogene pseudogene pseudogene Approved 4q31.23 04q31.23 2013-03-19 2013-03-19 106480455 ENSG00000239168 uc063ade.1 NG_043490 HGNC:45731 +HGNC:45734 RNU7-200P RNA, U7 small nuclear 200 pseudogene pseudogene pseudogene Approved 1p36.12 01p36.12 2013-03-19 2013-03-19 106480835 ENSG00000251914 uc057dal.1 NG_044452 HGNC:45734 +HGNC:10108 RNU11 RNA, U11 small nuclear non-coding RNA RNA, small nuclear Approved 1p35.3 01p35.3 "U11|RNU11-1" "Small nuclear RNAs|U11/U12 di-snRNP" "849|1521" 1999-12-14 2015-01-27 26824 ENSG00000274978 OTTHUMG00000183994 uc009vtj.2 X58716 NR_004407 2973606 MGI:2148804 HGNC:10108 +HGNC:46942 RNU11-2P RNA, U11 small nuclear 2, pseudogene pseudogene pseudogene Approved 17p12 17p12 2013-04-03 2013-04-03 106479561 ENSG00000252707 uc021tqf.1 NG_044491 HGNC:46942 +HGNC:46943 RNU11-3P RNA, U11 small nuclear 3, pseudogene pseudogene pseudogene Approved 10q24.33 10q24.33 2013-04-03 2013-04-03 106479562 ENSG00000212413 uc057vsn.1 NG_045873 HGNC:46943 +HGNC:46944 RNU11-4P RNA, U11 small nuclear 4, pseudogene pseudogene pseudogene Approved 8q24.21 08q24.21 2013-04-03 2013-04-03 106481174 ENSG00000212451 uc064qda.1 NG_043089 HGNC:46944 +HGNC:46945 RNU11-5P RNA, U11 small nuclear 5, pseudogene pseudogene pseudogene Approved 14q12 14q12 2013-04-03 2013-04-03 106479563 ENSG00000212518 uc059akp.1 NG_044509 HGNC:46945 +HGNC:46946 RNU11-6P RNA, U11 small nuclear 6, pseudogene pseudogene pseudogene Approved 8q21.13 08q21.13 2013-04-03 2013-04-03 106480544 ENSG00000212429 uc064nyt.1 NG_045741 HGNC:46946 +HGNC:19380 RNU12 RNA, U12 small nuclear non-coding RNA RNA, small nuclear Approved 22q13.2 22q13.2 RNU12-1 RNA, U12 small nuclear 1 RNU12P RNA, U12 small nuclear pseudogene "Small nuclear RNAs|U11/U12 di-snRNP" "849|1521" 2002-10-30 2009-11-04 2009-11-04 2015-01-30 267010 ENSG00000276027 OTTHUMG00000183993 uc062ewf.1 L43846 NR_029422 7489523 HGNC:19380 +HGNC:10109 RNU12-2P RNA, U12 small nuclear 2, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 U12 "RNU12|RNU12P" "RNA, U12 small nuclear|RNA, U12 small nuclear pseudogene" 1999-12-14 2009-11-06 2011-04-15 2014-11-19 26823 ENSG00000201659 uc064ytu.1 L43845 NG_013273 7489523 HGNC:10109 +HGNC:10103 RNU105B RNA, U105B small nucleolar non-coding RNA RNA, small nucleolar Approved 20p12.3 20p12.3 E1-2 1999-12-14 2014-11-19 26767 ENSG00000201348 uc032pac.2 U12207 NR_004386 HGNC:10103 +HGNC:10104 RNU105C RNA, U105C small nucleolar non-coding RNA RNA, small nucleolar Approved 8q11.23 08q11.23 "E1-5|E1-6|U105C" 1999-12-14 2014-11-18 26766 ENSG00000199212 uc033blq.2 U12208 NR_004385 HGNC:10104 +HGNC:10133 RNVU1-1 RNA, variant U1 small nuclear 1 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 "vU1.1|U1P14|U1.4|vU1.10|RNU1-53" "RNU1P10|RNU1-10P|RNVU1-10" "RNA, U1 small nuclear pseudogene 10|RNA, U1 small nuclear 10, pseudogene|RNA, variant U1 small nuclear 10" Variant U1 small nuclear RNAs 1819 1999-12-14 2013-05-02 2013-05-02 2015-02-05 101954273 ENSG00000207340 M25188 NR_104082 "6085956|23070852" HGNC:10133 +HGNC:48308 RNVU1-2 RNA, variant U1 small nuclear 2 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 "vU1.2|RNU1-71|U1P1|U1.1|vU1.11|U1P2A" "RNU1-13P|RNU1P6|RNVU1-11|RNU1P2|RNU1-12P" "RNA, U1 small nuclear 13, pseudogene|RNA, U1 small nuclear pseudogene 6|RNA, variant U1 small nuclear 11|RNA, U1 small nuclear pseudogene 2|RNA, U1 small nuclear 12, pseudogene" Variant U1 small nuclear RNAs 1819 2013-04-25 2019-07-26 26860 ENSG00000238825 "JQ988795|JQ988805" NG_001263 23070852 HGNC:48308 +HGNC:54430 RNVU1-2A RNA, variant U1 small nuclear 2A non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 "vU1.2a|RNVU1.2a" Variant U1 small nuclear RNAs 1819 2019-07-26 2019-08-01 6063 ENSG00000278099 NR_145576 23070852 +HGNC:48311 RNVU1-3 RNA, variant U1 small nuclear 3 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 "vU1.3|RNU1-113|vU1.12|RNU1-151" RNVU1-12 RNA, variant U1 small nuclear 12 Variant U1 small nuclear RNAs 1819 2013-04-25 2015-01-29 101954272 ENSG00000201183 NR_104081 23070852 HGNC:48311 +HGNC:48312 RNVU1-4 RNA, variant U1 small nuclear 4 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 "vU1.4|RNU1-102|vU1.5|RNU1-50" RNVU1-5 RNA, variant U1 small nuclear 5 Variant U1 small nuclear RNAs 1819 2013-04-25 2015-02-06 101954264 ENSG00000277610 NR_104073 23070852 HGNC:48312 +HGNC:48314 RNVU1-6 RNA, variant U1 small nuclear 6 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 "vU1.6|RNU1-99" Variant U1 small nuclear RNAs 1819 2013-04-25 2013-05-15 101954276 ENSG00000201558 NR_104085 23070852 HGNC:48314 +HGNC:37500 RNVU1-7 RNA, variant U1 small nuclear 7 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 "vU1.7|vU1.9" "RNU1-9|RNU1-9P|RNVU1-9|RNU1-6P|RNU1-26P" "RNA, U1 small nuclear 9|RNA, U1 small nuclear 9, pseudogene|RNA, variant U1 small nuclear 9|RNA, U1 small nuclear 6, pseudogene|RNA, U1 small nuclear 26, pseudogene" Variant U1 small nuclear RNAs 1819 2009-04-25 2013-05-02 2013-05-02 2015-02-06 26864 ENSG00000206585 JQ988801 NR_004426 23070852 HGNC:37500 +HGNC:48315 RNVU1-8 RNA, variant U1 small nuclear 8 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 "vU1.8|RNU1-145" Variant U1 small nuclear RNAs 1819 2013-04-25 2018-11-07 101447996 ENSG00000286172 JQ988802 NR_121645 23070852 HGNC:48315 +HGNC:48319 RNVU1-14 RNA, variant U1 small nuclear 14 non-coding RNA RNA, small nuclear Approved 1q21.2 01q21.2 "vU1.14|RNU1-37" Variant U1 small nuclear RNAs 1819 2013-04-25 2013-05-15 101954266 ENSG00000207501 NR_104075 23070852 HGNC:48319 +HGNC:48320 RNVU1-15 RNA, variant U1 small nuclear 15 non-coding RNA RNA, small nuclear Approved 1q21.2 01q21.2 "vU1.15|RNU1-66|vU1.16|RNU1-121" RNVU1-16 RNA, variant U1 small nuclear 16 Variant U1 small nuclear RNAs 1819 2013-04-25 2014-11-19 101954267 ENSG00000207205 NR_104076 23070852 HGNC:48320 +HGNC:48322 RNVU1-17 RNA, variant U1 small nuclear 17 non-coding RNA RNA, small nuclear Approved 1q21.2 01q21.2 "vU1.17|RNU1-127" Variant U1 small nuclear RNAs 1819 2013-04-25 2013-05-15 101954269 ENSG00000207349 NR_104078 23070852 HGNC:48322 +HGNC:37496 RNVU1-18 RNA, variant U1 small nuclear 18 non-coding RNA RNA, small nuclear Approved 1q21.2 01q21.2 "vU1.18|U1P101|U1P15|U1.15" "RNU1P1|RNU1-5|RNU1-25|RNU1-25P" "RNA, U1 small nuclear pseudogene 1|RNA, U1 small nuclear 5|RNA, U1 small nuclear 25|RNA, U1 small nuclear 25, pseudogene" Variant U1 small nuclear RNAs 1819 2009-11-05 2013-05-02 2013-05-02 2014-11-18 26863 ENSG00000206737 JQ988812 NR_004400 23070852 HGNC:37496 +HGNC:48324 RNVU1-19 RNA, variant U1 small nuclear 19 non-coding RNA RNA, small nuclear Approved 1q21.2 01q21.2 "vU1.19|RNU1-126|vU1.13|RNU1-147" RNVU1-13 RNA, variant U1 small nuclear 13 Variant U1 small nuclear RNAs 1819 2013-04-25 2015-02-06 101954277 ENSG00000275538 NR_104086 23070852 HGNC:48324 +HGNC:48325 RNVU1-20 RNA, variant U1 small nuclear 20 non-coding RNA RNA, small nuclear Approved 1q21.2 not on reference assembly 01q21.2 not on reference assembly "vU1.20|RNU1-110" Variant U1 small nuclear RNAs 1819 2013-04-25 2015-01-29 101954268 NR_125392 23070852 +HGNC:48464 RNVU1-21 RNA, variant U1 small nuclear 21 non-coding RNA RNA, small nuclear Approved 1q21.2 01q21.2 RNU1-122P RNA, U1 small nuclear 122, pseudogene Variant U1 small nuclear RNAs 1819 2013-05-15 2019-07-26 2019-07-26 2019-07-26 106480190 ENSG00000202408 NG_043425 HGNC:48464 +HGNC:48462 RNVU1-22 RNA, variant U1 small nuclear 22 non-coding RNA RNA, small nuclear Approved 1q21.2 01q21.2 RNU1-120P RNA, U1 small nuclear 120, pseudogene Variant U1 small nuclear RNAs 1819 2013-05-15 2019-07-26 2019-07-26 2019-07-26 106481627 ENSG00000199879 NG_044643 HGNC:48462 +HGNC:48434 RNVU1-23 RNA, variant U1 small nuclear 23 non-coding RNA RNA, small nuclear Approved 1q21.2 01q21.2 RNU1-92P RNA, U1 small nuclear 92, pseudogene Variant U1 small nuclear RNAs 1819 2013-05-15 2019-07-26 2019-07-26 2019-07-26 106481620 ENSG00000252826 NG_044587 HGNC:48434 +HGNC:48401 RNVU1-24 RNA, variant U1 small nuclear 24 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 RNU1-59P RNA, U1 small nuclear 59, pseudogene Variant U1 small nuclear RNAs 1819 2013-05-15 2019-07-26 2019-07-26 2019-07-26 106480167 ENSG00000201699 NG_043231 HGNC:48401 +HGNC:54428 RNVU1-25 RNA, variant U1 small nuclear 25 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 Variant U1 small nuclear RNAs 1819 2019-07-26 2019-07-26 115409981 ENSG00000274428 +HGNC:54429 RNVU1-26 RNA, variant U1 small nuclear 26 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 Variant U1 small nuclear RNAs 1819 2019-07-26 2019-07-26 115409982 ENSG00000275291 +HGNC:54431 RNVU1-27 RNA, variant U1 small nuclear 27 non-coding RNA RNA, small nuclear Approved 1q21.2 01q21.2 Variant U1 small nuclear RNAs 1819 2019-07-26 2019-07-26 115409988 ENSG00000274210 +HGNC:54432 RNVU1-28 RNA, variant U1 small nuclear 28 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 Variant U1 small nuclear RNAs 1819 2019-07-26 2019-07-26 115409983 ENSG00000277918 +HGNC:54433 RNVU1-29 RNA, variant U1 small nuclear 29 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 Variant U1 small nuclear RNAs 1819 2019-07-26 2019-07-26 115409989 ENSG00000273768 +HGNC:54434 RNVU1-30 RNA, variant U1 small nuclear 30 non-coding RNA RNA, small nuclear Approved 1q21.2 01q21.2 Variant U1 small nuclear RNAs 1819 2019-07-26 2019-07-26 115409984 ENSG00000206828 +HGNC:54448 RNVU1-31 RNA, variant U1 small nuclear 31 non-coding RNA RNA, small nuclear Approved 1q21.1 01q21.1 Variant U1 small nuclear RNAs 1819 2019-07-25 2019-08-01 115482718 ENSG00000270722 +HGNC:48448 RNVU1-32 RNA, variant U1 small nuclear 32 non-coding RNA RNA, small nuclear Approved 8q24.21 08q24.21 U1A4 RNU1-106P RNA, U1 small nuclear 106, pseudogene Variant U1 small nuclear RNAs 1819 2013-05-15 2019-10-16 2019-10-16 2019-10-16 106481624 ENSG00000207110 NG_045914 16829670 HGNC:48448 +HGNC:48429 RNVU1-33 RNA, variant U1 small nuclear 33 non-coding RNA RNA, small nuclear Approved 6p21.2 06p21.2 U1A5 RNU1-87P RNA, U1 small nuclear 87, pseudogene Variant U1 small nuclear RNAs 1819 2013-05-15 2019-10-16 2019-10-16 2019-10-16 106480178 ENSG00000200597 NG_045404 16829670 HGNC:48429 +HGNC:48427 RNVU1-34 RNA, variant U1 small nuclear 34 non-coding RNA RNA, small nuclear Approved 17q22 17q22 U1A7 RNU1-85P RNA, U1 small nuclear 85, pseudogene Variant U1 small nuclear RNAs 1819 2013-05-15 2019-10-16 2019-10-16 2019-10-16 106480177 ENSG00000200997 NG_047169 16829670 HGNC:48427 +HGNC:10242 RNY1 RNA, Ro60-associated Y1 non-coding RNA RNA, Y Approved 7q36.1 07q36.1 hY1 "RNA, Y1 small cytoplasmic (associated with Ro protein)|RNA, Ro-associated Y1" RNAs, Ro60-associated Y 853 1993-08-25 2018-11-07 2018-11-07 6084 ENSG00000201098 uc033apb.1 V00584 NR_004391 6187471 MGI:97995 601821 HGNC:10242 +HGNC:42478 RNY1P1 RNY1 pseudogene 1 pseudogene pseudogene Approved 13q12.2 13q12.2 RNA, Ro-associated Y1 pseudogene 1 2011-08-02 2018-11-07 2018-11-07 100873802 ENSG00000201242 uc058wat.1 NG_032587 HGNC:42478 +HGNC:42479 RNY1P2 RNY1 pseudogene 2 pseudogene pseudogene Approved 13q33.1 13q33.1 RNA, Ro-associated Y1 pseudogene 2 2011-08-02 2018-11-07 2018-11-07 100862666 ENSG00000201690 uc058ybr.1 NG_032097 HGNC:42479 +HGNC:42480 RNY1P3 RNY1 pseudogene 3 pseudogene pseudogene Approved 13q12.13 13q12.13 RNA, Ro-associated Y1 pseudogene 3 2011-08-02 2018-11-07 2018-11-07 100873803 ENSG00000223158 uc058vzf.1 NG_042855 HGNC:42480 +HGNC:42481 RNY1P4 RNY1 pseudogene 4 pseudogene pseudogene Approved 13q13.1 13q13.1 RNA, Ro-associated Y1 pseudogene 4 2011-08-02 2018-11-07 2018-11-07 100873804 ENSG00000207325 uc058wgx.1 NG_032589 HGNC:42481 +HGNC:42482 RNY1P5 RNY1 pseudogene 5 pseudogene pseudogene Approved 13q22.1 13q22.1 RNA, Ro-associated Y1 pseudogene 5 2011-08-02 2018-11-07 2018-11-07 100862667 ENSG00000206617 uc058xlr.1 NG_032098 HGNC:42482 +HGNC:42483 RNY1P6 RNY1 pseudogene 6 pseudogene pseudogene Approved 13q14.3 13q14.3 RNA, Ro-associated Y1 pseudogene 6 2011-08-02 2018-11-07 2018-11-07 100873805 ENSG00000206920 uc058xfi.1 NG_032590 HGNC:42483 +HGNC:42484 RNY1P7 RNY1 pseudogene 7 pseudogene pseudogene Approved 13q12.12 13q12.12 RNA, Ro-associated Y1 pseudogene 7 2011-08-02 2018-11-07 2018-11-07 100873806 ENSG00000207474 uc058vya.1 NG_032591 HGNC:42484 +HGNC:42485 RNY1P8 RNY1 pseudogene 8 pseudogene pseudogene Approved 13q22.1 13q22.1 RNA, Ro-associated Y1 pseudogene 8 2011-08-02 2018-11-07 2018-11-07 100873807 ENSG00000206697 uc058xlh.1 NG_032592 HGNC:42485 +HGNC:41481 RNY1P9 RNY1 pseudogene 9 pseudogene pseudogene Approved 22q11.21 22q11.21 "KLHL22-IT1|RNYP1" "KLHL22 intronic transcript 1 (non-protein coding)|RNA, Ro-associated Y, pseudogene 1|RNA, Ro-associated Y1 pseudogene 9" 2011-08-03 2014-07-18 2018-11-07 2018-11-07 100874358 ENSG00000255156 OTTHUMG00000165837 NG_033992 HGNC:41481 +HGNC:50873 RNY1P10 RNY1 pseudogene 10 pseudogene pseudogene Approved 16p12.1 16p12.1 RNA, Ro-associated Y1 pseudogene 10 2014-07-18 2018-11-07 2018-11-07 106480308 ENSG00000200138 NG_044326 HGNC:50873 +HGNC:50874 RNY1P11 RNY1 pseudogene 11 pseudogene pseudogene Approved 7q32.1 07q32.1 RNA, Ro-associated Y1 pseudogene 11 2014-07-18 2018-11-07 2018-11-07 106481710 ENSG00000200629 NG_045391 HGNC:50874 +HGNC:50875 RNY1P12 RNY1 pseudogene 12 pseudogene pseudogene Approved 3q12.3 03q12.3 RNA, Ro-associated Y1 pseudogene 12 2014-07-18 2018-11-07 2018-11-07 106480309 ENSG00000201121 NG_045806 HGNC:50875 +HGNC:50876 RNY1P13 RNY1 pseudogene 13 pseudogene pseudogene Approved 1p13.2 01p13.2 RNA, Ro-associated Y1 pseudogene 13 2014-07-18 2018-11-07 2018-11-07 106480310 ENSG00000201900 NG_044344 HGNC:50876 +HGNC:50877 RNY1P14 RNY1 pseudogene 14 pseudogene pseudogene Approved 4q31.21 04q31.21 RNA, Ro-associated Y1 pseudogene 14 2014-07-18 2018-11-07 2018-11-07 106480311 ENSG00000207155 NG_045809 HGNC:50877 +HGNC:50878 RNY1P15 RNY1 pseudogene 15 pseudogene pseudogene Approved 9q33.2 09q33.2 RNA, Ro-associated Y1 pseudogene 15 2014-07-18 2018-11-07 2018-11-07 106481711 ENSG00000222351 NG_043306 HGNC:50878 +HGNC:50879 RNY1P16 RNY1 pseudogene 16 pseudogene pseudogene Approved 12q23.2 12q23.2 RNA, Ro-associated Y1 pseudogene 16 2014-07-18 2018-11-07 2018-11-07 106480312 ENSG00000199933 NG_045811 HGNC:50879 +HGNC:10243 RNY3 RNA, Ro60-associated Y3 non-coding RNA RNA, Y Approved 7q36.1 07q36.1 hY3 "RNA, Y3 small cytoplasmic (associated with Ro protein)|RNA, Ro-associated Y3" RNAs, Ro60-associated Y 853 1993-08-25 2018-11-07 2018-11-07 6085 ENSG00000202354 uc033aoz.1 V00585 NR_004392 "6187471|7539809" 601822 HGNC:10243 +HGNC:42477 RNY3P1 RNY3 pseudogene 1 pseudogene pseudogene Approved 5q14.1 05q14.1 RNA, Ro-associated Y3 pseudogene 1 2011-08-01 2018-11-07 2018-11-07 106478984 ENSG00000201955 uc032vaj.2 NG_043975 HGNC:42477 +HGNC:42486 RNY3P2 RNY3 pseudogene 2 pseudogene pseudogene Approved 13q14.2 13q14.2 RNA, Ro-associated Y3 pseudogene 2 2011-08-02 2018-11-07 2018-11-07 100862668 ENSG00000199788 uc032aff.2 NG_032099 HGNC:42486 +HGNC:42487 RNY3P3 RNY3 pseudogene 3 pseudogene pseudogene Approved 13q22.3 13q22.3 RNA, Ro-associated Y3 pseudogene 3 2011-08-02 2018-11-07 2018-11-07 100862669 ENSG00000200686 uc058xqp.1 NG_032100 HGNC:42487 +HGNC:42488 RNY3P4 RNY3 pseudogene 4 pseudogene pseudogene Approved 13q12.12 13q12.12 RNA, Ro-associated Y3 pseudogene 4 2011-08-02 2018-11-07 2018-11-07 100873808 ENSG00000207157 uc058vwr.1 NG_032593 HGNC:42488 +HGNC:42489 RNY3P5 RNY3 pseudogene 5 pseudogene pseudogene Approved 13q21.2 13q21.2 RNA, Ro-associated Y3 pseudogene 5 2011-08-02 2018-11-07 2018-11-07 100873809 ENSG00000206854 uc021rkf.3 NG_032594 HGNC:42489 +HGNC:42490 RNY3P6 RNY3 pseudogene 6 pseudogene pseudogene Approved 13q32.3 13q32.3 RNA, Ro-associated Y3 pseudogene 6 2011-08-02 2018-11-07 2018-11-07 100873810 NG_032595 HGNC:42490 +HGNC:42491 RNY3P7 RNY3 pseudogene 7 pseudogene pseudogene Approved 13q22.3 13q22.3 RNA, Ro-associated Y3 pseudogene 7 2011-08-02 2018-11-07 2018-11-07 100862670 ENSG00000206800 uc058xpj.1 NG_032101 HGNC:42491 +HGNC:42492 RNY3P8 RNY3 pseudogene 8 pseudogene pseudogene Approved 13q32.1 13q32.1 RNA, Ro-associated Y3 pseudogene 8 2011-08-02 2018-11-07 2018-11-07 106478985 ENSG00000223298 uc032amk.2 NG_043982 HGNC:42492 +HGNC:42493 RNY3P9 RNY3 pseudogene 9 pseudogene pseudogene Approved 13q14.11 13q14.11 RNA, Ro-associated Y3 pseudogene 9 2011-08-02 2018-11-07 2018-11-07 100862672 ENSG00000207458 uc058wos.1 NG_032102 HGNC:42493 +HGNC:42494 RNY3P10 RNY3 pseudogene 10 pseudogene pseudogene Approved 13q21.33 13q21.33 RNA, Ro-associated Y3 pseudogene 10 2011-08-02 2018-11-07 2018-11-07 100873820 ENSG00000207495 uc058xkd.1 NG_032600 HGNC:42494 +HGNC:50887 RNY3P11 RNY3 pseudogene 11 pseudogene pseudogene Approved 6q21 06q21 RNA, Ro-associated Y3 pseudogene 11 2014-07-18 2018-11-07 2018-11-07 106481713 ENSG00000201023 NG_045401 HGNC:50887 +HGNC:50888 RNY3P12 RNY3 pseudogene 12 pseudogene pseudogene Approved 10q23.33 10q23.33 RNA, Ro-associated Y3 pseudogene 12 2014-07-18 2018-11-07 2018-11-07 106480315 ENSG00000202297 NG_045823 HGNC:50888 +HGNC:50889 RNY3P13 RNY3 pseudogene 13 pseudogene pseudogene Approved 3q22.1 03q22.1 RNA, Ro-associated Y3 pseudogene 13 2014-07-18 2018-11-07 2018-11-07 106481714 ENSG00000202412 NG_043332 HGNC:50889 +HGNC:50893 RNY3P14 RNY3 pseudogene 14 pseudogene pseudogene Approved 8q13.3 08q13.3 RNA, Ro-associated Y3 pseudogene 14 2014-07-18 2018-11-07 2018-11-07 106480316 ENSG00000207036 NG_044394 HGNC:50893 +HGNC:50890 RNY3P15 RNY3 pseudogene 15 pseudogene pseudogene Approved 6p21.31 06p21.31 RNA, Ro-associated Y3 pseudogene 15 2014-07-18 2018-11-07 2018-11-07 107178919 ENSG00000252106 NG_046709 HGNC:50890 +HGNC:50891 RNY3P16 RNY3 pseudogene 16 pseudogene pseudogene Approved Xq24 Xq24 RNA, Ro-associated Y3 pseudogene 16 2014-07-18 2018-11-07 2018-11-07 106480686 ENSG00000252147 NG_045036 HGNC:50891 +HGNC:10244 RNY4 RNA, Ro60-associated Y4 non-coding RNA RNA, Y Approved 7q36.1 07q36.1 hY4 "RNA, Y4 small cytoplasmic (associated with Ro protein)|RNA, Ro-associated Y4" RNAs, Ro60-associated Y 853 1993-08-25 2018-11-07 2018-11-07 6086 ENSG00000252316 uc033aoy.1 L32608 NR_004393 "1698620|7520568" 601823 HGNC:10244 +HGNC:10245 RNY4P1 RNY4 pseudogene 1 pseudogene pseudogene Approved 9q21.13 09q21.13 hY4.B8 "RNA, Y4 small cytoplasmic (associated with Ro protein) pseudogene 1|RNA, Ro-associated Y4 pseudogene 1" 1993-08-25 2018-11-07 2018-11-07 6087 M77131 NG_005036 1378808 HGNC:10245 +HGNC:10246 RNY4P2 RNY4 pseudogene 2 pseudogene pseudogene Approved 17q21.31 17q21.31 hY4.B7 "RNA, Y4 small cytoplasmic (associated with Ro protein) pseudogene 2|RNA, Ro-associated Y4 pseudogene 2" 1993-08-25 2018-11-07 2018-11-07 6088 M77130 NG_005037 HGNC:10246 +HGNC:10247 RNY4P3 RNY4 pseudogene 3 pseudogene pseudogene Approved 16q12.1 16q12.1 hY4.F2 "RNA, Y4 small cytoplasmic (associated with Ro protein) pseudogene 3|RNA, Ro-associated Y4 pseudogene 3" 1993-08-25 2018-11-07 2018-11-07 6089 ENSG00000202124 uc059tzx.1 M77132 NG_005038 HGNC:10247 +HGNC:34050 RNY4P4 RNY4 pseudogene 4 pseudogene pseudogene Approved 3q22.3 03q22.3 RNA, Ro-associated Y4 pseudogene 4 2008-04-03 2018-11-07 2018-11-07 100379297 NG_016629 HGNC:34050 +HGNC:34052 RNY4P5 RNY4 pseudogene 5 pseudogene pseudogene Approved 8q24.13 08q24.13 RNA, Ro-associated Y4 pseudogene 5 2008-04-03 2018-11-07 2018-11-07 100379299 NG_016631 HGNC:34052 +HGNC:34055 RNY4P6 RNY4 pseudogene 6 pseudogene pseudogene Approved 11q23.3 11q23.3 RNA, Ro-associated Y4 pseudogene 6 2008-04-03 2018-11-07 2018-11-07 100379287 ENSG00000200537 uc058hrp.1 NG_016611 HGNC:34055 +HGNC:34056 RNY4P7 RNY4 pseudogene 7 pseudogene pseudogene Approved 2q14.3 02q14.3 RNA, Ro-associated Y4 pseudogene 7 2008-04-03 2018-11-07 2018-11-07 100169850 ENSG00000201470 uc032obl.2 NG_008007 HGNC:34056 +HGNC:34057 RNY4P8 RNY4 pseudogene 8 pseudogene pseudogene Approved 17q21.2 17q21.2 RNA, Ro-associated Y4 pseudogene 8 2008-04-03 2018-11-07 2018-11-07 100379295 NR_033356 HGNC:34057 +HGNC:34058 RNY4P9 RNY4 pseudogene 9 pseudogene pseudogene Approved 13q14.3 13q14.3 RNA, Ro-associated Y4 pseudogene 9 2008-04-03 2018-11-07 2018-11-07 100379300 ENSG00000200064 uc058xat.1 NG_016632 HGNC:34058 +HGNC:34060 RNY4P10 RNY4 pseudogene 10 pseudogene pseudogene Approved 6p21.3 06p21.3 RNA, Ro-associated Y4 pseudogene 10 2008-04-04 2018-11-07 2018-11-07 100379592 ENSG00000202441 uc021ywi.2 NG_016642 HGNC:34060 +HGNC:34061 RNY4P11 RNY4 pseudogene 11 pseudogene pseudogene Approved 20p11.23 20p11.23 RNA, Ro-associated Y4 pseudogene 11 2008-04-04 2018-11-07 2018-11-07 100379288 NG_016612 HGNC:34061 +HGNC:34063 RNY4P13 RNY4 pseudogene 13 pseudogene pseudogene Approved 17q11.2 17q11.2 RNA, Ro-associated Y4 pseudogene 13 2008-04-04 2018-11-07 2018-11-07 100379296 ENSG00000207011 OTTHUMG00000179920 uc060dls.1 NG_016628 HGNC:34063 +HGNC:34064 RNY4P14 RNY4 pseudogene 14 pseudogene pseudogene Approved 13q13.3 13q13.3 RNA, Ro-associated Y4 pseudogene 14 2008-04-04 2018-11-07 2018-11-07 100379584 ENSG00000200526 uc058woo.1 NG_016641 HGNC:34064 +HGNC:34065 RNY4P15 RNY4 pseudogene 15 pseudogene pseudogene Approved 2p11.2 02p11.2 RNA, Ro-associated Y4 pseudogene 15 2008-04-04 2018-11-07 2018-11-07 100379291 NG_016613 HGNC:34065 +HGNC:34066 RNY4P16 RNY4 pseudogene 16 pseudogene pseudogene Approved 1q42.11 01q42.11 RNA, Ro-associated Y4 pseudogene 16 2008-04-04 2018-11-07 2018-11-07 100431173 ENSG00000201638 uc057qmn.1 NG_021236 HGNC:34066 +HGNC:34067 RNY4P17 RNY4 pseudogene 17 pseudogene pseudogene Approved 4q32.3 04q32.3 RNA, Ro-associated Y4 pseudogene 17 2008-04-04 2018-11-07 2018-11-07 100379564 ENSG00000201818 uc021xui.1 NG_016640 HGNC:34067 +HGNC:34068 RNY4P18 RNY4 pseudogene 18 pseudogene pseudogene Approved 9q31.3 09q31.3 RNA, Ro-associated Y4 pseudogene 18 2008-04-04 2018-11-07 2018-11-07 100379298 ENSG00000212409 uc064var.1 NG_016630 HGNC:34068 +HGNC:34069 RNY4P19 RNY4 pseudogene 19 pseudogene pseudogene Approved 2q36.3 02q36.3 RNA, Ro-associated Y4 pseudogene 19 2008-04-04 2018-11-07 2018-11-07 100169834 ENSG00000199400 uc061thw.1 NG_007997 HGNC:34069 +HGNC:34070 RNY4P20 RNY4 pseudogene 20 pseudogene pseudogene Approved 6q25.1 06q25.1 RNA, Ro-associated Y4 pseudogene 20 2008-04-04 2018-11-07 2018-11-07 100379378 ENSG00000252487 uc032xoy.2 NG_029875 HGNC:34070 +HGNC:42471 RNY4P21 RNY4 pseudogene 21 pseudogene pseudogene Approved 14q24.3 14q24.3 RNA, Ro-associated Y4 pseudogene 21 2011-08-01 2018-11-07 2018-11-07 100862663 NG_032094 HGNC:42471 +HGNC:42472 RNY4P22 RNY4 pseudogene 22 pseudogene pseudogene Approved 3p24.3 03p24.3 RNA, Ro-associated Y4 pseudogene 22 2011-08-01 2018-11-07 2018-11-07 100873800 NG_032585 HGNC:42472 +HGNC:42473 RNY4P23 RNY4 pseudogene 23 pseudogene pseudogene Approved Xq13.1 Xq13.1 RNA, Ro-associated Y4 pseudogene 23 2011-08-01 2018-11-07 2018-11-07 100873801 ENSG00000201377 uc064zsp.1 NG_016799 HGNC:42473 +HGNC:42474 RNY4P24 RNY4 pseudogene 24 pseudogene pseudogene Approved 13q14.3 13q14.3 RNA, Ro-associated Y4 pseudogene 24 2011-08-01 2018-11-07 2018-11-07 100862664 ENSG00000199605 uc058xgp.1 NG_047168 HGNC:42474 +HGNC:42475 RNY4P25 RNY4 pseudogene 25 pseudogene pseudogene Approved 1q21.3 01q21.3 RNA, Ro-associated Y4 pseudogene 25 2011-08-01 2018-11-07 2018-11-07 100862665 ENSG00000238711 uc057kwx.1 NG_046601 HGNC:42475 +HGNC:42476 RNY4P26 RNY4 pseudogene 26 pseudogene pseudogene Approved 10q23.33 10q23.33 RNA, Ro-associated Y4 pseudogene 26 2011-08-01 2018-11-07 2018-11-07 100873819 NG_032599 HGNC:42476 +HGNC:42495 RNY4P27 RNY4 pseudogene 27 pseudogene pseudogene Approved 13q32.1 13q32.1 RNA, Ro-associated Y4 pseudogene 27 2011-08-02 2018-11-07 2018-11-07 100873821 ENSG00000200211 uc032aml.2 NG_032601 HGNC:42495 +HGNC:42496 RNY4P28 RNY4 pseudogene 28 pseudogene pseudogene Approved 13q21.2 13q21.2 RNA, Ro-associated Y4 pseudogene 28 2011-08-02 2018-11-07 2018-11-07 100873822 ENSG00000202151 uc058xim.1 NG_032602 HGNC:42496 +HGNC:42497 RNY4P29 RNY4 pseudogene 29 pseudogene pseudogene Approved 13q21.1 13q21.1 RNA, Ro-associated Y4 pseudogene 29 2011-08-02 2018-11-07 2018-11-07 100873823 ENSG00000222733 uc058xig.1 NG_032603 HGNC:42497 +HGNC:42498 RNY4P30 RNY4 pseudogene 30 pseudogene pseudogene Approved 13q14.2 13q14.2 RNA, Ro-associated Y4 pseudogene 30 2011-08-02 2018-11-07 2018-11-07 100862673 ENSG00000222148 uc058xas.1 NG_032103 HGNC:42498 +HGNC:42499 RNY4P31 RNY4 pseudogene 31 pseudogene pseudogene Approved 13q21.2 13q21.2 RNA, Ro-associated Y4 pseudogene 31 2011-08-02 2018-11-07 2018-11-07 100862674 NG_032104 HGNC:42499 +HGNC:50882 RNY4P34 RNY4 pseudogene 34 pseudogene pseudogene Approved 2q33.1 02q33.1 RNA, Ro-associated Y4 pseudogene 34 2014-07-18 2018-11-07 2018-11-07 106481712 ENSG00000201649 NG_045038 HGNC:50882 +HGNC:50884 RNY4P36 RNY4 pseudogene 36 pseudogene pseudogene Approved 17q25.1 17q25.1 RNA, Ro-associated Y4 pseudogene 36 2014-07-18 2018-11-07 2018-11-07 106480313 ENSG00000212418 NG_045818 HGNC:50884 +HGNC:50885 RNY4P37 RNY4 pseudogene 37 pseudogene pseudogene Approved 18q21.1 18q21.1 RNA, Ro-associated Y4 pseudogene 37 2014-07-18 2018-11-07 2018-11-07 106480314 ENSG00000252034 NG_044375 HGNC:50885 +HGNC:10248 RNY5 RNA, Ro60-associated Y5 non-coding RNA RNA, Y Approved 7q36.1 07q36.1 hY5 "RNA, Y5 small cytoplasmic (associated with Ro protein)|RNA, Ro-associated Y5" RNAs, Ro60-associated Y 853 1994-12-12 2018-11-07 2018-11-07 6090 U64824 NR_001571 "6816230|8836182" 601824 HGNC:10248 +HGNC:34082 RNY5P1 RNY5 pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 RNA, Ro-associated Y5 pseudogene 1 2008-05-01 2018-11-07 2018-11-07 100379666 NG_016725 HGNC:34082 +HGNC:34083 RNY5P2 RNY5 pseudogene 2 pseudogene pseudogene Approved 2q33.1 02q33.1 RNA, Ro-associated Y5 pseudogene 2 2008-05-01 2018-11-07 2018-11-07 100381208 NG_016767 HGNC:34083 +HGNC:34084 RNY5P3 RNY5 pseudogene 3 pseudogene pseudogene Approved 3q26.2 03q26.2 RNA, Ro-associated Y5 pseudogene 3 2008-05-01 2018-11-07 2018-11-07 100379664 NG_016720 HGNC:34084 +HGNC:34085 RNY5P4 RNY5 pseudogene 4 pseudogene pseudogene Approved 4q28.2 04q28.2 RNA, Ro-associated Y5 pseudogene 4 2008-05-01 2018-11-07 2018-11-07 100380271 NG_016727 HGNC:34085 +HGNC:34086 RNY5P5 RNY5 pseudogene 5 pseudogene pseudogene Approved 6p22.3 06p22.3 RNA, Ro-associated Y5 pseudogene 5 2008-05-01 2018-11-07 2018-11-07 100379658 NG_016705 HGNC:34086 +HGNC:34087 RNY5P6 RNY5 pseudogene 6 pseudogene pseudogene Approved 8p11.21 08p11.21 RNA, Ro-associated Y5 pseudogene 6 2008-05-01 2018-11-07 2018-11-07 100379663 NG_016719 HGNC:34087 +HGNC:34088 RNY5P7 RNY5 pseudogene 7 pseudogene pseudogene Approved 10q24.31 10q24.31 RNA, Ro-associated Y5 pseudogene 7 2008-05-01 2018-11-07 2018-11-07 100169835 NG_007998 HGNC:34088 +HGNC:34089 RNY5P8 RNY5 pseudogene 8 pseudogene pseudogene Approved 13q33.1 13q33.1 RNA, Ro-associated Y5 pseudogene 8 2008-05-01 2018-11-07 2018-11-07 100380878 NG_016734 HGNC:34089 +HGNC:34090 RNY5P9 RNY5 pseudogene 9 pseudogene pseudogene Approved 16q21 16q21 RNA, Ro-associated Y5 pseudogene 9 2008-05-01 2018-11-07 2018-11-07 100169836 NG_007999 HGNC:34090 +HGNC:34091 RNY5P10 RNY5 pseudogene 10 pseudogene pseudogene Approved 19q13.12 19q13.12 RNA, Ro-associated Y5 pseudogene 10 2008-05-01 2018-11-07 2018-11-07 100169837 NG_008006 HGNC:34091 +HGNC:11313 RO60 Ro60, Y RNA binding protein protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "60 kDa SS-A/Ro ribonucleoprotein|Ro/SSA 60kDa" "SSA2|TROVE2" "Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)|TROVE domain family, member 2|TROVE domain family member 2" 1994-06-17 2018-11-07 2018-11-07 2020-05-04 6738 ENSG00000116747 OTTHUMG00000035675 uc001gsv.3 BC036658 NM_004600 "CCDS41449|CCDS53451|CCDS86042|CCDS1379|CCDS41450" P10155 "8188321|3200833|7829096" MGI:106652 RGD:1305083 600063 HGNC:11313 "ENST00000400968.7|NM_001173524.2" +HGNC:10249 ROBO1 roundabout guidance receptor 1 protein-coding gene gene with protein product Approved 3p12.3 03p12.3 "DUTT1|FLJ21882|SAX3" "roundabout (axon guidance receptor, Drosophila) homolog 1|roundabout, axon guidance receptor, homolog 1 (Drosophila)" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1998-03-26 2015-06-26 2021-05-26 6091 ENSG00000169855 OTTHUMG00000158843 uc003dqd.3 AF040990 NM_002941 "CCDS46872|CCDS54610|CCDS54611" Q9Y6N7 "9458045|9608531" MGI:1274781 RGD:61941 602430 HGNC:10249 "ENST00000464233.6|NM_002941.4" HGNC:10249 +HGNC:10250 ROBO2 roundabout guidance receptor 2 protein-coding gene gene with protein product Approved 3p12.3 03p12.3 KIAA1568 "roundabout (axon guidance receptor, Drosophila) homolog 2|roundabout, axon guidance receptor, homolog 2 (Drosophila)" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 1998-03-26 2015-06-26 2021-05-26 6092 ENSG00000185008 OTTHUMG00000158935 uc003dpy.5 AF040991 NM_001128929 "CCDS43109|CCDS54609" Q9HCK4 9458045 MGI:1890110 RGD:620167 602431 289371 HGNC:10250 HGNC:10250 +HGNC:44386 ROBO2P1 roundabout guidance receptor 2 pseudogene 1 pseudogene pseudogene Approved 7p12.1 07p12.1 ROBO2 pseudogene 1 2012-09-17 2015-06-26 2015-06-26 106480790 ENSG00000229478 OTTHUMG00000156001 NG_044091 PGOHUM00000232694 HGNC:44386 +HGNC:13433 ROBO3 roundabout guidance receptor 3 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "RBIG1|FLJ21044|HGPS" HGPPS "roundabout (axon guidance receptor, Drosophila) homolog 3|horizontal gaze palsy with progressive scoliosis|roundabout, axon guidance receptor, homolog 3 (Drosophila)" "Fibronectin type III domain containing|I-set domain containing" "555|593" 2004-05-10 2015-06-26 2021-05-26 64221 ENSG00000154134 OTTHUMG00000165934 uc001qbc.4 AK024697 NM_022370 CCDS44755 Q96MS0 15105459 MGI:1343102 RGD:1311018 608630 118352 HGNC:13433 "ENST00000397801.6|NM_022370.4" HGNC:13433 +HGNC:17985 ROBO4 roundabout guidance receptor 4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FLJ20798|MRB|ECSM4" magic roundabout "roundabout homolog 4 (Drosophila)|roundabout, axon guidance receptor, homolog 4 (Drosophila)" "Fibronectin type III domain containing|I-set domain containing" "555|593" 2002-01-22 2015-06-26 2021-05-26 54538 ENSG00000154133 OTTHUMG00000165936 uc001qbg.4 AF361473 NM_019055 "CCDS8455|CCDS73409" Q8WZ75 "11076864|16481322" MGI:1921394 RGD:727947 607528 HGNC:17985 "ENST00000306534.8|NM_019055.6" HGNC:17985 +HGNC:10251 ROCK1 Rho associated coiled-coil containing protein kinase 1 protein-coding gene gene with protein product Approved 18q11.1 18q11.1 p160ROCK "Pleckstrin homology domain containing|AGC family kinases" "682|1625" 1997-10-10 2016-01-18 2021-04-13 6093 ENSG00000067900 OTTHUMG00000131723 uc002kte.4 NM_005406 CCDS11870 Q13464 8617235 MGI:107927 RGD:620424 LRG_1005|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1005.xml 601702 objectId:1503 2.7.11.1 HGNC:10251 "ENST00000399799.3|NM_005406.3" +HGNC:37832 ROCK1P1 Rho associated coiled-coil containing protein kinase 1 pseudogene 1 pseudogene pseudogene Approved 18p11.32 18p11.32 2010-03-12 2016-01-18 2016-01-18 727758 ENSG00000263006 OTTHUMG00000177913 NR_033770 PGOHUM00000259265 HGNC:37832 +HGNC:10252 ROCK2 Rho associated coiled-coil containing protein kinase 2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "Pleckstrin homology domain containing|AGC family kinases" "682|1625" 1999-04-23 2016-01-18 2016-10-05 9475 ENSG00000134318 OTTHUMG00000149916 uc002rbd.2 D87931 NM_001321643 CCDS42654 O75116 9933571 MGI:107926 RGD:3590 604002 470990 objectId:1504 2.7.11.1 HGNC:10252 "ENST00000315872.11|NM_004850.5" +HGNC:52946 ROCR regulator of chondrogenesis RNA non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 LINC02095 long intergenic non-protein coding RNA 2095 Long non-coding RNAs with non-systematic symbols 1992 2016-12-20 2017-11-02 2017-11-02 2017-11-02 102723505 ENSG00000228639 OTTHUMG00000132237 NR_110876 29084806 HGNC:52946 +HGNC:29478 ROGDI rogdi atypical leucine zipper protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ22386|ROGD1|RAV2" "rogdi homolog (Drosophila)|rogdi homolog" 2006-03-08 2018-11-09 2021-12-08 79641 ENSG00000067836 OTTHUMG00000129479 uc002cxv.5 AK026039 NM_024589 CCDS10523 Q9GZN7 "22424600|28638151" MGI:1913299 RGD:1560021 LRG_455|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_455.xml 614574 299622 HGNC:29478 "ENST00000322048.12|NM_024589.3" HGNC:29478 +HGNC:10254 ROM1 retinal outer segment membrane protein 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "TSPAN23|ROM" Tetraspanins 768 1990-01-15 2019-08-20 6094 ENSG00000149489 OTTHUMG00000167528 uc058cjh.1 L07894 NM_000327 CCDS8024 Q03395 8504299 MGI:97998 RGD:1306070 Mutations of the Rod Outer Membrane Proteine 1 (ROM1) Gene|http://www.retina-international.org/files/sci-news/rommut.htm 180721 118358 HGNC:10254 "ENST00000278833.4|NM_000327.4" HGNC:10254 +HGNC:16185 ROMO1 reactive oxygen species modulator 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "bA353C18.2|MTGMP" mitochondrial targeting GXXXG protein C20orf52 chromosome 20 open reading frame 52 Tim17 family 1857 2001-07-17 2008-09-30 2008-09-30 2008-09-30 140823 ENSG00000125995 OTTHUMG00000032360 uc010gfm.4 AK000548 NM_080748 CCDS13264 P60602 "18313394|17537404|16842742" MGI:1914317 RGD:1587111 618894 HGNC:16185 "ENST00000374077.8|NM_080748.3" +HGNC:17692 ROPN1 rhophilin associated tail protein 1 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "ODF6|ropporin|ROPN1A|CT91" cancer/testis antigen 91 ropporin, rhophilin associated protein 1 2003-01-21 2011-01-20 2016-10-24 54763 ENSG00000065371 OTTHUMG00000159556 uc062ned.1 AF231410 NM_017578 CCDS3026 Q9HAT0 10591629 MGI:1923628 RGD:1310675 611757 HGNC:17692 "ENST00000405845.8|NM_001317774.2" +HGNC:31927 ROPN1B rhophilin associated tail protein 1B protein-coding gene gene with protein product Approved 3q21.2 03q21.2 ropporin, rhophilin associated protein 1B 2005-03-02 2011-01-20 2015-09-07 152015 ENSG00000114547 OTTHUMG00000162651 uc010hsb.4 AF231410 NM_001012337 CCDS33841 Q9BZX4 MGI:1923628 HGNC:31927 "ENST00000514116.6|NM_001308313.2" +HGNC:24060 ROPN1L rhophilin associated tail protein 1 like protein-coding gene gene with protein product Approved 5p15.2 05p15.2 "ASP|FLJ25776|RSPH11" radial spoke head 11 homolog (Chlamydomonas) "ropporin 1-like|rhophilin associated tail protein 1-like" MicroRNA protein coding host genes 1691 2004-07-05 2016-01-28 2016-10-05 83853 ENSG00000145491 OTTHUMG00000090507 uc021xwo.2 AF239723 NM_031916 CCDS3879 Q96C74 11278869 MGI:2182357 RGD:1591367 611756 HGNC:24060 "ENST00000274134.5|NM_031916.5" +HGNC:39984 ROPN1L-AS1 ROPN1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.2 05p15.2 ROPN1L antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100505845 ENSG00000250600 OTTHUMG00000162052 uc031siw.2 NR_102746 ROPN1L-AS1 HGNC:39984 +HGNC:10256 ROR1 receptor tyrosine kinase like orphan receptor 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 NTRKR1 "Receptor tyrosine kinases|I-set domain containing" "321|593" 2000-02-29 2016-06-28 2016-06-28 4919 ENSG00000185483 OTTHUMG00000009022 uc001dbj.4 M97675 NM_005012 "CCDS626|CCDS41344" Q01973 "1334494|8875995" MGI:1347520 RGD:1559469 602336 objectId:1845 HGNC:10256 "ENST00000371079.6|NM_005012.4" HGNC:10256 +HGNC:40508 ROR1-AS1 ROR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.3 01p31.3 Antisense RNAs 1987 2014-05-21 2019-08-08 101927034 ENSG00000223949 OTTHUMG00000009024 NR_110665 31389604 ROR1-AS1 HGNC:40508 +HGNC:10257 ROR2 receptor tyrosine kinase like orphan receptor 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "NTRKR2|BDB|BDB1" receptor tyrosine kinase-like orphan receptor 2 "Receptor tyrosine kinases|I-set domain containing" "321|593" 2000-02-29 2016-03-29 2021-05-26 4920 ENSG00000169071 OTTHUMG00000020211 uc004arj.3 M97639 NM_001318204 CCDS6691 Q01974 "1334494|10700182" MGI:1347521 RGD:1305275 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ROR2 602337 118362 objectId:1846 HGNC:10257 "ENST00000375708.4|NM_004560.4" HGNC:10257 +HGNC:10258 RORA RAR related orphan receptor A protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "RZRA|ROR1|ROR2|ROR3|NR1F1" RAR-related orphan receptor A RAR related orphan receptors 2082 1995-04-13 2016-01-25 2016-10-05 6095 ENSG00000069667 OTTHUMG00000132769 uc002agx.4 U04897 NM_134261 "CCDS10177|CCDS10178|CCDS10179|CCDS45271" P35398 7926749 MGI:104661 RGD:1308419 600825 470992 objectId:598 HGNC:10258 "ENST00000335670.11|NM_134261.3" HGNC:10258 +HGNC:51410 RORA-AS1 RORA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q22.2 15q22.2 Antisense RNAs 1987 2014-11-21 2014-11-21 101928784 ENSG00000245534 OTTHUMG00000172103 BC035094 NR_120339 RORA-AS1 HGNC:51410 +HGNC:51411 RORA-AS2 RORA antisense RNA 2 non-coding RNA RNA, long non-coding Approved 15q22.2 15q22.2 Antisense RNAs 1987 2014-11-21 2014-11-21 100996876 ENSG00000259482 OTTHUMG00000172106 "DB058680|DB033761" NR_120318 RORA-AS2 HGNC:51411 +HGNC:10259 RORB RAR related orphan receptor B protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "RZRB|NR1F2|ROR-BETA" RAR-related orphan receptor B RAR related orphan receptors 2082 1995-04-13 2016-01-25 2016-10-05 6096 ENSG00000198963 OTTHUMG00000020026 uc004ajh.4 Y08639 NM_001365023 CCDS6646 Q92753 7926749 MGI:1343464 RGD:1306778 601972 470994 objectId:599 HGNC:10259 "ENST00000376896.8|NM_006914.4" HGNC:10259 +HGNC:49803 RORB-AS1 RORB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.13 09q21.13 Antisense RNAs 1987 2014-02-24 2014-02-24 103752585 ENSG00000224825 OTTHUMG00000020025 BI520565 NR_125791 RORB-AS1 HGNC:49803 +HGNC:10260 RORC RAR related orphan receptor C protein-coding gene gene with protein product Approved 1q21 01q21 "RZRG|RORG|NR1F3|TOR" RAR-related orphan receptor C RAR related orphan receptors 2082 1995-04-13 2016-01-25 2021-04-13 6097 ENSG00000143365 OTTHUMG00000013053 uc001ezh.4 U16997 NM_001001523 "CCDS1004|CCDS30856" P51449 7811290 MGI:104856 RGD:1595785 LRG_1322|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1322.xml 602943 470996 objectId:600 HGNC:10260 "ENST00000318247.7|NM_005060.4" HGNC:10260 +HGNC:10261 ROS1 ROS proto-oncogene 1, receptor tyrosine kinase protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "MCF3|ROS|c-ros-1" "v-ros avian UR2 sarcoma virus oncogene homolog 1|v-ros UR2 sarcoma virus oncogene homolog 1 (avian)|c-ros oncogene 1 , receptor tyrosine kinase" "Receptor tyrosine kinases|Fibronectin type III domain containing" "321|555" 1986-01-01 2016-04-06 2021-04-13 6098 ENSG00000047936 OTTHUMG00000016188 uc003pxp.2 M13599 NM_001378891 CCDS5116 P08922 1611909 MGI:97999 RGD:3591 LRG_997|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_997.xml ROS1 165020 objectId:1840 HGNC:10261 "ENST00000368507.8|NM_001378902.1" HGNC:10261 +HGNC:10263 RP1 RP1 axonemal microtubule associated protein-coding gene gene with protein product Approved 8q11.23-q12.1 08q11.23-q12.1 "DCDC4A|ORP1" "doublecortin domain containing 4A|oxygen-regulated protein 1" "retinitis pigmentosa 1 (autosomal dominant)|RP1, axonemal microtubule associated" Doublecortin superfamily 1369 1986-01-01 2019-01-25 2021-05-26 6101 ENSG00000104237 OTTHUMG00000164379 uc003xsd.1 AF146592 NM_006269 CCDS6160 P56715 "1783394|10391211|27260426" MGI:1341105 RGD:1596713 Mutations of the RP1 Gene|http://www.retina-international.org/files/sci-news/rp1mut.htm 603937 118367 HGNC:10263 "ENST00000220676.2|NM_006269.2" HGNC:10263 +HGNC:15946 RP1L1 RP1 like 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 DCDC4B doublecortin domain containing 4B "retinitis pigmentosa 1-like 1|retinitis pigmentosa 1 like 1" Doublecortin superfamily 1369 2001-07-26 2016-12-12 2021-05-26 94137 ENSG00000183638 OTTHUMG00000163806 uc003wtc.4 AY168346 NM_178857 CCDS43708 Q8IWN7 12634863 MGI:2384303 RGD:1586886 608581 251688 HGNC:15946 "ENST00000382483.4|NM_178857.6" HGNC:15946 +HGNC:10274 RP2 RP2 activator of ARL3 GTPase protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "TBCCD2|NME10|NM23-H10" "retinitis pigmentosa 2 (X-linked recessive)|RP2, ARL3 GTPase activating protein" 2001-06-22 2019-01-25 2021-05-26 6102 ENSG00000102218 OTTHUMG00000021430 uc004dgw.5 AJ007590 NM_006915 CCDS14270 O75695 "18376416|6325945|9697692|19852809" MGI:1277953 RGD:1565124 "Mutations of the RP2 Gene|http://www.retina-international.org/files/sci-news/rp2mut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RP2" 300757 118370 HGNC:10274 "ENST00000218340.4|NM_006915.3" HGNC:10274 +HGNC:10288 RP9 RP9 pre-mRNA splicing factor protein-coding gene gene with protein product Approved 7p14.3 07p14.3 PAP-1 Pim-1 kinase associated protein retinitis pigmentosa 9 (autosomal dominant) 1994-04-27 2019-01-21 2019-01-21 6100 ENSG00000164610 OTTHUMG00000152988 uc003tdm.4 AX016710 NM_203288 CCDS5440 Q8TA86 "8513323|15474994" MGI:2157166 RGD:1559759 607331 118373 HGNC:10288 "ENST00000297157.8|NM_203288.2" HGNC:10288 +HGNC:33969 RP9P RP9 pseudogene pseudogene pseudogene Approved 7p14.3 07p14.3 retinitis pigmentosa 9 pseudogene 2008-01-31 2017-07-07 2017-07-07 441212 ENSG00000205763 OTTHUMG00000097855 NR_003500 HGNC:33969 +HGNC:10289 RPA1 replication protein A1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "REPA1|RPA70|HSSB|RF-A|RP-A" "replication protein A1 (70kD)|replication protein A1, 70kDa" Nucleotide excision repair 1269 1993-12-14 2015-11-09 2015-11-09 6117 ENSG00000132383 OTTHUMG00000090579 uc002fto.3 M63488 NM_002945 CCDS11014 P27694 8454588 MGI:1915525 RGD:1307376 179835 HGNC:10289 "ENST00000254719.10|NM_002945.5" +HGNC:10290 RPA2 replication protein A2 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "replication protein A2 (32kD)|replication protein A2, 32kDa" Nucleotide excision repair 1269 1993-12-14 2015-11-09 2016-10-05 6118 ENSG00000117748 OTTHUMG00000003915 uc001bpe.3 BC021257 NM_002946 "CCDS314|CCDS72740" P15927 8454588 MGI:1339939 RGD:619714 179836 HGNC:10290 "ENST00000373912.8|NM_002946.5" +HGNC:19676 RPA2P1 replication protein A2 pseudogene 1 pseudogene pseudogene Approved 14q21.3 14q21.3 RPA2P replication protein A2 pseudogene 2003-01-13 2013-02-15 2013-02-15 2014-11-19 326628 ENSG00000258392 OTTHUMG00000170872 NG_002610 PGOHUM00000248155 HGNC:19676 +HGNC:45117 RPA2P2 replication protein A2 pseudogene 2 pseudogene pseudogene Approved 10q23.1 10q23.1 2013-02-15 2013-02-15 389990 ENSG00000226466 OTTHUMG00000018623 NG_022150 PGOHUM00000238566 HGNC:45117 +HGNC:45118 RPA2P3 replication protein A2 pseudogene 3 pseudogene pseudogene Approved 11q22.1 11q22.1 2013-02-15 2013-02-15 100420359 ENSG00000255547 OTTHUMG00000167592 NG_024553 PGOHUM00000242874 HGNC:45118 +HGNC:10291 RPA3 replication protein A3 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 REPA3 "replication protein A3 (14kD)|replication protein A3, 14kDa" Nucleotide excision repair 1269 1993-12-14 2015-11-09 2015-11-09 6119 ENSG00000106399 OTTHUMG00000023748 uc003sri.4 NM_002947 CCDS5356 P35244 8454588 MGI:1915490 RGD:1306810 179837 HGNC:10291 "ENST00000223129.8|NM_002947.5" +HGNC:54790 RPA3P1 RPA3 pseudogene 1 pseudogene pseudogene Approved 2q31.1 02q31.1 2020-01-08 2020-01-08 442058 ENSG00000179997 NG_030151 +HGNC:54791 RPA3P2 RPA3 pseudogene 2 pseudogene pseudogene Approved 6p12.1 06p12.1 2020-01-08 2020-01-08 100130403 ENSG00000218261 NG_030186 +HGNC:30305 RPA4 replication protein A4 protein-coding gene gene with protein product Approved Xq21.33 Xq21.33 HSU24186 "replication protein A4, 34kDa|replication protein A4, 30kDa" Nucleotide excision repair 1269 2004-08-09 2015-11-09 2020-04-02 29935 ENSG00000204086 OTTHUMG00000021987 uc004efv.5 U24186 NM_013347 CCDS35345 Q13156 7760808 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPA4 300767 HGNC:30305 "ENST00000373040.4|NM_013347.4" +HGNC:28641 RPAIN RPA interacting protein protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "MGC4189|RIP|hRIP" 2006-05-08 2006-05-08 2020-04-02 84268 ENSG00000129197 OTTHUMG00000177872 uc002gbq.3 AY775314 NM_001033002 "CCDS54077|CCDS32536|CCDS54076|CCDS54079|CCDS54075" Q86UA6 "16135809|16008515" MGI:1916973 RGD:1308492 617299 HGNC:28641 "ENST00000381209.8|NM_001033002.4" +HGNC:24567 RPAP1 RNA polymerase II associated protein 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "DKFZP727M111|KIAA1403|MGC858|FLJ12732" 2004-03-16 2016-10-05 26015 ENSG00000103932 OTTHUMG00000130342 uc001zod.5 BC000246 NM_015540 CCDS10079 Q9BWH6 10718198 MGI:1916175 RGD:1590891 611475 HGNC:24567 "ENST00000304330.9|NM_015540.4" +HGNC:25791 RPAP2 RNA polymerase II associated protein 2 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "FLJ13150|Rtr1" C1orf82 chromosome 1 open reading frame 82 2005-05-24 2007-07-26 2007-07-26 2015-08-14 79871 ENSG00000122484 OTTHUMG00000010288 uc001dot.3 AK023212 NM_024813 CCDS740 Q8IXW5 "17643375|22781759" MGI:2141142 RGD:1309034 611476 HGNC:25791 "ENST00000610020.2|NM_024813.3" +HGNC:45125 RPAP2P1 RNA polymerase II associated protein 2 pseudogene 1 pseudogene pseudogene Approved 10q23.2 10q23.2 2013-02-15 2016-08-16 100272220 ENSG00000270874 OTTHUMG00000184745 NG_011757 PGOHUM00000289938 HGNC:45125 +HGNC:26151 RPAP3 RNA polymerase II associated protein 3 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "FLJ21908|spag|hSpagh|Tah1" "Tetratricopeptide repeat domain containing|R2TP complex" "769|1401" 2007-07-26 2018-06-04 79657 ENSG00000005175 OTTHUMG00000169668 uc001rpr.4 AK025561 NM_024604 "CCDS53783|CCDS8753|CCDS53782" Q9H6T3 17643375 MGI:1277218 RGD:1303036 611477 HGNC:26151 "ENST00000005386.8|NM_024604.3" +HGNC:55477 RPAP3-DT RPAP3 divergent transcript non-coding RNA RNA, long non-coding Approved 12q13.11 12q13.11 Divergent transcripts 1990 2021-03-11 2021-03-11 105369748 ENSG00000257433 XR_001749110 +HGNC:10293 RPE ribulose-5-phosphate-3-epimerase protein-coding gene gene with protein product Approved 2q34 02q34 2001-06-22 2016-10-05 6120 ENSG00000197713 OTTHUMG00000154690 uc002vdn.5 NM_006916 "CCDS82568|CCDS2388|CCDS63107|CCDS42810|CCDS82567|CCDS63108" Q96AT9 MGI:1913896 RGD:1564890 180480 5.1.3.1 HGNC:10293 "ENST00000359429.11|NM_199229.3" +HGNC:10294 RPE65 retinoid isomerohydrolase RPE65 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "LCA2|rd12|BCO3" "BCO family, member 3|retinol isomerase|all-trans-retinyl-palmitate hydrolase" RP20 retinal pigment epithelium-specific protein 65kDa 1993-10-04 2019-01-21 2021-05-26 6121 ENSG00000116745 OTTHUMG00000009208 uc001dei.2 U18991 NM_000329 CCDS643 Q16518 "8340400|16116091" MGI:98001 RGD:621396 Mutations of the RPE65 Gene|http://www.retina-international.org/files/sci-news/rpe65mut.htm 180069 118376 3.1.1.64 HGNC:10294 "ENST00000262340.6|NM_000329.3" HGNC:10294 +HGNC:45241 RPEL1 ribulose-5-phosphate-3-epimerase like 1 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 2013-12-20 2016-06-30 2016-06-30 729020 ENSG00000235376 OTTHUMG00000018980 NM_001143909 CCDS65929 Q2QD12 16201836 MGI:1913896 HGNC:45241 "ENST00000441178.2|NM_001143909.1" +HGNC:44520 RPEP1 ribulose-5-phosphate-3-epimerase pseudogene 1 pseudogene pseudogene Approved 5q12.3 05q12.3 2012-11-14 2012-11-14 100420512 ENSG00000250732 OTTHUMG00000162552 NG_024597 PGOHUM00000235243 HGNC:44520 +HGNC:44521 RPEP2 ribulose-5-phosphate-3-epimerase pseudogene 2 pseudogene pseudogene Approved 3p24.2 03p24.2 2012-11-14 2012-11-14 645065 ENSG00000234158 OTTHUMG00000155599 NG_022243 PGOHUM00000237967 HGNC:44521 +HGNC:44522 RPEP3 ribulose-5-phosphate-3-epimerase pseudogene 3 pseudogene pseudogene Approved 1p35.3 01p35.3 2012-11-14 2012-11-14 100420555 ENSG00000230833 OTTHUMG00000003733 NG_027074 PGOHUM00000244652 HGNC:44522 +HGNC:44523 RPEP4 ribulose-5-phosphate-3-epimerase pseudogene 4 pseudogene pseudogene Approved 22q12.2 22q12.2 2012-11-14 2012-11-14 100420665 ENSG00000233010 OTTHUMG00000155625 NG_027475 PGOHUM00000246560 HGNC:44523 +HGNC:44524 RPEP5 ribulose-5-phosphate-3-epimerase pseudogene 5 pseudogene pseudogene Approved 2q24.2 02q24.2 2012-11-14 2012-11-14 106481798 ENSG00000234732 OTTHUMG00000153862 NG_021401 PGOHUM00000240410 HGNC:44524 +HGNC:44525 RPEP6 ribulose-5-phosphate-3-epimerase pseudogene 6 pseudogene pseudogene Approved 11q13.4 11q13.4 2012-11-14 2012-11-14 100420590 ENSG00000257075 OTTHUMG00000167872 NG_032935 PGOHUM00000242788 HGNC:44525 +HGNC:30350 RPF1 ribosome production factor 1 homolog protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "RNA processing factor 1|ribosome production factor 1" BXDC5 "brix domain containing 5|ribosome production factor 1 homolog (S. cerevisiae)" 2005-05-20 2009-09-25 2015-07-22 2015-07-22 80135 ENSG00000117133 OTTHUMG00000009857 uc001djv.5 AF322053 NM_025065 CCDS695 Q9H9Y2 11864606 MGI:1917535 RGD:1559755 HGNC:30350 "ENST00000370654.6|NM_025065.7" +HGNC:20870 RPF2 ribosome production factor 2 homolog protein-coding gene gene with protein product Approved 6q21 06q21 "FLJ21087|bA397G5.4" ribosomal processing factor 2 homolog (S. cerevisiae) BXDC1 "brix domain containing 1|ribosome production factor 2 homolog (S. cerevisiae)" 2003-04-16 2009-09-25 2015-07-22 2015-08-25 84154 ENSG00000197498 OTTHUMG00000015368 uc003pun.5 AK024740 NM_032194 CCDS5088 Q9H7B2 12048200 MGI:1914489 RGD:1306906 618471 HGNC:20870 "ENST00000441448.7|NM_032194.3" +HGNC:16186 RPF2P1 ribosome production factor 2 homolog pseudogene 1 pseudogene pseudogene Approved 20q11.22 20q11.22 bA353C18.4 "C20orf53|BXDC1P|RPF2P" "chromosome 20 open reading frame 53|brix domain containing 1 pseudogene|ribosome production factor 2 pseudogene|ribosome production factor 2 homolog (S. cerevisiae) pseudogene 1" 2001-07-17 2012-05-28 2015-07-22 2015-07-22 729608 ENSG00000225357 OTTHUMG00000032362 AL357374 NG_009525 PGOHUM00000247649 HGNC:16186 +HGNC:44015 RPF2P2 ribosome production factor 2 homolog pseudogene 2 pseudogene pseudogene Approved 4q26 04q26 ribosome production factor 2 homolog (S. cerevisiae) pseudogene 2 2012-05-28 2015-07-22 2015-07-22 100128462 ENSG00000250693 OTTHUMG00000161072 NG_022073 PGOHUM00000246042 HGNC:44015 +HGNC:10295 RPGR retinitis pigmentosa GTPase regulator protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 CORDX1 "CRD|RP3|RP15|COD1" "retinitis pigmentosa 15|cone dystrophy 1 (X-linked)" 1999-04-29 2004-02-13 2021-05-26 6103 ENSG00000156313 OTTHUMG00000021361 uc004deb.4 U57629 NM_000328 "CCDS14246|CCDS35229" Q92834 "8673101|8817343" MGI:1344037 RGD:1560136 "Mutations of the Retinitis Pigmentosa GTPase Regulator (RPGR) Gene|http://www.retina-international.org/files/sci-news/rpgrmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPGR|LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=RPGR" 312610 118381 HGNC:10295 "ENST00000642395.2|NM_000328.3" HGNC:10295 +HGNC:13436 RPGRIP1 RPGR interacting protein 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "RGI1|LCA6|CORD13" RPGRIP retinitis pigmentosa GTPase regulator interacting protein 1 C2 domain containing 823 2000-12-20 2017-07-28 2021-05-26 57096 ENSG00000092200 OTTHUMG00000170758 uc001wag.4 AF227257 NM_020366 CCDS45080 Q96KN7 "10958647|10958648" MGI:1932134 RGD:1310807 Mutations of the Retinitis Pigmentosa GTPase Regulator Interacting Protein Gene|http://www.retina-international.org/sci-news/databases/mutation-database/rpgrip1-mutation/ 605446 118388 HGNC:13436 "ENST00000400017.7|NM_020366.4" HGNC:13436 +HGNC:29168 RPGRIP1L RPGRIP1 like protein-coding gene gene with protein product Approved 16q12.2 16q12.2 "KIAA1005|CORS3|JBTS7|MKS5|NPHP8|FTM|PPP1R134" "fantom homolog|Meckel syndrome, type 5|protein phosphatase 1, regulatory subunit 134" RPGRIP1-like "Protein phosphatase 1 regulatory subunits|C2 domain containing" "694|823" 2007-05-14 2016-05-10 2021-04-13 23322 ENSG00000103494 OTTHUMG00000173125 uc002eho.5 NM_015272 "CCDS81980|CCDS86527|CCDS76868|CCDS45486|CCDS32447|CCDS86526" Q68CZ1 10231032 MGI:1920563 RGD:1311099 LRG_696|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_696.xml 610937 140541 HGNC:29168 "ENST00000647211.2|NM_015272.5" HGNC:29168 +HGNC:17056 RPH3A rabphilin 3A protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "KIAA0985|rabphilin|exophilin-1" rabphilin 3A homolog (mouse) Synaptotagmin like tandem C2 proteins 822 2003-12-10 2014-07-02 2015-09-07 22895 ENSG00000089169 OTTHUMG00000169713 uc058tlu.1 AB023202 NM_014954 "CCDS31904|CCDS44979" Q9Y2J0 "10231032|7822236" MGI:102788 RGD:620073 612159 HGNC:17056 "ENST00000389385.9|NM_001143854.2" HGNC:17056 +HGNC:10296 RPH3AL rabphilin 3A like (without C2 domains) protein-coding gene gene with protein product Approved 17p13.3 17p13.3 Noc2 No C2 domains protein 1999-04-14 2017-02-21 2018-03-02 9501 ENSG00000181031 OTTHUMG00000090273 uc021tmx.1 NM_006987 "CCDS54059|CCDS10994" Q9UNE2 10395805 MGI:1923492 RGD:620342 604881 HGNC:10296 "ENST00000331302.12|NM_006987.4" +HGNC:55345 RPH3AL-AS1 RPH3AL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 Antisense RNAs 1987 2020-11-04 2020-11-04 100506388 ENSG00000262061 NR_040011 +HGNC:56089 RPH3AL-AS2 RPH3AL antisense RNA 2 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 Antisense RNAs 1987 2021-12-20 2021-12-20 123706508 ENSG00000262294 +HGNC:10297 RPIA ribose 5-phosphate isomerase A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 ribose 5-phosphate epimerase 1999-09-30 2008-07-31 2021-05-26 22934 ENSG00000153574 OTTHUMG00000130333 uc002ste.4 L35035 NM_144563 CCDS2004 P49247 7758956 MGI:103254 RGD:1311377 180430 444921 5.3.1.6 HGNC:10297 "ENST00000283646.5|NM_144563.3" HGNC:10297 +HGNC:27250 RPIAP1 ribose 5-phosphate isomerase A pseudogene 1 pseudogene pseudogene Approved 18q21.33 18q21.33 2005-10-06 2014-11-19 619449 ENSG00000267597 OTTHUMG00000180097 NG_023037 PGOHUM00000234947 HGNC:27250 +HGNC:10332 RPL3 ribosomal protein L3 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 L3 "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1990-07-03 2016-10-05 6122 ENSG00000100316 OTTHUMG00000151079 uc003axi.4 AB007166 NM_000967 CCDS13988 P39023 "2891103|9582194" MGI:1351605 RGD:735105 604163 HGNC:10332 "ENST00000216146.9|NM_000967.4" +HGNC:10351 RPL3L ribosomal protein L3 like protein-coding gene gene with protein product Approved 16p13.3 16p13.3 ribosomal protein L3-like L ribosomal proteins 729 1996-10-18 2015-11-17 2015-11-17 6123 ENSG00000140986 OTTHUMG00000128685 uc002cnh.4 U65581 NM_005061 CCDS10450 Q92901 8921388 MGI:1913461 RGD:1306315 617416 HGNC:10351 "ENST00000268661.8|NM_005061.3" HGNC:10351 +HGNC:10352 RPL3P1 ribosomal protein L3 pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 RPL3P ribosomal protein L3 pseudogene 2009-03-01 2001-12-14 2001-12-07 2016-10-05 8488 ENSG00000228149 OTTHUMG00000086610 NG_000877 "9740676|19123937" PGOHUM00000239076 HGNC:10352 +HGNC:17834 RPL3P2 ribosomal protein L3 pseudogene 2 pseudogene pseudogene Approved 6p21.33 06p21.33 RPL3-Hom 2009-03-01 2014-11-18 116935 ENSG00000227939 OTTHUMG00000031035 D83770 NG_002397 "9177776|19123937" PGOHUM00000243581 HGNC:17834 +HGNC:23550 RPL3P3 ribosomal protein L3 pseudogene 3 pseudogene pseudogene Approved 14q22.3 14q22.3 2009-03-01 2014-11-18 645798 ENSG00000243388 OTTHUMG00000157922 AL137100 NG_009544 19123937 PGOHUM00000248181 HGNC:23550 +HGNC:19805 RPL3P4 ribosomal protein L3 pseudogene 4 pseudogene pseudogene Approved 14q32.2 14q32.2 2003-01-13 2011-03-17 326307 ENSG00000232573 OTTHUMG00000028964 NG_002559 PGOHUM00000247890 HGNC:19805 +HGNC:36934 RPL3P5 ribosomal protein L3 pseudogene 5 pseudogene pseudogene Approved 2q37.3 02q37.3 2009-03-06 2011-03-17 100130450 ENSG00000231546 OTTHUMG00000153071 NG_010767 19123937 PGOHUM00000240567 HGNC:36934 +HGNC:36395 RPL3P6 ribosomal protein L3 pseudogene 6 pseudogene pseudogene Approved 5q12.1 05q12.1 2009-03-06 2011-03-17 643220 ENSG00000213891 OTTHUMG00000157703 NG_010781 19123937 PGOHUM00000235237 HGNC:36395 +HGNC:36797 RPL3P7 ribosomal protein L3 pseudogene 7 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2012-11-05 642741 ENSG00000225093 OTTHUMG00000015318 NG_010941 19123937 PGOHUM00000243316 HGNC:36797 +HGNC:35498 RPL3P8 ribosomal protein L3 pseudogene 8 pseudogene pseudogene Approved 7q31.1 07q31.1 2009-03-06 2012-11-05 646620 ENSG00000232199 OTTHUMG00000155017 NG_009422 19123937 PGOHUM00000232961 HGNC:35498 +HGNC:36839 RPL3P9 ribosomal protein L3 pseudogene 9 pseudogene pseudogene Approved 8q21.13 08q21.13 2009-03-06 2012-11-05 100128963 ENSG00000240540 OTTHUMG00000158635 NG_011010 19123937 PGOHUM00000249399 HGNC:36839 +HGNC:36819 RPL3P10 ribosomal protein L3 pseudogene 10 pseudogene pseudogene Approved 8p11.22 08p11.22 2009-03-06 2016-10-05 100129004 ENSG00000243095 OTTHUMG00000158606 NG_011223 19123937 PGOHUM00000249302 HGNC:36819 +HGNC:35521 RPL3P11 ribosomal protein L3 pseudogene 11 pseudogene pseudogene Approved 9p23 09p23 2009-03-06 2012-11-05 100131893 ENSG00000223568 OTTHUMG00000019567 NG_010281 19123937 PGOHUM00000235967 HGNC:35521 +HGNC:36298 RPL3P12 ribosomal protein L3 pseudogene 12 pseudogene pseudogene Approved Xq25 Xq25 2009-03-06 2011-01-17 100131358 ENSG00000232496 OTTHUMG00000022325 NG_010160 19123937 PGOHUM00000241987 HGNC:36298 +HGNC:48494 RPL3P13 ribosomal protein L3 pseudogene 13 pseudogene pseudogene Approved 4q21.23 04q21.23 2013-05-15 2013-05-15 106480199 ENSG00000258013 OTTHUMG00000170561 NG_043489 PGOHUM00000259907 HGNC:48494 +HGNC:10353 RPL4 ribosomal protein L4 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 L4 60S ribosomal protein L4 "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1994-05-16 2016-10-05 6124 ENSG00000174444 OTTHUMG00000133193 uc002apv.4 AB007167 NM_000968 CCDS10218 P36578 "9582194|8268230" MGI:1915141 RGD:619824 180479 HGNC:10353 "ENST00000307961.11|NM_000968.4" +HGNC:23551 RPL4P1 ribosomal protein L4 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 2009-03-01 2014-11-19 650808 ENSG00000240954 OTTHUMG00000157660 AE000659 NG_001332 19123937 PGOHUM00000248054 HGNC:23551 +HGNC:36836 RPL4P2 ribosomal protein L4 pseudogene 2 pseudogene pseudogene Approved 1q24.1 01q24.1 2009-03-06 2012-11-05 646688 ENSG00000232341 OTTHUMG00000034324 NG_010174 19123937 PGOHUM00000245066 HGNC:36836 +HGNC:35773 RPL4P3 ribosomal protein L4 pseudogene 3 pseudogene pseudogene Approved 1q24.3 01q24.3 2009-03-06 2012-11-05 391135 ENSG00000230364 OTTHUMG00000034790 NG_011155 19123937 PGOHUM00000244334 HGNC:35773 +HGNC:36179 RPL4P4 ribosomal protein L4 pseudogene 4 pseudogene pseudogene Approved 3q27.2 03q27.2 2009-03-06 2012-11-05 647276 ENSG00000229638 OTTHUMG00000156700 NG_010560 19123937 PGOHUM00000237897 HGNC:36179 +HGNC:35699 RPL4P5 ribosomal protein L4 pseudogene 5 pseudogene pseudogene Approved 9p24.1 09p24.1 2009-03-06 2012-11-05 158345 ENSG00000230207 OTTHUMG00000019537 NG_010714 19123937 PGOHUM00000235960 HGNC:35699 +HGNC:35611 RPL4P6 ribosomal protein L4 pseudogene 6 pseudogene pseudogene Approved 22q13.1 22q13.1 2009-03-06 2016-10-05 100271033 ENSG00000230071 OTTHUMG00000151142 NG_010955 19123937 PGOHUM00000263073 HGNC:35611 +HGNC:54598 RPL4P7 ribosomal protein L4 pseudogene 7 pseudogene pseudogene Approved 2q33.1 02q33.1 2019-10-16 2019-10-16 100419110 ENSG00000224442 NG_023650 +HGNC:10360 RPL5 ribosomal protein L5 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "L5|PPP1R135|uL18" protein phosphatase 1, regulatory subunit 135 "Protein phosphatase 1 regulatory subunits|L ribosomal proteins|Small nucleolar RNA protein coding host genes" "694|729|1835" 1995-09-08 2021-05-26 6125 ENSG00000122406 OTTHUMG00000010899 uc001doz.4 U14966 NM_000969 CCDS741 P46777 "7937132|7772601" MGI:102854 RGD:619825 "Diamond-Blackfan Anemia|http://www.dbagenes.unito.it/home.php?select_db=RPL5|LRG_1155|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1155.xml" RPL5 603634 171052 HGNC:10360 "ENST00000370321.8|NM_000969.5" HGNC:10360 +HGNC:10361 RPL5P1 ribosomal protein L5 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 2009-03-01 2014-11-19 647436 ENSG00000241061 OTTHUMG00000157866 NG_009523 19123937 PGOHUM00000246676 HGNC:10361 +HGNC:16568 RPL5P2 ribosomal protein L5 pseudogene 2 pseudogene pseudogene Approved 20q13.12 20q13.12 dJ461P17.5 2009-03-01 2014-11-19 140749 ENSG00000237068 OTTHUMG00000032583 NG_000992 19123937 PGOHUM00000247544 HGNC:16568 +HGNC:31034 RPL5P3 ribosomal protein L5 pseudogene 3 pseudogene pseudogene Approved 15q23 15q23 HsT18216 2009-03-01 2014-11-18 400385 ENSG00000242276 OTTHUMG00000157991 AC013752 NG_009504 19123937 PGOHUM00000246835 HGNC:31034 +HGNC:36095 RPL5P4 ribosomal protein L5 pseudogene 4 pseudogene pseudogene Approved 1p34.3 01p34.3 2009-03-06 2013-05-20 643343 ENSG00000229994 OTTHUMG00000004240 NG_009571 19123937 PGOHUM00000244669 HGNC:36095 +HGNC:35564 RPL5P5 ribosomal protein L5 pseudogene 5 pseudogene pseudogene Approved 1q25.3 01q25.3 2009-03-06 2013-05-20 730213 ENSG00000213051 OTTHUMG00000035382 NG_009600 19123937 PGOHUM00000244368 HGNC:35564 +HGNC:35890 RPL5P6 ribosomal protein L5 pseudogene 6 pseudogene pseudogene Approved 1p22.2 01p22.2 2009-03-06 2013-05-20 646784 ENSG00000232393 OTTHUMG00000010077 NG_010665 19123937 PGOHUM00000244790 HGNC:35890 +HGNC:36583 RPL5P7 ribosomal protein L5 pseudogene 7 pseudogene pseudogene Approved 2q31.1 02q31.1 2009-03-06 2014-11-19 344178 ENSG00000234415 OTTHUMG00000154133 NG_010588 19123937 PGOHUM00000240433 HGNC:36583 +HGNC:36290 RPL5P8 ribosomal protein L5 pseudogene 8 pseudogene pseudogene Approved 2q34 02q34 2009-03-06 2013-05-20 100130523 ENSG00000213917 OTTHUMG00000154848 NG_011133 19123937 PGOHUM00000240515 HGNC:36290 +HGNC:36557 RPL5P9 ribosomal protein L5 pseudogene 9 pseudogene pseudogene Approved 2q13 02q13 2009-03-06 2013-05-20 100270832 ENSG00000236330 OTTHUMG00000153639 NG_011239 19123937 PGOHUM00000240859 HGNC:36557 +HGNC:36846 RPL5P10 ribosomal protein L5 pseudogene 10 pseudogene pseudogene Approved 3p22.1 03p22.1 2009-03-06 2013-05-20 645807 ENSG00000234067 OTTHUMG00000156008 NG_009583 19123937 PGOHUM00000237595 HGNC:36846 +HGNC:35483 RPL5P11 ribosomal protein L5 pseudogene 11 pseudogene pseudogene Approved 4q34.1 04q34.1 2009-03-06 2013-05-20 402193 ENSG00000242882 OTTHUMG00000157603 NG_010069 19123937 PGOHUM00000245772 HGNC:35483 +HGNC:36221 RPL5P12 ribosomal protein L5 pseudogene 12 pseudogene pseudogene Approved 4q23 04q23 2009-03-06 2013-05-20 100270833 ENSG00000242697 OTTHUMG00000157528 NG_011243 19123937 PGOHUM00000246006 HGNC:36221 +HGNC:37023 RPL5P13 ribosomal protein L5 pseudogene 13 pseudogene pseudogene Approved 4q31.21 04q31.21 2009-03-06 2014-11-18 100270834 ENSG00000242134 OTTHUMG00000157573 NG_011247 19123937 HGNC:37023 +HGNC:35924 RPL5P14 ribosomal protein L5 pseudogene 14 pseudogene pseudogene Approved 5p13.3 05p13.3 2009-03-06 2016-10-25 100270835 ENSG00000243914 OTTHUMG00000157661 NG_011256 19123937 PGOHUM00000300911 HGNC:35924 +HGNC:36769 RPL5P15 ribosomal protein L5 pseudogene 15 pseudogene pseudogene Approved 5q11.2 05q11.2 2009-03-06 2013-05-20 100270836 ENSG00000240412 OTTHUMG00000157698 NG_011262 19123937 PGOHUM00000235600 HGNC:36769 +HGNC:36009 RPL5P16 ribosomal protein L5 pseudogene 16 pseudogene pseudogene Approved 5q14.2 05q14.2 2009-03-06 2013-05-20 100270837 ENSG00000240411 OTTHUMG00000157791 NG_011269 19123937 PGOHUM00000235678 HGNC:36009 +HGNC:36605 RPL5P17 ribosomal protein L5 pseudogene 17 pseudogene pseudogene Approved 5q14.3 05q14.3 2009-03-06 2013-05-20 100270839 ENSG00000243859 OTTHUMG00000157794 NG_011278 19123937 PGOHUM00000235683 HGNC:36605 +HGNC:36640 RPL5P18 ribosomal protein L5 pseudogene 18 pseudogene pseudogene Approved 6q22.33 06q22.33 2009-03-06 2013-05-20 389428 ENSG00000220744 OTTHUMG00000015525 NG_010276 19123937 PGOHUM00000243769 HGNC:36640 +HGNC:36604 RPL5P19 ribosomal protein L5 pseudogene 19 pseudogene pseudogene Approved 6q15 06q15 2009-03-06 2013-05-20 100270906 ENSG00000220553 OTTHUMG00000015223 NG_010305 19123937 PGOHUM00000243713 HGNC:36604 +HGNC:36660 RPL5P20 ribosomal protein L5 pseudogene 20 pseudogene pseudogene Approved 6p22.3 06p22.3 2009-03-06 2013-05-20 100131913 ENSG00000218643 OTTHUMG00000014326 NG_010394 19123937 PGOHUM00000243499 HGNC:36660 +HGNC:37029 RPL5P21 ribosomal protein L5 pseudogene 21 pseudogene pseudogene Approved 6q22.33 06q22.33 2009-03-06 2013-05-20 100270838 ENSG00000218689 OTTHUMG00000015549 NG_011273 19123937 PGOHUM00000243361 HGNC:37029 +HGNC:35695 RPL5P22 ribosomal protein L5 pseudogene 22 pseudogene pseudogene Approved 8p21.1 08p21.1 2009-03-06 2013-05-20 389644 ENSG00000239198 OTTHUMG00000158585 NG_011351 19123937 PGOHUM00000249602 HGNC:35695 +HGNC:36553 RPL5P23 ribosomal protein L5 pseudogene 23 pseudogene pseudogene Approved 8p11.21 08p11.21 2009-03-06 2013-05-20 100270840 ENSG00000240395 OTTHUMG00000158609 NG_011285 19123937 PGOHUM00000249307 HGNC:36553 +HGNC:35828 RPL5P24 ribosomal protein L5 pseudogene 24 pseudogene pseudogene Approved 8q22.3 08q22.3 2009-03-06 2013-05-20 100270841 ENSG00000244052 OTTHUMG00000158676 NG_011288 19123937 PGOHUM00000249467 HGNC:35828 +HGNC:35493 RPL5P25 ribosomal protein L5 pseudogene 25 pseudogene pseudogene Approved 10p13 10p13 2009-03-06 2013-05-20 100271204 ENSG00000225251 OTTHUMG00000017691 NG_010517 19123937 PGOHUM00000238350 HGNC:35493 +HGNC:36247 RPL5P26 ribosomal protein L5 pseudogene 26 pseudogene pseudogene Approved 10q22.1 10q22.1 2009-03-06 2013-05-20 100271206 ENSG00000230469 OTTHUMG00000018392 NG_010525 19123937 PGOHUM00000238831 HGNC:36247 +HGNC:36172 RPL5P27 ribosomal protein L5 pseudogene 27 pseudogene pseudogene Approved 10q25.3 10q25.3 2009-03-06 2013-05-20 100129998 ENSG00000228195 OTTHUMG00000019108 NG_011070 19123937 PGOHUM00000238934 HGNC:36172 +HGNC:36827 RPL5P28 ribosomal protein L5 pseudogene 28 pseudogene pseudogene Approved 10q26.3 10q26.3 2009-03-06 2013-05-20 100131535 ENSG00000235264 OTTHUMG00000019305 NG_011076 19123937 PGOHUM00000238654 HGNC:36827 +HGNC:36335 RPL5P29 ribosomal protein L5 pseudogene 29 pseudogene pseudogene Approved 11q12.1 11q12.1 2009-03-06 2013-05-20 390158 ENSG00000242208 OTTHUMG00000158391 NG_010050 19123937 PGOHUM00000242725 HGNC:36335 +HGNC:35837 RPL5P30 ribosomal protein L5 pseudogene 30 pseudogene pseudogene Approved 11q23.3 11q23.3 2009-03-06 2013-05-20 645160 ENSG00000243431 OTTHUMG00000158472 NG_011357 19123937 PGOHUM00000242906 HGNC:35837 +HGNC:42036 RPL5P31 ribosomal protein L5 pseudogene 31 pseudogene pseudogene Approved 13q14.3 13q14.3 2011-06-01 2011-06-01 341674 ENSG00000214878 OTTHUMG00000016941 NG_009871 PGOHUM00000248400 HGNC:42036 +HGNC:36973 RPL5P32 ribosomal protein L5 pseudogene 32 pseudogene pseudogene Approved 15q13.1 15q13.1 2009-03-06 2012-03-07 100271207 ENSG00000228992 OTTHUMG00000128936 NG_010532 19123937 PGOHUM00000247017 HGNC:36973 +HGNC:36703 RPL5P33 ribosomal protein L5 pseudogene 33 pseudogene pseudogene Approved 17q21.33 17q21.33 2009-03-06 2013-05-20 100130929 ENSG00000243521 OTTHUMG00000157880 NG_010584 19123937 PGOHUM00000237433 HGNC:36703 +HGNC:36463 RPL5P34 ribosomal protein L5 pseudogene 34 pseudogene pseudogene Approved 22q13.2 22q13.2 2009-03-06 2013-05-20 388907 ENSG00000234009 OTTHUMG00000150746 NG_010237 19123937 PGOHUM00000246346 HGNC:36463 +HGNC:36967 RPL5P35 ribosomal protein L5 pseudogene 35 pseudogene pseudogene Approved 22q13.33 22q13.33 2009-03-06 2013-05-20 100129647 ENSG00000214727 OTTHUMG00000150295 NG_010574 19123937 PGOHUM00000246355 HGNC:36967 +HGNC:10362 RPL6 ribosomal protein L6 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "TAXREB107|L6" TXREB1 L ribosomal proteins 729 1993-06-15 2021-09-30 6128 ENSG00000089009 OTTHUMG00000169685 uc001ttv.4 X69391 NM_000970 CCDS9162 Q02878 "8479925|8457378" MGI:108057 RGD:619826 603703 HGNC:10362 "ENST00000202773.14|NM_000970.6" +HGNC:35972 RPL6P1 ribosomal protein L6 pseudogene 1 pseudogene pseudogene Approved 1p34.1 01p34.1 2009-03-06 2021-09-30 440587 ENSG00000236111 NG_010027 19123937 PGOHUM00000296310 HGNC:35972 +HGNC:35964 RPL6P2 ribosomal protein L6 pseudogene 2 pseudogene pseudogene Approved 1p12 01p12 2009-03-06 2013-12-10 343495 ENSG00000227056 OTTHUMG00000012344 NG_011031 19123937 PGOHUM00000244164 HGNC:35964 +HGNC:35925 RPL6P3 ribosomal protein L6 pseudogene 3 pseudogene pseudogene Approved 1q43 01q43 2009-03-06 2021-09-30 391181 ENSG00000229022 NG_010044 19123937 PGOHUM00000296836 HGNC:35925 +HGNC:36344 RPL6P4 ribosomal protein L6 pseudogene 4 pseudogene pseudogene Approved 2p25.1 02p25.1 2009-03-06 2019-11-08 645054 ENSG00000226080 NG_010981 19123937 HGNC:36344 +HGNC:36199 RPL6P5 ribosomal protein L6 pseudogene 5 pseudogene pseudogene Approved 2q22.3 02q22.3 2009-03-06 2013-09-24 100270844 ENSG00000214064 OTTHUMG00000153705 NG_011303 19123937 PGOHUM00000240972 HGNC:36199 +HGNC:36673 RPL6P6 ribosomal protein L6 pseudogene 6 pseudogene pseudogene Approved 2q34 02q34 2009-03-06 2019-11-21 100270845 ENSG00000231063 NG_011311 19123937 HGNC:36673 +HGNC:35801 RPL6P7 ribosomal protein L6 pseudogene 7 pseudogene pseudogene Approved 3q25.31 03q25.31 2009-03-06 2011-07-27 100270848 ENSG00000239212 OTTHUMG00000157419 NG_009953 19123937 PGOHUM00000238238 HGNC:35801 +HGNC:37044 RPL6P8 ribosomal protein L6 pseudogene 8 pseudogene pseudogene Approved 3q25.33 03q25.33 2009-03-06 2011-07-07 100133100 ENSG00000242285 OTTHUMG00000157340 NG_011224 19123937 PGOHUM00000238249 HGNC:37044 +HGNC:36484 RPL6P9 ribosomal protein L6 pseudogene 9 pseudogene pseudogene Approved 3q23 03q23 2009-03-06 2013-07-31 100270847 ENSG00000242390 OTTHUMG00000157389 NG_011322 19123937 PGOHUM00000238219 HGNC:36484 +HGNC:36575 RPL6P10 ribosomal protein L6 pseudogene 10 pseudogene pseudogene Approved 4q13.2 04q13.2 2009-03-06 2021-09-30 642828 ENSG00000243199 NG_010033 19123937 PGOHUM00000300230 HGNC:36575 +HGNC:55893 RPL6P11 ribosomal protein L6 pseudogene 11 pseudogene pseudogene Approved 4q32.1 04q32.1 2021-09-30 2021-09-30 100132922 ENSG00000250475 NG_009907 PGOHUM00000300051 +HGNC:35681 RPL6P12 ribosomal protein L6 pseudogene 12 pseudogene pseudogene Approved 4q32.3 04q32.3 2009-03-06 2017-10-30 100270907 ENSG00000214671 OTTHUMG00000157602 NG_010311 19123937 PGOHUM00000300439 HGNC:35681 +HGNC:36399 RPL6P13 ribosomal protein L6 pseudogene 13 pseudogene pseudogene Approved 4q21.3 04q21.3 2009-03-06 2021-09-30 643974 ENSG00000243312 NG_010698 19123937 PGOHUM00000300284 HGNC:36399 +HGNC:35661 RPL6P14 ribosomal protein L6 pseudogene 14 pseudogene pseudogene Approved 4q24 04q24 2009-03-06 2021-09-30 391679 ENSG00000244470 NG_011328 19123937 PGOHUM00000299939 HGNC:35661 +HGNC:36903 RPL6P15 ribosomal protein L6 pseudogene 15 pseudogene pseudogene Approved 5q31.1 05q31.1 2009-03-06 2021-09-30 100270843 ENSG00000240611 NG_011297 19123937 PGOHUM00000300757 HGNC:36903 +HGNC:35674 RPL6P16 ribosomal protein L6 pseudogene 16 pseudogene pseudogene Approved 4q35.1 04q35.1 2009-03-06 2021-09-30 728365 ENSG00000240159 NG_011360 19123937 PGOHUM00000300457 HGNC:35674 +HGNC:36914 RPL6P17 ribosomal protein L6 pseudogene 17 pseudogene pseudogene Approved 6p23 06p23 2009-03-06 2021-09-30 100131229 ENSG00000216754 NG_010828 19123937 PGOHUM00000301256 HGNC:36914 +HGNC:36911 RPL6P18 ribosomal protein L6 pseudogene 18 pseudogene pseudogene Approved 6p22.3 06p22.3 2009-03-06 2021-09-30 100131805 ENSG00000218476 NG_011144 19123937 PGOHUM00000301674 HGNC:36911 +HGNC:36754 RPL6P19 ribosomal protein L6 pseudogene 19 pseudogene pseudogene Approved 7q33 07q33 2009-03-06 2021-09-30 646483 ENSG00000230383 NG_010443 19123937 PGOHUM00000302950 HGNC:36754 +HGNC:36543 RPL6P20 ribosomal protein L6 pseudogene 20 pseudogene pseudogene Approved 7q11.21 07q11.21 2009-03-06 2021-09-30 285900 ENSG00000236976 NG_006618 19123937 PGOHUM00000302246 HGNC:36543 +HGNC:35994 RPL6P21 ribosomal protein L6 pseudogene 21 pseudogene pseudogene Approved 7p21.2 07p21.2 2009-03-06 2013-09-24 100270846 ENSG00000223445 OTTHUMG00000152410 NG_011317 19123937 PGOHUM00000232596 HGNC:35994 +HGNC:36220 RPL6P22 ribosomal protein L6 pseudogene 22 pseudogene pseudogene Approved 8p12 08p12 2009-03-06 2021-09-30 388460 ENSG00000240738 NG_010561 19123937 PGOHUM00000303155 HGNC:36220 +HGNC:55892 RPL6P23 ribosomal protein L6 pseudogene 23 pseudogene pseudogene Approved 8q22.1 08q22.1 2021-09-30 2021-09-30 100130524 ENSG00000249510 NG_009920 PGOHUM00000303308 +HGNC:36343 RPL6P24 ribosomal protein L6 pseudogene 24 pseudogene pseudogene Approved 10p13 10p13 2009-03-06 2016-08-16 100271034 ENSG00000227474 OTTHUMG00000017700 NG_010958 19123937 PGOHUM00000289748 HGNC:36343 +HGNC:36840 RPL6P25 ribosomal protein L6 pseudogene 25 pseudogene pseudogene Approved 12q21.31 12q21.31 2009-03-06 2017-10-30 401725 ENSG00000213270 OTTHUMG00000157640 NG_010323 19123937 PGOHUM00000291750 HGNC:36840 +HGNC:36152 RPL6P26 ribosomal protein L6 pseudogene 26 pseudogene pseudogene Approved 17q21.31 17q21.31 2009-03-06 2021-09-30 100271035 ENSG00000240305 NG_010962 19123937 PGOHUM00000294126 HGNC:36152 +HGNC:36133 RPL6P27 ribosomal protein L6 pseudogene 27 pseudogene pseudogene Approved 18p11.31 18p11.31 2009-03-06 2017-10-30 645387 ENSG00000235552 OTTHUMG00000158161 NG_009652 19123937 PGOHUM00000294576 HGNC:36133 +HGNC:36065 RPL6P28 ribosomal protein L6 pseudogene 28 pseudogene pseudogene Approved 22q13.31 22q13.31 2009-03-06 2021-09-30 100271208 ENSG00000223730 NG_010536 19123937 PGOHUM00000297780 HGNC:36065 +HGNC:36382 RPL6P29 ribosomal protein L6 pseudogene 29 pseudogene pseudogene Approved Xq21.33 Xq21.33 2009-03-06 2011-01-17 392505 ENSG00000236243 OTTHUMG00000021993 NG_010304 19123937 PGOHUM00000241902 HGNC:36382 +HGNC:36171 RPL6P30 ribosomal protein L6 pseudogene 30 pseudogene pseudogene Approved Xp22.2 Xp22.2 2009-03-06 2011-01-17 139452 ENSG00000215313 OTTHUMG00000021190 NG_010970 19123937 PGOHUM00000241198 HGNC:36171 +HGNC:55890 RPL6P31 ribosomal protein L6 pseudogene 31 pseudogene pseudogene Approved 1q21.2 01q21.2 2021-09-30 2021-09-30 441907 ENSG00000223945 NG_022807 PGOHUM00000296568 +HGNC:55891 RPL6P32 ribosomal protein L6 pseudogene 32 pseudogene pseudogene Approved 5q33.2 05q33.2 2021-09-30 2021-09-30 2021-09-30 100131520 ENSG00000253646 NG_021867 PGOHUM00000300797 +HGNC:10363 RPL7 ribosomal protein L7 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 "humL7-1|L7" L ribosomal proteins 729 1998-08-14 2016-10-05 6129 ENSG00000147604 OTTHUMG00000134312 uc064nrp.1 L16557 NM_000971 "CCDS87615|CCDS6212" P18124 "8360149|8441630" MGI:98073 RGD:735169 604166 HGNC:10363 "ENST00000352983.7|NM_000971.4" +HGNC:10364 RPL7A ribosomal protein L7a protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "SURF3|TRUP|L7A" "surfeit 3|PLA-X polypeptide|surfeit locus protein 3|60S ribosomal protein L7a|thyroid hormone receptor uncoupling protein" "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1989-11-29 2022-02-08 6130 ENSG00000148303 OTTHUMG00000020864 uc004cde.2 BC005128 NM_000972 CCDS6965 P62424 "2403926|2966065" MGI:1353472 RGD:1307586 185640 HGNC:10364 "ENST00000323345.11|NM_000972.3" +HGNC:23552 RPL7AP2 ribosomal protein L7a pseudogene 2 pseudogene pseudogene Approved 14q21.1 14q21.1 2009-03-01 2014-11-19 652978 ENSG00000241984 OTTHUMG00000158046 AL109628 NG_009399 19123937 PGOHUM00000248144 HGNC:23552 +HGNC:23553 RPL7AP3 ribosomal protein L7a pseudogene 3 pseudogene pseudogene Approved 14q13.2 14q13.2 2005-12-22 2017-10-30 654370 ENSG00000256243 OTTHUMG00000171027 AL121594 NG_009375 PGOHUM00000292322 HGNC:23553 +HGNC:23554 RPL7AP4 ribosomal protein L7a pseudogene 4 pseudogene pseudogene Approved 14q22.3 14q22.3 2009-03-01 2014-11-19 652985 ENSG00000213641 OTTHUMG00000157913 AL138499 NG_009400 19123937 PGOHUM00000248178 HGNC:23554 +HGNC:19781 RPL7AP5 ribosomal protein L7a pseudogene 5 pseudogene pseudogene Approved 14q24.1 14q24.1 2009-03-01 2021-09-30 326309 ENSG00000240210 NG_002561 19123937 PGOHUM00000292389 HGNC:19781 +HGNC:19785 RPL7AP6 ribosomal protein L7a pseudogene 6 pseudogene pseudogene Approved 14q24.2 14q24.2 2009-03-01 2014-11-19 326310 ENSG00000242071 OTTHUMG00000157981 NG_002562 19123937 HGNC:19785 +HGNC:21395 RPL7AP7 ribosomal protein L7a pseudogene 7 pseudogene pseudogene Approved 6p22.1 06p22.1 "RPL7B|dJ377H14.2" 2009-03-01 2017-10-30 353013 ENSG00000213880 OTTHUMG00000031297 NG_002738 "10557312|19123937" PGOHUM00000301314 HGNC:21395 +HGNC:23738 RPL7AP8 ribosomal protein L7a pseudogene 8 pseudogene pseudogene Approved 10q23.2 10q23.2 bA141D8.1 2009-03-01 2016-08-17 340749 ENSG00000230507 OTTHUMG00000018653 NG_005665 19123937 PGOHUM00000289937 HGNC:23738 +HGNC:32398 RPL7AP9 ribosomal protein L7a pseudogene 9 pseudogene pseudogene Approved 12q21.2 12q21.2 RPL7AP59 ribosomal protein L7a pseudogene 59 2005-12-09 2017-03-27 441642 ENSG00000213272 OTTHUMG00000157621 AJ224081 NG_010228 8482538 PGOHUM00000291738 HGNC:32398 +HGNC:32433 RPL7AP10 ribosomal protein L7a pseudogene 10 pseudogene pseudogene Approved 19p12 19p12 RPL7AP68 ribosomal protein L7a pseudogene 68 2005-12-22 2016-07-25 161406 ENSG00000240522 OTTHUMG00000158087 AJ224082 NG_001317 8482538 PGOHUM00000294932 HGNC:32433 +HGNC:35242 RPL7AP11 ribosomal protein L7a pseudogene 11 pseudogene pseudogene Approved 3q13.33 03q13.33 2009-03-01 2014-11-18 728992 ENSG00000242445 OTTHUMG00000157358 NG_009397 19123937 PGOHUM00000238152 HGNC:35242 +HGNC:16562 RPL7AP12 ribosomal protein L7a pseudogene 12 pseudogene pseudogene Approved 20p13 20p13 dJ189G13.1 RPL7AL2 ribosomal protein L7a-like 2 2001-09-17 2009-01-23 2009-01-23 2021-09-30 128668 ENSG00000228210 AL121916 NG_000969.3 PGOHUM00000296887 HGNC:16562 +HGNC:16565 RPL7AP13 ribosomal protein L7a pseudogene 13 pseudogene pseudogene Approved 20p12.1 20p12.1 dJ348M17.1 RPL7AL3 ribosomal protein L7a-like 3 2001-09-17 2009-01-23 2009-01-23 2021-09-30 128748 ENSG00000235208 AL135938 NG_000974 PGOHUM00000296907 HGNC:16565 +HGNC:16590 RPL7AP14 ribosomal protein L7a pseudogene 14 pseudogene pseudogene Approved 20q11.23 20q11.23 dJ823N20.2 RPL7AL4 ribosomal protein L7a-like 4 2009-03-01 2009-01-23 2009-01-23 2016-07-25 140756 ENSG00000213979 OTTHUMG00000032418 AL133293 NG_000999 19123937 PGOHUM00000296990 HGNC:16590 +HGNC:36873 RPL7AP15 ribosomal protein L7a pseudogene 15 pseudogene pseudogene Approved 1q21.1 01q21.1 2009-03-06 2017-10-30 100270895 ENSG00000236806 OTTHUMG00000041477 NG_010250 19123937 PGOHUM00000296544 HGNC:36873 +HGNC:35898 RPL7AP16 ribosomal protein L7a pseudogene 16 pseudogene pseudogene Approved 1p34.1 01p34.1 2009-03-06 2021-09-30 100270896 ENSG00000234329 NG_010253 19123937 PGOHUM00000295656 HGNC:35898 +HGNC:36501 RPL7AP17 ribosomal protein L7a pseudogene 17 pseudogene pseudogene Approved 1p21.2 01p21.2 2009-03-06 2021-09-30 100270897 ENSG00000213421 NG_010257 19123937 PGOHUM00000295767 HGNC:36501 +HGNC:35613 RPL7AP18 ribosomal protein L7a pseudogene 18 pseudogene pseudogene Approved 1p36.23 01p36.23 2009-03-06 2021-09-30 390993 ENSG00000232848 NG_009561 19123937 PGOHUM00000295537 HGNC:35613 +HGNC:36820 RPL7AP19 ribosomal protein L7a pseudogene 19 pseudogene pseudogene Approved 1q24.2 01q24.2 2009-03-06 2021-09-30 100271036 ENSG00000227777 NG_010967 19123937 PGOHUM00000296649 HGNC:36820 +HGNC:36358 RPL7AP20 ribosomal protein L7a pseudogene 20 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2021-09-30 100271037 ENSG00000234981 NG_010971 19123937 PGOHUM00000296742 HGNC:36358 +HGNC:37020 RPL7AP21 ribosomal protein L7a pseudogene 21 pseudogene pseudogene Approved 1q24.2 01q24.2 2009-03-06 2021-09-30 100271038 ENSG00000229757 NG_010978 19123937 PGOHUM00000295947 HGNC:37020 +HGNC:36592 RPL7AP22 ribosomal protein L7a pseudogene 22 pseudogene pseudogene Approved 2q24.1 02q24.1 2009-03-06 2019-10-11 100271039 ENSG00000227331 NG_010986 19123937 HGNC:36592 +HGNC:36884 RPL7AP23 ribosomal protein L7a pseudogene 23 pseudogene pseudogene Approved 3p12.2 03p12.2 2009-03-06 2013-07-31 100271040 ENSG00000241367 OTTHUMG00000157328 NG_010992 19123937 PGOHUM00000237669 HGNC:36884 +HGNC:36588 RPL7AP24 ribosomal protein L7a pseudogene 24 pseudogene pseudogene Approved 3q25.31 03q25.31 2009-03-06 2021-09-30 100271041 ENSG00000241307 NG_010997 19123937 PGOHUM00000299636 HGNC:36588 +HGNC:36714 RPL7AP25 ribosomal protein L7a pseudogene 25 pseudogene pseudogene Approved 3q26.33 03q26.33 2009-03-06 2013-09-24 100271042 ENSG00000235294 OTTHUMG00000157270 NG_011001 19123937 PGOHUM00000237884 HGNC:36714 +HGNC:36815 RPL7AP26 ribosomal protein L7a pseudogene 26 pseudogene pseudogene Approved 4q21.22 04q21.22 2009-03-06 2014-11-19 728128 ENSG00000214988 OTTHUMG00000157511 NG_010339 19123937 PGOHUM00000245613 HGNC:36815 +HGNC:36806 RPL7AP27 ribosomal protein L7a pseudogene 27 pseudogene pseudogene Approved 4q35.2 04q35.2 2009-03-06 2021-09-30 152663 ENSG00000242169 NG_010457 19123937 PGOHUM00000300096 HGNC:36806 +HGNC:35656 RPL7AP28 ribosomal protein L7a pseudogene 28 pseudogene pseudogene Approved 4q28.3 04q28.3 2009-03-06 2013-09-24 100271209 ENSG00000184139 OTTHUMG00000157555 NG_010540 19123937 PGOHUM00000245697 HGNC:35656 +HGNC:36394 RPL7AP29 ribosomal protein L7a pseudogene 29 pseudogene pseudogene Approved 4p16.3 04p16.3 2009-03-06 2021-09-30 100271043 ENSG00000248843 NG_011005 19123937 PGOHUM00000299736 HGNC:36394 +HGNC:35757 RPL7AP30 ribosomal protein L7a pseudogene 30 pseudogene pseudogene Approved 4q25 04q25 2009-03-06 2015-08-24 441034 ENSG00000241741 OTTHUMG00000157546 NG_011047 19123937 PGOHUM00000299959 HGNC:35757 +HGNC:36857 RPL7AP31 ribosomal protein L7a pseudogene 31 pseudogene pseudogene Approved 4q12 04q12 2009-03-06 2017-10-30 728315 ENSG00000242083 OTTHUMG00000157477 NG_011300 19123937 PGOHUM00000300212 HGNC:36857 +HGNC:36415 RPL7AP32 ribosomal protein L7a pseudogene 32 pseudogene pseudogene Approved 5q14.1 05q14.1 2009-03-06 2021-09-30 133748 ENSG00000243160 NG_010602 19123937 PGOHUM00000301031 HGNC:36415 +HGNC:36679 RPL7AP33 ribosomal protein L7a pseudogene 33 pseudogene pseudogene Approved 5q35.1 05q35.1 2009-03-06 2017-10-30 391850 ENSG00000254200 OTTHUMG00000157942 NG_011377 19123937 PGOHUM00000300824 HGNC:36679 +HGNC:36778 RPL7AP34 ribosomal protein L7a pseudogene 34 pseudogene pseudogene Approved 6q12 06q12 2009-03-06 2017-10-30 441154 ENSG00000213312 OTTHUMG00000014948 NG_010352 19123937 PGOHUM00000301411 HGNC:36778 +HGNC:36113 RPL7AP35 ribosomal protein L7a pseudogene 35 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2021-09-30 100271210 ENSG00000216639 NG_010549 19123937 PGOHUM00000301901 HGNC:36113 +HGNC:36356 RPL7AP36 ribosomal protein L7a pseudogene 36 pseudogene pseudogene Approved 6p24.3 06p24.3 2009-03-06 2021-09-30 728179 ENSG00000216368 NG_010595 19123937 PGOHUM00000301656 HGNC:36356 +HGNC:36507 RPL7AP37 ribosomal protein L7a pseudogene 37 pseudogene pseudogene Approved 6q23.3 06q23.3 2009-03-06 2021-09-30 645257 ENSG00000213109 NG_010716 19123937 PGOHUM00000301568 HGNC:36507 +HGNC:36161 RPL7AP38 ribosomal protein L7a pseudogene 38 pseudogene pseudogene Approved 7p15.2 07p15.2 2009-03-06 2017-10-30 442660 ENSG00000213787 OTTHUMG00000033538 NG_009419 19123937 PGOHUM00000302558 HGNC:36161 +HGNC:35881 RPL7AP39 ribosomal protein L7a pseudogene 39 pseudogene pseudogene Approved 7q22.1 07q22.1 2009-03-06 2021-09-30 646476 ENSG00000213385 NG_010410 19123937 PGOHUM00000302875 HGNC:35881 +HGNC:35883 RPL7AP40 ribosomal protein L7a pseudogene 40 pseudogene pseudogene Approved 7q21.3 07q21.3 2009-03-06 2021-09-30 442712 ENSG00000224475 NG_009431 19123937 PGOHUM00000302350 HGNC:35883 +HGNC:36403 RPL7AP41 ribosomal protein L7a pseudogene 41 pseudogene pseudogene Approved 7p15.3 07p15.3 2009-03-06 2021-09-30 100271213 ENSG00000213798 NG_010563 19123937 PGOHUM00000302075 HGNC:36403 +HGNC:36716 RPL7AP42 ribosomal protein L7a pseudogene 42 pseudogene pseudogene Approved 7q31.1 07q31.1 2009-03-06 2021-09-30 100271215 ENSG00000234358 NG_010571 19123937 PGOHUM00000302394 HGNC:36716 +HGNC:35775 RPL7AP43 ribosomal protein L7a pseudogene 43 pseudogene pseudogene Approved 7q11.23 07q11.23 2009-03-06 2021-09-30 644236 ENSG00000213542 NG_010732 19123937 PGOHUM00000302327 HGNC:35775 +HGNC:36645 RPL7AP44 ribosomal protein L7a pseudogene 44 pseudogene pseudogene Approved 9q31.2 09q31.2 2009-03-06 2021-09-30 100271398 ENSG00000231562 NG_011356 19123937 PGOHUM00000304022 HGNC:36645 +HGNC:35935 RPL7AP45 ribosomal protein L7a pseudogene 45 pseudogene pseudogene Approved 9p11.2 09p11.2 2009-03-06 2021-09-30 100132678 ENSG00000275160 NG_010378 19123937 PGOHUM00000304214 HGNC:35935 +HGNC:35698 RPL7AP46 ribosomal protein L7a pseudogene 46 pseudogene pseudogene Approved 9q13 09q13 2009-03-06 2021-09-30 441440 ENSG00000233555 NG_010499 19123937 PGOHUM00000303871 HGNC:35698 +HGNC:36833 RPL7AP47 ribosomal protein L7a pseudogene 47 pseudogene pseudogene Approved 9p22.3 09p22.3 2009-03-06 2021-09-30 100271211 ENSG00000234982 NG_010554 19123937 PGOHUM00000304112 HGNC:36833 +HGNC:35953 RPL7AP48 ribosomal protein L7a pseudogene 48 pseudogene pseudogene Approved 9p21.3 09p21.3 2009-03-06 2021-09-30 100271212 ENSG00000237088 NG_010558 19123937 PGOHUM00000304121 HGNC:35953 +HGNC:35507 RPL7AP49 ribosomal protein L7a pseudogene 49 pseudogene pseudogene Approved 9p12 09p12 2009-03-06 2016-11-01 100271214 ENSG00000184961 OTTHUMG00000066713 NG_011370 19123937 PGOHUM00000303810 HGNC:35507 +HGNC:36117 RPL7AP50 ribosomal protein L7a pseudogene 50 pseudogene pseudogene Approved 10q21.3 10q21.3 2009-03-06 2016-08-16 87688 ENSG00000213609 OTTHUMG00000018321 NG_003062 19123937 PGOHUM00000289875 HGNC:36117 +HGNC:36826 RPL7AP51 ribosomal protein L7a pseudogene 51 pseudogene pseudogene Approved 10q21.3 10q21.3 2009-03-06 2016-08-17 100271533 ENSG00000226448 OTTHUMG00000018333 NG_010899 19123937 PGOHUM00000290185 HGNC:36826 +HGNC:36233 RPL7AP52 ribosomal protein L7a pseudogene 52 pseudogene pseudogene Approved 10q23.33 10q23.33 2009-03-06 2016-08-16 100271534 ENSG00000225354 OTTHUMG00000018798 NG_010903 19123937 PGOHUM00000290255 HGNC:36233 +HGNC:36392 RPL7AP53 ribosomal protein L7a pseudogene 53 pseudogene pseudogene Approved 10p11.22 10p11.22 2009-03-06 2016-08-17 401640 ENSG00000235962 OTTHUMG00000017935 NG_011194 19123937 PGOHUM00000289789 HGNC:36392 +HGNC:36264 RPL7AP54 ribosomal protein L7a pseudogene 54 pseudogene pseudogene Approved 11q14.1 11q14.1 2009-03-06 2021-09-30 390228 ENSG00000242279 NG_010447 19123937 HGNC:36264 +HGNC:36314 RPL7AP55 ribosomal protein L7a pseudogene 55 pseudogene pseudogene Approved 11p15.4 11p15.4 2009-03-06 2021-09-30 100271535 ENSG00000241008 NG_010910 19123937 PGOHUM00000290814 HGNC:36314 +HGNC:35585 RPL7AP56 ribosomal protein L7a pseudogene 56 pseudogene pseudogene Approved 11p12 11p12 2009-03-06 2013-09-24 100271536 ENSG00000242834 OTTHUMG00000158348 NG_010915 19123937 PGOHUM00000242641 HGNC:35585 +HGNC:36551 RPL7AP57 ribosomal protein L7a pseudogene 57 pseudogene pseudogene Approved 11q14.3 11q14.3 2009-03-06 2013-09-24 100271537 ENSG00000242248 OTTHUMG00000158435 NG_010920 19123937 PGOHUM00000242856 HGNC:36551 +HGNC:36586 RPL7AP58 ribosomal protein L7a pseudogene 58 pseudogene pseudogene Approved 11p14.1 11p14.1 2009-03-06 2017-10-30 645846 ENSG00000240554 OTTHUMG00000158337 NG_011385 19123937 PGOHUM00000290859 HGNC:36586 +HGNC:35859 RPL7AP60 ribosomal protein L7a pseudogene 60 pseudogene pseudogene Approved 12q24.13 12q24.13 2009-03-06 2017-10-30 100271538 ENSG00000213152 OTTHUMG00000157739 NG_010924 19123937 PGOHUM00000291468 HGNC:35859 +HGNC:35482 RPL7AP61 ribosomal protein L7a pseudogene 61 pseudogene pseudogene Approved 13q32.2 13q32.2 2009-03-06 2010-12-02 100271539 ENSG00000233291 OTTHUMG00000017243 NG_010928 19123937 PGOHUM00000248669 HGNC:35482 +HGNC:36890 RPL7AP62 ribosomal protein L7a pseudogene 62 pseudogene pseudogene Approved 15q21.1 15q21.1 2009-03-06 2021-09-30 644029 ENSG00000213862 NG_010977 19123937 PGOHUM00000292943 HGNC:36890 +HGNC:35504 RPL7AP63 ribosomal protein L7a pseudogene 63 pseudogene pseudogene Approved 16q24.1 16q24.1 2009-03-06 2021-09-30 401865 ENSG00000243697 NG_011041 19123937 PGOHUM00000293917 HGNC:35504 +HGNC:35821 RPL7AP64 ribosomal protein L7a pseudogene 64 pseudogene pseudogene Approved 17p13.1 17p13.1 2009-03-06 2017-10-30 728486 ENSG00000213876 OTTHUMG00000157687 NG_011376 19123937 PGOHUM00000294263 HGNC:35821 +HGNC:37031 RPL7AP65 ribosomal protein L7a pseudogene 65 pseudogene pseudogene Approved 17p11.2 17p11.2 2009-03-06 2017-10-30 100271543 ENSG00000228000 OTTHUMG00000059393 NG_010952 19123937 PGOHUM00000294289 HGNC:37031 +HGNC:35682 RPL7AP66 ribosomal protein L7a pseudogene 66 pseudogene pseudogene Approved 18q12.2 18q12.2 2009-03-06 2012-08-13 388474 ENSG00000175886 NG_010633 19123937 HGNC:35682 +HGNC:35537 RPL7AP67 ribosomal protein L7a pseudogene 67 pseudogene pseudogene Approved 18q12.2 18q12.2 2009-03-06 2021-09-30 100271542 ENSG00000239683 NG_010944 19123937 PGOHUM00000294649 HGNC:35537 +HGNC:36697 RPL7AP69 ribosomal protein L7a pseudogene 69 pseudogene pseudogene Approved 19q13.43 19q13.43 2009-03-06 2013-09-24 100271545 ENSG00000268483 OTTHUMG00000158331 NG_010957 19123937 PGOHUM00000234808 HGNC:36697 +HGNC:36752 RPL7AP70 ribosomal protein L7a pseudogene 70 pseudogene pseudogene Approved 22q11.21 22q11.21 2009-03-06 2021-09-30 728139 ENSG00000235776 NG_010403 19123937 PGOHUM00000297634 HGNC:36752 +HGNC:35754 RPL7AP71 ribosomal protein L7a pseudogene 71 pseudogene pseudogene Approved Xp11.22 Xp11.22 2009-03-06 2011-09-20 100271399 ENSG00000234566 OTTHUMG00000021624 NG_010209 19123937 PGOHUM00000241789 HGNC:35754 +HGNC:36442 RPL7AP72 ribosomal protein L7a pseudogene 72 pseudogene pseudogene Approved Xq25 Xq25 2009-03-06 2011-01-17 100270754 ENSG00000235735 OTTHUMG00000022363 NG_009639 19123937 PGOHUM00000242003 HGNC:36442 +HGNC:41968 RPL7AP73 ribosomal protein L7a pseudogene 73 pseudogene pseudogene Approved 13q12.12 13q12.12 2011-05-24 2011-05-24 100873817 ENSG00000237952 OTTHUMG00000016552 NG_032383 PGOHUM00000248524 HGNC:41968 +HGNC:55897 RPL7AP74 ribosomal protein L7a pseudogene 74 pseudogene pseudogene Approved 12q12 12q12 2021-09-30 2021-09-30 390306 ENSG00000255991 NG_021685 PGOHUM00000291301 +HGNC:55898 RPL7AP75 ribosomal protein L7a pseudogene 75 pseudogene pseudogene Approved 15q22.2 15q22.2 2021-09-30 2021-09-30 100132644 ENSG00000259674 NG_022899 PGOHUM00000292967 +HGNC:55899 RPL7AP76 ribosomal protein L7a pseudogene 76 pseudogene pseudogene Approved 9q13 09q13 2021-09-30 2021-09-30 643630 ENSG00000231995 NG_021656 PGOHUM00000304244 +HGNC:55900 RPL7AP77 ribosomal protein L7a pseudogene 77 pseudogene pseudogene Approved 7q11.23 07q11.23 2021-10-01 2021-10-01 122965336 ENSG00000225005 +HGNC:55901 RPL7AP78 ribosomal protein L7a pseudogene 78 pseudogene pseudogene Approved 7p14.3 07p14.3 2021-10-01 2021-10-01 122965331 ENSG00000224573 PGOHUM00000302576 +HGNC:55902 RPL7AP79 ribosomal protein L7a pseudogene 79 pseudogene pseudogene Approved 11p11.2 11p11.2 2021-10-01 2021-10-01 122965337 ENSG00000255106 PGOHUM00000290444 +HGNC:55903 RPL7AP80 ribosomal protein L7a pseudogene 80 pseudogene pseudogene Approved 8p11.22 08p11.22 2021-10-01 2021-10-01 122965332 ENSG00000253332 PGOHUM00000303513 +HGNC:55904 RPL7AP81 ribosomal protein L7a pseudogene 81 pseudogene pseudogene Approved 1q41 01q41 2021-10-01 2021-10-01 122965333 ENSG00000235163 PGOHUM00000296775 +HGNC:55905 RPL7AP82 ribosomal protein L7a pseudogene 82 pseudogene pseudogene Approved 1q44 01q44 2021-10-01 2021-10-01 122965338 ENSG00000228955 PGOHUM00000296150 +HGNC:21370 RPL7L1 ribosomal protein L7 like 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 dJ475N16.4 ribosomal protein L7-like 1 L ribosomal proteins 729 2003-11-27 2015-11-17 2018-11-19 285855 ENSG00000146223 OTTHUMG00000014710 uc003osv.5 NM_198486 CCDS4873 Q6DKI1 MGI:1913479 RGD:1308469 617417 HGNC:21370 "ENST00000493763.7|NM_001366481.3" +HGNC:39455 RPL7L1P1 ribosomal protein L7 like 1 pseudogene 1 pseudogene pseudogene Approved 13q31.3 13q31.3 ribosomal protein L7-like 1 pseudogene 1 2011-01-14 2015-11-17 2015-11-17 100129260 ENSG00000234227 OTTHUMG00000017180 NG_009895 PGOHUM00000248460 HGNC:39455 +HGNC:39484 RPL7L1P2 ribosomal protein L7 like 1 pseudogene 2 pseudogene pseudogene Approved 7p12.1 07p12.1 ribosomal protein L7-like 1 pseudogene 2 2011-01-18 2015-11-17 2015-11-17 100420155 ENSG00000231490 OTTHUMG00000156002 NG_051816 PGOHUM00000232688 HGNC:39484 +HGNC:39485 RPL7L1P3 ribosomal protein L7 like 1 pseudogene 3 pseudogene pseudogene Approved 7q11.23 07q11.23 ribosomal protein L7-like 1 pseudogene 3 2011-01-18 2015-11-17 2015-11-17 100131964 ENSG00000235090 OTTHUMG00000156434 NG_008930 PGOHUM00000233435 HGNC:39485 +HGNC:39486 RPL7L1P4 ribosomal protein L7 like 1 pseudogene 4 pseudogene pseudogene Approved 5q23.1 05q23.1 ribosomal protein L7-like 1 pseudogene 4 2011-01-18 2015-11-17 2015-11-17 100130968 ENSG00000249582 OTTHUMG00000162891 NG_009915 PGOHUM00000235367 HGNC:39486 +HGNC:39487 RPL7L1P5 ribosomal protein L7 like 1 pseudogene 5 pseudogene pseudogene Approved 17q21.31 17q21.31 ribosomal protein L7-like 1 pseudogene 5 2011-01-18 2015-11-17 2015-11-17 390800 ENSG00000267634 OTTHUMG00000181817 NG_022451 PGOHUM00000264258 HGNC:39487 +HGNC:39488 RPL7L1P6 ribosomal protein L7 like 1 pseudogene 6 pseudogene pseudogene Approved 13q32.3 13q32.3 ribosomal protein L7-like 1 pseudogene 6 2011-01-18 2015-11-17 2015-11-17 100420201 NG_024947 PGOHUM00000248675 HGNC:39488 +HGNC:39489 RPL7L1P7 ribosomal protein L7 like 1 pseudogene 7 pseudogene pseudogene Approved 3q23 03q23 ribosomal protein L7-like 1 pseudogene 7 2011-01-18 2015-11-17 2015-11-17 646641 ENSG00000251137 OTTHUMG00000159953 NG_022221 PGOHUM00000237789 HGNC:39489 +HGNC:39490 RPL7L1P8 ribosomal protein L7 like 1 pseudogene 8 pseudogene pseudogene Approved 3q26.33 03q26.33 ribosomal protein L7-like 1 pseudogene 8 2011-01-18 2015-11-17 2015-11-17 402152 ENSG00000228766 OTTHUMG00000158298 NG_009922 PGOHUM00000238282 HGNC:39490 +HGNC:39491 RPL7L1P9 ribosomal protein L7 like 1 pseudogene 9 pseudogene pseudogene Approved 2q35 02q35 ribosomal protein L7-like 1 pseudogene 9 2011-01-18 2015-11-17 2015-11-17 100128899 ENSG00000231035 OTTHUMG00000155261 NG_009911 PGOHUM00000240522 HGNC:39491 +HGNC:39492 RPL7L1P10 ribosomal protein L7 like 1 pseudogene 10 pseudogene pseudogene Approved 2q36.3 02q36.3 ribosomal protein L7-like 1 pseudogene 10 2011-01-18 2015-11-17 2015-11-17 106480729 ENSG00000237322 OTTHUMG00000153591 NG_043639 HGNC:39492 +HGNC:39493 RPL7L1P11 ribosomal protein L7 like 1 pseudogene 11 pseudogene pseudogene Approved Xq28 Xq28 ribosomal protein L7-like 1 pseudogene 11 2011-01-18 2015-11-17 2015-11-17 347509 ENSG00000176970 OTTHUMG00000022610 NG_009927 PGOHUM00000242068 HGNC:39493 +HGNC:39811 RPL7L1P12 ribosomal protein L7 like 1 pseudogene 12 pseudogene pseudogene Approved 13q32.3 13q32.3 ribosomal protein L7-like 1 pseudogene 12 2011-03-29 2015-11-17 2015-11-17 100420200 ENSG00000231981 OTTHUMG00000017257 NG_024880 PGOHUM00000248476 HGNC:39811 +HGNC:44212 RPL7L1P13 ribosomal protein L7 like 1 pseudogene 13 pseudogene pseudogene Approved 4q25 04q25 ribosomal protein L7-like 1 pseudogene 13 2012-07-09 2015-11-17 2015-11-17 100133103 ENSG00000251464 OTTHUMG00000161110 NG_009923 PGOHUM00000299954 HGNC:44212 +HGNC:10367 RPL7P1 ribosomal protein L7 pseudogene 1 pseudogene pseudogene Approved 5q32 05q32 "RPL17P|RPL7P" ribosomal protein L7 pseudogene 2009-03-01 2013-10-09 2013-10-09 2014-11-18 6174 ENSG00000214485 OTTHUMG00000157906 X72686 NG_001193 "8001978|19123937" HGNC:10367 +HGNC:16336 RPL7P2 ribosomal protein L7 pseudogene 2 pseudogene pseudogene Approved 20p13 20p13 bA550O8.1 2001-09-17 2013-10-09 140695 ENSG00000227663 OTTHUMG00000031686 AL359916 NG_000981 PGOHUM00000247579 HGNC:16336 +HGNC:16566 RPL7P3 ribosomal protein L7 pseudogene 3 pseudogene pseudogene Approved 20q13.33 20q13.33 dJ353C17.2 2001-09-17 2013-10-09 140857 ENSG00000226094 OTTHUMG00000048001 AL449263 NG_001005 PGOHUM00000259648 HGNC:16566 +HGNC:21634 RPL7P4 ribosomal protein L7 pseudogene 4 pseudogene pseudogene Approved 6p21.33 06p21.33 Em:AB023049.2 2009-03-01 2014-11-18 100133037 ENSG00000230449 OTTHUMG00000031255 AB088099 NG_009564 19123937 PGOHUM00000243137 HGNC:21634 +HGNC:28886 RPL7P5 ribosomal protein L7 pseudogene 5 pseudogene pseudogene Approved 15q26.3 15q26.3 2009-03-01 2014-11-19 654381 ENSG00000241562 OTTHUMG00000158070 AC103967 NG_009530 19123937 PGOHUM00000246938 HGNC:28886 +HGNC:32430 RPL7P6 ribosomal protein L7 pseudogene 6 pseudogene pseudogene Approved 12p12.3 12p12.3 2009-03-01 2014-11-18 90193 ENSG00000227525 OTTHUMG00000157497 AC092828 NG_005389 19123937 PGOHUM00000258664 HGNC:32430 +HGNC:36895 RPL7P7 ribosomal protein L7 pseudogene 7 pseudogene pseudogene Approved 1p36.23 01p36.23 2009-03-06 2013-10-09 644896 ENSG00000224315 OTTHUMG00000001775 NG_005688 19123937 PGOHUM00000259449 HGNC:36895 +HGNC:35914 RPL7P8 ribosomal protein L7 pseudogene 8 pseudogene pseudogene Approved 1p13.3 01p13.3 2009-03-06 2013-10-09 441896 ENSG00000235045 OTTHUMG00000011636 NG_010218 19123937 PGOHUM00000244839 HGNC:35914 +HGNC:37028 RPL7P9 ribosomal protein L7 pseudogene 9 pseudogene pseudogene Approved 1p21.3 01p21.3 2009-03-06 2013-10-09 653702 ENSG00000137970 OTTHUMG00000010686 NG_007184 19123937 HGNC:37028 +HGNC:36599 RPL7P10 ribosomal protein L7 pseudogene 10 pseudogene pseudogene Approved 1p31.1 01p31.1 2009-03-06 2013-10-09 646538 ENSG00000229752 OTTHUMG00000009727 NG_010722 19123937 PGOHUM00000244082 HGNC:36599 +HGNC:35667 RPL7P11 ribosomal protein L7 pseudogene 11 pseudogene pseudogene Approved 1p36.23 01p36.23 2009-03-06 2013-10-09 100270823 ENSG00000234619 OTTHUMG00000001774 NG_011186 19123937 PGOHUM00000259551 HGNC:35667 +HGNC:36611 RPL7P12 ribosomal protein L7 pseudogene 12 pseudogene pseudogene Approved 2p22.2 02p22.2 2009-03-06 2013-10-09 100131085 ENSG00000227770 OTTHUMG00000152270 NG_010041 19123937 PGOHUM00000240623 HGNC:36611 +HGNC:36861 RPL7P13 ribosomal protein L7 pseudogene 13 pseudogene pseudogene Approved 2p16.3 02p16.3 2009-03-06 2013-10-09 130728 ENSG00000234253 OTTHUMG00000151779 NG_010878 19123937 PGOHUM00000240639 HGNC:36861 +HGNC:35984 RPL7P14 ribosomal protein L7 pseudogene 14 pseudogene pseudogene Approved 2q33.2 02q33.2 2009-03-06 2011-01-18 100129743 ENSG00000232994 OTTHUMG00000154574 NG_011075 19123937 PGOHUM00000241083 HGNC:35984 +HGNC:36740 RPL7P15 ribosomal protein L7 pseudogene 15 pseudogene pseudogene Approved 3q21.2 03q21.2 2009-03-06 2013-10-09 100270850 ENSG00000240622 OTTHUMG00000157359 NG_009964 19123937 PGOHUM00000237742 HGNC:36740 +HGNC:36591 RPL7P16 ribosomal protein L7 pseudogene 16 pseudogene pseudogene Approved 3q22.1 03q22.1 2009-03-06 2013-10-09 729677 ENSG00000242899 OTTHUMG00000157375 NG_010415 19123937 PGOHUM00000259834 HGNC:36591 +HGNC:36116 RPL7P17 ribosomal protein L7 pseudogene 17 pseudogene pseudogene Approved 4q21.1 04q21.1 2009-03-06 2013-10-09 100270851 ENSG00000214062 OTTHUMG00000157502 NG_009971 19123937 PGOHUM00000245598 HGNC:36116 +HGNC:36949 RPL7P18 ribosomal protein L7 pseudogene 18 pseudogene pseudogene Approved 5q15 05q15 2009-03-06 2013-10-09 100270852 ENSG00000243806 OTTHUMG00000157803 NG_009976 19123937 PGOHUM00000235316 HGNC:36949 +HGNC:36268 RPL7P19 ribosomal protein L7 pseudogene 19 pseudogene pseudogene Approved 5q31.2 05q31.2 2009-03-06 2013-10-09 100270853 ENSG00000241458 OTTHUMG00000157864 NG_009983 19123937 PGOHUM00000235770 HGNC:36268 +HGNC:36013 RPL7P20 ribosomal protein L7 pseudogene 20 pseudogene pseudogene Approved 5q34 05q34 2009-03-06 2013-10-09 728843 ENSG00000254252 OTTHUMG00000157934 NG_010025 19123937 PGOHUM00000235449 HGNC:36013 +HGNC:36762 RPL7P21 ribosomal protein L7 pseudogene 21 pseudogene pseudogene Approved 5q31.3 05q31.3 2009-03-06 2013-10-09 729123 ENSG00000231579 OTTHUMG00000157888 NG_010188 19123937 PGOHUM00000235800 HGNC:36762 +HGNC:35802 RPL7P22 ribosomal protein L7 pseudogene 22 pseudogene pseudogene Approved 5q13.2 05q13.2 2009-03-06 2011-01-18 728620 ENSG00000226544 OTTHUMG00000157744 NG_009670 19123937 PGOHUM00000235649 HGNC:35802 +HGNC:35658 RPL7P23 ribosomal protein L7 pseudogene 23 pseudogene pseudogene Approved 5q13.3 05q13.3 2009-03-06 2013-10-09 648000 ENSG00000244363 OTTHUMG00000157760 NG_010343 19123937 HGNC:35658 +HGNC:36715 RPL7P24 ribosomal protein L7 pseudogene 24 pseudogene pseudogene Approved 5q14.1 05q14.1 2009-03-06 2013-10-09 100127893 ENSG00000240003 OTTHUMG00000157787 NG_010787 19123937 PGOHUM00000260084 HGNC:36715 +HGNC:36455 RPL7P25 ribosomal protein L7 pseudogene 25 pseudogene pseudogene Approved 6p21.31 06p21.31 2009-03-06 2013-10-09 100129061 ENSG00000216636 OTTHUMG00000014550 NG_009529 19123937 PGOHUM00000243599 HGNC:36455 +HGNC:36630 RPL7P26 ribosomal protein L7 pseudogene 26 pseudogene pseudogene Approved 6p22.3 06p22.3 2009-03-06 2013-10-09 728380 ENSG00000184612 OTTHUMG00000014308 NG_009536 19123937 PGOHUM00000260108 HGNC:36630 +HGNC:36649 RPL7P27 ribosomal protein L7 pseudogene 27 pseudogene pseudogene Approved 6q14.3 06q14.3 2009-03-06 2013-10-09 643906 ENSG00000220069 OTTHUMG00000015148 NG_010353 19123937 PGOHUM00000260137 HGNC:36649 +HGNC:35899 RPL7P28 ribosomal protein L7 pseudogene 28 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2013-10-09 442242 ENSG00000218632 OTTHUMG00000015343 NG_011375 19123937 PGOHUM00000243324 HGNC:35899 +HGNC:35700 RPL7P29 ribosomal protein L7 pseudogene 29 pseudogene pseudogene Approved 6q14.3 06q14.3 2009-03-06 2013-06-19 643971 ENSG00000214457 OTTHUMG00000015157 NG_010680 19123937 PGOHUM00000243698 HGNC:35700 +HGNC:36151 RPL7P30 ribosomal protein L7 pseudogene 30 pseudogene pseudogene Approved 7q21.11 07q21.11 2009-03-06 2013-09-24 100270908 ENSG00000227982 OTTHUMG00000154720 NG_010316 19123937 PGOHUM00000260274 HGNC:36151 +HGNC:36988 RPL7P31 ribosomal protein L7 pseudogene 31 pseudogene pseudogene Approved 7p14.3 07p14.3 2009-03-06 2012-03-23 100270909 ENSG00000235379 OTTHUMG00000153021 NG_010320 19123937 PGOHUM00000233176 HGNC:36988 +HGNC:35692 RPL7P32 ribosomal protein L7 pseudogene 32 pseudogene pseudogene Approved 7q31.1 07q31.1 2009-03-06 2013-10-09 100130892 ENSG00000231006 OTTHUMG00000157146 NG_010411 19123937 HGNC:35692 +HGNC:35937 RPL7P33 ribosomal protein L7 pseudogene 33 pseudogene pseudogene Approved 9p22.3 09p22.3 2009-03-06 2013-10-09 286348 ENSG00000215236 OTTHUMG00000019582 NG_010731 19123937 PGOHUM00000260496 HGNC:35937 +HGNC:36181 RPL7P34 ribosomal protein L7 pseudogene 34 pseudogene pseudogene Approved 10q23.31 10q23.31 2009-03-06 2013-10-09 389992 ENSG00000237205 OTTHUMG00000018690 NG_010538 19123937 PGOHUM00000238576 HGNC:36181 +HGNC:36153 RPL7P35 ribosomal protein L7 pseudogene 35 pseudogene pseudogene Approved 10q25.2 10q25.2 2009-03-06 2013-10-09 100271216 ENSG00000233518 OTTHUMG00000019041 NG_010577 19123937 PGOHUM00000238623 HGNC:36153 +HGNC:37045 RPL7P36 ribosomal protein L7 pseudogene 36 pseudogene pseudogene Approved 10q24.2 10q24.2 2009-03-06 2012-05-10 100271218 ENSG00000234109 OTTHUMG00000018879 NG_010586 19123937 PGOHUM00000238904 HGNC:37045 +HGNC:36656 RPL7P37 ribosomal protein L7 pseudogene 37 pseudogene pseudogene Approved 10p11.21 10p11.21 2009-03-06 2013-10-09 439954 ENSG00000226646 OTTHUMG00000017958 NG_010766 19123937 PGOHUM00000238723 HGNC:36656 +HGNC:36731 RPL7P38 ribosomal protein L7 pseudogene 38 pseudogene pseudogene Approved 12q21.31 12q21.31 2009-03-06 2013-10-09 120872 ENSG00000239473 OTTHUMG00000157627 NG_010219 19123937 PGOHUM00000258683 HGNC:36731 +HGNC:36214 RPL7P39 ribosomal protein L7 pseudogene 39 pseudogene pseudogene Approved 12q14.3 12q14.3 2009-03-06 2013-10-09 100271217 ENSG00000243020 OTTHUMG00000157607 NG_010581 19123937 PGOHUM00000239497 HGNC:36214 +HGNC:36031 RPL7P40 ribosomal protein L7 pseudogene 40 pseudogene pseudogene Approved 12p12.3 12p12.3 2009-03-06 2013-09-24 100271220 ENSG00000242991 OTTHUMG00000157496 NG_010600 19123937 PGOHUM00000239692 HGNC:36031 +HGNC:36297 RPL7P41 ribosomal protein L7 pseudogene 41 pseudogene pseudogene Approved 12q13.13 12q13.13 2009-03-06 2013-10-09 100271222 ENSG00000241146 OTTHUMG00000157570 NG_010611 19123937 PGOHUM00000239790 HGNC:36297 +HGNC:35543 RPL7P42 ribosomal protein L7 pseudogene 42 pseudogene pseudogene Approved 12q15 12q15 2009-03-06 2017-03-22 100271223 ENSG00000241825 OTTHUMG00000157614 NG_010616 19123937 PGOHUM00000291719 HGNC:35543 +HGNC:36441 RPL7P43 ribosomal protein L7 pseudogene 43 pseudogene pseudogene Approved 12q21.2 12q21.2 2009-03-06 2013-10-09 100271224 ENSG00000241045 OTTHUMG00000157625 NG_010619 19123937 PGOHUM00000239867 HGNC:36441 +HGNC:36143 RPL7P44 ribosomal protein L7 pseudogene 44 pseudogene pseudogene Approved 13q22.3 13q22.3 2009-03-06 2014-11-19 390413 ENSG00000233873 OTTHUMG00000017102 NG_010043 19123937 PGOHUM00000248443 HGNC:36143 +HGNC:35522 RPL7P45 ribosomal protein L7 pseudogene 45 pseudogene pseudogene Approved 13q33.2 13q33.2 2009-03-06 2013-07-31 100271225 ENSG00000225823 OTTHUMG00000017316 NG_010625 19123937 PGOHUM00000258730 HGNC:35522 +HGNC:36706 RPL7P46 ribosomal protein L7 pseudogene 46 pseudogene pseudogene Approved 16p13.13 16p13.13 2009-03-06 2013-10-09 642451 ENSG00000229917 OTTHUMG00000152920 NG_010773 19123937 PGOHUM00000248982 HGNC:36706 +HGNC:35913 RPL7P47 ribosomal protein L7 pseudogene 47 pseudogene pseudogene Approved 16p12.3 16p12.3 2009-03-06 2013-10-09 146110 ENSG00000228071 OTTHUMG00000158115 NG_004804 19123937 PGOHUM00000250676 HGNC:35913 +HGNC:35540 RPL7P48 ribosomal protein L7 pseudogene 48 pseudogene pseudogene Approved 17q21.33 17q21.33 2009-03-06 2013-10-09 388401 ENSG00000187504 OTTHUMG00000157881 NG_010260 19123937 PGOHUM00000259189 HGNC:35540 +HGNC:36912 RPL7P49 ribosomal protein L7 pseudogene 49 pseudogene pseudogene Approved 17q25.1 17q25.1 2009-03-06 2013-10-09 100271221 ENSG00000242931 OTTHUMG00000157946 NG_010606 19123937 PGOHUM00000259198 HGNC:36912 +HGNC:35816 RPL7P50 ribosomal protein L7 pseudogene 50 pseudogene pseudogene Approved 19p13.3 19p13.3 2009-03-06 2013-10-09 729449 ENSG00000268785 OTTHUMG00000157978 NG_010543 19123937 PGOHUM00000259373 HGNC:35816 +HGNC:36432 RPL7P51 ribosomal protein L7 pseudogene 51 pseudogene pseudogene Approved 19q13.41 19q13.41 2009-03-06 2013-10-09 100271226 ENSG00000243469 OTTHUMG00000158219 NG_010631 19123937 PGOHUM00000259417 HGNC:36432 +HGNC:35676 RPL7P52 ribosomal protein L7 pseudogene 52 pseudogene pseudogene Approved 22q13.1 22q13.1 2009-03-06 2013-10-09 646912 ENSG00000228599 OTTHUMG00000151113 NG_009750 19123937 PGOHUM00000246334 HGNC:35676 +HGNC:36831 RPL7P53 ribosomal protein L7 pseudogene 53 pseudogene pseudogene Approved Xq13.2 Xq13.2 2009-03-06 2011-09-20 100271145 ENSG00000237475 OTTHUMG00000021834 NG_010222 19123937 PGOHUM00000241846 HGNC:36831 +HGNC:36817 RPL7P54 ribosomal protein L7 pseudogene 54 pseudogene pseudogene Approved Xq21.1 Xq21.1 2009-03-06 2011-09-20 100271146 ENSG00000227645 OTTHUMG00000021894 NG_010226 19123937 PGOHUM00000241866 HGNC:36817 +HGNC:36105 RPL7P55 ribosomal protein L7 pseudogene 55 pseudogene pseudogene Approved Xq21.32 Xq21.32 2009-03-06 2011-01-17 100271147 ENSG00000228301 OTTHUMG00000021973 NG_010232 19123937 PGOHUM00000241891 HGNC:36105 +HGNC:35588 RPL7P56 ribosomal protein L7 pseudogene 56 pseudogene pseudogene Approved Xq26.3 Xq26.3 2009-03-06 2011-09-20 728962 ENSG00000231164 OTTHUMG00000022513 NG_010676 19123937 PGOHUM00000260989 HGNC:35588 +HGNC:35901 RPL7P57 ribosomal protein L7 pseudogene 57 pseudogene pseudogene Approved Xp11.23 Xp11.23 2009-03-06 2011-01-18 643507 ENSG00000224401 OTTHUMG00000021457 NG_010930 19123937 PGOHUM00000241276 HGNC:35901 +HGNC:49214 RPL7P58 ribosomal protein L7 pseudogene 58 pseudogene pseudogene Approved Xp21.3 Xp21.3 2013-10-09 2013-10-09 646346 ENSG00000216938 OTTHUMG00000021293 NG_009918 PGOHUM00000241679 HGNC:49214 +HGNC:49215 RPL7P59 ribosomal protein L7 pseudogene 59 pseudogene pseudogene Approved 7q35 07q35 2013-10-09 2013-10-09 643308 ENSG00000225918 OTTHUMG00000152721 NG_011222 PGOHUM00000233065 HGNC:49215 +HGNC:49216 RPL7P60 ribosomal protein L7 pseudogene 60 pseudogene pseudogene Approved 7q22.1 07q22.1 2013-10-09 2013-10-09 100289264 ENSG00000214142 OTTHUMG00000154844 NG_030267 PGOHUM00000250894 HGNC:49216 +HGNC:49217 RPL7P61 ribosomal protein L7 pseudogene 61 pseudogene pseudogene Approved 2q24.3 02q24.3 2013-10-09 2013-10-09 101929589 ENSG00000230282 OTTHUMG00000153910 PGOHUM00000240412 HGNC:49217 +HGNC:10368 RPL8 ribosomal protein L8 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 L8 "L ribosomal proteins|MicroRNA protein coding host genes" "729|1691" 1994-05-16 2011-04-06 6132 ENSG00000161016 OTTHUMG00000165249 uc003zec.4 Z28407 NM_000973 CCDS6433 P62917 "7506540|9582194" MGI:1350927 RGD:619827 604177 HGNC:10368 "ENST00000528957.6|NM_001317782.2" HGNC:10368 +HGNC:13980 RPL8P1 ribosomal protein L8 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "RPL2p|dJ15D7.1" RPL8P 2003-11-27 2020-04-07 387046 ENSG00000216676 OTTHUMG00000016339 NG_009559 HGNC:13980 +HGNC:17220 RPL8P2 ribosomal protein L8 pseudogene 2 pseudogene pseudogene Approved 21q22.11 21q22.11 2003-10-02 2013-09-24 100128766 ENSG00000225267 OTTHUMG00000081870 NG_009886 PGOHUM00000239062 HGNC:17220 +HGNC:36407 RPL8P3 ribosomal protein L8 pseudogene 3 pseudogene pseudogene Approved 3q23 03q23 2009-03-06 2009-03-11 100270854 NG_009991 19123937 HGNC:36407 +HGNC:35555 RPL8P4 ribosomal protein L8 pseudogene 4 pseudogene pseudogene Approved 3q26.31 03q26.31 2009-03-06 2009-03-11 402150 NG_011184 19123937 HGNC:35555 +HGNC:35758 RPL8P5 ribosomal protein L8 pseudogene 5 pseudogene pseudogene Approved 22q11.21 22q11.21 2009-03-06 2009-03-11 100271044 NG_011013 19123937 HGNC:35758 +HGNC:10369 RPL9 ribosomal protein L9 protein-coding gene gene with protein product Approved 4p14 04p14 L9 L ribosomal proteins 729 1993-12-07 2021-04-13 6133 ENSG00000163682 OTTHUMG00000099367 uc003guc.4 D14531 NM_000661 CCDS3452 P32969 "8597601|8415001" MGI:1298373 RGD:62049 LRG_1142|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1142.xml 603686 471004 HGNC:10369 "ENST00000295955.14|NM_000661.5" +HGNC:17049 RPL9P2 ribosomal protein L9 pseudogene 2 pseudogene pseudogene Approved 17p12 17p12 2009-03-01 2020-04-20 729004 ENSG00000234324 OTTHUMG00000059068 NG_009558 "9027492|19123937" PGOHUM00000294273 HGNC:17049 +HGNC:23555 RPL9P3 ribosomal protein L9 pseudogene 3 pseudogene pseudogene Approved 14q13.2 14q13.2 2009-03-01 2017-10-30 641616 ENSG00000240392 OTTHUMG00000157758 AL121594 NG_009539 19123937 PGOHUM00000292624 HGNC:23555 +HGNC:23556 RPL9P4 ribosomal protein L9 pseudogene 4 pseudogene pseudogene Approved 14q12 14q12 2009-03-01 2014-11-19 644223 AL163973 NG_009540 19123937 HGNC:23556 +HGNC:23557 RPL9P5 ribosomal protein L9 pseudogene 5 pseudogene pseudogene Approved 14q23.1 14q23.1 2009-03-01 2017-10-30 100129179 ENSG00000239510 OTTHUMG00000157933 AL135752 NG_008795 19123937 PGOHUM00000292683 HGNC:23557 +HGNC:19798 RPL9P6 ribosomal protein L9 pseudogene 6 pseudogene pseudogene Approved 14q31.1 14q31.1 2009-03-01 2017-03-21 326311 ENSG00000241891 OTTHUMG00000158078 NG_002563 19123937 PGOHUM00000292427 HGNC:19798 +HGNC:30335 RPL9P7 ribosomal protein L9 pseudogene 7 pseudogene pseudogene Approved Xp22.11 Xp22.11 "RPL9P1|RPL9L1" "ribosomal protein L9 pseudogene 1|ribosomal protein L9-like 1" 2009-03-01 2010-11-12 2020-04-20 6126 ENSG00000238103 OTTHUMG00000021254 U09955 NG_002471 "8597601|19123937" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPL9P7 HGNC:30335 +HGNC:30334 RPL9P8 ribosomal protein L9 pseudogene 8 pseudogene pseudogene Approved 15q25.2 15q25.2 RPL9P9 ribosomal protein L9 pseudogene 9 2009-03-01 2019-02-27 254948 NG_002468 "8597601|19123937" HGNC:30334 +HGNC:35686 RPL9P10 ribosomal protein L9 pseudogene 10 pseudogene pseudogene Approved 1q42.2 01q42.2 2009-03-06 2009-03-11 100270855 NG_009998 19123937 HGNC:35686 +HGNC:35621 RPL9P11 ribosomal protein L9 pseudogene 11 pseudogene pseudogene Approved 1p36.22 01p36.22 2009-03-06 2009-03-11 642740 NG_006150 19123937 HGNC:35621 +HGNC:36728 RPL9P12 ribosomal protein L9 pseudogene 12 pseudogene pseudogene Approved 1p32.3 01p32.3 2009-03-06 2009-03-11 100270825 NG_011199 19123937 HGNC:36728 +HGNC:36558 RPL9P13 ribosomal protein L9 pseudogene 13 pseudogene pseudogene Approved 2q22.1 02q22.1 2009-03-06 2019-11-21 100270856 ENSG00000228374 NG_010007 19123937 HGNC:36558 +HGNC:36816 RPL9P14 ribosomal protein L9 pseudogene 14 pseudogene pseudogene Approved 2q33.3 02q33.3 2009-03-06 2019-10-16 100132061 ENSG00000185078 NG_011145 19123937 HGNC:36816 +HGNC:35539 RPL9P15 ribosomal protein L9 pseudogene 15 pseudogene pseudogene Approved 3q25.2 03q25.2 2009-03-06 2013-09-24 100270857 ENSG00000240601 OTTHUMG00000157417 NG_010012 19123937 PGOHUM00000237827 HGNC:35539 +HGNC:36851 RPL9P16 ribosomal protein L9 pseudogene 16 pseudogene pseudogene Approved 4q32.3 04q32.3 2009-03-06 2017-10-30 727835 ENSG00000214676 OTTHUMG00000157599 NG_010139 19123937 PGOHUM00000300438 HGNC:36851 +HGNC:36337 RPL9P17 ribosomal protein L9 pseudogene 17 pseudogene pseudogene Approved 5p13.3 05p13.3 2009-03-06 2009-03-11 728523 NG_011050 19123937 HGNC:36337 +HGNC:36954 RPL9P18 ribosomal protein L9 pseudogene 18 pseudogene pseudogene Approved 6q12 06q12 2009-03-06 2017-10-30 389404 ENSG00000213309 OTTHUMG00000014950 NG_010148 19123937 PGOHUM00000301413 HGNC:36954 +HGNC:36688 RPL9P19 ribosomal protein L9 pseudogene 19 pseudogene pseudogene Approved 7p21.3 07p21.3 2009-03-06 2009-03-11 100129634 NG_010510 19123937 HGNC:36688 +HGNC:36996 RPL9P20 ribosomal protein L9 pseudogene 20 pseudogene pseudogene Approved 8p22 08p22 2009-03-06 2009-03-11 100130392 NG_010461 19123937 HGNC:36996 +HGNC:35886 RPL9P21 ribosomal protein L9 pseudogene 21 pseudogene pseudogene Approved 10q11.21 10q11.21 2009-03-06 2016-08-16 728374 ENSG00000214089 OTTHUMG00000018057 NG_010286 19123937 PGOHUM00000289826 HGNC:35886 +HGNC:36994 RPL9P22 ribosomal protein L9 pseudogene 22 pseudogene pseudogene Approved 11q14.1 11q14.1 2009-03-06 2009-03-11 100130066 NG_010079 19123937 HGNC:36994 +HGNC:36807 RPL9P23 ribosomal protein L9 pseudogene 23 pseudogene pseudogene Approved 11p12 11p12 2009-03-06 2009-03-11 100131020 NG_011057 19123937 HGNC:36807 +HGNC:36347 RPL9P24 ribosomal protein L9 pseudogene 24 pseudogene pseudogene Approved 12q23.2 12q23.2 2009-03-06 2009-03-11 100271045 NG_011017 19123937 HGNC:36347 +HGNC:36112 RPL9P25 ribosomal protein L9 pseudogene 25 pseudogene pseudogene Approved 15q22.31 15q22.31 2009-03-06 2017-10-30 654350 ENSG00000240821 OTTHUMG00000157975 NG_010052 19123937 PGOHUM00000292991 HGNC:36112 +HGNC:35633 RPL9P26 ribosomal protein L9 pseudogene 26 pseudogene pseudogene Approved 15q11.2-q12 15q11.2-q12 2009-03-06 2009-03-11 100271227 NG_010635 19123937 HGNC:35633 +HGNC:37012 RPL9P27 ribosomal protein L9 pseudogene 27 pseudogene pseudogene Approved 15q15.1 15q15.1 2009-03-06 2009-03-11 100131246 NG_010904 19123937 HGNC:37012 +HGNC:36445 RPL9P28 ribosomal protein L9 pseudogene 28 pseudogene pseudogene Approved 17q21.32 17q21.32 2009-03-06 2017-10-30 729146 ENSG00000242067 OTTHUMG00000157876 NG_009675 19123937 PGOHUM00000294146 HGNC:36445 +HGNC:35533 RPL9P29 ribosomal protein L9 pseudogene 29 pseudogene pseudogene Approved 17q25.3 17q25.3 2009-03-06 2017-10-30 100129357 ENSG00000267355 OTTHUMG00000157951 NG_010416 19123937 PGOHUM00000294227 HGNC:35533 +HGNC:36316 RPL9P30 ribosomal protein L9 pseudogene 30 pseudogene pseudogene Approved 17q11.2 17q11.2 2009-03-06 2017-10-30 100128710 ENSG00000240074 OTTHUMG00000157781 NG_011028 19123937 PGOHUM00000294374 HGNC:36316 +HGNC:36617 RPL9P31 ribosomal protein L9 pseudogene 31 pseudogene pseudogene Approved 18q21.32 18q21.32 2009-03-06 2017-10-30 100271228 ENSG00000239659 OTTHUMG00000158254 NG_010640 19123937 PGOHUM00000294796 HGNC:36617 +HGNC:36418 RPL9P32 ribosomal protein L9 pseudogene 32 pseudogene pseudogene Approved 19q12 19q12 2009-03-06 2016-07-25 727865 ENSG00000242100 OTTHUMG00000158141 NG_010302 19123937 PGOHUM00000294973 HGNC:36418 +HGNC:36273 RPL9P33 ribosomal protein L9 pseudogene 33 pseudogene pseudogene Approved 19q13.41 19q13.41 2009-03-06 2016-10-05 100271229 ENSG00000244071 OTTHUMG00000158218 NG_010645 19123937 PGOHUM00000234746 HGNC:36273 +HGNC:10298 RPL10 ribosomal protein L10 protein-coding gene gene with protein product Approved Xq28 Xq28 "NOV|QM|DXS648E|DXS648|FLJ23544|L10" "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1998-07-23 2021-05-26 6134 ENSG00000147403 OTTHUMG00000033189 uc033fbd.1 AB007170 NM_006013 "CCDS14746|CCDS76059" P27635 9582194 MGI:105943 RGD:621178 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPL10 RPL10 312173 118393 HGNC:10298 "ENST00000369817.7|NM_006013.5" HGNC:10298 +HGNC:10299 RPL10A ribosomal protein L10a protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "Csa-19|L10A" NEDD6 "L ribosomal proteins|MicroRNA protein coding host genes" "729|1691" 1994-01-21 2015-09-07 4736 ENSG00000198755 OTTHUMG00000014566 uc003okp.2 U12404 NM_007104 CCDS4806 P62906 "7609734|9647638" MGI:1343877 RGD:620497 615660 HGNC:10299 "ENST00000322203.7|NM_007104.5" +HGNC:19813 RPL10AP1 ribosomal protein L10a pseudogene 1 pseudogene pseudogene Approved 14q32.32 14q32.32 2009-03-01 2014-11-18 319135 ENSG00000244691 OTTHUMG00000158148 NG_002513 19123937 PGOHUM00000247900 HGNC:19813 +HGNC:31081 RPL10AP2 ribosomal protein L10a pseudogene 2 pseudogene pseudogene Approved 8q11.1 08q11.1 2009-03-01 2017-10-30 253986 ENSG00000188873 OTTHUMG00000158610 NG_005655 19123937 PGOHUM00000303534 HGNC:31081 +HGNC:29803 RPL10AP3 ribosomal protein L10a pseudogene 3 pseudogene pseudogene Approved 8p12 08p12 HsT23218 2009-03-01 2014-11-18 137107 ENSG00000215264 OTTHUMG00000158593 NG_009498 19123937 PGOHUM00000250005 HGNC:29803 +HGNC:35873 RPL10AP4 ribosomal protein L10a pseudogene 4 pseudogene pseudogene Approved 1p31.1 01p31.1 2009-03-06 2009-03-11 343301 NG_009989 19123937 HGNC:35873 +HGNC:36770 RPL10AP5 ribosomal protein L10a pseudogene 5 pseudogene pseudogene Approved 1q43 01q43 2009-03-06 2014-03-18 645998 ENSG00000235467 OTTHUMG00000039858 NG_009789 19123937 PGOHUM00000245281 HGNC:36770 +HGNC:36504 RPL10AP6 ribosomal protein L10a pseudogene 6 pseudogene pseudogene Approved 3p14.2 03p14.2 2009-03-06 2017-10-30 100128936 ENSG00000226360 OTTHUMG00000157304 NG_010877 19123937 HGNC:36504 +HGNC:35601 RPL10AP7 ribosomal protein L10a pseudogene 7 pseudogene pseudogene Approved 4p15.32 04p15.32 2009-03-06 2009-03-11 100128646 NG_010699 19123937 HGNC:35601 +HGNC:36709 RPL10AP8 ribosomal protein L10a pseudogene 8 pseudogene pseudogene Approved 5q13.2 05q13.2 2009-03-06 2009-03-11 644154 NG_010309 19123937 HGNC:36709 +HGNC:35947 RPL10AP9 ribosomal protein L10a pseudogene 9 pseudogene pseudogene Approved 5q14.3 05q14.3 2009-03-06 2009-03-11 728979 NG_010772 19123937 HGNC:35947 +HGNC:35971 RPL10AP10 ribosomal protein L10a pseudogene 10 pseudogene pseudogene Approved 5q31.2 05q31.2 2009-03-06 2009-03-11 391836 NG_010824 19123937 HGNC:35971 +HGNC:35875 RPL10AP11 ribosomal protein L10a pseudogene 11 pseudogene pseudogene Approved 8p22 08p22 2009-03-06 2009-03-11 392206 NG_010051 19123937 HGNC:35875 +HGNC:36108 RPL10AP12 ribosomal protein L10a pseudogene 12 pseudogene pseudogene Approved 16q24.1 16q24.1 2009-03-06 2009-03-11 401863 NG_009471 19123937 HGNC:36108 +HGNC:36155 RPL10AP13 ribosomal protein L10a pseudogene 13 pseudogene pseudogene Approved 18q12 18q12 2009-03-06 2009-03-11 100271602 NG_011250 19123937 HGNC:36155 +HGNC:17976 RPL10L ribosomal protein L10 like protein-coding gene gene with protein product Approved 14q21.2 14q21.2 ribosomal protein L10-like L ribosomal proteins 729 2009-03-01 2015-11-17 2015-11-17 140801 ENSG00000165496 OTTHUMG00000157869 uc001wwg.5 AB063608 NM_080746 CCDS32071 Q96L21 19123937 MGI:3647985 RGD:1305913 619655 HGNC:17976 "ENST00000298283.5|NM_080746.3" +HGNC:10300 RPL10P1 ribosomal protein L10 pseudogene 1 pseudogene pseudogene Approved 21q21.3 21q21.3 RPL10P ribosomal protein L10 pseudogene 2009-03-01 2001-12-14 2001-12-07 2016-07-25 100288252 ENSG00000217026 OTTHUMG00000078695 NG_000911 19123937 PGOHUM00000297240 HGNC:10300 +HGNC:13975 RPL10P2 ribosomal protein L10 pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 "RPL10p|bA209A2.1" 2009-03-01 2016-07-25 442171 ENSG00000174572 OTTHUMG00000014474 NG_009499 19123937 PGOHUM00000301698 HGNC:13975 +HGNC:23300 RPL10P3 ribosomal protein L10 pseudogene 3 pseudogene pseudogene Approved 9q33.1 09q33.1 bA567J2.2 2005-10-06 2016-07-25 619445 ENSG00000230734 OTTHUMG00000020559 NG_021409 PGOHUM00000304042 HGNC:23300 +HGNC:52342 RPL10P4 ribosomal protein L10 pseudogene 4 pseudogene pseudogene Approved 1q32.1 01q32.1 2016-07-25 2016-10-05 391151 ENSG00000238003 OTTHUMG00000035803 NG_005105 PGOHUM00000296723 HGNC:52342 +HGNC:35724 RPL10P5 ribosomal protein L10 pseudogene 5 pseudogene pseudogene Approved 2q13 02q13 2009-03-06 2016-07-25 644911 ENSG00000235644 OTTHUMG00000153421 NG_010252 19123937 PGOHUM00000298060 HGNC:35724 +HGNC:52343 RPL10P6 ribosomal protein L10 pseudogene 6 pseudogene pseudogene Approved 2q35 02q35 2016-07-25 2016-07-25 285176 ENSG00000230076 OTTHUMG00000154802 NG_009924 PGOHUM00000298876 HGNC:52343 +HGNC:35974 RPL10P7 ribosomal protein L10 pseudogene 7 pseudogene pseudogene Approved 3q13.33 03q13.33 2009-03-06 2016-07-25 442086 ENSG00000242052 OTTHUMG00000157355 NG_011185 19123937 PGOHUM00000299145 HGNC:35974 +HGNC:52344 RPL10P8 ribosomal protein L10 pseudogene 8 pseudogene pseudogene Approved 5q35.1 05q35.1 2016-07-25 2016-07-25 644937 ENSG00000254012 OTTHUMG00000163205 NG_009908 PGOHUM00000301181 HGNC:52344 +HGNC:35579 RPL10P9 ribosomal protein L10 pseudogene 9 pseudogene pseudogene Approved 5q34 05q34 2009-03-06 2016-07-25 389342 ENSG00000233913 OTTHUMG00000157935 NG_011151 19123937 HGNC:35579 +HGNC:35486 RPL10P10 ribosomal protein L10 pseudogene 10 pseudogene pseudogene Approved 6p12.1 06p12.1 2009-03-06 2016-07-25 100129930 ENSG00000216347 OTTHUMG00000014896 NG_010721 19123937 PGOHUM00000301392 HGNC:35486 +HGNC:36565 RPL10P11 ribosomal protein L10 pseudogene 11 pseudogene pseudogene Approved 7q21.11 07q21.11 2009-03-06 2016-07-25 100128030 ENSG00000230853 OTTHUMG00000156444 NG_010158 19123937 PGOHUM00000302329 HGNC:36565 +HGNC:52345 RPL10P12 ribosomal protein L10 pseudogene 12 pseudogene pseudogene Approved 12q15 12q15 2016-07-25 2016-07-25 645422 ENSG00000234040 OTTHUMG00000169262 NG_009853 PGOHUM00000291396 HGNC:52345 +HGNC:52346 RPL10P13 ribosomal protein L10 pseudogene 13 pseudogene pseudogene Approved 12q21.2 12q21.2 2016-07-25 2016-07-25 390345 ENSG00000258245 OTTHUMG00000169778 NG_009872 PGOHUM00000291407 HGNC:52346 +HGNC:43897 RPL10P14 ribosomal protein L10 pseudogene 14 pseudogene pseudogene Approved 16q12.1 16q12.1 2012-04-27 2016-07-25 390729 ENSG00000260031 OTTHUMG00000158143 NG_009909 PGOHUM00000293609 HGNC:43897 +HGNC:52347 RPL10P15 ribosomal protein L10 pseudogene 15 pseudogene pseudogene Approved 19p13.2 19p13.2 2016-07-25 2016-07-25 100129975 ENSG00000267119 OTTHUMG00000180213 NG_009916 PGOHUM00000295190 HGNC:52347 +HGNC:36882 RPL10P16 ribosomal protein L10 pseudogene 16 pseudogene pseudogene Approved 19p13.13 19p13.13 2009-03-06 2016-07-25 284393 ENSG00000178464 OTTHUMG00000156400 NG_011204 19123937 HGNC:36882 +HGNC:52348 RPL10P17 ribosomal protein L10 pseudogene 17 pseudogene pseudogene Approved 1p36.22 01p36.22 2016-07-26 2016-07-26 390998 ENSG00000225196 OTTHUMG00000004233 NG_023275 PGOHUM00000295547 HGNC:52348 +HGNC:52349 RPL10P18 ribosomal protein L10 pseudogene 18 pseudogene pseudogene Approved 8p12 08p12 2016-07-28 2016-07-28 100630920 ENSG00000253995 OTTHUMG00000163959 NG_029179 PGOHUM00000303503 HGNC:52349 +HGNC:52350 RPL10P19 ribosomal protein L10 pseudogene 19 pseudogene pseudogene Approved 8p23.1 08p23.1 2016-07-26 2016-07-26 645960 ENSG00000233609 OTTHUMG00000163695 NG_029128 PGOHUM00000303445 HGNC:52350 +HGNC:10301 RPL11 ribosomal protein L11 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "L11|uL5" 60S ribosomal protein L11 L ribosomal proteins 729 1998-07-23 2021-05-26 6135 ENSG00000142676 OTTHUMG00000002926 uc001bhk.5 L05092 NM_000975 "CCDS85940|CCDS238" P62913 "9582194|10343117" MGI:1914275 RGD:1308681 "Diamond-Blackfan Anemia|http://www.dbagenes.unito.it/home.php?select_db=RPL11|LRG_1140|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1140.xml" 604175 171055 HGNC:10301 "ENST00000643754.2|NM_000975.5" HGNC:10301 +HGNC:37021 RPL11P1 ribosomal protein L11 pseudogene 1 pseudogene pseudogene Approved 2p14 02p14 2009-03-06 2019-12-20 100133170 ENSG00000227394 NG_010269 19123937 HGNC:37021 +HGNC:36983 RPL11P2 ribosomal protein L11 pseudogene 2 pseudogene pseudogene Approved 5q23.3 05q23.3 2009-03-06 2009-03-11 133629 NG_009748 19123937 HGNC:36983 +HGNC:36342 RPL11P3 ribosomal protein L11 pseudogene 3 pseudogene pseudogene Approved 10q23.31 10q23.31 2009-03-06 2016-08-16 100271271 ENSG00000213613 OTTHUMG00000018687 NG_010870 19123937 PGOHUM00000290238 HGNC:36342 +HGNC:36137 RPL11P4 ribosomal protein L11 pseudogene 4 pseudogene pseudogene Approved 10q23.33 10q23.33 2009-03-06 2016-08-16 100271272 ENSG00000184111 OTTHUMG00000018760 NG_010874 19123937 PGOHUM00000289952 HGNC:36137 +HGNC:36849 RPL11P5 ribosomal protein L11 pseudogene 5 pseudogene pseudogene Approved 12q24.31 12q24.31 2009-03-06 2017-10-30 643499 ENSG00000242137 OTTHUMG00000157800 NG_009723 19123937 PGOHUM00000291478 HGNC:36849 +HGNC:10302 RPL12 ribosomal protein L12 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 L12 "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1993-05-14 2016-10-05 6136 ENSG00000197958 OTTHUMG00000020704 uc004bqy.3 NM_000976 CCDS6872 P30050 8441690 MGI:98002 RGD:1565106 180475 HGNC:10302 "ENST00000361436.10|NM_000976.4" +HGNC:13976 RPL12P1 ribosomal protein L12 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 "RPL12-L|dJ570F3.5|CICK0721Q.1" 2009-03-01 2014-11-19 729727 ENSG00000204194 OTTHUMG00000031256 NG_006554 19123937 HGNC:13976 +HGNC:16070 RPL12P2 ribosomal protein L12 pseudogene 2 pseudogene pseudogene Approved 6p21.2 06p21.2 dJ441G21.1 2009-03-01 2015-10-07 646875 ENSG00000216412 OTTHUMG00000014617 NG_009503 19123937 PGOHUM00000301781 HGNC:16070 +HGNC:16335 RPL12P3 ribosomal protein L12 pseudogene 3 pseudogene pseudogene Approved 20q11.21 20q11.21 bA49G10.7 2009-03-01 2015-10-07 128862 ENSG00000233106 OTTHUMG00000032250 AL121901 NG_000978 19123937 PGOHUM00000296975 HGNC:16335 +HGNC:16587 RPL12P4 ribosomal protein L12 pseudogene 4 pseudogene pseudogene Approved 20q13.2 20q13.2 dJ800C24.1 2009-03-01 2015-10-07 116149 ENSG00000185834 OTTHUMG00000032779 AL121593 NG_000962 19123937 PGOHUM00000297145 HGNC:16587 +HGNC:19669 RPL12P5 ribosomal protein L12 pseudogene 5 pseudogene pseudogene Approved 14q12 14q12 2009-03-01 2015-10-07 319142 ENSG00000243855 OTTHUMG00000157709 NG_002518 19123937 PGOHUM00000292611 HGNC:19669 +HGNC:23538 RPL12P6 ribosomal protein L12 pseudogene 6 pseudogene pseudogene Approved 14q13.1 14q13.1 2009-03-01 2015-10-07 440176 ENSG00000243824 OTTHUMG00000158031 NG_009696 19123937 PGOHUM00000292319 HGNC:23538 +HGNC:19782 RPL12P7 ribosomal protein L12 pseudogene 7 pseudogene pseudogene Approved 14q24.1 14q24.1 2009-03-01 2015-10-07 326275 ENSG00000242941 OTTHUMG00000157970 NG_002535 19123937 PGOHUM00000292711 HGNC:19782 +HGNC:23735 RPL12P8 ribosomal protein L12 pseudogene 8 pseudogene pseudogene Approved 10q21.3 10q21.3 bA57G10.3 2009-03-01 2015-10-07 645161 ENSG00000219932 OTTHUMG00000018337 NG_006101 19123937 PGOHUM00000290189 HGNC:23735 +HGNC:23766 RPL12P9 ribosomal protein L12 pseudogene 9 pseudogene pseudogene Approved 21q21.3 21q21.3 2009-03-01 2015-10-07 654376 ENSG00000232687 OTTHUMG00000155485 AF129075 NG_009547 19123937 PGOHUM00000297244 HGNC:23766 +HGNC:22583 RPL12P10 ribosomal protein L12 pseudogene 10 pseudogene pseudogene Approved 7p15.3 07p15.3 TCAG_1783340 2009-03-01 2015-10-07 392872 ENSG00000226279 OTTHUMG00000152581 AC005682 NG_005576 19123937 PGOHUM00000302549 HGNC:22583 +HGNC:15835 RPL12P11 ribosomal protein L12 pseudogene 11 pseudogene pseudogene Approved 20q12 20q12 dJ661I20.1 RPL12L2 ribosomal protein L12-like 2 2009-03-01 2009-01-23 2009-03-02 2015-10-07 128467 ENSG00000232493 OTTHUMG00000032488 AL031669 NG_000964 19123937 PGOHUM00000297122 HGNC:15835 +HGNC:15951 RPL12P12 ribosomal protein L12 pseudogene 12 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ999L4.1 RPL12L3 ribosomal protein L12-like 3 2009-03-01 2009-01-23 2009-03-02 2015-10-07 85824 ENSG00000236992 OTTHUMG00000031995 NG_000945 19123937 HGNC:15951 +HGNC:51936 RPL12P13 ribosomal protein L12 pseudogene 13 pseudogene pseudogene Approved 1p36.11 01p36.11 2015-10-07 2015-10-07 100129926 ENSG00000172746 OTTHUMG00000004274 NG_009912 PGOHUM00000296255 HGNC:51936 +HGNC:36495 RPL12P14 ribosomal protein L12 pseudogene 14 pseudogene pseudogene Approved 1p36.21 01p36.21 2009-03-06 2015-10-07 729500 ENSG00000224321 OTTHUMG00000003108 NG_010822 19123937 PGOHUM00000296225 HGNC:36495 +HGNC:36619 RPL12P15 ribosomal protein L12 pseudogene 15 pseudogene pseudogene Approved 2q14.3 02q14.3 2009-03-06 2015-10-07 100270920 ENSG00000230993 OTTHUMG00000155143 NG_010384 19123937 PGOHUM00000298089 HGNC:36619 +HGNC:36926 RPL12P16 ribosomal protein L12 pseudogene 16 pseudogene pseudogene Approved 2q33.2 02q33.2 2009-03-06 2015-10-07 100130447 ENSG00000204196 OTTHUMG00000155492 NG_010751 19123937 HGNC:36926 +HGNC:36263 RPL12P17 ribosomal protein L12 pseudogene 17 pseudogene pseudogene Approved 2q33.3 02q33.3 2009-03-06 2015-10-07 344471 ENSG00000224839 OTTHUMG00000154788 NG_010797 19123937 PGOHUM00000298303 HGNC:36263 +HGNC:36750 RPL12P18 ribosomal protein L12 pseudogene 18 pseudogene pseudogene Approved 2p11.2 02p11.2 2009-03-06 2015-10-07 729760 ENSG00000213400 OTTHUMG00000152921 NG_010841 19123937 PGOHUM00000298494 HGNC:36750 +HGNC:36248 RPL12P19 ribosomal protein L12 pseudogene 19 pseudogene pseudogene Approved 2p21 02p21 2009-03-06 2015-10-07 100129982 ENSG00000226972 OTTHUMG00000152783 NG_009586 19123937 PGOHUM00000298425 HGNC:36248 +HGNC:36968 RPL12P20 ribosomal protein L12 pseudogene 20 pseudogene pseudogene Approved 4p13 04p13 2009-03-06 2015-10-07 100270923 ENSG00000239627 OTTHUMG00000157453 NG_010400 19123937 PGOHUM00000300186 HGNC:36968 +HGNC:36845 RPL12P21 ribosomal protein L12 pseudogene 21 pseudogene pseudogene Approved 5q31.2 05q31.2 2009-03-06 2016-10-05 100270921 ENSG00000242683 OTTHUMG00000157868 NG_010390 19123937 PGOHUM00000300771 HGNC:36845 +HGNC:35762 RPL12P22 ribosomal protein L12 pseudogene 22 pseudogene pseudogene Approved 5q35.2 05q35.2 2009-03-06 2015-10-07 100270922 ENSG00000253109 OTTHUMG00000157945 NG_010396 19123937 PGOHUM00000300825 HGNC:35762 +HGNC:36408 RPL12P23 ribosomal protein L12 pseudogene 23 pseudogene pseudogene Approved 6q27 06q27 2009-03-06 2015-10-07 100270925 ENSG00000218716 OTTHUMG00000016074 NG_010412 19123937 PGOHUM00000302019 HGNC:36408 +HGNC:35952 RPL12P24 ribosomal protein L12 pseudogene 24 pseudogene pseudogene Approved 8q23.1 08q23.1 2009-03-06 2015-10-07 100270924 ENSG00000243601 OTTHUMG00000158681 NG_010406 19123937 PGOHUM00000303346 HGNC:35952 +HGNC:37008 RPL12P25 ribosomal protein L12 pseudogene 25 pseudogene pseudogene Approved 9p24.3 09p24.3 2009-03-06 2015-10-07 100270926 ENSG00000235330 OTTHUMG00000019430 NG_010417 19123937 PGOHUM00000304072 HGNC:37008 +HGNC:36811 RPL12P26 ribosomal protein L12 pseudogene 26 pseudogene pseudogene Approved 10q25.3 10q25.3 2009-03-06 2015-10-07 100271404 ENSG00000236171 OTTHUMG00000019118 NG_010240 19123937 PGOHUM00000289999 HGNC:36811 +HGNC:36916 RPL12P27 ribosomal protein L12 pseudogene 27 pseudogene pseudogene Approved 10q24.1 10q24.1 2009-03-06 2015-10-07 644202 ENSG00000237169 OTTHUMG00000018849 NG_010551 19123937 PGOHUM00000289969 HGNC:36916 +HGNC:36818 RPL12P28 ribosomal protein L12 pseudogene 28 pseudogene pseudogene Approved 10p15.1 10p15.1 2009-03-06 2015-10-07 100271273 ENSG00000240180 OTTHUMG00000017606 NG_010880 19123937 HGNC:36818 +HGNC:35791 RPL12P29 ribosomal protein L12 pseudogene 29 pseudogene pseudogene Approved 10q23.1 10q23.1 2009-03-06 2015-10-07 100271274 ENSG00000233189 OTTHUMG00000018639 NG_010886 19123937 PGOHUM00000289935 HGNC:35791 +HGNC:35970 RPL12P30 ribosomal protein L12 pseudogene 30 pseudogene pseudogene Approved 11p14.1 11p14.1 2009-03-06 2015-10-07 100271405 ENSG00000242353 OTTHUMG00000158338 NG_010243 19123937 PGOHUM00000290861 HGNC:35970 +HGNC:37025 RPL12P31 ribosomal protein L12 pseudogene 31 pseudogene pseudogene Approved 11p13 11p13 2009-03-06 2015-10-07 100271406 ENSG00000241228 OTTHUMG00000158347 NG_010248 19123937 PGOHUM00000290437 HGNC:37025 +HGNC:36597 RPL12P32 ribosomal protein L12 pseudogene 32 pseudogene pseudogene Approved 12p11.21 12p11.21 2009-03-06 2015-10-07 100132795 ENSG00000242314 OTTHUMG00000157529 NG_010966 19123937 PGOHUM00000291611 HGNC:36597 +HGNC:35696 RPL12P33 ribosomal protein L12 pseudogene 33 pseudogene pseudogene Approved 12q24.31 12q24.31 2009-03-06 2015-10-07 643550 ENSG00000244585 OTTHUMG00000169146 NG_011149 19123937 PGOHUM00000291823 HGNC:35696 +HGNC:36168 RPL12P34 ribosomal protein L12 pseudogene 34 pseudogene pseudogene Approved 13q21.33 13q21.33 2009-03-06 2015-10-07 100271407 ENSG00000229824 OTTHUMG00000017049 NG_010251 19123937 PGOHUM00000292183 HGNC:36168 +HGNC:35969 RPL12P35 ribosomal protein L12 pseudogene 35 pseudogene pseudogene Approved 15q23 15q23 2009-03-06 2015-10-07 400389 ENSG00000243007 OTTHUMG00000158018 NG_009987 19123937 PGOHUM00000293003 HGNC:35969 +HGNC:36598 RPL12P36 ribosomal protein L12 pseudogene 36 pseudogene pseudogene Approved 16q21 16q21 2009-03-06 2015-10-07 100271408 ENSG00000242423 OTTHUMG00000158154 NG_010255 19123937 PGOHUM00000293883 HGNC:36598 +HGNC:35565 RPL12P37 ribosomal protein L12 pseudogene 37 pseudogene pseudogene Approved 17q25.3 17q25.3 2009-03-06 2015-10-07 100129801 ENSG00000240270 OTTHUMG00000157963 NG_010016 19123937 PGOHUM00000294556 HGNC:35565 +HGNC:36838 RPL12P38 ribosomal protein L12 pseudogene 38 pseudogene pseudogene Approved 17q23.2 17q23.2 2009-03-06 2015-10-07 645688 ENSG00000213228 OTTHUMG00000157897 NG_010298 19123937 PGOHUM00000294172 HGNC:36838 +HGNC:35976 RPL12P39 ribosomal protein L12 pseudogene 39 pseudogene pseudogene Approved 18q22.1 18q22.1 2009-03-06 2015-10-07 100271410 ENSG00000237314 OTTHUMG00000060595 NG_010266 19123937 PGOHUM00000294813 HGNC:35976 +HGNC:36439 RPL12P40 ribosomal protein L12 pseudogene 40 pseudogene pseudogene Approved 18q12.2 18q12.2 2009-03-06 2015-10-07 646898 ENSG00000243516 OTTHUMG00000158235 NG_009756 19123937 PGOHUM00000294769 HGNC:36439 +HGNC:35999 RPL12P41 ribosomal protein L12 pseudogene 41 pseudogene pseudogene Approved 19q13.32 19q13.32 2009-03-06 2015-10-07 100133139 ENSG00000269637 OTTHUMG00000182499 NG_010084 19123937 PGOHUM00000295393 HGNC:35999 +HGNC:36165 RPL12P42 ribosomal protein L12 pseudogene 42 pseudogene pseudogene Approved 19p13.13 19p13.13 2009-03-06 2015-10-07 100129394 ENSG00000213253 OTTHUMG00000158033 NG_010590 19123937 PGOHUM00000294883 HGNC:36165 +HGNC:35840 RPL12P43 ribosomal protein L12 pseudogene 43 pseudogene pseudogene Approved Xq24 Xq24 2009-03-06 2015-10-07 100271387 ENSG00000234524 OTTHUMG00000040069 NG_010137 19123937 PGOHUM00000305272 HGNC:35840 +HGNC:44603 RPL12P44 ribosomal protein L12 pseudogene 44 pseudogene pseudogene Approved 3p21.31 03p21.31 2012-11-19 2015-10-07 100419392 ENSG00000227123 OTTHUMG00000156997 NG_025693 PGOHUM00000299423 HGNC:44603 +HGNC:51937 RPL12P45 ribosomal protein L12 pseudogene 45 pseudogene pseudogene Approved 1p34.3 01p34.3 2015-10-07 2015-10-07 100419477 ENSG00000233940 OTTHUMG00000004160 NG_027077 PGOHUM00000296277 HGNC:51937 +HGNC:51938 RPL12P46 ribosomal protein L12 pseudogene 46 pseudogene pseudogene Approved 11q23.3 11q23.3 2015-10-07 2020-04-06 107075251 ENSG00000255903 OTTHUMG00000168239 NG_046546 PGOHUM00000291144 HGNC:51938 +HGNC:51939 RPL12P47 ribosomal protein L12 pseudogene 47 pseudogene pseudogene Approved 6p21.1 06p21.1 2015-10-07 2020-04-06 107075115 ENSG00000219222 OTTHUMG00000014728 NG_046547 PGOHUM00000301797 HGNC:51939 +HGNC:51940 RPL12P48 ribosomal protein L12 pseudogene 48 pseudogene pseudogene Approved 8p11.23 08p11.23 2015-10-07 2015-10-07 101926938 ENSG00000270865 OTTHUMG00000184791 PGOHUM00000303510 HGNC:51940 +HGNC:51941 RPL12P49 ribosomal protein L12 pseudogene 49 pseudogene pseudogene Approved Xp22.2 Xp22.2 2015-10-07 2015-10-07 107075252 ENSG00000230180 OTTHUMG00000021195 NG_016267 PGOHUM00000304955 +HGNC:51942 RPL12P50 ribosomal protein L12 pseudogene 50 pseudogene pseudogene Approved Xq28 Xq28 2015-10-07 2020-04-06 107075212 ENSG00000270916 OTTHUMG00000185066 NG_054739 PGOHUM00000304901 HGNC:51942 +HGNC:10303 RPL13 ribosomal protein L13 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "D16S444E|BBC1|L13" breast basic conserved 1 "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1998-07-23 2019-04-15 6137 ENSG00000167526 OTTHUMG00000133770 uc002fnm.3 AB007172 NM_000977 "CCDS10979|CCDS58492" P26373 9582194 MGI:105922 RGD:621179 113703 HGNC:10303 "ENST00000311528.10|NM_000977.4" HGNC:10303 +HGNC:10304 RPL13A ribosomal protein L13a protein-coding gene gene with protein product Approved 19q13.33 19q13.33 L13A TSTA1 tissue specific transplantation antigen 1 L ribosomal proteins 729 1999-10-12 2016-10-05 23521 ENSG00000142541 OTTHUMG00000134289 uc002pny.5 X56932 NM_001270491 "CCDS12768|CCDS74421" P40429 MGI:1351455 RGD:628697 619225 HGNC:10304 "ENST00000391857.9|NM_012423.4" +HGNC:13977 RPL13AP ribosomal protein L13a pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 dJ271M21.3 2009-03-01 2020-05-04 387043 ENSG00000231301 OTTHUMG00000031039 NG_011172 19123937 PGOHUM00000301729 HGNC:13977 +HGNC:19675 RPL13AP2 ribosomal protein L13a pseudogene 2 pseudogene pseudogene Approved 14q21.3 14q21.3 2009-03-01 2017-10-30 326278 ENSG00000244053 OTTHUMG00000157872 NG_002538 19123937 PGOHUM00000292345 HGNC:19675 +HGNC:23539 RPL13AP3 ribosomal protein L13a pseudogene 3 pseudogene pseudogene Approved 14q22.3 14q22.3 2009-03-01 2014-11-18 645683 ENSG00000177350 OTTHUMG00000158048 AL355773 NG_009565 Q6NVV1 19123937 HGNC:23539 +HGNC:23736 RPL13AP5 ribosomal protein L13a pseudogene 5 pseudogene pseudogene Approved 10q24.1 10q24.1 bA196N24.2 2009-03-01 2016-08-17 728658 ENSG00000236552 OTTHUMG00000018837 NR_026712 19123937 HGNC:23736 +HGNC:23737 RPL13AP6 ribosomal protein L13a pseudogene 6 pseudogene pseudogene Approved 10q25.2 10q25.2 bA348N5.5 2009-03-01 2016-08-17 644511 ENSG00000234118 OTTHUMG00000019049 NR_026715 19123937 PGOHUM00000289990 HGNC:23737 +HGNC:23755 RPL13AP7 ribosomal protein L13a pseudogene 7 pseudogene pseudogene Approved 21q21.2 21q21.2 2009-03-01 2014-11-18 284821 ENSG00000213885 OTTHUMG00000078369 NG_009777 19123937 PGOHUM00000239157 HGNC:23755 +HGNC:36966 RPL13AP8 ribosomal protein L13a pseudogene 8 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2009-03-11 727831 NG_009083 19123937 HGNC:36966 +HGNC:36341 RPL13AP9 ribosomal protein L13a pseudogene 9 pseudogene pseudogene Approved 1p31.3 01p31.3 2009-03-06 2009-03-11 100271137 NG_010176 19123937 HGNC:36341 +HGNC:36864 RPL13AP10 ribosomal protein L13a pseudogene 10 pseudogene pseudogene Approved 1p13.2 01p13.2 2009-03-06 2009-03-11 100132906 NG_010229 19123937 HGNC:36864 +HGNC:36566 RPL13AP11 ribosomal protein L13a pseudogene 11 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2009-03-11 100271276 NG_010895 19123937 HGNC:36566 +HGNC:35673 RPL13AP12 ribosomal protein L13a pseudogene 12 pseudogene pseudogene Approved 2q33-q34 02q33-q34 2009-03-06 2019-10-17 100271277 ENSG00000236047 NG_010898 19123937 HGNC:35673 +HGNC:36541 RPL13AP13 ribosomal protein L13a pseudogene 13 pseudogene pseudogene Approved 5q11.2 05q11.2 2009-03-06 2009-03-11 402214 NG_010205 19123937 HGNC:36541 +HGNC:36360 RPL13AP14 ribosomal protein L13a pseudogene 14 pseudogene pseudogene Approved 5q14.3 05q14.3 2009-03-06 2009-03-11 100271278 NG_010902 19123937 HGNC:36360 +HGNC:36883 RPL13AP15 ribosomal protein L13a pseudogene 15 pseudogene pseudogene Approved 6q22 06q22 2009-03-06 2009-03-11 100271279 NG_010909 19123937 HGNC:36883 +HGNC:35722 RPL13AP16 ribosomal protein L13a pseudogene 16 pseudogene pseudogene Approved 7q22.2 07q22.2 2009-03-06 2009-03-11 100129553 NG_010071 19123937 HGNC:35722 +HGNC:36167 RPL13AP17 ribosomal protein L13a pseudogene 17 pseudogene pseudogene Approved 7q21.11 07q21.11 2009-03-06 2014-11-18 399670 ENSG00000231322 OTTHUMG00000155514 NR_003680 19123937 HGNC:36167 +HGNC:36593 RPL13AP18 ribosomal protein L13a pseudogene 18 pseudogene pseudogene Approved 8q21.13 08q21.13 2009-03-06 2009-03-11 402342 NG_010866 19123937 HGNC:36593 +HGNC:35855 RPL13AP19 ribosomal protein L13a pseudogene 19 pseudogene pseudogene Approved 10q11.23 10q11.23 2009-03-06 2016-08-17 100132924 ENSG00000228754 OTTHUMG00000018177 NG_010319 19123937 PGOHUM00000289858 HGNC:35855 +HGNC:35709 RPL13AP20 ribosomal protein L13a pseudogene 20 pseudogene pseudogene Approved 12p13.1 12p13.1 HANR HCC associated long non-coding RNA 2009-03-06 2020-02-13 387841 ENSG00000234498 NR_003932 "19123937|29055955" HGNC:35709 +HGNC:35654 RPL13AP21 ribosomal protein L13a pseudogene 21 pseudogene pseudogene Approved 12q13.11 12q13.11 2009-03-06 2009-03-11 100129799 NG_010004 19123937 HGNC:35654 +HGNC:35825 RPL13AP22 ribosomal protein L13a pseudogene 22 pseudogene pseudogene Approved 12p11.21 12p11.21 2009-03-06 2009-03-11 441632 NG_010172 19123937 HGNC:35825 +HGNC:36498 RPL13AP23 ribosomal protein L13a pseudogene 23 pseudogene pseudogene Approved 12q13.3 12q13.3 2009-03-06 2016-10-05 441641 ENSG00000242990 OTTHUMG00000157582 NG_010224 19123937 PGOHUM00000291692 HGNC:36498 +HGNC:36209 RPL13AP24 ribosomal protein L13a pseudogene 24 pseudogene pseudogene Approved 12p13.3-p13.2 12p13.3-p13.2 2009-03-06 2009-03-11 100271603 NG_011259 19123937 HGNC:36209 +HGNC:36981 RPL13AP25 ribosomal protein L13a pseudogene 25 pseudogene pseudogene Approved 13q14.3 13q14.3 2009-03-06 2014-11-18 100287887 ENSG00000136149 OTTHUMG00000016985 NG_012730 19123937 HGNC:36981 +HGNC:35492 RPL13AP26 ribosomal protein L13a pseudogene 26 pseudogene pseudogene Approved 22q12.2 22q12.2 2009-03-06 2009-03-11 729212 NG_010641 19123937 HGNC:35492 +HGNC:13978 RPL13P ribosomal protein L13 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "BBC1p|dJ111M5.1" 2009-03-01 2017-10-30 387044 ENSG00000213916 OTTHUMG00000031243 NG_009510 19123937 PGOHUM00000301719 HGNC:13978 +HGNC:16342 RPL13P2 ribosomal protein L13 pseudogene 2 pseudogene pseudogene Approved 20q13.12 20q13.12 dJ599F21.2 RPL13P3 ribosomal protein L13 pseudogene 3 2009-03-01 2002-01-15 2016-07-25 128500 ENSG00000213820 OTTHUMG00000032642 NG_000966 19123937 PGOHUM00000297128 HGNC:16342 +HGNC:31027 RPL13P4 ribosomal protein L13 pseudogene 4 pseudogene pseudogene Approved 15q24.2 15q24.2 HsT16723 2009-03-01 2017-10-30 654383 ENSG00000241890 OTTHUMG00000158030 AC105137 NG_009554 19123937 PGOHUM00000293298 HGNC:31027 +HGNC:30363 RPL13P5 ribosomal protein L13 pseudogene 5 pseudogene pseudogene Approved 12p13.31 12p13.31 RPL13-2 RPL13L ribosomal protein L13-like 2009-03-01 2009-01-23 2009-01-23 2014-11-19 283345 ENSG00000240370 U72513 NR_002803 19123937 HGNC:30363 +HGNC:19809 RPL13P6 ribosomal protein L13 pseudogene 6 pseudogene pseudogene Approved 14q32.32 14q32.32 RPL13AP4 ribosomal protein L13a pseudogene 4 2009-03-01 2009-02-20 2009-02-20 2014-11-18 100129176 ENSG00000213176 OTTHUMG00000158135 NG_010805 19123937 PGOHUM00000248271 HGNC:19809 +HGNC:35510 RPL13P7 ribosomal protein L13 pseudogene 7 pseudogene pseudogene Approved 1q25.2 01q25.2 2009-03-06 2009-03-11 391140 NG_011178 19123937 HGNC:35510 +HGNC:35513 RPL13P8 ribosomal protein L13 pseudogene 8 pseudogene pseudogene Approved 3q13.13 03q13.13 2009-03-06 2009-03-11 100270928 NG_010428 19123937 HGNC:35513 +HGNC:36587 RPL13P9 ribosomal protein L13 pseudogene 9 pseudogene pseudogene Approved 5q13-q14 05q13-q14 2009-03-06 2009-03-11 100270927 NG_010421 19123937 HGNC:36587 +HGNC:35943 RPL13P10 ribosomal protein L13 pseudogene 10 pseudogene pseudogene Approved 5q35.3 05q35.3 2009-03-06 2009-03-11 100133108 NG_011268 19123937 HGNC:35943 +HGNC:35805 RPL13P11 ribosomal protein L13 pseudogene 11 pseudogene pseudogene Approved 8q13.3 08q13.3 2009-03-06 2009-03-11 100130225 NG_010921 19123937 HGNC:35805 +HGNC:35701 RPL13P12 ribosomal protein L13 pseudogene 12 pseudogene pseudogene Approved 17p11.2 17p11.2 2009-03-06 2017-10-30 388344 ENSG00000215030 OTTHUMG00000059294 NG_007541 19123937 HGNC:35701 +HGNC:36832 RPL13P13 ribosomal protein L13 pseudogene 13 pseudogene pseudogene Approved 19q13.43 19q13.43 2009-03-06 2009-03-11 100129796 NG_009982 19123937 HGNC:36832 +HGNC:36387 RPL13P14 ribosomal protein L13 pseudogene 14 pseudogene pseudogene Approved 20q13.12 20q13.12 2009-03-06 2009-03-11 100130374 NG_010376 19123937 HGNC:36387 +HGNC:10305 RPL14 ribosomal protein L14 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "L14|hRL14|RL14|CTG-B33" "CAG-ISL 7|60S ribosomal protein L14" L ribosomal proteins 729 1999-01-26 2016-10-05 9045 ENSG00000188846 OTTHUMG00000156046 uc003ckg.5 D87735 NM_003973 "CCDS33739|CCDS43070" P50914 9480843 MGI:1914365 RGD:621180 617414 HGNC:10305 "ENST00000396203.7|NM_001034996.3" +HGNC:31384 RPL14P1 ribosomal protein L14 pseudogene 1 pseudogene pseudogene Approved 12q14.2 12q14.2 bcm1298 60S ribosomal protein L14 RPL14L ribosomal protein L14-like 2009-03-01 2009-01-23 2009-01-23 2017-10-30 144581 ENSG00000139239 OTTHUMG00000157598 NG_009597 19123937 HGNC:31384 +HGNC:35962 RPL14P2 ribosomal protein L14 pseudogene 2 pseudogene pseudogene Approved 3p14.2 03p14.2 2009-03-06 2009-03-11 100270930 NG_010436 19123937 HGNC:35962 +HGNC:36638 RPL14P3 ribosomal protein L14 pseudogene 3 pseudogene pseudogene Approved 4q31.1 04q31.1 2009-03-06 2014-05-22 730747 ENSG00000241923 OTTHUMG00000157571 NG_010438 19123937 PGOHUM00000245711 HGNC:36638 +HGNC:35663 RPL14P4 ribosomal protein L14 pseudogene 4 pseudogene pseudogene Approved 12q22 12q22 2009-03-06 2009-03-11 100271282 NG_010923 19123937 HGNC:35663 +HGNC:37720 RPL14P5 ribosomal protein L14 pseudogene 5 pseudogene pseudogene Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 2010-02-04 2014-11-19 442442 ENSG00000225661 OTTHUMG00000021055 NG_009084 PGOHUM00000241165 HGNC:37720 +HGNC:54686 RPL14P6 RPL14 pseudogene 6 pseudogene pseudogene Approved 2q14.3 02q14.3 2019-11-28 2019-11-28 100288533 ENSG00000185631 NG_030149 +HGNC:10306 RPL15 ribosomal protein L15 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "RPL10|RPLY10|RPYL10|EC45|L15" L ribosomal proteins 729 1998-07-23 2021-04-13 6138 ENSG00000174748 OTTHUMG00000130485 uc003ccn.4 AB007173 NM_002948 "CCDS58818|CCDS2640" P61313 9582194 MGI:1913730 RGD:621181 LRG_1152|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1152.xml 604174 376603 HGNC:10306 "ENST00000307839.10|NM_002948.5" HGNC:10306 +HGNC:16583 RPL15P1 ribosomal protein L15 pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ726N1.3 2009-03-01 2016-07-25 128756 ENSG00000227343 OTTHUMG00000031959 AL160411 NG_000975 19123937 PGOHUM00000296910 HGNC:16583 +HGNC:19803 RPL15P2 ribosomal protein L15 pseudogene 2 pseudogene pseudogene Approved 14q32.13 14q32.13 2009-03-01 2017-10-30 326279 ENSG00000240914 OTTHUMG00000158125 NG_002539 19123937 PGOHUM00000292441 HGNC:19803 +HGNC:21538 RPL15P3 ribosomal protein L15 pseudogene 3 pseudogene pseudogene Approved 6p24.1 06p24.1 bA511S14.1 2009-03-01 2014-11-18 653232 ENSG00000212802 OTTHUMG00000014268 NG_008796 19123937 HGNC:21538 +HGNC:21663 RPL15P4 ribosomal protein L15 pseudogene 4 pseudogene pseudogene Approved 6p21.33 06p21.33 Em:AC006046.2 2009-03-01 2017-10-30 100129921 ENSG00000225499 OTTHUMG00000031122 NG_009512 19123937 PGOHUM00000301755 HGNC:21663 +HGNC:35746 RPL15P5 ribosomal protein L15 pseudogene 5 pseudogene pseudogene Approved 2q22.1 02q22.1 2009-03-06 2019-11-08 100127993 ENSG00000233045 NG_011291 19123937 HGNC:35746 +HGNC:36185 RPL15P6 ribosomal protein L15 pseudogene 6 pseudogene pseudogene Approved 3q25.32 03q25.32 2009-03-06 2009-03-11 100270933 NG_010448 19123937 HGNC:36185 +HGNC:36808 RPL15P7 ribosomal protein L15 pseudogene 7 pseudogene pseudogene Approved 4p12 04p12 2009-03-06 2009-03-11 728576 NG_009957 19123937 HGNC:36808 +HGNC:36390 RPL15P8 ribosomal protein L15 pseudogene 8 pseudogene pseudogene Approved 4q28.2 04q28.2 2009-03-06 2009-03-11 100270934 NG_010451 19123937 HGNC:36390 +HGNC:36466 RPL15P9 ribosomal protein L15 pseudogene 9 pseudogene pseudogene Approved 6q22 06q22 2009-03-06 2009-03-11 100270935 NG_010454 19123937 HGNC:36466 +HGNC:36093 RPL15P11 ribosomal protein L15 pseudogene 11 pseudogene pseudogene Approved 7q33 07q33 2009-03-06 2009-03-11 402694 NG_009995 19123937 HGNC:36093 +HGNC:35529 RPL15P12 ribosomal protein L15 pseudogene 12 pseudogene pseudogene Approved 8q24.21 08q24.21 2009-03-06 2009-03-11 100131958 NG_010613 19123937 HGNC:35529 +HGNC:35915 RPL15P13 ribosomal protein L15 pseudogene 13 pseudogene pseudogene Approved 10q25.3 10q25.3 2009-03-06 2016-08-16 100131338 ENSG00000226428 OTTHUMG00000019093 NG_010020 19123937 PGOHUM00000290290 HGNC:35915 +HGNC:36487 RPL15P14 ribosomal protein L15 pseudogene 14 pseudogene pseudogene Approved 10q22.1 10q22.1 2009-03-06 2016-08-17 100271283 ENSG00000226701 OTTHUMG00000018432 NG_010927 19123937 PGOHUM00000290199 HGNC:36487 +HGNC:36780 RPL15P15 ribosomal protein L15 pseudogene 15 pseudogene pseudogene Approved 11q23.2 11q23.2 2009-03-06 2009-03-11 100128347 NG_010477 19123937 HGNC:36780 +HGNC:36067 RPL15P16 ribosomal protein L15 pseudogene 16 pseudogene pseudogene Approved 11q13.4 11q13.4 2009-03-06 2009-03-11 100127949 NG_011061 19123937 HGNC:36067 +HGNC:36852 RPL15P17 ribosomal protein L15 pseudogene 17 pseudogene pseudogene Approved 12p13.31 12p13.31 2009-03-06 2009-03-11 728002 NG_011003 19123937 HGNC:36852 +HGNC:36515 RPL15P18 ribosomal protein L15 pseudogene 18 pseudogene pseudogene Approved 13q32.3 13q32.3 2009-03-06 2011-01-14 728088 ENSG00000228501 OTTHUMG00000017283 NG_010118 19123937 PGOHUM00000248483 HGNC:36515 +HGNC:36130 RPL15P20 ribosomal protein L15 pseudogene 20 pseudogene pseudogene Approved 16p13.11 16p13.11 2009-03-06 2017-10-30 646672 ENSG00000215003 OTTHUMG00000158104 NG_010064 19123937 PGOHUM00000293438 HGNC:36130 +HGNC:36190 RPL15P21 ribosomal protein L15 pseudogene 21 pseudogene pseudogene Approved 17p12 17p12 2009-03-06 2016-12-12 100132722 ENSG00000244753 OTTHUMG00000157731 NG_010592 19123937 PGOHUM00000293958 HGNC:36190 +HGNC:36933 RPL15P22 ribosomal protein L15 pseudogene 22 pseudogene pseudogene Approved 22q12.1 22q12.1 2009-03-06 2009-03-11 100130624 NG_010342 19123937 HGNC:36933 +HGNC:10307 RPL17 ribosomal protein L17 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "rpL23|L17" "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1991-12-17 2016-10-05 6139 ENSG00000265681 OTTHUMG00000179680 uc002ldq.4 AB007174 NM_000985 "CCDS56070|CCDS45865" P18621 "2402465|9582194" MGI:2448270 RGD:1303019 603661 HGNC:10307 "ENST00000580261.6|NM_001035006.5" +HGNC:44661 RPL17-C18orf32 RPL17-C18orf32 readthrough other readthrough Approved 18q21.1 18q21.1 2012-12-12 2012-12-12 100526842 ENSG00000215472 OTTHUMG00000179689 uc002ldm.3 NM_001199355 MGI:2448270 HGNC:44661 +HGNC:16559 RPL17P1 ribosomal protein L17 pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ1178H5.1 2009-03-01 2016-07-25 140748 ENSG00000229500 OTTHUMG00000032003 NG_000991 19123937 PGOHUM00000296914 HGNC:16559 +HGNC:23540 RPL17P2 ribosomal protein L17 pseudogene 2 pseudogene pseudogene Approved 14q23.1 14q23.1 2009-03-01 2014-11-19 652974 ENSG00000242135 OTTHUMG00000157939 AL157756 NG_009524 19123937 PGOHUM00000247815 HGNC:23540 +HGNC:19796 RPL17P3 ribosomal protein L17 pseudogene 3 pseudogene pseudogene Approved 14q31.1 14q31.1 2003-01-13 2013-09-24 326286 ENSG00000271705 OTTHUMG00000184421 NG_009206 PGOHUM00000247871 HGNC:19796 +HGNC:19811 RPL17P4 ribosomal protein L17 pseudogene 4 pseudogene pseudogene Approved 14q32.32 14q32.32 2009-03-01 2014-11-19 326288 NG_002541 19123937 HGNC:19811 +HGNC:35491 RPL17P5 ribosomal protein L17 pseudogene 5 pseudogene pseudogene Approved 1p22.3 01p22.3 2009-03-06 2009-03-11 388132 NG_011404 19123937 HGNC:35491 +HGNC:36520 RPL17P6 ribosomal protein L17 pseudogene 6 pseudogene pseudogene Approved 1p31.1 01p31.1 2009-03-06 2009-03-11 645441 NG_010347 19123937 HGNC:36520 +HGNC:36005 RPL17P7 ribosomal protein L17 pseudogene 7 pseudogene pseudogene Approved 1p13.3 01p13.3 2009-03-06 2009-03-11 100132742 NG_010702 19123937 HGNC:36005 +HGNC:35651 RPL17P8 ribosomal protein L17 pseudogene 8 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2009-03-11 730255 NG_010750 19123937 HGNC:35651 +HGNC:36230 RPL17P9 ribosomal protein L17 pseudogene 9 pseudogene pseudogene Approved 1p36.11 01p36.11 2009-03-06 2009-03-11 729301 NG_011099 19123937 HGNC:36230 +HGNC:35838 RPL17P10 ribosomal protein L17 pseudogene 10 pseudogene pseudogene Approved 2q33.1 02q33.1 2009-03-06 2016-12-09 100270936 ENSG00000224672 OTTHUMG00000154710 NG_010458 19123937 PGOHUM00000298276 HGNC:35838 +HGNC:36509 RPL17P11 ribosomal protein L17 pseudogene 11 pseudogene pseudogene Approved 2q37.1 02q37.1 2009-03-06 2016-08-01 100270937 ENSG00000233445 OTTHUMG00000059030 NG_002601 19123937 PGOHUM00000298354 HGNC:36509 +HGNC:36779 RPL17P12 ribosomal protein L17 pseudogene 12 pseudogene pseudogene Approved 2q22.3 02q22.3 2009-03-06 2013-09-24 100270938 ENSG00000230559 OTTHUMG00000153720 NG_010467 19123937 PGOHUM00000263105 HGNC:36779 +HGNC:36378 RPL17P13 ribosomal protein L17 pseudogene 13 pseudogene pseudogene Approved 2q23.2 02q23.2 2009-03-06 2019-10-16 100270939 ENSG00000223604 NG_010475 19123937 HGNC:36378 +HGNC:35806 RPL17P14 ribosomal protein L17 pseudogene 14 pseudogene pseudogene Approved 2q36.3 02q36.3 2009-03-06 2019-12-05 100270941 ENSG00000226297 NG_010484 19123937 HGNC:35806 +HGNC:36889 RPL17P15 ribosomal protein L17 pseudogene 15 pseudogene pseudogene Approved 2q14.2 02q14.2 2009-03-06 2019-11-28 100128117 ENSG00000229326 NG_010608 19123937 HGNC:36889 +HGNC:35939 RPL17P16 ribosomal protein L17 pseudogene 16 pseudogene pseudogene Approved 3p21.31 03p21.31 2009-03-06 2009-03-11 729349 NG_009988 19123937 HGNC:35939 +HGNC:35515 RPL17P17 ribosomal protein L17 pseudogene 17 pseudogene pseudogene Approved 3p14.1 03p14.1 2009-03-06 2012-10-16 100270943 ENSG00000223409 OTTHUMG00000157309 NG_010492 19123937 PGOHUM00000263122 HGNC:35515 +HGNC:36538 RPL17P18 ribosomal protein L17 pseudogene 18 pseudogene pseudogene Approved 3q29 03q29 2009-03-06 2009-03-11 100129657 NG_010629 19123937 HGNC:36538 +HGNC:36919 RPL17P19 ribosomal protein L17 pseudogene 19 pseudogene pseudogene Approved 4q13.1 04q13.1 2009-03-06 2013-09-24 100271150 ENSG00000241261 OTTHUMG00000157483 NG_010247 19123937 PGOHUM00000263135 HGNC:36919 +HGNC:36015 RPL17P20 ribosomal protein L17 pseudogene 20 pseudogene pseudogene Approved 4q12 04q12 2009-03-06 2017-10-30 391655 ENSG00000241250 OTTHUMG00000157478 NG_011190 19123937 PGOHUM00000300216 HGNC:36015 +HGNC:36037 RPL17P21 ribosomal protein L17 pseudogene 21 pseudogene pseudogene Approved 5q11.2 05q11.2 2009-03-06 2009-03-11 100271151 NG_002793 19123937 HGNC:36037 +HGNC:35761 RPL17P22 ribosomal protein L17 pseudogene 22 pseudogene pseudogene Approved 5q11.2 05q11.2 2009-03-06 2017-10-30 727984 ENSG00000243592 OTTHUMG00000157693 NG_010916 19123937 PGOHUM00000300957 HGNC:35761 +HGNC:35832 RPL17P23 ribosomal protein L17 pseudogene 23 pseudogene pseudogene Approved 6q22.33 06q22.33 2009-03-06 2009-03-11 100271152 NG_010254 19123937 HGNC:35832 +HGNC:36506 RPL17P24 ribosomal protein L17 pseudogene 24 pseudogene pseudogene Approved 6q25.2 06q25.2 2009-03-06 2009-03-11 100271153 NG_010258 19123937 HGNC:36506 +HGNC:36844 RPL17P25 ribosomal protein L17 pseudogene 25 pseudogene pseudogene Approved 6q14.1 06q14.1 2009-03-06 2017-10-30 442232 ENSG00000219547 OTTHUMG00000015091 NG_010621 19123937 PGOHUM00000301445 HGNC:36844 +HGNC:35597 RPL17P26 ribosomal protein L17 pseudogene 26 pseudogene pseudogene Approved 6p12.1 06p12.1 2009-03-06 2017-10-30 100129784 ENSG00000216854 OTTHUMG00000014910 NG_011287 19123937 PGOHUM00000301820 HGNC:35597 +HGNC:36038 RPL17P27 ribosomal protein L17 pseudogene 27 pseudogene pseudogene Approved 7q34 07q34 2009-03-06 2009-03-11 202789 NG_009649 19123937 HGNC:36038 +HGNC:36055 RPL17P28 ribosomal protein L17 pseudogene 28 pseudogene pseudogene Approved 7q34 07q34 2009-03-06 2009-03-11 100270940 NG_010479 19123937 HGNC:36055 +HGNC:36510 RPL17P29 ribosomal protein L17 pseudogene 29 pseudogene pseudogene Approved 8p23.1 08p23.1 2009-03-06 2009-03-11 100271154 NG_010265 19123937 HGNC:36510 +HGNC:35604 RPL17P30 ribosomal protein L17 pseudogene 30 pseudogene pseudogene Approved 8p12 08p12 2009-03-06 2009-03-11 100271155 NG_010271 19123937 HGNC:35604 +HGNC:37036 RPL17P31 ribosomal protein L17 pseudogene 31 pseudogene pseudogene Approved 8q13.2 08q13.2 2009-03-06 2009-03-11 100271156 NG_010274 19123937 HGNC:37036 +HGNC:36492 RPL17P32 ribosomal protein L17 pseudogene 32 pseudogene pseudogene Approved 8q23 08q23 2009-03-06 2009-03-11 100270942 NG_010489 19123937 HGNC:36492 +HGNC:36654 RPL17P33 ribosomal protein L17 pseudogene 33 pseudogene pseudogene Approved 8p12 08p12 2009-03-06 2017-10-30 646909 ENSG00000243844 OTTHUMG00000158589 NG_011315 19123937 PGOHUM00000303491 HGNC:36654 +HGNC:36756 RPL17P34 ribosomal protein L17 pseudogene 34 pseudogene pseudogene Approved 10q23.33 10q23.33 2009-03-06 2016-08-17 643863 ENSG00000213432 OTTHUMG00000018771 NG_010111 19123937 PGOHUM00000289956 HGNC:36756 +HGNC:35819 RPL17P35 ribosomal protein L17 pseudogene 35 pseudogene pseudogene Approved 10q21.3 10q21.3 2009-03-06 2013-09-24 100271284 ENSG00000233900 OTTHUMG00000018324 NG_010932 19123937 PGOHUM00000262848 HGNC:35819 +HGNC:36051 RPL17P36 ribosomal protein L17 pseudogene 36 pseudogene pseudogene Approved 10q26.11 10q26.11 2009-03-06 2016-08-16 729340 ENSG00000236058 OTTHUMG00000019137 NG_011307 19123937 PGOHUM00000290000 HGNC:36051 +HGNC:36854 RPL17P37 ribosomal protein L17 pseudogene 37 pseudogene pseudogene Approved 12q24.23 12q24.23 2009-03-06 2013-09-24 100271411 ENSG00000241590 OTTHUMG00000157755 NG_010272 19123937 PGOHUM00000262874 HGNC:36854 +HGNC:36219 RPL17P38 ribosomal protein L17 pseudogene 38 pseudogene pseudogene Approved 12q23.3 12q23.3 2009-03-06 2009-03-11 100271417 NG_010301 19123937 HGNC:36219 +HGNC:36427 RPL17P39 ribosomal protein L17 pseudogene 39 pseudogene pseudogene Approved 15q23 15q23 2009-03-06 2014-11-19 645296 NG_010917 19123937 HGNC:36427 +HGNC:36672 RPL17P40 ribosomal protein L17 pseudogene 40 pseudogene pseudogene Approved 16p13.11 16p13.11 2009-03-06 2017-10-30 100271413 ENSG00000241067 OTTHUMG00000158110 NG_010279 19123937 PGOHUM00000293439 HGNC:36672 +HGNC:36292 RPL17P41 ribosomal protein L17 pseudogene 41 pseudogene pseudogene Approved 17q24.2 17q24.2 2009-03-06 2017-10-30 100132645 ENSG00000213179 OTTHUMG00000157927 NG_010200 19123937 PGOHUM00000294534 HGNC:36292 +HGNC:36749 RPL17P42 ribosomal protein L17 pseudogene 42 pseudogene pseudogene Approved 17q12 17q12 2009-03-06 2015-02-04 100271418 NG_010307 19123937 PGOHUM00000294401 HGNC:36749 +HGNC:35996 RPL17P43 ribosomal protein L17 pseudogene 43 pseudogene pseudogene Approved 17p11.2 17p11.2 2009-03-06 2017-10-30 729259 ENSG00000228331 OTTHUMG00000059604 NG_010892 19123937 PGOHUM00000294308 HGNC:35996 +HGNC:36396 RPL17P44 ribosomal protein L17 pseudogene 44 pseudogene pseudogene Approved 18q21.33 18q21.33 2009-03-06 2017-10-30 100129584 ENSG00000241088 OTTHUMG00000158260 NG_010256 19123937 PGOHUM00000294809 HGNC:36396 +HGNC:35618 RPL17P45 ribosomal protein L17 pseudogene 45 pseudogene pseudogene Approved 18q12.3 18q12.3 2009-03-06 2013-09-24 100271414 ENSG00000267664 OTTHUMG00000182379 NG_010285 19123937 PGOHUM00000262996 HGNC:35618 +HGNC:36202 RPL17P46 ribosomal protein L17 pseudogene 46 pseudogene pseudogene Approved 18q21.2 18q21.2 2009-03-06 2017-10-30 100271419 ENSG00000239689 OTTHUMG00000158248 NG_010313 19123937 PGOHUM00000294787 HGNC:36202 +HGNC:36089 RPL17P47 ribosomal protein L17 pseudogene 47 pseudogene pseudogene Approved 19p13.2 19p13.2 2009-03-06 2009-03-11 100271415 NG_010292 19123937 HGNC:36089 +HGNC:36997 RPL17P48 ribosomal protein L17 pseudogene 48 pseudogene pseudogene Approved 20q13.33 20q13.33 2009-03-06 2009-03-11 100271416 NG_010297 19123937 HGNC:36997 +HGNC:37009 RPL17P49 ribosomal protein L17 pseudogene 49 pseudogene pseudogene Approved Xp22.2 Xp22.2 2009-03-06 2012-10-16 100271388 ENSG00000231211 OTTHUMG00000021136 NG_010144 19123937 PGOHUM00000263335 HGNC:37009 +HGNC:45098 RPL17P50 ribosomal protein L17 pseudogene 50 pseudogene pseudogene Approved 10q22.1 10q22.1 2013-02-15 2013-02-15 729046 ENSG00000213700 OTTHUMG00000018448 NG_022148 HGNC:45098 +HGNC:49100 RPL17P51 ribosomal protein L17 pseudogene 51 pseudogene pseudogene Approved 13q14.11 13q14.11 2013-09-02 2013-09-02 106480245 ENSG00000271429 OTTHUMG00000184721 NG_043848 PGOHUM00000262882 HGNC:49100 +HGNC:10310 RPL18 ribosomal protein L18 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 L18 60S ribosomal protein L18 L ribosomal proteins 729 1994-01-04 2016-11-10 6141 ENSG00000063177 OTTHUMG00000169760 uc002pjq.3 L11566 NM_000979 "CCDS12726|CCDS58669" Q07020 8218404 MGI:98003 RGD:621182 604179 HGNC:10310 "ENST00000549920.6|NM_000979.4" HGNC:10310 +HGNC:10311 RPL18A ribosomal protein L18a protein-coding gene gene with protein product Approved 19p13.11 19p13.11 L18A "60S ribosomal protein L18a|ribosomal protein L18a-like protein" "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1998-08-18 2014-11-19 6142 ENSG00000105640 OTTHUMG00000183445 uc002nhp.4 AB007175 NM_000980 CCDS12367 Q02543 9582194 MGI:1924058 RGD:1302976 604178 HGNC:10311 "ENST00000222247.10|NM_000980.4" +HGNC:19778 RPL18AP1 ribosomal protein L18a pseudogene 1 pseudogene pseudogene Approved 14q32.12 14q32.12 2009-03-01 2014-11-19 326289 NG_002542 19123937 HGNC:19778 +HGNC:23774 RPL18AP2 ribosomal protein L18a pseudogene 2 pseudogene pseudogene Approved 21q22.3 21q22.3 2003-12-15 2013-02-15 387494 ENSG00000225043 OTTHUMG00000154992 NG_009884 PGOHUM00000263773 HGNC:23774 +HGNC:31387 RPL18AP3 ribosomal protein L18a pseudogene 3 pseudogene pseudogene Approved 12q23.3 12q23.3 bcm182 2009-03-01 2014-11-18 390354 ENSG00000213442 OTTHUMG00000157701 AC089983 NG_009537 19123937 HGNC:31387 +HGNC:36556 RPL18AP4 ribosomal protein L18a pseudogene 4 pseudogene pseudogene Approved 1p35.1 01p35.1 2009-03-06 2009-03-11 127545 NG_010303 19123937 HGNC:36556 +HGNC:36777 RPL18AP5 ribosomal protein L18a pseudogene 5 pseudogene pseudogene Approved 1p36.11 01p36.11 2009-03-06 2009-03-11 729955 NG_009594 19123937 HGNC:36777 +HGNC:36266 RPL18AP6 ribosomal protein L18a pseudogene 6 pseudogene pseudogene Approved 2p16.3 02p16.3 2009-03-06 2009-03-11 285053 NG_010647 19123937 HGNC:36266 +HGNC:35607 RPL18AP7 ribosomal protein L18a pseudogene 7 pseudogene pseudogene Approved 3p22.2 03p22.2 2009-03-06 2013-02-15 100133038 ENSG00000232439 OTTHUMG00000156165 NG_010905 19123937 PGOHUM00000263799 HGNC:35607 +HGNC:36984 RPL18AP8 ribosomal protein L18a pseudogene 8 pseudogene pseudogene Approved 3q11.2 03q11.2 2009-03-06 2011-04-21 644082 ENSG00000218754 OTTHUMG00000157331 NG_011252 19123937 HGNC:36984 +HGNC:35885 RPL18AP10 ribosomal protein L18a pseudogene 10 pseudogene pseudogene Approved 7p14.1-p13 07p14.1-p13 2009-03-06 2009-03-11 100271285 NG_010938 19123937 HGNC:35885 +HGNC:36661 RPL18AP11 ribosomal protein L18a pseudogene 11 pseudogene pseudogene Approved 9p24.1 09p24.1 2009-03-06 2009-03-11 100127999 NG_011326 19123937 HGNC:36661 +HGNC:36991 RPL18AP12 ribosomal protein L18a pseudogene 12 pseudogene pseudogene Approved 17q21 17q21 2009-03-06 2009-03-11 100271604 NG_011264 19123937 HGNC:36991 +HGNC:36739 RPL18AP13 ribosomal protein L18a pseudogene 13 pseudogene pseudogene Approved 19p13.2 19p13.2 2009-03-06 2009-03-11 646189 NG_010245 19123937 HGNC:36739 +HGNC:36624 RPL18AP14 ribosomal protein L18a pseudogene 14 pseudogene pseudogene Approved Xq22.3 Xq22.3 2009-03-06 2011-01-17 100271420 ENSG00000223733 OTTHUMG00000022128 NG_010318 19123937 HGNC:36624 +HGNC:36010 RPL18AP15 ribosomal protein L18a pseudogene 15 pseudogene pseudogene Approved Xq23 Xq23 2009-03-06 2011-09-20 392522 ENSG00000236189 OTTHUMG00000022208 NG_010399 19123937 PGOHUM00000241498 HGNC:36010 +HGNC:36288 RPL18AP16 ribosomal protein L18a pseudogene 16 pseudogene pseudogene Approved Xq28 Xq28 2009-03-06 2011-09-20 347544 ENSG00000237793 OTTHUMG00000024214 NG_006952 19123937 PGOHUM00000242092 HGNC:36288 +HGNC:39850 RPL18AP17 ribosomal protein L18a pseudogene 17 pseudogene pseudogene Approved 13q21.33 13q21.33 2011-04-01 2011-04-01 100873859 ENSG00000227952 OTTHUMG00000017066 NG_032359 PGOHUM00000248436 HGNC:39850 +HGNC:19673 RPL18P1 ribosomal protein L18 pseudogene 1 pseudogene pseudogene Approved 14q21.3 14q21.3 2009-03-01 2017-03-21 326291 ENSG00000242417 OTTHUMG00000157890 NG_002543 19123937 PGOHUM00000292649 HGNC:19673 +HGNC:35759 RPL18P2 ribosomal protein L18 pseudogene 2 pseudogene pseudogene Approved 1q25.3 01q25.3 2009-03-06 2009-03-11 100129421 NG_010738 19123937 HGNC:35759 +HGNC:35783 RPL18P3 ribosomal protein L18 pseudogene 3 pseudogene pseudogene Approved 5q23.1 05q23.1 2009-03-06 2009-03-11 100129374 NG_010491 19123937 HGNC:35783 +HGNC:36144 RPL18P4 ribosomal protein L18 pseudogene 4 pseudogene pseudogene Approved 7q31.31 07q31.31 2009-03-06 2009-03-11 392979 NG_009449 19123937 HGNC:36144 +HGNC:36425 RPL18P5 ribosomal protein L18 pseudogene 5 pseudogene pseudogene Approved 7q33 07q33 2009-03-06 2009-03-11 100270944 NG_010496 19123937 HGNC:36425 +HGNC:35528 RPL18P6 ribosomal protein L18 pseudogene 6 pseudogene pseudogene Approved 8q23.2 08q23.2 2009-03-06 2009-03-11 100131333 NG_009990 19123937 HGNC:35528 +HGNC:35936 RPL18P7 ribosomal protein L18 pseudogene 7 pseudogene pseudogene Approved 8q23.3 08q23.3 2009-03-06 2009-03-11 100270945 NG_010500 19123937 HGNC:35936 +HGNC:36878 RPL18P8 ribosomal protein L18 pseudogene 8 pseudogene pseudogene Approved 11p12 11p12 2009-03-06 2009-03-11 100129670 NG_010700 19123937 HGNC:36878 +HGNC:36766 RPL18P9 ribosomal protein L18 pseudogene 9 pseudogene pseudogene Approved 12p13.32 12p13.32 2009-03-06 2009-03-11 100129645 NG_010566 19123937 HGNC:36766 +HGNC:35957 RPL18P10 ribosomal protein L18 pseudogene 10 pseudogene pseudogene Approved 13q14.2 13q14.2 2009-03-06 2011-01-14 100271286 ENSG00000214359 OTTHUMG00000016928 NG_010943 19123937 PGOHUM00000248592 HGNC:35957 +HGNC:35742 RPL18P11 ribosomal protein L18 pseudogene 11 pseudogene pseudogene Approved 15q25.1 15q25.1 2009-03-06 2017-10-30 390612 ENSG00000213307 OTTHUMG00000158032 NG_011096 19123937 PGOHUM00000293030 HGNC:35742 +HGNC:36115 RPL18P12 ribosomal protein L18 pseudogene 12 pseudogene pseudogene Approved 16p13.3 16p13.3 2009-03-06 2009-03-11 390671 NG_010057 19123937 HGNC:36115 +HGNC:35599 RPL18P13 ribosomal protein L18 pseudogene 13 pseudogene pseudogene Approved 16q23.1 16q23.1 2009-03-06 2017-01-11 441775 ENSG00000244485 OTTHUMG00000158262 NG_010911 19123937 PGOHUM00000293665 HGNC:35599 +HGNC:10312 RPL19 ribosomal protein L19 protein-coding gene gene with protein product Approved 17q12 17q12 "FLJ27452|MGC71997|DKFZp779D216|L19" "60S ribosomal protein L19|ribosomal protein L19, cytosolic, N-terminus truncated" L ribosomal proteins 729 1991-11-29 2021-04-13 6143 ENSG00000108298 OTTHUMG00000178979 uc002hrq.1 NM_000981 "CCDS82113|CCDS42312" P84098 1577483 MGI:98020 RGD:621183 LRG_1120|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1120.xml 180466 HGNC:10312 "ENST00000225430.9|NM_000981.4" +HGNC:16595 RPL19P1 ribosomal protein L19 pseudogene 1 pseudogene pseudogene Approved 20p13 20p13 dJ860F19.2 2009-03-01 2016-07-25 140759 ENSG00000226217 OTTHUMG00000031708 NG_001002 19123937 PGOHUM00000297040 HGNC:16595 +HGNC:29946 RPL19P2 ribosomal protein L19 pseudogene 2 pseudogene pseudogene Approved 3p14.3 03p14.3 2009-03-01 2014-11-19 654382 AC097358 NG_009531 19123937 HGNC:29946 +HGNC:36671 RPL19P3 ribosomal protein L19 pseudogene 3 pseudogene pseudogene Approved 1p31.3 01p31.3 2009-03-06 2009-03-11 100131759 NG_010913 19123937 HGNC:36671 +HGNC:36539 RPL19P4 ribosomal protein L19 pseudogene 4 pseudogene pseudogene Approved 2q21.1 02q21.1 2009-03-06 2019-10-16 646710 ENSG00000226915 NG_010288 19123937 HGNC:36539 +HGNC:36325 RPL19P5 ribosomal protein L19 pseudogene 5 pseudogene pseudogene Approved 2q35 02q35 2009-03-06 2019-10-16 646532 ENSG00000230580 NG_010688 19123937 HGNC:36325 +HGNC:36795 RPL19P6 ribosomal protein L19 pseudogene 6 pseudogene pseudogene Approved 3q23 03q23 2009-03-06 2009-03-11 100270946 NG_010507 19123937 HGNC:36795 +HGNC:36088 RPL19P7 ribosomal protein L19 pseudogene 7 pseudogene pseudogene Approved 3q12 03q12 2009-03-06 2009-03-11 100131527 NG_011033 19123937 HGNC:36088 +HGNC:36696 RPL19P8 ribosomal protein L19 pseudogene 8 pseudogene pseudogene Approved 4q34.3 04q34.3 2009-03-06 2009-03-11 391719 NG_010214 19123937 HGNC:36696 +HGNC:35918 RPL19P9 ribosomal protein L19 pseudogene 9 pseudogene pseudogene Approved 5q35.3 05q35.3 2009-03-06 2009-03-11 653314 NG_009970 19123937 HGNC:35918 +HGNC:36534 RPL19P10 ribosomal protein L19 pseudogene 10 pseudogene pseudogene Approved 5q34 05q34 2009-03-06 2009-03-11 100270948 NG_010516 19123937 HGNC:36534 +HGNC:36953 RPL19P11 ribosomal protein L19 pseudogene 11 pseudogene pseudogene Approved 5p13.3 05p13.3 2009-03-06 2013-09-24 100270950 ENSG00000241668 OTTHUMG00000157639 NG_010524 19123937 PGOHUM00000235543 HGNC:36953 +HGNC:36047 RPL19P12 ribosomal protein L19 pseudogene 12 pseudogene pseudogene Approved 7q22.1 07q22.1 2009-03-06 2010-06-16 100129424 NR_026660 19123937 HGNC:36047 +HGNC:36879 RPL19P13 ribosomal protein L19 pseudogene 13 pseudogene pseudogene Approved 8p23.1 08p23.1 2009-03-06 2011-12-07 392193 ENSG00000239315 OTTHUMG00000158120 NG_009963 19123937 PGOHUM00000250020 HGNC:36879 +HGNC:35684 RPL19P14 ribosomal protein L19 pseudogene 14 pseudogene pseudogene Approved 8q22.2 08q22.2 2009-03-06 2017-10-30 100270951 ENSG00000240870 OTTHUMG00000158670 NG_010531 19123937 PGOHUM00000303635 HGNC:35684 +HGNC:35920 RPL19P15 ribosomal protein L19 pseudogene 15 pseudogene pseudogene Approved 9q34.12 09q34.12 2009-03-06 2009-03-11 642306 NG_009968 19123937 HGNC:35920 +HGNC:36596 RPL19P16 ribosomal protein L19 pseudogene 16 pseudogene pseudogene Approved 10q26.12 10q26.12 2009-03-06 2016-08-16 646255 ENSG00000236762 OTTHUMG00000019172 NG_010575 19123937 PGOHUM00000290008 HGNC:36596 +HGNC:36829 RPL19P17 ribosomal protein L19 pseudogene 17 pseudogene pseudogene Approved 12p13 12p13 2009-03-06 2009-03-11 100271287 NG_010951 19123937 HGNC:36829 +HGNC:36121 RPL19P18 ribosomal protein L19 pseudogene 18 pseudogene pseudogene Approved 17p13.1 17p13.1 2009-03-06 2017-10-30 100271288 ENSG00000241654 OTTHUMG00000157702 NG_010954 19123937 PGOHUM00000293954 HGNC:36121 +HGNC:36194 RPL19P19 ribosomal protein L19 pseudogene 19 pseudogene pseudogene Approved 19q13.43 19q13.43 2009-03-06 2009-03-11 646820 NG_010859 19123937 HGNC:36194 +HGNC:35713 RPL19P20 ribosomal protein L19 pseudogene 20 pseudogene pseudogene Approved Xp11.3 Xp11.3 2009-03-06 2011-09-20 392451 ENSG00000229168 OTTHUMG00000021398 NG_009975 19123937 PGOHUM00000241730 HGNC:35713 +HGNC:35868 RPL19P21 ribosomal protein L19 pseudogene 21 pseudogene pseudogene Approved Xq28 Xq28 2009-03-06 2011-09-20 392557 ENSG00000230508 OTTHUMG00000024163 NG_010567 19123937 PGOHUM00000242079 HGNC:35868 +HGNC:10313 RPL21 ribosomal protein L21 protein-coding gene gene with protein product Approved 13q12.2 13q12.2 "L21|FLJ27458|MGC71252|MGC104274|MGC104275|DKFZp686C06101" 60S ribosomal protein L21 "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1986-01-01 2014-11-18 6144 ENSG00000122026 OTTHUMG00000016630 uc001ura.4 AB007176 NM_000982 CCDS9320 P46778 "3459254|7772601" MGI:1278340 RGD:68390 603636 285488 HGNC:10313 "ENST00000311549.11|NM_000982.4" HGNC:10313 +HGNC:10314 RPL21P1 ribosomal protein L21 pseudogene 1 pseudogene pseudogene Approved 12q24.31 12q24.31 RPL21P ribosomal protein L21 pseudogene 1994-12-13 2001-12-14 2001-12-10 2014-11-19 6145 ENSG00000214760 OTTHUMG00000168926 X63773 NG_000868 7940018 603416 PGOHUM00000239949 HGNC:10314 +HGNC:16539 RPL21P2 ribosomal protein L21 pseudogene 2 pseudogene pseudogene Approved 20p13 20p13 bA352D3.1 2009-03-01 2016-07-25 140715 ENSG00000215063 OTTHUMG00000031773 NG_000986 19123937 PGOHUM00000296886 HGNC:16539 +HGNC:16533 RPL21P3 ribosomal protein L21 pseudogene 3 pseudogene pseudogene Approved 20p11.23 20p11.23 bA189K21.4 2001-09-17 2016-07-25 128760 ENSG00000225419 OTTHUMG00000031969 NG_000976 PGOHUM00000297061 HGNC:16533 +HGNC:17959 RPL21P4 ribosomal protein L21 pseudogene 4 pseudogene pseudogene Approved 17q21.31 17q21.31 2009-03-01 2017-10-30 140660 ENSG00000240828 OTTHUMG00000157434 NG_005905 "8938427|19123937" PGOHUM00000294445 HGNC:17959 +HGNC:23541 RPL21P5 ribosomal protein L21 pseudogene 5 pseudogene pseudogene Approved 14q12 14q12 2005-11-24 2013-02-18 641613 ENSG00000258640 OTTHUMG00000170671 AL121808 NG_009393 PGOHUM00000263581 HGNC:23541 +HGNC:23542 RPL21P6 ribosomal protein L21 pseudogene 6 pseudogene pseudogene Approved 14q22.3 14q22.3 2009-03-01 2014-11-19 652975 ENSG00000239199 OTTHUMG00000157908 AL356801 NG_009398 19123937 HGNC:23542 +HGNC:19772 RPL21P7 ribosomal protein L21 pseudogene 7 pseudogene pseudogene Approved 14q23.3 14q23.3 2003-01-13 2013-09-24 145370 ENSG00000258613 OTTHUMG00000171169 NG_002487 PGOHUM00000258744 HGNC:19772 +HGNC:19779 RPL21P8 ribosomal protein L21 pseudogene 8 pseudogene pseudogene Approved 14q23.3 14q23.3 2009-03-01 2014-11-19 319145 ENSG00000180662 OTTHUMG00000157964 NG_002521 19123937 PGOHUM00000258745 HGNC:19779 +HGNC:19780 RPL21P9 ribosomal protein L21 pseudogene 9 pseudogene pseudogene Approved 14q24.1 14q24.1 2003-01-13 2013-09-24 283562 ENSG00000258618 OTTHUMG00000171273 NG_008321 HGNC:19780 +HGNC:19795 RPL21P10 ribosomal protein L21 pseudogene 10 pseudogene pseudogene Approved 14q24.3 14q24.3 2009-03-01 2014-11-19 319143 ENSG00000239272 OTTHUMG00000158069 NG_002519 19123937 PGOHUM00000247867 HGNC:19795 +HGNC:19800 RPL21P11 ribosomal protein L21 pseudogene 11 pseudogene pseudogene Approved 14q32.11 14q32.11 2009-03-01 2014-11-18 157206 ENSG00000242571 OTTHUMG00000158081 NG_002488 19123937 HGNC:19800 +HGNC:19810 RPL21P12 ribosomal protein L21 pseudogene 12 pseudogene pseudogene Approved 14q32.32 14q32.32 2003-01-13 2013-09-24 122409 ENSG00000259535 OTTHUMG00000171892 NG_002482 PGOHUM00000258800 HGNC:19810 +HGNC:19812 RPL21P13 ribosomal protein L21 pseudogene 13 pseudogene pseudogene Approved 14q32.32 14q32.32 2009-03-01 2014-11-19 319144 ENSG00000242837 OTTHUMG00000158137 NG_002520 19123937 PGOHUM00000248276 HGNC:19812 +HGNC:31029 RPL21P14 ribosomal protein L21 pseudogene 14 pseudogene pseudogene Approved 15q22.1 15q22.1 HsT16795 2009-03-01 2014-11-19 729208 AC090515 NG_009507 19123937 HGNC:31029 +HGNC:31030 RPL21P15 ribosomal protein L21 pseudogene 15 pseudogene pseudogene Approved 15q22.31 15q22.31 HsT18206 2009-03-01 2014-11-19 654385 AC090543 NG_009532 19123937 HGNC:31030 +HGNC:31396 RPL21P16 ribosomal protein L21 pseudogene 16 pseudogene pseudogene Approved 10q26.12 10q26.12 Em:AC073587.1 2009-03-01 2016-08-17 729402 ENSG00000220842 OTTHUMG00000019165 NG_009450 19123937 HGNC:31396 +HGNC:19416 RPL21P17 ribosomal protein L21 pseudogene 17 pseudogene pseudogene Approved 3p26.3 03p26.3 2009-03-01 2014-11-19 727810 ENSG00000214073 OTTHUMG00000154858 AC018814 NG_009372 19123937 PGOHUM00000237923 HGNC:19416 +HGNC:28362 RPL21P18 ribosomal protein L21 pseudogene 18 pseudogene pseudogene Approved 12q14.3 12q14.3 ENSG00000184796 2009-03-01 2014-11-19 729484 ENSG00000213343 OTTHUMG00000157609 NG_009709 19123937 PGOHUM00000239835 HGNC:28362 +HGNC:35748 RPL21P19 ribosomal protein L21 pseudogene 19 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2009-03-11 641293 NG_005331 19123937 HGNC:35748 +HGNC:36582 RPL21P20 ribosomal protein L21 pseudogene 20 pseudogene pseudogene Approved 1p34.2 01p34.2 2009-03-06 2009-03-11 388621 NG_010042 19123937 HGNC:36582 +HGNC:35728 RPL21P21 ribosomal protein L21 pseudogene 21 pseudogene pseudogene Approved 1p36.3 01p36.3 2009-03-06 2009-03-11 100270877 NG_010149 19123937 HGNC:35728 +HGNC:36550 RPL21P22 ribosomal protein L21 pseudogene 22 pseudogene pseudogene Approved 1p35.2 01p35.2 2009-03-06 2009-03-11 100270878 NG_010153 19123937 HGNC:36550 +HGNC:36205 RPL21P23 ribosomal protein L21 pseudogene 23 pseudogene pseudogene Approved 1p32.2 01p32.2 2009-03-06 2013-09-19 100270879 ENSG00000236776 OTTHUMG00000039625 NG_010163 19123937 PGOHUM00000244733 HGNC:36205 +HGNC:35702 RPL21P24 ribosomal protein L21 pseudogene 24 pseudogene pseudogene Approved 1p33 01p33 2009-03-06 2014-11-19 100270880 ENSG00000229554 OTTHUMG00000007964 NG_010168 19123937 HGNC:35702 +HGNC:36785 RPL21P25 ribosomal protein L21 pseudogene 25 pseudogene pseudogene Approved 1p33 01p33 2009-03-06 2009-03-11 100270881 NG_010175 19123937 HGNC:36785 +HGNC:35910 RPL21P26 ribosomal protein L21 pseudogene 26 pseudogene pseudogene Approved 1p22-p21 01p22-p21 2009-03-06 2009-03-11 100270882 NG_010180 19123937 HGNC:35910 +HGNC:36371 RPL21P27 ribosomal protein L21 pseudogene 27 pseudogene pseudogene Approved 1q23 01q23 2009-03-06 2009-03-11 100270952 NG_010535 19123937 HGNC:36371 +HGNC:36258 RPL21P28 ribosomal protein L21 pseudogene 28 pseudogene pseudogene Approved 1q32.3 01q32.3 2009-03-06 2013-01-23 100131205 ENSG00000220749 OTTHUMG00000037130 NR_026911 19123937 HGNC:36258 +HGNC:35793 RPL21P29 ribosomal protein L21 pseudogene 29 pseudogene pseudogene Approved 1p36.12 01p36.12 2009-03-06 2009-03-11 440575 NG_011325 19123937 HGNC:35793 +HGNC:36091 RPL21P30 ribosomal protein L21 pseudogene 30 pseudogene pseudogene Approved 2p16.2 02p16.2 2009-03-06 2019-11-08 100271157 ENSG00000235937 NG_010278 19123937 HGNC:36091 +HGNC:36306 RPL21P31 ribosomal protein L21 pseudogene 31 pseudogene pseudogene Approved 2q31.1 02q31.1 2009-03-06 2019-11-28 100271160 ENSG00000227187 NG_010296 19123937 HGNC:36306 +HGNC:36978 RPL21P32 ribosomal protein L21 pseudogene 32 pseudogene pseudogene Approved 2q32.1 02q32.1 2009-03-06 2013-09-24 100271161 ENSG00000224019 OTTHUMG00000154236 NG_010300 19123937 PGOHUM00000240452 HGNC:36978 +HGNC:36686 RPL21P33 ribosomal protein L21 pseudogene 33 pseudogene pseudogene Approved 2p16.1 02p16.1 2009-03-06 2014-01-17 100270953 ENSG00000237024 OTTHUMG00000152167 NG_010539 19123937 PGOHUM00000240655 HGNC:36686 +HGNC:36529 RPL21P34 ribosomal protein L21 pseudogene 34 pseudogene pseudogene Approved 2q14.3 02q14.3 2009-03-06 2019-11-28 100270954 ENSG00000238180 NG_010548 19123937 HGNC:36529 +HGNC:36900 RPL21P35 ribosomal protein L21 pseudogene 35 pseudogene pseudogene Approved 2q37.1 02q37.1 2009-03-06 2020-01-08 100270955 ENSG00000231494 NG_010553 19123937 HGNC:36900 +HGNC:36128 RPL21P36 ribosomal protein L21 pseudogene 36 pseudogene pseudogene Approved 2p22.3 02p22.3 2009-03-06 2019-11-29 100270956 ENSG00000233752 NG_010557 19123937 HGNC:36128 +HGNC:35704 RPL21P37 ribosomal protein L21 pseudogene 37 pseudogene pseudogene Approved 2p15 02p15 2009-03-06 2020-01-08 100129141 ENSG00000229503 NG_009700 19123937 HGNC:35704 +HGNC:36349 RPL21P38 ribosomal protein L21 pseudogene 38 pseudogene pseudogene Approved 2q31.1 02q31.1 2009-03-06 2012-11-23 100131481 ENSG00000233934 OTTHUMG00000154060 NG_010810 19123937 PGOHUM00000241017 HGNC:36349 +HGNC:36127 RPL21P39 ribosomal protein L21 pseudogene 39 pseudogene pseudogene Approved 3q24 03q24 2009-03-06 2012-11-15 389156 ENSG00000239797 OTTHUMG00000157392 NG_009665 19123937 PGOHUM00000237803 HGNC:36127 +HGNC:36189 RPL21P40 ribosomal protein L21 pseudogene 40 pseudogene pseudogene Approved 3p22.3 03p22.3 2009-03-06 2011-07-27 100271158 ENSG00000235670 OTTHUMG00000155839 NG_010284 19123937 PGOHUM00000237980 HGNC:36189 +HGNC:36765 RPL21P41 ribosomal protein L21 pseudogene 41 pseudogene pseudogene Approved 3p14.1 03p14.1 2009-03-06 2012-11-15 100271159 ENSG00000214560 OTTHUMG00000157313 NG_010291 19123937 PGOHUM00000238052 HGNC:36765 +HGNC:37017 RPL21P42 ribosomal protein L21 pseudogene 42 pseudogene pseudogene Approved 3q25.2 03q25.2 2009-03-06 2013-02-15 100271162 ENSG00000240068 OTTHUMG00000157416 NG_010306 19123937 PGOHUM00000263810 HGNC:37017 +HGNC:36008 RPL21P43 ribosomal protein L21 pseudogene 43 pseudogene pseudogene Approved 3q26.2 03q26.2 2009-03-06 2012-11-15 100271163 ENSG00000231688 OTTHUMG00000157291 NG_010312 19123937 PGOHUM00000237855 HGNC:36008 +HGNC:33820 RPL21P44 ribosomal protein L21 pseudogene 44 pseudogene pseudogene Approved 4q12 04q12 2009-03-12 2017-10-30 402176 ENSG00000229585 OTTHUMG00000157449 NR_027153 19123937 PGOHUM00000299832 HGNC:33820 +HGNC:35983 RPL21P45 ribosomal protein L21 pseudogene 45 pseudogene pseudogene Approved 4p14 04p14 2009-03-06 2009-03-11 727821 NG_009653 19123937 HGNC:35983 +HGNC:35687 RPL21P46 ribosomal protein L21 pseudogene 46 pseudogene pseudogene Approved 4p15.31 04p15.31 2009-03-06 2009-03-11 645174 NG_009673 19123937 HGNC:35687 +HGNC:36711 RPL21P47 ribosomal protein L21 pseudogene 47 pseudogene pseudogene Approved 4q13.1 04q13.1 2009-03-06 2013-09-23 100271164 ENSG00000241344 OTTHUMG00000157487 NG_010317 19123937 PGOHUM00000263819 HGNC:36711 +HGNC:35891 RPL21P48 ribosomal protein L21 pseudogene 48 pseudogene pseudogene Approved 4q23 04q23 2009-03-06 2009-03-11 100271165 NG_010321 19123937 HGNC:35891 +HGNC:35769 RPL21P49 ribosomal protein L21 pseudogene 49 pseudogene pseudogene Approved 4q24 04q24 2009-03-06 2009-03-11 100271166 NG_011346 19123937 HGNC:35769 +HGNC:36433 RPL21P50 ribosomal protein L21 pseudogene 50 pseudogene pseudogene Approved 4q28.1 04q28.1 2009-03-06 2013-09-23 100271167 ENSG00000228489 OTTHUMG00000155266 NG_010331 19123937 PGOHUM00000245688 HGNC:36433 +HGNC:36081 RPL21P51 ribosomal protein L21 pseudogene 51 pseudogene pseudogene Approved 4q32.3 04q32.3 2009-03-06 2009-03-11 100271169 NG_010345 19123937 HGNC:36081 +HGNC:36621 RPL21P52 ribosomal protein L21 pseudogene 52 pseudogene pseudogene Approved 4p12 04p12 2009-03-06 2009-03-11 100128351 NG_009687 19123937 HGNC:36621 +HGNC:36574 RPL21P53 ribosomal protein L21 pseudogene 53 pseudogene pseudogene Approved 4q28.1 04q28.1 2009-03-06 2009-03-11 653156 NG_010520 19123937 HGNC:36574 +HGNC:35552 RPL21P54 ribosomal protein L21 pseudogene 54 pseudogene pseudogene Approved 5p13.2 05p13.2 2009-03-06 2017-10-30 100271168 ENSG00000241829 OTTHUMG00000162023 NG_010337 19123937 PGOHUM00000300923 HGNC:35552 +HGNC:36434 RPL21P55 ribosomal protein L21 pseudogene 55 pseudogene pseudogene Approved 5q12.3 05q12.3 2009-03-06 2009-03-11 100271170 NG_010351 19123937 HGNC:36434 +HGNC:35525 RPL21P56 ribosomal protein L21 pseudogene 56 pseudogene pseudogene Approved 5p13.3 05p13.3 2009-03-06 2009-03-11 100271171 NG_010357 19123937 HGNC:35525 +HGNC:36644 RPL21P57 ribosomal protein L21 pseudogene 57 pseudogene pseudogene Approved 5q33.2 05q33.2 2009-03-06 2009-03-11 100271172 NG_010361 19123937 HGNC:36644 +HGNC:35755 RPL21P58 ribosomal protein L21 pseudogene 58 pseudogene pseudogene Approved 5q23.1 05q23.1 2009-03-06 2009-03-11 100271173 NG_010365 19123937 HGNC:35755 +HGNC:36922 RPL21P59 ribosomal protein L21 pseudogene 59 pseudogene pseudogene Approved 5q34 05q34 2009-03-06 2009-03-11 100271174 NG_010369 19123937 HGNC:36922 +HGNC:36044 RPL21P60 ribosomal protein L21 pseudogene 60 pseudogene pseudogene Approved 5q35.3 05q35.3 2009-03-06 2009-03-11 100271175 NG_010381 19123937 HGNC:36044 +HGNC:36712 RPL21P61 ribosomal protein L21 pseudogene 61 pseudogene pseudogene Approved 6p22.3 06p22.3 2009-03-06 2009-03-11 645157 NG_009666 19123937 HGNC:36712 +HGNC:36843 RPL21P62 ribosomal protein L21 pseudogene 62 pseudogene pseudogene Approved 6p24.3 06p24.3 2009-03-06 2009-03-11 442160 NG_009672 19123937 HGNC:36843 +HGNC:35526 RPL21P63 ribosomal protein L21 pseudogene 63 pseudogene pseudogene Approved 6p24.2 06p24.2 2009-03-06 2009-03-11 100271176 NG_010385 19123937 HGNC:35526 +HGNC:36259 RPL21P64 ribosomal protein L21 pseudogene 64 pseudogene pseudogene Approved 6q22.33 06q22.33 2009-03-06 2009-03-11 100271177 NG_010391 19123937 HGNC:36259 +HGNC:36017 RPL21P65 ribosomal protein L21 pseudogene 65 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2012-01-26 100271178 ENSG00000216977 OTTHUMG00000015303 NG_010397 19123937 PGOHUM00000243728 HGNC:36017 +HGNC:36476 RPL21P66 ribosomal protein L21 pseudogene 66 pseudogene pseudogene Approved 6q23.2 06q23.2 2009-03-06 2011-05-19 100271179 ENSG00000225343 OTTHUMG00000015580 NG_010401 19123937 PGOHUM00000243372 HGNC:36476 +HGNC:36139 RPL21P67 ribosomal protein L21 pseudogene 67 pseudogene pseudogene Approved 6q23.2 06q23.2 2009-03-06 2013-09-23 100271180 ENSG00000219776 OTTHUMG00000015564 NG_010407 19123937 PGOHUM00000243774 HGNC:36139 +HGNC:35720 RPL21P68 ribosomal protein L21 pseudogene 68 pseudogene pseudogene Approved 6p22.2 06p22.2 2009-03-06 2009-03-11 645452 NG_010409 19123937 HGNC:35720 +HGNC:36753 RPL21P69 ribosomal protein L21 pseudogene 69 pseudogene pseudogene Approved 6q25.3 06q25.3 2009-03-06 2009-03-11 642738 NG_009725 19123937 HGNC:36753 +HGNC:37024 RPL21P70 ribosomal protein L21 pseudogene 70 pseudogene pseudogene Approved 2p23.1 02p23.1 2009-03-06 2009-03-11 646489 NG_011366 19123937 HGNC:37024 +HGNC:36049 RPL21P71 ribosomal protein L21 pseudogene 71 pseudogene pseudogene Approved 3q24 03q24 2009-03-06 2012-11-15 729962 ENSG00000239412 OTTHUMG00000157393 NG_011368 19123937 PGOHUM00000259876 HGNC:36049 +HGNC:37043 RPL21P72 ribosomal protein L21 pseudogene 72 pseudogene pseudogene Approved 7p22.2 07p22.2 2009-03-06 2009-03-11 100271181 NG_010413 19123937 HGNC:37043 +HGNC:36794 RPL21P73 ribosomal protein L21 pseudogene 73 pseudogene pseudogene Approved 7q34 07q34 2009-03-06 2009-03-11 100271182 NG_010418 19123937 HGNC:36794 +HGNC:35854 RPL21P74 ribosomal protein L21 pseudogene 74 pseudogene pseudogene Approved 7q21.3 07q21.3 2009-03-06 2009-03-11 100271184 NG_010429 19123937 HGNC:35854 +HGNC:36460 RPL21P75 ribosomal protein L21 pseudogene 75 pseudogene pseudogene Approved 7p21.1 07p21.1 2009-03-06 2013-01-23 728501 ENSG00000213860 OTTHUMG00000152536 NG_006559 19123937 HGNC:36460 +HGNC:37042 RPL21P76 ribosomal protein L21 pseudogene 76 pseudogene pseudogene Approved 7q36.3 07q36.3 2009-03-06 2009-03-11 645373 NG_005567 19123937 HGNC:37042 +HGNC:36186 RPL21P77 ribosomal protein L21 pseudogene 77 pseudogene pseudogene Approved 8p21.3 08p21.3 2009-03-06 2009-03-11 100271183 NG_010422 19123937 HGNC:36186 +HGNC:35917 RPL21P78 ribosomal protein L21 pseudogene 78 pseudogene pseudogene Approved 8q24 08q24 2009-03-06 2009-03-11 100271185 NG_010433 19123937 HGNC:35917 +HGNC:36931 RPL21P79 ribosomal protein L21 pseudogene 79 pseudogene pseudogene Approved 8q11.23 08q11.23 2009-03-06 2009-03-11 100271188 NG_010445 19123937 HGNC:36931 +HGNC:35697 RPL21P80 ribosomal protein L21 pseudogene 80 pseudogene pseudogene Approved 8p12 08p12 2009-03-06 2009-03-11 100133273 NG_009717 19123937 HGNC:35697 +HGNC:35530 RPL21P81 ribosomal protein L21 pseudogene 81 pseudogene pseudogene Approved 9q34 09q34 2009-03-06 2009-03-11 100271389 NG_000837 19123937 HGNC:35530 +HGNC:36307 RPL21P82 ribosomal protein L21 pseudogene 82 pseudogene pseudogene Approved 9q22.31 09q22.31 2009-03-06 2009-03-11 650059 NG_009681 19123937 HGNC:36307 +HGNC:35864 RPL21P83 ribosomal protein L21 pseudogene 83 pseudogene pseudogene Approved 9p13.2 09p13.2 2009-03-06 2009-03-11 100271186 NG_010437 19123937 HGNC:35864 +HGNC:36612 RPL21P84 ribosomal protein L21 pseudogene 84 pseudogene pseudogene Approved 9q21.2 09q21.2 2009-03-06 2009-03-11 100271187 NG_010439 19123937 HGNC:36612 +HGNC:35694 RPL21P85 ribosomal protein L21 pseudogene 85 pseudogene pseudogene Approved 9q22.1-q22.3 09q22.1-q22.3 2009-03-06 2009-03-11 100271189 NG_010449 19123937 HGNC:35694 +HGNC:37032 RPL21P86 ribosomal protein L21 pseudogene 86 pseudogene pseudogene Approved 9q22.31 09q22.31 2009-03-06 2009-03-11 100271190 NG_010452 19123937 HGNC:37032 +HGNC:36411 RPL21P87 ribosomal protein L21 pseudogene 87 pseudogene pseudogene Approved 9q31.3 09q31.3 2009-03-06 2009-03-11 100131672 NG_010463 19123937 HGNC:36411 +HGNC:35714 RPL21P88 ribosomal protein L21 pseudogene 88 pseudogene pseudogene Approved 10q11.21 10q11.21 2009-03-06 2016-08-16 100271421 ENSG00000238263 OTTHUMG00000018042 NG_010322 19123937 PGOHUM00000290130 HGNC:35714 +HGNC:36474 RPL21P89 ribosomal protein L21 pseudogene 89 pseudogene pseudogene Approved 10q11.23 10q11.23 2009-03-06 2016-08-17 100271422 ENSG00000229870 OTTHUMG00000157152 NG_010325 19123937 PGOHUM00000290155 HGNC:36474 +HGNC:35548 RPL21P90 ribosomal protein L21 pseudogene 90 pseudogene pseudogene Approved 10q24.1 10q24.1 2009-03-06 2016-08-16 100271423 ENSG00000227805 OTTHUMG00000018821 NG_010332 19123937 HGNC:35548 +HGNC:36450 RPL21P91 ribosomal protein L21 pseudogene 91 pseudogene pseudogene Approved 10q25.1 10q25.1 2009-03-06 2016-08-17 100271424 ENSG00000224907 OTTHUMG00000019027 NG_010338 19123937 PGOHUM00000290279 HGNC:36450 +HGNC:35606 RPL21P92 ribosomal protein L21 pseudogene 92 pseudogene pseudogene Approved 10q21.3 10q21.3 2009-03-06 2016-08-17 100130400 ENSG00000225922 OTTHUMG00000018338 NG_009689 19123937 PGOHUM00000290187 HGNC:35606 +HGNC:35646 RPL21P93 ribosomal protein L21 pseudogene 93 pseudogene pseudogene Approved 10p12.1 10p12.1 2009-03-06 2016-08-17 653665 ENSG00000229605 OTTHUMG00000017879 NG_010505 19123937 HGNC:35646 +HGNC:35568 RPL21P94 ribosomal protein L21 pseudogene 94 pseudogene pseudogene Approved 11p15 11p15 2009-03-06 2009-03-11 100271425 NG_010346 19123937 HGNC:35568 +HGNC:36097 RPL21P95 ribosomal protein L21 pseudogene 95 pseudogene pseudogene Approved 11q14.1 11q14.1 2009-03-06 2009-03-11 100271427 NG_010358 19123937 HGNC:36097 +HGNC:36790 RPL21P96 ribosomal protein L21 pseudogene 96 pseudogene pseudogene Approved 11q22.3 11q22.3 2009-03-06 2009-03-11 100271428 NG_010362 19123937 HGNC:36790 +HGNC:36223 RPL21P97 ribosomal protein L21 pseudogene 97 pseudogene pseudogene Approved 11p15.4 11p15.4 2009-03-06 2009-03-11 387753 NG_010883 19123937 HGNC:36223 +HGNC:36397 RPL21P98 ribosomal protein L21 pseudogene 98 pseudogene pseudogene Approved 12q21.2 12q21.2 2009-03-06 2009-03-11 653079 NG_009659 19123937 HGNC:36397 +HGNC:36628 RPL21P99 ribosomal protein L21 pseudogene 99 pseudogene pseudogene Approved 12p11.22 12p11.22 2009-03-06 2016-11-10 100271429 ENSG00000242986 OTTHUMG00000157515 NG_010366 19123937 PGOHUM00000291272 HGNC:36628 +HGNC:36048 RPL21P100 ribosomal protein L21 pseudogene 100 pseudogene pseudogene Approved 12p13.2 12p13.2 2009-03-06 2009-03-11 100271430 NG_010370 19123937 HGNC:36048 +HGNC:35733 RPL21P101 ribosomal protein L21 pseudogene 101 pseudogene pseudogene Approved 12q12 12q12 2009-03-06 2009-03-11 100271431 NG_010382 19123937 HGNC:35733 +HGNC:36295 RPL21P102 ribosomal protein L21 pseudogene 102 pseudogene pseudogene Approved 12p12.1 12p12.1 2009-03-06 2009-03-11 100271432 NG_010386 19123937 HGNC:36295 +HGNC:36732 RPL21P103 ribosomal protein L21 pseudogene 103 pseudogene pseudogene Approved 12q14.1 12q14.1 2009-03-06 2013-09-23 100271433 ENSG00000241423 OTTHUMG00000157583 NG_010392 19123937 PGOHUM00000239814 HGNC:36732 +HGNC:36918 RPL21P104 ribosomal protein L21 pseudogene 104 pseudogene pseudogene Approved 12q14.1 12q14.1 2009-03-06 2013-02-15 100271435 ENSG00000242922 OTTHUMG00000157593 NG_010402 19123937 PGOHUM00000263569 HGNC:36918 +HGNC:36304 RPL21P105 ribosomal protein L21 pseudogene 105 pseudogene pseudogene Approved 12q24.22 12q24.22 2009-03-06 2009-03-11 728693 NG_009699 19123937 HGNC:36304 +HGNC:36188 RPL21P106 ribosomal protein L21 pseudogene 106 pseudogene pseudogene Approved 12q21.33 12q21.33 2009-03-06 2017-10-30 643264 ENSG00000239201 OTTHUMG00000157668 NG_009728 19123937 PGOHUM00000291763 HGNC:36188 +HGNC:36313 RPL21P107 ribosomal protein L21 pseudogene 107 pseudogene pseudogene Approved 13q34 13q34 2009-03-06 2012-11-15 644627 ENSG00000225239 OTTHUMG00000017348 NG_009801 19123937 PGOHUM00000258717 HGNC:36313 +HGNC:35496 RPL21P108 ribosomal protein L21 pseudogene 108 pseudogene pseudogene Approved 13q22.1 13q22.1 2009-03-06 2010-11-29 100271434 ENSG00000232701 OTTHUMG00000017080 NG_010398 19123937 PGOHUM00000248438 HGNC:35496 +HGNC:36388 RPL21P109 ribosomal protein L21 pseudogene 109 pseudogene pseudogene Approved 13q21.33 13q21.33 2009-03-06 2011-01-14 100271437 ENSG00000237816 OTTHUMG00000017062 NG_010414 19123937 PGOHUM00000248628 HGNC:36388 +HGNC:35627 RPL21P110 ribosomal protein L21 pseudogene 110 pseudogene pseudogene Approved 13q21.33 13q21.33 2009-03-06 2016-10-05 100271438 ENSG00000226617 OTTHUMG00000017067 NG_010419 19123937 PGOHUM00000248630 HGNC:35627 +HGNC:36564 RPL21P111 ribosomal protein L21 pseudogene 111 pseudogene pseudogene Approved 13q31.1 13q31.1 2009-03-06 2013-09-23 100271439 ENSG00000237109 OTTHUMG00000017125 NG_010423 19123937 PGOHUM00000248641 HGNC:36564 +HGNC:36526 RPL21P112 ribosomal protein L21 pseudogene 112 pseudogene pseudogene Approved 13q32.1 13q32.1 2009-03-06 2011-01-14 100270753 ENSG00000237924 OTTHUMG00000017210 NG_009638 19123937 PGOHUM00000248465 HGNC:36526 +HGNC:36563 RPL21P113 ribosomal protein L21 pseudogene 113 pseudogene pseudogene Approved 15q21 15q21 2009-03-06 2009-03-11 100271440 NG_010430 19123937 HGNC:36563 +HGNC:36776 RPL21P114 ribosomal protein L21 pseudogene 114 pseudogene pseudogene Approved 15q22.2 15q22.2 2009-03-06 2009-03-11 100271441 NG_010434 19123937 HGNC:36776 +HGNC:35878 RPL21P115 ribosomal protein L21 pseudogene 115 pseudogene pseudogene Approved 15q22 15q22 2009-03-06 2009-03-11 100271443 NG_010440 19123937 HGNC:35878 +HGNC:36101 RPL21P116 ribosomal protein L21 pseudogene 116 pseudogene pseudogene Approved 15q25.1 15q25.1 2009-03-06 2017-10-30 100271444 ENSG00000243711 OTTHUMG00000158036 NG_010446 19123937 PGOHUM00000293032 HGNC:36101 +HGNC:35987 RPL21P117 ribosomal protein L21 pseudogene 117 pseudogene pseudogene Approved 15q22.2 15q22.2 2009-03-06 2009-03-11 729241 NG_009622 19123937 HGNC:35987 +HGNC:35954 RPL21P118 ribosomal protein L21 pseudogene 118 pseudogene pseudogene Approved 16q22.3 16q22.3 2009-03-06 2009-03-11 100271446 NG_010453 19123937 HGNC:35954 +HGNC:35614 RPL21P119 ribosomal protein L21 pseudogene 119 pseudogene pseudogene Approved 16p13.2 16p13.2 2009-03-06 2017-10-30 653737 ENSG00000220793 OTTHUMG00000158086 NG_010884 19123937 HGNC:35614 +HGNC:35743 RPL21P120 ribosomal protein L21 pseudogene 120 pseudogene pseudogene Approved 17p11.2 17p11.2 2009-03-06 2017-10-30 731688 ENSG00000244582 OTTHUMG00000157750 NG_009668 19123937 PGOHUM00000294336 HGNC:35743 +HGNC:36429 RPL21P121 ribosomal protein L21 pseudogene 121 pseudogene pseudogene Approved 17p11.2 17p11.2 2009-03-06 2017-10-30 100271445 ENSG00000237382 OTTHUMG00000059395 NG_010450 19123937 PGOHUM00000294290 HGNC:36429 +HGNC:36990 RPL21P122 ribosomal protein L21 pseudogene 122 pseudogene pseudogene Approved 17p12 17p12 2009-03-06 2017-10-30 100271447 OTTHUMG00000157743 NG_010456 19123937 PGOHUM00000293959 HGNC:36990 +HGNC:35691 RPL21P123 ribosomal protein L21 pseudogene 123 pseudogene pseudogene Approved 17q11.2 17q11.2 2009-03-06 2017-10-30 100271448 ENSG00000240531 OTTHUMG00000157780 NG_010460 19123937 PGOHUM00000294046 HGNC:35691 +HGNC:36060 RPL21P124 ribosomal protein L21 pseudogene 124 pseudogene pseudogene Approved 17q21 17q21 2009-03-06 2009-03-11 100271450 NG_010469 19123937 HGNC:36060 +HGNC:36039 RPL21P125 ribosomal protein L21 pseudogene 125 pseudogene pseudogene Approved 17p13.3 17p13.3 2009-03-06 2009-03-11 100129685 NG_010788 19123937 HGNC:36039 +HGNC:35959 RPL21P126 ribosomal protein L21 pseudogene 126 pseudogene pseudogene Approved 18q21.2 18q21.2 2009-03-06 2013-09-23 100271449 ENSG00000242320 OTTHUMG00000158252 NG_010465 19123937 PGOHUM00000263628 HGNC:35959 +HGNC:36099 RPL21P127 ribosomal protein L21 pseudogene 127 pseudogene pseudogene Approved 18p11.31 18p11.31 2009-03-06 2017-10-30 100271452 ENSG00000243720 OTTHUMG00000158160 NG_010481 19123937 PGOHUM00000294571 HGNC:36099 +HGNC:36311 RPL21P128 ribosomal protein L21 pseudogene 128 pseudogene pseudogene Approved 18q11.1 18q11.1 2009-03-06 2009-03-11 440487 NG_010871 19123937 HGNC:36311 +HGNC:36747 RPL21P129 ribosomal protein L21 pseudogene 129 pseudogene pseudogene Approved 19p13.2 19p13.2 2009-03-06 2016-07-25 100271451 ENSG00000242636 OTTHUMG00000157980 NG_010476 19123937 PGOHUM00000295176 HGNC:36747 +HGNC:36453 RPL21P130 ribosomal protein L21 pseudogene 130 pseudogene pseudogene Approved 19p13.2 19p13.2 2009-03-06 2009-03-11 100271453 NG_010486 19123937 HGNC:36453 +HGNC:36428 RPL21P131 ribosomal protein L21 pseudogene 131 pseudogene pseudogene Approved 19q13.11 19q13.11 2009-03-06 2016-07-25 388532 ENSG00000232429 OTTHUMG00000158155 NG_010937 19123937 PGOHUM00000294976 HGNC:36428 +HGNC:35865 RPL21P132 ribosomal protein L21 pseudogene 132 pseudogene pseudogene Approved Xq22.1 Xq22.1 2009-03-06 2011-09-20 100271390 ENSG00000183911 OTTHUMG00000022023 NG_010154 19123937 PGOHUM00000241909 HGNC:35865 +HGNC:36003 RPL21P133 ribosomal protein L21 pseudogene 133 pseudogene pseudogene Approved Xq26.3 Xq26.3 2009-03-06 2012-11-15 100271391 ENSG00000236509 OTTHUMG00000022459 NG_010165 19123937 PGOHUM00000258443 HGNC:36003 +HGNC:36006 RPL21P134 ribosomal protein L21 pseudogene 134 pseudogene pseudogene Approved Xq13.3 Xq13.3 2009-03-06 2012-11-15 728782 ENSG00000233254 OTTHUMG00000021865 NG_011068 19123937 PGOHUM00000241859 HGNC:36006 +HGNC:44539 RPL21P135 ribosomal protein L21 pseudogene 135 pseudogene pseudogene Approved 3p22.2 03p22.2 2012-11-15 2013-02-15 100419391 ENSG00000235482 OTTHUMG00000155925 NG_016166 HGNC:44539 +HGNC:49854 RPL21P136 ribosomal protein L21 pseudogene 136 pseudogene pseudogene Approved 12p13.1 12p13.1 2014-03-18 2016-10-05 100419521 ENSG00000271215 OTTHUMG00000184724 NG_023985 PGOHUM00000257937 HGNC:49854 +HGNC:10315 RPL22 ribosomal protein L22 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "EAP|L22" L ribosomal proteins 729 1993-12-09 2014-11-18 6146 ENSG00000116251 OTTHUMG00000000953 uc001amd.4 BC058887 NM_000983 CCDS58 P35268 8395054 MGI:99262 RGD:621189 RPL22 180474 HGNC:10315 "ENST00000234875.9|NM_000983.4" +HGNC:27610 RPL22L1 ribosomal protein L22 like 1 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 ribosomal protein L22-like 1 L ribosomal proteins 729 2005-05-10 2015-11-17 2018-11-19 200916 ENSG00000163584 OTTHUMG00000158957 uc003fhc.5 BC062731 NM_001099645 "CCDS82875|CCDS46955" Q6P5R6 MGI:1915278 RGD:1309517 HGNC:27610 "ENST00000295830.13|NM_001099645.2" +HGNC:17998 RPL22P1 ribosomal protein L22 pseudogene 1 pseudogene pseudogene Approved 3q26.2 03q26.2 2009-03-01 2017-10-23 125371 ENSG00000213178 OTTHUMG00000157287 NG_009515 "8395054|7533526|19123937" HGNC:17998 +HGNC:19794 RPL22P2 ribosomal protein L22 pseudogene 2 pseudogene pseudogene Approved 14q24.3 14q24.3 2009-03-01 2017-10-23 326292 ENSG00000241081 OTTHUMG00000158060 NG_002544 19123937 PGOHUM00000292415 HGNC:19794 +HGNC:36804 RPL22P3 ribosomal protein L22 pseudogene 3 pseudogene pseudogene Approved 1p36.13 01p36.13 2009-03-06 2017-10-23 729662 ENSG00000226457 OTTHUMG00000002215 NG_006651 19123937 PGOHUM00000295570 HGNC:36804 +HGNC:36299 RPL22P4 ribosomal protein L22 pseudogene 4 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2017-10-23 100129102 ENSG00000225483 OTTHUMG00000036118 NG_010420 19123937 PGOHUM00000296023 HGNC:36299 +HGNC:37022 RPL22P5 ribosomal protein L22 pseudogene 5 pseudogene pseudogene Approved 1q21.1 01q21.1 2009-03-06 2017-10-23 100132479 ENSG00000268074 OTTHUMG00000041028 NG_010661 19123937 PGOHUM00000295850 HGNC:37022 +HGNC:36473 RPL22P6 ribosomal protein L22 pseudogene 6 pseudogene pseudogene Approved 1p11.2 01p11.2 2009-03-06 2017-10-23 100132047 ENSG00000268993 OTTHUMG00000040901 NG_011077 19123937 PGOHUM00000295830 HGNC:36473 +HGNC:35602 RPL22P7 ribosomal protein L22 pseudogene 7 pseudogene pseudogene Approved 2q21.1 02q21.1 2009-03-06 2017-10-23 100129819 ENSG00000234559 OTTHUMG00000153488 NG_010140 19123937 PGOHUM00000298100 HGNC:35602 +HGNC:36782 RPL22P8 ribosomal protein L22 pseudogene 8 pseudogene pseudogene Approved 2q12.3 02q12.3 2009-03-06 2017-10-23 100270957 ENSG00000237745 OTTHUMG00000153363 NG_010562 19123937 PGOHUM00000298611 HGNC:36782 +HGNC:36559 RPL22P10 ribosomal protein L22 pseudogene 10 pseudogene pseudogene Approved 2q12.2 02q12.2 2009-03-06 2017-10-23 100128408 ENSG00000213295 OTTHUMG00000153154 NG_010803 19123937 PGOHUM00000298602 HGNC:36559 +HGNC:35603 RPL22P11 ribosomal protein L22 pseudogene 11 pseudogene pseudogene Approved 2q13 02q13 RPL22P15 ribosomal protein L22 pseudogene 15 2009-03-06 2020-04-20 402100 ENSG00000233707 OTTHUMG00000154956 NG_010934 19123937 PGOHUM00000298061 HGNC:35603 +HGNC:36345 RPL22P12 ribosomal protein L22 pseudogene 12 pseudogene pseudogene Approved 2q13 02q13 2009-03-06 2017-10-23 727747 ENSG00000216867 OTTHUMG00000153640 NG_011008 19123937 PGOHUM00000298636 HGNC:36345 +HGNC:36352 RPL22P13 ribosomal protein L22 pseudogene 13 pseudogene pseudogene Approved 4q12 04q12 2009-03-06 2016-10-25 442108 ENSG00000242670 OTTHUMG00000157470 NG_011308 19123937 PGOHUM00000300210 HGNC:36352 +HGNC:35990 RPL22P14 ribosomal protein L22 pseudogene 14 pseudogene pseudogene Approved 6q15 06q15 2009-03-06 2017-10-23 100270960 ENSG00000218300 OTTHUMG00000015208 NG_010576 19123937 PGOHUM00000301885 HGNC:35990 +HGNC:36536 RPL22P16 ribosomal protein L22 pseudogene 16 pseudogene pseudogene Approved 7p22.1 07p22.1 2009-03-06 2017-10-23 100270959 ENSG00000213935 OTTHUMG00000151757 NG_010570 19123937 PGOHUM00000302026 HGNC:36536 +HGNC:36985 RPL22P17 ribosomal protein L22 pseudogene 17 pseudogene pseudogene Approved 10q24.32 10q24.32 2009-03-06 2016-08-17 100271289 ENSG00000235266 OTTHUMG00000018974 NG_010956 19123937 PGOHUM00000289984 HGNC:36985 +HGNC:36232 RPL22P18 ribosomal protein L22 pseudogene 18 pseudogene pseudogene Approved 10q22.3 10q22.3 2009-03-06 2016-08-17 100271290 ENSG00000230171 OTTHUMG00000018603 NG_010959 19123937 PGOHUM00000290219 HGNC:36232 +HGNC:36567 RPL22P19 ribosomal protein L22 pseudogene 19 pseudogene pseudogene Approved 12q24.31 12q24.31 2009-03-06 2017-10-23 644022 ENSG00000241129 OTTHUMG00000157813 NG_010946 19123937 PGOHUM00000291487 HGNC:36567 +HGNC:36281 RPL22P20 ribosomal protein L22 pseudogene 20 pseudogene pseudogene Approved 14q11.2 14q11.2 2009-03-06 2017-10-23 100128664 ENSG00000239200 OTTHUMG00000157631 NG_010804 19123937 PGOHUM00000292543 HGNC:36281 +HGNC:35547 RPL22P21 ribosomal protein L22 pseudogene 21 pseudogene pseudogene Approved 17p12 17p12 2009-03-06 2017-10-23 100271455 ENSG00000233979 OTTHUMG00000059344 NG_010494 19123937 PGOHUM00000294280 HGNC:35547 +HGNC:36109 RPL22P22 ribosomal protein L22 pseudogene 22 pseudogene pseudogene Approved Xq21.1 Xq21.1 2009-03-06 2017-10-23 100130922 ENSG00000213653 OTTHUMG00000021916 NG_010552 19123937 PGOHUM00000304726 HGNC:36109 +HGNC:53759 RPL22P23 ribosomal protein L22 pseudogene 23 pseudogene pseudogene Approved Xq26.3 Xq26.3 2017-10-23 2017-10-23 100289184 ENSG00000232379 OTTHUMG00000040140 NG_030162 PGOHUM00000304876 HGNC:53759 +HGNC:53758 RPL22P24 ribosomal protein L22 pseudogene 24 pseudogene pseudogene Approved 1q25.3 01q25.3 2017-10-23 2017-10-23 2017-10-23 2017-10-23 100129295 ENSG00000231084 OTTHUMG00000057655 NG_030202 PGOHUM00000295988 HGNC:53758 +HGNC:10316 RPL23 ribosomal protein L23 protein-coding gene gene with protein product Approved 17q12 17q12 "rpL17|L23" "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1998-11-30 2015-08-25 9349 ENSG00000125691 OTTHUMG00000133118 uc002hqx.2 X52839 NM_000978 CCDS11330 P62829 1861993 MGI:1929455 RGD:62067 603662 HGNC:10316 "ENST00000479035.7|NM_000978.4" +HGNC:10317 RPL23A ribosomal protein L23a protein-coding gene gene with protein product Approved 17q11.2 17q11.2 L23A "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1997-12-23 2014-11-18 6147 ENSG00000198242 OTTHUMG00000132684 uc002hci.4 U43701 NM_000984 CCDS11241 P62750 9417910 MGI:3040672 RGD:1304897 602326 HGNC:10317 "ENST00000422514.7|NM_000984.6" +HGNC:10318 RPL23AP1 ribosomal protein L23a pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 2009-03-01 2015-03-10 6148 ENSG00000239257 OTTHUMG00000031098 NG_001027 "8662070|19123937" PGOHUM00000301310 HGNC:10318 +HGNC:10319 RPL23AP2 ribosomal protein L23a pseudogene 2 pseudogene pseudogene Approved 19p13.12 19p13.12 2009-03-01 2015-03-10 401904 ENSG00000225067 OTTHUMG00000158039 NG_008068 19123937 PGOHUM00000295222 HGNC:10319 +HGNC:10320 RPL23AP3 ribosomal protein L23a pseudogene 3 pseudogene pseudogene Approved 21q22.12 21q22.12 2009-03-01 2015-03-10 8489 ENSG00000214914 OTTHUMG00000086467 NG_000878 "9740676|19123937" PGOHUM00000297257 HGNC:10320 +HGNC:10321 RPL23AP4 ribosomal protein L23a pseudogene 4 pseudogene pseudogene Approved 21q22.3 21q22.3 2009-03-01 2015-03-10 54029 ENSG00000212932 OTTHUMG00000090714 NG_000910 19123937 PGOHUM00000297392 HGNC:10321 +HGNC:14194 RPL23AP5 ribosomal protein L23a pseudogene 5 pseudogene pseudogene Approved 16p13.3 16p13.3 2009-03-01 2015-03-10 729480 Z97634 NG_006537 19123937 PGOHUM00000293683 HGNC:14194 +HGNC:16555 RPL23AP6 ribosomal protein L23a pseudogene 6 pseudogene pseudogene Approved 20p12.2 20p12.2 dJ1068F16.1 2009-03-01 2015-03-10 128709 ENSG00000214835 OTTHUMG00000031864 NG_000971 19123937 PGOHUM00000296896 HGNC:16555 +HGNC:17336 RPL23AP7 ribosomal protein L23a pseudogene 7 pseudogene pseudogene Approved 2q14.1 02q14.1 "RPL23AL1|bA395L14.9" 2009-03-01 2015-03-10 118433 ENSG00000240356 OTTHUMG00000047825 BC000596 NR_000029 19123937 PGOHUM00000298080 HGNC:17336 +HGNC:23543 RPL23AP8 ribosomal protein L23a pseudogene 8 pseudogene pseudogene Approved 14q13.1 14q13.1 RPL23AP9 ribosomal protein L23a pseudogene 9 2009-03-01 2015-03-10 641614 ENSG00000241582 OTTHUMG00000158037 AL355885 NG_006076 19123937 PGOHUM00000292619 HGNC:23543 +HGNC:19804 RPL23AP10 ribosomal protein L23a pseudogene 10 pseudogene pseudogene Approved 14q32.2 14q32.2 2009-03-01 2015-03-10 326293 ENSG00000240051 OTTHUMG00000158127 NG_002545 19123937 PGOHUM00000292443 HGNC:19804 +HGNC:19808 RPL23AP11 ribosomal protein L23a pseudogene 11 pseudogene pseudogene Approved 14q32.31 14q32.31 2009-03-01 2015-03-10 326294 ENSG00000230988 OTTHUMG00000158134 NG_002546 19123937 PGOHUM00000292450 HGNC:19808 +HGNC:23840 RPL23AP12 ribosomal protein L23a pseudogene 12 pseudogene pseudogene Approved 21q22.2 21q22.2 2009-03-01 2015-03-10 391282 ENSG00000228861 OTTHUMG00000066031 NG_009514 19123937 PGOHUM00000297382 HGNC:23840 +HGNC:21007 RPL23AP14 ribosomal protein L23a pseudogene 14 pseudogene pseudogene Approved 12p13.33 12p13.33 2009-03-01 2015-03-10 341511 ENSG00000224438 OTTHUMG00000157381 AC005841 NG_006950 19123937 PGOHUM00000291508 HGNC:21007 +HGNC:36486 RPL23AP15 ribosomal protein L23a pseudogene 15 pseudogene pseudogene Approved 1q42.13 01q42.13 2009-03-06 2015-03-10 391175 ENSG00000230841 OTTHUMG00000040047 NG_006072 19123937 PGOHUM00000296090 HGNC:36486 +HGNC:36652 RPL23AP16 ribosomal protein L23a pseudogene 16 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2015-03-10 647201 ENSG00000228190 OTTHUMG00000035886 NG_009787 19123937 PGOHUM00000296714 HGNC:36652 +HGNC:35904 RPL23AP17 ribosomal protein L23a pseudogene 17 pseudogene pseudogene Approved 1p34.2 01p34.2 2009-03-06 2015-03-10 100271138 ENSG00000215893 OTTHUMG00000005717 NG_010181 19123937 PGOHUM00000296296 HGNC:35904 +HGNC:36726 RPL23AP18 ribosomal protein L23a pseudogene 18 pseudogene pseudogene Approved 1q32.3 01q32.3 2009-03-06 2015-03-10 728134 ENSG00000225338 OTTHUMG00000036748 NG_006077 19123937 PGOHUM00000296035 HGNC:36726 +HGNC:36708 RPL23AP19 ribosomal protein L23a pseudogene 19 pseudogene pseudogene Approved 1p36.23 01p36.23 2009-03-06 2015-03-10 100131143 ENSG00000229716 OTTHUMG00000001780 NG_009753 19123937 PGOHUM00000296203 HGNC:36708 +HGNC:36622 RPL23AP20 ribosomal protein L23a pseudogene 20 pseudogene pseudogene Approved 1q43 01q43 2009-03-06 2015-03-10 645962 ENSG00000235990 OTTHUMG00000040031 NG_009606 19123937 PGOHUM00000296837 HGNC:36622 +HGNC:35827 RPL23AP21 ribosomal protein L23a pseudogene 21 pseudogene pseudogene Approved 1p36.33 01p36.33 2009-03-06 2015-03-10 728481 ENSG00000241670 OTTHUMG00000002552 NG_009563 19123937 PGOHUM00000295510 HGNC:35827 +HGNC:35505 RPL23AP22 ribosomal protein L23a pseudogene 22 pseudogene pseudogene Approved 1q31.2 01q31.2 2009-03-06 2015-03-10 100271291 ENSG00000237213 OTTHUMG00000035691 NG_010963 19123937 PGOHUM00000296003 HGNC:35505 +HGNC:36272 RPL23AP23 ribosomal protein L23a pseudogene 23 pseudogene pseudogene Approved 1q42.3 01q42.3 2009-03-06 2015-03-10 100271292 ENSG00000236863 OTTHUMG00000039622 NG_010968 19123937 PGOHUM00000296816 HGNC:36272 +HGNC:36176 RPL23AP24 ribosomal protein L23a pseudogene 24 pseudogene pseudogene Approved 1p36.33 01p36.33 2009-03-06 2015-03-10 728517 ENSG00000236679 OTTHUMG00000002854 NG_011020 19123937 PGOHUM00000295512 HGNC:36176 +HGNC:35672 RPL23AP25 ribosomal protein L23a pseudogene 25 pseudogene pseudogene Approved 1q44 01q44 2009-03-06 2015-03-10 653789 ENSG00000233084 OTTHUMG00000040422 NG_011146 19123937 PGOHUM00000296872 HGNC:35672 +HGNC:35592 RPL23AP26 ribosomal protein L23a pseudogene 26 pseudogene pseudogene Approved 2q37.1 02q37.1 2009-03-06 2015-03-10 391490 ENSG00000228884 OTTHUMG00000153865 NG_010355 19123937 PGOHUM00000298905 HGNC:35592 +HGNC:36497 RPL23AP27 ribosomal protein L23a pseudogene 27 pseudogene pseudogene Approved 2q12.1 02q12.1 2009-03-06 2015-03-10 100271456 ENSG00000225669 OTTHUMG00000153053 NG_010498 19123937 PGOHUM00000298599 HGNC:36497 +HGNC:36727 RPL23AP28 ribosomal protein L23a pseudogene 28 pseudogene pseudogene Approved 2q36.1 02q36.1 2009-03-06 2015-03-10 100271457 ENSG00000226331 OTTHUMG00000153405 NG_010502 19123937 PGOHUM00000298326 HGNC:36727 +HGNC:36355 RPL23AP29 ribosomal protein L23a pseudogene 29 pseudogene pseudogene Approved 2q23.3 02q23.3 2009-03-06 2015-03-10 100271458 ENSG00000214024 OTTHUMG00000153823 NG_010509 19123937 PGOHUM00000298761 HGNC:36355 +HGNC:35617 RPL23AP30 ribosomal protein L23a pseudogene 30 pseudogene pseudogene Approved 2q33.1 02q33.1 2009-03-06 2015-03-10 100271459 ENSG00000226658 OTTHUMG00000154712 NG_010512 19123937 PGOHUM00000298831 HGNC:35617 +HGNC:35777 RPL23AP31 ribosomal protein L23a pseudogene 31 pseudogene pseudogene Approved 2q35 02q35 2009-03-06 2015-03-10 100271460 ENSG00000232625 OTTHUMG00000154686 NG_010518 19123937 PGOHUM00000298881 HGNC:35777 +HGNC:25345 RPL23AP32 ribosomal protein L23a pseudogene 32 pseudogene pseudogene Approved 2p16.2 02p16.2 DKFZp547I014 2009-03-12 2021-10-07 56969 ENSG00000237887 OTTHUMG00000152036 NR_002229 19123937 PGOHUM00000298439 HGNC:25345 +HGNC:36946 RPL23AP33 ribosomal protein L23a pseudogene 33 pseudogene pseudogene Approved 2q32.1 02q32.1 2009-03-06 2015-03-10 100271293 ENSG00000237824 OTTHUMG00000153924 NG_010972 19123937 PGOHUM00000298252 HGNC:36946 +HGNC:36035 RPL23AP34 ribosomal protein L23a pseudogene 34 pseudogene pseudogene Approved 2p23.2 02p23.2 2009-03-06 2015-03-10 100271294 ENSG00000225991 OTTHUMG00000157055 NG_010979 19123937 PGOHUM00000298405 HGNC:36035 +HGNC:36580 RPL23AP35 ribosomal protein L23a pseudogene 35 pseudogene pseudogene Approved 2q32.1 02q32.1 2009-03-06 2015-03-10 100271295 ENSG00000232568 OTTHUMG00000154255 NG_010987 19123937 PGOHUM00000298256 HGNC:36580 +HGNC:35685 RPL23AP36 ribosomal protein L23a pseudogene 36 pseudogene pseudogene Approved 2q33.2 02q33.2 2009-03-06 2015-03-10 100271296 ENSG00000225124 OTTHUMG00000154573 NG_010993 19123937 PGOHUM00000298289 HGNC:35685 +HGNC:35664 RPL23AP37 ribosomal protein L23a pseudogene 37 pseudogene pseudogene Approved 2p14 02p14 2009-03-06 2015-03-10 130773 ENSG00000236148 OTTHUMG00000152669 NG_011103 19123937 PGOHUM00000297893 HGNC:35664 +HGNC:36351 RPL23AP38 ribosomal protein L23a pseudogene 38 pseudogene pseudogene Approved 3p26.3 03p26.3 2009-03-06 2015-03-10 391504 ENSG00000184423 OTTHUMG00000154860 NG_010432 19123937 PGOHUM00000298932 HGNC:36351 +HGNC:36470 RPL23AP39 ribosomal protein L23a pseudogene 39 pseudogene pseudogene Approved 3p26.3 03p26.3 2009-03-06 2015-03-10 100271461 ENSG00000214074 OTTHUMG00000154859 NG_010521 19123937 PGOHUM00000299329 HGNC:36470 +HGNC:35587 RPL23AP40 ribosomal protein L23a pseudogene 40 pseudogene pseudogene Approved 3q22.3 03q22.3 2009-03-06 2015-03-10 100271462 ENSG00000242321 OTTHUMG00000157382 NG_010526 19123937 PGOHUM00000299611 HGNC:35587 +HGNC:35634 RPL23AP41 ribosomal protein L23a pseudogene 41 pseudogene pseudogene Approved 3q23 03q23 2009-03-06 2015-03-10 646685 ENSG00000224085 OTTHUMG00000157383 NG_010152 19123937 PGOHUM00000299614 HGNC:35634 +HGNC:35942 RPL23AP42 ribosomal protein L23a pseudogene 42 pseudogene pseudogene Approved 3q26.1 03q26.1 2009-03-06 2015-03-10 647099 ENSG00000234851 OTTHUMG00000159072 NG_010965 19123937 PGOHUM00000299255 HGNC:35942 +HGNC:35751 RPL23AP43 ribosomal protein L23a pseudogene 43 pseudogene pseudogene Approved 3p22.3 03p22.3 2009-03-06 2015-03-10 389101 ENSG00000227337 OTTHUMG00000155776 NG_011232 19123937 PGOHUM00000299392 HGNC:35751 +HGNC:35955 RPL23AP44 ribosomal protein L23a pseudogene 44 pseudogene pseudogene Approved 5q23.1 05q23.1 2009-03-06 2015-03-10 391825 ENSG00000244088 OTTHUMG00000157833 NG_010762 19123937 PGOHUM00000300733 HGNC:35955 +HGNC:36896 RPL23AP45 ribosomal protein L23a pseudogene 45 pseudogene pseudogene Approved 5q35.3 05q35.3 2009-03-06 2015-03-10 729764 ENSG00000213285 OTTHUMG00000157971 NG_010858 19123937 PGOHUM00000301226 HGNC:36896 +HGNC:35894 RPL23AP46 ribosomal protein L23a pseudogene 46 pseudogene pseudogene Approved 6q23.2 06q23.2 2009-03-06 2015-03-10 442260 ENSG00000213122 OTTHUMG00000015596 NG_010780 19123937 PGOHUM00000301555 HGNC:35894 +HGNC:36576 RPL23AP47 ribosomal protein L23a pseudogene 47 pseudogene pseudogene Approved 6q27 06q27 2009-03-06 2015-03-10 729277 ENSG00000219814 OTTHUMG00000016091 NG_010975 19123937 PGOHUM00000302022 HGNC:36576 +HGNC:36110 RPL23AP48 ribosomal protein L23a pseudogene 48 pseudogene pseudogene Approved 6q22.31 06q22.31 2009-03-06 2015-03-10 728567 ENSG00000219135 OTTHUMG00000015483 NG_011281 19123937 PGOHUM00000301527 HGNC:36110 +HGNC:35689 RPL23AP49 ribosomal protein L23a pseudogene 49 pseudogene pseudogene Approved 3p12.3 03p12.3 2009-03-06 2015-03-10 653236 ENSG00000243422 OTTHUMG00000157322 NG_011379 19123937 PGOHUM00000299073 HGNC:35689 +HGNC:35958 RPL23AP50 ribosomal protein L23a pseudogene 50 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2015-03-10 728106 ENSG00000232778 OTTHUMG00000015314 NG_011358 19123937 PGOHUM00000301907 HGNC:35958 +HGNC:36040 RPL23AP51 ribosomal protein L23a pseudogene 51 pseudogene pseudogene Approved 7p21.3 07p21.3 2009-03-06 2015-03-10 100271464 ENSG00000269721 OTTHUMG00000182603 NG_010537 19123937 PGOHUM00000302042 HGNC:36040 +HGNC:36723 RPL23AP52 ribosomal protein L23a pseudogene 52 pseudogene pseudogene Approved 7p21.3 07p21.3 2009-03-06 2015-03-10 100271465 ENSG00000230370 OTTHUMG00000152347 NG_010541 19123937 PGOHUM00000302045 HGNC:36723 +HGNC:35921 RPL23AP53 ribosomal protein L23a pseudogene 53 pseudogene pseudogene Approved 8p23.3 08p23.3 2009-03-06 2015-03-10 644128 ENSG00000223508 OTTHUMG00000163943 NR_003572 19123937 PGOHUM00000303042 HGNC:35921 +HGNC:36689 RPL23AP54 ribosomal protein L23a pseudogene 54 pseudogene pseudogene Approved 8p23.2 08p23.2 2009-03-06 2015-03-10 100271466 ENSG00000240486 OTTHUMG00000158103 NG_010550 19123937 PGOHUM00000303405 HGNC:36689 +HGNC:35997 RPL23AP55 ribosomal protein L23a pseudogene 55 pseudogene pseudogene Approved 8p21.3 08p21.3 2009-03-06 2015-03-10 100271467 ENSG00000243265 OTTHUMG00000158583 NG_010555 19123937 PGOHUM00000303481 HGNC:35997 +HGNC:35516 RPL23AP56 ribosomal protein L23a pseudogene 56 pseudogene pseudogene Approved 8q24.22 08q24.22 2009-03-06 2015-03-10 645809 ENSG00000244413 OTTHUMG00000158697 NG_011378 19123937 PGOHUM00000303381 HGNC:35516 +HGNC:36971 RPL23AP57 ribosomal protein L23a pseudogene 57 pseudogene pseudogene Approved 9p24.1 09p24.1 2009-03-06 2015-03-10 648294 ENSG00000206147 OTTHUMG00000019525 NG_010529 19123937 PGOHUM00000304099 HGNC:36971 +HGNC:36138 RPL23AP58 ribosomal protein L23a pseudogene 58 pseudogene pseudogene Approved 10q24.32 10q24.32 2009-03-06 2015-03-10 100271616 ENSG00000228657 OTTHUMG00000018963 NG_009956 19123937 PGOHUM00000289982 HGNC:36138 +HGNC:36920 RPL23AP59 ribosomal protein L23a pseudogene 59 pseudogene pseudogene Approved 10q25.1 10q25.1 2009-03-06 2015-03-10 100271618 ENSG00000215002 OTTHUMG00000019017 NG_009967 19123937 PGOHUM00000290272 HGNC:36920 +HGNC:35966 RPL23AP60 ribosomal protein L23a pseudogene 60 pseudogene pseudogene Approved 10q26.3 10q26.3 2009-03-06 2015-03-10 728933 ENSG00000213147 OTTHUMG00000019340 NG_010522 19123937 PGOHUM00000290327 HGNC:35966 +HGNC:36016 RPL23AP61 ribosomal protein L23a pseudogene 61 pseudogene pseudogene Approved 10q11.22 10q11.22 2009-03-06 2016-08-16 728484 ENSG00000280012 OTTHUMG00000191379 NG_010857 19123937 PGOHUM00000290140 HGNC:36016 +HGNC:36276 RPL23AP62 ribosomal protein L23a pseudogene 62 pseudogene pseudogene Approved 11q23.1 11q23.1 2009-03-06 2015-03-10 100271617 ENSG00000213233 OTTHUMG00000158461 NG_009961 19123937 PGOHUM00000290709 HGNC:36276 +HGNC:35502 RPL23AP63 ribosomal protein L23a pseudogene 63 pseudogene pseudogene Approved 11p11.2 11p11.2 2009-03-06 2015-03-10 729798 ENSG00000243721 OTTHUMG00000158373 NG_011026 19123937 PGOHUM00000290885 HGNC:35502 +HGNC:36552 RPL23AP64 ribosomal protein L23a pseudogene 64 pseudogene pseudogene Approved 11q23.3 11q23.3 2009-03-06 2015-03-10 649946 ENSG00000240970 OTTHUMG00000158473 NR_003040 19123937 PGOHUM00000290722 HGNC:36552 +HGNC:36289 RPL23AP65 ribosomal protein L23a pseudogene 65 pseudogene pseudogene Approved 11p15.4 11p15.4 2009-03-06 2015-03-10 440027 ENSG00000243964 OTTHUMG00000158304 NG_011129 19123937 PGOHUM00000290818 HGNC:36289 +HGNC:35940 RPL23AP66 ribosomal protein L23a pseudogene 66 pseudogene pseudogene Approved 12p13.2 12p13.2 2009-03-06 2015-03-10 100271620 ENSG00000243141 OTTHUMG00000157461 NG_009979 19123937 PGOHUM00000291557 HGNC:35940 +HGNC:36658 RPL23AP67 ribosomal protein L23a pseudogene 67 pseudogene pseudogene Approved 12q24.33 12q24.33 2009-03-06 2015-03-10 100271622 ENSG00000240991 OTTHUMG00000157851 NG_009994 19123937 PGOHUM00000291841 HGNC:36658 +HGNC:35489 RPL23AP68 ribosomal protein L23a pseudogene 68 pseudogene pseudogene Approved 12q21.32 12q21.32 2009-03-06 2015-03-10 100130555 ENSG00000242850 OTTHUMG00000157656 NG_011302 19123937 PGOHUM00000291422 HGNC:35489 +HGNC:36625 RPL23AP69 ribosomal protein L23a pseudogene 69 pseudogene pseudogene Approved 13q12.13 13q12.13 2009-03-06 2015-03-26 100271623 ENSG00000235315 OTTHUMG00000016600 NG_010001 19123937 PGOHUM00000292108 HGNC:36625 +HGNC:36030 RPL23AP70 ribosomal protein L23a pseudogene 70 pseudogene pseudogene Approved 14q13.2 14q13.2 2009-03-06 2015-03-27 100271619 ENSG00000241052 OTTHUMG00000157752 NG_009974 19123937 PGOHUM00000292320 HGNC:36030 +HGNC:36908 RPL23AP71 ribosomal protein L23a pseudogene 71 pseudogene pseudogene Approved 14q13.1 14q13.1 2009-03-06 2015-03-27 644384 ENSG00000237450 OTTHUMG00000157728 NG_010173 19123937 PGOHUM00000292617 HGNC:36908 +HGNC:35736 RPL23AP72 ribosomal protein L23a pseudogene 72 pseudogene pseudogene Approved 16q12.1 16q12.1 2009-03-06 2015-03-10 100271621 ENSG00000239840 OTTHUMG00000158136 NG_009986 19123937 PGOHUM00000293596 HGNC:35736 +HGNC:36443 RPL23AP73 ribosomal protein L23a pseudogene 73 pseudogene pseudogene Approved 17p13.1 17p13.1 2009-03-06 2015-03-10 100271625 ENSG00000244283 OTTHUMG00000157675 NG_010014 19123937 PGOHUM00000294259 HGNC:36443 +HGNC:36148 RPL23AP74 ribosomal protein L23a pseudogene 74 pseudogene pseudogene Approved 17q23.2 17q23.2 2009-03-06 2015-03-10 729617 ENSG00000227694 OTTHUMG00000132323 NG_010068 19123937 PGOHUM00000294503 HGNC:36148 +HGNC:35975 RPL23AP75 ribosomal protein L23a pseudogene 75 pseudogene pseudogene Approved 17q21.2 17q21.2 2009-03-06 2015-03-10 728207 ENSG00000240125 OTTHUMG00000157840 NG_010749 19123937 PGOHUM00000294111 HGNC:35975 +HGNC:36555 RPL23AP76 ribosomal protein L23a pseudogene 76 pseudogene pseudogene Approved 17p12 17p12 2009-03-06 2015-03-10 441781 ENSG00000226156 OTTHUMG00000058805 NG_010940 19123937 PGOHUM00000293961 HGNC:36555 +HGNC:36354 RPL23AP77 ribosomal protein L23a pseudogene 77 pseudogene pseudogene Approved 18q11.2 18q11.2 2009-03-06 2015-03-10 728538 ENSG00000267301 OTTHUMG00000158183 NG_011124 19123937 PGOHUM00000294626 HGNC:36354 +HGNC:35518 RPL23AP78 ribosomal protein L23a pseudogene 78 pseudogene pseudogene Approved 19p13.2 19p13.2 2009-03-06 2015-03-10 100271624 ENSG00000269244 OTTHUMG00000157985 NG_010009 19123937 PGOHUM00000294856 HGNC:35518 +HGNC:36226 RPL23AP79 ribosomal protein L23a pseudogene 79 pseudogene pseudogene Approved 19q13.43 19q13.43 2009-03-06 2015-03-10 100271626 OTTHUMG00000158344 NG_010019 19123937 PGOHUM00000295500 HGNC:36226 +HGNC:36956 RPL23AP80 ribosomal protein L23a pseudogene 80 pseudogene pseudogene Approved 19q13.33 19q13.33 2009-03-06 2015-03-10 390949 ENSG00000213035 OTTHUMG00000158216 NG_010201 19123937 PGOHUM00000295056 HGNC:36956 +HGNC:36246 RPL23AP81 ribosomal protein L23a pseudogene 81 pseudogene pseudogene Approved 20q12 20q12 2009-03-06 2015-03-10 100271627 ENSG00000242748 OTTHUMG00000032477 NG_010024 19123937 PGOHUM00000297119 HGNC:36246 +HGNC:33730 RPL23AP82 ribosomal protein L23a pseudogene 82 pseudogene pseudogene Approved 22q13.33 22q13.33 MGC70863 2009-03-12 2015-03-10 284942 ENSG00000184319 OTTHUMG00000150154 NR_026981 19123937 PGOHUM00000297785 HGNC:33730 +HGNC:35846 RPL23AP83 ribosomal protein L23a pseudogene 83 pseudogene pseudogene Approved Xp11.21 Xp11.21 2009-03-06 2015-03-10 100131846 ENSG00000234135 OTTHUMG00000021665 NG_009997 19123937 PGOHUM00000304653 HGNC:35846 +HGNC:51575 RPL23AP84 ribosomal protein L23a pseudogene 84 pseudogene pseudogene Approved 4q35.2 04q35.2 2015-03-10 2015-03-10 102723981 ENSG00000261914 OTTHUMG00000179679 NG_044938 PGOHUM00000300471 HGNC:51575 +HGNC:51576 RPL23AP85 ribosomal protein L23a pseudogene 85 pseudogene pseudogene Approved 1p32.2 01p32.2 2015-03-10 2015-03-10 100419650 ENSG00000224980 OTTHUMG00000008328 NG_026942 PGOHUM00000295692 HGNC:51576 +HGNC:51577 RPL23AP86 ribosomal protein L23a pseudogene 86 pseudogene pseudogene Approved 16p13.3 16p13.3 2015-03-10 2015-03-10 100507357 ENSG00000262959 OTTHUMG00000177365 PGOHUM00000293399 HGNC:51577 +HGNC:51578 RPL23AP87 ribosomal protein L23a pseudogene 87 pseudogene pseudogene Approved 17q25.3 17q25.3 2015-03-10 2015-03-10 388574 ENSG00000232938 OTTHUMG00000177777 NR_029406 PGOHUM00000294559 HGNC:51578 +HGNC:51579 RPL23AP88 ribosomal protein L23a pseudogene 88 pseudogene pseudogene Approved 2q37.3 02q37.3 2015-03-10 2015-03-10 100289034 ENSG00000271153 OTTHUMG00000184343 NG_030145 PGOHUM00000298928 HGNC:51579 +HGNC:51623 RPL23AP89 ribosomal protein L23a pseudogene 89 pseudogene pseudogene Approved 1p36.22 01p36.22 2015-03-26 2020-04-06 106480336 ENSG00000227875 OTTHUMG00000001828 NG_044550 PGOHUM00000295546 HGNC:51623 +HGNC:51624 RPL23AP90 ribosomal protein L23a pseudogene 90 pseudogene pseudogene Approved 1p21.2 01p21.2 2015-03-26 2020-04-06 106480690 ENSG00000271415 OTTHUMG00000184296 NG_043328 PGOHUM00000296421 HGNC:51624 +HGNC:51625 RPL23AP91 ribosomal protein L23a pseudogene 91 pseudogene pseudogene Approved 16q21 16q21 2015-03-27 2020-04-06 106480337 ENSG00000260965 OTTHUMG00000175519 NG_044558 PGOHUM00000293878 HGNC:51625 +HGNC:51627 RPL23AP92 ribosomal protein L23a pseudogene 92 pseudogene pseudogene Approved 2p13.3 02p13.3 2015-03-27 2020-04-06 106481731 ENSG00000270723 OTTHUMG00000184498 NG_045056 PGOHUM00000297907 HGNC:51627 +HGNC:51628 RPL23AP93 ribosomal protein L23a pseudogene 93 pseudogene pseudogene Approved 3q29 03q29 2015-03-27 2015-03-27 100288802 ENSG00000232873 OTTHUMG00000156036 NG_029145 PGOHUM00000299313 HGNC:51628 +HGNC:51629 RPL23AP94 ribosomal protein L23a pseudogene 94 pseudogene pseudogene Approved 4q25 04q25 2015-03-27 2020-04-06 106481971 ENSG00000248439 OTTHUMG00000161131 NG_043341 PGOHUM00000299957 HGNC:51629 +HGNC:51630 RPL23AP95 ribosomal protein L23a pseudogene 95 pseudogene pseudogene Approved 7q22.1 07q22.1 2015-03-27 2020-04-06 106480338 ENSG00000236848 OTTHUMG00000157203 NG_045181 PGOHUM00000302382 HGNC:51630 +HGNC:51631 RPL23AP96 ribosomal protein L23a pseudogene 96 pseudogene pseudogene Approved 8p23.1 08p23.1 2015-03-27 2015-03-27 392181 ENSG00000250752 OTTHUMG00000160431 NG_022379 PGOHUM00000303049 HGNC:51631 +HGNC:51632 RPL23AP97 ribosomal protein L23a pseudogene 97 pseudogene pseudogene Approved 13q34 13q34 2015-03-27 2015-03-27 102723647 ENSG00000260615 OTTHUMG00000175625 PGOHUM00000292248 HGNC:51632 +HGNC:10324 RPL23P2 ribosomal protein L23 pseudogene 2 pseudogene pseudogene Approved 21q21.3 21q21.3 2009-03-01 2016-10-05 54028 ENSG00000176054 OTTHUMG00000078804 NG_000909 19123937 PGOHUM00000239060 HGNC:10324 +HGNC:35988 RPL23P3 ribosomal protein L23 pseudogene 3 pseudogene pseudogene Approved 1p31.1 01p31.1 2009-03-06 2009-03-11 100130630 NG_010377 19123937 HGNC:35988 +HGNC:36678 RPL23P4 ribosomal protein L23 pseudogene 4 pseudogene pseudogene Approved 2q35 02q35 2009-03-06 2013-09-23 100270961 ENSG00000223903 OTTHUMG00000059375 NG_010580 19123937 PGOHUM00000241114 HGNC:36678 +HGNC:35747 RPL23P5 ribosomal protein L23 pseudogene 5 pseudogene pseudogene Approved 2q36.1 02q36.1 2009-03-06 2020-01-08 402120 ENSG00000230406 NG_011036 19123937 HGNC:35747 +HGNC:35554 RPL23P6 ribosomal protein L23 pseudogene 6 pseudogene pseudogene Approved 6p21.2 06p21.2 2009-03-06 2009-03-11 646949 NG_010199 19123937 HGNC:35554 +HGNC:36215 RPL23P7 ribosomal protein L23 pseudogene 7 pseudogene pseudogene Approved 7p15.2 07p15.2 2009-03-06 2009-03-11 442659 NG_009403 19123937 HGNC:36215 +HGNC:36225 RPL23P8 ribosomal protein L23 pseudogene 8 pseudogene pseudogene Approved 7p15.3 07p15.3 2009-03-06 2010-06-16 222901 ENSG00000219451 NR_026673 19123937 HGNC:36225 +HGNC:36853 RPL23P9 ribosomal protein L23 pseudogene 9 pseudogene pseudogene Approved 8q22.3 08q22.3 2009-03-06 2009-03-11 100129377 NG_010503 19123937 HGNC:36853 +HGNC:36177 RPL23P10 ribosomal protein L23 pseudogene 10 pseudogene pseudogene Approved 8p12 08p12 2009-03-06 2013-09-23 100270962 ENSG00000244708 OTTHUMG00000158595 NG_010585 19123937 PGOHUM00000249296 HGNC:36177 +HGNC:36457 RPL23P11 ribosomal protein L23 pseudogene 11 pseudogene pseudogene Approved 10p11.22 10p11.22 2009-03-06 2013-09-23 100271297 ENSG00000226407 OTTHUMG00000017941 NG_010998 19123937 PGOHUM00000238719 HGNC:36457 +HGNC:10325 RPL24 ribosomal protein L24 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 L24 L ribosomal proteins 729 1998-07-24 2016-10-05 6152 ENSG00000114391 OTTHUMG00000159146 uc003dvh.2 AB007177 NM_000986 CCDS33809 P83731 9582194 MGI:1915443 RGD:621191 604180 HGNC:10325 "ENST00000394077.8|NM_000986.4" +HGNC:16597 RPL24P2 RPL24 pseudogene 2 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ872K7.2 ribosomal protein L24 pseudogene 2 2009-03-01 2020-04-17 2020-04-17 140760 ENSG00000235065 OTTHUMG00000032015 NG_001003 19123937 PGOHUM00000297067 HGNC:16597 +HGNC:19784 RPL24P3 RPL24 pseudogene 3 pseudogene pseudogene Approved 14q24.1 14q24.1 ribosomal protein L24 pseudogene 3 2009-03-01 2020-04-17 2020-04-17 145235 NG_002525 19123937 HGNC:19784 +HGNC:21371 RPL24P4 RPL24 pseudogene 4 pseudogene pseudogene Approved 6p21.1 06p21.1 dJ125M3.1 ribosomal protein L24 pseudogene 4 2009-03-01 2020-04-17 2020-04-17 377381 ENSG00000181524 OTTHUMG00000014711 AL158815 NG_008396 19123937 HGNC:21371 +HGNC:36102 RPL24P5 RPL24 pseudogene 5 pseudogene pseudogene Approved 1q31.3 01q31.3 ribosomal protein L24 pseudogene 5 2009-03-06 2020-04-17 2020-04-17 100129017 NG_011292 19123937 HGNC:36102 +HGNC:36637 RPL24P6 RPL24 pseudogene 6 pseudogene pseudogene Approved 3q29 03q29 ribosomal protein L24 pseudogene 6 2009-03-06 2020-04-17 2020-04-17 100129808 NG_009582 19123937 HGNC:36637 +HGNC:36862 RPL24P7 RPL24 pseudogene 7 pseudogene pseudogene Approved 3p24.3 03p24.3 ribosomal protein L24 pseudogene 7 2009-03-06 2020-04-17 2020-04-17 100270963 ENSG00000215016 OTTHUMG00000155609 NG_010593 19123937 PGOHUM00000237960 HGNC:36862 +HGNC:36409 RPL24P8 RPL24 pseudogene 8 pseudogene pseudogene Approved 9q21.12 09q21.12 ribosomal protein L24 pseudogene 8 2009-03-06 2020-04-17 2020-04-17 100270964 ENSG00000236801 OTTHUMG00000019989 NG_010599 19123937 PGOHUM00000236635 HGNC:36409 +HGNC:54886 RPL24P9 RPL24 pseudogene 9 pseudogene pseudogene Approved Xp22.33 Xp22.33 2020-04-17 2020-04-17 100129487 ENSG00000225722 NG_009838 +HGNC:10327 RPL26 ribosomal protein L26 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 L26 L ribosomal proteins 729 1993-06-15 2021-05-26 6154 ENSG00000161970 OTTHUMG00000108191 uc002glh.2 NM_000987 CCDS11142 P61254 8479925 MGI:106022 RGD:1310607 LRG_1125|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1125.xml 603704 317572 HGNC:10327 "ENST00000648839.1|NM_000987.5" HGNC:10327 +HGNC:17050 RPL26L1 ribosomal protein L26 like 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 RPL26P1 "ribosomal protein L26 pseudogene 1|ribosomal protein L26-like 1" L ribosomal proteins 729 2001-10-19 2001-12-14 2015-11-17 2016-10-05 51121 ENSG00000037241 OTTHUMG00000130517 uc063jsl.1 AF083248 NM_016093 CCDS4382 Q9UNX3 11042152 HGNC:17050 "ENST00000265100.6|NM_016093.4" +HGNC:55914 RPL26L1-AS1 RPL26L1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.1 05q35.1 Antisense RNAs 1987 2021-10-08 2021-10-08 100268168 ENSG00000204758 NR_026682 +HGNC:19773 RPL26P2 ribosomal protein L26 pseudogene 2 pseudogene pseudogene Approved 14q11.2 14q11.2 2009-03-01 2014-11-19 326297 NG_002549 19123937 HGNC:19773 +HGNC:19776 RPL26P3 ribosomal protein L26 pseudogene 3 pseudogene pseudogene Approved 14q12 14q12 2009-03-01 2017-10-30 326298 ENSG00000240179 OTTHUMG00000157685 NG_002550 19123937 PGOHUM00000292608 HGNC:19776 +HGNC:19807 RPL26P4 ribosomal protein L26 pseudogene 4 pseudogene pseudogene Approved 14q32.31 14q32.31 2009-03-01 2014-11-19 283603 NG_002527 19123937 HGNC:19807 +HGNC:31031 RPL26P5 ribosomal protein L26 pseudogene 5 pseudogene pseudogene Approved 15q26.2 15q26.2 HsT41398 2005-12-22 2009-01-23 654386 NG_009883 HGNC:31031 +HGNC:34023 RPL26P6 ribosomal protein L26 pseudogene 6 pseudogene pseudogene Approved 10q22.2 10q22.2 2009-03-01 2016-08-16 100131526 ENSG00000229659 OTTHUMG00000018465 NG_009730 19123937 PGOHUM00000289902 HGNC:34023 +HGNC:37030 RPL26P7 ribosomal protein L26 pseudogene 7 pseudogene pseudogene Approved 1p36.2 01p36.2 2009-03-06 2009-03-11 100270883 NG_010184 19123937 HGNC:37030 +HGNC:36192 RPL26P8 ribosomal protein L26 pseudogene 8 pseudogene pseudogene Approved 1p36.11 01p36.11 2009-03-06 2009-03-11 100270884 NG_010189 19123937 HGNC:36192 +HGNC:36180 RPL26P9 ribosomal protein L26 pseudogene 9 pseudogene pseudogene Approved 1p21.3 01p21.3 2009-03-06 2016-10-05 100270885 ENSG00000226128 OTTHUMG00000039677 NG_010196 19123937 PGOHUM00000263042 HGNC:36180 +HGNC:36323 RPL26P10 ribosomal protein L26 pseudogene 10 pseudogene pseudogene Approved 1p13.1 01p13.1 2009-03-06 2009-03-11 100270886 NG_010202 19123937 HGNC:36323 +HGNC:35768 RPL26P11 ribosomal protein L26 pseudogene 11 pseudogene pseudogene Approved 1q25.1 01q25.1 2009-03-06 2009-03-11 730070 NG_011107 19123937 HGNC:35768 +HGNC:36025 RPL26P12 ribosomal protein L26 pseudogene 12 pseudogene pseudogene Approved 1q24.1 01q24.1 2009-03-06 2009-03-11 391126 NG_011110 19123937 HGNC:36025 +HGNC:36639 RPL26P13 ribosomal protein L26 pseudogene 13 pseudogene pseudogene Approved 2p16.1 02p16.1 2009-03-06 2019-10-11 130865 ENSG00000213495 NG_010263 19123937 HGNC:36639 +HGNC:36184 RPL26P14 ribosomal protein L26 pseudogene 14 pseudogene pseudogene Approved 2q22.3 02q22.3 2009-03-06 2009-03-11 100133235 NG_010597 19123937 HGNC:36184 +HGNC:35512 RPL26P15 ribosomal protein L26 pseudogene 15 pseudogene pseudogene Approved 2p21 02p21 2009-03-06 2019-10-16 100270965 ENSG00000233829 NG_010605 19123937 HGNC:35512 +HGNC:36098 RPL26P16 ribosomal protein L26 pseudogene 16 pseudogene pseudogene Approved 4q32.3 04q32.3 2009-03-06 2009-03-11 646966 NG_010289 19123937 HGNC:36098 +HGNC:35662 RPL26P17 ribosomal protein L26 pseudogene 17 pseudogene pseudogene Approved 4q21.1 04q21.1 2009-03-06 2009-03-11 100128318 NG_010328 19123937 HGNC:35662 +HGNC:36579 RPL26P18 ribosomal protein L26 pseudogene 18 pseudogene pseudogene Approved 5q33.3 05q33.3 2009-03-06 2009-03-11 100270968 NG_010618 19123937 HGNC:36579 +HGNC:36393 RPL26P19 ribosomal protein L26 pseudogene 19 pseudogene pseudogene Approved 5q11.2 05q11.2 2009-03-06 2017-10-30 441073 ENSG00000226221 OTTHUMG00000059487 NG_008064 19123937 PGOHUM00000300590 HGNC:36393 +HGNC:35933 RPL26P20 ribosomal protein L26 pseudogene 20 pseudogene pseudogene Approved 6q14.1 06q14.1 2009-03-06 2017-10-30 100271191 ENSG00000219722 OTTHUMG00000015057 NG_010455 19123937 PGOHUM00000301856 HGNC:35933 +HGNC:35497 RPL26P21 ribosomal protein L26 pseudogene 21 pseudogene pseudogene Approved 7p21.2 07p21.2 2009-03-06 2009-03-11 646161 NG_010072 19123937 HGNC:35497 +HGNC:36244 RPL26P22 ribosomal protein L26 pseudogene 22 pseudogene pseudogene Approved 7q35 07q35 2009-03-06 2009-03-11 643101 NG_011354 19123937 HGNC:36244 +HGNC:36634 RPL26P23 ribosomal protein L26 pseudogene 23 pseudogene pseudogene Approved 7q36.3 07q36.3 2009-03-06 2009-03-11 100129517 NG_011231 19123937 HGNC:36634 +HGNC:35774 RPL26P24 ribosomal protein L26 pseudogene 24 pseudogene pseudogene Approved 7q35 07q35 2009-03-06 2009-03-11 728311 NG_011390 19123937 HGNC:35774 +HGNC:36383 RPL26P25 ribosomal protein L26 pseudogene 25 pseudogene pseudogene Approved 8p12 08p12 2009-03-06 2009-03-11 100270966 NG_010610 19123937 HGNC:36383 +HGNC:35693 RPL26P26 ribosomal protein L26 pseudogene 26 pseudogene pseudogene Approved 8q12.1 08q12.1 2009-03-06 2016-10-25 100270967 ENSG00000242595 OTTHUMG00000158617 NG_010615 19123937 PGOHUM00000303216 HGNC:35693 +HGNC:36735 RPL26P27 ribosomal protein L26 pseudogene 27 pseudogene pseudogene Approved 10q21.3 10q21.3 2009-03-06 2016-08-17 100271471 ENSG00000226493 OTTHUMG00000018355 NG_010572 19123937 PGOHUM00000290192 HGNC:36735 +HGNC:35776 RPL26P28 ribosomal protein L26 pseudogene 28 pseudogene pseudogene Approved 10p15.1 10p15.1 2009-03-06 2016-08-16 100130983 ENSG00000223987 OTTHUMG00000017593 NG_010872 19123937 PGOHUM00000289731 HGNC:35776 +HGNC:36135 RPL26P29 ribosomal protein L26 pseudogene 29 pseudogene pseudogene Approved 10q21.3 10q21.3 2009-03-06 2016-08-17 100131788 ENSG00000234806 OTTHUMG00000018351 NG_008066 19123937 PGOHUM00000290191 HGNC:36135 +HGNC:36733 RPL26P30 ribosomal protein L26 pseudogene 30 pseudogene pseudogene Approved 11p15.5 11p15.5 2009-03-06 2013-10-22 653147 ENSG00000236264 OTTHUMG00000009761 NG_010478 19123937 HGNC:36733 +HGNC:36907 RPL26P31 ribosomal protein L26 pseudogene 31 pseudogene pseudogene Approved 11q21 11q21 2009-03-06 2017-10-30 100271469 ENSG00000242807 OTTHUMG00000158440 NG_010564 19123937 PGOHUM00000290651 HGNC:36907 +HGNC:36448 RPL26P32 ribosomal protein L26 pseudogene 32 pseudogene pseudogene Approved 12q21.31 12q21.31 2009-03-06 2009-03-11 400055 NG_006965 19123937 HGNC:36448 +HGNC:36755 RPL26P33 ribosomal protein L26 pseudogene 33 pseudogene pseudogene Approved 12q13.13 12q13.13 2009-03-06 2009-03-11 100132547 NG_011012 19123937 HGNC:36755 +HGNC:36249 RPL26P34 ribosomal protein L26 pseudogene 34 pseudogene pseudogene Approved 13q12.12 13q12.12 2009-03-06 2011-01-14 100271470 ENSG00000225404 OTTHUMG00000016587 NG_010568 19123937 PGOHUM00000248333 HGNC:36249 +HGNC:36278 RPL26P35 ribosomal protein L26 pseudogene 35 pseudogene pseudogene Approved 18q23 18q23 2009-03-06 2017-10-30 100128115 ENSG00000244229 OTTHUMG00000158266 NG_010596 19123937 PGOHUM00000294694 HGNC:36278 +HGNC:36685 RPL26P36 ribosomal protein L26 pseudogene 36 pseudogene pseudogene Approved Xq21.31 Xq21.31 2009-03-06 2020-05-22 392501 ENSG00000225912 NG_010282 19123937 HGNC:36685 +HGNC:36004 RPL26P37 ribosomal protein L26 pseudogene 37 pseudogene pseudogene Approved Yp11.2 Yp11.2 2009-03-06 2014-11-19 441533 ENSG00000235175 OTTHUMG00000035194 NG_002815 19123937 PGOHUM00000233674 HGNC:36004 +HGNC:10328 RPL27 ribosomal protein L27 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 L27 60S ribosomal protein L27 L ribosomal proteins 729 1994-05-16 2021-04-13 6155 ENSG00000131469 OTTHUMG00000180660 uc060fqn.1 NM_000988 CCDS11449 P61353 1302024 MGI:98036 RGD:621192 LRG_1156|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1156.xml 607526 470998 HGNC:10328 "ENST00000253788.12|NM_000988.5" HGNC:10328 +HGNC:10329 RPL27A ribosomal protein L27a protein-coding gene gene with protein product Approved 11p15.4 11p15.4 L27A "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1997-07-07 2020-04-02 6157 ENSG00000166441 OTTHUMG00000165834 uc001mgs.5 U14968 NM_000990 CCDS7790 P46776 "7772601|9582194" MGI:1347076 RGD:1309771 603637 HGNC:10329 "ENST00000314138.11|NM_000990.5" +HGNC:16250 RPL27AP ribosomal protein L27a pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 dJ1028D15.2 2001-07-17 2017-10-30 128481 ENSG00000215467 OTTHUMG00000032508 NG_000965 PGOHUM00000297125 HGNC:16250 +HGNC:36238 RPL27AP2 ribosomal protein L27a pseudogene 2 pseudogene pseudogene Approved 1q23.2 01q23.2 2009-03-06 2009-03-11 391124 NG_006951 19123937 HGNC:36238 +HGNC:35553 RPL27AP3 ribosomal protein L27a pseudogene 3 pseudogene pseudogene Approved 2q32.1 02q32.1 2009-03-06 2019-10-16 100271298 ENSG00000236667 NG_011002 19123937 HGNC:35553 +HGNC:36262 RPL27AP4 ribosomal protein L27a pseudogene 4 pseudogene pseudogene Approved 2q13 02q13 2009-03-06 2019-12-20 100271299 ENSG00000233939 NG_011006 19123937 HGNC:36262 +HGNC:36420 RPL27AP5 ribosomal protein L27a pseudogene 5 pseudogene pseudogene Approved 5q13.3 05q13.3 2009-03-06 2013-09-23 100271300 ENSG00000182383 OTTHUMG00000157749 NG_011014 19123937 PGOHUM00000235276 HGNC:36420 +HGNC:35977 RPL27AP6 ribosomal protein L27a pseudogene 6 pseudogene pseudogene Approved 6q25.2 06q25.2 2009-03-06 2009-03-11 389435 NG_010315 19123937 HGNC:35977 +HGNC:36064 RPL27AP7 ribosomal protein L27a pseudogene 7 pseudogene pseudogene Approved 6p12 06p12 2009-03-06 2009-03-11 100271301 NG_011018 19123937 HGNC:36064 +HGNC:36544 RPL27AP8 ribosomal protein L27a pseudogene 8 pseudogene pseudogene Approved 13q14.2 13q14.2 2009-03-06 2011-01-14 100271605 ENSG00000229423 OTTHUMG00000016884 NG_011272 19123937 PGOHUM00000248393 HGNC:36544 +HGNC:19668 RPL27P1 ribosomal protein L27 pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 2009-03-01 2014-11-18 326299 NG_002551 19123937 HGNC:19668 +HGNC:36948 RPL27P2 ribosomal protein L27 pseudogene 2 pseudogene pseudogene Approved 1q23.2 01q23.2 2009-03-06 2009-03-11 646446 NG_010249 19123937 HGNC:36948 +HGNC:35503 RPL27P4 ribosomal protein L27 pseudogene 4 pseudogene pseudogene Approved 1p35.3 01p35.3 2009-03-06 2009-03-11 646624 NG_009593 19123937 HGNC:35503 +HGNC:36120 RPL27P5 ribosomal protein L27 pseudogene 5 pseudogene pseudogene Approved 2p15 02p15 2009-03-06 2020-01-08 100270969 ENSG00000232403 NG_010624 19123937 HGNC:36120 +HGNC:36330 RPL27P6 ribosomal protein L27 pseudogene 6 pseudogene pseudogene Approved 2p15 02p15 2009-03-06 2020-01-08 647112 ENSG00000234488 NG_011037 19123937 HGNC:36330 +HGNC:36107 RPL27P7 ribosomal protein L27 pseudogene 7 pseudogene pseudogene Approved 2q14.2 02q14.2 2009-03-06 2019-11-29 100129234 ENSG00000233741 NG_011089 19123937 HGNC:36107 +HGNC:36012 RPL27P8 ribosomal protein L27 pseudogene 8 pseudogene pseudogene Approved 2q33.3 02q33.3 2009-03-06 2019-10-17 729332 ENSG00000237041 NG_011266 19123937 HGNC:36012 +HGNC:36874 RPL27P9 ribosomal protein L27 pseudogene 9 pseudogene pseudogene Approved 3p14.3 03p14.3 2009-03-06 2009-03-11 100270970 NG_010630 19123937 HGNC:36874 +HGNC:35494 RPL27P10 ribosomal protein L27 pseudogene 10 pseudogene pseudogene Approved 5p13.3 05p13.3 2009-03-06 2009-03-11 202122 NG_010719 19123937 HGNC:35494 +HGNC:36533 RPL27P11 ribosomal protein L27 pseudogene 11 pseudogene pseudogene Approved 7q32.3 07q32.3 2009-03-06 2009-03-11 442723 NG_010513 19123937 HGNC:36533 +HGNC:36736 RPL27P12 ribosomal protein L27 pseudogene 12 pseudogene pseudogene Approved 12q24.31 12q24.31 2009-03-06 2017-10-30 100271302 ENSG00000239215 OTTHUMG00000157804 NG_011023 19123937 PGOHUM00000291485 HGNC:36736 +HGNC:10330 RPL28 ribosomal protein L28 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ43307|L28" 60S ribosomal protein L28 "L ribosomal proteins|MicroRNA protein coding host genes" "729|1691" 1997-07-07 2019-08-21 6158 ENSG00000108107 OTTHUMG00000171991 uc002qkv.4 U14969 NM_000991 "CCDS46192|CCDS46189|CCDS46190|CCDS12924|CCDS46191|CCDS86809" P46779 "7772601|9582194" MGI:101839 RGD:621193 603638 HGNC:10330 "ENST00000344063.7|NM_000991.5" +HGNC:31359 RPL28P1 ribosomal protein L28 pseudogene 1 pseudogene pseudogene Approved 3q26.2 03q26.2 bcm2489 2009-03-01 2014-11-19 402149 NG_009516 19123937 HGNC:31359 +HGNC:36234 RPL28P2 ribosomal protein L28 pseudogene 2 pseudogene pseudogene Approved 2q37.1 02q37.1 2009-03-06 2020-01-08 100270971 ENSG00000237641 NG_010634 19123937 HGNC:36234 +HGNC:35973 RPL28P3 ribosomal protein L28 pseudogene 3 pseudogene pseudogene Approved 5q23.2 05q23.2 2009-03-06 2009-03-11 391828 NG_010782 19123937 HGNC:35973 +HGNC:36618 RPL28P4 ribosomal protein L28 pseudogene 4 pseudogene pseudogene Approved 15q22.1 15q22.1 2009-03-06 2009-03-11 441726 NG_010654 19123937 HGNC:36618 +HGNC:35766 RPL28P5 ribosomal protein L28 pseudogene 5 pseudogene pseudogene Approved 19p13.2 19p13.2 2009-03-06 2009-03-11 729279 NG_010989 19123937 HGNC:35766 +HGNC:10331 RPL29 ribosomal protein L29 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "HIP|HUMRPL29|L29" "60S ribosomal protein L29|heparin/heparan sulfate-interacting protein|HP/HS-interacting protein|heparin/heparan sulfate-binding protein|cell surface heparin-binding protein HIP" RPL29P10 ribosomal protein L29 pseudogene 10 L ribosomal proteins 729 1997-02-03 2016-10-05 6159 ENSG00000162244 OTTHUMG00000155262 uc003dcs.4 U10248 NM_000992 CCDS2845 P47914 8597591 MGI:99687 RGD:62069 601832 HGNC:10331 "ENST00000294189.11|NM_000992.3" +HGNC:21593 RPL29P1 ribosomal protein L29 pseudogene 1 pseudogene pseudogene Approved 6p24.3 06p24.3 dJ336K20B.2 2009-03-01 2014-11-18 134756 NG_003155 19123937 HGNC:21593 +HGNC:17334 RPL29P2 ribosomal protein L29 pseudogene 2 pseudogene pseudogene Approved 17p13.1 17p13.1 2009-03-01 2018-02-07 118432 ENSG00000240480 OTTHUMG00000157692 AF085886 NR_002778 19123937 PGOHUM00000294265 HGNC:17334 +HGNC:23565 RPL29P3 ribosomal protein L29 pseudogene 3 pseudogene pseudogene Approved 14q13.3 14q13.3 2009-03-01 2017-10-30 729042 ENSG00000243730 OTTHUMG00000157774 AL079303 NG_009496 19123937 PGOHUM00000292327 HGNC:23565 +HGNC:21482 RPL29P4 ribosomal protein L29 pseudogene 4 pseudogene pseudogene Approved 6q22.2 06q22.2 bA632C17A.1 RPL29P3 2009-03-01 2014-11-18 387101 NG_006976 19123937 HGNC:21482 +HGNC:36786 RPL29P5 ribosomal protein L29 pseudogene 5 pseudogene pseudogene Approved 1p31.1 01p31.1 2009-03-06 2009-03-11 646417 NG_010073 19123937 HGNC:36786 +HGNC:36627 RPL29P6 ribosomal protein L29 pseudogene 6 pseudogene pseudogene Approved 1p36.12 01p36.12 2009-03-06 2009-03-11 391019 NG_010556 19123937 HGNC:36627 +HGNC:36859 RPL29P7 ribosomal protein L29 pseudogene 7 pseudogene pseudogene Approved 1q24.2 01q24.2 2009-03-06 2013-06-07 100270972 ENSG00000213063 OTTHUMG00000034589 NG_010639 19123937 PGOHUM00000245078 HGNC:36859 +HGNC:37026 RPL29P8 ribosomal protein L29 pseudogene 8 pseudogene pseudogene Approved 2q31.1 02q31.1 2009-03-06 2009-03-11 100131991 NG_010798 19123937 HGNC:37026 +HGNC:35729 RPL29P9 ribosomal protein L29 pseudogene 9 pseudogene pseudogene Approved 3q27.3 03q27.3 2009-03-06 2009-03-11 647285 NG_010609 19123937 HGNC:35729 +HGNC:36905 RPL29P11 ribosomal protein L29 pseudogene 11 pseudogene pseudogene Approved 3p22.2 03p22.2 2009-03-06 2012-07-18 100131713 ENSG00000224858 OTTHUMG00000155865 NG_010671 19123937 PGOHUM00000237586 HGNC:36905 +HGNC:36608 RPL29P12 ribosomal protein L29 pseudogene 12 pseudogene pseudogene Approved 5p12 05p12 2009-03-06 2013-07-30 283412 ENSG00000224993 OTTHUMG00000157679 NG_010090 19123937 PGOHUM00000235216 HGNC:36608 +HGNC:36461 RPL29P13 ribosomal protein L29 pseudogene 13 pseudogene pseudogene Approved 5p15.2 05p15.2 2009-03-06 2009-03-11 391738 NG_010310 19123937 HGNC:36461 +HGNC:36687 RPL29P14 ribosomal protein L29 pseudogene 14 pseudogene pseudogene Approved 5q32 05q32 2009-03-06 2012-01-23 100270974 ENSG00000241112 OTTHUMG00000157900 NG_010651 19123937 PGOHUM00000235420 HGNC:36687 +HGNC:36159 RPL29P15 ribosomal protein L29 pseudogene 15 pseudogene pseudogene Approved 5q14.1 05q14.1 2009-03-06 2009-03-11 728820 NG_011265 19123937 HGNC:36159 +HGNC:36898 RPL29P16 ribosomal protein L29 pseudogene 16 pseudogene pseudogene Approved 6p21.1 06p21.1 2009-03-06 2009-03-11 100131206 NG_010701 19123937 HGNC:36898 +HGNC:36910 RPL29P17 ribosomal protein L29 pseudogene 17 pseudogene pseudogene Approved 6p22.3 06p22.3 2009-03-06 2009-03-11 645224 NG_011367 19123937 HGNC:36910 +HGNC:36327 RPL29P18 ribosomal protein L29 pseudogene 18 pseudogene pseudogene Approved 8q22.3 08q22.3 2009-03-06 2009-03-11 644103 NG_010002 19123937 HGNC:36327 +HGNC:35508 RPL29P19 ribosomal protein L29 pseudogene 19 pseudogene pseudogene Approved 8q11.21 08q11.21 2009-03-06 2017-10-30 389655 ENSG00000224594 OTTHUMG00000155292 NG_010114 19123937 PGOHUM00000303537 HGNC:35508 +HGNC:36682 RPL29P20 ribosomal protein L29 pseudogene 20 pseudogene pseudogene Approved 9q32 09q32 2009-03-06 2009-03-11 100129332 NG_010275 19123937 HGNC:36682 +HGNC:36322 RPL29P21 ribosomal protein L29 pseudogene 21 pseudogene pseudogene Approved 11p15.1 11p15.1 2009-03-06 2009-03-11 732199 NG_010211 19123937 HGNC:36322 +HGNC:35675 RPL29P22 ribosomal protein L29 pseudogene 22 pseudogene pseudogene Approved 11q12.3 11q12.3 2009-03-06 2015-08-24 100271472 ENSG00000239924 OTTHUMG00000158399 NG_010578 19123937 PGOHUM00000290551 HGNC:35675 +HGNC:35946 RPL29P23 ribosomal protein L29 pseudogene 23 pseudogene pseudogene Approved 11p13 11p13 2009-03-06 2015-08-24 646077 ENSG00000241950 OTTHUMG00000158340 NG_011381 19123937 PGOHUM00000290431 HGNC:35946 +HGNC:35616 RPL29P24 ribosomal protein L29 pseudogene 24 pseudogene pseudogene Approved 12q24.31 12q24.31 2009-03-06 2017-10-30 100129591 ENSG00000241030 OTTHUMG00000157799 NG_010294 19123937 PGOHUM00000291477 HGNC:35616 +HGNC:37039 RPL29P25 ribosomal protein L29 pseudogene 25 pseudogene pseudogene Approved 12q24.11 12q24.11 2009-03-06 2017-03-28 642493 ENSG00000241286 OTTHUMG00000157733 NG_011380 19123937 PGOHUM00000291464 HGNC:37039 +HGNC:35717 RPL29P26 ribosomal protein L29 pseudogene 26 pseudogene pseudogene Approved 12q22 12q22 2009-03-06 2009-03-11 643531 NG_011051 19123937 HGNC:35717 +HGNC:35551 RPL29P27 ribosomal protein L29 pseudogene 27 pseudogene pseudogene Approved 12p11.22 12p11.22 2009-03-06 2009-03-11 100130792 NG_011196 19123937 HGNC:35551 +HGNC:36842 RPL29P28 ribosomal protein L29 pseudogene 28 pseudogene pseudogene Approved 13q13.3 13q13.3 2009-03-06 2011-01-14 646884 ENSG00000232378 OTTHUMG00000016746 NG_011177 19123937 PGOHUM00000248364 HGNC:36842 +HGNC:36577 RPL29P29 ribosomal protein L29 pseudogene 29 pseudogene pseudogene Approved 13q31.2 13q31.2 2009-03-06 2011-01-14 100271474 ENSG00000225289 OTTHUMG00000017170 NG_010587 19123937 PGOHUM00000248455 HGNC:36577 +HGNC:36601 RPL29P30 ribosomal protein L29 pseudogene 30 pseudogene pseudogene Approved 15q23 15q23 2009-03-06 2017-10-30 729611 ENSG00000235420 OTTHUMG00000157984 NG_010026 19123937 PGOHUM00000292998 HGNC:36601 +HGNC:35944 RPL29P31 ribosomal protein L29 pseudogene 31 pseudogene pseudogene Approved 17q21.31 17q21.31 "p17|PERMIT" protein that mediates ER-mitochondria trafficking 2009-03-06 2022-03-08 284064 NG_010842 "19123937|31535025" HGNC:35944 +HGNC:35834 RPL29P32 ribosomal protein L29 pseudogene 32 pseudogene pseudogene Approved 18q21.2 18q21.2 2009-03-06 2017-10-30 390856 ENSG00000242945 OTTHUMG00000158250 NG_009579 19123937 PGOHUM00000294667 HGNC:35834 +HGNC:36923 RPL29P33 ribosomal protein L29 pseudogene 33 pseudogene pseudogene Approved 19q13.11 19q13.11 2009-03-06 2013-01-23 401911 ENSG00000257074 OTTHUMG00000158175 NG_011283 19123937 PGOHUM00000234284 HGNC:36923 +HGNC:10333 RPL30 ribosomal protein L30 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 L30 "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1991-11-29 2016-10-05 6156 ENSG00000156482 OTTHUMG00000164796 uc003yif.4 NM_000989 CCDS34928 P62888 1577483 MGI:98037 RGD:621201 180467 HGNC:10333 "ENST00000287038.8|NM_000989.4" +HGNC:56064 RPL30-AS1 RPL30 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q22.2 08q22.2 KB-1208A12.3 Antisense RNAs 1987 2021-12-10 2021-12-10 123706519 ENSG00000245970 +HGNC:36642 RPL30P1 ribosomal protein L30 pseudogene 1 pseudogene pseudogene Approved 1q25.1 01q25.1 2009-03-06 2013-05-09 100270975 ENSG00000225713 OTTHUMG00000034821 NG_010656 19123937 PGOHUM00000244341 HGNC:36642 +HGNC:35642 RPL30P2 ribosomal protein L30 pseudogene 2 pseudogene pseudogene Approved 2q23.3 02q23.3 2009-03-06 2013-05-09 100270976 ENSG00000234272 OTTHUMG00000155110 NG_010662 19123937 PGOHUM00000240985 HGNC:35642 +HGNC:36380 RPL30P3 ribosomal protein L30 pseudogene 3 pseudogene pseudogene Approved 2p25.1 02p25.1 2009-03-06 2013-05-09 100270977 ENSG00000223640 OTTHUMG00000157021 NG_010666 19123937 PGOHUM00000239974 HGNC:36380 +HGNC:35871 RPL30P4 ribosomal protein L30 pseudogene 4 pseudogene pseudogene Approved 3p22.3 03p22.3 2009-03-06 2013-05-09 100131230 ENSG00000237676 OTTHUMG00000155900 NG_009720 19123937 PGOHUM00000237575 HGNC:35871 +HGNC:36302 RPL30P5 ribosomal protein L30 pseudogene 5 pseudogene pseudogene Approved 4q21.23 04q21.23 2009-03-06 2013-01-23 100270978 ENSG00000239525 OTTHUMG00000157514 NG_010673 19123937 PGOHUM00000245988 HGNC:36302 +HGNC:37015 RPL30P6 ribosomal protein L30 pseudogene 6 pseudogene pseudogene Approved 4q22.3 04q22.3 2009-03-06 2013-05-09 100270980 ENSG00000242936 OTTHUMG00000157526 NG_010684 19123937 PGOHUM00000245626 HGNC:37015 +HGNC:36402 RPL30P7 ribosomal protein L30 pseudogene 7 pseudogene pseudogene Approved 5p15.2 05p15.2 2009-03-06 2013-05-09 100270979 ENSG00000244361 OTTHUMG00000157613 NG_010677 19123937 PGOHUM00000235504 HGNC:36402 +HGNC:36058 RPL30P8 ribosomal protein L30 pseudogene 8 pseudogene pseudogene Approved 6q22.1 06q22.1 2009-03-06 2009-03-11 100132053 NG_011102 19123937 HGNC:36058 +HGNC:35763 RPL30P9 ribosomal protein L30 pseudogene 9 pseudogene pseudogene Approved 8p21.3 08p21.3 2009-03-06 2013-05-09 100270981 ENSG00000242709 OTTHUMG00000158581 NG_010689 19123937 PGOHUM00000249264 HGNC:35763 +HGNC:36822 RPL30P10 ribosomal protein L30 pseudogene 10 pseudogene pseudogene Approved 8q12.1 08q12.1 2009-03-06 2013-05-09 100270982 ENSG00000243050 OTTHUMG00000158615 NG_010695 19123937 PGOHUM00000249682 HGNC:36822 +HGNC:36260 RPL30P11 ribosomal protein L30 pseudogene 11 pseudogene pseudogene Approved 12p13.1 12p13.1 2009-03-06 2013-05-09 100271303 ENSG00000244573 OTTHUMG00000157491 NG_011030 19123937 PGOHUM00000239357 HGNC:36260 +HGNC:36909 RPL30P12 ribosomal protein L30 pseudogene 12 pseudogene pseudogene Approved 12q23.3 12q23.3 2009-03-06 2013-05-09 100271304 ENSG00000240631 OTTHUMG00000157716 NG_011034 19123937 PGOHUM00000256711 HGNC:36909 +HGNC:36280 RPL30P13 ribosomal protein L30 pseudogene 13 pseudogene pseudogene Approved 12q12 12q12 2009-03-06 2013-05-09 100271305 ENSG00000229014 OTTHUMG00000059744 NG_011039 19123937 PGOHUM00000239417 HGNC:36280 +HGNC:36257 RPL30P14 ribosomal protein L30 pseudogene 14 pseudogene pseudogene Approved 18q21.33 18q21.33 2009-03-06 2013-05-09 100129867 ENSG00000243256 OTTHUMG00000158258 NG_010405 19123937 PGOHUM00000234945 HGNC:36257 +HGNC:36542 RPL30P15 ribosomal protein L30 pseudogene 15 pseudogene pseudogene Approved Xp22.2 Xp22.2 2009-03-06 2011-09-20 100271192 ENSG00000233357 OTTHUMG00000021153 NG_010459 19123937 PGOHUM00000241647 HGNC:36542 +HGNC:48340 RPL30P16 ribosomal protein L30 pseudogene 16 pseudogene pseudogene Approved 8q23.3 08q23.3 2013-05-09 2013-05-09 100289099 ENSG00000230169 OTTHUMG00000157026 NG_030257 PGOHUM00000249782 HGNC:48340 +HGNC:10334 RPL31 ribosomal protein L31 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 L31 L ribosomal proteins 729 1990-06-11 2014-11-18 6160 ENSG00000071082 OTTHUMG00000130687 uc002taq.5 X15940 NM_001098577 "CCDS2049|CCDS46374|CCDS46373" P62899 "2780320|11875025" MGI:2149632 RGD:621202 617415 471000 HGNC:10334 "ENST00000264258.8|NM_000993.5" +HGNC:10335 RPL31P1 ribosomal protein L31 pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 RPL31P ribosomal protein L31 pseudogene 2009-03-01 2001-12-14 2001-12-07 2014-11-19 54027 ENSG00000214326 OTTHUMG00000086873 NG_000908 19123937 PGOHUM00000239181 HGNC:10335 +HGNC:16575 RPL31P2 ribosomal protein L31 pseudogene 2 pseudogene pseudogene Approved 20q11.22 20q11.22 dJ553F4.5 2009-03-01 2014-11-19 140753 ENSG00000230837 OTTHUMG00000032276 AL050349 NG_000996 19123937 HGNC:16575 +HGNC:16549 RPL31P3 ribosomal protein L31 pseudogene 3 pseudogene pseudogene Approved 20q11.21 20q11.21 dJ1018D12.4 2009-03-01 2014-11-18 140718 ENSG00000237929 OTTHUMG00000032160 AL031650 NG_000989 19123937 PGOHUM00000247505 HGNC:16549 +HGNC:23546 RPL31P4 ribosomal protein L31 pseudogene 4 pseudogene pseudogene Approved 14q23.1 14q23.1 2009-03-01 2014-11-19 729646 NG_009376 19123937 HGNC:23546 +HGNC:23547 RPL31P5 ribosomal protein L31 pseudogene 5 pseudogene pseudogene Approved 14q23.2 14q23.2 2009-03-01 2014-11-19 100129928 AL136038 NG_009395 19123937 HGNC:23547 +HGNC:31032 RPL31P6 ribosomal protein L31 pseudogene 6 pseudogene pseudogene Approved 15q26.1 15q26.1 HsT19508 2009-03-01 2014-11-19 654387 AC091544 NG_009390 19123937 HGNC:31032 +HGNC:31325 RPL31P7 ribosomal protein L31 pseudogene 7 pseudogene pseudogene Approved 17q25.3 17q25.3 2009-03-01 2017-10-30 654391 ENSG00000232083 OTTHUMG00000132151 AC133012 NG_009391 19123937 PGOHUM00000294228 HGNC:31325 +HGNC:31324 RPL31P8 ribosomal protein L31 pseudogene 8 pseudogene pseudogene Approved 5q12.1 05q12.1 2009-03-01 2014-11-19 253013 NG_005654 19123937 HGNC:31324 +HGNC:31893 RPL31P9 ribosomal protein L31 pseudogene 9 pseudogene pseudogene Approved 18q22.1 18q22.1 ribosomal protein L31 pseudogene 8 2005-10-06 2006-11-16 2017-10-30 619464 ENSG00000264054 OTTHUMG00000178515 NG_009519 HGNC:31893 +HGNC:33180 RPL31P10 ribosomal protein L31 pseudogene 10 pseudogene pseudogene Approved 12p13.31 12p13.31 2009-03-01 2014-11-19 390283 NG_009396 19123937 HGNC:33180 +HGNC:35849 RPL31P11 ribosomal protein L31 pseudogene 11 pseudogene pseudogene Approved 1q23.3 01q23.3 2009-03-06 2014-11-19 641311 ENSG00000213075 OTTHUMG00000034536 NR_002595 19123937 HGNC:35849 +HGNC:35546 RPL31P12 ribosomal protein L31 pseudogene 12 pseudogene pseudogene Approved 1p31.1 01p31.1 2009-03-06 2013-09-23 100270887 ENSG00000227207 OTTHUMG00000009455 NG_010207 19123937 PGOHUM00000244756 HGNC:35546 +HGNC:35598 RPL31P13 ribosomal protein L31 pseudogene 13 pseudogene pseudogene Approved 1q32.3 01q32.3 2009-03-06 2013-09-23 100270983 ENSG00000228646 OTTHUMG00000037067 NG_010703 19123937 PGOHUM00000251096 HGNC:35598 +HGNC:35477 RPL31P14 ribosomal protein L31 pseudogene 14 pseudogene pseudogene Approved 2q35 02q35 2009-03-06 2019-11-28 100129310 ENSG00000237930 NG_010159 19123937 HGNC:35477 +HGNC:36339 RPL31P15 ribosomal protein L31 pseudogene 15 pseudogene pseudogene Approved 2q32.1 02q32.1 2009-03-06 2013-09-19 100270984 ENSG00000232430 OTTHUMG00000154210 NG_010707 19123937 PGOHUM00000241037 HGNC:36339 +HGNC:36001 RPL31P16 ribosomal protein L31 pseudogene 16 pseudogene pseudogene Approved 2p22.2 02p22.2 2009-03-06 2019-11-28 100129418 ENSG00000233159 NG_010720 19123937 HGNC:36001 +HGNC:36995 RPL31P17 ribosomal protein L31 pseudogene 17 pseudogene pseudogene Approved 2q36.1 02q36.1 2009-03-06 2019-10-16 653773 ENSG00000235225 NG_011063 19123937 HGNC:36995 +HGNC:35833 RPL31P18 ribosomal protein L31 pseudogene 18 pseudogene pseudogene Approved 3p22.3 03p22.3 2009-03-06 2009-03-11 285260 NG_010408 19123937 HGNC:35833 +HGNC:35589 RPL31P19 ribosomal protein L31 pseudogene 19 pseudogene pseudogene Approved 3p24.3 03p24.3 2009-03-06 2009-03-11 100270985 NG_010711 19123937 HGNC:35589 +HGNC:36303 RPL31P20 ribosomal protein L31 pseudogene 20 pseudogene pseudogene Approved 3p24.2 03p24.2 2009-03-06 2011-05-19 100270986 ENSG00000229756 OTTHUMG00000155681 NG_010717 19123937 PGOHUM00000237961 HGNC:36303 +HGNC:36245 RPL31P21 ribosomal protein L31 pseudogene 21 pseudogene pseudogene Approved 3q23 03q23 2009-03-06 2009-03-11 100270988 NG_010728 19123937 HGNC:36245 +HGNC:36430 RPL31P22 ribosomal protein L31 pseudogene 22 pseudogene pseudogene Approved 3q29 03q29 2009-03-06 2009-03-11 100270989 NG_010734 19123937 HGNC:36430 +HGNC:36096 RPL31P23 ribosomal protein L31 pseudogene 23 pseudogene pseudogene Approved 3q22.3 03q22.3 2009-03-06 2009-03-11 391581 NG_009581 19123937 HGNC:36096 +HGNC:36353 RPL31P24 ribosomal protein L31 pseudogene 24 pseudogene pseudogene Approved 4q22 04q22 2009-03-06 2009-03-11 100271194 NG_010468 19123937 HGNC:36353 +HGNC:36698 RPL31P25 ribosomal protein L31 pseudogene 25 pseudogene pseudogene Approved 4p15.31 04p15.31 2009-03-06 2009-03-11 100270987 NG_010723 19123937 HGNC:36698 +HGNC:36063 RPL31P26 ribosomal protein L31 pseudogene 26 pseudogene pseudogene Approved 4q31.23 04q31.23 2009-03-06 2009-03-11 100130537 NG_011206 19123937 HGNC:36063 +HGNC:36275 RPL31P27 ribosomal protein L31 pseudogene 27 pseudogene pseudogene Approved 6q24.2 06q24.2 2009-03-06 2009-03-11 100271198 NG_010490 19123937 HGNC:36275 +HGNC:36253 RPL31P28 ribosomal protein L31 pseudogene 28 pseudogene pseudogene Approved 6p12.1 06p12.1 2009-03-06 2017-10-30 442217 ENSG00000219863 OTTHUMG00000016250 NG_010544 19123937 PGOHUM00000301814 HGNC:36253 +HGNC:36647 RPL31P29 ribosomal protein L31 pseudogene 29 pseudogene pseudogene Approved 6q25.2 06q25.2 2009-03-06 2009-03-11 100270990 NG_010740 19123937 HGNC:36647 +HGNC:35679 RPL31P30 ribosomal protein L31 pseudogene 30 pseudogene pseudogene Approved 2p15 02p15 2009-03-06 2019-12-19 729203 ENSG00000230702 NG_011371 19123937 HGNC:35679 +HGNC:35678 RPL31P31 ribosomal protein L31 pseudogene 31 pseudogene pseudogene Approved 4p15.1 04p15.1 2009-03-06 2009-03-11 727792 NG_011387 19123937 HGNC:35678 +HGNC:35719 RPL31P32 ribosomal protein L31 pseudogene 32 pseudogene pseudogene Approved 6q14.3 06q14.3 2009-03-06 2009-03-11 643851 NG_011350 19123937 HGNC:35719 +HGNC:36886 RPL31P33 ribosomal protein L31 pseudogene 33 pseudogene pseudogene Approved 6p12.1 06p12.1 2009-03-06 2017-10-30 442218 ENSG00000218049 OTTHUMG00000014877 NG_011369 19123937 PGOHUM00000301815 HGNC:36886 +HGNC:35853 RPL31P34 ribosomal protein L31 pseudogene 34 pseudogene pseudogene Approved 7p22.1 07p22.1 2009-03-06 2009-03-11 100271193 NG_010464 19123937 HGNC:35853 +HGNC:36932 RPL31P35 ribosomal protein L31 pseudogene 35 pseudogene pseudogene Approved 7p11.2 07p11.2 2009-03-06 2013-09-23 100271199 ENSG00000232612 OTTHUMG00000156068 NG_010493 19123937 PGOHUM00000233236 HGNC:36932 +HGNC:36676 RPL31P36 ribosomal protein L31 pseudogene 36 pseudogene pseudogene Approved 7q32 07q32 2009-03-06 2009-03-11 100271200 NG_010497 19123937 HGNC:36676 +HGNC:36197 RPL31P37 ribosomal protein L31 pseudogene 37 pseudogene pseudogene Approved 7q31.32 07q31.32 2009-03-06 2009-03-11 646787 NG_009411 19123937 HGNC:36197 +HGNC:36834 RPL31P38 ribosomal protein L31 pseudogene 38 pseudogene pseudogene Approved 7q11.21 07q11.21 2009-03-06 2009-03-11 442326 NG_011108 19123937 HGNC:36834 +HGNC:35995 RPL31P39 ribosomal protein L31 pseudogene 39 pseudogene pseudogene Approved 7q31.33 07q31.33 2009-03-06 2009-03-11 641790 NG_009415 19123937 HGNC:35995 +HGNC:36134 RPL31P40 ribosomal protein L31 pseudogene 40 pseudogene pseudogene Approved 8q13.2 08q13.2 2009-03-06 2017-10-30 100271196 ENSG00000253964 OTTHUMG00000164404 NG_010480 19123937 PGOHUM00000303240 HGNC:36134 +HGNC:36720 RPL31P41 ribosomal protein L31 pseudogene 41 pseudogene pseudogene Approved 8q13.1 08q13.1 2009-03-06 2013-09-23 100271201 ENSG00000239261 OTTHUMG00000158619 NG_010501 19123937 PGOHUM00000250032 HGNC:36720 +HGNC:36930 RPL31P42 ribosomal protein L31 pseudogene 42 pseudogene pseudogene Approved 9p22.2 09p22.2 2009-03-06 2009-03-11 100271197 NG_010485 19123937 HGNC:36930 +HGNC:36512 RPL31P43 ribosomal protein L31 pseudogene 43 pseudogene pseudogene Approved 9q31.2 09q31.2 2009-03-06 2009-03-11 392382 NG_010985 19123937 HGNC:36512 +HGNC:35523 RPL31P44 ribosomal protein L31 pseudogene 44 pseudogene pseudogene Approved 10q21.1 10q21.1 2009-03-06 2016-08-16 644522 ENSG00000213657 OTTHUMG00000018249 NG_010889 19123937 PGOHUM00000289867 HGNC:35523 +HGNC:36796 RPL31P45 ribosomal protein L31 pseudogene 45 pseudogene pseudogene Approved 10p12.31 10p12.31 2009-03-06 2016-08-17 729308 ENSG00000233318 OTTHUMG00000017805 NG_011137 19123937 PGOHUM00000290069 HGNC:36796 +HGNC:35559 RPL31P46 ribosomal protein L31 pseudogene 46 pseudogene pseudogene Approved 11q13.4 11q13.4 2009-03-06 2021-09-29 100271479 ENSG00000241170 NG_010617 19123937 PGOHUM00000291042 HGNC:35559 +HGNC:36124 RPL31P47 ribosomal protein L31 pseudogene 47 pseudogene pseudogene Approved 11q24.1 11q24.1 2009-03-06 2017-10-30 100271481 ENSG00000233541 OTTHUMG00000158479 NG_010626 19123937 PGOHUM00000291155 HGNC:36124 +HGNC:36129 RPL31P48 ribosomal protein L31 pseudogene 48 pseudogene pseudogene Approved 12q21.1 12q21.1 2009-03-06 2009-03-11 645654 NG_011352 19123937 HGNC:36129 +HGNC:35909 RPL31P49 ribosomal protein L31 pseudogene 49 pseudogene pseudogene Approved 12q24.11 12q24.11 2009-03-06 2017-10-30 100129882 ENSG00000241680 OTTHUMG00000157730 NG_010470 19123937 PGOHUM00000291800 HGNC:35909 +HGNC:36799 RPL31P50 ribosomal protein L31 pseudogene 50 pseudogene pseudogene Approved 12p11.21 12p11.21 2009-03-06 2014-11-19 341356 ENSG00000231788 OTTHUMG00000157525 NG_006023 19123937 HGNC:36799 +HGNC:35600 RPL31P51 ribosomal protein L31 pseudogene 51 pseudogene pseudogene Approved 12q13 12q13 2009-03-06 2009-03-11 100271475 NG_010594 19123937 HGNC:35600 +HGNC:36607 RPL31P52 ribosomal protein L31 pseudogene 52 pseudogene pseudogene Approved 12q24.31 12q24.31 2009-03-06 2016-10-05 100271476 ENSG00000219355 OTTHUMG00000047789 NG_010601 19123937 PGOHUM00000239590 HGNC:36607 +HGNC:35749 RPL31P53 ribosomal protein L31 pseudogene 53 pseudogene pseudogene Approved 13q21.1 13q21.1 2009-03-06 2010-11-24 100271477 ENSG00000225352 OTTHUMG00000157160 NG_010607 19123937 PGOHUM00000248411 HGNC:35749 +HGNC:36077 RPL31P54 ribosomal protein L31 pseudogene 54 pseudogene pseudogene Approved 13q22.3 13q22.3 2009-03-06 2011-01-14 100271483 ENSG00000229865 OTTHUMG00000017118 NG_010636 19123937 PGOHUM00000248639 HGNC:36077 +HGNC:36982 RPL31P55 ribosomal protein L31 pseudogene 55 pseudogene pseudogene Approved 15q26.2 15q26.2 2009-03-06 2009-03-11 100128250 NG_011296 19123937 HGNC:36982 +HGNC:36336 RPL31P56 ribosomal protein L31 pseudogene 56 pseudogene pseudogene Approved 16q12.2 16q12.2 2009-03-06 2017-10-30 100271478 ENSG00000240760 OTTHUMG00000158145 NG_010612 19123937 PGOHUM00000293614 HGNC:36336 +HGNC:35703 RPL31P57 ribosomal protein L31 pseudogene 57 pseudogene pseudogene Approved 17q23.3 17q23.3 2009-03-06 2017-10-30 645993 ENSG00000256358 OTTHUMG00000132313 NG_010546 19123937 PGOHUM00000294190 HGNC:35703 +HGNC:35862 RPL31P58 ribosomal protein L31 pseudogene 58 pseudogene pseudogene Approved 17q11.2 17q11.2 2009-03-06 2012-04-27 100271485 ENSG00000243053 OTTHUMG00000157764 NG_010646 19123937 PGOHUM00000250834 HGNC:35862 +HGNC:36975 RPL31P59 ribosomal protein L31 pseudogene 59 pseudogene pseudogene Approved 18p11.31 18p11.31 2009-03-06 2017-10-30 100271480 ENSG00000240364 OTTHUMG00000158159 NG_010620 19123937 PGOHUM00000294570 HGNC:36975 +HGNC:36123 RPL31P60 ribosomal protein L31 pseudogene 60 pseudogene pseudogene Approved 19q13.11 19q13.11 2009-03-06 2016-07-25 100271486 ENSG00000239988 OTTHUMG00000182178 NG_010653 19123937 PGOHUM00000295332 HGNC:36123 +HGNC:35635 RPL31P61 ribosomal protein L31 pseudogene 61 pseudogene pseudogene Approved 19q13.12 19q13.12 2009-03-06 2012-08-16 100271487 ENSG00000243297 OTTHUMG00000158179 NG_010658 19123937 PGOHUM00000234675 HGNC:35635 +HGNC:36569 RPL31P62 ribosomal protein L31 pseudogene 62 pseudogene pseudogene Approved 22q11.1 22q11.1 2009-03-06 2009-03-11 100271482 NG_010632 19123937 HGNC:36569 +HGNC:35666 RPL31P63 ribosomal protein L31 pseudogene 63 pseudogene pseudogene Approved Xq13.1 Xq13.1 2009-03-06 2011-09-20 100271392 ENSG00000236735 OTTHUMG00000021746 NG_010170 19123937 PGOHUM00000241827 HGNC:35666 +HGNC:10336 RPL32 ribosomal protein L32 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 L32 "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1997-06-09 2016-10-05 6161 ENSG00000144713 OTTHUMG00000129804 uc003bxm.4 "CA436299|CF124158|CR608027" NM_000994 CCDS2614 P62910 9284913 MGI:98038 RGD:621203 HGNC:10336 "ENST00000429711.7|NM_000994.4" +HGNC:10339 RPL32P1 ribosomal protein L32 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 RPL32-L RPL32P ribosomal protein L32 pseudogene 2009-03-01 2001-12-14 2001-12-10 2017-10-30 6163 ENSG00000224796 OTTHUMG00000031191 X02228 NG_000869 "3866218|19123937" PGOHUM00000301761 HGNC:10339 +HGNC:31033 RPL32P2 ribosomal protein L32 pseudogene 2 pseudogene pseudogene Approved 15q14 15q14 HsT20607 2009-03-01 2020-06-11 654388 ENSG00000243094 AC079203 NG_009533 19123937 PGOHUM00000292901 HGNC:31033 +HGNC:27024 RPL32P3 ribosomal protein L32 pseudogene 3 pseudogene pseudogene Approved 3q21.3 03q21.3 Small nucleolar RNA non-coding host genes 1839 2006-08-07 2014-03-20 132241 ENSG00000251474 OTTHUMG00000159465 "AK096589|AL117606" NR_003111 12477932 HGNC:27024 +HGNC:10337 RPL32P4 ribosomal protein L32 pseudogene 4 pseudogene pseudogene Approved 8q21.3 08q21.3 RPL32L ribosomal protein L32-like 2009-03-01 2009-01-23 2009-01-23 2020-06-11 100131339 ENSG00000243761 NG_009522 19123937 PGOHUM00000303614 HGNC:10337 +HGNC:10338 RPL32P5 ribosomal protein L32 pseudogene 5 pseudogene pseudogene Approved 22q11.1 22q11.1 RPL32L2 ribosomal protein L32-like 2 2009-03-01 2009-01-23 2009-01-23 2020-06-11 23754 ENSG00000236325 NG_002456 "10591208|19123937" PGOHUM00000297620 HGNC:10338 +HGNC:36655 RPL32P6 ribosomal protein L32 pseudogene 6 pseudogene pseudogene Approved 1p36.11 01p36.11 2009-03-06 2020-06-11 100270888 ENSG00000224064 NG_010215 19123937 PGOHUM00000296256 HGNC:36655 +HGNC:35804 RPL32P7 ribosomal protein L32 pseudogene 7 pseudogene pseudogene Approved 3q12.3 03q12.3 2009-03-06 2020-06-11 391560 ENSG00000243396 NG_010710 19123937 PGOHUM00000299108 HGNC:35804 +HGNC:36414 RPL32P8 ribosomal protein L32 pseudogene 8 pseudogene pseudogene Approved 3q25 03q25 2009-03-06 2020-06-11 100270991 ENSG00000240246 NG_010745 19123937 PGOHUM00000299222 HGNC:36414 +HGNC:35481 RPL32P9 ribosomal protein L32 pseudogene 9 pseudogene pseudogene Approved 3q25.1 03q25.1 2009-03-06 2013-09-23 100270992 ENSG00000241143 OTTHUMG00000157414 NG_010752 19123937 PGOHUM00000238230 HGNC:35481 +HGNC:35641 RPL32P10 ribosomal protein L32 pseudogene 10 pseudogene pseudogene Approved 3q26.33 03q26.33 2009-03-06 2020-06-11 391595 ENSG00000213157 NG_010893 19123937 PGOHUM00000299289 HGNC:35641 +HGNC:35723 RPL32P11 ribosomal protein L32 pseudogene 11 pseudogene pseudogene Approved 3p24.2 03p24.2 2009-03-06 2020-06-11 728572 ENSG00000213872 NG_011306 19123937 PGOHUM00000299372 HGNC:35723 +HGNC:36600 RPL32P12 ribosomal protein L32 pseudogene 12 pseudogene pseudogene Approved 4p15.33 04p15.33 2009-03-06 2020-06-11 731741 ENSG00000242209 NG_010487 19123937 PGOHUM00000299769 HGNC:36600 +HGNC:35950 RPL32P13 ribosomal protein L32 pseudogene 13 pseudogene pseudogene Approved 4q25 04q25 2009-03-06 2020-06-11 100270993 ENSG00000241002 NG_010759 19123937 PGOHUM00000300333 HGNC:35950 +HGNC:37038 RPL32P14 ribosomal protein L32 pseudogene 14 pseudogene pseudogene Approved 5p14.3 05p14.3 2009-03-06 2013-09-23 100270994 ENSG00000242654 OTTHUMG00000157630 NG_010763 19123937 PGOHUM00000235524 HGNC:37038 +HGNC:36119 RPL32P15 ribosomal protein L32 pseudogene 15 pseudogene pseudogene Approved 6p21.1 06p21.1 2009-03-06 2020-06-11 100132265 ENSG00000213461 NG_010882 19123937 PGOHUM00000301355 HGNC:36119 +HGNC:36086 RPL32P16 ribosomal protein L32 pseudogene 16 pseudogene pseudogene Approved 6q25.1 06q25.1 2009-03-06 2020-06-11 646104 ENSG00000219747 NG_006650 19123937 PGOHUM00000301992 HGNC:36086 +HGNC:36251 RPL32P17 ribosomal protein L32 pseudogene 17 pseudogene pseudogene Approved 7q36.1 07q36.1 2009-03-06 2020-06-11 402716 ENSG00000213210 NG_010146 19123937 PGOHUM00000303010 HGNC:36251 +HGNC:36301 RPL32P18 ribosomal protein L32 pseudogene 18 pseudogene pseudogene Approved 7p13 07p13 2009-03-06 2020-06-11 644907 ENSG00000146677 NG_010235 19123937 HGNC:36301 +HGNC:36743 RPL32P19 ribosomal protein L32 pseudogene 19 pseudogene pseudogene Approved 8p22 08p22 2009-03-06 2020-06-11 646433 ENSG00000226836 NG_006954 19123937 PGOHUM00000303466 HGNC:36743 +HGNC:35934 RPL32P20 ribosomal protein L32 pseudogene 20 pseudogene pseudogene Approved 8q24.22 08q24.22 2009-03-06 2020-06-11 392271 ENSG00000243537 NG_010427 19123937 PGOHUM00000303684 HGNC:35934 +HGNC:36363 RPL32P21 ribosomal protein L32 pseudogene 21 pseudogene pseudogene Approved 9p13.2 09p13.2 2009-03-06 2020-06-11 100128004 ENSG00000125385 NG_009980 19123937 PGOHUM00000304172 HGNC:36363 +HGNC:36694 RPL32P22 ribosomal protein L32 pseudogene 22 pseudogene pseudogene Approved 9q32 09q32 2009-03-06 2020-06-11 644996 ENSG00000213529 NG_010687 19123937 PGOHUM00000304443 HGNC:36694 +HGNC:36007 RPL32P23 ribosomal protein L32 pseudogene 23 pseudogene pseudogene Approved 10p15.1 10p15.1 2009-03-06 2016-08-16 644020 ENSG00000214015 OTTHUMG00000017619 NG_010936 19123937 PGOHUM00000289732 HGNC:36007 +HGNC:36722 RPL32P24 ribosomal protein L32 pseudogene 24 pseudogene pseudogene Approved 11q14.1 11q14.1 2009-03-06 2020-06-11 100271489 ENSG00000241020 NG_010668 19123937 HGNC:36722 +HGNC:35721 RPL32P25 ribosomal protein L32 pseudogene 25 pseudogene pseudogene Approved 11q21 11q21 2009-03-06 2020-06-11 100271490 ENSG00000242993 NG_010675 19123937 PGOHUM00000291112 HGNC:35721 +HGNC:36027 RPL32P26 ribosomal protein L32 pseudogene 26 pseudogene pseudogene Approved 12q14.1 12q14.1 2009-03-06 2017-10-30 100271491 ENSG00000241941 OTTHUMG00000157597 NG_010679 19123937 PGOHUM00000291702 HGNC:36027 +HGNC:36924 RPL32P27 ribosomal protein L32 pseudogene 27 pseudogene pseudogene Approved 12q13.12 12q13.12 2009-03-06 2020-06-11 100271306 ENSG00000239617 NG_011044 19123937 HGNC:36924 +HGNC:36328 RPL32P28 ribosomal protein L32 pseudogene 28 pseudogene pseudogene Approved 13q21.31 13q21.31 2009-03-06 2011-01-14 100133193 ENSG00000232105 OTTHUMG00000017018 NG_010395 19123937 PGOHUM00000248616 HGNC:36328 +HGNC:35771 RPL32P29 ribosomal protein L32 pseudogene 29 pseudogene pseudogene Approved 14q21.3 14q21.3 2009-03-06 2017-10-30 729215 ENSG00000244270 OTTHUMG00000158047 NG_010659 19123937 HGNC:35771 +HGNC:36729 RPL32P30 ribosomal protein L32 pseudogene 30 pseudogene pseudogene Approved 15q21.2 15q21.2 2009-03-06 2020-06-11 100271492 ENSG00000241130 NG_010686 19123937 PGOHUM00000293240 HGNC:36729 +HGNC:37035 RPL32P31 ribosomal protein L32 pseudogene 31 pseudogene pseudogene Approved 17q25.3 17q25.3 2009-03-06 2017-10-30 201259 ENSG00000213128 OTTHUMG00000157959 NG_010233 19123937 PGOHUM00000294555 HGNC:37035 +HGNC:36024 RPL32P32 ribosomal protein L32 pseudogene 32 pseudogene pseudogene Approved 17q23.2 17q23.2 2009-03-06 2020-06-11 100271488 ENSG00000241157 NG_010664 19123937 PGOHUM00000294171 HGNC:36024 +HGNC:36231 RPL32P33 ribosomal protein L32 pseudogene 33 pseudogene pseudogene Approved 17q24.3 17q24.3 2009-03-06 2011-11-07 100271493 ENSG00000243514 OTTHUMG00000157932 NG_010691 19123937 PGOHUM00000237503 HGNC:36231 +HGNC:35903 RPL32P34 ribosomal protein L32 pseudogene 34 pseudogene pseudogene Approved 19p13.3 19p13.3 2009-03-06 2016-07-25 100133162 ENSG00000239524 OTTHUMG00000157976 NG_010230 19123937 PGOHUM00000295168 HGNC:35903 +HGNC:36547 RPL32P35 ribosomal protein L32 pseudogene 35 pseudogene pseudogene Approved Xq25 Xq25 2009-03-06 2011-01-17 100271393 ENSG00000223995 OTTHUMG00000022367 NG_010177 19123937 PGOHUM00000241538 HGNC:36547 +HGNC:36613 RPL32P36 ribosomal protein L32 pseudogene 36 pseudogene pseudogene Approved Xp11.4 Xp11.4 2009-03-06 2020-04-30 392447 ENSG00000189145 NG_011329 19123937 HGNC:36613 +HGNC:10340 RPL34 ribosomal protein L34 protein-coding gene gene with protein product Approved 4q25 04q25 L34 L ribosomal proteins 729 1998-07-24 2015-09-09 6164 ENSG00000109475 OTTHUMG00000131839 uc003hza.4 AB007181 "NM_033625|NM_000995" CCDS3680 P49207 "9582194|7490091" MGI:1915686 RGD:1309402 616862 HGNC:10340 "ENST00000394667.8|NM_001319236.2" +HGNC:26749 RPL34-DT RPL34 divergent transcript non-coding RNA RNA, long non-coding Approved 4q25 04q25 "FLJ37673|RP11-462C24.1" RPL34-AS1 "RPL34 antisense RNA 1 (non-protein coding)|RPL34 antisense RNA 1|RPL34 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-05-28 2020-01-15 2020-01-15 2020-01-15 285456 ENSG00000234492 OTTHUMG00000161030 uc003hyy.3 NR_026968 "24908062|27683121" RPL34-AS1 HGNC:26749 +HGNC:10341 RPL34P1 ribosomal protein L34 pseudogene 1 pseudogene pseudogene Approved 1q24.2 01q24.2 2009-03-01 2015-08-24 26514 ENSG00000237049 OTTHUMG00000034647 AL021397 NG_000895 19123937 PGOHUM00000296646 HGNC:10341 +HGNC:10342 RPL34P2 ribosomal protein L34 pseudogene 2 pseudogene pseudogene Approved 11p13 11p13 2009-03-01 2014-11-18 26513 NG_000894 19123937 HGNC:10342 +HGNC:10343 RPL34P3 ribosomal protein L34 pseudogene 3 pseudogene pseudogene Approved 21q22.12 21q22.12 2000-05-23 2011-02-24 54026 ENSG00000223671 OTTHUMG00000086465 NG_011402 PGOHUM00000239071 HGNC:10343 +HGNC:36665 RPL34P4 ribosomal protein L34 pseudogene 4 pseudogene pseudogene Approved 1p36 01p36 2009-03-06 2009-03-11 100270889 NG_010221 19123937 HGNC:36665 +HGNC:36527 RPL34P5 ribosomal protein L34 pseudogene 5 pseudogene pseudogene Approved 1q21 01q21 2009-03-06 2009-03-11 100270995 NG_010769 19123937 HGNC:36527 +HGNC:35810 RPL34P6 ribosomal protein L34 pseudogene 6 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2015-08-24 100270998 ENSG00000231333 OTTHUMG00000035783 NG_010790 19123937 PGOHUM00000296721 HGNC:35810 +HGNC:35575 RPL34P7 ribosomal protein L34 pseudogene 7 pseudogene pseudogene Approved 1q42.12 01q42.12 2009-03-06 2009-03-11 100127995 NG_011301 19123937 HGNC:35575 +HGNC:36963 RPL34P8 ribosomal protein L34 pseudogene 8 pseudogene pseudogene Approved 2q12.1 02q12.1 2009-03-06 2019-12-19 100270999 ENSG00000237583 NG_010794 19123937 HGNC:36963 +HGNC:36771 RPL34P9 ribosomal protein L34 pseudogene 9 pseudogene pseudogene Approved 3q13.33 03q13.33 2009-03-06 2009-03-11 100271002 NG_010812 19123937 HGNC:36771 +HGNC:36962 RPL34P10 ribosomal protein L34 pseudogene 10 pseudogene pseudogene Approved 3q27.2 03q27.2 2009-03-06 2009-03-11 100271004 NG_010819 19123937 HGNC:36962 +HGNC:36412 RPL34P11 ribosomal protein L34 pseudogene 11 pseudogene pseudogene Approved 3p24.1 03p24.1 2009-03-06 2009-03-11 100130286 NG_011235 19123937 HGNC:36412 +HGNC:35845 RPL34P12 ribosomal protein L34 pseudogene 12 pseudogene pseudogene Approved 4q26 04q26 2009-03-06 2009-03-11 100270996 NG_010777 19123937 HGNC:35845 +HGNC:36398 RPL34P13 ribosomal protein L34 pseudogene 13 pseudogene pseudogene Approved 5q23 05q23 2009-03-06 2009-03-11 100270997 NG_010783 19123937 HGNC:36398 +HGNC:35927 RPL34P14 ribosomal protein L34 pseudogene 14 pseudogene pseudogene Approved 6p21.1 06p21.1 2009-03-06 2009-03-11 100129934 NG_010743 19123937 HGNC:35927 +HGNC:35965 RPL34P15 ribosomal protein L34 pseudogene 15 pseudogene pseudogene Approved 6q26 06q26 2009-03-06 2009-03-11 100271000 NG_010799 19123937 HGNC:35965 +HGNC:37033 RPL34P16 ribosomal protein L34 pseudogene 16 pseudogene pseudogene Approved 6p25.1 06p25.1 2009-03-06 2009-03-11 100133294 NG_009837 19123937 HGNC:37033 +HGNC:36636 RPL34P17 ribosomal protein L34 pseudogene 17 pseudogene pseudogene Approved 8q11.23 08q11.23 2009-03-06 2012-10-05 100271001 ENSG00000240534 OTTHUMG00000158611 NG_010806 19123937 PGOHUM00000249339 HGNC:36636 +HGNC:35968 RPL34P18 ribosomal protein L34 pseudogene 18 pseudogene pseudogene Approved 8q22.1 08q22.1 2009-03-06 2013-09-23 100271003 ENSG00000240509 OTTHUMG00000158665 NG_010815 19123937 PGOHUM00000249432 HGNC:35968 +HGNC:36925 RPL34P19 ribosomal protein L34 pseudogene 19 pseudogene pseudogene Approved 10p11.22 10p11.22 2009-03-06 2016-08-16 100271494 ENSG00000230240 OTTHUMG00000017914 NG_010697 19123937 PGOHUM00000290089 HGNC:36925 +HGNC:35535 RPL34P20 ribosomal protein L34 pseudogene 20 pseudogene pseudogene Approved 10q24.1 10q24.1 2009-03-06 2016-08-17 100271308 ENSG00000231508 OTTHUMG00000018852 NG_011055 19123937 PGOHUM00000289970 HGNC:35535 +HGNC:35677 RPL34P21 ribosomal protein L34 pseudogene 21 pseudogene pseudogene Approved 11q24.3 11q24.3 2009-03-06 2017-10-30 100271495 ENSG00000244451 OTTHUMG00000158483 NG_010705 19123937 PGOHUM00000290760 HGNC:35677 +HGNC:36454 RPL34P22 ribosomal protein L34 pseudogene 22 pseudogene pseudogene Approved 11p11.2 11p11.2 2009-03-06 2013-09-23 100271498 ENSG00000244267 OTTHUMG00000158375 NG_010718 19123937 PGOHUM00000250399 HGNC:36454 +HGNC:35820 RPL34P23 ribosomal protein L34 pseudogene 23 pseudogene pseudogene Approved 11q24.1 11q24.1 2009-03-06 2017-10-30 100271499 ENSG00000243669 OTTHUMG00000158475 NG_010725 19123937 PGOHUM00000291154 HGNC:35820 +HGNC:36823 RPL34P24 ribosomal protein L34 pseudogene 24 pseudogene pseudogene Approved 11p15.5-p14 11p15.5-p14 2009-03-06 2009-03-11 100271309 NG_011059 19123937 HGNC:36823 +HGNC:35895 RPL34P25 ribosomal protein L34 pseudogene 25 pseudogene pseudogene Approved 12p12 12p12 2009-03-06 2009-03-11 100271501 NG_010736 19123937 HGNC:35895 +HGNC:36100 RPL34P26 ribosomal protein L34 pseudogene 26 pseudogene pseudogene Approved 13q14.3 13q14.3 2009-03-06 2010-11-29 100130718 ENSG00000223676 OTTHUMG00000016931 NG_010834 19123937 PGOHUM00000248399 HGNC:36100 +HGNC:36369 RPL34P27 ribosomal protein L34 pseudogene 27 pseudogene pseudogene Approved 13q12.13 13q12.13 2009-03-06 2016-10-05 651249 ENSG00000232858 OTTHUMG00000016594 NG_011246 19123937 PGOHUM00000248337 HGNC:36369 +HGNC:36781 RPL34P28 ribosomal protein L34 pseudogene 28 pseudogene pseudogene Approved 14q22 14q22 2009-03-06 2009-03-11 100271500 NG_010730 19123937 HGNC:36781 +HGNC:35631 RPL34P29 ribosomal protein L34 pseudogene 29 pseudogene pseudogene Approved 16q12.1 16q12.1 2009-03-06 2013-09-23 100271503 ENSG00000244551 OTTHUMG00000173493 NG_010747 19123937 PGOHUM00000249128 HGNC:35631 +HGNC:36477 RPL34P30 ribosomal protein L34 pseudogene 30 pseudogene pseudogene Approved 17q21 17q21 2009-03-06 2009-03-11 100271505 NG_010760 19123937 HGNC:36477 +HGNC:36899 RPL34P31 ribosomal protein L34 pseudogene 31 pseudogene pseudogene Approved 17q11.1 17q11.1 2009-03-06 2017-10-30 729536 ENSG00000239223 OTTHUMG00000157754 NG_010995 19123937 PGOHUM00000294361 HGNC:36899 +HGNC:36902 RPL34P32 ribosomal protein L34 pseudogene 32 pseudogene pseudogene Approved 18q11.2 18q11.2 2009-03-06 2009-03-11 100271502 NG_010742 19123937 HGNC:36902 +HGNC:36666 RPL34P33 ribosomal protein L34 pseudogene 33 pseudogene pseudogene Approved 19p12 19p12 2009-03-06 2016-07-25 730061 ENSG00000241282 OTTHUMG00000158099 NG_011383 19123937 PGOHUM00000295303 HGNC:36666 +HGNC:35848 RPL34P34 ribosomal protein L34 pseudogene 34 pseudogene pseudogene Approved 19p12 19p12 2009-03-06 2016-07-25 342994 ENSG00000236312 OTTHUMG00000158097 NG_011088 19123937 PGOHUM00000294949 HGNC:35848 +HGNC:35798 RPL34P35 ribosomal protein L34 pseudogene 35 pseudogene pseudogene Approved 22q11.21 22q11.21 2009-03-06 2009-03-11 100271504 NG_010754 19123937 HGNC:35798 +HGNC:55008 RPL34P36 RPL34 pseudogene 36 pseudogene pseudogene Approved Xq21.31 Xq21.31 2020-05-21 2020-05-21 117981797 ENSG00000270446 NG_070712 +HGNC:10344 RPL35 ribosomal protein L35 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 L35 60S ribosomal protein L35 L ribosomal proteins 729 1999-09-16 2016-10-05 11224 ENSG00000136942 OTTHUMG00000020659 uc004boy.2 U12465 NM_007209 CCDS6858 P42766 11401437 MGI:1913739 RGD:1303007 618315 HGNC:10344 "ENST00000348462.6|NM_007209.4" HGNC:10344 +HGNC:10345 RPL35A ribosomal protein L35a protein-coding gene gene with protein product Approved 3q29 03q29 "L35A|eL33|GIG33" L ribosomal proteins 729 1991-11-29 2021-05-26 6165 ENSG00000182899 OTTHUMG00000155386 uc003fyr.4 X52966 NM_000996 CCDS33930 P18077 "1577483|8786106" MGI:1928894 RGD:2323795 "Diamond-Blackfan Anemia|http://www.dbagenes.unito.it/home.php?select_db=RPL35A|LRG_1129|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1129.xml" 180468 171057 HGNC:10345 "ENST00000647248.2|NM_000996.4" HGNC:10345 +HGNC:16546 RPL35AP ribosomal protein L35a pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 bA456N23.1 2009-03-01 2017-10-30 140716 ENSG00000234075 OTTHUMG00000032670 NG_000987 19123937 PGOHUM00000297015 HGNC:16546 +HGNC:19914 RPL35AP2 ribosomal protein L35a pseudogene 2 pseudogene pseudogene Approved 9p13.3 09p13.3 bA571F15.2 2009-03-01 2020-06-09 652983 ENSG00000227383 AL353662 NG_005490 19123937 PGOHUM00000304161 HGNC:19914 +HGNC:21117 RPL35AP3 ribosomal protein L35a pseudogene 3 pseudogene pseudogene Approved 6q23.3 06q23.3 bA55K22.4 2009-03-01 2014-11-19 387074 ENSG00000230350 OTTHUMG00000015649 NG_009761 19123937 PGOHUM00000243391 HGNC:21117 +HGNC:33460 RPL35AP4 ribosomal protein L35a pseudogene 4 pseudogene pseudogene Approved 6p21 06p21 "BPG294E21.7|OTTHUMG00000140156" 2007-05-02 2014-11-19 100048922 ENSG00000225644 OTTHUMG00000140156 NG_009762 HGNC:33460 +HGNC:35570 RPL35AP5 ribosomal protein L35a pseudogene 5 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2020-06-09 100132122 ENSG00000223505 NG_010132 19123937 PGOHUM00000296017 HGNC:35570 +HGNC:36793 RPL35AP6 ribosomal protein L35a pseudogene 6 pseudogene pseudogene Approved 1q44 01q44 2009-03-06 2020-06-09 100271312 ENSG00000228879 NG_011079 19123937 PGOHUM00000296152 HGNC:36793 +HGNC:36212 RPL35AP7 ribosomal protein L35a pseudogene 7 pseudogene pseudogene Approved 1q23.3 01q23.3 2009-03-06 2020-06-09 100128984 ENSG00000225487 NG_011118 19123937 PGOHUM00000295941 HGNC:36212 +HGNC:36976 RPL35AP8 ribosomal protein L35a pseudogene 8 pseudogene pseudogene Approved 3p22.1 03p22.1 2009-03-06 2020-06-09 100271310 ENSG00000235787 NG_011066 19123937 PGOHUM00000299417 HGNC:36976 +HGNC:35643 RPL35AP9 ribosomal protein L35a pseudogene 9 pseudogene pseudogene Approved 3q25.32 03q25.32 2009-03-06 2020-06-09 100271311 ENSG00000243675 NG_011072 19123937 PGOHUM00000299641 HGNC:35643 +HGNC:35905 RPL35AP10 ribosomal protein L35a pseudogene 10 pseudogene pseudogene Approved 3q25.33 03q25.33 2009-03-06 2020-06-09 100271313 ENSG00000243687 NG_011082 19123937 PGOHUM00000299643 HGNC:35905 +HGNC:35708 RPL35AP11 ribosomal protein L35a pseudogene 11 pseudogene pseudogene Approved 4q22.3 04q22.3 2009-03-06 2020-06-09 100271314 ENSG00000241103 NG_011086 19123937 PGOHUM00000300295 HGNC:35708 +HGNC:36068 RPL35AP12 ribosomal protein L35a pseudogene 12 pseudogene pseudogene Approved 4q32.2 04q32.2 2009-03-06 2013-09-23 100271316 ENSG00000227283 OTTHUMG00000155271 NG_011094 19123937 PGOHUM00000246125 HGNC:36068 +HGNC:35916 RPL35AP13 ribosomal protein L35a pseudogene 13 pseudogene pseudogene Approved 5q13.2 05q13.2 2009-03-06 2020-06-09 100131945 ENSG00000242602 NG_010547 19123937 PGOHUM00000300630 HGNC:35916 +HGNC:36783 RPL35AP14 ribosomal protein L35a pseudogene 14 pseudogene pseudogene Approved 5q12.1 05q12.1 2009-03-06 2020-06-09 100271315 ENSG00000240436 NG_011091 19123937 PGOHUM00000300602 HGNC:36783 +HGNC:36974 RPL35AP15 ribosomal protein L35a pseudogene 15 pseudogene pseudogene Approved 5q23.1 05q23.1 2009-03-06 2013-09-23 100271317 ENSG00000243758 OTTHUMG00000157829 NG_011098 19123937 PGOHUM00000235365 HGNC:36974 +HGNC:35485 RPL35AP16 ribosomal protein L35a pseudogene 16 pseudogene pseudogene Approved 5q32 05q32 2009-03-06 2020-06-09 100271318 ENSG00000239602 NG_011105 19123937 PGOHUM00000301154 HGNC:35485 +HGNC:36384 RPL35AP17 ribosomal protein L35a pseudogene 17 pseudogene pseudogene Approved 5q32 05q32 2009-03-06 2020-06-09 100271319 ENSG00000239317 NG_011112 19123937 PGOHUM00000301155 HGNC:36384 +HGNC:36812 RPL35AP18 ribosomal protein L35a pseudogene 18 pseudogene pseudogene Approved 6q14.1 06q14.1 2009-03-06 2017-10-30 100271321 ENSG00000220311 OTTHUMG00000015086 NG_011120 19123937 PGOHUM00000301863 HGNC:36812 +HGNC:36631 RPL35AP19 ribosomal protein L35a pseudogene 19 pseudogene pseudogene Approved 8q24.12 08q24.12 2009-03-06 2013-09-23 100271322 ENSG00000239872 OTTHUMG00000158692 NG_011123 19123937 PGOHUM00000249498 HGNC:36631 +HGNC:36053 RPL35AP20 ribosomal protein L35a pseudogene 20 pseudogene pseudogene Approved 9p24.1 09p24.1 2009-03-06 2020-06-09 100128277 ENSG00000232946 NG_010099 19123937 PGOHUM00000304103 HGNC:36053 +HGNC:36814 RPL35AP21 ribosomal protein L35a pseudogene 21 pseudogene pseudogene Approved 9q21.13 09q21.13 2009-03-06 2013-09-23 100271506 ENSG00000229814 OTTHUMG00000019999 NG_010765 19123937 PGOHUM00000236636 HGNC:36814 +HGNC:35932 RPL35AP22 ribosomal protein L35a pseudogene 22 pseudogene pseudogene Approved 9q33.1 09q33.1 2009-03-06 2013-09-23 100271507 ENSG00000235133 OTTHUMG00000020562 NG_010771 19123937 PGOHUM00000236320 HGNC:35932 +HGNC:36045 RPL35AP23 ribosomal protein L35a pseudogene 23 pseudogene pseudogene Approved 10q11.22 10q11.22 RPL35AP25 ribosomal protein L35a pseudogene 25 2009-03-06 2019-04-02 100271633 ENSG00000264217 OTTHUMG00000188288 NG_010067 19123937 PGOHUM00000290139 HGNC:36045 +HGNC:35544 RPL35AP24 ribosomal protein L35a pseudogene 24 pseudogene pseudogene Approved 10q11.23 10q11.23 2009-03-06 2016-08-17 100271631 ENSG00000230166 OTTHUMG00000018202 NG_010055 19123937 PGOHUM00000290156 HGNC:35544 +HGNC:36465 RPL35AP26 ribosomal protein L35a pseudogene 26 pseudogene pseudogene Approved 11q24.2 11q24.2 2009-03-06 2017-10-30 100271630 ENSG00000243607 OTTHUMG00000158480 NG_010048 19123937 PGOHUM00000290753 HGNC:36465 +HGNC:35979 RPL35AP27 ribosomal protein L35a pseudogene 27 pseudogene pseudogene Approved 12p11.21 12p11.21 2009-03-06 2020-06-09 100271635 ENSG00000244743 NG_010083 19123937 PGOHUM00000291616 HGNC:35979 +HGNC:36480 RPL35AP28 ribosomal protein L35a pseudogene 28 pseudogene pseudogene Approved 12q13.12 12q13.12 2009-03-06 2017-03-22 100271637 ENSG00000242041 OTTHUMG00000157566 NG_010097 19123937 PGOHUM00000291656 HGNC:36480 +HGNC:35569 RPL35AP29 ribosomal protein L35a pseudogene 29 pseudogene pseudogene Approved 12q13.13 12q13.13 2009-03-06 2020-06-09 100271638 ENSG00000244540 NG_010103 19123937 PGOHUM00000291660 HGNC:35569 +HGNC:36751 RPL35AP30 ribosomal protein L35a pseudogene 30 pseudogene pseudogene Approved 12q24.23 12q24.23 2009-03-06 2017-10-30 100271639 ENSG00000226729 OTTHUMG00000157759 NG_010110 19123937 PGOHUM00000291818 HGNC:36751 +HGNC:36284 RPL35AP31 ribosomal protein L35a pseudogene 31 pseudogene pseudogene Approved 13q21.33 13q21.33 2009-03-06 2016-10-05 100271640 ENSG00000233460 OTTHUMG00000017064 NG_010117 19123937 PGOHUM00000248629 HGNC:36284 +HGNC:36269 RPL35AP32 ribosomal protein L35a pseudogene 32 pseudogene pseudogene Approved 15q22.31 15q22.31 2009-03-06 2017-10-30 100271632 ENSG00000243404 OTTHUMG00000157977 NG_010061 19123937 PGOHUM00000292993 HGNC:36269 +HGNC:36950 RPL35AP33 ribosomal protein L35a pseudogene 33 pseudogene pseudogene Approved 16q22.1 16q22.1 2009-03-06 2017-10-30 100271634 ENSG00000241334 OTTHUMG00000158185 NG_010077 19123937 PGOHUM00000293634 HGNC:36950 +HGNC:36324 RPL35AP34 ribosomal protein L35a pseudogene 34 pseudogene pseudogene Approved 16p13.12 16p13.12 2009-03-06 2020-06-09 100271641 ENSG00000241932 NG_010123 19123937 PGOHUM00000293707 HGNC:36324 +HGNC:36677 RPL35AP35 ribosomal protein L35a pseudogene 35 pseudogene pseudogene Approved 17q11.2 17q11.2 2009-03-06 2017-10-30 100271636 ENSG00000239256 OTTHUMG00000157776 NG_010088 19123937 PGOHUM00000294045 HGNC:36677 +HGNC:36103 RPL35AP36 ribosomal protein L35a pseudogene 36 pseudogene pseudogene Approved 22q13.31 22q13.31 2009-03-06 2020-06-09 100128393 ENSG00000224856 NG_010715 19123937 PGOHUM00000297777 HGNC:36103 +HGNC:36426 RPL35AP37 ribosomal protein L35a pseudogene 37 pseudogene pseudogene Approved Xp22.2 Xp22.2 2009-03-06 2020-04-17 100128807 ENSG00000236929 NG_010212 19123937 HGNC:36426 +HGNC:36695 RPL35P1 ribosomal protein L35 pseudogene 1 pseudogene pseudogene Approved 1q43 01q43 2009-03-06 2010-12-03 440737 ENSG00000237991 OTTHUMG00000040064 NG_010846 19123937 PGOHUM00000245265 HGNC:36695 +HGNC:35789 RPL35P2 ribosomal protein L35 pseudogene 2 pseudogene pseudogene Approved 6p21.31 06p21.31 2009-03-06 2010-12-03 646766 ENSG00000220583 OTTHUMG00000014541 NG_009694 19123937 PGOHUM00000243158 HGNC:35789 +HGNC:35488 RPL35P3 ribosomal protein L35 pseudogene 3 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2010-12-03 728010 ENSG00000219902 OTTHUMG00000015294 NG_011046 19123937 PGOHUM00000243313 HGNC:35488 +HGNC:36285 RPL35P4 ribosomal protein L35 pseudogene 4 pseudogene pseudogene Approved 7p15.2 07p15.2 2009-03-06 2010-12-03 100271006 ENSG00000213783 OTTHUMG00000033372 NG_010829 19123937 PGOHUM00000232626 HGNC:36285 +HGNC:36955 RPL35P5 ribosomal protein L35 pseudogene 5 pseudogene pseudogene Approved 7q11.21 07q11.21 2009-03-06 2010-12-03 441246 ENSG00000225573 OTTHUMG00000156759 NG_009598 19123937 PGOHUM00000232852 HGNC:36955 +HGNC:35520 RPL35P6 ribosomal protein L35 pseudogene 6 pseudogene pseudogene Approved 8p22 08p22 2009-03-06 2010-12-03 100271007 ENSG00000244018 OTTHUMG00000158575 NG_010835 19123937 PGOHUM00000249263 HGNC:35520 +HGNC:35740 RPL35P7 ribosomal protein L35 pseudogene 7 pseudogene pseudogene Approved 13q33.3 13q33.3 2009-03-06 2009-03-11 341604 NG_010519 19123937 HGNC:35740 +HGNC:36158 RPL35P8 ribosomal protein L35 pseudogene 8 pseudogene pseudogene Approved 22q13.33 22q13.33 2009-03-06 2016-10-05 643653 ENSG00000226142 OTTHUMG00000150301 NG_010367 19123937 PGOHUM00000246354 HGNC:36158 +HGNC:39402 RPL35P9 ribosomal protein L35 pseudogene 9 pseudogene pseudogene Approved 13q33.3 13q33.3 2010-12-03 2010-12-03 100873796 ENSG00000174418 OTTHUMG00000017320 NG_032288 PGOHUM00000248681 HGNC:39402 +HGNC:13631 RPL36 ribosomal protein L36 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "DKFZp566B023|L36" L ribosomal proteins 729 2000-09-27 2020-04-02 25873 ENSG00000130255 OTTHUMG00000178585 uc060sbs.1 NM_015414 CCDS12147 Q9Y3U8 MGI:1860603 RGD:62085 617893 471002 HGNC:13631 "ENST00000347512.8|NM_033643.3" +HGNC:10359 RPL36A ribosomal protein L36a protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 L36A RPL44 ribosomal protein L44 L ribosomal proteins 729 1993-01-19 2002-01-18 2002-01-15 2020-04-02 6173 ENSG00000241343 OTTHUMG00000022027 uc065agx.1 BC001781 NM_021029 CCDS14483 P83881 3461443 MGI:1201789 RGD:1306640 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPL36A 300902 HGNC:10359 "ENST00000553110.8|NM_021029.6" +HGNC:48349 RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough other readthrough Approved Xq22.1 Xq22.1 2013-05-10 2013-05-10 100529097 ENSG00000257529 OTTHUMG00000170052 NM_001199973 HGNC:48349 +HGNC:10346 RPL36AL ribosomal protein L36a like protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "RPL36A|RPL36AP42" "ribosomal protein L36a|ribosomal protein L36a-like|ribosomal protein L36a pseudogene 42" L ribosomal proteins 729 1991-11-29 2002-01-18 2015-11-17 2022-02-08 6166 ENSG00000165502 OTTHUMG00000152330 uc001wwq.4 BC000741 NM_001001 CCDS9689 Q969Q0 1577483 MGI:1913733 RGD:621156 180469 HGNC:10346 "ENST00000298289.7|NM_001001.5" +HGNC:23548 RPL36AP1 ribosomal protein L36a pseudogene 1 pseudogene pseudogene Approved 14q22.3 14q22.3 2009-03-01 2022-01-26 100131379 ENSG00000242995 AL161757 NG_009389 19123937 PGOHUM00000292361 HGNC:23548 +HGNC:19777 RPL36AP2 ribosomal protein L36a pseudogene 2 pseudogene pseudogene Approved 14q23.3 14q23.3 2009-03-01 2022-01-26 326301 ENSG00000214759 NG_002553 19123937 PGOHUM00000292700 HGNC:19777 +HGNC:19802 RPL36AP4 ribosomal protein L36a pseudogene 4 pseudogene pseudogene Approved 14q32.12 14q32.12 2009-03-01 2022-01-26 326304 ENSG00000241499 NG_002556 19123937 PGOHUM00000292753 HGNC:19802 +HGNC:21258 RPL36AP5 ribosomal protein L36a pseudogene 5 pseudogene pseudogene Approved 6p21.1 06p21.1 bA256G5.1 2009-03-01 2022-02-04 387090 ENSG00000237107 NG_009373 19123937 PGOHUM00000301795 HGNC:21258 +HGNC:23365 RPL36AP6 ribosomal protein L36a pseudogene 6 pseudogene pseudogene Approved 9q31.2 09q31.2 bA380I20.1 2009-03-01 2014-11-19 641556 ENSG00000231293 OTTHUMG00000020453 AL162389 NG_009374 19123937 PGOHUM00000261532 HGNC:23365 +HGNC:31328 RPL36AP7 ribosomal protein L36a pseudogene 7 pseudogene pseudogene Approved 17q25.1 17q25.1 2009-03-01 2022-01-26 728202 ENSG00000228007 AC011933 NG_006535 19123937 PGOHUM00000294548 HGNC:31328 +HGNC:30973 RPL36AP8 ribosomal protein L36a pseudogene 8 pseudogene pseudogene Approved 15q14 15q14 2009-03-01 2022-01-27 643007 ENSG00000231409 NG_009452 19123937 PGOHUM00000293206 HGNC:30973 +HGNC:35872 RPL36AP9 ribosomal protein L36a pseudogene 9 pseudogene pseudogene Approved 1p34.2 01p34.2 2009-03-06 2022-01-27 100271139 ENSG00000213987 NG_010185 19123937 PGOHUM00000295637 HGNC:35872 +HGNC:36175 RPL36AP10 ribosomal protein L36a pseudogene 10 pseudogene pseudogene Approved 1p22.2 01p22.2 2009-03-06 2013-09-23 100271140 ENSG00000237959 OTTHUMG00000010023 NG_010190 19123937 PGOHUM00000261309 HGNC:36175 +HGNC:36385 RPL36AP11 ribosomal protein L36a pseudogene 11 pseudogene pseudogene Approved 1p22.1 01p22.1 2009-03-06 2022-01-27 100129180 ENSG00000237003 NG_010823 19123937 PGOHUM00000295751 HGNC:36385 +HGNC:35897 RPL36AP12 ribosomal protein L36a pseudogene 12 pseudogene pseudogene Approved 1p21.2 01p21.2 2009-03-06 2022-01-27 100130034 ENSG00000224685 NG_011254 19123937 PGOHUM00000296423 HGNC:35897 +HGNC:35877 RPL36AP13 ribosomal protein L36a pseudogene 13 pseudogene pseudogene Approved 2p23.3 02p23.3 2009-03-06 2013-09-19 100271323 ENSG00000233747 OTTHUMG00000157046 NG_011127 19123937 PGOHUM00000261351 HGNC:35877 +HGNC:36788 RPL36AP14 ribosomal protein L36a pseudogene 14 pseudogene pseudogene Approved 2p21-p16 02p21-p16 2009-03-06 2019-10-16 100271324 ENSG00000233335 NG_011136 19123937 HGNC:36788 +HGNC:36648 RPL36AP15 ribosomal protein L36a pseudogene 15 pseudogene pseudogene Approved 2p16.3 02p16.3 2009-03-06 2016-10-05 100271325 ENSG00000235369 OTTHUMG00000151838 NG_011142 19123937 PGOHUM00000250427 HGNC:36648 +HGNC:36416 RPL36AP16 ribosomal protein L36a pseudogene 16 pseudogene pseudogene Approved 2p14 02p14 2009-03-06 2020-01-08 100271327 ENSG00000232228 NG_011153 19123937 HGNC:36416 +HGNC:35750 RPL36AP17 ribosomal protein L36a pseudogene 17 pseudogene pseudogene Approved 3p22.3 03p22.3 2009-03-06 2022-01-27 100271326 ENSG00000226489 NG_011148 19123937 PGOHUM00000299398 HGNC:35750 +HGNC:35484 RPL36AP18 ribosomal protein L36a pseudogene 18 pseudogene pseudogene Approved 4q21.1 04q21.1 2009-03-06 2022-01-27 100271328 ENSG00000240426 NG_011157 19123937 PGOHUM00000300264 HGNC:35484 +HGNC:36436 RPL36AP19 ribosomal protein L36a pseudogene 19 pseudogene pseudogene Approved 4q25 04q25 2009-03-06 2022-01-27 100271330 ENSG00000243280 NG_011165 19123937 PGOHUM00000300327 HGNC:36436 +HGNC:36250 RPL36AP20 ribosomal protein L36a pseudogene 20 pseudogene pseudogene Approved 5q33.1 05q33.1 2009-03-06 2022-01-27 100271329 ENSG00000242080 NG_011160 19123937 PGOHUM00000300794 HGNC:36250 +HGNC:37041 RPL36AP21 ribosomal protein L36a pseudogene 21 pseudogene pseudogene Approved 5p15.1 05p15.1 2009-03-06 2013-09-23 100271332 ENSG00000240785 OTTHUMG00000157629 NG_011174 19123937 PGOHUM00000261404 HGNC:37041 +HGNC:36002 RPL36AP23 ribosomal protein L36a pseudogene 23 pseudogene pseudogene Approved 4q25 04q25 2009-03-06 2022-01-27 729075 ENSG00000241722 NG_011389 19123937 PGOHUM00000300324 HGNC:36002 +HGNC:36252 RPL36AP24 ribosomal protein L36a pseudogene 24 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2022-01-27 100271508 ENSG00000238055 NG_010779 19123937 PGOHUM00000301908 HGNC:36252 +HGNC:35926 RPL36AP25 ribosomal protein L36a pseudogene 25 pseudogene pseudogene Approved 6p22.3 06p22.3 2009-03-06 2022-01-27 100271331 ENSG00000225832 NG_011170 19123937 PGOHUM00000301264 HGNC:35926 +HGNC:36758 RPL36AP26 ribosomal protein L36a pseudogene 26 pseudogene pseudogene Approved 7p21.2 07p21.2 2009-03-06 2017-10-30 729909 ENSG00000235828 OTTHUMG00000152393 NG_011362 19123937 PGOHUM00000302053 HGNC:36758 +HGNC:35650 RPL36AP27 ribosomal protein L36a pseudogene 27 pseudogene pseudogene Approved 7p13 07p13 2009-03-06 2022-01-27 100128072 ENSG00000225443 NG_010387 19123937 PGOHUM00000302119 HGNC:35650 +HGNC:36702 RPL36AP28 ribosomal protein L36a pseudogene 28 pseudogene pseudogene Approved 7q36.1 07q36.1 2009-03-06 2022-01-27 100271509 ENSG00000225416 NG_010785 19123937 PGOHUM00000302492 HGNC:36702 +HGNC:36897 RPL36AP29 ribosomal protein L36a pseudogene 29 pseudogene pseudogene Approved 7p21.2 07p21.2 2009-03-06 2013-07-23 100271510 ENSG00000224683 OTTHUMG00000152449 NG_010792 19123937 PGOHUM00000261479 HGNC:36897 +HGNC:36216 RPL36AP30 ribosomal protein L36a pseudogene 30 pseudogene pseudogene Approved 7q36.3 07q36.3 2009-03-06 2022-01-27 100271511 ENSG00000224629 NG_010796 19123937 PGOHUM00000302498 HGNC:36216 +HGNC:36066 RPL36AP31 ribosomal protein L36a pseudogene 31 pseudogene pseudogene Approved 8q21.3 08q21.3 2009-03-06 2022-01-27 642320 ENSG00000227753 NG_010062 19123937 PGOHUM00000303613 HGNC:36066 +HGNC:36540 RPL36AP32 ribosomal protein L36a pseudogene 32 pseudogene pseudogene Approved 8p21.1 08p21.1 2009-03-06 2022-01-27 100271512 ENSG00000242958 NG_010801 19123937 PGOHUM00000303489 HGNC:36540 +HGNC:36475 RPL36AP33 ribosomal protein L36a pseudogene 33 pseudogene pseudogene Approved 9p13.3 09p13.3 2009-03-06 2013-09-23 100191039 ENSG00000235619 OTTHUMG00000019860 NG_008765 19123937 PGOHUM00000261537 HGNC:36475 +HGNC:35882 RPL36AP34 ribosomal protein L36a pseudogene 34 pseudogene pseudogene Approved 9p21.2 09p21.2 2009-03-06 2022-01-26 100271513 ENSG00000232867 NG_010808 19123937 PGOHUM00000304137 HGNC:35882 +HGNC:35639 RPL36AP35 ribosomal protein L36a pseudogene 35 pseudogene pseudogene Approved 9q31.3 09q31.3 2009-03-06 2013-09-23 100271610 ENSG00000231810 OTTHUMG00000020460 NG_011295 19123937 HGNC:35639 +HGNC:36326 RPL36AP36 ribosomal protein L36a pseudogene 36 pseudogene pseudogene Approved 10p13 10p13 2009-03-06 2016-08-17 644834 ENSG00000237540 OTTHUMG00000017687 NG_011167 19123937 PGOHUM00000289746 HGNC:36326 +HGNC:36969 RPL36AP37 ribosomal protein L36a pseudogene 37 pseudogene pseudogene Approved 11p15.1 11p15.1 2009-03-06 2022-01-27 729362 ENSG00000244398 NG_010078 19123937 PGOHUM00000290405 HGNC:36969 +HGNC:35594 RPL36AP38 ribosomal protein L36a pseudogene 38 pseudogene pseudogene Approved 11q13.4 11q13.4 2009-03-06 2022-01-27 100271642 ENSG00000241097 NG_010129 19123937 PGOHUM00000290593 HGNC:35594 +HGNC:36074 RPL36AP39 ribosomal protein L36a pseudogene 39 pseudogene pseudogene Approved 11p15.5 11p15.5 2009-03-06 2013-09-23 100271643 ENSG00000230980 OTTHUMG00000045386 NG_010138 19123937 PGOHUM00000261119 HGNC:36074 +HGNC:36300 RPL36AP40 ribosomal protein L36a pseudogene 40 pseudogene pseudogene Approved 11p14.3 11p14.3 2009-03-06 2017-10-30 554234 ENSG00000240298 OTTHUMG00000158318 NG_005141 19123937 PGOHUM00000290423 HGNC:36300 +HGNC:35813 RPL36AP41 ribosomal protein L36a pseudogene 41 pseudogene pseudogene Approved 12q14.2 12q14.2 2009-03-06 2012-03-22 100271644 ENSG00000242087 OTTHUMG00000157601 NG_010145 19123937 PGOHUM00000261136 HGNC:35813 +HGNC:36791 RPL36AP43 ribosomal protein L36a pseudogene 43 pseudogene pseudogene Approved 15q26.1 15q26.1 2009-03-06 2017-10-30 100271646 ENSG00000241362 OTTHUMG00000158054 NG_010155 19123937 PGOHUM00000293071 HGNC:36791 +HGNC:36986 RPL36AP44 ribosomal protein L36a pseudogene 44 pseudogene pseudogene Approved 15q22.2 15q22.2 2009-03-06 2022-01-27 100132199 ENSG00000240163 NG_010534 19123937 PGOHUM00000293263 HGNC:36986 +HGNC:36032 RPL36AP45 ribosomal protein L36a pseudogene 45 pseudogene pseudogene Approved 15q24.2 15q24.2 2009-03-06 2017-10-30 441727 ENSG00000240366 OTTHUMG00000158029 NG_011373 19123937 PGOHUM00000293016 HGNC:36032 +HGNC:35812 RPL36AP46 ribosomal protein L36a pseudogene 46 pseudogene pseudogene Approved 17q23.2 17q23.2 2009-03-06 2022-01-27 729621 ENSG00000224011 NG_010098 19123937 PGOHUM00000294175 HGNC:35812 +HGNC:35624 RPL36AP47 ribosomal protein L36a pseudogene 47 pseudogene pseudogene Approved 17q23.2 17q23.2 2009-03-06 2022-01-27 100271647 ENSG00000242123 NG_011347 19123937 PGOHUM00000294507 HGNC:35624 +HGNC:36721 RPL36AP48 ribosomal protein L36a pseudogene 48 pseudogene pseudogene Approved 17q24.2 17q24.2 2009-03-06 2012-10-05 646175 ENSG00000213180 OTTHUMG00000157925 NG_010166 19123937 PGOHUM00000261245 HGNC:36721 +HGNC:36274 RPL36AP49 ribosomal protein L36a pseudogene 49 pseudogene pseudogene Approved 18p11.21 18p11.21 2009-03-06 2022-01-27 284230 ENSG00000243779 NG_010372 19123937 PGOHUM00000294597 HGNC:36274 +HGNC:36372 RPL36AP50 ribosomal protein L36a pseudogene 50 pseudogene pseudogene Approved 19q13.42 19q13.42 2009-03-06 2022-01-27 100271648 ENSG00000243494 NG_010171 19123937 PGOHUM00000295473 HGNC:36372 +HGNC:36632 RPL36AP51 ribosomal protein L36a pseudogene 51 pseudogene pseudogene Approved 19p12 19p12 2009-03-06 2016-07-25 649299 ENSG00000242291 OTTHUMG00000158088 NG_010444 19123937 PGOHUM00000295275 HGNC:36632 +HGNC:55144 RPL36AP52 RPL36A pseudogene 52 pseudogene pseudogene Approved Xq27.1 Xq27.1 2020-07-15 2020-07-15 207032 ENSG00000214925 NG_001571 +HGNC:36517 RPL36AP53 ribosomal protein L36a pseudogene 53 pseudogene pseudogene Approved Xq23 Xq23 2009-03-06 2012-10-16 100271611 ENSG00000224664 OTTHUMG00000022222 NG_011299 19123937 PGOHUM00000261816 HGNC:36517 +HGNC:35831 RPL36AP54 ribosomal protein L36a pseudogene 54 pseudogene pseudogene Approved Xq26 Xq26 2009-03-06 2020-07-03 100271612 ENSG00000226107 NG_011305 19123937 HGNC:35831 +HGNC:44939 RPL36AP55 ribosomal protein L36a pseudogene 55 pseudogene pseudogene Approved 10p12.1 10p12.1 2012-12-19 2012-12-19 100420206 ENSG00000226016 OTTHUMG00000017864 NG_025480 PGOHUM00000261090 HGNC:44939 +HGNC:16338 RPL36P1 ribosomal protein L36 pseudogene 1 pseudogene pseudogene Approved 20q13.2 20q13.2 bA80K6.3 2009-03-01 2016-10-05 140697 ENSG00000230636 OTTHUMG00000032761 NG_000983 19123937 PGOHUM00000297143 HGNC:16338 +HGNC:16570 RPL36P2 ribosomal protein L36 pseudogene 2 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ530I15.5 2009-03-01 2016-07-25 140751 ENSG00000231302 OTTHUMG00000032728 AL133230 NG_000994 19123937 PGOHUM00000297139 HGNC:16570 +HGNC:19786 RPL36P3 ribosomal protein L36 pseudogene 3 pseudogene pseudogene Approved 14q24.2 14q24.2 RPL36AP3 ribosomal protein L36a pseudogene 3 2009-03-01 2009-03-02 2009-03-02 2022-01-26 326303 ENSG00000176043 NG_002555 19123937 PGOHUM00000292402 HGNC:19786 +HGNC:16569 RPL36P4 ribosomal protein L36 pseudogene 4 pseudogene pseudogene Approved 20q11.22 20q11.22 dJ477O4.3 2009-03-01 2014-11-19 140750 ENSG00000224497 OTTHUMG00000032338 NG_000993 19123937 PGOHUM00000247522 HGNC:16569 +HGNC:35567 RPL36P5 ribosomal protein L36 pseudogene 5 pseudogene pseudogene Approved 1p36.11 01p36.11 2009-03-06 2022-01-26 127295 ENSG00000215905 NG_010335 19123937 PGOHUM00000295590 HGNC:35567 +HGNC:36046 RPL36P6 ribosomal protein L36 pseudogene 6 pseudogene pseudogene Approved 1q43 01q43 2009-03-06 2022-01-26 100271008 ENSG00000224348 NG_010839 19123937 PGOHUM00000296126 HGNC:36046 +HGNC:35830 RPL36P7 ribosomal protein L36 pseudogene 7 pseudogene pseudogene Approved 3q29 03q29 2009-03-06 2022-01-26 100271010 ENSG00000213519 NG_010847 19123937 PGOHUM00000299320 HGNC:35830 +HGNC:36493 RPL36P8 ribosomal protein L36 pseudogene 8 pseudogene pseudogene Approved 4q21.1 04q21.1 2009-03-06 2022-01-26 643205 ENSG00000225846 NG_010694 19123937 PGOHUM00000299893 HGNC:36493 +HGNC:36746 RPL36P9 ribosomal protein L36 pseudogene 9 pseudogene pseudogene Approved 6p21.31 06p21.31 2009-03-06 2022-01-26 100271009 ENSG00000218749 NG_010844 19123937 PGOHUM00000301777 HGNC:36746 +HGNC:36318 RPL36P10 ribosomal protein L36 pseudogene 10 pseudogene pseudogene Approved 6p12.3 06p12.3 2009-03-06 2022-01-26 100271011 ENSG00000226541 NG_010851 19123937 PGOHUM00000301805 HGNC:36318 +HGNC:36271 RPL36P11 ribosomal protein L36 pseudogene 11 pseudogene pseudogene Approved 5q31.3 05q31.3 2009-03-06 2022-01-26 642531 ENSG00000240518 NG_011386 19123937 PGOHUM00000301137 HGNC:36271 +HGNC:35590 RPL36P12 ribosomal protein L36 pseudogene 12 pseudogene pseudogene Approved 7q22.3 07q22.3 2009-03-06 2022-01-26 100271012 ENSG00000213361 NG_010855 19123937 PGOHUM00000302883 HGNC:35590 +HGNC:36941 RPL36P13 ribosomal protein L36 pseudogene 13 pseudogene pseudogene Approved 7q31.1 07q31.1 2009-03-06 2022-01-26 100271013 ENSG00000236580 NG_010861 19123937 PGOHUM00000302398 HGNC:36941 +HGNC:35734 RPL36P14 ribosomal protein L36 pseudogene 14 pseudogene pseudogene Approved 9q31.3 09q31.3 2009-03-06 2022-01-26 347292 ENSG00000169253 NG_009517 19123937 PGOHUM00000304439 HGNC:35734 +HGNC:36787 RPL36P15 ribosomal protein L36 pseudogene 15 pseudogene pseudogene Approved 12q24.22 12q24.22 2009-03-06 2022-01-26 100271334 ENSG00000240100 NG_011182 19123937 PGOHUM00000291816 HGNC:36787 +HGNC:37010 RPL36P16 ribosomal protein L36 pseudogene 16 pseudogene pseudogene Approved 19q13.2 19q13.2 2009-03-06 2016-07-25 651600 ENSG00000224476 OTTHUMG00000158200 NG_000008 19123937 PGOHUM00000295373 HGNC:37010 +HGNC:35884 RPL36P17 ribosomal protein L36 pseudogene 17 pseudogene pseudogene Approved 22q12.2 22q12.2 2009-03-06 2022-01-26 100271336 ENSG00000226573 NG_011192 19123937 PGOHUM00000297515 HGNC:35884 +HGNC:36856 RPL36P18 ribosomal protein L36 pseudogene 18 pseudogene pseudogene Approved Xq23 Xq23 2009-03-06 2011-09-20 100271394 ENSG00000235656 OTTHUMG00000022231 NG_010182 19123937 PGOHUM00000241959 HGNC:36856 +HGNC:42648 RPL36P19 ribosomal protein L36 pseudogene 19 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-08-10 2011-08-10 100873855 ENSG00000232540 OTTHUMG00000016816 NG_052843 PGOHUM00000248577 HGNC:42648 +HGNC:44564 RPL36P20 ribosomal protein L36 pseudogene 20 pseudogene pseudogene Approved 3p22.1 03p22.1 2012-11-15 2012-11-15 729032 ENSG00000234270 OTTHUMG00000156199 NG_051047 PGOHUM00000238006 HGNC:44564 +HGNC:10347 RPL37 ribosomal protein L37 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 L37 60S ribosomal protein L37a "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1995-02-08 2014-11-19 6167 ENSG00000145592 OTTHUMG00000094774 uc021xxr.2 L11567 NM_000997 CCDS3934 P61927 "7545944|9582194" MGI:1914531 RGD:2321317 604181 HGNC:10347 "ENST00000274242.10|NM_000997.5" +HGNC:10348 RPL37A ribosomal protein L37a protein-coding gene gene with protein product Approved 2q35 02q35 L37A "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1993-05-14 2015-08-25 6168 ENSG00000197756 OTTHUMG00000133052 uc002vgf.4 NM_000998 CCDS2404 P61513 1437567 MGI:98068 RGD:2319947 613314 HGNC:10348 "ENST00000491306.6|NM_000998.5" +HGNC:40510 RPL37A-DT RPL37A divergent transcript non-coding RNA RNA, long non-coding Approved 2q35 02q35 Divergent transcripts 1990 2020-03-19 2020-03-19 100507554 ENSG00000232485 OTTHUMG00000154850 XR_923867 +HGNC:16548 RPL37AP1 ribosomal protein L37a pseudogene 1 pseudogene pseudogene Approved 20q13.12 20q13.12 dJ1013A22.4 2009-03-01 2016-07-25 140717 ENSG00000226243 OTTHUMG00000032532 AL132772 NG_000988 19123937 PGOHUM00000297002 HGNC:16548 +HGNC:36880 RPL37AP2 ribosomal protein L37a pseudogene 2 pseudogene pseudogene Approved 4q12 04q12 2009-03-06 2009-03-11 100271337 NG_011201 19123937 HGNC:36880 +HGNC:36222 RPL37AP3 ribosomal protein L37a pseudogene 3 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2009-03-11 100132988 NG_010643 19123937 HGNC:36222 +HGNC:35586 RPL37AP4 ribosomal protein L37a pseudogene 4 pseudogene pseudogene Approved 6q26 06q26 2009-03-06 2009-03-11 100271338 NG_011210 19123937 HGNC:35586 +HGNC:36977 RPL37AP5 ribosomal protein L37a pseudogene 5 pseudogene pseudogene Approved 7q34 07q34 2009-03-06 2009-03-11 100129856 NG_010341 19123937 HGNC:36977 +HGNC:36824 RPL37AP6 ribosomal protein L37a pseudogene 6 pseudogene pseudogene Approved 7q22-q31 07q22-q31 2009-03-06 2009-03-11 100271339 NG_011215 19123937 HGNC:36824 +HGNC:35888 RPL37AP7 ribosomal protein L37a pseudogene 7 pseudogene pseudogene Approved 11p14.1 11p14.1 2009-03-06 2009-03-11 100131730 NG_010768 19123937 HGNC:35888 +HGNC:35645 RPL37AP8 ribosomal protein L37a pseudogene 8 pseudogene pseudogene Approved 11q23.1 11q23.1 2009-03-06 2014-11-19 644338 ENSG00000176343 OTTHUMG00000158458 NG_011253 A6NKH3 19123937 HGNC:35645 +HGNC:36835 RPL37AP9 ribosomal protein L37a pseudogene 9 pseudogene pseudogene Approved 12p13.1 12p13.1 2009-03-06 2009-03-11 100271606 NG_011276 19123937 HGNC:36835 +HGNC:16337 RPL37P1 ribosomal protein L37 pseudogene 1 pseudogene pseudogene Approved 20q11.22 20q11.22 bA563A22B.2 2009-03-01 2016-07-25 140696 ENSG00000227401 OTTHUMG00000032347 AL389875 NG_000982 19123937 PGOHUM00000297112 HGNC:16337 +HGNC:17092 RPL37P2 ribosomal protein L37 pseudogene 2 pseudogene pseudogene Approved 11q13.2 11q13.2 PSANK1 2009-03-01 2017-10-30 116730 ENSG00000239559 OTTHUMG00000158400 U56856 NG_001301 19123937 PGOHUM00000290566 HGNC:17092 +HGNC:17238 RPL37P3 ribosomal protein L37 pseudogene 3 pseudogene pseudogene Approved 21q21.1 21q21.1 RL37P 2009-03-01 2014-11-18 378818 ENSG00000215369 OTTHUMG00000074505 NG_005972 19123937 PGOHUM00000239043 HGNC:17238 +HGNC:17239 RPL37P4 ribosomal protein L37 pseudogene 4 pseudogene pseudogene Approved 21q21.1 21q21.1 RL37P2 2009-03-01 2014-11-18 378819 ENSG00000230198 OTTHUMG00000074608 NG_005973 19123937 PGOHUM00000239150 HGNC:17239 +HGNC:23549 RPL37P5 ribosomal protein L37 pseudogene 5 pseudogene pseudogene Approved 14q23.1 14q23.1 2009-03-01 2014-11-19 654369 AL049874 NG_005974 19123937 HGNC:23549 +HGNC:31080 RPL37P6 ribosomal protein L37 pseudogene 6 pseudogene pseudogene Approved 8q12.1 08q12.1 2009-03-01 2014-11-18 346950 ENSG00000241431 OTTHUMG00000158614 NG_005971 19123937 PGOHUM00000249671 HGNC:31080 +HGNC:36499 RPL37P7 ribosomal protein L37 pseudogene 7 pseudogene pseudogene Approved 1p32.3 01p32.3 2009-03-06 2009-03-11 100270890 NG_010225 19123937 HGNC:36499 +HGNC:36279 RPL37P8 ribosomal protein L37 pseudogene 8 pseudogene pseudogene Approved 1q44 01q44 2009-03-06 2009-03-11 100271014 NG_010864 19123937 HGNC:36279 +HGNC:35688 RPL37P9 ribosomal protein L37 pseudogene 9 pseudogene pseudogene Approved 1p36.31-p36.23 01p36.31-p36.23 2009-03-06 2009-03-11 100270828 NG_011217 19123937 HGNC:35688 +HGNC:36951 RPL37P10 ribosomal protein L37 pseudogene 10 pseudogene pseudogene Approved 2p11.2 02p11.2 2009-03-06 2013-09-23 100271015 ENSG00000224627 OTTHUMG00000152971 NG_010869 19123937 PGOHUM00000240700 HGNC:36951 +HGNC:36459 RPL37P11 ribosomal protein L37 pseudogene 11 pseudogene pseudogene Approved 2p23.3 02p23.3 2009-03-06 2019-12-19 100271016 ENSG00000225024 NG_010873 19123937 HGNC:36459 +HGNC:36989 RPL37P12 ribosomal protein L37 pseudogene 12 pseudogene pseudogene Approved 2q13 02q13 2009-03-06 2020-01-08 100271017 ENSG00000237916 NG_010879 19123937 HGNC:36989 +HGNC:36255 RPL37P13 ribosomal protein L37 pseudogene 13 pseudogene pseudogene Approved 2p15 02p15 2009-03-06 2020-01-08 100271018 ENSG00000233702 NG_010885 19123937 HGNC:36255 +HGNC:36871 RPL37P14 ribosomal protein L37 pseudogene 14 pseudogene pseudogene Approved 4p13-p12 04p13-p12 2009-03-06 2009-03-11 100271019 NG_010890 19123937 HGNC:36871 +HGNC:36659 RPL37P15 ribosomal protein L37 pseudogene 15 pseudogene pseudogene Approved 6q13 06q13 2009-03-06 2017-10-30 100271020 ENSG00000216365 OTTHUMG00000014986 NG_010894 19123937 PGOHUM00000301422 HGNC:36659 +HGNC:35949 RPL37P16 ribosomal protein L37 pseudogene 16 pseudogene pseudogene Approved 7q32.1 07q32.1 2009-03-06 2009-03-11 100271021 NG_010897 19123937 HGNC:35949 +HGNC:36023 RPL37P17 ribosomal protein L37 pseudogene 17 pseudogene pseudogene Approved 9q34 09q34 2009-03-06 2009-03-11 100271202 NG_010508 19123937 HGNC:36023 +HGNC:35919 RPL37P18 ribosomal protein L37 pseudogene 18 pseudogene pseudogene Approved 10p11.21 10p11.21 2009-03-06 2016-08-17 100271342 ENSG00000229235 OTTHUMG00000017945 NG_011234 19123937 PGOHUM00000289791 HGNC:35919 +HGNC:35576 RPL37P19 ribosomal protein L37 pseudogene 19 pseudogene pseudogene Approved 12q13.1 12q13.1 2009-03-06 2009-03-11 100271515 NG_010817 19123937 HGNC:35576 +HGNC:36562 RPL37P20 ribosomal protein L37 pseudogene 20 pseudogene pseudogene Approved 12p13 12p13 2009-03-06 2009-03-11 100271340 NG_011219 19123937 HGNC:36562 +HGNC:36256 RPL37P21 ribosomal protein L37 pseudogene 21 pseudogene pseudogene Approved 13q21.33 13q21.33 2009-03-06 2010-11-29 100271516 ENSG00000236433 OTTHUMG00000017047 NG_010821 19123937 PGOHUM00000248427 HGNC:36256 +HGNC:37019 RPL37P22 ribosomal protein L37 pseudogene 22 pseudogene pseudogene Approved 17q12 17q12 2009-03-06 2009-03-11 100271341 NG_011228 19123937 HGNC:37019 +HGNC:37003 RPL37P23 ribosomal protein L37 pseudogene 23 pseudogene pseudogene Approved 19q13.41 19q13.41 2009-03-06 2016-07-25 648217 ENSG00000243680 OTTHUMG00000158220 NG_010124 19123937 PGOHUM00000295420 HGNC:37003 +HGNC:36201 RPL37P24 ribosomal protein L37 pseudogene 24 pseudogene pseudogene Approved Xp11.22 Xp11.22 2009-03-06 2020-05-07 100271395 ENSG00000224949 NG_010186 19123937 HGNC:36201 +HGNC:49020 RPL37P25 ribosomal protein L37 pseudogene 25 pseudogene pseudogene Approved 5q11.2 05q11.2 2013-08-08 2013-08-08 106481666 ENSG00000251597 OTTHUMG00000162288 NG_045247 PGOHUM00000235589 HGNC:49020 +HGNC:10349 RPL38 ribosomal protein L38 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 L38 L ribosomal proteins 729 1998-07-28 2015-08-25 6169 ENSG00000172809 OTTHUMG00000166016 uc002jjz.4 AB007185 NM_000999 CCDS11696 P63173 9582194 MGI:1914921 RGD:1305573 604182 HGNC:10349 "ENST00000311111.11|NM_000999.4" +HGNC:17093 RPL38P1 RPL38 pseudogene 1 pseudogene pseudogene Approved 3q24 03q24 ribosomal protein L38 pseudogene 1 2009-03-01 2019-10-16 2019-10-16 116809 ENSG00000241993 OTTHUMG00000157394 S70431 NG_000963 "9375793|19123937" PGOHUM00000237808 HGNC:17093 +HGNC:36620 RPL38P2 RPL38 pseudogene 2 pseudogene pseudogene Approved 2p12 02p12 ribosomal protein L38 pseudogene 2 2009-03-06 2019-10-16 2019-10-16 100129991 ENSG00000237077 NG_011032 19123937 PGOHUM00000240693 HGNC:36620 +HGNC:35980 RPL38P3 RPL38 pseudogene 3 pseudogene pseudogene Approved 4q12 04q12 ribosomal protein L38 pseudogene 3 2009-03-06 2019-10-16 2019-10-16 100132311 ENSG00000244422 OTTHUMG00000157473 NG_011115 19123937 PGOHUM00000245535 HGNC:35980 +HGNC:48867 RPL38P4 RPL38 pseudogene 4 pseudogene pseudogene Approved 3q11.2 03q11.2 ribosomal protein L38 pseudogene 4 2013-06-19 2019-10-16 2019-10-16 100130963 ENSG00000250562 OTTHUMG00000160020 NG_015994 PGOHUM00000237691 HGNC:48867 +HGNC:54607 RPL38P5 RPL38 pseudogene 5 pseudogene pseudogene Approved 2q33.1 02q33.1 2019-10-16 2021-09-29 100130026 ENSG00000235579 NG_011212 +HGNC:54608 RPL38P6 RPL38 pseudogene 6 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-10-16 2019-10-16 107985813 ENSG00000224291 +HGNC:10350 RPL39 ribosomal protein L39 protein-coding gene gene with protein product Approved Xq24 Xq24 L39 RPL39P42 ribosomal protein L39 pseudogene 42 "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1997-10-08 2020-04-02 6170 ENSG00000198918 OTTHUMG00000022278 uc004erx.3 NM_001000 CCDS14586 P62891 8764829 MGI:1914498 RGD:3593 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPL39 300899 HGNC:10350 "ENST00000361575.4|NM_001000.4" +HGNC:17094 RPL39L ribosomal protein L39 like protein-coding gene gene with protein product Approved 3q27.3 03q27.3 RPL39L1 "ribosomal protein L39-like 1|ribosomal protein L39-like" L ribosomal proteins 729 2001-10-24 2002-01-18 2015-11-17 2015-11-17 116832 ENSG00000163923 OTTHUMG00000156465 uc062rgo.1 BC012328 NM_052969 CCDS3286 Q96EH5 MGI:1915422 RGD:1561345 607547 HGNC:17094 "ENST00000296277.9|NM_052969.3" +HGNC:16558 RPL39P ribosomal protein L39 pseudogene pseudogene pseudogene Approved 20q13.31 20q13.31 dJ1167H4.5 2009-03-01 2017-10-30 140719 ENSG00000228601 OTTHUMG00000032789 NG_000990 19123937 HGNC:16558 +HGNC:19774 RPL39P2 ribosomal protein L39 pseudogene 2 pseudogene pseudogene Approved 14q11.2 14q11.2 2009-03-01 2014-11-18 326306 NG_002558 19123937 HGNC:19774 +HGNC:21383 RPL39P3 ribosomal protein L39 pseudogene 3 pseudogene pseudogene Approved 6q13 06q13 Em:AC019205.3 2009-03-01 2017-10-30 285785 ENSG00000235174 OTTHUMG00000015023 NG_003156 19123937 HGNC:21383 +HGNC:31327 RPL39P4 ribosomal protein L39 pseudogene 4 pseudogene pseudogene Approved 17q21.1 17q21.1 2009-03-01 2014-11-19 654392 AC090844 NG_009535 19123937 HGNC:31327 +HGNC:26015 RPL39P5 ribosomal protein L39 pseudogene 5 pseudogene pseudogene Approved 3q22.2 03q22.2 2009-03-01 2016-10-05 553117 ENSG00000214289 OTTHUMG00000157377 AC010207 NG_010827 Q59GN2 19123937 HGNC:26015 +HGNC:35803 RPL39P6 ribosomal protein L39 pseudogene 6 pseudogene pseudogene Approved 1p36.22 01p36.22 2009-03-06 2012-10-16 100270891 ENSG00000238173 OTTHUMG00000002000 NG_010231 19123937 PGOHUM00000261305 HGNC:35803 +HGNC:36651 RPL39P7 ribosomal protein L39 pseudogene 7 pseudogene pseudogene Approved 1p36.11 01p36.11 2009-03-06 2009-03-11 100270892 NG_010238 19123937 HGNC:36651 +HGNC:36329 RPL39P8 ribosomal protein L39 pseudogene 8 pseudogene pseudogene Approved 1p13.2 01p13.2 2009-03-06 2009-03-11 100270893 NG_010241 19123937 HGNC:36329 +HGNC:35580 RPL39P9 ribosomal protein L39 pseudogene 9 pseudogene pseudogene Approved 1p21 01p21 2009-03-06 2009-03-11 100270894 NG_010246 19123937 HGNC:35580 +HGNC:35745 RPL39P10 ribosomal protein L39 pseudogene 10 pseudogene pseudogene Approved 1q43 01q43 2009-03-06 2009-03-11 100129952 NG_010843 19123937 HGNC:35745 +HGNC:36798 RPL39P11 ribosomal protein L39 pseudogene 11 pseudogene pseudogene Approved 1q25 01q25 2009-03-06 2009-03-11 100271022 NG_010901 19123937 HGNC:36798 +HGNC:36166 RPL39P12 ribosomal protein L39 pseudogene 12 pseudogene pseudogene Approved 1p36.33 01p36.33 2009-03-06 2009-03-11 100270829 NG_011226 19123937 HGNC:36166 +HGNC:36705 RPL39P13 ribosomal protein L39 pseudogene 13 pseudogene pseudogene Approved 1p22.2 01p22.2 2009-03-06 2009-03-11 100130802 NG_011255 19123937 HGNC:36705 +HGNC:36609 RPL39P14 ribosomal protein L39 pseudogene 14 pseudogene pseudogene Approved 2q33.1 02q33.1 2009-03-06 2019-10-16 100132127 ENSG00000224463 NG_010167 19123937 HGNC:36609 +HGNC:35856 RPL39P15 ribosomal protein L39 pseudogene 15 pseudogene pseudogene Approved 2p14 02p14 2009-03-06 2019-12-19 647236 ENSG00000231414 NG_009585 19123937 HGNC:35856 +HGNC:35912 RPL39P16 ribosomal protein L39 pseudogene 16 pseudogene pseudogene Approved 2q13 02q13 2009-03-06 2020-01-08 100271023 ENSG00000227470 NG_010908 19123937 HGNC:35912 +HGNC:35545 RPL39P17 ribosomal protein L39 pseudogene 17 pseudogene pseudogene Approved 3p25.1 03p25.1 2009-03-06 2009-03-11 100271024 NG_010914 19123937 HGNC:35545 +HGNC:36111 RPL39P18 ribosomal protein L39 pseudogene 18 pseudogene pseudogene Approved 3p24.3 03p24.3 2009-03-06 2017-10-30 100271025 ENSG00000229468 OTTHUMG00000155391 NG_010919 19123937 PGOHUM00000299363 HGNC:36111 +HGNC:36346 RPL39P19 ribosomal protein L39 pseudogene 19 pseudogene pseudogene Approved 3q27 03q27 2009-03-06 2009-03-11 100271027 NG_010926 19123937 HGNC:36346 +HGNC:36366 RPL39P20 ribosomal protein L39 pseudogene 20 pseudogene pseudogene Approved 5q14.1 05q14.1 2009-03-06 2009-03-11 100131160 NG_010462 19123937 HGNC:36366 +HGNC:36218 RPL39P21 ribosomal protein L39 pseudogene 21 pseudogene pseudogene Approved 5q13.3 05q13.3 2009-03-06 2009-03-11 644499 NG_010774 19123937 HGNC:36218 +HGNC:36072 RPL39P22 ribosomal protein L39 pseudogene 22 pseudogene pseudogene Approved 5p13 05p13 2009-03-06 2009-03-11 100271028 NG_010931 19123937 HGNC:36072 +HGNC:36581 RPL39P23 ribosomal protein L39 pseudogene 23 pseudogene pseudogene Approved 7p12-p11.2 07p12-p11.2 2009-03-06 2009-03-11 100271203 NG_010511 19123937 HGNC:36581 +HGNC:36431 RPL39P24 ribosomal protein L39 pseudogene 24 pseudogene pseudogene Approved 9q34.13 09q34.13 2009-03-06 2009-03-11 100271396 NG_010191 19123937 HGNC:36431 +HGNC:37002 RPL39P25 ribosomal protein L39 pseudogene 25 pseudogene pseudogene Approved 10q22.2 10q22.2 2009-03-06 2016-08-17 100271517 ENSG00000227271 OTTHUMG00000018520 NG_010826 19123937 PGOHUM00000289910 HGNC:37002 +HGNC:35900 RPL39P26 ribosomal protein L39 pseudogene 26 pseudogene pseudogene Approved 11p15.3 11p15.3 2009-03-06 2017-10-30 100271518 ENSG00000240454 OTTHUMG00000158307 NG_010831 19123937 PGOHUM00000290400 HGNC:35900 +HGNC:36114 RPL39P27 ribosomal protein L39 pseudogene 27 pseudogene pseudogene Approved 12p12.1 12p12.1 2009-03-06 2009-03-11 100133222 NG_010530 19123937 HGNC:36114 +HGNC:35619 RPL39P28 ribosomal protein L39 pseudogene 28 pseudogene pseudogene Approved 12q15 12q15 2009-03-06 2012-05-02 100271520 ENSG00000244432 OTTHUMG00000157610 NG_010840 19123937 PGOHUM00000239510 HGNC:35619 +HGNC:35808 RPL39P29 ribosomal protein L39 pseudogene 29 pseudogene pseudogene Approved 13q33.1 13q33.1 2009-03-06 2016-10-05 100271522 ENSG00000236860 OTTHUMG00000017300 NG_010848 19123937 PGOHUM00000248489 HGNC:35808 +HGNC:36979 RPL39P30 ribosomal protein L39 pseudogene 30 pseudogene pseudogene Approved 16q24.2 16q24.2 2009-03-06 2009-03-11 100271519 NG_010837 19123937 HGNC:36979 +HGNC:36488 RPL39P31 ribosomal protein L39 pseudogene 31 pseudogene pseudogene Approved 16q22.2 16q22.2 2009-03-06 2017-10-30 100271525 ENSG00000242176 OTTHUMG00000158246 NG_010862 19123937 PGOHUM00000293652 HGNC:36488 +HGNC:36959 RPL39P32 ribosomal protein L39 pseudogene 32 pseudogene pseudogene Approved 17q12 17q12 2009-03-06 2009-03-11 100131387 NG_010314 19123937 HGNC:36959 +HGNC:36315 RPL39P33 ribosomal protein L39 pseudogene 33 pseudogene pseudogene Approved 17q22 17q22 2009-03-06 2017-10-30 100271521 ENSG00000243058 OTTHUMG00000157882 NG_010845 19123937 PGOHUM00000294483 HGNC:36315 +HGNC:36528 RPL39P34 ribosomal protein L39 pseudogene 34 pseudogene pseudogene Approved 19q13.41 19q13.41 2009-03-06 2014-03-20 100271523 ENSG00000242255 OTTHUMG00000158225 NG_010853 19123937 HGNC:36528 +HGNC:35815 RPL39P35 ribosomal protein L39 pseudogene 35 pseudogene pseudogene Approved 19q13.41 19q13.41 2009-03-06 2009-03-11 100271524 NG_010856 19123937 HGNC:35815 +HGNC:36076 RPL39P36 ribosomal protein L39 pseudogene 36 pseudogene pseudogene Approved 19q13.42 19q13.42 2009-03-06 2016-07-25 100271526 ENSG00000239912 OTTHUMG00000158291 NG_010865 19123937 HGNC:36076 +HGNC:36282 RPL39P37 ribosomal protein L39 pseudogene 37 pseudogene pseudogene Approved 19q13.41 19q13.41 2009-03-06 2009-03-11 100271528 NG_010875 19123937 HGNC:36282 +HGNC:36935 RPL39P38 ribosomal protein L39 pseudogene 38 pseudogene pseudogene Approved 19p13.11 19p13.11 2009-03-06 2016-07-25 100271529 ENSG00000241464 OTTHUMG00000158045 NG_010881 19123937 PGOHUM00000294907 HGNC:36935 +HGNC:36514 RPL39P39 ribosomal protein L39 pseudogene 39 pseudogene pseudogene Approved 20q13.31 20q13.31 2009-03-06 2016-07-25 100271530 ENSG00000231005 OTTHUMG00000032815 NG_010887 19123937 PGOHUM00000297148 HGNC:36514 +HGNC:35823 RPL39P40 ribosomal protein L39 pseudogene 40 pseudogene pseudogene Approved 21q21.1 21q21.1 2009-03-06 2012-10-16 100271531 ENSG00000226580 OTTHUMG00000074503 NG_010891 19123937 PGOHUM00000261328 HGNC:35823 +HGNC:35941 RPL39P41 ribosomal protein L39 pseudogene 41 pseudogene pseudogene Approved 22q13.1 22q13.1 2009-03-06 2009-03-11 100271532 NG_010896 19123937 HGNC:35941 +HGNC:10354 RPL41 ribosomal protein L41 protein-coding gene gene with protein product Approved 12q13 12q13 L41 L ribosomal proteins 729 1993-01-19 2011-04-06 6171 ENSG00000229117 OTTHUMG00000170183 uc001sjo.4 AB007186 NM_001035267 CCDS44919 P62945 "1326959|9582194" MGI:1915195 RGD:621210 613315 HGNC:10354 "ENST00000546591.6|NM_001035267.2" +HGNC:10356 RPL41P1 ribosomal protein L41 pseudogene 1 pseudogene pseudogene Approved 20p11.22 20p11.22 RPL41L2 ribosomal protein L41-like 2 1999-09-29 2009-03-02 2016-10-05 22971 ENSG00000227063 OTTHUMG00000032033 AL035562 NG_000891 HGNC:10356 +HGNC:10357 RPL41P2 ribosomal protein L41 pseudogene 2 pseudogene pseudogene Approved 15q11-q13 15q11-q13 1999-09-29 2009-03-02 2012-11-05 22970 ENSG00000256338 OTTHUMG00000186844 NG_000890 HGNC:10357 +HGNC:10358 RPL41P3 ribosomal protein L41 pseudogene 3 pseudogene pseudogene Approved 22q13.1 22q13.1 1999-09-29 2009-03-02 2009-03-02 22969 NG_000889 HGNC:10358 +HGNC:19788 RPL41P4 ribosomal protein L41 pseudogene 4 pseudogene pseudogene Approved 14q24.3 14q24.3 2003-01-13 2013-09-23 326308 NG_002560 HGNC:19788 +HGNC:10355 RPL41P5 ribosomal protein L41 pseudogene 5 pseudogene pseudogene Approved 12q22 12q22 RPL41L ribosomal protein L41-like 1994-02-23 2008-07-22 2008-07-22 2017-10-30 6172 ENSG00000256393 OTTHUMG00000186889 S64030 NG_008264 8332507 HGNC:10355 +HGNC:37655 RPL41P6 ribosomal protein L41 pseudogene 6 pseudogene pseudogene Approved Yq11.23 Yq11.23 2009-12-16 2011-01-17 286568 NG_004755 HGNC:37655 +HGNC:37656 RPL41P7 ribosomal protein L41 pseudogene 7 pseudogene pseudogene Approved Yq11.23 Yq11.23 2009-12-16 2010-10-07 286570 NG_004755 HGNC:37656 +HGNC:10371 RPLP0 ribosomal protein lateral stalk subunit P0 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "PRLP0|P0|L10E|RPP0|LP0" neutral ribosomal phosphoprotein P0 ribosomal protein, large, P0 L ribosomal proteins 729 1993-12-16 2016-03-03 2016-10-05 6175 ENSG00000089157 OTTHUMG00000169317 uc001txq.4 AB007187 NM_053275 CCDS9193 P05388 9582194 MGI:1927636 RGD:621247 180510 HGNC:10371 "ENST00000392514.9|NM_001002.4" +HGNC:10372 RPLP1 ribosomal protein lateral stalk subunit P1 protein-coding gene gene with protein product Approved 15q23 15q23 LP1 ribosomal protein, large, P1 L ribosomal proteins 729 1993-12-16 2016-03-03 2016-03-03 6176 ENSG00000137818 OTTHUMG00000172087 uc002asd.2 NM_001003 "CCDS10234|CCDS10233" P05386 MGI:1927099 RGD:621774 180520 HGNC:10372 "ENST00000260379.11|NM_001003.3" +HGNC:19793 RPLP1P1 ribosomal protein lateral stalk subunit P1 pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 ribosomal protein, large, P1 pseudogene 1 2009-03-01 2016-03-03 2016-03-03 145499 NG_002526 19123937 HGNC:19793 +HGNC:36210 RPLP1P2 ribosomal protein lateral stalk subunit P1 pseudogene 2 pseudogene pseudogene Approved 1q43 01q43 ribosomal protein, large, P1 pseudogene 2 2009-03-06 2016-03-03 2016-03-03 729138 NG_006638 19123937 HGNC:36210 +HGNC:36870 RPLP1P3 ribosomal protein lateral stalk subunit P1 pseudogene 3 pseudogene pseudogene Approved 1q24.3 01q24.3 ribosomal protein, large, P1 pseudogene 3 2009-03-06 2016-03-03 2016-03-03 127099 NG_010637 19123937 HGNC:36870 +HGNC:36939 RPLP1P4 ribosomal protein lateral stalk subunit P1 pseudogene 4 pseudogene pseudogene Approved 2q31.1 02q31.1 ribosomal protein, large, P1 pseudogene 4 2009-03-06 2016-03-03 2016-03-03 100129028 NG_009587 19123937 HGNC:36939 +HGNC:35842 RPLP1P5 ribosomal protein lateral stalk subunit P1 pseudogene 5 pseudogene pseudogene Approved 2p24.3 02p24.3 ribosomal protein, large, P1 pseudogene 5 2009-03-06 2016-03-03 2020-01-08 130678 ENSG00000214657 NG_010614 19123937 HGNC:35842 +HGNC:35809 RPLP1P6 ribosomal protein lateral stalk subunit P1 pseudogene 6 pseudogene pseudogene Approved 5q33.1 05q33.1 ribosomal protein, large, P1 pseudogene 6 2009-03-06 2016-03-03 2017-10-30 729416 ENSG00000213433 OTTHUMG00000157909 NG_005982 19123937 PGOHUM00000300793 HGNC:35809 +HGNC:36156 RPLP1P7 ribosomal protein lateral stalk subunit P1 pseudogene 7 pseudogene pseudogene Approved 5q23.2 05q23.2 ribosomal protein, large, P1 pseudogene 7 2009-03-06 2016-03-03 2016-03-03 133609 NG_006940 19123937 HGNC:36156 +HGNC:36104 RPLP1P8 ribosomal protein lateral stalk subunit P1 pseudogene 8 pseudogene pseudogene Approved 6q23.3 06q23.3 ribosomal protein, large, P1 pseudogene 8 2009-03-06 2016-03-03 2016-03-03 100128745 NG_011205 19123937 HGNC:36104 +HGNC:36069 RPLP1P9 ribosomal protein lateral stalk subunit P1 pseudogene 9 pseudogene pseudogene Approved 8p21-p11.2 08p21-p11.2 ribosomal protein, large, P1 pseudogene 9 2009-03-06 2016-03-03 2016-03-03 100271049 NG_011038 19123937 HGNC:36069 +HGNC:35509 RPLP1P10 ribosomal protein lateral stalk subunit P1 pseudogene 10 pseudogene pseudogene Approved 10q21.1 10q21.1 ribosomal protein, large, P1 pseudogene 10 2009-03-06 2016-03-03 2016-08-17 100271346 ENSG00000226888 OTTHUMG00000018275 NG_011249 19123937 PGOHUM00000289870 HGNC:35509 +HGNC:36196 RPLP1P11 ribosomal protein lateral stalk subunit P1 pseudogene 11 pseudogene pseudogene Approved 17p12 17p12 ribosomal protein, large, P1 pseudogene 11 2009-03-06 2016-03-03 2017-10-30 100131087 ENSG00000243686 OTTHUMG00000059307 NG_010056 19123937 HGNC:36196 +HGNC:36858 RPLP1P12 ribosomal protein lateral stalk subunit P1 pseudogene 12 pseudogene pseudogene Approved 19q13.41 19q13.41 ribosomal protein, large, P1 pseudogene 12 2009-03-06 2016-03-03 2016-03-03 646566 NG_010867 19123937 HGNC:36858 +HGNC:41973 RPLP1P13 ribosomal protein lateral stalk subunit P1 pseudogene 13 pseudogene pseudogene Approved 13q12.12 13q12.12 ribosomal protein, large, P1 pseudogene 13 2011-05-24 2016-03-03 2016-03-03 100874124 ENSG00000232163 OTTHUMG00000016564 NG_032385 HGNC:41973 +HGNC:10377 RPLP2 ribosomal protein lateral stalk subunit P2 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "P2|RPP2|MGC71408|LP2" "60S acidic ribosomal protein P2|acidic ribosomal phosphoprotein P2" D11S2243E ribosomal protein, large, P2 "L ribosomal proteins|Small nucleolar RNA protein coding host genes" "729|1835" 1993-12-16 2016-03-03 2016-03-03 6181 ENSG00000177600 OTTHUMG00000133317 uc001lrq.2 M17887 NM_001004 CCDS7717 P05387 3323886 MGI:1914436 RGD:621775 180530 HGNC:10377 "ENST00000321153.9|NM_001004.4" +HGNC:18724 RPLP2P1 ribosomal protein lateral stalk subunit P2 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 dJ408B20.3 ribosomal protein, large P2, pseudogene 1 2009-03-01 2016-03-03 2017-10-30 442175 ENSG00000214374 OTTHUMG00000014498 NG_010333 19123937 PGOHUM00000301706 HGNC:18724 +HGNC:36590 RPLP2P2 ribosomal protein lateral stalk subunit P2 pseudogene 2 pseudogene pseudogene Approved 5q33.3 05q33.3 ribosomal protein, large, P2 pseudogene 2 2009-03-06 2016-03-03 2016-03-03 644198 NG_010527 19123937 HGNC:36590 +HGNC:36494 RPLP2P3 ribosomal protein lateral stalk subunit P2 pseudogene 3 pseudogene pseudogene Approved 11q22.3 11q22.3 ribosomal protein, large, P2 pseudogene 3 2009-03-06 2016-03-03 2016-03-03 643949 NG_010565 19123937 HGNC:36494 +HGNC:36837 RPLP2P4 ribosomal protein lateral stalk subunit P2 pseudogene 4 pseudogene pseudogene Approved 12p11.21 12p11.21 ribosomal protein, large, P2 pseudogene 4 2009-03-06 2016-03-03 2016-03-03 100271347 NG_011258 19123937 HGNC:36837 +HGNC:35706 RPLP2P5 ribosomal protein lateral stalk subunit P2 pseudogene 5 pseudogene pseudogene Approved 17q23.2 17q23.2 ribosomal protein, large, P2 pseudogene 5 2009-03-06 2016-03-03 2016-03-03 100271348 NG_011348 19123937 HGNC:35706 +HGNC:16585 RPLP0P1 ribosomal protein lateral stalk subunit P0 pseudogene 1 pseudogene pseudogene Approved 20p12.1 20p12.1 dJ777L9.2 ribosomal protein, large, P0 pseudogene 1 2001-09-17 2016-03-03 2016-07-25 128745 ENSG00000226229 OTTHUMG00000031929 AL049794 NG_000973 PGOHUM00000296906 HGNC:16585 +HGNC:17960 RPLP0P2 ribosomal protein lateral stalk subunit P0 pseudogene 2 pseudogene pseudogene Approved 11q12.2 11q12.2 ribosomal protein, large, P0 pseudogene 2 2009-03-01 2016-03-03 2016-03-03 113157 ENSG00000243742 OTTHUMG00000158396 BC010523 NR_002775 "19123937|25089627" HGNC:17960 +HGNC:23558 RPLP0P3 ribosomal protein lateral stalk subunit P0 pseudogene 3 pseudogene pseudogene Approved 14q13.2 14q13.2 ribosomal protein, large, P0 pseudogene 3 2009-03-01 2016-03-03 2021-10-04 122589 ENSG00000240023 AL133163 NG_009485 19123937 PGOHUM00000292323 HGNC:23558 +HGNC:36489 RPLP0P4 ribosomal protein lateral stalk subunit P0 pseudogene 4 pseudogene pseudogene Approved 1q21.3 01q21.3 ribosomal protein, large, P0 pseudogene 4 2009-03-06 2016-03-03 2021-10-04 391102 ENSG00000230779 NG_010984 19123937 PGOHUM00000296577 HGNC:36489 +HGNC:35620 RPLP0P5 ribosomal protein lateral stalk subunit P0 pseudogene 5 pseudogene pseudogene Approved 1q41 01q41 ribosomal protein, large, P0 pseudogene 5 2009-03-06 2016-03-03 2021-10-04 643779 ENSG00000232883 NG_011009 19123937 PGOHUM00000296051 HGNC:35620 +HGNC:36404 RPLP0P6 ribosomal protein lateral stalk subunit P0 pseudogene 6 pseudogene pseudogene Approved 2p22.1 02p22.1 ribosomal protein, large, P0 pseudogene 6 2009-03-06 2016-03-03 2016-03-03 220717 ENSG00000213553 OTTHUMG00000153430 NG_009952 Q8NHW5 19123937 RGD:1564469 HGNC:36404 +HGNC:36578 RPLP0P7 ribosomal protein lateral stalk subunit P0 pseudogene 7 pseudogene pseudogene Approved 2q24.1 02q24.1 ribosomal protein, large, P0 pseudogene 7 2009-03-06 2016-03-03 2016-03-03 100271047 ENSG00000238069 OTTHUMG00000153844 NG_011029 19123937 PGOHUM00000240397 HGNC:36578 +HGNC:35867 RPLP0P8 ribosomal protein lateral stalk subunit P0 pseudogene 8 pseudogene pseudogene Approved 3p14.1 03p14.1 ribosomal protein, large, P0 pseudogene 8 2009-03-06 2016-03-03 2021-10-04 100131151 ENSG00000244640 NG_010425 19123937 PGOHUM00000299052 HGNC:35867 +HGNC:55906 RPLP0P9 ribosomal protein lateral stalk subunit P0 pseudogene 9 pseudogene pseudogene Approved 5q34 05q34 2021-10-04 2021-10-04 441114 ENSG00000229119 NG_005511 PGOHUM00000301177 +HGNC:35991 RPLP0P10 ribosomal protein lateral stalk subunit P0 pseudogene 10 pseudogene pseudogene Approved 15q15.1 15q15.1 ribosomal protein, large, P0 pseudogene 10 2009-03-06 2016-03-03 2021-10-04 390578 ENSG00000244705 NG_010925 19123937 PGOHUM00000292917 HGNC:35991 +HGNC:36572 RPLP0P11 ribosomal protein lateral stalk subunit P0 pseudogene 11 pseudogene pseudogene Approved 18q21.1 18q21.1 ribosomal protein, large, P0 pseudogene 11 2009-03-06 2016-03-03 2017-10-30 647094 ENSG00000239780 OTTHUMG00000158245 NG_010949 19123937 PGOHUM00000294784 HGNC:36572 +HGNC:55907 RPLP0P12 ribosomal protein lateral stalk subunit P0 pseudogene 12 pseudogene pseudogene Approved 18q21.32 18q21.32 2021-10-04 2021-10-04 390860 ENSG00000267669 NG_022492 PGOHUM00000294800 +HGNC:10381 RPN1 ribophorin I protein-coding gene gene with protein product Approved 3q21.3 03q21.3 OST1 "oligosaccharyltransferase 1 homolog (S. cerevisiae)|oligosaccharyltransferase complex subunit (non-catalytic)" Oligosaccharyltransferase complex subunits 445 2001-06-22 2013-03-06 6184 ENSG00000163902 OTTHUMG00000159691 uc003ekr.2 NM_002950 CCDS3051 P04843 MGI:98084 RGD:3594 RPN1 180470 409866 HGNC:10381 "ENST00000296255.8|NM_002950.4" +HGNC:10382 RPN2 ribophorin II protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "SWP1|RPNII|RIBIIR|RPN-II" oligosaccharyltransferase complex subunit (non-catalytic) Oligosaccharyltransferase complex subunits 445 2001-06-22 2016-10-05 6185 ENSG00000118705 OTTHUMG00000032409 uc002xgp.4 Y00282 NM_002951 "CCDS46599|CCDS13291" P04844 MGI:98085 RGD:62075 180490 HGNC:10382 "ENST00000237530.11|NM_002951.5" +HGNC:30327 RPP14 ribonuclease P/MRP subunit p14 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 P14 "ribonuclease P 14kDa subunit|ribonuclease P/MRP 14kDa subunit" 2004-03-17 2016-04-05 2017-02-08 11102 ENSG00000163684 OTTHUMG00000159152 uc010hnh.4 AF001175 NM_007042 CCDS2888 O95059 "10024167|11929972" MGI:1914303 RGD:1305436 606112 HGNC:30327 "ENST00000295959.10|NM_007042.6" +HGNC:21300 RPP21 ribonuclease P/MRP subunit p21 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "FLJ22638|Em:AB014085.3" C6orf135 "chromosome 6 open reading frame 135|ribonuclease P 21kDa subunit|ribonuclease P/MRP 21kDa subunit" 2003-06-02 2004-03-19 2016-04-05 2016-10-05 79897 ENSG00000241370 OTTHUMG00000031220 uc021zot.2 AK026291 NM_024839 "CCDS56409|CCDS56410|CCDS4679" Q9H633 MGI:1914926 RGD:1303090 612524 HGNC:21300 "ENST00000442966.7|NM_024839.4" +HGNC:30361 RPP25 ribonuclease P and MRP subunit p25 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 FLJ20374 RNase P protein subunit p25 "ribonuclease P 25kDa subunit|ribonuclease P/MRP 25kDa subunit|ribonuclease P/MRP subunit p25" 2004-03-17 2017-01-19 2017-01-19 54913 ENSG00000178718 OTTHUMG00000142822 uc002azj.2 AY034074 NM_017793 CCDS10274 Q9BUL9 12003489 MGI:2143151 RGD:1305290 619235 HGNC:30361 "ENST00000322177.6|NM_017793.3" +HGNC:19909 RPP25L ribonuclease P/MRP subunit p25 like protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "bA296L22.5|MGC29635" C9orf23 "chromosome 9 open reading frame 23|ribonuclease P/MRP 25kDa subunit-like" 2002-12-03 2012-03-06 2016-04-05 2016-10-05 138716 ENSG00000164967 OTTHUMG00000000443 uc003zuv.4 BC032136 NM_148179 CCDS6559 Q8N5L8 16998185 MGI:1917211 RGD:1306576 HGNC:19909 "ENST00000378959.9|NM_148178.3" +HGNC:17688 RPP30 ribonuclease P/MRP subunit p30 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 TSG15 ribonuclease P protein subunit p30 ribonuclease P/MRP 30kDa subunit 2004-03-17 2016-04-05 2016-10-05 10556 ENSG00000148688 OTTHUMG00000018733 uc009xtx.4 BC006991 NM_006413 "CCDS44458|CCDS7411" P78346 "9037013|9308968" MGI:1859683 RGD:1595116 606115 HGNC:17688 "ENST00000371703.8|NM_006413.5" +HGNC:30329 RPP38 ribonuclease P/MRP subunit p38 protein-coding gene gene with protein product Approved 10p13 10p13 ribonuclease P/MRP 38kDa subunit 2004-03-17 2016-04-05 2016-04-05 10557 ENSG00000152464 OTTHUMG00000017728 uc031pth.2 U77664 NM_006414 CCDS7108 P78345 "9037013|9630247" MGI:2443607 RGD:1307474 606116 HGNC:30329 "ENST00000378197.5|NM_183005.5" +HGNC:28582 RPP38-DT RPP38 divergent transcript non-coding RNA RNA, long non-coding Approved 10p13 10p13 "MGC35468|bA455B2.4" C10orf111 chromosome 10 open reading frame 111 Divergent transcripts 1990 2004-04-20 2019-03-01 2019-03-01 2019-03-01 221060 ENSG00000176236 OTTHUMG00000017727 uc001inw.4 BC029034 NR_160789 Q8N326 12477932 HGNC:28582 +HGNC:20992 RPP40 ribonuclease P/MRP subunit p40 protein-coding gene gene with protein product Approved 6p25.1 06p25.1 bA428J1.3 RNASEP1 "ribonuclease P1|ribonuclease P 40kDa subunit|ribonuclease P/MRP 40kDa subunit" 2003-04-30 2004-03-19 2016-04-05 2016-04-05 10799 ENSG00000124787 OTTHUMG00000014168 uc003mwl.5 U94317 NM_006638 "CCDS69040|CCDS75391|CCDS34333" O75818 9630247 MGI:1346084 RGD:1310228 606117 HGNC:20992 "ENST00000380051.7|NM_006638.4" +HGNC:39769 RPP40P1 ribonuclease P/MRP subunit p40 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 ribonuclease P/MRP 40kDa subunit pseudogene 1 2011-03-29 2016-04-05 2016-04-05 100874225 ENSG00000229310 OTTHUMG00000021279 NG_032356 PGOHUM00000241214 HGNC:39769 +HGNC:39770 RPP40P2 ribonuclease P/MRP subunit p40 pseudogene 2 pseudogene pseudogene Approved 13q21.2 13q21.2 ribonuclease P/MRP 40kDa subunit pseudogene 2 2011-03-29 2016-04-05 2016-04-05 100420608 ENSG00000271190 OTTHUMG00000184864 NG_024931 PGOHUM00000258725 HGNC:39770 +HGNC:19273 RPPH1 ribonuclease P RNA component H1 non-coding RNA RNA, misc Approved 14q11.2 14q11.2 "H1RNA|RPPH1-1" 2004-03-17 2015-01-30 85495 ENSG00000277209 OTTHUMG00000170789 uc001vxa.2 X15624 NR_002312 "7916700|2470644" MGI:1934664 RGD:3580 608513 HGNC:19273 +HGNC:47029 RPPH1-2P ribonuclease P RNA component H1, 2 pseudogene pseudogene pseudogene Approved 14q23.3 14q23.3 2013-04-03 2013-04-03 106481202 ENSG00000252497 uc021ruo.1 NG_043330 HGNC:47029 +HGNC:47030 RPPH1-3P ribonuclease P RNA component H1, 3 pseudogene pseudogene pseudogene Approved 4q32.1 04q32.1 2013-04-03 2013-04-03 106479602 ENSG00000252350 uc063ant.1 NG_044828 HGNC:47030 +HGNC:25560 RPRD1A regulation of nuclear pre-mRNA domain containing 1A protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "P15RS|FLJ10656|HsT3101" "cyclin-dependent kinase 2B-inhibitor-related protein|Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)" 2008-07-28 2008-08-15 2014-11-19 55197 ENSG00000141425 OTTHUMG00000132591 uc002kzg.4 AF419845 NM_018170 "CCDS11917|CCDS77178" Q96P16 "12470661|22231121" MGI:2385066 RGD:1307374 610347 HGNC:25560 "ENST00000399022.9|NM_018170.5" +HGNC:16209 RPRD1B regulation of nuclear pre-mRNA domain containing 1B protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "dJ1057B20.2|DKFZp434P0735|CREPT|FLJ44520|NET60|Kub5-Hera|K-H" "cell-cycle related and expression-elevated protein in tumor|Ku70-binding protein 5-Hera" C20orf77 chromosome 20 open reading frame 77 2001-07-17 2008-07-28 2008-08-15 2017-05-22 58490 ENSG00000101413 OTTHUMG00000032434 uc002xho.5 AL109823 NM_021215 CCDS13301 Q9NQG5 22231121 MGI:1917720 RGD:1304782 614694 HGNC:16209 "ENST00000373433.9|NM_021215.4" +HGNC:29039 RPRD2 regulation of nuclear pre-mRNA domain containing 2 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "FLJ32145|HSPC099" KIAA0460 KIAA0460 2005-05-17 2008-07-28 2008-08-15 2014-11-19 23248 ENSG00000163125 OTTHUMG00000012808 uc009wlr.4 BX641025 NM_015203 "CCDS44216|CCDS72907" Q5VT52 22231121 MGI:1922387 RGD:2320792 614695 HGNC:29039 "ENST00000369068.5|NM_015203.5" +HGNC:24201 RPRM reprimo, TP53 dependent G2 arrest mediator homolog protein-coding gene gene with protein product Approved 2q23.3 02q23.3 "FLJ90327|REPRIMO" "candidate mediator of the p53 dependent G2 arrest|REPRIMO" "reprimo, TP53 dependant G2 arrest mediator candidate|reprimo, TP53 dependent G2 arrest mediator candidate" 2004-08-05 2017-02-15 2017-02-15 56475 ENSG00000177519 OTTHUMG00000131905 uc002tyq.1 AK074808 NM_019845 CCDS2198 Q9NS64 10930422 MGI:1915124 RGD:1595512 612171 HGNC:24201 "ENST00000325926.4|NM_019845.3" +HGNC:32422 RPRML reprimo like protein-coding gene gene with protein product Approved 17q21.32 17q21.32 MGC43894 reprimo-like 2005-12-15 2016-04-01 2020-04-02 388394 ENSG00000179673 OTTHUMG00000178187 uc002ilb.3 BC033942 NM_203400 CCDS11508 Q8N4K4 MGI:2144486 RGD:1589060 HGNC:32422 "ENST00000322329.5|NM_203400.5" +HGNC:10404 RPS2 ribosomal protein S2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "LLREP3|S2" "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1998-07-29 2015-09-09 6187 ENSG00000140988 OTTHUMG00000128708 uc002cno.3 AB007147 NM_002952 CCDS10452 P15880 9582194 MGI:105110 RGD:619887 603624 HGNC:10404 "ENST00000343262.9|NM_002952.4" +HGNC:16580 RPS2P1 ribosomal protein S2 pseudogene 1 pseudogene pseudogene Approved 20q11.22 20q11.22 dJ64K7.1 2009-03-01 2016-07-22 140755 ENSG00000225246 OTTHUMG00000032286 NG_000998 19123937 PGOHUM00000297109 HGNC:16580 +HGNC:19790 RPS2P2 ribosomal protein S2 pseudogene 2 pseudogene pseudogene Approved 14q24.3 14q24.3 2009-03-01 2017-10-30 326325 ENSG00000177776 OTTHUMG00000157990 NG_002575 19123937 PGOHUM00000292408 HGNC:19790 +HGNC:19806 RPS2P3 ribosomal protein S2 pseudogene 3 pseudogene pseudogene Approved 14q32.2 14q32.2 2009-03-01 2014-11-19 326326 NG_002576 19123937 HGNC:19806 +HGNC:19814 RPS2P4 ribosomal protein S2 pseudogene 4 pseudogene pseudogene Approved 14q32.33 14q32.33 2009-03-01 2014-11-19 92427 ENSG00000196183 OTTHUMG00000158156 NG_002522 19123937 HGNC:19814 +HGNC:31386 RPS2P5 ribosomal protein S2 pseudogene 5 pseudogene pseudogene Approved 12q24.23 12q24.23 bcm384 2009-03-01 2017-10-30 100130562 ENSG00000240342 OTTHUMG00000157753 AC026366 NG_009505 19123937 HGNC:31386 +HGNC:25485 RPS2P6 ribosomal protein S2 pseudogene 6 pseudogene pseudogene Approved 18q22.2 18q22.2 2009-03-01 2017-10-30 342808 ENSG00000214255 OTTHUMG00000158263 NG_005666 19123937 PGOHUM00000294819 HGNC:25485 +HGNC:15838 RPS2P7 ribosomal protein S2 pseudogene 7 pseudogene pseudogene Approved 20q13.12 20q13.12 dJ688G8.1 RPS2L1 ribosomal protein S2-like 1 2009-03-01 2009-01-23 2009-01-23 2014-11-19 86781 ENSG00000235508 OTTHUMG00000032603 NG_000946 19123937 HGNC:15838 +HGNC:36207 RPS2P8 ribosomal protein S2 pseudogene 8 pseudogene pseudogene Approved 1p32.3 01p32.3 2009-03-06 2009-03-11 440589 NG_010039 19123937 HGNC:36207 +HGNC:36704 RPS2P9 ribosomal protein S2 pseudogene 9 pseudogene pseudogene Approved 1q31.3 01q31.3 2009-03-06 2009-03-11 100131866 NG_010131 19123937 HGNC:36704 +HGNC:36892 RPS2P10 ribosomal protein S2 pseudogene 10 pseudogene pseudogene Approved 1q24.1 01q24.1 2009-03-06 2009-03-11 401974 NG_010287 19123937 HGNC:36892 +HGNC:36350 RPS2P11 ribosomal protein S2 pseudogene 11 pseudogene pseudogene Approved 1p33 01p33 2009-03-06 2009-03-11 343184 NG_010755 19123937 HGNC:36350 +HGNC:36546 RPS2P12 ribosomal protein S2 pseudogene 12 pseudogene pseudogene Approved 1p34.2 01p34.2 2009-03-06 2009-03-11 650901 NG_010789 19123937 HGNC:36546 +HGNC:36021 RPS2P13 ribosomal protein S2 pseudogene 13 pseudogene pseudogene Approved 1p33 01p33 2009-03-06 2009-03-11 100270826 NG_011208 19123937 HGNC:36021 +HGNC:36389 RPS2P14 ribosomal protein S2 pseudogene 14 pseudogene pseudogene Approved 1p13 01p13 2009-03-06 2009-03-11 100270827 NG_011213 19123937 HGNC:36389 +HGNC:36468 RPS2P15 ribosomal protein S2 pseudogene 15 pseudogene pseudogene Approved 2p23.3 02p23.3 2009-03-06 2019-11-08 100270858 ENSG00000235440 NG_010017 19123937 HGNC:36468 +HGNC:36865 RPS2P16 ribosomal protein S2 pseudogene 16 pseudogene pseudogene Approved 2q33.1 02q33.1 2009-03-06 2019-12-19 100270860 ENSG00000230799 NG_010029 19123937 HGNC:36865 +HGNC:35764 RPS2P17 ribosomal protein S2 pseudogene 17 pseudogene pseudogene Approved 2p11.2 02p11.2 2009-03-06 2019-12-19 400963 ENSG00000213399 NG_010359 19123937 HGNC:35764 +HGNC:36449 RPS2P18 ribosomal protein S2 pseudogene 18 pseudogene pseudogene Approved 2q31.1 02q31.1 2009-03-06 2020-01-08 643960 ENSG00000231735 NG_010622 19123937 HGNC:36449 +HGNC:35786 RPS2P19 ribosomal protein S2 pseudogene 19 pseudogene pseudogene Approved 3q25.33 03q25.33 2009-03-06 2009-03-11 100270859 NG_010021 19123937 HGNC:35786 +HGNC:35992 RPS2P20 ribosomal protein S2 pseudogene 20 pseudogene pseudogene Approved 4q31.21 04q31.21 2009-03-06 2009-03-11 645018 NG_010814 19123937 HGNC:35992 +HGNC:35591 RPS2P21 ribosomal protein S2 pseudogene 21 pseudogene pseudogene Approved 4p13 04p13 2009-03-06 2009-03-11 441013 NG_010939 19123937 HGNC:35591 +HGNC:35506 RPS2P22 ribosomal protein S2 pseudogene 22 pseudogene pseudogene Approved 5p12 05p12 2009-03-06 2009-03-11 100270861 NG_010034 19123937 HGNC:35506 +HGNC:35760 RPS2P23 ribosomal protein S2 pseudogene 23 pseudogene pseudogene Approved 5q12 05q12 2009-03-06 2009-03-11 100270910 NG_010324 19123937 HGNC:35760 +HGNC:35887 RPS2P24 ribosomal protein S2 pseudogene 24 pseudogene pseudogene Approved 5q13.3 05q13.3 2009-03-06 2017-10-30 100270912 ENSG00000244019 OTTHUMG00000157756 NG_010336 19123937 PGOHUM00000301024 HGNC:35887 +HGNC:36410 RPS2P25 ribosomal protein S2 pseudogene 25 pseudogene pseudogene Approved 5q14.3 05q14.3 2009-03-06 2013-09-23 100270913 ENSG00000241965 OTTHUMG00000157796 NG_010344 19123937 PGOHUM00000251383 HGNC:36410 +HGNC:36157 RPS2P26 ribosomal protein S2 pseudogene 26 pseudogene pseudogene Approved 5q22.3 05q22.3 2009-03-06 2009-03-11 643992 NG_010802 19123937 HGNC:36157 +HGNC:36876 RPS2P27 ribosomal protein S2 pseudogene 27 pseudogene pseudogene Approved 4q28.3 04q28.3 2009-03-06 2009-03-11 440447 NG_011372 19123937 HGNC:36876 +HGNC:35780 RPS2P28 ribosomal protein S2 pseudogene 28 pseudogene pseudogene Approved 6p21.1 06p21.1 2009-03-06 2013-09-19 100132673 ENSG00000179157 OTTHUMG00000014730 NG_010349 19123937 PGOHUM00000243627 HGNC:35780 +HGNC:36011 RPS2P29 ribosomal protein S2 pseudogene 29 pseudogene pseudogene Approved 6p21.1 06p21.1 2009-03-06 2009-03-11 646294 NG_010793 19123937 HGNC:36011 +HGNC:36987 RPS2P30 ribosomal protein S2 pseudogene 30 pseudogene pseudogene Approved 7p15.1 07p15.1 2009-03-06 2009-03-11 100270911 NG_010330 19123937 HGNC:36987 +HGNC:36965 RPS2P31 ribosomal protein S2 pseudogene 31 pseudogene pseudogene Approved 7q31.33 07q31.33 2009-03-06 2009-03-11 392781 NG_006979 19123937 HGNC:36965 +HGNC:30518 RPS2P32 ribosomal protein S2 pseudogene 32 pseudogene pseudogene Approved 7p15.3 07p15.3 MGC27348 2009-03-12 2014-11-19 256355 ENSG00000232818 OTTHUMG00000152681 NG_005656 19123937 PGOHUM00000233150 HGNC:30518 +HGNC:35549 RPS2P33 ribosomal protein S2 pseudogene 33 pseudogene pseudogene Approved 8q22.1 08q22.1 2009-03-06 2009-03-11 286150 NG_011027 19123937 HGNC:35549 +HGNC:36370 RPS2P34 ribosomal protein S2 pseudogene 34 pseudogene pseudogene Approved 9q21.32 09q21.32 2009-03-06 2009-03-11 442426 NG_010308 19123937 HGNC:36370 +HGNC:36757 RPS2P35 ribosomal protein S2 pseudogene 35 pseudogene pseudogene Approved 9q31.1 09q31.1 2009-03-06 2016-11-02 100130980 ENSG00000238172 OTTHUMG00000020361 NG_010860 19123937 PGOHUM00000304007 HGNC:36757 +HGNC:36784 RPS2P36 ribosomal protein S2 pseudogene 36 pseudogene pseudogene Approved 10q24.1 10q24.1 2009-03-06 2016-08-16 100271243 ENSG00000227032 OTTHUMG00000018836 NG_010724 19123937 PGOHUM00000289968 HGNC:36784 +HGNC:36482 RPS2P37 ribosomal protein S2 pseudogene 37 pseudogene pseudogene Approved 11q12.3 11q12.3 2009-03-06 2009-03-11 390206 NG_010329 19123937 HGNC:36482 +HGNC:36584 RPS2P38 ribosomal protein S2 pseudogene 38 pseudogene pseudogene Approved 11p14.3 11p14.3 2009-03-06 2009-03-11 196188 NG_010483 19123937 HGNC:36584 +HGNC:36131 RPS2P39 ribosomal protein S2 pseudogene 39 pseudogene pseudogene Approved 11q22.3 11q22.3 2009-03-06 2017-10-30 100271244 ENSG00000240698 OTTHUMG00000158452 NG_010729 19123937 PGOHUM00000290692 HGNC:36131 +HGNC:35541 RPS2P40 ribosomal protein S2 pseudogene 40 pseudogene pseudogene Approved 11p15.1 11p15.1 2009-03-06 2009-03-11 91561 NG_005977 19123937 HGNC:35541 +HGNC:36357 RPS2P41 ribosomal protein S2 pseudogene 41 pseudogene pseudogene Approved 12q24.12 12q24.12 2009-03-06 2017-10-30 100271245 ENSG00000244060 OTTHUMG00000157736 NG_010735 19123937 PGOHUM00000291466 HGNC:36357 +HGNC:36481 RPS2P42 ribosomal protein S2 pseudogene 42 pseudogene pseudogene Approved 12p13.3-p13.2 12p13.3-p13.2 2009-03-06 2009-03-11 100271247 NG_010746 19123937 HGNC:36481 +HGNC:35652 RPS2P43 ribosomal protein S2 pseudogene 43 pseudogene pseudogene Approved 14q24 14q24 2009-03-06 2009-03-11 100271246 NG_010741 19123937 HGNC:35652 +HGNC:35811 RPS2P44 ribosomal protein S2 pseudogene 44 pseudogene pseudogene Approved 16q12.1 16q12.1 2009-03-06 2017-10-30 100271248 ENSG00000243609 OTTHUMG00000175442 NG_010753 19123937 PGOHUM00000293604 HGNC:35811 +HGNC:25709 RPS2P45 ribosomal protein S2 pseudogene 45 pseudogene pseudogene Approved 16q22.1 16q22.1 FLJ12331 2009-03-12 2014-11-18 80052 ENSG00000244378 OTTHUMG00000158195 NG_006666 19123937 HGNC:25709 +HGNC:35839 RPS2P46 ribosomal protein S2 pseudogene 46 pseudogene pseudogene Approved 17p11.2 17p11.2 2009-03-06 2018-02-02 125208 ENSG00000189343 OTTHUMG00000178199 NG_002360 19123937 PGOHUM00000293984 HGNC:35839 +HGNC:35785 RPS2P47 ribosomal protein S2 pseudogene 47 pseudogene pseudogene Approved 17q21.32 17q21.32 2009-03-06 2009-03-11 644388 NG_011344 19123937 HGNC:35785 +HGNC:35985 RPS2P48 ribosomal protein S2 pseudogene 48 pseudogene pseudogene Approved 17q22 17q22 2009-03-06 2017-10-30 645173 ENSG00000233380 OTTHUMG00000132351 NG_010280 19123937 PGOHUM00000294156 HGNC:35985 +HGNC:36521 RPS2P49 ribosomal protein S2 pseudogene 49 pseudogene pseudogene Approved 17q21 17q21 2009-03-06 2009-03-11 100271251 NG_010770 19123937 HGNC:36521 +HGNC:36034 RPS2P50 ribosomal protein S2 pseudogene 50 pseudogene pseudogene Approved 17q12 17q12 2009-03-06 2009-03-11 729842 NG_011388 19123937 HGNC:36034 +HGNC:36422 RPS2P51 ribosomal protein S2 pseudogene 51 pseudogene pseudogene Approved 19p13.11 19p13.11 2009-03-06 2009-03-11 729679 NG_010424 19123937 HGNC:36422 +HGNC:36059 RPS2P52 ribosomal protein S2 pseudogene 52 pseudogene pseudogene Approved 19p13.3 19p13.3 2009-03-06 2016-10-05 100271250 ENSG00000213726 OTTHUMG00000157965 NG_010764 19123937 PGOHUM00000295162 HGNC:36059 +HGNC:36690 RPS2P53 ribosomal protein S2 pseudogene 53 pseudogene pseudogene Approved 19p13.2 19p13.2 2009-03-06 2009-03-11 729274 NG_010961 19123937 HGNC:36690 +HGNC:35835 RPS2P54 ribosomal protein S2 pseudogene 54 pseudogene pseudogene Approved 20q13.1 20q13.1 2009-03-06 2009-03-11 100271252 NG_010778 19123937 HGNC:35835 +HGNC:36140 RPS2P55 ribosomal protein S2 pseudogene 55 pseudogene pseudogene Approved Xp11.4 Xp11.4 2009-03-06 2011-09-20 286444 ENSG00000216866 OTTHUMG00000024112 NG_011221 19123937 PGOHUM00000241246 HGNC:36140 +HGNC:10420 RPS3 ribosomal protein S3 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "FLJ26283|FLJ27450|MGC87870|S3" "IMR-90 ribosomal protein S3|40S ribosomal protein S3" "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1994-12-02 2016-01-15 6188 ENSG00000149273 OTTHUMG00000165448 uc031qcu.2 NM_001005 "CCDS8236|CCDS58161" P23396 "1712897|7789996" MGI:1350917 RGD:619888 600454 HGNC:10420 "ENST00000531188.6|NM_001005.5" +HGNC:10421 RPS3A ribosomal protein S3A protein-coding gene gene with protein product Approved 4q31.3 04q31.3 S3A MFTL "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1992-09-17 2016-10-05 6189 ENSG00000145425 OTTHUMG00000161445 uc003ilz.4 X87373 NM_001006 CCDS3775 P61247 "8647443|1398113" MGI:1202063 RGD:62078 180478 HGNC:10421 "ENST00000274065.9|NM_001006.5" +HGNC:10422 RPS3AP1 RPS3A pseudogene 1 pseudogene pseudogene Approved 21q21.1 21q21.1 RPS3AP "ribosomal protein S3A pseudogene|ribosomal protein S3A pseudogene 1" 2000-05-23 2001-12-14 2019-10-16 2020-04-20 101241875 ENSG00000233206 OTTHUMG00000078061 NG_000904 PGOHUM00000239046 HGNC:10422 +HGNC:14196 RPS3AP2 RPS3A pseudogene 2 pseudogene pseudogene Approved 16p13.3 16p13.3 ribosomal protein S3A pseudogene 2 2009-03-01 2019-10-16 2019-10-16 64725 ENSG00000219027 OTTHUMG00000044469 AL031705 NG_009483 19123937 HGNC:14196 +HGNC:16537 RPS3AP3 RPS3A pseudogene 3 pseudogene pseudogene Approved 20q11.23 20q11.23 bA332A4.2 ribosomal protein S3A pseudogene 3 2001-09-17 2019-10-16 2019-10-16 140713 ENSG00000231241 OTTHUMG00000032403 NG_000984 PGOHUM00000296988 HGNC:16537 +HGNC:23562 RPS3AP4 RPS3A pseudogene 4 pseudogene pseudogene Approved 14q13.2 14q13.2 ribosomal protein S3A pseudogene 4 2005-12-22 2019-10-16 2019-10-16 100132142 ENSG00000259105 OTTHUMG00000171065 AL160231 NG_009833 PGOHUM00000248134 HGNC:23562 +HGNC:23744 RPS3AP5 RPS3A pseudogene 5 pseudogene pseudogene Approved 10q23.1 10q23.1 bA486O22.3 ribosomal protein S3A pseudogene 5 2009-03-01 2019-10-16 2019-10-16 439992 ENSG00000178429 OTTHUMG00000018642 NG_009792 19123937 PGOHUM00000290226 HGNC:23744 +HGNC:18630 RPS3AP6 RPS3A pseudogene 6 pseudogene pseudogene Approved 15q22.2 15q22.2 ribosomal protein S3A pseudogene 6 2009-03-01 2019-10-16 2019-10-16 145767 ENSG00000234797 OTTHUMG00000157954 NG_004861 19123937 HGNC:18630 +HGNC:36376 RPS3AP7 RPS3A pseudogene 7 pseudogene pseudogene Approved 1q42.12 01q42.12 ribosomal protein S3a pseudogene 7 2009-03-06 2019-10-16 2019-10-16 391168 ENSG00000229965 NG_009958 19123937 HGNC:36376 +HGNC:35638 RPS3AP8 RPS3A pseudogene 8 pseudogene pseudogene Approved 1q25 01q25 ribosomal protein S3a pseudogene 8 2009-03-06 2019-10-16 2019-10-16 100271127 ENSG00000233562 NG_010108 19123937 HGNC:35638 +HGNC:36150 RPS3AP9 RPS3A pseudogene 9 pseudogene pseudogene Approved 1q31.1 01q31.1 ribosomal protein S3a pseudogene 9 2009-03-06 2019-10-16 2019-10-16 100271129 ENSG00000231022 OTTHUMG00000035541 NG_010121 19123937 PGOHUM00000245129 HGNC:36150 +HGNC:36036 RPS3AP10 RPS3A pseudogene 10 pseudogene pseudogene Approved 1q24.1 01q24.1 ribosomal protein S3a pseudogene 10 2009-03-06 2019-10-16 2019-10-16 401975 ENSG00000226292 NG_010293 19123937 HGNC:36036 +HGNC:36825 RPS3AP11 RPS3A pseudogene 11 pseudogene pseudogene Approved 1p34.2 01p34.2 ribosomal protein S3a pseudogene 11 2009-03-06 2019-10-16 2019-10-16 100270904 ENSG00000230116 NG_010295 19123937 HGNC:36825 +HGNC:35527 RPS3AP12 RPS3A pseudogene 12 pseudogene pseudogene Approved 1p12 01p12 ribosomal protein S3a pseudogene 12 2009-03-06 2019-10-16 2019-10-16 100270905 ENSG00000236804 OTTHUMG00000012339 NG_010299 19123937 PGOHUM00000244163 HGNC:35527 +HGNC:54572 RPS3AP13 RPS3A pseudogene 13 pseudogene pseudogene Approved 2q24.2 02q24.2 2019-10-16 2019-10-16 100129742 ENSG00000230783 NG_009919 +HGNC:35715 RPS3AP14 RPS3A pseudogene 14 pseudogene pseudogene Approved 3q21.2 03q21.2 ribosomal protein S3a pseudogene 14 2009-03-06 2019-10-16 2019-10-16 729150 ENSG00000242229 OTTHUMG00000157370 NG_010327 19123937 PGOHUM00000238166 HGNC:35715 +HGNC:35781 RPS3AP15 RPS3A pseudogene 15 pseudogene pseudogene Approved 3p12.3 03p12.3 ribosomal protein S3a pseudogene 15 2009-03-06 2019-10-16 2019-10-16 652670 ENSG00000244674 OTTHUMG00000157316 NG_010655 19123937 PGOHUM00000237660 HGNC:35781 +HGNC:36052 RPS3AP16 RPS3A pseudogene 16 pseudogene pseudogene Approved 4p16.3 04p16.3 ribosomal protein S3a pseudogene 16 2009-03-06 2019-10-16 2019-10-16 727951 ENSG00000243894 NG_010748 19123937 HGNC:36052 +HGNC:36083 RPS3AP17 RPS3A pseudogene 17 pseudogene pseudogene Approved 4p15.1 04p15.1 ribosomal protein S3a pseudogene 17 2009-03-06 2019-10-16 2019-10-16 100271130 ENSG00000244031 OTTHUMG00000157446 NG_010127 19123937 PGOHUM00000250703 HGNC:36083 +HGNC:35893 RPS3AP18 RPS3A pseudogene 18 pseudogene pseudogene Approved 4q31.3 04q31.3 ribosomal protein S3a pseudogene 18 2009-03-06 2019-10-16 2019-10-16 391706 ENSG00000243417 NG_010134 19123937 HGNC:35893 +HGNC:36467 RPS3AP19 RPS3A pseudogene 19 pseudogene pseudogene Approved 4p16.1 04p16.1 ribosomal protein S3a pseudogene 19 2009-03-06 2019-10-16 2019-10-16 728700 ENSG00000244004 NG_009562 19123937 HGNC:36467 +HGNC:36141 RPS3AP20 RPS3A pseudogene 20 pseudogene pseudogene Approved 5q14.1 05q14.1 ribosomal protein S3a pseudogene 20 2009-03-06 2019-10-16 2019-10-16 643932 ENSG00000213757 NG_010482 19123937 HGNC:36141 +HGNC:36841 RPS3AP21 RPS3A pseudogene 21 pseudogene pseudogene Approved 5q22.1 05q22.1 ribosomal protein S3a pseudogene 21 2009-03-06 2019-10-16 2019-10-16 402287 ENSG00000214784 NG_006521 19123937 HGNC:36841 +HGNC:36573 RPS3AP22 RPS3A pseudogene 22 pseudogene pseudogene Approved 5q14.3 05q14.3 ribosomal protein S3a pseudogene 22 2009-03-06 2019-10-16 2019-10-16 100130786 ENSG00000240083 OTTHUMG00000157798 NG_011168 19123937 PGOHUM00000251385 HGNC:36573 +HGNC:36767 RPS3AP23 RPS3A pseudogene 23 pseudogene pseudogene Approved 6q24.1 06q24.1 ribosomal protein S3a pseudogene 23 2009-03-06 2019-10-16 2019-10-16 100271131 ENSG00000218351 OTTHUMG00000015703 NG_010136 19123937 PGOHUM00000243401 HGNC:36767 +HGNC:36267 RPS3AP24 RPS3A pseudogene 24 pseudogene pseudogene Approved 6q24.1 06q24.1 ribosomal protein S3a pseudogene 24 2009-03-06 2019-10-16 2019-10-16 100271253 ENSG00000217684 OTTHUMG00000015701 NG_010784 19123937 PGOHUM00000260190 HGNC:36267 +HGNC:36801 RPS3AP25 RPS3A pseudogene 25 pseudogene pseudogene Approved 7q21.3 07q21.3 ribosomal protein S3a pseudogene 25 2009-03-06 2019-10-16 2019-10-16 645968 ENSG00000232385 OTTHUMG00000155577 NG_005352 19123937 PGOHUM00000232918 HGNC:36801 +HGNC:36513 RPS3AP26 RPS3A pseudogene 26 pseudogene pseudogene Approved 7q21.3 07q21.3 ribosomal protein S3a pseudogene 26 2009-03-06 2019-10-16 2019-10-16 644972 ENSG00000214389 OTTHUMG00000154287 NG_006069 19123937 PGOHUM00000232927 HGNC:36513 +HGNC:35978 RPS3AP27 RPS3A pseudogene 27 pseudogene pseudogene Approved 7q31 07q31 ribosomal protein S3a pseudogene 27 2009-03-06 2019-10-16 2019-10-16 100271255 ENSG00000226205 NG_010795 19123937 HGNC:35978 +HGNC:35738 RPS3AP28 RPS3A pseudogene 28 pseudogene pseudogene Approved 7q34 07q34 ribosomal protein S3a pseudogene 28 2009-03-06 2019-10-16 2019-10-16 100271257 ENSG00000234995 NG_010807 19123937 HGNC:35738 +HGNC:35531 RPS3AP29 RPS3A pseudogene 29 pseudogene pseudogene Approved 7q21.3 07q21.3 ribosomal protein S3a pseudogene 29 2009-03-06 2019-10-16 2019-10-16 730861 ENSG00000237818 OTTHUMG00000154184 NG_011230 19123937 PGOHUM00000232922 HGNC:35531 +HGNC:35538 RPS3AP30 RPS3A pseudogene 30 pseudogene pseudogene Approved 8p23.1 08p23.1 ribosomal protein S3a pseudogene 30 2009-03-06 2019-10-16 2019-10-16 100271254 ENSG00000228744 OTTHUMG00000150575 NG_010791 19123937 HGNC:35538 +HGNC:36860 RPS3AP31 RPS3A pseudogene 31 pseudogene pseudogene Approved 8p23.1 08p23.1 ribosomal protein S3a pseudogene 31 2009-03-06 2019-10-16 2019-10-16 100271256 ENSG00000244427 NG_010800 19123937 HGNC:36860 +HGNC:36717 RPS3AP32 RPS3A pseudogene 32 pseudogene pseudogene Approved 8q21.11 08q21.11 ribosomal protein S3a pseudogene 32 2009-03-06 2019-10-16 2019-10-16 100271258 ENSG00000240047 OTTHUMG00000158628 NG_010813 19123937 PGOHUM00000303595 HGNC:36717 +HGNC:35476 RPS3AP33 RPS3A pseudogene 33 pseudogene pseudogene Approved 8p23.1 08p23.1 ribosomal protein S3a pseudogene 33 2009-03-06 2019-10-16 2019-10-16 100271259 ENSG00000214268 OTTHUMG00000149981 NG_010816 19123937 PGOHUM00000303052 HGNC:35476 +HGNC:36293 RPS3AP34 RPS3A pseudogene 34 pseudogene pseudogene Approved 8p23.1 08p23.1 ribosomal protein S3a pseudogene 34 2009-03-06 2019-10-16 2019-10-16 100271260 ENSG00000242607 OTTHUMG00000158124 NG_010820 19123937 PGOHUM00000303103 HGNC:36293 +HGNC:35902 RPS3AP35 RPS3A pseudogene 35 pseudogene pseudogene Approved 8p23.1 08p23.1 ribosomal protein S3a pseudogene 35 2009-03-06 2019-10-16 2019-10-16 100271261 ENSG00000244289 OTTHUMG00000158126 NG_010825 19123937 PGOHUM00000303106 HGNC:35902 +HGNC:35596 RPS3AP36 RPS3A pseudogene 36 pseudogene pseudogene Approved 10q24.1 10q24.1 ribosomal protein S3a pseudogene 36 2009-03-06 2019-10-16 2019-10-16 643981 ENSG00000214362 OTTHUMG00000018816 NG_010737 19123937 PGOHUM00000290259 HGNC:35596 +HGNC:36691 RPS3AP37 RPS3A pseudogene 37 pseudogene pseudogene Approved 10q21.3 10q21.3 ribosomal protein S3a pseudogene 37 2009-03-06 2019-10-16 2019-10-16 100271593 ENSG00000227583 OTTHUMG00000018357 NG_011202 19123937 PGOHUM00000290193 HGNC:36691 +HGNC:36145 RPS3AP38 RPS3A pseudogene 38 pseudogene pseudogene Approved 10q21.3 10q21.3 ribosomal protein S3a pseudogene 38 2009-03-06 2019-10-16 2019-10-16 100271594 ENSG00000226318 OTTHUMG00000018341 NG_011211 19123937 PGOHUM00000289883 HGNC:36145 +HGNC:35490 RPS3AP39 RPS3A pseudogene 39 pseudogene pseudogene Approved 11p15.4 11p15.4 ribosomal protein S3a pseudogene 39 2009-03-06 2019-10-16 2019-10-16 730993 ENSG00000237226 OTTHUMG00000011698 NG_010582 19123937 PGOHUM00000290343 HGNC:35490 +HGNC:35869 RPS3AP40 RPS3A pseudogene 40 pseudogene pseudogene Approved 11q13.2 11q13.2 ribosomal protein S3a pseudogene 40 2009-03-06 2019-10-16 2019-10-16 100129199 ENSG00000243672 OTTHUMG00000158401 NG_010912 19123937 PGOHUM00000290573 HGNC:35869 +HGNC:37000 RPS3AP41 RPS3A pseudogene 41 pseudogene pseudogene Approved 11q13.4 11q13.4 ribosomal protein S3a pseudogene 41 2009-03-06 2019-10-16 2019-10-16 100271595 ENSG00000239481 OTTHUMG00000158403 NG_011216 19123937 PGOHUM00000242782 HGNC:37000 +HGNC:35605 RPS3AP42 RPS3A pseudogene 42 pseudogene pseudogene Approved 11q14.3 11q14.3 ribosomal protein S3a pseudogene 42 2009-03-06 2019-10-16 2019-10-16 100271597 ENSG00000244244 OTTHUMG00000158439 NG_011229 19123937 PGOHUM00000290650 HGNC:35605 +HGNC:36684 RPS3AP43 RPS3A pseudogene 43 pseudogene pseudogene Approved 12p13.31 12p13.31 ribosomal protein S3a pseudogene 43 2009-03-06 2019-10-16 2019-10-16 727970 ENSG00000242661 OTTHUMG00000157447 NG_010849 19123937 PGOHUM00000250983 HGNC:36684 +HGNC:36761 RPS3AP44 RPS3A pseudogene 44 pseudogene pseudogene Approved 13q12.13 13q12.13 ribosomal protein S3a pseudogene 44 2009-03-06 2019-10-16 2019-10-16 646527 ENSG00000234031 OTTHUMG00000016618 NG_010660 19123937 PGOHUM00000248547 HGNC:36761 +HGNC:36338 RPS3AP46 RPS3A pseudogene 46 pseudogene pseudogene Approved 14q22.2 14q22.2 ribosomal protein S3a pseudogene 46 2009-03-06 2019-10-16 2019-10-16 100271596 ENSG00000226132 OTTHUMG00000060736 NG_011220 19123937 PGOHUM00000248175 HGNC:36338 +HGNC:36744 RPS3AP47 RPS3A pseudogene 47 pseudogene pseudogene Approved 15q15.2 15q15.2 ribosomal protein S3a pseudogene 47 2009-03-06 2019-10-16 2019-10-16 146053 ENSG00000205871 OTTHUMG00000157905 NG_010693 19123937 PGOHUM00000292926 HGNC:36744 +HGNC:36792 RPS3AP48 RPS3A pseudogene 48 pseudogene pseudogene Approved 16p13.3 16p13.3 ribosomal protein S3a pseudogene 48 2009-03-06 2019-10-16 2019-10-16 100127963 ENSG00000242278 NG_011131 19123937 HGNC:36792 +HGNC:36810 RPS3AP49 RPS3A pseudogene 49 pseudogene pseudogene Approved 18q21.32 18q21.32 ribosomal protein S3a pseudogene 49 2009-03-06 2019-10-16 2019-10-16 400652 ENSG00000242060 OTTHUMG00000158256 NG_010032 19123937 PGOHUM00000294803 HGNC:36810 +HGNC:37018 RPS3AP50 RPS3A pseudogene 50 pseudogene pseudogene Approved 19q13.11 19q13.11 ribosomal protein S3a pseudogene 50 2009-03-06 2019-10-16 2019-10-16 100271601 ENSG00000243864 OTTHUMG00000158153 NG_011245 19123937 PGOHUM00000234660 HGNC:37018 +HGNC:35480 RPS3AP51 RPS3A pseudogene 51 pseudogene pseudogene Approved 22q12.2 22q12.2 ribosomal protein S3a pseudogene 51 2009-03-06 2019-10-16 2019-10-16 100271600 ENSG00000225971 OTTHUMG00000150894 NG_011242 19123937 HGNC:35480 +HGNC:42004 RPS3AP52 RPS3A pseudogene 52 pseudogene pseudogene Approved 13q21.33 13q21.33 ribosomal protein S3a pseudogene 52 2011-05-31 2019-10-16 2019-10-16 100873818 ENSG00000230405 OTTHUMG00000017048 NG_032387 PGOHUM00000249956 HGNC:42004 +HGNC:44500 RPS3AP53 RPS3A pseudogene 53 pseudogene pseudogene Approved 3p25.1 03p25.1 ribosomal protein S3a pseudogene 53 2012-11-12 2019-10-16 2019-10-16 100287512 ENSG00000227578 OTTHUMG00000155576 NG_022239 PGOHUM00000237950 HGNC:44500 +HGNC:49750 RPS3AP54 RPS3A pseudogene 54 pseudogene pseudogene Approved 9p24.1 09p24.1 ribosomal protein S3a pseudogene 54 2014-02-13 2019-10-16 2019-10-16 101927101 ENSG00000229057 OTTHUMG00000019526 PGOHUM00000250518 HGNC:49750 +HGNC:16579 RPS3P1 ribosomal protein S3 pseudogene 1 pseudogene pseudogene Approved 20p12.1 20p12.1 dJ631M13.3 2001-09-17 2016-07-22 140754 ENSG00000230935 OTTHUMG00000031912 NG_000997 PGOHUM00000297055 HGNC:16579 +HGNC:16603 RPS3P2 ribosomal protein S3 pseudogene 2 pseudogene pseudogene Approved 20q11.23 20q11.23 dJ927M24.3 2009-03-01 2016-07-22 140761 ENSG00000231307 OTTHUMG00000032448 NG_001004 19123937 PGOHUM00000297117 HGNC:16603 +HGNC:36700 RPS3P3 ribosomal protein S3 pseudogene 3 pseudogene pseudogene Approved 3q27.1 03q27.1 2009-03-06 2009-03-11 440991 NG_010838 19123937 HGNC:36700 +HGNC:36616 RPS3P4 ribosomal protein S3 pseudogene 4 pseudogene pseudogene Approved 6p25 06p25 2009-03-06 2009-03-11 100270862 NG_010045 19123937 HGNC:36616 +HGNC:36869 RPS3P5 ribosomal protein S3 pseudogene 5 pseudogene pseudogene Approved 6q16.3 06q16.3 2009-03-06 2009-03-11 100131956 NG_010604 19123937 HGNC:36869 +HGNC:36061 RPS3P6 ribosomal protein S3 pseudogene 6 pseudogene pseudogene Approved 12q14.1 12q14.1 2009-03-06 2012-10-03 645000 ENSG00000213363 OTTHUMG00000157595 NG_010709 19123937 PGOHUM00000257942 HGNC:36061 +HGNC:36056 RPS3P7 ribosomal protein S3 pseudogene 7 pseudogene pseudogene Approved 16q23.1 16q23.1 2009-03-06 2012-08-15 645957 ENSG00000243101 OTTHUMG00000158264 NG_011363 19123937 PGOHUM00000249177 HGNC:36056 +HGNC:10424 RPS4X ribosomal protein S4 X-linked protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "DXS306|CCG2|SCAR|SCR10|FLJ40595|RPS4|S4" "40S ribosomal protein S4, X isoform|ribosomal protein S4X isoform|single-copy abundant mRNA|cell cycle gene 2" S ribosomal proteins 728 1991-08-17 2018-04-26 2020-04-02 6191 ENSG00000198034 OTTHUMG00000021813 uc004ear.4 NM_001007 CCDS14418 P62701 "1795030|8139551" MGI:98158 RGD:2324318 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPS4X 312760 HGNC:10424 "ENST00000316084.10|NM_001007.5" +HGNC:32444 RPS4XP1 ribosomal protein S4X pseudogene 1 pseudogene pseudogene Approved 12q23.1 12q23.1 RPS4P1 ribosomal protein S4 pseudogene 1 2009-03-01 2010-02-04 2010-02-04 2014-11-19 400064 ENSG00000214203 OTTHUMG00000157676 AC126474 NG_009506 19123937 PGOHUM00000239559 HGNC:32444 +HGNC:16563 RPS4XP2 ribosomal protein S4X pseudogene 2 pseudogene pseudogene Approved 20p13 20p13 dJ189G13.2 "RPS4L2|RPS4P2" "ribosomal protein S4-like 2|ribosomal protein S4 pseudogene 2" 2009-03-01 2010-02-04 2010-02-04 2014-11-19 92507 ENSG00000226948 OTTHUMG00000031784 AL121916 NG_000950.3 19123937 PGOHUM00000247432 HGNC:16563 +HGNC:16251 RPS4XP3 ribosomal protein S4X pseudogene 3 pseudogene pseudogene Approved 20q13.31 20q13.31 dJ843L14.2 "RPS4L|RPS4P3" "ribosomal protein S4-like|ribosomal protein S4 pseudogene 3" 2001-07-17 2010-02-04 2010-02-04 2012-09-20 128580 ENSG00000214541 OTTHUMG00000032802 NG_000967 PGOHUM00000247680 HGNC:16251 +HGNC:36545 RPS4XP4 ribosomal protein S4X pseudogene 4 pseudogene pseudogene Approved 1p36.12 01p36.12 RPS4P4 2009-03-06 2010-02-04 2013-05-14 441878 ENSG00000215520 OTTHUMG00000002839 NG_010104 19123937 PGOHUM00000244629 HGNC:36545 +HGNC:36670 RPS4XP5 ribosomal protein S4X pseudogene 5 pseudogene pseudogene Approved 2p15 02p15 RPS4P5 2009-03-06 2010-02-04 2013-09-05 100271132 ENSG00000229920 OTTHUMG00000152611 NG_010143 19123937 PGOHUM00000264483 HGNC:36670 +HGNC:36057 RPS4XP6 ribosomal protein S4X pseudogene 6 pseudogene pseudogene Approved 5p13.2 05p13.2 RPS4P6 2009-03-06 2010-02-04 2013-05-14 391777 ENSG00000244073 OTTHUMG00000157671 NG_010506 19123937 PGOHUM00000235562 HGNC:36057 +HGNC:36885 RPS4XP7 ribosomal protein S4X pseudogene 7 pseudogene pseudogene Approved 6p23 06p23 RPS4P7 2009-03-06 2010-02-04 2013-05-14 442162 ENSG00000218265 OTTHUMG00000014275 NG_010267 19123937 PGOHUM00000243489 HGNC:36885 +HGNC:36683 RPS4XP8 ribosomal protein S4X pseudogene 8 pseudogene pseudogene Approved 6q25.2 06q25.2 RPS4P8 2009-03-06 2010-02-04 2013-05-14 646269 ENSG00000219146 OTTHUMG00000015875 NG_010649 19123937 PGOHUM00000243834 HGNC:36683 +HGNC:35792 RPS4XP9 ribosomal protein S4X pseudogene 9 pseudogene pseudogene Approved 6q22.32 06q22.32 RPS4P9 2009-03-06 2010-02-04 2013-05-14 442257 ENSG00000217404 OTTHUMG00000016146 NG_010761 19123937 PGOHUM00000243767 HGNC:35792 +HGNC:35741 RPS4XP10 ribosomal protein S4X pseudogene 10 pseudogene pseudogene Approved 8q22.1 08q22.1 RPS4P10 2009-03-06 2010-02-04 2013-05-14 100271133 ENSG00000244217 OTTHUMG00000158666 NG_010150 19123937 PGOHUM00000249748 HGNC:35741 +HGNC:37013 RPS4XP11 ribosomal protein S4X pseudogene 11 pseudogene pseudogene Approved 10p11.22 10p11.22 RPS4P11 2009-03-06 2010-02-04 2013-05-14 441550 ENSG00000234335 OTTHUMG00000017915 NG_011069 19123937 PGOHUM00000238394 HGNC:37013 +HGNC:35951 RPS4XP12 ribosomal protein S4X pseudogene 12 pseudogene pseudogene Approved 11q23.3 11q23.3 RPS4P12 2009-03-06 2010-02-04 2013-05-14 100271385 ENSG00000244400 OTTHUMG00000158474 NG_010122 19123937 PGOHUM00000242510 HGNC:35951 +HGNC:36522 RPS4XP13 ribosomal protein S4X pseudogene 13 pseudogene pseudogene Approved 11q12.1 11q12.1 RPS4P13 2009-03-06 2010-02-04 2013-05-14 390183 ENSG00000240371 OTTHUMG00000158394 NG_010213 19123937 PGOHUM00000242288 HGNC:36522 +HGNC:36737 RPS4XP14 ribosomal protein S4X pseudogene 14 pseudogene pseudogene Approved 12p13.33 12p13.33 RPS4P14 2009-03-06 2010-02-04 2013-05-14 729097 ENSG00000243663 OTTHUMG00000157376 NG_010015 19123937 PGOHUM00000239291 HGNC:36737 +HGNC:36308 RPS4XP15 ribosomal protein S4X pseudogene 15 pseudogene pseudogene Approved 12q21.32 12q21.32 RPS4P15 2009-03-06 2010-02-04 2013-05-14 100131055 ENSG00000240721 OTTHUMG00000157662 NG_011238 19123937 HGNC:36308 +HGNC:36365 RPS4XP16 ribosomal protein S4X pseudogene 16 pseudogene pseudogene Approved 13q14.3 13q14.3 RPS4P16 2009-03-06 2010-02-04 2014-11-19 220433 ENSG00000224892 OTTHUMG00000016946 NG_010070 19123937 PGOHUM00000248595 HGNC:36365 +HGNC:36789 RPS4XP17 ribosomal protein S4X pseudogene 17 pseudogene pseudogene Approved 17p13.3 17p13.3 RPS4P17 2009-03-06 2010-02-04 2013-05-14 100128140 ENSG00000244097 OTTHUMG00000157647 NG_010733 19123937 PGOHUM00000236898 HGNC:36789 +HGNC:36170 RPS4XP18 ribosomal protein S4X pseudogene 18 pseudogene pseudogene Approved 18q11.2 18q11.2 RPS4P18 2009-03-06 2010-02-04 2013-05-14 646583 ENSG00000239490 OTTHUMG00000158176 NG_010953 19123937 PGOHUM00000235027 HGNC:36170 +HGNC:36872 RPS4XP19 ribosomal protein S4X pseudogene 19 pseudogene pseudogene Approved 18p11.22 18p11.22 RPS4P19 2009-03-06 2010-02-04 2013-05-14 645573 ENSG00000242058 OTTHUMG00000158162 NG_011021 19123937 PGOHUM00000234984 HGNC:36872 +HGNC:36437 RPS4XP20 ribosomal protein S4X pseudogene 20 pseudogene pseudogene Approved 19q13.11 19q13.11 RPS4P20 2009-03-06 2010-02-04 2013-06-03 100271386 ENSG00000249987 OTTHUMG00000184237 NG_010128 19123937 PGOHUM00000259324 HGNC:36437 +HGNC:36228 RPS4XP21 ribosomal protein S4X pseudogene 21 pseudogene pseudogene Approved 19q13.11 19q13.11 RPS4P21 2009-03-06 2010-02-04 2014-11-19 126235 ENSG00000186008 OTTHUMG00000158165 NG_009255 19123937 HGNC:36228 +HGNC:36125 RPS4XP22 ribosomal protein S4X pseudogene 22 pseudogene pseudogene Approved 19p13.2 19p13.2 RPS4P22 2009-03-06 2010-02-04 2013-05-14 100131614 ENSG00000239830 OTTHUMG00000157988 NG_010161 19123937 PGOHUM00000234150 HGNC:36125 +HGNC:48367 RPS4XP23 ribosomal protein S4X pseudogene 23 pseudogene pseudogene Approved 19q13.11 19q13.11 2013-05-14 2013-05-14 2013-05-14 106480153 ENSG00000239253 OTTHUMG00000158173 NG_043113 PGOHUM00000234661 HGNC:48367 +HGNC:10425 RPS4Y1 ribosomal protein S4 Y-linked 1 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 "MGC5070|MGC119100|S4" "ribosomal protein S4Y|40S ribosomal protein S4, Y" RPS4Y ribosomal protein S4, Y-linked "S ribosomal proteins|Minor histocompatibility antigens" "728|870" 1991-08-08 2004-05-26 2018-04-30 2018-04-30 6192 ENSG00000129824 OTTHUMG00000036152 uc004fqi.4 NM_001008 CCDS14773 P22090 MGI:98158 470000 HGNC:10425 "ENST00000250784.13|NM_001008.4" +HGNC:36893 RPS4Y1P1 RPS4Y1 pseudogene 1 pseudogene pseudogene Approved 16q23.1 16q23.1 ribosomal protein S4Y pseudogene 1 2009-03-06 2018-04-30 2018-04-30 441774 NG_009472 19123937 HGNC:36893 +HGNC:18501 RPS4Y2 ribosomal protein S4 Y-linked 2 protein-coding gene gene with protein product Approved Yq11.223 Yq11.223 RPS4Y2P ribosomal protein S4, Y-linked 2 pseudogene S ribosomal proteins 728 2002-05-22 2006-02-22 2018-04-30 2018-04-30 140032 ENSG00000280969 OTTHUMG00000036540 uc011nbb.3 AF497481 NM_001039567 CCDS44028 Q8TD47 12815422 MGI:98158 RGD:1590988 400030 HGNC:18501 "ENST00000629237.2|NM_001039567.3" +HGNC:10426 RPS5 ribosomal protein S5 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 S5 40S ribosomal protein S5 S ribosomal proteins 728 1997-07-07 2019-08-21 6193 ENSG00000083845 OTTHUMG00000183530 uc002qsn.4 U14970 NM_001009 CCDS12978 P46782 "7772601|9582194" MGI:1097682 RGD:3601 603630 HGNC:10426 "ENST00000196551.8|NM_001009.4" +HGNC:10428 RPS5P1 RPS5 pseudogene 1 pseudogene pseudogene Approved 6q22.1 06q22.1 ribosomal protein S5 pseudogene 1 2009-03-01 2020-04-17 2020-04-17 26516 NG_000896 19123937 HGNC:10428 +HGNC:17222 RPS5P2 RPS5 pseudogene 2 pseudogene pseudogene Approved 21q22.11 21q22.11 ribosomal protein S5 pseudogene 2 2009-03-01 2020-04-17 2020-04-17 100130240 ENSG00000224598 OTTHUMG00000065822 NG_009782 19123937 PGOHUM00000239070 HGNC:17222 +HGNC:10427 RPS5P3 RPS5 pseudogene 3 pseudogene pseudogene Approved 21q22.11 21q22.11 RPS5L "ribosomal protein S5-like|ribosomal protein S5 pseudogene 3" 2009-03-01 2009-01-23 2020-04-17 2020-04-17 54022 ENSG00000215088 OTTHUMG00000065532 NG_000903 19123937 PGOHUM00000239068 HGNC:10427 +HGNC:36122 RPS5P4 RPS5 pseudogene 4 pseudogene pseudogene Approved 1q32.3 01q32.3 ribosomal protein S5 pseudogene 4 2009-03-06 2020-04-17 2020-04-17 100129090 NG_010354 19123937 HGNC:36122 +HGNC:35626 RPS5P5 RPS5 pseudogene 5 pseudogene pseudogene Approved 8q21.13 08q21.13 ribosomal protein S5 pseudogene 5 2009-03-06 2020-04-17 2020-04-17 340443 NG_011128 19123937 HGNC:35626 +HGNC:35960 RPS5P6 RPS5 pseudogene 6 pseudogene pseudogene Approved 9p24.1 09p24.1 ribosomal protein S5 pseudogene 6 2009-03-06 2020-04-17 2020-04-17 392282 NG_010474 19123937 HGNC:35960 +HGNC:36881 RPS5P7 RPS5 pseudogene 7 pseudogene pseudogene Approved Xq23 Xq23 ribosomal protein S5 pseudogene 7 2009-03-06 2020-04-17 2020-04-17 392520 ENSG00000225381 OTTHUMG00000022191 NG_010389 19123937 PGOHUM00000241946 HGNC:36881 +HGNC:36531 RPS5P8 RPS5 pseudogene 8 pseudogene pseudogene Approved Xp22.31 Xp22.31 ribosomal protein S5 pseudogene 8 2009-03-06 2020-04-17 2020-04-17 392424 ENSG00000237730 NG_011198 19123937 HGNC:36531 +HGNC:10429 RPS6 ribosomal protein S6 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 S6 "40S ribosomal protein S6|phosphoprotein NP33" S ribosomal proteins 728 1990-07-06 2016-10-05 6194 ENSG00000137154 OTTHUMG00000019642 uc003znv.2 NM_001010 CCDS6492 P62753 1577483 MGI:98159 RGD:3602 180460 ligandId:5256 HGNC:10429 "ENST00000380394.9|NM_001010.3" +HGNC:10430 RPS6KA1 ribosomal protein S6 kinase A1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "RSK1|HU-1|p90Rsk|MAPKAPK1" ribosomal protein S6 kinase, 90kD, polypeptide 1 "MAPK activated protein kinases|AGC family kinases|MicroRNA protein coding host genes" "1156|1625|1691" 1994-07-11 2016-03-01 2019-08-07 6195 ENSG00000117676 OTTHUMG00000004003 uc001bmr.2 BC014966 NM_002953 "CCDS30649|CCDS284|CCDS81286" Q15418 "8141249|11049854" MGI:104558 RGD:620675 601684 objectId:1527 HGNC:10430 "ENST00000374168.7|NM_002953.4" +HGNC:10431 RPS6KA2 ribosomal protein S6 kinase A2 protein-coding gene gene with protein product Approved 6q27 06q27 "RSK3|HU-2" ribosomal protein S6 kinase, 90kD, polypeptide 2 "MAPK activated protein kinases|AGC family kinases|MicroRNA protein coding host genes" "1156|1625|1691" 1994-07-11 2016-03-01 2018-04-18 6196 ENSG00000071242 OTTHUMG00000016007 uc003qvb.2 L07598 NM_021135 "CCDS83147|CCDS5294|CCDS34570|CCDS83148" Q15349 8141249 MGI:1342290 RGD:620676 601685 objectId:1529 HGNC:10431 "ENST00000265678.9|NM_021135.6" +HGNC:40511 RPS6KA2-AS1 RPS6KA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q27 06q27 RPS6KA2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-25 2012-08-15 2018-09-07 100861523 ENSG00000231654 OTTHUMG00000016006 uc032xsy.2 "AA707471|AW290888" NR_046644 19287968 rps6ka2-antisense-transcript RPS6KA2-AS1 HGNC:40511 +HGNC:41378 RPS6KA2-IT1 RPS6KA2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6q27 06q27 RPS6KA2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874353 ENSG00000232082 OTTHUMG00000046164 uc031src.1 NR_046793 RPS6KA2-IT1 HGNC:41378 +HGNC:10432 RPS6KA3 ribosomal protein S6 kinase A3 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "RSK2|HU-3" "MRX19|CLS" ribosomal protein S6 kinase, 90kD, polypeptide 3 "MAPK activated protein kinases|AGC family kinases" "1156|1625" 1994-07-11 2016-03-01 2020-04-02 6197 ENSG00000177189 OTTHUMG00000021231 uc004czu.4 U08316 NM_004586 CCDS14197 P51812 "8141249|11896450|16879200" MGI:104557 RGD:1563860 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPS6KA3 300075 118405 objectId:1528 HGNC:10432 "ENST00000379565.9|NM_004586.3" HGNC:10432 +HGNC:10433 RPS6KA4 ribosomal protein S6 kinase A4 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "RSK-B|MSK2" ribosomal protein S6 kinase, 90kD, polypeptide 4 "MAPK activated protein kinases|AGC family kinases|MicroRNA protein coding host genes" "1156|1625|1691" 1999-03-10 2016-03-01 2016-10-05 8986 ENSG00000162302 OTTHUMG00000046094 uc001oae.4 AJ010119 NM_003942 "CCDS73313|CCDS8073" O75676 "9792677|9687510" MGI:1930076 RGD:1307277 603606 objectId:1524 HGNC:10433 "ENST00000334205.9|NM_003942.3" +HGNC:10434 RPS6KA5 ribosomal protein S6 kinase A5 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "MSK1|RLPK" ribosomal protein S6 kinase, 90kD, polypeptide 5 "MAPK activated protein kinases|AGC family kinases" "1156|1625" 1999-03-10 2016-03-01 2016-03-01 9252 ENSG00000100784 OTTHUMG00000171055 uc001xys.4 AF074393 NM_004755 "CCDS45149|CCDS9893|CCDS81839" O75582 "9687510|10702687" MGI:1920336 RGD:1308336 603607 objectId:1523 HGNC:10434 "ENST00000614987.5|NM_004755.4" +HGNC:10435 RPS6KA6 ribosomal protein S6 kinase A6 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 RSK4 ribosomal protein S6 kinase, 90kD, polypeptide 6 "MAPK activated protein kinases|AGC family kinases" "1156|1625" 2000-02-17 2016-03-01 2020-04-02 27330 ENSG00000072133 OTTHUMG00000021923 uc004eej.3 AF184965 NM_014496 "CCDS83480|CCDS14451" Q9UK32 10644430 MGI:1914321 RGD:1560817 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RPS6KA6 300303 objectId:1530 HGNC:10435 "ENST00000262752.5|NM_014496.5" +HGNC:10436 RPS6KB1 ribosomal protein S6 kinase B1 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "S6K1|p70(S6K)-alpha|PS6K|S6K" STK14A ribosomal protein S6 kinase, 70kD, polypeptide 1 AGC family kinases 1625 1994-07-11 2016-03-01 2018-04-18 6198 ENSG00000108443 OTTHUMG00000150642 uc002ixy.5 M60724 NM_003161 "CCDS62272|CCDS62273|CCDS11621|CCDS62271" P23443 1922062 MGI:1270849 RGD:620683 608938 objectId:1525 HGNC:10436 "ENST00000225577.9|NM_003161.4" +HGNC:10437 RPS6KB2 ribosomal protein S6 kinase B2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "p70S6Kb|P70-BETA|STK14B|KLS|S6KB|S6Kbeta|S6Kβ" ribosomal protein S6 kinase, 70kD, polypeptide 2 AGC family kinases 1625 1994-07-13 2016-03-01 2018-04-18 6199 ENSG00000175634 OTTHUMG00000167673 uc001old.4 AB019245 NM_003952 CCDS41677 Q9UBS0 "9878560|9804755" MGI:1927343 RGD:1305144 608939 objectId:1526 HGNC:10437 "ENST00000312629.10|NM_003952.3" +HGNC:53744 RPS6KB2-AS1 RPS6KB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.2 11q13.2 AP003419.16 Antisense RNAs 1987 2017-09-28 2017-10-06 111216279 ENSG00000255949 OTTHUMG00000168038 28944926 +HGNC:10439 RPS6KC1 ribosomal protein S6 kinase C1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "humS6PKh1|RSKL1" ribosomal protein S6 kinase, 52kD, polypeptide 1 AGC family kinases 1625 1999-12-14 2016-03-01 2018-04-18 26750 ENSG00000136643 OTTHUMG00000036926 uc010ptr.4 AF037447 NM_012424 "CCDS44317|CCDS1513|CCDS73028|CCDS73029|CCDS73030" Q96S38 10552933 MGI:2443419 RGD:1306578 617517 objectId:1532 HGNC:10439 "ENST00000366960.8|NM_012424.6" HGNC:10439 +HGNC:20222 RPS6KL1 ribosomal protein S6 kinase like 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "MGC11287|RSKL2" ribosomal protein S6 kinase-like 1 AGC family kinases 1625 2003-01-15 2015-11-17 2018-04-18 83694 ENSG00000198208 OTTHUMG00000171484 uc010tux.3 BC004540 NM_001370252 CCDS9834 Q9Y6S9 MGI:2443413 RGD:1309493 objectId:1533 HGNC:20222 "ENST00000557413.6|NM_031464.5" +HGNC:32478 RPS6P1 ribosomal protein S6 pseudogene 1 pseudogene pseudogene Approved 12p13.1 12p13.1 2009-03-01 2014-11-18 440086 NG_009657 19123937 HGNC:32478 +HGNC:36446 RPS6P2 ribosomal protein S6 pseudogene 2 pseudogene pseudogene Approved 2q31.2 02q31.2 2009-03-06 2013-09-23 100270864 ENSG00000231541 OTTHUMG00000154556 NG_010058 19123937 PGOHUM00000241034 HGNC:36446 +HGNC:36943 RPS6P3 ribosomal protein S6 pseudogene 3 pseudogene pseudogene Approved 2q11.2 02q11.2 2009-03-06 2019-11-08 644013 ENSG00000237549 NG_010900 19123937 HGNC:36943 +HGNC:36548 RPS6P4 ribosomal protein S6 pseudogene 4 pseudogene pseudogene Approved 3q26.1 03q26.1 2009-03-06 2016-12-12 100131548 ENSG00000244571 OTTHUMG00000157334 NG_011139 19123937 PGOHUM00000299649 HGNC:36548 +HGNC:36242 RPS6P5 ribosomal protein S6 pseudogene 5 pseudogene pseudogene Approved 4q13.1 04q13.1 2009-03-06 2009-03-11 100130347 NG_010236 19123937 HGNC:36242 +HGNC:36092 RPS6P7 ribosomal protein S6 pseudogene 7 pseudogene pseudogene Approved 6q14.1 06q14.1 2009-03-06 2017-10-26 100128162 ENSG00000219253 OTTHUMG00000015067 NG_010850 19123937 PGOHUM00000301860 HGNC:36092 +HGNC:36999 RPS6P8 ribosomal protein S6 pseudogene 8 pseudogene pseudogene Approved 6q13 06q13 2009-03-06 2017-10-26 100128450 ENSG00000224221 OTTHUMG00000015021 NG_011004 19123937 PGOHUM00000301430 HGNC:36999 +HGNC:35938 RPS6P9 ribosomal protein S6 pseudogene 9 pseudogene pseudogene Approved 8q22.3 08q22.3 2009-03-06 2009-03-11 100131467 NG_010727 19123937 HGNC:35938 +HGNC:36730 RPS6P10 ribosomal protein S6 pseudogene 10 pseudogene pseudogene Approved 9p22.1 09p22.1 2009-03-06 2009-03-11 100270865 NG_010065 19123937 HGNC:36730 +HGNC:36270 RPS6P11 ribosomal protein S6 pseudogene 11 pseudogene pseudogene Approved 9p24 09p24 2009-03-06 2009-03-11 100270866 NG_010074 19123937 HGNC:36270 +HGNC:36375 RPS6P12 ribosomal protein S6 pseudogene 12 pseudogene pseudogene Approved 9q21.32 09q21.32 2009-03-06 2013-09-23 100270867 ENSG00000233309 OTTHUMG00000020099 NG_010080 19123937 PGOHUM00000236233 HGNC:36375 +HGNC:35772 RPS6P13 ribosomal protein S6 pseudogene 13 pseudogene pseudogene Approved 9q21.33 09q21.33 2009-03-06 2009-03-11 392358 NG_010868 19123937 HGNC:35772 +HGNC:36738 RPS6P14 ribosomal protein S6 pseudogene 14 pseudogene pseudogene Approved 10q11.22 10q11.22 2009-03-06 2016-08-17 100131396 ENSG00000225482 OTTHUMG00000018170 NG_010363 19123937 PGOHUM00000290152 HGNC:36738 +HGNC:36942 RPS6P15 ribosomal protein S6 pseudogene 15 pseudogene pseudogene Approved 10q25.2 10q25.2 2009-03-06 2016-08-16 100129732 ENSG00000230809 OTTHUMG00000019054 NG_011016 19123937 PGOHUM00000289991 HGNC:36942 +HGNC:35668 RPS6P16 ribosomal protein S6 pseudogene 16 pseudogene pseudogene Approved 11q23.1 11q23.1 2009-03-06 2017-10-30 100128923 ENSG00000243250 OTTHUMG00000158460 NG_010818 19123937 HGNC:35668 +HGNC:36669 RPS6P17 ribosomal protein S6 pseudogene 17 pseudogene pseudogene Approved 11q22.2 11q22.2 2009-03-06 2009-03-11 120318 NG_011320 19123937 HGNC:36669 +HGNC:36496 RPS6P18 ribosomal protein S6 pseudogene 18 pseudogene pseudogene Approved 12p13.3 12p13.3 2009-03-06 2009-03-11 100271135 NG_010164 19123937 HGNC:36496 +HGNC:36136 RPS6P19 ribosomal protein S6 pseudogene 19 pseudogene pseudogene Approved 12q23.2 12q23.2 2009-03-06 2009-03-11 100271136 NG_010169 19123937 HGNC:36136 +HGNC:36940 RPS6P20 ribosomal protein S6 pseudogene 20 pseudogene pseudogene Approved 12q24.33 12q24.33 2009-03-06 2017-10-30 100271262 ENSG00000226356 OTTHUMG00000157842 NG_010830 19123937 PGOHUM00000291498 HGNC:36940 +HGNC:36478 RPS6P21 ribosomal protein S6 pseudogene 21 pseudogene pseudogene Approved 12q24.33 12q24.33 2009-03-06 2017-10-30 100271263 ENSG00000243499 OTTHUMG00000168312 NG_010836 19123937 PGOHUM00000291836 HGNC:36478 +HGNC:35655 RPS6P22 ribosomal protein S6 pseudogene 22 pseudogene pseudogene Approved 12q14.1 12q14.1 2009-03-06 2017-10-26 100129227 ENSG00000244390 OTTHUMG00000157585 NG_011052 19123937 PGOHUM00000291696 HGNC:35655 +HGNC:39581 RPS6P23 ribosomal protein S6 pseudogene 23 pseudogene pseudogene Approved 13q32.3 13q32.3 2011-03-15 2011-03-15 100130313 ENSG00000230871 OTTHUMG00000017259 NG_009870 PGOHUM00000248672 HGNC:39581 +HGNC:36070 RPS6P24 ribosomal protein S6 pseudogene 24 pseudogene pseudogene Approved 14q12 14q12 2009-03-06 2009-03-11 100128358 NG_010528 19123937 HGNC:36070 +HGNC:35948 RPS6P25 ribosomal protein S6 pseudogene 25 pseudogene pseudogene Approved 19p13.13 19p13.13 2009-03-06 2015-07-22 729389 ENSG00000240616 OTTHUMG00000158022 NG_010244 19123937 PGOHUM00000295212 HGNC:35948 +HGNC:36713 RPS6P26 ribosomal protein S6 pseudogene 26 pseudogene pseudogene Approved Xq13.2 Xq13.2 2009-03-06 2020-05-15 392497 ENSG00000213269 NG_010262 19123937 HGNC:36713 +HGNC:10440 RPS7 ribosomal protein S7 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "S7|eS7" S ribosomal proteins 728 1997-07-07 2021-05-26 6201 ENSG00000171863 OTTHUMG00000090305 uc002qxw.4 NM_001011 CCDS1648 P62081 "8522193|10625621" MGI:1333818 RGD:61907 "Diamond-Blackfan Anemia|http://www.dbagenes.unito.it/home.php?select_db=RPS7|LRG_1148|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1148.xml" 603658 171050 HGNC:10440 "ENST00000645674.2|NM_001011.4" HGNC:10440 +HGNC:17081 RPS7P1 ribosomal protein S7 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 2009-03-01 2015-01-30 388363 ENSG00000263266 OTTHUMG00000132828 NG_005669 19123937 HGNC:17081 +HGNC:36079 RPS7P2 ribosomal protein S7 pseudogene 2 pseudogene pseudogene Approved 1q21.3 01q21.3 2009-03-06 2016-10-05 100270868 ENSG00000231837 OTTHUMG00000036513 NG_010085 19123937 PGOHUM00000245009 HGNC:36079 +HGNC:36518 RPS7P3 ribosomal protein S7 pseudogene 3 pseudogene pseudogene Approved 1q42.2 01q42.2 2009-03-06 2011-04-08 440732 ENSG00000231940 OTTHUMG00000037888 NG_009603 19123937 PGOHUM00000244480 HGNC:36518 +HGNC:36000 RPS7P4 ribosomal protein S7 pseudogene 4 pseudogene pseudogene Approved 1p31.3 01p31.3 2009-03-06 2011-04-08 149224 ENSG00000229133 OTTHUMG00000009206 NG_011195 19123937 PGOHUM00000244064 HGNC:36000 +HGNC:37037 RPS7P5 ribosomal protein S7 pseudogene 5 pseudogene pseudogene Approved 1q43 01q43 2009-03-06 2011-04-08 645884 ENSG00000217327 OTTHUMG00000039882 NG_011309 19123937 PGOHUM00000245271 HGNC:37037 +HGNC:36334 RPS7P6 ribosomal protein S7 pseudogene 6 pseudogene pseudogene Approved 4p15.32 04p15.32 2009-03-06 2016-10-05 100270869 ENSG00000215278 OTTHUMG00000157441 NG_010094 19123937 PGOHUM00000245475 HGNC:36334 +HGNC:35690 RPS7P7 ribosomal protein S7 pseudogene 7 pseudogene pseudogene Approved 4p13 04p13 2009-03-06 2011-04-08 100270870 ENSG00000240167 OTTHUMG00000157459 NG_010101 19123937 PGOHUM00000245891 HGNC:35690 +HGNC:35710 RPS7P8 ribosomal protein S7 pseudogene 8 pseudogene pseudogene Approved 6q16.1 06q16.1 2009-03-06 2011-04-08 442237 ENSG00000213183 OTTHUMG00000015240 NG_010648 19123937 PGOHUM00000243302 HGNC:35710 +HGNC:36998 RPS7P9 ribosomal protein S7 pseudogene 9 pseudogene pseudogene Approved 10q23.1 10q23.1 2009-03-06 2011-04-08 100128756 ENSG00000233353 OTTHUMG00000018619 NG_011267 19123937 PGOHUM00000238563 HGNC:36998 +HGNC:39903 RPS7P10 ribosomal protein S7 pseudogene 10 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-04-08 2014-11-19 100128060 ENSG00000226525 OTTHUMG00000016546 NG_009676 HGNC:39903 +HGNC:35841 RPS7P11 ribosomal protein S7 pseudogene 11 pseudogene pseudogene Approved 17q21.31 17q21.31 2009-03-06 2016-10-05 644315 ENSG00000213326 OTTHUMG00000157855 NG_011130 19123937 PGOHUM00000237095 HGNC:35841 +HGNC:36147 RPS7P12 ribosomal protein S7 pseudogene 12 pseudogene pseudogene Approved Xq26.3 Xq26.3 2009-03-06 2016-10-05 100270914 ENSG00000237432 OTTHUMG00000022460 NG_010350 19123937 PGOHUM00000242026 HGNC:36147 +HGNC:35756 RPS7P13 ribosomal protein S7 pseudogene 13 pseudogene pseudogene Approved Xq21.33 Xq21.33 2009-03-06 2011-04-08 100130435 ENSG00000235425 OTTHUMG00000021980 NG_010681 19123937 PGOHUM00000241453 HGNC:35756 +HGNC:36602 RPS7P14 ribosomal protein S7 pseudogene 14 pseudogene pseudogene Approved Xq13.2 Xq13.2 2009-03-06 2011-04-08 646108 ENSG00000213695 OTTHUMG00000021855 NG_011138 19123937 PGOHUM00000241855 HGNC:36602 +HGNC:48878 RPS7P15 ribosomal protein S7 pseudogene 15 pseudogene pseudogene Approved 4p16.2 04p16.2 2013-06-15 2013-06-21 728015 ENSG00000237170 OTTHUMG00000159924 NG_030264 PGOHUM00000250748 HGNC:48878 +HGNC:10441 RPS8 ribosomal protein S8 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 S8 "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1992-07-20 2016-10-05 6202 ENSG00000142937 OTTHUMG00000008494 uc001cmi.4 BC070875 NM_001012 CCDS513 P62241 8432552 MGI:98166 RGD:61910 600357 HGNC:10441 "ENST00000396651.8|NM_001012.2" +HGNC:19789 RPS8P1 ribosomal protein S8 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 2009-03-01 2014-11-19 192133 NG_002574 19123937 HGNC:19789 +HGNC:31000 RPS8P3 ribosomal protein S8 pseudogene 3 pseudogene pseudogene Approved 18q21.2 18q21.2 HsT2707 2009-03-01 2017-10-26 100132995 ENSG00000215457 OTTHUMG00000158249 NG_010683 19123937 PGOHUM00000294665 HGNC:31000 +HGNC:17478 RPS8P4 ribosomal protein S8 pseudogene 4 pseudogene pseudogene Approved 10q26.11 10q26.11 Em:AC012468.5 2009-03-01 2016-08-16 646119 ENSG00000227437 OTTHUMG00000019153 NG_009795 19123937 PGOHUM00000290298 HGNC:17478 +HGNC:36417 RPS8P5 ribosomal protein S8 pseudogene 5 pseudogene pseudogene Approved 3p14.3 03p14.3 2009-03-06 2009-03-11 100131083 NG_010028 19123937 HGNC:36417 +HGNC:36947 RPS8P6 ribosomal protein S8 pseudogene 6 pseudogene pseudogene Approved 3p26.3 03p26.3 2009-03-06 2011-07-27 100270871 ENSG00000231660 OTTHUMG00000157085 NG_010107 19123937 PGOHUM00000237517 HGNC:36947 +HGNC:35795 RPS8P7 ribosomal protein S8 pseudogene 7 pseudogene pseudogene Approved 5q35.3 05q35.3 2009-03-06 2009-03-11 646093 NG_011062 19123937 HGNC:35795 +HGNC:36213 RPS8P8 ribosomal protein S8 pseudogene 8 pseudogene pseudogene Approved 5p13.3 05p13.3 2009-03-06 2009-03-11 728553 NG_011203 19123937 HGNC:36213 +HGNC:35524 RPS8P9 ribosomal protein S8 pseudogene 9 pseudogene pseudogene Approved 9p13.3 09p13.3 2009-03-06 2009-03-11 100130750 NG_010982 19123937 HGNC:35524 +HGNC:35628 RPS8P10 ribosomal protein S8 pseudogene 10 pseudogene pseudogene Approved 15q11.2 15q11.2 2009-03-06 2015-08-20 388076 ENSG00000223877 OTTHUMG00000172789 NG_011225 19123937 PGOHUM00000292828 HGNC:35628 +HGNC:10442 RPS9 ribosomal protein S9 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 S9 40S ribosomal protein S9 S ribosomal proteins 728 1997-07-07 2016-10-05 6203 ENSG00000170889 OTTHUMG00000066618 uc002qdx.4 U14971 NM_001013 "CCDS12884|CCDS82397" P46781 "7772601|9582194" MGI:1924096 RGD:619889 603631 HGNC:10442 "ENST00000302907.9|NM_001013.4" +HGNC:10443 RPS9P1 ribosomal protein S9 pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 RPS9P ribosomal protein S9 pseudogene 2009-03-01 2001-12-14 2001-12-07 2016-10-05 8410 ENSG00000214889 OTTHUMG00000086609 NG_003259 "9740676|19123937" PGOHUM00000239171 HGNC:10443 +HGNC:19428 RPS9P2 ribosomal protein S9 pseudogene 2 pseudogene pseudogene Approved 22q13.2 22q13.2 bA12M9.1 2009-03-01 2014-11-19 267009 NG_002404 19123937 HGNC:19428 +HGNC:36635 RPS9P3 ribosomal protein S9 pseudogene 3 pseudogene pseudogene Approved 5q21.1 05q21.1 2009-03-06 2009-03-11 100133054 NG_010983 19123937 HGNC:36635 +HGNC:36710 RPS9P4 ribosomal protein S9 pseudogene 4 pseudogene pseudogene Approved 19q13.33 19q13.33 2009-03-06 2009-03-11 388556 NG_009020 19123937 HGNC:36710 +HGNC:10383 RPS10 ribosomal protein S10 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "MGC88819|S10" S ribosomal proteins 728 1997-07-07 2021-05-26 6204 ENSG00000124614 OTTHUMG00000014546 uc003ojn.3 U14972 NM_001014 CCDS4792 P46783 "7772601|9582194" MGI:1914347 RGD:621024 LRG_1138|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1138.xml 603632 225334 HGNC:10383 "ENST00000648437.1|NM_001014.5" HGNC:10383 +HGNC:49181 RPS10-NUDT3 RPS10-NUDT3 readthrough other readthrough Approved 6p21.31 06p21.31 2013-09-25 2013-09-25 100529239 ENSG00000270800 OTTHUMG00000185089 NM_001202470 RGD:2320523 HGNC:49181 +HGNC:13981 RPS10P1 ribosomal protein S10 pseudogene 1 pseudogene pseudogene Approved 6p21 06p21 "RPS10p|dJ34B20.13" 2009-03-01 2014-11-19 394255 NG_009560 19123937 HGNC:13981 +HGNC:16594 RPS10P2 ribosomal protein S10 pseudogene 2 pseudogene pseudogene Approved 20p12.1 20p12.1 dJ858M22.1 2009-03-01 2016-07-25 140758 ENSG00000213950 OTTHUMG00000031918 NG_001001 19123937 PGOHUM00000297057 HGNC:16594 +HGNC:23684 RPS10P3 ribosomal protein S10 pseudogene 3 pseudogene pseudogene Approved 9q22.1 09q22.1 2009-03-01 2014-11-18 158104 ENSG00000217716 OTTHUMG00000020159 NG_009716 19123937 HGNC:23684 +HGNC:31364 RPS10P4 ribosomal protein S10 pseudogene 4 pseudogene pseudogene Approved 3q13.31 03q13.31 bcm1851 2009-03-01 2014-11-19 728791 AC079944 NG_009545 19123937 HGNC:31364 +HGNC:15795 RPS10P5 ribosomal protein S10 pseudogene 5 pseudogene pseudogene Approved 20p13 20p13 bA371L19.2 RPS10L ribosomal protein S10-like 2009-03-01 2009-01-23 2009-01-23 2016-07-22 93144 ENSG00000101278 OTTHUMG00000031646 AL118502 NG_000952 Q9NQ39 19123937 MGI:1914347 PGOHUM00000296873 HGNC:15795 +HGNC:35765 RPS10P6 ribosomal protein S10 pseudogene 6 pseudogene pseudogene Approved 1q21.3 01q21.3 2009-03-06 2009-03-11 729374 NG_010156 19123937 HGNC:35765 +HGNC:36423 RPS10P7 ribosomal protein S10 pseudogene 7 pseudogene pseudogene Approved 1q32.1 01q32.1 lnc-MCEI lncRNA mediated the chemosensitivity of ESCC by regulating IGF2 2009-03-06 2020-11-09 376693 ENSG00000223396 NR_026667 "19123937|33061807" HGNC:36423 +HGNC:36606 RPS10P8 ribosomal protein S10 pseudogene 8 pseudogene pseudogene Approved 1q23.1 01q23.1 2009-03-06 2009-03-11 729780 NG_010935 19123937 HGNC:36606 +HGNC:36451 RPS10P9 ribosomal protein S10 pseudogene 9 pseudogene pseudogene Approved 2p14 02p14 2009-03-06 2019-12-20 730187 ENSG00000227791 NG_010404 19123937 HGNC:36451 +HGNC:37034 RPS10P10 ribosomal protein S10 pseudogene 10 pseudogene pseudogene Approved 3p14.2 03p14.2 2009-03-06 2009-03-11 389127 NG_010006 19123937 HGNC:37034 +HGNC:36775 RPS10P11 ribosomal protein S10 pseudogene 11 pseudogene pseudogene Approved 5q31.1 05q31.1 2009-03-06 2009-03-11 391833 NG_010811 19123937 HGNC:36775 +HGNC:36662 RPS10P12 ribosomal protein S10 pseudogene 12 pseudogene pseudogene Approved 5q11.2 05q11.2 2009-03-06 2009-03-11 133569 NG_011000 19123937 HGNC:36662 +HGNC:36374 RPS10P13 ribosomal protein S10 pseudogene 13 pseudogene pseudogene Approved 6p21.31 06p21.31 2009-03-06 2009-03-11 646785 NG_010670 19123937 HGNC:36374 +HGNC:35880 RPS10P14 ribosomal protein S10 pseudogene 14 pseudogene pseudogene Approved 7p14.1 07p14.1 2009-03-06 2011-12-12 646942 ENSG00000213744 OTTHUMG00000154987 NG_009425 19123937 PGOHUM00000233187 HGNC:35880 +HGNC:35860 RPS10P15 ribosomal protein S10 pseudogene 15 pseudogene pseudogene Approved 7q32.1 07q32.1 2009-03-06 2009-03-11 654029 NG_011064 19123937 HGNC:35860 +HGNC:36200 RPS10P16 ribosomal protein S10 pseudogene 16 pseudogene pseudogene Approved 8q24.11 08q24.11 2009-03-06 2016-08-17 100271050 ENSG00000239917 OTTHUMG00000158690 NG_011043 19123937 PGOHUM00000303363 HGNC:36200 +HGNC:35562 RPS10P17 ribosomal protein S10 pseudogene 17 pseudogene pseudogene Approved 9q33.3 09q33.3 2009-03-06 2009-03-11 645857 NG_011162 19123937 HGNC:35562 +HGNC:36239 RPS10P18 ribosomal protein S10 pseudogene 18 pseudogene pseudogene Approved 10q26.13 10q26.13 2009-03-06 2016-08-17 100271349 ENSG00000229455 OTTHUMG00000019212 NG_011271 19123937 PGOHUM00000290011 HGNC:36239 +HGNC:35907 RPS10P19 ribosomal protein S10 pseudogene 19 pseudogene pseudogene Approved 11p11.2 11p11.2 2009-03-06 2009-03-11 100271350 NG_011275 19123937 HGNC:35907 +HGNC:35829 RPS10P20 ribosomal protein S10 pseudogene 20 pseudogene pseudogene Approved 12q13.11 12q13.11 2009-03-06 2016-10-05 100271547 ENSG00000240443 OTTHUMG00000157558 NG_010964 19123937 PGOHUM00000239764 HGNC:35829 +HGNC:35906 RPS10P21 ribosomal protein S10 pseudogene 21 pseudogene pseudogene Approved 13q21.33 13q21.33 2009-03-06 2011-01-11 100271351 ENSG00000232881 OTTHUMG00000017065 NG_011279 19123937 PGOHUM00000249948 HGNC:35906 +HGNC:35814 RPS10P22 ribosomal protein S10 pseudogene 22 pseudogene pseudogene Approved 15q22.2 15q22.2 2009-03-06 2009-03-11 401817 NG_010809 19123937 HGNC:35814 +HGNC:36657 RPS10P23 ribosomal protein S10 pseudogene 23 pseudogene pseudogene Approved 16q22.3 16q22.3 2009-03-06 2009-03-11 645713 NG_011365 19123937 HGNC:36657 +HGNC:35989 RPS10P24 ribosomal protein S10 pseudogene 24 pseudogene pseudogene Approved 16q22.1 16q22.1 2009-03-06 2009-03-11 645299 NG_009469 19123937 HGNC:35989 +HGNC:36532 RPS10P25 ribosomal protein S10 pseudogene 25 pseudogene pseudogene Approved 17q21 17q21 2009-03-06 2009-03-11 100271546 NG_010960 19123937 HGNC:36532 +HGNC:36321 RPS10P26 ribosomal protein S10 pseudogene 26 pseudogene pseudogene Approved 17q23 17q23 2009-03-06 2009-03-11 100271548 NG_010969 19123937 HGNC:36321 +HGNC:36850 RPS10P27 ribosomal protein S10 pseudogene 27 pseudogene pseudogene Approved 18q11.2 18q11.2 2009-03-06 2017-10-30 100129556 ENSG00000267752 OTTHUMG00000158182 NG_010092 19123937 PGOHUM00000294625 HGNC:36850 +HGNC:35511 RPS10P28 ribosomal protein S10 pseudogene 28 pseudogene pseudogene Approved 19q13.2 19q13.2 2009-03-06 2016-07-25 100132372 ENSG00000243167 OTTHUMG00000158201 NG_010093 19123937 PGOHUM00000295383 HGNC:35511 +HGNC:37120 RPS10P29 ribosomal protein S10 pseudogene 29 pseudogene pseudogene Approved 22q11.23 22q11.23 2009-07-09 2009-07-09 388885 NG_009906 HGNC:37120 +HGNC:35593 RPS10P30 ribosomal protein S10 pseudogene 30 pseudogene pseudogene Approved 22q11.23 22q11.23 2009-03-06 2009-03-11 343851 NG_010234 19123937 HGNC:35593 +HGNC:35998 RPS10P31 ribosomal protein S10 pseudogene 31 pseudogene pseudogene Approved 22q13.31 22q13.31 2009-03-06 2009-03-11 100129939 NG_010775 19123937 HGNC:35998 +HGNC:10384 RPS11 ribosomal protein S11 protein-coding gene gene with protein product Approved 19q13.3 19q13.3 S11 40S ribosomal protein S11 "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1990-07-03 2014-11-18 6205 ENSG00000142534 OTTHUMG00000183156 uc002pob.3 AB007152 NM_001015 CCDS12769 P62280 "1577483|9582194" MGI:1351329 RGD:621026 180471 HGNC:10384 "ENST00000270625.7|NM_001015.5" +HGNC:16553 RPS11P1 ribosomal protein S11 pseudogene 1 pseudogene pseudogene Approved 20p12.2 20p12.2 dJ1060K6.1 2009-03-01 2016-07-25 128718 ENSG00000235544 OTTHUMG00000031884 NG_000972 19123937 PGOHUM00000296899 HGNC:16553 +HGNC:37007 RPS11P2 ribosomal protein S11 pseudogene 2 pseudogene pseudogene Approved 1q43 01q43 2009-03-06 2009-03-11 645916 NG_010147 19123937 HGNC:37007 +HGNC:35870 RPS11P3 ribosomal protein S11 pseudogene 3 pseudogene pseudogene Approved 1q21 01q21 2009-03-06 2009-03-11 100270898 NG_010264 19123937 HGNC:35870 +HGNC:35644 RPS11P4 ribosomal protein S11 pseudogene 4 pseudogene pseudogene Approved 9p21.1 09p21.1 2009-03-06 2009-03-11 100271052 NG_011054 19123937 HGNC:35644 +HGNC:36312 RPS11P5 ribosomal protein S11 pseudogene 5 pseudogene pseudogene Approved 12q24.33 12q24.33 2009-03-06 2017-10-30 727826 ENSG00000232888 OTTHUMG00000168024 NG_009555 19123937 PGOHUM00000291838 HGNC:36312 +HGNC:36693 RPS11P6 ribosomal protein S11 pseudogene 6 pseudogene pseudogene Approved 12q14.2 12q14.2 2009-03-06 2009-03-11 729258 OTTHUMG00000157605 NG_010888 19123937 HGNC:36693 +HGNC:36724 RPS11P7 ribosomal protein S11 pseudogene 7 pseudogene pseudogene Approved Xp11.4 Xp11.4 2009-03-06 2011-09-20 642687 ENSG00000214047 OTTHUMG00000021364 NG_011374 19123937 PGOHUM00000241715 HGNC:36724 +HGNC:10385 RPS12 ribosomal protein S12 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 S12 "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1991-12-02 2016-10-05 6206 ENSG00000112306 OTTHUMG00000015593 uc003qdx.4 X53505 NM_001016 CCDS5164 P25398 "1861993|9582194" MGI:98105 RGD:62024 603660 HGNC:10385 "ENST00000230050.4|NM_001016.4" +HGNC:19787 RPS12P1 ribosomal protein S12 pseudogene 1 pseudogene pseudogene Approved 14q24.2 14q24.2 2009-03-01 2014-11-19 326312 NG_002564 19123937 HGNC:19787 +HGNC:24221 RPS12P2 ribosomal protein S12 pseudogene 2 pseudogene pseudogene Approved 10q22.3 10q22.3 bA40F6.3 2009-03-01 2014-11-19 619448 ENSG00000234319 OTTHUMG00000018606 NG_009566 19123937 PGOHUM00000238561 HGNC:24221 +HGNC:35500 RPS12P3 ribosomal protein S12 pseudogene 3 pseudogene pseudogene Approved 2p16.1 02p16.1 2009-03-06 2019-10-16 344423 ENSG00000232713 NG_010533 19123937 HGNC:35500 +HGNC:35670 RPS12P4 ribosomal protein S12 pseudogene 4 pseudogene pseudogene Approved 2p21 02p21 2009-03-06 2019-10-17 391370 ENSG00000236533 NG_011048 19123937 HGNC:35670 +HGNC:36525 RPS12P5 ribosomal protein S12 pseudogene 5 pseudogene pseudogene Approved 3p24.1 03p24.1 2009-03-06 2011-04-20 100271053 ENSG00000226216 OTTHUMG00000155733 NG_011058 19123937 PGOHUM00000237975 HGNC:36525 +HGNC:35790 RPS12P6 ribosomal protein S12 pseudogene 6 pseudogene pseudogene Approved 3p12 03p12 2009-03-06 2009-03-11 100271054 NG_011065 19123937 HGNC:35790 +HGNC:36699 RPS12P7 ribosomal protein S12 pseudogene 7 pseudogene pseudogene Approved 3q25.1 03q25.1 2009-03-06 2009-03-11 100271055 NG_011071 19123937 HGNC:36699 +HGNC:35945 RPS12P8 ribosomal protein S12 pseudogene 8 pseudogene pseudogene Approved 4q25 04q25 2009-03-06 2009-03-11 402184 NG_010010 19123937 HGNC:35945 +HGNC:36719 RPS12P9 ribosomal protein S12 pseudogene 9 pseudogene pseudogene Approved 4q13.1 04q13.1 2009-03-06 2009-03-11 727997 NG_007430 19123937 HGNC:36719 +HGNC:35824 RPS12P10 ribosomal protein S12 pseudogene 10 pseudogene pseudogene Approved 5q31.3 05q31.3 2009-03-06 2013-09-23 100271056 ENSG00000225147 OTTHUMG00000102185 NG_011078 19123937 PGOHUM00000235799 HGNC:35824 +HGNC:36042 RPS12P11 ribosomal protein S12 pseudogene 11 pseudogene pseudogene Approved 6q25.1 06q25.1 2009-03-06 2009-03-11 442270 NG_010833 19123937 HGNC:36042 +HGNC:36235 RPS12P12 ribosomal protein S12 pseudogene 12 pseudogene pseudogene Approved 6p22.3 06p22.3 2009-03-06 2009-03-11 100131761 NG_010922 19123937 HGNC:36235 +HGNC:36549 RPS12P13 ribosomal protein S12 pseudogene 13 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2009-03-11 100271057 NG_011081 19123937 HGNC:36549 +HGNC:35632 RPS12P14 ribosomal protein S12 pseudogene 14 pseudogene pseudogene Approved 6p12 06p12 2009-03-06 2009-03-11 100271058 NG_011085 19123937 HGNC:35632 +HGNC:35610 RPS12P15 ribosomal protein S12 pseudogene 15 pseudogene pseudogene Approved 8q22.3 08q22.3 2009-03-06 2017-10-30 100271059 ENSG00000240724 OTTHUMG00000158675 NG_011090 19123937 PGOHUM00000303642 HGNC:35610 +HGNC:36595 RPS12P16 ribosomal protein S12 pseudogene 16 pseudogene pseudogene Approved 10p11.21 10p11.21 2009-03-06 2016-08-17 100271352 ENSG00000215184 OTTHUMG00000017944 NG_011286 19123937 PGOHUM00000289792 HGNC:36595 +HGNC:35705 RPS12P17 ribosomal protein S12 pseudogene 17 pseudogene pseudogene Approved 10q22.1 10q22.1 2009-03-06 2016-08-16 100271353 ENSG00000233163 OTTHUMG00000018368 NG_011290 19123937 PGOHUM00000289887 HGNC:35705 +HGNC:36421 RPS12P18 ribosomal protein S12 pseudogene 18 pseudogene pseudogene Approved 10q22.3 10q22.3 2009-03-06 2016-08-17 100271354 ENSG00000232965 OTTHUMG00000018567 NG_011294 19123937 PGOHUM00000290214 HGNC:36421 +HGNC:36187 RPS12P20 ribosomal protein S12 pseudogene 20 pseudogene pseudogene Approved 11q13.4 11q13.4 2009-03-06 2011-04-20 100271549 ENSG00000244134 OTTHUMG00000158404 NG_010973 19123937 PGOHUM00000242794 HGNC:36187 +HGNC:36464 RPS12P21 ribosomal protein S12 pseudogene 21 pseudogene pseudogene Approved 11q23.1 11q23.1 2009-03-06 2017-10-30 100271550 ENSG00000243930 OTTHUMG00000167158 NG_010980 19123937 HGNC:36464 +HGNC:35671 RPS12P22 ribosomal protein S12 pseudogene 22 pseudogene pseudogene Approved 11q13.4 11q13.4 2009-03-06 2009-03-11 440055 NG_011284 19123937 HGNC:35671 +HGNC:35573 RPS12P23 ribosomal protein S12 pseudogene 23 pseudogene pseudogene Approved 13q12.11 13q12.11 2009-03-06 2010-11-24 338870 ENSG00000180172 OTTHUMG00000016529 NG_010945 19123937 PGOHUM00000248320 HGNC:35573 +HGNC:35561 RPS12P24 ribosomal protein S12 pseudogene 24 pseudogene pseudogene Approved 13q13.3 13q13.3 2009-03-06 2014-11-19 100271551 ENSG00000230283 OTTHUMG00000016749 NG_010988 19123937 HGNC:35561 +HGNC:36019 RPS12P25 ribosomal protein S12 pseudogene 25 pseudogene pseudogene Approved 15q25.1 15q25.1 2009-03-06 2009-03-11 646985 NG_010393 19123937 HGNC:36019 +HGNC:36320 RPS12P26 ribosomal protein S12 pseudogene 26 pseudogene pseudogene Approved 15q26.1 15q26.1 2009-03-06 2017-10-30 100130495 ENSG00000225193 OTTHUMG00000158056 NG_010991 19123937 PGOHUM00000293353 HGNC:36320 +HGNC:35892 RPS12P27 ribosomal protein S12 pseudogene 27 pseudogene pseudogene Approved 16q22.1 16q22.1 2009-03-06 2017-10-30 100271552 ENSG00000240435 OTTHUMG00000158181 NG_010994 19123937 PGOHUM00000293891 HGNC:35892 +HGNC:36972 RPS12P28 ribosomal protein S12 pseudogene 28 pseudogene pseudogene Approved 17q11.2 17q11.2 2009-03-06 2017-10-30 100271553 ENSG00000240494 OTTHUMG00000157763 NG_010999 19123937 PGOHUM00000294372 HGNC:36972 +HGNC:36206 RPS12P29 ribosomal protein S12 pseudogene 29 pseudogene pseudogene Approved 17p13.2 17p13.2 2009-03-06 2009-03-11 728244 NG_010933 19123937 HGNC:36206 +HGNC:36813 RPS12P30 ribosomal protein S12 pseudogene 30 pseudogene pseudogene Approved 17q22 17q22 2009-03-06 2009-03-11 100271555 NG_011007 19123937 HGNC:36813 +HGNC:35578 RPS12P31 ribosomal protein S12 pseudogene 31 pseudogene pseudogene Approved 19q13.11 19q13.11 2009-03-06 2016-07-25 100130192 ENSG00000242325 OTTHUMG00000158146 NG_010757 19123937 PGOHUM00000295330 HGNC:35578 +HGNC:35571 RPS12P32 ribosomal protein S12 pseudogene 32 pseudogene pseudogene Approved 19p13.2 19p13.2 2009-03-06 2009-03-11 100271556 NG_011015 19123937 HGNC:35571 +HGNC:10386 RPS13 ribosomal protein S13 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 S13 40S ribosomal protein S13 "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1993-11-05 2016-10-05 6207 ENSG00000110700 OTTHUMG00000165988 uc001mmp.4 X79239 NM_001017 CCDS7823 P62277 "8332508|9582194" MGI:1915302 RGD:621027 180476 HGNC:10386 "ENST00000525634.6|NM_001017.3" +HGNC:36309 RPS13P1 ribosomal protein S13 pseudogene 1 pseudogene pseudogene Approved 1q24.1 01q24.1 2009-03-06 2009-03-11 100128305 NG_010259 19123937 HGNC:36309 +HGNC:36364 RPS13P2 ribosomal protein S13 pseudogene 2 pseudogene pseudogene Approved 1p32.3 01p32.3 2009-03-06 2014-04-24 729236 ENSG00000228929 OTTHUMG00000008921 NG_009715 19123937 PGOHUM00000244031 HGNC:36364 +HGNC:36866 RPS13P3 ribosomal protein S13 pseudogene 3 pseudogene pseudogene Approved 2p21 02p21 2009-03-06 2019-11-08 100129718 ENSG00000236913 NG_010948 19123937 HGNC:36866 +HGNC:35731 RPS13P4 ribosomal protein S13 pseudogene 4 pseudogene pseudogene Approved 2p23.3 02p23.3 2009-03-06 2019-11-28 100271060 ENSG00000238111 NG_011093 19123937 HGNC:35731 +HGNC:36610 RPS13P5 ribosomal protein S13 pseudogene 5 pseudogene pseudogene Approved 2p23.3 02p23.3 2009-03-06 2019-10-11 100271061 ENSG00000237953 NG_011097 19123937 HGNC:36610 +HGNC:35653 RPS13P6 ribosomal protein S13 pseudogene 6 pseudogene pseudogene Approved 5q31 05q31 2009-03-06 2009-03-11 100271062 NG_011104 19123937 HGNC:35653 +HGNC:36310 RPS13P7 ribosomal protein S13 pseudogene 7 pseudogene pseudogene Approved 15q21.3 15q21.3 2009-03-06 2009-03-11 645918 NG_011355 19123937 HGNC:36310 +HGNC:36400 RPS13P8 ribosomal protein S13 pseudogene 8 pseudogene pseudogene Approved 15q21.2 15q21.2 2009-03-06 2009-03-11 645630 NG_011321 19123937 HGNC:36400 +HGNC:10387 RPS14 ribosomal protein S14 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "EMTB|S14" "emetine resistance|40S ribosomal protein S14" S ribosomal proteins 728 2001-06-22 2021-04-13 6208 ENSG00000164587 OTTHUMG00000130080 uc003lsi.4 NM_001025071 CCDS4307 P62263 "3785212|1549121" MGI:98107 RGD:62025 LRG_1139|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1139.xml 130620 168342 HGNC:10387 "ENST00000407193.7|NM_005617.4" +HGNC:35572 RPS14P1 ribosomal protein S14 pseudogene 1 pseudogene pseudogene Approved 1q32 01q32 2009-03-06 2009-03-11 100271063 NG_011111 19123937 HGNC:35572 +HGNC:36080 RPS14P2 ribosomal protein S14 pseudogene 2 pseudogene pseudogene Approved 1q24 01q24 2009-03-06 2009-03-11 100271064 NG_011116 19123937 HGNC:36080 +HGNC:35797 RPS14P3 ribosomal protein S14 pseudogene 3 pseudogene pseudogene Approved 1p36.13 01p36.13 2009-03-06 2009-03-11 644068 NG_011176 19123937 HGNC:35797 +HGNC:36419 RPS14P4 ribosomal protein S14 pseudogene 4 pseudogene pseudogene Approved 2q13 02q13 2009-03-06 2013-07-02 100132382 ENSG00000226928 OTTHUMG00000153699 NG_010162 19123937 PGOHUM00000240255 HGNC:36419 +HGNC:36087 RPS14P5 ribosomal protein S14 pseudogene 5 pseudogene pseudogene Approved 2p11.2 02p11.2 2009-03-06 2019-10-16 100133255 ENSG00000225933 NG_010706 19123937 HGNC:36087 +HGNC:36241 RPS14P6 ribosomal protein S14 pseudogene 6 pseudogene pseudogene Approved 4q31.3 04q31.3 2009-03-06 2009-03-11 646737 NG_010435 19123937 HGNC:36241 +HGNC:36961 RPS14P7 ribosomal protein S14 pseudogene 7 pseudogene pseudogene Approved 4q32.2 04q32.2 2009-03-06 2016-10-05 100271065 ENSG00000242635 OTTHUMG00000157592 NG_011119 19123937 PGOHUM00000246121 HGNC:36961 +HGNC:37027 RPS14P8 ribosomal protein S14 pseudogene 8 pseudogene pseudogene Approved 5q23.1 05q23.1 2009-03-06 2014-07-29 644146 ENSG00000239528 OTTHUMG00000157827 NG_010268 19123937 PGOHUM00000301097 HGNC:37027 +HGNC:36286 RPS14P9 ribosomal protein S14 pseudogene 9 pseudogene pseudogene Approved 6q15 06q15 2009-03-06 2009-03-11 644119 NG_009572 19123937 HGNC:36286 +HGNC:35517 RPS14P10 ribosomal protein S14 pseudogene 10 pseudogene pseudogene Approved 7q32.3 07q32.3 2009-03-06 2009-03-11 647034 NG_006544 19123937 HGNC:35517 +HGNC:10388 RPS15 ribosomal protein S15 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "RIG|MGC111130|S15" "40S ribosomal protein S15|homolog of rat insulinoma|insulinoma protein" S ribosomal proteins 728 1992-04-16 2014-11-19 6209 ENSG00000115268 OTTHUMG00000140099 uc060rbb.1 NM_001018 "CCDS77210|CCDS12067" P62841 2159154 MGI:98117 RGD:62026 180535 451578 HGNC:10388 "ENST00000592588.7|NM_001018.5" +HGNC:10389 RPS15A ribosomal protein S15a protein-coding gene gene with protein product Approved 16p12.3 16p12.3 S15A S ribosomal proteins 728 1998-08-18 2014-11-18 6210 ENSG00000134419 OTTHUMG00000131365 uc002dfh.2 AB007154 NM_001019 CCDS10571 P62244 9582194 MGI:2389091 RGD:619939 603674 HGNC:10389 "ENST00000322989.8|NM_001019.5" HGNC:10389 +HGNC:16598 RPS15AP1 ribosomal protein S15a pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 dJ872K7.6 2009-03-01 2014-11-19 92682 ENSG00000214535 OTTHUMG00000032016 NG_000951 19123937 PGOHUM00000247461 HGNC:16598 +HGNC:19671 RPS15AP2 ribosomal protein S15a pseudogene 2 pseudogene pseudogene Approved 14q22.1 14q22.1 2009-03-01 2014-11-19 326316 NG_002566 19123937 HGNC:19671 +HGNC:19674 RPS15AP3 ribosomal protein S15a pseudogene 3 pseudogene pseudogene Approved 14q21.3 14q21.3 2009-03-01 2017-10-30 326317 ENSG00000214903 OTTHUMG00000157887 NG_002567 19123937 PGOHUM00000292346 HGNC:19674 +HGNC:23559 RPS15AP4 ribosomal protein S15a pseudogene 4 pseudogene pseudogene Approved 14q23.1 14q23.1 2009-03-01 2014-11-19 654371 AL049874 NG_009527 19123937 HGNC:23559 +HGNC:23743 RPS15AP5 ribosomal protein S15a pseudogene 5 pseudogene pseudogene Approved 10q26.13 10q26.13 Em:AC025947.3 2009-03-01 2014-11-19 414230 ENSG00000223540 OTTHUMG00000019176 NG_009526 19123937 PGOHUM00000238942 HGNC:23743 +HGNC:35657 RPS15AP6 ribosomal protein S15a pseudogene 6 pseudogene pseudogene Approved 1p36.12 01p36.12 2009-03-06 2013-07-31 100271141 ENSG00000233072 OTTHUMG00000002778 NG_010197 19123937 PGOHUM00000243925 HGNC:35657 +HGNC:35648 RPS15AP7 ribosomal protein S15a pseudogene 7 pseudogene pseudogene Approved 1p31.3 01p31.3 2009-03-06 2013-07-31 100271142 ENSG00000234088 OTTHUMG00000008912 NG_010203 19123937 PGOHUM00000244741 HGNC:35648 +HGNC:36887 RPS15AP8 ribosomal protein S15a pseudogene 8 pseudogene pseudogene Approved 1p34.2 01p34.2 2009-03-06 2009-03-11 100271143 NG_010208 19123937 HGNC:36887 +HGNC:36164 RPS15AP9 ribosomal protein S15a pseudogene 9 pseudogene pseudogene Approved 1p13.1 01p13.1 2009-03-06 2013-07-31 441898 ENSG00000228453 OTTHUMG00000012117 NG_006958 19123937 PGOHUM00000244867 HGNC:36164 +HGNC:37001 RPS15AP10 ribosomal protein S15a pseudogene 10 pseudogene pseudogene Approved 1p34.1 01p34.1 2009-03-06 2011-09-30 728963 ENSG00000225447 OTTHUMG00000040992 NR_026768 19123937 PGOHUM00000244002 HGNC:37001 +HGNC:36707 RPS15AP11 ribosomal protein S15a pseudogene 11 pseudogene pseudogene Approved 1p34.1 01p34.1 2009-03-06 2013-07-31 644790 ENSG00000234093 OTTHUMG00000008492 NG_010947 19123937 PGOHUM00000243997 HGNC:36707 +HGNC:36759 RPS15AP12 ribosomal protein S15a pseudogene 12 pseudogene pseudogene Approved 1q41 01q41 2009-03-06 2013-07-31 100129243 ENSG00000232134 OTTHUMG00000037437 NG_011132 19123937 PGOHUM00000244425 HGNC:36759 +HGNC:36774 RPS15AP13 ribosomal protein S15a pseudogene 13 pseudogene pseudogene Approved 2p13.2 02p13.2 2009-03-06 2019-11-08 100128605 ENSG00000228568 NG_010488 19123937 HGNC:36774 +HGNC:36629 RPS15AP14 ribosomal protein S15a pseudogene 14 pseudogene pseudogene Approved 2q31.1 02q31.1 2009-03-06 2019-12-18 100127924 ENSG00000233131 NG_009584 19123937 HGNC:36629 +HGNC:35640 RPS15AP15 ribosomal protein S15a pseudogene 15 pseudogene pseudogene Approved 2p14 02p14 2009-03-06 2020-01-08 100130782 ENSG00000223739 NG_011150 19123937 HGNC:35640 +HGNC:36764 RPS15AP16 ribosomal protein S15a pseudogene 16 pseudogene pseudogene Approved 3q21.3 03q21.3 2009-03-06 2017-10-30 100271358 ENSG00000239483 OTTHUMG00000157372 NG_011319 19123937 PGOHUM00000299163 HGNC:36764 +HGNC:36888 RPS15AP17 ribosomal protein S15a pseudogene 17 pseudogene pseudogene Approved 4q13.1 04q13.1 2009-03-06 2014-05-22 391656 ENSG00000225405 OTTHUMG00000157485 NG_011197 19123937 PGOHUM00000250713 HGNC:36888 +HGNC:36524 RPS15AP18 ribosomal protein S15a pseudogene 18 pseudogene pseudogene Approved 5q35.3 05q35.3 2009-03-06 2017-10-30 100271360 ENSG00000242979 OTTHUMG00000157956 NG_009955 19123937 PGOHUM00000300845 HGNC:36524 +HGNC:36603 RPS15AP19 ribosomal protein S15a pseudogene 19 pseudogene pseudogene Approved 6p21.31 06p21.31 2009-03-06 2009-03-11 646819 NG_010854 19123937 HGNC:36603 +HGNC:36391 RPS15AP20 ribosomal protein S15a pseudogene 20 pseudogene pseudogene Approved 6p12.2 06p12.2 2009-03-06 2009-03-11 647155 NG_011260 19123937 HGNC:36391 +HGNC:36142 RPS15AP21 ribosomal protein S15a pseudogene 21 pseudogene pseudogene Approved 6q22.31 06q22.31 2009-03-06 2009-03-11 100271357 NG_011313 19123937 HGNC:36142 +HGNC:36305 RPS15AP22 ribosomal protein S15a pseudogene 22 pseudogene pseudogene Approved 7q32.3 07q32.3 2009-03-06 2009-03-11 100271557 NG_011019 19123937 HGNC:36305 +HGNC:36718 RPS15AP23 ribosomal protein S15a pseudogene 23 pseudogene pseudogene Approved 7q31 07q31 2009-03-06 2009-03-11 100271558 NG_011024 19123937 HGNC:36718 +HGNC:36174 RPS15AP24 ribosomal protein S15a pseudogene 24 pseudogene pseudogene Approved 8p12 08p12 2009-03-06 2017-10-30 648729 ENSG00000241511 OTTHUMG00000158590 NG_010125 19123937 PGOHUM00000303143 HGNC:36174 +HGNC:36848 RPS15AP25 ribosomal protein S15a pseudogene 25 pseudogene pseudogene Approved 8q13.2 08q13.2 2009-03-06 2017-10-30 728774 ENSG00000236191 OTTHUMG00000158623 NG_011025 19123937 PGOHUM00000303241 HGNC:36848 +HGNC:36773 RPS15AP26 ribosomal protein S15a pseudogene 26 pseudogene pseudogene Approved 8q22.1 08q22.1 2009-03-06 2009-03-11 100271359 NG_011324 19123937 HGNC:36773 +HGNC:37011 RPS15AP27 ribosomal protein S15a pseudogene 27 pseudogene pseudogene Approved 9q31.2 09q31.2 2009-03-06 2013-09-23 100271613 ENSG00000236783 OTTHUMG00000020456 NG_011314 19123937 PGOHUM00000236304 HGNC:37011 +HGNC:36381 RPS15AP28 ribosomal protein S15a pseudogene 28 pseudogene pseudogene Approved 10q22.1 10q22.1 2009-03-06 2016-08-16 100132400 ENSG00000229197 OTTHUMG00000018374 NG_011361 19123937 PGOHUM00000289888 HGNC:36381 +HGNC:35981 RPS15AP29 ribosomal protein S15a pseudogene 29 pseudogene pseudogene Approved 10q24.33 10q24.33 2009-03-06 2016-08-16 100128863 ENSG00000237827 OTTHUMG00000018977 NG_010495 19123937 PGOHUM00000289985 HGNC:35981 +HGNC:35495 RPS15AP30 ribosomal protein S15a pseudogene 30 pseudogene pseudogene Approved 10q25.2 10q25.2 2009-03-06 2016-08-16 100271607 ENSG00000227560 OTTHUMG00000019068 NG_011280 19123937 PGOHUM00000290285 HGNC:35495 +HGNC:36960 RPS15AP31 ribosomal protein S15a pseudogene 31 pseudogene pseudogene Approved 11p14.1 11p14.1 2009-03-06 2009-03-11 100271652 NG_010192 19123937 HGNC:36960 +HGNC:35879 RPS15AP32 ribosomal protein S15a pseudogene 32 pseudogene pseudogene Approved 12q24.13 12q24.13 2009-03-06 2017-10-30 100271649 ENSG00000242461 OTTHUMG00000157740 NG_010178 19123937 PGOHUM00000291810 HGNC:35879 +HGNC:36178 RPS15AP33 ribosomal protein S15a pseudogene 33 pseudogene pseudogene Approved 16p11 16p11 2009-03-06 2009-03-11 100271654 NG_010204 19123937 HGNC:36178 +HGNC:35609 RPS15AP34 ribosomal protein S15a pseudogene 34 pseudogene pseudogene Approved 16q21 16q21 2009-03-06 2017-01-09 390735 ENSG00000241808 OTTHUMG00000158177 NG_010426 19123937 PGOHUM00000293628 HGNC:35609 +HGNC:36768 RPS15AP35 ribosomal protein S15a pseudogene 35 pseudogene pseudogene Approved 18q12.1 18q12.1 2009-03-06 2009-03-11 390848 NG_010996 19123937 HGNC:36768 +HGNC:36803 RPS15AP36 ribosomal protein S15a pseudogene 36 pseudogene pseudogene Approved 19q13.43 19q13.43 2009-03-06 2013-09-19 100271650 ENSG00000213013 OTTHUMG00000158336 NG_010183 19123937 PGOHUM00000234821 HGNC:36803 +HGNC:36173 RPS15AP37 ribosomal protein S15a pseudogene 37 pseudogene pseudogene Approved 22q12.2 22q12.2 2009-03-06 2009-03-11 100271651 NG_010187 19123937 HGNC:36173 +HGNC:36523 RPS15AP38 ribosomal protein S15a pseudogene 38 pseudogene pseudogene Approved 22q12.3 22q12.3 2009-03-06 2013-09-23 100271655 ENSG00000237668 OTTHUMG00000150595 NG_010210 19123937 PGOHUM00000246327 HGNC:36523 +HGNC:35800 RPS15AP39 ribosomal protein S15a pseudogene 39 pseudogene pseudogene Approved Xp11.4 Xp11.4 2009-03-06 2020-04-30 100129284 ENSG00000229822 NG_009981 19123937 HGNC:35800 +HGNC:36041 RPS15AP40 ribosomal protein S15a pseudogene 40 pseudogene pseudogene Approved Xp21.1 Xp21.1 2009-03-06 2014-11-19 100128083 ENSG00000233921 OTTHUMG00000021355 NG_010442 19123937 PGOHUM00000241231 HGNC:36041 +HGNC:35725 RPS15P1 ribosomal protein S15 pseudogene 1 pseudogene pseudogene Approved 1p13.2 01p13.2 2009-03-06 2009-03-11 728428 NG_010559 19123937 HGNC:35725 +HGNC:36033 RPS15P2 ribosomal protein S15 pseudogene 2 pseudogene pseudogene Approved 1q42.2 01q42.2 2009-03-06 2009-03-11 100271066 NG_011122 19123937 HGNC:36033 +HGNC:35563 RPS15P3 ribosomal protein S15 pseudogene 3 pseudogene pseudogene Approved 1q24.3 01q24.3 2009-03-06 2009-03-11 391137 NG_011163 19123937 HGNC:35563 +HGNC:35712 RPS15P4 ribosomal protein S15 pseudogene 4 pseudogene pseudogene Approved 2q31.1 02q31.1 2009-03-06 2019-11-21 401019 ENSG00000233762 NG_005983 19123937 HGNC:35712 +HGNC:35536 RPS15P5 ribosomal protein S15 pseudogene 5 pseudogene pseudogene Approved 3p14.3 03p14.3 2009-03-06 2011-07-28 729789 ENSG00000229806 OTTHUMG00000157295 NG_010976 19123937 PGOHUM00000238042 HGNC:35536 +HGNC:36653 RPS15P6 ribosomal protein S15 pseudogene 6 pseudogene pseudogene Approved 5q34 05q34 2009-03-06 2009-03-11 391845 NG_010863 19123937 HGNC:36653 +HGNC:36623 RPS15P7 ribosomal protein S15 pseudogene 7 pseudogene pseudogene Approved 12p13 12p13 2009-03-06 2009-03-11 100271361 NG_009960 19123937 HGNC:36623 +HGNC:35847 RPS15P8 ribosomal protein S15 pseudogene 8 pseudogene pseudogene Approved 15q14 15q14 2009-03-06 2009-03-11 390576 NG_010918 19123937 HGNC:35847 +HGNC:36440 RPS15P9 ribosomal protein S15 pseudogene 9 pseudogene pseudogene Approved 19p13.3 19p13.3 2009-03-06 2016-07-25 401895 ENSG00000240846 OTTHUMG00000157966 NG_011189 19123937 PGOHUM00000294837 HGNC:36440 +HGNC:10396 RPS16 ribosomal protein S16 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 S16 40S ribosomal protein S16 S ribosomal proteins 728 1991-08-07 2019-08-20 6217 ENSG00000105193 OTTHUMG00000182972 uc002olk.4 M60854 NM_001020 "CCDS12535|CCDS82349|CCDS86768" P62249 "2016298|9582194" MGI:98118 RGD:621031 603675 HGNC:10396 "ENST00000251453.8|NM_001020.6" +HGNC:36462 RPS16P1 ribosomal protein S16 pseudogene 1 pseudogene pseudogene Approved 1p36.21 01p36.21 2009-03-06 2009-03-11 441876 NG_010091 19123937 HGNC:36462 +HGNC:35928 RPS16P2 ribosomal protein S16 pseudogene 2 pseudogene pseudogene Approved 2p24.1 02p24.1 2009-03-06 2019-11-28 402069 ENSG00000213729 NG_010786 19123937 HGNC:35928 +HGNC:35986 RPS16P3 ribosomal protein S16 pseudogene 3 pseudogene pseudogene Approved 2q21.2 02q21.2 2009-03-06 2019-11-27 100271067 ENSG00000233329 NG_011126 19123937 HGNC:35986 +HGNC:36502 RPS16P4 ribosomal protein S16 pseudogene 4 pseudogene pseudogene Approved 3p22 03p22 2009-03-06 2009-03-11 100271068 NG_011135 19123937 HGNC:36502 +HGNC:36183 RPS16P5 ribosomal protein S16 pseudogene 5 pseudogene pseudogene Approved 6p12.1 06p12.1 2009-03-06 2015-02-02 647190 ENSG00000217527 OTTHUMG00000014875 NG_010106 19123937 PGOHUM00000301388 HGNC:36183 +HGNC:36741 RPS16P6 ribosomal protein S16 pseudogene 6 pseudogene pseudogene Approved 11q13 11q13 2009-03-06 2009-03-11 100271362 NG_009966 19123937 HGNC:36741 +HGNC:36505 RPS16P7 ribosomal protein S16 pseudogene 7 pseudogene pseudogene Approved 16p13.3 16p13.3 2009-03-06 2009-03-11 441744 NG_010756 19123937 HGNC:36505 +HGNC:35608 RPS16P8 ribosomal protein S16 pseudogene 8 pseudogene pseudogene Approved 17q11.1 17q11.1 2009-03-06 2017-10-30 654170 ENSG00000213664 OTTHUMG00000157757 NG_010473 19123937 PGOHUM00000294362 HGNC:35608 +HGNC:35659 RPS16P9 ribosomal protein S16 pseudogene 9 pseudogene pseudogene Approved 19q13.32 19q13.32 2009-03-06 2016-07-25 645412 ENSG00000242675 OTTHUMG00000158202 NG_010193 19123937 PGOHUM00000295048 HGNC:35659 +HGNC:35739 RPS16P10 ribosomal protein S16 pseudogene 10 pseudogene pseudogene Approved 19p12 19p12 2009-03-06 2009-03-11 729903 NG_009607 19123937 HGNC:35739 +HGNC:10397 RPS17 ribosomal protein S17 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "RPS17L1|RPS17L2|MGC72007|S17" RPS17L ribosomal protein S17-like S ribosomal proteins 728 1991-11-29 2021-05-26 6218 ENSG00000182774 OTTHUMG00000147355 uc002bhr.2 M18000 NM_001021 CCDS10320 P08708 "1577483|7661859" MGI:1309526 RGD:62027 "Diamond-Blackfan Anemia|http://www.dbagenes.unito.it/home.php?select_db=RPS17|LRG_1143|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1143.xml" 180472 158382 HGNC:10397 "ENST00000647841.1|NM_001021.6" HGNC:10397 +HGNC:13982 RPS17P1 ribosomal protein S17 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "RPS17p|dJ994E9.1" 2009-03-01 2017-10-30 442195 ENSG00000213900 OTTHUMG00000031086 NG_008917 19123937 PGOHUM00000301306 HGNC:13982 +HGNC:10398 RPS17P2 ribosomal protein S17 pseudogene 2 pseudogene pseudogene Approved 5q23.1 05q23.1 "RPS17L1|RPS17A" ribosomal protein S17a-like 1 (pseudogene) 2009-03-01 2001-12-14 2001-12-05 2014-11-19 6219 ENSG00000197575 OTTHUMG00000157828 NG_003033 "3459254|3240863|19123937" HGNC:10398 +HGNC:10399 RPS17P3 ribosomal protein S17 pseudogene 3 pseudogene pseudogene Approved 17q11.2 17q11.2 "RPS17L2|RPS17B" ribosomal protein S17b-like 2 (pseudogene) 2009-03-01 2001-12-14 2001-12-17 2020-04-20 646013 NG_009636 19123937 HGNC:10399 +HGNC:21352 RPS17P5 ribosomal protein S17 pseudogene 5 pseudogene pseudogene Approved 6p12.3 06p12.3 dJ753D5.2 RPS17L4 ribosomal protein S17-like 4 2009-03-01 2009-01-23 2009-01-23 2014-11-18 442216 ENSG00000060303 OTTHUMG00000014833 NG_005089 19123937 HGNC:21352 +HGNC:36945 RPS17P6 ribosomal protein S17 pseudogene 6 pseudogene pseudogene Approved 1q24.1 01q24.1 2009-03-06 2009-03-11 391130 NG_011125 19123937 HGNC:36945 +HGNC:35796 RPS17P7 ribosomal protein S17 pseudogene 7 pseudogene pseudogene Approved 2q14 02q14 2009-03-06 2020-01-08 100271069 ENSG00000232723 NG_011141 19123937 HGNC:35796 +HGNC:36772 RPS17P8 ribosomal protein S17 pseudogene 8 pseudogene pseudogene Approved 2q32.3 02q32.3 2009-03-06 2012-10-12 100271070 ENSG00000226242 NG_011147 19123937 PGOHUM00000241048 HGNC:36772 +HGNC:36160 RPS17P9 ribosomal protein S17 pseudogene 9 pseudogene pseudogene Approved 3q21.3 03q21.3 2009-03-06 2009-03-11 100130823 NG_010005 19123937 HGNC:36160 +HGNC:36438 RPS17P10 ribosomal protein S17 pseudogene 10 pseudogene pseudogene Approved 3q24 03q24 2009-03-06 2009-03-11 100271071 NG_011152 19123937 HGNC:36438 +HGNC:36132 RPS17P11 ribosomal protein S17 pseudogene 11 pseudogene pseudogene Approved 5q11.2 05q11.2 2009-03-06 2013-09-23 100271072 ENSG00000244621 OTTHUMG00000157683 NG_011156 19123937 PGOHUM00000235583 HGNC:36132 +HGNC:35930 RPS17P12 ribosomal protein S17 pseudogene 12 pseudogene pseudogene Approved 7q34 07q34 2009-03-06 2009-03-11 442726 NG_009855 19123937 HGNC:35930 +HGNC:36664 RPS17P13 ribosomal protein S17 pseudogene 13 pseudogene pseudogene Approved 7p14.1 07p14.1 2009-03-06 2016-10-05 100271073 ENSG00000224706 OTTHUMG00000154989 NG_011159 19123937 PGOHUM00000250929 HGNC:36664 +HGNC:35534 RPS17P14 ribosomal protein S17 pseudogene 14 pseudogene pseudogene Approved 8q23.1 08q23.1 2009-03-06 2017-10-30 100271074 ENSG00000243287 OTTHUMG00000158682 NG_011164 19123937 PGOHUM00000303352 HGNC:35534 +HGNC:35931 RPS17P15 ribosomal protein S17 pseudogene 15 pseudogene pseudogene Approved 11q23.1 11q23.1 2009-03-06 2017-06-06 100271363 ENSG00000239354 OTTHUMG00000158454 NG_009973 19123937 PGOHUM00000290701 HGNC:35931 +HGNC:36821 RPS17P16 ribosomal protein S17 pseudogene 16 pseudogene pseudogene Approved 22q12.3 22q12.3 2009-03-06 2009-03-11 402057 NG_010713 19123937 HGNC:36821 +HGNC:35647 RPS17P17 ribosomal protein S17 pseudogene 17 pseudogene pseudogene Approved Xq27.1 Xq27.1 2009-03-06 2011-09-20 100271230 ENSG00000225758 OTTHUMG00000022546 NG_010652 19123937 PGOHUM00000241576 HGNC:35647 +HGNC:10401 RPS18 ribosomal protein S18 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "KE3|KE-3|HKE3|S18" D6S218E S ribosomal proteins 728 1993-06-23 2016-10-05 6222 ENSG00000231500 OTTHUMG00000031053 uc063zkv.1 X69150 NM_022551 CCDS4771 P62269 "8441687|9582194" MGI:98146 RGD:3595 180473 HGNC:10401 "ENST00000439602.7|NM_022551.3" +HGNC:16550 RPS18P1 ribosomal protein S18 pseudogene 1 pseudogene pseudogene Approved 20p12.3 20p12.3 dJ1022P6.1 2009-03-01 2016-07-22 128676 ENSG00000225831 OTTHUMG00000031811 AL109935 NG_000970 19123937 PGOHUM00000297041 HGNC:16550 +HGNC:19801 RPS18P2 ribosomal protein S18 pseudogene 2 pseudogene pseudogene Approved 14q32.11 14q32.11 2009-03-01 2014-11-19 326320 NG_002570 19123937 HGNC:19801 +HGNC:36198 RPS18P3 ribosomal protein S18 pseudogene 3 pseudogene pseudogene Approved 1q42.13 01q42.13 2009-03-06 2009-03-11 100128258 NG_009969 19123937 HGNC:36198 +HGNC:36952 RPS18P4 ribosomal protein S18 pseudogene 4 pseudogene pseudogene Approved 1q24 01q24 2009-03-06 2009-03-11 100271075 NG_011169 19123937 HGNC:36952 +HGNC:36287 RPS18P5 ribosomal protein S18 pseudogene 5 pseudogene pseudogene Approved 3q12.3 03q12.3 2009-03-06 2009-03-11 100131863 NG_010113 19123937 HGNC:36287 +HGNC:36028 RPS18P6 ribosomal protein S18 pseudogene 6 pseudogene pseudogene Approved 3q11.2 03q11.2 2009-03-06 2013-09-23 100271076 ENSG00000244048 OTTHUMG00000157329 NG_011173 19123937 PGOHUM00000238097 HGNC:36028 +HGNC:35874 RPS18P7 ribosomal protein S18 pseudogene 7 pseudogene pseudogene Approved 5q14.3 05q14.3 2009-03-06 2009-03-11 133790 NG_010832 19123937 HGNC:35874 +HGNC:35956 RPS18P8 ribosomal protein S18 pseudogene 8 pseudogene pseudogene Approved 6p25.1 06p25.1 2009-03-06 2009-03-11 643627 NG_011359 19123937 HGNC:35956 +HGNC:36483 RPS18P9 ribosomal protein S18 pseudogene 9 pseudogene pseudogene Approved 6q25.1 06q25.1 2009-03-06 2011-02-09 645958 ENSG00000220848 OTTHUMG00000015790 NG_010375 19123937 PGOHUM00000243812 HGNC:36483 +HGNC:35566 RPS18P10 ribosomal protein S18 pseudogene 10 pseudogene pseudogene Approved 6q24.1 06q24.1 2009-03-06 2009-03-11 729293 NG_011382 19123937 HGNC:35566 +HGNC:36319 RPS18P11 ribosomal protein S18 pseudogene 11 pseudogene pseudogene Approved 8q13.3 08q13.3 2009-03-06 2009-03-11 100271077 NG_011179 19123937 HGNC:36319 +HGNC:35967 RPS18P12 ribosomal protein S18 pseudogene 12 pseudogene pseudogene Approved 17p12 17p12 2009-03-06 2017-10-30 388339 ENSG00000230897 OTTHUMG00000058815 NG_011261 19123937 PGOHUM00000293960 HGNC:35967 +HGNC:36901 RPS18P13 ribosomal protein S18 pseudogene 13 pseudogene pseudogene Approved 19p13.11 19p13.11 2009-03-06 2016-07-25 100271364 ENSG00000243455 OTTHUMG00000158043 NG_009978 19123937 PGOHUM00000295229 HGNC:36901 +HGNC:36386 RPS18P14 ribosomal protein S18 pseudogene 14 pseudogene pseudogene Approved 22q12.2 22q12.2 2009-03-06 2009-03-11 100128535 NG_010112 19123937 HGNC:36386 +HGNC:10402 RPS19 ribosomal protein S19 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "S19|eS19|DBA" Diamond-Blackfan anemia LOH19CR1 "loss of heterozygosity on chromosome 19, region 1|loss of heterozygosity, 19, chromosomal region 1" "S ribosomal proteins|MicroRNA protein coding host genes" "728|1691" 1998-07-22 2021-05-26 6223 ENSG00000105372 OTTHUMG00000182676 uc002ort.4 BC000023 NM_001022 CCDS12588 P39019 9582194 MGI:1333780 RGD:11394726 "Diamond-Blackfan Anemia|http://www.dbagenes.unito.it/home.php?select_db=RPS19|LRG_1144|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1144.xml" 603474 118400 ligandId:3728 HGNC:10402 "ENST00000598742.6|NM_001022.4" HGNC:10402 +HGNC:28749 RPS19BP1 ribosomal protein S19 binding protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "MGC52010|FLJ21770" 2006-02-14 2014-11-19 91582 ENSG00000187051 OTTHUMG00000151101 uc003ayb.3 BC037573 NM_194326 CCDS13997 Q86WX3 16289379 MGI:1913788 RGD:1562823 610225 HGNC:28749 "ENST00000334678.8|NM_194326.4" +HGNC:16534 RPS19P1 ribosomal protein S19 pseudogene 1 pseudogene pseudogene Approved 20p11.23 20p11.23 bA189K21.7 ribosomal protein S19 psuedogene 1 2009-03-01 2002-10-22 2016-07-22 85486 ENSG00000214612 OTTHUMG00000031973 AF242191 NG_001295 "10753603|19123937" PGOHUM00000297062 HGNC:16534 +HGNC:17047 RPS19P2 ribosomal protein S19 pseudogene 2 pseudogene pseudogene Approved 1p13.2 01p13.2 2009-03-01 2014-11-18 85487 AF242192 NG_001296 "10753603|19123937" HGNC:17047 +HGNC:23560 RPS19P3 ribosomal protein S19 pseudogene 3 pseudogene pseudogene Approved 14q13.1 14q13.1 2009-03-01 2014-11-18 728953 ENSG00000240463 OTTHUMG00000157732 AL445363 NG_009541 19123937 PGOHUM00000247764 HGNC:23560 +HGNC:35778 RPS19P4 ribosomal protein S19 pseudogene 4 pseudogene pseudogene Approved 5q11.2 05q11.2 2009-03-06 2009-03-11 100132049 NG_011084 19123937 HGNC:35778 +HGNC:35850 RPS19P5 ribosomal protein S19 pseudogene 5 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2009-03-11 100131286 NG_011109 19123937 HGNC:35850 +HGNC:36217 RPS19P6 ribosomal protein S19 pseudogene 6 pseudogene pseudogene Approved 9q21.31 09q21.31 2009-03-06 2013-09-23 100271078 ENSG00000234637 OTTHUMG00000020079 NG_011181 19123937 PGOHUM00000236227 HGNC:36217 +HGNC:35550 RPS19P7 ribosomal protein S19 pseudogene 7 pseudogene pseudogene Approved 10q11.21 10q11.21 2009-03-06 2016-08-16 728509 ENSG00000228462 OTTHUMG00000018070 NG_010974 19123937 PGOHUM00000289829 HGNC:35550 +HGNC:10405 RPS20 ribosomal protein S20 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "S20|uS10" "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1998-08-18 2021-05-26 6224 ENSG00000008988 OTTHUMG00000164297 uc003xsn.3 L06498 NM_001023 "CCDS55231|CCDS6163" P60866 "9582194|8479924" MGI:1914677 RGD:621037 603682 414935 HGNC:10405 "ENST00000009589.8|NM_001023.4" HGNC:10405 +HGNC:10408 RPS20P1 ribosomal protein S20 pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 RPS20P ribosomal protein S20, pseudogene 2009-03-01 2001-12-14 2001-12-07 2014-11-18 54025 ENSG00000229761 OTTHUMG00000086461 NG_000906 19123937 PGOHUM00000239073 HGNC:10408 +HGNC:14195 RPS20P2 ribosomal protein S20 pseudogene 2 pseudogene pseudogene Approved 16p13.3 16p13.3 2000-12-21 2009-01-23 64726 ENSG00000219274 OTTHUMG00000047844 NG_009635 HGNC:14195 +HGNC:10406 RPS20P3 ribosomal protein S20 pseudogene 3 pseudogene pseudogene Approved 5q21.3 05q21.3 RPS20A ribosomal protein S20A (gene or pseudogene) 2009-03-01 2001-12-14 2001-12-10 2014-11-18 6225 NG_003034 "3459254|19123937" 180463 HGNC:10406 +HGNC:10407 RPS20P4 ribosomal protein S20 pseudogene 4 pseudogene pseudogene Approved 5q32 05q32 RPS20B ribosomal protein S20B (gene or pseudogene) 2009-03-01 2001-12-14 2001-12-10 2014-11-19 6226 ENSG00000241907 OTTHUMG00000157903 NG_003035 19123937 180464 PGOHUM00000235423 HGNC:10407 +HGNC:36367 RPS20P5 ribosomal protein S20 pseudogene 5 pseudogene pseudogene Approved 1p32.2 01p32.2 2009-03-06 2013-12-03 100270899 ENSG00000236888 OTTHUMG00000010066 NG_010270 19123937 PGOHUM00000244043 HGNC:36367 +HGNC:35629 RPS20P6 ribosomal protein S20 pseudogene 6 pseudogene pseudogene Approved 1p21 01p21 2009-03-06 2009-03-11 100270900 NG_010273 19123937 HGNC:35629 +HGNC:35911 RPS20P7 ribosomal protein S20 pseudogene 7 pseudogene pseudogene Approved 1p31.1 01p31.1 2009-03-06 2009-03-11 100270901 NG_010277 19123937 HGNC:35911 +HGNC:35770 RPS20P8 ribosomal protein S20 pseudogene 8 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2009-03-11 100271079 NG_011187 19123937 HGNC:35770 +HGNC:36472 RPS20P9 ribosomal protein S20 pseudogene 9 pseudogene pseudogene Approved 2p15 02p15 2009-03-06 2020-01-08 100271080 ENSG00000237162 NG_011191 19123937 HGNC:36472 +HGNC:36800 RPS20P10 ribosomal protein S20 pseudogene 10 pseudogene pseudogene Approved 2p13.2 02p13.2 2009-03-06 2013-09-23 100271081 ENSG00000233971 OTTHUMG00000152716 NG_011200 19123937 PGOHUM00000240091 HGNC:36800 +HGNC:36084 RPS20P11 ribosomal protein S20 pseudogene 11 pseudogene pseudogene Approved 2q13 02q13 2009-03-06 2009-03-11 100271082 NG_011209 19123937 HGNC:36084 +HGNC:36519 RPS20P12 ribosomal protein S20 pseudogene 12 pseudogene pseudogene Approved 2q37.1 02q37.1 2009-03-06 2020-01-08 100271083 ENSG00000237784 NG_011214 19123937 HGNC:36519 +HGNC:36071 RPS20P13 ribosomal protein S20 pseudogene 13 pseudogene pseudogene Approved 2q22.3 02q22.3 2009-03-06 2019-10-16 100271084 ENSG00000228848 NG_011218 19123937 HGNC:36071 +HGNC:36692 RPS20P14 ribosomal protein S20 pseudogene 14 pseudogene pseudogene Approved 3q27.3 03q27.3 2009-03-06 2012-08-09 440992 ENSG00000223803 OTTHUMG00000156517 NG_005532 19123937 PGOHUM00000238297 HGNC:36692 +HGNC:36340 RPS20P15 ribosomal protein S20 pseudogene 15 pseudogene pseudogene Approved 3p24.1 03p24.1 2009-03-06 2016-10-05 100271085 ENSG00000227523 OTTHUMG00000155689 NG_011227 19123937 PGOHUM00000237969 HGNC:36340 +HGNC:35851 RPS20P16 ribosomal protein S20 pseudogene 16 pseudogene pseudogene Approved 5q15 05q15 2009-03-06 2009-03-11 100271086 NG_011233 19123937 HGNC:35851 +HGNC:35822 RPS20P17 ribosomal protein S20 pseudogene 17 pseudogene pseudogene Approved 5q35.3 05q35.3 2009-03-06 2009-03-11 100271088 NG_011240 19123937 HGNC:35822 +HGNC:36937 RPS20P18 ribosomal protein S20 pseudogene 18 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2009-03-11 100271231 NG_010657 19123937 HGNC:36937 +HGNC:36503 RPS20P19 ribosomal protein S20 pseudogene 19 pseudogene pseudogene Approved 7q36.1 07q36.1 2009-03-06 2009-03-11 644309 NG_011101 19123937 HGNC:36503 +HGNC:36674 RPS20P20 ribosomal protein S20 pseudogene 20 pseudogene pseudogene Approved 8q13.3 08q13.3 2009-03-06 2013-06-07 100271233 ENSG00000241942 OTTHUMG00000158627 NG_010667 19123937 PGOHUM00000249709 HGNC:36674 +HGNC:35993 RPS20P21 ribosomal protein S20 pseudogene 21 pseudogene pseudogene Approved 8q21.11 08q21.11 2009-03-06 2016-11-01 100271234 ENSG00000244295 OTTHUMG00000158629 NG_010674 19123937 HGNC:35993 +HGNC:36379 RPS20P22 ribosomal protein S20 pseudogene 22 pseudogene pseudogene Approved 8p11.23 08p11.23 2009-03-06 2011-07-29 100271087 ENSG00000239218 OTTHUMG00000158605 NG_011236 19123937 PGOHUM00000249300 HGNC:36379 +HGNC:36146 RPS20P23 ribosomal protein S20 pseudogene 23 pseudogene pseudogene Approved 8q22.3 08q22.3 2009-03-06 2013-09-23 100271089 ENSG00000242399 OTTHUMG00000158672 NG_011244 19123937 PGOHUM00000249458 HGNC:36146 +HGNC:36283 RPS20P24 ribosomal protein S20 pseudogene 24 pseudogene pseudogene Approved 9q21.13 09q21.13 2009-03-06 2014-11-19 100271232 ENSG00000236862 OTTHUMG00000020012 NG_010663 19123937 PGOHUM00000236209 HGNC:36283 +HGNC:35866 RPS20P25 ribosomal protein S20 pseudogene 25 pseudogene pseudogene Approved 9q21.31 09q21.31 2009-03-06 2013-09-23 100271235 ENSG00000228375 OTTHUMG00000020081 NG_010678 19123937 PGOHUM00000236657 HGNC:35866 +HGNC:36980 RPS20P26 ribosomal protein S20 pseudogene 26 pseudogene pseudogene Approved 11p11.2 11p11.2 2009-03-06 2009-03-11 646660 NG_011349 19123937 HGNC:36980 +HGNC:36154 RPS20P27 ribosomal protein S20 pseudogene 27 pseudogene pseudogene Approved 11q14.1 11q14.1 2009-03-06 2009-03-11 729927 NG_010383 19123937 HGNC:36154 +HGNC:36452 RPS20P28 ribosomal protein S20 pseudogene 28 pseudogene pseudogene Approved 12p13 12p13 2009-03-06 2009-03-11 100271560 NG_011035 19123937 HGNC:36452 +HGNC:36237 RPS20P29 ribosomal protein S20 pseudogene 29 pseudogene pseudogene Approved 12p13.31 12p13.31 2009-03-06 2009-03-11 100271561 NG_011040 19123937 HGNC:36237 +HGNC:36626 RPS20P30 ribosomal protein S20 pseudogene 30 pseudogene pseudogene Approved 12q24.33 12q24.33 2009-03-06 2009-03-11 100271562 NG_011045 19123937 HGNC:36626 +HGNC:35767 RPS20P31 ribosomal protein S20 pseudogene 31 pseudogene pseudogene Approved 12q24.23 12q24.23 2009-03-06 2017-10-30 100271563 ENSG00000240925 OTTHUMG00000157789 NG_011049 19123937 PGOHUM00000291819 HGNC:35767 +HGNC:36444 RPS20P32 ribosomal protein S20 pseudogene 32 pseudogene pseudogene Approved 13q12.13 13q12.13 2009-03-06 2011-03-23 100129306 ENSG00000218198 OTTHUMG00000016624 NG_010130 19123937 PGOHUM00000248342 HGNC:36444 +HGNC:36725 RPS20P33 ribosomal protein S20 pseudogene 33 pseudogene pseudogene Approved 14q32.33 14q32.33 2009-03-06 2017-10-30 100271564 ENSG00000242085 OTTHUMG00000158158 NG_011056 19123937 PGOHUM00000292783 HGNC:36725 +HGNC:36668 RPS20P34 ribosomal protein S20 pseudogene 34 pseudogene pseudogene Approved 15q21.1 15q21.1 2009-03-06 2009-03-11 100271565 NG_011060 19123937 HGNC:36668 +HGNC:36929 RPS20P35 ribosomal protein S20 pseudogene 35 pseudogene pseudogene Approved 17q 17q 2009-03-06 2009-03-11 100271566 OTTHUMG00000157838 NG_011067 19123937 HGNC:36929 +HGNC:10409 RPS21 ribosomal protein S21 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 S21 8.2 kDa differentiation factor S ribosomal proteins 728 1993-09-29 2016-10-05 6227 ENSG00000171858 OTTHUMG00000032915 uc002ycr.4 L04483 NM_001024 CCDS13497 P63220 "8332502|9582194" MGI:1913731 RGD:2323583 180477 HGNC:10409 "ENST00000343986.9|NM_001024.4" +HGNC:36401 RPS21P1 ribosomal protein S21 pseudogene 1 pseudogene pseudogene Approved 1q42.3 01q42.3 2009-03-06 2013-10-24 100271090 ENSG00000229795 OTTHUMG00000157020 NG_011248 19123937 HGNC:36401 +HGNC:36191 RPS21P2 ribosomal protein S21 pseudogene 2 pseudogene pseudogene Approved 2q12.2 02q12.2 2009-03-06 2019-12-20 100132961 ENSG00000230353 NG_010504 19123937 HGNC:36191 +HGNC:36847 RPS21P3 ribosomal protein S21 pseudogene 3 pseudogene pseudogene Approved 4q21.21 04q21.21 2009-03-06 2009-03-11 100132993 NG_010672 19123937 HGNC:36847 +HGNC:35922 RPS21P4 ribosomal protein S21 pseudogene 4 pseudogene pseudogene Approved 4p15.32 04p15.32 2009-03-06 2012-11-06 100128912 ENSG00000242358 OTTHUMG00000157438 NG_009712 19123937 PGOHUM00000245473 HGNC:35922 +HGNC:36359 RPS21P5 ribosomal protein S21 pseudogene 5 pseudogene pseudogene Approved 9q31.3-q32 09q31.3-q32 2009-03-06 2009-03-11 100271236 NG_010685 19123937 HGNC:36359 +HGNC:36317 RPS21P6 ribosomal protein S21 pseudogene 6 pseudogene pseudogene Approved 18q21.1 18q21.1 2009-03-06 2009-03-11 100271365 NG_009985 19123937 HGNC:36317 +HGNC:35577 RPS21P7 ribosomal protein S21 pseudogene 7 pseudogene pseudogene Approved 20p13 20p13 2009-03-06 2009-03-11 100271366 NG_009993 19123937 HGNC:35577 +HGNC:39705 RPS21P8 ribosomal protein S21 pseudogene 8 pseudogene pseudogene Approved 13q12.13 13q12.13 2011-03-23 2017-03-22 100873798 ENSG00000223782 OTTHUMG00000016623 NG_032349 PGOHUM00000292112 HGNC:39705 +HGNC:10410 RPS23 ribosomal protein S23 protein-coding gene gene with protein product Approved 5q14.2 05q14.2 "S23|uS12" S ribosomal proteins 728 1998-07-22 2021-05-26 6228 ENSG00000186468 OTTHUMG00000162557 uc003khu.4 AB007158 NM_001025 CCDS47241 P62266 9582194 MGI:1913725 RGD:621039 603683 HGNC:10410 "ENST00000296674.13|NM_001025.5" +HGNC:16043 RPS23P1 ribosomal protein S23 pseudogene 1 pseudogene pseudogene Approved 8q22.1 08q22.1 2009-03-01 2015-08-24 93948 ENSG00000243504 OTTHUMG00000158669 NG_000953 19123937 PGOHUM00000303633 HGNC:16043 +HGNC:36568 RPS23P2 ribosomal protein S23 pseudogene 2 pseudogene pseudogene Approved 4q28.3 04q28.3 2009-03-06 2015-08-24 391701 ENSG00000213448 OTTHUMG00000157567 NG_009493 19123937 PGOHUM00000300383 HGNC:36568 +HGNC:35499 RPS23P3 ribosomal protein S23 pseudogene 3 pseudogene pseudogene Approved 4q13.2 04q13.2 2009-03-06 2015-08-24 100271091 ENSG00000244099 OTTHUMG00000157494 NG_011257 19123937 PGOHUM00000300232 HGNC:35499 +HGNC:36633 RPS23P4 ribosomal protein S23 pseudogene 4 pseudogene pseudogene Approved 4q31.21 04q31.21 2009-03-06 2015-08-24 100271092 ENSG00000240992 OTTHUMG00000157579 NG_011263 19123937 PGOHUM00000300024 HGNC:36633 +HGNC:35726 RPS23P5 ribosomal protein S23 pseudogene 5 pseudogene pseudogene Approved 5p15.2 05p15.2 2009-03-06 2015-08-24 100271093 ENSG00000242608 OTTHUMG00000157616 NG_011270 19123937 PGOHUM00000300492 HGNC:35726 +HGNC:36511 RPS23P6 ribosomal protein S23 pseudogene 6 pseudogene pseudogene Approved 16p13.13 16p13.13 2009-03-06 2015-08-24 100271367 ENSG00000241641 OTTHUMG00000158098 NG_010000 19123937 PGOHUM00000293706 HGNC:36511 +HGNC:43899 RPS23P7 ribosomal protein S23 pseudogene 7 pseudogene pseudogene Approved 17q23.2 17q23.2 2012-04-27 2012-04-27 2015-08-24 100130106 ENSG00000239527 OTTHUMG00000157912 NG_009489 PGOHUM00000294509 HGNC:43899 +HGNC:35982 RPS23P8 ribosomal protein S23 pseudogene 8 pseudogene pseudogene Approved Xq13.1 Xq13.1 2009-03-06 2015-08-24 653658 ENSG00000230629 OTTHUMG00000021781 NG_009491 19123937 PGOHUM00000305131 HGNC:35982 +HGNC:48341 RPS23P9 ribosomal protein S23 pseudogene 9 pseudogene pseudogene Approved 1q23.3 01q23.3 2013-05-09 2015-08-24 100419472 ENSG00000231586 OTTHUMG00000074097 NG_027007 PGOHUM00000295934 HGNC:48341 +HGNC:48342 RPS23P10 ribosomal protein S23 pseudogene 10 pseudogene pseudogene Approved 1q23.3 01q23.3 2013-05-09 2015-08-24 100419471 ENSG00000224203 OTTHUMG00000034471 NG_027006 PGOHUM00000295933 HGNC:48342 +HGNC:10411 RPS24 ribosomal protein S24 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "S24|eS24" S ribosomal proteins 728 1990-08-22 2021-05-26 6229 ENSG00000138326 OTTHUMG00000018549 uc001jzq.4 AB007159 NM_001026 "CCDS7356|CCDS44443|CCDS86124|CCDS86123|CCDS86122|CCDS7355" P62847 "9027498|9582194" MGI:98147 RGD:621040 "Diamond-Blackfan Anemia|http://www.dbagenes.unito.it/home.php?select_db=RPS24|LRG_1145|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1145.xml" 602412 118403 HGNC:10411 "ENST00000372360.9|NM_033022.4" HGNC:10411 +HGNC:10412 RPS24P1 ribosomal protein S24 pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 RPS24P ribosomal protein S24 pseudogene 1999-10-28 2001-12-14 2001-12-10 2014-11-18 23756 ENSG00000236477 OTTHUMG00000036383 NG_000893 PGOHUM00000233952 HGNC:10412 +HGNC:19791 RPS24P2 ribosomal protein S24 pseudogene 2 pseudogene pseudogene Approved 14q24.3 14q24.3 2009-03-01 2014-11-18 326321 NG_002571 19123937 HGNC:19791 +HGNC:19797 RPS24P3 ribosomal protein S24 pseudogene 3 pseudogene pseudogene Approved 14q31.1 14q31.1 2009-03-01 2014-11-19 326322 NG_002572 19123937 HGNC:19797 +HGNC:35852 RPS24P4 ribosomal protein S24 pseudogene 4 pseudogene pseudogene Approved 1q42.2 01q42.2 2009-03-06 2009-03-11 729257 NG_009044 19123937 HGNC:35852 +HGNC:36026 RPS24P5 ribosomal protein S24 pseudogene 5 pseudogene pseudogene Approved 1p36.13-q41 01p36.13-q41 2009-03-06 2009-03-11 100271094 NG_011274 19123937 HGNC:36026 +HGNC:36240 RPS24P6 ribosomal protein S24 pseudogene 6 pseudogene pseudogene Approved 2q11.1 02q11.1 2009-03-06 2013-09-23 100216339 ENSG00000233158 OTTHUMG00000155141 NG_009040 19123937 PGOHUM00000240783 HGNC:36240 +HGNC:35737 RPS24P7 ribosomal protein S24 pseudogene 7 pseudogene pseudogene Approved 2p15 02p15 2009-03-06 2013-09-23 100216342 ENSG00000227361 OTTHUMG00000153265 NG_009043 19123937 PGOHUM00000240658 HGNC:35737 +HGNC:37016 RPS24P8 ribosomal protein S24 pseudogene 8 pseudogene pseudogene Approved 3p21.31 03p21.31 2009-03-06 2013-09-23 100216336 ENSG00000224094 OTTHUMG00000156988 NG_009034 19123937 PGOHUM00000237609 HGNC:37016 +HGNC:35711 RPS24P9 ribosomal protein S24 pseudogene 9 pseudogene pseudogene Approved 3q21.2 03q21.2 2009-03-06 2009-03-11 100132496 NG_010758 19123937 HGNC:35711 +HGNC:36554 RPS24P10 ribosomal protein S24 pseudogene 10 pseudogene pseudogene Approved 3p25 03p25 2009-03-06 2009-03-11 100271097 NG_011289 19123937 HGNC:36554 +HGNC:36050 RPS24P11 ribosomal protein S24 pseudogene 11 pseudogene pseudogene Approved 4p16.1 04p16.1 2009-03-06 2009-03-11 100128519 NG_010003 19123937 HGNC:36050 +HGNC:35623 RPS24P12 ribosomal protein S24 pseudogene 12 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2012-01-26 100271098 ENSG00000220237 OTTHUMG00000015309 NG_011293 19123937 PGOHUM00000243730 HGNC:35623 +HGNC:36805 RPS24P13 ribosomal protein S24 pseudogene 13 pseudogene pseudogene Approved 10p11.22 10p11.22 2009-03-06 2013-09-23 100216338 ENSG00000233190 OTTHUMG00000017920 NG_009039 19123937 PGOHUM00000256551 HGNC:36805 +HGNC:35744 RPS24P14 ribosomal protein S24 pseudogene 14 pseudogene pseudogene Approved 11p15.4 11p15.4 2009-03-06 2017-10-30 100128423 ENSG00000223688 OTTHUMG00000011699 NG_009035 19123937 PGOHUM00000290782 HGNC:35744 +HGNC:35665 RPS24P15 ribosomal protein S24 pseudogene 15 pseudogene pseudogene Approved 11p13 11p13 2009-03-06 2009-03-11 390107 NG_009036 19123937 HGNC:35665 +HGNC:35542 RPS24P16 ribosomal protein S24 pseudogene 16 pseudogene pseudogene Approved 15q23 15q23 2009-03-06 2013-09-23 100216340 ENSG00000242634 OTTHUMG00000157982 NG_009041 19123937 PGOHUM00000262919 HGNC:35542 +HGNC:36348 RPS24P17 ribosomal protein S24 pseudogene 17 pseudogene pseudogene Approved 16q13 16q13 2009-03-06 2017-10-30 100216341 ENSG00000243988 OTTHUMG00000158147 NG_009042 19123937 PGOHUM00000293877 HGNC:36348 +HGNC:36745 RPS24P18 ribosomal protein S24 pseudogene 18 pseudogene pseudogene Approved 18q11.2 18q11.2 2009-03-06 2017-10-30 100271371 ENSG00000243925 OTTHUMG00000158184 NG_010023 19123937 PGOHUM00000294754 HGNC:36745 +HGNC:35683 RPS24P19 ribosomal protein S24 pseudogene 19 pseudogene pseudogene Approved Xq26.2 Xq26.2 2009-03-06 2020-07-03 100130183 ENSG00000227008 NG_009037 19123937 HGNC:35683 +HGNC:54883 RPS24P21 ribosomal protein S24 pseudogene 21 pseudogene pseudogene Approved Xp22.33 Xp22.33 2020-04-17 2020-04-17 117751730 ENSG00000230249 NG_012822 +HGNC:10413 RPS25 ribosomal protein S25 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 S25 S ribosomal proteins 728 1992-02-14 2015-08-25 6230 ENSG00000118181 OTTHUMG00000166350 uc001pun.4 M64716 NM_001028 CCDS8406 P62851 1748303 MGI:1922867 RGD:621043 180465 HGNC:10413 "ENST00000527673.2|NM_001028.3" +HGNC:34027 RPS25P1 ribosomal protein S25 pseudogene 1 pseudogene pseudogene Approved 11p14.1 11p14.1 2009-03-01 2014-11-19 283114 NG_003216 19123937 HGNC:34027 +HGNC:36701 RPS25P2 ribosomal protein S25 pseudogene 2 pseudogene pseudogene Approved 1q32.2 01q32.2 2009-03-06 2009-03-11 100271100 NG_011304 19123937 HGNC:36701 +HGNC:36073 RPS25P3 ribosomal protein S25 pseudogene 3 pseudogene pseudogene Approved 2p24.1 02p24.1 2009-03-06 2019-12-18 100271101 ENSG00000233416 NG_011312 19123937 HGNC:36073 +HGNC:35669 RPS25P4 ribosomal protein S25 pseudogene 4 pseudogene pseudogene Approved 3p21.1 03p21.1 2009-03-06 2009-03-11 391539 NG_010598 19123937 HGNC:35669 +HGNC:35788 RPS25P5 ribosomal protein S25 pseudogene 5 pseudogene pseudogene Approved 3q21-q25 03q21-q25 2009-03-06 2009-03-11 100271102 NG_011318 19123937 HGNC:35788 +HGNC:35532 RPS25P6 ribosomal protein S25 pseudogene 6 pseudogene pseudogene Approved 5q23.1 05q23.1 2009-03-06 2009-03-11 401206 NG_006648 19123937 HGNC:35532 +HGNC:36585 RPS25P7 ribosomal protein S25 pseudogene 7 pseudogene pseudogene Approved 6p25 06p25 2009-03-06 2009-03-11 100271103 NG_011323 19123937 HGNC:36585 +HGNC:36075 RPS25P8 ribosomal protein S25 pseudogene 8 pseudogene pseudogene Approved 9q33.2 09q33.2 2009-03-06 2009-03-11 100131196 NG_010642 19123937 HGNC:36075 +HGNC:36936 RPS25P9 ribosomal protein S25 pseudogene 9 pseudogene pseudogene Approved 10q22.1 10q22.1 2009-03-06 2016-08-16 100271373 ENSG00000232142 OTTHUMG00000018403 NG_010036 19123937 PGOHUM00000289896 HGNC:36936 +HGNC:36078 RPS25P10 ribosomal protein S25 pseudogene 10 pseudogene pseudogene Approved 22q13.1 22q13.1 2009-03-06 2009-03-11 100271372 NG_010031 19123937 HGNC:36078 +HGNC:10414 RPS26 ribosomal protein S26 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "S26|eS26" 40S ribosomal protein S26 S ribosomal proteins 728 1993-01-19 2021-05-26 6231 ENSG00000197728 OTTHUMG00000170139 uc001sjf.4 AB007160 NM_001029 CCDS31832 P62854 "9582194|8670309" MGI:1351628 RGD:2319323 LRG_1146|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1146.xml 603701 225337 HGNC:10414 "ENST00000646449.2|NM_001029.5" HGNC:10414 +HGNC:10415 RPS26P1 ribosomal protein S26 pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 RPS26P ribosomal protein S26 pseudogene 2000-05-23 2001-12-14 2001-12-07 2009-01-23 54024 NG_000905 HGNC:10415 +HGNC:23662 RPS26P2 ribosomal protein S26 pseudogene 2 pseudogene pseudogene Approved 9p21.1 09p21.1 bA98O11.1 2009-03-01 2014-11-19 646753 ENSG00000233278 OTTHUMG00000019731 NG_009772 19123937 HGNC:23662 +HGNC:23411 RPS26P3 ribosomal protein S26 pseudogene 3 pseudogene pseudogene Approved 9p23 09p23 bA338L20.1 2009-03-01 2014-11-19 441386 ENSG00000212829 OTTHUMG00000019545 NG_004800 "10557312|19123937" HGNC:23411 +HGNC:23775 RPS26P4 ribosomal protein S26 pseudogene 4 pseudogene pseudogene Approved 21q22.2 21q22.2 2009-03-01 2014-11-18 692146 ENSG00000228349 OTTHUMG00000086713 AF121781 NG_005578 19123937 PGOHUM00000239087 HGNC:23775 +HGNC:23776 RPS26P5 ribosomal protein S26 pseudogene 5 pseudogene pseudogene Approved 21q21.1 21q21.1 2009-03-01 2014-11-18 387495 ENSG00000224602 OTTHUMG00000074375 NG_009769 19123937 PGOHUM00000239039 HGNC:23776 +HGNC:31090 RPS26P6 ribosomal protein S26 pseudogene 6 pseudogene pseudogene Approved 8q22.3 08q22.3 2009-03-01 2020-04-20 392256 ENSG00000212994 OTTHUMG00000158673 NG_003189 19123937 HGNC:31090 +HGNC:20077 RPS26P7 ribosomal protein S26 pseudogene 7 pseudogene pseudogene Approved 8q12.1 08q12.1 HsT24280 2009-03-01 2014-11-19 619443 NG_009773 19123937 HGNC:20077 +HGNC:31329 RPS26P8 ribosomal protein S26 pseudogene 8 pseudogene pseudogene Approved 17q21.31 17q21.31 2009-03-01 2014-11-19 644191 ENSG00000204652 OTTHUMG00000132555 AC126544 NG_009394 19123937 HGNC:31329 +HGNC:31821 RPS26P9 ribosomal protein S26 pseudogene 9 pseudogene pseudogene Approved 14q11.1 14q11.1 2009-03-01 2014-11-19 446209 NG_009962 19123937 HGNC:31821 +HGNC:32201 RPS26P10 ribosomal protein S26 pseudogene 10 pseudogene pseudogene Approved 8q21.3 08q21.3 2009-03-01 2014-11-19 401470 NG_005790 19123937 HGNC:32201 +HGNC:31817 RPS26P11 ribosomal protein S26 pseudogene 11 pseudogene pseudogene Approved Xq13.1 Xq13.1 bA366E13.1 RPS26L1 ribosomal protein S26-like 1 2009-03-01 2009-01-23 2009-01-23 2014-11-19 441502 ENSG00000196933 OTTHUMG00000021806 NR_002309 Q5JNZ5 19123937 RGD:1565117 HGNC:31817 +HGNC:35487 RPS26P12 ribosomal protein S26 pseudogene 12 pseudogene pseudogene Approved 1q24 01q24 2009-03-06 2009-03-11 100271104 NG_009954 19123937 HGNC:35487 +HGNC:35784 RPS26P13 ribosomal protein S26 pseudogene 13 pseudogene pseudogene Approved 1q32.2 01q32.2 2009-03-06 2013-09-23 100271106 ENSG00000227887 OTTHUMG00000036135 NG_009965 19123937 PGOHUM00000244406 HGNC:35784 +HGNC:36992 RPS26P14 ribosomal protein S26 pseudogene 14 pseudogene pseudogene Approved 1p32.3 01p32.3 2009-03-06 2009-03-11 100270902 NG_010283 19123937 HGNC:36992 +HGNC:35680 RPS26P15 ribosomal protein S26 pseudogene 15 pseudogene pseudogene Approved 1p32.2 01p32.2 2009-03-06 2013-12-03 644928 ENSG00000223416 OTTHUMG00000010072 NG_010340 19123937 HGNC:35680 +HGNC:35557 RPS26P16 ribosomal protein S26 pseudogene 16 pseudogene pseudogene Approved 1q25.2 01q25.2 2009-03-06 2009-03-11 730177 NG_009599 19123937 HGNC:35557 +HGNC:36681 RPS26P17 ribosomal protein S26 pseudogene 17 pseudogene pseudogene Approved 1q41 01q41 2009-03-06 2009-03-11 391165 NG_011316 19123937 HGNC:36681 +HGNC:35782 RPS26P18 ribosomal protein S26 pseudogene 18 pseudogene pseudogene Approved 2p24 02p24 2009-03-06 2020-01-08 100271108 ENSG00000229087 NG_009977 19123937 HGNC:35782 +HGNC:36377 RPS26P19 ribosomal protein S26 pseudogene 19 pseudogene pseudogene Approved 2q14.3 02q14.3 2009-03-06 2019-11-08 100271110 ENSG00000244563 NG_009992 19123937 HGNC:36377 +HGNC:36485 RPS26P20 ribosomal protein S26 pseudogene 20 pseudogene pseudogene Approved 2q31.1 02q31.1 2009-03-06 2019-11-08 644166 ENSG00000224553 NG_010373 19123937 HGNC:36485 +HGNC:36469 RPS26P21 ribosomal protein S26 pseudogene 21 pseudogene pseudogene Approved 3q13.32 03q13.32 2009-03-06 2016-10-05 100271105 ENSG00000242829 OTTHUMG00000157351 NG_009959 19123937 PGOHUM00000238140 HGNC:36469 +HGNC:36261 RPS26P22 ribosomal protein S26 pseudogene 22 pseudogene pseudogene Approved 3q13 03q13 2009-03-06 2009-03-11 100271112 NG_010008 19123937 HGNC:36261 +HGNC:36332 RPS26P23 ribosomal protein S26 pseudogene 23 pseudogene pseudogene Approved 4q26 04q26 2009-03-06 2009-03-11 100271107 NG_009972 19123937 HGNC:36332 +HGNC:36917 RPS26P24 ribosomal protein S26 pseudogene 24 pseudogene pseudogene Approved 4q12 04q12 2009-03-06 2013-09-23 100271113 ENSG00000243920 OTTHUMG00000157479 NG_010013 19123937 PGOHUM00000245541 HGNC:36917 +HGNC:35730 RPS26P25 ribosomal protein S26 pseudogene 25 pseudogene pseudogene Approved 4q26 04q26 2009-03-06 2009-03-11 728937 NG_010542 19123937 HGNC:35730 +HGNC:36029 RPS26P26 ribosomal protein S26 pseudogene 26 pseudogene pseudogene Approved 5q13.3 05q13.3 2009-03-06 2009-03-11 100271109 NG_009984 19123937 HGNC:36029 +HGNC:35636 RPS26P27 ribosomal protein S26 pseudogene 27 pseudogene pseudogene Approved 5q11-q12 05q11-q12 2009-03-06 2009-03-11 100271237 NG_010690 19123937 HGNC:35636 +HGNC:36149 RPS26P28 ribosomal protein S26 pseudogene 28 pseudogene pseudogene Approved 5p15.1 05p15.1 2009-03-06 2015-07-22 643003 ENSG00000243538 OTTHUMG00000157620 NG_006027 19123937 PGOHUM00000300500 HGNC:36149 +HGNC:36456 RPS26P29 ribosomal protein S26 pseudogene 29 pseudogene pseudogene Approved 6p24.3 06p24.3 2009-03-06 2009-03-11 442158 NG_009788 19123937 HGNC:36456 +HGNC:35574 RPS26P30 ribosomal protein S26 pseudogene 30 pseudogene pseudogene Approved 7p21.1 07p21.1 2009-03-06 2014-01-07 100271111 ENSG00000234839 OTTHUMG00000152586 NG_009999 19123937 PGOHUM00000233145 HGNC:35574 +HGNC:36614 RPS26P31 ribosomal protein S26 pseudogene 31 pseudogene pseudogene Approved 7q31.32 07q31.32 2009-03-06 2017-10-30 645979 ENSG00000235459 OTTHUMG00000157100 NG_009433 19123937 HGNC:36614 +HGNC:35753 RPS26P32 ribosomal protein S26 pseudogene 32 pseudogene pseudogene Approved 7p15.3 07p15.3 2009-03-06 2009-03-11 389472 NG_004809 19123937 HGNC:35753 +HGNC:36227 RPS26P33 ribosomal protein S26 pseudogene 33 pseudogene pseudogene Approved 7q21.3-q22.1 07q21.3-q22.1 2009-03-06 2009-03-11 100271239 NG_010704 19123937 HGNC:36227 +HGNC:36894 RPS26P34 ribosomal protein S26 pseudogene 34 pseudogene pseudogene Approved 8q21.13 08q21.13 2009-03-06 2017-10-30 100271114 ENSG00000240427 OTTHUMG00000158661 NG_010018 19123937 PGOHUM00000303604 HGNC:36894 +HGNC:36229 RPS26P35 ribosomal protein S26 pseudogene 35 pseudogene pseudogene Approved 8q24.12 08q24.12 2009-03-06 2017-10-30 441377 ENSG00000242206 OTTHUMG00000158691 NG_010179 19123937 PGOHUM00000303364 HGNC:36229 +HGNC:36561 RPS26P36 ribosomal protein S26 pseudogene 36 pseudogene pseudogene Approved 8q24.3 08q24.3 2009-03-06 2009-03-11 100271240 NG_010708 19123937 HGNC:36561 +HGNC:36875 RPS26P37 ribosomal protein S26 pseudogene 37 pseudogene pseudogene Approved 9q22.3 09q22.3 2009-03-06 2009-03-11 100271238 NG_010696 19123937 HGNC:36875 +HGNC:36406 RPS26P38 ribosomal protein S26 pseudogene 38 pseudogene pseudogene Approved 10q23.2 10q23.2 2009-03-06 2016-08-17 100129552 ENSG00000234192 OTTHUMG00000018681 NG_010063 19123937 PGOHUM00000290235 HGNC:36406 +HGNC:36958 RPS26P39 ribosomal protein S26 pseudogene 39 pseudogene pseudogene Approved 10q26.13 10q26.13 2009-03-06 2016-08-16 100128168 ENSG00000227586 OTTHUMG00000019196 NG_010876 19123937 PGOHUM00000290009 HGNC:36958 +HGNC:36906 RPS26P40 ribosomal protein S26 pseudogene 40 pseudogene pseudogene Approved 10q22.1 10q22.1 2009-03-06 2016-08-16 338611 ENSG00000231366 OTTHUMG00000018415 NG_010929 19123937 PGOHUM00000289898 HGNC:36906 +HGNC:36062 RPS26P41 ribosomal protein S26 pseudogene 41 pseudogene pseudogene Approved 10q22.2 10q22.2 2009-03-06 2016-08-16 100271567 ENSG00000237139 OTTHUMG00000018468 NG_011073 19123937 PGOHUM00000290204 HGNC:36062 +HGNC:36243 RPS26P42 ribosomal protein S26 pseudogene 42 pseudogene pseudogene Approved 10q22.2 10q22.2 2009-03-06 2016-08-17 100271568 ENSG00000232437 OTTHUMG00000018514 NG_011080 19123937 PGOHUM00000290209 HGNC:36243 +HGNC:36675 RPS26P43 ribosomal protein S26 pseudogene 43 pseudogene pseudogene Approved 11q24.1 11q24.1 2009-03-06 2017-10-30 100271571 ENSG00000244641 OTTHUMG00000158478 NG_011092 19123937 PGOHUM00000290733 HGNC:36675 +HGNC:36927 RPS26P44 ribosomal protein S26 pseudogene 44 pseudogene pseudogene Approved 12p13.3 12p13.3 2009-03-06 2009-03-11 100271569 NG_011083 19123937 HGNC:36927 +HGNC:36944 RPS26P45 ribosomal protein S26 pseudogene 45 pseudogene pseudogene Approved 12q15 12q15 2009-03-06 2015-07-22 100271570 ENSG00000241765 OTTHUMG00000157615 NG_011087 19123937 PGOHUM00000291723 HGNC:36944 +HGNC:35807 RPS26P46 ribosomal protein S26 pseudogene 46 pseudogene pseudogene Approved 12p13.1 12p13.1 2009-03-06 2009-03-11 100271572 NG_011095 19123937 HGNC:35807 +HGNC:36368 RPS26P47 ribosomal protein S26 pseudogene 47 pseudogene pseudogene Approved 13q32.3 13q32.3 2009-03-06 2014-11-18 400156 ENSG00000234354 OTTHUMG00000017285 NG_011410 19123937 HGNC:36368 +HGNC:35519 RPS26P48 ribosomal protein S26 pseudogene 48 pseudogene pseudogene Approved 14q24.3 14q24.3 2009-03-06 2017-01-16 100271574 ENSG00000239438 OTTHUMG00000158071 NG_011106 19123937 PGOHUM00000292420 HGNC:35519 +HGNC:35514 RPS26P49 ribosomal protein S26 pseudogene 49 pseudogene pseudogene Approved 14q32.33 14q32.33 2009-03-06 2017-10-30 100271575 ENSG00000239365 OTTHUMG00000158157 NG_011113 19123937 PGOHUM00000292456 HGNC:35514 +HGNC:35615 RPS26P50 ribosomal protein S26 pseudogene 50 pseudogene pseudogene Approved 15q22.31 15q22.31 2009-03-06 2009-03-11 644934 NG_010374 19123937 HGNC:35615 +HGNC:36254 RPS26P51 ribosomal protein S26 pseudogene 51 pseudogene pseudogene Approved 16p13.3 16p13.3 2009-03-06 2009-03-11 100271576 NG_011117 19123937 HGNC:36254 +HGNC:36863 RPS26P52 ribosomal protein S26 pseudogene 52 pseudogene pseudogene Approved 16p13.12 16p13.12 2009-03-06 2017-10-30 100271577 ENSG00000242307 OTTHUMG00000158102 NG_011121 19123937 PGOHUM00000293425 HGNC:36863 +HGNC:35582 RPS26P53 ribosomal protein S26 pseudogene 53 pseudogene pseudogene Approved 17p13.1 17p13.1 2009-03-06 2009-03-11 728823 NG_011282 19123937 HGNC:35582 +HGNC:36868 RPS26P54 ribosomal protein S26 pseudogene 54 pseudogene pseudogene Approved 18q21.32 18q21.32 2009-03-06 2017-10-30 100131971 ENSG00000224161 OTTHUMG00000158255 NG_010682 19123937 PGOHUM00000294798 HGNC:36868 +HGNC:36500 RPS26P55 ribosomal protein S26 pseudogene 55 pseudogene pseudogene Approved 19q13.11 19q13.11 2009-03-06 2014-08-13 100129650 ENSG00000239210 OTTHUMG00000185799 NG_010591 19123937 PGOHUM00000234285 HGNC:36500 +HGNC:35858 RPS26P56 ribosomal protein S26 pseudogene 56 pseudogene pseudogene Approved Xq25 Xq25 2009-03-06 2011-09-20 100271400 ENSG00000226339 OTTHUMG00000022369 NG_010217 19123937 PGOHUM00000242006 HGNC:35858 +HGNC:36537 RPS26P57 ribosomal protein S26 pseudogene 57 pseudogene pseudogene Approved Xq25 Xq25 2009-03-06 2020-06-19 100271401 ENSG00000236880 NG_010223 19123937 HGNC:36537 +HGNC:36571 RPS26P58 ribosomal protein S26 pseudogene 58 pseudogene pseudogene Approved Xp22.11 Xp22.11 2009-03-06 2020-04-22 729188 ENSG00000225071 NG_005780 19123937 HGNC:36571 +HGNC:10416 RPS27 ribosomal protein S27 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "MPS-1|MPS1|S27" metallopanstimulin 1 ribosomal protein S27 (metallopanstimulin 1) S ribosomal proteins 728 1998-06-05 2008-08-29 2021-04-13 6232 ENSG00000177954 OTTHUMG00000036591 uc001fdv.4 U57847 NM_001030 CCDS1059 P42677 "8908372|8407955" MGI:1888676 RGD:621045 LRG_1158|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1158.xml 603702 471006 HGNC:10416 "ENST00000651669.1|NM_001030.6" HGNC:10416 +HGNC:10417 RPS27A ribosomal protein S27a protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "UBCEP80|Uba80|S27A" ubiquitin carboxyl extension protein 80 S ribosomal proteins 728 1998-07-29 2016-10-05 6233 ENSG00000143947 OTTHUMG00000151919 uc010yow.3 AB007163 NM_001135592 CCDS33202 P62979 9582194 MGI:1925544 RGD:6489478 191343 471008 HGNC:10417 "ENST00000272317.11|NM_002954.6" +HGNC:17121 RPS27AP1 RPS27A pseudogene 1 pseudogene pseudogene Approved 17p13.1 17p13.1 RPS27AP ribosomal protein S27a pseudogene 1 2009-03-01 2020-04-17 2020-04-17 103911 ENSG00000242692 OTTHUMG00000157706 NG_000960 "10772958|19123937" PGOHUM00000294270 HGNC:17121 +HGNC:16572 RPS27AP2 RPS27A pseudogene 2 pseudogene pseudogene Approved 20p12.1 20p12.1 "dJ531H16.4|LncRNApcsk2-2:1" ribosomal protein S27a pseudogene 2 2009-03-01 2020-04-17 2020-04-17 140752 ENSG00000232333 OTTHUMG00000031943 AC010083 NG_000995 "19123937|31819499" PGOHUM00000297059 HGNC:16572 +HGNC:16538 RPS27AP3 RPS27A pseudogene 3 pseudogene pseudogene Approved 20q11.23 20q11.23 bA332A4.3 RPS27AP ribosomal protein S27a pseudogene 3 2009-03-01 2020-04-17 2020-04-17 140714 ENSG00000226144 OTTHUMG00000032404 NG_000985 19123937 PGOHUM00000297115 HGNC:16538 +HGNC:19775 RPS27AP4 RPS27A pseudogene 4 pseudogene pseudogene Approved 14q12 14q12 ribosomal protein S27a pseudogene 4 2009-03-01 2020-04-17 2020-04-17 326323 NG_002573 19123937 PGOHUM00000292305 HGNC:19775 +HGNC:36867 RPS27AP5 ribosomal protein S27a pseudogene 5 other unknown Approved 1q31.2 01q31.2 2009-03-06 2019-10-17 100271374 ENSG00000231767 NG_010047 19123937 HGNC:36867 +HGNC:36236 RPS27AP6 RPS27A pseudogene 6 pseudogene pseudogene Approved 1q21.3 01q21.3 ribosomal protein S27a pseudogene 6 2009-03-06 2020-04-17 2020-04-17 100271144 ENSG00000224800 OTTHUMG00000035012 NG_010216 19123937 PGOHUM00000295893 HGNC:36236 +HGNC:35735 RPS27AP7 RPS27A pseudogene 7 pseudogene pseudogene Approved 2p16.3 02p16.3 ribosomal protein S27a pseudogene 7 2009-03-06 2020-04-17 2020-04-17 728971 ENSG00000236549 OTTHUMG00000151835 NG_010726 19123937 PGOHUM00000298428 HGNC:35735 +HGNC:36361 RPS27AP8 RPS27A pseudogene 8 pseudogene pseudogene Approved 3q26.31 03q26.31 ribosomal protein S27a pseudogene 8 2009-03-06 2020-04-17 2020-04-17 100271375 ENSG00000237483 OTTHUMG00000156948 NG_010054 19123937 PGOHUM00000299269 HGNC:36361 +HGNC:35630 RPS27AP9 RPS27A pseudogene 9 pseudogene pseudogene Approved 5q14.1 05q14.1 ribosomal protein S27a pseudogene 9 2009-03-06 2020-04-17 2020-04-17 100271376 ENSG00000242706 OTTHUMG00000157788 NG_010060 19123937 PGOHUM00000300652 HGNC:35630 +HGNC:36570 RPS27AP10 RPS27A pseudogene 10 pseudogene pseudogene Approved 5q31.3 05q31.3 ribosomal protein S27a pseudogene 10 2009-03-06 2020-04-17 2020-04-17 100271377 ENSG00000240974 OTTHUMG00000157873 NG_009844 19123937 PGOHUM00000301147 HGNC:36570 +HGNC:36126 RPS27AP11 RPS27A pseudogene 11 pseudogene pseudogene Approved 6q21 06q21 ribosomal protein S27a pseudogene 11 2009-03-06 2020-04-17 2020-04-17 728590 ENSG00000218208 OTTHUMG00000015402 NG_010049 19123937 PGOHUM00000301922 HGNC:36126 +HGNC:35732 RPS27AP12 RPS27A pseudogene 12 pseudogene pseudogene Approved 7q36.3 07q36.3 ribosomal protein S27a pseudogene 12 2009-03-06 2020-04-17 2020-04-17 100130446 ENSG00000225224 OTTHUMG00000157241 NG_010744 19123937 PGOHUM00000303038 HGNC:35732 +HGNC:36667 RPS27AP13 RPS27A pseudogene 13 pseudogene pseudogene Approved 8q11.23 08q11.23 ribosomal protein S27a pseudogene 13 2009-03-06 2020-04-17 2020-04-17 100130300 ENSG00000244159 OTTHUMG00000158613 NG_011310 19123937 PGOHUM00000303207 HGNC:36667 +HGNC:36530 RPS27AP14 RPS27A pseudogene 14 pseudogene pseudogene Approved 9p24.3 09p24.3 ribosomal protein S27a pseudogene 14 2009-03-06 2020-04-17 2020-04-17 100271378 ENSG00000236594 OTTHUMG00000019440 NG_010076 19123937 PGOHUM00000303707 HGNC:36530 +HGNC:35817 RPS27AP15 RPS27A pseudogene 15 pseudogene pseudogene Approved 9q21.13 09q21.13 ribosomal protein S27a pseudogene 15 2009-03-06 2020-04-17 2020-04-17 100271379 ENSG00000229753 OTTHUMG00000020013 NG_010082 19123937 PGOHUM00000303934 HGNC:35817 +HGNC:36855 RPS27AP16 RPS27A pseudogene 16 pseudogene pseudogene Approved 16q21 16q21 ribosomal protein S27a pseudogene 16 2009-03-06 2020-04-17 2020-04-17 643358 ENSG00000224631 OTTHUMG00000158168 NG_010157 19123937 PGOHUM00000293625 HGNC:36855 +HGNC:36877 RPS27AP17 RPS27A pseudogene 17 pseudogene pseudogene Approved Xp22.31 Xp22.31 ribosomal protein S27a pseudogene 17 2009-03-06 2020-04-17 2020-04-17 392425 ENSG00000237490 OTTHUMG00000021099 NG_011207 19123937 PGOHUM00000304934 HGNC:36877 +HGNC:52299 RPS27AP18 RPS27A pseudogene 18 pseudogene pseudogene Approved 5q31.2 05q31.2 ribosomal protein S27a pseudogene 18 2016-06-30 2020-04-17 2020-04-17 100419548 ENSG00000249851 OTTHUMG00000163470 NG_046894 PGOHUM00000300769 HGNC:52299 +HGNC:52298 RPS27AP19 RPS27A pseudogene 19 pseudogene pseudogene Approved 19p13.2 19p13.2 ribosomal protein S27a pseudogene 19 2016-06-30 2020-04-17 2020-04-17 107985274 ENSG00000269228 OTTHUMG00000182516 XR_007067117 PGOHUM00000295175 HGNC:52298 +HGNC:54884 RPS27AP20 RPS27A pseudogene 20 pseudogene pseudogene Approved Xp22.33 Xp22.33 2020-04-17 2020-04-17 100128355 ENSG00000182888 NG_029142 +HGNC:18476 RPS27L ribosomal protein S27 like protein-coding gene gene with protein product Approved 15q22.2 15q22.2 ribosomal protein S27-like S ribosomal proteins 728 2002-05-03 2015-11-17 2016-10-05 51065 ENSG00000185088 OTTHUMG00000155301 uc002aly.4 BC003667 NM_015920 CCDS42048 Q71UM5 11042152 MGI:1915191 RGD:1595396 612055 HGNC:18476 "ENST00000330964.10|NM_015920.4" +HGNC:23740 RPS27P1 ribosomal protein S27 pseudogene 1 pseudogene pseudogene Approved 10q23.32 10q23.32 bA108M11.3 2009-03-01 2016-08-17 414228 ENSG00000223876 OTTHUMG00000018741 NG_010089 19123937 PGOHUM00000290248 HGNC:23740 +HGNC:31035 RPS27P2 ribosomal protein S27 pseudogene 2 pseudogene pseudogene Approved 15q11.2 15q11.2 HsT16324 2009-03-01 2014-11-19 654390 AC090602 NG_009534 19123937 HGNC:31035 +HGNC:17445 RPS27P3 ribosomal protein S27 pseudogene 3 pseudogene pseudogene Approved 12p13.32 12p13.32 2009-03-01 2014-11-19 654365 DQ052670 NG_005391 19123937 HGNC:17445 +HGNC:16694 RPS27P4 ribosomal protein S27 pseudogene 4 pseudogene pseudogene Approved 3p22.1 03p22.1 2009-03-01 2014-11-18 389112 NG_005671 19123937 HGNC:16694 +HGNC:36734 RPS27P5 ribosomal protein S27 pseudogene 5 pseudogene pseudogene Approved 1q42.12 01q42.12 2009-03-06 2014-11-19 100271116 ENSG00000238183 OTTHUMG00000037586 NG_010030 19123937 PGOHUM00000245226 HGNC:36734 +HGNC:36163 RPS27P6 ribosomal protein S27 pseudogene 6 pseudogene pseudogene Approved 1p13.3 01p13.3 2009-03-06 2009-03-11 100132488 NG_009590 19123937 HGNC:36163 +HGNC:35622 RPS27P7 ribosomal protein S27 pseudogene 7 pseudogene pseudogene Approved 1q25.1 01q25.1 2009-03-06 2009-03-11 100131787 NG_011053 19123937 HGNC:35622 +HGNC:36022 RPS27P8 ribosomal protein S27 pseudogene 8 pseudogene pseudogene Approved 1q32.1 01q32.1 2009-03-06 2009-03-11 653805 NG_009601 19123937 HGNC:36022 +HGNC:36964 RPS27P9 ribosomal protein S27 pseudogene 9 pseudogene pseudogene Approved 1p34.3 01p34.3 2009-03-06 2009-03-11 100131572 NG_009591 19123937 HGNC:36964 +HGNC:35961 RPS27P10 ribosomal protein S27 pseudogene 10 pseudogene pseudogene Approved 2q34 02q34 2009-03-06 2020-01-08 646233 ENSG00000231017 NG_009589 19123937 HGNC:35961 +HGNC:36014 RPS27P11 ribosomal protein S27 pseudogene 11 pseudogene pseudogene Approved 3p21.3-p21.2 03p21.3-p21.2 2009-03-06 2009-03-11 100271115 NG_010022 19123937 HGNC:36014 +HGNC:35843 RPS27P12 ribosomal protein S27 pseudogene 12 pseudogene pseudogene Approved 3q21.3 03q21.3 2009-03-06 2016-10-05 100271117 ENSG00000241673 OTTHUMG00000157373 NG_010035 19123937 PGOHUM00000237764 HGNC:35843 +HGNC:36203 RPS27P13 ribosomal protein S27 pseudogene 13 pseudogene pseudogene Approved 4p15.31 04p15.31 2009-03-06 2009-03-11 100130070 NG_010105 19123937 HGNC:36203 +HGNC:35923 RPS27P14 ribosomal protein S27 pseudogene 14 pseudogene pseudogene Approved 5q13.2 05q13.2 2009-03-06 2017-10-30 100129279 ENSG00000244717 OTTHUMG00000157737 NG_011327 19123937 PGOHUM00000300985 HGNC:35923 +HGNC:35863 RPS27P15 ribosomal protein S27 pseudogene 15 pseudogene pseudogene Approved 6q13 06q13 2009-03-06 2017-10-30 100271118 ENSG00000218459 OTTHUMG00000015037 NG_010046 19123937 PGOHUM00000301853 HGNC:35863 +HGNC:36560 RPS27P16 ribosomal protein S27 pseudogene 16 pseudogene pseudogene Approved 7p14.3 07p14.3 2009-03-06 2016-10-05 100271119 ENSG00000225907 OTTHUMG00000157133 NG_010053 19123937 PGOHUM00000233164 HGNC:36560 +HGNC:36291 RPS27P17 ribosomal protein S27 pseudogene 17 pseudogene pseudogene Approved 7q21.3 07q21.3 2009-03-06 2009-03-11 392748 NG_005350 19123937 HGNC:36291 +HGNC:36296 RPS27P18 ribosomal protein S27 pseudogene 18 pseudogene pseudogene Approved 10q26.13 10q26.13 2009-03-06 2014-11-19 100271380 ENSG00000233135 OTTHUMG00000019226 NG_010087 19123937 PGOHUM00000238647 HGNC:36296 +HGNC:36094 RPS27P19 ribosomal protein S27 pseudogene 19 pseudogene pseudogene Approved 11q23.3 11q23.3 2009-03-06 2009-03-11 100129905 NG_010583 19123937 HGNC:36094 +HGNC:36333 RPS27P20 ribosomal protein S27 pseudogene 20 pseudogene pseudogene Approved 11q24.3 11q24.3 2009-03-06 2013-09-23 100271581 ENSG00000240121 OTTHUMG00000158482 NG_011143 19123937 PGOHUM00000242928 HGNC:36333 +HGNC:35826 RPS27P21 ribosomal protein S27 pseudogene 21 pseudogene pseudogene Approved 12q12 12q12 2009-03-06 2017-03-27 100131905 ENSG00000240759 OTTHUMG00000157540 NG_010348 19123937 PGOHUM00000291309 HGNC:35826 +HGNC:36090 RPS27P22 ribosomal protein S27 pseudogene 22 pseudogene pseudogene Approved 12p12.1 12p12.1 2009-03-06 2014-11-18 100131418 ENSG00000241451 OTTHUMG00000157506 NG_010471 19123937 PGOHUM00000239706 HGNC:36090 +HGNC:35716 RPS27P23 ribosomal protein S27 pseudogene 23 pseudogene pseudogene Approved 12q23.2 12q23.2 2009-03-06 2014-11-19 100130775 ENSG00000239413 OTTHUMG00000157689 NG_011114 19123937 PGOHUM00000239906 HGNC:35716 +HGNC:37005 RPS27P24 ribosomal protein S27 pseudogene 24 pseudogene pseudogene Approved 12q14.2 12q14.2 2009-03-06 2009-03-11 100133668 NG_010194 19123937 HGNC:37005 +HGNC:36020 RPS27P25 ribosomal protein S27 pseudogene 25 pseudogene pseudogene Approved 12q24.31 12q24.31 2009-03-06 2017-10-30 100271584 ENSG00000239881 OTTHUMG00000157795 NG_011158 19123937 PGOHUM00000291821 HGNC:36020 +HGNC:36904 RPS27P26 ribosomal protein S27 pseudogene 26 pseudogene pseudogene Approved 16q22.1 16q22.1 2009-03-06 2016-10-05 100271583 ENSG00000240043 OTTHUMG00000158243 NG_011154 19123937 PGOHUM00000248924 HGNC:36904 +HGNC:36043 RPS27P27 ribosomal protein S27 pseudogene 27 pseudogene pseudogene Approved 16q21 16q21 2009-03-06 2014-11-19 100271585 ENSG00000244043 OTTHUMG00000158166 NG_011161 19123937 PGOHUM00000249151 HGNC:36043 +HGNC:36748 RPS27P28 ribosomal protein S27 pseudogene 28 pseudogene pseudogene Approved 18q12.1 18q12.1 2009-03-06 2009-03-11 100271586 NG_011166 19123937 HGNC:36748 +HGNC:36516 RPS27P29 ribosomal protein S27 pseudogene 29 pseudogene pseudogene Approved 19p12 19p12 2009-03-06 2016-07-25 100132291 ENSG00000240231 OTTHUMG00000158101 NG_011011 19123937 HGNC:36516 +HGNC:10418 RPS28 ribosomal protein S28 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "S28|eS28" 40S ribosomal protein S28 S ribosomal proteins 728 1993-12-07 2021-05-26 6234 ENSG00000233927 OTTHUMG00000182460 uc002mjn.4 D14530 NM_001031 CCDS45953 P62857 "8415000|9582194" MGI:1859516 RGD:621046 603685 412866 HGNC:10418 "ENST00000600659.3|NM_001031.5" HGNC:10418 +HGNC:23561 RPS28P1 ribosomal protein S28 pseudogene 1 pseudogene pseudogene Approved 14q23.2 14q23.2 2005-12-09 2013-09-23 652980 ENSG00000270912 OTTHUMG00000184599 AL162832 NG_005981 PGOHUM00000248202 HGNC:23561 +HGNC:36211 RPS28P2 ribosomal protein S28 pseudogene 2 pseudogene pseudogene Approved 1q41 01q41 2009-03-06 2009-03-11 100271120 NG_010059 19123937 HGNC:36211 +HGNC:36589 RPS28P3 ribosomal protein S28 pseudogene 3 pseudogene pseudogene Approved 1q42.13 01q42.13 2009-03-06 2009-03-11 644862 NG_005978 19123937 HGNC:36589 +HGNC:36208 RPS28P4 ribosomal protein S28 pseudogene 4 pseudogene pseudogene Approved 2q37.1 02q37.1 2009-03-06 2020-01-08 645899 ENSG00000237039 NG_005979 19123937 HGNC:36208 +HGNC:36802 RPS28P5 ribosomal protein S28 pseudogene 5 pseudogene pseudogene Approved 2p13.1 02p13.1 2009-03-06 2019-10-16 100271121 ENSG00000224646 NG_010066 19123937 HGNC:36802 +HGNC:36085 RPS28P6 ribosomal protein S28 pseudogene 6 pseudogene pseudogene Approved 7q11.22 07q11.22 2009-03-06 2009-03-11 728453 NG_010692 19123937 HGNC:36085 +HGNC:35787 RPS28P7 ribosomal protein S28 pseudogene 7 pseudogene pseudogene Approved 11q14.1 11q14.1 2009-03-06 2014-06-17 646195 ENSG00000227097 OTTHUMG00000158427 NG_005980 19123937 HGNC:35787 +HGNC:36938 RPS28P8 ribosomal protein S28 pseudogene 8 pseudogene pseudogene Approved 13q14.11 13q14.11 2009-03-06 2011-03-15 100271381 ENSG00000226093 OTTHUMG00000016798 NG_010096 19123937 PGOHUM00000248574 HGNC:36938 +HGNC:36193 RPS28P9 ribosomal protein S28 pseudogene 9 pseudogene pseudogene Approved 17p11.1 17p11.1 2009-03-06 2009-03-11 650788 NG_010195 19123937 HGNC:36193 +HGNC:10419 RPS29 ribosomal protein S29 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "S29|uS14" S ribosomal proteins 728 1997-07-04 2021-05-26 6235 ENSG00000213741 OTTHUMG00000140272 uc001wwm.5 L31610 NM_001030001 "CCDS9685|CCDS32072|CCDS86388" P62273 "8781548|7772601" MGI:107681 RGD:3596 LRG_1147|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1147.xml 603633 406759 HGNC:10419 "ENST00000245458.11|NM_001032.5" HGNC:10419 +HGNC:19783 RPS29P1 ribosomal protein S29 pseudogene 1 pseudogene pseudogene Approved 14q24.1 14q24.1 2009-03-01 2016-07-28 122449 ENSG00000242293 OTTHUMG00000157974 NG_002523 19123937 PGOHUM00000292393 HGNC:19783 +HGNC:31083 RPS29P2 ribosomal protein S29 pseudogene 2 pseudogene pseudogene Approved 8p11.21 08p11.21 HsT23291 2009-03-01 2016-07-28 619452 ENSG00000239281 OTTHUMG00000158607 NG_009781 19123937 PGOHUM00000303515 HGNC:31083 +HGNC:31363 RPS29P3 ribosomal protein S29 pseudogene 3 pseudogene pseudogene Approved 3q29 03q29 bcm2758 2009-03-01 2016-07-28 642892 ENSG00000225770 OTTHUMG00000155584 AC092933 NG_009392 19123937 PGOHUM00000299712 HGNC:31363 +HGNC:35908 RPS29P4 ribosomal protein S29 pseudogene 4 pseudogene pseudogene Approved 1q25.1 01q25.1 2009-03-06 2016-07-28 100271123 ENSG00000233946 OTTHUMG00000034881 NG_010081 19123937 PGOHUM00000296664 HGNC:35908 +HGNC:35584 RPS29P5 ribosomal protein S29 pseudogene 5 pseudogene pseudogene Approved 1q25.1 01q25.1 2009-03-06 2016-07-28 100271124 ENSG00000230777 OTTHUMG00000034948 NG_010086 19123937 PGOHUM00000296665 HGNC:35584 +HGNC:35718 RPS29P6 ribosomal protein S29 pseudogene 6 pseudogene pseudogene Approved 1p34.3 01p34.3 2009-03-06 2016-07-28 100270903 ENSG00000230451 OTTHUMG00000156996 NG_010290 19123937 PGOHUM00000296283 HGNC:35718 +HGNC:36594 RPS29P7 ribosomal protein S29 pseudogene 7 pseudogene pseudogene Approved 1p31.3 01p31.3 2009-03-06 2016-07-28 100128377 ENSG00000231622 OTTHUMG00000009034 NG_010628 19123937 PGOHUM00000296353 HGNC:36594 +HGNC:36915 RPS29P8 ribosomal protein S29 pseudogene 8 pseudogene pseudogene Approved 2q23.1 02q23.1 2009-03-06 2016-07-28 100132376 ENSG00000232238 OTTHUMG00000153740 NG_010119 19123937 PGOHUM00000298753 HGNC:36915 +HGNC:36913 RPS29P9 ribosomal protein S29 pseudogene 9 pseudogene pseudogene Approved 2q33.3 02q33.3 2009-03-06 2016-07-28 648343 ENSG00000223433 OTTHUMG00000154789 NG_009588 19123937 PGOHUM00000298859 HGNC:36913 +HGNC:37006 RPS29P10 ribosomal protein S29 pseudogene 10 pseudogene pseudogene Approved 2p15 02p15 2009-03-06 2016-07-28 100132037 ENSG00000226884 OTTHUMG00000152362 NG_011022 19123937 PGOHUM00000297879 HGNC:37006 +HGNC:36413 RPS29P11 ribosomal protein S29 pseudogene 11 pseudogene pseudogene Approved 4p15.2 04p15.2 2009-03-06 2016-07-28 100129902 ENSG00000242640 OTTHUMG00000157445 NG_010569 19123937 PGOHUM00000300170 HGNC:36413 +HGNC:36458 RPS29P12 ribosomal protein S29 pseudogene 12 pseudogene pseudogene Approved 5q35.3 05q35.3 2009-03-06 2016-07-28 100131173 ENSG00000243664 OTTHUMG00000157973 NG_010523 19123937 PGOHUM00000301215 HGNC:36458 +HGNC:35818 RPS29P13 ribosomal protein S29 pseudogene 13 pseudogene pseudogene Approved 6q22.1 06q22.1 2009-03-06 2016-07-28 100271122 ENSG00000217089 OTTHUMG00000015450 NG_010075 19123937 PGOHUM00000301522 HGNC:35818 +HGNC:36471 RPS29P14 ribosomal protein S29 pseudogene 14 pseudogene pseudogene Approved 7p14.3 07p14.3 2009-03-06 2016-07-28 100129599 ENSG00000229054 OTTHUMG00000152987 NG_010334 19123937 PGOHUM00000302094 HGNC:36471 +HGNC:35876 RPS29P15 ribosomal protein S29 pseudogene 15 pseudogene pseudogene Approved 7q22.1 07q22.1 2009-03-06 2016-07-28 100271241 ENSG00000235926 OTTHUMG00000157035 NG_010712 19123937 PGOHUM00000302872 HGNC:35876 +HGNC:35560 RPS29P16 ribosomal protein S29 pseudogene 16 pseudogene pseudogene Approved 7q22.1 07q22.1 2009-03-06 2016-07-28 100132499 ENSG00000235354 OTTHUMG00000157199 NG_009436 19123937 PGOHUM00000302878 HGNC:35560 +HGNC:35479 RPS29P17 ribosomal protein S29 pseudogene 17 pseudogene pseudogene Approved 9p13.3 09p13.3 2009-03-06 2016-07-28 100129379 ENSG00000227852 OTTHUMG00000019864 NG_010514 19123937 PGOHUM00000304169 HGNC:35479 +HGNC:37004 RPS29P18 ribosomal protein S29 pseudogene 18 pseudogene pseudogene Approved 9q21.33 09q21.33 2009-03-06 2009-03-11 643284 NG_011384 19123937 HGNC:37004 +HGNC:36118 RPS29P19 ribosomal protein S29 pseudogene 19 pseudogene pseudogene Approved 11q23.2 11q23.2 2009-03-06 2016-07-28 100271383 ENSG00000243353 OTTHUMG00000158462 NG_010109 19123937 PGOHUM00000290710 HGNC:36118 +HGNC:36491 RPS29P20 ribosomal protein S29 pseudogene 20 pseudogene pseudogene Approved 11p15.4 11p15.4 2009-03-06 2016-07-28 100271587 ENSG00000240385 OTTHUMG00000158282 NG_011171 19123937 PGOHUM00000290786 HGNC:36491 +HGNC:36479 RPS29P21 ribosomal protein S29 pseudogene 21 pseudogene pseudogene Approved 17q23.1 17q23.1 2009-03-06 2016-07-28 100129542 ENSG00000241913 OTTHUMG00000157891 NG_009996 19123937 PGOHUM00000294491 HGNC:36479 +HGNC:35799 RPS29P22 ribosomal protein S29 pseudogene 22 pseudogene pseudogene Approved 17q11.2 17q11.2 2009-03-06 2016-07-28 100271384 ENSG00000240873 OTTHUMG00000157761 NG_010116 19123937 PGOHUM00000294034 HGNC:35799 +HGNC:35779 RPS29P23 ribosomal protein S29 pseudogene 23 pseudogene pseudogene Approved 19p13.2 19p13.2 2009-03-06 2016-07-28 100271588 ENSG00000231361 OTTHUMG00000156401 NG_011175 19123937 PGOHUM00000295206 HGNC:35779 +HGNC:35794 RPS29P24 ribosomal protein S29 pseudogene 24 pseudogene pseudogene Approved 19q13.2 19q13.2 2009-03-06 2016-07-25 100271589 ENSG00000244253 OTTHUMG00000158191 NG_011180 19123937 PGOHUM00000295361 HGNC:35794 +HGNC:35649 RPS29P25 ribosomal protein S29 pseudogene 25 pseudogene pseudogene Approved 19q13.2 19q13.2 2009-03-06 2016-07-25 100271590 ENSG00000243581 OTTHUMG00000158190 NG_011183 19123937 PGOHUM00000295362 HGNC:35649 +HGNC:36490 RPS29P26 ribosomal protein S29 pseudogene 26 pseudogene pseudogene Approved 19q13.2 19q13.2 2009-03-06 2016-07-25 100271591 ENSG00000239320 OTTHUMG00000158189 NG_011188 19123937 PGOHUM00000295363 HGNC:36490 +HGNC:35836 RPS29P27 ribosomal protein S29 pseudogene 27 pseudogene pseudogene Approved 19q13.2 19q13.2 2009-03-06 2016-07-28 100271592 ENSG00000240320 OTTHUMG00000158194 NG_011193 19123937 PGOHUM00000295368 HGNC:35836 +HGNC:36830 RPS29P28 ribosomal protein S29 pseudogene 28 pseudogene pseudogene Approved Xq21.33 Xq21.33 2009-03-06 2016-07-28 100271402 ENSG00000232069 OTTHUMG00000021985 NG_010227 19123937 PGOHUM00000305201 HGNC:36830 +HGNC:52362 RPS29P29 ribosomal protein S29 pseudogene 29 pseudogene pseudogene Approved 1q21.3 01q21.3 2016-07-29 2020-04-06 109729145 ENSG00000233717 OTTHUMG00000012215 NG_052940 PGOHUM00000295894 HGNC:52362 +HGNC:52363 RPS29P30 ribosomal protein S29 pseudogene 30 pseudogene pseudogene Approved 19q13.2 19q13.2 2016-07-29 2016-07-29 107987273 ENSG00000268243 OTTHUMG00000183082 PGOHUM00000295365 HGNC:52363 +HGNC:52364 RPS29P31 ribosomal protein S29 pseudogene 31 pseudogene pseudogene Approved 22q13.1 22q13.1 2016-07-29 2020-04-06 109729124 ENSG00000224279 OTTHUMG00000155623 NG_052941 PGOHUM00000297537 HGNC:52364 +HGNC:52365 RPS29P32 ribosomal protein S29 pseudogene 32 pseudogene pseudogene Approved 6q23.2 06q23.2 2016-07-29 2020-04-06 109729158 ENSG00000276703 OTTHUMG00000187663 NG_052942 PGOHUM00000301955 HGNC:52365 +HGNC:52366 RPS29P33 ribosomal protein S29 pseudogene 33 pseudogene pseudogene Approved 9p22.2 09p22.2 2016-07-29 2016-07-29 107987018 ENSG00000226470 OTTHUMG00000019595 PGOHUM00000303740 HGNC:52366 +HGNC:6502 RPSA ribosomal protein SA protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "LRP|37LRP|p40|SA" LAMR1 laminin receptor 1 (67kD, ribosomal protein SA) "S ribosomal proteins|Small nucleolar RNA protein coding host genes" "728|1835" 1992-06-03 2005-02-11 2002-08-29 2021-04-13 3921 ENSG00000168028 OTTHUMG00000131296 uc003cjp.4 S37431 NM_002295 "CCDS77723|CCDS2686" P08865 "1534510|8760291" MGI:105381 RGD:71026 LRG_735|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_735.xml 150370 357229 HGNC:6502 "ENST00000301821.11|NM_002295.6" HGNC:6502 +HGNC:16560 RPSAP1 ribosomal protein SA pseudogene 1 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ1193N1.1 "LAMR1P|LAMR1P1" laminin receptor 1 pseudogene 1 2009-03-01 2006-01-16 2006-01-16 2015-08-24 170529 ENSG00000228820 OTTHUMG00000032746 AL121915 NG_001045 19123937 PGOHUM00000297020 HGNC:16560 +HGNC:18771 RPSAP2 ribosomal protein SA pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 bA60E24.1 LAMR1P2 laminin receptor 1 pseudogene 2 2009-03-01 2006-01-16 2006-01-16 2015-08-24 442181 ENSG00000237425 OTTHUMG00000147353 NG_009790 19123937 PGOHUM00000301718 HGNC:18771 +HGNC:19792 RPSAP3 ribosomal protein SA pseudogene 3 pseudogene pseudogene Approved 14q24.3 14q24.3 LAMR1P3 laminin receptor 1 pseudogene 3 2009-03-01 2006-01-16 2006-01-16 2015-08-24 158674 ENSG00000242952 OTTHUMG00000158059 NG_002489 19123937 PGOHUM00000292413 HGNC:19792 +HGNC:20018 RPSAP4 ribosomal protein SA pseudogene 4 pseudogene pseudogene Approved 14q32.13 14q32.13 LAMR1P4 laminin receptor 1 pseudogene 4 2009-03-01 2006-01-16 2006-01-16 2015-08-24 145259 ENSG00000239269 OTTHUMG00000158121 NG_002486 19123937 PGOHUM00000292756 HGNC:20018 +HGNC:20139 RPSAP5 ribosomal protein SA pseudogene 5 pseudogene pseudogene Approved 14q32.32 14q32.32 LAMR1P5 laminin receptor 1 pseudogene 5 2009-03-01 2006-01-16 2006-01-16 2015-08-24 319129 ENSG00000243904 OTTHUMG00000158144 NG_002507 19123937 PGOHUM00000292453 HGNC:20139 +HGNC:31458 RPSAP6 ribosomal protein SA pseudogene 6 pseudogene pseudogene Approved 10q22.2 10q22.2 AC022026.3 LAMR1P6 laminin receptor 1 pseudogene 6 2009-03-01 2006-01-16 2006-01-16 2015-08-24 414254 ENSG00000214629 OTTHUMG00000018500 NG_009794 19123937 PGOHUM00000290206 HGNC:31458 +HGNC:31461 RPSAP7 ribosomal protein SA pseudogene 7 pseudogene pseudogene Approved 10p13 10p13 LAMR1P7 laminin receptor 1 pseudogene 7 2009-03-01 2015-08-24 654506 ENSG00000237032 OTTHUMG00000017711 AC069544.9 NG_007324 19123937 PGOHUM00000289749 HGNC:31461 +HGNC:31462 RPSAP8 ribosomal protein SA pseudogene 8 pseudogene pseudogene Approved Xq22.1 Xq22.1 LAMR1P8 laminin receptor 1 pseudogene 8 2009-03-01 2006-01-16 2006-01-16 2020-04-20 643617 ENSG00000230592 OTTHUMG00000021999 NG_007295 19123937 PGOHUM00000304773 HGNC:31462 +HGNC:31463 RPSAP9 ribosomal protein SA pseudogene 9 pseudogene pseudogene Approved 9q21.13 09q21.13 LAMR1P9 laminin receptor 1 pseudogene 9 2009-03-01 2006-01-16 2006-01-16 2015-08-24 653162 ENSG00000234618 OTTHUMG00000020041 NR_026890 19123937 PGOHUM00000304329 HGNC:31463 +HGNC:31460 RPSAP10 ribosomal protein SA pseudogene 10 pseudogene pseudogene Approved 10p12.1 10p12.1 LAMR1P10 2009-03-01 2016-10-05 401638 ENSG00000224439 OTTHUMG00000017870 NG_009741 19123937 PGOHUM00000290079 HGNC:31460 +HGNC:6503 RPSAP11 ribosomal protein SA pseudogene 11 pseudogene pseudogene Approved 3p22.3 03p22.3 "LAMR|LAMRP1" "LAMRL1|LAMR1P11" "laminin receptor-like 1|laminin receptor 1 pseudogene 11" 2009-03-01 2006-01-16 2006-01-16 2020-04-20 645326 ENSG00000237433 OTTHUMG00000155857 NG_006441 "1649122|19123937" PGOHUM00000299388 HGNC:6503 +HGNC:6504 RPSAP12 ribosomal protein SA pseudogene 12 pseudogene pseudogene Approved 12q15 12q15 LAMRP2 "LAMRL2|LAMR1P12" "laminin receptor-like 2|laminin receptor 1 pseudogene 12" 2009-03-01 2006-01-16 2006-01-16 2015-08-24 387867 ENSG00000240087 OTTHUMG00000157612 NG_010141 "1649122|19123937" HGNC:6504 +HGNC:6505 RPSAP13 ribosomal protein SA pseudogene 13 pseudogene pseudogene Approved 14q22.3 14q22.3 LAMRP3 "LAMRL3|LAMR1P13" "laminin receptor-like 3|laminin receptor 1 pseudogene 13" 2009-03-01 2006-01-16 2006-01-16 2015-08-24 3923 ENSG00000233924 OTTHUMG00000150485 NG_010441 "1649122|19123937" PGOHUM00000292358 HGNC:6505 +HGNC:6506 RPSAP14 ribosomal protein SA pseudogene 14 pseudogene pseudogene Approved Xq13.2 Xq13.2 LAMRP4 "LAMRL4|LAMR1P14" "laminin receptor-like 4|laminin receptor 1 pseudogene 14" 1990-11-09 2006-01-16 2006-01-16 2015-08-24 3924 ENSG00000233984 OTTHUMG00000021841 L15458 NG_004075 1649122 PGOHUM00000305148 HGNC:6506 +HGNC:31464 RPSAP15 ribosomal protein SA pseudogene 15 pseudogene pseudogene Approved Xq21.31 Xq21.31 LAMRL5 LAMR1P15 laminin receptor 1 pseudogene 15 2009-03-01 2006-01-16 2006-01-16 2014-11-19 220885 ENSG00000237506 OTTHUMG00000021947 AF284768 NG_011100 "9461426|19123937" HGNC:31464 +HGNC:35478 RPSAP16 ribosomal protein SA pseudogene 16 pseudogene pseudogene Approved 1q25.2 01q25.2 2009-03-06 2016-10-05 100270872 ENSG00000235145 OTTHUMG00000035260 NG_010115 19123937 PGOHUM00000296676 HGNC:35478 +HGNC:35707 RPSAP17 ribosomal protein SA pseudogene 17 pseudogene pseudogene Approved 1q21.3 01q21.3 2009-03-06 2016-10-05 100270873 ENSG00000226855 OTTHUMG00000036074 NG_010120 19123937 PGOHUM00000295903 HGNC:35707 +HGNC:36106 RPSAP18 ribosomal protein SA pseudogene 18 pseudogene pseudogene Approved 1q23.2 01q23.2 2009-03-06 2015-08-24 388707 ENSG00000224261 OTTHUMG00000031608 NG_010515 19123937 PGOHUM00000295928 HGNC:36106 +HGNC:36508 RPSAP19 ribosomal protein SA pseudogene 19 pseudogene pseudogene Approved 1p21.2 01p21.2 2009-03-06 2016-10-05 730029 ENSG00000183298 OTTHUMG00000010943 NG_007325 19123937 HGNC:36508 +HGNC:35595 RPSAP20 ribosomal protein SA pseudogene 20 pseudogene pseudogene Approved 1p32.2 01p32.2 2009-03-06 2015-08-24 127406 ENSG00000229871 OTTHUMG00000008127 NG_010906 19123937 PGOHUM00000295691 HGNC:35595 +HGNC:36928 RPSAP21 ribosomal protein SA pseudogene 21 pseudogene pseudogene Approved 1q43 01q43 2009-03-06 2015-08-24 729079 ENSG00000226498 OTTHUMG00000040062 NG_009605 19123937 PGOHUM00000296825 HGNC:36928 +HGNC:36435 RPSAP22 ribosomal protein SA pseudogene 22 pseudogene pseudogene Approved 2p11.2 02p11.2 2009-03-06 2015-08-24 100270874 ENSG00000229648 OTTHUMG00000153083 NG_010126 19123937 PGOHUM00000297944 HGNC:36435 +HGNC:36742 RPSAP23 ribosomal protein SA pseudogene 23 pseudogene pseudogene Approved 2q14.1 02q14.1 2009-03-06 2015-08-24 100270875 ENSG00000230391 OTTHUMG00000153316 NG_010135 19123937 PGOHUM00000298652 HGNC:36742 +HGNC:36362 RPSAP24 ribosomal protein SA pseudogene 24 pseudogene pseudogene Approved 2q31.1 02q31.1 2009-03-06 2015-08-24 391462 ENSG00000235414 OTTHUMG00000154134 NG_010206 19123937 PGOHUM00000298792 HGNC:36362 +HGNC:36405 RPSAP25 ribosomal protein SA pseudogene 25 pseudogene pseudogene Approved 2q31.1 02q31.1 2009-03-06 2015-08-24 129841 ENSG00000230384 OTTHUMG00000154406 NG_010261 19123937 PGOHUM00000298797 HGNC:36405 +HGNC:36195 RPSAP26 ribosomal protein SA pseudogene 26 pseudogene pseudogene Approved 2p15 02p15 2009-03-06 2015-08-24 729209 ENSG00000242735 OTTHUMG00000152513 NG_010627 19123937 HGNC:36195 +HGNC:36650 RPSAP27 ribosomal protein SA pseudogene 27 pseudogene pseudogene Approved 2q34 02q34 2009-03-06 2015-08-24 130429 ENSG00000233869 OTTHUMG00000154639 NG_010650 19123937 PGOHUM00000298862 HGNC:36650 +HGNC:35612 RPSAP28 ribosomal protein SA pseudogene 28 pseudogene pseudogene Approved 2p13.1 02p13.1 2009-03-06 2015-08-24 391387 ENSG00000214484 OTTHUMG00000152772 NG_011134 19123937 PGOHUM00000298472 HGNC:35612 +HGNC:36680 RPSAP29 ribosomal protein SA pseudogene 29 pseudogene pseudogene Approved 3q13.13 03q13.13 2009-03-06 2015-08-24 389141 ENSG00000244722 OTTHUMG00000157345 NG_010100 19123937 PGOHUM00000299128 HGNC:36680 +HGNC:35861 RPSAP30 ribosomal protein SA pseudogene 30 pseudogene pseudogene Approved 3q29 03q29 2009-03-06 2009-03-11 728126 NG_010326 19123937 HGNC:35861 +HGNC:35558 RPSAP31 ribosomal protein SA pseudogene 31 pseudogene pseudogene Approved 3q27.1 03q27.1 2009-03-06 2015-08-24 391598 ENSG00000234371 OTTHUMG00000156888 NG_010907 19123937 PGOHUM00000299682 HGNC:35558 +HGNC:50310 RPSAP32 ribosomal protein SA pseudogene 32 pseudogene pseudogene Approved 3p26.3 03p26.3 2014-04-07 2015-08-24 402123 ENSG00000238075 OTTHUMG00000154877 NG_006138 PGOHUM00000298930 HGNC:50310 +HGNC:35556 RPSAP33 ribosomal protein SA pseudogene 33 pseudogene pseudogene Approved 3q26.2 03q26.2 2009-03-06 2015-08-24 647158 ENSG00000226765 OTTHUMG00000157292 NG_011277 19123937 PGOHUM00000307594 HGNC:35556 +HGNC:36643 RPSAP34 ribosomal protein SA pseudogene 34 pseudogene pseudogene Approved 4q25 04q25 2009-03-06 2015-08-24 100270876 ENSG00000239939 OTTHUMG00000157535 NG_010142 19123937 PGOHUM00000299946 HGNC:36643 +HGNC:36447 RPSAP35 ribosomal protein SA pseudogene 35 pseudogene pseudogene Approved 4q26 04q26 2009-03-06 2015-08-24 100270916 ENSG00000237684 OTTHUMG00000059446 NG_010360 19123937 PGOHUM00000300342 HGNC:36447 +HGNC:35727 RPSAP36 ribosomal protein SA pseudogene 36 pseudogene pseudogene Approved 4q31.21 04q31.21 2009-03-06 2015-08-24 100128888 ENSG00000243175 OTTHUMG00000157578 NG_010623 19123937 PGOHUM00000300389 HGNC:35727 +HGNC:35844 RPSAP37 ribosomal protein SA pseudogene 37 pseudogene pseudogene Approved 5q23.2 05q23.2 2009-03-06 2015-08-24 100270915 ENSG00000241888 OTTHUMG00000157839 NG_010356 19123937 PGOHUM00000300742 HGNC:35844 +HGNC:35963 RPSAP38 ribosomal protein SA pseudogene 38 pseudogene pseudogene Approved 5p13.1 05p13.1 2009-03-06 2015-08-24 100130676 ENSG00000239694 OTTHUMG00000157678 NG_010603 19123937 PGOHUM00000300565 HGNC:35963 +HGNC:37040 RPSAP39 ribosomal protein SA pseudogene 39 pseudogene pseudogene Approved 4q21.21 04q21.21 2009-03-06 2015-08-24 100131161 ENSG00000244002 OTTHUMG00000157504 NG_010466 19123937 PGOHUM00000300272 HGNC:37040 +HGNC:36828 RPSAP40 ribosomal protein SA pseudogene 40 pseudogene pseudogene Approved 6q25.1 06q25.1 2009-03-06 2015-08-24 100270917 ENSG00000231368 OTTHUMG00000015776 NG_010364 19123937 PGOHUM00000301590 HGNC:36828 +HGNC:36663 RPSAP41 ribosomal protein SA pseudogene 41 pseudogene pseudogene Approved 6q13 06q13 2009-03-06 2015-08-24 100270918 ENSG00000239626 OTTHUMG00000086817 NG_010368 19123937 PGOHUM00000301849 HGNC:36663 +HGNC:36265 RPSAP42 ribosomal protein SA pseudogene 42 pseudogene pseudogene Approved 6q23.3 06q23.3 2009-03-06 2015-08-24 100270919 ENSG00000219463 OTTHUMG00000015666 NG_010380 19123937 PGOHUM00000307604 HGNC:36265 +HGNC:35501 RPSAP43 ribosomal protein SA pseudogene 43 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2015-08-24 643954 ENSG00000216471 OTTHUMG00000015413 NG_010589 19123937 PGOHUM00000301515 HGNC:35501 +HGNC:36891 RPSAP44 ribosomal protein SA pseudogene 44 pseudogene pseudogene Approved 6p12.1 06p12.1 2009-03-06 2015-08-24 652411 ENSG00000220773 OTTHUMG00000014895 NG_010638 19123937 PGOHUM00000301818 HGNC:36891 +HGNC:35857 RPSAP45 ribosomal protein SA pseudogene 45 pseudogene pseudogene Approved 6q21 06q21 2009-03-06 2015-08-24 728562 ENSG00000219773 OTTHUMG00000015389 NG_011251 19123937 PGOHUM00000301510 HGNC:35857 +HGNC:36082 RPSAP46 ribosomal protein SA pseudogene 46 pseudogene pseudogene Approved 7q22.1 07q22.1 2009-03-06 2015-08-24 652624 ENSG00000213394 OTTHUMG00000157104 NG_010431 19123937 PGOHUM00000302368 HGNC:36082 +HGNC:36162 RPSAP47 ribosomal protein SA pseudogene 47 pseudogene pseudogene Approved 8q21.13 08q21.13 2009-03-06 2015-08-24 389672 ENSG00000188856 OTTHUMG00000158642 NG_010220 19123937 HGNC:36162 +HGNC:36646 RPSAP48 ribosomal protein SA pseudogene 48 pseudogene pseudogene Approved 8q23.2 08q23.2 2009-03-06 2015-08-24 392262 ENSG00000240590 OTTHUMG00000158689 NG_010379 19123937 PGOHUM00000303354 HGNC:36646 +HGNC:35660 RPSAP49 ribosomal protein SA pseudogene 49 pseudogene pseudogene Approved 9q22.1 09q22.1 2009-03-06 2015-08-24 401537 ENSG00000226327 OTTHUMG00000020167 NG_010669 19123937 PGOHUM00000304371 HGNC:35660 +HGNC:35896 RPSAP50 ribosomal protein SA pseudogene 50 pseudogene pseudogene Approved 11q22.3 11q22.3 2009-03-06 2015-08-24 644109 ENSG00000224776 OTTHUMG00000158453 NG_010040 19123937 PGOHUM00000291129 HGNC:35896 +HGNC:36224 RPSAP51 ribosomal protein SA pseudogene 51 pseudogene pseudogene Approved 12p13.31 12p13.31 2009-03-06 2015-08-24 100271267 ENSG00000244131 OTTHUMG00000157454 NG_010852 19123937 PGOHUM00000291533 HGNC:36224 +HGNC:35752 RPSAP52 ribosomal protein SA pseudogene 52 pseudogene pseudogene Approved 12q14.3 12q14.3 2009-03-06 2020-01-10 204010 ENSG00000241749 OTTHUMG00000157608 NR_026825 "19123937|31831098" PGOHUM00000291386 HGNC:35752 +HGNC:36641 RPSAP53 ribosomal protein SA pseudogene 53 pseudogene pseudogene Approved 13q21.32 13q21.32 2009-03-06 2015-08-24 400141 ENSG00000214263 OTTHUMG00000017039 NG_010038 19123937 PGOHUM00000291983 HGNC:36641 +HGNC:36373 RPSAP54 ribosomal protein SA pseudogene 54 pseudogene pseudogene Approved 13q12.11 13q12.11 2009-03-06 2015-08-24 642641 ENSG00000213621 OTTHUMG00000016525 NG_011364 19123937 PGOHUM00000292079 HGNC:36373 +HGNC:36921 RPSAP55 ribosomal protein SA pseudogene 55 pseudogene pseudogene Approved 15q21.3 15q21.3 2009-03-06 2015-08-24 388122 ENSG00000214896 OTTHUMG00000157924 NG_010133 19123937 PGOHUM00000293244 HGNC:36921 +HGNC:36018 RPSAP56 ribosomal protein SA pseudogene 56 pseudogene pseudogene Approved 16q22.3 16q22.3 2009-03-06 2020-06-17 645656 ENSG00000284670 NG_011353 19123937 PGOHUM00000293655 HGNC:36018 +HGNC:35889 RPSAP57 ribosomal protein SA pseudogene 57 pseudogene pseudogene Approved 18q21.2 18q21.2 2009-03-06 2015-08-24 390857 ENSG00000267524 OTTHUMG00000158251 NG_011042 19123937 PGOHUM00000294792 HGNC:35889 +HGNC:36809 RPSAP58 ribosomal protein SA pseudogene 58 other unknown Approved 19p12 19p12 2009-03-06 2019-06-27 388524 ENSG00000225178 OTTHUMG00000158122 NM_001355283 19123937 HGNC:36809 "ENST00000484897.4|NM_001355283.3" +HGNC:36957 RPSAP59 ribosomal protein SA pseudogene 59 pseudogene pseudogene Approved Xq22.1 Xq22.1 2009-03-06 2015-08-24 100271148 ENSG00000233071 OTTHUMG00000022090 NG_010239 19123937 PGOHUM00000304789 HGNC:36957 +HGNC:36331 RPSAP60 ribosomal protein SA pseudogene 60 pseudogene pseudogene Approved Xq28 Xq28 2009-03-06 2015-08-24 100271149 ENSG00000228965 OTTHUMG00000024177 NG_010242 19123937 PGOHUM00000304903 HGNC:36331 +HGNC:36760 RPSAP61 ribosomal protein SA pseudogene 61 pseudogene pseudogene Approved Xp11.3 Xp11.3 2009-03-06 2015-08-24 644464 ENSG00000214016 OTTHUMG00000021400 NG_010579 19123937 PGOHUM00000305031 HGNC:36760 +HGNC:35583 RPSAP62 ribosomal protein SA pseudogene 62 pseudogene pseudogene Approved Xp11.22 Xp11.22 2009-03-06 2015-08-24 100131469 ENSG00000226299 OTTHUMG00000021611 NG_010739 19123937 PGOHUM00000305084 HGNC:35583 +HGNC:35581 RPSAP63 ribosomal protein SA pseudogene 63 pseudogene pseudogene Approved Xq26.2 Xq26.2 2009-03-06 2015-08-24 100270755 ENSG00000233260 OTTHUMG00000022445 NG_009640 19123937 PGOHUM00000305328 HGNC:35581 +HGNC:39642 RPSAP64 ribosomal protein SA pseudogene 64 pseudogene pseudogene Approved 21q22.2 21q22.2 2011-03-17 2015-08-24 100873797 ENSG00000227721 OTTHUMG00000086703 NG_032334 PGOHUM00000306002 HGNC:39642 +HGNC:51914 RPSAP65 ribosomal protein SA pseudogene 65 pseudogene pseudogene Approved 1p31.3 01p31.3 2015-10-06 2020-04-06 107075109 ENSG00000223683 OTTHUMG00000013352 NG_046548 PGOHUM00000296350 HGNC:51914 +HGNC:51916 RPSAP66 ribosomal protein SA pseudogene 66 pseudogene pseudogene Approved 17q23.2 17q23.2 2015-10-06 2020-04-06 107075110 ENSG00000266943 OTTHUMG00000180051 NG_046549 PGOHUM00000307545 HGNC:51916 +HGNC:51918 RPSAP67 ribosomal protein SA pseudogene 67 pseudogene pseudogene Approved 17q24.2 17q24.2 2015-10-06 2020-04-06 107075111 ENSG00000266858 OTTHUMG00000179778 NG_046550 PGOHUM00000307546 HGNC:51918 +HGNC:51920 RPSAP68 ribosomal protein SA pseudogene 68 pseudogene pseudogene Approved 21p11.2 21p11.2 2015-10-06 2015-10-06 100996520 ENSG00000279990 OTTHUMG00000189475 PGOHUM00000297307 HGNC:51920 +HGNC:51922 RPSAP69 ribosomal protein SA pseudogene 69 pseudogene pseudogene Approved 3q29 03q29 2015-10-06 2015-10-06 101927158 ENSG00000233487 OTTHUMG00000155521 PGOHUM00000299319 HGNC:51922 +HGNC:51923 RPSAP70 ribosomal protein SA pseudogene 70 pseudogene pseudogene Approved 4q35.1 04q35.1 2015-10-06 2015-10-06 105377595 ENSG00000250327 OTTHUMG00000160361 NG_052646 PGOHUM00000307597 HGNC:51923 +HGNC:51924 RPSAP71 ribosomal protein SA pseudogene 71 pseudogene pseudogene Approved 5q35.1 05q35.1 2015-10-06 2020-04-06 107075249 ENSG00000254256 OTTHUMG00000163206 NG_046551 PGOHUM00000301182 HGNC:51924 +HGNC:51925 RPSAP72 ribosomal protein SA pseudogene 72 pseudogene pseudogene Approved 6q14.1 06q14.1 2015-10-06 2020-04-06 107075112 ENSG00000219361 OTTHUMG00000015093 NG_046552 PGOHUM00000301446 HGNC:51925 +HGNC:51926 RPSAP73 ribosomal protein SA pseudogene 73 pseudogene pseudogene Approved 7p22.1 07p22.1 2015-10-06 2020-04-06 107075250 ENSG00000274319 OTTHUMG00000187658 NG_046553 PGOHUM00000302513 HGNC:51926 +HGNC:51928 RPSAP74 ribosomal protein SA pseudogene 74 pseudogene pseudogene Approved 8q21.3 08q21.3 2015-10-06 2020-04-06 107075113 ENSG00000253621 OTTHUMG00000163773 NG_054738 PGOHUM00000303299 HGNC:51928 +HGNC:51929 RPSAP75 ribosomal protein SA pseudogene 75 pseudogene pseudogene Approved 9q21.13 09q21.13 2015-10-06 2020-04-06 107075114 ENSG00000270954 OTTHUMG00000184697 NG_046554 PGOHUM00000304327 HGNC:51929 +HGNC:51930 RPSAP76 ribosomal protein SA pseudogene 76 pseudogene pseudogene Approved 9q33.3 09q33.3 2015-10-06 2015-10-06 101927006 ENSG00000235332 OTTHUMG00000020670 PGOHUM00000304053 HGNC:51930 +HGNC:26809 RPTN repetin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ39117 "EF-hand domain containing|S100 fused type protein family" "863|1350" 2005-06-13 2018-11-19 126638 ENSG00000215853 OTTHUMG00000154095 uc001ezs.1 AK096436 NM_001122965 CCDS41397 Q6XPR3 15854042 MGI:1099055 RGD:1311687 613259 HGNC:26809 "ENST00000316073.3|NM_001122965.1" +HGNC:30287 RPTOR regulatory associated protein of MTOR complex 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KOG1|Mip1|KIAA1303|raptor" regulatory associated protein of mTOR regulatory associated protein of MTOR, complex 1 "WD repeat domain containing|MTOR complex 1|Armadillo like helical domain containing" "362|1332|1492" 2009-05-29 2016-04-01 2020-04-01 57521 ENSG00000141564 OTTHUMG00000177622 uc002jyt.2 NM_020761 "CCDS11773|CCDS54175" Q8N122 "10718198|12150926" MGI:1921620 RGD:1311784 607130 471010 HGNC:30287 "ENST00000306801.8|NM_020761.3" +HGNC:14173 RPUSD1 RNA pseudouridine synthase domain containing 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "RLUCL|MGC19600" C16orf40 "chromosome 16 open reading frame 40|RNA pseudouridylate synthase domain containing 1" "RNA pseudouridylate synthase domain containing|Pseudouridine synthases" "727|1665" 2000-12-21 2005-01-31 2018-09-12 2018-09-12 113000 ENSG00000007376 OTTHUMG00000047840 uc002ckb.3 AE006465 NM_058192 "CCDS10426|CCDS81924|CCDS81923" Q9UJJ7 MGI:1919186 RGD:1304934 HGNC:14173 "ENST00000007264.7|NM_058192.3" +HGNC:24180 RPUSD2 RNA pseudouridine synthase domain containing 2 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "C18B11|FLJ31409|PUS9" C15orf19 "chromosome 15 open reading frame 19|RNA pseudouridylate synthase domain containing 2" "RNA pseudouridylate synthase domain containing|Pseudouridine synthases" "727|1665" 2004-07-02 2005-02-07 2018-09-12 2018-09-12 27079 ENSG00000166133 OTTHUMG00000130031 uc001zmd.3 AK055971 NM_152260 "CCDS10061|CCDS66737" Q8IZ73 12477932 MGI:1918066 RGD:1306147 HGNC:24180 "ENST00000315616.12|NM_152260.3" +HGNC:28437 RPUSD3 RNA pseudouridine synthase D3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 MGC29784 RNA pseudouridylate synthase domain containing 3 "RNA pseudouridylate synthase domain containing|Pseudouridine synthases" "727|1665" 2005-01-31 2018-09-12 2018-09-12 285367 ENSG00000156990 OTTHUMG00000128441 uc011atk.3 BC032135 NM_173659 CCDS87038 Q6P087 27974379 MGI:2141440 RGD:1307582 617759 HGNC:28437 +HGNC:25898 RPUSD4 RNA pseudouridine synthase D4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ14494 RNA pseudouridylate synthase domain containing 4 "RNA pseudouridylate synthase domain containing|Pseudouridine synthases" "727|1665" 2005-01-31 2018-09-12 2018-09-12 84881 ENSG00000165526 OTTHUMG00000165815 uc001qde.3 BC014131 NM_032795 "CCDS8469|CCDS53721" Q96CM3 28082677 MGI:1919239 RGD:1311268 617488 HGNC:25898 "ENST00000298317.9|NM_032795.3" +HGNC:10446 RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "REM3|RAD" "Ras-related associated with diabetes|RRAD, Ras related glycolysis inihibitor and calcium channel regulator" RGK type GTPase family 1260 1995-12-11 2016-05-16 2020-11-17 6236 ENSG00000166592 OTTHUMG00000137511 uc002eqo.3 L24564 NM_004165 CCDS10824 P55042 "7859947|24992013|25114038|26546438" MGI:1930943 RGD:69357 179503 HGNC:10446 "ENST00000299759.11|NM_004165.3" HGNC:10446 +HGNC:16963 RRAGA Ras related GTP binding A protein-coding gene gene with protein product Approved 9p22.1 09p22.1 "RAGA|FIP-1" Ras-related GTP binding A Ras related GTP binding proteins 1984 2003-07-07 2016-02-23 2016-10-05 10670 ENSG00000155876 OTTHUMG00000019621 uc003znj.4 BC006433 NM_006570 CCDS6488 Q7L523 "7499430|8995684" MGI:1915691 RGD:619804 612194 HGNC:16963 "ENST00000380527.3|NM_006570.5" +HGNC:20242 RRAGAP1 Ras related GTP binding A pseudogene 1 pseudogene pseudogene Approved 14q21.2 14q21.2 RRAGAP "Ras-related GTP binding A pseudogene|Ras-related GTP binding A pseudogene 1" 2003-12-10 2010-03-05 2016-02-23 2020-04-07 100462776 ENSG00000259046 OTTHUMG00000170721 NG_027270 12508121 PGOHUM00000247790 HGNC:20242 +HGNC:55445 RRAGAP1-AS1 RRAGAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q21.2 14q21.2 Antisense RNAs 1987 2021-01-14 2021-01-14 120766148 ENSG00000258633 +HGNC:19901 RRAGB Ras related GTP binding B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 Ras-related GTP binding B Ras related GTP binding proteins 1984 2003-07-07 2016-02-23 2016-02-23 10325 ENSG00000083750 OTTHUMG00000021662 uc004dup.4 X90530 NM_016656 "CCDS14371|CCDS14372" Q5VZM2 "7499430|9394008" MGI:3038613 RGD:619805 300725 HGNC:19901 "ENST00000374941.9|NM_006064.5" +HGNC:19902 RRAGC Ras related GTP binding C protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "GTR2|FLJ13311" Ras-related GTP binding C Ras related GTP binding proteins 1984 2003-07-07 2016-02-23 2016-10-05 64121 ENSG00000116954 OTTHUMG00000000490 uc001ccq.4 AF323609 NM_022157 CCDS430 Q9HB90 11073942 MGI:1858751 RGD:1311760 608267 HGNC:19902 "ENST00000373001.4|NM_022157.4" +HGNC:55793 RRAGC-DT RRAGC divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 Divergent transcripts 1990 2021-07-28 2021-07-28 122152324 ENSG00000228436 +HGNC:19903 RRAGD Ras related GTP binding D protein-coding gene gene with protein product Approved 6q15 06q15 "DKFZP761H171|bA11D8.2.1" Ras-related GTP binding D Ras related GTP binding proteins 1984 2003-07-07 2016-02-23 2016-02-23 58528 ENSG00000025039 OTTHUMG00000015200 uc003pnd.5 AF272036 NM_021244 CCDS5022 Q9NQL2 11073942 MGI:1098604 RGD:1310007 608268 HGNC:19903 "ENST00000369415.9|NM_021244.5" +HGNC:10447 RRAS RAS related protein-coding gene gene with protein product Approved 19q13.33 19q13.33 R-Ras Oncogene RRAS related RAS viral (r-ras) oncogene homolog RAS type GTPase family 389 2001-06-22 2017-08-02 2019-08-20 6237 ENSG00000126458 OTTHUMG00000183247 uc002pop.2 NM_006270 CCDS12774 P10301 3098437 MGI:98179 RGD:1311443 165090 471012 HGNC:10447 "ENST00000246792.4|NM_006270.5" HGNC:10447 +HGNC:17271 RRAS2 RAS related 2 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 TC21 related RAS viral (r-ras) oncogene homolog 2 RAS type GTPase family 389 2001-11-30 2017-08-02 2017-08-02 22800 ENSG00000133818 OTTHUMG00000165756 uc001mlf.5 M31468 NM_012250 "CCDS53603|CCDS7814|CCDS44544" P62070 "2108320|8052619" MGI:1914172 RGD:1310793 600098 HGNC:17271 "ENST00000256196.9|NM_012250.6" HGNC:17271 +HGNC:54561 RRAS2P1 RRAS2 pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 2019-10-16 2019-10-16 100133211 ENSG00000236360 NG_016982 +HGNC:54562 RRAS2P2 RRAS2 pseudogene 2 pseudogene pseudogene Approved 2q36.1 02q36.1 2019-10-16 2019-10-16 100384885 ENSG00000233751 NG_016988 +HGNC:10448 RRBP1 ribosome binding protein 1 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "ES/130|hES|p180" "ribosomal receptor-binding protein 1|endoplasmic reticulum ribosome-binding protein 1" "ribosome binding protein 1 (dog 180kD homolog)|ribosome binding protein 1 homolog 180kDa (dog)" 1998-03-20 2012-12-07 2021-06-11 6238 ENSG00000125844 OTTHUMG00000031945 uc002wpw.2 AB037819 NM_001042576 CCDS13128 Q9P2E9 "8812507|19932094|28441135" MGI:1932395 RGD:1306536 601418 HGNC:10448 "ENST00000377813.6|NM_001365613.2" +HGNC:55607 RRBP1P1 RRBP1 pseudogene 1 pseudogene pseudogene Approved 7p12.1 07p12.1 2021-06-11 2021-06-11 392027 ENSG00000223970 NG_006571 PGOHUM00000302624 +HGNC:55608 RRBP1P2 RRBP1 pseudogene 2 pseudogene pseudogene Approved 3p24.3 03p24.3 2021-06-11 2021-06-11 100421669 ENSG00000271235 NG_025556 PGOHUM00000298969 +HGNC:10449 RREB1 ras responsive element binding protein 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 HNT hindsight homolog (drosophila) Zinc fingers C2H2-type 28 1997-08-18 2016-10-05 6239 ENSG00000124782 OTTHUMG00000014201 uc003mxb.4 U26914 NM_001003698 "CCDS34336|CCDS34335|CCDS54963" Q92766 "9367691|18394891" MGI:2443664 RGD:1310904 602209 458274 HGNC:10449 "ENST00000379938.7|NM_001003699.4" +HGNC:10450 RRH retinal pigment epithelium-derived rhodopsin homolog protein-coding gene gene with protein product Approved 4q25 04q25 peropsin peropsin Opsin receptors 215 1999-06-10 2015-08-25 10692 ENSG00000180245 OTTHUMG00000132045 uc003hzv.4 AF012270 NM_006583 CCDS3687 O14718 9275222 MGI:1097709 RGD:1308948 605224 HGNC:10450 "ENST00000317735.7|NM_006583.5" +HGNC:10451 RRM1 ribonucleotide reductase catalytic subunit M1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 ribonucleotide reductase M1 polypeptide 1986-01-01 2016-01-14 2021-04-13 6240 ENSG00000167325 OTTHUMG00000133361 uc001lyw.5 X59543 NM_001033 "CCDS7750|CCDS81547" P23921 7557993 MGI:98180 RGD:1592569 LRG_324|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_324.xml 180410 objectId:2630 1.17.14.1 HGNC:10451 "ENST00000300738.10|NM_001033.5" +HGNC:40512 RRM1-AS1 RRM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 RRM1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 106478966 ENSG00000255276 OTTHUMG00000165304 uc057yfu.1 RRM1-AS1 +HGNC:10452 RRM2 ribonucleotide reductase regulatory subunit M2 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 FLJ25102 C2orf48 "ribonucleotide reductase M2 polypeptide|chromosome 2 open reading frame 48" 2001-06-22 2016-01-14 2019-09-12 6241 ENSG00000171848 OTTHUMG00000090449 uc061gpx.1 NM_001034 "CCDS54334|CCDS1669" P31350 MGI:98181 RGD:1598310 180390 objectId:2631 1.17.4.1 HGNC:10452 "ENST00000304567.10|NM_001034.4" +HGNC:17296 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B protein-coding gene gene with protein product Approved 8q22.3 08q22.3 p53R2 ribonucleotide reductase M2 B (TP53 inducible) 2002-01-14 2016-01-14 2021-04-13 50484 ENSG00000048392 OTTHUMG00000164776 uc003ykn.4 AB036532 NM_001172477 "CCDS55267|CCDS34932" Q7LG56 "10716435|10980602|17486094" MGI:2155865 RGD:1306045 LRG_788|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_788.xml 604712 168101 objectId:2754 HGNC:17296 "ENST00000251810.8|NM_015713.5" HGNC:17296 +HGNC:10454 RRM2P2 ribonucleotide reductase M2 polypeptide pseudogene 2 pseudogene pseudogene Approved 1q23.3 01q23.3 2001-06-22 2014-11-18 6244 ENSG00000236484 OTTHUMG00000034464 NG_012978 PGOHUM00000244310 HGNC:10454 +HGNC:10455 RRM2P3 ribonucleotide reductase M2 polypeptide pseudogene 3 pseudogene pseudogene Approved Xp11.3 Xp11.3 2001-06-22 2020-04-20 100420159 ENSG00000214018 OTTHUMG00000021394 NG_000870 3311968 PGOHUM00000241254 HGNC:10455 +HGNC:10456 RRM2P4 ribonucleotide reductase M2 polypeptide pseudogene 4 pseudogene pseudogene Approved Xq27.3 Xq27.3 1986-01-01 2016-10-05 6246 ENSG00000235598 OTTHUMG00000022588 NG_000871 3311968 PGOHUM00000241587 HGNC:10456 +HGNC:30346 RRN3 RRN3 homolog, RNA polymerase I transcription factor protein-coding gene gene with protein product Approved 16p13.11 16p13.11 "DKFZp566E104|TIF-IA" transcription initiation factor IA "RRN3 RNA polymerase I transcription factor homolog (yeast)|RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)" Armadillo like helical domain containing 1492 2004-08-19 2015-07-22 2015-07-22 54700 ENSG00000085721 OTTHUMG00000129847 uc002dde.4 AF227156 NM_018427 "CCDS10559|CCDS73833" Q9NYV6 "10758157|11250903" MGI:1925255 RGD:1305001 605121 HGNC:30346 "ENST00000198767.11|NM_018427.5" +HGNC:30548 RRN3P1 RRN3 pseudogene 1 pseudogene pseudogene Approved 16p12.2 16p12.2 "RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1|RRN3 homolog, RNA polymerase I transcription factor pseudogene 1" 2009-11-11 2019-10-11 2019-10-11 730092 ENSG00000248124 OTTHUMG00000170417 NR_003370 Q2M238 12477932 PGOHUM00000261200 HGNC:30548 +HGNC:37619 RRN3P2 RRN3 pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 "RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2|RRN3 homolog, RNA polymerase I transcription factor pseudogene 2" 2009-11-11 2019-10-11 2021-08-17 653390 ENSG00000103472 NR_003369 A6NIE6 MGI:1925255 HGNC:37619 +HGNC:37620 RRN3P3 RRN3 pseudogene 3 pseudogene pseudogene Approved 16p12.2 16p12.2 "RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3|RRN3 homolog, RNA polymerase I transcription factor pseudogene 3" 2009-11-11 2019-10-11 2019-10-11 100131998 ENSG00000257122 OTTHUMG00000170419 NR_027460 HGNC:37620 +HGNC:54536 RRN3P4 RRN3 pseudogene 4 pseudogene pseudogene Approved 2q22.2 02q22.2 2019-10-11 2019-10-11 100129955 ENSG00000229781 NG_028783 HGNC:54536 +HGNC:18785 RRP1 ribosomal RNA processing 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "NNP-1|Nop52|NOP52|RRP1A|D21S2056E" "DNA segment on chromosome 21 (unique) 2056 expressed sequence|Nnp1 homolog, nucleolar protein (Drosophila)" ribosomal RNA processing 1 homolog (S. cerevisiae) Ribosomal biogenesis factors 1729 2007-03-26 2013-07-02 2014-11-19 8568 ENSG00000160214 OTTHUMG00000086884 uc002zds.3 U79775 NM_003683 CCDS42951 P56182 "10830953|10341208" MGI:1203500 RGD:1307286 610653 HGNC:18785 "ENST00000497547.2|NM_003683.6" +HGNC:23818 RRP1B ribosomal RNA processing 1B protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "Nnp1|RRP1|PPP1R136" protein phosphatase 1, regulatory subunit 136 KIAA0179 "KIAA0179|ribosomal RNA processing 1 homolog B (S. cerevisiae)" "Protein phosphatase 1 regulatory subunits|Ribosomal biogenesis factors" "694|1729" 2003-12-15 2007-03-26 2013-07-02 2014-11-19 23076 ENSG00000160208 OTTHUMG00000086872 uc002zdk.4 AK124620 NM_015056 CCDS33577 Q14684 MGI:1919712 RGD:1305633 610654 HGNC:23818 "ENST00000340648.6|NM_015056.3" +HGNC:24286 RRP7A ribosomal RNA processing 7 homolog A protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "CGI-96|Rrp7" ribosomal RNA processing 7 homolog A (S. cerevisiae) "UTPc subcomplex|Ribosomal biogenesis factors" "1490|1729" 2008-07-25 2015-07-22 2020-05-15 27341 ENSG00000189306 OTTHUMG00000150891 uc003bcq.4 BC035992 NM_015703 CCDS14036 Q9Y3A4 "10810093|12087473" MGI:1922028 RGD:1311547 619449 HGNC:24286 "ENST00000323013.7|NM_015703.5" +HGNC:30454 RRP7BP ribosomal RNA processing 7 homolog B, pseudogene pseudogene pseudogene Approved 22q13.2 22q13.2 dJ222E13.2 RRP7B "ribosomal RNA processing 7 homolog B (S. cerevisiae)|ribosomal RNA processing 7 homolog B (S. cerevisiae), pseudogene" 2008-07-25 2015-02-27 2015-07-22 2015-07-22 91695 ENSG00000182841 OTTHUMG00000150889 NR_002184 Q9NSQ0 PGOHUM00000297549 HGNC:30454 +HGNC:29030 RRP8 ribosomal RNA processing 8 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 NML "RRP8 methyltransferase homolog (S. cerevisiae)|nucleomethylin" KIAA0409 "KIAA0409|ribosomal RNA processing 8, methyltransferase, homolog (yeast)" "eNoSC complex|Ribosomal biogenesis factors|7BS DNA/RNA methyltransferases" "1477|1729|2059" 2005-10-27 2009-02-23 2017-05-25 2020-11-17 23378 ENSG00000132275 OTTHUMG00000165503 uc001med.4 AB007869 NM_015324 CCDS31411 O43159 "9455477|27149924" MGI:1914251 RGD:1308302 615818 HGNC:29030 "ENST00000254605.11|NM_015324.4" +HGNC:16829 RRP9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein protein-coding gene gene with protein product Approved 3p21.2 03p21.2 U3-55K RNU3IP2 "RNA, U3 small nucleolar interacting protein 2|ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)" "WD repeat domain containing|U3 small nucleolar ribonucleoprotein|Ribosomal biogenesis factors" "362|1485|1729" 2003-04-14 2006-10-24 2017-05-24 2017-05-24 9136 ENSG00000114767 OTTHUMG00000156930 uc003dbw.3 AJ001340 NM_004704 CCDS2837 O43818 "9418896|12032086" MGI:2384313 RGD:1307881 HGNC:16829 "ENST00000232888.7|NM_004704.5" +HGNC:29100 RRP12 ribosomal RNA processing 12 homolog protein-coding gene gene with protein product Approved 10q24.1 10q24.1 KIAA0690 "KIAA0690|ribosomal RNA processing 12 homolog (S. cerevisiae)" "Armadillo like helical domain containing|Ribosomal biogenesis factors" "1492|1729" 2004-01-22 2006-11-06 2015-07-22 2019-01-21 23223 ENSG00000052749 OTTHUMG00000018855 uc057vea.1 NM_015179 "CCDS60605|CCDS44467|CCDS7457" Q5JTH9 "9734811|29875412" MGI:2147437 RGD:1591867 617723 HGNC:29100 "ENST00000370992.9|NM_015179.4" +HGNC:24255 RRP15 ribosomal RNA processing 15 homolog protein-coding gene gene with protein product Approved 1q41 01q41 CGI-115 KIAA0507 "KIAA0507|ribosomal RNA processing 15 homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2007-01-24 2015-07-22 2019-03-15 51018 ENSG00000067533 OTTHUMG00000039494 uc001hlj.3 NM_016052 CCDS1520 Q9Y3B9 "15769876|28099941" MGI:1914473 RGD:1306106 611193 HGNC:24255 "ENST00000366932.4|NM_016052.4" +HGNC:21374 RRP36 ribosomal RNA processing 36 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 dJ20C7.4 C6orf153 "chromosome 6 open reading frame 153|ribosomal RNA processing 36 homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2003-06-11 2010-07-06 2015-07-22 2015-09-09 88745 ENSG00000124541 OTTHUMG00000014715 uc003otp.2 BC011933 NM_033112 CCDS34453 Q96EU6 20038530 MGI:2385053 RGD:2321693 613475 HGNC:21374 "ENST00000244496.6|NM_033112.4" +HGNC:17083 RRS1 ribosome biogenesis regulator 1 homolog protein-coding gene gene with protein product Approved 8q13.1 08q13.1 KIAA0112 "RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)|ribosome biogenesis regulator homolog" Ribosomal biogenesis factors 1729 2003-03-06 2019-02-28 2019-02-28 23212 ENSG00000179041 OTTHUMG00000164765 uc003xwa.3 BC001811 NM_015169 CCDS6189 Q15050 "10688653|19465021" MGI:1929721 RGD:1311403 618311 HGNC:17083 "ENST00000320270.4|NM_015169.4" +HGNC:50465 RRS1-DT RRS1 divergent transcript non-coding RNA RNA, long non-coding Approved 8q13.1 08q13.1 RRS1-AS1 RRS1 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-04-30 2021-05-05 2021-05-05 2021-05-05 100505676 ENSG00000246145 OTTHUMG00000164956 NR_040434 RRS1-AS1 HGNC:50465 +HGNC:10457 RS1 retinoschisin 1 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 XLRS1 RS retinoschisis (X-linked, juvenile) 1 2001-06-22 2008-07-29 2021-04-13 6247 ENSG00000102104 OTTHUMG00000021216 uc004cyo.4 AF014459 NM_000330 CCDS14187 O15537 "9326935|17804407" MGI:1336189 RGD:1642515 "X-Linked Juvenile Retinoschisis|http://www.LOVD.nl/RS1|Mutations of the X-linked Retinoschisis Gene|http://www.retina-international.org/files/sci-news/xlrsmut.htm|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RS1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RS1|LRG_702|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_702.xml" 300839 118411 HGNC:10457 "ENST00000379984.4|NM_000330.4" HGNC:10457 +HGNC:25634 RSAD1 radical S-adenosyl methionine domain containing 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ11164|HemW" Radical S-adenosylmethionine domain containing 2036 2004-11-08 2019-03-19 55316 ENSG00000136444 OTTHUMG00000162126 uc002iqw.2 AK002026 NM_018346 CCDS11569 Q9HA92 29282292 MGI:3039628 RGD:1592414 HGNC:25634 "ENST00000258955.7|NM_018346.3" +HGNC:30908 RSAD2 radical S-adenosyl methionine domain containing 2 protein-coding gene gene with protein product Approved 2p25.2 02p25.2 "cig5|vig1|Viperin" virus-inhibitory protein, endoplasmic reticulum–associated, interferon-inducible Radical S-adenosylmethionine domain containing 2036 2004-11-08 2020-08-14 91543 ENSG00000134321 OTTHUMG00000090352 uc002qyp.2 AF442151 NM_080657 CCDS1656 Q8WXG1 11752458 MGI:1929628 RGD:620495 607810 HGNC:30908 "ENST00000382040.4|NM_080657.5" +HGNC:25642 RSBN1 round spermatid basic protein 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ11220|ROSBIN" 2004-08-11 2019-02-20 54665 ENSG00000081019 OTTHUMG00000011938 uc001edq.4 AK002082 NM_018364 CCDS862 Q5VWQ0 "14724137|28867287" MGI:2444993 RGD:1307231 615858 HGNC:25642 "ENST00000261441.9|NM_018364.5" +HGNC:24765 RSBN1L round spermatid basic protein 1 like protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "FLJ42526|FLJ45813|MGC71764" round spermatid basic protein 1-like 2004-08-11 2016-03-15 2016-10-05 222194 ENSG00000187257 OTTHUMG00000155517 uc010ldt.2 AK124517 NM_198467 CCDS43607 Q6PCB5 12477932 MGI:3036237 RGD:1308748 HGNC:24765 "ENST00000334955.13|NM_198467.3" +HGNC:10458 RSC1A1 regulator of solute carriers 1 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 RS1 regulatory solute carrier protein, family 1, member 1 1996-04-24 2016-09-29 2016-10-05 6248 ENSG00000215695 OTTHUMG00000067830 uc010obn.2 "BN000122|X82877" NM_006511 CCDS161 Q92681 MGI:3526447 601966 HGNC:10458 "ENST00000345034.2|NM_006511.3" +HGNC:18118 RSF1 remodeling and spacing factor 1 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "XAP8|RSF-1|p325" HBXAP hepatitis B virus x associated protein PHD finger proteins 88 2002-02-12 2006-05-25 2006-05-25 2014-11-19 51773 ENSG00000048649 OTTHUMG00000150433 uc001oyn.4 "AF380176|AF227948" NM_016578 CCDS8253 Q96T23 "11788598|12972596" MGI:2682305 RGD:1311245 608522 HGNC:18118 "ENST00000308488.11|NM_016578.4" +HGNC:41439 RSF1-IT1 RSF1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 RSF1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874308 ENSG00000255409 OTTHUMG00000166670 uc058fun.1 NR_046822 RSF1-IT1 +HGNC:41438 RSF1-IT2 RSF1 intronic transcript 2 non-coding RNA RNA, long non-coding Approved 11q14.1 11q14.1 RSF1 intronic transcript 2 (non-protein coding) Intronic transcripts 1989 2011-05-24 2015-02-25 2015-02-25 100874307 ENSG00000254985 OTTHUMG00000166669 uc058ful.1 RSF1-IT2 +HGNC:26314 RSKR ribosomal protein S6 kinase related protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "FLJ25006|SgK494" 2018-10-11 2018-10-11 124923 ENSG00000167524 OTTHUMG00000179342 NM_144610 Q96LW2 23524293 MGI:2652869 RGD:1596488 objectId:1531 HGNC:26314 "ENST00000301037.11|NM_001174103.2" +HGNC:24534 RSL1D1 ribosomal L1 domain containing 1 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "PBK1|L12|DKFZP564M182|CSIG|UTP30" SSU processome 1484 2005-02-09 2015-08-25 26156 ENSG00000171490 OTTHUMG00000129824 uc002dbp.3 AY154473 NM_015659 CCDS10551 O76021 "15334068|9859858" MGI:1913659 RGD:1359295 615874 HGNC:24534 "ENST00000571133.6|NM_015659.3" +HGNC:55337 RSL1D1-DT RSL1D1 divergent transcript non-coding RNA RNA, long non-coding Approved 16p13.13 16p13.13 Divergent transcripts 1990 2020-10-21 2020-10-21 105371084 ENSG00000263307 +HGNC:18479 RSL24D1 ribosomal L24 domain containing 1 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "HRP-L30-iso|L30|RPL24L|RPL24" C15orf15 chromosome 15 open reading frame 15 2002-05-23 2009-02-27 2009-02-27 2020-11-17 51187 ENSG00000137876 OTTHUMG00000131957 uc002acn.4 AF201949 NM_016304 CCDS10152 Q9UHA3 "12808088|11707418" MGI:2681840 RGD:1309784 613262 HGNC:18479 "ENST00000260443.9|NM_016304.3" +HGNC:13979 RSL24D1P1 ribosomal L24 domain containing 1 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "RPL24p|dJ97D16.2" "RPL30BP|RSL24D1P" "ribosomal protein L30B pseudogene|ribosomal L24 domain containing 1 pseudogene" 2003-11-27 2010-03-05 2010-03-05 2016-10-05 100129755 ENSG00000218069 OTTHUMG00000014482 NG_009885 PGOHUM00000243097 HGNC:13979 +HGNC:37867 RSL24D1P2 ribosomal L24 domain containing 1 pseudogene 2 pseudogene pseudogene Approved 2p15 02p15 2010-03-05 2014-11-19 100129162 ENSG00000230595 OTTHUMG00000152521 NG_023155 PGOHUM00000240064 HGNC:37867 +HGNC:37883 RSL24D1P3 ribosomal L24 domain containing 1 pseudogene 3 pseudogene pseudogene Approved 7q11.21 07q11.21 2010-03-05 2010-03-05 2014-11-19 100130721 ENSG00000231556 OTTHUMG00000156562 NG_023002 PGOHUM00000232836 HGNC:37883 +HGNC:37884 RSL24D1P4 ribosomal L24 domain containing 1 pseudogene 4 pseudogene pseudogene Approved 1q43 01q43 RSL24D1P19 ribosomal L24 domain containing 1 pseudogene 19 2010-03-05 2010-03-05 2017-03-10 391183 ENSG00000215800 OTTHUMG00000039856 NG_028107 PGOHUM00000245283 HGNC:37884 +HGNC:37870 RSL24D1P5 ribosomal L24 domain containing 1 pseudogene 5 pseudogene pseudogene Approved 12q14.2 12q14.2 2010-03-05 2017-10-26 100129941 ENSG00000257664 OTTHUMG00000169979 NG_022995 PGOHUM00000291376 HGNC:37870 +HGNC:37876 RSL24D1P6 ribosomal L24 domain containing 1 pseudogene 6 pseudogene pseudogene Approved 20q11.21 20q11.21 dJ836N17.3 RPL24P1 ribosomal protein L24 pseudogene 1 2010-03-05 2010-03-05 2017-03-10 140757 ENSG00000224452 OTTHUMG00000032207 NG_001000 PGOHUM00000247510 HGNC:37876 +HGNC:37877 RSL24D1P7 ribosomal L24 domain containing 1 pseudogene 7 pseudogene pseudogene Approved 8p23.2 08p23.2 2010-03-05 2010-03-05 2014-11-19 100129861 NG_028195 PGOHUM00000249201 HGNC:37877 +HGNC:37873 RSL24D1P8 ribosomal L24 domain containing 1 pseudogene 8 pseudogene pseudogene Approved 19p13.2 19p13.2 2010-03-05 2014-11-19 100462809 ENSG00000237273 OTTHUMG00000156414 NG_021758 PGOHUM00000234508 HGNC:37873 +HGNC:37880 RSL24D1P9 ribosomal L24 domain containing 1 pseudogene 9 pseudogene pseudogene Approved 18q21.2 18q21.2 2010-03-05 2010-03-05 2017-10-26 100128991 ENSG00000265402 OTTHUMG00000179695 NG_023017 PGOHUM00000294663 HGNC:37880 +HGNC:37875 RSL24D1P10 ribosomal L24 domain containing 1 pseudogene 10 pseudogene pseudogene Approved 5q23.1 05q23.1 2010-03-05 2014-11-19 100130699 NG_022991 PGOHUM00000235376 HGNC:37875 +HGNC:37881 RSL24D1P11 ribosomal L24 domain containing 1 pseudogene 11 pseudogene pseudogene Approved 18q21.31 18q21.31 2010-03-05 2010-03-05 2014-11-19 284288 ENSG00000231544 OTTHUMG00000180257 NG_028175 PGOHUM00000235071 HGNC:37881 +HGNC:12371 RSPH1 radial spoke head component 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "FLJ32753|RSP44|RSPH10A|CILD24" meichroacidin TSGA2 "testis specific A2 homolog (mouse)|radial spoke head 1 homolog (Chlamydomonas)" Axonemal radial spoke subunits 2046 2000-05-17 2007-06-25 2018-06-22 2021-05-26 89765 ENSG00000160188 OTTHUMG00000086804 uc002zbg.4 AB006536 NM_001286506 "CCDS13688|CCDS68210" Q8WYR4 "9578619|17451891|25473808" MGI:1194909 RGD:1307712 609314 360491 HGNC:12371 "ENST00000291536.8|NM_080860.4" HGNC:12371 +HGNC:55644 RSPH1-DT RSPH1 divergent transcript non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 Divergent transcripts 1990 2021-06-25 2021-06-25 101930094 ENSG00000239930 NR_135518 +HGNC:21054 RSPH3 radial spoke head 3 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "dJ111C20.1|RSP3" RSHL2 "radial spokehead-like 2|radial spoke head 3 homolog (Chlamydomonas)" Axonemal radial spoke subunits 2046 2003-05-12 2007-06-26 2019-02-18 2021-05-26 83861 ENSG00000130363 OTTHUMG00000015924 uc063soj.1 AF353618 NM_031924 CCDS5260 Q86UC2 26073779 MGI:1914082 RGD:1311306 615876 435581 HGNC:21054 "ENST00000367069.7|NM_031924.8" HGNC:21054 +HGNC:21558 RSPH4A radial spoke head component 4A protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "dJ412I7.1|FLJ37974|RSPH6B|CILD11" RSHL3 "radial spokehead-like 3|radial spoke head 4 homolog A (Chlamydomonas)" Axonemal radial spoke subunits 2046 2003-06-24 2009-02-17 2018-06-22 2021-05-26 345895 ENSG00000111834 OTTHUMG00000015444 uc003pxe.3 NM_001010892 "CCDS55051|CCDS34521" Q5TD94 19200523 MGI:3027894 RGD:1307229 612647 178082 HGNC:21558 "ENST00000229554.10|NM_001010892.3" HGNC:21558 +HGNC:14241 RSPH6A radial spoke head 6 homolog A protein-coding gene gene with protein product Approved 19q13.3 19q13.3 "RSP4|RSP6|RSPH4B" RSHL1 "radial spokehead-like 1|radial spoke head 6 homolog A (Chlamydomonas)" Axonemal radial spoke subunits 2046 2001-04-05 2009-11-18 2016-04-04 2016-04-04 81492 ENSG00000104941 OTTHUMG00000182482 uc002pdm.4 AL136761 NM_030785 CCDS12675 Q9H0K4 11237735 MGI:1927643 RGD:1306786 607548 HGNC:14241 "ENST00000221538.8|NM_030785.4" +HGNC:21057 RSPH9 radial spoke head component 9 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "FLJ30845|CILD12" "MRPS18AL1|C6orf206" "mitochondrial ribosomal protein S18A-like 1|chromosome 6 open reading frame 206|radial spoke head 9 homolog (Chlamydomonas)" Axonemal radial spoke subunits 2046 2003-05-12 2009-02-17 2019-08-29 2021-05-26 221421 ENSG00000172426 OTTHUMG00000014746 uc003ovw.3 AK055407 NM_152732 "CCDS4905|CCDS55005" Q9H1X1 "19200523|30383886" MGI:1922814 RGD:1310693 612648 178077 HGNC:21057 "ENST00000372163.5|NM_152732.5" HGNC:21057 +HGNC:27362 RSPH10B radial spoke head 10 homolog B protein-coding gene gene with protein product Approved 7p22.1 07p22.1 radial spoke head 10 homolog B (Chlamydomonas) Axonemal radial spoke subunits 2046 2007-06-26 2016-04-04 2016-10-05 222967 ENSG00000155026 OTTHUMG00000152378 uc010ktd.1 NM_173565 CCDS34598 P0C881 16507594 MGI:1922386 RGD:1311893 HGNC:27362 +HGNC:34385 RSPH10B2 radial spoke head 10 homolog B2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 radial spoke head 10 homolog B2 (Chlamydomonas) Axonemal radial spoke subunits 2046 2008-07-04 2016-04-04 2016-04-04 728194 ENSG00000169402 OTTHUMG00000151856 uc003sqw.1 NM_001099697 CCDS43552 B2RC85 HGNC:34385 +HGNC:13437 RSPH14 radial spoke head 14 homolog protein-coding gene gene with protein product Approved 22q11.22-q11.23 22q11.22-q11.23 RTDR1 "rhabdoid tumor deletion region gene 1|radial spoke head 14 homolog (Chlamydomonas)" "Armadillo like helical domain containing|Axonemal radial spoke subunits " "1492|2046" 2001-09-27 2014-09-05 2016-01-18 2022-01-11 27156 ENSG00000100218 OTTHUMG00000150602 AF133587 NM_014433 CCDS13803 Q9UHP6 34351079 MGI:1918486 RGD:1305601 605663 HGNC:13437 "ENST00000216036.9|NM_014433.3" +HGNC:21679 RSPO1 R-spondin 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ40906|RSPONDIN" R-spondin homolog (Xenopus laevis) R-spondin family 1898 2005-08-08 2011-06-29 2021-05-26 284654 ENSG00000169218 OTTHUMG00000004321 uc031txn.2 AK098225 NM_173640 "CCDS55591|CCDS55590|CCDS41304" Q2MKA7 17041600 MGI:2183426 RGD:1565558 609595 118415 ligandId:3697 HGNC:21679 "ENST00000356545.7|NM_001242908.2" HGNC:21679 +HGNC:28583 RSPO2 R-spondin 2 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 MGC35555 R-spondin 2 homolog (Xenopus laevis) R-spondin family 1898 2005-08-08 2011-06-29 2021-05-26 340419 ENSG00000147655 OTTHUMG00000164893 uc003yms.4 AK123023 NM_178565 "CCDS6307|CCDS64953|CCDS83314" Q6UXX9 15469841 MGI:1922667 RGD:1562331 LRG_1405|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1405.xml RSPO2 610575 ligandId:3698 HGNC:28583 "ENST00000276659.10|NM_178565.5" HGNC:28583 +HGNC:20866 RSPO3 R-spondin 3 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 FLJ14440 THSD2 "thrombospondin, type I, domain containing 2|R-spondin 3 homolog (Xenopus laevis)" R-spondin family 1898 2003-04-29 2005-08-08 2011-06-29 2015-08-25 84870 ENSG00000146374 OTTHUMG00000015521 uc003qar.5 BC022367 NM_032784 CCDS5135 Q9BXY4 "10842357|15469841" MGI:1920030 RGD:1563246 RSPO3 610574 ligandId:3699 HGNC:20866 "ENST00000356698.9|NM_032784.5" +HGNC:16175 RSPO4 R-spondin 4 protein-coding gene gene with protein product Approved 20p13 20p13 dJ824F16.3 C20orf182 "chromosome 20 open reading frame 182|R-spondin family, member 4" R-spondin family 1898 2001-07-17 2005-08-08 2011-06-29 2021-05-26 343637 ENSG00000101282 OTTHUMG00000031651 uc002wej.4 AK122609 NM_001029871 "CCDS42845|CCDS42846" Q2I0M5 15469841 MGI:1924467 RGD:1563415 610573 118419 ligandId:3700 HGNC:16175 "ENST00000217260.9|NM_001029871.4" HGNC:16175 +HGNC:29420 RSPRY1 ring finger and SPRY domain containing 1 protein-coding gene gene with protein product Approved 16q13 16q13 KIAA1972 Ring finger proteins 58 2006-02-17 2014-11-19 89970 ENSG00000159579 OTTHUMG00000133462 uc002elb.4 AB075852 NM_133368 CCDS10775 Q96DX4 11853319 MGI:1914860 RGD:1308847 616585 460740 HGNC:29420 "ENST00000394420.9|NM_133368.3" HGNC:29420 +HGNC:24152 RSRC1 arginine and serine rich coiled-coil 1 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "MGC12197|BM-011|SRrp53|SFRS21" splicing factor, arginine/serine-rich 21 arginine/serine-rich coiled-coil 1 2005-02-25 2016-06-06 2016-06-06 51319 ENSG00000174891 OTTHUMG00000158758 uc062pjk.1 AF208853 NM_016625 "CCDS63822|CCDS3181" Q96IZ7 "15798186|19065146" MGI:1914130 RGD:1304968 613352 HGNC:24152 "ENST00000611884.5|NM_001271838.2" HGNC:24152 +HGNC:30559 RSRC2 arginine and serine rich coiled-coil 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ11021 arginine/serine-rich coiled-coil 2 2007-02-13 2016-06-06 2016-06-06 65117 ENSG00000111011 OTTHUMG00000167572 uc001ucr.4 AF161432 NM_023012 CCDS31920 Q7L4I2 17203224 MGI:1913489 RGD:1564882 HGNC:30559 "ENST00000331738.12|NM_023012.6" HGNC:30559 +HGNC:25234 RSRP1 arginine and serine rich protein 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DJ465N24.2.1 C1orf63 "chromosome 1 open reading frame 63|arginine/serine-rich protein 1" 2005-05-16 2014-02-19 2016-06-06 2022-01-11 57035 ENSG00000117616 OTTHUMG00000043611 NM_020317 CCDS260 Q9BUV0 34042961 MGI:106498 RGD:1359529 HGNC:25234 "ENST00000243189.12|NM_020317.5" +HGNC:10464 RSU1 Ras suppressor protein 1 protein-coding gene gene with protein product Approved 10p13 10p13 "RSP-1|FLJ31034" 1993-07-27 2014-11-19 6251 ENSG00000148484 OTTHUMG00000017740 uc001iol.4 AK055596 "NM_012425|NM_152724" "CCDS7112|CCDS31157" Q15404 8288261 MGI:103040 RGD:1591781 179555 HGNC:10464 "ENST00000345264.10|NM_012425.4" +HGNC:31114 RSU1P1 Ras suppressor protein 1 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 Y214H10.6 2004-05-27 2020-04-20 100129622 ENSG00000230425 OTTHUMG00000018019 NG_008398 PGOHUM00000261964 HGNC:31114 +HGNC:44391 RSU1P2 Ras suppressor protein 1 pseudogene 2 pseudogene pseudogene Approved 10q11.21 10q11.21 2012-09-20 2015-01-30 100133308 ENSG00000232554 OTTHUMG00000185442 NR_024472 PGOHUM00000238444 HGNC:44391 +HGNC:44392 RSU1P3 Ras suppressor protein 1 pseudogene 3 pseudogene pseudogene Approved 10q21.1 10q21.1 2012-09-20 2012-09-20 100419964 ENSG00000213659 OTTHUMG00000018244 NG_029982 PGOHUM00000238799 HGNC:44392 +HGNC:30310 RTBDN retbindin protein-coding gene gene with protein product Approved 19p13.13 19p13.13 FLJ36353 2006-03-22 2019-08-20 83546 ENSG00000132026 OTTHUMG00000180482 uc002mvj.5 AY028917 NM_031429 "CCDS12283|CCDS59356|CCDS45994" Q9BSG5 12107411 MGI:2443686 RGD:1308534 609553 HGNC:30310 "ENST00000674343.2|NM_001270441.2" +HGNC:17981 RTCA RNA 3'-terminal phosphate cyclase protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "RPC|RTC1" RTCD1 "RTC domain containing 1|RNA terminal phosphate cyclase domain 1" MicroRNA protein coding host genes 1691 2002-01-10 2012-03-30 2012-03-30 2016-10-05 8634 ENSG00000137996 OTTHUMG00000010920 uc001dtc.4 Y11651 NM_001130841 "CCDS44178|CCDS768" O00442 9184239 MGI:1913618 RGD:1303111 611286 6.5.1.4 HGNC:17981 "ENST00000370128.9|NM_003729.4" +HGNC:50573 RTCA-AS1 RTCA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p21.2 01p21.2 Antisense RNAs 1987 2014-05-21 2014-05-21 100506007 ENSG00000224616 OTTHUMG00000040490 NR_110434 RTCA-AS1 HGNC:50573 +HGNC:26935 RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "HSPC117|FAAP" "focal adhesion-associated protein|tRNA-splicing ligase RtcB homolog" C22orf28 chromosome 22 open reading frame 28 tRNA splicing ligase complex 1345 2006-07-04 2013-05-22 2013-05-22 2020-11-17 51493 ENSG00000100220 OTTHUMG00000030300 BC016707 NM_014306 CCDS13905 Q9Y3I0 "11042152|21209330|21311021" MGI:106379 RGD:1303261 613901 6.5.1.3 HGNC:26935 "ENST00000216038.6|NM_014306.5" +HGNC:15888 RTEL1 regulator of telomere elongation helicase 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "bK3184A7.3|NHL|DKFZP434C013|KIAA1088|RTEL" C20orf41 chromosome 20 open reading frame 41 DNA helicases 1167 2001-06-21 2004-10-29 2004-10-29 2021-05-26 51750 ENSG00000258366 OTTHUMG00000032992 uc002yfu.3 AB029011 NM_032957 "CCDS13531|CCDS63331|CCDS13530|CCDS74751" Q9NZ71 "10655513|15210109" MGI:2139369 RGD:1306721 LRG_1149|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1149.xml 608833 330673 HGNC:15888 "ENST00000360203.11|NM_001283009.2" HGNC:15888 +HGNC:44095 RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) other readthrough Approved 20q13.33 20q13.33 2012-06-27 2013-05-09 2013-05-09 100533107 ENSG00000026036 OTTHUMG00000170363 uc061ynz.1 NR_037882 HGNC:44095 +HGNC:44213 RTEL1P1 regulator of telomere elongation helicase 1 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 2012-07-09 2012-07-09 100421429 ENSG00000251441 OTTHUMG00000161065 NG_025241 PGOHUM00000246032 HGNC:44213 +HGNC:28996 RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component protein-coding gene gene with protein product Approved 15q15.1 15q15.1 KIAA0252 "KIAA0252|Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)" Paf1/RNA polymerase II complex 1029 2004-03-03 2005-07-20 2015-07-08 2016-10-05 23168 ENSG00000137815 OTTHUMG00000133744 uc001zny.3 D87440 NM_015138 CCDS32200 Q92541 "15632063|17576814" MGI:1309480 RGD:1310654 611633 HGNC:28996 "ENST00000389629.9|NM_015138.5" +HGNC:15890 RTF2 replication termination factor 2 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "HSPC164|CDAO5" "C20orf43|RTFDC1" "chromosome 20 open reading frame 43|replication termination factor 2 domain containing 1" 2001-06-21 2018-01-02 2018-01-02 2018-01-04 51507 ENSG00000022277 OTTHUMG00000032801 uc002xxt.4 AF161513 NM_016407 "CCDS63317|CCDS13453|CCDS63316" Q9BY42 29290612 MGI:1913654 RGD:1311072 HGNC:15890 "ENST00000357348.10|NM_016407.5" +HGNC:10466 RTKN rhotekin protein-coding gene gene with protein product Approved 2p13.1 02p13.1 B5 Pleckstrin homology domain containing 682 1996-11-15 2014-11-19 6242 ENSG00000114993 OTTHUMG00000129955 uc002slc.4 AF049227 NM_001015055 "CCDS1941|CCDS33226|CCDS42699" Q9BST9 "9073523|10940294" MGI:107371 RGD:727874 602288 HGNC:10466 "ENST00000272430.10|NM_001015055.2" +HGNC:19364 RTKN2 rhotekin 2 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "Em:AC024597.2|bA531F24.1|FLJ39352" PLEKHK1 pleckstrin homology domain containing, family K member 1 Pleckstrin homology domain containing 682 2004-02-05 2007-12-14 2007-12-14 2016-10-05 219790 ENSG00000182010 OTTHUMG00000018299 uc001jlw.5 BC025765 NM_145307 "CCDS73140|CCDS7263" Q8IZC4 15504364 MGI:2158417 RGD:1304834 618450 HGNC:19364 "ENST00000373789.8|NM_145307.4" +HGNC:14665 RTL1 retrotransposon Gag like 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "PEG11|MART1|Mar1|SIRH2|HUR1" "Sushi-Ichi retrotransposon homolog 2|mammalian retrotransposon-derived 1|paternally expressed 11" retrotransposon-like 1 Retrotransposon Gag like 1409 2006-02-27 2017-04-11 2021-04-13 388015 ENSG00000254656 OTTHUMG00000167573 uc010txj.1 NM_001134888 CCDS53910 A6NKG5 "16155747|15854907|12796779" MGI:2656842 RGD:11378340 LRG_1059|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1059.xml 611896 159161 HGNC:14665 "ENST00000649591.1|NM_001134888.3" +HGNC:22997 RTL3 retrotransposon Gag like 3 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "FLJ38865|Mar3|Mart3|ZHC5|SIRH9" "Sushi-Ichi retrotransposon homolog 9|mammalian retrotransposon-derived 3" ZCCHC5 zinc finger CCHC-type containing 5 "Zinc fingers CCHC-type|Retrotransposon Gag like" "74|1409" 2003-08-14 2017-03-23 2017-03-23 2020-04-02 203430 ENSG00000179300 OTTHUMG00000021892 uc004edc.1 AK096184 NM_152694 CCDS14440 Q8N8U3 "15716091|16093683" MGI:2685221 RGD:1564805 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZCCHC5 HGNC:22997 "ENST00000321110.2|NM_152694.3" +HGNC:25214 RTL4 retrotransposon Gag like 4 protein-coding gene gene with protein product Approved Xq23 Xq23 "Mart4|Mar4|FLJ46608|SIRH11" "Sushi-Ichi retrotransposon homolog 11|mammalian retrotransposon-derived 4" ZCCHC16 zinc finger CCHC-type containing 16 "Zinc fingers CCHC-type|Retrotransposon Gag like" "74|1409" 2005-05-31 2017-03-23 2017-03-23 2017-03-23 340595 ENSG00000187823 OTTHUMG00000159706 uc065atq.1 AK128465 NM_001004308 CCDS35369 Q6ZR62 "15716091|16093683" MGI:3588192 RGD:1588188 HGNC:25214 +HGNC:29430 RTL5 retrotransposon Gag like 5 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "KIAA2001|Mar5|Mart5|SIRH8" "Sushi-Ichi retrotransposon homolog 8|mammalian retrotransposon-derived 5" RGAG4 retrotransposon gag domain containing 4 Retrotransposon Gag like 1409 2004-08-27 2017-03-23 2017-03-23 2020-04-02 340526 ENSG00000242732 OTTHUMG00000021808 uc064zwl.1 AB082532 NM_001024455 CCDS55446 Q5HYW3 "12056414|15716091|16093683" MGI:3045324 RGD:6490575 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RGAG4 HGNC:29430 +HGNC:13343 RTL6 retrotransposon Gag like 6 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "dJ1033E15.2|DKFZp761O17121|Mart6|Mar6|SIRH3" "Sushi-Ichi retrotransposon homolog 3|mammalian retrotransposon-derived 6" LDOC1L "leucine zipper down-regulated in cancer 1 like|LDOC1 like" Retrotransposon Gag like 1409 2004-06-07 2017-03-23 2017-03-23 2017-03-23 84247 ENSG00000188636 OTTHUMG00000150465 uc003beu.2 CR456439 NM_032287 CCDS33662 Q6ICC9 "15716091|16093683" MGI:2675858 RGD:1306472 HGNC:13343 "ENST00000341255.4|NM_032287.3" +HGNC:24514 RTL8A retrotransposon Gag like 8A protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "DKFZP564B147|MAR8A|CXX1b|SIRH6" "Sushi-Ichi retrotransposon homolog 6|mammalian retrotransposon-derived 8A" FAM127B "family with sequence similarity 127, member B|family with sequence similarity 127 member B" Retrotransposon Gag like 1409 2006-11-16 2017-03-23 2017-03-23 2017-03-23 26071 ENSG00000203950 OTTHUMG00000022466 uc004eyf.4 AL117556 NM_001078172 CCDS43998 Q9BWD3 "9403077|15716091" "MGI:1913408|MGI:3576504|MGI:1920115" RGD:1593086 HGNC:24514 "ENST00000370775.3|NM_001078172.2" +HGNC:33156 RTL8B retrotransposon Gag like 8B protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "MAR8B|CXX1c|SIRH4" "Sushi-Ichi retrotransposon homolog 1|mammalian retrotransposon-derived 2" FAM127C "family with sequence similarity 127, member C|family with sequence similarity 127 member C" Retrotransposon Gag like 1409 2006-11-16 2017-03-23 2017-03-23 2017-03-23 441518 ENSG00000212747 OTTHUMG00000022464 uc004eyc.2 BC048268 NM_001078173 CCDS43996 Q17RB0 "9403077|15716091" "MGI:1913408|MGI:3576504|MGI:1920115" RGD:1595540 HGNC:33156 "ENST00000391440.3|NM_001078173.2" +HGNC:2569 RTL8C retrotransposon Gag like 8C protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "Mart8|Mar8|MAR8C|SIRH5" "Sushi-Ichi retrotransposon homolog 5|mammalian retrotransposon-derived 8C" "CXX1|FAM127A" "CAAX box 1|family with sequence similarity 127, member A|family with sequence similarity 127 member A" Retrotransposon Gag like 1409 1999-01-11 2017-03-23 2017-03-23 2017-08-17 8933 ENSG00000134590 OTTHUMG00000022465 uc004eyd.4 Y13374 NM_001078171 CCDS43997 "A6ZKI3|O15255" "9403077|15716091|16093683" "MGI:1913408|MGI:3576504|MGI:1920115" 300213 HGNC:2569 "ENST00000257013.9|NM_001078171.2" +HGNC:29245 RTL9 retrotransposon Gag like 9 protein-coding gene gene with protein product Approved Xq23 Xq23 "KIAA1318|Mart9|Mar9|SIRH10" "Sushi-Ichi retrotransposon homolog 10|mammalian retrotransposon-derived 9" RGAG1 retrotransposon gag domain containing 1 Retrotransposon Gag like 1409 2004-08-27 2017-03-23 2017-03-23 2020-04-02 57529 ENSG00000243978 OTTHUMG00000022196 uc004eor.2 AY121804 NM_020769 CCDS14552 Q8NET4 "10718198|15716091|16093683" MGI:2685231 RGD:6486824 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/RGAG1 300965 HGNC:29245 +HGNC:26112 RTL10 retrotransposon Gag like 10 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "FLJ21125|BOP" BH3-only protein C22orf29 chromosome 22 open reading frame 29 "BCL2 homology region 3 (BH3) only|Retrotransposon Gag like" "1277|1409" 2006-07-05 2017-04-20 2017-04-20 2017-04-20 79680 ENSG00000215012 OTTHUMG00000030314 uc002zqi.4 BX640998 NM_024627 CCDS13769 Q7L3V2 23055042 MGI:3833934 RGD:7676248 HGNC:26112 "ENST00000328554.9|NM_024627.6" +HGNC:10467 RTN1 reticulon 1 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 NSP neuroendocrine-specific protein MicroRNA protein coding host genes 1691 1993-08-24 2016-10-05 6252 ENSG00000139970 OTTHUMG00000028947 uc001xek.3 L10333 NM_001363702 "CCDS9740|CCDS86396|CCDS9741" Q16799 8275708 MGI:1933947 RGD:620986 600865 HGNC:10467 "ENST00000267484.10|NM_021136.3" +HGNC:10468 RTN2 reticulon 2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "NSP2|NSPL1" "NSP-like protein 1|Neuroendocrine-specific protein-like 1" SPG12 spastic paraplegia 12 (autosomal dominant) 1997-07-01 2021-05-26 6253 ENSG00000125744 OTTHUMG00000182123 uc002pcc.5 AF038540 NM_005619 "CCDS46114|CCDS12666|CCDS12665" O75298 "8812484|9530622|22232211" MGI:107612 RGD:1303245 603183 180211 HGNC:10468 "ENST00000245923.9|NM_005619.5" HGNC:10468 +HGNC:10469 RTN3 reticulon 3 protein-coding gene gene with protein product Approved 11q13 11q13 "NSPL2|NSPLII|ASYIP|HAP|RTN3-A1" "neuroendocrine-specific protein-like 2|NSP-like protein II|isoforme III|ASY interacting protein|homolog of ASY protein" 1998-12-11 2014-11-19 10313 ENSG00000133318 OTTHUMG00000168056 uc001nxo.4 AF059524 NM_006054 "CCDS8050|CCDS8049|CCDS41664|CCDS8048|CCDS58141|CCDS58142|CCDS58143" O95197 10331947 MGI:1339970 RGD:620988 604249 HGNC:10469 "ENST00000377819.10|NM_001265589.2" +HGNC:19212 RTN3P1 reticulon 3 pseudogene 1 pseudogene pseudogene Approved 4q31.21 04q31.21 RTN3PS reticulon 3 pseudogene 2003-07-14 2011-01-14 2011-01-14 2020-04-20 152905 ENSG00000251333 OTTHUMG00000161594 NG_005175 12832288 PGOHUM00000246096 HGNC:19212 +HGNC:14085 RTN4 reticulon 4 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 "NSP-CL|KIAA0886|NOGO|ASY" 2000-11-28 2015-08-25 57142 ENSG00000115310 OTTHUMG00000129337 uc002ryg.4 AF087901 NM_001321859 "CCDS42685|CCDS42683|CCDS1851|CCDS1852|CCDS42684" Q9NQC3 "10667797|10773680" MGI:1915835 RGD:620989 604475 objectId:2838 HGNC:14085 "ENST00000337526.11|NM_020532.5" +HGNC:18647 RTN4IP1 reticulon 4 interacting protein 1 protein-coding gene gene with protein product Approved 6q21 06q21 NIMP 2002-05-23 2021-05-26 84816 ENSG00000130347 OTTHUMG00000015304 uc003prj.4 AF336861 NM_001318746 CCDS5056 Q8WWV3 MGI:2178759 RGD:1563384 610502 471014 HGNC:18647 "ENST00000369063.8|NM_032730.5" HGNC:18647 +HGNC:18601 RTN4R reticulon 4 receptor protein-coding gene gene with protein product Approved 22q11.21 22q11.21 NOGOR NOGO receptor MicroRNA protein coding host genes 1691 2002-04-30 2019-02-26 65078 ENSG00000040608 OTTHUMG00000150572 uc002zrv.4 AF283463 NM_023004 CCDS13777 Q9BZR6 11201742 MGI:2136886 RGD:620810 605566 HGNC:18601 "ENST00000043402.8|NM_023004.6" +HGNC:21329 RTN4RL1 reticulon 4 receptor like 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "NGRH2|NgR3|DKFZp547J144" nogo-66 receptor homolog 2 reticulon 4 receptor-like 1 2004-01-30 2016-04-01 2019-08-21 146760 ENSG00000185924 OTTHUMG00000180184 uc002ftp.4 AF532859 NM_178568 CCDS45569 Q86UN2 MGI:2661375 RGD:727812 610461 HGNC:21329 "ENST00000331238.7|NM_178568.4" +HGNC:23053 RTN4RL2 reticulon 4 receptor like 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "NgR2|NGRH1" 2004-01-30 2017-02-21 2017-02-21 349667 ENSG00000186907 OTTHUMG00000167028 uc010rjt.4 BK001302 NM_178570 CCDS7957 Q86UN3 MGI:2669796 RGD:727797 610462 HGNC:23053 "ENST00000335099.8|NM_178570.3" +HGNC:28580 RTP1 receptor transporter protein 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "MGC35450|Z3CXXC1" "receptor transporting protein 1|zinc finger, 3CxxC-type 1" "Zinc fingers 3CxxC-type|Receptor transporter proteins" "137|719" 2006-02-07 2016-05-05 2017-12-06 132112 ENSG00000175077 OTTHUMG00000149886 uc003frg.3 BC034744 NM_153708 CCDS3287 P59025 "16271481|15550249|16720576" MGI:2685450 RGD:1560980 609137 HGNC:28580 "ENST00000312295.5|NM_153708.3" +HGNC:32486 RTP2 receptor transporter protein 2 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "MGC78665|Z3CXXC2" "receptor transporting protein 2|zinc finger, 3CxxC-type 2" "Zinc fingers 3CxxC-type|Receptor transporter proteins" "137|719" 2006-02-07 2016-05-05 2017-12-06 344892 ENSG00000198471 OTTHUMG00000156458 uc003fro.1 AY562236 NM_001004312 CCDS33911 Q5QGT7 "16271481|15550249|16720576" MGI:2685451 RGD:1565722 609138 HGNC:32486 +HGNC:15572 RTP3 receptor transporter protein 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "LTM1|Z3CXXC3" zinc finger, 3CxxC-type 3 TMEM7 TMEM7 "Zinc fingers 3CxxC-type|Receptor transporter proteins" "137|719" 2001-04-24 2006-02-07 2016-05-05 2017-12-06 83597 ENSG00000163825 OTTHUMG00000133483 uc003cps.2 AJ312776 NM_031440 CCDS2740 Q9BQQ7 "16271481|15550249|16720576" MGI:2446841 RGD:1310546 607181 HGNC:15572 "ENST00000296142.4|NM_031440.2" +HGNC:23992 RTP4 receptor transporter protein 4 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "IFRG28|Z3CXXC4" zinc finger, 3CxxC-type 4 "Zinc fingers 3CxxC-type|Receptor transporter proteins" "137|719" 2006-02-07 2016-05-05 2017-12-06 64108 ENSG00000136514 OTTHUMG00000156459 uc003frm.4 BC013161 NM_022147 CCDS33910 Q96DX8 "16271481|15550249|16720576" MGI:1915025 RGD:1306974 609350 HGNC:23992 "ENST00000259030.3|NM_022147.3" +HGNC:26585 RTP5 receptor transporter protein 5 (putative) protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ33590|Z3CXXC5" zinc finger, 3CxxC-type 5 "C2orf85|CXXC11" "chromosome 2 open reading frame 85|CXXC finger protein 11|receptor (chemosensory) transporter protein 5 (putative)" "Zinc fingers 3CxxC-type|Receptor transporter proteins" "137|719" 2009-01-27 2014-02-20 2016-05-05 2016-05-05 285093 ENSG00000188011 OTTHUMG00000151341 AK090909 NM_173821 CCDS42843 Q14D33 HGNC:26585 "ENST00000343216.3|NM_173821.3" +HGNC:23169 RTRAF RNA transcription, translation and transport factor protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "CGI-99|RLLM1|CLE|CLE7|LCRP369|hCLE1" RLL motif containing 1 C14orf166 chromosome 14 open reading frame 166 tRNA splicing ligase complex 1345 2003-09-25 2017-08-17 2017-08-17 2017-08-17 51637 ENSG00000087302 OTTHUMG00000152332 uc010aod.4 AF151857 NM_016039 CCDS9705 Q9Y224 "11507205|24608264|26864902" MGI:1915295 RGD:1304704 610858 HGNC:23169 "ENST00000261700.8|NM_016039.3" +HGNC:54647 RTRAFP1 RTRAF pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 2019-11-06 2019-11-06 100420892 ENSG00000225496 NG_023600 +HGNC:54648 RTRAFP2 RTRAF pseudogene 2 pseudogene pseudogene Approved 5q15 05q15 2019-11-06 2019-11-06 100420911 ENSG00000225165 NG_024700 +HGNC:18654 RTTN rotatin protein-coding gene gene with protein product Approved 18q22.2 18q22.2 DKFZP434G145 Armadillo like helical domain containing 1492 2002-07-11 2021-05-26 25914 ENSG00000176225 OTTHUMG00000178694 uc002lkp.4 AL117635 NM_173630 CCDS42443 Q86VV8 11900971 MGI:2179288 RGD:1306706 610436 319033 HGNC:18654 "ENST00000640769.2|NM_173630.4" HGNC:18654 +HGNC:28991 RUBCN rubicon autophagy regulator protein-coding gene gene with protein product Approved 3q29 03q29 "rubicon|rundataxin" KIAA0226 "KIAA0226|RUN and cysteine rich domain containing beclin 1 interacting protein" "PIK3C3 complex subunits|MicroRNA protein coding host genes" "1596|1691" 2005-01-21 2015-10-16 2018-11-30 2021-04-13 9711 ENSG00000145016 OTTHUMG00000155452 D86979 NM_001145642 "CCDS46987|CCDS43195" Q92622 "9039502|19270693|20826435" MGI:1915160 RGD:1305422 LRG_1093|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1093.xml 613516 406905 HGNC:28991 "ENST00000296343.10|NM_014687.4" HGNC:28991 +HGNC:20420 RUBCNL rubicon like autophagy enhancer protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "FLJ21562|PACER" "C13orf18|KIAA0226L" "chromosome 13 open reading frame 18|KIAA0226 like|RUN and cysteine rich domain containing beclin 1 interacting protein like" PIK3C3 complex subunits 1596 2003-02-20 2016-07-26 2018-12-21 2018-12-21 80183 ENSG00000102445 OTTHUMG00000016868 uc001vbi.6 AK025215 NM_025113 "CCDS31970|CCDS66544|CCDS66545|CCDS66542|CCDS66543|CCDS73569" Q9H714 "23522960|28306502" MGI:2685590 RGD:1304929 HGNC:20420 "ENST00000429979.6|NM_025113.5" +HGNC:19760 RUFY1 RUN and FYVE domain containing 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ22251|ZFYVE12|RABIP4" Zinc fingers FYVE-type 81 2002-11-26 2015-08-25 80230 ENSG00000176783 OTTHUMG00000130913 uc003mka.3 AF361055 NM_001040451 "CCDS34312|CCDS4445" Q96T51 11877430 MGI:2429762 RGD:1305099 610327 HGNC:19760 "ENST00000319449.9|NM_025158.5" +HGNC:40903 RUFY1-AS1 RUFY1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Antisense RNAs 1987 2020-03-19 2020-03-19 101928445 ENSG00000244945 OTTHUMG00000163175 NR_110560 +HGNC:19761 RUFY2 RUN and FYVE domain containing 2 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "RABIP4R|FLJ10063|KIAA1537|ZFYVE13" Zinc fingers FYVE-type 81 2002-11-26 2016-10-05 55680 ENSG00000204130 OTTHUMG00000018353 uc001job.4 AF461266 NM_017987 "CCDS44414|CCDS41534|CCDS60544|CCDS81470" Q8WXA3 11877430 MGI:1917682 RGD:1592188 610328 471016 HGNC:19761 "ENST00000602465.6|NM_001330103.2" +HGNC:30285 RUFY3 RUN and FYVE domain containing 3 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "RIPx|KIAA0871|Singar1|ZFYVE30" single axon-related 1 Zinc fingers FYVE-type 81 2005-11-28 2015-01-14 22902 ENSG00000018189 OTTHUMG00000129910 uc003hfr.4 AF112221 NM_014961 "CCDS75138|CCDS47068|CCDS34001|CCDS3547" Q7L099 17439943 MGI:106484 RGD:1565242 611194 HGNC:30285 "ENST00000381006.8|NM_001037442.4" +HGNC:24804 RUFY4 RUN and FYVE domain containing 4 protein-coding gene gene with protein product Approved 2q35 02q35 "FLJ46536|ZFYVE31" Zinc fingers FYVE-type 81 2006-07-14 2015-01-14 285180 ENSG00000188282 OTTHUMG00000155235 uc061shw.1 AK128393 NM_198483 Q6ZNE9 MGI:3588214 RGD:1560678 HGNC:24804 +HGNC:25418 RUNDC1 RUN domain containing 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 DKFZp761H0421 2004-02-27 2020-04-02 146923 ENSG00000198863 OTTHUMG00000180659 uc002ici.1 AL831813 NM_173079 CCDS11448 Q96C34 16929179 MGI:2144506 RGD:1307490 619250 HGNC:25418 "ENST00000361677.6|NM_173079.5" +HGNC:16984 RUNDC3A RUN domain containing 3A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RPIP8|RAP2IP" 2007-08-20 2014-11-19 10900 ENSG00000108309 OTTHUMG00000169259 uc002igl.5 AF055026 NM_006695 "CCDS45698|CCDS59294|CCDS45699" Q59EK9 9523700 MGI:1858752 RGD:735057 605448 HGNC:16984 "ENST00000426726.8|NM_001144825.2" +HGNC:51344 RUNDC3A-AS1 RUNDC3A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.31 17q21.31 Antisense RNAs 1987 2014-10-10 2021-07-21 101926996 ENSG00000267750 OTTHUMG00000132629 "AK055254|BC051705" NR_110802 34046406 RUNDC3A-AS1 HGNC:51344 +HGNC:30286 RUNDC3B RUN domain containing 3B protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "RPIP9|RPIB9" 2007-08-20 2014-11-18 154661 ENSG00000105784 OTTHUMG00000131035 uc011khe.3 NM_138290 "CCDS47636|CCDS47635|CCDS5609" Q96NL0 12645870 MGI:2685286 RGD:1587590 617295 HGNC:30286 "ENST00000394654.4|NM_001134405.2" HGNC:30286 +HGNC:10471 RUNX1 RUNX family transcription factor 1 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 "PEBP2A2|AMLCR1" aml1 oncogene "AML1|CBFA2" "acute myeloid leukemia 1|runt-related transcription factor 1|runt related transcription factor 1" Runt-related transcription factors 1880 1991-08-20 2019-04-04 2021-09-27 861 ENSG00000159216 OTTHUMG00000086299 uc002yuk.6 X79549 NM_001001890 "CCDS46646|CCDS42922|CCDS13639" Q01196 "1427868|7835892" MGI:99852 RGD:2283 LRG_482|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_482.xml RUNX1 151385 118423 HGNC:10471 "ENST00000675419.1|NM_001754.5" HGNC:10471 +HGNC:16623 RUNX1-IT1 RUNX1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 FLJ20856 C21orf96 "chromosome 21 open reading frame 96|RUNX1 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2003-10-01 2011-11-23 2015-02-25 2020-06-03 80215 AK024509 NR_026812 32487998 RUNX1-IT1 HGNC:16623 +HGNC:1535 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "CDR|ETO|MTG8|ZMYND2" "AML1T1|CBFA2T1" "core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related|runt related transcription factor 1; translocated to, 1 (cyclin D related)|RUNX1 translocation partner 1" Zinc fingers MYND-type 87 1993-12-16 2005-01-22 2019-05-17 2020-09-17 862 ENSG00000079102 OTTHUMG00000164066 uc022axv.2 D43638 "NM_004349|NM_175635" "CCDS47891|CCDS75767|CCDS75766|CCDS56544|CCDS6256|CCDS6257" Q06455 "1391946|9790752" MGI:104793 RGD:1305490 RUNX1T1 133435 171663 HGNC:1535 +HGNC:10472 RUNX2 RUNX family transcription factor 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "AML3|PEBP2A1|PEBP2aA1" "CCD|CBFA1|CCD1" "runt-related transcription factor 2|runt related transcription factor 2" Runt-related transcription factors 1880 1994-11-02 2019-04-04 2021-05-26 860 ENSG00000124813 OTTHUMG00000014774 uc011dvy.2 AF001450 NM_004348 "CCDS64443|CCDS43467|CCDS43468" Q13950 7835892 MGI:99829 RGD:2282 600211 118429 HGNC:10472 "ENST00000647337.2|NM_001024630.4" HGNC:10472 +HGNC:53512 RUNX2-AS1 RUNX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 Antisense RNAs 1987 2017-05-12 2017-05-12 105375077 ENSG00000261080 OTTHUMG00000175917 XR_007059599 HGNC:53512 +HGNC:10473 RUNX3 RUNX family transcription factor 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "AML2|PEBP2A3" CBFA3 "runt-related transcription factor 3|runt related transcription factor 3" "MicroRNA protein coding host genes|Runt-related transcription factors" "1691|1880" 1994-11-02 2019-04-04 2019-04-04 864 ENSG00000020633 OTTHUMG00000003316 uc001bjq.4 BC013362 NM_004350 "CCDS30633|CCDS257" Q13761 7835892 MGI:102672 RGD:620082 600210 HGNC:10473 "ENST00000308873.11|NM_004350.3" +HGNC:40513 RUNX3-AS1 RUNX3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Antisense RNAs 1987 2020-03-19 2020-03-19 105376878 ENSG00000229162 OTTHUMG00000003322 XR_001737934 +HGNC:17153 RUSC1 RUN and SH3 domain containing 1 protein-coding gene gene with protein product Approved 1q22 01q22 NESCA 2003-02-24 2016-10-05 23623 ENSG00000160753 OTTHUMG00000013910 uc001fkp.4 AB026894 NM_001105203 "CCDS41412|CCDS1112|CCDS41410|CCDS41411" Q9BVN2 10760598 MGI:1919546 RGD:2322139 617318 HGNC:17153 "ENST00000368352.10|NM_001105203.2" +HGNC:26680 RUSC1-AS1 RUSC1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q22 01q22 FLJ35976 C1orf104 "chromosome 1 open reading frame 104|RUSC1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-06-03 2011-04-28 2012-08-15 2019-08-08 284618 ENSG00000225855 OTTHUMG00000013912 uc057lpu.1 AK093295 NR_145424 Q66K80 31378902 RUSC1-AS1 HGNC:26680 +HGNC:23625 RUSC2 RUN and SH3 domain containing 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 KIAA0375 Iporin 2003-12-02 2021-05-26 9853 ENSG00000198853 OTTHUMG00000019861 uc003zww.4 AB002373 NM_001135999 CCDS35008 Q8N2Y8 "27612186|27238570|15375525" MGI:2140371 RGD:1592688 611053 HGNC:23625 "ENST00000361226.8|NM_014806.5" HGNC:23625 +HGNC:25848 RUSF1 RUS family member 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ13868 "RUS1 homolog|root UVB sensitivity" C16orf58 chromosome 16 open reading frame 58 2006-02-17 2020-01-23 2020-01-23 2020-01-23 64755 ENSG00000140688 OTTHUMG00000132466 uc002eci.4 AK023930 NM_022744 CCDS10715 Q96GQ5 "19515790|21511809" MGI:2384572 RGD:1310127 HGNC:25848 "ENST00000327237.7|NM_022744.4" +HGNC:56038 RUSF1-DT RUSF1 divergent transcript non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Divergent transcripts 1990 2021-12-08 2021-12-08 123706528 ENSG00000260625 +HGNC:10474 RUVBL1 RuvB like AAA ATPase 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "TIP49|NMP238|RVB1|TIP49a|Pontin52|ECP54|TIH1|Rvb1|INO80H" "pontin|INO80 complex subunit H" "RuvB (E coli homolog)-like 1|RuvB-like 1 (E. coli)|RuvB-like AAA ATPase|RuvB-like AAA ATPase 1" "AAA ATPases|INO80 complex |DNA helicases|SRCAP complex|R2TP complex|Tip60/Nua4 histone acetyltransferase complex subunits|R2SP complex" "413|595|1167|1329|1401|1634|2007" 1998-11-19 2016-01-27 2016-10-05 8607 ENSG00000175792 OTTHUMG00000159658 uc003ekh.4 AF070735 NM_001319084 "CCDS3047|CCDS82833" Q9Y265 "9774387|9588198" MGI:1928760 RGD:68373 603449 HGNC:10474 "ENST00000322623.10|NM_003707.3" +HGNC:40514 RUVBL1-AS1 RUVBL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.3 03q21.3 RUVBL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874089 ENSG00000239608 OTTHUMG00000159660 uc062nnn.1 NR_046645 RUVBL1-AS1 HGNC:40514 +HGNC:10475 RUVBL2 RuvB like AAA ATPase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "RVB2|TIP48|TIP49b|Reptin52|ECP51|TIH2|INO80J|Rvb2" "reptin|INO80 complex subunit J" "RuvB (E coli homolog)-like 2|RuvB-like 2 (E. coli)" "AAA ATPases|INO80 complex |DNA helicases|SRCAP complex|R2TP complex|Tip60/Nua4 histone acetyltransferase complex subunits|MicroRNA protein coding host genes|R2SP complex" "413|595|1167|1329|1401|1634|1691|2007" 1999-09-07 2016-03-07 2016-03-07 10856 ENSG00000183207 OTTHUMG00000183333 uc002plr.2 AF155138 NM_001321190 CCDS42588 Q9Y230 "10428817|10998447" MGI:1342299 RGD:1306509 604788 HGNC:10475 "ENST00000595090.6|NM_006666.3" +HGNC:55128 RUVBL2P1 RUVBL2 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2020-07-02 2020-07-02 392538 ENSG00000226802 NG_022701 +HGNC:20993 RWDD1 RWD domain containing 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 PTD013 2003-04-30 2016-10-05 51389 ENSG00000111832 OTTHUMG00000015441 uc003pxd.5 AF092134 NM_015952 "CCDS43496|CCDS34520" Q9H446 10810093 MGI:1913771 RGD:631337 HGNC:20993 "ENST00000466444.7|NM_015952.4" +HGNC:31055 RWDD1P1 RWD domain containing 1 pseudogene 1 pseudogene pseudogene Approved 15q25.1 15q25.1 2004-03-31 2014-11-19 404551 NG_028864 PGOHUM00000247192 HGNC:31055 +HGNC:31794 RWDD1P3 RWD domain containing 1 pseudogene 3 pseudogene pseudogene Approved 12q21.2 12q21.2 RWDD1L1 RWD domain containing 1-like 1 2004-08-02 2010-10-15 2010-10-15 2010-10-15 727789 XR_015128 PGOHUM00000239868 HGNC:31794 +HGNC:21385 RWDD2A RWD domain containing 2A protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "MGC13523|dJ747H23.2" RWDD2 RWD domain containing 2 2003-06-11 2007-07-17 2007-07-17 2016-10-05 112611 ENSG00000013392 OTTHUMG00000015109 uc003pjx.5 BC010930 NM_033411 CCDS4998 Q9UIY3 MGI:1916769 RGD:1306231 HGNC:21385 "ENST00000369724.5|NM_033411.5" +HGNC:1302 RWDD2B RWD domain containing 2B protein-coding gene gene with protein product Approved 21q21.3 21q21.3 GL011 C21orf6 chromosome 21 open reading frame 6 1999-05-14 2007-07-17 2007-07-17 2020-09-17 10069 ENSG00000156253 OTTHUMG00000078805 uc002yms.4 AF212232 NM_001320724 CCDS13582 P57060 10729227 MGI:1858215 RGD:1305062 617843 HGNC:1302 "ENST00000493196.2|NM_016940.3" +HGNC:21393 RWDD3 RWD domain containing 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "DKFZP566K023|RSUME" RWD-containing sumoylation enhancer 2003-06-11 2019-03-01 25950 ENSG00000122481 OTTHUMG00000010910 uc009wdu.3 BC010936 NM_015485 "CCDS41357|CCDS44177" Q9Y3V2 "17956732|29622689|29977365" MGI:1920420 RGD:620472 615875 HGNC:21393 "ENST00000370202.5|NM_015485.5" +HGNC:55839 RWDD3-DT RWDD3 divergent transcript non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 Divergent transcripts 1990 2021-08-02 2021-08-02 101928118 ENSG00000226026 NR_125948 +HGNC:23750 RWDD4 RWD domain containing 4 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 MGC10198 "FAM28A|RWDD4A" "family with sequence similarity 28, member A|RWD domain containing 4A" 2005-10-04 2010-09-30 2010-09-30 2015-09-09 201965 ENSG00000182552 OTTHUMG00000160632 uc063bgm.1 BC017472 NM_152682 "CCDS77986|CCDS34111" Q6NW29 MGI:2681000 RGD:1564132 HGNC:23750 "ENST00000326397.10|NM_152682.4" +HGNC:23753 RWDD4P1 RWD domain containing 4 pseudogene 1 pseudogene pseudogene Approved 7q22.3 07q22.3 FAM28BP family with sequence similarity 28, member B pseudogene 2010-09-30 2004-07-12 2014-11-19 100419903 ENSG00000244490 OTTHUMG00000157404 NG_026613 PGOHUM00000233515 HGNC:23753 +HGNC:23754 RWDD4P2 RWD domain containing 4 pseudogene 2 pseudogene pseudogene Approved 7p14.1 07p14.1 FAM28CP family with sequence similarity 28, member C pseudogene 2010-09-30 2004-07-12 2014-11-19 647009 ENSG00000175741 OTTHUMG00000155282 NG_005562 PGOHUM00000232667 HGNC:23754 +HGNC:19718 RXFP1 relaxin family peptide receptor 1 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 RXFPR1 LGR7 "leucine-rich repeat-containing G protein-coupled receptor 7|relaxin/insulin like family peptide receptor 1" Relaxin family peptide receptors 217 2003-12-04 2006-05-09 2018-02-23 2018-02-23 59350 ENSG00000171509 OTTHUMG00000149973 uc003ipz.4 AF190500 NM_021634 "CCDS58929|CCDS58930|CCDS87277|CCDS75205|CCDS75206|CCDS43276|CCDS75204" Q9HBX9 "15956688|16507880" MGI:2682211 RGD:1302973 606654 objectId:351 HGNC:19718 "ENST00000307765.10|NM_021634.4" +HGNC:17318 RXFP2 relaxin family peptide receptor 2 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "GREAT|GPR106|INSL3R|RXFPR2" LGR8 "leucine-rich repeat-containing G protein-coupled receptor 8|relaxin/insulin like family peptide receptor 2" Relaxin family peptide receptors 217 2004-02-10 2006-05-09 2018-02-23 2018-02-23 122042 ENSG00000133105 OTTHUMG00000016690 uc001utt.4 AF403384 NM_130806 "CCDS9342|CCDS53862" Q8WXD0 "12217959|12970298|15956688|16507880" MGI:2153463 RGD:1309449 606655 objectId:352 HGNC:17318 "ENST00000298386.7|NM_130806.5" HGNC:17318 +HGNC:24883 RXFP3 relaxin family peptide receptor 3 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "SALPR|GPCR135|RXFPR3" RLN3R1 "relaxin 3 receptor 1|relaxin family peptide receptor 3|relaxin/insulin like family peptide receptor 3" Relaxin family peptide receptors 217 2004-11-15 2006-03-15 2018-02-23 2018-02-23 51289 ENSG00000182631 OTTHUMG00000090685 uc003jic.3 D88437 NM_016568 CCDS3900 Q9NSD7 "15956688|16507880" MGI:2441827 RGD:1311550 609445 objectId:353 HGNC:24883 "ENST00000330120.5|NM_016568.3" +HGNC:14666 RXFP4 relaxin family peptide/INSL5 receptor 4 protein-coding gene gene with protein product Approved 1q22 01q22 "GPCR142|RXFPR4" "GPR100|RLN3R2" "G protein-coupled receptor 100|relaxin 3 receptor 2|relaxin family peptide receptor 4|relaxin/insulin like family peptide receptor 4" Relaxin family peptide receptors 217 2001-02-28 2006-03-15 2018-02-23 2018-02-23 339403 ENSG00000173080 OTTHUMG00000017463 uc010pgs.3 AB065617 NM_181885 CCDS1124 Q8TDU9 "15956688|16507880" MGI:2182926 RGD:2322332 609043 objectId:354 HGNC:14666 "ENST00000368318.5|NM_181885.3" +HGNC:10477 RXRA retinoid X receptor alpha protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "NR2B1|RXRalpha|RXR-alpha" nuclear receptor subfamily 2 group B member 1 retinoid X receptor, alpha "MicroRNA protein coding host genes|Retinoid X receptors" "1691|2086" 1991-11-14 2015-11-11 2021-12-08 6256 ENSG00000186350 OTTHUMG00000020887 uc004cfb.3 X52773 NM_002957 CCDS35172 P19793 2159111 MGI:98214 RGD:3610 180245 objectId:610 HGNC:10477 "ENST00000481739.2|NM_002957.6" +HGNC:10478 RXRB retinoid X receptor beta protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "NR2B2|H-2RIIBP|RCoR-1|RXRbeta|RXR-beta" nuclear receptor subfamily 2 group B member 2 retinoid X receptor, beta Retinoid X receptors 2086 1991-11-14 2015-11-11 2021-12-08 6257 ENSG00000204231 OTTHUMG00000031298 uc003odb.5 M84820 NM_021976 "CCDS59007|CCDS4768" P28702 8257090 MGI:98215 RGD:3611 180246 objectId:611 HGNC:10478 "ENST00000374680.4|NM_021976.5" +HGNC:10479 RXRG retinoid X receptor gamma protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "NR2B3|RXRgamma|RXR-gamma" nuclear receptor subfamily 2 group B member 3 retinoid X receptor, gamma Retinoid X receptors 2086 1991-11-14 2015-11-11 2021-12-08 6258 ENSG00000143171 OTTHUMG00000034626 uc001gda.4 U38480 NM_006917 "CCDS72970|CCDS1248" P48443 8034312 MGI:98216 RGD:620046 180247 471018 objectId:612 HGNC:10479 "ENST00000359842.10|NM_006917.5" +HGNC:13530 RXYLT1 ribitol xylosyltransferase 1 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 HP10481 TMEM5 transmembrane protein 5 Glycosyltransferase family 8 436 2000-09-20 2017-12-14 2017-12-14 2017-12-14 10329 ENSG00000118600 OTTHUMG00000168730 uc001srq.3 AB015633 NM_014254 "CCDS8966|CCDS61179" Q9Y2B1 "27130732|23217329|27733679" MGI:2384919 RGD:1309356 605862 317635 HGNC:13530 "ENST00000261234.11|NM_014254.3" HGNC:13530 +HGNC:48910 RXYLT1-AS1 RXYLT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q14.2 12q14.2 TMEM5-AS1 TMEM5 antisense RNA 1 Antisense RNAs 1987 2013-07-01 2018-02-22 2018-02-22 2018-02-22 104169670 ENSG00000255850 OTTHUMG00000168731 DB026756 NR_126167 TMEM5-AS1 HGNC:48910 +HGNC:10480 RYBP RING1 and YY1 binding protein protein-coding gene gene with protein product Approved 3p13 03p13 "YEAF1|AAP1|DEDAF" "YY1 and E4TF1 associated factor 1|ring1 interactor RYBP|apoptin-associating protein 1|death effector domain-associated factor" Zinc fingers RANBP2-type 89 2000-01-28 2016-10-05 23429 ENSG00000163602 OTTHUMG00000159190 uc003dpe.4 AF179286 NM_012234 Q8N488 10369680 MGI:1929059 RGD:1307077 607535 HGNC:10480 +HGNC:10481 RYK receptor like tyrosine kinase protein-coding gene gene with protein product Approved 3q22.2 03q22.2 "D3S3195|RYK1|JTK5" JTK5A "JTK5A protein tyrosine kinase|RYK receptor-like tyrosine kinase" Receptor tyrosine kinases 321 1993-09-28 2019-02-18 2019-02-18 6259 ENSG00000163785 OTTHUMG00000159750 uc032sdh.1 S59184 NM_001005861 "CCDS75016|CCDS77820" P34925 8386829 MGI:101766 RGD:620549 600524 objectId:1849 2.7.10.1 HGNC:10481 "ENST00000623711.4|NM_002958.4" +HGNC:10482 RYKP1 RYK pseudogene 1 pseudogene pseudogene Approved 17p13.2 17p13.2 JTK5 "RYKL1|JTK5B|RYKP" "RYK receptor-like tyrosine kinase-like 1|JTK5B protein tyrosine kinase|RYK receptor-like tyrosine kinase pseudogene|RYK receptor-like tyrosine kinase pseudogene 1|receptor-like tyrosine kinase pseudogene 1" 1993-09-28 2010-03-05 2019-02-18 2019-02-18 6260 ENSG00000263219 OTTHUMG00000177729 AC087742 NG_005810 "8386829|10066802" PGOHUM00000305936 HGNC:10482 +HGNC:10483 RYR1 ryanodine receptor 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "RYR|PPP1R137" protein phosphatase 1, regulatory subunit 137 "MHS|MHS1|CCO" "central core disease of muscle|ryanodine receptor 1 (skeletal)" "Ryanodine receptors|Protein phosphatase 1 regulatory subunits" "287|694" 1989-12-01 2016-01-25 2021-05-26 6261 ENSG00000196218 OTTHUMG00000182403 uc002oit.4 J05200 NM_000540 "CCDS33011|CCDS42563" P21817 "1862346|16621918" MGI:99659 RGD:1586637 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=RYR1|LRG_766|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_766.xml" 180901 118437 objectId:747 HGNC:10483 "ENST00000359596.8|NM_000540.3" HGNC:10483 +HGNC:10484 RYR2 ryanodine receptor 2 protein-coding gene gene with protein product Approved 1q43 01q43 "ARVC2|VTSIP" ARVD2 "arrhythmogenic right ventricular dysplasia 2|ryanodine receptor 2 (cardiac)" "Ryanodine receptors|EF-hand domain containing|Armadillo like helical domain containing|MicroRNA protein coding host genes" "287|863|1492|1691" 1989-12-07 2016-01-25 2021-05-26 6262 ENSG00000198626 OTTHUMG00000039543 uc001hyl.2 X91869 NM_001035 CCDS55691 Q92736 "2380170|8406504|11159936" MGI:99685 RGD:620314 "Gene Connection for the Heart - Catecholaminergic Polymorphic Ventricular Tachy cardia database|http://www.fsm.it/cardmoc/|LRG_402|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_402.xml" 180902 118443 objectId:748 HGNC:10484 "ENST00000366574.7|NM_001035.3" HGNC:10484 +HGNC:10485 RYR3 ryanodine receptor 3 protein-coding gene gene with protein product Approved 15q13.3-q14 15q13.3-q14 "Ryanodine receptors|EF-hand domain containing" "287|863" 1993-05-12 2021-05-26 6263 ENSG00000198838 OTTHUMG00000172253 uc284npy.1 NM_001036 "CCDS58351|CCDS45210" Q15413 8276408 MGI:99684 RGD:68952 180903 471020 objectId:749 HGNC:10485 "ENST00000634891.2|NM_001036.6" HGNC:10485 +HGNC:51417 RYR3-DT RYR3 divergent transcript non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 TCONS_l2_00009005 Divergent transcripts 1990 2020-07-02 2020-07-02 101928134 ENSG00000259446 OTTHUMG00000172252 "BX095733|AW450630|AI076052" NR_120326 +HGNC:3165 S1PR1 sphingosine-1-phosphate receptor 1 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "edg-1|D1S3362|CD363" EDG1 endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 "Sphingosine 1-phosphate receptors|CD molecules" "206|471" 1998-05-15 2008-04-30 2008-04-30 2016-10-05 1901 ENSG00000170989 OTTHUMG00000010835 uc001dud.3 M31210 NM_001400 CCDS777 P21453 "2160972|9488656" MGI:1096355 RGD:61958 601974 objectId:275 HGNC:3165 "ENST00000305352.7|NM_001400.5" +HGNC:55842 S1PR1-DT S1PR1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p21.2 01p21.2 Divergent transcripts 1990 2021-08-02 2021-08-02 101928370 ENSG00000225938 NR_104626 +HGNC:3169 S1PR2 sphingosine-1-phosphate receptor 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "Gpcr13|H218|AGR16" "EDG5|DFNB68" "endothelial differentiation, sphingolipid G-protein-coupled receptor, 5|deafness, autosomal recessive 68" Sphingosine 1-phosphate receptors 206 1999-03-09 2008-04-30 2008-04-30 2021-04-13 9294 ENSG00000267534 OTTHUMG00000180399 uc002mnl.3 AF034780 NM_004230 CCDS12229 O95136 "8087418|8878560|26805784" MGI:99569 RGD:68334 LRG_1356|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1356.xml 605111 454902 objectId:276 HGNC:3169 "ENST00000646641.1|NM_004230.4" HGNC:3169 +HGNC:3167 S1PR3 sphingosine-1-phosphate receptor 3 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 "EDG-3|FLJ37523|bA791O21.3" sphingosine-1-phosphate receptor 3 "EDG3|C9orf47|C9orf108" "endothelial differentiation, sphingolipid G-protein-coupled receptor, 3|chromosome 9 open reading frame 47|chromosome 9 open reading frame 108" Sphingosine 1-phosphate receptors 206 1998-05-15 2008-04-30 2008-04-30 2021-08-13 1903 ENSG00000213694 OTTHUMG00000020173 uc004aqe.5 AF022139 NM_005226 CCDS6680 Q99500 "8878560|9409733" MGI:1339365 RGD:1583843 601965 objectId:277 HGNC:3167 "ENST00000358157.3|NM_005226.4" +HGNC:3170 S1PR4 sphingosine-1-phosphate receptor 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 EDG6 "endothelial differentiation, G-protein-coupled receptor 6|endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6" Sphingosine 1-phosphate receptors 206 1998-12-09 2008-04-30 2008-04-30 2019-08-21 8698 ENSG00000125910 OTTHUMG00000180672 uc002lxg.4 AJ000479 NM_003775 CCDS12105 O95977 9790765 MGI:1333809 RGD:1304801 603751 objectId:278 HGNC:3170 "ENST00000246115.5|NM_003775.4" +HGNC:14299 S1PR5 sphingosine-1-phosphate receptor 5 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Edg-8 EDG8 endothelial differentiation, sphingolipid G-protein-coupled receptor, 8 Sphingosine 1-phosphate receptors 206 2001-01-02 2008-04-30 2008-04-30 2020-04-01 53637 ENSG00000180739 OTTHUMG00000180581 uc002mou.3 AK074661 NM_030760 CCDS12240 Q9H228 10799507 MGI:2150641 RGD:620566 605146 objectId:279 HGNC:14299 "ENST00000333430.6|NM_030760.5" +HGNC:10486 S100A1 S100 calcium binding protein A1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 S100-alpha S100A S100 calcium-binding protein A1 "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1991-07-10 2001-11-28 2016-10-05 6271 ENSG00000160678 OTTHUMG00000037041 uc001fck.1 BC014392 NM_006271 CCDS1047 P23297 1998503 MGI:1338917 RGD:3614 176940 HGNC:10486 "ENST00000292169.6|NM_006271.2" +HGNC:10492 S100A2 S100 calcium binding protein A2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 CAN19 S100L S100 calcium-binding protein A2 "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1993-10-04 2001-11-28 2016-10-05 6273 ENSG00000196754 OTTHUMG00000035031 uc057lbs.1 BC002829 NM_005978 CCDS1044 P29034 8341667 MGI:3510999 176993 HGNC:10492 "ENST00000368708.9|NM_005978.4" +HGNC:10493 S100A3 S100 calcium binding protein A3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 S100E S100 calcium-binding protein A3 S100 calcium binding proteins 459 1993-10-04 2001-11-28 2016-10-05 6274 ENSG00000188015 OTTHUMG00000013550 uc001fca.2 BC012893 NM_002960 CCDS1043 P33764 8341667 MGI:1338849 RGD:620260 176992 HGNC:10493 "ENST00000368713.8|NM_002960.2" +HGNC:10494 S100A4 S100 calcium binding protein A4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "P9KA|18A2|PEL98|42A|FSP1" "fibroblast-specific protein-1|calvasculin|murine placental homolog" "MTS1|CAPL" "metastasin 1|calcium placental protein|S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)" "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1989-06-30 2006-09-11 2018-05-02 6275 ENSG00000196154 OTTHUMG00000013546 uc057lbo.1 BC016300 NM_002961 CCDS1042 P26447 3155863 MGI:1330282 RGD:3245 114210 HGNC:10494 "ENST00000368716.9|NM_002961.3" +HGNC:10495 S100A5 S100 calcium binding protein A5 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 S100D S100 calcium-binding protein A5 "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1993-10-04 2001-11-28 2016-10-05 6276 ENSG00000196420 OTTHUMG00000013547 uc001fbx.3 Z18954 NM_002962 CCDS1041 P33763 8341667 MGI:1338915 RGD:1308996 176991 HGNC:10495 "ENST00000368717.3|NM_001394232.1" +HGNC:10496 S100A6 S100 calcium binding protein A6 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "2A9|PRA|CABP" CACY "calcyclin|S100 calcium-binding protein A6 (calcyclin)" "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1986-01-01 2006-09-11 2018-05-02 6277 ENSG00000197956 OTTHUMG00000013549 uc057lbh.1 BC001431 NM_014624 CCDS1040 P06703 MGI:1339467 RGD:620264 114110 HGNC:10496 "ENST00000368719.9|NM_014624.4" +HGNC:10497 S100A7 S100 calcium binding protein A7 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 S100A7c PSOR1 "S100 calcium-binding protein A7 (psoriasin 1)|S100 calcium binding protein A7 (psoriasin 1)" "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1992-10-08 2006-09-11 2016-10-05 6278 ENSG00000143556 OTTHUMG00000013123 uc001fbv.2 BC034687 NM_002963 CCDS1039 P31151 1940442 MGI:2687194 600353 HGNC:10497 "ENST00000368723.4|NM_002963.4" +HGNC:21657 S100A7A S100 calcium binding protein A7A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 S100A7f koebnerisin "S100A15|S100A7L1" "S100 calcium binding protein A15|S100 calcium binding protein A7-like 1" "S100 calcium binding proteins|EF-hand domain containing" "459|863" 2003-08-06 2006-09-11 2006-09-11 2018-05-02 338324 ENSG00000184330 OTTHUMG00000013122 uc001fbt.1 AY189118 NM_176823 CCDS30872 Q86SG5 "11230159|16938360" MGI:2687194 RGD:1593779 617427 HGNC:21657 "ENST00000368729.9|NM_176823.4" +HGNC:21655 S100A7L2 S100 calcium binding protein A7 like 2 other unknown Approved 1q21.3 01q21.3 s100a7b S100 calcium binding protein A7-like 2 "S100 calcium binding proteins|EF-hand domain containing" "459|863" 2003-10-15 2015-11-11 2021-11-11 645922 ENSG00000197364 OTTHUMG00000013129 uc010pdx.3 NG_056907 Q5SY68 MGI:2687194 RGD:1562234 HGNC:21655 +HGNC:21654 S100A7P1 S100 calcium binding protein A7 pseudogene 1 pseudogene pseudogene Approved 1q21.3 01q21.3 s100a7d S100A7L3 S100 calcium binding protein A7-like 3 S100 calcium binding proteins 459 2003-10-15 2006-09-11 2006-09-11 2018-05-02 127481 ENSG00000203781 OTTHUMG00000013121 NG_009595 HGNC:21654 +HGNC:21656 S100A7P2 S100 calcium binding protein A7 pseudogene 2 pseudogene pseudogene Approved 1q21.3 01q21.3 s100a7e S100A7L4 S100 calcium binding protein A7-like 4 (pseudogene) S100 calcium binding proteins 459 2003-10-15 2006-09-11 2006-09-11 2018-05-02 375027 NG_009592 HGNC:21656 +HGNC:10498 S100A8 S100 calcium binding protein A8 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "P8|MRP8|MRP-8|60B8AG|CGLA|S100-A8" "Migration inhibitory factor-related protein 8|Calprotectin L1L subunit|Leukocyte L1 complex light chain" "CAGA|CFAG" "calgranulin A|cystic fibrosis antigen" "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1989-05-19 2006-09-11 2021-09-17 6279 ENSG00000143546 OTTHUMG00000013124 uc001fbs.3 BC005928 NM_002964 CCDS1038 P05109 MGI:88244 RGD:620265 123885 HGNC:10498 "ENST00000368733.4|NM_002964.5" +HGNC:10499 S100A9 S100 calcium binding protein A9 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "P14|MIF|NIF|LIAG|MRP14|MAC387|60B8AG|CGLB|MRP-14|S100-A9" "Calprotectin L1H subunit|Leukocyte L1 complex heavy chain|Migration inhibitory factor-related protein 14" "CAGB|CFAG" "calgranulin B|S100 calcium-binding protein A9 (calgranulin B)" "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1989-05-19 2006-09-11 2021-09-07 6280 ENSG00000163220 OTTHUMG00000013125 uc001fbq.3 BC047681 NM_002965 CCDS1036 P06702 MGI:1338947 RGD:620267 123886 HGNC:10499 "ENST00000368738.4|NM_002965.4" +HGNC:10487 S100A10 S100 calcium binding protein A10 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "P11|42C|CLP11" "annexin II tetramer (AIIt) p11 subunit|calpactin I" "ANX2LG|CAL1L" S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11)) S100 calcium binding proteins 459 1992-09-10 2006-09-11 2018-05-02 6281 ENSG00000197747 OTTHUMG00000013068 uc001ezl.4 BC015973 NM_002966 CCDS1008 P60903 8276421 MGI:1339468 RGD:628655 114085 HGNC:10487 "ENST00000368811.8|NM_002966.3" +HGNC:10488 S100A11 S100 calcium binding protein A11 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 S100C calgizzarin S100 calcium-binding protein A11 (calgizzarin) "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1997-10-30 2006-09-11 2018-05-02 6282 ENSG00000163191 OTTHUMG00000013069 uc001ezn.3 D38583 NM_005620 CCDS1009 P31949 8985590 MGI:1338798 RGD:1303295 603114 objectId:3083 HGNC:10488 "ENST00000271638.3|NM_005620.2" +HGNC:10491 S100A11P1 S100A11 pseudogene 1 pseudogene pseudogene Approved 7q22.1 07q22.1 "S100A14|S100A11P" "S100 calcium-binding protein A14 (calgizzarin)|S100 calcium binding protein A11 pseudogene|S100 calcium binding protein A11 pseudogene 1" 2000-03-03 2010-03-05 2020-05-07 2020-05-07 729659 ENSG00000237632 OTTHUMG00000157211 AC004668 NG_008400 PGOHUM00000233507 HGNC:10491 +HGNC:37840 S100A11P2 S100A11 pseudogene 2 pseudogene pseudogene Approved 7p14.2 07p14.2 S100 calcium binding protein A11 pseudogene 2 2010-03-05 2020-05-07 2020-05-07 347701 ENSG00000236592 OTTHUMG00000155025 NG_002702 PGOHUM00000233177 HGNC:37840 +HGNC:37842 S100A11P3 S100A11 pseudogene 3 pseudogene pseudogene Approved 11q13.4 11q13.4 S100 calcium binding protein A11 pseudogene 3 2010-03-05 2020-05-07 2020-05-07 645474 NG_022983 PGOHUM00000242351 HGNC:37842 +HGNC:37841 S100A11P4 S100A11 pseudogene 4 pseudogene pseudogene Approved 12q14.2 12q14.2 S100 calcium binding protein A11 pseudogene 4 2010-09-30 2020-05-07 2020-05-07 100506938 NG_031909 PGOHUM00000239828 HGNC:37841 +HGNC:54954 S100A11P5 S100A11 pseudogene 5 pseudogene pseudogene Approved Xp11.23 Xp11.23 2020-05-07 2020-05-07 107985628 ENSG00000238032 +HGNC:54955 S100A11P6 S100A11 pseudogene 6 pseudogene pseudogene Approved Xp11.23 Xp11.23 2020-05-07 2020-05-07 107985718 ENSG00000232813 +HGNC:54956 S100A11P7 S100A11 pseudogene 7 pseudogene pseudogene Approved Xp11.23 Xp11.23 2020-05-07 2020-05-07 107985639 ENSG00000231568 +HGNC:54957 S100A11P8 S100A11 pseudogene 8 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 107985660 ENSG00000269281 +HGNC:54958 S100A11P9 S100A11 pseudogene 9 pseudogene pseudogene Approved Xp11.23 Xp11.23 2020-05-07 2020-05-07 107985655 ENSG00000270747 +HGNC:54961 S100A11P10 S100A11 pseudogene 10 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 107987333 ENSG00000237275 +HGNC:10489 S100A12 S100 calcium binding protein A12 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "p6|MRP6|CGRP|CAAF1|CAGC|ENRAGE" "extracellular newly identified RAGE-binding protein|calcium-binding protein in amniotic fluid 1|migration inhibitory factor-related protein 6|neutrophil S100 protein|calgranulin C" S100 calcium-binding protein A12 (calgranulin C) "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1997-10-30 2006-09-11 2018-05-02 6283 ENSG00000163221 OTTHUMG00000013127 uc001fbr.2 BC070294 NM_005621 CCDS1037 P80511 8985590 603112 HGNC:10489 "ENST00000368737.5|NM_005621.2" +HGNC:10490 S100A13 S100 calcium binding protein A13 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 S100 calcium-binding protein A13 S100 calcium binding proteins 459 1997-10-30 2001-11-28 2016-10-05 6284 ENSG00000189171 OTTHUMG00000036641 uc057lce.1 AK097132 NM_005979 CCDS30874 Q99584 8985590 MGI:109581 RGD:1304919 601989 HGNC:10490 "ENST00000476133.6|NM_001024211.2" +HGNC:18901 S100A14 S100 calcium binding protein A14 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "S100A15|BCMP84" S100 calcium binding proteins 459 2002-10-30 2016-10-05 57402 ENSG00000189334 OTTHUMG00000035030 uc001fce.4 AY007220 NM_020672 CCDS1046 Q9HCY8 11944983 MGI:1913416 RGD:1595063 607986 HGNC:18901 "ENST00000344616.4|NM_020672.3" +HGNC:53871 S100A15A S100 calcium binding protein A15A (pseudogene) pseudogene pseudogene Approved 1q21.3 01q21.3 S100 calcium binding proteins 459 2018-05-02 2018-05-02 2021-08-19 112488748 ENSG00000224784 OTTHUMG00000013128 NG_066027 17642472 HGNC:53871 +HGNC:20441 S100A16 S100 calcium binding protein A16 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "S100F|DT1P1A7|MGC17528" "S100 calcium binding proteins|EF-hand domain containing" "459|863" 2003-10-28 2016-10-05 140576 ENSG00000188643 OTTHUMG00000013545 uc001fcd.2 BC010541 NM_080388 CCDS1045 Q96FQ6 9417904 MGI:1915110 RGD:1306770 617437 HGNC:20441 "ENST00000368706.9|NM_080388.3" +HGNC:10500 S100B S100 calcium binding protein B protein-coding gene gene with protein product Approved 21q22.3 21q22.3 S100beta S100 calcium binding protein, beta (neural) "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1988-06-27 2006-09-11 2014-11-18 6285 ENSG00000160307 OTTHUMG00000090715 uc002zju.2 M59488 NM_006272 CCDS13736 P04271 "2394738|1998503" MGI:98217 RGD:3615 176990 HGNC:10500 "ENST00000291700.9|NM_006272.3" +HGNC:1436 S100G S100 calcium binding protein G protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "CABP9K|CABP1" calbindin-D9K CALB3 calbindin 3, (vitamin D-dependent calcium-binding protein) "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1992-11-20 2004-10-07 2001-11-28 2020-09-17 795 ENSG00000169906 OTTHUMG00000021194 uc004cxn.2 NM_004057 CCDS14176 P29377 "1610358|1379540" MGI:104528 RGD:2253 302020 HGNC:1436 "ENST00000380200.3|NM_004057.3" +HGNC:10504 S100P S100 calcium binding protein P protein-coding gene gene with protein product Approved 4p16.1 04p16.1 S100 calcium-binding protein P "S100 calcium binding proteins|EF-hand domain containing" "459|863" 1993-10-04 2001-11-28 2016-10-05 6286 ENSG00000163993 OTTHUMG00000090491 uc003gjl.4 X65614 NM_005980 CCDS3391 P25815 "8341667|7759097" 600614 HGNC:10504 "ENST00000296370.4|NM_005980.3" +HGNC:25768 S100PBP S100P binding protein protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "FLJ12903|S100PBPR" S100P binding protein 1 2005-12-01 2019-03-19 64766 ENSG00000116497 OTTHUMG00000003955 uc001bwc.5 BX647916 NM_022753 CCDS30666 Q96BU1 22330678 MGI:1921898 RGD:1564943 611889 HGNC:25768 "ENST00000373475.10|NM_022753.4" +HGNC:30367 S100Z S100 calcium binding protein Z protein-coding gene gene with protein product Approved 5q13.3 05q13.3 "Gm625|S100-zeta" S100 calcium binding protein, zeta "S100 calcium binding proteins|EF-hand domain containing" "459|863" 2004-09-22 2006-09-11 2014-11-19 170591 ENSG00000171643 OTTHUMG00000162441 uc003keq.5 AF437876 NM_130772 CCDS43333 Q8WXG8 11747429 MGI:2685471 RGD:1562902 610103 HGNC:30367 "ENST00000317593.9|NM_130772.4" +HGNC:10513 SAA1 serum amyloid A1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "PIG4|TP53I4" SAA Receptor ligands 542 1988-01-18 2015-09-09 6288 ENSG00000173432 OTTHUMG00000166147 uc057zpu.1 M10906 NM_199161 CCDS7835 P0DJI8 "2595451|9305847" "MGI:98221|MGI:98222" 104750 330340 ligandId:6242 HGNC:10513 "ENST00000356524.9|NM_199161.5" +HGNC:10514 SAA2 serum amyloid A2 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 1992-06-12 2016-10-05 6289 ENSG00000134339 OTTHUMG00000166484 uc001mnz.5 M26152 NM_030754 "CCDS44548|CCDS7833" P0DJI9 7686132 "MGI:98221|MGI:98222" 104751 471022 HGNC:10514 "ENST00000256733.9|NM_030754.5" +HGNC:39550 SAA2-SAA4 SAA2-SAA4 readthrough other readthrough Approved 11p15.1 11p15.1 2011-02-21 2014-11-19 100528017 ENSG00000255071 OTTHUMG00000166482 uc021qel.2 NM_001199744.1 MGI:98224 HGNC:39550 +HGNC:10515 SAA3P serum amyloid A3, pseudogene pseudogene pseudogene Approved 11p15.1 11p15.1 SAA3 1992-06-12 2018-01-12 2018-01-12 6290 ENSG00000166787 OTTHUMG00000166433 S73444 NR_026576 "8325654|2558975" MGI:98223 PGOHUM00000257805 HGNC:10515 +HGNC:10516 SAA4 serum amyloid A4, constitutive protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "C-SAA|CSAA" 1992-06-12 2016-10-05 6291 ENSG00000148965 OTTHUMG00000166483 uc001mny.4 M81349 NM_006512 CCDS7832 P35542 8325654 MGI:98224 RGD:1307371 104752 471024 HGNC:10516 "ENST00000278222.7|NM_006512.4" +HGNC:25158 SAAL1 serum amyloid A like 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 FLJ41463 Armadillo like helical domain containing 1492 2005-10-28 2015-11-20 2015-11-20 113174 ENSG00000166788 OTTHUMG00000166428 uc001mnq.4 AK123457 NM_138421 CCDS31439 Q96ER3 MGI:1926185 RGD:1594860 HGNC:25158 "ENST00000524803.6|NM_138421.3" +HGNC:30179 SAC3D1 SAC3 domain containing 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HSU79266|SHD1" 2005-03-02 2014-11-19 29901 ENSG00000168061 OTTHUMG00000165594 uc001ocm.4 U79266 NM_013299 CCDS41668 A6NKF1 "8619474|9110174" MGI:1913656 RGD:1308049 618796 HGNC:30179 "ENST00000652489.1|NM_013299.4" +HGNC:17059 SACM1L SAC1 like phosphatidylinositide phosphatase protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SAC1|KIAA0851" SAC1 suppressor of actin mutations 1 like (yeast) Phosphoinositide phosphatases 1079 2002-01-10 2017-06-01 2017-06-01 22908 ENSG00000211456 OTTHUMG00000156653 uc003cos.3 AB020658 NM_014016 "CCDS82762|CCDS33745" Q9NTJ5 "10048485|11352561" MGI:1933169 RGD:69223 606569 HGNC:17059 "ENST00000389061.10|NM_014016.5" +HGNC:10519 SACS sacsin molecular chaperone protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "ARSACS|KIAA0730|DKFZp686B15167|DNAJC29|SPAX6|PPP1R138" protein phosphatase 1, regulatory subunit 138 spastic ataxia of Charlevoix-Saguenay (sacsin) "DNAJ (HSP40) heat shock proteins|Protein phosphatase 1 regulatory subunits" "584|694" 1999-11-19 2014-01-30 2016-10-05 26278 ENSG00000151835 OTTHUMG00000016562 uc001uon.3 AF193556 NM_014363 CCDS9300 Q9NZJ4 "10610707|15057823|21726565" MGI:1354724 RGD:1307281 604490 118445 HGNC:10519 "ENST00000382292.9|NM_014363.6" HGNC:10519 +HGNC:39835 SACS-AS1 SACS antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 SACS antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-30 2012-08-15 2014-11-19 100506680 ENSG00000229558 OTTHUMG00000016565 uc001uor.2 NR_103450 SACS-AS1 HGNC:39835 +HGNC:30660 SAE1 SUMO1 activating enzyme subunit 1 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "AOS1|FLJ3091|Sua1" activator Of sumo 1 Ubiquitin like modifier activating enzymes 100 2006-10-31 2020-04-01 10055 ENSG00000142230 OTTHUMG00000183464 uc002pgc.4 BC018271 NM_005500 "CCDS54285|CCDS54284|CCDS12696" Q9UBE0 "10187858|9920803|10217437" MGI:1929264 RGD:1306098 613294 HGNC:30660 "ENST00000270225.12|NM_005500.3" +HGNC:10520 SAFB scaffold attachment factor B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "HET|SAFB1" Hsp27 ERE-TATA binding protein RNA binding motif containing 725 1998-01-27 2016-01-15 6294 ENSG00000160633 OTTHUMG00000180502 uc002mcf.4 L43631 NM_001201338 "CCDS59340|CCDS12142|CCDS56077|CCDS59339" Q15424 "9605873|8600450" MGI:2146974 RGD:620613 602895 HGNC:10520 "ENST00000588852.2|NM_001201338.2" +HGNC:21605 SAFB2 scaffold attachment factor B2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 KIAA0138 RNA binding motif containing 725 2003-06-27 2019-08-20 9667 ENSG00000130254 OTTHUMG00000180374 uc002mcd.4 D50928 NM_014649 CCDS32879 Q14151 12660241 MGI:2146808 RGD:1588577 608066 HGNC:21605 "ENST00000252542.9|NM_014649.3" +HGNC:10521 SAG S-antigen visual arrestin protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "ARRESTIN|RP47" "arrestin 1|rod arrestin" S-antigen; retina and pineal gland (arrestin) Classical arrestins 1312 1989-09-19 2016-07-08 2016-07-08 6295 ENSG00000130561 OTTHUMG00000153213 uc002vuh.3 NM_000541 CCDS46545 P10523 2249983 MGI:98227 RGD:3619 Mutations of the Arrestin Gene|http://www.retina-international.org/files/sci-news/sagmut.htm 181031 118449 HGNC:10521 "ENST00000409110.6|NM_000541.5" HGNC:10521 +HGNC:30369 SAGE1 sarcoma antigen 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "SAGE|CT14" cancer/testis antigen 14 SAGE family 1847 2004-05-24 2020-04-02 55511 ENSG00000181433 OTTHUMG00000022496 uc065bgl.1 AJ278111 NM_018666 CCDS14652 Q9NXZ1 10919659 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SAGE1 300359 HGNC:30369 "ENST00000370709.4|NM_001381902.1" +HGNC:51337 SAGE2P sarcoma antigen 2, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 SAGE family 1847 2014-10-10 2014-10-10 644717 ENSG00000198022 OTTHUMG00000022487 NR_147090 A6NJ88 PGOHUM00000304870 HGNC:51337 +HGNC:51338 SAGE3P sarcoma antigen 3, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 SAGE family 1847 2014-10-10 2014-10-10 100419054 ENSG00000277486 OTTHUMG00000188050 NG_026767 PGOHUM00000304869 HGNC:51338 +HGNC:51339 SAGE4P sarcoma antigen 4, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 SAGE family 1847 2014-10-10 2014-10-10 442465 ENSG00000224539 OTTHUMG00000022486 PGOHUM00000305342 HGNC:51339 +HGNC:10524 SALL1 spalt like transcription factor 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "Hsal1|ZNF794" TBS "sal (Drosophila)-like 1|sal-like 1 (Drosophila)" Zinc fingers C2H2-type 28 1996-10-11 2016-05-23 2021-05-26 6299 ENSG00000103449 OTTHUMG00000133176 uc059ucs.1 X98833 NM_002968 "CCDS10747|CCDS45483" Q9NSC2 9425907 MGI:1889585 RGD:1309916 LRG_674|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_674.xml 602218 118451 HGNC:10524 "ENST00000251020.9|NM_002968.3" HGNC:10524 +HGNC:10525 SALL1P1 spalt like transcription factor 1 pseudogene 1 pseudogene pseudogene Approved Xp11.23 Xp11.23 SALL1P "sal (Drosophila)-like 1 pseudogene|sal-like 1 (Drosophila) pseudogene|sal-like 1 (Drosophila) pseudogene 1" 1999-07-19 2010-03-05 2016-05-23 2016-05-23 139163 ENSG00000227391 OTTHUMG00000024152 AJ010104 NG_009881 10343095 HGNC:10525 +HGNC:10526 SALL2 spalt like transcription factor 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA0360|Hsal2|ZNF795" "sal (Drosophila)-like 2|sal-like 2 (Drosophila)" Zinc fingers C2H2-type 28 1996-10-11 2016-05-23 2021-05-26 6297 ENSG00000165821 OTTHUMG00000168826 uc032atc.2 AB002358 NM_005407 "CCDS76656|CCDS32045" Q9Y467 8975705 MGI:1354373 RGD:1309272 602219 402736 HGNC:10526 "ENST00000537235.2|NM_001364564.1" HGNC:10526 +HGNC:10527 SALL3 spalt like transcription factor 3 protein-coding gene gene with protein product Approved 18q23 18q23 ZNF796 "sal (Drosophila)-like 3|sal-like 3 (Drosophila)" Zinc fingers C2H2-type 28 2000-01-20 2016-05-23 2021-04-27 27164 ENSG00000256463 OTTHUMG00000132896 uc002lmt.4 AJ007421 NM_171999 CCDS12013 Q9BXA9 10610715 MGI:109295 RGD:1310232 605079 HGNC:10527 "ENST00000537592.7|NM_171999.4" +HGNC:15924 SALL4 spalt like transcription factor 4 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "dJ1112F19.1|ZNF797" "sal (Drosophila)-like 4|sal-like 4 (Drosophila)" Zinc fingers C2H2-type 28 2001-06-21 2016-05-23 2021-05-26 57167 ENSG00000101115 OTTHUMG00000032752 uc002xwh.6 AK001666 NM_001318031 "CCDS13438|CCDS82629" Q9UJQ4 MGI:2139360 RGD:1597672 LRG_675|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_675.xml SALL4 607343 118456 HGNC:15924 "ENST00000217086.9|NM_020436.5" HGNC:15924 +HGNC:39818 SALL4P1 spalt like transcription factor 4 pseudogene 1 pseudogene pseudogene Approved 5q11.2 05q11.2 sal-like 4 (Drosophila) pseudogene 1 2011-03-30 2016-05-23 2016-05-23 100419717 ENSG00000250308 OTTHUMG00000162322 NG_024673 PGOHUM00000235597 HGNC:39818 +HGNC:39819 SALL4P2 spalt like transcription factor 4 pseudogene 2 pseudogene pseudogene Approved Xq26.1 Xq26.1 sal-like 4 (Drosophila) pseudogene 2 2011-03-30 2016-05-23 2016-05-23 100130259 ENSG00000238040 OTTHUMG00000022376 NG_022702 PGOHUM00000242007 HGNC:39819 +HGNC:39820 SALL4P3 spalt like transcription factor 4 pseudogene 3 pseudogene pseudogene Approved 16p12.3 16p12.3 sal-like 4 (Drosophila) pseudogene 3 2011-03-30 2016-05-23 2016-05-23 100131046 NG_022510 PGOHUM00000249005 HGNC:39820 +HGNC:39821 SALL4P4 spalt like transcription factor 4 pseudogene 4 pseudogene pseudogene Approved 13q34 13q34 sal-like 4 (Drosophila) pseudogene 4 2011-03-30 2016-05-23 2016-05-24 100419855 NG_024884 PGOHUM00000248494 HGNC:39821 +HGNC:39822 SALL4P5 spalt like transcription factor 4 pseudogene 5 pseudogene pseudogene Approved 3p24.3 03p24.3 sal-like 4 (Drosophila) pseudogene 5 2011-03-30 2016-05-24 2016-05-24 100130785 ENSG00000231915 OTTHUMG00000155607 NG_022241 PGOHUM00000237959 HGNC:39822 +HGNC:39823 SALL4P6 spalt like transcription factor 4 pseudogene 6 pseudogene pseudogene Approved 3p22.1 03p22.1 sal-like 4 (Drosophila) pseudogene 6 2011-03-30 2016-05-24 2016-05-24 391530 ENSG00000231280 OTTHUMG00000156186 NG_022248 PGOHUM00000238008 HGNC:39823 +HGNC:43900 SALL4P7 spalt like transcription factor 4 pseudogene 7 pseudogene pseudogene Approved 14q23.1 14q23.1 sal-like 4 (Drosophila) pseudogene 7 2012-04-27 2016-05-24 2016-05-24 390483 ENSG00000258692 OTTHUMG00000171186 NG_022841 PGOHUM00000247817 HGNC:43900 +HGNC:49001 SALRNA1 senescence associated long non-coding RNA 1 non-coding RNA RNA, long non-coding Approved 14q23.1 14q23.1 "SAL-RNA1|XLOC_023166" Long non-coding RNAs with non-systematic symbols 1992 2013-07-27 2016-11-24 104548971 ENSG00000258952 OTTHUMG00000171189 NR_126480 23758631 sal-rna1 HGNC:49001 +HGNC:49003 SALRNA2 senescence associated long non-coding RNA 2 non-coding RNA RNA, long non-coding Approved 15q23 15q23 "SAL-RNA2|XLOC_025931" Long non-coding RNAs with non-systematic symbols 1992 2013-07-27 2018-02-07 104548973 ENSG00000280515 OTTHUMG00000189722 NR_126482 23758631 HGNC:49003 +HGNC:49002 SALRNA3 senescence associated long non-coding RNA 3 non-coding RNA RNA, long non-coding Approved 15q23 15q23 "SAL-RNA3|XLOC_025918" Long non-coding RNAs with non-systematic symbols 1992 2013-07-27 2018-02-07 104548972 ENSG00000281264 OTTHUMG00000189721 NR_126481 23758631 HGNC:49002 +HGNC:17958 SAMD1 sterile alpha motif domain containing 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 Sterile alpha motif domain containing 760 2002-01-10 2016-10-05 90378 ENSG00000141858 OTTHUMG00000166628 uc060ulq.1 BC007384 NM_138352 Q6SPF0 MGI:2142433 RGD:7529921 HGNC:17958 +HGNC:21574 SAMD3 sterile alpha motif domain containing 3 protein-coding gene gene with protein product Approved 6q23.1 06q23.1 "bA73O6.2|FLJ34032" Sterile alpha motif domain containing 760 2003-11-26 2015-08-25 154075 ENSG00000164483 OTTHUMG00000015556 uc003qbx.5 AK091351 NM_152552 "CCDS64525|CCDS34539" Q8N6K7 MGI:2685469 RGD:1587834 HGNC:21574 "ENST00000439090.7|NM_001017373.4" +HGNC:23023 SAMD4A sterile alpha motif domain containing 4A protein-coding gene gene with protein product Approved 14q22.2 14q22.2 "KIAA1053|DKFZP434H0350|Smaug|SMG|SMGA|hSmaug1" smaug homolog (Drosophila) SAMD4 sterile alpha motif domain containing 4 "Sterile alpha motif domain containing|Armadillo like helical domain containing" "760|1492" 2003-09-01 2006-01-27 2006-01-27 2016-04-25 23034 ENSG00000020577 OTTHUMG00000170999 uc001xbb.4 AB028976 NM_015589 "CCDS55918|CCDS55917|CCDS32084" Q9UPU9 16221671 MGI:1921730 RGD:1310361 610747 HGNC:23023 "ENST00000554335.6|NM_015589.6" +HGNC:54803 SAMD4A-AS1 SAMD4A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q22.2 14q22.2 lnc-GCH1-2:3 Antisense RNAs 1987 2021-12-10 2021-12-10 729451 ENSG00000285774 XR_429363 31838253 +HGNC:25492 SAMD4B sterile alpha motif domain containing 4B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ10211|MGC99832|SMGB|hSmaug2" smaug homolog B (Drosophila) "Sterile alpha motif domain containing|Armadillo like helical domain containing" "760|1492" 2006-01-27 2019-08-20 55095 ENSG00000179134 OTTHUMG00000182967 uc002olb.4 NM_018028 "CCDS33020|CCDS77295" Q5PRF9 16221671 MGI:2448542 RGD:1305597 619231 HGNC:25492 "ENST00000610417.5|NM_001384574.2" +HGNC:21180 SAMD5 sterile alpha motif domain containing 5 protein-coding gene gene with protein product Approved 6q24.3 06q24.3 dJ875H10.1 Sterile alpha motif domain containing 760 2003-11-27 2014-11-19 389432 ENSG00000203727 OTTHUMG00000015767 uc003qmc.3 AL354880 NM_001030060 CCDS34548 Q5TGI4 MGI:2444815 RGD:1311012 HGNC:21180 "ENST00000367474.2|NM_001030060.3" +HGNC:25394 SAMD7 sterile alpha motif domain containing 7 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 DKFZp686E1583 Sterile alpha motif domain containing 760 2003-12-19 2016-10-05 344658 ENSG00000187033 OTTHUMG00000158730 uc003fgd.4 BX537903 NM_182610 CCDS3209 Q7Z3H4 MGI:1923203 RGD:1308931 HGNC:25394 "ENST00000335556.7|NM_001304366.2" +HGNC:26320 SAMD8 sterile alpha motif domain containing 8 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "FLJ25082|SMSr" "sphingomyelin synthase related|ceramide phosphoethanolamine synthase" Sterile alpha motif domain containing 760 2003-12-19 2016-10-05 142891 ENSG00000156671 OTTHUMG00000018515 uc001jwx.2 AK057811 NM_144660 "CCDS53543|CCDS7347" Q96LT4 24259670 MGI:1914880 RGD:1306447 611575 objectId:2525 2.7.8.n3 HGNC:26320 "ENST00000542569.6|NM_001174156.2" +HGNC:1348 SAMD9 sterile alpha motif domain containing 9 protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "KIAA2004|FLJ20073" C7orf5 chromosome 7 open reading frame 5 Sterile alpha motif domain containing 760 2001-06-22 2004-07-16 2004-07-15 2021-05-26 54809 ENSG00000205413 OTTHUMG00000155809 uc003umg.3 AB095925 NM_017654 CCDS34680 Q5K651 27182967 RGD:1563091 610456 118460 HGNC:1348 "ENST00000379958.3|NM_017654.4" HGNC:1348 +HGNC:1349 SAMD9L sterile alpha motif domain containing 9 like protein-coding gene gene with protein product Approved 7q21.2 07q21.2 "KIAA2005|FLJ39885" C7orf6 "chromosome 7 open reading frame 6|sterile alpha motif domain containing 9-like" Sterile alpha motif domain containing 760 1999-03-10 2005-04-26 2016-03-15 2021-05-26 219285 ENSG00000177409 OTTHUMG00000155807 uc003umh.2 AB095926 NM_152703 CCDS34681 Q8IVG5 MGI:1343184 611170 461215 HGNC:1349 "ENST00000318238.9|NM_152703.5" HGNC:1349 +HGNC:16129 SAMD10 sterile alpha motif domain containing 10 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 C20orf136 chromosome 20 open reading frame 136 Sterile alpha motif domain containing 760 2001-07-17 2004-07-16 2004-07-15 2014-11-19 140700 ENSG00000130590 OTTHUMG00000033011 uc002yhm.2 NM_080621 CCDS13549 Q9BYL1 MGI:2443872 RGD:1563203 HGNC:16129 "ENST00000369886.8|NM_080621.5" +HGNC:28706 SAMD11 sterile alpha motif domain containing 11 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 MGC45873 Sterile alpha motif domain containing 760 2004-07-15 2019-03-19 148398 ENSG00000187634 OTTHUMG00000040719 uc001abw.2 BC024295 NM_152486 CCDS2 Q96NU1 27734943 MGI:2446220 RGD:1310271 616765 HGNC:28706 "ENST00000616016.5|NM_001385641.1" HGNC:28706 +HGNC:44473 SAMD11P1 sterile alpha motif domain containing 11 pseudogene 1 pseudogene pseudogene Approved 17p13.3 17p13.3 2012-11-02 2012-11-02 100421331 ENSG00000262480 OTTHUMG00000177803 NG_009799 PGOHUM00000236902 HGNC:44473 +HGNC:31750 SAMD12 sterile alpha motif domain containing 12 protein-coding gene gene with protein product Approved 8q24.11-q24.12 08q24.11-q24.12 FLJ39458 Sterile alpha motif domain containing 760 2004-07-15 2018-02-13 401474 ENSG00000177570 OTTHUMG00000059817 uc010mda.2 AK096777 NM_207506 "CCDS47913|CCDS6325" Q8N8I0 MGI:2444518 RGD:1561402 618073 HGNC:31750 "ENST00000314727.9|NM_207506.3" HGNC:31750 +HGNC:30937 SAMD12-AS1 SAMD12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.12 08q24.12 "C8orf26|NCRNA00252" "chromosome 8 open reading frame 26|non-protein coding RNA 252|SAMD12 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-04-27 2011-08-11 2012-08-15 2019-08-14 552860 ENSG00000281641 OTTHUMG00000189550 uc022bae.2 BE069098 NR_038210 31406141 HGNC:30937 +HGNC:24582 SAMD13 sterile alpha motif domain containing 13 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 Sterile alpha motif domain containing 760 2005-08-01 2015-09-02 148418 ENSG00000203943 OTTHUMG00000009859 uc001djr.3 NM_001010971 "CCDS44166|CCDS30760" Q5VXD3 MGI:2686498 RGD:708544 HGNC:24582 "ENST00000394834.8|NM_001134663.2" +HGNC:27312 SAMD14 sterile alpha motif domain containing 14 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 FLJ36890 Sterile alpha motif domain containing 760 2005-12-13 2020-04-01 201191 ENSG00000167100 OTTHUMG00000161992 uc002iqf.5 NM_174920 "CCDS58562|CCDS11560" Q8IZD0 8619474 MGI:2384945 RGD:1306138 619233 HGNC:27312 "ENST00000330175.9|NM_001257359.2" +HGNC:18631 SAMD15 sterile alpha motif domain containing 15 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FLJ35963 "FAM15A|C14orf174" "family with sequence similarity 15, member A|chromosome 14 open reading frame 174" Sterile alpha motif domain containing 760 2003-01-10 2010-10-20 2010-10-20 2020-04-20 161394 ENSG00000100583 OTTHUMG00000167428 uc001xtq.2 AK093282 NM_001010860 CCDS32126 Q9P1V8 MGI:2685109 RGD:1589368 HGNC:18631 "ENST00000216471.5|NM_001010860.4" +HGNC:15925 SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "SBBI88|Mg11|HDDC1|MOP-5|AGS5" "HD domain containing 1|monocyte protein 5|Aicardi-Goutieres syndrome 5" SAM domain and HD domain 1 Sterile alpha motif domain containing 760 2001-07-31 2016-05-03 2021-05-26 25939 ENSG00000101347 OTTHUMG00000032402 uc002xgh.3 AF228421 NM_015474 "CCDS86953|CCDS13288|CCDS86954" Q9Y3Z3 "11064105|11230166|22056990" MGI:1927468 RGD:1308369 LRG_281|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_281.xml 606754 201570 3.1.5.- HGNC:15925 "ENST00000646673.2|NM_015474.4" HGNC:15925 +HGNC:24276 SAMM50 SAMM50 sorting and assembly machinery component protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "CGI-51|TRG-3|YNL026W|OMP85|TOB55|SAM50" sorting and assembly machinery component 50 homolog (S. cerevisiae) Mitochondrial sorting and assembly machinery complex 1685 2005-05-31 2005-11-20 2013-08-21 2016-07-04 25813 ENSG00000100347 OTTHUMG00000150557 uc003bej.4 AK001087 NM_015380 CCDS14055 Q9Y512 15644312 MGI:1915903 RGD:1303219 612058 HGNC:24276 "ENST00000350028.5|NM_015380.5" +HGNC:49778 SAMM50P1 SAMM50 sorting and assembly machinery component pseudogene 1 pseudogene pseudogene Approved 9p22.2 09p22.2 2014-02-14 2014-02-14 100271893 ENSG00000224488 OTTHUMG00000019598 NG_011613 PGOHUM00000235976 HGNC:49778 +HGNC:49644 SAMMSON survival associated mitochondrial melanoma specific oncogenic non-coding RNA non-coding RNA RNA, long non-coding Approved 3p13 03p13 LINC01212 long intergenic non-protein coding RNA 1212 Long non-coding RNAs with non-systematic symbols 1992 2014-01-28 2016-03-29 2016-04-08 2016-04-08 101927152 ENSG00000240405 OTTHUMG00000159017 NR_110000 27008969 616895 SAMMSON HGNC:49644 +HGNC:10528 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 protein-coding gene gene with protein product Approved 21q11.2 21q11.2 "NASH1|SASH2|SH3D6B|HACS1|SLy2" "nuclear localization signals, SAM and SH3 domain containing 1|SAM and SH3 domain containing 2|hematopoietic adapter-containing SH3 and sterile α-motif (SAM) domains 1|Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2" "SAM and SH3 domain containing|Sterile alpha motif domain containing" "731|760" 2000-02-22 2006-12-13 2018-04-18 64092 ENSG00000155307 OTTHUMG00000074317 uc002yju.3 AF222927 NM_001256370 "CCDS58786|CCDS74774|CCDS42906" Q9NSI8 "11536050|11594764" MGI:1914992 RGD:620926 607978 HGNC:10528 "ENST00000400566.6|NM_022136.5" +HGNC:39599 SAMSN1-AS1 SAMSN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q11.2 21q11.2 SAMSN1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-17 2012-08-15 2012-10-12 100874190 ENSG00000223662 OTTHUMG00000074321 uc031ruw.1 NR_046512 SAMSN1-AS1 HGNC:39599 +HGNC:29387 SANBR SANT and BTB domain regulator of CSR protein-coding gene gene with protein product Approved 2p15 02p15 KIAA1841 KIAA1841 2006-03-23 2021-03-22 2021-03-22 2021-04-12 84542 ENSG00000162929 OTTHUMG00000187089 uc002saw.5 BC070104 NM_032506 "CCDS46296|CCDS1867|CCDS82456" Q6NSI8 "11347906|33831416" MGI:1918925 RGD:1305110 HGNC:29387 "ENST00000402291.6|NM_001129993.3" +HGNC:10530 SAP18 Sin3A associated protein 18 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "SAP18p|2HOR0202|MGC27131" sin3A-associated protein, 18kDa "ASAP complex|SIN3 histone deacetylase complex subunits|Spliceosomal Bact complex|Spliceosomal C complex" "1236|1306|1508|1510" 1998-09-21 2016-06-01 2016-06-01 10284 ENSG00000150459 OTTHUMG00000016535 uc058vuw.1 U96915 NM_005870 CCDS9295 O00422 9150135 MGI:1277978 RGD:1310388 602949 HGNC:10530 +HGNC:51567 SAP18P1 SAP18 pseudogene 1 pseudogene pseudogene Approved 5q13.3 05q13.3 2015-03-10 2015-03-10 106480689 ENSG00000249777 OTTHUMG00000162385 NG_043321 PGOHUM00000301017 HGNC:51567 +HGNC:51568 SAP18P2 SAP18 pseudogene 2 pseudogene pseudogene Approved 2q31.3 02q31.3 2015-03-10 2015-03-10 442060 ENSG00000223873 OTTHUMG00000154313 NG_005501 PGOHUM00000298807 HGNC:51568 +HGNC:51569 SAP18P3 SAP18 pseudogene 3 pseudogene pseudogene Approved 3p24.3 03p24.3 2015-03-10 2015-03-10 106660616 ENSG00000230697 OTTHUMG00000155392 NG_044939 PGOHUM00000298967 HGNC:51569 +HGNC:41908 SAP25 Sin3A associated protein 25 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ00248 Sin3A-associated protein, 25kDa 2011-05-19 2016-06-01 2016-10-25 100316904 ENSG00000205307 OTTHUMG00000187472 uc022aip.2 NM_001168682 "CCDS55137|CCDS87529" Q8TEE9 16449650 MGI:3802945 RGD:1562406 619230 HGNC:41908 "ENST00000622764.3|NM_001348680.2" +HGNC:10532 SAP30 Sin3A associated protein 30 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 sin3A-associated protein, 30kDa SIN3 histone deacetylase complex subunits 1306 1999-06-07 2016-06-01 2016-06-01 8819 ENSG00000164105 OTTHUMG00000160798 uc003itd.4 AF055993 NM_003864 CCDS3817 O75446 9651585 MGI:1929129 RGD:1595501 603378 HGNC:10532 "ENST00000296504.4|NM_003864.4" +HGNC:54424 SAP30-DT SAP30 divergent transcript non-coding RNA RNA, long non-coding Approved 4q34.1 04q34.1 ENST00000608794 Divergent transcripts 1990 2019-07-24 2022-03-23 105377540 ENSG00000272870 XR_007058364 31330194 HGNC:54424 +HGNC:30785 SAP30BP SAP30 binding protein protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "HCNGP|HTRG|HTRP" 2006-01-05 2020-04-01 29115 ENSG00000161526 OTTHUMG00000179798 uc002jpe.4 AY082382 NM_013260 "CCDS77115|CCDS11726" Q9UHR5 15496587 MGI:1927479 RGD:1565537 610218 HGNC:30785 "ENST00000584667.6|NM_013260.8" +HGNC:25663 SAP30L SAP30 like protein-coding gene gene with protein product Approved 5q33.2 05q33.2 "FLJ11526|NS4ATP2" 2006-03-24 2016-07-12 2016-07-12 79685 ENSG00000164576 OTTHUMG00000130146 uc003lvk.4 AY341060 NM_024632 "CCDS47321|CCDS4326|CCDS47322" Q9HAJ7 "14680513|16820529" MGI:1354709 RGD:1309585 610398 HGNC:25663 "ENST00000297109.11|NM_024632.6" +HGNC:26760 SAP30L-AS1 SAP30L antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 5q33.2 05q33.2 "FLJ38109|GALNT10-AS1" GALNT10 antisense RNA 1 Antisense RNAs 1987 2013-06-04 2013-06-04 2021-06-07 386627 ENSG00000245275 OTTHUMG00000163570 NR_037897 30599235 SAP30L-AS1 HGNC:26760 +HGNC:29813 SAP130 Sin3A associated protein 130 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 FLJ12761 sin3A-associated protein, 130kDa 2006-02-02 2016-06-01 2016-06-01 79595 ENSG00000136715 OTTHUMG00000131571 uc002tpp.3 BC017453 NM_024545 "CCDS86881|CCDS82510|CCDS2153|CCDS54397" Q9H0E3 "11230166|12724404" MGI:1919782 RGD:1311657 609697 HGNC:29813 "ENST00000643581.2|NM_001330301.2" +HGNC:13938 SAPCD1 suppressor APC domain containing 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 NG23 C6orf26 chromosome 6 open reading frame 26 2002-04-05 2011-12-13 2011-12-13 2016-10-05 401251 ENSG00000228727 OTTHUMG00000031131 uc063vnx.1 NM_001039651 CCDS34411 Q5SSQ6 MGI:2388100 RGD:1359359 HGNC:13938 +HGNC:39824 SAPCD1-AS1 SAPCD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 C6orf26-AS1 "C6orf26 antisense RNA 1 (non-protein coding)|SAPCD1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2011-04-21 2011-12-13 2012-08-15 2012-10-12 104413891 ENSG00000235663 OTTHUMG00000137389 uc063vob.1 NR_126423 SAPCD1-AS1 HGNC:39824 +HGNC:28055 SAPCD2 suppressor APC domain containing 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 p42.3 C9orf140 chromosome 9 open reading frame 140 2004-04-16 2012-02-08 2012-02-08 2019-03-19 89958 ENSG00000186193 OTTHUMG00000020961 uc011men.3 BC024299 NM_178448 CCDS7027 Q86UD0 26766442 MGI:1919330 RGD:1590629 612057 HGNC:28055 "ENST00000409687.5|NM_178448.4" +HGNC:51277 SAPCD2P1 suppressor APC domain containing 2 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2014-08-27 2014-08-27 442320 ENSG00000213644 OTTHUMG00000156472 NG_022563 PGOHUM00000302731 HGNC:51277 +HGNC:51278 SAPCD2P2 suppressor APC domain containing 2 pseudogene 2 pseudogene pseudogene Approved 7p11.2 07p11.2 2014-08-27 2014-08-27 442317 ENSG00000235368 OTTHUMG00000156686 NG_022559 PGOHUM00000302681 HGNC:51278 +HGNC:51279 SAPCD2P3 suppressor APC domain containing 2 pseudogene 3 pseudogene pseudogene Approved 7q11.21 07q11.21 2014-08-27 2014-08-27 643353 ENSG00000232491 OTTHUMG00000156755 NG_009402 PGOHUM00000302776 HGNC:51279 +HGNC:51280 SAPCD2P4 suppressor APC domain containing 2 pseudogene 4 pseudogene pseudogene Approved 7q11.21 07q11.21 2014-08-27 2014-08-27 442318 ENSG00000234312 OTTHUMG00000156271 NG_022538 HGNC:51280 +HGNC:10534 SAR1A secretion associated Ras related GTPase 1A protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "SAR1|Sara" SARA1 "SAR1a gene homolog (S. cerevisiae) 1|SAR1a gene homolog 1 (S. cerevisiae)|SAR1 homolog A (S. cerevisiae)|secretion associated, Ras related GTPase 1A" "ARF GTPase family|COPII coat complex" "357|1960" 2000-06-28 2005-10-21 2016-01-28 2020-06-19 56681 ENSG00000079332 OTTHUMG00000018400 uc010qjh.3 NM_001142648 CCDS7298 Q9NR31 "10871277|32358066" MGI:98230 RGD:1359540 607691 HGNC:10534 "ENST00000373241.9|NM_020150.5" +HGNC:13983 SAR1AP1 secretion associated Ras related GTPase 1A pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "hsSARA-p|SARAP1|dJ88J8.3" "SARAP|SAR1P1" "SAR1a gene homolog (S. cerevisiae) pseudogene|SAR1 homolog (S. cerevisiae) pseudogene 1|SAR1 homolog A (S. cerevisiae) pseudogene 1" 2003-11-27 2009-12-02 2016-01-28 2017-10-25 646260 ENSG00000228364 OTTHUMG00000031279 AL035402 NG_009576 PGOHUM00000301298 HGNC:13983 +HGNC:20770 SAR1AP2 secretion associated Ras related GTPase 1A pseudogene 2 pseudogene pseudogene Approved 10q26.2 10q26.2 "Em:AC026226.2|SARA1P" SAR1P2 "SAR1 homolog (S. cerevisiae) pseudogene 2|SAR1 homolog A (S. cerevisiae) pseudogene 2" 2005-10-21 2009-12-02 2016-01-28 2016-08-17 641312 ENSG00000213170 OTTHUMG00000019242 AC026226 NG_029050 PGOHUM00000290314 HGNC:20770 +HGNC:32317 SAR1AP3 secretion associated Ras related GTPase 1A pseudogene 3 pseudogene pseudogene Approved 4q27 04q27 SAR1P3 "SAR1 homolog (S. cerevisiae) pseudogene 3|SAR1 homolog A (S. cerevisiae) pseudogene 3" 2005-11-08 2009-12-02 2016-01-28 2017-10-25 344988 ENSG00000225665 OTTHUMG00000161123 XM_293671 PGOHUM00000300358 HGNC:32317 +HGNC:37638 SAR1AP4 secretion associated Ras related GTPase 1A pseudogene 4 pseudogene pseudogene Approved Xq13.3 Xq13.3 SAR1 homolog A (S. cerevisiae) pseudogene 4 2009-12-02 2016-01-28 2017-10-25 100132322 ENSG00000233063 OTTHUMG00000021873 NG_016180 PGOHUM00000305161 HGNC:37638 +HGNC:10535 SAR1B secretion associated Ras related GTPase 1B protein-coding gene gene with protein product Approved 5q31.1 05q31.1 SARA2 "SAR1a gene homolog (S. cerevisiae) 2|SAR1a gene homolog 2 (S. cerevisiae)|SAR1 homolog B (S. cerevisiae)|secretion associated, Ras related GTPase 1B" "ARF GTPase family|COPII coat complex" "357|1960" 2000-06-28 2005-10-21 2016-01-28 2021-05-26 51128 ENSG00000152700 OTTHUMG00000129114 uc003kzr.4 AF092130 NM_016103 CCDS4177 Q9Y6B6 32358066 MGI:1913647 RGD:1305590 607690 118465 HGNC:10535 "ENST00000402673.7|NM_016103.4" HGNC:10535 +HGNC:28789 SARAF store-operated calcium entry associated regulatory factor protein-coding gene gene with protein product Approved 8p12 08p12 MGC8721 SOCE-associated regulatory factor TMEM66 transmembrane protein 66 2005-07-29 2014-06-25 2016-05-04 2016-05-04 51669 ENSG00000133872 OTTHUMG00000133397 AY359104 NM_016127 "CCDS6074|CCDS64866" Q96BY9 "11042152|22464749|23816623" MGI:1915137 RGD:1303011 614768 HGNC:28789 "ENST00000256255.11|NM_016127.6" +HGNC:10536 SARDH sarcosine dehydrogenase protein-coding gene gene with protein product Approved 9q34.2 09q34.2 SDH DMGDHL1 1998-03-02 2021-05-26 1757 ENSG00000123453 OTTHUMG00000020879 uc004ceo.4 NM_001134707 CCDS6978 Q9UL12 10444331 MGI:2183102 RGD:621125 604455 118468 1.5.8.3 HGNC:10536 "ENST00000439388.6|NM_001134707.2" HGNC:10536 +HGNC:17074 SARM1 sterile alpha and TIR motif containing 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "SARM|SAMD2|KIAA0524" "Sterile alpha motif domain containing|TIR domain containing|Armadillo like helical domain containing" "760|1296|1492" 2003-05-14 2016-10-05 23098 ENSG00000004139 OTTHUMG00000132499 uc032ezg.2 AB011096 NM_015077 CCDS11230 Q6SZW1 9628581 MGI:2136419 RGD:1310078 607732 HGNC:17074 "ENST00000585482.6|NM_015077.4" +HGNC:24432 SARNP SAP domain containing ribonucleoprotein protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "THO1|Hcc-1|CIP29" "hepatocellular carcinoma 1|cytokine induced protein 29 kDa" Transcription and export complex 1 subunits 1348 2009-04-22 2016-11-10 84324 ENSG00000205323 OTTHUMG00000170441 uc001sht.4 AJ409089 NM_033082 CCDS8892 P82979 "11356193|11922608" MGI:1913368 RGD:1305692 610049 HGNC:24432 "ENST00000336133.8|NM_033082.4" +HGNC:10537 SARS1 seryl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 SERS serine tRNA ligase 1, cytoplasmic SARS seryl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 1995-06-09 2019-07-15 2019-07-15 2019-07-15 6301 ENSG00000031698 OTTHUMG00000011726 uc001dwu.3 BC009390 NM_006513 "CCDS81356|CCDS795" P49591 9431993 MGI:102809 RGD:628813 607529 6.1.1.11 HGNC:10537 "ENST00000234677.7|NM_006513.4" HGNC:10537 +HGNC:17697 SARS2 seryl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ20450|mtSerRS|SerRSmt|SARS|SERS|SYS" serine tRNA ligase 2, mitochondrial SARSM "serine-tRNA ligase, mitochondrial|seryl-tRNA synthetase 2" Aminoacyl tRNA synthetases, Class II 132 2002-10-09 2007-02-23 2021-05-26 54938 ENSG00000104835 OTTHUMG00000182691 uc002oka.3 AB029948 NM_017827 "CCDS33017|CCDS54265" Q9NP81 10764807 MGI:1919234 RGD:1309456 612804 365159 6.1.1.11 HGNC:17697 "ENST00000221431.11|NM_017827.4" HGNC:17697 +HGNC:10538 SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "Ara1|Snu66|SNRNP110|HAF" "small nuclear ribonucleoprotein 110kDa (U4/U6.U5)|hypoxia associated factor" "squamous cell carcinoma antigen recognised by T cells|squamous cell carcinoma antigen recognized by T cells 1|squamous cell carcinoma antigen recognized by T-cells 1|SART1, U4/U6.U5 tri-snRNP-associated protein 1" tri-snRP complex 1506 1999-01-29 2018-08-09 2018-08-09 9092 ENSG00000175467 OTTHUMG00000166771 uc001ogl.4 AB006198 NM_005146 CCDS31611 O43290 9449708 MGI:1309453 RGD:61930 605941 HGNC:10538 "ENST00000312397.10|NM_005146.5" +HGNC:16860 SART3 spliceosome associated factor 3, U4/U6 recycling protein protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "KIAA0156|RP11-13G14|TIP110|p110" "HIV-1 Tat-interacting protein of 110kDa|PRP24 homolog" "squamous cell carcinoma antigen recognized by T-cells 3|squamous cell carcinoma antigen recognized by T cells 3" RNA binding motif containing 725 2001-12-17 2018-08-09 2021-04-13 9733 ENSG00000075856 OTTHUMG00000169449 uc001tmz.2 AB020880 NM_014706 CCDS9117 Q15020 "12032085|15840095|20595234" MGI:1858230 RGD:1311646 LRG_1285|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1285.xml 611684 HGNC:16860 "ENST00000546815.6|NM_014706.4" HGNC:16860 +HGNC:19182 SASH1 SAM and SH3 domain containing 1 protein-coding gene gene with protein product Approved 6q24.3-q25.1 06q24.3-q25.1 "KIAA0790|dJ323M4.1|SH3D6A" "SAM and SH3 domain containing|Sterile alpha motif domain containing" "731|760" 2003-11-27 2021-05-26 23328 ENSG00000111961 OTTHUMG00000015773 uc003qme.2 AB018333 NM_015278 CCDS5212 O94885 "9872452|12771949" MGI:1917347 RGD:1566017 607955 448465 HGNC:19182 "ENST00000367467.8|NM_015278.5" HGNC:19182 +HGNC:15975 SASH3 SAM and SH3 domain containing 3 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "SLY|753P9|SH3D6C|HACS2" CXorf9 chromosome X open reading frame 9 "SAM and SH3 domain containing|Sterile alpha motif domain containing" "731|760" 2001-07-18 2008-02-18 2008-02-18 2020-04-02 54440 ENSG00000122122 OTTHUMG00000022372 uc004euu.4 BC051881 NM_018990 CCDS14614 O75995 11470164 MGI:1921381 RGD:1560293 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SASH3 300441 HGNC:15975 "ENST00000356892.4|NM_018990.4" +HGNC:25403 SASS6 SAS-6 centriolar assembly protein protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "DKFZp761A078|SAS-6|FLJ22097|SAS6" spindle assembly 6 homolog (C. elegans) 2005-10-13 2015-06-19 2016-10-05 163786 ENSG00000156876 OTTHUMG00000010754 uc001dsu.4 AL834265 NM_194292 CCDS764 Q6UVJ0 "15665853|14654843" MGI:1920026 RGD:1306255 609321 419331 HGNC:25403 "ENST00000287482.6|NM_194292.3" HGNC:25403 +HGNC:10540 SAT1 spermidine/spermine N1-acetyltransferase 1 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 SSAT diamine N-acetyltransferase 1 SAT spermidine/spermine N1-acetyltransferase GCN5 related N-acetyltransferases 1134 1991-09-18 2006-08-24 2006-08-24 2016-10-05 6303 ENSG00000130066 OTTHUMG00000021256 uc004dau.5 M55580 NM_002970 CCDS14207 P21673 "1985966|1417826" MGI:98233 RGD:1586174 313020 412573 2.3.1.57 HGNC:10540 "ENST00000379270.5|NM_002970.4" +HGNC:23160 SAT2 spermidine/spermine N1-acetyltransferase family member 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 SSAT2 diamine N-acetyltransferase 2 spermidine/spermine N1-acetyltransferase 2 GCN5 related N-acetyltransferases 1134 2003-09-26 2008-01-07 2016-10-05 112483 ENSG00000141504 OTTHUMG00000108152 uc002gic.3 AF348524 NM_133491 "CCDS11116|CCDS82055" Q96F10 "15283699|17558023" MGI:1916465 RGD:1307869 611463 2.3.1.57 HGNC:23160 "ENST00000269298.10|NM_133491.5" +HGNC:10541 SATB1 SATB homeobox 1 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA) CUT class homeoboxes and pseudogenes 527 1994-05-03 2007-02-15 2015-10-08 6304 ENSG00000182568 OTTHUMG00000129890 uc003cbj.4 NM_001131010 "CCDS2631|CCDS56242" Q01826 1505028 MGI:105084 RGD:1305561 602075 8507 HGNC:10541 "ENST00000338745.11|NM_002971.6" HGNC:10541 +HGNC:50687 SATB1-AS1 SATB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 Antisense RNAs 1987 2014-06-05 2021-07-28 101927777 ENSG00000228956 OTTHUMG00000155346 DR006704 NR_125803 SATB1-AS1 HGNC:50687 +HGNC:21637 SATB2 SATB homeobox 2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "KIAA1034|FLJ21474" SATB family member 2 CUT class homeoboxes and pseudogenes 527 2003-07-08 2007-02-15 2021-05-26 23314 ENSG00000119042 OTTHUMG00000132767 uc002uuz.3 AB028957 NM_015265 CCDS2327 Q9UPW6 MGI:2679336 RGD:1562369 608148 8508 138514 HGNC:21637 "ENST00000417098.6|NM_001172509.2" HGNC:21637 +HGNC:26490 SATB2-AS1 SATB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q33.1 02q33.1 SATB2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2017-02-15 150538 ENSG00000225953 OTTHUMG00000154470 uc061rbe.1 NR_026830 28190168 SATB2-AS1 HGNC:26490 +HGNC:27992 SATL1 spermidine/spermine N1-acetyl transferase like 1 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 GCN5 related N-acetyltransferases 1134 2004-06-08 2017-05-12 2020-04-02 340562 ENSG00000184788 OTTHUMG00000021931 uc065adu.1 BC043215 NM_001012980 CCDS35343 Q86VE3 12477932 MGI:1921059 RGD:1565932 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SATL1 HGNC:27992 "ENST00000644105.2|NM_001367857.2" +HGNC:17795 SAV1 salvador family WW domain containing protein 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "WW45|WWP4|salvador" WW domain-containing adaptor 45 salvador homolog 1 (Drosophila) 2003-01-15 2014-04-14 2016-10-05 60485 ENSG00000151748 OTTHUMG00000140293 uc001wyh.3 AK023071 NM_021818 CCDS9701 Q9H4B6 "12202036|11027580" MGI:1927144 RGD:1307253 607203 HGNC:17795 "ENST00000324679.5|NM_021818.4" +HGNC:28566 SAXO1 stabilizer of axonemal microtubules 1 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 MGC35182 "C9orf138|FAM154A" "chromosome 9 open reading frame 138|family with sequence similarity 154, member A" 2004-04-16 2015-03-03 2015-03-03 2015-03-03 158297 ENSG00000155875 OTTHUMG00000019609 BC033489 NM_153707 "CCDS75820|CCDS75819|CCDS6487" Q8IYX7 25673876 MGI:1923061 RGD:1583685 616292 HGNC:28566 "ENST00000380534.9|NM_153707.4" +HGNC:33727 SAXO2 stabilizer of axonemal microtubules 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 DKFZp666G057 FAM154B family with sequence similarity 154, member B 2008-02-21 2015-03-03 2015-03-03 2020-04-01 283726 ENSG00000188659 AL833762 NM_001008226 CCDS32310 Q658L1 25673876 MGI:1914618 RGD:1562653 HGNC:33727 "ENST00000682753.1|NM_001348699.2" +HGNC:21025 SAYSD1 SAYSVFN motif domain containing 1 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 FLJ11101 C6orf64 chromosome 6 open reading frame 64 2003-05-06 2011-12-13 2011-12-13 2016-10-05 55776 ENSG00000112167 OTTHUMG00000014641 uc003ook.2 BC022007 NM_018322 "CCDS4840|CCDS78135" Q9NPB0 MGI:1914759 RGD:1310877 HGNC:21025 "ENST00000229903.5|NM_018322.3" +HGNC:19440 SBDS SBDS ribosome maturation factor protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "CGI-97|FLJ10917|SDS|SWDS|SDO1" "Shwachman-Bodian-Diamond syndrome|SBDS, ribosome assembly guanine nucleotide exchange factor" Ribosomal biogenesis factors 1729 2003-07-02 2019-01-22 2021-04-13 51119 ENSG00000126524 OTTHUMG00000023165 uc003tvm.2 AF151855 NM_016038 CCDS5537 Q9Y3A5 "12496757|21803848" MGI:1913961 RGD:1311043 "SBDSbase: Mutation registry for Shwachman-Diamond syndrome|http://structure.bmc.lu.se/idbase/SBDSbase/|LRG_104|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_104.xml" SBDS 607444 118476 HGNC:19440 "ENST00000246868.7|NM_016038.4" HGNC:19440 +HGNC:21646 SBDSP1 SBDS pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 SBDSP "Shwachman-Bodian-Diamond syndrome pseudogene|SBDS, ribosome assembly guanine nucleotide exchange factor pseudogene 1" 2003-07-02 2010-03-05 2019-01-22 2019-01-22 155370 ENSG00000225648 OTTHUMG00000157063 BC010183 NR_001588 "12496757|27890432" PGOHUM00000233413 HGNC:21646 +HGNC:10542 SBF1 SET binding factor 1 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "MTMR5|DENND7A" "myotubularin related 5|DENN/MADD domain containing 7A" "DENN domain containing|Pleckstrin homology domain containing|Myotubularins" "504|682|903" 1998-07-28 2016-04-25 6305 ENSG00000100241 OTTHUMG00000150204 uc003blh.5 U93181 NM_001365819 CCDS14091 O95248 "9537414|9736772" MGI:1925230 RGD:1307090 603560 364562 HGNC:10542 "ENST00000380817.8|NM_002972.4" HGNC:10542 +HGNC:31098 SBF1P1 SET binding factor 1 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 2005-10-06 2018-02-07 100133234 ENSG00000248522 OTTHUMG00000160453 NR_027765 PGOHUM00000303211 HGNC:31098 +HGNC:54552 SBF1P2 SBF1 pseudogene 2 pseudogene pseudogene Approved 1p36.22 01p36.22 2019-10-11 2019-10-11 390997 ENSG00000224904 NG_012281 HGNC:54552 +HGNC:2135 SBF2 SET binding factor 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA1766|MTMR13|DENND7B" myotubularin related 13 CMT4B2 "Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)|DENN/MADD domain containing 7B" "DENN domain containing|Pleckstrin homology domain containing|Myotubularins" "504|682|903" 1999-10-29 2004-11-12 2004-11-12 2021-04-13 81846 ENSG00000133812 OTTHUMG00000165890 uc001mib.2 AB051553 NM_030962 CCDS31427 Q86WG5 10644431 MGI:1921831 RGD:1588657 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_267|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_267.xml" 607697 118482 HGNC:2135 "ENST00000256190.13|NM_030962.4" HGNC:2135 +HGNC:27438 SBF2-AS1 SBF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 SBF2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2018-08-03 283104 ENSG00000246273 OTTHUMG00000165875 uc001mhz.2 NR_036485 "27154193|28983240" SBF2-AS1 HGNC:27438 +HGNC:17699 SBK1 SH3 domain binding kinase 1 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 Sbk SH3-binding domain kinase 1 2005-01-21 2013-09-27 2020-04-01 388228 ENSG00000188322 OTTHUMG00000166066 uc002dpd.3 NM_001024401 CCDS32416 Q52WX2 MGI:2135937 RGD:628713 objectId:2193 HGNC:17699 "ENST00000341901.5|NM_001024401.3" +HGNC:34416 SBK2 SH3 domain binding kinase family member 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SGK069 "SH3-binding domain kinase family, member 2|SH3 domain binding kinase family, member 2" 2009-01-09 2015-11-18 2015-11-18 646643 ENSG00000187550 OTTHUMG00000155830 uc061dbl.1 NM_001101401 CCDS42631 P0C263 MGI:2685925 RGD:1563279 objectId:2194 HGNC:34416 "ENST00000413299.6|NM_001370096.2" +HGNC:44121 SBK3 SH3 domain binding kinase family member 3 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 SgK110 SH3 domain binding kinase family, member 3 2013-09-27 2015-11-18 2015-11-18 100130827 ENSG00000231274 OTTHUMG00000155831 NM_001199824 CCDS74457 P0C264 MGI:2685924 RGD:1583965 objectId:2290 HGNC:44121 "ENST00000612221.1|NM_001199824.2" +HGNC:22973 SBNO1 strawberry notch homolog 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "MOP3|FLJ10701|FLJ10833|Sno" sno, strawberry notch homolog 1 (Drosophila) MicroRNA protein coding host genes 1691 2003-08-11 2016-07-08 2017-03-22 55206 ENSG00000139697 OTTHUMG00000183988 uc010tao.3 AK001563 NM_018183 "CCDS9246|CCDS53844" A3KN83 MGI:2384298 RGD:1310005 614274 471026 HGNC:22973 "ENST00000602398.3|NM_001167856.3" +HGNC:54355 SBNO1-AS1 SBNO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Antisense RNAs 1987 2019-05-15 2019-05-15 112268105 ENSG00000256092 NR_157805 HGNC:54355 +HGNC:29158 SBNO2 strawberry notch homolog 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLJ00173|Stno|Sno" KIAA0963 "KIAA0963|strawberry notch homolog 2 (Drosophila)" 2004-02-10 2006-10-06 2016-07-08 2019-08-21 22904 ENSG00000064932 OTTHUMG00000181875 uc002lrk.5 AK074102 NM_014963 "CCDS45894|CCDS45895" Q9Y2G9 10231032 MGI:2448490 RGD:1307194 615729 HGNC:29158 "ENST00000361757.8|NM_014963.3" +HGNC:24950 SBSN suprabasin protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "UNQ698|HLAR698" 2006-03-20 2020-04-01 374897 ENSG00000189001 OTTHUMG00000048102 uc002oae.2 AY358701 NM_198538 "CCDS12464|CCDS54253" Q6UWP8 12228223 MGI:2446326 RGD:1562305 609969 HGNC:24950 "ENST00000452271.7|NM_001166034.2" +HGNC:30362 SBSPON somatomedin B and thrombospondin type 1 domain containing protein-coding gene gene with protein product Approved 8q21.11 08q21.11 RPESP "RPE spondin|rpe-spondin" C8orf84 chromosome 8 open reading frame 84 2009-01-09 2012-05-15 2015-11-09 2015-11-09 157869 ENSG00000164764 OTTHUMG00000157144 uc003xzf.4 NM_153225 CCDS43747 Q8IVN8 12107410 MGI:2684952 RGD:1559717 HGNC:30362 "ENST00000297354.7|NM_153225.4" +HGNC:10546 SC4MOP sterol-C4-methyl oxidase pseudogene pseudogene pseudogene Approved Xp11.4 Xp11.4 DESP4P1 1997-11-10 2020-01-20 6308 ENSG00000224339 U93261 NG_001194 HGNC:10546 +HGNC:10547 SC5D sterol-C5-desaturase protein-coding gene gene with protein product Approved 11q23.3-q24.1 11q23.3-q24.1 "lathosterol oxidase|delta(7)-sterol 5(6)-desaturase" SC5DL "sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like|sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like|sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like" Fatty acid hydroxylase domain containing 552 1996-08-12 2013-03-04 2013-03-04 2021-05-26 6309 ENSG00000109929 OTTHUMG00000166068 uc001pxu.4 NM_001024956 CCDS8435 O75845 8976377 MGI:1353611 RGD:620775 602286 118487 1.14.19.20 HGNC:10547 "ENST00000264027.9|NM_006918.5" HGNC:10547 +HGNC:43718 SCAANT1 SCA7/ATXN7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 ATXN7-AS1 "ATXN7 antisense RNA 1 (non-protein coding)|spinocerebellar ataxia-7 antisense noncoding transcript 1" SCA7/ATXN7 antisense RNA 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2012-02-03 2012-08-15 2017-10-25 100861563 ENSG00000280620 OTTHUMG00000189735 uc062let.1 BU569004 NR_148359 21689595 614481 HGNC:43718 +HGNC:30403 SCAF1 SR-related CTD associated factor 1 protein-coding gene gene with protein product Approved 19q13.3-q13.4 19q13.3-q13.4 "SR-A1|FLJ00034" 2007-08-09 2016-03-14 2016-03-14 58506 ENSG00000126461 OTTHUMG00000183238 uc002poq.4 AK024444 NM_021228 CCDS33074 Q9H7N4 11461075 MGI:2141980 RGD:708405 617264 HGNC:30403 "ENST00000360565.8|NM_021228.3" +HGNC:19304 SCAF4 SR-related CTD associated factor 4 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "KIAA1172|DKFZp434E098|SRA4" SFRS15 splicing factor, arginine/serine-rich 15 RNA binding motif containing 725 2003-12-15 2011-01-10 2016-03-14 2018-11-19 57466 ENSG00000156304 OTTHUMG00000084903 uc002ypd.3 AB032998 NM_020706 "CCDS54482|CCDS46644|CCDS33537" O95104 10574461 MGI:2146350 RGD:727896 616023 HGNC:19304 "ENST00000286835.12|NM_020706.2" HGNC:19304 +HGNC:20959 SCAF8 SR-related CTD associated factor 8 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 KIAA1116 RBM16 RNA binding motif protein 16 RNA binding motif containing 725 2003-04-24 2011-01-10 2016-03-14 2016-10-05 22828 ENSG00000213079 OTTHUMG00000015877 uc003qpz.5 AB029039 NM_014892 "CCDS69226|CCDS5247|CCDS75541" Q9UPN6 10470851 MGI:1925212 RGD:708362 616024 HGNC:20959 "ENST00000367178.8|NM_014892.5" +HGNC:10784 SCAF11 SR-related CTD associated factor 11 protein-coding gene gene with protein product Approved 12q12 12q12 "SIP1|SRRP129|CASP11" "SFRS2IP|SRSF2IP" "splicing factor, arginine/serine-rich 2, interacting protein|serine/arginine-rich splicing factor 2, interacting protein" Ring finger proteins 58 2000-05-05 2011-01-10 2016-03-14 2016-10-05 9169 ENSG00000139218 OTTHUMG00000149930 uc001rox.4 Y11251 NM_004719 CCDS8748 Q99590 "9224939|9447963" MGI:1919443 RGD:1598325 603668 HGNC:10784 "ENST00000369367.8|NM_004719.3" +HGNC:26709 SCAI suppressor of cancer cell invasion protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "FLJ36664|NET40" C9orf126 chromosome 9 open reading frame 126 2004-04-15 2009-07-09 2009-07-09 2018-12-14 286205 ENSG00000173611 OTTHUMG00000020667 uc004bpe.4 AK093983 NM_173690 "CCDS48017|CCDS43877" Q8N9R8 "19350017|27820601" MGI:2443716 RGD:1594720 619222 HGNC:26709 "ENST00000336505.11|NM_001144877.3" +HGNC:10563 SCAMP1 secretory carrier membrane protein 1 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 SCAMP37 Secretory carrier membrane proteins 735 1999-05-21 2018-09-06 9522 ENSG00000085365 OTTHUMG00000162479 uc032uzx.2 AF038966 NM_004866 "CCDS78025|CCDS75264" O15126 9378760 MGI:1349480 RGD:3625 606911 HGNC:10563 "ENST00000621999.5|NM_004866.6" +HGNC:50544 SCAMP1-AS1 SCAMP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 Antisense RNAs 1987 2014-05-14 2014-05-20 728769 ENSG00000245556 OTTHUMG00000162481 NR_105014 SCAMP1-AS1 HGNC:50544 +HGNC:10564 SCAMP2 secretory carrier membrane protein 2 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 Secretory carrier membrane proteins 735 1999-05-21 2016-10-05 10066 ENSG00000140497 OTTHUMG00000142817 uc002azb.2 AF005038 NM_005697 CCDS10271 O15127 9378760 MGI:1346518 RGD:68348 606912 HGNC:10564 "ENST00000268099.13|NM_005697.5" +HGNC:10565 SCAMP3 secretory carrier membrane protein 3 protein-coding gene gene with protein product Approved 1q22 01q22 Propin 1 C1orf3 Secretory carrier membrane proteins 735 1999-05-21 2016-10-05 10067 ENSG00000116521 OTTHUMG00000035874 uc001fjs.4 AF005039 NM_005698 "CCDS1105|CCDS1106" O14828 "9331372|9658162" MGI:1346346 RGD:68351 606913 HGNC:10565 "ENST00000302631.8|NM_005698.4" +HGNC:30385 SCAMP4 secretory carrier membrane protein 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ33847 Secretory carrier membrane proteins 735 2004-02-13 2014-11-18 113178 ENSG00000227500 OTTHUMG00000154590 uc002luj.5 AK091166 NM_079834 "CCDS45903|CCDS86689" Q969E2 MGI:1928947 RGD:68354 613764 HGNC:30385 "ENST00000316097.13|NM_079834.4" +HGNC:30386 SCAMP5 secretory carrier membrane protein 5 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 MGC24969 Secretory carrier membrane proteins 735 2004-02-13 2019-03-19 192683 ENSG00000198794 OTTHUMG00000172704 uc002azk.3 AL833230 NM_138967 CCDS45306 Q8TAC9 "15840657|19240033" MGI:1928948 RGD:68356 613766 HGNC:30386 "ENST00000425597.8|NM_138967.4" HGNC:30386 +HGNC:10566 SCAND1 SCAN domain containing 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "SDP1|RAZ1" SCAN domain-containing 1 SCAN domain containing 42 2000-06-16 2002-01-14 2021-04-27 51282 ENSG00000171222 OTTHUMG00000032370 uc002xep.3 AF204271 NM_016558 CCDS13269 P57086 "10777584|10747874|12444922" MGI:1343132 RGD:1308530 610416 HGNC:10566 "ENST00000305978.7|NM_033630.3" +HGNC:10567 SCAND2P SCAN domain containing 2 pseudogene pseudogene pseudogene Approved 15q25.2 15q25.2 SCAND2 "SCAN domain-containing 2|SCAN domain containing 2" 2000-06-16 2013-01-09 2008-07-09 2021-04-27 54581 ENSG00000176700 OTTHUMG00000166569 AF229246 NR_003654 Q9GZW5 "11056053|12036577" 610417 HGNC:10567 +HGNC:30634 SCAP SREBF chaperone protein-coding gene gene with protein product Approved 3p21.31 03p21.31 KIAA0199 SREBP cleavage activating protein WD repeat domain containing 362 2007-01-02 2014-11-19 22937 ENSG00000114650 OTTHUMG00000125539 uc003crh.2 BC020987 NM_012235 CCDS2755 Q12770 "8898195|8724849|10570913" MGI:2135958 RGD:1309378 601510 HGNC:30634 "ENST00000265565.10|NM_012235.4" +HGNC:13081 SCAPER S-phase cyclin A associated protein in the ER protein-coding gene gene with protein product Approved 15q24.3 15q24.3 Zfp291 ZNF291 zinc finger protein 291 Zinc fingers C2H2-type 28 2000-03-15 2007-08-20 2016-05-16 2021-05-26 49855 ENSG00000140386 OTTHUMG00000172655 uc002bby.4 "AB040887|AF242528" NM_020843 "CCDS53962|CCDS53961" Q9BY12 17698606 MGI:1925976 RGD:621585 611611 HGNC:13081 "ENST00000563290.6|NM_020843.4" HGNC:13081 +HGNC:19000 SCARA3 scavenger receptor class A member 3 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "CSR1|CSR|MSLR1|APC7|MSRL1" macrophage scavenger receptor-like 1 scavenger receptor class A, member 3 "Scavenger receptors|MicroRNA protein coding host genes" "1253|1691" 2002-09-06 2015-12-16 2016-10-05 51435 ENSG00000168077 OTTHUMG00000163898 uc003xga.2 AB007829 NM_016240 "CCDS34870|CCDS34871" Q6AZY7 "9747040|9580669" MGI:2444418 RGD:1309269 602728 HGNC:19000 "ENST00000301904.4|NM_016240.3" +HGNC:28701 SCARA5 scavenger receptor class A member 5 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "FLJ23907|MGC45780|NET33" "scavenger receptor class A, member 5 (putative)|scavenger receptor class A, member 5" "Scavenger receptors|Scavenger receptor cysteine rich domain containing|MicroRNA protein coding host genes" "1253|1404|1691" 2005-10-04 2015-12-16 2015-12-16 286133 ENSG00000168079 OTTHUMG00000132172 uc003xgj.4 AK172746 NM_173833 CCDS6064 Q6ZMJ2 19154717 MGI:1918395 RGD:1306539 611306 HGNC:28701 "ENST00000354914.8|NM_173833.6" +HGNC:1664 SCARB1 scavenger receptor class B member 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "SRB1|CLA-1|CLA1|SR-BI" CD36L1 "CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1|scavenger receptor class B, member 1" Scavenger receptors 1253 1994-09-06 2002-09-06 2015-12-16 2016-10-05 949 ENSG00000073060 OTTHUMG00000168544 uc001ugm.5 Z22555 NM_005505 "CCDS9259|CCDS45008" Q8WTV0 7689561 MGI:893578 RGD:2302 601040 471028 HGNC:1664 "ENST00000261693.11|NM_005505.5" +HGNC:1665 SCARB2 scavenger receptor class B member 2 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "HLGP85|LIMPII|SR-BII|LIMP-2" "lysosome membrane protein 2|lysosomal integral membrane protein II" CD36L2 CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II) Scavenger receptors 1253 1994-09-07 2002-09-06 2015-12-16 2021-05-26 950 ENSG00000138760 OTTHUMG00000130099 uc003hju.3 D12676 NM_005506 "CCDS3577|CCDS56335" Q14108 1374238 MGI:1196458 RGD:621882 602257 165923 HGNC:1665 "ENST00000264896.8|NM_005506.4" HGNC:1665 +HGNC:16820 SCARF1 scavenger receptor class F member 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "SREC|KIAA0149|SREC1" "scavenger receptor expressed by endothelial cells|acetyl LDL receptor" scavenger receptor class F, member 1 Scavenger receptors 1253 2002-09-06 2015-12-16 2017-02-28 8578 ENSG00000074660 OTTHUMG00000090555 uc002fsz.3 D63483 NM_003693 "CCDS45564|CCDS11007" Q14162 "9395444|8590280" MGI:2449455 RGD:1309330 607873 HGNC:16820 "ENST00000263071.9|NM_003693.4" +HGNC:19869 SCARF2 scavenger receptor class F member 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "SREC-II|SREC2|HUMZD58C02" scavenger receptor class F, member 2 Scavenger receptors 1253 2003-02-13 2015-12-16 2021-05-26 91179 ENSG00000244486 OTTHUMG00000150779 uc062bss.1 AF522196 NM_153334 "CCDS13779|CCDS46666" Q96GP6 12154095 MGI:1858430 RGD:1306013 613619 244390 HGNC:19869 "ENST00000622235.5|NM_182895.5" HGNC:19869 +HGNC:32555 SCARNA1 small Cajal body-specific RNA 1 non-coding RNA RNA, small nucleolar Approved 1p35.3 01p35.3 ACA35 Small Cajal body-specific RNAs 847 2006-03-31 2017-01-11 677774 ENSG00000252947 uc001boy.1 AJ609484 NR_002997 SR0000002 HGNC:32555 +HGNC:32558 SCARNA2 small Cajal body-specific RNA 2 non-coding RNA RNA, small nucleolar Approved 1q13.1 01q13.1 "mgU2-25/61|HBII-382" Small Cajal body-specific RNAs 847 2006-03-31 2015-01-30 677766 ENSG00000278249 OTTHUMG00000184013 uc057ixi.1 BK005568 NR_003023 15556860 SR0000023 HGNC:32558 +HGNC:32577 SCARNA3 small Cajal body-specific RNA 3 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 HBI-100 Small Cajal body-specific RNAs 847 2006-03-31 2014-11-19 677679 ENSG00000252906 uc057nmy.1 NR_002998 11387227 RGD:7489043 SR0000036 HGNC:32577 +HGNC:32560 SCARNA4 small Cajal body-specific RNA 4 non-coding RNA RNA, small nucleolar Approved 1q22 01q22 ACA26 Small Cajal body-specific RNAs 847 2006-03-31 2018-06-15 677771 ENSG00000280466 uc057lts.1 AJ609483 NR_003005 SR0000025 HGNC:32560 +HGNC:32561 SCARNA5 small Cajal body-specific RNA 5 non-coding RNA RNA, small nucleolar Approved 2q37.1 02q37.1 U87 Small Cajal body-specific RNAs 847 2006-03-31 2013-09-05 677775 ENSG00000252010 uc002vue.2 AY077737 NR_003008 12032087 615640 SR0000283 HGNC:32561 +HGNC:32562 SCARNA6 small Cajal body-specific RNA 6 non-coding RNA RNA, small nucleolar Approved 2q37.1 02q37.1 U88 Small Cajal body-specific RNAs 847 2006-03-31 2013-09-05 677772 ENSG00000251791 uc002vuf.2 AY077738 NR_003006 12032087 615641 SR0000284 HGNC:32562 +HGNC:32563 SCARNA7 small Cajal body-specific RNA 7 non-coding RNA RNA, small nucleolar Approved 3q25.22 03q25.22 U90 Small Cajal body-specific RNAs 847 2006-03-31 2013-09-05 677767 ENSG00000238741 uc003fdo.3 AY077740 NR_003001 12032087 615644 SR0000310 HGNC:32563 +HGNC:32564 SCARNA8 small Cajal body-specific RNA 8 non-coding RNA RNA, small nucleolar Approved 9p22.1 09p22.1 U92 Small Cajal body-specific RNAs 847 2006-03-31 2018-06-15 677776 ENSG00000251733 uc003znn.1 AY077742 NR_003009 12032087 615646 SR0000356 HGNC:32564 +HGNC:32566 SCARNA9 small Cajal body-specific RNA 9 non-coding RNA RNA, small nucleolar Approved 11q21 11q21 "mgU2-19/30|Z32|lncC11orf54-1" Small Cajal body-specific RNAs 847 2006-03-31 2022-01-05 619383 ENSG00000254911 OTTHUMG00000167450 uc001pdv.4 BK005567 NR_002569 15556860 SR0000064 HGNC:32566 +HGNC:33559 SCARNA9L small Cajal body-specific RNA 9 like pseudogene pseudogene Approved Xp22.12 Xp22.12 small Cajal body-specific RNA 9-like (retrotransposed) Small Cajal body-specific RNAs 847 2008-05-29 2019-02-19 2019-02-19 100158262 NR_023358 HGNC:33559 +HGNC:32567 SCARNA10 small Cajal body-specific RNA 10 non-coding RNA RNA, small nucleolar Approved 12p13.31 12p13.31 "U85|lnc|MBI|52" Small Cajal body-specific RNAs 847 2006-03-31 2021-12-02 692148 ENSG00000239002 OTTHUMG00000169160 uc009zeo.1 AF308283 NR_004387 11157760 615639 SR0000073 HGNC:32567 +HGNC:32568 SCARNA11 small Cajal body-specific RNA 11 non-coding RNA RNA, small nucleolar Approved 12p13.31 12p13.31 ACA57 Small Cajal body-specific RNAs 847 2006-03-31 2013-09-05 677780 ENSG00000251898 uc001qpr.2 AJ609487 NR_003012 SR0000074 HGNC:32568 +HGNC:32569 SCARNA12 small Cajal body-specific RNA 12 non-coding RNA RNA, small nucleolar Approved 12p13.31 12p13.31 U89 Small Cajal body-specific RNAs 847 2006-03-31 2013-09-05 677777 ENSG00000238795 uc001qsg.3 AY077739 NR_003010 615642 SR0000075 HGNC:32569 +HGNC:32570 SCARNA13 small Cajal body-specific RNA 13 non-coding RNA RNA, small nucleolar Approved 14q32.12 14q32.12 U93 Small Cajal body-specific RNAs 847 2006-03-31 2018-06-15 677768 ENSG00000252481 uc001yel.4 AF492209 NR_003002 12409454 SR0000089 HGNC:32570 +HGNC:32571 SCARNA14 small Cajal body-specific RNA 14 non-coding RNA RNA, small nucleolar Approved 15q22.31 15q22.31 U100 Small Cajal body-specific RNAs 847 2006-03-31 2013-09-05 692149 ENSG00000252712 uc010bhp.2 AY349601 NR_004388 14602913 SR0000210 HGNC:32571 +HGNC:32572 SCARNA15 small Cajal body-specific RNA 15 non-coding RNA RNA, small nucleolar Approved 15q25.2 15q25.2 ACA45 Small Cajal body-specific RNAs 847 2006-03-31 2018-06-15 677778 ENSG00000277864 uc061xcp.1 AJ609485 NR_003011 RGD:7489047 612675 SR0000215 HGNC:32572 +HGNC:32573 SCARNA16 small Cajal body-specific RNA 16 non-coding RNA RNA, small nucleolar Approved 17q25.2 17q25.2 ACA47 Small Cajal body-specific RNAs 847 2006-03-31 2018-06-15 677781 ENSG00000275143 uc061jcu.1 AJ609486 NR_003013 SR0000253 HGNC:32573 +HGNC:32574 SCARNA17 small Cajal body-specific RNA 17 non-coding RNA RNA, small nucleolar Approved 18q21.1 18q21.1 "mgU12-22/U4-8|U91" Small Cajal body-specific RNAs 847 2006-03-31 2018-06-15 677769 ENSG00000251992 OTTHUMG00000179829 uc060pco.1 "BK005569|AY077741" NR_003003 15556860 615645 SR0000256 HGNC:32574 +HGNC:32559 SCARNA18 small Cajal body-specific RNA 18 non-coding RNA RNA, small nucleolar Approved 5q14.2 05q14.2 "U109|SCARNA18A" Small Cajal body-specific RNAs 847 2006-03-31 2015-10-29 677765 ENSG00000238835 uc003khz.3 AM055742 NR_003139 16361266 611329 SR0000324 HGNC:32559 +HGNC:52236 SCARNA18B small Cajal body-specific RNA 18B non-coding RNA RNA, small nucleolar Approved 1q31.2 01q31.2 2015-10-29 2015-10-29 107397392 ENSG00000238754 NR_135615 HGNC:52236 +HGNC:32578 SCARNA20 small Cajal body-specific RNA 20 non-coding RNA RNA, small nucleolar Approved 17q23.2 17q23.2 ACA66 Small Cajal body-specific RNAs 847 2006-03-31 2013-09-05 677681 ENSG00000252577 uc060cwb.1 NR_002999 16373490 SR0000247 HGNC:32578 +HGNC:32579 SCARNA21 small Cajal body-specific RNA 21 non-coding RNA RNA, small nucleolar Approved 17p13.1 17p13.1 "ACA68|SCARNA21A" Small Cajal body-specific RNAs 847 2006-03-31 2015-10-29 677763 ENSG00000252835 uc061hct.1 NR_003000 16373490 SR0000231 HGNC:32579 +HGNC:52237 SCARNA21B small Cajal body-specific RNA 21B non-coding RNA RNA, small nucleolar Approved 1p36.21 01p36.21 2015-10-29 2017-01-27 107397391 ENSG00000251866 NR_135613 27174936 HGNC:52237 +HGNC:32580 SCARNA22 small Cajal body-specific RNA 22 non-coding RNA RNA, small nucleolar Approved 4p16.3 04p16.3 ACA11 Small Cajal body-specific RNAs 847 2006-03-31 2018-06-15 677770 ENSG00000249784 OTTHUMG00000161833 uc003gej.3 AJ609470 NR_003004 SR0000317 HGNC:32580 +HGNC:32581 SCARNA23 small Cajal body-specific RNA 23 non-coding RNA RNA, small nucleolar Approved Xp22.11 Xp22.11 ACA12 Small Cajal body-specific RNAs 847 2006-03-31 2018-06-15 677773 ENSG00000251869 uc004dbo.1 AJ609482 NR_003007 SR0000367 HGNC:32581 +HGNC:50385 SCARNA26A small Cajal body-specific RNA 26A non-coding RNA RNA, small nucleolar Approved 1q22 01q22 Small Cajal body-specific RNAs 847 2014-11-20 2015-09-30 106633810 NR_132762 25514182 HGNC:50385 +HGNC:51394 SCARNA26B small Cajal body-specific RNA 26B non-coding RNA RNA, small nucleolar Approved 1q22 01q22 Small Cajal body-specific RNAs 847 2014-11-20 2020-04-20 106633816 NR_132763 25514182 HGNC:51394 +HGNC:33614 SCARNA27 small Cajal body-specific RNA 27 non-coding RNA RNA, small nucleolar Approved 6p24.3 06p24.3 Small Cajal body-specific RNAs 847 2007-08-24 2011-04-13 100124533 AM413021 NR_003703 HGNC:33614 +HGNC:50388 SCARNA28 small Cajal body-specific RNA 28 non-coding RNA RNA, small nucleolar Approved 7q22.1 07q22.1 ZL1 Small Cajal body-specific RNAs 847 2014-11-20 2015-09-30 106633801 NR_132754 25514182 HGNC:50388 +HGNC:32411 SCART1 scavenger receptor family member expressed on T cells 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 CD163c-alpha scavenger receptor family member expressed on T-cells 1 Scavenger receptor cysteine rich domain containing 1404 2017-02-28 2017-12-06 2021-10-06 619207 ENSG00000214279 OTTHUMG00000019326 NM_001396050 Q4G0T1 "19297026|22795646" MGI:2443796 RGD:1307378 HGNC:32411 +HGNC:52930 SCAT1 S-phase cancer associated transcript 1 non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 "CTD-2357A8.3|XLOC_012582" LINC02081 long intergenic non-protein coding RNA 2081 Long non-coding RNAs with non-systematic symbols 1992 2016-12-20 2018-08-03 2018-08-03 2018-08-03 101928710 ENSG00000267123 OTTHUMG00000177747 NR_110848 "28028307|28125665|29491376" HGNC:52930 +HGNC:53976 SCAT2 S-phase cancer associated transcript 2 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 CBX5-AS1 CBX5 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2018-08-03 2018-08-03 112935960 ENSG00000257596 OTTHUMG00000169701 NR_157844 29491376 HGNC:53976 +HGNC:40967 SCAT8 S-phase cancer associated transcript 8 non-coding RNA RNA, long non-coding Approved 6q12 06q12 EYS-AS1 EYS antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2018-08-03 2018-08-03 112935969 ENSG00000236345 OTTHUMG00000014954 NR_157848 29491376 HGNC:40967 +HGNC:24275 SCCPDH saccharopine dehydrogenase (putative) protein-coding gene gene with protein product Approved 1q44 01q44 "CGI-49|NET11" 2005-06-22 2015-07-16 51097 ENSG00000143653 OTTHUMG00000040221 uc001ibr.4 NM_016002 CCDS31084 Q8NBX0 10810093 MGI:1924486 RGD:1311440 HGNC:24275 "ENST00000366510.4|NM_016002.3" +HGNC:10571 SCD stearoyl-CoA desaturase protein-coding gene gene with protein product Approved 10q24.31 10q24.31 FADS5 "acyl-CoA desaturase|fatty acid desaturase|delta-9-desaturase" SCDOS "stearoyl-CoA desaturase opposite strand|stearoyl-CoA desaturase (delta-9-desaturase)" Fatty acid desaturases 553 1995-01-03 2016-05-20 2016-10-05 6319 ENSG00000099194 OTTHUMG00000018906 uc001kqy.4 AF097514 NM_005063 CCDS7493 O00767 "7909540|10229681" "MGI:1353437|MGI:2670997|MGI:98239|MGI:98240" RGD:621176 604031 1.14.19.1 HGNC:10571 "ENST00000370355.3|NM_005063.5" +HGNC:21088 SCD5 stearoyl-CoA desaturase 5 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "ACOD4|FLJ21032|FADS4|HSCD5" SCD4 stearoyl-CoA desaturase 4 "Fatty acid desaturases|MicroRNA protein coding host genes" "553|1691" 2003-05-16 2005-06-09 2005-06-09 2019-03-19 79966 ENSG00000145284 OTTHUMG00000130293 uc003hna.3 AF389338 NM_024906 "CCDS3595|CCDS34024" Q86SK9 "15907797|21595943" "MGI:98239|MGI:1353437" 608370 HGNC:21088 "ENST00000319540.9|NM_001037582.3" +HGNC:10572 SCDP1 stearoyl-CoA desaturase pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 SCDP "stearoyl-CoA desaturase (delta-9-desaturase) pseudogene|stearoyl-CoA desaturase (delta-9-desaturase) pseudogene 1" 1999-07-30 2010-03-05 2016-06-27 2020-04-20 645313 ENSG00000226549 OTTHUMG00000059556 NG_016706 10229681 PGOHUM00000237298 HGNC:10572 +HGNC:10573 SCEL sciellin protein-coding gene gene with protein product Approved 13q22.3 13q22.3 "FLJ21667|MGC22531" LIM domain containing 1218 1998-11-26 2016-10-05 8796 ENSG00000136155 OTTHUMG00000017107 uc001vki.4 AF045941 NM_144777 "CCDS9458|CCDS9459|CCDS53877" O95171 9813070 MGI:1891228 RGD:1305102 604112 HGNC:10573 "ENST00000349847.4|NM_144777.3" +HGNC:39895 SCEL-AS1 SCEL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q22.3 13q22.3 SCEL antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-08 2012-08-15 2012-10-12 104355296 ENSG00000224347 OTTHUMG00000017106 uc058xpi.1 NR_126412 SCEL-AS1 HGNC:39895 +HGNC:20726 SCFD1 sec1 family domain containing 1 protein-coding gene gene with protein product Approved 14q12 14q12 "RA410|KIAA0917|STXBP1L2|SLY1" C14orf163 chromosome 14 open reading frame 163 2003-03-25 2004-01-16 2004-01-15 2015-08-25 23256 ENSG00000092108 OTTHUMG00000029420 uc001wqm.3 AF110646 NM_182835 "CCDS45092|CCDS58308|CCDS9639" Q8WVM8 MGI:1924233 RGD:619828 618207 HGNC:20726 "ENST00000458591.7|NM_016106.4" +HGNC:30676 SCFD2 sec1 family domain containing 2 protein-coding gene gene with protein product Approved 4q12 04q12 "STXBP1L1|FLJ39514" 2004-01-15 2022-01-11 152579 ENSG00000184178 OTTHUMG00000160588 uc003gzu.4 AY299407 NM_152540 CCDS33984 Q8WU76 32213542 MGI:2443446 RGD:1562708 HGNC:30676 "ENST00000401642.8|NM_152540.4" +HGNC:10575 SCG2 secretogranin II protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "CHGC|SgII|SN" "secretoneurin|chromogranin C" Granins 925 1999-01-26 2010-04-27 2016-10-05 7857 ENSG00000171951 OTTHUMG00000133166 uc002vnm.4 M25756 NM_003469 CCDS2457 P13521 "8617499|16101435" MGI:103033 RGD:3626 118930 HGNC:10575 "ENST00000305409.3|NM_003469.5" +HGNC:13707 SCG3 secretogranin III protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "SgIII|FLJ90833" Granins 925 2000-10-18 2015-03-16 29106 ENSG00000104112 OTTHUMG00000131748 uc002abh.4 AF078851 NM_013243 "CCDS10142|CCDS53947" Q8WXD2 "2053134|8825061" MGI:103032 RGD:621209 611796 HGNC:13707 "ENST00000220478.8|NM_013243.4" +HGNC:10816 SCG5 secretogranin V protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "7B2|SgV" prohormone convertase chaperone SGNE1 secretory granule, neuroendocrine protein 1 (7B2 protein) Granins 925 1989-09-22 2006-03-20 2015-03-16 2016-10-05 6447 ENSG00000166922 OTTHUMG00000159447 uc001zha.3 Y00757 NM_003020 "CCDS45208|CCDS45207" P05408 "8162254|12646671" MGI:98289 RGD:3669 173120 I21.001 HGNC:10816 "ENST00000300175.9|NM_001144757.3" +HGNC:40524 SCG5-AS1 SCG5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q13.3 15q13.3 Antisense RNAs 1987 2020-03-19 2020-03-19 105370757 ENSG00000241818 OTTHUMG00000159446 NR_135505 +HGNC:12523 SCGB1A1 secretoglobin family 1A member 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "CC10|CCSP|CC16" Uteroglobin (Clara-cell specific 10-kD protein) UGB uteroglobin Secretoglobins 734 1992-11-03 2002-03-22 2016-01-05 2016-01-05 7356 ENSG00000149021 OTTHUMG00000167526 uc001ntj.4 NM_003357 CCDS8020 P11684 "1284526|22155607" MGI:98919 RGD:3934 192020 HGNC:12523 "ENST00000278282.3|NM_003357.5" +HGNC:18392 SCGB1B1P secretoglobin family 1B member 1, pseudogene pseudogene pseudogene Approved 19q13.1 19q13.1 Abpa1p Secretoglobins 734 2013-10-23 2016-01-05 2016-02-08 112441443 NG_066026 22155607 HGNC:18392 +HGNC:20741 SCGB1B2P secretoglobin family 1B member 2, pseudogene pseudogene pseudogene Approved 19q13.11 19q13.11 SCGB4A1P Secretoglobins 734 2011-12-14 2016-01-05 2016-07-21 643719 ENSG00000268751 OTTHUMG00000182921 uc010xry.3 NR_027620 22155607 HGNC:20741 +HGNC:20943 SCGB1B3P secretoglobin family 1B member 3, pseudogene pseudogene pseudogene Approved 19q13.11 19q13.11 SCGB4A4 SCGB1B3 secretoglobin, family 1B, member 3 Secretoglobins 734 2011-12-14 2012-07-05 2016-01-05 2016-01-05 112163673 NG_066001 22155607 HGNC:20943 +HGNC:18394 SCGB1C1 secretoglobin family 1C member 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 RYD5 Secretoglobins 734 2005-01-11 2016-01-05 2016-01-05 147199 ENSG00000188076 OTTHUMG00000165539 uc001loa.1 AY026938 NM_145651 CCDS41581 Q8TD33 22155607 MGI:2655401 RGD:1561432 610176 HGNC:18394 "ENST00000342878.3|NM_145651.3" +HGNC:51242 SCGB1C2 secretoglobin family 1C member 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 Secretoglobins 734 2014-10-08 2016-01-05 2016-01-05 653486 ENSG00000268320 OTTHUMG00000189257 NM_001097610 CCDS73933 P0DMR2 MGI:2655401 HGNC:51242 "ENST00000595228.4|NM_001097610.3" +HGNC:18395 SCGB1D1 secretoglobin family 1D member 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "LPHA|LIPA|MGC71958" "prostatein-like lipophilin A|lipophilin A (uteroglobin family member)" Secretoglobins 734 2002-03-22 2016-01-05 2016-10-05 10648 ENSG00000168515 OTTHUMG00000167505 uc001nsz.2 AJ224171 NM_006552 CCDS8015 O95968 "9720917|10066439|22155607" 615060 HGNC:18395 "ENST00000306238.3|NM_006552.2" +HGNC:18396 SCGB1D2 secretoglobin family 1D member 2 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "LPHB|LIPB" "prostatein-like lipophilin B|lipophilin B (uteroglobin family member), prostatein-like" Secretoglobins 734 2002-03-22 2016-06-17 2016-10-05 10647 ENSG00000124935 OTTHUMG00000167508 uc001ntb.4 AJ224172 NM_006551 CCDS8017 O95969 "10066439|9720917|22155607" RGD:708459 615061 HGNC:18396 "ENST00000244926.4|NM_006551.4" +HGNC:31748 SCGB1D4 secretoglobin family 1D member 4 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 IIS Secretoglobins 734 2005-09-13 2016-01-05 2016-01-05 404552 ENSG00000197745 OTTHUMG00000167510 uc001ntd.2 AY236538 NM_206998 CCDS31583 Q6XE38 "15034037|15340161|22155607" RGD:1302961 615062 HGNC:31748 "ENST00000358585.3|NM_206998.2" +HGNC:42735 SCGB1D5P secretoglobin family 1D member 5, pseudogene pseudogene pseudogene Approved 4q32.3 04q32.3 SCGB1D1P1 secretoglobin, family 1D, member 1 pseudogene 1 Secretoglobins 734 2011-08-17 2011-12-14 2016-01-05 2016-07-21 100874258 ENSG00000248287 OTTHUMG00000161129 NG_032727 22155607 PGOHUM00000300065 HGNC:42735 +HGNC:7051 SCGB2A1 secretoglobin family 2A member 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "UGB3|LPHC|MGC71973" "lipophilin C|mammaglobin B|lacryglobin" MGB2 mammaglobin 2 Secretoglobins 734 1998-07-22 2002-03-22 2016-01-05 2016-10-05 4246 ENSG00000124939 OTTHUMG00000167506 uc001nta.2 AF071219 NM_002407 CCDS8016 O75556 "9806831|22155607" MGI:3780828 RGD:735031 604398 HGNC:7051 "ENST00000244930.6|NM_002407.3" +HGNC:7050 SCGB2A2 secretoglobin family 2A member 2 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "UGB2|MGC71974" mammaglobin-A "MGB1|PSBP1" "mammaglobin 1|prostatic steroid binding protein 1|prostatic steroid-binding protein 1" Secretoglobins 734 1998-07-22 2002-03-22 2016-01-05 2021-11-25 4250 ENSG00000110484 OTTHUMG00000167509 uc001ntc.5 AF015224 NM_002411 CCDS8018 Q13296 "9488047|8631025|22155607" MGI:3780828 RGD:3424 605562 HGNC:7050 "ENST00000227918.3|NM_002411.4" +HGNC:31898 SCGB2B1P secretoglobin family 2B member 1, pseudogene pseudogene pseudogene Approved 19q13.11 19q13.11 Abpbg1p Secretoglobins 734 2013-10-23 2016-01-05 2016-02-08 112416061 NG_066024 22155607 HGNC:31898 +HGNC:27616 SCGB2B2 secretoglobin family 2B member 2 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 SCGB4A2 SCGBL secretoglobin-like Secretoglobins 734 2009-01-14 2011-12-14 2016-01-05 2016-01-05 284402 ENSG00000205209 OTTHUMG00000182463 uc002nvo.2 AK093495 NM_001025591 CCDS32989 Q4G0G5 22155607 615063 HGNC:27616 "ENST00000601241.6|NM_001025591.4" +HGNC:31895 SCGB2B3P secretoglobin family 2B member 3, pseudogene pseudogene pseudogene Approved 19q13.11 19q13.11 "C2B|SCGB4A3P" Secretoglobins 734 2011-12-14 2016-01-05 2016-01-05 100130342 ENSG00000269811 OTTHUMG00000184882 NR_045208 22155607 PGOHUM00000234663 HGNC:31895 +HGNC:18384 SCGB3A1 secretoglobin family 3A member 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "UGRP2|HIN-1|HIN1|LU105|PnSP-2" "cytokine high in normal-1|pneumo secretory protein 2" Secretoglobins 734 2002-03-22 2016-01-05 2016-01-05 92304 ENSG00000161055 OTTHUMG00000130936 uc003mly.4 AF313458 NM_052863 CCDS4456 Q96QR1 "11682631|11481438|22155607" MGI:1915912 RGD:727901 606500 HGNC:18384 "ENST00000292641.4|NM_052863.3" +HGNC:18391 SCGB3A2 secretoglobin family 3A member 2 protein-coding gene gene with protein product Approved 5q32 05q32 "UGRP1|LU103|PNSP1" "uteroglobin-related protein 1|pneumo secretory protein 1|uteroglobin related protein 1" Secretoglobins 734 2002-03-22 2016-01-05 2016-01-05 117156 ENSG00000164265 OTTHUMG00000129729 uc003lot.3 AF313455 NM_054023 CCDS4287 Q96PL1 "11682631|22155607" MGI:2153470 RGD:1564790 606531 HGNC:18391 "ENST00000296694.5|NM_054023.5" +HGNC:16941 SCGN secretagogin, EF-hand calcium binding protein protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "SECRET|DJ501N12.8|SEGN|CALBL" calbindin-like EF-hand domain containing 863 2002-05-23 2016-10-05 10590 ENSG00000079689 OTTHUMG00000014409 uc003nfb.4 BC000336 NM_006998 CCDS4561 O76038 10811645 MGI:2384873 RGD:1303281 609202 HGNC:16941 "ENST00000377961.3|NM_006998.4" +HGNC:15678 SCHIP1 schwannomin interacting protein 1 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 SCHIP-1 schwannomin-interacting protein 1 MicroRNA protein coding host genes 1691 2001-05-09 2001-11-29 2022-01-28 29970 ENSG00000151967 OTTHUMG00000158934 uc003fcu.3 AF070614 NM_014575 "CCDS56292|CCDS56293|CCDS56294|CCDS3186" P0DPB3 "10669747|8619474|17045569" MGI:1353557 RGD:1309962 619206 HGNC:15678 "ENST00000638749.2|NM_014575.4" HGNC:15678 +HGNC:48603 SCHLAP1 SWI/SNF complex antagonist associated with prostate cancer 1 non-coding RNA RNA, long non-coding Approved 2q31.3 02q31.3 PCAT11 "Second Chromosome Locus Associated with Prostate 1|prostate cancer associated transcript 11" LINC00913 "long intergenic non-protein coding RNA 913|SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-05-21 2013-12-06 2018-05-16 2020-05-04 101669767 ENSG00000281131 OTTHUMG00000189571 JX117418 NR_104323 "24076601|24165726" 615568 schlap1 SCHLAP1 HGNC:48603 +HGNC:33504 SCIMP SLP adaptor and CSK interacting membrane protein protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "DTFT5783|UNQ5783|FLJ32580|MGC163426|MGC163428" SLP65/SLP76, Csk-interacting membrane protein C17orf87 chromosome 17 open reading frame 87 2007-06-25 2011-11-23 2011-11-23 2014-11-19 388325 ENSG00000161929 OTTHUMG00000132914 uc002gbh.4 AY358809 NM_207103 "CCDS42242|CCDS82046|CCDS62044" Q6UWF3 21930792 MGI:3610314 RGD:1593299 614406 HGNC:33504 "ENST00000574081.6|NM_207103.3" +HGNC:21695 SCIN scinderin protein-coding gene gene with protein product Approved 7p21.3 07p21.3 KIAA1905 adseverin Gelsolin/villins 950 2003-07-10 2015-06-02 85477 ENSG00000006747 OTTHUMG00000152385 uc003ssn.5 AF276507 NM_033128 "CCDS47545|CCDS47546" Q9Y6U3 MGI:1306794 RGD:735034 613416 HGNC:21695 "ENST00000297029.10|NM_001112706.3" +HGNC:55341 SCIRT stem cell inhibitory RNA transcript non-coding RNA RNA, long non-coding Approved 6p21.1 06p21.1 Long non-coding RNAs with non-systematic symbols 1992 2020-11-11 2020-11-18 101929705 ENSG00000237686 NR_125864 33172932 +HGNC:26406 SCLT1 sodium channel and clathrin linker 1 protein-coding gene gene with protein product Approved 4q28.2 04q28.2 "hCAP-1A|FLJ30655" 2006-07-18 2014-11-19 132320 ENSG00000151466 OTTHUMG00000133346 uc003igp.3 AK055217 NM_144643 "CCDS77957|CCDS3740|CCDS77958" Q96NL6 15797711 MGI:1914411 RGD:628721 611399 471030 HGNC:26406 "ENST00000281142.10|NM_144643.4" HGNC:26406 +HGNC:18161 SCLY selenocysteine lyase protein-coding gene gene with protein product Approved 2q37.3 02q37.3 SCL putative selenocysteine lyase 2004-02-03 2016-07-29 51540 ENSG00000132330 OTTHUMG00000133336 uc010fyv.5 AF175767 NM_016510 CCDS2524 Q96I15 10692412 MGI:1355310 RGD:1359514 611056 4.4.1.16 HGNC:18161 "ENST00000254663.12|NM_016510.7" +HGNC:19003 SCMH1 Scm polycomb group protein homolog 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Scml3 sex comb on midleg homolog 1 (Drosophila) "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 2003-01-15 2017-07-18 2017-07-18 22955 ENSG00000010803 OTTHUMG00000005720 uc057fhs.1 AF149045 NM_001031694 "CCDS30688|CCDS53304|CCDS53303|CCDS461|CCDS53302|CCDS53301" Q96GD3 10524249 MGI:1352762 RGD:1305788 616396 HGNC:19003 +HGNC:55675 SCMH1-DT SCMH1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-07-01 2021-07-01 121847982 ENSG00000235358 +HGNC:10580 SCML1 Scm polycomb group protein like 1 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "sex comb on midleg (Drosophila)-like 1|sex comb on midleg like 1 (Drosophila)" Sterile alpha motif domain containing 760 1997-09-05 2017-07-18 2017-07-18 6322 ENSG00000047634 OTTHUMG00000021206 uc004cyc.5 NM_006746 "CCDS35210|CCDS35211|CCDS14182" Q9UN30 9570953 RGD:7723901 300227 HGNC:10580 "ENST00000380041.8|NM_001037540.3" +HGNC:10581 SCML2 Scm polycomb group protein like 2 protein-coding gene gene with protein product Approved Xp22.13 Xp22.13 "sex comb on midleg (Drosophila)-like 2|sex comb on midleg like 2 (Drosophila)" "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 1999-06-17 2017-07-18 2020-04-02 10389 ENSG00000102098 OTTHUMG00000021212 uc004cyl.3 Y18004 NM_006089 CCDS14185 Q9UQR0 10331946 MGI:1340042 RGD:1564289 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SCML2 300208 HGNC:10581 "ENST00000251900.9|NM_006089.3" +HGNC:44329 SCML2P1 SCML2 pseudogene 1 pseudogene pseudogene Approved 18p11.31 18p11.31 2012-08-13 2014-12-17 2014-12-17 100421167 ENSG00000264127 OTTHUMG00000178891 NG_026306 PGOHUM00000234978 HGNC:44329 +HGNC:44330 SCML2P2 SCML2 pseudogene 2 pseudogene pseudogene Approved 16p12.1 16p12.1 2012-08-13 2014-12-17 2017-10-26 100421172 ENSG00000271105 OTTHUMG00000184811 NG_026403 PGOHUM00000293747 HGNC:44330 +HGNC:21397 SCML4 Scm polycomb group protein like 4 protein-coding gene gene with protein product Approved 6q21 06q21 dJ47M23.1 sex comb on midleg like 4 (Drosophila) Sterile alpha motif domain containing 760 2003-06-11 2017-07-18 2018-11-19 256380 ENSG00000146285 OTTHUMG00000015313 uc010kdf.5 NM_198081 "CCDS69163|CCDS75500|CCDS5060" Q8N228 MGI:2446140 RGD:1310898 HGNC:21397 "ENST00000369020.8|NM_198081.5" +HGNC:10585 SCN1A sodium voltage-gated channel alpha subunit 1 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "Nav1.1|GEFSP2|HBSCI|NAC1|SMEI" "SCN1|FEB3" "febrile convulsions 3|sodium channel, voltage-gated, type I, alpha subunit|sodium channel, voltage gated, type I alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1988-11-28 2016-02-05 2021-05-26 6323 ENSG00000144285 OTTHUMG00000044173 uc061peu.1 AB093548 NM_006920 "CCDS54414|CCDS86891|CCDS54413|CCDS33316" P35498 "8062593|16382098|11823106" MGI:98246 RGD:69364 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SCN1A|LRG_8|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_8.xml" 182389 118489 objectId:578 HGNC:10585 "ENST00000674923.1|NM_001165963.4" HGNC:10585 +HGNC:54069 SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.3 02q24.3 Antisense RNAs 1987 2018-09-27 2018-09-27 2018-09-27 2018-09-27 101929680 ENSG00000236107 NR_110260 HGNC:54069 +HGNC:10586 SCN1B sodium voltage-gated channel beta subunit 1 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "sodium channel, voltage-gated, type I, beta polypeptide|sodium channel, voltage-gated, type I, beta|sodium channel, voltage-gated, type I, beta subunit|sodium channel, voltage gated, type I beta subunit" "V-set domain containing|Sodium voltage-gated channel beta subunits" "590|1204" 1990-05-14 2016-02-05 2021-05-26 6324 ENSG00000105711 OTTHUMG00000182472 uc002nxp.4 NM_001037 "CCDS12441|CCDS86744|CCDS46047" Q07699 8394762 MGI:98247 RGD:3631 LRG_420|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_420.xml 600235 118498 HGNC:10586 "ENST00000262631.11|NM_001037.5" HGNC:10586 +HGNC:10588 SCN2A sodium voltage-gated channel alpha subunit 2 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "Nav1.2|HBSCII|HBSCI" "SCN2A1|SCN2A2" "sodium channel, voltage-gated, type II, alpha 2 polypeptide|sodium channel, voltage-gated, type II, alpha 1 polypeptide|sodium channel, voltage-gated, type II, alpha subunit|sodium channel, voltage gated, type II alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1992-08-07 2007-01-23 2016-02-05 2021-05-26 6326 ENSG00000136531 OTTHUMG00000044172 uc061pdo.1 AB208888 NM_021007 "CCDS33313|CCDS33314" Q99250 "1317301|16382098" MGI:98248 RGD:3632 182390 118500 objectId:579 HGNC:10588 "ENST00000375437.7|NM_001040142.2" HGNC:10588 +HGNC:10589 SCN2B sodium voltage-gated channel beta subunit 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "sodium channel, voltage-gated, type II, beta polypeptide|sodium channel, voltage-gated, type II, beta|sodium channel, voltage-gated, type II, beta subunit|sodium channel, voltage gated, type II beta subunit" "V-set domain containing|Sodium voltage-gated channel beta subunits" "590|1204" 1988-11-28 2016-02-05 2021-05-26 6327 ENSG00000149575 OTTHUMG00000048248 uc001psf.3 AY358945 NM_004588 CCDS8390 O60939 10198179 MGI:106921 RGD:3633 601327 361157 HGNC:10589 "ENST00000278947.6|NM_004588.5" HGNC:10589 +HGNC:10590 SCN3A sodium voltage-gated channel alpha subunit 3 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 Nav1.3 "sodium channel, voltage-gated, type III, alpha polypeptide|sodium channel, voltage-gated, type III, alpha subunit|sodium channel, voltage gated, type III alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1992-04-10 2016-02-05 2021-05-26 6328 ENSG00000153253 OTTHUMG00000044171 uc002ucx.4 AF035685 NM_006922 "CCDS46440|CCDS33312" Q9NY46 "9589372|16382098" MGI:98249 RGD:3635 182391 471032 objectId:580 HGNC:10590 "ENST00000283254.12|NM_006922.4" HGNC:10590 +HGNC:20665 SCN3B sodium voltage-gated channel beta subunit 3 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 "HSA243396|SCNB3" "sodium channel, voltage-gated, type III, beta|sodium channel, voltage-gated, type III, beta subunit|sodium channel, voltage gated, type III beta subunit" "V-set domain containing|Sodium voltage-gated channel beta subunits" "590|1204" 2003-03-14 2016-02-05 2021-05-26 55800 ENSG00000166257 OTTHUMG00000166006 uc001pza.2 AJ243396 NM_018400 CCDS8442 Q9NY72 10688874 MGI:1918882 RGD:621657 LRG_421|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_421.xml 608214 218675 HGNC:20665 "ENST00000299333.8|NM_001040151.2" HGNC:20665 +HGNC:10591 SCN4A sodium voltage-gated channel alpha subunit 4 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "Nav1.4|HYPP|SkM1" HYKPP "sodium channel, voltage-gated, type IV, alpha subunit|sodium channel, voltage gated, type IV alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1990-09-30 2016-02-05 2021-05-26 6329 ENSG00000007314 OTTHUMG00000179046 uc060iti.1 U24693 NM_000334 CCDS45761 P35499 "1654742|1659948|16382098" MGI:98250 RGD:3636 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SCN4A 603967 118507 objectId:581 HGNC:10591 "ENST00000435607.3|NM_000334.4" HGNC:10591 +HGNC:10592 SCN4B sodium voltage-gated channel beta subunit 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 LQT10 "sodium channel, voltage-gated, type IV, beta|sodium channel, voltage-gated, type IV, beta subunit|sodium channel, voltage gated, type IV beta subunit" "V-set domain containing|Sodium voltage-gated channel beta subunits" "590|1204" 1990-09-30 2016-02-05 2021-05-26 6330 ENSG00000177098 OTTHUMG00000166994 uc001pse.4 AY149967 NM_001142348 "CCDS8389|CCDS44744" Q8IWT1 MGI:2687406 RGD:631404 "SCN4B database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=SCN4B|LRG_330|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_330.xml" 608256 160018 HGNC:10592 "ENST00000324727.9|NM_174934.4" HGNC:10592 +HGNC:10593 SCN5A sodium voltage-gated channel alpha subunit 5 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "Nav1.5|LQT3|HB1|HBBD|PFHB1|IVF|HB2|HH1|SSS1|CDCD2|CMPD2|ICCD" long QT syndrome 3 CMD1E "sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)|sodium channel, voltage-gated, type V, alpha subunit|sodium channel, voltage gated, type V alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1992-04-10 2016-02-05 2021-05-26 6331 ENSG00000183873 OTTHUMG00000156166 uc062ihi.1 AJ310893 NM_198056 "CCDS54570|CCDS46798|CCDS46796|CCDS54569|CCDS46799|CCDS46797" Q14524 "7842012|15466643|16382098" MGI:98251 RGD:3637 "Gene Connection for the Heart|http://www.fsm.it/cardmoc/|SCN5A database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=SCN5A|LRG_289|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_289.xml" 600163 118513 objectId:582 HGNC:10593 "ENST00000423572.7|NM_000335.5" HGNC:10593 +HGNC:10594 SCN7A sodium voltage-gated channel alpha subunit 7 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "Nav2.1|Nav2.2|NaG" SCN6A "sodium channel, voltage-gated, type VI, alpha|sodium channel, voltage-gated, type VII, alpha|sodium channel, voltage-gated, type VII, alpha subunit|sodium channel, voltage gated, type VII alpha subunit" 1992-04-10 2002-06-14 2016-02-05 2016-10-05 6332 ENSG00000136546 OTTHUMG00000154078 uc061pfq.1 M91556 NM_002976 CCDS46442 Q01118 10198179 MGI:102965 RGD:61922 182392 HGNC:10594 "ENST00000643258.1|NM_002976.4" +HGNC:10596 SCN8A sodium voltage-gated channel alpha subunit 8 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "Nav1.6|NaCh6|PN4|CerIII|CIAT" MED "sodium channel, voltage gated, type VIII, alpha polypeptide|sodium channel, voltage gated, type VIII, alpha subunit|sodium channel, voltage gated, type VIII alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1995-08-23 2016-02-05 2021-05-26 6334 ENSG00000196876 OTTHUMG00000169490 uc001ryw.4 AB027567 NM_014191 "CCDS81692|CCDS44891|CCDS53794" Q9UQD0 "7670495|9828131|16382098" MGI:103169 RGD:3638 LRG_1389|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1389.xml 600702 293928 objectId:583 HGNC:10596 "ENST00000627620.5|NM_001330260.2" HGNC:10596 +HGNC:10597 SCN9A sodium voltage-gated channel alpha subunit 9 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "Nav1.7|PN1|NE-NA|NENA|ETHA" "sodium channel, voltage-gated, type IX, alpha polypeptide|sodium channel, voltage-gated, type IX, alpha subunit|sodium channel, voltage gated, type IX alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1996-04-12 2016-02-05 2021-05-26 6335 ENSG00000169432 OTTHUMG00000154044 uc002udr.2 X82835 NM_002977 CCDS46441 Q15858 "7720699|10198179|16382098" MGI:107636 RGD:69368 LRG_369|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_369.xml 603415 118525 objectId:584 HGNC:10597 "ENST00000642356.2|NM_001365536.1" HGNC:10597 +HGNC:10582 SCN10A sodium voltage-gated channel alpha subunit 10 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "Nav1.8|hPN3|SNS|PN3" "sensory neuron sodium channel|peripheral nerve sodium channel 3" "sodium channel, voltage-gated, type X, alpha polypeptide|sodium channel, voltage-gated, type X, alpha subunit|sodium channel, voltage gated, type X alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1996-04-12 2016-02-05 2021-05-26 6336 ENSG00000185313 OTTHUMG00000048245 uc003ciq.4 AF117907 NM_006514 "CCDS87064|CCDS33736" Q9Y5Y9 "9839820|10198179|16382098" MGI:108029 RGD:3629 604427 325976 objectId:585 HGNC:10582 "ENST00000449082.3|NM_006514.4" HGNC:10582 +HGNC:10583 SCN11A sodium voltage-gated channel alpha subunit 11 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "Nav1.9|NaN|SNS-2" SCN12A "sodium channel, voltage-gated, type XI, alpha polypeptide|sodium channel, voltage-gated, type XII, alpha|sodium channel, voltage-gated, type XI, alpha subunit|sodium channel, voltage gated, type XI alpha subunit" Sodium voltage-gated channel alpha subunits 1203 1998-11-06 2016-02-05 2021-05-26 11280 ENSG00000168356 OTTHUMG00000048246 uc062ihs.1 AF126739 NM_014139 CCDS33737 Q9UI33 "10444332|16382098" MGI:1345149 RGD:3630 604385 328924 objectId:586 HGNC:10583 "ENST00000302328.9|NM_001349253.2" HGNC:10583 +HGNC:23136 SCNM1 sodium channel modifier 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MGC3180 2003-09-16 2015-09-02 79005 ENSG00000163156 OTTHUMG00000012258 uc001ewz.4 BC000264 NM_024041 "CCDS55636|CCDS987" Q9BWG6 12920299 MGI:1341284 RGD:1308968 608095 HGNC:23136 "ENST00000368905.9|NM_024041.4" +HGNC:10599 SCNN1A sodium channel epithelial 1 subunit alpha protein-coding gene gene with protein product Approved 12p13 12p13 ENaCalpha amiloride-sensitive sodium channel subunit alpha SCNN1 sodium channel, non voltage gated 1 alpha subunit Sodium channels epithelial 185 1994-07-12 2019-11-26 2021-05-26 6337 ENSG00000111319 OTTHUMG00000168268 uc001qnx.4 Z92978 NM_001038 "CCDS8543|CCDS53738|CCDS53739" P37088 "7896277|26772908" MGI:101782 RGD:3639 LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SCNN1A 600228 118532 objectId:738 HGNC:10599 "ENST00000228916.7|NM_001038.6" HGNC:10599 +HGNC:10600 SCNN1B sodium channel epithelial 1 subunit beta protein-coding gene gene with protein product Approved 16p12.2-p12.1 16p12.2-p12.1 ENaCbeta "Liddle syndrome|amiloride-sensitive sodium channel subunit beta" sodium channel, non voltage gated 1 beta subunit Sodium channels epithelial 185 1994-12-20 2019-11-26 2021-05-26 6338 ENSG00000168447 OTTHUMG00000131608 uc002dln.3 X87159 NM_000336 CCDS10609 P51168 26772908 MGI:104696 RGD:3640 LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SCNN1B 600760 118536 objectId:739 HGNC:10600 "ENST00000343070.7|NM_000336.3" HGNC:10600 +HGNC:10601 SCNN1D sodium channel epithelial 1 subunit delta protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "ENaCdelta|dNaCh" sodium channel, non voltage gated 1 delta subunit Sodium channels epithelial 185 1997-04-16 2019-11-26 2019-11-26 6339 ENSG00000162572 OTTHUMG00000002081 uc001adt.2 U38254 NM_002978 CCDS44037 P51172 "8661065|26772908" 601328 objectId:740 HGNC:10601 "ENST00000379116.10|NM_001130413.4" +HGNC:10602 SCNN1G sodium channel epithelial 1 subunit gamma protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "ENaCgamma|SCNEG" amiloride-sensitive sodium channel subunit gamma sodium channel, non voltage gated 1 gamma subunit Sodium channels epithelial 185 1995-05-10 2019-11-26 2021-05-26 6340 ENSG00000166828 OTTHUMG00000131609 uc002dlm.2 U48937 NM_001039 CCDS10608 P51170 "7490094|26772908" MGI:104695 RGD:3641 LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SCNN1G 600761 118539 objectId:741 HGNC:10602 "ENST00000300061.3|NM_001039.4" HGNC:10602 +HGNC:10603 SCO1 synthesis of cytochrome C oxidase 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 SCOD1 "SCO (cytochrome oxidase deficient, yeast) homolog 1|SCO cytochrome oxidase deficient homolog 1 (yeast)|SCO1, cytochrome c oxidase assembly protein|SCO cytochrome c oxidase assembly protein 1" Mitochondrial respiratory chain complex assembly factors 645 1998-07-03 2019-10-03 2021-05-26 6341 ENSG00000133028 OTTHUMG00000130364 uc002gmr.5 AF026852 NM_004589 CCDS11158 O75880 9878253 MGI:106362 RGD:1559538 603644 118543 HGNC:10603 "ENST00000255390.10|NM_004589.4" HGNC:10603 +HGNC:10604 SCO2 synthesis of cytochrome C oxidase 2 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 SCO1L MYP6 "SCO (cytochrome oxidase deficient, yeast) homolog 2|SCO cytochrome oxidase deficient homolog 2 (yeast)|myopia 6|SCO2, cytochrome c oxidase assembly protein|SCO cytochrome c oxidase assembly protein 2" Mitochondrial respiratory chain complex assembly factors 645 1999-10-12 2019-10-03 2021-05-26 9997 ENSG00000284194 OTTHUMG00000191637 uc021wsa.2 AL021683 NM_005138 CCDS14095 O43819 "10218584|16091356|23643385" MGI:3818630 604272 118546 HGNC:10604 "ENST00000395693.8|NM_005138.3" HGNC:10604 +HGNC:20335 SCOC short coiled-coil protein protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "HRIHFB2072|SCOCO|UNC-69" short coiled coil protein 2003-01-24 2003-03-19 2016-10-05 60592 ENSG00000153130 OTTHUMG00000133416 uc003iib.2 AK027797 NM_001153446 CCDS3750 Q9UIL1 11303027 MGI:1927654 RGD:1311860 HGNC:20335 "ENST00000608372.6|NM_001153484.2" +HGNC:50601 SCOC-AS1 SCOC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.1 04q31.1 Antisense RNAs 1987 2014-05-22 2014-05-22 100129858 ENSG00000196951 OTTHUMG00000161377 NR_033939 SCOC-AS1 HGNC:50601 +HGNC:20339 SCOCP1 short coiled-coil protein pseudogene 1 pseudogene pseudogene Approved 14q23.1 14q23.1 short coiled coil protein pseudogene 1 2003-01-24 2003-03-19 2014-11-19 317767 ENSG00000258896 OTTHUMG00000171125 NG_011824 PGOHUM00000248193 HGNC:20339 +HGNC:10606 SCP2 sterol carrier protein 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 MicroRNA protein coding host genes 1691 1991-07-24 2016-10-05 6342 ENSG00000116171 OTTHUMG00000008936 uc001cur.3 M75884 NM_002979 "CCDS44149|CCDS81325|CCDS53317|CCDS53318|CCDS30719|CCDS572|CCDS53319|CCDS41338|CCDS44150" P22307 "1703300|1718316" MGI:98254 RGD:3642 184755 165921 HGNC:10606 "ENST00000371514.8|NM_002979.5" HGNC:10606 +HGNC:16211 SCP2D1 SCP2 sterol binding domain containing 1 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "dJ1068E13.2|HSD22" sterol carrier protein 2-like protein C20orf79 "chromosome 20 open reading frame 79|SCP2 sterol-binding domain containing 1" 2001-07-17 2012-10-29 2016-04-06 2020-11-17 140856 ENSG00000132631 OTTHUMG00000031983 uc002wrk.4 AL035563 NM_178483 CCDS13139 Q9UJQ7 16501878 MGI:1913578 RGD:1308385 HGNC:16211 "ENST00000377428.4|NM_178483.3" +HGNC:16210 SCP2D1-AS1 SCP2D1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 dJ1068E13.1 C20orf78 chromosome 20 open reading frame 78 Antisense RNAs 1987 2001-07-17 2019-10-04 2019-10-04 2020-04-20 100128496 ENSG00000149443 OTTHUMG00000031982 uc061vrb.1 AL035563 NR_161342 Q9BR46 11780052 HGNC:16210 +HGNC:29507 SCPEP1 serine carboxypeptidase 1 protein-coding gene gene with protein product Approved 17q22 17q22 RISC retinoid inducible serine carboxypeptidase M14 carboxypeptidases 1321 2004-04-02 2012-09-20 59342 ENSG00000121064 OTTHUMG00000178129 uc002iuv.5 AF282618 NM_021626 CCDS11593 Q9HB40 "11447226|12975309" MGI:1921867 RGD:620067 619723 S10.013 objectId:1585 HGNC:29507 "ENST00000262288.8|NM_021626.3" +HGNC:17036 SCRG1 stimulator of chondrogenesis 1 protein-coding gene gene with protein product Approved 4q34.1 04q34.1 SCRG-1 scrapie responsive gene 1 2009-06-04 2016-10-25 11341 ENSG00000164106 OTTHUMG00000161249 uc003ite.4 AJ224677 NM_007281 CCDS3818 O75711 "9660755|9516475" MGI:1328308 RGD:68377 603163 HGNC:17036 "ENST00000296506.8|NM_007281.4" +HGNC:30377 SCRIB scribble planar cell polarity protein protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KIAA0147|SCRB1|Vartul" scribbled homolog (Drosophila) "PDZ domain containing|Scribble complex|MicroRNA protein coding host genes" "1220|1224|1691" 2004-05-21 2019-01-09 2021-05-26 23513 ENSG00000180900 OTTHUMG00000165154 uc003yzo.1 AY062238 NM_015356 "CCDS6412|CCDS6411" "C0HLS1|Q14160" "11027293|14681682" MGI:2145950 RGD:1565055 607733 471034 HGNC:30377 "ENST00000356994.7|NM_182706.5" HGNC:30377 +HGNC:22192 SCRN1 secernin 1 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 KIAA0193 2004-02-16 2015-09-02 9805 ENSG00000136193 OTTHUMG00000097093 uc011jzz.3 D83777 NM_014766 "CCDS47568|CCDS47567|CCDS5422" Q12765 12221138 MGI:1917188 RGD:1560999 614965 C69.003 HGNC:22192 "ENST00000242059.10|NM_014766.5" +HGNC:30381 SCRN2 secernin 2 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 2004-02-16 2019-08-20 90507 ENSG00000141295 OTTHUMG00000178290 uc002imd.4 BC002980 NM_138355 "CCDS45723|CCDS11519" Q96FV2 12221138 MGI:1343092 RGD:1307741 614966 C69.004 HGNC:30381 "ENST00000290216.14|NM_138355.4" +HGNC:30382 SCRN3 secernin 3 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 FLJ23142 2004-02-16 2016-10-05 79634 ENSG00000144306 OTTHUMG00000132332 uc002uiq.4 AF279776 NM_024583 "CCDS54420|CCDS2258" Q0VDG4 12221138 MGI:1921866 RGD:1305064 614967 C69.005 HGNC:30382 "ENST00000272732.11|NM_024583.5" +HGNC:15950 SCRT1 scratch family transcriptional repressor 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "DKFZp547F072|ZNF898" "scratch (drosophila homolog) 1, zinc finger protein|scratch homolog 1, zinc finger protein (Drosophila)" "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 2001-06-21 2016-05-04 2021-04-27 83482 ENSG00000261678 OTTHUMG00000165229 uc033ccm.1 BC014675 NM_031309 CCDS6421 Q9BWW7 11274425 MGI:2176606 RGD:1306236 605858 HGNC:15950 "ENST00000569446.3|NM_031309.6" +HGNC:15952 SCRT2 scratch family transcriptional repressor 2 protein-coding gene gene with protein product Approved 20p13 20p13 ZNF898B "scratch (drosophila homolog) 2, zinc finger protein|scratch homolog 2, zinc finger protein (Drosophila)" "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 2001-06-21 2016-05-04 2021-04-27 85508 ENSG00000215397 OTTHUMG00000130829 uc002wec.3 NM_033129 CCDS13006 Q9NQ03 11274425 MGI:2139287 RGD:1564796 HGNC:15952 "ENST00000246104.7|NM_033129.4" +HGNC:10607 SCT secretin protein-coding gene gene with protein product Approved 11p15.5 11p15.5 prepro-secretin Neuropeptides 1902 1994-01-27 2014-11-19 6343 ENSG00000070031 OTTHUMG00000133313 uc001lqo.2 AF244355 NM_021920 CCDS7709 P09683 2315322 MGI:99466 RGD:3643 182099 ligandId:3643 HGNC:10607 "ENST00000176195.4|NM_021920.4" +HGNC:10608 SCTR secretin receptor protein-coding gene gene with protein product Approved 2q14.2 02q14.2 Glucagon receptor family 269 1994-01-27 2016-10-05 6344 ENSG00000080293 OTTHUMG00000131407 uc002tma.4 NM_002980 CCDS2127 P47872 1646711 MGI:2441720 RGD:621342 182098 objectId:252 HGNC:10608 "ENST00000019103.8|NM_002980.3" +HGNC:40516 SCTR-AS1 SCTR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.2 02q14.2 Antisense RNAs 1987 2020-03-19 2020-03-19 107105282 ENSG00000231013 OTTHUMG00000153309 NR_147846 +HGNC:13441 SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 signal peptide, CUB domain, EGF-like 1 2002-02-13 2016-01-21 2016-10-05 80274 ENSG00000159307 OTTHUMG00000150679 uc003bdt.3 NM_173050 CCDS14048 Q8IWY4 11087664 MGI:1890616 RGD:1309015 611746 HGNC:13441 "ENST00000360835.9|NM_173050.5" +HGNC:40635 SCUBE1-AS1 SCUBE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Antisense RNAs 1987 2020-03-19 2020-03-19 101927447 ENSG00000203527 OTTHUMG00000150677 NR_134582 +HGNC:40633 SCUBE1-AS2 SCUBE1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Antisense RNAs 1987 2020-03-19 2020-03-19 105373051 ENSG00000236272 OTTHUMG00000150678 NR_134632 +HGNC:30425 SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "Cegf1|Cegb1|FLJ16792" signal peptide, CUB domain, EGF-like 2 MicroRNA protein coding host genes 1691 2004-05-19 2016-01-21 2016-04-25 57758 ENSG00000175356 OTTHUMG00000163880 uc001mhi.3 AK131552 NM_020974 "CCDS81553|CCDS53599|CCDS7797" Q9NQ36 "12270931|11528127" MGI:1928765 RGD:1563998 611747 HGNC:30425 "ENST00000649792.2|NM_001367977.2" +HGNC:13655 SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 protein-coding gene gene with protein product Approved 6p21.3 06p21.3 FLJ34743 CEGF3 "CUB domain and EGF-like repeat containing 3|signal peptide, CUB domain, EGF-like 3" 2003-05-28 2004-05-21 2016-01-21 2019-08-20 222663 ENSG00000146197 OTTHUMG00000014562 uc003okf.2 AF452494.1 NM_152753 CCDS4800 Q8IX30 12270931 MGI:3045253 RGD:1304880 614708 HGNC:13655 "ENST00000274938.8|NM_152753.4" HGNC:13655 +HGNC:32322 SCX scleraxis bHLH transcription factor protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "bHLHa48|bHLHa41" "SCXA|SCXB" "scleraxis homolog A (mouse)|scleraxis homolog B (mouse)|scleraxis homolog (mouse)|scleraxis basic helix-loop-helix transcription factor" Basic helix-loop-helix proteins 420 2005-10-05 2014-06-19 2015-06-16 2018-11-19 642658 ENSG00000260428 OTTHUMG00000175582 NM_001080514 CCDS43779 Q7RTU7 19362560 MGI:102934 RGD:1588254 609067 HGNC:32322 "ENST00000567180.3|NM_001080514.3" +HGNC:34218 SCYGR1 small cysteine and glycine repeat containing 1 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KRTAP28-1 keratin associated protein 28-1 2018-04-20 2018-04-25 112441428 ENSG00000284629 NM_001395402 A0A286YEY9 18721477 +HGNC:34220 SCYGR2 small cysteine and glycine repeat containing 2 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KRTAP28-2 keratin associated protein 28-2 2018-04-20 2018-04-25 112441435 ENSG00000284643 NM_001395403 A0A286YFB4 18721477 +HGNC:34222 SCYGR3 small cysteine and glycine repeat containing 3 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KRTAP28-3 keratin associated protein 28-3 2018-04-20 2018-04-25 112441429 ENSG00000284704 NM_001395404 A0A286YF60 18721477 +HGNC:34223 SCYGR4 small cysteine and glycine repeat containing 4 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KRTAP28-4 keratin associated protein 28-4 2018-04-20 2018-04-25 112441430 ENSG00000284631 NM_001395405 A0A286YEV6 18721477 +HGNC:34224 SCYGR5 small cysteine and glycine repeat containing 5 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KRTAP28-5 keratin associated protein 28-5 2018-04-20 2018-04-25 112441437 ENSG00000284667 NM_001395406 A0A286YF46 18721477 +HGNC:34225 SCYGR6 small cysteine and glycine repeat containing 6 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KRTAP28-6 keratin associated protein 28-6 2018-04-20 2018-04-25 112441431 ENSG00000284725 NM_001395407 A0A286YF77 18721477 +HGNC:34226 SCYGR7 small cysteine and glycine repeat containing 7 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KRTAP28-7 keratin associated protein 28-7 2018-04-20 2018-04-25 112441438 ENSG00000284718 NM_001395408 A0A286YF01 18721477 +HGNC:34227 SCYGR8 small cysteine and glycine repeat containing 8 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 KRTAP28-8 keratin associated protein 28-8 2018-04-20 2018-04-25 112441432 ENSG00000284635 NM_001395409 A0A286YFG1 18721477 +HGNC:34219 SCYGR9 small cysteine and glycine repeat containing 9 (gene/pseudogene) protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "KRTAP28p1|KRTAP28-9" "keratin associated protein 28-9|keratin associated protein 28 family pseudogene 1" 2018-04-20 2020-03-24 117134595 ENSG00000285843 NG_075677 P0DSO2 18721477 +HGNC:34221 SCYGR10 small cysteine and glycine repeat containing 10 (gene/pseudogene) protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "KRTAP28p2|KRTAP28-10" "keratin associated protein 28-910|keratin associated protein 28 family pseudogene 2" 2018-04-20 2018-04-25 112441436 ENSG00000284622 NR_173327 A0A286YEX9 18721477 +HGNC:14372 SCYL1 SCY1 like pseudokinase 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HT019|P105|GKLP|NKTL|TAPK|TRAP|TEIF|MGC78454" "teratoma-associated tyrosine kinase|telomerase transcriptional elements-interacting factor|telomerase regulation-associated protein" NTKL "N-terminal kinase-like|SCY1-like 1 (S. cerevisiae)|SCY1-like, kinase-like 1" "SCY1 like pseudokinases|Armadillo like helical domain containing" "1033|1492" 2001-01-16 2002-11-29 2016-02-26 2016-10-05 57410 ENSG00000142186 OTTHUMG00000166325 uc001oea.2 AF225424 NM_020680 "CCDS44646|CCDS41672" Q96KG9 11118629 MGI:1931787 RGD:1307330 607982 471036 objectId:2195 HGNC:14372 "ENST00000270176.10|NM_020680.4" HGNC:14372 +HGNC:19286 SCYL2 SCY1 like pseudokinase 2 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "KIAA1360|CVAK104" coated vesicle-associated kinase of 104 kDa "SCY1-like 2 (S. cerevisiae)|SCY1-like, kinase-like 2" "SCY1 like pseudokinases|Armadillo like helical domain containing" "1033|1492" 2005-01-20 2016-02-26 2016-02-26 55681 ENSG00000136021 OTTHUMG00000170319 uc001thn.4 AB037781 NM_017988 "CCDS9076|CCDS81726" Q6P3W7 "10718198|15809293|17587408" MGI:1289172 RGD:1305665 616365 objectId:2196 HGNC:19286 "ENST00000360820.7|NM_017988.6" HGNC:19286 +HGNC:54685 SCYL2P1 SCYL2 pseudogene 1 pseudogene pseudogene Approved 2q33.1 02q33.1 2019-11-28 2019-11-28 100420110 ENSG00000213090 NG_023651 +HGNC:19285 SCYL3 SCY1 like pseudokinase 3 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "PACE-1|PACE1" ezrin-binding partner PACE-1 "SCY1-like 3 (S. cerevisiae)|SCY1-like, kinase-like 3" SCY1 like pseudokinases 1033 2005-03-01 2016-02-26 2016-02-26 57147 ENSG00000000457 OTTHUMG00000035941 uc001ggs.5 BC014662 NM_181093 "CCDS1287|CCDS1286" Q8IZE3 12651155 MGI:1921385 RGD:1308992 608192 HGNC:19285 "ENST00000367771.11|NM_020423.7" +HGNC:25537 SDAD1 SDA1 domain containing 1 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 FLJ10498 Armadillo like helical domain containing 1492 2004-04-05 2016-10-05 55153 ENSG00000198301 OTTHUMG00000130111 uc003hje.6 AF132198 NM_018115 "CCDS75147|CCDS3573" Q9NVU7 11483580 MGI:2140779 RGD:1359112 HGNC:25537 "ENST00000356260.10|NM_018115.4" +HGNC:41106 SDAD1-AS1 SDAD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.1 04q21.1 Antisense RNAs 1987 2020-03-19 2020-03-19 101928809 ENSG00000245928 OTTHUMG00000160886 NR_125906 +HGNC:31403 SDAD1P1 SDA1 domain containing 1 pseudogene 1 pseudogene pseudogene Approved 8p21.2 08p21.2 2004-04-05 2010-11-24 157489 ENSG00000228451 OTTHUMG00000163945 NG_006994 PGOHUM00000250004 HGNC:31403 +HGNC:31404 SDAD1P2 SDA1 domain containing 1 pseudogene 2 pseudogene pseudogene Approved 20p12.2 20p12.2 2004-04-05 2020-04-20 400836 ENSG00000230750 OTTHUMG00000031870 NG_021986 PGOHUM00000247591 HGNC:31404 +HGNC:39260 SDAD1P3 SDA1 domain containing 1 pseudogene 3 pseudogene pseudogene Approved 3p22.3 03p22.3 2010-11-24 2010-11-24 100873858 ENSG00000227707 OTTHUMG00000155868 NG_032239 PGOHUM00000237990 HGNC:39260 +HGNC:39261 SDAD1P4 SDA1 domain containing 1 pseudogene 4 pseudogene pseudogene Approved 13q12.12 13q12.12 2010-11-24 2010-11-24 100419955 ENSG00000236803 OTTHUMG00000016561 NG_024899 PGOHUM00000248530 HGNC:39261 +HGNC:10658 SDC1 syndecan 1 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "CD138|syndecan|SYND1" syndecan proteoglycan 1 SDC "CD molecules|Syndecans" "471|571" 1991-03-18 2014-11-19 6382 ENSG00000115884 OTTHUMG00000090751 uc002rdp.2 AJ551176 NM_001006946 CCDS1697 P18827 MGI:1349162 RGD:3648 186355 CD138 HGNC:10658 "ENST00000254351.9|NM_002997.5" +HGNC:10659 SDC2 syndecan 2 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "fibroglycan|SYND2|CD362" syndecan proteoglycan 2 "HSPG|HSPG1" heparan sulfate proteoglycan 1, cell surface-associated "CD molecules|Syndecans" "471|571" 1989-06-30 2007-02-15 2016-10-05 6383 ENSG00000169439 OTTHUMG00000164689 uc003yhv.2 BC030133 NM_002998 CCDS6272 P34741 8187643 MGI:1349165 RGD:3649 142460 HGNC:10659 "ENST00000302190.9|NM_002998.4" +HGNC:10660 SDC3 syndecan 3 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "N-syndecan|SYND3" syndecan proteoglycan 3 syndecan 3 (N-syndecan) Syndecans 571 1994-05-16 2007-02-15 2014-11-19 9672 ENSG00000162512 OTTHUMG00000043646 uc001bse.3 AF248634 NM_014654 CCDS30661 O75056 "1556152|11527150" MGI:1349163 RGD:621486 186357 HGNC:10660 "ENST00000339394.7|NM_014654.4" +HGNC:10661 SDC4 syndecan 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "SYND4|amphiglycan|ryudocan" syndecan proteoglycan 4 syndecan 4 (amphiglycan, ryudocan) Syndecans 571 1994-05-17 2007-02-15 2016-10-05 6385 ENSG00000124145 OTTHUMG00000033083 uc002xnu.4 "X67016|D13292" NM_002999 CCDS13350 P31431 "7916598|1500433" MGI:1349164 RGD:3650 SDC4 600017 HGNC:10661 "ENST00000372733.3|NM_002999.4" +HGNC:18903 SDC4P syndecan 4 pseudogene pseudogene pseudogene Approved 22q12.2 22q12.2 2002-07-22 2014-11-19 376844 ENSG00000214161 OTTHUMG00000151266 AF520746 NR_001580 12652906 HGNC:18903 +HGNC:10662 SDCBP syndecan binding protein protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "SYCL|MDA-9" "syntenin|syntenin-1" PDZ domain containing 1220 1998-02-11 2015-11-09 2015-12-16 6386 ENSG00000137575 OTTHUMG00000164303 uc003xtn.3 AF000652 NM_005625 "CCDS47863|CCDS83298|CCDS47862|CCDS6172|CCDS87610" O00560 9391086 MGI:1337026 RGD:621497 602217 HGNC:10662 "ENST00000260130.9|NM_005625.4" +HGNC:15756 SDCBP2 syndecan binding protein 2 protein-coding gene gene with protein product Approved 20p13 20p13 "ST-2|SITAC18" syntenin-2 syndecan binding protein (syntenin) 2 PDZ domain containing 1220 2001-09-17 2015-12-16 2015-12-16 27111 ENSG00000125775 OTTHUMG00000031661 uc002wev.5 AF131809 NM_080489 "CCDS42848|CCDS13013" Q9H190 11152476 MGI:2385156 RGD:1307709 617358 HGNC:15756 "ENST00000360779.4|NM_080489.5" +HGNC:44314 SDCBP2-AS1 SDCBP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 SDCBP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-09 2012-08-15 2021-07-21 100507495 ENSG00000234684 OTTHUMG00000031671 uc002wex.4 "BC034773|DA094549|DA274215|DB454162" NR_040047 34218800 SDCBP2-AS1 HGNC:44314 +HGNC:44685 SDCBP2P1 syndecan binding protein 2 pseudogene 1 pseudogene pseudogene Approved 6q13 06q13 syndecan binding protein (syntenin) 2 pseudogene 1 2012-12-04 2016-06-27 2016-06-27 106480801 ENSG00000223389 OTTHUMG00000015027 NG_044176 PGOHUM00000301851 HGNC:44685 +HGNC:44684 SDCBPP1 syndecan binding protein pseudogene 1 pseudogene pseudogene Approved 10p15.1 10p15.1 syndecan binding protein (syntenin) pseudogene 1 2012-12-04 2016-06-27 2016-06-27 100128930 ENSG00000226705 OTTHUMG00000017620 NG_011666 PGOHUM00000289733 HGNC:44684 +HGNC:44686 SDCBPP2 syndecan binding protein pseudogene 2 pseudogene pseudogene Approved 8q13.3 08q13.3 syndecan binding protein (syntenin) pseudogene 2 2012-12-04 2016-06-27 2016-06-27 100129960 ENSG00000247570 OTTHUMG00000160524 NG_030275 PGOHUM00000303587 HGNC:44686 +HGNC:44687 SDCBPP3 syndecan binding protein pseudogene 3 pseudogene pseudogene Approved Xp11.4 Xp11.4 syndecan binding protein (syntenin) pseudogene 3 2012-12-04 2016-06-27 2016-06-27 100131656 ENSG00000232801 OTTHUMG00000024113 NG_022592 PGOHUM00000304563 HGNC:44687 +HGNC:10671 SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 protein-coding gene gene with protein product Approved 1q43-q44 01q43-q44 "NY-CO-8|CCCAP|SLSN7|NPHP10|BBS16" "centrosomal colon cancer autoantigen protein|Bardet-Biedl syndrome 16|nephrocystin 10|Senior-Loken syndrome 7" serologically defined colon cancer antigen 8 MicroRNA protein coding host genes 1691 1999-08-25 2020-01-22 2021-05-26 10806 ENSG00000054282 OTTHUMG00000039996 uc001hzw.4 AF039690 NM_006642 CCDS31075 Q86SQ7 "9610721|20835237|27224062" MGI:1924066 RGD:727781 613524 244364 HGNC:10671 "ENST00000366541.8|NM_006642.5" HGNC:10671 +HGNC:26643 SDE2 SDE2 telomere maintenance homolog protein-coding gene gene with protein product Approved 1q42.12 01q42.12 FLJ35382 C1orf55 "chromosome 1 open reading frame 55|SDE2 telomere maintenance homolog (S. pombe)" "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2005-04-22 2012-06-26 2016-04-05 2016-04-05 163859 ENSG00000143751 OTTHUMG00000037504 uc001hpu.5 BC071563 NM_152608 CCDS41473 Q6IQ49 21333630 MGI:2384788 RGD:1305572 HGNC:26643 "ENST00000272091.8|NM_152608.4" +HGNC:10675 SDF2 stromal cell derived factor 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 stromal cell-derived factor 2 1997-09-12 2016-01-18 2016-01-18 6388 ENSG00000132581 OTTHUMG00000132681 uc002hbw.4 BC001406 NM_006923 CCDS11238 Q99470 8918255 MGI:108019 RGD:1307274 602934 HGNC:10675 "ENST00000247020.9|NM_006923.4" +HGNC:10676 SDF2L1 stromal cell derived factor 2 like 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "AP000553.C22.4|OTTHUMT00000075032" "dihydropyrimidinase-like 2|PWP1-interacting protein 8" stromal cell-derived factor 2-like 1 1999-10-29 2016-01-18 2020-05-13 23753 ENSG00000128228 OTTHUMG00000150820 uc002zvf.4 NM_022044 CCDS13792 Q9HCN8 "10591208|11162531|31624144" MGI:2149842 RGD:1585844 607551 HGNC:10676 "ENST00000248958.5|NM_022044.3" +HGNC:24188 SDF4 stromal cell derived factor 4 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 Cab45 calcium binding protein CREC family 2042 2005-05-24 2014-11-19 51150 ENSG00000078808 OTTHUMG00000001812 uc001adi.5 NM_016176 "CCDS12|CCDS30553" Q9BRK5 "9254016|8609160" MGI:108079 RGD:621521 614282 HGNC:24188 "ENST00000360001.12|NM_016176.6" +HGNC:10680 SDHA succinate dehydrogenase complex flavoprotein subunit A protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FP|SDHF" "succinate dehydrogenase [ubiquinone] flavoprotein subunit|flavoprotein subunit of complex II" SDH2 "succinate dehydrogenase complex, subunit A, flavoprotein (Fp)|succinate dehydrogenase complex subunit A, flavoprotein (Fp)" Mitochondrial complex II: succinate dehydrogenase subunits 641 1995-10-24 2016-01-28 2021-05-26 6389 ENSG00000073578 OTTHUMG00000090275 uc003jao.5 BC001380 NM_004168 "CCDS77992|CCDS3853|CCDS82985" P31040 7798181 MGI:1914195 RGD:621557 "SDHA @ LOVD|http://www.LOVD.nl/SDHA|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHA|LRG_315|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_315.xml" SDHA 600857 118549 HGNC:10680 "ENST00000264932.11|NM_004168.4" HGNC:10680 +HGNC:33867 SDHAF1 succinate dehydrogenase complex assembly factor 1 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 LYRM8 LYR motif containing 8 "LYR motif containing|Mitochondrial respiratory chain complex assembly factors" "635|645" 2009-05-27 2021-05-26 644096 ENSG00000205138 OTTHUMG00000181745 uc002ocp.4 NM_001042631 CCDS32999 A6NFY7 19465911 MGI:1915582 RGD:1562079 612848 201507 HGNC:33867 "ENST00000378887.4|NM_001042631.3" HGNC:33867 +HGNC:26034 SDHAF2 succinate dehydrogenase complex assembly factor 2 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "FLJ20487|SDH5" "PGL2|C11orf79" "paraganglioma or familial glomus tumors 2|chromosome 11 open reading frame 79" Mitochondrial respiratory chain complex assembly factors 645 2007-02-02 2009-08-10 2009-08-10 2021-05-26 54949 ENSG00000167985 OTTHUMG00000168279 uc001nrt.4 AK000494 NM_017841 CCDS8007 Q9NX18 19628817 MGI:1913322 RGD:1309216 LRG_519|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_519.xml SDHAF2 613019 209279 HGNC:26034 "ENST00000301761.7|NM_017841.4" HGNC:26034 +HGNC:21752 SDHAF3 succinate dehydrogenase complex assembly factor 3 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "DC11|Sdh7|LYRM10" ACN9 ACN9 homolog (S. cerevisiae) "LYR motif containing|Mitochondrial respiratory chain complex assembly factors" "635|645" 2003-07-23 2015-02-27 2015-02-27 2016-10-05 57001 ENSG00000196636 OTTHUMG00000154064 BC028409 NM_020186 CCDS5648 Q9NRP4 24954417 MGI:1913288 RGD:1305143 615773 HGNC:21752 "ENST00000432641.3|NM_020186.3" +HGNC:20957 SDHAF4 succinate dehydrogenase complex assembly factor 4 protein-coding gene gene with protein product Approved 6q13 06q13 Sdh8 C6orf57 chromosome 6 open reading frame 57 Mitochondrial respiratory chain complex assembly factors 645 2003-04-24 2015-02-27 2015-02-27 2016-10-05 135154 ENSG00000154079 OTTHUMG00000014992 BC018085 NM_145267 CCDS4972 Q5VUM1 24954416 MGI:1915252 RGD:1588998 619198 HGNC:20957 "ENST00000370474.4|NM_145267.3" +HGNC:32455 SDHAP1 SDHA pseudogene 1 pseudogene pseudogene Approved 3q29 03q29 "SDHAL1|SDHALP1" "succinate dehydrogenase complex, subunit A, flavoprotein-like 1|succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1|succinate dehydrogenase complex subunit A, flavoprotein pseudogene 1|succinate dehydrogenase complex flavoprotein subunit A pseudogene 1" 2006-01-16 2009-12-02 2021-07-23 2021-07-23 255812 ENSG00000185485 OTTHUMG00000155716 BC071730 NR_003264 32211849 HGNC:32455 +HGNC:27408 SDHAP2 SDHA pseudogene 2 pseudogene pseudogene Approved 3q29 03q29 "SDHAL2|SDHALP2" "succinate dehydrogenase complex, subunit A, flavoprotein-like 2|succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2|succinate dehydrogenase complex subunit A, flavoprotein pseudogene 2|succinate dehydrogenase complex flavoprotein subunit A pseudogene 2" 2004-07-29 2009-12-02 2021-07-23 2021-07-23 727956 ENSG00000215837 OTTHUMG00000155835 AK074764 NR_003265 14702039 HGNC:27408 +HGNC:18781 SDHAP3 SDHA pseudogene 3 pseudogene pseudogene Approved 5p15.33 05p15.33 similar to succinate dehydrogenase flavoprotein subunit "SDHAL|SDHACL" "succinate dehydrogenase complex, subunit A, flavoprotein-like|SDHA C-terminal like|succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3|succinate dehydrogenase complex subunit A, flavoprotein pseudogene 3|succinate dehydrogenase complex flavoprotein subunit A pseudogene 3" 2004-03-26 2006-11-21 2021-07-23 2021-07-23 728609 ENSG00000185986 OTTHUMG00000161733 NR_003263 PGOHUM00000251283 HGNC:18781 +HGNC:55782 SDHAP4 SDHA pseudogene 4 pseudogene pseudogene Approved 3q29 03q29 2021-07-23 2021-07-23 220729 ENSG00000214135 NR_003266 +HGNC:10681 SDHB succinate dehydrogenase complex iron sulfur subunit B protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "iron-sulfur subunit of complex II|succinate dehydrogenase [ubiquinone] iron-sulfur subunit" "SDH1|SDH" "succinate dehydrogenase complex, subunit B, iron sulfur (Ip)|succinate dehydrogenase complex subunit B, iron sulfur (Ip)" Mitochondrial complex II: succinate dehydrogenase subunits 641 2001-06-22 2016-01-28 2021-05-26 6390 ENSG00000117118 OTTHUMG00000002289 uc001bae.5 U17248 NM_003000 CCDS176 P21912 MGI:1914930 RGD:1308598 "SDHB @ LOVD|http://www.LOVD.nl/SDHB|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHB|LRG_316|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_316.xml" SDHB 185470 118554 1.3.99.1 HGNC:10681 "ENST00000375499.8|NM_003000.3" HGNC:10681 +HGNC:10682 SDHC succinate dehydrogenase complex subunit C protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CYB560|cybL" "succinate dehydrogenase cytochrome b560 subunit|succinate dehydrgenase cytochrome b|large subunit of cytochrome b" PGL3 "succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD|succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa" Mitochondrial complex II: succinate dehydrogenase subunits 641 1997-10-21 2015-11-09 2021-05-26 6391 ENSG00000143252 OTTHUMG00000034468 uc001gag.4 D49737 NM_003001 "CCDS44263|CCDS41431|CCDS1230|CCDS60330|CCDS41432" Q99643 "9533030|12658451" MGI:1913302 RGD:1359454 "SDHC @ LOVD|http://www.LOVD.nl/SDHC|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHC|LRG_317|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_317.xml" SDHC 602413 118558 HGNC:10682 "ENST00000367975.7|NM_003001.5" HGNC:10682 +HGNC:31734 SDHCP1 succinate dehydrogenase complex subunit C pseudogene 1 pseudogene pseudogene Approved 18q22.1 18q22.1 succinate dehydrogenase complex, subunit C pseudogene 1 2010-06-17 2015-11-12 2017-10-26 100422600 ENSG00000264444 OTTHUMG00000178552 NG_026341 PGOHUM00000294817 HGNC:31734 +HGNC:45177 SDHCP2 succinate dehydrogenase complex subunit C pseudogene 2 pseudogene pseudogene Approved 10q23.32 10q23.32 succinate dehydrogenase complex, subunit C pseudogene 2 2013-03-04 2015-11-12 2015-11-12 100128302 ENSG00000214549 OTTHUMG00000018753 NG_029201 PGOHUM00000238889 HGNC:45177 +HGNC:45178 SDHCP3 succinate dehydrogenase complex subunit C pseudogene 3 pseudogene pseudogene Approved 2p23.3 02p23.3 succinate dehydrogenase complex, subunit C pseudogene 3 2013-03-04 2015-11-12 2015-11-12 100422591 ENSG00000234946 OTTHUMG00000151897 NG_023680 PGOHUM00000240597 HGNC:45178 +HGNC:45179 SDHCP4 succinate dehydrogenase complex subunit C pseudogene 4 pseudogene pseudogene Approved 11p15.1 11p15.1 succinate dehydrogenase complex, subunit C pseudogene 4 2013-03-04 2015-11-12 2015-11-12 100422598 ENSG00000255035 OTTHUMG00000166317 NG_024319 PGOHUM00000242179 HGNC:45179 +HGNC:10683 SDHD succinate dehydrogenase complex subunit D protein-coding gene gene with protein product Approved 11q23.1 11q23.1 cybS small subunit of cytochrome b "PGL|PGL1" succinate dehydrogenase complex, subunit D, integral membrane protein Mitochondrial complex II: succinate dehydrogenase subunits 641 1997-10-21 2016-01-28 2021-05-26 6392 ENSG00000204370 OTTHUMG00000166997 uc001pmz.5 AB006202 NM_003002 "CCDS60960|CCDS31678|CCDS60958|CCDS60959" O14521 "9533030|1301144" MGI:1914175 RGD:735231 "SDHD @ LOVD|http://www.LOVD.nl/SDHD|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHD|LRG_9|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_9.xml" SDHD 602690 118561 HGNC:10683 "ENST00000375549.8|NM_003002.4" HGNC:10683 +HGNC:10684 SDHDP1 succinate dehydrogenase complex subunit D pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 "succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 1|succinate dehydrogenase complex subunit D, integral membrane protein pseudogene 1" 2000-02-09 2016-01-28 2020-04-20 100289186 ENSG00000267162 OTTHUMG00000180685 NG_030063 10482792 PGOHUM00000234863 HGNC:10684 +HGNC:10685 SDHDP2 succinate dehydrogenase complex subunit D pseudogene 2 pseudogene pseudogene Approved 7q33 07q33 "succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 2|succinate dehydrogenase complex subunit D, integral membrane protein pseudogene 2" 2000-02-09 2016-01-28 2016-10-05 647081 ENSG00000227073 OTTHUMG00000155494 NG_009407 10482792 PGOHUM00000233578 HGNC:10685 +HGNC:10686 SDHDP3 succinate dehydrogenase complex subunit D pseudogene 3 pseudogene pseudogene Approved 3q26.2 03q26.2 "succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 3|succinate dehydrogenase complex subunit D, integral membrane protein pseudogene 3" 2000-02-09 2016-01-28 2020-04-06 29771 ENSG00000244381 OTTHUMG00000158630 NG_005647 10482792 PGOHUM00000299663 HGNC:10686 +HGNC:10687 SDHDP4 succinate dehydrogenase complex subunit D pseudogene 4 pseudogene pseudogene Approved 3p21.31 03p21.31 "succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 4|succinate dehydrogenase complex subunit D, integral membrane protein pseudogene 4" 2000-02-09 2016-01-28 2020-04-06 29770 ENSG00000236930 OTTHUMG00000156563 NG_029472 10482792 PGOHUM00000299019 HGNC:10687 +HGNC:10688 SDHDP5 succinate dehydrogenase complex subunit D pseudogene 5 pseudogene pseudogene Approved 2q31.2 02q31.2 "succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 5|succinate dehydrogenase complex subunit D, integral membrane protein pseudogene 5" 2000-02-09 2016-01-28 2020-01-08 29769 ENSG00000229744 NG_012168 10482792 HGNC:10688 +HGNC:10689 SDHDP6 succinate dehydrogenase complex subunit D pseudogene 6 pseudogene pseudogene Approved 1p36.11 01p36.11 "succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 6|succinate dehydrogenase complex subunit D, integral membrane protein pseudogene 6" 2000-02-09 2016-01-28 2020-04-20 29768 ENSG00000224183 OTTHUMG00000003481 NG_007494 10482792 HGNC:10689 +HGNC:31410 SDHDP7 succinate dehydrogenase complex subunit D pseudogene 7 pseudogene pseudogene Approved 1p36.1 01p36.1 "succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 7|succinate dehydrogenase complex subunit D, integral membrane protein pseudogene 7" 2004-04-14 2016-01-28 2016-01-28 388606 XM_371232 HGNC:31410 +HGNC:38749 SDIM1 stress responsive DNAJB4 interacting membrane protein 1 protein-coding gene gene with protein product Approved 6q27 06q27 2011-01-31 2018-11-22 100505705 AK129633 Q6ZPB5 21255413 +HGNC:19307 SDK1 sidekick cell adhesion molecule 1 protein-coding gene gene with protein product Approved 7p22.2 07p22.2 FLJ31425 "sidekick homolog 1 (chicken)|sidekick homolog 1, cell adhesion molecule (chicken)" "Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "555|593|1410" 2002-11-08 2011-12-09 2020-04-20 221935 ENSG00000146555 OTTHUMG00000151733 uc003smx.4 AK074077 NM_152744 CCDS34590 Q7Z5N4 "12230981|17307840|15213259" MGI:2444413 RGD:1560686 607216 HGNC:19307 "ENST00000404826.7|NM_152744.4" +HGNC:40883 SDK1-AS1 SDK1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p22.2 07p22.2 Antisense RNAs 1987 2020-03-19 2020-03-19 2020-03-19 2020-03-19 105375132 ENSG00000236708 OTTHUMG00000151736 XR_001744897 +HGNC:19308 SDK2 sidekick cell adhesion molecule 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ10832|KIAA1514" sidekick homolog 2 (chicken) "Fibronectin type III domain containing|I-set domain containing" "555|593" 2002-11-08 2011-12-09 2016-10-05 54549 ENSG00000069188 OTTHUMG00000152726 uc010dfm.4 AB040947 NM_019064 CCDS45769 Q58EX2 "12230981|15213259" MGI:2443847 RGD:1310397 607217 HGNC:19308 "ENST00000392650.8|NM_001144952.2" HGNC:19308 +HGNC:29958 SDR9C7 short chain dehydrogenase/reductase family 9C member 7 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "SDR-O|RDHS" short chain dehydrogenase/reductase family 9C, member 7 Short chain dehydrogenase/reductase superfamily 743 2008-12-22 2016-12-12 2016-12-12 121214 ENSG00000170426 OTTHUMG00000171004 uc010sqw.2 AY044434 NM_148897 CCDS8926 Q8NEX9 "12234675|19027726" MGI:1917311 RGD:628716 609769 1.1.1.- HGNC:29958 "ENST00000293502.2|NM_148897.3" HGNC:29958 +HGNC:30311 SDR16C5 short chain dehydrogenase/reductase family 16C member 5 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "RDHE2|RDH-E2|EPHD-2" Epidermal retinol dehydrogenase 2 short chain dehydrogenase/reductase family 16C, member 5 Short chain dehydrogenase/reductase superfamily 743 2008-12-23 2016-12-12 2016-12-12 195814 ENSG00000170786 OTTHUMG00000164311 uc003xsy.2 NM_138969 "CCDS6167|CCDS83295|CCDS83296" Q8N3Y7 12372410 MGI:2668443 RGD:1565999 608989 1.1.1.105 HGNC:30311 "ENST00000303749.8|NM_138969.4" +HGNC:35413 SDR16C6P short chain dehydrogenase/reductase family 16C member 6, pseudogene pseudogene pseudogene Approved 8q12.1 08q12.1 SDR16C6 "short chain dehydrogenase/reductase family 16C, member 6|short chain dehydrogenase/reductase family 16C, member 6, pseudogene" Short chain dehydrogenase/reductase superfamily 743 2008-12-08 2010-12-20 2016-12-12 2016-12-12 442388 ENSG00000253542 OTTHUMG00000164408 NR_103832 19027726 MGI:2685269 HGNC:35413 +HGNC:20275 SDR39U1 short chain dehydrogenase/reductase family 39U member 1 protein-coding gene gene with protein product Approved 14q12 14q12 HCDI C14orf124 chromosome 14 open reading frame 124 Short chain dehydrogenase/reductase superfamily 743 2003-01-17 2008-12-08 2016-01-20 2016-01-20 56948 ENSG00000100445 OTTHUMG00000171316 uc001wpm.4 AF226050 NM_001290292 "CCDS76665|CCDS73626|CCDS45091" Q9NRG7 19027726 MGI:1916876 RGD:1309307 616162 HGNC:20275 "ENST00000399395.8|NM_020195.3" +HGNC:29834 SDR42E1 short chain dehydrogenase/reductase family 42E, member 1 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 HSPC105 Short chain dehydrogenase/reductase superfamily 743 2008-12-08 2015-08-25 93517 ENSG00000184860 OTTHUMG00000166148 uc002fgu.4 AF161368 NM_145168 CCDS42205 Q8WUS8 19027726 MGI:1921282 RGD:1308481 616164 1.1.1.- HGNC:29834 "ENST00000328945.7|NM_145168.3" +HGNC:50378 SDR42E1P1 short chain dehydrogenase/reductase family 42E, member 1 pseudogene 1 pseudogene pseudogene Approved 9p12 09p12 2014-04-24 2016-10-05 100422340 ENSG00000273994 OTTHUMG00000067164 NG_023810 PGOHUM00000303805 HGNC:50378 +HGNC:51833 SDR42E1P2 short chain dehydrogenase/reductase family 42E, member 1 pseudogene 2 pseudogene pseudogene Approved 9p11.1 09p11.1 2015-07-30 2015-07-31 100422346 ENSG00000277213 OTTHUMG00000189110 NG_023911 PGOHUM00000303834 HGNC:51833 +HGNC:51834 SDR42E1P3 short chain dehydrogenase/reductase family 42E, member 1 pseudogene 3 pseudogene pseudogene Approved 9q13 09q13 2015-07-30 2015-07-31 100422347 ENSG00000234276 OTTHUMG00000013193 NG_023914 PGOHUM00000304249 HGNC:51834 +HGNC:51835 SDR42E1P4 short chain dehydrogenase/reductase family 42E, member 1 pseudogene 4 pseudogene pseudogene Approved 9q21.11 09q21.11 2015-07-30 2015-07-31 100422348 ENSG00000273849 OTTHUMG00000188567 NG_023917 PGOHUM00000304301 HGNC:51835 +HGNC:51832 SDR42E1P5 short chain dehydrogenase/reductase family 42E, member 1 pseudogene 5 pseudogene pseudogene Approved 2q12.1 02q12.1 2015-07-30 2015-07-31 100422339 ENSG00000236785 OTTHUMG00000153095 NG_023715 PGOHUM00000298595 HGNC:51832 +HGNC:35414 SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 Short chain dehydrogenase/reductase superfamily 743 2008-12-08 2020-04-20 100288072 ENSG00000183921 OTTHUMG00000183976 uc059ryf.1 NM_001365288 A6NKP2 19027726 RGD:6504299 1.1.1.- HGNC:35414 "ENST00000602312.3|NM_001394319.2" +HGNC:10691 SDS serine dehydratase protein-coding gene gene with protein product Approved 12q24.13 12q24.13 SDH L-serine ammonia-lyase 1999-08-20 2015-08-25 10993 ENSG00000135094 OTTHUMG00000169554 uc001tvg.4 J05037 NM_006843 CCDS9169 P20132 2674117 MGI:98270 RGD:67376 182128 4.3.1.17 HGNC:10691 "ENST00000257549.9|NM_006843.3" +HGNC:30404 SDSL serine dehydratase like protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "SDS-RS1|cSDH" serine dehydratase-like 2004-02-16 2016-03-11 2016-03-11 113675 ENSG00000139410 OTTHUMG00000169551 uc009zwh.4 AF134473 NM_138432 CCDS9170 Q96GA7 16580895 MGI:2182607 RGD:1309192 HGNC:30404 "ENST00000403593.9|NM_001304993.2" +HGNC:32942 SEBOX SEBOX homeobox protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "OG9|OG9X" PRD class homeoboxes and pseudogenes 521 2007-07-26 2016-04-25 645832 ENSG00000274529 OTTHUMG00000171160 uc060cxq.1 NM_001080837 CCDS45634 Q9HB31 10922053 MGI:108012 RGD:62077 610975 8509 HGNC:32942 "ENST00000536498.6|NM_001080837.4" +HGNC:44149 SEC1P secretory blood group 1, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 2012-06-30 2012-07-04 653677 ENSG00000232871 OTTHUMG00000154617 NR_004401 MGI:1928893 HGNC:44149 +HGNC:17718 SEC11A SEC11 homolog A, signal peptidase complex subunit protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "SPC18|sid2895|SPCS4A" signal peptidase complex 18 SEC11L1 "SEC11-like 1 (S. cerevisiae)|SEC11 homolog A (S. cerevisiae)" 2005-01-05 2006-11-07 2015-07-23 2020-04-01 23478 ENSG00000140612 OTTHUMG00000172489 uc002blb.3 AF061737 NM_014300 "CCDS45340|CCDS73776|CCDS61744|CCDS61742|CCDS61743" P67812 "2188978|23995782" MGI:1929464 RGD:69360 618258 S26.009 HGNC:17718 "ENST00000268220.12|NM_014300.4" +HGNC:31884 SEC11B SEC11 homolog B, signal peptidase complex subunit (pseudogene) pseudogene pseudogene Approved 8q11.23 08q11.23 SPCS4B SEC11L2 "SEC11-like 2 (S. cerevisiae)|SEC11 homolog B (S. cerevisiae)|SEC11 homolog B, pseudogene (S. cerevisiae)" 2005-01-05 2006-11-07 2016-01-06 2016-01-06 157708 ENSG00000226098 OTTHUMG00000164378 NG_008902 P0C7V7 PGOHUM00000262016 HGNC:31884 +HGNC:23400 SEC11C SEC11 homolog C, signal peptidase complex subunit protein-coding gene gene with protein product Approved 18q21.32 18q21.32 "SPC21|SPCS4C" signal peptidase complex 21 SEC11L3 "SEC11-like 3 (S. cerevisiae)|SEC11 homolog C (S. cerevisiae)" 2005-01-05 2006-11-07 2015-07-23 2015-07-23 90701 ENSG00000166562 OTTHUMG00000132762 uc002lht.4 AF212233 NM_033280 "CCDS77193|CCDS11970" Q9BY50 "2188978|23995782" MGI:1913536 RGD:628665 HGNC:23400 "ENST00000587834.6|NM_033280.4" +HGNC:10697 SEC13 SEC13 homolog, nuclear pore and COPII coat complex component protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "SEC13R|npp-20" "D3S1231E|SEC13L1" "SEC13 (S. cerevisiae)-like 1|SEC13-like 1 (S. cerevisiae)|SEC13 homolog (S. cerevisiae)" "WD repeat domain containing|Nucleoporins|GATOR2 subcomplex|COPII coat complex" "362|1051|1395|1960" 1994-12-15 2006-11-07 2015-08-05 2016-10-05 6396 ENSG00000157020 OTTHUMG00000128671 uc003bvn.5 NM_001136026 "CCDS46751|CCDS2599|CCDS63540" P55735 "7987303|15146057|18692470" MGI:99832 RGD:1359555 600152 HGNC:10697 "ENST00000350697.8|NM_183352.3" +HGNC:44529 SEC13P1 SEC13 homolog, nuclear pore and COPII coat complex component pseudogene 1 pseudogene pseudogene Approved 3p22.3 03p22.3 SEC13 homolog (S. cerevisiae) pseudogene 1 2012-11-14 2015-08-05 2015-08-05 100131671 ENSG00000223899 OTTHUMG00000155780 NG_022244 PGOHUM00000237987 HGNC:44529 +HGNC:10698 SEC14L1 SEC14 like lipid binding 1 protein-coding gene gene with protein product Approved 17q25.2-q25.3 17q25.2-q25.3 PRELID4A SEC14L "SEC14 (S. cerevisiae)-like 1|SEC14-like 1 (S. cerevisiae)|SEC14-like lipid binding 1" "SEC14 family|PRELI domain containing" "1063|1295" 1996-03-12 2016-01-18 2018-02-13 6397 ENSG00000129657 OTTHUMG00000177311 uc021udx.2 D67029 NM_003003 "CCDS11752|CCDS45789|CCDS42385" Q92503 "8697811|17092608|17428729|23843640" MGI:1921386 RGD:1563123 601504 HGNC:10698 "ENST00000436233.9|NM_001143998.2" +HGNC:44189 SEC14L1P1 SEC14 like 1 pseudogene 1 pseudogene pseudogene Approved 11p11.2 11p11.2 SEC14-like 1 pseudogene 1 2012-06-30 2016-01-18 2016-01-18 729799 ENSG00000213693 OTTHUMG00000166418 NR_026952 PGOHUM00000263379 HGNC:44189 +HGNC:10699 SEC14L2 SEC14 like lipid binding 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "TAP|SPF|KIAA1186|KIAA1658|TAP1" "supernatant protein factor|tocopherol-associated protein 1" C22orf6 "SEC14 (S. cerevisiae)-like 2|SEC14-like 2 (S. cerevisiae)|SEC14-like lipid binding 2" SEC14 family 1063 1999-10-12 2016-01-18 2016-01-18 23541 ENSG00000100003 OTTHUMG00000151024 uc032qlk.2 AL096881 NM_012429 "CCDS56228|CCDS13876|CCDS46685" O76054 "10829015|17428729|12757856" MGI:1915065 RGD:621779 607558 HGNC:10699 "ENST00000615189.5|NM_012429.5" +HGNC:18655 SEC14L3 SEC14 like lipid binding 3 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 TAP2 tocopherol-associated protein 2 "SEC14-like 3 (S. cerevisiae)|SEC14-like lipid binding 3" SEC14 family 1063 2002-09-18 2016-01-18 2016-01-18 266629 ENSG00000100012 OTTHUMG00000151259 uc003ahy.4 AY158086 NM_174975 "CCDS58800|CCDS58801|CCDS13877" Q9UDX4 "12757856|15040456|17428729" MGI:3617848 RGD:620812 612824 HGNC:18655 "ENST00000215812.9|NM_174975.5" +HGNC:20627 SEC14L4 SEC14 like lipid binding 4 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "TAP3|dJ130H16.5" tocopherol-associated protein 3 "SEC14-like 4 (S. cerevisiae)|SEC14-like lipid binding 4" SEC14 family 1063 2003-03-10 2016-01-18 2016-10-05 284904 ENSG00000133488 OTTHUMG00000151258 uc003aid.4 AY158085 NM_174977 "CCDS13878|CCDS54517" Q9UDX3 "12757856|20012369" MGI:2144095 RGD:1565810 612825 HGNC:20627 "ENST00000255858.12|NM_174977.4" +HGNC:29032 SEC14L5 SEC14 like lipid binding 5 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA0420|PRELID4B" "SEC14-like 5 (S. cerevisiae)|SEC14-like lipid binding 5" "SEC14 family|PRELI domain containing" "1063|1295" 2005-09-02 2016-01-18 2016-01-18 9717 ENSG00000103184 OTTHUMG00000176942 uc002cye.3 AB007880 NM_014692 CCDS45403 O43304 "9455477|17428729" MGI:3616084 RGD:1564638 619412 HGNC:29032 "ENST00000251170.12|NM_014692.2" +HGNC:40047 SEC14L6 SEC14 like lipid binding 6 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "SEC14-like 6 (S. cerevisiae)|SEC14-like 6|SEC14-like lipid binding 6" SEC14 family 1063 2011-05-06 2016-01-18 2016-01-18 730005 ENSG00000214491 OTTHUMG00000151267 uc021wnu.2 NM_001193336 CCDS54518 B5MCN3 17428729 MGI:2144095 HGNC:40047 "ENST00000402034.7|NM_001193336.4" +HGNC:29006 SEC16A SEC16 homolog A, endoplasmic reticulum export factor protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "p250|Sec16L" KIAA0310 "KIAA0310|SEC16 homolog A (S. cerevisiae)" 2004-02-06 2007-06-20 2015-07-23 2015-07-23 9919 ENSG00000148396 OTTHUMG00000020932 uc064xcg.1 AK074565 NM_014866 "CCDS75936|CCDS55351" O15027 "17192411|21045114" MGI:2139207 RGD:2322350 612854 HGNC:29006 "ENST00000684901.1|NM_014866.2" +HGNC:30301 SEC16B SEC16 homolog B, endoplasmic reticulum export factor protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "RGPR|PGPR-p117|Sec16S" regucalcin gene promotor region related protein LZTR2 "leucine zipper transcription regulator 2|SEC16 homolog B (S. cerevisiae)" 2005-07-06 2007-06-20 2015-07-23 2015-07-23 89866 ENSG00000120341 OTTHUMG00000167206 uc001gli.2 AK090411 NM_033127 "CCDS86035|CCDS44281" Q96JE7 "11605020|17192411|21768384" MGI:2148802 RGD:621658 612855 HGNC:30301 "ENST00000308284.11|NM_033127.4" +HGNC:20260 SEC22A SEC22 homolog A, vesicle trafficking protein protein-coding gene gene with protein product Approved 3q21.1 03q21.1 SEC22L2 "SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)|SEC22 vesicle trafficking protein homolog A (S. cerevisiae)" SNAREs 1124 2003-02-04 2006-04-25 2015-08-05 2015-08-05 26984 ENSG00000121542 OTTHUMG00000159495 uc003ege.4 AF100749 NM_012430 CCDS3021 Q96IW7 "9094723|9501016" MGI:2447876 RGD:621659 612442 HGNC:20260 "ENST00000492595.6|NM_012430.5" +HGNC:10700 SEC22B SEC22 homolog B, vesicle trafficking protein protein-coding gene gene with protein product Approved 1p12 01p12 ERS-24 SEC22L1 "SEC22, vesicle trafficking protein (S. cerevisiae)-like 1|SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)|SEC22 vesicle trafficking protein homolog B (S. cerevisiae)|SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)|SEC22 homolog B, vesicle trafficking protein (gene/pseudogene)" SNAREs 1124 1999-05-28 2006-04-25 2020-05-01 2020-05-04 9554 ENSG00000265808 OTTHUMG00000185008 uc031unv.2 AF047442 NM_004892 CCDS83523 O75396 "9094723|16354670|9950687" MGI:1338759 RGD:1309988 604029 HGNC:10700 "ENST00000578049.4|NM_004892.6" +HGNC:53890 SEC22B2P SEC22 homolog B2, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 SEC22B2 SEC22 homolog B2 2018-05-15 2019-06-28 2019-06-28 2019-06-28 100996716 ENSG00000274423 OTTHUMG00000013745 NR_158171 PGOHUM00000296561 HGNC:53890 +HGNC:53891 SEC22B3P SEC22 homolog B3, pseudogene pseudogene pseudogene Approved 1q21.2 01q21.2 SEC22B3 SEC22 homolog B3 2018-05-15 2019-06-28 2019-06-28 2019-06-28 100996517 ENSG00000275140 OTTHUMG00000188674 NR_158170 PGOHUM00000295884 HGNC:53891 +HGNC:53892 SEC22B4P SEC22 homolog B4, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 2018-05-15 2018-05-15 102724364 ENSG00000277406 OTTHUMG00000188667 PGOHUM00000295870 HGNC:53892 +HGNC:16828 SEC22C SEC22 homolog C, vesicle trafficking protein protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "MGC13261|MGC5373" SEC22L3 "SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)|SEC22 vesicle trafficking protein homolog C (S. cerevisiae)" SNAREs 1124 2003-02-04 2006-04-25 2015-08-05 2016-10-05 9117 ENSG00000093183 OTTHUMG00000131797 uc003clj.4 AF039568 NM_004206 "CCDS2699|CCDS56246|CCDS2700" Q9BRL7 "9501016|11001058" MGI:2447871 RGD:1590146 604028 HGNC:16828 "ENST00000264454.8|NM_032970.4" +HGNC:10701 SEC23A SEC23 homolog A, COPII coat complex component protein-coding gene gene with protein product Approved 14q21.1 14q21.1 "Sec23 (S. cerevisiae) homolog A|Sec23 homolog A (S. cerevisiae)|Sec23 homolog A, COPII coat complex component" COPII coat complex 1960 2000-01-07 2020-12-08 2021-05-26 10484 ENSG00000100934 OTTHUMG00000028812 uc001wup.2 X97064 NM_006364 CCDS9668 Q15436 "8898360|10329445" MGI:1349635 RGD:1309103 610511 118565 HGNC:10701 "ENST00000307712.11|NM_006364.4" HGNC:10701 +HGNC:53213 SEC23A-AS1 SEC23A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q21.1 14q21.1 Antisense RNAs 1987 2017-03-21 2021-01-14 105370458 ENSG00000258651 OTTHUMG00000170749 NR_146545 HGNC:53213 +HGNC:10702 SEC23B SEC23 homolog B, COPII coat complex component protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "CDA-II|CDAII|HEMPAS" CDAN2 "Sec23 (S. cerevisiae) homolog B|congenital dyserythropoietic anemia, type II|Sec23 homolog B (S. cerevisiae)" COPII coat complex 1960 2000-01-07 2019-09-27 2021-05-26 10483 ENSG00000101310 OTTHUMG00000031976 uc002wqz.3 X97065 NM_001172745 "CCDS86935|CCDS13137" Q15437 "8898360|10329445|19621418" MGI:1350925 RGD:1310699 LRG_1134|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1134.xml 610512 205932 HGNC:10702 "ENST00000650089.1|NM_006363.6" HGNC:10702 +HGNC:17018 SEC23IP SEC23 interacting protein protein-coding gene gene with protein product Approved 10q26.11-q26.12 10q26.11-q26.12 "p125|iPLA1β" intracellular phospholipase A1 beta Sterile alpha motif domain containing 760 2003-04-03 2021-02-01 11196 ENSG00000107651 OTTHUMG00000019161 uc001leu.3 AB019435 NM_007190 CCDS7618 Q9Y6Y8 10400679 MGI:2450915 RGD:1309328 617852 HGNC:17018 "ENST00000369075.8|NM_007190.4" +HGNC:10703 SEC24A SEC24 homolog A, COPII coat complex component protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "SEC24 (S. cerevisiae) related gene family, member A|SEC24 family, member A (S. cerevisiae)|SEC24 family member A" COPII coat complex 1960 2000-01-07 2015-08-05 2015-09-02 10802 ENSG00000113615 OTTHUMG00000163064 uc003kzs.4 AJ131244 NM_021982 "CCDS58967|CCDS43363" O95486 "10075675|10329445" MGI:1924621 RGD:1309451 607183 HGNC:10703 "ENST00000398844.7|NM_021982.3" +HGNC:53767 SEC24AP1 SEC24 homolog A pseudogene 1 pseudogene pseudogene Approved 17q24.2 17q24.2 2017-10-25 2017-10-25 100421166 ENSG00000267361 OTTHUMG00000180259 NG_026202 PGOHUM00000294213 HGNC:53767 +HGNC:10704 SEC24B SEC24 homolog B, COPII coat complex component protein-coding gene gene with protein product Approved 4q25 04q25 "SEC24 (S. cerevisiae) related gene family, member B|SEC24 family, member B (S. cerevisiae)|SEC24 family member B" "MicroRNA protein coding host genes|COPII coat complex" "1691|1960" 2000-01-07 2015-08-05 2015-08-05 10427 ENSG00000138802 OTTHUMG00000161372 uc003hzl.4 AJ131245 NM_001042734 "CCDS47124|CCDS43260|CCDS75179" O95487 "10075675|10329445" MGI:2139764 RGD:1309358 607184 HGNC:10704 "ENST00000265175.5|NM_006323.5" +HGNC:44003 SEC24B-AS1 SEC24B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q25 04q25 1/2-SBSRNA4 SEC24B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-28 2012-08-15 2012-10-12 100533182 ENSG00000247950 OTTHUMG00000161048 uc062yym.1 BC009800 NR_039978 21307942 SEC24B-AS1 HGNC:44003 +HGNC:10705 SEC24C SEC24 homolog C, COPII coat complex component protein-coding gene gene with protein product Approved 10q22.2 10q22.2 KIAA0079 "SEC24 (S. cerevisiae) related gene family, member C|SEC24 family, member C (S. cerevisiae)|SEC24 family member C" COPII coat complex 1960 2000-01-07 2015-08-05 2016-10-05 9632 ENSG00000176986 OTTHUMG00000018476 uc001jux.4 D38555 NM_004922 CCDS7332 P53992 "10214955|7584044" MGI:1919746 RGD:1597739 607185 458278 HGNC:10705 "ENST00000345254.9|NM_198597.3" +HGNC:10706 SEC24D SEC24 homolog D, COPII coat complex component protein-coding gene gene with protein product Approved 4q26 04q26 KIAA0755 "SEC24 (S. cerevisiae) related gene family, member D|SEC24 family, member D (S. cerevisiae)|SEC24 family member D" COPII coat complex 1960 2000-01-07 2015-08-05 2021-05-26 9871 ENSG00000150961 OTTHUMG00000132957 uc003ici.5 AB018298 NM_001318066 CCDS3710 O94855 "9872452|10075675" MGI:1916858 RGD:1311720 607186 426017 HGNC:10706 "ENST00000280551.11|NM_014822.4" HGNC:10706 +HGNC:17052 SEC31A SEC31 homolog A, COPII coat complex component protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "KIAA0905|ABP125|ABP130" SEC31L1 "SEC31-like 1 (S. cerevisiae)|Sec31 homolog A (S. cerevisiae)|SEC31 homolog A (S. cerevisiae)" "WD repeat domain containing|COPII coat complex" "362|1960" 2004-01-12 2006-09-07 2015-08-05 2016-10-05 22872 ENSG00000138674 OTTHUMG00000130297 uc003hnm.4 AB018358 NM_016211 "CCDS75155|CCDS43244|CCDS3596|CCDS47088|CCDS54773|CCDS3597|CCDS75156" O94979 "10788476|18692470" MGI:1916412 RGD:620233 610257 HGNC:17052 "ENST00000395310.7|NM_001077207.4" HGNC:17052 +HGNC:23197 SEC31B SEC31 homolog B, COPII coat complex component protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "SEC31B-1|DKFZP434M183" SEC31L2 "SEC31-like 2 (S. cerevisiae)|SEC31 homolog B (S. cerevisiae)" "WD repeat domain containing|COPII coat complex" "362|1960" 2003-10-06 2006-09-07 2015-08-05 2016-10-05 25956 ENSG00000075826 OTTHUMG00000019342 uc001krc.2 AF274863 NM_015490 CCDS7495 Q9NQW1 16495487 MGI:2685187 RGD:1598329 610258 HGNC:23197 "ENST00000370345.8|NM_015490.4" +HGNC:18276 SEC61A1 SEC61 translocon subunit alpha 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 Sec61 alpha 1 subunit (S. cerevisiae) 2003-10-13 2019-11-26 2019-11-26 29927 ENSG00000058262 OTTHUMG00000159624 uc003ekb.4 AF077032 NM_013336 CCDS3046 P61619 "10212142|18480044" MGI:1858417 RGD:68321 609213 HGNC:18276 "ENST00000243253.8|NM_013336.4" HGNC:18276 +HGNC:17702 SEC61A2 SEC61 translocon subunit alpha 2 protein-coding gene gene with protein product Approved 10p14 10p14 FLJ10578 Sec61 alpha 2 subunit (S. cerevisiae) 2003-10-13 2019-11-26 2019-11-26 55176 ENSG00000065665 OTTHUMG00000017679 uc001ile.3 AF346603 NM_018144 "CCDS44358|CCDS7088|CCDS44359" Q9H9S3 "10212142|18480044" MGI:1931071 RGD:1305948 618271 HGNC:17702 "ENST00000298428.14|NM_018144.4" +HGNC:16993 SEC61B SEC61 translocon subunit beta protein-coding gene gene with protein product Approved 9q22.33 09q22.33 Sec61 beta subunit 2003-10-13 2019-11-26 2019-11-26 10952 ENSG00000106803 OTTHUMG00000020354 uc004azh.4 L25085 NM_006808 CCDS6741 P60468 "8107851|10212142" MGI:1913462 RGD:1304997 609214 HGNC:16993 "ENST00000223641.5|NM_006808.3" HGNC:16993 +HGNC:18277 SEC61G SEC61 translocon subunit gamma protein-coding gene gene with protein product Approved 7p11.2 07p11.2 SSS1 Sec61 gamma subunit 2003-11-14 2019-11-26 2019-11-26 23480 ENSG00000132432 OTTHUMG00000023430 uc064dsf.1 AF086539 NM_014302 CCDS5513 P60059 "8107851|10212142" MGI:1202066 RGD:1596170 609215 HGNC:18277 "ENST00000352861.9|NM_014302.4" +HGNC:40835 SEC61G-DT SEC61G divergent transcript non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Divergent transcripts 1990 2020-03-19 2020-03-19 100996654 ENSG00000234707 OTTHUMG00000156071 NR_110040 +HGNC:54783 SEC61GP1 SEC61G pseudogene 1 pseudogene pseudogene Approved 2q32.3 02q32.3 2020-01-08 2020-01-08 107985834 ENSG00000224219 +HGNC:11846 SEC62 SEC62 homolog, preprotein translocation factor protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "Dtrp1|HTP1" TLOC1 "translocation protein 1|SEC62 homolog (S. cerevisiae)" 1998-05-05 2008-04-22 2015-07-31 2015-08-25 7095 ENSG00000008952 OTTHUMG00000158753 uc003fgh.4 D87127 NM_003262 CCDS3210 Q99442 "9020021|10799540|22375059" MGI:1916526 RGD:1308862 602173 HGNC:11846 "ENST00000337002.9|NM_003262.4" +HGNC:40586 SEC62-AS1 SEC62 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.2 03q26.2 SEC62 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-18 106478967 ENSG00000240373 OTTHUMG00000158754 uc062pvq.1 SEC62-AS1 +HGNC:21082 SEC63 SEC63 homolog, protein translocation regulator protein-coding gene gene with protein product Approved 6q21 06q21 "SEC63L|PRO2507|ERdj2|DNAJC23" "SEC63-like (S. cerevisiae)|SEC63 homolog (S. cerevisiae)" DNAJ (HSP40) heat shock proteins 584 2003-05-15 2015-07-31 2021-12-02 11231 ENSG00000025796 OTTHUMG00000015316 uc003psc.5 BC048287 NM_007214 CCDS5061 Q9UGP8 "10219736|10543453|23166619" MGI:2155302 RGD:1304984 608648 118567 HGNC:21082 "ENST00000369002.9|NM_007214.5" HGNC:21082 +HGNC:41953 SEC63P1 SEC63 homolog, protein translocation regulator pseudogene 1 pseudogene pseudogene Approved 1p21.3 01p21.3 SEC63 homolog (S. cerevisiae) pseudogene 1 2011-05-20 2015-07-31 2015-07-31 100420341 ENSG00000228057 OTTHUMG00000039678 NG_027119 PGOHUM00000244805 HGNC:41953 +HGNC:41954 SEC63P2 SEC63 homolog, protein translocation regulator pseudogene 2 pseudogene pseudogene Approved 4p15.1 04p15.1 SEC63 homolog (S. cerevisiae) pseudogene 2 2011-05-20 2015-07-31 2015-07-31 100420287 ENSG00000250416 OTTHUMG00000160374 NG_025200 PGOHUM00000245877 HGNC:41954 +HGNC:30972 SECISBP2 SECIS binding protein 2 protein-coding gene gene with protein product Approved 9q22.2 09q22.2 SBP2 "Sec insertion sequence-binding protein 2|Selenocysteine insertion sequence-binding protein 2" 2004-05-10 2018-07-27 79048 ENSG00000187742 OTTHUMG00000020182 uc004aqj.3 AF380995 NM_024077 "CCDS6683|CCDS65076|CCDS65077" Q96T21 11230166 MGI:1922670 RGD:620991 607693 181119 HGNC:30972 "ENST00000375807.8|NM_024077.5" HGNC:30972 +HGNC:28997 SECISBP2L SECIS binding protein 2 like protein-coding gene gene with protein product Approved 15q21.1 15q21.1 KIAA0256 2009-02-11 2016-03-02 2020-04-01 9728 ENSG00000138593 OTTHUMG00000172194 uc001zxd.4 BC033001 NM_014701 "CCDS53942|CCDS32234" Q93073 MGI:1917604 RGD:1559930 615756 HGNC:28997 "ENST00000559471.6|NM_001193489.2" +HGNC:10707 SECTM1 secreted and transmembrane 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 K12 "K12 protein|type 1a transmembrane protein" 1997-10-27 2019-08-21 6398 ENSG00000141574 OTTHUMG00000178668 uc002keo.4 U77643 NM_003004 CCDS11808 Q8WVN6 9480746 MGI:2384805 RGD:735132 602602 HGNC:10707 "ENST00000269389.8|NM_003004.3" +HGNC:30379 SEH1L SEH1 like nucleoporin protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "SEH1A|SEH1B|Seh1|SEC13L" "sec13 like protein|nucleoporin Seh1" "SEH1-like (S. cerevisiae)|SEH1-like nucleoporin" "WD repeat domain containing|Nucleoporins|GATOR2 subcomplex" "362|1051|1395" 2004-07-08 2015-12-01 2020-04-01 81929 ENSG00000085415 OTTHUMG00000181909 uc002krr.5 BC012430 NM_031216 "CCDS32791|CCDS45832" Q96EE3 "12196509|14517296|15146057" MGI:1919374 RGD:6490353 609263 HGNC:30379 "ENST00000399892.7|NM_001013437.2" +HGNC:10717 SEL1L SEL1L adaptor subunit of ERAD E3 ubiquitin ligase protein-coding gene gene with protein product Approved 14q31 14q31 "IBD2|SEL1L1|Hrd3" sel-1 suppressor of lin-12-like 1 (C. elegans) "sel-1 suppressor of lin-12-like (C. elegans)|SEL1L, ERAD E3 ligase adaptor subunit" 1997-04-25 2019-02-07 2019-02-07 6400 ENSG00000071537 OTTHUMG00000171419 uc010tvv.3 NM_005065 "CCDS9876|CCDS58333" Q9UBV2 "9417916|10051412|16331677|8264092" MGI:1329016 RGD:620147 602329 HGNC:10717 "ENST00000336735.9|NM_005065.6" +HGNC:15897 SEL1L2 SEL1L2 adaptor subunit of ERAD E3 ligase protein-coding gene gene with protein product Approved 20p12.1 20p12.1 DKFZp434C1826 C20orf50 "chromosome 20 open reading frame 50|sel-1 suppressor of lin-12-like 2 (C. elegans)" 2001-06-21 2006-11-24 2019-04-16 2019-04-16 80343 ENSG00000101251 OTTHUMG00000031910 uc061vme.1 AL137678 NM_025229 "CCDS59443|CCDS86933" Q5TEA6 MGI:2684964 RGD:1311278 614289 HGNC:15897 "ENST00000284951.10|NM_025229.2" +HGNC:29108 SEL1L3 SEL1L family member 3 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 KIAA0746 KIAA0746 protein sel-1 suppressor of lin-12-like 3 (C. elegans) 2009-09-24 2016-01-20 2016-01-20 23231 ENSG00000091490 OTTHUMG00000160331 uc003gru.5 BC009945 NM_015187 "CCDS77907|CCDS47037|CCDS75113" Q68CR1 9872452 MGI:1916941 RGD:1562860 HGNC:29108 "ENST00000399878.8|NM_015187.5" +HGNC:10718 SELE selectin E protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "ESEL|CD62E" "ELAM1|ELAM" endothelial adhesion molecule 1 "CD molecules|Selectins|Sushi domain containing|C-type lectin domain containing" "471|945|1179|1298" 1989-06-30 2008-07-31 2015-08-25 6401 ENSG00000007908 OTTHUMG00000034851 uc001ggm.5 M30640 NM_000450 CCDS1283 P16581 1375831 MGI:98278 RGD:3654 131210 CD62E HGNC:10718 "ENST00000333360.12|NM_000450.2" +HGNC:10719 SELENBP1 selenium binding protein 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "hSP56|hSBP|LPSB" methanethiol oxidase 1999-01-15 2021-05-26 8991 ENSG00000143416 OTTHUMG00000012498 uc001exx.5 U29091 NM_001258288 "CCDS58027|CCDS60266|CCDS995" Q13228 9027582 MGI:96825 RGD:620571 604188 HGNC:10719 "ENST00000368868.10|NM_003944.4" HGNC:10719 +HGNC:17705 SELENOF selenoprotein F protein-coding gene gene with protein product Approved 1p22.3 01p22.3 SEP15 selenoprotein F (15kDa) Selenoproteins 890 2016-09-18 2016-09-21 9403 ENSG00000183291 OTTHUMG00000008520 NM_004261 "CCDS76177|CCDS76178" O60613 "9535873|10945981" MGI:1927947 RGD:621291 606254 HGNC:17705 "ENST00000331835.10|NM_004261.5" +HGNC:18251 SELENOH selenoprotein H protein-coding gene gene with protein product Approved 11q12.1 11q12.1 SELH C11orf31 chromosome 11 open reading frame 31 Selenoproteins 890 2002-02-19 2016-09-21 2016-09-21 2016-09-21 280636 ENSG00000211450 OTTHUMG00000167202 uc021qjj.2 AJ276249 NM_170746 CCDS44602 Q8IZQ5 12775843 MGI:1919907 RGD:1563348 607914 HGNC:18251 "ENST00000534355.6|NM_170746.4" +HGNC:29361 SELENOI selenoprotein I protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "KIAA1724|SELI|SEPI" EPT1 "ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)|ethanolaminephosphotransferase 1" Selenoproteins 890 2010-03-01 2016-09-21 2016-09-21 2019-06-25 85465 ENSG00000138018 OTTHUMG00000151931 uc021veu.2 NM_033505.2 CCDS46240 Q9C0D9 "28052917|11214970|17132865" MGI:107898 RGD:1560938 607915 2.7.8.1 HGNC:29361 "ENST00000260585.12|NM_033505.4" +HGNC:30394 SELENOK selenoprotein K protein-coding gene gene with protein product Approved 3p21.1 03p21.1 SELK Selenoproteins 890 2016-09-18 2020-08-11 58515 ENSG00000113811 OTTHUMG00000158656 NM_021237 CCDS54597 Q9Y6D0 11042152 MGI:1931466 RGD:1303129 607916 HGNC:30394 "ENST00000495461.6|NM_021237.5" +HGNC:53724 SELENOKP1 selenoprotein K pseudogene 1 pseudogene pseudogene Approved 19q13.12 19q13.12 2017-09-08 2017-09-08 100129085 ENSG00000267319 OTTHUMG00000182109 NG_028009 PGOHUM00000294996 HGNC:53724 +HGNC:53725 SELENOKP2 selenoprotein K pseudogene 2 pseudogene pseudogene Approved 6q23.2 06q23.2 2017-09-08 2017-09-08 100127908 ENSG00000219532 OTTHUMG00000015570 NG_008206 PGOHUM00000301549 HGNC:53725 +HGNC:53726 SELENOKP3 selenoprotein K pseudogene 3 pseudogene pseudogene Approved 6q22.31 06q22.31 2017-09-08 2017-09-08 100287632 ENSG00000225549 OTTHUMG00000015466 NR_037662 PGOHUM00000301929 HGNC:53726 +HGNC:30397 SELENOM selenoprotein M protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "SELM|SEPM" Selenoproteins 890 2016-09-18 2020-08-11 140606 ENSG00000198832 OTTHUMG00000151207 NM_080430 CCDS43003 Q8WWX9 11839807 MGI:2149786 RGD:1565037 610918 HGNC:30397 "ENST00000400299.6|NM_080430.4" +HGNC:15999 SELENON selenoprotein N protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SELN|RSS" "RSMD1|MDRS1|SEPN1" "rigid spine muscular dystrophy 1|selenoprotein N, 1" "EF-hand domain containing|Selenoproteins" "863|890" 2001-07-11 2016-09-21 2016-09-21 2021-12-02 57190 ENSG00000162430 OTTHUMG00000007375 uc021ojk.2 AF166125 NM_020451 "CCDS41283|CCDS41282" Q9NZV5 10608886 MGI:2151208 RGD:1304574 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SEPN1|LRG_857|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_857.xml" 606210 118596 HGNC:15999 "ENST00000361547.7|NM_020451.3" HGNC:15999 +HGNC:30395 SELENOO selenoprotein O protein-coding gene gene with protein product Approved 22q13.33 22q13.33 SELO Selenoproteins 890 2016-09-18 2020-08-11 83642 ENSG00000073169 OTTHUMG00000044645 NM_031454 CCDS43034 Q9BVL4 "12775843|22359664" MGI:1919007 RGD:1311907 607917 HGNC:30395 "ENST00000380903.7|NM_031454.2" +HGNC:56048 SELENOO-AS1 SELENOO antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.33 22q13.33 Antisense RNAs 1987 2021-12-09 2021-12-09 105373095 ENSG00000273137 XR_938352 +HGNC:53787 SELENOOLP selenoprotein O like, pseudogene pseudogene pseudogene Approved 10p12.1 10p12.1 2017-12-08 2017-12-08 2020-01-15 105376462 ENSG00000227932 OTTHUMG00000017843 XR_930765 HGNC:53787 +HGNC:10751 SELENOP selenoprotein P protein-coding gene gene with protein product Approved 5p12 05p12 "SeP|SELP|SEPP" SEPP1 selenoprotein P, plasma, 1 Selenoproteins 890 1996-10-26 2016-09-21 2016-09-21 2016-10-25 6414 ENSG00000250722 OTTHUMG00000162140 uc063dhe.1 BC040075 NM_005410 CCDS43311 P49908 8421687 MGI:894288 RGD:3660 601484 HGNC:10751 "ENST00000514985.6|NM_005410.4" +HGNC:30396 SELENOS selenoprotein S protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "SELS|MGC2553|SBBI8|AD-015|SEPS1" valosin-containing protein-interacting membrane protein VIMP "VCP-interacting membrane protein|VCP interacting membrane selenoprotein" Selenoproteins 890 2012-05-23 2016-09-21 2016-09-21 2016-09-21 55829 ENSG00000131871 OTTHUMG00000166441 uc059nyd.1 AF328864 NM_018445 CCDS53979 Q9BQE4 "16227999|16186510|15215856" MGI:95994 RGD:628897 607918 HGNC:30396 "ENST00000526049.6|NM_018445.6" +HGNC:18136 SELENOT selenoprotein T protein-coding gene gene with protein product Approved 3q25.1 03q25.1 SELT Selenoproteins 890 2016-09-18 2020-08-11 51714 ENSG00000198843 OTTHUMG00000159825 NM_016275 CCDS46936 P62341 10567350 MGI:1916477 RGD:1359128 607912 HGNC:18136 "ENST00000471696.6|NM_016275.5" +HGNC:53722 SELENOTP1 selenoprotein T pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 2017-09-08 2017-09-08 645969 ENSG00000233846 OTTHUMG00000019519 NG_027962 PGOHUM00000304096 HGNC:53722 +HGNC:53723 SELENOTP2 selenoprotein T pseudogene 2 pseudogene pseudogene Approved 5q23.2 05q23.2 2017-09-08 2017-09-08 100130316 ENSG00000271585 OTTHUMG00000184309 NG_055540 PGOHUM00000300748 HGNC:53723 +HGNC:30399 SELENOV selenoprotein V protein-coding gene gene with protein product Approved 19q13.2 19q13.2 SELV Selenoproteins 890 2016-09-18 2016-09-21 348303 ENSG00000186838 OTTHUMG00000166446 NM_182704 CCDS54266 P59797 12775843 RGD:1562943 607919 HGNC:30399 +HGNC:10752 SELENOW selenoprotein W protein-coding gene gene with protein product Approved 19q13.33 19q13.33 SELW SEPW1 selenoprotein W, 1 Selenoproteins 890 1997-12-16 2016-09-21 2016-09-21 2016-11-16 6415 ENSG00000178980 OTTHUMG00000183061 uc021uwp.2 U67171 NM_003009 CCDS59402 P63302 9256076 MGI:1100878 RGD:3661 603235 HGNC:10752 "ENST00000601048.6|NM_003009.4" +HGNC:10753 SELENOWP1 selenoprotein W pseudogene 1 pseudogene pseudogene Approved 1p35.2 01p35.2 SEPW1P selenoprotein W, 1 pseudogene 1998-10-12 2016-09-21 2016-09-21 2016-09-21 23679 ENSG00000215900 OTTHUMG00000008500 AF083062 NG_002791 12818432 PGOHUM00000243954 HGNC:10753 +HGNC:10720 SELL selectin L protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "LSEL|LAM1|LAM-1|hLHRc|Leu-8|Lyam-1|PLNHR|CD62L" "LYAM1|LNHR" lymphocyte adhesion molecule 1 "CD molecules|Selectins|Sushi domain containing|C-type lectin domain containing" "471|945|1179|1298" 1989-06-07 2008-07-31 2015-08-25 6402 ENSG00000188404 OTTHUMG00000034809 uc001ggk.4 M25280 NM_000655 CCDS53427 P14151 "2664786|1375831" MGI:98279 RGD:3655 153240 CD62L HGNC:10720 "ENST00000236147.6|NM_000655.5" +HGNC:10721 SELP selectin P protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "CD62|PSEL|PADGEM|GMP140|CD62P" "antigen CD62|granule membrane protein 140kDa" GRMP "selectin P (granule membrane protein 140kD, antigen CD62)|selectin P (granule membrane protein 140kDa, antigen CD62)" "CD molecules|Selectins|Sushi domain containing|C-type lectin domain containing" "471|945|1179|1298" 1989-06-30 2015-11-16 2015-11-16 6403 ENSG00000174175 OTTHUMG00000034685 uc001ggi.5 BC068533 NM_003005 CCDS1282 P16109 1375831 MGI:98280 RGD:3656 173610 objectId:3103 CD62P HGNC:10721 "ENST00000263686.11|NM_003005.4" +HGNC:10722 SELPLG selectin P ligand protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "PSGL-1|CD162" "CD molecules|Receptor ligands" "471|542" 1995-01-31 2016-10-25 6404 ENSG00000110876 OTTHUMG00000169411 uc001tni.4 NM_001206609 "CCDS31895|CCDS55881" Q14242 7505206 MGI:106689 RGD:1307971 600738 ligandId:10014 CD162 HGNC:10722 "ENST00000550948.2|NM_003006.4" +HGNC:10845 SEM1 SEM1 26S proteasome subunit protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "DSS1|Shfdg1|ECD|SHSF1|FLJ42280|PSMD15" deleted in split-hand/foot 1 "SHFD1|SHFM1|C7orf76" "split hand/foot malformation (ectrodactyly) type 1|chromosome 7 open reading frame 76|SEM1, 26S proteasome complex subunit" "Proteasome|Transcription and export complex 2" "690|1276" 1991-08-20 2016-11-22 2021-02-25 2021-02-25 7979 ENSG00000127922 OTTHUMG00000150680 uc003uoi.4 U41515 NM_006304 CCDS5646 "P60896|Q6ZVN7" "1895319|8733122" MGI:109238 RGD:1590628 601285 138681 HGNC:10845 "ENST00000248566.4|NM_006304.2" +HGNC:24454 SEM1P1 SEM1 pseudogene 1 pseudogene pseudogene Approved 5q14.1 05q14.1 DSS1P1 deleted in split hand/split foot 1 pseudogene "SHFM1P|SHFM1P1" "split hand/foot malformation (ectrodactyly) type 1 pseudogene|split hand/foot malformation (ectrodactyly) type 1 pseudogene 1" 2007-07-26 2016-11-22 2019-01-22 2019-01-22 153842 ENSG00000214857 OTTHUMG00000162556 U61847 NG_001311 9060422 HGNC:24454 +HGNC:10723 SEMA3A semaphorin 3A protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "SEMA1|SemD|coll-1|Hsema-I" sema III SEMAD sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A "Immunoglobulin like domain containing|Semaphorins" "594|736" 1999-06-25 2016-01-14 2021-05-26 10371 ENSG00000075213 OTTHUMG00000023443 uc003uhz.4 L26081 NM_006080 CCDS5599 Q14563 "8269517|7748561" MGI:107558 RGD:3657 603961 294689 ligandId:9902 HGNC:10723 "ENST00000265362.9|NM_006080.3" HGNC:10723 +HGNC:10724 SEMA3B semaphorin 3B protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SemA|semaV|LUCA-1|sema5" SEMAA sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B "Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "594|736|1691" 1999-06-25 2016-01-14 2016-10-05 7869 ENSG00000012171 OTTHUMG00000156970 uc032rmz.2 U28369 NM_001005914 "CCDS77743|CCDS74941|CCDS77745|CCDS77744" Q13214 "7748561|8633026" MGI:107561 RGD:1310079 601281 HGNC:10724 "ENST00000616701.5|NM_001290060.2" +HGNC:49096 SEMA3B-AS1 SEMA3B antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 Antisense RNAs 1987 2013-09-02 2019-07-11 101928931 ENSG00000232352 OTTHUMG00000156955 NR_110702 "30656427|31251699" SEMA3B-AS1 HGNC:49096 +HGNC:10725 SEMA3C semaphorin 3C protein-coding gene gene with protein product Approved 7q21.11 07q21.11 SemE SEMAE sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C "I-set domain containing|Semaphorins" "593|736" 1999-06-25 2016-01-14 2016-10-05 10512 ENSG00000075223 OTTHUMG00000023447 uc064evu.1 AB000220 NM_006379 CCDS5596 Q99985 "7748561|9168980" MGI:107557 RGD:1309343 602645 431136 HGNC:10725 "ENST00000265361.8|NM_006379.5" +HGNC:10726 SEMA3D semaphorin 3D protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "coll-2|Sema-Z2" sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D "V-set domain containing|Semaphorins" "590|736" 1999-06-25 2016-01-14 2016-01-14 223117 ENSG00000153993 OTTHUMG00000154569 uc003uic.4 BC029590 NM_152754 CCDS34676 O95025 MGI:1860118 RGD:727939 609907 431145 HGNC:10726 "ENST00000284136.11|NM_001384900.1" +HGNC:10727 SEMA3E semaphorin 3E protein-coding gene gene with protein product Approved 7q21.11 07q21.11 "M-SemaK|KIAA0331|coll-5" M-sema H SEMAH sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E "Immunoglobulin like domain containing|Semaphorins" "594|736" 1999-06-25 2016-01-14 2021-05-26 9723 ENSG00000170381 OTTHUMG00000154693 uc003uhy.3 AB002329 NM_012431 "CCDS34674|CCDS55121" O15041 "9205841|9515811" MGI:1340034 RGD:1310973 LRG_1287|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1287.xml 608166 118590 HGNC:10727 "ENST00000643230.2|NM_012431.3" HGNC:10727 +HGNC:10728 SEMA3F semaphorin 3F protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SEMAK|Sema4" sema IV sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F "Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "594|736|1691" 1995-12-18 2016-01-14 2016-10-05 6405 ENSG00000001617 OTTHUMG00000156806 uc003cyj.4 U33920 NM_004186 "CCDS2811|CCDS82780|CCDS82779" Q13275 "8786119|8649831" MGI:1096347 RGD:1308514 601124 HGNC:10728 "ENST00000002829.8|NM_004186.5" +HGNC:40518 SEMA3F-AS1 SEMA3F antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 RBM5-AS1 Antisense RNAs 1987 2014-06-12 2014-11-19 100129060 ENSG00000235016 OTTHUMG00000156795 AK125500 NR_135301 SEMA3F-AS1 HGNC:40518 +HGNC:30400 SEMA3G semaphorin 3G protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "FLJ00014|sem2" sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G "Immunoglobulin like domain containing|Semaphorins" "594|736" 2005-07-12 2016-01-14 2016-01-14 56920 ENSG00000010319 OTTHUMG00000158570 uc003dea.2 NM_020163 CCDS2856 Q9NS98 11214971 MGI:3041242 RGD:1306079 HGNC:30400 "ENST00000231721.7|NM_020163.3" +HGNC:10729 SEMA4A semaphorin 4A protein-coding gene gene with protein product Approved 1q22 01q22 "SemB|FLJ12287|CORD10" SEMAB sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A Semaphorins 736 2004-04-22 2016-01-14 2021-05-26 64218 ENSG00000196189 OTTHUMG00000014042 uc001fnl.4 AK022416 NM_022367 "CCDS53378|CCDS1132" Q9H3S1 "7748561|12374982" MGI:107560 RGD:1304636 607292 158388 HGNC:10729 "ENST00000368285.8|NM_022367.4" HGNC:10729 +HGNC:10730 SEMA4B semaphorin 4B protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SemC|KIAA1745|MGC131831" SEMAC sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B Semaphorins 736 1999-06-25 2016-01-14 2019-08-21 10509 ENSG00000185033 OTTHUMG00000172096 uc002boy.4 AB051532 NM_198925 CCDS45347 Q9NPR2 7748561 MGI:107559 RGD:1307872 617029 HGNC:10730 "ENST00000411539.7|NM_198925.4" +HGNC:10731 SEMA4C semaphorin 4C protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "Semacl1|Semaf" M-Sema F SEMAI sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C "Immunoglobulin like domain containing|Semaphorins" "594|736" 2004-02-04 2016-01-14 2016-01-14 54910 ENSG00000168758 OTTHUMG00000130535 uc002sxh.5 AB051526 NM_017789 CCDS2029 Q9C0C4 7656991 MGI:109252 RGD:1562837 604462 471040 HGNC:10731 "ENST00000305476.10|NM_017789.5" +HGNC:10732 SEMA4D semaphorin 4D protein-coding gene gene with protein product Approved 9q22.2 09q22.2 "CD100|coll-4|FLJ39737" M-sema G "SEMAJ|C9orf164" "chromosome 9 open reading frame 164|sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D" "CD molecules|Immunoglobulin like domain containing|Semaphorins" "471|594|736" 1999-06-25 2016-01-14 2016-10-05 10507 ENSG00000187764 OTTHUMG00000020185 uc064ueq.1 U60800 NM_006378 "CCDS47991|CCDS6685" Q92854 "8876214|8969198" MGI:109244 RGD:1310554 601866 objectId:2883 CD100 HGNC:10732 "ENST00000422704.7|NM_001371194.2" +HGNC:10734 SEMA4F ssemaphorin 4F protein-coding gene gene with protein product Approved 2p13.1 02p13.1 SEMAW m-Sema M SEMAM sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F Semaphorins 736 1999-06-25 2016-01-14 2016-01-14 10505 ENSG00000135622 OTTHUMG00000129952 uc002sna.3 AF038652 NM_004263 "CCDS62942|CCDS74529|CCDS1955" O95754 10051670 MGI:1340055 RGD:3658 603706 HGNC:10734 "ENST00000357877.7|NM_004263.5" +HGNC:10735 SEMA4G semaphorin 4G protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FLJ20590|KIAA1619" sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G "Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "594|736|1691" 1999-06-25 2016-01-14 2016-01-14 57715 ENSG00000095539 OTTHUMG00000018922 uc001krw.3 AB046839 NM_001203244 "CCDS55724|CCDS7501" Q9NTN9 MGI:1347047 RGD:1310436 618991 HGNC:10735 +HGNC:10736 SEMA5A semaphorin 5A protein-coding gene gene with protein product Approved 5p15.31 05p15.31 semF SEMAF sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A "Semaphorins|MicroRNA protein coding host genes" "736|1691" 1999-06-25 2016-01-14 2021-05-26 9037 ENSG00000112902 OTTHUMG00000090501 uc003jek.3 U52840 NM_003966 CCDS3875 Q13591 "8817451|9464278" MGI:107556 RGD:1308650 609297 158394 HGNC:10736 "ENST00000382496.10|NM_003966.3" +HGNC:52973 SEMA5A-AS1 SEMA5A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 Antisense RNAs 1987 2016-12-22 2016-12-22 101929338 ENSG00000251370 OTTHUMG00000161718 NR_109935 HGNC:52973 +HGNC:10737 SEMA5B semaphorin 5B protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "SemG|KIAA1445|FLJ10372" SEMAG sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B Semaphorins 736 1999-06-25 2016-01-14 2016-01-14 54437 ENSG00000082684 OTTHUMG00000140392 uc003efz.3 AB040878 NM_001031702 "CCDS35491|CCDS74995|CCDS58848" Q9P283 8817451 MGI:107555 RGD:1308914 609298 HGNC:10737 "ENST00000357599.8|NM_001031702.4" +HGNC:10738 SEMA6A semaphorin 6A protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "KIAA1368|SEMA6A1|SEMA|HT018" sema VIa SEMAQ sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A Semaphorins 736 1999-06-25 2016-01-14 2021-12-08 57556 ENSG00000092421 OTTHUMG00000162987 uc010jck.4 AB037789 NM_020796 "CCDS47256|CCDS75288" Q9H2E6 "9204478|10993894" MGI:1203727 RGD:1305493 605885 HGNC:10738 "ENST00000343348.11|NM_020796.5" +HGNC:51110 SEMA6A-AS1 SEMA6A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Antisense RNAs 1987 2014-07-29 2014-07-29 101927233 ENSG00000248445 OTTHUMG00000162986 NR_109879 SEMA6A-AS1 HGNC:51110 +HGNC:52754 SEMA6A-AS2 SEMA6A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q23.1 05q23.1 Antisense RNAs 1987 2016-12-07 2016-12-07 105379132 ENSG00000249167 OTTHUMG00000162882 NR_147170 HGNC:52754 +HGNC:10739 SEMA6B semaphorin 6B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "semaZ|SEMA-VIB|SEM-SEMA-Z" "Sema VIb|semaphorin Z|semaphorin VIB" SEMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B Semaphorins 736 1999-06-25 2016-01-14 2021-12-08 10501 ENSG00000167680 OTTHUMG00000182011 uc010dud.3 AB022433 NM_032108 CCDS12131 Q9H3T3 "9361278|942725" MGI:1202889 RGD:69278 608873 HGNC:10739 "ENST00000586582.6|NM_032108.4" HGNC:10739 +HGNC:10740 SEMA6C semaphorin 6C protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KIAA1869|Sema-Y" m-Sema Y2 sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C Semaphorins 736 1999-06-25 2016-01-14 2021-12-08 10500 ENSG00000143434 OTTHUMG00000012261 uc001ewv.4 AF339154 NM_030913 "CCDS53364|CCDS984|CCDS53363" Q9H3T2 "10049528|12110693" MGI:1338032 RGD:3659 609294 HGNC:10740 "ENST00000368914.8|NM_030913.6" +HGNC:16770 SEMA6D semaphorin 6D protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "KIAA1479|FLJ11598" sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D Semaphorins 736 2004-09-17 2016-01-14 2021-12-08 80031 ENSG00000137872 OTTHUMG00000172110 uc001zvy.3 AF389430 NM_024966 "CCDS32227|CCDS32225|CCDS32229|CCDS32226|CCDS32224|CCDS32228" Q8NFY4 "12110693|14977921" MGI:2387661 RGD:1310910 609295 HGNC:16770 "ENST00000536845.7|NM_001358351.3" HGNC:16770 +HGNC:10741 SEMA7A semaphorin 7A (John Milton Hagen blood group) protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "H-Sema-L|CD108" "John Milton Hagen blood group|H-Sema K1" SEMAL "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A|sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)|semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)" "Blood group antigens|CD molecules|Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes" "454|471|594|736|1691" 1999-06-25 2016-01-14 2021-05-26 8482 ENSG00000138623 OTTHUMG00000139000 uc002axv.4 AF069493 NM_003612 "CCDS53959|CCDS10262|CCDS53958" O75326 9721204 MGI:1306826 RGD:1305192 LRG_818|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_818.xml 607961 CD108 HGNC:10741 "ENST00000261918.9|NM_003612.5" +HGNC:10742 SEMG1 semenogelin 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 CT103 "semen coagulating protein|cancer/testis antigen 103" SEMG semenogelin I 1991-09-13 2018-02-09 2018-02-09 6406 ENSG00000124233 OTTHUMG00000032565 uc002xni.3 NM_003007 CCDS13345 P04279 "2912989|15563730" "MGI:1858275|MGI:1927635|MGI:3583778" RGD:3790 182140 HGNC:10742 "ENST00000372781.4|NM_003007.5" +HGNC:10743 SEMG2 semenogelin 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 SGII Semenogelin 2 semenogelin II 1992-12-02 2018-02-09 2018-02-09 6407 ENSG00000124157 OTTHUMG00000032566 uc002xnk.4 NM_003008 CCDS13346 Q02383 "1517240|9523691" "MGI:1858275|MGI:1927635|MGI:3583778" 182141 HGNC:10743 "ENST00000372769.4|NM_003008.3" +HGNC:44177 SENCR smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 FLI1-AS1 "FLI1 antisense RNA 1 (non-protein coding)|FLI1 antisense RNA 1|smooth muscle and endothelial cell enriched migration/differentiation-associated long non-coding RNA" Long non-coding RNAs with non-systematic symbols 1992 2012-06-30 2013-11-25 2017-07-13 2018-09-07 100507392 ENSG00000254703 OTTHUMG00000165793 BC039676 NR_038908 24578380 615815 sencr SENCR HGNC:44177 +HGNC:17927 SENP1 SUMO specific peptidase 1 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "SUMO1/sentrin specific protease 1|SUMO1/sentrin specific peptidase 1" SUMO specific peptidases 984 2004-02-20 2018-02-23 2018-02-23 29843 ENSG00000079387 OTTHUMG00000169896 uc001rqx.5 AF149770 NM_014554 CCDS44868 Q9P0U3 "10652325|14563852" MGI:2445054 RGD:1310275 612157 C48.002 objectId:2414 3.4.22.68 HGNC:17927 "ENST00000549518.6|NM_001267594.2" +HGNC:23116 SENP2 SUMO specific peptidase 2 protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "SMT3IP2|KIAA1331|DKFZp762A2316|AXAM2" "SUMO1/sentrin/SMT3 specific protease 2|SUMO1/sentrin/SMT3 specific peptidase 2|sentrin (SUMO1) specific peptidase 2" SUMO specific peptidases 984 2004-03-11 2018-02-23 2018-02-23 59343 ENSG00000163904 OTTHUMG00000156658 uc003fpn.4 AF151697 NM_021627 CCDS33902 Q9HC62 "11896061|11489887" MGI:1923076 RGD:708378 608261 C48.007 3.4.22.68 HGNC:23116 "ENST00000296257.10|NM_021627.3" +HGNC:17862 SENP3 SUMO specific peptidase 3 protein-coding gene gene with protein product Approved 17p13 17p13 "DKFZP586K0919|SSP3|DKFZp762A152|SMT3IP1|Ulp1" "SUMO1/sentrin/SMT3 specific protease 3|SUMO1/sentrin/SMT3 specific peptidase 3" "SUMO specific peptidases|Large ribosomal subunit biogenesis complex" "984|1301" 2004-03-11 2018-02-23 2019-08-20 26168 ENSG00000161956 OTTHUMG00000178333 uc032esp.2 AK000923 NM_015670 CCDS73958 Q9H4L4 "10806345|11230166" MGI:2158736 RGD:1312040 612844 C48.003 3.4.22.68 HGNC:17862 "ENST00000321337.12|NM_015670.6" +HGNC:49182 SENP3-EIF4A1 SENP3-EIF4A1 readthrough (NMD candidate) other readthrough Approved 17p13.1 17p13.1 2013-09-25 2013-09-25 2015-01-30 100533955 ENSG00000277957 OTTHUMG00000178334 NR_037926 HGNC:49182 +HGNC:28407 SENP5 SUMO specific peptidase 5 protein-coding gene gene with protein product Approved 3q29 03q29 MGC27076 "SUMO1/sentrin specific protease 5|SUMO1/sentrin specific peptidase 5" SUMO specific peptidases 984 2004-02-20 2018-02-23 2018-02-23 205564 ENSG00000119231 OTTHUMG00000155527 uc003fwz.5 BC030705 NM_152699 "CCDS3322|CCDS77876" Q96HI0 16738315 MGI:2443596 RGD:1304604 612845 C48.008 3.4.22.68 HGNC:28407 "ENST00000323460.10|NM_152699.5" +HGNC:20944 SENP6 SUMO specific peptidase 6 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "SUSP1|KIAA0797" "SUMO1/sentrin specific protease 6|SUMO1/sentrin specific peptidase 6" SUMO specific peptidases 984 2004-03-11 2018-02-23 2018-02-23 26054 ENSG00000112701 OTTHUMG00000015060 uc003pie.5 NM_015571 "CCDS43483|CCDS78158|CCDS47454" Q9GZR1 MGI:1922075 RGD:1304565 605003 C48.004 objectId:2415 3.4.22.68 HGNC:20944 "ENST00000447266.7|NM_015571.4" +HGNC:30402 SENP7 SUMO specific peptidase 7 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "SUMO1/sentrin specific protease 7|SUMO1/sentrin specific peptidase 7" SUMO specific peptidases 984 2004-02-20 2018-02-23 2018-02-23 57337 ENSG00000138468 OTTHUMG00000149927 uc003dut.5 NM_020654 "CCDS63705|CCDS43121|CCDS63704|CCDS2941|CCDS63706" Q9BQF6 "11214970|11230166" MGI:1913565 RGD:1305510 612846 C48.009 objectId:2416 HGNC:30402 "ENST00000394095.7|NM_020654.5" +HGNC:22992 SENP8 SUMO peptidase family member, NEDD8 specific protein-coding gene gene with protein product Approved 15q23 15q23 "NEDP1|DEN1|HsT17512" "NEDD8-specific protease 1|sentrin/SUMO-specific protease SENP8|deneddylase 1" PRSC2 "protease, cysteine, 2 (NEDD8 specific)|SUMO/sentrin specific protease family member 8|SUMO/sentrin specific peptidase family member 8|SUMO/sentrin peptidase family member, NEDD8 specific" SUMO specific peptidases 984 2003-09-02 2004-01-30 2018-02-23 2018-02-23 123228 ENSG00000166192 OTTHUMG00000133441 uc021spq.2 BC031411 NM_145204 CCDS10240 Q96LD8 "12730221|12759362" MGI:1918849 RGD:1309955 608659 objectId:2417 HGNC:22992 "ENST00000340912.6|NM_145204.4" +HGNC:19685 SEPHS1 selenophosphate synthetase 1 protein-coding gene gene with protein product Approved 10p13 10p13 "SPS|SPS1" selenide, water dikinase 2003-11-06 2016-10-05 22929 ENSG00000086475 OTTHUMG00000017696 uc001imk.4 BC000941 NM_012247 "CCDS55703|CCDS55702|CCDS7098" P49903 7665581 MGI:1923580 RGD:1311182 600902 HGNC:19685 "ENST00000327347.10|NM_012247.5" +HGNC:42161 SEPHS1P1 selenophosphate synthetase 1 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2011-06-06 2014-11-18 168474 ENSG00000182722 OTTHUMG00000156602 NR_002789 PGOHUM00000232829 HGNC:42161 +HGNC:42162 SEPHS1P2 selenophosphate synthetase 1 pseudogene 2 pseudogene pseudogene Approved 15q26.1 15q26.1 2011-06-06 2018-10-03 100420292 ENSG00000258787 OTTHUMG00000171794 NG_025354 PGOHUM00000246933 HGNC:42162 +HGNC:42163 SEPHS1P3 selenophosphate synthetase 1 pseudogene 3 pseudogene pseudogene Approved 5q35.2 05q35.2 2011-06-06 2018-10-03 100420189 NG_024643 PGOHUM00000300828 HGNC:42163 +HGNC:42169 SEPHS1P4 selenophosphate synthetase 1 pseudogene 4 pseudogene pseudogene Approved Xq13.2 Xq13.2 2011-06-06 2014-11-18 389873 ENSG00000230146 OTTHUMG00000021836 NG_022673 PGOHUM00000241847 HGNC:42169 +HGNC:42168 SEPHS1P6 selenophosphate synthetase 1 pseudogene 6 pseudogene pseudogene Approved 2q33.1 02q33.1 2011-06-06 2014-11-18 729399 ENSG00000213938 OTTHUMG00000154492 NG_021597 PGOHUM00000241057 HGNC:42168 +HGNC:42167 SEPHS1P7 selenophosphate synthetase 1 pseudogene 7 pseudogene pseudogene Approved 2q14.1 02q14.1 2011-06-06 2014-11-19 391428 ENSG00000231926 OTTHUMG00000153272 NG_021519 PGOHUM00000240268 HGNC:42167 +HGNC:19686 SEPHS2 selenophosphate synthetase 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "SPS2|SPS2b" selenoprotein SEPHS2 Selenoproteins 890 2003-12-19 2020-08-14 22928 ENSG00000179918 OTTHUMG00000176988 uc284nvr.1 BC002381 NM_012248 CCDS42150 Q99611 10608886 MGI:108388 RGD:1308827 606218 HGNC:19686 "ENST00000478753.5|NM_012248.4" +HGNC:42165 SEPHS2P1 selenophosphate synthetase 2 pseudogene 1 pseudogene pseudogene Approved 5p15.2 05p15.2 SEPHS1P5 selenophosphate synthetase 1 pseudogene 5 2011-06-06 2013-08-19 2013-08-19 2014-11-18 100420190 ENSG00000250247 OTTHUMG00000161763 NG_024654 PGOHUM00000235507 HGNC:42165 +HGNC:30605 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "SLA/LP|SLA|SLA-p35|SecS" "soluble liver antigen/liver pancreas antigen|O-phosphoseryl-tRNA(Sec) selenium transferase" 2007-05-01 2021-12-08 51091 ENSG00000109618 OTTHUMG00000128563 uc003grg.4 AJ238617 NM_016955 CCDS3432 Q9HD40 "16230358|10931155|17142313|17194211|19608919" MGI:1098791 RGD:1589491 613009 251270 2.9.1.2 HGNC:30605 "ENST00000382103.7|NM_016955.4" HGNC:30605 +HGNC:27737 SEPSECS-AS1 SEPSECS antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 4p15.2 04p15.2 Antisense RNAs 1987 2013-10-09 2017-10-26 285540 ENSG00000281501 OTTHUMG00000189520 AK095450 NR_037934 SEPSECS-AS1 HGNC:27737 +HGNC:2879 SEPTIN1 septin 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 PNUTL3 "DIFF6|SEPT1" Septins 732 1996-04-17 2019-04-04 2019-09-05 1731 ENSG00000180096 OTTHUMG00000176984 uc002dxy.5 AF308288 NM_052838 CCDS10678 Q8WYJ6 8697812 MGI:1858916 RGD:1307216 612897 3.1.5.1 HGNC:2879 "ENST00000321367.8|NM_001365977.2" +HGNC:7729 SEPTIN2 septin 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "KIAA0158|hNedd5|Pnutl3" "DIFF6|NEDD5|SEPT2" neural precursor cell expressed, developmentally down-regulated 5 Septins 732 1994-01-21 2019-04-04 2005-01-11 2019-09-05 4735 ENSG00000168385 OTTHUMG00000133394 uc002wbd.5 D28540 NM_006155 "CCDS86930|CCDS2548|CCDS63195|CCDS74682" Q15019 8697812 MGI:97298 RGD:620056 601506 HGNC:7729 "ENST00000391971.7|NM_004404.5" +HGNC:40017 SEPTIN2P1 septin 2 pseudogene 1 pseudogene pseudogene Approved 1p21.1 01p21.1 SEPT2P1 2011-05-03 2019-04-04 2019-04-04 100873333 ENSG00000227850 OTTHUMG00000011007 NG_032370 PGOHUM00000244828 HGNC:40017 +HGNC:10750 SEPTIN3 septin 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "SEP3|SEPT3" Septins 732 2000-07-31 2019-04-04 2019-09-05 55964 ENSG00000100167 OTTHUMG00000030494 uc003bbr.5 AF285107 NM_145734 "CCDS14027|CCDS87030|CCDS14026" Q9UH03 MGI:1345148 RGD:621745 608314 HGNC:10750 "ENST00000644076.2|NM_001363845.2" +HGNC:9165 SEPTIN4 septin 4 protein-coding gene gene with protein product Approved 17q22 17q22 "H5|CE5B3|hucep-7|ARTS|hCDCREL-2|MART|FLJ40121" "bradeoin|septin-M" "PNUTL2|C17orf47|SEPT4" "peanut-like 2 (Drosophila)|chromosome 17 open reading frame 47" Septins 732 1998-07-15 2019-04-04 2005-01-11 2019-09-05 5414 ENSG00000108387 OTTHUMG00000179243 uc010wnx.3 AF073312 NM_080417 "CCDS58582|CCDS32691|CCDS86620|CCDS58581|CCDS45743|CCDS56041|CCDS11609|CCDS11610" O43236 9889007 MGI:1270156 RGD:1308781 603696 HGNC:9165 "ENST00000672673.2|NM_001368771.2" +HGNC:51345 SEPTIN4-AS1 SEPTIN4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q22 17q22 SEPT4-AS1 SEPT4 antisense RNA 1 Antisense RNAs 1987 2014-10-10 2019-04-04 2019-12-10 2019-12-10 101927688 ENSG00000264672 OTTHUMG00000179242 "CK429595|BX092197|BQ072540" NR_110810 SEPT4-AS1 HGNC:51345 +HGNC:9164 SEPTIN5 septin 5 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "HCDCREL-1|H5" "PNUTL1|SEPT5" peanut-like 1 (Drosophila) Septins 732 1998-07-15 2019-04-04 2005-01-11 2019-09-05 5413 ENSG00000184702 OTTHUMG00000150399 uc002zpv.3 Y11593 NM_002688 "CCDS13764|CCDS56224" Q99719 "9385360|9611266" MGI:1195461 RGD:621763 602724 HGNC:9164 "ENST00000455784.7|NM_002688.6" +HGNC:15848 SEPTIN6 septin 6 protein-coding gene gene with protein product Approved Xq24 Xq24 "KIAA0128|SEP2|SEPT2|MGC16619|MGC20339" SEPT6 "Septins|MicroRNA protein coding host genes" "732|1691" 2004-01-29 2019-04-04 2020-04-02 23157 ENSG00000125354 OTTHUMG00000022280 uc004ert.4 D50918 NM_145802 "CCDS14583|CCDS14584|CCDS14585" Q14141 "8590280|10744683" MGI:1888939 RGD:1585082 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SEPT6 300683 HGNC:15848 "ENST00000394610.7|NM_145799.4" +HGNC:1717 SEPTIN7 septin 7 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 "CDC3|SEPT7A" "CDC10|SEPT7" CDC10 cell division cycle 10 homolog (S. cerevisiae) Septins 732 1995-02-08 2019-04-04 2005-01-11 2019-09-05 989 ENSG00000122545 OTTHUMG00000155063 uc064ctx.2 S72008 NM_001788 "CCDS75582|CCDS87494" Q16181 8037772 MGI:1335094 RGD:620469 603151 HGNC:1717 "ENST00000350320.11|NM_001788.6" +HGNC:51153 SEPTIN7-DT SEPTIN7 divergent transcript non-coding RNA RNA, long non-coding Approved 7p14.2 07p14.2 "SEPT7-AS1|SEPTIN7-AS1" SEPT7 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-07-30 2019-12-11 2019-12-11 2019-12-11 101928545 ENSG00000228878 OTTHUMG00000155061 NR_120511 SEPT7-AS1 HGNC:51153 +HGNC:19926 SEPTIN7P1 septin 7 pseudogene 1 pseudogene pseudogene Approved 14q13.2 14q13.2 "CDC10P|SEPT7P1" CDC10 cell division cycle 10 homolog (S. cerevisiae) pseudogene 2003-01-13 2019-04-04 2010-03-24 2019-04-04 317774 ENSG00000259090 OTTHUMG00000171026 NG_002472 PGOHUM00000292321 HGNC:19926 +HGNC:32339 SEPTIN7P2 septin 7 pseudogene 2 pseudogene pseudogene Approved 7p12.3 07p12.3 DKFZp313J1114 "SEPT7B|SEPT13|SEPT7P2" "septin 7B|septin 13" 2005-10-13 2019-04-04 2010-03-24 2020-04-20 641977 ENSG00000214765 OTTHUMG00000155423 AL133216 NR_024271 15915442 611563 HGNC:32339 +HGNC:38038 SEPTIN7P3 septin 7 pseudogene 3 pseudogene pseudogene Approved 7p14.2 07p14.2 SEPT7P3 2010-03-24 2019-04-04 2019-04-04 646913 ENSG00000226102 OTTHUMG00000155062 NG_008036 HGNC:38038 +HGNC:38039 SEPTIN7P4 septin 7 pseudogene 4 pseudogene pseudogene Approved 7q11.21 07q11.21 SEPT7P4 2010-03-24 2019-04-04 2020-06-19 100418715 ENSG00000240651 OTTHUMG00000156262 NG_022539 PGOHUM00000232781 HGNC:38039 +HGNC:38041 SEPTIN7P5 septin 7 pseudogene 5 pseudogene pseudogene Approved 7q11.21 07q11.21 SEPT7P5 2010-03-25 2019-04-04 2020-06-19 100418718 ENSG00000164740 OTTHUMG00000156390 NG_022560 PGOHUM00000233322 HGNC:38041 +HGNC:38042 SEPTIN7P6 septin 7 pseudogene 6 pseudogene pseudogene Approved 7q36.1 07q36.1 SEPT7P6 2010-03-25 2019-04-04 2020-06-19 100418720 ENSG00000241007 OTTHUMG00000157523 NG_033948 PGOHUM00000233652 HGNC:38042 +HGNC:38043 SEPTIN7P7 septin 7 pseudogene 7 pseudogene pseudogene Approved 9q22.33 09q22.33 SEPT7P7 2010-03-25 2019-04-04 2020-06-19 100130564 ENSG00000229897 OTTHUMG00000020344 NG_021463 PGOHUM00000236732 HGNC:38043 +HGNC:38044 SEPTIN7P8 septin 7 pseudogene 8 pseudogene pseudogene Approved 19q13.42 19q13.42 SEPT7P8 2010-03-25 2019-04-04 2020-06-19 100418735 ENSG00000229000 OTTHUMG00000060777 NG_021752 PGOHUM00000234421 HGNC:38044 +HGNC:30810 SEPTIN7P9 septin 7 pseudogene 9 pseudogene pseudogene Approved 10p11.1 10p11.1 bA291L22.2 "CDC10L|SEPT7L|SEPT7P9" "CDC10 cell division cycle 10 homolog (S. cerevisiae) like|CDC10 cell division cycle 10 homolog (S. cerevisiae)-like|septin 7-like" 2004-04-29 2019-04-04 2013-04-02 2019-04-04 285961 ENSG00000120555 OTTHUMG00000017994 NR_027269 HGNC:30810 +HGNC:55089 SEPTIN7P10 septin 7 pseudogene 10 pseudogene pseudogene Approved 5q23.1 05q23.1 2020-06-19 2020-06-19 100418707 ENSG00000248885 NG_024624 PGOHUM00000300726 +HGNC:55090 SEPTIN7P11 septin 7 pseudogene 11 pseudogene pseudogene Approved 11p11.12 11p11.12 2020-06-19 2020-06-19 441601 ENSG00000255042 NR_003034 PGOHUM00000290484 +HGNC:55091 SEPTIN7P12 septin 7 pseudogene 12 pseudogene pseudogene Approved 17q23.2 17q23.2 2020-06-19 2020-06-19 100418753 ENSG00000275562 NG_026258 +HGNC:55092 SEPTIN7P13 septin 7 pseudogene 13 pseudogene pseudogene Approved 1q42.11 01q42.11 2020-06-19 2020-06-19 100287497 ENSG00000185495 NR_136590 PGOHUM00000296783 +HGNC:44219 SEPTIN7P14 septin 7 pseudogene 14 pseudogene pseudogene Approved 4q26 04q26 2020-06-19 2020-06-19 645513 ENSG00000245958 OTTHUMG00000160571 NR_037630 +HGNC:55096 SEPTIN7P15 septin 7 pseudogene 15 pseudogene pseudogene Approved 7p11.2 07p11.2 2020-06-19 2020-09-08 100418714 ENSG00000275061 NG_026471 PGOHUM00000302196 +HGNC:16511 SEPTIN8 septin 8 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "KIAA0202|SEP2" SEPT8 Septins 732 2004-01-29 2019-04-04 2019-09-05 23176 ENSG00000164402 OTTHUMG00000059735 uc003kxs.2 AF179995 NM_001098811 "CCDS43359|CCDS43358|CCDS43360|CCDS47262|CCDS75298" Q92599 "9039502|9149945" MGI:894310 RGD:1308449 608418 HGNC:16511 "ENST00000378719.7|NM_001098811.2" +HGNC:7323 SEPTIN9 septin 9 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MSF1|KIAA0991|PNUTL4|AF17q25|SeptD1" Ov/Br septin "MSF|SEPT9" MLL septin-like fusion Septins 732 2000-02-28 2019-04-04 2005-01-11 2021-05-26 10801 ENSG00000184640 OTTHUMG00000177327 uc002jts.5 AB023208 NM_006640 "CCDS74166|CCDS45791|CCDS77122|CCDS45793|CCDS45792|CCDS45790|CCDS45795" Q9UHD8 "10339604|10485469" MGI:1858222 RGD:708523 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_370|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_370.xml" 604061 117605 HGNC:7323 "ENST00000427177.6|NM_001113491.2" +HGNC:52818 SEPTIN9-DT SEPTIN9 divergent transcript non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Divergent transcripts 1990 2019-06-17 2019-06-17 105371907 ENSG00000263718 OTTHUMG00000177704 NR_136503 HGNC:52818 +HGNC:14349 SEPTIN10 septin 10 protein-coding gene gene with protein product Approved 2q13 02q13 FLJ11619 sept1-like SEPT10 Septins 732 2003-05-12 2019-04-04 2019-09-05 151011 ENSG00000186522 OTTHUMG00000154957 uc002tex.5 AF146760 NM_144710 "CCDS82496|CCDS82497|CCDS42726|CCDS46383" Q9P0V9 12711328 MGI:1918110 RGD:1359307 611737 HGNC:14349 "ENST00000397712.7|NM_144710.5" +HGNC:40018 SEPTIN10P1 septin 10 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 SEPT10P1 2011-05-03 2019-04-04 2019-04-04 389662 ENSG00000253541 OTTHUMG00000164411 NG_022390 PGOHUM00000303215 HGNC:40018 +HGNC:25589 SEPTIN11 septin 11 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 FLJ10849 SEPT11 Septins 732 2004-06-22 2019-04-04 2019-09-05 55752 ENSG00000138758 OTTHUMG00000160854 uc003hkj.4 AK001711 NM_018243 "CCDS77931|CCDS34018" Q9NVA2 "14999297|15140406" MGI:1277214 RGD:1307405 612887 HGNC:25589 "ENST00000264893.11|NM_018243.4" +HGNC:26348 SEPTIN12 septin 12 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ25410 SEPT12 Septins 732 2006-11-13 2019-04-04 2021-12-08 124404 ENSG00000140623 OTTHUMG00000129481 uc002cxq.4 AK058139 NM_144605 "CCDS10522|CCDS53987" Q8IYM1 "14611653|15915442" MGI:1918339 RGD:1565511 611562 408642 HGNC:26348 "ENST00000268231.13|NM_144605.5" HGNC:26348 +HGNC:33280 SEPTIN14 septin 14 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 FLJ44060 SEPT14 Septins 732 2007-05-01 2019-04-04 2019-09-05 346288 ENSG00000154997 OTTHUMG00000129341 uc003tqz.2 AK126048 NM_207366 CCDS5519 Q6ZU15 MGI:1921472 RGD:1596186 612140 369815 HGNC:33280 "ENST00000388975.4|NM_207366.3" +HGNC:51685 SEPTIN14P1 septin 14 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 SEPT14P1 2015-05-08 2019-04-04 2019-04-04 106480340 ENSG00000231523 OTTHUMG00000156275 NG_044583 PGOHUM00000302217 HGNC:51685 +HGNC:51686 SEPTIN14P2 septin 14 pseudogene 2 pseudogene pseudogene Approved 2q37.3 02q37.3 SEPT14P2 2015-05-08 2019-04-04 2019-04-04 107105263 ENSG00000244528 OTTHUMG00000152146 NG_046580 PGOHUM00000306038 HGNC:51686 +HGNC:51687 SEPTIN14P3 septin 14 pseudogene 3 pseudogene pseudogene Approved 3q29 03q29 SEPT14P3 2015-05-08 2019-04-04 2019-04-04 107105265 ENSG00000226008 OTTHUMG00000155430 NG_046583 PGOHUM00000299721 HGNC:51687 +HGNC:51688 SEPTIN14P4 septin 14 pseudogene 4 pseudogene pseudogene Approved 4q26 04q26 SEPT14P4 2015-05-08 2019-04-04 2019-04-04 107105266 ENSG00000251155 OTTHUMG00000161210 NG_046584 PGOHUM00000300350 HGNC:51688 +HGNC:51689 SEPTIN14P5 septin 14 pseudogene 5 pseudogene pseudogene Approved 5q35.3 05q35.3 SEPT14P5 2015-05-08 2019-04-04 2020-06-17 107105276 ENSG00000250765 NG_046594 PGOHUM00000306068 HGNC:51689 +HGNC:51690 SEPTIN14P6 septin 14 pseudogene 6 pseudogene pseudogene Approved 6p25.3 06p25.3 dJ24O22.2 "SEPT14P6|LINC00266-3|C6orf88|NCRNA00266C|NCRNA00266-3" "long intergenic non-protein coding RNA 266-3|chromosome 6 open reading frame 88|non-protein coding RNA 266C|non-protein coding RNA 266-3" 2015-05-08 2019-04-04 2022-01-10 107105278 ENSG00000217929 NR_109817 PGOHUM00000306069 HGNC:51690 +HGNC:51691 SEPTIN14P7 septin 14 pseudogene 7 pseudogene pseudogene Approved 7p12.3 07p12.3 SEPT14P7 2015-05-08 2019-04-04 2020-04-06 107105280 NG_046605 PGOHUM00000302616 HGNC:51691 +HGNC:51692 SEPTIN14P8 septin 14 pseudogene 8 pseudogene pseudogene Approved 8p23.3 08p23.3 SEPT14P8 2015-05-08 2019-04-04 2019-04-04 106480341 ENSG00000255464 OTTHUMG00000160541 NG_044593 PGOHUM00000306138 HGNC:51692 +HGNC:51697 SEPTIN14P10 septin 14 pseudogene 10 pseudogene pseudogene Approved 10p11.1 10p11.1 SEPT14P10 2015-05-08 2019-04-04 2019-04-04 107105352 NG_046611 PGOHUM00000305860 HGNC:51697 +HGNC:51698 SEPTIN14P11 septin 14 pseudogene 11 pseudogene pseudogene Approved 11p15.5 11p15.5 SEPT14P11 2015-05-08 2019-04-04 2019-04-04 107105353 NG_046612 PGOHUM00000305863 HGNC:51698 +HGNC:51699 SEPTIN14P12 septin 14 pseudogene 12 pseudogene pseudogene Approved 1q31.3 01q31.3 SEPT14P12 2015-05-08 2019-04-04 2019-04-04 106480343 ENSG00000235748 OTTHUMG00000057657 NG_045908 PGOHUM00000296004 HGNC:51699 +HGNC:51700 SEPTIN14P13 septin 14 pseudogene 13 pseudogene pseudogene Approved 1p36.33 01p36.33 SEPT14P13 2015-05-08 2019-04-04 2019-04-04 106481733 ENSG00000224813 OTTHUMG00000002857 NG_043478 PGOHUM00000305952 HGNC:51700 +HGNC:51701 SEPTIN14P14 septin 14 pseudogene 14 pseudogene pseudogene Approved 1p36.33 01p36.33 SEPT14P14 2015-05-08 2019-04-04 2019-04-04 107105354 NG_046613 PGOHUM00000305955 HGNC:51701 +HGNC:51702 SEPTIN14P15 septin 14 pseudogene 15 pseudogene pseudogene Approved 1q42.11 01q42.11 SEPT14P15 2015-05-08 2019-04-04 2019-04-04 107126282 NG_046617 PGOHUM00000305965 HGNC:51702 +HGNC:51704 SEPTIN14P16 septin 14 pseudogene 16 pseudogene pseudogene Approved 16q24.3 16q24.3 SEPT14P16 2015-05-08 2019-04-04 2019-04-04 107126283 NG_046618 PGOHUM00000305929 HGNC:51704 +HGNC:51703 SEPTIN14P17 septin 14 pseudogene 17 pseudogene pseudogene Approved 1q42.13 01q42.13 SEPT14P17 2015-05-08 2019-04-04 2019-04-04 106480344 ENSG00000274886 OTTHUMG00000187550 NG_045912 PGOHUM00000296803 HGNC:51703 +HGNC:51705 SEPTIN14P18 septin 14 pseudogene 18 pseudogene pseudogene Approved 1p36.33 01p36.33 SEPT14P18 2015-05-08 2019-04-04 2019-04-04 107126284 NG_046619 PGOHUM00000305948 HGNC:51705 +HGNC:51707 SEPTIN14P19 septin 14 pseudogene 19 pseudogene pseudogene Approved 19p13.3 19p13.3 SEPT14P19 2015-05-08 2019-04-04 2019-04-04 107105271 ENSG00000281379 OTTHUMG00000180460 NG_046590 HGNC:51707 +HGNC:51706 SEPTIN14P20 septin 14 pseudogene 20 pseudogene pseudogene Approved 20q13.33 20q13.33 "bA476I15.3|RBRP" RNA-binding regulatory peptide "SEPT14P20|LINC00266-1|C20orf69|NCRNA00266|NCRNA00266-1" "long intergenic non-protein coding RNA 266-1|chromosome 20 open reading frame 69|non-protein coding RNA 266|non-protein coding RNA 266-1" 2015-05-08 2019-04-04 2022-03-24 107126285 NR_040415 32245947 PGOHUM00000297154 HGNC:51706 +HGNC:51712 SEPTIN14P21 septin 14 pseudogene 21 pseudogene pseudogene Approved 1q43 01q43 SEPT14P21 2015-05-18 2019-04-04 2019-04-04 107075107 ENSG00000231512 OTTHUMG00000191545 NG_046555 HGNC:51712 +HGNC:51708 SEPTIN14P22 septin 14 pseudogene 22 pseudogene pseudogene Approved Yq11.23 Yq11.23 SEPT14P22 2015-05-08 2019-04-04 2022-01-10 100287785 ENSG00000248792 NG_029403 PGOHUM00000306237 HGNC:51708 +HGNC:51709 SEPTIN14P23 septin 14 pseudogene 23 pseudogene pseudogene Approved Yq11.23 Yq11.23 NCRNA00266Y2 "SEPT14P23|LINC00266-4P|NCRNA00266D|NCRNA00266-4P" "long intergenic non-protein coding RNA 266-4, pseudogene|non-protein coding RNA 266D|non-protein coding RNA 266-4, pseudogene" 2015-05-08 2019-04-04 2022-01-10 107126290 ENSG00000228786 NR_174182 PGOHUM00000306206 HGNC:51709 +HGNC:51710 SEPTIN14P24 septin 14 pseudogene 24 pseudogene pseudogene Approved 7p11.2 07p11.2 SEPT14P24 2015-05-08 2019-04-04 2019-04-04 106480345 ENSG00000231299 OTTHUMG00000156225 NG_044627 PGOHUM00000302158 HGNC:51710 +HGNC:21061 SERAC1 serine active site containing 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 FLJ14917 Armadillo like helical domain containing 1492 2003-05-12 2021-05-26 84947 ENSG00000122335 OTTHUMG00000015905 uc003qrc.3 BC001705 NM_032861 CCDS5255 Q96JX3 22683713 MGI:2447813 RGD:1565064 614725 356228 HGNC:21061 "ENST00000647468.2|NM_032861.4" HGNC:21061 +HGNC:17860 SERBP1 SERPINE1 mRNA binding protein 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "PAI-RBP1|DKFZP564M2423|CGI-55|HABP4L|PAIRBP1|CHD3IP" 2005-09-15 2016-10-05 26135 ENSG00000142864 OTTHUMG00000009372 uc001ddy.4 AF151813 NM_001018067 "CCDS30748|CCDS30747|CCDS639|CCDS30746" Q8NC51 "11001948|10810093|18440126|17698176" MGI:1914120 RGD:619907 607378 HGNC:17860 "ENST00000361219.11|NM_001018069.2" +HGNC:32247 SERBP1P1 SERPINE1 mRNA binding protein 1 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 SERBP1P SERPINE1 mRNA binding protein 1 pseudogene 2005-09-15 2009-12-17 2009-12-17 2012-11-21 389866 ENSG00000213740 OTTHUMG00000021750 NG_005103 PGOHUM00000241829 HGNC:32247 +HGNC:23967 SERBP1P2 SERPINE1 mRNA binding protein 1 pseudogene 2 pseudogene pseudogene Approved Yp11.2 Yp11.2 PAI 1 mRNA binding protein pseudogene 2009-12-17 2014-11-19 359996 ENSG00000225878 OTTHUMG00000036215 NG_002917 12815422 PGOHUM00000233670 HGNC:23967 +HGNC:44630 SERBP1P3 SERPINE1 mRNA binding protein 1 pseudogene 3 pseudogene pseudogene Approved 3p21.1 03p21.1 2012-11-23 2012-11-23 553148 ENSG00000242142 OTTHUMG00000159077 NG_005109 PGOHUM00000237630 HGNC:44630 +HGNC:44631 SERBP1P4 SERPINE1 mRNA binding protein 1 pseudogene 4 pseudogene pseudogene Approved Xq21.31 Xq21.31 2012-11-23 2012-11-23 100132591 ENSG00000230275 OTTHUMG00000021962 NG_022620 PGOHUM00000241442 HGNC:44631 +HGNC:44632 SERBP1P5 SERPINE1 mRNA binding protein 1 pseudogene 5 pseudogene pseudogene Approved 4q21.21 04q21.21 2012-11-23 2012-11-23 442112 ENSG00000249565 OTTHUMG00000160901 NG_005107 PGOHUM00000245605 HGNC:44632 +HGNC:44635 SERBP1P6 SERPINE1 mRNA binding protein 1 pseudogene 6 pseudogene pseudogene Approved 5p13.1 05p13.1 2012-11-23 2012-11-23 2014-02-12 100420450 ENSG00000248873 OTTHUMG00000162137 NG_024590 PGOHUM00000235205 HGNC:44635 +HGNC:10755 SERF1A small EDRK-rich factor 1A protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "H4F5|4F5|FAM2A|SMAM1" "SMA modifier 1|spinal muscular atrophy-related gene H4F5" SERF1 small EDRK-rich factor 1A (telomeric) 1999-06-01 2016-06-06 2016-10-05 8293 ENSG00000172058 OTTHUMG00000162419 uc003mqa.4 AF073518 NM_021967 "CCDS47229|CCDS47228" O75920 9731538 MGI:1337114 RGD:1565105 603011 HGNC:10755 "ENST00000317633.14|NM_022968.2" +HGNC:44061 SERF1AP1 small EDRK-rich factor 1A pseudogene 1 pseudogene pseudogene Approved 4q28.3 04q28.3 small EDRK-rich factor 1A (telomeric) pseudogene 1 2012-05-30 2016-06-06 2016-06-06 100131921 ENSG00000250813 OTTHUMG00000161250 NG_030215 PGOHUM00000245705 HGNC:44061 +HGNC:10756 SERF1B small EDRK-rich factor 1B protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "FAM2B|H4F5C" small EDRK-rich factor 1B (centromeric) 2000-09-01 2016-06-06 2016-10-05 728492 ENSG00000205572 OTTHUMG00000162391 uc003jxz.4 NM_022978 "CCDS54866|CCDS43326" O75920 MGI:1337114 HGNC:10756 "ENST00000380750.8|NM_022978.3" +HGNC:10757 SERF2 small EDRK-rich factor 2 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "H4F5rel|4F5REL|FAM2C|HsT17089" 1999-06-01 2016-10-05 10169 ENSG00000140264 OTTHUMG00000059935 uc001zsz.5 AF073298 NM_005770 "CCDS55963|CCDS55965|CCDS55964|CCDS32218" P84101 9731538 MGI:1337041 RGD:1588368 605054 HGNC:10757 "ENST00000249786.9|NM_001018108.4" +HGNC:17499 SERGEF secretion regulating guanine nucleotide exchange factor protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "DelGEF|Gnefr" 2006-02-22 2016-10-05 26297 ENSG00000129158 OTTHUMG00000166420 uc001mnm.5 AJ243950 NM_012139 CCDS7828 Q9UGK8 "10571079|12459492" MGI:1351630 RGD:1563497 606051 HGNC:17499 "ENST00000265965.10|NM_012139.4" +HGNC:14408 SERHL serine hydrolase like (pseudogene) pseudogene pseudogene Approved 22q13.2 22q13.2 "HS126B42|BK126B4.1|dJ222E13.1" kraken-like serine hydrolase-like 2001-02-08 2019-02-18 2021-10-07 94009 ENSG00000172250 OTTHUMG00000150888 uc011apl.3 AL365513 NR_027786 Q9NQF3 11352564 MGI:1890404 607979 S33.012 HGNC:14408 +HGNC:29446 SERHL2 serine hydrolase like 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 2005-04-05 2017-02-21 2017-02-21 253190 ENSG00000183569 OTTHUMG00000150892 uc003bcr.5 NM_014509 "CCDS14037|CCDS63498" Q9H4I8 MGI:1890404 RGD:1563386 619045 HGNC:29446 "ENST00000327678.10|NM_014509.5" +HGNC:13464 SERINC1 serine incorporator 1 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "TMS-2|TDE1L|KIAA1253" TDE2 tumor differentially expressed 2 2003-08-21 2005-10-14 2005-10-14 2016-10-05 57515 ENSG00000111897 OTTHUMG00000015487 uc003pyy.2 AF087902 NM_020755 CCDS5125 Q9NRX5 10637174 MGI:1926228 RGD:727843 614548 HGNC:13464 "ENST00000339697.5|NM_020755.4" +HGNC:23231 SERINC2 serine incorporator 2 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "FKSG84|PRO0899|TDE2" TDE2L tumor differentially expressed 2-like 2003-10-23 2005-11-01 2005-11-01 2016-10-05 347735 ENSG00000168528 OTTHUMG00000003796 uc001bst.4 AY094595 NM_018565 "CCDS55585|CCDS30662|CCDS55583|CCDS55584" Q96SA4 12949800 MGI:1919132 RGD:1311396 614549 HGNC:23231 "ENST00000373709.8|NM_178865.5" +HGNC:11699 SERINC3 serine incorporator 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "DIFF33|TDE|SBBI99|TMS-1|AIGP1" TDE1 tumor differentially expressed 1 1999-12-07 2005-11-15 2005-11-15 2014-11-19 10955 ENSG00000132824 OTTHUMG00000033087 uc002xme.4 U49188 NM_006811 CCDS13333 Q13530 10559794 MGI:1349457 RGD:1308390 607165 HGNC:11699 "ENST00000342374.5|NM_006811.4" +HGNC:32237 SERINC4 serine incorporator 4 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 FLJ40363 2005-09-06 2015-08-25 619189 ENSG00000184716 OTTHUMG00000060144 uc031qrp.2 DQ103711 NM_001258031 CCDS58360 A6NH21 MGI:2441842 RGD:1566077 614550 HGNC:32237 "ENST00000319327.7|NM_001258031.2" +HGNC:18825 SERINC5 serine incorporator 5 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 TPO1 C5orf12 chromosome 5 open reading frame 12 2002-07-22 2005-10-14 2005-10-14 2016-10-25 256987 ENSG00000164300 OTTHUMG00000162563 uc011ctj.2 AF498273 NM_178276 "CCDS83009|CCDS54874" Q86VE9 12688535 MGI:2444223 RGD:621571 614551 HGNC:18825 "ENST00000507668.7|NM_001174072.3" +HGNC:10759 SERP1 stress associated endoplasmic reticulum protein 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "RAMP4|FLJ43424" ribosome associated membrane protein 4 1988-01-18 2016-08-09 2016-08-09 27230 ENSG00000120742 OTTHUMG00000159769 uc062ozv.1 AK125413 NM_014445 CCDS3150 Q9Y6X1 "10601334|11230166" MGI:92638 RGD:620790 617674 HGNC:10759 "ENST00000239944.7|NM_014445.4" +HGNC:20607 SERP2 stress associated endoplasmic reticulum protein family member 2 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 bA269C23.1 C13orf21 chromosome 13 open reading frame 21 2004-04-16 2007-12-07 2016-08-09 2016-08-09 387923 ENSG00000151778 OTTHUMG00000016833 uc001uzj.3 BC029067 NM_001010897 CCDS31965 Q8N6R1 MGI:1919911 RGD:1566076 HGNC:20607 "ENST00000379179.8|NM_001010897.3" +HGNC:8941 SERPINA1 serpin family A member 1 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "AAT|A1A|PI1|alpha-1-antitrypsin|A1AT|alpha1AT" "protease inhibitor 1|anti-elastase|alpha-1 antitrypsin|alpha-1 proteinase inhibitor" PI "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1" Serpin peptidase inhibitors 739 1986-01-01 2016-04-06 2021-05-26 5265 ENSG00000197249 OTTHUMG00000150355 uc010auy.3 X01683 NM_001002235 CCDS9925 P01009 24172014 "MGI:891967|MGI:891968|MGI:891969|MGI:891970|MGI:891971" RGD:3326 LRG_575|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_575.xml 107400 118602 I04.001 HGNC:8941 "ENST00000393087.9|NM_000295.5" HGNC:8941 +HGNC:8985 SERPINA2 serpin family A member 2 (gene/pseudogene) protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "ATR|ARGS" "protease inhibitor 1 (alpha-1-antitrypsin)-like|alpha-1 antitrypsin-related protein" "PIL|SERPINA2P" "serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2, pseudogene|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 (gene/pseudogene)" Serpin peptidase inhibitors 739 2001-06-22 2014-02-18 2016-04-06 2021-04-26 390502 ENSG00000258597 OTTHUMG00000171347 JX680599 NM_006220 P20848 "15014966|23826168|24172014" MGI:1915598 RGD:1307899 107410 PGOHUM00000258748 I04.952 HGNC:8985 +HGNC:16 SERPINA3 serpin family A member 3 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 ACT alpha-1 antichymotrypsin AACT "alpha-1-antichymotrypsin|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3" Serpin peptidase inhibitors 739 2001-06-22 2016-04-06 2021-05-26 12 ENSG00000196136 OTTHUMG00000029851 uc001yds.4 K01500 NM_001085 CCDS32150 P01011 "3260956|24172014" "MGI:102848|MGI:105045|MGI:105046|MGI:1921319|MGI:2182835|MGI:2182838|MGI:2182841|MGI:2182843|MGI:98377|MGI:98378" RGD:735068 107280 200946 I04.002 HGNC:16 "ENST00000393078.5|NM_001085.5" +HGNC:8948 SERPINA4 serpin family A member 4 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "KST|KAL|KLST" kallistatin PI4 "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4|sserpin family A member 4" Serpin peptidase inhibitors 739 1994-05-11 2016-04-12 2021-04-26 5267 ENSG00000100665 OTTHUMG00000170859 uc001ydk.5 L19684 NM_006215 CCDS9927 P29622 "8227002|24172014" RGD:708581 147935 I04.003 HGNC:8948 "ENST00000557004.6|NM_006215.4" +HGNC:8723 SERPINA5 serpin family A member 5 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "PAI3|PROCI" Protein C inhibitor "PLANH3|PCI" "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5" Serpin peptidase inhibitors 739 1992-10-02 2016-04-06 2021-04-26 5104 ENSG00000188488 OTTHUMG00000170860 uc059eta.1 M68516 NM_000624 CCDS9928 P05154 "1714450|8381582|24172014" MGI:107817 RGD:619817 LRG_644|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_644.xml 601841 I04.004 HGNC:8723 "ENST00000329597.12|NM_000624.6" +HGNC:1540 SERPINA6 serpin family A member 6 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "corticosteroid binding globulin|transcortin" CBG "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6" Serpin peptidase inhibitors 739 1991-08-08 2016-04-06 2020-09-17 866 ENSG00000170099 OTTHUMG00000171346 uc001ycv.4 J02943 NM_001756 CCDS9924 P08185 "3299377|7912884|24172014" MGI:88278 RGD:1595901 122500 201291 I04.954 HGNC:1540 "ENST00000341584.4|NM_001756.4" HGNC:1540 +HGNC:11583 SERPINA7 serpin family A member 7 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "thyroxin-binding globulin|thyroxine-binding globulin|alpha-1 antiproteinase, antitrypsin" TBG "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7" Serpin peptidase inhibitors 739 1986-01-01 2016-04-06 2021-05-26 6906 ENSG00000123561 OTTHUMG00000022144 uc004eme.3 M14091 NM_000354 CCDS14518 P05543 24172014 MGI:3041197 RGD:619833 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SERPINA7 314200 212874 I04.955 HGNC:11583 "ENST00000372563.2|NM_000354.6" +HGNC:44398 SERPINA7P1 serpin family A member 7 pseudogene 1 pseudogene pseudogene Approved Xq22.3 Xq22.3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 pseudogene 1 2014-02-14 2016-04-06 2016-04-06 100422644 ENSG00000227657 OTTHUMG00000022149 NG_026747 24172014 PGOHUM00000241493 HGNC:44398 +HGNC:15995 SERPINA9 serpin family A member 9 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "SERPINA11b|GCET1" Centerin "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9" Serpin peptidase inhibitors 739 2001-06-27 2016-04-06 2021-04-26 327657 ENSG00000170054 OTTHUMG00000167710 uc001ydf.4 AY185497 NM_175739 CCDS61542 Q86WD7 24172014 MGI:1919157 RGD:1304789 615677 I04.082 HGNC:15995 "ENST00000674397.2|NM_175739.4" +HGNC:15996 SERPINA10 serpin family A member 10 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "PZI|ZPI" Protein-Z dependent proteinase inhibitor "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10" Serpin peptidase inhibitors 739 2001-06-27 2016-04-06 2021-04-26 51156 ENSG00000140093 OTTHUMG00000171345 uc001ycu.6 AF181467 NM_016186 CCDS9923 Q9UK55 "10460162|9689066|24172014" MGI:2667725 RGD:621220 LRG_576|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_576.xml 605271 462050 I04.005 HGNC:15996 "ENST00000261994.9|NM_001100607.3" +HGNC:19193 SERPINA11 serpin family A member 11 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11" Serpin peptidase inhibitors 739 2004-05-21 2016-04-06 2016-04-06 256394 ENSG00000186910 OTTHUMG00000171348 uc001ydd.2 BX248259 NM_001080451 CCDS32149 Q86U17 "15014966|24172014" MGI:2685741 RGD:1359239 619619 HGNC:19193 "ENST00000334708.4|NM_001080451.2" +HGNC:18359 SERPINA12 serpin family A member 12 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 OL-64 Vaspin "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12" Serpin peptidase inhibitors 739 2004-05-21 2016-04-06 2021-04-26 145264 ENSG00000165953 OTTHUMG00000171349 uc001ydj.3 AY177692 NM_173850 CCDS9926 Q8IW75 24172014 MGI:1915304 RGD:708485 617471 I04.091 HGNC:18359 "ENST00000677451.1|NM_001382267.1" HGNC:18359 +HGNC:30909 SERPINA13P serpin family A member 13, pseudogene pseudogene pseudogene Approved 14q32.13 14q32.13 UNQ6121 SERPINA13 "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13|serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene" Serpin peptidase inhibitors 739 2004-06-15 2012-10-03 2016-04-06 2016-04-06 388007 ENSG00000187483 OTTHUMG00000150191 AY358238 NR_015340 Q6UXR4 "15014966|16395595|24172014" PGOHUM00000250153 I04.966 HGNC:30909 +HGNC:44397 SERPINA15P serpin family A member 15, pseudogene pseudogene pseudogene Approved 8q23.3 08q23.3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 15, pseudogene 2014-02-14 2014-02-18 2016-04-06 2016-04-06 101930744 ENSG00000255033 OTTHUMG00000165105 NG_033926 24172014 PGOHUM00000249781 HGNC:44397 +HGNC:3311 SERPINB1 serpin family B member 1 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "EI|PI2|LEI|MNEI" "leukocyte elastase inhibitor|monocyte/neutrophil elastase inhibitor|anti-elastase" ELANH2 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1|serpin peptidase inhibitor, clade B (ovalbumin), member 1" Serpin peptidase inhibitors 739 1993-07-27 2016-04-06 2021-04-26 1992 ENSG00000021355 OTTHUMG00000014124 uc003mub.5 M93056 NM_030666 CCDS4477 P30740 "1376927|24172014" "MGI:1913472|MGI:2445361|MGI:2445363" RGD:1306203 130135 I04.006 HGNC:3311 "ENST00000380739.6|NM_030666.4" +HGNC:8584 SERPINB2 serpin family B member 2 protein-coding gene gene with protein product Approved 18q21.33-q22.1 18q21.33-q22.1 "HsT1201|PAI-2" plasminogen-activator inhibitor "PLANH2|PAI2" "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2|serpin peptidase inhibitor, clade B (ovalbumin), member 2" Serpin peptidase inhibitors 739 1989-02-07 2016-04-06 2021-04-26 5055 ENSG00000197632 OTTHUMG00000060592 uc002ljo.4 Y00630 NM_002575 CCDS11989 P05120 24172014 MGI:97609 RGD:621823 173390 I04.007 HGNC:8584 "ENST00000299502.9|NM_002575.3" +HGNC:10569 SERPINB3 serpin family B member 3 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "T4-A|HsT1196" "SCC|SCCA1" "squamous cell carcinoma antigen 1|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3|serpin peptidase inhibitor, clade B (ovalbumin), member 3" Serpin peptidase inhibitors 739 1995-08-15 2016-04-06 2021-04-26 6317 ENSG00000057149 OTTHUMG00000060403 uc002lji.3 U19568 NM_006919 CCDS11987 P29508 "7724531|24172014" "MGI:1277952|MGI:2683293|MGI:2683295|MGI:3573933" RGD:1549766 600517 I04.008 HGNC:10569 "ENST00000283752.10|NM_006919.3" +HGNC:10570 SERPINB4 serpin family B member 4 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "PI11|LEUPIN|SCCA-2|SCCA1" SCCA2 "squamous cell carcinoma antigen 2|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4|serpin peptidase inhibitor, clade B (ovalbumin), member 4" Serpin peptidase inhibitors 739 1995-09-15 2016-04-06 2021-04-26 6318 ENSG00000206073 OTTHUMG00000060405 uc002ljf.4 X89015 NM_175041 CCDS11986 P48594 "7724531|14630915|24172014" "MGI:1277952|MGI:2683293|MGI:2683295|MGI:3573933" RGD:1562868 600518 I04.009 HGNC:10570 "ENST00000341074.10|NM_002974.4" +HGNC:8949 SERPINB5 serpin family B member 5 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 maspin protease inhibitor 5 (maspin) PI5 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5|serpin peptidase inhibitor, clade B (ovalbumin), member 5" Serpin peptidase inhibitors 739 1994-06-20 2016-04-06 2016-04-06 5268 ENSG00000206075 OTTHUMG00000141307 uc002liz.5 U04313 NM_002639 CCDS32839 P36952 "8290962|7724531|16720730|24172014" MGI:109579 RGD:69342 154790 I04.980 HGNC:8949 "ENST00000382771.9|NM_002639.5" +HGNC:8950 SERPINB6 serpin family B member 6 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "PTI|CAP" "cytoplasmic antiproteinase|placental thrombin inhibitor" "PI6|DFNB91" "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6|deafness, autosomal recessive 91|serpin peptidase inhibitor, clade B (ovalbumin), member 6" Serpin peptidase inhibitors 739 1994-07-20 2016-04-06 2021-05-26 5269 ENSG00000124570 OTTHUMG00000016170 uc003muo.4 Z22658 NM_001195291 "CCDS75387|CCDS4479|CCDS75386" P35237 "8415716|9858835|20451170|24172014" "MGI:103123|MGI:2145481|MGI:2667778|MGI:2667783|MGI:894688" RGD:735108 173321 233019 I04.011 HGNC:8950 "ENST00000380539.7|NM_004568.6" HGNC:8950 +HGNC:13902 SERPINB7 serpin family B member 7 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 megsin "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7|serpin peptidase inhibitor, clade B (ovalbumin), member 7" Serpin peptidase inhibitors 739 2000-11-21 2016-04-06 2021-05-26 8710 ENSG00000166396 OTTHUMG00000060591 uc002ljl.4 AF027866 NM_003784 "CCDS58633|CCDS11988" O75635 24172014 MGI:2151053 RGD:71063 603357 371936 I04.012 HGNC:13902 "ENST00000398019.7|NM_003784.4" HGNC:13902 +HGNC:8952 SERPINB8 serpin family B member 8 protein-coding gene gene with protein product Approved 18q22.1 18q22.1 CAP2 cytoplasmic antiproteinase 2 PI8 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8|serpin peptidase inhibitor, clade B (ovalbumin), member 8" Serpin peptidase inhibitors 739 1995-07-21 2016-04-06 2021-05-26 5271 ENSG00000166401 OTTHUMG00000060596 uc002lju.4 L40377 NM_001031848 "CCDS62460|CCDS86678|CCDS11991|CCDS42442" P50452 "8530382|9268635|24172014" MGI:894657 RGD:1309833 601697 465986 I04.013 HGNC:8952 "ENST00000397985.7|NM_002640.4" HGNC:8952 +HGNC:8953 SERPINB8P1 serpin family B member 8 pseudogene 1 pseudogene pseudogene Approved 6p25.2 06p25.2 "PI8L1|SERPINB11|SERPINBP1" "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin) pseudogene 1|serpin peptidase inhibitor, clade B (ovalbumin) pseudogene 1|serpin peptidase inhibitor, clade B8 (ovalbumin) pseudogene 1" 1999-08-20 2010-02-02 2016-04-06 2016-04-06 11029 ENSG00000217707 OTTHUMG00000014133 NG_002645 "10644448|24172014" PGOHUM00000243470 HGNC:8953 +HGNC:8955 SERPINB9 serpin family B member 9 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 CAP3 cytoplasmic antiproteinase 3 PI9 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9|serpin peptidase inhibitor, clade B (ovalbumin), member 9" Serpin peptidase inhibitors 739 1995-07-21 2016-04-06 2021-04-26 5272 ENSG00000170542 OTTHUMG00000014131 uc003mug.5 L40378 NM_004155 CCDS4478 P50453 "8530382|9858835|24172014" "MGI:106603|MGI:1919260|MGI:3709608|MGI:894667|MGI:894668|MGI:894669|MGI:894671|MGI:894672" RGD:1549730 601799 I04.014 HGNC:8955 "ENST00000380698.5|NM_004155.6" +HGNC:56120 SERPINB9-AS1 SERPINB9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p25.2 06p25.2 Antisense RNAs 1987 2022-01-07 2022-01-07 101927730 NR_110841 +HGNC:28590 SERPINB9P1 serpin family B member 9 pseudogene 1 pseudogene pseudogene Approved 6p25.2 06p25.2 MGC39372 serpin peptidase inhibitor, clade B (ovalbumin), member 9, pseudogene 1 2014-02-14 2016-04-06 2016-04-06 221756 ENSG00000230438 OTTHUMG00000014127 BC025340 NR_033851 24172014 PGOHUM00000243041 HGNC:28590 +HGNC:8942 SERPINB10 serpin family B member 10 protein-coding gene gene with protein product Approved 18q21.3 18q21.3 "protease inhibitor 10 (ovalbumin type)|bomapin" PI10 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10|serpin peptidase inhibitor, clade B (ovalbumin), member 10" Serpin peptidase inhibitors 739 1995-09-13 2016-04-06 2021-04-26 5273 ENSG00000242550 OTTHUMG00000060594 uc010xev.3 U35459 NM_005024 CCDS11990 P48595 "9268635|10871600|24172014" MGI:2138648 RGD:628853 602058 I04.015 HGNC:8942 "ENST00000238508.8|NM_005024.3" +HGNC:14221 SERPINB11 serpin family B member 11 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 epipin "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11|serpin peptidase inhibitor, clade B (ovalbumin), member 11|serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)|serpin family B member 11 (gene/pseudogene)" Serpin peptidase inhibitors 739 2001-06-27 2020-05-01 2021-04-26 89778 ENSG00000206072 OTTHUMG00000060404 uc032hfq.2 NM_080475 CCDS77196 Q96P15 "17562709|24172014" MGI:1914207 RGD:1306497 615682 I04.956 HGNC:14221 "ENST00000544088.6|NM_001370475.1" +HGNC:14220 SERPINB12 serpin family B member 12 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 yukopin "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12|serpin peptidase inhibitor, clade B (ovalbumin), member 12" Serpin peptidase inhibitors 739 2001-06-27 2016-04-06 2021-04-26 89777 ENSG00000166634 OTTHUMG00000132789 uc010xen.2 AF411191 NM_080474 "CCDS11984|CCDS77194" Q96P63 24172014 MGI:1919119 RGD:1566382 615662 I04.016 HGNC:14220 "ENST00000382768.2|NM_001307928.2" +HGNC:8944 SERPINB13 serpin family B member 13 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 HUR7 "hurpin|headpin" PI13 "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13|serpin peptidase inhibitor, clade B (ovalbumin), member 13" Serpin peptidase inhibitors 739 1995-12-20 2016-04-06 2021-04-26 5275 ENSG00000197641 OTTHUMG00000060406 uc002ljc.4 "AF169949|BC101821" NM_012397 "CCDS77195|CCDS11985" Q9UIV8 "9297979|10512713|24172014" MGI:3042250 RGD:1304661 604445 I04.017 HGNC:8944 "ENST00000344731.10|NM_012397.4" +HGNC:775 SERPINC1 serpin family C member 1 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "ATIII|MGC22579" "antithrombin III|signal peptide antithrombin part 1|coding sequence signal peptide antithrombin part 1|antithrombin (aa 375-432)" AT3 "serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1|serpin peptidase inhibitor, clade C (antithrombin), member 1" Serpin peptidase inhibitors 739 1986-01-01 2016-04-06 2021-05-26 462 ENSG00000117601 OTTHUMG00000037276 uc001gjt.4 X68793 NM_000488 CCDS1313 P01008 "3979120|24172014" MGI:88095 RGD:1307404 "Antithrombin III mutation database|http://www1.imperial.ac.uk/departmentofmedicine/divisions/experimentalmedicine/haematology/coag/antithrombin/|LRG_577|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_577.xml" 107300 118609 I04.018 objectId:2632 HGNC:775 "ENST00000367698.4|NM_000488.4" HGNC:775 +HGNC:4838 SERPIND1 serpin family D member 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "HC-II|HLS2|HC2|D22S673" "heparin cofactor II|heparin cofactor 2" HCF2 "serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1|serpin peptidase inhibitor, clade D (heparin cofactor), member 1" Serpin peptidase inhibitors 739 1988-05-31 2016-04-06 2021-05-26 3053 ENSG00000099937 OTTHUMG00000150755 uc002ztb.2 M12849 NM_000185 CCDS13783 P05546 "1671335|24172014" MGI:96051 RGD:619854 LRG_594|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_594.xml 142360 I04.019 HGNC:4838 "ENST00000215727.10|NM_000185.4" HGNC:4838 +HGNC:8583 SERPINE1 serpin family E member 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 PAI plasminogen activator inhibitor, type I "PLANH1|PAI1" serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 Serpin peptidase inhibitors 739 1986-01-01 2016-04-06 2021-05-26 5054 ENSG00000106366 OTTHUMG00000157107 uc003uxt.4 M16006 NM_000602 CCDS5711 P05121 "3097076|2891140|24172014" MGI:97608 RGD:3249 LRG_597|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_597.xml 173360 118613 I04.020 HGNC:8583 "ENST00000223095.5|NM_000602.5" HGNC:8583 +HGNC:8951 SERPINE2 serpin family E member 2 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "PN1|GDN|PNI|nexin" glial-derived nexin 1 PI7 "serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2|serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2" Serpin peptidase inhibitors 739 1994-09-01 2016-04-06 2021-04-13 5270 ENSG00000135919 OTTHUMG00000133163 uc002vnu.3 M17783 NM_006216 "CCDS46526|CCDS46525|CCDS2460" P07093 "7665170|24172014" MGI:101780 RGD:3748 LRG_645|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_645.xml 177010 471042 I04.021 HGNC:8951 "ENST00000409304.6|NM_001136528.2" +HGNC:24774 SERPINE3 serpin family E member 3 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 Serpin peptidase inhibitors 739 2008-09-05 2016-04-06 2016-04-06 647174 ENSG00000253309 OTTHUMG00000016943 uc058xdi.1 AX772926 NM_001101320 CCDS53870 A8MV23 24172014 MGI:2442020 RGD:1585042 I04.972 HGNC:24774 "ENST00000681248.1|NM_001386375.1" +HGNC:44400 SERPINE4P serpin family E member 4, pseudogene pseudogene pseudogene Approved 15q12 15q12 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 4 pseudogene 2014-02-14 2016-04-06 2016-04-06 101930745 ENSG00000258624 OTTHUMG00000171826 NG_033925 24172014 PGOHUM00000247016 HGNC:44400 +HGNC:8824 SERPINF1 serpin family F member 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "EPC-1|PIG35" "alpha-2 antiplasmin|proliferation-inducing protein 35" PEDF "serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1|pigment epithelium-derived factor" Serpin peptidase inhibitors 739 1993-05-18 2016-04-12 2021-05-26 5176 ENSG00000132386 OTTHUMG00000090571 uc002ftl.4 M76979 NM_002615 CCDS11012 P36955 "8434014|24172014" MGI:108080 RGD:631369 SERPINF1 variant database|https://oi.gene.le.ac.uk/home.php?select_db=SERPINF1 172860 265490 I04.979 HGNC:8824 "ENST00000254722.9|NM_002615.7" HGNC:8824 +HGNC:9075 SERPINF2 serpin family F member 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "API|ALPHA-2-PI|A2AP|AAP|alpha2AP" "alpha-2-plasmin inhibitor|alpha-2-antiplasmin" PLI "serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2|serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2" Serpin peptidase inhibitors 739 1989-04-14 2016-04-06 2021-05-26 5345 ENSG00000167711 OTTHUMG00000090552 uc002ftk.1 D00174 NM_000934 "CCDS54064|CCDS11011" P08697 "3416655|24172014" MGI:107173 RGD:1306692 LRG_885|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_885.xml 613168 201277 I04.023 HGNC:9075 "ENST00000453066.6|NM_000934.4" HGNC:9075 +HGNC:1228 SERPING1 serpin family G member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "C1IN|C1-INH|HAE1|HAE2|C1INH" "plasma protease C1 inhibitor|angioedema, hereditary|C1-inhibitor" C1NH "serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)|serpin peptidase inhibitor, clade G (C1 inhibitor), member 1" "Serpin peptidase inhibitors|Complement system regulators and receptors" "739|1639" 2001-06-22 2016-04-06 2021-05-26 710 ENSG00000149131 OTTHUMG00000150304 uc001nkp.2 X54486 NM_000062 CCDS7962 P05155 "2026152|24172014" MGI:894696 RGD:735225 "SERPING1base: Mutation registry for Hereditary angioedema|http://structure.bmc.lu.se/idbase/SERPING1base/|LRG_105|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_105.xml" 606860 118618 I04.024 HGNC:1228 "ENST00000278407.9|NM_000062.3" HGNC:1228 +HGNC:1546 SERPINH1 serpin family H member 1 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 HSP47 "collagen binding protein 1|colligin|heat shock protein 47" "CBP1|CBP2|SERPINH2" "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2|serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)|serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)" Serpin peptidase inhibitors 739 1994-01-10 2016-04-06 2021-12-03 871 ENSG00000149257 OTTHUMG00000165362 uc009yug.4 X61598 NM_004353 CCDS8239 P50454 "7656593|9533029|24172014" MGI:88283 RGD:69302 Osteogenesis Imperfecta Variant Database|https://oi.gene.le.ac.uk/home.php?select_db=SERPINH1 600943 227095 HGNC:1546 "ENST00000358171.8|NM_001235.5" HGNC:1546 +HGNC:19917 SERPINH1P1 serpin family H member 1 pseudogene 1 pseudogene pseudogene Approved 9p13.3 09p13.3 "bA571F15.6|pshsp47" SERPINHP1 "serine (or cysteine) proteinase inhibitor, clade H, pseudogene 1|serpin peptidase inhibitor, clade H, pseudogene 1|serpin peptidase inhibitor, clade H1, pseudogene 1" 2002-12-09 2010-02-02 2016-04-06 2016-04-06 158172 ENSG00000229207 OTTHUMG00000000429 AB010273 NG_053094 "10023073|24172014" PGOHUM00000236445 HGNC:19917 +HGNC:8943 SERPINI1 serpin family I member 1 protein-coding gene gene with protein product Approved 3q26.1 03q26.1 neuroserpin PI12 serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1 Serpin peptidase inhibitors 739 1995-12-20 2016-04-06 2021-05-26 5274 ENSG00000163536 OTTHUMG00000158450 uc003ffa.5 Z81326 NM_001122752 CCDS3203 Q99574 24172014 MGI:1194506 RGD:619896 602445 118623 I04.025 HGNC:8943 "ENST00000446050.7|NM_001122752.2" HGNC:8943 +HGNC:8945 SERPINI2 serpin family I member 2 protein-coding gene gene with protein product Approved 3q26.1 03q26.1 "TSA2004|MEPI" "myoepithelium-derived serine proteinase inhibitor|pancpin" PI14 "serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2|serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2|serpin peptidase inhibitor, clade I (pancpin), member 2" Serpin peptidase inhibitors 739 1995-12-20 2016-04-06 2021-04-26 5276 ENSG00000114204 OTTHUMG00000158231 uc062psb.1 AB006423 NM_006217 CCDS3200 O75830 "9624529|24172014" MGI:1915181 RGD:619897 605587 I04.026 HGNC:8945 +HGNC:17932 SERTAD1 SERTA domain containing 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "SEI1|TRIP-Br1" "CDK4-binding protein p34SEI|transcriptional regulator interacting with the PHD-bromodomain 1" 2004-02-16 2020-04-01 29950 ENSG00000197019 OTTHUMG00000182594 uc002ont.6 AF117959 NM_013376 CCDS12557 Q9UHV2 "6434876|10580009" MGI:1913438 RGD:1549778 617850 HGNC:17932 "ENST00000357949.5|NM_013376.4" +HGNC:30784 SERTAD2 SERTA domain containing 2 protein-coding gene gene with protein product Approved 2p14 02p14 "TRIP-Br2|KIAA0127|Sei-2" transcriptional regulator interacting with the PHS-bromodomain 2 2004-02-16 2016-10-05 9792 ENSG00000179833 OTTHUMG00000152678 uc002sde.3 D50917 NM_014755 CCDS33210 Q14140 "8590280|11331592" MGI:1931026 RGD:1564049 617851 HGNC:30784 "ENST00000313349.3|NM_014755.3" +HGNC:17931 SERTAD3 SERTA domain containing 3 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 RBT1 RPA-binding trans-activator 2004-02-16 2020-04-01 29946 ENSG00000167565 OTTHUMG00000182595 uc002onv.5 AF192529 NM_013368 CCDS12558 Q9UJW9 "10982866|11331592" MGI:2180697 RGD:1564271 612125 HGNC:17931 "ENST00000322354.4|NM_203344.3" +HGNC:55281 SERTAD3-AS1 SERTAD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.2 19q13.2 Antisense RNAs 1987 2020-10-09 2020-10-09 105372489 ENSG00000268366 XR_001753817 +HGNC:25236 SERTAD4 SERTA domain containing 4 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 DJ667H12.2 2004-02-17 2019-03-19 56256 ENSG00000082497 OTTHUMG00000036391 uc001hhy.4 BC012083 NM_019605 CCDS1494 Q9NUC0 21664411 MGI:2443496 RGD:1565408 HGNC:25236 "ENST00000367012.4|NM_019605.5" +HGNC:32019 SERTAD4-AS1 SERTAD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.2 01q32.2 C1orf133 "chromosome 1 open reading frame 133|SERTAD4 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-06-30 2012-07-12 2012-08-15 2014-11-19 574036 ENSG00000203706 OTTHUMG00000036392 uc001hhx.6 BC066352 NR_024337 Q5TG53 SERTAD4-AS1 HGNC:32019 +HGNC:33792 SERTM1 serine rich and transmembrane domain containing 1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 C13orf36 "chromosome 13 open reading frame 36|serine-rich and transmembrane domain containing 1" 2008-06-11 2011-08-09 2016-02-01 2016-02-01 400120 ENSG00000180440 OTTHUMG00000016735 uc001uvt.5 NM_203451 CCDS9358 A2A2V5 MGI:3607715 RGD:1597355 HGNC:33792 "ENST00000315190.4|NM_203451.3" +HGNC:48576 SERTM2 serine rich and transmembrane domain containing 2 protein-coding gene gene with protein product Approved Xq23 Xq23 LINC00890 long intergenic non-protein coding RNA 890 2013-05-17 2017-08-16 2017-08-16 2017-08-16 401613 ENSG00000260802 OTTHUMG00000173027 NM_001354473 A0A1B0GWG4 28587571 MGI:2442684 RGD:7673510 LINC00890 HGNC:48576 "ENST00000569275.2|NM_001354473.2" +HGNC:21595 SESN1 sestrin 1 protein-coding gene gene with protein product Approved 6q21 06q21 "SEST1|PA26" 2003-09-03 2014-11-19 27244 ENSG00000080546 OTTHUMG00000015338 uc003psu.4 AF033120 NM_014454 "CCDS56445|CCDS56444|CCDS5070" Q9Y6P5 "9926927|7938006" MGI:2155278 RGD:1307517 606103 471044 HGNC:21595 "ENST00000436639.7|NM_014454.3" +HGNC:20746 SESN2 sestrin 2 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "SES2|DKFZp761M0212|HI95|SEST2" 2003-09-03 2016-10-05 83667 ENSG00000130766 OTTHUMG00000003532 uc001bps.4 AY123223 NM_031459 CCDS321 P58004 "12607115|12203114" MGI:2651874 RGD:1566319 607767 HGNC:20746 "ENST00000253063.4|NM_031459.5" +HGNC:23060 SESN3 sestrin 3 protein-coding gene gene with protein product Approved 11q21 11q21 "SEST3|MGC29667" 2003-09-03 2014-11-18 143686 ENSG00000149212 OTTHUMG00000167829 uc001pfj.6 AK096300 NM_144665 "CCDS8303|CCDS60938" P58005 12607115 MGI:1922997 RGD:1309470 607768 HGNC:23060 "ENST00000536441.7|NM_144665.4" +HGNC:18379 SESTD1 SEC14 and spectrin domain containing 1 protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "DKFZp434O0515|Solo" SEC14 and spectrin domains 1 2002-07-04 2015-11-18 2016-10-05 91404 ENSG00000187231 OTTHUMG00000154554 uc002uni.5 AK096232 NM_178123 CCDS33338 Q86VW0 12837271 MGI:1916262 RGD:1562244 471046 HGNC:18379 "ENST00000428443.8|NM_178123.5" +HGNC:10760 SET SET nuclear proto-oncogene protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "PHAPII|2PP2A|IPP2A2|TAF-IBETA|IGAAD|TAF-I" "protein phosphatase type 2A inhibitor|Template-Activating Factor-I|chromatin remodelling factor|HLA-DR-associated protein II|inhibitor of granzyme A-activated DNase" SET translocation (myeloid leukemia-associated) "INHAT complex|SET complex" "1658|1659" 1998-04-20 2014-06-25 2018-07-11 6418 ENSG00000119335 OTTHUMG00000020755 uc004bvu.5 M93651 NM_001122821 "CCDS59150|CCDS6907|CCDS59149|CCDS48037" Q01105 "1630450|8626647" MGI:1860267 RGD:1307467 SET 600960 HGNC:10760 "ENST00000322030.13|NM_003011.4" HGNC:10760 +HGNC:15573 SETBP1 SET binding protein 1 protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "SEB|KIAA0437" 2001-06-05 2021-12-08 26040 ENSG00000152217 OTTHUMG00000132613 uc010dni.3 AB022660 NM_001130110 "CCDS11923|CCDS45859" Q9Y6X0 "11231286|23222956" MGI:1933199 RGD:1306229 LRG_1150|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1150.xml SETBP1 611060 231397 HGNC:15573 "ENST00000649279.2|NM_015559.3" HGNC:15573 +HGNC:54819 SETBP1-DT SETBP1 divergent transcript non-coding RNA RNA, long non-coding Approved 18q12.3 18q12.3 Divergent transcripts 1990 2020-01-17 2020-07-16 101927943 ENSG00000267414 XR_007088368 32079618 +HGNC:29010 SETD1A SET domain containing 1A, histone lysine methyltransferase protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "KIAA0339|Set1|KMT2F|SET1A" SET domain containing 1A "Lysine methyltransferases|RNA binding motif containing|SET domain containing" "487|725|1399" 2006-02-15 2018-12-21 2020-12-03 9739 ENSG00000099381 OTTHUMG00000150474 uc002ead.2 AB002337 NM_014712 CCDS32435 O15047 "9205841|12670868" MGI:2446244 RGD:1311624 611052 objectId:2700 HGNC:29010 "ENST00000262519.14|NM_014712.3" HGNC:29010 +HGNC:29187 SETD1B SET domain containing 1B, histone lysine methyltransferase protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA1076|Set1B|KMT2G" SET domain containing 1B "Lysine methyltransferases|RNA binding motif containing|SET domain containing" "487|725|1399" 2006-02-15 2018-12-21 2018-12-21 23067 ENSG00000139718 OTTHUMG00000169080 uc058ujh.1 AB028999 NM_001353345 CCDS86338 Q9UPS6 "10470851|17355966" MGI:2652820 RGD:2323325 611055 objectId:2701 HGNC:29187 "ENST00000604567.6|NM_001353345.2" HGNC:29187 +HGNC:18420 SETD2 SET domain containing 2, histone lysine methyltransferase protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "HYPB|HIF-1|KIAA1732|FLJ23184|KMT3A" SET domain containing 2 "Lysine methyltransferases|SET domain containing" "487|1399" 2006-02-15 2018-12-21 2021-04-13 29072 ENSG00000181555 OTTHUMG00000133514 uc003cqs.4 AJ238403 NM_014159 CCDS2749 Q9BYW2 "16118227|11461154" MGI:1918177 RGD:1305576 LRG_775|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_775.xml SETD2 612778 412839 objectId:2702 HGNC:18420 "ENST00000409792.4|NM_014159.7" HGNC:18420 +HGNC:20493 SETD3 SET domain containing 3, actin histidine methyltransferase protein-coding gene gene with protein product Approved 14q32.2 14q32.2 FLJ23027 C14orf154 "chromosome 14 open reading frame 154|SET domain containing 3" SET domain containing 1399 2004-06-11 2006-02-15 2018-12-20 2020-03-06 84193 ENSG00000183576 OTTHUMG00000028970 uc001ygc.4 AK026680 NM_032233 "CCDS9951|CCDS9952" Q86TU7 "21832073|30526847|31911441" MGI:1289184 RGD:1309550 615671 HGNC:20493 "ENST00000331768.10|NM_032233.3" +HGNC:1258 SETD4 SET domain containing 4 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 "C21orf27|C21orf18" "chromosome 21 open reading frame 27|chromosome 21 open reading frame 18" SET domain containing 1399 2000-05-23 2006-02-15 2006-02-15 2020-09-17 54093 ENSG00000185917 OTTHUMG00000086483 uc021wiy.3 AK001660 NM_017438 "CCDS13640|CCDS42923|CCDS74792|CCDS74791" Q9NVD3 "24738023|28031330" MGI:2136890 RGD:619899 HGNC:1258 "ENST00000332131.9|NM_017438.5" +HGNC:40104 SETD4-AS1 SETD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.12 21q22.12 Antisense RNAs 1987 2020-03-19 2020-03-19 105369295 ENSG00000236677 OTTHUMG00000086615 +HGNC:25566 SETD5 SET domain containing 5 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "FLJ10707|SETD5A" SET domain containing 1399 2006-02-15 2022-03-07 55209 ENSG00000168137 OTTHUMG00000150491 uc003brt.3 BC020956 NM_001080517 "CCDS46741|CCDS74892" Q9C0A6 "11214970|27864380" MGI:1920145 RGD:1310433 615743 406882 HGNC:25566 "ENST00000402198.7|NM_001080517.3" HGNC:25566 +HGNC:26116 SETD6 SET domain containing 6, protein lysine methyltransferase protein-coding gene gene with protein product Approved 16q21 16q21 FLJ21148 SET domain containing 6 SET domain containing 1399 2006-02-15 2018-12-21 2018-12-21 79918 ENSG00000103037 OTTHUMG00000150276 uc002enr.4 AK024801 NM_024860 "CCDS54013|CCDS10798" Q8TBK2 21131967 MGI:1913333 RGD:1560538 616424 HGNC:26116 "ENST00000219315.9|NM_001160305.4" HGNC:26116 +HGNC:51596 SETD6P1 SET domain containing 6 pseudogene 1 pseudogene pseudogene Approved 2q12.3 02q12.3 2015-03-12 2020-04-06 106481727 ENSG00000236877 OTTHUMG00000184506 NG_045049 PGOHUM00000298058 HGNC:51596 +HGNC:30412 SETD7 SET domain containing 7, histone lysine methyltransferase protein-coding gene gene with protein product Approved 4q31.1 04q31.1 "KIAA1717|SET7|SET7/9|Set9|KMT7" SET domain containing lysine methyltransferase 7 "Lysine methyltransferases|SET domain containing" "487|1399" 2006-02-15 2018-12-21 2018-12-21 80854 ENSG00000145391 OTTHUMG00000133385 uc003ihw.4 AB051504 NM_030648 "CCDS3748|CCDS77961|CCDS82956" Q8WTS6 "11850410|11779497" MGI:1920501 RGD:1586346 606594 objectId:2703 HGNC:30412 "ENST00000274031.8|NM_030648.4" +HGNC:28508 SETD9 SET domain containing 9 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 MGC33648 C5orf35 chromosome 5 open reading frame 35 SET domain containing 1399 2006-10-31 2012-02-23 2012-02-23 2014-11-19 133383 ENSG00000155542 OTTHUMG00000059485 uc003jqx.4 BC036528 NM_153706 CCDS3972 Q8NE22 20930037 RGD:2318781 HGNC:28508 "ENST00000285947.5|NM_153706.4" +HGNC:10761 SETDB1 SET domain bifurcated histone lysine methyltransferase 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "KG1T|KIAA0067|ESET|KMT1E|TDRD21" tudor domain containing 21 "SET domain, bifurcated 1|SET domain bifurcated 1" "Lysine methyltransferases|Tudor domain containing|Methyl-CpG binding domain containing|SET domain containing" "487|780|1025|1399" 1999-07-19 2018-12-21 2018-12-21 9869 ENSG00000143379 OTTHUMG00000035003 uc001evv.3 D31891 NM_001145415 "CCDS972|CCDS44217|CCDS58026" Q15047 10343109 MGI:1934229 RGD:1308370 604396 objectId:2705 HGNC:10761 "ENST00000692827.1|NM_001366418.1" +HGNC:20263 SETDB2 SET domain bifurcated histone lysine methyltransferase 2 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "CLLD8|CLLL8|KMT1F" C13orf4 "chromosome 13 open reading frame 4|SET domain, bifurcated 2|SET domain bifurcated 2" "Lysine methyltransferases|Methyl-CpG binding domain containing|SET domain containing" "487|1025|1399" 2003-01-16 2003-05-09 2018-12-21 2018-12-21 83852 ENSG00000136169 OTTHUMG00000016918 uc001vcz.4 AF334407 NM_031915 "CCDS53868|CCDS9417" Q96T68 11306461 MGI:2685139 RGD:2319564 607865 objectId:2706 HGNC:20263 "ENST00000611815.2|NM_001160308.3" +HGNC:10762 SETMAR SET domain and mariner transposase fusion gene protein-coding gene gene with protein product Approved 3p26.1 03p26.1 metnase "SET domain containing|DNA transposon derived genes" "1399|1415" 1997-11-20 2016-10-05 6419 ENSG00000170364 OTTHUMG00000090265 uc011asp.3 U80776 NM_006515 "CCDS58814|CCDS63528|CCDS2563" Q53H47 9461395 MGI:1921979 RGD:1565882 609834 HGNC:10762 "ENST00000358065.5|NM_006515.4" +HGNC:19279 SETP1 SET pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 SETP SETP19 SET pseudogene 19 2005-09-23 2014-11-19 100133314 ENSG00000258863 OTTHUMG00000170988 NG_030238 PGOHUM00000247729 HGNC:19279 +HGNC:20032 SETP2 SET pseudogene 2 pseudogene pseudogene Approved 14q22.1 14q22.1 2003-01-13 2014-11-19 326277 ENSG00000258893 OTTHUMG00000171075 NG_002537 PGOHUM00000248167 HGNC:20032 +HGNC:31115 SETP3 SET pseudogene 3 pseudogene pseudogene Approved 17q22 17q22 SETP13 "SET translocation, pseudogene 3|SET pseudogene 13" 2005-09-23 2005-09-23 2014-11-18 619349 ENSG00000266648 OTTHUMG00000179241 NG_032022 HGNC:31115 +HGNC:42923 SETP4 SET pseudogene 4 pseudogene pseudogene Approved Xq21.1 Xq21.1 2011-09-06 2011-09-06 642869 ENSG00000237211 OTTHUMG00000021927 NG_017144 PGOHUM00000241878 HGNC:42923 +HGNC:42924 SETP5 SET pseudogene 5 pseudogene pseudogene Approved 9q34.3 09q34.3 2011-09-06 2011-09-06 100130014 ENSG00000233998 OTTHUMG00000020994 NG_021638 PGOHUM00000236347 HGNC:42924 +HGNC:42925 SETP6 SET pseudogene 6 pseudogene pseudogene Approved 3p12.2 03p12.2 2011-09-06 2011-09-06 100419178 ENSG00000241319 OTTHUMG00000159004 NG_025596 PGOHUM00000237668 HGNC:42925 +HGNC:42926 SETP7 SET pseudogene 7 pseudogene pseudogene Approved 12q23.3 12q23.3 2011-09-06 2011-09-06 100873166 ENSG00000257444 OTTHUMG00000169999 NG_032537 PGOHUM00000239917 HGNC:42926 +HGNC:42927 SETP8 SET pseudogene 8 pseudogene pseudogene Approved Xq23 Xq23 2011-09-06 2011-09-06 100128536 ENSG00000213526 OTTHUMG00000022249 NG_022693 PGOHUM00000241965 HGNC:42927 +HGNC:42928 SETP9 SET pseudogene 9 pseudogene pseudogene Approved 1q23.3 01q23.3 2011-09-06 2011-09-06 100129738 ENSG00000235101 OTTHUMG00000024004 NG_022811 PGOHUM00000245040 HGNC:42928 +HGNC:42929 SETP10 SET pseudogene 10 pseudogene pseudogene Approved 1q25.2 01q25.2 2011-09-06 2011-09-06 100287822 ENSG00000231905 OTTHUMG00000041096 NG_022819 PGOHUM00000245099 HGNC:42929 +HGNC:42930 SETP11 SET pseudogene 11 pseudogene pseudogene Approved 3q25.1 03q25.1 2011-09-06 2011-09-06 100419187 ENSG00000239570 OTTHUMG00000159860 NG_025756 PGOHUM00000238231 HGNC:42930 +HGNC:42931 SETP12 SET pseudogene 12 pseudogene pseudogene Approved 4q27 04q27 2011-09-06 2011-09-06 100419158 ENSG00000251609 OTTHUMG00000161142 NG_025157 PGOHUM00000245681 HGNC:42931 +HGNC:42933 SETP14 SET pseudogene 14 pseudogene pseudogene Approved 3q25.31 03q25.31 2011-09-06 2011-09-06 389168 ENSG00000240489 OTTHUMG00000158545 NG_017152 PGOHUM00000238240 HGNC:42933 +HGNC:42934 SETP15 SET pseudogene 15 pseudogene pseudogene Approved Xp22.2 Xp22.2 2011-09-06 2011-09-06 100856877 ENSG00000226536 OTTHUMG00000021185 NG_031903 PGOHUM00000241653 HGNC:42934 +HGNC:42935 SETP16 SET pseudogene 16 pseudogene pseudogene Approved 11q23.3 11q23.3 2011-09-06 2011-09-06 649925 ENSG00000254621 OTTHUMG00000166412 NG_021806 PGOHUM00000242502 HGNC:42935 +HGNC:42936 SETP17 SET pseudogene 17 pseudogene pseudogene Approved 11q14.2 11q14.2 2011-09-06 2011-09-06 100130043 ENSG00000255222 OTTHUMG00000167211 NG_021827 PGOHUM00000242834 HGNC:42936 +HGNC:42939 SETP20 SET pseudogene 20 pseudogene pseudogene Approved 4q25 04q25 2011-09-06 2012-10-08 389217 ENSG00000225094 OTTHUMG00000161100 NG_029996 PGOHUM00000250727 HGNC:42939 +HGNC:42940 SETP21 SET pseudogene 21 pseudogene pseudogene Approved 5q12.1 05q12.1 2011-09-06 2016-10-25 100856878 ENSG00000214244 OTTHUMG00000162435 NG_027957 PGOHUM00000300594 HGNC:42940 +HGNC:42941 SETP22 SET pseudogene 22 pseudogene pseudogene Approved 5q15 05q15 2011-09-06 2011-09-06 642737 ENSG00000213701 OTTHUMG00000162868 NG_017145 PGOHUM00000251323 HGNC:42941 +HGNC:42937 SETSIP SET like protein protein-coding gene gene with protein product Approved 1p22.1 01p22.1 SET similar protein SETP18 SET pseudogene 18 2011-09-06 2013-12-17 2019-02-13 2019-02-13 646817 ENSG00000230667 OTTHUMG00000010287 NM_001287737 CCDS72821 P0DME0 22869753 HGNC:42937 +HGNC:445 SETX senataxin protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "KIAA0625|AOA2|Sen1" "ALS4|SCAR1" "amyotrophic lateral sclerosis 4|spinocerebellar ataxia, recessive, non-Friedreich type 1" "UPF1 like RNA helicases|SSU processome" "1169|1484" 1996-10-26 2005-11-29 2005-11-29 2021-04-13 23064 ENSG00000107290 OTTHUMG00000020834 uc004cbk.4 AB014525 NM_015046 CCDS6947 Q7Z333 "9497266|11022012" MGI:2443480 RGD:1565575 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LOVD - Leiden Open Variation Database|http://www.geschwind.med.ucla.edu/LOVD/home.php?select_db=SETX|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_268|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_268.xml" 608465 118627 HGNC:445 "ENST00000224140.6|NM_015046.7" HGNC:445 +HGNC:15955 SEZ6 seizure related 6 homolog protein-coding gene gene with protein product Approved 17q11.2 17q11.2 seizure related 6 homolog (mouse) Sushi domain containing 1179 2001-06-25 2016-04-19 2016-04-19 124925 ENSG00000063015 OTTHUMG00000168010 uc002hdp.3 AY038048 NM_001098635 "CCDS45639|CCDS45638" Q53EL9 17086543 MGI:104745 RGD:619780 616666 HGNC:15955 "ENST00000317338.17|NM_178860.5" +HGNC:10763 SEZ6L seizure related 6 homolog like protein-coding gene gene with protein product Approved 22q12.1 22q12.1 seizure related gene 6 (mouse)-like Sushi domain containing 1179 1999-10-12 2016-04-19 2016-04-19 23544 ENSG00000100095 OTTHUMG00000150870 uc003acb.4 AL050253 NM_001184773 "CCDS13833|CCDS54511|CCDS54510|CCDS54508|CCDS54509|CCDS74837" Q9BYH1 MGI:1935121 RGD:1563628 607021 HGNC:10763 "ENST00000248933.11|NM_021115.5" +HGNC:40521 SEZ6L-AS1 SEZ6L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Antisense RNAs 1987 2020-03-19 2020-03-19 105372974 ENSG00000224192 OTTHUMG00000151346 XR_001755470 +HGNC:30844 SEZ6L2 seizure related 6 homolog like 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "PSK-1|FLJ90517" type I transmembrane receptor (seizure related protein) seizure related 6 homolog (mouse)-like 2 Sushi domain containing 1179 2004-07-12 2016-04-19 2016-10-05 26470 ENSG00000174938 OTTHUMG00000132112 uc002dup.5 AY358404 NM_012410 "CCDS10659|CCDS73865|CCDS10658|CCDS45458|CCDS58447" Q6UXD5 "12975309|26698217" MGI:2385295 RGD:1565281 616667 HGNC:30844 "ENST00000617533.5|NM_001243332.2" +HGNC:12950 SF1 splicing factor 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ZFM1|ZCCHC25" ZNF162 zinc finger protein 162 "Zinc fingers CCHC-type|Spliceosomal A complex|Spliceosomal E complex" "74|1504|1522" 1994-09-27 2002-01-11 2001-12-19 2021-04-13 7536 ENSG00000168066 OTTHUMG00000066833 uc001obc.3 D26120 NM_004630 "CCDS53661|CCDS31599|CCDS44642|CCDS8080|CCDS8081|CCDS53660" Q15637 "7912130|9573336" MGI:1095403 RGD:620645 LRG_617|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_617.xml 601516 471048 HGNC:12950 "ENST00000377390.8|NM_004630.4" +HGNC:55278 SF1-DT SF1 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Divergent transcripts 1990 2020-10-06 2020-10-06 118827805 ENSG00000269038 +HGNC:10765 SF3A1 splicing factor 3a subunit 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "SF3a120|SAP114|PRPF21|Prp21" "splicing factor 3a, subunit 1, 120kD|splicing factor 3a, subunit 1, 120kDa" "U2 small nuclear ribonucleoprotein |SF3a complex" "1501|1555" 2000-02-29 2015-11-09 2021-04-13 10291 ENSG00000099995 OTTHUMG00000151005 uc003ahl.4 X85237 NM_005877 CCDS13875 Q15459 7489498 MGI:1914715 RGD:1311477 LRG_622|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_622.xml 605595 HGNC:10765 "ENST00000215793.13|NM_005877.6" +HGNC:10766 SF3A2 splicing factor 3a subunit 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SF3a66|SAP62|PRPF11|Prp11" "splicing factor 3a, subunit 2, 66kD|splicing factor 3a, subunit 2, 66kDa" "U2 small nuclear ribonucleoprotein |SF3a complex" "1501|1555" 2000-02-29 2015-11-09 2015-11-09 8175 ENSG00000104897 OTTHUMG00000180414 uc002lvg.4 L21990 NM_007165 CCDS12084 Q15428 "8211113|8541848" MGI:104912 RGD:1308627 600796 HGNC:10766 "ENST00000221494.10|NM_007165.5" +HGNC:10767 SF3A3 splicing factor 3a subunit 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "SF3a60|SAP61|PRP9|PRPF9" "splicing factor 3a, subunit 3, 60kD|splicing factor 3a, subunit 3, 60kDa" "U2 small nuclear ribonucleoprotein |SF3a complex" "1501|1555" 2000-02-29 2015-11-09 2015-11-09 10946 ENSG00000183431 OTTHUMG00000004438 uc001cci.4 U08815 NM_006802 CCDS428 Q12874 "7816610|8022796" MGI:1922312 RGD:1308726 605596 HGNC:10767 "ENST00000373019.5|NM_006802.4" +HGNC:16576 SF3A3P1 splicing factor 3a, subunit 3 pseudogene 1 pseudogene pseudogene Approved 20p13 20p13 dJ581P3.1 SF3A3P splicing factor 3a, subunit 3 pseudogene 2001-09-17 2006-09-25 2006-09-25 2016-07-22 170548 ENSG00000230568 OTTHUMG00000031745 AL109805 NG_001054 PGOHUM00000296885 HGNC:16576 +HGNC:23277 SF3A3P2 splicing factor 3a, subunit 3 pseudogene 2 pseudogene pseudogene Approved 11q24.1 11q24.1 2006-09-25 2017-10-26 449645 ENSG00000254449 OTTHUMG00000166005 NG_004710 PGOHUM00000290737 HGNC:23277 +HGNC:10768 SF3B1 splicing factor 3b subunit 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "SAP155|SF3b155|PRPF10|Prp10|Hsh155" "splicing factor 3b, subunit 1, 155kD|splicing factor 3b, subunit 1, 155kDa" "Armadillo like helical domain containing|SF3b complex|B-WICH chromatin-remodelling complex subunits" "1492|1517|1787" 2000-02-29 2015-11-09 2021-04-13 23451 ENSG00000115524 OTTHUMG00000154447 uc002uue.4 AF054284 NM_001005526 "CCDS33356|CCDS82550|CCDS46479" O75533 9585501 MGI:1932339 RGD:620148 LRG_624|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_624.xml SF3B1 605590 412551 HGNC:10768 "ENST00000335508.11|NM_012433.4" +HGNC:10769 SF3B2 splicing factor 3b subunit 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "SAP145|SF3b1|Cus1|SF3b145" "splicing factor 3b, subunit 2, 145kD|splicing factor 3b, subunit 2, 145kDa" "Armadillo like helical domain containing|SF3b complex" "1492|1517" 2000-02-29 2015-11-09 2016-10-05 10992 ENSG00000087365 OTTHUMG00000166751 uc001ogy.2 U41371 NM_006842 CCDS31612 Q13435 8566756 MGI:2441856 RGD:1307159 605591 HGNC:10769 "ENST00000322535.11|NM_006842.3" +HGNC:10770 SF3B3 splicing factor 3b subunit 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "SAP130|SF3b130|RSE1|KIAA0017" spliceosome-associated protein 130 "splicing factor 3b, subunit 3, 130kD|splicing factor 3b, subunit 3, 130kDa" "SF3b complex|Small nucleolar RNA protein coding host genes" "1517|1835" 2000-02-29 2015-11-09 2021-06-23 23450 ENSG00000189091 OTTHUMG00000137582 uc002ezf.3 AJ001443 NM_012426 CCDS10894 Q15393 10490618 MGI:1289341 RGD:1311636 605592 HGNC:10770 "ENST00000302516.10|NM_012426.5" +HGNC:10771 SF3B4 splicing factor 3b subunit 4 protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "SAP49|SF3b49|Hsh49" "splicing factor 3b, subunit 4, 49kD|splicing factor 3b, subunit 4, 49kDa" "RNA binding motif containing|SF3b complex" "725|1517" 2000-02-29 2015-11-09 2021-05-26 10262 ENSG00000143368 OTTHUMG00000012208 uc001etk.3 L35013 NM_005850 CCDS72900 Q15427 7958871 MGI:109580 RGD:1309667 605593 302925 HGNC:10771 "ENST00000271628.9|NM_005850.5" HGNC:10771 +HGNC:19821 SF3B4P1 splicing factor 3b, subunit 4 pseudogene 1 pseudogene pseudogene Approved 14q23.3 14q23.3 SF3B4P splicing factor 3b, subunit 4, pseudogene 2003-01-13 2010-04-20 2010-04-20 2020-04-07 326276 ENSG00000258988 OTTHUMG00000171221 NG_002536 HGNC:19821 +HGNC:21083 SF3B5 splicing factor 3b subunit 5 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "SF3b10|MGC3133|Ysf3" splicing factor 3b, subunit 5, 10kDa SF3b complex 1517 2003-05-28 2015-11-09 2016-10-05 83443 ENSG00000169976 OTTHUMG00000015737 uc003qkr.2 BC000198 NM_031287 CCDS5204 Q9BWJ5 12234937 MGI:1913375 RGD:1586993 617847 HGNC:21083 "ENST00000367569.4|NM_031287.3" +HGNC:30096 SF3B6 splicing factor 3b subunit 6 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "P14|SF3B14a|Ht006|CGI-110|SAP14a" pre mRNA branch site protein p14 splicing factor 3b, subunit 6, 14kDa SF3b complex 1517 2014-02-14 2015-11-09 2016-10-05 51639 ENSG00000115128 OTTHUMG00000125499 NM_016047 CCDS1707 Q9Y3B4 "11500380|12738865" MGI:1913305 RGD:2318878 607835 HGNC:30096 "ENST00000233468.5|NM_016047.4" +HGNC:29064 SFI1 SFI1 centrin binding protein protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "KIAA0542|PISD|PPP1R139" protein phosphatase 1, regulatory subunit 139 Sfi1 homolog, spindle assembly associated (yeast) Protein phosphatase 1 regulatory subunits 694 2005-02-08 2015-06-29 2015-06-29 9814 ENSG00000198089 OTTHUMG00000030249 uc003ale.5 AB011114 NM_014775 "CCDS43004|CCDS58803|CCDS43005|CCDS58804" A8K8P3 "14504268|19857500" MGI:1926137 RGD:1560636 612765 HGNC:29064 "ENST00000400288.7|NM_001007467.3" +HGNC:20255 SFMBT1 Scm like with four mbt domains 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "RU1|DKFZp434L243|SFMBT" "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 2003-11-14 2017-07-18 2017-07-18 51460 ENSG00000163935 OTTHUMG00000159052 uc003dgh.4 AF168132 NM_016329 CCDS2867 Q9UHJ3 10661410 MGI:1859609 RGD:61999 607319 HGNC:20255 "ENST00000394752.8|NM_016329.4" +HGNC:20256 SFMBT2 Scm like with four mbt domains 2 protein-coding gene gene with protein product Approved 10p14 10p14 KIAA1617 Scm-related gene containing four mbt domains 2 "Sterile alpha motif domain containing|MBT domain containing" "760|1263" 2003-06-16 2017-07-18 2017-07-18 57713 ENSG00000198879 OTTHUMG00000017630 uc001ijn.2 AB046837 NM_001029880 CCDS31138 Q5VUG0 10997877 MGI:2447794 RGD:1305027 615392 HGNC:20256 "ENST00000397167.6|NM_001387889.1" +HGNC:10773 SFN stratifin protein-coding gene gene with protein product Approved 1p36.11 01p36.11 YWHAS 14-3-3 sigma 14-3-3 phospho-serine/phospho-threonine binding proteins 1053 1994-09-15 2020-11-17 2810 ENSG00000175793 OTTHUMG00000004093 uc001bnc.2 BC023552 NM_006142 CCDS288 P31947 8515476 MGI:1891831 RGD:1304729 601290 HGNC:10773 "ENST00000339276.6|NM_006142.5" +HGNC:10774 SFPQ splicing factor proline and glutamine rich protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "PSF|PPP1R140" "polypyrimidine tract binding protein associated|protein phosphatase 1, regulatory subunit 140" "splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)|splicing factor proline/glutamine-rich" "Protein phosphatase 1 regulatory subunits|RNA binding motif containing" "694|725" 1995-02-22 2016-06-06 2016-06-06 6421 ENSG00000116560 OTTHUMG00000004157 uc001bys.4 X70944 NM_005066 CCDS388 P23246 8449401 MGI:1918764 RGD:727923 SFPQ 605199 326747 HGNC:10774 "ENST00000357214.6|NM_005066.3" +HGNC:10775 SFPQP1 splicing factor proline and glutamine rich pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 SFPQP "splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated) pseudogene|splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated) pseudogene" 1999-10-28 2010-04-16 2016-06-06 2016-06-06 23758 ENSG00000224035 OTTHUMG00000036320 NG_002816 PGOHUM00000233958 HGNC:10775 +HGNC:29574 SFR1 SWI5 dependent homologous recombination repair protein 1 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "MEI5|bA373N18.1|FLJ41960" "C10orf78|MEIR5" "chromosome 10 open reading frame 78|MEI5 recombination repair protein homolog (S. cerevisiae)|SWI5-dependent recombination repair 1|SWI5-dependent homologous recombination repair protein 1" 2004-02-17 2011-08-01 2016-02-01 2016-02-01 119392 ENSG00000156384 OTTHUMG00000019000 uc001kxu.4 BC020892 NM_145247 "CCDS31280|CCDS31279" Q86XK3 "21252223|21779174|20976249" MGI:1915038 RGD:1305481 616527 HGNC:29574 "ENST00000369727.4|NM_001002759.2" +HGNC:51531 SFR1P1 SFR1 pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 2015-02-20 2020-04-16 100130090 ENSG00000227541 OTTHUMG00000022293 NG_022633 PGOHUM00000304822 HGNC:51531 +HGNC:51532 SFR1P2 SFR1 pseudogene 2 pseudogene pseudogene Approved Xq21.2 Xq21.2 2015-02-20 2015-02-20 730792 ENSG00000223707 OTTHUMG00000021935 NG_022614 PGOHUM00000304730 HGNC:51532 +HGNC:10776 SFRP1 secreted frizzled related protein 1 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "SARP2|FRP|FRP-1" "Secreted frizzled-related proteins|MicroRNA protein coding host genes" "733|1691" 1998-07-15 2016-05-04 2016-05-04 6422 ENSG00000104332 OTTHUMG00000164074 uc003xnt.4 AF017987 NM_003012 CCDS34886 Q8N474 "9391078|9192640" MGI:892014 RGD:621074 604156 ligandId:3691 HGNC:10776 "ENST00000220772.8|NM_003012.5" +HGNC:10777 SFRP2 secreted frizzled related protein 2 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "SARP1|SDF-5|FRP-2" Secreted frizzled-related proteins 733 1998-07-15 2016-05-04 2016-05-04 6423 ENSG00000145423 OTTHUMG00000161559 uc003inv.2 AF017986 NM_003013 CCDS34082 Q96HF1 9391078 MGI:108078 RGD:735163 604157 ligandId:3692 HGNC:10777 "ENST00000274063.5|NM_003013.3" +HGNC:10778 SFRP4 secreted frizzled related protein 4 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "frpHE|FRP-4|FRPHE|FRZB-2" secreted frizzled-related protein 4 Secreted frizzled-related proteins 733 1998-07-15 2016-03-18 2021-05-26 6424 ENSG00000106483 OTTHUMG00000023026 uc003tfo.5 AF026692 NM_003014 CCDS5453 Q6FHJ7 "10211996|11069730" MGI:892010 RGD:621075 SFRP4 606570 461302 ligandId:3694 HGNC:10778 "ENST00000436072.7|NM_003014.4" HGNC:10778 +HGNC:10779 SFRP5 secreted frizzled related protein 5 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 SARP3 secreted apoptosis related protein 3 Secreted frizzled-related proteins 733 1998-07-15 2016-05-04 2016-10-05 6425 ENSG00000120057 OTTHUMG00000018866 uc001kor.5 AF017988 NM_003015 CCDS7472 Q5T4F7 9391078 MGI:1860298 RGD:1310369 604158 ligandId:3695 HGNC:10779 "ENST00000266066.4|NM_003015.3" +HGNC:10790 SFSWAP splicing factor SWAP protein-coding gene gene with protein product Approved 12q24.33 12q24.33 SWAP SFRS8 "splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)|splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)|splicing factor, suppressor of white-apricot homolog (Drosophila)" 1995-09-11 2010-09-15 2017-09-13 2017-09-13 6433 ENSG00000061936 OTTHUMG00000168319 uc001uja.3 U08377 NM_004592 "CCDS58290|CCDS9273" Q12872 "8940107|24391519" MGI:101760 RGD:1305004 601945 HGNC:10790 "ENST00000261674.9|NM_004592.4" +HGNC:21102 SFT2D1 SFT2 domain containing 1 protein-coding gene gene with protein product Approved 6q27 06q27 "MGC19825|pRGR1" C6orf83 chromosome 6 open reading frame 83 2003-05-19 2005-07-25 2005-07-25 2015-09-08 113402 ENSG00000198818 OTTHUMG00000016001 uc003qux.4 AF041429 NM_145169 CCDS5292 Q8WV19 MGI:1918689 RGD:1359119 HGNC:21102 "ENST00000361731.4|NM_145169.3" +HGNC:25140 SFT2D2 SFT2 domain containing 2 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "UNQ512|dJ747L4.C1.2" 2005-07-25 2015-09-02 375035 ENSG00000213064 OTTHUMG00000034650 uc001gfk.3 AL035297 NM_199344 CCDS1271 O95562 MGI:1917362 RGD:1310623 HGNC:25140 "ENST00000271375.7|NM_199344.3" +HGNC:28767 SFT2D3 SFT2 domain containing 3 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 MGC5391 2005-07-25 2015-08-25 84826 ENSG00000173349 OTTHUMG00000131532 uc002tpf.4 NM_032740 CCDS2149 Q587I9 12477932 MGI:1914408 RGD:1561764 HGNC:28767 "ENST00000310981.6|NM_032740.4" +HGNC:18383 SFTA1P surfactant associated 1, lncRNA non-coding RNA RNA, long non-coding Approved 10p14 10p14 SFTPF "surfactant associated protein F|surfactant associated 1, pseudogene" Long non-coding RNAs with non-systematic symbols 1992 2002-05-01 2008-08-27 2019-11-28 2019-11-28 207107 ENSG00000225383 OTTHUMG00000017660 uc001ikf.1 AY102069 NR_027082 "28118064|28231733" HGNC:18383 +HGNC:18386 SFTA2 surfactant associated 2 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 SP-G SFTPG surfactant associated protein G 2002-05-01 2008-08-26 2008-08-26 2021-07-28 389376 ENSG00000196260 OTTHUMG00000031183 uc003nsf.4 AY102070 NM_205854 CCDS4691 Q6UW10 "22768197|23094088" MGI:3643293 RGD:1303180 HGNC:18386 "ENST00000359086.4|NM_205854.3" +HGNC:18387 SFTA3 surfactant associated 3 other unknown Approved 14q13.3 14q13.3 "NANCI|SP-H|PAHRF" "NKX2.1 associated non-coding intergenic RNA|pulmonary arterial hypertension related factor" SFTPH surfactant associated protein H 2002-05-01 2008-08-26 2008-08-26 2021-11-17 253970 ENSG00000229415 OTTHUMG00000170540 uc001wtr.4 AY102071 NR_138599 CCDS45097 P0C7M3 "24939938|34126237" 617860 HGNC:18387 +HGNC:10798 SFTPA1 surfactant protein A1 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "SP-A|SP-A1|COLEC4" surfactant, pulmonary-associated protein A1A SFTP1 surfactant, pulmonary-associated protein A1 "Collectins|C-type lectin domain containing" "491|1298" 2001-06-22 2008-08-26 2016-04-25 653509 ENSG00000122852 OTTHUMG00000018565 uc001kar.4 BC026229 NM_005411 "CCDS44445|CCDS44444" Q8IWL2 MGI:109518 RGD:3665 178630 118633 HGNC:10798 "ENST00000398636.8|NM_005411.5" +HGNC:10799 SFTPA2 surfactant protein A2 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "SP-A2|COLEC5" surfactant, pulmonary-associated protein A2A surfactant, pulmonary-associated protein A2 "Collectins|C-type lectin domain containing" "491|1298" 1997-04-16 2008-08-26 2016-01-15 729238 ENSG00000185303 OTTHUMG00000018566 uc001kal.5 NM_001098668 CCDS41540 Q8IWL1 MGI:109518 178642 269879 HGNC:10799 "ENST00000372325.7|NM_001098668.4" HGNC:10799 +HGNC:10800 SFTPA3P surfactant protein A3, pseudogene pseudogene pseudogene Approved 10q22.3 10q22.3 COLEC6 "SFTPP1|SFTPAP1" "surfactant, pulmonary-associated protein A pseudogene 1|surfactant protein A pseudogene 1" Collectins 491 1992-09-28 2009-12-02 2009-12-02 2020-04-20 100288405 ENSG00000225827 OTTHUMG00000018568 NG_016155 1827027 HGNC:10800 +HGNC:10801 SFTPB surfactant protein B protein-coding gene gene with protein product Approved 2p11.2 02p11.2 SP-B SFTP3 surfactant, pulmonary-associated protein B 1988-07-06 2008-08-26 2016-10-05 6439 ENSG00000168878 OTTHUMG00000130181 uc002sqh.4 J02761 NM_198843 CCDS1983 P07988 "2924687|1346779" MGI:109516 RGD:621700 178640 118639 HGNC:10801 "ENST00000519937.7|NM_000542.5" HGNC:10801 +HGNC:10802 SFTPC surfactant protein C protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "SP-C|PSP-C|SMDP2|BRICD6" BRICHOS domain containing 6 SFTP2 surfactant, pulmonary-associated protein C BRICHOS domain containing 457 1988-05-11 2008-08-26 2016-10-05 6440 ENSG00000168484 OTTHUMG00000163775 uc003xaz.4 NM_003018 "CCDS55209|CCDS83259|CCDS43722" P11686 "1859376|16709565" MGI:109517 RGD:3666 178620 118643 HGNC:10802 "ENST00000679463.1|NM_001317778.2" HGNC:10802 +HGNC:10803 SFTPD surfactant protein D protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "SP-D|COLEC7" SFTP4 surfactant, pulmonary-associated protein D "Collectins|C-type lectin domain containing" "491|1298" 1992-06-26 2008-08-26 2016-10-05 6441 ENSG00000133661 OTTHUMG00000018590 uc001kbh.4 L05485 NM_003019 CCDS7362 P35247 "1898081|1339284" MGI:109515 RGD:3667 178635 HGNC:10803 "ENST00000372292.8|NM_003019.5" +HGNC:51589 SFTPD-AS1 SFTPD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2015-03-11 2015-03-11 105419997 ENSG00000273372 OTTHUMG00000186448 AK124605 SFTPD-AS1 +HGNC:16085 SFXN1 sideroflexin 1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "FLJ12876|SLC56A1" "Sideroflexins|Solute carriers" "746|752" 2003-04-25 2017-11-24 94081 ENSG00000164466 OTTHUMG00000130555 uc003mda.3 AF327346 NM_022754 CCDS4394 Q9H9B4 MGI:2137677 RGD:1308482 615569 objectId:3028 HGNC:16085 "ENST00000321442.10|NM_022754.7" +HGNC:16086 SFXN2 sideroflexin 2 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 SLC56A2 "Sideroflexins|Solute carriers" "746|752" 2001-07-17 2018-11-19 118980 ENSG00000156398 OTTHUMG00000018967 uc001kwb.3 AF462052 NM_001350989 CCDS7539 Q96NB2 MGI:2137678 RGD:1306131 615570 objectId:3029 HGNC:16086 "ENST00000369893.10|NM_178858.6" +HGNC:16087 SFXN3 sideroflexin 3 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "SFX3|SLC56A3" "Sideroflexins|Solute carriers" "746|752" 2004-11-24 2017-11-24 81855 ENSG00000107819 OTTHUMG00000018921 uc001ksp.4 AK074707 NM_030971 CCDS7508 Q9BWM7 MGI:2137679 RGD:620716 615571 objectId:3030 HGNC:16087 +HGNC:16088 SFXN4 sideroflexin 4 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 SLC56A4 "Sideroflexins|Solute carriers" "746|752" 2003-04-25 2021-05-26 119559 ENSG00000183605 OTTHUMG00000019147 uc001leb.4 NM_213649 CCDS7610 Q6P4A7 14756423 MGI:2137680 RGD:1306088 615564 392296 HGNC:16088 "ENST00000355697.7|NM_213649.2" HGNC:16088 +HGNC:54574 SFXN4P1 SFXN4 pseudogene 1 pseudogene pseudogene Approved 2q22.2 02q22.2 2019-10-16 2019-10-16 100418906 ENSG00000270390 NG_023614 +HGNC:16073 SFXN5 sideroflexin 5 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "BBG-TCC|SLC56A5" "Sideroflexins|Solute carriers" "746|752" 2001-07-27 2017-11-24 94097 ENSG00000144040 OTTHUMG00000129775 uc002siq.3 AY044437 NM_144579 "CCDS1922|CCDS82469" Q8TD22 "12039050|12150972" MGI:2137681 RGD:628706 615572 objectId:3032 HGNC:16073 "ENST00000272433.7|NM_144579.3" +HGNC:10805 SGCA sarcoglycan alpha protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "SCARMD1|LGMD2D|adhalin|DMDA2|A2" "50kD DAG|adhalin|limb girdle muscular dystrophy 2D" ADL sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 1994-12-14 2015-11-13 2021-05-26 6442 ENSG00000108823 OTTHUMG00000162024 uc002iqi.4 L34355 NM_000023 "CCDS45729|CCDS32679" Q16586 7937874 MGI:894698 RGD:1308062 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCA|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCA|LRG_203|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_203.xml" 600119 118647 HGNC:10805 "ENST00000262018.8|NM_000023.4" HGNC:10805 +HGNC:10806 SGCB sarcoglycan beta protein-coding gene gene with protein product Approved 4q12 04q12 "SGC|A3b" LGMD2E sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) 1995-01-24 2015-11-13 2021-05-26 6443 ENSG00000163069 OTTHUMG00000128697 uc003gzj.3 U29586 NM_000232 CCDS3488 Q16585 8968749 MGI:1346523 RGD:1594202 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCB|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCB|LRG_204|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_204.xml" 600900 118653 HGNC:10806 "ENST00000381431.10|NM_000232.5" HGNC:10806 +HGNC:10807 SGCD sarcoglycan delta protein-coding gene gene with protein product Approved 5q33.2-q33.3 05q33.2-q33.3 "DAGD|LGMD2F|CMD1L" sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 1997-07-22 2015-11-13 2021-05-26 6444 ENSG00000170624 OTTHUMG00000163445 uc003lwc.5 BX537948 NM_000337 "CCDS47325|CCDS47326|CCDS47327" Q92629 "8776597|8841194|10974018" MGI:1346525 RGD:1306638 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCD|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCD|LRG_205|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_205.xml" 601411 118658 HGNC:10807 "ENST00000337851.9|NM_000337.6" HGNC:10807 +HGNC:10808 SGCE sarcoglycan epsilon protein-coding gene gene with protein product Approved 7q21.3 07q21.3 DYT11 1999-01-11 2015-11-13 2021-05-26 8910 ENSG00000127990 OTTHUMG00000022828 uc003unl.3 AF036364 NM_001099400 "CCDS87519|CCDS87520|CCDS87522|CCDS47642|CCDS47643|CCDS87523|CCDS75634|CCDS5637" O43556 "9475163|9405466" MGI:1329042 RGD:1303201 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCE|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCE|LRG_206|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_206.xml" 604149 118663 HGNC:10808 "ENST00000648936.2|NM_003919.3" HGNC:10808 +HGNC:54675 SGCEP1 SGCE pseudogene 1 pseudogene pseudogene Approved 2q22.3 02q22.3 2019-11-27 2019-11-27 474174 ENSG00000235352 NG_004723 +HGNC:10809 SGCG sarcoglycan gamma protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "SCARMD2|DAGA4|SCG3|DMDA|TYPE|A4|MGC130048" "Maghrebian myopathy (autosomal recessive)|35kD dystrophin-associated glycoprotein|limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)|gamma sarcoglycan" "DMDA1|MAM|LGMD2C" sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 1997-07-22 2015-11-13 2021-05-26 6445 ENSG00000102683 OTTHUMG00000016563 uc001uom.3 U34976 NM_000231 CCDS9299 Q13326 8968757 MGI:1346524 RGD:1359577 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/SGCG|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCG|LRG_207|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_207.xml" 608896 118666 HGNC:10809 "ENST00000218867.4|NM_000231.3" HGNC:10809 +HGNC:14075 SGCZ sarcoglycan zeta protein-coding gene gene with protein product Approved 8p22 08p22 ZSG1 "Zeta-sarcoglycan|Zeta-SG" MicroRNA protein coding host genes 1691 2002-09-09 2015-11-13 2021-12-03 137868 ENSG00000185053 OTTHUMG00000090827 uc003wwq.4 AY028700 NM_139167 CCDS5992 Q96LD1 12189167 MGI:2388820 RGD:1307788 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SGCZ|LRG_208|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_208.xml" 608113 HGNC:14075 "ENST00000382080.6|NM_139167.4" +HGNC:25156 SGF29 SAGA complex associated factor 29 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ32446|TDRD29" SAGA-associated factor 29 homolog (yeast) CCDC101 coiled-coil domain containing 101 "Tudor domain containing|ATAC complex|SAGA complex" "780|1058|1059" 2006-04-03 2015-08-11 2015-08-11 2015-08-11 112869 ENSG00000176476 OTTHUMG00000131763 AK057008 NM_138414 CCDS10635 Q96ES7 "17334388|21685874" MGI:1922815 RGD:1310609 613374 HGNC:25156 "ENST00000317058.8|NM_138414.3" +HGNC:25412 SGIP1 SH3GL interacting endocytic adaptor 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 DKFZp761D221 SH3 domain GRB2 like endophilin interacting protein 1 MicroRNA protein coding host genes 1691 2004-06-01 2019-07-18 2019-07-18 84251 ENSG00000118473 OTTHUMG00000009161 uc001dcr.4 AL136561 NM_032291 "CCDS76171|CCDS30744" Q9BQI5 11230166 MGI:1920344 RGD:1564957 611540 HGNC:25412 "ENST00000371037.9|NM_032291.4" +HGNC:10810 SGK1 serum/glucocorticoid regulated kinase 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 SGK serum/glucocorticoid regulated kinase 1997-06-12 2007-12-05 2007-12-05 2016-10-05 6446 ENSG00000118515 OTTHUMG00000015613 uc003qen.5 AJ000512 NM_001143676 "CCDS78184|CCDS47478|CCDS47477|CCDS47476|CCDS5170" O00141 "9114008|9722955" MGI:1340062 RGD:3668 602958 objectId:1534 HGNC:10810 "ENST00000367858.10|NM_001143676.3" +HGNC:13900 SGK2 serum/glucocorticoid regulated kinase 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "serum/glucocorticoid regulated kinase 2|SGK2, serine/threonine kinase 2" 2000-11-21 2019-01-28 2021-04-13 10110 ENSG00000101049 OTTHUMG00000033054 uc002xku.4 AF169034 NM_001199264 CCDS13321 Q9HBY8 "10548550|26740304|26392083|15134818" MGI:1351318 RGD:620232 LRG_1050|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1050.xml 607589 objectId:1535 2.7.11.1 HGNC:13900 "ENST00000373100.7|NM_170693.3" +HGNC:10812 SGK3 serum/glucocorticoid regulated kinase family member 3 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "SGK2|SGKL" "serum/glucocorticoid regulated kinase-like|serum/glucocorticoid regulated kinase family, member 3" 1999-08-12 2005-09-13 2015-11-18 2016-11-15 23678 ENSG00000104205 OTTHUMG00000164561 uc003xwr.4 NM_001033578 "CCDS6196|CCDS6195" Q96BR1 "10585774|10548550" MGI:2182368 RGD:620242 607591 objectId:1536 HGNC:10812 "ENST00000521198.7|NM_001033578.3" HGNC:10812 +HGNC:29799 SGMS1 sphingomyelin synthase 1 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "MOB|MGC17342|SMS1" phosphatidylcholine:ceramide cholinephosphotransferase 1 TMEM23 transmembrane protein 23 Sterile alpha motif domain containing 760 2004-03-23 2007-03-16 2007-03-16 2016-10-05 259230 ENSG00000198964 OTTHUMG00000018231 uc001jje.4 AY280959 NM_147156 CCDS7240 Q86VZ5 "11841947|14976195" MGI:2444110 RGD:727912 611573 objectId:2520 2.7.8.27 HGNC:29799 "ENST00000361781.7|NM_147156.4" +HGNC:49683 SGMS1-AS1 SGMS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.23 10q11.23 Antisense RNAs 1987 2014-02-01 2016-08-17 104355295 ENSG00000226200 OTTHUMG00000018230 NR_126411 24495672 MGI:1914438 SGMS1-AS1 HGNC:49683 +HGNC:28395 SGMS2 sphingomyelin synthase 2 protein-coding gene gene with protein product Approved 4q25 04q25 "MGC26963|SMS2" 2007-03-15 2014-11-19 166929 ENSG00000164023 OTTHUMG00000131811 uc003hyl.6 BC041369 NM_152621 CCDS3677 Q8NHU3 14685263 MGI:1921692 RGD:1305778 611574 objectId:2521 2.7.8.27 HGNC:28395 "ENST00000690982.1|NM_001375905.1" HGNC:28395 +HGNC:25088 SGO1 shugoshin 1 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 NY-BR-85 SGOL1 shugoshin-like 1 (S. pombe) 2004-04-05 2016-03-18 2016-03-18 2021-05-26 151648 ENSG00000129810 OTTHUMG00000130479 uc003cbw.4 BC001339 NM_138484 "CCDS46771|CCDS56243|CCDS46774|CCDS2635|CCDS33716|CCDS46772|CCDS46773" Q5FBB7 12747765 MGI:1919665 RGD:1593238 609168 444785 HGNC:25088 "ENST00000412997.6|NM_001199251.3" HGNC:25088 +HGNC:41081 SGO1-AS1 SGO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 SGOL1-AS1 "SGOL1 antisense RNA 1 (non-protein coding)|SGOL1 antisense RNA 1" Antisense RNAs 1987 2011-07-28 2016-03-18 2016-03-18 2019-07-12 100874028 ENSG00000231304 OTTHUMG00000155532 uc284pts.1 NR_132785 31156154 SGO1-AS1 HGNC:41081 +HGNC:50776 SGO1P1 shugoshin 1 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 SGOL1P1 shugoshin-like 1 (S. pombe) pseudogene 1 2014-06-18 2016-03-18 2016-03-18 2016-03-18 100533666 ENSG00000270615 OTTHUMG00000184292 NG_028827 PGOHUM00000244068 HGNC:50776 +HGNC:50777 SGO1P2 shugoshin 1 pseudogene 2 pseudogene pseudogene Approved 7p12.1 07p12.1 SGOL1P2 shugoshin-like 1 (S. pombe) pseudogene 2 2014-06-18 2016-03-18 2016-03-18 2016-03-18 100533661 ENSG00000234304 OTTHUMG00000155992 NG_028667 PGOHUM00000232695 HGNC:50777 +HGNC:30812 SGO2 shugoshin 2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "TRIPIN|FLJ25211" SGOL2 shugoshin-like 2 (S. pombe) 2004-04-05 2016-03-18 2016-03-18 2021-12-03 151246 ENSG00000163535 OTTHUMG00000154535 uc002uvw.3 AY094614 NM_152524 CCDS42796 Q562F6 17485487 MGI:1098767 RGD:1308450 612425 HGNC:30812 "ENST00000357799.9|NM_152524.6" +HGNC:10817 SGPL1 sphingosine-1-phosphate lyase 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 SPL 1999-02-03 2021-05-26 8879 ENSG00000166224 OTTHUMG00000018421 uc001jrm.4 AI128825 NM_003901 CCDS31216 O95470 "9464245|17090686" MGI:1261415 RGD:628599 603729 objectId:2522 HGNC:10817 "ENST00000373202.8|NM_003901.4" HGNC:10817 +HGNC:17720 SGPP1 sphingosine-1-phosphate phosphatase 1 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 Sphingosine-1-phosphate phosphatases 1070 2003-01-24 2016-10-05 81537 ENSG00000126821 OTTHUMG00000029080 uc001xgj.5 AJ293294 NM_030791 CCDS9760 Q9BX95 10859351 MGI:2135760 RGD:727829 612826 objectId:2523 HGNC:17720 "ENST00000247225.7|NM_030791.4" +HGNC:19953 SGPP2 sphingosine-1-phosphate phosphatase 2 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "SPP2|FLJ39004" Sphingosine-1-phosphate phosphatases 1070 2003-02-12 2010-05-26 2016-10-05 130367 ENSG00000163082 OTTHUMG00000133156 uc010zlo.3 AF542512 NM_152386 CCDS2453 Q8IWX5 12411432 MGI:3589109 RGD:1565739 612827 objectId:2524 HGNC:19953 "ENST00000321276.8|NM_152386.4" +HGNC:10818 SGSH N-sulfoglucosamine sulfohydrolase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "HSS|MPS3A|SFMD" "sulfamidase|mucopolysaccharidosis type IIIA" Sulfatases 410 1997-06-24 2008-07-31 2019-08-21 6448 ENSG00000181523 OTTHUMG00000177569 uc002jxz.5 BC047318 NM_000199 CCDS11770 P51688 7493035 MGI:1350341 RGD:1591134 605270 118674 3.10.1.1 HGNC:10818 "ENST00000326317.11|NM_000199.5" HGNC:10818 +HGNC:29410 SGSM1 small G protein signaling modulator 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 KIAA1941 RUTBC2 RUN and TBC1 domain containing 2 Small G protein signaling modulators 751 2004-02-27 2007-08-14 2007-08-14 2018-11-19 129049 ENSG00000167037 OTTHUMG00000150837 uc003abg.3 AB075821 NM_001039948 "CCDS74834|CCDS46674|CCDS46675" Q2NKQ1 "11853319|17509819|22637480" MGI:107320 RGD:1308178 611417 HGNC:29410 "ENST00000400358.9|NM_001098497.3" +HGNC:29026 SGSM2 small G protein signaling modulator 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 KIAA0397 RUTBC1 RUN and TBC1 domain containing 1 Small G protein signaling modulators 751 2004-02-27 2007-08-14 2007-08-14 2020-04-01 9905 ENSG00000141258 OTTHUMG00000177637 uc002fum.5 BC039204 NM_014853 "CCDS45570|CCDS32526|CCDS86557" O43147 "9455477|17509819|21808068" MGI:2144695 RGD:1306957 611418 HGNC:29026 "ENST00000268989.8|NM_014853.3" +HGNC:56091 SGSM2-AS1 SGSM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 Antisense RNAs 1987 2021-12-20 2021-12-20 123706538 ENSG00000263345 +HGNC:25228 SGSM3 small G protein signaling modulator 3 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "DJ1042K10.2|RUSC3|RabGAP-5|RABGAP5" RUN and SH3 containing 3 RUTBC3 RUN and TBC1 domain containing 3 Small G protein signaling modulators 751 2004-02-27 2007-08-14 2007-08-14 2016-10-05 27352 ENSG00000100359 OTTHUMG00000151141 uc003ayu.2 AL022238 NM_015705 CCDS14002 Q96HU1 "11214971|17509819" MGI:1916329 RGD:735113 610440 HGNC:25228 "ENST00000248929.14|NM_015705.6" +HGNC:41088 SGSM3-AS1 SGSM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 Antisense RNAs 1987 2020-03-19 2020-03-19 107985538 ENSG00000229999 OTTHUMG00000151143 +HGNC:10819 SGTA small glutamine rich tetratricopeptide repeat co-chaperone alpha protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "UBP|SGT1|Vpu|hSGT|alphaSGT" viral protein U-binding protein SGT "small glutamine-rich tetratricopeptide repeat (TPR)-containing|small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha|small glutamine rich tetratricopeptide repeat containing alpha" "Tetratricopeptide repeat domain containing|GET4-GET5 transmembrane domain recognition complex subunits" "769|1914" 1998-03-24 2003-11-26 2021-02-11 2021-09-17 6449 ENSG00000104969 OTTHUMG00000180474 uc002lwi.2 AJ223828 NM_003021 CCDS12094 O43765 "9740675|12735788|23818240" MGI:1098703 RGD:620815 603419 HGNC:10819 "ENST00000221566.7|NM_003021.4" +HGNC:23567 SGTB small glutamine rich tetratricopeptide repeat co-chaperone beta protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "Sgt2|FLJ39002" "small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta|small glutamine rich tetratricopeptide repeat containing beta" Tetratricopeptide repeat domain containing 769 2003-11-24 2021-02-11 2021-02-11 54557 ENSG00000197860 OTTHUMG00000097801 uc003jud.4 AK096321 NM_019072 CCDS3988 Q96EQ0 "23820636|30639199" MGI:2444615 RGD:727976 HGNC:23567 "ENST00000381007.9|NM_019072.3" +HGNC:30417 SH2B1 SH2B adaptor protein 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ30542|SH2B" SH2-B homolog "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 2006-07-04 2017-03-30 25970 ENSG00000178188 OTTHUMG00000176590 uc002drm.4 AK055104 NM_015503 "CCDS53996|CCDS76851|CCDS32424|CCDS53997" Q9NRF2 "11827956|10594240" MGI:1201407 RGD:620132 608937 293315 HGNC:30417 "ENST00000684370.1|NM_001387430.1" HGNC:30417 +HGNC:17381 SH2B2 SH2B adaptor protein 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 APS adaptor protein with pleckstrin homology and src "Pleckstrin homology domain containing|SH2 domain containing|MicroRNA protein coding host genes" "682|741|1691" 2006-07-04 2013-02-14 10603 ENSG00000160999 OTTHUMG00000150652 uc033aba.2 AB000520 NM_020979 CCDS78264 O14492 9233773 MGI:1345171 RGD:69284 605300 HGNC:17381 "ENST00000444095.3|NM_001359228.2" +HGNC:29605 SH2B3 SH2B adaptor protein 3 protein-coding gene gene with protein product Approved 12q24.12 12q24.12 "LNK|IDDM20" lymphocyte adaptor protein "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 2006-07-04 2021-04-13 10019 ENSG00000111252 OTTHUMG00000169550 uc001tse.3 AF055581 NM_005475 "CCDS76602|CCDS9153" Q9UQQ2 10799879 MGI:893598 RGD:68411 LRG_621|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_621.xml SH2B3 605093 394580 HGNC:29605 "ENST00000341259.7|NM_005475.3" HGNC:29605 +HGNC:10820 SH2D1A SH2 domain containing 1A protein-coding gene gene with protein product Approved Xq25 Xq25 "XLP|MTCP1|DSHP|XLPD|EBVS|SAP" Duncan's disease "IMD5|LYP" "lymphoproliferative syndrome|SH2 domain protein 1A" SH2 domain containing 741 1989-06-30 2010-04-21 2021-04-13 4068 ENSG00000183918 OTTHUMG00000022344 uc004euf.6 AL023657 NM_002351 "CCDS14608|CCDS48162" O60880 "9771704|9774102" MGI:1328352 RGD:1562408 "SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)|http://structure.bmc.lu.se/idbase/SH2D1Abase/|LRG_106|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_106.xml" 300490 118679 HGNC:10820 "ENST00000371139.9|NM_002351.5" HGNC:10820 +HGNC:30416 SH2D1B SH2 domain containing 1B protein-coding gene gene with protein product Approved 1q23.3 01q23.3 EAT2 SH2 domain containing 741 2005-05-09 2015-09-02 117157 ENSG00000198574 OTTHUMG00000031377 uc001gbz.2 AF484964 NM_053282 CCDS30928 O14796 "9000139|11689425" "MGI:1349420|MGI:3622649" RGD:1563935 608510 HGNC:30416 "ENST00000367929.3|NM_053282.5" +HGNC:10821 SH2D2A SH2 domain containing 2A protein-coding gene gene with protein product Approved 1q23.1 01q23.1 "TSAd|F2771" "T lymphocyte specific adaptor protein|T cell specific adapter protein TSAd|T cell specific adpater protein TSAd" SH2 domain protein 2A SH2 domain containing 741 1998-11-19 2010-04-21 2016-10-05 9047 ENSG00000027869 OTTHUMG00000041305 uc001fqd.3 AJ000553 NM_003975 "CCDS53380|CCDS1159|CCDS53381" Q9NP31 9468509 MGI:1351596 RGD:1303076 604514 HGNC:10821 "ENST00000368199.8|NM_003975.4" +HGNC:16885 SH2D3A SH2 domain containing 3A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 NSP1 SH2 domain-containing 3A "SH2 domain containing|NSP adaptor proteins" "741|1562" 2001-11-19 2002-01-14 2020-04-01 10045 ENSG00000125731 OTTHUMG00000181868 uc002mft.4 AF124249 NM_005490 CCDS12173 Q9BRG2 10187783 RGD:2322080 604721 HGNC:16885 "ENST00000245908.11|NM_005490.3" +HGNC:16884 SH2D3C SH2 domain containing 3C protein-coding gene gene with protein product Approved 9q34.11 09q34.11 NSP3 SH2 domain-containing 3C "SH2 domain containing|NSP adaptor proteins" "741|1562" 2001-11-19 2002-01-14 2016-10-05 10044 ENSG00000095370 OTTHUMG00000020717 uc004bsc.4 AF124251 NM_005489 "CCDS48027|CCDS59145|CCDS6878|CCDS6877|CCDS48028|CCDS48026" Q8N5H7 10187783 MGI:1351631 RGD:1307287 604722 HGNC:16884 "ENST00000314830.13|NM_170600.3" +HGNC:26102 SH2D4A SH2 domain containing 4A protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "FLJ20967|SH2A|PPP1R38" protein phosphatase 1, regulatory subunit 38 "Protein phosphatase 1 regulatory subunits|SH2 domain containing" "694|741" 2004-04-16 2016-10-05 63898 ENSG00000104611 OTTHUMG00000097005 uc003wzb.4 AY190323 NM_022071 "CCDS6009|CCDS55206" Q9H788 MGI:1919531 RGD:1307991 614968 HGNC:26102 "ENST00000265807.8|NM_022071.4" +HGNC:31440 SH2D4B SH2 domain containing 4B protein-coding gene gene with protein product Approved 10q23.1 10q23.1 SH2 domain containing 741 2004-04-16 2020-04-20 387694 ENSG00000178217 OTTHUMG00000018617 uc001kck.1 NM_001145719 "CCDS44449|CCDS7370" Q5SQS7 MGI:1925182 RGD:1311591 HGNC:31440 "ENST00000646907.2|NM_001388272.1" +HGNC:28819 SH2D5 SH2 domain containing 5 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 2005-08-08 2018-11-19 400745 ENSG00000189410 OTTHUMG00000002620 uc009vpy.2 "AK124869|AK123236" NM_001103161 "CCDS41280|CCDS44080" Q6ZV89 25331951 MGI:2446215 RGD:1305952 HGNC:28819 "ENST00000444387.7|NM_001103161.2" +HGNC:30439 SH2D6 SH2 domain containing 6 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ35993|SLNK" SH2 linker protein related to BLNK SH2 domain containing 741 2006-08-24 2022-01-11 284948 ENSG00000152292 OTTHUMG00000130176 uc002spq.3 AF450483 NM_198482 Q7Z4S9 16793553 MGI:1918380 RGD:1587427 HGNC:30439 "ENST00000469800.7|NM_001394463.1" +HGNC:34549 SH2D7 SH2 domain containing 7 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 LOC646892 SH2 domain containing 741 2008-10-15 2014-11-19 646892 ENSG00000183476 OTTHUMG00000154271 uc010blb.2 NM_001101404 CCDS45315 A6NKC9 MGI:2441692 RGD:1309791 HGNC:34549 "ENST00000328828.6|NM_001101404.2" +HGNC:10822 SH3BGR SH3 domain binding glutamate rich protein protein-coding gene gene with protein product Approved 21q22.2 21q22.2 21-GARP 21-glutamic acid-rich protein "SH3 domain binding glutamic acid-rich protein|SH3 domain binding glutamate-rich protein" MicroRNA protein coding host genes 1691 1996-10-11 2016-01-29 2016-10-05 6450 ENSG00000185437 OTTHUMG00000074113 uc002yya.4 NM_007341 "CCDS33560|CCDS82675" P55822 9050928 MGI:1354740 RGD:1563599 602230 HGNC:10822 "ENST00000333634.10|NM_007341.3" +HGNC:10823 SH3BGRL SH3 domain binding glutamate rich protein like protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 MGC117402 SH3 domain binding glutamic acid-rich protein like 1998-01-21 2016-01-29 2016-10-05 6451 ENSG00000131171 OTTHUMG00000021910 uc004eef.4 AF042081 NM_003022 CCDS14449 O75368 9642120 MGI:1930849 RGD:1560520 300190 HGNC:10823 "ENST00000373212.6|NM_003022.3" +HGNC:15567 SH3BGRL2 SH3 domain binding glutamate rich protein like 2 protein-coding gene gene with protein product Approved 6q14.1 06q14.1 SH3 domain binding glutamic acid-rich protein like 2 2001-04-26 2016-01-29 2016-01-29 83699 ENSG00000198478 OTTHUMG00000015081 uc003piz.2 AJ297972 NM_031469 CCDS4991 Q9UJC5 12095696 MGI:1915350 RGD:1591931 615678 HGNC:15567 "ENST00000369838.6|NM_031469.4" +HGNC:15568 SH3BGRL3 SH3 domain binding glutamate rich protein like 3 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SH3 domain binding glutamic acid-rich protein like 3 2001-04-26 2016-01-29 2016-01-29 83442 ENSG00000142669 OTTHUMG00000003381 uc001blu.4 AJ297915 NM_031286 CCDS278 Q9H299 MGI:1920973 RGD:1308118 615679 HGNC:15568 "ENST00000270792.10|NM_031286.4" +HGNC:10824 SH3BP1 SH3 domain binding protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 ARHGAP43 "N-BAR domain containing|AH/BAR family Rho GTPase activating proteins" "1289|1923" 1999-10-19 2016-04-28 2021-04-13 23616 ENSG00000100092 OTTHUMG00000030996 uc003ati.4 NM_018957 CCDS13952 Q9Y3L3 "10591208|12029088" MGI:104603 RGD:1306275 LRG_1154|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1154.xml 617368 HGNC:10824 "ENST00000649765.2|NM_018957.6" +HGNC:10825 SH3BP2 SH3 domain binding protein 2 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "RES4-23|CRBM" Cherubism "Pleckstrin homology domain containing|SH2 domain containing" "682|741" 1996-08-01 2016-04-28 2021-04-13 6452 ENSG00000087266 OTTHUMG00000160801 uc003gfi.5 BC022996 NM_003023 "CCDS33944|CCDS54715|CCDS54716" P78314 "9299232|11381256" MGI:1346349 RGD:1310588 LRG_1334|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1334.xml 602104 118689 HGNC:10825 "ENST00000503393.8|NM_001122681.2" HGNC:10825 +HGNC:10826 SH3BP4 SH3 domain binding protein 4 protein-coding gene gene with protein product Approved 2q37.2 02q37.2 1999-08-26 2016-04-28 2016-10-05 23677 ENSG00000130147 OTTHUMG00000133292 uc002vvp.4 AF147747 NM_001371302 CCDS2513 Q9P0V3 10644451 MGI:2138297 RGD:620219 605611 HGNC:10826 "ENST00000392011.7|NM_014521.3" +HGNC:10827 SH3BP5 SH3 domain binding protein 5 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 Sab SH3 binding protein SH3-domain binding protein 5 (BTK-associated) 1999-09-07 2016-04-28 2016-10-05 9467 ENSG00000131370 OTTHUMG00000129859 uc003bzp.3 AB005047 NM_004844 "CCDS2625|CCDS43055" O60239 "9571151|10339589" MGI:1344391 RGD:620220 605612 HGNC:10827 "ENST00000383791.8|NM_004844.5" +HGNC:44501 SH3BP5-AS1 SH3BP5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 Antisense RNAs 1987 2012-11-12 2012-11-12 100505696 ENSG00000224660 OTTHUMG00000155575 uc003bzo.3 NR_046084 SH3BP5-AS1 HGNC:44501 +HGNC:29360 SH3BP5L SH3 binding domain protein 5 like protein-coding gene gene with protein product Approved 1q44 01q44 KIAA1720 2005-07-29 2016-04-28 2016-04-28 80851 ENSG00000175137 OTTHUMG00000040389 uc001iew.2 AB051507 NM_030645 CCDS31126 Q7L8J4 MGI:1933124 RGD:1590939 HGNC:29360 "ENST00000366472.6|NM_030645.3" +HGNC:30418 SH3D19 SH3 domain containing 19 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "DKFZp434D0215|EVE1|EBP|Kryn|SH3P19|Eve-1" EEN binding protein 2008-02-18 2009-03-05 2009-03-05 2017-03-10 152503 ENSG00000109686 OTTHUMG00000154051 uc010ipl.1 BX647422 NM_001009555 "CCDS34077|CCDS47144|CCDS47143" Q5HYK7 12615363 MGI:1350923 RGD:1304885 608674 HGNC:30418 "ENST00000604030.7|NM_001378122.1" +HGNC:26236 SH3D21 SH3 domain containing 21 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ22938 C1orf113 chromosome 1 open reading frame 113 2005-06-08 2011-02-21 2011-02-21 2022-01-11 79729 ENSG00000214193 OTTHUMG00000007868 uc010oia.2 AK056459 NM_024676 CCDS30674 A4FU49 31844142 MGI:1914188 RGD:1305090 HGNC:26236 "ENST00000453908.8|NM_001162530.2" +HGNC:10830 SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SH3P8|SH3D2B|CNSA1|EEN|MGC111371" "extra 11-19 leukemia fusion|fusion partner of MLL|SH3-containing Grb-2-like 1 protein|SH3-containing protein EEN|SH3 domain GRB2-like 1|endophilin A2" "SH3-domain GRB2-like 1|SH3 domain containing GRB2 like 1" N-BAR domain containing 1289 1996-10-26 2016-05-18 2019-08-21 6455 ENSG00000141985 OTTHUMG00000181918 uc002maj.4 NM_003025 "CCDS59335|CCDS32874|CCDS56076" Q99961 9169142 MGI:700010 RGD:708456 SH3GL1 601768 HGNC:10830 "ENST00000269886.7|NM_003025.4" +HGNC:10835 SH3GL1P1 SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 CNSA-P1 SH3GLP1 "SH3-domain GRB2-like pseudogene 1|SH3 domain containing GRB2 like 1 pseudogene 1" 1996-10-26 2009-12-03 2016-05-18 2017-10-26 6458 ENSG00000266777 OTTHUMG00000179459 X99658 NG_006135.2 9169142 PGOHUM00000294391 HGNC:10835 +HGNC:10836 SH3GL1P2 SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 2 pseudogene pseudogene Approved 17q11.2 17q11.2 CNSA-P2 SH3GLP2 "SH3-domain GRB2-like pseudogene 2|SH3 domain containing GRB2 like 1 pseudogene 2" 1996-10-26 2009-12-03 2016-05-18 2016-05-18 6459 ENSG00000264943 OTTHUMG00000178988 X99661 NR_033420 9169142 PGOHUM00000237347 HGNC:10836 +HGNC:10837 SH3GL1P3 SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 3 pseudogene pseudogene Approved 17q24.2 17q24.2 CNSA-P3 SH3GLP3 "SH3-domain GRB2-like pseudogene 3|SH3 domain containing GRB2 like 1 pseudogene 3" 1996-10-26 2009-12-03 2016-05-18 2017-10-26 727736 ENSG00000267352 OTTHUMG00000180161 X99662 NR_026577 9169142 PGOHUM00000294210 HGNC:10837 +HGNC:10831 SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 protein-coding gene gene with protein product Approved 9p22.2 09p22.2 "SH3P4|SH3D2A|CNSA2|EEN-B1" endophilin-A1 SH3 domain containing GRB2 like 2 N-BAR domain containing 1289 1996-10-26 2016-06-13 2016-10-05 6456 ENSG00000107295 OTTHUMG00000019601 uc003zna.4 X99657 NM_003026 CCDS6483 Q99962 9169142 MGI:700009 RGD:620276 604465 HGNC:10831 "ENST00000380607.5|NM_003026.5" +HGNC:10832 SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "SH3D2C|SH3P13|CNSA3|EEN-B2|HsT19371" endophilin A3 SH3 domain containing GRB2 like 3 N-BAR domain containing 1289 1996-10-26 2016-06-13 2016-10-05 6457 ENSG00000140600 OTTHUMG00000147361 uc002bjw.4 AF036271 NM_003027 "CCDS10325|CCDS73772" Q99963 9169142 MGI:700011 RGD:620578 603362 HGNC:10832 "ENST00000427482.7|NM_003027.5" +HGNC:10833 SH3GLB1 SH3 domain containing GRB2 like, endophilin B1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "CGI-61|KIAA0491|Bif-1|PPP1R70" protein phosphatase 1, regulatory subunit 70 SH3-domain, GRB2-like, endophilin B1 "Protein phosphatase 1 regulatory subunits|N-BAR domain containing" "694|1289" 2000-07-31 2017-02-21 2017-02-21 51100 ENSG00000097033 OTTHUMG00000010257 uc001dlw.4 AF263293 NM_016009 "CCDS72819|CCDS710|CCDS55613|CCDS55612" Q9Y371 "11161816|11259440" MGI:1859730 RGD:1304859 609287 HGNC:10833 "ENST00000370558.8|NM_016009.5" +HGNC:10834 SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 KIAA1848 SH3-domain, GRB2-like, endophilin B2 N-BAR domain containing 1289 2000-07-31 2017-02-21 2017-02-21 56904 ENSG00000148341 OTTHUMG00000020769 uc004bwv.5 AF257319 NM_001287045 "CCDS69680|CCDS6916" Q9NR46 11161816 MGI:2385131 RGD:1305886 609288 HGNC:10834 "ENST00000372564.8|NM_020145.4" +HGNC:13867 SH3KBP1 SH3 domain containing kinase binding protein 1 protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 CIN85 2000-12-14 2016-04-28 2020-04-02 30011 ENSG00000147010 OTTHUMG00000021227 uc004czm.4 AF230904 NM_031892 "CCDS35213|CCDS55383|CCDS14193" Q96B97 "8889549|7566098" MGI:1889583 RGD:620904 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SH3KBP1 300374 HGNC:13867 "ENST00000397821.8|NM_031892.3" +HGNC:23664 SH3PXD2A SH3 and PX domains 2A protein-coding gene gene with protein product Approved 10q24.33 10q24.33 "FISH|KIAA0418" five SH3 domains SH3MD1 SH3 multiple domains 1 2003-12-01 2006-02-13 2006-02-13 2016-10-05 9644 ENSG00000107957 OTTHUMG00000018997 uc001kxj.2 AB007878 NM_014631 CCDS31278 Q5TCZ1 9687503 MGI:1298393 RGD:1311185 619455 HGNC:23664 "ENST00000369774.9|NM_001394015.1" +HGNC:45242 SH3PXD2A-AS1 SH3PXD2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.33 10q24.33 Antisense RNAs 1987 2013-03-11 2018-06-14 100505839 ENSG00000280693 OTTHUMG00000189516 uc057vto.1 AK056784 NR_038940 29734178 SH3PXD2A-AS1 HGNC:45242 +HGNC:29242 SH3PXD2B SH3 and PX domains 2B protein-coding gene gene with protein product Approved 5q35.1 05q35.1 FLJ20831 KIAA1295 KIAA1295 2004-04-16 2006-02-13 2006-02-13 2020-04-20 285590 ENSG00000174705 OTTHUMG00000163280 uc003mbr.3 AK095834 NM_017963 "CCDS34291|CCDS78084" A1X283 10718198 MGI:2442062 RGD:1309926 613293 225343 HGNC:29242 "ENST00000311601.6|NM_001017995.3" HGNC:29242 +HGNC:17650 SH3RF1 SH3 domain containing ring finger 1 protein-coding gene gene with protein product Approved 4q32.3-q33 04q32.3-q33 "POSH|RNF142|KIAA1494" plenty of SH3 domains SH3MD2 SH3 multiple domains 2 Ring finger proteins 58 2003-12-01 2006-02-13 2006-02-13 2018-02-13 57630 ENSG00000154447 OTTHUMG00000161010 uc003isa.2 BC033203 NM_020870 CCDS34099 Q7Z6J0 9482736 MGI:1913066 RGD:735154 618642 HGNC:17650 "ENST00000284637.14|NM_020870.4" +HGNC:26299 SH3RF2 SH3 domain containing ring finger 2 protein-coding gene gene with protein product Approved 5q32 05q32 "FLJ23654|RNF158|Hepp1|POSHER" "heart protein phosphatase 1-binding protein|POSH-eliminating RING protein" PPP1R39 protein phosphatase 1, regulatory subunit 39 "Ring finger proteins|Protein phosphatase 1 regulatory subunits" "58|694" 2004-03-05 2011-11-04 2011-11-04 2014-11-19 153769 ENSG00000156463 OTTHUMG00000129685 uc011dbl.2 AL833297 NM_152550 CCDS4280 Q8TEC5 22128169 MGI:2444628 RGD:1308415 613377 HGNC:26299 "ENST00000359120.9|NM_152550.4" +HGNC:24699 SH3RF3 SH3 domain containing ring finger 3 protein-coding gene gene with protein product Approved 2q13 02q13 "FLJ00204|POSH2" SH3MD4 SH3 multiple domains 4 Ring finger proteins 58 2004-03-05 2008-05-14 2008-05-14 2015-09-02 344558 ENSG00000172985 OTTHUMG00000153439 uc010ywt.2 AK074131 NM_001099289 CCDS74557 Q8TEJ3 16374509 MGI:2444637 RGD:1589772 618933 HGNC:24699 "ENST00000309415.8|NM_001099289.3" +HGNC:44168 SH3RF3-AS1 SH3RF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q13 02q13 SH3RF3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2016-10-05 100287216 ENSG00000259863 OTTHUMG00000153437 uc061mta.1 NR_029193 SH3RF3-AS1 HGNC:44168 +HGNC:26009 SH3TC1 SH3 domain and tetratricopeptide repeats 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 FLJ20356 Tetratricopeptide repeat domain containing 769 2004-01-08 2015-09-02 54436 ENSG00000125089 OTTHUMG00000160934 uc003gkv.5 AK074093 NM_018986 CCDS3399 Q8TE82 MGI:2678949 RGD:1305610 HGNC:26009 "ENST00000245105.8|NM_018986.5" +HGNC:29427 SH3TC2 SH3 domain and tetratricopeptide repeats 2 protein-coding gene gene with protein product Approved 5q32 05q32 "KIAA1985|CMT4C" "Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes" "769|1691" 2004-12-15 2021-04-13 79628 ENSG00000169247 OTTHUMG00000129930 uc003lpu.4 AK127248 NM_024577 CCDS4293 Q8TF17 14574644 MGI:2444417 RGD:1309038 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_269|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_269.xml" 608206 118693 HGNC:29427 "ENST00000515425.6|NM_024577.4" HGNC:29427 +HGNC:52905 SH3TC2-DT SH3TC2 divergent transcript non-coding RNA RNA, long non-coding Approved 5q32 05q32 Divergent transcripts 1990 2017-08-03 2017-08-03 255187 ENSG00000250072 OTTHUMG00000163433 NR_122044 HGNC:52905 +HGNC:29546 SH3YL1 SH3 and SYLF domain containing 1 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "Ray|DKFZP586F1318" SH3 domain containing, Ysc84-like 1 (S. cerevisiae) 2004-01-05 2013-10-18 2016-04-25 26751 ENSG00000035115 OTTHUMG00000151359 uc061fxl.1 NM_015677 "CCDS62841|CCDS42646|CCDS54332|CCDS62842" Q96HL8 21624956 MGI:1346118 RGD:1306440 617314 HGNC:29546 "ENST00000356150.10|NM_015677.4" +HGNC:15474 SHANK1 SH3 and multiple ankyrin repeat domains 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "SSTRIP|SPANK-1|synamon" somatostatin receptor-interacting protein "Ankyrin repeat domain containing|Sterile alpha motif domain containing|PDZ domain containing" "403|760|1220" 2002-02-22 2021-05-26 50944 ENSG00000161681 OTTHUMG00000137380 uc002psx.1 AF163302 NM_016148 CCDS12799 Q9Y566 10551867 MGI:3613677 RGD:621011 604999 471050 HGNC:15474 "ENST00000293441.6|NM_016148.5" HGNC:15474 +HGNC:14295 SHANK2 SH3 and multiple ankyrin repeat domains 2 protein-coding gene gene with protein product Approved 11q13.3-q13.4 11q13.3-q13.4 "CTTNBP1|ProSAP1|SHANK|SPANK-3" CORTBP1 cortactin binding protein 1 "Ankyrin repeat domain containing|Sterile alpha motif domain containing|PDZ domain containing|MicroRNA protein coding host genes" "403|760|1220|1691" 2002-02-22 2021-11-09 22941 ENSG00000162105 OTTHUMG00000154615 uc058etp.1 AF141901 NM_012309 CCDS76448 Q9UPX8 10506216 MGI:2671987 RGD:628772 603290 391835 HGNC:14295 "ENST00000601538.6|NM_012309.5" HGNC:14295 +HGNC:40014 SHANK2-AS1 SHANK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 SHANK2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-28 2012-08-15 2014-11-19 100874198 ENSG00000226627 OTTHUMG00000154610 uc001oqe.1 NR_046567 SHANK2-AS1 HGNC:40014 +HGNC:40015 SHANK2-AS2 SHANK2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 SHANK2 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-28 2012-08-15 2014-11-18 100874199 ENSG00000236262 OTTHUMG00000152738 uc058etw.1 SHANK2-AS2 +HGNC:25098 SHANK2-AS3 SHANK2 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 C11orf76 "chromosome 11 open reading frame 76|SHANK2 antisense RNA 3 (non-protein coding)" Antisense RNAs 1987 2006-03-17 2011-04-28 2012-08-15 2014-11-19 220070 ENSG00000171671 OTTHUMG00000150217 uc009yso.5 BC004224 NR_073536 Q9BTD1 12477932 SHANK2-AS3 HGNC:25098 +HGNC:14294 SHANK3 SH3 and multiple ankyrin repeat domains 3 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "SPANK-2|prosap2|KIAA1650|PSAP2" "proline rich synapse associated protein 2|shank3 postsynaptic density protein" "Ankyrin repeat domain containing|Sterile alpha motif domain containing|PDZ domain containing" "403|760|1220" 2002-02-22 2021-05-26 85358 ENSG00000251322 OTTHUMG00000150169 uc062fon.2 AB051437 NM_001080420 Q9BYB0 "11258795|11431708|10806096|17173049" MGI:1930016 RGD:69264 606230 118697 HGNC:14294 HGNC:14294 +HGNC:25321 SHARPIN SHANK associated RH domain interactor protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "DKFZP434N1923|SIPL1" "Zinc fingers RANBP2-type |Linear ubiquitin chain assembly complex " "89|1390" 2005-08-09 2015-11-20 2016-11-01 81858 ENSG00000179526 OTTHUMG00000165243 uc003zba.4 AL136816 NM_030974 CCDS43777 Q9H0F6 "11178875|12753155" MGI:1913331 RGD:631353 611885 471052 HGNC:25321 "ENST00000398712.7|NM_030974.4" +HGNC:10838 SHB SH2 domain containing adaptor protein B protein-coding gene gene with protein product Approved 9p13.1 09p13.1 "SHB adaptor protein (a Src homology 2 protein)|SHB (Src homology 2 domain containing) adaptor protein B|Src homology 2 domain containing adaptor protein B" SH2 domain containing 741 1994-09-15 2016-04-11 2016-10-05 6461 ENSG00000107338 OTTHUMG00000019936 uc004aax.4 NM_003028 CCDS43806 Q15464 7713524 MGI:98294 RGD:1565350 600314 HGNC:10838 "ENST00000377707.4|NM_003028.3" +HGNC:10839 SHBG sex hormone binding globulin protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "ABP|TEBG|MGC126834|MGC138391" androgen binding protein sex hormone-binding globulin 1990-03-14 2016-04-04 2016-04-04 6462 ENSG00000129214 OTTHUMG00000108153 uc002gie.4 NM_001040 "CCDS73961|CCDS73962|CCDS11117|CCDS54082|CCDS54083|CCDS58513" P04278 2587256 MGI:98295 RGD:3671 182205 HGNC:10839 "ENST00000380450.9|NM_001040.5" +HGNC:10840 SHC1 SHC adaptor protein 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "p66|ShcA" SHC SHC (Src homology 2 domain-containing) transforming protein 1 SH2 domain containing 741 1993-02-17 2016-05-16 2016-10-05 6464 ENSG00000160691 OTTHUMG00000037295 uc001ffx.4 U73377 NM_183001 "CCDS1076|CCDS30881|CCDS44234|CCDS44233" P29353 1623525 MGI:98296 RGD:620446 600560 HGNC:10840 "ENST00000448116.7|NM_001130040.2" +HGNC:10841 SHC1P1 SHC adaptor protein 1 pseudogene 1 pseudogene pseudogene Approved Xq11.2 Xq11.2 SHC (Src homology 2 domain-containing) transforming protein 1 pseudogene 1 1997-05-09 2016-05-16 2016-10-05 6465 ENSG00000230889 OTTHUMG00000021706 Y09846 NG_001195 9192859 PGOHUM00000241811 HGNC:10841 +HGNC:10842 SHC1P2 SHC adaptor protein 1 pseudogene 2 pseudogene pseudogene Approved 17q21.31 17q21.31 SHCL1 SHC (Src homology 2 domain-containing) transforming protein-like 1 1994-09-15 2010-10-27 2016-05-16 2017-10-26 6466 ENSG00000267691 OTTHUMG00000181814 NG_004765 7635484 600739 PGOHUM00000294124 HGNC:10842 +HGNC:29869 SHC2 SHC adaptor protein 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "SLI|SCK|SHCB" neuronal Shc adaptor homolog SHC (Src homology 2 domain containing) transforming protein 2 SH2 domain containing 741 2004-03-18 2016-05-16 2016-05-16 25759 ENSG00000129946 OTTHUMG00000180545 uc002loq.4 AB001451 NM_001387056 CCDS45891 P98077 "7527937|9507002" MGI:106180 RGD:1307137 605217 HGNC:29869 "ENST00000264554.11|NM_012435.3" +HGNC:18181 SHC3 SHC adaptor protein 3 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 "N-Shc|NSHC|SHCC" "src homology 2 domain containing transforming protein C3|SHC (Src homology 2 domain containing) transforming protein 3" SH2 domain containing 741 2003-11-12 2016-05-16 2016-05-16 53358 ENSG00000148082 OTTHUMG00000020179 uc004aqf.2 D84361 NM_016848 CCDS6681 Q92529 8808684 MGI:106179 RGD:69348 605263 HGNC:18181 "ENST00000375835.9|NM_016848.6" +HGNC:16743 SHC4 SHC adaptor protein 4 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "RaLP|SHCD" rai-like protein SHC (Src homology 2 domain containing) family, member 4 SH2 domain containing 741 2005-11-07 2016-05-16 2016-10-05 399694 ENSG00000185634 OTTHUMG00000131513 uc001zxb.2 AY358250 NM_203349 CCDS10130 Q6S5L8 MGI:2655364 RGD:1583644 617372 HGNC:16743 "ENST00000332408.9|NM_203349.4" +HGNC:29547 SHCBP1 SHC binding and spindle associated 1 protein-coding gene gene with protein product Approved 16q11.2 16q11.2 "FLJ22009|PAL" Protein expressed in Activated Lymphocytes SHC SH2-domain binding protein 1 2004-06-22 2016-04-22 2016-10-05 79801 ENSG00000171241 OTTHUMG00000132540 uc002eec.5 AK055931 NM_024745 CCDS10720 Q8NEM2 "10086341|25486361" MGI:1338802 RGD:1590844 611027 HGNC:29547 "ENST00000303383.8|NM_024745.5" +HGNC:16788 SHCBP1L SHC binding and spindle associated 1 like protein-coding gene gene with protein product Approved 1q25.3 01q25.3 C1orf14 "chromosome 1 open reading frame 14|SHC SH2-domain binding protein 1-like" 2001-10-08 2011-01-24 2016-04-22 2016-10-05 81626 ENSG00000157060 OTTHUMG00000035419 uc001gpu.4 AF288397 NM_030933 CCDS30955 Q9BZQ2 "11318611|24557841" MGI:1919086 RGD:1305609 619514 HGNC:16788 "ENST00000367547.8|NM_030933.4" +HGNC:30633 SHD Src homology 2 domain containing transforming protein D protein-coding gene gene with protein product Approved 19p13.3 19p13.3 SH2 domain containing 741 2005-05-24 2019-08-20 56961 ENSG00000105251 OTTHUMG00000181879 uc002lzw.3 BC007206 NM_020209 CCDS12125 Q96IW2 9315092 MGI:1099461 RGD:1590885 610481 HGNC:30633 "ENST00000543264.7|NM_020209.4" +HGNC:27004 SHE Src homology 2 domain containing E protein-coding gene gene with protein product Approved 1q21.3 01q21.3 SH2 domain containing 741 2005-05-24 2015-08-25 126669 ENSG00000169291 OTTHUMG00000036072 uc001ffb.4 AK074067 NM_001010846 CCDS30877 Q5VZ18 9315092 MGI:1099462 RGD:1583215 610482 HGNC:27004 "ENST00000304760.3|NM_001010846.3" +HGNC:25116 SHF Src homology 2 domain containing F protein-coding gene gene with protein product Approved 15q21.1 15q21.1 SH2 domain containing 741 2005-05-24 2015-08-25 90525 ENSG00000138606 OTTHUMG00000131353 uc001zuy.3 BC007586 NM_138356 "CCDS76750|CCDS73721|CCDS10120|CCDS76749" Q7M4L6 11095946 MGI:3613669 RGD:1562705 617313 HGNC:25116 "ENST00000690270.1|NM_001394037.1" +HGNC:25649 SHFL shiftless antiviral inhibitor of ribosomal frameshifting protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ11286|RyDEN|IRAV|SFL" "repressor of yield of Dengue virus|interferon-regulated antiviral gene|shiftless" C19orf66 chromosome 19 open reading frame 66 2008-06-12 2019-04-18 2019-04-18 2019-04-18 55337 ENSG00000130813 OTTHUMG00000180393 uc002mmu.5 NM_018381 "CCDS45957|CCDS77231" Q9NUL5 "26735137|27974568|30682371" MGI:2441788 RGD:1565995 616808 HGNC:25649 "ENST00000253110.16|NM_018381.4" +HGNC:10848 SHH sonic hedgehog signaling molecule protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "HHG1|SMMCI|TPT|TPTPS|MCOPCB5" "HPE3|HLP3" sonic hedgehog (Drosophila) homolog Hedgehog signaling molecule family 1373 1995-03-10 2018-11-15 2021-05-26 6469 ENSG00000164690 OTTHUMG00000151349 uc003wmk.2 NM_000193 CCDS5942 Q15465 7590746 MGI:98297 RGD:3673 600725 118703 C46.002 HGNC:10848 "ENST00000297261.7|NM_000193.4" HGNC:10848 +HGNC:20366 SHISA2 shisa family member 2 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "bA398O19.2|PRO28631|WGAR9166|hShisa" "C13orf13|TMEM46" "chromosome 13 open reading frame 13|transmembrane protein 46|shisa homolog 2 (Xenopus laevis)" Shisa family members 742 2004-04-16 2008-04-01 2013-07-31 2014-11-18 387914 ENSG00000180730 OTTHUMG00000016612 uc001uqm.2 NM_001007538 CCDS31951 Q6UWI4 MGI:2444716 RGD:1561256 617324 HGNC:20366 "ENST00000319420.4|NM_001007538.2" +HGNC:25159 SHISA3 shisa family member 3 protein-coding gene gene with protein product Approved 4p13 04p13 hShisa3 shisa homolog 3 (Xenopus laevis) Shisa family members 742 2008-04-01 2013-07-31 2014-11-18 152573 ENSG00000178343 OTTHUMG00000161043 uc003gwp.3 BC012029 NM_001080505 CCDS33979 A0PJX4 MGI:3041225 RGD:1565710 617325 HGNC:25159 "ENST00000319234.5|NM_001080505.3" +HGNC:27139 SHISA4 shisa family member 4 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 hShisa4 "C1orf40|TMEM58" "chromosome 1 open reading frame 40|transmembrane protein 58|shisa homolog 4 (Xenopus laevis)" Shisa family members 742 2004-01-09 2008-04-01 2013-07-31 2014-11-18 149345 ENSG00000198892 OTTHUMG00000035807 uc001gxa.4 AY358589 NM_198149 CCDS1416 Q96DD7 12975309 MGI:1924802 RGD:1312041 617326 HGNC:27139 "ENST00000362011.7|NM_198149.3" +HGNC:30376 SHISA5 shisa family member 5 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "SCOTIN|hShisa5" shisa homolog 5 (Xenopus laevis) Shisa family members 742 2008-04-01 2013-07-31 2014-11-19 51246 ENSG00000164054 OTTHUMG00000133529 uc031rzr.2 AF520698 NM_016479 "CCDS2770|CCDS63621|CCDS63622|CCDS63623" Q8N114 "11042152|12135983" MGI:1915044 RGD:1359661 607290 HGNC:30376 "ENST00000296444.7|NM_016479.6" +HGNC:54937 SHISA5P1 SHISA5 pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-30 2020-04-30 643043 ENSG00000226641 NG_046875 +HGNC:54993 SHISA5P2 SHISA5 pseudogene 2 pseudogene pseudogene Approved Xq13.2 Xq13.2 2020-05-15 2020-05-15 101928425 ENSG00000203397 NG_046876 +HGNC:34491 SHISA6 shisa family member 6 protein-coding gene gene with protein product Approved 17p12 17p12 FLJ45455 shisa homolog 6 (Xenopus laevis) Shisa family members 742 2009-08-12 2013-07-31 2016-10-05 388336 ENSG00000188803 OTTHUMG00000154121 uc002gnc.3 "AK127379|AK128003" NM_207386 "CCDS54090|CCDS45615|CCDS54089" Q6ZSJ9 MGI:2685725 RGD:1564618 617327 HGNC:34491 "ENST00000441885.8|NM_207386.4" +HGNC:35409 SHISA7 shisa family member 7 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 shisa homolog 7 (Xenopus laevis) Shisa family members 742 2009-09-30 2013-07-31 2020-04-01 729956 ENSG00000187902 OTTHUMG00000154240 uc002qkz.4 NM_001145176 CCDS46193 A6NL88 MGI:3605641 RGD:1583944 617328 HGNC:35409 "ENST00000376325.10|NM_001145176.2" +HGNC:18351 SHISA8 shisa family member 8 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 Orf26 C22orf17 "chromosome 22 open reading frame 17|shisa homolog 8 (Xenopus laevis)" Shisa family members 742 2002-04-03 2009-09-30 2013-07-31 2014-03-31 440829 ENSG00000234965 OTTHUMG00000151273 uc021wqh.1 AI763350 NM_001207020 CCDS74872 B8ZZ34 MGI:2146080 RGD:1563996 617329 HGNC:18351 "ENST00000621082.2|NM_001207020.3" +HGNC:37231 SHISA9 shisa family member 9 protein-coding gene gene with protein product Approved 16p13.12 16p13.12 shisa homolog 9 (Xenopus laevis) Shisa family members 742 2009-10-02 2013-07-31 2016-04-25 729993 ENSG00000237515 OTTHUMG00000154258 uc010uyy.3 NM_001145204 "CCDS45418|CCDS45417" B4DS77 MGI:1919805 RGD:2320726 613346 HGNC:37231 "ENST00000558583.3|NM_001145204.3" +HGNC:29335 SHISAL1 shisa like 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 KIAA1644 KIAA1644 2009-02-06 2017-10-12 2017-10-12 2017-10-12 85352 ENSG00000138944 OTTHUMG00000030991 uc003bet.3 AB051431 NM_001099294 CCDS43025 Q3SXP7 "11258795|22120523" MGI:1919551 RGD:1566029 HGNC:29335 "ENST00000381176.5|NM_001099294.2" +HGNC:28757 SHISAL2A shisa like 2A protein-coding gene gene with protein product Approved 1p32.3 01p32.3 MGC52498 FAM159A "family with sequence similarity 159, member A|family with sequence similarity 159 member A" 2008-06-05 2017-10-12 2017-10-12 2017-11-28 348378 ENSG00000182183 OTTHUMG00000008330 uc001cuf.4 NM_001042693 CCDS41336 Q6UWV7 22120523 MGI:3651644 RGD:1593542 HGNC:28757 "ENST00000517870.2|NM_001042693.3" +HGNC:34236 SHISAL2B shisa like 2B protein-coding gene gene with protein product Approved 5q12.3 05q12.3 FAM159B "family with sequence similarity 159, member B|family with sequence similarity 159 member B" 2008-06-05 2017-10-12 2017-10-12 2018-11-19 100132916 ENSG00000145642 OTTHUMG00000162292 uc021xzg.2 NM_001164442 CCDS47220 A6NKW6 22120523 MGI:1925053 RGD:1564672 HGNC:34236 "ENST00000389074.6|NM_001164442.2" +HGNC:19214 SHKBP1 SH3KBP1 binding protein 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "PP203|Sb1" WD repeat domain containing 362 2005-01-12 2019-08-21 92799 ENSG00000160410 OTTHUMG00000182602 uc002oob.4 AF258553 NM_138392 CCDS12560 Q8TBC3 11152963 MGI:2385803 RGD:1309281 617322 HGNC:19214 "ENST00000291842.10|NM_138392.4" HGNC:19214 +HGNC:26318 SHLD1 shieldin complex subunit 1 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "FLJ25067|RINN3" C20orf196 chromosome 20 open reading frame 196 Shieldin complex 1656 2006-07-07 2018-04-23 2018-04-23 2018-07-31 149840 ENSG00000171984 OTTHUMG00000031813 uc002wmf.4 AK057796 NM_152504 "CCDS13091|CCDS77565" Q8IYI0 "29656893|30022119|30022158|30022168|30046110" MGI:1920997 RGD:1597982 618028 HGNC:26318 "ENST00000303142.11|NM_152504.4" +HGNC:28773 SHLD2 shieldin complex subunit 2 protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "MGC5560|bA163M19.1|FAM35A1|RINN2" FAM35A "family with sequence similarity 35, member A|family with sequence similarity 35 member A" Shieldin complex 1656 2004-04-16 2018-04-23 2018-04-23 2018-07-31 54537 ENSG00000122376 OTTHUMG00000018669 uc001kei.5 BC051863 NM_019054 "CCDS7383|CCDS81484" Q86V20 "27899376|29656893|30022119|30022158|30022168|30046110" MGI:1922948 RGD:1565067 618029 HGNC:28773 "ENST00000298786.5|NM_001330112.2" +HGNC:31425 SHLD2P1 shieldin complex subunit 2 pseudogene 1 pseudogene pseudogene Approved 10q11.22 10q11.22 bA38L15.1 "FAM35B|FAM35EP|FAM35BP" "family with sequence similarity 35, member B|family with sequence similarity 35, member E, pseudogene|family with sequence similarity 35, member B, pseudogene|family with sequence similarity 35 member B, pseudogene" 2004-05-27 2018-07-19 2018-07-19 2018-07-19 414241 ENSG00000165874 OTTHUMG00000018104 NR_027632 PGOHUM00000263361 HGNC:31425 +HGNC:31427 SHLD2P2 shieldin complex subunit 2 pseudogene 2 pseudogene pseudogene Approved 14q31.3 14q31.3 "FAM35AP|FAM35A2|FAM35CP" "family with sequence similarity 35, member A pseudogene|family with sequence similarity 35, member A2 (pseudogene)|family with sequence similarity 35, member C, pseudogene|family with sequence similarity 35 member C, pseudogene" 2004-04-16 2018-07-19 2018-07-19 2018-07-19 100128781 ENSG00000259096 OTTHUMG00000170727 NG_008816 PGOHUM00000267700 HGNC:31427 +HGNC:34038 SHLD2P3 shieldin complex subunit 2 pseudogene 3 pseudogene pseudogene Approved 10q11.22 10q11.22 "FAM35B2|FAM35DP" "family with sequence similarity 35, member B2|family with sequence similarity 35, member B2 (pseudogene)|family with sequence similarity 35, member D, pseudogene|family with sequence similarity 35 member D, pseudogene" 2008-03-28 2018-07-19 2018-07-19 2018-07-19 439965 ENSG00000189014 OTTHUMG00000018121 NR_027634.1 PGOHUM00000238772 HGNC:34038 +HGNC:53826 SHLD3 shieldin complex subunit 3 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "AC008560.1|FLJ26957|CTC-534A2.2|RINN1" Shieldin complex 1656 2018-04-23 2019-12-06 112441434 ENSG00000253251 OTTHUMG00000162694 NM_001365341 Q6ZNX1 "29656893|30022119|30022158|30022168|30046110" MGI:6194609 618030 HGNC:53826 "ENST00000510585.3|NM_001365341.2" +HGNC:10850 SHMT1 serine hydroxymethyltransferase 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "CSHMT|SHMT|MGC15229|MGC24556" "cytoplasmic serine hydroxymethyltransferase|14 kDa protein" serine hydroxymethyltransferase 1 (soluble) MicroRNA protein coding host genes 1691 1993-07-12 2016-04-04 2016-04-04 6470 ENSG00000176974 OTTHUMG00000059094 uc002gta.5 NM_004169 "CCDS62112|CCDS11196|CCDS11197" P34896 8505317 MGI:98299 RGD:1312011 182144 471054 2.1.2.1 HGNC:10850 "ENST00000316694.8|NM_004169.5" +HGNC:10851 SHMT1P1 serine hydroxymethyltransferase 1 (soluble) pseudogene 1 pseudogene pseudogene Approved 1p34.1 01p34.1 SHMT1P serine hydroxymethyltransferase 1 (soluble) pseudogene 1997-07-01 2010-04-22 2010-04-22 2016-10-05 6471 ENSG00000224751 OTTHUMG00000007558 X85980 NG_002289 8786078 PGOHUM00000243989 HGNC:10851 +HGNC:10852 SHMT2 serine hydroxymethyltransferase 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 SHMT serine hydroxymethyltransferase 2 (mitochondrial) 1986-01-01 2016-03-11 2019-08-20 6472 ENSG00000182199 OTTHUMG00000171246 uc001snf.3 AK223555 NM_005412 "CCDS55837|CCDS8934|CCDS53805" P34897 8999870 MGI:1277989 RGD:1308582 138450 2.1.2.1 HGNC:10852 "ENST00000328923.8|NM_005412.6" HGNC:10852 +HGNC:26535 SHOC1 shortage in chiasmata 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "FLJ32779|Zip2|MZIP2" C9orf84 chromosome 9 open reading frame 84 2004-01-29 2018-10-12 2018-10-12 2019-08-28 158401 ENSG00000165181 OTTHUMG00000020495 uc004bfr.5 AL833535 NM_173521 "CCDS43863|CCDS6781" Q5VXU9 "21771883|29742103" MGI:2140313 RGD:1586646 618038 HGNC:26535 "ENST00000682961.1|NM_001378211.1" HGNC:26535 +HGNC:15454 SHOC2 SHOC2 leucine rich repeat scaffold protein protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "KIAA0862|SOC2|SUR-8|SOC-2|SUR8" "soc-2 (suppressor of clear, C.elegans) homolog|soc-2 suppressor of clear homolog (C. elegans)|SHOC2 leucine-rich repeat scaffold protein|SHOC2, leucine rich repeat scaffold protein" MicroRNA protein coding host genes 1691 2001-03-30 2019-01-22 2021-05-26 8036 ENSG00000108061 OTTHUMG00000019047 uc001kzl.5 AB020669 NM_007373 "CCDS7568|CCDS58095" Q9UQ13 "9618511|9674433|10783161" MGI:1927197 RGD:1308146 LRG_753|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_753.xml 602775 220877 HGNC:15454 "ENST00000369452.9|NM_007373.4" HGNC:15454 +HGNC:10853 SHOX short stature homeobox protein-coding gene gene with protein product Approved Xp22.33 and Yp11.32 Xp22.33 and Yp11.32 "PHOG|GCFX|SS|SHOXY" "PRD class homeoboxes and pseudogenes|Pseudoautosomal region 1" "521|715" 1998-06-05 2021-04-13 6473 ENSG00000185960 OTTHUMG00000021053 uc004fou.1 U82668 NM_000451 "CCDS14106|CCDS14107" O15266 "9259282|9140395" RGD:1586239 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SHOX|University of Heidelberg|http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/home.php?select_db=SHOX|LRG_710|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_710.xml" "312865|400020" 8626 118707 HGNC:10853 "ENST00000686671.1|NM_000451.4" HGNC:10853 +HGNC:10854 SHOX2 short stature homeobox 2 protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "SHOT|OG12X|OG12" PRD class homeoboxes and pseudogenes 521 1998-06-05 2016-04-25 6474 ENSG00000168779 OTTHUMG00000158755 uc003fbs.4 AJ002368 NM_001163678 "CCDS54664|CCDS43164|CCDS33884" O60902 "9482898|9466998" MGI:1201673 RGD:3674 602504 8510 471056 HGNC:10854 "ENST00000483851.7|NM_001163678.2" HGNC:10854 +HGNC:1492 SHPK sedoheptulokinase protein-coding gene gene with protein product Approved 17p13.2 17p13.2 SHK CARKL carbohydrate kinase-like 1999-06-22 2008-02-08 2008-02-08 2020-09-17 23729 ENSG00000197417 OTTHUMG00000090694 uc002fvz.1 AF163573 NM_013276 CCDS11030 Q9UHJ6 "10673275|18186520" MGI:1921887 RGD:1308004 605060 444924 2.7.1.14 HGNC:1492 "ENST00000225519.5|NM_013276.4" HGNC:1492 +HGNC:19336 SHPRH SNF2 histone linker PHD RING helicase protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "FLJ90837|KIAA2023|bA545I5.2" SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase "Ring finger proteins|PHD finger proteins" "58|88" 2002-11-26 2016-03-11 2016-10-05 257218 ENSG00000146414 OTTHUMG00000015750 uc063sbq.1 AB095943 NM_173082 "CCDS47496|CCDS43513" Q149N8 12837266 MGI:1917581 RGD:1310342 608048 HGNC:19336 "ENST00000275233.12|NM_001042683.3" +HGNC:25543 SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor protein-coding gene gene with protein product Approved 3p13 03p13 "FLJ10539|Shq1p" SHQ1 homolog (S. cerevisiae) 2005-02-08 2013-01-08 2019-03-19 55164 ENSG00000144736 OTTHUMG00000158814 uc003dpf.4 BC025270 NM_018130 CCDS33788 Q6PI26 "19383767|25553844" MGI:1919421 RGD:1310610 613663 HGNC:25543 "ENST00000325599.13|NM_018130.3" +HGNC:45013 SHQ1P1 SHQ1, H/ACA ribonucleoprotein assembly factor pseudogene 1 pseudogene pseudogene Approved 10q11.23 10q11.23 2013-01-08 2016-08-17 644451 ENSG00000231588 OTTHUMG00000018229 NG_022146 PGOHUM00000289863 HGNC:45013 +HGNC:24084 SHROOM1 shroom family member 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "APXL2|KIAA1960" Shroom family 1971 2006-07-20 2014-11-18 134549 ENSG00000164403 OTTHUMG00000059835 uc003kxy.3 AF314142 NM_133456 "CCDS4161|CCDS54902" Q2M3G4 "11853319|16615870" MGI:1919024 RGD:1308066 611179 HGNC:24084 "ENST00000378679.8|NM_001172700.2" +HGNC:630 SHROOM2 shroom family member 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 APXL "apical protein, Xenopus laevis-like|apical protein-like (Xenopus laevis)" "PDZ domain containing|Shroom family" "1220|1971" 1995-06-13 2006-07-20 2006-07-20 2020-09-17 357 ENSG00000146950 OTTHUMG00000021121 uc004csu.2 X83543 NM_001649 "CCDS14135|CCDS83453" Q13796 "7795590|16615870" MGI:107194 RGD:1565163 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SHROOM2 300103 HGNC:630 "ENST00000380913.8|NM_001649.4" +HGNC:631 SHROOM2P1 shroom family member 2 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 APXLP "apical protein, Xenopus laevis-like, pseudogene|apical protein-like (Xenopus laevis) pseudogene" 1999-05-17 2010-05-05 2010-05-05 2016-10-05 10031 ENSG00000226863 OTTHUMG00000036466 AC004617 NG_002803 PGOHUM00000233957 HGNC:631 +HGNC:30422 SHROOM3 shroom family member 3 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "ShrmL|SHRM|KIAA1481|APXL3" "PDZ domain containing|MicroRNA protein coding host genes|Shroom family" "1220|1691|1971" 2006-07-20 2021-05-26 57619 ENSG00000138771 OTTHUMG00000157075 uc011cbx.3 AB055660 NM_020859 CCDS3579 Q8TF72 "10589677|16615870" MGI:1351655 RGD:1310470 604570 471058 HGNC:30422 "ENST00000296043.7|NM_020859.4" +HGNC:41265 SHROOM3-AS1 SHROOM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.1 04q21.1 Antisense RNAs 1987 2020-03-20 2020-03-20 105377289 ENSG00000233860 OTTHUMG00000157074 XR_938903 +HGNC:29215 SHROOM4 shroom family member 4 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 KIAA1202 "PDZ domain containing|Shroom family" "1220|1971" 2006-07-20 2020-04-02 57477 ENSG00000158352 OTTHUMG00000021521 uc064zgo.1 AB033028 NM_020717 CCDS35277 Q9ULL8 "10574462|16615870" MGI:2685570 RGD:1563434 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SHROOM4 300579 118713 HGNC:29215 "ENST00000376020.9|NM_020717.5" HGNC:29215 +HGNC:29319 SHTN1 shootin 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "shootin1|shootin-1" KIAA1598 KIAA1598 2004-03-16 2015-05-22 2015-05-22 2016-10-05 57698 ENSG00000187164 OTTHUMG00000019114 BC022348 NM_018330 "CCDS58097|CCDS73207|CCDS44482|CCDS31293|CCDS73208" A0MZ66 "10997877|17030985" MGI:1918903 RGD:1311558 611171 HGNC:29319 "ENST00000355371.9|NM_001127211.3" +HGNC:10856 SI sucrase-isomaltase protein-coding gene gene with protein product Approved 3q26.1 03q26.1 "Oligosaccharide alpha-1,6-glucosidase|Oligo-1,6-glucosidase|alpha-glucosidase|Alpha-methylglucosidase" sucrase-isomaltase (alpha-glucosidase) Glycoside hydrolase family 31 1413 1986-01-01 2016-04-05 2018-07-10 6476 ENSG00000090402 OTTHUMG00000158065 uc003fei.3 X63597 NM_001041 CCDS3196 P14410 "2962903|1353958" MGI:1917233 RGD:3675 609845 118716 "3.2.1.10|3.2.1.48" HGNC:10856 "ENST00000264382.8|NM_001041.4" HGNC:10856 +HGNC:18187 SIAE sialic acid acetylesterase protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "CSE-C|MGC87009|LSE" sialic acid-specific acetylesterase II YSG2 Ysg2 homolog (mouse) 2005-09-13 2005-12-15 2005-12-15 2020-04-01 54414 ENSG00000110013 OTTHUMG00000165926 uc001qan.4 AF300796 NM_170601 "CCDS8449|CCDS55795" Q9HAT2 10464298 MGI:104803 RGD:1310431 610079 HGNC:18187 "ENST00000263593.8|NM_170601.5" HGNC:18187 +HGNC:10857 SIAH1 siah E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 hSIAH1 seven in absentia homolog 1 (Drosophila) Ring finger proteins 58 1997-09-12 2012-02-23 2015-09-08 6477 ENSG00000196470 OTTHUMG00000175417 uc002efo.3 U76247 NM_001006610 "CCDS10735|CCDS32444" Q8IUQ4 "9403064|9334332" MGI:108064 RGD:620449 602212 HGNC:10857 "ENST00000394725.3|NM_003031.4" HGNC:10857 +HGNC:30966 SIAH1P1 siah E3 ubiquitin protein ligase 1 pseudogene 1 pseudogene pseudogene Approved Xp21.1 Xp21.1 SIAH1L "seven in absentia homolog 1-like (Drosophila)|seven in absentia homolog 1 (Drosophila)-like|seven in absentia homolog 1 (Drosophila) pseudogene 1" 2008-10-31 2010-12-20 2012-02-23 2020-04-02 340571 ENSG00000230227 OTTHUMG00000021347 NG_011405 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SIAH1L PGOHUM00000241698 HGNC:30966 +HGNC:10858 SIAH2 siah E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "seven in absentia (Drosophila) homolog 2|seven in absentia homolog 2 (Drosophila)" Ring finger proteins 58 1997-09-12 2012-02-23 2016-10-05 6478 ENSG00000181788 OTTHUMG00000159847 uc003eyi.4 U76248 NM_005067 CCDS3152 O43255 9334332 MGI:108062 RGD:620778 602213 6.3.2.1 HGNC:10858 "ENST00000312960.4|NM_005067.7" +HGNC:40526 SIAH2-AS1 SIAH2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 SIAH2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 105374155 ENSG00000244265 OTTHUMG00000159851 uc062pbb.1 XR_007096129 SIAH2-AS1 +HGNC:30553 SIAH3 siah E3 ubiquitin protein ligase family member 3 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 FLJ39203 seven in absentia homolog 3 (Drosophila) 2008-12-05 2012-02-23 2019-03-19 283514 ENSG00000215475 OTTHUMG00000016862 uc001vap.4 NM_198849 CCDS41883 Q8IW03 28784114 MGI:2685758 RGD:1592168 615609 HGNC:30553 "ENST00000400405.4|NM_198849.3" +HGNC:25967 SIDT1 SID1 transmembrane family member 1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "FLJ20174|SID-1" SID1 transmembrane family, member 1 MicroRNA protein coding host genes 1691 2004-08-20 2015-11-18 2016-10-05 54847 ENSG00000072858 OTTHUMG00000159299 uc003eak.4 AK000181 NM_017699 "CCDS2974|CCDS77790" Q9NXL6 MGI:2443155 RGD:1559616 606816 HGNC:25967 "ENST00000264852.9|NM_017699.3" +HGNC:41126 SIDT1-AS1 SIDT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 SIDT1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874030 ENSG00000239453 OTTHUMG00000150326 uc062mob.1 SIDT1-AS1 +HGNC:24272 SIDT2 SID1 transmembrane family member 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 CGI-40 SID1 transmembrane family, member 2 2004-08-20 2015-11-18 2020-06-09 51092 ENSG00000149577 OTTHUMG00000167065 uc001pqh.2 AF151799 NM_001040455 CCDS31682 Q8NBJ9 "10810093|12975309" MGI:2446134 RGD:1308311 617551 HGNC:24272 "ENST00000324225.9|NM_001040455.2" +HGNC:30575 SIGIRR single Ig and TIR domain containing protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "TIR8|IL-1R8" single immunoglobulin domain IL1R1 related single immunoglobulin and toll-interleukin 1 receptor (TIR) domain "Immunoglobulin like domain containing|TIR domain containing" "594|1296" 2005-10-10 2016-06-17 2020-04-01 59307 ENSG00000185187 OTTHUMG00000165412 uc001lpe.1 NM_021805 CCDS31325 Q6IA17 10346978 MGI:1344402 RGD:1306732 605478 objectId:2969 HGNC:30575 "ENST00000431843.7|NM_001135054.2" +HGNC:11127 SIGLEC1 sialic acid binding Ig like lectin 1 protein-coding gene gene with protein product Approved 20p13 20p13 "SIGLEC-1|CD169|FLJ00051|FLJ00055|FLJ00073|FLJ32150|dJ1009E24.1|sialoadhesin" SN "sialoadhesin|sialic acid binding Ig-like lectin 1, sialoadhesin" "CD molecules|V-set domain containing|C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "471|590|592|593|745" 1995-03-15 2006-01-19 2016-01-20 2020-06-25 6614 ENSG00000088827 OTTHUMG00000031757 uc002wja.3 AF230073 NM_023068 CCDS13060 Q9BZZ2 8530048 MGI:1921304 RGD:1311953 600751 CD169 HGNC:11127 "ENST00000344754.6|NM_023068.4" +HGNC:10874 SIGLEC5 sialic acid binding Ig like lectin 5 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "OB-BP2|SIGLEC-5|CD170" CD33L2 sialic acid binding Ig-like lectin 5 "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 1998-12-16 2016-01-20 2016-01-20 8778 ENSG00000105501 OTTHUMG00000165510 uc061byd.1 U71383 NM_003830 CCDS33088 O15389 10343116 MGI:2681107 604200 471060 CD170 HGNC:10874 "ENST00000683636.1|NM_003830.4" +HGNC:10875 SIGLEC6 sialic acid binding Ig like lectin 6 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "OB-BP1|SIGLEC-6|CD327" "CD33L|CD33L1" sialic acid binding Ig-like lectin 6 "CD molecules|V-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "471|590|593|745" 1996-12-17 2016-01-20 2016-10-05 946 ENSG00000105492 OTTHUMG00000133571 uc002pwy.4 D86358 NM_001245 "CCDS12834|CCDS12836|CCDS54307|CCDS54308|CCDS12835|CCDS59417" O43699 9465907 MGI:2681107 RGD:1305432 604405 CDw327 HGNC:10875 "ENST00000425629.8|NM_001245.7" +HGNC:10876 SIGLEC7 sialic acid binding Ig like lectin 7 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SIGLEC-7|p75/AIRM1|QA79|CD328" "SIGLEC19P|SIGLECP2" "sialic acid binding Ig-like lectin 19, pseudogene|sialic acid binding Ig-like lectin, pseudogene 2|sialic acid binding Ig-like lectin 7" "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 2000-01-26 2016-01-20 2016-01-20 27036 ENSG00000168995 OTTHUMG00000182895 uc002pvv.1 AF170485 NM_016543 "CCDS12826|CCDS62771|CCDS42601" Q9Y286 10567377 MGI:1932475 604410 CDw328 HGNC:10876 "ENST00000317643.10|NM_014385.4" +HGNC:10877 SIGLEC8 sialic acid binding Ig like lectin 8 protein-coding gene gene with protein product Approved 19q13.33-q13.41 19q13.33-q13.41 "SIGLEC-8|SAF2|SIGLEC8L|MGC59785" sialic acid binding Ig-like lectin 8 "V-set domain containing|Sialic acid binding Ig like lectins" "590|745" 2000-01-26 2016-01-20 2016-01-20 27181 ENSG00000105366 OTTHUMG00000182776 uc002pwt.3 AF195092 NM_014442 "CCDS86797|CCDS33086" Q9NYZ4 10625619 MGI:1932475 RGD:1563073 605639 objectId:3012 HGNC:10877 "ENST00000321424.7|NM_014442.3" +HGNC:10878 SIGLEC9 sialic acid binding Ig like lectin 9 protein-coding gene gene with protein product Approved 19q13.3-q13.4 19q13.3-q13.4 CD329 sialic acid binding Ig-like lectin 9 "CD molecules|V-set domain containing|Sialic acid binding Ig like lectins" "471|590|745" 2000-03-29 2016-01-20 2016-01-20 27180 ENSG00000129450 OTTHUMG00000182894 uc002pvu.4 AF135027 NM_014441 "CCDS12825|CCDS56100" Q9Y336 10903842 MGI:1932475 605640 CDw329 HGNC:10878 "ENST00000250360.8|NM_014441.3" +HGNC:15620 SIGLEC10 sialic acid binding Ig like lectin 10 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SIGLEC-10|SLG2|PRO940|MGC126774" "sialic acid binding Ig-like lectin 10 Ig-like lectin 7|siglec-like gene 2" sialic acid binding Ig-like lectin 10 "V-set domain containing|C2-set domain containing|Sialic acid binding Ig like lectins" "590|592|745" 2001-06-29 2016-01-20 2016-10-05 89790 ENSG00000142512 OTTHUMG00000165521 uc002pwo.4 AF310233 NM_033130 "CCDS54305|CCDS54303|CCDS12832|CCDS54304|CCDS54302|CCDS54301|CCDS82384" Q96LC7 11284738 MGI:2443630 RGD:1307441 606091 objectId:3169 HGNC:15620 "ENST00000339313.10|NM_033130.5" +HGNC:40719 SIGLEC10-AS1 SIGLEC10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2020-03-20 2020-03-20 100129083 ENSG00000255441 OTTHUMG00000165523 NR_164124 +HGNC:15622 SIGLEC11 sialic acid binding Ig like lectin 11 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 sialic acid binding Ig-like lectin 11 "V-set domain containing|C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "590|592|593|745" 2001-08-28 2016-01-20 2016-10-05 114132 ENSG00000161640 OTTHUMG00000157077 uc010ybh.3 AF337818 NM_052884 "CCDS12790|CCDS46150" Q96RL6 11986327 MGI:2443630 607157 HGNC:15622 "ENST00000447370.6|NM_052884.3" +HGNC:15482 SIGLEC12 sialic acid binding Ig like lectin 12 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "SLG|S2V|Siglec-XII|Siglec-12|Siglec-L1" SIGLECL1 "SIGLEC-like 1|sialic acid binding Ig-like lectin 12|sialic acid binding Ig-like lectin 12 (gene/pseudogene)|sialic acid binding Ig like lectin 12 (gene/pseudogene)" "V-set domain containing|C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "590|592|593|745" 2001-08-28 2004-10-20 2020-05-01 2020-05-01 89858 ENSG00000254521 OTTHUMG00000165524 uc002pwx.3 AF282256 NM_053003 "CCDS59416|CCDS12833" Q96PQ1 "11409877|11328818|21555517" MGI:1932475 606094 HGNC:15482 "ENST00000291707.8|NM_053003.4" +HGNC:32926 SIGLEC14 sialic acid binding Ig like lectin 14 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 sialic acid binding Ig-like lectin 14 "V-set domain containing|Sialic acid binding Ig like lectins" "590|745" 2007-05-31 2016-01-20 2016-01-20 100049587 ENSG00000254415 OTTHUMG00000165511 uc002pxf.5 AY854038 NM_001098612 CCDS42604 Q08ET2 17012248 MGI:2681107 618132 HGNC:32926 "ENST00000360844.7|NM_001098612.3" +HGNC:27596 SIGLEC15 sialic acid binding Ig like lectin 15 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 HsT1361 CD33L3 "CD33 antigen-like 3|CD33 molecule-like 3|sialic acid binding Ig-like lectin 15" "V-set domain containing|Sialic acid binding Ig like lectins" "590|745" 2004-01-16 2007-05-31 2016-01-20 2016-01-20 284266 ENSG00000197046 OTTHUMG00000170870 uc002lbl.2 AK095432 NM_213602 CCDS32819 Q6ZMC9 17483134 MGI:3646642 RGD:1565948 618105 HGNC:27596 "ENST00000389474.8|NM_213602.3" +HGNC:24851 SIGLEC16 sialic acid binding Ig like lectin 16 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Siglec-P16 SIGLECP16 "sialic acid binding Ig-like lectin, pseudogene 16|sialic acid binding Ig-like lectin 16 (gene/pseudogene)|sialic acid binding Ig like lectin 16 (gene/pseudogene)" "V-set domain containing|C2-set domain containing|I-set domain containing|Sialic acid binding Ig like lectins" "590|592|593|745" 2004-10-20 2008-08-04 2020-05-01 2021-10-06 400709 ENSG00000161643 OTTHUMG00000183074 BC030222 NM_001348364 A6NMB1 "11986327|18629938" MGI:2443630 PGOHUM00000263714 HGNC:24851 +HGNC:15604 SIGLEC17P sialic acid binding Ig like lectin 17, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP3 "sialic acid binding Ig-like lectin, pseudogene 3|sialic acid binding Ig-like lectin 17, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2012-04-30 2016-01-20 2016-01-20 284367 ENSG00000171101 OTTHUMG00000182974 AF161341 NR_002804 PGOHUM00000263717 HGNC:15604 +HGNC:15491 SIGLEC18P sialic acid binding Ig like lectin 18, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP1 "sialic acid binding Ig-like lectin, pseudogene 1|SIGLEC18P, sialic acid binding Ig-like lectin 18, pseudogene|sialic acid binding Ig-like lectin 18, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-07-26 114184 ENSG00000268581 OTTHUMG00000183140 AC011473 NG_004728 11546777 HGNC:15491 +HGNC:15609 SIGLEC20P sialic acid binding Ig like lectin 20, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP4 "sialic acid binding Ig-like lectin, pseudogene 4|sialic acid binding Ig-like lectin 20, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-07-26 114192 ENSG00000268336 OTTHUMG00000183130 AY040544 NG_004735 11546777 PGOHUM00000295409 HGNC:15609 +HGNC:15610 SIGLEC21P sialic acid binding Ig like lectin 21, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP5 "sialic acid binding Ig-like lectin, pseudogene 5|sialic acid binding Ig-like lectin 21, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-07-26 114194 ENSG00000269253 OTTHUMG00000183131 NG_004736 11546777 PGOHUM00000295410 HGNC:15610 +HGNC:15611 SIGLEC22P sialic acid binding Ig like lectin 22, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP6 "sialic acid binding Ig-like lectin, pseudogene 6|sialic acid binding Ig-like lectin 22, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-01-20 114195 ENSG00000268849 OTTHUMG00000183132 NG_004737 11546777 PGOHUM00000234742 HGNC:15611 +HGNC:15613 SIGLEC24P sialic acid binding Ig like lectin 24, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP8 "sialic acid binding Ig-like lectin, pseudogene 8|sialic acid binding Ig-like lectin 24, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2020-04-07 114196 ENSG00000269021 NG_004738 11546777 HGNC:15613 +HGNC:15614 SIGLEC25P sialic acid binding Ig like lectin 25, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP9 "sialic acid binding Ig-like lectin, pseudogene 9|sialic acid binding Ig-like lectin 25, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-01-20 114198 NG_004740 11546777 HGNC:15614 +HGNC:15615 SIGLEC26P sialic acid binding Ig like lectin 26, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP10 "sialic acid binding Ig-like lectin, pseudogene 10|sialic acid binding Ig-like lectin 26, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-01-20 114185 OTTHUMG00000185923 AC008750 NG_004729 11546777 HGNC:15615 +HGNC:15617 SIGLEC27P sialic acid binding Ig like lectin 27, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP11 "sialic acid binding Ig-like lectin, pseudogene 11|sialic acid binding Ig-like lectin 27, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2017-10-25 114186 ENSG00000269580 OTTHUMG00000183494 NG_004730 11546777 PGOHUM00000295415 HGNC:15617 +HGNC:15618 SIGLEC28P sialic acid binding Ig like lectin 28, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP12 "sialic acid binding Ig-like lectin, pseudogene 12|sialic acid binding Ig-like lectin 28, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-01-20 114187 OTTHUMG00000183513 NG_004731 11546777 HGNC:15618 +HGNC:15619 SIGLEC29P sialic acid binding Ig like lectin 29, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 SIGLECP13 "sialic acid binding Ig-like lectin, pseudogene 13|sialic acid binding Ig-like lectin 29, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-07-26 114188 ENSG00000268267 OTTHUMG00000183514 NG_004732 11546777 PGOHUM00000295078 HGNC:15619 +HGNC:15623 SIGLEC30P sialic acid binding Ig like lectin 30, pseudogene pseudogene pseudogene Approved 1q24.2 01q24.2 SIGLECP14 "sialic acid binding Ig-like lectin, pseudogene 14|sialic acid binding Ig-like lectin 30, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-01-20 114190 ENSG00000224896 OTTHUMG00000035957 AL162428 NG_004734 11546777 HGNC:15623 +HGNC:16072 SIGLEC31P sialic acid binding Ig like lectin 31, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 SIGLECP15 "sialic acid binding Ig-like lectin, pseudogene 15|sialic acid binding Ig-like lectin 31, pseudogene" Sialic acid binding Ig like lectins 745 2001-08-28 2010-02-04 2016-01-20 2016-07-26 114189 ENSG00000268847 OTTHUMG00000182191 NG_004733 11546777 HGNC:16072 +HGNC:26856 SIGLECL1 SIGLEC family like 1 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ40235 "C19orf75|SIGLEC23P|SIGLECP7" "chromosome 19 open reading frame 75|sialic acid binding Ig-like lectin 23, pseudogene|sialic acid binding Ig-like lectin, pseudogene 7" Ig-like cell adhesion molecule family 1410 2009-07-20 2012-07-20 2012-07-20 2016-10-05 284369 ENSG00000179213 OTTHUMG00000182881 uc002pwb.2 AK097554 NM_173635 "CCDS12827|CCDS77341" Q8N7X8 MGI:1921304 RGD:2324488 HGNC:26856 "ENST00000601727.6|NM_001385465.1" +HGNC:8157 SIGMAR1 sigma non-opioid intracellular receptor 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 SR-BP1 OPRS1 opioid receptor, sigma 1 1993-03-11 2008-12-18 2008-12-18 2014-11-19 10280 ENSG00000147955 OTTHUMG00000019829 uc003zvb.5 BC004899 NM_005866 "CCDS6562|CCDS6563" Q99720 "8954936|9453537" MGI:1195268 RGD:68364 601978 291509 objectId:2552 HGNC:8157 "ENST00000277010.9|NM_005866.4" HGNC:8157 +HGNC:11142 SIK1 salt inducible kinase 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 msk myocardial SNF1-like kinase SNF1LK SNF1-like kinase 2000-05-23 2008-12-23 2015-11-23 2015-11-23 150094 ENSG00000142178 OTTHUMG00000086874 uc002zdf.4 BC038504 NM_173354 CCDS33575 P57059 7893599 MGI:104754 RGD:69407 605705 426073 objectId:2197 HGNC:11142 "ENST00000270162.8|NM_173354.5" HGNC:11142 +HGNC:21680 SIK2 salt inducible kinase 2 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "KIAA0781|QIK|DKFZp434K1115|LOH11CR1I" SNF1LK2 SNF1-like kinase 2 2005-01-21 2008-12-23 2015-11-23 2015-11-23 23235 ENSG00000170145 OTTHUMG00000150644 uc001plt.4 AB018324 NM_015191 CCDS8347 Q9H0K1 15067358 MGI:2445031 RGD:1559698 608973 objectId:2198 HGNC:21680 "ENST00000304987.4|NM_015191.3" +HGNC:29165 SIK3 SIK family kinase 3 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "FLJ12240|L19|KIAA0999|QSK" 2009-09-04 2016-04-25 23387 ENSG00000160584 OTTHUMG00000066628 uc001ppy.5 AB023216 NM_025164 "CCDS8379|CCDS60974" Q9Y2K2 "10231032|8889548" MGI:2446296 RGD:1593938 614776 objectId:2199 HGNC:29165 "ENST00000445177.6|NM_001366686.3" +HGNC:41495 SIK3-IT1 SIK3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 SIK3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2012-01-20 2015-02-25 2015-02-25 100874315 ENSG00000231865 OTTHUMG00000066638 NR_046846 SIK3-IT1 +HGNC:26119 SIKE1 suppressor of IKBKE 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ21168|SIKE" suppressor of IKK epsilon STRIPAK complex 1371 2009-08-06 2020-01-20 80143 ENSG00000052723 OTTHUMG00000012061 uc001efo.5 AK024821 NM_025073 "CCDS41371|CCDS878" Q9BRV8 16281057 MGI:1913891 RGD:1311316 611656 HGNC:26119 "ENST00000060969.6|NM_025073.3" +HGNC:24624 SIL1 SIL1 nucleotide exchange factor protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "BAP|ULG5" MSS "Marinesco-Sjogren syndrome|SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)" Armadillo like helical domain containing 1492 2005-09-01 2013-08-21 2016-10-05 64374 ENSG00000120725 OTTHUMG00000129226 uc003ldp.4 AK075177 NM_022464 CCDS4209 Q9H173 "11101517|12356756|16282977" MGI:1932040 RGD:735103 608005 118718 HGNC:24624 "ENST00000394817.7|NM_022464.5" HGNC:24624 +HGNC:26403 SILC1 sciatic injury induced lincRNA upregulator of SOX11 non-coding RNA RNA, long non-coding Approved 2p25.2 02p25.2 "FLJ30594|LOC150622" LINC01105 long intergenic non-protein coding RNA 1105 Long non-coding RNAs with non-systematic symbols 1992 2013-10-10 2018-11-14 2018-11-14 2019-06-21 150622 ENSG00000232044 OTTHUMG00000151462 NR_026832 "25392693|27824082|30401432" MGI:3643118 LINC01105 HGNC:26403 +HGNC:10882 SIM1 SIM bHLH transcription factor 1 protein-coding gene gene with protein product Approved 6q16.3 06q16.3 bHLHe14 "single-minded (Drosophila) homolog 1|single-minded homolog 1 (Drosophila)|single-minded family bHLH transcription factor 1" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1997-07-22 2018-04-20 2021-05-26 6492 ENSG00000112246 OTTHUMG00000015275 uc063qgu.1 U70212 NM_005068 CCDS5045 P81133 "9199934|11448938" MGI:98306 RGD:1309949 603128 158398 HGNC:10882 "ENST00000369208.8|NM_005068.3" HGNC:10882 +HGNC:40530 SIM1-AS1 SIM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q16.3 06q16.3 Antisense RNAs 1987 2020-03-26 2020-03-26 102724406 ENSG00000228082 OTTHUMG00000015276 XR_942815 +HGNC:10883 SIM2 SIM bHLH transcription factor 2 protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "MGC119447|bHLHe15" transcription factor SIM2 SIM "single-minded (Drosophila) homolog 2|single-minded homolog 2 (Drosophila)|single-minded family bHLH transcription factor 2" "Basic helix-loop-helix proteins|PAS domain containing" "420|2127" 1995-10-02 2018-04-20 2018-04-20 6493 ENSG00000159263 OTTHUMG00000086637 uc002yvr.3 NM_009586 CCDS13646 Q14190 7485157 MGI:98307 RGD:1308016 600892 HGNC:10883 "ENST00000290399.11|NM_005069.6" +HGNC:24779 SIMC1 SUMO interacting motifs containing 1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "FLJ44216|OOMA1|PLEIAD" "oocyte maturation associated 1|platform element for inhibition of autolytic degradation" C5orf25 "chromosome 5 open reading frame 25|SUMO-interacting motifs containing 1" 2006-04-10 2012-11-14 2016-01-28 2016-01-28 375484 ENSG00000170085 OTTHUMG00000130663 uc003mdr.4 BC037298 NM_198567 "CCDS78088|CCDS78090|CCDS78089|CCDS4398" Q8NDZ2 "23086935|23707407" MGI:2442599 RGD:2319689 618102 HGNC:24779 "ENST00000429602.7|NM_001308195.2" +HGNC:19353 SIN3A SIN3 transcription regulator family member A protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "KIAA0700|DKFZP434K2235" "SIN3 homolog A, transcription regulator (yeast)|SIN3 transcription regulator homolog A (yeast)" "EMSY complex|SIN3 histone deacetylase complex subunits" "1243|1306" 2002-10-09 2013-08-21 2021-05-26 25942 ENSG00000169375 OTTHUMG00000142834 uc010uml.3 AK027559 NM_015477 CCDS10279 Q96ST3 "10773092|7601471" MGI:107157 RGD:1311598 607776 471062 HGNC:19353 "ENST00000394947.8|NM_001145358.2" HGNC:19353 +HGNC:19354 SIN3B SIN3 transcription regulator family member B protein-coding gene gene with protein product Approved 19p13.11 19p13.11 KIAA0700 "SIN3 homolog B, transcription regulator (yeast)|SIN3 transcription regulator homolog B (yeast)" "EMSY complex|SIN3 histone deacetylase complex subunits" "1243|1306" 2002-10-09 2013-08-21 2020-04-01 23309 ENSG00000127511 OTTHUMG00000182642 uc002nez.3 AB014600 NM_015260 "CCDS74308|CCDS77254|CCDS32946" O75182 9734811 MGI:107158 RGD:1587989 607777 HGNC:19354 "ENST00000248054.10|NM_001297595.2" HGNC:19354 +HGNC:30702 SINHCAF SIN3-HDAC complex associated factor protein-coding gene gene with protein product Approved 12p11.21 12p11.21 TERA "C12orf14|FAM60A" "chromosome 12 open reading frame 14|family with sequence similarity 60, member A" 2004-01-20 2017-07-14 2017-07-14 2017-07-14 58516 ENSG00000139146 OTTHUMG00000168586 uc001rke.4 AF212220 NM_021238 CCDS8723 Q9NP50 "11042152|22984288|22865885" MGI:1929091 RGD:1595037 615027 HGNC:30702 "ENST00000337682.9|NM_001135812.2" +HGNC:19052 SINHCAFP1 SINHCAF pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 HsT2323 FAM60BP "family with sequence similarity 60, member B pseudogene|family with sequence similarity 60 member B, pseudogene" 2005-06-30 2018-02-20 2018-02-20 2020-04-20 100421588 ENSG00000263829 OTTHUMG00000179430 NG_026282 PGOHUM00000234904 HGNC:19052 +HGNC:31737 SINHCAFP2 SINHCAF pseudogene 2 pseudogene pseudogene Approved 18q21.32 18q21.32 FAM60CP "family with sequence similarity 60, member C pseudogene|family with sequence similarity 60 member C, pseudogene" 2005-04-07 2018-02-20 2018-02-20 2018-02-20 728115 ENSG00000267742 OTTHUMG00000179954 NG_027872 PGOHUM00000294672 HGNC:31737 +HGNC:19896 SINHCAFP3 SINHCAF pseudogene 3 pseudogene pseudogene Approved 8p21.2 08p21.2 FAM60DP "family with sequence similarity 60, member D pseudogene|family with sequence similarity 60 member D, pseudogene" 2005-04-07 2018-02-20 2018-02-20 2020-04-20 646721 ENSG00000253488 OTTHUMG00000163866 NG_022381 PGOHUM00000249270 HGNC:19896 +HGNC:10885 SIPA1 signal-induced proliferation-associated 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 SPA1 "PDZ domain containing|MicroRNA protein coding host genes" "1220|1691" 1997-12-23 2008-09-12 2019-04-11 6494 ENSG00000213445 OTTHUMG00000166541 uc058dmg.1 "AH006363|BC010492|BM677738" NM_006747 CCDS8108 Q96FS4 9027487 MGI:107576 RGD:1303184 602180 HGNC:10885 "ENST00000534313.6|NM_006747.4" +HGNC:20284 SIPA1L1 signal induced proliferation associated 1 like 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "KIAA0440|E6TP1|SPAR1" spine‐associated RapGAP 1 signal-induced proliferation-associated 1 like 1 PDZ domain containing 1220 2003-12-11 2016-04-05 2019-08-20 26037 ENSG00000197555 OTTHUMG00000171282 uc001xms.5 AB007900 NM_015556 "CCDS61490|CCDS9807|CCDS61491" O43166 "9858596|20576033" MGI:2443679 RGD:708497 617504 HGNC:20284 "ENST00000381232.8|NM_001386936.1" +HGNC:55432 SIPA1L1-AS1 SIPA1L1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 Antisense RNAs 1987 2021-01-08 2021-01-08 102724015 ENSG00000259146 XR_001750808 +HGNC:23800 SIPA1L2 signal induced proliferation associated 1 like 2 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "KIAA1389|SPAR2" spine‐associated RapGAP 2 signal-induced proliferation-associated 1 like 2 PDZ domain containing 1220 2003-12-11 2016-04-05 2019-04-09 57568 ENSG00000116991 OTTHUMG00000037820 uc001hvg.4 AB037810 NM_020808 CCDS41474 Q9P2F8 "29463568|20576033" MGI:2676970 RGD:1306269 611609 HGNC:23800 "ENST00000674635.1|NM_020808.5" +HGNC:23801 SIPA1L3 signal induced proliferation associated 1 like 3 protein-coding gene gene with protein product Approved 19q13.13-q13.2 19q13.13-q13.2 "KIAA0545|SPAR3" spine‐associated RapGAP 3 signal-induced proliferation-associated 1 like 3 PDZ domain containing 1220 2003-12-11 2016-04-05 2019-04-09 23094 ENSG00000105738 OTTHUMG00000073727 uc002ohk.4 AB011117 NM_015073 CCDS33007 O60292 20576033 MGI:1921456 RGD:1311432 616655 458270 HGNC:23801 "ENST00000222345.11|NM_015073.3" HGNC:23801 +HGNC:53902 SIRLNT SIRT1 regulating lncRNA tumor promoter non-coding RNA RNA, long non-coding Approved 8p11.21 08p11.21 lncRNA-PRLB progression-associated lncRNA in breast cancer Long non-coding RNAs with non-systematic symbols 1992 2018-05-23 2018-05-23 112543493 ENSG00000253802 NR_156738 29752439 HGNC:53902 +HGNC:9662 SIRPA signal regulatory protein alpha protein-coding gene gene with protein product Approved 20p13 20p13 "SHPS1|SIRP|MYD-1|BIT|P84|SHPS-1|SIRPalpha|CD172a|SIRPalpha2|MFR|SIRP-ALPHA-1" PTPNS1 "protein tyrosine phosphatase, non-receptor type substrate 1|signal-regulatory protein alpha" "CD molecules|V-set domain containing|C1-set domain containing|Signal regulatory proteins|Ig-like cell adhesion molecule family" "471|590|591|747|1410" 1999-03-19 2006-03-29 2016-01-20 2016-01-20 140885 ENSG00000198053 OTTHUMG00000031682 uc002wfq.3 D86043 NM_080792 "CCDS82593|CCDS13022" P78324 "9070220|9062191|16339511" MGI:108563 RGD:3449 602461 objectId:2942 CD172a HGNC:9662 "ENST00000358771.5|NM_001040023.2" +HGNC:9663 SIRPAP1 signal regulatory protein alpha pseudogene 1 pseudogene pseudogene Approved 22q12.2 22q12.2 SIRPA2P PTPNS1L "protein tyrosine phosphatase, non-receptor type substrate 1-like|signal-regulatory protein alpha pseudogene 1" 1999-10-29 2010-10-25 2016-01-20 2016-01-20 23755 ENSG00000225774 OTTHUMG00000151257 NG_002457 "10591208|16339510" PGOHUM00000246563 HGNC:9663 +HGNC:15928 SIRPB1 signal regulatory protein beta 1 protein-coding gene gene with protein product Approved 20p13 20p13 "SIRP-BETA-1|CD172b" signal-regulatory protein beta 1 "CD molecules|V-set domain containing|C1-set domain containing|Signal regulatory proteins" "471|590|591|747" 2001-06-21 2016-01-20 2019-02-01 10326 ENSG00000101307 OTTHUMG00000031676 uc010gai.4 Y10376 NM_006065 "CCDS42850|CCDS13019|CCDS46571|CCDS82591" "O00241|Q5TFQ8" "9062191|16339511" "MGI:108563|MGI:2444824" 603889 CD172b HGNC:15928 "ENST00000381605.9|NM_006065.5" +HGNC:16247 SIRPB2 signal regulatory protein beta 2 protein-coding gene gene with protein product Approved 20p13 20p13 dJ776F14.2 "PTPN1L|PTPNS1L3" "protein tyrosine phosphatase, non-receptor type 1-like|protein tyrosine phosphatase, non-receptor type substrate 1-like 3|signal-regulatory protein beta 2" "V-set domain containing|Signal regulatory proteins" "590|747" 2001-07-17 2006-02-03 2016-01-20 2020-04-20 284759 ENSG00000196209 OTTHUMG00000031670 uc002wfg.3 AL109658 NM_178459 "CCDS46570|CCDS42849" Q5JXA9 "16339511|16691243" MGI:3779469 HGNC:16247 "ENST00000359801.8|NM_001122962.2" +HGNC:49209 SIRPB3P signal regulatory protein beta 3, pseudogene pseudogene pseudogene Approved 20p13 20p13 signal-regulatory protein beta 3, pseudogene Signal regulatory proteins 747 2013-10-08 2016-01-20 2020-04-20 105369219 ENSG00000223750 OTTHUMG00000031678 NR_164369 "16339510|16339511" MGI:3045317 RGD:1566226 HGNC:49209 +HGNC:16248 SIRPD signal regulatory protein delta protein-coding gene gene with protein product Approved 20p13 20p13 dJ576H24.4 PTPNS1L2 "protein tyrosine phosphatase, non-receptor type substrate 1-like 2|signal-regulatory protein delta" "V-set domain containing|Signal regulatory proteins" "590|747" 2001-07-17 2006-02-03 2016-01-20 2016-01-20 128646 ENSG00000125900 OTTHUMG00000031674 uc002wfi.4 AL049634 NM_178460 CCDS13018 Q9H106 16339511 MGI:3780136 RGD:6501293 HGNC:16248 "ENST00000381623.4|NM_178460.3" +HGNC:15757 SIRPG signal regulatory protein gamma protein-coding gene gene with protein product Approved 20p13 20p13 "bA77C3.1|SIRP-B2|SIRPgamma|CD172g" SIRPB2 "signal-regulatory protein beta 2|signal-regulatory protein gamma" "CD molecules|V-set domain containing|C1-set domain containing|Signal regulatory proteins|Ig-like cell adhesion molecule family" "471|590|591|747|1410" 2001-09-17 2006-02-03 2016-01-20 2016-01-20 55423 ENSG00000089012 OTTHUMG00000031680 uc002wfm.1 AB042624 NM_018556 "CCDS13020|CCDS13021|CCDS33434" Q9P1W8 "11185750|16339511" MGI:108563 605466 CD172g HGNC:15757 "ENST00000303415.7|NM_018556.4" HGNC:15757 +HGNC:51229 SIRPG-AS1 SIRPG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 Antisense RNAs 1987 2014-08-08 2014-08-08 101929010 ENSG00000237914 OTTHUMG00000031675 AK093519 NR_110090 SIRPG-AS1 HGNC:51229 +HGNC:14929 SIRT1 sirtuin 1 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 SIR2L1 "sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1|sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)" "Sirtuins|eNoSC complex" "938|1477" 2001-03-20 2010-06-25 2016-10-05 23411 ENSG00000096717 OTTHUMG00000018340 uc001jnd.3 AF083106 NM_012238 "CCDS7273|CCDS44412|CCDS81469" Q96EB6 10381378 MGI:2135607 RGD:1308542 604479 471064 objectId:2707 HGNC:14929 "ENST00000212015.11|NM_012238.5" +HGNC:51912 SIRT1-AS SIRT1 antisense RNA non-coding RNA RNA, long non-coding Approved 10q21.3 10q21.3 Antisense RNAs 1987 2015-09-23 2017-01-27 106633813 26324025 +HGNC:10886 SIRT2 sirtuin 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 SIR2L "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2|sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)" Sirtuins 938 1998-10-14 2010-06-25 2016-10-05 22933 ENSG00000068903 OTTHUMG00000150480 uc002ojt.3 AF083107 NM_001193286 "CCDS46069|CCDS12523|CCDS74361" Q8IXJ6 "10393250|10381378" MGI:1927664 RGD:621481 604480 objectId:2708 HGNC:10886 "ENST00000249396.12|NM_012237.4" +HGNC:14931 SIRT3 sirtuin 3 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 SIR2L3 "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3|sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2014-11-18 23410 ENSG00000142082 OTTHUMG00000119074 uc001lok.5 AF083108 NM_001017524 "CCDS53590|CCDS7691" Q9NTG7 "10381378|18215119" MGI:1927665 RGD:1308374 604481 objectId:2709 HGNC:14931 "ENST00000382743.9|NM_012239.6" +HGNC:14932 SIRT4 sirtuin 4 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 SIR2L4 "sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4|sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2014-11-19 23409 ENSG00000089163 OTTHUMG00000169028 uc001tyc.4 AF083109 NM_012240 CCDS9194 Q9Y6E7 10381378 MGI:1922637 RGD:1310413 604482 objectId:2710 HGNC:14932 "ENST00000202967.4|NM_012240.3" +HGNC:14933 SIRT5 sirtuin 5 protein-coding gene gene with protein product Approved 6p23 06p23 "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5|sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2014-11-19 23408 ENSG00000124523 OTTHUMG00000014278 uc003nay.4 AF083110 NM_001193267 "CCDS4526|CCDS54966|CCDS4527|CCDS56398" Q9NXA8 10381378 MGI:1915596 RGD:1303285 604483 objectId:2711 HGNC:14933 "ENST00000606117.2|NM_012241.5" +HGNC:14934 SIRT6 sirtuin 6 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6|sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2019-08-20 51548 ENSG00000077463 OTTHUMG00000181847 uc002lzo.4 AF233396 NM_001193285 "CCDS54199|CCDS82275|CCDS82276|CCDS12122" Q8N6T7 10873683 MGI:1354161 RGD:1305216 606211 objectId:2712 HGNC:14934 "ENST00000337491.7|NM_016539.4" +HGNC:14935 SIRT7 sirtuin 7 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7|sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)" Sirtuins 938 2001-03-20 2010-06-25 2014-11-19 51547 ENSG00000187531 OTTHUMG00000177957 uc002kcj.3 AF233395 NM_016538 CCDS11792 Q9NRC8 "10873683|16618798" MGI:2385849 RGD:1305876 606212 objectId:2713 HGNC:14935 "ENST00000328666.11|NM_016538.3" +HGNC:17710 SIT1 signaling threshold regulating transmembrane adaptor 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 SIT SHP2 interacting transmembrane adaptor suppression inducing transmembrane adaptor 1 2005-04-25 2005-04-26 2016-10-05 27240 ENSG00000137078 OTTHUMG00000019867 uc003zxe.3 NM_014450 CCDS6582 Q9Y3P8 "11491537|10209036" MGI:1889342 RGD:1559919 604964 HGNC:17710 "ENST00000259608.8|NM_014450.3" +HGNC:17712 SIVA1 SIVA1 apoptosis inducing factor protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "SIVA|Siva-1|Siva-2|CD27BP" 2006-12-05 2016-02-09 2016-02-09 10572 ENSG00000184990 OTTHUMG00000170819 uc001yph.4 U82938 NM_006427 "CCDS9993|CCDS9992" O15304 9177220 MGI:1353606 RGD:1561872 605567 HGNC:17712 "ENST00000329967.11|NM_006427.4" +HGNC:10887 SIX1 SIX homeobox 1 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 DFNA23 "sine oculis homeobox (Drosophila) homolog 1|sine oculis homeobox homolog 1 (Drosophila)|deafness, autosomal dominant 23" SINE class homeoboxes 525 1995-09-29 2007-07-13 2021-05-26 6495 ENSG00000126778 OTTHUMG00000140334 uc001xfb.5 X91868 NM_005982 CCDS9748 Q15475 "8617500|15141091" MGI:102780 RGD:620906 SIX1 601205 8511 118723 HGNC:10887 "ENST00000645694.3|NM_005982.4" HGNC:10887 +HGNC:10888 SIX2 SIX homeobox 2 protein-coding gene gene with protein product Approved 2p21 02p21 "sine oculis homeobox (Drosophila) homolog 2|sine oculis homeobox homolog 2 (Drosophila)" SINE class homeoboxes 525 1999-04-15 2007-07-13 2021-05-26 10736 ENSG00000170577 OTTHUMG00000152421 uc002ruo.4 AF136939 NM_016932 CCDS1822 Q9NPC8 10773454 MGI:102778 RGD:1310792 604994 8512 HGNC:10888 "ENST00000303077.7|NM_016932.5" +HGNC:10889 SIX3 SIX homeobox 3 protein-coding gene gene with protein product Approved 2p21 02p21 HPE2 "holoprosencephaly 2, alobar or semilobar|sine oculis homeobox homolog 3 (Drosophila)" SINE class homeoboxes 525 1998-04-21 2007-07-13 2021-05-26 6496 ENSG00000138083 OTTHUMG00000152424 uc002run.2 AF092047 NM_005413 CCDS1821 O95343 "9889003|10369266" MGI:102764 RGD:620909 603714 8513 118725 HGNC:10889 "ENST00000260653.5|NM_005413.4" HGNC:10889 +HGNC:40532 SIX3-AS1 SIX3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p21 02p21 SIX3OS SIX3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-01 2012-08-15 2016-11-24 100506108 ENSG00000236502 OTTHUMG00000152423 uc032nlu.2 "BM690547|BM663835" NR_103785 15703187 six3os SIX3-AS1 HGNC:40532 +HGNC:10890 SIX4 SIX homeobox 4 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 AREC3 "sine oculis homeobox (Drosophila) homolog 4|sine oculis homeobox homolog 4 (Drosophila)" SINE class homeoboxes 525 2001-06-22 2007-07-13 2014-11-18 51804 ENSG00000100625 OTTHUMG00000028996 uc001xfc.4 AB024687 NM_017420 CCDS9749 Q9UIU6 "10512683|10640827" MGI:106034 RGD:1306726 606342 8514 HGNC:10890 "ENST00000216513.5|NM_017420.5" +HGNC:10891 SIX5 SIX homeobox 5 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 DMAHP "sine oculis homeobox (Drosophila) homolog 5|sine oculis homeobox homolog 5 (Drosophila)" SINE class homeoboxes 525 1997-05-29 2007-07-13 2021-05-26 147912 ENSG00000177045 OTTHUMG00000172208 uc002pdb.4 L08835 NM_175875 CCDS12673 Q8N196 8595416 MGI:106220 RGD:1305040 600963 8515 138472 HGNC:10891 "ENST00000317578.7|NM_175875.5" HGNC:10891 +HGNC:10892 SIX6 SIX homeobox 6 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 Six9 OPTX2 "sine oculis homeobox (Drosophila) homolog 6|sine oculis homeobox homolog 6 (Drosophila)" SINE class homeoboxes 525 1998-04-21 2007-07-13 2021-05-26 4990 ENSG00000184302 OTTHUMG00000152339 uc001xfa.5 AF141651 NM_007374 CCDS9747 O95475 10512683 MGI:1341840 RGD:1310497 606326 8516 118728 HGNC:10892 "ENST00000327720.6|NM_007374.3" HGNC:10892 +HGNC:28109 SKA1 spindle and kinetochore associated complex subunit 1 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 MGC10200 C18orf24 chromosome 18 open reading frame 24 2004-05-19 2009-08-19 2009-08-19 2014-11-19 220134 ENSG00000154839 OTTHUMG00000132685 uc002let.4 BC015706 NM_145060 CCDS11946 Q96BD8 17093495 MGI:1913718 RGD:1310784 616673 HGNC:28109 "ENST00000285116.8|NM_145060.4" +HGNC:28006 SKA2 spindle and kinetochore associated complex subunit 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 FLJ12758 FAM33A family with sequence similarity 33, member A MicroRNA protein coding host genes 1691 2004-02-24 2009-08-19 2009-08-19 2014-11-19 348235 ENSG00000182628 OTTHUMG00000179361 uc002ixd.3 BC017873 NM_182620 "CCDS45747|CCDS45748|CCDS82175" Q8WVK7 "17093495|19289083|18583474" MGI:1913390 RGD:1307084 616674 HGNC:28006 "ENST00000330137.12|NM_182620.4" +HGNC:23122 SKA2P1 spindle and kinetochore associated complex subunit 2 pseudogene 1 pseudogene pseudogene Approved 9q33.2 09q33.2 Em:AC006313.1 "FAM33B|SKA2L" "family with sequence similarity 33, member B|spindle and kinetochore associated complex subunit 2-like" 2004-06-02 2013-01-16 2013-01-16 2020-04-20 729012 ENSG00000232387 OTTHUMG00000020617 NG_027505 HGNC:23122 +HGNC:20262 SKA3 spindle and kinetochore associated complex subunit 3 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "MGC4832|RAMA1" C13orf3 chromosome 13 open reading frame 3 2003-01-16 2009-08-19 2009-08-19 2016-10-05 221150 ENSG00000165480 OTTHUMG00000016539 uc001unt.3 AF361358 NM_145061 "CCDS53856|CCDS31946" Q8IX90 "19387489|19289083|19646878|19360002" MGI:3041235 RGD:1307201 619247 HGNC:20262 "ENST00000314759.6|NM_145061.6" +HGNC:15605 SKAP1 src kinase associated phosphoprotein 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 SKAP55 SCAP1 src family associated phosphoprotein 1 "Pleckstrin homology domain containing|MicroRNA protein coding host genes" "682|1691" 2001-06-21 2006-09-28 2006-09-28 2020-04-01 8631 ENSG00000141293 OTTHUMG00000178823 uc002ini.2 Y11215 NM_003726 CCDS32674 Q86WV1 9195899 MGI:1925723 RGD:708436 604969 HGNC:15605 "ENST00000336915.11|NM_003726.4" +HGNC:53166 SKAP1-AS1 SKAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 RP11-456D7.1 Antisense RNAs 1987 2017-03-03 2017-03-03 110806289 ENSG00000263787 OTTHUMG00000178825 27663962 +HGNC:55570 SKAP1-AS2 SKAP1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 BTR BT474 transcribed rearrangement Antisense RNAs 1987 2021-04-21 2021-04-21 105371807 ENSG00000235300 NR_131239 7511052 +HGNC:15687 SKAP2 src kinase associated phosphoprotein 2 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "RA70|SKAP-HOM|SKAP55R|SAPS" SCAP2 src family associated phosphoprotein 2 Pleckstrin homology domain containing 682 2001-07-19 2006-09-28 2006-09-28 2014-11-19 8935 ENSG00000005020 OTTHUMG00000023495 uc003syc.4 NM_001303468 CCDS5400 O75563 "9837776|9755858" MGI:1889206 RGD:620159 605215 HGNC:15687 "ENST00000345317.7|NM_003930.5" +HGNC:10896 SKI SKI proto-oncogene protein-coding gene gene with protein product Approved 1p36.33-p36.32 01p36.33-p36.32 Sloan-Kettering Institute proto-oncogene v-ski avian sarcoma viral oncogene homolog SKI transcriptional corepressors 748 2001-06-22 2014-06-25 2022-03-24 6497 ENSG00000157933 OTTHUMG00000001407 uc001aja.5 X15218 NM_003036 CCDS39 P12755 2762147 MGI:98310 RGD:1565591 164780 311140 HGNC:10896 "ENST00000378536.5|NM_003036.4" HGNC:10896 +HGNC:32697 SKIDA1 SKI/DACH domain containing 1 protein-coding gene gene with protein product Approved 10p12.31 10p12.31 FLJ45187 C10orf140 chromosome 10 open reading frame 140 2007-08-14 2012-06-13 2012-06-13 2014-11-19 387640 ENSG00000180592 OTTHUMG00000017797 uc009xkd.4 AK131456 NM_207371 CCDS44363 Q1XH10 MGI:1919918 RGD:1588196 HGNC:32697 "ENST00000449193.7|NM_207371.4" +HGNC:10897 SKIL SKI like proto-oncogene protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "SNO|SnoN|SnoA" SKI-like oncogene SKI transcriptional corepressors 748 1997-11-28 2016-08-09 2016-10-05 6498 ENSG00000136603 OTTHUMG00000158831 uc003fgw.4 X15217 NM_005414 "CCDS46954|CCDS46953|CCDS33890" P12757 2762147 MGI:106203 RGD:621399 165340 471066 HGNC:10897 "ENST00000259119.9|NM_005414.5" +HGNC:33993 SKINT1L Skint1 like (pseudogene) pseudogene pseudogene Approved 1p33 01p33 BTN12 "SKINTP|SKINTL" Butyrophilins 458 2009-04-30 2016-01-06 2016-01-06 2016-01-06 391037 ENSG00000242267 OTTHUMG00000007955 NR_026749 "18408721|25830554" MGI:3649627 RGD:6490949 616392 HGNC:33993 +HGNC:10898 SKIV2L Ski2 like RNA helicase protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "HLP|DDX13|SKI2W|170A|SKIV2L1|SKI2" SKIV2 "superkiller viralicidic activity 2 (S. cerevisiae homolog)-like|superkiller viralicidic activity 2-like (S. cerevisiae)|SKI2 homolog, superkiller viralicidic activity 2-like" "Ski2 like RNA helicases|SKI complex subunits" "1559|2119" 1995-07-06 2016-01-08 2022-04-01 6499 ENSG00000204351 OTTHUMG00000031146 uc003nyn.2 NM_006929 CCDS4731 Q15477 "7759100|9799600" MGI:1099835 RGD:1303059 600478 299641 HGNC:10898 "ENST00000375394.7|NM_006929.5" HGNC:10898 +HGNC:21326 SKOR1 SKI family transcriptional corepressor 1 protein-coding gene gene with protein product Approved 15q23 15q23 "CORL1|FUSSEL15" "transcriptional corepressor CORL1|functional smad suppressing element 15|corepressor for LBX1" LBXCOR1 Lbxcor1 homolog (mouse) SKI transcriptional corepressors 748 2005-05-08 2010-06-23 2010-06-23 2014-11-19 390598 ENSG00000188779 OTTHUMG00000170878 uc031qsn.2 NM_001031807 CCDS58374 P84550 15528197 MGI:2443473 RGD:1307687 611273 HGNC:21326 "ENST00000380035.3|NM_001365915.1" +HGNC:32695 SKOR2 SKI family transcriptional corepressor 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "CORL2|FUSSEL18|Fussel-18" functional smad suppressing element 18 SKI transcriptional corepressors 748 2010-06-23 2011-08-04 652991 ENSG00000215474 OTTHUMG00000180309 uc010dnt.2 AY669508 NM_001037802 "CCDS74222|CCDS62441" Q2VWA4 "16200078|18522874" MGI:3645984 RGD:1598071 617138 HGNC:32695 "ENST00000425639.3|NM_001278063.4" HGNC:32695 +HGNC:10899 SKP1 S-phase kinase associated protein 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "EMC19|OCP2|TCEB1L|MGC34403|OCP-II|p19A" SKP1A S-phase kinase-associated protein 1A (p19A) SCF complex core subunits 2126 1995-12-18 2007-11-13 2016-09-09 2016-10-05 6500 ENSG00000113558 OTTHUMG00000129117 uc003kzc.5 U33760 NM_170679 "CCDS4172|CCDS4171" P63208 "7553852|8646875" MGI:103575 RGD:1359648 601434 HGNC:10899 "ENST00000353411.11|NM_170679.3" +HGNC:33696 SKP1P1 S-phase kinase associated protein 1 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 EMC19 "OCP2|TCEB1L|TCEB1P" "transcription elongation factor B (SIII), polypeptide 1-like|transcription elongation factor B (SIII), polypeptide 1 pseudogene" 2007-11-13 2016-09-09 2020-04-20 6922 ENSG00000231234 OTTHUMG00000156598 NG_002399.3 PGOHUM00000232843 HGNC:33696 +HGNC:10900 SKP1P2 S-phase kinase associated protein 1 pseudogene 2 pseudogene pseudogene Approved 12p12.3 12p12.3 p19B SKP1B S-phase kinase-associated protein 1B (p19B) 1995-12-18 2007-11-13 2016-09-09 2020-04-20 728622 ENSG00000256211 NR_036619 8646875 601435 HGNC:10900 +HGNC:50370 SKP1P3 S-phase kinase associated protein 1 pseudogene 3 pseudogene pseudogene Approved 9p12 09p12 2014-04-24 2016-09-09 2016-09-09 100101119 ENSG00000229707 OTTHUMG00000013209 NG_006153 PGOHUM00000257226 HGNC:50370 +HGNC:10901 SKP2 S-phase kinase associated protein 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "FBXL1|FBL1|p45" "S-phase kinase-associated protein 2 (p45)|S-phase kinase-associated protein 2, E3 ubiquitin protein ligase" F-box and leucine rich repeat proteins 558 1995-12-18 2016-09-09 2016-10-05 6502 ENSG00000145604 OTTHUMG00000131106 uc003jkc.3 U33761 NM_005983 "CCDS3916|CCDS3915|CCDS58944" Q13309 8646875 MGI:1351663 RGD:1562456 601436 HGNC:10901 "ENST00000274255.11|NM_005983.4" +HGNC:55027 SKP2P1 SKP2 pseudogene 1 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-28 2020-05-28 100130500 ENSG00000229693 NG_022681 +HGNC:10902 SLA Src like adaptor protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "SLA1|SLAP-1|hSLAP|SLAP" "Src-like-adapter|Src-like-adaptor" "SH2 domain containing|MicroRNA protein coding host genes" "741|1691" 1995-08-11 2016-12-12 2016-12-13 6503 ENSG00000155926 OTTHUMG00000164439 uc003ytz.4 NM_001045556 "CCDS64977|CCDS6370|CCDS64978|CCDS47923|CCDS47922" Q13239 "8825655|11179692|26339145" MGI:104295 RGD:631373 601099 HGNC:10902 "ENST00000338087.10|NM_001045556.3" +HGNC:17329 SLA2 Src like adaptor 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "FLJ21992|SLAP-2" C20orf156 Src-like-adaptor 2 SH2 domain containing 741 2001-12-19 2016-06-17 2016-12-12 84174 ENSG00000101082 OTTHUMG00000032393 uc002xfv.4 AF326353 NM_175077 "CCDS13283|CCDS13282" Q9H6Q3 "11696592|26339145" MGI:1925049 RGD:1562071 606577 HGNC:17329 "ENST00000262866.9|NM_032214.4" +HGNC:26387 SLAIN1 SLAIN motif family member 1 protein-coding gene gene with protein product Approved 13q22.3 13q22.3 FLJ30046 C13orf32 chromosome 13 open reading frame 32 2006-08-08 2006-09-12 2015-11-13 2016-04-25 122060 ENSG00000139737 OTTHUMG00000017110 uc001vkm.3 AK054608 NM_144595 "CCDS31995|CCDS73589|CCDS55901|CCDS9460|CCDS73588" Q8ND83 16546155 MGI:2145578 RGD:1308626 610491 HGNC:26387 "ENST00000418532.6|NM_001242868.2" +HGNC:29282 SLAIN2 SLAIN motif family member 2 protein-coding gene gene with protein product Approved 4p11 04p11 FLJ21611 KIAA1458 KIAA1458 2006-08-08 2006-09-12 2015-11-13 2016-10-05 57606 ENSG00000109171 OTTHUMG00000161701 uc003gya.5 BC006139 NM_020846 CCDS47051 Q9P270 16546155 MGI:1923241 RGD:1311593 610492 HGNC:29282 "ENST00000264313.11|NM_020846.2" +HGNC:10903 SLAMF1 signaling lymphocytic activation molecule family member 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 CD150 SLAM signaling lymphocytic activation molecule "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 1998-08-06 2003-10-31 2003-10-29 2014-11-18 6504 ENSG00000117090 OTTHUMG00000024006 uc001fwl.6 U33017 NM_001330754 "CCDS1207|CCDS81389" Q13291 7617038 MGI:1351314 RGD:1560634 603492 CD150 HGNC:10903 "ENST00000302035.11|NM_003037.5" +HGNC:21392 SLAMF6 SLAM family member 6 protein-coding gene gene with protein product Approved 1q23.2-q23.3 01q23.2-q23.3 "KALI|NTBA|KALIb|Ly108|SF2000|NTB-A|CD352" "CD molecules|V-set domain containing|Ig-like cell adhesion molecule family" "471|590|1410" 2003-10-29 2018-02-13 114836 ENSG00000162739 OTTHUMG00000022729 uc001fwd.2 AL832854 NM_052931 "CCDS53394|CCDS53393|CCDS1205" Q96DU3 11489943 MGI:1353620 RGD:1561848 606446 HGNC:21392 "ENST00000368057.8|NM_001184714.2" +HGNC:32012 SLAMF6P1 SLAM family member 6 pseudogene 1 pseudogene pseudogene Approved 1q23.3 01q23.3 2011-08-11 2011-08-11 100862852 ENSG00000227243 OTTHUMG00000031372 NG_032142 PGOHUM00000245049 HGNC:32012 +HGNC:21394 SLAMF7 SLAM family member 7 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "CRACC|19A|CS1|CD319" "CD molecules|V-set domain containing" "471|590" 2003-10-29 2016-10-05 57823 ENSG00000026751 OTTHUMG00000024008 uc001fwq.5 AB027233 NM_021181 "CCDS60323|CCDS60325|CCDS72956|CCDS60321|CCDS1209|CCDS60324|CCDS72957|CCDS60322" Q9NQ25 "11802771|11220635" MGI:1922595 RGD:1560190 606625 objectId:2850 CD319 HGNC:21394 "ENST00000368043.8|NM_021181.5" +HGNC:21391 SLAMF8 SLAM family member 8 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "BLAME|SBBI42|CD353" "CD molecules|Immunoglobulin like domain containing" "471|594" 2003-10-29 2016-10-05 56833 ENSG00000158714 OTTHUMG00000035433 uc001fue.5 AF146761 NM_020125 "CCDS1188|CCDS81387" Q9P0V8 11313408 MGI:1921998 RGD:1306263 606620 HGNC:21391 "ENST00000289707.10|NM_020125.3" +HGNC:18430 SLAMF9 SLAM family member 9 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "CD2F-10|CD84-H1|SF2001" V-set domain containing 590 2003-10-29 2016-10-05 89886 ENSG00000162723 OTTHUMG00000024074 uc001fus.3 AY034613 NM_033438 "CCDS1191|CCDS53392" Q96A28 11685473 MGI:1923692 RGD:1305945 608589 HGNC:18430 "ENST00000368093.4|NM_033438.4" +HGNC:10904 SLBP stem-loop binding protein protein-coding gene gene with protein product Approved 4p16.3 04p16.3 HBP histone binding protein stem-loop (histone) binding protein 2000-06-15 2008-02-11 2014-11-19 7884 ENSG00000163950 OTTHUMG00000089349 uc003gdi.2 Z71188 NM_006527 "CCDS77889|CCDS82903|CCDS3350" Q14493 "9049306|1338771" MGI:108402 RGD:1584682 602422 HGNC:10904 "ENST00000489418.6|NM_006527.4" +HGNC:54813 SLBP-DT SLBP divergent transcript non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 Divergent transcripts 1990 2020-07-12 2020-07-16 118568800 ENSG00000270195 32079618 +HGNC:10939 SLC1A1 solute carrier family 1 member 1 protein-coding gene gene with protein product Approved 9p24.2 09p24.2 "EAAC1|EAAT3" solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 Solute carriers 752 1994-02-15 2016-02-17 2016-10-05 6505 ENSG00000106688 OTTHUMG00000019468 uc003zij.3 NM_004170 CCDS6452 P43005 8020993 MGI:105083 RGD:3696 133550 SLC1A1 353548 objectId:870 HGNC:10939 "ENST00000262352.8|NM_004170.6" HGNC:10939 +HGNC:10940 SLC1A2 solute carrier family 1 member 2 protein-coding gene gene with protein product Approved 11p13 11p13 "GLT-1|EAAT2" solute carrier family 1 (glial high affinity glutamate transporter), member 2 Solute carriers 752 1994-02-15 2016-02-17 2016-02-17 6506 ENSG00000110436 OTTHUMG00000044391 uc001mwd.4 AB209444 NM_004171 "CCDS31459|CCDS55756" P43004 1448170 MGI:101931 RGD:3697 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 600300 SLC1A2 471072 objectId:869 HGNC:10940 "ENST00000278379.9|NM_004171.4" HGNC:10940 +HGNC:40534 SLC1A2-AS1 SLC1A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p13 11p13 Antisense RNAs 1987 2020-03-26 2020-03-26 107984324 ENSG00000255004 OTTHUMG00000166308 XR_001748185 +HGNC:10941 SLC1A3 solute carrier family 1 member 3 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "EAAT1|GLAST|EA6" solute carrier family 1 (glial high affinity glutamate transporter), member 3 Solute carriers 752 1994-02-15 2016-02-17 2022-01-28 6507 ENSG00000079215 OTTHUMG00000090793 uc003jkj.4 NM_004172 "CCDS3919|CCDS78003|CCDS78004|CCDS54844" P43003 "7521911|7698014" MGI:99917 RGD:3698 600111 SLC1A3 212892 objectId:868 HGNC:10941 "ENST00000265113.9|NM_004172.5" HGNC:10941 +HGNC:10942 SLC1A4 solute carrier family 1 member 4 protein-coding gene gene with protein product Approved 2p14 02p14 "SATT|ASCT1" alanine/serine/cysteine/threonine transporter solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 Solute carriers 752 1993-12-16 2016-02-17 2016-02-17 6509 ENSG00000115902 OTTHUMG00000129537 uc010yqa.3 NM_003038 "CCDS1879|CCDS54362" P43007 "7896285|8910405" MGI:2135601 RGD:735146 600229 SLC1A4 457197 objectId:873 HGNC:10942 "ENST00000234256.4|NM_003038.5" HGNC:10942 +HGNC:10943 SLC1A5 solute carrier family 1 member 5 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "AAAT|ASCT2" "RDRC|M7V1" solute carrier family 1 (neutral amino acid transporter), member 5 "Solute carriers|Minor histocompatibility antigens" "752|870" 1994-09-27 2016-02-17 2016-02-17 6510 ENSG00000105281 OTTHUMG00000183434 uc002pfs.4 U53347 NM_001145144 "CCDS12692|CCDS46126|CCDS46125" Q15758 "8702519|10051606" MGI:105305 RGD:708512 109190 SLC1A5 objectId:874 HGNC:10943 "ENST00000542575.6|NM_005628.3" +HGNC:10944 SLC1A6 solute carrier family 1 member 6 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 EAAT4 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 Solute carriers 752 1997-02-05 2016-02-17 2016-02-17 6511 ENSG00000105143 OTTHUMG00000183351 uc002naa.3 NM_005071 "CCDS12321|CCDS62578" P48664 7791878 MGI:1096331 RGD:620340 600637 SLC1A6 objectId:871 HGNC:10944 "ENST00000594383.2|NM_005071.3" +HGNC:10945 SLC1A7 solute carrier family 1 member 7 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 EAAT5 solute carrier family 1 (glutamate transporter), member 7 Solute carriers 752 1996-11-15 2016-02-17 2016-02-17 6512 ENSG00000162383 OTTHUMG00000008937 uc001cuy.5 U76362 NM_006671 "CCDS72796|CCDS72798|CCDS574|CCDS72797" O00341 9108121 MGI:2444087 RGD:1311928 604471 SLC1A7 objectId:872 HGNC:10945 "ENST00000371494.9|NM_006671.6" +HGNC:11005 SLC2A1 solute carrier family 2 member 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "DYT18|DYT9|GLUT-1" "GLUT1|GLUT|HTLVR|CSE" "human T-cell leukemia virus (I and II) receptor|choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)|solute carrier family 2 (facilitated glucose transporter), member 1" Solute carriers 752 1994-11-18 2016-02-17 2022-02-10 6513 ENSG00000117394 OTTHUMG00000007657 uc001cik.3 K03195 NM_006516 CCDS477 P11166 "8839927|14622599|18451999|21832227" MGI:95755 RGD:3704 LRG_1132|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1132.xml 138140 SLC2A1 158410 objectId:875 HGNC:11005 "ENST00000426263.10|NM_006516.4" HGNC:11005 +HGNC:44187 SLC2A1-DT SLC2A1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 SLC2A1-AS1 "SLC2A1 antisense RNA 1 (non-protein coding)|SLC2A1 antisense RNA 1" Divergent transcripts 1990 2012-06-30 2021-07-29 2021-07-29 2021-07-29 440584 ENSG00000227533 OTTHUMG00000007699 uc001cil.3 AK056786 NR_033967 SLC2A1-AS1 HGNC:44187 +HGNC:11006 SLC2A2 solute carrier family 2 member 2 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 GLUT2 solute carrier family 2 (facilitated glucose transporter), member 2 Solute carriers 752 1989-01-13 2016-02-17 2016-02-17 6514 ENSG00000163581 OTTHUMG00000158997 uc003fhe.2 J03810 NM_000340 CCDS3215 P11168 1852621 MGI:1095438 RGD:3705 138160 SLC2A2 118828 objectId:876 HGNC:11006 "ENST00000314251.8|NM_000340.2" HGNC:11006 +HGNC:11007 SLC2A3 solute carrier family 2 member 3 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 GLUT3 solute carrier family 2 (facilitated glucose transporter), member 3 Solute carriers 752 1989-03-09 2016-02-17 2016-10-05 6515 ENSG00000059804 OTTHUMG00000133685 uc001qtr.4 M20681 NM_006931 CCDS8586 P11169 MGI:95757 RGD:3706 138170 SLC2A3 406394 objectId:877 HGNC:11007 "ENST00000075120.12|NM_006931.3" +HGNC:11008 SLC2A3P1 solute carrier family 2 member 3 pseudogene 1 pseudogene pseudogene Approved 5q34 05q34 "GLUT6|GLUT3P1|SLC2A3P" "solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene|solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 1" 1994-05-25 2004-01-28 2016-02-17 2016-02-17 100128062 ENSG00000253861 OTTHUMG00000163047 M55536 NG_008263 11882521 SLC2A3P1 HGNC:11008 +HGNC:31074 SLC2A3P2 solute carrier family 2 member 3 pseudogene 2 pseudogene pseudogene Approved 1p31.3 01p31.3 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 2 2004-01-26 2016-02-17 2016-02-17 391045 ENSG00000185031 OTTHUMG00000009309 AC025866 NG_023402 11882521 SLC2A3P2 PGOHUM00000244056 HGNC:31074 +HGNC:31076 SLC2A3P4 solute carrier family 2 member 3 pseudogene 4 pseudogene pseudogene Approved 8q21.3 08q21.3 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 4 2004-01-26 2016-02-17 2016-02-17 399495 ENSG00000254088 OTTHUMG00000163721 AC103817 NG_009577 SLC2A3P4 PGOHUM00000249736 HGNC:31076 +HGNC:11009 SLC2A4 solute carrier family 2 member 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 GLUT4 solute carrier family 2 (facilitated glucose transporter), member 4 Solute carriers 752 1989-03-06 2016-02-17 2016-10-05 6517 ENSG00000181856 OTTHUMG00000102181 uc002gfp.4 M20747 NM_001042 CCDS11097 P14672 MGI:95758 RGD:2711 138190 SLC2A4 objectId:878 HGNC:11009 "ENST00000317370.13|NM_001042.3" +HGNC:15930 SLC2A4RG SLC2A4 regulator protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "GEF|HDBP1|Si-1-2|Si-1-2-19" "GLUT4 enhancer factor|Huntington's disease gene regulatory region-binding protein 1" 2001-06-21 2014-11-18 56731 ENSG00000125520 OTTHUMG00000032997 uc002ygq.4 AF249267 NM_020062 CCDS13537 Q9NR83 10825161 609493 HGNC:15930 "ENST00000266077.5|NM_020062.4" +HGNC:11010 SLC2A5 solute carrier family 2 member 5 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 GLUT5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 Solute carriers 752 1994-05-25 2016-02-17 2016-10-05 6518 ENSG00000142583 OTTHUMG00000001771 uc001apo.4 BC001820 NM_003039 "CCDS99|CCDS44054" P22732 9691177 MGI:1928369 RGD:68328 138230 SLC2A5 471080 objectId:880 HGNC:11010 "ENST00000377424.9|NM_003039.3" +HGNC:11011 SLC2A6 solute carrier family 2 member 6 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "GLUT9|GLUT6|HSA011372" solute carrier family 2 (facilitated glucose transporter), member 6 Solute carriers 752 1999-09-07 2016-02-17 2016-10-05 11182 ENSG00000160326 OTTHUMG00000020874 uc004cee.4 AJ011372 NM_017585 "CCDS48052|CCDS6975" Q9UGQ3 10970791 MGI:2443286 RGD:1309317 606813 SLC2A6 objectId:884 HGNC:11011 "ENST00000371899.9|NM_017585.4" HGNC:11011 +HGNC:13445 SLC2A7 solute carrier family 2 member 7 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 GLUT7 intestinal facilitative glucose transporter 7 solute carrier family 2 (facilitated glucose transporter), member 7 Solute carriers 752 2001-11-02 2016-02-17 2016-10-05 155184 ENSG00000197241 OTTHUMG00000057499 uc009vmo.1 AL356306 NM_207420 CCDS98 Q6PXP3 11780753 MGI:3650865 RGD:1583902 610371 SLC2A7 objectId:881 HGNC:13445 "ENST00000400906.2|NM_207420.3" +HGNC:13812 SLC2A8 solute carrier family 2 member 8 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "GLUTX1|GLUT8" "solute carrier family 2 (facilitated glucose transporter) member 8|solute carrier family 2 (facilitated glucose transporter), member 8" Solute carriers 752 2000-11-09 2016-02-17 2016-02-17 29988 ENSG00000136856 OTTHUMG00000020702 uc004bqu.5 AJ245937 NM_014580 "CCDS6870|CCDS65138|CCDS75903" Q9NY64 "10671487|10821868" MGI:1860103 RGD:620611 605245 SLC2A8 objectId:885 HGNC:13812 "ENST00000373371.8|NM_014580.5" +HGNC:13446 SLC2A9 solute carrier family 2 member 9 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "Glut9|GLUTX|URATv1" urate voltage-driven efflux transporter 1 solute carrier family 2 (facilitated glucose transporter), member 9 Solute carriers 752 2000-09-28 2016-02-17 2016-02-17 56606 ENSG00000109667 OTTHUMG00000044263 uc003gmc.4 AF210317 NM_001001290 "CCDS3407|CCDS3406" Q9NRM0 "10860667|17710649" MGI:2152844 RGD:1597012 606142 SLC2A9 171045 objectId:882 HGNC:13446 "ENST00000264784.8|NM_020041.3" HGNC:13446 +HGNC:40636 SLC2A9-AS1 SLC2A9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p16.1 04p16.1 Antisense RNAs 1987 2020-03-26 2020-03-26 105374476 ENSG00000250413 OTTHUMG00000160251 XR_001741589 +HGNC:13444 SLC2A10 solute carrier family 2 member 10 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 GLUT10 solute carrier family 2 (facilitated glucose transporter), member 10 Solute carriers 752 2001-04-02 2016-02-17 2016-02-17 81031 ENSG00000197496 OTTHUMG00000032657 uc002xsl.4 AL137188 NM_030777 CCDS13402 O95528 11247674 MGI:2156687 RGD:1306552 606145 SLC2A10 118825 objectId:886 HGNC:13444 "ENST00000359271.4|NM_030777.4" HGNC:13444 +HGNC:14239 SLC2A11 solute carrier family 2 member 11 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "GLUT11|GLUT10" solute carrier family 2 (facilitated glucose transporter), member 11 Solute carriers 752 2001-02-14 2016-02-17 2016-02-17 66035 ENSG00000133460 OTTHUMG00000166469 uc002zyn.6 AJ271290 NM_030807 "CCDS13818|CCDS74828|CCDS33616|CCDS46673" Q9BYW1 610367 SLC2A11 objectId:883 HGNC:14239 "ENST00000316185.9|NM_001024939.4" +HGNC:18067 SLC2A12 solute carrier family 2 member 12 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "GLUT12|GLUT8" solute carrier family 2 (facilitated glucose transporter), member 12 Solute carriers 752 2002-01-24 2016-02-17 2016-02-17 154091 ENSG00000146411 OTTHUMG00000015611 uc003qem.2 AL035699 NM_145176 CCDS5169 Q8TD20 "11780753|11832379" MGI:3052471 RGD:1310175 610372 SLC2A12 objectId:887 HGNC:18067 "ENST00000275230.6|NM_145176.3" +HGNC:15956 SLC2A13 solute carrier family 2 member 13 protein-coding gene gene with protein product Approved 12q12 12q12 HMIT H(+)-myo-inositol symporter solute carrier family 2 (facilitated glucose transporter), member 13 Solute carriers 752 2001-11-02 2016-02-17 2016-02-17 114134 ENSG00000151229 OTTHUMG00000059743 uc010skm.2 AJ315644 NM_052885 CCDS8736 Q96QE2 11500374 MGI:2146030 RGD:621814 611036 SLC2A13 objectId:888 HGNC:15956 "ENST00000280871.9|NM_052885.4" +HGNC:48929 SLC2A13P1 SLC2A13 pseudogene 1 pseudogene pseudogene Approved 8q12.1 08q12.1 2013-07-15 2013-07-15 106480239 ENSG00000254954 OTTHUMG00000165324 NG_043800 PGOHUM00000249685 HGNC:48929 +HGNC:18301 SLC2A14 solute carrier family 2 member 14 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 GLUT14 SLC2A3P3 "solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3|solute carrier family 2 (facilitated glucose transporter), member 14" Solute carriers 752 2003-03-05 2016-02-17 2016-02-17 144195 ENSG00000173262 OTTHUMG00000168463 uc001qtk.5 AF481878 NM_153449 "CCDS8585|CCDS66300|CCDS66302|CCDS66301" Q8TDB8 12504846 MGI:95757 611039 SLC2A14 objectId:879 HGNC:18301 "ENST00000431042.7|NM_001286234.2" +HGNC:31077 SLC2AXP1 solute carrier family 2 pseudogene 1 pseudogene pseudogene Approved 2q11.1 02q11.1 solute carrier family 2 (facilitated glucose transporter), pseudogene 1 2004-01-26 2016-02-17 2016-02-17 399496 ENSG00000275768 OTTHUMG00000187613 AC026626 NG_011411.1 11882521 SLC2AXP1 PGOHUM00000298016 HGNC:31077 +HGNC:11025 SLC3A1 solute carrier family 3 member 1 protein-coding gene gene with protein product Approved 2p21 02p21 "CSNU1|D2H|RBAT|ATR1|NBAT" "solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1|solute carrier family 3 (amino acid transporter heavy chain), member 1" Solute carriers 752 1993-12-16 2016-02-17 2016-10-05 6519 ENSG00000138079 OTTHUMG00000128759 uc002ruc.5 NM_000341 CCDS1819 Q07837 "8486766|9186880" MGI:1195264 RGD:3709 104614 SLC3A1 123426 objectId:889 HGNC:11025 "ENST00000260649.11|NM_000341.4" HGNC:11025 +HGNC:11026 SLC3A2 solute carrier family 3 member 2 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "4T2HC|4F2|NACAE|CD98|CD98HC|4F2HC" "antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43|antigen defined by monoclonal antibody 4F2|heavy chain|4F2 heavy chain|CD98 heavy chain|monoclonal antibody 44D7|4F2 cell-surface antigen heavy chain|lymphocyte activation antigen 4F2 large subunit" MDU1 "solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2|solute carrier family 3 (amino acid transporter heavy chain), member 2" Solute carriers 752 1994-02-15 2016-02-17 2016-02-17 6520 ENSG00000168003 OTTHUMG00000074091 uc001nwf.4 NM_001012661 "CCDS31590|CCDS8039|CCDS31588|CCDS31589" P08195 3036867 MGI:96955 RGD:3073 158070 SLC3A2 471086 objectId:890 HGNC:11026 "ENST00000338663.12|NM_001013251.3" +HGNC:11027 SLC4A1 solute carrier family 4 member 1 (Diego blood group) protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "RTA1A|CD233|FR|SW|WR" "Froese blood group|Swann blood group|Wright blood group" "EPB3|AE1|DI|WD" "Waldner blood group|erythrocyte membrane protein band 3|Diego blood group|solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)|solute carrier family 4 (anion exchanger), member 1|solute carrier family 4 (anion exchanger), member 1 (Diego blood group)" "Blood group antigens|CD molecules|Solute carriers" "454|471|752" 1988-04-20 2016-02-17 2021-04-13 6521 ENSG00000004939 OTTHUMG00000156843 uc002igf.5 NM_000342 CCDS11481 P02730 8434259 MGI:109393 RGD:3710 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_803|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_803.xml" 109270 SLC4A1 119669 objectId:904 CD233 HGNC:11027 "ENST00000262418.12|NM_000342.4" HGNC:11027 +HGNC:13813 SLC4A1AP solute carrier family 4 member 1 adaptor protein protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "kanadaptin|HLC3" lung cancer oncogene 3 "solute carrier family 4 (anion exchanger), member 1, adapter protein|solute carrier family 4 (anion exchanger), member 1, adaptor protein" 2000-11-09 2016-02-17 2016-02-17 22950 ENSG00000163798 OTTHUMG00000151944 uc061hrh.1 NM_018158 CCDS33166 Q9BWU0 9422766 MGI:1196608 RGD:1307080 602655 HGNC:13813 +HGNC:49811 SLC4A1APP1 solute carrier family 4 member 1 adaptor protein pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 solute carrier family 4 (anion exchanger), member 1, adaptor protein pseudogene 1 2014-03-06 2016-02-17 2016-02-17 100288436 ENSG00000232060 OTTHUMG00000019728 NG_021610 PGOHUM00000236000 HGNC:49811 +HGNC:49812 SLC4A1APP2 solute carrier family 4 member 1 adaptor protein pseudogene 2 pseudogene pseudogene Approved 1q31.1 01q31.1 solute carrier family 4 (anion exchanger), member 1, adaptor protein pseudogene 2 2014-03-06 2016-02-17 2016-02-17 100422527 ENSG00000236401 OTTHUMG00000035625 NG_027181 PGOHUM00000245127 HGNC:49812 +HGNC:11028 SLC4A2 solute carrier family 4 member 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HKB3|BND3L|NBND3" "anion exchanger 2 type a|anion exchanger 2 type b1|anion exchanger 2 type b2" "EPB3L1|AE2" "erythrocyte membrane protein band 3-like 1|solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)|solute carrier family 4 (anion exchanger), member 2" Solute carriers 752 1986-01-01 2016-02-17 2016-02-17 6522 ENSG00000164889 OTTHUMG00000158443 uc022apz.2 NM_003040 "CCDS56520|CCDS56521|CCDS5917" P04920 8434259 MGI:109351 RGD:3711 109280 SLC4A2 471092 objectId:905 HGNC:11028 "ENST00000413384.7|NM_003040.4" +HGNC:11029 SLC4A3 solute carrier family 4 member 3 protein-coding gene gene with protein product Approved 2q35 02q35 "AE3|SLC2C" Anion exchanger 3, neuronal "solute carrier family 4, anion exchanger, member 3|solute carrier family 4 (anion exchanger), member 3" Solute carriers 752 1994-08-10 2016-02-17 2016-02-17 6508 ENSG00000114923 OTTHUMG00000059238 uc002vmo.5 NM_005070 "CCDS2446|CCDS2445" P48751 8001971 MGI:109350 RGD:3712 106195 SLC4A3 objectId:906 HGNC:11029 "ENST00000358055.8|NM_005070.4" HGNC:11029 +HGNC:11030 SLC4A4 solute carrier family 4 member 4 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "NBC1|HNBC1|NBC2|pNBC|hhNMC" SLC4A5 "solute carrier family 4, sodium bicarbonate cotransporter, member 4|solute carrier family 4 (sodium bicarbonate cotransporter), member 4" Solute carriers 752 1998-12-11 2016-02-17 2016-02-17 8671 ENSG00000080493 OTTHUMG00000129907 uc003hfy.4 AF007216 NM_003759 "CCDS3549|CCDS47071|CCDS43236" Q9Y6R1 "9235899|9651366" MGI:1927555 RGD:68936 603345 SLC4A4 119685 objectId:908 HGNC:11030 "ENST00000264485.11|NM_001098484.3" HGNC:11030 +HGNC:18168 SLC4A5 solute carrier family 4 member 5 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 NBC4 "solute carrier family 4, sodium bicarbonate cotransporter, member 5|solute carrier family 4 (sodium bicarbonate cotransporter), member 5" Solute carriers 752 2002-03-06 2016-02-17 2016-02-17 57835 ENSG00000188687 OTTHUMG00000090263 uc061ktd.1 AF243499 NM_001386136 "CCDS1937|CCDS1936" Q9BY07 "10978526|11087115" MGI:2443220 RGD:1303009 606757 SLC4A5 objectId:909 HGNC:18168 +HGNC:11033 SLC4A7 solute carrier family 4 member 7 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 "NBC3|SBC2" SLC4A6 solute carrier family 4, sodium bicarbonate cotransporter, member 7 Solute carriers 752 1999-04-16 2016-02-17 2016-02-17 9497 ENSG00000033867 OTTHUMG00000155679 uc011axa.4 AB012130 NM_003615 "CCDS58819|CCDS82747|CCDS82748|CCDS82749|CCDS82750|CCDS82751|CCDS33721|CCDS58820" Q9Y6M7 "10198178|9610397" MGI:2443878 RGD:621208 603353 SLC4A7 objectId:910 HGNC:11033 "ENST00000454389.6|NM_001321103.2" HGNC:11033 +HGNC:11034 SLC4A8 solute carrier family 4 member 8 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 NBC3 solute carrier family 4, sodium bicarbonate cotransporter, member 8 Solute carriers 752 1999-04-16 2016-02-17 2016-02-17 9498 ENSG00000050438 OTTHUMG00000169489 uc001rys.3 AB018282 NM_004858 "CCDS44890|CCDS58232|CCDS73470|CCDS58233" Q2Y0W8 11133997 MGI:1928745 RGD:735164 605024 SLC4A8 objectId:912 HGNC:11034 "ENST00000453097.7|NM_001039960.3" HGNC:11034 +HGNC:55259 SLC4A8-AS1 SLC4A8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Antisense RNAs 1987 2020-09-25 2020-09-25 107984508 ENSG00000271065 XR_001749147 +HGNC:11035 SLC4A9 solute carrier family 4 member 9 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 AE4 solute carrier family 4, sodium bicarbonate cotransporter, member 9 Solute carriers 752 1999-12-16 2016-02-17 2016-02-17 83697 ENSG00000113073 OTTHUMG00000163352 uc003lfl.3 AF313465 NM_031467 "CCDS58975|CCDS47278|CCDS58974|CCDS58973" Q96Q91 11305939 MGI:2443384 RGD:628811 610207 SLC4A9 objectId:907 HGNC:11035 "ENST00000506757.7|NM_031467.3" +HGNC:13811 SLC4A10 solute carrier family 4 member 10 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "NBCn2|NCBE" "solute carrier family 4, sodium bicarbonate transporter-like, member 10|solute carrier family 4, sodium bicarbonate transporter, member 10" Solute carriers 752 2000-11-09 2016-02-17 2016-02-17 57282 ENSG00000144290 OTTHUMG00000153938 uc002uby.5 NM_022058 "CCDS86888|CCDS54411|CCDS54412|CCDS46438" Q6U841 "10964153|18319254" MGI:2150150 RGD:631407 605556 SLC4A10 471090 objectId:911 HGNC:13811 "ENST00000446997.6|NM_001178015.2" +HGNC:16438 SLC4A11 solute carrier family 4 member 11 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ794I6.2|BTR1|NaBC1|FECD4" "CHED2|CDPD1" "corneal endothelial dystrophy 2 (autosomal recessive)|solute carrier family 4, sodium bicarbonate transporter-like, member 11|corneal dystrophy and perceptive deafness 1|solute carrier family 4, sodium borate transporter, member 11" Solute carriers 752 2001-11-02 2016-02-17 2016-02-17 83959 ENSG00000088836 OTTHUMG00000031740 uc002wig.3 AF336127 NM_001174089 "CCDS54445|CCDS13052|CCDS54446|CCDS86932" Q8NBS3 "10843999|11302728|16767101" MGI:2138987 RGD:1310188 610206 SLC4A11 119680 objectId:913 HGNC:16438 "ENST00000642402.1|NM_001174089.2" HGNC:16438 +HGNC:11036 SLC5A1 solute carrier family 5 member 1 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "D22S675|NAGT" sodium/glucose cotransporter 1 SGLT1 solute carrier family 5 (sodium/glucose cotransporter), member 1 Solute carriers 752 1988-08-05 2016-02-17 2016-02-17 6523 ENSG00000100170 OTTHUMG00000030768 uc003amc.4 NM_000343 "CCDS58805|CCDS13902" P13866 8195156 MGI:107678 RGD:3713 182380 SLC5A1 119693 objectId:915 HGNC:11036 "ENST00000266088.9|NM_000343.4" HGNC:11036 +HGNC:11037 SLC5A2 solute carrier family 5 member 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 SGLT2 solute carrier family 5 (sodium/glucose cotransporter), member 2 Solute carriers 752 1993-08-24 2016-02-17 2016-02-17 6524 ENSG00000140675 OTTHUMG00000176620 uc002ecf.5 NM_003041 CCDS10714 P31639 8244402 MGI:2181411 RGD:620217 182381 SLC5A2 119697 objectId:916 HGNC:11037 "ENST00000330498.4|NM_003041.4" HGNC:11037 +HGNC:11038 SLC5A3 solute carrier family 5 member 3 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "SMIT|SMIT1" "solute carrier family 5 (inositol transporter), member 3|solute carrier family 5 (sodium/myo-inositol cotransporter), member 3" Solute carriers 752 1994-02-15 2016-02-17 2016-02-17 6526 ENSG00000198743 OTTHUMG00000065821 uc002yto.4 NM_006933 CCDS33549 P53794 7789985 MGI:1858226 RGD:621530 600444 SLC5A3 objectId:924 HGNC:11038 "ENST00000381151.5|NM_006933.7" +HGNC:11039 SLC5A4 solute carrier family 5 member 4 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "SAAT1|SGLT3|DJ90G24.4" "solute carrier family 5 (low affinity glucose cotransporter), member 4|solute carrier family 5 (glucose activated ion channel), member 4" Solute carriers 752 1994-02-15 2016-02-17 2016-02-17 6527 ENSG00000100191 OTTHUMG00000150007 uc003ami.4 U41897 NM_014227 CCDS13903 Q9NY91 "9501190|12354616" MGI:1927848 RGD:1306923 618633 SLC5A4 objectId:917 HGNC:11039 "ENST00000266086.6|NM_014227.3" +HGNC:53163 SLC5A4-AS1 SLC5A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 RP1-90G24.10 Antisense RNAs 1987 2017-03-03 2021-06-24 110806273 ENSG00000242082 OTTHUMG00000150008 NR_149072 27727196 HGNC:53163 +HGNC:45041 SLC5A4P1 solute carrier family 5 member 4 pseudogene 1 pseudogene pseudogene Approved 11q24.2 11q24.2 "solute carrier family 5 (low affinity glucose cotransporter), member 4 pseudogene 1|solute carrier family 5 (glucose activated ion channel), member 4 pseudogene 1" 2013-01-25 2016-02-17 2016-02-17 100422550 ENSG00000255116 OTTHUMG00000165976 NG_024564 PGOHUM00000242921 HGNC:45041 +HGNC:11040 SLC5A5 solute carrier family 5 member 5 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 NIS "solute carrier family 5 (sodium iodide symporter), member 5|solute carrier family 5 (sodium/iodide cotransporter), member 5" Solute carriers 752 1997-04-16 2016-02-17 2016-02-17 6528 ENSG00000105641 OTTHUMG00000183447 uc002nhr.4 NM_000453 CCDS12368 Q92911 9231811 MGI:2149330 RGD:69267 601843 SLC5A5 119700 objectId:920 HGNC:11040 "ENST00000222248.4|NM_000453.3" HGNC:11040 +HGNC:11041 SLC5A6 solute carrier family 5 member 6 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 SMVT "solute carrier family 5 (sodium-dependent vitamin transporter), member 6|solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6" Solute carriers 752 1999-01-19 2016-02-17 2016-10-05 8884 ENSG00000138074 OTTHUMG00000097075 uc002rjd.4 AF069307 NM_021095 CCDS1740 Q9Y289 "9516450|10329687" MGI:2660847 RGD:69648 604024 SLC5A6 objectId:921 HGNC:11041 "ENST00000310574.8|NM_021095.4" HGNC:11041 +HGNC:14025 SLC5A7 solute carrier family 5 member 7 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "hCHT|CHT1" "solute carrier family 5 (choline transporter), member 7|solute carrier family 5 (sodium/choline cotransporter), member 7" Solute carriers 752 2000-11-27 2016-02-17 2016-10-05 60482 ENSG00000115665 OTTHUMG00000130959 uc002tdv.4 AF276871 NM_001305005 CCDS2074 Q9GZV3 11027560 MGI:1927126 RGD:69270 608761 SLC5A7 320785 objectId:914 HGNC:14025 "ENST00000264047.3|NM_021815.5" HGNC:14025 +HGNC:19119 SLC5A8 solute carrier family 5 member 8 protein-coding gene gene with protein product Approved 12q23.1-q23.2 12q23.1-q23.2 AIT "solute carrier family 5 (iodide transporter), member 8|solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8" Solute carriers 752 2003-05-12 2016-02-17 2018-02-13 160728 ENSG00000256870 OTTHUMG00000170499 uc001thz.5 AY081220 NM_145913 CCDS9080 Q8N695 "12107270|12829793" MGI:2384916 RGD:1564146 608044 SLC5A8 471094 objectId:922 HGNC:19119 "ENST00000536262.3|NM_145913.5" +HGNC:22146 SLC5A9 solute carrier family 5 member 9 protein-coding gene gene with protein product Approved 1p33 01p33 SGLT4 "solute carrier family 5 (sodium/glucose cotransporter), member 9|solute carrier family 5 (sodium/sugar cotransporter), member 9" Solute carriers 752 2004-03-11 2016-02-17 2018-11-19 200010 ENSG00000117834 OTTHUMG00000007959 uc001crn.3 BX648549 NM_001135181 "CCDS30709|CCDS44136" Q2M3M2 MGI:2140201 RGD:1311383 SLC5A9 objectId:918 HGNC:22146 "ENST00000438567.7|NM_001011547.3" +HGNC:23155 SLC5A10 solute carrier family 5 member 10 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 SGLT5 "solute carrier family 5 (sodium/glucose cotransporter), member 10|solute carrier family 5 (sodium/sugar cotransporter), member 10" Solute carriers 752 2004-01-28 2016-02-17 2016-02-17 125206 ENSG00000154025 OTTHUMG00000178143 uc002guu.3 NM_152351 "CCDS59277|CCDS11201|CCDS74008|CCDS42275|CCDS59278" A0PJK1 MGI:1926089 RGD:1305232 618636 SLC5A10 objectId:919 HGNC:23155 "ENST00000395645.4|NM_001042450.4" +HGNC:23091 SLC5A11 solute carrier family 5 member 11 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "KST1|SMIT2|SGLT6" "solute carrier family 5 (sodium/glucose cotransporter), member 11|solute carrier family 5 (sodium/inositol cotransporter), member 11" Solute carriers 752 2004-03-23 2016-02-17 2016-02-17 115584 ENSG00000158865 OTTHUMG00000097003 uc002dmu.5 AF292385 NM_052944 "CCDS58438|CCDS58440|CCDS58439|CCDS10625|CCDS58437" Q8WWX8 "12039040|12133831" MGI:1919316 RGD:621410 610238 SLC5A11 objectId:925 HGNC:23091 +HGNC:28750 SLC5A12 solute carrier family 5 member 12 protein-coding gene gene with protein product Approved 11p14.2 11p14.2 "MGC52019|SMCT2" "solute carrier family 5 (sodium/glucose cotransporter), member 12|solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12" Solute carriers 752 2004-09-01 2016-02-17 2019-03-19 159963 ENSG00000148942 OTTHUMG00000150706 uc001mra.3 BC049207 NM_178498 CCDS7860 Q1EHB4 17692818 MGI:2138890 RGD:1311652 612455 SLC5A12 objectId:923 HGNC:28750 "ENST00000396005.8|NM_178498.4" +HGNC:11042 SLC6A1 solute carrier family 6 member 1 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "GAT1|GABATR|GABATHG" GABA transporter 1 "solute carrier family 6 (neurotransmitter transporter, GABA), member 1|solute carrier family 6 (neurotransmitter transporter), member 1" Solute carriers 752 1994-02-16 2016-02-17 2016-02-17 6529 ENSG00000157103 OTTHUMG00000044208 uc010hdq.4 NM_003042 "CCDS2603|CCDS87043|CCDS87044" P30531 8530094 MGI:95627 RGD:620533 137165 SLC6A1 431886 objectId:929 HGNC:11042 "ENST00000287766.10|NM_003042.4" HGNC:11042 +HGNC:40546 SLC6A1-AS1 SLC6A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SLC6A1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874090 ENSG00000232287 OTTHUMG00000155456 uc031ryk.1 NR_046647 SLC6A1-AS1 HGNC:40546 +HGNC:11048 SLC6A2 solute carrier family 6 member 2 protein-coding gene gene with protein product Approved 16q12.2 16q12.2 NET norepinephrine transporter "NET1|NAT1|SLC6A5" "solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2|solute carrier family 6 (neurotransmitter transporter), member 2" Solute carriers 752 1994-03-16 2016-02-17 2017-07-07 6530 ENSG00000103546 OTTHUMG00000133208 uc002eig.3 NM_001043 "CCDS10754|CCDS54011|CCDS58463" P23975 2008212 MGI:1270850 RGD:621822 163970 SLC6A2 449814 objectId:926 HGNC:11048 "ENST00000568943.6|NM_001172501.3" HGNC:11048 +HGNC:11049 SLC6A3 solute carrier family 6 member 3 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 DAT dopamine transporter DAT1 "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3|dopamine transporter 1|solute carrier family 6 (neurotransmitter transporter), member 3" Solute carriers 752 1994-03-16 2016-02-17 2016-10-05 6531 ENSG00000142319 OTTHUMG00000131016 uc003jck.4 NM_001044 CCDS3863 Q01959 1406597 MGI:94862 RGD:3715 LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SLC6A3 126455 SLC6A3 244693 objectId:927 HGNC:11049 "ENST00000270349.12|NM_001044.5" HGNC:11049 +HGNC:11050 SLC6A4 solute carrier family 6 member 4 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "5-HTT|SERT1" serotonin transporter 1 "HTT|OCD1" "solute carrier family 6 (neurotransmitter transporter, serotonin), member 4|5-hydroxytryptamine (serotonin) transporter|obsessive-compulsive disorder 1|solute carrier family 6 (neurotransmitter transporter), member 4" Solute carriers 752 1994-03-16 2016-02-17 2016-02-17 6532 ENSG00000108576 OTTHUMG00000132751 uc060dmn.1 L05568 NM_001045 CCDS11256 P31645 "7681602|19806148" MGI:96285 RGD:3714 182138 SLC6A4 471098 objectId:928 HGNC:11050 "ENST00000650711.1|NM_001045.6" HGNC:11050 +HGNC:11051 SLC6A5 solute carrier family 6 member 5 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 GLYT2 glycine transporter 2 NET1 "solute carrier family 6 (neurotransmitter transporter, glycine), member 5|solute carrier family 6 (neurotransmitter transporter), member 5" Solute carriers 752 1997-12-05 2016-02-17 2016-02-17 9152 ENSG00000165970 OTTHUMG00000166024 uc001mqd.4 AF085412 NM_004211 CCDS7854 Q9Y345 9845349 MGI:105090 RGD:621824 LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SLC6A5 604159 SLC6A5 158412 objectId:936 HGNC:11051 "ENST00000525748.6|NM_004211.5" HGNC:11051 +HGNC:11052 SLC6A6 solute carrier family 6 member 6 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 TAUT taurine transporter "solute carrier family 6 (neurotransmitter transporter, taurine), member 6|solute carrier family 6 (neurotransmitter transporter), member 6" Solute carriers 752 1994-05-25 2016-02-17 2016-02-17 6533 ENSG00000131389 OTTHUMG00000155525 uc032rfg.2 NM_003043 "CCDS77704|CCDS46765|CCDS33705" P31641 "8010975|8382624" MGI:98488 RGD:61912 186854 SLC6A6 objectId:933 HGNC:11052 "ENST00000622186.5|NM_003043.6" +HGNC:11053 SLC6A6P1 solute carrier family 6 member 6 pseudogene 1 pseudogene pseudogene Approved 21q21.1 21q21.1 SLC6A6P "solute carrier family 6, member 6 pseudogene|solute carrier family 6, member 6 pseudogene 1" 2000-05-23 2010-02-24 2015-12-04 2015-12-04 54019 ENSG00000226818 OTTHUMG00000074547 NG_000901 SLC6A6P1 PGOHUM00000239149 HGNC:11053 +HGNC:11054 SLC6A7 solute carrier family 6 member 7 protein-coding gene gene with protein product Approved 5q32 05q32 PROT "brain-specific L-proline transporter|sodium-dependent proline transporter" "solute carrier family 6 (neurotransmitter transporter, L-proline), member 7|solute carrier family 6 (neurotransmitter transporter), member 7" Solute carriers 752 1994-03-16 2016-02-17 2016-02-17 6534 ENSG00000011083 OTTHUMG00000130046 uc003lrr.3 S80071 NM_014228 CCDS4305 Q99884 7651355 MGI:2147363 RGD:620928 606205 SLC6A7 objectId:938 HGNC:11054 "ENST00000230671.7|NM_014228.5" +HGNC:11055 SLC6A8 solute carrier family 6 member 8 protein-coding gene gene with protein product Approved Xq28 Xq28 "CRTR|CT1" creatine transporter "solute carrier family 6 (neurotransmitter transporter, creatine), member 8|solute carrier family 6 (neurotransmitter transporter), member 8" Solute carriers 752 1994-12-19 2016-02-17 2020-04-02 6535 ENSG00000130821 OTTHUMG00000024208 uc004fib.4 NM_001142805 "CCDS14726|CCDS48190" P48029 7774949 MGI:2147834 RGD:619711 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC6A8|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC6A8" 300036 SLC6A8 119705 objectId:934 HGNC:11055 "ENST00000253122.10|NM_005629.4" HGNC:11055 +HGNC:11056 SLC6A9 solute carrier family 6 member 9 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 GLYT1 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 Solute carriers 752 1995-10-02 2016-02-17 2016-10-05 6536 ENSG00000196517 OTTHUMG00000008294 uc001cln.5 S70609 NM_201649 "CCDS41317|CCDS41316|CCDS85966|CCDS30695" P48067 "8183239|7587377" MGI:95760 RGD:621243 601019 SLC6A9 objectId:935 HGNC:11056 "ENST00000372310.8|NM_001024845.3" HGNC:11056 +HGNC:11043 SLC6A10P solute carrier family 6 member 10, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 CT-2 creatine transporter-2 SLC6A10 "solute carrier family 6 (neurotransmitter transporter, creatine), member 10|solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene" Solute carriers 752 1996-03-14 2013-07-19 2016-02-17 2016-02-17 386757 ENSG00000214617 OTTHUMG00000132481 U41163 NR_003083 9154116 SLC6A10P PGOHUM00000262930 HGNC:11043 +HGNC:11044 SLC6A11 solute carrier family 6 member 11 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 GAT3 GABA transporter 3 "solute carrier family 6 (neurotransmitter transporter, GABA), member 11|solute carrier family 6 (neurotransmitter transporter), member 11" Solute carriers 752 1997-12-05 2016-02-17 2016-02-17 6538 ENSG00000132164 OTTHUMG00000129718 uc003bvz.4 S75989 NM_014229 "CCDS2602|CCDS82734" P48066 7874447 MGI:95630 RGD:628737 607952 SLC6A11 objectId:931 HGNC:11044 "ENST00000254488.7|NM_014229.3" +HGNC:11045 SLC6A12 solute carrier family 6 member 12 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 BGT-1 betaine/GABA transporter-1 "solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12|solute carrier family 6 (neurotransmitter transporter), member 12" Solute carriers 752 1997-12-09 2016-02-17 2016-10-05 6539 ENSG00000111181 OTTHUMG00000090309 uc001qia.3 L42300 NM_003044 CCDS8501 P48065 7589472 MGI:95628 RGD:620255 603080 SLC6A12 objectId:932 HGNC:11045 "ENST00000684302.1|NM_001122848.3" +HGNC:40548 SLC6A12-AS1 SLC6A12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 Antisense RNAs 1987 2020-03-26 2020-03-26 101929384 ENSG00000256577 OTTHUMG00000168005 NR_120475 +HGNC:11046 SLC6A13 solute carrier family 6 member 13 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 GAT2 GABA transporter 2 "solute carrier family 6 (neurotransmitter transporter, GABA), member 13|solute carrier family 6 (neurotransmitter transporter), member 13" Solute carriers 752 1997-12-09 2016-02-17 2016-02-17 6540 ENSG00000010379 OTTHUMG00000168053 uc001qic.3 U76343 NM_016615 "CCDS8502|CCDS58198|CCDS53729" Q9NSD5 MGI:95629 RGD:620788 615097 SLC6A13 objectId:930 HGNC:11046 "ENST00000343164.9|NM_016615.5" +HGNC:11047 SLC6A14 solute carrier family 6 member 14 protein-coding gene gene with protein product Approved Xq23 Xq23 "solute carrier family 6 (neurotransmitter transporter), member 14|solute carrier family 6 (amino acid transporter), member 14" Solute carriers 752 2000-07-31 2016-02-17 2020-04-02 11254 ENSG00000268104 OTTHUMG00000022245 uc033eru.2 AF151978 NM_007231 CCDS14570 Q9UN76 10446133 MGI:1890216 RGD:1561810 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC6A14 300444 SLC6A14 471096 objectId:937 HGNC:11047 "ENST00000598581.3|NM_007231.5" +HGNC:54529 SLC6A14P1 SLC6A14 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2019-10-11 2019-10-11 100422432 ENSG00000236077 NG_026753 HGNC:54529 +HGNC:54530 SLC6A14P2 SLC6A14 pseudogene 2 pseudogene pseudogene Approved Xq23 Xq23 2019-10-11 2019-10-11 100462652 ENSG00000237860 NG_021283 HGNC:54530 +HGNC:54531 SLC6A14P3 SLC6A14 pseudogene 3 pseudogene pseudogene Approved 2q14.3 02q14.3 2019-10-11 2019-10-11 100422417 ENSG00000236655 NG_023602 HGNC:54531 +HGNC:13621 SLC6A15 solute carrier family 6 member 15 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 "hv7-3|NTT73|FLJ10316|V7-3|SBAT1" "homolog of rat orphan transporter v7-3|sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7" "solute carrier family 6 (neurotransmitter transporter), member 15|solute carrier family 6 (neutral amino acid transporter), member 15" Solute carriers 752 2000-09-27 2016-02-17 2016-02-17 55117 ENSG00000072041 OTTHUMG00000169742 uc001szv.5 AF265577 "NM_018057|NM_182767" "CCDS9027|CCDS53816|CCDS9026" Q9H2J7 "10471414|11112352|16185194" MGI:2143484 RGD:628664 607971 SLC6A15 objectId:940 HGNC:13621 "ENST00000266682.10|NM_182767.6" +HGNC:13622 SLC6A16 solute carrier family 6 member 16 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 NTT5 NTT5 protein "solute carrier family 6 (neurotransmitter transporter), member 16|solute carrier family 6, member 16" "Solute carriers|MicroRNA protein coding host genes" "752|1691" 2000-09-27 2015-12-04 2015-12-04 28968 ENSG00000063127 OTTHUMG00000183179 uc002pmz.4 AF265578 NM_014037 CCDS42590 Q9GZN6 "10471414|11112352" MGI:2685930 RGD:1561338 607972 SLC6A16 objectId:942 HGNC:13622 "ENST00000335875.9|NM_014037.3" +HGNC:31399 SLC6A17 solute carrier family 6 member 17 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "solute carrier family 6 (neurotransmitter transporter), member 17|solute carrier family 6, member 17|solute carrier family 6 (neutral amino acid transporter), member 17" Solute carriers 752 2004-04-02 2016-02-17 2018-11-19 388662 ENSG00000197106 OTTHUMG00000011761 uc009wfq.4 NM_001010898 CCDS30799 Q9H1V8 MGI:2442535 RGD:1587185 610299 SLC6A17 423450 objectId:943 HGNC:31399 "ENST00000331565.5|NM_001010898.4" HGNC:31399 +HGNC:41279 SLC6A17-AS1 SLC6A17 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Antisense RNAs 1987 2020-03-26 2020-03-26 105378897 ENSG00000227091 OTTHUMG00000011762 XR_947695 +HGNC:26441 SLC6A18 solute carrier family 6 member 18 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "FLJ31236|Xtrp2" "solute carrier family 6 (neurotransmitter transporter), member 18|solute carrier family 6, member 18|solute carrier family 6 (neutral amino acid transporter), member 18" Solute carriers 752 2004-04-02 2016-02-17 2016-10-05 348932 ENSG00000164363 OTTHUMG00000090356 uc003jby.2 AK055798 NM_182632 CCDS3860 Q96N87 19478081 MGI:1336892 RGD:69352 610300 SLC6A18 173509 objectId:941 HGNC:26441 "ENST00000324642.4|NM_182632.3" +HGNC:27960 SLC6A19 solute carrier family 6 member 19 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 Hartnup disease solute carrier family 6 (neutral amino acid transporter), member 19 Solute carriers 752 2004-04-02 2016-02-17 2018-11-19 340024 ENSG00000174358 OTTHUMG00000161636 uc003jbw.5 AK096054 NM_001003841 CCDS34130 Q695T7 MGI:1921588 RGD:1594328 608893 SLC6A19 119703 objectId:939 HGNC:27960 "ENST00000304460.11|NM_001003841.3" HGNC:27960 +HGNC:30927 SLC6A20 solute carrier family 6 member 20 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "XT3|Xtrp3|SIT1|IMINO" sodium-dependent imino acid transporter 1 solute carrier family 6 (proline IMINO transporter), member 20 Solute carriers 752 2004-04-02 2016-02-17 2020-06-09 54716 ENSG00000163817 OTTHUMG00000133446 uc011bai.3 AF075260 NM_020208 "CCDS2730|CCDS43077" Q9NP91 "9932288|11352561" "MGI:1336891|MGI:2143217" RGD:621651 605616 SLC6A20 173505 objectId:944 HGNC:30927 "ENST00000358525.9|NM_020208.4" HGNC:30927 +HGNC:31400 SLC6A21P solute carrier family 6 member 21, pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 SLC6A21 "solute carrier family 6 (neurotransmitter transporter), member 21|solute carrier family 6 (neurotransmitter transporter), member 21, pseudogene|solute carrier family 6, member 21, pseudogene" Solute carriers 752 2005-12-07 2006-05-10 2015-12-04 2016-07-25 652969 ENSG00000269009 OTTHUMG00000183204 AC008891.7 NG_009578 16125675 MGI:1923963 SLC6A21P PGOHUM00000295061 HGNC:31400 +HGNC:11057 SLC7A1 solute carrier family 7 member 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "CAT-1|HCAT1|REC1L" "ecotropic retroviral receptor|amino acid transporter, cationic 1" "ERR|ATRC1" solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 Solute carriers 752 1994-02-16 2016-02-17 2016-02-17 6541 ENSG00000139514 OTTHUMG00000016658 uc001uso.4 AF078107 NM_003045 CCDS9333 P30825 1348489 MGI:88117 RGD:3716 104615 SLC7A1 471100 objectId:891 HGNC:11057 "ENST00000380752.10|NM_003045.5" +HGNC:11060 SLC7A2 solute carrier family 7 member 2 protein-coding gene gene with protein product Approved 8p22 08p22 "CAT-2|HCAT2" ATRC2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 Solute carriers 752 1996-11-15 2016-02-17 2016-02-17 6542 ENSG00000003989 OTTHUMG00000130819 uc064kns.1 D29990 NM_003046 "CCDS6002|CCDS55203|CCDS34852" P52569 8954799 MGI:99828 RGD:68387 601872 SLC7A2 objectId:892 HGNC:11060 "ENST00000494857.6|NM_001370338.1" +HGNC:54925 SLC7A2-IT1 SLC7A2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 8p22 08p22 Intronic transcripts 1989 2020-04-29 2020-04-29 ENSG00000279903 AV720089 22411793 +HGNC:11061 SLC7A3 solute carrier family 7 member 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "CAT-3|ATRC3|FLJ14541" solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 Solute carriers 752 1997-12-10 2016-02-17 2020-04-02 84889 ENSG00000165349 OTTHUMG00000021780 uc004dyo.4 AF320612 NM_032803 CCDS14404 Q8WY07 11591158 MGI:1100521 RGD:68342 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC7A3 300443 SLC7A3 objectId:893 HGNC:11061 "ENST00000374299.8|NM_032803.6" HGNC:11061 +HGNC:11062 SLC7A4 solute carrier family 7 member 4 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "HCAT3|CAT-4|VH" "solute carrier family 7 (cationic amino acid transporter, y+ system), member 4|solute carrier family 7 (orphan transporter), member 4|solute carrier family 7, member 4" Solute carriers 752 1997-12-09 2015-12-08 2015-12-08 6545 ENSG00000099960 OTTHUMG00000150896 uc002zud.3 AJ000730 NM_004173 CCDS33608 O43246 "9598310|11665818" MGI:2146512 RGD:1305905 603752 SLC7A4 objectId:894 HGNC:11062 "ENST00000382932.3|NM_004173.3" +HGNC:11063 SLC7A5 solute carrier family 7 member 5 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "LAT1|E16|D16S469E|MPE16|CD98" solute carrier family 7 (amino acid transporter light chain, L system), member 5 "CD molecules|Solute carriers|MicroRNA protein coding host genes" "471|752|1691" 1999-01-28 2016-02-17 2016-10-05 8140 ENSG00000103257 OTTHUMG00000137658 uc002fkm.4 AF077866 NM_003486 CCDS10964 Q01650 "9751058|7829099" MGI:1298205 RGD:620639 600182 SLC7A5 471104 objectId:896 CD98 HGNC:11063 "ENST00000261622.5|NM_003486.7" HGNC:11063 +HGNC:29458 SLC7A5P1 solute carrier family 7 member 5 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 "LAT1-3TM|MLAS" solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 1 2007-01-12 2016-02-17 2021-10-07 81893 ENSG00000260727 OTTHUMG00000176771 NG_046751 Q8MH63 12009310 SLC7A5P1 PGOHUM00000259042 HGNC:29458 +HGNC:24951 SLC7A5P2 solute carrier family 7 member 5 pseudogene 2 pseudogene pseudogene Approved 16p12.2 16p12.2 "IMAA|hLAT1-3TM" solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 2 2010-01-07 2016-02-17 2016-02-17 387254 ENSG00000258186 OTTHUMG00000170388 BC071656 NR_002594.1 Q9GIP4 12009310 SLC7A5P2 PGOHUM00000259021 HGNC:24951 +HGNC:11064 SLC7A6 solute carrier family 7 member 6 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "y+LAT-2|KIAA0245|LAT3|LAT-2" solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 Solute carriers 752 1999-01-28 2016-02-17 2016-02-17 9057 ENSG00000103064 OTTHUMG00000176544 uc002evu.3 D87432 NM_003983 CCDS32470 Q92536 9878049 MGI:2142598 RGD:1309193 605641 SLC7A6 objectId:899 HGNC:11064 "ENST00000219343.11|NM_003983.6" +HGNC:25807 SLC7A6OS solute carrier family 7 member 6 opposite strand protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ13291|Iwr1" solute carrier family 7, member 6 opposite strand 2005-09-01 2015-12-08 2020-03-10 84138 ENSG00000103061 OTTHUMG00000137558 uc002evw.3 NM_032178 CCDS10865 Q96CW6 25803583 MGI:1916951 RGD:708394 619192 HGNC:25807 "ENST00000263997.11|NM_032178.3" HGNC:25807 +HGNC:11065 SLC7A7 solute carrier family 7 member 7 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 y+LAT-1 LPI solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 Solute carriers 752 1999-01-28 2016-02-17 2021-04-13 9056 ENSG00000155465 OTTHUMG00000028692 uc001wgu.5 AF092032 NM_003982 CCDS9574 Q9UM01 9829974 MGI:1337120 RGD:619902 LRG_695|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_695.xml 603593 SLC7A7 119709 objectId:898 HGNC:11065 "ENST00000674313.1|NM_003982.4" HGNC:11065 +HGNC:11066 SLC7A8 solute carrier family 7 member 8 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "LPI-PC1|LAT2" solute carrier family 7 (amino acid transporter light chain, L system), member 8 Solute carriers 752 1999-10-05 2016-02-17 2016-02-17 23428 ENSG00000092068 OTTHUMG00000028720 uc001wiz.5 Y18483 NM_001267036 "CCDS41924|CCDS58305|CCDS58304|CCDS9590" Q9UHI5 "10080183|10391915" MGI:1355323 RGD:619904 604235 SLC7A8 objectId:897 HGNC:11066 "ENST00000316902.12|NM_012244.4" +HGNC:11067 SLC7A9 solute carrier family 7 member 9 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 CSNU3 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 Solute carriers 752 1999-09-16 2016-02-17 2016-02-17 11136 ENSG00000021488 OTTHUMG00000180287 uc002ntu.6 AF141289 NM_001126335 CCDS12425 P82251 10471498 MGI:1353656 RGD:619905 604144 SLC7A9 119713 objectId:900 HGNC:11067 "ENST00000023064.9|NM_014270.5" HGNC:11067 +HGNC:11058 SLC7A10 solute carrier family 7 member 10 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 asc-1 solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 Solute carriers 752 2000-06-02 2016-02-17 2016-02-17 56301 ENSG00000130876 OTTHUMG00000180344 uc002num.2 AB037670 NM_019849 CCDS12431 Q9NS82 "10734121|10863037" MGI:1858261 RGD:621672 607959 SLC7A10 471102 objectId:901 HGNC:11058 "ENST00000253188.8|NM_019849.3" +HGNC:11059 SLC7A11 solute carrier family 7 member 11 protein-coding gene gene with protein product Approved 4q28.3 04q28.3 xCT solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 Solute carriers 752 2000-06-02 2016-02-17 2016-02-17 23657 ENSG00000151012 OTTHUMG00000133396 uc062zqn.1 AB026891 NM_014331 CCDS3742 Q9UPY5 "10206947|12763038" MGI:1347355 RGD:1309275 607933 SLC7A11 objectId:902 HGNC:11059 "ENST00000280612.9|NM_014331.4" +HGNC:44064 SLC7A11-AS1 SLC7A11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 ENST00000512786 SLC7A11 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-30 2012-08-15 2018-08-05 641364 ENSG00000250033 OTTHUMG00000161284 uc003ihi.2 NR_038380 "27816668|29348845" SLC7A11-AS1 HGNC:44064 +HGNC:23092 SLC7A13 solute carrier family 7 member 13 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "AGT-1|XAT2" solute carrier family 7 (anionic amino acid transporter), member 13 Solute carriers 752 2003-09-25 2016-02-17 2016-12-15 157724 ENSG00000164893 OTTHUMG00000163663 uc003ydq.2 AJ417661 NM_138817 CCDS34917 Q8TCU3 "11907033|11943479" MGI:1921337 RGD:1311633 617256 SLC7A13 objectId:903 HGNC:23092 "ENST00000297524.8|NM_138817.3" +HGNC:29326 SLC7A14 solute carrier family 7 member 14 protein-coding gene gene with protein product Approved 3q26.2 03q26.2 "KIAA1613|PPP1R142" protein phosphatase 1, regulatory subunit 142 solute carrier family 7, member 14 "Protein phosphatase 1 regulatory subunits|Solute carriers" "694|752" 2005-06-06 2015-12-08 2015-12-08 57709 ENSG00000013293 OTTHUMG00000158941 uc003fgz.3 BC022968 NM_020949 CCDS33892 Q8TBB6 MGI:3040688 RGD:1594375 615720 SLC7A14 401123 objectId:895 HGNC:29326 "ENST00000231706.6|NM_020949.3" HGNC:29326 +HGNC:54092 SLC7A14-AS1 SLC7A14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.2 03q26.2 Antisense RNAs 1987 2018-11-04 2018-11-04 101928583 ENSG00000285051 NR_135555 HGNC:54092 +HGNC:32724 SLC7A15P solute carrier family 7 member 15, pseudogene pseudogene pseudogene Approved 2p24.1 02p24.1 solute carrier family 7, member 15, pseudogene Solute carriers 752 2010-03-12 2015-12-08 2020-08-14 100289450 ENSG00000232800 OTTHUMG00000154621 NG_012112 20210993 MGI:3045351 SLC7A15P HGNC:32724 +HGNC:11068 SLC8A1 solute carrier family 8 member A1 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 Na+/Ca++ exchanger NCX1 solute carrier family 8 (sodium/calcium exchanger), member 1 Solute carriers 752 1991-10-04 2016-02-25 2016-02-25 6546 ENSG00000183023 OTTHUMG00000102183 uc061inr.1 NM_021097 "CCDS59430|CCDS46265|CCDS46264|CCDS1806" P32418 1559714 MGI:107956 RGD:3717 182305 SLC8A1 471106 objectId:945 HGNC:11068 +HGNC:44102 SLC8A1-AS1 SLC8A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p22.1 02p22.1 SLC8A1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2012-10-12 100128590 ENSG00000227028 OTTHUMG00000152308 uc061inb.1 NR_038441 SLC8A1-AS1 HGNC:44102 +HGNC:11069 SLC8A2 solute carrier family 8 member A2 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "NCX2|KIAA1087" solute carrier family 8 (sodium/calcium exchanger), member 2 Solute carriers 752 1994-12-09 2016-02-25 2016-02-25 6543 ENSG00000118160 OTTHUMG00000183529 uc002pgx.4 AB029010 NM_015063 CCDS33065 Q9UPR5 8021246 MGI:107996 RGD:620194 601901 SLC8A2 objectId:946 HGNC:11069 "ENST00000236877.11|NM_015063.3" +HGNC:11070 SLC8A3 solute carrier family 8 member A3 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 NCX3 solute carrier family 8 (sodium/calcium exchanger), member 3 Solute carriers 752 1997-12-09 2016-02-25 2016-10-05 6547 ENSG00000100678 OTTHUMG00000152342 uc001xlz.3 AJ304852 NM_001130417 "CCDS41967|CCDS35498|CCDS9800|CCDS9799|CCDS53904|CCDS45131" P57103 8798769 MGI:107976 RGD:620197 607991 SLC8A3 objectId:947 HGNC:11070 "ENST00000356921.7|NM_182932.3" +HGNC:26175 SLC8B1 solute carrier family 8 member B1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "FLJ22233|NCKX6|NCLX" SLC24A6 "solute carrier family 24 (sodium/potassium/calcium exchanger), member 6|solute carrier family 24 (sodium/lithium/calcium exchanger), member 6|solute carrier family 8 (sodium/lithium/calcium exchanger), member B1" Solute carriers 752 2004-05-05 2013-07-19 2016-02-17 2016-02-17 80024 ENSG00000089060 OTTHUMG00000169566 AK025886 NM_024959 "CCDS81744|CCDS31909" Q6J4K2 "14625281|23506867" MGI:2180781 RGD:1565818 609841 SLC24A6 objectId:1050 HGNC:26175 "ENST00000680972.1|NM_001358345.2" +HGNC:11071 SLC9A1 solute carrier family 9 member A1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 PPP1R143 protein phosphatase 1, regulatory subunit 143 "APNH|NHE1" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)|solute carrier family 9 (sodium/hydrogen exchanger), member 1|solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1" "Protein phosphatase 1 regulatory subunits|Solute carriers" "694|752" 1986-01-01 2016-02-25 2016-10-05 6548 ENSG00000090020 OTTHUMG00000004271 uc001bnm.5 M81768 NM_003047 CCDS295 P19634 8283968 MGI:102462 RGD:3718 107310 SLC9A1 457065 objectId:948 HGNC:11071 "ENST00000263980.8|NM_003047.5" HGNC:11071 +HGNC:11072 SLC9A2 solute carrier family 9 member A2 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 NHE2 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 2|solute carrier family 9 (sodium/hydrogen exchanger), member 2|solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2" Solute carriers 752 1992-06-12 2016-02-25 2016-10-05 6549 ENSG00000115616 OTTHUMG00000130778 uc002tca.4 NM_003048 CCDS2062 Q9UBY0 MGI:105075 RGD:3719 600530 SLC9A2 objectId:949 HGNC:11072 "ENST00000233969.3|NM_003048.6" +HGNC:11073 SLC9A3 solute carrier family 9 member A3 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 NHE3 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3|solute carrier family 9 (sodium/hydrogen exchanger), member 3|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3" Solute carriers 752 1992-06-12 2016-02-25 2016-10-05 6550 ENSG00000066230 OTTHUMG00000090315 uc003jbe.3 NM_004174 "CCDS3855|CCDS64116" P48764 8096830 MGI:105064 RGD:3720 182307 SLC9A3 456093 objectId:950 HGNC:11073 "ENST00000264938.8|NM_004174.4" HGNC:11073 +HGNC:40550 SLC9A3-AS1 SLC9A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 UC011CLY.2 Antisense RNAs 1987 2017-02-16 2017-02-16 100288152 ENSG00000225138 OTTHUMG00000167373 NR_125375 28076325 HGNC:40550 +HGNC:11074 SLC9A3P1 solute carrier family 9 member 3 pseudogene 1 pseudogene pseudogene Approved 10q11.23 10q11.23 "NHE3P|SLC9A3P|SLC9A3P4" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 pseudogene|solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene|solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 1|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 4|solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 4|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 1" 1996-03-13 2010-02-24 2016-02-17 2016-02-17 6551 ENSG00000233011 OTTHUMG00000018226 NG_006095 "8833252|8199403" SLC9A3P1 PGOHUM00000290157 HGNC:11074 +HGNC:19325 SLC9A3P2 solute carrier family 9 member 3 pseudogene 2 pseudogene pseudogene Approved 22q11.21 22q11.21 "solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 2|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 2" 2002-10-03 2016-02-17 2016-02-17 128997 ENSG00000238125 OTTHUMG00000150753 NG_005203 SLC9A3P2 PGOHUM00000246416 HGNC:19325 +HGNC:33492 SLC9A3P3 solute carrier family 9 member 3 pseudogene 3 pseudogene pseudogene Approved 10q11.23 10q11.23 "solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 3|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 pseudogene 3" 2007-06-18 2016-02-17 2016-02-17 728990 ENSG00000226631 OTTHUMG00000018219 XR_015422 SLC9A3P3 PGOHUM00000238486 HGNC:33492 +HGNC:11075 SLC9A3R1 SLC9A3 regulator 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "NHERF|EBP50|NHERF1" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1|solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1|solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1" "PDZ domain containing|MicroRNA protein coding host genes" "1220|1691" 1999-02-26 2016-02-18 2017-04-21 9368 ENSG00000109062 OTTHUMG00000178863 uc002jlo.5 AF015926 NM_004252 CCDS11705 O14745 "9314537|9430655" MGI:1349482 RGD:708538 604990 244322 HGNC:11075 "ENST00000262613.10|NM_004252.5" HGNC:11075 +HGNC:55322 SLC9A3R1-AS1 SLC9A3R1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 Antisense RNAs 1987 2020-10-21 2020-10-21 105371893 ENSG00000266036 XR_934976 +HGNC:11076 SLC9A3R2 SLC9A3 regulator 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SIP-1|TKA-1|NHERF-2|E3KARP" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2|solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2|solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2|solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2" PDZ domain containing 1220 1999-02-26 2016-02-18 2016-02-18 9351 ENSG00000065054 OTTHUMG00000176956 uc002coi.3 AF004900 NM_001130012 "CCDS45383|CCDS58407|CCDS45382" Q15599 "9054412|9671706" MGI:1890662 RGD:620380 606553 471108 HGNC:11076 "ENST00000424542.7|NM_001130012.3" +HGNC:11077 SLC9A4 solute carrier family 9 member A4 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 NHE4 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 4|solute carrier family 9 (sodium/hydrogen exchanger), member 4|solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4" Solute carriers 752 1994-05-25 2016-02-25 2016-02-25 389015 ENSG00000180251 OTTHUMG00000153093 uc002tbz.4 NM_001011552.3 CCDS33264 Q6AI14 8199403 MGI:105074 RGD:3721 600531 SLC9A4 objectId:951 HGNC:11077 "ENST00000295269.5|NM_001011552.4" +HGNC:11078 SLC9A5 solute carrier family 9 member A5 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 NHE5 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 5|solute carrier family 9 (sodium/hydrogen exchanger), member 5|solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5" Solute carriers 752 1994-07-21 2016-02-25 2016-02-25 6553 ENSG00000135740 OTTHUMG00000172935 uc002esm.4 NM_001323971 CCDS42178 Q14940 "7759094|9933642" MGI:2685542 RGD:620473 600477 SLC9A5 objectId:952 HGNC:11078 "ENST00000299798.16|NM_004594.3" +HGNC:11079 SLC9A6 solute carrier family 9 member A6 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "NHE6|KIAA0267" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 6|solute carrier family 9 (sodium/hydrogen exchanger), member 6|solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6" Solute carriers 752 1999-07-30 2016-02-25 2020-04-02 10479 ENSG00000198689 OTTHUMG00000022498 uc004ezk.4 AF030409 NM_006359 "CCDS55504|CCDS83492|CCDS44003|CCDS14654" Q92581 9507001 MGI:2443511 RGD:1563582 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC9A6 300231 SLC9A6 158415 objectId:953 HGNC:11079 "ENST00000630721.3|NM_001379110.1" HGNC:11079 +HGNC:17123 SLC9A7 solute carrier family 9 member A7 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 NHE7 "solute carrier family 9 (sodium/hydrogen exchanger), isoform 7|solute carrier family 9 (sodium/hydrogen exchanger), member 7|solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7" Solute carriers 752 2001-11-02 2016-02-25 2020-04-02 84679 ENSG00000065923 OTTHUMG00000021428 uc004dgu.3 AF298591 NM_032591 "CCDS75967|CCDS14269" Q96T83 11279194 MGI:2444530 RGD:1561385 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC9A7 300368 SLC9A7 objectId:954 HGNC:17123 "ENST00000616978.5|NM_001257291.2" HGNC:17123 +HGNC:32679 SLC9A7P1 solute carrier family 9 member 7 pseudogene 1 pseudogene pseudogene Approved 12q23.1 12q23.1 "solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1|solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1" 2011-07-15 2016-02-17 2016-02-17 121456 ENSG00000227825 OTTHUMG00000170629 NR_033801 SLC9A7P1 PGOHUM00000261838 HGNC:32679 +HGNC:20728 SLC9A8 solute carrier family 9 member A8 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "KIAA0939|NHE8" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 8|solute carrier family 9 (sodium/hydrogen exchanger), member 8|solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8" Solute carriers 752 2003-03-28 2016-02-25 2018-11-19 23315 ENSG00000197818 OTTHUMG00000032710 uc002xuv.3 AB023156 NM_001260491 "CCDS13421|CCDS58774" Q9Y2E8 12409279 MGI:1924281 RGD:1308193 612730 SLC9A8 objectId:955 HGNC:20728 "ENST00000361573.3|NM_015266.3" +HGNC:20653 SLC9A9 solute carrier family 9 member A9 protein-coding gene gene with protein product Approved 3q24 03q24 "FLJ35613|NHE9" "solute carrier family 9 (sodium/hydrogen exchanger), isoform 9|solute carrier family 9 (sodium/hydrogen exchanger), member 9|solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9" Solute carriers 752 2003-03-28 2016-02-25 2016-02-25 285195 ENSG00000181804 OTTHUMG00000159373 uc003evn.3 AY254100 NM_173653 CCDS33872 Q8IVB4 14569117 MGI:2679732 RGD:1560736 608396 SLC9A9 318779 objectId:956 HGNC:20653 "ENST00000316549.11|NM_173653.4" HGNC:20653 +HGNC:40928 SLC9A9-AS1 SLC9A9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q24 03q24 SLC9A9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100885796 ENSG00000240012 OTTHUMG00000159374 uc031sbu.1 NR_048544 SLC9A9-AS1 HGNC:40928 +HGNC:40929 SLC9A9-AS2 SLC9A9 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q24 03q24 SLC9A9 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 106480356 ENSG00000244493 OTTHUMG00000159375 uc062orj.1 SLC9A9-AS2 +HGNC:24244 SLC9B1 solute carrier family 9 member B1 protein-coding gene gene with protein product Approved 4q24 04q24 NHA1 NHEDC1 "Na+/H+ exchanger domain containing 1|solute carrier family 9, subfamily B (cation proton antiporter 2), member 1|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1" Solute carriers 752 2007-05-15 2011-07-26 2016-02-17 2016-02-17 150159 ENSG00000164037 OTTHUMG00000161114 uc003hww.3 AF447585 NM_139173 "CCDS34041|CCDS47119" Q4ZJI4 16850186 MGI:1921696 RGD:1305087 611527 SLC9B1 objectId:2574 HGNC:24244 "ENST00000296422.12|NM_139173.4" +HGNC:37492 SLC9B1P1 solute carrier family 9 member B1 pseudogene 1 pseudogene pseudogene Approved Yq11.21 Yq11.21 NHEDC1P1 "Na+/H+ exchanger domain containing 1 pseudogene 1|solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 1|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 1" 2009-10-28 2011-07-26 2016-02-17 2016-02-17 100128190 ENSG00000183704 NG_023008 A6NJY1 MGI:1921696 SLC9B1P1 PGOHUM00000263345 HGNC:37492 +HGNC:37493 SLC9B1P2 solute carrier family 9 member B1 pseudogene 2 pseudogene pseudogene Approved 2p11.1 02p11.1 NHEDC1P2 "Na+/H+ exchanger domain containing 1 pseudogene 2|solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 2|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 2" 2009-10-28 2011-07-26 2016-02-17 2016-02-17 389000 ENSG00000214329 OTTHUMG00000155082 NG_009550 SLC9B1P2 PGOHUM00000259742 HGNC:37493 +HGNC:43582 SLC9B1P3 solute carrier family 9 member B1 pseudogene 3 pseudogene pseudogene Approved 10p11.1 10p11.1 "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 3|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 3" 2011-11-15 2016-02-17 2016-02-17 100421008 ENSG00000233867 OTTHUMG00000018001 NG_025429 SLC9B1P3 PGOHUM00000238423 HGNC:43582 +HGNC:43583 SLC9B1P4 solute carrier family 9 member B1 pseudogene 4 pseudogene pseudogene Approved 22q11.1 22q11.1 "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 4|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 4" 2011-11-15 2016-02-17 2016-02-17 644768 ENSG00000227367 OTTHUMG00000140399 NG_022866 SLC9B1P4 PGOHUM00000246197 HGNC:43583 +HGNC:43584 SLC9B1P5 solute carrier family 9 member B1 pseudogene 5 pseudogene pseudogene Approved 16p11.2 16p11.2 "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 5|solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 5" 2011-11-15 2016-02-17 2016-02-17 100533705 NG_028878 SLC9B1P5 PGOHUM00000249074 HGNC:43584 +HGNC:25143 SLC9B2 solute carrier family 9 member B2 protein-coding gene gene with protein product Approved 4q24 04q24 "FLJ23984|NHA2" NHEDC2 "Na+/H+ exchanger domain containing 2|solute carrier family 9, subfamily B (cation proton antiporter 2), member 2|solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2" Solute carriers 752 2007-05-15 2011-08-03 2016-02-17 2016-02-17 133308 ENSG00000164038 OTTHUMG00000131125 uc003hwx.5 AK172823 NM_178833 "CCDS75174|CCDS75173|CCDS3662" Q86UD5 18600791 MGI:2140077 RGD:1598112 611789 SLC9B2 objectId:2575 HGNC:25143 "ENST00000394785.9|NM_178833.7" +HGNC:31401 SLC9C1 solute carrier family 9 member C1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 NHE sperm-NHE SLC9A10 "solute carrier family 9, isoform 10|solute carrier family 9, member 10|solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1" Solute carriers 752 2004-12-23 2012-03-22 2016-02-17 2016-10-05 285335 ENSG00000172139 OTTHUMG00000159245 uc003dyu.4 AK128084 NM_183061 "CCDS82818|CCDS33817" Q4G0N8 12783626 MGI:2685456 RGD:1309075 612738 SLC9C1 objectId:957 HGNC:31401 "ENST00000305815.10|NM_183061.3" +HGNC:28664 SLC9C2 solute carrier family 9 member C2 (putative) protein-coding gene gene with protein product Approved 1q25.1 01q25.1 MGC43026 SLC9A11 "solute carrier family 9, isoform 11|solute carrier family 9, member 11|solute carrier family 9, member C2" Solute carriers 752 2004-12-23 2012-03-22 2016-02-17 2019-02-28 284525 ENSG00000162753 OTTHUMG00000034800 uc001giz.3 AK128104 NM_178527 CCDS1308 Q5TAH2 24337822 RGD:1565820 SLC9C2 objectId:958 HGNC:28664 "ENST00000367714.4|NM_178527.4" +HGNC:10905 SLC10A1 solute carrier family 10 member 1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 NTCP Na+/taurocholate cotransporting polypeptide solute carrier family 10 (sodium/bile acid cotransporter), member 1 Solute carriers 752 1994-02-16 2016-02-17 2018-08-01 6554 ENSG00000100652 OTTHUMG00000171236 uc001xlr.3 L21893 NM_003049 CCDS9797 Q14973 8132774 MGI:97379 RGD:3681 182396 SLC10A1 objectId:959 HGNC:10905 "ENST00000216540.5|NM_003049.4" HGNC:10905 +HGNC:10906 SLC10A2 solute carrier family 10 member 2 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 "ASBT|ISBT" solute carrier family 10 (sodium/bile acid cotransporter), member 2 Solute carriers 752 1995-10-24 2016-02-17 2016-10-05 6555 ENSG00000125255 OTTHUMG00000017313 uc001vpy.4 U10417 NM_000452 CCDS9506 Q12908 8661017 MGI:1201406 RGD:3682 601295 SLC10A2 457478 objectId:960 HGNC:10906 "ENST00000245312.5|NM_000452.3" HGNC:10906 +HGNC:22979 SLC10A3 solute carrier family 10 member 3 protein-coding gene gene with protein product Approved Xq28 Xq28 "P3|DXS253E" solute carrier family 10, member 3 Solute carriers 752 2003-08-08 2015-12-04 2020-04-02 8273 ENSG00000126903 OTTHUMG00000013369 uc004flp.4 X12458 NM_019848 "CCDS48195|CCDS14755" P09131 8733135 MGI:95048 RGD:1563513 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC10A3 312090 SLC10A3 objectId:962 HGNC:22979 "ENST00000651600.1|NM_019848.5" +HGNC:22980 SLC10A4 solute carrier family 10 member 4 protein-coding gene gene with protein product Approved 4p11 04p11 MGC29802 solute carrier family 10, member 4 Solute carriers 752 2003-08-08 2015-12-04 2016-10-05 201780 ENSG00000145248 OTTHUMG00000102092 uc003gyc.3 BC012048 NM_152679 CCDS3482 Q96EP9 MGI:3606480 RGD:1309536 618563 SLC10A4 objectId:963 HGNC:22980 "ENST00000273861.5|NM_152679.4" +HGNC:22981 SLC10A5 solute carrier family 10 member 5 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "Sodium/bile acid cotransporter 5|Na(+)/bile acid cotransporter 5" solute carrier family 10, member 5 Solute carriers 752 2003-08-08 2015-12-04 2018-11-19 347051 ENSG00000253598 OTTHUMG00000164683 uc011lfs.3 NM_001010893 CCDS34915 Q5PT55 MGI:2685251 RGD:1306036 618582 SLC10A5 objectId:964 HGNC:22981 "ENST00000518568.3|NM_001010893.3" +HGNC:48930 SLC10A5P1 SLC10A5 pseudogene 1 pseudogene pseudogene Approved 8q21.13 08q21.13 2013-07-15 2013-07-15 100631269 ENSG00000205184 OTTHUMG00000164681 NG_029285 PGOHUM00000249408 HGNC:48930 +HGNC:30603 SLC10A6 solute carrier family 10 member 6 protein-coding gene gene with protein product Approved 4q21.3 04q21.3 SOAT solute carrier family 10 (sodium/bile acid cotransporter), member 6 Solute carriers 752 2005-06-14 2016-02-17 2016-10-05 345274 ENSG00000145283 OTTHUMG00000130596 uc003hqd.2 AJ583502 NM_197965 CCDS3614 Q3KNW5 "15020217|17491011" MGI:1923000 RGD:727800 613366 SLC10A6 objectId:961 HGNC:30603 "ENST00000273905.7|NM_197965.3" +HGNC:23088 SLC10A7 solute carrier family 10 member 7 protein-coding gene gene with protein product Approved 4q31.22 04q31.22 "MGC25043|DKFZp566M114|DKFZp313H0531|DKFZp779O2438" C4orf13 "chromosome 4 open reading frame 13|solute carrier family 10, member 7" Solute carriers 752 2003-09-25 2006-12-19 2015-12-04 2016-10-05 84068 ENSG00000120519 OTTHUMG00000161437 uc003ikr.3 AY346324 NM_032128 "CCDS82964|CCDS82963|CCDS82962|CCDS75198|CCDS3768|CCDS34073" Q0GE19 15932064 MGI:1924025 RGD:1564388 611459 SLC10A7 objectId:965 HGNC:23088 "ENST00000335472.12|NM_001029998.6" HGNC:23088 +HGNC:10907 SLC11A1 solute carrier family 11 member 1 protein-coding gene gene with protein product Approved 2q35 02q35 natural resistance-associated macrophage protein 1 "LSH|NRAMP|NRAMP1" solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 Solute carriers 752 1994-07-21 2016-02-17 2016-02-17 6556 ENSG00000018280 OTTHUMG00000086747 uc002vhv.3 D38171 NM_000578 CCDS2415 P49279 "7964458|7980580" MGI:1345275 RGD:1601463 600266 SLC11A1 158401 objectId:966 HGNC:10907 "ENST00000233202.11|NM_000578.4" +HGNC:10908 SLC11A2 solute carrier family 11 member 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "DCT1|DMT1" NRAMP2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 Solute carriers 752 1995-12-19 2016-02-17 2021-04-13 4891 ENSG00000110911 OTTHUMG00000169493 uc001rxi.4 AB015355 NM_000617 "CCDS8805|CCDS53793|CCDS53792|CCDS53791" P49281 7613023 MGI:1345279 RGD:3684 LRG_1160|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1160.xml 600523 SLC11A2 118732 objectId:967 HGNC:10908 "ENST00000262052.9|NM_000617.3" HGNC:10908 +HGNC:10910 SLC12A1 solute carrier family 12 member 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 NKCC2 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Solute carriers 752 1994-02-16 2016-02-17 2016-02-17 6557 ENSG00000074803 OTTHUMG00000131495 uc001zwn.5 NM_000338 "CCDS53940|CCDS10129" Q13621 8640224 MGI:103150 RGD:3685 600839 SLC12A1 118737 objectId:968 HGNC:10910 "ENST00000380993.8|NM_000338.3" HGNC:10910 +HGNC:10911 SLC12A2 solute carrier family 12 member 2 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 "NKCC1|BSC|BSC2|PPP1R141" "bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1|basolateral Na-K-Cl symporter|protein phosphatase 1, regulatory subunit 141" solute carrier family 12 (sodium/potassium/chloride transporter), member 2 "Protein phosphatase 1 regulatory subunits|Solute carriers" "694|752" 1994-02-16 2016-02-17 2016-02-17 6558 ENSG00000064651 OTTHUMG00000128983 uc003kus.4 NM_001046 "CCDS4144|CCDS58965" P55011 7629105 MGI:101924 RGD:620809 600840 SLC12A2 objectId:969 HGNC:10911 "ENST00000262461.7|NM_001046.3" HGNC:10911 +HGNC:49565 SLC12A2-DT SLC12A2 divergent transcript non-coding RNA RNA, long non-coding Approved 5q23.3 05q23.3 FLJ33630 LINC01184 long intergenic non-protein coding RNA 1184 Divergent transcripts 1990 2014-01-11 2021-09-13 2021-09-13 2021-09-13 644873 ENSG00000245937 OTTHUMG00000163312 BX648677 NR_015360 24036268 LINC01184 HGNC:49565 +HGNC:10912 SLC12A3 solute carrier family 12 member 3 protein-coding gene gene with protein product Approved 16q13 16q13 NCCT solute carrier family 12 (sodium/chloride transporter), member 3 "Solute carriers|MicroRNA protein coding host genes" "752|1691" 1995-10-02 2016-02-17 2016-02-17 6559 ENSG00000070915 OTTHUMG00000133284 uc002ekd.4 NM_000339 "CCDS10770|CCDS45491|CCDS58464" P55017 8812482 MGI:108114 RGD:3686 600968 SLC12A3 118740 objectId:970 HGNC:10912 "ENST00000563236.6|NM_001126108.2" HGNC:10912 +HGNC:10913 SLC12A4 solute carrier family 12 member 4 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 KCC1 solute carrier family 12 (potassium/chloride transporter), member 4 Solute carriers 752 1996-11-15 2016-02-17 2016-02-17 6560 ENSG00000124067 OTTHUMG00000137535 uc002euz.2 NM_005072 "CCDS54030|CCDS54031|CCDS54032|CCDS10855" Q9UP95 8663127 MGI:1309465 RGD:3687 604119 SLC12A4 objectId:971 HGNC:10913 "ENST00000316341.8|NM_005072.5" +HGNC:13818 SLC12A5 solute carrier family 12 member 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "KIAA1176|KCC2" solute carrier family 12 (potassium/chloride transporter), member 5 Solute carriers 752 2000-11-09 2016-02-17 2016-02-17 57468 ENSG00000124140 OTTHUMG00000032638 uc002xrb.3 AB033002 NM_001134771 "CCDS13391|CCDS46610" Q9H2X9 MGI:1862037 RGD:620811 606726 SLC12A5 444948 objectId:972 HGNC:13818 "ENST00000243964.7|NM_020708.5" HGNC:13818 +HGNC:53143 SLC12A5-AS1 SLC12A5 and MMP9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 RP11-465L10.10 Antisense RNAs 1987 2017-02-16 2017-02-16 109729184 ENSG00000204044 OTTHUMG00000032629 NR_147699 27816668 HGNC:53143 +HGNC:10914 SLC12A6 solute carrier family 12 member 6 protein-coding gene gene with protein product Approved 15q14 15q14 "KCC3|ACCPN" "agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)|solute carrier family 12 (potassium/chloride transporter), member 6" Solute carriers 752 1999-05-25 2016-02-17 2021-04-13 9990 ENSG00000140199 OTTHUMG00000129441 uc001zhv.4 AF108831 NM_005135 "CCDS42011|CCDS58352|CCDS10036|CCDS42012|CCDS42010" Q9UHW9 "10187864|10347194" MGI:2135960 RGD:1311335 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_270|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_270.xml" 604878 SLC12A6 118742 objectId:973 HGNC:10914 "ENST00000354181.8|NM_001365088.1" HGNC:10914 +HGNC:10915 SLC12A7 solute carrier family 12 member 7 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "KCC4|DKFZP434F076" solute carrier family 12 (potassium/chloride transporter), member 7 "Solute carriers|MicroRNA protein coding host genes" "752|1691" 1999-07-30 2016-02-17 2016-10-05 10723 ENSG00000113504 OTTHUMG00000161931 uc003jbu.4 AF105365 NM_006598 CCDS34129 Q9Y666 10347194 MGI:1342283 RGD:1359672 604879 SLC12A7 objectId:974 HGNC:10915 "ENST00000264930.10|NM_006598.3" +HGNC:15595 SLC12A8 solute carrier family 12 member 8 protein-coding gene gene with protein product Approved 3q21.2 03q21.2 CCC9 "solute carrier family 12 (sodium/potassium/chloride transporters), member 8|cation-chloride cotransporter 9" "Solute carriers|MicroRNA protein coding host genes" "752|1691" 2001-05-24 2016-02-17 2016-02-17 84561 ENSG00000221955 OTTHUMG00000159483 uc003ehv.5 NM_024628 CCDS43143 A0AV02 11863360 MGI:2443672 RGD:628730 611316 SLC12A8 objectId:975 HGNC:15595 "ENST00000469902.6|NM_024628.6" +HGNC:17435 SLC12A9 solute carrier family 12 member 9 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 CIP1 cation-chloride cotransporter-interacting protein Solute carriers 752 2003-07-25 2016-02-17 2016-10-05 56996 ENSG00000146828 OTTHUMG00000156045 uc003uwp.5 AF284422 NM_020246 "CCDS5707|CCDS59068|CCDS59069" Q9BXP2 "10871601|11239002" MGI:1933532 RGD:620747 616861 SLC12A9 objectId:976 HGNC:17435 "ENST00000354161.8|NM_020246.4" +HGNC:40807 SLC12A9-AS1 SLC12A9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 RP11-126L15.4 Antisense RNAs 1987 2016-12-21 2016-12-21 105375430 ENSG00000236305 OTTHUMG00000157041 NR_146550 27980086 HGNC:40807 +HGNC:10916 SLC13A1 solute carrier family 13 member 1 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "NaSi-1|NAS1" "solute carrier family 13 (sodium/sulphate symporters), member 1|solute carrier family 13 (sodium/sulfate symporter), member 1" Solute carriers 752 1994-02-16 2016-02-17 2016-02-17 6561 ENSG00000081800 OTTHUMG00000157087 uc003vkm.4 NM_022444 CCDS5786 Q9BZW2 11161786 MGI:1859937 RGD:61919 606193 SLC13A1 objectId:977 HGNC:10916 "ENST00000194130.7|NM_022444.4" +HGNC:10917 SLC13A2 solute carrier family 13 member 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 NaDC-1 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 Solute carriers 752 1999-01-26 2016-02-17 2016-10-05 9058 ENSG00000007216 OTTHUMG00000132523 uc002hbh.4 U26209 NM_003984 "CCDS11231|CCDS54098" Q13183 "8967342|10343111" MGI:1276558 RGD:61920 604148 SLC13A2 objectId:978 HGNC:10917 "ENST00000314669.10|NM_003984.4" +HGNC:14430 SLC13A3 solute carrier family 13 member 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "NADC3|SDCT2" solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 Solute carriers 752 2001-06-13 2016-02-17 2016-02-17 64849 ENSG00000158296 OTTHUMG00000033042 uc002xsf.3 AF154121 NM_001011554 "CCDS54470|CCDS42886|CCDS13400|CCDS54469" Q8WWT9 "10794676|10992006" MGI:2149635 RGD:628786 606411 SLC13A3 objectId:979 HGNC:14430 "ENST00000279027.9|NM_022829.6" HGNC:14430 +HGNC:15827 SLC13A4 solute carrier family 13 member 4 protein-coding gene gene with protein product Approved 7q33 07q33 "SUT-1|SUT1" sulphate transporter 1 "solute carrier family 13 (sodium/sulphate symporters), member 4|solute carrier family 13 (sodium/sulfate symporter), member 4" Solute carriers 752 2001-06-13 2016-02-17 2016-02-17 26266 ENSG00000164707 OTTHUMG00000155539 uc003vta.4 AF169301 NM_012450 CCDS5840 Q9UKG4 10535998 MGI:2442367 RGD:1359715 604309 SLC13A4 objectId:980 HGNC:15827 "ENST00000682651.1|NM_001318192.2" +HGNC:23089 SLC13A5 solute carrier family 13 member 5 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "NACT|INDY" solute carrier family 13 (sodium-dependent citrate transporter), member 5 Solute carriers 752 2003-09-09 2016-02-17 2021-04-13 284111 ENSG00000141485 OTTHUMG00000102052 uc002gdj.5 AJ489980 NM_177550 "CCDS11079|CCDS67137|CCDS67136|CCDS45593" Q86YT5 12445824 MGI:3037150 RGD:631374 LRG_1020|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1020.xml 608305 SLC13A5 413976 objectId:981 HGNC:23089 "ENST00000433363.7|NM_177550.5" HGNC:23089 +HGNC:10918 SLC14A1 solute carrier family 14 member 1 (Kidd blood group) protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "HsT1341|RACH1|RACH2" JK "Kidd blood group|solute carrier family 14 (urea transporter), member 1|solute carrier family 14 (urea transporter), member 1 (Kidd blood group)" "Blood group antigens|Solute carriers" "454|752" 1994-02-15 2016-02-17 2021-04-13 6563 ENSG00000141469 OTTHUMG00000132617 uc002lbf.4 BC040128 NM_015865 "CCDS77181|CCDS11925|CCDS82252|CCDS45860" Q13336 7797558 MGI:1351654 RGD:3688 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|LRG_802|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_802.xml" 613868 SLC14A1 objectId:982 HGNC:10918 "ENST00000321925.9|NM_015865.7" +HGNC:10919 SLC14A2 solute carrier family 14 member 2 protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "HUT2|UT2" solute carrier family 14 (urea transporter), member 2 Solute carriers 752 1998-09-22 2016-02-17 2016-02-17 8170 ENSG00000132874 OTTHUMG00000132616 uc010dnj.4 X96969 NM_001242692 CCDS11924 Q15849 8647271 MGI:1351653 RGD:3689 601611 SLC14A2 objectId:983 HGNC:10919 "ENST00000255226.11|NM_007163.4" +HGNC:51125 SLC14A2-AS1 SLC14A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q12.3 18q12.3 Antisense RNAs 1987 2014-07-30 2014-07-30 101927980 ENSG00000267097 OTTHUMG00000179057 NR_110899 SLC14A2-AS1 HGNC:51125 +HGNC:10920 SLC15A1 solute carrier family 15 member 1 protein-coding gene gene with protein product Approved 13q32.2-q32.3 13q32.2-q32.3 "PEPT1|HPECT1|HPEPT1" "peptide transporter HPEPT1|bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)|solute carrier family 15 oligopeptide transporter member 1" solute carrier family 15 (oligopeptide transporter), member 1 Solute carriers 752 1994-02-15 2016-02-17 2018-02-13 6564 ENSG00000088386 OTTHUMG00000017255 uc001vno.4 U13173 NM_005073 CCDS9489 P46059 7896779 MGI:1861376 RGD:621736 600544 SLC15A1 objectId:984 HGNC:10920 "ENST00000376503.10|NM_005073.4" +HGNC:10921 SLC15A2 solute carrier family 15 member 2 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 PEPT2 "solute carrier family 15 (H+/peptide transporter), member 2|solute carrier family 15 (oligopeptide transporter), member 2" Solute carriers 752 1996-11-15 2016-02-17 2016-10-05 6565 ENSG00000163406 OTTHUMG00000159423 uc003eep.3 BC044572 NM_021082 "CCDS3007|CCDS54631" Q16348 7756356 MGI:1890457 RGD:61972 602339 SLC15A2 objectId:985 HGNC:10921 "ENST00000489711.6|NM_021082.4" +HGNC:18068 SLC15A3 solute carrier family 15 member 3 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "PHT2|hPTR3" "solute carrier family 15, member 3|solute carrier family 15 (oligopeptide transporter), member 3" Solute carriers 752 2003-09-09 2016-02-17 2016-02-17 51296 ENSG00000110446 OTTHUMG00000167804 uc001nqn.3 AB020598 NM_016582 CCDS7998 Q8IY34 "11336635|11741232" MGI:1929691 RGD:628663 610408 SLC15A3 objectId:986 HGNC:18068 "ENST00000227880.8|NM_016582.3" +HGNC:23090 SLC15A4 solute carrier family 15 member 4 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "PHT1|PTR4" "solute carrier family 15, member 4|solute carrier family 15 (oligopeptide transporter), member 4" Solute carriers 752 2003-09-09 2016-02-17 2016-10-05 121260 ENSG00000139370 OTTHUMG00000168415 uc001uhu.3 AY038999 NM_145648 CCDS9264 Q8N697 11741232 MGI:2140796 RGD:708469 615806 SLC15A4 objectId:987 HGNC:23090 "ENST00000266771.10|NM_145648.4" +HGNC:33455 SLC15A5 solute carrier family 15 member 5 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 solute carrier family 15, member 5 Solute carriers 752 2008-12-10 2016-02-17 2017-07-26 729025 ENSG00000188991 OTTHUMG00000168793 uc021qvs.1 NM_001170798 A6NIM6 21044875 MGI:3607714 RGD:1564925 SLC15A5 HGNC:33455 "ENST00000344941.3|NM_001170798.1" +HGNC:10922 SLC16A1 solute carrier family 16 member 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "MCT|MCT1" "solute carrier family 16 (monocarboxylic acid transporters), member 1|solute carrier family 16, member 1 (monocarboxylic acid transporter 1)|solute carrier family 16 (monocarboxylate transporter), member 1" Solute carriers 752 1994-02-16 2016-02-17 2016-10-05 6566 ENSG00000155380 OTTHUMG00000012129 uc001ecy.4 BC026317 NM_003051 CCDS858 P53985 "8124722|7835905" MGI:106013 RGD:3690 600682 SLC16A1 168122 objectId:988 HGNC:10922 "ENST00000369626.8|NM_003051.4" HGNC:10922 +HGNC:49445 SLC16A1-AS1 SLC16A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.2 01p13.2 ENST00000421157.1 Antisense RNAs 1987 2013-12-03 2019-08-08 100506392 ENSG00000226419 OTTHUMG00000012128 NR_103743 "28418905|31371390" SLC16A1-AS1 HGNC:49445 +HGNC:48931 SLC16A1P1 SLC16A1 pseudogene 1 pseudogene pseudogene Approved 7q35 07q35 2013-07-15 2013-07-15 100422547 ENSG00000242280 OTTHUMG00000157772 NG_026644 PGOHUM00000260386 HGNC:48931 +HGNC:10923 SLC16A2 solute carrier family 16 member 2 protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 "XPCT|MCT8|MCT7" "DXS128|AHDS|MRX22" "solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)|Allan-Herndon-Dudley syndrome|solute carrier family 16 (monocarboxylic acid transporters), member 2|mental retardation, X-linked 22|solute carrier family 16, member 2 (monocarboxylic acid transporter 8)|solute carrier family 16, member 2 (thyroid hormone transporter)" Solute carriers 752 1994-04-22 2016-02-17 2020-04-02 6567 ENSG00000147100 OTTHUMG00000021857 uc031tjy.2 NM_006517 CCDS14426 P36021 "7981683|12871948|15889350" MGI:1203732 RGD:628608 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC16A2 300095 SLC16A2 118746 objectId:992 HGNC:10923 "ENST00000587091.6|NM_006517.5" HGNC:10923 +HGNC:10924 SLC16A3 solute carrier family 16 member 3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MCT3|MCT4" "solute carrier family 16 (monocarboxylic acid transporters), member 3|solute carrier family 16, member 3 (monocarboxylic acid transporter 4)|solute carrier family 16 (monocarboxylate transporter), member 3" "Solute carriers|MicroRNA protein coding host genes" "752|1691" 1999-02-10 2016-02-17 2016-02-17 9123 ENSG00000141526 OTTHUMG00000178832 uc021ufm.2 U81800 NM_004207 CCDS11804 O15427 9425115 MGI:1933438 RGD:620603 603877 SLC16A3 objectId:989 HGNC:10924 "ENST00000582743.6|NM_004207.4" +HGNC:10925 SLC16A4 solute carrier family 16 member 4 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "MCT4|MCT5" "solute carrier family 16 (monocarboxylic acid transporters), member 4|solute carrier family 16, member 4 (monocarboxylic acid transporter 5)|solute carrier family 16, member 4" Solute carriers 752 1999-02-10 2015-12-04 2015-12-04 9122 ENSG00000168679 OTTHUMG00000011285 uc001dzo.3 U59185 NM_004696 "CCDS55621|CCDS823|CCDS55624|CCDS55623|CCDS55622" O15374 9425115 MGI:2385183 RGD:1359655 603878 SLC16A4 objectId:994 HGNC:10925 "ENST00000369779.9|NM_004696.3" +HGNC:56051 SLC16A4-AS1 SLC16A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Antisense RNAs 1987 2021-12-09 2021-12-09 123706514 ENSG00000273373 +HGNC:10926 SLC16A5 solute carrier family 16 member 5 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "MCT5|MCT6" "solute carrier family 16 (monocarboxylic acid transporters), member 5|solute carrier family 16, member 5 (monocarboxylic acid transporter 6)|solute carrier family 16 (monocarboxylate transporter), member 5" Solute carriers 752 1999-02-10 2016-02-17 2016-02-17 9121 ENSG00000170190 OTTHUMG00000179277 uc002jmr.5 U59299 NM_004695 CCDS11713 O15375 9425115 MGI:2443515 RGD:1582896 603879 SLC16A5 objectId:995 HGNC:10926 "ENST00000329783.9|NM_004695.4" +HGNC:10927 SLC16A6 solute carrier family 16 member 6 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "MCT6|MCT7" "solute carrier family 16 (monocarboxylic acid transporters), member 6|solute carrier family 16, member 6 (monocarboxylic acid transporter 7)|solute carrier family 16, member 6" Solute carriers 752 1999-02-10 2015-12-04 2015-12-04 9120 ENSG00000108932 OTTHUMG00000179812 uc002jha.3 U79745 NM_004694 CCDS11675 O15403 9425115 MGI:2144585 RGD:735117 603880 SLC16A6 objectId:996 HGNC:10927 "ENST00000580666.6|NM_004694.5" +HGNC:48932 SLC16A6P1 SLC16A6 pseudogene 1 pseudogene pseudogene Approved 17q24.1 17q24.1 2013-07-15 2013-07-15 440459 ENSG00000232457 OTTHUMG00000179314 NG_054749 PGOHUM00000262991 HGNC:48932 +HGNC:10928 SLC16A7 solute carrier family 16 member 7 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 MCT2 "solute carrier family 16 (monocarboxylic acid transporters), member 7|solute carrier family 16 (monocarboxylate transporter), member 7" Solute carriers 752 1999-03-02 2016-02-17 2016-02-17 9194 ENSG00000118596 OTTHUMG00000169923 uc001sqt.5 AF049608 NM_004731 CCDS8961 O60669 9786900 MGI:1330284 RGD:3691 603654 SLC16A7 objectId:990 HGNC:10928 "ENST00000547379.6|NM_001270623.2" +HGNC:16270 SLC16A8 solute carrier family 16 member 8 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "MCT3|REMP" monocarboxylate transporter 3 "solute carrier 16 (monocarboxylic acid transporters), member 8|solute carrier family 16 (monocarboxylate transporter), member 8" Solute carriers 752 2001-07-19 2016-02-17 2016-02-17 23539 ENSG00000100156 OTTHUMG00000151196 uc003auu.4 AF132610 NM_013356 CCDS13966 O95907 10493836 MGI:1929519 RGD:69282 610409 SLC16A8 objectId:991 HGNC:16270 "ENST00000681075.2|NM_013356.3" +HGNC:23520 SLC16A9 solute carrier family 16 member 9 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "FLJ43803|MCT9" monocarboxylic acid transporter 9 C10orf36 "chromosome 10 open reading frame 36|solute carrier family 16 (monocarboxylic acid transporters), member 9|solute carrier family 16, member 9 (monocarboxylic acid transporter 9)|solute carrier family 16, member 9" Solute carriers 752 2003-11-21 2004-01-21 2015-12-04 2016-10-05 220963 ENSG00000165449 OTTHUMG00000018283 uc057tkq.1 AK125791 NM_194298 CCDS7256 Q7RTY1 MGI:1914109 RGD:1596295 614242 SLC16A9 objectId:997 HGNC:23520 "ENST00000395348.8|NM_194298.3" +HGNC:17027 SLC16A10 solute carrier family 16 member 10 protein-coding gene gene with protein product Approved 6q21 06q21 "TAT1|MCT10" "solute carrier family 16 (monocarboxylic acid transporters), member 10|solute carrier family 16 (aromatic amino acid transporter), member 10" Solute carriers 752 2001-11-09 2016-02-17 2016-02-17 117247 ENSG00000112394 OTTHUMG00000015371 uc003pus.4 AF116652 NM_018593 CCDS5089 Q8TF71 "11278508|11827462" MGI:1919722 RGD:69197 607550 SLC16A10 471068 objectId:993 HGNC:17027 "ENST00000368851.10|NM_018593.5" +HGNC:23093 SLC16A11 solute carrier family 16 member 11 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ90193|MCT11" monocarboxylic acid transporter 11 "solute carrier family 16 (monocarboxylic acid transporters), member 11|solute carrier family 16, member 11" Solute carriers 752 2003-09-24 2015-12-04 2016-10-05 162515 ENSG00000174326 OTTHUMG00000102087 uc002gei.1 AK074674 NM_153357 CCDS11086 Q8NCK7 MGI:2663709 RGD:1311125 615765 SLC16A11 objectId:998 HGNC:23093 "ENST00000574600.3|NM_001370549.1" +HGNC:23094 SLC16A12 solute carrier family 16 member 12 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 MCT12 monocarboxylic acid transporter 12 "solute carrier family 16 (monocarboxylic acid transporters), member 12|solute carrier family 16, member 12 (monocarboxylic acid transporter 12)|solute carrier family 16, member 12" Solute carriers 752 2003-09-24 2015-12-04 2016-10-05 387700 ENSG00000152779 OTTHUMG00000018714 uc001kgm.4 NM_213606 CCDS7404 Q6ZSM3 MGI:2147716 RGD:1311468 611910 SLC16A12 140058 objectId:999 HGNC:23094 "ENST00000371790.5|NM_213606.4" HGNC:23094 +HGNC:51205 SLC16A12-AS1 SLC16A12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.31 10q23.31 Antisense RNAs 1987 2014-08-07 2015-12-04 101926906 ENSG00000234452 OTTHUMG00000018715 NR_120614 SLC16A12-AS1 HGNC:51205 +HGNC:31037 SLC16A13 solute carrier family 16 member 13 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 MCT13 monocarboxylic acid transporter 13 "solute carrier family 16 (monocarboxylic acid transporters), member 13|solute carrier family 16, member 13" Solute carriers 752 2004-03-11 2015-12-04 2015-12-04 201232 ENSG00000174327 OTTHUMG00000102089 uc002geh.3 BN000145 NM_201566 CCDS11085 Q7RTY0 MGI:1916559 RGD:1359138 SLC16A13 objectId:1000 HGNC:31037 "ENST00000308027.7|NM_201566.3" +HGNC:26417 SLC16A14 solute carrier family 16 member 14 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "FLJ30794|MCT14" monocarboxylic acid transporter 14 "solute carrier family 16 (monocarboxylic acid transporters), member 14|solute carrier family 16, member 14" Solute carriers 752 2004-03-11 2015-12-04 2016-10-05 151473 ENSG00000163053 OTTHUMG00000133205 uc002vqd.2 BN000146 NM_152527 CCDS2473 Q7RTX9 MGI:1919031 RGD:1309675 SLC16A14 objectId:1001 HGNC:26417 "ENST00000295190.9|NM_152527.5" +HGNC:43809 SLC16A14P1 solute carrier family 16 member 14 pseudogene 1 pseudogene pseudogene Approved 8q23.1 08q23.1 "solute carrier family 16, member 14 (monocarboxylic acid transporter 14) pseudogene 1|solute carrier family 16, member 14 pseudogene 1" 2012-03-12 2015-12-04 2015-12-04 100128685 ENSG00000213708 OTTHUMG00000160423 NG_022428 SLC16A14P1 PGOHUM00000249771 HGNC:43809 +HGNC:10929 SLC17A1 solute carrier family 17 member 1 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 NAPI-1 NPT1 "solute carrier family 17 (sodium phosphate), member 1|solute carrier family 17 (organic anion transporter), member 1" Solute carriers 752 1994-05-25 2016-02-17 2016-02-17 6568 ENSG00000124568 OTTHUMG00000016297 uc003nfh.5 NM_005074 CCDS4565 Q14916 8288239 MGI:103209 RGD:620099 182308 SLC17A1 objectId:1002 HGNC:10929 "ENST00000244527.10|NM_005074.5" +HGNC:10930 SLC17A2 solute carrier family 17 member 2 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 NPT3 "solute carrier family 17 (sodium phosphate), member 2|solute carrier family 17, member 2" Solute carriers 752 1999-07-19 2016-02-17 2016-02-17 10246 ENSG00000112337 OTTHUMG00000014413 uc003nfl.5 U90544 NM_001286123 "CCDS69060|CCDS4567" O00624 9149941 MGI:2443098 RGD:1308821 611049 SLC17A2 objectId:1003 HGNC:10930 "ENST00000377850.8|NM_001286123.3" +HGNC:10931 SLC17A3 solute carrier family 17 member 3 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 NPT4 "solute carrier family 17 (sodium phosphate), member 3|solute carrier family 17 (organic anion transporter), member 3" Solute carriers 752 1999-07-19 2016-02-17 2016-02-17 10786 ENSG00000124564 OTTHUMG00000014412 uc063mfq.1 U90545 NM_001098486 "CCDS4566|CCDS47385" O00476 9149941 MGI:2389216 RGD:628815 611034 SLC17A3 objectId:1004 HGNC:10931 "ENST00000397060.8|NM_001098486.2" +HGNC:10932 SLC17A4 solute carrier family 17 member 4 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 KIAA2138 "solute carrier family 17 (sodium phosphate), member 4|solute carrier family 17, member 4" Solute carriers 752 1999-07-19 2016-02-17 2016-02-17 10050 ENSG00000146039 OTTHUMG00000014410 uc003nfe.4 AB020527 NM_001286121 "CCDS75411|CCDS4564" Q9Y2C5 10319585 MGI:2442850 RGD:1584758 604216 SLC17A4 objectId:1005 HGNC:10932 "ENST00000377905.9|NM_005495.3" +HGNC:10933 SLC17A5 solute carrier family 17 member 5 protein-coding gene gene with protein product Approved 6q13 06q13 "AST|SD|ISSD|NSD|SIALIN|SLD" SIASD "sialic acid storage disease|solute carrier family 17 (anion/sugar transporter), member 5|solute carrier family 17 (acidic sugar transporter), member 5" Solute carriers 752 2000-01-06 2016-02-17 2016-02-17 26503 ENSG00000119899 OTTHUMG00000015039 uc003phn.5 AJ387747 NM_001382629 CCDS4981 Q9NRA2 "10581036|8198127" MGI:1924105 RGD:1311388 604322 SLC17A5 118753 objectId:1006 HGNC:10933 "ENST00000355773.6|NM_012434.5" HGNC:10933 +HGNC:16703 SLC17A6 solute carrier family 17 member 6 protein-coding gene gene with protein product Approved 11p14.3 11p14.3 "DNPI|VGLUT2" "vesicular glutamate transporter 2|differentiation-associated Na-dependent inorganic phosphate cotransporter" "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6|solute carrier family 17 (vesicular glutamate transporter), member 6" Solute carriers 752 2001-09-27 2016-02-17 2016-02-17 57084 ENSG00000091664 OTTHUMG00000166063 uc001mqk.4 AB032435 NM_020346 CCDS7856 Q9P2U8 11306821 MGI:2156052 RGD:620531 607563 SLC17A6 objectId:1008 HGNC:16703 "ENST00000263160.4|NM_020346.3" +HGNC:55514 SLC17A6-DT SLC17A6 divergent transcript non-coding RNA RNA, long non-coding Approved 11p14.3 11p14.3 Divergent transcripts 1990 2021-03-17 2021-03-17 120883619 ENSG00000254768 +HGNC:16704 SLC17A7 solute carrier family 17 member 7 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "BNPI|VGLUT1" vesicular glutamate transporter 1 "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7|solute carrier family 17 (vesicular glutamate transporter), member 7" Solute carriers 752 2001-09-27 2016-02-17 2016-02-17 57030 ENSG00000104888 OTTHUMG00000183166 uc002pnp.4 AB032436 NM_020309 CCDS12764 Q9P2U7 "8632143|10820226" MGI:1920211 RGD:620101 605208 SLC17A7 objectId:1007 HGNC:16704 "ENST00000221485.8|NM_020309.4" +HGNC:20151 SLC17A8 solute carrier family 17 member 8 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 VGLUT3 vesicular glutamate transporter 3 DFNA25 "deafness, autosomal dominant 25|solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8|solute carrier family 17 (vesicular glutamate transporter), member 8" Solute carriers 752 2003-06-10 2016-02-17 2016-02-17 246213 ENSG00000179520 OTTHUMG00000170358 uc010svi.2 AJ459241 NM_139319 "CCDS9077|CCDS44957" Q8NDX2 12151341 MGI:3039629 RGD:628870 607557 SLC17A8 169896 objectId:1009 HGNC:20151 "ENST00000323346.10|NM_139319.3" HGNC:20151 +HGNC:16192 SLC17A9 solute carrier family 17 member 9 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ23412|VNUT" C20orf59 "chromosome 20 open reading frame 59|solute carrier family 17, member 9|solute carrier family 17 (vesicular nucleotide transporter), member 9" Solute carriers 752 2001-07-17 2009-01-22 2016-02-17 2016-02-17 63910 ENSG00000101194 OTTHUMG00000032951 uc002yea.5 AK027065 NM_022082 "CCDS42901|CCDS77600" Q9BYT1 18375752 MGI:1919107 RGD:1311940 612107 SLC17A9 413026 objectId:1010 HGNC:16192 "ENST00000370351.9|NM_022082.4" HGNC:16192 +HGNC:10934 SLC18A1 solute carrier family 18 member A1 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 CGAT "VMAT1|VAT1" solute carrier family 18 (vesicular monoamine transporter), member 1 Solute carriers 752 1994-05-25 2016-02-25 2016-02-25 6570 ENSG00000036565 OTTHUMG00000097017 uc003wzm.3 NM_001135691 "CCDS47814|CCDS6013|CCDS47815" P54219 MGI:106684 RGD:3693 193002 SLC18A1 objectId:1011 HGNC:10934 "ENST00000276373.10|NM_003053.4" +HGNC:10935 SLC18A2 solute carrier family 18 member A2 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "SVMT|SVAT" VMAT2 solute carrier family 18 (vesicular monoamine transporter), member 2 Solute carriers 752 1994-05-25 2016-02-25 2016-10-05 6571 ENSG00000165646 OTTHUMG00000019121 uc001ldd.3 L14269 NM_003054 CCDS7599 Q05940 MGI:106677 RGD:3694 193001 SLC18A2 356164 objectId:1012 HGNC:10935 "ENST00000644641.2|NM_003054.6" HGNC:10935 +HGNC:55843 SLC18A2-AS1 SLC18A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.3 10q25.3 Antisense RNAs 1987 2021-08-09 2021-08-09 105378500 ENSG00000225936 XR_946342 +HGNC:10936 SLC18A3 solute carrier family 18 member A3 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 VACHT solute carrier family 18 (vesicular acetylcholine transporter), member 3 Solute carriers 752 1995-06-01 2016-02-25 2016-10-05 6572 ENSG00000187714 OTTHUMG00000018196 uc001jhw.3 BC007765 NM_003055 CCDS7231 Q16572 8071310 MGI:1101061 RGD:62072 600336 SLC18A3 471070 objectId:1013 HGNC:10936 "ENST00000374115.5|NM_003055.3" HGNC:10936 +HGNC:21573 SLC18B1 solute carrier family 18 member B1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 dJ55C23.6 C6orf192 "chromosome 6 open reading frame 192|solute carrier family 18, subfamily B, member 1" Solute carriers 752 2003-11-26 2012-03-09 2016-02-17 2016-10-05 116843 ENSG00000146409 OTTHUMG00000015595 uc003qdw.2 AK124442 NM_052831 CCDS5163 Q6NT16 19697161 MGI:1923556 RGD:1306962 613361 SLC18B1 objectId:2556 HGNC:21573 "ENST00000275227.9|NM_052831.3" +HGNC:10937 SLC19A1 solute carrier family 19 member 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "FOLT|RFC1" "reduced folate carrier 1|Folate transporter 1" solute carrier family 19 (folate transporter), member 1 "Solute carriers|Minor histocompatibility antigens" "752|870" 1995-05-01 2016-02-17 2017-01-11 6573 ENSG00000173638 OTTHUMG00000090397 uc010gpy.1 U15939 NM_001205206 "CCDS13725|CCDS56217|CCDS56218" P41440 9570943 MGI:103182 RGD:3695 600424 SLC19A1 311352 objectId:1014 HGNC:10937 "ENST00000311124.9|NM_194255.4" +HGNC:10938 SLC19A2 solute carrier family 19 member 2 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 THTR1 TRMA solute carrier family 19 (thiamine transporter), member 2 Solute carriers 752 1999-04-09 2016-02-17 2016-10-05 10560 ENSG00000117479 OTTHUMG00000035452 uc001gge.5 AF135488 NM_006996 "CCDS81398|CCDS1280" O60779 "9399900|10391221" MGI:1928761 RGD:1308611 603941 SLC19A2 118762 objectId:1015 HGNC:10938 "ENST00000236137.10|NM_006996.3" HGNC:10938 +HGNC:16266 SLC19A3 solute carrier family 19 member 3 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 THTR2 thiamine transporter 2 "solute carrier family 19, member 3|solute carrier family 19 (thiamine transporter), member 3" Solute carriers 752 2001-07-19 2016-02-17 2017-04-20 80704 ENSG00000135917 OTTHUMG00000133185 uc002vpi.4 AF271633 NM_025243 CCDS2468 Q9BZV2 "11136550|15871139" MGI:1931307 RGD:1311413 606152 SLC19A3 118766 objectId:1016 HGNC:16266 "ENST00000644224.2|NM_025243.4" HGNC:16266 +HGNC:10946 SLC20A1 solute carrier family 20 member 1 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "PiT-1|Glvr-1|PiT1" gibbon ape leukemia virus receptor 1 GLVR1 solute carrier family 20 (phosphate transporter), member 1 Solute carriers 752 1989-10-18 2016-02-17 2021-03-09 6574 ENSG00000144136 OTTHUMG00000131317 uc002tib.4 NM_005415 CCDS2099 Q8WUM9 "8041748|16790504" MGI:108392 RGD:621079 137570 SLC20A1 objectId:1017 HGNC:10946 "ENST00000272542.8|NM_005415.5" +HGNC:55651 SLC20A1-DT SLC20A1 divergent transcript non-coding RNA RNA, long non-coding Approved 2q14.1 02q14.1 Divergent transcripts 1990 2021-06-28 2021-06-28 400999 ENSG00000237753 NR_033871 +HGNC:20051 SLC20A1P1 solute carrier family 20 member 1 pseudogene 1 pseudogene pseudogene Approved 14q32.33 14q32.33 solute carrier family 20 (phosphate transporter), member 1 pseudogene 1 2003-01-13 2016-02-17 2016-02-17 192127 ENSG00000223506 OTTHUMG00000151877 NG_001019 SLC20A1P1 PGOHUM00000247980 HGNC:20051 +HGNC:42539 SLC20A1P2 solute carrier family 20 member 1 pseudogene 2 pseudogene pseudogene Approved 14q32.33 14q32.33 solute carrier family 20 (phosphate transporter), member 1 pseudogene 2 2011-08-05 2016-02-17 2016-02-17 192128 ENSG00000273894 OTTHUMG00000188306 NG_001019 SLC20A1P2 PGOHUM00000292482 HGNC:42539 +HGNC:42538 SLC20A1P3 solute carrier family 20 member 1 pseudogene 3 pseudogene pseudogene Approved 15q11.1 15q11.1 solute carrier family 20 (phosphate transporter), member 1 pseudogene 3 2011-08-05 2016-02-17 2017-10-26 646052 ENSG00000258706 OTTHUMG00000171653 NG_021113 SLC20A1P3 PGOHUM00000292786 HGNC:42538 +HGNC:10947 SLC20A2 solute carrier family 20 member 2 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "PiT-2|Glvr-2|Ram-1" "MLVAR|GLVR2" "solute carrier family 20 (phosphate transporter), member 2|murine leukemia virus, amphotropic; receptor" Solute carriers 752 1993-06-18 2016-02-17 2016-03-16 6575 ENSG00000168575 OTTHUMG00000164169 uc003xpe.5 NM_001257180 CCDS6132 Q08357 "7745689|8041748|16790504" MGI:97851 RGD:3699 158378 SLC20A2 293028 objectId:1018 HGNC:10947 "ENST00000520262.6|NM_001257180.2" HGNC:10947 +HGNC:10963 SLC22A1 solute carrier family 22 member 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 OCT1 organic cation transporter 1 solute carrier family 22 (organic cation transporter), member 1 Solute carriers 752 1998-01-20 2016-02-17 2016-09-28 6580 ENSG00000175003 OTTHUMG00000015947 uc003qtc.4 U77086 NM_003057 "CCDS5274|CCDS5275" O15245 9605850 MGI:108111 RGD:3224 602607 SLC22A1 objectId:1019 HGNC:10963 "ENST00000366963.9|NM_003057.3" +HGNC:10966 SLC22A2 solute carrier family 22 member 2 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 OCT2 organic cation transporter 2 solute carrier family 22 (organic cation transporter), member 2 Solute carriers 752 1998-01-20 2016-02-17 2016-09-28 6582 ENSG00000112499 OTTHUMG00000015950 uc003qtf.4 X98333 NM_003058 CCDS5276 O15244 9605850 MGI:1335072 RGD:61936 602608 SLC22A2 471074 objectId:1020 HGNC:10966 "ENST00000366953.8|NM_003058.4" +HGNC:10967 SLC22A3 solute carrier family 22 member 3 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "OCT3|EMT" "organic cation transporter 3|extraneuronal monoamine transporter" "solute carrier family 22 (extraneuronal monoamine transporter), member 3|solute carrier family 22 (organic cation transporter), member 3" Solute carriers 752 1998-07-16 2016-02-17 2016-09-28 6581 ENSG00000146477 OTTHUMG00000015953 uc003qti.5 AF078749 NM_021977 CCDS5277 O75751 "9632645|9933568" MGI:1333817 RGD:3701 604842 SLC22A3 objectId:1021 HGNC:10967 "ENST00000275300.3|NM_021977.4" +HGNC:10968 SLC22A4 solute carrier family 22 member 4 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "OCTN1|MGC34546" DFNB60 "solute carrier family 22 (organic cation/ergothioneine transporter), member 4|solute carrier family 22 (organic cation/zwitterion transporter), member 4|deafness, autosomal recessive 60" Solute carriers 752 1998-07-16 2016-02-17 2016-10-13 6583 ENSG00000197208 OTTHUMG00000059648 uc003kwq.4 AB007448 NM_003059 CCDS4153 Q9H015 "9426230|15795384|27023905" MGI:1353479 RGD:621149 604190 SLC22A4 objectId:1022 HGNC:10968 "ENST00000200652.4|NM_003059.3" +HGNC:10969 SLC22A5 solute carrier family 22 member 5 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "OCTN2|SCD" CDSP solute carrier family 22 (organic cation/carnitine transporter), member 5 Solute carriers 752 1998-07-16 2016-02-17 2016-10-05 6584 ENSG00000197375 OTTHUMG00000059634 uc003kww.5 AF057164 NM_003060 "CCDS4154|CCDS78058" O76082 "9618255|9916797|9685390" MGI:1329012 RGD:3702 603377 SLC22A5 118781 objectId:1023 HGNC:10969 "ENST00000245407.8|NM_003060.4" HGNC:10969 +HGNC:10970 SLC22A6 solute carrier family 22 member 6 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "ROAT1|PAHT|OAT1" solute carrier family 22 (organic anion transporter), member 6 Solute carriers 752 1999-07-30 2016-02-17 2016-02-17 9356 ENSG00000197901 OTTHUMG00000167767 uc001nwj.4 AF057039 NM_004790 "CCDS44632|CCDS44631|CCDS8041|CCDS31591" Q4U2R8 "9762842|9950961" MGI:892001 RGD:69338 607582 SLC22A6 objectId:1025 HGNC:10970 "ENST00000360421.9|NM_153276.3" +HGNC:10971 SLC22A7 solute carrier family 22 member 7 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "NLT|OAT2" solute carrier family 22 (organic anion transporter), member 7 Solute carriers 752 1999-07-30 2016-02-17 2016-02-17 10864 ENSG00000137204 OTTHUMG00000014726 uc063oqz.1 AF097518 NM_006672 "CCDS4893|CCDS4892" Q9Y694 "9650585|10773670" MGI:1859559 RGD:621699 604995 SLC22A7 objectId:1026 HGNC:10971 "ENST00000372585.10|NM_153320.2" +HGNC:10972 SLC22A8 solute carrier family 22 member 8 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 OAT3 solute carrier family 22 (organic anion transporter), member 8 Solute carriers 752 1999-07-30 2016-02-17 2016-02-17 9376 ENSG00000149452 OTTHUMG00000167768 uc001nwo.4 "AF097491|BC022387" NM_004254 "CCDS8042|CCDS53644|CCDS53643" Q8TCC7 10049739 MGI:1336187 RGD:632286 607581 SLC22A8 objectId:1027 HGNC:10972 "ENST00000336232.7|NM_004254.4" +HGNC:16261 SLC22A9 solute carrier family 22 member 9 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "OAT4|FLJ23666|UST3|OAT7" solute carrier family 22 (organic anion transporter), member 9 Solute carriers 752 2002-01-31 2016-02-17 2016-02-17 114571 ENSG00000149742 OTTHUMG00000167805 uc001nww.4 AP001880 NM_080866 CCDS8043 Q8IVM8 "11327718|17393504" "MGI:2442751|MGI:2385316|MGI:3042283|MGI:3645714|MGI:3605624|MGI:2442750" RGD:621104 607579 SLC22A9 objectId:1028 HGNC:16261 "ENST00000279178.4|NM_080866.3" +HGNC:18057 SLC22A10 solute carrier family 22 member 10 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "OAT5|hOAT5" "solute carrier family 22 (organic anion/cation transporter), member 10|solute carrier family 22, member 10" Solute carriers 752 2002-01-30 2015-12-08 2015-12-08 387775 ENSG00000184999 OTTHUMG00000165197 uc009yor.4 AP003420 NM_001039752 CCDS41661 Q63ZE4 11327718 "MGI:2442750|MGI:2442751|MGI:3042283|MGI:3605624|MGI:3645714" RGD:1304605 607580 SLC22A10 objectId:1029 HGNC:18057 "ENST00000332793.11|NM_001039752.4" +HGNC:18120 SLC22A11 solute carrier family 22 member 11 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 OAT4 solute carrier family 22 (organic anion/urate transporter), member 11 Solute carriers 752 2002-01-31 2016-02-17 2016-10-05 55867 ENSG00000168065 OTTHUMG00000045142 uc001oai.4 AB026116 NM_018484 "CCDS8074|CCDS76425" Q9NSA0 "10660625|15576633|17229912" 607097 SLC22A11 objectId:1030 HGNC:18120 "ENST00000301891.9|NM_018484.4" +HGNC:17989 SLC22A12 solute carrier family 22 member 12 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "OAT4L|RST|URAT1" "solute carrier family 22 (organic anion/cation transporter), member 12|solute carrier family 22 (organic anion/urate transporter), member 12" Solute carriers 752 2002-07-31 2016-02-18 2016-02-18 116085 ENSG00000197891 OTTHUMG00000045213 uc001oam.3 AB071863 NM_144585 "CCDS8075|CCDS60836|CCDS60835" Q96S37 12024214 MGI:1195269 RGD:621628 607096 SLC22A12 166795 objectId:1031 HGNC:17989 "ENST00000377574.6|NM_144585.4" HGNC:17989 +HGNC:8494 SLC22A13 solute carrier family 22 member 13 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "OCTL1|OCTL3|OAT10" ORCTL3 "organic cationic transporter-like 3|solute carrier family 22 (organic anion transporter), member 13|solute carrier family 22 (organic anion/urate transporter), member 13" Solute carriers 752 1999-03-31 2003-10-15 2016-02-18 2016-02-18 9390 ENSG00000172940 OTTHUMG00000131086 uc003chz.4 AB010438 NM_004256 CCDS2676 Q9Y226 "10072596|18411268" MGI:2143107 RGD:1306840 604047 SLC22A13 objectId:1032 HGNC:8494 "ENST00000311856.9|NM_004256.4" +HGNC:8495 SLC22A14 solute carrier family 22 member 14 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 OCTL2 ORCTL4 "organic cationic transporter-like 4|solute carrier family 22 (organic cation transporter), member 14|solute carrier family 22, member 14" Solute carriers 752 1999-03-31 2003-10-15 2015-12-08 2016-10-05 9389 ENSG00000144671 OTTHUMG00000131082 uc010hhc.2 AB011082 NM_004803 CCDS2677 Q9Y267 10072596 MGI:2685974 RGD:1306470 604048 SLC22A14 objectId:1033 HGNC:8495 "ENST00000448498.6|NM_001320033.2" +HGNC:20301 SLC22A15 solute carrier family 22 member 15 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 FLIPT1 "solute carrier family 22 (organic cation transporter), member 15|solute carrier family 22, member 15" Solute carriers 752 2003-10-08 2015-12-08 2016-10-05 55356 ENSG00000163393 OTTHUMG00000012008 uc001egb.4 AY145501 NM_018420 CCDS44198 Q8IZD6 12372408 MGI:3607704 RGD:1311184 608275 SLC22A15 objectId:1034 HGNC:20301 "ENST00000369503.9|NM_018420.3" +HGNC:20302 SLC22A16 solute carrier family 22 member 16 protein-coding gene gene with protein product Approved 6q21 06q21 "FLIPT2|CT2|OKB1|OAT6" "solute carrier family 22 (organic cation transporter), member 16|solute carrier family 22 (organic cation/carnitine transporter), member 16" Solute carriers 752 2003-10-08 2016-02-18 2016-02-18 85413 ENSG00000004809 OTTHUMG00000016171 uc003puf.5 NM_033125 CCDS5084 Q86VW1 "12372408|12089149|17473959" MGI:1918090 RGD:1592810 608276 SLC22A16 objectId:1024 HGNC:20302 "ENST00000368919.8|NM_033125.4" +HGNC:23095 SLC22A17 solute carrier family 22 member 17 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "BOCT|BOIT|NGALR" neutrophil gelatinase-associated lipocalin receptor solute carrier family 22, member 17 Solute carriers 752 2003-09-24 2015-12-08 2015-12-08 51310 ENSG00000092096 OTTHUMG00000028740 uc058zqw.1 AJ243653 NM_020372 CCDS9593 Q8WUG5 16377569 MGI:1926225 RGD:631405 611461 SLC22A17 objectId:1035 HGNC:23095 +HGNC:10964 SLC22A18 solute carrier family 22 member 18 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "BWR1A|TSSC5|ITM" "ORCTL2|BWSCR1A|IMPT1|SLC22A1L" "solute carrier family 22 (organic cation transporter), member 1-like|solute carrier family 22, member 18" Solute carriers 752 1998-06-05 2004-01-21 2015-12-08 2021-04-13 5002 ENSG00000110628 OTTHUMG00000010037 uc001lwx.3 AF028738 NM_183233 "CCDS81542|CCDS7740" Q96BI1 "9499412|9520460" MGI:1336884 RGD:1303323 LRG_1054|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1054.xml 602631 SLC22A18 437689 objectId:1036 HGNC:10964 "ENST00000649076.2|NM_002555.6" +HGNC:10965 SLC22A18AS SLC22A18 antisense RNA non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 "BWR1B|p27-BWR1B|SLC22A18-AS1" "BWSCR1B|ORCTL2S|SLC22A1LS" "solute carrier family 22 (organic cation transporter), member 1-like antisense|solute carrier family 22 (organic cation transporter), member 18 antisense|solute carrier family 22 member 18 antisense" Antisense RNAs 1987 1998-05-27 2005-08-23 2021-10-19 2021-10-19 5003 ENSG00000254827 OTTHUMG00000010038 uc057xyv.2 AF035407 NR_169305 CCDS81541 Q8N1D0 "9570947|9520460|15175115" 603240 HGNC:10965 +HGNC:29867 SLC22A20P solute carrier family 22 member 20, pseudogene pseudogene pseudogene Approved 11q13.1 11q13.1 "Oat6|FLJ16331" SLC22A20 "solute carrier family 22, member 20|solute carrier family 22 member 20" Solute carriers 752 2007-01-19 2017-09-28 2017-09-28 2020-06-15 440044 ENSG00000197847 OTTHUMG00000165615 DQ053017 NR_033396 A6NK97 "15369770|16478971" MGI:2685809 RGD:1311460 611696 SLC22A20 PGOHUM00000257893 HGNC:29867 +HGNC:21106 SLC22A23 solute carrier family 22 member 23 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 FLJ22174 C6orf85 "chromosome 6 open reading frame 85|solute carrier family 22, member 23" Solute carriers 752 2003-05-20 2008-01-11 2015-12-08 2015-12-08 63027 ENSG00000137266 OTTHUMG00000014144 uc003mvm.5 AJ420525 NM_021945 "CCDS75389|CCDS34331|CCDS47363" A1A5C7 17714910 MGI:1920352 RGD:620302 611697 SLC22A23 objectId:1038 HGNC:21106 "ENST00000406686.8|NM_015482.2" +HGNC:28542 SLC22A24 solute carrier family 22 member 24 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "MGC34821|NET46" solute carrier family 22, member 24 Solute carriers 752 2008-01-11 2015-12-08 2015-12-08 283238 ENSG00000197658 OTTHUMG00000165372 uc021qkp.1 NM_173586 "CCDS76422|CCDS73308" Q8N4F4 17714910 611698 SLC22A24 objectId:1039 HGNC:28542 "ENST00000612278.4|NM_001136506.2" +HGNC:32935 SLC22A25 solute carrier family 22 member 25 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "UST6|HIMTP|MGC120420" "MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750|solute carrier family 22, member 25" Solute carriers 752 2008-01-11 2015-12-08 2015-12-08 387601 ENSG00000196600 OTTHUMG00000165340 uc001nwr.2 AY437532 NM_199352 CCDS31592 Q6T423 17714910 "MGI:2442751|MGI:2385316|MGI:3042283|MGI:3645714|MGI:3605624|MGI:2442750" 610792 SLC22A25 objectId:1040 HGNC:32935 "ENST00000306494.11|NM_199352.6" +HGNC:27091 SLC22A31 solute carrier family 22 member 31 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 solute carrier family 22, member 31 Solute carriers 752 2011-07-12 2015-12-08 2015-12-08 146429 ENSG00000259803 OTTHUMG00000175615 uc021tmr.1 NM_001242757 A6NKX4 SLC22A31 objectId:2557 HGNC:27091 "ENST00000682282.1|NM_001384763.1" +HGNC:10974 SLC23A1 solute carrier family 23 member 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "YSPL3|SVCT1" SLC23A2 "solute carrier family 23 (nucleobase transporters), member 2|solute carrier family 23 (ascorbic acid transporter), member 1" Solute carriers 752 1998-10-23 2003-03-21 2016-02-17 2016-02-17 9963 ENSG00000170482 OTTHUMG00000129228 uc003leg.4 AF058317 NM_152685 "CCDS4213|CCDS4212" Q9UHI7 "9804989|10331392" MGI:1341903 RGD:619875 603790 SLC23A1 objectId:1041 HGNC:10974 "ENST00000348729.8|NM_005847.5" +HGNC:10973 SLC23A2 solute carrier family 23 member 2 protein-coding gene gene with protein product Approved 20p13 20p13 "SVCT2|KIAA0238|YSPL2" SLC23A1 "solute carrier family 23 (nucleobase transporters), member 1|solute carrier family 23 (ascorbic acid transporter), member 2" Solute carriers 752 1999-08-13 2003-03-21 2016-02-17 2016-02-17 9962 ENSG00000089057 OTTHUMG00000031793 uc002wlh.1 AF058319 NM_005116 CCDS13085 Q9UGH3 "9804989|10331392" MGI:1859682 RGD:619876 603791 SLC23A2 objectId:1042 HGNC:10973 "ENST00000338244.6|NM_005116.6" +HGNC:20601 SLC23A3 solute carrier family 23 member 3 protein-coding gene gene with protein product Approved 2q35 02q35 "SVCT3|FLJ31168|Yspl1" solute carrier family 23, member 3 Solute carriers 752 2003-03-17 2015-12-08 2015-12-08 151295 ENSG00000213901 OTTHUMG00000154616 uc010zkr.3 BC030243 NM_144712 "CCDS46518|CCDS46517|CCDS42819" Q6PIS1 MGI:104516 RGD:1307402 SLC23A3 objectId:1043 HGNC:20601 "ENST00000409878.8|NM_001144889.2" +HGNC:20602 SLC23A4P solute carrier family 23 member 4, pseudogene pseudogene pseudogene Approved 7q33 07q33 SLC23A4 "solute carrier family 23 (nucleobase transporters), member 4|solute carrier family 23 (nucleobase transporters), member 4, pseudogene" Solute carriers 752 2003-03-24 2011-07-15 2016-02-17 2020-04-20 641842 ENSG00000276067 OTTHUMG00000187701 NG_006548 20042597 MGI:1917272 SLC23A4P PGOHUM00000263173 HGNC:20602 +HGNC:10975 SLC24A1 solute carrier family 24 member 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "NCKX1|NCKX|RODX|KIAA0702|HsT17412|CSNB1D" solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 Solute carriers 752 1999-02-18 2016-02-17 2016-02-17 9187 ENSG00000074621 OTTHUMG00000167960 uc010ujf.2 AF062922 NM_004727 "CCDS73743|CCDS73742|CCDS45284|CCDS73744" O60721 9856482 MGI:2384871 RGD:620080 603617 SLC24A1 244378 objectId:1045 HGNC:10975 "ENST00000261892.11|NM_004727.3" HGNC:10975 +HGNC:10976 SLC24A2 solute carrier family 24 member 2 protein-coding gene gene with protein product Approved 9p22.1 09p22.1 NCKX2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 Solute carriers 752 1999-02-18 2016-02-17 2016-02-17 25769 ENSG00000155886 OTTHUMG00000019646 uc003zoa.3 AF097366 NM_020344 "CCDS55297|CCDS6493" Q9UI40 10662833 MGI:1923626 RGD:628650 609838 SLC24A2 objectId:1046 HGNC:10976 "ENST00000341998.7|NM_020344.4" +HGNC:10977 SLC24A3 solute carrier family 24 member 3 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 Solute carriers 752 2000-07-31 2016-02-17 2016-10-05 57419 ENSG00000185052 OTTHUMG00000031993 uc002wrl.4 AF169257 NM_020689 CCDS13140 Q9HC58 MGI:2137513 RGD:69256 609839 SLC24A3 objectId:1047 HGNC:10977 "ENST00000328041.11|NM_020689.4" +HGNC:40540 SLC24A3-AS1 SLC24A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 Antisense RNAs 1987 2020-03-26 2020-03-26 2020-03-26 2020-03-26 100130264 ENSG00000179447 OTTHUMG00000031990 NR_024564 +HGNC:10978 SLC24A4 solute carrier family 24 member 4 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 NCKX4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 Solute carriers 752 2000-09-01 2016-02-17 2016-04-25 123041 ENSG00000140090 OTTHUMG00000167589 uc001yak.4 AF520704 NM_153646 "CCDS45155|CCDS45156|CCDS9903" Q8NFF2 MGI:2447362 RGD:1305926 609840 SLC24A4 328699 objectId:1048 HGNC:10978 "ENST00000532405.6|NM_153646.4" HGNC:10978 +HGNC:20611 SLC24A5 solute carrier family 24 member 5 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "JSX|OCA6" oculocutaneous albinism 6 (autosomal recessive) "solute carrier family 24, member 5|solute carrier family 24 (sodium/potassium/calcium exchanger), member 5" Solute carriers 752 2003-03-12 2016-02-17 2016-02-17 283652 ENSG00000188467 OTTHUMG00000131494 uc001zwe.4 AF348468 NM_205850 CCDS10128 Q71RS6 23364476 MGI:2677271 RGD:1310565 609802 SLC24A5 371844 objectId:1049 HGNC:20611 "ENST00000341459.8|NM_205850.3" HGNC:20611 +HGNC:10979 SLC25A1 solute carrier family 25 member 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 CTP SLC20A3 "solute carrier family 20 (mitochondrial citrate transporter), member 3|solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1" Solute carriers 752 1996-08-01 2016-02-18 2016-10-05 6576 ENSG00000100075 OTTHUMG00000150123 uc002zoz.6 U25147 NM_005984 "CCDS13758|CCDS74817" P53007 "8666394|9254007" MGI:1345283 RGD:3703 190315 SLC25A1 358443 objectId:1051 HGNC:10979 "ENST00000215882.10|NM_005984.5" HGNC:10979 +HGNC:43845 SLC25A1P1 solute carrier family 25 member 1 pseudogene 1 pseudogene pseudogene Approved 11q14.2 11q14.2 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 1 2012-03-29 2016-02-18 2016-02-18 100131457 ENSG00000254479 OTTHUMG00000166980 NG_021826 SLC25A1P1 PGOHUM00000242831 HGNC:43845 +HGNC:43847 SLC25A1P2 solute carrier family 25 member 1 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 2 2012-03-29 2016-02-18 2016-02-18 100133079 ENSG00000234467 OTTHUMG00000156383 NG_009439 SLC25A1P2 PGOHUM00000233319 HGNC:43847 +HGNC:43846 SLC25A1P3 solute carrier family 25 member 1 pseudogene 3 pseudogene pseudogene Approved 7q11.21 07q11.21 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 3 2012-03-29 2016-02-18 2016-02-18 644159 ENSG00000213645 OTTHUMG00000156555 NG_009405 SLC25A1P3 PGOHUM00000233347 HGNC:43846 +HGNC:43848 SLC25A1P4 solute carrier family 25 member 1 pseudogene 4 pseudogene pseudogene Approved 16p11.2 16p11.2 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 4 2012-03-29 2016-02-18 2016-02-18 100132355 ENSG00000261608 OTTHUMG00000176236 NG_022513 SLC25A1P4 PGOHUM00000249101 HGNC:43848 +HGNC:43849 SLC25A1P5 solute carrier family 25 member 1 pseudogene 5 pseudogene pseudogene Approved 19q11 19q11 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 5 2012-03-29 2016-02-18 2016-07-25 642290 ENSG00000267323 OTTHUMG00000180740 NG_021745 SLC25A1P5 PGOHUM00000294967 HGNC:43849 +HGNC:22921 SLC25A2 solute carrier family 25 member 2 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 ORNT2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 Solute carriers 752 2003-07-23 2016-02-18 2016-02-18 83884 ENSG00000120329 OTTHUMG00000129604 uc003ljf.3 AF332005 NM_031947 CCDS4258 Q9BXI2 11004451 MGI:2137907 RGD:1310667 608157 SLC25A2 objectId:1059 HGNC:22921 "ENST00000239451.7|NM_031947.4" +HGNC:10989 SLC25A3 solute carrier family 25 member 3 protein-coding gene gene with protein product Approved 12q23.1 12q23.1 PHC solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 "Solute carriers|Small nucleolar RNA protein coding host genes" "752|1835" 1993-05-14 2016-02-18 2016-02-18 5250 ENSG00000075415 OTTHUMG00000170212 uc001tfo.4 NM_005888 "CCDS9066|CCDS9065" Q00325 8168843 MGI:1353498 RGD:70986 600370 SLC25A3 158407 objectId:1061 HGNC:10989 "ENST00000552981.6|NM_002635.4" HGNC:10989 +HGNC:26869 SLC25A3P1 solute carrier family 25 member 3 pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 FLJ40434 "solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 pseudogene 1|solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1" 2012-03-02 2016-02-18 2021-10-07 163742 ENSG00000236253 OTTHUMG00000008078 NR_002314 SLC25A3P1 PGOHUM00000244036 HGNC:26869 +HGNC:43784 SLC25A3P2 solute carrier family 25 member 3 pseudogene 2 pseudogene pseudogene Approved 12q24.13 12q24.13 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 2 2012-03-02 2016-02-18 2016-02-18 100128618 ENSG00000258373 OTTHUMG00000169607 NG_021734 SLC25A3P2 PGOHUM00000239928 HGNC:43784 +HGNC:43785 SLC25A3P3 solute carrier family 25 member 3 pseudogene 3 pseudogene pseudogene Approved 18p11.32 18p11.32 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 2012-03-02 2016-02-18 2020-04-06 100422606 ENSG00000263505 OTTHUMG00000178373 NG_026266 SLC25A3P3 PGOHUM00000261247 HGNC:43785 +HGNC:10990 SLC25A4 solute carrier family 25 member 4 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 T1 "PEO3|PEO2|ANT1" solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 Solute carriers 752 1989-05-19 2016-02-18 2021-04-13 291 ENSG00000151729 OTTHUMG00000134299 uc003ixd.4 BC008664 NM_001151 CCDS34114 P12235 1582253 MGI:1353495 RGD:620352 LRG_441|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_441.xml 103220 SLC25A4 118807 objectId:1062 HGNC:10990 "ENST00000281456.11|NM_001151.4" HGNC:10990 +HGNC:10991 SLC25A5 solute carrier family 25 member 5 protein-coding gene gene with protein product Approved Xq24 Xq24 "T2|2F1|T3" ANT2 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 Solute carriers 752 1990-08-03 2016-02-18 2020-04-02 292 ENSG00000005022 OTTHUMG00000022715 uc004erh.5 BC068199 NM_001152 CCDS14578 P05141 "2168878|2829183" MGI:1353496 RGD:620353 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A5 300150 SLC25A5 objectId:1063 HGNC:10991 "ENST00000317881.9|NM_001152.5" HGNC:10991 +HGNC:43438 SLC25A5-AS1 SLC25A5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq24 Xq24 SLC25A5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-10-28 2012-08-15 2012-10-12 100303728 ENSG00000224281 OTTHUMG00000022273 uc004erg.2 NR_028443 SLC25A5-AS1 HGNC:43438 +HGNC:19250 SLC25A5P1 solute carrier family 25 member 5 pseudogene 1 pseudogene pseudogene Approved 22q13.2 22q13.2 bK250D10.4 ANTP3 "adenine nucleotide translocator pseudogene 3 (clone 13)|solute carrier family 25, member 5 pseudogene 1|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 1" 2002-09-18 2016-02-18 2016-02-18 266623 ENSG00000215347 OTTHUMG00000151288 NG_009276 SLC25A5P1 PGOHUM00000246341 HGNC:19250 +HGNC:35470 SLC25A5P2 solute carrier family 25 member 5 pseudogene 2 pseudogene pseudogene Approved 2p22.3 02p22.3 LOC344371 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 2 2009-02-25 2016-02-18 2016-02-18 344371 ENSG00000235064 OTTHUMG00000152137 NG_009264 SLC25A5P2 PGOHUM00000240010 HGNC:35470 +HGNC:507 SLC25A5P3 solute carrier family 25 member 5 pseudogene 3 pseudogene pseudogene Approved 7p11.2 07p11.2 ANTP1 "adenine nucleotide translocator pseudogene 1 (clone 29)|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 3" 1991-11-21 2009-02-25 2016-02-18 2016-02-18 222005 ENSG00000213673 OTTHUMG00000156066 NG_009279 2157297 SLC25A5P3 PGOHUM00000233235 HGNC:507 +HGNC:35471 SLC25A5P4 solute carrier family 25 member 5 pseudogene 4 pseudogene pseudogene Approved 13q21.1 13q21.1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 4 2009-02-25 2016-02-18 2016-02-18 100131027 ENSG00000234421 OTTHUMG00000016989 NG_009271 SLC25A5P4 PGOHUM00000256731 HGNC:35471 +HGNC:511 SLC25A5P5 solute carrier family 25 member 5 pseudogene 5 pseudogene pseudogene Approved 7p14.3 07p14.3 TCAG_29001 ANTP5 "adenine nucleotide translocator pseudogene 5 (clone 19)|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 5" 1991-11-21 2009-02-25 2016-02-18 2016-02-18 442525 ENSG00000226421 OTTHUMG00000152896 NG_009277 2157297 SLC25A5P5 PGOHUM00000233169 HGNC:511 +HGNC:512 SLC25A5P6 solute carrier family 25 member 5 pseudogene 6 pseudogene pseudogene Approved 4q35.2 04q35.2 ANTP6 "adenine nucleotide translocator pseudogene 6 (clone 3)|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 6" 1991-11-21 2009-02-25 2016-02-18 2016-02-18 644042 ENSG00000213332 OTTHUMG00000160314 NG_007588 2157297 SLC25A5P6 PGOHUM00000245790 HGNC:512 +HGNC:513 SLC25A5P7 solute carrier family 25 member 5 pseudogene 7 pseudogene pseudogene Approved 6q22.31 06q22.31 ANTP7 "adenine nucleotide translocator pseudogene 7 (clone 2)|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 7" 1991-11-21 2009-02-25 2016-02-18 2016-02-18 442255 ENSG00000218180 OTTHUMG00000015482 NG_009280 2157297 SLC25A5P7 PGOHUM00000243762 HGNC:513 +HGNC:35469 SLC25A5P8 solute carrier family 25 member 5 pseudogene 8 pseudogene pseudogene Approved 9p21.1 09p21.1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8 2009-02-25 2016-02-18 2016-02-18 392301 ENSG00000225347 OTTHUMG00000019739 NG_009270 SLC25A5P8 PGOHUM00000236006 HGNC:35469 +HGNC:35468 SLC25A5P9 solute carrier family 25 member 5 pseudogene 9 pseudogene pseudogene Approved 5q13.3 05q13.3 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 9 2009-02-25 2016-02-18 2016-02-18 100133074 ENSG00000251078 OTTHUMG00000162489 "AC025170|AC108120" NG_009302 SLC25A5P9 PGOHUM00000235278 HGNC:35468 +HGNC:10992 SLC25A6 solute carrier family 25 member 6 protein-coding gene gene with protein product Approved Xp22.32 and Yp11.3 Xp22.32 and Yp11.3 "ANT3Y|MGC17525" ANT3 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 "Pseudoautosomal region 1|Solute carriers" "715|752" 1990-08-03 2016-02-18 2020-04-02 293 ENSG00000169100 OTTHUMG00000021058 uc004fpg.4 AY007135 NM_001636 CCDS14114 P12236 RGD:1560896 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A6 "300151|403000" SLC25A6 objectId:1064 HGNC:10992 "ENST00000381401.11|NM_001636.4" +HGNC:16554 SLC25A6P1 solute carrier family 25 member 6 pseudogene 1 pseudogene pseudogene Approved 20p11.22 20p11.22 dJ1065O2.2 SLC25A5L "solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5-like|solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1" 2001-09-17 2003-10-24 2016-02-18 2016-02-18 128790 ENSG00000233015 OTTHUMG00000032031 NG_003107 SLC25A6P1 PGOHUM00000247463 HGNC:16554 +HGNC:43850 SLC25A6P2 solute carrier family 25 member 6 pseudogene 2 pseudogene pseudogene Approved 9p21.1 09p21.1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 2 2012-03-29 2016-02-18 2016-02-18 138412 ENSG00000232203 OTTHUMG00000019735 NG_005651 SLC25A6P2 PGOHUM00000236428 HGNC:43850 +HGNC:43852 SLC25A6P3 solute carrier family 25 member 6 pseudogene 3 pseudogene pseudogene Approved 1p32.3 01p32.3 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 3 2012-03-29 2016-02-18 2016-02-18 100422686 ENSG00000232846 OTTHUMG00000008962 NG_027091 SLC25A6P3 PGOHUM00000244716 HGNC:43852 +HGNC:43853 SLC25A6P4 solute carrier family 25 member 6 pseudogene 4 pseudogene pseudogene Approved 18q23 18q23 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 4 2012-03-29 2016-02-18 2016-02-18 100422690 ENSG00000266909 OTTHUMG00000180378 NG_026343 SLC25A6P4 PGOHUM00000235103 HGNC:43853 +HGNC:43854 SLC25A6P5 solute carrier family 25 member 6 pseudogene 5 pseudogene pseudogene Approved 9q31.2 09q31.2 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 5 2012-03-29 2016-02-18 2016-02-18 100129319 ENSG00000228948 OTTHUMG00000020431 NG_021673 SLC25A6P5 PGOHUM00000236747 HGNC:43854 +HGNC:43855 SLC25A6P6 solute carrier family 25 member 6 pseudogene 6 pseudogene pseudogene Approved 6q13 06q13 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 6 2012-03-29 2016-02-18 2016-02-18 100128312 ENSG00000218870 OTTHUMG00000014994 NG_022309 SLC25A6P6 PGOHUM00000243242 HGNC:43855 +HGNC:10980 SLC25A10 solute carrier family 25 member 10 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 DIC solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 Solute carriers 752 1998-07-08 2016-02-18 2016-02-18 1468 ENSG00000183048 OTTHUMG00000178173 uc002kbi.5 NM_001270888 "CCDS74176|CCDS59301|CCDS11786" Q9UBX3 "9733776|10072589" MGI:1353497 RGD:621430 606794 SLC25A10 objectId:1052 HGNC:10980 "ENST00000350690.10|NM_012140.5" HGNC:10980 +HGNC:10981 SLC25A11 solute carrier family 25 member 11 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 OGC SLC20A4 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 Solute carriers 752 1998-09-18 2016-02-18 2016-10-05 8402 ENSG00000108528 OTTHUMG00000099395 uc002fzo.3 X66114 NM_003562 "CCDS11059|CCDS54069" Q02978 "10072597|1457818" MGI:1915113 RGD:708476 604165 SLC25A11 objectId:1053 HGNC:10981 "ENST00000225665.12|NM_003562.5" HGNC:10981 +HGNC:10982 SLC25A12 solute carrier family 25 member 12 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 Aralar "solute carrier family 25 (mitochondrial carrier, Aralar), member 12|solute carrier family 25 (aspartate/glutamate carrier), member 12" "Solute carriers|EF-hand domain containing" "752|863" 1999-01-28 2016-02-18 2016-10-05 8604 ENSG00000115840 OTTHUMG00000134290 uc002uhh.4 Y14494 NM_003705 CCDS33327 O75746 "9722566|10702666|11566871" MGI:1926080 RGD:1305181 603667 SLC25A12 356212 objectId:1054 HGNC:10982 "ENST00000422440.7|NM_003705.5" HGNC:10982 +HGNC:10983 SLC25A13 solute carrier family 25 member 13 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "CITRIN|ARALAR2" mitochondrial aspartate glutamate carrier 2 CTLN2 "solute carrier family 25, member 13 (citrin)|solute carrier family 25 (aspartate/glutamate carrier), member 13" "Solute carriers|EF-hand domain containing|MicroRNA protein coding host genes" "752|863|1691" 1999-07-13 2016-02-18 2020-04-02 10165 ENSG00000004864 OTTHUMG00000023074 uc003uof.5 AF118838 NM_014251 "CCDS5645|CCDS55130" Q9UJS0 10369257 MGI:1354721 RGD:1565889 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A13 603859 SLC25A13 118786 objectId:1055 HGNC:10983 "ENST00000265631.10|NM_014251.3" HGNC:10983 +HGNC:10984 SLC25A14 solute carrier family 25 member 14 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "BMCP1|UCP5" solute carrier family 25 (mitochondrial carrier, brain), member 14 Solute carriers 752 1999-02-09 2016-02-18 2020-04-02 9016 ENSG00000102078 OTTHUMG00000022394 uc033eva.1 AF078544 "NM_022810|NM_003951" "CCDS76020|CCDS14623|CCDS14624|CCDS76021" O95258 9852133 MGI:1330823 RGD:621433 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A14 300242 SLC25A14 objectId:1070 HGNC:10984 "ENST00000545805.6|NM_001282195.2" +HGNC:43856 SLC25A14P1 solute carrier family 25 member 14 pseudogene 1 pseudogene pseudogene Approved 4q21.23 04q21.23 solute carrier family 25 (mitochondrial carrier, brain), member 14 pseudogene 1 2012-03-29 2016-02-18 2016-02-18 100288343 ENSG00000213608 OTTHUMG00000161154 NG_030222 SLC25A14P1 PGOHUM00000245987 HGNC:43856 +HGNC:10985 SLC25A15 solute carrier family 25 member 15 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "ORC1|D13S327" "ornithine transporter 1|ornithine carrier 1" "ORNT1|HHH" solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 "Solute carriers|MicroRNA protein coding host genes" "752|1691" 1999-06-28 2016-02-18 2020-04-02 10166 ENSG00000102743 OTTHUMG00000016776 uc001uxn.4 AF112968 NM_014252 CCDS9373 Q9Y619 10369256 MGI:1342274 RGD:1311488 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A15 603861 SLC25A15 118789 objectId:1060 HGNC:10985 "ENST00000338625.9|NM_014252.4" HGNC:10985 +HGNC:18497 SLC25A15P1 solute carrier family 25 member 15 pseudogene 1 pseudogene pseudogene Approved Yq11.23 Yq11.23 SLC25A15PY1 solute carrier family 25 member 15 pseudogene, Y-linked 1 SLC25A15P "solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 Y-linked pseudogene|solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 1" 2002-05-22 2010-02-24 2016-02-18 2016-10-05 100422624 ENSG00000227629 OTTHUMG00000036811 NG_024787 SLC25A15P1 PGOHUM00000233886 HGNC:18497 +HGNC:39843 SLC25A15P2 solute carrier family 25 member 15 pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 2 2011-04-01 2016-02-18 2016-02-18 100874522 ENSG00000237164 OTTHUMG00000016490 NG_032358 SLC25A15P2 PGOHUM00000248511 HGNC:39843 +HGNC:39844 SLC25A15P3 solute carrier family 25 member 15 pseudogene 3 pseudogene pseudogene Approved 13q12.13 13q12.13 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 3 2011-04-01 2016-02-18 2016-02-18 100422635 ENSG00000251299 OTTHUMG00000016593 NG_024903 SLC25A15P3 PGOHUM00000248543 HGNC:39844 +HGNC:39845 SLC25A15P4 solute carrier family 25 member 15 pseudogene 4 pseudogene pseudogene Approved 21p11.2 21p11.2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 4 2011-04-01 2016-02-18 2016-02-18 100422636 ENSG00000273872 OTTHUMG00000188293 NG_025052 SLC25A15P4 PGOHUM00000297200 HGNC:39845 +HGNC:39846 SLC25A15P5 solute carrier family 25 member 15 pseudogene 5 pseudogene pseudogene Approved 22q11.1 22q11.1 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 5 2011-04-01 2016-02-18 2016-02-18 100422642 ENSG00000249288 OTTHUMG00000142830 NG_027407 SLC25A15P5 PGOHUM00000246199 HGNC:39846 +HGNC:10986 SLC25A16 solute carrier family 25 member 16 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "GDA|D10S105E|HGT.1|ML7" Graves disease autoantigen solute carrier family 25 (mitochondrial carrier), member 16 Solute carriers 752 1999-07-30 2016-02-18 2016-10-05 8034 ENSG00000122912 OTTHUMG00000018354 uc001joi.4 M31659 NM_001324312 CCDS7280 P16260 "8444471|2575220" MGI:1920382 RGD:1311311 139080 SLC25A16 objectId:1071 HGNC:10986 "ENST00000609923.6|NM_152707.4" +HGNC:10987 SLC25A17 solute carrier family 25 member 17 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 PMP34 peroxisomal membrane protein (34kD) "solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17|solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17" "Solute carriers|MicroRNA protein coding host genes" "752|1691" 1999-07-30 2016-02-18 2016-02-18 10478 ENSG00000100372 OTTHUMG00000151139 uc003azc.5 Y12860 NM_006358 "CCDS74868|CCDS14005" O43808 9874197 MGI:1342248 RGD:1311498 606795 SLC25A17 objectId:1072 HGNC:10987 "ENST00000435456.7|NM_006358.4" +HGNC:10988 SLC25A18 solute carrier family 25 member 18 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "solute carrier family 25 (mitochondrial carrier), member 18|solute carrier family 25 (glutamate carrier), member 18" Solute carriers 752 2000-01-31 2016-02-18 2016-10-05 83733 ENSG00000182902 OTTHUMG00000150089 uc002zmp.2 AY008285 NM_031481 CCDS13744 Q9H1K4 "11381032|11897791" MGI:1919053 RGD:1590470 609303 SLC25A18 objectId:1056 HGNC:10988 "ENST00000327451.11|NM_031481.3" +HGNC:43857 SLC25A18P1 solute carrier family 25 member 18 pseudogene 1 pseudogene pseudogene Approved 10q26.11 10q26.11 "solute carrier family 25 (mitochondrial carrier), member 18 pseudogene 1|solute carrier family 25 (glutamate carrier), member 18 pseudogene 1" 2012-03-29 2016-02-18 2016-02-18 106480776 ENSG00000234309 OTTHUMG00000019134 NG_043978 SLC25A18P1 PGOHUM00000238935 HGNC:43857 +HGNC:14409 SLC25A19 solute carrier family 25 member 19 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "DNC|MUP1|TPC" MCPHA "solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19|microcephaly, Amish|solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19" Solute carriers 752 2001-09-27 2016-02-18 2016-02-18 60386 ENSG00000125454 OTTHUMG00000179607 uc002jnt.5 NM_021734 CCDS11720 Q9HC21 "11474176|11226231|19798730" MGI:1914533 RGD:1359554 606521 SLC25A19 118794 objectId:1073 HGNC:14409 "ENST00000416858.7|NM_001126121.2" HGNC:14409 +HGNC:1421 SLC25A20 solute carrier family 25 member 20 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 CAC "carnitine-acylcarnitine carrier|carnitine/acylcarnitine translocase" CACT solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 Solute carriers 752 1997-08-18 2016-02-18 2020-09-17 788 ENSG00000178537 OTTHUMG00000133538 uc003cva.5 Y10319 NM_000387 CCDS2779 O43772 "9399886|9533014" MGI:1928738 RGD:621443 613698 SLC25A20 118799 objectId:1076 HGNC:1421 "ENST00000319017.5|NM_000387.6" HGNC:1421 +HGNC:1422 SLC25A20P1 solute carrier family 25 member 20 pseudogene 1 pseudogene pseudogene Approved 6p12.2 06p12.2 "CACTP|SLC25A20P" "solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene|solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene 1" 1997-10-27 2010-02-24 2016-02-18 2016-10-05 789 ENSG00000218363 OTTHUMG00000014843 AJ000401 XM_167131 SLC25A20P1 PGOHUM00000243639 HGNC:1422 +HGNC:14411 SLC25A21 solute carrier family 25 member 21 protein-coding gene gene with protein product Approved 14q13.3 14q13.3 "ODC1|ODC" "solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21|solute carrier family 25 (mitochondrial oxoadipate carrier), member 21" "Solute carriers|MicroRNA protein coding host genes" "752|1691" 2001-01-18 2016-02-18 2016-02-18 89874 ENSG00000183032 OTTHUMG00000140250 uc001wtz.3 AJ278148 NM_030631 "CCDS9663|CCDS55913" Q9BQT8 11083877 MGI:2445059 RGD:621444 607571 SLC25A21 470814 objectId:1057 HGNC:14411 "ENST00000331299.6|NM_030631.4" HGNC:14411 +HGNC:44298 SLC25A21-AS1 SLC25A21 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q13.3 14q13.3 Antisense RNAs 1987 2013-05-29 2016-09-26 100129794 ENSG00000258708 OTTHUMG00000170737 NR_033240 SLC25A21-AS1 HGNC:44298 +HGNC:19954 SLC25A22 solute carrier family 25 member 22 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "GC1|FLJ13044|NET44|EIEE3" solute carrier family 25 (mitochondrial carrier: glutamate), member 22 Solute carriers 752 2002-12-10 2016-02-18 2016-02-18 79751 ENSG00000177542 OTTHUMG00000133310 uc001lrj.4 AJ428202 NM_001191060 CCDS7715 Q9H936 11897791 MGI:1915517 RGD:1307826 609302 SLC25A22 118803 objectId:1058 HGNC:19954 "ENST00000628067.3|NM_001191061.2" HGNC:19954 +HGNC:19375 SLC25A23 solute carrier family 25 member 23 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLJ30339|MGC2615|APC2" solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 "Solute carriers|EF-hand domain containing" "752|863" 2004-05-05 2016-02-18 2016-10-05 79085 ENSG00000125648 OTTHUMG00000180852 uc002mex.2 AJ619962 NM_024103 CCDS32882 Q9BV35 15123600 MGI:1914222 RGD:1588586 608746 SLC25A23 objectId:1078 HGNC:19375 "ENST00000301454.9|NM_024103.3" +HGNC:20662 SLC25A24 solute carrier family 25 member 24 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "DKFZp586G0123|APC1" solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 "Solute carriers|EF-hand domain containing" "752|863" 2004-05-05 2016-02-18 2016-10-05 29957 ENSG00000085491 OTTHUMG00000011013 uc001dvn.6 AJ619961 NM_013386 "CCDS786|CCDS41361" Q6NUK1 15123600 MGI:1917160 RGD:1311982 608744 SLC25A24 objectId:1077 HGNC:20662 "ENST00000565488.6|NM_013386.5" HGNC:20662 +HGNC:48933 SLC25A24P1 SLC25A24 pseudogene 1 pseudogene pseudogene Approved 1p13.3 01p13.3 2013-07-15 2013-07-15 727941 ENSG00000241361 OTTHUMG00000011320 NG_027806 PGOHUM00000244833 HGNC:48933 +HGNC:48934 SLC25A24P2 SLC25A24 pseudogene 2 pseudogene pseudogene Approved 1p13.3 01p13.3 2013-07-15 2013-07-15 100422608 ENSG00000238118 OTTHUMG00000039831 NG_026966 PGOHUM00000244135 HGNC:48934 +HGNC:20663 SLC25A25 solute carrier family 25 member 25 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "KIAA1896|PCSCL|MCSC" solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 "Solute carriers|EF-hand domain containing" "752|863" 2004-05-05 2016-02-18 2016-10-05 114789 ENSG00000148339 OTTHUMG00000020736 uc004bte.5 AJ619963 NM_052901 "CCDS59146|CCDS35151|CCDS6890|CCDS48031|CCDS83420" Q6KCM7 15123600 MGI:1915913 RGD:628666 608745 SLC25A25 objectId:1079 HGNC:20663 "ENST00000373069.10|NM_001330988.2" +HGNC:27844 SLC25A25-AS1 SLC25A25 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 HRCEG HDAC1 regulated RNA affecting cell proliferation and EMT transition in gastric cancer Antisense RNAs 1987 2014-08-01 2020-01-30 100289019 ENSG00000234771 OTTHUMG00000020737 "AL833509|BU623777|CA447407" NR_033374 "27553025|31964588" SLC25A25-AS1 HGNC:27844 +HGNC:20661 SLC25A26 solute carrier family 25 member 26 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26|solute carrier family 25 (S-adenosylmethionine carrier), member 26" Solute carriers 752 2003-12-22 2016-02-18 2016-10-05 115286 ENSG00000144741 OTTHUMG00000149917 uc011bfq.2 AJ580932 NM_173471 "CCDS54604|CCDS2905" Q70HW3 14674884 MGI:1914832 RGD:1308811 611037 SLC25A26 476887 objectId:1074 HGNC:20661 "ENST00000354883.11|NM_001379210.1" HGNC:20661 +HGNC:21065 SLC25A27 solute carrier family 25 member 27 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "UCP4|FLJ33552" solute carrier family 25, member 27 Solute carriers 752 2003-10-08 2015-12-08 2015-12-08 9481 ENSG00000153291 OTTHUMG00000014786 uc003oyh.4 AK090871 NM_004277 "CCDS56431|CCDS43470" O95847 "10025957|10772343" MGI:1921261 RGD:620787 613725 SLC25A27 objectId:1069 HGNC:21065 "ENST00000371347.10|NM_004277.5" +HGNC:23472 SLC25A28 solute carrier family 25 member 28 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "MRS3/4|MRS4L" mitoferrin 2 "solute carrier family 25, member 28|solute carrier family 25 (mitochondrial iron transporter), member 28" Solute carriers 752 2003-11-19 2016-02-18 2016-02-18 81894 ENSG00000155287 OTTHUMG00000018886 uc001kpx.3 AF327402 NM_031212 CCDS41559 Q96A46 11297739 MGI:2180509 RGD:1584155 609767 SLC25A28 objectId:1080 HGNC:23472 "ENST00000370495.6|NM_031212.4" +HGNC:55979 SLC25A28-DT SLC25A28 divergent transcript non-coding RNA RNA, long non-coding Approved 10q24.2 10q24.2 Divergent transcripts 1990 2021-11-12 2021-11-12 123466211 ENSG00000260475 +HGNC:20116 SLC25A29 solute carrier family 25 member 29 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 FLJ38975 C14orf69 "chromosome 14 open reading frame 69|solute carrier family 25, member 29|solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29" Solute carriers 752 2002-12-18 2004-01-21 2016-02-18 2016-02-18 123096 ENSG00000197119 OTTHUMG00000171569 uc001yha.4 AK095532 NM_001039355 CCDS32156 Q8N8R3 MGI:2444911 RGD:1308104 615064 SLC25A29 objectId:1081 HGNC:20116 "ENST00000359232.8|NM_001039355.3" +HGNC:27371 SLC25A30 solute carrier family 25 member 30 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 solute carrier family 25, member 30 Solute carriers 752 2004-05-06 2015-12-08 2018-11-19 253512 ENSG00000174032 OTTHUMG00000016853 uc001vag.5 AK074457 NM_001010875 "CCDS31967|CCDS66539" Q5SVS4 MGI:1914804 RGD:1359702 610793 SLC25A30 objectId:1082 HGNC:27371 "ENST00000519676.6|NM_001010875.4" +HGNC:42795 SLC25A30-AS1 SLC25A30 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.13 13q14.13 SLC25A30 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-16 2012-08-15 2014-11-19 100874259 ENSG00000251015 OTTHUMG00000163473 uc058wvj.1 NR_047031 SLC25A30-AS1 HGNC:42795 +HGNC:25319 SLC25A31 solute carrier family 25 member 31 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "DKFZP434N1235|ANT4" solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 Solute carriers 752 2005-02-15 2016-02-18 2016-10-05 83447 ENSG00000151475 OTTHUMG00000133300 uc003ifl.4 AL136857 NM_031291 CCDS3733 Q9H0C2 15670820 MGI:1920583 RGD:1596195 610796 SLC25A31 objectId:1065 HGNC:25319 "ENST00000281154.6|NM_031291.4" +HGNC:29683 SLC25A32 solute carrier family 25 member 32 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 MFTC "solute carrier family 25, member 32|solute carrier family 25 (mitochondrial folate carrier), member 32" Solute carriers 752 2005-10-03 2016-02-18 2016-02-18 81034 ENSG00000164933 OTTHUMG00000164790 uc003yll.5 AF283645 NM_030780 CCDS6300 Q9H2D1 10978331 MGI:1917156 RGD:1565789 138480 SLC25A32 471076 objectId:1083 HGNC:29683 "ENST00000297578.9|NM_030780.5" HGNC:29683 +HGNC:29681 SLC25A33 solute carrier family 25 member 33 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "MGC4399|BMSC-MCP|PNC1" "solute carrier family 25, member 33|solute carrier family 25 (pyrimidine nucleotide carrier), member 33" Solute carriers 752 2006-09-21 2016-02-18 2016-02-18 84275 ENSG00000171612 OTTHUMG00000001322 uc001apw.4 AF495714 NM_032315 CCDS103 Q9BSK2 "14715278|16949250" MGI:1917806 RGD:1583942 610816 SLC25A33 objectId:1084 HGNC:29681 "ENST00000302692.7|NM_032315.3" +HGNC:27653 SLC25A34 solute carrier family 25 member 34 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 DKFZp781A10161 solute carrier family 25, member 34 Solute carriers 752 2005-06-03 2015-12-08 2016-10-05 284723 ENSG00000162461 OTTHUMG00000003063 uc001axb.2 BC027998 NM_207348 CCDS162 Q6PIV7 MGI:2686215 RGD:1359157 610817 SLC25A34 objectId:1085 HGNC:27653 "ENST00000294454.6|NM_207348.3" +HGNC:53623 SLC25A34-AS1 SLC25A34 and TMEM82 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 RP11-169K16.4 Antisense RNAs 1987 2017-07-26 2017-07-26 110806303 ENSG00000224459 OTTHUMG00000003078 NR_149050 28706138 HGNC:53623 +HGNC:31921 SLC25A35 solute carrier family 25 member 35 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ40217 solute carrier family 25, member 35 Solute carriers 752 2005-06-03 2015-12-08 2015-12-08 399512 ENSG00000125434 OTTHUMG00000178480 uc002gla.5 AY498866 NM_201520 "CCDS11138|CCDS82067" Q3KQZ1 MGI:1919248 RGD:1598229 610818 SLC25A35 objectId:1086 HGNC:31921 "ENST00000577745.2|NM_001320870.2" +HGNC:25554 SLC25A36 solute carrier family 25 member 36 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ10618|PNC2" "solute carrier family 25, member 36|solute carrier family 25 (pyrimidine nucleotide carrier), member 36" Solute carriers 752 2005-06-03 2016-02-18 2016-02-18 55186 ENSG00000114120 OTTHUMG00000160260 uc003ets.3 AK001480 NM_018155 "CCDS46927|CCDS3114" Q96CQ1 MGI:1924909 RGD:1591928 616149 SLC25A36 objectId:1087 HGNC:25554 "ENST00000324194.12|NM_001104647.3" +HGNC:48935 SLC25A36P1 SLC25A36 pseudogene 1 pseudogene pseudogene Approved 19q13.43 19q13.43 2013-07-15 2013-07-15 106480240 ENSG00000267781 OTTHUMG00000182175 NG_043810 PGOHUM00000234803 HGNC:48935 +HGNC:29786 SLC25A37 solute carrier family 25 member 37 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "MSCP|MFRN|MFRN1|HT015" "mitoferrin|Mitoferrin-1|Mitochondrial iron transporter 1|Mitochondrial solute carrier protein" "solute carrier family 25, member 37|solute carrier family 25 (mitochondrial iron transporter), member 37" Solute carriers 752 2005-06-03 2016-02-18 2016-12-13 51312 ENSG00000147454 OTTHUMG00000163865 uc003xds.4 AF495725 NM_016612 CCDS47828 Q9NYZ2 16511496 MGI:1914962 RGD:1359361 610387 SLC25A37 objectId:1088 HGNC:29786 "ENST00000519973.6|NM_016612.4" +HGNC:26054 SLC25A38 solute carrier family 25 member 38 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ20551 solute carrier family 25, member 38 Solute carriers 752 2006-09-21 2015-12-08 2021-04-13 54977 ENSG00000144659 OTTHUMG00000131289 uc003cjo.3 BC013194 NM_017875 CCDS2685 Q96DW6 16949250 MGI:2384782 RGD:1311914 LRG_1133|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1133.xml 610819 SLC25A38 200717 objectId:1089 HGNC:26054 "ENST00000650617.1|NM_017875.4" HGNC:26054 +HGNC:43858 SLC25A38P1 solute carrier family 25 member 38 pseudogene 1 pseudogene pseudogene Approved 1q24.3 01q24.3 2012-03-29 2016-02-18 2016-02-18 441915 ENSG00000229785 OTTHUMG00000034836 NG_006910 SLC25A38P1 PGOHUM00000245087 HGNC:43858 +HGNC:24279 SLC25A39 solute carrier family 25 member 39 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "FLJ22407|CGI-69" solute carrier family 25, member 39 Solute carriers 752 2006-09-21 2015-12-08 2016-10-05 51629 ENSG00000013306 OTTHUMG00000132628 uc002igm.3 BC096819 NM_016016 "CCDS45700|CCDS11482|CCDS82138" Q9BZJ4 16949250 MGI:1196386 RGD:1306193 610820 SLC25A39 objectId:1090 HGNC:24279 "ENST00000377095.10|NM_001143780.3" +HGNC:43859 SLC25A39P1 solute carrier family 25 member 39 pseudogene 1 pseudogene pseudogene Approved 1q32.1 01q32.1 2012-03-29 2016-02-18 2016-02-18 100420877 ENSG00000226148 OTTHUMG00000041390 NG_027188 SLC25A39P1 PGOHUM00000245161 HGNC:43859 +HGNC:48936 SLC25A39P2 SLC25A39 pseudogene 2 pseudogene pseudogene Approved 12p13.2 12p13.2 2013-07-15 2013-07-15 107126289 ENSG00000257016 OTTHUMG00000168534 NG_046624 PGOHUM00000239333 HGNC:48936 +HGNC:29680 SLC25A40 solute carrier family 25 member 40 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 MCFP solute carrier family 25, member 40 Solute carriers 752 2006-09-21 2015-12-08 2015-12-08 55972 ENSG00000075303 OTTHUMG00000131033 uc003uje.4 AF125531 NM_018843 CCDS5610 Q8TBP6 16949250 MGI:2442486 RGD:1308774 610821 SLC25A40 objectId:1091 HGNC:29680 "ENST00000341119.10|NM_018843.4" +HGNC:28533 SLC25A41 solute carrier family 25 member 41 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLJ40442|MGC34725|APC4" solute carrier family 25, member 41 Solute carriers 752 2006-09-21 2015-12-08 2015-12-08 284427 ENSG00000181240 OTTHUMG00000180851 uc010dus.4 AK097761 NM_173637 CCDS45937 Q8N5S1 16949250 MGI:2144215 RGD:1588585 610822 SLC25A41 objectId:1092 HGNC:28533 "ENST00000321510.7|NM_173637.4" +HGNC:28380 SLC25A42 solute carrier family 25 member 42 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MGC26694 solute carrier family 25, member 42 Solute carriers 752 2006-09-21 2015-12-08 2015-12-08 284439 ENSG00000181035 OTTHUMG00000183280 uc002nlf.5 NM_178526 CCDS32966 Q86VD7 "16949250|19429682" MGI:1920345 RGD:1592346 610823 SLC25A42 objectId:1075 HGNC:28380 "ENST00000318596.8|NM_178526.5" HGNC:28380 +HGNC:30557 SLC25A43 solute carrier family 25 member 43 protein-coding gene gene with protein product Approved Xq24 Xq24 solute carrier family 25, member 43 Solute carriers 752 2006-09-21 2015-12-08 2020-04-02 203427 ENSG00000077713 OTTHUMG00000022272 uc004erd.4 BC019584 NM_145305 CCDS14577 Q8WUT9 16949250 MGI:2684854 RGD:1559928 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC25A43 300641 SLC25A43 objectId:1093 HGNC:30557 "ENST00000217909.8|NM_145305.3" +HGNC:29036 SLC25A44 solute carrier family 25 member 44 protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ90431|KIAA0446" solute carrier family 25, member 44 Solute carriers 752 2006-09-21 2015-12-08 2015-12-08 9673 ENSG00000160785 OTTHUMG00000014816 uc001fnp.5 AB007915 NM_014655 "CCDS1133|CCDS72943" Q96H78 16949250 MGI:2444391 RGD:1307244 610824 SLC25A44 objectId:1094 HGNC:29036 "ENST00000359511.5|NM_014655.4" +HGNC:27442 SLC25A45 solute carrier family 25 member 45 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 solute carrier family 25, member 45 Solute carriers 752 2006-09-21 2015-12-08 2015-12-08 283130 ENSG00000162241 OTTHUMG00000166255 uc001odr.1 BC041100 NM_182556 "CCDS76431|CCDS60850|CCDS41671|CCDS41670" Q8N413 16949250 MGI:2147731 RGD:1589953 610825 SLC25A45 objectId:1095 HGNC:27442 "ENST00000398802.6|NM_182556.4" +HGNC:25198 SLC25A46 solute carrier family 25 member 46 protein-coding gene gene with protein product Approved 5q22.1 05q22.1 solute carrier family 25, member 46 Solute carriers 752 2006-09-21 2015-12-08 2021-04-13 91137 ENSG00000164209 OTTHUMG00000128794 uc003koz.5 BC017169 NM_138773 "CCDS4100|CCDS78045" Q96AG3 "1651562|1651563|16949250" MGI:1914703 RGD:1305072 LRG_1091|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1091.xml 610826 SLC25A46 436878 objectId:1096 HGNC:25198 "ENST00000355943.8|NM_138773.4" HGNC:25198 +HGNC:20115 SLC25A47 solute carrier family 25 member 47 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 HDCMP HCC down-regulated mitochondrial carrier protein C14orf68 "chromosome 14 open reading frame 68|solute carrier family 25, member 47" Solute carriers 752 2003-01-13 2010-07-19 2015-12-08 2021-04-06 283600 ENSG00000140107 OTTHUMG00000171571 uc001yhc.4 NM_001350877 "CCDS86432|CCDS9959" Q6Q0C1 "19303656|15322095" MGI:2144766 RGD:1303247 609911 SLC25A47 objectId:2558 HGNC:20115 "ENST00000361529.5|NM_207117.4" +HGNC:43860 SLC25A47P1 solute carrier family 25 member 47 pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 2012-03-29 2016-02-18 2016-02-18 105369316 ENSG00000254799 OTTHUMG00000167415 NG_046696 SLC25A47P1 PGOHUM00000261833 HGNC:43860 +HGNC:30451 SLC25A48 solute carrier family 25 member 48 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ44862 solute carrier family 25, member 48 Solute carriers 752 2010-07-19 2015-12-08 2021-04-06 153328 ENSG00000145832 OTTHUMG00000157007 uc063hex.1 NM_145282 "CCDS43366|CCDS87323" Q6ZT89 MGI:2145373 RGD:1563703 616150 SLC25A48 objectId:2559 HGNC:30451 "ENST00000681962.1|NM_001349336.2" +HGNC:27965 SLC25A48-AS1 SLC25A48 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 LINC01959 long intergenic non-protein coding RNA 1959 Antisense RNAs 1987 2016-12-09 2019-05-17 2019-05-17 2019-05-17 340074 ENSG00000251045 OTTHUMG00000163111 NR_027127 12477932 HGNC:27965 +HGNC:23323 SLC25A51 solute carrier family 25 member 51 protein-coding gene gene with protein product Approved 9p13.2-p13.1 09p13.2-p13.1 "MGC14836|CG7943" mitochondrial NAD+ transporter MCART1 "mitochondrial carrier triple repeat 1|solute carrier family 25, member 51" Solute carriers 752 2003-11-07 2012-03-29 2015-12-08 2020-09-15 92014 ENSG00000122696 OTTHUMG00000019935 uc064tdr.1 BC008500 NM_033412 CCDS6614 Q9H1U9 32906142 MGI:2684984 RGD:6502452 619153 SLC25A51 objectId:2560 HGNC:23323 "ENST00000242275.7|NM_033412.4" +HGNC:23325 SLC25A51P1 SLC25A51 pseudogene 1 pseudogene pseudogene Approved 6q12 06q12 bA707M13.1 MCART3P "mitochondrial carrier triple repeat 3 pseudogene|solute carrier family 25 member 51 pseudogene 1" 2003-11-07 2012-03-29 2019-05-09 2020-04-20 442229 ENSG00000220483 OTTHUMG00000014975 NR_026540 SLC25A51P1 PGOHUM00000243661 HGNC:23325 +HGNC:23327 SLC25A51P2 SLC25A51 pseudogene 2 pseudogene pseudogene Approved 18p11.31 18p11.31 MCART4P "mitochondrial carrier triple repeat 4 pseudogene|solute carrier family 25 member 51 pseudogene 2" 2003-11-07 2012-03-29 2019-05-09 2020-04-20 645423 ENSG00000263716 OTTHUMG00000178877 NG_009212 SLC25A51P2 PGOHUM00000234980 HGNC:23327 +HGNC:31051 SLC25A51P3 SLC25A51 pseudogene 3 pseudogene pseudogene Approved 8q21.13 08q21.13 MCART5P "mitochondrial carrier triple repeat 5 pseudogene|solute carrier family 25 member 51 pseudogene 3" 2004-03-02 2012-03-29 2019-05-09 2020-04-20 100128119 ENSG00000254181 OTTHUMG00000164578 NG_009213 SLC25A51P3 PGOHUM00000249402 HGNC:31051 +HGNC:54321 SLC25A51P4 SLC25A51 pseudogene 4 pseudogene pseudogene Approved 11p15.1 11p15.1 2019-05-09 2019-05-09 2019-05-09 494141 ENSG00000189332 NR_026541 HGNC:54321 +HGNC:23324 SLC25A52 solute carrier family 25 member 52 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 MCART2 "mitochondrial carrier triple repeat 2|solute carrier family 25, member 52" Solute carriers 752 2003-11-07 2012-03-29 2015-12-08 2018-11-19 147407 ENSG00000141437 OTTHUMG00000179617 uc002kxa.4 NM_001034172 CCDS32812 Q3SY17 MGI:2684984 616153 SLC25A52 objectId:2561 HGNC:23324 "ENST00000269205.7|NM_001034172.4" +HGNC:31894 SLC25A53 solute carrier family 25 member 53 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 MCART6 "mitochondrial carrier triple repeat 6|solute carrier family 25, member 53" Solute carriers 752 2005-03-22 2012-03-29 2015-12-08 2015-12-08 401612 ENSG00000269743 OTTHUMG00000022124 uc022cbz.2 NM_001012755 CCDS35363 Q5H9E4 MGI:1914312 RGD:1591860 300941 SLC25A53 objectId:2562 HGNC:31894 "ENST00000594199.3|NM_001012755.5" +HGNC:55040 SLC25A53P1 SLC25A53 pseudogene 1 pseudogene pseudogene Approved Xq22.2 Xq22.2 2020-06-03 2020-06-03 644261 ENSG00000230312 NG_022686 +HGNC:10993 SLC26A1 solute carrier family 26 member 1 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "SAT-1|EDM4" "solute carrier family 26 (sulfate transporter), member 1|solute carrier family 26 (anion exchanger), member 1" Solute carriers 752 1999-07-30 2016-02-17 2016-02-17 10861 ENSG00000145217 OTTHUMG00000160003 uc003gcb.5 AF297659 "NM_022042|NM_134425" "CCDS33934|CCDS33933" Q9H2B4 MGI:2385894 RGD:620136 610130 SLC26A1 objectId:1097 HGNC:10993 "ENST00000398516.3|NM_022042.4" HGNC:10993 +HGNC:10994 SLC26A2 solute carrier family 26 member 2 protein-coding gene gene with protein product Approved 5q32 05q32 DTDST DTD "solute carrier family 26 (sulfate transporter), member 2|solute carrier family 26 (anion exchanger), member 2" Solute carriers 752 1990-09-10 2016-02-17 2021-04-13 1836 ENSG00000155850 OTTHUMG00000130054 uc003lrh.4 U14528 NM_000112 CCDS4300 P50443 7923357 MGI:892977 RGD:620622 LRG_684|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_684.xml 606718 SLC26A2 118813 objectId:1098 HGNC:10994 "ENST00000286298.5|NM_000112.4" HGNC:10994 +HGNC:3018 SLC26A3 solute carrier family 26 member 3 protein-coding gene gene with protein product Approved 7q22.3-q31.1 07q22.3-q31.1 "DRA|CLD" "congenital chloride diarrhea|solute carrier family 26, member 3|solute carrier family 26 (anion exchanger), member 3" Solute carriers 752 1993-04-01 2016-02-17 2021-04-13 1811 ENSG00000091138 OTTHUMG00000154812 uc003ver.3 L02785 NM_000111 CCDS5748 P40879 "8020951|11087667" MGI:107181 RGD:620623 LRG_683|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_683.xml 126650 SLC26A3 118817 objectId:1099 HGNC:3018 "ENST00000340010.10|NM_000111.3" HGNC:3018 +HGNC:8818 SLC26A4 solute carrier family 26 member 4 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 PDS pendrin DFNB4 "solute carrier family 26, member 4|solute carrier family 26 (anion exchanger), member 4" Solute carriers 752 1997-10-27 2016-02-17 2016-10-05 5172 ENSG00000091137 OTTHUMG00000154807 uc003vep.4 AF030880 NM_000441 CCDS5746 O43511 "9500541|11087667" MGI:1346029 RGD:3293 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=SLC26A4" 605646 SLC26A4 118821 objectId:1100 HGNC:8818 "ENST00000644269.2|NM_000441.2" HGNC:8818 +HGNC:22385 SLC26A4-AS1 SLC26A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.3 07q22.3 SLC26A4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-19 286002 ENSG00000233705 OTTHUMG00000154777 uc064gyw.1 BC037315 NR_028137 SLC26A4-AS1 HGNC:22385 +HGNC:9359 SLC26A5 solute carrier family 26 member 5 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 DFNB61 deafness, neurosensory, autosomal recessive, 61 PRES "prestin (motor protein)|solute carrier family 26 (anion exchanger), member 5" Solute carriers 752 2000-06-08 2005-09-13 2016-02-17 2016-10-05 375611 ENSG00000170615 OTTHUMG00000149911 uc003vbz.4 AC005064 NM_198999 "CCDS5732|CCDS55150|CCDS43630|CCDS43629|CCDS5733" P58743 10821263 MGI:1933154 RGD:69334 604943 SLC26A5 160337 objectId:1104 HGNC:9359 "ENST00000306312.8|NM_198999.3" HGNC:9359 +HGNC:55680 SLC26A5-AS1 SLC26A5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q22.1 07q22.1 Antisense RNAs 1987 2021-07-01 2021-07-01 101927870 ENSG00000234715 NR_110141 +HGNC:14472 SLC26A6 solute carrier family 26 member 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 DKFZp586E1422 "pendrin-like protein 1|pendrin L1|sulfate anion transporter|anion transporter 1" "solute carrier family 26, member 6|solute carrier family 26 (anion exchanger), member 6" "Solute carriers|MicroRNA protein coding host genes" "752|1691" 2001-01-25 2016-02-17 2016-02-17 65010 ENSG00000225697 OTTHUMG00000186381 uc003cuh.4 AF279265 NM_022911 "CCDS63627|CCDS46824|CCDS43087|CCDS46825|CCDS46826|CCDS63628" Q9BXS9 "11087667|11247665" MGI:2159728 RGD:1310197 610068 SLC26A6 objectId:1101 HGNC:14472 "ENST00000395550.7|NM_022911.3" +HGNC:14467 SLC26A7 solute carrier family 26 member 7 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 SUT2 Anion exchange transporter "solute carrier family 26, member 7|solute carrier family 26 (anion exchanger), member 7" Solute carriers 752 2001-01-25 2016-02-17 2016-12-13 115111 ENSG00000147606 OTTHUMG00000164062 uc003yex.5 AF331521 NM_001282356 "CCDS75765|CCDS6254|CCDS6255" Q8TE54 "11834742|11829495|16524946" MGI:2384791 RGD:1310846 608479 SLC26A7 objectId:1102 HGNC:14467 "ENST00000276609.8|NM_052832.4" HGNC:14467 +HGNC:14468 SLC26A8 solute carrier family 26 member 8 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "solute carrier family 26, member 8|solute carrier family 26 (anion exchanger), member 8" Solute carriers 752 2001-01-25 2016-02-17 2016-10-05 116369 ENSG00000112053 OTTHUMG00000014586 uc003oln.4 AF331522 NM_001193476 "CCDS4814|CCDS4813" Q96RN1 "11834742|11829495" MGI:2385046 RGD:1308898 608480 SLC26A8 408636 objectId:1105 HGNC:14468 "ENST00000490799.6|NM_052961.4" HGNC:14468 +HGNC:14469 SLC26A9 solute carrier family 26 member 9 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 anion transporter/exchanger-9 "solute carrier family 26, member 9|solute carrier family 26 (anion exchanger), member 9" Solute carriers 752 2001-01-25 2016-02-17 2016-02-17 115019 ENSG00000174502 OTTHUMG00000036001 uc001hdq.4 AF331525 NM_052934 "CCDS30990|CCDS30989" Q7LBE3 11834742 MGI:2444594 RGD:1310441 608481 SLC26A9 objectId:1103 HGNC:14469 "ENST00000367135.8|NM_052934.4" +HGNC:40686 SLC26A9-AS1 SLC26A9 and RAB7B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2018-09-26 2018-09-26 103021296 NR_110983 HGNC:40686 +HGNC:14470 SLC26A10 solute carrier family 26 member 10 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 solute carrier family 26, member 10 Solute carriers 752 2001-01-25 2015-12-08 2016-10-05 65012 ENSG00000135502 OTTHUMG00000128505 uc001spe.4 NR_166678 CCDS8949 Q8NG04 MGI:2143920 RGD:1564851 SLC26A10 objectId:1106 HGNC:14470 +HGNC:14471 SLC26A11 solute carrier family 26 member 11 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "solute carrier family 26, member 11|solute carrier family 26 (anion exchanger), member 11" Solute carriers 752 2001-01-25 2016-02-17 2016-10-05 284129 ENSG00000181045 OTTHUMG00000133419 uc002jyc.3 NM_001166347 CCDS11771 Q86WA9 MGI:2444589 RGD:1306178 610117 SLC26A11 objectId:1107 HGNC:14471 "ENST00000361193.8|NM_001166347.2" +HGNC:10995 SLC27A1 solute carrier family 27 member 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FATP1|FATP|MGC71751|FLJ00336|ACSVL5" solute carrier family 27 (fatty acid transporter), member 1 "Acyl-CoA synthetase family|Solute carriers" "40|752" 1999-08-20 2016-02-17 2016-02-17 376497 ENSG00000130304 OTTHUMG00000182878 uc002ngu.2 BC059399 NM_198580 CCDS32953 Q6PCB7 10873384 MGI:1347098 RGD:620927 600691 SLC27A1 objectId:1108 HGNC:10995 "ENST00000252595.12|NM_198580.3" +HGNC:10996 SLC27A2 solute carrier family 27 member 2 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "FATP2|hFACVL1|VLACS|VLCS|HsT17226|ACSVL1" FACVL1 solute carrier family 27 (fatty acid transporter), member 2 "Acyl-CoA synthetase family|Solute carriers" "40|752" 1999-08-20 2016-02-17 2016-02-17 11001 ENSG00000140284 OTTHUMG00000131643 uc001zxw.4 D88308 NM_003645 "CCDS10133|CCDS53943" O14975 9730624 MGI:1347099 RGD:71103 603247 SLC27A2 objectId:1109 HGNC:10996 "ENST00000267842.10|NM_003645.4" +HGNC:10997 SLC27A3 solute carrier family 27 member 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "FATP3|MGC4365|ACSVL3" solute carrier family 27 (fatty acid transporter), member 3 "Acyl-CoA synthetase family|Solute carriers" "40|752" 1999-08-20 2016-02-17 2016-10-05 11000 ENSG00000143554 OTTHUMG00000037155 uc001fcz.3 BC009916 NM_024330 CCDS1053 Q5K4L6 9671728 MGI:1347358 RGD:1310605 604193 SLC27A3 objectId:1110 HGNC:10997 "ENST00000624995.4|NM_024330.4" +HGNC:10998 SLC27A4 solute carrier family 27 member 4 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "FATP4|ACSVL4" solute carrier family 27 (fatty acid transporter), member 4 "Acyl-CoA synthetase family|Solute carriers" "40|752" 1999-08-20 2016-02-17 2016-10-05 10999 ENSG00000167114 OTTHUMG00000020746 uc004but.4 AF055899 NM_005094 CCDS6899 Q6P1M0 9878842 MGI:1347347 RGD:1307383 604194 SLC27A4 208329 objectId:1111 HGNC:10998 "ENST00000300456.5|NM_005094.4" HGNC:10998 +HGNC:10999 SLC27A5 solute carrier family 27 member 5 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "FATP5|VLACSR|VLCS-H2|VLCSH2|FACVL3|FLJ22987|ACSVL6|ACSB" fatty-acid-Coenzyme A ligase, very long-chain 3 solute carrier family 27 (fatty acid transporter), member 5 "Acyl-CoA synthetase family|Solute carriers" "40|752" 1999-08-20 2016-02-17 2016-02-17 10998 ENSG00000083807 OTTHUMG00000183543 uc002qtc.3 AF064255 NM_012254 "CCDS12983|CCDS82415" Q9Y2P5 "10479480|10749848" MGI:1347100 RGD:708535 603314 SLC27A5 471078 objectId:1112 HGNC:10999 "ENST00000263093.7|NM_012254.3" +HGNC:11000 SLC27A6 solute carrier family 27 member 6 protein-coding gene gene with protein product Approved 5q23.3 05q23.3 "FATP6|VLCS-H1|FACVL2|ACSVL2" fatty-acid-Coenzyme A ligase, very long-chain 2 solute carrier family 27 (fatty acid transporter), member 6 "Acyl-CoA synthetase family|Solute carriers" "40|752" 1999-08-20 2016-02-17 2016-02-17 28965 ENSG00000113396 OTTHUMG00000128991 uc003kuz.4 AF064254 NM_014031 CCDS4145 Q9Y2P4 "12556534|10479480" MGI:3036230 RGD:1311977 604196 SLC27A6 objectId:1113 HGNC:11000 "ENST00000262462.9|NM_001017372.3" +HGNC:11001 SLC28A1 solute carrier family 28 member 1 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 CNT1 "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1|solute carrier family 28 (concentrative nucleoside transporter), member 1" Solute carriers 752 1999-02-09 2016-02-17 2016-02-17 9154 ENSG00000156222 OTTHUMG00000148668 uc002blg.4 U62967 NM_001287761 "CCDS73777|CCDS10334|CCDS10335" O00337 9124315 MGI:3605073 RGD:621223 606207 SLC28A1 objectId:1114 HGNC:11001 "ENST00000394573.6|NM_004213.5" +HGNC:11002 SLC28A2 solute carrier family 28 member 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "CNT2|SPNT1|HCNT2|HsT17153" "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2|solute carrier family 28 (concentrative nucleoside transporter), member 2" Solute carriers 752 1999-02-09 2016-02-17 2016-10-05 9153 ENSG00000137860 OTTHUMG00000131426 uc001zva.3 U84392 NM_004212 CCDS10121 O43868 9435697 "MGI:1913105|MGI:3702173" RGD:61840 606208 SLC28A2 objectId:1115 HGNC:11002 "ENST00000347644.8|NM_004212.4" +HGNC:55417 SLC28A2-AS1 SLC28A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q21.1 15q21.1 Antisense RNAs 1987 2021-01-06 2021-01-06 101928414 ENSG00000259520 NR_120335 +HGNC:16484 SLC28A3 solute carrier family 28 member 3 protein-coding gene gene with protein product Approved 9q21.32-q21.33 09q21.32-q21.33 CNT3 "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3|solute carrier family 28 (concentrative nucleoside transporter), member 3" Solute carriers 752 2001-08-31 2016-02-17 2018-02-13 64078 ENSG00000197506 OTTHUMG00000020117 uc010mpz.4 AF305210 NM_022127 CCDS6670 Q9HAS3 11032837 MGI:2137361 RGD:621224 608269 SLC28A3 objectId:1116 HGNC:16484 "ENST00000376238.5|NM_001199633.2" +HGNC:11003 SLC29A1 solute carrier family 29 member 1 (Augustine blood group) protein-coding gene gene with protein product Approved 6p21.1 06p21.1 ENT1 solute carrier family 29 (equilibrative nucleoside transporter), member 1 "Blood group antigens|Solute carriers" "454|752" 1997-05-29 2016-03-17 2021-04-13 2030 ENSG00000112759 OTTHUMG00000014759 uc003owv.1 U81375 NM_001078175 CCDS4908 Q99808 "8986748|9344680|25896650" MGI:1927073 RGD:61899 LRG_1027|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1027.xml 602193 SLC29A1 objectId:1117 HGNC:11003 "ENST00000371755.9|NM_001372327.1" +HGNC:11004 SLC29A2 solute carrier family 29 member 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 DER12 "ENT2|HNP36" solute carrier family 29 (equilibrative nucleoside transporter), member 2 Solute carriers 752 1997-03-19 2016-03-17 2016-10-05 3177 ENSG00000174669 OTTHUMG00000169056 uc058dwm.1 X86681 NM_001532 "CCDS73326|CCDS8137" Q14542 "9192854|9478986" MGI:1345278 RGD:69296 602110 SLC29A2 objectId:1118 HGNC:11004 "ENST00000357440.7|NM_001532.3" +HGNC:23096 SLC29A3 solute carrier family 29 member 3 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "ENT3|FLJ11160" "solute carrier family 29 (nucleoside transporters), member 3|solute carrier family 29 (equilibrative nucleoside transporter), member 3" Solute carriers 752 2003-10-08 2016-02-17 2021-04-13 55315 ENSG00000198246 OTTHUMG00000018424 uc001jrr.5 AF326987 NM_018344 "CCDS86099|CCDS7310" Q9BZD2 11396612 MGI:1918529 RGD:727811 "LOVD - Leiden Open Variation Database|https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=SLC29A3|LRG_1318|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1318.xml" 612373 SLC29A3 173057 objectId:1119 HGNC:23096 "ENST00000373189.6|NM_018344.6" HGNC:23096 +HGNC:23097 SLC29A4 solute carrier family 29 member 4 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "FLJ34923|ENT4" "solute carrier family 29 (nucleoside transporters), member 4|solute carrier family 29 (equilibrative nucleoside transporter), member 4" Solute carriers 752 2003-10-08 2016-02-17 2016-10-05 222962 ENSG00000164638 OTTHUMG00000023797 uc003sod.4 AK075422 NM_153247 "CCDS5340|CCDS75561" Q7RTT9 12838422 MGI:2385330 RGD:1310545 609149 SLC29A4 objectId:1120 HGNC:23097 "ENST00000396872.8|NM_153247.4" +HGNC:43783 SLC29A4P1 solute carrier family 29 member 4 pseudogene 1 pseudogene pseudogene Approved 7p11.2 07p11.2 solute carrier family 29 (nucleoside transporters), member 4 pseudogene 1 2012-03-02 2016-02-17 2016-02-17 402509 ENSG00000214668 OTTHUMG00000156099 NG_022537 SLC29A4P1 PGOHUM00000232753 HGNC:43783 +HGNC:43782 SLC29A4P2 solute carrier family 29 member 4 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 solute carrier family 29 (nucleoside transporters), member 4 pseudogene 2 2012-03-02 2016-02-17 2016-02-17 100132308 ENSG00000214660 OTTHUMG00000156502 NG_022561 SLC29A4P2 PGOHUM00000233324 HGNC:43782 +HGNC:11012 SLC30A1 solute carrier family 30 member 1 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 ZRC1 ZNT1 solute carrier family 30 (zinc transporter), member 1 Solute carriers 752 1997-12-12 2016-02-17 2016-02-17 7779 ENSG00000170385 OTTHUMG00000036995 uc001hio.2 AF323590 NM_021194 CCDS1499 Q9Y6M5 MGI:1345281 RGD:61918 609521 SLC30A1 objectId:1121 HGNC:11012 "ENST00000367001.5|NM_021194.3" +HGNC:11013 SLC30A2 solute carrier family 30 member 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 ZNT2 solute carrier family 30 (zinc transporter), member 2 Solute carriers 752 1997-12-12 2016-02-17 2016-10-05 7780 ENSG00000158014 OTTHUMG00000007508 uc001blg.2 AK023491 NM_032513 "CCDS272|CCDS30644" Q9BRI3 MGI:106637 RGD:3707 609617 SLC30A2 471082 objectId:1122 HGNC:11013 "ENST00000374276.4|NM_001004434.3" +HGNC:11014 SLC30A3 solute carrier family 30 member 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 ZNT3 solute carrier family 30 (zinc transporter), member 3 Solute carriers 752 1997-12-12 2016-02-17 2016-02-17 7781 ENSG00000115194 OTTHUMG00000128409 uc002rjk.4 U76010 NM_001318949 CCDS1743 Q99726 8962159 MGI:1345280 RGD:1359689 602878 SLC30A3 objectId:1123 HGNC:11014 "ENST00000233535.9|NM_003459.5" +HGNC:11015 SLC30A4 solute carrier family 30 member 4 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 ZNT4 solute carrier family 30 (zinc transporter), member 4 Solute carriers 752 1997-12-12 2016-02-17 2016-02-17 7782 ENSG00000104154 OTTHUMG00000131439 uc001zvj.5 NM_001321036 CCDS10125 O14863 MGI:1345282 RGD:619750 602095 SLC30A4 objectId:1124 HGNC:11015 "ENST00000261867.5|NM_013309.6" +HGNC:19089 SLC30A5 solute carrier family 30 member 5 protein-coding gene gene with protein product Approved 5q13.1-q13.2 05q13.1-q13.2 "ZTL1|ZnT-5|FLJ12496|FLJ12756|ZNT5|MGC5499|ZNTL1" solute carrier family 30 (zinc transporter), member 5 Solute carriers 752 2003-02-12 2016-02-17 2018-02-13 64924 ENSG00000145740 OTTHUMG00000131253 uc003jvh.4 AF212235 NM_001251969 "CCDS58955|CCDS34173|CCDS3996" Q8TAD4 "11937503|11904301" MGI:1916298 RGD:1306931 607819 SLC30A5 objectId:1125 HGNC:19089 "ENST00000396591.8|NM_022902.5" +HGNC:19305 SLC30A6 solute carrier family 30 member 6 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "FLJ31101|ZNT6" solute carrier family 30 (zinc transporter), member 6 Solute carriers 752 2003-02-12 2016-02-17 2016-02-17 55676 ENSG00000152683 OTTHUMG00000128456 uc002roe.3 AK055663 NM_001193513 "CCDS54341|CCDS54343|CCDS1780|CCDS82434|CCDS54342" Q6NXT4 MGI:2386741 RGD:1309250 611148 SLC30A6 objectId:1126 HGNC:19305 "ENST00000282587.9|NM_017964.5" +HGNC:55203 SLC30A6-DT SLC30A6 divergent transcript non-coding RNA RNA, long non-coding Approved 2p22.3 02p22.3 Divergent transcripts 1990 2020-08-21 2020-08-21 118568811 ENSG00000272716 +HGNC:54646 SLC30A6P1 SLC30A6 pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 2019-11-06 2019-11-06 2019-11-06 100422091 ENSG00000232277 NG_023601 +HGNC:19306 SLC30A7 solute carrier family 30 member 7 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "ZnTL2|ZNT7" solute carrier family 30 (zinc transporter), member 7 Solute carriers 752 2003-03-14 2016-02-17 2016-10-05 148867 ENSG00000162695 OTTHUMG00000011815 uc001dtn.3 AF233345 NM_133496 CCDS776 Q8NEW0 12446736 MGI:1913750 RGD:1307873 611149 SLC30A7 objectId:1127 HGNC:19306 "ENST00000357650.9|NM_133496.5" +HGNC:20303 SLC30A8 solute carrier family 30 member 8 protein-coding gene gene with protein product Approved 8q24.11 08q24.11 "ZnT-8|ZNT8" Zinc transporter 8 solute carrier family 30 (zinc transporter), member 8 Solute carriers 752 2003-03-14 2016-02-17 2016-12-13 169026 ENSG00000164756 OTTHUMG00000164962 uc064psc.1 NM_173851 "CCDS55272|CCDS6322" Q8IWU4 MGI:2442682 RGD:1308282 611145 SLC30A8 objectId:1128 HGNC:20303 "ENST00000456015.7|NM_173851.3" +HGNC:1329 SLC30A9 solute carrier family 30 member 9 protein-coding gene gene with protein product Approved 4p13 04p13 "HUEL|ZNT9|GAC63" GRIP1-dependent nuclear receptor coactivator C4orf1 "chromosome 4 open reading frame 1|solute carrier family 30 (zinc transporter), member 9" Solute carriers 752 1998-12-03 2003-09-10 2016-02-17 2020-09-17 10463 ENSG00000014824 OTTHUMG00000099387 uc003gwl.4 AF006621 NM_006345 CCDS3465 Q6PML9 "10409434|11906820" MGI:1923690 RGD:1593180 604604 SLC30A9 objectId:1129 HGNC:1329 "ENST00000264451.12|NM_006345.4" HGNC:1329 +HGNC:25355 SLC30A10 solute carrier family 30 member 10 protein-coding gene gene with protein product Approved 1q41 01q41 "DKFZp547M236|ZnT-10|ZRC1|ZNT8" zinc transporter 8 solute carrier family 30, member 10 Solute carriers 752 2005-09-06 2015-12-08 2015-12-08 55532 ENSG00000196660 OTTHUMG00000037434 uc001hlw.4 AY212919 NM_018713 CCDS31026 Q6XR72 15154973 MGI:2685058 RGD:1305098 611146 SLC30A10 311032 objectId:1130 HGNC:25355 "ENST00000366926.4|NM_018713.3" HGNC:25355 +HGNC:11016 SLC31A1 solute carrier family 31 member 1 protein-coding gene gene with protein product Approved 9q32 09q32 "hCTR1|CTR1" COPT1 solute carrier family 31 (copper transporter), member 1 Solute carriers 752 1997-10-16 2016-02-17 2016-02-17 1317 ENSG00000136868 OTTHUMG00000020519 uc004bgu.4 U83460 NM_001859 CCDS6789 O15431 9207117 MGI:1333843 RGD:620059 603085 SLC31A1 objectId:1131 HGNC:11016 "ENST00000374212.5|NM_001859.4" +HGNC:17124 SLC31A1P1 solute carrier family 31 member 1 pseudogene 1 pseudogene pseudogene Approved 3q26.31 03q26.31 CTR1psi SLC31A1P "solute carrier family 31 (copper transporters), member 1 pseudogene|solute carrier family 31 (copper transporter), member 1 pseudogene 1" 2001-11-02 2010-02-24 2016-02-17 2016-02-17 117151 ENSG00000224426 OTTHUMG00000156918 AF238997 NG_009573 11054564 SLC31A1P1 PGOHUM00000237863 HGNC:17124 +HGNC:11017 SLC31A2 solute carrier family 31 member 2 protein-coding gene gene with protein product Approved 9q32 09q32 "hCTR2|CTR2" copper transporter 2 COPT2 solute carrier family 31 (copper transporter), member 2 Solute carriers 752 1997-10-16 2016-02-17 2016-02-17 1318 ENSG00000136867 OTTHUMG00000021037 uc004bgq.4 NM_001860 CCDS6788 O15432 9207117 MGI:1333844 RGD:1307963 603088 SLC31A2 objectId:1132 HGNC:11017 "ENST00000259392.8|NM_001860.3" +HGNC:11018 SLC32A1 solute carrier family 32 member 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "VGAT|bA122O1.1" VIAAT "vesicular inhibitory amino acid transporter|solute carrier family 32 (GABA vesicular transporter), member 1" Solute carriers 752 1999-08-20 2016-02-17 2016-10-05 140679 ENSG00000101438 OTTHUMG00000032457 uc002xjc.3 AL133519 NM_080552 CCDS13307 Q9H598 19843525 MGI:1194488 RGD:621402 616440 SLC32A1 objectId:1133 HGNC:11018 "ENST00000217420.2|NM_080552.3" +HGNC:95 SLC33A1 solute carrier family 33 member 1 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "AT-1|AT1" "ACATN|SPG42" "acetyl-Coenzyme A transporter|spastic paraplegia 42 (autosomal dominant)|solute carrier family 33 (acetyl-CoA transporter), member 1" Solute carriers 752 1999-02-12 2002-12-06 2016-02-17 2020-09-17 9197 ENSG00000169359 OTTHUMG00000158481 uc003fao.4 D88152 NM_004733 "CCDS87159|CCDS3173" O00400 "9096318|19061983" MGI:1332247 RGD:620653 603690 SLC33A1 180215 objectId:1134 HGNC:95 "ENST00000643144.2|NM_004733.4" HGNC:95 +HGNC:11019 SLC34A1 solute carrier family 34 member 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "NAPI-3|NPTIIa|SLC11" "sodium/phosphate co-transporter|solute carrier family 17 (sodium phosphate), member 2|Na+-phosphate cotransporter type II" "NPT2|SLC17A2" "solute carrier family 34 (sodium phosphate), member 1|solute carrier family 34 (type II sodium/phosphate cotransporter), member 1" Solute carriers 752 1994-05-25 2016-02-17 2016-02-17 6569 ENSG00000131183 OTTHUMG00000130857 uc003mgk.5 L13258 NM_003052 "CCDS54953|CCDS4418" Q06495 "8327470|8693007" MGI:1345284 RGD:3708 182309 SLC34A1 227390 objectId:1135 HGNC:11019 "ENST00000324417.6|NM_003052.5" HGNC:11019 +HGNC:11020 SLC34A2 solute carrier family 34 member 2 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 NAPI-3B "solute carrier family 34 (sodium phosphate), member 2|solute carrier family 34 (type II sodium/phosphate cotransporter), member 2" Solute carriers 752 1999-07-19 2016-02-17 2016-02-17 10568 ENSG00000157765 OTTHUMG00000097757 uc003grr.4 AF111856 NM_006424 "CCDS54750|CCDS3435" O95436 "10329428|10610722" MGI:1342284 RGD:620889 SLC34A2 604217 SLC34A2 118831 objectId:1136 HGNC:11020 "ENST00000382051.8|NM_006424.3" HGNC:11020 +HGNC:20305 SLC34A3 solute carrier family 34 member 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NPTIIc|FLJ38680" "solute carrier family 34 (sodium phosphate), member 3|solute carrier family 34 (type II sodium/phosphate cotransporter), member 3" Solute carriers 752 2003-08-08 2016-02-17 2016-02-17 142680 ENSG00000198569 OTTHUMG00000131780 uc011met.2 AB055000 NM_080877 CCDS7038 Q8N130 "11880379|16358215|16358214" MGI:2159410 RGD:708551 609826 SLC34A3 118834 objectId:1137 HGNC:20305 "ENST00000673835.1|NM_001177316.2" HGNC:20305 +HGNC:11021 SLC35A1 solute carrier family 35 member A1 protein-coding gene gene with protein product Approved 6q15 06q15 "CMPST|hCST" "solute carrier family 35 (UDP-galactose transporter), member 1|solute carrier family 35 (CMP-sialic acid transporter), member A1" Solute carriers 752 1999-10-05 2016-02-17 2016-02-17 10559 ENSG00000164414 OTTHUMG00000015177 uc011dzj.3 D87969 NM_001168398 "CCDS55043|CCDS5010" P78382 "9010752|9644260" MGI:1345622 RGD:1311359 605634 SLC35A1 139197 objectId:1138 HGNC:11021 "ENST00000369552.9|NM_006416.5" HGNC:11021 +HGNC:11022 SLC35A2 solute carrier family 35 member A2 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "UGAT|UGT|UGT1|UGT2|UGTL" UGALT "solute carrier family 35 (UDP-galactose transporter), member 2|solute carrier family 35 (UDP-galactose transporter), member A2" Solute carriers 752 1995-02-24 2016-02-17 2016-02-17 7355 ENSG00000102100 OTTHUMG00000024129 uc004dlo.4 D88146 NM_005660 "CCDS14311|CCDS43937|CCDS65254|CCDS75973|CCDS75974|CCDS75975|CCDS35247|CCDS65253" P78381 8128316 MGI:1345297 RGD:2293497 314375 SLC35A2 358431 objectId:1139 HGNC:11022 "ENST00000247138.11|NM_005660.3" HGNC:11022 +HGNC:11023 SLC35A3 solute carrier family 35 member A3 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3|solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3" Solute carriers 752 1999-10-05 2016-02-17 2016-10-05 23443 ENSG00000117620 OTTHUMG00000010805 uc001dsp.3 AB021981 NM_012243 "CCDS60204|CCDS762|CCDS60205" Q9Y2D2 10393322 MGI:1917648 RGD:1308615 605632 SLC35A3 371162 objectId:1140 HGNC:11023 "ENST00000533028.8|NM_012243.3" HGNC:11023 +HGNC:20753 SLC35A4 solute carrier family 35 member A4 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 solute carrier family 35, member A4 Solute carriers 752 2003-03-31 2015-12-04 2015-12-04 113829 ENSG00000176087 OTTHUMG00000129495 uc063hwh.1 AJ420598 NM_080670 CCDS4231 "L0R6Q1|Q96G79" MGI:1915093 RGD:628792 SLC35A4 objectId:1141 HGNC:20753 "ENST00000323146.8|NM_080670.4" +HGNC:20792 SLC35A5 solute carrier family 35 member A5 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 FLJ20730 solute carrier family 35, member A5 Solute carriers 752 2003-04-04 2015-12-04 2016-10-05 55032 ENSG00000138459 OTTHUMG00000159263 uc003dze.5 AK000737 NM_017945 "CCDS2967|CCDS87121" Q9BS91 MGI:1921352 RGD:1564361 SLC35A5 objectId:1142 HGNC:20792 "ENST00000492406.6|NM_017945.5" +HGNC:20798 SLC35B1 solute carrier family 35 member B1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "UGTREL1|AXER" ATP/ADP exchanger in the ER membrane solute carrier family 35, member B1 Solute carriers 752 2003-04-07 2015-12-04 2020-10-30 10237 ENSG00000121073 OTTHUMG00000161638 uc002iph.3 D16978 NM_005827 CCDS11552 P78383 "9010752|30154480" MGI:1343133 RGD:727783 610790 SLC35B1 objectId:1143 HGNC:20798 "ENST00000240333.12|NM_005827.4" +HGNC:16872 SLC35B2 solute carrier family 35 member B2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 UGTrel4 "solute carrier family 35, member B2|solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2" "Solute carriers|MicroRNA protein coding host genes" "752|1691" 2003-04-10 2016-02-17 2016-02-17 347734 ENSG00000157593 OTTHUMG00000014760 uc011dvu.4 AK075456 NM_001286509 "CCDS75463|CCDS69127|CCDS34462|CCDS75462" Q8TB61 MGI:1921086 RGD:1565318 610788 SLC35B2 objectId:1144 HGNC:16872 "ENST00000393812.4|NM_178148.4" +HGNC:21601 SLC35B3 solute carrier family 35 member B3 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "CGI-19|dJ453H5.1|PAPST2" 3' phosphoadenosine 5' phosphosulfate transporter 2 C6orf196 "chromosome 6 open reading frame 196|solute carrier family 35, member B3|solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3" Solute carriers 752 2003-06-25 2003-09-10 2016-02-17 2016-02-17 51000 ENSG00000124786 OTTHUMG00000014224 uc003myb.5 AF132953 NM_015948 CCDS4508 Q9H1N7 10810093 MGI:1913978 RGD:1307183 610845 SLC35B3 objectId:1145 HGNC:21601 "ENST00000644923.2|NM_001370476.2" +HGNC:20584 SLC35B4 solute carrier family 35 member B4 protein-coding gene gene with protein product Approved 7q33 07q33 "FLJ14697|YEA4" "solute carrier family 35, member B4|solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4" Solute carriers 752 2003-09-09 2016-02-17 2016-02-17 84912 ENSG00000205060 OTTHUMG00000155321 uc003vrn.4 AB052892 NM_032826 CCDS34756 Q969S0 MGI:1931249 RGD:1308985 610923 SLC35B4 objectId:1146 HGNC:20584 "ENST00000378509.9|NM_032826.5" +HGNC:20197 SLC35C1 solute carrier family 35 member C1 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "FUCT1|FLJ11320" "solute carrier family 35, member C1|solute carrier family 35 (GDP-fucose transporter), member C1" Solute carriers 752 2003-10-08 2016-02-17 2021-04-13 55343 ENSG00000181830 OTTHUMG00000166519 uc001nbp.4 NM_018389 "CCDS7914|CCDS44575" Q96A29 "11326279|11326280" MGI:2443301 RGD:1309463 "Congenital Disorder of Glycosylation pages|http://www.euroglycanet.org/|SLC35C1base: Mutation registry for Leucocyte adhesion deficiency I I (LAD-II) (previously known as FUCT1base)|http://structure.bmc.lu.se/idbase/SLC35C1base/|LRG_107|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_107.xml" 605881 SLC35C1 118838 objectId:1147 HGNC:20197 "ENST00000314134.4|NM_018389.5" HGNC:20197 +HGNC:17117 SLC35C2 solute carrier family 35 member C2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CGI-15|bA394O2.1" "C20orf5|OVCOV1" "ovarian cancer overexpressed 1|solute carrier family 35, member C2|solute carrier family 35 (GDP-fucose transporter), member C2" Solute carriers 752 2001-11-23 2003-10-10 2016-02-17 2016-02-17 51006 ENSG00000080189 OTTHUMG00000033050 uc002xrr.5 NM_015945 "CCDS13397|CCDS63292|CCDS13396" Q9NQQ7 "10810093|11549316" MGI:2385166 RGD:1311250 619530 SLC35C2 objectId:1148 HGNC:17117 "ENST00000372230.10|NM_015945.12" +HGNC:54894 SLC35C2P1 SLC35C2 pseudogene 1 pseudogene pseudogene Approved Xp22.2 Xp22.2 2020-04-17 2020-04-17 100129483 ENSG00000223498 NG_022585 +HGNC:20800 SLC35D1 solute carrier family 35 member D1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "UGTREL7|KIAA0260" "solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1|solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1" Solute carriers 752 2003-04-09 2016-02-17 2016-02-17 23169 ENSG00000116704 OTTHUMG00000009360 uc001ddk.3 AB044343 NM_015139 CCDS636 Q9NTN3 11322953 MGI:2140361 RGD:1309843 610804 SLC35D1 168079 objectId:1149 HGNC:20800 "ENST00000235345.6|NM_015139.3" HGNC:20800 +HGNC:20799 SLC35D2 solute carrier family 35 member D2 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 "UGTrel8|SQV7L" "solute carrier family 35, member D2|solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2" Solute carriers 752 2003-10-07 2016-02-17 2016-10-05 11046 ENSG00000130958 OTTHUMG00000020293 uc004awc.4 AB122077 NM_001286990 "CCDS6717|CCDS69625" Q76EJ3 15607426 MGI:1917734 RGD:1309518 609182 SLC35D2 objectId:1150 HGNC:20799 "ENST00000253270.13|NM_007001.3" +HGNC:15621 SLC35D3 solute carrier family 35 member D3 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 FRCL1 solute carrier family 35, member D3 Solute carriers 752 2003-10-07 2015-12-04 2018-11-19 340146 ENSG00000182747 OTTHUMG00000015651 uc003qhe.4 NM_001008783 CCDS34544 Q5M8T2 MGI:1923407 RGD:1309428 612519 SLC35D3 objectId:1151 HGNC:15621 "ENST00000331858.5|NM_001008783.3" +HGNC:20803 SLC35E1 solute carrier family 35 member E1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 FLJ14251 solute carrier family 35, member E1 Solute carriers 752 2003-04-09 2015-12-04 2015-12-04 79939 ENSG00000127526 OTTHUMG00000152575 uc010xph.3 AK024313 NM_024881 CCDS12346 Q96K37 MGI:2142403 RGD:1561342 SLC35E1 objectId:1152 HGNC:20803 "ENST00000595753.6|NM_024881.5" +HGNC:42046 SLC35E1P1 solute carrier family 35 member E1 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 solute carrier family 35, member E1 pseudogene 1 2011-06-01 2015-12-04 2015-12-04 727991 ENSG00000238286 OTTHUMG00000016518 NG_007300 SLC35E1P1 PGOHUM00000248512 HGNC:42046 +HGNC:20863 SLC35E2A solute carrier family 35 member E2A protein-coding gene gene with protein product Approved 1p36.33 01p36.33 KIAA0447 SLC35E2 "solute carrier family 35, member E2|solute carrier family 35 member E2" Solute carriers 752 2003-04-14 2018-03-01 2018-03-01 2020-05-15 9906 ENSG00000215790 OTTHUMG00000000823 uc001aia.3 AB007916 NM_182838 "CCDS55560|CCDS33" P0CK97 MGI:2444240 SLC35E2 objectId:1153 HGNC:20863 +HGNC:33941 SLC35E2B solute carrier family 35 member E2B protein-coding gene gene with protein product Approved 1p36.33 01p36.33 solute carrier family 35, member E2B Solute carriers 752 2010-07-19 2015-12-04 2020-05-15 728661 ENSG00000189339 OTTHUMG00000078639 uc057bht.1 NM_001110781 CCDS44041 P0CK96 MGI:2444240 RGD:1309076 619315 SLC35E2B objectId:2563 HGNC:33941 "ENST00000617444.5|NM_001290264.2" +HGNC:20864 SLC35E3 solute carrier family 35 member E3 protein-coding gene gene with protein product Approved 12q15 12q15 BLOV1 solute carrier family 35, member E3 Solute carriers 752 2003-04-14 2015-12-04 2015-12-04 55508 ENSG00000175782 OTTHUMG00000169282 uc001suh.4 "AF148713|AY358943" NM_018656 CCDS41808 Q7Z769 12975309 MGI:2448489 RGD:1564876 SLC35E3 objectId:1154 HGNC:20864 "ENST00000398004.4|NM_018656.5" +HGNC:17058 SLC35E4 solute carrier family 35 member E4 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 solute carrier family 35, member E4 Solute carriers 752 2003-11-25 2015-12-04 2018-11-19 339665 ENSG00000100036 OTTHUMG00000151110 uc003ais.2 NM_001001479 "CCDS13882|CCDS82708" Q6ICL7 MGI:2144150 RGD:708484 SLC35E4 objectId:1155 HGNC:17058 "ENST00000343605.5|NM_001001479.4" +HGNC:21483 SLC35F1 solute carrier family 35 member F1 protein-coding gene gene with protein product Approved 6q22.2-q22.31 06q22.2-q22.31 dJ230I3.1 C6orf169 "chromosome 6 open reading frame 169|solute carrier family 35, member F1" Solute carriers 752 2003-11-26 2015-12-04 2018-11-19 222553 ENSG00000196376 OTTHUMG00000015460 uc003pxx.4 BC028615 NM_001029858 CCDS34524 Q5T1Q4 MGI:2139810 RGD:1559576 SLC35F1 objectId:1156 HGNC:21483 "ENST00000360388.9|NM_001029858.4" +HGNC:23615 SLC35F2 solute carrier family 35 member F2 protein-coding gene gene with protein product Approved 11q22.3 11q22.3 FLJ13018 solute carrier family 35, member F2 Solute carriers 752 2003-11-25 2015-12-04 2015-12-04 54733 ENSG00000110660 OTTHUMG00000166366 uc001pjq.3 NM_017515 CCDS41709 Q8IXU6 9119394 MGI:1919272 RGD:1311242 SLC35F2 objectId:1157 HGNC:23615 "ENST00000525815.6|NM_017515.5" +HGNC:23616 SLC35F3 solute carrier family 35 member F3 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 FLJ37712 solute carrier family 35, member F3 "Solute carriers|MicroRNA protein coding host genes" "752|1691" 2003-11-25 2015-12-04 2016-10-05 148641 ENSG00000183780 OTTHUMG00000037929 uc001hvy.1 NM_173508 "CCDS1600|CCDS73050" Q8IY50 MGI:2444426 RGD:1589548 SLC35F3 objectId:1158 HGNC:23616 "ENST00000366618.8|NM_173508.4" +HGNC:41027 SLC35F3-AS1 SLC35F3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Antisense RNAs 1987 2020-03-26 2020-03-26 102724100 ENSG00000236244 OTTHUMG00000040085 XR_949285 +HGNC:19845 SLC35F4 solute carrier family 35 member F4 protein-coding gene gene with protein product Approved 14q22.3-q23.1 14q22.3-q23.1 FLJ37712 C14orf36 "chromosome 14 open reading frame 36|solute carrier family 35, member F4" Solute carriers 752 2002-11-27 2003-11-28 2015-12-04 2020-04-20 341880 ENSG00000151812 OTTHUMG00000171317 uc059bxf.1 NM_001306087 "CCDS76684|CCDS86392" A4IF30 MGI:1922538 RGD:1561109 SLC35F4 objectId:1159 HGNC:19845 "ENST00000556826.6|NM_001306087.2" +HGNC:23617 SLC35F5 solute carrier family 35 member F5 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 FLJ22004 solute carrier family 35, member F5 "Solute carriers|MicroRNA protein coding host genes" "752|1691" 2003-11-25 2015-12-04 2015-12-04 80255 ENSG00000115084 OTTHUMG00000131361 uc002tku.2 AF529364 NM_025181 "CCDS2119|CCDS86878|CCDS82503" Q8WV83 MGI:1921400 RGD:1308125 SLC35F5 objectId:1160 HGNC:23617 "ENST00000245680.7|NM_025181.5" HGNC:23617 +HGNC:26055 SLC35F6 solute carrier family 35 member F6 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ20555|ANT2BP|TANGO9" "ANT2-binding protein|transport and golgi organization 9 homolog (Drosophila)" C2orf18 "chromosome 2 open reading frame 18|solute carrier family 35, member F6" Solute carriers 752 2004-01-14 2012-12-07 2015-12-04 2016-10-05 54978 ENSG00000213699 OTTHUMG00000128407 uc002rhp.2 AK075164 NM_017877 CCDS1728 Q8N357 "15911612|19154410" MGI:1922169 RGD:1309228 619667 objectId:2564 HGNC:26055 "ENST00000344420.10|NM_017877.4" +HGNC:26607 SLC35G1 solute carrier family 35 member G1 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 "FLJ33990|C10orf60" TMEM20 "transmembrane protein 20|solute carrier family 35, member G1" Solute carriers 752 2004-03-04 2011-08-03 2015-12-04 2015-12-04 159371 ENSG00000176273 OTTHUMG00000018779 uc001kjf.3 AK091309 NM_153226 "CCDS44459|CCDS7432" Q2M3R5 21569384 MGI:2444789 RGD:1595908 617167 SLC35G1 objectId:2565 HGNC:26607 "ENST00000427197.2|NM_001134658.3" +HGNC:28480 SLC35G2 solute carrier family 35 member G2 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "MGC3295|DKFZp564K2464" TMEM22 "transmembrane protein 22|solute carrier family 35, member G2" Solute carriers 752 2004-03-04 2012-03-09 2015-12-04 2015-12-04 80723 ENSG00000168917 OTTHUMG00000159787 uc003erg.4 BC022557 NM_025246 CCDS3091 Q8TBE7 11230166 MGI:2685365 RGD:1306109 617812 SLC35G2 objectId:2566 HGNC:28480 "ENST00000446465.3|NM_025246.3" HGNC:28480 +HGNC:26848 SLC35G3 solute carrier family 35 member G3 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ40154 "TMEM21A|AMAC1" "transmembrane protein 21A|acyl-malonyl condensing enzyme 1|solute carrier family 35, member G3" Solute carriers 752 2004-03-04 2011-08-03 2015-12-04 2016-10-05 146861 ENSG00000164729 OTTHUMG00000132929 uc002hjd.3 AK097473 NM_152462 CCDS11293 Q8N808 MGI:1927128 SLC35G3 objectId:2567 HGNC:26848 "ENST00000297307.7|NM_152462.2" +HGNC:31043 SLC35G4 solute carrier family 35 member G4 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "AMAC1L1|SLC35G4P" "acyl-malonyl condensing enzyme 1-like 1|solute carrier family 35, member G4, pseudogene|solute carrier family 35, member G4" Solute carriers 752 2004-11-12 2014-10-01 2015-12-04 2018-11-19 646000 ENSG00000236396 OTTHUMG00000180598 NM_001282300 CCDS82241 P0C7Q5 17101974 MGI:1927128 SLC35G4 PGOHUM00000263439 objectId:2568 HGNC:31043 "ENST00000588001.2|NM_001282300.2" +HGNC:15546 SLC35G5 solute carrier family 35 member G5 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "AMAC|AMAC1L2" "acyl-malonyl condensing enzyme 1-like 2|solute carrier family 35, member G5" Solute carriers 752 2001-04-25 2011-08-03 2015-12-04 2015-12-04 83650 ENSG00000177710 OTTHUMG00000090653 uc003wtp.2 AJ291677 NM_054028 CCDS5980 Q96KT7 MGI:1927128 615199 SLC35G5 objectId:2569 HGNC:15546 "ENST00000382435.5|NM_054028.2" +HGNC:31351 SLC35G6 solute carrier family 35 member G6 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "TMEM21B|AMAC1L3" "transmembrane protein 21B|acyl-malonyl condensing enzyme 1-like 3|solute carrier family 35, member G6" Solute carriers 752 2004-03-04 2011-08-03 2015-12-04 2020-04-01 643664 ENSG00000259224 OTTHUMG00000187017 uc010cmj.2 NM_001102614 CCDS45603 P0C7Q6 MGI:1927128 RGD:1308025 SLC35G6 objectId:2570 HGNC:31351 "ENST00000412468.4|NM_001102614.2" +HGNC:18761 SLC36A1 solute carrier family 36 member 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "LYAAT-1|PAT1|TRAMD3" solute carrier family 36 (proton/amino acid symporter), member 1 Solute carriers 752 2002-10-11 2016-02-17 2016-02-17 206358 ENSG00000123643 OTTHUMG00000130125 uc063ivf.1 AK057340 NM_078483 "CCDS4316|CCDS78073|CCDS83035" Q7Z2H8 "11959859|11390972" MGI:2445299 RGD:619801 606561 SLC36A1 objectId:1161 HGNC:18761 "ENST00000243389.8|NM_078483.4" +HGNC:18762 SLC36A2 solute carrier family 36 member 2 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "PAT2|tramdorin|TRAMD1" solute carrier family 36 (proton/amino acid symporter), member 2 Solute carriers 752 2003-01-13 2016-02-17 2016-02-17 153201 ENSG00000186335 OTTHUMG00000130129 uc003lty.3 AY162214 NM_181776 CCDS4315 Q495M3 11959859 MGI:1891430 RGD:620492 608331 SLC36A2 173500 objectId:1162 HGNC:18762 "ENST00000335244.9|NM_181776.3" HGNC:18762 +HGNC:19659 SLC36A3 solute carrier family 36 member 3 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "PAT3|TRAMD2|tramdorin2" solute carrier family 36, member 3 Solute carriers 752 2003-08-01 2015-12-08 2015-12-08 285641 ENSG00000186334 OTTHUMG00000130128 uc003ltw.3 AY162215 NM_181774 "CCDS47316|CCDS4314" Q495N2 12809675 MGI:2665001 RGD:1309092 608332 SLC36A3 objectId:1163 HGNC:19659 "ENST00000335230.8|NM_181774.4" +HGNC:19660 SLC36A4 solute carrier family 36 member 4 protein-coding gene gene with protein product Approved 11q21 11q21 "PAT4|FLJ38932" solute carrier family 36 (proton/amino acid symporter), member 4 Solute carriers 752 2003-08-08 2016-02-17 2016-02-17 120103 ENSG00000180773 OTTHUMG00000167368 uc001pdn.5 AY162216 NM_001286139 "CCDS8291|CCDS66202" Q6YBV0 MGI:2442595 RGD:1311528 613760 SLC36A4 objectId:1164 HGNC:19660 "ENST00000326402.9|NM_152313.4" +HGNC:11024 SLC37A1 solute carrier family 37 member 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "solute carrier family 37 (glycerol-3-phosphate transporter), member 1|solute carrier family 37 (glucose-6-phosphate transporter), member 1" Solute carriers 752 2000-05-23 2016-02-17 2016-02-17 54020 ENSG00000160190 OTTHUMG00000086803 uc002zbi.3 AJ269529 NM_001320537 CCDS13689 P57057 11112347 MGI:2446181 RGD:1308587 608094 SLC37A1 objectId:1165 HGNC:11024 "ENST00000352133.3|NM_001320537.2" +HGNC:20644 SLC37A2 solute carrier family 37 member 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 FLJ00171 "solute carrier family 37 (glycerol-3-phosphate transporter), member 2|solute carrier family 37 (glucose-6-phosphate transporter), member 2" Solute carriers 752 2003-03-14 2016-02-17 2018-11-19 219855 ENSG00000134955 OTTHUMG00000165879 uc010sau.3 AK074100 NM_198277 "CCDS31714|CCDS44757" Q8TED4 MGI:1929693 RGD:1564160 619136 SLC37A2 objectId:1166 HGNC:20644 "ENST00000403796.7|NM_001145290.2" +HGNC:20651 SLC37A3 solute carrier family 37 member 3 protein-coding gene gene with protein product Approved 7q34 07q34 DKFZp761N0624 solute carrier family 37, member 3 Solute carriers 752 2003-03-14 2015-12-08 2015-12-08 84255 ENSG00000157800 OTTHUMG00000157343 uc003vvo.5 AK074823 NM_032295 "CCDS5858|CCDS5859|CCDS75669" Q8NCC5 MGI:1919394 RGD:1310346 619137 SLC37A3 objectId:1167 HGNC:20651 "ENST00000326232.14|NM_207113.3" +HGNC:4061 SLC37A4 solute carrier family 37 member 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "GSD1b|GSD1c|GSD1d" "G6PT1|G6PT2|G6PT3" "glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1|solute carrier family 37 (glucose-6-phosphate transporter), member 4" Solute carriers 752 1998-07-15 2003-09-10 2016-02-17 2021-04-13 2542 ENSG00000137700 OTTHUMG00000166352 uc058idd.1 Y15409 NM_001467 O43826 "9428641|9463334" MGI:1316650 RGD:62066 LRG_187|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_187.xml 602671 SLC37A4 119474 objectId:1168 HGNC:4061 HGNC:4061 +HGNC:13447 SLC38A1 solute carrier family 38 member 1 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "ATA1|NAT2|SAT1" solute carrier family 38, member 1 Solute carriers 752 2002-01-22 2015-12-08 2019-08-20 81539 ENSG00000111371 OTTHUMG00000169470 uc001rpb.5 AF271070 NM_001077484 "CCDS61106|CCDS41774" Q9H2H9 10891391 MGI:2145895 RGD:69645 608490 SLC38A1 objectId:1169 HGNC:13447 "ENST00000398637.10|NM_030674.4" +HGNC:13448 SLC38A2 solute carrier family 38 member 2 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "SAT2|ATA2|KIAA1382|SNAT2" solute carrier family 38, member 2 Solute carriers 752 2002-01-25 2015-12-08 2015-12-08 54407 ENSG00000134294 OTTHUMG00000169471 uc001rpg.4 AB037803 NM_001307936 "CCDS8749|CCDS76551" Q96QD8 "10747860|17237199" MGI:1915010 RGD:69420 605180 SLC38A2 objectId:1170 HGNC:13448 "ENST00000256689.10|NM_018976.5" +HGNC:55454 SLC38A2-AS1 SLC38A2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.11 12q13.11 Antisense RNAs 1987 2021-01-20 2021-01-20 102723757 ENSG00000258096 XR_001749103 +HGNC:18044 SLC38A3 solute carrier family 38 member 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "G17|SN1" solute carrier family 38, member 3 Solute carriers 752 2002-01-22 2015-12-08 2016-10-05 10991 ENSG00000188338 OTTHUMG00000156764 uc032rmu.2 U49082 NM_006841 CCDS74940 Q99624 "10619430|10823827" MGI:1923507 RGD:628620 604437 SLC38A3 objectId:1172 HGNC:18044 "ENST00000614032.5|NM_006841.6" +HGNC:14679 SLC38A4 solute carrier family 38 member 4 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "PAAT|NAT3|ATA3" solute carrier family 38, member 4 Solute carriers 752 2002-01-25 2015-12-08 2017-03-22 55089 ENSG00000139209 OTTHUMG00000169518 uc001rpj.2 AF193836 NM_001143824 CCDS8750 Q969I6 11414754 MGI:1916604 RGD:621836 608065 SLC38A4 objectId:1171 HGNC:14679 "ENST00000266579.9|NM_018018.5" +HGNC:56178 SLC38A4-AS1 SLC38A4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.11 12q13.11 Antisense RNAs 1987 2022-01-14 2022-01-14 100288798 ENSG00000257261 NR_125377 +HGNC:18070 SLC38A5 solute carrier family 38 member 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "SN2|JM24" solute carrier family 38, member 5 Solute carriers 752 2002-01-25 2015-12-08 2020-04-02 92745 ENSG00000017483 OTTHUMG00000024117 uc033ecm.1 AF276889 NM_033518 CCDS14293 Q8WUX1 11243884 MGI:2148066 RGD:620702 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLC38A5 300649 SLC38A5 objectId:1173 HGNC:18070 "ENST00000620913.5|NM_033518.4" +HGNC:19863 SLC38A6 solute carrier family 38 member 6 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 NAT-1 solute carrier family 38, member 6 Solute carriers 752 2002-12-10 2015-12-08 2015-12-08 145389 ENSG00000139974 OTTHUMG00000140335 uc001xfg.3 AF070578 NM_001172702 "CCDS53900|CCDS9751" Q8IZM9 MGI:3648156 RGD:1310330 616518 SLC38A6 objectId:1174 HGNC:19863 "ENST00000267488.9|NM_153811.3" +HGNC:25582 SLC38A7 solute carrier family 38 member 7 protein-coding gene gene with protein product Approved 16q21 16q21 FLJ10815 solute carrier family 38, member 7 Solute carriers 752 2008-01-22 2015-12-08 2015-12-08 55238 ENSG00000103042 OTTHUMG00000133491 uc002eod.2 BC001961 NM_018231 "CCDS10800|CCDS76883" Q9NVC3 MGI:2679005 RGD:1303268 614236 SLC38A7 objectId:1175 HGNC:25582 "ENST00000219320.9|NM_018231.3" +HGNC:32434 SLC38A8 solute carrier family 38 member 8 protein-coding gene gene with protein product Approved 16q23.3 16q23.3 solute carrier family 38, member 8 Solute carriers 752 2008-02-18 2015-12-08 2019-08-20 146167 ENSG00000166558 OTTHUMG00000176588 uc002fhg.1 NM_001080442 CCDS32495 A6NNN8 MGI:2685433 RGD:1560237 615585 SLC38A8 400638 objectId:1176 HGNC:32434 "ENST00000299709.8|NM_001080442.3" HGNC:32434 +HGNC:26907 SLC38A9 solute carrier family 38 member 9 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 FLJ90709 solute carrier family 38, member 9 Solute carriers 752 2008-02-18 2015-12-08 2015-12-08 153129 ENSG00000177058 OTTHUMG00000131189 uc003jqf.3 NM_173514 "CCDS3968|CCDS58947|CCDS75243|CCDS58948" Q8NBW4 "25561175|25567906" MGI:1918839 RGD:1311881 616203 SLC38A9 objectId:1177 HGNC:26907 "ENST00000396865.7|NM_173514.4" +HGNC:28237 SLC38A10 solute carrier family 38 member 10 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC15523|PP1744" solute carrier family 38, member 10 Solute carriers 752 2008-02-18 2015-12-08 2015-12-08 124565 ENSG00000157637 OTTHUMG00000168049 uc002kab.5 BC014642 NM_138570 "CCDS42397|CCDS11780" Q9HBR0 MGI:1919305 RGD:1306356 616525 SLC38A10 objectId:1178 HGNC:28237 "ENST00000374759.8|NM_001037984.3" +HGNC:26836 SLC38A11 solute carrier family 38 member 11 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "FLJ39822|AVT2" solute carrier family 38, member 11 Solute carriers 752 2008-02-18 2015-12-08 2015-12-08 151258 ENSG00000169507 OTTHUMG00000132144 uc002ucu.3 NM_173512 "CCDS56142|CCDS2224" Q08AI6 MGI:2443383 RGD:1306005 616526 SLC38A11 objectId:1179 HGNC:26836 "ENST00000685975.1|NM_001351537.2" +HGNC:12876 SLC39A1 solute carrier family 39 member 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 ZIP1 ZIRTL "zinc/iron regulated transporter-like|solute carrier family 39 (zinc transporter), member 1" "Solute carriers|MicroRNA protein coding host genes" "752|1691" 2000-02-07 2002-02-15 2016-02-17 2016-10-05 27173 ENSG00000143570 OTTHUMG00000037158 uc031ppi.1 BC007886 NM_014437 "CCDS1055|CCDS72920" Q9NY26 "10610721|10681536" MGI:1353474 RGD:1305241 604740 SLC39A1 objectId:1180 HGNC:12876 "ENST00000356205.9|NM_001271958.2" +HGNC:17127 SLC39A2 solute carrier family 39 member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 ZIP2 solute carrier family 39 (zinc transporter), member 2 Solute carriers 752 2002-02-12 2016-02-17 2016-10-05 29986 ENSG00000165794 OTTHUMG00000029616 uc001vyr.4 AF186081 NM_014579 "CCDS58303|CCDS9563" Q9NP94 "10681536|7751801" MGI:2684326 RGD:1306291 612166 SLC39A2 objectId:1181 HGNC:17127 "ENST00000298681.5|NM_014579.4" +HGNC:17128 SLC39A3 solute carrier family 39 member 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ZIP3 solute carrier family 39 (zinc transporter), member 3 Solute carriers 752 2002-02-12 2016-02-17 2016-02-17 29985 ENSG00000141873 OTTHUMG00000180440 uc002lwg.4 AF052125 NM_144564 "CCDS12093|CCDS45909" Q9BRY0 10681536 MGI:2147269 RGD:1310863 612168 SLC39A3 objectId:1182 HGNC:17128 "ENST00000269740.9|NM_144564.5" +HGNC:17129 SLC39A4 solute carrier family 39 member 4 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "ZIP4|AWMS2" AEZ "acrodermatitis enteropathica, zinc-deficiency type|solute carrier family 39 (zinc transporter), member 4" Solute carriers 752 2002-02-13 2016-02-17 2016-11-01 55630 ENSG00000147804 OTTHUMG00000165208 uc003zcq.4 AK025537 NM_001280557 "CCDS6424|CCDS43782" Q6P5W5 "12801924|12659941|14709598" MGI:1919277 RGD:1306701 607059 SLC39A4 119482 objectId:1183 HGNC:17129 "ENST00000301305.8|NM_130849.4" HGNC:17129 +HGNC:20502 SLC39A5 solute carrier family 39 member 5 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "solute carrier family 39 (metal ion transporter), member 5|solute carrier family 39 (zinc transporter), member 5" Solute carriers 752 2003-10-08 2016-02-17 2016-02-17 283375 ENSG00000139540 OTTHUMG00000156962 uc010sqj.3 NM_173596 CCDS8912 Q6ZMH5 MGI:1919336 RGD:1310322 608730 SLC39A5 objectId:1184 HGNC:20502 "ENST00000454355.7|NM_173596.3" +HGNC:18607 SLC39A6 solute carrier family 39 member 6 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 LIV-1 "solute carrier family 39 (metal ion transporter), member 6|solute carrier family 39 (zinc transporter), member 6" Solute carriers 752 2003-10-08 2016-02-17 2019-08-20 25800 ENSG00000141424 OTTHUMG00000178965 uc010dmy.4 U41060 NM_001099406 "CCDS42428|CCDS45854" Q13433 "12659941|12839489" MGI:2147279 RGD:1304664 608731 SLC39A6 objectId:1185 HGNC:18607 "ENST00000269187.10|NM_012319.4" +HGNC:4927 SLC39A7 solute carrier family 39 member 7 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "H2-KE4|D6S2244E|KE4|RING5|ZIP7" HKE4 "HLA class II region expressed gene KE4|solute carrier family 39 (zinc transporter), member 7" Solute carriers 752 2000-07-25 2003-10-27 2016-02-17 2016-10-05 7922 ENSG00000112473 OTTHUMG00000031238 uc003odf.4 AF117221 NM_006979 CCDS43453 Q92504 "8812499|1855816|19246244|15705588" MGI:95909 RGD:1593280 601416 SLC39A7 objectId:1186 HGNC:4927 "ENST00000374677.8|NM_006979.3" +HGNC:20862 SLC39A8 solute carrier family 39 member 8 protein-coding gene gene with protein product Approved 4q24 04q24 BIGM103 "solute carrier family 39 (metal ion transporter), member 8|solute carrier family 39 (zinc transporter), member 8" Solute carriers 752 2003-10-08 2016-02-17 2016-02-17 64116 ENSG00000138821 OTTHUMG00000131120 uc011ceo.2 NM_022154 "CCDS47117|CCDS3656" Q9C0K1 "12504855|12659941" MGI:1914797 RGD:1308236 608732 SLC39A8 476906 objectId:1187 HGNC:20862 "ENST00000356736.5|NM_001135146.2" HGNC:20862 +HGNC:20182 SLC39A9 solute carrier family 39 member 9 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 FLJ11274 solute carrier family 39, member 9 Solute carriers 752 2003-10-08 2015-12-08 2019-08-20 55334 ENSG00000029364 OTTHUMG00000171232 uc001xle.5 NM_018375 "CCDS81816|CCDS9795|CCDS58328|CCDS58327" Q9NUM3 MGI:1914820 RGD:1311236 619116 SLC39A9 objectId:1188 HGNC:20182 "ENST00000336643.10|NM_018375.5" +HGNC:20861 SLC39A10 solute carrier family 39 member 10 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "KIAA1265|FLJ90515|DKFZp564L2123" "solute carrier family 39 (metal ion transporter), member 10|solute carrier family 39 (zinc transporter), member 10" Solute carriers 752 2003-10-08 2016-02-17 2018-11-19 57181 ENSG00000196950 OTTHUMG00000154380 uc002utg.5 NM_001127257 CCDS33353 Q9ULF5 12659941 MGI:1914515 RGD:1307321 608733 SLC39A10 objectId:1189 HGNC:20861 "ENST00000359634.10|NM_020342.3" +HGNC:14463 SLC39A11 solute carrier family 39 member 11 protein-coding gene gene with protein product Approved 17q24.3-q25.1 17q24.3-q25.1 C17orf26 "chromosome 17 open reading frame 26|solute carrier family 39, member 11" Solute carriers 752 2001-03-05 2003-10-24 2015-12-08 2018-02-13 201266 ENSG00000133195 OTTHUMG00000178306 uc002jja.4 AF331643 NM_001159770 "CCDS11690|CCDS54160" Q8N1S5 11707075 MGI:1917056 RGD:1311981 616508 SLC39A11 objectId:1190 HGNC:14463 "ENST00000255559.8|NM_139177.4" +HGNC:20860 SLC39A12 solute carrier family 39 member 12 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 FLJ30499 "solute carrier family 39 (metal ion transporter), member 12|solute carrier family 39 (zinc transporter), member 12" Solute carriers 752 2003-10-08 2016-02-17 2016-02-17 221074 ENSG00000148482 OTTHUMG00000017759 uc001ipo.2 NM_152725 "CCDS7124|CCDS44362|CCDS60494|CCDS60493" Q504Y0 12659941 MGI:2139274 RGD:1309305 608734 SLC39A12 471084 objectId:1191 HGNC:20860 "ENST00000377369.7|NM_001145195.2" +HGNC:44881 SLC39A12-AS1 SLC39A12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.33 10p12.33 Antisense RNAs 1987 2012-12-11 2018-03-15 100129213 ENSG00000226083 OTTHUMG00000017758 uc001ipq.1 NR_038419 SLC39A12-AS1 HGNC:44881 +HGNC:20859 SLC39A13 solute carrier family 39 member 13 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 FLJ25785 "solute carrier family 39 (metal ion transporter), member 13|solute carrier family 39 (zinc transporter), member 13" Solute carriers 752 2003-10-08 2016-02-17 2016-02-17 91252 ENSG00000165915 OTTHUMG00000166890 uc001nff.5 NM_152264 "CCDS44592|CCDS7934|CCDS81564" Q96H72 12659941 MGI:1915677 RGD:1304695 608735 SLC39A13 159403 objectId:1192 HGNC:20859 "ENST00000362021.9|NM_001128225.3" HGNC:20859 +HGNC:20858 SLC39A14 solute carrier family 39 member 14 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "KIAA0062|NET34|ZIP14" "solute carrier family 39 (metal ion transporter), member 14|solute carrier family 39 (zinc transporter), member 14" Solute carriers 752 2003-10-23 2016-02-17 2018-11-19 23516 ENSG00000104635 OTTHUMG00000097791 uc003xbp.5 D31887 NM_001128431 "CCDS47823|CCDS6030|CCDS47822" Q15043 12659941 MGI:2384851 RGD:1307026 608736 SLC39A14 objectId:1193 HGNC:20858 "ENST00000381237.6|NM_001128431.4" HGNC:20858 +HGNC:10909 SLC40A1 solute carrier family 40 member 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "MTP1|IREG1|FPN1|HFE4" ferroportin 1 SLC11A3 "solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3|solute carrier family 40 (iron-regulated transporter), member 1" Solute carriers 752 2000-01-04 2003-06-05 2016-02-17 2021-04-13 30061 ENSG00000138449 OTTHUMG00000132662 uc002uqp.5 AF215636 NM_014585 CCDS2299 Q9NP59 10828623 MGI:1315204 RGD:620180 LRG_837|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_837.xml 604653 SLC40A1 119486 objectId:1194 HGNC:10909 "ENST00000261024.7|NM_014585.6" HGNC:10909 +HGNC:19429 SLC41A1 solute carrier family 41 member 1 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 MgtE solute carrier family 41 (magnesium transporter), member 1 Solute carriers 752 2003-02-26 2016-02-17 2016-02-17 254428 ENSG00000133065 OTTHUMG00000036000 uc001hdh.2 AJ514402 NM_173854 CCDS30988 Q8IVJ1 "12810078|18367447" MGI:2444823 RGD:1311397 610801 SLC41A1 471088 objectId:1195 HGNC:19429 "ENST00000367137.4|NM_173854.6" +HGNC:31045 SLC41A2 solute carrier family 41 member 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 DKFZP434K0427 "solute carrier family 41, member 2|solute carrier family 41 (magnesium transporter), member 2" Solute carriers 752 2004-03-11 2016-02-17 2016-10-05 84102 ENSG00000136052 OTTHUMG00000156965 uc001tla.4 BC036734 NM_032148 CCDS9100 Q96JW4 MGI:2442940 RGD:1307292 610802 SLC41A2 objectId:1196 HGNC:31045 "ENST00000258538.8|NM_001352171.3" +HGNC:31046 SLC41A3 solute carrier family 41 member 3 protein-coding gene gene with protein product Approved 3q21.2-q21.3 03q21.2-q21.3 FLJ20473 solute carrier family 41, member 3 Solute carriers 752 2004-01-26 2015-12-08 2018-02-13 54946 ENSG00000114544 OTTHUMG00000162678 uc062njm.1 NM_017836 "CCDS54635|CCDS33844|CCDS33842|CCDS33843|CCDS43144" Q96GZ6 MGI:1918949 RGD:1589573 610803 SLC41A3 objectId:1197 HGNC:31046 "ENST00000360370.9|NM_017836.4" +HGNC:55559 SLC41A3-AS1 SLC41A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q21.2 03q21.2 Antisense RNAs 1987 2021-04-08 2021-04-08 112267887 ENSG00000250012 +HGNC:9225 SLC43A1 solute carrier family 43 member 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "R00504|PB39" POV1 "prostate cancer overexpressed gene 1|solute carrier family 43 (amino acid system L transporter), member 1" Solute carriers 752 1998-10-02 2003-09-12 2016-02-17 2016-02-17 8501 ENSG00000149150 OTTHUMG00000167030 uc001nkl.4 AF045584 NM_003627 CCDS7958 O75387 "9255310|9722952" MGI:1931352 RGD:1308229 603733 SLC43A1 objectId:1201 HGNC:9225 "ENST00000278426.8|NM_003627.6" +HGNC:23087 SLC43A2 solute carrier family 43 member 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 MGC34680 solute carrier family 43 (amino acid system L transporter), member 2 Solute carriers 752 2004-11-17 2016-02-17 2016-02-17 124935 ENSG00000167703 OTTHUMG00000090345 uc002fsv.5 BC027923 NM_152346 "CCDS67107|CCDS67108|CCDS11006" Q8N370 23268354 MGI:2442746 RGD:1305819 610791 SLC43A2 objectId:1202 HGNC:23087 "ENST00000301335.10|NM_152346.3" +HGNC:17466 SLC43A3 solute carrier family 43 member 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "SEEEG-1|Eeg1|DKFZp762A227|FOAP-13|PRO1659" likely ortholog of mouse embryonic epithelial gene 1 solute carrier family 43, member 3 Solute carriers 752 2004-02-16 2015-12-08 2016-10-05 29015 ENSG00000134802 OTTHUMG00000167113 uc001nki.4 AL157431 NM_017611 "CCDS7956|CCDS60784" Q8NBI5 "7531438|11704567" MGI:1931054 RGD:1312016 618034 SLC43A3 objectId:1203 HGNC:17466 "ENST00000395124.6|NM_199329.3" +HGNC:18798 SLC44A1 solute carrier family 44 member 1 protein-coding gene gene with protein product Approved 9q31.1-q31.2 09q31.1-q31.2 "CDw92|CTL1|CHTL1|CD92" CDW92 "CDW92 antigen|solute carrier family 44 (choline transporter), member 1" "CD molecules|Solute carriers" "471|752" 2004-02-06 2005-09-06 2016-02-17 2018-02-13 23446 ENSG00000070214 OTTHUMG00000020421 uc004bcn.5 AJ420812 NM_080546 "CCDS6763|CCDS83390|CCDS75868" Q8WWI5 "11698453|10677542" MGI:2140592 RGD:621426 606105 SLC44A1 objectId:1204 CDW92 HGNC:18798 "ENST00000374720.8|NM_080546.5" HGNC:18798 +HGNC:17292 SLC44A2 solute carrier family 44 member 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 CTL2 solute carrier family 44 (choline transporter), member 2 Solute carriers 752 2005-09-06 2016-02-17 2016-02-17 57153 ENSG00000129353 OTTHUMG00000180585 uc002mpf.4 AF070636 NM_001145056 "CCDS54216|CCDS12245|CCDS86700" Q8IWA5 "10677542|15715662" MGI:1915932 RGD:1309680 606106 SLC44A2 objectId:1205 HGNC:17292 "ENST00000335757.10|NM_020428.4" +HGNC:28689 SLC44A3 solute carrier family 44 member 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "MGC45474|CTL3" "solute carrier family, member 3|solute carrier family 44, member 3" Solute carriers 752 2005-09-06 2015-12-08 2016-10-05 126969 ENSG00000143036 OTTHUMG00000010700 uc001dqv.6 BC033858 NM_152369 "CCDS72827|CCDS751|CCDS44176|CCDS58011|CCDS58013|CCDS58012" Q8N4M1 "15715662|12975309" MGI:2384860 RGD:1305808 SLC44A3 objectId:1206 HGNC:28689 "ENST00000271227.11|NM_001114106.3" +HGNC:49057 SLC44A3-AS1 SLC44A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p21.3 01p21.3 LINC01057 long intergenic non-protein coding RNA 1057 Antisense RNAs 1987 2013-08-19 2017-01-12 2017-01-12 2020-04-20 101928079 ENSG00000224081 OTTHUMG00000010701 BC030750 NR_104131 HGNC:49057 +HGNC:54781 SLC44A3P1 SLC44A3 pseudogene 1 pseudogene pseudogene Approved 2q32.3 02q32.3 2020-01-08 2020-01-08 100420669 ENSG00000232658 NG_023755 +HGNC:13941 SLC44A4 solute carrier family 44 member 4 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "NG22|CTL4|FLJ14491|TPPT|DFNA72" C6orf29 "chromosome 6 open reading frame 29|solute carrier family 44, member 4" Solute carriers 752 2002-04-05 2005-09-06 2015-12-08 2017-08-15 80736 ENSG00000204385 OTTHUMG00000031133 uc063wub.1 AF134726 NM_001178044 "CCDS4724|CCDS54989|CCDS54990" Q53GD3 "10677542|15715662|24379411|28013291" MGI:1917379 RGD:1303167 606107 SLC44A4 objectId:1207 HGNC:13941 "ENST00000229729.11|NM_025257.3" HGNC:13941 +HGNC:28524 SLC44A5 solute carrier family 44 member 5 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "MGC34032|CTL5" solute carrier family 44, member 5 Solute carriers 752 2005-09-06 2015-12-08 2015-12-08 204962 ENSG00000137968 OTTHUMG00000009721 uc001dgu.4 BC034580 NM_152697 "CCDS667|CCDS44164" Q8NCS7 15715662 MGI:3035141 RGD:1564620 SLC44A5 objectId:1208 HGNC:28524 "ENST00000370859.8|NM_001130058.2" +HGNC:17939 SLC45A1 solute carrier family 45 member 1 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 H+/sugar symporter DNB5 "deleted in neuroblastoma 5|solute carrier family 45, member 1" Solute carriers 752 2003-03-06 2005-10-04 2015-12-08 2016-04-25 50651 ENSG00000162426 OTTHUMG00000000503 uc001apb.3 AF118274 NM_001080397 CCDS30577 Q9Y2W3 10729226 MGI:2653235 RGD:708502 605763 SLC45A1 objectId:1209 HGNC:17939 "ENST00000471889.7|NM_001080397.3" HGNC:17939 +HGNC:16472 SLC45A2 solute carrier family 45 member 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "AIM-1|OCA4" MATP "membrane associated transporter|solute carrier family 45, member 2" Solute carriers 752 2003-08-12 2005-10-06 2015-12-08 2016-10-05 51151 ENSG00000164175 OTTHUMG00000090719 uc003jid.4 AF172849 NM_016180 "CCDS75232|CCDS3901|CCDS43308" Q9UMX9 "11916009|11574907" MGI:2153040 RGD:1306690 "Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the Membrane-associated Transport Protein Gene (MATP)|http://www.retina-international.org/files/sci-news/matpmut.htm" 606202 SLC45A2 119665 objectId:1210 HGNC:16472 "ENST00000296589.9|NM_016180.5" HGNC:16472 +HGNC:8642 SLC45A3 solute carrier family 45 member 3 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "IPCA-6|prostein|IPCA-2|IPCA-8" "PCANAP6|PCANAP2|PCANAP8" "prostate cancer associated protein 6|prostate cancer associated protein 2|prostate cancer associated protein 8|solute carrier family 45, member 3" Solute carriers 752 2000-04-13 2005-10-04 2015-12-08 2015-12-08 85414 ENSG00000158715 OTTHUMG00000037223 uc001hda.2 AF109301 NM_033102 CCDS1458 Q96JT2 "10613842|11245466" MGI:1922082 RGD:1309764 SLC45A3 605097 SLC45A3 objectId:1211 HGNC:8642 "ENST00000367145.4|NM_033102.3" +HGNC:29196 SLC45A4 solute carrier family 45 member 4 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA1126 solute carrier family 45, member 4 Solute carriers 752 2005-10-04 2015-12-08 2018-11-19 57210 ENSG00000022567 OTTHUMG00000164393 uc003ywd.3 AB032952 NM_001286646 "CCDS69550|CCDS34948|CCDS75795" Q5BKX6 25164149 MGI:2146236 RGD:1309971 619581 SLC45A4 objectId:1212 HGNC:29196 "ENST00000517878.6|NM_001286646.2" +HGNC:30521 SLC46A1 solute carrier family 46 member 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "HCP1|MGC9564|PCFT" "heme carrier protein 1|proton-coupled folate transporter" "solute carrier family 46, member 1|solute carrier family 46 (folate transporter), member 1" Solute carriers 752 2007-03-29 2016-02-17 2021-04-13 113235 ENSG00000076351 OTTHUMG00000179415 uc032ezi.2 AK054669 NM_080669 "CCDS74020|CCDS74019" Q96NT5 "16143108|17129779" MGI:1098733 RGD:1309472 LRG_183|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_183.xml 611672 SLC46A1 139193 objectId:1213 HGNC:30521 "ENST00000612814.5|NM_080669.6" HGNC:30521 +HGNC:16055 SLC46A2 solute carrier family 46 member 2 protein-coding gene gene with protein product Approved 9q32 09q32 Ly110 TSCOT "thymic stromal co-transporter|solute carrier family 46, member 2" Solute carriers 752 2001-07-10 2007-03-29 2015-12-08 2015-12-08 57864 ENSG00000119457 OTTHUMG00000020513 uc004bgk.3 AF242557 NM_033051 CCDS6786 Q9BY10 "10978518|12826694" MGI:1353616 RGD:1310485 608956 SLC46A2 objectId:1214 HGNC:16055 "ENST00000374228.5|NM_033051.4" +HGNC:27501 SLC46A3 solute carrier family 46 member 3 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "DKFZp686A1775|FLJ42613" solute carrier family 46, member 3 Solute carriers 752 2007-03-29 2015-12-08 2015-12-08 283537 ENSG00000139508 OTTHUMG00000016650 uc001ush.4 NM_181785 "CCDS9332|CCDS45021" Q7Z3Q1 MGI:1918956 RGD:1307594 616764 SLC46A3 objectId:1215 HGNC:27501 "ENST00000266943.11|NM_181785.4" +HGNC:25588 SLC47A1 solute carrier family 47 member 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLJ10847|MATE1" multidrug and toxin extrusion 1 solute carrier family 47 (multidrug and toxin extrusion), member 1 "Solute carriers|Small nucleolar RNA protein coding host genes" "752|1835" 2007-05-03 2016-02-17 2016-02-17 55244 ENSG00000142494 OTTHUMG00000059466 uc002gvy.2 NM_018242 CCDS11209 Q96FL8 "16330770|16996621|16928787" "MGI:1914723|MGI:3588190" RGD:1311123 609832 SLC47A1 objectId:1216 HGNC:25588 "ENST00000270570.8|NM_018242.3" +HGNC:51849 SLC47A1P1 SLC47A1 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 solute carrier family 47 (multidrug and toxin extrusion), member 1 pseudogene 1 2015-09-10 2018-05-01 2018-05-01 107075108 ENSG00000228983 OTTHUMG00000130722 NG_046556 PGOHUM00000294309 HGNC:51849 +HGNC:53866 SLC47A1P2 SLC47A1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2018-05-01 2018-05-01 112451549 ENSG00000231625 OTTHUMG00000178204 NR_170227 PGOHUM00000294310 +HGNC:26439 SLC47A2 solute carrier family 47 member 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLJ31196|MATE2|MATE2-K" multidrug and toxin extrusion 2 solute carrier family 47 (multidrug and toxin extrusion), member 2 Solute carriers 752 2007-05-18 2016-02-17 2016-02-17 146802 ENSG00000180638 OTTHUMG00000059464 uc002gwe.5 AB250364 NM_152908 "CCDS58530|CCDS11211" Q86VL8 "16996621|16807400" "MGI:1914723|MGI:3588190" RGD:1562382 609833 SLC47A2 objectId:1217 HGNC:26439 "ENST00000433844.4|NM_001099646.3" +HGNC:26035 SLC48A1 solute carrier family 48 member 1 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "FLJ20489|hHRG-1|HRG1" solute carrier family 48 (heme transporter), member 1 Solute carriers 752 2008-10-17 2016-02-17 2016-02-17 55652 ENSG00000211584 OTTHUMG00000156983 uc001rqd.4 NM_017842 CCDS8755 Q6P1K1 18418376 MGI:1914989 RGD:1562880 612187 SLC48A1 objectId:1218 HGNC:26035 "ENST00000442218.3|NM_017842.3" +HGNC:26177 SLC49A3 solute carrier family 49 member 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "FLJ22269|LP2561" MFSD7 major facilitator superfamily domain containing 7 Solute carriers 752 2006-02-14 2017-11-24 2017-11-24 2017-11-24 84179 ENSG00000169026 OTTHUMG00000119001 uc003gax.4 AK025922 NM_032219 "CCDS77883|CCDS3338|CCDS75086" Q6UXD7 "12975309|23506900" MGI:2442629 RGD:1304688 SLC49A3 objectId:1912 HGNC:26177 "ENST00000322224.9|NM_032219.4" +HGNC:16628 SLC49A4 solute carrier family 49 member 4 protein-coding gene gene with protein product Approved 3q21.1 03q21.1 "FLJ14784|RCC4" "renal cell carcinoma 4|disrupted in renal cancer protein 2" DIRC2 disrupted in renal carcinoma 2 Solute carriers 752 2002-03-19 2018-10-18 2018-10-18 2018-10-18 84925 ENSG00000138463 OTTHUMG00000159553 uc003efw.5 AK027690 NM_032839 CCDS3018 Q96SL1 11912179 MGI:2387188 RGD:1310939 602773 SLC49A4 objectId:1913 HGNC:16628 "ENST00000261038.6|NM_032839.3" +HGNC:30657 SLC50A1 solute carrier family 50 member 1 protein-coding gene gene with protein product Approved 1q22 01q22 "SCP|RP11-540D14.5|slv|RZPDo834D038D|HsSWEET1|SWEET1" stromal cell protein RAG1AP1 "recombination activating gene 1 activating protein 1|solute carrier family 50 (sugar efflux transporter), member 1" Solute carriers 752 2005-10-11 2010-11-30 2016-02-17 2016-02-17 55974 ENSG00000169241 OTTHUMG00000035333 uc001fhj.5 "AF126023|AF126024" NM_018845 "CCDS72930|CCDS44238|CCDS1093|CCDS72929|CCDS44239" Q9BRV3 21107422 MGI:107417 RGD:1308478 613683 SLC50A1 objectId:1914 HGNC:30657 "ENST00000368404.9|NM_018845.4" +HGNC:29955 SLC51A solute carrier family 51 subunit alpha protein-coding gene gene with protein product Approved 3q29 03q29 OSTalpha organic solute transporter, alpha subunit Solute carriers 752 2012-08-03 2019-11-26 2019-11-26 200931 ENSG00000163959 OTTHUMG00000155684 uc003fwd.4 NM_152672 CCDS3314 Q86UW1 "12719432|20538072" MGI:2146634 RGD:1311100 612084 SLC51A objectId:1915 HGNC:29955 "ENST00000296327.10|NM_152672.6" +HGNC:29956 SLC51B solute carrier family 51 subunit beta protein-coding gene gene with protein product Approved 15q22.31 15q22.31 OSTbeta organic solute transporter beta subunit Solute carriers 752 2012-08-03 2019-11-26 2019-11-26 123264 ENSG00000186198 OTTHUMG00000133116 uc002aog.3 NM_178859 CCDS10199 Q86UW2 "12719432|20538072" MGI:3582052 RGD:1565748 612085 SLC51B objectId:1916 HGNC:29956 "ENST00000334287.3|NM_178859.4" +HGNC:30225 SLC52A1 solute carrier family 52 member 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FLJ10060|GPCR42|PAR2|hRFT1|RFVT1" riboflavin transporter 1 GPR172B "G protein-coupled receptor 172B|solute carrier family 52 (riboflavin transporter), member 1" Solute carriers 752 2004-07-19 2012-02-29 2016-02-17 2016-10-05 55065 ENSG00000132517 OTTHUMG00000099448 uc002gap.5 AY070775 NM_017986 CCDS11066 Q9NWF4 "12740431|18632736" MGI:1289288 607883 SLC52A1 321640 objectId:2571 HGNC:30225 "ENST00000254853.10|NM_017986.4" HGNC:30225 +HGNC:30224 SLC52A2 solute carrier family 52 member 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FLJ11856|PAR1|GPCR41|D15Ertd747e|RFVT2|hRFT3" GPR172A "G protein-coupled receptor 172A|solute carrier family 52 (riboflavin transporter), member 2" Solute carriers 752 2004-07-19 2012-02-29 2016-02-17 2016-10-25 79581 ENSG00000185803 OTTHUMG00000165168 uc003zcc.4 AY070774 NM_024531 CCDS6423 Q9HAB3 12740431 MGI:1289288 RGD:1560410 607882 SLC52A2 304678 objectId:2572 HGNC:30224 "ENST00000643944.2|NM_001363118.2" HGNC:30224 +HGNC:16187 SLC52A3 solute carrier family 52 member 3 protein-coding gene gene with protein product Approved 20p13 20p13 "bA371L19.1|hRFT2|RFVT3" hypothetical protein LOC113278 C20orf54 "chromosome 20 open reading frame 54|solute carrier family 52 (riboflavin transporter), member 3" Solute carriers 752 2001-07-17 2012-02-29 2016-02-17 2021-04-13 113278 ENSG00000101276 OTTHUMG00000031647 uc284pqm.1 AL118502 NM_033409 CCDS13007 Q9NQ40 "11780052|19122205" MGI:1916948 RGD:1304644 LRG_1394|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1394.xml 613350 SLC52A3 227053 objectId:2573 HGNC:16187 "ENST00000645534.1|NM_033409.4" HGNC:16187 +HGNC:26001 SLC66A1 solute carrier family 66 member 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "FLJ20320|LAAT-1|LAAT1" lysosomal amino acid transporter 1 homolog PQLC2 PQ loop repeat containing 2 Solute carriers 752 2004-01-14 2019-05-14 2019-05-14 2019-05-14 54896 ENSG00000040487 OTTHUMG00000002521 uc001bby.4 BC015324 NM_017765 "CCDS195|CCDS30618" Q6ZP29 23169667 MGI:2384837 RGD:1311627 614760 objectId:3160 HGNC:26001 "ENST00000375153.8|NM_001040125.2" +HGNC:25146 SLC66A1L solute carrier family 66 member 1 like protein-coding gene gene with protein product Approved 3q25.32 03q25.32 "C3orf55|PQLC2L" "chromosome 3 open reading frame 55|PQ loop repeat containing 2 like" 2006-02-01 2019-05-14 2019-05-14 2019-05-14 152078 ENSG00000174899 OTTHUMG00000158748 BC029129 NM_001130002 "CCDS46942|CCDS46943|CCDS46944|CCDS58859" A1A4F0 22363504 HGNC:25146 +HGNC:26188 SLC66A2 solute carrier family 66 member 2 protein-coding gene gene with protein product Approved 18q23 18q23 FLJ22378 PQLC1 PQ loop repeat containing 1 Solute carriers 752 2004-01-14 2019-05-14 2019-05-14 2019-05-14 80148 ENSG00000122490 OTTHUMG00000132921 uc002lnl.3 AK123870 NM_025078 "CCDS12020|CCDS54192|CCDS54193" Q8N2U9 12477932 MGI:1914193 RGD:1305223 objectId:3161 HGNC:26188 "ENST00000397778.7|NM_025078.5" +HGNC:43986 SLC66A2P1 SLC66A2 pseudogene 1 pseudogene pseudogene Approved 7q21.13 07q21.13 PQLC1P1 PQ loop repeat containing 1 pseudogene 1 2012-05-23 2021-03-24 2021-03-24 2021-03-24 106479032 ENSG00000231763 OTTHUMG00000154430 NG_044359 PGOHUM00000232913 HGNC:43986 +HGNC:43987 SLC66A2P2 SLC66A2 pseudogene 2 pseudogene pseudogene Approved 4q21.22 04q21.22 PQLC1P2 PQ loop repeat containing 1 pseudogene 2 2012-05-23 2021-03-24 2021-03-24 2021-03-24 100127906 NG_011784 PGOHUM00000245983 HGNC:43987 +HGNC:28503 SLC66A3 solute carrier family 66 member 3 protein-coding gene gene with protein product Approved 2p25.1 02p25.1 MGC33602 "C2orf22|PQLC3" "chromosome 2 open reading frame 22|PQ loop repeat containing 3" Solute carriers 752 2004-02-05 2019-05-14 2019-05-14 2019-05-14 130814 ENSG00000162976 OTTHUMG00000119055 uc002rbc.5 BC027625 NM_152391 "CCDS1679|CCDS62856|CCDS62857" Q8N755 12477932 MGI:2444067 RGD:1306818 objectId:3162 HGNC:28503 "ENST00000295083.8|NM_152391.5" +HGNC:10956 SLCO1A2 solute carrier organic anion transporter family member 1A2 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "OATP|OATP1A2|OATP-A" SLC21A3 "solute carrier family 21 (organic anion transporter), member 3|solute carrier organic anion transporter family, member 1A2" Solute carriers 752 1997-12-05 2003-11-26 2015-11-18 2016-10-05 6579 ENSG00000084453 OTTHUMG00000156259 uc001res.3 NM_021094 CCDS8686 P46721 9007731 "MGI:3647159|MGI:1351896|MGI:1351906|MGI:1351891|MGI:1351865|MGI:3643685" 602883 SLCO1A2 objectId:1219 HGNC:10956 "ENST00000683939.1|NM_001386879.1" +HGNC:10959 SLCO1B1 solute carrier organic anion transporter family member 1B1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "OATP-C|LST-1|OATP1B1" SLC21A6 "solute carrier family 21 (organic anion transporter), member 6|solute carrier organic anion transporter family, member 1B1" Solute carriers 752 1999-11-26 2003-11-26 2015-11-18 2021-04-13 10599 ENSG00000134538 OTTHUMG00000169047 uc001req.5 NM_006446 CCDS8685 Q9Y6L6 10358072 MGI:1351899 LRG_1022|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1022.xml 604843 SLCO1B1 241999 objectId:1220 HGNC:10959 "ENST00000256958.3|NM_006446.5" HGNC:10959 +HGNC:10961 SLCO1B3 solute carrier organic anion transporter family member 1B3 protein-coding gene gene with protein product Approved 12p12.2 12p12.2 "OATP8|OATP1B3" SLC21A8 "solute carrier family 21 (organic anion transporter), member 8|solute carrier organic anion transporter family, member 1B3" Solute carriers 752 2000-02-02 2003-11-26 2015-11-18 2016-11-09 28234 ENSG00000111700 OTTHUMG00000169011 uc001rel.5 NM_019844 CCDS8684 Q9NPD5 MGI:1351899 RGD:69300 605495 SLCO1B3 292437 objectId:1221 HGNC:10961 "ENST00000381545.8|NM_019844.4" HGNC:10961 +HGNC:54403 SLCO1B3-SLCO1B7 SLCO1B3-SLCO1B7 readthrough other readthrough Approved 12p12.2 12p12.2 "OATP1B3-1B7|LST-3TM12" 2019-06-28 2019-06-28 115072896 ENSG00000257046 AY257471 NM_001371097 "29248594|31127008" HGNC:54403 +HGNC:32934 SLCO1B7 solute carrier organic anion transporter family member 1B7 (putative) protein-coding gene gene with protein product Approved 12p12.2 12p12.2 "LST3|SLC21A21" "solute carrier organic anion transporter family, member 1B7 (non-functional)|solute carrier organic anion transporter family member 1B7 (non-functional)" Solute carriers 752 2011-07-12 2016-01-29 2016-10-05 338821 ENSG00000205754 OTTHUMG00000169045 uc010sin.2 AF401642 NM_001009562 CCDS44843 G3V0H7 MGI:1351899 SLCO1B7 HGNC:32934 HGNC:32934 +HGNC:13819 SLCO1C1 solute carrier organic anion transporter family member 1C1 protein-coding gene gene with protein product Approved 12p12.2 12p12.2 "OATP-F|OATP1C1|OATP1" SLC21A14 "solute carrier family 21 (organic anion transporter), member 14|solute carrier organic anion transporter family, member 1C1" Solute carriers 752 2000-11-09 2003-11-26 2015-11-18 2015-11-18 53919 ENSG00000139155 OTTHUMG00000168966 uc001rei.3 AF260704 NM_017435 "CCDS8683|CCDS53759|CCDS53758|CCDS53757" Q9NYB5 MGI:1889679 RGD:628660 613389 SLCO1C1 objectId:1222 HGNC:13819 "ENST00000266509.7|NM_017435.5" HGNC:13819 +HGNC:10955 SLCO2A1 solute carrier organic anion transporter family member 2A1 protein-coding gene gene with protein product Approved 3q22.1-q22.2 03q22.1-q22.2 "PGT|OATP2A1" "SLC21A2|MATR1" "solute carrier family 21 (prostaglandin transporter), member 2|matrin F/G 1|solute carrier organic anion transporter family, member 2A1" Solute carriers 752 1996-11-15 2003-11-26 2015-11-18 2021-04-13 6578 ENSG00000174640 OTTHUMG00000159745 uc003eqa.4 NM_005630 CCDS3084 Q92959 "8787677|9618293" MGI:1346021 RGD:3051 LRG_841|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_841.xml 601460 SLCO2A1 291830 objectId:1223 HGNC:10955 "ENST00000310926.11|NM_005630.3" HGNC:10955 +HGNC:10962 SLCO2B1 solute carrier organic anion transporter family member 2B1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "OATP-B|OATP2B1" SLC21A9 "solute carrier family 21 (organic anion transporter), member 9|solute carrier organic anion transporter family, member 2B1" Solute carriers 752 2000-02-01 2003-11-26 2015-11-18 2019-08-20 11309 ENSG00000137491 OTTHUMG00000165420 uc001owb.4 AB026256 NM_007256 "CCDS44683|CCDS53679|CCDS8235" O94956 MGI:1351872 RGD:621391 604988 SLCO2B1 objectId:1224 HGNC:10962 "ENST00000289575.10|NM_007256.5" +HGNC:10952 SLCO3A1 solute carrier organic anion transporter family member 3A1 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "OATP-D|OATP3A1" SLC21A11 "solute carrier family 21 (organic anion transporter), member 11|solute carrier organic anion transporter family, member 3A1" Solute carriers 752 2000-02-01 2003-11-26 2015-11-18 2016-10-05 28232 ENSG00000176463 OTTHUMG00000149846 uc002bqx.3 AB031050 NM_013272 "CCDS45354|CCDS10371" Q9UIG8 MGI:1351867 RGD:620227 612435 SLCO3A1 objectId:1225 HGNC:10952 "ENST00000318445.11|NM_013272.4" +HGNC:10953 SLCO4A1 solute carrier organic anion transporter family member 4A1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "OATP-E|OATP4A1" SLC21A12 "solute carrier family 21 (organic anion transporter), member 12|solute carrier organic anion transporter family, member 4A1" Solute carriers 752 2000-02-01 2003-11-26 2015-11-18 2016-10-05 28231 ENSG00000101187 OTTHUMG00000032923 uc002ydb.1 AB031051 NM_016354 CCDS13501 Q96BD0 10873595 MGI:1351866 RGD:620228 612436 SLCO4A1 I01.972 objectId:1226 HGNC:10953 "ENST00000217159.6|NM_016354.4" +HGNC:40537 SLCO4A1-AS1 SLCO4A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2014-06-13 2019-07-17 100127888 ENSG00000232803 OTTHUMG00000032925 NR_024470 31308265 SLCO4A1-AS1 HGNC:40537 +HGNC:56052 SLCO4A1-AS2 SLCO4A1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2021-12-09 2021-12-09 101928465 ENSG00000277496 XR_244126 +HGNC:23612 SLCO4C1 solute carrier organic anion transporter family member 4C1 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "SLC21A20|OATP4C1|OATPX|OATP-H" solute carrier organic anion transporter family, member 4C1 Solute carriers 752 2003-11-25 2015-11-18 2016-10-05 353189 ENSG00000173930 OTTHUMG00000162757 uc003knm.4 AY273896 NM_180991 CCDS34205 Q6ZQN7 MGI:2442784 RGD:1303048 609013 SLCO4C1 objectId:1227 HGNC:23612 "ENST00000310954.7|NM_180991.5" +HGNC:19046 SLCO5A1 solute carrier organic anion transporter family member 5A1 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "OATPRP4|OATP-J|OATP5A1" SLC21A15 "solute carrier family 21 (organic anion transporter), member 15|solute carrier organic anion transporter family, member 5A1" Solute carriers 752 2003-03-31 2003-11-26 2015-11-18 2016-10-05 81796 ENSG00000137571 OTTHUMG00000165121 uc003xyl.4 AF205075 NM_030958 "CCDS55243|CCDS55242|CCDS6205" Q9H2Y9 12507753 MGI:2443431 RGD:1307132 613543 SLCO5A1 I01.972 objectId:1228 HGNC:19046 "ENST00000260126.9|NM_030958.3" +HGNC:55595 SLCO5A1-AS1 SLCO5A1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q13.3 08q13.3 Antisense RNAs 1987 2021-04-29 2021-04-29 2021-04-29 2021-09-29 101929759 ENSG00000246528 XR_007060957 +HGNC:23613 SLCO6A1 solute carrier organic anion transporter family member 6A1 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "OATP6A1|OATPY|MGC26949|CT48" cancer/testis antigen 48 solute carrier organic anion transporter family, member 6A1 Solute carriers 752 2003-11-25 2015-11-18 2016-10-05 133482 ENSG00000205359 OTTHUMG00000162759 uc003knp.4 AF505657 NM_173488 "CCDS75282|CCDS78042|CCDS34206" Q86UG4 "MGI:1921691|MGI:1918116" RGD:620278 613365 SLCO6A1 objectId:1229 HGNC:23613 "ENST00000506729.6|NM_173488.5" +HGNC:25408 SLF1 SMC5-SMC6 complex localization factor 1 protein-coding gene gene with protein product Approved 5q15 05q15 "DKFZp761C121|DKFZp564C0469|BRCTx" "BRCTD1|ANKRD32" "BRCT domain containing 1|ankyrin repeat domain 32" Ankyrin repeat domain containing 403 2004-06-04 2015-07-10 2015-07-10 2015-07-10 84250 ENSG00000133302 OTTHUMG00000121133 AL136560 NM_032290 CCDS4071 Q9BQI6 "15632077|25931565" MGI:2145448 RGD:1304857 618467 HGNC:25408 "ENST00000265140.10|NM_032290.4" +HGNC:17814 SLF2 SMC5-SMC6 complex localization factor 2 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "FLJ10512|FLJ25012" "C10orf6|FAM178A" "chromosome 10 open reading frame 6|family with sequence similarity 178, member A" 2003-02-04 2015-07-10 2015-07-10 2015-09-02 55719 ENSG00000119906 OTTHUMG00000018919 AF460991 NM_001136123 "CCDS7500|CCDS44470|CCDS65918" Q8IX21 "12459258|25931565" MGI:1924968 RGD:1560300 610348 HGNC:17814 "ENST00000238961.9|NM_018121.4" +HGNC:28286 SLFN5 schlafen family member 5 protein-coding gene gene with protein product Approved 17q12 17q12 MGC19764 Schlafen family 1110 2006-04-05 2020-04-01 162394 ENSG00000166750 OTTHUMG00000179858 uc002hjf.5 BX647942 NM_144975 "CCDS32619|CCDS82106" Q08AF3 9846487 MGI:1329004 RGD:1312025 614952 HGNC:28286 "ENST00000299977.9|NM_144975.4" +HGNC:26633 SLFN11 schlafen family member 11 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ34922 Schlafen family 1110 2006-04-05 2017-11-28 91607 ENSG00000172716 OTTHUMG00000132948 uc002hjh.5 AK074184 NM_152270 CCDS11294 Q7Z7L1 23570387 "MGI:2445121|MGI:2672859" RGD:1359139 614953 HGNC:26633 "ENST00000685675.1|NM_001376007.1" +HGNC:25500 SLFN12 schlafen family member 12 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ10260 Schlafen family 1110 2006-04-05 2019-10-08 55106 ENSG00000172123 OTTHUMG00000132952 uc010cts.5 AK001122 NM_018042 CCDS11295 Q8IYM2 "30045019|31026779" "MGI:1313259|MGI:1329010" RGD:620455 614955 HGNC:25500 "ENST00000304905.10|NM_018042.5" +HGNC:33920 SLFN12L schlafen family member 12 like protein-coding gene gene with protein product Approved 17q12 17q12 schlafen family member 12-like Schlafen family 1110 2007-12-18 2016-04-04 2021-10-14 100506736 ENSG00000205045 OTTHUMG00000167707 uc021tuy.2 AK172761 NM_001195790 "CCDS86591|CCDS56026" Q6IEE8 9846487 "MGI:1313258|MGI:1313259|MGI:1329010" RGD:1308645 614956 HGNC:33920 "ENST00000628453.4|NM_001363830.2" +HGNC:26481 SLFN13 schlafen family member 13 protein-coding gene gene with protein product Approved 17q12 17q12 FLJ31952 Schlafen family 1110 2006-04-05 2020-04-01 146857 ENSG00000154760 OTTHUMG00000165108 uc002hjl.2 AL832726 NM_144682 CCDS32620 Q68D06 "9846487|29563550" "MGI:2445121|MGI:2672859|MGI:3512288" 614957 HGNC:26481 "ENST00000285013.11|NM_144682.6" +HGNC:32689 SLFN14 schlafen family member 14 protein-coding gene gene with protein product Approved 17q12 17q12 Schlafen family 1110 2006-04-05 2021-05-26 342618 ENSG00000236320 OTTHUMG00000179912 uc010ctu.2 NM_001129820 CCDS45650 P0C7P3 "9846487|29678925" MGI:2684866 LRG_1114|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1114.xml 614958 471110 HGNC:32689 "ENST00000674182.1|NM_001129820.2" HGNC:32689 +HGNC:26313 SLFNL1 schlafen like 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 FLJ23878 schlafen-like 1 Schlafen family 1110 2006-04-05 2015-11-11 2015-11-11 200172 ENSG00000171790 OTTHUMG00000005719 uc057fhm.1 BC022037 NM_144990 "CCDS72766|CCDS460" Q499Z3 MGI:3045330 RGD:1564075 HGNC:26313 "ENST00000302946.13|NM_144990.4" +HGNC:44126 SLFNL1-AS1 SLFNL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 SLFNL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100507178 ENSG00000281207 OTTHUMG00000189531 uc021omd.1 AL157461 NR_037868 SLFNL1-AS1 HGNC:44126 +HGNC:20495 SLIRP SRA stem-loop interacting RNA binding protein protein-coding gene gene with protein product Approved 14q24.3 14q24.3 DC50 C14orf156 chromosome 14 open reading frame 156 RNA binding motif containing 725 2004-06-11 2011-06-17 2011-06-17 2016-11-16 81892 ENSG00000119705 OTTHUMG00000171526 uc001xue.7 AF253980 NM_031210 "CCDS73668|CCDS58331|CCDS9866" Q9GZT3 16762838 MGI:1916394 RGD:1585290 610211 HGNC:20495 "ENST00000557342.6|NM_031210.6" +HGNC:55149 SLIRPP1 SLIRP. pseudogene 1 pseudogene pseudogene Approved Xq27.3 Xq27.3 2020-07-15 2020-07-15 100287757 ENSG00000227505 NG_030164 +HGNC:55150 SLIRPP2 SLIRP. pseudogene 2 pseudogene pseudogene Approved 4p15.2 04p15.2 2020-07-15 2020-07-15 100913179 ENSG00000249277 NG_032809 +HGNC:11085 SLIT1 slit guidance ligand 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "MEGF4|Slit-1|SLIT3" SLIL1 "slit (Drosophila) homolog 1|slit homolog 1 (Drosophila)" 1998-03-25 2015-06-26 2020-05-04 6585 ENSG00000187122 OTTHUMG00000018843 uc001kmw.3 AB011537 NM_003061 CCDS7453 O75093 "9693030|9813312" MGI:1315203 RGD:69307 603742 HGNC:11085 "ENST00000266058.9|NM_003061.3" +HGNC:51198 SLIT1-AS1 SLIT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q24.1 10q24.1 Antisense RNAs 1987 2014-08-01 2014-08-01 100505540 ENSG00000234855 OTTHUMG00000018842 NR_038330 SLIT1-AS1 HGNC:51198 +HGNC:11086 SLIT2 slit guidance ligand 2 protein-coding gene gene with protein product Approved 4p15.31 04p15.31 Slit-2 SLIL3 "slit (Drosophila) homolog 2|slit homolog 2 (Drosophila)" MicroRNA protein coding host genes 1691 1999-06-11 2015-06-26 2016-10-05 9353 ENSG00000145147 OTTHUMG00000128551 uc003gpr.3 AF055585 NM_001289135 "CCDS75111|CCDS75110|CCDS3426" O94813 "9813312|18269211" MGI:1315205 RGD:69310 603746 HGNC:11086 "ENST00000504154.6|NM_004787.4" +HGNC:41383 SLIT2-IT1 SLIT2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 4p15.31 04p15.31 SLIT2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-08-23 2015-02-25 2015-02-25 100505893 ENSG00000248228 OTTHUMG00000160239 uc003gpt.3 NR_037876 SLIT2-IT1 HGNC:41383 +HGNC:11087 SLIT3 slit guidance ligand 3 protein-coding gene gene with protein product Approved 5q34-q35.1 05q34-q35.1 "slit2|MEGF5|SLIT1|Slit-3" SLIL2 "slit (Drosophila) homolog 3|slit homolog 3 (Drosophila)" MicroRNA protein coding host genes 1691 1998-03-25 2015-06-26 2018-02-13 6586 ENSG00000184347 OTTHUMG00000130409 uc003mab.5 AB011538 NM_003062 "CCDS64311|CCDS4369" O75094 "9693030|9813312" MGI:1315202 RGD:69311 603745 HGNC:11087 "ENST00000519560.6|NM_003062.4" +HGNC:40553 SLIT3-AS1 SLIT3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.1 05q35.1 Antisense RNAs 1987 2020-03-27 2020-03-27 728095 ENSG00000248222 OTTHUMG00000163054 NR_109897 +HGNC:40551 SLIT3-AS2 SLIT3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Antisense RNAs 1987 2020-03-27 2020-03-27 101927969 ENSG00000254042 OTTHUMG00000163055 NR_130737 +HGNC:20297 SLITRK1 SLIT and NTRK like family member 1 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 KIAA1910 LRRC12 "leucine rich repeat containing 12|SLIT and NTRK-like family, member 1" SLIT and NTRK like family 1828 2004-01-08 2015-11-18 2021-05-26 114798 ENSG00000178235 OTTHUMG00000017149 uc001vlk.4 AB067497 NM_052910 CCDS9464 Q96PX8 "14557068|12975309" MGI:2679446 RGD:1308858 609678 119716 HGNC:20297 "ENST00000674365.1|NM_001281503.2" HGNC:20297 +HGNC:13449 SLITRK2 SLIT and NTRK like family member 2 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "KIAA1854|CXorf2" "SLITL1|TMEM257|CXorf1" "slit-like 1 (Drosophila)|SLIT and NTRK-like family, member 2|transmembrane protein 257|chromosome X open reading frame 1" SLIT and NTRK like family 1828 2004-03-11 2015-11-18 2020-04-02 84631 ENSG00000185985 OTTHUMG00000022595 uc033eyj.2 Y19205 NM_032539 CCDS14680 Q9H156 "11347906|14557068" MGI:2679449 RGD:1561361 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLITRK2 300561 HGNC:13449 "ENST00000335565.6|NM_032539.5" +HGNC:23501 SLITRK3 SLIT and NTRK like family member 3 protein-coding gene gene with protein product Approved 3q26.1 03q26.1 KIAA0848 SLIT and NTRK-like family, member 3 SLIT and NTRK like family 1828 2004-01-08 2015-11-18 2015-11-18 22865 ENSG00000121871 OTTHUMG00000158072 uc003fek.4 AB020655 NM_014926 CCDS3197 O94933 "10048485|14557068" MGI:2679447 RGD:1310506 609679 HGNC:23501 "ENST00000475390.2|NM_001318810.2" +HGNC:23502 SLITRK4 SLIT and NTRK like family member 4 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 DKFZp547M2010 SLIT and NTRK-like family, member 4 SLIT and NTRK like family 1828 2004-01-08 2015-11-18 2020-04-02 139065 ENSG00000179542 OTTHUMG00000022580 uc022cfm.2 BC040986 NM_173078 CCDS14679 Q8IW52 14557068 MGI:2442509 RGD:1588563 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SLITRK4 300562 HGNC:23502 "ENST00000356928.2|NM_001184749.3" +HGNC:20295 SLITRK5 SLIT and NTRK like family member 5 protein-coding gene gene with protein product Approved 13q31.2 13q31.2 "bA364G4.2|KIAA0918" LRRC11 "leucine rich repeat containing 11|SLIT and NTRK-like family, member 5" SLIT and NTRK like family 1828 2004-04-16 2015-11-18 2016-10-05 26050 ENSG00000165300 OTTHUMG00000017167 uc001vln.4 AB020725 NM_001384609 CCDS9465 O94991 "10048485|14557068" MGI:2679448 RGD:1310957 609680 HGNC:20295 "ENST00000683689.1|NM_001384609.1" +HGNC:23503 SLITRK6 SLIT and NTRK like family member 6 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 FLJ22774 SLIT and NTRK-like family, member 6 SLIT and NTRK like family 1828 2004-01-08 2015-11-18 2021-05-26 84189 ENSG00000184564 OTTHUMG00000017157 uc001vll.2 AK026427 NM_032229 CCDS41903 Q9H5Y7 14557068 MGI:2443198 RGD:1306550 LRG_1357|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1357.xml 609681 353699 HGNC:23503 "ENST00000647374.2|NM_032229.3" HGNC:23503 +HGNC:11088 SLK STE20 like kinase protein-coding gene gene with protein product Approved 10q24.33-q25.1 10q24.33-q25.1 "STK2|se20-9|KIAA0204" "SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)|STE20-like kinase (yeast)|STE20-like kinase" 1992-04-16 2015-12-04 2018-02-13 9748 ENSG00000065613 OTTHUMG00000018999 uc001kxo.2 NM_014720 "CCDS76334|CCDS7553" Q9H2G2 3526554 MGI:103241 RGD:3780 616563 objectId:2200 HGNC:11088 "ENST00000369755.4|NM_014720.4" +HGNC:16643 SLMAP sarcolemma associated protein protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "SLAP|KIAA1601" Sarcolemmal-associated protein STRIPAK complex 1371 2001-12-03 2021-05-26 7871 ENSG00000163681 OTTHUMG00000133764 uc062kya.1 AF100750 NM_007159 "CCDS77758|CCDS33774|CCDS77759|CCDS77757" Q14BN4 "9405447|11042152" MGI:1933549 RGD:1307674 602701 408692 HGNC:16643 "ENST00000671191.1|NM_001377540.1" HGNC:16643 +HGNC:11089 SLN sarcolipin protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "MGC12301|MGC125854|MGC125855" 1997-07-22 2014-11-18 6588 ENSG00000170290 OTTHUMG00000166364 uc058hag.1 U96094 NM_003063 CCDS31667 O00631 9367679 MGI:1913652 RGD:1305224 602203 HGNC:11089 "ENST00000305991.3|NM_003063.3" +HGNC:11092 SLPI secretory leukocyte peptidase inhibitor protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "HUSI-I|ALK1|ALP|BLPI|HUSI|WAP4|WFDC4" antileukoproteinase secretory leukocyte protease inhibitor (antileukoproteinase) WAP four-disulfide core domain containing 361 1998-04-24 2005-08-17 2014-11-19 6590 ENSG00000124107 OTTHUMG00000033075 uc002xnm.2 X04502 NM_003064 CCDS13347 P03973 "3640338|12206714" MGI:109297 RGD:621768 107285 LI17-001 HGNC:11092 "ENST00000338380.2|NM_003064.4" +HGNC:20709 SLTM SAFB like transcription modulator protein-coding gene gene with protein product Approved 15q22.1 15q22.1 "Met|FLJ13213" RNA binding motif containing 725 2005-11-08 2016-01-13 2016-10-05 79811 ENSG00000137776 OTTHUMG00000074033 uc002afp.3 BC046119 NM_024755 CCDS10168 Q9NWH9 MGI:1913910 RGD:1307526 HGNC:20709 "ENST00000380516.7|NM_024755.4" +HGNC:16939 SLU7 SLU7 homolog, splicing factor protein-coding gene gene with protein product Approved 5q33.3 05q33.3 9G8 SLU7 splicing factor homolog (S. cerevisiae) "NTC associated proteins|Spliceosomal C complex|Spliceosomal P complex|U11 small nuclear ribonucleoprotein" "1498|1510|1516|2045" 2006-11-27 2015-07-30 2015-07-30 10569 ENSG00000164609 OTTHUMG00000130324 uc003lyg.4 AF101074 NM_006425 CCDS4352 O95391 "10197984|15728250" MGI:2385598 RGD:631432 605974 HGNC:16939 "ENST00000297151.9|NM_006425.5" +HGNC:18746 SLURP1 secreted LY6/PLAUR domain containing 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "ARS|ANUP|MDM|ArsB|LY6LS|LY6-MT" "lymphocyte antigen 6-like secreted|ARS component B" LY6/PLAUR domain containing 1226 2004-11-16 2019-02-14 57152 ENSG00000126233 OTTHUMG00000164685 uc003ywy.3 AY579080 NM_020427 CCDS6387 P55000 "11285253|10211827" MGI:1930923 RGD:1308768 606119 119720 HGNC:18746 "ENST00000246515.2|NM_020427.3" HGNC:18746 +HGNC:25549 SLURP2 secreted LY6/PLAUR domain containing 2 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 LY6/PLAUR domain containing 1226 2016-03-29 2017-11-23 432355 ENSG00000283992 OTTHUMG00000164694 AB081838 NM_177458 CCDS34952 P0DP57 "12573258|26033490" MGI:1916712 RGD:1308195 HGNC:25549 "ENST00000317543.12|NM_177458.3" +HGNC:20922 SLX1A SLX1 homolog A, structure-specific endonuclease subunit protein-coding gene gene with protein product Approved 16p11.2 16p11.2 GIYD1 "GIY-YIG domain containing 1|SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae)" 2005-05-05 2010-09-13 2015-07-31 2015-09-08 548593 ENSG00000132207 OTTHUMG00000176859 uc002dxg.4 NM_001014999 "CCDS32431|CCDS32432" Q9BQ83 "15358107|19595721" MGI:1915220 RGD:1311568 615822 HGNC:20922 "ENST00000251303.11|NM_001014999.3" +HGNC:44437 SLX1A-SULT1A3 SLX1A-SULT1A3 readthrough (NMD candidate) other readthrough Approved 16p11.2 16p11.2 SLX1A-SULT1A3 readthrough (non-protein coding) 2012-10-08 2013-05-09 2013-05-09 100526830 ENSG00000213599 OTTHUMG00000048084 uc059tcc.1 NR_037608 HGNC:44437 +HGNC:28748 SLX1B SLX1 homolog B, structure-specific endonuclease subunit protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC5178 GIYD2 "GIY-YIG domain containing 2|SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae)" 2005-05-05 2010-09-13 2015-07-31 2015-08-26 79008 ENSG00000181625 OTTHUMG00000132110 uc002dsx.4 BC015990 NM_024044 "CCDS10649|CCDS10648" Q9BQ83 "15358107|19595721" MGI:1915220 615823 HGNC:28748 "ENST00000330181.9|NM_024044.4" +HGNC:48353 SLX1B-SULT1A4 SLX1B-SULT1A4 readthrough (NMD candidate) other readthrough Approved 16p11.2 16p11.2 2013-05-10 2013-05-10 100526831 ENSG00000260280 OTTHUMG00000176758 NR_037609 HGNC:48353 +HGNC:23845 SLX4 SLX4 structure-specific endonuclease subunit protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA1784|KIAA1987|FANCP" Fanconi anemia, complementation group P BTBD12 "BTB (POZ) domain containing 12|SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)" "FA complementation groups|BTB domain containing" "548|861" 2003-12-15 2010-09-13 2013-06-05 2021-05-26 84464 ENSG00000188827 OTTHUMG00000074089 uc002cvp.3 AB058687 NM_032444 CCDS10506 Q8IY92 "11347906|19595721" MGI:106299 RGD:1566009 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_503|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_503.xml" 613278 259354 HGNC:23845 "ENST00000294008.4|NM_032444.4" HGNC:23845 +HGNC:16225 SLX4IP SLX4 interacting protein protein-coding gene gene with protein product Approved 20p12.2 20p12.2 dJ1099D15.3 C20orf94 chromosome 20 open reading frame 94 2001-07-17 2012-10-30 2012-10-30 2016-10-05 128710 ENSG00000149346 OTTHUMG00000031873 uc010zre.3 AL035456 NM_001009608 CCDS33439 Q5VYV7 19596235 MGI:1921493 RGD:1563120 615958 HGNC:16225 "ENST00000334534.10|NM_001009608.3" +HGNC:15811 SLX9 SLX9 ribosome biogenesis factor protein-coding gene gene with protein product Approved 21q22.3 21q22.3 PRED56 "C21orf70|FAM207A" "chromosome 21 open reading frame 70|family with sequence similarity 207 member A" Ribosomal biogenesis factors 1729 2001-06-14 2021-05-21 2021-05-21 2021-05-21 85395 ENSG00000160256 OTTHUMG00000090293 uc002zgl.4 NM_058190 "CCDS13718|CCDS82682" Q9NSI2 MGI:1916334 RGD:1311257 HGNC:15811 "ENST00000291634.11|NM_058190.4" +HGNC:6767 SMAD1 SMAD family member 1 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "MADR1|JV4-1" MADH1 "MAD, mothers against decapentaplegic homolog 1 (Drosophila)|SMAD, mothers against DPP homolog 1 (Drosophila)" SMAD family 750 1996-11-15 2004-05-26 2006-11-06 2021-05-26 4086 ENSG00000170365 OTTHUMG00000161592 uc003ikc.4 U59423 NM_005900 CCDS3765 Q15797 "8653785|8673135" MGI:109452 RGD:3030 601595 HGNC:6767 "ENST00000302085.9|NM_005900.3" +HGNC:49379 SMAD1-AS1 SMAD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 ENST00000513542 Antisense RNAs 1987 2013-10-22 2013-10-23 104326058 ENSG00000250902 OTTHUMG00000162186 AW087665 NR_126371 24147006 SMAD1-AS1 HGNC:49379 +HGNC:49381 SMAD1-AS2 SMAD1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 Antisense RNAs 1987 2013-10-22 2013-10-22 101927659 ENSG00000250582 OTTHUMG00000162185 BC042377 NR_108077 SMAD1-AS2 HGNC:49381 +HGNC:6768 SMAD2 SMAD family member 2 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "MADR2|JV18-1" MADH2 "MAD, mothers against decapentaplegic homolog 2 (Drosophila)|SMAD, mothers against DPP homolog 2 (Drosophila)" SMAD family 750 1996-11-15 2004-05-26 2006-11-06 2021-05-26 4087 ENSG00000175387 OTTHUMG00000132652 uc002lcy.5 U65019 NM_005901 CCDS11934 Q15796 "8752209|8673135" MGI:108051 RGD:3031 SMAD2 601366 471112 HGNC:6768 "ENST00000262160.11|NM_005901.6" HGNC:6768 +HGNC:6769 SMAD3 SMAD family member 3 protein-coding gene gene with protein product Approved 15q22.33 15q22.33 "JV15-2|HsT17436" MADH3 "MAD, mothers against decapentaplegic homolog 3 (Drosophila)|SMAD, mothers against DPP homolog 3 (Drosophila)" SMAD family 750 1996-11-15 2004-05-26 2006-11-06 2021-05-26 4088 ENSG00000166949 OTTHUMG00000133230 uc002aqj.4 BC050743 NM_005902 "CCDS10222|CCDS45288|CCDS53951|CCDS53950" P84022 "8774881|8673135" MGI:1201674 RGD:3032 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=SMAD3 SMAD3 603109 260331 HGNC:6769 "ENST00000327367.9|NM_005902.4" HGNC:6769 +HGNC:6770 SMAD4 SMAD family member 4 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 DPC4 MADH4 "MAD, mothers against decapentaplegic homolog 4 (Drosophila)|SMAD, mothers against DPP homolog 4 (Drosophila)" SMAD family 750 1996-11-15 2004-05-26 2006-11-06 2021-05-26 4089 ENSG00000141646 OTTHUMG00000132696 uc060pfa.1 U44378 NM_005359 CCDS11950 Q13485 "8553070|8774881" MGI:894293 RGD:3033 LRG_318|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_318.xml SMAD4 600993 119727 HGNC:6770 "ENST00000342988.8|NM_005359.6" HGNC:6770 +HGNC:6771 SMAD5 SMAD family member 5 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "Dwfc|JV5-1" MADH5 "MAD, mothers against decapentaplegic homolog 5 (Drosophila)|SMAD, mothers against DPP homolog 5 (Drosophila)" SMAD family 750 1997-07-01 2004-05-26 2006-11-06 2016-10-25 4090 ENSG00000113658 OTTHUMG00000163212 uc032vlx.1 U59913 NM_005903 CCDS75308 Q99717 8673135 MGI:1328787 RGD:620158 603110 HGNC:6771 "ENST00000545279.6|NM_005903.7" +HGNC:30586 SMAD5-AS1 SMAD5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 DAMS SMAD5OS "SMAD family member 5 opposite strand|SMAD5 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2007-07-02 2011-04-13 2012-08-15 2014-11-18 9597 ENSG00000164621 OTTHUMG00000163216 uc003lbi.5 AF086556 NR_026763 Q9Y6J3 10049768 SMAD5-AS1 HGNC:30586 +HGNC:6772 SMAD6 SMAD family member 6 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 HsT17432 "MADH7|MADH6" "MAD, mothers against decapentaplegic homolog 6 (Drosophila)|SMAD, mothers against DPP homolog 6 (Drosophila)" SMAD family 750 1997-08-22 2004-05-26 2006-11-06 2021-05-26 4091 ENSG00000137834 OTTHUMG00000133218 uc002aqf.4 BC012986 NM_005585 CCDS10221 O43541 9256479 MGI:1336883 RGD:1305069 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=SMAD6 602931 310221 HGNC:6772 "ENST00000288840.10|NM_005585.5" HGNC:6772 +HGNC:6773 SMAD7 SMAD family member 7 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 "MADH8|MADH7" "MAD, mothers against decapentaplegic homolog 7 (Drosophila)|SMAD, mothers against DPP homolog 7 (Drosophila)" SMAD family 750 1997-08-22 2004-05-26 2006-11-06 2015-08-26 4092 ENSG00000101665 OTTHUMG00000132655 uc002ldg.3 AF010193 NM_005904 "CCDS11936|CCDS59317|CCDS54186" O15105 "9256479|9730599" MGI:1100518 RGD:69314 602932 471114 HGNC:6773 "ENST00000262158.8|NM_005904.4" +HGNC:6774 SMAD9 SMAD family member 9 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "SMAD8|SMAD8/9" "MADH6|MADH9" "MAD, mothers against decapentaplegic homolog 9 (Drosophila)|SMAD, mothers against DPP homolog 9 (Drosophila)" SMAD family 750 1997-07-25 2004-05-26 2006-11-06 2021-05-26 4093 ENSG00000120693 OTTHUMG00000016740 uc001uvw.3 NM_005905 "CCDS9360|CCDS45032" O15198 9205116 MGI:1859993 RGD:71004 LRG_703|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_703.xml 603295 189338 HGNC:6774 "ENST00000379826.5|NM_001127217.3" HGNC:6774 +HGNC:39963 SMAD9-IT1 SMAD9 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 SMAD9-AS1 "SMAD9 antisense RNA 1 (non-protein coding)|SMAD9 antisense RNA 1" Intronic transcripts 1989 2011-04-18 2014-05-12 2014-05-12 2014-11-19 100874072 ENSG00000236711 OTTHUMG00000016743 SMAD9-IT1 +HGNC:26918 SMAGP small cell adhesion glycoprotein protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "MGC149453|MGC149454|hSMAGP" small trans-membrane and glycosylated protein 2009-09-21 2010-02-17 57228 ENSG00000170545 OTTHUMG00000185196 uc001rye.2 NM_020467 CCDS44889 Q0VAQ4 15021913 MGI:2448476 RGD:727777 HGNC:26918 "ENST00000603798.6|NM_001031628.2" +HGNC:19651 SMAP1 small ArfGAP 1 protein-coding gene gene with protein product Approved 6q13 06q13 "FLJ13159|SMAP-1" "stromal membrane-associated protein 1|stromal membrane-associated GTPase-activating protein 1" ArfGAPs 395 2003-05-22 2008-09-05 2016-10-05 60682 ENSG00000112305 OTTHUMG00000014996 uc003pfs.5 AK023221 NM_001044305 "CCDS64459|CCDS4973|CCDS43478|CCDS75478" Q8IYB5 "9644265|12119110" MGI:2138261 RGD:1585595 611372 HGNC:19651 "ENST00000370455.8|NM_001044305.3" +HGNC:25082 SMAP2 small ArfGAP2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 SMAP1L "stromal membrane-associated protein 1-like|stromal membrane-associated GTPase-activating protein 2" ArfGAPs 395 2005-06-10 2008-01-09 2008-09-05 2016-10-05 64744 ENSG00000084070 OTTHUMG00000007301 uc001cfj.4 AL137764 NM_022733 "CCDS72763|CCDS55592|CCDS451|CCDS55593" Q8WU79 16571680 MGI:1917030 RGD:1308418 616916 HGNC:25082 "ENST00000372718.8|NM_022733.3" +HGNC:11097 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 protein-coding gene gene with protein product Approved Xq25-q26.1 Xq25-q26.1 "SNF2LB|NURF140|ISWI|SWI|hSNF2L" "SNF2L1|SNF2L" "Myb/SANT domain containing|NURF complex" "532|1363" 1992-11-30 2020-04-02 6594 ENSG00000102038 OTTHUMG00000022370 uc011mul.3 M88163 NM_003069 "CCDS76019|CCDS14612|CCDS76018" P28370 "1408766|14609955" MGI:1935127 RGD:1561046 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMARCA1 300012 HGNC:11097 "ENST00000371121.5|NM_001282874.2" HGNC:11097 +HGNC:11098 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 "BAF190|hSNF2a|hBRM|Sth1p|SNF2LA|BRM|SNF2|SWI2" brahma homolog SNF2L2 "Bromodomain containing|BAF complex|GBAF complex" "1232|1604|1606" 1994-07-22 2006-11-09 2021-04-13 6595 ENSG00000080503 OTTHUMG00000019445 uc064rwa.2 D26155 NM_003070 "CCDS83338|CCDS34978|CCDS75807|CCDS75808|CCDS83339|CCDS34977" P51531 8012116 MGI:99603 RGD:1302988 LRG_882|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_882.xml 600014 292297 objectId:2739 HGNC:11098 "ENST00000349721.8|NM_003070.5" HGNC:11098 +HGNC:56062 SMARCA2-AS1 SMARCA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.3 09p24.3 Antisense RNAs 1987 2021-12-10 2021-12-10 123706518 ENSG00000236199 +HGNC:11100 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "hSNF2b|BRG1|BAF190|SNF2|SWI2|SNF2-BETA|SNF2LB|FLJ39786" "SNF2-like 4|global transcription activator homologous sequence|sucrose nonfermenting-like 4|mitotic growth and transcription activator|BRM/SWI2-related gene 1|homeotic gene regulator|nuclear protein GRB1|brahma protein-like 1|ATP-dependent helicase SMARCA4" SNF2L4 "Bromodomain containing|BAF complex|PBAF complex|GBAF complex" "1232|1604|1605|1606" 1995-07-17 2006-11-09 2021-04-13 6597 ENSG00000127616 OTTHUMG00000169272 uc060tnr.1 D26156 NM_003072 "CCDS12253|CCDS45972|CCDS54218|CCDS54217|CCDS45973" P51532 8208605 MGI:88192 RGD:621728 LRG_878|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_878.xml SMARCA4 603254 225351 objectId:2740 HGNC:11100 "ENST00000344626.10|NM_003072.5" HGNC:11100 +HGNC:11101 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "hSNF2H|hISWI|ISWI" "Myb/SANT domain containing|Chromatin accessibility complex|B-WICH chromatin-remodelling complex subunits" "532|1633|1787" 1998-10-01 2020-03-04 8467 ENSG00000153147 OTTHUMG00000161474 uc003ijg.4 AB010882 NM_003601 CCDS3761 O60264 9730600 MGI:1935129 RGD:1308832 603375 376910 HGNC:11101 "ENST00000283131.4|NM_003601.4" +HGNC:39982 SMARCA5-AS1 SMARCA5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 SMARCA5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 100128055 ENSG00000245112 OTTHUMG00000161539 uc010iom.3 NR_104027 SMARCA5-AS1 HGNC:39982 +HGNC:18398 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 protein-coding gene gene with protein product Approved 4q22.3 04q22.3 "ETL1|DKFZP762K2015|KIAA1122|DKFZp762K2015" 2003-05-29 2015-01-28 56916 ENSG00000163104 OTTHUMG00000130971 uc003htc.5 AB032948 NM_020159 "CCDS58914|CCDS3639|CCDS47101" Q9H4L7 11031099 MGI:95453 RGD:1309640 612761 289472 HGNC:18398 "ENST00000354268.9|NM_020159.5" HGNC:18398 +HGNC:53364 SMARCAD1-DT SMARCAD1 divergent transcript non-coding RNA RNA, long non-coding Approved 4q22.2 04q22.2 Divergent transcripts 1990 2021-04-29 2021-04-29 101929210 ENSG00000246541 OTTHUMG00000161244 NR_125922 +HGNC:11102 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 protein-coding gene gene with protein product Approved 2q35 02q35 "HHARP|HARP" "HepA-related protein|ATP-driven annealing helicase" 2000-02-18 2016-05-10 2021-04-13 50485 ENSG00000138375 OTTHUMG00000133055 uc002vgc.5 AF210833 NM_001127207 CCDS2403 Q9NZC9 "10713074|10857751|18974355" MGI:1859183 RGD:1306134 "SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia|http://structure.bmc.lu.se/idbase/SMARCAL1base/|LRG_108|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_108.xml" 606622 119731 HGNC:11102 "ENST00000357276.9|NM_014140.4" HGNC:11102 +HGNC:40555 SMARCAL1-AS1 SMARCAL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2020-03-27 2020-03-27 107985985 ENSG00000235042 OTTHUMG00000154843 XR_001739881 +HGNC:11103 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "BAF47|Ini1|INI-1|Snr1|hSNFS|Sfh1p|RDT|PPP1R144|SNF5" "sucrose nonfermenting, yeast, homolog-like 1|integrase interactor 1|malignant rhabdoid tumor suppressor|protein phosphatase 1, regulatory subunit 144" SNF5L1 "Protein phosphatase 1 regulatory subunits|BAF complex|PBAF complex" "694|1604|1605" 1995-08-21 2021-11-12 6598 ENSG00000099956 OTTHUMG00000150737 uc002zyb.4 U04847 NM_003073 "CCDS82699|CCDS46671|CCDS13817" Q12824 "7801128|10319872|10365963" MGI:1328366 RGD:1308761 LRG_520|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_520.xml SMARCB1 601607 119735 HGNC:11103 "ENST00000644036.2|NM_003073.5" HGNC:11103 +HGNC:11104 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "BAF155|SRG3|Rsc8|CRACC1" SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 "Myb/SANT domain containing|BAF complex|PBAF complex|GBAF complex|Small nucleolar RNA protein coding host genes" "532|1604|1605|1606|1835" 1998-05-15 2016-04-04 2016-04-04 6599 ENSG00000173473 OTTHUMG00000133519 uc003crq.3 U66615 NM_003074 CCDS2758 Q92922 8804307 MGI:1203524 RGD:1304850 601732 HGNC:11104 "ENST00000254480.10|NM_003074.4" +HGNC:11105 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 "BAF170|Rsc8|CRACC2" SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 "Myb/SANT domain containing|BAF complex|PBAF complex" "532|1604|1605" 1998-05-15 2016-04-04 2016-11-09 6601 ENSG00000139613 OTTHUMG00000170288 uc001skb.4 U66616 NM_001130420 "CCDS81698|CCDS55835|CCDS8908|CCDS8907" Q8TAQ2 "8804307|9693044" MGI:1915344 RGD:1597704 601734 471116 HGNC:11105 "ENST00000550164.6|NM_001330288.2" HGNC:11105 +HGNC:11106 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "BAF60A|Rsc6p|CRACD1" "BAF complex|PBAF complex|GBAF complex" "1604|1605|1606" 1998-05-15 2016-10-05 6602 ENSG00000066117 OTTHUMG00000150194 uc001rvx.5 U66617 NM_003076 "CCDS8797|CCDS8798" Q96GM5 "8804307|9693044|12917342" MGI:1933623 RGD:1305406 SMARCD1 601735 HGNC:11106 "ENST00000394963.9|NM_003076.5" HGNC:11106 +HGNC:11107 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "BAF60B|Rsc6p|CRACD2|PRO2451" "mammalian chromatin remodeling complex BRG1-associated factor 60B|Swp73-like protein|chromatin remodeling complex BAF60B subunit|SWI/SNF complex 60 kDa subunit B" "BAF complex|PBAF complex|GBAF complex" "1604|1605|1606" 1998-05-15 2014-07-16 6603 ENSG00000108604 OTTHUMG00000179045 uc010deb.2 U66618 NM_001098426 "CCDS82188|CCDS45756|CCDS82187" Q92925 "8804307|9693044" MGI:1933621 RGD:69289 601736 HGNC:11107 "ENST00000448276.7|NM_001098426.2" HGNC:11107 +HGNC:11108 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "BAF60C|Rsc6p|CRACD3" "mammalian chromatin remodeling complex BRG1-associated factor 60C|Swp73-like protein|SWI/SNF complex 60 kDa subunit C|60kDa BRG-1/Brm associated factor subunit c" "BAF complex|PBAF complex|GBAF complex" "1604|1605|1606" 1998-05-15 2016-10-05 6604 ENSG00000082014 OTTHUMG00000157431 uc003wjs.4 U66619 NM_001003801 "CCDS34780|CCDS5924" Q6STE5 "8804307|9693044" MGI:1914243 RGD:1311869 601737 HGNC:11108 "ENST00000262188.13|NM_001003801.2" +HGNC:11109 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 BAF57 "BAF complex|PBAF complex" "1604|1605" 1998-05-15 2014-11-19 6605 ENSG00000073584 OTTHUMG00000133367 uc002hux.4 AF035262 NM_003079 CCDS11370 Q969G3 9435219 MGI:1927347 RGD:1304726 SMARCE1 603111 332111 HGNC:11109 "ENST00000348513.12|NM_003079.5" HGNC:11109 +HGNC:39731 SMARCE1P1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 1 pseudogene pseudogene Approved 11q22.3 11q22.3 2011-03-24 2014-02-12 100271884 ENSG00000225215 OTTHUMG00000152976 NG_011597 HGNC:39731 +HGNC:39732 SMARCE1P2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 2 pseudogene pseudogene Approved 6q14.3 06q14.3 2011-03-24 2014-02-12 442233 ENSG00000226309 OTTHUMG00000015124 NG_011600 HGNC:39732 +HGNC:39733 SMARCE1P3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 3 pseudogene pseudogene Approved 14q11.2 14q11.2 2011-03-24 2014-08-07 401744 ENSG00000259102 OTTHUMG00000170754 NG_011599 PGOHUM00000292578 HGNC:39733 +HGNC:39735 SMARCE1P4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 4 pseudogene pseudogene Approved 8p11.23 08p11.23 2011-03-24 2014-02-12 642879 ENSG00000253650 OTTHUMG00000163983 NG_011598 HGNC:39735 +HGNC:39734 SMARCE1P5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 5 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-03-24 2014-02-12 400129 ENSG00000230793 OTTHUMG00000016836 NG_011330 HGNC:39734 +HGNC:39737 SMARCE1P6 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 6 pseudogene pseudogene Approved 2p23.3 02p23.3 2011-03-24 2011-03-24 2014-02-12 646196 ENSG00000214465 OTTHUMG00000151936 NG_028933 PGOHUM00000240603 HGNC:39737 +HGNC:51208 SMARCE1P7 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 7 pseudogene pseudogene Approved 10q24.31 10q24.31 2014-08-07 2014-08-07 106481716 ENSG00000270973 OTTHUMG00000184685 NG_043348 HGNC:51208 +HGNC:53806 SMBD1P somatomedin B domain containing 1, pseudogene pseudogene pseudogene Approved 3q29 03q29 2018-01-05 2018-01-12 111674481 ENSG00000283426 OTTHUMG00000182568 NG_056137 MGI:2685779 HGNC:53806 +HGNC:11111 SMC1A structural maintenance of chromosomes 1A protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DXS423E|KIAA0178|SB1.8|Smcb" SMC1L1 "SMC1 (structural maintenance of chromosomes 1, yeast)-like 1|SMC1 structural maintenance of chromosomes 1-like 1 (yeast)" "Structural maintenance of chromosomes proteins|Cohesin complex|MicroRNA protein coding host genes" "761|1060|1691" 2000-08-11 2006-07-06 2006-07-06 2021-05-26 8243 ENSG00000072501 OTTHUMG00000021614 uc004dsg.4 S78271 NM_006306 "CCDS14352|CCDS75985" Q14683 "7757074|17273969" MGI:1344345 RGD:61991 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMC1A|LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=SMC1A|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMC1A|LRG_773|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_773.xml" 300040 119743 HGNC:11111 "ENST00000322213.9|NM_006306.4" HGNC:11111 +HGNC:11112 SMC1B structural maintenance of chromosomes 1B protein-coding gene gene with protein product Approved 22q13.31 22q13.31 bK268H5 SMC1L2 "SMC1 (structural maintenance of chromosomes 1, yeast)-like 1|SMC1 structural maintenance of chromosomes 1-like 2 (yeast)" "Structural maintenance of chromosomes proteins|Cohesin complex" "761|1060" 2000-01-12 2006-07-06 2006-07-06 2016-10-05 27127 ENSG00000077935 OTTHUMG00000151334 uc003bgc.4 AJ504806 NM_148674 "CCDS43027|CCDS74876" Q8NDV3 "10591208|11564881" MGI:2154049 RGD:1308791 608685 HGNC:11112 "ENST00000357450.9|NM_148674.5" +HGNC:14011 SMC2 structural maintenance of chromosomes 2 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "hCAP-E|CAP-E" SMC2L1 "SMC2 (structural maintenance of chromosomes 2, yeast)-like 1|SMC2 structural maintenance of chromosomes 2-like 1 (yeast)" "Structural maintenance of chromosomes proteins|Condensin I subunits|Condensin II subunits" "761|1452|1453" 2001-02-22 2006-07-06 2006-07-06 2014-11-18 10592 ENSG00000136824 OTTHUMG00000020401 uc011lvl.3 AF092563 NM_001042550 CCDS35086 O95347 9789013 MGI:106067 RGD:1305227 605576 HGNC:14011 "ENST00000374793.8|NM_006444.3" +HGNC:50827 SMC2-DT SMC2 divergent transcript non-coding RNA RNA, long non-coding Approved 9q31.1 09q31.1 SMC2-AS1 SMC2 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-06-25 2020-09-29 2020-09-29 2020-09-29 101928550 ENSG00000270332 OTTHUMG00000185235 NR_121580 SMC2-AS1 HGNC:50827 +HGNC:2468 SMC3 structural maintenance of chromosomes 3 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "HCAP|BAM|SMC3L1|bamacan" bamacan proteoglycan CSPG6 chondroitin sulfate proteoglycan 6 (bamacan) "Proteoglycans|Structural maintenance of chromosomes proteins|Cohesin complex" "570|761|1060" 1999-08-20 2006-07-06 2006-07-06 2021-05-26 9126 ENSG00000108055 OTTHUMG00000019042 uc001kze.4 AF020043 NM_005445 CCDS31285 Q9UQE7 "9506951|10358101|17273969" MGI:1339795 RGD:62006 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMC3|LRG_774|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_774.xml" 606062 138480 HGNC:2468 "ENST00000361804.5|NM_005445.4" HGNC:2468 +HGNC:54642 SMC3P1 SMC3 pseudogene 1 pseudogene pseudogene Approved 2q11.2 02q11.2 2019-10-31 2019-10-31 550644 ENSG00000231822 NG_005084 +HGNC:14013 SMC4 structural maintenance of chromosomes 4 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "hCAP-C|CAP-C" SMC4L1 "SMC4 (structural maintenance of chromosomes 4, yeast)-like 1|SMC4 structural maintenance of chromosomes 4-like 1 (yeast)" "Structural maintenance of chromosomes proteins|Condensin I subunits|Condensin II subunits|MicroRNA protein coding host genes" "761|1452|1453|1691" 2001-02-22 2006-07-06 2006-07-06 2016-10-05 10051 ENSG00000113810 OTTHUMG00000159006 uc003fdh.5 AF092564 NM_001002800 "CCDS3189|CCDS75046" Q9NTJ3 "9789013|10319587" MGI:1917349 RGD:1306680 605575 HGNC:14013 "ENST00000357388.8|NM_001002800.3" +HGNC:51919 SMC4P1 structural maintenance of chromosomes 4 pseudogene 1 pseudogene pseudogene Approved 2q22.1 02q22.1 2015-10-06 2015-10-06 100421125 ENSG00000229568 OTTHUMG00000153586 NG_023732 PGOHUM00000298738 HGNC:51919 +HGNC:20465 SMC5 structural maintenance of chromosomes 5 protein-coding gene gene with protein product Approved 9q21.12 09q21.12 KIAA0594 SMC5L1 SMC5 structural maintenance of chromosomes 5-like 1 (yeast) "Structural maintenance of chromosomes proteins|SMC5-6 protein complex" "761|1034" 2003-02-17 2006-07-06 2006-07-06 2016-10-05 23137 ENSG00000198887 OTTHUMG00000019992 uc004ahr.3 AB011166 NM_015110 CCDS6632 Q8IY18 9628581 MGI:2385088 RGD:1307492 609386 HGNC:20465 "ENST00000361138.7|NM_015110.4" +HGNC:48718 SMC5-DT SMC5 divergent transcript non-coding RNA RNA, long non-coding Approved 9q21.12 09q21.12 MAMDC2-AS2 SMC5-AS1 SMC5 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-06-07 2020-10-09 2020-10-09 2020-10-09 100507299 ENSG00000268364 OTTHUMG00000182521 NR_039990 SMC5-AS1 HGNC:48718 +HGNC:20466 SMC6 structural maintenance of chromosomes 6 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 FLJ22116 SMC6L1 SMC6 structural maintenance of chromosomes 6-like 1 (yeast) "Structural maintenance of chromosomes proteins|SMC5-6 protein complex" "761|1034" 2003-02-17 2006-07-06 2006-07-06 2016-10-05 79677 ENSG00000163029 OTTHUMG00000090675 uc010exo.4 AJ310551 NM_024624 CCDS1690 Q96SB8 11230166 MGI:1914491 RGD:1311214 609387 HGNC:20466 "ENST00000448223.7|NM_001142286.2" +HGNC:29090 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "KIAA0650|FSHD2" 2005-03-22 2021-05-26 23347 ENSG00000101596 OTTHUMG00000178235 uc002klm.5 AB014550 NM_015295 CCDS45822 A6NHR9 "18425126|24075187" MGI:1921605 RGD:1307234 614982 320176 HGNC:29090 "ENST00000320876.11|NM_015295.3" HGNC:29090 +HGNC:27407 SMCO1 single-pass membrane protein with coiled-coil domains 1 protein-coding gene gene with protein product Approved 3q29 03q29 "FLJ41923|DKFZp313B0440" C3orf43 chromosome 3 open reading frame 43 2006-01-12 2013-03-08 2016-02-05 2018-04-09 255798 ENSG00000214097 OTTHUMG00000155581 uc003fws.4 AK123917 NM_001320473 CCDS43192 Q147U7 MGI:1916826 RGD:1562500 HGNC:27407 "ENST00000397537.3|NM_001077657.3" +HGNC:34448 SMCO2 single-pass membrane protein with coiled-coil domains 2 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 LOC341346 C12orf70 chromosome 12 open reading frame 70 2008-07-25 2013-03-11 2016-02-05 2016-02-05 341346 ENSG00000165935 OTTHUMG00000169205 uc010sjq.2 NM_001145010 CCDS44852 A6NFE2 MGI:1916621 RGD:2320294 HGNC:34448 +HGNC:34401 SMCO3 single-pass membrane protein with coiled-coil domains 3 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 LOC440087 C12orf69 chromosome 12 open reading frame 69 2008-07-25 2013-03-11 2016-02-05 2016-02-05 440087 ENSG00000179256 OTTHUMG00000167474 uc001rck.1 NM_001013698 CCDS41759 A2RU48 MGI:2443451 RGD:1560652 HGNC:34401 "ENST00000316048.2|NM_001013698.2" +HGNC:24810 SMCO4 single-pass membrane protein with coiled-coil domains 4 protein-coding gene gene with protein product Approved 11q21 11q21 FN5 C11orf75 chromosome 11 open reading frame 75 2006-03-16 2013-03-11 2016-02-05 2016-02-05 56935 ENSG00000166002 OTTHUMG00000167442 uc001pds.5 BC031564 NM_020179 CCDS8292 Q9NRQ5 10863097 MGI:3039636 RGD:1309410 609477 HGNC:24810 "ENST00000298966.7|NM_020179.3" +HGNC:49559 SMCO4P1 single-pass membrane protein with coiled-coil domains 4 pseudogene 1 pseudogene pseudogene Approved 17q21.31 17q21.31 2014-01-14 2016-02-05 2016-02-05 728675 ENSG00000267384 OTTHUMG00000181820 NG_029317 HGNC:49559 +HGNC:6962 SMCP sperm mitochondria associated cysteine rich protein protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MCSP "mitochondrial capsule selenoprotein|sperm mitochondria-associated cysteine-rich protein" 1995-11-21 2005-10-06 2016-01-25 2016-01-25 4184 ENSG00000163206 OTTHUMG00000012452 uc001fat.4 BC014593 NM_030663 CCDS1029 P49901 8833144 MGI:96945 RGD:3069 601148 HGNC:6962 "ENST00000368765.4|NM_030663.3" +HGNC:17914 SMCR2 Smith-Magenis syndrome chromosome region, candidate 2 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 "Smith-Magenis syndrome chromosome region, candidate 2|Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-01-09 2018-05-16 2020-04-20 105371564 ENSG00000223979 OTTHUMG00000059291 uc060bxl.1 AI821758 NR_131243 11997338 SMCR2 HGNC:17914 +HGNC:17918 SMCR5 Smith-Magenis syndrome chromosome region, candidate 5 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 NCRNA00034 non-protein coding RNA 34 "Smith-Magenis syndrome chromosome region, candidate 5|Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-01-09 2018-05-16 2018-05-16 140771 ENSG00000226746 OTTHUMG00000178769 uc010cpo.2 NR_024007 Q8TEV8 11997338 SMCR5 HGNC:17918 +HGNC:17921 SMCR8 SMCR8-C9orf72 complex subunit protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "FLJ34716|DENND8A" Smith-Magenis syndrome chromosome region, candidate 8 "DENN domain containing|SWC tripartite complex" "504|1695" 2002-01-09 2019-01-11 2019-06-06 140775 ENSG00000176994 OTTHUMG00000059394 uc002gsy.5 AF467440 NM_144775 CCDS11195 Q8TEV9 "11997338|23248642|27103069" MGI:2444720 RGD:1564621 617074 HGNC:17921 "ENST00000406438.5|NM_144775.3" +HGNC:25055 SMDT1 single-pass membrane protein with aspartate rich tail 1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "dJ186O1.1|DDDD|EMRE" essential MCU regulator C22orf32 chromosome 22 open reading frame 32 2006-07-06 2013-03-08 2016-06-06 2016-06-06 91689 ENSG00000183172 OTTHUMG00000151286 uc003bca.4 BC024237 NM_033318 CCDS14031 Q9H4I9 24231807 MGI:1916279 RGD:1311310 615588 HGNC:25055 "ENST00000331479.4|NM_033318.5" +HGNC:30045 SMG1 SMG1 nonsense mediated mRNA decay associated PI3K related kinase protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "LIP|KIAA0421|ATX" phosphatidylinositol 3-kinase-related kinase "smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)|SMG1 phosphatidylinositol 3-kinase-related kinase|SMG1, nonsense mediated mRNA decay associated PI3K related kinase" "Armadillo like helical domain containing|SMG1 complex|DECID complex" "1492|1962|1964" 2008-12-18 2019-01-25 2019-01-25 23049 ENSG00000157106 OTTHUMG00000166900 uc002dfm.4 AB061371 NM_015092 CCDS45430 Q96Q15 "9455477|11331269|17229728" MGI:1919742 RGD:1563508 607032 objectId:2201 2.7.11.1 HGNC:30045 "ENST00000446231.7|NM_015092.5" +HGNC:55394 SMG1-DT SMG1 divergent transcript non-coding RNA RNA, long non-coding Approved 16p12.3 16p12.3 Divergent transcripts 1990 2020-12-21 2020-12-21 107984844 ENSG00000260352 XR_001752094 +HGNC:44186 SMG1P1 SMG1 pseudogene 1 pseudogene pseudogene Approved 16p12.2 16p12.2 "smg-1 homolog, phosphatidylinositol 3-kinase-related kinase pseudogene 1|SMG1P1, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 1" 2012-06-30 2017-09-28 2017-09-28 641298 ENSG00000237296 OTTHUMG00000156797 NR_027154 PGOHUM00000267717 HGNC:44186 +HGNC:49859 SMG1P2 SMG1 pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 SMG1P2, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 2 2014-03-18 2017-09-28 2017-09-28 440354 ENSG00000205534 OTTHUMG00000176759 NR_135305 PGOHUM00000267713 HGNC:49859 +HGNC:49860 SMG1P3 SMG1 pseudogene 3 pseudogene pseudogene Approved 16p12.2 16p12.2 SMG1P3, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 3 2014-03-18 2017-09-28 2017-09-28 100271836 ENSG00000180747 OTTHUMG00000164329 NR_027155 PGOHUM00000262279 HGNC:49860 +HGNC:49861 SMG1P4 SMG1 pseudogene 4 pseudogene pseudogene Approved 16p12.2 16p12.2 SMG1P4, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 4 2014-03-18 2017-09-28 2017-09-28 100507526 ENSG00000185710 OTTHUMG00000164330 NG_027945 PGOHUM00000267712 HGNC:49861 +HGNC:49862 SMG1P5 SMG1 pseudogene 5 pseudogene pseudogene Approved 16p11.2 16p11.2 SMG1P5, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 5 2014-03-18 2017-09-28 2017-09-28 595101 ENSG00000183604 OTTHUMG00000166915 NR_002453 PGOHUM00000267714 HGNC:49862 +HGNC:49863 SMG1P6 SMG1 pseudogene 6 pseudogene pseudogene Approved 16p11.2 16p11.2 SMG1P6, nonsense mediated mRNA decay associated PI3K related kinasepseudogene 6 2014-03-18 2017-09-28 2020-04-20 100422558 ENSG00000254634 OTTHUMG00000166914 NR_135312 PGOHUM00000262284 HGNC:49863 +HGNC:49864 SMG1P7 SMG1 pseudogene 7 pseudogene pseudogene Approved 16q22.1 16q22.1 SMG1P7, nonsense mediated mRNA decay associated PI3K related kinase pseudogene 7 2014-03-18 2017-09-28 2017-09-28 100506060 ENSG00000261556 OTTHUMG00000177041 NR_033959 PGOHUM00000262300 HGNC:49864 +HGNC:24644 SMG5 SMG5 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 1q22 01q22 "KIAA1089|LPTS-RP1|LPTSRP1|RP11-54H19.7|SMG-5|EST1B" EST1 telomerase component homolog B (S. cerevisiae) "smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG5, nonsense mediated mRNA decay factor" 2006-02-16 2019-01-25 2019-01-25 23381 ENSG00000198952 OTTHUMG00000017491 uc001foc.5 AB029012 NM_015327 CCDS1137 Q9UPR3 "12676087|12699629" MGI:2447364 RGD:1584731 610962 HGNC:24644 "ENST00000361813.5|NM_015327.3" +HGNC:17809 SMG6 SMG6 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "KIAA0732|SMG-6|EST1A" EST1 telomerase component homolog A (S. cerevisiae) C17orf31 "chromosome 17 open reading frame 31|smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG6 nonsense mediated mRNA decay factor|SMG6, nonsense mediated mRNA decay factor" Endoribonucleases 1687 2001-12-19 2006-02-16 2019-01-25 2019-01-25 23293 ENSG00000070366 OTTHUMG00000177578 uc002fub.2 AB018275 NM_001256827 "CCDS11016|CCDS58498" Q86US8 "12676087|12699629" MGI:2144117 RGD:1595918 610963 HGNC:17809 "ENST00000263073.11|NM_017575.5" +HGNC:1220 SMG6-IT1 SMG6 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 17p13.3 17p13.3 C17orf6 "chromosome 17 open reading frame 6|SMG6 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2000-05-05 2012-08-15 2015-02-25 2016-11-11 53400 ENSG00000278941 OTTHUMG00000177860 uc002fuc.1 AJ276246 +HGNC:16792 SMG7 SMG7 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "KIAA0250|EST1C|SGA56M|SMG-7" EST1 telomerase component homolog C (S. cerevisiae) C1orf16 "chromosome 1 open reading frame 16|smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG7, nonsense mediated mRNA decay factor" 2001-10-08 2006-02-16 2019-01-25 2019-01-25 9887 ENSG00000116698 OTTHUMG00000035221 uc001gqg.4 D87437 NM_014837 "CCDS53444|CCDS1355|CCDS81410|CCDS41445|CCDS53445" Q92540 "14636577|15721257" MGI:2682334 RGD:1310761 610964 HGNC:16792 "ENST00000688051.1|NM_001375584.1" +HGNC:24518 SMG7-AS1 SMG7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q25.3 01q25.3 DKFZP564C196 SMG7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-01 2012-08-15 2014-11-19 284649 ENSG00000232860 OTTHUMG00000035521 uc001gqe.4 BC032873 NR_040063 12477932 SMG7-AS1 HGNC:24518 +HGNC:25551 SMG8 SMG8 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 17q22 17q22 "FLJ10587|FLJ23205" C17orf71 "chromosome 17 open reading frame 71|smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG8, nonsense mediated mRNA decay factor" SMG1 complex 1962 2005-12-19 2011-06-21 2019-01-25 2020-04-01 55181 ENSG00000167447 OTTHUMG00000179365 uc060ibx.1 AL834490 NM_018149 CCDS11615 Q8ND04 19417104 MGI:1921383 RGD:1306862 613175 HGNC:25551 "ENST00000300917.10|NM_018149.7" +HGNC:25763 SMG9 SMG9 nonsense mediated mRNA decay factor protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ12886 C19orf61 "chromosome 19 open reading frame 61|smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)|SMG9, nonsense mediated mRNA decay factor" SMG1 complex 1962 2007-04-12 2011-06-21 2019-01-25 2021-05-26 56006 ENSG00000105771 OTTHUMG00000150337 uc002oxj.3 BC008869 NM_019108 CCDS33043 Q9H0W8 "11230166|19417104" MGI:1919247 RGD:1309888 613176 471118 HGNC:25763 "ENST00000270066.11|NM_019108.4" HGNC:25763 +HGNC:51825 SMILR smooth muscle induced lncRNA, enhancer of proliferation non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 smooth muscle-induced lncRNA enhances replication Long non-coding RNAs with non-systematic symbols 1992 2016-11-30 2019-08-08 105375734 ENSG00000255364 OTTHUMG00000165130 NR_131202 "27052414|31339449" HGNC:51825 +HGNC:44204 SMIM1 small integral membrane protein 1 (Vel blood group) protein-coding gene gene with protein product Approved 1p36.32 01p36.32 Vel small integral membrane protein 1 Blood group antigens 454 2012-07-05 2014-01-02 2021-04-13 388588 ENSG00000235169 OTTHUMG00000003505 uc001akw.6 NM_001163724 CCDS57966 B2RUZ4 "23505126|23563606|23563608" MGI:1916109 RGD:1564257 LRG_827|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_827.xml 615242 HGNC:44204 "ENST00000642557.4|NM_001288583.2" +HGNC:28776 SMIM2 small integral membrane protein 2 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 MGC5590 C13orf44 chromosome 13 open reading frame 44 2011-08-15 2012-07-11 2012-07-11 2014-11-18 79024 ENSG00000139656 OTTHUMG00000016831 uc001uzh.3 BC000868 NM_024058 CCDS61320 Q9BVW6 12477932 RGD:9251176 HGNC:28776 "ENST00000400419.2|NM_024058.3" +HGNC:42674 SMIM2-AS1 SMIM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 C13orf44-AS1 "C13orf44 antisense RNA 1 (non-protein coding)|SMIM2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2011-08-15 2012-07-11 2012-08-15 2020-04-20 101929212 ENSG00000227258 OTTHUMG00000016829 uc058wsl.1 NR_104064 SMIM2-AS1 HGNC:42674 +HGNC:41492 SMIM2-IT1 SMIM2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 C13orf44-IT1 "C13orf44 intronic transcript 1 (non-protein coding)|SMIM2 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2011-08-15 2012-07-11 2015-02-25 2015-02-25 100874377 ENSG00000235285 OTTHUMG00000016830 uc031qlj.1 AI476676 NR_046843 SMIM2-IT1 HGNC:41492 +HGNC:30248 SMIM3 small integral membrane protein 3 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "MSTP150|NID67" C5orf62 chromosome 5 open reading frame 62 2009-10-02 2012-10-01 2012-10-01 2016-04-25 85027 ENSG00000256235 OTTHUMG00000163646 uc003lsw.4 AF313413 NM_032947 CCDS47312 Q9BZL3 11288140 MGI:1917088 RGD:628864 608324 HGNC:30248 "ENST00000526627.2|NM_032947.5" +HGNC:37257 SMIM4 small integral membrane protein 4 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 C3orf78 chromosome 3 open reading frame 78 2010-06-04 2012-10-08 2012-10-08 2022-01-07 440957 ENSG00000168273 OTTHUMG00000158726 uc003dep.3 AK095910 NM_001124767 CCDS46844 Q8WVI0 34969438 MGI:1913737 RGD:1307583 HGNC:37257 "ENST00000477703.6|NM_001124767.2" +HGNC:40030 SMIM5 small integral membrane protein 5 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 C17orf109 chromosome 17 open reading frame 109 2011-05-13 2012-10-23 2012-10-23 2014-01-02 643008 ENSG00000204323 OTTHUMG00000167882 uc002jow.3 NM_001162995 CCDS54165 Q71RC9 24318988 MGI:1913778 RGD:1586374 HGNC:40030 "ENST00000375215.3|NM_001162995.3" +HGNC:40032 SMIM6 small integral membrane protein 6 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 ELN endoregulin C17orf110 chromosome 17 open reading frame 110 2011-06-21 2012-10-23 2012-10-23 2018-02-22 100130933 ENSG00000259120 OTTHUMG00000179796 uc060kah.1 NM_001162997 CCDS54166 P0DI80 MGI:1915778 RGD:7720946 HGNC:40032 "ENST00000579469.2|NM_001162997.2" +HGNC:28419 SMIM7 small integral membrane protein 7 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 MGC2747 C19orf42 chromosome 19 open reading frame 42 2006-04-04 2012-10-26 2012-10-26 2015-08-26 79086 ENSG00000214046 OTTHUMG00000149895 uc002ner.4 AK025602 NM_024104 "CCDS12348|CCDS74307" Q9BQ49 12477932 MGI:1914068 RGD:1588793 HGNC:28419 "ENST00000487416.7|NM_024104.4" +HGNC:54700 SMIM7P1 SMIM7 pseudogene 1 pseudogene pseudogene Approved 2p22.3 02p22.3 2019-11-28 2019-11-28 100130842 ENSG00000196085 NG_030137 +HGNC:21401 SMIM8 small integral membrane protein 8 protein-coding gene gene with protein product Approved 6q15 06q15 "DKFZP586E1923|dJ102H19.2" C6orf162 chromosome 6 open reading frame 162 2003-06-12 2012-11-20 2012-11-20 2018-02-12 57150 ENSG00000111850 OTTHUMG00000015168 uc003plp.2 AL050201 NM_020425 "CCDS34496|CCDS75493" Q96KF7 MGI:1913541 RGD:1305158 HGNC:21401 "ENST00000392863.6|NM_001042493.3" +HGNC:41915 SMIM9 small integral membrane protein 9 protein-coding gene gene with protein product Approved Xq28 Xq28 CXorf68 chromosome X open reading frame 68 2011-08-04 2012-11-29 2012-11-29 2012-11-29 100132963 ENSG00000203870 OTTHUMG00000024243 uc065cja.1 NM_001162936 CCDS55546 A6NGZ8 MGI:3588243 HGNC:41915 "ENST00000369529.2|NM_001162936.4" +HGNC:41913 SMIM10 small integral membrane protein 10 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 CXorf69 chromosome X open reading frame 69 2011-08-15 2012-11-29 2012-11-29 2015-09-08 644538 ENSG00000184785 OTTHUMG00000187484 uc011mvs.2 NM_001163438 CCDS55502 Q96HG1 MGI:1914379 RGD:1585506 HGNC:41913 "ENST00000330288.6|NM_001163438.2" +HGNC:49847 SMIM10L1 small integral membrane protein 10 like 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 2015-03-06 2015-03-06 2015-03-06 100129361 ENSG00000256537 OTTHUMG00000168565 NM_001271592 CCDS81667 P0DMW3 MGI:1914379 RGD:2322729 PGOHUM00000262876 HGNC:49847 "ENST00000622602.2|NM_001271592.2" +HGNC:34499 SMIM10L2A small integral membrane protein 10 like 2A protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "MGC39606|LED|LINC0086" lncRNA activator of enhancer domains "NCRNA00086|LINC00086" "non-protein coding RNA 86|long intergenic non-protein coding RNA 86" 2008-09-02 2015-03-06 2015-03-06 2017-03-01 399668 ENSG00000178947 OTTHUMG00000022479 "BC030620|BC051704" NM_203306 P0DMW4 25813522 MGI:2443645 HGNC:34499 "ENST00000417443.3|NM_203306.3" +HGNC:34500 SMIM10L2B small integral membrane protein 10 like 2B protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 RP11-85L21.2 "NCRNA00087|LINC00087" "non-protein coding RNA 87|long intergenic non-protein coding RNA 87" 2008-09-03 2015-03-06 2015-03-06 2017-01-20 644596 ENSG00000196972 OTTHUMG00000022468 NM_001348255 CCDS87780 P0DMW5 MGI:2443645 HGNC:34500 "ENST00000433425.4|NM_001348255.2" +HGNC:53137 SMIM10L2B-AS1 SMIM10L2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq26.3 Xq26.3 ENST00000453528 Antisense RNAs 1987 2017-02-16 2017-02-16 100287728 ENSG00000228372 OTTHUMG00000022470 NR_103770 27816668 HGNC:53137 +HGNC:1293 SMIM11 small integral membrane protein 11 protein-coding gene gene with protein product Approved 21q22.11-q22.12 21q22.11-q22.12 "C21orf51|FAM165B|SMIM11A" "chromosome 21 open reading frame 51|family with sequence similarity 165, member B|small integral membrane protein 11A" 2000-05-23 2021-06-18 2021-06-18 2021-06-18 54065 ENSG00000205670 OTTHUMG00000086193 BC015596 NM_058182 CCDS33550 P58511 MGI:1916186 RGD:2299853 HGNC:1293 "ENST00000399292.8|NM_058182.5" +HGNC:21400 SMIM11P1 small integral membrane protein 11 pseudogene 1 pseudogene pseudogene Approved 6q14.3 06q14.3 bA33E24.4 "C6orf161|FAM165A" "chromosome 6 open reading frame 161|family with sequence similarity 165, member A" 2003-11-26 2012-12-03 2012-12-03 2020-04-20 100127905 ENSG00000198738 OTTHUMG00000015146 NG_012759 HGNC:21400 +HGNC:25154 SMIM12 small integral membrane protein 12 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 FLJ90372 C1orf212 chromosome 1 open reading frame 212 2006-08-17 2012-12-03 2012-12-03 2015-08-26 113444 ENSG00000163866 OTTHUMG00000004375 uc001byb.4 NM_138428 CCDS53295 Q96EX1 12477932 MGI:1933141 RGD:1591379 HGNC:25154 "ENST00000521580.3|NM_138428.6" +HGNC:51598 SMIM12P1 small integral membrane protein 12 pseudogene 1 pseudogene pseudogene Approved 2q12.3 02q12.3 2015-03-12 2015-03-17 100288503 ENSG00000271284 OTTHUMG00000184263 NG_012910 PGOHUM00000298618 HGNC:51598 +HGNC:27356 SMIM13 small integral membrane protein 13 protein-coding gene gene with protein product Approved 6p24.2 06p24.2 C6orf228 chromosome 6 open reading frame 228 2011-09-27 2012-12-03 2012-12-03 2012-12-03 221710 ENSG00000224531 OTTHUMG00000014253 uc011dio.3 NM_001135575 CCDS56396 P0DJ93 MGI:2652854 RGD:1591023 HGNC:27356 "ENST00000416247.4|NM_001135575.2" +HGNC:27321 SMIM14 small integral membrane protein 14 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ13289 C4orf34 chromosome 4 open reading frame 34 2006-08-21 2012-12-03 2012-12-03 2014-11-18 201895 ENSG00000163683 OTTHUMG00000128581 uc003guo.4 BC008502 NM_174921 CCDS3456 Q96QK8 "15231747|24499674|23759569" MGI:1915802 RGD:1311122 HGNC:27321 "ENST00000295958.10|NM_174921.3" +HGNC:53455 SMIM14-DT SMIM14 divergent transcript non-coding RNA RNA, long non-coding Approved 4p14 04p14 Divergent transcripts 1990 2021-03-15 2021-03-15 105374419 ENSG00000255458 OTTHUMG00000166290 XR_007058102 +HGNC:33861 SMIM15 small integral membrane protein 15 protein-coding gene gene with protein product Approved 5q12.1 05q12.1 DKFZP686E2158 C5orf43 chromosome 5 open reading frame 43 2008-06-13 2012-12-03 2012-12-03 2016-10-05 643155 ENSG00000188725 OTTHUMG00000162241 uc010iwm.2 NM_001048249 CCDS34165 Q7Z3B0 MGI:1922866 RGD:2324600 HGNC:33861 "ENST00000339020.8|NM_001048249.4" +HGNC:41293 SMIM15-AS1 SMIM15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q12.1 05q12.1 Antisense RNAs 1987 2016-12-16 2016-12-16 101928630 ENSG00000251279 OTTHUMG00000162242 NR_109908 HGNC:41293 +HGNC:54940 SMIM15P1 SMIM15 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-04-30 2020-04-30 107985631 ENSG00000270280 +HGNC:54941 SMIM15P2 SMIM15 pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 2020-04-30 2020-04-30 117751734 ENSG00000270326 NG_078878 +HGNC:27114 SMIM17 small integral membrane protein 17 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 2012-12-11 2015-09-02 147670 ENSG00000268182 OTTHUMG00000177861 uc021vch.2 AK095199 NM_001193628 CCDS58683 P0DL12 MGI:4365374 RGD:1559613 HGNC:27114 "ENST00000598409.6|NM_001193628.2" +HGNC:42973 SMIM18 small integral membrane protein 18 protein-coding gene gene with protein product Approved 8p12 08p12 2012-12-12 2015-08-26 100507341 ENSG00000253457 OTTHUMG00000163839 uc022atn.2 NM_001206847 CCDS56529 P0DKX4 MGI:1919882 RGD:6501537 HGNC:42973 "ENST00000517349.2|NM_001206847.2" +HGNC:25166 SMIM19 small integral membrane protein 19 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 C8orf40 chromosome 8 open reading frame 40 2005-07-27 2013-03-08 2013-03-08 2014-11-19 114926 ENSG00000176209 OTTHUMG00000157060 uc011lcv.3 BC013035 NM_138436 CCDS6133 Q96E16 12477932 MGI:2142501 RGD:2318364 HGNC:25166 "ENST00000417410.7|NM_001135674.2" +HGNC:37260 SMIM20 small integral membrane protein 20 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "PNX|MITRAC7" phoenixin C4orf52 chromosome 4 open reading frame 52 Mitochondrial respiratory chain complex assembly factors 645 2009-09-15 2013-03-08 2013-03-08 2017-09-12 389203 ENSG00000250317 OTTHUMG00000160330 uc003grw.5 NM_001145432 CCDS47038 Q8N5G0 "28176660|26321642" MGI:1913528 RGD:1565192 617465 HGNC:37260 "ENST00000506197.3|NM_001145432.3" +HGNC:27598 SMIM21 small integral membrane protein 21 protein-coding gene gene with protein product Approved 18q23 18q23 C18orf62 chromosome 18 open reading frame 62 2007-11-19 2013-03-11 2013-03-11 2014-11-19 284274 ENSG00000206026 OTTHUMG00000179126 uc002lma.2 NM_001037331 "CCDS77200|CCDS32845" Q3B7S5 HGNC:27598 "ENST00000579022.5|NM_001037331.3" +HGNC:48329 SMIM22 small integral membrane protein 22 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 CASIMO1 cancer associated small integral membrane open reading frame 1 2013-06-21 2013-06-21 2018-05-17 440335 ENSG00000267795 OTTHUMG00000177849 NM_001253790 "CCDS59258|CCDS59259" K7EJ46 29765154 MGI:3643379 RGD:1563547 HGNC:48329 "ENST00000586005.6|NM_001253794.2" +HGNC:34440 SMIM23 small integral membrane protein 23 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 LOC644994 C5orf50 chromosome 5 open reading frame 50 2008-07-14 2013-12-13 2013-12-13 2013-12-13 644994 ENSG00000185662 OTTHUMG00000163266 NM_001289970 CCDS87347 A6NLE4 23028347 MGI:1916601 RGD:1306625 HGNC:34440 "ENST00000523047.4|NM_001289970.2" +HGNC:37244 SMIM24 small integral membrane protein 24 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 HSPC323 C19orf77 chromosome 19 open reading frame 77 2009-09-30 2014-02-21 2014-02-21 2014-02-21 284422 ENSG00000095932 OTTHUMG00000180761 AF161441 NM_001136503 CCDS45915 O75264 MGI:1919523 RGD:2324237 HGNC:37244 "ENST00000215531.6|NM_001136503.2" +HGNC:43430 SMIM26 small integral membrane protein 26 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 LOC388789 LINC00493 long intergenic non-protein coding RNA 493 2011-10-20 2017-02-24 2017-02-24 2017-02-24 388789 ENSG00000232388 OTTHUMG00000031978 uc002wrd.5 NM_001348957 "CCDS86937|CCDS86936" A0A096LP01 25392693 MGI:2685407 RGD:1566320 HGNC:43430 "ENST00000411646.2|NM_001348957.2" +HGNC:31420 SMIM27 small integral membrane protein 27 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "C9orf133|TOPORS-AS1" "chromosome 9 open reading frame 133|TOPORS antisense RNA 1 (non-protein coding)|TOPORS antisense RNA 1" 2005-03-22 2017-03-10 2017-03-10 2017-03-10 100129250 ENSG00000235453 OTTHUMG00000019742 uc031tdl.2 NM_001349118 CCDS87647 A0A1B0GUW7 MGI:1913684 HGNC:31420 "ENST00000692500.1|NM_001387564.1" +HGNC:53434 SMIM28 small integral membrane protein 28 protein-coding gene gene with protein product Approved 6q24.1 06q24.1 2017-04-05 2017-04-05 110806279 ENSG00000262543 OTTHUMG00000172823 NM_001368163 A0A1B0GU29 HGNC:53434 "ENST00000573100.2|NM_001368163.3" +HGNC:1340 SMIM29 small integral membrane protein 29 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "LBH|MGC57858" C6orf1 chromosome 6 open reading frame 1 1998-12-01 2017-04-07 2017-04-07 2017-04-07 221491 ENSG00000186577 OTTHUMG00000159754 uc003ojg.5 AY062936 NM_001008703 CCDS4790 Q86T20 10036196 MGI:2146839 RGD:1564450 611419 HGNC:1340 "ENST00000476320.6|NM_001008703.4" +HGNC:48953 SMIM30 small integral membrane protein 30 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 LINC00998 long intergenic non-protein coding RNA 998 2013-07-23 2017-06-23 2017-06-23 2021-10-06 401397 ENSG00000214194 OTTHUMG00000154780 BC107860 NM_001352687 CCDS87543 A4D0T7 27940106 MGI:1913770 LINC00998 HGNC:48953 "ENST00000397764.8|NM_001352688.2" +HGNC:49638 SMIM31 small integral membrane protein 31 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 h.EPR human epithelial cell program regulator LINC01207 long intergenic non-protein coding RNA 1207 2014-01-28 2017-06-23 2017-06-23 2022-03-24 100505989 ENSG00000248771 OTTHUMG00000161261 NM_001352885 CCDS87279 A0A1B0GVY4 MGI:3039572 RGD:6498547 LINC01207 HGNC:49638 "ENST00000507311.1|NM_001352885.1" +HGNC:53640 SMIM32 small integral membrane protein 32 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 2017-08-09 2018-06-15 389332 ENSG00000271824 OTTHUMG00000185564 NM_001350994 CCDS87324 A0A1B0GUA5 MGI:5791459 HGNC:53640 "ENST00000607574.2|NM_001350994.2" +HGNC:53645 SMIM33 small integral membrane protein 33 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 2017-08-10 2017-08-14 111064649 ENSG00000283288 OTTHUMG00000191731 NM_001365197 A0A1B0GW64 MGI:1920699 HGNC:53645 "ENST00000637503.2|NM_001365197.1" +HGNC:39601 SMIM34 small integral membrane protein 34 protein-coding gene gene with protein product Approved 21q22.12 21q22.12 SMIM34A small integral membrane protein 34A 2017-08-11 2021-06-18 2021-06-18 2021-06-18 388820 ENSG00000243627 OTTHUMG00000153030 NM_001367348 A8MWV9 MGI:5826205 RGD:11445134 HGNC:39601 "ENST00000450895.2|NM_001367348.2" +HGNC:44179 SMIM35 small integral membrane protein 35 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 TMPRSS4-AS1 "TMPRSS4 antisense RNA 1 (non-protein coding)|TMPRSS4 antisense RNA 1" 2012-06-30 2017-08-11 2017-08-11 2021-10-06 100526771 ENSG00000255274 OTTHUMG00000166993 uc001pry.1 NM_001354434 A0A1B0GVV1 MGI:3040681 RGD:7587328 TMPRSS4-AS1 HGNC:44179 "ENST00000689828.1|NM_001394165.1" +HGNC:53654 SMIM36 small integral membrane protein 36 protein-coding gene gene with protein product Approved 17q22 17q22 2017-08-16 2017-08-16 101927367 ENSG00000261873 OTTHUMG00000177855 NM_001395421 A0A1B0GVT2 MGI:5804831 +HGNC:54074 SMIM38 small integral membrane protein 38 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 2018-09-28 2020-11-17 107984345 ENSG00000284713 NM_001369201 A0A286YFK9 31537640 MGI:1916283 RGD:628800 HGNC:54074 "ENST00000686237.1|NM_001369201.2" +HGNC:54076 SMIM39 small integral membrane protein 39 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 2018-09-28 2018-10-01 113523639 ENSG00000284479 OTTHUMG00000131657 NM_001395417 A0A1B0GW54 +HGNC:54073 SMIM40 small integral membrane protein 40 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 2018-09-28 2020-06-10 113523636 ENSG00000286920 NM_001369203 Q5STR5 MGI:3054967 HGNC:54073 "ENST00000494082.3|NM_001369203.1" +HGNC:54075 SMIM41 small integral membrane protein 41 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 2018-09-28 2018-09-28 113523638 ENSG00000284791 OTTHUMG00000169615 NM_001369216 A0A2R8YCJ5 MGI:1924967 HGNC:54075 "ENST00000546390.2|NM_001369216.1" +HGNC:55000 SMIM42 small integral membrane protein 42 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 2020-05-19 2020-05-19 117981789 ENSG00000288460 NM_001395415 A0A5F9ZH02 +HGNC:55077 SMIM43 small integral membrane protein 43 protein-coding gene gene with protein product Approved 4q27 04q27 2020-06-17 2020-06-17 132332 ENSG00000164112 NM_001384332 Q4W5P6 "ENST00000643802.2|NM_001384332.1" +HGNC:55815 SMIM44 small integral membrane protein 44 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 2021-07-30 2021-07-30 122152363 ENSG00000284638 A0A286YF18 MGI:6098105 +HGNC:27930 SMIM45 small integral membrane protein 45 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 LINC00634 long intergenic non-protein coding RNA 634 2012-08-07 2021-09-06 2021-09-06 2021-09-06 339674 ENSG00000205704 OTTHUMG00000151274 NM_001395940 A0A590UK83 32583748 MGI:1923755 LINC00634 HGNC:27930 +HGNC:43561 SMKR1 small lysine rich protein 1 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 2012-12-11 2016-06-06 2016-06-06 100287482 ENSG00000240204 OTTHUMG00000157696 uc003voy.3 "BC035417|BC050400" NM_001195243 CCDS59077 H3BMG3 RGD:9298384 HGNC:43561 "ENST00000462322.3|NM_001195243.2" +HGNC:44670 SMLR1 small leucine rich protein 1 protein-coding gene gene with protein product Approved 6q23.1 06q23.1 2012-12-12 2016-06-06 2016-06-06 100507203 ENSG00000256162 OTTHUMG00000176259 uc011ebx.3 AK091900 NM_001195597 CCDS59036 H3BR10 MGI:1922856 RGD:1586664 HGNC:44670 "ENST00000541421.2|NM_001195597.2" +HGNC:11117 SMN1 survival of motor neuron 1, telomeric protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "BCD541|SMNT|SMA1|SMA2|SMA3|GEMIN1|TDRD16A" "gemin-1|tudor domain containing 16A" "SMA@|SMA" spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease) "Tudor domain containing|SMN complex" "780|1500" 1996-12-12 2021-05-26 6606 ENSG00000172062 OTTHUMG00000099361 uc003kak.4 U18423 NM_000344 "CCDS34181|CCDS75256|CCDS34182" Q16637 7813012 MGI:109257 RGD:620755 "SMN1 - Spinal Muscular Atrophy (SMA)|http://www.LOVD.nl/SMN1|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SMN1|ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_676|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_676.xml" 600354 133452 HGNC:11117 "ENST00000380707.9|NM_000344.4" HGNC:11117 +HGNC:11118 SMN2 survival of motor neuron 2, centromeric protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "BCD541|SMNC|GEMIN1|TDRD16B" tudor domain containing 16B "Tudor domain containing|SMN complex" "780|1500" 1996-12-12 2021-05-26 6607 ENSG00000205571 OTTHUMG00000099389 uc003jyd.4 NM_017411 "CCDS4007|CCDS4008|CCDS54867" Q16637 7813012 MGI:109257 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_677|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_677.xml" 601627 119750 HGNC:11118 "ENST00000380743.9|NM_017411.4" +HGNC:16900 SMNDC1 survival motor neuron domain containing 1 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "SPF30|SMNR|TDRD16C" "splicing factor 30, survival of motor neuron-related|tudor domain containing 16C" "Tudor domain containing|Spliceosomal A complex" "780|1504" 2003-11-06 2016-10-05 10285 ENSG00000119953 OTTHUMG00000019036 uc001kzc.5 AF083385 NM_005871 CCDS7565 O75940 "9731529|9817934" MGI:1923729 RGD:1309151 603519 HGNC:16900 "ENST00000369603.10|NM_005871.4" +HGNC:11119 SMO smoothened, frizzled class receptor protein-coding gene gene with protein product Approved 7q32.1 07q32.1 FZD11 frizzled family member 11 SMOH "smoothened (Drosophila) homolog|smoothened homolog (Drosophila)|smoothened, seven transmembrane spanning receptor|smoothened, frizzled family receptor" G protein-coupled receptors, Class F frizzled 286 1996-12-18 2003-01-17 2014-01-29 2021-04-13 6608 ENSG00000128602 OTTHUMG00000158421 uc003vor.4 U84401 NM_005631 CCDS5811 Q99835 9628830 MGI:108075 RGD:3726 LRG_1393|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1393.xml SMO 601500 461367 objectId:239 HGNC:11119 "ENST00000249373.8|NM_005631.5" HGNC:11119 +HGNC:20318 SMOC1 SPARC related modular calcium binding 1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 SPARC family 1278 2003-01-24 2021-05-26 64093 ENSG00000198732 OTTHUMG00000171237 uc001xls.3 AJ249900 NM_001034852 "CCDS9798|CCDS32110" Q9H4F8 12130637 MGI:1929878 RGD:1303126 608488 258631 HGNC:20318 "ENST00000361956.8|NM_001034852.3" HGNC:20318 +HGNC:20323 SMOC2 SPARC related modular calcium binding 2 protein-coding gene gene with protein product Approved 6q27 06q27 SMAP2 SPARC family 1278 2003-01-24 2021-05-26 64094 ENSG00000112562 OTTHUMG00000016050 uc003qwr.2 AB014730 NM_001166412 "CCDS5307|CCDS55076" Q9H3U7 12031507 MGI:1929881 RGD:1306681 607223 303024 HGNC:20323 "ENST00000356284.7|NM_001166412.2" HGNC:20323 +HGNC:15862 SMOX spermine oxidase protein-coding gene gene with protein product Approved 20p13 20p13 "FLJ20746|dJ779E11.1|PAO|PAOh1|MGC1010|SMO" C20orf16 chromosome 20 open reading frame 16 2001-06-21 2003-10-15 2003-10-15 2015-12-17 54498 ENSG00000088826 OTTHUMG00000031777 uc002wkm.2 AK000753 NM_175842 "CCDS13077|CCDS13075|CCDS13078|CCDS13076|CCDS74702" Q9NWM0 "11454677|12398765" MGI:2445356 RGD:1306049 615854 1.5.3.16 HGNC:15862 "ENST00000305958.9|NM_175839.3" +HGNC:11120 SMPD1 sphingomyelin phosphodiesterase 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 ASM "acid sphingomyelinase|Niemann-Pick type A/B" sphingomyelin phosphodiesterase 1, acid lysosomal 1986-01-01 2015-12-10 2021-05-26 6609 ENSG00000166311 OTTHUMG00000165453 uc009yew.4 AB209775 NM_000543 "CCDS44531|CCDS31409" P17405 1711683 MGI:98325 RGD:1549719 607608 119754 objectId:2514 3.1.4.12 HGNC:11120 "ENST00000342245.9|NM_000543.5" HGNC:11120 +HGNC:11121 SMPD2 sphingomyelin phosphodiesterase 2 protein-coding gene gene with protein product Approved 6q21 06q21 "nSMase|ISC1" neutral sphingomyelinase sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 1998-06-22 2015-12-10 2015-12-10 6610 ENSG00000135587 OTTHUMG00000015348 uc003pti.4 AJ222801 NM_003080 CCDS5075 O60906 9520418 MGI:1278330 RGD:619753 603498 objectId:2515 3.1.4.12 HGNC:11121 "ENST00000258052.8|NM_003080.3" +HGNC:14240 SMPD3 sphingomyelin phosphodiesterase 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 NSMASE2 neutral sphingomyelinase II sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 2000-12-12 2015-12-10 2015-12-10 55512 ENSG00000103056 OTTHUMG00000137559 uc002ewa.4 AJ250460 NM_018667 CCDS10867 Q9NY59 10823942 MGI:1927578 RGD:619754 605777 objectId:2516 HGNC:14240 "ENST00000219334.10|NM_018667.4" +HGNC:32949 SMPD4 sphingomyelin phosphodiesterase 4 protein-coding gene gene with protein product Approved 2q21.1 02q21.1 "FLJ20297|FLJ20756|nSMase-3|KIAA1418|NSMASE3|NET13" neutral sphingomyelinase-3 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 2006-07-12 2015-12-10 2015-12-10 55627 ENSG00000136699 OTTHUMG00000131624 uc002tqq.3 AF052134 NM_017751 "CCDS54398|CCDS2156" Q9NXE4 16517606 MGI:1924876 RGD:1310674 610457 objectId:2517 HGNC:32949 "ENST00000680298.1|NM_017951.5" HGNC:32949 +HGNC:24761 SMPD4BP sphingomyelin phosphodiesterase 4B, pseudogene pseudogene pseudogene Approved 2q21.1 02q21.1 2019-10-11 2019-10-11 150776 ENSG00000152117 NR_026922 HGNC:24761 +HGNC:39673 SMPD4P1 sphingomyelin phosphodiesterase 4 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1 2011-03-22 2015-12-10 2019-10-11 645280 ENSG00000223553 OTTHUMG00000030245 NG_028286 PGOHUM00000246243 HGNC:39673 +HGNC:39674 SMPD4P2 sphingomyelin phosphodiesterase 4 pseudogene 2 pseudogene pseudogene Approved 13q12.11 13q12.11 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 2 2011-03-22 2015-12-10 2019-10-11 441654 ENSG00000229147 OTTHUMG00000016483 NG_011395 PGOHUM00000248303 HGNC:39674 +HGNC:52275 SMPD5 sphingomyelin phosphodiesterase 5 (pseudogene) pseudogene pseudogene Approved 8q24.3 08q24.3 MA-nSMase mitochondria-associated nSMase "sphingomyelin phosphodiesterase 5|sphingomyelin phosphodiesterase 5, pseudogene" 2015-12-10 2020-06-15 2020-06-15 392275 ENSG00000204791 OTTHUMG00000165434 NR_158554 23579449 MGI:3709877 RGD:2323312 PGOHUM00000303698 HGNC:52275 +HGNC:17389 SMPDL3A sphingomyelin phosphodiesterase acid like 3A protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "FLJ20177|ASM3A|ASML3a|yR36GH4.1" acid sphingomyelinase-like phosphodiesterase 3a sphingomyelin phosphodiesterase acid-like 3A 2003-11-26 2016-01-25 2016-10-05 10924 ENSG00000172594 OTTHUMG00000015490 uc003pzg.5 AK000184 NM_006714 "CCDS69190|CCDS5128" Q92484 "12442002|25288789" MGI:1931437 RGD:1359277 610728 objectId:2518 HGNC:17389 "ENST00000368440.5|NM_006714.5" +HGNC:21416 SMPDL3B sphingomyelin phosphodiesterase acid like 3B protein-coding gene gene with protein product Approved 1p35.3 01p35.3 ASML3B "sphingomyelin phosphodiesterase, acid-like 3B|sphingomyelin phosphodiesterase acid-like 3B" 2004-04-20 2016-01-25 2016-01-25 27293 ENSG00000130768 OTTHUMG00000003910 uc001bpg.4 Y08134 NM_014474 "CCDS30656|CCDS30655" Q92485 26095358 MGI:1916022 RGD:1307458 617737 objectId:2519 HGNC:21416 "ENST00000373894.8|NM_014474.4" +HGNC:11122 SMPX small muscle protein X-linked protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 "DFNX4|Chisel|Csl" DFN6 deafness, X-linked 6, sensorineural 1999-03-18 2018-04-26 2021-05-26 23676 ENSG00000091482 OTTHUMG00000021235 uc004daa.4 NM_014332 CCDS14200 Q9UHP9 21893181 MGI:1913356 RGD:69233 LRG_1358|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1358.xml 300226 268803 HGNC:11122 "ENST00000379494.4|NM_014332.3" HGNC:11122 +HGNC:19216 SMR3A submaxillary gland androgen regulated protein 3A protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "PBI|PRL5" PROL5 "proline rich 5 (salivary)|submaxillary gland androgen regulated protein 3 homolog A (mouse)" 2002-09-12 2005-02-07 2008-02-27 2014-11-18 26952 ENSG00000109208 OTTHUMG00000160839 uc003hfg.2 D89501 NM_012390 CCDS34000 Q99954 "9354371|17512016" MGI:102763 RGD:1563299 618340 HGNC:19216 "ENST00000226460.5|NM_012390.4" +HGNC:17326 SMR3B submaxillary gland androgen regulated protein 3B protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "P-B|PRL3" PROL3 "proline rich 3|submaxillary gland androgen regulated protein 3 homolog B (mouse)" 2002-01-03 2005-02-07 2008-02-27 2014-11-19 10879 ENSG00000171201 OTTHUMG00000129396 uc062xco.1 D29833 NM_006685 CCDS3540 P02814 "7982889|479131" RGD:3953 611593 HGNC:17326 "ENST00000304915.8|NM_006685.4" +HGNC:11123 SMS spermine synthase protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 "SPMSY|SpS|MRSR" SRS Snyder-Robinson X-linked mental retardation syndrome Seven-beta-strand methyltransferase motif containing 1400 1997-11-07 2020-04-02 6611 ENSG00000102172 OTTHUMG00000021239 uc004dag.5 AD001528 NM_004595 "CCDS59161|CCDS14203" P52788 "7546290|9299240|14508504" MGI:109490 RGD:1564826 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SMS 300105 138543 HGNC:11123 "ENST00000404933.7|NM_004595.5" HGNC:11123 +HGNC:54952 SMSP1 SMS pseudogene 1 pseudogene pseudogene Approved Xp11.23 Xp11.23 2020-05-01 2020-05-01 100419053 ENSG00000224656 NG_026691 +HGNC:11126 SMTN smoothelin protein-coding gene gene with protein product Approved 22q12.2 22q12.2 1997-02-03 2016-10-05 6525 ENSG00000183963 OTTHUMG00000151203 uc011ale.3 AY061972 NM_134270 "CCDS13886|CCDS13887|CCDS74846|CCDS74845|CCDS13888" P53814 "9244445|8707825" MGI:1354727 RGD:1310216 602127 HGNC:11126 "ENST00000333137.12|NM_134269.3" +HGNC:32394 SMTNL1 smoothelin like 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 CHASM calponin homology-associated smooth muscle protein 2006-02-02 2016-06-03 2020-04-01 219537 ENSG00000214872 OTTHUMG00000167046 uc021qjh.1 BX116227 NM_001105565 CCDS44599 A8MU46 15327999 MGI:1915928 RGD:1311701 613664 HGNC:32394 "ENST00000527972.6|NM_001105565.3" +HGNC:24764 SMTNL2 smoothelin like 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 FLJ42461 smoothelin-like 2 2006-04-26 2016-04-04 2016-04-04 342527 ENSG00000188176 OTTHUMG00000132938 uc002fye.3 AK124452 NM_198501 "CCDS45583|CCDS11048" Q2TAL5 MGI:2442764 RGD:1585960 HGNC:24764 "ENST00000389313.9|NM_001114974.2" +HGNC:18247 SMU1 SMU1 DNA replication regulator and spliceosomal factor protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "SMU-1|FLJ10805|BWD|fSAP57" functional spliceosome-associated protein 57 "smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)|DNA replication regulator and spliceosomal factor|SMU1, DNA replication regulator and spliceosomal factor" "WD repeat domain containing|Spliceosomal B complex" "362|1507" 2004-05-17 2019-01-25 2019-01-25 55234 ENSG00000122692 OTTHUMG00000019757 uc003zsf.2 AK001667 NM_018225 CCDS6534 Q2TAY7 "11438655|11410362" MGI:1915546 RGD:620694 617811 HGNC:18247 "ENST00000397149.4|NM_018225.3" +HGNC:54527 SMU1P1 SMU1 pseudogene 1 pseudogene pseudogene Approved 1q23.1 01q23.1 2019-10-11 2019-10-11 246784 ENSG00000237842 NG_001588 HGNC:54527 +HGNC:17148 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "UNG3|FDG|HMUDG" DNA glycosylases 1024 2006-01-06 2014-11-19 23583 ENSG00000123415 OTTHUMG00000160068 uc009znf.3 AF125182 NM_014311 "CCDS8874|CCDS86305|CCDS58239" Q53HV7 "10074426|11526119" MGI:1918976 RGD:631403 607753 HGNC:17148 "ENST00000682136.1|NM_001243787.2" +HGNC:53307 SMUG1-AS1 SMUG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 Antisense RNAs 1987 2017-03-22 2017-03-22 105369776 ENSG00000283073 OTTHUMG00000191576 XR_007063321 HGNC:53307 +HGNC:49401 SMUG1P1 single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1 pseudogene pseudogene Approved 18q21.1 18q21.1 2013-10-28 2014-09-11 100129143 ENSG00000267444 OTTHUMG00000179820 NG_022491 PGOHUM00000235055 HGNC:49401 +HGNC:16807 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 KIAA1625 HECT domain containing 1959 2004-07-29 2016-10-05 57154 ENSG00000198742 OTTHUMG00000150272 uc003upv.3 AB046845 NM_020429 "CCDS34690|CCDS34689" Q9HCE7 10458166 MGI:1923038 RGD:1594738 605568 HGNC:16807 "ENST00000361368.7|NM_181349.3" +HGNC:16809 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 17q23.3-q24.1 17q23.3-q24.1 "C2 domain containing|HECT domain containing" "823|1959" 2004-07-29 2018-02-13 64750 ENSG00000108854 OTTHUMG00000179189 uc002jep.2 AF301463 NM_022739 CCDS32707 Q9HAU4 11016919 MGI:1913563 RGD:1310067 605532 HGNC:16809 "ENST00000262435.14|NM_022739.4" +HGNC:44402 SMURF2P1 SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 2012-10-05 2014-10-06 107133516 ENSG00000248121 OTTHUMG00000132798 NG_046673 PGOHUM00000294381 HGNC:44402 +HGNC:20986 SMYD1 SET and MYND domain containing 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "BOP|ZMYND22|KMT3D" "Zinc fingers MYND-type|Lysine methyltransferases|SET domain containing" "87|487|1399" 2003-04-29 2018-11-19 150572 ENSG00000115593 OTTHUMG00000155045 uc002ssr.4 AF086123 NM_001330364 "CCDS82480|CCDS33240" Q8NB12 11923873 MGI:104790 RGD:1305105 606846 HGNC:20986 "ENST00000419482.7|NM_198274.4" HGNC:20986 +HGNC:20982 SMYD2 SET and MYND domain containing 2 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 "HSKM-B|ZMYND14|KMT3C" "Zinc fingers MYND-type|Lysine methyltransferases|SET domain containing" "87|487|1399" 2003-04-28 2014-11-19 56950 ENSG00000143499 OTTHUMG00000037066 uc057pjy.1 AF226053 NM_020197 CCDS31022 Q9NRG4 MGI:1915889 RGD:727785 610663 objectId:2714 HGNC:20982 "ENST00000366957.10|NM_020197.3" +HGNC:15513 SMYD3 SET and MYND domain containing 3 protein-coding gene gene with protein product Approved 1q44 01q44 KMT3E "ZNFN3A1|ZMYND1" zinc finger, MYND domain containing 1 "Zinc fingers MYND-type|Lysine methyltransferases|SET domain containing" "87|487|1399" 2001-04-06 2003-05-16 2003-05-14 2014-11-19 64754 ENSG00000185420 OTTHUMG00000040508 uc001ibl.4 AK023594 NM_022743 "CCDS53486|CCDS31083" Q9H7B4 MGI:1916976 RGD:1562635 608783 HGNC:15513 "ENST00000490107.6|NM_001167740.2" +HGNC:40708 SMYD3-AS1 SMYD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q44 01q44 Antisense RNAs 1987 2020-03-27 2020-03-27 101928089 ENSG00000226876 OTTHUMG00000040511 XR_007067000 +HGNC:41406 SMYD3-IT1 SMYD3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q44 01q44 SMYD3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-08-23 2015-02-25 2015-02-25 106478975 ENSG00000230184 OTTHUMG00000040509 uc057qys.1 SMYD3-IT1 +HGNC:21067 SMYD4 SET and MYND domain containing 4 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "KIAA1936|ZMYND21" "Zinc fingers MYND-type|SET domain containing" "87|1399" 2004-03-05 2018-11-19 114826 ENSG00000186532 OTTHUMG00000090570 uc002ftm.5 AB067523 NM_052928 CCDS11013 Q8IYR2 11572484 MGI:2442796 RGD:1307369 619134 HGNC:21067 "ENST00000305513.12|NM_052928.3" +HGNC:16258 SMYD5 SMYD family member 5 protein-coding gene gene with protein product Approved 2p13.2 02p13.2 "RRG1|NN8-4AG|ZMYND23" RAI15 retinoic acid induced 15 "Zinc fingers MYND-type|SET domain containing" "87|1399" 2001-07-17 2003-05-16 2003-05-14 2015-04-21 10322 ENSG00000135632 OTTHUMG00000150482 uc002siw.3 U50383 NM_006062 CCDS33221 Q6GMV2 8754834 MGI:108048 RGD:1309153 619114 HGNC:16258 "ENST00000389501.9|NM_006062.3" +HGNC:11128 SNAI1 snail family transcriptional repressor 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "SNA|SLUGH2|SNAH|SNAIL1|SNAIL" "snail 1 (drosophila homolog), zinc finger protein|snail homolog 1 (Drosophila)|snail family zinc finger 1" "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 1998-07-03 2016-05-04 2016-10-05 6615 ENSG00000124216 OTTHUMG00000033048 uc002xuz.4 AF125377 NM_005985 CCDS13423 O95863 10585766 MGI:98330 RGD:620758 604238 HGNC:11128 "ENST00000244050.3|NM_005985.4" +HGNC:11129 SNAI1P1 snail family zinc finger 1 pseudogene 1 pseudogene pseudogene Approved 2q34 02q34 SNAI1L "SNAI1P|SNAI1L1" "snail 1 homolog, zinc finger protein (Drosophila) pseudogene|snail homolog 1 (Drosophila)-like 1|snail homolog 1 (Drosophila) pseudogene 1" 1999-06-18 2010-10-15 2013-05-23 2016-10-05 10415 ENSG00000237194 OTTHUMG00000154657 AF153502 NG_000884 10585766 PGOHUM00000241098 HGNC:11129 +HGNC:11094 SNAI2 snail family transcriptional repressor 2 protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "SLUGH1|SNAIL2|SLUGH" SLUG "slug homolog, zinc finger protein (chicken)|snail homolog 2 (Drosophila)|snail family zinc finger 2" "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 1998-07-03 2002-02-28 2016-05-04 2021-04-13 6591 ENSG00000019549 OTTHUMG00000149912 uc064mrw.1 U97060 NM_003068 CCDS6146 O43623 "9337409|9721220" MGI:1096393 RGD:3722 LRG_1359|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1359.xml 602150 119757 HGNC:11094 "ENST00000020945.4|NM_003068.5" HGNC:11094 +HGNC:18411 SNAI3 snail family transcriptional repressor 3 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "SMUC|Zfp293" ZNF293 "zinc finger protein 293|snail homolog 3 (Drosophila)|snail family zinc finger 3" "Zinc fingers C2H2-type|SNAG transcriptional repressors" "28|1259" 2003-02-28 2016-05-04 2019-04-16 333929 ENSG00000185669 OTTHUMG00000173243 uc002flj.4 BC041461 NM_178310 CCDS32505 Q3KNW1 12579345 MGI:1353563 RGD:1309658 612741 HGNC:18411 "ENST00000332281.6|NM_178310.4" +HGNC:28327 SNAI3-AS1 SNAI3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 MGC23284 Antisense RNAs 1987 2012-11-06 2016-10-05 197187 ENSG00000260630 OTTHUMG00000173242 uc002fli.6 NR_024399 12477932 SNAI3-AS1 HGNC:28327 +HGNC:11131 SNAP23 synaptosome associated protein 23 protein-coding gene gene with protein product Approved 15q15.1-q15.2 15q15.1-q15.2 "SNAP23A|SNAP23B|HsT17016" synaptosomal-associated protein, 23kDa SNAREs 1124 1998-12-17 2016-06-01 2018-02-13 8773 ENSG00000092531 OTTHUMG00000130625 uc001zpz.3 Y09567 NM_003825 "CCDS10087|CCDS10088" O00161 "9070898|8663154" MGI:109356 RGD:620221 602534 HGNC:11131 "ENST00000249647.8|NM_003825.4" +HGNC:16561 SNAP23P1 synaptosome associated protein 23 pseudogene 1 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ155G6.3 SNAP23P synaptosomal-associated protein, 23kDa pseudogene 2001-09-17 2016-06-01 2016-06-01 2016-06-01 101290500 ENSG00000230758 OTTHUMG00000032689 AL121903 NG_033168 PGOHUM00000247557 HGNC:16561 +HGNC:11132 SNAP25 synaptosome associated protein 25 protein-coding gene gene with protein product Approved 20p12.2 20p12.2 "SNAP-25|RIC-4|RIC4|SEC9|bA416N4.2|dJ1068F16.2" resistance to inhibitors of cholinesterase 4 homolog SNAP synaptosomal-associated protein, 25kDa SNAREs 1124 1995-01-24 2016-06-01 2016-10-05 6616 ENSG00000132639 OTTHUMG00000031863 uc002wnr.3 NM_130811 "CCDS13110|CCDS13109" P60880 "8661740|10692432" MGI:98331 RGD:3728 600322 426049 HGNC:11132 "ENST00000254976.7|NM_130811.4" HGNC:11132 +HGNC:44312 SNAP25-AS1 SNAP25 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.2 20p12.2 SNAP25 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-09 2012-08-15 2012-10-12 100131208 ENSG00000227906 OTTHUMG00000031867 uc061vjg.1 "AK124961|BF244758|DA318406" NR_040710 SNAP25-AS1 HGNC:44312 +HGNC:11133 SNAP29 synaptosome associated protein 29 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "SNAP-29|CEDNIK" "soluble 29 kDa NSF attachment protein|cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" synaptosomal-associated protein, 29kDa SNAREs 1124 1998-12-17 2016-06-01 2021-09-08 9342 ENSG00000099940 OTTHUMG00000150765 uc011ahw.3 AF115436 NM_004782 CCDS13784 O95721 "9852078|10591208" MGI:1914724 RGD:620225 604202 119761 HGNC:11133 "ENST00000215730.12|NM_004782.4" HGNC:11133 +HGNC:30669 SNAP47 synaptosome associated protein 47 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "SVAP1|SNAP-47" C1orf142 "chromosome 1 open reading frame 142|synaptosomal-associated protein, 47kDa" 2005-07-08 2008-10-27 2016-06-01 2016-06-01 116841 ENSG00000143740 OTTHUMG00000037697 uc001hrf.2 AY090635 NM_053052 CCDS81429 Q5SQN1 16621800 MGI:1915076 RGD:735194 619659 HGNC:30669 "ENST00000617596.5|NM_053052.4" +HGNC:41501 SNAP47-AS1 SNAP47 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.13 01q42.13 SNAP47-IT1 "SNAP47 intronic transcript 1 (non-protein coding)|SNAP47 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2011-08-10 2012-05-25 2012-08-15 2014-11-19 100885800 ENSG00000230005 OTTHUMG00000041233 uc057qas.1 AK057311 SNAP47-AS1 +HGNC:14986 SNAP91 synaptosome associated protein 91 protein-coding gene gene with protein product Approved 6q14.2 06q14.2 "KIAA0656|AP180|CALM" synaptosomal-associated protein, 91 kDa (mouse) homolog 2001-03-27 2016-06-01 2016-10-05 9892 ENSG00000065609 OTTHUMG00000015114 uc063puv.1 AB014556 NM_001242792 "CCDS87418|CCDS47455|CCDS56437|CCDS56438" O60641 "9734811|12493563|10436022" MGI:109132 RGD:69276 607923 HGNC:14986 "ENST00000369694.7|NM_001242792.2" +HGNC:11134 SNAPC1 small nuclear RNA activating complex polypeptide 1 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "SNAP43|PTFgamma" "small nuclear RNA activating complex, polypeptide 1, 43kD|small nuclear RNA activating complex, polypeptide 1, 43kDa" SNAP complex 952 1996-04-12 2015-11-09 2016-10-05 6617 ENSG00000023608 OTTHUMG00000140343 uc001xft.3 Z47542 NM_003082 CCDS9755 Q16533 9644240 MGI:1922877 RGD:1304671 600591 HGNC:11134 "ENST00000216294.5|NM_003082.4" +HGNC:11135 SNAPC2 small nuclear RNA activating complex polypeptide 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "SNAP45|PTFdelta" "small nuclear RNA activating complex, polypeptide 2, 45kD|small nuclear RNA activating complex, polypeptide 2, 45kDa" SNAP complex 952 1996-04-12 2015-11-09 2020-04-01 6618 ENSG00000104976 OTTHUMG00000182456 uc002miw.3 U44898 NM_003083 CCDS12190 Q13487 8633057 MGI:1914861 RGD:1304589 605076 HGNC:11135 "ENST00000221573.11|NM_003083.4" +HGNC:11136 SNAPC3 small nuclear RNA activating complex polypeptide 3 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 "SNAP50|PTFbeta|MGC33124|MGC132011" "small nuclear RNA activating complex, polypeptide 3, 50kD|small nuclear RNA activating complex, polypeptide 3, 50kDa" SNAP complex 952 1996-04-12 2015-11-09 2015-11-09 6619 ENSG00000164975 OTTHUMG00000019583 uc064sfa.1 U71300 NM_001039697 CCDS6478 Q92966 9003788 MGI:1916338 RGD:1305172 602348 HGNC:11136 "ENST00000380821.8|NM_001039697.2" +HGNC:11137 SNAPC4 small nuclear RNA activating complex polypeptide 4 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "SNAP190|PTFalpha|FLJ13451" "small nuclear RNA activating complex, polypeptide 4, 190kD|small nuclear RNA activating complex, polypeptide 4, 190kDa" "Myb/SANT domain containing|SNAP complex " "532|952" 1998-02-17 2015-11-09 2015-11-09 6621 ENSG00000165684 OTTHUMG00000020929 uc004chh.4 AF032387 NM_003086 CCDS6998 Q5SXM2 9418884 MGI:2443935 RGD:1309048 602777 HGNC:11137 "ENST00000684778.1|NM_003086.4" +HGNC:15484 SNAPC5 small nuclear RNA activating complex polypeptide 5 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 SNAP19 "small nuclear RNA activating complex, polypeptide 5, 19kD|small nuclear RNA activating complex, polypeptide 5, 19kDa" "SNAP complex |MicroRNA protein coding host genes" "952|1691" 2001-04-04 2015-11-09 2016-10-05 10302 ENSG00000174446 OTTHUMG00000133195 uc002apu.2 AF093593 NM_001329613 "CCDS10217|CCDS86469" O75971 9732265 MGI:1914282 RGD:1582813 605979 HGNC:15484 "ENST00000316634.6|NM_001329615.2" +HGNC:38667 SNAPC5P1 small nuclear RNA activating complex polypeptide 5 pseudogene 1 pseudogene pseudogene Approved 6p25.1 06p25.1 small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1 2010-07-08 2015-11-09 2015-11-09 100750245 ENSG00000241216 OTTHUMG00000014187 NG_030348 PGOHUM00000243051 HGNC:38667 +HGNC:17145 SNAPIN SNAP associated protein protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "BLOC1S7|BORCS3" "snapin|SNAP-25-binding protein|biogenesis of lysosomal organelles complex-1, subunit 7|BLOC-1 related complex subunit 3" SNAPAP SNAP-associated protein "Biogenesis of lysosomal organelles complex 1 subunits|BLOC-1 related complex subunits" "452|1048" 2004-01-16 2007-11-14 2016-01-25 2019-06-03 23557 ENSG00000143553 OTTHUMG00000037086 uc001fcq.5 AF086837 NM_012437 CCDS1049 O95295 "10195194|12659861" MGI:1333745 RGD:1560377 607007 HGNC:17145 "ENST00000368685.6|NM_012437.6" +HGNC:34304 SNAR-A1 small NF90 (ILF3) associated RNA A1 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 SNAR-A53113498 "small nuclear ILF3/NF90-associated RNA A1|small ILF3/NF90-associated RNA A1" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-24 100126798 EU071051 NR_004435 17855395 HGNC:34304 +HGNC:34305 SNAR-A2 small NF90 (ILF3) associated RNA A2 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 SNAR-A53129250 "small nuclear ILF3/NF90-associated RNA A2|small ILF3/NF90-associated RNA A2" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100126799 EU071052 NR_004436 17855395 HGNC:34305 +HGNC:34306 SNAR-A3 small NF90 (ILF3) associated RNA A3 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 snaR-A53118848 "small nuclear ILF3/NF90-associated RNA A3|small ILF3/NF90-associated RNA A3" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100169951 EU071053 NR_024214 17855395 HGNC:34306 +HGNC:34307 SNAR-A4 small NF90 (ILF3) associated RNA A4 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 snaR-A55287678 "small nuclear ILF3/NF90-associated RNA A4|small ILF3/NF90-associated RNA A4" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100169956 EU071054 NR_024215 17855395 HGNC:34307 +HGNC:34308 SNAR-A5 small NF90 (ILF3) associated RNA A5 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 snaR-A55296080 "small nuclear ILF3/NF90-associated RNA A5|small ILF3/NF90-associated RNA A5" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100169952 EU071055 NR_024223 17855395 HGNC:34308 +HGNC:34309 SNAR-A6 small NF90 (ILF3) associated RNA A6 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 snaR-A55299144 "small nuclear ILF3/NF90-associated RNA A6|small ILF3/NF90-associated RNA A6" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100169957 EU071056 NR_024227 17855395 HGNC:34309 +HGNC:34310 SNAR-A7 small NF90 (ILF3) associated RNA A7 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 snaR-A55302203 "small nuclear ILF3/NF90-associated RNA A7|small ILF3/NF90-associated RNA A7" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100169953 EU071057 NR_024224 17855395 HGNC:34310 +HGNC:34311 SNAR-A8 small NF90 (ILF3) associated RNA A8 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 snaR-A55307557 "small nuclear ILF3/NF90-associated RNA A8|small ILF3/NF90-associated RNA A8" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100169958 EU071058 NR_024228 17855395 HGNC:34311 +HGNC:34312 SNAR-A9 small NF90 (ILF3) associated RNA A9 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 snaR-A55312909 "small nuclear ILF3/NF90-associated RNA A9|small ILF3/NF90-associated RNA A9" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100169955 EU071059 NR_024226 17855395 HGNC:34312 +HGNC:34313 SNAR-A10 small NF90 (ILF3) associated RNA A10 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 snaR-A55318263 small ILF3/NF90-associated RNA A10 Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170216 EU071060 NR_024229 17855395 HGNC:34313 +HGNC:34314 SNAR-A11 small NF90 (ILF3) associated RNA A11 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 snaR-A55323591 "small nuclear ILF3/NF90-associated RNA A11|small ILF3/NF90-associated RNA A11" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100169954 EU071061 NR_024225 17855395 HGNC:34314 +HGNC:34315 SNAR-A12 small NF90 (ILF3) associated RNA A12 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 "small nuclear ILF3/NF90-associated RNA A12|small ILF3/NF90-associated RNA A12" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100126800 EU071062 NR_004437 17855395 HGNC:34315 +HGNC:34316 SNAR-A13 small NF90 (ILF3) associated RNA A13 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 snaR-A53139991 "small nuclear ILF3/NF90-associated RNA A13|small ILF3/NF90-associated RNA A13" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100169959 EU071063 NR_024216 17855395 HGNC:34316 +HGNC:34338 SNAR-A14 small NF90 (ILF3) associated RNA A14 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 SNAR-A55293015 "small nuclear ILF3/NF90-associated RNA A14|small ILF3/NF90-associated RNA A14" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100191063 NR_024242 17855395 HGNC:34338 +HGNC:34317 SNAR-B1 small NF90 (ILF3) associated RNA B1 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 small ILF3/NF90-associated RNA B1 Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170224 EU071064 NR_024231 17855395 HGNC:34317 +HGNC:34318 SNAR-B2 small NF90 (ILF3) associated RNA B2 non-coding RNA RNA, ribosomal Approved 19q13.33 19q13.33 small ILF3/NF90-associated RNA B2 Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170217 EU071065 NR_024230 17855395 HGNC:34318 +HGNC:34319 SNAR-C1 small NF90 (ILF3) associated RNA C1 non-coding RNA RNA, misc Approved 19q13.32 19q13.32 small ILF3/NF90-associated RNA C1 Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170225 EU071066 NR_024220 17855395 HGNC:34319 +HGNC:34320 SNAR-C2 small NF90 (ILF3) associated RNA C2 non-coding RNA RNA, misc Approved 19q13.32 19q13.32 small ILF3/NF90-associated RNA C2 Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170218 EU071067 NR_024217 17855395 HGNC:34320 +HGNC:34321 SNAR-C3 small NF90 (ILF3) associated RNA C3 non-coding RNA RNA, misc Approved 19q13.32 19q13.32 small ILF3/NF90-associated RNA C3 Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170226 EU071068 NR_024221 17855395 HGNC:34321 +HGNC:34322 SNAR-C4 small NF90 (ILF3) associated RNA C4 non-coding RNA RNA, misc Approved 19q13.32 19q13.32 small ILF3/NF90-associated RNA C4 Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170219 EU071069 NR_024218 17855395 HGNC:34322 +HGNC:34323 SNAR-C5 small NF90 (ILF3) associated RNA C5 non-coding RNA RNA, misc Approved 19q13.32 19q13.32 small ILF3/NF90-associated RNA C5 Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170223 EU071070 NR_024219 17855395 HGNC:34323 +HGNC:34324 SNAR-D small NF90 (ILF3) associated RNA D non-coding RNA RNA, misc Approved 19q13.33 19q13.33 small ILF3/NF90-associated RNA D Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170227 EU071071 NR_024243 17855395 HGNC:34324 +HGNC:34325 SNAR-E small NF90 (ILF3) associated RNA E non-coding RNA RNA, misc Approved 19q13.32 19q13.32 small ILF3/NF90-associated RNA E Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170220 EU071072 NR_024258 17855395 HGNC:34325 +HGNC:34326 SNAR-F small NF90 (ILF3) associated RNA F non-coding RNA RNA, misc Approved 19q13.33 19q13.33 "small nuclear ILF3/NF90-associated RNA F|small ILF3/NF90-associated RNA F" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100126781 EU071073 NR_004384 17855395 HGNC:34326 +HGNC:34327 SNAR-G1 small NF90 (ILF3) associated RNA G1 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 "small nuclear ILF3/NF90-associated RNA G1|small ILF3/NF90-associated RNA G1" Small NF90 (ILF3) associated RNAs 1624 2008-06-20 2018-05-02 2018-10-18 100126780 EU071074 NR_004383 17855395 HGNC:34327 +HGNC:34328 SNAR-G2 small NF90 (ILF3) associated RNA G2 non-coding RNA RNA, misc Approved 19q13.33 19q13.33 small ILF3/NF90-associated RNA G2 Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170228 EU071075 NR_024244 17855395 HGNC:34328 +HGNC:34329 SNAR-H small NF90 (ILF3) associated RNA H non-coding RNA RNA, misc Approved 2p12 02p12 snaR-2 small ILF3/NF90-associated RNA 2 small ILF3/NF90-associated RNA H Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170221 EU071076 NR_024342 17855395 HGNC:34329 +HGNC:34330 SNAR-I small NF90 (ILF3) associated RNA I non-coding RNA RNA, misc Approved 3q28 03q28 snaR-3 small ILF3/NF90-associated RNA 3 small ILF3/NF90-associated RNA I Small NF90 (ILF3) associated RNAs 1624 2008-07-03 2018-05-02 2018-10-18 100170222 EU071077 NR_024343 17855395 HGNC:34330 +HGNC:11138 SNCA synuclein alpha protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "NACP|PD1" "non A4 component of amyloid precursor|alpha-synuclein|α-synuclein" "PARK1|PARK4" "Parkinson disease (autosomal dominant, Lewy body) 4|synuclein, alpha (non A4 component of amyloid precursor)" 1995-01-24 2015-11-13 2021-05-26 6622 ENSG00000145335 OTTHUMG00000130948 uc003hsr.4 L08850 NM_000345 "CCDS3634|CCDS43252" P37840 "8248242|14593171" MGI:1277151 RGD:3729 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SNCA 163890 119763 HGNC:11138 "ENST00000394991.8|NM_000345.4" HGNC:11138 +HGNC:50600 SNCA-AS1 SNCA antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q22.1 04q22.1 Antisense RNAs 1987 2014-05-22 2014-05-22 644248 ENSG00000247775 OTTHUMG00000161186 NR_045481 SNCA-AS1 HGNC:50600 +HGNC:11139 SNCAIP synuclein alpha interacting protein protein-coding gene gene with protein product Approved 5q23.2 05q23.2 SYPH1 synphilin Ankyrin repeat domain containing 403 1999-05-21 2015-11-13 2016-02-15 9627 ENSG00000064692 OTTHUMG00000128915 uc003ksw.2 AF167306 NM_001242935 "CCDS58964|CCDS4131|CCDS78054" Q9Y6H5 10319874 MGI:1915097 RGD:1309283 603779 HGNC:11139 "ENST00000261368.13|NM_005460.4" +HGNC:11140 SNCB synuclein beta protein-coding gene gene with protein product Approved 5q35.2 05q35.2 β-synuclein MicroRNA protein coding host genes 1691 1995-03-03 2015-11-13 2018-04-18 6620 ENSG00000074317 OTTHUMG00000130661 uc003meq.4 AF053134 NM_001001502 "CCDS4406|CCDS83048" Q16143 "7558013|9806846" MGI:1889011 RGD:70992 602569 158439 HGNC:11140 "ENST00000393693.7|NM_003085.5" HGNC:11140 +HGNC:11141 SNCG synuclein gamma protein-coding gene gene with protein product Approved 10q23.2 10q23.2 "BCSG1|SR|persyn" "synoretin|breast cancer-specific gene 1|ɣ-synuclein" 1998-04-07 2015-11-13 2018-04-18 6623 ENSG00000173267 OTTHUMG00000018656 uc001keb.3 AF044311 NM_001330120 "CCDS7380|CCDS81483" O76070 "9044857|9700196" MGI:1298397 RGD:70996 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602998 HGNC:11141 "ENST00000372017.4|NM_003087.3" +HGNC:30646 SND1 staphylococcal nuclease and tudor domain containing 1 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "TDRD11|p100" "p100 EBNA2 co-activator|Tudor-SN" "Tudor domain containing|MicroRNA protein coding host genes" "780|1691" 2006-12-19 2016-10-05 27044 ENSG00000197157 OTTHUMG00000157560 uc003vmi.4 NM_014390 CCDS34747 Q7KZF4 "7651391|9003410|12819296" MGI:1929266 RGD:631340 SND1 602181 HGNC:30646 "ENST00000354725.8|NM_014390.4" +HGNC:55639 SND1-DT SND1 divergent transcript non-coding RNA RNA, long non-coding Approved 7q32.1 07q32.1 Divergent transcripts 1990 2021-06-25 2021-06-25 121832805 ENSG00000240790 XR_007060514 +HGNC:24158 SND1-IT1 SND1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 7q32.1 07q32.1 "NAG8|NSG-X" nasopharyngeal carcinoma associated gene protein-8 C7orf54 "chromosome 7 open reading frame 54|SND1 intronic transcript 1 (non-protein coding)" Intronic transcripts 1989 2007-07-13 2011-11-25 2015-02-25 2015-02-25 27099 ENSG00000279078 OTTHUMG00000189460 uc003vmj.4 AF191492 NR_027330 Q9HBX3 SND1-IT1 HGNC:24158 +HGNC:24696 SNED1 sushi, nidogen and EGF like domains 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "FLJ00133|SST3|Snep" sushi, nidogen and EGF-like domains 1 "Fibronectin type III domain containing|Sushi domain containing" "555|1179" 2004-10-18 2016-01-21 2018-11-19 25992 ENSG00000162804 OTTHUMG00000151803 uc002wah.2 AK074062 NM_001080437 CCDS46562 Q8TER0 15162516 MGI:3045960 RGD:1566079 616634 HGNC:24696 "ENST00000310397.13|NM_001080437.3" +HGNC:41060 SNED1-AS1 SNED1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 Antisense RNAs 1987 2020-03-27 2020-03-27 105373970 ENSG00000225521 OTTHUMG00000151792 XR_007088302 +HGNC:17028 SNF8 SNF8 subunit of ESCRT-II protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "EAP30|VPS22|Dot3" SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) ESCRT-II 1117 2005-08-02 2019-01-31 2019-01-31 11267 ENSG00000159210 OTTHUMG00000160569 uc002ioj.5 AF156102 NM_007241 "CCDS82156|CCDS11541" Q96H20 "10419521|15329733" MGI:1343161 RGD:1310144 610904 HGNC:17028 "ENST00000502492.6|NM_007241.4" +HGNC:54702 SNF8P1 SNF8 pseudogene 1 pseudogene pseudogene Approved 2q36.3 02q36.3 2019-11-29 2019-11-29 646794 ENSG00000203387 NG_021553 +HGNC:32688 SNHG1 small nucleolar RNA host gene 1 non-coding RNA RNA, long non-coding Approved 11q12.3 11q12.3 "UHG|NCRNA00057|LINC00057|lncRNA16" "U22 snoRNA host gene|non-protein coding RNA 57|long intergenic non-protein coding RNA 57" small nucleolar RNA host gene 1 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2006-07-31 2015-02-20 2017-04-28 23642 ENSG00000255717 OTTHUMG00000167743 uc058cou.1 L36588 NR_003098 "8559254|23801869|26252651|27999202" 603222 snhg1 SNHG1 HGNC:32688 +HGNC:10118 SNHG3 small nucleolar RNA host gene 3 non-coding RNA RNA, long non-coding Approved 1p35.3 01p35.3 "U17HG|U17HG-A|NCRNA00014" non-protein coding RNA 14 "RNU17D|RNU17C" "RNA, U17D small nucleolar|RNA, U17C small nucleolar|small nucleolar RNA host gene 3 (non-protein coding)" Small nucleolar RNA non-coding host genes 1839 1999-12-14 2006-07-31 2015-02-20 2018-08-09 8420 ENSG00000242125 OTTHUMG00000003657 uc031tvj.2 AJ006834 NR_002909.1 "9671460|30042166" MGI:2684817 603238 snhg3 SNHG3 HGNC:10118 +HGNC:32964 SNHG4 small nucleolar RNA host gene 4 non-coding RNA RNA, long non-coding Approved 5q31.2 05q31.2 "U19H|NCRNA00059" non-protein coding RNA 59 small nucleolar RNA host gene 4 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2006-07-31 2015-02-20 2015-02-20 724102 ENSG00000281398 OTTHUMG00000189582 uc063hpd.1 NR_003141 9630250 snhg4 SNHG4 HGNC:32964 +HGNC:21026 SNHG5 small nucleolar RNA host gene 5 non-coding RNA RNA, long non-coding Approved 6q14.3 06q14.3 "MGC16362|bA33E24.2|U50HG|NCRNA00044|LINC00044" "non-protein coding RNA 44|long intergenic non-protein coding RNA 44" C6orf160 "chromosome 6 open reading frame 160|small nucleolar RNA host gene 5 (non-protein coding)" Small nucleolar RNA non-coding host genes 1839 2003-11-26 2006-07-31 2015-02-20 2018-08-09 387066 ENSG00000203875 OTTHUMG00000015144 uc063pxm.1 BC009220 NR_003038 "10792466|28004750" MGI:1919905 613263 snhg5 SNHG5 HGNC:21026 +HGNC:32965 SNHG6 small nucleolar RNA host gene 6 non-coding RNA RNA, long non-coding Approved 8q13.1 08q13.1 "U87HG|HBII-276HG|NCRNA00058" non-protein coding RNA 58 small nucleolar RNA host gene 6 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2006-07-31 2015-02-20 2017-07-14 641638 ENSG00000245910 OTTHUMG00000164743 uc064nkv.1 AY264285 NR_002599 "16226852|28683446" MGI:1921074 612215 snhg6 SNHG6 HGNC:32965 +HGNC:28254 SNHG7 small nucleolar RNA host gene 7 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 "MGC16037|NCRNA00061" non-protein coding RNA 61 small nucleolar RNA host gene 7 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2006-08-03 2015-02-20 2022-01-10 84973 ENSG00000233016 OTTHUMG00000020949 uc004cim.4 "CR599965|BC042369" NR_003672 27666964 MGI:1919341 SNHG7 HGNC:28254 +HGNC:33098 SNHG8 small nucleolar RNA host gene 8 non-coding RNA RNA, long non-coding Approved 4q26 04q26 "NCRNA00060|LINC00060" "non-protein coding RNA 60|long intergenic non-protein coding RNA 60" small nucleolar RNA host gene 8 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2006-08-03 2015-02-20 2018-09-07 100093630 ENSG00000269893 OTTHUMG00000183991 uc003iby.4 "BC017993|CR625561|BC039555" NR_003584 "15199136|27835598" MGI:1917145 SNHG8 HGNC:33098 +HGNC:33102 SNHG9 small nucleolar RNA host gene 9 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 "DKFZp686N06141|NCRNA00062" non-protein coding RNA 62 small nucleolar RNA host gene 9 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2006-08-07 2015-02-20 2019-05-09 735301 ENSG00000255198 OTTHUMG00000166082 uc002cnr.4 "CR749453|BC028232" NR_003142 30210701 MGI:1920724 SNHG9 HGNC:33102 +HGNC:27510 SNHG10 small nucleolar RNA host gene 10 non-coding RNA RNA, long non-coding Approved 14q32.13 14q32.13 "FLJ40557|NCRNA00063|LINC00063" "non-protein coding RNA 63|long intergenic non-protein coding RNA 63" C14orf62 "chromosome 14 open reading frame 62|small nucleolar RNA host gene 10 (non-protein coding)" Small nucleolar RNA non-coding host genes 1839 2006-08-16 2015-02-20 2015-02-20 283596 ENSG00000247092 OTTHUMG00000171635 uc059eus.1 NR_001459 12477932 MGI:1916684 SNHG10 HGNC:27510 +HGNC:25046 SNHG11 small nucleolar RNA host gene 11 non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 LINC00101 long intergenic non-protein coding RNA 101 C20orf198 "chromosome 20 open reading frame 198|small nucleolar RNA host gene 11 (non-protein coding)" Small nucleolar RNA non-coding host genes 1839 2006-08-03 2008-04-16 2015-02-20 2019-05-09 128439 ENSG00000174365 OTTHUMG00000032449 uc061wye.1 AF497716 NR_003239 23698766 MGI:2441845 RGD:1563912 619494 SNHG11 HGNC:25046 +HGNC:30062 SNHG12 small nucleolar RNA host gene 12 non-coding RNA RNA, long non-coding Approved 1p35.3 01p35.3 "PNAS-123|LINC00100|ASLNC04080" long intergenic non-protein coding RNA 100 C1orf79 "chromosome 1 open reading frame 79|small nucleolar RNA host gene 12 (non-protein coding)" Small nucleolar RNA non-coding host genes 1839 2005-05-24 2008-09-05 2015-02-20 2016-12-21 85028 ENSG00000197989 OTTHUMG00000003654 uc057dzf.1 "AF277181|KJ782215" NR_024127 Q9BXW3 "25695231|27980086" SNHG12 HGNC:30062 +HGNC:37462 SNHG14 small nucleolar RNA host gene 14 non-coding RNA RNA, long non-coding Approved 15q11.2 15q11.2 "NCRNA00214|UBE3A-AS|UBE3A-ATS" "non-protein coding RNA 214|UBE3A antisense" UBE3A-AS1 "UBE3A antisense RNA 1 (non-protein coding)|small nucleolar RNA host gene 14 (non-protein coding)" Small nucleolar RNA non-coding host genes 1839 2009-10-16 2011-08-22 2015-02-20 2018-08-23 104472715 ENSG00000224078 OTTHUMG00000056661 uc001yzw.2 NR_146177 "15226413|23771028|28215748" 616259 HGNC:37462 +HGNC:27797 SNHG15 small nucleolar RNA host gene 15 non-coding RNA RNA, long non-coding Approved 7p13 07p13 "FLJ38860|MYO1GUT|Linc-Myo1g" MYO1G upstream transcript C7orf40 "chromosome 7 open reading frame 40|small nucleolar RNA host gene 15 (non-protein coding)" Small nucleolar RNA non-coding host genes 1839 2006-08-04 2011-11-24 2015-02-20 2019-05-09 285958 ENSG00000232956 OTTHUMG00000179544 uc003tml.5 "BC092459|AK096179" NR_003697 "24036268|26662309" MGI:3650059 linc1257 SNHG15 HGNC:27797 +HGNC:44352 SNHG16 small nucleolar RNA host gene 16 non-coding RNA RNA, long non-coding Approved 17q25.1 17q25.1 "ncRAN|Nbla12061|Nbla10727" non-coding RNA expressed in aggressive neuroblastoma small nucleolar RNA host gene 16 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2012-08-17 2015-02-20 2018-09-07 100507246 ENSG00000163597 OTTHUMG00000132201 uc002jsd.2 "BC042949|BC100293|AB447886" NR_038108 "19287950|21147498|24519959" MGI:1913543 ncran SNHG16 HGNC:44352 +HGNC:48600 SNHG17 small nucleolar RNA host gene 17 non-coding RNA RNA, long non-coding Approved 20q11.23 20q11.23 small nucleolar RNA host gene 17 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2013-05-23 2015-02-20 2018-08-05 388796 ENSG00000196756 OTTHUMG00000032442 "BC032119|BC052370" NR_015366 28933484 SNHG17 HGNC:48600 +HGNC:49007 SNHG18 small nucleolar RNA host gene 18 non-coding RNA RNA, long non-coding Approved 5p15.31 05p15.31 small nucleolar RNA host gene 18 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2013-07-30 2015-02-20 2018-09-07 100505806 ENSG00000250786 OTTHUMG00000161753 NR_045196 27788958 MGI:1914085 SNHG18 HGNC:49007 +HGNC:49574 SNHG19 small nucleolar RNA host gene 19 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 SNORD60HG small nucleolar RNA host gene 19 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2014-01-17 2015-02-20 2019-07-11 100507303 ENSG00000260260 OTTHUMG00000177010 NR_132114 31280115 SNHG19 HGNC:49574 +HGNC:33099 SNHG20 small nucleolar RNA host gene 20 non-coding RNA RNA, long non-coding Approved 17q25.2 17q25.2 "PRO0872|FLJ25582|DKFZp686L05235|SCARNA16HG" "C17orf86|NCRNA00338|LINC00338" "chromosome 17 open reading frame 86|non-protein coding RNA 338|long intergenic non-protein coding RNA 338|small nucleolar RNA host gene 20 (non-protein coding)" Small nucleolar RNA non-coding host genes 1839 2006-08-03 2014-03-31 2015-02-20 2019-05-09 654434 ENSG00000234912 OTTHUMG00000132169 AF130050 NR_027058 "16373490|27053960|28282787" MGI:1924222 SNHG20 HGNC:33099 +HGNC:50284 SNHG21 small nucleolar RNA host gene 21 non-coding RNA RNA, long non-coding Approved 15q25.2 15q25.2 "SCARNA15HG|FSD2-AS1|RP11-752G15.6" FSD2 antisense RNA 1 small nucleolar RNA host gene 21 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2014-03-27 2015-02-20 2015-02-20 100505616 ENSG00000250988 OTTHUMG00000172404 "AA284521|BX112407" NR_110096 SNHG21 HGNC:50284 +HGNC:50285 SNHG22 small nucleolar RNA host gene 22 non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 SCARNA17HG small nucleolar RNA host gene 22 (non-protein coding) Small nucleolar RNA non-coding host genes 1839 2014-03-27 2015-02-20 2015-02-20 103091864 ENSG00000267322 OTTHUMG00000179829 AK123464 NR_117096 SNHG22 HGNC:50285 +HGNC:51534 SNHG25 small nucleolar RNA host gene 25 non-coding RNA RNA, long non-coding Approved 17q23.3 17q23.3 Small nucleolar RNA non-coding host genes 1839 2015-02-20 2020-10-21 105376843 ENSG00000266402 OTTHUMG00000178880 NR_132278 SNHG25 HGNC:51534 +HGNC:53131 SNHG26 small nucleolar RNA host gene 26 non-coding RNA RNA, long non-coding Approved 7p15.3 07p15.3 AC005682.5 Small nucleolar RNA non-coding host genes 1839 2017-02-16 2021-10-22 109729180 ENSG00000228649 OTTHUMG00000152563 NR_146320 28060759 HGNC:53131 +HGNC:53481 SNHG27 small nucleolar RNA host gene 27 non-coding RNA RNA, long non-coding Approved 4q28.3 04q28.3 Small nucleolar RNA non-coding host genes 1839 2017-05-03 2017-05-03 101927305 ENSG00000251676 OTTHUMG00000161213 NR_125883 HGNC:53481 +HGNC:27647 SNHG28 small nucleolar RNA host gene 28 non-coding RNA RNA, long non-coding Approved 1q23.2 01q23.2 "FLJ39187|VSIG8-OT1" VSIG8 overlapping transcript 1 C1orf204 chromosome 1 open reading frame 204 Small nucleolar RNA non-coding host genes 1839 2005-12-01 2017-05-04 2017-05-04 2019-09-05 284677 ENSG00000188004 OTTHUMG00000035430 uc001fug.1 AK096506 NR_147122 P0DPA3 HGNC:27647 +HGNC:28619 SNHG29 small nucleolar RNA host gene 29 non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 MGC40157 "C17orf45|NCRNA00188|C17orf76-AS1|FAM211A-AS1|LRRC75A-AS1" "chromosome 17 open reading frame 45|non-protein coding RNA 188|C17orf76 antisense RNA 1 (non-protein coding)|C17orf76 antisense RNA 1|FAM211A antisense RNA 1|LRRC75A antisense RNA 1" Small nucleolar RNA non-coding host genes 1839 2005-12-13 2018-10-17 2018-10-17 2018-10-17 125144 ENSG00000175061 OTTHUMG00000058990 BC027986 NR_027160 "27716329|29901168" LRRC75A-AS1 HGNC:28619 +HGNC:52836 SNHG30 small nucleolar RNA host gene 30 non-coding RNA RNA, long non-coding Approved 17q12 17q12 RP11-1094M14.11 LINC02001 long intergenic non-protein coding RNA 2001 Small nucleolar RNA non-coding host genes 1839 2016-12-12 2019-03-07 2019-03-07 2019-03-07 105371743 ENSG00000267321 OTTHUMG00000179915 NR_135479 27980086 HGNC:52836 +HGNC:54196 SNHG31 small nucleolar RNA host gene 31 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Small nucleolar RNA non-coding host genes 1839 2019-03-07 2019-03-07 101928103 ENSG00000229267 NR_110292 29365324 HGNC:54196 +HGNC:19078 SNHG32 small nucleolar RNA host gene 32 non-coding RNA RNA, long non-coding Approved 6p21.33 06p21.33 "D6S57|G8" C6orf48 chromosome 6 open reading frame 48 Small nucleolar RNA non-coding host genes 1839 2002-08-13 2019-03-13 2019-03-13 2020-03-04 50854 ENSG00000204387 OTTHUMG00000031175 uc003rjy.4 AJ249732 NR_160945 8096093 605447 HGNC:19078 +HGNC:30587 SNIP1 Smad nuclear interacting protein 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 PML1 PML1 homolog (yeast) Spliceosomal P complex 1516 2005-06-06 2021-05-26 79753 ENSG00000163877 OTTHUMG00000004225 uc001cbi.5 NM_024700 CCDS419 Q8TAD8 "10887155|15378006" MGI:2156003 RGD:1359268 608241 471120 HGNC:30587 "ENST00000296215.8|NM_024700.4" HGNC:30587 +HGNC:11149 SNN stannin protein-coding gene gene with protein product Approved 16p13.13 16p13.13 1998-09-15 2016-10-05 8303 ENSG00000184602 OTTHUMG00000090535 uc002dbf.5 AF030196 NM_003498 CCDS10549 O75324 9657854 MGI:1276549 RGD:3730 603032 HGNC:11149 "ENST00000329565.6|NM_003498.6" +HGNC:32557 SNORA1 small nucleolar RNA, H/ACA box 1 non-coding RNA RNA, small nucleolar Approved 11q21 11q21 ACA1 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2018-06-15 677792 ENSG00000206834 uc064mxy.1 AJ609425 NR_003026 "15199136|16381836" SR0000068 HGNC:32557 +HGNC:52193 SNORA1B small nucleolar RNA, H/ACA box 1B non-coding RNA RNA, small nucleolar Approved 8q12.1 08q12.1 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617001 ENSG00000199405 NR_145767 27174936 HGNC:52193 +HGNC:32584 SNORA2A small nucleolar RNA, H/ACA box 2A non-coding RNA RNA, small nucleolar Approved 12q13.11 12q13.11 ACA2A Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677793 ENSG00000206612 uc001rsb.1 AJ609426 NR_002950 "15199136|16381836" SR0000077 HGNC:32584 +HGNC:32585 SNORA2B small nucleolar RNA, H/ACA box 2B non-coding RNA RNA, small nucleolar Approved 12q13.11 12q13.11 ACA2b Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677794 ENSG00000207313 uc001rsc.1 AJ609427 NR_002951 "15199136|16381836" SR0000078 HGNC:32585 +HGNC:32624 SNORA2C small nucleolar RNA, H/ACA box 2C non-coding RNA RNA, small nucleolar Approved 12q13.11 12q13.11 ACA34 SNORA34 small nucleolar RNA, H/ACA box 34 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-11-11 2015-11-11 2015-11-11 677815 ENSG00000221491 uc001rsa.3 AJ609443 NR_002968 "15199136|16381836" 615487 SR0000076 HGNC:32624 +HGNC:32586 SNORA3A small nucleolar RNA, H/ACA box 3A non-coding RNA RNA, small nucleolar Approved 11p15.4 11p15.4 ACA3 "SNORA3|SNORA45A" "small nucleolar RNA, H/ACA box 3|small nucleolar RNA, H/ACA box 45A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-11-11 2015-11-11 2015-11-11 619562 ENSG00000200983 uc064myo.1 AJ609428 NR_002580 "15199136|16381836" SR0000046 HGNC:32586 +HGNC:32638 SNORA3B small nucleolar RNA, H/ACA box 3B non-coding RNA RNA, small nucleolar Approved 11p15.4 11p15.4 ACA3-2 "SNORA45|SNORA45B" "small nucleolar RNA, H/ACA box 45|small nucleolar RNA, H/ACA box 45B" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-11-11 2015-11-11 2015-11-11 677826 ENSG00000212607 AM055744 NR_002977 "16361266|16381836" 611333 SR0000047 HGNC:32638 +HGNC:52203 SNORA3C small nucleolar RNA, H/ACA box 3C non-coding RNA RNA, small nucleolar Approved 16p13.3 16p13.3 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616997 ENSG00000221719 NR_145775 27174936 HGNC:52203 +HGNC:32587 SNORA4 small nucleolar RNA, H/ACA box 4 non-coding RNA RNA, small nucleolar Approved 3q27.3 03q27.3 ACA4 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 619568 ENSG00000263776 uc064drd.1 AJ609452 NR_002588 "15199136|16381836" SR0000316 HGNC:32587 +HGNC:32588 SNORA5A small nucleolar RNA, H/ACA box 5A non-coding RNA RNA, small nucleolar Approved 7p13 07p13 ACA5 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 654319 ENSG00000206838 uc003tmz.3 AJ609453 NR_002919 "15199136|16381836" SR0000346 HGNC:32588 +HGNC:32589 SNORA5B small nucleolar RNA, H/ACA box 5B non-coding RNA RNA, small nucleolar Approved 7p13 07p13 ACA5b Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677795 ENSG00000200656 uc003tna.4 NR_002990 "15199136|16381836" SR0000348 HGNC:32589 +HGNC:32590 SNORA5C small nucleolar RNA, H/ACA box 5C non-coding RNA RNA, small nucleolar Approved 7p13 07p13 ACA5c Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677796 ENSG00000201772 uc064dls.1 NR_002991 "15199136|16381836" 611335 SR0000347 HGNC:32590 +HGNC:32591 SNORA6 small nucleolar RNA, H/ACA box 6 non-coding RNA RNA, small nucleolar Approved 3p22.2 03p22.2 ACA6 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 574040 ENSG00000206760 uc062ikb.1 "AJ609429|AF375472" NR_002325 "15199136|16381836" SR0000304 HGNC:32591 +HGNC:32592 SNORA7A small nucleolar RNA, H/ACA box 7A non-coding RNA RNA, small nucleolar Approved 3p25.2 03p25.2 ACA7 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 619563 ENSG00000207496 uc062gwu.1 AJ609430 NR_002582 "15199136|16381836" SR0000303 HGNC:32592 +HGNC:32593 SNORA7B small nucleolar RNA, H/ACA box 7B non-coding RNA RNA, small nucleolar Approved 3q21.3 03q21.3 ACA7B Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677797 ENSG00000207088 uc003emf.2 NR_002992 "15199136|16381836" SR0000308 HGNC:32593 +HGNC:32596 SNORA8 small nucleolar RNA, H/ACA box 8 non-coding RNA RNA, small nucleolar Approved 11q21 11q21 ACA8 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 654320 ENSG00000207304 uc063omb.1 AJ609454 NR_002920 "15199136|16381836" SR0000069 HGNC:32596 +HGNC:32597 SNORA9 small nucleolar RNA, H/ACA box 9 non-coding RNA RNA, small nucleolar Approved 7p13 07p13 "ACA9|SNORA9A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 677798 ENSG00000277184 uc058xko.1 AJ609431 NR_002952 "15199136|16381836" SR0000345 HGNC:32597 +HGNC:52223 SNORA9B small nucleolar RNA, H/ACA box 9B non-coding RNA RNA, small nucleolar Approved 12q24.31 12q24.31 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616977 ENSG00000206897 NR_145743 27174936 HGNC:52223 +HGNC:32598 SNORA10 small nucleolar RNA, H/ACA box 10 non-coding RNA RNA, small nucleolar Approved 16p13.3 16p13.3 "ACA10|SNORA10A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 574042 ENSG00000206811 uc002cnp.1 AJ609432 NR_002327 "15199136|16381836" SR0000216 HGNC:32598 +HGNC:52188 SNORA10B small nucleolar RNA, H/ACA box 10B non-coding RNA RNA, small nucleolar Approved 2p23.1 02p23.1 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616960 ENSG00000207187 NR_145719 27174936 HGNC:52188 +HGNC:32599 SNORA11 small nucleolar RNA, H/ACA box 11 non-coding RNA RNA, small nucleolar Approved Xp11.21 Xp11.21 "U107|SNORA11A" small nucleolar RNA, H/ACA box 11A Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677799 ENSG00000221716 uc059cwa.1 AM055729 NR_002953 "16361266|16381836" 300662 SR0000368 HGNC:32599 +HGNC:33620 SNORA11B small nucleolar RNA, H/ACA box 11B non-coding RNA RNA, small nucleolar Approved 14q32.12 14q32.12 small nucleolar RNA, H/ACA box 11B (retrotransposed) Small nucleolar RNAs, H/ACA box 846 2007-08-24 2012-06-21 2012-06-21 100124539 ENSG00000221102 uc010atw.4 AM413016 NR_003709 SR0000461 HGNC:33620 +HGNC:33621 SNORA11C small nucleolar RNA, H/ACA box 11C non-coding RNA RNA, small nucleolar Approved Xp11.3 Xp11.3 small nucleolar RNA, H/ACA box 11C (retrotransposed) Small nucleolar RNAs, H/ACA box 846 2007-08-24 2012-06-21 2012-06-21 100124540 ENSG00000221459 uc010nhr.2 AM413017 NR_003710 SR0000462 HGNC:33621 +HGNC:33622 SNORA11D small nucleolar RNA, H/ACA box 11D non-coding RNA RNA, small nucleolar Approved Xp11.22 Xp11.22 Small nucleolar RNAs, H/ACA box 846 2007-08-24 2008-09-09 100124541 ENSG00000221475 uc064zhz.1 AM413018 NR_003711 SR0000463 HGNC:33622 +HGNC:33623 SNORA11E small nucleolar RNA, H/ACA box 11E non-coding RNA RNA, small nucleolar Approved Xp11.22 Xp11.22 Small nucleolar RNAs, H/ACA box 846 2007-08-24 2014-01-30 101340250 ENSG00000221705 uc064zho.1 AM413019 NR_102368 SR0000464 HGNC:33623 +HGNC:52189 SNORA11F small nucleolar RNA, H/ACA box 11F non-coding RNA RNA, small nucleolar Approved 10q22.1 10q22.1 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617000 ENSG00000221164 NR_145776 27174936 HGNC:52189 +HGNC:52190 SNORA11G small nucleolar RNA, H/ACA box 11G non-coding RNA RNA, small nucleolar Approved Xp11.21 Xp11.21 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2017-02-15 109616961 ENSG00000221750 NR_145717 27174936 HGNC:52190 +HGNC:32600 SNORA12 small nucleolar RNA, H/ACA box 12 non-coding RNA RNA, small nucleolar Approved 10q24.31 10q24.31 U108 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677800 ENSG00000212464 uc061jii.1 AM055730 NR_002954 "16361266|16381836" 611330 SR0000042 HGNC:32600 +HGNC:32601 SNORA13 small nucleolar RNA, H/ACA box 13 non-coding RNA RNA, small nucleolar Approved 5q22.2 05q22.2 ACA13 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 654322 ENSG00000238363 uc003kpt.1 AJ609455 NR_002922 "3342024|15199136|16381836" SR0000325 HGNC:32601 +HGNC:32602 SNORA14A small nucleolar RNA, H/ACA box 14A non-coding RNA RNA, small nucleolar Approved 7q11.23 07q11.23 ACA14a Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677801 ENSG00000201643 uc003udz.2 AJ609456 NR_002955 "15199136|16381836" SR0000351 HGNC:32602 +HGNC:32603 SNORA14B small nucleolar RNA, H/ACA box 14B non-coding RNA RNA, small nucleolar Approved 1q42.3 01q42.3 ACA14b Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677802 ENSG00000207181 uc001hwm.1 AJ609457 NR_002956 "15199136|16381836" SR0000040 HGNC:32603 +HGNC:32604 SNORA15 small nucleolar RNA, H/ACA box 15 non-coding RNA RNA, small nucleolar Approved 7p11.2 07p11.2 "ACA15|SNORA15A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-11-11 677803 ENSG00000207168 uc064dyr.1 AJ609458 NR_002957 "15199136|16381836" SR0000349 HGNC:32604 +HGNC:52191 SNORA15B-1 small nucleolar RNA, H/ACA box 15B-1 non-coding RNA RNA, small nucleolar Approved 7q11.21 07q11.21 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616962 ENSG00000207062 NR_145716 27174936 HGNC:52191 +HGNC:52192 SNORA15B-2 small nucleolar RNA, H/ACA box 15B-2 non-coding RNA RNA, small nucleolar Approved 7q11.21 07q11.21 SNORA15C small nucleolar RNA, H/ACA box 15C Small nucleolar RNAs, H/ACA box 846 2016-11-18 2015-10-30 2016-11-18 109617022 ENSG00000206785 NR_145713 27174936 HGNC:52192 +HGNC:32605 SNORA16A small nucleolar RNA, H/ACA box 16A non-coding RNA RNA, small nucleolar Approved 1p35.3 01p35.3 ACA16 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-02-02 692073 ENSG00000274582 uc057dzj.1 AJ609433 NR_003035 "15199136|16381836" SR0000008 HGNC:32605 +HGNC:32606 SNORA16B small nucleolar RNA, H/ACA box 16B non-coding RNA RNA, small nucleolar Approved 1q32.3 01q32.3 U98b Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 692157 ENSG00000201544 uc009xdf.2 AY349599 NR_004389 "14602913|16381836" SR0000038 HGNC:32606 +HGNC:32607 SNORA17A small nucleolar RNA, H/ACA box 17A non-coding RNA RNA, small nucleolar Approved 9q34.3 09q34.3 ACA17 SNORA17 small nucleolar RNA, H/ACA box 17 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-11-11 2015-11-11 2015-11-11 677804 ENSG00000274998 uc062ghw.1 AJ609434 NR_002958 "15199136|16381836" SR0000366 HGNC:32607 +HGNC:32636 SNORA17B small nucleolar RNA, H/ACA box 17B non-coding RNA RNA, small nucleolar Approved 9q34.3 09q34.3 ACA43 SNORA43 small nucleolar RNA, H/ACA box 43 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-11-11 2015-11-11 2015-11-11 677824 ENSG00000276161 uc058dwu.1 AJ609446 NR_002975 "15199136|16381836" SR0000365 HGNC:32636 +HGNC:32608 SNORA18 small nucleolar RNA, H/ACA box 18 non-coding RNA RNA, small nucleolar Approved 11q21 11q21 ACA18 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677805 ENSG00000207145 uc062qcu.1 AJ609471 NR_002959 "15199136|16381836" SR0000071 HGNC:32608 +HGNC:32609 SNORA19 small nucleolar RNA, H/ACA box 19 non-coding RNA RNA, small nucleolar Approved 10q26.11 10q26.11 ACA19 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 641451 ENSG00000207468 uc001ldv.4 AJ609435 NR_002917 "15199136|16381836" RGD:9685075 SR0000043 HGNC:32609 +HGNC:32610 SNORA20 small nucleolar RNA, H/ACA box 20 non-coding RNA RNA, small nucleolar Approved 6q25.3 06q25.3 ACA20 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677806 ENSG00000207392 uc064xwp.1 AJ609459 NR_002960 "15199136|16381836" SR0000342 HGNC:32610 +HGNC:52194 SNORA20B small nucleolar RNA, H/ACA box 20B non-coding RNA RNA, small nucleolar Approved 7p14.1 07p14.1 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616963 ENSG00000206947 NR_145730 27174936 HGNC:52194 +HGNC:32611 SNORA21 small nucleolar RNA, H/ACA box 21 non-coding RNA RNA, small nucleolar Approved 17q12 17q12 ACA21 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 619505 ENSG00000199293 uc060eok.1 AJ609436 NR_002576 "15199136|9047361|16381836" SR0000246 HGNC:32611 +HGNC:52195 SNORA21B small nucleolar RNA, H/ACA box 21B non-coding RNA RNA, small nucleolar Approved 17q12 17q12 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617002 ENSG00000252699 NR_145761 27174936 HGNC:52195 +HGNC:32612 SNORA22 small nucleolar RNA, H/ACA box 22 non-coding RNA RNA, small nucleolar Approved 7q11.21 07q11.21 "ACA22|SNORA22A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 677807 ENSG00000206634 uc058msa.1 AJ609437 NR_002961 "15199136|16381836" SR0000350 HGNC:32612 +HGNC:52196 SNORA22B small nucleolar RNA, H/ACA box 22B non-coding RNA RNA, small nucleolar Approved 7p11.2 07p11.2 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616964 ENSG00000206603 NR_145724 27174936 HGNC:52196 +HGNC:52197 SNORA22C small nucleolar RNA, H/ACA box 22C non-coding RNA RNA, small nucleolar Approved 7q11.21 07q11.21 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616965 ENSG00000207344 NR_145729 27174936 HGNC:52197 +HGNC:32613 SNORA23 small nucleolar RNA, H/ACA box 23 non-coding RNA RNA, small nucleolar Approved 11p15.4 11p15.4 ACA23 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677808 ENSG00000201998 uc001mhp.2 AJ609438 NR_002962 "15199136|16381836" SR0000048 HGNC:32613 +HGNC:32614 SNORA24 small nucleolar RNA, H/ACA box 24 non-coding RNA RNA, small nucleolar Approved 4q26 04q26 "ACA24|SNORA24A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 677809 ENSG00000275994 uc059kiy.1 AJ609460 NR_002963 "15199136|16381836" SR0000319 HGNC:32614 +HGNC:52198 SNORA24B small nucleolar RNA, H/ACA box 24B non-coding RNA RNA, small nucleolar Approved 15q22.31 15q22.31 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617003 ENSG00000206903 NR_145768 27174936 HGNC:52198 +HGNC:32615 SNORA25 small nucleolar RNA, H/ACA box 25 non-coding RNA RNA, small nucleolar Approved 11q21 11q21 "ACA25|SNORA25A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 684959 ENSG00000207112 uc058wju.1 AJ609461 NR_003028 "15199136|16381836" SR0000065 HGNC:32615 +HGNC:52199 SNORA25B small nucleolar RNA, H/ACA box 25B non-coding RNA RNA, small nucleolar Approved 7q31.2 07q31.2 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109623459 ENSG00000202377 NR_145801 27174936 HGNC:52199 +HGNC:32616 SNORA26 small nucleolar RNA, H/ACA box 26 non-coding RNA RNA, small nucleolar Approved 4q12 04q12 HBI-6 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677810 ENSG00000212588 uc057pey.1 NR_003016 "11387227|16381836" 614626 SR0000318 HGNC:32616 +HGNC:32617 SNORA27 small nucleolar RNA, H/ACA box 27 non-coding RNA RNA, small nucleolar Approved 13q12.2 13q12.2 ACA27 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 619499 ENSG00000207051 uc021tdc.1 AJ609439 NR_002575 "15199136|16381836" SR0000084 HGNC:32617 +HGNC:32618 SNORA28 small nucleolar RNA, H/ACA box 28 non-coding RNA RNA, small nucleolar Approved 14q32.32 14q32.32 ACA28 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-02-03 677811 ENSG00000272533 uc001ymv.1 AJ609462 NR_002964 "15199136|16381836" SR0000131 HGNC:32618 +HGNC:32619 SNORA29 small nucleolar RNA, H/ACA box 29 non-coding RNA RNA, small nucleolar Approved 6q25.3 06q25.3 ACA29 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677812 ENSG00000206910 uc003qsv.1 AJ609472 NR_002965 "15199136|16381836" SR0000343 HGNC:32619 +HGNC:32620 SNORA30 small nucleolar RNA, H/ACA box 30 non-coding RNA RNA, small nucleolar Approved 16p11.2 16p11.2 "ACA30|SNORA30A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 677813 ENSG00000206755 uc060kur.1 AJ609440 NR_002966 "15199136|16381836" SR0000220 HGNC:32620 +HGNC:52200 SNORA30B small nucleolar RNA, H/ACA box 30B non-coding RNA RNA, small nucleolar Approved 9p21.3 09p21.3 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616992 ENSG00000202189 NR_145762 27174936 HGNC:52200 +HGNC:32621 SNORA31 small nucleolar RNA, H/ACA box 31 non-coding RNA RNA, small nucleolar Approved 13q14.13 13q14.13 "ACA31|SNORA31A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-30 677814 ENSG00000199477 uc001vaa.1 AJ609441 NR_002967 "15199136|16381836" 619378 SR0000085 HGNC:32621 +HGNC:52201 SNORA31B small nucleolar RNA, H/ACA box 31B non-coding RNA RNA, small nucleolar Approved 13q14.13 13q14.13 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2017-02-15 109616966 NR_145726 27174936 HGNC:52201 +HGNC:32622 SNORA32 small nucleolar RNA, H/ACA box 32 non-coding RNA RNA, small nucleolar Approved 11q21 11q21 ACA32 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 692063 ENSG00000206799 uc059dsj.1 AJ609442 NR_003032 "15199136|16381836" SR0000066 HGNC:32622 +HGNC:32623 SNORA33 small nucleolar RNA, H/ACA box 33 non-coding RNA RNA, small nucleolar Approved 6q23.2 06q23.2 ACA33 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 594839 ENSG00000200534 uc063rmd.1 AJ609473 NR_002436 "15199136|16381836" SR0000341 HGNC:32623 +HGNC:32625 SNORA35 small nucleolar RNA, H/ACA box 35 non-coding RNA RNA, small nucleolar Approved Xq23 Xq23 "HBI-36|SNORA35A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 677816 ENSG00000208839 uc004epw.1 NR_002993 "15199136|16381836" SR0000370 HGNC:32625 +HGNC:52202 SNORA35B small nucleolar RNA, H/ACA box 35B non-coding RNA RNA, small nucleolar Approved Xq23 Xq23 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617004 ENSG00000271907 NR_145764 27174936 HGNC:52202 +HGNC:32628 SNORA36A small nucleolar RNA, H/ACA box 36A non-coding RNA RNA, small nucleolar Approved Xq28 Xq28 ACA36 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677817 ENSG00000206948 uc004fmn.4 AJ609463 NR_002969 "15199136|16381836" SR0000374 HGNC:32628 +HGNC:32629 SNORA36B small nucleolar RNA, H/ACA box 36B non-coding RNA RNA, small nucleolar Approved 1q41 01q41 ACA36b Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677818 ENSG00000222370 uc057pnx.1 NR_002994 "15199136|16381836" SR0000039 HGNC:32629 +HGNC:33616 SNORA36C small nucleolar RNA, H/ACA box 36C non-coding RNA RNA, small nucleolar Approved 2p14 02p14 small nucleolar RNA, H/ACA box 36C (retrotransposed) Small nucleolar RNAs, H/ACA box 846 2007-08-24 2012-06-21 2012-06-21 100124535 ENSG00000207016 uc061jzw.1 AM413012 NR_003705 RGD:2325445 SR0000465 HGNC:33616 +HGNC:32630 SNORA37 small nucleolar RNA, H/ACA box 37 non-coding RNA RNA, small nucleolar Approved 18q21.2 18q21.2 ACA37 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677819 ENSG00000207233 uc002lfi.1 AJ609444 NR_002970 "15199136|16381836" SR0000258 HGNC:32630 +HGNC:32631 SNORA38 small nucleolar RNA, H/ACA box 38 non-coding RNA RNA, small nucleolar Approved 6p21.33 06p21.33 ACA38 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677820 ENSG00000200816 uc003nvd.3 AJ609474 NR_002971 "15199136|16381836" SR0000334 HGNC:32631 +HGNC:33617 SNORA38B small nucleolar RNA, H/ACA box 38B non-coding RNA RNA, small nucleolar Approved 17q24.2 17q24.2 small nucleolar RNA, H/ACA box 38B (retrotransposed) Small nucleolar RNAs, H/ACA box 846 2007-08-24 2012-06-21 2012-06-21 100124536 ENSG00000200394 uc010dev.4 AM413013 NR_003706 SR0000466 HGNC:33617 +HGNC:32633 SNORA40 small nucleolar RNA, H/ACA box 40 non-coding RNA RNA, small nucleolar Approved 11q21 11q21 "ACA40|SNORA40A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 677822 ENSG00000210825 uc061nzg.1 AJ609445 NR_002973 "15199136|16381836" SR0000072 HGNC:32633 +HGNC:52204 SNORA40B small nucleolar RNA, H/ACA box 40B non-coding RNA RNA, small nucleolar Approved 2q21.3 02q21.3 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616967 ENSG00000208308 NR_145723 27174936 HGNC:52204 +HGNC:52205 SNORA40C small nucleolar RNA, H/ACA box 40C non-coding RNA RNA, small nucleolar Approved 6q21 06q21 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616968 ENSG00000212587 NR_145728 27174936 HGNC:52205 +HGNC:32634 SNORA41 small nucleolar RNA, H/ACA box 41 non-coding RNA RNA, small nucleolar Approved 2q33.3 02q33.3 "ACA41|SNORA41A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 619569 ENSG00000207406 uc002vbj.3 AJ609464 NR_002590 "15199136|16381836" SR0000279 HGNC:32634 +HGNC:52206 SNORA41B small nucleolar RNA, H/ACA box 41B non-coding RNA RNA, small nucleolar Approved 15q21.1 15q21.1 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617005 ENSG00000207516 NR_145777 27174936 HGNC:52206 +HGNC:32637 SNORA44 small nucleolar RNA, H/ACA box 44 non-coding RNA RNA, small nucleolar Approved 1p35.3 01p35.3 ACA44 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-02-03 677825 ENSG00000273544 uc057kxf.1 AJ609466 NR_002976 "15199136|16381836" SR0000007 HGNC:32637 +HGNC:32639 SNORA46 small nucleolar RNA, H/ACA box 46 non-coding RNA RNA, small nucleolar Approved 16q21 16q21 ACA46 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677827 ENSG00000207493 uc002eny.1 AJ609467 NR_002978 "15199136|16381836" SR0000221 HGNC:32639 +HGNC:32640 SNORA47 small nucleolar RNA, H/ACA box 47 non-coding RNA RNA, small nucleolar Approved 5q13.3 05q13.3 HBI-115 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677828 ENSG00000238961 uc003kew.1 NR_003014 "11387227|16381836" SR0000323 HGNC:32640 +HGNC:32641 SNORA48 small nucleolar RNA, H/ACA box 48 non-coding RNA RNA, small nucleolar Approved 17p13.1 17p13.1 "ACA48|SNORA48A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 652965 ENSG00000209582 uc002ghs.1 AJ609447 NR_002918 "15199136|16381836" SR0000228 HGNC:32641 +HGNC:52207 SNORA48B small nucleolar RNA, H/ACA box 48B non-coding RNA RNA, small nucleolar Approved Xp22.33 Xp22.33 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2017-01-27 109616969 ENSG00000212214 NR_145722 27174936 HGNC:52207 +HGNC:32642 SNORA49 small nucleolar RNA, H/ACA box 49 non-coding RNA RNA, small nucleolar Approved 12q24.33 12q24.33 ACA49 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677829 ENSG00000208892 uc001ujo.4 AJ609476 NR_002979 "15199136|16381836" SR0000082 HGNC:32642 +HGNC:32643 SNORA50A small nucleolar RNA, H/ACA box 50A non-coding RNA RNA, small nucleolar Approved 16q21 16q21 ACA50 "SNORA50|SNORA76A" "small nucleolar RNA, H/ACA box 50|small nucleolar RNA, H/ACA box 76A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-11-11 2015-11-11 2015-11-11 677830 ENSG00000206952 uc063eet.1 AJ609468 NR_002980 "15199136|16381836" SR0000222 HGNC:32643 +HGNC:50432 SNORA50B small nucleolar RNA, H/ACA box 50B non-coding RNA RNA, small nucleolar Approved 22q12.3 22q12.3 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2017-02-15 109616998 ENSG00000253007 NR_145833 27174936 HGNC:50432 +HGNC:32662 SNORA50C small nucleolar RNA, H/ACA box 50C non-coding RNA RNA, small nucleolar Approved 17q23.3 17q23.3 ACA62 "SNORA76|SNORA76C" "small nucleolar RNA, H/ACA box 76|small nucleolar RNA, H/ACA box 76C" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-11-11 2015-11-11 2015-11-11 677842 ENSG00000277887 uc059xfx.1 NR_002995 "15199136|16381836" SR0000249 HGNC:32662 +HGNC:50433 SNORA50D small nucleolar RNA, H/ACA box 50D non-coding RNA RNA, small nucleolar Approved 5q13.2 05q13.2 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616958 ENSG00000280894 NR_145732 27174936 HGNC:50433 +HGNC:32644 SNORA51 small nucleolar RNA, H/ACA box 51 non-coding RNA RNA, small nucleolar Approved 20p13 20p13 ACA51 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-02-03 677831 ENSG00000271798 uc064cwo.1 AJ609477 NR_002981 "15199136|16381836" SR0000286 HGNC:32644 +HGNC:32645 SNORA52 small nucleolar RNA, H/ACA box 52 non-coding RNA RNA, small nucleolar Approved 11p15.5 11p15.5 ACA52 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 619565 ENSG00000199785 uc001lrs.1 AJ609448 NR_002585 "15199136|16381836" SR0000044 HGNC:32645 +HGNC:32646 SNORA53 small nucleolar RNA, H/ACA box 53 non-coding RNA RNA, small nucleolar Approved 12q23.1 12q23.1 ACA53 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677832 ENSG00000212443 uc001tfu.2 NR_003015 "15199136|16381836" SR0000081 HGNC:32646 +HGNC:32647 SNORA54 small nucleolar RNA, H/ACA box 54 non-coding RNA RNA, small nucleolar Approved 11p15.4 11p15.4 ACA54 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677833 ENSG00000207008 uc001lxd.1 AJ609479 NR_002982 "15199136|16381836" SR0000045 HGNC:32647 +HGNC:32649 SNORA55 small nucleolar RNA, H/ACA box 55 non-coding RNA RNA, small nucleolar Approved 1p34.3 01p34.3 ACA55 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677834 ENSG00000201457 uc001cdo.2 AJ609480 NR_002983 "15199136|16381836" SR0000012 HGNC:32649 +HGNC:32650 SNORA56 small nucleolar RNA, H/ACA box 56 non-coding RNA RNA, small nucleolar Approved Xq28 Xq28 ACA56 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677835 ENSG00000206693 uc004fmo.3 AJ609449 NR_002984 "15199136|16381836" SR0000375 HGNC:32650 +HGNC:32651 SNORA57 small nucleolar RNA, H/ACA box 57 non-coding RNA RNA, small nucleolar Approved 11q12.2 11q12.2 U99 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 692158 ENSG00000206597 uc009yoa.1 AY349600 NR_004390 "15199136|16381836" SR0000053 HGNC:32651 +HGNC:32652 SNORA58 small nucleolar RNA, H/ACA box 58 non-coding RNA RNA, small nucleolar Approved 3q22.1 03q22.1 "ACA58|SNORA58B" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 677836 ENSG00000249020 uc057grz.1 AJ609450 NR_002985 "15199136|16381836" RGD:7489013 SR0000309 HGNC:32652 +HGNC:52208 SNORA58B small nucleolar RNA, H/ACA box 58B non-coding RNA RNA, small nucleolar Approved 1q21.3 01q21.3 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617023 ENSG00000201129 NR_145714 27174936 HGNC:52208 +HGNC:32653 SNORA59A small nucleolar RNA, H/ACA box 59A non-coding RNA RNA, small nucleolar Approved 1p36.21 01p36.21 ACA59 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677885 ENSG00000239149 uc001atz.1 AJ609481 NR_003025 "15199136|16381836" SR0000241 HGNC:32653 +HGNC:32658 SNORA59B small nucleolar RNA, H/ACA box 59B non-coding RNA RNA, small nucleolar Approved 17p11.2 17p11.2 ACA59 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2016-10-10 677882 ENSG00000266079 OTTHUMG00000178478 uc060cmc.1 NR_003022 "15199136|16381836" SR0000001 HGNC:32658 +HGNC:32654 SNORA60 small nucleolar RNA, H/ACA box 60 non-coding RNA RNA, small nucleolar Approved 20q11.23 20q11.23 ACA60 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677837 ENSG00000199266 uc061wyo.1 AJ609469 NR_002986 "15199136|16381836" SR0000296 HGNC:32654 +HGNC:32655 SNORA61 small nucleolar RNA, H/ACA box 61 non-coding RNA RNA, small nucleolar Approved 1p35.3 01p35.3 ACA61 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-02-03 677838 ENSG00000278274 uc001bqr.2 AJ609451 NR_002987 "15199136|16381836" SR0000006 HGNC:32655 +HGNC:10107 SNORA62 small nucleolar RNA, H/ACA box 62 non-coding RNA RNA, small nucleolar Approved 3p22.1 03p22.1 "E2|E2-1" "RNE2|RNU108" RNA, U108 small nucleolar Small nucleolar RNAs, H/ACA box 846 1993-06-18 2006-04-05 2006-04-05 2018-06-15 6044 ENSG00000202363 uc064krt.1 "L07383|L22739" NR_002324 "8421699|8415643|16381836" MGI:2148179 180646 SR0000305 HGNC:10107 +HGNC:10106 SNORA63 small nucleolar RNA, H/ACA box 63 non-coding RNA RNA, small nucleolar Approved 3q27.3 03q27.3 "E3|E3-2|SNORA63A" "RNE3|RNU107" RNA, U107 small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2015-10-28 6043 ENSG00000200320 uc062qoq.1 L07384 NR_002586 8421699 180647 SR0000315 HGNC:10106 +HGNC:52209 SNORA63B small nucleolar RNA, H/ACA box 63B non-coding RNA RNA, small nucleolar Approved 3q27.3 03q27.3 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617006 ENSG00000200418 NR_145766 27174936 HGNC:52209 +HGNC:52210 SNORA63C small nucleolar RNA, H/ACA box 63C non-coding RNA RNA, small nucleolar Approved 1p34.3 01p34.3 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616970 ENSG00000201448 NR_145725 27174936 HGNC:52210 +HGNC:52211 SNORA63D small nucleolar RNA, H/ACA box 63D non-coding RNA RNA, small nucleolar Approved 3q27.1 03q27.1 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616971 ENSG00000201229 NR_145727 27174936 HGNC:52211 +HGNC:52212 SNORA63E small nucleolar RNA, H/ACA box 63E non-coding RNA RNA, small nucleolar Approved 3q27.1 03q27.1 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617007 ENSG00000199363 NR_145763 27174936 HGNC:52212 +HGNC:10221 SNORA64 small nucleolar RNA, H/ACA box 64 non-coding RNA RNA, small nucleolar Approved 16p13.3 16p13.3 U64 RNU64 RNA, U64 small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2013-09-05 26784 ENSG00000207405 uc064bps.1 Y11158 NR_002326 "15199136|16381836" MGI:2148175 SR0000217 HGNC:10221 +HGNC:10222 SNORA65 small nucleolar RNA, H/ACA box 65 non-coding RNA RNA, small nucleolar Approved 9q33.3 09q33.3 U65 RNU65 RNA, U65 small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2013-09-05 26783 ENSG00000201302 uc004bra.2 Y11159 NR_002449 "9106664|15199136|16381836" SR0000358 HGNC:10222 +HGNC:10223 SNORA66 small nucleolar RNA, H/ACA box 66 non-coding RNA RNA, small nucleolar Approved 1p22.1 01p22.1 U66 RNU66 RNA, U66 small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2013-09-05 26782 ENSG00000207523 uc009wdi.1 Y11160 NR_002444 "15199136|16381836" SR0000021 HGNC:10223 +HGNC:10224 SNORA67 small nucleolar RNA, H/ACA box 67 non-coding RNA RNA, small nucleolar Approved 17p13.1 17p13.1 U67 RNU67 RNA, U67 small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2015-02-03 26781 ENSG00000277985 uc057npm.1 Y11161 NR_002912 "15199136|16381836" SR0000230 HGNC:10224 +HGNC:10225 SNORA68 small nucleolar RNA, H/ACA box 68 non-coding RNA RNA, small nucleolar Approved 19p13.11 19p13.11 "U68|SNORA68A" RNU68 RNA, U68 small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2015-10-28 26780 ENSG00000207166 uc060wru.1 Y11162 NR_000012 "9106664|9182768" SR0000262 HGNC:10225 +HGNC:52213 SNORA68B small nucleolar RNA, H/ACA box 68B non-coding RNA RNA, small nucleolar Approved 19q13.11 19q13.11 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616972 ENSG00000201388 NR_145718 27174936 HGNC:52213 +HGNC:10226 SNORA69 small nucleolar RNA, H/ACA box 69 non-coding RNA RNA, small nucleolar Approved Xq24 Xq24 U69 RNU69 RNA, U69 small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2013-09-05 26779 ENSG00000206622 uc004ery.1 Y11163 NR_002584 "9106664|15199136|16381836" SR0000371 HGNC:10226 +HGNC:10231 SNORA70 small nucleolar RNA, H/ACA box 70 non-coding RNA RNA, small nucleolar Approved Xq28 Xq28 "U70|DXS648E" RNU70 RNA, U70 small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2013-09-05 26778 ENSG00000207165 uc060tcj.1 Y11164 NR_000011 "9106664|15199136" SR0000373 HGNC:10231 +HGNC:33618 SNORA70B small nucleolar RNA, H/ACA box 70B non-coding RNA RNA, small nucleolar Approved 2p15 02p15 small nucleolar RNA, H/ACA box 70B (retrotransposed) Small nucleolar RNAs, H/ACA box 846 2007-08-24 2012-06-21 2012-06-21 100124537 ENSG00000206937 uc010fck.2 AM413014 NR_003707 SR0000468 HGNC:33618 +HGNC:33619 SNORA70C small nucleolar RNA, H/ACA box 70C non-coding RNA RNA, small nucleolar Approved 9q33.1 09q33.1 small nucleolar RNA, H/ACA box 70C (retrotransposed) Small nucleolar RNAs, H/ACA box 846 2007-08-24 2012-06-21 2012-06-21 100124538 ENSG00000207268 uc022bmp.2 AM413015 NR_003708 SR0000469 HGNC:33619 +HGNC:34356 SNORA70D small nucleolar RNA, H/ACA box 70D non-coding RNA RNA, small nucleolar Approved 16q22.3 16q22.3 U70D small nucleolar RNA, H/ACA box 70D (retrotransposed) Small nucleolar RNAs, H/ACA box 846 2008-07-02 2012-06-21 2015-02-03 100379141 ENSG00000263666 uc021tkx.1 NR_033337 SR0000470 HGNC:34356 +HGNC:34357 SNORA70E small nucleolar RNA, H/ACA box 70E non-coding RNA RNA, small nucleolar Approved 11q 11q U70E small nucleolar RNA, H/ACA box 70E (retrotransposed) Small nucleolar RNAs, H/ACA box 846 2008-07-02 2012-06-21 2012-06-21 100379250 ENSG00000207221 uc021qoe.1 NR_033347 SR0000471 HGNC:34357 +HGNC:34358 SNORA70F small nucleolar RNA, H/ACA box 70F non-coding RNA RNA, small nucleolar Approved 2q24.3 02q24.3 U70F small nucleolar RNA, H/ACA box 70F (retrotransposed) Small nucleolar RNAs, H/ACA box 846 2008-07-02 2012-06-21 2012-06-21 100337591 ENSG00000206869 uc021vrw.1 NR_033309 SR0000472 HGNC:34358 +HGNC:34359 SNORA70G small nucleolar RNA, H/ACA box 70G non-coding RNA RNA, small nucleolar Approved 12q14 12q14 U70G small nucleolar RNA, H/ACA box 70G (retrotransposed) Small nucleolar RNAs, H/ACA box 846 2008-07-02 2012-06-21 2012-06-21 100379132 ENSG00000206650 uc021rab.1 NR_033335 SR0000474 HGNC:34359 +HGNC:52214 SNORA70H small nucleolar RNA, H/ACA box 70H non-coding RNA RNA, small nucleolar Approved 1q32.1 01q32.1 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616993 ENSG00000206637 NR_145769 27174936 HGNC:52214 +HGNC:52215 SNORA70I small nucleolar RNA, H/ACA box 70I non-coding RNA RNA, small nucleolar Approved 2q35 02q35 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617008 ENSG00000207274 NR_145773 27174936 HGNC:52215 +HGNC:52216 SNORA70J small nucleolar RNA, H/ACA box 70J non-coding RNA RNA, small nucleolar Approved 5q35.1 05q35.1 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616973 ENSG00000206909 NR_145720 27174936 HGNC:52216 +HGNC:10232 SNORA71A small nucleolar RNA, H/ACA box 71A non-coding RNA RNA, small nucleolar Approved 20q11.23 20q11.23 U71a RNU71A RNA, U71A small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2015-02-03 26777 ENSG00000225091 uc002xim.2 Y11165 NR_002911 9106664 SR0000292 HGNC:10232 +HGNC:10233 SNORA71B small nucleolar RNA, H/ACA box 71B non-coding RNA RNA, small nucleolar Approved 20q11.23 20q11.23 U71b RNU71B RNA, U71B small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2015-02-03 26776 ENSG00000235408 OTTHUMG00000032446 uc002xik.3 Y11166 NR_002910 9106664 SR0000291 HGNC:10233 +HGNC:32656 SNORA71C small nucleolar RNA, H/ACA box 71C non-coding RNA RNA, small nucleolar Approved 20q11.23 20q11.23 U71c Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677839 ENSG00000201512 uc002xin.2 NR_003017 "15199136|16381836" SR0000293 HGNC:32656 +HGNC:32657 SNORA71D small nucleolar RNA, H/ACA box 71D non-coding RNA RNA, small nucleolar Approved 20q11.23 20q11.23 U71d Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677840 ENSG00000200354 uc002xio.2 NR_003018 "15199136|16381836" SR0000294 HGNC:32657 +HGNC:32632 SNORA71E small nucleolar RNA, H/ACA box 71E non-coding RNA RNA, small nucleolar Approved 20q11.23 20q11.23 ACA39 SNORA39 small nucleolar RNA, H/ACA box 39 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2014-04-25 2014-04-25 2015-02-03 677821 ENSG00000274309 AJ609475 NR_002972 "15199136|16381836" SR0000295 HGNC:32632 +HGNC:10234 SNORA72 small nucleolar RNA, H/ACA box 72 non-coding RNA RNA, small nucleolar Approved 8q22.2 08q22.2 U72 RNU72 RNA, U72 small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2013-09-05 26775 ENSG00000207067 uc062qai.1 Y11167 NR_002581 9106664 SR0000355 HGNC:10234 +HGNC:10115 SNORA73A small nucleolar RNA, H/ACA box 73A non-coding RNA RNA, small nucleolar Approved 1p36.1 01p36.1 "U17A|E1-7|E1b|E1" "RNE1|RNU17A" RNA, U17a small nucleolar Small nucleolar RNAs, H/ACA box 846 1993-08-24 2006-04-05 2006-04-05 2015-02-03 6080 ENSG00000274266 uc057dyl.1 "S63405|L16791|L07382" NR_002907 "8335005|8421699" 180645 SR0000003 HGNC:10115 +HGNC:10116 SNORA73B small nucleolar RNA, H/ACA box 73B non-coding RNA RNA, small nucleolar Approved 1p35.3 01p35.3 "U17B|E1c" "RNU17B|RNU105A" "RNA, U17b small nucleolar|RNA, U105A small nucleolar" Small nucleolar RNAs, H/ACA box 846 1993-08-24 2006-04-05 2006-04-05 2020-04-20 26768 ENSG00000200087 uc031tvk.2 L16792 NR_004406 8335005 603239 SR0000004 HGNC:10116 +HGNC:10119 SNORA74A small nucleolar RNA, H/ACA box 74A non-coding RNA RNA, small nucleolar Approved 5q31.2 05q31.2 U19 RNU19 RNA, U19 small nucleolar Small nucleolar RNAs, H/ACA box 846 1999-12-14 2006-04-05 2006-04-05 2013-09-05 26821 ENSG00000200959 uc003ldv.2 X94290 NR_002915 "8657112|9630250" SR0000327 HGNC:10119 +HGNC:32660 SNORA74B small nucleolar RNA, H/ACA box 74B non-coding RNA RNA, small nucleolar Approved 5q35.1 05q35.1 U19-2 Small nucleolar RNAs, H/ACA box 846 2016-01-13 2016-01-13 677841 ENSG00000212402 uc003mce.2 AM055743 NR_002988 "15199136|16381836|16361266" 611331 SR0000328 HGNC:32660 +HGNC:52217 SNORA74C-1 small nucleolar RNA, H/ACA box 74C-1 non-coding RNA RNA, small nucleolar Approved 10q11.23 10q11.23 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2017-05-12 109616974 ENSG00000265733 NR_145721 27174936 HGNC:52217 +HGNC:52218 SNORA74C-2 small nucleolar RNA, H/ACA box 74C-2 non-coding RNA RNA, small nucleolar Approved 10q11.23 10q11.23 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2021-08-17 109617009 ENSG00000288603 NR_145778 27174936 HGNC:52218 +HGNC:52219 SNORA74D small nucleolar RNA, H/ACA box 74D non-coding RNA RNA, small nucleolar Approved 5q31.2 05q31.2 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2017-02-15 109616975 ENSG00000252213 NR_145749 27174936 HGNC:52219 +HGNC:32661 SNORA75 small nucleolar RNA, H/ACA box 75 non-coding RNA RNA, small nucleolar Approved 2q37.1 02q37.1 "U23|SNORA75A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 654321 ENSG00000206885 uc062vkw.1 AJ007015 NR_002921 "15199136|16381836" SR0000280 HGNC:32661 +HGNC:52220 SNORA75B small nucleolar RNA, H/ACA box 75B non-coding RNA RNA, small nucleolar Approved 4p15.32 04p15.32 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616994 ENSG00000206780 NR_145770 27174936 HGNC:52220 +HGNC:32663 SNORA77 small nucleolar RNA, H/ACA box 77 non-coding RNA RNA, small nucleolar Approved 1q32.1 01q32.1 "ACA63|SNORA77A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 677843 ENSG00000221643 uc057bzj.1 NR_003019 "15199136|16381836" SR0000037 HGNC:32663 +HGNC:52221 SNORA77B small nucleolar RNA, H/ACA box 77B non-coding RNA RNA, small nucleolar Approved 22q11.21 22q11.21 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109617010 ENSG00000264346 NR_145765 27174936 HGNC:52221 +HGNC:32664 SNORA78 small nucleolar RNA, H/ACA box 78 non-coding RNA RNA, small nucleolar Approved 16p13.3 16p13.3 ACA64 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-02-03 677844 ENSG00000273587 uc002cns.1 NR_003020 "15199136|16381836" SR0000218 HGNC:32664 +HGNC:32665 SNORA79 small nucleolar RNA, H/ACA box 79 non-coding RNA RNA, small nucleolar Approved 14q31.1 14q31.1 "ACA65|SNORA79A" Small nucleolar RNAs, H/ACA box 846 2006-04-04 2015-10-28 677845 ENSG00000221303 uc001xvi.1 NR_003021 "15199136|16381836" SR0000088 HGNC:32665 +HGNC:52222 SNORA79B small nucleolar RNA, H/ACA box 79B non-coding RNA RNA, small nucleolar Approved 14q11.2 14q11.2 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616976 ENSG00000222489 NR_145735 27174936 HGNC:52222 +HGNC:32666 SNORA80A small nucleolar RNA, H/ACA box 80A non-coding RNA RNA, small nucleolar Approved 21q22.11 21q22.11 ACA67 SNORA80 small nucleolar RNA, H/ACA box 80 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2014-04-25 2014-04-25 2014-04-25 677846 ENSG00000200792 NR_002996 "15199136|16381836" SR0000299 HGNC:32666 +HGNC:34355 SNORA80B small nucleolar RNA, H/ACA box 80B non-coding RNA RNA, small nucleolar Approved 2p25.1 02p25.1 ACA67B Small nucleolar RNAs, H/ACA box 846 2008-07-02 2008-07-02 100302743 ENSG00000206633 uc021vdu.1 NR_028374 SR0000467 HGNC:34355 +HGNC:50434 SNORA80C small nucleolar RNA, H/ACA box 80C non-coding RNA RNA, small nucleolar Approved 16p11.2 16p11.2 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2016-11-18 109616959 ENSG00000199787 NR_145731 27174936 HGNC:50434 +HGNC:50435 SNORA80D small nucleolar RNA, H/ACA box 80D non-coding RNA RNA, small nucleolar Approved 7p22.1 07p22.1 Small nucleolar RNAs, H/ACA box 846 2016-11-18 2017-01-27 109616999 ENSG00000207217 NR_145771 27174936 HGNC:50435 +HGNC:32635 SNORA80E small nucleolar RNA, H/ACA box 80E non-coding RNA RNA, small nucleolar Approved 1q22 01q22 ACA42 SNORA42 small nucleolar RNA, H/ACA box 42 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2014-04-25 2014-04-25 2014-04-25 677823 ENSG00000207475 uc059tef.1 AJ609465 NR_002974 "15199136|16381836" SR0000024 HGNC:32635 +HGNC:32667 SNORA81 small nucleolar RNA, H/ACA box 81 non-coding RNA RNA, small nucleolar Approved 3q27.3 03q27.3 HBI-61 Small nucleolar RNAs, H/ACA box 846 2006-04-04 2013-09-05 677847 ENSG00000221420 uc062rfb.1 AM055745 NR_002989 "15199136|16381836|16361266" 611334 SR0000314 HGNC:32667 +HGNC:33615 SNORA84 small nucleolar RNA, H/ACA box 84 non-coding RNA RNA, small nucleolar Approved 9q22.31 09q22.31 Small nucleolar RNAs, H/ACA box 846 2007-08-24 2008-07-02 100124534 ENSG00000239183 uc064uhk.1 AM413009 NR_003704 SR0000475 HGNC:33615 +HGNC:50390 SNORA86 small nucleolar RNA, H/ACA box 86 non-coding RNA RNA, small nucleolar Approved 10p11.22 10p11.22 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106633814 NR_132768 25514182 HGNC:50390 +HGNC:50391 SNORA87 small nucleolar RNA, H/ACA box 87 non-coding RNA RNA, small nucleolar Approved 10q25.2 10q25.2 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635520 NR_132769 25514182 HGNC:50391 +HGNC:50392 SNORA88 small nucleolar RNA, H/ACA box 88 non-coding RNA RNA, small nucleolar Approved 11p13 11p13 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635521 NR_132770 25514182 HGNC:50392 +HGNC:50393 SNORA89 small nucleolar RNA, H/ACA box 89 non-coding RNA RNA, small nucleolar Approved 14q13.1 14q13.1 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635522 NR_132771 25514182 HGNC:50393 +HGNC:50394 SNORA90 small nucleolar RNA, H/ACA box 90 non-coding RNA RNA, small nucleolar Approved 17q12 17q12 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635523 NR_132772 25514182 HGNC:50394 +HGNC:50395 SNORA91 small nucleolar RNA, H/ACA box 91 non-coding RNA RNA, small nucleolar Approved 21q22.3 21q22.3 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635524 NR_132773 25514182 HGNC:50395 +HGNC:50396 SNORA92 small nucleolar RNA, H/ACA box 92 non-coding RNA RNA, small nucleolar Approved 22q13.1 22q13.1 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635525 NR_132774 25514182 HGNC:50396 +HGNC:50397 SNORA93 small nucleolar RNA, H/ACA box 93 non-coding RNA RNA, small nucleolar Approved 3p25.1 03p25.1 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635526 NR_132775 25514182 HGNC:50397 +HGNC:50398 SNORA94 small nucleolar RNA, H/ACA box 94 non-coding RNA RNA, small nucleolar Approved 3p21.31 03p21.31 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635528 NR_132776 25514182 HGNC:50398 +HGNC:50399 SNORA95 small nucleolar RNA, H/ACA box 95 non-coding RNA RNA, small nucleolar Approved 3p12.1 03p12.1 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635529 NR_132777 25514182 HGNC:50399 +HGNC:50402 SNORA98 small nucleolar RNA, H/ACA box 98 non-coding RNA RNA, small nucleolar Approved 6q24.2 06q24.2 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635530 NR_132778 25514182 HGNC:50402 +HGNC:50403 SNORA99 small nucleolar RNA, H/ACA box 99 non-coding RNA RNA, small nucleolar Approved 8p23.1 08p23.1 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635531 NR_132779 25514182 HGNC:50403 +HGNC:50404 SNORA100 small nucleolar RNA, H/ACA box 100 non-coding RNA RNA, small nucleolar Approved 1q44 01q44 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635532 NR_132782 25514182 HGNC:50404 +HGNC:50405 SNORA101A small nucleolar RNA, H/ACA box 101A non-coding RNA RNA, small nucleolar Approved 4q24 04q24 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2014-11-20 107399301 NR_135619 24174566 HGNC:50405 +HGNC:50406 SNORA101B small nucleolar RNA, H/ACA box 101B non-coding RNA RNA, small nucleolar Approved 14q13.2 14q13.2 ZL4 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 107399303 NR_135620 24174566 HGNC:50406 +HGNC:51395 SNORA103 small nucleolar RNA, H/ACA box 103 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635533 NR_132783 25514182 HGNC:51395 +HGNC:51396 SNORA104 small nucleolar RNA, H/ACA box 104 non-coding RNA RNA, small nucleolar Approved 19p13.12 19p13.12 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635534 NR_132784 25514182 HGNC:51396 +HGNC:51397 SNORA105A small nucleolar RNA, H/ACA box 105A non-coding RNA RNA, small nucleolar Approved 5p14.3 05p14.3 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635539 NR_132787 25514182 HGNC:51397 +HGNC:51398 SNORA105B small nucleolar RNA, H/ACA box 105B non-coding RNA RNA, small nucleolar Approved 2q33.1 02q33.1 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635540 NR_132788 25514182 HGNC:51398 +HGNC:51399 SNORA105C small nucleolar RNA, H/ACA box 105C non-coding RNA RNA, small nucleolar Approved 12q13.3 12q13.3 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635541 NR_132789 25514182 HGNC:51399 +HGNC:51400 SNORA107 small nucleolar RNA, H/ACA box 107 non-coding RNA RNA, small nucleolar Approved 13q31.1 13q31.1 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635542 NR_132852 25514182 HGNC:51400 +HGNC:51401 SNORA108 small nucleolar RNA, H/ACA box 108 non-coding RNA RNA, small nucleolar Approved 18q21.32 18q21.32 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635543 ENSG00000252284 NR_132963 25514182 HGNC:51401 +HGNC:51402 SNORA109 small nucleolar RNA, H/ACA box 109 non-coding RNA RNA, small nucleolar Approved Xp11.21 Xp11.21 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635544 NR_132964 25514182 HGNC:51402 +HGNC:51403 SNORA110 small nucleolar RNA, H/ACA box 110 non-coding RNA RNA, small nucleolar Approved 1p34.1 01p34.1 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635545 NR_132966 25514182 HGNC:51403 +HGNC:51404 SNORA111 small nucleolar RNA, H/ACA box 111 non-coding RNA RNA, small nucleolar Approved 18q12.2 18q12.2 Small nucleolar RNAs, H/ACA box 846 2014-11-20 2015-09-30 106635546 NR_132967 25514182 HGNC:51404 +HGNC:51850 SNORA112 small nucleolar RNA, H/ACA box 112 non-coding RNA RNA, small nucleolar Approved 2q11.2 02q11.2 Small nucleolar RNAs, H/ACA box 846 2015-09-18 2017-01-27 109623481 NR_145789 27174936 HGNC:51850 +HGNC:51851 SNORA113 small nucleolar RNA, H/ACA box 113 non-coding RNA RNA, small nucleolar Approved 12q15 12q15 Small nucleolar RNAs, H/ACA box 846 2015-09-18 2017-01-27 109623461 NR_145803 27174936 HGNC:51851 +HGNC:51852 SNORA114 small nucleolar RNA, H/ACA box 114 non-coding RNA RNA, small nucleolar Approved 7p22.3 07p22.3 Small nucleolar RNAs, H/ACA box 846 2015-09-18 2017-01-27 109623488 NR_145797 27174936 HGNC:51852 +HGNC:51853 SNORA115 small nucleolar RNA, H/ACA box 115 non-coding RNA RNA, small nucleolar Approved 2q35 02q35 Small nucleolar RNAs, H/ACA box 846 2015-09-18 2017-02-15 109623482 NR_145792 27174936 HGNC:51853 +HGNC:51854 SNORA116 small nucleolar RNA, H/ACA box 116 non-coding RNA RNA, small nucleolar Approved 6q25.3 06q25.3 Small nucleolar RNAs, H/ACA box 846 2015-09-18 2017-02-17 109623462 NR_145798 27174936 HGNC:51854 +HGNC:51855 SNORA117 small nucleolar RNA, H/ACA box 117 non-coding RNA RNA, small nucleolar Approved 20q13.33 20q13.33 Small nucleolar RNAs, H/ACA box 846 2015-09-18 2017-02-15 109623463 NR_145798 27174936 HGNC:51855 +HGNC:51856 SNORA118 small nucleolar RNA, H/ACA box 118 non-coding RNA RNA, small nucleolar Approved 19p13.11 19p13.11 Small nucleolar RNAs, H/ACA box 846 2015-09-18 2017-02-15 109623483 NR_145784 27174936 HGNC:51856 +HGNC:51857 SNORA119 small nucleolar RNA, H/ACA box 119 non-coding RNA RNA, small nucleolar Approved 16q24.3 16q24.3 Small nucleolar RNAs, H/ACA box 846 2015-09-18 2017-03-22 109623464 NR_145807 27174936 HGNC:51857 +HGNC:51858 SNORA120 small nucleolar RNA, H/ACA box 120 non-coding RNA RNA, small nucleolar Approved 12p13.31 12p13.31 Small nucleolar RNAs, H/ACA box 846 2015-09-18 2017-02-15 109729112 NR_145989 27174936 HGNC:51858 +HGNC:33763 SNORC secondary ossification center associated regulator of chondrocyte maturation protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "UNQ830|ASCL830" Small Novel Rich in Cartilage C2orf82 chromosome 2 open reading frame 82 2008-07-18 2017-10-30 2017-10-30 2017-10-30 389084 ENSG00000182600 OTTHUMG00000133273 uc061tsf.1 "AY358535|BC035093" NM_206895 CCDS2499 Q6UX34 "12975309|21624478|28323137" MGI:1920484 RGD:1311447 HGNC:33763 +HGNC:32556 SNORD1A small nucleolar RNA, C/D box 1A non-coding RNA RNA, small nucleolar Approved 17q25.1 17q25.1 "R38A|snR38A" Small nucleolar RNAs, C/D box 845 2006-04-05 2015-02-03 677848 ENSG00000278261 uc060kky.1 AJ543324 NR_004395 14960365 SR0000252 HGNC:32556 +HGNC:32676 SNORD1B small nucleolar RNA, C/D box 1B non-coding RNA RNA, small nucleolar Approved 17q25.1 17q25.1 "R38B|snR38B" Small nucleolar RNAs, C/D box 845 2006-04-05 2013-09-05 677849 ENSG00000199961 uc010dgy.2 AJ543325 NR_004396 14960365 SR0000251 HGNC:32676 +HGNC:32677 SNORD1C small nucleolar RNA, C/D box 1C non-coding RNA RNA, small nucleolar Approved 17q25.1 17q25.1 "R38C|snR38C" Small nucleolar RNAs, C/D box 845 2006-04-05 2015-02-03 677850 ENSG00000274091 uc060kkx.1 AJ543326 NR_004397 14960365 SR0000250 HGNC:32677 +HGNC:32678 SNORD2 small nucleolar RNA, C/D box 2 non-coding RNA RNA, small nucleolar Approved 3q27.3 03q27.3 "R39B|snR39B" Small nucleolar RNAs, C/D box 845 2006-04-05 2013-09-05 619567 ENSG00000238942 uc057tjj.1 NR_002587 14960365 SR0000313 HGNC:32678 +HGNC:33189 SNORD3A small nucleolar RNA, C/D box 3A non-coding RNA RNA, small nucleolar Approved 17p11.2 17p11.2 "U3|RNU3" "U3 snoRNA A|U3 small nucleolar RNA A" Small nucleolar RNAs, C/D box 845 2006-11-28 2018-08-23 780851 ENSG00000263934 OTTHUMG00000178445 uc021trx.2 NR_006880 9365252 180710 SR0000239 HGNC:33189 +HGNC:10168 SNORD3B-1 small nucleolar RNA, C/D box 3B-1 non-coding RNA RNA, small nucleolar Approved 17p11.2 17p11.2 "U3a|U3b1|U3b2" "U3 snoRNA B-1|U3 small nucleolar RNA B-1" RNU3A1 RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-11-28 2006-11-28 2017-02-02 26851 ENSG00000265185 OTTHUMG00000178499 uc060cic.1 "AF020534|AF020533|AF020532" NR_003271 9365252 SR0000236 HGNC:10168 +HGNC:33190 SNORD3B-2 small nucleolar RNA, C/D box 3B-2 non-coding RNA RNA, small nucleolar Approved 17p11.2 17p11.2 "U3-2B|U3b2" "U3 snoRNA B-2|U3 small nucleolar RNA B-2" Small nucleolar RNAs, C/D box 845 2006-11-28 2017-02-02 780852 ENSG00000262074 OTTHUMG00000178152 uc060cid.1 NR_003924 9365252 SR0000237 HGNC:33190 +HGNC:33191 SNORD3C small nucleolar RNA, C/D box 3C non-coding RNA RNA, small nucleolar Approved 17p11.2 17p11.2 "U3-3|RNU3-3" "U3 snoRNA C|U3 small nucleolar RNA C" Small nucleolar RNAs, C/D box 845 2006-11-28 2017-02-02 780853 ENSG00000264940 OTTHUMG00000178446 uc021try.2 NR_006881 9365252 SR0000240 HGNC:33191 +HGNC:33192 SNORD3D small nucleolar RNA, C/D box 3D non-coding RNA RNA, small nucleolar Approved 17p11.2 17p11.2 "U3-4|RNU3-4" "U3 snoRNA D|U3 small nucleolar RNA D" Small nucleolar RNAs, C/D box 845 2006-11-28 2017-02-02 780854 ENSG00000277947 uc060cim.1 NR_006882 9365252 SR0000238 HGNC:33192 +HGNC:52238 SNORD3E small nucleolar RNA, C/D box 3E non-coding RNA RNA, small nucleolar Approved Xq13.1 Xq13.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617015 ENSG00000280704 NR_145758 27174936 HGNC:52238 +HGNC:52239 SNORD3F small nucleolar RNA, C/D box 3F non-coding RNA RNA, small nucleolar Approved 8p21.3 08p21.3 "U3|U3.2" "SNORD3P2|RNU3P2" "small nucleolar RNA, C/D box 3 pseudogene 2|RNA, U3 small nucleolar pseudogene 2" Small nucleolar RNAs, C/D box 845 2016-11-18 2020-04-08 109616983 NR_145737 27174936 HGNC:52239 +HGNC:52240 SNORD3G small nucleolar RNA, C/D box 3G non-coding RNA RNA, small nucleolar Approved 1p22.2 01p22.2 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616984 ENSG00000199666 NR_145742 27174936 HGNC:52240 +HGNC:52241 SNORD3H small nucleolar RNA, C/D box 3H non-coding RNA RNA, small nucleolar Approved 8q22.1 08q22.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617016 ENSG00000207215 NR_145760 27174936 HGNC:52241 +HGNC:52242 SNORD3I small nucleolar RNA, C/D box 3I non-coding RNA RNA, small nucleolar Approved 8p23.1 08p23.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616996 NR_145772 27174936 HGNC:52242 +HGNC:52243 SNORD3J small nucleolar RNA, C/D box 3J non-coding RNA RNA, small nucleolar Approved 10q11.21 10q11.21 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616985 ENSG00000221400 NR_145740 27174936 HGNC:52243 +HGNC:52244 SNORD3K small nucleolar RNA, C/D box 3K non-coding RNA RNA, small nucleolar Approved 2q31.1 02q31.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617017 NR_145754 27174936 HGNC:52244 +HGNC:10175 SNORD3P1 small nucleolar RNA, C/D box 3 pseudogene 1 pseudogene pseudogene Approved 15q21.3 15q21.3 U3 RNU3P1 RNA, U3 small nucleolar pseudogene 1 1993-06-08 2017-02-02 2017-02-02 2020-04-07 6068 ENSG00000200318 X14946 NG_001185 2719960 HGNC:10175 +HGNC:10177 SNORD3P3 small nucleolar RNA, C/D box 3 pseudogene 3 pseudogene pseudogene Approved 14q31.3 14q31.3 "U3|U3.5|u3.7" RNU3P3 RNA, U3 small nucleolar pseudogene 3 1999-12-14 2017-02-02 2017-02-02 2017-02-02 26843 K00774 NG_001254 "6186397|6173130" HGNC:10177 +HGNC:10178 SNORD3P4 small nucleolar RNA, C/D box 3 pseudogene 4 pseudogene pseudogene Approved 3q27.3 03q27.3 "U3|U3.6" RNU3P4 RNA, U3 small nucleolar pseudogene 4 1999-12-14 2017-02-02 2017-02-02 2017-02-02 26842 K00775 NG_001253 6186397 HGNC:10178 +HGNC:10097 SNORD4A small nucleolar RNA, C/D box 4A non-coding RNA RNA, small nucleolar Approved 17q11 17q11 "Z17A|mgh18S-121" RNU101A RNA, U101A small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-04-20 2006-04-20 2013-09-05 26773 ENSG00000238578 uc002hcl.2 AJ224024 NR_000010 9417910 SR0000243 HGNC:10097 +HGNC:10098 SNORD4B small nucleolar RNA, C/D box 4B non-coding RNA RNA, small nucleolar Approved 17q11 17q11 Z17B RNU101B RNA, U101B small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-04-20 2006-04-20 2013-09-05 26772 ENSG00000238597 uc060ddt.1 AJ224025 NR_000009 9417910 SR0000376 HGNC:10098 +HGNC:32702 SNORD5 small nucleolar RNA, C/D box 5 non-coding RNA RNA, small nucleolar Approved 11q21 11q21 mgh28S-2410 Small nucleolar RNAs, C/D box 845 2006-04-25 2013-09-05 692072 ENSG00000239195 uc064quc.1 AJ609488 NR_003033 15199136 SR0000070 HGNC:32702 +HGNC:32703 SNORD6 small nucleolar RNA, C/D box 6 non-coding RNA RNA, small nucleolar Approved 11q21 11q21 mgh28S-2412 Small nucleolar RNAs, C/D box 845 2006-04-27 2013-09-05 692075 ENSG00000202314 uc058gnj.1 AJ609489 NR_003036 15199136 SR0000067 HGNC:32703 +HGNC:32704 SNORD7 small nucleolar RNA, C/D box 7 non-coding RNA RNA, small nucleolar Approved 17q12 17q12 "Z30|mgU6-47" Small nucleolar RNAs, C/D box 845 2006-04-27 2018-06-15 692076 ENSG00000207297 uc002hjo.1 AJ007733 NR_003037 11842100 SR0000245 HGNC:32704 +HGNC:20159 SNORD8 small nucleolar RNA, C/D box 8 non-coding RNA RNA, small nucleolar Approved 14q11.2 14q11.2 mgU6-53 RNU6C RNA, U6C small nucleolar Small nucleolar RNAs, C/D box 845 2003-01-13 2006-04-27 2006-04-27 2013-09-05 319103 ENSG00000200785 uc001wau.2 AJ243222 NR_002916 10490628 618943 SR0000087 HGNC:20159 +HGNC:32705 SNORD9 small nucleolar RNA, C/D box 9 non-coding RNA RNA, small nucleolar Approved 14q11.2 14q11.2 mgU6-53B Small nucleolar RNAs, C/D box 845 2006-04-27 2013-09-05 692053 ENSG00000199436 uc001wat.2 NR_003029.2 10490628 SR0000086 HGNC:32705 +HGNC:32706 SNORD10 small nucleolar RNA, C/D box 10 non-coding RNA RNA, small nucleolar Approved 17p13.1 17p13.1 mgU6-77 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 652966 ENSG00000238917 uc060arw.1 NR_002604.2 SR0000229 HGNC:32706 +HGNC:32707 SNORD11 small nucleolar RNA, C/D box 11 non-coding RNA RNA, small nucleolar Approved 2q33.1 02q33.1 HBII-95 Small nucleolar RNAs, C/D box 845 2006-04-27 2007-08-01 2007-08-01 2013-09-05 692058 ENSG00000238317 uc002uzd.1 NR_003031 11387227 SR0000277 HGNC:32707 +HGNC:33571 SNORD11B small nucleolar RNA, C/D box 11B non-coding RNA RNA, small nucleolar Approved 2q33.1 02q33.1 Small nucleolar RNAs, C/D box 845 2007-07-31 2015-02-03 100113392 ENSG00000271852 uc010ftq.2 AM413022 NR_003694 SR0000478 HGNC:33571 +HGNC:32708 SNORD12 small nucleolar RNA, C/D box 12 non-coding RNA RNA, small nucleolar Approved 20q13.13 20q13.13 "HBII-99|hsa-mir-1259" "MIR1259|MIRN1259" microRNA 1259 Small nucleolar RNAs, C/D box 845 2006-04-27 2014-11-19 692057 ENSG00000212304 uc002xup.1 NR_003030 11387227 SR0000298 HGNC:32708 +HGNC:33573 SNORD12B small nucleolar RNA, C/D box 12B non-coding RNA RNA, small nucleolar Approved 19p13.2 19p13.2 Small nucleolar RNAs, C/D box 845 2007-07-31 2010-07-02 100113393 ENSG00000222365 uc010gia.2 AM413026 NR_003695 SR0000480 HGNC:33573 +HGNC:10105 SNORD12C small nucleolar RNA, C/D box 12C non-coding RNA RNA, small nucleolar Approved 20q13.13 20q13.13 U106 "RNU106|SNORD106" "RNA, U106 small nucleolar|small nucleolar RNA, C/D box 106" Small nucleolar RNAs, C/D box 845 1999-12-14 2007-07-31 2007-07-31 2013-09-05 26765 ENSG00000209042 uc010ghz.4 AY349607 NR_002433 14602913 SR0000297 HGNC:10105 +HGNC:32711 SNORD13 small nucleolar RNA, C/D box 13 non-coding RNA RNA, small nucleolar Approved 8p12 08p12 "U13|RNU13|SNORD13A" Small nucleolar RNAs, C/D box 845 2006-05-02 2015-11-11 692084 ENSG00000239039 uc033bhd.1 NR_003041 2531075 616664 SR0000352 HGNC:32711 +HGNC:52250 SNORD13B-1 small nucleolar RNA, C/D box 13B-1 non-coding RNA RNA, small nucleolar Approved 5q13.2 05q13.2 Small nucleolar RNAs, C/D box 845 2016-11-18 2019-01-30 109617019 NR_145987 27174936 HGNC:52250 +HGNC:52251 SNORD13B-2 small nucleolar RNA, C/D box 13B-2 non-coding RNA RNA, small nucleolar Approved 5q13.2 05q13.2 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617021 NR_145756 27174936 HGNC:52251 +HGNC:52252 SNORD13C small nucleolar RNA, C/D box 13C non-coding RNA RNA, small nucleolar Approved 1q21.2 01q21.2 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616989 NR_145745 27174936 HGNC:52252 +HGNC:52253 SNORD13D small nucleolar RNA, C/D box 13D non-coding RNA RNA, small nucleolar Approved 15q21.3 15q21.3 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616990 ENSG00000239035 NR_145748 27174936 HGNC:52253 +HGNC:52254 SNORD13E small nucleolar RNA, C/D box 13E non-coding RNA RNA, small nucleolar Approved 15q22.31 15q22.31 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617020 ENSG00000238311 NR_145750 27174936 HGNC:52254 +HGNC:52245 SNORD13F small nucleolar RNA, C/D box 13F non-coding RNA RNA, small nucleolar Approved 11q13.1 11q13.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616986 NR_145738 27174936 HGNC:52245 +HGNC:52246 SNORD13G small nucleolar RNA, C/D box 13G non-coding RNA RNA, small nucleolar Approved 13q32.1 13q32.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616987 NR_145733 27174936 HGNC:52246 +HGNC:52247 SNORD13H small nucleolar RNA, C/D box 13H non-coding RNA RNA, small nucleolar Approved 16q22.1 16q22.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617018 NR_145753 27174936 HGNC:52247 +HGNC:52248 SNORD13I small nucleolar RNA, C/D box 13I non-coding RNA RNA, small nucleolar Approved 11q22.1 11q22.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616988 NR_145747 27174936 HGNC:52248 +HGNC:52249 SNORD13J small nucleolar RNA, C/D box 13J non-coding RNA RNA, small nucleolar Approved 3p21.31 03p21.31 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617025 NR_145712 27174936 HGNC:52249 +HGNC:10110 SNORD13P1 small nucleolar RNA, C/D box 13 pseudogene 1 pseudogene pseudogene Approved 22q13.2 22q13.2 "U13|U13.32A" RNU13P1 RNA, U13 small nuclear pseudogene 1 1992-02-12 2010-02-02 2011-08-22 2015-02-09 6076 ENSG00000238498 uc062etu.1 X58061 NG_008259 1748306 HGNC:10110 +HGNC:10111 SNORD13P2 small nucleolar RNA, C/D box 13 pseudogene 2 pseudogene pseudogene Approved 7p22.1 07p22.1 "U13|U13.12A" RNU13P2 RNA, U13 small nuclear pseudogene 2 1992-02-12 2010-02-02 2010-02-02 2011-08-22 6077 X58060 NG_008260 1748306 HGNC:10111 +HGNC:10112 SNORD13P3 small nucleolar RNA, C/D box 13 pseudogene 3 pseudogene pseudogene Approved 3p21.31 03p21.31 "U13|U13.4B" RNU13P3 RNA, U13 small nuclear pseudogene 3 1992-02-12 2010-02-02 2010-02-02 2015-11-11 6078 ENSG00000239128 uc062jck.1 X58062 NG_008261 1748306 HGNC:10112 +HGNC:10113 SNORD14A small nucleolar RNA, C/D box 14A non-coding RNA RNA, small nucleolar Approved 11p15.1 11p15.1 "U14|RNU14A" RNU14 RNA, U14 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-02 2006-05-02 2015-02-03 26822 ENSG00000272034 uc021qei.3 D88010 NR_000022 8920921 SR0000051 HGNC:10113 +HGNC:31803 SNORD14B small nucleolar RNA, C/D box 14B non-coding RNA RNA, small nucleolar Approved 11p15.1 11p15.1 "U14B|U14" RNU14B RNA, U14B small nucleolar Small nucleolar RNAs, C/D box 845 2004-08-26 2006-05-02 2006-05-02 2013-09-05 85388 ENSG00000201403 uc057zln.1 D88010 NR_001452 8920921 SR0000050 HGNC:31803 +HGNC:30352 SNORD14C small nucleolar RNA, C/D box 14C non-coding RNA RNA, small nucleolar Approved 11q23.3-q25 11q23.3-q25 Small nucleolar RNAs, C/D box 845 2009-08-11 2010-03-29 85389 ENSG00000202252 uc031yig.1 Y00371 NR_001453 "2251119|3037489" HGNC:30352 +HGNC:30353 SNORD14D small nucleolar RNA, C/D box 14D non-coding RNA RNA, small nucleolar Approved 11q23.3-q25 11q23.3-q25 Small nucleolar RNAs, C/D box 845 2009-08-11 2009-08-11 85390 ENSG00000207118 uc031yif.1 Y00371 NR_001454 "2251119|3037489" HGNC:30353 +HGNC:30354 SNORD14E small nucleolar RNA, C/D box 14E non-coding RNA RNA, small nucleolar Approved 11q23.3-q25 11q23.3-q25 Small nucleolar RNAs, C/D box 845 2009-08-11 2010-03-29 85391 ENSG00000200879 uc031yie.2 Y00371 NR_001455 "2251119|3037489" HGNC:30354 +HGNC:10114 SNORD15A small nucleolar RNA, C/D box 15A non-coding RNA RNA, small nucleolar Approved 11q13.4 11q13.4 U15A RNU15A RNA, U15a small nucleolar Small nucleolar RNAs, C/D box 845 1994-07-05 2006-05-02 2006-05-02 2013-09-05 6079 ENSG00000206941 uc001owj.1 L15616 NR_000005 "7789996|8319909" 600455 SR0000062 HGNC:10114 +HGNC:16649 SNORD15B small nucleolar RNA, C/D box 15B non-coding RNA RNA, small nucleolar Approved 11q13.4 11q13.4 U15B RNU15B RNA, U15b small nucleolar Small nucleolar RNAs, C/D box 845 2001-09-21 2006-05-02 2006-05-02 2013-09-05 114599 ENSG00000207445 uc001owl.1 L15557 NR_000025 "7789996|8319909" SR0000063 HGNC:16649 +HGNC:32712 SNORD16 small nucleolar RNA, C/D box 16 non-coding RNA RNA, small nucleolar Approved 15q22.31 15q22.31 U16 Small nucleolar RNAs, C/D box 845 2006-05-02 2013-09-05 595097 ENSG00000199673 uc059knp.1 NR_002440 8335006 SR0000213 HGNC:32712 +HGNC:32713 SNORD17 small nucleolar RNA, C/D box 17 non-coding RNA RNA, small nucleolar Approved 20p11.23 20p11.23 HBI-43 Small nucleolar RNAs, C/D box 845 2006-05-02 2013-09-05 692086 ENSG00000212232 uc002wqf.1 NR_003045 11387227 SR0000290 HGNC:32713 +HGNC:32714 SNORD18A small nucleolar RNA, C/D box 18A non-coding RNA RNA, small nucleolar Approved 15q22.31 15q22.31 U18A Small nucleolar RNAs, C/D box 845 2006-05-02 2013-09-05 595098 ENSG00000200623 uc059knr.1 NR_002441 "7507233|8674114" SR0000214 HGNC:32714 +HGNC:32715 SNORD18B small nucleolar RNA, C/D box 18B non-coding RNA RNA, small nucleolar Approved 15q22.31 15q22.31 U18B Small nucleolar RNAs, C/D box 845 2006-05-02 2013-09-05 595099 ENSG00000202529 uc059knn.1 NR_002442 "7507233|8674114" SR0000212 HGNC:32715 +HGNC:32716 SNORD18C small nucleolar RNA, C/D box 18C non-coding RNA RNA, small nucleolar Approved 15q22.31 15q22.31 U18C Small nucleolar RNAs, C/D box 845 2006-05-02 2013-09-05 595100 ENSG00000199574 uc059kni.1 NR_002443 "7507233|8674114" SR0000211 HGNC:32716 +HGNC:32717 SNORD19 small nucleolar RNA, C/D box 19 non-coding RNA RNA, small nucleolar Approved 3p21.1 03p21.1 HBII-108 Small nucleolar RNAs, C/D box 845 2006-05-02 2007-08-01 2007-08-01 2013-09-05 692089 ENSG00000212493 uc003dfg.2 AC104446 NR_003047 11387227 SR0000306 HGNC:32717 +HGNC:33570 SNORD19B small nucleolar RNA, C/D box 19B non-coding RNA RNA, small nucleolar Approved 3p21.1 03p21.1 Small nucleolar RNAs, C/D box 845 2007-07-31 2008-07-02 100113381 ENSG00000238862 uc062koq.1 AM413023 NR_003687 SR0000484 HGNC:33570 +HGNC:52224 SNORD19C small nucleolar RNA, C/D box 19C non-coding RNA RNA, small nucleolar Approved 3p21.1 03p21.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616991 ENSG00000222345 NR_145744 27174936 HGNC:52224 +HGNC:10143 SNORD20 small nucleolar RNA, C/D box 20 non-coding RNA RNA, small nucleolar Approved 2q37.1 02q37.1 U20 RNU20 RNA, U20 small nucleolar Small nucleolar RNAs, C/D box 845 1994-12-20 2006-05-02 2006-05-02 2006-05-02 6082 ENSG00000207280 uc002vrw.1 Z34290 NR_002908 8065311 604012 SR0000281 HGNC:10143 +HGNC:10144 SNORD21 small nucleolar RNA, C/D box 21 non-coding RNA RNA, small nucleolar Approved 1p22.1 01p22.1 U21 RNU21 RNA, U21 small nucleolar Small nucleolar RNAs, C/D box 845 1995-09-07 2006-05-02 2006-05-02 2006-05-02 6083 ENSG00000206680 uc001dpe.2 Z35312 NR_000006 7937132 603635 SR0000020 HGNC:10144 +HGNC:10145 SNORD22 small nucleolar RNA, C/D box 22 non-coding RNA RNA, small nucleolar Approved 11q13 11q13 U22 RNU22 RNA, U22 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-02 2006-05-02 2015-02-03 9304 ENSG00000277194 uc001nvv.2 NR_000008 "9387929|8559254" 603223 SR0000054 HGNC:10145 +HGNC:32718 SNORD23 small nucleolar RNA, C/D box 23 non-coding RNA RNA, small nucleolar Approved 19q13.32 19q13.32 HBII-115 Small nucleolar RNAs, C/D box 845 2006-05-02 2006-05-02 2013-09-05 692091 ENSG00000221803 uc060ntz.1 AC008745 NR_003048 11387227 SR0000263 HGNC:32718 +HGNC:10146 SNORD24 small nucleolar RNA, C/D box 24 non-coding RNA RNA, small nucleolar Approved 9q34.2 09q34.2 U24 RNU24 RNA, U24 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-02 2006-05-02 2013-09-05 26820 ENSG00000206611 uc010nah.3 Z48765 NR_002447 8482538 SR0000361 HGNC:10146 +HGNC:10147 SNORD25 small nucleolar RNA, C/D box 25 non-coding RNA RNA, small nucleolar Approved 11q13 11q13 U25 RNU25 RNA, U25 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2015-02-03 9303 ENSG00000275043 uc058cpm.1 AF081279 NR_002565 9387929 603224 SR0000061 HGNC:10147 +HGNC:10148 SNORD26 small nucleolar RNA, C/D box 26 non-coding RNA RNA, small nucleolar Approved 11q12.3 11q12.3 U26 RNU26 RNA, U26 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2015-02-03 9302 ENSG00000276788 uc009yok.1 NR_002564 8559254 603225 SR0000060 HGNC:10148 +HGNC:10149 SNORD27 small nucleolar RNA, C/D box 27 non-coding RNA RNA, small nucleolar Approved 11q12.3 11q12.3 U27 RNU27 RNA, U27 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2015-02-03 9301 ENSG00000275996 uc058vuv.1 NR_002563 8559254 603226 SR0000059 HGNC:10149 +HGNC:10150 SNORD28 small nucleolar RNA, C/D box 28 non-coding RNA RNA, small nucleolar Approved 11q12.3 11q12.3 "U28|SNORD28A" RNU28 RNA, U28 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2015-10-28 9300 ENSG00000274544 uc063sly.1 U40580 NR_002562 8559254 603227 SR0000058 HGNC:10150 +HGNC:52225 SNORD28B small nucleolar RNA, C/D box 28B non-coding RNA RNA, small nucleolar Approved 6q25.3 06q25.3 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617011 ENSG00000212295 NR_145751 27174936 HGNC:52225 +HGNC:10151 SNORD29 small nucleolar RNA, C/D box 29 non-coding RNA RNA, small nucleolar Approved 11q12.3 11q12.3 U29 RNU29 RNA, U29 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2015-01-29 9297 uc063cpk.1 U40580 NR_002559 8559254 603228 SR0000057 HGNC:10151 +HGNC:10157 SNORD30 small nucleolar RNA, C/D box 30 non-coding RNA RNA, small nucleolar Approved 11q12.3 11q12.3 U30 RNU30 RNA, U30 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2015-02-03 9299 ENSG00000277846 uc065aud.1 U40580 NR_002561 8559254 603229 SR0000056 HGNC:10157 +HGNC:10158 SNORD31 small nucleolar RNA, C/D box 31 non-coding RNA RNA, small nucleolar Approved 11q12.3 11q12.3 "U31|SNORD31A" RNU31 RNA, U31 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2015-10-28 9298 uc021rmj.1 U40580 NR_002560 8559254 603230 SR0000055 HGNC:10158 +HGNC:52226 SNORD31B small nucleolar RNA, C/D box 31B non-coding RNA RNA, small nucleolar Approved 13q33.3 13q33.3 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616978 ENSG00000201847 NR_145739 27174936 HGNC:52226 +HGNC:10159 SNORD32A small nucleolar RNA, C/D box 32A non-coding RNA RNA, small nucleolar Approved 19q13.33 19q13.33 "U32|U32A" RNU32 RNA, U32 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26819 ENSG00000201675 uc061bed.1 X94598 NR_000021 MGI:1351324 SR0000264 HGNC:10159 +HGNC:32719 SNORD32B small nucleolar RNA, C/D box 32B non-coding RNA RNA, small nucleolar Approved 6p22.1 06p22.1 U32B Small nucleolar RNAs, C/D box 845 2006-05-03 2013-09-05 692092 ENSG00000201330 uc003nmq.4 AL645936 NR_003049 8764399 SR0000331 HGNC:32719 +HGNC:10160 SNORD33 small nucleolar RNA, C/D box 33 non-coding RNA RNA, small nucleolar Approved 19q13.33 19q13.33 U33 RNU33 RNA, U33 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26818 ENSG00000199631 uc061bef.1 X94599 NR_000020 "8764399|10580157" MGI:1351323 SR0000265 HGNC:10160 +HGNC:10161 SNORD34 small nucleolar RNA, C/D box 34 non-coding RNA RNA, small nucleolar Approved 19q13.33 19q13.33 U34 RNU34 RNA, U34 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26817 ENSG00000202503 uc061bei.1 X94600 NR_000019 MGI:1351325 SR0000266 HGNC:10161 +HGNC:10162 SNORD35A small nucleolar RNA, C/D box 35A non-coding RNA RNA, small nucleolar Approved 19q13.33 19q13.33 "U35|RNU35A" RNU35 RNA, U35 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26816 ENSG00000200259 uc010enb.1 X94601 NR_000018 8764399 SR0000267 HGNC:10162 +HGNC:17365 SNORD35B small nucleolar RNA, C/D box 35B non-coding RNA RNA, small nucleolar Approved 19q13.33 19q13.33 U35B RNU35B RNA, U35B small nucleolar Small nucleolar RNAs, C/D box 845 2003-02-27 2006-05-03 2006-05-03 2013-09-05 84546 ENSG00000200530 uc061beq.1 AB028893 NR_001285 10580157 MGI:1351321 SR0000268 HGNC:17365 +HGNC:10163 SNORD36A small nucleolar RNA, C/D box 36A non-coding RNA RNA, small nucleolar Approved 9q34.2 09q34.2 U36a RNU36A RNA, U36A small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26815 ENSG00000199744 uc064wur.1 AJ003040 NR_002448 9703018 SR0000363 HGNC:10163 +HGNC:10164 SNORD36B small nucleolar RNA, C/D box 36B non-coding RNA RNA, small nucleolar Approved 9q34.2 09q34.2 U36b RNU36B RNA, U36B small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26814 ENSG00000200831 uc064wuq.1 AJ003039 NR_000017 9703018 SR0000362 HGNC:10164 +HGNC:10165 SNORD36C small nucleolar RNA, C/D box 36C non-coding RNA RNA, small nucleolar Approved 9q34.2 09q34.2 U36c RNU36C RNA, U36C small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26813 ENSG00000252542 uc010nak.4 AJ003041 NR_000016 9703018 SR0000364 HGNC:10165 +HGNC:10166 SNORD37 small nucleolar RNA, C/D box 37 non-coding RNA RNA, small nucleolar Approved 19p13.3 19p13.3 U37 RNU37 RNA, U37 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26812 ENSG00000206775 uc002lzf.1 X94602 NR_002602 8764399 SR0000259 HGNC:10166 +HGNC:30355 SNORD38A small nucleolar RNA, C/D box 38A non-coding RNA RNA, small nucleolar Approved 1p34.1 01p34.1 U38A RNU38A RNA, U38A small nucleolar Small nucleolar RNAs, C/D box 845 2004-05-20 2006-05-03 2006-05-03 2010-03-29 94162 ENSG00000202031 uc009vxi.4 NR_001456 8764399 SR0000015 HGNC:30355 +HGNC:30356 SNORD38B small nucleolar RNA, C/D box 38B non-coding RNA RNA, small nucleolar Approved 1p34.1 01p34.1 U38B RNU38B RNA, U38B small nucleolar Small nucleolar RNAs, C/D box 845 2004-05-20 2006-05-03 2006-05-03 2010-03-29 94163 ENSG00000207421 uc057fwg.1 NR_001457 8764399 SR0000016 HGNC:30356 +HGNC:52227 SNORD38C small nucleolar RNA, C/D box 38C non-coding RNA RNA, small nucleolar Approved 3p21.1 03p21.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617024 ENSG00000207109 NR_145715 27174936 HGNC:52227 +HGNC:52228 SNORD38D small nucleolar RNA, C/D box 38D non-coding RNA RNA, small nucleolar Approved 8p11.22 08p11.22 Small nucleolar RNAs, C/D box 845 2016-11-18 2017-02-15 109616979 NR_145736 27174936 HGNC:52228 +HGNC:10179 SNORD41 small nucleolar RNA, C/D box 41 non-coding RNA RNA, small nucleolar Approved 19p13.13 19p13.13 U41 RNU41 RNA, U41 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26810 ENSG00000209702 uc002mut.1 X96640 NR_002751 8674114 SR0000261 HGNC:10179 +HGNC:10180 SNORD42A small nucleolar RNA, C/D box 42A non-coding RNA RNA, small nucleolar Approved 17q11.2 17q11.2 U42 RNU42A RNA, U42A small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26809 ENSG00000238649 uc060dds.1 X96641 NR_000014 8674114 SR0000244 HGNC:10180 +HGNC:10181 SNORD42B small nucleolar RNA, C/D box 42B non-coding RNA RNA, small nucleolar Approved 17q11.2 17q11.2 U42B RNU42B RNA, U42B small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26808 ENSG00000238423 uc002hcj.1 AJ224023 NR_000013 9417910 SR0000242 HGNC:10181 +HGNC:10182 SNORD43 small nucleolar RNA, C/D box 43 non-coding RNA RNA, small nucleolar Approved 22q13.1 22q13.1 U43 RNU43 RNA, U43 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-07-05 2013-09-05 26807 ENSG00000263764 uc062ekw.1 X96642 NR_002439 8674114 611068 SR0000302 HGNC:10182 +HGNC:10183 SNORD44 small nucleolar RNA, C/D box 44 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 U44 RNU44 RNA, U44 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26806 uc058yiu.1 X96643 NR_002750 8674114 SR0000031 HGNC:10183 +HGNC:10184 SNORD45A small nucleolar RNA, C/D box 45A non-coding RNA RNA, small nucleolar Approved 1p31.1 01p31.1 U45a RNU45A RNA, U45A small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26805 ENSG00000207241 uc009wbu.1 X96644 NR_002749 8674114 SR0000018 HGNC:10184 +HGNC:10185 SNORD45B small nucleolar RNA, C/D box 45B non-coding RNA RNA, small nucleolar Approved 1p31.1 01p31.1 U45b RNU45B RNA, U45B small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26804 ENSG00000201487 uc057hsh.1 X96645 NR_002748 8674114 SR0000019 HGNC:10185 +HGNC:32720 SNORD45C small nucleolar RNA, C/D box 45C non-coding RNA RNA, small nucleolar Approved 1p31.1 01p31.1 U45C Small nucleolar RNAs, C/D box 845 2006-05-03 2013-09-05 692085 ENSG00000206620 uc057hse.1 AL357314 NR_003042 8674114 SR0000017 HGNC:32720 +HGNC:10186 SNORD46 small nucleolar RNA, C/D box 46 non-coding RNA RNA, small nucleolar Approved 1p34.1 01p34.1 "U46|U40" "RNU46|RNU40" "RNA, U46 small nuclear|RNA, U40 small nuclear" Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2014-11-19 94161 ENSG00000200913 uc001cmk.2 X96646 NR_000024 "8674114|8764399" SR0000014 HGNC:10186 +HGNC:10187 SNORD47 small nucleolar RNA, C/D box 47 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 U47 RNU47 RNA, U47 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2015-01-29 26802 X96647 NR_002746 8674114 SR0000027 HGNC:10187 +HGNC:10188 SNORD48 small nucleolar RNA, C/D box 48 non-coding RNA RNA, small nucleolar Approved 6p21.33 06p21.33 U48 RNU48 RNA, U48 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2013-09-05 26801 ENSG00000201823 uc003nxo.1 X96648 NR_002745 8674114 SR0000335 HGNC:10188 +HGNC:10189 SNORD49A small nucleolar RNA, C/D box 49A non-coding RNA RNA, small nucleolar Approved 17p11.2 17p11.2 "U49|U49A" RNU49 RNA, U49 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2015-02-05 26800 ENSG00000277370 uc010cpg.1 X96649 NR_002744 8674114 SR0000234 HGNC:10189 +HGNC:32721 SNORD49B small nucleolar RNA, C/D box 49B non-coding RNA RNA, small nucleolar Approved 17p11.2 17p11.2 U49B Small nucleolar RNAs, C/D box 845 2006-05-03 2015-02-05 692087 ENSG00000277108 uc060btg.1 AC093484 NR_003043 8674114 SR0000233 HGNC:32721 +HGNC:10200 SNORD50A small nucleolar RNA, C/D box 50A non-coding RNA RNA, small nucleolar Approved 6q14.3 06q14.3 U50 RNU50 RNA, U50 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-03 2006-05-03 2015-01-29 26799 uc003ple.2 "X96662|AB017710" NR_002743 8674114 613117 SR0000337 HGNC:10200 +HGNC:32722 SNORD50B small nucleolar RNA, C/D box 50B non-coding RNA RNA, small nucleolar Approved 6q14.3 06q14.3 U50B Small nucleolar RNAs, C/D box 845 2006-05-03 2015-02-05 692088 ENSG00000275072 uc063pyc.1 AB017710 NR_003044 10792466 613264 SR0000338 HGNC:32722 +HGNC:10201 SNORD51 small nucleolar RNA, C/D box 51 non-coding RNA RNA, small nucleolar Approved 2q33.3 02q33.3 U51 RNU51 RNA, U51 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2013-09-05 26798 ENSG00000207047 uc059fut.1 X96650 NR_002589 8674114 SR0000278 HGNC:10201 +HGNC:10202 SNORD52 small nucleolar RNA, C/D box 52 non-coding RNA RNA, small nucleolar Approved 6p21.33 06p21.33 U52 RNU52 RNA, U52 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2013-09-05 26797 ENSG00000201754 uc063nij.1 X96651 NR_002742 8674114 SR0000336 HGNC:10202 +HGNC:10203 SNORD53 small nucleolar RNA, C/D box 53 non-coding RNA RNA, small nucleolar Approved 2p23.2 02p23.2 "U53|SNORD53A" RNU53 RNA, U53 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2015-10-29 26796 ENSG00000265145 uc002rmq.2 X96652 NR_002741 8674114 SR0000273 HGNC:10203 +HGNC:52229 SNORD53B small nucleolar RNA, C/D box 53B non-coding RNA RNA, small nucleolar Approved 2p23.2 02p23.2 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617012 ENSG00000265706 NR_145755 27174936 HGNC:52229 +HGNC:10204 SNORD54 small nucleolar RNA, C/D box 54 non-coding RNA RNA, small nucleolar Approved 8q12.1 08q12.1 U54 RNU54 RNA, U54 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2013-09-05 26795 ENSG00000238650 uc064mym.1 X96653 NR_002437 8674114 SR0000353 HGNC:10204 +HGNC:10205 SNORD55 small nucleolar RNA, C/D box 55 non-coding RNA RNA, small nucleolar Approved 1p34.1 01p34.1 "U55|U39" "RNU55|RNU39|SNORD39" "RNA, U55 small nuclear|RNA, U39 small nucleolar|small nucleolar RNA, C/D box 39" Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2014-11-19 26811 ENSG00000264294 uc057fwc.1 X96654 NR_000015 "8674114|8764399" SR0000013 HGNC:10205 +HGNC:10206 SNORD56 small nucleolar RNA, C/D box 56 non-coding RNA RNA, small nucleolar Approved 20p13 20p13 U56 RNU56 RNA, U56 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2014-11-19 26793 ENSG00000229686 OTTHUMG00000031704 uc062clv.1 X96655 NR_002739 8674114 SR0000288 HGNC:10206 +HGNC:19771 SNORD56B small nucleolar RNA, C/D box 56B non-coding RNA RNA, small nucleolar Approved 14q24.2 14q24.2 RNU56B RNA, U56B small nuclear 2003-01-13 2008-05-02 2008-05-02 2011-09-15 319139 ENSG00000207444 uc001xmq.3 NR_001276 HGNC:19771 +HGNC:10207 SNORD57 small nucleolar RNA, C/D box 57 non-coding RNA RNA, small nucleolar Approved 20p13 20p13 U57 RNU57 RNA, U57 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2014-11-19 26792 ENSG00000226572 OTTHUMG00000031705 uc061vbj.1 X96656 NR_002738 8674114 SR0000289 HGNC:10207 +HGNC:10208 SNORD58A small nucleolar RNA, C/D box 58A non-coding RNA RNA, small nucleolar Approved 18q21.1 18q21.1 U58a RNU58A RNA, U58A small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2013-09-05 26791 ENSG00000206602 uc002lds.1 X96657 NR_002571 8674114 SR0000254 HGNC:10208 +HGNC:10209 SNORD58B small nucleolar RNA, C/D box 58B non-coding RNA RNA, small nucleolar Approved 18q21.1 18q21.1 U58b RNU58B RNA, U58B small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2015-02-06 26790 ENSG00000271982 uc002ldt.2 X96658 NR_002572 8674114 SR0000255 HGNC:10209 +HGNC:33613 SNORD58C small nucleolar RNA, C/D box 58C non-coding RNA RNA, small nucleolar Approved 18q21.1 18q21.1 Small nucleolar RNAs, C/D box 845 2007-08-21 2008-07-02 100124516 ENSG00000202093 uc060pbm.1 AM413028 NR_003701 SR0000483 HGNC:33613 +HGNC:10210 SNORD59A small nucleolar RNA, C/D box 59A non-coding RNA RNA, small nucleolar Approved 12p13.3 12p13.3 U59 RNU59 RNA, U59 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2013-09-05 26789 ENSG00000207031 uc001slt.1 X96659 NR_002737 8674114 SR0000080 HGNC:10210 +HGNC:32723 SNORD59B small nucleolar RNA, C/D box 59B non-coding RNA RNA, small nucleolar Approved 12q13.3 12q13.3 U59B Small nucleolar RNAs, C/D box 845 2006-05-04 2013-09-05 692090 NR_003046 8674114 SR0000079 HGNC:32723 +HGNC:10217 SNORD60 small nucleolar RNA, C/D box 60 non-coding RNA RNA, small nucleolar Approved 16p13.3 16p13.3 U60 RNU60 RNA, U60 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2013-09-05 26788 ENSG00000206630 uc057wtw.1 X96660 NR_002736 8674114 SR0000219 HGNC:10217 +HGNC:10218 SNORD61 small nucleolar RNA, C/D box 61 non-coding RNA RNA, small nucleolar Approved Xq26.3 Xq26.3 "U61|HBII-342" RNU61 RNA, U61 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-04 2006-05-04 2013-09-05 26787 ENSG00000206979 uc004fah.1 X96661 NR_002735 "8674114|11387227" MGI:2148805 SR0000372 HGNC:10218 +HGNC:10219 SNORD62A small nucleolar RNA, C/D box 62A non-coding RNA RNA, small nucleolar Approved 9q34.13 09q34.13 "U62|U62A" RNU62 RNA, U62 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-05 2006-05-05 2015-02-06 26786 ENSG00000235284 uc004caq.3 U72851 NR_002914 8962077 SR0000359 HGNC:10219 +HGNC:23031 SNORD62B small nucleolar RNA, C/D box 62B non-coding RNA RNA, small nucleolar Approved 9q34.13 09q34.13 "U62|U62B" Small nucleolar RNAs, C/D box 845 2006-05-05 2015-02-06 692093 ENSG00000231587 uc004car.3 NR_003050 SR0000360 HGNC:23031 +HGNC:10220 SNORD63 small nucleolar RNA, C/D box 63 non-coding RNA RNA, small nucleolar Approved 5q31.2 05q31.2 "U63|SNORD63A" RNU63 RNA, U63 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-05 2006-05-05 2015-10-29 26785 ENSG00000206989 uc003ldg.3 U72852 NR_002913 8962077 SR0000326 HGNC:10220 +HGNC:52230 SNORD63B small nucleolar RNA, C/D box 63B non-coding RNA RNA, small nucleolar Approved 5q31.2 05q31.2 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617013 ENSG00000222937 NR_145752 27174936 HGNC:52230 +HGNC:32725 SNORD64 small nucleolar RNA, C/D box 64 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-13 Small nucleolar RNAs, C/D box 845 2006-05-08 2015-02-06 347686 ENSG00000276610 uc057mho.1 NR_001294 11106375 SR0000133 HGNC:32725 +HGNC:32726 SNORD65 small nucleolar RNA, C/D box 65 non-coding RNA RNA, small nucleolar Approved 17p11.2 17p11.2 "HBII-135|SNORD65A" Small nucleolar RNAs, C/D box 845 2006-05-08 2015-10-29 692106 ENSG00000277512 uc063bek.1 AC093484 NR_003054 11387227 SR0000235 HGNC:32726 +HGNC:52231 SNORD65B small nucleolar RNA, C/D box 65B non-coding RNA RNA, small nucleolar Approved 8p11.21 08p11.21 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616980 ENSG00000238936 NR_145746 27174936 HGNC:52231 +HGNC:52232 SNORD65C small nucleolar RNA, C/D box 65C non-coding RNA RNA, small nucleolar Approved 7p15.3 07p15.3 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616981 ENSG00000212264 NR_145734 27174936 HGNC:52232 +HGNC:32727 SNORD66 small nucleolar RNA, C/D box 66 non-coding RNA RNA, small nucleolar Approved 3q27.1 03q27.1 HBII-142 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692107 ENSG00000212158 uc003fnz.3 AC078797 NR_003055 11387227 SR0000312 HGNC:32727 +HGNC:32728 SNORD67 small nucleolar RNA, C/D box 67 non-coding RNA RNA, small nucleolar Approved 11p11.2 11p11.2 HBII-166 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692108 ENSG00000212135 uc001ndk.3 AC115088 NR_003056 11387227 SR0000052 HGNC:32728 +HGNC:32729 SNORD68 small nucleolar RNA, C/D box 68 non-coding RNA RNA, small nucleolar Approved 16q24.3 16q24.3 HBII-202 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 606500 ENSG00000200084 uc059ypa.1 NR_002450 "11387227|2247610" SR0000225 HGNC:32729 +HGNC:32730 SNORD69 small nucleolar RNA, C/D box 69 non-coding RNA RNA, small nucleolar Approved 3p21.1 03p21.1 HBII-210 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692109 ENSG00000212452 uc003dfh.1 AC104446 NR_003057 11387227 SR0000307 HGNC:32730 +HGNC:32731 SNORD70 small nucleolar RNA, C/D box 70 non-coding RNA RNA, small nucleolar Approved 2q33.1 02q33.1 "HBII-234|SNORD70A" Small nucleolar RNAs, C/D box 845 2006-05-08 2015-10-29 692110 ENSG00000212534 uc021vvh.1 AC064836 NR_003058 11387227 SR0000276 HGNC:32731 +HGNC:52233 SNORD70B small nucleolar RNA, C/D box 70B non-coding RNA RNA, small nucleolar Approved 2q33.1 02q33.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616995 ENSG00000212309 NR_145774 27174936 HGNC:52233 +HGNC:32732 SNORD71 small nucleolar RNA, C/D box 71 non-coding RNA RNA, small nucleolar Approved 16q22.2 16q22.2 "HBII-239|hsa-mir-768" MIRN768 microRNA 768 Small nucleolar RNAs, C/D box 845 2006-05-08 2014-11-19 692111 ENSG00000223224 uc002fbc.1 AC010653 NR_003059 11387227 SR0000224 HGNC:32732 +HGNC:32733 SNORD72 small nucleolar RNA, C/D box 72 non-coding RNA RNA, small nucleolar Approved 5p13.1 05p13.1 HBII-240 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 619564 ENSG00000212296 uc003jmf.1 NR_002583 11387227 SR0000322 HGNC:32733 +HGNC:10235 SNORD73A small nucleolar RNA, C/D box 73A non-coding RNA RNA, small nucleolar Approved 4q31.3 04q31.3 "U73a|RNU73A" RNU73 RNA, U73 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-05 2006-05-05 2013-09-05 8944 ENSG00000208797 uc003ima.1 Z83330 NR_000007 9573378 603568 SR0000321 HGNC:10235 +HGNC:30357 SNORD73B small nucleolar RNA, C/D box U73B non-coding RNA RNA, small nucleolar Approved 4q31.3 04q31.3 U73B RNU73B "RNA, U73B small nucleolar pseudogene|small nucleolar RNA, C/D box U73B (pseudogene)" Small nucleolar RNAs, C/D box 845 2004-08-26 2006-05-05 2019-05-09 2019-05-09 114655 ENSG00000201264 X87373 NR_145963 "9573378|8647443" SR0000320 HGNC:30357 +HGNC:32734 SNORD74 small nucleolar RNA, C/D box 74 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 "U74|Z18|SNORD74A" Small nucleolar RNAs, C/D box 845 2006-05-08 2018-06-15 619498 uc059mvp.1 "AF141346|AJ224026" NR_002579 15556860 SR0000035 HGNC:32734 +HGNC:52234 SNORD74B small nucleolar RNA, C/D box 74B non-coding RNA RNA, small nucleolar Approved 21q21.1 21q21.1 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109617014 ENSG00000201025 NR_145757 27174936 HGNC:52234 +HGNC:32735 SNORD75 small nucleolar RNA, C/D box 75 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 U75 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692195 uc021vgl.1 AF141346 NR_003941 "15556860|9819378" SR0000034 HGNC:32735 +HGNC:32736 SNORD76 small nucleolar RNA, C/D box 76 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 U76 Small nucleolar RNAs, C/D box 845 2006-05-08 2015-01-29 692196 AF141346 NR_003942 "15556860|9819378" SR0000033 HGNC:32736 +HGNC:32737 SNORD77 small nucleolar RNA, C/D box 77 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 "U77|SNORD77A" Small nucleolar RNAs, C/D box 845 2006-05-08 2015-10-29 692197 uc059liu.1 AF141346 NR_003943 "15556860|9819378" SR0000032 HGNC:32737 +HGNC:52235 SNORD77B small nucleolar RNA, C/D box 77B non-coding RNA RNA, small nucleolar Approved 8q22.2 08q22.2 Small nucleolar RNAs, C/D box 845 2016-11-18 2016-11-18 109616982 ENSG00000212414 NR_145741 27174936 HGNC:52235 +HGNC:32738 SNORD78 small nucleolar RNA, C/D box 78 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 U78 Small nucleolar RNAs, C/D box 845 2006-05-08 2015-01-29 692198 uc061jji.1 AF141346 NR_003944 "15556860|9819378" SR0000030 HGNC:32738 +HGNC:10100 SNORD79 small nucleolar RNA, C/D box 79 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 "Z22|U79" RNU103 RNA, U103 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-08 2006-05-08 2018-06-15 26770 uc063bhu.1 "AJ224027|AF141346" NR_003939 "15556860|9819378" SR0000029 HGNC:10100 +HGNC:10096 SNORD80 small nucleolar RNA, C/D box 80 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 "Z15|U80" RNU100 RNA, U100 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-08 2006-05-08 2015-01-29 26774 "AJ224022|AF141346" NR_003940 "15556860|9819378" SR0000028 HGNC:10096 +HGNC:10101 SNORD81 small nucleolar RNA, C/D box 81 non-coding RNA RNA, small nucleolar Approved 1q25.1 01q25.1 "Z23|U81" RNU104 RNA, U104 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-08 2006-05-08 2018-06-15 26769 uc057iar.1 "AJ224028|AF141346" NR_003938 "15556860|9819378" SR0000026 HGNC:10101 +HGNC:10240 SNORD82 small nucleolar RNA, C/D box 82 non-coding RNA RNA, small nucleolar Approved 2q37.1 02q37.1 "Z25|U82" RNU82 RNA, U82 small nuclear Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-08 2006-05-08 2018-06-15 25826 ENSG00000202400 uc010fxw.2 AJ010666 NR_004398 "2394707|10684968" MGI:1931502 611133 SR0000282 HGNC:10240 +HGNC:17131 SNORD83A small nucleolar RNA, C/D box 83A non-coding RNA RNA, small nucleolar Approved 22q13.1 22q13.1 U83A RNU83A RNA, U83A small nucleolar Small nucleolar RNAs, C/D box 845 2001-11-07 2006-05-11 2006-05-11 2013-09-05 116937 ENSG00000209482 uc062ekn.1 AJ238852 NR_000027 10684968 611070 SR0000301 HGNC:17131 +HGNC:17132 SNORD83B small nucleolar RNA, C/D box 83B non-coding RNA RNA, small nucleolar Approved 22q13.1 22q13.1 U83B RNU83B RNA, U83B small nucleolar Small nucleolar RNAs, C/D box 845 2001-11-07 2006-05-11 2006-05-11 2013-09-05 116938 ENSG00000209480 uc062ekj.1 AJ238852 NR_000028 10684968 611071 SR0000300 HGNC:17132 +HGNC:32743 SNORD84 small nucleolar RNA, C/D box 84 non-coding RNA RNA, small nucleolar Approved 6p21.33 06p21.33 U84 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692199 ENSG00000265236 uc011jjj.1 AJ243199 NR_003065 10684929 SR0000333 HGNC:32743 +HGNC:32745 SNORD86 small nucleolar RNA, C/D box 86 non-coding RNA RNA, small nucleolar Approved 20p13 20p13 U86 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692201 ENSG00000212498 uc061vbc.1 AJ311853 NR_004399 11594746 SR0000287 HGNC:32745 +HGNC:32746 SNORD87 small nucleolar RNA, C/D box 87 non-coding RNA RNA, small nucleolar Approved 8q13.1 08q13.1 "HBII-276|U87" Small nucleolar RNAs, C/D box 845 2006-05-08 2015-02-06 641648 ENSG00000254341 uc064nkw.1 NR_002598 "12119114|11387227" 612216 SR0000354 HGNC:32746 +HGNC:32747 SNORD88A small nucleolar RNA, C/D box 88A non-coding RNA RNA, small nucleolar Approved 19q13.33 19q13.33 HBII-180A Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692202 ENSG00000221241 uc002pth.2 NR_003067 11387227 SR0000270 HGNC:32747 +HGNC:32748 SNORD88B small nucleolar RNA, C/D box 88B non-coding RNA RNA, small nucleolar Approved 19q13.33 19q13.33 HBII-180B Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692203 ENSG00000221381 uc061bss.1 NR_003068 11387227 SR0000269 HGNC:32748 +HGNC:32749 SNORD88C small nucleolar RNA, C/D box 88C non-coding RNA RNA, small nucleolar Approved 19q13.33 19q13.33 HBII-180C Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692204 ENSG00000220988 uc061bsu.1 NR_003069 11387227 SR0000271 HGNC:32749 +HGNC:32750 SNORD89 small nucleolar RNA, C/D box 89 non-coding RNA RNA, small nucleolar Approved 2q11.2 02q11.2 HBII-289 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692205 ENSG00000212283 uc002tay.1 NR_003070 11387227 SR0000275 HGNC:32750 +HGNC:32751 SNORD90 small nucleolar RNA, C/D box 90 non-coding RNA RNA, small nucleolar Approved 9q33.2 09q33.2 HBII-295 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692206 ENSG00000212447 uc004bnf.2 NR_003071 11387227 SR0000357 HGNC:32751 +HGNC:32752 SNORD91A small nucleolar RNA, C/D box 91A non-coding RNA RNA, small nucleolar Approved 17p13.3 17p13.3 HBII-296a Small nucleolar RNAs, C/D box 845 2006-05-08 2016-07-20 692207 ENSG00000212163 OTTHUMG00000185961 uc002ful.2 NR_003072 11387227 SR0000227 HGNC:32752 +HGNC:32753 SNORD91B small nucleolar RNA, C/D box 91B non-coding RNA RNA, small nucleolar Approved 17p13.3 17p13.3 HBII-296b Small nucleolar RNAs, C/D box 845 2006-05-08 2015-08-03 692208 ENSG00000275084 OTTHUMG00000185960 uc002fuk.2 NR_003073 11387227 SR0000226 HGNC:32753 +HGNC:32754 SNORD92 small nucleolar RNA, C/D box 92 non-coding RNA RNA, small nucleolar Approved 2p23.2 02p23.2 HBII-316 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692209 ENSG00000264994 uc002rmp.2 NR_003074 11387227 SR0000272 HGNC:32754 +HGNC:32755 SNORD93 small nucleolar RNA, C/D box 93 non-coding RNA RNA, small nucleolar Approved 7p15.3 07p15.3 HBII-336 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692210 ENSG00000221740 uc003svl.3 NR_003075 11387227 SR0000344 HGNC:32755 +HGNC:32756 SNORD94 small nucleolar RNA, C/D box 94 non-coding RNA RNA, small nucleolar Approved 2p11.2 02p11.2 U94 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692225 ENSG00000208772 uc010fgr.1 AY349593 NR_004378 14602913 SR0000274 HGNC:32756 +HGNC:32757 SNORD95 small nucleolar RNA, C/D box 95 non-coding RNA RNA, small nucleolar Approved 5q35.3 05q35.3 U95 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 619570 ENSG00000264549 uc064txs.1 AY349594 NR_002591 14602913 SR0000330 HGNC:32757 +HGNC:32758 SNORD96A small nucleolar RNA, C/D box 96A non-coding RNA RNA, small nucleolar Approved 5q35.3 05q35.3 U96a Small nucleolar RNAs, C/D box 845 2006-05-08 2015-02-06 619571 ENSG00000272296 uc063kya.1 AY349595 NR_002592 14602913 SR0000329 HGNC:32758 +HGNC:32759 SNORD96B small nucleolar RNA, C/D box 96B non-coding RNA RNA, small nucleolar Approved Xq23 Xq23 U96b Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692226 ENSG00000208883 uc010npr.2 AY349596 NR_004379 14602913 SR0000369 HGNC:32759 +HGNC:32760 SNORD97 small nucleolar RNA, C/D box 97 non-coding RNA RNA, small nucleolar Approved 11p15.3 11p15.3 U97 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692223 ENSG00000238622 uc009yge.3 AY349597 NR_004403 14602913 SR0000049 HGNC:32760 +HGNC:32761 SNORD98 small nucleolar RNA, C/D box 98 non-coding RNA RNA, small nucleolar Approved 10q21.3 10q21.3 HBII-419 Small nucleolar RNAs, C/D box 845 2006-05-08 2016-10-10 692211 ENSG00000283551 NR_003076 11387227 SR0000041 HGNC:32761 +HGNC:32762 SNORD99 small nucleolar RNA, C/D box 99 non-coding RNA RNA, small nucleolar Approved 1p35.3 01p35.3 HBII-420 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692212 ENSG00000221539 uc001bqq.2 NR_003077 11387227 SR0000005 HGNC:32762 +HGNC:32763 SNORD100 small nucleolar RNA, C/D box 100 non-coding RNA RNA, small nucleolar Approved 6q23.2 06q23.2 HBII-429 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 594838 ENSG00000221500 uc063rmc.1 NR_002435 11387227 SR0000340 HGNC:32763 +HGNC:32764 SNORD101 small nucleolar RNA, C/D box 101 non-coding RNA RNA, small nucleolar Approved 6q23.2 06q23.2 U101 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 594837 ENSG00000206754 uc063rmb.1 AY349602 NR_002434 14602913 SR0000339 HGNC:32764 +HGNC:10099 SNORD102 small nucleolar RNA, C/D box 102 non-coding RNA RNA, small nucleolar Approved 13q12.2 13q12.2 U102 RNU102 RNA, U102 small nucleolar Small nucleolar RNAs, C/D box 845 1999-12-14 2006-05-08 2006-05-08 2013-09-05 26771 ENSG00000207500 uc001urb.2 AY349603 NR_002574 14602913 SR0000083 HGNC:10099 +HGNC:32766 SNORD103A small nucleolar RNA, C/D box 103A non-coding RNA RNA, small nucleolar Approved 1p35.2 01p35.2 U103 Small nucleolar RNAs, C/D box 845 2006-05-11 2015-01-29 692234 AY349604 NR_004054 14602913 SR0000009 HGNC:32766 +HGNC:32767 SNORD103B small nucleolar RNA, C/D box 103B non-coding RNA RNA, small nucleolar Approved 1p35.2 01p35.2 U103B Small nucleolar RNAs, C/D box 845 2006-05-11 2015-01-29 692235 NR_033295 14602913 SR0000010 HGNC:32767 +HGNC:32744 SNORD103C small nucleolar RNA, C/D box 103C non-coding RNA RNA, small nucleolar Approved 1p35.2 01p35.2 HBII-251 SNORD85 small nucleolar RNA, C/D box 85 Small nucleolar RNAs, C/D box 845 2006-05-08 2015-11-11 2015-11-11 2015-11-11 692200 NR_003066 11387227 SR0000011 HGNC:32744 +HGNC:32768 SNORD104 small nucleolar RNA, C/D box 104 non-coding RNA RNA, small nucleolar Approved 17q23.3 17q23.3 U104 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692227 ENSG00000199753 uc010dee.2 AY349605 NR_004380 14602913 SR0000248 HGNC:32768 +HGNC:32769 SNORD105 small nucleolar RNA, C/D box 105 non-coding RNA RNA, small nucleolar Approved 19p13.2 19p13.2 U105 Small nucleolar RNAs, C/D box 845 2006-05-08 2007-08-01 2007-08-01 2013-09-05 692229 ENSG00000209645 uc010dwy.1 AY349606 NR_004381 14602913 SR0000260 HGNC:32769 +HGNC:33572 SNORD105B small nucleolar RNA, C/D box 105B non-coding RNA RNA, small nucleolar Approved 2q33.1 02q33.1 Small nucleolar RNAs, C/D box 845 2007-07-31 2008-07-02 100113382 ENSG00000238531 uc010dwz.2 AM413024 NR_003688 SR0000477 HGNC:33572 +HGNC:32771 SNORD107 small nucleolar RNA, C/D box 107 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-436 Small nucleolar RNAs, C/D box 845 2006-05-08 2015-02-03 91380 ENSG00000276314 uc001yxb.5 AY055806 NR_001293 11726556 SR0000132 HGNC:32771 +HGNC:32772 SNORD108 small nucleolar RNA, C/D box 108 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-437 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 338427 ENSG00000239014 uc059guj.1 AY055807 NR_001292 11726556 SR0000134 HGNC:32772 +HGNC:32773 SNORD109A small nucleolar RNA, C/D box 109A non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-438a Small nucleolar RNAs, C/D box 845 2006-05-08 2015-02-03 338428 ENSG00000274640 uc001yxf.1 AY055808 NR_001295 11726556 SR0000135 HGNC:32773 +HGNC:32774 SNORD109B small nucleolar RNA, C/D box 109B non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-438b Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 338429 ENSG00000239169 uc001zap.1 AC100774 NR_001289 11726556 SR0000209 HGNC:32774 +HGNC:32775 SNORD110 small nucleolar RNA, C/D box 110 non-coding RNA RNA, small nucleolar Approved 20p13 20p13 HBII-55 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692213 ENSG00000221116 uc002wgj.3 NR_003078 11387227 SR0000285 HGNC:32775 +HGNC:32776 SNORD111 small nucleolar RNA, C/D box 111 non-coding RNA RNA, small nucleolar Approved 16q22.1 16q22.1 HBII-82 Small nucleolar RNAs, C/D box 845 2006-05-08 2013-09-05 692214 ENSG00000221066 uc002ezg.1 NR_003079 11387227 SR0000223 HGNC:32776 +HGNC:33579 SNORD111B small nucleolar RNA, C/D box 111B non-coding RNA RNA, small nucleolar Approved 16q22.1 16q22.1 hsa-mir-3647 MIR3647 microRNA 3647 Small nucleolar RNAs, C/D box 845 2007-08-01 2014-11-18 100113402 ENSG00000221514 uc010cfv.3 AM413027 NR_003696 SR0000479 HGNC:33579 +HGNC:32777 SNORD112 small nucleolar RNA, C/D box 112 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(0) Small nucleolar RNAs, C/D box 845 2006-05-08 2015-02-03 692215 ENSG00000275662 uc064mix.1 NR_003080 12045206 613649 SR0000090 HGNC:32777 +HGNC:32980 SNORD113-1 small nucleolar RNA, C/D box 113-1 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(I-1) Small nucleolar RNAs, C/D box 845 2006-09-20 2013-09-05 767561 ENSG00000202191 uc001yii.2 NR_003229.1 12045206 613650 SR0000091 HGNC:32980 +HGNC:32981 SNORD113-2 small nucleolar RNA, C/D box 113-2 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(I-2) Small nucleolar RNAs, C/D box 845 2006-09-20 2013-09-05 767562 ENSG00000212384 uc001yij.4 NR_003230.1 12045206 SR0000092 HGNC:32981 +HGNC:32982 SNORD113-3 small nucleolar RNA, C/D box 113-3 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(I-3) Small nucleolar RNAs, C/D box 845 2006-09-20 2013-09-05 767563 ENSG00000201700 uc021sci.3 NR_003231.1 12045206 SR0000093 HGNC:32982 +HGNC:32983 SNORD113-4 small nucleolar RNA, C/D box 113-4 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(I-4) Small nucleolar RNAs, C/D box 845 2006-09-20 2013-09-05 767564 ENSG00000201672 uc001yil.4 NR_003232.1 12045206 SR0000094 HGNC:32983 +HGNC:32984 SNORD113-5 small nucleolar RNA, C/D box 113-5 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(I-5) Small nucleolar RNAs, C/D box 845 2006-09-20 2015-02-03 767565 ENSG00000272474 uc001yim.2 NR_003233.1 12045206 SR0000095 HGNC:32984 +HGNC:32985 SNORD113-6 small nucleolar RNA, C/D box 113-6 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(I-6) Small nucleolar RNAs, C/D box 845 2006-09-20 2013-09-05 767566 ENSG00000200215 uc001yin.4 NR_003234.1 12045206 SR0000096 HGNC:32985 +HGNC:32986 SNORD113-7 small nucleolar RNA, C/D box 113-7 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(I-7) Small nucleolar RNAs, C/D box 845 2006-09-20 2013-09-05 767567 ENSG00000200632 uc001yio.4 NR_003235.1 12045206 SR0000097 HGNC:32986 +HGNC:32987 SNORD113-8 small nucleolar RNA, C/D box 113-8 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(I-8) Small nucleolar RNAs, C/D box 845 2006-09-20 2013-09-05 767568 ENSG00000200367 uc032blu.2 NR_003236.1 12045206 SR0000098 HGNC:32987 +HGNC:32988 SNORD113-9 small nucleolar RNA, C/D box 113-9 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(I-9) Small nucleolar RNAs, C/D box 845 2006-09-20 2013-09-05 767569 ENSG00000201950 uc001yiq.4 NR_003237.1 12045206 SR0000099 HGNC:32988 +HGNC:32989 SNORD114-1 small nucleolar RNA, C/D box 114-1 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-1) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767577 ENSG00000199575 uc001yir.4 NR_003193.1 12045206 613651 SR0000100 HGNC:32989 +HGNC:32990 SNORD114-2 small nucleolar RNA, C/D box 114-2 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-2) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767578 ENSG00000200823 uc001yis.4 NR_003194.1 12045206 SR0000101 HGNC:32990 +HGNC:32991 SNORD114-3 small nucleolar RNA, C/D box 114-3 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-3) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767579 ENSG00000201839 uc001yit.4 NR_003195.1 12045206 SR0000102 HGNC:32991 +HGNC:32992 SNORD114-4 small nucleolar RNA, C/D box 114-4 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-4) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767580 ENSG00000200832 uc001yiu.4 NR_003196.1 12045206 SR0000103 HGNC:32992 +HGNC:32993 SNORD114-5 small nucleolar RNA, C/D box 114-5 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-5) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767581 ENSG00000199798 uc001yiv.4 NR_003197.1 12045206 SR0000104 HGNC:32993 +HGNC:32994 SNORD114-6 small nucleolar RNA, C/D box 114-6 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-6) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767582 ENSG00000201263 uc001yiw.4 NR_003198.1 12045206 SR0000105 HGNC:32994 +HGNC:32995 SNORD114-7 small nucleolar RNA, C/D box 114-7 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-7) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767583 ENSG00000199390 uc001yix.2 NR_003199.1 12045206 SR0000106 HGNC:32995 +HGNC:32996 SNORD114-8 small nucleolar RNA, C/D box 114-8 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-8) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767584 NR_003200.1 12045206 SR0000107 HGNC:32996 +HGNC:32997 SNORD114-9 small nucleolar RNA, C/D box 114-9 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-9) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767585 ENSG00000201240 uc001yiz.4 NR_003201.1 12045206 SR0000108 HGNC:32997 +HGNC:32998 SNORD114-10 small nucleolar RNA, C/D box 114-10 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-10) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767588 ENSG00000200279 uc001yja.4 NR_003203.1 12045206 SR0000109 HGNC:32998 +HGNC:32999 SNORD114-11 small nucleolar RNA, C/D box 114-11 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-11) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767589 ENSG00000200608 uc001yjb.4 NR_003204.1 12045206 SR0000110 HGNC:32999 +HGNC:33000 SNORD114-12 small nucleolar RNA, C/D box 114-12 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-12) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767590 ENSG00000202270 uc001yjc.4 NR_003205.1 12045206 SR0000111 HGNC:33000 +HGNC:33001 SNORD114-13 small nucleolar RNA, C/D box 114-13 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-13) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767591 ENSG00000201247 uc001yjd.4 NR_003206.1 12045206 SR0000112 HGNC:33001 +HGNC:33002 SNORD114-14 small nucleolar RNA, C/D box 114-14 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-14) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767592 ENSG00000199593 uc001yje.4 NR_003207.1 12045206 SR0000113 HGNC:33002 +HGNC:33003 SNORD114-15 small nucleolar RNA, C/D box 114-15 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-15) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767593 ENSG00000201557 uc001yjf.2 NR_003208.1 12045206 SR0000114 HGNC:33003 +HGNC:33004 SNORD114-16 small nucleolar RNA, C/D box 114-16 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-16) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767594 ENSG00000199914 uc001yjg.4 NR_003209.1 12045206 SR0000115 HGNC:33004 +HGNC:33005 SNORD114-17 small nucleolar RNA, C/D box 114-17 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-17) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767595 ENSG00000201569 uc001yjh.4 NR_003210.1 12045206 SR0000116 HGNC:33005 +HGNC:33006 SNORD114-18 small nucleolar RNA, C/D box 114-18 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-18) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767596 ENSG00000202142 uc001yji.4 NR_003211.1 12045206 SR0000117 HGNC:33006 +HGNC:33007 SNORD114-19 small nucleolar RNA, C/D box 114-19 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-19) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767597 ENSG00000199942 uc001yjj.4 NR_003212.1 12045206 SR0000118 HGNC:33007 +HGNC:33008 SNORD114-20 small nucleolar RNA, C/D box 114-20 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-20) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767598 ENSG00000202048 uc001yjk.2 NR_003213.1 12045206 SR0000119 HGNC:33008 +HGNC:33009 SNORD114-21 small nucleolar RNA, C/D box 114-21 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-21) Small nucleolar RNAs, C/D box 845 2006-09-26 2015-02-03 767599 ENSG00000272344 uc001yjl.4 NR_003214.1 12045206 SR0000120 HGNC:33009 +HGNC:33010 SNORD114-22 small nucleolar RNA, C/D box 114-22 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-22) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767600 ENSG00000202293 uc001yjm.4 NR_003215.1 12045206 SR0000121 HGNC:33010 +HGNC:33011 SNORD114-23 small nucleolar RNA, C/D box 114-23 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-23) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767603 ENSG00000200406 uc001yjn.4 NR_003216.1 12045206 SR0000122 HGNC:33011 +HGNC:33012 SNORD114-24 small nucleolar RNA, C/D box 114-24 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-24) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767604 ENSG00000201899 uc001yjo.2 NR_003217.1 12045206 SR0000123 HGNC:33012 +HGNC:33013 SNORD114-25 small nucleolar RNA, C/D box 114-25 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-25) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767605 ENSG00000200612 uc001yjp.2 NR_003218.1 12045206 SR0000124 HGNC:33013 +HGNC:33014 SNORD114-26 small nucleolar RNA, C/D box 114-26 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-26) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767606 ENSG00000200413 uc001yjq.4 NR_003219.1 12045206 SR0000125 HGNC:33014 +HGNC:33015 SNORD114-27 small nucleolar RNA, C/D box 114-27 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-27) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767608 ENSG00000200636 uc001yjr.4 NR_003220.1 12045206 SR0000126 HGNC:33015 +HGNC:33016 SNORD114-28 small nucleolar RNA, C/D box 114-28 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-28) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767609 ENSG00000200480 uc001yjs.4 NR_003221.1 12045206 SR0000127 HGNC:33016 +HGNC:33017 SNORD114-29 small nucleolar RNA, C/D box 114-29 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-29) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767610 ENSG00000201689 uc001yjt.2 NR_003222.1 12045206 SR0000128 HGNC:33017 +HGNC:33018 SNORD114-30 small nucleolar RNA, C/D box 114-30 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-30) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767611 ENSG00000201318 uc001yju.4 NR_003223.1 12045206 SR0000129 HGNC:33018 +HGNC:33019 SNORD114-31 small nucleolar RNA, C/D box 114-31 non-coding RNA RNA, small nucleolar Approved 14q32.31 14q32.31 14q(II-31) Small nucleolar RNAs, C/D box 845 2006-09-26 2013-09-05 767612 ENSG00000200089 uc001yjv.4 NR_003224.1 12045206 SR0000130 HGNC:33019 +HGNC:33020 SNORD115-1 small nucleolar RNA, C/D box 115-1 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-1 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 338433 ENSG00000201831 uc001yyq.1 AF250841 NR_001291 "11106375|11726556" 609837 SR0000165 HGNC:33020 +HGNC:33021 SNORD115-2 small nucleolar RNA, C/D box 115-2 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-2 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033437 ENSG00000199712 uc001yyr.1 AF250841 NR_003294.1 "11106375|11726556" SR0000166 HGNC:33021 +HGNC:33022 SNORD115-3 small nucleolar RNA, C/D box 115-3 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-3 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033440 ENSG00000199970 uc001yyt.1 AF250841 NR_003295.1 "11106375|11726556" SR0000167 HGNC:33022 +HGNC:33023 SNORD115-4 small nucleolar RNA, C/D box 115-4 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-4 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033441 ENSG00000200680 uc001yyu.1 AF250841 NR_003296.1 "11106375|11726556" SR0000168 HGNC:33023 +HGNC:33024 SNORD115-5 small nucleolar RNA, C/D box 115-5 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-5 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033442 ENSG00000200503 uc001yyv.1 AF250841 NR_003297.1 "11106375|11726556" SR0000169 HGNC:33024 +HGNC:33025 SNORD115-6 small nucleolar RNA, C/D box 115-6 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-6 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033443 ENSG00000200812 uc001yyx.1 AF250841 NR_003298.1 "11106375|11726556" SR0000170 HGNC:33025 +HGNC:33026 SNORD115-7 small nucleolar RNA, C/D box 115-7 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-7 Small nucleolar RNAs, C/D box 845 2007-02-15 2015-02-03 100033444 ENSG00000278089 uc001yyz.2 AF250841 NR_003299.1 "11106375|11726556" SR0000171 HGNC:33026 +HGNC:33027 SNORD115-8 small nucleolar RNA, C/D box 115-8 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-8 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033445 ENSG00000200726 uc001yzb.1 AF250841 NR_003300.1 "11106375|11726556" SR0000172 HGNC:33027 +HGNC:33028 SNORD115-9 small nucleolar RNA, C/D box 115-9 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-9 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033446 ENSG00000199782 uc001yzc.1 AF250841 NR_003301.1 "11106375|11726556" SR0000173 HGNC:33028 +HGNC:33029 SNORD115-10 small nucleolar RNA, C/D box 115-10 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-10 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033447 ENSG00000201943 uc001yzd.1 AF250841 NR_003302.1 "11106375|11726556" SR0000174 HGNC:33029 +HGNC:33030 SNORD115-11 small nucleolar RNA, C/D box 115-11 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-11 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033448 ENSG00000200486 uc001yze.1 AF250841 NR_003303.1 "11106375|11726556" SR0000175 HGNC:33030 +HGNC:33031 SNORD115-12 small nucleolar RNA, C/D box 115-12 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-12 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033449 ENSG00000199453 uc001yzg.1 AF250841 NR_003304.1 "11106375|11726556" SR0000176 HGNC:33031 +HGNC:33032 SNORD115-13 small nucleolar RNA, C/D box 115-13 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-13 Small nucleolar RNAs, C/D box 845 2007-02-15 2015-02-03 100033450 ENSG00000273835 uc001yzh.2 AF250841 NR_003305.1 "11106375|11726556" SR0000177 HGNC:33032 +HGNC:33033 SNORD115-14 small nucleolar RNA, C/D box 115-14 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-14 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033451 ENSG00000199960 uc001yzj.1 AF250841 NR_003306.1 "11106375|11726556" SR0000178 HGNC:33033 +HGNC:33034 SNORD115-15 small nucleolar RNA, C/D box 115-15 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-15 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033453 ENSG00000201679 uc032bwd.1 AF250841 NR_003307.1 "11106375|11726556" SR0000179 HGNC:33034 +HGNC:33035 SNORD115-16 small nucleolar RNA, C/D box 115-16 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-16 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033454 ENSG00000200757 uc001yzm.1 AF250841 NR_003308.1 "11106375|11726556" SR0000180 HGNC:33035 +HGNC:33036 SNORD115-17 small nucleolar RNA, C/D box 115-17 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-17 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033455 ENSG00000201482 uc001yzn.1 AF250841 NR_003309.1 "11106375|11726556" SR0000181 HGNC:33036 +HGNC:33037 SNORD115-18 small nucleolar RNA, C/D box 115-18 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-18 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033456 ENSG00000200163 uc001yzo.1 AF250841 NR_003310.1 "11106375|11726556" SR0000182 HGNC:33037 +HGNC:33038 SNORD115-19 small nucleolar RNA, C/D box 115-19 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-19 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033458 ENSG00000199968 uc001yzp.1 AF250841 NR_003311.1 "11106375|11726556" SR0000183 HGNC:33038 +HGNC:33039 SNORD115-20 small nucleolar RNA, C/D box 115-20 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-20 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033460 ENSG00000201969 uc059gvg.1 AF250841 NR_003312.1 "11106375|11726556" SR0000184 HGNC:33039 +HGNC:33040 SNORD115-21 small nucleolar RNA, C/D box 115-21 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-21 Small nucleolar RNAs, C/D box 845 2007-02-15 2014-11-19 100033603 ENSG00000199833 uc059gvh.1 AF250841 NR_003313.1 "11106375|11726556" SR0000185 HGNC:33040 +HGNC:33041 SNORD115-22 small nucleolar RNA, C/D box 115-22 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-22 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033799 ENSG00000201326 uc001yzr.1 AF250841 NR_003314.1 "11106375|11726556" SR0000186 HGNC:33041 +HGNC:33042 SNORD115-23 small nucleolar RNA, C/D box 115-23 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-23 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033800 ENSG00000201331 uc001yzs.3 AF250841 NR_003315.1 "11106375|11726556" SR0000187 HGNC:33042 +HGNC:33043 SNORD115-24 small nucleolar RNA, C/D box 115-24 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-24 Small nucleolar RNAs, C/D box 845 2010-10-05 2013-09-05 100036563 ENSG00000200398 uc010ayp.2 NR_003495 "11106375|11726556" HGNC:33043 +HGNC:33044 SNORD115-25 small nucleolar RNA, C/D box 115-25 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-25 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033801 ENSG00000199489 uc001yzu.1 AF250841 NR_003342.1 "11106375|11726556" SR0000188 HGNC:33044 +HGNC:33045 SNORD115-26 small nucleolar RNA, C/D box 115-26 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-26 Small nucleolar RNAs, C/D box 845 2007-02-15 2015-02-03 100033802 ENSG00000275524 uc001yzv.2 AF250841 NR_003343.1 "11106375|11726556" SR0000189 HGNC:33045 +HGNC:33046 SNORD115-27 small nucleolar RNA, C/D box 115-27 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-27 Small nucleolar RNAs, C/D box 845 2011-08-22 2013-09-05 100036564 ENSG00000201300 uc010ayq.2 NR_003496 "11106375|11726556" HGNC:33046 +HGNC:33047 SNORD115-28 small nucleolar RNA, C/D box 115-28 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-28 Small nucleolar RNAs, C/D box 845 2011-08-22 2013-09-05 100036565 ENSG00000200801 uc010ayr.2 NR_003497 "11106375|11726556" HGNC:33047 +HGNC:33048 SNORD115-29 small nucleolar RNA, C/D box 115-29 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-29 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033803 ENSG00000199704 uc001yzx.1 AF250841 NR_003344.1 "11106375|11726556" SR0000190 HGNC:33048 +HGNC:33049 SNORD115-30 small nucleolar RNA, C/D box 115-30 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-30 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033804 ENSG00000200987 uc001yzy.1 AF250841 NR_003345.1 "11106375|11726556" SR0000191 HGNC:33049 +HGNC:33050 SNORD115-31 small nucleolar RNA, C/D box 115-31 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-31 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033805 ENSG00000202188 uc001yzz.1 AF250841 NR_003346.1 "11106375|11726556" SR0000192 HGNC:33050 +HGNC:33051 SNORD115-32 small nucleolar RNA, C/D box 115-32 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-32 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033806 ENSG00000200949 uc001zaa.1 AF250841 NR_003347.1 "11106375|11726556" SR0000193 HGNC:33051 +HGNC:33052 SNORD115-33 small nucleolar RNA, C/D box 115-33 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-33 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033807 ENSG00000200593 uc001zab.1 AF250841 NR_003348.1 "11106375|11726556" SR0000194 HGNC:33052 +HGNC:33053 SNORD115-34 small nucleolar RNA, C/D box 115-34 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-34 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033808 ENSG00000199311 uc059gvi.1 AF250841 NR_003349.1 "11106375|11726556" SR0000195 HGNC:33053 +HGNC:33054 SNORD115-35 small nucleolar RNA, C/D box 115-35 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-35 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033809 ENSG00000201992 uc001zac.1 AF250841 NR_003350.1 "11106375|11726556" SR0000196 HGNC:33054 +HGNC:33055 SNORD115-36 small nucleolar RNA, C/D box 115-36 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-36 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033810 ENSG00000202499 uc001zad.1 AF250841 NR_003351.1 "11106375|11726556" SR0000197 HGNC:33055 +HGNC:33056 SNORD115-37 small nucleolar RNA, C/D box 115-37 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-37 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033811 ENSG00000200638 uc001zaf.1 AF250841 NR_003352.1 "11106375|11726556" SR0000198 HGNC:33056 +HGNC:33057 SNORD115-38 small nucleolar RNA, C/D box 115-38 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-38 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033812 ENSG00000201907 uc001zag.1 AF250841 NR_003353.1 "11106375|11726556" SR0000199 HGNC:33057 +HGNC:33058 SNORD115-39 small nucleolar RNA, C/D box 115-39 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-39 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033813 ENSG00000200564 uc001zah.1 AF250841 NR_003354.1 "11106375|11726556" SR0000200 HGNC:33058 +HGNC:33059 SNORD115-40 small nucleolar RNA, C/D box 115-40 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-40 Small nucleolar RNAs, C/D box 845 2007-02-15 2015-02-03 100033814 ENSG00000272460 uc001zai.1 AF250841 NR_003355.1 "11106375|11726556" SR0000201 HGNC:33059 +HGNC:33060 SNORD115-41 small nucleolar RNA, C/D box 115-41 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-41 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033815 ENSG00000200478 uc001zaj.1 AF250841 NR_003356.1 "11106375|11726556" SR0000202 HGNC:33060 +HGNC:33061 SNORD115-42 small nucleolar RNA, C/D box 115-42 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-42 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033816 ENSG00000201143 uc001zak.1 AF250841 NR_003357.1 "11106375|11726556" SR0000203 HGNC:33061 +HGNC:33062 SNORD115-43 small nucleolar RNA, C/D box 115-43 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-43 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033817 ENSG00000202373 uc001zal.1 AF250841 NR_003358.1 "11106375|11726556" SR0000204 HGNC:33062 +HGNC:33063 SNORD115-44 small nucleolar RNA, C/D box 115-44 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-44 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033818 ENSG00000202261 uc001zam.1 AF250841 NR_003359.1 "11106375|11726556" SR0000205 HGNC:33063 +HGNC:33064 SNORD115-45 small nucleolar RNA, C/D box 115-45 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 "HBII-52-45|SNORD115-48" Small nucleolar RNAs, C/D box 845 2011-08-22 2013-09-05 100036566 ENSG00000212380 uc010ays.4 NR_003498 "11106375|11726556" HGNC:33064 +HGNC:42798 SNORD115-46 small nucleolar RNA, C/D box 115-46 non-coding RNA RNA, small nucleolar Approved 15q11.2 not on reference assembly 15q11.2 not on reference assembly HBII-52-46 Small nucleolar RNAs, C/D box 845 2011-08-22 2015-02-04 100873857 ENSG00000276844 uc059gvk.1 NR_047033 HGNC:42798 +HGNC:33065 SNORD115-47 small nucleolar RNA, C/D box 115-47 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-47 Small nucleolar RNAs, C/D box 845 2011-08-22 2011-08-22 2014-02-12 100036567 ENSG00000212528 uc010ayt.2 NR_003499 "11106375|11726556" HGNC:33065 +HGNC:33343 SNORD115-48 small nucleolar RNA, C/D box 115-48 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-52-48 Small nucleolar RNAs, C/D box 845 2007-02-16 2013-09-05 100033822 ENSG00000201634 uc001zao.1 AF250841 NR_003362.1 "11106375|11726556" SR0000206 HGNC:33343 +HGNC:33067 SNORD116-1 small nucleolar RNA, C/D box 116-1 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-1 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033413 ENSG00000207063 uc001yxg.4 AF250841 NR_003316 "11106375|11726556" 605436 SR0000136 HGNC:33067 +HGNC:33068 SNORD116-2 small nucleolar RNA, C/D box 116-2 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-2 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033414 ENSG00000207001 uc001yxi.4 AF250841 NR_003317 "11106375|11726556" SR0000137 HGNC:33068 +HGNC:33069 SNORD116-3 small nucleolar RNA, C/D box 116-3 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-3 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033415 ENSG00000207014 uc001yxk.4 AF250841 NR_003318 "11106375|11726556" SR0000138 HGNC:33069 +HGNC:33070 SNORD116-4 small nucleolar RNA, C/D box 116-4 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-4 Small nucleolar RNAs, C/D box 845 2007-02-15 2015-02-03 100033416 ENSG00000275529 uc001yxl.5 AF250841 NR_003319 "11106375|11726556" SR0000139 HGNC:33070 +HGNC:33071 SNORD116-5 small nucleolar RNA, C/D box 116-5 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-5 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033417 ENSG00000207191 uc001yxo.4 AF250841 NR_003320 "11106375|11726556" SR0000140 HGNC:33071 +HGNC:33072 SNORD116-6 small nucleolar RNA, C/D box 116-6 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-6 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033418 ENSG00000207442 uc001yxp.5 AF250841 NR_003321 "11106375|11726556" SR0000141 HGNC:33072 +HGNC:33073 SNORD116-7 small nucleolar RNA, C/D box 116-7 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-7 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033419 ENSG00000207133 uc059gus.1 AF250841 NR_003322 "11106375|11726556" SR0000142 HGNC:33073 +HGNC:33074 SNORD116-8 small nucleolar RNA, C/D box 116-8 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-8 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033420 ENSG00000207093 uc001yxr.4 AF250841 NR_003323 "11106375|11726556" SR0000143 HGNC:33074 +HGNC:33075 SNORD116-9 small nucleolar RNA, C/D box 116-9 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-9 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033421 ENSG00000206727 uc001yxs.4 AF250841 NR_003324 "11106375|11726556" SR0000144 HGNC:33075 +HGNC:33076 SNORD116-10 small nucleolar RNA, C/D box 116-10 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-10 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033422 ENSG00000200661 uc001yxt.4 AF250841 NR_003325 "11106375|11726556" SR0000145 HGNC:33076 +HGNC:33077 SNORD116-11 small nucleolar RNA, C/D box 116-11 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-11 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033423 ENSG00000206609 uc001yxu.4 AF250841 NR_003326 "11106375|11726556" SR0000146 HGNC:33077 +HGNC:33078 SNORD116-12 small nucleolar RNA, C/D box 116-12 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-12 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033424 ENSG00000207197 uc001yxv.2 AF250841 NR_003327 "11106375|11726556" SR0000147 HGNC:33078 +HGNC:33079 SNORD116-13 small nucleolar RNA, C/D box 116-13 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-13 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033425 ENSG00000207137 uc001yxw.5 AF250841 NR_003328 "11106375|11726556" SR0000148 HGNC:33079 +HGNC:33080 SNORD116-14 small nucleolar RNA, C/D box 116-14 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-14 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033426 ENSG00000206621 uc059gut.1 AF250841 NR_003329 "11106375|11726556" SR0000149 HGNC:33080 +HGNC:33081 SNORD116-15 small nucleolar RNA, C/D box 116-15 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-15 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033427 ENSG00000207174 uc001yxz.4 AF250841 NR_003330 "11106375|11726556" SR0000150 HGNC:33081 +HGNC:33082 SNORD116-16 small nucleolar RNA, C/D box 116-16 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-16 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033428 ENSG00000207263 uc001yya.4 AF250841 NR_003331 "11106375|11726556" SR0000151 HGNC:33082 +HGNC:33083 SNORD116-17 small nucleolar RNA, C/D box 116-17 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-17 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033429 ENSG00000206656 uc001yyc.4 AF250841 NR_003332 "11106375|11726556" SR0000152 HGNC:33083 +HGNC:33084 SNORD116-18 small nucleolar RNA, C/D box 116-18 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-18 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033430 ENSG00000206688 uc010ayk.4 AF250841 NR_003333 "11106375|11726556" SR0000153 HGNC:33084 +HGNC:33085 SNORD116-19 small nucleolar RNA, C/D box 116-19 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-19 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 727708 ENSG00000207460 uc001yye.2 AF250841 NR_001290 "11106375|11726556" SR0000154 HGNC:33085 +HGNC:33086 SNORD116-20 small nucleolar RNA, C/D box 116-20 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-20 Small nucleolar RNAs, C/D box 845 2007-02-15 2015-02-03 100033431 ENSG00000278715 uc059guu.1 AF250841 NR_003334 "11106375|11726556" SR0000155 HGNC:33086 +HGNC:33087 SNORD116-21 small nucleolar RNA, C/D box 116-21 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-21 Small nucleolar RNAs, C/D box 845 2007-02-15 2015-02-03 100033432 ENSG00000277785 uc059guv.1 AF250841 NR_003335 "11106375|11726556" SR0000156 HGNC:33087 +HGNC:33088 SNORD116-22 small nucleolar RNA, C/D box 116-22 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-22 Small nucleolar RNAs, C/D box 845 2007-02-15 2015-02-03 100033433 ENSG00000275127 uc059guw.1 AF250841 NR_003336 "11106375|11726556" SR0000157 HGNC:33088 +HGNC:33089 SNORD116-23 small nucleolar RNA, C/D box 116-23 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-23 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033434 ENSG00000207375 uc001yyh.4 AF250841 NR_003337 "11106375|11726556" SR0000158 HGNC:33089 +HGNC:33090 SNORD116-24 small nucleolar RNA, C/D box 116-24 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-24 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033435 ENSG00000207279 uc001yyj.4 AF250841 NR_003338 "11106375|11726556" SR0000159 HGNC:33090 +HGNC:33091 SNORD116-25 small nucleolar RNA, C/D box 116-25 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-25 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033436 ENSG00000252326 uc001yyk.4 AF250841 NR_003339 "11106375|11726556" SR0000160 HGNC:33091 +HGNC:33092 SNORD116-26 small nucleolar RNA, C/D box 116-26 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-26 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033438 ENSG00000251815 uc001yyl.5 AF250841 NR_003340 "11106375|11726556" SR0000161 HGNC:33092 +HGNC:33093 SNORD116-27 small nucleolar RNA, C/D box 116-27 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-27 Small nucleolar RNAs, C/D box 845 2007-02-15 2013-09-05 100033439 ENSG00000251896 uc059gux.1 AF250841 NR_003341 "11106375|11726556" SR0000162 HGNC:33093 +HGNC:33347 SNORD116-28 small nucleolar RNA, C/D box 116-28 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-28 Small nucleolar RNAs, C/D box 845 2007-02-16 2015-02-03 100033820 ENSG00000278123 uc059guy.1 AF250841 NR_003361 "11106375|11726556" SR0000377 HGNC:33347 +HGNC:33348 SNORD116-29 small nucleolar RNA, C/D box 116-29 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-29 Small nucleolar RNAs, C/D box 845 2007-02-16 2013-09-05 100033821 ENSG00000207245 uc001yyo.4 AF250841 NR_003360 "11106375|11726556" SR0000378 HGNC:33348 +HGNC:42797 SNORD116-30 small nucleolar RNA, C/D box 116-30 non-coding RNA RNA, small nucleolar Approved 15q11.2 15q11.2 HBII-85-30 Small nucleolar RNAs, C/D box 845 2011-08-22 2014-11-19 100873856 ENSG00000252277 uc059guz.1 NR_047032 HGNC:42797 +HGNC:32742 SNORD117 small nucleolar RNA, C/D box 117 non-coding RNA RNA, small nucleolar Approved 6p21.33 06p21.33 U83 Small nucleolar RNAs, C/D box 845 2006-05-11 2013-09-05 692233 ENSG00000201785 uc003nty.1 AJ243200 NR_003140 10684929 SR0000332 HGNC:32742 +HGNC:32952 SNORD118 small nucleolar RNA, C/D box 118 non-coding RNA RNA, small nucleolar Approved 17p13.1 17p13.1 U8 Small nucleolar RNAs, C/D box 845 2006-07-07 2021-05-26 727676 ENSG00000200463 uc060ayv.1 NR_033294 "2411727|2531075" LRG_1204|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1204.xml 616663 SR0000232 HGNC:32952 HGNC:32952 +HGNC:33558 SNORD119 small nucleolar RNA, C/D box 119 non-coding RNA RNA, small nucleolar Approved 20p13 20p13 Small nucleolar RNAs, C/D box 845 2007-07-31 2015-01-29 100113378 AM413030 NR_003684 SR0000476 HGNC:33558 +HGNC:33560 SNORD121A small nucleolar RNA, C/D box 121A non-coding RNA RNA, small nucleolar Approved 9p13.3 09p13.3 Small nucleolar RNAs, C/D box 845 2007-07-31 2008-07-02 100113379 ENSG00000238886 uc010mjz.4 AM413031 NR_003685 SR0000489 HGNC:33560 +HGNC:33569 SNORD121B small nucleolar RNA, C/D box 121B non-coding RNA RNA, small nucleolar Approved 9p13.3 09p13.3 Small nucleolar RNAs, C/D box 845 2007-07-31 2014-01-30 101340252 ENSG00000238300 uc031tdn.2 AM413032 NR_102370 SR0000490 HGNC:33569 +HGNC:33562 SNORD123 small nucleolar RNA, C/D box 123 non-coding RNA RNA, small nucleolar Approved 5p15.2 05p15.2 Small nucleolar RNAs, C/D box 845 2007-07-31 2012-07-19 100113384 ENSG00000239112 uc010itp.2 AM413035 NR_003689 MGI:5297223 SR0000488 HGNC:33562 +HGNC:33563 SNORD124 small nucleolar RNA, C/D box 124 non-coding RNA RNA, small nucleolar Approved 17q21.1 17q21.1 Small nucleolar RNAs, C/D box 845 2007-07-31 2014-01-30 101340251 ENSG00000238793 uc031rac.2 AM413036 NR_102369 SR0000487 HGNC:33563 +HGNC:33564 SNORD125 small nucleolar RNA, C/D box 125 non-coding RNA RNA, small nucleolar Approved 22q12.2 22q12.2 Small nucleolar RNAs, C/D box 845 2007-07-31 2008-07-02 100113380 ENSG00000239127 uc062cxv.1 AM413037 NR_003686 SR0000486 HGNC:33564 +HGNC:33565 SNORD126 small nucleolar RNA, C/D box 126 non-coding RNA RNA, small nucleolar Approved 14q11.2 14q11.2 hsa-mir-1201 "MIR1201|MIRN1201" microRNA 1201 Small nucleolar RNAs, C/D box 845 2007-07-31 2014-11-19 100113391 ENSG00000238344 uc010ahi.2 AM413038 NR_003693 SR0000485 HGNC:33565 +HGNC:33555 SNORD127 small nucleolar RNA, C/D box 127 non-coding RNA RNA, small nucleolar Approved 14q21.3 14q21.3 Small nucleolar RNAs, C/D box 845 2007-07-31 2007-07-31 2014-02-12 100113389 ENSG00000239043 uc010ane.4 AM413025 NR_003691 SR0000491 HGNC:33555 +HGNC:50409 SNORD128 small nucleolar RNA, C/D box 128 non-coding RNA RNA, small nucleolar Approved 1p36.23 01p36.23 ZL43 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106632271 NR_132752 25514182 HGNC:50409 +HGNC:50410 SNORD129 small nucleolar RNA, C/D box 129 non-coding RNA RNA, small nucleolar Approved 10p14 10p14 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106635547 NR_132972 25514182 HGNC:50410 +HGNC:50411 SNORD130 small nucleolar RNA, C/D box 130 non-coding RNA RNA, small nucleolar Approved 10p12.1 10p12.1 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106635548 NR_132973 25514182 HGNC:50411 +HGNC:50412 SNORD131 small nucleolar RNA, C/D box 131 non-coding RNA RNA, small nucleolar Approved 11p15.5 11p15.5 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106635549 NR_132974 25514182 HGNC:50412 +HGNC:50413 SNORD132 small nucleolar RNA, C/D box 132 non-coding RNA RNA, small nucleolar Approved 2q13 02q13 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106635550 NR_132975 25514182 HGNC:50413 +HGNC:50414 SNORD133 small nucleolar RNA, C/D box 133 non-coding RNA RNA, small nucleolar Approved 12q13.12 12q13.12 "ZL42|ggn68" Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106633800 NR_132753 25514182 HGNC:50414 +HGNC:50415 SNORD134 small nucleolar RNA, C/D box 134 non-coding RNA RNA, small nucleolar Approved 17q25.3 17q25.3 ZL12 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106633803 NR_132755 25514182 HGNC:50415 +HGNC:50416 SNORD135 small nucleolar RNA, C/D box 135 non-coding RNA RNA, small nucleolar Approved 19p13.2 19p13.2 ZL2 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106633804 NR_132756 25514182 HGNC:50416 +HGNC:50417 SNORD136 small nucleolar RNA, C/D box 136 non-coding RNA RNA, small nucleolar Approved 3p21.1 03p21.1 ZL26 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106633805 NR_132757 25514182 HGNC:50417 +HGNC:50419 SNORD137 small nucleolar RNA, C/D box 137 non-coding RNA RNA, small nucleolar Approved 9p23 09p23 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106635615 NR_132976 25514182 HGNC:50419 +HGNC:50420 SNORD138 small nucleolar RNA, C/D box 138 non-coding RNA RNA, small nucleolar Approved 5q14.3 05q14.3 hsa-mir-3607 MIR3607 microRNA 3607 Small nucleolar RNAs, C/D box 845 2014-11-21 2017-02-15 109623460 ENSG00000284078 NR_145802 24174566 HGNC:50420 +HGNC:50421 SNORD139 small nucleolar RNA, C/D box 139 non-coding RNA RNA, small nucleolar Approved 22q13.1 22q13.1 Small nucleolar RNAs, C/D box 845 2014-11-20 2014-11-20 116936 NR_000026 24174566 611069 HGNC:50421 +HGNC:51405 SNORD140 small nucleolar RNA, C/D box 140 non-coding RNA RNA, small nucleolar Approved 22q13.2 22q13.2 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106635682 NR_132979 25514182 HGNC:51405 +HGNC:51406 SNORD141A small nucleolar RNA, C/D box 141A non-coding RNA RNA, small nucleolar Approved 9q34.13 09q34.13 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106635683 NR_132980 25514182 HGNC:51406 +HGNC:51407 SNORD141B small nucleolar RNA, C/D box 141B non-coding RNA RNA, small nucleolar Approved 5p15.2 05p15.2 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-30 106635684 NR_132981 25514182 HGNC:51407 +HGNC:50389 SNORD142 small nucleolar RNA, C/D box 142 non-coding RNA RNA, small nucleolar Approved 10p15.2 10p15.2 ZL68 "SNORA85|SNORD174" "small nucleolar RNA, H/ACA box 85|SNORD small nucleolar RNA, C/D box 174" Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-18 2015-09-18 2016-02-03 106633806 NR_132758 23706177 HGNC:50389 +HGNC:50400 SNORD143 small nucleolar RNA, C/D box 143 non-coding RNA RNA, small nucleolar Approved 4q21.22 04q21.22 ZL5 "SNORA96|SNORD171" "small nucleolar RNA, H/ACA box 96|small nucleolar RNA, C/D box 171" Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-18 2015-09-18 2015-09-23 106633808 NR_132759 23706177 HGNC:50400 +HGNC:50401 SNORD144 small nucleolar RNA, C/D box 144 non-coding RNA RNA, small nucleolar Approved 4q21.22 04q21.22 ZL6 SNORA97 small nucleolar RNA, H/ACA box 97 Small nucleolar RNAs, C/D box 845 2014-11-20 2015-09-18 2015-09-18 2016-02-03 106633809 NR_132760 23706177 HGNC:50401 +HGNC:51859 SNORD145 small nucleolar RNA, C/D box 145 non-coding RNA RNA, small nucleolar Approved 1p34.1 01p34.1 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623472 NR_145816 27174936 HGNC:51859 +HGNC:51860 SNORD146 small nucleolar RNA, C/D box 146 non-coding RNA RNA, small nucleolar Approved 3p21.31 03p21.31 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623484 NR_145791 27174936 HGNC:51860 +HGNC:51861 SNORD147 small nucleolar RNA, C/D box 147 non-coding RNA RNA, small nucleolar Approved 11p15.1 11p15.1 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-02-15 109623465 NR_145810 27174936 HGNC:51861 +HGNC:51862 SNORD148 small nucleolar RNA, C/D box 148 non-coding RNA RNA, small nucleolar Approved 16q11.2 16q11.2 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-02-15 109623466 NR_145810 27174936 HGNC:51862 +HGNC:51863 SNORD149 small nucleolar RNA, C/D box 149 non-coding RNA RNA, small nucleolar Approved 8q24.3 08q24.3 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623485 NR_145785 27174936 HGNC:51863 +HGNC:51864 SNORD150 small nucleolar RNA, C/D box 150 non-coding RNA RNA, small nucleolar Approved 11q23.3 11q23.3 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623467 NR_145809 27174936 HGNC:51864 +HGNC:51865 SNORD151 small nucleolar RNA, C/D box 151 non-coding RNA RNA, small nucleolar Approved 7p12.3 07p12.3 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623468 NR_145813 27174936 HGNC:51865 +HGNC:51866 SNORD152 small nucleolar RNA, C/D box 152 non-coding RNA RNA, small nucleolar Approved 19q13.13 19q13.13 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623473 NR_145800 27174936 HGNC:51866 +HGNC:51867 SNORD153 small nucleolar RNA, C/D box 153 non-coding RNA RNA, small nucleolar Approved 11q25 11q25 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623486 NR_145790 27174936 HGNC:51867 +HGNC:51868 SNORD154 small nucleolar RNA, C/D box 154 non-coding RNA RNA, small nucleolar Approved 20q12 20q12 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623474 NR_145814 27174936 HGNC:51868 +HGNC:51869 SNORD155 small nucleolar RNA, C/D box 155 non-coding RNA RNA, small nucleolar Approved 3q13.31 03q13.31 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623450 NR_145779 27174936 HGNC:51869 +HGNC:51870 SNORD156 small nucleolar RNA, C/D box 156 non-coding RNA RNA, small nucleolar Approved 6q13 06q13 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623475 NR_145788 27174936 HGNC:51870 +HGNC:51871 SNORD157 small nucleolar RNA, C/D box 157 non-coding RNA RNA, small nucleolar Approved 19q13.42 19q13.42 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623451 NR_145781 27174936 HGNC:51871 +HGNC:51872 SNORD158 small nucleolar RNA, C/D box 158 non-coding RNA RNA, small nucleolar Approved 10q25.3 10q25.3 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623470 NR_145811 27174936 HGNC:51872 +HGNC:51873 SNORD159 small nucleolar RNA, C/D box 159 non-coding RNA RNA, small nucleolar Approved 21q22.3 21q22.3 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623452 NR_145780 27174936 HGNC:51873 +HGNC:51874 SNORD160 small nucleolar RNA, C/D box 160 non-coding RNA RNA, small nucleolar Approved 1p34.1 01p34.1 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623476 NR_145793 27174936 HGNC:51874 +HGNC:51875 SNORD161 small nucleolar RNA, C/D box 161 non-coding RNA RNA, small nucleolar Approved 4q21.21 04q21.21 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623453 NR_145782 27174936 HGNC:51875 +HGNC:51876 SNORD162 small nucleolar RNA, C/D box 162 non-coding RNA RNA, small nucleolar Approved 4p16.2 04p16.2 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623454 NR_145783 27174936 HGNC:51876 +HGNC:51877 SNORD163 small nucleolar RNA, C/D box 163 non-coding RNA RNA, small nucleolar Approved 17p11.2 17p11.2 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623477 NR_145787 27174936 HGNC:51877 +HGNC:51878 SNORD164 small nucleolar RNA, C/D box 164 non-coding RNA RNA, small nucleolar Approved 11p13 11p13 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623487 NR_145794 27174936 HGNC:51878 +HGNC:51879 SNORD165 small nucleolar RNA, C/D box 165 non-coding RNA RNA, small nucleolar Approved 7p22.1 07p22.1 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623455 NR_145804 27174936 HGNC:51879 +HGNC:51880 SNORD166 small nucleolar RNA, C/D box 166 non-coding RNA RNA, small nucleolar Approved 6q21 06q21 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623478 NR_145796 27174936 HGNC:51880 +HGNC:51881 SNORD167 small nucleolar RNA, C/D box 167 non-coding RNA RNA, small nucleolar Approved 1p36.33 01p36.33 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623456 NR_145806 27174936 HGNC:51881 +HGNC:51882 SNORD168 small nucleolar RNA, C/D box 168 non-coding RNA RNA, small nucleolar Approved 8q24.11 08q24.11 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623457 NR_145799 27174936 HGNC:51882 +HGNC:51883 SNORD169 small nucleolar RNA, C/D box 169 non-coding RNA RNA, small nucleolar Approved 14q24.2 14q24.2 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623479 NR_145786 27174936 HGNC:51883 +HGNC:51884 SNORD170 small nucleolar RNA, C/D box 170 non-coding RNA RNA, small nucleolar Approved 5p15.2 05p15.2 Small nucleolar RNAs, C/D box 845 2015-09-18 2017-01-27 109623458 NR_145815 27174936 HGNC:51884 +HGNC:51886 SNORD172 small nucleolar RNA, C/D box 172 non-coding RNA RNA, small nucleolar Approved 10q22.2 10q22.2 Small nucleolar RNAs, C/D box 845 2015-09-18 2015-10-14 2017-01-27 109623471 NR_145812 27174936 HGNC:51886 +HGNC:51887 SNORD173 small nucleolar RNA, C/D box 173 non-coding RNA RNA, small nucleolar Approved 8q22.3 08q22.3 Small nucleolar RNAs, C/D box 845 2015-09-18 2015-10-14 2017-01-27 109623480 NR_145795 27174936 HGNC:51887 +HGNC:51889 SNORD175 small nucleolar RNA, C/D box 175 non-coding RNA RNA, small nucleolar Approved 19q13.2 19q13.2 SNORD small nucleolar RNA, C/D box 175 Small nucleolar RNAs, C/D box 845 2015-09-18 2015-10-14 2017-01-27 109623469 NR_145805 27174936 HGNC:51889 +HGNC:15931 SNPH syntaphilin protein-coding gene gene with protein product Approved 20p13 20p13 bA314N13.5 2001-06-21 2014-11-19 9751 ENSG00000101298 OTTHUMG00000031662 uc002wes.4 NM_014723 "CCDS13012|CCDS82590" O15079 10707983 MGI:2139270 RGD:1305867 604942 HGNC:15931 "ENST00000381867.6|NM_001318234.2" +HGNC:30598 SNRK SNF related kinase protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "FLJ20224|HSNFRK|KIAA0096" 2005-03-17 2014-11-19 54861 ENSG00000163788 OTTHUMG00000156491 uc003cmt.5 D43636 NM_017719 "CCDS82759|CCDS43075" Q9NRH2 "8654423|7788527" MGI:108104 RGD:69653 612760 objectId:2202 HGNC:30598 "ENST00000296088.12|NM_017719.5" +HGNC:41269 SNRK-AS1 SNRK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 SNRK antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100873954 ENSG00000234617 OTTHUMG00000156490 uc031rzb.2 NR_046757 SNRK-AS1 HGNC:41269 +HGNC:14161 SNRNP25 small nuclear ribonucleoprotein U11/U12 subunit 25 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 U11/U12-25K U11/U12 snRNP 25K C16orf33 "chromosome 16 open reading frame 33|small nuclear ribonucleoprotein 25kDa (U11/U12)|small nuclear ribonucleoprotein, U11/U12 25kDa subunit" "U11/U12 di-snRNP|U11 small nuclear ribonucleoprotein" "1521|2045" 2000-12-21 2008-10-29 2016-03-11 2016-03-11 79622 ENSG00000161981 OTTHUMG00000060720 uc059ofp.1 BC001381 NM_024571 CCDS10396 Q9BV90 15146077 MGI:1925622 RGD:1310922 HGNC:14161 "ENST00000293861.8|NM_024571.4" +HGNC:30240 SNRNP27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "RY1|U4/U6.U5-27K" "nucleic acid binding protein RY 1|U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein" "small nuclear ribonucleoprotein 27kDa (U4/U6.U5)|small nuclear ribonucleoprotein, U4/U6.U5 27kDa subunit" tri-snRP complex 1506 2008-10-29 2016-03-11 2016-10-05 11017 ENSG00000124380 OTTHUMG00000152689 uc002sfw.4 X76302 NM_006857 CCDS33219 Q8WVK2 "7931148|9085842" MGI:1913868 RGD:1310925 619629 HGNC:30240 "ENST00000244227.8|NM_006857.3" +HGNC:30852 SNRNP35 small nuclear ribonucleoprotein U11/U12 subunit 35 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 U1SNRNPBP U1 snRNP binding protein homolog "small nuclear ribonucleoprotein 35kDa (U11/U12)|small nuclear ribonucleoprotein U11/U12 35kDa subunit" "RNA binding motif containing|U11/U12 di-snRNP|U11 small nuclear ribonucleoprotein" "725|1521|2045" 2008-10-29 2016-03-11 2016-03-11 11066 ENSG00000184209 OTTHUMG00000167584 uc001ufb.2 BC054034 NM_007020 "CCDS45005|CCDS9249" Q16560 "10520751|8889548" MGI:1923417 RGD:1310724 619631 HGNC:30852 "ENST00000526639.3|NM_022717.4" +HGNC:30857 SNRNP40 small nuclear ribonucleoprotein U5 subunit 40 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "PRP8BP|SPF38|PRPF8BP|HPRP8BP" WDR57 "WD repeat domain 57 (U5 snRNP specific)|small nuclear ribonucleoprotein 40kDa (U5)|small nuclear ribonucleoprotein, U5 40kDa subunit" "WD repeat domain containing|U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "362|1503|1508|1510|1516" 2005-04-28 2008-10-29 2016-03-11 2016-03-11 9410 ENSG00000060688 OTTHUMG00000003790 uc001bso.4 AF090988 NM_004814 CCDS340 Q96DI7 "9774689|9731529|10788320" MGI:1913835 RGD:1309198 607797 HGNC:30857 "ENST00000263694.9|NM_004814.3" +HGNC:21368 SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "FLJ32234|dJ512B11.2|dJ336K20B.1" "U11/U12 snRNP 48K|U11-48K" C6orf151 "chromosome 6 open reading frame 151|small nuclear ribonucleoprotein 48kDa (U11/U12)|small nuclear ribonucleoprotein, U11/U12 48KDa subunit" "U11/U12 di-snRNP|U11 small nuclear ribonucleoprotein" "1521|2045" 2003-06-11 2008-10-29 2016-03-11 2017-06-23 154007 ENSG00000168566 OTTHUMG00000014213 uc003mxr.3 AK056796 NM_152551 CCDS4502 Q6IEG0 15146077 MGI:1915047 RGD:1309020 HGNC:21368 "ENST00000342415.6|NM_152551.4" +HGNC:11150 SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "U1-70K|Snp1" "RNPU1Z|RPU1|SNRP70" "small nuclear ribonucleoprotein 70kDa (RNP antigen)|small nuclear ribonucleoprotein 70kDa (U1)|small nuclear ribonucleoprotein, U1 70kDa subunit" "RNA binding motif containing|U1 small nuclear ribonucleoprotein" "725|1499" 1988-04-28 2008-10-29 2016-03-11 2016-10-05 6625 ENSG00000104852 OTTHUMG00000183344 uc002pmk.4 NM_003089 "CCDS74417|CCDS12756" P08621 MGI:98341 RGD:1307120 180740 471122 HGNC:11150 "ENST00000598441.6|NM_003089.6" +HGNC:30859 SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "U5-200KD|HELIC2|KIAA0788|BRR2" "U5 snRNP specific protein, 200 KD|bad response to refrigeration 2 homolog (S. cerevisiae)" "ASCC3L1|RP33" "activating signal cointegrator 1 complex subunit 3-like 1|retinitis pigmentosa 33 (autosomal dominant)|small nuclear ribonucleoprotein 200kDa (U5)|small nuclear ribonucleoprotein, U5 200kDa subunit" "RNA helicases|U5 small nuclear ribonucleoprotein|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1168|1503|1508|1510|1516" 2004-08-26 2008-10-29 2016-03-11 2016-06-03 23020 ENSG00000144028 OTTHUMG00000130455 uc002svu.4 AL831994 NM_014014 CCDS2020 O75643 "9872452|8670905|9774689|9539711|16612614|19878916" MGI:2444401 RGD:1561120 601664 221348 HGNC:30859 "ENST00000323853.10|NM_014014.5" HGNC:30859 +HGNC:11151 SNRPA small nuclear ribonucleoprotein polypeptide A protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "U1A|U1-A|Mud1" "RNA binding motif containing|U1 small nuclear ribonucleoprotein" "725|1499" 1989-06-30 2019-08-21 6626 ENSG00000077312 OTTHUMG00000182689 uc002ooz.4 X06347 NM_004596 CCDS12565 P09012 1701111 MGI:1855690 RGD:1307416 182285 HGNC:11151 "ENST00000243563.8|NM_004596.5" HGNC:11151 +HGNC:11152 SNRPA1 small nuclear ribonucleoprotein polypeptide A' protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "Lea1|U2A'" U2 small nuclear ribonucleoprotein 1501 1988-11-28 2018-02-02 6627 ENSG00000131876 OTTHUMG00000149871 uc002bww.4 AJ130971 NM_003090 CCDS10391 P09661 2928112 MGI:1916231 RGD:2320494 603521 HGNC:11152 "ENST00000254193.11|NM_003090.4" +HGNC:55431 SNRPA1-DT SNRPA1 divergent transcript non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Divergent transcripts 1990 2021-01-08 2021-01-08 120766138 ENSG00000259172 XR_007064783 +HGNC:54744 SNRPA1P1 SNRPA1 pseudogene 1 pseudogene pseudogene Approved 2q14.1 02q14.1 2019-12-19 2019-12-19 150478 ENSG00000144158 NG_001551 +HGNC:11153 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 protein-coding gene gene with protein product Approved 20p13 20p13 "COD|SmB/SmB'|Sm-B/B'|snRNP-B" SNRPB1 "Sm spliceosomal proteins|Small nucleolar RNA protein coding host genes" "1255|1835" 1988-11-28 2015-09-02 6628 ENSG00000125835 OTTHUMG00000031694 uc002wfz.2 NM_003091 "CCDS13027|CCDS13026" P14678 1376292 MGI:98342 RGD:621301 182282 411411 HGNC:11153 "ENST00000381342.7|NM_003091.4" HGNC:11153 +HGNC:11155 SNRPB2 small nuclear ribonucleoprotein polypeptide B2 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "Msl1|U2B''" "RNA binding motif containing|U2 small nuclear ribonucleoprotein " "725|1501" 1990-06-13 2016-04-06 2017-12-06 6629 ENSG00000125870 OTTHUMG00000031933 uc002wph.3 NM_003092 CCDS13123 P08579 2951739 MGI:104805 RGD:1310194 603520 HGNC:11155 "ENST00000246071.8|NM_003092.5" +HGNC:38665 SNRPBP1 small nuclear ribonucleoprotein polypeptides B and B1 pseudogene 1 pseudogene pseudogene Approved 7q21.11 07q21.11 2010-07-07 2014-11-19 100499258 ENSG00000223550 OTTHUMG00000155381 NG_023439 HGNC:38665 +HGNC:11157 SNRPC small nuclear ribonucleoprotein polypeptide C protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "U1-C|Yhc1" U1 small nuclear ribonucleoprotein 1499 1989-06-30 2016-10-05 6631 ENSG00000124562 OTTHUMG00000014555 uc003ojt.3 NM_003093 CCDS34436 P09234 "2971157|8532530" MGI:109489 RGD:1306065 603522 HGNC:11157 "ENST00000244520.10|NM_003093.3" +HGNC:49816 SNRPCP1 small nuclear ribonucleoprotein polypeptide C pseudogene 1 pseudogene pseudogene Approved 9p21.1 09p21.1 2014-03-06 2014-03-06 100288596 ENSG00000238001 OTTHUMG00000019748 NG_013309 PGOHUM00000236008 HGNC:49816 +HGNC:49817 SNRPCP2 small nuclear ribonucleoprotein polypeptide C pseudogene 2 pseudogene pseudogene Approved 5q13.3 05q13.3 2014-03-06 2014-03-06 100129566 ENSG00000251235 OTTHUMG00000162431 NG_013307 PGOHUM00000235661 HGNC:49817 +HGNC:49818 SNRPCP3 small nuclear ribonucleoprotein polypeptide C pseudogene 3 pseudogene pseudogene Approved 3q25.1 03q25.1 2014-03-06 2014-03-06 100128469 ENSG00000244668 OTTHUMG00000159850 NG_013315 PGOHUM00000237820 HGNC:49818 +HGNC:49819 SNRPCP4 small nuclear ribonucleoprotein polypeptide C pseudogene 4 pseudogene pseudogene Approved 18p11.31 18p11.31 2014-03-06 2014-03-06 100310848 ENSG00000264186 OTTHUMG00000178282 NG_013310 PGOHUM00000234972 HGNC:49819 +HGNC:49820 SNRPCP5 small nuclear ribonucleoprotein polypeptide C pseudogene 5 pseudogene pseudogene Approved 11p15.4 11p15.4 2014-03-06 2014-03-06 106480290 ENSG00000255522 OTTHUMG00000166988 NG_044183 HGNC:49820 +HGNC:49821 SNRPCP6 small nuclear ribonucleoprotein polypeptide C pseudogene 6 pseudogene pseudogene Approved 8p23.1 08p23.1 2014-03-06 2014-03-06 100310856 ENSG00000254683 OTTHUMG00000165381 NG_013320 HGNC:49821 +HGNC:49822 SNRPCP7 small nuclear ribonucleoprotein polypeptide C pseudogene 7 pseudogene pseudogene Approved 12p13.31 12p13.31 2014-03-06 2014-03-06 100310852 NG_013316 HGNC:49822 +HGNC:49823 SNRPCP8 small nuclear ribonucleoprotein polypeptide C pseudogene 8 pseudogene pseudogene Approved 3q22.1 03q22.1 2014-03-06 2014-03-06 100310851 ENSG00000250580 OTTHUMG00000159925 NG_013326 HGNC:49823 +HGNC:49824 SNRPCP9 small nuclear ribonucleoprotein polypeptide C pseudogene 9 pseudogene pseudogene Approved 7q21.3 07q21.3 2014-03-06 2014-03-06 100310853 ENSG00000231812 OTTHUMG00000154122 NG_013317 HGNC:49824 +HGNC:49825 SNRPCP10 small nuclear ribonucleoprotein polypeptide C pseudogene 10 pseudogene pseudogene Approved 3p12.3 03p12.3 2014-03-06 2016-11-09 106481701 ENSG00000243794 OTTHUMG00000158853 NG_043214 HGNC:49825 +HGNC:49826 SNRPCP11 small nuclear ribonucleoprotein polypeptide C pseudogene 11 pseudogene pseudogene Approved 3q21.2 03q21.2 2014-03-06 2014-03-06 100310850 ENSG00000241346 OTTHUMG00000159573 NG_013313 HGNC:49826 +HGNC:49827 SNRPCP12 small nuclear ribonucleoprotein polypeptide C pseudogene 12 pseudogene pseudogene Approved 11q13.2 11q13.2 2014-03-06 2014-03-06 100310854 NG_013318 HGNC:49827 +HGNC:49828 SNRPCP13 small nuclear ribonucleoprotein polypeptide C pseudogene 13 pseudogene pseudogene Approved 4p16.1 04p16.1 2014-03-06 2014-03-06 106481786 ENSG00000249799 OTTHUMG00000160247 NG_043883 HGNC:49828 +HGNC:49829 SNRPCP14 small nuclear ribonucleoprotein polypeptide C pseudogene 14 pseudogene pseudogene Approved 11q13.4 11q13.4 2014-03-06 2014-03-06 100310855 ENSG00000254805 OTTHUMG00000167459 NG_013319 HGNC:49829 +HGNC:49830 SNRPCP15 small nuclear ribonucleoprotein polypeptide C pseudogene 15 pseudogene pseudogene Approved 8p23.1 08p23.1 2014-03-06 2014-03-06 100310857 ENSG00000230106 OTTHUMG00000150580 NG_013321 HGNC:49830 +HGNC:49831 SNRPCP16 small nuclear ribonucleoprotein polypeptide C pseudogene 16 pseudogene pseudogene Approved 4p16.1 04p16.1 2014-03-06 2014-03-06 106480291 ENSG00000250342 OTTHUMG00000160097 NG_045751 HGNC:49831 +HGNC:49832 SNRPCP17 small nuclear ribonucleoprotein polypeptide C pseudogene 17 pseudogene pseudogene Approved 8p23.1 08p23.1 2014-03-06 2014-03-06 106481702 ENSG00000254311 OTTHUMG00000163645 NG_043224 HGNC:49832 +HGNC:49833 SNRPCP18 small nuclear ribonucleoprotein polypeptide C pseudogene 18 pseudogene pseudogene Approved 15q26.3 15q26.3 2014-03-06 2014-03-06 100289564 ENSG00000259464 OTTHUMG00000171903 NG_013311 PGOHUM00000247291 HGNC:49833 +HGNC:49834 SNRPCP19 small nuclear ribonucleoprotein polypeptide C pseudogene 19 pseudogene pseudogene Approved 7p15.3 07p15.3 2014-03-06 2014-03-06 100310849 ENSG00000234999 OTTHUMG00000152583 NG_013312 HGNC:49834 +HGNC:49835 SNRPCP20 small nuclear ribonucleoprotein polypeptide C pseudogene 20 pseudogene pseudogene Approved 16p13.3 16p13.3 2014-03-06 2014-03-06 106480292 ENSG00000267182 OTTHUMG00000177253 NG_011881 HGNC:49835 +HGNC:11158 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "HsT2456|Sm-D1" SNRPD "small nuclear ribonucleoprotein D1 polypeptide (16kD)|small nuclear ribonucleoprotein D1 polypeptide 16kDa" Sm spliceosomal proteins 1255 1990-06-13 2015-11-09 2015-11-09 6632 ENSG00000167088 OTTHUMG00000178934 uc002ktj.2 L36188 NM_006938 CCDS32801 P62314 "7527560|1701240" MGI:98344 RGD:1306345 601063 HGNC:11158 "ENST00000300413.10|NM_006938.4" +HGNC:11159 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide protein-coding gene gene with protein product Approved 19q13.2-q13.3 19q13.2-q13.3 Sm-D2 snRNP core protein D2 SNRPD1 "small nuclear ribonucleoprotein D2 polypeptide (16.5kD)|small nuclear ribonucleoprotein D2 polypeptide 16.5kDa" Sm spliceosomal proteins 1255 1990-06-13 2015-11-09 2015-11-09 6633 ENSG00000125743 OTTHUMG00000182130 uc002pcw.4 NM_004597 "CCDS54281|CCDS33053" P62316 "7527560|1701240" MGI:98345 RGD:1593018 601061 HGNC:11159 "ENST00000342669.8|NM_001384647.1" +HGNC:31459 SNRPD2P1 small nuclear ribonucleoprotein D2 pseudogene 1 pseudogene pseudogene Approved 10q23.31 10q23.31 bA478K7.1 SNRPD2P small nuclear ribonucleoprotein D2 pseudogene 2004-05-27 2010-06-28 2010-06-28 2014-11-19 119358 ENSG00000228938 OTTHUMG00000018727 NG_023172 PGOHUM00000238885 HGNC:31459 +HGNC:38598 SNRPD2P2 small nuclear ribonucleoprotein D2 pseudogene 2 pseudogene pseudogene Approved 1q42.2 01q42.2 2010-06-28 2014-11-19 645339 ENSG00000223982 OTTHUMG00000039489 NR_033826 PGOHUM00000244478 HGNC:38598 +HGNC:11160 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "SMD3|Sm-D3" "small nuclear ribonucleoprotein D3 polypeptide (18kD)|small nuclear ribonucleoprotein D3 polypeptide 18kDa" Sm spliceosomal proteins 1255 1995-04-26 2015-11-09 2015-11-09 6634 ENSG00000100028 OTTHUMG00000150727 uc003aam.3 U15009 NM_004175 CCDS13828 P62318 "1701240|7527560" MGI:1914582 RGD:1597573 601062 HGNC:11160 "ENST00000215829.8|NM_004175.5" +HGNC:11161 SNRPE small nuclear ribonucleoprotein polypeptide E protein-coding gene gene with protein product Approved 1q32.1 01q32.1 Sm-E Sm spliceosomal proteins 1255 1988-11-28 2016-10-05 6635 ENSG00000182004 OTTHUMG00000035985 uc001hai.4 M37716 NM_003094 CCDS30979 P62304 "1835977|2143747" MGI:98346 RGD:2321675 128260 322852 HGNC:11161 "ENST00000414487.7|NM_003094.4" HGNC:11161 +HGNC:35244 SNRPEP1 SNRPE pseudogene 1 pseudogene pseudogene Approved 5q33.3 05q33.3 small nuclear ribonucleoprotein polypeptide E pseudogene 1 2008-10-30 2019-12-19 2019-12-19 100129454 M65126 NG_008773 1839226 HGNC:35244 +HGNC:20733 SNRPEP2 SNRPE pseudogene 2 pseudogene pseudogene Approved 9p24.1 09p24.1 bA390F4.4 SNRPEL1 "small nuclear ribonucleoprotein polypeptide E-like 1|small nuclear ribonucleoprotein polypeptide E pseudogene 2" 2004-05-27 2011-11-09 2019-12-19 2019-12-19 414153 ENSG00000256968 OTTHUMG00000019531 NG_006656 HGNC:20733 +HGNC:43445 SNRPEP3 SNRPE pseudogene 3 pseudogene pseudogene Approved 16p12.3 16p12.3 small nuclear ribonucleoprotein polypeptide E pseudogene 3 2011-11-10 2019-12-19 2019-12-19 100129329 ENSG00000227624 OTTHUMG00000177692 NG_008888 PGOHUM00000248750 HGNC:43445 +HGNC:43446 SNRPEP4 SNRPE pseudogene 4 pseudogene pseudogene Approved 19p13.3 19p13.3 small nuclear ribonucleoprotein polypeptide E pseudogene 4 2011-11-10 2019-12-19 2019-12-19 100130109 ENSG00000233270 OTTHUMG00000186872 NG_023307 HGNC:43446 +HGNC:43447 SNRPEP5 SNRPE pseudogene 5 pseudogene pseudogene Approved 2p25.1 02p25.1 small nuclear ribonucleoprotein polypeptide E pseudogene 5 2011-11-10 2019-12-19 2019-12-19 100874413 ENSG00000225642 OTTHUMG00000151628 NG_032554 PGOHUM00000240576 HGNC:43447 +HGNC:43571 SNRPEP6 SNRPE pseudogene 6 pseudogene pseudogene Approved 6q24.3 06q24.3 small nuclear ribonucleoprotein polypeptide E pseudogene 6 2011-11-10 2019-12-19 2019-12-19 100874414 ENSG00000217824 OTTHUMG00000015775 NG_032556 PGOHUM00000243411 HGNC:43571 +HGNC:43572 SNRPEP7 SNRPE pseudogene 7 pseudogene pseudogene Approved 1p36.11 01p36.11 small nuclear ribonucleoprotein polypeptide E pseudogene 7 2011-11-10 2019-12-19 2019-12-19 100874415 ENSG00000225990 OTTHUMG00000004281 NG_032557 PGOHUM00000244648 HGNC:43572 +HGNC:43573 SNRPEP8 SNRPE pseudogene 8 pseudogene pseudogene Approved 10q21.1 10q21.1 small nuclear ribonucleoprotein polypeptide E pseudogene 8 2011-11-10 2019-12-19 2019-12-19 100874423 ENSG00000231399 OTTHUMG00000018256 NG_032558 PGOHUM00000238801 HGNC:43573 +HGNC:43574 SNRPEP9 SNRPE pseudogene 9 pseudogene pseudogene Approved Xp22.11 Xp22.11 small nuclear ribonucleoprotein polypeptide E pseudogene 9 2011-11-10 2019-12-19 2019-12-19 100874416 ENSG00000214124 OTTHUMG00000021268 NG_016762 PGOHUM00000241667 HGNC:43574 +HGNC:43575 SNRPEP10 SNRPE pseudogene 10 pseudogene pseudogene Approved 1q41 01q41 small nuclear ribonucleoprotein polypeptide E pseudogene 10 2011-11-10 2019-12-19 2019-12-19 100874424 ENSG00000227002 OTTHUMG00000037377 NG_032560 PGOHUM00000244445 HGNC:43575 +HGNC:54746 SNRPEP11 SNRPE pseudogene 11 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-12-19 2019-12-19 107985907 ENSG00000230299 +HGNC:11162 SNRPF small nuclear ribonucleoprotein polypeptide F protein-coding gene gene with protein product Approved 12q23.1 12q23.1 Sm-F Sm spliceosomal proteins 1255 1990-06-13 2011-10-11 6636 ENSG00000139343 OTTHUMG00000170351 uc001tej.5 X85372 NM_003095 CCDS9055 P62306 7744013 MGI:1917128 RGD:1588229 603541 HGNC:11162 "ENST00000266735.10|NM_003095.5" +HGNC:55452 SNRPF-DT SNRPF divergent transcript non-coding RNA RNA, long non-coding Approved 12q22 12q22 Divergent transcripts 1990 2021-01-20 2021-01-20 105369921 ENSG00000258343 NR_135014 +HGNC:16551 SNRPFP1 small nuclear ribonucleoprotein polypeptide F pseudogene 1 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ1041C10.2 2001-09-17 2011-03-22 170550 ENSG00000231878 OTTHUMG00000032701 AL162615 NG_001056 PGOHUM00000247558 HGNC:16551 +HGNC:39665 SNRPFP2 small nuclear ribonucleoprotein polypeptide F pseudogene 2 pseudogene pseudogene Approved 1p36.11 01p36.11 2011-03-22 2014-11-18 100874411 ENSG00000229786 OTTHUMG00000156992 NG_032338 PGOHUM00000244640 HGNC:39665 +HGNC:39666 SNRPFP3 small nuclear ribonucleoprotein polypeptide F pseudogene 3 pseudogene pseudogene Approved 13q21.33 13q21.33 2011-03-22 2014-11-18 100874422 ENSG00000225501 OTTHUMG00000017051 NG_032339 PGOHUM00000248429 HGNC:39666 +HGNC:39667 SNRPFP4 small nuclear ribonucleoprotein polypeptide F pseudogene 4 pseudogene pseudogene Approved 3p21.31 03p21.31 2011-03-22 2014-11-18 100874412 ENSG00000235627 OTTHUMG00000156827 NG_032340 PGOHUM00000238027 HGNC:39667 +HGNC:11163 SNRPG small nuclear ribonucleoprotein polypeptide G protein-coding gene gene with protein product Approved 2p13.3 02p13.3 Sm-G Sm spliceosomal proteins 1255 1990-06-13 2015-09-02 6637 ENSG00000143977 OTTHUMG00000129670 uc002sgp.4 X85373 NM_001317165 "CCDS1903|CCDS82463|CCDS82462|CCDS82461" P62308 7744013 MGI:1915261 RGD:1584713 603542 HGNC:11163 "ENST00000272348.7|NM_003096.4" +HGNC:20033 SNRPGP1 small nuclear ribonucleoprotein polypeptide G pseudogene 1 pseudogene pseudogene Approved 14q22.1 14q22.1 SNRPGP small nuclear ribonucleoprotein polypeptide G pseudogene 2003-01-13 2010-11-29 2010-11-29 2014-11-19 326272 ENSG00000258577 OTTHUMG00000170979 NG_009028 PGOHUM00000247798 HGNC:20033 +HGNC:30999 SNRPGP2 small nuclear ribonucleoprotein polypeptide G pseudogene 2 pseudogene pseudogene Approved 18q21.2 18q21.2 HsT2742 2004-01-05 2020-04-20 100130003 ENSG00000264350 OTTHUMG00000179764 NG_027990 PGOHUM00000294668 HGNC:30999 +HGNC:39322 SNRPGP3 small nuclear ribonucleoprotein polypeptide G pseudogene 3 pseudogene pseudogene Approved 7q32.1 07q32.1 2010-11-29 2010-11-29 100874407 ENSG00000239919 OTTHUMG00000157694 NG_032250 PGOHUM00000233568 HGNC:39322 +HGNC:39323 SNRPGP4 small nuclear ribonucleoprotein polypeptide G pseudogene 4 pseudogene pseudogene Approved 17q24.3 17q24.3 2010-11-29 2017-10-26 100130368 ENSG00000267203 OTTHUMG00000180310 NG_034199 PGOHUM00000294540 HGNC:39323 +HGNC:39324 SNRPGP5 small nuclear ribonucleoprotein polypeptide G pseudogene 5 pseudogene pseudogene Approved 10p13 10p13 2010-11-29 2010-11-29 100874418 ENSG00000235763 OTTHUMG00000017684 NG_032251 PGOHUM00000238351 HGNC:39324 +HGNC:39325 SNRPGP6 small nuclear ribonucleoprotein polypeptide G pseudogene 6 pseudogene pseudogene Approved 10q25.3 10q25.3 2010-11-29 2010-11-29 100861574 ENSG00000205433 OTTHUMG00000019099 NG_032066 PGOHUM00000238930 HGNC:39325 +HGNC:39326 SNRPGP7 small nuclear ribonucleoprotein polypeptide G pseudogene 7 pseudogene pseudogene Approved 2p23.2 02p23.2 2010-11-29 2010-11-29 100874408 ENSG00000242915 OTTHUMG00000159107 NG_032252 PGOHUM00000240004 HGNC:39326 +HGNC:39327 SNRPGP8 small nuclear ribonucleoprotein polypeptide G pseudogene 8 pseudogene pseudogene Approved 2q36.3 02q36.3 2010-11-29 2010-11-29 100874409 ENSG00000226718 OTTHUMG00000153554 NG_032253 PGOHUM00000240542 HGNC:39327 +HGNC:39328 SNRPGP9 small nuclear ribonucleoprotein polypeptide G pseudogene 9 pseudogene pseudogene Approved 2q13 02q13 2010-11-29 2016-10-05 100506574 ENSG00000228551 OTTHUMG00000153438 NG_028932 PGOHUM00000240843 HGNC:39328 +HGNC:39329 SNRPGP10 small nuclear ribonucleoprotein polypeptide G pseudogene 10 pseudogene pseudogene Approved 1q32.1 01q32.1 2010-11-29 2010-11-29 100130289 ENSG00000235363 OTTHUMG00000037198 NG_028930 PGOHUM00000245176 HGNC:39329 +HGNC:39330 SNRPGP11 small nuclear ribonucleoprotein polypeptide G pseudogene 11 pseudogene pseudogene Approved 13q14.3 13q14.3 2010-11-29 2010-11-29 100874426 ENSG00000229906 OTTHUMG00000016947 NG_032254 PGOHUM00000248401 HGNC:39330 +HGNC:39331 SNRPGP12 small nuclear ribonucleoprotein polypeptide G pseudogene 12 pseudogene pseudogene Approved 10q25.2 10q25.2 2010-11-29 2016-10-05 100874427 ENSG00000226734 OTTHUMG00000019031 NG_032255 PGOHUM00000258505 HGNC:39331 +HGNC:39332 SNRPGP13 small nuclear ribonucleoprotein polypeptide G pseudogene 13 pseudogene pseudogene Approved 21q22.2 21q22.2 2010-11-29 2013-10-18 100874428 ENSG00000231480 OTTHUMG00000090770 NG_032256 PGOHUM00000259676 HGNC:39332 +HGNC:42039 SNRPGP14 small nuclear ribonucleoprotein polypeptide G pseudogene 14 pseudogene pseudogene Approved 13q14.2 13q14.2 2011-06-01 2013-10-18 100874434 ENSG00000236577 OTTHUMG00000016917 NG_032395 HGNC:42039 +HGNC:49371 SNRPGP15 small nuclear ribonucleoprotein polypeptide G pseudogene 15 pseudogene pseudogene Approved 19p13.12 19p13.12 2013-10-18 2013-10-18 2014-02-12 100130932 ENSG00000224543 OTTHUMG00000183288 NG_029827 A8MWD9 MGI:3643110 RGD:1583028 PGOHUM00000234525 HGNC:49371 +HGNC:49373 SNRPGP16 small nuclear ribonucleoprotein polypeptide G pseudogene 16 pseudogene pseudogene Approved 11q14.3 11q14.3 2013-10-18 2013-10-18 106480270 ENSG00000255287 OTTHUMG00000167362 NG_044022 PGOHUM00000242859 HGNC:49373 +HGNC:49372 SNRPGP17 small nuclear ribonucleoprotein polypeptide G pseudogene 17 pseudogene pseudogene Approved 17q22 17q22 2013-10-18 2013-10-18 106481685 ENSG00000271063 OTTHUMG00000184894 NG_043079 PGOHUM00000237448 HGNC:49372 +HGNC:49374 SNRPGP18 small nuclear ribonucleoprotein polypeptide G pseudogene 18 pseudogene pseudogene Approved 12q24.21 12q24.21 2013-10-18 2013-10-18 2014-02-12 106480680 ENSG00000257979 OTTHUMG00000169455 NG_023366 PGOHUM00000239938 HGNC:49374 +HGNC:49375 SNRPGP19 small nuclear ribonucleoprotein polypeptide G pseudogene 19 pseudogene pseudogene Approved 11q13.1 11q13.1 2013-10-18 2013-10-18 106481686 ENSG00000270526 OTTHUMG00000184809 NG_043091 PGOHUM00000242330 HGNC:49375 +HGNC:49376 SNRPGP20 small nuclear ribonucleoprotein polypeptide G pseudogene 20 pseudogene pseudogene Approved 12q21.31 12q21.31 2013-10-18 2013-10-18 106480271 ENSG00000271496 OTTHUMG00000184774 NG_044031 PGOHUM00000239527 HGNC:49376 +HGNC:11164 SNRPN small nuclear ribonucleoprotein polypeptide N protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "SMN|SM-D|HCERN3|SNRNP-N|SNURF-SNRPN|RT-LI" "tissue-specific splicing protein|SM protein N|small nuclear ribonucleoprotein N" PWCR Prader-Willi syndrome chromosome region Sm spliceosomal proteins 1255 1992-08-24 2014-11-18 6638 ENSG00000128739 OTTHUMG00000129180 uc001ywp.1 L80005 NM_003097 CCDS10017 P63162 1533223 MGI:98347 RGD:621306 182279 119771 HGNC:11164 "ENST00000390687.9|NM_003097.6" +HGNC:11167 SNTA1 syntrophin alpha 1 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "TACIP1|LQT12" "pro-TGF-alpha cytoplasmic domain-interacting protein 1|dystrophin-associated protein A1, 59kDa, acidic component" SNT1 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component) PDZ domain containing 1220 1994-12-14 2016-01-14 2021-04-13 6640 ENSG00000101400 OTTHUMG00000032259 uc002wzd.2 U40571 NM_003098 CCDS13220 Q13424 "8576247|8612778" MGI:101772 RGD:1307068 "SNTA1 database at LOVD-China|http://genomed.org/LOVD/LQTs/home.php?select_db=SNTA1|LRG_332|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_332.xml" 601017 218358 HGNC:11167 "ENST00000217381.3|NM_003098.3" HGNC:11167 +HGNC:11168 SNTB1 syntrophin beta 1 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "59-DAP|A1B|BSYN2|TIP-43|SNT2" tax interaction protein 43 SNT2B1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) "Pleckstrin homology domain containing|PDZ domain containing" "682|1220" 1994-12-14 2016-01-14 2016-10-05 6641 ENSG00000172164 OTTHUMG00000165041 uc010mdg.4 AF028828 NM_021021 CCDS6334 Q13884 "8183929|9482110" MGI:101781 RGD:1307728 600026 HGNC:11168 "ENST00000517992.2|NM_021021.4" +HGNC:11169 SNTB2 syntrophin beta 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "EST25263|SNT3" "SNT2B2|SNTL|D16S2531E" syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) PDZ domain containing 1220 1994-12-14 2016-01-14 2016-01-14 6645 ENSG00000168807 OTTHUMG00000137567 uc002ewu.4 U40572 NM_006750 CCDS10873 Q13425 "8576247|8183929" MGI:101771 RGD:1592340 600027 HGNC:11169 "ENST00000336278.9|NM_006750.4" +HGNC:13740 SNTG1 syntrophin gamma 1 protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "SYN4|G1SYN" Gamma-1-syntrophin PDZ domain containing 1220 2000-10-20 2016-01-14 2016-12-13 54212 ENSG00000147481 OTTHUMG00000164257 uc010lxy.3 AJ003030 NM_001287813 "CCDS75737|CCDS87608|CCDS6147" Q9NSN8 10747910 MGI:1918346 RGD:1560290 608714 HGNC:13740 "ENST00000642720.2|NM_018967.5" +HGNC:13741 SNTG2 syntrophin gamma 2 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "SYN5|G2SYN" PDZ domain containing 1220 2000-10-20 2016-01-14 2016-10-05 54221 ENSG00000172554 OTTHUMG00000151370 uc002qwq.4 AJ003029 NM_018968 CCDS46220 Q9NY99 10747910 MGI:1919541 RGD:1311276 608715 HGNC:13741 "ENST00000308624.10|NM_018968.4" +HGNC:54058 SNTG2-AS1 SNTG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 Antisense RNAs 1987 2018-09-27 2018-09-27 2018-09-27 2018-09-27 101060391 ENSG00000235688 NR_136151 HGNC:54058 +HGNC:33706 SNTN sentan, cilia apical structure protein protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "FLJ44379|S100AL" S100A-like protein 2009-03-10 2009-03-10 2015-08-26 132203 ENSG00000188817 OTTHUMG00000158766 uc003dlr.4 AK126350 NM_001080537 CCDS33779 A6NMZ2 18829862 MGI:3045373 RGD:1562356 617832 HGNC:33706 "ENST00000343837.8|NM_001080537.2" +HGNC:7819 SNU13 small nuclear ribonucleoprotein 13 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "FA-1|SPAG12|SNRNP15-5|15.5K" small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5) "SSFA1|NHP2L1" "non-histone chromosome protein 2 (S. cerevisiae)-like 1|sperm specific antigen 1|NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)|SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5)" "U3 small nucleolar ribonucleoprotein|U4/U6 small nuclear ribonucleoprotein " "1485|1502" 1995-06-14 2015-07-10 2017-03-13 2021-04-13 4809 ENSG00000100138 OTTHUMG00000151189 NM_001003796 "CCDS14022|CCDS33653" P55769 "8978773|17412961|17636026" MGI:893586 RGD:1303103 LRG_1102|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1102.xml 601304 HGNC:7819 "ENST00000401959.6|NM_001003796.2" +HGNC:14245 SNUPN snurportin 1 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "SNURPORTIN-1|Snurportin1" RNUT1 RNA, U transporter 1 2001-01-10 2006-07-14 2006-07-14 2014-11-19 10073 ENSG00000169371 OTTHUMG00000142833 uc002baq.4 AF039029 NM_005701 CCDS10281 O95149 9670026 MGI:1913319 RGD:1303191 607902 HGNC:14245 "ENST00000308588.10|NM_005701.4" +HGNC:11171 SNURF SNRPN upstream open reading frame protein-coding gene gene with protein product Approved 15q11.2 15q11.2 SNRPN upstream reading frame 1999-01-07 2021-03-11 2021-03-11 8926 ENSG00000273173 OTTHUMG00000186421 uc001ywu.4 NM_005678 CCDS10016 Q9Y675 10318933 MGI:1891236 RGD:69269 HGNC:11171 +HGNC:29543 SNURFL SNRPN upstream open reading frame like (pseudogene) pseudogene pseudogene Approved Xq27.1 Xq27.1 CXorf19 "chromosome X open reading frame 19|SNRPN upstream reading frame-like|SNRPN upstream reading frame like (pseudogene)" 2006-06-30 2010-12-08 2021-03-11 2021-03-11 727686 ENSG00000173954 OTTHUMG00000022534 NG_005696 B1AK76 HGNC:29543 +HGNC:16696 SNW1 SNW domain containing 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "NCoA-62|SKIP|Prp45|PRPF45|Bx42|SKIP1|FUN20" SKIIP SKI interacting protein "NTC associated proteins|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1498|1507|1508|1510|1516" 2004-05-25 2005-09-13 2005-09-13 2017-06-14 22938 ENSG00000100603 OTTHUMG00000171527 uc001xuf.4 AF045184 NM_012245 "CCDS9867|CCDS81830" Q13573 "8973337|9632709" MGI:1913604 RGD:1561926 603055 HGNC:16696 "ENST00000261531.12|NM_012245.3" +HGNC:11172 SNX1 sorting nexin 1 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "SNX1A|MGC8664|HsT17379|Vps5" "Sorting nexins|PX-BAR domain containing" "754|1290" 1996-07-17 2015-08-26 6642 ENSG00000028528 OTTHUMG00000172436 uc059keu.1 BC000357 NM_003099 "CCDS58371|CCDS32268|CCDS32266" Q13596 8638121 MGI:1928395 RGD:68935 601272 HGNC:11172 "ENST00000559844.6|NM_003099.5" +HGNC:11173 SNX2 sorting nexin 2 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "Sorting nexins|PX-BAR domain containing" "754|1290" 1996-07-17 2015-08-26 6643 ENSG00000205302 OTTHUMG00000163020 uc003kte.5 AF043453 NM_003100 "CCDS64234|CCDS34217" O60749 9819414 MGI:1915054 RGD:1310291 605929 HGNC:11173 "ENST00000379516.7|NM_003100.4" +HGNC:41514 SNX2P1 sorting nexin 2 pseudogene 1 pseudogene pseudogene Approved 1q41 01q41 2011-05-03 2020-04-06 100418968 ENSG00000270585 OTTHUMG00000184471 NG_015837 PGOHUM00000245208 HGNC:41514 +HGNC:41515 SNX2P2 sorting nexin 2 pseudogene 2 pseudogene pseudogene Approved 7p14.3 07p14.3 2011-05-03 2011-05-03 100873785 ENSG00000236460 OTTHUMG00000152897 NG_032371 PGOHUM00000250928 HGNC:41515 +HGNC:11174 SNX3 sorting nexin 3 protein-coding gene gene with protein product Approved 6q21 06q21 Grd19 Sorting nexins 754 1999-02-16 2021-05-26 8724 ENSG00000112335 OTTHUMG00000015323 uc003psh.4 AF034546 NM_001300928 "CCDS5065|CCDS75501|CCDS5064" O60493 9819414 MGI:1860188 RGD:1595151 605930 HGNC:11174 "ENST00000230085.13|NM_003795.6" HGNC:11174 +HGNC:41516 SNX3P1X sorting nexin 3 pseudogene 1 X-linked pseudogene pseudogene Approved Xq21.31 Xq21.31 2011-05-03 2018-04-26 2018-04-26 100873884 ENSG00000230543 OTTHUMG00000021967 NG_032372 PGOHUM00000241445 HGNC:41516 +HGNC:41517 SNX3P1Y sorting nexin 3 pseudogene 1 Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 2011-05-03 2018-04-26 2018-04-26 100873885 ENSG00000278585 OTTHUMG00000187995 NG_032373 PGOHUM00000305422 HGNC:41517 +HGNC:11175 SNX4 sorting nexin 4 protein-coding gene gene with protein product Approved 3q21.2 03q21.2 ATG24B "Sorting nexins|Autophagy related|PX-BAR domain containing" "754|1022|1290" 1999-02-16 2014-02-12 8723 ENSG00000114520 OTTHUMG00000159575 uc003eib.5 AF065485 NM_003794 CCDS3032 O95219 9819414 MGI:1916400 RGD:1309763 605931 HGNC:11175 "ENST00000251775.9|NM_003794.4" +HGNC:14969 SNX5 sorting nexin 5 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "Sorting nexins|PX-BAR domain containing|Small nucleolar RNA protein coding host genes" "754|1290|1835" 2001-04-10 2016-10-05 27131 ENSG00000089006 OTTHUMG00000031953 uc002wqd.5 AF121855 NM_001282454 CCDS13130 Q9Y5X3 "10600472|17148574" MGI:1916428 RGD:1310190 605937 HGNC:14969 "ENST00000377759.9|NM_014426.4" +HGNC:41512 SNX5P1 sorting nexin 5 pseudogene 1 pseudogene pseudogene Approved 4q21.1 04q21.1 2011-05-03 2011-05-03 100131940 ENSG00000249858 OTTHUMG00000160833 NG_009130 PGOHUM00000245967 HGNC:41512 +HGNC:41513 SNX5P2 sorting nexin 5 pseudogene 2 pseudogene pseudogene Approved 12q23.1 12q23.1 2011-05-03 2020-04-06 728467 ENSG00000258033 OTTHUMG00000170498 NG_009120 PGOHUM00000239905 HGNC:41513 +HGNC:14970 SNX6 sorting nexin 6 protein-coding gene gene with protein product Approved 14q13.1 14q13.1 "Sorting nexins|PX-BAR domain containing" "754|1290" 2001-04-10 2016-10-05 58533 ENSG00000129515 OTTHUMG00000140213 uc001wsf.2 AF121856 NM_001366519 CCDS9648 Q9UNH7 11279102 MGI:1919433 RGD:1304647 606098 HGNC:14970 "ENST00000362031.10|NM_152233.4" +HGNC:41511 SNX6P1 sorting nexin 6 pseudogene 1 pseudogene pseudogene Approved 19p12 19p12 2011-05-03 2016-07-25 126506 ENSG00000267920 OTTHUMG00000183229 NG_002348 PGOHUM00000294958 HGNC:41511 +HGNC:14971 SNX7 sorting nexin 7 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 "Sorting nexins|PX-BAR domain containing" "754|1290" 2001-04-10 2016-10-05 51375 ENSG00000162627 OTTHUMG00000010723 uc010ouc.3 AF121857 NM_001364903 "CCDS755|CCDS756" Q9UNH6 MGI:1923811 RGD:1305480 614904 HGNC:14971 "ENST00000306121.8|NM_015976.5" +HGNC:14972 SNX8 sorting nexin 8 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 Mvp1 "Sorting nexins|PX-BAR domain containing|MicroRNA protein coding host genes" "754|1290|1691" 2001-04-10 2015-08-26 29886 ENSG00000106266 OTTHUMG00000151512 uc003slw.3 AF121858 NM_013321 CCDS5331 Q9Y5X2 MGI:2443816 RGD:1305791 614905 HGNC:14972 "ENST00000222990.8|NM_013321.4" +HGNC:14973 SNX9 sorting nexin 9 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "SH3PX1|SDP1|SH3PXD3A" "Sorting nexins|PX-BAR domain containing" "754|1290" 2001-04-10 2015-02-02 51429 ENSG00000130340 OTTHUMG00000015903 uc063smv.1 AF121859 NM_016224 CCDS5253 Q9Y5X1 "10531379|17609109" MGI:1913866 RGD:1584466 605952 HGNC:14973 "ENST00000392185.8|NM_016224.5" +HGNC:40699 SNX9-AS1 SNX9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 Antisense RNAs 1987 2020-03-27 2020-03-27 105378078 ENSG00000236324 OTTHUMG00000015900 XR_943168 +HGNC:14974 SNX10 sorting nexin 10 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 Sorting nexins 754 2001-04-10 2021-05-26 29887 ENSG00000086300 OTTHUMG00000023650 uc010kuu.4 AF121860 NM_001199835 "CCDS56470|CCDS5399" Q9Y5X0 17012226 MGI:1919232 RGD:1305782 614780 299652 HGNC:14974 "ENST00000338523.9|NM_013322.3" HGNC:14974 +HGNC:55845 SNX10-AS1 SNX10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 Antisense RNAs 1987 2021-08-12 2021-08-12 105375304 ENSG00000225792 NR_136270 +HGNC:14975 SNX11 sorting nexin 11 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 Sorting nexins 754 2001-04-10 2011-05-03 29916 ENSG00000002919 OTTHUMG00000178822 uc002inf.2 AF121861 NM_001330320 "CCDS11526|CCDS82152" Q9Y5W9 MGI:1921729 RGD:1307319 614906 HGNC:14975 "ENST00000359238.7|NM_013323.3" +HGNC:14976 SNX12 sorting nexin 12 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 Sorting nexins 754 2001-04-10 2015-09-02 29934 ENSG00000147164 OTTHUMG00000021786 uc031tjx.2 AF171229 NM_013346 "CCDS14405|CCDS59169" Q9UMY4 MGI:1919331 RGD:1565585 300883 HGNC:14976 "ENST00000374274.8|NM_013346.4" +HGNC:21335 SNX13 sorting nexin 13 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "RGS-PX1|KIAA0713" Sorting nexins 754 2003-09-04 2014-11-19 23161 ENSG00000071189 OTTHUMG00000152730 uc003stv.4 AF420470 NM_015132 "CCDS47551|CCDS87483" Q9Y5W8 "11485546|11729322" MGI:2661416 RGD:1309778 606589 HGNC:21335 "ENST00000428135.7|NM_015132.5" +HGNC:14977 SNX14 sorting nexin 14 protein-coding gene gene with protein product Approved 6q14.3 06q14.3 RGS-PX2 Sorting nexins 754 2003-09-04 2021-05-26 57231 ENSG00000135317 OTTHUMG00000015140 uc003pkr.4 AF121863 NM_153816 "CCDS5004|CCDS78163|CCDS5003|CCDS75490" Q9Y5W7 "11485546|11736640" MGI:2155664 RGD:1310921 616105 418210 HGNC:14977 "ENST00000314673.8|NM_153816.6" HGNC:14977 +HGNC:14978 SNX15 sorting nexin 15 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 Sorting nexins 754 2001-04-10 2016-10-05 29907 ENSG00000110025 OTTHUMG00000037387 uc058dcd.1 AF175267 NM_013306 "CCDS8090|CCDS8089" Q9NRS6 11208079 MGI:1916274 RGD:1305803 605964 HGNC:14978 "ENST00000377244.8|NM_013306.5" +HGNC:14980 SNX16 sorting nexin 16 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 Sorting nexins 754 2003-09-05 2015-08-26 64089 ENSG00000104497 OTTHUMG00000164727 uc011lft.3 AF305779 NM_022133 "CCDS6234|CCDS6235" P57768 "12461558|12813048" MGI:1921968 RGD:620295 614903 HGNC:14980 "ENST00000345957.9|NM_152836.3" +HGNC:14979 SNX17 sorting nexin 17 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 KIAA0064 Sorting nexins 754 2001-04-10 2015-02-16 9784 ENSG00000115234 OTTHUMG00000097781 uc002rkg.3 D31764 NM_014748 "CCDS1750|CCDS58704" Q15036 "12169628|15769472" MGI:2387801 RGD:1306424 605963 471124 HGNC:14979 "ENST00000233575.7|NM_014748.4" +HGNC:19245 SNX18 sorting nexin 18 protein-coding gene gene with protein product Approved 5q11.2 05q11.2 "SH3PX2|SH3PXD3B" SNAG1 sorting nexin associated golgi protein 1 "Sorting nexins|PX-BAR domain containing" "754|1290" 2002-09-18 2008-03-11 2008-03-11 2014-11-18 112574 ENSG00000178996 OTTHUMG00000096994 uc003jpi.5 AF395536 NM_001102575 "CCDS43317|CCDS3962|CCDS54851" Q96RF0 "16782399|17761170" MGI:2137642 RGD:1310367 HGNC:19245 "ENST00000381410.5|NM_001102575.2" +HGNC:38442 SNX18P1Y sorting nexin 18 pseudogene 1, Y-linked pseudogene pseudogene Approved Yq11.21 Yq11.21 2011-03-17 2015-03-05 100418999 ENSG00000274162 OTTHUMG00000188067 NG_024792 PGOHUM00000305640 HGNC:38442 +HGNC:39610 SNX18P2 sorting nexin 18 pseudogene 2 pseudogene pseudogene Approved 9q22.31 09q22.31 2011-03-17 2014-11-19 642952 ENSG00000232843 OTTHUMG00000020235 NG_005963 PGOHUM00000236266 HGNC:39610 +HGNC:39611 SNX18P3 sorting nexin 18 pseudogene 3 pseudogene pseudogene Approved 9p13.1 09p13.1 2011-03-17 2014-11-19 100418975 ENSG00000225345 OTTHUMG00000019946 NG_023808 PGOHUM00000236039 HGNC:39611 +HGNC:39612 SNX18P4 sorting nexin 18 pseudogene 4 pseudogene pseudogene Approved 9q21.11 09q21.11 2011-03-17 2016-10-05 100418976 ENSG00000229146 OTTHUMG00000188430 NG_023820 PGOHUM00000303908 HGNC:39612 +HGNC:39613 SNX18P5 sorting nexin 18 pseudogene 5 pseudogene pseudogene Approved 9p11.1 09p11.1 SNX18P6 sorting nexin 18 pseudogene 6 2011-03-17 2015-03-05 100418977 ENSG00000275144 OTTHUMG00000188574 NG_023822 PGOHUM00000304229 HGNC:39613 +HGNC:39615 SNX18P7 sorting nexin 18 pseudogene 7 pseudogene pseudogene Approved 9p13.3 09p13.3 2011-03-17 2014-11-19 100418980 ENSG00000234373 OTTHUMG00000000409 NG_023890 PGOHUM00000236435 HGNC:39615 +HGNC:39616 SNX18P8 sorting nexin 18 pseudogene 8 pseudogene pseudogene Approved 9p11.2 09p11.2 2011-03-17 2016-10-05 100418981 ENSG00000231390 OTTHUMG00000066716 NG_023901 PGOHUM00000236503 HGNC:39616 +HGNC:39617 SNX18P9 sorting nexin 18 pseudogene 9 pseudogene pseudogene Approved 9q13 09q13 2011-03-17 2016-10-05 644576 ENSG00000224185 OTTHUMG00000034632 NG_006123 PGOHUM00000236614 HGNC:39617 +HGNC:39618 SNX18P10 sorting nexin 18 pseudogene 10 pseudogene pseudogene Approved 21p11.2 21p11.2 2011-03-17 2015-03-05 100419040 ENSG00000279213 OTTHUMG00000189477 NG_025018 PGOHUM00000297188 HGNC:39618 +HGNC:39619 SNX18P11 sorting nexin 18 pseudogene 11 pseudogene pseudogene Approved 21p11.2 21p11.2 2011-03-17 2015-03-05 100419043 NG_025050 PGOHUM00000297317 HGNC:39619 +HGNC:39620 SNX18P12 sorting nexin 18 pseudogene 12 pseudogene pseudogene Approved 21p11.2 21p11.2 2011-03-17 2015-03-05 100419041 ENSG00000279718 OTTHUMG00000189482 NG_025020 PGOHUM00000297194 HGNC:39620 +HGNC:39621 SNX18P13 sorting nexin 18 pseudogene 13 pseudogene pseudogene Approved 21q11.2 21q11.2 2011-03-17 2014-11-19 100419042 ENSG00000230965 OTTHUMG00000155490 NG_025024 PGOHUM00000239138 HGNC:39621 +HGNC:39622 SNX18P14 sorting nexin 18 pseudogene 14 pseudogene pseudogene Approved 2q11.1 02q11.1 2011-03-17 2014-11-19 100418972 ENSG00000235571 OTTHUMG00000155128 NG_023589 PGOHUM00000240186 HGNC:39622 +HGNC:39623 SNX18P15 sorting nexin 18 pseudogene 15 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-03-17 2015-01-30 100419019 NG_026981 PGOHUM00000244173 +HGNC:39624 SNX18P16 sorting nexin 18 pseudogene 16 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-03-17 2015-01-30 100419020 NG_026982 PGOHUM00000244886 +HGNC:39625 SNX18P17 sorting nexin 18 pseudogene 17 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-03-17 2014-11-19 100419024 NG_027137 PGOHUM00000244181 +HGNC:39626 SNX18P18 sorting nexin 18 pseudogene 18 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-03-17 2014-11-19 100419021 NG_026983 PGOHUM00000244182 +HGNC:39627 SNX18P19 sorting nexin 18 pseudogene 19 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-03-17 2014-11-19 100419022 NG_026984 PGOHUM00000244184 +HGNC:39628 SNX18P20 sorting nexin 18 pseudogene 20 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-03-17 2014-11-18 100419026 NG_027139 PGOHUM00000244905 +HGNC:39629 SNX18P21 sorting nexin 18 pseudogene 21 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-03-17 2014-11-19 100419025 NG_027138 PGOHUM00000244898 +HGNC:39630 SNX18P22 sorting nexin 18 pseudogene 22 pseudogene pseudogene Approved 1q21.1 01q21.1 2011-03-17 2014-11-18 100419027 NG_027140 PGOHUM00000244907 +HGNC:39631 SNX18P23 sorting nexin 18 pseudogene 23 pseudogene pseudogene Approved 4p11 04p11 2011-03-17 2014-11-19 100132617 ENSG00000250016 OTTHUMG00000163198 NG_028187 PGOHUM00000245900 HGNC:39631 +HGNC:39632 SNX18P24 sorting nexin 18 pseudogene 24 pseudogene pseudogene Approved 4p11 04p11 2011-03-17 2014-11-19 100419004 ENSG00000251539 OTTHUMG00000160598 NG_025208 PGOHUM00000245529 HGNC:39632 +HGNC:39633 SNX18P25 sorting nexin 18 pseudogene 25 pseudogene pseudogene Approved 4p11 04p11 2011-03-17 2014-11-19 100419005 ENSG00000249337 OTTHUMG00000160593 NG_025209 PGOHUM00000245909 HGNC:39633 +HGNC:39634 SNX18P26 sorting nexin 18 pseudogene 26 pseudogene pseudogene Approved 13q11 13q11 2011-03-17 2014-11-19 100419038 ENSG00000227568 OTTHUMG00000016467 NG_024826 PGOHUM00000248504 HGNC:39634 +HGNC:39635 SNX18P27 sorting nexin 18 pseudogene 27 pseudogene pseudogene Approved 8p11.1 08p11.1 2011-03-17 2014-11-19 100873788 ENSG00000253418 OTTHUMG00000164115 NG_032330 PGOHUM00000249640 HGNC:39635 +HGNC:21532 SNX19 sorting nexin 19 protein-coding gene gene with protein product Approved 11q24.3-q25 11q24.3-q25 "KIAA0254|CHET8" Sorting nexins 754 2003-09-04 2020-04-20 399979 ENSG00000120451 OTTHUMG00000165663 uc001qgk.5 D87443 NM_014758 "CCDS31721|CCDS86261|CCDS73416|CCDS86260" Q92543 MGI:1921581 RGD:1309857 HGNC:21532 "ENST00000265909.9|NM_014758.3" +HGNC:16765 SNX19P1 sorting nexin 19 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 SNX19P sorting nexin 19 pseudogene 2003-10-01 2010-04-20 2010-04-20 2014-11-19 378810 ENSG00000228184 OTTHUMG00000074199 NG_006946 PGOHUM00000258118 HGNC:16765 +HGNC:38115 SNX19P2 sorting nexin 19 pseudogene 2 pseudogene pseudogene Approved 13q11 13q11 2010-04-20 2014-11-19 400094 ENSG00000235500 OTTHUMG00000016471 NG_006945 PGOHUM00000257953 HGNC:38115 +HGNC:38116 SNX19P3 sorting nexin 19 pseudogene 3 pseudogene pseudogene Approved 18p11.21 18p11.21 2010-04-20 2017-10-26 646442 ENSG00000264570 OTTHUMG00000178704 NG_006944 PGOHUM00000294610 HGNC:38116 +HGNC:41510 SNX19P4 sorting nexin 19 pseudogene 4 pseudogene pseudogene Approved 10q22.1 10q22.1 2011-05-03 2020-04-06 100419047 ENSG00000276531 OTTHUMG00000187839 NG_033179 PGOHUM00000238835 HGNC:41510 +HGNC:30390 SNX20 sorting nexin 20 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "SLIC-1|SLIC1" selectin ligand interactor cytoplasmic 1 Sorting nexins 754 2008-03-11 2008-03-25 2014-11-18 124460 ENSG00000167208 OTTHUMG00000133173 uc002egk.3 AK055837 NM_153337 "CCDS10745|CCDS10744|CCDS45481" Q7Z614 "18196517|16782399" MGI:1918857 RGD:1307787 613281 HGNC:30390 "ENST00000330943.9|NM_182854.4" +HGNC:16154 SNX21 sorting nexin family member 21 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ337O18.4|SNX-L" C20orf161 chromosome 20 open reading frame 161 "Sorting nexins|Tetratricopeptide repeat domain containing" "754|769" 2001-07-17 2006-07-24 2006-07-24 2015-08-26 90203 ENSG00000124104 OTTHUMG00000032624 uc002xpv.2 AK095851 NM_033421 "CCDS42883|CCDS13377|CCDS13376" Q969T3 "12461558|12459172" MGI:1917729 RGD:2323753 619200 HGNC:16154 "ENST00000491381.6|NM_033421.4" +HGNC:16315 SNX22 sorting nexin 22 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 FLJ13952 Sorting nexins 754 2003-09-04 2016-10-05 79856 ENSG00000157734 OTTHUMG00000132965 uc002anc.1 AK024014 NM_024798 CCDS10190 Q96L94 "12461558|17400918" MGI:2685966 RGD:1305042 HGNC:16315 "ENST00000325881.9|NM_024798.3" +HGNC:21533 SNX24 sorting nexin 24 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 SBBI31 Sorting nexins 754 2003-09-04 2007-08-15 2014-11-19 28966 ENSG00000064652 OTTHUMG00000128913 uc011cwo.3 AF139461 NM_014035 CCDS4132 Q9Y343 12461558 MGI:1916476 RGD:1306864 HGNC:21533 "ENST00000261369.9|NM_014035.4" +HGNC:21883 SNX25 sorting nexin 25 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 SBBI31 Sorting nexins 754 2003-09-05 2022-01-07 83891 ENSG00000109762 OTTHUMG00000160475 uc063bjp.1 AF113223 NM_031953 CCDS34116 Q9H3E2 "12461558|34821359" MGI:2142610 RGD:1310150 HGNC:21883 "ENST00000652585.2|NM_001378034.2" +HGNC:41509 SNX25P1 sorting nexin 25 pseudogene 1 pseudogene pseudogene Approved 1q32.3 01q32.3 2011-05-03 2011-05-03 100419028 ENSG00000236809 OTTHUMG00000037000 NG_027204 PGOHUM00000245197 HGNC:41509 +HGNC:20073 SNX27 sorting nexin 27 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "MY014|KIAA0488|MGC20471" sorting nexin family member 27 "Sorting nexins|PDZ domain containing" "754|1220" 2003-09-05 2019-04-15 2021-05-26 81609 ENSG00000143376 OTTHUMG00000013052 uc001eyn.2 AB007957 NM_030918 "CCDS1001|CCDS81377" Q96L92 "12461558|29563155" MGI:1923992 RGD:628705 611541 471126 HGNC:20073 "ENST00000458013.7|NM_001330723.2" +HGNC:30542 SNX29 sorting nexin 29 protein-coding gene gene with protein product Approved 16p13.13-p13.12 16p13.13-p13.12 FLJ12363 RUNDC2A RUN domain containing 2A Sorting nexins 754 2008-03-11 2018-02-13 92017 ENSG00000048471 OTTHUMG00000129827 uc002dby.6 AK074072 NM_001376490 CCDS10553 Q8TEQ0 16782399 MGI:1921728 RGD:1596162 HGNC:30542 "ENST00000566228.6|NM_032167.5" +HGNC:31913 SNX29P1 sorting nexin 29 pseudogene 1 pseudogene pseudogene Approved 16p12.2 16p12.2 RUNDC2B RUN domain containing 2B 2005-02-08 2011-08-16 2011-08-16 2014-11-19 100652781 ENSG00000158482 OTTHUMG00000170414 BC041583 NR_045011 PGOHUM00000264445 HGNC:31913 +HGNC:31914 SNX29P2 sorting nexin 29 pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 RUNDC2C RUN domain containing 2C 2005-02-08 2011-08-16 2011-08-16 2015-09-28 440352 ENSG00000271699 OTTHUMG00000184229 BX648280 NR_002939 Q8IUI4 PGOHUM00000293767 HGNC:31914 +HGNC:23685 SNX30 sorting nexin family member 30 protein-coding gene gene with protein product Approved 9q32 09q32 ATG24A "Sorting nexins|Autophagy related|PX-BAR domain containing" "754|1022|1290" 2005-10-06 2020-04-20 401548 ENSG00000148158 OTTHUMG00000020512 uc004bgj.5 AK126644 NM_001012994 CCDS43865 Q5VWJ9 MGI:2443882 RGD:1311367 HGNC:23685 "ENST00000374232.8|NM_001012994.2" +HGNC:55835 SNX30-DT SNX30 divergent transcript non-coding RNA RNA, long non-coding Approved 9q32 09q32 Divergent transcripts 1990 2021-08-02 2021-08-02 122455334 ENSG00000226609 +HGNC:28605 SNX31 sorting nexin 31 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 MGC39715 Sorting nexins 754 2008-03-11 2021-05-26 169166 ENSG00000174226 OTTHUMG00000164725 uc003yjr.4 NM_152628 "CCDS87622|CCDS6288" Q8N9S9 "16782399|24914955" MGI:1913946 RGD:1309483 HGNC:28605 "ENST00000311812.7|NM_152628.4" HGNC:28605 +HGNC:26423 SNX32 sorting nexin 32 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FLJ30934 SNX6B sorting nexin 6B "Sorting nexins|PX-BAR domain containing" "754|1290" 2008-02-25 2008-03-11 2008-03-11 2015-09-02 254122 ENSG00000172803 OTTHUMG00000128491 uc001ofr.4 AK055496 NM_152760 CCDS8113 Q86XE0 16782399 MGI:2444704 RGD:1560591 HGNC:26423 "ENST00000308342.7|NM_152760.3" +HGNC:28468 SNX33 sorting nexin 33 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 "MGC32065|SH3PXD3C|SNX30" SH3PX3 SH3 and PX domain containing 3 PX-BAR domain containing 1290 2005-07-20 2008-03-25 2008-03-25 2016-10-05 257364 ENSG00000173548 OTTHUMG00000142835 uc002bau.4 AK091291 NM_153271 CCDS10283 Q8WV41 "16374509|16782399|18353773" MGI:2443239 RGD:1307898 619107 HGNC:28468 "ENST00000308527.6|NM_153271.2" +HGNC:48590 SNX33P1 sorting nexin 33 pseudogene 1 pseudogene pseudogene Approved 19p13.12 19p13.12 2013-05-21 2015-08-26 100533624 ENSG00000267609 OTTHUMG00000182271 NG_028694 PGOHUM00000294903 HGNC:48590 +HGNC:11177 SOAT1 sterol O-acyltransferase 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "ACAT|ACAT1" acyl-Coenzyme A: cholesterol acyltransferase "SOAT|STAT" sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 1998-11-04 2008-08-26 2021-08-19 6646 ENSG00000057252 OTTHUMG00000035253 uc001gml.4 L21934 NM_003101 "CCDS58047|CCDS1330|CCDS58048" P35610 8407899 MGI:104665 RGD:621641 102642 2.3.1.26 HGNC:11177 "ENST00000367619.8|NM_003101.6" +HGNC:11178 SOAT2 sterol O-acyltransferase 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 ACAT2 acyl-Coenzyme A: cholesterol acyltransferase 2 1998-10-29 2021-08-19 8435 ENSG00000167780 OTTHUMG00000169774 uc001sbv.4 AF059203 NM_003578 CCDS8847 O75908 "9756920|33412572" MGI:1332226 RGD:628865 601311 2.3.1.26 HGNC:11178 "ENST00000301466.8|NM_003578.4" +HGNC:29256 SOBP sine oculis binding protein homolog protein-coding gene gene with protein product Approved 6q21 06q21 FLJ10159 sine oculis binding protein homolog (Drosophila) 2007-03-15 2015-07-02 2015-07-02 55084 ENSG00000112320 OTTHUMG00000015312 uc003prx.4 AK001021 NM_018013 CCDS43488 A7XYQ1 MGI:1924427 RGD:1560479 613667 471128 HGNC:29256 "ENST00000317357.10|NM_018013.4" HGNC:29256 +HGNC:54421 SOCAR serous ovarian cancer associated RNA non-coding RNA RNA, long non-coding Approved 2q13 02q13 Long non-coding RNAs with non-systematic symbols 1992 2019-07-17 2019-07-17 105373557 ENSG00000240350 XR_001739635 31299360 HGNC:54421 +HGNC:19383 SOCS1 suppressor of cytokine signaling 1 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "SOCS-1|SSI-1|JAB|TIP3|Cish1" "SH2 domain containing|Suppressors of cytokine signaling" "741|764" 2002-11-13 2015-08-26 8651 ENSG00000185338 OTTHUMG00000129792 uc002dar.2 U88326 NM_003745 CCDS10546 O15524 "7796808|9266833" MGI:1354910 RGD:69272 SOCS1 603597 HGNC:19383 "ENST00000332029.4|NM_003745.2" HGNC:19383 +HGNC:19382 SOCS2 suppressor of cytokine signaling 2 protein-coding gene gene with protein product Approved 12q 12q "STATI2|SSI2|SOCS-2|SSI-2|CIS2|Cish2" STAT-induced STAT inhibitor-2 "SH2 domain containing|Suppressors of cytokine signaling" "741|764" 2002-11-13 2015-09-02 8835 ENSG00000120833 OTTHUMG00000170160 uc001tcw.3 AF037989 NM_001270467 CCDS9047 O14508 "9344848|9266833" MGI:1201787 RGD:69273 605117 HGNC:19382 "ENST00000551556.2|NM_001270471.2" +HGNC:27054 SOCS2-AS1 SOCS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q22 12q22 SOCS2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2013-10-31 144481 ENSG00000246985 OTTHUMG00000170159 uc001tcu.3 NR_038263 24168098 617269 SOCS2-AS1 HGNC:27054 +HGNC:16069 SOCS2P1 suppressor of cytokine signaling 2 pseudogene 1 pseudogene pseudogene Approved 20q11.21 20q11.21 2002-11-13 2016-10-05 276719 ENSG00000237662 OTTHUMG00000032246 NG_002411 HGNC:16069 +HGNC:19330 SOCS2P2 suppressor of cytokine signaling 2 pseudogene 2 pseudogene pseudogene Approved 22q11.22 22q11.22 2002-10-03 2016-10-05 266701 ENSG00000224465 OTTHUMG00000150854 NG_000002 PGOHUM00000246268 HGNC:19330 +HGNC:19391 SOCS3 suppressor of cytokine signaling 3 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "SSI-3|CIS3|SOCS-3|Cish3" "SH2 domain containing|Suppressors of cytokine signaling" "741|764" 2002-11-13 2021-04-13 9021 ENSG00000184557 OTTHUMG00000177513 uc002jvl.4 AB004904 NM_001378932 CCDS11756 O14543 "9266833|9344848" MGI:1201791 RGD:621087 LRG_619|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_619.xml 604176 HGNC:19391 "ENST00000330871.3|NM_003955.5" +HGNC:52799 SOCS3-DT SOCS3 divergent transcript non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 Divergent transcripts 1990 2020-10-19 2020-10-19 101928674 ENSG00000266970 OTTHUMG00000177663 NR_110845 +HGNC:19392 SOCS4 suppressor of cytokine signaling 4 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 SOCS7 suppressor of cytokine signaling 7 "SH2 domain containing|Suppressors of cytokine signaling" "741|764" 2002-11-11 2004-02-27 2004-02-25 2016-10-05 122809 ENSG00000180008 OTTHUMG00000140311 uc001xbp.4 AF424815 NM_080867 CCDS9722 Q8WXH5 "12076535|10500304" MGI:1914546 RGD:1306503 616337 HGNC:19392 "ENST00000555846.2|NM_199421.2" HGNC:19392 +HGNC:16852 SOCS5 suppressor of cytokine signaling 5 protein-coding gene gene with protein product Approved 2p21 02p21 "KIAA0671|SOCS-5|CIS6|CISH6|Cish5" "SH2 domain containing|Suppressors of cytokine signaling" "741|764" 2002-11-13 2014-11-19 9655 ENSG00000171150 OTTHUMG00000128852 uc002rvf.4 AB014571 NM_014011 CCDS1830 O75159 "9734811|11230166" MGI:2385459 RGD:1564914 607094 HGNC:16852 "ENST00000394861.3|NM_144949.3" +HGNC:44597 SOCS5P1 suppressor of cytokine signaling 5 pseudogene 1 pseudogene pseudogene Approved 7q21.11 07q21.11 2012-11-19 2012-11-19 100420754 ENSG00000236610 OTTHUMG00000154618 NG_026489 PGOHUM00000232908 HGNC:44597 +HGNC:44598 SOCS5P2 suppressor of cytokine signaling 5 pseudogene 2 pseudogene pseudogene Approved 9q34.3 09q34.3 2012-11-19 2012-11-19 100128299 ENSG00000224682 OTTHUMG00000020907 NG_021679 PGOHUM00000236788 HGNC:44598 +HGNC:44599 SOCS5P3 suppressor of cytokine signaling 5 pseudogene 3 pseudogene pseudogene Approved 3p21.31 03p21.31 2012-11-19 2012-11-19 100127945 ENSG00000235805 OTTHUMG00000156450 NG_022203 PGOHUM00000237608 HGNC:44599 +HGNC:44600 SOCS5P4 suppressor of cytokine signaling 5 pseudogene 4 pseudogene pseudogene Approved Xq13.1 Xq13.1 2012-11-19 2012-11-19 100132415 ENSG00000227536 OTTHUMG00000021784 NG_028788 PGOHUM00000241378 HGNC:44600 +HGNC:44601 SOCS5P5 suppressor of cytokine signaling 5 pseudogene 5 pseudogene pseudogene Approved 6q21 06q21 2012-11-19 2012-11-19 643884 ENSG00000216904 OTTHUMG00000015396 NG_022369 PGOHUM00000243746 HGNC:44601 +HGNC:16833 SOCS6 suppressor of cytokine signaling 6 protein-coding gene gene with protein product Approved 18q22.2 18q22.2 "CIS4|SSI4|HSPC060|STATI4|STAI4|Cish4" SOCS4 suppressor of cytokine signaling 4 "SH2 domain containing|Suppressors of cytokine signaling" "741|764" 2002-11-13 2004-02-27 2004-02-25 2016-10-05 9306 ENSG00000170677 OTTHUMG00000132816 uc002lkr.2 AB006968 NM_004232 CCDS11998 O14544 "9344848|11042152" MGI:1924885 RGD:1304632 605118 HGNC:16833 "ENST00000397942.4|NM_004232.4" +HGNC:54990 SOCS6P1 SOCS6 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-15 2020-05-15 100420759 ENSG00000215120 NG_026718 +HGNC:29846 SOCS7 suppressor of cytokine signaling 7 protein-coding gene gene with protein product Approved 17q12 17q12 "NAP4|NCKAP4" "Nck, Ash and phospholipase C binding protein|NCK-associated protein 4" "SH2 domain containing|Suppressors of cytokine signaling" "741|764" 2004-02-25 2018-11-19 30837 ENSG00000274211 OTTHUMG00000188546 uc002hqa.4 AB005216 NM_014598 CCDS32637 O14512 "9344857|12076535" MGI:2651588 RGD:1307720 608788 HGNC:29846 "ENST00000612932.6|NM_014598.4" +HGNC:11179 SOD1 superoxide dismutase 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 IPOA "ALS|ALS1" "amyotrophic lateral sclerosis 1 (adult)|superoxide dismutase 1, soluble" Superoxide dismutases 1929 1986-01-01 2017-01-11 2021-05-26 6647 ENSG00000142168 OTTHUMG00000084878 uc002ypa.4 "AY049787|X02317" NM_000454 CCDS33536 P00441 8446170 MGI:98351 RGD:3731 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_652|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_652.xml" 147450 119776 1.15.1.1 HGNC:11179 "ENST00000270142.11|NM_000454.5" HGNC:11179 +HGNC:55683 SOD1-DT SOD1 divergent transcript non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 Divergent transcripts 1990 2021-07-01 2021-07-01 102724449 ENSG00000234509 XR_007089915 +HGNC:45134 SOD1P1 superoxide dismutase 1 pseudogene 1 pseudogene pseudogene Approved 6p12.1 06p12.1 superoxide dismutase 1, soluble pseudogene 1 2013-02-22 2017-01-11 2017-01-11 106479055 ENSG00000219074 OTTHUMG00000014872 NG_044539 PGOHUM00000243200 HGNC:45134 +HGNC:45135 SOD1P2 superoxide dismutase 1 pseudogene 2 pseudogene pseudogene Approved 16q12.1 16q12.1 superoxide dismutase 1, soluble pseudogene 2 2013-02-22 2017-01-11 2017-01-11 100652974 ENSG00000261282 OTTHUMG00000173288 NG_032733 PGOHUM00000249130 HGNC:45135 +HGNC:45136 SOD1P3 superoxide dismutase 1 pseudogene 3 pseudogene pseudogene Approved 8q24.13 08q24.13 superoxide dismutase 1, soluble pseudogene 3 2013-02-22 2017-01-11 2017-01-11 101060005 ENSG00000253651 OTTHUMG00000165026 PGOHUM00000249501 +HGNC:11180 SOD2 superoxide dismutase 2 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "GClnc1|MnSOD|IPOB" "gastric cancer–associated lncRNA 1|manganese superoxide dismutase" superoxide dismutase 2, mitochondrial Superoxide dismutases 1929 1986-01-01 2017-01-11 2021-12-08 6648 ENSG00000112096 OTTHUMG00000015940 uc003qsf.6 M36693 NM_000636 "CCDS5265|CCDS83143|CCDS83142|CCDS83141|CCDS34564" P04179 19265433 MGI:98352 RGD:3732 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 147460 471130 1.15.1.1 HGNC:11180 "ENST00000538183.7|NM_000636.4" HGNC:11180 +HGNC:53445 SOD2-OT1 SOD2 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 Overlapping transcripts 1988 2017-04-19 2018-08-03 100129518 ENSG00000285427 NR_037166 HGNC:53445 +HGNC:45268 SOD2P1 superoxide dismutase 2 pseudogene 1 pseudogene pseudogene Approved 1p21.1 01p21.1 superoxide dismutase 2, mitochondrial pseudogene 1 2013-03-15 2017-01-11 2017-01-11 100421046 ENSG00000234257 OTTHUMG00000010923 NG_008033 PGOHUM00000244124 HGNC:45268 +HGNC:11181 SOD3 superoxide dismutase 3 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 EC-SOD Extracellular superoxide dismutase [Cu-Zn] superoxide dismutase 3, extracellular Superoxide dismutases 1929 1988-05-08 2017-01-11 2021-12-08 6649 ENSG00000109610 OTTHUMG00000128565 uc003gqz.4 NM_003102 CCDS3430 P08294 12126755 MGI:103181 RGD:3733 185490 1.15.1.1 HGNC:11181 "ENST00000382120.4|NM_003102.4" +HGNC:16111 SOGA1 suppressor of glucose, autophagy associated 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "dJ132F21.1|FLJ44670|SOGA" "suppressor of glucose by autophagy|suppressor of glucose from autophagy" "C20orf117|KIAA0889" "chromosome 20 open reading frame 117|KIAA0889" 2001-07-17 2012-02-27 2012-02-27 2017-12-04 140710 ENSG00000149639 OTTHUMG00000032395 uc002xgd.2 AK126630 NM_199181 "CCDS46598|CCDS54459" O94964 20813965 MGI:2444575 RGD:1563627 HGNC:16111 "ENST00000237536.9|NM_080627.4" +HGNC:21494 SOGA3 SOGA family member 3 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 dJ403A15.3 C6orf174 chromosome 6 open reading frame 174 2003-11-26 2012-02-27 2012-02-27 2015-08-03 387104 ENSG00000214338 OTTHUMG00000166438 uc063rfs.1 AK096490 NM_001012279 CCDS43505 Q5TF21 MGI:1914662 RGD:11479453 HGNC:21494 +HGNC:27845 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NOHLH|TEB2|bA100C15.3|bHLHe80|SPATA27" spermatogenesis associated 27 C9orf157 chromosome 9 open reading frame 157 Basic helix-loop-helix proteins 420 2004-05-27 2006-03-16 2006-03-16 2019-03-19 402381 ENSG00000165643 OTTHUMG00000020915 uc004cgl.4 BC031861 NM_001012415 "CCDS35174|CCDS48054" Q5JUK2 "20506135|22056784" MGI:2684956 RGD:1564440 610224 304764 HGNC:27845 "ENST00000425225.2|NM_001101677.2" HGNC:27845 +HGNC:26026 SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "FLJ20449|TEB1|bHLHe81|SPATA28" spermatogenesis associated 28 Basic helix-loop-helix proteins 420 2006-03-16 2019-03-19 54937 ENSG00000120669 OTTHUMG00000016728 uc001uvj.3 AK000456 NM_017826 "CCDS61309|CCDS9355" Q9NX45 "22056784|26153894" MGI:1921684 RGD:1589577 616066 471132 HGNC:26026 "ENST00000379881.8|NM_017826.3" +HGNC:11183 SON SON DNA and RNA binding protein protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "DBP-5|NREBP|KIAA1019|BASS1|FLJ21099|FLJ33914" "NRE-binding protein|negative regulatory element-binding protein|Bax antagonist selected in Saccharomyces 1" C21orf50 SON DNA binding protein "G-patch domain containing|Minor histocompatibility antigens|MicroRNA protein coding host genes" "579|870|1691" 1994-08-05 2020-01-28 2020-10-01 6651 ENSG00000159140 OTTHUMG00000065806 uc061zrh.1 AF380181 NM_138927 "CCDS13631|CCDS13629|CCDS74784|CCDS77624" P18583 "8318737|21551269" MGI:98353 RGD:1309013 182465 471134 HGNC:11183 "ENST00000356577.10|NM_138927.4" HGNC:11183 +HGNC:30608 SONP1 SON pseudogene 1 pseudogene pseudogene Approved 1q23.1 01q23.1 2006-09-21 2006-09-21 148300 X63754 NG_001549 8503959 HGNC:30608 +HGNC:14565 SORBS1 sorbin and SH3 domain containing 1 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "FLJ12406|CAP|sh3p12|ponsin|KIAA1296" c-Cbl-associated protein SH3D5 SH3-domain protein 5 (ponsin) 2001-03-05 2002-05-08 2016-10-05 10580 ENSG00000095637 OTTHUMG00000018812 uc001kkv.4 AF136381 NM_001034954 "CCDS76327|CCDS31254|CCDS7442|CCDS31252|CCDS76326|CCDS31256|CCDS31253|CCDS73169|CCDS31255" Q9BX66 "10085297|11001060" MGI:700014 RGD:1586598 605264 HGNC:14565 "ENST00000371247.7|NM_001034954.3" +HGNC:24098 SORBS2 sorbin and SH3 domain containing 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "ARGBP2|KIAA0777" Arg/Abl interacting protein 2005-09-28 2014-11-19 8470 ENSG00000154556 OTTHUMG00000157215 uc003iyi.5 NM_003603 "CCDS59482|CCDS47174|CCDS43289|CCDS47175|CCDS47176|CCDS47173|CCDS54825|CCDS3845" O94875 "9211900|9872452" MGI:1924574 RGD:620061 616349 HGNC:24098 +HGNC:41039 SORBS2-AS1 SORBS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 "AC093797.1|RP11-301L8.2" Antisense RNAs 1987 2022-01-05 2022-01-05 ENSG00000233110 OTTHUMG00000157217 34925460 +HGNC:30907 SORBS3 sorbin and SH3 domain containing 3 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "SCAM-1|SH3D4|vinexin" 2005-09-28 2014-11-19 10174 ENSG00000120896 OTTHUMG00000131728 uc003xbv.4 NM_005775 "CCDS6031|CCDS47824" O60504 "9885244|12510380" MGI:700013 RGD:628900 610795 HGNC:30907 "ENST00000240123.12|NM_005775.5" +HGNC:16697 SORCS1 sortilin related VPS10 domain containing receptor 1 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 sortilin-related VPS10 domain containing receptor 1 2004-04-20 2016-02-01 2020-05-04 114815 ENSG00000108018 OTTHUMG00000019018 uc001kym.4 AF284756 NM_052918 CCDS7559 Q8WY21 11499680 MGI:1929666 RGD:1305910 606283 HGNC:16697 "ENST00000263054.11|NM_052918.5" HGNC:16697 +HGNC:16698 SORCS2 sortilin related VPS10 domain containing receptor 2 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 KIAA1329 sortilin-related VPS10 domain containing receptor 2 MicroRNA protein coding host genes 1691 2004-04-20 2016-02-01 2016-02-01 57537 ENSG00000184985 OTTHUMG00000159981 uc003gkb.5 AB037750 NM_020777 CCDS47008 Q96PQ0 11499680 MGI:1932289 RGD:1310621 606284 HGNC:16698 "ENST00000507866.6|NM_020777.3" +HGNC:16699 SORCS3 sortilin related VPS10 domain containing receptor 3 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 "KIAA1059|SORCS" sortilin-related VPS10 domain containing receptor 3 2004-04-20 2016-02-01 2016-10-05 22986 ENSG00000156395 OTTHUMG00000019011 uc001kyi.1 AB028982 NM_014978 CCDS7558 Q9UPU3 11499680 MGI:1913923 RGD:1310974 606285 HGNC:16699 "ENST00000369701.8|NM_014978.3" HGNC:16699 +HGNC:45244 SORCS3-AS1 SORCS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q25.1 10q25.1 Antisense RNAs 1987 2013-03-11 2013-03-11 100505890 ENSG00000226387 OTTHUMG00000019010 uc001kyj.5 BC042079 NR_104028 SORCS3-AS1 HGNC:45244 +HGNC:11184 SORD sorbitol dehydrogenase protein-coding gene gene with protein product Approved 15q21.1 15q21.1 2001-06-22 2016-10-05 6652 ENSG00000140263 OTTHUMG00000131265 uc001zul.5 NM_003104 CCDS10116 Q00796 7782086 MGI:98266 RGD:3734 182500 1.1.1.14 HGNC:11184 "ENST00000267814.14|NM_003104.6" HGNC:11184 +HGNC:49919 SORD2P sorbitol dehydrogenase 2, pseudogene pseudogene pseudogene Approved 15q21.1 15q21.1 2014-03-21 2014-03-21 653381 ENSG00000259479 OTTHUMG00000171966 NR_146393 9880675 PGOHUM00000246773 HGNC:49919 +HGNC:11185 SORL1 sortilin related receptor 1 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 "gp250|LR11|LRP9|SorLA|SorLA-1" LDLR relative with 11 ligand-binding repeats C11orf32 "chromosome 11 open reading frame 32|sortilin-related receptor, L(DLR class) A repeats-containing" Fibronectin type III domain containing 555 1996-12-27 2016-06-21 2016-10-05 6653 ENSG00000137642 OTTHUMG00000166057 uc001pxx.4 Y08110 NM_003105 CCDS8436 Q92673 "9157966|8940146" MGI:1202296 RGD:619914 602005 306073 HGNC:11185 "ENST00000260197.12|NM_003105.6" HGNC:11185 +HGNC:55594 SORL1-AS1 SORL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.1 11q24.1 Antisense RNAs 1987 2021-04-28 2021-04-28 105369536 ENSG00000246790 XR_001748420 +HGNC:11186 SORT1 sortilin 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "Gp95|NT3" 1996-05-14 2015-08-26 6272 ENSG00000134243 OTTHUMG00000011999 uc001dxm.3 BC023542 NM_002959 "CCDS798|CCDS55618" Q99523 MGI:1338015 RGD:619999 602458 HGNC:11186 "ENST00000256637.8|NM_002959.7" +HGNC:11187 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "HGF|GF1" GINGF "gingival fibromatosis, hereditary, 1|son of sevenless homolog 1 (Drosophila)" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1993-10-27 2015-11-10 2021-11-29 6654 ENSG00000115904 OTTHUMG00000102109 uc061ikm.1 L13857 NM_005633 CCDS1802 Q07889 "8276400|10995566" MGI:98354 RGD:1310949 LRG_754|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_754.xml 182530 119781 objectId:3096 HGNC:11187 "ENST00000402219.8|NM_005633.4" HGNC:11187 +HGNC:41385 SOS1-IT1 SOS1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p22.1 02p22.1 SOS1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-20 2015-02-25 2015-02-25 100505911 ENSG00000229692 OTTHUMG00000153569 uc061ikr.1 SOS1-IT1 +HGNC:11188 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 14q21.3 14q21.3 "son of sevenless (Drosophilia) homolog 2|son of sevenless homolog 2 (Drosophila)" "Pleckstrin homology domain containing|Dbl family Rho GEFs" "682|722" 1993-10-27 2015-11-10 2021-11-29 6655 ENSG00000100485 OTTHUMG00000140292 uc001wxs.5 L13858 NM_006939 CCDS9697 Q07890 8276400 MGI:98355 RGD:620435 601247 434401 HGNC:11188 "ENST00000216373.10|NM_006939.4" HGNC:11188 +HGNC:13771 SOST sclerostin protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "VBCH|DAND6" sclerosteosis DAN family 1246 2002-02-20 2010-04-28 2021-05-26 50964 ENSG00000167941 OTTHUMG00000180888 uc002iec.1 AF326736 NM_025237 CCDS11468 Q9BQB4 "11179006|11181578" MGI:1921749 RGD:69358 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SOST|LRG_852|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_852.xml" 605740 123431 ligandId:3704 HGNC:13771 "ENST00000301691.3|NM_025237.3" HGNC:13771 +HGNC:21748 SOSTDC1 sclerostin domain containing 1 protein-coding gene gene with protein product Approved 7p21.2 07p21.2 "DKFZp564D206|USAG1|DAND7" "ectodin|wise" DAN family 1246 2003-07-22 2016-10-19 25928 ENSG00000171243 OTTHUMG00000090807 uc003stg.4 AB059270 NM_015464 CCDS5360 Q6X4U4 MGI:1913292 RGD:628877 609675 HGNC:21748 "ENST00000307068.5|NM_015464.3" +HGNC:27033 SOWAHA sosondowah ankyrin repeat domain family member A protein-coding gene gene with protein product Approved 5q31.1 05q31.1 ANKRD43 ankyrin repeat domain 43 Ankyrin repeat domain containing 403 2005-05-29 2012-01-12 2012-01-12 2016-10-05 134548 ENSG00000198944 OTTHUMG00000059844 uc003kxw.4 AK090823 NM_175873 CCDS43361 Q2M3V2 22234889 MGI:2687280 RGD:1564616 HGNC:27033 "ENST00000378693.4|NM_175873.6" +HGNC:32958 SOWAHB sosondowah ankyrin repeat domain family member B protein-coding gene gene with protein product Approved 4q21.1 04q21.1 ANKRD56 ankyrin repeat domain 56 Ankyrin repeat domain containing 403 2006-07-12 2012-01-12 2012-01-12 2014-11-19 345079 ENSG00000186212 OTTHUMG00000160876 uc003hki.4 NM_001029870 CCDS34017 A6NEL2 22234889 MGI:1925338 RGD:1311994 HGNC:32958 "ENST00000334306.4|NM_001029870.3" +HGNC:26149 SOWAHC sosondowah ankyrin repeat domain family member C protein-coding gene gene with protein product Approved 2q13 02q13 FLJ21870 "C2orf26|ANKRD57" ankyrin repeat domain 57 Ankyrin repeat domain containing 403 2004-05-10 2012-01-12 2012-01-12 2014-11-19 65124 ENSG00000198142 OTTHUMG00000153219 uc002tfb.4 AK023346 NM_023016 CCDS33270 Q53LP3 22234889 MGI:3606051 RGD:1595666 HGNC:26149 "ENST00000356454.5|NM_023016.4" +HGNC:37984 SOWAHCP1 SOWAHC pseudogene 1 pseudogene pseudogene Approved Yq11.1 Yq11.1 ANKRD57P1 ankyrin repeat domain 57 pseudogene 1 2010-03-16 2019-08-29 2019-08-29 2019-08-29 100131984 NG_022994 PGOHUM00000233738 HGNC:37984 +HGNC:54506 SOWAHCP2 SOWAHC pseudogene 2 pseudogene pseudogene Approved 21p11.2 21p11.2 2019-08-29 2019-08-29 100419957 ENSG00000279720 OTTHUMG00000189480 NG_025019 PGOHUM00000297193 HGNC:54506 +HGNC:54507 SOWAHCP3 SOWAHC pseudogene 3 pseudogene pseudogene Approved 20q11.21 20q11.21 2019-08-29 2019-08-29 102723660 PGOHUM00000297100 HGNC:54507 +HGNC:54508 SOWAHCP4 SOWAHC pseudogene 4 pseudogene pseudogene Approved 9q13 09q13 2019-08-29 2019-08-29 100129224 PGOHUM00000303880 HGNC:54508 +HGNC:54509 SOWAHCP5 SOWAHC pseudogene 5 pseudogene pseudogene Approved 2q11.1 02q11.1 2019-08-29 2019-08-29 100419815 ENSG00000278631 OTTHUMG00000187611 NG_023707 PGOHUM00000298553 HGNC:54509 +HGNC:32960 SOWAHD sosondowah ankyrin repeat domain family member D protein-coding gene gene with protein product Approved Xq24 Xq24 ANKRD58 ankyrin repeat domain 58 Ankyrin repeat domain containing 403 2006-07-12 2012-01-12 2012-01-12 2014-11-19 347454 ENSG00000187808 OTTHUMG00000159606 uc010nql.4 NM_001105576 CCDS43984 A6NJG2 22234889 MGI:3045274 RGD:1563086 HGNC:32960 "ENST00000343905.5|NM_001105576.3" +HGNC:11189 SOX1 SRY-box transcription factor 1 protein-coding gene gene with protein product Approved 13q34 13q34 SRY-related HMG-box gene 1 "SRY (sex determining region Y)-box 1|SRY-box 1" SRY-box transcription factors 757 1993-11-30 2019-06-13 2019-06-14 6656 ENSG00000182968 OTTHUMG00000017362 uc001vsb.2 NM_005986 CCDS9523 O00570 9337405 MGI:98357 RGD:6487636 602148 HGNC:11189 "ENST00000330949.3|NM_005986.3" +HGNC:42733 SOX1-OT SOX1 overlapping transcript non-coding RNA RNA, long non-coding Approved 13q34 13q34 LINC00403 long intergenic non-protein coding RNA 403 Overlapping transcripts 1988 2011-08-16 2017-07-06 2017-07-06 2017-07-06 100505996 ENSG00000224243 OTTHUMG00000017363 uc058yix.1 NR_120392 28674729 MGI:3645522 LINC00403 HGNC:42733 +HGNC:11195 SOX2 SRY-box transcription factor 2 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "SRY (sex determining region Y)-box 2|SRY-box 2" SRY-box transcription factors 757 1993-11-30 2019-06-13 2021-05-26 6657 ENSG00000181449 OTTHUMG00000158222 uc003fkx.4 BC013923 NM_003106 CCDS3239 P48431 7849401 MGI:98364 RGD:1565646 "LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=SOX2|LRG_719|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_719.xml" SOX2 184429 119790 HGNC:11195 "ENST00000325404.3|NM_003106.4" HGNC:11195 +HGNC:20209 SOX2-OT SOX2 overlapping transcript non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 "DKFZp761J1324|NCRNA00043" non-protein coding RNA 43 SOX2OT SOX2 overlapping transcript (non-protein coding) Overlapping transcripts 1988 2003-07-01 2011-08-19 2014-06-02 2018-08-09 347689 ENSG00000242808 OTTHUMG00000158186 uc062qin.1 "AL157425|AK022826" NR_004053 "12612584|19767420|28960757" MGI:2444112 616338 sox2ot SOX2-OT HGNC:20209 +HGNC:11199 SOX3 SRY-box transcription factor 3 protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 PHP "panhypopituitarism|SRY (sex determining region Y)-box 3|SRY-box 3" SRY-box transcription factors 757 1993-11-30 2019-06-13 2021-05-26 6658 ENSG00000134595 OTTHUMG00000022544 uc004fbd.2 NM_005634 CCDS14669 P41225 15800844 MGI:98365 RGD:1591839 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SOX3 313430 138386 HGNC:11199 "ENST00000370536.5|NM_005634.3" HGNC:11199 +HGNC:11200 SOX4 SRY-box transcription factor 4 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 "SRY (sex determining region Y)-box 4|SRY-box 4" SRY-box transcription factors 757 1993-11-30 2019-06-13 2021-05-26 6659 ENSG00000124766 OTTHUMG00000016101 uc003ndi.4 AF070669 NM_003107 CCDS4547 Q06945 "8268656|9730625" MGI:98366 RGD:1309488 184430 HGNC:11200 "ENST00000244745.4|NM_003107.3" HGNC:11200 +HGNC:11201 SOX5 SRY-box transcription factor 5 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "L-SOX5|MGC35153" "SRY (sex determining region Y)-box 5|SRY-box 5" SRY-box transcription factors 757 1997-07-07 2019-06-13 2021-05-26 6660 ENSG00000134532 OTTHUMG00000169026 uc058lyf.1 AB081589 NM_006940 "CCDS8699|CCDS41761|CCDS81672|CCDS44844|CCDS58217|CCDS58216" P35711 8812465 MGI:98367 RGD:620471 604975 317704 HGNC:11201 "ENST00000451604.7|NM_006940.6" HGNC:11201 +HGNC:53311 SOX5-AS1 SOX5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12p12.1 12p12.1 Antisense RNAs 1987 2017-03-22 2019-06-14 101928471 ENSG00000256120 OTTHUMG00000169058 NR_120472 HGNC:53311 +HGNC:11202 SOX5P1 SOX5 pseudogene 1 pseudogene pseudogene Approved 8q21.3 08q21.3 SOX29 SOX5P "SRY (sex determining region Y)-box 5 pseudogene|SRY-box 5 pseudogene 1" 1997-07-07 2015-11-06 2019-06-13 2019-06-13 6661 ENSG00000254376 OTTHUMG00000163766 AF032454 NG_002726 "8812465|12194848" PGOHUM00000303297 HGNC:11202 +HGNC:16421 SOX6 SRY-box transcription factor 6 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "SRY (sex determining region Y)-box 6|SRY-box 6" "SRY-box transcription factors|MicroRNA protein coding host genes" "757|1691" 2002-02-15 2019-06-13 2021-05-26 55553 ENSG00000110693 OTTHUMG00000165876 uc001mmg.3 AF309034 NM_033326 "CCDS53604|CCDS7821" P35712 11255018 MGI:98368 RGD:1309000 607257 HGNC:16421 "ENST00000683767.1|NM_001367873.1" HGNC:16421 +HGNC:18196 SOX7 SRY-box transcription factor 7 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "SRY (sex determining region Y)-box 7|SRY-box 7" SRY-box transcription factors 757 2002-02-15 2019-06-13 2019-06-14 83595 ENSG00000171056 OTTHUMG00000090585 uc003wtf.5 AJ409320 NM_031439 CCDS5977 Q9BT81 11691915 MGI:98369 RGD:1310038 612202 471136 HGNC:18196 "ENST00000304501.2|NM_031439.4" +HGNC:11203 SOX8 SRY-box transcription factor 8 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SRY (sex determining region Y)-box 8|SRY-box 8" SRY-box transcription factors 757 2000-03-14 2019-06-13 2019-06-14 30812 ENSG00000005513 OTTHUMG00000122101 uc002ckn.3 AF164104 NM_014587 CCDS10428 P57073 "10662550|10684944" MGI:98370 RGD:1309072 605923 HGNC:11203 "ENST00000293894.4|NM_014587.5" +HGNC:11204 SOX9 SRY-box transcription factor 9 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 SRA1 "CMD1|CMPD1" "campomelic dysplasia, autosomal sex-reversal|SRY (sex determining region Y)-box 9|SRY-box 9" SRY-box transcription factors 757 1992-09-25 2019-06-13 2021-05-26 6662 ENSG00000125398 OTTHUMG00000166300 uc002jiw.4 S74506 NM_000346 CCDS11689 P48436 8348155 MGI:98371 RGD:620474 608160 119792 HGNC:11204 "ENST00000245479.3|NM_000346.4" HGNC:11204 +HGNC:49321 SOX9-AS1 SOX9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q24.3 17q24.3 FLJ37644 Antisense RNAs 1987 2013-10-17 2019-08-14 400618 ENSG00000234899 OTTHUMG00000132234 NR_103738 "29084806|31402556" SOX9-AS1 HGNC:49321 +HGNC:11190 SOX10 SRY-box transcription factor 10 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "DOM|WS4|WS2E|SOX-10" dominant megacolon, mouse, human homolog of "SRY (sex determining region Y)-box 10|SRY-box 10" SRY-box transcription factors 757 1998-01-22 2019-06-13 2021-10-18 6663 ENSG00000100146 OTTHUMG00000149913 uc003auo.2 NM_006941 CCDS13964 P56693 "9462749|10441344|12944398" MGI:98358 RGD:3735 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SOX10|LRG_271|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_271.xml" 602229 119786 HGNC:11190 "ENST00000396884.8|NM_006941.4" HGNC:11190 +HGNC:11191 SOX11 SRY-box transcription factor 11 protein-coding gene gene with protein product Approved 2p25.2 02p25.2 SRY-related HMG-box gene 11 "SRY (sex determining region Y)-box 11|SRY-box 11" SRY-box transcription factors 757 1995-06-08 2019-06-13 2021-05-26 6664 ENSG00000176887 OTTHUMG00000090333 uc002qyj.3 NM_003108 CCDS1654 P35716 "8666406|12637543" MGI:98359 RGD:69351 600898 406000 HGNC:11191 "ENST00000322002.5|NM_003108.4" HGNC:11191 +HGNC:11198 SOX12 SRY-box transcription factor 12 protein-coding gene gene with protein product Approved 20p13 20p13 SOX22 "SRY (sex determining region Y)-box 22|SRY (sex determining region Y)-box 12|SRY-box 12" SRY-box transcription factors 757 1997-07-07 2002-07-26 2019-06-13 2019-06-14 6666 ENSG00000177732 OTTHUMG00000031623 uc002wdh.5 U35612 NM_006943 CCDS12995 O15370 9215677 MGI:98360 RGD:1586313 601947 HGNC:11198 "ENST00000342665.5|NM_006943.4" +HGNC:11192 SOX13 SRY-box transcription factor 13 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Sox-13|ICA12|MGC117216" "islet cell antibody 12|SRY-related HMG-box gene 13|type 1 diabetes autoantigen" "SRY (sex determining region Y)-box 13|SRY-box 13" SRY-box transcription factors 757 1998-12-11 2019-06-13 2019-06-14 9580 ENSG00000143842 OTTHUMG00000036050 uc001ham.4 NM_005686 CCDS44299 Q9UN79 10198172 MGI:98361 RGD:1309674 604748 HGNC:11192 "ENST00000367204.6|NM_005686.3" +HGNC:11193 SOX14 SRY-box transcription factor 14 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 SOX28 HMG box transcription factor SOX-14 "SRY (sex determining region Y)-box 14|SRY-box 14" SRY-box transcription factors 757 1998-09-17 2019-06-13 2019-06-14 8403 ENSG00000168875 OTTHUMG00000159757 uc003erm.3 AJ006230 NM_004189 CCDS3094 O95416 9925951 MGI:98362 RGD:1309654 604747 HGNC:11193 "ENST00000306087.3|NM_004189.4" +HGNC:11196 SOX15 SRY-box transcription factor 15 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "SOX27|SOX26" SOX20 "SRY (sex determining region Y)-box 20|SRY (sex determining region Y)-box 15|SRY-box 15" SRY-box transcription factors 757 1995-09-15 2002-07-26 2019-06-13 2019-06-14 6665 ENSG00000129194 OTTHUMG00000178146 uc002ghz.2 AJ006222 NM_006942 CCDS32549 O60248 "8978787|9730625" MGI:98363 RGD:1312022 601297 HGNC:11196 "ENST00000250055.3|NM_006942.2" +HGNC:18122 SOX17 SRY-box transcription factor 17 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "SRY (sex determining region Y)-box 17|SRY-box 17" SRY-box transcription factors 757 2002-02-15 2019-06-13 2021-05-26 64321 ENSG00000164736 OTTHUMG00000164377 uc003xsb.5 AB073988 NM_022454 CCDS6159 Q9H6I2 11786926 MGI:107543 RGD:1305371 610928 289375 HGNC:18122 "ENST00000297316.5|NM_022454.4" HGNC:18122 +HGNC:11194 SOX18 SRY-box transcription factor 18 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "SRY (sex determining region Y)-box 18|SRY-box 18" SRY-box transcription factors 757 2000-07-31 2019-06-13 2021-05-26 54345 ENSG00000203883 OTTHUMG00000033017 uc002yhs.4 AB033888 NM_018419 CCDS13552 P35713 10807548 MGI:103559 RGD:1311718 601618 119788 HGNC:11194 "ENST00000340356.9|NM_018419.3" HGNC:11194 +HGNC:11197 SOX21 SRY-box transcription factor 21 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 SOX25 "SRY (sex determining region Y)-box 21|SRY-box 21" SRY-box transcription factors 757 1999-12-14 2019-06-13 2019-06-14 11166 ENSG00000125285 OTTHUMG00000017209 uc001vma.4 AF107044 NM_007084 CCDS9473 Q9Y651 10441749 MGI:2654070 RGD:1304724 604974 HGNC:11197 "ENST00000376945.4|NM_007084.4" +HGNC:39807 SOX21-AS1 SOX21 antisense divergent transcript 1 non-coding RNA RNA, long non-coding Approved 13q32.1 13q32.1 "SOX21 antisense RNA 1 (non-protein coding)|SOX21 antisense RNA 1|SOX21 antisense RNA 1 (head to head)" 2011-03-29 2017-09-08 2018-08-09 100507533 ENSG00000227640 OTTHUMG00000017213 uc001vmb.3 NR_046514 "25959816|27933111|28873379" MGI:3782856 SOX21-AS1 HGNC:39807 +HGNC:30635 SOX30 SRY-box transcription factor 30 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "SRY (sex determining region Y)-box 30|SRY-box 30" SRY-box transcription factors 757 2004-07-28 2019-06-13 2019-06-14 11063 ENSG00000039600 OTTHUMG00000130247 uc003lxb.1 AB022083 NM_007017 "CCDS4339|CCDS4340|CCDS78080" O94993 "15019997|11678506" MGI:1341157 RGD:1586382 606698 HGNC:30635 "ENST00000265007.11|NM_178424.2" +HGNC:35122 SOX30P1 SOX30 pseudogene 1 pseudogene pseudogene Approved 5q33.3 05q33.3 "SRY (sex determining region Y)-box 30 pseudogene 1|SRY box 30 pseudogene 1|SRY-box 30 pseudogene 1" 2010-10-21 2019-06-13 2019-06-13 442142 NG_028192 PGOHUM00000235436 HGNC:35122 +HGNC:11205 SP1 Sp1 transcription factor protein-coding gene gene with protein product Approved 12q13.13 12q13.13 specificity protein 1 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 1991-06-04 2016-11-09 6667 ENSG00000185591 OTTHUMG00000170047 uc001scw.4 J03133 NM_001251825 "CCDS8857|CCDS44898" P08047 1662663 MGI:98372 RGD:3738 189906 HGNC:11205 "ENST00000327443.9|NM_138473.3" +HGNC:11207 SP2 Sp2 transcription factor protein-coding gene gene with protein product Approved 17q21.32 17q21.32 KIAA0048 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 1993-02-10 2016-10-05 6668 ENSG00000167182 OTTHUMG00000150196 uc002imk.3 NM_003110 CCDS11521 Q02086 "1341900|9730617" MGI:1926162 RGD:1592078 601801 HGNC:11207 "ENST00000376741.5|NM_003110.6" +HGNC:51341 SP2-AS1 SP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Antisense RNAs 1987 2014-10-10 2014-10-10 100506325 ENSG00000234494 OTTHUMG00000132519 "BC038442|BF673352|DA457977" NR_103856 SP2-AS1 HGNC:51341 +HGNC:55330 SP2-DT SP2 divergent transcript non-coding RNA RNA, long non-coding Approved 17q21.32 17q21.32 Divergent transcripts 1990 2020-10-21 2020-10-21 102724532 ENSG00000264920 NR_135480 +HGNC:11208 SP3 Sp3 transcription factor protein-coding gene gene with protein product Approved 2q31.1 02q31.1 SPR-2 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 1993-02-10 2016-10-05 6670 ENSG00000172845 OTTHUMG00000132333 uc002uig.3 M97191 NM_003111 "CCDS46452|CCDS2254" Q02447 "1341900|1454515" MGI:1277166 RGD:1583765 601804 HGNC:11208 "ENST00000310015.12|NM_003111.5" +HGNC:35430 SP3P Sp3 transcription factor pseudogene pseudogene pseudogene Approved 13q31.2 13q31.2 2008-12-19 2016-10-05 160824 ENSG00000225530 OTTHUMG00000017176 BC036697 NG_004748 15474306 PGOHUM00000248458 HGNC:35430 +HGNC:11209 SP4 Sp4 transcription factor protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "SPR-1|HF1B|MGC130008|MGC130009" "Zinc fingers C2H2-type|Sp transcription factors|MicroRNA protein coding host genes" "28|755|1691" 1993-09-28 2016-10-05 6671 ENSG00000105866 OTTHUMG00000094801 uc003sva.4 NM_003112 CCDS5373 Q02446 1454515 MGI:107595 RGD:3741 600540 HGNC:11209 "ENST00000222584.8|NM_003112.5" +HGNC:14529 SP5 Sp5 transcription factor protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 2004-06-09 2018-11-19 389058 ENSG00000204335 OTTHUMG00000154053 uc002uge.4 NM_001003845 CCDS33322 Q6BEB4 MGI:1927715 RGD:1308499 609391 HGNC:14529 "ENST00000375281.4|NM_001003845.3" +HGNC:14530 SP6 Sp6 transcription factor protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "KLF14|Epfn" epiprofin "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 2001-02-06 2014-11-19 80320 ENSG00000189120 OTTHUMG00000132067 uc002imh.2 NM_199262 CCDS11520 Q3SY56 "11087666|14551215" MGI:1932575 RGD:1306768 608613 HGNC:14530 "ENST00000536300.2|NM_001258248.2" +HGNC:17321 SP7 Sp7 transcription factor protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "osterix|OSX" "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 2002-09-23 2019-04-16 121340 ENSG00000170374 OTTHUMG00000170031 uc001scv.4 AF477981 NM_001173467 "CCDS73475|CCDS44897" Q8TDD2 11792318 MGI:2153568 RGD:631377 SP7 variant database|https://oi.gene.le.ac.uk/home.php?select_db=SP7 606633 236638 HGNC:17321 "ENST00000536324.4|NM_001173467.3" HGNC:17321 +HGNC:19196 SP8 Sp8 transcription factor protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 2002-09-23 2016-10-05 221833 ENSG00000164651 OTTHUMG00000094788 uc022aak.3 NM_182700 "CCDS43555|CCDS5372" Q8IXZ3 MGI:2443471 RGD:1307619 608306 471138 HGNC:19196 "ENST00000418710.3|NM_182700.6" +HGNC:30690 SP9 Sp9 transcription factor protein-coding gene gene with protein product Approved 2q31.1 02q31.1 ZNF990 zinc finger protein 990 Sp9 transcription factor homolog (mouse) "Zinc fingers C2H2-type|Sp transcription factors" "28|755" 2008-12-09 2012-12-07 2021-04-27 100131390 ENSG00000217236 OTTHUMG00000150371 uc010zem.2 NM_001145250 CCDS46453 P0CG40 MGI:3574660 RGD:1559457 HGNC:30690 "ENST00000394967.3|NM_001145250.2" +HGNC:11206 SP100 SP100 nuclear antigen protein-coding gene gene with protein product Approved 2q37.1 02q37.1 nuclear antigen Sp100 "PHD finger proteins|Bromodomain containing" "88|1232" 1994-11-25 2005-11-30 2015-09-02 6672 ENSG00000067066 OTTHUMG00000133203 uc002vqu.2 AF056322 NM_003113 "CCDS56173|CCDS2477|CCDS56170|CCDS56171|CCDS42832|CCDS56172" P23497 "2258622|8695863" MGI:109561 RGD:1359550 604585 objectId:2777 HGNC:11206 "ENST00000340126.9|NM_001080391.2" +HGNC:5401 SP110 SP110 nuclear body protein protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "IFI41|IFI75" interferon-induced protein 41, 30kD "PHD finger proteins|Minor histocompatibility antigens|Bromodomain containing" "88|870|1232" 1996-12-19 2001-12-20 2001-12-19 2021-05-26 3431 ENSG00000135899 OTTHUMG00000133204 uc002vqg.5 L22343 NM_080424 "CCDS2474|CCDS54435|CCDS2475|CCDS2476" Q9HB58 "7693701|10388521" MGI:1923364 RGD:1310173 "SP110base: Mutation registry for Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI)|http://structure.bmc.lu.se/idbase/SP110base/|LRG_109|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_109.xml" 604457 119797 objectId:2778 HGNC:5401 "ENST00000258381.11|NM_080424.4" HGNC:5401 +HGNC:17133 SP140 SP140 nuclear body protein protein-coding gene gene with protein product Approved 2q37.1 02q37.1 "LYSP100-B|LYSP100-A" "PHD finger proteins|Bromodomain containing" "88|1232" 2001-11-07 2015-09-02 11262 ENSG00000079263 OTTHUMG00000153670 uc002vql.4 U63420 NM_007237 "CCDS63149|CCDS33392|CCDS63151|CCDS42831|CCDS63150" Q13342 "8695863|8910577|12368356" MGI:3702467 RGD:1306355 608602 objectId:2779 HGNC:17133 "ENST00000392045.8|NM_007237.5" +HGNC:25105 SP140L SP140 nuclear body protein like protein-coding gene gene with protein product Approved 2q37.1 02q37.1 SP140 nuclear body protein-like "PHD finger proteins|Bromodomain containing" "88|1232" 2008-08-15 2015-11-19 2019-03-19 93349 ENSG00000185404 OTTHUMG00000153730 uc010fxm.2 BC004921 NM_138402 "CCDS46538|CCDS77537|CCDS77536" Q9H930 26347895 MGI:3702467 617747 objectId:2780 HGNC:25105 "ENST00000415673.7|NM_138402.6" +HGNC:11210 SPA17 sperm autoantigenic protein 17 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "SP17|CT22" cancer/testis antigen 22 2000-05-02 2015-08-26 53340 ENSG00000064199 OTTHUMG00000165927 uc058ird.1 AF334735 NM_017425 CCDS8450 Q15506 8688458 MGI:1333778 RGD:620154 608621 HGNC:11210 "ENST00000227135.7|NM_017425.4" +HGNC:23224 SPA17P1 sperm autoantigenic protein 17 pseudogene 1 pseudogene pseudogene Approved 10q22.2 10q22.2 Sp17-2 2003-10-20 2016-10-05 171424 ENSG00000236797 OTTHUMG00000018525 AF335424 NG_001328 12393185 PGOHUM00000238544 HGNC:23224 +HGNC:27244 SPAAR small regulatory polypeptide of amino acid response protein-coding gene gene with protein product Approved 9p13.3 09p13.3 SPAR small regulatory polypeptide of amino acids response LINC00961 long intergenic non-protein coding RNA 961 2013-06-07 2017-01-11 2017-01-11 2022-01-05 158376 ENSG00000235387 OTTHUMG00000019887 NM_001348107 A0A1B0GVQ0 "28024296|34946813" MGI:1918656 617627 HGNC:27244 "ENST00000443779.3|NM_001348107.3" +HGNC:14967 SPACA1 sperm acrosome associated 1 protein-coding gene gene with protein product Approved 6q15 06q15 SAMP32 2001-04-05 2015-08-26 81833 ENSG00000118434 OTTHUMG00000015183 uc003pmn.3 AF203447 NM_030960 CCDS5014 Q9HBV2 MGI:1914902 RGD:1560284 612739 HGNC:14967 "ENST00000237201.2|NM_030960.3" +HGNC:16260 SPACA3 sperm acrosome associated 3 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "ALLP17|SLLP1|LYC3|LYZL3|CT54" "cancer/testis antigen 54|sperm lyzozyme-like acrosomal protein 1" Lysozymes, c-type 1174 2001-07-20 2020-04-20 124912 ENSG00000141316 OTTHUMG00000132886 uc002hhs.2 "AF216311|AF099029" NM_173847 "CCDS82105|CCDS11275" Q8IXA5 12606493 MGI:1922872 RGD:1306684 612749 HGNC:16260 "ENST00000269053.8|NM_173847.5" +HGNC:16441 SPACA4 sperm acrosome associated 4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 SAMP14 LY6/PLAUR domain containing 1226 2001-08-28 2018-09-20 171169 ENSG00000177202 OTTHUMG00000183316 uc002pjo.3 NM_133498 CCDS12725 Q8TDM5 "12788941|30190407" MGI:1916613 RGD:1587464 609932 HGNC:16441 "ENST00000321762.3|NM_133498.3" +HGNC:31353 SPACA5 sperm acrosome associated 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "SLLP2|LYZL5|LYC5|UNQ6288|dJ54B20.3|PNPK6288" Sperm Lysozyme-Like Protein 2 Lysozymes, c-type 1174 2004-03-16 2016-11-09 389852 ENSG00000171489 OTTHUMG00000021459 uc004diu.5 AY358844 NM_205856 CCDS14286 Q96QH8 16382448 MGI:2685564 RGD:1584964 300593 HGNC:31353 "ENST00000376940.4|NM_001394298.1" +HGNC:19142 SPACA5B sperm acrosome associated 5B protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 LYZL5B Lysozymes, c-type 1174 2007-01-08 2016-10-05 729201 ENSG00000171478 OTTHUMG00000021465 uc064ywr.1 NM_001079900 CCDS35238 Q96QH8 16382448 MGI:2685564 HGNC:19142 "ENST00000304270.6|NM_001079900.2" +HGNC:27113 SPACA6 sperm acrosome associated 6 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 LET7EH "sperm acrosome associated 6|Let-7e host" "NCRNA00085|LINC00085|SPACA6P" "non-protein coding RNA 85|long intergenic non-protein coding RNA 85|sperm acrosome associated 6, pseudogene" MicroRNA protein coding host genes 1691 2008-09-02 2015-11-04 2015-11-04 2021-10-06 147650 ENSG00000182310 OTTHUMG00000177373 "AY358799|BC041134" NM_001316972 CCDS82386 W5XKT8 "24275887|23044541" MGI:1922452 RGD:1588836 618945 HGNC:27113 "ENST00000637797.2|NM_001316972.2" +HGNC:49383 SPACA6-AS1 SPACA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 "LINC01129|SPACA6P-AS" "long intergenic non-protein coding RNA 1129|SPACA6P antisense RNA" Antisense RNAs 1987 2013-10-18 2021-06-17 2021-06-17 2021-06-17 102238594 ENSG00000269959 OTTHUMG00000183887 AK125996 NR_108100 SPACA6P-AS HGNC:49383 +HGNC:29575 SPACA7 sperm acrosome associated 7 protein-coding gene gene with protein product Approved 13q34 13q34 C13orf28 chromosome 13 open reading frame 28 2006-08-04 2011-03-15 2011-03-15 2014-11-18 122258 ENSG00000153498 OTTHUMG00000017365 uc001vsd.3 BC016750 NM_145248 CCDS9524 Q96KW9 22495889 MGI:1925884 RGD:1597409 HGNC:29575 "ENST00000283550.8|NM_145248.5" +HGNC:55609 SPACA7BP SPACA7 family member B, pseudogene pseudogene pseudogene Approved 13q34 13q34 GC14 2021-06-17 2021-06-17 105370364 ENSG00000275989 MGI:1923663 +HGNC:1367 SPACA9 sperm acrosome associated 9 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 Mast C9orf9 chromosome 9 open reading frame 9 1999-08-23 2016-04-22 2016-04-22 2020-09-17 11092 ENSG00000165698 OTTHUMG00000020847 uc004cby.2 NM_018956 "CCDS6955|CCDS83434" Q96E40 24256100 MGI:1917237 RGD:727909 618552 HGNC:1367 "ENST00000356311.10|NM_001316897.2" +HGNC:22135 SPACDR sperm acrosome developmental regulator protein-coding gene gene with protein product Approved 7q22.1 07q22.1 IMAGE:4839025 C7orf61 chromosome 7 open reading frame 61 2008-07-18 2022-02-04 2022-02-04 2022-02-04 402573 ENSG00000185955 OTTHUMG00000150234 uc003uuz.1 NM_001004323 CCDS47661 Q8IZ16 "31806366|33108537|31985809" MGI:1926079 RGD:11442159 619782 HGNC:22135 "ENST00000332375.4|NM_001004323.3" +HGNC:11212 SPAG1 sperm associated antigen 1 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "SP75|FLJ32920|HSD-3.8|TPIS|CT140|CILD28|DNAAF13" dynein axonemal assembly factor 13 "Tetratricopeptide repeat domain containing|Axonemal dynein assembly factors|R2SP complex" "769|1627|2007" 1997-09-12 2021-11-26 6674 ENSG00000104450 OTTHUMG00000164706 uc003yjh.3 AF311312 NM_172218 CCDS34930 Q07617 "16368546|24055112" MGI:1349387 RGD:1310702 603395 367631 HGNC:11212 "ENST00000388798.7|NM_003114.5" HGNC:11212 +HGNC:11214 SPAG4 sperm associated antigen 4 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "SUN4|CT127" "acrosomal protein ACR55|Sad1 and UNC84 domain containing 4|cancer/testis antigen 127" SUN family 1968 1998-08-26 2016-10-05 6676 ENSG00000061656 OTTHUMG00000032352 uc002xdb.2 AF043344 NM_003116 CCDS13259 Q9NPE6 "9691178|10373309" MGI:2444120 RGD:620151 603038 HGNC:11214 "ENST00000374273.8|NM_003116.3" +HGNC:13452 SPAG5 sperm associated antigen 5 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "DEEPEST|MAP126|hMAP126" "mitotic spindle coiled-coil related protein|astrin|mitotic spindle associated protein p126" 2002-10-08 2020-01-24 10615 ENSG00000076382 OTTHUMG00000166586 uc002hbq.4 AF063308 NM_006461 CCDS32594 Q96R06 11549262 MGI:1927470 RGD:620152 615562 HGNC:13452 "ENST00000321765.10|NM_006461.4" +HGNC:41140 SPAG5-AS1 SPAG5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q11.2 17q11.2 SPAG5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-05 2012-08-15 2020-01-30 100506436 ENSG00000227543 OTTHUMG00000132827 uc060daj.1 NR_040012 31957155 SPAG5-AS1 HGNC:41140 +HGNC:11215 SPAG6 sperm associated antigen 6 protein-coding gene gene with protein product Approved 10p12.2 10p12.2 "Repro-SA-1|PF16|CT141|FAP194|CFAP194" axoneme central apparatus protein "Armadillo repeat containing|Cilia and flagella associated" "409|1491" 1999-04-23 2020-01-28 9576 ENSG00000077327 OTTHUMG00000017808 uc001iri.4 AF079363 NM_001253854 "CCDS7140|CCDS58071|CCDS73072|CCDS7139" O75602 "10493827|24071998" MGI:3040687 RGD:1305616 605730 HGNC:11215 "ENST00000376624.8|NM_012443.4" +HGNC:11216 SPAG7 sperm associated antigen 7 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FSA-1|ACRP|MGC20134" 1999-05-28 2019-08-21 9552 ENSG00000091640 OTTHUMG00000177733 uc002gae.4 AF047437 NM_004890 CCDS42240 O75391 9653160 MGI:107380 RGD:1305473 610056 HGNC:11216 "ENST00000206020.8|NM_004890.3" +HGNC:14105 SPAG8 sperm associated antigen 8 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "hSMP-1|HSD-1|BS-84|SPAG3|CT142" 2001-01-10 2021-08-19 26206 ENSG00000137098 OTTHUMG00000019875 uc003zye.4 U12978 NM_012436 "CCDS6592|CCDS43798" Q99932 "10500252|8788182" MGI:3056295 RGD:1307079 605731 HGNC:14105 "ENST00000396638.7|NM_001039592.2" +HGNC:14524 SPAG9 sperm associated antigen 9 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "HSS|SYD1|KIAA0516|MGC14967|MGC74461|MGC117291|JLP|PHET|HLC4|FLJ13450|FLJ14006|FLJ26141|FLJ34602|CT89|JIP4|JIP-4|PIG6" "sperm surface protein|JNK/SAPK-associated protein|JNK interacting protein|sperm specific protein|c-Jun NH2-terminal kinase-associated leucine zipper protein|Max-binding protein|JNK-associated leucine-zipper protein|HLC-4 protein|lung cancer oncogene 4|proliferation-inducing gene 6|cancer/testis antigen 89" 2001-02-09 2016-10-23 9043 ENSG00000008294 OTTHUMG00000162316 uc002itb.4 AB011088 NM_003971 "CCDS58577|CCDS58578|CCDS11577|CCDS45740" O60271 "9480848|11106729" MGI:1918084 RGD:1311289 605430 HGNC:14524 "ENST00000262013.12|NM_001130528.3" HGNC:14524 +HGNC:33342 SPAG11A sperm associated antigen 11A protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "HE2|EDDM2A" epididymal protein 2A 2007-03-15 2007-03-15 2015-09-08 653423 ENSG00000178287 OTTHUMG00000162440 uc003wrw.4 NM_001081552 "CCDS87575|CCDS43700" Q6PDA7 RGD:2324475 HGNC:33342 +HGNC:14534 SPAG11B sperm associated antigen 11B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "HE2|EP2|EP2C|EP2D|EDDM2B" epididymal protein 2B 2001-02-22 2007-03-15 2007-03-15 2015-09-10 10407 ENSG00000164871 OTTHUMG00000129219 uc003wrm.4 AF168616 "NM_058202|NM_058200|NM_058201|NM_016512|NM_058203|NM_058206|NM_058207" "CCDS5965|CCDS5967|CCDS5966|CCDS47774|CCDS5964" Q08648 "8167223|1693137" MGI:3647173 RGD:1562239 606560 ligandId:10542 HGNC:14534 "ENST00000398462.7|NM_058201.4" +HGNC:23225 SPAG16 sperm associated antigen 16 protein-coding gene gene with protein product Approved 2q34 02q34 "PF20|FLJ22724|DKFZp666P1710|WDR29" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2004-10-13 2014-11-19 79582 ENSG00000144451 OTTHUMG00000133015 uc002veq.5 AF310672 NM_024532 "CCDS2396|CCDS46508" Q8N0X2 "12391165|11867345" MGI:1913972 RGD:1565062 612173 HGNC:23225 "ENST00000331683.10|NM_024532.5" +HGNC:52674 SPAG16-DT SPAG16 divergent transcript non-coding RNA RNA, long non-coding Approved 2q34 02q34 Divergent transcripts 1990 2019-05-17 2019-05-17 100130451 ENSG00000196096 OTTHUMG00000154847 NR_144752 HGNC:52674 +HGNC:26620 SPAG17 sperm associated antigen 17 protein-coding gene gene with protein product Approved 1p12 01p12 "FLJ34497|PF6|RP4-776P7.2|CT143" 2005-08-11 2014-11-19 200162 ENSG00000155761 OTTHUMG00000012198 uc001ehk.3 NM_206996 CCDS899 Q6Q759 MGI:1921612 RGD:1592218 616554 HGNC:26620 "ENST00000336338.10|NM_206996.4" HGNC:26620 +HGNC:11217 SPAM1 sperm adhesion molecule 1 protein-coding gene gene with protein product Approved 7q31 07q31 "HYAL5|PH-20|SPAG15" PH-20 hyaluronidase sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) Hyaluronidases 1448 1995-07-18 2016-03-15 2016-03-15 6677 ENSG00000106304 OTTHUMG00000157284 uc003vle.4 L13781 NM_001174044 "CCDS5790|CCDS5791" P38567 "8282124|8575780" "MGI:109335|MGI:1921718" RGD:620547 600930 HGNC:11217 "ENST00000682466.1|NM_153189.3" +HGNC:11218 SPANXA1 sperm protein associated with the nucleus, X-linked, family member A1 protein-coding gene gene with protein product Approved Xq27.2 Xq27.2 "NAP-X|SPAN-Xa|SPAN-Xb|CT11.1" cancer/testis antigen family 11, member 1 SPANX sperm protein associated with the nucleus, X chromosome, family member A1 SPANX family 1834 2000-03-03 2003-09-12 2014-11-19 30014 ENSG00000198021 OTTHUMG00000022564 uc065bkj.1 AF098306 NM_013453 CCDS14674 Q9NS26 10906052 300305 HGNC:11218 +HGNC:14328 SPANXA2 SPANX family member A2 protein-coding gene gene with protein product Approved Xq27.2 Xq27.2 SPANX SPANX family, member A2 SPANX family 1834 2001-01-03 2015-11-18 2015-11-18 728712 ENSG00000203926 OTTHUMG00000022565 uc004fbo.4 NM_145662 CCDS44007 Q9NS26 300493 HGNC:14328 "ENST00000370518.4|NM_145662.4" +HGNC:31683 SPANXA2-OT1 SPANXA2 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved Xq27.2 Xq27.2 FLJ36186 CXorf18 "chromosome X open reading frame 18|SPANXA2 overlapping transcript 1 (non-protein coding)" Overlapping transcripts 1988 2005-10-06 2011-08-31 2014-06-02 2015-01-30 619455 ENSG00000277215 OTTHUMG00000022566 uc065bki.1 AK093505 NR_037183 Q8N9U9 SPANXA2-OT1 HGNC:31683 +HGNC:14329 SPANXB1 SPANX family member B1 protein-coding gene gene with protein product Approved Xq27.1 Xq27.1 CT11.2 cancer/testis antigen family 11, member 2 "SPANXB2|SPANXF1|SPANXF2" "SPANX family, member B2|SPANX family, member F1|SPANX family, member F2|SPANX family, member B1" SPANX family 1834 2001-01-03 2015-11-18 2015-11-18 728695 ENSG00000227234 OTTHUMG00000022554 uc004fbi.3 NM_032461 CCDS44006 Q9NS25 300669 HGNC:14329 "ENST00000449283.2|NM_032461.4" +HGNC:14331 SPANXC SPANX family member C protein-coding gene gene with protein product Approved Xq27.2 Xq27.2 "CTp11|CT11.3" cancer/testis antigen family 11, member 3 SPANX family, member C SPANX family 1834 2001-01-03 2015-11-18 2015-11-18 64663 ENSG00000198573 OTTHUMG00000022556 uc033exl.2 AJ238277 NM_022661 CCDS14673 Q9NY87 10626816 300330 HGNC:14331 "ENST00000358993.3|NM_022661.4" +HGNC:14332 SPANXD SPANX family member D protein-coding gene gene with protein product Approved Xq27.2 Xq27.2 CT11.4 cancer/testis antigen family 11, member 4 SPANXE "SPANX family, member E|SPANX family, member D" SPANX family 1834 2001-01-03 2015-11-18 2015-11-18 64648 ENSG00000196406 OTTHUMG00000022563 uc004fbq.5 AJ457791 NM_032417 CCDS14675 Q9BXN6 300670 HGNC:14332 "ENST00000370515.3|NM_032417.4" +HGNC:33174 SPANXN1 SPANX family member N1 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "SPANX-N1|CT11.6" cancer/testis antigen family 11, member 6 SPANX family, member N1 SPANX family 1834 2006-11-13 2015-11-18 2020-04-02 494118 ENSG00000203923 OTTHUMG00000022593 uc004fcb.3 NM_001009614 CCDS35421 Q5VSR9 "14973187|17012309" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SPANXN1 300664 HGNC:33174 "ENST00000370493.4|NM_001009614.3" +HGNC:33175 SPANXN2 SPANX family member N2 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "SPANX-N2|CT11.7" cancer/testis antigen family 11, member 7 SPANX family, member N2 SPANX family 1834 2006-11-13 2015-11-18 2015-11-18 494119 ENSG00000268988 OTTHUMG00000022583 uc033exw.1 NM_001009615 CCDS35419 Q5MJ10 "14973187|17012309" 300665 HGNC:33175 +HGNC:33176 SPANXN3 SPANX family member N3 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "SPANX-N3|CT11.8" cancer/testis antigen family 11, member 8 SPANX family, member N3 SPANX family 1834 2006-11-13 2015-11-18 2015-11-18 139067 ENSG00000189252 OTTHUMG00000022582 uc004fbw.4 NM_001009609 CCDS35418 Q5MJ09 "14973187|17012309" 300666 HGNC:33176 "ENST00000370503.2|NM_001009609.4" +HGNC:33177 SPANXN4 SPANX family member N4 protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "SPANX-N4|CT11.9" cancer/testis antigen family 11, member 9 SPANX family, member N4 SPANX family 1834 2006-11-13 2015-11-18 2020-04-02 441525 ENSG00000189326 OTTHUMG00000022575 uc004fbv.4 DQ336126 NM_001009613 CCDS48178 Q5MJ08 "14973187|17012309" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SPANXN4 300667 HGNC:33177 +HGNC:33178 SPANXN5 SPANX family member N5 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "SPANX-N5|CT11.10" cancer/testis antigen family 11, member 10 SPANX family, member N5 SPANX family 1834 2006-11-13 2015-11-18 2020-04-01 494197 ENSG00000204363 OTTHUMG00000021590 uc004drc.2 NM_001009616 CCDS35295 Q5MJ07 "14973187|17012309" 300668 HGNC:33178 "ENST00000375511.4|NM_001009616.4" +HGNC:11219 SPARC secreted protein acidic and cysteine rich protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "ONT|BM-40" "cysteine-rich protein|secreted protein acidic and rich in cysteine" ON osteonectin SPARC family 1278 2001-06-22 2016-01-28 2019-11-26 6678 ENSG00000113140 OTTHUMG00000130122 uc003lui.5 NM_003118 CCDS4318 P09486 "2838412|3410046" MGI:98373 RGD:3742 182120 434708 HGNC:11219 "ENST00000231061.9|NM_003118.4" HGNC:11219 +HGNC:11220 SPARCL1 SPARC like 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 MAST9 hevin SPARC-like 1 (mast9, hevin) SPARC family 1278 1998-09-17 2015-11-13 2016-10-05 8404 ENSG00000152583 OTTHUMG00000130605 uc003hqs.5 X86693 NM_001128310 "CCDS3622|CCDS77939" Q14515 "8488563|7600298|16844696" MGI:108110 RGD:2531 606041 HGNC:11220 "ENST00000282470.11|NM_004684.6" +HGNC:18514 SPART spartin protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "KIAA0610|TAHCCP1" spartin SPG20 spastic paraplegia 20 (Troyer syndrome) 2003-01-20 2017-05-30 2017-05-30 2019-09-05 23111 ENSG00000133104 OTTHUMG00000016730 uc001uvq.4 AB011182 NM_001142294 CCDS9356 Q8N0X7 "6022528|12134148" MGI:2139806 RGD:1305900 607111 119811 HGNC:18514 "ENST00000438666.7|NM_015087.5" HGNC:18514 +HGNC:39933 SPART-AS1 SPART antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q13.3 13q13.3 "C13orf43|SPG20OS|SPG20-AS1" "chromosome 13 open reading frame 43|SPG20 opposite strand|SPG20 antisense RNA 1" Antisense RNAs 1987 2011-04-12 2017-06-29 2017-06-29 2017-06-29 100507135 ENSG00000120664 OTTHUMG00000016732 NR_045180 P0CW21 SPG20-AS1 HGNC:39933 +HGNC:11233 SPAST spastin protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "FSP2|ADPSP|KIAA1083" SPG4 spastic paraplegia 4 (autosomal dominant; spastin) AAA ATPases 413 1993-10-28 2005-03-17 2005-03-15 2021-04-13 6683 ENSG00000021574 OTTHUMG00000128455 uc002roc.4 AJ246001 NM_199436 "CCDS1779|CCDS86830|CCDS1778" Q9UBP0 "10493830|10610178" MGI:1858896 RGD:1308494 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_714|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_714.xml" 604277 119801 HGNC:11233 "ENST00000315285.9|NM_014946.4" HGNC:11233 +HGNC:14682 SPATA1 spermatogenesis associated 1 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 SP-2 2001-03-01 2020-04-20 100505741 ENSG00000122432 OTTHUMG00000009924 AF306347 NM_022354 CCDS85993 Q5VX52 MGI:1918201 RGD:1359500 HGNC:14682 +HGNC:14681 SPATA2 spermatogenesis associated 2 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "KIAA0757|PD1|tamo|PPP1R145" protein phosphatase 1, regulatory subunit 145 Protein phosphatase 1 regulatory subunits 694 2001-03-15 2014-11-19 9825 ENSG00000158480 OTTHUMG00000032704 uc002xuw.5 AB018300 NM_006038 CCDS13422 Q9UM82 MGI:2146885 RGD:620754 607662 471140 HGNC:14681 "ENST00000289431.10|NM_006038.4" +HGNC:28393 SPATA2L spermatogenesis associated 2 like protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "MGC26885|tamo" C16orf76 chromosome 16 open reading frame 76 2006-07-04 2007-01-30 2016-01-14 2016-01-14 124044 ENSG00000158792 OTTHUMG00000138047 uc002foj.4 AF070574 NM_152339 CCDS10985 Q8IUW3 8619474 MGI:1926029 RGD:1560840 HGNC:28393 "ENST00000289805.10|NM_152339.4" +HGNC:39446 SPATA2P1 spermatogenesis associated 2 pseudogene 1 pseudogene pseudogene Approved 13q21.1 13q21.1 2011-01-12 2011-01-12 100873966 ENSG00000228319 OTTHUMG00000016987 NG_032304 PGOHUM00000248604 HGNC:39446 +HGNC:17884 SPATA3 spermatogenesis associated 3 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 TSARG1 2002-01-25 2015-08-26 130560 ENSG00000173699 OTTHUMG00000133221 uc061tla.1 AY032925 NM_139073 CCDS2481 Q8NHX4 MGI:1917310 RGD:1308164 HGNC:17884 HGNC:17884 +HGNC:28013 SPATA3-AS1 SPATA3 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 2q37.1 02q37.1 Antisense RNAs 1987 2013-10-14 2014-11-19 348761 ENSG00000238062 OTTHUMG00000154076 NR_033879 12477932 SPATA3-AS1 HGNC:28013 +HGNC:17333 SPATA4 spermatogenesis associated 4 protein-coding gene gene with protein product Approved 4q34.2 04q34.2 "TSARG2|SPEF1B|FAP178|CFAP178" Cilia and flagella associated 1491 2002-01-25 2020-01-28 132851 ENSG00000150628 OTTHUMG00000160788 uc003iuo.2 AY040204 NM_144644 CCDS3826 Q8NEY3 23604077 MGI:1916531 RGD:1303065 609879 HGNC:17333 "ENST00000280191.7|NM_144644.4" +HGNC:18119 SPATA5 spermatogenesis associated 5 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 "SPAF|AFG2" ATPase family gene 2 homolog (S. cerevisiae) AAA ATPases 413 2002-02-04 2019-09-06 166378 ENSG00000145375 OTTHUMG00000133074 uc003iez.5 AF361489 NM_145207 CCDS3730 Q8NB90 16465403 MGI:1927170 RGD:1310478 613940 460755 HGNC:18119 "ENST00000274008.5|NM_145207.3" HGNC:18119 +HGNC:28762 SPATA5L1 spermatogenesis associated 5 like 1 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "MGC5347|FLJ12286" AAA ATPases 413 2004-03-16 2016-01-14 2022-01-10 79029 ENSG00000171763 OTTHUMG00000131425 uc001zve.4 AK023232 NM_024063 "CCDS10123|CCDS81877" Q9BVQ7 34626583 MGI:3036261 RGD:1595990 619578 HGNC:28762 "ENST00000305560.11|NM_024063.3" +HGNC:18309 SPATA6 spermatogenesis associated 6 protein-coding gene gene with protein product Approved 1p33 01p33 "SRF1|FLJ10007|SRF-1" spermatogenesis-related factor-1 2002-02-28 2016-10-05 54558 ENSG00000132122 OTTHUMG00000007794 uc001crr.4 AK000869 NM_019073 "CCDS65535|CCDS72787|CCDS551" Q9NWH7 MGI:1915196 RGD:628657 613947 HGNC:18309 "ENST00000371847.8|NM_019073.4" +HGNC:25472 SPATA6L spermatogenesis associated 6 like protein-coding gene gene with protein product Approved 9p24.2-p24.1 09p24.2-p24.1 FLJ10058 C9orf68 chromosome 9 open reading frame 68 2004-01-06 2012-03-15 2016-01-14 2018-02-13 55064 ENSG00000106686 OTTHUMG00000019469 uc011llz.3 AK000920 NM_017985 CCDS43785 Q8N4H0 MGI:1918036 RGD:1310039 HGNC:25472 "ENST00000682582.1|NM_001353486.2" +HGNC:20423 SPATA7 spermatogenesis associated 7 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 HSD3 LCA3 Leber congenital amaurosis 3 2003-03-07 2020-04-01 55812 ENSG00000042317 OTTHUMG00000170744 uc001xwq.5 AF144487 NM_001040428 "CCDS9883|CCDS32132" Q9P0W8 "9799089|19268277" MGI:2144877 RGD:621010 609868 178826 HGNC:20423 "ENST00000393545.9|NM_018418.5" HGNC:20423 +HGNC:28676 SPATA8 spermatogenesis associated 8 non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 "MGC44294|SRG8" spermatogenesis-related gene 8 Long non-coding RNAs with non-systematic symbols 1992 2005-01-10 2020-09-03 145946 ENSG00000185594 OTTHUMG00000149847 uc002bue.4 AY489187 NR_158223 Q6RVD6 16809841 613948 HGNC:28676 +HGNC:48627 SPATA8-AS1 SPATA8 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 15q26.2 15q26.2 Antisense RNAs 1987 2013-05-29 2013-05-29 100652749 ENSG00000259282 OTTHUMG00000172033 NR_102753 SPATA8-AS1 HGNC:48627 +HGNC:22988 SPATA9 spermatogenesis associated 9 protein-coding gene gene with protein product Approved 5q15 05q15 "NYD-SP16|FLJ35906" 2003-09-01 2016-04-22 83890 ENSG00000145757 OTTHUMG00000121169 uc003klj.2 AK093225 NM_031952 CCDS4076 Q9BWV2 12493713 MGI:1922821 RGD:1308291 608039 HGNC:22988 "ENST00000274432.13|NM_031952.4" +HGNC:23221 SPATA12 spermatogenesis associated 12 protein-coding gene gene with protein product Approved 3p14.3 03p14.3 2003-10-22 2016-10-05 353324 ENSG00000186451 OTTHUMG00000158862 uc003dij.1 AY221117 NM_181727 CCDS2879 Q7Z6I5 "22981541|17251597" 609869 HGNC:23221 "ENST00000334325.2|NM_181727.2" +HGNC:23222 SPATA13 spermatogenesis associated 13 protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "FLJ31208|ARHGEF29|ASEF2" APC stimulated guanine nucleotide exchange factor 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs|MicroRNA protein coding host genes" "682|722|1691" 2003-10-20 2020-11-11 221178 ENSG00000182957 OTTHUMG00000016578 uc001upg.4 AK055770 NM_153023 "CCDS9305|CCDS66517|CCDS66518|CCDS53857|CCDS73553" Q96N96 MGI:104838 RGD:1307364 613324 HGNC:23222 "ENST00000382108.8|NM_001166271.3" +HGNC:39905 SPATA13-AS1 SPATA13 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.12 13q12.12 SPATA13 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-11 2012-08-15 2014-11-19 100874231 ENSG00000227213 OTTHUMG00000016580 uc031qkt.1 NR_046531 SPATA13-AS1 HGNC:39905 +HGNC:29935 SPATA16 spermatogenesis associated 16 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 NYD-SP12 2005-01-25 2014-11-19 83893 ENSG00000144962 OTTHUMG00000156865 uc003fin.5 AF345909 NM_031955 CCDS3221 Q9BXB7 "12529416|17847006" MGI:1918112 RGD:1563726 609856 181121 HGNC:29935 "ENST00000351008.4|NM_031955.6" HGNC:29935 +HGNC:25184 SPATA17 spermatogenesis associated 17 protein-coding gene gene with protein product Approved 1q41 01q41 "IQCH|MOT17|FAP305|CFAP305" IQ motif containing H Cilia and flagella associated 1491 2006-03-24 2020-01-28 128153 ENSG00000162814 OTTHUMG00000037875 uc001hlh.2 AK098591 NM_138796 CCDS1519 Q96L03 16395525 MGI:1921967 RGD:1565282 611032 HGNC:25184 "ENST00000366933.5|NM_138796.4" +HGNC:41086 SPATA17-AS1 SPATA17 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2013-10-28 2014-11-19 103752555 ENSG00000234070 OTTHUMG00000038051 AI025201 NR_125784 SPATA17-AS1 HGNC:41086 +HGNC:29579 SPATA18 spermatogenesis associated 18 protein-coding gene gene with protein product Approved 4q12 04q12 FLJ32906 spermatogenesis associated 18 homolog (rat) 2005-04-15 2012-01-23 2016-10-05 132671 ENSG00000163071 OTTHUMG00000128698 uc003gzl.4 BC025396 NM_145263 "CCDS3489|CCDS75124" Q8TC71 21300779 MGI:1920722 RGD:735208 612814 HGNC:29579 "ENST00000295213.9|NM_145263.4" +HGNC:30614 SPATA19 spermatogenesis associated 19 protein-coding gene gene with protein product Approved 11q25 11q25 "FLJ25851|spergen1|SPAS1|CT132" "spergen 1|cancer/testis antigen 132" 2005-05-24 2020-04-01 219938 ENSG00000166118 OTTHUMG00000167120 uc001qgv.2 AK098717 NM_174927 CCDS8493 Q7Z5L4 "12688595|26265198" MGI:1922719 RGD:620628 609805 HGNC:30614 "ENST00000299140.8|NM_174927.3" +HGNC:26125 SPATA20 spermatogenesis associated 20 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "FLJ21347|SSP411|Tisp78" hypothetical protein FLJ21347 2005-05-25 2019-03-19 64847 ENSG00000006282 OTTHUMG00000162162 uc002ird.4 NM_022827 "CCDS58564|CCDS11571|CCDS58563" Q8TB22 23118872 MGI:2183449 RGD:735087 613939 HGNC:26125 "ENST00000006658.11|NM_022827.4" +HGNC:39636 SPATA20P1 spermatogenesis associated 20 pseudogene 1 pseudogene pseudogene Approved 21q22.13 21q22.13 2011-03-17 2011-03-17 100874060 ENSG00000231123 OTTHUMG00000090612 NG_032331 PGOHUM00000239082 HGNC:39636 +HGNC:28026 SPATA21 spermatogenesis associated 21 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "spergen-2|spergen2" EF-hand domain containing 863 2005-07-13 2015-08-26 374955 ENSG00000187144 OTTHUMG00000002312 uc001ayn.3 NM_198546 "CCDS172|CCDS85935" Q7Z572 MGI:3607787 RGD:1302954 HGNC:28026 "ENST00000335496.5|NM_198546.1" +HGNC:30705 SPATA22 spermatogenesis associated 22 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 NYD-SP20 2005-12-19 2020-04-01 84690 ENSG00000141255 OTTHUMG00000177609 uc010vrg.4 AY035868 NM_032598 "CCDS82036|CCDS11027|CCDS54067|CCDS54066" Q8NHS9 28453612 MGI:2685728 RGD:1565378 617673 HGNC:30705 "ENST00000572969.6|NM_001170698.2" +HGNC:27322 SPATA24 spermatogenesis associated 24 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "T6441|CCDC161" coiled-coil domain containing 161 2009-09-30 2009-09-30 2014-02-12 202051 ENSG00000170469 OTTHUMG00000163388 uc003lek.3 AK098740 NM_194296 CCDS47274 Q86W54 16146721 MGI:1918492 RGD:1311742 HGNC:27322 "ENST00000450845.7|NM_194296.2" +HGNC:16158 SPATA25 spermatogenesis associated 25 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ337O18.8|TSG23" C20orf165 chromosome 20 open reading frame 165 2001-07-17 2011-11-24 2011-11-24 2015-08-26 128497 ENSG00000149634 OTTHUMG00000032628 uc002xqf.4 AL008726 NM_080608 CCDS13383 Q9BR10 19240080 MGI:1922892 RGD:1564523 618936 HGNC:16158 "ENST00000372519.4|NM_080608.4" +HGNC:23394 SPATA31A1 SPATA31 subfamily A member 1 protein-coding gene gene with protein product Approved 9p12 09p12 "DKFZP434B204|C9orf36A" "C9orf36|FAM75A1|SPATA31A2|FAM75A2" "chromosome 9 open reading frame 36|family with sequence similarity 75, member A1|SPATA31 subfamily A, member 2|family with sequence similarity 75, member A2" 2003-11-14 2012-10-12 2016-06-07 2016-06-07 647060 ENSG00000204849 OTTHUMG00000013156 uc064tes.1 NM_001085452 CCDS43808 Q5TZJ5 20850414 MGI:1925374 HGNC:23394 "ENST00000377647.6|NM_001085452.4" +HGNC:32003 SPATA31A3 SPATA31 subfamily A member 3 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "OTTHUMG00000013164|DKFZp434B204" FAM75A3 family with sequence similarity 75, member A3 2007-03-20 2012-10-12 2016-06-07 2016-10-05 727830 ENSG00000275969 OTTHUMG00000188260 uc010mmj.5 NM_001083124 CCDS78400 Q5VYP0 20850414 MGI:1925374 HGNC:32003 +HGNC:32005 SPATA31A5 SPATA31 subfamily A member 5 protein-coding gene gene with protein product Approved 9q12 09q12 OTTHUMG00000013204 FAM75A5 family with sequence similarity 75, member A5 2007-03-20 2012-10-12 2016-06-07 2016-10-05 727905 ENSG00000276581 OTTHUMG00000188283 uc004abu.6 NM_001113541 CCDS47970 Q5VU36 20850414 MGI:1925374 HGNC:32005 "ENST00000437823.5|NM_001113541.3" +HGNC:32006 SPATA31A6 SPATA31 subfamily A member 6 protein-coding gene gene with protein product Approved 9p11.2 09p11.2 OTTHUMG00000013224 FAM75A6 family with sequence similarity 75, member A6 2007-03-20 2012-10-12 2016-06-07 2016-06-07 389730 ENSG00000185775 OTTHUMG00000013224 uc033csq.2 NM_001145196 CCDS75837 Q5VVP1 20850414 MGI:1925374 RGD:727950 HGNC:32006 "ENST00000332857.7|NM_001145196.1" +HGNC:32007 SPATA31A7 SPATA31 subfamily A member 7 protein-coding gene gene with protein product Approved 9q12 09q12 "FAM75A7|SPATA31A4|FAM75A4" "family with sequence similarity 75, member A7|SPATA31 subfamily A, member 4|family with sequence similarity 75, member A4" 2007-03-20 2012-10-12 2016-06-07 2016-06-07 26165 ENSG00000276040 OTTHUMG00000188536 uc033ctg.2 NM_015667 CCDS75838 Q8IWB4 20850414 MGI:1925374 616584 HGNC:32007 +HGNC:31411 SPATA31B1P SPATA31 subfamily B member 1, pseudogene pseudogene pseudogene Approved 9q21.32 09q21.32 bA388B24.2 "C9orf36B|FAM75B|SPATA31B1" "chromosome 9 open reading frame 36B|family with sequence similarity 75, member B|SPATA31 subfamily B, member 1" 2004-04-14 2014-04-01 2016-06-07 2016-09-27 404770 ENSG00000231649 OTTHUMG00000020090 NG_046749 PGOHUM00000306611 HGNC:31411 +HGNC:27846 SPATA31C1 SPATA31 subfamily C member 1 other unknown Approved 9q22.1 09q22.1 FLJ36055 FAM75C1 family with sequence similarity 75, member C1 2007-07-04 2012-10-12 2016-06-07 2019-06-28 441452 ENSG00000230246 OTTHUMG00000020160 AK093374 NM_001145124 P0DKV0 MGI:1925374 PGOHUM00000236683 HGNC:27846 +HGNC:24508 SPATA31C2 SPATA31 subfamily C member 2 other unknown Approved 9q22.1 09q22.1 DKFZP434M131 FAM75C2 family with sequence similarity 75, member C2 2007-07-04 2012-10-12 2016-06-07 2019-06-28 645961 ENSG00000177910 OTTHUMG00000020164 NM_001166137 B4DYI2 PGOHUM00000306612 HGNC:24508 "ENST00000324915.6|NM_001350978.3" +HGNC:37283 SPATA31D1 SPATA31 subfamily D member 1 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 FLJ46321 FAM75D1 family with sequence similarity 75, member D1 2010-08-18 2012-10-12 2016-06-07 2016-06-07 389763 ENSG00000214929 OTTHUMG00000169122 uc004amn.3 NM_001001670 CCDS47986 Q6ZQQ2 "MGI:1919469|MGI:1921474|MGI:3045260|MGI:3646080" RGD:1565972 HGNC:37283 "ENST00000344803.3|NM_001001670.3" +HGNC:38607 SPATA31D2P SPATA31 subfamily D member 2, pseudogene pseudogene pseudogene Approved 9q21.32 09q21.32 FAM75D2P family with sequence similarity 75, member D2, pseudogene 2010-08-18 2012-10-12 2016-06-07 2016-06-07 100130636 ENSG00000237770 OTTHUMG00000020089 NG_009643 PGOHUM00000236662 HGNC:38607 +HGNC:38603 SPATA31D3 SPATA31 subfamily D member 3 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 FLJ44082 FAM75D3 family with sequence similarity 75, member D3 2010-08-18 2012-10-12 2016-06-07 2016-07-19 389762 ENSG00000186788 OTTHUMG00000020084 uc284qyp.1 NM_207416 CCDS83380 P0C874 "MGI:1919469|MGI:3646080" RGD:1311452 HGNC:38603 "ENST00000445385.3|NM_207416.3" +HGNC:38601 SPATA31D4 SPATA31 subfamily D member 4 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 FLJ43859 FAM75D4 family with sequence similarity 75, member D4 2010-08-18 2012-10-12 2016-06-07 2016-07-19 389761 ENSG00000189357 OTTHUMG00000020088 uc284qyo.1 NM_001145197 CCDS83379 Q6ZUB0 "MGI:1919469|MGI:3646080" HGNC:38601 "ENST00000419782.5|NM_001145197.1" +HGNC:38602 SPATA31D5P SPATA31 subfamily D member 5, pseudogene pseudogene pseudogene Approved 9q21.32 09q21.32 "FLJ43950|FAM75D5P" FAM75D5 "family with sequence similarity 75, member D5|family with sequence similarity 75, member D5, pseudogene" 2010-08-18 2012-10-12 2016-06-07 2016-06-07 347127 ENSG00000240632 OTTHUMG00000020087 NR_026851 PGOHUM00000236659 HGNC:38602 +HGNC:26672 SPATA31E1 SPATA31 subfamily E member 1 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 FLJ35866 "C9orf79|FAM75E1" "chromosome 9 open reading frame 79|family with sequence similarity 75, member E1" 2004-01-27 2012-10-12 2016-06-07 2016-10-05 286234 ENSG00000177992 OTTHUMG00000020157 uc004app.5 AK093185 NM_178828 CCDS6676 Q6ZUB1 "MGI:2685443|MGI:2685752|MGI:3704126|MGI:5589461" RGD:6489933 HGNC:26672 "ENST00000325643.6|NM_178828.5" +HGNC:43827 SPATA31E2P SPATA31 subfamily E member 2, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 FAM75E2P family with sequence similarity 75, member E2, pseudogene 2012-03-16 2012-10-12 2016-06-07 2016-06-07 646177 ENSG00000258916 OTTHUMG00000171666 NG_022095 PGOHUM00000246620 HGNC:43827 +HGNC:43828 SPATA31E3P SPATA31 subfamily E member 3, pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 FAM75E3P family with sequence similarity 75, member E3, pseudogene 2012-03-16 2012-10-12 2016-06-07 2016-06-07 646507 ENSG00000274279 OTTHUMG00000188383 NG_022101 PGOHUM00000293125 HGNC:43828 +HGNC:26349 SPATA32 spermatogenesis associated 32 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "FLJ25414|AEP2|VAD1.2" acrosome expressed 2 "C17orf46|TEX34" "chromosome 17 open reading frame 46|testis expressed 34" 2005-12-13 2012-10-08 2012-10-08 2014-11-18 124783 ENSG00000184361 OTTHUMG00000180363 uc002iis.1 AK058143 NM_152343 CCDS32669 Q96LK8 18621766 MGI:3045340 RGD:1359156 HGNC:26349 "ENST00000331780.5|NM_152343.3" +HGNC:26463 SPATA33 spermatogenesis associated 33 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 FLJ31606 C16orf55 chromosome 16 open reading frame 55 2005-04-12 2013-07-05 2013-07-05 2017-07-21 124045 ENSG00000167523 OTTHUMG00000138048 AK056168 NM_153025 "CCDS62012|CCDS73929|CCDS10983" Q96N06 23844118 MGI:2444920 RGD:1561507 615409 HGNC:26463 "ENST00000579310.6|NM_001271907.2" +HGNC:48613 SPATA41 spermatogenesis associated 41 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 "FLJ42289|HSD47" spermatogenesis associated 41 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-05-24 2018-05-16 2018-05-16 388182 ENSG00000189419 OTTHUMG00000172281 "AK057536|AK124283|BC028144|DB060272" NR_028139 SPATA41 HGNC:48613 +HGNC:41198 SPATA42 spermatogenesis associated 42 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 "SRG7|AKNAD1-AS1" "spermatogenesis-related gene 7|AKNAD1 antisense RNA 1" spermatogenesis associated 42 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-06-03 2018-05-16 2018-05-16 642864 ENSG00000203897 OTTHUMG00000011731 NR_034168 SPATA42 HGNC:41198 +HGNC:33709 SPATA45 spermatogenesis associated 45 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 LOC149643 C1orf227 chromosome 1 open reading frame 227 2009-03-12 2014-02-21 2014-02-21 2014-02-21 149643 ENSG00000185523 OTTHUMG00000036920 NM_001024601 CCDS31020 Q537H7 MGI:1922808 RGD:1591344 HGNC:33709 "ENST00000332912.3|NM_001024601.3" +HGNC:27648 SPATA46 spermatogenesis associated 46 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 TEKT2BP2 C1orf111 chromosome 1 open reading frame 111 2005-06-07 2016-11-17 2016-11-17 2021-04-30 284680 ENSG00000171722 OTTHUMG00000031375 uc001gbx.3 BC032957 NM_182581 CCDS1238 Q5T0L3 "24394471|27488028" MGI:1924175 RGD:1565283 617257 HGNC:27648 "ENST00000367935.10|NM_182581.4" +HGNC:22564 SPATA48 spermatogenesis associated 48 protein-coding gene gene with protein product Approved 7p12.2 07p12.2 C7orf72 chromosome 7 open reading frame 72 2009-10-14 2017-08-09 2017-08-09 2019-08-12 100130988 ENSG00000164500 OTTHUMG00000155883 uc011kcj.3 NM_001161834 CCDS47585 A4D263 "22110678|29700843" MGI:1921112 RGD:1309870 HGNC:22564 "ENST00000297001.7|NM_001161834.3" +HGNC:30510 SPATC1 spermatogenesis and centriole associated 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "MGC61633|SPATA15|SPERIOLIN" 2005-01-11 2014-11-19 375686 ENSG00000186583 OTTHUMG00000156976 uc011lkw.3 BC053547 NM_198572 "CCDS47937|CCDS6413" Q76KD6 15280373 MGI:1921531 RGD:1565316 610874 HGNC:30510 "ENST00000377470.8|NM_198572.3" +HGNC:1298 SPATC1L spermatogenesis and centriole associated 1 like protein-coding gene gene with protein product Approved 21q22.3 21q22.3 speriolin-like protein C21orf56 "chromosome 21 open reading frame 56|spermatogenesis and centriole associated 1-like" 2000-05-23 2012-11-12 2017-01-11 2020-09-17 84221 ENSG00000160284 OTTHUMG00000090487 uc011afu.3 BC009497 NM_032261 "CCDS46653|CCDS13732" Q9H0A9 MGI:1923823 RGD:11505374 612412 HGNC:1298 "ENST00000291672.6|NM_001142854.2" HGNC:1298 +HGNC:22957 SPATS1 spermatogenesis associated serine rich 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "SPATA8|FLJ25442|SRSP1" spermatogenesis associated, serine-rich 1 2003-08-08 2016-03-11 2016-03-11 221409 ENSG00000249481 OTTHUMG00000014764 uc021yzz.2 AK058171 NM_145026 CCDS4911 Q496A3 MGI:1918270 RGD:631367 HGNC:22957 "ENST00000674044.1|NM_001372081.1" +HGNC:18650 SPATS2 spermatogenesis associated serine rich 2 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "SPATA10|SCR59|FLJ13117" spermatogenesis associated, serine-rich 2 2003-09-01 2016-03-11 2020-04-01 65244 ENSG00000123352 OTTHUMG00000169419 uc009zli.2 AK023179 NM_023071 CCDS31794 Q86XZ4 "11944913|17989879" MGI:1919822 RGD:1304780 611667 HGNC:18650 "ENST00000552918.6|NM_023071.4" +HGNC:24574 SPATS2L spermatogenesis associated serine rich 2 like protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "DNAPTP6|SGNP" "DNA polymerase transactivated protein 6|stress granule and nucleolar protein" spermatogenesis associated, serine-rich 2-like 2009-06-12 2016-03-11 2016-03-11 26010 ENSG00000196141 OTTHUMG00000154589 uc002uvn.5 AF193059 NM_015535 "CCDS46484|CCDS74621|CCDS46483|CCDS74622" Q9NUQ6 "19005571|22792082" MGI:1914448 RGD:1309930 613817 HGNC:24574 "ENST00000409140.8|NM_001100423.2" +HGNC:26913 SPC24 SPC24 component of NDC80 kinetochore complex protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ90806 SPBC24 "spindle pole body component 24 homolog (S. cerevisiae)|SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)|SPC24, NDC80 kinetochore complex component" NDC80 kinetochore complex 1573 2005-02-22 2007-03-02 2019-01-25 2020-04-01 147841 ENSG00000161888 OTTHUMG00000180798 uc002mql.3 AK075287 NM_182513 CCDS45974 Q8NBT2 MGI:1914879 RGD:1307631 609394 HGNC:26913 "ENST00000592540.6|NM_182513.4" +HGNC:24031 SPC25 SPC25 component of NDC80 kinetochore complex protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "MGC22228|AD024" SPBC25 "spindle pole body component 25 homolog (S. cerevisiae)|SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)|SPC25, NDC80 kinetochore complex component" NDC80 kinetochore complex 1573 2005-02-22 2007-03-02 2019-01-25 2019-01-25 57405 ENSG00000152253 OTTHUMG00000132181 uc002uel.4 AF225416 NM_020675 CCDS2229 Q9HBM1 15961401 MGI:1913692 RGD:1307811 609395 HGNC:24031 "ENST00000282074.7|NM_020675.4" +HGNC:23401 SPCS1 signal peptidase complex subunit 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "SPC12|HSPC033|YJR010C-A|SPC1" signal peptidase complex 12 kDa subunit signal peptidase complex subunit 1 homolog (S. cerevisiae) 2005-01-05 2015-07-23 2016-10-05 28972 ENSG00000114902 OTTHUMG00000154930 uc062kpj.1 AF092138 NM_014041 CCDS33769 Q9Y6A9 "8632014|24009510" MGI:1916269 RGD:1309125 610358 HGNC:23401 "ENST00000619898.5|NM_014041.5" +HGNC:28962 SPCS2 signal peptidase complex subunit 2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 KIAA0102 signal peptidase 25kDa subunit signal peptidase complex subunit 2 homolog (S. cerevisiae) 2005-01-05 2015-07-23 2015-07-23 9789 ENSG00000118363 OTTHUMG00000165517 uc001ovu.2 D14658 NM_014752 CCDS44681 Q15005 "8632014|24480542" MGI:1913874 RGD:1311253 619411 HGNC:28962 "ENST00000263672.11|NM_014752.3" +HGNC:31885 SPCS2P1 signal peptidase complex subunit 2 pseudogene 1 pseudogene pseudogene Approved 15q15.2 15q15.2 SPCS2P signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 2005-01-05 2013-03-11 2017-05-23 2020-04-20 100131250 ENSG00000260928 OTTHUMG00000176486 NG_022127 PGOHUM00000247099 HGNC:31885 +HGNC:45235 SPCS2P2 signal peptidase complex subunit 2 pseudogene 2 pseudogene pseudogene Approved 10q24.31 10q24.31 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 2 2013-03-11 2017-05-23 2017-05-23 644573 ENSG00000270623 OTTHUMG00000184686 NG_022158 PGOHUM00000289979 HGNC:45235 +HGNC:45236 SPCS2P3 signal peptidase complex subunit 2 pseudogene 3 pseudogene pseudogene Approved 5p15.33 05p15.33 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 3 2013-03-11 2017-05-23 2017-05-23 100288739 ENSG00000247872 OTTHUMG00000161652 NG_021874 PGOHUM00000235497 HGNC:45236 +HGNC:45237 SPCS2P4 signal peptidase complex subunit 2 pseudogene 4 pseudogene pseudogene Approved 1p35.3 01p35.3 signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 4 2013-03-11 2017-05-23 2017-05-23 653566 ENSG00000228589 OTTHUMG00000003917 NG_006558 HGNC:45237 +HGNC:26212 SPCS3 signal peptidase complex subunit 3 protein-coding gene gene with protein product Approved 4q34.2 04q34.2 "FLJ22649|SPC22/23|SPC3|YLR066W|PRO3567" signal peptidase complex subunit 3 homolog (S. cerevisiae) 2005-01-05 2015-07-23 2015-09-08 60559 ENSG00000129128 OTTHUMG00000160789 uc003iur.5 AK092634 NM_021928 CCDS54823 P61009 "8632014|24480542" MGI:1923937 RGD:1588184 618854 HGNC:26212 "ENST00000503362.2|NM_021928.4" +HGNC:54818 SPCS3-AS1 SPCS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q34.2 04q34.2 Antisense RNAs 1987 2020-01-17 2020-07-16 116435303 ENSG00000248980 32079618 +HGNC:17257 SPDEF SAM pointed domain containing ETS transcription factor protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "PDEF|bA375E1.3" SAM pointed domain containing ets transcription factor ETS transcription factor family 534 2003-11-27 2013-08-07 2016-10-05 25803 ENSG00000124664 OTTHUMG00000014548 uc003ojq.3 AF071538 NM_012391 "CCDS4794|CCDS59013" O95238 "10625666|6857767" MGI:1353422 RGD:1594842 608144 HGNC:17257 "ENST00000374037.8|NM_012391.3" +HGNC:26010 SPDL1 spindle apparatus coiled-coil protein 1 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "FLJ20364|hSpindly" spindly homolog (Drosophila) CCDC99 coiled-coil domain containing 99 2006-04-03 2012-09-27 2012-09-27 2014-11-18 54908 ENSG00000040275 OTTHUMG00000130438 uc003mae.5 BC012568 NM_017785 CCDS4370 Q96EA4 20427577 MGI:1917635 RGD:1306908 616401 HGNC:26010 "ENST00000265295.9|NM_017785.5" HGNC:26010 +HGNC:30613 SPDYA speedy/RINGO cell cycle regulator family member A protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "SPY1|Ringo3" SPDY1 "speedy homolog 1 (Drosophila)|speedy homolog A (Xenopus laevis)" Speedy/RINGO cell cycle regulator family 756 2004-07-05 2006-03-31 2013-05-08 2016-10-05 245711 ENSG00000163806 OTTHUMG00000074041 uc002rmk.4 AA424209 NM_182756 CCDS1767 Q5MJ70 "11980914|12839962|15611625" MGI:1918141 RGD:621730 614029 HGNC:30613 "ENST00000334056.10|NM_182756.4" +HGNC:32681 SPDYC speedy/RINGO cell cycle regulator family member C protein-coding gene gene with protein product Approved 11q13.1 11q13.1 Ringo2 speedy homolog C (Xenopus laevis) Speedy/RINGO cell cycle regulator family 756 2006-03-31 2013-05-08 2014-11-19 387778 ENSG00000204710 OTTHUMG00000165611 uc010rnz.3 AY820305 NM_001008778 CCDS31606 Q5MJ68 15611625 614030 HGNC:32681 +HGNC:16408 SPDYE1 speedy/RINGO cell cycle regulator family member E1 protein-coding gene gene with protein product Approved 7p13 07p13 "Ringo1|SPDYE" Speedy E WBSCR19 "Williams Beuren syndrome chromosome region 19|speedy homolog E1 (Xenopus laevis)" Speedy/RINGO cell cycle regulator family 756 2001-08-24 2009-02-17 2013-05-08 2016-10-05 285955 ENSG00000136206 OTTHUMG00000128985 uc003tjf.4 AF412027 NM_175064 CCDS5475 Q8NFV5 12073013 "MGI:1921923|MGI:3612701" 617623 HGNC:16408 "ENST00000693451.1|NM_001378423.2" +HGNC:33841 SPDYE2 speedy/RINGO cell cycle regulator family member E2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 MGC119295 speedy homolog E2 (Xenopus laevis) Speedy/RINGO cell cycle regulator family 756 2009-02-17 2013-05-08 2016-04-25 441273 ENSG00000205238 OTTHUMG00000150385 uc011kkx.3 AK302217 NM_001031618 CCDS34716 Q495Y8 "MGI:1921923|MGI:3612701" 617624 HGNC:33841 +HGNC:48334 SPDYE2B speedy/RINGO cell cycle regulator family member E2B protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Speedy/RINGO cell cycle regulator family 756 2013-05-08 2015-09-08 100310812 ENSG00000173678 OTTHUMG00000158393 NM_001166339 CCDS59507 A6NHP3 "MGI:1921923|MGI:3612701" HGNC:48334 "ENST00000507450.6|NM_001166339.2" +HGNC:35462 SPDYE3 speedy/RINGO cell cycle regulator family member E3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 speedy homolog E3 (Xenopus laevis) Speedy/RINGO cell cycle regulator family 756 2009-02-17 2013-05-08 2016-04-25 441272 ENSG00000214300 OTTHUMG00000155462 uc022aij.1 BC056606 NM_001004351 CCDS47658 A6NKU9 "MGI:1921923|MGI:3612701" 617625 HGNC:35462 "ENST00000332397.6|NM_001004351.5" +HGNC:35463 SPDYE4 speedy/RINGO cell cycle regulator family member E4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 speedy homolog E4 (Xenopus laevis) Speedy/RINGO cell cycle regulator family 756 2009-02-17 2013-05-08 2015-09-09 388333 ENSG00000183318 OTTHUMG00000178566 uc010cnz.1 BC146949 NM_001128076 CCDS45609 A6NLX3 "MGI:1921923|MGI:3612701" RGD:1561076 617628 HGNC:35463 "ENST00000689094.1|NM_001394956.1" +HGNC:35464 SPDYE5 speedy/RINGO cell cycle regulator family member E5 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 speedy homolog E5 (Xenopus laevis) Speedy/RINGO cell cycle regulator family 756 2009-02-17 2013-05-08 2016-09-27 442590 ENSG00000170092 OTTHUMG00000156138 uc064emj.1 NM_001099435 CCDS78241 A6NIY4 "MGI:1921923|MGI:3612701" HGNC:35464 "ENST00000625065.4|NM_001306141.4" +HGNC:35465 SPDYE6 speedy/RINGO cell cycle regulator family member E6 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 speedy homolog E6 (Xenopus laevis) Speedy/RINGO cell cycle regulator family 756 2009-02-17 2013-05-08 2015-09-08 729597 ENSG00000260097 OTTHUMG00000157126 uc033abc.2 NM_001146210 CCDS78265 P0CI01 "MGI:1921923|MGI:3612701" PGOHUM00000232945 HGNC:35465 "ENST00000563237.3|NM_001146210.4" +HGNC:35466 SPDYE7P speedy/RINGO cell cycle regulator family member E7, pseudogene pseudogene pseudogene Approved 7q11.23 07q11.23 speedy homolog E7 (Xenopus laevis), pseudogene Speedy/RINGO cell cycle regulator family 756 2009-02-17 2013-05-08 2015-01-20 441251 ENSG00000179994 OTTHUMG00000150526 NR_003666 Q495Y7 "MGI:1921923|MGI:3612701" PGOHUM00000302288 HGNC:35466 +HGNC:33771 SPDYE8 speedy/RINGO cell cycle regulator family member E8 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 SPDYE8P "speedy homolog E8 (Xenopus laevis), pseudogene|speedy/RINGO cell cycle regulator family member E8, pseudogene" Speedy/RINGO cell cycle regulator family 756 2009-02-17 2019-11-12 2019-11-12 2020-05-18 728524 ENSG00000273520 OTTHUMG00000188238 NM_001382525 P0DUD1 PGOHUM00000302292 HGNC:33771 "ENST00000333385.11|NM_001382525.2" +HGNC:45034 SPDYE9 speedy/RINGO cell cycle regulator family member E9 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 SPDYE9P "speedy homolog E9 (Xenopus laevis), pseudogene|speedy/RINGO cell cycle regulator family member E9, pseudogene" Speedy/RINGO cell cycle regulator family 756 2013-01-17 2019-11-12 2019-11-12 2020-06-15 643909 ENSG00000262461 OTTHUMG00000150524 NM_001382554 A0A494C191 PGOHUM00000302294 HGNC:45034 "ENST00000575125.6|NM_001382554.3" +HGNC:51506 SPDYE10 speedy/RINGO cell cycle regulator family member E10 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 SPDYE10P speedy/RINGO cell cycle regulator family member E10, pseudogene Speedy/RINGO cell cycle regulator family 756 2015-01-21 2021-06-17 2021-06-17 2021-06-17 643862 ENSG00000274570 OTTHUMG00000150525 NM_001382504 P0DUX0 PGOHUM00000302295 HGNC:51506 "ENST00000691996.1|NM_001382505.2" +HGNC:51507 SPDYE11 speedy/RINGO cell cycle regulator family member E11 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 Speedy/RINGO cell cycle regulator family 756 2015-01-21 2019-11-12 100996746 ENSG00000286228 OTTHUMG00000188240 NM_001351349 P0DTA3 PGOHUM00000302293 HGNC:51507 "ENST00000340073.9|NM_001351349.3" +HGNC:51508 SPDYE12 speedy/RINGO cell cycle regulator family member E12 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 SPDYE12P speedy/RINGO cell cycle regulator family member E12, pseudogene Speedy/RINGO cell cycle regulator family 756 2015-01-21 2021-06-17 2021-06-17 2021-06-17 100101268 ENSG00000184616 OTTHUMG00000156994 NM_001382555 P0DUX1 PGOHUM00000302302 HGNC:51508 +HGNC:51509 SPDYE13 speedy/RINGO cell cycle regulator family member E13 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 SPDYE13P speedy/RINGO cell cycle regulator family member E13, pseudogene Speedy/RINGO cell cycle regulator family 756 2015-01-22 2019-11-12 2019-11-12 2020-05-18 105180390 ENSG00000286038 OTTHUMG00000182946 NM_001382563 A0A494C0Z2 PGOHUM00000302810 HGNC:51509 "ENST00000652175.2|NM_001382563.2" +HGNC:51510 SPDYE14 speedy/RINGO cell cycle regulator family member E14 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 SPDYE14P speedy/RINGO cell cycle regulator family member E14, pseudogene Speedy/RINGO cell cycle regulator family 756 2015-01-22 2019-11-12 2019-11-12 2020-05-18 641776 ENSG00000286137 OTTHUMG00000182948 NM_001382495 P0DUD3 PGOHUM00000302811 HGNC:51510 +HGNC:51511 SPDYE15 speedy/RINGO cell cycle regulator family member E15 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 SPDYE15P speedy/RINGO cell cycle regulator family member E15, pseudogene Speedy/RINGO cell cycle regulator family 756 2015-01-22 2019-11-12 2019-11-12 2020-06-15 105180391 ENSG00000286014 OTTHUMG00000182950 NM_001382547 P0DUD4 PGOHUM00000302812 HGNC:51511 "ENST00000612377.3|NM_001382547.2" +HGNC:51512 SPDYE16 speedy/RINGO cell cycle regulator family member E16 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 Speedy/RINGO cell cycle regulator family 756 2015-01-21 2020-05-18 102723555 ENSG00000185040 OTTHUMG00000155814 NM_001351597 CCDS87513 A6NNV3 "MGI:1921923|MGI:3612701" HGNC:51512 "ENST00000633306.2|NM_001394943.1" +HGNC:51513 SPDYE17 speedy/RINGO cell cycle regulator family member E17 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 Speedy/RINGO cell cycle regulator family 756 2015-01-21 2020-05-18 102723849 ENSG00000186645 OTTHUMG00000155797 NM_001351351 P0DUD2 PGOHUM00000302323 HGNC:51513 "ENST00000671986.3|NM_001351351.3" +HGNC:51514 SPDYE18 speedy/RINGO cell cycle regulator family member E18 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 Speedy/RINGO cell cycle regulator family 756 2015-01-21 2022-01-06 100505767 ENSG00000205482 OTTHUMG00000155796 NM_001351348 RGD:1561675 PGOHUM00000302324 HGNC:51514 "ENST00000510091.4|NM_001394953.1" +HGNC:51515 SPDYE19P speedy/RINGO cell cycle regulator family member E19, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 Speedy/RINGO cell cycle regulator family 756 2015-01-21 2020-05-18 100130307 ENSG00000275328 OTTHUMG00000187656 NG_022527 PGOHUM00000302028 HGNC:51515 +HGNC:51516 SPDYE20P speedy/RINGO cell cycle regulator family member E20, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 Speedy/RINGO cell cycle regulator family 756 2015-01-21 2015-01-21 101060280 ENSG00000277327 OTTHUMG00000187660 NR_173149 PGOHUM00000302031 HGNC:51516 +HGNC:51517 SPDYE21 speedy/RINGO cell cycle regulator family member E21 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 SPDYE21P speedy/RINGO cell cycle regulator family member E21, pseudogene Speedy/RINGO cell cycle regulator family 756 2015-01-21 2019-11-12 2019-11-12 2020-06-15 442572 ENSG00000230358 OTTHUMG00000156921 NM_001382715 A0A494C086 PGOHUM00000302783 HGNC:51517 "ENST00000424157.4|NM_001382715.2" +HGNC:51518 SPDYE22P speedy/RINGO cell cycle regulator family member E22, pseudogene pseudogene pseudogene Approved 17q22 17q22 Speedy/RINGO cell cycle regulator family 756 2015-01-21 2015-01-21 100420854 ENSG00000266537 OTTHUMG00000179363 NG_026195 PGOHUM00000294162 HGNC:51518 +HGNC:30615 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "HCMOGT-1|FLJ36955|NSP" "sperm antigen HCMOGT 1|cytokinesis and spindle organization B" CYTSB cytospin B 2005-05-25 2010-09-17 2010-09-17 2017-03-10 92521 ENSG00000128487 OTTHUMG00000179808 uc002gwq.4 "AY816329|AB041533" NM_152904 "CCDS42281|CCDS45628|CCDS32590|CCDS42280|CCDS58531" Q5M775 "15602574|18763323|15087372" MGI:2442356 RGD:1309718 608793 HGNC:30615 "ENST00000395527.9|NM_001243439.2" +HGNC:55376 SPECC1-DT SPECC1 divergent transcript non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Divergent transcripts 1990 2020-11-12 2020-11-12 119545627 ENSG00000261033 +HGNC:29022 SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like protein-coding gene gene with protein product Approved 22q11.23 22q11.23 KIAA0376 cytokinesis and spindle organization A CYTSA "SPECC1-like|cytospin A" 2006-10-19 2010-09-17 2016-06-07 2017-03-10 23384 ENSG00000100014 OTTHUMG00000171450 uc002zzv.6 AK025531 NM_015330 "CCDS58797|CCDS33619" Q69YQ0 9205841 MGI:1921642 RGD:1309570 614140 270468 HGNC:29022 "ENST00000314328.14|NM_015330.6" HGNC:29022 +HGNC:49185 SPECC1L-ADORA2A SPECC1L-ADORA2A readthrough (NMD candidate) other readthrough Approved 22q11.23 22q11.23 2013-09-25 2013-09-25 101730217 ENSG00000258555 OTTHUMG00000150762 NR_103546 HGNC:49185 +HGNC:53867 SPECC1P1 SPECC1 pseudogene 1 pseudogene pseudogene Approved 17p12 17p12 2018-05-01 2018-05-01 100418862 ENSG00000227790 OTTHUMG00000059146 NG_026218 HGNC:53867 +HGNC:53868 SPECC1P2 SPECC1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2018-05-01 2018-05-01 112488741 ENSG00000244456 OTTHUMG00000130761 NG_068479 +HGNC:15874 SPEF1 sperm flagellar 1 protein-coding gene gene with protein product Approved 20p13 20p13 "DKFZP434I114|SPEF1A|CLAMP" CaLponin-homology And Microtubule-associated Protein C20orf28 chromosome 20 open reading frame 28 2001-06-21 2007-08-20 2007-08-20 2016-07-13 25876 ENSG00000101222 OTTHUMG00000031756 uc002wjj.4 AL080154 NM_015417 CCDS13063 Q9Y4P9 "15979255|25070955" MGI:3513546 RGD:1311267 610674 HGNC:15874 "ENST00000379756.3|NM_015417.5" +HGNC:26293 SPEF2 sperm flagellar 2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 "KPL2|FLJ23577|CT122" cancer/testis antigen 122 2007-08-20 2014-11-19 79925 ENSG00000152582 OTTHUMG00000131111 uc003jjo.4 AB051557 NM_144722 "CCDS43309|CCDS3910" Q9C093 "11214970|16549801|17610085" MGI:2443727 RGD:620450 610172 HGNC:26293 "ENST00000356031.8|NM_024867.4" HGNC:26293 +HGNC:16901 SPEG striated muscle enriched protein kinase protein-coding gene gene with protein product Approved 2q35 02q35 "MGC12676|KIAA1297|SPEGalpha|SPEGbeta|BPEG|MYLK6" striated muscle preferentially expressed protein kinase APEG1 "aortic preferentially expressed gene 1|SPEG complex locus" "I-set domain containing|Myosin light chain kinase family" "593|1668" 2005-03-17 2006-04-27 2018-10-18 2021-05-26 10290 ENSG00000072195 OTTHUMG00000058925 uc010fwg.4 BC006346 NM_005876 "CCDS42824|CCDS54432" Q15772 "8663449|10973969|27729468" MGI:109282 RGD:2124 615950 410675 objectId:2203 HGNC:16901 "ENST00000312358.12|NM_005876.5" HGNC:16901 +HGNC:51251 SPEGNB SPEG neighbor protein-coding gene gene with protein product Approved 2q35 02q35 2018-10-18 2019-08-21 100996693 ENSG00000286095 OTTHUMG00000058925 NM_001286811 A0A087WV53 HGNC:51251 "ENST00000651166.2|NM_001286811.2" +HGNC:32429 SPEM1 spermatid maturation 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ40081 C17orf83 chromosome 17 open reading frame 83 2006-04-25 2008-02-04 2008-02-04 2014-11-19 374768 ENSG00000181323 OTTHUMG00000178189 uc002ggv.3 AK097400 NM_199339 CCDS42254 Q8N4L4 "17426145|20558241|21184802" MGI:1921538 RGD:1593311 615116 HGNC:32429 "ENST00000323675.4|NM_199339.3" +HGNC:27315 SPEM2 SPEM family member 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 C17orf74 chromosome 17 open reading frame 74 2006-01-12 2017-07-27 2017-07-27 2017-08-16 201243 ENSG00000184560 OTTHUMG00000178190 uc002ggw.4 BC044816 NM_175734 CCDS42255 Q0P670 12477932 MGI:1918293 RGD:1565061 HGNC:27315 "ENST00000333870.8|NM_175734.5" +HGNC:53651 SPEM3 SPEM family member 3 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 2017-08-16 2017-08-16 107983988 ENSG00000283439 OTTHUMG00000191681 NM_001364672 A0A1B0GUW6 MGI:5622451 HGNC:53651 "ENST00000636696.4|NM_001364708.1" +HGNC:17575 SPEN spen family transcriptional repressor protein-coding gene gene with protein product Approved 1p36.21-p36.13 01p36.21-p36.13 "KIAA0929|MINT|SHARP|RBM15C" "SPEN homolog, transcriptional regulator (Drosophila)|spen homolog, transcriptional regulator (Drosophila)" RNA binding motif containing 725 2004-12-13 2013-10-17 2018-02-13 23013 ENSG00000065526 OTTHUMG00000009376 uc001axk.2 NM_015001 CCDS164 Q96T58 "10451362|11331609" MGI:1891706 RGD:1589867 SPEN 613484 HGNC:17575 "ENST00000375759.8|NM_015001.3" +HGNC:55937 SPEN-AS1 SPEN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 FLJ37453 Antisense RNAs 1987 2021-11-10 2021-11-10 729614 ENSG00000179743 NR_024279 +HGNC:15570 SPESP1 sperm equatorial segment protein 1 protein-coding gene gene with protein product Approved 15q23 15q23 SP-ESP 2001-04-24 2020-04-01 246777 ENSG00000258484 OTTHUMG00000133321 uc002arn.2 AF275321 NM_145658 CCDS10230 Q6UW49 12773409 MGI:1913962 RGD:1563468 609399 HGNC:15570 "ENST00000310673.4|NM_145658.4" +HGNC:11237 SPG7 SPG7 matrix AAA peptidase subunit, paraplegin protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "CAR|SPG5C" paraplegin CMAR "cell matrix adhesion regulator|spastic paraplegia 7 (pure and complicated autosomal recessive)" AAA ATPases 413 1998-06-25 2019-01-28 2019-01-28 6687 ENSG00000197912 OTTHUMG00000138046 uc002fnj.4 Y16610 NM_003119 "CCDS10978|CCDS10977" Q9UQ90 "9635427|9634528" MGI:2385906 RGD:727940 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 602783 119829 M41.006 HGNC:11237 "ENST00000645818.2|NM_003119.4" HGNC:11237 +HGNC:11226 SPG11 SPG11 vesicle trafficking associated, spatacsin protein-coding gene gene with protein product Approved 15q21.1 15q21.1 FLJ21439 spatacsin "KIAA1840|ALS5" "KIAA1840|spastic paraplegia 11 (autosomal recessive)|amyotrophic lateral sclerosis 5" 1999-10-08 2019-01-28 2019-07-09 80208 ENSG00000104133 OTTHUMG00000131199 uc001ztx.4 NM_001160227 "CCDS53939|CCDS10112" Q96JI7 "10408536|17322883|26556829" MGI:2444989 RGD:1562529 610844 119807 HGNC:11226 "ENST00000261866.12|NM_025137.4" HGNC:11226 +HGNC:20373 SPG21 SPG21 abhydrolase domain containing, maspardin protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "ACP33|GL010|BM-019|MAST|ABHD21" "spastic paraplegia 21 (autosomal recessive, Mast syndrome)|SPG21, maspardin" Abhydrolase domain containing 4 2004-04-30 2019-01-28 2019-01-28 51324 ENSG00000090487 OTTHUMG00000133098 uc002aoe.5 AF208861 NM_016630 "CCDS10198|CCDS45279" Q9NZD8 "11113139|14564668" MGI:106403 RGD:1359141 608181 119815 HGNC:20373 "ENST00000204566.7|NM_016630.7" HGNC:20373 +HGNC:11240 SPHK1 sphingosine kinase 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 SPHK 1999-02-01 2019-08-21 8877 ENSG00000176170 OTTHUMG00000180177 uc002jrj.3 BC030553 "NM_182965|NM_021972" "CCDS59297|CCDS45785|CCDS11744" Q9NYA1 9726979 MGI:1316649 RGD:620048 603730 objectId:2204 HGNC:11240 "ENST00000592299.6|NM_001142601.2" +HGNC:18859 SPHK2 sphingosine kinase 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 2002-07-05 2018-03-13 56848 ENSG00000063176 OTTHUMG00000183318 uc002pjr.4 AF245447 NM_001204158 "CCDS74414|CCDS12727|CCDS59404|CCDS59405" Q9NRA0 "10751414|17895250|19168031" MGI:1861380 RGD:1307757 607092 objectId:2205 HGNC:18859 "ENST00000245222.9|NM_020126.5" +HGNC:30619 SPHKAP SPHK1 interactor, AKAP domain containing protein-coding gene gene with protein product Approved 2q36.3 02q36.3 SKIP sphingosine kinase type 1-interacting protein A-kinase anchoring proteins 396 2007-12-06 2014-11-19 80309 ENSG00000153820 OTTHUMG00000153584 uc002vpp.3 NM_030623 "CCDS33389|CCDS46537" Q2M3C7 "12080051|11214970" MGI:1924879 RGD:1311951 611646 HGNC:30619 "ENST00000392056.8|NM_001142644.2" +HGNC:11241 SPI1 Spi-1 proto-oncogene protein-coding gene gene with protein product Approved 11p11.2 11p11.2 "PU.1|SPI-A|OF|SFPI1|SPI-1" "hematopoietic transcription factor PU.1|31 kDa transforming protein" spleen focus forming virus (SFFV) proviral integration oncogene ETS transcription factor family 534 1988-07-04 2014-06-25 2016-10-05 6688 ENSG00000066336 OTTHUMG00000150150 uc001nfc.2 X52056 NM_003120 "CCDS44591|CCDS7933" P17947 1693183 MGI:98282 RGD:1359607 165170 HGNC:11241 "ENST00000378538.8|NM_003120.3" +HGNC:11242 SPIB Spi-B transcription factor protein-coding gene gene with protein product Approved 19q13.33 19q13.33 SPI-B Spi-B transcription factor (Spi-1/PU.1 related) ETS transcription factor family 534 1994-12-15 2016-03-11 2016-03-11 6689 ENSG00000269404 OTTHUMG00000183039 uc002psd.4 NM_003121 "CCDS59412|CCDS33080|CCDS58674" Q01892 1406622 MGI:892986 RGD:1565899 606802 239862 HGNC:11242 "ENST00000595883.6|NM_003121.5" +HGNC:29549 SPIC Spi-C transcription factor protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "MGC40611|SPI-C" Spi-C transcription factor (Spi-1/PU.1 related) ETS transcription factor family 534 2004-03-18 2016-03-11 2021-08-12 121599 ENSG00000166211 OTTHUMG00000170273 uc001tid.3 AF518404 NM_152323 CCDS9082 Q8N5J4 12459275 MGI:1341168 RGD:1306272 612568 HGNC:29549 "ENST00000551346.2|NM_152323.3" +HGNC:25083 SPICE1 spindle and centriole associated protein 1 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 SPICE spindle and centriole protein CCDC52 coiled-coil domain containing 52 2006-01-02 2010-09-01 2010-09-01 2014-11-19 152185 ENSG00000163611 OTTHUMG00000159261 uc003eag.5 AY099107 NM_144718 CCDS2973 Q8N0Z3 20736305 MGI:1196252 RGD:1310729 613447 HGNC:25083 "ENST00000295872.8|NM_144718.4" +HGNC:28971 SPIDR scaffold protein involved in DNA repair protein-coding gene gene with protein product Approved 8q11.21 08q11.21 KIAA0146 "KIAA0146|scaffolding protein involved in DNA repair" 2005-09-01 2013-07-02 2018-03-01 2018-03-01 23514 ENSG00000164808 OTTHUMG00000164176 AK055680 NM_001080394 "CCDS64891|CCDS64890|CCDS43737|CCDS87607" Q14159 "8590280|23509288" MGI:1924834 RGD:1566036 615384 HGNC:28971 "ENST00000297423.9|NM_001080394.4" HGNC:28971 +HGNC:11243 SPIN1 spindlin 1 protein-coding gene gene with protein product Approved 9q22.1 09q22.1 TDRD24 SPIN spindlin "Tudor domain containing|Spindlin family" "780|1089" 1999-08-06 2007-01-03 2007-01-03 2015-08-11 10927 ENSG00000106723 OTTHUMG00000020168 uc004apy.4 AF317228 NM_006717 CCDS43843 Q9Y657 16098913 MGI:109242 RGD:1306210 609936 HGNC:11243 "ENST00000375859.4|NM_006717.3" +HGNC:20694 SPIN2A spindlin family member 2A protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "DXF34|TDRD25" SPIN2 "spindlin family, member 2|spindlin family, member 2A" "Tudor domain containing|Spindlin family" "780|1089" 2004-01-26 2006-12-05 2015-11-18 2020-04-02 54466 ENSG00000147059 OTTHUMG00000022705 uc064zow.1 Y09858 NM_019003 CCDS35312 Q99865 9271673 "MGI:1922101|MGI:3605548|MGI:3647272" RGD:1560898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SPIN2A 300621 HGNC:20694 "ENST00000374906.4|NM_019003.5" +HGNC:33147 SPIN2B spindlin family member 2B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "SPIN-2|TDRD26" spindlin family, member 2B "Tudor domain containing|Spindlin family" "780|1089" 2006-12-05 2015-11-18 2016-10-05 474343 ENSG00000186787 OTTHUMG00000021680 uc004duz.5 AF356353 NM_001006681 "CCDS65274|CCDS35311" Q9BPZ2 12145692 "MGI:1922101|MGI:3605548|MGI:3647272" RGD:6503238 300517 HGNC:33147 "ENST00000434397.3|NM_001006681.2" +HGNC:54967 SPIN2P1 SPIN2 family pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 2020-05-13 2020-05-13 100129997 ENSG00000237708 NG_022603 +HGNC:27272 SPIN3 spindlin family member 3 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 TDRD27 spindlin family, member 3 "Tudor domain containing|Spindlin family" "780|1089" 2004-08-16 2015-11-18 2018-11-19 169981 ENSG00000204271 OTTHUMG00000021677 uc004dux.2 AL832091 NM_001010862 CCDS43963 Q5JUX0 HGNC:27272 "ENST00000374919.6|NM_001010862.3" +HGNC:27040 SPIN4 spindlin family member 4 protein-coding gene gene with protein product Approved Xq11.1 Xq11.1 "FLJ44984|TDRD28" spindlin family, member 4 "Tudor domain containing|Spindlin family" "780|1089" 2007-07-24 2015-11-18 2022-01-10 139886 ENSG00000186767 OTTHUMG00000021696 uc004dvf.3 AK126931 NM_001012968 CCDS43964 Q56A73 33636084 MGI:2444925 RGD:1564004 HGNC:27040 "ENST00000374884.3|NM_001012968.3" +HGNC:41177 SPIN4-AS1 SPIN4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq11.1 Xq11.1 SPIN4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-10 2012-08-15 2014-11-19 100874033 ENSG00000233661 OTTHUMG00000021697 uc064zpd.1 NR_046739 SPIN4-AS1 +HGNC:25115 SPINDOC spindlin interactor and repressor of chromatin binding protein-coding gene gene with protein product Approved 11q13.1 11q13.1 SPIN-DOC C11orf84 chromosome 11 open reading frame 84 2008-07-18 2018-01-09 2018-01-09 2018-01-16 144097 ENSG00000168005 OTTHUMG00000167746 uc001nxt.4 BC007540 NM_138471 CCDS31594 Q9BUA3 29061846 MGI:2147611 RGD:1308106 HGNC:25115 "ENST00000294244.9|NM_138471.3" +HGNC:11244 SPINK1 serine peptidase inhibitor Kazal type 1 protein-coding gene gene with protein product Approved 5q32 05q32 "Spink3|PCTT|PSTI|TATI" serine protease inhibitor, Kazal type 1 Serine peptidase inhibitors, Kazal type 740 1988-06-27 2019-10-01 2021-05-26 6690 ENSG00000164266 OTTHUMG00000129730 uc003los.3 NM_003122 CCDS4286 P00995 MGI:106202 RGD:3749 167790 119834 I01.011 HGNC:11244 "ENST00000296695.10|NM_001379610.1" HGNC:11244 +HGNC:11245 SPINK2 serine peptidase inhibitor Kazal type 2 protein-coding gene gene with protein product Approved 4q12 04q12 HUSI-II acrosin-trypsin inhibitor serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) Serine peptidase inhibitors, Kazal type 740 1993-12-01 2019-10-01 2020-05-15 6691 ENSG00000128040 OTTHUMG00000128769 uc003hcg.3 BC022514 NM_021114 "CCDS63972|CCDS75128|CCDS3508|CCDS63971" P20155 8428671 MGI:1917232 RGD:1302956 605753 I01.012 HGNC:11245 "ENST00000506738.6|NM_001271718.2" +HGNC:16646 SPINK4 serine peptidase inhibitor Kazal type 4 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "PEC-60|MGC133107" serine protease inhibitor, Kazal type 4 Serine peptidase inhibitors, Kazal type 740 2001-09-21 2019-10-01 2019-10-01 27290 ENSG00000122711 OTTHUMG00000019762 uc003zsh.4 AF048700 NM_014471 CCDS6536 O60575 "1400298|17333166" MGI:1341848 RGD:1303188 613929 I01.970 HGNC:16646 "ENST00000379721.4|NM_014471.3" +HGNC:15464 SPINK5 serine peptidase inhibitor Kazal type 5 protein-coding gene gene with protein product Approved 5q32 05q32 "VAKTI|LEKTI|LETKI|NETS|NS|FLJ21544|FLJ97536|FLJ97596|FLJ99794|DKFZp686K19184" lymphoepithelial Kazal-type-related inhibitor serine protease inhibitor, Kazal type 5 Serine peptidase inhibitors, Kazal type 740 2001-03-30 2019-10-01 2021-05-26 11005 ENSG00000133710 OTTHUMG00000134305 uc003lox.3 AJ228139 NM_001127698 "CCDS47301|CCDS43382|CCDS47300" Q9NQ38 10419450 MGI:1919682 RGD:1306540 "SPINK5base: Mutation registry for Netherton syndrome|http://structure.bmc.lu.se/idbase/SPINK5base/|LRG_110|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_110.xml" 605010 119840 LI01-004 HGNC:15464 "ENST00000256084.8|NM_006846.4" HGNC:15464 +HGNC:29486 SPINK6 serine peptidase inhibitor Kazal type 6 protein-coding gene gene with protein product Approved 5q32 05q32 "MGC21394|UNQ844|BUSI2" protease inhibitor H serine protease inhibitor, Kazal type 6 Serine peptidase inhibitors, Kazal type 740 2004-11-30 2019-10-01 2019-10-01 404203 ENSG00000178172 OTTHUMG00000163425 uc021yff.2 AY358716 NM_205841 CCDS34268 Q6UWN8 15060002 MGI:3648654 RGD:1303338 615868 I01.015 HGNC:29486 "ENST00000325630.3|NM_205841.4" +HGNC:24643 SPINK7 serine peptidase inhibitor Kazal type 7 protein-coding gene gene with protein product Approved 5q32 05q32 "ECG2|ECRG2" esophagus cancer related gene 2 serine peptidase inhibitor Kazal type 7 (putative) Serine peptidase inhibitors, Kazal type 740 2006-02-20 2019-10-01 2019-10-01 84651 ENSG00000145879 OTTHUMG00000163522 uc003lpd.4 NM_032566 CCDS4289 P58062 "12646258|12970870|29875205" MGI:3644691 RGD:1303077 617288 I01.057 HGNC:24643 "ENST00000274565.5|NM_032566.3" +HGNC:33160 SPINK8 serine peptidase inhibitor Kazal type 8 (putative) protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "Serine peptidase inhibitors, Kazal type|MicroRNA protein coding host genes" "740|1691" 2006-10-27 2019-10-01 2019-10-01 646424 ENSG00000229453 OTTHUMG00000156832 uc003csq.2 NM_001080525 CCDS46822 P0C7L1 16930550 MGI:1925959 RGD:1307150 HGNC:33160 "ENST00000434006.3|NM_001080525.3" +HGNC:32951 SPINK9 serine peptidase inhibitor Kazal type 9 protein-coding gene gene with protein product Approved 5q32 05q32 Serine peptidase inhibitors, Kazal type 740 2006-11-06 2019-10-01 2019-10-01 643394 ENSG00000204909 OTTHUMG00000163431 uc003lpe.1 AY396740 NM_001040433 CCDS34269 Q5DT21 RGD:1596746 613511 I01.054 HGNC:32951 "ENST00000377906.2|NM_001040433.2" +HGNC:27200 SPINK13 serine peptidase inhibitor Kazal type 13 protein-coding gene gene with protein product Approved 5q32 05q32 "SPINK5L3|LiESP6|HESPINTOR|MGC149260" serine peptidase inhibitor Kazal type 13 (putative) Serine peptidase inhibitors, Kazal type 740 2010-03-31 2019-10-01 2019-10-01 153218 ENSG00000214510 OTTHUMG00000163426 uc003lpc.4 NM_001040129.2 CCDS43383 Q1W4C9 "23430248|30862605" MGI:3642511 RGD:1591057 615205 I01.060 HGNC:27200 "ENST00000398450.5|NM_001040129.3" +HGNC:33825 SPINK14 serine peptidase inhibitor Kazal type 14 (putative) protein-coding gene gene with protein product Approved 5q32 05q32 SPINK5L2 Serine peptidase inhibitors, Kazal type 740 2010-03-31 2019-10-01 2019-10-01 408187 ENSG00000196800 OTTHUMG00000129732 uc031sls.2 NM_001001325 CCDS4288 Q6IE38 MGI:3646952 RGD:1303288 I01.975 HGNC:33825 "ENST00000356972.2|NM_001001325.2" +HGNC:11246 SPINT1 serine peptidase inhibitor, Kunitz type 1 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "HAI|HAI-1|MANSC2" serine protease inhibitor, Kunitz type 1 1988-07-18 2005-08-17 2021-12-08 6692 ENSG00000166145 OTTHUMG00000130068 uc001zna.4 NM_003710 "CCDS10067|CCDS45231" O43278 MGI:1338033 RGD:1303138 605123 ligandId:5315 HGNC:11246 "ENST00000562057.6|NM_003710.4" +HGNC:53162 SPINT1-AS1 SPINT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 RP11-532F12.5 Antisense RNAs 1987 2017-03-03 2020-11-11 102724362 ENSG00000261183 OTTHUMG00000172899 NR_146466 28225791 HGNC:53162 +HGNC:11247 SPINT2 serine peptidase inhibitor, Kunitz type 2 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "Kop|HAI-2|HAI2" "placental bikunin|hepatocyte growth factor activator inhibitor-2|HGF activator inhibitor 2|Kunitz domain containing protein overexpressed in pancreatic cancer" serine protease inhibitor, Kunitz type, 2 1999-07-23 2016-06-24 2022-01-19 10653 ENSG00000167642 OTTHUMG00000181891 uc002ohr.2 U78095 NM_001166103 "CCDS54261|CCDS12510" O43291 "9115294|9346890" MGI:1338031 RGD:735123 605124 178801 LI02-005 HGNC:11247 "ENST00000301244.12|NM_021102.4" HGNC:11247 +HGNC:11248 SPINT3 serine peptidase inhibitor, Kunitz type 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 HKIB9 serine protease inhibitor, Kunitz type, 3 1999-07-23 2016-06-24 2016-06-24 10816 ENSG00000101446 OTTHUMG00000032585 uc010ghg.1 X77166 NM_006652 CCDS46608 P49223 21988899 MGI:3651470 RGD:1597746 613941 HGNC:11248 "ENST00000217428.7|NM_006652.2" +HGNC:16130 SPINT4 serine peptidase inhibitor, Kunitz type 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ601O1.1 C20orf137 C20orf137 2001-07-17 2005-10-25 2005-10-18 2020-04-20 391253 ENSG00000149651 OTTHUMG00000130153 uc002xpe.2 AY372174 NM_178455 CCDS33477 Q6UDR6 21988899 MGI:1925489 RGD:2319289 619430 I02.975 HGNC:16130 "ENST00000279058.4|NM_178455.3" +HGNC:16161 SPINT5P serine peptidase inhibitor, Kunitz type 5, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 dJ447F3.6 C20orf168 chromosome 20 open reading frame 168 2001-07-17 2012-08-22 2012-08-22 2014-03-12 140863 ENSG00000168630 OTTHUMG00000032611 AL050348 NG_033275 21988899 MGI:3651687 PGOHUM00000261993 HGNC:16161 +HGNC:30622 SPIRE1 spire type actin nucleation factor 1 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "spir-1|KIAA1135" "spire homolog 1 (Drosophila)|spire family actin nucleation factor 1|spire-type actin nucleation factor 1" 2004-04-28 2016-02-01 2018-11-19 56907 ENSG00000134278 OTTHUMG00000153940 uc010wzy.3 AL833817 NM_001128626 "CCDS45829|CCDS32790|CCDS45830" Q08AE8 "10574461|11747823" MGI:1915416 RGD:1305892 609216 HGNC:30622 "ENST00000409402.9|NM_001128626.2" +HGNC:30623 SPIRE2 spire type actin nucleation factor 2 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "spir-2|KIAA1832" "spire homolog 2 (Drosophila)|spire family actin nucleation factor 2|spire-type actin nucleation factor 2" 2004-04-28 2016-02-01 2020-04-01 84501 ENSG00000204991 OTTHUMG00000173039 uc002foz.2 AL834408 NM_032451 CCDS32516 Q8WWL2 11347906 MGI:2446256 RGD:1305837 609217 HGNC:30623 "ENST00000378247.8|NM_032451.2" +HGNC:11249 SPN sialophorin protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "LSN|CD43|GPL115|LEU-22" leukosialin sialophorin (gpL115, leukosialin, CD43) CD molecules 471 1988-08-31 2008-07-31 2022-02-11 6693 ENSG00000197471 OTTHUMG00000097765 uc002dtn.5 J04536 NM_001030288 CCDS10650 P16150 "2784859|2521952" MGI:98384 RGD:3750 182160 CD43 HGNC:11249 "ENST00000652691.1|NM_003123.6" +HGNC:30621 SPNS1 sphingolipid transporter 1 (putative) protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "HSpin1|nrs|SPINL|PP2030|SPIN1|LAT|SLC63A1" spinster homolog 1 (Drosophila) Solute carriers 752 2007-04-12 2016-05-27 2020-10-07 83985 ENSG00000169682 OTTHUMG00000131762 uc002dsa.3 BC006156 NM_032038 "CCDS45454|CCDS10646|CCDS45452|CCDS45453" Q9H2V7 "11340170|12815463" MGI:1920908 RGD:1305613 612583 objectId:3047 HGNC:30621 "ENST00000311008.16|NM_032038.3" +HGNC:26992 SPNS2 sphingolipid transporter 2 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 SLC63A2 spinster homolog 2 (Drosophila) Solute carriers 752 2007-04-12 2016-05-27 2020-10-07 124976 ENSG00000183018 OTTHUMG00000177739 uc002fxx.3 BC041772 NM_001124758 CCDS42237 Q8IVW8 "12815463|26324848" MGI:2384936 RGD:2303312 612584 objectId:3048 HGNC:26992 "ENST00000329078.8|NM_001124758.3" HGNC:26992 +HGNC:55787 SPNS2-AS1 SPNS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Antisense RNAs 1987 2021-07-28 2021-07-28 107985053 ENSG00000229782 XR_001752762 +HGNC:28433 SPNS3 sphingolipid transporter 3 (putative) protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "MGC29671|SLC63A3" spinster homolog 3 (Drosophila) Solute carriers 752 2007-04-12 2016-05-27 2020-10-07 201305 ENSG00000182557 OTTHUMG00000177737 uc002fxt.4 NM_182538 CCDS11045 Q6ZMD2 17714910 MGI:1924827 RGD:1561884 611701 objectId:3049 HGNC:28433 "ENST00000355530.7|NM_182538.5" +HGNC:11250 SPO11 SPO11 initiator of meiotic double stranded breaks protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "CT35|SPATA43|TOPVIA|TOPOVIA" "cancer/testis antigen 35|spermatogenesis associated 43" "SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like|SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)|SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)|SPO11 meiotic protein covalently bound to DSB" 1999-12-02 2019-01-22 2020-09-22 23626 ENSG00000054796 OTTHUMG00000032817 uc002xye.4 AF169385 NM_012444 "CCDS13457|CCDS13456" Q9Y5K1 "10534401|26995551" MGI:1349669 RGD:1306454 605114 HGNC:11250 "ENST00000371263.8|NM_012444.3" +HGNC:26338 SPOCD1 SPOC domain containing 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "FLJ25348|PPP1R146" protein phosphatase 1, regulatory subunit 146 Protein phosphatase 1 regulatory subunits 694 2004-08-27 2019-03-19 90853 ENSG00000134668 OTTHUMG00000003879 uc001bts.3 AK058077 NM_144569 "CCDS347|CCDS60066|CCDS72748" Q6ZMY3 29257309 MGI:3652045 RGD:1560989 619038 HGNC:26338 "ENST00000360482.7|NM_144569.7" +HGNC:11251 SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 testican-1 "TIC1|SPOCK" "sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)|SPARC/osteonectin, cwcv and kazal like domains proteoglycan 1" SPARC family 1278 1995-10-02 2005-11-04 2018-02-23 2018-02-23 6695 ENSG00000152377 OTTHUMG00000129157 uc003lbp.4 AF231124 NM_004598 CCDS4191 Q08629 9545645 MGI:105371 RGD:1311496 602264 471142 I31.006 HGNC:11251 "ENST00000394945.6|NM_004598.4" +HGNC:13564 SPOCK2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "KIAA0275|testican-2" "sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2|SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2" SPARC family 1278 2003-01-24 2018-02-23 2018-02-23 9806 ENSG00000107742 OTTHUMG00000018430 uc001jsp.4 AJ001453 NM_001134434 "CCDS7313|CCDS44431" Q92563 10386950 MGI:1891351 RGD:1308568 607988 I31.954 HGNC:13564 "ENST00000373109.7|NM_001244950.2" +HGNC:13565 SPOCK3 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 testican-3 "sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3|SPARC/osteonectin, cwcv and kazal like domains proteoglycan 3" SPARC family 1278 2003-01-24 2018-02-23 2018-02-23 50859 ENSG00000196104 OTTHUMG00000161190 uc063auj.1 AJ001454 NM_001040159 "CCDS34095|CCDS56346|CCDS56344|CCDS54817|CCDS58931|CCDS56343|CCDS75207|CCDS56347" Q9BQ16 11751414 MGI:1920152 RGD:1305672 607989 I31.007 HGNC:13565 "ENST00000357545.9|NM_001040159.2" +HGNC:11252 SPON1 spondin 1 protein-coding gene gene with protein product Approved 11p15.2 11p15.2 "KIAA0762|f-spondin" spondin 1, (f-spondin) extracellular matrix protein 1999-06-18 2016-01-12 2016-01-12 10418 ENSG00000262655 OTTHUMG00000181576 uc031xfv.2 AB018305 NM_145584 CCDS73262 Q9HCB6 9872452 MGI:2385287 RGD:619918 604989 HGNC:11252 "ENST00000576479.4|NM_006108.4" +HGNC:53117 SPON1-AS1 SPON1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.2 11p15.2 "RP11-21|L19.1" Antisense RNAs 1987 2017-02-10 2017-02-10 109729138 ENSG00000254418 OTTHUMG00000165755 28103885 +HGNC:11253 SPON2 spondin 2 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 DIL1 "Mindin|M-spondin" spondin 2, extracellular matrix protein 1999-06-18 2016-01-12 2016-01-12 10417 ENSG00000159674 OTTHUMG00000089002 uc021xkj.2 AB027466 NM_001128325 CCDS3347 Q9BUD6 "10512675|15094111" MGI:1923724 RGD:708584 605918 HGNC:11253 "ENST00000290902.10|NM_012445.4" +HGNC:11254 SPOP speckle type BTB/POZ protein protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "TEF2|BTBD32" speckle-type POZ protein BTB domain containing 861 1998-09-07 2016-02-10 2021-04-13 8405 ENSG00000121067 OTTHUMG00000161496 uc002ipf.4 AJ000644 NM_003563 CCDS11551 O43791 9414087 MGI:1343085 RGD:1311613 LRG_1412|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1412.xml SPOP 602650 HGNC:11254 "ENST00000504102.6|NM_001007228.2" HGNC:11254 +HGNC:27934 SPOPL speckle type BTB/POZ protein like protein-coding gene gene with protein product Approved 2q22.1 02q22.1 BTBD33 "HIB homolog 2|roadkill homolog 2" speckle-type POZ protein-like BTB domain containing 861 2007-10-25 2016-02-10 2016-02-10 339745 ENSG00000144228 OTTHUMG00000153635 uc002tvh.5 NM_001001664 CCDS33298 Q6IQ16 22632832 MGI:1924107 RGD:1305847 HGNC:27934 "ENST00000280098.9|NM_001001664.3" +HGNC:55802 SPOPL-DT SPOPL divergent transcript non-coding RNA RNA, long non-coding Approved 2q22.1 02q22.1 Divergent transcripts 1990 2021-07-29 2021-07-29 105373637 ENSG00000228043 XR_923368 +HGNC:26933 SPOUT1 SPOUT domain containing methyltransferase 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "HSPC109|CENP-32" centromere protein 32 C9orf114 chromosome 9 open reading frame 114 SPOUT methyltransferase domain containing 1294 2004-03-25 2016-06-30 2016-06-30 2016-06-30 51490 ENSG00000198917 OTTHUMG00000020762 uc004bwd.3 NM_016390 CCDS6913 Q5T280 "20813266|25657325" MGI:106544 RGD:1563514 617614 2.1.1.- HGNC:26933 "ENST00000361256.10|NM_016390.4" +HGNC:11255 SPP1 secreted phosphoprotein 1 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "BSPI|ETA-1" early T-lymphocyte activation 1 "BNSP|OPN" "osteopontin|bone sialoprotein I" "Receptor ligands|SIBLING family" "542|1279" 1989-03-06 2008-07-31 2015-08-26 6696 ENSG00000118785 OTTHUMG00000130599 uc003hrc.4 NM_000582 "CCDS34027|CCDS43250|CCDS3626" P10451 1575754 MGI:98389 RGD:3752 166490 369311 ligandId:6753 HGNC:11255 "ENST00000395080.8|NM_001040058.2" +HGNC:11256 SPP2 secreted phosphoprotein 2 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 SPP24 "secreted phosphoprotein 2, 24kD|secreted phosphoprotein 2, 24kDa" 1996-08-21 2015-11-09 2015-11-09 6694 ENSG00000072080 OTTHUMG00000059208 uc061twv.1 NM_006944 CCDS2511 Q13103 9533032 MGI:1922646 RGD:708488 602637 HGNC:11256 "ENST00000168148.8|NM_006944.3" HGNC:11256 +HGNC:30227 SPPL2A signal peptide peptidase like 2A protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "IMP3|PSL2" "intramembrane protease 3|presenilin-like protein 2" Peptidase family A22 2099 2012-02-21 2014-11-19 84888 ENSG00000138600 OTTHUMG00000131647 uc001zyv.4 NM_032802 CCDS10138 Q8TCT8 "12077416|12139484" MGI:1913802 RGD:1563001 608238 471144 HGNC:30227 "ENST00000261854.10|NM_032802.4" +HGNC:30627 SPPL2B signal peptide peptidase like 2B protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "IMP4|PSL1|KIAA1532" intramembrane protease 4 Peptidase family A22 2099 2012-02-21 2012-02-21 56928 ENSG00000005206 OTTHUMG00000180443 uc032hjo.2 NM_020172 "CCDS74252|CCDS74253" Q8TCT7 10819331 MGI:1920468 RGD:1308556 608239 HGNC:30627 "ENST00000613503.5|NM_152988.3" +HGNC:28902 SPPL2C signal peptide peptidase like 2C protein-coding gene gene with protein product Approved 17q21.31 17q21.31 IMP5 intramembrane protease 5 Peptidase family A22 2099 2012-02-21 2014-11-19 162540 ENSG00000185294 OTTHUMG00000178247 uc010wka.3 NM_175882 CCDS32673 Q8IUH8 12139484 MGI:3045264 RGD:1560562 608284 HGNC:28902 "ENST00000329196.7|NM_175882.3" +HGNC:30424 SPPL3 signal peptide peptidase like 3 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "IMP2|PSL4|MGC90402|MGC126674|MGC126676|DKFZP586C1324" "intramembrane protease 2|presenilin-like protein 4" Peptidase family A22 2099 2012-02-21 2014-11-19 121665 ENSG00000157837 OTTHUMG00000169232 uc001tzd.4 NM_139015 CCDS9208 Q8TCT6 12139484 MGI:1891433 RGD:1562826 608240 HGNC:30424 "ENST00000353487.7|NM_139015.5" +HGNC:11257 SPR sepiapterin reductase protein-coding gene gene with protein product Approved 2p13.2 02p13.2 SDR38C1 "short chain dehydrogenase/reductase family 38C, member 1|Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)" sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) Short chain dehydrogenase/reductase superfamily 743 1991-12-05 2017-08-04 2017-08-04 6697 ENSG00000116096 OTTHUMG00000129777 uc002sik.3 NM_003124 CCDS1920 P35270 "1883349|19027726" MGI:103078 RGD:3753 BIOMBD|http://www.biopku.org/home/biomdb.asp 182125 119844 objectId:3020 1.1.1.153 HGNC:11257 "ENST00000234454.6|NM_003124.5" HGNC:11257 +HGNC:20249 SPRED1 sprouty related EVH1 domain containing 1 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ33903|PPP1R147" protein phosphatase 1, regulatory subunit 147 Protein phosphatase 1 regulatory subunits 694 2003-01-24 2016-04-28 2021-05-26 161742 ENSG00000166068 OTTHUMG00000172377 uc001zka.5 AK091222 NM_152594 CCDS32193 Q7Z699 MGI:2150016 RGD:1308735 609291 159367 HGNC:20249 "ENST00000299084.9|NM_152594.3" HGNC:20249 +HGNC:17722 SPRED2 sprouty related EVH1 domain containing 2 protein-coding gene gene with protein product Approved 2p14 02p14 "Spred-2|FLJ21897|FLJ31917" 2003-06-02 2016-04-28 2016-04-28 200734 ENSG00000198369 OTTHUMG00000152737 uc010fcw.4 AF052178 NM_001128210 "CCDS46308|CCDS33211" Q7Z698 MGI:2150019 RGD:1309304 609292 HGNC:17722 "ENST00000356388.9|NM_181784.3" +HGNC:31041 SPRED3 sprouty related EVH1 domain containing 3 protein-coding gene gene with protein product Approved 19q13 19q13 2004-01-22 2016-04-28 2020-04-20 399473 ENSG00000188766 OTTHUMG00000182082 uc002oim.5 NM_001042522 CCDS42560 Q2MJR0 14618415 MGI:2142186 RGD:1311713 609293 HGNC:31041 "ENST00000691638.1|NM_001394336.1" +HGNC:26128 SPRING1 SREBF pathway regulator in golgi 1 protein-coding gene gene with protein product Approved 12q24.22 12q24.22 "FLJ21415|SPRING|POST1|LUR1" "SREBP regulating gene|partner of site-1 protease" C12orf49 chromosome 12 open reading frame 49 2006-01-24 2020-04-29 2020-04-29 2020-07-28 79794 ENSG00000111412 OTTHUMG00000169392 uc001tvz.2 AK025068 NM_024738 CCDS9179 Q9H741 "32111832|32666500|32694731|32694732" MGI:1924042 RGD:1562310 HGNC:26128 "ENST00000261318.5|NM_024738.4" +HGNC:44986 SPRING1P1 SPRING1 pseudogene 1 pseudogene pseudogene Approved 10q11.21 10q11.21 2020-04-29 2020-04-29 100132615 ENSG00000271173 OTTHUMG00000184663 NG_022172 PGOHUM00000290131 +HGNC:55130 SPRING1P2 SPRING1 pseudogene 2 pseudogene pseudogene Approved Xq26.1 Xq26.1 2020-07-02 2020-07-02 100130170 ENSG00000238188 NG_022703 +HGNC:16871 SPRN shadow of prion protein protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "Shadoo|bA108K14.1|FLJ41197" hypothetical protein BC004409 shadow of prion protein homolog (zebrafish) 2005-08-15 2017-02-15 2020-05-04 503542 ENSG00000203772 OTTHUMG00000019324 uc001lnf.5 NM_001012508 CCDS53589 Q5BIV9 14527721 MGI:3582583 RGD:1561845 610447 HGNC:16871 "ENST00000685335.1|NM_001391974.1" +HGNC:37819 SPRNP1 shadow of prion protein pseudogene 1 pseudogene pseudogene Approved 10q26.3 10q26.3 FLJ44653 shadow of prion protein homolog (zebrafish) pseudogene 1 2010-06-30 2017-02-15 2017-02-15 399833 AK126615 NR_033789 20206252 HGNC:37819 +HGNC:11259 SPRR1A small proline rich protein 1A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 cornifin-A small proline-rich protein 1A Small proline rich proteins 1353 1993-01-20 2016-01-25 2016-10-05 6698 ENSG00000169474 OTTHUMG00000014404 uc057lan.1 L05187 NM_005987 CCDS1032 P35321 8325635 MGI:106660 RGD:1593163 182265 HGNC:11259 +HGNC:11260 SPRR1B small proline rich protein 1B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 GADD33 cornifin-B SPRR1 small proline-rich protein 1B Small proline rich proteins 1353 1993-01-20 2016-01-25 2018-05-18 6699 ENSG00000169469 OTTHUMG00000013869 uc001fba.4 M84757 NM_003125 CCDS30863 P22528 "8325635|1438308" MGI:106659 RGD:1587862 182266 HGNC:11260 "ENST00000307098.5|NM_003125.3" +HGNC:11261 SPRR2A small proline rich protein 2A protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2A Small proline rich proteins 1353 1993-01-20 2016-01-25 2016-10-05 6700 ENSG00000241794 OTTHUMG00000014395 uc001fbd.4 X53064 NM_005988 CCDS1034 P35326 8325635 MGI:1330347 182267 HGNC:11261 "ENST00000392653.3|NM_005988.3" +HGNC:11262 SPRR2B small proline rich protein 2B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2B Small proline rich proteins 1353 1993-01-20 2016-01-25 2016-10-05 6701 ENSG00000196805 OTTHUMG00000013863 uc057lau.1 AF333952 NM_001017418 CCDS30865 P35325 8325635 MGI:1330347 182268 HGNC:11262 "ENST00000368755.3|NM_001388198.1" +HGNC:11263 SPRR2C small proline rich protein 2C (pseudogene) pseudogene pseudogene Approved 1q21.3 01q21.3 "small proline-rich protein 2C|small proline-rich protein 2C (pseudogene)" Small proline rich proteins 1353 1993-01-20 2016-01-25 2021-10-07 6702 ENSG00000229035 OTTHUMG00000013864 M21539 NR_003062 "8325635|3133554" 182269 HGNC:11263 +HGNC:11264 SPRR2D small proline rich protein 2D protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2D Small proline rich proteins 1353 2004-10-28 2016-01-25 2016-10-05 6703 ENSG00000163216 OTTHUMG00000014396 uc057lar.1 AF333954 NM_001382248 CCDS30864 P22532 8325635 RGD:7559659 617587 HGNC:11264 "ENST00000360379.4|NM_006945.5" +HGNC:11265 SPRR2E small proline rich protein 2E protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2E Small proline rich proteins 1353 2004-10-28 2016-01-25 2016-10-05 6704 ENSG00000203785 OTTHUMG00000014397 uc057lav.1 AF333955 NM_001024209 CCDS30866 P22531 8325635 MGI:1330347 617588 HGNC:11265 "ENST00000368750.8|NM_001024209.4" +HGNC:11266 SPRR2F small proline rich protein 2F protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2F Small proline rich proteins 1353 2004-10-22 2016-01-25 2017-03-31 6705 ENSG00000244094 OTTHUMG00000014398 uc001fbi.4 AF333956 NM_001014450 CCDS30867 Q96RM1 "8325635|11279051" MGI:1330347 RGD:7654558 617589 HGNC:11266 "ENST00000468739.2|NM_001014450.3" +HGNC:11267 SPRR2G small proline rich protein 2G protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 2G Small proline rich proteins 1353 2004-10-22 2016-01-25 2017-03-31 6706 ENSG00000159516 OTTHUMG00000014399 uc009wod.3 AF333957 NM_001014291 CCDS30868 Q9BYE4 "8325635|11279051" RGD:7690861 617590 HGNC:11267 "ENST00000368748.5|NM_001014291.4" +HGNC:11268 SPRR3 small proline rich protein 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 3 Small proline rich proteins 1353 1993-01-20 2016-01-25 2016-10-05 6707 ENSG00000163209 OTTHUMG00000013872 uc001fax.5 AY118269 NM_005416 CCDS1033 Q9UBC9 8325635 MGI:1330237 RGD:1309589 182271 HGNC:11268 "ENST00000295367.5|NM_001097589.2" +HGNC:23173 SPRR4 small proline rich protein 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 small proline-rich protein 4 Small proline rich proteins 1353 2003-09-26 2016-01-25 2016-01-25 163778 ENSG00000184148 OTTHUMG00000012450 uc001fav.2 AF335109 NM_173080 CCDS1031 Q96PI1 "11719550|11279051" MGI:2654508 RGD:2324572 616363 HGNC:23173 "ENST00000328051.3|NM_173080.3" +HGNC:53428 SPRR5 small proline rich protein 5 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Small proline rich proteins 1353 2017-03-31 2019-01-10 110806278 ENSG00000283227 OTTHUMG00000177850 NM_001395435 A0A1B0GTR4 30622217 +HGNC:25356 SPRTN SprT-like N-terminal domain protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "DKFZP547N043|Spartan|DVC1" "SprT-like domain at the N terminus|DNA damage-targeting VCP (p97) adaptor" C1orf124 chromosome 1 open reading frame 124 2005-06-23 2012-06-18 2012-06-18 2016-10-18 83932 ENSG00000010072 OTTHUMG00000038022 uc001hur.5 AL512744 NM_032018 "CCDS1594|CCDS58066|CCDS31054" Q9H040 "22681887|25496645" MGI:2685351 RGD:1559496 616086 444788 HGNC:25356 "ENST00000295050.12|NM_032018.7" HGNC:25356 +HGNC:11269 SPRY1 sprouty RTK signaling antagonist 1 protein-coding gene gene with protein product Approved 4q28.1 04q28.1 hSPRY1 "sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)|sprouty homolog 1, antagonist of FGF signaling (Drosophila)" 1998-11-09 2015-06-26 2016-10-05 10252 ENSG00000164056 OTTHUMG00000133071 uc031sgy.1 AF041037 NM_001258038 CCDS3731 O43609 "9458049|15962011" MGI:1345139 RGD:1309293 602465 HGNC:11269 "ENST00000651917.1|NM_001258038.2" +HGNC:11270 SPRY2 sprouty RTK signaling antagonist 2 protein-coding gene gene with protein product Approved 13q31.1 13q31.1 hSPRY2 "sprouty (Drosophila) homolog 2|sprouty homolog 2 (Drosophila)" 1998-11-09 2015-06-26 2015-08-26 10253 ENSG00000136158 OTTHUMG00000017140 uc001vlj.4 AF039843 NM_001318536 CCDS9463 O43597 9458049 MGI:1345138 RGD:1311472 602466 HGNC:11270 "ENST00000377104.4|NM_005842.4" HGNC:11270 +HGNC:11271 SPRY3 sprouty RTK signaling antagonist 3 protein-coding gene gene with protein product Approved Xq28 and Yq12 Xq28 and Yq12 HSPRY3 antagonist of FGF signaling "sprouty (Drosophila) homolog 2|sprouty homolog 3 (Drosophila)" Pseudoautosomal region 2 716 1998-11-09 2015-06-26 2015-08-26 10251 ENSG00000168939 OTTHUMG00000022675 uc004fxi.2 AF041038 NM_005840 CCDS14769 O43610 9458049 MGI:1345188 RGD:1562172 300531 HGNC:11271 +HGNC:15533 SPRY4 sprouty RTK signaling antagonist 4 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 sprouty homolog 4 (Drosophila) 2002-01-22 2015-06-26 2015-08-26 81848 ENSG00000187678 OTTHUMG00000129663 uc003lml.3 AF227516 NM_001127496 "CCDS4274|CCDS47296" Q9C004 16465403 MGI:1345144 RGD:1305324 607984 353749 HGNC:15533 "ENST00000434127.3|NM_001127496.3" HGNC:15533 +HGNC:53465 SPRY4-AS1 SPRY4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 THCAT68 Antisense RNAs 1987 2017-04-27 2017-04-27 101926941 ENSG00000231185 OTTHUMG00000133693 NR_120664 28415801 HGNC:53465 +HGNC:42394 SPRY4-IT1 SPRY4 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q31.3 05q31.3 SPRIGHTLY SPRY4 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-07-07 2015-02-25 2018-08-09 100642175 OTTHUMG00000189512 uc063iel.1 AK024556 NR_131221 "21558391|25344859|26829028" 617617 spry4-it1 HGNC:42394 +HGNC:25920 SPRYD3 SPRY domain containing 3 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 FLJ14800 2006-01-25 2006-02-02 2015-07-22 84926 ENSG00000167778 OTTHUMG00000170101 uc001sbt.2 AK074694 NM_032840 CCDS8845 Q8NCJ5 14702039 MGI:2446175 RGD:1561500 HGNC:25920 "ENST00000301463.9|NM_032840.3" +HGNC:27468 SPRYD4 SPRY domain containing 4 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 DKFZp686N0877 2006-03-01 2015-07-22 283377 ENSG00000176422 OTTHUMG00000187405 uc001sli.5 AL832247 NM_207344 CCDS8920 Q8WW59 MGI:1913951 RGD:1306649 HGNC:27468 "ENST00000338146.7|NM_207344.4" +HGNC:14297 SPRYD7 SPRY domain containing 7 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 CLLD6 C13orf1 chromosome 13 open reading frame 1 2001-01-26 2011-05-25 2011-05-25 2016-10-05 57213 ENSG00000123178 OTTHUMG00000016924 uc001vdl.3 AF055016 NM_020456 "CCDS9422|CCDS45046" Q5W111 "11306461|11771308" MGI:1913924 RGD:1306437 607866 HGNC:14297 "ENST00000361840.8|NM_020456.4" +HGNC:52300 SPRYD7P1 SPRY domain containing 7 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 2016-06-30 2016-06-30 100130843 ENSG00000234404 OTTHUMG00000013135 NG_022675 PGOHUM00000305164 HGNC:52300 +HGNC:30628 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 SSB-1 2005-09-01 2014-11-19 80176 ENSG00000171621 OTTHUMG00000001279 uc010oae.3 NM_025106 CCDS102 Q96BD6 "15713673|12076535" MGI:1921896 RGD:1309319 611657 HGNC:30628 "ENST00000328089.11|NM_025106.4" +HGNC:29522 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "GRCC9|SSB-2" 2005-09-01 2019-08-21 84727 ENSG00000111671 OTTHUMG00000156665 uc001qrm.4 AF403027 NM_032641 CCDS8567 Q99619 "8723724|12076535" MGI:1315199 RGD:1310854 611658 HGNC:29522 "ENST00000524270.6|NM_032641.4" +HGNC:30629 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 SSB-3 C16orf31 chromosome 16 open reading frame 31 2005-09-01 2019-08-20 90864 ENSG00000162032 OTTHUMG00000176746 uc002cmu.4 NM_080861 CCDS32365 Q6PJ21 12076535 MGI:1891471 RGD:1310936 611659 HGNC:30629 "ENST00000566339.6|NM_080861.4" +HGNC:30630 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 protein-coding gene gene with protein product Approved 3q23 03q23 SSB-4 2005-09-01 2014-11-19 92369 ENSG00000175093 OTTHUMG00000160223 uc003ett.4 NM_080862 CCDS3115 Q96A44 12076535 MGI:2183445 RGD:1562307 611660 HGNC:30630 "ENST00000310546.3|NM_080862.3" +HGNC:11272 SPTA1 spectrin alpha, erythrocytic 1 protein-coding gene gene with protein product Approved 1q23.1 01q23.1 EL2 elliptocytosis 2 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) "EF-hand domain containing|Spectrins" "863|1113" 2001-06-22 2016-01-12 2021-05-26 6708 ENSG00000163554 OTTHUMG00000019636 uc001fst.2 M61877 NM_003126 CCDS41423 P02549 MGI:98385 RGD:1305194 LRG_1131|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1131.xml 182860 119846 HGNC:11272 "ENST00000643759.2|NM_003126.4" HGNC:11272 +HGNC:11273 SPTAN1 spectrin alpha, non-erythrocytic 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 alpha-fodrin "EF-hand domain containing|Spectrins" "863|1113" 2001-06-22 2016-01-12 2021-05-26 6709 ENSG00000197694 OTTHUMG00000020754 uc004bvl.5 M19725 NM_003127 "CCDS87696|CCDS6905|CCDS48036|CCDS75914|CCDS87695" Q13813 3336352 MGI:98386 RGD:621714 182810 235187 HGNC:11273 "ENST00000372739.7|NM_001130438.3" HGNC:11273 +HGNC:11274 SPTB spectrin beta, erythrocytic protein-coding gene gene with protein product Approved 14q23.3 14q23.3 spherocytosis, clinical type I "Pleckstrin homology domain containing|Spectrins|MicroRNA protein coding host genes" "682|1113|1691" 2001-06-22 2016-01-12 2021-04-13 6710 ENSG00000070182 OTTHUMG00000171550 uc001xhs.3 NM_001024858 "CCDS32099|CCDS32100" P11277 2209094 MGI:98387 RGD:1303243 LRG_1130|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1130.xml 182870 119849 HGNC:11274 "ENST00000644917.1|NM_001355436.2" HGNC:11274 +HGNC:11275 SPTBN1 spectrin beta, non-erythrocytic 1 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 "Fodrin beta chain|Beta-II spectrin" "Pleckstrin homology domain containing|Spectrins" "682|1113" 1989-01-16 2016-01-12 2021-05-26 6711 ENSG00000115306 OTTHUMG00000133746 uc002rxu.4 NM_003128 "CCDS33198|CCDS33199" Q01082 MGI:98388 RGD:727922 182790 HGNC:11275 "ENST00000356805.9|NM_003128.3" +HGNC:40562 SPTBN1-AS1 SPTBN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p16.2 02p16.2 SPTBN1-AS2 SPTBN1 antisense RNA 2 Antisense RNAs 1987 2020-03-27 2020-03-27 2020-03-27 2020-03-27 105374640 ENSG00000228108 +HGNC:40563 SPTBN1-AS2 SPTBN1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 2p16.2 02p16.2 Antisense RNAs 1987 2021-12-10 2021-12-10 123706536 ENSG00000238018 OTTHUMG00000152506 +HGNC:11276 SPTBN2 spectrin beta, non-erythrocytic 2 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 SCA5 spinocerebellar ataxia 5 "Pleckstrin homology domain containing|Spectrins" "682|1113" 1997-10-16 2016-01-12 2021-05-26 6712 ENSG00000173898 OTTHUMG00000167262 uc001ojd.4 "AB008567|AF026487|AF026488|AF079569" NM_006946 CCDS8150 O15020 "9826670|16429157" MGI:1313261 RGD:3751 604985 119851 HGNC:11276 "ENST00000533211.6|NM_006946.4" HGNC:11276 +HGNC:14896 SPTBN4 spectrin beta, non-erythrocytic 4 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "SPTBN3|KIAA1642" "Pleckstrin homology domain containing|Spectrins" "682|1113" 2001-05-09 2016-01-12 2021-05-26 57731 ENSG00000160460 OTTHUMG00000182592 uc002ony.4 AF082075 NM_020971 "CCDS42569|CCDS12559" Q9H254 11086001 MGI:1890574 RGD:1304682 606214 HGNC:14896 "ENST00000598249.6|NM_020971.3" HGNC:14896 +HGNC:15680 SPTBN5 spectrin beta, non-erythrocytic 5 protein-coding gene gene with protein product Approved 15q21 15q21 "HUSPECV|BSPECV|HUBSPECV" beta V spectrin "Spectrins|MicroRNA protein coding host genes" "1113|1691" 2001-05-29 2016-01-12 2016-01-12 51332 ENSG00000137877 OTTHUMG00000172720 uc001zos.5 AF233523 NM_016642 CCDS61599 Q9NRC6 10764729 MGI:2685200 RGD:1311047 605916 HGNC:15680 "ENST00000320955.8|NM_016642.4" +HGNC:11277 SPTLC1 serine palmitoyltransferase long chain base subunit 1 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "LCB1|SPTI|HSAN1|hLCB1" HSN1 hereditary sensory neuropathy, type 1 2000-07-31 2016-01-12 2021-04-13 10558 ENSG00000090054 OTTHUMG00000021047 uc004arl.3 Y08685 NM_006415 "CCDS6693|CCDS6692" O15269 9363775 MGI:1099431 RGD:1307140 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_272|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_272.xml" 605712 119854 objectId:2509 2.3.1.50 HGNC:11277 "ENST00000262554.7|NM_006415.4" HGNC:11277 +HGNC:39668 SPTLC1P1 serine palmitoyltransferase long chain base subunit 1 pseudogene 1 pseudogene pseudogene Approved 10p11.22 10p11.22 2011-03-22 2016-01-12 2016-01-12 100874511 ENSG00000230397 OTTHUMG00000017906 NG_032341 PGOHUM00000238713 HGNC:39668 +HGNC:39669 SPTLC1P2 serine palmitoyltransferase long chain base subunit 1 pseudogene 2 pseudogene pseudogene Approved 6p22.3 06p22.3 2011-03-22 2016-01-12 2016-01-12 100874498 ENSG00000218512 OTTHUMG00000014352 NG_032342 PGOHUM00000243075 HGNC:39669 +HGNC:39670 SPTLC1P3 serine palmitoyltransferase long chain base subunit 1 pseudogene 3 pseudogene pseudogene Approved 6q12 06q12 2011-03-22 2016-01-12 2016-01-12 100874499 ENSG00000219940 OTTHUMG00000014941 NG_032343 PGOHUM00000243654 HGNC:39670 +HGNC:39671 SPTLC1P4 serine palmitoyltransferase long chain base subunit 1 pseudogene 4 pseudogene pseudogene Approved 1q21.3 01q21.3 2011-03-22 2016-01-12 2016-01-12 100874500 ENSG00000232678 OTTHUMG00000013057 NG_032344 PGOHUM00000245003 HGNC:39671 +HGNC:39672 SPTLC1P5 serine palmitoyltransferase long chain base subunit 1 pseudogene 5 pseudogene pseudogene Approved 13q22.3 13q22.3 2011-03-22 2016-01-12 2016-01-12 100874512 ENSG00000227922 OTTHUMG00000017109 NG_032345 PGOHUM00000248637 HGNC:39672 +HGNC:11278 SPTLC2 serine palmitoyltransferase long chain base subunit 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "KIAA0526|LCB2|LCB2A|hLCB2a" 2000-08-01 2016-01-12 2021-04-13 9517 ENSG00000100596 OTTHUMG00000171540 uc001xub.4 AB011098 NM_004863 CCDS9865 O15270 "8921873|9363775" MGI:108074 RGD:1305447 LRG_371|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_371.xml 605713 244400 objectId:2510 2.3.1.50 HGNC:11278 "ENST00000216484.7|NM_004863.4" HGNC:11278 +HGNC:16253 SPTLC3 serine palmitoyltransferase long chain base subunit 3 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "LCB2B|FLJ11112|hLCB2b" "C20orf38|SPTLC2L" "chromosome 20 open reading frame 38|serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)" 2001-07-17 2006-12-21 2016-01-12 2016-01-12 55304 ENSG00000172296 OTTHUMG00000031899 uc002wod.2 AL109983 NM_018327 CCDS13115 Q9NUV7 17023427 MGI:2444678 RGD:1310030 611120 471146 objectId:2511 2.3.1.50 HGNC:16253 "ENST00000399002.7|NM_018327.4" +HGNC:20361 SPTSSA serine palmitoyltransferase small subunit A protein-coding gene gene with protein product Approved 14q13.1 14q13.1 ssSPTa small subunit of serine palmitoyltransferase A C14orf147 "chromosome 14 open reading frame 147|serine palmitoyltransferase, small subunit A" 2003-01-28 2011-07-26 2015-11-17 2015-11-17 171546 ENSG00000165389 OTTHUMG00000140212 uc001wsc.4 AK001993 NM_138288 CCDS9647 Q969W0 19416851 MGI:1913399 RGD:1565821 613540 objectId:2512 HGNC:20361 "ENST00000298130.5|NM_138288.4" +HGNC:24045 SPTSSB serine palmitoyltransferase small subunit B protein-coding gene gene with protein product Approved 3q26.1 03q26.1 "ADMP|ssSPTb" "androgen down regulated in mouse prostate|small subunit of serine palmitoyltransferase B" C3orf57 "chromosome 3 open reading frame 57|serine palmitoyltransferase, small subunit B" 2006-02-06 2011-07-26 2015-11-17 2015-11-17 165679 ENSG00000196542 OTTHUMG00000159073 uc003fee.4 AF458592 NM_145035 CCDS33887 Q8NFR3 "15777716|19416851" MGI:1913433 RGD:2324614 610412 objectId:2513 HGNC:24045 "ENST00000620149.2|NM_001040100.2" +HGNC:26818 SPTY2D1 SPT2 chromatin protein domain containing 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "FLJ39441|DKFZp686I068|Spt2" SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 2005-10-28 2015-07-31 2015-07-31 144108 ENSG00000179119 OTTHUMG00000167733 uc001moy.4 BX647798 NM_194285 CCDS31441 Q68D10 23378026 MGI:2142062 RGD:2319415 HGNC:26818 "ENST00000336349.6|NM_194285.3" +HGNC:44122 SPTY2D1OS SPTY2D1 opposite strand protein-coding gene gene with protein product Approved 11p15.1 11p15.1 SPTY2D1-AS1 "SPTY2D1 antisense RNA 1 (non-protein coding)|SPTY2D1 antisense RNA 1" 2012-06-23 2017-09-28 2017-09-28 2020-06-15 100506540 ENSG00000247595 OTTHUMG00000167731 uc284myb.1 AK097654 NM_001355570 CCDS86186 A0A0U1RRN3 HGNC:44122 "ENST00000635674.2|NM_001355570.4" +HGNC:28139 SPX spexin hormone protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "MGC10946|NPQ|spexin" neuropeptide Q C12orf39 chromosome 12 open reading frame 39 2006-01-23 2014-04-16 2014-04-16 2014-11-18 80763 ENSG00000134548 OTTHUMG00000169134 AK027273 NM_030572 CCDS31757 Q9BT56 "22038051|24550067" MGI:2442262 RGD:1587448 619246 ligandId:11417 HGNC:28139 "ENST00000256969.7|NM_030572.4" +HGNC:30721 SPZ1 spermatogenic leucine zipper 1 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "NYD-TSP1|FLJ25709|PPP1R148" protein phosphatase 1, regulatory subunit 148 Protein phosphatase 1 regulatory subunits 694 2005-11-15 2016-10-25 84654 ENSG00000164299 OTTHUMG00000162514 uc003kgn.4 NM_032567 CCDS43336 Q9BXG8 "11165476|12778315|15226296|15829580|15899793" MGI:1930801 RGD:1562395 618068 HGNC:30721 "ENST00000296739.6|NM_032567.4" +HGNC:11279 SQLE squalene epoxidase protein-coding gene gene with protein product Approved 8q24.13 08q24.13 squalene monooxygenase 1997-05-15 2017-12-15 6713 ENSG00000104549 OTTHUMG00000164990 uc011liq.3 D78130 NM_003129 CCDS47918 Q14534 9286711 MGI:109296 RGD:3755 602019 objectId:2433 1.14.14.17 HGNC:11279 "ENST00000265896.10|NM_003129.4" +HGNC:55534 SQLE-DT SQLE divergent transcript non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 Divergent transcripts 1990 2021-03-24 2021-03-24 105375744 ENSG00000253513 NR_134457 +HGNC:20390 SQOR sulfide quinone oxidoreductase protein-coding gene gene with protein product Approved 15q21.1 15q21.1 "CGI-44|SQR" SQRDL sulfide quinone reductase-like (yeast) 2003-01-31 2017-03-09 2017-03-09 2017-03-09 58472 ENSG00000137767 OTTHUMG00000131476 uc059ivj.1 AF042284 NM_001271213 CCDS10127 Q9Y6N5 "10810093|10224084" MGI:1929899 RGD:1564504 617658 HGNC:20390 "ENST00000260324.12|NM_021199.4" HGNC:20390 +HGNC:11280 SQSTM1 sequestosome 1 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "p62|p60|p62B|A170" autophagy receptor p62 "PDB3|OSIL" "Paget disease of bone 3|oxidative stress induced like" Zinc fingers ZZ-type 91 2000-06-13 2004-04-15 2021-05-26 8878 ENSG00000161011 OTTHUMG00000150643 uc003mkw.5 U46751 NM_001142298 "CCDS34317|CCDS47355" Q13501 "8650207|8551575" MGI:107931 RGD:69287 601530 280122 HGNC:11280 "ENST00000389805.9|NM_003900.5" HGNC:11280 +HGNC:49099 SQSTM1P1 sequestosome 1 pseudogene 1 pseudogene pseudogene Approved 13q21.31 13q21.31 2013-09-02 2013-09-02 106480677 ENSG00000271465 OTTHUMG00000184733 NG_043211 PGOHUM00000248416 HGNC:49099 +HGNC:11281 SRA1 steroid receptor RNA activator 1 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "SRA|STRAA1" steriod receptor RNA activator 1 2000-04-13 2002-07-29 2018-10-10 10011 ENSG00000213523 OTTHUMG00000163569 uc003lga.4 AF092038 NM_001035235 CCDS34245 Q9HD15 "10199399|30272285" MGI:1344414 RGD:621148 603819 HGNC:11281 "ENST00000336283.9|NM_001035235.4" +HGNC:28339 SRARP steroid receptor associated and regulated protein protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "MGC24047|ERRF" ER-related factor C1orf64 chromosome 1 open reading frame 64 2005-05-16 2017-07-13 2017-07-13 2018-04-05 149563 ENSG00000183888 OTTHUMG00000009523 uc001axn.4 AK127425 NM_178840 CCDS166 Q8NEQ6 "29577611|27125460|28915724" MGI:2685540 RGD:1566083 619448 HGNC:28339 "ENST00000329454.2|NM_178840.4" +HGNC:25521 SRBD1 S1 RNA binding domain 1 protein-coding gene gene with protein product Approved 2p21 02p21 FLJ10379 2006-03-24 2019-03-19 55133 ENSG00000068784 OTTHUMG00000128814 uc002rus.4 AK056536 NM_018079 CCDS1823 Q8N5C6 24040232 MGI:1925836 RGD:1562788 HGNC:25521 "ENST00000263736.5|NM_018079.5" +HGNC:11283 SRC SRC proto-oncogene, non-receptor tyrosine kinase protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "ASV|c-src" SRC1 v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog "SH2 domain containing|Src family tyrosine kinases" "741|1388" 2001-06-22 2014-06-25 2021-04-13 6714 ENSG00000197122 OTTHUMG00000032417 uc002xgy.5 AF077754 NM_005417 CCDS13294 P12931 2582238 MGI:98397 RGD:620795 LRG_1018|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1018.xml SRC 190090 objectId:2206 HGNC:11283 "ENST00000373578.7|NM_198291.3" HGNC:11283 +HGNC:16974 SRCAP Snf2 related CREBBP activator protein protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "KIAA0309|SWR1|DOMO1" "Swi2/Snf2-related ATPase homolog (S. cerevisiae)|domino homolog 1 (Drosophila)" Snf2-related CREBBP activator protein "SRCAP complex|Small nucleolar RNA protein coding host genes" "1329|1835" 2007-11-29 2016-09-14 2022-01-17 10847 ENSG00000080603 OTTHUMG00000132393 uc002dze.2 AB002307 NM_006662 CCDS10689 Q6ZRS2 "10347196|25176633" MGI:2444036 RGD:1565642 611421 292309 HGNC:16974 "ENST00000262518.9|NM_006662.3" HGNC:16974 +HGNC:29506 SRCIN1 SRC kinase signaling inhibitor 1 protein-coding gene gene with protein product Approved 17q12 17q12 "SNIP|p140Cap|KIAA1684" "p130Cas-associated protein|SNAP-25-interacting protein" 2009-12-14 2015-01-30 80725 ENSG00000277363 OTTHUMG00000188493 uc032glc.2 NM_025248 CCDS45660 Q9C0H9 11214970 MGI:1933179 RGD:708439 610786 HGNC:29506 "ENST00000617146.5|NM_025248.3" +HGNC:11284 SRD5A1 steroid 5 alpha-reductase 1 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 3-oxo-5-alpha-steroid 4-dehydrogenase 1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) Steroid 5-alpha reductase family 1967 1991-05-21 2016-01-28 2019-10-07 6715 ENSG00000145545 OTTHUMG00000090456 uc003jdw.4 M32313 NM_001047 CCDS3870 P18405 1686016 MGI:98400 RGD:3757 184753 471148 1.3.1.22 HGNC:11284 "ENST00000274192.7|NM_001047.4" +HGNC:11286 SRD5A1P1 steroid 5 alpha-reductase 1 pseudogene 1 pseudogene pseudogene Approved Xq27.1 Xq27.1 SRD5AP1 "steroid-5-alpha-reductase, alpha polypeptide pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene)|steroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene)|steroid 5 alpha-reductase A1 pseudogene 1" 1991-05-15 2009-12-02 2016-01-28 2016-01-28 6719 ENSG00000232549 OTTHUMG00000022684 M68887 NG_001196 1686016 PGOHUM00000242046 HGNC:11286 +HGNC:11285 SRD5A2 steroid 5 alpha-reductase 2 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 3-oxo-5-alpha-steroid 4-dehydrogenase 2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) Steroid 5-alpha reductase family 1967 1991-05-21 2016-01-28 2021-05-26 6716 ENSG00000277893 OTTHUMG00000152057 uc032nip.2 M74047 NM_000348 CCDS74503 P31213 1522235 MGI:2150380 RGD:621480 607306 119860 objectId:2633 1.3.1.22 HGNC:11285 "ENST00000622030.2|NM_000348.4" HGNC:11285 +HGNC:55160 SRD5A2P1 SRD5A2 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2020-07-17 2020-07-17 118568808 ENSG00000230491 +HGNC:25812 SRD5A3 steroid 5 alpha-reductase 3 protein-coding gene gene with protein product Approved 4q12 04q12 "FLJ13352|SRD5A2L|SRD5A2L1" "polyprenol reductase|3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))" Steroid 5-alpha reductase family 1967 2007-11-12 2021-05-26 79644 ENSG00000128039 OTTHUMG00000128733 uc003hau.4 AK023414 NM_024592 CCDS3498 Q9H8P0 17986282 MGI:1930252 RGD:1308828 611715 242919 "1.3.1.94|1.3.1.22" HGNC:25812 "ENST00000264228.9|NM_024592.5" HGNC:25812 +HGNC:44138 SRD5A3-AS1 SRD5A3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q12 04q12 SRD5A3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100506462 ENSG00000249700 OTTHUMG00000160655 uc062wsh.1 BC034006 NR_037969 SRD5A3-AS1 HGNC:44138 +HGNC:49243 SRD5A3P1 steroid 5 alpha-reductase 3 pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 2013-10-14 2013-10-14 390203 ENSG00000270929 OTTHUMG00000184761 NG_030280 PGOHUM00000258593 HGNC:49243 +HGNC:11289 SREBF1 sterol regulatory element binding transcription factor 1 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "SREBP1|bHLHd1|SREBP-1c|SREBP1a" Sterol regulatory element-binding protein 1 "Basic helix-loop-helix proteins|MicroRNA protein coding host genes" "420|1691" 1994-11-23 2021-12-08 6720 ENSG00000072310 OTTHUMG00000059313 uc002gru.3 BC057388 NM_004176 "CCDS11189|CCDS32583" P36956 "8402897|7759101" MGI:107606 RGD:69423 184756 HGNC:11289 "ENST00000261646.11|NM_004176.5" HGNC:11289 +HGNC:11290 SREBF2 sterol regulatory element binding transcription factor 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "SREBP2|bHLHd2" Sterol regulatory element-binding protein 2 "Basic helix-loop-helix proteins|MicroRNA protein coding host genes" "420|1691" 1994-11-23 2021-12-08 6721 ENSG00000198911 OTTHUMG00000151261 uc003bbi.5 U02031 NM_004599 CCDS14023 Q12772 "7903453|7759101" MGI:107585 RGD:1307751 600481 HGNC:11290 "ENST00000361204.9|NM_004599.4" +HGNC:53953 SREBF2-AS1 SREBF2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 "RP5|821D11.7" Antisense RNAs 1987 2018-06-20 2021-10-11 112637020 ENSG00000184068 OTTHUMG00000151272 NR_157279 29568882 HGNC:53953 +HGNC:17882 SREK1 splicing regulatory glutamic acid and lysine rich protein 1 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "DKFZp564B176|SRrp86|SRrp508" serine-arginine-rich splicing regulatory protein 508 SFRS12 splicing factor, arginine/serine-rich 12 RNA binding motif containing 725 2002-01-16 2010-09-08 2016-06-06 2016-10-05 140890 ENSG00000153914 OTTHUMG00000097809 uc003jun.5 AF459094 NM_001077199 "CCDS43323|CCDS3991" Q8WXA9 12043562 MGI:2145245 RGD:621696 609268 HGNC:17882 "ENST00000334121.11|NM_001077199.3" +HGNC:26716 SREK1IP1 SREK1 interacting protein 1 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "FLJ36754|P18SRP" p18 splicing regulatory protein SFRS12IP1 "SFRS12-interacting protein 1|SREK1-interacting protein 1" 2007-11-20 2010-09-20 2016-01-28 2016-01-28 285672 ENSG00000153006 OTTHUMG00000162291 uc003jtk.4 AK094073 NM_173829 CCDS34171 Q8N9Q2 15456940 MGI:1914538 RGD:1305356 HGNC:26716 "ENST00000513458.9|NM_173829.4" +HGNC:54504 SREK1IP1P1 SREK1IP1 pseudogene 1 pseudogene pseudogene Approved 21q21.1 21q21.1 2019-08-28 2019-08-28 100288151 ENSG00000229336 OTTHUMG00000074609 NG_030288 PGOHUM00000297359 HGNC:54504 +HGNC:54505 SREK1IP1P2 SREK1IP1 pseudogene 2 pseudogene pseudogene Approved 6p12.2 06p12.2 2019-08-29 2019-08-29 115838655 ENSG00000271227 OTTHUMG00000184535 NG_066473 +HGNC:11291 SRF serum response factor protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MCM1 "minichromosome maintenance 1 homolog (S. cerevisiae)|c-fos serum response element-binding transcription factor" MADS box family 1086 1995-02-10 2015-08-25 2015-08-25 6722 ENSG00000112658 OTTHUMG00000014722 uc003oui.4 J03161 NM_003131 CCDS4889 P11831 "3203386|7744019" MGI:106658 RGD:1559787 600589 HGNC:11291 "ENST00000265354.6|NM_003131.4" +HGNC:26333 SRFBP1 serum response factor binding protein 1 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "FLJ25286|p49|STRAP|BUD22|Rlb1" BUD22 homolog (S. cerevisiae) 2005-04-14 2016-10-25 153443 ENSG00000151304 OTTHUMG00000162970 uc003kst.2 AK058015 NM_152546 CCDS43354 Q8NEF9 15492011 MGI:1914472 RGD:1359398 610479 HGNC:26333 "ENST00000339397.5|NM_152546.3" +HGNC:17382 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 "KIAA1304|ARHGAP13" "F-BAR domain containing |AH/BAR family Rho GTPase activating proteins" "1288|1923" 2002-12-09 2021-05-26 57522 ENSG00000196935 OTTHUMG00000168750 uc010ssp.2 AB037725 NM_001346201 CCDS8967 Q7Z6B7 11672528 MGI:2152936 RGD:1566260 606523 HGNC:17382 "ENST00000355086.8|NM_020762.4" HGNC:17382 +HGNC:19751 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "KIAA0456|ARHGAP34|SRGAP2A" FNBP2 formin binding protein 2 "F-BAR domain containing |Small nucleolar RNA protein coding host genes|AH/BAR family Rho GTPase activating proteins" "1288|1835|1923" 2002-11-25 2004-11-12 2004-11-12 2015-01-30 23380 ENSG00000266028 OTTHUMG00000184381 uc031vli.2 AB007925 NM_015326 "CCDS76262|CCDS73017|CCDS76261" O75044 "15046868|11672528" MGI:109605 RGD:1566016 606524 HGNC:19751 "ENST00000573034.8|NM_015326.5" +HGNC:40902 SRGAP2-AS1 SRGAP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p11.2 01p11.2 SRGAP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-22 2012-08-15 2016-10-11 100873165 ENSG00000230806 OTTHUMG00000013093 uc031uqc.1 AK127439 NR_104189 SRGAP2-AS1 HGNC:40902 +HGNC:35237 SRGAP2B SLIT-ROBO Rho GTPase activating protein 2B protein-coding gene gene with protein product Approved 1q21.1 01q21.1 SRGAP2P2 "SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2|SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)" "F-BAR domain containing |Small nucleolar RNA protein coding host genes" "1288|1835" 2008-10-27 2012-05-08 2013-02-13 2014-11-19 647135 ENSG00000196369 OTTHUMG00000041442 uc031urt.2 NM_001271870 "CCDS81365|CCDS72854" P0DMP2 "22559943|22559944" 614703 HGNC:35237 +HGNC:30584 SRGAP2C SLIT-ROBO Rho GTPase activating protein 2C protein-coding gene gene with protein product Approved 1p11.2 01p11.2 SRGAP2P1 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1 F-BAR domain containing 1288 2007-03-19 2012-05-08 2012-05-08 2014-11-19 653464 ENSG00000171943 OTTHUMG00000041445 uc057jxs.1 BC112927 NM_001271872 CCDS81364 P0DJJ0 "22559944|22559943" 614704 PGOHUM00000244882 HGNC:30584 "ENST00000367123.8|NM_001329984.2" +HGNC:43932 SRGAP2D SLIT-ROBO Rho GTPase activating protein 2D (pseudogene) pseudogene pseudogene Approved 1q21.1 01q21.1 SLIT-ROBO Rho GTPase activating protein 2D 2013-02-13 2014-06-18 2014-07-10 100996712 ENSG00000270872 OTTHUMG00000188642 NR_120535 22559943 614705 HGNC:43932 +HGNC:19744 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "KIAA0411|MEGAP|WRP|ARHGAP14" SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 "F-BAR domain containing |AH/BAR family Rho GTPase activating proteins" "1288|1923" 2002-12-09 2004-11-12 2004-11-12 2021-05-26 9901 ENSG00000196220 OTTHUMG00000090589 uc003brf.4 AB007871 NM_001033117 "CCDS2572|CCDS33689" O43295 12195014 MGI:2152938 RGD:1563152 606525 363255 HGNC:19744 "ENST00000383836.8|NM_014850.4" +HGNC:40898 SRGAP3-AS1 SRGAP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SRGAP3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874103 ENSG00000224808 OTTHUMG00000155031 uc062gih.1 "AI209215|BX111651" SRGAP3-AS1 +HGNC:40899 SRGAP3-AS2 SRGAP3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SRGAP3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2020-04-20 101927416 ENSG00000228723 OTTHUMG00000155019 uc062gin.1 NR_121663 SRGAP3-AS2 HGNC:40899 +HGNC:40900 SRGAP3-AS3 SRGAP3 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SRGAP3 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100288831 ENSG00000227929 OTTHUMG00000155028 uc062gip.2 NR_103443 SRGAP3-AS3 HGNC:40900 +HGNC:42434 SRGAP3-AS4 SRGAP3 antisense RNA 4 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SRGAP3 antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 101927440 ENSG00000235830 OTTHUMG00000155030 uc062gir.1 NR_146969 SRGAP3-AS4 HGNC:42434 +HGNC:9361 SRGN serglycin protein-coding gene gene with protein product Approved 10q22.1 10q22.1 PPG serglycin proteoglycan "PRG|PRG1" proteoglycan 1, secretory granule Proteoglycans 570 1988-07-22 2007-02-15 2007-02-15 2014-11-18 5552 ENSG00000122862 OTTHUMG00000018369 uc001joz.4 BC015516 NM_002727 CCDS7285 P10124 MGI:97756 RGD:619969 177040 HGNC:9361 "ENST00000242465.4|NM_002727.4" +HGNC:49107 SRGNP1 serglycin pseudogene 1 pseudogene pseudogene Approved 13q22.3 13q22.3 2013-09-03 2013-09-03 106480246 ENSG00000271386 OTTHUMG00000184868 NG_045605 PGOHUM00000248638 HGNC:49107 +HGNC:11292 SRI sorcin protein-coding gene gene with protein product Approved 7q21.12 07q21.12 EF-hand domain containing 863 1989-03-09 2021-04-13 6717 ENSG00000075142 OTTHUMG00000157267 uc003ujq.3 M32886 NM_003130 "CCDS47638|CCDS5612|CCDS59063" P30626 2901906 MGI:98419 RGD:1584485 LRG_414|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_414.xml 182520 HGNC:11292 "ENST00000265729.7|NM_003130.4" HGNC:11292 +HGNC:40564 SRI-AS1 SRI antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.12 07q21.12 Antisense RNAs 1987 2020-03-27 2020-03-27 102723885 ENSG00000254003 OTTHUMG00000164017 NR_120517 +HGNC:11293 SRIP1 sorcin pseudogene 1 pseudogene pseudogene Approved 4q12 04q12 SRIL sorcin-like 1989-05-15 2010-07-29 2010-07-29 2014-11-19 6644 ENSG00000248660 OTTHUMG00000160660 NG_003017 PGOHUM00000245920 HGNC:11293 +HGNC:38734 SRIP2 sorcin pseudogene 2 pseudogene pseudogene Approved Xq21.31 Xq21.31 2010-07-29 2014-11-19 100499485 ENSG00000224065 OTTHUMG00000021952 NG_027484 PGOHUM00000241436 HGNC:38734 +HGNC:38735 SRIP3 sorcin pseudogene 3 pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-07-29 2014-11-19 100861435 ENSG00000224953 OTTHUMG00000035294 NG_032006 PGOHUM00000233679 HGNC:38735 +HGNC:11295 SRL sarcalumenin protein-coding gene gene with protein product Approved 16p13.3 16p13.3 SAR 1992-07-20 2019-08-20 6345 ENSG00000185739 OTTHUMG00000177617 uc002cvz.4 AK056588 NM_001098814 "CCDS42113|CCDS81943" Q86TD4 2762314 MGI:2146620 RGD:1306564 604992 HGNC:11295 "ENST00000399609.7|NM_001098814.2" +HGNC:11296 SRM spermidine synthase protein-coding gene gene with protein product Approved 1p36.22 01p36.22 SPS1 SRML1 Seven-beta-strand methyltransferase motif containing 1400 1991-11-29 2016-10-05 6723 ENSG00000116649 OTTHUMG00000002119 uc001arz.2 BC033106 NM_003132 CCDS125 P19623 2344393 MGI:102690 RGD:620796 182891 2.5.1.16 HGNC:11296 "ENST00000376957.7|NM_003132.3" +HGNC:16552 SRMP1 SRM pseudogene 1 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ1057D4.1 spermidine synthase pseudogene 1 2001-09-17 2019-11-27 2019-11-27 170552 ENSG00000215448 OTTHUMG00000032673 AL121777 NG_001057 PGOHUM00000247667 HGNC:16552 +HGNC:20034 SRMP2 SRM pseudogene 2 pseudogene pseudogene Approved 14q23.1 14q23.1 spermidine synthase pseudogene 2 2003-01-13 2019-11-27 2019-11-27 326269 ENSG00000258485 OTTHUMG00000171293 NG_002532 PGOHUM00000247820 HGNC:20034 +HGNC:54681 SRMP3 SRM pseudogene 3 pseudogene pseudogene Approved 2q14.3 02q14.3 2019-11-27 2019-11-27 100419085 ENSG00000229173 NG_023605 +HGNC:11298 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "SRM|dJ697K14.1|PTK70" C20orf148 chromosome 20 open reading frame 148 "SH2 domain containing|PTK6 family tyrosine kinases" "741|1645" 1994-12-16 2003-08-22 2016-04-29 6725 ENSG00000125508 OTTHUMG00000032977 uc002yfi.3 NM_080823 CCDS13525 Q9H3Y6 "7935409|23822091" MGI:101865 RGD:1306602 617797 objectId:2207 2.7.10.2 HGNC:11298 "ENST00000217188.2|NM_080823.4" +HGNC:11304 SRP9 signal recognition particle 9 protein-coding gene gene with protein product Approved 1q42.12 01q42.12 signal recognition particle 9kDa Signal recognition particle 1876 1991-12-05 2016-06-22 2016-06-22 6726 ENSG00000143742 OTTHUMG00000037738 uc001hpg.4 BC015094 NM_003133 "CCDS1546|CCDS44323" P49458 7730321 MGI:1350930 RGD:1597343 600707 HGNC:11304 "ENST00000304786.12|NM_003133.6" +HGNC:23402 SRP9P1 signal recognition particle 9 pseudogene 1 pseudogene pseudogene Approved 10q23.32 10q23.32 SRP9L1 signal recognition particle 9-like 1 2004-06-02 2010-10-26 2010-10-26 2014-11-19 653226 ENSG00000180581 OTTHUMG00000040029 NG_012272 HGNC:23402 +HGNC:11299 SRP14 signal recognition particle 14 protein-coding gene gene with protein product Approved 15q22 15q22 "ALURBP|MGC14326" homologous Alu RNA binding protein signal recognition particle 14kD (homologous Alu RNA-binding protein) Signal recognition particle 1876 1991-12-05 2016-06-07 2016-06-07 6727 ENSG00000140319 OTTHUMG00000172391 uc001zkq.3 NM_003134 CCDS42017 P37108 8196634 MGI:107169 RGD:1308506 600708 HGNC:11299 "ENST00000267884.11|NM_003134.6" +HGNC:48619 SRP14-DT SRP14 divergent transcript non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 SRP14-AS1 SRP14 antisense RNA1 (head to head) Divergent transcripts 1990 2013-05-24 2021-04-23 2021-04-23 2021-04-23 100131089 ENSG00000248508 OTTHUMG00000172392 NR_040059 SRP14-AS1 HGNC:48619 +HGNC:33181 SRP14P1 signal recognition particle 14 pseudogene 1 pseudogene pseudogene Approved 12p13.31 12p13.31 signal recognition particle 14kDa (homologous Alu RNA binding protein) pseudogene 1 2006-11-16 2016-06-07 2017-10-26 390284 ENSG00000224906 OTTHUMG00000169121 XR_016442.1 PGOHUM00000291514 HGNC:33181 +HGNC:53768 SRP14P2 signal recognition particle 14 pseudogene 2 pseudogene pseudogene Approved 11q21 11q21 2017-10-26 2017-10-26 111644132 ENSG00000234106 OTTHUMG00000167443 NG_065996 PGOHUM00000291101 HGNC:53768 +HGNC:53769 SRP14P3 signal recognition particle 14 pseudogene 3 pseudogene pseudogene Approved 17q21.33 17q21.33 2017-10-26 2017-10-26 111644142 ENSG00000235183 OTTHUMG00000161831 NG_051976 PGOHUM00000294472 +HGNC:53770 SRP14P4 signal recognition particle 14 pseudogene 4 pseudogene pseudogene Approved 1q24.3 01q24.3 2017-10-26 2017-10-26 111644147 ENSG00000268062 OTTHUMG00000035501 NG_065997 PGOHUM00000295951 HGNC:53770 +HGNC:11300 SRP19 signal recognition particle 19 protein-coding gene gene with protein product Approved 5q22.2 05q22.2 signal recognition particle 19kDa Signal recognition particle 1876 1991-12-05 2016-06-22 2016-10-05 6728 ENSG00000153037 OTTHUMG00000186064 uc003kqc.4 NM_003135 "CCDS75286|CCDS56375|CCDS4108|CCDS56376|CCDS87319" P09132 2460823 MGI:1913634 RGD:1308437 182175 HGNC:11300 "ENST00000505459.6|NM_003135.3" +HGNC:11301 SRP54 signal recognition particle 54 protein-coding gene gene with protein product Approved 14q13.2 14q13.2 signal recognition particle 54kDa Signal recognition particle 1876 1991-12-05 2016-06-22 2021-05-26 6729 ENSG00000100883 OTTHUMG00000140214 uc001wso.4 X86373 NM_003136 CCDS9652 P61011 8722571 "MGI:1346087|MGI:3714357|MGI:3714359" RGD:621390 604857 HGNC:11301 "ENST00000216774.11|NM_003136.4" HGNC:11301 +HGNC:50643 SRP54-AS1 SRP54 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q13.2 14q13.2 SRP54 antisense RNA 1 (head to head) Antisense RNAs 1987 2014-06-02 2021-01-14 2021-01-14 100506157 ENSG00000258704 OTTHUMG00000170821 NR_151701 SRP54-AS1 HGNC:50643 +HGNC:11302 SRP68 signal recognition particle 68 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "signal recognition particle 68kD|signal recognition particle 68kDa" Signal recognition particle 1876 1991-12-05 2016-04-04 2016-04-04 6730 ENSG00000167881 OTTHUMG00000180054 uc002jqk.3 AF195951 NM_014230 "CCDS11738|CCDS58600|CCDS58601" Q9UHB9 10618370 MGI:1917447 RGD:1305376 604858 HGNC:11302 "ENST00000307877.7|NM_014230.4" +HGNC:30427 SRP68P1 signal recognition particle 68 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 SRPSMCR "signal recognition particle, Smith Magenis syndrome chromosome region|signal recognition particle 68kDa pseudogene 1" 2010-04-30 2016-06-22 2016-06-22 252841 ENSG00000266129 OTTHUMG00000178995 NG_001591 11997339 PGOHUM00000293969 HGNC:30427 +HGNC:30426 SRP68P2 signal recognition particle 68 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 SRPSMCR signal recognition particle 68kDa pseudogene 2 2010-04-30 2016-06-22 2016-06-22 252840 ENSG00000227689 OTTHUMG00000059407 NG_001590 11997339 PGOHUM00000294299 HGNC:30426 +HGNC:30428 SRP68P3 signal recognition particle 68 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 SRPSMCR signal recognition particle 68kDa pseudogene 3 2010-04-30 2016-06-22 2016-06-22 347717 ENSG00000237911 OTTHUMG00000130729 NG_002720 11997339 PGOHUM00000293987 HGNC:30428 +HGNC:11303 SRP72 signal recognition particle 72 protein-coding gene gene with protein product Approved 4q12 04q12 signal recognition particle 72kDa "Tetratricopeptide repeat domain containing|Signal recognition particle" "769|1876" 1991-12-05 2016-06-22 2021-05-26 6731 ENSG00000174780 OTTHUMG00000128843 uc003hbv.4 AF069765 NM_001267722 "CCDS58898|CCDS3506" O76094 "9224693|9857079" MGI:1333795 RGD:1564787 LRG_1151|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1151.xml 602122 317739 HGNC:11303 "ENST00000642900.1|NM_006947.4" HGNC:11303 +HGNC:31095 SRP72P1 signal recognition particle 72 pseudogene 1 pseudogene pseudogene Approved 18q21.1 18q21.1 signal recognition particle 72kDa pseudogene 1 2004-06-09 2016-06-22 2020-04-20 100420752 ENSG00000265182 OTTHUMG00000179681 NG_026292 PGOHUM00000294660 HGNC:31095 +HGNC:31096 SRP72P2 signal recognition particle 72 pseudogene 2 pseudogene pseudogene Approved 6q25.3 06q25.3 dJ274L14.2 signal recognition particle 72kDa pseudogene 2 2004-06-09 2016-06-22 2020-04-20 153932 ENSG00000188451 OTTHUMG00000015907 NG_001558 PGOHUM00000243430 HGNC:31096 +HGNC:11305 SRPK1 SRSF protein kinase 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 SFRSK1 "SR protein kinase 1|serine/arginine-rich splicing factor kinase 1" SFRS protein kinase 1 1998-03-02 2010-06-23 2014-11-19 6732 ENSG00000096063 OTTHUMG00000014583 uc003olj.4 U09564 NM_003137 CCDS47415 Q96SB4 "8208298|10198174" MGI:106908 RGD:1308272 601939 objectId:2208 HGNC:11305 "ENST00000373825.7|NM_003137.5" +HGNC:11306 SRPK2 SRSF protein kinase 2 protein-coding gene gene with protein product Approved 7q22.3 07q22.3 SFRSK2 "SR protein kinase 2|serine/arginine-rich splicing factor kinase 2" SFRS protein kinase 2 1998-03-02 2010-06-23 2016-10-05 6733 ENSG00000135250 OTTHUMG00000157405 uc003vcu.5 U88666 NM_182691 "CCDS34724|CCDS5735" P78362 "8208298|9472028" MGI:1201408 RGD:1305107 602980 objectId:2209 HGNC:11306 "ENST00000393651.8|NM_182692.3" +HGNC:30303 SRPK2P SRSF protein kinase 2 pseudogene pseudogene pseudogene Approved 8q12.3 08q12.3 SRPK2ps SFRS protein kinase 2 pseudogene 2005-03-17 2010-06-23 2014-11-19 100419416 ENSG00000253431 OTTHUMG00000164363 NG_026032 PGOHUM00000249362 HGNC:30303 +HGNC:11402 SRPK3 SRSF protein kinase 3 protein-coding gene gene with protein product Approved Xq28 Xq28 MSSK1 STK23 "serine/threonine kinase 23|SFRS protein kinase 3" 1999-12-01 2006-08-17 2010-06-23 2020-04-02 26576 ENSG00000184343 OTTHUMG00000024207 uc004fil.4 AF027406 NM_014370 "CCDS55537|CCDS55538|CCDS35441" Q9UPE1 16140986 MGI:1891338 RGD:727856 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SRPK3 301002 objectId:2210 HGNC:11402 "ENST00000370101.8|NM_014370.4" HGNC:11402 +HGNC:11307 SRPRA SRP receptor subunit alpha protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "SRP-alpha|Sralpha|SR-alpha" SRPR signal recognition particle receptor (docking protein) 2001-06-22 2015-11-20 2018-04-23 2018-04-23 6734 ENSG00000182934 OTTHUMG00000165826 uc001qdh.4 BC001162 NM_003139 "CCDS31717|CCDS53722" P08240 "3340536|1312991" MGI:1914648 RGD:1311504 182180 HGNC:11307 "ENST00000332118.11|NM_003139.4" HGNC:11307 +HGNC:24085 SRPRB SRP receptor subunit beta protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "APMCF1|SR-beta" signal recognition particle receptor, B subunit 2004-01-29 2018-04-23 2018-04-23 58477 ENSG00000144867 OTTHUMG00000159753 uc003epx.2 AK075531 NM_001379313 CCDS3081 Q9Y5M8 "7844142|10859309" MGI:102964 RGD:1304698 616883 HGNC:24085 "ENST00000678299.1|NM_001379313.1" +HGNC:11309 SRPX sushi repeat containing protein X-linked protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 ETX1 "sushi-repeat-containing protein, X chromosome|sushi-repeat-containing protein, X-linked" Sushi domain containing 1179 1998-09-14 2018-04-26 2020-04-02 8406 ENSG00000101955 OTTHUMG00000021362 uc004ddy.3 U78093 NM_006307 "CCDS55402|CCDS55401|CCDS14245|CCDS55400" P78539 "8634708|8634709" MGI:1858306 RGD:70950 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SRPX 300187 471150 HGNC:11309 "ENST00000378533.4|NM_006307.5" +HGNC:30668 SRPX2 sushi repeat containing protein X-linked 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 SRPUL sushi-repeat-containing protein, X-linked 2 Sushi domain containing 1179 2004-06-25 2018-04-26 2021-05-26 27286 ENSG00000102359 OTTHUMG00000022003 uc004egb.4 AF393649 NM_014467 CCDS14471 O60687 9864177 MGI:1916042 RGD:1562444 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SRPX2 300642 119862 HGNC:30668 "ENST00000373004.5|NM_014467.3" HGNC:30668 +HGNC:14398 SRR serine racemase protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "ILV1|ISO1" 2001-01-16 2016-10-05 63826 ENSG00000167720 OTTHUMG00000090583 uc002fue.2 AF169974 NM_021947 CCDS11017 Q9GZT4 "17067558|15953485|15193426|11054547" MGI:1351636 RGD:735094 606477 5.1.1.18 HGNC:14398 "ENST00000344595.10|NM_021947.3" +HGNC:33910 SRRD SRR1 domain containing protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "HC/HCC|SRR1L" hepatocellular carcinoma complicating hemochromatosis 2007-12-05 2014-11-19 402055 ENSG00000100104 OTTHUMG00000150885 uc010gve.4 BC066962 NM_001013694 CCDS42995 Q9UH36 MGI:1917368 RGD:1562579 602254 HGNC:33910 "ENST00000215917.11|NM_001013694.3" +HGNC:16638 SRRM1 serine and arginine repetitive matrix 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SRM160|POP101|MGC39488" "Ser/Arg-related nuclear matrix protein|plenty of prolines 101-like" serine/arginine repetitive matrix 1 2001-09-24 2016-03-10 2016-10-05 10250 ENSG00000133226 OTTHUMG00000003320 uc001bjm.4 AF048977 NM_005839 CCDS255 Q8IYB3 9531537 MGI:1858303 RGD:1311258 605975 HGNC:16638 "ENST00000323848.14|NM_005839.4" +HGNC:31861 SRRM1P1 serine/arginine repetitive matrix 1 pseudogene 1 pseudogene pseudogene Approved 8q24.21 08q24.21 "SRRM1L|SRRM1P" "serine/arginine repetitive matrix 1-like|serine/arginine repetitive matrix 1 pseudogene" 2004-12-01 2010-07-07 2010-07-07 2010-07-07 401475 NG_011412 HGNC:31861 +HGNC:38163 SRRM1P2 serine/arginine repetitive matrix 1 pseudogene 2 pseudogene pseudogene Approved 3p12.1 03p12.1 2010-04-22 2014-11-19 100420834 ENSG00000242195 OTTHUMG00000158955 NG_022252 PGOHUM00000238089 HGNC:38163 +HGNC:38164 SRRM1P3 serine/arginine repetitive matrix 1 pseudogene 3 pseudogene pseudogene Approved Xq26.3 Xq26.3 2010-04-22 2014-11-19 100130190 ENSG00000237307 OTTHUMG00000022520 NG_022643 PGOHUM00000241573 HGNC:38164 +HGNC:16639 SRRM2 serine/arginine repetitive matrix 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SRm300|SRL300|KIAA0324|Cwc21" "NTC associated proteins|Spliceosomal C complex|Spliceosomal P complex" "1498|1510|1516" 2001-09-24 2015-08-26 23524 ENSG00000167978 OTTHUMG00000177358 uc002crk.3 AF201422 NM_016333 CCDS32373 Q9UQ35 "10668804|11004489" MGI:1923206 RGD:1310163 606032 HGNC:16639 "ENST00000301740.13|NM_016333.4" +HGNC:44162 SRRM2-AS1 SRRM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 SRRM2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100128788 ENSG00000205913 OTTHUMG00000177357 uc010uwg.2 AK056063 NR_027274 SRRM2-AS1 HGNC:44162 +HGNC:26729 SRRM3 serine/arginine repetitive matrix 3 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 FLJ37078 2009-09-21 2015-09-08 222183 ENSG00000177679 OTTHUMG00000130489 uc032ztw.2 AK092590 NM_001110199 A6NNA2 MGI:1920309 RGD:1587868 HGNC:26729 "ENST00000611745.2|NM_001110199.3" +HGNC:29389 SRRM4 serine/arginine repetitive matrix 4 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 nSR100 neural-specific SR-related protein of 100 kDa KIAA1853 KIAA1853 2006-01-13 2009-09-21 2009-09-21 2009-09-22 84530 ENSG00000139767 OTTHUMG00000168928 uc001txa.2 AB058756 NM_194286 CCDS44994 A7MD48 19737518 MGI:1916205 RGD:1560213 613103 HGNC:29389 "ENST00000267260.5|NM_194286.4" +HGNC:37248 SRRM5 serine/arginine repetitive matrix 5 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 2009-09-22 2015-09-08 100170229 ENSG00000226763 OTTHUMG00000165480 uc002oxb.5 AK297891 NM_001145641 CCDS46095 B3KS81 RGD:2323012 HGNC:37248 "ENST00000417606.3|NM_001145641.2" +HGNC:24101 SRRT serrate, RNA effector molecule protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "Asr2|serrate|ARS2" arsenite resistance protein serrate RNA effector molecule homolog (Arabidopsis) 2009-03-02 2014-04-14 2016-10-05 51593 ENSG00000087087 OTTHUMG00000157031 uc032zzv.2 NM_015908 "CCDS47665|CCDS47666|CCDS34709|CCDS47667" Q9BXP5 "11239002|11230166" MGI:1933527 RGD:1591241 614469 HGNC:24101 "ENST00000611405.5|NM_015908.6" +HGNC:10780 SRSF1 serine and arginine rich splicing factor 1 protein-coding gene gene with protein product Approved 17q22 17q22 "ASF|SF2|SRp30a|SF2p33|MGC5228" "splicing factor 2|pre-mRNA-splicing factor SF2, P33 subunit|alternate splicing factor|SR splicing factor 1" SFRS1 "splicing factor, arginine/serine-rich 1|serine/arginine-rich splicing factor 1" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2016-06-06 6426 ENSG00000136450 OTTHUMG00000178781 uc002ivi.4 NM_006924 "CCDS58580|CCDS11600" Q07955 "8530103|20516191" MGI:98283 RGD:1587490 600812 HGNC:10780 "ENST00000258962.5|NM_006924.5" +HGNC:39417 SRSF1P1 serine and arginine rich splicing factor 1 pseudogene 1 pseudogene pseudogene Approved 13q21.33 13q21.33 serine/arginine-rich splicing factor 1 pseudogene 1 2010-12-03 2016-06-06 2016-06-06 100128625 ENSG00000224640 OTTHUMG00000017054 NG_011455 HGNC:39417 +HGNC:10783 SRSF2 serine and arginine rich splicing factor 2 protein-coding gene gene with protein product Approved 17q25.2 17q25.2 "SC-35|SC35|PR264|SFRS2A" SR splicing factor 2 SFRS2 "splicing factor, arginine/serine-rich 2|serine/arginine-rich splicing factor 2" "RNA binding motif containing|Serine and arginine rich splicing factors|MicroRNA protein coding host genes" "725|737|1691" 1993-09-17 2010-06-22 2016-06-06 2021-04-13 6427 ENSG00000161547 OTTHUMG00000177547 uc002jsy.5 M90104 NM_003016 CCDS11749 Q01130 "8530103|20516191" MGI:98284 RGD:1359422 LRG_640|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_640.xml SRSF2 600813 471152 HGNC:10783 "ENST00000359995.10|NM_001195427.2" +HGNC:54922 SRSF2P1 SRSF2 pseudogene 1 pseudogene pseudogene Approved Xp21.1 Xp21.1 2020-04-24 2020-04-24 392439 ENSG00000236072 NG_022653 +HGNC:10785 SRSF3 serine and arginine rich splicing factor 3 protein-coding gene gene with protein product Approved 6p21.31-p21.2 06p21.31-p21.2 SRp20 SFRS3 "splicing factor, arginine/serine-rich 3|serine/arginine-rich splicing factor 3" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2018-02-13 6428 ENSG00000112081 OTTHUMG00000014599 uc003omj.4 L10838 NM_003017 CCDS4823 P84103 "1577277|20516191" MGI:98285 RGD:1309233 SRSF3 603364 HGNC:10785 "ENST00000373715.11|NM_003017.5" +HGNC:54691 SRSF3P1 SRSF3 pseudogene 1 pseudogene pseudogene Approved 11p15.1 11p15.1 2019-11-28 2019-11-28 100506569 ENSG00000257043 NG_028064 +HGNC:54692 SRSF3P2 SRSF3 pseudogene 2 pseudogene pseudogene Approved 8q22.1 08q22.1 2019-11-28 2019-11-28 100500773 ENSG00000254079 NR_036611 +HGNC:54693 SRSF3P4 SRSF3 pseudogene 4 pseudogene pseudogene Approved 2q12.2 02q12.2 2019-11-28 2019-11-28 100131114 ENSG00000224061 +HGNC:54694 SRSF3P5 SRSF3 pseudogene 5 pseudogene pseudogene Approved 2q12.3 02q12.3 2019-11-28 2019-11-28 100128964 ENSG00000235325 +HGNC:54695 SRSF3P6 SRSF3 pseudogene 6 pseudogene pseudogene Approved 2q13 02q13 2019-11-28 2019-11-28 107985790 ENSG00000233307 +HGNC:10786 SRSF4 serine and arginine rich splicing factor 4 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 SRP75 SR splicing factor 4 SFRS4 "splicing factor, arginine/serine-rich 4|serine/arginine-rich splicing factor 4" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2016-06-06 6429 ENSG00000116350 OTTHUMG00000003663 uc001bro.4 BC002781 NM_005626 CCDS333 Q08170 "8321209|20516191" MGI:1890577 RGD:1561347 601940 HGNC:10786 "ENST00000373795.7|NM_005626.5" +HGNC:10787 SRSF5 serine and arginine rich splicing factor 5 protein-coding gene gene with protein product Approved 14q24 14q24 "SRP40|HRS" SR splicing factor 5 SFRS5 "splicing factor, arginine/serine-rich 5|serine/arginine-rich splicing factor 5" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2016-06-06 6430 ENSG00000100650 OTTHUMG00000171235 uc001xll.4 AF020307 NM_001039465 CCDS32109 Q13243 "7686911|20516191" MGI:98287 RGD:3664 600914 HGNC:10787 "ENST00000557154.6|NM_001320214.2" +HGNC:10788 SRSF6 serine and arginine rich splicing factor 6 protein-coding gene gene with protein product Approved 20q13.11 20q13.11 "SRP55|B52" "pre-mRNA splicing factor SRP55|SR splicing factor 6" SFRS6 "splicing factor, arginine/serine-rich 6|serine/arginine-rich splicing factor 6" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1993-09-17 2010-06-22 2016-06-06 2016-10-05 6431 ENSG00000124193 OTTHUMG00000032502 uc010zwg.3 U30883 NM_006275 CCDS13318 Q13247 "7556075|20516191" MGI:1915246 RGD:1359241 601944 HGNC:10788 "ENST00000244020.5|NM_006275.6" +HGNC:54946 SRSF6P1 SRSF6 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-05-01 2020-05-01 100128442 ENSG00000215286 NG_022660 +HGNC:54947 SRSF6P2 SRSF6 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2020-05-01 2020-05-01 644422 ENSG00000235554 NG_022444 +HGNC:10789 SRSF7 serine and arginine rich splicing factor 7 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 "9G8|ZCRB2|HSSG1|AAG3|RBM37|ZCCHC20" SR splicing factor 7 SFRS7 "splicing factor, arginine/serine-rich 7 (35kD)|splicing factor, arginine/serine-rich 7, 35kDa|serine/arginine-rich splicing factor 7" "Zinc fingers CCHC-type|RNA binding motif containing|Serine and arginine rich splicing factors" "74|725|737" 1994-08-31 2010-06-22 2016-06-06 2016-06-06 6432 ENSG00000115875 OTTHUMG00000102076 uc002rqz.3 L41887 NM_001031684 "CCDS86832|CCDS33183|CCDS56115" Q16629 "8013463|20516191" MGI:1926232 RGD:1307425 600572 HGNC:10789 "ENST00000313117.11|NM_001031684.3" +HGNC:16988 SRSF8 serine and arginine rich splicing factor 8 protein-coding gene gene with protein product Approved 11q21 11q21 SRP46 SR splicing factor 8 SFRS2B "splicing factor, arginine/serine-rich 2B|serine/arginine-rich splicing factor 8" Serine and arginine rich splicing factors 737 2006-08-04 2010-06-22 2016-06-06 2016-06-06 10929 ENSG00000263465 OTTHUMG00000188534 uc031ybj.2 AF031166 NM_032102 CCDS73370 Q9BRL6 "9671500|20516191" 603269 HGNC:16988 "ENST00000587424.3|NM_032102.4" +HGNC:55910 SRSF8BP serine and arginine rich splicing factor 8B, pseudogene pseudogene pseudogene Approved 11q21 11q21 2021-10-07 2021-10-07 643118 ENSG00000256779 NG_030282 +HGNC:55911 SRSF8CP serine and arginine rich splicing factor 8C, pseudogene pseudogene pseudogene Approved 7p12.3 07p12.3 2021-10-07 2021-10-07 2021-10-07 647145 ENSG00000214754 NG_006620 +HGNC:10791 SRSF9 serine and arginine rich splicing factor 9 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 SRp30c SR splicing factor 9 SFRS9 "splicing factor, arginine/serine-rich 9|serine/arginine-rich splicing factor 9" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1998-11-19 2010-06-22 2016-06-06 2016-06-06 8683 ENSG00000111786 OTTHUMG00000047790 uc001tyi.4 U30825 NM_003769 CCDS9199 Q13242 "7556075|20516191" MGI:104896 RGD:1309495 601943 HGNC:10791 "ENST00000229390.8|NM_003769.3" +HGNC:10792 SRSF9P1 serine and arginine rich splicing factor 9 pseudogene 1 pseudogene pseudogene Approved 21q22.12 21q22.12 SFRS9P1 "splicing factor, arginine/serine-rich 9 pseudogene 1|serine/arginine-rich splicing factor 9 pseudogene 1" 2000-05-23 2010-06-23 2016-06-06 2016-06-06 54021 ENSG00000214867 OTTHUMG00000086621 NG_000902 PGOHUM00000239077 HGNC:10792 +HGNC:16713 SRSF10 serine and arginine rich splicing factor 10 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "TASR1|TASR2|SRp38|SRrp40|SFRS13|PPP1R149" "splicing factor, arginine/serine-rich 13|SR splicing factor 10|protein phosphatase 1, regulatory subunit 149" "FUSIP2|FUSIP1|SFRS13A" "FUS-interacting protein (serine-arginine rich) 2|FUS interacting protein (serine/arginine-rich) 1|splicing factor, arginine/serine-rich 13A|neural-salient SR protein|serine/arginine-rich splicing factor 10" "Protein phosphatase 1 regulatory subunits|RNA binding motif containing|Serine and arginine rich splicing factors" "694|725|737" 2001-10-19 2010-06-22 2016-06-06 2016-06-06 10772 ENSG00000188529 OTTHUMG00000013893 uc057dig.1 AF047448 NM_006625 "CCDS53283|CCDS53280|CCDS53281|CCDS53282|CCDS72728|CCDS30629|CCDS30630" O75494 "11891055|20516191" MGI:1333805 RGD:1311067 605221 HGNC:16713 "ENST00000492112.3|NM_054016.4" +HGNC:31002 SRSF10P1 serine and arginine rich splicing factor 10 pseudogene 1 pseudogene pseudogene Approved 18q21.2 18q21.2 HsT2687 "FUSIP1P|SFRS13AP1" "FUS interacting protein (serine/arginine-rich) 1 pseudogene|splicing factor, arginine/serine-rich 13A 1 pseudogene|serine/arginine-rich splicing factor 10 pseudogene 1" 2004-01-05 2010-06-22 2016-06-06 2017-10-26 100130799 ENSG00000267717 OTTHUMG00000180041 NG_030046 PGOHUM00000294661 HGNC:31002 +HGNC:24823 SRSF10P2 serine and arginine rich splicing factor 10 pseudogene 2 pseudogene pseudogene Approved 20p12.3 20p12.3 "FUSIP1P2|SFRS13AP2" "FUS interacting protein (serine/arginine-rich) 1 pseudogene 2|splicing factor, arginine/serine-rich 13A pseudogene 2|serine/arginine-rich splicing factor 10 pseudogene 2" 2007-07-31 2010-06-22 2016-06-06 2016-06-06 171472 NG_001017 HGNC:24823 +HGNC:10782 SRSF11 serine and arginine rich splicing factor 11 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "p54|NET2" SR splicing factor 11 SFRS11 "splicing factor, arginine/serine-rich 11|serine/arginine-rich splicing factor 11" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 1999-03-09 2010-06-22 2016-06-06 2016-06-06 9295 ENSG00000116754 OTTHUMG00000009342 uc001des.4 M74002 NM_004768 "CCDS53332|CCDS647" Q05519 "1896467|20516191" MGI:1916457 RGD:1559953 602010 HGNC:10782 "ENST00000370949.2|NM_001350605.2" +HGNC:49884 SRSF11P1 serine and arginine rich splicing factor 11 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 serine/arginine-rich splicing factor 11 pseudogene 1 2014-03-18 2016-06-06 2016-06-06 100421296 NG_024068 PGOHUM00000239698 HGNC:49884 +HGNC:21220 SRSF12 serine and arginine rich splicing factor 12 protein-coding gene gene with protein product Approved 6q15 06q15 "SRrp35|SFRS19" "splicing factor, arginine/serine-rich 19|SR splicing factor 12" SFRS13B "splicing factor, arginine/serine-rich 13B|serine/arginine-rich splicing factor 12" "RNA binding motif containing|Serine and arginine rich splicing factors" "725|737" 2009-09-09 2010-06-22 2016-06-06 2016-10-05 135295 ENSG00000154548 OTTHUMG00000015192 uc063qaq.1 AF449428 NM_080743 CCDS47459 Q8WXF0 "11684676|20516191" MGI:2661424 RGD:1561162 HGNC:21220 "ENST00000452027.3|NM_080743.5" +HGNC:16132 SRXN1 sulfiredoxin 1 protein-coding gene gene with protein product Approved 20p13 20p13 "Npn3|SRX1|YKL086W|dJ850E9.2" C20orf139 "chromosome 20 open reading frame 139|sulfiredoxin 1 homolog (S. cerevisiae)" 2001-07-17 2005-05-10 2010-06-24 2014-11-19 140809 ENSG00000271303 OTTHUMG00000031644 uc002wea.5 AF075053 NM_080725 CCDS13005 Q9BYN0 MGI:104971 RGD:1307332 617583 HGNC:16132 "ENST00000381962.4|NM_080725.3" +HGNC:11311 SRY sex determining region Y protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 TDF testis-determining factor SRY-box transcription factors 757 1990-09-10 2021-05-26 6736 ENSG00000184895 OTTHUMG00000036084 uc004fqg.3 NM_003140 CCDS14772 Q05066 18454134 MGI:98660 RGD:3759 480000 119865 HGNC:11311 "ENST00000383070.2|NM_003140.3" HGNC:11311 +HGNC:11340 SS18 SS18 subunit of BAF chromatin remodeling complex protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "SYT|SMARCL1" SSXT "synovial sarcoma translocation, chromosome 18|SS18, nBAF chromatin remodeling complex subunit" "BAF complex|GBAF complex" "1604|1606" 1995-03-06 2019-01-25 2021-07-23 6760 ENSG00000141380 OTTHUMG00000179425 uc002kvm.4 X79201 NM_001007559 "CCDS54183|CCDS32807|CCDS77168" Q15532 "8152806|7951320|16484776" MGI:107708 RGD:1311919 SS18 600192 119868 HGNC:11340 "ENST00000415083.7|NM_001007559.3" +HGNC:15592 SS18L1 SS18L1 subunit of BAF chromatin remodeling complex protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "KIAA0693|CREST|SMARCL2" calcium-responsive transactivator "synovial sarcoma translocation gene on chromosome 18-like 1|SS18L1, nBAF chromatin remodeling complex subunit" BAF complex 1604 2001-04-26 2019-01-25 2021-07-23 26039 ENSG00000184402 OTTHUMG00000032902 uc002ycb.4 AB014593 NM_001301778 CCDS13491 O75177 MGI:2444061 RGD:621847 SS18L1 606472 HGNC:15592 "ENST00000331758.8|NM_198935.3" HGNC:15592 +HGNC:15593 SS18L2 SS18 like 2 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 KIAA-iso SYT homolog 2 synovial sarcoma translocation gene on chromosome 18-like 2 2001-04-26 2016-04-29 2016-10-05 51188 ENSG00000008324 OTTHUMG00000131794 uc062iqb.1 AF201950 NM_016305 CCDS2701 Q9UHA2 11435705 MGI:1349474 RGD:1590139 606473 HGNC:15593 "ENST00000011691.6|NM_001370300.1" +HGNC:44965 SS18L2P1 SS18 like 2 pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 1 2012-12-20 2016-04-29 2016-04-29 646213 ENSG00000232525 OTTHUMG00000017946 NG_005608 PGOHUM00000238720 HGNC:44965 +HGNC:44966 SS18L2P2 SS18 like 2 pseudogene 2 pseudogene pseudogene Approved 18q21.2 18q21.2 synovial sarcoma translocation gene on chromosome 18-like 2 pseudogene 2 2012-12-20 2016-04-29 2016-04-29 724101 ENSG00000266201 OTTHUMG00000179693 NG_005609 PGOHUM00000234931 HGNC:44966 +HGNC:11316 SSB small RNA binding exonuclease protection factor La protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "LARP3|La|La/SSB" "La ribonucleoprotein domain family, member 3|Lupus La protein|La autoantigen" "Sjogren syndrome antigen B (autoantigen La)|Sjogren syndrome antigen B" "La ribonucleoproteins|RNA binding motif containing" "625|725" 1990-09-10 2005-06-16 2019-01-17 2019-08-28 6741 ENSG00000138385 OTTHUMG00000132212 uc061piv.1 NM_003142 CCDS2237 P05455 "2468131|1692037|28782243" MGI:98423 RGD:620804 109090 HGNC:11316 "ENST00000260956.9|NM_003142.5" +HGNC:54972 SSBL2P small RNA binding exonuclease protection factor La like 2, pseudogene pseudogene pseudogene Approved Xq11.1 Xq11.1 SSB like 2, pseudogene 2020-05-14 2021-03-25 2021-03-25 653588 ENSG00000236852 NG_022663 +HGNC:54984 SSBL3P small RNA binding exonuclease protection factor La like 3, pseudogene pseudogene pseudogene Approved 12q12 12q12 SSB like 3, pseudogene 2020-05-14 2021-03-25 2021-03-25 100533757 ENSG00000257572 NG_028766 +HGNC:54985 SSBL4P small RNA binding exonuclease protection factor La like 4, pseudogene pseudogene pseudogene Approved 1q21.1 01q21.1 SSB like 4, pseudogene 2020-05-14 2021-03-25 2021-03-25 441904 ENSG00000230832 NG_005551 +HGNC:54986 SSBL5P small RNA binding exonuclease protection factor La like 5, pseudogene pseudogene pseudogene Approved 7p21.3 07p21.3 SSB like 5, pseudogene 2020-05-14 2021-03-25 2021-03-25 389465 ENSG00000236048 NG_008696 +HGNC:11317 SSBP1 single stranded DNA binding protein 1 protein-coding gene gene with protein product Approved 7q34 07q34 "SSBP|mtSSB" "single-stranded DNA-binding protein|single-stranded DNA binding protein 1|single-stranded DNA binding protein 1, mitochondrial" 1994-09-29 2016-03-18 2016-03-18 6742 ENSG00000106028 OTTHUMG00000157572 uc064iri.1 M94556 NM_003143 CCDS5866 Q04837 7789991 MGI:1920040 RGD:3760 600439 HGNC:11317 "ENST00000265304.11|NM_003143.3" HGNC:11317 +HGNC:15831 SSBP2 single stranded DNA binding protein 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 HSPC116 "single-stranded DNA-binding protein 2|single-stranded DNA binding protein 2" Wnt enhanceosome complex 1677 2001-06-14 2016-03-18 2016-03-18 23635 ENSG00000145687 OTTHUMG00000119039 uc003kho.5 AF077048 NM_012446 "CCDS58960|CCDS75268|CCDS58963|CCDS58962|CCDS58961|CCDS4056" P81877 "11230166|11042152" MGI:1914220 RGD:1562968 607389 HGNC:15831 "ENST00000320672.9|NM_012446.5" +HGNC:15674 SSBP3 single stranded DNA binding protein 3 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "CSDP|SSDP|FLJ10355|SSDP1" single-stranded DNA-binding protein 3 Wnt enhanceosome complex 1677 2002-01-29 2001-11-28 2015-09-09 23648 ENSG00000157216 OTTHUMG00000008264 uc001cxe.5 NM_018070 "CCDS30726|CCDS591|CCDS590" Q9BWW4 12079286 MGI:1919725 RGD:621502 607390 HGNC:15674 +HGNC:32328 SSBP3-AS1 SSBP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 MSTP128 C1orf191 chromosome 1 open reading frame 191 Antisense RNAs 1987 2005-10-11 2013-08-29 2013-08-29 2014-11-18 619518 ENSG00000198711 OTTHUMG00000008365 AF176918 NR_103541 Q7Z2R9 SSBP3-AS1 HGNC:32328 +HGNC:54577 SSBP3P1 SSBP3 pseudogene 1 pseudogene pseudogene Approved 7p14.1 07p14.1 SSBL3P1 2019-10-16 2021-03-25 2021-03-25 100129321 ENSG00000233225 NG_022555 +HGNC:54579 SSBP3P2 SSBP3 pseudogene 2 pseudogene pseudogene Approved 2q21.1 02q21.1 2019-10-16 2019-10-16 401002 ENSG00000224425 NG_021521 +HGNC:15676 SSBP4 single stranded DNA binding protein 4 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 Wnt enhanceosome complex 1677 2002-01-29 2020-04-01 170463 ENSG00000130511 OTTHUMG00000183362 uc002niy.4 NM_032627 "CCDS12378|CCDS32960" Q9BWG4 12079286 MGI:1924150 RGD:1359619 607391 HGNC:15676 "ENST00000270061.12|NM_032627.5" +HGNC:14461 SSC4D scavenger receptor cysteine rich family member with 4 domains protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "SRCRB-S4D|S4D-SRCRB" scavenger receptor cysteine-rich protein SRCRB-S4D SRCRB4D "scavenger receptor cysteine rich domain containing, group B (4 domains)|scavenger receptor cysteine rich family, 4 domains" "Scavenger receptors|Scavenger receptor cysteine rich domain containing" "1253|1404" 2002-01-18 2014-07-09 2016-04-29 2016-04-29 136853 ENSG00000146700 OTTHUMG00000022864 NM_080744 CCDS5585 Q8WTU2 12466895 MGI:1924709 RGD:1306970 607639 HGNC:14461 "ENST00000275560.4|NM_080744.2" +HGNC:26641 SSC5D scavenger receptor cysteine rich family member with 5 domains protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ35258|S5D-SRCRB" soluble scavenger with 5 domains scavenger receptor cysteine rich domain containing (5 domains) "Scavenger receptors|Scavenger receptor cysteine rich domain containing" "1253|1404" 2011-01-28 2016-04-29 2018-11-15 284297 ENSG00000179954 OTTHUMG00000180855 uc002qlg.5 NM_001144950 "CCDS59424|CCDS46196" A1L4H1 19535143 MGI:3606211 RGD:1565772 618194 HGNC:26641 "ENST00000389623.11|NM_001144950.2" +HGNC:30579 SSH1 slingshot protein phosphatase 1 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "KIAA1298|SSH1L" slingshot homolog 1 (Drosophila) "Slingshot protein phosphatases|MicroRNA protein coding host genes" "898|1691" 2004-06-15 2013-03-05 2019-02-13 54434 ENSG00000084112 OTTHUMG00000169371 uc001tnm.4 BC062341 NM_018984 "CCDS9121|CCDS53825|CCDS55882" Q8WYL5 "10718198|11832213" MGI:2686240 RGD:1306038 606778 HGNC:30579 "ENST00000326495.10|NM_018984.4" +HGNC:30580 SSH2 slingshot protein phosphatase 2 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 KIAA1725 slingshot homolog 2 (Drosophila) Slingshot protein phosphatases 898 2004-06-15 2013-03-05 2014-11-18 85464 ENSG00000141298 OTTHUMG00000132752 uc002heo.3 AB072359 NM_033389 "CCDS74024|CCDS11253" Q76I76 "11832213|11214970" MGI:2679255 RGD:1309389 606779 471154 HGNC:30580 "ENST00000540801.6|NM_001282129.2" +HGNC:30581 SSH3 slingshot protein phosphatase 3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "FLJ20515|FLJ10928" slingshot homolog 3 (Drosophila) Slingshot protein phosphatases 898 2004-06-15 2013-03-05 2016-10-05 54961 ENSG00000172830 OTTHUMG00000167105 uc001okj.4 AF085851 NM_018276 CCDS8157 Q8TE77 11832213 MGI:2683546 RGD:1308679 606780 HGNC:30581 "ENST00000308127.9|NM_017857.4" +HGNC:29580 SSMEM1 serine rich single-pass membrane protein 1 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 FLJ40316 C7orf45 chromosome 7 open reading frame 45 2006-08-21 2013-03-08 2016-06-06 2021-04-30 136263 ENSG00000165120 OTTHUMG00000157844 uc003vpp.4 AK097635 NM_145268 CCDS5816 Q8WWF3 32301969 MGI:1922897 RGD:1559502 HGNC:29580 "ENST00000297819.4|NM_145268.4" +HGNC:11321 SSNA1 SS nuclear autoantigen 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "NA14|N14" "Sjogren's syndrome nuclear autoantigen 1|Sjogren syndrome nuclear autoantigen 1" 1999-12-08 2016-05-19 2016-05-19 8636 ENSG00000176101 OTTHUMG00000020982 uc004cls.3 Z96932 NM_003731 CCDS7034 O43805 9430706 MGI:1915725 RGD:1310259 610882 HGNC:11321 "ENST00000322310.10|NM_003731.3" +HGNC:11322 SSPN sarcospan protein-coding gene gene with protein product Approved 12p12.1 12p12.1 "SPN1|SPN2" KRAG Kras oncogene-associated gene 1999-03-08 2012-03-14 2021-04-13 8082 ENSG00000123096 OTTHUMG00000169167 uc001rhe.4 AF016028 NM_005086 "CCDS44850|CCDS8707" Q14714 "9395445|8661122" MGI:1353511 RGD:1559723 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SSPN|LRG_209|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_209.xml" 601599 HGNC:11322 "ENST00000242729.7|NM_005086.5" +HGNC:21998 SSPOP SCO-spondin, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 "SCO-spondin|KIAA0543|FLJ36112" "subcommissural organ spondin|SCO protein, thrombospondin domain containing" SSPO "SCO-spondin homolog (Bos taurus)|SCO-spondin" 2005-11-25 2020-01-17 2020-01-17 2020-09-01 23145 ENSG00000197558 OTTHUMG00000157884 uc064jau.1 AK093431 NR_163594 A2VEC9 "8743952|11008217" MGI:2674311 RGD:1549716 617356 HGNC:21998 +HGNC:11323 SSR1 signal sequence receptor subunit 1 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 TRAPA translocon-associated protein alpha signal sequence receptor, alpha Minor histocompatibility antigens 870 1995-01-16 2016-05-05 2016-05-05 6745 ENSG00000124783 OTTHUMG00000014202 uc003mxf.6 NM_001292008 "CCDS78109|CCDS4499" P43307 MGI:105082 RGD:1310961 600868 HGNC:11323 "ENST00000244763.9|NM_003144.5" +HGNC:39273 SSR1P1 signal sequence receptor subunit 1 pseudogene 1 pseudogene pseudogene Approved 6q25.1 06q25.1 signal sequence receptor, alpha pseudogene 1 2010-11-24 2016-05-05 2016-05-05 100420476 ENSG00000220598 OTTHUMG00000015819 NG_025880 PGOHUM00000243417 HGNC:39273 +HGNC:39274 SSR1P2 signal sequence receptor subunit 1 pseudogene 2 pseudogene pseudogene Approved 13q22.2 13q22.2 signal sequence receptor, alpha pseudogene 2 2010-11-24 2016-05-05 2016-05-05 100131189 ENSG00000226665 OTTHUMG00000017084 NG_021969 PGOHUM00000248634 HGNC:39274 +HGNC:11324 SSR2 signal sequence receptor subunit 2 protein-coding gene gene with protein product Approved 1q22 01q22 "TLAP|TRAPB" translocon-associated protein beta signal sequence receptor, beta (translocon-associated protein beta) 1995-01-17 2016-05-05 2016-10-05 6746 ENSG00000163479 OTTHUMG00000017456 uc001fmx.4 BC000341 NM_003145 CCDS1126 P43308 7789174 MGI:1913506 RGD:1308365 600867 HGNC:11324 "ENST00000295702.9|NM_003145.4" +HGNC:11325 SSR3 signal sequence receptor subunit 3 protein-coding gene gene with protein product Approved 3q25.31 03q25.31 TRAPG translocon-associated protein gamma signal sequence receptor, gamma (translocon-associated protein gamma) 1997-11-04 2016-05-05 2016-05-05 6747 ENSG00000114850 OTTHUMG00000158632 uc003fau.3 BC017203 NM_007107 "CCDS77846|CCDS82865|CCDS3176" Q9UNL2 MGI:1914687 RGD:621630 606213 HGNC:11325 "ENST00000265044.7|NM_007107.5" +HGNC:11326 SSR4 signal sequence receptor subunit 4 protein-coding gene gene with protein product Approved Xq28 Xq28 TRAPD translocon-associated protein delta signal sequence receptor, delta 1997-11-04 2016-05-05 2016-05-05 6748 ENSG00000180879 OTTHUMG00000024212 uc065bwy.1 BC032351 NM_006280 CCDS14731 P51571 9286695 MGI:1099464 RGD:62034 300090 377052 HGNC:11326 "ENST00000370086.8|NM_006280.3" HGNC:11326 +HGNC:23131 SSR4P1 signal sequence receptor subunit 4 pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 "PRED90|MGC10960|PRED57" C21orf122 "chromosome 21 open reading frame 122|signal sequence receptor, delta pseudogene 1" 2003-10-01 2011-08-31 2016-05-05 2020-04-20 728039 ENSG00000235374 OTTHUMG00000090297 BC004343 NR_027292 PGOHUM00000239095 HGNC:23131 +HGNC:11327 SSRP1 structure specific recognition protein 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 FACT80 facilitates chromatin remodeling 80 kDa subunit 1994-07-21 2016-10-05 6749 ENSG00000149136 OTTHUMG00000167024 uc001njt.3 M86737 NM_003146 CCDS7952 Q08945 1372440 MGI:107912 RGD:621143 604328 HGNC:11327 "ENST00000278412.7|NM_003146.3" +HGNC:11329 SST somatostatin protein-coding gene gene with protein product Approved 3q27.3 03q27.3 "SMST|SST1" "somatostatin-14|somatostatin-28|prepro-somatostatin" Neuropeptides 1902 2001-06-22 2020-11-10 6750 ENSG00000157005 OTTHUMG00000156462 uc003frn.4 NM_001048 CCDS3288 P61278 "6126875|6142531" MGI:98326 RGD:3761 182450 ligandId:2020 HGNC:11329 "ENST00000287641.4|NM_001048.4" +HGNC:11330 SSTR1 somatostatin receptor 1 protein-coding gene gene with protein product Approved 14q13 14q13 Somatostatin receptors 257 1992-08-25 2015-08-26 6751 ENSG00000139874 OTTHUMG00000140249 uc001wul.2 NM_001049 CCDS9666 P30872 8449518 MGI:98327 RGD:3762 182451 objectId:355 HGNC:11330 "ENST00000267377.3|NM_001049.3" +HGNC:11331 SSTR2 somatostatin receptor 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 Somatostatin receptors 257 1992-08-25 2016-10-25 6752 ENSG00000180616 OTTHUMG00000178343 uc002jje.4 NM_001050 CCDS11691 P30874 8449518 MGI:98328 RGD:3763 182452 objectId:356 HGNC:11331 "ENST00000357585.4|NM_001050.3" +HGNC:11332 SSTR3 somatostatin receptor 3 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Somatostatin receptors 257 1992-08-25 2015-09-09 6753 ENSG00000278195 OTTHUMG00000150537 uc032qnp.2 NM_001051 CCDS13944 P32745 8449518 MGI:98329 RGD:620308 182453 objectId:357 HGNC:11332 "ENST00000610913.2|NM_001051.5" +HGNC:11333 SSTR4 somatostatin receptor 4 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 Somatostatin receptors 257 1993-07-22 2015-08-26 6754 ENSG00000132671 OTTHUMG00000032054 uc002wsr.3 NM_001052 CCDS42856 P31391 8483934 MGI:105372 RGD:3764 182454 objectId:358 HGNC:11333 "ENST00000255008.5|NM_001052.4" +HGNC:11334 SSTR5 somatostatin receptor 5 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Somatostatin receptors 257 1993-05-12 2015-08-26 6755 ENSG00000162009 OTTHUMG00000047842 uc002ckq.4 D16827 NM_001053 CCDS10429 P35346 7607700 MGI:894282 RGD:3765 182455 objectId:359 HGNC:11334 "ENST00000689027.1|NM_001172560.3" +HGNC:26502 SSTR5-AS1 SSTR5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 SSTR5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2019-06-19 146336 ENSG00000261713 OTTHUMG00000172831 uc059oui.1 AK056814 NR_027242 31196171 SSTR5-AS1 HGNC:26502 +HGNC:25016 SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase protein-coding gene gene with protein product Approved 1p36.33 01p36.33 HSPC182 "Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)|SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)" Serine/threonine phosphatases 814 2005-05-09 2015-08-13 2016-10-05 29101 ENSG00000160075 OTTHUMG00000000576 uc001agd.4 AJ276409 NM_014188 CCDS32 Q9NP77 "15125841|15659578" MGI:1916241 RGD:1307854 617680 HGNC:25016 "ENST00000291386.4|NM_014188.3" +HGNC:43620 SSU72P1 SSU72 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 1 2011-12-02 2013-10-18 2013-10-18 286528 ENSG00000226547 OTTHUMG00000022221 NG_022691 PGOHUM00000241956 HGNC:43620 +HGNC:43621 SSU72P2 SSU72 pseudogene 2 other unknown Approved 11p15.4 11p15.4 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 2 2011-12-02 2013-10-18 2019-06-28 390031 ENSG00000284306 OTTHUMG00000165696 NG_008908 PGOHUM00000257797 HGNC:43621 +HGNC:43622 SSU72P3 SSU72 pseudogene 3 other unknown Approved 11p15.4 11p15.4 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 3 2011-12-02 2013-10-18 2019-06-28 143506 ENSG00000284546 OTTHUMG00000165699 NG_008900 PGOHUM00000257869 HGNC:43622 +HGNC:43623 SSU72P4 SSU72 pseudogene 4 other unknown Approved 11p15.4 11p15.4 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 4 2011-12-02 2013-10-18 2019-06-28 441584 ENSG00000283873 OTTHUMG00000165698 NG_008912 PGOHUM00000257798 HGNC:43623 +HGNC:43624 SSU72P5 SSU72 pseudogene 5 other unknown Approved 11p15.4 11p15.4 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 5 2011-12-02 2013-10-18 2019-06-28 196120 ENSG00000284018 OTTHUMG00000165695 NG_008904 PGOHUM00000257868 HGNC:43624 +HGNC:43625 SSU72P6 SSU72 pseudogene 6 pseudogene pseudogene Approved 11p15.4 11p15.4 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 6 2011-12-02 2013-10-18 2013-10-18 643263 ENSG00000236175 OTTHUMG00000165697 NG_008911 PGOHUM00000242562 HGNC:43625 +HGNC:43626 SSU72P7 SSU72 pseudogene 7 other unknown Approved 11p15.4 11p15.4 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 7 2011-12-02 2013-10-18 2019-06-28 390033 ENSG00000284438 OTTHUMG00000165700 NG_008909 PGOHUM00000257799 HGNC:43626 +HGNC:43627 SSU72P8 SSU72 pseudogene 8 other unknown Approved 7q31.33 07q31.33 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 8 2011-12-02 2013-10-18 2019-06-28 136157 ENSG00000230268 OTTHUMG00000157318 NG_012760 PGOHUM00000250964 HGNC:43627 +HGNC:24809 SSUH2 ssu-2 homolog protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "fls485|ssu-2" C3orf32 "chromosome 3 open reading frame 32|ssu-2 homolog (C. elegans)" 2005-12-30 2012-11-05 2019-03-26 2019-03-26 51066 ENSG00000125046 OTTHUMG00000122075 uc003bqy.5 AB024705 NM_015931 CCDS58815 Q9Y2M2 "20205943|27680507" MGI:2443733 RGD:1562010 617479 HGNC:24809 "ENST00000544814.7|NM_001256748.3" HGNC:24809 +HGNC:11335 SSX1 SSX family member 1 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 CT5.1 cancer/testis antigen family 5, member 1 synovial sarcoma, X breakpoint 1 SSX family 1833 1995-07-06 2016-05-20 2020-04-02 6756 ENSG00000126752 OTTHUMG00000021488 uc004djb.2 BC001003 NM_005635 CCDS14290 Q16384 7655467 "MGI:1915235|MGI:2446771|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446775|MGI:2446777|MGI:2446778|MGI:2446779|MGI:3647394|MGI:3650385" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SSX1 SSX1 312820 119874 HGNC:11335 "ENST00000376919.4|NM_005635.4" +HGNC:11336 SSX2 SSX family member 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "HOM-MEL-40|HD21|MGC3884|MGC15364|MGC119055|CT5.2a" "sarcoma, synovial, X-chromosome-related 2|synovial sarcoma, X breakpoint 2B|synovial sarcoma, X breakpoint 2, isoform b|cancer/testis antigen family 5, member 2a" SSX synovial sarcoma, X breakpoint 2 SSX family 1833 1995-03-06 2016-05-20 2016-05-20 6757 ENSG00000241476 OTTHUMG00000022697 uc004dqz.3 Z49105 NM_003147 "CCDS14345|CCDS14344" Q16385 8840996 SSX2 300192 158446 HGNC:11336 "ENST00000337502.6|NM_175698.4" +HGNC:22263 SSX2B SSX family member 2B protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 CT5.2b cancer/testis antigen family 5, member 2b synovial sarcoma, X breakpoint 2B SSX family 1833 2007-08-03 2016-05-20 2016-05-20 727837 ENSG00000268447 OTTHUMG00000021593 uc064zil.1 NM_001164417 "CCDS48129|CCDS65267" Q16385 "MGI:1915235|MGI:2446771|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446775|MGI:2446777|MGI:2446778|MGI:2446779|MGI:2446782|MGI:3647394|MGI:3650385" HGNC:22263 "ENST00000596480.6|NM_001164417.3" +HGNC:16509 SSX2IP SSX family member 2 interacting protein protein-coding gene gene with protein product Approved 1p22.3 01p22.3 hMsd1 synovial sarcoma, X breakpoint 2 interacting protein 2001-11-12 2016-05-20 2016-09-26 117178 ENSG00000117155 OTTHUMG00000009926 uc001dkj.4 NM_014021 "CCDS53337|CCDS699" Q9Y2D8 MGI:2139150 RGD:708490 608690 HGNC:16509 "ENST00000342203.8|NM_001166293.2" +HGNC:11337 SSX3 SSX family member 3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 CT5.3 synovial sarcoma, X breakpoint 3 SSX family 1833 1999-06-10 2016-05-20 2020-04-02 10214 ENSG00000165584 OTTHUMG00000021489 uc004djd.3 U90840 NM_021014 CCDS14291 Q99909 "8697803|9378559" "MGI:1915235|MGI:2446771|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446775|MGI:2446777|MGI:2446778|MGI:2446779|MGI:3647394|MGI:3650385" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SSX3 300325 HGNC:11337 "ENST00000298396.7|NM_021014.4" +HGNC:11338 SSX4 SSX family member 4 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 CT5.4 synovial sarcoma, X breakpoint 4 SSX family 1833 1996-03-12 2016-05-20 2016-05-20 6759 ENSG00000268009 OTTHUMG00000022698 uc004djf.3 NM_005636 "CCDS35240|CCDS43934" O60224 SSX4 300326 HGNC:11338 "ENST00000595689.3|NM_005636.4" +HGNC:16880 SSX4B SSX family member 4B protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OTTHUMT00000056510 synovial sarcoma, X breakpoint 4B SSX family 1833 2005-03-22 2016-05-20 2016-05-20 548313 ENSG00000269791 OTTHUMG00000021497 uc004djh.3 NM_001034832 "CCDS35241|CCDS43935" O60224 "MGI:1915235|MGI:2446771|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446775|MGI:2446777|MGI:2446778|MGI:2446779|MGI:3647394|MGI:3650385" HGNC:16880 "ENST00000595235.6|NM_001034832.5" +HGNC:11339 SSX5 SSX family member 5 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 synovial sarcoma, X breakpoint 5 SSX family 1833 1996-03-12 2016-05-20 2020-04-02 6758 ENSG00000165583 OTTHUMG00000021471 uc004diz.1 BC016640 NM_021015 "CCDS14289|CCDS14288" O60225 "MGI:1915235|MGI:2446771|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446775|MGI:2446777|MGI:2446778|MGI:2446779|MGI:3647394|MGI:3650385" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SSX5 300327 HGNC:11339 "ENST00000347757.6|NM_175723.2" +HGNC:19652 SSX6P SSX family member 6, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 psiSSX2 "SSXP2|SSX6" "SSX family pseudogene 2|synovial sarcoma, X breakpoint 6|synovial sarcoma, X breakpoint 6 (pseudogene)" SSX family 1833 2002-11-19 2018-05-23 2016-05-20 2020-04-02 280657 ENSG00000171483 OTTHUMG00000021464 BK000686 NR_028366 Q7RTT6 12216073 MGI:2446774 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SSX6 300541 HGNC:19652 +HGNC:19653 SSX7 SSX family member 7 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 synovial sarcoma, X breakpoint 7 SSX family 1833 2002-11-19 2016-05-20 2016-10-05 280658 ENSG00000187754 OTTHUMG00000021572 uc004dqx.2 BK000687 NM_173358 CCDS14343 Q7RTT5 12216073 "MGI:1915235|MGI:2446771|MGI:2446772|MGI:2446773|MGI:2446774|MGI:2446775|MGI:2446777|MGI:2446778|MGI:2446779|MGI:3647394|MGI:3650385" 300542 HGNC:19653 "ENST00000298181.6|NM_173358.2" +HGNC:19654 SSX8P SSX family member 8, pseudogene pseudogene pseudogene Approved Xp11.22 Xp11.22 SSX8 "synovial sarcoma, X breakpoint 8|SSX family member 8" SSX family 1833 2002-11-19 2018-05-23 2017-01-20 2021-10-07 280659 ENSG00000157965 OTTHUMG00000021573 BK000688 NR_027250 Q7RTT4 12216073 MGI:2446774 300543 PGOHUM00000305073 HGNC:19654 +HGNC:19655 SSX9P SSX family member 9, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 SSX9 "synovial sarcoma, X breakpoint 9|SSX family member 9" SSX family 1833 2002-11-19 2018-05-23 2016-07-19 2020-06-15 280660 ENSG00000204648 OTTHUMG00000021490 BK000689 NR_073393 Q7RTT3 12216073 MGI:2446774 300544 HGNC:19655 +HGNC:30637 SSXP1 SSX family pseudogene 1 pseudogene pseudogene Approved Xp11.22 Xp11.22 psiSSX1 2008-04-17 2020-04-20 100996564 ENSG00000197185 OTTHUMG00000021582 NG_033927 12216073 HGNC:30637 +HGNC:30640 SSXP3 SSX family pseudogene 3 pseudogene pseudogene Approved Xp11.23 Xp11.23 psiSSX3 2008-04-17 2013-09-23 326341 ENSG00000225198 OTTHUMG00000021468 NG_002580 HGNC:30640 +HGNC:30641 SSXP4 SSX family pseudogene 4 pseudogene pseudogene Approved Xp11.22 Xp11.22 psiSSX4 SSX10 synovial sarcoma, X breakpoint 10 2008-04-17 2013-04-26 326337 ENSG00000185319 OTTHUMG00000021581 NG_002578 12216073 PGOHUM00000250071 HGNC:30641 +HGNC:30642 SSXP5 SSX family pseudogene 5 pseudogene pseudogene Approved Xp11.22 Xp11.22 psiSSX5 2008-04-17 2013-09-23 326339 ENSG00000225508 OTTHUMG00000021574 NG_002579 12216073 PGOHUM00000241778 HGNC:30642 +HGNC:30643 SSXP6 SSX family pseudogene 6 pseudogene pseudogene Approved Xp11.23 Xp11.23 psiSSX6 2008-04-17 2013-09-23 326587 NG_002585 HGNC:30643 +HGNC:30644 SSXP7 SSX family pseudogene 7 pseudogene pseudogene Approved Xp11.23 Xp11.23 psiSSX7 2008-04-17 2013-09-23 326590 NG_002587 12216073 HGNC:30644 +HGNC:30199 SSXP8 SSX family pseudogene 8 pseudogene pseudogene Approved Xp11.23 Xp11.23 psiSSX8 2008-04-17 2013-09-23 326585 NG_002583 12216073 HGNC:30199 +HGNC:30645 SSXP9 SSX family pseudogene 9 pseudogene pseudogene Approved Xp11.23 Xp11.23 psiSSX9 2008-04-17 2013-09-23 326586 ENSG00000227302 OTTHUMG00000021484 NG_002584 12216073 PGOHUM00000250069 HGNC:30645 +HGNC:30638 SSXP10 SSX family pseudogene 10 pseudogene pseudogene Approved 6q22.31 06q22.31 psiSSX10 2008-04-17 2014-11-19 100287603 ENSG00000217330 OTTHUMG00000016373 NG_022942 12216073 PGOHUM00000243755 HGNC:30638 +HGNC:10862 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "ST3O|SIATFL|ST3GalA.1" "ST3Gal I|CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase" SIAT4A sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase) Sialyltransferases 438 1994-09-12 2005-02-07 2003-01-14 2019-09-23 6482 ENSG00000008513 OTTHUMG00000164534 uc064qlo.1 L29555 NM_003033 CCDS6373 Q11201 "10504389|7655169" MGI:98304 RGD:1309373 607187 2.4.99.4 HGNC:10862 "ENST00000522652.6|NM_173344.3" +HGNC:55372 ST3GAL1-DT ST3GAL1 divergent transcript non-coding RNA RNA, long non-coding Approved 8q24.22 08q24.22 Divergent transcripts 1990 2020-11-11 2020-11-11 119545630 ENSG00000261220 +HGNC:45174 ST3GAL1P1 ST3GAL1 pseudogene 1 pseudogene pseudogene Approved 4q13.2 04q13.2 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 pseudogene 1 2013-03-01 2019-11-26 2019-11-26 100421804 ENSG00000250656 OTTHUMG00000160778 NG_025114 PGOHUM00000245551 HGNC:45174 +HGNC:10863 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "ST3GALII|ST3GalA.2" SIAT4B sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase) Sialyltransferases 438 1994-09-12 2005-02-07 2003-01-14 2016-10-05 6483 ENSG00000157350 OTTHUMG00000137580 uc002eyx.2 U63090 NM_006927 CCDS10890 Q16842 "9266697|8920913" MGI:99427 RGD:68413 607188 2.4.99.4 HGNC:10863 "ENST00000342907.3|NM_006927.4" +HGNC:10866 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "ST3Gal III|N-acetyllactosaminide alpha-2,3-sialyltransferase" "SIAT6|MRT12" "sialyltransferase 6 (N-acetyllactosaminide alpha 2,3-sialyltransferase)|mental retardation, non-syndromic, autosomal recessive, 12" "Sialyltransferases|MicroRNA protein coding host genes" "438|1691" 1994-09-20 2005-02-07 2005-02-07 2021-05-26 6487 ENSG00000126091 OTTHUMG00000007561 uc001ckc.5 L23768 NM_174963 "CCDS499|CCDS57989|CCDS57990|CCDS57991|CCDS85965|CCDS57988|CCDS85964|CCDS57992|CCDS53310|CCDS57993|CCDS57994|CCDS492|CCDS493|CCDS85962|CCDS494|CCDS495|CCDS496|CCDS85961|CCDS497|CCDS498|CCDS500" Q11203 "8333853|21907012" MGI:1316659 RGD:68414 606494 285223 2.4.99.6 HGNC:10866 "ENST00000347631.8|NM_006279.5" HGNC:10866 +HGNC:40529 ST3GAL3-AS1 ST3GAL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.1 01p34.1 Antisense RNAs 1987 2020-03-27 2020-03-27 101929592 ENSG00000229444 OTTHUMG00000007703 NR_125986 +HGNC:10864 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "STZ|SAT3|FLJ11867" ST3Gal IV "CGS23|SIAT4|NANTA3|SIAT4C" sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase) Sialyltransferases 438 1988-05-11 2005-02-07 2003-01-14 2016-10-05 6484 ENSG00000110080 OTTHUMG00000165830 uc058izf.1 X74570 NM_006278 "CCDS8474|CCDS58194|CCDS58193" Q11206 "8557707|8288606" MGI:1316743 RGD:1303068 104240 2.4.99.4 HGNC:10864 "ENST00000444328.7|NM_001254757.2" +HGNC:10872 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "ST3GalV|SIATGM3S" "ganglioside GM3 synthase|lactosylceramide alpha-2,3-sialyltransferase" SIAT9 sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase) Sialyltransferases 438 1999-06-17 2005-02-07 2005-02-07 2021-05-26 8869 ENSG00000115525 OTTHUMG00000130171 uc002sqq.2 AB018356 NM_003896 "CCDS86857|CCDS42705|CCDS1986|CCDS86856" Q9UNP4 9822625 MGI:1339963 RGD:620875 604402 181124 2.4.99.9 HGNC:10872 "ENST00000638572.2|NM_003896.4" HGNC:10872 +HGNC:51129 ST3GAL5-AS1 ST3GAL5 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 Antisense RNAs 1987 2014-07-30 2014-07-30 101928113 ENSG00000232504 OTTHUMG00000153169 NR_110569 ST3GAL5-AS1 HGNC:51129 +HGNC:45175 ST3GAL5P1 ST3GAL5 pseudogene 1 pseudogene pseudogene Approved 5p13.3 05p13.3 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 pseudogene 1 2013-03-01 2019-11-26 2019-11-26 100421795 NG_024584 PGOHUM00000235182 HGNC:45175 +HGNC:18080 ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 protein-coding gene gene with protein product Approved 3q12.1 03q12.1 ST3GALVI SIAT10 sialyltransferase 10 (alpha-2,3-sialyltransferase VI) Sialyltransferases 438 2003-12-05 2005-02-07 2005-02-07 2016-10-05 10402 ENSG00000064225 OTTHUMG00000159047 uc003dtc.4 AF119391 NM_006100 CCDS2933 Q9Y274 10206952 MGI:1888707 RGD:1303279 607156 2.4.99.- HGNC:18080 "ENST00000483910.6|NM_001323368.2" +HGNC:40828 ST3GAL6-AS1 ST3GAL6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q12.1 03q12.1 ST3GAL6 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2021-06-25 100874207 ENSG00000239445 OTTHUMG00000159044 uc031sas.2 NR_046683 32218309 ST3GAL6-AS1 HGNC:40828 +HGNC:10860 ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 CDw75 ST6Gal I SIAT1 "sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)|ST6 beta-galactosamide alpha-2,6-sialyltranferase 1|ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1" Sialyltransferases 438 1992-04-10 2005-02-07 2016-04-29 2022-02-11 6480 ENSG00000073849 OTTHUMG00000156500 uc003frb.4 X62822 NM_173216 "CCDS46973|CCDS3285" P15907 2408023 MGI:108470 RGD:3676 109675 2.4.99.1 HGNC:10860 "ENST00000169298.8|NM_173216.2" +HGNC:10861 ST6GAL2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 "KIAA1877|St6GalII" SIAT2 "sialyltransferase 2 (monosialoganglioside sialyltransferase)|ST6 beta-galactosamide alpha-2,6-sialyltranferase 2" Sialyltransferases 438 1994-09-20 2005-02-07 2016-04-29 2020-05-04 84620 ENSG00000144057 OTTHUMG00000130923 uc002tdr.3 AB059555 NM_032528 "CCDS46380|CCDS2073" Q96JF0 MGI:2445190 RGD:1559663 608472 2.4.99.2 HGNC:10861 "ENST00000409382.8|NM_001142351.2" +HGNC:41380 ST6GAL2-IT1 ST6GAL2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q12.2 02q12.2 ST6GAL2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-08-23 2015-02-25 2015-02-25 100874354 ENSG00000238250 OTTHUMG00000153201 uc061mqq.1 ST6GAL2-IT1 +HGNC:23614 ST6GALNAC1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 ST6GalNAcI SIAT7A "sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1|ST6 GalNAc alpha-2,6-sialyltransferase 1" Sialyltransferases 438 2003-12-05 2005-02-07 2016-04-29 2016-10-05 55808 ENSG00000070526 OTTHUMG00000180369 uc002jsh.5 Y11339 NM_018414 CCDS11748 Q9NSC7 MGI:1341826 RGD:1562048 610138 2.4.99.3 HGNC:23614 "ENST00000156626.12|NM_018414.5" +HGNC:10867 ST6GALNAC2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "ST6GalNAII|STHM" "SIAT7|SIAT7B|SIATL1" "sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)|sialyltransferase-like 1|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2|ST6 GalNAc alpha-2,6-sialyltransferase 2" Sialyltransferases 438 1994-09-20 2005-02-07 2016-04-29 2017-09-20 10610 ENSG00000070731 OTTHUMG00000191877 uc002jsg.5 U14550 NM_006456 CCDS11747 Q9UJ37 11984005 MGI:107553 RGD:1560747 610137 2.4.99.7 HGNC:10867 "ENST00000225276.10|NM_006456.3" +HGNC:45160 ST6GALNAC2P1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 "ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 pseudogene 1|ST6 GalNAc alpha-2,6-sialyltransferase 2 pseudogene 1" 2013-02-26 2016-04-29 2016-04-29 100422716 ENSG00000228902 OTTHUMG00000152973 NG_023578 PGOHUM00000240117 HGNC:45160 +HGNC:19343 ST6GALNAC3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 ST6GALNAC III SIAT7C "sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3|ST6 GalNAc alpha-2,6-sialyltransferase 3" Sialyltransferases 438 2003-12-05 2005-02-07 2016-04-29 2016-04-29 256435 ENSG00000184005 OTTHUMG00000009615 uc001dhh.3 NM_152996 CCDS672 Q8NDV1 MGI:1341828 RGD:3677 610133 2.4.99.- HGNC:19343 "ENST00000328299.4|NM_152996.4" +HGNC:17846 ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "ST6GALNACIV|SIAT3C" SIAT7D "sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4|ST6 GalNAc alpha-2,6-sialyltransferase 4" Sialyltransferases 438 2001-12-19 2005-02-07 2016-04-29 2016-10-05 27090 ENSG00000136840 OTTHUMG00000020724 uc004bss.3 AB035172 NM_175040 CCDS6883 Q9H4F1 "10207017|11062056" MGI:1341894 RGD:1303005 606378 2.4.99.7 HGNC:17846 "ENST00000335791.10|NM_175039.4" +HGNC:39660 ST6GALNAC4P1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 "ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 pseudogene 1|ST6 GalNAc alpha-2,6-sialyltransferase 4 pseudogene 1" 2011-03-18 2016-04-29 2016-04-29 100874524 ENSG00000233469 OTTHUMG00000016501 NG_032337 PGOHUM00000248313 HGNC:39660 +HGNC:19342 ST6GALNAC5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "MGC3184|ST6GalNAcV" SIAT7E "sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5|ST6 GalNAc alpha-2,6-sialyltransferase 5" "Sialyltransferases|MicroRNA protein coding host genes" "438|1691" 2003-12-05 2005-02-07 2016-04-29 2016-04-29 81849 ENSG00000117069 OTTHUMG00000009687 uc001dhi.4 NM_030965 CCDS673 Q9BVH7 "10521438|10601645" MGI:1349471 RGD:1564252 610134 2.4.99.- HGNC:19342 "ENST00000477717.6|NM_030965.3" +HGNC:23364 ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 ST6GALNACVI SIAT7F "sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F|ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6|ST6 GalNAc alpha-2,6-sialyltransferase 6" Sialyltransferases 438 2004-05-11 2005-02-07 2016-04-29 2016-10-05 30815 ENSG00000160408 OTTHUMG00000020718 uc004bso.3 BC006564 NM_013443 "CCDS69669|CCDS6882|CCDS69668|CCDS75908" Q969X2 12668675 MGI:1355316 RGD:1303196 610135 2.4.99.- HGNC:23364 "ENST00000373146.6|NM_013443.5" +HGNC:11351 ST7 suppression of tumorigenicity 7 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "TSG7|SEN4|ETS7q|HELG|RAY1|FAM4A" FAM4A1 MicroRNA protein coding host genes 1691 1999-05-07 2021-07-29 7982 ENSG00000004866 OTTHUMG00000023888 uc003vio.4 AJ277291 NM_021908 "CCDS5770|CCDS5769" Q9NRC1 "8105370|8938430|11279520" MGI:1927450 RGD:1303148 600833 HGNC:11351 "ENST00000323984.8|NM_001369598.1" HGNC:11351 +HGNC:16000 ST7-AS1 ST7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 ST7AS1 ST7 overlapping transcript antisense 1 ST7OT1 "ST7 overlapping transcript 1 (antisense non-coding RNA)|ST7 overlapping transcript 1 (non-protein coding)|ST7 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2001-07-13 2011-04-28 2012-08-15 2020-09-09 93653 ENSG00000227199 OTTHUMG00000039524 uc003vim.5 AF400039 NR_002330 "12213198|30853182" st7ot ST7-AS1 HGNC:16000 +HGNC:16044 ST7-AS2 ST7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 ST7AS2 ST7 overlapping transcript antisense 2 ST7OT2 "ST7 overlapping transcript 2 (antisense non-coding RNA)|ST7 overlapping transcript 2 (non-protein coding)|ST7 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2001-07-13 2011-04-28 2012-08-15 2016-11-24 93654 ENSG00000226367 OTTHUMG00000039525 uc003viw.5 AF400043 NR_002331 12213198 st7ot ST7-AS2 HGNC:16044 +HGNC:16045 ST7-OT3 ST7 overlapping transcript 3 non-coding RNA RNA, long non-coding Approved 7q31.3 07q31.3 NCRNA00026 non-protein coding RNA 26 ST7OT3 ST7 overlapping transcript 3 (non-protein coding) Overlapping transcripts 1988 2001-07-13 2011-08-19 2014-06-02 2016-11-24 93655 AF400044 NR_002332 12213198 st7ot ST7-OT3 HGNC:16045 +HGNC:18835 ST7-OT4 ST7 overlapping transcript 4 non-coding RNA RNA, long non-coding Approved 7q31.2 07q31.2 NCRNA00042 non-protein coding RNA 42 ST7OT4 ST7 overlapping transcript 4 (non-protein coding) Overlapping transcripts 1988 2003-02-25 2011-08-19 2013-03-06 2019-06-28 338069 ENSG00000214188 OTTHUMG00000063631 uc064hil.1 BM413623 NR_002329 12213198 st7ot HGNC:18835 +HGNC:18441 ST7L suppression of tumorigenicity 7 like protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "FLJ20284|STLR|ST7R|FAM4B" 2002-04-26 2016-10-05 54879 ENSG00000007341 OTTHUMG00000011753 uc001eci.4 AB081317 NM_001308264 "CCDS852|CCDS850|CCDS849|CCDS76189|CCDS848" Q8TDW4 12012006 MGI:2386964 RGD:1359336 617640 HGNC:18441 "ENST00000358039.9|NM_017744.5" +HGNC:10869 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 ST8Sia I "SIAT8|SIAT8A" "sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A|ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 1" Sialyltransferases 438 1994-09-12 2005-02-07 2016-04-29 2016-10-05 6489 ENSG00000111728 OTTHUMG00000169098 uc001rfo.4 L32867 NM_003034 CCDS8697 Q92185 7901202 MGI:106011 RGD:3679 601123 2.4.99.8 HGNC:10869 "ENST00000396037.9|NM_003034.4" +HGNC:10870 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "STX|ST8SIA-II|HsT19690" SIAT8B SIAT8B Sialyltransferases 438 1999-06-11 2005-02-07 2016-04-29 2017-12-06 8128 ENSG00000140557 OTTHUMG00000149843 uc002bra.4 U33551 NM_006011 "CCDS81919|CCDS10372" Q92186 7559389 MGI:106020 RGD:621843 602546 HGNC:10870 "ENST00000268164.8|NM_006011.4" HGNC:10870 +HGNC:14269 ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 ST8Sia III SIAT8C SIAT8C Sialyltransferases 438 2000-12-19 2005-02-07 2016-04-29 2017-12-06 51046 ENSG00000177511 OTTHUMG00000180101 uc002lgn.4 AF004668 NM_015879 CCDS32834 O43173 MGI:106019 RGD:3680 609478 2.4.99.- HGNC:14269 "ENST00000324000.4|NM_015879.3" +HGNC:10871 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 protein-coding gene gene with protein product Approved 5q21.1 05q21.1 "PST|PST1" ST8Sia IV SIAT8D "sialyltransferase 8 (alpha-2, 8-polysialytransferase) D|ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 4" "Sialyltransferases|MicroRNA protein coding host genes" "438|1691" 1999-06-11 2005-02-07 2016-04-29 2016-10-05 7903 ENSG00000113532 OTTHUMG00000128727 uc003knk.5 L41680 NM_005668 "CCDS47252|CCDS4091" Q92187 7624364 MGI:106018 RGD:621845 602547 2.4.99.- HGNC:10871 "ENST00000231461.10|NM_005668.6" +HGNC:17827 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 protein-coding gene gene with protein product Approved 18q21.1 18q21.1 ST8Sia V SIAT8E SIAT8E Sialyltransferases 438 2002-01-29 2005-02-07 2016-04-29 2017-12-06 29906 ENSG00000101638 OTTHUMG00000132643 uc002lcj.2 U91641 NM_013305 "CCDS77183|CCDS11930|CCDS77184" O15466 9199191 MGI:109243 RGD:1302934 607162 2.4.99.- HGNC:17827 "ENST00000315087.12|NM_013305.6" +HGNC:55267 ST8SIA5-DT ST8SIA5 divergent transcript non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 Divergent transcripts 1990 2020-10-01 2020-10-01 105372097 ENSG00000270112 XR_001753432 +HGNC:23317 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 ST8Sia VI SIAT8F SIAT8F Sialyltransferases 438 2004-03-22 2005-02-07 2016-04-29 2017-12-06 338596 ENSG00000148488 OTTHUMG00000017748 uc001ipd.4 NM_001004470 CCDS31158 P61647 11980897 MGI:2386797 RGD:1303161 610139 2.4.99.- HGNC:23317 "ENST00000377602.5|NM_001004470.3" +HGNC:44880 ST8SIA6-AS1 ST8SIA6 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p12.33 10p12.33 APAL Aurora A/PLK1 associated lncRNA Antisense RNAs 1987 2012-12-11 2019-07-11 100128098 ENSG00000204832 OTTHUMG00000017746 uc001ipf.2 NR_034129 31286138 ST8SIA6-AS1 HGNC:44880 +HGNC:11343 ST13 ST13 Hsp70 interacting protein protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "SNC6|HSPABP1|HIP|P48|FAM10A1" progesterone receptor-associated p48 protein "suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)|ST13, Hsp70 interacting protein" Tetratricopeptide repeat domain containing 769 1998-05-05 2019-01-25 2019-01-25 6767 ENSG00000100380 OTTHUMG00000151201 uc003aze.5 NM_003932 CCDS14006 P50502 "9925927|8721986" MGI:1917606 RGD:621312 606796 HGNC:11343 "ENST00000216218.8|NM_003932.5" +HGNC:38715 ST13P1 ST13, Hsp70 interacting protein pseudogene 1 pseudogene pseudogene Approved 2p25.1 02p25.1 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 1 2010-08-11 2017-03-01 2017-03-01 729992 XR_038318 PGOHUM00000240582 HGNC:38715 +HGNC:38716 ST13P2 ST13, Hsp70 interacting protein pseudogene 2 pseudogene pseudogene Approved 2q32.1 02q32.1 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 2 2010-08-11 2017-03-01 2017-03-01 344328 ENSG00000235616 OTTHUMG00000154284 XR_017370 PGOHUM00000241043 HGNC:38716 +HGNC:18552 ST13P3 ST13, Hsp70 interacting protein pseudogene 3 pseudogene pseudogene Approved 12q23.3 12q23.3 FAM10A3P FAM10A3 "family with sequence similarity 10, member A3|suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 3" 2002-05-03 2010-08-11 2017-03-01 2017-10-26 144638 ENSG00000257773 OTTHUMG00000169726 NG_004762 PGOHUM00000291790 HGNC:18552 +HGNC:18487 ST13P4 ST13, Hsp70 interacting protein pseudogene 4 pseudogene pseudogene Approved 13q14.2 13q14.2 FAM10A4P FAM10A4 "family with sequence similarity 10, member A4 pseudogene|suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4" 2002-05-03 2010-08-11 2017-03-01 2019-09-13 145165 ENSG00000232150 OTTHUMG00000016930 NR_002183 Q8IZP2 PGOHUM00000248593 HGNC:18487 +HGNC:18556 ST13P5 ST13, Hsp70 interacting protein pseudogene 5 pseudogene pseudogene Approved 11p15.1 11p15.1 FAM10A5 "family with sequence similarity 10, member A5|family with sequence similarity 10, member A5 pseudogene|suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 5" 2002-05-03 2010-08-11 2017-03-01 2019-09-13 144106 ENSG00000212789 OTTHUMG00000165956 NG_005653 Q8NFI4 12079276 MGI:1917606 HGNC:18556 +HGNC:18557 ST13P6 ST13, Hsp70 interacting protein pseudogene 6 pseudogene pseudogene Approved 8q24.22 08q24.22 FAM10A6P FAM10A6 "family with sequence similarity 10, member A6|suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 6" 2002-05-03 2010-08-11 2017-03-01 2017-03-01 157530 ENSG00000225259 OTTHUMG00000164533 NR_002199 HGNC:18557 +HGNC:18558 ST13P7 ST13, Hsp70 interacting protein pseudogene 7 pseudogene pseudogene Approved 7q33 07q33 FAM10A7P FAM10A7 "family with sequence similarity 10, member A7|family with sequence similarity 10, member A7 (pseudogene)|suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 7" 2002-05-03 2010-08-11 2017-03-01 2020-04-03 155019 ENSG00000237821 NR_002198 PGOHUM00000232999 HGNC:18558 +HGNC:38743 ST13P8 ST13, Hsp70 interacting protein pseudogene 8 pseudogene pseudogene Approved 12q14.1 12q14.1 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 8 2010-08-11 2017-03-01 2017-03-01 338805 NG_021690 HGNC:38743 +HGNC:38744 ST13P9 ST13, Hsp70 interacting protein pseudogene 9 pseudogene pseudogene Approved 12p11.1 12p11.1 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 9 2010-08-11 2017-03-01 2017-03-01 390301 NG_021711 PGOHUM00000239735 HGNC:38744 +HGNC:38745 ST13P10 ST13, Hsp70 interacting protein pseudogene 10 pseudogene pseudogene Approved 11q23.1 11q23.1 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 10 2010-08-11 2017-03-01 2017-03-01 399950 ENSG00000213234 NG_021804 PGOHUM00000242489 HGNC:38745 +HGNC:38746 ST13P11 ST13, Hsp70 interacting protein pseudogene 11 pseudogene pseudogene Approved 11q21 11q21 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 11 2010-08-11 2017-03-01 2017-10-26 728162 ENSG00000213368 OTTHUMG00000167837 NG_021831 PGOHUM00000291102 HGNC:38746 +HGNC:38787 ST13P12 ST13, Hsp70 interacting protein pseudogene 12 pseudogene pseudogene Approved 5q14.2 05q14.2 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 12 2010-08-11 2017-03-01 2017-03-01 100127911 ENSG00000248400 OTTHUMG00000162560 NG_021887 PGOHUM00000235680 HGNC:38787 +HGNC:38788 ST13P13 ST13, Hsp70 interacting protein pseudogene 13 pseudogene pseudogene Approved 10q24.33 10q24.33 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 13 2010-08-11 2017-03-01 2017-03-01 401648 ENSG00000229256 OTTHUMG00000018979 NG_022189 PGOHUM00000238909 HGNC:38788 +HGNC:38849 ST13P14 ST13, Hsp70 interacting protein pseudogene 14 pseudogene pseudogene Approved 3p21.2 03p21.2 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 14 2010-08-17 2017-03-01 2017-03-01 100422602 ENSG00000240959 OTTHUMG00000156852 NG_028012 PGOHUM00000237628 HGNC:38849 +HGNC:38850 ST13P15 ST13, Hsp70 interacting protein pseudogene 15 pseudogene pseudogene Approved 3q24 03q24 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 15 2010-08-17 2017-03-01 2017-03-01 100422603 ENSG00000243759 OTTHUMG00000159381 NG_025637 PGOHUM00000237802 HGNC:38850 +HGNC:38851 ST13P16 ST13, Hsp70 interacting protein pseudogene 16 pseudogene pseudogene Approved 6q15 06q15 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 16 2010-08-17 2017-03-01 2017-03-01 100422605 ENSG00000218698 OTTHUMG00000015176 NG_025845 PGOHUM00000243287 HGNC:38851 +HGNC:38859 ST13P17 ST13, Hsp70 interacting protein pseudogene 17 pseudogene pseudogene Approved 7q34 07q34 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 17 2010-08-17 2017-03-01 2017-03-01 442730 NG_022574 HGNC:38859 +HGNC:38861 ST13P18 ST13, Hsp70 interacting protein pseudogene 18 pseudogene pseudogene Approved Xq21.32 Xq21.32 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 18 2010-08-17 2017-03-01 2017-03-01 643310 ENSG00000234322 OTTHUMG00000021971 NG_022623 PGOHUM00000241448 HGNC:38861 +HGNC:38862 ST13P19 ST13, Hsp70 interacting protein pseudogene 19 pseudogene pseudogene Approved 1q32.2 01q32.2 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 19 2010-08-17 2017-03-01 2017-03-01 100131961 ENSG00000228110 OTTHUMG00000036393 NG_022751 HGNC:38862 +HGNC:38863 ST13P20 ST13, Hsp70 interacting protein pseudogene 20 pseudogene pseudogene Approved 1p31.1 01p31.1 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 20 2010-08-17 2017-03-01 2017-03-01 729828 ENSG00000215875 OTTHUMG00000009846 NG_022788 PGOHUM00000244776 HGNC:38863 +HGNC:38864 ST13P21 ST13, Hsp70 interacting protein pseudogene 21 pseudogene pseudogene Approved 1p13.3 01p13.3 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 21 2010-08-17 2017-03-01 2017-03-01 642818 ENSG00000227832 OTTHUMG00000011458 NG_022797 PGOHUM00000244835 HGNC:38864 +HGNC:38865 ST13P22 ST13, Hsp70 interacting protein pseudogene 22 pseudogene pseudogene Approved 12q23.2 12q23.2 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 22 2010-09-27 2017-03-01 2017-03-01 100874521 NG_021243 PGOHUM00000239567 HGNC:38865 +HGNC:11344 ST14 ST14 transmembrane serine protease matriptase protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "SNC19|HAI|MT-SP1|TMPRSS14|CAP3" "epithin|matriptase|channel–activating protein 3" PRSS14 "suppression of tumorigenicity 14 (colon carcinoma)|suppression of tumorigenicity 14" Type II transmembrane serine proteases 2020 1998-05-05 2020-05-21 2021-01-25 6768 ENSG00000149418 OTTHUMG00000165768 uc001qfw.4 AF118224 NM_021978 CCDS8487 Q9Y5Y6 "9925927|10373424" MGI:1338881 RGD:69288 606797 179413 S01.302 objectId:2418 HGNC:11344 "ENST00000278742.6|NM_021978.4" HGNC:11344 +HGNC:18695 ST18 ST18 C2H2C-type zinc finger transcription factor protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "KIAA0535|ZC2HC10|NZF3|NZF-3|ZC2H2C3" neural zinc finger transcription factor 3 ZNF387 "zinc finger protein 387|suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)|suppression of tumorigenicity 18, zinc finger|ST18, C2H2C-type zinc finger" Zinc fingers C2H2C-type 1261 2002-05-28 2002-12-13 2019-02-07 2019-02-07 9705 ENSG00000147488 OTTHUMG00000164233 uc003xra.3 AB011107 NM_001352826 CCDS6149 O60284 "15489893|9478997" MGI:2446700 RGD:708566 617155 HGNC:18695 "ENST00000689386.1|NM_001352837.2" +HGNC:33520 ST20 suppressor of tumorigenicity 20 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 HCCS-1 human cervical cancer suppressor 1 2007-07-16 2020-06-09 400410 ENSG00000180953 OTTHUMG00000172078 uc059mie.1 AF249277 NR_037652 CCDS42067 Q9HBF5 11857354 HGNC:33520 +HGNC:27521 ST20-AS1 ST20 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 FLJ33788 C15orf37 chromosome 15 open reading frame 37 Antisense RNAs 1987 2005-10-24 2014-10-01 2014-10-01 2014-10-01 283687 ENSG00000259642 OTTHUMG00000172079 AK091107 NR_028330 Q8NBB2 ST20-AS1 HGNC:27521 +HGNC:44655 ST20-MTHFS ST20-MTHFS readthrough other readthrough Approved 15q25.1 15q25.1 2012-12-12 2012-12-12 100528021 ENSG00000259332 OTTHUMG00000172077 uc059mhy.1 NM_001199760 "MGI:1340032|MGI:3780550" HGNC:44655 +HGNC:18628 STAB1 stabilin 1 protein-coding gene gene with protein product Approved 3p21.1 03p21.1 "KIAA0246|STAB-1|FEEL-1|CLEVER-1|FELE-1|FEX1|SCARH2" "MS-1 antigen|fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1|common lymphatic endothelial and vascular endothelial receptor-1" Scavenger receptors 1253 2002-09-11 2016-10-05 23166 ENSG00000010327 OTTHUMG00000158574 uc003dej.4 AJ275213 NM_015136 CCDS33768 Q9NY15 "11829752|12077138" MGI:2178742 RGD:2324745 608560 HGNC:18628 "ENST00000321725.10|NM_015136.3" +HGNC:18629 STAB2 stabilin 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "DKFZP434E0321|FELL|STAB-2|HARE|FEEL-2|SCARH1" hyaluronic acid receptor for endocytosis Scavenger receptors 1253 2002-09-11 2016-11-09 55576 ENSG00000136011 OTTHUMG00000170056 uc001tjw.4 AF160476 NM_017564 CCDS31888 Q8WWQ8 "11829752|12077138" MGI:2178743 RGD:628822 608561 HGNC:18629 "ENST00000388887.7|NM_017564.10" +HGNC:11353 STAC SH3 and cysteine rich domain protein-coding gene gene with protein product Approved 3p22.3-p22.2 03p22.3-p22.2 STAC1 src homology three (SH3) and cysteine rich domain 1997-08-28 2018-02-13 6769 ENSG00000144681 OTTHUMG00000130798 uc003cgh.2 D86640 NM_003149 "CCDS2662|CCDS77722" Q99469 "8954993|10393425" MGI:1201400 RGD:1305745 602317 HGNC:11353 "ENST00000273183.8|NM_003149.3" +HGNC:23990 STAC2 SH3 and cysteine rich domain 2 protein-coding gene gene with protein product Approved 17q12 17q12 24b2 2004-05-19 2016-10-05 342667 ENSG00000141750 OTTHUMG00000179039 uc002hrs.4 AJ608762 NM_198993 CCDS11335 Q6ZMT1 MGI:2144518 RGD:1305548 HGNC:23990 "ENST00000333461.6|NM_198993.5" +HGNC:28423 STAC3 SH3 and cysteine rich domain 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 MGC2793 2004-05-19 2015-02-26 246329 ENSG00000185482 OTTHUMG00000171271 uc001snp.4 AK057013 NM_145064 "CCDS8936|CCDS66405|CCDS66406" Q96MF2 23818578 MGI:3606571 RGD:1308964 615521 354117 HGNC:28423 "ENST00000332782.7|NM_145064.3" HGNC:28423 +HGNC:11354 STAG1 stromal antigen 1 protein-coding gene gene with protein product Approved 3q22.3 03q22.3 "SA-1|SCC3A|SA1" cohesin subunit SA-1 "Cohesin complex|Armadillo like helical domain containing" "1060|1492" 1999-04-29 2018-08-06 10274 ENSG00000118007 OTTHUMG00000159798 uc003era.2 Z75330 NM_005862 CCDS3090 Q8WVM7 9305759 MGI:1098658 RGD:1310744 604358 471156 HGNC:11354 "ENST00000383202.7|NM_005862.3" HGNC:11354 +HGNC:55350 STAG1-DT STAG1 divergent transcript non-coding RNA RNA, long non-coding Approved 3q22.3 03q22.3 Divergent transcripts 1990 2020-11-04 2020-11-04 119139906 ENSG00000261758 +HGNC:11355 STAG2 stromal antigen 2 protein-coding gene gene with protein product Approved Xq25 Xq25 "SA-2|SCC3B|SA2" "Cohesin complex|Armadillo like helical domain containing" "1060|1492" 1999-04-29 2021-04-13 10735 ENSG00000101972 OTTHUMG00000022725 uc004eub.5 Z75331 NM_006603 "CCDS43990|CCDS14607" Q8N3U4 9305759 MGI:1098583 RGD:1562042 LRG_782|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_782.xml STAG2 300826 471160 HGNC:11355 "ENST00000371145.8|NM_001042750.2" HGNC:11355 +HGNC:55727 STAG2-AS1 STAG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq25 Xq25 Antisense RNAs 1987 2021-07-16 2021-07-16 101928402 ENSG00000232412 NR_130770 +HGNC:11356 STAG3 stromal antigen 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "Cohesin complex|Armadillo like helical domain containing" "1060|1492" 1999-04-29 2016-10-05 10734 ENSG00000066923 OTTHUMG00000155183 uc032zyz.2 AJ007798 NM_012447 "CCDS75642|CCDS34703|CCDS64730" Q9UJ98 10698974 MGI:1355311 RGD:621333 608489 400662 HGNC:11356 "ENST00000615138.5|NM_001282717.2" +HGNC:33852 STAG3L1 stromal antigen 3-like 1 (pseudogene) pseudogene pseudogene Approved 7q11.23 07q11.23 "DKFZP434A0131|STAG3L1P" stromal antigen 3-like 1 Armadillo like helical domain containing 1492 2007-11-20 2013-06-26 2021-10-07 54441 ENSG00000205583 OTTHUMG00000155940 NR_040583 P0CL83 HGNC:33852 +HGNC:33886 STAG3L2 stromal antigen 3-like 2 (pseudogene) pseudogene pseudogene Approved 7q11.23 07q11.23 "MGC131759|STAG3L2P" stromal antigen 3-like 2 Armadillo like helical domain containing 1492 2007-11-20 2013-06-26 2021-10-07 442582 ENSG00000277072 OTTHUMG00000156216 NR_040584 P0CL84 HGNC:33886 +HGNC:33845 STAG3L3 stromal antigen 3-like 3 (pseudogene) pseudogene pseudogene Approved 7q11.23 07q11.23 STAG3L3P stromal antigen 3-like 3 Armadillo like helical domain containing 1492 2007-11-20 2014-09-30 2021-10-07 442578 ENSG00000174353 OTTHUMG00000157064 NR_040582 P0CL85 HGNC:33845 +HGNC:33887 STAG3L4 stromal antigen 3-like 4 (pseudogene) pseudogene pseudogene Approved 7q11.21 07q11.21 "FLJ13195|STAG3L4P" stromal antigen 3-like 4 2007-11-20 2013-06-26 2021-10-07 64940 ENSG00000106610 OTTHUMG00000156920 NR_040585 Q8TBR4 HGNC:33887 +HGNC:48896 STAG3L5P stromal antigen 3-like 5 pseudogene pseudogene pseudogene Approved 7q22.1 07q22.1 2013-06-26 2016-11-09 101735302 ENSG00000242294 OTTHUMG00000156884 NR_103720 HGNC:48896 +HGNC:48898 STAG3L5P-PVRIG2P-PILRB STAG3L5P-PVRIG2P-PILRB readthrough other readthrough Approved 7q22.1 07q22.1 2013-06-26 2015-07-22 101752399 ENSG00000272752 OTTHUMG00000186252 NR_036569 HGNC:48898 +HGNC:11357 STAM signal transducing adaptor molecule protein-coding gene gene with protein product Approved 10p12.33 10p12.33 STAM1 HSE1 homolog (S. cerevisiae) signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 ESCRT-0 1115 1998-10-14 2015-11-19 2016-10-05 8027 ENSG00000136738 OTTHUMG00000017749 uc001ipj.3 U43899 NM_003473 CCDS7122 Q92783 8780729 MGI:1329014 RGD:1564499 601899 HGNC:11357 "ENST00000377524.8|NM_003473.4" +HGNC:49568 STAM-DT STAM divergent transcript non-coding RNA RNA, long non-coding Approved 10p12.33 10p12.33 locus3182 locus 3182 STAM-AS1 STAM antisense RNA 1 (head to head) Divergent transcripts 1990 2014-01-11 2020-12-17 2020-12-17 2020-12-17 102723166 ENSG00000260589 OTTHUMG00000176135 AK123677 NR_110370 23382218 STAM-AS1 HGNC:49568 +HGNC:11358 STAM2 signal transducing adaptor molecule 2 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 Hbp HSE1 homolog (S. cerevisiae) signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 ESCRT-0 1115 1998-10-14 2015-11-19 2015-11-19 10254 ENSG00000115145 OTTHUMG00000131885 uc002tyc.4 AF042274 NM_005843 CCDS2196 O75886 "10899310|10993906" MGI:1929100 RGD:1311497 606244 HGNC:11358 "ENST00000263904.5|NM_005843.6" +HGNC:16950 STAMBP STAM binding protein protein-coding gene gene with protein product Approved 2p13.1 02p13.1 AMSH JAMM/MPN+ metallopeptidase family 999 2004-02-04 2016-10-05 10617 ENSG00000124356 OTTHUMG00000129817 uc061krg.1 BC007682 NM_006463 CCDS1929 O95630 10383417 MGI:1917777 RGD:619963 606247 353369 M67.006 HGNC:16950 "ENST00000394070.7|NM_213622.4" HGNC:16950 +HGNC:24105 STAMBPL1 STAM binding protein like 1 protein-coding gene gene with protein product Approved 10q23.31 10q23.31 "AMSH-LP|KIAA1373|AMSH-FP|FLJ31524|ALMalpha|bA399O19.2" "associated molecule with the SH3 domain of STAM (AMSH) like protein|associated molecule with the SH3 domain of STAM (AMSH) - Family Protein" STAM binding protein-like 1 JAMM/MPN+ metallopeptidase family 999 2005-10-25 2015-12-04 2016-10-05 57559 ENSG00000138134 OTTHUMG00000018702 uc001kfk.5 AB037794 NM_020799 CCDS7391 Q96FJ0 "12810066|12943674" MGI:1923880 RGD:1583011 612352 M67.003 HGNC:24105 "ENST00000371926.8|NM_020799.4" +HGNC:24133 STAP1 signal transducing adaptor family member 1 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 "STAP-1|BRDG1" BCR downstream signaling 1 SH2 domain containing 741 2007-08-09 2007-08-09 2014-11-19 26228 ENSG00000035720 OTTHUMG00000129304 uc003hdf.3 AB023483 NM_012108 CCDS3515 Q9ULZ2 "10518561|10679268" MGI:1926193 RGD:1311584 604298 471162 HGNC:24133 "ENST00000265404.7|NM_012108.4" +HGNC:30430 STAP2 signal transducing adaptor family member 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "STAP-2|BKS" 2007-08-09 2007-08-09 2014-11-19 55620 ENSG00000178078 OTTHUMG00000181884 uc060rvu.1 AJ245719 NM_001013841 "CCDS12128|CCDS45926" Q9UGK3 "10980601|11441184" MGI:2147039 RGD:1566020 607881 HGNC:30430 "ENST00000594605.6|NM_001013841.2" +HGNC:11359 STAR steroidogenic acute regulatory protein protein-coding gene gene with protein product Approved 8p11.23 08p11.23 STARD1 StAR related lipid transfer (START) domain containing 1 steroidogenic acute regulator StAR related lipid transfer domain containing 759 1996-04-24 2007-05-15 2020-05-04 6770 ENSG00000147465 OTTHUMG00000164058 uc003xkv.2 BC010550 NM_000349 CCDS6102 P49675 7761400 MGI:102760 RGD:3770 600617 119876 HGNC:11359 "ENST00000276449.9|NM_000349.3" HGNC:11359 +HGNC:17579 STARD3 StAR related lipid transfer domain containing 3 protein-coding gene gene with protein product Approved 17q11-q12 17q11-q12 "es64|MLN64" START domain containing 3 StAR related lipid transfer domain containing 759 2002-10-08 2015-11-20 2015-11-20 10948 ENSG00000131748 OTTHUMG00000133213 uc002hsd.4 NM_001165937 "CCDS11341|CCDS54117|CCDS54118" Q14849 MGI:1929618 RGD:1549768 607048 HGNC:17579 "ENST00000336308.10|NM_006804.4" +HGNC:19169 STARD3NL STARD3 N-terminal like protein-coding gene gene with protein product Approved 7p14-p13 07p14-p13 "MENTHO|MGC3251" 2003-02-06 2016-07-27 83930 ENSG00000010270 OTTHUMG00000023659 uc003tfr.4 AJ492267 NM_001363339 "CCDS5455|CCDS87495" O95772 "12393907|24105263|27068960" MGI:1923455 RGD:1308633 611759 HGNC:19169 "ENST00000009041.12|NM_032016.4" +HGNC:18058 STARD4 StAR related lipid transfer domain containing 4 protein-coding gene gene with protein product Approved 5q22.1 05q22.1 START domain containing 4, sterol regulated StAR related lipid transfer domain containing 759 2002-01-24 2015-11-20 2016-10-05 134429 ENSG00000164211 OTTHUMG00000128793 uc003kph.2 AF480299 NM_139164 "CCDS4104|CCDS78046" Q96DR4 12011452 MGI:2156764 RGD:1309475 607049 HGNC:18058 "ENST00000296632.8|NM_139164.3" +HGNC:44117 STARD4-AS1 STARD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q22.1 05q22.1 STARD4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2017-06-28 100505678 ENSG00000246859 OTTHUMG00000162858 uc021ych.1 CR749489 NR_040093 28621149 STARD4-AS1 HGNC:44117 +HGNC:18065 STARD5 StAR related lipid transfer domain containing 5 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 MGC10327 START domain containing 5 StAR related lipid transfer domain containing 759 2002-01-24 2015-11-20 2016-10-05 80765 ENSG00000172345 OTTHUMG00000147342 uc002bgm.4 AF480304 NM_181900 CCDS10318 Q9NSY2 12011452 MGI:2156765 RGD:1561783 607050 HGNC:18065 "ENST00000302824.7|NM_181900.3" +HGNC:18066 STARD6 StAR related lipid transfer domain containing 6 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 START domain containing 6 StAR related lipid transfer domain containing 759 2002-01-24 2015-11-20 2015-11-20 147323 ENSG00000174448 OTTHUMG00000132702 uc060phn.1 AF480305 NM_139171 CCDS11955 P59095 12011452 MGI:2156774 RGD:1359639 607051 HGNC:18066 "ENST00000307844.4|NM_139171.2" +HGNC:18063 STARD7 StAR related lipid transfer domain containing 7 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 GTT1 START domain containing 7 StAR related lipid transfer domain containing 759 2002-01-24 2015-11-20 2016-10-05 56910 ENSG00000084090 OTTHUMG00000130457 uc002svm.6 AF270647 NM_001385622 CCDS2017 Q9NQZ5 MGI:2139090 RGD:1307613 616712 HGNC:18063 "ENST00000337288.10|NM_020151.4" +HGNC:40827 STARD7-AS1 STARD7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 Antisense RNAs 1987 2013-10-14 2014-11-19 285033 ENSG00000204685 OTTHUMG00000155209 NR_046322 STARD7-AS1 HGNC:40827 +HGNC:19161 STARD8 StAR related lipid transfer domain containing 8 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "KIAA0189|ARHGAP38" START domain containing 8 "Rho GTPase activating proteins|StAR related lipid transfer domain containing" "721|759" 2002-08-28 2015-11-20 2020-04-02 9754 ENSG00000130052 OTTHUMG00000021748 uc004dxb.4 D80011 NM_014725 "CCDS14390|CCDS48134" Q92502 8724849 MGI:2448556 RGD:1560770 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/STARD8 300689 HGNC:19161 "ENST00000374599.8|NM_001142503.3" +HGNC:19162 STARD9 StAR related lipid transfer domain containing 9 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 "KIAA1300|KIF16A" START domain containing 9 "Kinesins|StAR related lipid transfer domain containing" "622|759" 2002-08-28 2015-11-20 2021-10-20 57519 ENSG00000159433 OTTHUMG00000175799 uc010udj.3 AB037721 NM_020759 CCDS53935 Q9P2P6 "10718198|16964419|22153075" MGI:3045258 RGD:1593360 614642 HGNC:19162 "ENST00000290607.12|NM_020759.3" +HGNC:10666 STARD10 StAR related lipid transfer domain containing 10 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 "NY-CO-28|CGI-52|PCTP2" SDCCAG28 "serologically defined colon cancer antigen 28|START domain containing 10" StAR related lipid transfer domain containing 759 1999-08-25 2003-02-07 2015-11-20 2020-04-01 10809 ENSG00000214530 OTTHUMG00000167954 uc001otb.4 AF039696 NM_006645 CCDS41688 Q9Y365 9610721 MGI:1860093 RGD:1306548 617382 HGNC:10666 "ENST00000334805.11|NM_006645.3" +HGNC:19164 STARD13 StAR related lipid transfer domain containing 13 protein-coding gene gene with protein product Approved 13q13.1 13q13.1 "GT650|DLC2|ARHGAP37" LINC00464 "START domain containing 13|long intergenic non-protein coding RNA 464" "Rho GTPase activating proteins|StAR related lipid transfer domain containing" "721|759" 2002-08-28 2015-11-20 2015-11-20 90627 ENSG00000133121 OTTHUMG00000016708 uc001uuw.4 AL049801 NM_001243466 "CCDS9350|CCDS9348|CCDS9349" Q9Y3M8 8812419 MGI:2385331 RGD:1564816 609866 HGNC:19164 "ENST00000336934.10|NM_178006.4" HGNC:19164 +HGNC:40873 STARD13-AS STARD13 antisense RNA non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 STARD13-AS2 "STARD13 antisense RNA 2 (non-protein coding)|STARD13 antisense RNA 2" Antisense RNAs 1987 2011-05-18 2013-02-18 2013-02-18 2016-10-05 100874241 ENSG00000236581 OTTHUMG00000016710 uc058wiv.1 NR_046693 STARD13-AS HGNC:40873 +HGNC:41453 STARD13-IT1 STARD13 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q13.1 13q13.1 STARD13 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-04 2015-02-25 2015-02-25 100874373 ENSG00000230300 OTTHUMG00000016706 uc058whh.1 STARD13-IT1 +HGNC:11360 STARP1 steroidogenic acute regulatory protein pseudogene 1 pseudogene pseudogene Approved 13q21.32 13q21.32 STARD1P1 steroidogenic acute regulator pseudogene 1 1996-04-24 2007-08-16 2011-01-11 6771 ENSG00000214266 OTTHUMG00000017030 U29106 NG_002464 7761400 PGOHUM00000256723 HGNC:11360 +HGNC:11362 STAT1 signal transducer and activator of transcription 1 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "STAT91|ISGF-3" transcription factor ISGF-3 components p91/p84 "signal transducer and activator of transcription 1, 91kD|signal transducer and activator of transcription 1, 91kDa" SH2 domain containing 741 1995-11-08 2015-11-09 2021-05-26 6772 ENSG00000115415 OTTHUMG00000132699 uc002usj.3 NM_007315 "CCDS2309|CCDS42793" P42224 7885841 MGI:103063 RGD:3771 "STAT1base: Mutation registry for STAT1 deficiency|http://structure.bmc.lu.se/idbase/STAT1base/|LRG_111|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_111.xml" 600555 119879 HGNC:11362 "ENST00000361099.8|NM_007315.4" HGNC:11362 +HGNC:11363 STAT2 signal transducer and activator of transcription 2 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 STAT113 "signal transducer and activator of transcription 2, 113kD|signal transducer and activator of transcription 2, 113kDa" SH2 domain containing 741 1995-11-08 2015-11-09 2021-05-26 6773 ENSG00000170581 OTTHUMG00000170760 uc001slc.4 BC051284 NM_005419 "CCDS55836|CCDS8917" P52630 7885841 MGI:103039 RGD:1311649 LRG_1329|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1329.xml 600556 434238 HGNC:11363 "ENST00000314128.9|NM_005419.4" HGNC:11363 +HGNC:11364 STAT3 signal transducer and activator of transcription 3 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 APRF signal transducer and activator of transcription 3 (acute-phase response factor) SH2 domain containing 741 1995-11-08 2016-04-04 2021-05-26 6774 ENSG00000168610 OTTHUMG00000150645 uc002hzl.2 BC014482 "NM_139276|NM_003150" "CCDS32657|CCDS59288|CCDS32656" P40763 7512451 MGI:103038 RGD:3772 "STAT3base: Mutation registry for Hyper-IgE syndrome|http://structure.bmc.lu.se/idbase/STAT3base/|LRG_112|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_112.xml" STAT3 102582 138523 objectId:2994 HGNC:11364 "ENST00000264657.10|NM_139276.3" HGNC:11364 +HGNC:11365 STAT4 signal transducer and activator of transcription 4 protein-coding gene gene with protein product Approved 2q32.2-q32.3 02q32.2-q32.3 SH2 domain containing 741 1995-11-08 2018-02-13 6775 ENSG00000138378 OTTHUMG00000132700 uc002usn.3 NM_003151 CCDS2310 Q14765 "8007943|8700208" MGI:103062 RGD:1305747 600558 320815 HGNC:11365 "ENST00000392320.7|NM_003151.4" +HGNC:55764 STAT4-AS1 STAT4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q32.2 02q32.2 Antisense RNAs 1987 2021-07-22 2021-07-22 2021-07-22 2021-07-22 105373805 ENSG00000231858 NR_136318 +HGNC:11366 STAT5A signal transducer and activator of transcription 5A protein-coding gene gene with protein product Approved 17q21.2 17q21.2 MGF STAT5 SH2 domain containing 741 1995-11-09 2016-10-05 6776 ENSG00000126561 OTTHUMG00000150725 uc002hzj.3 U43185 NM_003152 "CCDS11424|CCDS74067|CCDS74066" P42229 "7719937|8631883" MGI:103036 RGD:3773 601511 HGNC:11366 "ENST00000590949.6|NM_001288718.2" +HGNC:11367 STAT5B signal transducer and activator of transcription 5B protein-coding gene gene with protein product Approved 17q21.2 17q21.2 SH2 domain containing 741 1997-01-28 2021-05-26 6777 ENSG00000173757 OTTHUMG00000150724 uc002hzh.4 BC065227 NM_012448 CCDS11423 P51692 8631883 MGI:103035 RGD:3774 "STAT5Bbase: Mutation registry for Growth hormone insensitivity with immunodeficiency|http://structure.bmc.lu.se/idbase/STAT5Bbase/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/STAT5B|LRG_192|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_192.xml" STAT5B 604260 119882 HGNC:11367 "ENST00000293328.8|NM_012448.4" HGNC:11367 +HGNC:11368 STAT6 signal transducer and activator of transcription 6 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "D12S1644|IL-4-STAT" signal transducer and activator of transcription 6, interleukin-4 induced SH2 domain containing 741 1995-11-09 2016-03-11 2021-05-26 6778 ENSG00000166888 OTTHUMG00000171194 uc058psk.1 "BC005823|BQ028928" NM_003153 "CCDS8931|CCDS53804" P42226 "9605853|8085155" MGI:103034 RGD:1309063 LRG_1369|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1369.xml STAT6 601512 326078 objectId:2993 HGNC:11368 "ENST00000300134.8|NM_003153.5" +HGNC:11369 STATH statherin protein-coding gene gene with protein product Approved 4q13.3 04q13.3 STR Histatins and statherin 971 2001-06-22 2014-11-19 6779 ENSG00000126549 OTTHUMG00000129394 uc062xbr.1 NM_003154 "CCDS3533|CCDS33998" P02808 3502720 RGD:1589974 184470 HGNC:11369 "ENST00000246895.9|NM_003154.3" +HGNC:11370 STAU1 staufen double-stranded RNA binding protein 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 PPP1R150 protein phosphatase 1, regulatory subunit 150 STAU "staufen (Drosophila, RNA-binding protein)|staufen, RNA binding protein (Drosophila)|staufen, RNA binding protein, homolog 1 (Drosophila)" Protein phosphatase 1 regulatory subunits 694 1996-04-22 2005-11-04 2013-06-05 2016-10-05 6780 ENSG00000124214 OTTHUMG00000032691 uc002xud.3 NM_017453 "CCDS33481|CCDS13414|CCDS13415" O95793 "8884277|15680326" MGI:1338864 RGD:621778 601716 HGNC:11370 "ENST00000371856.7|NM_017453.4" +HGNC:11371 STAU2 staufen double-stranded RNA binding protein 2 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 39K2 "staufen (Drosophila, RNA-binding protein) homolog 2|staufen, RNA binding protein, homolog 2 (Drosophila)" 2000-01-07 2013-06-05 2013-06-05 27067 ENSG00000040341 OTTHUMG00000164499 uc003xzm.4 Y19062 NM_001164380 "CCDS6214|CCDS55247|CCDS55246|CCDS55248|CCDS55244|CCDS55245" Q9NUL3 10585778 MGI:1352508 RGD:621479 605920 HGNC:11371 "ENST00000524300.6|NM_001164380.2" +HGNC:44101 STAU2-AS1 STAU2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q21.11 08q21.11 STAU2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-22 2012-08-15 2012-10-12 100128126 ENSG00000253302 OTTHUMG00000164568 uc003xzl.4 AK056720 NR_038406 STAU2-AS1 HGNC:44101 +HGNC:55011 STAU2P1 STAU2 pseudogene 1 pseudogene pseudogene Approved Xq21.31 Xq21.31 2020-05-21 2020-05-21 100130134 ENSG00000227581 NG_022618 +HGNC:24854 STBD1 starch binding domain 1 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "FLJ41801|GENX-3414" genethonin 1 2007-07-17 2018-10-05 8987 ENSG00000118804 OTTHUMG00000130109 uc003hka.4 AF062534 NM_003943 CCDS3578 O95210 "9794794|8828038|27358407" MGI:1261768 RGD:1311800 607406 HGNC:24854 "ENST00000237642.7|NM_003943.5" +HGNC:11373 STC1 stanniocalcin 1 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 STC 1999-01-07 2015-08-26 6781 ENSG00000159167 OTTHUMG00000097853 uc003xdw.2 NM_003155 CCDS6043 P52823 9480753 MGI:109131 RGD:621776 601185 HGNC:11373 "ENST00000290271.7|NM_003155.3" +HGNC:11374 STC2 stanniocalcin 2 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 STC-2 1999-01-07 2015-08-26 8614 ENSG00000113739 OTTHUMG00000130542 uc003mco.2 AB012664 NM_003714 CCDS4388 O76061 "9723890|9753616" MGI:1316731 RGD:621777 603665 HGNC:11374 "ENST00000265087.9|NM_003714.3" +HGNC:11378 STEAP1 STEAP family member 1 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 PRSS24 STEAP "six transmembrane epithelial antigen of the prostate|six transmembrane epithelial antigen of the prostate 1|STEAP1 metalloreductase" "Serine proteases|STEAP family" "738|1324" 1999-12-10 2005-02-24 2016-07-27 2016-10-05 26872 ENSG00000164647 OTTHUMG00000023006 uc003ujx.3 AF186249 NM_012449 CCDS5614 Q9UHE8 MGI:1917608 RGD:1311543 604415 1.16.1.- HGNC:11378 "ENST00000297205.7|NM_012449.3" +HGNC:41907 STEAP1B STEAP family member 1B protein-coding gene gene with protein product Approved 7p15.3 07p15.3 STEAP family 1324 2011-05-19 2015-09-09 256227 ENSG00000105889 OTTHUMG00000152529 uc003svh.4 NM_001164460 "CCDS56469|CCDS55094" Q6NZ63 MGI:1917608 HGNC:41907 "ENST00000678116.1|NM_001382447.1" +HGNC:56137 STEAP1B-AS1 STEAP1B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p15.3 07p15.3 Antisense RNAs 1987 2022-01-12 2022-01-12 100506178 ENSG00000232759 NR_038393 +HGNC:17885 STEAP2 STEAP2 metalloreductase protein-coding gene gene with protein product Approved 7q21.13 07q21.13 "IPCA-1|STAMP1|STMP" PCANAP1 "prostate cancer associated protein 1|six transmembrane epithelial antigen of the prostate 2|STEAP family member 2, metalloreductase" STEAP family 1324 2002-09-12 2015-11-19 2016-07-27 261729 ENSG00000157214 OTTHUMG00000023341 uc010len.3 AF455138 NM_152999 "CCDS59064|CCDS43612|CCDS5615" Q8NFT2 "10613842|12095985" MGI:1921301 RGD:1307050 605094 1.16.1.- HGNC:17885 "ENST00000394621.7|NM_001244944.2" +HGNC:40820 STEAP2-AS1 STEAP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q21.13 07q21.13 STEAP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-30 2012-08-15 2021-07-29 100874100 ENSG00000227646 OTTHUMG00000065036 uc064fdm.1 NR_110029 STEAP2-AS1 HGNC:40820 +HGNC:24592 STEAP3 STEAP3 metalloreductase protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "TSAP6|dudlin-2|STMP3" STEAP family member 3, metalloreductase STEAP family 1324 2005-06-15 2015-11-19 2016-07-27 55240 ENSG00000115107 OTTHUMG00000131402 uc002tlp.4 AY029585 NM_018234 "CCDS42738|CCDS2125|CCDS82504" Q658P3 12606722 MGI:1915678 RGD:708552 609671 358321 1.16.1.- HGNC:24592 "ENST00000393110.7|NM_182915.3" HGNC:24592 +HGNC:41053 STEAP3-AS1 STEAP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q14.2 02q14.2 STEAP3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-30 2012-08-15 2014-11-19 100874111 ENSG00000229867 OTTHUMG00000153297 uc061nhy.1 NR_046721 STEAP3-AS1 HGNC:41053 +HGNC:21923 STEAP4 STEAP4 metalloreductase protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "FLJ23153|TIARP|STAMP2|SchLAH" seven chromosome locus associated with HCC TNFAIP9 "tumor necrosis factor, alpha-induced protein 9|STEAP family member 4" STEAP family 1324 2004-10-28 2005-06-15 2015-11-19 2017-02-15 79689 ENSG00000127954 OTTHUMG00000153853 uc003ujs.4 AK026806 NM_024636 "CCDS56494|CCDS43611" Q687X5 "11443137|15897894" MGI:1923560 RGD:1560331 611098 1.16.1.- HGNC:21923 "ENST00000380079.9|NM_024636.4" +HGNC:26239 STEEP1 STING1 ER exit protein 1 protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ22965 CXorf56 chromosome X open reading frame 56 "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2006-02-06 2020-12-03 2020-12-03 2020-12-03 63932 ENSG00000018610 OTTHUMG00000022276 uc011mtu.3 AK026618 NM_022101 "CCDS55485|CCDS55484" Q9H5V9 "29374277|31198491|32690950" MGI:1924894 RGD:1564541 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf56 301012 HGNC:26239 "ENST00000644802.2|NM_022101.4" HGNC:26239 +HGNC:18839 STH saitohin protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MAPTIT microtubule-associated protein tau (MAPT) intronic transcript 2008-01-22 2014-09-29 246744 ENSG00000256762 OTTHUMG00000168633 uc002ijy.2 AA325304 NM_001007532 CCDS54136 Q8IWL8 "12032355|16186110" 607067 HGNC:18839 "ENST00000537309.1|NM_001007532.3" +HGNC:10879 STIL STIL centriolar assembly protein protein-coding gene gene with protein product Approved 1p33 01p33 MCPH7 SIL "TAL1 (SCL) interrupting locus|SCL/TAL1 interrupting locus" 1997-11-05 2005-11-29 2019-01-21 2019-01-21 6491 ENSG00000123473 OTTHUMG00000007851 uc001cre.1 M74558 NM_003035 "CCDS548|CCDS72786|CCDS72785|CCDS41329" Q15468 "1922059|2209547" MGI:107477 RGD:1304972 STIL 181590 171649 HGNC:10879 "ENST00000371877.8|NM_001048166.1" HGNC:10879 +HGNC:11386 STIM1 stromal interaction molecule 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "GOK|D11S4896E" "Sterile alpha motif domain containing|MicroRNA protein coding host genes" "760|1691" 1997-02-05 2021-05-26 6786 ENSG00000167323 OTTHUMG00000133360 uc001lyv.3 "BC021300|U52426" NM_003156 "CCDS60706|CCDS7749|CCDS73247" Q13586 "8921403|11463338|11983428" MGI:107476 RGD:1306831 LRG_164|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_164.xml 605921 201300 HGNC:11386 "ENST00000526596.2|NM_001382567.1" HGNC:11386 +HGNC:40568 STIM1-AS1 STIM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2020-03-27 2020-03-27 105376527 ENSG00000228661 OTTHUMG00000012285 XR_930988 +HGNC:19205 STIM2 stromal interaction molecule 2 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 Sterile alpha motif domain containing 760 2002-09-24 2016-04-25 57620 ENSG00000109689 OTTHUMG00000097805 uc003gsg.6 AB040915 NM_020860 "CCDS54752|CCDS3440|CCDS54751" Q9P246 11463338 MGI:2151156 RGD:1304641 610841 HGNC:19205 "ENST00000467087.7|NM_020860.4" +HGNC:40879 STIM2-AS1 STIM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p15.2 04p15.2 Antisense RNAs 1987 2018-11-04 2018-11-04 105374546 ENSG00000240005 OTTHUMG00000159680 NR_134673 HGNC:40879 +HGNC:30526 STIMATE STIM activating enhancer protein-coding gene gene with protein product Approved 3p21.1 03p21.1 MGC52022 TMEM110 transmembrane protein 110 MicroRNA protein coding host genes 1691 2005-12-22 2017-10-16 2017-10-16 2017-10-16 375346 ENSG00000213533 OTTHUMG00000150346 uc062kra.1 BC047015 NM_198563 CCDS2866 Q86TL2 26322679 MGI:1921500 617189 HGNC:30526 "ENST00000355083.11|NM_198563.5" +HGNC:38834 STIMATE-MUSTN1 STIMATE-MUSTN1 readthrough other readthrough Approved 3p21.1 03p21.1 TMEM110-MUSTN1 TMEM110-MUSTN1 readthrough 2011-02-21 2019-01-04 2019-01-04 2019-01-04 100526772 ENSG00000248592 OTTHUMG00000160756 uc003dgc.5 NM_001198974 MGI:1921500 RGD:735152 HGNC:38834 +HGNC:27962 STING1 stimulator of interferon response cGAMP interactor 1 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "FLJ38577|NET23|ERIS|MPYS|STING|MITA" "stimulator of interferon genes|endoplasmic reticulum IFN stimulator" TMEM173 transmembrane protein 173 2006-08-24 2019-08-29 2019-08-29 2021-05-26 340061 ENSG00000184584 OTTHUMG00000129239 uc003lep.4 NM_198282 CCDS4215 Q86WV6 21947006 MGI:1919762 RGD:1562552 LRG_1308|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1308.xml 612374 438066 objectId:2902 HGNC:27962 "ENST00000330794.9|NM_198282.4" HGNC:27962 +HGNC:11387 STIP1 stress induced phosphoprotein 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HOP|STI1" Hsp70/Hsp90-organizing protein stress-induced-phosphoprotein 1 Tetratricopeptide repeat domain containing 769 1999-08-25 2015-11-20 2016-10-05 10963 ENSG00000168439 OTTHUMG00000167789 uc001nyk.2 BC039299 NM_006819 "CCDS8058|CCDS60827|CCDS60828" P31948 1569099 MGI:109130 RGD:621599 605063 HGNC:11387 "ENST00000305218.9|NM_006819.3" +HGNC:49552 STIP1P1 stress induced phosphoprotein 1 pseudogene 1 pseudogene pseudogene Approved 2q22.2 02q22.2 2014-01-13 2015-11-20 2015-11-20 100420434 NG_023736 PGOHUM00000259808 HGNC:49552 +HGNC:49553 STIP1P2 stress induced phosphoprotein 1 pseudogene 2 pseudogene pseudogene Approved 2q36.3 02q36.3 2014-01-13 2015-11-20 2015-11-20 100420436 NG_033153 PGOHUM00000259812 HGNC:49553 +HGNC:49554 STIP1P3 stress induced phosphoprotein 1 pseudogene 3 pseudogene pseudogene Approved Xq21.2 Xq21.2 2014-01-13 2015-11-20 2015-11-20 441505 ENSG00000225536 OTTHUMG00000021939 NG_022615 PGOHUM00000241423 HGNC:49554 +HGNC:11406 STK3 serine/threonine kinase 3 protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "MST2|KRS1" hippo (Drosophila) homolog serine/threonine kinase 3 (Ste20, yeast homolog) 1997-10-09 2010-06-25 2020-07-30 6788 ENSG00000104375 OTTHUMG00000164651 uc003yip.5 BC010640 NM_006281 "CCDS47900|CCDS75774|CCDS59108" Q13188 8816758 MGI:1928487 RGD:68412 605030 objectId:2219 HGNC:11406 "ENST00000419617.7|NM_006281.4" +HGNC:11408 STK4 serine/threonine kinase 4 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "MST1|KRS2|YSK3" "mammalian sterile 20-like 1|yeast Ste20-like|kinase responsive to stress 2|hippo (Drosophila) homolog" 1997-10-09 2021-04-13 6789 ENSG00000101109 OTTHUMG00000033059 uc002xnb.4 NM_006282 "CCDS86957|CCDS13341" Q13043 "8816758|9545236|11517310" MGI:1929004 RGD:1312035 LRG_535|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_535.xml 604965 317798 objectId:2225 2.7.11.1 HGNC:11408 "ENST00000372806.8|NM_006282.5" HGNC:11408 +HGNC:43811 STK4-DT STK4 divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 STK4-AS1 "STK4 antisense RNA 1 (non-protein coding)|STK4 antisense RNA 1|STK4 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-03-09 2021-07-30 2021-07-30 2021-07-30 100505826 ENSG00000227477 OTTHUMG00000032555 uc002xna.3 NR_038341 STK4-AS1 HGNC:43811 +HGNC:11388 STK10 serine/threonine kinase 10 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "LOK|PRO2729" lymphocyte-oriented kinase 1997-12-05 2014-12-01 6793 ENSG00000072786 OTTHUMG00000163265 uc003mbo.2 AB015718 NM_005990 CCDS34290 O94804 10199912 MGI:1099439 RGD:3779 603919 objectId:2211 HGNC:11388 "ENST00000176763.10|NM_005990.4" +HGNC:11389 STK11 serine/threonine kinase 11 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "PJS|LKB1" polarization-related protein LKB1 serine/threonine kinase 11 (Peutz-Jeghers syndrome) 1998-01-21 2005-12-13 2021-04-13 6794 ENSG00000118046 OTTHUMG00000180118 uc002lrl.2 U63333 NM_000455 CCDS45896 Q15831 9425897 MGI:1341870 RGD:1308653 LRG_319|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_319.xml STK11 602216 119884 objectId:2212 HGNC:11389 "ENST00000326873.12|NM_000455.5" HGNC:11389 +HGNC:19184 STK11IP serine/threonine kinase 11 interacting protein protein-coding gene gene with protein product Approved 2q35 02q35 "LIP1|KIAA1898|LKB1IP|STK11IP1" LKB1 interacting protein 2002-09-12 2014-11-19 114790 ENSG00000144589 OTTHUMG00000059239 uc002vml.3 AF450267 NM_052902 CCDS46521 Q8N1F8 11741830 MGI:1918978 RGD:1305046 607172 HGNC:19184 "ENST00000456909.6|NM_052902.4" +HGNC:11394 STK16 serine/threonine kinase 16 protein-coding gene gene with protein product Approved 2q35 02q35 "PKL12|MPSK" 1999-05-25 2015-08-26 8576 ENSG00000115661 OTTHUMG00000154520 uc002vko.3 AF060798 NM_001008910 "CCDS82573|CCDS86921|CCDS42822" O75716 9712705 MGI:1313271 RGD:629474 604719 objectId:2213 HGNC:11394 "ENST00000396738.7|NM_001330213.2" +HGNC:19283 STK16P1 serine/threonine kinase 16 pseudogene 1 pseudogene pseudogene Approved 14q21.3 14q21.3 STK16P serine/threonine kinase 16 pseudogene 2003-01-13 2010-04-16 2010-04-16 2020-04-07 326107 ENSG00000259155 OTTHUMG00000170875 NG_002530 PGOHUM00000248162 HGNC:19283 +HGNC:11395 STK17A serine/threonine kinase 17a protein-coding gene gene with protein product Approved 7p13 07p13 DRAK1 death-associated protein kinase-related 1 serine/threonine kinase 17a (apoptosis-inducing) Death associated protein kinases 1021 1999-05-21 2007-02-12 2014-11-19 9263 ENSG00000164543 OTTHUMG00000022825 uc003tih.4 AB011420 NM_004760 CCDS5470 Q9UEE5 9786912 604726 objectId:2214 HGNC:11395 "ENST00000319357.6|NM_004760.3" +HGNC:11396 STK17B serine/threonine kinase 17b protein-coding gene gene with protein product Approved 2q32.3 02q32.3 DRAK2 death-associated protein kinase-related 2 serine/threonine kinase 17b (apoptosis-inducing) Death associated protein kinases 1021 1999-05-21 2007-02-12 2016-10-05 9262 ENSG00000081320 OTTHUMG00000132735 uc010fsh.4 AB011421 NM_004226 CCDS2315 O94768 9786912 MGI:2138162 RGD:620457 604727 objectId:2215 HGNC:11396 "ENST00000263955.9|NM_004226.4" +HGNC:11398 STK19 serine/threonine kinase 19 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "D6S60|G11|RP1" 1999-01-22 2015-08-26 8859 ENSG00000204344 OTTHUMG00000166424 uc003nyv.4 X77474 NM_004197 CCDS4733 P49842 "8012361|9812991" MGI:1860085 RGD:1359601 604977 objectId:2216 HGNC:11398 "ENST00000685781.1|NM_004197.2" +HGNC:21668 STK19B serine/threonine kinase 19B (pseudogene) pseudogene pseudogene Approved 6p21.33 06p21.33 "bPG116M5.10|RP2" STK19P serine/threonine kinase 19 pseudogene 2003-09-01 2014-04-23 2016-01-06 2016-01-06 373159 ENSG00000250535 OTTHUMG00000031025 L26262 NG_029245 8132574 PGOHUM00000243587 HGNC:21668 +HGNC:11403 STK24 serine/threonine kinase 24 protein-coding gene gene with protein product Approved 13q32.2 13q32.2 "MST-3|MST3|MST3B|STK3|STE20" "STE20-like kinase 3|sterile 20-like kinase 3" serine/threonine kinase 24 (Ste20, yeast homolog) STRIPAK complex 1371 2000-02-11 2010-06-25 2016-10-05 8428 ENSG00000102572 OTTHUMG00000017250 uc001vnm.3 AF024636 NM_003576 "CCDS66573|CCDS32001|CCDS9488" Q9Y6E0 "9353338|10644707" MGI:2385007 RGD:1561742 604984 objectId:2217 HGNC:11403 "ENST00000539966.6|NM_001032296.4" +HGNC:39935 STK24-AS1 STK24 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.2 13q32.2 STK24 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-13 2012-08-15 2021-09-03 100874069 ENSG00000224418 OTTHUMG00000017249 uc058xye.1 NR_046542 STK24-AS1 HGNC:39935 +HGNC:50360 STK24P1 serine/threonine kinase 24 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 2014-04-23 2014-04-23 100421784 ENSG00000230079 OTTHUMG00000022506 NG_026770 PGOHUM00000241570 HGNC:50360 +HGNC:11404 STK25 serine/threonine kinase 25 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "SOK1|YSK1" serine/threonine kinase 25 (Ste20, yeast homolog) STRIPAK complex 1371 2000-01-18 2010-06-25 2014-11-19 10494 ENSG00000115694 OTTHUMG00000133408 uc002wbn.5 D63780 NM_006374 "CCDS2549|CCDS63200|CCDS63199" O00506 "8887545|9160885|15037601" MGI:1891699 RGD:727809 602255 objectId:2218 HGNC:11404 "ENST00000316586.9|NM_001271977.2" +HGNC:50361 STK25P1 serine/threonine kinase 25 pseudogene 1 pseudogene pseudogene Approved 18p11.21 18p11.21 2014-04-23 2014-04-23 100533662 ENSG00000267570 OTTHUMG00000181907 NG_028709 PGOHUM00000235004 HGNC:50361 +HGNC:18174 STK26 serine/threonine kinase 26 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "MST4|MASK" STE20-like kinase 4 STRIPAK complex 1371 2014-09-15 2016-12-13 2016-12-13 51765 ENSG00000134602 OTTHUMG00000022420 AB040057 NM_016542 "CCDS43995|CCDS48168|CCDS14631" Q9P289 11306563 MGI:1917665 RGD:1563568 300547 objectId:2287 HGNC:18174 "ENST00000394334.7|NM_016542.4" +HGNC:11407 STK31 serine/threonine kinase 31 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "TDRD8|SgK396" Tudor domain containing 780 2000-06-16 2014-11-19 56164 ENSG00000196335 OTTHUMG00000023053 uc003sws.6 AF285599 NM_031414 "CCDS59049|CCDS5386|CCDS43556" Q9BXU1 11279525 MGI:1924735 RGD:1564384 605790 objectId:2220 HGNC:11407 "ENST00000355870.8|NM_031414.5" +HGNC:28317 STK32A serine/threonine kinase 32A protein-coding gene gene with protein product Approved 5q32 05q32 "MGC22688|YANK1" AGC family kinases 1625 2004-04-20 2022-01-10 202374 ENSG00000169302 OTTHUMG00000163411 uc010jgn.2 NM_145001 "CCDS75351|CCDS47299|CCDS54931" Q8WU08 32571328 MGI:2442403 RGD:1308338 objectId:1537 HGNC:28317 "ENST00000397936.8|NM_001112724.2" +HGNC:53468 STK32A-AS1 STK32A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q32 05q32 CTC-255N20 Antisense RNAs 1987 2017-04-27 2017-04-27 105378217 ENSG00000250343 OTTHUMG00000163410 NR_147190 28415557 HGNC:53468 +HGNC:14217 STK32B serine/threonine kinase 32B protein-coding gene gene with protein product Approved 4p16.2 04p16.2 "STKG6|YANK2|STK32|HSA250839" AGC family kinases 1625 2004-04-20 2016-10-05 55351 ENSG00000152953 OTTHUMG00000090423 uc003gih.2 AJ250839 NM_018401 "CCDS3380|CCDS77895" Q9NY57 10700184 MGI:1927552 RGD:1306173 objectId:1538 HGNC:14217 "ENST00000282908.10|NM_018401.3" +HGNC:21332 STK32C serine/threonine kinase 32C protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "PKE|MGC23665|YANK3" AGC family kinases 1625 2004-04-20 2014-11-19 282974 ENSG00000165752 OTTHUMG00000019285 uc001lle.2 AK057849 NM_173575 "CCDS7666|CCDS81525|CCDS81527|CCDS81526" Q86UX6 MGI:2385336 RGD:1305864 objectId:1539 HGNC:21332 "ENST00000298630.8|NM_173575.4" +HGNC:14568 STK33 serine/threonine kinase 33 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 2001-02-09 2016-10-05 65975 ENSG00000130413 OTTHUMG00000140275 uc001mgk.3 AJ303380 NM_030906 "CCDS73254|CCDS7789|CCDS73253" Q9BYT3 11738831 MGI:2152419 RGD:1590972 607670 objectId:2221 HGNC:14568 "ENST00000687296.1|NM_001352389.2" +HGNC:26871 STK33P1 serine/threonine kinase 33 pseudogene 1 pseudogene pseudogene Approved 9q21.33 09q21.33 STK33ps STK33P serine/threonine kinase 33 pseudogene 2005-05-06 2010-03-10 2010-03-10 2014-11-19 553118 ENSG00000227412 OTTHUMG00000020122 AL451132 NG_009480 PGOHUM00000236668 HGNC:26871 +HGNC:16254 STK35 serine/threonine kinase 35 protein-coding gene gene with protein product Approved 20p13 20p13 "bA550O8.2|CLIK1" CLP-36 interacting kinase 2001-07-17 2016-08-10 140901 ENSG00000125834 OTTHUMG00000031688 uc002wfw.5 AL359916 NM_080836 CCDS13024 Q8TDR2 11973348 MGI:1914583 RGD:1310247 609370 objectId:2222 2.7.11.1 HGNC:16254 "ENST00000381482.8|NM_080836.4" +HGNC:17209 STK36 serine/threonine kinase 36 protein-coding gene gene with protein product Approved 2q35 02q35 "KIAA1278|FU" fused homolog (Drosophila) serine/threonine kinase 36 (fused homolog, Drosophila) Armadillo like helical domain containing 1492 2001-11-22 2010-06-25 2015-08-26 27148 ENSG00000163482 OTTHUMG00000133079 uc002viu.4 AB033104 NM_001243313 "CCDS58750|CCDS2421" Q9NRP7 10806483 MGI:1920831 RGD:1307318 607652 objectId:2223 HGNC:17209 "ENST00000295709.8|NM_015690.5" HGNC:17209 +HGNC:17847 STK38 serine/threonine kinase 38 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "NDR|NDR1" nuclear Dbf2-related 1 AGC family kinases 1625 2001-12-19 2018-05-17 11329 ENSG00000112079 OTTHUMG00000014598 uc003omh.3 NM_007271 CCDS4822 Q15208 7761441 MGI:2442572 RGD:1309455 606964 objectId:1517 HGNC:17847 "ENST00000229812.8|NM_007271.4" +HGNC:17848 STK38L serine/threonine kinase 38 like protein-coding gene gene with protein product Approved 12p11.23 12p11.23 "KIAA0965|NDR2" nuclear Dbf2-related 2 AGC family kinases 1625 2001-12-21 2014-11-19 23012 ENSG00000211455 OTTHUMG00000169284 uc001rhr.4 AB023182 NM_015000 CCDS31761 Q9Y2H1 16488889 MGI:1922250 RGD:1564793 615836 objectId:1518 HGNC:17848 "ENST00000389032.8|NM_015000.4" +HGNC:17717 STK39 serine/threonine kinase 39 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "DCHT|SPAK" STE20/SPS1 homolog (yeast) serine threonine kinase 39 2002-01-14 2015-11-19 2015-11-19 27347 ENSG00000198648 OTTHUMG00000133745 uc002uea.4 AF099989 NM_013233 CCDS42770 Q9UEW8 10980603 MGI:1858416 RGD:621643 607648 objectId:2224 HGNC:17717 "ENST00000355999.5|NM_013233.3" +HGNC:21373 STK40 serine/threonine kinase 40 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "MGC4796|SgK495" 2005-05-03 2014-11-19 83931 ENSG00000196182 OTTHUMG00000008238 uc001cam.3 BC008344 NM_032017 "CCDS60089|CCDS407" Q8N2I9 MGI:1921428 RGD:727884 609437 objectId:2226 HGNC:21373 "ENST00000373132.4|NM_001282547.2" +HGNC:28669 STKLD1 serine/threonine kinase like domain containing 1 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "MGC43306|SGK071" C9orf96 chromosome 9 open reading frame 96 2004-03-11 2014-05-29 2016-06-15 2022-01-10 169436 ENSG00000198870 OTTHUMG00000020862 BC036504 NM_153710 CCDS35169 Q8NE28 30945277 MGI:2685557 RGD:1307355 618530 objectId:1951 HGNC:28669 "ENST00000371957.4|NM_153710.5" HGNC:28669 +HGNC:6510 STMN1 stathmin 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SMN|OP18|PR22|PP19|PP17|Lag|FLJ32206" oncoprotein 18 "LAP18|C1orf215" "chromosome 1 open reading frame 215|stathmin 1/oncoprotein 18" "Stathmins|MicroRNA protein coding host genes" "1138|1691" 1990-12-17 2001-07-13 2009-04-28 2014-11-19 3925 ENSG00000117632 OTTHUMG00000007389 uc001blc.4 J04991 NM_005563 "CCDS44090|CCDS269" P16949 2917975 MGI:96739 RGD:2992 151442 HGNC:6510 "ENST00000455785.7|NM_005563.4" +HGNC:44062 STMN1P1 stathmin 1 pseudogene 1 pseudogene pseudogene Approved 12p11.21 12p11.21 2012-05-30 2015-01-30 100506685 ENSG00000276058 OTTHUMG00000186659 NG_030122 PGOHUM00000291284 HGNC:44062 +HGNC:44063 STMN1P2 stathmin 1 pseudogene 2 pseudogene pseudogene Approved 4q28.3 04q28.3 2012-05-30 2014-11-19 100289663 ENSG00000251440 OTTHUMG00000161277 NG_030216 PGOHUM00000245706 HGNC:44063 +HGNC:10577 STMN2 stathmin 2 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 SCG10 SCGN10 stathmin-like 2 Stathmins 1138 2000-03-29 2001-07-13 2014-04-01 2014-11-19 11075 ENSG00000104435 OTTHUMG00000164610 uc003ybj.3 NM_007029 "CCDS56542|CCDS43748" Q93045 "8622778|12140291" MGI:98241 RGD:68947 600621 HGNC:10577 "ENST00000220876.12|NM_007029.4" +HGNC:15926 STMN3 stathmin 3 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 SCLIP stathmin-like 3 Stathmins 1138 2001-08-01 2015-11-16 2016-10-05 50861 ENSG00000197457 OTTHUMG00000032985 uc002yfr.3 AF069709 NM_015894 "CCDS13529|CCDS63330" Q9NZ72 "9603203|10655513" MGI:1277137 RGD:3628 608362 HGNC:15926 "ENST00000370053.3|NM_015894.4" +HGNC:16078 STMN4 stathmin 4 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 RB3 stathmin-like 4 Stathmins 1138 2001-07-16 2015-11-16 2015-11-16 81551 ENSG00000015592 OTTHUMG00000099461 uc003xfk.5 NM_030795 "CCDS64854|CCDS64852|CCDS6055|CCDS64851" Q9H169 11230166 MGI:1931224 RGD:69349 HGNC:16078 "ENST00000350889.9|NM_030795.4" +HGNC:44668 STMND1 stathmin domain containing 1 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 FLJ23152 2012-12-11 2012-12-11 401236 ENSG00000230873 OTTHUMG00000014304 uc021ymc.1 AK026805 NM_001190766 CCDS58997 H3BQB6 MGI:2686420 RGD:1564013 HGNC:44668 "ENST00000536551.6|NM_001190766.2" +HGNC:41909 STMP1 short transmembrane mitochondrial protein 1 protein-coding gene gene with protein product Approved 7q33 07q33 "PL-5283|Mm47" C7orf73 chromosome 7 open reading frame 73 2011-08-04 2017-07-28 2017-07-28 2019-12-17 647087 ENSG00000243317 OTTHUMG00000155495 uc003vsy.4 NM_001130929 CCDS55168 E0CX11 "23073385|17720804" MGI:1914955 RGD:1591053 618755 HGNC:41909 "ENST00000507606.3|NM_001130929.2" +HGNC:26200 STN1 STN1 subunit of CST complex protein-coding gene gene with protein product Approved 10q24.33 10q24.33 "FLJ22559|bA541N10.2" OBFC1 "oligonucleotide/oligosaccharide binding fold containing 1|STN1, CST complex subunit" CST complex 1343 2004-03-16 2016-10-04 2019-01-25 2021-05-26 79991 ENSG00000107960 OTTHUMG00000018996 uc001kxm.4 BC017400 NM_024928 CCDS7552 Q9H668 19648609 MGI:1915581 RGD:1305637 613128 353238 HGNC:26200 "ENST00000224950.8|NM_024928.5" HGNC:26200 +HGNC:3383 STOM stomatin protein-coding gene gene with protein product Approved 9q33.2 09q33.2 BND7 "EPB7|EPB72" erythrocyte membrane protein band 7.2 (stomatin) Stomatin family 1734 1992-09-14 2002-11-15 2002-11-11 2016-10-05 2040 ENSG00000148175 OTTHUMG00000020590 uc004blh.5 NM_004099 "CCDS75892|CCDS6831|CCDS6830" P27105 1883838 MGI:95403 RGD:1305109 133090 471166 HGNC:3383 "ENST00000286713.7|NM_004099.6" +HGNC:14560 STOML1 stomatin like 1 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "hUNC-24|SLP-1|STORP|FLJ36370" "stomatin-like 1|stomatin (EBP72)-like 1|EPB72-like 1" stomatin (EPB72)-like 1 Stomatin family 1734 2001-02-27 2015-12-01 2015-12-01 9399 ENSG00000067221 OTTHUMG00000137608 uc002awe.5 Y16522 NM_004809 "CCDS10254|CCDS58382|CCDS58385|CCDS58383|CCDS58384|CCDS58381" Q9UBI4 9931417 MGI:1916356 RGD:1559463 608326 HGNC:14560 "ENST00000541638.6|NM_004809.5" +HGNC:14559 STOML2 stomatin like 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "SLP-2|HSPC108" EPB72-like 2 stomatin (EPB72)-like 2 Stomatin family 1734 2001-02-05 2015-12-01 2016-10-05 30968 ENSG00000165283 OTTHUMG00000019851 uc003zwi.5 AF190167 NM_013442 "CCDS6577|CCDS75830|CCDS69588" Q9UJZ1 "10713127|17121834" MGI:1913842 RGD:1308285 608292 HGNC:14559 "ENST00000356493.10|NM_013442.3" +HGNC:19420 STOML3 stomatin like 3 protein-coding gene gene with protein product Approved 13q13.2 13q13.2 "SRO|Epb7.2l" EPB72-like 3 stomatin (EPB72)-like 3 Stomatin family 1734 2002-11-11 2015-12-01 2015-12-01 161003 ENSG00000133115 OTTHUMG00000016763 uc001uwx.4 BC025760 NM_001144033 "CCDS9367|CCDS45040" Q8TAV4 12122055 MGI:2388072 RGD:1311090 608327 HGNC:19420 "ENST00000379631.9|NM_145286.3" +HGNC:17003 STON1 stonin 1 protein-coding gene gene with protein product Approved 2p16.3 02p16.3 "SBLF|stoned-b1" stoned B homolog 1 (Drosophila) 2006-02-10 2015-09-08 11037 ENSG00000243244 OTTHUMG00000129169 uc010fbm.4 AF026169 NM_006873 CCDS1841 Q9Y6Q2 "14504226|10364255" MGI:1924307 RGD:727878 605357 HGNC:17003 "ENST00000404752.6|NM_006873.4" +HGNC:30651 STON1-GTF2A1L STON1-GTF2A1L readthrough other readthrough Approved 2p16.3 02p16.3 SALF stoned B/TFIIA alpha/beta like factor 2007-07-31 2014-11-19 286749 ENSG00000068781 OTTHUMG00000152037 uc061jag.1 AF026169 NM_001198593 "10364255|11159353" MGI:1924307 HGNC:30651 +HGNC:30652 STON2 stonin 2 protein-coding gene gene with protein product Approved 14q31.1 14q31.1 "STNB2|STN2" stoned B homolog 2 (Drosophila) 2006-02-10 2015-02-24 85439 ENSG00000140022 OTTHUMG00000171416 uc059dyl.1 AB208948 NM_033104 CCDS58332 Q8WXE9 "11381094|11454741" MGI:1918272 RGD:1311502 608467 HGNC:30652 "ENST00000614646.5|NM_001394390.1" +HGNC:23508 STOX1 storkhead box 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 FLJ25162 C10orf24 chromosome 10 open reading frame 24 2003-11-21 2005-04-04 2005-04-04 2014-11-19 219736 ENSG00000165730 OTTHUMG00000018367 uc001jos.3 AK057891 NM_152709 "CCDS44417|CCDS41535|CCDS44416" Q6ZVD7 MGI:2684909 RGD:1310622 609397 361372 HGNC:23508 "ENST00000298596.11|NM_152709.5" +HGNC:25450 STOX2 storkhead box 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 DKFZp762K222 2005-04-04 2015-08-26 56977 ENSG00000173320 OTTHUMG00000160618 uc003ivz.2 AB037813 NM_020225 CCDS47167 Q9P2F5 MGI:1918319 RGD:708477 617359 HGNC:25450 "ENST00000308497.9|NM_020225.3" +HGNC:28070 STPG1 sperm tail PG-rich repeat containing 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "FLJ33340|MAPO2" O6-methylguanine-induced apoptosis 2 C1orf201 chromosome 1 open reading frame 201 2006-02-15 2012-07-30 2016-02-26 2016-02-26 90529 ENSG00000001460 OTTHUMG00000003297 uc001bja.4 BC047705 NM_178122 "CCDS253|CCDS55581" Q5TH74 23028632 MGI:1926056 RGD:1560169 615826 HGNC:28070 "ENST00000337248.9|NM_001199013.2" +HGNC:28712 STPG2 sperm tail PG-rich repeat containing 2 protein-coding gene gene with protein product Approved 4q22.3-q23 04q22.3-q23 MGC46496 C4orf37 chromosome 4 open reading frame 37 2007-06-14 2012-07-30 2016-02-26 2018-02-13 285555 ENSG00000163116 OTTHUMG00000131009 uc003htt.3 BC036870 NM_174952 CCDS3645 Q8N412 23031811 MGI:2685863 RGD:1591946 HGNC:28712 "ENST00000295268.4|NM_174952.3" +HGNC:41209 STPG2-AS1 STPG2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q22.3 04q22.3 STPG2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-07-30 2012-08-15 2014-11-19 101410545 ENSG00000251620 OTTHUMG00000161180 uc031sgo.1 DA719663 NR_102713 STPG2-AS1 HGNC:41209 +HGNC:37285 STPG3 sperm-tail PG-rich repeat containing 3 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FLJ40246 C9orf173 chromosome 9 open reading frame 173 2009-10-02 2016-04-22 2016-04-22 2016-11-01 441476 ENSG00000197768 OTTHUMG00000187404 uc004cmj.2 NM_001004353 "CCDS48065|CCDS59156|CCDS75941|CCDS75940" Q8N7X2 MGI:1921722 RGD:1561978 HGNC:37285 "ENST00000412566.6|NM_001004353.4" +HGNC:51176 STPG3-AS1 STPG3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q34.3 09q34.3 C9orf173-AS1 C9orf173 antisense RNA 1 Antisense RNAs 1987 2014-07-31 2016-08-12 2016-08-12 2016-08-12 100129722 ENSG00000275549 OTTHUMG00000187409 AK097764 NR_038389 HGNC:51176 +HGNC:26850 STPG4 sperm-tail PG-rich repeat containing 4 protein-coding gene gene with protein product Approved 2p21 02p21 FLJ40172 C2orf61 chromosome 2 open reading frame 61 2007-07-10 2017-03-17 2017-03-17 2017-03-17 285051 ENSG00000239605 OTTHUMG00000128851 uc002rvs.3 AK097491 NM_173649 "CCDS1831|CCDS54356" Q8N801 MGI:1922717 RGD:1591638 HGNC:26850 "ENST00000445927.7|NM_001163561.2" +HGNC:30650 STRA6 signaling receptor and transporter of retinol STRA6 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 FLJ12541 "retinol binding protein 4 receptor|RBP receptor" "stimulated by retinoic acid gene 6 homolog (mouse)|stimulated by retinoic acid 6" 2004-12-20 2019-10-09 2021-05-26 64220 ENSG00000137868 OTTHUMG00000138998 uc059lgy.1 AF352728 NM_001142617 "CCDS55973|CCDS45302|CCDS45301|CCDS55974|CCDS10261|CCDS58387" Q9BX79 "17255476|17273977|27563101" MGI:107742 RGD:1307551 LOVD|http://lsdb.hgu.mrc.ac.uk/home.php?select_db=STRA6 610745 138526 HGNC:30650 "ENST00000395105.9|NM_022369.4" HGNC:30650 +HGNC:53830 STRA6LP STRA6 like, pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 2018-03-28 2021-08-03 112272565 ENSG00000254633 OTTHUMG00000166999 NG_056705 MGI:1921402 HGNC:53830 +HGNC:30653 STRA8 stimulated by retinoic acid 8 protein-coding gene gene with protein product Approved 7q33 07q33 "stimulated by retinoic acid gene 8 homolog (mouse)|stimulated by retinoic acid 8 homolog (mouse)" 2006-10-20 2012-12-07 2017-09-08 346673 ENSG00000146857 OTTHUMG00000155415 uc011kpx.2 AF513502 NM_182489 CCDS5839 Q7Z7C7 "12489526|27563101" MGI:107917 RGD:1562852 609987 HGNC:30653 "ENST00000662584.2|NM_001394401.1" HGNC:30653 +HGNC:30172 STRADA STE20 related adaptor alpha protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "NY-BR-96|LYK5|Stlk|STRAD" STE20-like pseudokinase STE20-related kinase adaptor alpha 2008-09-15 2018-11-09 2018-11-09 92335 ENSG00000266173 OTTHUMG00000178908 uc002jbm.4 AF308302 NM_001003786 "CCDS86625|CCDS58585|CCDS86632|CCDS86630|CCDS32703|CCDS42367|CCDS86633|CCDS86626|CCDS54156|CCDS11642" Q7RTN6 "12805220|17921699" MGI:1919399 RGD:727905 608626 objectId:2227 HGNC:30172 "ENST00000336174.12|NM_001003787.4" HGNC:30172 +HGNC:13205 STRADB STE20 related adaptor beta protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CALS-21|PAPK|ILPIPA|ILPIP" ALS2CR2 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2|STE20-related kinase adaptor beta" 2001-02-13 2008-09-15 2018-11-09 2018-11-09 55437 ENSG00000082146 OTTHUMG00000132831 uc002uyd.5 AB038950 NM_018571 "CCDS2348|CCDS56161" Q9C0K7 "11161814|14511394" MGI:2144047 RGD:1559449 607333 objectId:2228 HGNC:13205 "ENST00000194530.8|NM_018571.6" +HGNC:22478 STRADBP1 STE20-related kinase adaptor beta pseudogene 1 pseudogene pseudogene Approved 7q36.1 07q36.1 "STLK6ps1|ALS2CR2P1" 2010-09-30 2010-09-30 389599 ENSG00000213205 OTTHUMG00000157619 AC092025 NG_005932 HGNC:22478 +HGNC:30796 STRAP serine/threonine kinase receptor associated protein protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "UNRIP|pt-wd|MAWD" "Unr-interacting protein|mitogen-activated protein kinase activator with WD repeats|MAPK activator with WD repeats" "WD repeat domain containing|SMN complex" "362|1500" 2004-04-19 2019-11-29 11171 ENSG00000023734 OTTHUMG00000168791 uc001rdc.5 AB024327 NM_007178 CCDS8676 Q9Y3F4 MGI:1329037 RGD:1311114 605986 HGNC:30796 "ENST00000419869.7|NM_007178.4" +HGNC:16462 STRBP spermatid perinuclear RNA binding protein protein-coding gene gene with protein product Approved 9q33.1-q33.3 09q33.1-q33.3 "FLJ11307|SPNR" ILF3L "spermatid perinuclear RNA-binding protein|interleukin enhancer binding factor 3-like" 2001-08-30 2001-11-28 2014-11-18 55342 ENSG00000165209 OTTHUMG00000020636 uc004bns.4 AK002169 NM_001171137 "CCDS6851|CCDS55337" Q96SI9 MGI:104626 RGD:620673 611138 HGNC:16462 "ENST00000348403.10|NM_018387.5" +HGNC:16035 STRC stereocilin protein-coding gene gene with protein product Approved 15q15.3 15q15.3 DFNB16 2001-10-03 2021-05-26 161497 ENSG00000242866 OTTHUMG00000059899 uc001zsf.4 BK000138 NM_153700 CCDS10098 Q7RTU9 "11687802|9429146" MGI:2153816 RGD:1593345 606440 159178 HGNC:16035 "ENST00000450892.7|NM_153700.2" HGNC:16035 +HGNC:33915 STRCP1 stereocilin pseudogene 1 pseudogene pseudogene Approved 15q15.3 15q15.3 STRCP stereocilin pseudogene 2007-12-17 2010-02-26 2010-02-26 2014-11-19 554225 ENSG00000166763 OTTHUMG00000059934 NR_146078 A6NGW2 12825070 MGI:2153816 HGNC:33915 +HGNC:25916 STRIP1 striatin interacting protein 1 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "FLJ14743|KIAA1761|FAR11A" FAR11 factor arrest 11 homolog A (yeast) FAM40A family with sequence similarity 40, member A STRIPAK complex 1371 2004-05-20 2012-11-05 2012-11-05 2014-11-19 85369 ENSG00000143093 OTTHUMG00000170607 uc001dza.3 AK027649 NM_033088 "CCDS59197|CCDS30798" Q5VSL9 "11214970|12588993|22782902|22298706|18782753" MGI:2443884 RGD:1564249 617918 HGNC:25916 "ENST00000369795.8|NM_033088.4" +HGNC:22209 STRIP2 striatin interacting protein 2 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "KIAA1170|FAR11B" FAR11 factor arrest 11 homolog B (yeast) FAM40B family with sequence similarity 40, member B STRIPAK complex 1371 2004-05-20 2012-11-05 2012-11-05 2016-10-05 57464 ENSG00000128578 OTTHUMG00000157695 uc011koy.3 AB032996 NM_001134336 "CCDS34752|CCDS47709" Q9ULQ0 "22782902|22298706|18782753" MGI:2444363 RGD:1588437 617919 HGNC:22209 "ENST00000249344.7|NM_020704.3" HGNC:22209 +HGNC:52297 STRIT1 small transmembrane regulator of ion transport 1 protein-coding gene gene with protein product Approved 3q25.2 03q25.2 DWORF 2019-03-17 2019-03-20 100507537 ENSG00000240045 OTTHUMG00000158471 NM_001352129 CCDS87158 P0DN84 "26816378|28436536" MGI:5593461 616891 HGNC:52297 "ENST00000489090.2|NM_001352129.2" +HGNC:11424 STRN striatin protein-coding gene gene with protein product Approved 2p22.2 02p22.2 "PPP2R6A|STRN1" protein phosphatase 2 regulatory subunit B'''alpha striatin, calmodulin-binding protein "WD repeat domain containing|Protein phosphatase 2 regulatory subunits|STRIPAK complex" "362|696|1371" 1998-03-25 2015-11-23 2016-12-13 6801 ENSG00000115808 OTTHUMG00000100959 uc002rpn.4 AJ223814 NM_003162 CCDS1784 O43815 "9693043|8769426" MGI:1333757 RGD:3782 STRN 614765 HGNC:11424 "ENST00000263918.9|NM_003162.4" +HGNC:15720 STRN3 striatin 3 protein-coding gene gene with protein product Approved 14q12 14q12 "SG2NA|PPP2R6B|S/G2NA" "cell cycle S/G2 nuclear autoantigen|protein phosphatase 2 regulatory subunit B'''beta" striatin, calmodulin binding protein 3 "WD repeat domain containing|Protein phosphatase 2 regulatory subunits|STRIPAK complex|MicroRNA protein coding host genes" "362|696|1371|1691" 2002-07-22 2015-11-23 2016-12-13 29966 ENSG00000196792 OTTHUMG00000140201 uc001wqv.2 NM_014574 "CCDS41938|CCDS9641" Q13033 "7864889|10681496" MGI:2151064 RGD:621827 614766 HGNC:15720 "ENST00000357479.10|NM_001083893.2" +HGNC:15721 STRN4 striatin 4 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "ZIN|PPP2R6C" "protein phosphatase 2 regulatory subunit B'''gamma|zinedin" striatin, calmodulin binding protein 4 "WD repeat domain containing|Protein phosphatase 2 regulatory subunits|STRIPAK complex" "362|696|1371" 2002-12-04 2015-11-23 2016-12-13 29888 ENSG00000090372 OTTHUMG00000183432 uc002pfl.4 AF212940 NM_001039877 "CCDS42581|CCDS12690" Q9NRL3 10748158 MGI:2142346 RGD:1307030 614767 HGNC:15721 "ENST00000263280.11|NM_013403.3" +HGNC:11425 STS steroid sulfatase protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 ARSC "arylsulfatase C|steryl-sulfatase" ARSC1 "steroid sulfatase (microsomal), arylsulfatase C, isozyme S|steroid sulfatase (microsomal), isozyme S" "Sulfatases|MicroRNA protein coding host genes" "410|1691" 1986-01-01 2017-01-18 2017-01-18 412 ENSG00000101846 OTTHUMG00000021102 uc004cry.5 M16505 NM_000351 CCDS14127 P08842 MGI:98438 RGD:3783 300747 119888 3.1.6.2 HGNC:11425 "ENST00000674429.1|NM_001320752.2" HGNC:11425 +HGNC:11426 STSP1 steroid sulfatase (microsomal) pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 STS-Y STSP steroid sulfatase (microsomal) pseudogene 2001-06-22 2010-04-19 2010-04-19 2016-10-05 6803 ENSG00000227166 OTTHUMG00000036409 M23946 NG_001197 3203382 PGOHUM00000233967 HGNC:11426 +HGNC:6172 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "TMC|MGC9042|STT3-A" dolichyl-diphosphooligosaccharide protein glycotransferase ITM1 "integral membrane protein 1|STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)|STT3A, catalytic subunit of the oligosaccharyltransferase complex" "STT3 oligosaccharyltransferase catalytic subunits|Oligosaccharyltransferase complex subunits" "444|445" 1996-08-01 2006-02-07 2019-01-25 2021-05-26 3703 ENSG00000134910 OTTHUMG00000165852 uc001qcd.4 BC020965 NM_152713 "CCDS8458|CCDS60998" P46977 "8941377|8634329|10234787" MGI:105124 RGD:1565793 601134 377662 2.4.99.18 HGNC:6172 "ENST00000392708.9|NM_152713.5" HGNC:6172 +HGNC:44585 STT3A-AS1 STT3A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 Antisense RNAs 1987 2012-11-19 2012-11-19 105369550 ENSG00000254671 OTTHUMG00000165869 uc058iva.1 "DB470444|DB453285" NR_132372 STT3A-AS1 HGNC:44585 +HGNC:30611 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B protein-coding gene gene with protein product Approved 3p23 03p23 "SIMP|FLJ90106|STT3-B" "source of immunodominant MHC associated peptides|dolichyl-diphosphooligosaccharide protein glycotransferase|Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B" "STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)|STT3B, catalytic subunit of the oligosaccharyltransferase complex" "STT3 oligosaccharyltransferase catalytic subunits|Oligosaccharyltransferase complex subunits" "444|445" 2006-02-07 2019-01-25 2021-05-26 201595 ENSG00000163527 OTTHUMG00000130673 uc011axe.3 AK027789 NM_178862 CCDS2650 Q8TCJ2 "12887896|12439619" MGI:1915542 RGD:1311563 608605 377672 2.4.99.18 HGNC:30611 "ENST00000295770.4|NM_178862.3" HGNC:30611 +HGNC:11427 STUB1 STIP1 homology and U-box containing protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "UBOX1|CHIP|SDCCAG7|HSPABP2|NY-CO-7" "U-box domain containing|Tetratricopeptide repeat domain containing" "365|769" 1999-11-25 2016-03-23 2021-05-26 10273 ENSG00000103266 OTTHUMG00000121140 uc002cit.4 AF039689 NM_005861 "CCDS10419|CCDS76797" Q9UNE7 "10330192|9610721" MGI:1891731 RGD:1306167 607207 395106 HGNC:11427 "ENST00000219548.9|NM_005861.4" HGNC:11427 +HGNC:54519 STUB1-DT STUB1 divergent transcript non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 LA16c-313D11.9 LINC02867 long intergenic non-protein coding RNA 2867 Divergent transcripts 1990 2019-09-18 2020-12-21 2020-12-21 2020-12-21 105371184 ENSG00000260394 NR_136337 26807189 HGNC:54519 +HGNC:54743 STUB1P1 STUB1 pseudogene 1 pseudogene pseudogene Approved 2q31.2 02q31.2 2019-12-19 2019-12-19 391465 ENSG00000226273 NG_021591 +HGNC:30491 STUM stum, mechanosensory transduction mediator homolog protein-coding gene gene with protein product Approved 1q42.12 01q42.12 DKFZp761P211 stumble homolog (Drosophila) C1orf95 chromosome 1 open reading frame 95 2005-05-31 2016-05-17 2016-05-17 2016-05-17 375057 ENSG00000203685 OTTHUMG00000037583 uc057pyu.1 AF035308 NM_001003665 CCDS31044 Q69YW2 24626929 MGI:2138735 RGD:1592263 HGNC:30491 "ENST00000366788.8|NM_001003665.4" +HGNC:11433 STX1A syntaxin 1A protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "HPC-1|p35-1" STX1 syntaxin 1A (brain) Syntaxins 818 1992-09-09 2015-11-26 2016-10-05 6804 ENSG00000106089 OTTHUMG00000137422 uc003tyx.4 NM_004603 "CCDS55120|CCDS34655" Q16623 1321498 MGI:109355 RGD:69430 186590 371333 HGNC:11433 "ENST00000222812.8|NM_004603.4" +HGNC:18539 STX1B syntaxin 1B protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "STX1B1|STX1B2" "syntaxin 1B1|syntaxin 1B2" Syntaxins 818 2002-04-26 2007-06-20 2007-06-20 2021-05-26 112755 ENSG00000099365 OTTHUMG00000132391 uc010cad.3 AY028792 NM_052874 CCDS10699 P61266 MGI:1930705 RGD:3784 601485 419164 HGNC:18539 "ENST00000215095.11|NM_052874.5" HGNC:18539 +HGNC:3403 STX2 syntaxin 2 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 EPM "STX2B|STX2C|STX2A|EPIM" epimorphin Syntaxins 818 1994-07-04 2006-04-25 2006-04-25 2021-12-09 2054 ENSG00000111450 OTTHUMG00000168365 uc001uio.6 D14582 NM_194356 "CCDS9269|CCDS9270" P32856 "8938452|15943887" MGI:108059 RGD:2558 132350 HGNC:3403 "ENST00000392373.7|NM_194356.4" HGNC:3403 +HGNC:11438 STX3 syntaxin 3 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 STX3A syntaxin 3A Syntaxins 818 1995-11-23 2006-04-25 2006-04-25 2021-05-26 6809 ENSG00000166900 OTTHUMG00000167353 uc001nog.4 AJ002076 NM_004177 "CCDS7975|CCDS53637" Q13277 "16598260|16339081" MGI:103077 RGD:621005 600876 406595 HGNC:11438 "ENST00000337979.9|NM_004177.5" HGNC:11438 +HGNC:11439 STX4 syntaxin 4 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 p35-2 STX4A syntaxin 4A (placental) Syntaxins 818 1995-11-23 2006-04-25 2006-04-25 2014-11-18 6810 ENSG00000103496 OTTHUMG00000132404 uc002eal.5 AF026007 NM_004604 "CCDS10700|CCDS61916" Q12846 "8206394|16339081" MGI:893577 RGD:621019 186591 HGNC:11439 "ENST00000313843.8|NM_004604.5" +HGNC:11440 STX5 syntaxin 5 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 SED5 STX5A syntaxin 5A Syntaxins 818 1995-11-23 2006-04-25 2006-04-25 2014-11-19 6811 ENSG00000162236 OTTHUMG00000143864 uc001nvh.4 U26648 NM_003164 "CCDS81578|CCDS8038|CCDS58140" Q13190 "9188044|11959998" MGI:1928483 RGD:68426 603189 HGNC:11440 "ENST00000294179.8|NM_003164.5" +HGNC:55488 STX5-DT STX5 divergent transcript non-coding RNA RNA, long non-coding Approved 11q12.3 11q12.3 Divergent transcripts 1990 2021-03-11 2021-03-11 105369332 ENSG00000256690 NR_135084 +HGNC:11441 STX6 syntaxin 6 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 Syntaxins 818 1998-11-30 2014-11-18 10228 ENSG00000135823 OTTHUMG00000035179 uc021pfr.3 AJ002078 NM_005819 "CCDS1341|CCDS65738" O43752 10080545 MGI:1926235 RGD:61915 603944 HGNC:11441 "ENST00000258301.6|NM_005819.6" +HGNC:11442 STX7 syntaxin 7 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 Syntaxins 818 1998-11-30 2016-10-05 8417 ENSG00000079950 OTTHUMG00000015577 uc003qdg.3 U77942 NM_001326578 "CCDS87441|CCDS5153" O15400 9358037 MGI:1858210 RGD:619747 603217 HGNC:11442 "ENST00000367941.7|NM_003569.3" +HGNC:11443 STX8 syntaxin 8 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 CARB Syntaxins 818 1999-04-15 2015-08-26 9482 ENSG00000170310 OTTHUMG00000177844 uc002glx.4 AF115323 NM_004853 CCDS32565 Q9UNK0 "9852078|10198254" MGI:1890156 RGD:61917 604203 HGNC:11443 "ENST00000306357.9|NM_004853.3" +HGNC:49855 STX8P1 syntaxin 8 pseudogene 1 pseudogene pseudogene Approved 12p13.1 12p13.1 2014-03-18 2014-03-18 100423046 ENSG00000270296 OTTHUMG00000184726 NG_021191 PGOHUM00000239354 HGNC:49855 +HGNC:11428 STX10 syntaxin 10 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "hsyn10|SYN10" Syntaxins 818 1998-11-30 2020-04-01 8677 ENSG00000104915 OTTHUMG00000180759 uc002mwo.5 AF035531 NM_003765 "CCDS62571|CCDS62569|CCDS62570|CCDS32922" O60499 9446797 603765 HGNC:11428 "ENST00000587230.6|NM_003765.3" +HGNC:11429 STX11 syntaxin 11 protein-coding gene gene with protein product Approved 6q24.2 06q24.2 Syntaxins 818 1998-11-30 2021-05-26 8676 ENSG00000135604 OTTHUMG00000015739 uc003qks.5 AF044309 NM_003764 CCDS5205 O75558 9553086 MGI:1921982 RGD:1304744 "STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)|http://structure.bmc.lu.se/idbase/STX11base/|LRG_113|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_113.xml" 605014 119892 HGNC:11429 "ENST00000367568.5|NM_003764.4" HGNC:11429 +HGNC:11430 STX12 syntaxin 12 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "STX13|STX14" Syntaxins 818 1998-11-30 2020-11-17 23673 ENSG00000117758 OTTHUMG00000003730 uc001bou.4 BC046999 NM_177424 CCDS310 Q86Y82 9507000 MGI:1931027 RGD:620977 606892 HGNC:11430 "ENST00000373943.9|NM_177424.3" +HGNC:11431 STX16 syntaxin 16 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "hsyn16|SYN16|SYN-16" Syntaxins 818 1998-11-30 2021-12-05 8675 ENSG00000124222 OTTHUMG00000033084 uc002xzi.4 AF038897 NM_001001433 "CCDS46620|CCDS46619|CCDS13469|CCDS13468|CCDS56199" O14662 "9464276|9587053|15800843" MGI:1923396 RGD:1309423 603666 167897 HGNC:11431 "ENST00000371141.8|NM_001001433.3" HGNC:11431 +HGNC:41993 STX16-NPEPL1 STX16-NPEPL1 readthrough (NMD candidate) other readthrough Approved 20q13.32 20q13.32 2011-05-31 2013-05-09 2014-11-19 100534593 ENSG00000254995 OTTHUMG00000167390 uc061yan.1 NR_037945.1 HGNC:41993 +HGNC:11432 STX17 syntaxin 17 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 FLJ20651 Syntaxins 818 1998-12-03 2021-09-08 55014 ENSG00000136874 OTTHUMG00000020359 uc004bal.5 AL834371 NM_017919 CCDS6745 P56962 "9852078|15956034" MGI:1914977 RGD:708499 604204 HGNC:11432 "ENST00000259400.11|NM_017919.3" +HGNC:51174 STX17-DT STX17 divergent transcript non-coding RNA RNA, long non-coding Approved 9q31.1 09q31.1 STX17-AS1 STX17 antisense RNA 1 Divergent transcripts 1990 2014-07-31 2021-03-17 2021-03-17 2021-03-17 441461 ENSG00000255145 OTTHUMG00000166238 BC030123 NR_038853 STX17-AS1 HGNC:51174 +HGNC:15942 STX18 syntaxin 18 protein-coding gene gene with protein product Approved 4p16.3-p16.2 04p16.3-p16.2 Ufe1 Syntaxins 818 2001-07-18 2018-02-13 53407 ENSG00000168818 OTTHUMG00000090331 uc003gic.4 AB028741 NM_001346281 CCDS3377 Q9P2W9 10788491 MGI:1918366 RGD:1310058 606046 HGNC:15942 "ENST00000306200.7|NM_016930.4" +HGNC:48877 STX18-AS1 STX18 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 4p16.2 04p16.2 LOC100507266 Antisense RNAs 1987 2013-06-15 2013-06-21 100507266 ENSG00000247708 OTTHUMG00000159923 NR_037888 23708191 STX18-AS1 HGNC:48877 +HGNC:41415 STX18-IT1 STX18 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 4p16.3 04p16.3 STX18 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 104472519 ENSG00000248221 OTTHUMG00000159966 uc062uwo.1 NR_126434 STX18-IT1 HGNC:41415 +HGNC:43995 STX18P1 syntaxin 18 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 2012-05-25 2012-05-25 100418889 NG_026236 PGOHUM00000237342 HGNC:43995 +HGNC:19300 STX19 syntaxin 19 protein-coding gene gene with protein product Approved 3q11.2 03q11.2 MGC21382 Syntaxins 818 2005-12-30 2016-10-05 415117 ENSG00000178750 OTTHUMG00000159013 uc003drh.2 AF461456 NM_001001850 CCDS33793 Q8N4C7 20545907 MGI:1915409 RGD:1597703 HGNC:19300 "ENST00000315099.3|NM_001001850.3" +HGNC:11444 STXBP1 syntaxin binding protein 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "hUNC18|MUNC18-1|UNC18|rbSec1|nSec1" syntaxin-binding protein 1 1996-12-27 2021-05-26 6812 ENSG00000136854 OTTHUMG00000020713 uc004brl.3 AF004563 NM_003165 "CCDS6874|CCDS35146" P61764 9545644 MGI:107363 RGD:3785 602926 166683 HGNC:11444 "ENST00000373299.5|NM_001032221.6" HGNC:11444 +HGNC:11445 STXBP2 syntaxin binding protein 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "UNC18B|Hunc18b|Unc18-2|MUNC18-2" 1996-12-27 2021-05-26 6813 ENSG00000076944 OTTHUMG00000182396 uc002mha.6 U63533 NM_006949 "CCDS12181|CCDS45948|CCDS62522" Q15833 8921365 MGI:107370 RGD:619967 LRG_165|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_165.xml 601717 227102 HGNC:11445 "ENST00000221283.10|NM_006949.4" HGNC:11445 +HGNC:11446 STXBP3 syntaxin binding protein 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 UNC-18C 1996-12-27 2014-11-19 6814 ENSG00000116266 OTTHUMG00000011122 uc001dvy.4 D63506 NM_007269 CCDS790 O00186 10194441 MGI:107362 RGD:619968 608339 HGNC:11446 "ENST00000370008.4|NM_007269.4" +HGNC:19694 STXBP4 syntaxin binding protein 4 protein-coding gene gene with protein product Approved 17q22 17q22 "Synip|MGC50337" PDZ domain containing 1220 2004-01-15 2014-11-19 252983 ENSG00000166263 OTTHUMG00000074043 uc002iuf.2 BC041485 NM_178509 CCDS11584 Q6ZWJ1 12855681 MGI:1342296 RGD:1307903 610415 HGNC:19694 "ENST00000376352.6|NM_178509.6" +HGNC:19665 STXBP5 syntaxin binding protein 5 protein-coding gene gene with protein product Approved 6q24.3 06q24.3 "tomosyn|LLGL3|tomosyn-1" WD repeat domain containing 362 2002-11-12 2016-01-19 2021-03-31 134957 ENSG00000164506 OTTHUMG00000015766 uc010khz.3 AK055484 NM_001127715 "CCDS5211|CCDS47499" Q5T5C0 "9620695|14767561" MGI:1926058 RGD:708517 604586 HGNC:19665 "ENST00000321680.11|NM_001127715.4" +HGNC:44183 STXBP5-AS1 STXBP5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q24.3 06q24.3 STXBP5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2019-06-19 729178 ENSG00000233452 OTTHUMG00000015762 uc063scl.1 BC044307 NR_034115 31212131 STXBP5-AS1 HGNC:44183 +HGNC:30757 STXBP5L syntaxin binding protein 5L protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "KIAA1006|LLGL4|tomosyn-2" "syntaxin binding protein 5-like|syntaxin binding protein 5 like" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2004-03-05 2021-04-08 2021-05-26 9515 ENSG00000145087 OTTHUMG00000159426 uc003eec.5 AB023223 NM_001308330 "CCDS43137|CCDS77799" Q9Y2K9 "10231032|14767561" MGI:2443815 RGD:1311561 609381 471168 HGNC:30757 "ENST00000471454.6|NM_001308330.2" +HGNC:19666 STXBP6 syntaxin binding protein 6 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "amisyn|HSPC156" 2002-11-12 2016-01-19 2016-01-19 29091 ENSG00000168952 OTTHUMG00000140186 uc001wpw.5 AF161505 NM_001304476 CCDS9634 Q8NFX7 12145319 MGI:2384963 RGD:1306117 607958 HGNC:19666 "ENST00000323944.10|NM_001394410.1" +HGNC:18889 STYK1 serine/threonine/tyrosine kinase 1 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "SuRTK106|DKFZp761P1010|NOK" Receptor tyrosine kinases 321 2005-01-21 2016-07-08 55359 ENSG00000060140 OTTHUMG00000168408 uc001qys.2 AF251059 NM_018423 CCDS8629 Q6J9G0 12841579 MGI:2141396 RGD:1564211 611433 objectId:2229 2.7.10.2 HGNC:18889 "ENST00000075503.8|NM_018423.3" +HGNC:11447 STYX serine/threonine/tyrosine interacting protein protein-coding gene gene with protein product Approved 14q22.1 14q22.1 serine/threonine/tyrosine-interacting protein Atypical dual specificity phosphatases 896 1998-08-05 2001-11-29 2015-09-08 6815 ENSG00000198252 OTTHUMG00000140306 uc001xaa.4 NM_145251 CCDS9711 Q8WUJ0 7592916 MGI:1891150 RGD:1594806 615814 HGNC:11447 "ENST00000354586.5|NM_145251.4" +HGNC:18165 STYXL1 serine/threonine/tyrosine interacting like 1 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 MK-STYX DUSP24 dual specificity phosphatase 24 (putative) MAP kinase phosphatases 895 2005-01-20 2005-09-22 2016-07-27 2016-07-27 51657 ENSG00000127952 OTTHUMG00000130459 uc003uel.4 AF069762 NM_016086 "CCDS83193|CCDS5580" Q9Y6J8 9757831 MGI:1923821 RGD:1305845 616695 471170 HGNC:18165 "ENST00000359697.8|NM_001317785.2" +HGNC:25034 STYXL2 serine/threonine/tyrosine interacting like 2 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 DUSP27 "dual specificity phosphatase 27 (putative)|dual specificity phosphatase 27, atypical" 2005-07-29 2020-06-01 2020-06-01 2020-06-04 92235 ENSG00000198842 OTTHUMG00000034434 uc057nat.1 AF119045 NM_001080426 CCDS30932 Q5VZP5 26302245 MGI:2685055 RGD:1560598 HGNC:25034 "ENST00000361200.7|NM_001080426.3" +HGNC:19985 SUB1 SUB1 regulator of transcription protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "PC4|p15|p14" positive cofactor 4 "SUB1 homolog (S. cerevisiae)|SUB1 homolog, transcriptional regulator" 2005-08-19 2019-05-10 2019-05-10 10923 ENSG00000113387 OTTHUMG00000131071 uc063ctm.1 X79805 NM_006713 CCDS3897 P53999 "8062392|8062391|28369605" MGI:104811 RGD:621582 600503 HGNC:19985 "ENST00000265073.9|NM_006713.4" +HGNC:32300 SUB1P1 SUB1 pseudogene 1 pseudogene pseudogene Approved 8p23.1 08p23.1 "SUB1 homolog (S. cerevisiae) pseudogene 1|SUB1 pseudogene 1|SUB1 homolog, transcriptional regulator pseudogene 1" 2005-10-04 2019-05-10 2019-05-10 728938 ENSG00000227203 OTTHUMG00000165367 NG_007169 PGOHUM00000249564 HGNC:32300 +HGNC:43992 SUB1P2 SUB1 pseudogene 2 pseudogene pseudogene Approved 14q24.3 14q24.3 "SUB1 homolog (S. cerevisiae) pseudogene 2|SUB1 pseudogene 2|SUB1 homolog, transcriptional regulator pseudogene 2" 2012-05-25 2019-05-10 2019-05-10 100287680 ENSG00000258737 OTTHUMG00000171209 NG_022860 PGOHUM00000248229 HGNC:43992 +HGNC:43993 SUB1P3 SUB1 pseudogene 3 pseudogene pseudogene Approved 16p13.3 16p13.3 "SUB1 homolog (S. cerevisiae) pseudogene 3|SUB1 pseudogene 3|SUB1 homolog, transcriptional regulator pseudogene 3" 2012-05-25 2019-05-10 2019-05-10 106480442 ENSG00000261612 OTTHUMG00000176542 NG_043392 PGOHUM00000248708 HGNC:43993 +HGNC:43994 SUB1P4 SUB1 pseudogene 4 pseudogene pseudogene Approved 16p12.2 16p12.2 "SUB1 homolog (S. cerevisiae) pseudogene 4|SUB1 pseudogene 4|SUB1 homolog, transcriptional regulator pseudogene 4" 2012-05-25 2019-05-10 2019-05-10 100288661 ENSG00000260247 OTTHUMG00000177019 NG_027752 PGOHUM00000249022 HGNC:43994 +HGNC:11448 SUCLA2 succinate-CoA ligase ADP-forming subunit beta protein-coding gene gene with protein product Approved 13q14.2 13q14.2 succinate--CoA ligase (ADP-forming) LINC00444 "succinate-CoA ligase, ADP-forming, beta subunit|long intergenic non-protein coding RNA 444" 1998-11-11 2019-11-26 2021-05-26 8803 ENSG00000136143 OTTHUMG00000016889 uc001vbs.4 AF058953 NM_003850 CCDS9406 Q9P2R7 9765291 MGI:1306775 RGD:1309397 603921 119894 6.2.1.5 HGNC:11448 "ENST00000646932.1|NM_003850.3" HGNC:11448 +HGNC:39965 SUCLA2-AS1 SUCLA2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.2 13q14.2 SUCLA2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-18 2012-08-15 2014-11-19 101929410 ENSG00000227848 OTTHUMG00000016887 uc058wxx.1 SUCLA2-AS1 HGNC:39965 +HGNC:21632 SUCLA2P1 SUCLA2 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 Em:AB014080.4 SUCLA2P "succinate-CoA ligase beta subunit pseudogene 1|succinate-CoA ligase ADP-forming beta subunit pseudogene 1" 2004-01-12 2010-04-16 2019-11-26 2019-11-26 646520 ENSG00000224936 OTTHUMG00000031145 NG_022351 PGOHUM00000243575 HGNC:21632 +HGNC:38102 SUCLA2P2 SUCLA2 pseudogene 2 pseudogene pseudogene Approved 2p12 02p12 succinate-CoA ligase ADP-forming beta subunit pseudogene 2 2010-04-19 2019-11-26 2019-11-26 100129863 ENSG00000233107 OTTHUMG00000152944 NG_021507 PGOHUM00000264484 HGNC:38102 +HGNC:38103 SUCLA2P3 SUCLA2 pseudogene 3 pseudogene pseudogene Approved 2p23 02p23 succinate-CoA ligase ADP-forming beta subunit pseudogene 3 2010-04-19 2019-11-26 2019-11-26 100421648 ENSG00000229593 OTTHUMG00000151987 NG_021497 PGOHUM00000239992 HGNC:38103 +HGNC:11449 SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "succinate-CoA ligase, GDP-forming, alpha subunit|succinate-CoA ligase, alpha subunit" 1998-11-11 2019-11-26 2021-05-26 8802 ENSG00000163541 OTTHUMG00000130023 uc002son.4 Z68204 NM_003849 CCDS1967 P53597 9128182 MGI:1927234 RGD:619821 611224 158461 6.2.1.4 HGNC:11449 "ENST00000393868.7|NM_003849.4" HGNC:11449 +HGNC:11450 SUCLG2 succinate-CoA ligase GDP-forming subunit beta protein-coding gene gene with protein product Approved 3p14.1 03p14.1 1998-11-11 2019-11-26 2019-11-26 8801 ENSG00000172340 OTTHUMG00000158740 uc003dna.5 AF058954 NM_003848 "CCDS54605|CCDS43104" Q96I99 9765291 MGI:1306824 RGD:1305008 603922 471172 6.2.1.4 HGNC:11450 "ENST00000307227.10|NM_003848.4" +HGNC:49643 SUCLG2-DT SUCLG2 divergent transcript non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 SUCLG2-AS1 SUCLG2 antisense RNA 1 (head to head) Divergent transcripts 1990 2014-01-28 2021-06-24 2021-06-24 2021-06-24 101927111 ENSG00000241316 OTTHUMG00000158739 NR_109992 SUCLG2-AS1 HGNC:49643 +HGNC:43996 SUCLG2P1 SUCLG2 pseudogene 1 pseudogene pseudogene Approved 3q23 03q23 succinate-CoA ligase GDP-forming beta subunit pseudogene 1 2012-05-25 2019-11-26 2019-11-26 100421671 NG_025634 PGOHUM00000237799 HGNC:43996 +HGNC:43997 SUCLG2P2 SUCLG2 pseudogene 2 pseudogene pseudogene Approved 12q22 12q22 succinate-CoA ligase GDP-forming beta subunit pseudogene 2 2012-05-25 2019-11-26 2019-11-26 283398 ENSG00000236349 OTTHUMG00000170229 NG_017133 PGOHUM00000239896 HGNC:43997 +HGNC:43998 SUCLG2P3 SUCLG2 pseudogene 3 pseudogene pseudogene Approved 11q22.3 11q22.3 succinate-CoA ligase GDP-forming beta subunit pseudogene 3 2012-05-25 2019-11-26 2019-11-26 100421712 NG_024413 PGOHUM00000242466 HGNC:43998 +HGNC:43999 SUCLG2P4 SUCLG2 pseudogene 4 pseudogene pseudogene Approved 5p13.3 05p13.3 succinate-CoA ligase GDP-forming beta subunit pseudogene 4 2012-05-25 2019-11-26 2019-11-26 100130528 ENSG00000249226 OTTHUMG00000160376 NG_017131 PGOHUM00000235537 HGNC:43999 +HGNC:4542 SUCNR1 succinate receptor 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 GPR91 G protein-coupled receptor 91 Succinate receptor 936 2000-07-31 2004-07-09 2004-07-08 2014-11-19 56670 ENSG00000198829 OTTHUMG00000159880 uc003ezf.3 AF348078 NM_033050 CCDS3162 Q9BXA5 "11273702|15141213|17192395" MGI:1934135 RGD:1303193 606381 objectId:166 HGNC:4542 "ENST00000362032.6|NM_033050.6" +HGNC:1240 SUCO SUN domain containing ossification factor protein-coding gene gene with protein product Approved 1q24.3 01q24.3 "CH1|SLP1|OPT" "SUN-like protein 1|osteopotentia" C1orf9 chromosome 1 open reading frame 9 1999-09-29 2012-07-10 2012-07-10 2020-09-17 51430 ENSG00000094975 OTTHUMG00000034839 uc001giq.6 AF097535 NM_016227 "CCDS72984|CCDS65726|CCDS1303|CCDS65727" Q9UBS9 "10673381|20440000" MGI:2138346 RGD:735185 619434 HGNC:1240 "ENST00000263688.4|NM_014283.5" HGNC:1240 +HGNC:29545 SUDS3 SDS3 homolog, SIN3A corepressor complex component protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "SDS3|FLJ00052|SAP45" sin3A-associated protein, 45kDa "suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)|suppressor of defective silencing 3 homolog (S. cerevisiae)" SIN3 histone deacetylase complex subunits 1306 2006-01-27 2015-09-24 2015-09-24 64426 ENSG00000111707 OTTHUMG00000168884 uc001twz.4 AK023801 NM_022491 CCDS44993 Q9H7L9 11909966 MGI:1919204 RGD:1305986 608250 HGNC:29545 "ENST00000543473.2|NM_022491.3" +HGNC:44000 SUDS3P1 SDS3 homolog, SIN3A corepressor complex component pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 "suppressor of defective silencing 3 homolog (S. cerevisiae) pseudogene 1|SUDS3 pseudogene 1" 2012-05-25 2015-09-24 2015-09-24 285647 ENSG00000249129 OTTHUMG00000163458 NG_005309 PGOHUM00000235854 HGNC:44000 +HGNC:16466 SUFU SUFU negative regulator of hedgehog signaling protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "SUFUH|SUFUXL|PRO1280" suppressor of fused homolog (Drosophila) 2001-08-28 2016-01-15 2021-05-26 51684 ENSG00000107882 OTTHUMG00000018966 uc001kvy.3 AF175770 NM_016169 "CCDS7537|CCDS53571" Q9UMX1 15367681 MGI:1345643 RGD:1559462 LRG_521|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_521.xml SUFU 607035 119896 HGNC:16466 "ENST00000369902.8|NM_016169.4" HGNC:16466 +HGNC:16001 SUGCT succinyl-CoA:glutarate-CoA transferase protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "FLJ11808|ORF19|DERP13" "Russel-Silver syndrome candidate|dermal papilla derived protein 13|succinate-hydroxymethylglutarate CoA-transferase" C7orf10 chromosome 7 open reading frame 10 2002-02-13 2013-12-12 2014-04-29 2021-05-26 79783 ENSG00000175600 OTTHUMG00000155094 AK021870 NM_024728 "CCDS55105|CCDS55106|CCDS55104" Q9HAC7 "11829489|23893049" MGI:1923221 RGD:1308114 609187 169960 2.8.3.13 HGNC:16001 "ENST00000335693.9|NM_001193313.2" HGNC:16001 +HGNC:40745 SUGCT-AS1 SUGCT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 Antisense RNAs 1987 2020-03-27 2020-03-27 101928716 ENSG00000203446 OTTHUMG00000155092 XR_242166 +HGNC:18643 SUGP1 SURP and G-patch domain containing 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "F23858|DKFZp434E2216|RBP" SF4 splicing factor 4 "G-patch domain containing|Spliceosomal A complex" "579|1504" 2003-04-11 2010-08-10 2015-11-13 2019-04-16 57794 ENSG00000105705 OTTHUMG00000182223 uc002nmh.4 AF521128 NM_021164 CCDS12399 Q8IWZ8 12594045 MGI:1917866 RGD:1310496 607992 HGNC:18643 "ENST00000247001.10|NM_172231.4" +HGNC:18641 SUGP2 SURP and G-patch domain containing 2 protein-coding gene gene with protein product Approved 19p13 19p13 KIAA0365 SFRS14 splicing factor, arginine/serine-rich 14 G-patch domain containing 579 2003-04-09 2010-08-10 2015-11-13 2015-11-13 10147 ENSG00000064607 OTTHUMG00000182997 uc002nkx.3 AB002363 NM_001017392 "CCDS12392|CCDS82322" Q8IX01 12594045 MGI:2678085 RGD:1306042 607993 HGNC:18641 "ENST00000452918.7|NM_001017392.5" +HGNC:16987 SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone protein-coding gene gene with protein product Approved 13q14.3 13q14.3 SGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 2002-11-13 2015-09-24 2015-09-24 10910 ENSG00000165416 OTTHUMG00000016977 uc001vhb.3 AF068289 NM_001130912 "CCDS45050|CCDS9436" Q9Y2Z0 "10445024|20404110" MGI:1915205 RGD:1307550 604098 HGNC:16987 "ENST00000310528.9|NM_006704.5" +HGNC:54809 SUGT1-DT SUGT1 divergent transcript non-coding RNA RNA, long non-coding Approved 13q14.3 13q14.3 Divergent transcripts 1990 2020-01-17 2020-07-16 116435302 ENSG00000273723 NR_170300 32079618 +HGNC:19384 SUGT1P1 SUGT1 pseudogene 1 pseudogene pseudogene Approved 9p13.3 09p13.3 "bA255A11.1|SGT1P|MGC15151" SUGT1P "suppressor of G2 allele of SKP1 pseudogene (S. cerevisiae)|suppressor of G2 allele of SKP1 pseudogene 1 (S. cerevisiae)|suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 1|SUGT1 pseudogene 1|SGT1 homolog, MIS12 kinetochore complex assembly cochaperone pseudogene 1" 2002-11-13 2010-01-12 2018-03-28 2020-04-20 441394 ENSG00000226823 OTTHUMG00000019782 AL139008 NR_003667 HGNC:19384 +HGNC:31377 SUGT1P2 SUGT1 pseudogene 2 pseudogene pseudogene Approved 3p22.3 03p22.3 "suppressor of G2 allele of SKP1 pseudogene 2 (S. cerevisiae)|suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 2|SUGT1 pseudogene 2|SGT1 homolog, MIS12 kinetochore complex assembly cochaperone pseudogene 2" 2006-03-22 2018-03-28 2018-03-28 728706 ENSG00000213842 OTTHUMG00000155904 AC138972 NG_006446 PGOHUM00000299391 HGNC:31377 +HGNC:20513 SUGT1P3 SUGT1 pseudogene 3 pseudogene pseudogene Approved 13q14.11 13q14.11 SUGT1L1 "SGT1, suppressor of G2 allele of SKP1 like 1 (S. cerevisiae)|suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 3|SUGT1 pseudogene 3|SGT1 homolog, MIS12 kinetochore complex assembly cochaperone pseudogene 3" 2003-02-19 2010-10-27 2018-03-28 2020-04-20 283507 ENSG00000239827 OTTHUMG00000016780 NR_003365 PGOHUM00000291935 HGNC:20513 +HGNC:53832 SUGT1P4 SUGT1 pseudogene 4 pseudogene pseudogene Approved 9q22.33 09q22.33 2018-03-28 2018-03-29 112272564 ENSG00000254483 OTTHUMG00000020323 NG_056703 PGOHUM00000304413 HGNC:53832 +HGNC:53834 SUGT1P4-STRA6LP SUGT1P4-STRA6LP readthrough other readthrough Approved 9q22.33 09q22.33 2018-03-29 2018-03-29 100499484 ENSG00000254876 OTTHUMG00000166998 NR_036526 HGNC:53834 +HGNC:53835 SUGT1P4-STRA6LP-CCDC180 SUGT1P4-STRA6LP-CCDC180 readthrough other readthrough Approved 9q22.33 09q22.33 2018-03-29 2020-08-17 57653 ENSG00000255036 NR_036527 HGNC:53835 +HGNC:20391 SULF1 sulfatase 1 protein-coding gene gene with protein product Approved 8q13.2-q13.3 08q13.2-q13.3 "KIAA1077|SULF-1|hSulf-1" Extracellular sulfatase Sulf-1 Sulfatases 410 2004-01-26 2018-02-13 23213 ENSG00000137573 OTTHUMG00000164466 uc003xyd.3 AB029000 NM_015170 CCDS6204 Q8IWU6 12368295 MGI:2138563 RGD:708554 610012 HGNC:20391 "ENST00000402687.9|NM_001128205.2" +HGNC:20392 SULF2 sulfatase 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "KIAA1247|HSULF-2|SULF-2" Sulfatases 410 2004-01-26 2016-04-25 55959 ENSG00000196562 OTTHUMG00000032675 uc002xto.4 AY101176 NM_018837 "CCDS13409|CCDS13408" Q8IWU5 12368295 MGI:1919293 RGD:1305078 610013 HGNC:20392 "ENST00000688720.1|NM_001387048.1" +HGNC:11453 SULT1A1 sulfotransferase family 1A member 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 P-PST "STP|STP1" sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 Sulfotransferases, cytosolic 762 1993-08-23 2015-11-06 2016-10-05 6817 ENSG00000196502 OTTHUMG00000131765 uc002dqp.4 U52852 NM_001055 CCDS32420 P50225 "8288252|8912648" MGI:102896 RGD:3767 171150 2.8.2.1 HGNC:11453 "ENST00000314752.12|NM_001055.4" +HGNC:11454 SULT1A2 sulfotransferase family 1A member 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 HAST4 STP2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 Sulfotransferases, cytosolic 762 1995-08-22 2015-11-06 2016-10-05 6799 ENSG00000197165 OTTHUMG00000048082 uc002dqh.3 U34804 NM_001054 "CCDS10636|CCDS86513" P50226 "8661000|8912648" MGI:102896 601292 2.8.2.1 HGNC:11454 "ENST00000335715.9|NM_001054.4" +HGNC:11455 SULT1A3 sulfotransferase family 1A member 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 TL-PST STM sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 Sulfotransferases, cytosolic 762 1994-05-18 2015-11-06 2015-11-06 6818 ENSG00000261052 OTTHUMG00000048083 uc002dxk.4 U20499 NM_003166 CCDS10674 P0DMM9 "8117269|7829089" MGI:102896 600641 2.8.2.1 HGNC:11455 "ENST00000338971.10|NM_177552.4" +HGNC:30004 SULT1A4 sulfotransferase family 1A member 4 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4 Sulfotransferases, cytosolic 762 2005-05-05 2015-11-06 2015-11-06 445329 ENSG00000213648 OTTHUMG00000170468 uc002dtb.4 L34160 NM_001017389 CCDS32427 P0DMN0 "15358107|15752422" MGI:102896 615819 2.8.2.1 HGNC:30004 "ENST00000360423.12|NM_001017390.3" +HGNC:17845 SULT1B1 sulfotransferase family 1B member 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 ST1B2 sulfotransferase family, cytosolic, 1B, member 1 Sulfotransferases, cytosolic 762 2002-01-10 2015-11-06 2021-05-26 27284 ENSG00000173597 OTTHUMG00000129407 uc003hen.4 D89479 NM_014465 CCDS3530 O43704 "11688987|9443824" MGI:2136282 RGD:708534 608436 2.8.2.1 HGNC:17845 "ENST00000310613.8|NM_014465.4" HGNC:17845 +HGNC:11456 SULT1C2 sulfotransferase family 1C member 2 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 ST1C1 SULT1C1 "sulfotransferase family, cytosolic, 1C, member 1|sulfotransferase family, cytosolic, 1C, member 2" Sulfotransferases, cytosolic 762 1997-01-10 2007-03-16 2015-11-06 2019-08-09 6819 ENSG00000198203 OTTHUMG00000153215 uc002tdy.3 "U66036|AF186255" NM_176825 "CCDS2076|CCDS2075" O00338 "9169148|10783263" MGI:1916333 RGD:1305885 602385 2.8.2.1 HGNC:11456 "ENST00000251481.11|NM_001056.4" +HGNC:33545 SULT1C2P1 sulfotransferase family 1C member 2 pseudogene 1 pseudogene pseudogene Approved 2q12.3 02q12.3 SULT1C1P sulfotransferase family, cytosolic, 1C, member 2 pseudogene 1 2010-09-30 2015-11-06 2015-11-06 151234 ENSG00000237223 OTTHUMG00000153216 AK056906 NR_037191 14676822 PGOHUM00000240839 HGNC:33545 +HGNC:51595 SULT1C2P2 sulfotransferase family, cytosolic, 1C, member 2 pseudogene 2 pseudogene pseudogene Approved 2q12.3 02q12.3 2015-03-12 2020-04-06 106480333 ENSG00000261209 OTTHUMG00000176329 NG_045175 PGOHUM00000298615 HGNC:51595 +HGNC:33543 SULT1C3 sulfotransferase family 1C member 3 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 sulfotransferase family, cytosolic, 1C, member 3 Sulfotransferases, cytosolic 762 2007-07-26 2015-11-06 2019-08-09 442038 ENSG00000196228 OTTHUMG00000153227 uc010ywo.2 BC146362 NM_001008743 CCDS33267 Q6IMI6 "14676822|17425406" MGI:102928 RGD:3768 617151 2.8.2.1 HGNC:33543 "ENST00000681802.2|NM_001320878.2" +HGNC:11457 SULT1C4 sulfotransferase family 1C member 4 protein-coding gene gene with protein product Approved 2q12.3 02q12.3 SULT1C SULT1C2 "sulfotransferase family, cytosolic, 1C, member 2|sulfotransferase family, cytosolic, 1C, member 4" Sulfotransferases, cytosolic 762 2000-01-21 2007-03-16 2015-11-06 2019-08-09 27233 ENSG00000198075 OTTHUMG00000130958 uc002tea.2 AF055584 NM_006588 "CCDS82492|CCDS2077" O75897 "10783263|9852044" MGI:102928 RGD:6499500 608357 2.8.2.1 HGNC:11457 "ENST00000272452.7|NM_006588.4" +HGNC:30659 SULT1D1P sulfotransferase family 1D member 1, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 SULT1D1 "tyrosine-ester sulfotransferase|amine N-sulfotransferase" sulfotransferase family, cytosolic, 1D, member 1, pseudogene Sulfotransferases, cytosolic 762 2007-03-12 2015-11-06 2020-08-14 133150 ENSG00000236959 OTTHUMG00000154682 BK001433 NG_002642 "11688987|14676822" MGI:1926341 HGNC:30659 +HGNC:11377 SULT1E1 sulfotransferase family 1E member 1 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 EST STE "sulfotransferase, estrogen-preferring|sulfotransferase family 1E, estrogen-preferring, member 1" Sulfotransferases, cytosolic 762 1994-05-18 2004-02-04 2015-11-06 2016-10-05 6783 ENSG00000109193 OTTHUMG00000129403 uc003heo.3 BC027956 NM_005420 CCDS3531 P49888 7961757 MGI:98431 RGD:3776 600043 2.8.2.4 HGNC:11377 "ENST00000226444.4|NM_005420.3" +HGNC:11458 SULT2A1 sulfotransferase family 2A member 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 DHEA-ST STD sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 Sulfotransferases, cytosolic 762 1994-03-03 2015-11-06 2016-10-05 6822 ENSG00000105398 OTTHUMG00000162469 uc002phr.2 X70222 NM_003167 CCDS12707 Q06520 "1588921|7736787" "MGI:98430|MGI:107550|MGI:3645873|MGI:3645854|MGI:3648378|MGI:3648915|MGI:3645246|MGI:1924221" RGD:621337 125263 2.8.2.2 HGNC:11458 "ENST00000222002.4|NM_003167.4" +HGNC:11459 SULT2B1 sulfotransferase family 2B member 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 HSST2 sulfotransferase family, cytosolic, 2B, member 1 Sulfotransferases, cytosolic 762 1998-08-18 2015-11-06 2021-05-26 6820 ENSG00000088002 OTTHUMG00000183314 uc002pjl.4 U92314 NM_004605 "CCDS12723|CCDS12724" O00204 9799594 MGI:1926342 RGD:1308882 604125 2.8.2.2 HGNC:11459 "ENST00000201586.7|NM_177973.2" HGNC:11459 +HGNC:14903 SULT4A1 sulfotransferase family 4A member 1 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "SULTX3|hBR-STL-1" sulfotransferase family 4A, member 1 Sulfotransferases, cytosolic 762 2001-03-14 2015-11-06 2019-08-09 25830 ENSG00000130540 OTTHUMG00000141314 uc003bee.2 AF188698 NM_014351 CCDS14051 Q9BR01 10698717 MGI:1888971 RGD:69292 608359 2.8.2.1 HGNC:14903 "ENST00000330884.9|NM_014351.4" +HGNC:33433 SULT6B1 sulfotransferase family 6B member 1 protein-coding gene gene with protein product Approved 2p22.2 02p22.2 sulfotransferase family, cytosolic, 6B, member 1 Sulfotransferases, cytosolic 762 2007-07-26 2015-11-06 2019-08-09 391365 ENSG00000138068 OTTHUMG00000152160 uc002rpu.4 "AY289770|AY289774" NM_001032377 CCDS33182 Q6IMI4 14676822 MGI:1920921 RGD:1598187 617152 2.8.2.2 HGNC:33433 "ENST00000535679.6|NM_001367551.1" +HGNC:53737 SULT6B2P sulfotransferase family 6B member 2, pseudogene pseudogene pseudogene Approved 12p12.1 12p12.1 2017-10-18 2017-10-18 107984497 ENSG00000283582 OTTHUMG00000191806 XR_001749042 MGI:2685612 HGNC:53737 +HGNC:20376 SUMF1 sulfatase modifying factor 1 protein-coding gene gene with protein product Approved 3p26.1 03p26.1 "FGE|UNQ3037" 2004-04-30 2021-05-26 285362 ENSG00000144455 OTTHUMG00000090269 uc003bpz.3 BC017005 NM_182760 "CCDS54549|CCDS2564|CCDS54548" Q8NBK3 "12757705|12757706" MGI:1889844 RGD:1309939 607939 119899 HGNC:20376 "ENST00000272902.10|NM_182760.4" HGNC:20376 +HGNC:20415 SUMF2 sulfatase modifying factor 2 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 DKFZp566I1024 2004-04-30 2016-10-05 25870 ENSG00000129103 OTTHUMG00000129373 uc011kcw.3 AK075477 NM_015411 CCDS55111 Q8NBJ7 12757706 MGI:1915152 RGD:1563253 607940 HGNC:20415 "ENST00000434526.8|NM_015411.4" +HGNC:12502 SUMO1 small ubiquitin like modifier 1 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "PIC1|GMP1|SMT3C|SUMO-1|SMT3H3|OFC10" UBL1 "ubiquitin-like 1 (sentrin)|SMT3 suppressor of mif two 3 homolog 1 (yeast)|SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)" 1996-06-04 2004-05-19 2019-02-18 2021-05-26 7341 ENSG00000116030 OTTHUMG00000132839 uc002uyz.2 U38784 NM_003352 "CCDS2352|CCDS46493" P63165 "8812453|8906799" MGI:1197010 RGD:1306919 601912 138689 HGNC:12502 "ENST00000392246.7|NM_003352.8" HGNC:12502 +HGNC:33148 SUMO1P1 SUMO1 pseudogene 1 pseudogene pseudogene Approved 20q13.2 20q13.2 PIC1L "UBL2|UBL6" "ubiquitin-like 2|ubiquitin-like 6" 2006-10-16 2014-11-19 391257 ENSG00000241721 OTTHUMG00000032770 NR_002189 G2XKQ0 "12383504|9465300" PGOHUM00000247564 HGNC:33148 +HGNC:33149 SUMO1P2 SUMO1 pseudogene 2 pseudogene pseudogene Approved 1q24.2 01q24.2 2006-10-16 2014-11-19 474337 ENSG00000229612 OTTHUMG00000034587 NG_004725 "12383504|9465300" PGOHUM00000245077 HGNC:33149 +HGNC:33150 SUMO1P3 SUMO1 pseudogene 3 pseudogene pseudogene Approved 1q23.2 01q23.2 SUMO1 pseudogene 3 (functional) 2006-10-16 2016-01-29 2016-01-29 474338 ENSG00000235082 OTTHUMG00000033120 NR_002190 "12383504|9465300|23996296" HGNC:33150 +HGNC:33151 SUMO1P4 SUMO1 pseudogene 4 pseudogene pseudogene Approved 19q13.33 19q13.33 2006-10-16 2016-10-05 101290502 ENSG00000235555 OTTHUMG00000154914 NG_033172 "12383504|9465300" PGOHUM00000234734 HGNC:33151 +HGNC:33152 SUMO1P5 SUMO1 pseudogene 5 pseudogene pseudogene Approved 5q23.2 05q23.2 2007-12-20 2007-12-20 474341 NG_021192 "12383504|9465300" HGNC:33152 +HGNC:11125 SUMO2 small ubiquitin like modifier 2 protein-coding gene gene with protein product Approved 17q25 17q25 SMT3B SMT3H2 "SMT3 (suppressor of mif two 3, yeast) homolog 2|SMT3 suppressor of mif two 3 homolog 2 (yeast)|SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)" 1997-01-29 2004-05-19 2019-02-18 2019-02-18 6613 ENSG00000188612 OTTHUMG00000179481 uc002jne.4 NM_006937 "CCDS45774|CCDS45773" P61956 8630065 MGI:2158813 RGD:621761 603042 HGNC:11125 "ENST00000420826.7|NM_006937.4" +HGNC:13985 SUMO2P1 SUMO2 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "SMT3Bp|dJ271M21" "SMT3H2P|SUMO2P" "SMT3 (suppressor of mif two 3, yeast) homolog 2 pseudogene|SMT3 suppressor of mif two 3 homolog 2 (yeast) pseudogene|SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene|SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 1" 2003-05-22 2010-07-07 2013-06-05 2014-11-19 285829 ENSG00000235238 OTTHUMG00000031140 NG_002750 PGOHUM00000243124 HGNC:13985 +HGNC:39012 SUMO2P2 SUMO2 pseudogene 2 pseudogene pseudogene Approved 9p21.3 09p21.3 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 2 2010-09-21 2013-06-05 2014-11-19 100859924 ENSG00000227607 OTTHUMG00000019697 NG_031946 PGOHUM00000236414 HGNC:39012 +HGNC:39013 SUMO2P3 SUMO2 pseudogene 3 pseudogene pseudogene Approved 7p11.2 07p11.2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 3 2010-09-21 2013-06-05 2013-06-05 652489 ENSG00000224971 OTTHUMG00000156130 NG_005815 PGOHUM00000233241 HGNC:39013 +HGNC:39014 SUMO2P4 SUMO2 pseudogene 4 pseudogene pseudogene Approved 5q13.1 05q13.1 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 4 2010-09-21 2013-06-05 2014-11-19 100288757 ENSG00000249183 OTTHUMG00000162383 NG_028715 PGOHUM00000235249 HGNC:39014 +HGNC:39015 SUMO2P5 SUMO2 pseudogene 5 pseudogene pseudogene Approved 5q13.3 05q13.3 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 5 2010-09-21 2013-06-05 2014-11-19 100526738 ENSG00000251663 OTTHUMG00000162466 NG_027890 PGOHUM00000235655 HGNC:39015 +HGNC:39016 SUMO2P6 SUMO2 pseudogene 6 pseudogene pseudogene Approved 5q35.2 05q35.2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 6 2010-09-21 2013-06-05 2014-11-19 100127922 ENSG00000249031 OTTHUMG00000163126 NG_027875 PGOHUM00000235838 HGNC:39016 +HGNC:39017 SUMO2P7 SUMO2 pseudogene 7 pseudogene pseudogene Approved 17q21.33 17q21.33 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 7 2010-09-21 2013-06-05 2016-10-05 100131823 ENSG00000249838 OTTHUMG00000162059 NG_027891 PGOHUM00000237432 HGNC:39017 +HGNC:39018 SUMO2P8 SUMO2 pseudogene 8 pseudogene pseudogene Approved 6q21 06q21 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 8 2010-09-21 2013-06-05 2014-11-19 100506244 ENSG00000228976 OTTHUMG00000015326 NG_029319 PGOHUM00000243319 HGNC:39018 +HGNC:49348 SUMO2P10 SUMO2 pseudogene 10 pseudogene pseudogene Approved 3p22.3 03p22.3 2013-10-18 2013-10-18 2013-10-18 106481678 ENSG00000235424 OTTHUMG00000155777 NG_043021 PGOHUM00000263121 HGNC:49348 +HGNC:49349 SUMO2P11 SUMO2 pseudogene 11 pseudogene pseudogene Approved 4q21.1 04q21.1 2013-10-18 2013-10-18 100422250 NG_025228 PGOHUM00000245969 HGNC:49349 +HGNC:49350 SUMO2P12 SUMO2 pseudogene 12 pseudogene pseudogene Approved 6p24.1 06p24.1 2013-10-18 2013-10-18 106480262 ENSG00000218893 OTTHUMG00000014267 NG_043963 PGOHUM00000243488 HGNC:49350 +HGNC:49351 SUMO2P13 SUMO2 pseudogene 13 pseudogene pseudogene Approved 6p22.3 06p22.3 2013-10-18 2014-02-12 106480263 ENSG00000218359 OTTHUMG00000014310 NG_043969 PGOHUM00000243496 HGNC:49351 +HGNC:49352 SUMO2P14 SUMO2 pseudogene 14 pseudogene pseudogene Approved 7p15.3 07p15.3 2013-10-18 2013-10-18 106480264 ENSG00000271096 OTTHUMG00000184657 NG_045115 PGOHUM00000232619 HGNC:49352 +HGNC:49353 SUMO2P15 SUMO2 pseudogene 15 pseudogene pseudogene Approved 15q15.1 15q15.1 2013-10-18 2013-10-18 106480417 ENSG00000271236 OTTHUMG00000184878 NG_043176 PGOHUM00000247095 HGNC:49353 +HGNC:49354 SUMO2P16 SUMO2 pseudogene 16 pseudogene pseudogene Approved 8p12 08p12 2013-10-18 2013-10-18 106480679 ENSG00000253579 OTTHUMG00000163895 NG_008870 PGOHUM00000249287 HGNC:49354 +HGNC:49358 SUMO2P17 SUMO2 pseudogene 17 pseudogene pseudogene Approved 17q21.32 17q21.32 2013-10-18 2013-10-18 100128010 ENSG00000248278 OTTHUMG00000160509 NG_030097 PGOHUM00000237102 HGNC:49358 +HGNC:49356 SUMO2P18 SUMO2 pseudogene 18 pseudogene pseudogene Approved 8q22.1 08q22.1 2013-10-18 2013-10-18 106481679 ENSG00000253639 OTTHUMG00000164741 NG_043028 PGOHUM00000249444 HGNC:49356 +HGNC:49357 SUMO2P19 SUMO2 pseudogene 19 pseudogene pseudogene Approved 8q22.3 08q22.3 2013-10-18 2013-10-18 100422265 ENSG00000253328 OTTHUMG00000164794 NG_016617 PGOHUM00000249464 HGNC:49357 +HGNC:49355 SUMO2P20 SUMO2 pseudogene 20 pseudogene pseudogene Approved 8q13.3 08q13.3 2013-10-18 2013-10-18 2014-02-12 101927327 ENSG00000253721 OTTHUMG00000164433 PGOHUM00000249379 HGNC:49355 +HGNC:55054 SUMO2P21 SUMO2 pseudogene 21 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 728825 ENSG00000228532 NG_005816 +HGNC:11124 SUMO3 small ubiquitin like modifier 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 SMT3A SMT3H1 "SMT3 (suppressor of mif two 3, yeast) homolog 1|SMT3 suppressor of mif two 3 homolog 3 (yeast)|SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)" 1997-01-29 2004-05-19 2019-02-18 2019-02-18 6612 ENSG00000184900 OTTHUMG00000090256 uc002zfz.1 NM_001286416 "CCDS68220|CCDS33587" P55854 9119407 MGI:1336201 RGD:1561022 602231 HGNC:11124 "ENST00000332859.11|NM_006936.3" +HGNC:21181 SUMO4 small ubiquitin like modifier 4 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 dJ281H8.4 "SMT3H4|IDDM5" "SMT3 suppressor of mif two 3 homolog 4 (yeast)|SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)|insulin-dependent diabetes mellitus 5" 2003-11-27 2004-05-19 2019-02-18 2019-02-18 387082 ENSG00000177688 OTTHUMG00000015785 uc003qml.4 NM_001002255 CCDS34549 Q6EEV6 15123604 MGI:1336201 RGD:1595256 608829 HGNC:21181 "ENST00000326669.6|NM_001002255.2" +HGNC:18587 SUN1 Sad1 and UNC84 domain containing 1 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "KIAA0810|FLJ12407" Sad1 unc-84 domain protein 1 UNC84A unc-84 homolog A (C. elegans) SUN family 1968 2002-09-13 2010-01-27 2010-01-27 2014-11-18 23353 ENSG00000164828 OTTHUMG00000151426 uc003sjf.4 AF202724 NM_025154 "CCDS55080|CCDS55078|CCDS47525|CCDS43533|CCDS55079" O94901 11593002 MGI:1924303 RGD:1359142 607723 HGNC:18587 "ENST00000401592.6|NM_001130965.3" +HGNC:14210 SUN2 Sad1 and UNC84 domain containing 2 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 UNC84B unc-84 homolog B (C. elegans) SUN family 1968 2002-09-13 2010-01-27 2010-05-18 2018-11-19 25777 ENSG00000100242 OTTHUMG00000151031 uc010gxr.3 AF202723 NM_001199579 "CCDS13978|CCDS56231" Q9UH99 "10508607|10375507" MGI:2443011 RGD:1563141 613569 HGNC:14210 "ENST00000689035.1|NM_015374.3" +HGNC:22429 SUN3 Sad1 and UNC84 domain containing 3 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 MGC33329 SUNC1 Sad1 and UNC84 domain containing 1 SUN family 1968 2004-08-27 2010-01-27 2010-01-27 2015-08-26 256979 ENSG00000164744 OTTHUMG00000155646 uc064dof.1 AF429967 NM_152782 "CCDS34636|CCDS64647" Q8TAQ9 MGI:3041199 RGD:1591975 618984 HGNC:22429 "ENST00000297325.9|NM_001030019.2" +HGNC:16252 SUN5 Sad1 and UNC84 domain containing 5 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "dJ726C3.1|TSARG4" testis and spermatogenesis related gene 4 SPAG4L sperm associated antigen 4-like SUN family 1968 2001-07-17 2010-01-27 2010-01-27 2021-05-26 140732 ENSG00000167098 OTTHUMG00000032239 uc002wyi.4 AL121756 NM_080675 CCDS13209 Q8TC36 "9691178|10373309" MGI:1923657 RGD:1306357 613942 HGNC:16252 "ENST00000356173.8|NM_080675.4" HGNC:16252 +HGNC:55385 SUNO1 S-phase upregulated non-coding 1 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Long non-coding RNAs with non-systematic symbols 1992 2020-12-10 2020-12-10 119863868 ENSG00000277013 XR_007067231 33108271 +HGNC:11460 SUOX sulfite oxidase protein-coding gene gene with protein product Approved 12q13.2 12q13.2 1997-03-21 2021-05-26 6821 ENSG00000139531 OTTHUMG00000128503 uc001siz.4 BC065193 NM_000456 CCDS8901 P51687 7599189 MGI:2446117 RGD:619994 606887 119902 1.8.3.1 HGNC:11460 "ENST00000266971.8|NM_001032386.2" HGNC:11460 +HGNC:11466 SUPT3H SPT3 homolog, SAGA and STAGA complex component protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "SPT3|SPT3L" "suppressor of Ty (S.cerevisiae) 3 homolog|suppressor of Ty 3 homolog (S. cerevisiae)" "SAGA complex|MicroRNA protein coding host genes" "1059|1691" 1998-10-09 2015-09-24 2016-10-05 8464 ENSG00000196284 OTTHUMG00000014773 uc003oxp.5 AF069734 NM_181356 "CCDS34466|CCDS75464|CCDS34465" O75486 "9674425|9726987" MGI:1923723 RGD:1591316 602947 HGNC:11466 "ENST00000371459.6|NM_003599.4" +HGNC:11467 SUPT4H1 SPT4 homolog, DSIF elongation factor subunit protein-coding gene gene with protein product Approved 17q22 17q22 "SPT4H|Spt4|Supt4a" SUPT4H "suppressor of Ty (S.cerevisiae) 4 homolog 1|suppressor of Ty 4 homolog 1 (S. cerevisiae)" 1995-11-30 2015-09-25 2015-09-25 6827 ENSG00000213246 OTTHUMG00000178926 uc002iwe.3 U38817 NM_003168 CCDS11606 P63272 "8786137|10075709" MGI:107416 RGD:1306372 603555 HGNC:11467 "ENST00000225504.8|NM_003168.3" +HGNC:33981 SUPT4H1P1 SPT4 homolog, DSIF elongation factor subunit pseudogene pseudogene pseudogene Approved 2p12 02p12 SUPT4H1P SUPT4H1 pseudogene 2008-01-31 2015-09-25 2015-09-25 2015-09-25 100190947 ENSG00000226247 OTTHUMG00000152940 NG_008701 PGOHUM00000297921 HGNC:33981 +HGNC:50823 SUPT4H1P2 SPT4 homolog, DSIF elongation factor subunit pseudogene 2 pseudogene pseudogene Approved 12p13.31 12p13.31 2015-09-25 2015-09-25 2015-09-25 100287625 ENSG00000246115 OTTHUMG00000168673 NG_030121 PGOHUM00000239323 HGNC:50823 +HGNC:11469 SUPT5H SPT5 homolog, DSIF elongation factor subunit protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "SPT5H|SPT5|FLJ34157" "suppressor of Ty (S.cerevisiae) 5 homolog|suppressor of Ty 5 homolog (S. cerevisiae)" 1995-12-04 2015-09-25 2015-09-25 6829 ENSG00000196235 OTTHUMG00000182973 uc002olo.5 U56402 NM_003169 "CCDS12536|CCDS46072" O00267 "8975720|10075709" MGI:1202400 RGD:1563807 602102 471174 HGNC:11469 "ENST00000432763.7|NM_001111020.3" +HGNC:11470 SUPT6H SPT6 homolog, histone chaperone and transcription elongation factor protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA0162|SPT6H" "suppressor of Ty (S.cerevisiae) 6 homolog|suppressor of Ty 6 homolog (S. cerevisiae)|SPT6 homolog, histone chaperone" SH2 domain containing 741 1995-12-04 2019-02-01 2020-04-01 6830 ENSG00000109111 OTTHUMG00000179449 uc002hby.4 U38658 NM_003170 CCDS32596 Q7KZ85 "8786132|19141475|23503590" MGI:107726 RGD:1309290 601333 HGNC:11470 "ENST00000314616.11|NM_003170.5" +HGNC:30632 SUPT7L SPT7 like, STAGA complex subunit gamma protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "STAF65gamma|KIAA0764|SPT7L|STAF65" suppressor of Ty 7 (S. cerevisiae)-like SAGA complex 1059 2005-06-24 2019-11-26 2019-11-26 9913 ENSG00000119760 OTTHUMG00000151947 uc002rli.3 AF197954 NM_014860 "CCDS62886|CCDS42667|CCDS62885" O94864 "11564863|24852358" MGI:1919445 RGD:1562206 612762 HGNC:30632 "ENST00000337768.10|NM_014860.3" +HGNC:11465 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "FACT|FACTP140|SPT16/CDC68|FLJ14010|FLJ10857|CDC68" facilitates chromatin remodeling 140 kDa subunit "suppressor of Ty (S.cerevisiae) 16 homolog|suppressor of Ty 16 homolog (S. cerevisiae)" "M24 metallopeptidase family|Armadillo like helical domain containing" "1442|1492" 1996-08-21 2015-09-25 2016-10-05 11198 ENSG00000092201 OTTHUMG00000029685 uc001wao.2 AF152961 NM_007192 CCDS9569 Q9Y5B9 "9489704|11239457" MGI:1890948 RGD:1310032 605012 M24.974 HGNC:11465 "ENST00000216297.7|NM_007192.4" HGNC:11465 +HGNC:31388 SUPT16HP1 SPT16 homolog, facilitates chromatin remodeling subunit pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 bcm670 SUPT16HP "suppressor of Ty 16 homolog (S. cerevisiae) pseudogene|suppressor of Ty 16 homolog (S. cerevisiae) pseudogene 1" 2008-01-31 2013-10-18 2015-09-25 2015-09-25 400011 ENSG00000256238 OTTHUMG00000168818 XR_016968 PGOHUM00000291253 HGNC:31388 +HGNC:20596 SUPT20H SPT20 homolog, SAGA complex component protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "SPT20|bA421P11.4|P38IP" "p38 interacting protein|transcription factor (p38 interacting protein)" "C13orf19|FAM48A" "chromosome 13 open reading frame 19|family with sequence similarity 48, member A|suppressor of Ty 20 homolog (S. cerevisiae)" SAGA complex 1059 2004-04-16 2012-11-29 2015-09-25 2016-10-05 55578 ENSG00000102710 OTTHUMG00000016747 uc001uwj.4 AF093250 NM_017569 "CCDS61311|CCDS9362|CCDS31959" Q8NEM7 "12070015|16685401|19114550" MGI:1929651 RGD:1307812 613417 HGNC:20596 "ENST00000350612.11|NM_001014286.3" +HGNC:30773 SUPT20HL1 SUPT20H like 1 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 SPT20L similar to transcription factor (p38 interacting protein) FAM48B1 "family with sequence similarity 48, member B1|suppressor of Ty 20 homolog (S. cerevisiae)-like 1|SPT20 homolog, SAGA complex component like 1" 2004-08-11 2012-11-29 2017-05-12 2021-03-08 100130302 ENSG00000223731 OTTHUMG00000021267 AY736017 NM_001136234 Q3ZLR7 19114550 MGI:1929651 PGOHUM00000241666 HGNC:30773 "ENST00000686983.1|NM_001136234.3" +HGNC:31797 SUPT20HL2 SUPT20H like 2 protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 FAM48B2 "family with sequence similarity 48, member B2|suppressor of Ty 20 homolog (S. cerevisiae)-like 2|SPT20 homolog, SAGA complex component like 2" 2004-08-11 2012-11-29 2017-05-12 2021-03-08 170067 ENSG00000223611 OTTHUMG00000021265 NM_001136233 P0C7V6 MGI:1929651 PGOHUM00000241211 HGNC:31797 "ENST00000486479.3|NM_001136233.3" +HGNC:11471 SUPV3L1 Suv3 like RNA helicase protein-coding gene gene with protein product Approved 10q22.1 10q22.1 SUV3 "suppressor of var1 (S.cerevisiae) 3-like 1|suppressor of var1, 3-like 1 (S. cerevisiae)" RNA helicases 1168 1998-02-20 2016-01-08 2016-01-08 6832 ENSG00000156502 OTTHUMG00000018375 uc001jpe.2 AF042169 NM_003171 CCDS7287 Q8IYB8 "9925937|16176273|25446650" MGI:2441711 RGD:1305565 605122 HGNC:11471 "ENST00000359655.9|NM_003171.5" +HGNC:11474 SURF1 SURF1 cytochrome c oxidase assembly factor protein-coding gene gene with protein product Approved 9q34.2 09q34.2 SHY1 surfeit locus protein 1 surfeit 1 Mitochondrial respiratory chain complex assembly factors 645 1989-11-29 2019-01-22 2021-05-26 6834 ENSG00000148290 OTTHUMG00000020866 uc004cdh.3 NM_003172 "CCDS6966|CCDS75928" Q15526 "8499913|9843204" MGI:98443 RGD:620527 185620 119904 HGNC:11474 "ENST00000371974.8|NM_003172.4" HGNC:11474 +HGNC:11475 SURF2 surfeit 2 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 surfeit locus protein 2 1989-11-29 2016-10-05 6835 ENSG00000148291 OTTHUMG00000020867 uc004cdi.4 NM_017503 CCDS6967 Q15527 MGI:98444 RGD:1565817 185630 HGNC:11475 "ENST00000371964.5|NM_017503.5" +HGNC:11476 SURF4 surfeit 4 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "ERV29|FLJ22993|MGC102753" "surfeit locus protein 4|surface 4 integral membrane protein" 1989-11-29 2016-10-05 6836 ENSG00000148248 OTTHUMG00000020868 uc004cdj.5 NM_033161 "CCDS65178|CCDS75929|CCDS65177|CCDS6968" O15260 "8499913|7540914" MGI:98445 RGD:1561980 185660 HGNC:11476 "ENST00000371989.8|NM_033161.4" +HGNC:11478 SURF6 surfeit 6 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "FLJ30322|RRP14" surfeit locus protein 6 1998-03-20 2016-10-05 6838 ENSG00000148296 OTTHUMG00000020871 uc004cdb.6 AF186772 NM_006753 CCDS6962 O75683 "9740673|15629442|21063453" MGI:98447 RGD:1307382 185642 HGNC:11478 "ENST00000372022.6|NM_006753.6" +HGNC:37722 SURF6P1 surfeit 6 pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 2010-02-05 2016-10-05 643470 ENSG00000228518 OTTHUMG00000036417 NG_016547 PGOHUM00000233969 HGNC:37722 +HGNC:25413 SUSD1 sushi domain containing 1 protein-coding gene gene with protein product Approved 9q31.3-q32 09q31.3-q32 DKFZP761E1824 Sushi domain containing 1179 2004-01-27 2018-02-13 64420 ENSG00000106868 OTTHUMG00000020499 uc004bfu.5 AL137432 NM_022486 "CCDS65106|CCDS65105|CCDS6783" Q6UWL2 12975309 MGI:3651543 RGD:1306966 HGNC:25413 "ENST00000374270.8|NM_022486.5" +HGNC:30667 SUSD2 sushi domain containing 2 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "BK65A6.2|FLJ22778|W5C5" Sushi domain containing 1179 2004-01-27 2019-03-19 56241 ENSG00000099994 OTTHUMG00000150792 uc002zzn.2 AK026431 NM_019601 CCDS13824 Q9UGT4 23406305 MGI:1918983 RGD:1308595 615825 HGNC:30667 "ENST00000358321.4|NM_019601.4" +HGNC:33889 SUSD2P1 sushi domain containing 2 pseudogene 1 pseudogene pseudogene Approved 22q11.21 22q11.21 2007-11-21 2008-10-22 729568 NG_008830 HGNC:33889 +HGNC:35197 SUSD2P2 sushi domain containing 2 pseudogene 2 pseudogene pseudogene Approved 22q11.21 22q11.21 2008-10-22 2017-01-17 729450 ENSG00000278110 OTTHUMG00000188356 XR_015550 PGOHUM00000297451 HGNC:35197 +HGNC:28391 SUSD3 sushi domain containing 3 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 MGC26847 Sushi domain containing 1179 2004-01-29 2016-10-05 203328 ENSG00000157303 OTTHUMG00000020241 uc033dbq.2 AK128289 NM_145006 "CCDS6701|CCDS69620|CCDS75857" Q96L08 12975309 MGI:1913579 RGD:1310933 616429 HGNC:28391 "ENST00000375472.8|NM_145006.4" +HGNC:25470 SUSD4 sushi domain containing 4 protein-coding gene gene with protein product Approved 1q41 01q41 FLJ10052 Sushi domain containing 1179 2005-04-22 2019-03-19 55061 ENSG00000143502 OTTHUMG00000037936 uc001hny.5 AK096265 NM_017982 "CCDS41471|CCDS31034" Q5VX71 23482636 MGI:2138351 RGD:1564043 615827 HGNC:25470 "ENST00000366878.9|NM_017982.4" +HGNC:29061 SUSD5 sushi domain containing 5 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 KIAA0527 Sushi domain containing 1179 2006-01-13 2006-01-13 2018-11-19 26032 ENSG00000173705 OTTHUMG00000155829 uc003cfo.2 AB011099 NM_015551 CCDS46787 O60279 MGI:2685972 RGD:1561132 HGNC:29061 "ENST00000309558.8|NM_015551.2" +HGNC:19956 SUSD6 sushi domain containing 6 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 KIAA0247 KIAA0247 Sushi domain containing 1179 2003-11-21 2014-12-08 2014-12-08 2014-12-08 9766 ENSG00000100647 OTTHUMG00000171234 D87434 NM_014734 CCDS9796 Q92537 9039502 MGI:2444661 RGD:1595528 616761 HGNC:19956 "ENST00000342745.5|NM_014734.4" +HGNC:11479 SUV39H1 SUV39H1 histone lysine methyltransferase protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 KMT1A SUV39H "suppressor of variegation 3-9 (Drosophila) homolog 1|suppressor of variegation 3-9 homolog 1 (Drosophila)|suppressor of variegation 3-9 homolog 1" "Lysine methyltransferases|SET domain containing|eNoSC complex" "487|1399|1477" 1996-04-12 2021-08-09 2021-08-09 6839 ENSG00000101945 OTTHUMG00000022701 uc004dkn.5 AF019968 NM_003173 "CCDS65252|CCDS14304" O43463 10202156 MGI:1099440 RGD:1565692 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SUV39H1 300254 objectId:2715 HGNC:11479 "ENST00000376687.4|NM_003173.4" +HGNC:17287 SUV39H2 SUV39H2 histone lysine methyltransferase protein-coding gene gene with protein product Approved 10p13 10p13 "FLJ23414|KMT1B" histone methyltransferase SUV39H2 "suppressor of variegation 3-9 homolog 2 (Drosophila)|suppressor of variegation 3-9 homolog 2" "Lysine methyltransferases|SET domain containing" "487|1399" 2003-11-11 2021-08-09 2021-08-09 79723 ENSG00000152455 OTTHUMG00000017718 uc021png.2 AK027067 NM_024670 "CCDS53494|CCDS53493|CCDS7104" Q9H5I1 11094092 MGI:1890396 RGD:1306969 606503 objectId:2716 HGNC:17287 "ENST00000354919.11|NM_001193424.2" +HGNC:55188 SUV39H2-DT SUV39H2 divergent transcript non-coding RNA RNA, long non-coding Approved 10p13 10p13 Divergent transcripts 1990 2020-08-12 2020-08-12 118568810 ENSG00000272853 +HGNC:17101 SUZ12 SUZ12 polycomb repressive complex 2 subunit protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "JJAZ1|KIAA0160|CHET9" suppressor of zeste 12 homolog (Drosophila) "Zinc fingers C2H2-type|Polycomb repressive complex 2" "28|1347" 2004-12-14 2019-01-22 2021-05-26 23512 ENSG00000178691 OTTHUMG00000132813 uc002hgs.3 D63881 NM_015355 "CCDS11270|CCDS82101" Q15022 "8590280|11371647|18784248" MGI:1261758 RGD:1593621 SUZ12 606245 431087 HGNC:17101 "ENST00000322652.10|NM_015355.4" HGNC:17101 +HGNC:32421 SUZ12P1 SUZ12 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 SUZ12P "suppressor of zeste 12 homolog pseudogene|suppressor of zeste 12 homolog pseudogene 1|SUZ12 polycomb repressive complex 2 subunit pseudogene 1" 2005-12-15 2012-04-04 2018-04-23 2018-04-23 440423 ENSG00000264538 OTTHUMG00000178989 BC047718 NG_005675 17999360 PGOHUM00000237350 HGNC:32421 +HGNC:43872 SUZ12P2 SUZ12 pseudogene 2 pseudogene pseudogene Approved 14q11.2 14q11.2 "suppressor of zeste 12 homolog pseudogene 2|SUZ12 polycomb repressive complex 2 subunit pseudogene 2" 2012-04-04 2018-04-23 2018-04-23 100421539 NG_027340 PGOHUM00000248111 HGNC:43872 +HGNC:20566 SV2A synaptic vesicle glycoprotein 2A protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "SV2|KIAA0736" 2003-02-24 2014-11-19 9900 ENSG00000159164 OTTHUMG00000012209 uc001etg.4 AB018279 NM_001278719 CCDS940 Q7L0J3 "7681585|10611374" MGI:1927139 RGD:619715 185860 objectId:2634 HGNC:20566 "ENST00000369146.8|NM_014849.5" +HGNC:16874 SV2B synaptic vesicle glycoprotein 2B protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "KIAA0735|HsT19680" 2003-02-24 2014-11-19 9899 ENSG00000185518 OTTHUMG00000149833 uc059nkh.1 AB018278 NM_014848 "CCDS10370|CCDS53972" Q7L1I2 "9872452|7681585" MGI:1927338 RGD:619716 185861 HGNC:16874 "ENST00000394232.6|NM_001323032.3" +HGNC:30670 SV2C synaptic vesicle glycoprotein 2C protein-coding gene gene with protein product Approved 5q13.3 05q13.3 2004-04-01 2016-10-05 22987 ENSG00000122012 OTTHUMG00000162384 uc003kei.2 AB028977 NM_001297716 "CCDS75261|CCDS43331" Q496J9 "10470851|9801366" MGI:1922459 RGD:619718 610291 HGNC:30670 "ENST00000502798.7|NM_014979.4" +HGNC:55583 SV2C-AS1 SV2C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 Antisense RNAs 1987 2021-04-23 2021-04-23 105379041 ENSG00000248127 XR_948490 +HGNC:29204 SVBP small vasohibin binding protein protein-coding gene gene with protein product Approved 1p34.2 01p34.2 MGC45441 CCDC23 coiled-coil domain containing 23 2005-07-26 2015-06-15 2015-06-15 2015-06-15 374969 ENSG00000177868 OTTHUMG00000007566 "AL512353|CAH72714" NM_199342 CCDS474 Q8N300 20736312 MGI:1916466 RGD:1311232 617853 HGNC:29204 "ENST00000372521.9|NM_199342.4" HGNC:29204 +HGNC:15985 SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "bA427L11.3|POLYDOM|FLJ13529" C9orf13 chromosome 9 open reading frame 13 Sushi domain containing 1179 2001-07-04 2005-03-17 2005-03-15 2016-10-05 79987 ENSG00000165124 OTTHUMG00000020482 uc010mtz.4 AK027870 NM_153366 CCDS48004 Q4LDE5 MGI:1928849 RGD:1588987 611691 HGNC:15985 "ENST00000374469.6|NM_153366.4" +HGNC:11480 SVIL supervillin protein-coding gene gene with protein product Approved 10p11.23 10p11.23 archvillin "Gelsolin/villins|MicroRNA protein coding host genes" "950|1691" 1998-05-07 2016-10-05 6840 ENSG00000197321 OTTHUMG00000017882 uc001iut.2 AF051851 NM_001323599 "CCDS7164|CCDS7163" O95425 9382871 MGI:2147319 RGD:1306354 604126 HGNC:11480 "ENST00000355867.9|NM_021738.3" +HGNC:51219 SVIL-AS1 SVIL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p11.23 10p11.23 RP11-534G20.3 Antisense RNAs 1987 2014-08-07 2016-12-21 102724316 ENSG00000224597 OTTHUMG00000017881 NR_110920 27716329 SVIL-AS1 HGNC:51219 +HGNC:44959 SVIL2P supervillin family member 2, pseudogene pseudogene pseudogene Approved 10p11.23 10p11.23 SVILP1 supervillin pseudogene 1 2012-12-20 2018-05-25 2018-05-25 2018-05-25 645954 ENSG00000234814 OTTHUMG00000017900 NR_036438 PGOHUM00000261092 HGNC:44959 +HGNC:25238 SVIP small VCP interacting protein protein-coding gene gene with protein product Approved 11p14.3 11p14.3 DKFZp313A2432 small VCP/p97-interacting protein 2009-03-10 2016-06-21 2016-06-21 258010 ENSG00000198168 OTTHUMG00000166072 uc001mqp.5 AF527534 NM_148893 CCDS41627 Q8NHG7 "18793143|17872946|12529442" MGI:1922994 RGD:1565432 HGNC:25238 "ENST00000354193.5|NM_148893.3" +HGNC:25417 SVOP SV2 related protein protein-coding gene gene with protein product Approved 12q24.11 12q24.11 DKFZp761H039 SV2 related protein homolog (rat) 2006-01-04 2015-06-23 2015-07-22 55530 ENSG00000166111 OTTHUMG00000169432 uc031zmo.2 BC033587 NM_018711 CCDS73520 Q8N4V2 "9801366|19390693|21953179" MGI:1915916 RGD:620277 611699 HGNC:25417 "ENST00000610966.5|NM_018711.5" +HGNC:27034 SVOPL SVOP like protein-coding gene gene with protein product Approved 7q34 07q34 MGC46715 "SV2 related protein homolog (rat)-like|SVOP-like" 2007-01-24 2016-03-15 2021-04-13 136306 ENSG00000157703 OTTHUMG00000155870 uc011kqh.3 BC036796 NM_174959 "CCDS47721|CCDS5848" Q8N434 MGI:2444335 RGD:1566053 LRG_1103|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1103.xml 611700 HGNC:27034 "ENST00000674285.1|NM_001139456.2" +HGNC:17070 SWAP70 switching B cell complex subunit SWAP70 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA0640|SWAP-70" switch-associated protein 70 "SWAP switching B-cell complex 70kDa subunit|SWAP switching B-cell complex subunit 70" "Pleckstrin homology domain containing|EF-hand domain containing|Minor histocompatibility antigens" "682|863|870" 2009-05-20 2017-12-06 2017-12-06 23075 ENSG00000133789 OTTHUMG00000165865 uc001mhw.4 AB014540 NM_015055 "CCDS31426|CCDS73257" Q9UH65 "9734811|10681448" MGI:1298390 RGD:1305579 604762 HGNC:17070 "ENST00000318950.11|NM_015055.4" +HGNC:31412 SWI5 SWI5 homologous recombination repair protein protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "bA395P17.9|SAE3" C9orf119 "chromosome 9 open reading frame 119|SWI5 recombination repair homolog (yeast)" 2004-04-14 2011-07-29 2015-06-30 2016-10-05 375757 ENSG00000175854 OTTHUMG00000020729 uc004bup.4 BC029911 NM_001040011 CCDS83422 Q1ZZU3 "20976249|21252223" MGI:1920181 RGD:1559966 616528 HGNC:31412 +HGNC:43709 SWINGN SWI/SNF complex interacting GAS6 enhancer non-coding RNA non-coding RNA RNA, long non-coding Approved 13q34 13q34 SWI/SNF Interacting GAS6 enhancer Noncoding RNA LINC00565 long intergenic non-protein coding RNA 565 Long non-coding RNAs with non-systematic symbols 1992 2012-01-31 2022-03-23 2022-03-23 2022-03-25 100861555 ENSG00000260910 OTTHUMG00000176086 uc031qnq.2 AK092053 NR_047495 32071317 HGNC:43709 +HGNC:26638 SWSAP1 SWIM-type zinc finger 7 associated protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ35119|ZSWIM7AP1|SWS1AP1" "zinc finger, SWIM-type containing 7 associated protein 1|SWS1-associated protein 1" C19orf39 chromosome 19 open reading frame 39 CTLH complex 1561 2006-03-27 2011-11-24 2011-11-24 2014-11-19 126074 ENSG00000173928 OTTHUMG00000182025 uc002mrg.2 AK092438 NM_175871 CCDS12259 Q6NVH7 21965664 MGI:1914212 RGD:1308026 614536 HGNC:26638 "ENST00000674460.1|NM_175871.4" +HGNC:16785 SWT1 SWT1 RNA endoribonuclease homolog protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "FLJ20121|HsSwt1" C1orf26 "chromosome 1 open reading frame 26|SWT1 RNA endoribonuclease homolog (S. cerevisiae)|SWT1, RNA endoribonuclease homolog" Endoribonucleases 1687 2001-10-08 2011-01-24 2019-01-25 2019-01-25 54823 ENSG00000116668 OTTHUMG00000035390 uc001grh.5 AF288392 NM_017673 CCDS1367 Q5T5J6 "11318611|19127978|23768067" MGI:1914125 RGD:1308695 619513 HGNC:16785 "ENST00000367500.9|NM_017673.7" +HGNC:16273 SYAP1 synapse associated protein 1 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "FLJ14495|PRO3113" SAP47 homolog (Drosophila) 2001-07-24 2010-06-25 2020-04-02 94056 ENSG00000169895 OTTHUMG00000021192 uc004cxp.4 AF338728 NM_032796 CCDS14177 Q96A49 11483580 MGI:1914293 RGD:1303113 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYAP1 HGNC:16273 "ENST00000380155.4|NM_032796.4" +HGNC:26011 SYBU syntabulin protein-coding gene gene with protein product Approved 8q23.2 08q23.2 "FLJ20366|GOLSYN|KIAA1472|OCSYN|SNPHL" syntaphilin-like syntabulin (syntaxin-interacting) 2010-04-29 2015-11-09 2015-11-09 55638 ENSG00000147642 OTTHUMG00000165634 uc010mcv.4 AB040905 NM_017786 "CCDS43763|CCDS43764|CCDS47912|CCDS83315|CCDS55271" Q9NX95 "17611281|16750881|16157705|15656992|15459722" MGI:2442392 RGD:1564335 611568 HGNC:26011 "ENST00000276646.14|NM_001099754.2" +HGNC:55741 SYBU-AS1 SYBU antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q23.2 08q23.2 Antisense RNAs 1987 2021-07-20 2021-07-20 100132813 ENSG00000248050 NR_161375 +HGNC:28852 SYCE1 synaptonemal complex central element protein 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "bA108K14.6|CT76" cancer/testis antigen 76 C10orf94 chromosome 10 open reading frame 94 2004-03-16 2005-09-27 2005-09-27 2021-05-26 93426 ENSG00000171772 OTTHUMG00000019321 uc057xak.1 AY027808 NM_201564 "CCDS7687|CCDS44500" Q8N0S2 11829491 MGI:1921325 RGD:1559853 611486 413863 HGNC:28852 "ENST00000343131.7|NM_001143764.3" HGNC:28852 +HGNC:37236 SYCE1L synaptonemal complex central element protein 1 like protein-coding gene gene with protein product Approved 16q23.1 16q23.1 MRP2 meiosis-related protein synaptonemal complex central element protein 1-like 2009-10-06 2016-03-22 2016-03-22 100130958 ENSG00000205078 OTTHUMG00000176809 uc010vnh.2 NM_001129979 CCDS45533 A8MT33 16328886 MGI:1922247 RGD:2320134 HGNC:37236 "ENST00000378644.5|NM_001129979.3" +HGNC:27411 SYCE2 synaptonemal complex central element protein 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 CESC1 central element synaptonemal complex 1 2005-09-27 2018-11-19 256126 ENSG00000161860 OTTHUMG00000180562 uc002mvr.3 AK097443 NM_001105578 CCDS42509 Q6PIF2 15944401 MGI:1919096 RGD:1311867 611487 HGNC:27411 "ENST00000293695.8|NM_001105578.2" +HGNC:35245 SYCE3 synaptonemal complex central element protein 3 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 testis highly expressed protein 2 C22orf41 chromosome 22 open reading frame 41 2008-10-30 2011-10-05 2011-10-05 2015-08-26 644186 ENSG00000217442 OTTHUMG00000150273 uc010hbe.4 NM_001123225 CCDS46733 A1L190 21637789 MGI:1922709 RGD:1586367 615775 HGNC:35245 "ENST00000406915.4|NM_001123225.3" +HGNC:18442 SYCN syncollin protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "SYL|FLJ27441" INSSA1 insulin synthesis associated 1 2005-03-22 2005-05-26 2015-07-22 342898 ENSG00000179751 OTTHUMG00000182803 uc002okr.3 BC039541 NM_001080468 CCDS46070 Q0VAF6 11839820 MGI:1915666 RGD:620862 HGNC:18442 "ENST00000318438.7|NM_001080468.4" +HGNC:11487 SYCP1 synaptonemal complex protein 1 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "HOM-TES-14|SCP1|CT8" cancer/testis antigen 8 1997-01-14 2016-10-05 6847 ENSG00000198765 OTTHUMG00000012057 uc001efr.5 D67035 NM_003176 "CCDS879|CCDS72840" Q15431 9560255 MGI:105931 RGD:3794 602162 HGNC:11487 "ENST00000369522.8|NM_003176.4" +HGNC:11490 SYCP2 synaptonemal complex protein 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 SCP2 1999-07-21 2014-11-19 10388 ENSG00000196074 OTTHUMG00000032872 uc002yaz.4 Y08982 NM_014258 CCDS13482 Q9BX26 "10341103|9592139" MGI:1933281 RGD:69429 604105 HGNC:11490 "ENST00000357552.8|NM_014258.4" +HGNC:21537 SYCP2L synaptonemal complex protein 2 like protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "dJ62D2.1|NO145" C6orf177 "chromosome 6 open reading frame 177|synaptonemal complex protein 2-like" 2003-11-26 2007-07-02 2015-11-23 2015-11-23 221711 ENSG00000153157 OTTHUMG00000014250 uc003mzo.4 AK128130 NM_194299 CCDS43423 Q5T4T6 MGI:2685114 RGD:1564922 616799 HGNC:21537 "ENST00000283141.11|NM_001040274.3" +HGNC:18130 SYCP3 synaptonemal complex protein 3 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 2002-02-05 2014-11-19 50511 ENSG00000139351 OTTHUMG00000150132 uc001tiq.4 "AF492003|AI075991" NM_153694 CCDS9087 Q8IZU3 "12213195|10854409" MGI:109542 RGD:3795 604759 448829 HGNC:18130 "ENST00000392924.2|NM_001177949.2" +HGNC:25824 SYDE1 synapse defective Rho GTPase homolog 1 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "7h3|FLJ13511|SYD1" synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 2005-05-31 2016-04-29 2016-04-29 85360 ENSG00000105137 OTTHUMG00000183207 uc002nah.2 BC029926 NM_033025 "CCDS74299|CCDS12324" Q6ZW31 23791195 MGI:1918959 RGD:1305857 617377 HGNC:25824 "ENST00000342784.7|NM_033025.6" +HGNC:25841 SYDE2 synapse defective Rho GTPase homolog 2 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 FLJ13815 synapse defective 1, Rho GTPase, homolog 2 (C. elegans) C2 domain containing 823 2005-05-31 2005-08-09 2016-04-29 2016-04-29 84144 ENSG00000097096 OTTHUMG00000009956 uc009wcm.4 AL834286 NM_032184 CCDS44169 Q5VT97 MGI:3036264 RGD:1564206 HGNC:25841 "ENST00000341460.6|NM_032184.2" HGNC:25841 +HGNC:19824 SYF2 SYF2 pre-mRNA splicing factor protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "p29|DKFZp564O2082|NTC31|fSAP29" functional spliceosome-associated protein 29 CBPIN "CCNDBP1 interactor|SYF2 homolog, RNA splicing factor (S. cerevisiae)" "Spliceosomal C complex|Spliceosomal P complex" "1510|1516" 2005-05-06 2005-09-14 2016-03-11 2016-03-11 25949 ENSG00000117614 OTTHUMG00000043610 uc001bjt.2 AF273089 NM_015484 "CCDS258|CCDS259" O95926 11118353 MGI:1915842 RGD:621592 607090 HGNC:19824 "ENST00000236273.9|NM_015484.5" +HGNC:19925 SYF2P1 SYF2 pre-mRNA splicing factor pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 "CBPINP|SYF2P" "CCNDBP1 interactor pseudogene|SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene|SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene 1" 2003-01-13 2010-04-20 2016-03-11 2016-03-11 317778 ENSG00000258350 OTTHUMG00000170511 AL117355 NG_002474 PGOHUM00000292308 HGNC:19925 +HGNC:38139 SYF2P2 SYF2 pre-mRNA splicing factor pseudogene 2 pseudogene pseudogene Approved 9p13.3 09p13.3 SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene 2 2010-04-20 2016-03-11 2016-10-05 100128275 ENSG00000233148 OTTHUMG00000019845 NG_021644 PGOHUM00000236447 HGNC:38139 +HGNC:11491 SYK spleen associated tyrosine kinase protein-coding gene gene with protein product Approved 9q22.2 09q22.2 spleen tyrosine kinase "SH2 domain containing|Syk family tyrosine kinases" "741|1464" 1994-12-13 2016-06-15 2016-10-05 6850 ENSG00000165025 OTTHUMG00000020200 uc004aqz.4 L28824 NM_001135052 "CCDS47992|CCDS6688" P43405 "8082894|1423621" MGI:99515 RGD:3796 SYK 600085 objectId:2230 HGNC:11491 "ENST00000375754.9|NM_003177.7" +HGNC:22935 SYMPK symplekin scaffold protein protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "SYM|SPK|Pta1" symplekin Armadillo like helical domain containing 1492 2003-07-24 2021-09-10 2021-09-10 8189 ENSG00000125755 OTTHUMG00000150151 uc002pdn.4 U49240 NM_004819 CCDS12676 Q92797 "8769423|9330635" MGI:1915438 RGD:1306735 602388 HGNC:22935 "ENST00000245934.12|NM_004819.3" +HGNC:11494 SYN1 synapsin I protein-coding gene gene with protein product Approved Xp11.3-p11.23 Xp11.3-p11.23 Synapsin-1 MRX50 mental retardation, X-linked 50 Synapsins 1325 2001-06-22 2021-05-26 6853 ENSG00000008056 OTTHUMG00000021454 uc004die.4 NM_006950 "CCDS35233|CCDS14280" P17600 28973667 MGI:98460 RGD:3797 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYN1 313440 119906 HGNC:11494 "ENST00000295987.13|NM_006950.3" HGNC:11494 +HGNC:11495 SYN2 synapsin II protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "SYNII|SYNIIa|SYNIIb" Synapsin-2 Synapsins 1325 1990-01-15 2018-10-25 6854 ENSG00000157152 OTTHUMG00000155335 uc032rek.2 NM_133625 "CCDS74900|CCDS74901" Q92777 8530057 MGI:103020 RGD:3798 600755 HGNC:11495 "ENST00000621198.5|NM_133625.6" +HGNC:11496 SYN3 synapsin III protein-coding gene gene with protein product Approved 22q12.3 22q12.3 Synapsin-3 Synapsins 1325 1998-10-14 2018-10-25 8224 ENSG00000185666 OTTHUMG00000031004 uc003amx.4 AF046873 NM_001135774 CCDS13908 O14994 9539796 MGI:1351334 RGD:3799 602705 HGNC:11496 "ENST00000358763.7|NM_003490.4" +HGNC:40569 SYN3-AS1 SYN3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 Antisense RNAs 1987 2020-03-27 2020-03-27 105373004 ENSG00000236054 OTTHUMG00000058269 XR_001755501 +HGNC:28897 SYNC syncoilin, intermediate filament protein protein-coding gene gene with protein product Approved 1p35.1 01p35.1 SYNCOILIN SYNC1 syncoilin, intermediate filament 1 Intermediate filaments Type III 610 2005-02-09 2008-09-19 2008-09-19 2014-11-19 81493 ENSG00000162520 OTTHUMG00000008087 uc001bvt.3 AK024707 NM_030786 "CCDS53294|CCDS367" Q9H7C4 11053421 MGI:1916078 RGD:1307970 611750 HGNC:28897 HGNC:28897 "ENST00000409190.8|NM_030786.3" +HGNC:16918 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein protein-coding gene gene with protein product Approved 6q14.3 06q14.3 "NSAP1|GRY-RBP|dJ3J17.2|HNRPQ1|hnRNP-Q|HNRNPQ" heterogeneous nuclear ribonucleoprotein Q "RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins" "725|1950" 2003-11-27 2016-04-06 2016-10-05 10492 ENSG00000135316 OTTHUMG00000015141 uc003pla.3 AF037448 NM_006372 "CCDS75491|CCDS55041|CCDS5005" O60506 "9847309|11352648" MGI:1891690 RGD:1305683 616686 471176 HGNC:16918 "ENST00000369622.8|NM_006372.5" +HGNC:15885 SYNDIG1 synapse differentiation inducing 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "FLJ14220|IFITMD5|DSPC2" "interferon induced transmembrane protein domain containing 5|synapse differentiation induced gene 1|dispanin subfamily C member 2" "C20orf39|TMEM90B" "chromosome 20 open reading frame 39|transmembrane protein 90B" interferon induced transmembrane protein domain containing 1600 2001-06-21 2011-06-30 2011-06-30 2020-05-04 79953 ENSG00000101463 OTTHUMG00000032104 uc002wtw.3 AK024282 NM_024893 CCDS13164 Q9H7V2 20152115 MGI:3702158 RGD:1310753 614311 HGNC:15885 "ENST00000376862.4|NM_024893.3" HGNC:15885 +HGNC:32388 SYNDIG1L synapse differentiation inducing 1 like protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "capucin|IFITMD4|DSPC1" "caudate-and putamen-enriched sequence|interferon induced transmembrane protein domain containing 4|dispanin subfamily C member 1" TMEM90A transmembrane protein 90A interferon induced transmembrane protein domain containing 1600 2006-03-20 2011-06-30 2016-01-19 2020-04-20 646658 ENSG00000183379 OTTHUMG00000171210 uc001xpx.2 NM_001105579 CCDS41970 A6NDD5 16359841 MGI:2685107 RGD:1589004 609999 HGNC:32388 "ENST00000331628.8|NM_001105579.2" +HGNC:17089 SYNE1 spectrin repeat containing nuclear envelope protein 1 protein-coding gene gene with protein product Approved 6q25.2 06q25.2 "SYNE-1B|KIAA0796|8B|Nesprin-1|enaptin|MYNE1|CPG2|dJ45H2.2|SCAR8|ARCA1|Nesp1" "myocyte nuclear envelope protein 1|nuclear envelope spectrin repeat-1" C6orf98 "chromosome 6 open reading frame 98|spectrin repeat containing, nuclear envelope 1" "Spectrin repeat containing nuclear envelope family|KASH domain containing" "1252|2010" 2003-02-19 2016-04-29 2021-05-26 23345 ENSG00000131018 OTTHUMG00000015841 uc003qou.4 AB018339 NM_182961 "CCDS87458|CCDS5236|CCDS5235" Q8NF91 "9872452|10878022" MGI:1927152 RGD:620546 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SYNE1|LRG_427|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_427.xml" 608441 159219 HGNC:17089 "ENST00000367255.10|NM_182961.4" HGNC:17089 +HGNC:40793 SYNE1-AS1 SYNE1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.2 06q25.2 SYNE1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-05-31 2012-08-15 2014-11-19 100505475 ENSG00000234577 OTTHUMG00000015843 uc063sin.1 "CK821189|BI962584|BX107936" NR_120501 SYNE1-AS1 HGNC:40793 +HGNC:17084 SYNE2 spectrin repeat containing nuclear envelope protein 2 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "SYNE-2|DKFZP434H2235|Nesprin-2|NUANCE|NUA|KIAA1011|Nesp2" "nuclear envelope spectrin repeat-2|nucleus and actin connecting element" spectrin repeat containing, nuclear envelope 2 "Spectrin repeat containing nuclear envelope family|KASH domain containing" "1252|2010" 2003-02-19 2016-04-29 2021-05-26 23224 ENSG00000054654 OTTHUMG00000140349 uc001xgl.5 AB023228 NM_182914 "CCDS45125|CCDS45124|CCDS9761|CCDS41963" Q8WXH0 "10231032|10878022" MGI:2449316 RGD:1305248 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=SYNE2|LRG_872|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_872.xml" 608442 209271 HGNC:17084 "ENST00000555002.6|NM_182914.3" HGNC:17084 +HGNC:19861 SYNE3 spectrin repeat containing nuclear envelope family member 3 protein-coding gene gene with protein product Approved 14q32.13 14q32.13 "FLJ25605|NET53|Nesprin-3|Nesp3" "C14orf49|LINC00341|C14orf139|NCRNA00341" "chromosome 14 open reading frame 49|long intergenic non-protein coding RNA 341|chromosome 14 open reading frame 139|non-protein coding RNA 341" "Spectrin repeat containing nuclear envelope family|KASH domain containing" "1252|2010" 2002-11-27 2012-05-31 2016-04-29 2016-11-18 161176 ENSG00000176438 OTTHUMG00000171632 uc001yei.4 AK098471 NM_152592 "CCDS9935|CCDS86430" Q6ZMZ3 MGI:2442408 RGD:1304563 610861 HGNC:19861 "ENST00000682763.1|NM_152592.6" +HGNC:26703 SYNE4 spectrin repeat containing nuclear envelope family member 4 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ36445|Nesprin-4|Nesp4" "C19orf46|DFNB76" "chromosome 19 open reading frame 46|deafness, autosomal recessive 76" "Spectrin repeat containing nuclear envelope family|KASH domain containing" "1252|2010" 2006-07-12 2012-05-31 2016-04-29 2021-05-26 163183 ENSG00000181392 OTTHUMG00000048135 uc002ocq.2 BC038360 NM_001039876 "CCDS77285|CCDS42553" Q8N205 23348741 MGI:2141950 RGD:1304580 LRG_1385|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1385.xml 615535 328743 HGNC:26703 "ENST00000324444.9|NM_001039876.3" HGNC:26703 +HGNC:11497 SYNGAP1 synaptic Ras GTPase activating protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "SYNGAP|RASA5|KIAA1938" synaptic Ras GTPase activating protein 1 homolog (rat) "C2 and RasGAP domain containing|MicroRNA protein coding host genes" "830|1691" 1999-12-08 2010-06-25 2021-05-26 8831 ENSG00000197283 OTTHUMG00000031096 uc011dri.3 AB067525 NM_006772 CCDS34434 Q96PV0 "9581761|18323856" MGI:3039785 RGD:621090 LRG_1193|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1193.xml 603384 188809 HGNC:11497 "ENST00000646630.1|NM_006772.3" HGNC:11497 +HGNC:53831 SYNGAP1-AS1 SYNGAP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 SYNGAP1-AS Antisense RNAs 1987 2018-03-28 2018-03-28 112390310 ENSG00000274259 NR_174954 24007600 +HGNC:11498 SYNGR1 synaptogyrin 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 Synaptogyrins 1475 1999-03-19 2016-10-05 9145 ENSG00000100321 OTTHUMG00000030978 uc003axq.5 AJ002303 NM_004711 "CCDS13989|CCDS13990|CCDS13991" O43759 "9760194|10595519" MGI:1328323 RGD:3801 603925 HGNC:11498 "ENST00000328933.10|NM_004711.5" HGNC:11498 +HGNC:11499 SYNGR2 synaptogyrin 2 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 cellugyrin Synaptogyrins 1475 1999-03-19 2015-08-26 9144 ENSG00000108639 OTTHUMG00000177457 uc002juu.2 AJ002308 NM_001320523 "CCDS86641|CCDS11753" O43760 9760194 MGI:1328324 RGD:621334 603926 HGNC:11499 "ENST00000225777.8|NM_004710.7" +HGNC:11500 SYNGR2P1 synaptogyrin 2 pseudogene 1 pseudogene pseudogene Approved 15q13.2 15q13.2 SYNGR2P synaptogyrin 2 pseudogene 1999-03-19 2008-01-23 2008-01-23 2020-04-06 283698 ENSG00000260174 OTTHUMG00000175634 AJ002313 NG_003218 9760194 PGOHUM00000293163 HGNC:11500 +HGNC:33947 SYNGR2P2 synaptogyrin 2 pseudogene 2 pseudogene pseudogene Approved 9q21.2 09q21.2 2008-01-23 2008-01-23 138916 NG_001541 HGNC:33947 +HGNC:11501 SYNGR3 synaptogyrin 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Synaptogyrins 1475 1999-03-19 2014-11-19 9143 ENSG00000127561 OTTHUMG00000128711 uc002cod.3 AJ002309 NM_004209 CCDS10456 O43761 9760194 MGI:1341881 RGD:1311801 603927 HGNC:11501 "ENST00000248121.7|NM_004209.6" +HGNC:11502 SYNGR4 synaptogyrin 4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 Synaptogyrins 1475 1999-11-26 2016-10-05 23546 ENSG00000105467 OTTHUMG00000183214 uc002piz.4 AJ011733 NM_012451 CCDS12717 O95473 MGI:1928903 RGD:1307737 608373 HGNC:11502 "ENST00000344846.7|NM_012451.4" +HGNC:11503 SYNJ1 synaptojanin 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "INPP5G|PARK20" "phosphoinositide 5-phosphatase|synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1|inositol polyphosphate-5-phosphatase G" Phosphoinositide phosphatases 1079 1999-10-14 2021-05-26 8867 ENSG00000159082 OTTHUMG00000064926 uc002yqh.3 AF009040 NM_003895 "CCDS54483|CCDS33539|CCDS54484" O43426 "9428629|10773674|24609975|14704270" MGI:1354961 RGD:69434 604297 394615 objectId:1461 3.1.3.36 HGNC:11503 "ENST00000674351.1|NM_203446.3" HGNC:11503 +HGNC:11504 SYNJ2 synaptojanin 2 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 INPP5H "synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2|phosphoinositide 5-phosphatase|inositol polyphosphate-5-phosphatase H" Phosphoinositide phosphatases 1079 1999-10-14 2015-09-09 8871 ENSG00000078269 OTTHUMG00000015904 uc003qqx.3 AB002346 NM_003898 "CCDS87462|CCDS5254" O15056 23076136 MGI:1201671 RGD:69436 609410 objectId:1462 3.1.3.36 HGNC:11504 "ENST00000355585.9|NM_003898.4" +HGNC:41387 SYNJ2-IT1 SYNJ2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 SYNJ2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-31 2015-02-25 2015-02-25 100874300 ENSG00000233496 OTTHUMG00000015901 uc031sqq.1 NR_046796 SYNJ2-IT1 HGNC:41387 +HGNC:18955 SYNJ2BP synaptojanin 2 binding protein protein-coding gene gene with protein product Approved 14q24.2 14q24.2 Arip2 activin receptor interacting protein 5 PDZ domain containing 1220 2002-07-19 2013-05-10 55333 ENSG00000213463 OTTHUMG00000171240 uc001xmc.5 AK002133 NM_018373 CCDS9803 P57105 11882656 MGI:1344347 RGD:69400 609411 HGNC:18955 "ENST00000256366.6|NM_018373.3" +HGNC:48350 SYNJ2BP-COX16 SYNJ2BP-COX16 readthrough other readthrough Approved 14q24.2 14q24.2 2013-09-30 2013-09-30 100529257 ENSG00000258644 OTTHUMG00000171239 NM_001202547 HGNC:48350 +HGNC:24466 SYNM synemin protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "KIAA0353|SYN" "synemin alpha|synemin beta" DMN "desmuslin|synemin, intermediate filament protein" "A-kinase anchoring proteins|Intermediate filaments Type IV" "396|611" 2004-02-24 2008-09-19 2015-11-24 2021-04-13 23336 ENSG00000182253 OTTHUMG00000171887 uc032crv.2 AK026420 NM_145728 "CCDS73787|CCDS73786" O15061 "11737198|11454237" MGI:2661187 RGD:727872 LRG_415|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_415.xml 606087 HGNC:24466 HGNC:24466 "ENST00000336292.11|NM_145728.3" +HGNC:55421 SYNM-AS1 SYNM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.3 15q26.3 Antisense RNAs 1987 2021-01-07 2021-01-07 105371016 ENSG00000259475 XR_001751810 +HGNC:30672 SYNPO synaptopodin protein-coding gene gene with protein product Approved 5q33.1 05q33.1 KIAA1029 2004-01-12 2015-08-26 11346 ENSG00000171992 OTTHUMG00000130078 uc003lsp.4 AF499137 NM_007286 "CCDS4308|CCDS54938|CCDS54937" Q8N3V7 "9314539|10470851" MGI:1099446 RGD:620668 608155 HGNC:30672 "ENST00000307662.5|NM_007286.6" +HGNC:17732 SYNPO2 synaptopodin 2 protein-coding gene gene with protein product Approved 4q26 04q26 "MYOPODIN|SYISL" SYNPO2 intron sense-overlapping lncRNA PDZ domain containing 1220 2002-03-06 2021-11-17 171024 ENSG00000172403 OTTHUMG00000161165 uc010inb.3 AJ010482 NM_001128933 "CCDS34054|CCDS75186|CCDS47129|CCDS75185|CCDS47128" Q9UMS6 "11673475|17828378" MGI:2153070 RGD:1564779 HGNC:17732 "ENST00000307142.9|NM_133477.3" +HGNC:23532 SYNPO2L synaptopodin 2 like protein-coding gene gene with protein product Approved 10q22.2 10q22.2 FLJ12921 synaptopodin 2-like PDZ domain containing 1220 2003-11-21 2016-02-01 2016-10-05 79933 ENSG00000166317 OTTHUMG00000018471 uc001jut.6 AK022983 NM_024875 "CCDS7331|CCDS44438" Q9H987 MGI:1916010 RGD:1565434 HGNC:23532 "ENST00000394810.3|NM_001114133.3" +HGNC:55242 SYNPO2L-AS1 SYNPO2L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 Antisense RNAs 1987 2020-09-17 2020-09-17 105378360 ENSG00000271848 XR_946063 +HGNC:16507 SYNPR synaptoporin protein-coding gene gene with protein product Approved 3p14.2 03p14.2 "MGC26651|SPO" "Synaptophysins|MARVEL domain containing" "1476|1626" 2001-09-10 2016-10-05 132204 ENSG00000163630 OTTHUMG00000158699 uc003dlp.4 AF411860 NM_001130003 "CCDS46860|CCDS46859" Q8TBG9 "8034131|12974474" MGI:1919253 RGD:708366 HGNC:16507 "ENST00000478300.6|NM_001130003.2" +HGNC:40774 SYNPR-AS1 SYNPR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.2 03p14.2 SYNPR antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 100874016 ENSG00000241359 OTTHUMG00000158700 uc031sai.1 NR_046677 SYNPR-AS1 HGNC:40774 +HGNC:557 SYNRG synergin gamma protein-coding gene gene with protein product Approved 17q12 17q12 "SYNG|MGC104959" "gamma-synergin|adaptor-related protein complex 1 gamma subunit-binding protein 1" AP1GBP1 AP1 gamma subunit binding protein 1 2000-03-24 2009-07-20 2016-08-09 2020-09-17 11276 ENSG00000275066 OTTHUMG00000188473 uc032gic.3 AF169548 NM_007247 "CCDS54113|CCDS59284|CCDS59285|CCDS11321|CCDS11322|CCDS54114" Q9UMZ2 10477754 MGI:1354742 RGD:620684 607291 HGNC:557 "ENST00000612223.5|NM_007247.6" +HGNC:11506 SYP synaptophysin protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 MRX96 "Synaptophysins|MARVEL domain containing" "1476|1626" 1990-01-15 2021-05-26 6855 ENSG00000102003 OTTHUMG00000034557 uc004dmz.2 X06389 NM_003179 CCDS14321 P08247 "3120152|19377476" MGI:98467 RGD:3802 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYP 313475 226044 HGNC:11506 "ENST00000263233.9|NM_003179.3" HGNC:11506 +HGNC:40571 SYP-AS1 SYP antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 SYP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873921 ENSG00000237341 OTTHUMG00000024133 uc033edc.2 NR_046649 SYP-AS1 HGNC:40571 +HGNC:11507 SYPL1 synaptophysin like 1 protein-coding gene gene with protein product Approved 7q22.2 07q22.2 pantophysin SYPL "synaptophysin-like protein|synaptophysin-like 1" "Synaptophysins|MARVEL domain containing" "1476|1626" 1994-04-28 2005-05-24 2016-03-15 2017-05-18 6856 ENSG00000008282 OTTHUMG00000157587 uc003vdp.5 NM_001381910 "CCDS5736|CCDS47685" Q16563 MGI:108081 RGD:1359569 616665 HGNC:11507 "ENST00000455385.7|NM_182715.4" +HGNC:53546 SYPL1P1 synaptophysin like 1 pseudogene 1 pseudogene pseudogene Approved 3q25.2 03q25.2 2017-05-18 2017-05-18 100130011 ENSG00000243154 OTTHUMG00000159129 NG_022224 PGOHUM00000299233 HGNC:53546 +HGNC:53547 SYPL1P2 synaptophysin like 1 pseudogene 2 pseudogene pseudogene Approved 17q11.1 17q11.1 2017-05-18 2017-05-18 100132972 ENSG00000265683 OTTHUMG00000179154 NG_022448 PGOHUM00000294023 HGNC:53547 +HGNC:27638 SYPL2 synaptophysin like 2 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 Mg29 mitsugumin-29 synaptophysin-like 2 "Synaptophysins|MARVEL domain containing" "1476|1626" 2005-06-06 2016-03-15 2016-03-15 284612 ENSG00000143028 OTTHUMG00000010969 uc001dxp.4 AK131459 NM_001006603 CCDS41365 Q5VXT5 12975309 MGI:1328311 RGD:1309907 HGNC:27638 "ENST00000369872.4|NM_001040709.2" +HGNC:16162 SYS1 SYS1 golgi trafficking protein protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ453C12.4 C20orf169 "chromosome 20 open reading frame 169|SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)|Sys1 golgi trafficking protein" 2001-07-17 2006-11-06 2019-01-21 2019-01-21 90196 ENSG00000204070 OTTHUMG00000032579 uc002xnv.4 AL021578 NM_033542 "CCDS13351|CCDS56192" Q8N2H4 15077113 MGI:1913710 RGD:1583224 612979 HGNC:16162 "ENST00000243918.10|NM_033542.4" +HGNC:33535 SYS1-DBNDD2 SYS1-DBNDD2 readthrough (NMD candidate) other readthrough Approved 20q13.12 20q13.12 SYS1-DBNDD2 readthrough (non-protein coding) 2011-05-31 2013-05-09 2014-11-19 767557 ENSG00000254806 OTTHUMG00000166214 uc061xhp.1 BC023562 NR_003189 HGNC:33535 +HGNC:11509 SYT1 synaptotagmin 1 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 P65 "SYT|SVP65" synaptotagmin I "Synaptotagmins|MicroRNA protein coding host genes" "765|1691" 1990-03-14 2015-11-20 2021-05-26 6857 ENSG00000067715 OTTHUMG00000134326 uc001syt.4 NM_005639 "CCDS9017|CCDS76582" P21579 1840599 MGI:99667 RGD:3803 185605 471178 HGNC:11509 "ENST00000261205.9|NM_005639.3" HGNC:11509 +HGNC:11510 SYT2 synaptotagmin 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 synaptotagmin II Synaptotagmins 765 1995-09-27 2015-11-20 2021-05-26 127833 ENSG00000143858 OTTHUMG00000041388 uc010pqb.3 AK090672 NM_177402 CCDS1427 Q8N9I0 7749232 MGI:99666 RGD:3804 600104 444681 HGNC:11510 "ENST00000367268.5|NM_177402.5" HGNC:11510 +HGNC:11511 SYT3 synaptotagmin 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 synaptotagmin III Synaptotagmins 765 1995-09-27 2015-11-20 2015-11-20 84258 ENSG00000213023 OTTHUMG00000183064 uc061brv.1 AL136594 NM_032298 CCDS12798 Q9BQG1 7749232 MGI:99665 RGD:3805 600327 HGNC:11511 "ENST00000600079.6|NM_001160329.2" +HGNC:11512 SYT4 synaptotagmin 4 protein-coding gene gene with protein product Approved 18q12.3 18q12.3 "KIAA1342|HsT1192" synaptotagmin IV Synaptotagmins 765 1995-09-27 2015-11-20 2015-11-20 6860 ENSG00000132872 OTTHUMG00000132610 uc002law.4 BC036538 NM_020783 CCDS11922 Q9H2B2 8058779 MGI:101759 RGD:68397 600103 HGNC:11512 "ENST00000255224.8|NM_020783.4" +HGNC:11513 SYT5 synaptotagmin 5 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 synaptotagmin V Synaptotagmins 765 1995-09-27 2015-11-20 2015-11-20 6861 ENSG00000129990 OTTHUMG00000180669 uc002qjn.2 X96783 NM_003180 "CCDS74455|CCDS12919" O00445 9177789 MGI:1926368 RGD:3806 600782 HGNC:11513 "ENST00000354308.8|NM_003180.3" +HGNC:18638 SYT6 synaptotagmin 6 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 synaptotagmin VI Synaptotagmins 765 2002-05-14 2015-11-20 2016-10-05 148281 ENSG00000134207 OTTHUMG00000011755 uc057jph.1 NM_205848 CCDS871 Q5T7P8 11543631 MGI:1859544 RGD:62012 607718 HGNC:18638 "ENST00000610222.3|NM_001253772.2" +HGNC:11514 SYT7 synaptotagmin 7 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "IPCA-7|SYT-VII|MGC150517" PCANAP7 "prostate cancer associated protein 7|synaptotagmin VII" Synaptotagmins 765 1999-07-14 2015-11-20 2015-11-20 9066 ENSG00000011347 OTTHUMG00000168199 uc001nrv.4 AF038535 NM_004200 "CCDS58139|CCDS73298|CCDS31577" O43581 9615227 MGI:1859545 RGD:62013 604146 HGNC:11514 "ENST00000539008.6|NM_001365809.2" +HGNC:19264 SYT8 synaptotagmin 8 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 DKFZp434K0322 synaptotagmin VIII Synaptotagmins 765 2002-11-12 2015-11-20 2015-11-20 90019 ENSG00000149043 OTTHUMG00000009026 uc001lue.2 AL137708 NM_001290332 CCDS7726 Q8NBV8 7791877 MGI:1859867 RGD:68399 607719 HGNC:19264 "ENST00000341958.4|NM_001394072.1" +HGNC:19265 SYT9 synaptotagmin 9 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 synaptotagmin IX Synaptotagmins 765 2004-10-20 2015-11-20 2015-11-20 143425 ENSG00000170743 OTTHUMG00000165499 uc001mfe.4 AK055003 NM_175733 CCDS7778 Q86SS6 11543631 MGI:1926373 RGD:621169 613528 HGNC:19265 "ENST00000318881.11|NM_175733.4" +HGNC:56173 SYT9-AS1 SYT9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2022-01-14 2022-01-14 100506258 ENSG00000251364 NR_103855 +HGNC:19266 SYT10 synaptotagmin 10 protein-coding gene gene with protein product Approved 12p11.1 12p11.1 synaptotagmin X Synaptotagmins 765 2004-01-12 2015-11-20 2016-10-05 341359 ENSG00000110975 OTTHUMG00000169269 uc001rll.2 AY198413 NM_198992 CCDS8732 Q6XYQ8 MGI:1859546 RGD:62041 HGNC:19266 "ENST00000228567.7|NM_198992.4" +HGNC:19239 SYT11 synaptotagmin 11 protein-coding gene gene with protein product Approved 1q22 01q22 "KIAA0080|MGC10881|MGC17226|DKFZp781D015" synaptotagmin XI Synaptotagmins 765 2002-09-20 2015-11-20 2015-11-20 23208 ENSG00000132718 OTTHUMG00000014105 uc001fmg.4 D38522 NM_152280 CCDS1122 Q9BT88 11543631 MGI:1859547 RGD:62042 608741 HGNC:19239 "ENST00000368324.5|NM_152280.5" +HGNC:18381 SYT12 synaptotagmin 12 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 SRG1 synaptotagmin XII "Synaptotagmins|MicroRNA protein coding host genes" "765|1691" 2002-03-17 2015-11-20 2015-11-20 91683 ENSG00000173227 OTTHUMG00000167101 uc058ech.1 AK024280 NM_177963 CCDS8154 Q8IV01 8987811 MGI:2159601 RGD:621876 606436 HGNC:18381 "ENST00000527043.6|NM_177963.4" +HGNC:14962 SYT13 synaptotagmin 13 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 KIAA1427 synaptotagmin XIII Synaptotagmins 765 2001-03-26 2015-11-20 2015-11-20 57586 ENSG00000019505 OTTHUMG00000166504 uc001myq.3 AB037848 NM_020826 CCDS31470 Q7L8C5 11171101 MGI:1933945 RGD:621877 607716 HGNC:14962 "ENST00000020926.8|NM_020826.3" +HGNC:23143 SYT14 synaptotagmin 14 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "sytXIV|FLJ34198" synaptotagmin XIV Synaptotagmins 765 2003-09-17 2015-11-20 2021-12-05 255928 ENSG00000143469 OTTHUMG00000036652 uc009xcv.5 AK091517 NM_153262 "CCDS31014|CCDS53469|CCDS53470|CCDS58058" Q8NB59 "12801916|17304550" MGI:2444490 RGD:1592654 610949 284278 HGNC:23143 HGNC:23143 +HGNC:33429 SYT14P1 synaptotagmin 14 pseudogene 1 pseudogene pseudogene Approved 4q13.2 04q13.2 "SYTDEP|CHR415SYT" SYT14L "synaptotagmin XIV-like|synaptotagmin XIV pseudogene 1" 2007-03-29 2014-07-02 2015-11-20 2021-10-07 401135 ENSG00000215127 OTTHUMG00000157371 AJ303368 NR_027094 Q58G82 16376304 610892 PGOHUM00000250714 HGNC:33429 +HGNC:17167 SYT15 synaptotagmin 15 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 CHR10SYT synaptotagmin XV Synaptotagmins 765 2003-06-05 2015-11-20 2018-08-02 83849 ENSG00000204176 OTTHUMG00000018103 uc001jea.4 AJ303363 NM_031912 "CCDS73104|CCDS73103" Q9BQS2 11543631 MGI:2442166 RGD:727964 608081 HGNC:17167 "ENST00000374321.9|NM_031912.5" +HGNC:56167 SYT15-AS1 SYT15 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.22 10q11.22 Antisense RNAs 1987 2022-01-14 2022-01-14 101927699 ENSG00000231187 NR_155739 +HGNC:51487 SYT15B synaptotagmin 15B protein-coding gene gene with protein product Approved 10q11.22 10q11.22 2022-01-14 2022-01-14 102724488 ENSG00000277758 OTTHUMG00000189287 NM_001370182 +HGNC:23142 SYT16 synaptotagmin 16 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 "yt14r|CHR14SYT|Strep14" "synaptotagmin XIV-related|chr14 synaptotagmin" SYT14L "synaptotagmin XIV-like|synaptotagmin XVI" Synaptotagmins 765 2003-09-18 2005-07-15 2015-11-20 2022-03-08 83851 ENSG00000139973 OTTHUMG00000171106 uc001xfu.2 BC040924 NM_031914 CCDS45121 Q17RD7 11543631 MGI:2673872 RGD:1564654 610950 HGNC:23142 "ENST00000683842.1|NM_001367656.1" +HGNC:24119 SYT17 synaptotagmin 17 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 Syt-17 B/K protein synaptotagmin XVII Synaptotagmins 765 2005-07-15 2015-11-20 2019-08-21 51760 ENSG00000103528 OTTHUMG00000131461 uc002dfw.4 NM_016524 "CCDS76835|CCDS10575|CCDS81952" Q9BSW7 "10493829|31387992" MGI:104966 RGD:708576 HGNC:24119 "ENST00000355377.7|NM_016524.4" +HGNC:15584 SYTL1 synaptotagmin like 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SLP1|JFC1|FLJ14996|exophilin-7" synaptotagmin-like 1 Synaptotagmin like tandem C2 proteins 822 2004-05-10 2015-11-11 2016-10-05 84958 ENSG00000142765 OTTHUMG00000005770 uc001bnv.3 AK027902 NM_032872 "CCDS298|CCDS53286" Q8IYJ3 12137562 MGI:1933365 RGD:1310715 608042 HGNC:15584 "ENST00000616558.5|NM_001193308.2" +HGNC:15585 SYTL2 synaptotagmin like 2 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "FLJ20163|FLJ21219|KIAA1597|exophilin-4|CHR11SYT|SLP2|SGA72M|MGC102768|PPP1R151" "chromosome 11 synaptotagmin|breast cancer-associated antigen SGA-72M|protein phosphatase 1, regulatory subunit 151" "Protein phosphatase 1 regulatory subunits|Synaptotagmin like tandem C2 proteins" "694|822" 2001-06-25 2015-11-18 2015-11-18 54843 ENSG00000137501 OTTHUMG00000166977 uc010rti.4 AJ303364 NM_206927 "CCDS53689|CCDS53687|CCDS31652|CCDS76461|CCDS41698|CCDS31649|CCDS53688" Q9HCH5 10997877 MGI:1933366 RGD:1307647 612880 HGNC:15585 "ENST00000359152.10|NM_206927.4" +HGNC:15587 SYTL3 synaptotagmin like 3 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "SLP3|exophilin-6" Synaptotagmin like tandem C2 proteins 822 2001-07-31 2015-11-18 2015-11-18 94120 ENSG00000164674 OTTHUMG00000015916 uc003qrs.3 AK055750 NM_001009991 "CCDS34563|CCDS56458" Q4VX76 11773082 MGI:1933367 RGD:1561992 HGNC:15587 "ENST00000611299.5|NM_001242394.2" +HGNC:15588 SYTL4 synaptotagmin like 4 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "granuphilin-a|exophilin-2" Synaptotagmin like tandem C2 proteins 822 2001-07-31 2015-11-18 2020-04-02 94121 ENSG00000102362 OTTHUMG00000022004 uc010nnc.5 NM_080737 CCDS14472 Q96C24 MGI:1351606 RGD:620204 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYTL4 300723 HGNC:15588 "ENST00000372989.6|NM_001370165.1" HGNC:15588 +HGNC:15589 SYTL5 synaptotagmin like 5 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 exophilin 9 synaptotagmin-like 5 Synaptotagmin like tandem C2 proteins 822 2001-07-31 2015-11-18 2020-04-02 94122 ENSG00000147041 OTTHUMG00000033176 uc004ddx.4 NM_138780 "CCDS14244|CCDS55399" Q8TDW5 MGI:2668451 RGD:631342 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SYTL5 HGNC:15589 "ENST00000297875.7|NM_138780.3" +HGNC:20738 SYVN1 synoviolin 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HRD1|DER3" HMG-coA reductase degradation 1 homolog (S. cerevisiae) synovial apoptosis inhibitor 1, synoviolin "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2004-07-28 2015-11-20 2016-06-21 84447 ENSG00000162298 OTTHUMG00000165607 uc001odc.3 AB085847 NM_032431 "CCDS8097|CCDS31605" Q86TM6 12975321 MGI:1921376 RGD:1310488 608046 HGNC:20738 "ENST00000377190.8|NM_172230.3" HGNC:20738 +HGNC:30232 SZRD1 SUZ RNA binding domain containing 1 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 DKFZp566C0424 C1orf144 chromosome 1 open reading frame 144 2005-07-08 2012-07-23 2012-07-23 2014-11-19 26099 ENSG00000055070 OTTHUMG00000002217 uc001aym.6 BC010631 NM_015609 "CCDS44065|CCDS60000" Q7Z422 12761501 MGI:1098672 RGD:1560286 HGNC:30232 "ENST00000401088.9|NM_001114600.3" +HGNC:29040 SZT2 SZT2 subunit of KICSTOR complex protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FLJ10387|SZT2B|RP11-506B15.1|FLJ34502|SZT2A|KICS1" "seizure threshold 2 homolog A (mouse)|seizure threshold 2 homolog B (mouse)" "C1orf84|KIAA0467" "chromosome 1 open reading frame 84|KIAA0467|seizure threshold 2 homolog (mouse)|SZT2, KICSTOR complex subunit" "KICSTOR complex|MicroRNA protein coding host genes" "1393|1691" 2005-05-17 2011-06-10 2019-02-07 2021-05-26 23334 ENSG00000198198 OTTHUMG00000007423 uc001cjk.4 AB007936 NM_015284 CCDS30694 Q5T011 "9455484|28199306" MGI:3033336 RGD:1308616 615463 376495 HGNC:29040 "ENST00000634258.3|NM_001365999.1" HGNC:29040 +HGNC:41225 SZT2-AS1 SZT2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 SZT2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-10 2012-08-15 2014-11-19 100873952 ENSG00000229372 OTTHUMG00000007428 uc057fnr.1 NR_046744 SZT2-AS1 HGNC:41225 +HGNC:17734 TAAR1 trace amine associated receptor 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "TAR1|TA1" TRAR1 trace amine receptor 1 Trace amine receptors 188 2004-04-02 2005-02-24 2005-02-23 2016-10-05 134864 ENSG00000146399 OTTHUMG00000015583 uc003qdm.1 AY180374 NM_138327 CCDS5158 Q96RJ0 "11459929|15718104" MGI:2148258 RGD:621621 609333 objectId:364 HGNC:17734 "ENST00000275216.3|NM_138327.4" +HGNC:4514 TAAR2 trace amine associated receptor 2 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 GPR58 "G protein-coupled receptor 58|trace amine associated receptor 2 (gene/pseudogene)" Trace amine receptors 188 1999-03-09 2005-02-24 2020-05-01 2020-05-01 9287 ENSG00000146378 OTTHUMG00000015585 uc010kfr.2 AF112460 NM_014626 "CCDS5157|CCDS34541" Q9P1P5 "10684976|15718104" MGI:2685071 RGD:1311240 604849 objectId:167 HGNC:4514 "ENST00000367931.1|NM_001033080.1" +HGNC:4513 TAAR3P trace amine associated receptor 3, pseudogene pseudogene pseudogene Approved 6q23.2 06q23.2 "GPR57|TAAR3" "G protein-coupled receptor 57|trace amine associated receptor 3|trace amine associated receptor 3 (gene/pseudogene)" Trace amine receptors 188 1999-03-09 2017-02-01 2017-02-01 2017-02-01 9288 ENSG00000179073 OTTHUMG00000015584 AF112461 NR_028511 Q9P1P4 "10684976|14559210|15718104|15891052|19325074" MGI:3527427 RGD:1359566 HGNC:4513 +HGNC:31924 TAAR4P trace amine associated receptor 4, pseudogene pseudogene pseudogene Approved 6q23.2 06q23.2 Trace amine receptors 188 2005-02-23 2009-12-08 2020-08-14 503612 ENSG00000237449 OTTHUMG00000015582 U88828 NG_004855.2 15718104 MGI:2685072 HGNC:31924 +HGNC:30236 TAAR5 trace amine associated receptor 5 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 PNR Trace amine receptors 188 2005-02-23 2015-08-26 9038 ENSG00000135569 OTTHUMG00000015581 uc003qdk.3 AF021818 NM_003967 CCDS5156 O14804 "9464258|15718104" MGI:2685073 RGD:1359185 607405 objectId:170 HGNC:30236 "ENST00000258034.4|NM_003967.3" +HGNC:20978 TAAR6 trace amine associated receptor 6 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 TA4 TRAR4 trace amine receptor 4 Trace amine receptors 188 2004-04-02 2005-02-24 2005-02-23 2016-10-05 319100 ENSG00000146383 OTTHUMG00000015579 uc011eck.2 AF380192 NM_175067 CCDS5155 Q96RI8 "11459929|15718104" MGI:2685074 RGD:631384 608923 objectId:171 HGNC:20978 "ENST00000275198.1|NM_175067.1" +HGNC:31925 TAAR7P trace amine associated receptor 7, pseudogene pseudogene pseudogene Approved 6q23.2 06q23.2 Trace amine receptors 188 2005-02-23 2009-12-08 2020-08-14 503611 ENSG00000235998 OTTHUMG00000154716 AY803193 NG_004854.1 15718104 "MGI:2685075|MGI:3527438|MGI:3527440|MGI:3527443|MGI:3527445|MGI:3527447" HGNC:31925 +HGNC:14964 TAAR8 trace amine associated receptor 8 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "TA5|TAR5" "GPR102|TRAR5" trace amine receptor 5 Trace amine receptors 188 2001-04-23 2005-02-24 2005-02-23 2014-11-19 83551 ENSG00000146385 OTTHUMG00000015586 uc011ecj.2 AF380193 NM_053278 CCDS5154 Q969N4 "11574155|15718104" "MGI:2685076|MGI:2685995|MGI:3527452" RGD:631391 606927 objectId:172 HGNC:14964 +HGNC:20977 TAAR9 trace amine associated receptor 9 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "TA3|TAR3" TRAR3 "trace amine receptor 3|trace amine associated receptor 9 (gene/pseudogene)" Trace amine receptors 188 2004-04-02 2005-02-24 2020-05-01 2020-05-01 134860 ENSG00000237110 OTTHUMG00000015578 uc032xme.2 AF380189 NM_175057 CCDS75520 Q96RI9 15718104 MGI:3527454 RGD:631383 608282 objectId:173 HGNC:20977 +HGNC:18157 TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "TAK1-binding protein 1|mitogen-activated protein kinase kinase kinase 7 interacting protein 1" MAP3K7IP1 "mitogen-activated protein kinase kinase kinase 7 interacting protein 1|TGF-beta activated kinase 1/MAP3K7 binding protein 1" 2002-02-22 2010-02-05 2016-07-20 2016-07-20 10454 ENSG00000100324 OTTHUMG00000151102 uc003axt.4 U49928 NM_153497 "CCDS13993|CCDS13992" Q15750 "8638164|10187861" MGI:1913763 RGD:1306216 602615 HGNC:18157 "ENST00000216160.11|NM_006116.3" +HGNC:17075 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 KIAA0733 TAK1 binding protein 2 MAP3K7IP2 "mitogen-activated protein kinase kinase kinase 7 interacting protein 2|TGF-beta activated kinase 1/MAP3K7 binding protein 2" Zinc fingers RANBP2-type 89 2002-02-22 2010-02-05 2018-02-12 2021-05-26 23118 ENSG00000055208 OTTHUMG00000015783 uc063sdy.1 AF241230 NM_001292034 CCDS5214 Q9NYJ8 "9872452|10882101" MGI:1915902 RGD:1309527 605101 471180 HGNC:17075 "ENST00000637181.2|NM_001292034.3" HGNC:17075 +HGNC:53508 TAB2-AS1 TAB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.1 06q25.1 Antisense RNAs 1987 2017-05-12 2017-05-12 105378049 ENSG00000225924 OTTHUMG00000191683 NR_149096 HGNC:53508 +HGNC:30681 TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 TAK1 binding protein 3 MAP3K7IP3 "mitogen-activated protein kinase kinase kinase 7 interacting protein 3|TGF-beta activated kinase 1/MAP3K7 binding protein 3|TGF-beta activated kinase 1 and MAP3K7 binding protein 3" Zinc fingers RANBP2-type 89 2006-06-26 2010-02-05 2018-02-12 2020-04-02 257397 ENSG00000157625 OTTHUMG00000021329 uc004dck.3 AY331591 NM_152787 CCDS14226 Q8N5C8 "14633987|14670075" MGI:1913974 RGD:1594527 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/MAP3K7IP3 300480 HGNC:30681 "ENST00000288422.4|NM_152787.5" +HGNC:20176 TAB3-AS1 TAB3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp21.2 Xp21.2 OTTHUMG00000021331 CXorf29 "chromosome X open reading frame 29|TAB3 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2006-06-30 2011-04-28 2012-08-15 2014-11-19 727682 ENSG00000231542 OTTHUMG00000021331 uc064ylp.1 NR_145449 TAB3-AS1 HGNC:20176 +HGNC:40013 TAB3-AS2 TAB3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved Xp21.2 Xp21.2 TAB3 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-04-28 2012-08-15 2014-11-19 100873926 ENSG00000235512 OTTHUMG00000021330 uc064ylr.1 BI002962 TAB3-AS2 +HGNC:37723 TAB3P1 TGF-beta activated kinase 1/MAP3K7 binding protein 3 pseudogene 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 2010-02-05 2014-11-19 643199 ENSG00000235462 OTTHUMG00000036321 NG_005581 HGNC:37723 +HGNC:11517 TAC1 tachykinin precursor 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 NPK "substance K|substance P|neurokinin 1|neurokinin 2|neuromedin L|neurokinin alpha|neuropeptide K|neuropeptide gamma|preprotachykinin|protachykinin" "TAC2|NKNA" tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma) Tachykinin precursors 1901 1991-12-11 2015-11-26 2016-10-05 6863 ENSG00000006128 OTTHUMG00000154069 uc003uop.5 M68907 NM_003182 "CCDS5650|CCDS5651|CCDS5649" P20366 1708336 MGI:98474 RGD:3807 162320 ligandId:2091 HGNC:11517 "ENST00000319273.10|NM_003182.3" +HGNC:11521 TAC3 tachykinin precursor 3 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "ZNEUROK1|NKB|NK3|LncZBTB39-1:2|LncZBTB39" preprotachykinin-B NKNB "neuromedin K|neurokinin beta|tachykinin 3" Tachykinin precursors 1901 1986-01-01 2019-07-04 2021-05-26 6866 ENSG00000166863 OTTHUMG00000156958 uc058prt.1 AF186112 NM_001006667 "CCDS53803|CCDS8928" Q9UHF0 "3479225|10866201" MGI:98476 RGD:3809 162330 178814 ligandId:2090 HGNC:11521 "ENST00000458521.7|NM_013251.4" HGNC:11521 +HGNC:16641 TAC4 tachykinin precursor 4 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "HK-1|Pptc|PPT-C" hemokinin tachykinin 4 Tachykinin precursors 1901 2004-10-20 2019-07-04 2019-07-04 255061 ENSG00000176358 OTTHUMG00000161830 uc002ipo.1 AF521560 NM_170685 "CCDS45727|CCDS42358|CCDS42359|CCDS42357|CCDS42360" Q86UU9 "11062498|12383518" MGI:1931130 RGD:628842 607833 HGNC:16641 "ENST00000436235.6|NM_001077506.2" +HGNC:11522 TACC1 transforming acidic coiled-coil containing protein 1 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 transforming, acidic coiled-coil containing protein 1 TACC family 1943 1998-07-10 2016-02-01 2019-08-20 6867 ENSG00000147526 OTTHUMG00000164018 uc010lwp.3 AF049910 NM_006283 "CCDS83284|CCDS87602|CCDS87601|CCDS47845|CCDS55224|CCDS6109" O75410 10435627 MGI:2443510 RGD:1303120 605301 311455 HGNC:11522 "ENST00000317827.9|NM_006283.3" +HGNC:44974 TACC1P1 transforming acidic coiled-coil containing protein 1 pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 transforming, acidic coiled-coil containing protein 1 pseudogene 1 2012-12-20 2016-02-01 2016-02-01 219752 ENSG00000224920 OTTHUMG00000017974 NG_022170 PGOHUM00000238728 HGNC:44974 +HGNC:11523 TACC2 transforming acidic coiled-coil containing protein 2 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 "AZU-1|ECTACC" transforming, acidic coiled-coil containing protein 2 TACC family 1943 1998-10-12 2016-02-01 2019-08-20 10579 ENSG00000138162 OTTHUMG00000019181 uc001lfv.4 AF095791 NM_001291876 "CCDS7626|CCDS7628|CCDS7627|CCDS7625|CCDS76352|CCDS76351|CCDS76349|CCDS76348" O95359 "11161455|14767476" MGI:1928899 RGD:1303004 605302 HGNC:11523 "ENST00000369005.6|NM_206862.4" +HGNC:11524 TACC3 transforming acidic coiled-coil containing protein 3 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "ERIC1|ERIC-1|maskin|Tacc4" transforming, acidic coiled-coil containing protein 3 TACC family 1943 1998-10-12 2016-02-01 2021-04-13 10460 ENSG00000013810 OTTHUMG00000089535 uc003gdo.4 AF093543 NM_006342 CCDS3352 Q9Y6A5 "10366448|17675670" MGI:1341163 RGD:1302948 LRG_1367|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1367.xml 605303 311452 HGNC:11524 "ENST00000313288.9|NM_006342.3" +HGNC:24316 TACO1 translational activator of cytochrome c oxidase I protein-coding gene gene with protein product Approved 17q23.3 17q23.3 translational activator of COX I CCDC44 "coiled-coil domain containing 44|translational activator of mitochondrially encoded cytochrome c oxidase I" Mitochondrial respiratory chain complex assembly factors 645 2005-12-16 2009-06-26 2016-04-11 2021-05-26 51204 ENSG00000136463 OTTHUMG00000178904 uc002jbd.3 BC005049 NM_016360 CCDS11640 Q9BSH4 19503089 MGI:1917457 RGD:1306784 612958 201567 HGNC:24316 "ENST00000258975.7|NM_016360.4" HGNC:24316 +HGNC:11526 TACR1 tachykinin receptor 1 protein-coding gene gene with protein product Approved 2p12 02p12 "SPR|NK1R|NKIR" "substance-P receptor|neurokinin receptor 1" TAC1R Tachykinin receptors 258 1991-12-11 2021-04-21 6869 ENSG00000115353 OTTHUMG00000129973 uc002sng.3 M76675 NM_001058 "CCDS1958|CCDS46345" P25103 1657150 MGI:98475 RGD:3811 162323 objectId:360 HGNC:11526 "ENST00000305249.10|NM_001058.4" +HGNC:11527 TACR2 tachykinin receptor 2 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "SKR|NK2R" "neurokinin B receptor|neurokinin A receptor|substance-K receptor" "TAC2R|NKNAR" Tachykinin receptors 258 1991-03-04 2021-04-21 6865 ENSG00000075073 OTTHUMG00000018377 uc001jpn.3 NM_001057 CCDS7293 P21452 MGI:98477 RGD:3812 162321 objectId:361 HGNC:11527 "ENST00000373306.5|NM_001057.3" +HGNC:11528 TACR3 tachykinin receptor 3 protein-coding gene gene with protein product Approved 4q24 04q24 "NK3R|NKR|TAC3R" "neurokinin beta receptor|neuromedin-K receptor|neurokinin B receptor|NK3 receptor" Tachykinin receptors 258 1997-11-28 2021-05-26 6870 ENSG00000169836 OTTHUMG00000131124 uc003hxe.2 M89473 NM_001059 CCDS3664 P29371 "1374246|19079066" MGI:892968 RGD:3810 162332 178819 objectId:362 HGNC:11528 "ENST00000304883.3|NM_001059.3" HGNC:11528 +HGNC:55593 TACR3-AS1 TACR3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 RP11-297P16.3 Antisense RNAs 1987 2021-04-28 2021-04-28 121233924 ENSG00000251577 33893613 +HGNC:11530 TACSTD2 tumor associated calcium signal transducer 2 protein-coding gene gene with protein product Approved 1p32.1 01p32.1 "TROP2|GA733-1|EGP-1" "epithelial glycoprotein-1|trophoblast cell surface antigen 2" M1S1 membrane component chromosome 1 surface marker 1 1989-11-20 2017-02-28 2019-07-02 4070 ENSG00000184292 OTTHUMG00000010067 uc001cyz.5 X77753 NM_002353 CCDS609 P09758 "8382772|11306819" MGI:1861606 RGD:1359498 137290 119910 objectId:2837 HGNC:11530 "ENST00000371225.4|NM_002353.3" HGNC:11530 +HGNC:30631 TADA1 transcriptional adaptor 1 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 "STAF42|ADA1|hADA1|HFI1" TADA1L "transcriptional adaptor 1 (HFI1 homolog, yeast)-like|transcriptional adaptor 1 (HFI1 homolog, yeast)" SAGA complex 1059 2005-06-10 2009-10-02 2009-10-02 2014-11-19 117143 ENSG00000152382 OTTHUMG00000034321 uc001gdw.4 BC015401 NM_053053 CCDS1255 Q96BN2 11564863 MGI:1196415 RGD:1306774 612763 HGNC:30631 "ENST00000367874.5|NM_053053.4" +HGNC:11531 TADA2A transcriptional adaptor 2A protein-coding gene gene with protein product Approved 17q12 17q12 "ADA2|hADA2|ADA2A" TADA2L transcriptional adaptor 2 (ADA2 homolog, yeast)-like "Myb/SANT domain containing|ATAC complex" "532|1058" 1996-12-17 2009-10-02 2009-10-02 2016-10-05 6871 ENSG00000276234 OTTHUMG00000188469 uc002hnt.4 AK022767 NM_001488 "CCDS45656|CCDS11319" O75478 8552087 MGI:2144471 RGD:1309959 602276 471182 HGNC:11531 "ENST00000615182.5|NM_001166105.3" +HGNC:30781 TADA2B transcriptional adaptor 2B protein-coding gene gene with protein product Approved 4p16.1 04p16.1 MGC21874 "Zinc fingers ZZ-type|Myb/SANT domain containing|SAGA complex" "91|532|1059" 2009-10-02 2015-08-26 93624 ENSG00000173011 OTTHUMG00000159983 uc003gjw.5 AK026299 NM_152293 CCDS47007 Q86TJ2 "12972612|18936164" MGI:3035274 RGD:1561605 608790 HGNC:30781 "ENST00000310074.8|NM_152293.3" +HGNC:19422 TADA3 transcriptional adaptor 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "FLJ20221|FLJ21329|ADA3|hADA3|NGG1" alteration/deficiency in activation 3 TADA3L transcriptional adaptor 3 (NGG1 homolog, yeast)-like "ATAC complex|SAGA complex" "1058|1059" 2003-02-13 2009-10-02 2009-10-02 2016-04-18 10474 ENSG00000171148 OTTHUMG00000128440 uc003bsx.3 AF069733 NM_001278270 "CCDS2583|CCDS2584" O75528 "9674425|11707411" MGI:1915724 RGD:1564009 602945 HGNC:19422 "ENST00000301964.7|NM_006354.5" +HGNC:11535 TAF1 TATA-box binding protein associated factor 1 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "NSCL2|TAFII250|KAT4|DYT3/TAF1" "TAF2A|BA2R|CCG1|CCGS|DYT3" "TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD|dystonia 3 (with Parkinsonism)|TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa" "Lysine acetyltransferases|Bromodomain containing|General transcription factor IID complex subunits " "486|1232|1878" 1986-01-01 2001-12-07 2015-11-20 2021-05-26 6872 ENSG00000147133 OTTHUMG00000022723 uc004dzt.6 NM_004606 "CCDS14412|CCDS35325|CCDS69783" P21675 "3556424|12928496|17952504" MGI:1336878 RGD:1562050 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TAF1 313650 139199 objectId:2231 HGNC:11535 "ENST00000423759.6|NM_004606.5" HGNC:11535 +HGNC:11532 TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A protein-coding gene gene with protein product Approved 1q41 01q41 "TAFI48|SL1" "TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD|TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa" 1999-01-18 2016-03-01 2019-06-04 9015 ENSG00000143498 OTTHUMG00000037544 uc009xdz.2 L39060 NM_005681 "CCDS1531|CCDS1532" Q15573 7801123 MGI:109578 RGD:1305698 604903 HGNC:11532 "ENST00000352967.9|NM_005681.4" HGNC:11532 +HGNC:40573 TAF1A-AS1 TAF1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2014-05-21 2014-11-19 100506161 ENSG00000225265 OTTHUMG00000037542 NR_110613 TAF1A-AS1 HGNC:40573 +HGNC:11533 TAF1B TATA-box binding protein associated factor, RNA polymerase I subunit B protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "TAFI63|SL1|RAF1B|RAFI63" "TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD|TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa" 1999-01-18 2016-03-01 2016-10-05 9014 ENSG00000115750 OTTHUMG00000151673 uc002qzz.4 L39061 NM_005680 CCDS33143 Q53T94 7801123 MGI:109577 RGD:1596058 604904 HGNC:11533 "ENST00000263663.10|NM_005680.3" +HGNC:11534 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "TAFI110|TAFI95|SL1|MGC:39976" "TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD|TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa" 1999-01-18 2016-03-01 2020-04-01 9013 ENSG00000103168 OTTHUMG00000176665 uc002fhn.4 L39059 NM_139353 "CCDS58488|CCDS32496|CCDS45535|CCDS58489" Q15572 7801123 MGI:109576 RGD:1305658 604905 HGNC:11534 "ENST00000566732.6|NM_001243156.2" HGNC:11534 +HGNC:28759 TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D protein-coding gene gene with protein product Approved 11q21 11q21 "MGC5306|TAF(I)41" JOSD3 "Josephin domain containing 3|TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa" Small nucleolar RNA protein coding host genes 1835 2005-11-10 2008-09-30 2016-03-01 2016-03-01 79101 ENSG00000166012 OTTHUMG00000167451 uc001ped.5 NM_024116 CCDS8293 Q9H5J8 "15520167|17318177" MGI:1922566 RGD:1309627 612823 HGNC:28759 "ENST00000448108.7|NM_024116.4" +HGNC:18056 TAF1L TATA-box binding protein associated factor 1 like protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa|TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like" Bromodomain containing 1232 2002-11-13 2015-11-20 2016-10-05 138474 ENSG00000122728 OTTHUMG00000019747 uc003zrg.1 AF390562 NM_153809 CCDS35003 Q8IZX4 12217962 MGI:1336878 607798 objectId:2232 HGNC:18056 "ENST00000242310.4|NM_153809.2" +HGNC:11536 TAF2 TATA-box binding protein associated factor 2 protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "TAFII150|CIF150" TAF2B "TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD|TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa" "M1 metallopeptidases|General transcription factor IID complex subunits " "1437|1878" 1995-07-07 2001-12-07 2015-11-20 2021-05-26 6873 ENSG00000064313 OTTHUMG00000165009 uc003you.4 AF040701 NM_003184 CCDS34937 Q6P1X5 "9774672|9418870" MGI:2443028 RGD:621487 604912 401879 M01.972 HGNC:11536 "ENST00000378164.7|NM_003184.4" HGNC:11536 +HGNC:17303 TAF3 TATA-box binding protein associated factor 3 protein-coding gene gene with protein product Approved 10p14 10p14 "TAF140|TAFII140" "TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD|TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa" "PHD finger proteins|Armadillo like helical domain containing|General transcription factor IID complex subunits " "88|1492|1878" 2001-12-03 2015-11-20 2016-10-05 83860 ENSG00000165632 OTTHUMG00000017643 uc010qbd.4 AJ292190 NM_031923 CCDS41487 Q5VWG9 "11438666|18549481" MGI:2388097 RGD:2324594 606576 HGNC:17303 "ENST00000344293.6|NM_031923.4" +HGNC:11537 TAF4 TATA-box binding protein associated factor 4 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "TAFII130|TAFII135" "TAF4A|TAF2C1|TAF2C" "TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD|TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa" General transcription factor IID complex subunits 1878 1995-07-07 2002-01-18 2015-11-20 2015-11-20 6874 ENSG00000130699 OTTHUMG00000032893 uc002ybs.3 Y11354 NM_003185 CCDS33500 O00268 "8942982|9192867" MGI:2152346 RGD:1588072 601796 HGNC:11537 "ENST00000252996.9|NM_003185.4" +HGNC:11538 TAF4B TATA-box binding protein associated factor 4b protein-coding gene gene with protein product Approved 18q11.2 18q11.2 TAFII105 TATA box binding protein (TBP)-associated factor 4B TAF2C2 "TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD|TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa" 1997-05-09 2001-12-07 2015-11-20 2019-08-21 6875 ENSG00000141384 OTTHUMG00000179429 uc002kvu.5 Y09321 NM_005640 "CCDS77170|CCDS42421" Q92750 "8858156|10849440" MGI:2152345 RGD:1562997 601689 401597 HGNC:11538 "ENST00000269142.10|NM_005640.3" HGNC:11538 +HGNC:11539 TAF5 TATA-box binding protein associated factor 5 protein-coding gene gene with protein product Approved 10q24.33 10q24.33 TAFII100 TAF2D "TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD|TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa" "WD repeat domain containing|General transcription factor IID complex subunits " "362|1878" 1995-07-07 2001-12-07 2015-11-20 2016-10-05 6877 ENSG00000148835 OTTHUMG00000018985 uc001kwv.5 X95525 NM_006951 CCDS7547 Q15542 "8884287|8942982" MGI:2442144 RGD:1311332 601787 HGNC:11539 "ENST00000369839.4|NM_006951.5" +HGNC:17304 TAF5L TATA-box binding protein associated factor 5 like protein-coding gene gene with protein product Approved 1q42.13 01q42.13 PAF65B PCAF associated factor 65 beta "TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD|TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa" WD repeat domain containing 362 2001-12-04 2015-11-20 2016-10-05 27097 ENSG00000135801 OTTHUMG00000039463 uc001htq.5 AF069736 NM_014409 "CCDS31051|CCDS1581" O75529 "9674425|11124703" MGI:1919039 RGD:1310215 HGNC:17304 +HGNC:24115 TAF5LP1 TATA-box binding protein associated factor 5 like pseudogene 1 pseudogene pseudogene Approved 17q12 17q12 HsT33855 TAF5LP "TAF5-like RNA polymerase II pseudogene|TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa pseudogene 1" 2005-12-20 2010-09-21 2016-06-22 2020-04-20 645744 ENSG00000267369 OTTHUMG00000179903 NG_022466 PGOHUM00000237366 HGNC:24115 +HGNC:11540 TAF6 TATA-box binding protein associated factor 6 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "TAFII70|TAFII80|MGC:8964|TAFII85" "TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD|transcription initiation factor TFIID 70 kD subunit" TAF2E "TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD|TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa" "Armadillo like helical domain containing|General transcription factor IID complex subunits " "1492|1878" 1995-07-07 2001-12-07 2015-11-20 2021-05-26 6878 ENSG00000106290 OTTHUMG00000154771 uc003utk.3 NM_005641 "CCDS5686|CCDS55135" P49848 826207 MGI:109129 RGD:1311608 602955 471184 HGNC:11540 "ENST00000453269.7|NM_139315.3" +HGNC:17305 TAF6L TATA-box binding protein associated factor 6 like protein-coding gene gene with protein product Approved 11q12.3 11q12.3 PAF65A "TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD|TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa" SAGA complex 1059 2001-12-03 2015-11-20 2015-11-20 10629 ENSG00000162227 OTTHUMG00000167610 uc001nvc.4 BC008785 NM_006473 CCDS8035 Q9Y6J9 9674425 MGI:2444957 RGD:1310123 602946 HGNC:17305 "ENST00000294168.8|NM_006473.4" +HGNC:11541 TAF7 TATA-box binding protein associated factor 7 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 TAFII55 TAF2F "TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD|TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa" General transcription factor IID complex subunits 1878 1995-07-07 2001-12-07 2015-11-20 2016-10-05 6879 ENSG00000178913 OTTHUMG00000129628 uc003ljg.4 AF349038 NM_005642 CCDS4259 Q15545 7824954 MGI:1346348 RGD:1309935 600573 HGNC:11541 "ENST00000313368.8|NM_005642.3" +HGNC:11548 TAF7L TATA-box binding protein associated factor 7 like protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 CT40 cancer/testis antigen 40 TAF2Q "TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q|TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa" 2000-06-29 2001-12-07 2015-11-20 2020-04-02 54457 ENSG00000102387 OTTHUMG00000022021 uc004ehb.4 AF285595 NM_001168474 "CCDS55466|CCDS35347" Q5H9L4 11279525 MGI:1921719 RGD:1564898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TAF7L 300314 HGNC:11548 "ENST00000356784.2|NM_001168474.2" +HGNC:17300 TAF8 TATA-box binding protein associated factor 8 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "FLJ32821|TAF(II)43" TBN "TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa|taube nuss homolog (mouse)|TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa" General transcription factor IID complex subunits 1878 2001-12-03 2007-07-30 2015-11-20 2015-11-20 129685 ENSG00000137413 OTTHUMG00000014692 uc003ors.4 AK057383 NM_138572 CCDS43462 Q7Z7C8 MGI:1926879 RGD:1308423 609514 HGNC:17300 "ENST00000372977.8|NM_138572.3" +HGNC:11542 TAF9 TATA-box binding protein associated factor 9 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "TAFII31|TAFII32|TAFIID32|MGC5067|CGI-137|MGC1603|MGC3647|AD-004" TAF2G "TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD|TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa" General transcription factor IID complex subunits 1878 1995-07-13 2001-12-07 2015-11-20 2015-11-20 6880 ENSG00000273841 OTTHUMG00000099359 uc003jwf.2 U21858 NM_001015892 CCDS4002 Q16594 "10191103|15630091|16079131" MGI:1888697 RGD:727861 600822 HGNC:11542 "ENST00000217893.10|NM_003187.5" HGNC:11542 +HGNC:17306 TAF9B TATA-box binding protein associated factor 9b protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "TAFII31L|DN-7|DN7|TFIID-31" TAF9L "TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa|TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa" 2001-12-03 2006-01-04 2015-11-20 2020-04-02 51616 ENSG00000187325 OTTHUMG00000021887 uc004eda.4 AF220509 NM_015975 CCDS35340 Q9HBM6 15899866 MGI:3039562 RGD:621116 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TAF9B 300754 HGNC:17306 "ENST00000341864.6|NM_015975.5" +HGNC:30687 TAF9BP1 TATA-box binding protein associated factor 9b pseudogene 1 pseudogene pseudogene Approved 3p24.2 03p24.2 TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 1 2010-08-16 2015-11-20 2015-11-20 246135 ENSG00000213871 OTTHUMG00000155604 NG_001574 PGOHUM00000237966 HGNC:30687 +HGNC:38836 TAF9BP2 TATA-box binding protein associated factor 9b pseudogene 2 pseudogene pseudogene Approved 10q25.3 10q25.3 TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa pseudogene 2 2010-08-16 2015-11-20 2015-11-20 100130319 ENSG00000215760 OTTHUMG00000019091 NG_028760 PGOHUM00000238928 HGNC:38836 +HGNC:31743 TAF9P1 TATA-box binding protein associated factor 9 pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 "TAF9 pseudogene 1|TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 1" 2004-06-24 2015-11-20 2016-10-05 360002 ENSG00000226353 OTTHUMG00000041658 NG_002930 12815422 PGOHUM00000233971 HGNC:31743 +HGNC:31744 TAF9P2 TATA-box binding protein associated factor 9 pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 "TAF9 pseudogene 2|TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 2" 2004-06-24 2015-11-20 2016-10-05 360003 ENSG00000229302 OTTHUMG00000041966 NG_002931 12815422 PGOHUM00000233771 HGNC:31744 +HGNC:30678 TAF9P3 TATA-box binding protein associated factor 9 pseudogene 3 pseudogene pseudogene Approved 19q12 19q12 TAF2GL TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene 3 2010-07-21 2015-11-20 2017-10-26 163088 ENSG00000267692 OTTHUMG00000182104 NG_001012 10191103 PGOHUM00000305947 HGNC:30678 +HGNC:11543 TAF10 TATA-box binding protein associated factor 10 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 TAFII30 "TAF2H|TAF2A" "TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD|TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa" "SAGA complex|General transcription factor IID complex subunits " "1059|1878" 1995-05-16 2001-12-07 2015-11-20 2016-10-05 6881 ENSG00000166337 OTTHUMG00000133402 uc001mej.3 "U13991|U25816" NM_006284 CCDS7769 Q12962 7923369 MGI:1346320 RGD:1305907 600475 HGNC:11543 "ENST00000299424.9|NM_006284.4" +HGNC:11544 TAF11 TATA-box binding protein associated factor 11 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 TAFII28 TAF2I "TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD|TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa" General transcription factor IID complex subunits 1878 1995-07-13 2001-12-07 2015-11-20 2016-10-05 6882 ENSG00000064995 OTTHUMG00000014556 uc003ojw.3 X83928 NM_005643 "CCDS59014|CCDS4797" Q15544 "7729427|8820923" MGI:1916026 RGD:1305626 600772 HGNC:11544 "ENST00000361288.9|NM_005643.4" +HGNC:53838 TAF11L1 TATA-box binding protein associated factor 11 like 1 (pseudogene) pseudogene pseudogene Approved 5p15.1 05p15.1 TATA-box binding protein associated factor 11 like 1 2018-05-02 2020-02-17 2020-02-17 285697 NG_023218 21078170 HGNC:53838 +HGNC:53845 TAF11L2 TATA-box binding protein associated factor 11 like 2 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 391742 ENSG00000284373 NM_001401696 21078170 HGNC:53845 +HGNC:53846 TAF11L3 TATA-box binding protein associated factor 11 like 3 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 646103 ENSG00000284439 NM_001401700 21078170 HGNC:53846 +HGNC:53847 TAF11L4 TATA-box binding protein associated factor 11 like 4 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 391746 ENSG00000284283 NM_001401697 21078170 HGNC:53847 +HGNC:53848 TAF11L5 TATA-box binding protein associated factor 11 like 5 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 646066 ENSG00000284234 NM_001401699 21078170 HGNC:53848 +HGNC:53849 TAF11L6 TATA-box binding protein associated factor 11 like 6 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 391747 ENSG00000284042 NM_001401698 21078170 HGNC:53849 +HGNC:53850 TAF11L7 TATA-box binding protein associated factor 11 like 7 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 112488736 ENSG00000284465 NM_001401679 21078170 +HGNC:53851 TAF11L8 TATA-box binding protein associated factor 11 like 8 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 112488737 ENSG00000283967 NM_001401681 21078170 +HGNC:53852 TAF11L9 TATA-box binding protein associated factor 11 like 9 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 112488745 ENSG00000283988 NM_001401693 21078170 +HGNC:53853 TAF11L10 TATA-box binding protein associated factor 11 like 10 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 112488738 ENSG00000284356 NM_001401685 21078170 +HGNC:53854 TAF11L11 TATA-box binding protein associated factor 11 like 11 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 112488746 ENSG00000283740 NM_001401690 26360614 +HGNC:53855 TAF11L12 TATA-box binding protein associated factor 11 like 12 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 112488739 ENSG00000249156 NM_001401686 26360614 +HGNC:53856 TAF11L13 TATA-box binding protein associated factor 11 like 13 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 112488747 ENSG00000283776 NM_001401695 21078170 +HGNC:53857 TAF11L14 TATA-box binding protein associated factor 11 like 14 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 2018-05-02 2022-02-21 112488740 ENSG00000250782 NM_001401687 21078170 +HGNC:11545 TAF12 TATA-box binding protein associated factor 12 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 TAFII20 TAF2J "TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD|TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa" "SAGA complex|General transcription factor IID complex subunits " "1059|1878" 1995-07-13 2001-12-07 2015-11-20 2016-10-05 6883 ENSG00000120656 OTTHUMG00000003655 uc001bqy.5 BC011986 NM_005644 CCDS326 Q16514 7729427 MGI:1913714 RGD:1592841 600773 HGNC:11545 "ENST00000373824.9|NM_005644.4" +HGNC:52502 TAF12-DT TAF12 divergent transcript non-coding RNA RNA, long non-coding Approved 1p35.3 01p35.3 LINC01715 long intergenic non-protein coding RNA 1715 Divergent transcripts 1990 2016-11-08 2021-07-28 2021-07-28 2021-07-28 105378616 ENSG00000229388 OTTHUMG00000003649 NR_146730 HGNC:52502 +HGNC:11546 TAF13 TATA-box binding protein associated factor 13 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 TAFII18 Transcription initiation factor TFIID subunit 13 TAF2K "TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD|TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa" General transcription factor IID complex subunits 1878 1995-07-13 2001-12-07 2015-11-20 2021-05-26 6884 ENSG00000197780 OTTHUMG00000042363 uc001dwm.2 XM_496381 NM_005645 CCDS30788 Q15543 7729427 MGI:1913500 RGD:1305398 600774 HGNC:11546 "ENST00000338366.6|NM_005645.4" HGNC:11546 +HGNC:18699 TAF13P1 TATA-box binding protein associated factor 13 pseudogene 1 pseudogene pseudogene Approved 6q14.3-q15 06q14.3-q15 TAF13P "TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, pseudogene|TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor pseudogene 1" 2002-05-29 2010-04-22 2015-11-20 2015-11-20 246112 AL049697 NG_001573 PGOHUM00000243285 HGNC:18699 +HGNC:38161 TAF13P2 TATA-box binding protein associated factor 13 pseudogene 2 pseudogene pseudogene Approved 2p13.1 02p13.1 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa pseudogene 2 2010-04-22 2015-11-20 2015-11-20 100462886 ENSG00000225658 OTTHUMG00000152793 NG_021566 PGOHUM00000240691 HGNC:38161 +HGNC:11547 TAF15 TATA-box binding protein associated factor 15 protein-coding gene gene with protein product Approved 17q12 17q12 "hTAFII68|RBP56|Npl3" TAF2N "TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)|TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa" "Zinc fingers RANBP2-type |RNA binding motif containing" "89|725" 1999-03-08 2001-12-07 2015-11-20 2020-04-01 8148 ENSG00000270647 OTTHUMG00000188384 uc002hkd.4 U51334 NM_139215 "CCDS32623|CCDS59279" Q92804 "8954779|9795213" MGI:1917689 RGD:1309595 TAF15 601574 361085 HGNC:11547 "ENST00000605844.6|NM_139215.3" +HGNC:21587 TAFA1 TAFA chemokine like family member 1 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 TAFA-1 FAM19A1 family with sequence similarity 19 member A1, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2019-01-14 407738 ENSG00000183662 OTTHUMG00000158745 uc003dne.4 AY325114 NM_213609 CCDS54606 Q7Z5A9 15028294 MGI:2443695 RGD:1563030 617495 HGNC:21587 "ENST00000478136.6|NM_213609.4" +HGNC:21589 TAFA2 TAFA chemokine like family member 2 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 TAFA-2 FAM19A2 family with sequence similarity 19 member A2, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2019-01-14 338811 ENSG00000198673 OTTHUMG00000170207 uc001sqx.4 AY325115 NM_178539 CCDS8962 Q8N3H0 15028294 MGI:2143691 RGD:1589429 617496 HGNC:21589 "ENST00000416284.8|NM_178539.5" +HGNC:21590 TAFA3 TAFA chemokine like family member 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 TAFA-3 FAM19A3 family with sequence similarity 19 member A3, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2019-01-14 284467 ENSG00000184599 OTTHUMG00000012020 uc001ecv.4 AY325119 NM_182759 "CCDS30806|CCDS856" Q7Z5A8 "15028294|25595455" MGI:3046463 RGD:1587462 617497 HGNC:21590 "ENST00000361886.4|NM_182759.3" +HGNC:21591 TAFA4 TAFA chemokine like family member 4 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 TAFA-4 FAM19A4 family with sequence similarity 19 member A4, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2019-01-14 151647 ENSG00000163377 OTTHUMG00000158744 uc021xag.2 AY325117 NM_182522 CCDS2907 Q96LR4 "15028294|25109685" MGI:2444563 RGD:1597443 617498 HGNC:21591 "ENST00000295569.12|NM_182522.5" +HGNC:21592 TAFA5 TAFA chemokine like family member 5 protein-coding gene gene with protein product Approved 22q13.32 22q13.32 TAFA-5 FAM19A5 family with sequence similarity 19 member A5, C-C motif chemokine like TAFA chemokine like family 1829 2005-01-17 2019-01-14 2019-01-14 2019-01-14 25817 ENSG00000219438 OTTHUMG00000150308 uc003bio.6 AY325118 NM_015381 "CCDS46728|CCDS46729" Q7Z5A7 "15028294|18275939" MGI:2146182 RGD:1562115 617499 HGNC:21592 "ENST00000402357.6|NM_001082967.3" +HGNC:11577 TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase protein-coding gene gene with protein product Approved Xq28 Xq28 "BTHS|G4.5|TAZ1" Barth syndrome "CMD3A|EFE2|EFE|TAZ" "endocardial fibroelastosis 2|cardiomyopathy, dilated 3A (X-linked)|tafazzin" 1989-05-29 2021-03-12 2021-03-12 2021-05-26 6901 ENSG00000102125 OTTHUMG00000033190 uc033fbp.2 X92762 NM_000116 "CCDS14749|CCDS35450|CCDS14750|CCDS14748" Q16635 8042670 MGI:109626 RGD:1588532 "TAZbase: Mutation registry for Barth syndrome|http://structure.bmc.lu.se/idbase/TAZbase/|LRG_131|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_131.xml" 300394 119930 HGNC:11577 "ENST00000601016.6|NM_000116.5" HGNC:11577 +HGNC:15669 TAGAP T cell activation RhoGTPase activating protein protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ32631|IDDM21|ARHGAP47" "T-cell activation GTPase activating protein|T-cell activation RhoGTPase activating protein" Rho GTPase activating proteins 721 2001-07-20 2017-12-06 2020-04-20 117289 ENSG00000164691 OTTHUMG00000015923 uc003qrz.5 AF385429 NM_054114 "CCDS5261|CCDS5263|CCDS5262" Q8N103 "16375659|18311140|18356936" MGI:1919786 RGD:1308618 609667 HGNC:15669 "ENST00000367066.8|NM_054114.5" +HGNC:55239 TAGAP-AS1 TAGAP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 Antisense RNAs 1987 2020-09-16 2020-09-16 105378083 ENSG00000271913 XR_001744428 +HGNC:11553 TAGLN transgelin protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "SM22|WS3-10|TAGLN1|SMCC|DKFZp686P11128" SM22-alpha 1998-01-16 2022-01-28 6876 ENSG00000149591 OTTHUMG00000167067 uc001pqn.4 M95787 NM_001001522 CCDS8381 Q01995 "8117285|1520290" MGI:106012 RGD:3723 600818 HGNC:11553 "ENST00000392951.9|NM_003186.5" +HGNC:11554 TAGLN2 transgelin 2 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "KIAA0120|HA1756" SM22-alpha homolog 1998-09-03 2016-10-05 8407 ENSG00000158710 OTTHUMG00000022793 uc001fun.3 D21261 NM_003564 "CCDS60314|CCDS1189" P37802 9693045 MGI:1312985 RGD:1310840 604634 HGNC:11554 "ENST00000368097.9|NM_003564.3" +HGNC:21739 TAGLN2P1 transgelin 2 pseudogene 1 pseudogene pseudogene Approved 8q23.1 08q23.1 2004-11-16 2014-11-19 100418887 ENSG00000253676 OTTHUMG00000164808 NG_026067 PGOHUM00000249475 HGNC:21739 +HGNC:31039 TAGLN2P2 transgelin 2 pseudogene 2 pseudogene pseudogene Approved 8p12 08p12 2004-11-16 2014-11-19 642319 NG_022383 HGNC:31039 +HGNC:29868 TAGLN3 transgelin 3 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 "NP25|NP22" 2004-11-16 2014-11-19 29114 ENSG00000144834 OTTHUMG00000159281 uc003dyl.4 AF303058 NM_013259 CCDS33816 Q9UI15 "8015377|11238712" MGI:1926784 RGD:69301 607953 HGNC:29868 "ENST00000478951.6|NM_001008272.2" +HGNC:11556 TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor protein-coding gene gene with protein product Approved 1p33 01p33 "SCL|bHLHa17" TCL5 T-cell acute lymphocytic leukemia 1 Basic helix-loop-helix proteins 420 1989-05-31 2016-06-27 2016-10-05 6886 ENSG00000162367 OTTHUMG00000007847 uc001cqy.3 M29038 NM_003189 CCDS547 P17542 2740341 MGI:98480 RGD:1306748 TAL1 187040 119916 HGNC:11556 +HGNC:11557 TAL2 TAL bHLH transcription factor 2 protein-coding gene gene with protein product Approved 9q31.2 09q31.2 bHLHa19 T-cell acute lymphocytic leukemia 2 Basic helix-loop-helix proteins 420 1990-07-15 2016-06-27 2016-10-05 6887 ENSG00000186051 OTTHUMG00000020424 uc004bct.4 NM_005421 CCDS6767 Q16559 1763056 MGI:99540 RGD:1596467 TAL2 186855 HGNC:11557 "ENST00000334077.6|NM_005421.3" +HGNC:54476 TALAM1 TALAM1 transcript, MALAT1 antisense RNA non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 Long non-coding RNAs with non-systematic symbols 1992 2019-08-07 2021-09-30 109136579 NR_145459 "26826711|31382922" HGNC:54476 +HGNC:11559 TALDO1 transaldolase 1 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 1997-10-17 2021-05-26 6888 ENSG00000177156 OTTHUMG00000133318 uc001lqz.4 NM_006755 CCDS7712 P37837 9339383 MGI:1274789 RGD:620674 602063 183893 2.2.1.2 HGNC:11559 "ENST00000319006.8|NM_006755.2" HGNC:11559 +HGNC:11560 TALDO1P1 transaldolase 1 pseudogene 1 pseudogene pseudogene Approved 1p32.3 01p32.3 TAL-H "TALDO|TALDOP1" transaldolase pseudogene 1 1996-11-13 2010-01-06 2010-01-06 2010-01-06 6889 NG_009424 8300619 HGNC:11560 +HGNC:18707 TAMALIN trafficking regulator and scaffold protein tamalin protein-coding gene gene with protein product Approved 12q13.13 12q13.13 GRASP "GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein|general receptor for phosphoinositides 1 associated scaffold protein" PDZ domain containing 1220 2002-05-30 2020-02-14 2020-02-14 2020-04-20 160622 ENSG00000161835 OTTHUMG00000169595 uc001rzo.3 AC019244 NM_001271856 "CCDS8817|CCDS61124" Q7Z6J2 10828067 MGI:1860303 RGD:70554 612027 HGNC:18707 "ENST00000293662.9|NM_181711.4" +HGNC:32680 TAMALIN-AS1 TAMALIN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 "GRASPOS|GRASP-AS1" "GRP1-associated scaffold protein opposite strand|GRASP antisense RNA 1" Antisense RNAs 1987 2006-03-31 2020-02-14 2020-02-14 2020-02-14 692159 BC028005 NR_146770 HGNC:32680 +HGNC:25187 TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "MGC16471|DKFZp434E0519" phosphatidate cytidylyltransferase, mitochondrial C3orf31 "chromosome 3 open reading frame 31|TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)" 2005-12-22 2011-08-09 2015-09-25 2020-11-17 132001 ENSG00000144559 OTTHUMG00000129741 uc003bwh.4 NM_138807 "CCDS68345|CCDS2607" Q96BW9 "16943180|19237595|29253589" MGI:1916221 RGD:1586150 614948 HGNC:25187 "ENST00000455809.6|NM_001284401.2" +HGNC:29364 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "KIAA1728|ROLSB" rolling pebbles homolog B (Drosophila) "Ankyrin repeat domain containing|Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes" "403|769|1691" 2005-11-18 2019-12-06 85461 ENSG00000115183 OTTHUMG00000153945 uc002uag.4 AB051515 NM_001145909 CCDS42766 Q9C0D5 "15673434|22182840" MGI:1914110 RGD:1302949 611397 HGNC:29364 "ENST00000263635.8|NM_033394.3" +HGNC:30212 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 protein-coding gene gene with protein product Approved 17q23.2-q23.3 17q23.2-q23.3 "DKFZP564D166|FLJ10215|FLJ11824|KIAA1148|KIAA1636|rols|ROLSA" rolling pebbles homolog B (Drosophila) "Ankyrin repeat domain containing|Tetratricopeptide repeat domain containing" "403|769" 2005-11-18 2018-02-13 26115 ENSG00000170921 OTTHUMG00000179103 uc002jal.5 AB032974 NM_001394998 CCDS45754 Q9HCD6 21068316 MGI:2444121 RGD:1309285 615047 HGNC:30212 HGNC:30212 +HGNC:25439 TANGO2 transport and golgi organization 2 homolog protein-coding gene gene with protein product Approved 22q11.21 22q11.21 DKFZp761P1121 C22orf25 "chromosome 22 open reading frame 25|transport and golgi organization 2 homolog (Drosophila)" MicroRNA protein coding host genes 1691 2006-02-17 2012-12-13 2015-07-03 2022-01-17 128989 ENSG00000183597 OTTHUMG00000150510 uc002zrc.3 NM_152906 "CCDS63407|CCDS13772|CCDS74821|CCDS74822|CCDS63405|CCDS63404|CCDS63406" Q6ICL3 "26805781|26805782|32909282" MGI:101825 RGD:1310348 616830 HGNC:25439 "ENST00000327374.9|NM_152906.7" HGNC:25439 +HGNC:25749 TANGO6 transport and golgi organization 6 homolog protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "FLJ12688|KIAA1746" TMCO7 "transmembrane and coiled-coil domains 7|transport and golgi organization 6 homolog (Drosophila)" Armadillo like helical domain containing 1492 2006-11-17 2012-12-13 2015-07-03 2018-11-19 79613 ENSG00000103047 OTTHUMG00000176743 uc002ewi.5 NM_024562 CCDS45516 Q9C0B7 11214970 MGI:2142786 RGD:1559841 HGNC:25749 "ENST00000261778.2|NM_024562.2" +HGNC:11562 TANK TRAF family member associated NFKB activator protein-coding gene gene with protein product Approved 2q24.2 02q24.2 I-TRAF TRAF2 TRAF family member-associated NFKB activator 1997-06-12 2015-11-19 2015-11-19 10010 ENSG00000136560 OTTHUMG00000132037 uc002ubr.3 U59863 NM_133484 "CCDS2215|CCDS46436" Q92844 "8710854|8855313" MGI:107676 RGD:628859 603893 HGNC:11562 "ENST00000392749.7|NM_001199135.3" +HGNC:40575 TANK-AS1 TANK antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.2 02q24.2 Antisense RNAs 1987 2020-03-27 2020-03-27 105373719 ENSG00000224467 OTTHUMG00000151886 XR_923527 +HGNC:29259 TAOK1 TAO kinase 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "KIAA1361|MARKK|PSK2|MAP3K16|FLJ14314|TAO1|hTAOK1|hKFC-B" "prostate-derived sterile 20-like kinase 2|MARK kinase|thousand and one amino acid protein kinase 1" Mitogen-activated protein kinase kinase kinases 654 2004-10-20 2021-05-26 57551 ENSG00000160551 OTTHUMG00000179718 uc002hdz.3 AB037782 NM_020791 "CCDS32601|CCDS56024" Q7L7X3 "10718198|14517247" MGI:1914490 RGD:708455 610266 objectId:2233 2.7.11.1 HGNC:29259 "ENST00000261716.8|NM_020791.4" HGNC:29259 +HGNC:16835 TAOK2 TAO kinase 2 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "TAO1|KIAA0881|PSK|PSK1|TAO2|MAP3K17|hKFC-C|PSK-1|PSK1-BETA|Tao2beta" "Serine/threonine-protein kinase TAO2|Thousand and one amino acid protein kinase 2|Kinase from chicken homolog C|Prostate-derived sterile 20-like kinase 1" Mitogen-activated protein kinase kinase kinases 654 2004-10-20 2021-12-05 9344 ENSG00000149930 OTTHUMG00000132111 uc002dva.3 AB020688 NM_016151 "CCDS10662|CCDS10663|CCDS58448" Q9UL54 "10048485|9786855|22683681" MGI:1915919 RGD:621590 613199 471186 objectId:2234 2.7.11.1 HGNC:16835 "ENST00000308893.9|NM_016151.4" HGNC:16835 +HGNC:18133 TAOK3 TAO kinase 3 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "JIK|DPK|MAP3K18" Mitogen-activated protein kinase kinase kinases 654 2004-10-20 2020-04-01 51347 ENSG00000135090 OTTHUMG00000168875 uc001twy.4 AF135158 NM_016281 "CCDS86334|CCDS9188" Q9H2K8 "10559204|10924369" MGI:3041177 RGD:1562861 616711 objectId:2235 2.7.11.1 HGNC:18133 "ENST00000392533.8|NM_016281.4" +HGNC:43 TAP1 transporter 1, ATP binding cassette subfamily B member protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "PSF1|RING4|D6S114E" ABCB2 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ATP binding cassette subfamily B 806 1992-06-25 2016-06-21 2021-04-13 6890 ENSG00000168394 OTTHUMG00000031067 uc003ocg.4 NM_000593 CCDS4758 Q03518 "1529427|1946428" MGI:98483 RGD:3817 "TAP1base: Mutation registry for TAP1 deficiency|http://structure.bmc.lu.se/idbase/TAP1base/|IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/|LRG_166|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_166.xml" 170260 123369 objectId:769 HGNC:43 "ENST00000354258.5|NM_000593.6" HGNC:43 +HGNC:44 TAP2 transporter 2, ATP binding cassette subfamily B member protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "PSF2|RING11|D6S217E" ABCB3 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ATP binding cassette subfamily B 806 1992-06-25 2016-06-21 2021-04-13 6891 ENSG00000204267 OTTHUMG00000031068 uc063nrw.1 M74447 NM_000544 "CCDS78129|CCDS4755" Q03519 "1529427|1946428|16395595" MGI:98484 RGD:3818 "TAP2base: Mutation registry for TAP2 deficiency|http://structure.bmc.lu.se/idbase/TAP2base/|IMGT/HLA Database|http://www.ebi.ac.uk/imgt/hla/|LRG_167|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_167.xml" 170261 119922 objectId:770 HGNC:44 "ENST00000374897.4|NM_001290043.2" HGNC:44 +HGNC:11566 TAPBP TAP binding protein protein-coding gene gene with protein product Approved 6p21.32 06p21.32 TAPA tapasin TAP binding protein (tapasin) C1-set domain containing 591 1997-12-17 2016-08-10 2021-04-13 6892 ENSG00000231925 OTTHUMG00000031090 uc063uwb.1 Y13582 NM_003190 "CCDS34427|CCDS34426|CCDS34428" O15533 9238042 MGI:1201689 RGD:3819 "TAPBPbase: Mutation registry for Tapasin deficiency|http://structure.bmc.lu.se/idbase/TAPBPbase/|LRG_114|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_114.xml" 601962 123371 HGNC:11566 "ENST00000434618.7|NM_003190.5" HGNC:11566 +HGNC:30683 TAPBPL TAP binding protein like protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "TAPBP-R|FLJ10143|TAPBPR" TAP binding protein-like C1-set domain containing 591 2004-05-12 2016-03-11 2019-08-21 55080 ENSG00000139192 OTTHUMG00000168317 uc001qog.5 AK001005 NM_018009 CCDS8546 Q9BX59 11920573 MGI:2384853 RGD:1307893 607081 HGNC:30683 "ENST00000266556.8|NM_018009.5" +HGNC:26887 TAPT1 transmembrane anterior posterior transformation 1 protein-coding gene gene with protein product Approved 4p15.32 04p15.32 FLJ90013 2007-02-02 2015-01-12 202018 ENSG00000169762 OTTHUMG00000160177 uc010ied.2 AK074494 NM_153365 CCDS47030 Q6NXT6 17151244 MGI:2683537 RGD:1309656 612758 460737 HGNC:26887 "ENST00000405303.7|NM_153365.3" HGNC:26887 +HGNC:26832 TAPT1-AS1 TAPT1 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 4p15.32 04p15.32 FLJ39653 Antisense RNAs 1987 2012-11-06 2012-11-06 2012-11-06 202020 ENSG00000263327 OTTHUMG00000160321 uc062vkf.1 NR_027696 TAPT1-AS1 HGNC:26832 +HGNC:11568 TARBP1 TAR (HIV-1) RNA binding protein 1 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "TRP-185|TRM3|TRMT3" tRNA methyltransferase 3 homolog (S. cerevisiae) Tar (HIV-1) RNA binding protein 1 "SPOUT methyltransferase domain containing|Armadillo like helical domain containing" "1294|1492" 1992-12-10 2007-06-26 2017-05-26 6894 ENSG00000059588 OTTHUMG00000037947 uc001hwd.3 NM_005646 CCDS1601 Q13395 1936997 MGI:4936930 RGD:1589526 605052 HGNC:11568 "ENST00000040877.2|NM_005646.4" +HGNC:11569 TARBP2 TARBP2 subunit of RISC loading complex protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Trbp "TAR (HIV-1) RNA binding protein 2|TARBP2, RISC loading complex RNA binding subunit" RISC loading complex 1776 1994-04-12 2019-02-01 2019-02-01 6895 ENSG00000139546 OTTHUMG00000169855 uc001sdo.4 NM_004178 "CCDS8861|CCDS41791" Q15633 "2011739|26582366" MGI:103027 RGD:1307375 605053 HGNC:11569 "ENST00000266987.7|NM_134323.2" +HGNC:11570 TARBP2P1 TARBP2 pseudogene 1 pseudogene pseudogene Approved 8q22.3 08q22.3 TRBP TARBP2P "Tar (HIV-1) RNA binding protein 2 pseudogene|TAR (HIV-1) RNA binding protein 2 pseudogene 1|TARBP2P1, RISC loading complex RNA binding subunit pseudogene 1" 1994-04-12 2016-05-12 2019-01-21 2019-01-21 6896 AF197477 NG_001199 2011739 PGOHUM00000303648 HGNC:11570 +HGNC:11571 TARDBP TAR DNA binding protein protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "TDP-43|ALS10" RNA binding motif containing 725 2000-01-28 2021-04-13 23435 ENSG00000120948 OTTHUMG00000002120 uc001art.4 U23731 NM_007375 CCDS122 Q13148 "7745706|31039256" MGI:2387629 RGD:1310906 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_659|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_659.xml" 605078 158581 HGNC:11571 "ENST00000240185.8|NM_007375.4" HGNC:11571 +HGNC:16536 TARDBPP1 TARDBP pseudogene 1 pseudogene pseudogene Approved 20p12.3 20p12.3 bA318P23.1 TARDBPL "TAR DNA binding protein-like|TAR DNA binding protein pseudogene 1" 2001-09-17 2010-10-26 2020-06-30 2020-06-30 643503 ENSG00000233402 OTTHUMG00000031829 NG_009903 HGNC:16536 +HGNC:39848 TARDBPP2 TARDBP pseudogene 2 pseudogene pseudogene Approved 13q21.2 13q21.2 TAR DNA binding protein pseudogene 2 2011-04-01 2020-06-30 2020-06-30 440142 ENSG00000238213 OTTHUMG00000017006 NG_005965 PGOHUM00000248612 HGNC:39848 +HGNC:55122 TARDBPP3 TARDBP pseudogene 3 pseudogene pseudogene Approved 2q37.3 02q37.3 2020-06-30 2020-06-30 643387 NR_026923 PGOHUM00000298918 +HGNC:55123 TARDBPP4 TARDBP pseudogene 4 pseudogene pseudogene Approved 8q12.3 08q12.3 2020-06-30 2020-06-30 100128540 ENSG00000253555 PGOHUM00000303227 +HGNC:55124 TARDBPP5 TARDBP pseudogene 5 pseudogene pseudogene Approved 6q16.3 06q16.3 2020-06-30 2020-06-30 100996860 PGOHUM00000301491 +HGNC:50506 TARID TCF21 antisense RNA inducing promoter demethylation non-coding RNA RNA, long non-coding Approved 6q23.2 06q23.2 EYA4-AS1 EYA4 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2014-05-13 2014-08-20 2014-08-20 2018-09-12 100507308 ENSG00000227954 OTTHUMG00000015607 NR_109982 25087872 616058 TARID HGNC:50506 +HGNC:37250 TARM1 T cell-interacting, activating receptor on myeloid cells 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Immunoglobulin like domain containing 594 2009-12-14 2017-12-06 2017-12-06 441864 ENSG00000248385 OTTHUMG00000064912 uc010yei.1 NM_001135686 "CCDS46173|CCDS82395" B6A8C7 MGI:2442280 RGD:1564272 616802 HGNC:37250 "ENST00000432826.2|NM_001135686.3" +HGNC:11572 TARS1 threonyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 5p13.3 05p13.3 threonine tRNA ligase 1, cytoplasmic TARS threonyl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 2001-06-22 2019-07-15 2019-07-15 2019-07-15 6897 ENSG00000113407 OTTHUMG00000090683 uc003jhy.5 AK095852 NM_152295 "CCDS58943|CCDS3899" P26639 MGI:106314 RGD:1359527 187790 6.1.1.3 HGNC:11572 "ENST00000265112.8|NM_152295.5" HGNC:11572 +HGNC:55565 TARS1-DT TARS1 divergent transcript non-coding RNA RNA, long non-coding Approved 5p13.3 05p13.3 Divergent transcripts 1990 2021-04-14 2021-04-14 107986411 ENSG00000249572 XR_001742630 +HGNC:30740 TARS2 threonyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1q21.2 01q21.2 FLJ12528 threonine tRNA ligase 2, mitochondrial TARSL1 threonyl-tRNA synthetase-like 1 "Aminoacyl tRNA synthetases, Class II|MicroRNA protein coding host genes" "132|1691" 2004-11-10 2007-02-23 2017-12-12 2017-12-12 80222 ENSG00000143374 OTTHUMG00000012809 uc001euq.5 BC007824 NM_025150 "CCDS952|CCDS60251|CCDS60252" Q9BW92 26811336 MGI:1919057 RGD:1308283 612805 432060 6.1.1.3 HGNC:30740 "ENST00000369064.8|NM_025150.5" HGNC:30740 +HGNC:43712 TARS2P1 TARS2 pseudogene 1 pseudogene pseudogene Approved 4q28.3 04q28.3 "threonyl-tRNA synthetase 2, mitochondrial pseudogene|threonyl-tRNA synthetase 2, mitochondrial (putative) pseudogene 1" 2012-02-02 2018-07-18 2018-07-18 100533844 ENSG00000248104 OTTHUMG00000161214 NG_028840 PGOHUM00000245702 HGNC:43712 +HGNC:24728 TARS3 threonyl-tRNA synthetase 3 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "FLJ25005|ThrRS-L" TARSL2 threonyl-tRNA synthetase like 2 2004-11-10 2019-08-08 2019-08-08 2019-08-08 123283 ENSG00000185418 OTTHUMG00000149869 uc002bxm.4 AL833188 NM_152334 CCDS10394 A2RTX5 "24312579|31287872|29579307" MGI:2444486 RGD:1311308 HGNC:24728 "ENST00000335968.8|NM_152334.3" +HGNC:14448 TAS1R1 taste 1 receptor member 1 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "T1R1|TR1" GPR70 "G protein-coupled receptor 70|taste receptor, type 1, member 1" Taste 1 receptors 1161 2001-03-21 2015-12-16 2015-12-16 80835 ENSG00000173662 OTTHUMG00000001441 uc001ant.4 NM_138697 "CCDS82|CCDS81" Q7RTX1 "12856281|11894099" MGI:1927505 RGD:61891 606225 objectId:656 HGNC:14448 "ENST00000333172.11|NM_138697.4" +HGNC:14905 TAS1R2 taste 1 receptor member 2 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "T1R2|TR2" GPR71 "G protein-coupled receptor 71|taste receptor, type 1, member 2" Taste 1 receptors 1161 2001-03-21 2015-12-16 2015-12-16 80834 ENSG00000179002 OTTHUMG00000002442 uc001bba.2 NM_152232 CCDS187 Q8TE23 MGI:1933546 RGD:61894 606226 objectId:657 HGNC:14905 +HGNC:15661 TAS1R3 taste 1 receptor member 3 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 T1R3 taste receptor, type 1, member 3 Taste 1 receptors 1161 2001-05-02 2015-12-16 2016-10-05 83756 ENSG00000169962 OTTHUMG00000003071 uc010nyk.3 AC026283 NM_152228 CCDS30556 Q7RTX0 11319557 MGI:1933547 RGD:620539 605865 objectId:658 HGNC:15661 "ENST00000339381.6|NM_152228.3" +HGNC:14909 TAS2R1 taste 2 receptor member 1 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 "T2R1|TRB7" taste receptor, type 2, member 1 Taste 2 receptors 1162 2001-03-21 2015-12-16 2016-10-05 50834 ENSG00000169777 OTTHUMG00000090500 uc003jem.2 AF227129 NM_001386348 CCDS3876 Q9NYW7 "10761934|10766242" MGI:2681253 RGD:620733 604796 objectId:659 HGNC:14909 "ENST00000382492.4|NM_019599.3" +HGNC:20615 TAS2R2P taste 2 receptor member 2, pseudogene pseudogene pseudogene Approved 7p21.3 07p21.3 "T2R02|T2R2" TAS2R2 "taste receptor, type 2, member 2|taste receptor, type 2, member 2, pseudogene" Taste 2 receptors 1162 2003-03-12 2012-04-27 2018-01-12 2019-03-26 338396 ENSG00000203523 OTTHUMG00000152381 AX097698 NG_005302 PGOHUM00000233131 HGNC:20615 +HGNC:14910 TAS2R3 taste 2 receptor member 3 protein-coding gene gene with protein product Approved 7q34 07q34 T2R3 taste receptor, type 2, member 3 Taste 2 receptors 1162 2001-03-16 2015-12-16 2016-10-05 50831 ENSG00000127362 OTTHUMG00000157637 uc003vwp.1 AF227130 NM_016943 CCDS5867 Q9NYW6 MGI:3606604 RGD:1560602 604868 objectId:660 HGNC:14910 "ENST00000247879.2|NM_016943.2" +HGNC:14911 TAS2R4 taste 2 receptor member 4 protein-coding gene gene with protein product Approved 7q34 07q34 T2R4 taste receptor, type 2, member 4 Taste 2 receptors 1162 2001-03-16 2015-12-16 2015-12-16 50832 ENSG00000127364 OTTHUMG00000157634 uc003vwq.2 AF227131 NM_016944 CCDS5868 Q9NYW5 "10761934|10761935" MGI:2681210 RGD:1561194 604869 objectId:661 HGNC:14911 "ENST00000247881.4|NM_016944.2" +HGNC:14912 TAS2R5 taste 2 receptor member 5 protein-coding gene gene with protein product Approved 7q34 07q34 T2R5 taste receptor, type 2, member 5 Taste 2 receptors 1162 2001-03-16 2015-12-16 2016-10-05 54429 ENSG00000127366 OTTHUMG00000157632 uc003vwr.2 AF227132 NM_018980 CCDS5869 Q9NYW4 605062 objectId:662 HGNC:14912 "ENST00000247883.5|NM_018980.3" +HGNC:20616 TAS2R6P taste 2 receptor member 6 pseudogene pseudogene pseudogene Approved 7q34 07q34 "T2R06|T2R6" TAS2R6 "taste receptor, type 2, member 6|taste receptor, type 2, member 6, pseudogene" Taste 2 receptors 1162 2003-03-12 2014-03-19 2015-12-16 2020-04-20 448990 ENSG00000270923 OTTHUMG00000184995 AX097706 NG_004700 HGNC:20616 +HGNC:14913 TAS2R7 taste 2 receptor member 7 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "T2R7|TRB4" taste receptor, type 2, member 7 Taste 2 receptors 1162 2001-03-21 2015-12-16 2016-10-05 50837 ENSG00000121377 OTTHUMG00000168505 uc001qyv.3 AF227133 NM_023919 CCDS8631 Q9NYW3 "10761934|10766242" MGI:2681278 RGD:1597354 604793 objectId:663 HGNC:14913 "ENST00000240687.2|NM_023919.2" +HGNC:14915 TAS2R8 taste 2 receptor member 8 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "T2R8|TRB5" taste receptor, type 2, member 8 Taste 2 receptors 1162 2001-03-21 2015-12-16 2016-10-05 50836 ENSG00000121314 OTTHUMG00000168506 uc010shh.3 AF227134 NM_023918 CCDS8632 Q9NYW2 "10761934|10766242" 604794 objectId:664 HGNC:14915 "ENST00000240615.3|NM_023918.3" +HGNC:14917 TAS2R9 taste 2 receptor member 9 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "T2R9|TRB6" taste receptor, type 2, member 9 Taste 2 receptors 1162 2001-03-21 2015-12-16 2016-10-05 50835 ENSG00000121381 OTTHUMG00000168507 uc001qyx.4 AF227135 NM_023917 CCDS8633 Q9NYW1 "10761934|10766242" 604795 objectId:665 HGNC:14917 "ENST00000240691.4|NM_023917.2" +HGNC:14918 TAS2R10 taste 2 receptor member 10 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "T2R10|TRB2" taste receptor, type 2, member 10 Taste 2 receptors 1162 2001-03-21 2015-12-16 2016-10-05 50839 ENSG00000121318 OTTHUMG00000168508 uc001qyy.2 AF227136 NM_023921 CCDS8634 Q9NYW0 "10761934|10766242" "MGI:2681185|MGI:2681195|MGI:2681203|MGI:2681207|MGI:2681218" RGD:620736 604791 objectId:666 HGNC:14918 +HGNC:19103 TAS2R12P taste 2 receptor member 12 pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 T2R12 TAS2R12 "taste receptor, type 2, member 12|taste receptor, type 2, member 12 pseudogene|taste receptor, type 2, member 12, pseudogene" Taste 2 receptors 1162 2002-09-26 2012-04-27 2015-12-16 2019-03-26 266656 AX097717 NG_005300 PGOHUM00000239335 HGNC:19103 +HGNC:14919 TAS2R13 taste 2 receptor member 13 protein-coding gene gene with protein product Approved 12p13 12p13 "T2R13|TRB3" taste receptor, type 2, member 13 Taste 2 receptors 1162 2001-03-21 2015-12-16 2015-12-16 50838 ENSG00000212128 OTTHUMG00000168555 uc001qzg.1 AF227137 NM_023920 CCDS8635 Q9NYV9 "10761934|10766242" "MGI:2681171|MGI:2681259|MGI:2681267" RGD:620738 604792 objectId:667 HGNC:14919 "ENST00000390677.2|NM_023920.2" +HGNC:14920 TAS2R14 taste 2 receptor member 14 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "T2R14|TRB1" taste receptor, type 2, member 14 Taste 2 receptors 1162 2001-03-21 2015-12-16 2016-10-05 50840 ENSG00000212127 OTTHUMG00000162720 uc010shi.3 AF227138 NM_023922 CCDS8637 Q9NYV8 "10761934|10766242" "MGI:1890257|MGI:1890258|MGI:2681214|MGI:2681216|MGI:2681217|MGI:2681223|MGI:2681242|MGI:2681264|MGI:2681269|MGI:2681276|MGI:2681298" RGD:2314265 604790 objectId:668 HGNC:14920 +HGNC:19106 TAS2R15P taste 2 receptor member 15 pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 "T2R15|PS8" TAS2R15 "taste receptor, type 2, member 15|taste receptor, type 2, member 15 pseudogene|taste receptor, type 2, member 15, pseudogene" Taste 2 receptors 1162 2002-09-26 2014-03-19 2015-12-16 2015-12-16 266657 ENSG00000212125 OTTHUMG00000169063 AX097723 NG_002788 PGOHUM00000239336 HGNC:19106 +HGNC:14921 TAS2R16 taste 2 receptor member 16 protein-coding gene gene with protein product Approved 7q31.32 07q31.32 T2R16 taste receptor, type 2, member 16 Taste 2 receptors 1162 2001-03-16 2015-12-16 2016-10-05 50833 ENSG00000128519 OTTHUMG00000157090 uc003vkl.2 AF227139 NM_016945 CCDS5785 Q9NYV7 10761934 MGI:2681247 RGD:620735 604867 objectId:669 HGNC:14921 "ENST00000249284.3|NM_016945.3" +HGNC:19107 TAS2R18P taste 2 receptor member 18 pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 "T2R18|TAS2R65" "TAS2R65P|TAS2R18" "taste receptor, type 2, member 65 pseudogene|taste receptor, type 2, member 18|taste receptor, type 2, member 18 pseudogene|taste receptor, type 2, member 18, pseudogene" Taste 2 receptors 1162 2002-09-26 2014-03-19 2015-12-16 2020-04-20 338414 "AX097728|AY114099" NG_002676 PGOHUM00000239345 HGNC:19107 +HGNC:19108 TAS2R19 taste 2 receptor member 19 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "T2R19|T2R23" "TAS2R48|TAS2R23" "taste receptor, type 2, member 48|taste receptor, type 2, member 23|taste receptor, type 2, member 19" Taste 2 receptors 1162 2002-09-26 2015-12-16 2020-04-20 259294 ENSG00000212124 OTTHUMG00000162687 uc010shj.3 "AX097730|AF494234" NM_176888 CCDS8640 P59542 "MGI:2681256|MGI:2681304" 613961 objectId:670 HGNC:19108 "ENST00000390673.2|NM_176888.2" +HGNC:19109 TAS2R20 taste 2 receptor member 20 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "T2R20|T2R56" TAS2R49 "taste receptor, type 2, member 49|taste receptor, type 2, member 20" Taste 2 receptors 1162 2002-09-26 2015-12-16 2015-12-16 259295 ENSG00000255837 OTTHUMG00000162695 uc001qzm.3 "AX097732|AF494236" NM_176889 CCDS8639 P59543 "MGI:2681256|MGI:2681304" RGD:1596060 613962 objectId:671 HGNC:19109 "ENST00000538986.2|NM_176889.4" +HGNC:19110 TAS2R22P taste 2 receptor member 22 pseudogene pseudogene pseudogene Approved 12 not on reference assembly 12 not on reference assembly T2R22 TAS2R22 "taste receptor, type 2, member 22|taste 2 receptor member 22" Taste 2 receptors 1162 2002-09-26 2020-12-01 2019-08-23 2020-12-01 266661 AX097735 +HGNC:19112 TAS2R30 taste 2 receptor member 30 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 T2R30 TAS2R47 "taste receptor, type 2, member 47|taste receptor, type 2, member 30" Taste 2 receptors 1162 2002-09-26 2015-12-16 2015-12-16 259293 ENSG00000256188 OTTHUMG00000168562 uc009zhs.2 "AX097746|AF494233" NM_001097643 CCDS53750 P59541 "MGI:2681256|MGI:2681304" 613963 objectId:673 HGNC:19112 +HGNC:19113 TAS2R31 taste 2 receptor member 31 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "T2R31|T2R53" TAS2R44 "taste receptor, type 2, member 44|taste receptor, type 2, member 31" Taste 2 receptors 1162 2002-09-26 2015-12-16 2020-04-20 259290 ENSG00000256436 OTTHUMG00000168558 uc001qzo.1 "AX097748|AF494228" NM_176885 CCDS53747 P59538 MGI:2681256 RGD:2314262 612669 objectId:674 HGNC:19113 "ENST00000390675.2|NM_176885.2" +HGNC:19114 TAS2R33 taste 2 receptor member 33 protein-coding gene gene with protein product Approved 12 not on reference assembly 12 not on reference assembly T2R33 taste receptor, type 2, member 33 Taste 2 receptors 1162 2002-09-26 2015-12-16 2019-06-28 266665 AX097751 P0DSN6 +HGNC:19115 TAS2R36 taste 2 receptor member 36 protein-coding gene gene with protein product Approved 12 not on reference assembly 12 not on reference assembly T2R36 taste receptor, type 2, member 36 Taste 2 receptors 1162 2002-09-26 2015-12-16 2019-06-28 266666 AX097755 P0DTE0 +HGNC:19116 TAS2R37 taste 2 receptor member 37 pseudogene pseudogene pseudogene Approved 12 not on reference assembly 12 not on reference assembly T2R37 "taste receptor, type 2, member 37|taste 2 receptor member 37" Taste 2 receptors 1162 2002-09-26 2019-08-23 2019-08-23 266667 AX097757 +HGNC:9584 TAS2R38 taste 2 receptor member 38 protein-coding gene gene with protein product Approved 7q34 07q34 T2R61 PTC "phenylthiocarbamide tasting|taste receptor, type 2, member 38" Taste 2 receptors 1162 2001-06-22 2003-05-30 2015-12-16 2015-12-16 5726 ENSG00000257138 OTTHUMG00000158374 uc003vwx.1 AF494231 NM_176817 CCDS34765 P59533 "12624758|12584440" MGI:2681306 RGD:1560649 607751 objectId:682 HGNC:9584 "ENST00000547270.1|NM_176817.5" +HGNC:18886 TAS2R39 taste 2 receptor member 39 protein-coding gene gene with protein product Approved 7q34 07q34 taste receptor, type 2, member 39 Taste 2 receptors 1162 2002-08-16 2015-12-16 2015-12-16 259285 ENSG00000236398 OTTHUMG00000152636 uc011ksw.2 AF494230 NM_176881 CCDS47729 P59534 12379855 MGI:2681308 RGD:1595436 objectId:675 HGNC:18886 "ENST00000446620.1|NM_176881.2" +HGNC:18885 TAS2R40 taste 2 receptor member 40 protein-coding gene gene with protein product Approved 7q34 07q34 GPR60 "G protein-coupled receptor 60|taste receptor, type 2, member 40" Taste 2 receptors 1162 2002-08-16 2015-12-16 2015-12-16 259286 ENSG00000221937 OTTHUMG00000152638 uc011ksx.3 AF494229 NM_176882 CCDS43662 P59535 12379855 MGI:2681312 RGD:1562314 613964 objectId:676 HGNC:18885 "ENST00000408947.4|NM_176882.2" +HGNC:18883 TAS2R41 taste 2 receptor member 41 protein-coding gene gene with protein product Approved 7q35 07q35 T2R59 taste receptor, type 2, member 41 Taste 2 receptors 1162 2002-08-16 2015-12-16 2016-10-05 259287 ENSG00000221855 OTTHUMG00000155892 uc003wdc.1 AF494232 NM_176883 CCDS43663 P59536 12379855 MGI:2681273 RGD:727853 613965 objectId:680 HGNC:18883 "ENST00000408916.1|NM_176883.2" +HGNC:18888 TAS2R42 taste 2 receptor member 42 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "T2R24|T2R55|hT2R55|TAS2R55" taste receptor, type 2, member 42 Taste 2 receptors 1162 2002-08-16 2015-12-16 2016-10-05 353164 ENSG00000186136 OTTHUMG00000168567 uc031yun.1 "AX097739|AB199241" NM_181429 CCDS31747 Q7RTR8 12679530 MGI:2681280 RGD:2324836 613966 objectId:672 HGNC:18888 "ENST00000334266.1|NM_181429.2" +HGNC:18875 TAS2R43 taste 2 receptor member 43 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 T2R52 taste receptor, type 2, member 43 Taste 2 receptors 1162 2002-08-16 2015-12-16 2020-04-01 259289 ENSG00000255374 OTTHUMG00000165352 uc001qzq.1 AF494237 NM_176884 CCDS53749 P59537 12379855 "MGI:2681256|MGI:2681304" 612668 objectId:678 HGNC:18875 "ENST00000531678.1|NM_176884.2" +HGNC:18876 TAS2R45 taste 2 receptor member 45 protein-coding gene gene with protein product Approved 12 alternate reference locus 12 alternate reference locus ZG24P GPR59 "G protein-coupled receptor 59|taste receptor, type 2, member 45" Taste 2 receptors 1162 2002-08-16 2015-12-16 2018-02-07 259291 AF494226 NM_176886 P59539 12379855 MGI:2681256 613967 objectId:2828 +HGNC:18877 TAS2R46 taste 2 receptor member 46 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 T2R54 taste receptor, type 2, member 46 Taste 2 receptors 1162 2002-08-16 2015-12-16 2020-04-01 259292 ENSG00000226761 OTTHUMG00000165351 uc001qzp.1 AF494227 NM_176887 CCDS53748 P59540 12379855 MGI:2681256 612774 objectId:679 HGNC:18877 "ENST00000533467.1|NM_176887.2" +HGNC:18882 TAS2R50 taste 2 receptor member 50 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 T2R51 taste receptor, type 2, member 50 Taste 2 receptors 1162 2002-08-16 2015-12-16 2015-12-16 259296 ENSG00000212126 OTTHUMG00000162719 uc001qzl.2 AF494235 NM_176890 CCDS8638 P59544 "12379855|12584440|16175505" "MGI:2681256|MGI:2681304" 609627 objectId:677 HGNC:18882 "ENST00000506868.1|NM_176890.2" +HGNC:20639 TAS2R60 taste 2 receptor member 60 protein-coding gene gene with protein product Approved 7q35 07q35 T2R60 taste receptor, type 2, member 60 Taste 2 receptors 1162 2003-03-12 2015-12-16 2015-12-16 338398 ENSG00000185899 OTTHUMG00000154891 uc011ktg.2 AY114094 NM_177437 CCDS5885 P59551 12584440 MGI:2681302 RGD:1561078 613968 objectId:681 HGNC:20639 "ENST00000332690.1|NM_177437.1" +HGNC:20640 TAS2R62P taste 2 receptor member 62 pseudogene pseudogene pseudogene Approved 7q35 07q35 "T2R62|TAS2R62" taste receptor, type 2, member 62, pseudogene Taste 2 receptors 1162 2003-03-12 2015-12-16 2019-03-26 338399 ENSG00000234066 OTTHUMG00000154892 AY114096 NG_002653 12584440 PGOHUM00000233616 HGNC:20640 +HGNC:20641 TAS2R63P taste 2 receptor member 63 pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 "taste receptor, type 2, member 63 pseudogene|taste receptor, type 2, member 63, pseudogene" Taste 2 receptors 1162 2003-03-14 2015-12-16 2017-10-26 338413 ENSG00000256019 OTTHUMG00000168559 AY114097 NG_002675 12584440 PGOHUM00000291235 HGNC:20641 +HGNC:20642 TAS2R64P taste 2 receptor member 64 pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 "T2R64|T2R64P" "taste receptor, type 2, member 64 pseudogene|taste receptor, type 2, member 64, pseudogene" Taste 2 receptors 1162 2003-03-14 2015-12-16 2017-10-26 338412 ENSG00000256274 OTTHUMG00000168560 AY114098 NG_002674 12584440 PGOHUM00000307765 HGNC:20642 +HGNC:43898 TAS2R67P taste 2 receptor member 67 pseudogene pseudogene pseudogene Approved 12p13.2 12p13.2 taste receptor, type 2, member 67 pseudogene Taste 2 receptors 1162 2012-04-27 2015-12-16 2015-12-16 448991 NG_004701 PGOHUM00000291239 HGNC:43898 +HGNC:43905 TAS2R68P taste 2 receptor member 68 pseudogene pseudogene pseudogene Approved 12 alternate reference locus 12 alternate reference locus "T2R68P|PS7" taste receptor, type 2, member 68 pseudogene Taste 2 receptors 1162 2012-05-01 2015-12-16 2020-04-20 100653053 "AB199304|BK001064|AY724934" NG_004699 "15744053|15496549|12679530" +HGNC:25667 TASL TLR adaptor interacting with endolysosomal SLC15A4 protein-coding gene gene with protein product Approved Xp21.2 Xp21.2 FLJ11577 TLR adaptor interacting with SLC15A4 on the lysosome CXorf21 chromosome X open reading frame 21 2004-06-02 2020-07-02 2020-07-02 2020-07-02 80231 ENSG00000120280 OTTHUMG00000021325 uc004dcg.3 BC020611 NM_025159 CCDS14224 Q9HAI6 "31001245|31092820|32433612" MGI:1918648 RGD:1565785 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf21 301049 HGNC:25667 "ENST00000378962.4|NM_025159.3" +HGNC:30314 TASOR transcription activation suppressor protein-coding gene gene with protein product Approved 3p14.3 03p14.3 "se89-1|RAP140|KIAA1105|TASOR1" transgene activation suppressor "C3orf63|FAM208A" "chromosome 3 open reading frame 63|family with sequence similarity 208, member A|family with sequence similarity 208 member A" 2006-02-10 2018-12-20 2018-12-20 2020-10-12 23272 ENSG00000163946 OTTHUMG00000158827 uc003dic.5 AF180425 NM_015224 "CCDS87094|CCDS46853|CCDS2877" Q9UK61 "26022416|26853531|33009411" MGI:1921694 RGD:1595469 616493 HGNC:30314 "ENST00000683822.1|NM_001365635.2" +HGNC:23484 TASOR2 transcription activation suppressor family member 2 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "FLJ20360|bA318E3.2|KIAA2006" "C10orf18|FAM208B" "chromosome 10 open reading frame 18|family with sequence similarity 208, member B|family with sequence similarity 208 member B" 2004-05-27 2018-12-20 2018-12-20 2018-12-20 54906 ENSG00000108021 OTTHUMG00000017605 uc001iij.3 BX649177 NM_017782 CCDS41485 Q5VWN6 12477932 MGI:2145274 RGD:1564456 HGNC:23484 +HGNC:15859 TASP1 taspase 1 protein-coding gene gene with protein product Approved 20p12.1 20p12.1 "FLJ20212|dJ585I14.2" threonine aspartase C20orf13 chromosome 20 open reading frame 13 2001-06-21 2005-10-15 2015-11-13 2016-10-05 55617 ENSG00000089123 OTTHUMG00000031904 uc002woi.4 AK000219 NM_017714 CCDS13116 Q9H6P5 "14636557|27308523" MGI:1923062 RGD:1308591 608270 T02.004 objectId:2419 3.4.25.- HGNC:15859 "ENST00000337743.9|NM_017714.3" HGNC:15859 +HGNC:11573 TAT tyrosine aminotransferase protein-coding gene gene with protein product Approved 16q22.2 16q22.2 2001-06-22 2016-10-05 6898 ENSG00000198650 OTTHUMG00000137590 uc002fap.3 NM_000353 CCDS10903 P17735 MGI:98487 RGD:3820 613018 119928 objectId:2527 2.6.1.5 HGNC:11573 "ENST00000355962.5|NM_000353.3" HGNC:11573 +HGNC:51369 TAT-AS1 TAT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q22.2 16q22.2 Antisense RNAs 1987 2014-10-16 2014-10-16 100132529 ENSG00000260886 OTTHUMG00000176800 "HY017421|BU568247|BM853033" NR_103851 TAT-AS1 HGNC:51369 +HGNC:24220 TATDN1 TatD DNase domain containing 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 CDA11 MicroRNA protein coding host genes 1691 2004-06-07 2019-03-19 83940 ENSG00000147687 OTTHUMG00000165068 uc003yrd.4 AF212250 NM_032026 "CCDS55273|CCDS6351|CCDS83323" Q6P1N9 23187801 MGI:1916944 RGD:1585145 619364 HGNC:24220 "ENST00000276692.11|NM_032026.4" +HGNC:45058 TATDN1P1 TatD DNase domain containing 1 pseudogene 1 pseudogene pseudogene Approved 10q21.3 10q21.3 2013-02-07 2013-02-07 728737 ENSG00000234369 OTTHUMG00000018312 NG_011726 PGOHUM00000238810 HGNC:45058 +HGNC:28988 TATDN2 TatD DNase domain containing 2 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 KIAA0218 2004-06-07 2018-11-19 9797 ENSG00000157014 OTTHUMG00000155361 uc011atr.3 D86972 NM_014760 CCDS33698 Q93075 9039502 MGI:3576210 RGD:1586017 619330 HGNC:28988 "ENST00000448281.7|NM_014760.4" +HGNC:39254 TATDN2P1 TatD DNase domain containing 2 pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2010-11-24 2010-11-24 100131103 ENSG00000198414 OTTHUMG00000021392 NG_011742 PGOHUM00000241726 HGNC:39254 +HGNC:39255 TATDN2P2 TatD DNase domain containing 2 pseudogene 2 pseudogene pseudogene Approved 6q25.3 06q25.3 2010-11-24 2010-11-24 100272205 ENSG00000218226 OTTHUMG00000015912 NG_011739 PGOHUM00000243432 HGNC:39255 +HGNC:39256 TATDN2P3 TatD DNase domain containing 2 pseudogene 3 pseudogene pseudogene Approved 13q12.12 13q12.12 2010-11-24 2010-11-24 100420458 ENSG00000235205 OTTHUMG00000016560 NG_024898 PGOHUM00000248529 HGNC:39256 +HGNC:27010 TATDN3 TatD DNase domain containing 3 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 2005-07-14 2018-11-19 128387 ENSG00000203705 OTTHUMG00000036805 uc001hjo.3 AL832248 NM_001042552 "CCDS86050|CCDS41465|CCDS53477|CCDS31019|CCDS53475|CCDS53476" Q17R31 MGI:1916222 RGD:1589779 HGNC:27010 "ENST00000366974.9|NM_001042552.3" +HGNC:11575 TAX1BP1 Tax1 binding protein 1 protein-coding gene gene with protein product Approved 7p15.2 07p15.2 "TXBP151|CALCOCO3" Tax1 (human T-cell leukemia virus type I) binding protein 1 1999-06-10 2016-03-15 2016-10-05 8887 ENSG00000106052 OTTHUMG00000023377 uc003szl.4 U33821 NM_006024 "CCDS43561|CCDS56471|CCDS5415" Q86VP1 10435631 MGI:1289308 RGD:708579 605326 HGNC:11575 "ENST00000396319.7|NM_006024.7" +HGNC:40576 TAX1BP1-AS1 TAX1BP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p15.2 07p15.2 Antisense RNAs 1987 2020-03-27 2020-03-27 105375210 ENSG00000229893 OTTHUMG00000152710 XR_927138 +HGNC:30684 TAX1BP3 Tax1 binding protein 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 TIP-1 Tax interaction protein 1 Tax1 (human T-cell leukemia virus type I) binding protein 3 PDZ domain containing 1220 2004-06-15 2016-02-17 2016-10-05 30851 ENSG00000213977 OTTHUMG00000090701 uc002fwc.4 AF028823 NM_014604 "CCDS11032|CCDS73940" O14907 "8619474|10673275" MGI:1923531 RGD:1308924 616484 HGNC:30684 "ENST00000225525.4|NM_014604.4" +HGNC:23511 TBATA thymus, brain and testes associated protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "FLJ32820|spatial" C10orf27 chromosome 10 open reading frame 27 2003-11-21 2012-05-23 2012-05-23 2016-10-05 219793 ENSG00000166220 OTTHUMG00000018413 uc001jrj.1 AK057382 NM_152710 "CCDS7308|CCDS81471" Q96M53 20937703 MGI:1923820 RGD:1561665 612640 HGNC:23511 "ENST00000456372.4|NM_001318241.2" +HGNC:11578 TBC1D1 TBC1 domain family member 1 protein-coding gene gene with protein product Approved 4p14 04p14 "TBC|TBC1|KIAA1108" "TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1|TBC1 domain family, member 1" 2000-03-06 2015-11-18 2015-11-18 23216 ENSG00000065882 OTTHUMG00000150302 uc003gtb.4 AB029031 NM_015173 "CCDS58897|CCDS33972" Q86TI0 "10965142|18258599" MGI:1889508 RGD:1304562 609850 HGNC:11578 "ENST00000261439.9|NM_015173.4" +HGNC:18026 TBC1D2 TBC1 domain family member 2 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "PARIS1|TBC1D2A|Armus" prostate antigen recognized and identified by SEREX TBC1 domain family, member 2 MicroRNA protein coding host genes 1691 2002-02-15 2015-11-18 2016-10-05 55357 ENSG00000095383 OTTHUMG00000020343 uc011lvb.3 AY026527 NM_018421 "CCDS35080|CCDS59137|CCDS75865" Q9BYX2 MGI:2652885 RGD:1306860 609871 HGNC:18026 "ENST00000465784.7|NM_001267571.2" +HGNC:29183 TBC1D2B TBC1 domain family member 2B protein-coding gene gene with protein product Approved 15q24.3-q25.1 15q24.3-q25.1 KIAA1055 TBC1 domain family, member 2B 2005-11-29 2015-11-18 2018-02-13 23102 ENSG00000167202 OTTHUMG00000152885 uc010bla.4 AB028978 NM_015079 "CCDS45314|CCDS32301" Q9UPU7 10470851 MGI:1914266 RGD:1307436 619152 HGNC:29183 "ENST00000300584.8|NM_144572.2" +HGNC:19031 TBC1D3 TBC1 domain family member 3 protein-coding gene gene with protein product Approved 17q12 17q12 "TBC1D3A|DKFZp434P2235|PRC17" prostate cancer gene 17 TBC1 domain family, member 3 2003-05-29 2015-11-18 2015-11-18 729873 ENSG00000274611 OTTHUMG00000188487 uc032fha.2 NM_001123391 CCDS45658 Q8IZP1 "12604796|12359748|16863688" 607741 HGNC:19031 "ENST00000620215.3|NM_001123391.4" +HGNC:27011 TBC1D3B TBC1 domain family member 3B protein-coding gene gene with protein product Approved 17q12 17q12 PRC17 TBC1D3I "TBC1 domain family, member 3I|TBC1 domain family, member 3B" 2005-04-28 2015-11-18 2015-11-18 414059 ENSG00000274808 OTTHUMG00000188417 uc060efr.1 AF540953 NM_001001417 CCDS42300 A6NDS4 "12359748|16863688" 610144 HGNC:27011 "ENST00000611257.5|NM_001001417.7" +HGNC:24889 TBC1D3C TBC1 domain family member 3C protein-coding gene gene with protein product Approved 17q12 17q12 MGC44903 TBC1 domain family, member 3C 2005-04-28 2015-11-18 2015-11-18 414060 ENSG00000278299 OTTHUMG00000188484 uc032ffp.2 BC033670 NM_001001418 CCDS74045 Q6IPX1 "12359748|16863688" 610806 HGNC:24889 "ENST00000622206.2|NM_001001418.6" +HGNC:28944 TBC1D3D TBC1 domain family member 3D protein-coding gene gene with protein product Approved 17q12 17q12 TBC1 domain family, member 3D 2006-05-02 2015-11-18 2020-04-20 101060389 ENSG00000274419 OTTHUMG00000188483 NM_001291465 CCDS74044 A0A087WVF3 16863688 610807 HGNC:28944 +HGNC:27071 TBC1D3E TBC1 domain family member 3E protein-coding gene gene with protein product Approved 17q12 17q12 TBC1 domain family, member 3E 2006-05-02 2015-11-18 2015-11-18 102723859 ENSG00000278599 OTTHUMG00000188486 NM_001291466 CCDS77009 A0A087X179 16863688 610808 HGNC:27071 "ENST00000621587.2|NM_001291466.2" +HGNC:18257 TBC1D3F TBC1 domain family member 3F protein-coding gene gene with protein product Approved 17q12 17q12 TBC1 domain family, member 3F 2006-05-03 2015-11-18 2015-11-18 84218 ENSG00000275954 OTTHUMG00000188428 uc032fdb.2 NM_032258.2 A6NER0 16863688 610809 HGNC:18257 +HGNC:29860 TBC1D3G TBC1 domain family member 3G protein-coding gene gene with protein product Approved 17q12 17q12 TBC1 domain family, member 3G 2006-05-02 2015-11-18 2020-04-20 101060321 ENSG00000260287 OTTHUMG00000188426 uc032fcb.2 NM_001291462 CCDS74040 Q6DHY5 16863688 610810 HGNC:29860 "ENST00000569055.2|NM_001291462.2" +HGNC:30708 TBC1D3H TBC1 domain family member 3H protein-coding gene gene with protein product Approved 17q12 17q12 TBC1 domain family, member 3H 2006-05-02 2015-11-18 2015-11-18 729877 ENSG00000274226 OTTHUMG00000188427 uc002hmc.5 NM_001159332 CCDS45653 P0C7X1 16863688 610811 HGNC:30708 "ENST00000610350.4|NM_001123392.4" +HGNC:32709 TBC1D3I TBC1 domain family member 3I protein-coding gene gene with protein product Approved 17q12 17q12 TBC1 domain family, member 3I 2006-05-03 2015-11-18 2020-04-20 102724862 ENSG00000274933 OTTHUMG00000188424 NM_001291463 CCDS74039 A0A087WXS9 HGNC:32709 +HGNC:51247 TBC1D3JP TBC1 domain family member 3J, pseudogene pseudogene pseudogene Approved 17q12 17q12 TBC1D3J "TBC1 domain family, member 3J|TBC1 domain family member 3J" 2014-10-08 2021-03-05 2021-03-05 2021-03-05 100510707 ENSG00000274658 OTTHUMG00000188429 NG_070952 HGNC:51247 +HGNC:51245 TBC1D3K TBC1 domain family member 3K protein-coding gene gene with protein product Approved 17q12 17q12 TBC1 domain family, member 3K 2014-10-08 2015-11-18 2015-11-18 101060351 ENSG00000273513 OTTHUMG00000188481 NM_001291464 CCDS74042 A0A087X1G2 HGNC:51245 +HGNC:51246 TBC1D3L TBC1 domain family member 3L protein-coding gene gene with protein product Approved 17q12 17q12 TBC1 domain family, member 3L 2014-10-08 2015-11-18 2015-11-18 101060376 ENSG00000274512 OTTHUMG00000188482 NM_001291459 CCDS74043 B9A6J9 HGNC:51246 "ENST00000612727.5|NM_001369500.1" +HGNC:27445 TBC1D3P1 TBC1 domain family member 3 pseudogene 1 pseudogene pseudogene Approved 17q23.1 17q23.1 TBC1 domain family, member 3 pseudogene 1 2006-05-02 2015-11-18 2015-11-18 400609 ENSG00000238283 OTTHUMG00000179980 NG_005461 PGOHUM00000294166 HGNC:27445 +HGNC:42362 TBC1D3P1-DHX40P1 TBC1D3P1-DHX40P1 readthrough, transcribed pseudogene other readthrough Approved 17q23.1 17q23.1 TBC1D3P1-DHX40P1 readthrough (non-protein coding) 2011-07-06 2016-02-03 2016-02-03 653645 ENSG00000267104 OTTHUMG00000179977 uc002iyf.3 NR_002924 HGNC:42362 +HGNC:27783 TBC1D3P2 TBC1 domain family member 3 pseudogene 2 pseudogene pseudogene Approved 17q23.2 17q23.2 TBC1 domain family, member 3 pseudogene 2 2006-05-02 2015-11-18 2015-11-18 440452 ENSG00000188755 OTTHUMG00000179160 NR_027486 PGOHUM00000294180 HGNC:27783 +HGNC:32408 TBC1D3P3 TBC1 domain family member 3 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 USP6P1 "ubiquitin specific peptidase 6 pseudogene 1|TBC1 domain family, member 3 pseudogene 3" 2005-12-15 2011-11-08 2015-11-18 2015-11-18 653017 ENSG00000235203 OTTHUMG00000130732 NG_032193 PGOHUM00000256804 HGNC:32408 +HGNC:32409 TBC1D3P4 TBC1 domain family member 3 pseudogene 4 pseudogene pseudogene Approved 17p11.2 17p11.2 USP6P2 "ubiquitin specific peptidase 6 pseudogene 2|TBC1 domain family, member 3 pseudogene 4" 2005-12-15 2011-11-08 2015-11-18 2020-04-20 100631253 ENSG00000204471 OTTHUMG00000059093 NG_029286 PGOHUM00000263426 HGNC:32409 +HGNC:43567 TBC1D3P5 TBC1 domain family member 3 pseudogene 5 pseudogene pseudogene Approved 17q11.2 17q11.2 TBC1 domain family, member 3 pseudogene 5 2011-11-08 2015-11-18 2016-10-05 440419 ENSG00000266433 OTTHUMG00000179156 NR_033892 HGNC:43567 +HGNC:43568 TBC1D3P6 TBC1 domain family member 3 pseudogene 6 pseudogene pseudogene Approved 1p36.13 01p36.13 TBC1 domain family, member 3 pseudogene 6 2011-11-08 2015-11-18 2015-11-18 101928566 ENSG00000224966 OTTHUMG00000009379 PGOHUM00000296229 HGNC:43568 +HGNC:43569 TBC1D3P7 TBC1 domain family member 3 pseudogene 7 pseudogene pseudogene Approved 17q21.2 17q21.2 TBC1 domain family, member 3 pseudogene 7 2011-11-08 2015-11-18 2015-11-18 106480773 ENSG00000233014 OTTHUMG00000133669 NG_045655 HGNC:43569 +HGNC:19165 TBC1D4 TBC1 domain family member 4 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 "KIAA0603|AS160|DKFZp779C0666" Akt substrate of 160 kDa TBC1 domain family, member 4 2002-08-29 2015-11-18 2015-11-18 9882 ENSG00000136111 OTTHUMG00000017088 uc001vjl.3 AB011175 NM_014832 "CCDS66564|CCDS41901|CCDS66563" O60343 "11829485|11994271|15304337" MGI:2429660 RGD:1561609 612465 478194 HGNC:19165 "ENST00000377636.8|NM_014832.5" +HGNC:19166 TBC1D5 TBC1 domain family member 5 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 KIAA0210 TBC1 domain family, member 5 2002-08-29 2015-11-18 2015-11-18 9779 ENSG00000131374 OTTHUMG00000155488 uc003cbf.3 D86965 NM_014744 "CCDS33714|CCDS46770" Q92609 19531583 MGI:1919488 RGD:1561626 615740 HGNC:19166 +HGNC:21066 TBC1D7 TBC1 domain family member 7 protein-coding gene gene with protein product Approved 6p24.1 06p24.1 "dJ257A7.3|FLJ32666" TS complex subunit 3 TBC1 domain family, member 7 TSC complex 1497 2003-05-14 2015-11-18 2016-10-05 51256 ENSG00000145979 OTTHUMG00000014272 uc063lxp.1 AF151073 NM_016495 "CCDS58995|CCDS47376|CCDS4523|CCDS83062" Q9P0N9 "11042152|17646400|26893383" MGI:1914296 RGD:1307661 612655 371601 HGNC:21066 "ENST00000379300.8|NM_016495.6" HGNC:21066 +HGNC:17791 TBC1D8 TBC1 domain family member 8 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "HBLP1|VRP|AD3|GRAMD8" "BUB2-like protein 1|vascular Rab-GAP/TBC-containing protein" TBC1 domain family, member 8 (with GRAM domain) GRAM domain containing 1146 2003-05-19 2015-11-17 2016-10-05 11138 ENSG00000204634 OTTHUMG00000153040 uc010fiv.4 AB024057 NM_007063 "CCDS46375|CCDS82486" O95759 10373574 MGI:1927225 RGD:1595491 HGNC:17791 "ENST00000409318.2|NM_001330348.2" +HGNC:52782 TBC1D8-AS1 TBC1D8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q11.2 02q11.2 TBC1 domain family member 8 antisense RNA 1 Antisense RNAs 1987 2016-12-09 2019-12-13 2019-12-13 100506286 ENSG00000272902 OTTHUMG00000186030 NR_135594 HGNC:52782 +HGNC:24715 TBC1D8B TBC1 domain family member 8B protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "FLJ20298|RP11-321G1.1|GRAMD8B" TBC1 domain family, member 8B (with GRAM domain) "EF-hand domain containing|GRAM domain containing" "863|1146" 2006-07-12 2015-11-17 2020-04-02 54885 ENSG00000133138 OTTHUMG00000022152 uc004emo.4 AK123957 NM_017752 "CCDS14523|CCDS14522" Q0IIM8 8889548 MGI:1918101 RGD:1563084 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TBC1D8B 301027 HGNC:24715 "ENST00000357242.10|NM_017752.3" HGNC:24715 +HGNC:21710 TBC1D9 TBC1 domain family member 9 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "KIAA0882|MDR1|GRAMD9" TBC1 domain family, member 9 (with GRAM domain) "EF-hand domain containing|GRAM domain containing" "863|1146" 2006-01-17 2015-11-17 2016-10-05 23158 ENSG00000109436 OTTHUMG00000161405 uc010ioj.4 AB020689 NM_015130 CCDS47136 Q6ZT07 12970790 MGI:1918560 RGD:1308221 618035 HGNC:21710 "ENST00000442267.3|NM_015130.3" +HGNC:29097 TBC1D9B TBC1 domain family member 9B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "KIAA0676|GRAMD9B" TBC1 domain family, member 9B (with GRAM domain) "EF-hand domain containing|GRAM domain containing" "863|1146" 2006-07-12 2015-11-17 2015-11-17 23061 ENSG00000197226 OTTHUMG00000130911 uc003mli.4 AB014576 NM_015043 "CCDS43408|CCDS4450" Q66K14 9734811 MGI:1924045 RGD:1310147 618039 HGNC:29097 "ENST00000355235.8|NM_015043.4" +HGNC:23609 TBC1D10A TBC1 domain family member 10A protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "EPI64|AC004997.C22.2" EBP50-PDZ interactor of 64 kD TBC1D10 "TBC1 domain family, member 10|TBC1 domain family, member 10A" 2004-01-05 2005-03-10 2015-11-18 2015-11-18 83874 ENSG00000099992 OTTHUMG00000150924 uc003ahk.5 AF331038 NM_031937 "CCDS56227|CCDS13874" Q9BXI6 "11285285|20404108" MGI:2144164 RGD:1311641 610020 HGNC:23609 "ENST00000215790.12|NM_031937.3" +HGNC:24510 TBC1D10B TBC1 domain family member 10B protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "DKFZP434P1750|Rab27A-GAPbeta|FLJ13130|EPI64B" TBC1 domain family, member 10B 2005-03-10 2015-11-18 2015-11-18 26000 ENSG00000169221 OTTHUMG00000132396 uc002dxu.3 BC063112 NM_015527 CCDS10676 Q4KMP7 20404108 MGI:1915699 RGD:1309191 613620 HGNC:24510 "ENST00000409939.8|NM_015527.4" +HGNC:24702 TBC1D10C TBC1 domain family member 10C protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "FLJ00332|Carabin|EPI64C" TBC1 domain family, member 10C 2005-03-10 2015-11-18 2016-10-05 374403 ENSG00000175463 OTTHUMG00000167139 uc058eft.1 BC035630 NM_198517 "CCDS58150|CCDS8162" Q8IV04 "17230191|20404108" MGI:1922072 RGD:1311490 610831 HGNC:24702 "ENST00000542590.2|NM_001369496.1" +HGNC:29082 TBC1D12 TBC1 domain family member 12 protein-coding gene gene with protein product Approved 10q23.33 10q23.33 KIAA0608 TBC1 domain family, member 12 2004-05-27 2015-11-18 2015-11-18 23232 ENSG00000108239 OTTHUMG00000018794 uc001kjr.3 AB011180 NM_015188 CCDS41553 O60347 9628581 MGI:2384803 RGD:9377071 HGNC:29082 "ENST00000225235.5|NM_015188.2" +HGNC:25571 TBC1D13 TBC1 domain family member 13 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 FLJ10743 TBC1 domain family, member 13 2004-01-06 2015-11-18 2016-10-05 54662 ENSG00000107021 OTTHUMG00000020760 uc010myj.5 AK001605 NM_018201 "CCDS6911|CCDS69677" Q9NVG8 22762500 MGI:2385326 RGD:1591937 616218 HGNC:25571 "ENST00000372648.10|NM_018201.5" +HGNC:29246 TBC1D14 TBC1 domain family member 14 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 KIAA1322 TBC1 domain family, member 14 2004-01-30 2015-11-18 2016-02-22 57533 ENSG00000132405 OTTHUMG00000090493 uc011bwg.2 AL833868 NM_020773 "CCDS75104|CCDS82909|CCDS3394|CCDS47006" Q9P2M4 "10718198|26711178" MGI:1098708 RGD:1309993 614855 HGNC:29246 "ENST00000409757.9|NM_020773.3" +HGNC:25694 TBC1D15 TBC1 domain family member 15 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "FLJ12085|DKFZp761D0223" TBC1 domain family, member 15 2004-02-04 2015-11-18 2016-10-05 64786 ENSG00000121749 OTTHUMG00000158553 uc001swv.4 AL157464 NM_022771 "CCDS53814|CCDS31858" Q8TC07 16055087 MGI:1913937 RGD:1307920 612662 HGNC:25694 "ENST00000485960.7|NM_001146213.3" +HGNC:28356 TBC1D16 TBC1 domain family member 16 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "MGC25062|FLJ20748" TBC1 domain family, member 16 2004-02-04 2015-11-18 2020-04-01 125058 ENSG00000167291 OTTHUMG00000177489 uc002jxj.5 AL157485 NM_019020 "CCDS62353|CCDS11766|CCDS62351|CCDS62352" Q8TBP0 23019362 MGI:2652878 RGD:1588560 616637 HGNC:28356 "ENST00000310924.7|NM_019020.4" +HGNC:25699 TBC1D17 TBC1 domain family member 17 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FLJ12168 TBC1 domain family, member 17 MicroRNA protein coding host genes 1691 2004-02-04 2015-11-18 2020-04-01 79735 ENSG00000104946 OTTHUMG00000183376 uc002pqo.4 AK090606 NM_024682 "CCDS12785|CCDS54294" Q9HA65 22854040 MGI:2449973 RGD:1309686 616659 HGNC:25699 "ENST00000221543.10|NM_024682.3" +HGNC:25624 TBC1D19 TBC1 domain family member 19 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 FLJ11082 TBC1 domain family, member 19 2005-01-05 2015-11-18 2015-11-18 55296 ENSG00000109680 OTTHUMG00000097797 uc003gsf.5 AK001944 NM_018317 "CCDS75115|CCDS3439" Q8N5T2 MGI:1914499 RGD:1304958 HGNC:25624 "ENST00000264866.9|NM_018317.4" +HGNC:16133 TBC1D20 TBC1 domain family member 20 protein-coding gene gene with protein product Approved 20p13 20p13 dJ852M4.2 C20orf140 "chromosome 20 open reading frame 140|TBC1 domain family, member 20" 2001-07-17 2005-01-05 2015-11-18 2015-11-18 128637 ENSG00000125875 OTTHUMG00000031637 uc002wds.4 AK055573 NM_144628 CCDS13002 Q96BZ9 17901050 MGI:1914481 RGD:1303293 611663 376959 HGNC:16133 "ENST00000354200.5|NM_144628.4" HGNC:16133 +HGNC:28536 TBC1D21 TBC1 domain family member 21 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "MGC34741|MgcRabGAP" male germ cell-specific expressed, containing a RabGAP domain TBC1 domain family, member 21 2005-01-05 2015-11-18 2016-10-05 161514 ENSG00000167139 OTTHUMG00000137594 uc002avz.5 BC033516 NM_153356 "CCDS10252|CCDS66822" Q8IYX1 21128978 MGI:1921536 RGD:1310243 HGNC:28536 "ENST00000300504.7|NM_153356.3" +HGNC:1309 TBC1D22A TBC1 domain family member 22A protein-coding gene gene with protein product Approved 22q13.31 22q13.31 C22orf4 "chromosome 22 open reading frame 4|TBC1 domain family, member 22A" 2000-03-29 2005-01-05 2015-11-18 2020-09-17 25771 ENSG00000054611 OTTHUMG00000150332 uc003bib.5 AK125705 NM_014346 "CCDS74877|CCDS63511|CCDS63512|CCDS14078" Q8WUA7 MGI:1289265 RGD:1306588 616879 HGNC:1309 "ENST00000337137.9|NM_014346.5" +HGNC:51221 TBC1D22A-AS1 TBC1D22A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Antisense RNAs 1987 2014-08-08 2014-08-08 642757 ENSG00000280080 AK057318 NR_122047 TBC1D22A-AS1 HGNC:51221 +HGNC:55388 TBC1D22A-DT TBC1D22A divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.31 22q13.31 Divergent transcripts 1990 2020-12-10 2020-12-10 119863861 ENSG00000260708 +HGNC:21602 TBC1D22B TBC1 domain family member 22B protein-coding gene gene with protein product Approved 6p21.2 06p21.2 "FLJ20337|dJ744I24.2" C6orf197 "chromosome 6 open reading frame 197|TBC1 domain family, member 22B" 2003-06-25 2005-01-05 2015-11-18 2015-11-18 55633 ENSG00000065491 OTTHUMG00000014619 uc003onn.3 AK096340 NM_017772 CCDS4832 Q9NU19 MGI:2681867 RGD:1564987 616880 HGNC:21602 "ENST00000373491.3|NM_017772.4" +HGNC:25622 TBC1D23 TBC1 domain family member 23 protein-coding gene gene with protein product Approved 3q12.1-q12.2 03q12.1-q12.2 FLJ11046 TBC1 domain family, member 23 2006-01-06 2015-11-18 2018-02-13 55773 ENSG00000036054 OTTHUMG00000159067 uc003dts.5 AK001908 NM_018309 "CCDS2936|CCDS56265" Q9NUY8 "22312129|29084197" MGI:1914831 RGD:1307925 617687 471188 HGNC:25622 "ENST00000394144.9|NM_001199198.3" HGNC:25622 +HGNC:29203 TBC1D24 TBC1 domain family member 24 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA1171|TLDC6|DFNA65" "TBC/LysM-associated domain containing 6|skywalker homolog (Drosophila)" DFNB86 "deafness, autosomal recessive 86|TBC1 domain family, member 24" TLDc domain containing 2055 2006-04-07 2015-11-18 2020-04-01 57465 ENSG00000162065 OTTHUMG00000177150 uc002cqk.4 AB032997 NM_020705 "CCDS42107|CCDS55980" Q9ULP9 "10574461|24387994|24729539" MGI:2443456 RGD:1306143 613577 239943 HGNC:29203 "ENST00000646147.1|NM_001199107.2" HGNC:29203 +HGNC:8092 TBC1D25 TBC1 domain family member 25 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 OATL1 "ornithine aminotransferase-like 1|TBC1 domain family, member 25" 1991-06-06 2007-01-12 2015-11-18 2015-11-18 4943 ENSG00000068354 OTTHUMG00000024123 uc004dka.2 L08240 NM_002536 CCDS35242 Q3MII6 21383079 MGI:2444862 RGD:1559711 311240 HGNC:8092 "ENST00000376771.9|NM_002536.4" +HGNC:28745 TBC1D26 TBC1 domain family member 26 protein-coding gene gene with protein product Approved 17p12 17p12 MGC51025 TBC1 domain family, member 26 2008-01-22 2015-11-18 2016-10-05 353149 ENSG00000214946 OTTHUMG00000059071 uc060bom.1 NM_178571 CCDS42265 Q86UD7 11347906 HGNC:28745 "ENST00000437605.4|NM_001388465.1" +HGNC:41211 TBC1D26-AS1 TBC1D26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p12 17p12 Antisense RNAs 1987 2020-03-27 2020-03-27 105371560 ENSG00000233002 OTTHUMG00000059148 XR_001753084 +HGNC:28104 TBC1D27P TBC1 domain family member 27, pseudogene pseudogene pseudogene Approved 17p11.2 17p11.2 TBC1D27 TBC1 domain family member 27 2008-01-22 2017-09-28 2017-09-28 2020-06-15 96597 ENSG00000128438 OTTHUMG00000059260 AK024458 NR_147084 HGNC:28104 +HGNC:26858 TBC1D28 TBC1 domain family member 28 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 FLJ40244 TBC1 domain family, member 28 2008-01-22 2015-11-18 2015-11-18 254272 ENSG00000189375 OTTHUMG00000059054 uc002gud.2 NM_001039397 CCDS42273 Q2M2D7 HGNC:26858 +HGNC:24509 TBC1D29P TBC1 domain family member 29, pseudogene pseudogene pseudogene Approved 17q11.2 17q11.2 DKFZP434O047 TBC1D29 "TBC1 domain family, member 29|TBC1 domain family member 29" 2008-01-22 2018-08-09 2018-08-09 2021-10-07 26083 ENSG00000266733 OTTHUMG00000178857 uc002hfh.4 BC096718 NR_172920 Q9UFV1 12618308 HGNC:24509 +HGNC:29164 TBC1D30 TBC1 domain family member 30 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 KIAA0984 TBC1 domain family, member 30 2008-01-22 2015-11-18 2018-11-19 23329 ENSG00000111490 OTTHUMG00000168824 uc010sst.3 AB023201 NM_015279 "CCDS81708|CCDS53813" Q9Y2I9 "12618308|17646400" MGI:1921944 RGD:1305255 615077 HGNC:29164 "ENST00000539867.6|NM_015279.2" +HGNC:30888 TBC1D31 TBC1 domain family member 31 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "MGC21654|Gm85" WDR67 "WD repeat domain 67|TBC1 domain family, member 31" WD repeat domain containing 362 2005-05-26 2013-07-10 2015-11-18 2021-05-18 93594 ENSG00000156787 OTTHUMG00000165081 AK094612 NM_145647 "CCDS83320|CCDS47916|CCDS6338" Q96DN5 33934390 MGI:2684931 RGD:1587370 HGNC:30888 "ENST00000287380.6|NM_145647.4" +HGNC:21485 TBC1D32 TBC1 domain family member 32 protein-coding gene gene with protein product Approved 6q22.31 06q22.31 "FLJ30899|dJ310J6.1|FLJ34235|bA57L9.1|BROMI" broad-minded homolog "C6orf171|C6orf170" "chromosome 6 open reading frame 171|chromosome 6 open reading frame 170|TBC1 domain family, member 32" Armadillo like helical domain containing 1492 2003-06-17 2013-07-10 2015-11-18 2015-11-18 221322 ENSG00000146350 OTTHUMG00000015474 AK055461 NM_152730 CCDS43501 Q96NH3 "20159594|24285566" MGI:2442827 RGD:2323599 615867 471190 HGNC:21485 "ENST00000398212.7|NM_152730.6" HGNC:21485 +HGNC:11579 TBCA tubulin folding cofactor A protein-coding gene gene with protein product Approved 5q14.1 05q14.1 tubulin-specific chaperone a 1998-07-31 2006-11-21 2015-08-26 6902 ENSG00000171530 OTTHUMG00000102173 uc003kfh.2 AF038952 NM_004607 "CCDS4040|CCDS78024|CCDS75263" O75347 "9653160|8706133" MGI:107549 RGD:1311538 610058 HGNC:11579 "ENST00000380377.9|NM_004607.3" +HGNC:42630 TBCAP1 tubulin folding cofactor A pseudogene 1 pseudogene pseudogene Approved Xp21.1 Xp21.1 2011-08-10 2011-08-10 494540 ENSG00000226781 OTTHUMG00000021335 NG_004790 PGOHUM00000241692 HGNC:42630 +HGNC:42631 TBCAP2 tubulin folding cofactor A pseudogene 2 pseudogene pseudogene Approved 1p36.21 01p36.21 2011-08-10 2011-08-10 494541 ENSG00000235829 OTTHUMG00000037853 NG_004791 PGOHUM00000256861 HGNC:42631 +HGNC:42632 TBCAP3 tubulin folding cofactor A pseudogene 3 pseudogene pseudogene Approved 4q23 04q23 2011-08-10 2014-11-18 101290501 ENSG00000249055 OTTHUMG00000161088 NG_033171 HGNC:42632 +HGNC:1989 TBCB tubulin folding cofactor B protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "CG22|CKAPI" CKAP1 "cytoskeleton-associated protein 1|cytoskeleton associated protein 1" 1995-09-15 2006-11-22 2006-11-22 2016-10-05 1155 ENSG00000105254 OTTHUMG00000048143 uc002odg.2 AF013488 NM_001281 "CCDS74344|CCDS12488" Q99426 8978778 MGI:1913661 RGD:1309965 601303 HGNC:1989 "ENST00000221855.8|NM_001281.3" +HGNC:11580 TBCC tubulin folding cofactor C protein-coding gene gene with protein product Approved 6p21.1 06p21.1 CFC tubulin-specific chaperone c 1998-07-31 2006-11-21 2015-08-26 6903 ENSG00000124659 OTTHUMG00000014704 uc003osl.4 U61234 NM_003192 CCDS4872 Q15814 "8706133|11847227" MGI:1919976 RGD:1306756 602971 HGNC:11580 "ENST00000372876.2|NM_003192.3" +HGNC:25546 TBCCD1 TBCC domain containing 1 protein-coding gene gene with protein product Approved 3q27.3 03q27.3 FLJ10560 2006-03-02 2018-06-21 55171 ENSG00000113838 OTTHUMG00000156613 uc011bry.3 BC025748 NM_018138 "CCDS75061|CCDS3276" Q9NVR7 20168327 MGI:1917823 RGD:1309604 HGNC:25546 "ENST00000338733.10|NM_018138.5" HGNC:25546 +HGNC:11581 TBCD tubulin folding cofactor D protein-coding gene gene with protein product Approved 17q25.3 17q25.3 tubulin-specific chaperone d Armadillo like helical domain containing 1492 1998-07-31 2006-11-21 2021-05-26 6904 ENSG00000141556 OTTHUMG00000177878 uc002kfz.4 BC003094 NM_005993 CCDS45818 Q9BTW9 MGI:1919686 RGD:2320148 604649 471192 HGNC:11581 "ENST00000355528.9|NM_005993.5" HGNC:11581 +HGNC:11582 TBCE tubulin folding cofactor E protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "KCS1|pac2" "KCS|HRD" "tubulin-specific chaperone e|Kenny-Caffey syndrome|hypoparathyroidism, growth and mental retardation, and dysmorphism" 1998-07-31 2006-11-21 2021-05-26 6905 ENSG00000284770 OTTHUMG00000039987 uc001hwz.2 U61232 NM_003193 "CCDS73052|CCDS1605|CCDS86060" Q15813 "8706133|9806825|12389028" MGI:1917680 RGD:1305533 604934 119938 HGNC:11582 "ENST00000642610.2|NM_003193.5" HGNC:11582 +HGNC:28115 TBCEL tubulin folding cofactor E like protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC10233 LRRC35 "leucine rich repeat containing 35|tubulin-specific chaperone e-like" 2005-03-13 2006-11-21 2016-06-17 2020-03-09 219899 ENSG00000154114 OTTHUMG00000166061 uc001pxo.4 BC020501 NM_152715 CCDS31692 Q5QJ74 "15728251|24098140" MGI:1925543 RGD:1308880 610451 HGNC:28115 "ENST00000683345.1|NM_001363644.2" +HGNC:54857 TBCEL-TECTA TBCEL-TECTA readthrough other readthrough Approved 11q23.3 11q23.3 2020-03-09 2020-03-09 116804918 ENSG00000285509 NM_001378761 +HGNC:28261 TBCK TBC1 domain containing kinase protein-coding gene gene with protein product Approved 4q24 04q24 "MGC16169|HSPC302" 2009-08-26 2021-05-26 93627 ENSG00000145348 OTTHUMG00000131214 uc062yuq.1 NM_033115 "CCDS54788|CCDS3673|CCDS54789" Q8TEA7 12471243 MGI:2445052 RGD:1307816 LRG_836|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_836.xml 616899 objectId:2236 HGNC:28261 "ENST00000394708.7|NM_001163435.3" HGNC:28261 +HGNC:53943 TBILA TGF-beta induced lncRNA non-coding RNA RNA, long non-coding Approved 3q13.2 03q13.2 Long non-coding RNAs with non-systematic symbols 1992 2018-06-20 2018-06-20 112806053 ENSG00000261488 OTTHUMG00000175748 NR_157393 29908210 HGNC:53943 +HGNC:11584 TBK1 TANK binding kinase 1 protein-coding gene gene with protein product Approved 12q14.2 12q14.2 NAK TANK-binding kinase 1 I kappa B kinases 1802 2000-06-08 2016-03-14 2021-05-26 29110 ENSG00000183735 OTTHUMG00000168796 uc001ssc.3 AF191838 NM_013254 CCDS8968 Q9UHD2 "10581243|10783893" MGI:1929658 RGD:1588588 LRG_1306|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1306.xml 604834 318865 objectId:2237 HGNC:11584 "ENST00000331710.10|NM_013254.4" HGNC:11584 +HGNC:30140 TBKBP1 TBK1 binding protein 1 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "ProSAPiP2|KIAA0775" 2005-12-13 2019-08-20 9755 ENSG00000198933 OTTHUMG00000178286 uc002ilu.4 AB018318 NM_014726 CCDS45722 A7MCY6 "14743216|19481056" MGI:1920424 RGD:631328 608476 HGNC:30140 "ENST00000578982.6|NM_001394755.1" +HGNC:11585 TBL1X transducin beta like 1 X-linked protein-coding gene gene with protein product Approved Xp22.31-p22.2 Xp22.31-p22.2 EBI TBL1 "transducin (beta)-like 1|transducin (beta)-like 1X-linked" "WD repeat domain containing|NCoR/SMRT transcriptional repression complex subunits" "362|1875" 1997-06-09 2002-05-24 2017-10-10 2018-02-13 6907 ENSG00000101849 OTTHUMG00000021117 uc010ndr.3 Y12781 NM_005647 "CCDS14133|CCDS48078" O60907 10330347 MGI:1336172 RGD:1563868 300196 HGNC:11585 "ENST00000645353.2|NM_005647.4" +HGNC:29529 TBL1XR1 TBL1X receptor 1 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "IRA1|FLJ12894|TBLR1|C21|DC42" "F-box-like/WD repeat-containing protein TBL1XR1|TBL1-related protein" "transducin (beta)-like 1X-linked receptor 1|transducin beta like 1 X-linked receptor 1" "WD repeat domain containing|NCoR/SMRT transcriptional repression complex subunits" "362|1875" 2004-08-09 2019-10-17 2022-04-11 79718 ENSG00000177565 OTTHUMG00000157140 uc003fiw.5 AK022956 NM_024665 CCDS46961 Q9BZK7 "11063877|11931768" MGI:2441730 RGD:1560053 TBL1XR1 608628 410642 HGNC:29529 "ENST00000457928.7|NM_024665.7" HGNC:29529 +HGNC:41243 TBL1XR1-AS1 TBL1XR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.32 03q26.32 TBL1XR1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874217 ENSG00000231310 OTTHUMG00000157220 uc062qbv.1 NR_174966 TBL1XR1-AS1 +HGNC:18502 TBL1Y transducin beta like 1 Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 TBL1 transducin (beta)-like 1, Y-linked WD repeat domain containing 362 2002-05-22 2017-10-10 2017-10-10 90665 ENSG00000092377 OTTHUMG00000035299 uc004frb.3 AF332220 NM_033284 CCDS14779 Q9BQ87 MGI:1336172 400033 HGNC:18502 "ENST00000383032.6|NM_033284.2" HGNC:18502 +HGNC:23979 TBL1YP1 transducin beta like 1 Y-linked pseudogene 1 pseudogene pseudogene Approved Yq11.223 Yq11.223 transducin (beta)-like 1, Y-linked pseudogene 1 2009-12-17 2017-10-10 2017-10-10 286555 ENSG00000225624 OTTHUMG00000036543 NG_002819 12815422 PGOHUM00000234006 HGNC:23979 +HGNC:11586 TBL2 transducin beta like 2 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "WS-betaTRP|WBSCR13|DKFZP43N024" Williams-Beuren syndrome chromosome region 13 transducin (beta)-like 2 WD repeat domain containing 362 1999-12-14 2016-07-27 2016-07-27 26608 ENSG00000106638 OTTHUMG00000023427 uc003tyh.5 AF056183 NM_012453 CCDS5551 Q9Y4P3 "9860302|10575226" MGI:1351652 RGD:1595038 605842 119944 HGNC:11586 "ENST00000305632.11|NM_012453.4" +HGNC:11587 TBL3 transducin beta like 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "SAZD|UTP13" transducin (beta)-like 3 "WD repeat domain containing|UTPb subcomplex" "362|1225" 1999-12-14 2016-03-22 2016-03-22 10607 ENSG00000183751 OTTHUMG00000128710 uc002cnu.2 U02609 NM_006453 CCDS10453 Q12788 8307582 MGI:2384863 RGD:1305142 605915 HGNC:11587 "ENST00000568546.6|NM_006453.3" +HGNC:11588 TBP TATA-box binding protein protein-coding gene gene with protein product Approved 6q27 06q27 "TFIID|TBP1" Spinocerebellar ataxia 17 "GTF2D1|SCA17" "General transcription factors|General transcription factor IID complex subunits |General transcription factor IIIB complex subunits " "565|1878|1879" 1993-05-26 2015-11-20 2022-04-11 6908 ENSG00000112592 OTTHUMG00000016084 uc011ehf.3 M55654 NM_003194 "CCDS5315|CCDS55077" P20226 "2194289|11448935" MGI:101838 RGD:67398 600075 119948 HGNC:11588 "ENST00000392092.7|NM_003194.5" HGNC:11588 +HGNC:11589 TBPL1 TATA-box binding protein like 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "TLP|STUD|TRF2|TLF" TBP-like factor TBP-like 1 1999-08-20 2015-11-23 2015-11-23 9519 ENSG00000028839 OTTHUMG00000015609 uc003qel.4 AB020881 NM_001253676 CCDS5168 P62380 "10082669|10220372|15767669" MGI:1339946 RGD:1597456 605521 HGNC:11589 "ENST00000237264.9|NM_004865.4" +HGNC:19841 TBPL2 TATA-box binding protein like 2 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 "TRF3|TBP2" 2003-01-13 2015-11-20 2016-10-05 387332 ENSG00000182521 OTTHUMG00000140313 uc001xby.5 AY457923 NM_199047 CCDS9724 Q6SJ96 14634207 MGI:2684058 RGD:1596837 608964 HGNC:19841 +HGNC:11590 TBR1 T-box brain transcription factor 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "T-box, brain, 1|T-box, brain 1" T-box transcription factors 766 1999-12-14 2019-06-06 2021-05-26 10716 ENSG00000136535 OTTHUMG00000153888 uc002ubw.2 U49250 NM_006593 CCDS33310 Q16650 7619531 MGI:107404 RGD:1591773 604616 471194 HGNC:11590 "ENST00000389554.8|NM_006593.4" HGNC:11590 +HGNC:29551 TBRG1 transforming growth factor beta regulator 1 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "FLJ14621|TB-5|NIAM" nuclear interactor of ARF and MDM2 2004-02-23 2014-11-19 84897 ENSG00000154144 OTTHUMG00000153024 uc001qak.5 AK074140 NM_032811 CCDS8448 Q3YBR2 "7654366|17110379" MGI:1100877 RGD:1305123 610614 HGNC:29551 "ENST00000441174.8|NM_032811.3" +HGNC:17443 TBRG4 transforming growth factor beta regulator 4 protein-coding gene gene with protein product Approved 7p13 07p13 "Cpr2|KIAA0948|H_TD2522F11.8|FASTKD4" "FAST kinase domains 4|cell cycle progression 2 protein" "FASTK mitochondrial RNA binding family|Small nucleolar RNA protein coding host genes" "1538|1835" 2004-02-23 2014-11-19 9238 ENSG00000136270 OTTHUMG00000129247 uc003tmv.5 AB023165 NM_030900 "CCDS5501|CCDS5502" Q969Z0 9383053 MGI:1100868 RGD:1309737 611325 HGNC:17443 "ENST00000258770.8|NM_004749.4" +HGNC:11592 TBX1 T-box transcription factor 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 CATCH22 VCF "velocardiofacial syndrome|T-box 1" T-box transcription factors 766 1997-05-15 2019-06-06 2021-05-26 6899 ENSG00000184058 OTTHUMG00000150421 uc002zqa.2 AF012131 NM_080647 "CCDS13766|CCDS13767|CCDS13765" O43435 "9268629|23000736" MGI:98493 RGD:1307734 LRG_226|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_226.xml 602054 119953 HGNC:11592 "ENST00000649276.2|NM_001379200.1" HGNC:11592 +HGNC:11597 TBX2 T-box transcription factor 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 T-box 2 T-box transcription factors 766 1995-05-08 2019-06-06 2021-12-03 6909 ENSG00000121068 OTTHUMG00000156986 uc010wox.3 AB209378 NM_005994 CCDS11627 Q13207 8530034 MGI:98494 RGD:1311014 600747 269925 HGNC:11597 "ENST00000240328.4|NM_005994.4" HGNC:11597 +HGNC:50355 TBX2-AS1 TBX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q23.2 17q23.2 Antisense RNAs 1987 2014-04-17 2020-10-15 103689912 ENSG00000267280 OTTHUMG00000180076 AI927936 NR_125749 TBX2-AS1 HGNC:50355 +HGNC:11602 TBX3 T-box transcription factor 3 protein-coding gene gene with protein product Approved 12q24.21 12q24.21 "TBX3-ISO|XHL" UMS "ulnar mammary syndrome|T-box 3" T-box transcription factors 766 1997-06-18 2019-06-06 2021-05-26 6926 ENSG00000135111 OTTHUMG00000169586 uc001tvt.2 BC025258 "NM_016569|NM_005996" "CCDS9176|CCDS9175" O15119 8988164 MGI:98495 RGD:735203 TBX3 601621 119961 HGNC:11602 "ENST00000349155.7|NM_005996.4" HGNC:11602 +HGNC:55471 TBX3-AS1 TBX3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.21 12q24.21 Antisense RNAs 1987 2021-03-10 2021-03-10 105370000 ENSG00000257817 XR_007063471 +HGNC:11603 TBX4 T-box transcription factor 4 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 T-box 4 T-box transcription factors 766 1999-04-16 2019-06-06 2021-05-26 9496 ENSG00000121075 OTTHUMG00000180078 uc002izi.3 AF188703 NM_018488 "CCDS11629|CCDS82180" P57082 10945475 MGI:102556 RGD:1309057 LRG_1206|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1206.xml 601719 119966 HGNC:11603 "ENST00000644296.1|NM_001321120.2" HGNC:11603 +HGNC:11604 TBX5 T-box transcription factor 5 protein-coding gene gene with protein product Approved 12q24.21 12q24.21 HOS T-box 5 T-box transcription factors 766 1997-05-22 2019-06-06 2021-05-26 6910 ENSG00000089225 OTTHUMG00000166191 uc001tvp.4 U89353 NM_080717 "CCDS9173|CCDS9174" Q99593 "8988165|8054982" MGI:102541 RGD:1305702 LRG_670|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_670.xml 601620 119968 HGNC:11604 "ENST00000405440.7|NM_181486.4" HGNC:11604 +HGNC:27402 TBX5-AS1 TBX5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.21 12q24.21 TBX5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 255480 ENSG00000255399 OTTHUMG00000166190 uc058tqv.1 NR_038440 TBX5-AS1 HGNC:27402 +HGNC:11605 TBX6 T-box transcription factor 6 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 T-box 6 T-box transcription factors 766 1998-08-10 2019-06-06 2021-05-26 6911 ENSG00000149922 OTTHUMG00000132115 uc010veh.3 AJ007989 "NM_004608|NM_080758" CCDS10670 O95947 "9888994|9933572" MGI:102539 RGD:1307716 602427 332034 HGNC:11605 "ENST00000395224.7|NM_004608.4" HGNC:11605 +HGNC:11593 TBX10 T-box transcription factor 10 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 TBX13 TBX7 "T-box 7|T-box 10" T-box transcription factors 766 1997-10-24 2019-06-06 2019-06-06 347853 ENSG00000167800 OTTHUMG00000167291 uc001omp.3 AH006177 NM_005995 CCDS31621 O75333 9545502 MGI:1261436 RGD:1584144 604648 HGNC:11593 "ENST00000335385.4|NM_005995.5" +HGNC:11594 TBX15 T-box transcription factor 15 protein-coding gene gene with protein product Approved 1p12 01p12 TBX14 "T-box 14|T-box 15" T-box transcription factors 766 1998-08-26 2019-06-06 2021-05-26 6913 ENSG00000092607 OTTHUMG00000012263 uc001ehl.2 AK127536 NM_152380 "CCDS81360|CCDS30816" Q96SF7 9693034 MGI:1277234 RGD:1308094 604127 169905 HGNC:11594 "ENST00000369429.5|NM_001330677.2" HGNC:11594 +HGNC:11595 TBX18 T-box transcription factor 18 protein-coding gene gene with protein product Approved 6q14.3 06q14.3 T-box 18 T-box transcription factors 766 1999-02-01 2019-06-06 2021-05-26 9096 ENSG00000112837 OTTHUMG00000015129 uc003pkl.4 AJ010278 NM_001080508 CCDS34495 O95935 "9888994|16688725|23242162" MGI:1923615 RGD:1309856 604613 437168 HGNC:11595 "ENST00000369663.10|NM_001080508.3" HGNC:11595 +HGNC:52256 TBX18-AS1 TBX18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q14.3 06q14.3 Antisense RNAs 1987 2015-10-30 2015-10-30 102724201 ENSG00000228290 OTTHUMG00000015128 NR_125875 TBX18-AS1 HGNC:52256 +HGNC:11596 TBX19 T-box transcription factor 19 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "dj747L4.1|TPIT" TBS 19 T-box 19 T-box transcription factors 766 1999-02-01 2019-06-06 2021-05-26 9095 ENSG00000143178 OTTHUMG00000034648 uc001gfl.5 AJ010277 NM_005149 CCDS1272 O60806 9888994 MGI:1891158 RGD:1310145 604614 119955 HGNC:11596 "ENST00000367821.8|NM_005149.3" HGNC:11596 +HGNC:11598 TBX20 T-box transcription factor 20 protein-coding gene gene with protein product Approved 7p14.2 07p14.2 T-box 20 T-box transcription factors 766 2000-08-31 2019-06-06 2021-05-26 57057 ENSG00000164532 OTTHUMG00000099411 uc011kas.3 AJ237589 NM_020417 CCDS43568 Q9UMR3 10936053 MGI:1888496 RGD:1309396 LRG_755|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_755.xml 606061 237462 HGNC:11598 "ENST00000408931.4|NM_001077653.2" HGNC:11598 +HGNC:11599 TBX21 T-box transcription factor 21 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "TBLYM|T-bet" T-box 21 T-box transcription factors 766 2000-02-29 2019-06-06 2019-06-06 30009 ENSG00000073861 OTTHUMG00000178287 uc002ilv.1 AF093098 NM_013351 CCDS11514 Q9UL17 MGI:1888984 RGD:1308264 604895 HGNC:11599 "ENST00000177694.2|NM_013351.2" +HGNC:11600 TBX22 T-box transcription factor 22 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "CPX|CLPA" "cleft palate and/or ankyloglossia|T-box 22" T-box transcription factors 766 2000-05-05 2019-06-06 2021-05-26 50945 ENSG00000122145 OTTHUMG00000021901 uc010nmg.1 AL031000 NM_016954 CCDS14445 Q9Y458 "11559848|14729838" MGI:2389465 RGD:1589764 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TBX22 300307 119959 HGNC:11600 "ENST00000373296.8|NM_001109878.2" HGNC:11600 +HGNC:11601 TBX23P T-box transcription factor 23, pseudogene pseudogene pseudogene Approved 1q25 01q25 TBX23 "T-box 23|T-box 23, pseudogene" T-box transcription factors 766 2000-08-31 2005-10-11 2019-06-06 2019-06-06 57160 AL157899 +HGNC:11607 TBXA1R thromboxane A1 receptor other unknown Approved reserved reserved 1993-12-08 2019-06-28 6914 +HGNC:11608 TBXA2R thromboxane A2 receptor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Prostaglandin receptors 207 1991-08-08 2021-04-13 6915 ENSG00000006638 OTTHUMG00000180806 uc002lyg.3 NM_001060 "CCDS54198|CCDS42467" P21731 1825698 MGI:98496 RGD:3825 LRG_578|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_578.xml 188070 293114 objectId:346 HGNC:11608 "ENST00000375190.10|NM_001060.6" HGNC:11608 +HGNC:11609 TBXAS1 thromboxane A synthase 1 protein-coding gene gene with protein product Approved 7q34 07q34 "CYP5|CYP5A1|THAS|TXS|TXAS|TS" cytochrome P450, family 5, subfamily A, polypeptide 1 "thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)|thromboxane A synthase 1 (platelet)" Cytochrome P450 family 5 1004 1992-10-07 2015-11-26 2021-04-13 6916 ENSG00000059377 OTTHUMG00000157302 uc003vvh.4 L36085 NM_001061 CCDS55175 P24557 "1714723|8964509" MGI:98497 RGD:3826 "PharmVar Human Cytochrome P450 (CYP) Allele Nomenclature|https://www.pharmvar.org/gene/TBXAS1|LRG_579|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_579.xml" 274180 137959 objectId:1353 5.3.99.5 HGNC:11609 "ENST00000448866.7|NM_001061.7" HGNC:11609 +HGNC:11515 TBXT T-box transcription factor T protein-coding gene gene with protein product Approved 6q27 06q27 T "T, brachyury homolog (mouse)|T brachyury transcription factor" T-box transcription factors 766 1996-04-12 2017-12-12 2017-12-12 2021-05-26 6862 ENSG00000164458 OTTHUMG00000015991 uc003quu.4 AJ001699 NM_003181 "CCDS5290|CCDS59045" O15178 8963900 MGI:98472 RGD:1310141 601397 119908 HGNC:11515 "ENST00000366876.7|NM_001366285.2" HGNC:11515 +HGNC:19859 TC2N tandem C2 domains, nuclear protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "FLJ36557|Tac2-N|C2CD1" C2 calcium-dependent domain containing 1 "C14orf47|MTAC2D1" "chromosome 14 open reading frame 47|membrane targeting (tandem) C2 domain containing 1" Synaptotagmin like tandem C2 proteins 822 2002-11-27 2007-08-17 2007-08-17 2020-04-01 123036 ENSG00000165929 OTTHUMG00000171121 uc001xzv.6 AA243837 NM_152332 "CCDS9897|CCDS73679" Q8N9U0 11526914 MGI:1921663 RGD:1563876 619305 HGNC:19859 "ENST00000435962.7|NM_001128596.3" +HGNC:22201 TCAF1 TRPM8 channel associated factor 1 protein-coding gene gene with protein product Approved 7q35 07q35 "KIAA0738|GATD9A" FAM115A "family with sequence similarity 115, member A|TRPM8 channel-associated factor 1" Glutamine amidotransferase class 1 domain containing 1408 2007-08-16 2015-01-07 2016-03-15 2021-04-19 9747 ENSG00000198420 OTTHUMG00000157773 AB018281 NM_014719 "CCDS5886|CCDS56514" Q9Y4C2 "9872452|25559186" MGI:1914665 RGD:1565474 616251 HGNC:22201 "ENST00000479870.6|NM_014719.3" +HGNC:33604 TCAF1P1 TRPM8 channel associated factor 1 pseudogene 1 pseudogene pseudogene Approved 7q35 07q35 FAM115B "family with sequence similarity 115, member B|family with sequence similarity 115, member B (pseudogene)|TRPM8 channel-associated factor 1 pseudogene 1" 2007-08-16 2015-01-07 2016-03-15 2017-08-10 653199 ENSG00000223459 OTTHUMG00000022870 NG_008224 PGOHUM00000302990 HGNC:33604 +HGNC:26878 TCAF2 TRPM8 channel associated factor 2 protein-coding gene gene with protein product Approved 7q35 07q35 "FLJ40722|GATD9B" "FAM139A|FAM115C" "family with sequence similarity 139, member A|family with sequence similarity 115, member C|TRPM8 channel-associated factor 2" Glutamine amidotransferase class 1 domain containing 1408 2007-08-16 2015-01-07 2016-03-15 2021-04-19 285966 ENSG00000170379 OTTHUMG00000153232 AY167570 NM_173678 "CCDS34769|CCDS87559|CCDS47735" A6NFQ2 25559186 MGI:2385258 RGD:6487302 616252 HGNC:26878 "ENST00000684770.1|NM_001363538.2" +HGNC:53641 TCAF2C TRPM8 channel associated factor 2C other unknown Approved 7q35 07q35 2017-11-29 2019-06-28 100533814 ENSG00000283528 OTTHUMG00000191659 NG_028894 PGOHUM00000302464 HGNC:53641 +HGNC:33603 TCAF2P1 TRPM8 channel associated factor 2 pseudogene 1 pseudogene pseudogene Approved 7q35 07q35 "FLJ40722-like|TCAF2BP" "FAM139B|FAM115D" "family with sequence similarity 139, member B|family with sequence similarity 115, member D (pseudogene)|TRPM8 channel-associated factor 2 pseudogene 1" 2007-08-16 2015-01-07 2016-03-15 2017-08-10 653691 ENSG00000159860 OTTHUMG00000153235 NR_110549 PGOHUM00000302994 HGNC:33603 +HGNC:25241 TCAIM T cell activation inhibitor, mitochondrial protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "DKFZp313N0621|TOAG-1" tolerance associated gene-1 C3orf23 C3orf23 2005-05-05 2012-08-22 2017-12-06 2019-03-19 285343 ENSG00000179152 OTTHUMG00000133049 uc003cnd.5 NM_173826 "CCDS43076|CCDS2712" Q8N3R3 25363083 MGI:1196217 RGD:1560717 HGNC:25241 "ENST00000342649.9|NM_173826.4" +HGNC:30707 TCAM1P testicular cell adhesion molecule 1, pseudogene pseudogene pseudogene Approved 17q23.3 17q23.3 TCAM1 "testicular cell adhesion molecule 1 homolog (mouse)|testicular cell adhesion molecule 1 homolog (mouse), pseudogene" 2005-07-26 2010-03-12 2012-12-07 2015-05-06 146771 ENSG00000240280 OTTHUMG00000154404 AB026156 NR_002947 "11195349|2744760|19766163" MGI:1923120 612756 HGNC:30707 +HGNC:11610 TCAP titin-cap protein-coding gene gene with protein product Approved 17q12 17q12 "T-cap|TELE|telethonin|CMD1N" "19 kDa sarcomeric protein|teneurin C-terminal associated peptide" LGMD2G "limb girdle muscular dystrophy 2G (autosomal recessive)|titin-cap (telethonin)" 2000-02-16 2012-09-20 2021-04-13 8557 ENSG00000173991 OTTHUMG00000133215 uc002hsh.4 AJ000491 NM_003673 CCDS11342 O15273 "9350988|9817758" MGI:1330233 RGD:1592387 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/TCAP|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TCAP|LRG_210|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_210.xml" 604488 119971 HGNC:11610 "ENST00000309889.3|NM_003673.4" HGNC:11610 +HGNC:11612 TCEA1 transcription elongation factor A1 protein-coding gene gene with protein product Approved 8q11.23 08q11.23 "SII|TF2S|TFIIS" transcription factor IIS "TCEA|GTF2S" transcription elongation factor A (SII), 1 General transcription factors 565 1994-08-03 2016-02-15 2016-10-05 6917 ENSG00000187735 OTTHUMG00000164262 uc003xru.5 X62585 NM_006756 "CCDS47858|CCDS47857" P23193 "8812434|8112616" MGI:1196624 RGD:1309880 TCEA1 601425 HGNC:11612 "ENST00000521604.7|NM_006756.4" +HGNC:11613 TCEA1P1 transcription elongation factor A1 pseudogene 1 pseudogene pseudogene Approved 9q22.33 09q22.33 "GTF2SP|TCEA1P" transcription elongation factor A (SII), 1 pseudogene 1994-08-03 2010-01-12 2016-02-15 2016-02-15 6918 ENSG00000197214 OTTHUMG00000020311 X75159 NG_001200 8112616 PGOHUM00000236725 HGNC:11613 +HGNC:29891 TCEA1P2 transcription elongation factor A1 pseudogene 2 pseudogene pseudogene Approved 3p22 03p22 TCEA1 transcription elongation factor A (SII), 1 pseudogene 2 2004-02-03 2016-02-15 2016-02-15 399511 ENSG00000230409 NG_003186 HGNC:29891 +HGNC:30569 TCEA1P3 transcription elongation factor A1 pseudogene 3 pseudogene pseudogene Approved 9p13.1 09p13.1 transcription elongation factor A (SII), 1 pseudogene 3 2004-02-03 2016-02-15 2016-10-05 340501 ENSG00000215165 OTTHUMG00000019941 NG_021646 PGOHUM00000236460 HGNC:30569 +HGNC:31091 TCEA1P4 transcription elongation factor A1 pseudogene 4 pseudogene pseudogene Approved 9p21.1 09p21.1 transcription elongation factor A (SII), 1 pseudogene 4 2004-02-03 2016-02-15 2020-04-20 100421350 ENSG00000236184 OTTHUMG00000019756 NG_023798 PGOHUM00000236010 HGNC:31091 +HGNC:11614 TCEA2 transcription elongation factor A2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 TFIIS transcription elongation factor A (SII), 2 1996-12-27 2016-02-15 2016-02-15 6919 ENSG00000171703 OTTHUMG00000033026 uc061yqu.1 U86749 NM_198723 "CCDS13553|CCDS13554" Q15560 "9441762|8566795" MGI:107368 RGD:61825 604784 HGNC:11614 "ENST00000343484.10|NM_003195.6" +HGNC:11615 TCEA3 transcription elongation factor A3 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 TFIIS.H transcription elongation factor A (SII), 3 1998-05-01 2016-02-15 2016-10-05 6920 ENSG00000204219 OTTHUMG00000003233 uc057dfl.1 AJ223473 NM_003196 CCDS44086 O75764 9790746 MGI:1196908 RGD:1311369 604128 HGNC:11615 "ENST00000450454.7|NM_003196.3" +HGNC:11616 TCEAL1 transcription elongation factor A like 1 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "p21|pp21|SIIR|P21|WEX9" transcription elongation factor A (SII)-like 1 Transcription elongation factor A like family 1216 1998-09-21 2016-02-15 2016-10-05 9338 ENSG00000172465 OTTHUMG00000022699 uc004ekt.4 M99701 NM_004780 CCDS35358 Q15170 "8206389|7971997|16221301" MGI:2385317 RGD:1549724 300237 HGNC:11616 "ENST00000372625.8|NM_004780.3" +HGNC:29818 TCEAL2 transcription elongation factor A like 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "my048|MY0876G05|WEX1" transcription elongation factor A (SII)-like 2 Transcription elongation factor A like family 1216 2004-08-16 2016-02-15 2020-04-02 140597 ENSG00000184905 OTTHUMG00000022048 uc004eip.4 AF325115 NM_080390 CCDS14496 Q9H3H9 16221301 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCEAL2 HGNC:29818 "ENST00000372780.6|NM_080390.4" +HGNC:28247 TCEAL3 transcription elongation factor A like 3 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "MGC15737|WEX8" transcription elongation factor A (SII)-like 3 Transcription elongation factor A like family 1216 2004-08-16 2016-02-15 2016-02-15 85012 ENSG00000196507 OTTHUMG00000022106 uc065aln.1 BC008703 NM_032926 CCDS14511 Q969E4 16221301 MGI:1913354 RGD:1562504 HGNC:28247 "ENST00000372627.10|NM_032926.3" +HGNC:41191 TCEAL3-AS1 TCEAL3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.2 Xq22.2 TCEAL3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100874119 ENSG00000224031 OTTHUMG00000022105 uc065alp.1 AV651489 TCEAL3-AS1 +HGNC:26121 TCEAL4 transcription elongation factor A like 4 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "FLJ21174|WEX7" transcription elongation factor A (SII)-like 4 Transcription elongation factor A like family 1216 2004-08-16 2016-02-15 2020-04-02 79921 ENSG00000133142 OTTHUMG00000022103 uc004ekm.4 AF314542 NM_024863 "CCDS76004|CCDS14510" Q96EI5 "14702039|16221301" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCEAL4 HGNC:26121 "ENST00000472484.6|NM_001006935.3" +HGNC:39582 TCEAL4P1 transcription elongation factor A like 4 pseudogene 1 pseudogene pseudogene Approved 13q13.3 13q13.3 transcription elongation factor A (SII)-like 4 pseudogene 1 2011-03-15 2016-02-15 2016-02-15 100874432 ENSG00000223543 OTTHUMG00000016737 NG_032322 PGOHUM00000248362 HGNC:39582 +HGNC:22282 TCEAL5 transcription elongation factor A like 5 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 WEX4 transcription elongation factor A (SII)-like 5 Transcription elongation factor A like family 1216 2004-08-16 2016-02-15 2020-04-02 340543 ENSG00000204065 OTTHUMG00000022092 uc004ejz.3 NM_001012979 CCDS35356 Q5H9L2 16221301 MGI:3036236 RGD:1594149 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCEAL5 HGNC:22282 "ENST00000372680.2|NM_001012979.3" +HGNC:24553 TCEAL6 transcription elongation factor A like 6 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 WEX2 transcription elongation factor A (SII)-like 6 Transcription elongation factor A like family 1216 2005-10-13 2016-02-15 2016-02-15 158931 ENSG00000204071 OTTHUMG00000022050 uc065ajd.1 BC071675 NM_001006938 CCDS43978 Q6IPX3 16221301 MGI:1923939 HGNC:24553 +HGNC:28336 TCEAL7 transcription elongation factor A like 7 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "MGC23947|WEX5" transcription elongation factor A (SII)-like 7 Transcription elongation factor A like family 1216 2004-08-16 2016-02-15 2016-10-05 56849 ENSG00000182916 OTTHUMG00000022096 uc004ekc.3 BC016786 NM_152278 CCDS14506 Q9BRU2 "14702039|16221301" MGI:1915746 RGD:1593009 300771 HGNC:28336 "ENST00000332431.5|NM_152278.5" +HGNC:28683 TCEAL8 transcription elongation factor A like 8 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "MGC45400|WEX3" transcription elongation factor A (SII)-like 8 Transcription elongation factor A like family 1216 2004-09-15 2016-02-15 2020-04-02 90843 ENSG00000180964 OTTHUMG00000022094 uc004ejx.4 AL833632 NM_153333 CCDS14504 Q8IYN2 16221301 MGI:1913934 RGD:1359631 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCEAL8 HGNC:28683 "ENST00000372685.8|NM_153333.3" +HGNC:45245 TCEAL8P1 transcription elongation factor A like 8 pseudogene 1 pseudogene pseudogene Approved 3p14.1 03p14.1 transcription elongation factor A (SII)-like 8 pseudogene 1 2013-03-11 2016-02-15 2016-02-15 101059982 PGOHUM00000237643 +HGNC:30084 TCEAL9 transcription elongation factor A like 9 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "DKFZp313K1940|WEX6" pp21 homolog WBP5 WW domain binding protein 5 Transcription elongation factor A like family 1216 2004-06-03 2016-02-15 2016-02-15 2016-02-15 51186 ENSG00000185222 OTTHUMG00000022097 uc004eke.4 BC023544 NM_016303 CCDS14507 Q9UHQ7 16221301 MGI:109567 RGD:1592975 HGNC:30084 "ENST00000372661.6|NM_016303.3" +HGNC:28277 TCEANC transcription elongation factor A N-terminal and central domain containing protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 MGC17403 transcription elongation factor A (SII) N-terminal and central domain containing 2009-01-30 2016-02-15 2016-02-15 170082 ENSG00000176896 OTTHUMG00000021154 uc064yap.1 NM_152634 "CCDS75954|CCDS48081" Q8N8B7 12477932 MGI:2685236 RGD:1584894 HGNC:28277 HGNC:28277 +HGNC:26494 TCEANC2 transcription elongation factor A N-terminal and central domain containing 2 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ32112 C1orf83 "chromosome 1 open reading frame 83|transcription elongation factor A (SII) N-terminal and central domain containing 2" MicroRNA protein coding host genes 1691 2005-05-26 2011-01-25 2016-02-15 2019-03-19 127428 ENSG00000116205 OTTHUMG00000008434 uc001cwt.2 AK056674 NM_153035 CCDS587 Q96MN5 25906783 MGI:1913776 RGD:1359481 HGNC:26494 "ENST00000234827.6|NM_153035.3" +HGNC:15630 TCERG1 transcription elongation regulator 1 protein-coding gene gene with protein product Approved 5q32 05q32 "CA150|Urn1" "transcription factor CA150|co-activator of 150 kDa|TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD|TATA box-binding protein-associated factor 2S" TAF2S TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD 2001-06-20 2002-01-25 2002-01-24 2016-10-05 10915 ENSG00000113649 OTTHUMG00000129683 uc003lob.4 AF017789 NM_001040006 "CCDS4282|CCDS43379" O14776 "9315662|11003711" MGI:1926421 RGD:1311748 605409 HGNC:15630 "ENST00000679501.2|NM_001382548.1" +HGNC:23533 TCERG1L transcription elongation regulator 1 like protein-coding gene gene with protein product Approved 10q26.3 10q26.3 FLJ38950 transcription elongation regulator 1-like 2003-11-21 2015-12-04 2015-12-04 256536 ENSG00000176769 OTTHUMG00000019276 uc001lkp.4 AK096269 NM_174937 CCDS7662 Q5VWI1 MGI:1917821 RGD:1562437 HGNC:23533 "ENST00000368642.4|NM_174937.4" +HGNC:49532 TCERG1L-AS1 TCERG1L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.3 10q26.3 Antisense RNAs 1987 2014-01-08 2014-01-08 101927489 ENSG00000230098 OTTHUMG00000019275 "BQ007413|BQ011025|BQ011765" XR_242764 TCERG1L-AS1 HGNC:49532 +HGNC:55056 TCERG1P1 TCERG1 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 100420957 ENSG00000224314 NG_026877 +HGNC:55057 TCERG1P2 TCERG1 pseudogene 2 pseudogene pseudogene Approved 16p12.3 16p12.3 2020-06-04 2020-06-04 100421029 ENSG00000260675 NG_026350 PGOHUM00000293448 +HGNC:11633 TCF3 transcription factor 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "E2A|ITF1|MGC129647|MGC129648|bHLHb21|VDIR|E47|p75" "transcription factor E2-alpha|immunoglobulin transcription factor 1|kappa-E2-binding factor|E2A immunoglobulin enhancer-binding factor E12/E47|VDR interacting repressor" Basic helix-loop-helix proteins 420 1990-07-26 2013-02-26 2021-04-13 6929 ENSG00000071564 OTTHUMG00000180031 uc002ltr.3 M65214 NM_003200 "CCDS45899|CCDS12074" P15923 "2308859|1967983" MGI:98510 RGD:620914 LRG_1325|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1325.xml TCF3 147141 171640 HGNC:11633 "ENST00000262965.12|NM_003200.5" HGNC:11633 +HGNC:49742 TCF3P1 transcription factor 3 pseudogene 1 pseudogene pseudogene Approved 9p24.1 09p24.1 2014-02-13 2014-02-13 100129107 ENSG00000236567 OTTHUMG00000019487 NG_009760 PGOHUM00000263534 HGNC:49742 +HGNC:11634 TCF4 transcription factor 4 protein-coding gene gene with protein product Approved 18q21.2 18q21.2 "SEF2-1B|ITF2|bHLHb19|E2-2" "SL3-3 enhancer factor 2|class B basic helix-loop-helix protein 19|immunoglobulin transcription factor 2" Basic helix-loop-helix proteins 420 1990-10-16 2020-04-02 6925 ENSG00000196628 OTTHUMG00000132713 uc002lfz.3 M74719 NM_003199 "CCDS77192|CCDS86671|CCDS86672|CCDS58631|CCDS58623|CCDS11960|CCDS58624|CCDS58630|CCDS58626|CCDS58625|CCDS82255|CCDS82257|CCDS58627|CCDS58628|CCDS58629|CCDS42438|CCDS59321|CCDS77191" P15884 "9302263|2308860" MGI:98506 RGD:69271 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TCF4 602272 158595 HGNC:11634 "ENST00000354452.8|NM_001083962.2" HGNC:11634 +HGNC:51642 TCF4-AS1 TCF4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 MIR4529HG MIR4529 host gene Antisense RNAs 1987 2015-04-09 2015-04-09 105372127 ENSG00000267028 OTTHUMG00000179868 NR_132985 TCF4-AS1 HGNC:51642 +HGNC:51643 TCF4-AS2 TCF4 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 18q21.2 18q21.2 Antisense RNAs 1987 2015-04-09 2015-04-09 106480339 ENSG00000267402 OTTHUMG00000179869 TCF4-AS2 +HGNC:11639 TCF7 transcription factor 7 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 TCF-1 T-cell-factor-7 transcription factor 7 (T-cell specific, HMG-box) "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1991-08-18 2017-05-12 2017-05-12 6932 ENSG00000081059 OTTHUMG00000129124 uc003kyt.4 Z47362 NM_201634 "CCDS43362|CCDS4169|CCDS47263|CCDS4170" P36402 MGI:98507 RGD:1305894 189908 HGNC:11639 "ENST00000342854.10|NM_003202.5" +HGNC:11640 TCF7L1 transcription factor 7 like 1 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 TCF3 transcription factor 7-like 1 (T-cell specific, HMG-box) "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1998-01-20 2016-02-01 2016-02-01 83439 ENSG00000152284 OTTHUMG00000130026 uc002soy.4 X62870 NM_031283 CCDS1971 Q9HCS4 "1741298|11085512" MGI:1202876 RGD:1311671 604652 HGNC:11640 "ENST00000282111.4|NM_031283.3" +HGNC:41388 TCF7L1-IT1 TCF7L1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p11.2 02p11.2 TCF7L1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874334 ENSG00000231134 OTTHUMG00000153211 uc061ley.1 NR_046797 TCF7L1-IT1 HGNC:41388 +HGNC:11641 TCF7L2 transcription factor 7 like 2 protein-coding gene gene with protein product Approved 10q25.2-q25.3 10q25.2-q25.3 TCF-4 TCF4 transcription factor 7-like 2 (T-cell specific, HMG-box) "TCF/LEF transcription factor family|Wnt enhanceosome complex" "1549|1677" 1998-01-20 2016-02-01 2018-02-13 6934 ENSG00000148737 OTTHUMG00000019070 uc001lac.5 X62871 NM_030756 "CCDS81504|CCDS53577|CCDS53578|CCDS86148|CCDS73196|CCDS55729|CCDS7576|CCDS73197|CCDS73198" Q9NQB0 1741298 MGI:1202879 RGD:1583621 TCF7L2 602228 471198 HGNC:11641 "ENST00000627217.3|NM_001146274.2" HGNC:11641 +HGNC:11623 TCF12 transcription factor 12 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "HEB|HTF4|HsT17266|bHLHb20|p64" helix-loop-helix transcription factor 4 Basic helix-loop-helix proteins 420 1994-06-17 2008-07-31 2018-02-20 6938 ENSG00000140262 OTTHUMG00000132047 uc002aea.4 BC050556 NM_003205 "CCDS76761|CCDS10159|CCDS42042|CCDS10160|CCDS76760" Q99081 1886779 MGI:101877 RGD:3829 TCF12 600480 330703 HGNC:11623 "ENST00000333725.10|NM_207037.2" HGNC:11623 +HGNC:11627 TCF15 transcription factor 15 protein-coding gene gene with protein product Approved 20p13 20p13 "EC2|PARAXIS|bHLHa40" transcription factor 15 (basic helix-loop-helix) Basic helix-loop-helix proteins 420 1995-02-21 2017-02-27 2017-02-27 6939 ENSG00000125878 OTTHUMG00000031640 uc002wdz.4 NM_004609 CCDS33432 Q12870 "8825648|8041747" MGI:104664 RGD:1308464 601010 HGNC:11627 "ENST00000246080.4|NM_004609.4" +HGNC:11629 TCF19 transcription factor 19 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 SC1 PHD finger proteins 88 1995-08-14 2009-02-05 2016-10-05 6941 ENSG00000137310 OTTHUMG00000031274 uc063mzg.1 U25826 NM_007109 CCDS43446 Q9Y242 "1868030|8595903" MGI:103180 RGD:1302974 600912 HGNC:11629 "ENST00000376257.8|NM_007109.3" +HGNC:11631 TCF20 transcription factor 20 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "AR1|SPBP" stromelysin-1 platelet-derived growth factor-responsive element binding protein transcription factor 20 (AR1) 1996-04-12 2016-07-04 2021-04-13 6942 ENSG00000100207 OTTHUMG00000150920 uc003bcj.3 U19345 NM_181492 "CCDS14033|CCDS14032" Q9UGU0 "9730594|10995766" MGI:108399 RGD:1594486 LRG_1025|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1025.xml 603107 471196 HGNC:11631 "ENST00000677622.1|NM_001378418.1" HGNC:11631 +HGNC:11632 TCF21 transcription factor 21 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "POD1|bHLHa23" Basic helix-loop-helix proteins 420 1998-07-15 2021-04-13 6943 ENSG00000118526 OTTHUMG00000015608 uc003qei.5 AF047419 NM_198392 CCDS5167 O43680 9507058 MGI:1202715 RGD:620523 LRG_446|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_446.xml 603306 HGNC:11632 "ENST00000367882.5|NM_003206.4" +HGNC:18602 TCF23 transcription factor 23 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "OUT|bHLHa24" Basic helix-loop-helix proteins 420 2002-05-01 2014-11-19 150921 ENSG00000163792 OTTHUMG00000152031 uc010ylg.3 AC013403 NM_175769 CCDS33163 Q7RTU1 "11701948|10652346" MGI:1934960 RGD:1586500 609635 HGNC:18602 "ENST00000296096.6|NM_175769.3" +HGNC:32275 TCF24 transcription factor 24 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 bHLHa25 Basic helix-loop-helix proteins 420 2005-10-04 2015-09-08 100129654 ENSG00000261787 OTTHUMG00000177282 uc022avl.1 BK000144 NM_001193502 CCDS59103 Q7RTU0 14516699 MGI:3780500 RGD:1589398 HGNC:32275 "ENST00000563496.2|NM_001193502.2" +HGNC:29181 TCF25 transcription factor 25 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "Nulp1|KIAA1049" transcription factor 25 (basic helix-loop-helix) 2006-05-05 2016-03-22 2016-03-22 22980 ENSG00000141002 OTTHUMG00000138986 uc002fpb.3 AF322111 NM_014972 CCDS10987 Q9BQ70 "12107429|16574069" MGI:1914105 RGD:1309054 612326 HGNC:29181 "ENST00000263346.13|NM_014972.3" +HGNC:11646 TCFL5 transcription factor like 5 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "Figlb|E2BP-1|CHA|bHLHe82" HPV-16 E2 binding protein 1 transcription factor-like 5 (basic helix-loop-helix) Basic helix-loop-helix proteins 420 1998-11-19 2016-04-06 2016-04-06 10732 ENSG00000101190 OTTHUMG00000032939 uc002ydp.3 AB012124 NM_006602 CCDS13506 Q9UL49 9763657 MGI:2672878 RGD:1305899 604745 HGNC:11646 "ENST00000335351.8|NM_006602.4" +HGNC:11791 TCHH trichohyalin protein-coding gene gene with protein product Approved 1q21.3 01q21.3 THH "EF-hand domain containing|S100 fused type protein family" "863|1350" 1993-04-27 2006-01-27 2021-05-26 7062 ENSG00000159450 OTTHUMG00000013066 uc001ezp.3 L09190 NM_007113 CCDS41396 Q07283 1431214 MGI:2177944 RGD:1309635 190370 HGNC:11791 "ENST00000614923.2|NM_007113.4" +HGNC:31796 TCHHL1 trichohyalin like 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "S100A17|THHL1" "S100 calcium binding protein A17|trichohyalin-like 1" S100 fused type protein family 1350 2004-08-11 2006-01-27 2015-11-11 2018-11-19 126637 ENSG00000182898 OTTHUMG00000013058 uc001ezo.1 NM_001008536 CCDS30857 Q5QJ38 MGI:1918575 RGD:1308305 HGNC:31796 "ENST00000368806.2|NM_001008536.2" +HGNC:28135 TCHP trichoplein keratin filament binding protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "MGC10854|TpMs" mitostatin trichoplein, keratin filament binding 2006-01-27 2016-03-14 2020-04-01 84260 ENSG00000139437 OTTHUMG00000169281 uc001tpn.4 AK092736 NM_032300 CCDS9137 Q9BT92 "15731013|20930847" MGI:1925082 RGD:1310813 612654 HGNC:28135 "ENST00000405876.9|NM_001143852.2" +HGNC:1357 TCIM transcriptional and immune response regulator protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "TC-1|hTC-1|TC1" human thyroid cancer 1 C8orf4 chromosome 8 open reading frame 4 2000-07-12 2017-08-09 2017-08-09 2020-09-17 56892 ENSG00000176907 OTTHUMG00000164045 uc003xnq.3 AF268037 NM_020130 CCDS6115 Q9NR00 "11056052|24937306" MGI:1916318 RGD:6499724 607702 HGNC:1357 "ENST00000315792.5|NM_020130.5" +HGNC:11647 TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "TIRC7|OC-116|OC116|ATP6N1C|Atp6i|a3|ATP6V0A3" "T-cell immune response cDNA 7|V-ATPase subunit a3" "T-cell, immune regulator 1|T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3|T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3|T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3" "V-type ATPase subunits|MicroRNA protein coding host genes" "415|1691" 1999-02-15 2017-12-06 2021-05-26 10312 ENSG00000110719 OTTHUMG00000167358 uc001one.4 AF025374 NM_006019 "CCDS53670|CCDS8177" Q13488 "8579597|9806637" MGI:1350931 RGD:735136 "TCIRG1base: Mutation registry for autosomal recessive osteopetrosis|http://structure.bmc.lu.se/idbase/TCIRG1base/|LRG_115|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_115.xml" 604592 119990 objectId:825 HGNC:11647 "ENST00000265686.8|NM_006019.4" HGNC:11647 +HGNC:11648 TCL1A TCL1 family AKT coactivator A protein-coding gene gene with protein product Approved 14q32.13 14q32.13 TCL1 T cell leukemia/lymphoma 1A 1998-12-03 2020-04-30 2020-04-30 8115 ENSG00000100721 OTTHUMG00000171390 uc001yfc.4 X82240 NM_001098725 CCDS9941 P56279 "2783489|7809072" MGI:1097166 RGD:1594686 TCL1A 186960 330909 HGNC:11648 "ENST00000402399.6|NM_021966.3" +HGNC:11649 TCL1B TCL1 family AKT coactivator B protein-coding gene gene with protein product Approved 14q32.13 14q32.13 TML1 TCL1/MTCP1-like 1 T cell leukemia/lymphoma 1B 1998-12-03 2020-04-30 2020-04-30 9623 ENSG00000213231 OTTHUMG00000028912 uc001yez.3 AB018563 NM_004918 CCDS32151 O95988 "10077617|10344735" "MGI:1351600|MGI:1351601|MGI:1351604|MGI:1351609|MGI:1351635" 603769 HGNC:11649 "ENST00000340722.8|NM_004918.4" +HGNC:13463 TCL6 T cell leukemia/lymphoma 6 non-coding RNA RNA, long non-coding Approved 14q32.13 14q32.13 "TCL6e1|TNG2|TNG1" "T-cell leukemia/lymphoma 6|T-cell leukemia/lymphoma 6 (non-protein coding)|T cell leukemia/lymphoma 6 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-02-07 2018-05-16 2018-05-16 27004 ENSG00000187621 OTTHUMG00000149979 uc001yeu.3 AB035338 NR_028288 "10588720|10851082" 604412 TCL6 HGNC:13463 +HGNC:11652 TCN1 transcobalamin 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "TCI|TC1" "haptocorin|haptocorrin" "transcobalamin I (vitamin B12 binding protein, R binder family)|transcobalamin I" 1990-06-11 2015-12-08 2021-05-26 6947 ENSG00000134827 OTTHUMG00000167400 uc001noj.3 J05068 NM_001062 CCDS7978 P20061 189905 471200 HGNC:11652 "ENST00000257264.4|NM_001062.4" +HGNC:11653 TCN2 transcobalamin 2 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "D22S676|D22S750|TC2" macrocytic anemia "transcobalamin II; macrocytic anemia|transcobalamin II" 2001-06-22 2015-12-08 2021-05-26 6948 ENSG00000185339 OTTHUMG00000151095 uc003aip.3 NM_000355 "CCDS13881|CCDS54519" P20062 "1708393|7742531" MGI:98534 RGD:620681 "TCN2base: Mutation registry for Transcobalamin II deficiency|http://structure.bmc.lu.se/idbase/TCN2base/|LRG_116|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_116.xml" 613441 119999 HGNC:11653 "ENST00000215838.8|NM_000355.4" HGNC:11653 +HGNC:11654 TCOF1 treacle ribosome biogenesis factor 1 protein-coding gene gene with protein product Approved 5q32-q33.1 05q32-q33.1 "treacle|TCS" Treacher Collins-Franceschetti syndrome 1 Ribosomal biogenesis factors 1729 1991-05-21 2016-02-17 2021-05-26 6949 ENSG00000070814 OTTHUMG00000130081 uc003lry.4 NM_001008656 "CCDS47306|CCDS4306|CCDS54936|CCDS47307|CCDS47305" Q13428 1765376 MGI:892003 RGD:1309850 LOVD TCOF1 mutation database|http://databases.lovd.nl/my_genome/genes/TCOF1 606847 120003 HGNC:11654 "ENST00000643257.2|NM_001371623.1" HGNC:11654 +HGNC:11655 TCP1 t-complex 1 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "D6S230E|CCT1|Ccta" "Chaperonins|Small nucleolar RNA protein coding host genes" "587|1835" 2001-06-22 2016-10-05 6950 ENSG00000120438 OTTHUMG00000015937 uc003qsr.4 X52882 NM_030752 "CCDS5269|CCDS43522" P17987 "3476253|3653076" MGI:98535 RGD:3832 186980 HGNC:11655 "ENST00000321394.12|NM_030752.3" +HGNC:11659 TCP1P1 t-complex 1 pseudogene 1 pseudogene pseudogene Approved 7p14.1 07p14.1 TCP1L1 t-complex 1-like 1 2001-06-22 2008-09-22 2008-09-22 2014-11-19 647047 ENSG00000229161 OTTHUMG00000155181 NG_006549 PGOHUM00000233205 HGNC:11659 +HGNC:11660 TCP1P2 t-complex 1 pseudogene 2 pseudogene pseudogene Approved 5p13.1 05p13.1 TCP1L2 t-complex 1-like 2 2001-06-22 2008-09-22 2008-09-22 2014-11-19 6952 NG_003036 HGNC:11660 +HGNC:21630 TCP1P3 t-complex 1 pseudogene 3 pseudogene pseudogene Approved 12p12.2 12p12.2 TCP1L3 t-complex 1-like 3 2003-07-01 2008-09-22 2008-09-22 2017-03-23 400013 ENSG00000256849 OTTHUMG00000168940 XR_017001 PGOHUM00000291580 HGNC:21630 +HGNC:11657 TCP10L t-complex 10 like protein-coding gene gene with protein product Approved 21q22.11 21q22.11 PRED77 "t-complex 10 (a murine tcp homolog)-like|t-complex 10 (mouse)-like" 2000-05-23 2017-02-21 2017-02-21 140290 ENSG00000242220 OTTHUMG00000064901 uc002ypw.5 AF115967 NM_144659 CCDS13616 Q8TDR4 10830953 "MGI:98541|MGI:98543" 608365 471202 HGNC:11657 "ENST00000300258.8|NM_144659.7" +HGNC:21254 TCP10L2 t-complex 10 like 2, pseudogene pseudogene pseudogene Approved 6q27 06q27 bA517H2.3 "t-complex 10-like 2 (mouse)|t-complex 10-like 2|t-complex 10 like 2" 2003-11-27 2020-03-20 2020-03-20 401285 ENSG00000166984 OTTHUMG00000016014 uc010kkp.3 XR_040749 CCDS47514 "MGI:98541|MGI:98542|MGI:98543" RGD:1307454 HGNC:21254 +HGNC:11656 TCP10L3 t-complex 10 like 3, pseudogene pseudogene pseudogene Approved 6q27 06q27 TCP10 "t-complex 10 (a murine tcp homolog)|t-complex 10 (mouse)|t-complex 10 homolog (mouse)|t-complex 10" 1989-06-30 2020-03-20 2020-03-20 2021-10-07 6953 ENSG00000203690 OTTHUMG00000016026 uc003qvv.2 U03399 NR_163193 8111376 "MGI:98541|MGI:98543" 187020 HGNC:11656 +HGNC:11658 TCP11 t-complex 11 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "KIAA0229|FPPR" fertilization-promoting peptide receptor D6S230E "t-complex 11 (a murine tcp homolog)|t-complex 11 homolog (mouse)|t-complex 11, testis-specific" 1992-11-25 2016-03-14 2016-03-14 6954 ENSG00000124678 OTTHUMG00000014560 uc003oka.4 NM_001093728 "CCDS59016|CCDS4799|CCDS59017|CCDS59015" Q8WWU5 "1427894|11756566|21597245" MGI:98544 RGD:1359387 186982 HGNC:11658 "ENST00000311875.11|NM_001370687.1" +HGNC:25655 TCP11L1 t-complex 11 like 1 protein-coding gene gene with protein product Approved 11p13 11p13 FLJ11336 "t-complex 11 (mouse) like 1|t-complex 11, testis-specific-like 1" 2005-10-04 2016-03-14 2016-03-14 55346 ENSG00000176148 OTTHUMG00000165303 uc001mud.3 BC041696 NM_018393 CCDS7882 Q9NUJ3 MGI:2444263 RGD:1562313 HGNC:25655 "ENST00000334274.9|NM_018393.4" +HGNC:28627 TCP11L2 t-complex 11 like 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 MGC40368 "t-complex 11 (mouse) like 2|t-complex 11 (mouse)-like 2|t-complex 11, testis-specific-like 2" 2005-10-04 2016-03-14 2016-03-14 255394 ENSG00000166046 OTTHUMG00000170087 uc001tln.5 BC033617 NM_152772 "CCDS66456|CCDS9104" Q8N4U5 MGI:2444679 RGD:1307494 HGNC:28627 "ENST00000299045.8|NM_152772.3" HGNC:28627 +HGNC:48369 TCP11X1 t-complex 11 family, X-linked 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 2013-05-14 2017-02-10 100996631 ENSG00000268235 OTTHUMG00000022051 NM_001368158 B4DZS4 PGOHUM00000306176 HGNC:48369 +HGNC:48335 TCP11X2 t-complex 11 family, X-linked 2 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 2013-05-14 2015-09-08 100996648 ENSG00000215029 OTTHUMG00000152591 NM_001277423 CCDS59530 Q5H9J9 MGI:1919091 RGD:1598081 HGNC:48335 +HGNC:48370 TCP11X3P t-complex 11 family, X-linked 3, pseudogene pseudogene pseudogene Approved Xq22.1 Xq22.1 2013-05-14 2015-02-10 106481605 ENSG00000251525 OTTHUMG00000189498 NG_044465 PGOHUM00000241915 HGNC:48370 +HGNC:11692 TCTA T cell leukemia translocation altered protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "T-cell leukemia translocation altered gene|T-cell leukemia translocation altered" 1995-08-11 2017-12-06 2017-12-06 6988 ENSG00000145022 OTTHUMG00000156846 uc003cwv.5 NM_022171 CCDS2796 P57738 7728759 MGI:1918829 RGD:1359333 600690 HGNC:11692 "ENST00000273590.4|NM_022171.3" +HGNC:11693 TCTE1 t-complex-associated-testis-expressed 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "D6S46|MGC33600|FAP155|DRC5" Dynein regulatory complex 981 1990-10-25 2021-09-13 202500 ENSG00000146221 OTTHUMG00000014763 uc003oxi.3 BC035022 NM_182539 CCDS4910 Q5JU00 "2568335|8646886" MGI:98640 RGD:1305744 186975 HGNC:11693 "ENST00000371505.5|NM_182539.4" +HGNC:26113 TCTN1 tectonic family member 1 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "FLJ21127|TECT1|JBTS13" "Tectonic proteins|MKS complex" "767|1545" 2007-08-20 2021-05-26 79600 ENSG00000204852 OTTHUMG00000150051 uc001trn.6 AK055891 NM_024549 "CCDS41834|CCDS41833|CCDS41835" Q2MV58 16357211 MGI:3603820 RGD:1566266 609863 274226 HGNC:26113 "ENST00000397659.9|NM_001082538.3" HGNC:26113 +HGNC:25774 TCTN2 tectonic family member 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "FLJ12975|TECT2|MKS8|JBTS24" Meckel syndrome, type 8 C12orf38 chromosome 12 open reading frame 38 "Tectonic proteins|MKS complex" "767|1545" 2006-01-23 2007-08-20 2007-08-20 2021-05-26 79867 ENSG00000168778 OTTHUMG00000168700 uc001ufp.3 AK056924 NM_024809 "CCDS9253|CCDS45007" Q96GX1 21462283 MGI:1915228 RGD:1591895 613846 260361 HGNC:25774 "ENST00000303372.7|NM_024809.5" HGNC:25774 +HGNC:24519 TCTN3 tectonic family member 3 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 "DKFZP564D116|TECT3|JBTS18" C10orf61 chromosome 10 open reading frame 61 Tectonic proteins 767 2004-05-27 2007-08-20 2007-08-20 2021-05-26 26123 ENSG00000119977 OTTHUMG00000018814 uc001klb.4 AK098295 NM_015631 "CCDS44461|CCDS31258" Q6NUS6 12975309 MGI:1914840 RGD:1305166 613847 310043 HGNC:24519 "ENST00000371217.10|NM_015631.6" HGNC:24519 +HGNC:11700 TDG thymine DNA glycosylase protein-coding gene gene with protein product Approved 12q23.3 12q23.3 G/T mismatch-specific thymine DNA glycosylase DNA glycosylases 1024 1997-04-25 2015-06-23 2016-10-05 6996 ENSG00000139372 OTTHUMG00000168418 uc001tkg.4 U51166 NM_001363612 "CCDS9095|CCDS86330" Q13569 "8662714|9299239" MGI:108247 RGD:620959 601423 3.2.2.29 HGNC:11700 "ENST00000392872.8|NM_003211.6" +HGNC:11701 TDGF1 teratocarcinoma-derived growth factor 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "CRIPTO|CR|Cripto-1|CR-1" 1990-08-02 2021-11-11 6997 ENSG00000241186 OTTHUMG00000191661 uc003cpv.4 M96955 NM_003212 "CCDS2742|CCDS54575" P13385 "1882841|10393436" MGI:98658 RGD:1594185 187395 138518 HGNC:11701 "ENST00000296145.6|NM_003212.4" +HGNC:42350 TDGF1P1 teratocarcinoma-derived growth factor 1 pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2011-06-24 2011-06-24 100421177 ENSG00000227988 OTTHUMG00000024089 NG_026672 PGOHUM00000241237 HGNC:42350 +HGNC:11702 TDGF1P2 teratocarcinoma-derived growth factor 1 pseudogene 2 pseudogene pseudogene Approved 2q36.3 02q36.3 "CR-2|CRIPTO-2" TDGF2 teratocarcinoma-derived growth factor 2, pseudogene 1999-09-28 2011-06-24 2011-06-24 2012-11-30 22816 ENSG00000183514 OTTHUMG00000153585 Y09998 NG_001244 10393436 PGOHUM00000240543 HGNC:11702 +HGNC:11703 TDGF1P3 teratocarcinoma-derived growth factor 1 pseudogene 3 pseudogene pseudogene Approved Xq23 Xq23 "TDGF2|CR-3|CRIPTO-3|CRIPTO3" TDGF3 teratocarcinoma-derived growth factor 3, pseudogene 1990-08-02 2011-06-24 2011-06-24 2021-11-10 6998 ENSG00000225366 OTTHUMG00000022195 M96956 NR_002718 P51864 1882841 MGI:98658 HGNC:11703 +HGNC:11704 TDGF1P4 teratocarcinoma-derived growth factor 1 pseudogene 4 pseudogene pseudogene Approved 6p25.2 06p25.2 "CR-4|CRIPTO-4" TDGF4 teratocarcinoma-derived growth factor 4 (pseudogene) 1999-09-28 2011-06-24 2011-06-24 2012-11-30 22815 ENSG00000217566 OTTHUMG00000014153 Y09997 NG_001243 10393436 PGOHUM00000260147 HGNC:11704 +HGNC:11705 TDGF1P5 teratocarcinoma-derived growth factor 1 pseudogene 5 pseudogene pseudogene Approved 8q11.23 08q11.23 "CR-5|CRIPTO-5" TDGF5 teratocarcinoma-derived growth factor 5, pseudogene 1999-09-28 2011-06-24 2011-06-24 2011-06-24 22814 ENSG00000254274 OTTHUMG00000164314 Y09996 NG_001242 10393436 PGOHUM00000249665 HGNC:11705 +HGNC:11706 TDGF1P6 teratocarcinoma-derived growth factor 1 pseudogene 6 pseudogene pseudogene Approved 3q22.3 03q22.3 "CR-6|CRIPTO-6" TDGF6 teratocarcinoma-derived growth factor 6, pseudogene 1999-09-28 2011-06-24 2011-06-24 2014-11-19 22813 ENSG00000241438 OTTHUMG00000159794 NG_012350 10393436 PGOHUM00000238206 HGNC:11706 +HGNC:11707 TDGF1P7 teratocarcinoma-derived growth factor 1 pseudogene 7 pseudogene pseudogene Approved 19q13.2 19q13.2 "CR-7|CRIPTO-7" TDGF7 teratocarcinoma-derived growth factor 7, pseudogene 1999-09-28 2011-06-24 2011-06-24 2016-07-25 100129080 ENSG00000269584 OTTHUMG00000183070 NG_012349 10393436 PGOHUM00000295358 HGNC:11707 +HGNC:49891 TDGP1 thymine-DNA glycosylase pseudogene 1 pseudogene pseudogene Approved 12p12.1 12p12.1 2014-03-18 2017-03-23 645233 ENSG00000255725 OTTHUMG00000169086 NR_024382 PGOHUM00000291588 HGNC:49891 +HGNC:15547 TDH L-threonine dehydrogenase (pseudogene) pseudogene pseudogene Approved 8p23.1 08p23.1 "FLJ25033|SDR14E1P" short chain dehydrogenase/reductase family 14E, member 1 (pseudogene) L-threonine dehydrogenase Short chain dehydrogenase/reductase superfamily 743 2001-04-25 2013-09-26 2020-04-20 157739 ENSG00000154316 OTTHUMG00000165365 AJ301562 NR_001578 Q8IZJ6 "11896452|12361482|19027726" MGI:1926231 RGD:1310214 615174 HGNC:15547 +HGNC:55510 TDH-AS1 TDH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p23.1 08p23.1 Antisense RNAs 1987 2021-03-17 2021-03-17 100129129 ENSG00000255020 NR_147705 +HGNC:11708 TDO2 tryptophan 2,3-dioxygenase protein-coding gene gene with protein product Approved 4q32.1 04q32.1 "TDO|TPH2" 1989-05-29 2016-10-25 6999 ENSG00000151790 OTTHUMG00000161838 uc003ipf.3 NM_005651 CCDS34086 P48775 MGI:1928486 RGD:68370 191070 471250 objectId:2887 1.13.11.11 HGNC:11708 "ENST00000536354.3|NM_005651.4" HGNC:11708 +HGNC:18884 TDP1 tyrosyl-DNA phosphodiesterase 1 protein-coding gene gene with protein product Approved 14q32.11 14q32.11 "FLJ11090|SCAN1" 2002-07-13 2020-04-01 55775 ENSG00000042088 OTTHUMG00000171016 uc001xxy.4 AF182002 NM_018319 "CCDS81836|CCDS9888" Q9NUW8 "11839309|12244316" MGI:1920036 RGD:1309618 607198 120006 HGNC:18884 "ENST00000335725.9|NM_018319.4" HGNC:18884 +HGNC:17768 TDP2 tyrosyl-DNA phosphodiesterase 2 protein-coding gene gene with protein product Approved 6p22.3 06p22.3 TTRAP TRAF and TNF receptor associated protein 2003-05-02 2010-05-07 2010-05-07 2021-05-26 51567 ENSG00000111802 OTTHUMG00000014360 uc003nej.4 AJ269473 NM_016614 CCDS4557 O95551 11478795 MGI:1860486 RGD:1560342 605764 406901 3.1.4.- HGNC:17768 "ENST00000378198.9|NM_016614.3" HGNC:17768 +HGNC:11712 TDRD1 tudor domain containing 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 CT41.1 cancer/testis antigen 41.1 "Zinc fingers MYND-type|Tudor domain containing" "87|780" 2000-06-16 2016-10-05 56165 ENSG00000095627 OTTHUMG00000019083 uc001lbg.1 AF285606 NM_001365891 CCDS7588 Q9BXT4 11279525 MGI:1933218 RGD:1306140 605796 HGNC:11712 +HGNC:20612 TDRD3 tudor domain containing 3 protein-coding gene gene with protein product Approved 13q21.2 13q21.2 FLJ21007 Tudor domain containing 780 2003-03-05 2016-10-05 81550 ENSG00000083544 OTTHUMG00000017007 uc001vhz.5 AK023578 NM_030794 "CCDS53872|CCDS9441" Q9H7E2 MGI:2444023 RGD:1310126 614392 HGNC:20612 "ENST00000377881.8|NM_001146070.2" +HGNC:20614 TDRD5 tudor domain containing 5 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "FLJ34823|TUDOR3" Tudor domain containing 780 2003-03-05 2016-10-05 163589 ENSG00000162782 OTTHUMG00000035259 uc021pfm.3 AK092142 NM_173533 "CCDS1332|CCDS55663" Q8NAT2 MGI:2684949 RGD:1307078 617748 HGNC:20614 "ENST00000444136.6|NM_001199085.3" +HGNC:21339 TDRD6 tudor domain containing 6 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "NY-CO-45|bA446F17.4|CT41.2|SPATA36" "cancer/testis antigen 41.2|spermatogenesis associated 36" Tudor domain containing 780 2003-11-27 2018-11-19 221400 ENSG00000180113 OTTHUMG00000014788 uc010jze.3 AF039442 NM_001010870 "CCDS55017|CCDS34470" O60522 9610721 MGI:2679727 RGD:1305956 611200 HGNC:21339 "ENST00000316081.11|NM_001010870.3" HGNC:21339 +HGNC:56119 TDRD6-AS1 TDRD6 and SLC25A27 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.3 06p12.3 Antisense RNAs 1987 2022-01-07 2022-01-07 101926934 ENSG00000242973 NR_134642 +HGNC:30831 TDRD7 tudor domain containing 7 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 PCTAIRE2BP Tudor domain containing 780 2004-04-01 2021-05-26 23424 ENSG00000196116 OTTHUMG00000020326 uc004axj.4 AB025254 NM_014290 CCDS6725 Q8NHU6 21436445 MGI:2140279 RGD:619724 611258 471208 HGNC:30831 "ENST00000355295.5|NM_014290.3" HGNC:30831 +HGNC:20122 TDRD9 tudor domain containing 9 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "DKFZp434N0820|FLJ36164|NET54" C14orf75 chromosome 14 open reading frame 75 Tudor domain containing 780 2002-12-18 2004-04-02 2004-04-01 2015-08-26 122402 ENSG00000156414 OTTHUMG00000152876 uc001yom.5 AK093483 NM_153046 CCDS9987 Q8NDG6 MGI:1921941 RGD:1306942 617963 HGNC:20122 "ENST00000409874.9|NM_153046.3" HGNC:20122 +HGNC:25316 TDRD10 tudor domain containing 10 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 DKFZp434M202 "RNA binding motif containing|Tudor domain containing" "725|780" 2005-05-31 2014-11-18 126668 ENSG00000163239 OTTHUMG00000037264 uc001ffd.3 AL713777 NM_182499 "CCDS30878|CCDS41406" Q5VZ19 12975309 HGNC:25316 "ENST00000368482.8|NM_182499.4" +HGNC:25044 TDRD12 tudor domain containing 12 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "ECAT8|FLJ13072" Tudor domain containing 780 2007-11-15 2019-04-30 91646 ENSG00000173809 OTTHUMG00000177230 uc002ntq.3 AK023134 NM_001015890 CCDS46038 Q587J7 11441184 MGI:1919231 RGD:1562792 471206 HGNC:25044 +HGNC:45037 TDRD15 tudor domain containing 15 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 Tudor domain containing 780 2013-01-22 2013-01-23 2013-01-23 2013-01-23 100129278 ENSG00000218819 OTTHUMG00000151795 uc061gzs.1 NM_001306137 CCDS77385 B5MCY1 RGD:7716193 HGNC:45037 "ENST00000405799.3|NM_001306137.2" +HGNC:43642 TDRG1 testis development related 1 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 "LINC00532|lincRNA-NR_024015" "long intergenic non-protein coding RNA 532|testis development related gene 1" testis development related 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2011-12-13 2018-01-05 2022-03-23 732253 ENSG00000204091 OTTHUMG00000014660 uc063oiu.1 DQ168992 NR_160958 "19403381|22123530|24595048" 615676 TDRG1 HGNC:43642 +HGNC:11713 TDRKH tudor and KH domain containing protein-coding gene gene with protein product Approved 1q21.3 01q21.3 TDRD2 Tudor domain containing 780 1999-01-22 2003-11-07 2017-12-06 11022 ENSG00000182134 OTTHUMG00000013062 uc009wnb.2 AF227192 NM_006862 "CCDS41395|CCDS41394" Q9Y2W6 10767542 MGI:1919884 RGD:1311196 609501 HGNC:11713 "ENST00000368824.8|NM_001083965.2" +HGNC:40578 TDRKH-AS1 TDRKH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 RP11-98D18.9 Antisense RNAs 1987 2016-12-09 2021-10-08 109729141 ENSG00000203288 OTTHUMG00000013060 NR_146292 27835578 HGNC:40578 +HGNC:26951 TDRP testis development related protein protein-coding gene gene with protein product Approved 8p23.3 08p23.3 "INM01|TDRP1|TDRP2" C8orf42 chromosome 8 open reading frame 42 2005-07-28 2013-06-03 2013-06-03 2015-08-26 157695 ENSG00000180190 OTTHUMG00000163593 AY194292 NM_175075 "CCDS59090|CCDS47759" Q86YL5 20170638 MGI:1919398 RGD:1559733 619049 HGNC:26951 "ENST00000324079.11|NM_001384899.1" +HGNC:11714 TEAD1 TEA domain transcription factor 1 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 TEF-1 transcriptional enhancer factor 1 "TCF13|AA" "atrophia areata, peripapillary chorioretinal degeneration|TEA domain family member 1 (SV40 transcriptional enhancer factor)" TEA domain transcription factors 1183 1994-09-22 2016-01-15 2018-02-28 7003 ENSG00000187079 OTTHUMG00000165878 uc021qdx.2 X84839 NM_021961 CCDS7810 P28347 "1851669|9889009|15016762" MGI:101876 RGD:1549742 189967 120010 HGNC:11714 "ENST00000527636.7|NM_021961.6" HGNC:11714 +HGNC:11715 TEAD2 TEA domain transcription factor 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "TEF-4|ETF|TEF4" TEA domain family member 2 TEA domain transcription factors 1183 1998-10-09 2016-01-15 2020-04-01 8463 ENSG00000074219 OTTHUMG00000183174 uc002pnj.5 X94440 NM_003598 "CCDS58671|CCDS58670|CCDS12761|CCDS59406" Q15562 "9889009|8702974" MGI:104904 RGD:1593252 601729 HGNC:11715 "ENST00000593945.6|NM_001256660.2" +HGNC:11716 TEAD3 TEA domain transcription factor 3 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "TEF-5|ETFR-1" TEAD5 TEA domain family member 3 TEA domain transcription factors 1183 1998-08-10 2016-01-15 2016-10-05 7005 ENSG00000007866 OTTHUMG00000014571 uc063obu.1 X94439 NM_001395214 CCDS47414 Q99594 "9889009|9148898" MGI:109241 RGD:1311583 603170 HGNC:11716 +HGNC:11717 TEAD4 TEA domain transcription factor 4 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "TEF-3|TEFR-1|EFTR-2|RTEF-1" transcriptional enhancer factor 3 TCF13L1 TEA domain family member 4 TEA domain transcription factors 1183 1996-08-02 2016-01-15 2022-02-17 7004 ENSG00000197905 OTTHUMG00000168153 uc058jww.1 X94438 NM_003213 "CCDS31730|CCDS31729|CCDS41737" Q15561 "9889009|8921372" MGI:106907 RGD:1585671 601714 HGNC:11717 "ENST00000359864.8|NM_003213.4" +HGNC:11719 TEC tec protein tyrosine kinase protein-coding gene gene with protein product Approved 4p12-p11 04p12-p11 PSCTK4 "Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases" "682|741|1457" 1994-12-15 2018-02-13 7006 ENSG00000135605 OTTHUMG00000128623 uc003gxz.4 D29767 NM_003215 CCDS3481 P42680 7934162 MGI:98662 RGD:620973 600583 objectId:2238 HGNC:11719 "ENST00000381501.8|NM_003215.3" +HGNC:22214 TECPR1 tectonin beta-propeller repeat containing 1 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "DKFZP434B0335|FLJ23419|FLJ90593|KIAA1358" 2009-01-30 2014-11-19 25851 ENSG00000205356 OTTHUMG00000154273 uc003upg.5 NM_015395 CCDS47648 Q7Z6L1 MGI:1917631 RGD:1306873 614781 HGNC:22214 "ENST00000447648.7|NM_015395.3" +HGNC:19957 TECPR2 tectonin beta-propeller repeat containing 2 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 KIAA0329 KIAA0329 2003-11-21 2009-02-27 2009-02-27 2021-05-26 9895 ENSG00000196663 OTTHUMG00000171776 uc001ylw.2 AB019441 NM_014844 "CCDS32162|CCDS58337" O15040 "9205841|26431026" MGI:2144865 RGD:1307503 615000 321589 HGNC:19957 "ENST00000359520.12|NM_014844.5" HGNC:19957 +HGNC:4551 TECR trans-2,3-enoyl-CoA reductase protein-coding gene gene with protein product Approved 19p13.12 19p13.12 "TER|MRT14" very-long-chain enoyl-CoA reductase "SC2|GPSN2" glycoprotein, synaptic 2 "MicroRNA protein coding host genes|Steroid 5-alpha reductase family" "1691|1967" 1999-07-22 2009-07-21 2009-07-21 2018-08-07 9524 ENSG00000099797 OTTHUMG00000183290 uc002mza.4 AK001416 NM_138501 CCDS12313 Q9NZ01 "9653160|12482854" MGI:1915408 RGD:620376 610057 265497 1.3.1.93 HGNC:4551 "ENST00000215567.10|NM_138501.6" HGNC:4551 +HGNC:27365 TECRL trans-2,3-enoyl-CoA reductase like protein-coding gene gene with protein product Approved 4q13.1 04q13.1 "GPSN2L|SRD5A2L2|DKFZp313D0829|DKFZp313B2333|TERL" glycoprotein, synaptic 2-like Steroid 5-alpha reductase family 1967 2009-07-21 2017-02-20 2017-02-20 253017 ENSG00000205678 OTTHUMG00000160680 uc003hcv.4 AL833108 NM_001010874 "CCDS33990|CCDS87229" Q5HYJ1 27861123 MGI:2444966 RGD:1304608 617242 478126 HGNC:27365 "ENST00000381210.8|NM_001010874.5" HGNC:27365 +HGNC:44050 TECRP1 trans-2,3-enoyl-CoA reductase pseudogene 1 pseudogene pseudogene Approved 4q21.3 04q21.3 2012-05-30 2014-11-19 442777 ENSG00000235043 OTTHUMG00000160969 NG_005327 HGNC:44050 +HGNC:44051 TECRP2 trans-2,3-enoyl-CoA reductase pseudogene 2 pseudogene pseudogene Approved 4q28.1 04q28.1 2012-05-30 2014-11-19 391696 ENSG00000248565 OTTHUMG00000161388 NG_005322 PGOHUM00000245691 HGNC:44051 +HGNC:11720 TECTA tectorin alpha protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "DFNA12|DFNA8|DFNB21" 1997-08-22 2016-10-05 7007 ENSG00000109927 OTTHUMG00000149908 uc058imn.1 AF055136 NM_005422 CCDS8434 O75443 "9503015|9590290" MGI:109575 RGD:1309824 Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org 602574 120015 HGNC:11720 "ENST00000392793.6|NM_005422.4" HGNC:11720 +HGNC:11721 TECTB tectorin beta protein-coding gene gene with protein product Approved 10q25.2 10q25.2 MicroRNA protein coding host genes 1691 1997-08-22 2016-10-05 6975 ENSG00000119913 OTTHUMG00000019056 uc001kzr.3 AF312827 NM_058222 CCDS7571 Q96PL2 9079715 MGI:109574 RGD:1305835 602653 HGNC:11721 "ENST00000646139.2|NM_058222.3" +HGNC:20127 TEDC1 tubulin epsilon and delta complex 1 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 C14orf80 chromosome 14 open reading frame 80 2003-01-13 2017-07-13 2017-07-13 2018-09-10 283643 ENSG00000185347 OTTHUMG00000170426 uc001yrn.4 NM_001134875 "CCDS55955|CCDS45182|CCDS45181|CCDS45180" Q86SX3 "28796488|29459677" MGI:2144738 RGD:1596085 HGNC:20127 "ENST00000392523.9|NM_001367178.1" +HGNC:25849 TEDC2 tubulin epsilon and delta complex 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ13909 C16orf59 chromosome 16 open reading frame 59 MicroRNA protein coding host genes 1691 2006-02-17 2017-07-13 2017-07-13 2019-11-20 80178 ENSG00000162062 OTTHUMG00000128859 uc002cqh.4 AK023971 NM_025108 CCDS10468 Q7L2K0 29459677 MGI:1919266 RGD:2293499 HGNC:25849 "ENST00000361837.9|NM_025108.3" +HGNC:55403 TEDC2-AS1 TEDC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2021-01-06 2021-01-06 729652 ENSG00000259895 NR_135198 +HGNC:30233 TEDDM1 transmembrane epididymal protein 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "HE9|Epdd1|TMEM45C|EDDM9" "putative membrane protein HE9|transmembrane protein 45C|epididymal protein 9" 2005-06-03 2005-08-09 2017-05-22 127670 ENSG00000203730 OTTHUMG00000037398 uc001gpe.3 AJ515384 NM_172000 CCDS30953 Q5T9Z0 "MGI:2668439|MGI:3646829" RGD:1586783 HGNC:30233 "ENST00000367565.2|NM_172000.4" +HGNC:42447 TEDDM2P transmembrane epididymal protein 2, pseudogene pseudogene pseudogene Approved 1q25.3 01q25.3 TEDDM1P1 transmembrane epididymal protein 1 pseudogene 1 2011-07-28 2014-06-30 2014-06-30 2017-03-15 127671 ENSG00000233537 OTTHUMG00000037405 NG_030210 MGI:1923273 PGOHUM00000245115 HGNC:42447 +HGNC:11722 TEF TEF transcription factor, PAR bZIP family member protein-coding gene gene with protein product Approved 22q13.2 22q13.2 KIAA1655 thyrotroph embryonic factor "thyrotrophic embryonic factor|TEF, PAR bZIP transcription factor" PAR bZIP family 1248 1994-07-04 2019-01-25 2019-01-25 7008 ENSG00000167074 OTTHUMG00000150968 uc003azy.5 NM_003216 "CCDS14014|CCDS46716" Q10587 "7835883|15665112" MGI:98663 RGD:3841 188595 HGNC:11722 "ENST00000266304.9|NM_003216.4" +HGNC:26223 TEFM transcription elongation factor, mitochondrial protein-coding gene gene with protein product Approved 17q11.2 17q11.2 FLJ22729 C17orf42 chromosome 17 open reading frame 42 2005-05-24 2011-12-12 2011-12-12 2016-04-04 79736 ENSG00000172171 OTTHUMG00000179029 uc002hfu.3 NM_024683 CCDS42291 Q96QE5 "11468690|10843809|21278163|25690892" MGI:1915800 RGD:1306595 616422 HGNC:26223 "ENST00000581216.6|NM_024683.4" +HGNC:11724 TEK TEK receptor tyrosine kinase protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "TIE2|TIE-2|VMCM1|CD202b" angiopoietin-1 receptor VMCM "venous malformations, multiple cutaneous and mucosal|TEK tyrosine kinase, endothelial" "Receptor tyrosine kinases|CD molecules|Fibronectin type III domain containing|Immunoglobulin like domain containing" "321|471|555|594" 1994-05-24 2016-01-20 2018-08-07 7010 ENSG00000120156 OTTHUMG00000019712 uc003zqi.5 L06139 NM_000459 "CCDS6519|CCDS78389|CCDS75825" Q02763 "1312667|7833915" MGI:98664 RGD:620980 600221 120020 objectId:1842 CD202b HGNC:11724 "ENST00000380036.10|NM_000459.5" HGNC:11724 +HGNC:15534 TEKT1 tektin 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 Tektins 949 2001-04-25 2016-10-05 83659 ENSG00000167858 OTTHUMG00000102063 uc002gdt.4 NM_053285 CCDS11083 Q969V4 11606253 MGI:1333819 RGD:619913 609002 HGNC:15534 "ENST00000338694.7|NM_053285.2" +HGNC:11725 TEKT2 tektin 2 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 TEKTB1 tektin 2 (testicular) Tektins 949 2000-02-16 2016-01-25 2016-01-25 27285 ENSG00000092850 OTTHUMG00000007629 uc001bzr.3 AB033823 NM_014466 CCDS401 Q9UIF3 "12029069|11751288" MGI:1346335 RGD:1311065 608953 HGNC:11725 "ENST00000207457.8|NM_014466.3" +HGNC:14293 TEKT3 tektin 3 protein-coding gene gene with protein product Approved 17p12 17p12 FLJ32828 Tektins 949 2000-12-22 2014-11-19 64518 ENSG00000125409 OTTHUMG00000058965 uc002gon.4 AF334676 NM_031898 CCDS11169 Q9BXF9 "11381029|14735490" MGI:1918312 RGD:1310582 612683 HGNC:14293 "ENST00000395930.6|NM_031898.3" +HGNC:31012 TEKT4 tektin 4 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 MGC27019 Tektins 949 2005-12-06 2016-10-05 150483 ENSG00000163060 OTTHUMG00000130396 uc002stw.3 AK097438 NM_144705 CCDS2005 Q8WW24 MGI:1919090 RGD:1308075 HGNC:31012 "ENST00000295201.5|NM_144705.4" +HGNC:37711 TEKT4P1 tektin 4 pseudogene 1 pseudogene pseudogene Approved Yq11.1 Yq11.1 2010-02-03 2014-11-19 727768 XM_002344445 PGOHUM00000233737 HGNC:37711 +HGNC:40046 TEKT4P2 tektin 4 pseudogene 2 pseudogene pseudogene Approved 21p11.2 21p11.2 MAFIPL MAFF interacting protein-like 2011-05-23 2011-06-14 2011-06-14 2021-10-07 100132288 ENSG00000188681 OTTHUMG00000172149 NR_038327 PGOHUM00000238998 HGNC:40046 +HGNC:42330 TEKT4P3 tektin 4 pseudogene 3 pseudogene pseudogene Approved 2q21.1 02q21.1 2011-06-14 2019-10-16 100873355 ENSG00000271435 NG_032509 PGOHUM00000240298 HGNC:42330 +HGNC:26554 TEKT5 tektin 5 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "FLJ32871|CT149" Tektins 949 2007-01-19 2014-11-19 146279 ENSG00000153060 OTTHUMG00000129750 uc002czz.2 NM_144674 CCDS10542 Q96M29 MGI:1917676 RGD:1307081 618686 HGNC:26554 "ENST00000283025.7|NM_144674.2" +HGNC:34496 TEKTIP1 tektin bundle interacting protein 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 LOC100128569 C19orf71 chromosome 19 open reading frame 71 2008-09-16 2022-02-28 2022-02-28 2022-02-28 100128569 ENSG00000183397 OTTHUMG00000180764 uc010xhm.3 NM_001135580 CCDS45918 A6NCJ1 34715025 MGI:1921072 RGD:1593449 HGNC:34496 "ENST00000329493.6|NM_001135580.2" +HGNC:29099 TELO2 telomere maintenance 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "KIAA0683|hCLK2|TEL2" TEL2, telomere maintenance 2, homolog (S. cerevisiae) "TTT complex|Armadillo like helical domain containing" "1320|1492" 2006-09-25 2013-08-06 2021-05-26 9894 ENSG00000100726 OTTHUMG00000044471 uc002cly.4 AL080126 NM_016111 CCDS32363 Q9Y4R8 "9734811|11230166|12670948" MGI:1918968 RGD:1305553 611140 HGNC:29099 "ENST00000262319.11|NM_016111.4" HGNC:29099 +HGNC:53456 TEMN3-AS1 TENM3 antisense transcript 1 non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 Antisense RNAs 1987 2017-04-24 2017-04-24 2017-04-24 2017-04-24 105377573 ENSG00000251336 OTTHUMG00000160718 NR_147188 HGNC:53456 +HGNC:37242 TEN1 TEN1 subunit of CST complex protein-coding gene gene with protein product Approved 17q25.1 17q25.1 FLJ39785 C17orf106 "chromosome 17 open reading frame 106|TEN1 telomerase capping complex subunit homolog (S. cerevisiae)|TEN1 CST complex subunit|TEN1, CST complex subunit" CST complex 1343 2009-09-10 2011-06-14 2019-01-25 2019-01-25 100134934 ENSG00000257949 OTTHUMG00000132686 uc060kgd.1 NM_001113324 CCDS45780 Q86WV5 19854130 MGI:1916785 RGD:1311078 613130 HGNC:37242 "ENST00000397640.6|NM_001113324.3" +HGNC:44420 TEN1-CDK3 TEN1-CDK3 readthrough (NMD candidate) other readthrough Approved 17q25.1 17q25.1 TEN1-CDK3 readthrough (non-protein coding) 2012-10-08 2013-05-09 2013-05-09 100529145 ENSG00000261408 OTTHUMG00000170136 uc010dgt.3 NR_037709 HGNC:44420 +HGNC:8117 TENM1 teneurin transmembrane protein 1 protein-coding gene gene with protein product Approved Xq25 Xq25 "TEN-M1|TEN1" "ODZ3|TNM|ODZ1" "tenascin M|odz, odd Oz/ten-m homolog 1 (Drosophila)" 1999-06-21 2012-10-02 2012-10-02 2020-04-02 10178 ENSG00000009694 OTTHUMG00000022721 uc004euj.4 AF100772 NM_014253 "CCDS55488|CCDS14609" Q9UKZ4 "10331952|10341219" MGI:1345185 RGD:1561678 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ODZ1 300588 HGNC:8117 HGNC:8117 +HGNC:29943 TENM2 teneurin transmembrane protein 2 protein-coding gene gene with protein product Approved 5q34 05q34 "KIAA1127|Ten-M2|TEN2" ODZ2 odz, odd Oz/ten-m homolog 2 (Drosophila) 2004-06-24 2012-10-02 2012-10-02 2019-09-06 57451 ENSG00000145934 OTTHUMG00000162928 uc031slx.2 AB032953 NM_001122679 CCDS83040 Q9NT68 10625539 MGI:1345184 RGD:727907 610119 HGNC:29943 +HGNC:56066 TENM2-AS1 TENM2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q34 05q34 Antisense RNAs 1987 2021-12-13 2021-12-13 101927862 ENSG00000253978 NR_109894 +HGNC:29944 TENM3 teneurin transmembrane protein 3 protein-coding gene gene with protein product Approved 4q34.3-q35.1 04q34.3-q35.1 "Ten-M3|KIAA1455|TEN3" ODZ3 odz, odd Oz/ten-m homolog 3 (Drosophila) MicroRNA protein coding host genes 1691 2004-06-24 2012-10-02 2012-10-02 2021-05-26 55714 ENSG00000218336 OTTHUMG00000160682 uc003ivd.2 AF195420 NM_001080477 CCDS47165 Q9P273 "10331952|10625539" MGI:1345183 RGD:1306641 610083 308222 HGNC:29944 "ENST00000511685.6|NM_001080477.4" HGNC:29944 +HGNC:28076 TENM3-AS1 TENM3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q34.3 04q34.3 Antisense RNAs 1987 2018-09-28 2018-09-28 90768 ENSG00000177822 OTTHUMG00000133641 NR_125905 12477932 HGNC:28076 +HGNC:29945 TENM4 teneurin transmembrane protein 4 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "KIAA1302|Ten-M4|TEN4" ODZ4 odz, odd Oz/ten-m homolog 4 (Drosophila) MicroRNA protein coding host genes 1691 2004-06-24 2012-10-02 2012-10-02 2019-09-06 26011 ENSG00000149256 OTTHUMG00000166770 uc001ozl.5 AB037723 NM_001098816 CCDS44688 Q6N022 "12000766|10625539" MGI:2447063 RGD:1304658 610084 448840 HGNC:29945 "ENST00000278550.12|NM_001098816.3" HGNC:29945 +HGNC:26776 TENT2 terminal nucleotidyltransferase 2 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "FLJ38499|GLD2|TUT2" TUTase2 PAPD4 "PAP associated domain containing 4|poly(A) RNA polymerase D4, non-canonical" "Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "1318|1619" 2004-04-07 2018-04-20 2018-04-20 2020-11-17 167153 ENSG00000164329 OTTHUMG00000108163 uc010jaf.1 AL833136 NM_173797 "CCDS75265|CCDS75266|CCDS4048" Q6PIY7 "21813625|26926106" MGI:2140950 RGD:1306438 614121 2.7.7.19 HGNC:26776 "ENST00000453514.6|NM_001114394.3" +HGNC:16705 TENT4A terminal nucleotidyltransferase 4A protein-coding gene gene with protein product Approved 5p15.31 05p15.31 "POLK|TRF4|LAK-1|TRF4-1" "topoisomerase-related function protein 4-1|polymerase (DNA-directed) sigma|DNA polymerase kappa|TUTase5" "POLS|PAPD7" "polymerase (DNA directed) sigma|PAP associated domain containing 7|poly(A) RNA polymerase D7, non-canonical" "Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "1318|1619" 2001-09-27 2018-04-20 2018-04-20 2018-04-20 11044 ENSG00000112941 OTTHUMG00000090457 uc003jdx.2 AF089896 NM_006999 CCDS3871 Q5XG87 "10066793|10926539|23376078" MGI:2682295 RGD:1307356 605198 2.7.7.19 HGNC:16705 "ENST00000230859.8|NM_006999.6" +HGNC:30758 TENT4B terminal nucleotidyltransferase 4B protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "TRF4-2|TUT3" TUTase3 PAPD5 "PAP associated domain containing 5|poly(A) RNA polymerase D5, non-canonical" "Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "1318|1619" 2004-04-07 2018-04-20 2018-04-20 2018-04-20 64282 ENSG00000121274 OTTHUMG00000173452 uc010vgo.3 AF089897 NM_022447 CCDS54006 Q8NDF8 "10066793|21788334" MGI:1917820 RGD:1309587 605540 2.7.7.19 HGNC:30758 "ENST00000561678.7|NM_001365324.3" +HGNC:18345 TENT5A terminal nucleotidyltransferase 5A protein-coding gene gene with protein product Approved 6q14.1 06q14.1 FLJ20037 "C6orf37|FAM46A" "chromosome 6 open reading frame 37|family with sequence similarity 46 member A" Terminal nucleotidyltransferases 1619 2002-07-08 2018-04-20 2018-04-20 2018-04-20 55603 ENSG00000112773 OTTHUMG00000015097 uc003pjg.4 AF350451 NM_017633 CCDS34489 Q96IP4 "12054608|17803723|27060136" MGI:2670964 RGD:1311381 611357 HGNC:18345 "ENST00000320172.11|NM_017633.3" HGNC:18345 +HGNC:28273 TENT5B terminal nucleotidyltransferase 5B protein-coding gene gene with protein product Approved 1p36.11 01p36.11 MGC16491 FAM46B "family with sequence similarity 46, member B|family with sequence similarity 46 member B" Terminal nucleotidyltransferases 1619 2004-08-18 2018-04-20 2018-04-20 2019-03-19 115572 ENSG00000158246 OTTHUMG00000004278 uc010ofj.3 AK122816 NM_052943 CCDS294 Q96A09 30057901 MGI:2140500 RGD:1308967 619069 HGNC:28273 "ENST00000289166.6|NM_052943.4" +HGNC:24712 TENT5C terminal nucleotidyltransferase 5C protein-coding gene gene with protein product Approved 1p12 01p12 FLJ20202 FAM46C "family with sequence similarity 46, member C|family with sequence similarity 46 member C" Terminal nucleotidyltransferases 1619 2004-08-18 2018-04-20 2018-04-20 2019-03-19 54855 ENSG00000183508 OTTHUMG00000013703 uc001ehe.4 BC036516 NM_017709 CCDS896 Q5VWP2 30057901 MGI:1921895 RGD:1359446 TENT5C 613952 HGNC:24712 "ENST00000369448.4|NM_017709.4" +HGNC:55656 TENT5C-DT TENT5C divergent transcript non-coding RNA RNA, long non-coding Approved 1p12 01p12 Divergent transcripts 1990 2021-06-30 2021-06-30 100996263 ENSG00000236866 NR_121626 +HGNC:28399 TENT5D terminal nucleotidyltransferase 5D protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "MGC26999|CT1.26|CT112" cancer/testis antigen 112 FAM46D "family with sequence similarity 46, member D|family with sequence similarity 46 member D" Terminal nucleotidyltransferases 1619 2004-08-18 2018-04-20 2018-04-20 2020-04-02 169966 ENSG00000174016 OTTHUMG00000021902 uc004edl.1 BX537938 NM_152630 CCDS14446 Q8NEK8 30057901 MGI:2685223 RGD:1559589 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FAM46D 300976 HGNC:28399 +HGNC:11726 TEP1 telomerase associated protein 1 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "TP1|TLP1|VAULT2|p240|TROVE1" TROVE domain family, member 1 WD repeat domain containing 362 1997-09-05 2016-01-19 2016-01-19 7011 ENSG00000129566 OTTHUMG00000029515 uc001vxe.4 NM_007110 "CCDS9548|CCDS81789" Q99973 9403057 MGI:109573 RGD:3869 601686 HGNC:11726 "ENST00000262715.10|NM_007110.5" +HGNC:33745 TEPP testis, prostate and placenta expressed protein-coding gene gene with protein product Approved 16q21 16q21 2009-04-20 2018-02-22 374739 ENSG00000159648 OTTHUMG00000133463 uc002emv.5 BC104458 NM_199456 "CCDS10790|CCDS45496" Q6URK8 "14652002|19548082" MGI:1920657 RGD:735198 610264 HGNC:33745 "ENST00000441824.4|NM_199456.3" +HGNC:26458 TEPSIN TEPSIN adaptor related protein complex 4 accessory protein protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ31528 AP-4 accessory protein "C17orf56|ENTHD2" "chromosome 17 open reading frame 56|ENTH domain containing 2" 2005-12-15 2016-06-07 2019-01-22 2019-01-22 146705 ENSG00000167302 OTTHUMG00000177866 uc002jzu.2 AK056090 NM_144679 "CCDS86648|CCDS11779" Q96N21 22472443 MGI:1926027 RGD:1307410 HGNC:26458 "ENST00000637944.2|NM_001363764.2" +HGNC:26675 TERB1 telomere repeat binding bouquet formation protein 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 FLJ35894 CCDC79 coiled-coil domain containing 79 "Myb/SANT domain containing|Armadillo like helical domain containing" "532|1492" 2006-08-22 2016-05-17 2016-05-17 2016-05-17 283847 ENSG00000249961 OTTHUMG00000133562 uc010viv.2 AK093213 NM_001136505 Q8NA31 24413433 MGI:2443187 RGD:1310400 617332 HGNC:26675 "ENST00000433154.6|NM_001136505.2" +HGNC:28520 TERB2 telomere repeat binding bouquet formation protein 2 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 MGC33951 C15orf43 chromosome 15 open reading frame 43 2006-01-17 2016-05-17 2016-05-17 2016-05-17 145645 ENSG00000167014 OTTHUMG00000131264 uc001zuk.5 BC029537 NM_152448 CCDS10115 Q8NHR7 26548954 MGI:1921651 RGD:1593334 617131 HGNC:28520 "ENST00000340827.4|NM_152448.3" +HGNC:11727 TERC telomerase RNA component non-coding RNA RNA, misc Approved 3q26.2 03q26.2 "TR|hTR|TRC3|SCARNA19" small Cajal body-specific RNA 19 1997-07-25 2021-05-26 7012 ENSG00000270141 OTTHUMG00000184024 uc003ffr.2 "U86046|AF221907" NR_001566 "7544491|16319170" RGD:727802 LRG_347|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_347.xml 602322 SR0000311 138457 HGNC:11727 HGNC:11727 +HGNC:11728 TERF1 telomeric repeat binding factor 1 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 "PIN2|TRF1|TRF" TRBF1 telomeric repeat binding factor (NIMA-interacting) 1 "Myb/SANT domain containing|Shelterin complex" "532|1334" 1997-11-20 2016-02-26 2016-02-26 7013 ENSG00000147601 OTTHUMG00000164522 uc003xzd.3 U74382 NM_017489 "CCDS6210|CCDS6211" P54274 9391075 MGI:109634 RGD:1311574 600951 HGNC:11728 "ENST00000276603.10|NM_017489.3" +HGNC:16733 TERF1P1 TERF1 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 TERF1P "telomeric repeat binding factor (NIMA-interacting) 1 pseudogene|telomeric repeat binding factor 1 pseudogene 1" 2003-10-01 2010-05-18 2019-10-16 2019-10-16 348567 ENSG00000173231 OTTHUMG00000074234 NG_003158 PGOHUM00000239134 HGNC:16733 +HGNC:38110 TERF1P2 TERF1 pseudogene 2 pseudogene pseudogene Approved 18p11 18p11 "telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 2|telomeric repeat binding factor 1 pseudogene 2" 2010-05-18 2019-10-16 2019-10-16 646359 ENSG00000187589 OTTHUMG00000178678 NG_023014 HGNC:38110 +HGNC:38499 TERF1P3 TERF1 pseudogene 3 pseudogene pseudogene Approved 4q28.3 04q28.3 "telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 3|telomeric repeat binding factor 1 pseudogene 3" 2010-05-18 2019-10-16 2019-10-16 646316 ENSG00000249311 OTTHUMG00000161240 XR_038210 PGOHUM00000245704 HGNC:38499 +HGNC:38500 TERF1P4 TERF1 pseudogene 4 pseudogene pseudogene Approved Xq21.1 Xq21.1 "telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 4|telomeric repeat binding factor 1 pseudogene 4" 2010-05-18 2019-10-16 2019-10-16 648283 ENSG00000215102 OTTHUMG00000021921 NG_022613 PGOHUM00000241417 HGNC:38500 +HGNC:39686 TERF1P5 TERF1 pseudogene 5 pseudogene pseudogene Approved 13q11 13q11 "telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 5|telomeric repeat binding factor 1 pseudogene 5" 2011-03-23 2019-10-16 2019-10-16 283523 ENSG00000226361 OTTHUMG00000016455 NG_011338 PGOHUM00000248500 HGNC:39686 +HGNC:54602 TERF1P6 TERF1 pseudogene 6 pseudogene pseudogene Approved 2q32.2 02q32.2 2019-10-16 2019-10-16 100287965 ENSG00000223824 NG_021542 +HGNC:54603 TERF1P7 TERF1 pseudogene 7 pseudogene pseudogene Approved Xq13.3 Xq13.3 2019-10-16 2019-10-16 646127 ENSG00000232186 +HGNC:11729 TERF2 telomeric repeat binding factor 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 TRF2 TRBF2 "Myb/SANT domain containing|Shelterin complex" "532|1334" 1997-11-20 2016-04-25 7014 ENSG00000132604 OTTHUMG00000137566 uc002exd.5 NM_005652 CCDS10879 Q15554 "9326950|10226653" MGI:1195972 RGD:1310881 602027 HGNC:11729 "ENST00000254942.8|NM_005652.5" +HGNC:19246 TERF2IP TERF2 interacting protein protein-coding gene gene with protein product Approved 16q23.1 16q23.1 RAP1 telomeric repeat binding factor 2, interacting protein Shelterin complex 1334 2002-09-18 2016-02-26 2021-04-13 54386 ENSG00000166848 OTTHUMG00000177136 uc002fet.3 AK000669 NM_018975 CCDS32491 Q9NYB0 10850490 MGI:1929871 RGD:1309684 LRG_1084|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1084.xml 605061 451445 HGNC:19246 "ENST00000300086.5|NM_018975.4" +HGNC:19258 TERF2IPP1 TERF2 interacting protein pseudogene 1 pseudogene pseudogene Approved 22q11.2 22q11.2 telomeric repeat binding factor 2, interacting protein pseudogene 1 2002-09-18 2016-02-26 2016-02-26 644899 NG_017137 HGNC:19258 +HGNC:52952 TERLR1 TERT regulating lncRNA 1 non-coding RNA RNA, long non-coding Approved 5p15.33 05p15.33 BC032469 Long non-coding RNAs with non-systematic symbols 1992 2021-11-25 2021-11-25 101928857 ENSG00000249201 OTTHUMG00000161928 NR_109911 "26549025|27726103" +HGNC:11730 TERT telomerase reverse transcriptase protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "TRT|TP2|TCS1|hEST2|EST2" 1998-01-21 2021-05-26 7015 ENSG00000164362 OTTHUMG00000090357 uc003jcb.2 AF015950 NM_001193376 "CCDS3861|CCDS54831" O14746 9252327 MGI:1202709 RGD:70494 LRG_343|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_343.xml TERT 187270 138451 HGNC:11730 "ENST00000310581.10|NM_198253.3" HGNC:11730 +HGNC:14620 TES testin LIM domain protein protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "DKFZP586B2022|TESS-2|TESTIN" testis derived transcript (3 LIM domains) LIM domain containing 1218 2001-06-29 2015-02-13 2015-02-13 26136 ENSG00000135269 OTTHUMG00000023092 uc003vho.3 AJ250865 NM_015641 "CCDS5764|CCDS5763" Q9UGI8 10950921 MGI:105081 RGD:1566346 606085 HGNC:14620 "ENST00000358204.9|NM_015641.4" +HGNC:26065 TESC tescalcin protein-coding gene gene with protein product Approved 12q24.22 12q24.22 "TSC|FLJ20607|CHP3" calcineurin-like EF hand protein 3 EF-hand domain containing 863 2006-02-07 2016-04-25 54997 ENSG00000088992 OTTHUMG00000144168 uc001twh.4 AF443207 NM_017899 "CCDS9183|CCDS53835" Q96BS2 "11145610|11696366|12809501|14661968" MGI:1930803 RGD:1566317 611585 HGNC:26065 "ENST00000335209.12|NM_017899.4" +HGNC:51142 TESC-AS1 TESC antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 12q24.22 12q24.22 Antisense RNAs 1987 2014-07-30 2014-07-30 2014-07-30 101928244 ENSG00000258285 OTTHUMG00000169494 NR_120464 TESC-AS1 HGNC:51142 +HGNC:11731 TESK1 testis associated actin remodelling kinase 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 testis specific kinase-1 testis-specific kinase 1 "LIMK/TESK kinase family|MicroRNA protein coding host genes" "1617|1691" 1997-08-28 2018-03-08 2018-03-08 7016 ENSG00000107140 OTTHUMG00000019863 uc064swy.1 D50863 NM_006285 CCDS6580 Q15569 "8537404|11294912" MGI:1201675 RGD:62059 601782 objectId:2239 2.7.12.1 HGNC:11731 "ENST00000336395.6|NM_006285.3" +HGNC:11732 TESK2 testis associated actin remodelling kinase 2 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 testis-specific kinase 2 LIMK/TESK kinase family 1617 1999-06-18 2018-03-08 2018-03-08 10420 ENSG00000070759 OTTHUMG00000007680 uc001cns.2 AJ132545 NM_007170 CCDS41323 Q96S53 "10512679|11418599" MGI:2385204 RGD:619984 604746 objectId:2240 2.7.12.1 HGNC:11732 "ENST00000372086.4|NM_007170.3" +HGNC:7446 TESMIN testis expressed metallothionein like protein protein-coding gene gene with protein product Approved 11q13.3 11q13.3 CXCDC2 CXC domain containing 2 MTL5 metallothionein-like 5, testis-specific (tesmin) 1999-02-08 2016-04-29 2016-04-29 2016-04-29 9633 ENSG00000132749 OTTHUMG00000167891 uc001ooc.4 U86074 NM_004923 "CCDS8184|CCDS44661" Q9Y4I5 1091092 MGI:1340029 RGD:1309788 604374 HGNC:7446 "ENST00000255087.10|NM_004923.3" +HGNC:29109 TESPA1 thymocyte expressed, positive selection associated 1 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 ITPRID3 KIAA0748 KIAA0748 2006-01-24 2012-03-21 2012-03-21 2018-06-15 9840 ENSG00000135426 OTTHUMG00000165407 uc010spd.3 AB018291 NM_001098815 "CCDS44913|CCDS58240" A2RU30 9872452 MGI:1914846 615664 HGNC:29109 "ENST00000449076.6|NM_001136030.3" +HGNC:29484 TET1 tet methylcytosine dioxygenase 1 protein-coding gene gene with protein product Approved 10q21.3 10q21.3 "LCX|KIAA1676|bA119F7.1" "leukemia-associated protein with a CXXC domain|ten-eleven translocation 1" CXXC6 "CXXC zinc finger 6|tet oncogene 1" "Zinc fingers CXXC-type|Tet methylcytosine dioxygenase family" "136|2049" 2004-02-18 2008-03-12 2011-09-30 2021-03-30 80312 ENSG00000138336 OTTHUMG00000018359 uc001jok.5 AF430147 NM_030625 CCDS7281 Q8NFU7 "12124344|12646957" MGI:1098693 RGD:1310993 TET1 607790 1.14.11.n2 HGNC:29484 "ENST00000373644.5|NM_030625.3" +HGNC:33586 TET1P1 tet methylcytosine dioxygenase 1 pseudogene 1 pseudogene pseudogene Approved 13q31.2 13q31.2 CXXC6P1 "CXXC zinc finger 6 pseudogene 1|tet oncogene 1 pseudogene 1" 2007-08-08 2009-12-17 2011-09-30 2011-12-01 441662 ENSG00000232204 OTTHUMG00000017168 NG_006594 PGOHUM00000248454 HGNC:33586 +HGNC:25941 TET2 tet methylcytosine dioxygenase 2 protein-coding gene gene with protein product Approved 4q24 04q24 FLJ20032 ten-eleven translocation 2 KIAA1546 "KIAA1546|tet oncogene family member 2" Tet methylcytosine dioxygenase family 2049 2006-06-20 2008-03-12 2011-09-30 2021-05-26 54790 ENSG00000168769 OTTHUMG00000131213 uc021xqk.1 AB046766 NM_017628 "CCDS47120|CCDS3666" Q6N021 "10997877|12646957" MGI:2443298 RGD:1311625 LRG_626|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_626.xml TET2 612839 268325 1.14.11.n2 HGNC:25941 "ENST00000380013.9|NM_001127208.3" +HGNC:41125 TET2-AS1 TET2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 TET2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-30 2012-08-15 2014-11-19 104384744 ENSG00000251586 OTTHUMG00000160996 uc062ysg.1 NR_126420 TET2-AS1 HGNC:41125 +HGNC:28313 TET3 tet methylcytosine dioxygenase 3 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "MGC22014|hCG_40738" ten-eleven translocation 3 tet oncogene family member 3 "Zinc fingers CXXC-type|Tet methylcytosine dioxygenase family" "136|2049" 2008-03-12 2011-09-30 2021-05-26 200424 ENSG00000187605 OTTHUMG00000152823 uc002skb.6 NM_001287491 CCDS46339 O43151 "9455477|23697932" MGI:2446229 RGD:1590584 613555 1.14.11.n2 HGNC:28313 "ENST00000409262.8|NM_001287491.2" HGNC:28313 +HGNC:30884 TEX2 testis expressed 2 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "HT008|TMEM96|KIAA1738" transmembrane protein 96 testis expressed sequence 2 2005-12-15 2007-03-13 2020-08-10 55852 ENSG00000136478 OTTHUMG00000178881 uc002jed.5 AB051525 NM_018469 "CCDS11658|CCDS74131" Q8IWB9 "16449791|27489577|31186485" MGI:102465 RGD:1305112 HGNC:30884 "ENST00000584379.6|NM_001288732.2" +HGNC:29585 TEX9 testis expressed 9 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 testis expressed sequence 9 2005-07-21 2007-03-13 2014-11-19 374618 ENSG00000151575 OTTHUMG00000132035 uc002adp.5 BC028119 NM_198524 "CCDS66776|CCDS10157" Q8N6V9 MGI:1201610 RGD:1304772 HGNC:29585 +HGNC:25988 TEX10 testis expressed 10 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "FLJ20287|bA208F1.2|Ipi1" "testis expressed gene 10|testis expressed sequence 10" "Large ribosomal subunit biogenesis complex|Armadillo like helical domain containing" "1301|1492" 2004-02-13 2007-03-13 2019-03-19 54881 ENSG00000136891 OTTHUMG00000020366 uc004bas.4 AB060968 NM_017746 "CCDS55330|CCDS6748" Q9NXF1 21326211 MGI:1344413 RGD:1312045 616717 HGNC:25988 "ENST00000374902.9|NM_017746.4" +HGNC:11733 TEX11 testis expressed 11 protein-coding gene gene with protein product Approved Xp11 Xp11 "TSGA3|TGC1|ZIP4|MZIP4|Spo22" testis expressed sequence 11 2000-06-16 2007-03-13 2021-05-26 56159 ENSG00000120498 OTTHUMG00000021782 uc004dyl.4 AF285594 NM_001003811 "CCDS35323|CCDS43968" Q8IYF3 11279525 MGI:1933237 RGD:1560239 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TEX11 300311 431878 HGNC:11733 "ENST00000374333.7|NM_031276.3" HGNC:11733 +HGNC:11734 TEX12 testis expressed 12 protein-coding gene gene with protein product Approved 11q23.1 11q23.1 testis expressed sequence 12 2000-06-16 2007-03-13 2017-11-24 56158 ENSG00000150783 OTTHUMG00000167008 uc001pnc.4 AF285600 NM_031275 CCDS31679 Q9BXU0 11279525 MGI:1913904 RGD:1597300 605791 HGNC:11734 "ENST00000280358.5|NM_031275.4" +HGNC:11735 TEX13A testis expressed 13A protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 testis expressed sequence 13A Zinc fingers RANBP2-type 89 2000-06-16 2007-03-13 2020-04-02 56157 ENSG00000268629 OTTHUMG00000022133 uc033epz.1 AF285597 NM_031274 CCDS76005 Q9BXU3 11279525 MGI:1915194 RGD:2323888 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TEX13A 300312 HGNC:11735 "ENST00000600991.6|NM_031274.5" +HGNC:11736 TEX13B testis expressed 13B protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "TSGA5|TGC3B" testis expressed sequence 13B 2000-06-16 2007-03-13 2020-04-02 56156 ENSG00000170925 OTTHUMG00000022174 uc004enn.1 AF285598 NM_031273 CCDS14534 Q9BXU2 11279525 MGI:1890544 RGD:1587018 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TEX13B 300313 HGNC:11736 "ENST00000302917.1|NM_031273.2" +HGNC:52277 TEX13C TEX13 family member C protein-coding gene gene with protein product Approved Xq25 Xq25 2015-12-14 2015-12-14 100129520 ENSG00000282815 OTTHUMG00000191426 NM_001195272 CCDS83488 A0A0J9YWL9 MGI:2685208 RGD:1563975 HGNC:52277 +HGNC:52278 TEX13D TEX13 family member D protein-coding gene gene with protein product Approved Xq25 Xq25 2015-12-14 2021-05-11 100132015 ENSG00000282419 OTTHUMG00000190648 NM_001355534 CCDS87773 A0A0J9YY54 27250503 MGI:3780650 HGNC:52278 "ENST00000632372.3|NM_001355534.2" +HGNC:11737 TEX14 testis expressed 14, intercellular bridge forming factor protein-coding gene gene with protein product Approved 17q22 17q22 CT113 cancer/testis antigen 113 "testis expressed sequence 14|testis expressed 14" Ankyrin repeat domain containing 403 2000-06-16 2016-05-06 2016-05-06 56155 ENSG00000121101 OTTHUMG00000179245 uc010dcz.3 AF285601 NM_001201457 "CCDS32693|CCDS56042|CCDS32692" Q8IWB6 "11279525|12711554|26392564" MGI:1933227 RGD:1305437 605792 objectId:2241 HGNC:11737 "ENST00000349033.10|NM_031272.5" HGNC:11737 +HGNC:11738 TEX15 testis expressed 15, meiosis and synapsis associated protein-coding gene gene with protein product Approved 8p12 08p12 CT42 cancer/testis antigen 42 "testis expressed sequence 15|testis expressed 15" 2000-06-16 2016-12-13 2016-12-13 56154 ENSG00000133863 OTTHUMG00000163881 uc003xil.4 AF285605 NM_001350162 CCDS87593 Q9BXT5 "11279525|26199321|18283110" MGI:1934816 RGD:1311266 605795 HGNC:11738 "ENST00000643185.2|NM_001350162.2" HGNC:11738 +HGNC:37957 TEX16P testis expressed 16, pseudogene pseudogene pseudogene Approved Xq21.1 Xq21.1 2010-03-12 2014-11-19 100499435 NG_023465 20210993 MGI:1890545 RGD:1559987 HGNC:37957 +HGNC:33802 TEX19 testis expressed 19 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 FLJ35767 2009-04-14 2016-04-04 400629 ENSG00000182459 OTTHUMG00000132857 uc002keq.3 BC016939 NM_207459 CCDS11809 Q8NA77 "23674551|18096721" "MGI:1918206|MGI:1920929" RGD:1588608 615647 HGNC:33802 "ENST00000333437.5|NM_207459.4" +HGNC:35455 TEX21P testis expressed 21, pseudogene pseudogene pseudogene Approved 14q23.3 14q23.3 2010-03-12 2020-08-14 441687 ENSG00000234911 OTTHUMG00000154262 XR_018333 20210993 MGI:1931131 HGNC:35455 +HGNC:40026 TEX22 testis expressed 22 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 2011-05-05 2011-05-05 647310 ENSG00000226174 OTTHUMG00000156137 uc001yqw.3 NM_001195082 CCDS53916 C9J3V5 MGI:1922921 RGD:1597257 HGNC:40026 "ENST00000451127.3|NM_001195082.2" +HGNC:28622 TEX26 testis expressed 26 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 MGC40178 C13orf26 chromosome 13 open reading frame 26 2006-04-03 2012-02-06 2012-02-06 2014-11-19 122046 ENSG00000175664 OTTHUMG00000016682 uc001uti.4 BC030277 NM_152325 CCDS9339 Q8N6G2 12477932 MGI:1923110 RGD:1560846 HGNC:28622 "ENST00000380473.8|NM_152325.3" +HGNC:42784 TEX26-AS1 TEX26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.3 13q12.3 LINC00447 "long intergenic non-protein coding RNA 447|TEX26 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2011-08-18 2012-02-06 2012-08-15 2016-11-11 100507064 ENSG00000224743 OTTHUMG00000016681 uc001utg.3 BC042736 NR_038288 TEX26-AS1 HGNC:42784 +HGNC:2563 TEX28 testis expressed 28 protein-coding gene gene with protein product Approved Xq28 Xq28 fTEX CXorf2 chromosome X open reading frame 2 1998-08-06 2007-03-13 2007-03-13 2016-04-25 1527 ENSG00000278057 OTTHUMG00000022654 uc033fbb.1 U93720 NM_001586 CCDS14744 O15482 "9268643|15378397" MGI:2686384 RGD:1582832 300092 HGNC:2563 +HGNC:33356 TEX28P1 TEX28 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 pTEX testis expressed 28 pseudogene 1 2007-03-13 2021-10-15 2021-10-15 728447 ENSG00000274962 OTTHUMG00000024230 NG_005787 O15482 15378397 PGOHUM00000304912 HGNC:33356 +HGNC:33357 TEX28P2 TEX28 pseudogene 2 pseudogene pseudogene Approved Xq28 Xq28 "pTEX|CXorf2B" testis expressed 28 pseudogene 2 2007-03-13 2021-10-15 2021-10-15 653363 ENSG00000277008 OTTHUMG00000022713 XM_927078 O15482 "15378397|16382448" PGOHUM00000304911 HGNC:33357 +HGNC:55924 TEX28P3 TEX28 pseudogene 3 pseudogene pseudogene Approved Xq28 Xq28 2021-10-15 2021-10-15 102030688 ENSG00000277009 NG_033788 PGOHUM00000304913 +HGNC:20370 TEX29 testis expressed 29 protein-coding gene gene with protein product Approved 13q34 13q34 "bA474D23.1|MGC35169" C13orf16 chromosome 13 open reading frame 16 2004-04-16 2012-02-07 2012-02-07 2014-11-19 121793 ENSG00000153495 OTTHUMG00000017358 uc001vsa.3 BC029889 NM_152324 CCDS9522 Q8N6K0 MGI:1922778 RGD:1565377 HGNC:20370 "ENST00000283547.2|NM_152324.3" +HGNC:25188 TEX30 testis expressed 30 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 C13orf27 chromosome 13 open reading frame 27 2006-08-04 2012-02-09 2012-02-09 2017-05-24 93081 ENSG00000151287 OTTHUMG00000017306 uc001vpo.5 AF070559 NM_138779 "CCDS9503|CCDS66578|CCDS66577" Q5JUR7 MGI:1922873 RGD:1309095 S09.027 HGNC:25188 "ENST00000376032.9|NM_138779.5" +HGNC:28568 TEX33 testis expressed 33 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "MGC35206|EAN57" C22orf33 chromosome 22 open reading frame 33 2006-10-23 2012-02-16 2012-02-16 2014-11-18 339669 ENSG00000185264 OTTHUMG00000150531 uc003aqe.4 BC042635 NM_178552 "CCDS13937|CCDS54524" O43247 22332119 MGI:1920626 RGD:1592508 HGNC:28568 "ENST00000381821.2|NM_001163857.2" +HGNC:25366 TEX35 testis expressed 35 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "DKFZP564J047|TSC24" Testis-Specific Conserved gene 24kDa C1orf49 chromosome 1 open reading frame 49 2005-01-31 2012-06-29 2012-06-29 2014-11-19 84066 ENSG00000240021 OTTHUMG00000035023 uc001glt.3 AL136694 NM_032126 "CCDS53434|CCDS53433|CCDS1323" Q5T0J7 "11230166|17077512" MGI:1920685 RGD:1595460 HGNC:25366 "ENST00000319416.7|NM_032126.5" +HGNC:31653 TEX36 testis expressed 36 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 bA383C5.1 C10orf122 chromosome 10 open reading frame 122 2004-05-27 2012-08-13 2012-08-13 2012-08-13 387718 ENSG00000175018 OTTHUMG00000019229 uc001lik.4 NM_001128202 "CCDS81521|CCDS44493" Q5VZQ5 MGI:1921058 RGD:1566410 HGNC:31653 "ENST00000368821.4|NM_001128202.3" +HGNC:49500 TEX36-AS1 TEX36 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q26.13 10q26.13 Antisense RNAs 1987 2013-12-20 2013-12-20 100169752 ENSG00000237675 OTTHUMG00000019227 NR_023362 TEX36-AS1 HGNC:49500 +HGNC:26341 TEX37 testis expressed 37 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ25369|TSC21" Testis-Specific Conserved gene 21kDa C2orf51 chromosome 2 open reading frame 51 2006-10-26 2012-09-14 2012-09-14 2014-11-19 200523 ENSG00000172073 OTTHUMG00000130332 uc002stb.3 AK058098 NM_152670 CCDS2003 Q96LM6 17091336 MGI:1921471 RGD:1562720 619676 HGNC:26341 "ENST00000303254.4|NM_152670.3" +HGNC:29589 TEX38 testis expressed 38 protein-coding gene gene with protein product Approved 1p33 01p33 "LOC374973|THEG4" testis highly expressed protein 4 "C1orf223|ATPAF1-AS1" "chromosome 1 open reading frame 223|ATPAF1 antisense RNA 1 (non-protein coding)|ATPAF1 antisense RNA 1" 2008-07-18 2012-10-12 2012-10-12 2012-10-12 374973 ENSG00000186118 OTTHUMG00000007991 uc001cqj.4 NM_001145474 "CCDS57999|CCDS72780|CCDS72781" Q6PEX7 12477932 MGI:1922423 RGD:1585134 HGNC:29589 "ENST00000334122.5|NM_001145474.4" +HGNC:48667 TEX41 testis expressed 41 non-coding RNA RNA, long non-coding Approved 2q22.3 02q22.3 "DKFZp686O1327|LINC00953" long intergenic non-protein coding RNA 953 testis expressed 41 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-06-04 2018-05-16 2018-05-16 401014 ENSG00000226674 OTTHUMG00000153701 BC043549 NR_033870 TEX41 HGNC:48667 +HGNC:33767 TEX43 testis expressed 43 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "MGC163367|MGC163369|FLJ27505|Tseg7" testis specific expressed gene 7 C5orf48 chromosome 5 open reading frame 48 2008-07-14 2014-02-21 2014-02-21 2014-02-21 389320 ENSG00000196900 OTTHUMG00000128944 NM_207408 CCDS4139 Q6ZNM6 MGI:1914593 RGD:1561039 HGNC:33767 "ENST00000357147.4|NM_207408.3" +HGNC:28563 TEX44 testis expressed 44 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 MGC35154 C2orf57 chromosome 2 open reading frame 57 2007-06-14 2016-11-03 2016-11-03 2016-11-03 165100 ENSG00000177673 OTTHUMG00000133226 uc002vrz.4 BC034405 NM_152614 CCDS2487 Q53QW1 26168773 MGI:1919113 RGD:1564629 HGNC:28563 "ENST00000313965.4|NM_152614.3" +HGNC:24745 TEX45 testis expressed 45 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ35784 C19orf45 chromosome 19 open reading frame 45 2006-06-21 2017-03-17 2017-03-17 2017-03-17 374877 ENSG00000198723 OTTHUMG00000157183 uc002mgm.2 BC029824 NM_198534 CCDS12179 Q8NA69 12477932 MGI:1923656 RGD:1563425 HGNC:24745 "ENST00000361664.7|NM_198534.3" +HGNC:44651 TEX46 testis expressed 46 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 C1orf234 chromosome 1 open reading frame 234 2013-06-14 2017-03-17 2017-03-17 2017-06-30 729059 ENSG00000227868 OTTHUMG00000003226 NM_001242521 CCDS57978 H3BTG2 MGI:1914913 RGD:7515741 HGNC:44651 "ENST00000566855.4|NM_001242521.2" +HGNC:22402 TEX47 testis expressed 47 protein-coding gene gene with protein product Approved 7q21.13 07q21.13 "MGC26647|DYBLUF" dynein-associated BLUF protein C7orf62 chromosome 7 open reading frame 62 2008-07-21 2017-03-17 2017-03-17 2022-03-14 219557 ENSG00000164645 OTTHUMG00000153859 uc003ujv.4 BC028365 NM_152706 CCDS34678 Q8TBZ9 "12690205|33637535" MGI:1918170 RGD:1564345 HGNC:22402 "ENST00000297203.3|NM_152706.4" +HGNC:52393 TEX48 testis expressed 48 protein-coding gene gene with protein product Approved 9q32 09q32 2017-03-21 2017-03-21 100505478 ENSG00000230601 OTTHUMG00000020542 NM_001199233 CCDS83406 A0A1B0GUV7 MGI:1922774 HGNC:52393 "ENST00000436752.3|NM_001199233.2" +HGNC:48628 TEX49 testis expressed 49 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 LINC00935 long intergenic non-protein coding RNA 935 2013-05-30 2017-04-05 2017-04-05 2021-01-28 255411 ENSG00000257987 OTTHUMG00000170394 "AK131005|BC054859" NM_001351123 CCDS86296 A0A1B0GTD5 MGI:1921113 RGD:1305928 HGNC:48628 "ENST00000548380.6|NM_001351123.2" +HGNC:52382 TEX50 testis expressed 50 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 2017-04-13 2017-04-13 730159 ENSG00000232113 OTTHUMG00000040547 NM_001195190 CCDS81405 A0A1B0GTY4 MGI:1922183 RGD:7711400 HGNC:52382 "ENST00000417563.3|NM_001195190.3" +HGNC:52387 TEX51 testis expressed 51 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 2017-04-21 2017-04-21 101929926 ENSG00000237524 OTTHUMG00000153376 NM_001322244 CCDS82507 A0A1B0GUA7 MGI:5594219 RGD:7590894 HGNC:52387 "ENST00000568484.6|NM_001322244.2" +HGNC:53643 TEX52 testis expressed 52 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 2017-08-10 2017-08-10 101929469 ENSG00000283297 OTTHUMG00000191716 NM_001365174 A6NCN8 MGI:1918399 RGD:2323784 HGNC:53643 "ENST00000637658.2|NM_001365174.2" +HGNC:53655 TEX53 testis expressed 53 protein-coding gene gene with protein product Approved 9q32 09q32 2017-08-17 2017-08-17 105376230 ENSG00000230054 OTTHUMG00000020544 NM_001354645 CCDS87679 A0A1B0GU33 MGI:3701774 HGNC:53655 "ENST00000423632.3|NM_001354645.2" +HGNC:53729 TEX54 testis expressed 54 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 2017-09-15 2017-09-15 111216277 ENSG00000283268 OTTHUMG00000191674 NM_001395459 A0A1B0GVG6 MGI:1921557 +HGNC:26553 TEX55 testis expressed 55 protein-coding gene gene with protein product Approved 3q13.32 03q13.32 "FLJ32859|TSCPA" Testis-specific conserved, cAMP-dependent type II PK anchoring protein C3orf30 chromosome 3 open reading frame 30 2005-12-22 2018-12-12 2018-12-12 2021-03-01 152405 ENSG00000163424 OTTHUMG00000159349 uc003ecb.1 AK057421 NM_152539 CCDS2984 Q96M34 "19821082|33458765" MGI:1921913 RGD:1306995 HGNC:26553 "ENST00000295622.6|NM_152539.3" +HGNC:30722 TEX101 testis expressed 101 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "MGC4766|SGRG|CT131|SPATA44|TES101RP" "cancer/testis antigen 131|spermatogenesis associated 44|TES101-reactive protein" testis expressed sequence 101 LY6/PLAUR domain containing 1226 2004-11-03 2007-03-13 2020-04-01 83639 ENSG00000131126 OTTHUMG00000182695 uc060zlc.1 AF241268 NM_031451 "CCDS12619|CCDS59393" Q9BY14 "16388701|16516155" MGI:1930791 RGD:621373 612665 HGNC:30722 "ENST00000598265.2|NM_001130011.3" +HGNC:55030 TEX101P1 TEX101 pseudogene 1 pseudogene pseudogene Approved Xq22.1 Xq22.1 2020-05-28 2020-05-28 117981793 ENSG00000270308 NG_070709 +HGNC:30712 TEX261 testis expressed 261 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 "MGC32043|TEG-261" testis expressed sequence 261 2004-08-02 2007-03-13 2015-08-21 113419 ENSG00000144043 OTTHUMG00000170601 uc002shn.4 AL832385 NM_144582 CCDS1914 Q6UWH6 9464256 MGI:1096575 RGD:1305851 618562 HGNC:30712 "ENST00000272438.9|NM_144582.3" +HGNC:30247 TEX264 testis expressed 264, ER-phagy receptor protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "ZSIG11|FLJ13935" testis expressed gene 264 2004-07-12 2019-05-10 2019-05-10 51368 ENSG00000164081 OTTHUMG00000156901 uc031saa.2 AF072733 NM_015926 "CCDS2833|CCDS74945" Q9Y6I9 "12975309|31006537|31006538" MGI:1096570 RGD:1359353 HGNC:30247 "ENST00000341333.10|NM_015926.6" +HGNC:11740 TF transferrin protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "PRO1557|PRO2086" serotransferrin Transferrins 908 2001-06-22 2018-06-28 7018 ENSG00000091513 OTTHUMG00000150356 uc003epv.2 NM_001063 CCDS3080 P02787 6585826 MGI:98821 RGD:3845 190000 120027 HGNC:11740 "ENST00000402696.9|NM_001063.4" HGNC:11740 +HGNC:11741 TFAM transcription factor A, mitochondrial protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "TCF6|TCF6L2" 1991-09-13 2016-10-05 7019 ENSG00000108064 OTTHUMG00000018270 uc001jkf.5 BC018628 NM_003201 "CCDS59217|CCDS7253" Q00059 7789991 MGI:107810 RGD:620682 600438 HGNC:11741 "ENST00000487519.6|NM_003201.3" HGNC:11741 +HGNC:11636 TFAMP1 transcription factor A, mitochondrial pseudogene 1 pseudogene pseudogene Approved 7p22.3 07p22.3 MTTF1 TCF6L1 transcription factor 6-like 1 (mitochondrial transcription factor 1-like) 1991-09-13 2008-01-31 2008-01-31 2010-09-24 260341 ENSG00000230444 OTTHUMG00000151494 NR_001288 PGOHUM00000233097 HGNC:11636 +HGNC:11638 TFAMP2 transcription factor A, mitochondrial pseudogene 2 pseudogene pseudogene Approved 11q22.3 11q22.3 MTTF1 TCF6L3 transcription factor 6-like 3 (mitochondrial transcription factor 1-like) 1991-09-13 2008-01-31 2008-01-31 2017-10-26 260340 ENSG00000254798 OTTHUMG00000166570 NR_001287 PGOHUM00000290697 HGNC:11638 +HGNC:11742 TFAP2A transcription factor AP-2 alpha protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "AP-2|AP-2alpha" "TFAP2|AP2TF" "transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)|transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)" Transcription factor AP-2 family 2048 1991-09-12 2016-04-06 2021-05-26 7020 ENSG00000137203 OTTHUMG00000014235 uc063ltd.1 X52611 NM_003220 "CCDS34337|CCDS43422" P05549 "1916817|3063603" MGI:104671 RGD:1310267 107580 159950 HGNC:11742 "ENST00000379613.10|NM_001372066.1" HGNC:11742 +HGNC:40579 TFAP2A-AS1 TFAP2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p24.3 06p24.3 Antisense RNAs 1987 2013-07-24 2014-11-18 100130275 ENSG00000229950 OTTHUMG00000014233 NR_033910 TFAP2A-AS1 HGNC:40579 +HGNC:52289 TFAP2A-AS2 TFAP2A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 6p24.3 06p24.3 HIPSTR heterogeneously expressed from the Intronic Plus Strand of the TFAP2A-locus RNA Antisense RNAs 1987 2017-02-15 2017-02-15 109729173 LF209760 NR_145448 27605307 617136 HGNC:52289 +HGNC:11743 TFAP2B transcription factor AP-2 beta protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "AP2-B|AP-2beta" "transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)|transcription factor AP-2 beta (activating enhancer binding protein 2 beta)" Transcription factor AP-2 family 2048 1995-12-18 2016-04-06 2021-05-26 7021 ENSG00000008196 OTTHUMG00000014836 uc003pag.4 X95694 NM_003221 CCDS4934 Q92481 "7555706|8661133" MGI:104672 RGD:1306321 601601 120029 HGNC:11743 "ENST00000393655.4|NM_003221.4" HGNC:11743 +HGNC:11744 TFAP2C transcription factor AP-2 gamma protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "AP2-GAMMA|ERF1|TFAP2G|hAP-2g" estrogen receptor factor 1 transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma) Transcription factor AP-2 family 2048 1997-01-08 2016-04-06 2016-10-05 7022 ENSG00000087510 OTTHUMG00000032805 uc002xya.4 NM_003222 CCDS13454 Q92754 8661133 MGI:106032 RGD:1303185 601602 HGNC:11744 "ENST00000201031.3|NM_003222.4" +HGNC:15581 TFAP2D transcription factor AP-2 delta protein-coding gene gene with protein product Approved 6p12.3 06p12.3 AP-2delta TFAP2BL1 "transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1|transcription factor AP-2 delta (activating enhancer binding protein 2 delta)" Transcription factor AP-2 family 2048 2001-04-27 2004-10-27 2016-04-06 2021-03-25 83741 ENSG00000008197 OTTHUMG00000014832 uc003paf.4 AY028376 NM_172238 CCDS4933 Q7Z6R9 11733187 MGI:2153466 RGD:1304864 610161 HGNC:15581 "ENST00000008391.4|NM_172238.4" +HGNC:30774 TFAP2E transcription factor AP-2 epsilon protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "AP2E|AP-2epsilon" transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) Transcription factor AP-2 family 2048 2004-11-05 2016-04-06 2021-03-25 339488 ENSG00000116819 OTTHUMG00000004388 uc010ohy.3 BC041175 NM_178548 CCDS393 Q6VUC0 14636996 MGI:2679630 RGD:1563297 614428 HGNC:30774 "ENST00000373235.4|NM_178548.4" +HGNC:41274 TFAP2E-AS1 TFAP2E antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 Antisense RNAs 1987 2020-03-27 2020-03-27 105378645 ENSG00000239636 OTTHUMG00000004372 XR_947182 +HGNC:11745 TFAP4 transcription factor AP-4 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "AP-4|bHLHc41" transcription factor AP-4 (activating enhancer-binding protein 4) Basic helix-loop-helix proteins 420 1995-03-01 2016-07-19 2016-10-05 7023 ENSG00000090447 OTTHUMG00000129435 uc010uxg.3 X57435 NM_003223 CCDS10510 Q01664 2123466 MGI:103239 RGD:1308357 600743 HGNC:11745 "ENST00000204517.11|NM_003223.3" +HGNC:17037 TFB1M transcription factor B1, mitochondrial protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "mtTFB|CGI-75" dimethyladenosine transferase 1, mitochondrial 7BS N6-adenosine DNA/RNA methyltransferases 2061 2002-04-26 2016-10-05 51106 ENSG00000029639 OTTHUMG00000015881 uc003qqj.5 AF151833 NM_001350501 CCDS5248 Q8WVM0 "10810093|11809803" MGI:2146851 RGD:727795 607033 120032 HGNC:17037 "ENST00000367166.5|NM_016020.4" +HGNC:18559 TFB2M transcription factor B2, mitochondrial protein-coding gene gene with protein product Approved 1q44 01q44 "FLJ23182|FLJ22661|Hkp1" 7BS N6-adenosine DNA/RNA methyltransferases 2061 2002-04-26 2014-11-19 64216 ENSG00000162851 OTTHUMG00000040091 uc001ibn.4 AK026835 NM_022366 CCDS1627 Q9H5Q4 MGI:107937 RGD:1307091 607055 HGNC:18559 "ENST00000366514.5|NM_022366.3" +HGNC:11748 TFCP2 transcription factor CP2 protein-coding gene gene with protein product Approved 12q13.12-q13.13 12q13.12-q13.13 "CP2|LSF|LBP-1C|TFCP2C" 1994-12-15 2018-02-13 7024 ENSG00000135457 OTTHUMG00000169621 uc001rxw.4 U03494 NM_005653 "CCDS8808|CCDS55827" Q12800 8157699 MGI:98509 RGD:1306738 189889 HGNC:11748 "ENST00000257915.10|NM_005653.5" +HGNC:17925 TFCP2L1 transcription factor CP2 like 1 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "LBP-9|CRTR1" transcription factor CP2-like 1 2004-01-05 2016-08-25 2016-10-05 29842 ENSG00000115112 OTTHUMG00000131443 uc002tmx.4 AF198488 NM_014553 CCDS2134 Q9NZI6 "10644752|11073954" MGI:2444691 RGD:1305456 609785 HGNC:17925 "ENST00000263707.6|NM_014553.3" +HGNC:11749 TFDP1 transcription factor Dp-1 protein-coding gene gene with protein product Approved 13q34 13q34 "Dp-1|DRTF1|DP1|DILC" down-regulated in liver cancer stem cells Transcription factor Dp family 987 1995-02-02 2016-01-29 7027 ENSG00000198176 OTTHUMG00000017388 uc001vtw.4 BC011685 NM_007111 CCDS9538 Q14186 "8413592|9027491" MGI:101934 RGD:1560344 189902 HGNC:11749 "ENST00000375370.10|NM_007111.5" +HGNC:11750 TFDP1P1 TFDP1 pseudogene 1 pseudogene pseudogene Approved 1q32.3 01q32.3 TFDP1P "transcription factor Dp-1 pseudogene|transcription factor Dp-1 pseudogene 1" 1996-05-15 2020-04-29 2020-04-29 2020-04-29 391158 ENSG00000224540 U58192 NG_009284 9027491 HGNC:11750 +HGNC:54930 TFDP1P2 TFDP1 pseudogene 2 pseudogene pseudogene Approved Xp21.1 Xp21.1 2020-04-29 2020-04-29 441488 ENSG00000223723 NG_006953 +HGNC:54931 TFDP1P3 TFDP1 pseudogene 3 pseudogene pseudogene Approved 15q25.1 15q25.1 2020-04-29 2020-04-29 390617 ENSG00000259493 NG_009287 +HGNC:11751 TFDP2 transcription factor Dp-2 protein-coding gene gene with protein product Approved 3q23 03q23 Dp-2 E2F dimerization partner 2 transcription factor Dp-2 (E2F dimerization partner 2) Transcription factor Dp family 987 1995-12-15 2016-04-04 2016-04-04 7029 ENSG00000114126 OTTHUMG00000164975 uc003eum.5 U18422 NM_006286 "CCDS54650|CCDS43159|CCDS54647|CCDS54648|CCDS54649" Q14188 "7784053|9027491" MGI:107167 RGD:1305814 602160 HGNC:11751 "ENST00000489671.6|NM_001178139.2" +HGNC:24603 TFDP3 transcription factor Dp family member 3 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 "HCA661|E2F-like|CT30" "E2F-like protein|cancer/testis antigen 30" transcription factor Dp family, member 3 Transcription factor Dp family 987 2004-07-15 2015-11-18 2020-04-02 51270 ENSG00000183434 OTTHUMG00000022433 uc004exb.1 AF219119 NM_016521 CCDS14636 Q5H9I0 12097419 MGI:101934 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TFDP3 300772 HGNC:24603 "ENST00000310125.5|NM_016521.3" +HGNC:11752 TFE3 transcription factor binding to IGHM enhancer 3 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "TFEA|bHLHe33" Basic helix-loop-helix proteins 420 1990-10-16 2020-04-02 7030 ENSG00000068323 OTTHUMG00000022690 uc004dmb.5 X96717 NM_006521 CCDS14315 P19532 "1672758|1685140" MGI:98511 RGD:1559642 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TFE3 TFE3 314310 120036 HGNC:11752 "ENST00000315869.8|NM_006521.6" HGNC:11752 +HGNC:11753 TFEB transcription factor EB protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TCFEB|bHLHe35" Basic helix-loop-helix proteins 420 1999-09-20 2016-10-05 7942 ENSG00000112561 OTTHUMG00000014684 uc003oqt.3 M33782 NM_001167827 "CCDS64425|CCDS4858|CCDS64424" P19484 2115126 MGI:103270 RGD:1309583 TFEB 600744 326706 HGNC:11753 "ENST00000373033.6|NM_001271944.2" +HGNC:11754 TFEC transcription factor EC protein-coding gene gene with protein product Approved 7q31.2 07q31.2 "TCFEC|TFECL|bHLHe34" Basic helix-loop-helix proteins 420 1999-09-20 2014-11-19 22797 ENSG00000105967 OTTHUMG00000023518 uc003vhj.3 D43945 NM_012252 "CCDS5762|CCDS34738|CCDS59076" O14948 9256061 MGI:1333760 RGD:3846 604732 HGNC:11754 "ENST00000265440.12|NM_012252.4" +HGNC:11755 TFF1 trefoil factor 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "D21S21|HPS2|pS2|pNR-2|HP1.A" BCEI breast cancer, estrogen-inducible sequence expressed in 2001-06-22 2007-01-29 2014-11-19 7031 ENSG00000160182 OTTHUMG00000086799 uc002zax.2 BC032811 NM_003225 CCDS13685 P04155 9043862 MGI:88135 RGD:620707 113710 HGNC:11755 "ENST00000291527.3|NM_003225.3" +HGNC:11756 TFF2 trefoil factor 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 SML1 spasmolytic protein 1 1991-12-13 2008-07-28 2015-08-26 7032 ENSG00000160181 OTTHUMG00000086797 uc002zaw.4 NM_005423 CCDS13684 Q03403 "1505966|9043862" MGI:1306805 RGD:620709 182590 HGNC:11756 "ENST00000291526.5|NM_005423.5" +HGNC:11757 TFF3 trefoil factor 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "HITF|ITF" trefoil factor 3 (intestinal) 1995-11-22 2015-11-10 2016-04-25 7033 ENSG00000160180 OTTHUMG00000086798 uc002zav.4 AF432265 NM_003226 CCDS33565 Q07654 "7718582|9043862" MGI:104638 RGD:3847 600633 HGNC:11757 "ENST00000518498.3|NM_003226.4" +HGNC:11758 TFG trafficking from ER to golgi regulator protein-coding gene gene with protein product Approved 3q12.2 03q12.2 "TF6|FLJ36137|SPG57" TRK-fused gene 1999-06-14 2019-04-03 2021-05-26 10342 ENSG00000114354 OTTHUMG00000159085 uc003duf.4 BC009241 NM_006070 "CCDS2939|CCDS56266" Q92734 "9169129|23479643" MGI:1338041 RGD:1309751 TFG 602498 120039 HGNC:11758 "ENST00000240851.9|NM_006070.6" HGNC:11758 +HGNC:55068 TFGP1 TFG pseudogene 1 pseudogene pseudogene Approved 6p21.2 06p21.2 2020-06-09 2020-06-09 100128379 ENSG00000217227 NG_016545 PGOHUM00000301782 +HGNC:17165 TFIP11 tuftelin interacting protein 11 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "TIP39|DKFZP434B194|Spp382" "G-patch domain containing|Spliceosomal B complex" "579|1507" 2002-06-07 2014-11-19 24144 ENSG00000100109 OTTHUMG00000150883 uc003act.4 AL050258 NM_001008697 CCDS13838 Q9UBB9 "10806191|11230166" MGI:1930075 RGD:1311449 612747 HGNC:17165 "ENST00000407690.6|NM_012143.4" +HGNC:55374 TFIP11-DT TFIP11 divergent transcript non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 Divergent transcripts 1990 2020-11-11 2020-11-11 100507599 ENSG00000261188 NR_144529 +HGNC:11760 TFPI tissue factor pathway inhibitor protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "EPI|TFI|TFPI1" extrinsic pathway inhibitor LACI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 1991-06-03 2015-11-19 2021-04-13 7035 ENSG00000003436 OTTHUMG00000132634 uc002upy.4 NM_006287 "CCDS33349|CCDS2294" P10646 1993173 MGI:1095418 RGD:61914 LRG_604|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_604.xml 152310 471212 LI02-002 ligandId:11181 HGNC:11760 "ENST00000233156.9|NM_006287.6" +HGNC:11761 TFPI2 tissue factor pathway inhibitor 2 protein-coding gene gene with protein product Approved 7q21.3 07q21.3 "PP5|TFPI-2|REF1" 1999-07-14 2021-04-13 7980 ENSG00000105825 OTTHUMG00000022963 uc003umy.2 L27624 NM_006528 CCDS5632 P48307 "7896752|8945635" MGI:108543 RGD:628629 LRG_647|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_647.xml 600033 LI02-003 HGNC:11761 "ENST00000222543.11|NM_006528.4" +HGNC:40581 TFPI2-DT TFPI2 divergent transcript non-coding RNA RNA, long non-coding Approved 7q21.3 07q21.3 Divergent transcripts 1990 2020-03-27 2020-03-27 105375401 ENSG00000234695 OTTHUMG00000155770 NR_134235 +HGNC:13630 TFPT TCF3 fusion partner protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FB1|amida|INO80F" "amida, partner of the E2A|INO80 complex subunit F" TCF3 (E2A) fusion partner (in childhood Leukemia) INO80 complex 595 2000-09-27 2016-06-30 2016-10-05 29844 ENSG00000105619 OTTHUMG00000065906 uc010yej.1 AF052052 NM_013342 "CCDS12878|CCDS82396" P0C1Z6 "10644725|16230350" MGI:1916964 RGD:620839 609519 HGNC:13630 "ENST00000391759.6|NM_013342.4" +HGNC:11762 TFR2 transferrin receptor 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "HFE3|TFRC2" M28 metallopeptidases 1444 1998-06-03 2021-05-26 7036 ENSG00000106327 OTTHUMG00000159598 uc064ggh.1 AF053356 NM_003227 CCDS34707 Q9UP52 "9799793|12130528|25767952" MGI:1354956 RGD:1310152 604720 120043 M28.973 HGNC:11762 "ENST00000223051.8|NM_003227.4" HGNC:11762 +HGNC:11763 TFRC transferrin receptor protein-coding gene gene with protein product Approved 3q29 03q29 "CD71|TFR1|p90" transferrin receptor (p90, CD71) "CD molecules|M28 metallopeptidases" "471|1444" 2001-06-22 2013-09-19 2014-11-19 7037 ENSG00000072274 OTTHUMG00000155714 uc003fwa.5 X01060 NM_001128148 "CCDS82891|CCDS3312" P02786 MGI:98822 RGD:70488 190010 471214 M28.972 objectId:3196 CD71 HGNC:11763 "ENST00000360110.9|NM_001128148.3" HGNC:11763 +HGNC:11764 TG thyroglobulin protein-coding gene gene with protein product Approved 8q24.22 08q24.22 "TGN|AITD3" 2001-06-22 2016-10-05 7038 ENSG00000042832 OTTHUMG00000164649 uc003ytw.4 AU141420 NM_003235 CCDS34944 P01266 MGI:98733 RGD:3848 188450 168347 HGNC:11764 "ENST00000220616.9|NM_003235.5" HGNC:11764 +HGNC:20324 TGDS TDP-glucose 4,6-dehydratase protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "TDPGD|SDR2E1" short chain dehydrogenase/reductase family 2E, member 1 Short chain dehydrogenase/reductase superfamily 743 2003-04-10 2016-07-06 2021-05-26 23483 ENSG00000088451 OTTHUMG00000046308 uc001vlw.4 AF048686 NM_014305 CCDS9471 O95455 19027726 MGI:1923605 RGD:1306544 616146 419174 4.2.1.46 HGNC:20324 "ENST00000261296.7|NM_014305.4" HGNC:20324 +HGNC:11765 TGFA transforming growth factor alpha protein-coding gene gene with protein product Approved 2p13.3 02p13.3 transforming growth factor, alpha 2001-06-22 2015-11-05 2016-10-05 7039 ENSG00000163235 OTTHUMG00000129669 uc002sgs.4 NM_001099691 "CCDS77420|CCDS77419|CCDS1905|CCDS46316" P01135 "3459638|10552925" MGI:98724 RGD:3849 190170 159040 ligandId:5059 HGNC:11765 "ENST00000295400.11|NM_003236.4" HGNC:11765 +HGNC:41389 TGFA-IT1 TGFA intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2p13.3 02p13.3 TGFA intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874273 ENSG00000224606 OTTHUMG00000153490 uc061kjm.1 NR_046798 TGFA-IT1 HGNC:41389 +HGNC:11766 TGFB1 transforming growth factor beta 1 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "CED|TGFbeta" "Camurati-Engelmann disease|prepro-transforming growth factor beta-1|Diaphyseal dysplasia 1, progressive" "TGFB|DPD1" transforming growth factor, beta 1 Transforming growth factor beta family 1664 2001-06-22 2015-11-05 2021-05-26 7040 ENSG00000105329 OTTHUMG00000182760 uc002oqh.4 X02812 NM_000660 CCDS33031 P01137 "10631145|10843814" MGI:98725 RGD:69051 190180 120047 ligandId:5060 HGNC:11766 "ENST00000221930.6|NM_000660.7" HGNC:11766 +HGNC:11767 TGFB1I1 transforming growth factor beta 1 induced transcript 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "Hic-5|TSC-5|ARA55|HIC-5" hydrogen peroxide-inducible clone-5 LIM domain containing 1218 1998-03-23 2016-10-05 7041 ENSG00000140682 OTTHUMG00000132467 uc021tgx.1 AB007836 NM_001042454 "CCDS10713|CCDS42156" O43294 "9422762|10075738" MGI:102784 RGD:620173 602353 HGNC:11767 "ENST00000394863.8|NM_001042454.3" +HGNC:11768 TGFB2 transforming growth factor beta 2 protein-coding gene gene with protein product Approved 1q41 01q41 prepro-transforming growth factor beta-2 transforming growth factor, beta 2 Transforming growth factor beta family 1664 1989-05-10 2015-11-05 2021-05-26 7042 ENSG00000092969 OTTHUMG00000039521 uc001hlm.4 M19154 NM_003238 "CCDS44318|CCDS1521" P61812 MGI:98726 RGD:70491 190220 120052 ligandId:5061 HGNC:11768 "ENST00000366930.9|NM_003238.6" HGNC:11768 +HGNC:50628 TGFB2-AS1 TGFB2 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 1q41 01q41 NR_046268 Antisense RNAs 1987 2014-05-30 2017-02-16 728463 ENSG00000232480 OTTHUMG00000039520 BX099841 NR_046268 27816668 TGFB2-AS1 HGNC:50628 +HGNC:50629 TGFB2-OT1 TGFB2 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 FLJ11812 Overlapping transcripts 1988 2014-05-30 2015-08-26 103611157 ENSG00000281453 OTTHUMG00000189749 AK021874 NR_125715 "24879147|25437332" TGFB2-OT1 HGNC:50629 +HGNC:11769 TGFB3 transforming growth factor beta 3 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 prepro-transforming growth factor beta-3 "ARVD1|ARVD" "arrhythmogenic right ventricular dysplasia 1|transforming growth factor, beta 3" Transforming growth factor beta family 1664 1989-05-10 2015-11-05 2021-05-26 7043 ENSG00000119699 OTTHUMG00000171489 uc001xsc.3 NM_003239 "CCDS86415|CCDS9846" P10600 "16549496|15639475" MGI:98727 RGD:3851 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TGFB3|LRG_399|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_399.xml" 190230 120054 ligandId:5062 HGNC:11769 "ENST00000238682.8|NM_003239.5" HGNC:11769 +HGNC:53144 TGFB3-AS1 TGFB3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 ENST00000553732 Antisense RNAs 1987 2017-02-16 2017-02-16 109729179 ENSG00000258876 OTTHUMG00000171614 27816668 +HGNC:11771 TGFBI transforming growth factor beta induced protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "BIGH3|CDB1|CDGG1" "CSD3|LCD1|CSD1|CSD2" "transforming growth factor, beta-induced, 68kD|transforming growth factor, beta-induced, 68kDa" 1995-07-18 2015-11-16 2021-05-26 7045 ENSG00000120708 OTTHUMG00000163213 uc003lbf.5 M77349 NM_000358 CCDS47266 Q15582 9463327 MGI:99959 RGD:620017 601692 120056 HGNC:11771 "ENST00000442011.7|NM_000358.3" HGNC:11771 +HGNC:11772 TGFBR1 transforming growth factor beta receptor 1 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "ALK-5|ACVRLK4|ALK5|TBRI|TBR-i" activin A receptor type II-like kinase, 53kDa "MSSE|ESS1" "multiple self-healing squamous epithelioma|transforming growth factor beta receptor I" Type 1 receptor serine/threonine kinases 345 1993-09-30 2016-04-27 2021-05-26 7046 ENSG00000106799 OTTHUMG00000020353 uc004azc.4 NM_001130916 "CCDS47998|CCDS78413|CCDS6738" P36897 "1319842|8530052|21358634" MGI:98728 RGD:3852 LOVD - Center for Medical Genetics, Ghent, Belgium|http://medgen.ugent.be/LOVD2/home.php?select_db=TGFBR1 190181 120065 objectId:1788 HGNC:11772 "ENST00000374994.9|NM_004612.4" HGNC:11772 +HGNC:11773 TGFBR2 transforming growth factor beta receptor 2 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 "TBRII|TBR-ii" MFS2 "transforming growth factor, beta receptor II (70/80kDa)|transforming growth factor beta receptor II" Type 2 receptor serine/threonine kinases 346 1993-09-30 2016-04-27 2021-05-26 7048 ENSG00000163513 OTTHUMG00000130569 uc003ceo.4 NM_001024847 "CCDS33727|CCDS2648" P37173 "1319842|15235604" MGI:98729 RGD:69651 "LOVD - Center for Medical Genetics, Ghent, Belgium|http://medgen.ugent.be/LOVD2/home.php?select_db=TGFBR2|The TGFBR2 mutations database|http://www.umd.be/TGFBR2/|LRG_779|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_779.xml" TGFBR2 190182 120069 objectId:1795 HGNC:11773 "ENST00000295754.10|NM_003242.6" HGNC:11773 +HGNC:11774 TGFBR3 transforming growth factor beta receptor 3 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "betaglycan|BGCAN" betaglycan proteoglycan "transforming growth factor, beta receptor III|transforming growth factor beta receptor III" Proteoglycans 570 1993-09-30 2016-04-27 2016-10-05 7049 ENSG00000069702 OTTHUMG00000010097 uc001doh.4 L07594 NM_003243 "CCDS30770|CCDS55614" Q03167 "1333192|1319842" MGI:104637 RGD:61821 600742 375701 objectId:1796 HGNC:11774 "ENST00000212355.9|NM_003243.5" +HGNC:44152 TGFBR3L transforming growth factor beta receptor 3 like protein-coding gene gene with protein product Approved 19p13.2 19p13.2 GEMP gonadotroph enriched membrane protein transforming growth factor, beta receptor III-like 2012-07-02 2016-04-27 2021-02-24 100507588 ENSG00000260001 OTTHUMG00000175717 uc021uoa.2 NM_001195259 CCDS58648 H3BV60 "26468016|33396509" MGI:3833469 RGD:1586419 HGNC:44152 "ENST00000565886.2|NM_001195259.2" +HGNC:16836 TGFBRAP1 transforming growth factor beta receptor associated protein 1 protein-coding gene gene with protein product Approved 2q12.1-q12.2 02q12.1-q12.2 "TRAP-1|TRAP1|VPS3" VPS3 CORVET complex subunit transforming growth factor, beta receptor associated protein 1 CORVET complex 1532 2003-02-11 2015-11-05 2018-02-13 9392 ENSG00000135966 OTTHUMG00000130809 uc002tcq.5 AF022795 NM_004257 CCDS2067 Q8WUH2 "9545258|11278302|26463206" MGI:2447427 RGD:1310772 606237 HGNC:16836 "ENST00000393359.7|NM_004257.6" +HGNC:11776 TGIF1 TGFB induced factor homeobox 1 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 "HPE4|TGIF" "TGFB-induced factor (TALE family homeobox)|TGFB-induced factor homeobox 1" TALE class homeoboxes and pseudogenes 526 1998-01-09 2007-01-30 2016-02-02 2021-05-26 7050 ENSG00000177426 OTTHUMG00000131511 uc060mxy.1 X89750 NM_170695 "CCDS11835|CCDS11833|CCDS11832" Q15583 "8537382|10835638" MGI:1194497 RGD:1310517 602630 8625 120072 HGNC:11776 "ENST00000343820.10|NM_003244.4" HGNC:11776 +HGNC:30730 TGIF1P1 TGFB induced factor homeobox 1 pseudogene 1 pseudogene pseudogene Approved 19q13.32 19q13.32 TGFB-induced factor homeobox 1 pseudogene 1 TALE class homeoboxes and pseudogenes 526 2007-02-07 2016-02-02 2016-07-25 126052 ENSG00000259339 OTTHUMG00000158208 NG_002440 8595 PGOHUM00000295050 HGNC:30730 +HGNC:15764 TGIF2 TGFB induced factor homeobox 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 "TGFB-induced factor 2 (TALE family homeobox)|TGFB-induced factor homeobox 2" TALE class homeoboxes and pseudogenes 526 2001-05-31 2016-02-02 2016-02-02 60436 ENSG00000118707 OTTHUMG00000172332 uc021wcv.2 AB042646 NM_021809 CCDS13278 Q9GZN2 11006116 MGI:1915299 RGD:1560115 607294 8517 HGNC:15764 "ENST00000373872.9|NM_021809.7" +HGNC:44664 TGIF2-RAB5IF TGIF2-RAB5IF readthrough other readthrough Approved 20q11.23 20q11.23 TGIF2-C20orf24 TGIF2-C20orf24 readthrough 2012-12-12 2018-03-16 2018-03-16 2018-03-16 100527943 ENSG00000259399 OTTHUMG00000032382 uc002xfo.4 NM_001199535 MGI:1915299 HGNC:44664 +HGNC:18570 TGIF2LX TGFB induced factor homeobox 2 like X-linked protein-coding gene gene with protein product Approved Xq21.31 Xq21.31 "TGFB-induced factor 2-like, X-linked|TGFB-induced factor homeobox 2-like, X-linked" TALE class homeoboxes and pseudogenes 526 2002-05-22 2018-04-26 2018-04-26 90316 ENSG00000153779 OTTHUMG00000021954 uc004efe.4 AF497480 NM_138960 CCDS14459 Q8IUE1 "MGI:2387796|MGI:3800824" RGD:1561826 300411 8518 471216 HGNC:18570 "ENST00000283891.6|NM_138960.4" +HGNC:18569 TGIF2LY TGFB induced factor homeobox 2 like Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 "TGFB-induced factor 2-like, Y-linked|TGFB-induced factor homeobox 2-like, Y-linked" TALE class homeoboxes and pseudogenes 526 2002-05-22 2018-04-26 2018-04-26 90655 ENSG00000176679 OTTHUMG00000036153 uc004fqk.4 AF332223 NM_139214 CCDS14775 Q8IUE0 MGI:2387796 400025 8519 471218 HGNC:18569 "ENST00000321217.5|NM_139214.3" +HGNC:33317 TGIF2P1 TGFB induced factor homeobox 2 pseudogene 1 pseudogene pseudogene Approved 1q44 01q44 TGFB-induced factor homeobox 2 pseudogene 1 TALE class homeoboxes and pseudogenes 526 2007-02-07 2016-02-02 2016-02-02 126826 ENSG00000225401 OTTHUMG00000040101 NG_009692 8568 PGOHUM00000296142 HGNC:33317 +HGNC:11777 TGM1 transglutaminase 1 protein-coding gene gene with protein product Approved 14q12 14q12 "TGASE|TGK|LI|LI1" K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase ICR2 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) Transglutaminases 773 1990-05-25 2013-05-02 2021-05-26 7051 ENSG00000092295 OTTHUMG00000029329 uc001wod.3 D90287 NM_000359 CCDS9622 P22735 11390390 MGI:98730 RGD:61838 190195 120076 2.3.2.13 HGNC:11777 "ENST00000206765.11|NM_000359.3" HGNC:11777 +HGNC:11778 TGM2 transglutaminase 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 TGC C polypeptide, protein-glutamine-gamma-glutamyltransferase transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) Transglutaminases 773 1991-08-02 2013-05-02 2016-10-05 7052 ENSG00000198959 OTTHUMG00000032437 uc002xhr.5 M98478 NM_198951 CCDS13302 P21980 "7912692|11390390" MGI:98731 RGD:621081 190196 objectId:3015 2.3.2.13 HGNC:11778 "ENST00000361475.7|NM_004613.4" HGNC:11778 +HGNC:11779 TGM3 transglutaminase 3 protein-coding gene gene with protein product Approved 20p13 20p13 TGE E polypeptide, protein-glutamine-gamma-glutamyltransferase transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) Transglutaminases 773 1991-08-02 2013-05-02 2016-10-05 7053 ENSG00000125780 OTTHUMG00000031690 uc002wfx.5 L10386 NM_003245 CCDS33435 Q08188 "7851911|9452468" MGI:98732 RGD:1561831 600238 477553 2.3.2.13 HGNC:11779 "ENST00000381458.6|NM_003245.4" HGNC:11779 +HGNC:11780 TGM4 transglutaminase 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 TGP transglutaminase 4 (prostate) Transglutaminases 773 1995-02-07 2013-05-02 2016-10-05 7047 ENSG00000163810 OTTHUMG00000133096 uc003coc.5 BC007003 NM_003241 CCDS2723 P49221 "7665178|7916568" MGI:3027002 RGD:620785 600585 2.3.2.13 HGNC:11780 "ENST00000296125.9|NM_003241.4" +HGNC:11781 TGM5 transglutaminase 5 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 "TGX|TGMX" protein-glutamine gamma-glutamyltransferase 5 Transglutaminases 773 1999-03-19 2021-05-26 9333 ENSG00000104055 OTTHUMG00000176488 uc001zrd.2 AF035960 NM_004245 "CCDS32212|CCDS32211" O43548 "9452468|11390390" MGI:1921426 RGD:1593350 603805 120083 2.3.2.13 HGNC:11781 "ENST00000220420.10|NM_201631.4" HGNC:11781 +HGNC:16255 TGM6 transglutaminase 6 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ734P14.3|TGY|SCA35" "spinocerebellar ataxia 35|protein-glutamine gamma-glutamyltransferase 6" TGM3L transglutaminase 3-like Transglutaminases 773 2001-07-17 2004-07-07 2004-07-05 2021-05-26 343641 ENSG00000166948 OTTHUMG00000031692 uc002wfy.1 AF540970 NM_198994 "CCDS58761|CCDS13025" O95932 "11390390|21106500" MGI:3044321 RGD:1565348 613900 279644 2.3.2.13 HGNC:16255 "ENST00000202625.7|NM_198994.3" HGNC:16255 +HGNC:30790 TGM7 transglutaminase 7 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 TGMZ transglutaminase Z Transglutaminases 773 2004-07-01 2019-08-20 116179 ENSG00000159495 OTTHUMG00000176547 uc001zrf.2 AF363393 NM_052955 CCDS32213 Q96PF1 11390390 MGI:2151164 RGD:7615199 606776 HGNC:30790 "ENST00000452443.3|NM_052955.3" +HGNC:15450 TGOLN2 trans-golgi network protein 2 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "TGN51|TGN46|TGN48|TGN38|TTGN2" trans-Golgi network protein (46, 48, 51kD isoforms) 2001-08-07 2014-11-19 10618 ENSG00000152291 OTTHUMG00000153017 uc002soz.4 AF027515 NM_006464 "CCDS56126|CCDS56127|CCDS46351" O43493 "9422759|21994457" MGI:105079 RGD:620445 603062 HGNC:15450 "ENST00000377386.8|NM_006464.4" +HGNC:17843 TGS1 trimethylguanosine synthase 1 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 PIMT NCOA6IP "nuclear receptor coactivator 6 interacting protein|trimethylguanosine synthase homolog (S. cerevisiae)" 7BS DNA/RNA methyltransferases 2059 2001-12-19 2006-11-27 2010-06-25 2016-10-05 96764 ENSG00000137574 OTTHUMG00000164294 uc003xsj.5 AY028423 NM_024831 CCDS34894 Q96RS0 "11517327|11983179|19307714" MGI:2151797 RGD:1309953 606461 2.1.1.- HGNC:17843 "ENST00000260129.6|NM_024831.8" +HGNC:11782 TH tyrosine hydroxylase protein-coding gene gene with protein product Approved 11p15.5 11p15.5 DYT5b tyrosine 3-monooxygenase 1986-01-01 2015-08-26 7054 ENSG00000180176 OTTHUMG00000009559 uc001lvr.4 X05290 NM_000360 "CCDS7730|CCDS31338|CCDS7731" P07101 MGI:98735 RGD:3853 BIOMBD|http://www.biopku.org/home/biomdb.asp 191290 120086 objectId:1243 1.14.16.2 HGNC:11782 "ENST00000352909.8|NM_000360.4" HGNC:11782 +HGNC:40495 TH2LCRR T helper type 2 locus control region associated RNA non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 TH2-LCR Long non-coding RNAs with non-systematic symbols 1992 2015-05-01 2015-08-07 101927761 ENSG00000223442 OTTHUMG00000059612 NR_132124 25903499 TH2LCRR HGNC:40495 +HGNC:18004 THA1P threonine aldolase 1, pseudogene pseudogene pseudogene Approved 17q25.3 17q25.3 GLY1 2005-06-16 2009-12-08 2020-08-14 390816 ENSG00000267676 OTTHUMG00000132125 XM_372682 15757516 MGI:1919026 HGNC:18004 +HGNC:19217 THADA THADA armadillo repeat containing protein-coding gene gene with protein product Approved 2p21 02p21 "FLJ21877|KIAA1767|GITA|ARMC13|Trm732" Trm732 homolog (S. cerevisiae) "thyroid adenoma associated|THADA, armadillo repeat containing" Armadillo repeat containing 409 2004-01-05 2019-01-25 2022-03-17 63892 ENSG00000115970 OTTHUMG00000152398 uc002rsx.4 AY149629 NM_022065 "CCDS46268|CCDS62901|CCDS62902" Q6YHU6 "12063398|25404562" MGI:3039623 RGD:1560519 611800 HGNC:19217 "ENST00000405975.7|NM_022065.5" +HGNC:20856 THAP1 THAP domain containing 1 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 "FLJ10477|4833431A01Rik" DYT6 "dystonia 6, torsion (autosomal dominant)|THAP domain containing, apoptosis associated protein 1" THAP domain containing 65 2003-07-21 2016-05-23 2021-05-26 55145 ENSG00000131931 OTTHUMG00000165276 uc003xpk.4 BC021721 NM_018105 "CCDS6136|CCDS6137" Q9NVV9 "12575992|12717420|19182804" MGI:1921004 RGD:1307589 609520 178822 HGNC:20856 "ENST00000254250.7|NM_018105.3" HGNC:20856 +HGNC:20854 THAP2 THAP domain containing 2 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 DKFZP564I0422 THAP domain containing, apoptosis associated protein 2 THAP domain containing 65 2003-07-21 2016-05-23 2016-11-10 83591 ENSG00000173451 OTTHUMG00000169556 uc001swq.4 BC008358 NM_031435 CCDS9001 Q9H0W7 12575992 MGI:1914066 RGD:1593643 612531 HGNC:20854 "ENST00000308086.3|NM_031435.4" +HGNC:20855 THAP3 THAP domain containing 3 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 THAP domain containing, apoptosis associated protein 3 THAP domain containing 65 2003-07-21 2016-05-16 2021-05-26 90326 ENSG00000041988 OTTHUMG00000001440 uc001aoe.3 BC022081 NM_138350 "CCDS55573|CCDS86|CCDS55572" Q8WTV1 12575992 MGI:1917126 RGD:1308109 612532 HGNC:20855 "ENST00000054650.9|NM_001195753.2" +HGNC:23187 THAP4 THAP domain containing 4 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "CGI-36|Nb(III)" nitrobindin THAP domain containing 65 2003-10-08 2019-05-22 51078 ENSG00000176946 OTTHUMG00000133410 uc002wbt.4 AF258556 NM_015963 "CCDS54440|CCDS2551" Q8WY91 "12575992|10810093|30524950" MGI:1914276 RGD:1359473 612533 HGNC:23187 "ENST00000407315.6|NM_015963.6" +HGNC:23188 THAP5 THAP domain containing 5 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 DKFZp313O1132 THAP domain containing 65 2003-10-08 2016-10-05 168451 ENSG00000177683 OTTHUMG00000154951 uc064hbq.1 AL833137 NM_182529 "CCDS47687|CCDS34734" Q7Z6K1 12575992 612534 HGNC:23188 "ENST00000415914.4|NM_001130475.3" +HGNC:22340 THAP5P1 THAP domain containing 5 pseudogene 1 pseudogene pseudogene Approved 7q36.3 07q36.3 2012-11-13 2012-11-13 285872 ENSG00000224324 OTTHUMG00000153022 NG_005177 PGOHUM00000233094 HGNC:22340 +HGNC:44502 THAP5P2 THAP domain containing 5 pseudogene 2 pseudogene pseudogene Approved 3p25.1 03p25.1 2012-11-13 2012-11-13 100129618 NG_028903 PGOHUM00000257057 HGNC:44502 +HGNC:23189 THAP6 THAP domain containing 6 protein-coding gene gene with protein product Approved 4q21.1 04q21.1 MGC30052 THAP domain containing 65 2003-10-08 2016-10-05 152815 ENSG00000174796 OTTHUMG00000130108 uc003him.4 BC022989 NM_144721 "CCDS3568|CCDS82932" Q8TBB0 12575992 RGD:1310094 612535 HGNC:23189 "ENST00000311638.7|NM_144721.6" +HGNC:23190 THAP7 THAP domain containing 7 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 MGC10963 THAP domain containing 65 2003-10-08 2016-10-05 80764 ENSG00000184436 OTTHUMG00000150879 uc002ztr.2 BC004346 NM_030573 CCDS13787 Q9BT49 12575992 MGI:1916259 RGD:1308061 609518 HGNC:23190 "ENST00000215742.9|NM_030573.3" +HGNC:41013 THAP7-AS1 THAP7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 THAP7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-10-20 2012-08-15 2014-11-19 439931 ENSG00000230513 OTTHUMG00000150877 uc002ztv.4 NR_027051 THAP7-AS1 HGNC:41013 +HGNC:23191 THAP8 THAP domain containing 8 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ32891 THAP domain containing 65 2003-10-08 2016-10-05 199745 ENSG00000161277 OTTHUMG00000048138 uc002oda.1 AK057453 NM_152658 CCDS33000 Q8NA92 12575992 RGD:9345801 612536 HGNC:23191 "ENST00000292894.2|NM_152658.3" +HGNC:23192 THAP9 THAP domain containing 9 protein-coding gene gene with protein product Approved 4q21.22 04q21.22 FLJ34093 THAP domain containing 65 2003-10-08 2016-10-05 79725 ENSG00000168152 OTTHUMG00000130291 uc003hnt.3 AK091412 NM_024672 CCDS3598 Q9H5L6 12575992 612537 HGNC:23192 "ENST00000302236.10|NM_024672.6" +HGNC:44172 THAP9-AS1 THAP9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.22 04q21.22 THAP9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2022-04-06 100499177 ENSG00000251022 OTTHUMG00000160729 uc003hnq.4 BC063702 NR_034075 31831555 MGI:1918676 THAP9-AS1 HGNC:44172 +HGNC:23193 THAP10 THAP domain containing 10 protein-coding gene gene with protein product Approved 15q23 15q23 THAP domain containing 65 2003-10-08 2016-10-05 56906 ENSG00000129028 OTTHUMG00000133388 uc002asv.4 AL360202 NM_020147 CCDS10237 Q9P2Z0 12575992 612538 HGNC:23193 "ENST00000249861.9|NM_020147.4" +HGNC:23194 THAP11 THAP domain containing 11 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "HRIHFB2206|CTG-B45d|CTG-B43a|RONIN" THAP domain containing 65 2003-10-08 2019-09-19 57215 ENSG00000168286 OTTHUMG00000137546 uc002euo.4 AB015338 NM_020457 CCDS10847 Q96EK4 "12575992|8325628" MGI:1930964 RGD:1310268 609119 HGNC:23194 "ENST00000303596.3|NM_020457.3" +HGNC:9440 THAP12 THAP domain containing 12 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "P52rIPK|DAP4|THAP0" "death-associated protein 4|P58IPK-regulatory protein|52 kDa repressor of the inhibitor of the protein kinase" PRKRIR protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) THAP domain containing 65 1998-01-30 2016-02-12 2016-02-12 2016-02-12 5612 ENSG00000137492 OTTHUMG00000165280 uc001oxh.2 AF007393 NM_004705 CCDS8243 O43422 "9447982|15863623" MGI:1920231 RGD:1309679 607374 HGNC:9440 "ENST00000260045.8|NM_004705.4" +HGNC:39563 THAP12P1 THAP domain containing 12 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 PRKRIRP1 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 1 2011-03-09 2016-02-12 2016-02-12 2016-02-12 728748 ENSG00000230665 OTTHUMG00000021854 NG_022612 PGOHUM00000241398 HGNC:39563 +HGNC:39566 THAP12P2 THAP domain containing 12 pseudogene 2 pseudogene pseudogene Approved 3p12.1 03p12.1 PRKRIRP2 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 2 2011-03-14 2016-02-12 2016-02-12 2016-02-12 100422711 ENSG00000243915 OTTHUMG00000158989 NG_025711 PGOHUM00000238090 HGNC:39566 +HGNC:39567 THAP12P3 THAP domain containing 12 pseudogene 3 pseudogene pseudogene Approved 10q21.1 10q21.1 PRKRIRP3 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 3 2011-03-14 2016-02-12 2016-02-12 2016-02-12 399774 ENSG00000227972 OTTHUMG00000018250 NG_022179 PGOHUM00000238800 HGNC:39567 +HGNC:39568 THAP12P4 THAP domain containing 12 pseudogene 4 pseudogene pseudogene Approved 11p14.3 11p14.3 PRKRIRP4 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 4 2011-03-14 2016-02-12 2016-02-12 2016-02-12 100129382 ENSG00000254465 OTTHUMG00000166085 NG_021813 PGOHUM00000242616 HGNC:39568 +HGNC:39569 THAP12P5 THAP domain containing 12 pseudogene 5 pseudogene pseudogene Approved 6p24.2 06p24.2 PRKRIRP5 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 5 2011-03-14 2016-02-12 2016-02-12 2016-02-12 100129074 ENSG00000218020 OTTHUMG00000014258 NG_022344 PGOHUM00000243487 HGNC:39569 +HGNC:39570 THAP12P6 THAP domain containing 12 pseudogene 6 pseudogene pseudogene Approved 13q12.13 13q12.13 PRKRIRP6 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 6 2011-03-14 2016-02-12 2016-02-12 2016-02-12 100128764 ENSG00000227882 OTTHUMG00000016616 NG_011462 PGOHUM00000248546 HGNC:39570 +HGNC:39574 THAP12P7 THAP domain containing 12 pseudogene 7 pseudogene pseudogene Approved 8q21.13 08q21.13 PRKRIRP7 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 7 2011-03-14 2016-02-12 2016-02-12 2016-10-05 100422712 ENSG00000253919 OTTHUMG00000164621 NG_026040 PGOHUM00000249398 HGNC:39574 +HGNC:39572 THAP12P8 THAP domain containing 12 pseudogene 8 pseudogene pseudogene Approved 1q43 01q43 PRKRIRP8 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 8 2011-03-14 2016-02-12 2016-02-12 2016-02-12 645939 ENSG00000223963 OTTHUMG00000039933 NG_022760 PGOHUM00000244505 HGNC:39572 +HGNC:39573 THAP12P9 THAP domain containing 12 pseudogene 9 pseudogene pseudogene Approved 4p12 04p12 PRKRIRP9 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 9 2011-03-14 2016-02-12 2016-02-12 2016-02-12 100131309 ENSG00000248320 OTTHUMG00000160567 NG_022010 PGOHUM00000245510 HGNC:39573 +HGNC:39741 THAP12P10 THAP domain containing 12 pseudogene 10 pseudogene pseudogene Approved 13q14.2 13q14.2 PRKRIRP10 protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 10 2011-03-24 2016-02-12 2016-02-12 2016-02-12 100422715 NG_024925 PGOHUM00000248590 HGNC:39741 +HGNC:11784 THBD thrombomodulin protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "CD141|THRM|BDCA-3" fetomodulin "CD molecules|C-type lectin domain containing" "471|1298" 2001-06-22 2021-05-26 7056 ENSG00000178726 OTTHUMG00000032053 uc002wss.4 NM_000361 CCDS13148 P07204 MGI:98736 RGD:621299 LRG_168|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_168.xml 188040 120088 CD141 HGNC:11784 "ENST00000377103.3|NM_000361.3" HGNC:11784 +HGNC:11785 THBS1 thrombospondin 1 protein-coding gene gene with protein product Approved 15q14 15q14 "TSP1|THBS|TSP|THBS-1|TSP-1" thrombospondin-1p180 1989-10-10 2016-10-05 7057 ENSG00000137801 OTTHUMG00000133665 uc001zkh.4 NM_003246 CCDS32194 P07996 "2341158|2335352" MGI:98737 RGD:1588455 188060 HGNC:11785 "ENST00000260356.6|NM_003246.4" +HGNC:55224 THBS1-AS1 THBS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q14 15q14 Antisense RNAs 1987 2020-09-16 2020-09-16 118597840 ENSG00000278621 +HGNC:55225 THBS1-IT1 THBS1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 15q14 15q14 Intronic transcripts 1989 2020-09-16 2020-09-16 118597829 ENSG00000276107 +HGNC:11786 THBS2 thrombospondin 2 protein-coding gene gene with protein product Approved 6q27 06q27 TSP2 1991-11-21 2015-09-08 7058 ENSG00000186340 OTTHUMG00000045408 uc003qwt.5 NM_003247 CCDS34574 P35442 18455130 MGI:98738 RGD:1310979 188061 HGNC:11786 "ENST00000617924.6|NM_003247.5" +HGNC:56059 THBS2-AS1 THBS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q27 06q27 Antisense RNAs 1987 2021-12-09 2022-01-17 101929523 ENSG00000226445 NR_134621 +HGNC:11787 THBS3 thrombospondin 3 protein-coding gene gene with protein product Approved 1q22 01q22 1994-11-18 2016-10-05 7059 ENSG00000169231 OTTHUMG00000035710 uc001fix.4 L38969 NM_007112 "CCDS72937|CCDS1099|CCDS58034" P49746 1601886 MGI:98739 RGD:1596780 188062 HGNC:11787 "ENST00000368378.7|NM_007112.5" HGNC:11787 +HGNC:40582 THBS3-AS1 THBS3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q22 01q22 Antisense RNAs 1987 2020-03-30 2020-03-30 105371450 ENSG00000231064 OTTHUMG00000035709 XR_001738241 +HGNC:11788 THBS4 thrombospondin 4 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 1995-05-17 2016-10-05 7060 ENSG00000113296 OTTHUMG00000108173 uc021yaw.2 NM_001306212 "CCDS78027|CCDS4049" P35443 7852353 MGI:1101779 RGD:62046 600715 HGNC:11788 "ENST00000350881.6|NM_003248.6" +HGNC:40583 THBS4-AS1 THBS4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.1 05q14.1 Antisense RNAs 1987 2020-03-30 2020-03-30 101929215 ENSG00000249825 OTTHUMG00000162569 NR_109930 +HGNC:13706 THEG theg spermatid protein protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "CT56|THEG1" cancer/testis antigen 56 Theg homolog (mouse) 2002-11-08 2012-02-24 2014-11-19 51298 ENSG00000105549 OTTHUMG00000165491 uc002lol.4 AF268610 NM_016585 "CCDS12026|CCDS12025" Q9P2T0 11173852 MGI:1338756 RGD:1309240 609503 HGNC:13706 "ENST00000342640.9|NM_016585.5" +HGNC:43771 THEGL theg spermatid protein like protein-coding gene gene with protein product Approved 4q12 04q12 2012-02-22 2012-02-24 2017-02-20 2017-02-20 100506564 ENSG00000249693 OTTHUMG00000160770 uc031seh.2 DB450279 NM_001256475 CCDS58899 P0DJG4 MGI:1919118 RGD:1562571 HGNC:43771 "ENST00000512175.3|NM_001256475.2" +HGNC:17947 THEM4 thioesterase superfamily member 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 CTMP C-terminal modulator protein Thioesterase superfamily 1832 2005-09-12 2014-11-19 117145 ENSG00000159445 OTTHUMG00000013049 uc001ezj.3 AJ313515 NM_053055 CCDS1006 Q5T1C6 11598301 MGI:1923028 RGD:1304723 606388 HGNC:17947 "ENST00000368814.8|NM_053055.5" +HGNC:32692 THEM4P1 thioesterase superfamily member 4 pseudogene 1 pseudogene pseudogene Approved 12p12.1 12p12.1 2006-04-10 2006-04-10 2014-11-18 677880 NG_032023 HGNC:32692 +HGNC:26755 THEM5 thioesterase superfamily member 5 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ37964 Thioesterase superfamily 1832 2005-09-12 2014-11-19 284486 ENSG00000196407 OTTHUMG00000013070 uc021oyw.2 AK095283 NM_182578 CCDS1005 Q8N1Q8 MGI:1913448 RGD:1562059 615653 HGNC:26755 "ENST00000368817.10|NM_182578.4" +HGNC:29656 THEM6 thioesterase superfamily member 6 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 DSCD75 C8orf55 chromosome 8 open reading frame 55 Thioesterase superfamily 1832 2005-08-26 2012-04-13 2012-04-13 2014-11-19 51337 ENSG00000130193 OTTHUMG00000164673 uc003yww.2 BC001311 NM_016647 CCDS6386 Q8WUY1 12477932 MGI:1925301 RGD:1359378 HGNC:29656 "ENST00000336138.4|NM_016647.3" +HGNC:50386 THEM7P thioesterase superfamily member 7, pseudogene pseudogene pseudogene Approved 11p13 11p13 RP1-65P5.1 Thioesterase superfamily 1832 2014-04-21 2014-04-25 106480297 ENSG00000227160 OTTHUMG00000154120 NG_044232 MGI:1921338 HGNC:50386 +HGNC:21569 THEMIS thymocyte selection associated protein-coding gene gene with protein product Approved 6q22.33 06q22.33 "bA325O24.4|FLJ40584|bA325O24.3" thymocyte expressed molecule involved in selection "C6orf207|C6orf190|TSEPA" "chromosome 6 open reading frame 207|chromosome 6 open reading frame 190|thymocyte selection pathway associated" 2003-11-25 2009-06-25 2009-06-25 2017-08-03 387357 ENSG00000172673 OTTHUMG00000015534 uc063rfx.1 AK094863 NM_001010923 "CCDS55055|CCDS34534|CCDS55056" Q8N1K5 "19597499|19597498|19597497" MGI:2443552 RGD:1560849 613607 HGNC:21569 "ENST00000368248.5|NM_001010923.3" +HGNC:16839 THEMIS2 thymocyte selection associated family member 2 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "ICB-1|Icb-1" induced by contact to basement membrane 1 C1orf38 chromosome 1 open reading frame 38 2003-01-16 2012-07-10 2012-07-10 2016-10-05 9473 ENSG00000130775 OTTHUMG00000003735 uc001bpc.6 AF044896 NM_004848 "CCDS65461|CCDS30654|CCDS41290|CCDS30653" Q5TEJ8 16219472 MGI:2446213 RGD:1561016 617856 HGNC:16839 "ENST00000373921.8|NM_001105556.3" +HGNC:49196 THEMIS3P thymocyte selection associated family member 3, pseudogene pseudogene pseudogene Approved 18p11.22 18p11.22 2013-09-26 2019-12-17 100420484 ENSG00000229442 OTTHUMG00000154734 NG_026308 MGI:1921806 PGOHUM00000234982 HGNC:49196 +HGNC:26053 THG1L tRNA-histidine guanylyltransferase 1 like protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "ICF45|FLJ11601|FLJ20546|IHG-1|hTHG1" "interphase cytoplasmic foci protein 45|induced by high glucose-1" "tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)|tRNA-histidine guanylyltransferase 1-like" 2006-09-01 2016-01-28 2016-01-28 54974 ENSG00000113272 OTTHUMG00000130254 uc003lxd.4 AK223119 NM_017872 CCDS4341 Q9NWX6 11230166 MGI:1913878 RGD:1359513 618802 HGNC:26053 "ENST00000231198.12|NM_017872.5" HGNC:26053 +HGNC:26160 THNSL1 threonine synthase like 1 protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "FLJ22002|TSH1" "threonine synthase-like 1 (bacterial)|threonine synthase-like 1 (S. cerevisiae)|threonine synthase-like 1" 2004-05-27 2015-12-04 2016-10-05 79896 ENSG00000185875 OTTHUMG00000017828 uc057shy.1 AK025655 NM_024838 CCDS7147 Q8IYQ7 17034760 MGI:2139347 RGD:1564213 611260 HGNC:26160 "ENST00000376356.5|NM_024838.5" +HGNC:25602 THNSL2 threonine synthase like 2 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "FLJ10916|TSH2|SOFAT" secreted osteoclastogenic factor of activated T cells threonine synthase-like 2 (S. cerevisiae) 2007-06-20 2016-01-18 2016-01-18 55258 ENSG00000144115 OTTHUMG00000130314 uc002ssy.5 NM_018271 "CCDS74539|CCDS58718|CCDS2002" Q86YJ6 "17034760|19877052" MGI:3041254 RGD:1309144 611261 HGNC:25602 "ENST00000674334.2|NM_018271.5" +HGNC:19070 THOC1 THO complex 1 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "P84|HPR1" THO complex 770 2002-12-09 2015-08-26 9984 ENSG00000079134 OTTHUMG00000178051 uc002kkj.5 AK055354 NM_005131 CCDS45820 Q96FV9 "11979277|15998806" MGI:1919668 RGD:1308657 606930 HGNC:19070 "ENST00000261600.11|NM_005131.3" HGNC:19070 +HGNC:55334 THOC1-DT THOC1 divergent transcript non-coding RNA RNA, long non-coding Approved 18p11.32 18p11.32 Divergent transcripts 1990 2020-10-21 2020-10-21 119139900 ENSG00000263884 +HGNC:19073 THOC2 THO complex 2 protein-coding gene gene with protein product Approved Xq25 Xq25 "THO2|dJ506G2.1" "CXorf3|MRX12|MRX35" "chromosome X open reading frame 3|mental retardation, X-linked 12|mental retardation, X-linked 35" THO complex 770 2002-12-09 2004-08-09 2021-05-26 57187 ENSG00000125676 OTTHUMG00000022334 uc004etu.4 AF441770 NM_001081550 CCDS43988 Q8NI27 "11979277|15998806|26166480" MGI:2442413 RGD:1561623 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/THOC2 300395 460700 HGNC:19073 "ENST00000245838.13|NM_001081550.2" HGNC:19073 +HGNC:19072 THOC3 THO complex 3 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "TEX1|MGC5469" "WD repeat domain containing|THO complex" "362|770" 2002-12-09 2016-10-05 84321 ENSG00000051596 OTTHUMG00000130658 uc003mdg.6 BC006849 NM_001376902 CCDS4397 Q96J01 "11979277|15998806" MGI:1920916 RGD:1311669 606929 HGNC:19072 "ENST00000265097.9|NM_032361.4" +HGNC:40866 THOC3-AS1 THOC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 Antisense RNAs 1987 2020-03-30 2020-03-30 105377745 ENSG00000250801 OTTHUMG00000163180 XR_941269 +HGNC:19074 THOC5 THO complex 5 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "PK1.3|KIAA0983|Fmip|fSAP79" functional spliceosome-associated protein 79 C22orf19 chromosome 22 open reading frame 19 THO complex 770 2002-12-09 2016-10-05 8563 ENSG00000100296 OTTHUMG00000151291 uc003afu.4 AB023200 NM_003678 CCDS13859 Q13769 "11979277|8242058|10231032|19015024|18373705|15998806" MGI:1351333 RGD:1304991 612733 HGNC:19074 "ENST00000490103.6|NM_003678.5" +HGNC:28369 THOC6 THO complex 6 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "MGC2655|fSAP35" functional spliceosome-associated protein 35 WDR58 "WD repeat domain 58|THO complex 6 homolog (Drosophila)" "WD repeat domain containing|THO complex" "362|770" 2005-04-07 2006-03-02 2015-03-30 2021-05-26 79228 ENSG00000131652 OTTHUMG00000177451 uc002ctb.3 BC050674 NM_024339 "CCDS86500|CCDS10491|CCDS45392" Q86W42 15998806 MGI:2677480 RGD:708553 615403 364390 HGNC:28369 "ENST00000326266.13|NM_024339.5" HGNC:28369 +HGNC:29874 THOC7 THO complex 7 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "NIF3L1BP1|FLJ23445|fSAP24" "Ngg1 interacting factor 3 like 1 binding protein 1|functional spliceosome-associated protein 24" THO complex 7 homolog (Drosophila) THO complex 770 2006-03-16 2015-03-30 2015-03-30 80145 ENSG00000163634 OTTHUMG00000158767 uc003dlt.6 BC020599 NM_025075 "CCDS2900|CCDS74957" Q6I9Y2 "12951069|15998806" MGI:1913481 RGD:1305475 611965 HGNC:29874 "ENST00000295899.10|NM_025075.4" +HGNC:41249 THOC7-AS1 THOC7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.1 03p14.1 THOC7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874039 ENSG00000240549 OTTHUMG00000158760 uc032rpy.1 NR_104326 THOC7-AS1 HGNC:41249 +HGNC:11793 THOP1 thimet oligopeptidase 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 M3 metallopeptidase family 1438 1995-07-06 2021-09-20 7064 ENSG00000172009 OTTHUMG00000180492 uc002lwj.4 NM_003249 CCDS12095 P52888 "9790774|32847123" MGI:1354165 RGD:68330 601117 M03.001 3.4.24.15 HGNC:11793 "ENST00000307741.11|NM_003249.5" +HGNC:53788 THORLNC testis associated oncogenic lncRNA non-coding RNA RNA, long non-coding Approved 2q14.2 02q14.2 THOR testis-associated highly-conserved oncogenic long non-coding RNA Long non-coding RNAs with non-systematic symbols 1992 2018-07-04 2018-07-04 100506797 ENSG00000226856 OTTHUMG00000153418 NR_144530 "29245011|29626476|29752937|29753746" 619296 HGNC:53788 +HGNC:11795 THPO thrombopoietin protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "TPO|MPLLG" "prepro-thrombopoietin|megakaryocyte stimulating factor|myeloproliferative leukemia virus oncogene ligand|megakaryocyte growth and development factor|MPL ligand|megakaryocyte colony-stimulating factor|c-mpl ligand|thrombopoietin nirs" MGDF Receptor ligands 542 1994-11-04 2008-07-31 2022-01-28 7066 ENSG00000090534 OTTHUMG00000156745 uc003fol.2 NM_000460 "CCDS77867|CCDS54693|CCDS3265" P40225 8202154 MGI:101875 RGD:621438 LRG_580|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_580.xml 600044 120091 ligandId:5063 HGNC:11795 "ENST00000647395.1|NM_000460.4" HGNC:11795 +HGNC:11796 THRA thyroid hormone receptor alpha protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "EAR-7.1/EAR-7.2|THRA3|AR7|ERBA|NR1A1|TRalpha" "THRA1|THRA2|ERBA1" "thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)|thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)" Thyroid hormone receptors 2070 2001-06-22 2018-01-29 2021-04-28 7067 ENSG00000126351 OTTHUMG00000133332 uc002htv.4 J03239 NM_001190918 "CCDS58546|CCDS42316|CCDS11360" P10827 "6323162|6589608" MGI:98742 RGD:3857 190120 292134 objectId:588 HGNC:11796 "ENST00000450525.7|NM_199334.5" HGNC:11796 +HGNC:22964 THRAP3 thyroid hormone receptor associated protein 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "TRAP150|BCLAF2" "TR-associated protein, 150-kDa|BCLAF1 and THRAP3 family member 2" "WTAP complex|Spliceosomal A complex" "1420|1504" 2004-01-30 2017-06-09 9967 ENSG00000054118 OTTHUMG00000007866 uc001cae.5 AF117756 NM_005119 CCDS405 Q9Y2W1 MGI:2442637 RGD:1306129 603809 HGNC:22964 "ENST00000354618.10|NM_005119.4" +HGNC:32386 THRAP3P1 THRAP3 pseudogene 1 pseudogene pseudogene Approved 3p23 03p23 THRAP3L "thyroid hormone receptor associated protein 3-like|thyroid hormone receptor associated protein 3 pseudogene 1" 2005-11-15 2010-01-14 2020-01-22 2020-04-20 391524 ENSG00000227339 OTTHUMG00000155810 NG_021114 HGNC:32386 +HGNC:54830 THRAP3P2 THRAP3 pseudogene 2 pseudogene pseudogene Approved 15q26.1 15q26.1 2020-01-22 2020-01-22 100421632 ENSG00000259057 OTTHUMG00000171697 NG_025351 PGOHUM00000293077 +HGNC:54834 THRAP3P3 THRAP3 pseudogene 3 pseudogene pseudogene Approved 7p21.3 07p21.3 2020-01-22 2020-01-22 100421595 ENSG00000235920 OTTHUMG00000152345 NG_026438 PGOHUM00000302047 +HGNC:11799 THRB thyroid hormone receptor beta protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "THRB1|THRB2|NR1A2|THR1|ERBA-BETA|GRTH|TRbeta" "avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2|oncogene ERBA2|generalized resistance to thyroid hormone|thyroid hormone receptor beta 1" "ERBA2|PRTH" "thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)|pituitary resistance to thyroid hormone|thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)|thyroid hormone receptor, beta" Thyroid hormone receptors 2070 1988-08-31 2016-02-23 2021-04-28 7068 ENSG00000151090 OTTHUMG00000130478 uc003ccx.5 NM_000461 CCDS2641 P10828 "1973914|8040303" MGI:98743 RGD:3858 190160 120101 objectId:589 HGNC:11799 "ENST00000646209.2|NM_001354712.2" HGNC:11799 +HGNC:44515 THRB-AS1 THRB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.2 03p24.2 Antisense RNAs 1987 2012-11-14 2012-11-14 644990 ENSG00000228791 OTTHUMG00000155683 uc062hof.1 NR_046244 THRB-AS1 HGNC:44515 +HGNC:54854 THRB-AS2 THRB antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p24.2 03p24.2 Antisense RNAs 1987 2020-02-28 2020-02-28 101927854 NR_121667 32087271 +HGNC:41390 THRB-IT1 THRB intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3p24.2 03p24.2 THRB intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874274 ENSG00000224822 OTTHUMG00000155680 uc062hny.1 THRB-IT1 +HGNC:49503 THRIL TNF and HNRNPL related immunoregulatory long non-coding RNA non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 "Linc1992|TCONS_00020260|BRI3BP-AS1" "TNFalpha and hnRNPL related immunoregulatory LincRNA|BRI3BP antisense RNA 1" Long non-coding RNAs with non-systematic symbols 1992 2014-01-01 2016-11-24 102659353 ENSG00000280634 OTTHUMG00000189748 AK025766 NR_110375 24371310 615622 thril THRIL HGNC:49503 +HGNC:11800 THRSP thyroid hormone responsive protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "SPOT14|Lpgp|S14|THRP" SPOT14 homolog (rat) LPGP1 "thyroid hormone responsive SPOT14 (rat) homolog|lipogenic protein 1" 1996-12-30 2010-06-25 2014-11-19 7069 ENSG00000151365 OTTHUMG00000166632 uc001oyx.4 Y08409 NM_003251 CCDS8256 Q92748 9003802 MGI:109126 RGD:3859 601926 HGNC:11800 "ENST00000281030.2|NM_003251.4" +HGNC:17754 THSD1 thrombospondin type 1 domain containing 1 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 TMTSP thrombospondin, type I, domain 1 2003-01-24 2015-11-09 2021-05-26 55901 ENSG00000136114 OTTHUMG00000016963 uc001vgo.4 AK096289 NM_018676 "CCDS9432|CCDS9433" Q9NS62 MGI:1929096 RGD:1306998 616821 HGNC:17754 "ENST00000258613.5|NM_018676.4" HGNC:17754 +HGNC:31375 THSD1P1 thrombospondin type 1 domain containing 1 pseudogene 1 pseudogene pseudogene Approved 13q14.3 13q14.3 THSD1P thrombospondin, type I, domain containing 1 pseudogene 2004-03-17 2010-04-20 2015-11-09 2020-04-03 374500 ENSG00000285160 AK027536 NG_032770 PGOHUM00000248403 HGNC:31375 +HGNC:25835 THSD4 thrombospondin type 1 domain containing 4 protein-coding gene gene with protein product Approved 15q23 15q23 "FVSY9334|PRO34005|FLJ13710|ADAMTSL6" ADAMTS like 947 2006-02-08 2015-11-09 2015-11-09 79875 ENSG00000187720 OTTHUMG00000133389 uc002atb.2 AK023772 NM_024817 "CCDS10238|CCDS66817" Q6ZMP0 19734141 MGI:2672033 RGD:1566296 614476 HGNC:25835 "ENST00000261862.8|NM_024817.3" HGNC:25835 +HGNC:51420 THSD4-AS1 THSD4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q23 15q23 Antisense RNAs 1987 2014-11-21 2014-11-21 101929196 ENSG00000259964 OTTHUMG00000172838 "DA243226|DA296094" NR_120348 THSD4-AS1 HGNC:51420 +HGNC:51421 THSD4-AS2 THSD4 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 15q23 15q23 Antisense RNAs 1987 2014-11-21 2014-11-21 101929173 AK055527 NR_120346 THSD4-AS2 HGNC:51421 +HGNC:22207 THSD7A thrombospondin type 1 domain containing 7A protein-coding gene gene with protein product Approved 7p21.3 07p21.3 KIAA0960 2006-10-16 2015-11-09 2018-11-19 221981 ENSG00000005108 OTTHUMG00000152346 uc064bok.1 NM_015204 CCDS47543 Q9UPZ6 MGI:2685683 RGD:1566201 612249 HGNC:22207 "ENST00000423059.9|NM_015204.3" +HGNC:29348 THSD7B thrombospondin type 1 domain containing 7B protein-coding gene gene with protein product Approved 2q22.1 02q22.1 KIAA1679 2006-10-16 2015-11-09 2018-11-14 80731 ENSG00000144229 OTTHUMG00000153590 uc061ock.1 NM_001316349 CCDS82515 Q9C0I4 11214970 MGI:2443925 RGD:1306938 HGNC:29348 "ENST00000409968.6|NM_001316349.2" +HGNC:53785 THSD8 thrombospondin type 1 domain containing 8 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 2017-11-30 2017-11-30 111644133 ENSG00000284491 OTTHUMG00000191900 NM_001386800 A0A1W2PP97 "ENST00000639810.3|NM_001386800.1" +HGNC:18987 THTPA thiamine triphosphatase protein-coding gene gene with protein product Approved 14q11.2 14q11.2 THTPASE 2002-07-25 2015-08-14 79178 ENSG00000259431 OTTHUMG00000172558 uc001wkg.7 AF432862 NM_024328 "CCDS32053|CCDS58306|CCDS58307" Q9BU02 11827967 MGI:2446078 RGD:727917 611612 3.6.1.28 HGNC:18987 "ENST00000288014.7|NM_024328.6" +HGNC:23807 THUMPD1 THUMP domain containing 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "FLJ20274|Tan1" 2004-06-04 2016-10-05 55623 ENSG00000066654 OTTHUMG00000131558 uc002dhp.5 BC000448 NM_017736 CCDS10588 Q9NXG2 25653167 MGI:2444479 RGD:1308854 616662 HGNC:23807 "ENST00000396083.7|NM_017736.5" +HGNC:23808 THUMPD1P1 THUMP domain containing 1 pseudogene 1 pseudogene pseudogene Approved 21q21.3 21q21.3 2010-06-17 2014-11-19 391276 ENSG00000215317 OTTHUMG00000078749 NG_021991 PGOHUM00000239059 HGNC:23808 +HGNC:14890 THUMPD2 THUMP domain containing 2 protein-coding gene gene with protein product Approved 2p22.1 02p22.1 MGC2454 C2orf8 chromosome 2 open reading frame 8 7BS DNA/RNA methyltransferases 2059 2003-07-04 2004-06-04 2004-06-04 2016-10-05 80745 ENSG00000138050 OTTHUMG00000102149 uc002rru.3 AF380576 NM_025264 CCDS1805 Q9BTF0 12063391 MGI:1919417 RGD:1306878 611751 HGNC:14890 "ENST00000505747.6|NM_025264.5" +HGNC:24493 THUMPD3 THUMP domain containing 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 DKFZP434F091 7BS DNA/RNA methyltransferases 2059 2004-06-04 2022-01-10 25917 ENSG00000134077 OTTHUMG00000097031 uc003brn.5 AL117483 NM_015453 CCDS2573 Q9BV44 34669960 MGI:1277973 RGD:1560852 HGNC:24493 "ENST00000452837.7|NM_001114092.2" +HGNC:44478 THUMPD3-AS1 THUMPD3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.3 03p25.3 SETD5-AS1 SETD5 antisense RNA 1 Antisense RNAs 1987 2012-11-05 2014-01-14 2014-01-14 2021-10-11 440944 ENSG00000206573 OTTHUMG00000164357 BC052961 NR_027007 "30280788|34588321" MGI:104735 RGD:6491660 THUMPD3-AS1 HGNC:44478 +HGNC:50793 THUMPD3P1 THUMP domain containing 3 pseudogene 1 pseudogene pseudogene Approved 7p14.1 07p14.1 2014-06-18 2014-06-18 100419989 ENSG00000248711 OTTHUMG00000155106 NG_023422 PGOHUM00000233203 HGNC:50793 +HGNC:11801 THY1 Thy-1 cell surface antigen protein-coding gene gene with protein product Approved 11q23.3 11q23.3 CD90 "CD molecules|Immunoglobulin like domain containing|Ig-like cell adhesion molecule family" "471|594|1410" 2001-06-22 2015-07-22 7070 ENSG00000154096 OTTHUMG00000166202 uc001pwr.4 M11749 NM_006288 CCDS8424 P04216 2864690 MGI:98747 RGD:3860 188230 CD90 HGNC:11801 "ENST00000284240.10|NM_006288.5" +HGNC:54852 THY1-AS1 THY1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 RP11-334E6.12 Antisense RNAs 1987 2020-02-28 2020-11-11 117134602 ENSG00000263873 32104091 +HGNC:29560 THYN1 thymocyte nuclear protein 1 protein-coding gene gene with protein product Approved 11q25 11q25 THY28 2005-11-10 2014-11-18 29087 ENSG00000151500 OTTHUMG00000167176 uc001qhf.4 BC006978 NM_014174 "CCDS8496|CCDS8497" Q9P016 "14601557|12384300" MGI:1925112 RGD:1359525 613739 HGNC:29560 "ENST00000341541.8|NM_014174.3" +HGNC:11802 TIA1 TIA1 cytotoxic granule associated RNA binding protein protein-coding gene gene with protein product Approved 2p13.3 02p13.3 TIA-1 "T-cell-restricted intracellular antigen-1|nucleolysin TIA-1 isoform p40" TIA1 cytotoxic granule-associated RNA-binding protein RNA binding motif containing 725 1995-11-01 2016-08-11 2021-05-26 7072 ENSG00000116001 OTTHUMG00000129644 uc002sgk.5 NM_022037 "CCDS86847|CCDS1900|CCDS1901|CCDS86846|CCDS86848" P31483 "8176212|12486009" MGI:107914 RGD:1305742 603518 327795 HGNC:11802 "ENST00000433529.7|NM_022173.4" HGNC:11802 +HGNC:11804 TIAL1 TIA1 cytotoxic granule associated RNA binding protein like 1 protein-coding gene gene with protein product Approved 10q26.11 10q26.11 TIAR TIA1 related TIA1 cytotoxic granule-associated RNA-binding protein-like 1 RNA binding motif containing 725 1995-11-01 2016-08-11 2019-01-07 7073 ENSG00000151923 OTTHUMG00000019156 uc001lei.2 AL833106 "NM_022333|NM_003252" "CCDS31295|CCDS7613" Q01085 1326761 MGI:107913 RGD:1595845 603413 HGNC:11804 "ENST00000436547.7|NM_003252.4" +HGNC:11805 TIAM1 TIAM Rac1 associated GEF 1 protein-coding gene gene with protein product Approved 21q22.11 21q22.11 T-cell lymphoma invasion and metastasis 1 "Pleckstrin homology domain containing|Dbl family Rho GEFs|PDZ domain containing" "682|722|1220" 1994-04-22 2019-09-06 2019-09-06 7074 ENSG00000156299 OTTHUMG00000084869 uc002yow.2 NM_003253 "CCDS86983|CCDS13609" Q13009 "8595894|15340013|19893486" MGI:103306 RGD:1307455 600687 HGNC:11805 "ENST00000541036.6|NM_001353694.2" +HGNC:54361 TIAM1-AS1 TIAM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 Antisense RNAs 1987 2021-06-28 2021-06-28 150051 ENSG00000237594 NR_171013 +HGNC:11806 TIAM2 TIAM Rac1 associated GEF 2 protein-coding gene gene with protein product Approved 6q25.2-q25.3 06q25.2-q25.3 STEF Sif and Tiam1-like exchange factor T-cell lymphoma invasion and metastasis 2 "Pleckstrin homology domain containing|Dbl family Rho GEFs|PDZ domain containing" "682|722|1220" 1999-12-02 2019-09-06 2019-09-06 26230 ENSG00000146426 OTTHUMG00000015880 uc003qqb.3 NM_012454 "CCDS34559|CCDS34558" Q8IVF5 "10512681|19893486" MGI:1344338 RGD:2324148 604709 HGNC:11806 "ENST00000682666.1|NM_012454.4" +HGNC:18348 TICAM1 toll like receptor adaptor molecule 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "TRIF|TICAM-1|MGC35334|PRVTIRB" "TIR domain-containing adapter molecule 1|TIR domain-containing adaptor-inducing interferon-β" toll-like receptor adaptor molecule 1 TIR domain containing 1296 2005-06-27 2016-01-21 2021-04-13 148022 ENSG00000127666 OTTHUMG00000180248 uc002mbi.5 AB086380 NM_014261 CCDS12136 Q8IUC6 "12539043|12471095" MGI:2147032 RGD:1590868 LRG_358|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_358.xml 607601 292419 HGNC:18348 "ENST00000248244.6|NM_182919.4" HGNC:18348 +HGNC:21354 TICAM2 toll like receptor adaptor molecule 2 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "TRAM|TICAM-2|TIRP" toll-like receptor adaptor molecule 2 TIR domain containing 1296 2004-07-02 2016-01-21 2021-04-22 353376 ENSG00000243414 OTTHUMG00000162905 uc003krc.4 AY232653 NM_021649 CCDS4119 Q86XR7 14519765 MGI:3040056 RGD:1308258 608321 HGNC:21354 "ENST00000427199.3|NM_021649.7" +HGNC:55575 TICAM2-AS1 TICAM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q22.3 05q22.3 Antisense RNAs 1987 2021-04-22 2021-04-22 101927100 ENSG00000249249 NR_109874 +HGNC:28704 TICRR TOPBP1 interacting checkpoint and replication regulator protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "MGC45866|FLJ41618|Treslin|SLD3" "TOPBP1-interacting replication-stimulating protein|SLD3 homolog (S. cerevisiae)" C15orf42 chromosome 15 open reading frame 42 2005-10-25 2012-07-11 2016-02-22 2016-02-22 90381 ENSG00000140534 OTTHUMG00000149648 uc002boe.4 AK123612 NM_152259 "CCDS10352|CCDS76791" Q7Z2Z1 "20116089|20080954" MGI:1924261 RGD:1308541 613298 HGNC:28704 "ENST00000268138.12|NM_152259.4" +HGNC:11809 TIE1 tyrosine kinase with immunoglobulin like and EGF like domains 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 JTK14 TIE "tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1|tyrosine kinase with immunoglobulin-like and EGF-like domains 1" "Receptor tyrosine kinases|Fibronectin type III domain containing|Immunoglobulin like domain containing" "321|555|594" 1993-08-24 2004-12-14 2016-01-21 2016-10-05 7075 ENSG00000066056 OTTHUMG00000007282 uc001ciu.4 BC038239 NM_005424 CCDS482 P35590 1312667 MGI:99906 RGD:621642 600222 objectId:1841 2.7.10.1 HGNC:11809 "ENST00000372476.8|NM_005424.5" +HGNC:19075 TIFA TRAF interacting protein with forkhead associated domain protein-coding gene gene with protein product Approved 4q25 04q25 "MGC20791|T2BP|T6BP|TIFAA" "TRAF2 binding protein|TRAF6 binding protein" TRAF-interacting protein with forkhead-associated domain 2008-03-17 2016-01-28 2016-01-28 92610 ENSG00000145365 OTTHUMG00000161066 uc003ial.4 BC008294 NM_052864 CCDS34051 Q96CG3 1179819 MGI:2182965 RGD:1359151 609028 471220 HGNC:19075 "ENST00000361717.4|NM_052864.3" +HGNC:34024 TIFAB TIFA inhibitor protein-coding gene gene with protein product Approved 5q31.1 05q31.1 TRAF-interacting protein with forkhead-associated domain, family member B 2008-03-17 2016-01-28 2016-01-28 497189 ENSG00000255833 OTTHUMG00000129140 uc003law.5 AB161513 NM_001099221 CCDS43365 Q6ZNK6 15047173 MGI:2385852 RGD:1311681 612663 HGNC:34024 "ENST00000537858.2|NM_001099221.2" +HGNC:1185 TIGAR TP53 induced glycolysis regulatory phosphatase protein-coding gene gene with protein product Approved 12p13.32 12p13.32 TP53-induced glycolysis and apoptosis regulator C12orf5 chromosome 12 open reading frame 5 Sugar phosphatases 1073 2000-08-24 2015-04-01 2015-04-01 2020-09-17 57103 ENSG00000078237 OTTHUMG00000168124 AJ272206 NM_020375 CCDS8525 Q9NQ88 "18945750|19713938|2442317" MGI:2442752 RGD:1560038 610775 3.1.3.46 HGNC:1185 "ENST00000179259.6|NM_020375.3" +HGNC:14523 TIGD1 tigger transposable element derived 1 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 EEYORE "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes|MicroRNA protein coding host genes" "533|1415|1691" 2002-07-22 2017-03-30 200765 ENSG00000221944 OTTHUMG00000133260 uc002vsy.3 NM_145702 CCDS2495 Q96MW7 8643651 612972 HGNC:14523 "ENST00000408957.7|NM_145702.4" +HGNC:18333 TIGD2 tigger transposable element derived 2 protein-coding gene gene with protein product Approved 4q22.1 04q22.1 "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 2002-07-22 2016-10-05 166815 ENSG00000180346 OTTHUMG00000130946 uc062yek.1 AK027653 NM_145715 CCDS3633 Q4W5G0 MGI:1915390 RGD:1559612 612973 HGNC:18333 "ENST00000603357.3|NM_145715.3" HGNC:18333 +HGNC:18334 TIGD3 tigger transposable element derived 3 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 2002-07-22 2019-08-21 220359 ENSG00000173825 OTTHUMG00000165986 uc001odo.5 NM_145719 CCDS8101 Q6B0B8 MGI:2681860 RGD:1305393 619084 HGNC:18334 "ENST00000309880.6|NM_145719.3" +HGNC:18335 TIGD4 tigger transposable element derived 4 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 2002-07-22 2016-10-25 201798 ENSG00000169989 OTTHUMG00000161464 uc003imy.3 AK058054 NM_145720 CCDS34079 Q8IY51 MGI:2685264 RGD:1305780 HGNC:18335 "ENST00000304337.3|NM_145720.4" +HGNC:18336 TIGD5 tigger transposable element derived 5 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ14926 "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 2002-07-22 2016-11-01 84948 ENSG00000179886 OTTHUMG00000162260 uc003yyx.3 AK027832 NM_032862 CCDS6406 Q53EQ6 MGI:2145902 RGD:1311576 HGNC:18336 "ENST00000504548.4|NM_032862.5" +HGNC:18332 TIGD6 tigger transposable element derived 6 protein-coding gene gene with protein product Approved 5q32 05q32 DKFZp761E2110 "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 2002-07-22 2016-10-05 81789 ENSG00000164296 OTTHUMG00000130045 uc003lrj.4 AK056604 NM_030953 CCDS4301 Q17RP2 11230166 HGNC:18332 "ENST00000296736.4|NM_030953.4" +HGNC:18331 TIGD7 tigger transposable element derived 7 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Sancho "Helix-turn-helix CENPB type domain containing|DNA transposon derived genes" "533|1415" 2002-07-22 2016-10-05 91151 ENSG00000140993 OTTHUMG00000129325 uc002cus.4 AF251050 NM_033208 CCDS10500 Q6NT04 612969 HGNC:18331 "ENST00000396862.2|NM_033208.4" +HGNC:26838 TIGIT T cell immunoreceptor with Ig and ITIM domains protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "FLJ39873|DKFZp667A205" "VSIG9|VSTM3" VSIG9, VSTM3 V-set domain containing 590 2006-02-07 2008-10-13 2017-12-06 2017-12-06 201633 ENSG00000181847 OTTHUMG00000159331 uc062mqn.1 AK097192 NM_173799 CCDS2980 Q495A1 19011627 MGI:3642260 RGD:1563191 612859 objectId:2941 HGNC:26838 "ENST00000383671.8|NM_173799.4" +HGNC:53077 TILRLS TCL1A interacting lncRNA, retroperitoneal liposarcoma associated non-coding RNA RNA, long non-coding Approved 5q12.3 05q12.3 PILRLS proliferation interacting lncRNA in retroperitoneal liposarcoma Long non-coding RNAs with non-systematic symbols 1992 2021-11-18 2021-11-18 123706549 ENSG00000251206 OTTHUMG00000162351 28129655 +HGNC:25132 TIMD4 T cell immunoglobulin and mucin domain containing 4 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 TIM4 T-cell immunoglobulin and mucin domain containing 4 V-set domain containing 590 2004-07-22 2017-12-06 2019-03-19 91937 ENSG00000145850 OTTHUMG00000130244 uc003lwh.2 BC008988 NM_138379 "CCDS4332|CCDS54943" Q96H15 18082433 MGI:2445125 RGD:1564516 610096 HGNC:25132 "ENST00000274532.7|NM_138379.3" +HGNC:11813 TIMELESS timeless circadian regulator protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "hTIM|TIM|TIM1" "Tof1 homolog (S. cerevisiae)|timeless circadian clock 1" "timeless (Drosophila) homolog|timeless homolog (Drosophila)" 1999-01-08 2017-10-02 2017-10-02 8914 ENSG00000111602 OTTHUMG00000170600 uc001slf.3 AF098162 NM_003920 "CCDS8918|CCDS81699" Q9UNS1 9856465 MGI:1321393 RGD:620939 603887 HGNC:11813 "ENST00000553532.6|NM_003920.5" +HGNC:11817 TIMM8A translocase of inner mitochondrial membrane 8A protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "DDP|MTS" DFN1 "translocase of inner mitochondrial membrane 8 (yeast) homolog A|translocase of inner mitochondrial membrane 8 homolog A (yeast)" 1999-12-01 2017-01-18 2017-01-18 1678 ENSG00000126953 OTTHUMG00000022028 uc004ehd.3 U66035 NM_004085 "CCDS87768|CCDS14481" O60220 "10552927|8841189" MGI:1353433 RGD:621801 300356 120107 HGNC:11817 "ENST00000372902.4|NM_004085.4" HGNC:11817 +HGNC:17802 TIMM8AP1 translocase of inner mitochondrial membrane 8A pseudogene 1 pseudogene pseudogene Approved 2q24.2 02q24.2 DDPP deafness dystonia pseudogene TIMM8AP "translocase of inner mitochondrial membrane 8 homolog A (yeast) pseudogene|translocase of inner mitochondrial membrane 8 homolog A (yeast) pseudogene 1" 2007-07-26 2010-02-24 2017-01-18 2018-01-12 399520 ENSG00000231445 OTTHUMG00000154346 U66034 NG_003187.2 8841189 PGOHUM00000240411 HGNC:17802 +HGNC:11818 TIMM8B translocase of inner mitochondrial membrane 8 homolog B protein-coding gene gene with protein product Approved 11q23.1 11q23.1 "TIM8B|DDP2|FLJ21744|MGC102866|MGC117373" mitochondrial import inner membrane translocase subunit Tim8 B translocase of inner mitochondrial membrane 8 homolog B (yeast) 1999-12-01 2017-01-18 2017-01-18 26521 ENSG00000150779 OTTHUMG00000162261 uc058hho.1 AF150087 NM_012459 CCDS8357 Q9Y5J9 10552927 MGI:1353424 RGD:619840 606659 HGNC:11818 "ENST00000504148.3|NM_012459.4" +HGNC:39211 TIMM8BP1 translocase of inner mitochondrial membrane 8B pseudogene 1 pseudogene pseudogene Approved 13q12.3 13q12.3 2010-11-23 2010-11-23 100874425 ENSG00000236258 OTTHUMG00000016660 NG_032236 PGOHUM00000248350 HGNC:39211 +HGNC:39212 TIMM8BP2 translocase of inner mitochondrial membrane 8B pseudogene 2 pseudogene pseudogene Approved Xq26.2 Xq26.2 2010-11-23 2010-11-23 100874417 ENSG00000224908 OTTHUMG00000022449 NG_032237 PGOHUM00000250087 HGNC:39212 +HGNC:11819 TIMM9 translocase of inner mitochondrial membrane 9 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 TIM9A "translocase of inner mitochondrial membrane 9 (yeast) homolog|translocase of inner mitochondrial membrane 9 homolog (yeast)" TIM22 complex 1337 1999-12-01 2016-02-29 2016-02-29 26520 ENSG00000100575 OTTHUMG00000140322 uc001xds.4 AF150100 NM_001304485 "CCDS76685|CCDS86393|CCDS9735|CCDS86394" Q9Y5J7 "10552927|14726512" MGI:1353436 RGD:621656 607384 HGNC:11819 "ENST00000395159.7|NM_012460.4" +HGNC:39928 TIMM9P1 TIMM9 pseudogene 1 pseudogene pseudogene Approved 10q22.2 10q22.2 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 1 2011-04-12 2014-12-17 2014-12-17 100862726 ENSG00000236900 OTTHUMG00000018503 NG_030484 PGOHUM00000238535 HGNC:39928 +HGNC:39929 TIMM9P2 TIMM9 pseudogene 2 pseudogene pseudogene Approved 21q22.2 21q22.2 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 2 2011-04-12 2014-12-17 2014-12-17 100862727 ENSG00000232608 OTTHUMG00000066153 NG_029919 PGOHUM00000239177 HGNC:39929 +HGNC:39930 TIMM9P3 TIMM9 pseudogene 3 pseudogene pseudogene Approved 13q14.13 13q14.13 translocase of inner mitochondrial membrane 9 homolog (yeast) pseudogene 3 2011-04-12 2014-12-17 2014-12-17 100862725 ENSG00000232786 OTTHUMG00000016857 NG_032132 PGOHUM00000248390 HGNC:39930 +HGNC:11814 TIMM10 translocase of inner mitochondrial membrane 10 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "TIM10|TIM10A|TIMM10A" "translocase of inner mitochondrial membrane 10 (yeast) homolog|translocase of inner mitochondrial membrane 10 homolog (yeast)" TIM22 complex 1337 1999-12-01 2016-09-30 2016-09-30 26519 ENSG00000134809 OTTHUMG00000167039 uc001nkm.2 AF152354 NM_012456 CCDS7959 P62072 10552927 MGI:1353429 RGD:621741 602251 HGNC:11814 "ENST00000257245.9|NM_012456.3" +HGNC:4022 TIMM10B translocase of inner mitochondrial membrane 10B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "Tim9b|TIM10B" FXC1 "fracture callus 1 (rat) homolog|fracture callus 1 homolog (rat)|translocase of inner mitochondrial membrane 10 homolog B (yeast)" TIM22 complex 1337 1999-12-01 2012-12-07 2016-09-30 2016-09-30 26515 ENSG00000132286 OTTHUMG00000179826 uc001mdn.5 AF150105 NM_012192 CCDS7766 Q9Y5J6 10552927 MGI:1315196 RGD:71097 607388 HGNC:4022 "ENST00000254616.11|NM_012192.4" +HGNC:11816 TIMM13 translocase of inner mitochondrial membrane 13 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Tim13 TIMM13B "translocase of inner mitochondrial membrane 13 (yeast) homolog B|translocase of inner mitochondrial membrane 13 homolog (yeast)" 1999-12-01 2002-03-17 2016-02-29 2016-02-29 26517 ENSG00000099800 OTTHUMG00000180432 uc002lvx.3 AF152352 NM_012458 CCDS12089 Q9Y5L4 "10552927|17329230" MGI:1353432 RGD:628845 607383 HGNC:11816 "ENST00000215570.8|NM_012458.4" +HGNC:17315 TIMM17A translocase of inner mitochondrial membrane 17A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "TIM17|TIM17A" translocase of inner mitochondrial membrane 17 homolog A (yeast) "TIM23 complex|Tim17 family" "1552|1857" 2002-01-15 2017-01-18 2017-01-18 10440 ENSG00000134375 OTTHUMG00000035806 uc001gxc.3 AF106622 NM_006335 CCDS1417 Q99595 "8893850|10339406" MGI:1343131 RGD:3862 605057 HGNC:17315 "ENST00000367287.5|NM_006335.3" +HGNC:17310 TIMM17B translocase of inner mitochondrial membrane 17B protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "DXS9822|JM3" translocase of inner mitochondrial membrane 17 homolog B (yeast) "TIM23 complex|Tim17 family" "1552|1857" 2002-01-15 2017-01-18 2020-04-02 10245 ENSG00000126768 OTTHUMG00000034498 uc004dlc.2 AF034790 NM_005834 "CCDS14308|CCDS55411" O60830 10339406 MGI:1343176 RGD:1561744 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TIMM17B 300249 HGNC:17310 +HGNC:49865 TIMM17BP1 translocase of inner mitochondrial membrane 17B pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 translocase of inner mitochondrial membrane 17 homolog B (yeast) pseudogene 1 2014-03-18 2017-01-18 2017-01-18 390298 ENSG00000256756 OTTHUMG00000168807 NG_030132 PGOHUM00000239693 HGNC:49865 +HGNC:25010 TIMM21 translocase of inner mitochondrial membrane 21 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "HSPC154|TIM21" C18orf55 "chromosome 18 open reading frame 55|translocase of inner mitochondrial membrane 21 homolog (yeast)" TIM23 complex 1552 2005-01-06 2011-11-25 2016-03-07 2016-03-07 29090 ENSG00000075336 OTTHUMG00000132844 uc010dqr.2 BC000892 NM_014177 CCDS12003 Q9BVV7 "11042152|23260140" MGI:1920595 RGD:1307279 615180 HGNC:25010 "ENST00000169551.11|NM_014177.3" +HGNC:17317 TIMM22 translocase of inner mitochondrial membrane 22 protein-coding gene gene with protein product Approved 17p13 17p13 TIM22 TEX4 "testis-expressed sequence 4|translocase of inner mitochondrial membrane 22 homolog (yeast)" "TIM22 complex|Tim17 family" "1337|1857" 2002-01-15 2016-09-30 2019-08-20 29928 ENSG00000177370 OTTHUMG00000180175 uc002fsc.4 AF155330 NM_013337 CCDS32521 Q9Y584 "10611480|14726512" MGI:1929742 RGD:68406 607251 HGNC:17317 "ENST00000327158.5|NM_013337.4" HGNC:17317 +HGNC:17312 TIMM23 translocase of inner mitochondrial membrane 23 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 TIM23 translocase of inner mitochondrial membrane 23 homolog (yeast) "TIM23 complex|Small nucleolar RNA protein coding host genes|Tim17 family" "1552|1835|1857" 2002-01-15 2016-03-07 2020-04-20 100287932 ENSG00000265354 OTTHUMG00000188299 uc001jiu.5 AF030162 NM_006327.2 CCDS73091 O14925 "10339406|23260140" MGI:1858317 RGD:3863 605034 HGNC:17312 "ENST00000580018.4|NM_006327.4" +HGNC:23581 TIMM23B translocase of inner mitochondrial membrane 23 homolog B protein-coding gene gene with protein product Approved 10q11.23 10q11.23 bA592B15.7 translocase of inner mitochondrial membrane 23 homolog B (yeast) "TIM23 complex|Small nucleolar RNA protein coding host genes" "1552|1835" 2004-05-28 2017-01-18 2020-04-20 100652748 ENSG00000204152 OTTHUMG00000018213 uc031wgt.2 NM_001290117 "CCDS76301|CCDS73131" Q5SRD1 MGI:1858317 HGNC:23581 "ENST00000651259.3|NM_001290117.2" +HGNC:45009 TIMM23B-AGAP6 TIMM23B-AGAP6 readthrough (NMD candidate) other readthrough Approved 10q11.23 10q11.23 LINC00843 long intergenic non-protein coding RNA 843 2013-01-07 2019-06-20 2019-12-20 2019-12-20 113218477 ENSG00000178440 OTTHUMG00000018218 uc057tfo.1 BC035067 NR_158656 LINC00843 HGNC:45009 +HGNC:25152 TIMM29 translocase of inner mitochondrial membrane 29 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 TIM29 C19orf52 chromosome 19 open reading frame 52 TIM22 complex 1337 2006-08-08 2016-09-30 2016-09-30 2019-08-12 90580 ENSG00000142444 OTTHUMG00000180700 uc002mqd.3 BC011833 NM_138358 CCDS12252 Q9BSF4 27554484 MGI:1917023 RGD:1309188 617380 HGNC:25152 "ENST00000270502.7|NM_138358.4" +HGNC:17316 TIMM44 translocase of inner mitochondrial membrane 44 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 TIM44 translocase of inner mitochondrial membrane 44 homolog (yeast) TIM23 complex 1552 2002-01-15 2016-03-07 2016-03-07 10469 ENSG00000104980 OTTHUMG00000182478 uc002miz.4 AF026030 NM_006351 CCDS12192 O43615 "10848612|10339406" MGI:1343262 RGD:3864 605058 HGNC:17316 "ENST00000270538.8|NM_006351.4" HGNC:17316 +HGNC:23656 TIMM50 translocase of inner mitochondrial membrane 50 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "TIM50L|TIM50" translocase of inner mitochondrial membrane 50 homolog (yeast) CTD family phosphatases 1041 2003-12-02 2016-03-07 2019-05-22 92609 ENSG00000105197 OTTHUMG00000183066 uc002olu.1 BC009072 NM_001001563 CCDS33023 Q3ZCQ8 "12437925|21930695" MGI:1913775 RGD:1587684 607381 HGNC:23656 "ENST00000607714.6|NM_001001563.5" HGNC:23656 +HGNC:1321 TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 protein-coding gene gene with protein product Approved 3q13.33 03q13.33 FLJ22597 C3orf1 chromosome 3 open reading frame 1 "Mitochondrial complex I assembly complex|Tim17 family" "1387|1857" 1999-12-07 2011-07-05 2011-07-05 2020-09-17 51300 ENSG00000113845 OTTHUMG00000159388 uc003ecn.4 AF210057 NM_016589 CCDS33831 Q9NPL8 "11092749|24344204" MGI:1922139 RGD:1359380 615534 471224 HGNC:1321 "ENST00000494664.6|NM_016589.4" HGNC:1321 +HGNC:55207 TIMMDC1-DT TIMMDC1 divergent transcript non-coding RNA RNA, long non-coding Approved 3q13.33 03q13.33 Divergent transcripts 1990 2020-08-21 2020-08-21 118568812 ENSG00000272662 +HGNC:11820 TIMP1 TIMP metallopeptidase inhibitor 1 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 EPO "TIMP|CLGI" tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor) Tissue inhibitor of metallopeptidases 892 1986-01-01 2005-08-08 2020-04-02 7076 ENSG00000102265 OTTHUMG00000021447 uc004dif.4 NM_003254 CCDS14281 P01033 MGI:98752 RGD:621675 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TIMP1 305370 470288 I35.001 ligandId:5309 HGNC:11820 "ENST00000218388.9|NM_003254.3" +HGNC:11821 TIMP2 TIMP metallopeptidase inhibitor 2 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 CSC-21K tissue inhibitor of metalloproteinase 2 Tissue inhibitor of metallopeptidases 892 1992-06-18 2005-08-08 2016-10-05 7077 ENSG00000035862 OTTHUMG00000154517 uc002jwf.4 NM_003255 CCDS11758 P16035 1427908 MGI:98753 RGD:61312 188825 I35.002 ligandId:5310 HGNC:11821 "ENST00000262768.11|NM_003255.5" +HGNC:11822 TIMP3 TIMP metallopeptidase inhibitor 3 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 SFD tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory) Tissue inhibitor of metallopeptidases 892 1993-04-12 2008-07-31 2021-05-26 7078 ENSG00000100234 OTTHUMG00000030784 uc003anb.4 NM_000362 CCDS13911 P35625 "8188246|12652295" MGI:98754 RGD:3865 Mutations of the Tissue Inhibitor of Metalloproteases 3 Gene|http://www.retina-international.org/files/sci-news/timpmut.htm 188826 120112 I35.003 ligandId:5311 HGNC:11822 "ENST00000266085.7|NM_000362.5" HGNC:11822 +HGNC:11823 TIMP4 TIMP metallopeptidase inhibitor 4 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 tissue inhibitor of metalloproteinase 4 Tissue inhibitor of metallopeptidases 892 1997-07-07 2005-08-08 2016-10-05 7079 ENSG00000157150 OTTHUMG00000129763 uc003bwo.4 U76456 NM_003256 CCDS2608 Q99727 "8939999|9693046" MGI:109125 RGD:69077 601915 I35.004 ligandId:5312 HGNC:11823 "ENST00000287814.5|NM_003256.4" +HGNC:14599 TINAG tubulointerstitial nephritis antigen protein-coding gene gene with protein product Approved 6p12.1 06p12.1 Peptidase family C1 2109 2001-04-05 2015-09-08 27283 ENSG00000137251 OTTHUMG00000014893 uc003pcj.3 AB022277 NM_014464 CCDS4955 Q9UJW2 10652240 MGI:1349477 RGD:1359482 606749 C01.973 HGNC:14599 "ENST00000259782.9|NM_014464.4" +HGNC:40691 TINAG-AS1 TINAG antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 Antisense RNAs 1987 2020-03-30 2020-03-30 107986605 ENSG00000228231 OTTHUMG00000014892 XR_001744174 +HGNC:19168 TINAGL1 tubulointerstitial nephritis antigen like 1 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "P3ECSL|LIECG3|ARG1|TINAGRP" androgen regulated gene 1 LCN7 "lipocalin 7|TINAG-like 1" Peptidase family C1 2109 2002-08-29 2005-08-18 2016-03-11 2019-06-06 64129 ENSG00000142910 OTTHUMG00000003884 uc001bta.4 AB050716 NM_022164 "CCDS343|CCDS55586|CCDS72745" Q9GZM7 "11170462|11377975" MGI:2137617 RGD:70956 616064 C01.975 HGNC:19168 "ENST00000271064.12|NM_022164.3" +HGNC:14607 TINCR TINCR ubiquitin domain containing protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLJ90734|NCRNA00036|LINC00036|onco-lncRNA-16" "non-protein coding RNA 36|long intergenic non-protein coding RNA 36|terminal differentiation-induced ncRNA" PLAC2 "placenta-specific 2|placenta-specific 2 (non-protein coding)|tissue differentiation-inducing non-protein coding RNA" 2002-04-03 2012-12-05 2017-07-20 2021-11-24 257000 ENSG00000223573 OTTHUMG00000150390 uc002mcc.7 BG354568 NM_001396408 A0A2R8Y7D0 "23201690|24019000|32012357" MGI:5012404 RGD:9685200 615241 tincr TINCR HGNC:14607 +HGNC:11824 TINF2 TERF1 interacting nuclear factor 2 protein-coding gene gene with protein product Approved 14q12 14q12 TIN2 TERF1 (TRF1)-interacting nuclear factor 2 Shelterin complex 1334 1999-11-19 2016-05-04 2021-04-13 26277 ENSG00000092330 OTTHUMG00000171849 uc001woa.5 AF195512 NM_001099274 "CCDS41936|CCDS86378|CCDS41937" Q9BSI4 "10581025|18252230" MGI:107246 RGD:1359192 LRG_342|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_342.xml 604319 140050 HGNC:11824 "ENST00000267415.12|NM_001099274.3" HGNC:11824 +HGNC:23696 TIPARP TCDD inducible poly(ADP-ribose) polymerase protein-coding gene gene with protein product Approved 3q25.31 03q25.31 "DKFZP434J214|DKFZp686N0351|DDF1|PARP7|PARP-7|PARP-1|pART14|RM1|ARTD14" TCDD-inducible poly(ADP-ribose) polymerase Poly(ADP-ribose) polymerases 684 2003-12-02 2016-04-04 2020-01-02 25976 ENSG00000163659 OTTHUMG00000158646 uc003fav.4 BX537965 NM_015508 CCDS3177 Q7Z3E1 12851707 MGI:2159210 RGD:1306171 612480 HGNC:23696 "ENST00000295924.12|NM_015508.5" +HGNC:41028 TIPARP-AS1 TIPARP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.31 03q25.31 TIPARP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100287227 ENSG00000243926 OTTHUMG00000158643 uc062pgr.1 NR_027954 TIPARP-AS1 HGNC:41028 +HGNC:30750 TIPIN TIMELESS interacting protein protein-coding gene gene with protein product Approved 15q22.31 15q22.31 FLJ20516 CSM3 homolog (S. cerevisiae) Small nucleolar RNA protein coding host genes 1835 2006-08-08 2006-08-08 2014-11-19 54962 ENSG00000075131 OTTHUMG00000133188 uc002apr.3 BK001386 NM_017858 CCDS10215 Q9BVW5 "12875843|17102137" MGI:1921571 RGD:1564084 610716 HGNC:30750 "ENST00000261881.9|NM_017858.3" +HGNC:54963 TIPINP1 TIPIN pseudogene 1 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 100125392 ENSG00000235416 NG_006903 +HGNC:30231 TIPRL TOR signaling pathway regulator protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "MGC3794|dJ69E11.3|TIP41|TIPRL1" TIP41, TOR signaling pathway regulator-like (S. cerevisiae) Protein phosphatase 2 modulatory subunits 1265 2005-05-27 2014-03-07 2016-10-05 261726 ENSG00000143155 OTTHUMG00000034646 uc001gfg.5 AB097034 NM_152902 "CCDS1270|CCDS30935" O75663 12761501 MGI:1915087 RGD:1310442 611807 HGNC:30231 "ENST00000367833.7|NM_152902.5" +HGNC:17192 TIRAP TIR domain containing adaptor protein protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "Mal|wyatt" MyD88 adapter-like Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein TIR domain containing 1296 2003-06-05 2016-06-17 2016-06-17 114609 ENSG00000150455 OTTHUMG00000140373 uc001qdo.1 AF378129 NM_148910 "CCDS8472|CCDS41731" P58753 "11526399|11544529" MGI:2152213 RGD:1595496 606252 HGNC:17192 "ENST00000392679.6|NM_001318777.2" +HGNC:56069 TIRAP-AS1 TIRAP antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q24.2 11q24.2 Antisense RNAs 1987 2021-12-13 2021-12-13 105369557 ENSG00000255062 XR_948146 +HGNC:17949 TJAP1 tight junction associated protein 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 PILT TJP4 "tight junction protein 4 (peripheral)|tight junction associated protein 1 (peripheral)" 2002-01-10 2005-07-05 2016-03-11 2016-03-11 93643 ENSG00000137221 OTTHUMG00000014736 uc011dvh.1 AK024269 NM_080604 "CCDS4898|CCDS55004" Q5JTD0 11602598 MGI:1921344 RGD:1308708 612658 HGNC:17949 +HGNC:55129 TJAP1P1 TJAP1 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 2020-07-02 2020-07-02 392539 ENSG00000234592 NG_011687 +HGNC:11827 TJP1 tight junction protein 1 protein-coding gene gene with protein product Approved 15q13.1 15q13.1 "ZO-1|MGC133289|DKFZp686M05161" "zona occludens 1|tight junction protein ZO-1" "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1995-04-26 2012-07-12 2016-10-05 7082 ENSG00000104067 OTTHUMG00000137397 uc001zcr.4 NM_003257 "CCDS45199|CCDS73702|CCDS81858|CCDS42007" Q07157 8825647 MGI:98759 RGD:1306305 601009 HGNC:11827 "ENST00000614355.5|NM_001330239.4" HGNC:11827 +HGNC:14167 TJP1P1 tight junction protein 1 pseudogene 1 pseudogene pseudogene Approved 16p13.3 16p13.3 TJP1P tight junction protein 1 pseudogene 2000-12-21 2016-02-17 2016-02-17 2016-02-17 64730 NG_032180 HGNC:14167 +HGNC:11828 TJP2 tight junction protein 2 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "ZO-2|X104|ZO2" "Friedreich ataxia region gene X104 (tight junction protein ZO-2)|zona occludens 2" DFNA51 deafness, autosomal dominant 51 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 1999-07-01 2012-07-12 2021-04-13 9414 ENSG00000119139 OTTHUMG00000019978 uc011lrv.2 L27476 NM_201629 "CCDS55316|CCDS55315|CCDS55317|CCDS6627|CCDS6628" Q9UDY2 "7951235|20602916" MGI:1341872 RGD:619807 LRG_1201|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1201.xml 607709 242924 HGNC:11828 "ENST00000377245.9|NM_004817.4" HGNC:11828 +HGNC:11829 TJP3 tight junction protein 3 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ZO-3 zona occludens 3 "Membrane associated guanylate kinases|PDZ domain containing" "904|1220" 2000-02-16 2012-07-12 2019-08-20 27134 ENSG00000105289 OTTHUMG00000180872 uc010xhs.4 AC005954 NM_001267560 "CCDS59332|CCDS32873" O95049 MGI:1351650 RGD:1309247 612689 HGNC:11829 "ENST00000541714.7|NM_001267560.2" +HGNC:11830 TK1 thymidine kinase 1 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 cytosolic thymidine kinase thymidine kinase 1, soluble Deoxyribonucleoside kinases 1699 2001-06-22 2016-04-05 2019-01-15 7083 ENSG00000167900 OTTHUMG00000150674 uc002juw.3 NM_003258 "CCDS86643|CCDS86642|CCDS11754" P04183 MGI:98763 RGD:621014 188300 2.7.1.21 HGNC:11830 "ENST00000301634.12|NM_003258.5" +HGNC:11831 TK2 thymidine kinase 2 protein-coding gene gene with protein product Approved 16q21 16q21 SCA31 mitochondrial thymidine kinase thymidine kinase 2, mitochondrial Deoxyribonucleoside kinases 1699 2001-06-22 2019-01-15 2021-05-26 7084 ENSG00000166548 OTTHUMG00000137499 uc002eos.3 NM_001172643 "CCDS10805|CCDS61955|CCDS54018|CCDS54017|CCDS54016" O00142 MGI:1913266 RGD:1309279 188250 120120 2.7.1.21 HGNC:11831 "ENST00000544898.6|NM_004614.5" HGNC:11831 +HGNC:24552 TKFC triokinase and FMN cyclase protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "DKFZP586B1621|NET45" FAD-AMP lyase (cyclizing) DAK "dihydroxyacetone kinase 2 homolog (yeast)|dihydroxyacetone kinase 2 homolog (S. cerevisiae)|triokinase/FMN cyclase" 2005-10-07 2015-03-20 2016-01-18 2016-01-18 26007 ENSG00000149476 OTTHUMG00000168076 NM_015533 CCDS8003 Q3LXA3 24569995 MGI:2385084 RGD:1311026 615844 "2.7.1.28|4.6.1.15" HGNC:24552 "ENST00000394900.8|NM_015533.4" HGNC:24552 +HGNC:11834 TKT transketolase protein-coding gene gene with protein product Approved 3p21.1 03p21.1 Wernicke-Korsakoff syndrome 1992-06-10 2008-07-31 2016-10-05 7086 ENSG00000163931 OTTHUMG00000158192 uc003dgq.5 NM_001064 "CCDS2871|CCDS58834" P29401 1567394 MGI:105992 RGD:621036 606781 2.2.1.1 HGNC:11834 "ENST00000462138.6|NM_001064.4" HGNC:11834 +HGNC:11835 TKTL1 transketolase like 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "TKR|TKT2" 1998-09-25 2016-06-03 2016-06-03 8277 ENSG00000007350 OTTHUMG00000022707 uc004fkg.4 X91817 NM_012253 "CCDS35448|CCDS55541" P51854 8838793 MGI:1933244 RGD:1593490 300044 HGNC:11835 "ENST00000369915.8|NM_012253.4" +HGNC:25313 TKTL2 transketolase like 2 protein-coding gene gene with protein product Approved 4q32.2 04q32.2 "FLJ32975|DKFZP434L1717" similar to transketolase 2005-04-08 2016-06-03 2016-06-03 84076 ENSG00000151005 OTTHUMG00000161527 uc003iqp.5 BC028707 NM_032136 CCDS3805 Q9H0I9 11230166 MGI:1921669 RGD:1304767 HGNC:25313 "ENST00000280605.5|NM_032136.5" +HGNC:25177 TLCD1 TLC domain containing 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 calfacilitin TLC domain containing 1374 2005-12-20 2015-11-26 116238 ENSG00000160606 OTTHUMG00000132683 uc002hco.4 BC014072 NM_138463 "CCDS11242|CCDS54102" Q96CP7 "12151215|23673622" MGI:1915572 RGD:1359195 HGNC:25177 "ENST00000292090.8|NM_138463.4" +HGNC:33522 TLCD2 TLC domain containing 2 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 TLC domain containing 1374 2008-03-14 2014-11-19 727910 ENSG00000185561 OTTHUMG00000132477 uc021tnh.2 NM_001164407 CCDS45567 A6NGC4 16793762 MGI:1917141 RGD:1562631 HGNC:33522 "ENST00000330676.8|NM_001164407.2" +HGNC:29646 TLCD3A TLC domain containing 3A protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ22282|CT120" FAM57A family with sequence similarity 57 member A TLC domain containing 1374 2005-03-15 2019-05-02 2019-05-02 2020-04-01 79850 ENSG00000167695 OTTHUMG00000177491 uc002frp.4 AK025935 NM_024792 "CCDS82032|CCDS10996|CCDS82031" Q8TBR7 12270127 MGI:2151840 RGD:1307493 611627 HGNC:29646 "ENST00000308278.13|NM_024792.3" +HGNC:25295 TLCD3B TLC domain containing 3B protein-coding gene gene with protein product Approved 16p11.2 16p11.2 DKFZP434I2117 FAM57B "family with sequence similarity 57 member B|TLC domain ceramide synthase 3B|TLC domain 3B" TLC domain containing 1374 2005-03-15 2019-05-02 2019-06-13 2019-06-13 83723 ENSG00000149926 OTTHUMG00000132105 uc002dvt.4 AF370365 NM_031478 "CCDS10667|CCDS81967" Q71RH2 "11230166|23275342" MGI:1916202 RGD:1308215 615175 HGNC:25295 "ENST00000380495.9|NM_031478.6" HGNC:25295 +HGNC:26477 TLCD4 TLC domain containing 4 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 FLJ31842 TMEM56 transmembrane protein 56 TLC domain containing 1374 2005-07-19 2019-05-02 2019-05-02 2019-05-02 148534 ENSG00000152078 OTTHUMG00000010847 uc001drb.4 NM_152487 CCDS753 Q96MV1 MGI:1923195 RGD:1563041 HGNC:26477 "ENST00000370203.9|NM_152487.3" +HGNC:49388 TLCD4-RWDD3 TLCD4-RWDD3 readthrough other readthrough Approved 1p21.3 01p21.3 TMEM56-RWDD3 TMEM56-RWDD3 readthrough 2013-11-05 2019-05-02 2019-05-02 2019-05-02 100527978 ENSG00000271092 OTTHUMG00000184628 NM_001199691 MGI:1923195 HGNC:49388 +HGNC:28280 TLCD5 TLC domain containing 5 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 MGC17839 TMEM136 transmembrane protein 136 TLC domain containing 1374 2006-03-10 2019-05-02 2019-05-02 2020-04-01 219902 ENSG00000181264 OTTHUMG00000166142 uc001pxh.2 BC015232 NM_174926 "CCDS8432|CCDS55792|CCDS55793" Q6ZRR5 28553957 MGI:2685030 RGD:1565079 HGNC:28280 "ENST00000375095.3|NM_001198671.2" +HGNC:16112 TLDC2 TBC/LysM-associated domain containing 2 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ132F21.2 "hypothetical protein LOC140711|TLD domain containing 2" C20orf118 chromosome 20 open reading frame 118 TLDc domain containing 2055 2001-07-17 2013-03-14 2013-03-14 2013-03-14 140711 ENSG00000101342 OTTHUMG00000032400 uc002xgg.2 AL079335 NM_080628 CCDS33465 A0PJX2 MGI:2686178 RGD:1561343 HGNC:16112 "ENST00000217320.8|NM_080628.3" +HGNC:11837 TLE1 TLE family member 1, transcriptional corepressor protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "ESG1|GRG1|ESG|TLE-1" enhancer of split groucho 1 "transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 1" "WD repeat domain containing|Wnt enhanceosome complex|TLE family" "362|1677|1680" 1993-12-13 2018-11-15 2022-02-10 7088 ENSG00000196781 OTTHUMG00000021008 uc004aly.4 NM_005077 CCDS6661 Q04724 "8365415|8808280" MGI:104636 RGD:1309237 600189 HGNC:11837 "ENST00000376499.8|NM_005077.5" HGNC:11837 +HGNC:55701 TLE1-DT TLE1 divergent transcript non-coding RNA RNA, long non-coding Approved 9q21.32 09q21.32 Divergent transcripts 1990 2021-07-05 2021-07-05 101927502 ENSG00000233926 NR_109772 +HGNC:39438 TLE1P1 TLE family member 1 pseudogene 1 pseudogene pseudogene Approved Xq12 Xq12 transducin like enhancer of split 1 pseudogene 1 2011-01-04 2018-11-15 2018-11-15 645381 ENSG00000228158 OTTHUMG00000021718 NG_022665 PGOHUM00000241815 HGNC:39438 +HGNC:11838 TLE2 TLE family member 2, transcriptional corepressor protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ESG2|GRG2|ESG|FLJ41188" enhancer of split groucho 2 "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 2" "WD repeat domain containing|Wnt enhanceosome complex|TLE family" "362|1677|1680" 1993-12-20 2018-11-15 2018-11-15 7089 ENSG00000065717 OTTHUMG00000180613 uc002lww.3 M99436 NM_003260 "CCDS45912|CCDS74255|CCDS45913|CCDS45911" Q04725 8808280 MGI:104635 RGD:1306665 601041 HGNC:11838 "ENST00000262953.11|NM_003260.5" +HGNC:11839 TLE3 TLE family member 3, transcriptional corepressor protein-coding gene gene with protein product Approved 15q23 15q23 "ESG|ESG3|KIAA1547|HsT18976|GRG3" "transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 3" "WD repeat domain containing|Wnt enhanceosome complex|TLE family|MicroRNA protein coding host genes" "362|1677|1680|1691" 1993-12-13 2018-11-15 2018-11-15 7090 ENSG00000140332 OTTHUMG00000172121 uc002asm.4 M99438 NM_005078 "CCDS61689|CCDS45294|CCDS61692|CCDS61691|CCDS45293|CCDS58375|CCDS73747" Q04726 8365415 MGI:104634 RGD:620292 600190 HGNC:11839 "ENST00000451782.7|NM_001105192.3" +HGNC:11840 TLE4 TLE family member 4, transcriptional corepressor protein-coding gene gene with protein product Approved 9q21.31 09q21.31 "E(spl)|ESG|GRG4" "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 4" "WD repeat domain containing|Wnt enhanceosome complex|TLE family" "362|1677|1680" 1993-12-20 2018-11-15 2018-11-19 7091 ENSG00000106829 OTTHUMG00000020072 uc004alc.5 M99439 NM_001282748 "CCDS65069|CCDS75851|CCDS43837|CCDS65070" Q04727 8365415 MGI:104633 RGD:3868 605132 HGNC:11840 "ENST00000376552.8|NM_007005.6" +HGNC:307 TLE5 TLE family member 5, transcriptional modulator protein-coding gene gene with protein product Approved 19p13.3 19p13.3 GRG5 AES amino-terminal enhancer of split TLE family 1680 1993-12-13 2019-02-18 2019-02-18 2020-09-17 166 ENSG00000104964 OTTHUMG00000180567 uc002lwy.2 AK094591 NM_198969 "CCDS12101|CCDS12102" Q08117 8365415 MGI:95806 RGD:2731 600188 HGNC:307 "ENST00000327141.9|NM_001130.6" +HGNC:30788 TLE6 TLE family member 6, subcortical maternal complex member protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FLJ14009|GRG6" "transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)|transducin like enhancer of split 6" "WD repeat domain containing|TLE family|Subcortical maternal complex" "362|1680|1684" 2005-01-11 2018-11-15 2021-05-26 79816 ENSG00000104953 OTTHUMG00000156793 uc002lwu.3 AK024071 NM_024760 "CCDS12100|CCDS45910" Q9H808 "11486032|26537248" MGI:2149593 RGD:1561530 612399 HGNC:30788 "ENST00000246112.9|NM_001143986.2" HGNC:30788 +HGNC:53648 TLE7 TLE family member 7 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 transducin like enhancer of split family member 7 "WD repeat domain containing|TLE family" "362|1680" 2017-08-11 2018-11-15 2018-12-12 102723796 ENSG00000260734 OTTHUMG00000176796 NM_001367365 A0A1W2PR48 MGI:5439433 RGD:6498598 HGNC:53648 "ENST00000561754.4|NM_001367365.2" +HGNC:11841 TLK1 tousled like kinase 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "KIAA0137|PKU-BETA" tousled-like kinase 1 2000-01-07 2015-11-19 2015-11-19 9874 ENSG00000198586 OTTHUMG00000132243 uc002ugn.3 AB004885 NM_012290 "CCDS2241|CCDS46448|CCDS46447" Q9UKI8 "9427565|12660173" MGI:2441683 RGD:1310370 608438 objectId:2242 HGNC:11841 "ENST00000431350.7|NM_012290.5" +HGNC:28608 TLK1P1 tousled like kinase 1 pseudogene 1 pseudogene pseudogene Approved 9q33.2 09q33.2 TLK1ps TLK1P "tousled-like kinase 1 pseudogene|tousled-like kinase 1 pseudogene 1" 2005-05-06 2010-04-19 2015-11-19 2020-04-20 100129793 ENSG00000226783 OTTHUMG00000020623 NG_021465 PGOHUM00000236766 HGNC:28608 +HGNC:11842 TLK2 tousled like kinase 2 protein-coding gene gene with protein product Approved 17q23.2 17q23.2 "PKU-ALPHA|MGC44450" tousled-like kinase 2 2000-01-07 2015-11-19 2021-05-26 11011 ENSG00000146872 OTTHUMG00000179176 uc002izz.5 AB004884 NM_006852 "CCDS45753|CCDS82182|CCDS62283|CCDS11633" Q86UE8 "9427565|10523312" MGI:1346023 RGD:1310907 608439 471226 objectId:2243 2.7.11.1 HGNC:11842 "ENST00000346027.10|NM_006852.6" HGNC:11842 +HGNC:18048 TLK2P1 tousled like kinase 2 pseudogene 1 pseudogene pseudogene Approved 17q12 17q12 TLK2ps1 tousled-like kinase 2 pseudogene 1 2005-05-06 2015-11-19 2017-10-25 646202 ENSG00000226049 OTTHUMG00000166422 NG_006102 PGOHUM00000294061 HGNC:18048 +HGNC:22227 TLK2P2 tousled like kinase 2 pseudogene 2 pseudogene pseudogene Approved 10p11.21 10p11.21 TLK2ps2 tousled-like kinase 2 pseudogene 2 2005-05-06 2015-11-19 2016-08-16 553121 ENSG00000228828 OTTHUMG00000017977 NG_006100 PGOHUM00000289798 HGNC:22227 +HGNC:11843 TLL1 tolloid like 1 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 Astacins 894 1997-10-16 2015-11-13 2021-05-26 7092 ENSG00000038295 OTTHUMG00000161112 uc003irh.3 AF282732 NM_001204760 "CCDS56342|CCDS3811" O43897 10516436 MGI:106923 RGD:1306120 606742 237464 M12.016 HGNC:11843 "ENST00000061240.7|NM_012464.5" HGNC:11843 +HGNC:11844 TLL2 tolloid like 2 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 Astacins 894 1997-10-16 2015-11-13 2015-11-13 7093 ENSG00000095587 OTTHUMG00000018833 uc001kml.3 AF059516 NM_012465 CCDS7449 Q9Y6L7 10516436 MGI:1346044 RGD:1559756 606743 M12.018 HGNC:11844 "ENST00000357947.4|NM_012465.4" +HGNC:11845 TLN1 talin 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 ILWEQ TLN "FERM domain containing|MicroRNA protein coding host genes" "1293|1691" 1996-10-31 2016-10-05 7094 ENSG00000137076 OTTHUMG00000019874 uc003zxt.3 AB028950 NM_006289 CCDS35009 Q9Y490 "7635475|10610730" MGI:1099832 RGD:1306247 186745 471228 HGNC:11845 "ENST00000314888.10|NM_006289.4" +HGNC:15447 TLN2 talin 2 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "KIAA0320|ILWEQ" "FERM domain containing|MicroRNA protein coding host genes" "1293|1691" 2001-04-25 2015-09-08 83660 ENSG00000171914 OTTHUMG00000133679 uc002alb.5 AB002318 NM_001394547 CCDS32261 Q9Y4G6 "9205841|11527381" MGI:1917799 RGD:1565416 607349 HGNC:15447 "ENST00000636159.2|NM_015059.3" HGNC:15447 +HGNC:13519 TLNRD1 talin rod domain containing 1 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 MGC99595 MESDC1 mesoderm development candidate 1 2000-09-25 2017-05-16 2017-05-16 2017-05-16 59274 ENSG00000140406 OTTHUMG00000144185 uc002bfz.4 AY007810 NM_022566 CCDS10316 Q9H1K6 "11247670|20610383" MGI:1891420 RGD:1311666 615466 HGNC:13519 "ENST00000267984.4|NM_022566.3" +HGNC:11847 TLR1 toll like receptor 1 protein-coding gene gene with protein product Approved 4p14 04p14 "rsc786|KIAA0012|CD281" toll-like receptor 1 "CD molecules|Toll like receptors" "471|948" 1998-06-25 2016-01-21 2016-10-25 7096 ENSG00000174125 OTTHUMG00000160413 uc003gtl.4 U88540 NM_003263 CCDS33973 Q15399 "9435236|7584026" MGI:1341295 RGD:1309975 601194 objectId:1751 CD281 HGNC:11847 "ENST00000308979.7|NM_003263.4" +HGNC:11848 TLR2 toll like receptor 2 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "TIL4|CD282" toll-like receptor 2 "CD molecules|Toll like receptors" "471|948" 1998-06-25 2016-01-21 2016-10-25 7097 ENSG00000137462 OTTHUMG00000161525 uc063aif.1 U88878 NM_001318787 CCDS3784 O60603 9435236 MGI:1346060 RGD:735138 603028 objectId:1752 CD282 HGNC:11848 "ENST00000642700.2|NM_001318789.2" +HGNC:11849 TLR3 toll like receptor 3 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 CD283 toll-like receptor 3 "CD molecules|Toll like receptors" "471|948" 1998-06-25 2016-01-21 2021-05-26 7098 ENSG00000164342 OTTHUMG00000160345 uc003iyq.4 U88879 NM_003265 CCDS3846 O15455 9435236 MGI:2156367 RGD:735171 "TLR3base: Mutation registry for Influenza-associated encephalopathy|http://structure.bmc.lu.se/idbase/TLR3base/|LRG_117|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_117.xml" 603029 167875 objectId:1753 CD283 HGNC:11849 "ENST00000296795.8|NM_003265.3" +HGNC:11850 TLR4 toll like receptor 4 protein-coding gene gene with protein product Approved 9q33.1 09q33.1 "hToll|CD284|TLR-4|ARMD10" toll-like receptor 4 "CD molecules|Toll like receptors" "471|948" 1998-06-25 2016-01-21 2021-04-13 7099 ENSG00000136869 OTTHUMG00000021046 uc004bjz.5 U88880 NM_138554 CCDS6818 O00206 "9435236|9237759" MGI:96824 RGD:3870 LRG_320|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_320.xml 603030 353890 objectId:1754 CD284 HGNC:11850 "ENST00000355622.8|NM_138554.5" +HGNC:11851 TLR5 toll like receptor 5 protein-coding gene gene with protein product Approved 1q41 01q41 "TIL3|FLJ10052|MGC126430|MGC126431" Toll/interleukin-1 receptor-like protein 3 SLEB1 "systemic lupus erythematosus susceptibility 1|toll-like receptor 5" Toll like receptors 948 1998-06-25 2016-01-21 2016-10-05 7100 ENSG00000187554 OTTHUMG00000037937 uc001hnw.3 NM_003268 CCDS31033 O60602 "9435236|16027372" MGI:1858171 RGD:631351 603031 objectId:1755 HGNC:11851 "ENST00000642603.2|NM_003268.6" +HGNC:16711 TLR6 toll like receptor 6 protein-coding gene gene with protein product Approved 4p14 04p14 CD286 toll-like receptor 6 "CD molecules|Toll like receptors" "471|948" 2001-10-01 2016-01-21 2016-10-05 10333 ENSG00000174130 OTTHUMG00000128579 uc010ifg.3 NM_001394553 CCDS3446 Q9Y2C9 10231569 MGI:1341296 RGD:1303030 605403 objectId:1756 CD286 HGNC:16711 +HGNC:15631 TLR7 toll like receptor 7 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 toll-like receptor 7 Toll like receptors 948 2001-04-27 2016-01-21 2021-09-09 51284 ENSG00000196664 OTTHUMG00000021137 uc004cvc.4 AF240467 NM_016562 CCDS14151 Q9NYK1 11022119 MGI:2176882 RGD:1563357 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TLR7 300365 objectId:1757 HGNC:15631 "ENST00000380659.4|NM_016562.4" +HGNC:15632 TLR8 toll like receptor 8 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "CD288|hTLR8" toll-like receptor 8 "CD molecules|Toll like receptors" "471|948" 2001-04-27 2016-01-21 2021-09-08 51311 ENSG00000101916 OTTHUMG00000021145 uc004cvd.4 AF246971 NM_016610 "CCDS14152|CCDS14153" Q9NR97 11022119 MGI:2176887 RGD:1590327 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TLR8 300366 objectId:1758 CD288 HGNC:15632 "ENST00000218032.7|NM_138636.5" +HGNC:40720 TLR8-AS1 TLR8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 TLR8 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 349408 ENSG00000233338 OTTHUMG00000021142 uc064xzx.1 NR_030727 TLR8-AS1 HGNC:40720 +HGNC:15633 TLR9 toll like receptor 9 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 CD289 toll-like receptor 9 "CD molecules|Toll like receptors|My-T-BRC complex" "471|948|1632" 2001-04-27 2016-01-21 2016-10-05 54106 ENSG00000239732 OTTHUMG00000158106 uc003dda.2 AF259262 NM_017442 CCDS2848 Q9NR96 11022119 MGI:1932389 RGD:631352 605474 objectId:1759 CD289 HGNC:15633 "ENST00000360658.3|NM_017442.4" +HGNC:15634 TLR10 toll like receptor 10 protein-coding gene gene with protein product Approved 4p14 04p14 CD290 toll-like receptor 10 "CD molecules|Toll like receptors" "471|948" 2001-04-27 2016-01-21 2016-01-21 81793 ENSG00000174123 OTTHUMG00000128578 uc021xnl.1 AF296673 NM_001017388 CCDS3445 Q9BXR5 11267672 RGD:1311569 606270 objectId:1760 CD290 HGNC:15634 "ENST00000308973.9|NM_030956.4" +HGNC:31754 TLR12P toll like receptor 12, pseudogene pseudogene pseudogene Approved 1p35.1 01p35.1 toll-like receptor 12, pseudogene 2010-03-12 2016-01-21 2020-08-14 100131451 ENSG00000234512 OTTHUMG00000154094 NG_016733 14993594 MGI:3045221 HGNC:31754 +HGNC:5056 TLX1 T cell leukemia homeobox 1 protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)|homeo box 11 (T-cell lymphoma 3-associated breakpoint)" "TCL3|HOX11" "homeo box 11 (T-cell lymphoma 3-associated breakpoint)|T-cell leukemia, homeobox 1|T-cell leukemia homeobox 1" NKL subclass homeoboxes and pseudogenes 519 1991-03-18 2002-05-31 2017-12-06 2017-12-06 3195 ENSG00000107807 OTTHUMG00000019341 uc001ksw.4 M62626 NM_005521 "CCDS55725|CCDS7510" P31314 "1676542|1973146" MGI:98769 RGD:1563655 TLX1 186770 8520 330912 HGNC:5056 "ENST00000370196.11|NM_005521.4" +HGNC:37183 TLX1NB TLX1 neighbor non-coding RNA RNA, long non-coding Approved 10q24.31 10q24.31 "TD1|TDI|APT-B7" TLX1 divergent Long non-coding RNAs with non-systematic symbols 1992 2009-08-14 2017-08-03 100038246 ENSG00000236311 OTTHUMG00000018925 uc001ksv.5 BC019674 NR_130722 P0CAT3 17303350 612734 TLX1NB HGNC:37183 +HGNC:5057 TLX2 T cell leukemia homeobox 2 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "Enx|NCX" HOX11L1 "homeo box 11-like 1|T-cell leukemia, homeobox 2|T-cell leukemia homeobox 2" NKL subclass homeoboxes and pseudogenes 519 1998-08-04 2002-05-31 2017-12-06 2020-05-04 3196 ENSG00000115297 OTTHUMG00000129960 uc002smb.3 AJ002607 NM_016170 CCDS1947 O43763 10343123 MGI:1350935 RGD:1595506 604240 8521 HGNC:5057 "ENST00000233638.8|NM_016170.5" +HGNC:13532 TLX3 T cell leukemia homeobox 3 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 RNX HOX11L2 "homeo box 11-like 2|T-cell leukemia, homeobox 3|T-cell leukemia homeobox 3" NKL subclass homeoboxes and pseudogenes 519 2001-12-17 2002-05-31 2017-12-06 2017-12-06 30012 ENSG00000164438 OTTHUMG00000163207 uc003mbf.3 AJ223798 NM_021025 CCDS34288 O43711 "11435718|11435716" MGI:1351209 RGD:1564190 TLX3 604640 8522 330918 HGNC:13532 "ENST00000296921.6|NM_021025.4" +HGNC:24142 TM2D1 TM2 domain containing 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 BBP Beta-amyloid peptide binding protein 2005-05-19 2017-11-23 83941 ENSG00000162604 OTTHUMG00000008466 uc057hca.1 AF353990 NM_032027 CCDS65554 Q9BX74 11278849 MGI:2137022 RGD:1305442 610080 HGNC:24142 "ENST00000606498.5|NM_032027.3" +HGNC:24127 TM2D2 TM2 domain containing 2 protein-coding gene gene with protein product Approved 8p11.22 08p11.22 BLP1 2005-05-19 2017-11-23 83877 ENSG00000169490 OTTHUMG00000164098 uc003xmk.4 AF353991 NM_031940 "CCDS6111|CCDS43733" Q9BX73 11278849 MGI:1916992 RGD:1306769 610081 471230 HGNC:24127 "ENST00000456397.7|NM_078473.3" +HGNC:24128 TM2D3 TM2 domain containing 3 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "BLP2|FLJ22604" almondex homolog 2005-05-19 2017-11-23 80213 ENSG00000184277 OTTHUMG00000149872 uc002bxi.4 AK094955 NM_078474 "CCDS10392|CCDS10393|CCDS76795|CCDS76796" Q9BRN9 27764101 MGI:1915884 RGD:1564929 610014 HGNC:24128 "ENST00000333202.8|NM_078474.3" +HGNC:11853 TM4SF1 transmembrane 4 L six family member 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 L6 M3S1 transmembrane 4 superfamily member 1 1993-12-08 2005-03-21 2016-10-05 4071 ENSG00000169908 OTTHUMG00000159597 uc003exb.2 M90657 NM_014220 CCDS3143 P30408 1565644 MGI:104678 RGD:1309652 191155 HGNC:11853 "ENST00000305366.8|NM_014220.3" +HGNC:40587 TM4SF1-AS1 TM4SF1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 TM4SF1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2016-12-13 100874091 ENSG00000240541 OTTHUMG00000159596 uc032sfs.2 NR_046650 TM4SF1-AS1 HGNC:40587 +HGNC:11856 TM4SF4 transmembrane 4 L six family member 4 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 il-TMP transmembrane 4 superfamily member 4 1997-10-16 2005-03-21 2016-10-05 7104 ENSG00000169903 OTTHUMG00000159619 uc003exd.3 NM_004617 CCDS46932 P48230 7665614 MGI:2385173 RGD:621784 606567 HGNC:11856 "ENST00000305354.5|NM_004617.4" +HGNC:11857 TM4SF5 transmembrane 4 L six family member 5 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 transmembrane 4 superfamily member 5 1999-01-21 2005-03-21 2016-10-05 9032 ENSG00000142484 OTTHUMG00000090776 uc002fyw.1 AF027204 NM_003963 CCDS11054 O14894 "9479038|26404468" MGI:1922854 RGD:1308709 604657 HGNC:11857 "ENST00000270560.4|NM_003963.3" +HGNC:25181 TM4SF18 transmembrane 4 L six family member 18 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 L6D 2005-03-21 2014-11-19 116441 ENSG00000163762 OTTHUMG00000159582 uc003exa.3 BC014339 NM_138786 CCDS3142 Q96CE8 10975581 HGNC:25181 "ENST00000296059.7|NM_138786.4" +HGNC:25167 TM4SF19 transmembrane 4 L six family member 19 protein-coding gene gene with protein product Approved 3q29 03q29 2005-03-21 2022-01-10 116211 ENSG00000145107 OTTHUMG00000155675 uc003fwl.3 BC013113 NM_138461 "CCDS3316|CCDS56299" Q96DZ7 33059922 MGI:3645933 RGD:1560486 HGNC:25167 "ENST00000273695.4|NM_138461.4" +HGNC:41085 TM4SF19-AS1 TM4SF19 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 TM4SF19 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2021-06-30 100874214 ENSG00000235897 OTTHUMG00000155669 uc003fwk.2 NR_046724 TM4SF19-AS1 HGNC:41085 +HGNC:49190 TM4SF19-DYNLT2B TM4SF19-DYNLT2B readthrough (NMD candidate) other readthrough Approved 3q29 03q29 TM4SF19-TCTEX1D2 TM4SF19-TCTEX1D2 readthrough (NMD candidate) 2013-09-25 2020-08-27 2020-08-27 2020-08-27 100534611 ENSG00000273331 OTTHUMG00000186464 NR_037950 HGNC:49190 +HGNC:26230 TM4SF20 transmembrane 4 L six family member 20 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "FLJ22800|TCCE518" 2005-03-21 2014-11-19 79853 ENSG00000168955 OTTHUMG00000133187 uc002vpb.3 AK026453 NM_024795 CCDS2466 Q53R12 12975309 MGI:1913511 RGD:1588633 615404 HGNC:26230 "ENST00000304568.4|NM_024795.4" HGNC:26230 +HGNC:11860 TM6SF1 transmembrane 6 superfamily member 1 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 2000-05-02 2016-10-05 53346 ENSG00000136404 OTTHUMG00000147365 uc002bjp.4 AF255922 NM_023003 "CCDS10323|CCDS81915|CCDS45338" Q9BZW5 11124529 MGI:1933209 RGD:1307978 606562 HGNC:11860 "ENST00000322019.14|NM_023003.5" +HGNC:11861 TM6SF2 transmembrane 6 superfamily member 2 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 Lpr4 2000-05-02 2016-01-15 53345 ENSG00000213996 OTTHUMG00000182222 uc002nmd.2 AF255923 NM_203510 CCDS42528 Q9BZW4 11124529 MGI:1933210 RGD:1597457 606563 HGNC:11861 "ENST00000389363.5|NM_001001524.3" +HGNC:11863 TM7SF2 transmembrane 7 superfamily member 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ANG1|DHCR14A|NET47" delta(14)-sterol reductase 1997-11-05 2014-11-18 7108 ENSG00000149809 OTTHUMG00000165603 uc001oct.5 BC012857 NM_003273 "CCDS41669|CCDS60846" O76062 "9615229|9286704" MGI:1920416 RGD:1311205 603414 1.3.1.70 HGNC:11863 "ENST00000279263.14|NM_003273.6" +HGNC:23049 TM7SF3 transmembrane 7 superfamily member 3 protein-coding gene gene with protein product Approved 12p11.23 12p11.23 2003-08-27 2016-10-05 51768 ENSG00000064115 OTTHUMG00000169243 uc010sjl.4 AB032470 NM_016551 CCDS8710 Q9NS93 10828615 MGI:1914873 RGD:1306752 605181 HGNC:23049 "ENST00000343028.9|NM_016551.3" +HGNC:11864 TM9SF1 transmembrane 9 superfamily member 1 protein-coding gene gene with protein product Approved 14q12 14q12 "MP70|HMP70" Transmembrane 9 superfamily members 1239 1999-12-09 2016-10-05 10548 ENSG00000100926 OTTHUMG00000029322 uc001wnb.3 U94831 NM_006405 "CCDS41934|CCDS9617|CCDS73623" O15321 9332367 MGI:1921390 RGD:1307085 618965 HGNC:11864 "ENST00000261789.9|NM_006405.7" +HGNC:11865 TM9SF2 transmembrane 9 superfamily member 2 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 P76 Transmembrane 9 superfamily members 1239 1999-12-15 2021-06-22 9375 ENSG00000125304 OTTHUMG00000017272 uc001voj.3 U81006 NM_004800 CCDS9493 Q99805 9729438 MGI:1915309 RGD:1359230 604678 HGNC:11865 "ENST00000376387.5|NM_004800.3" +HGNC:21529 TM9SF3 transmembrane 9 superfamily member 3 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 SMBP Transmembrane 9 superfamily members 1239 2006-03-22 2016-10-05 56889 ENSG00000077147 OTTHUMG00000018834 uc001kmm.5 "AF160213|AF269150" NM_020123 CCDS7450 Q9HD45 11595169 MGI:1914262 RGD:1564625 616872 HGNC:21529 "ENST00000371142.9|NM_020123.4" +HGNC:30797 TM9SF4 transmembrane 9 superfamily member 4 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "KIAA0255|dJ836N17.2" Transmembrane 9 superfamily members 1239 2004-04-19 2016-03-24 2016-04-12 9777 ENSG00000101337 OTTHUMG00000032206 uc002wxj.2 BC021107 NM_014742 "CCDS13196|CCDS86943" Q92544 "9039502|25999474|25659576" MGI:2139220 RGD:1307768 617727 HGNC:30797 "ENST00000398022.7|NM_014742.4" HGNC:30797 +HGNC:55623 TM9SF5P transmembrane 9 superfamily member 5, pseudogene pseudogene pseudogene Approved Xq26.3 Xq26.3 2021-06-23 2021-06-23 100420958 ENSG00000234062 NG_026893 MGI:2685210 PGOHUM00000305355 +HGNC:26932 TMA7 translation machinery associated 7 homolog protein-coding gene gene with protein product Approved 3p21.31 03p21.31 HSPC016 CCDC72 "coiled-coil domain containing 72|translation machinery associated 7 homolog (S. cerevisiae)" 2006-02-10 2012-06-07 2015-09-25 2015-09-25 51372 ENSG00000232112 OTTHUMG00000156588 uc003cte.2 AF077202 NM_015933 CCDS46823 Q9Y2S6 "11042152|15740594" MGI:1913417 RGD:1584795 615808 HGNC:26932 "ENST00000438607.2|NM_015933.6" +HGNC:25638 TMA16 translation machinery associated 16 homolog protein-coding gene gene with protein product Approved 4q32.2 04q32.2 FLJ11184 C4orf43 "chromosome 4 open reading frame 43|translation machinery associated 16 homolog (S. cerevisiae)" 2008-06-19 2012-03-02 2015-09-25 2022-01-10 55319 ENSG00000198498 OTTHUMG00000161528 uc003iqq.5 NM_018352 CCDS43278 Q96EY4 32669547 MGI:1913532 RGD:1305222 HGNC:25638 "ENST00000358572.10|NM_018352.3" +HGNC:43780 TMA16P1 translation machinery associated 16 homolog pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 2012-03-02 2012-03-02 100101405 ENSG00000255265 OTTHUMG00000167431 NG_006426 PGOHUM00000242305 HGNC:43780 +HGNC:43781 TMA16P2 translation machinery associated 16 homolog pseudogene 2 pseudogene pseudogene Approved 1p34.1 01p34.1 2012-03-02 2012-03-02 100101407 ENSG00000232467 OTTHUMG00000008005 NG_006427 PGOHUM00000244004 HGNC:43781 +HGNC:23410 TMBIM1 transmembrane BAX inhibitor motif containing 1 protein-coding gene gene with protein product Approved 2q35 02q35 "PP1201|RECS1|LFG3" Transmembrane BAX inhibitor motif containing 1215 2005-08-22 2019-03-19 64114 ENSG00000135926 OTTHUMG00000133105 uc002vhp.2 BN000408 NM_022152 CCDS2412 Q969X1 28481357 MGI:1916910 RGD:1359409 610364 HGNC:23410 "ENST00000258412.8|NM_022152.6" +HGNC:24257 TMBIM4 transmembrane BAX inhibitor motif containing 4 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 "CGI-119|S1R|ZPRO|LFG4|GAAP" Transmembrane BAX inhibitor motif containing 1215 2005-08-22 2014-11-19 51643 ENSG00000155957 OTTHUMG00000168973 uc001stc.5 AF113127 NM_016056 "CCDS61187|CCDS81710|CCDS41805" Q9HC24 "11042152|10810093" MGI:1915462 RGD:735173 616874 HGNC:24257 "ENST00000358230.8|NM_016056.4" +HGNC:11723 TMBIM6 transmembrane BAX inhibitor motif containing 6 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "BI-1|BAXI1" BAX inhibitor 1 TEGT testis enhanced gene transcript Transmembrane BAX inhibitor motif containing 1215 1994-08-30 2008-09-17 2008-09-17 2014-11-18 7009 ENSG00000139644 OTTHUMG00000169652 uc001rux.3 X75861 NM_003217 "CCDS44875|CCDS31797" P55061 "8530040|9660918" MGI:99682 RGD:3842 600748 HGNC:11723 "ENST00000267115.10|NM_003217.3" +HGNC:49212 TMBIM7P transmembrane BAX inhibitor motif containing 7, pseudogene pseudogene pseudogene Approved 7q21.2 07q21.2 Transmembrane BAX inhibitor motif containing 1215 2013-10-09 2020-04-20 105375396 ENSG00000230927 OTTHUMG00000155903 NR_145992 MGI:1922305 RGD:1306626 HGNC:49212 +HGNC:16513 TMC1 transmembrane channel like 1 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "DFNA36|DFNB7|DFNB11" transmembrane, cochlear expressed, 1 Transmembrane channel like family 1135 2001-10-08 2015-11-12 2021-05-26 117531 ENSG00000165091 OTTHUMG00000020014 uc004aiz.1 AF417578 NM_138691 CCDS6643 Q8TDI8 "11850618|11850623" MGI:2151016 RGD:1308682 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=TMC1" 606706 120130 HGNC:16513 "ENST00000297784.10|NM_138691.3" HGNC:16513 +HGNC:16527 TMC2 transmembrane channel like 2 protein-coding gene gene with protein product Approved 20p13 20p13 dJ686C3.3 C20orf145 transmembrane, cochlear expressed, 2 Transmembrane channel like family 1135 2001-10-08 2015-11-12 2015-11-12 117532 ENSG00000149488 OTTHUMG00000031698 uc002wgf.1 AF417580 NM_080751 CCDS13029 Q8TDI7 "11850618|12906855" MGI:2151017 RGD:1310073 606707 HGNC:16527 "ENST00000358864.2|NM_080751.3" +HGNC:22995 TMC3 transmembrane channel like 3 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 Transmembrane channel like family 1135 2003-08-14 2015-11-12 2016-10-05 342125 ENSG00000188869 OTTHUMG00000172314 uc059mlt.1 AY263163 NM_181841 CCDS45324 Q7Z5M5 "12906855|12812529" MGI:2669033 RGD:1308063 617196 HGNC:22995 "ENST00000359440.6|NM_001080532.3" +HGNC:51424 TMC3-AS1 TMC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q25.1 15q25.1 Antisense RNAs 1987 2014-11-21 2014-11-21 101929655 ENSG00000259343 OTTHUMG00000172313 "HY112626|CB134362" NR_120365 TMC3-AS1 HGNC:51424 +HGNC:22998 TMC4 transmembrane channel like 4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Transmembrane channel like family 1135 2003-08-14 2015-11-12 2015-11-12 147798 ENSG00000167608 OTTHUMG00000066485 uc032icl.2 AY236492 NM_001145303 "CCDS46174|CCDS12882" Q7Z404 "12812529|12906855" MGI:2669035 RGD:1304811 617181 HGNC:22998 "ENST00000619895.5|NM_144686.4" +HGNC:22999 TMC5 transmembrane channel like 5 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 FLJ13593 Transmembrane channel like family 1135 2003-08-14 2015-11-12 2016-10-05 79838 ENSG00000103534 OTTHUMG00000131458 uc002dge.5 AY263164 NM_024780 "CCDS42126|CCDS76837|CCDS10577|CCDS45431" Q6UXY8 "12812529|12906855" MGI:1921674 RGD:1307037 617197 HGNC:22999 "ENST00000542583.7|NM_001261841.2" +HGNC:18021 TMC6 transmembrane channel like 6 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "LAK-4P|EVIN1" "EVER1|TNRC6C-AS1" "epidermodysplasia verruciformis 1|TNRC6C antisense RNA 1" Transmembrane channel like family 1135 2003-02-17 2005-11-10 2015-11-12 2021-05-26 11322 ENSG00000141524 OTTHUMG00000177466 uc002jul.2 AY057379 NM_001127198 CCDS32748 Q7Z403 12426567 MGI:1098686 RGD:1591146 "TMC6base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER1base)|http://structure.bmc.lu.se/idbase/TMC6base/|LRG_118|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_118.xml" 605828 159303 HGNC:18021 "ENST00000590602.6|NM_001127198.5" HGNC:18021 +HGNC:23000 TMC7 transmembrane channel like 7 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 FLJ21240 Transmembrane channel like family 1135 2003-08-14 2015-11-12 2016-10-05 79905 ENSG00000170537 OTTHUMG00000131456 uc002dfq.4 AY263165 NM_024847 "CCDS10573|CCDS73837|CCDS53992" Q7Z402 "12812529|12906855" MGI:2443317 RGD:1564267 617198 HGNC:23000 "ENST00000304381.10|NM_024847.4" +HGNC:20474 TMC8 transmembrane channel like 8 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 EVIN2 EVER2 epidermodysplasia verruciformis 2 Transmembrane channel like family 1135 2003-02-17 2005-11-10 2015-11-12 2021-05-26 147138 ENSG00000167895 OTTHUMG00000177436 uc002jup.3 AY057380 NM_152468 CCDS32749 Q8IU68 12426567 MGI:2669037 RGD:1591150 "TMC8base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER2base)|http://structure.bmc.lu.se/idbase/TMC8base/|LRG_119|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_119.xml" 605829 159387 HGNC:20474 "ENST00000318430.10|NM_152468.5" HGNC:20474 +HGNC:29116 TMCC1 transmembrane and coiled-coil domain family 1 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 KIAA0779 transmembrane and coiled-coil domains 1 Transmembrane and coiled-coil domain containing 774 2005-01-21 2005-07-13 2016-10-05 23023 ENSG00000172765 OTTHUMG00000159579 uc021xdy.2 AB018322 NM_015008 CCDS33855 O94876 9872452 MGI:2442368 RGD:1311909 616242 HGNC:29116 "ENST00000393238.8|NM_001017395.5" +HGNC:49060 TMCC1-DT TMCC1 divergent transcript non-coding RNA RNA, long non-coding Approved 3q22.1 03q22.1 TMCC1-AS1 TMCC1 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-08-20 2020-09-25 2020-09-25 2020-09-25 100507032 ENSG00000271270 OTTHUMG00000185164 NR_037893 TMCC1-AS1 HGNC:49060 +HGNC:31901 TMCC1P1 transmembrane and coiled-coil domain family 1 pseudogene 1 pseudogene pseudogene Approved 8q23.1 08q23.1 TMCC1P "transmembrane and coiled-coil domains 1 pseudogene|transmembrane and coiled-coil domain family 1 pseudogene" 2005-01-21 2010-04-19 2010-04-19 2014-11-18 100128132 ENSG00000253318 OTTHUMG00000164817 NG_016605 PGOHUM00000249471 HGNC:31901 +HGNC:24239 TMCC2 transmembrane and coiled-coil domain family 2 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "HUCEP11|FLJ38497" transmembrane and coiled-coil domains 2 Transmembrane and coiled-coil domain containing 774 2005-01-21 2005-07-13 2014-11-19 9911 ENSG00000133069 OTTHUMG00000037195 uc021pia.2 AB001596 NM_014858 "CCDS76257|CCDS55676|CCDS30984|CCDS73010|CCDS81418" O75069 9455484 MGI:1916125 RGD:1311960 619429 HGNC:24239 "ENST00000358024.8|NM_014858.4" +HGNC:41042 TMCC2-AS1 TMCC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q32.1 01q32.1 Antisense RNAs 1987 2020-03-30 2020-03-30 101929459 ENSG00000225063 OTTHUMG00000040690 XR_922459 +HGNC:29199 TMCC3 transmembrane and coiled-coil domain family 3 protein-coding gene gene with protein product Approved 12q22 12q22 KIAA1145 transmembrane and coiled-coil domains 3 "Transmembrane and coiled-coil domain containing|MicroRNA protein coding host genes" "774|1691" 2005-01-21 2005-07-13 2016-11-10 57458 ENSG00000057704 OTTHUMG00000170225 uc001tdj.3 AB032971 NM_020698 "CCDS31877|CCDS73506" Q9ULS5 10574461 MGI:2442900 RGD:1307241 617459 HGNC:29199 "ENST00000261226.9|NM_020698.4" +HGNC:18188 TMCO1 transmembrane and coiled-coil domains 1 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 HP10122 Ca(2+) load-activated Ca(2+) channel TMCC4 transmembrane and coiled-coil domains 4 2005-05-19 2005-07-13 2005-07-13 2019-09-19 54499 ENSG00000143183 OTTHUMG00000034672 uc057mzb.1 AB020980 NM_019026 CCDS1251 Q9UM00 "8619474|9110174|27212239" MGI:1921173 RGD:1359178 614123 232228 HGNC:18188 "ENST00000367881.11|NM_019026.6" HGNC:18188 +HGNC:54046 TMCO1-AS1 TMCO1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q24.1 01q24.1 Antisense RNAs 1987 2018-09-26 2018-09-26 100147773 ENSG00000224358 OTTHUMG00000034703 NR_125374 HGNC:54046 +HGNC:23312 TMCO2 transmembrane and coiled-coil domains 2 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 dJ39G22.2 2005-07-13 2015-08-26 127391 ENSG00000188800 OTTHUMG00000005764 uc001cfe.3 AL050341 NM_001008740 CCDS30684 Q7Z6W1 MGI:1916719 RGD:2321463 HGNC:23312 "ENST00000372766.4|NM_001008740.4" +HGNC:20329 TMCO3 transmembrane and coiled-coil domains 3 protein-coding gene gene with protein product Approved 13q34 13q34 FLJ20623 C13orf11 chromosome 13 open reading frame 11 2003-01-29 2005-07-22 2005-07-22 2015-11-12 55002 ENSG00000150403 OTTHUMG00000017389 uc001vtu.5 BC012564 NM_017905 "CCDS86365|CCDS9537" Q6UWJ1 MGI:2444946 RGD:1306586 617134 HGNC:20329 "ENST00000434316.7|NM_017905.6" HGNC:20329 +HGNC:27393 TMCO4 transmembrane and coiled-coil domains 4 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 DKFZp686C23231 2005-08-09 2014-11-19 255104 ENSG00000162542 OTTHUMG00000002697 uc001bcn.3 NM_181719 CCDS198 Q5TGY1 MGI:1924306 RGD:1566357 HGNC:27393 "ENST00000294543.11|NM_181719.7" +HGNC:28558 TMCO5A transmembrane and coiled-coil domains 5A protein-coding gene gene with protein product Approved 15q14 15q14 MGC35118 TMCO5 transmembrane and coiled-coil domains 5 2005-10-25 2008-06-10 2008-06-10 2019-03-19 145942 ENSG00000166069 OTTHUMG00000129787 uc001zjw.4 BC029221 NM_152453 "CCDS10046|CCDS81862" Q8N6Q1 30632224 MGI:1914606 RGD:1565206 HGNC:28558 "ENST00000319669.5|NM_152453.4" +HGNC:34243 TMCO5B transmembrane and coiled-coil domains 5B (pseudogene) pseudogene pseudogene Approved 15q13.3 15q13.3 transmembrane and coiled-coil domains 5B 2008-06-10 2016-01-06 2020-04-20 100652857 ENSG00000215296 OTTHUMG00000167569 NR_046005 A8MYB1 MGI:1922525 RGD:1561237 HGNC:34243 +HGNC:28814 TMCO6 transmembrane and coiled-coil domains 6 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "FLJ39769|PRO1580" Armadillo like helical domain containing 1492 2006-08-21 2014-11-19 55374 ENSG00000113119 OTTHUMG00000129497 uc003lgl.4 BC001910 NM_018502 "CCDS75320|CCDS4233" Q96DC7 12477932 MGI:1919233 RGD:1309263 HGNC:28814 "ENST00000394671.8|NM_018502.5" +HGNC:53646 TMDD1 transmembrane and death domain 1 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 hCG1648055 C12orf81 chromosome 12 open reading frame 81 2017-08-11 2019-07-17 2019-07-17 2019-07-17 112163659 ENSG00000284730 OTTHUMG00000192217 NM_001386737 P0DPE3 MGI:6097044 "ENST00000642069.2|NM_001386737.1" +HGNC:17291 TMED1 transmembrane p24 trafficking protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "ST2L|MGC1270|IL1RL1LG|Il1rl1l|p24gamma1|p24g1" "transmembrane emp24 domain containing 1|transmembrane emp24 protein transport domain containing 1" Transmembrane p24 trafficking proteins 1064 2005-01-07 2015-08-11 2020-04-01 11018 ENSG00000099203 OTTHUMG00000180696 uc002mpy.5 U41804 NM_006858 CCDS12249 Q13445 "11466339|8621446" MGI:106201 RGD:1311679 605395 HGNC:17291 "ENST00000214869.7|NM_006858.4" +HGNC:16996 TMED2 transmembrane p24 trafficking protein 2 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "RNP24|P24A|p24beta1|p24b1" transmembrane emp24 domain trafficking protein 2 Transmembrane p24 trafficking proteins 1064 2005-08-26 2015-08-11 2015-08-11 10959 ENSG00000086598 OTTHUMG00000168694 uc001ufg.4 X92098 NM_006815 CCDS9250 Q15363 8663407 MGI:1929269 RGD:69243 619642 HGNC:16996 "ENST00000262225.8|NM_006815.4" +HGNC:53346 TMED2-DT TMED2 divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.31 12q24.31 Divergent transcripts 1990 2019-05-15 2019-05-15 101927415 ENSG00000247373 OTTHUMG00000168693 NR_110049 HGNC:53346 +HGNC:28889 TMED3 transmembrane p24 trafficking protein 3 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "p24B|p24gamma4|p24g4" C15orf22 "chromosome 15 open reading frame 22|transmembrane emp24 domain containing 3|transmembrane emp24 protein transport domain containing 3" Transmembrane p24 trafficking proteins 1064 2004-06-25 2005-01-07 2015-08-11 2016-10-05 23423 ENSG00000166557 OTTHUMG00000144170 uc002beu.4 BC022232 NM_007364 "CCDS86480|CCDS81914|CCDS73768|CCDS10310" Q9Y3Q3 12975309 MGI:1913361 RGD:1303327 HGNC:28889 "ENST00000299705.10|NM_007364.4" +HGNC:22301 TMED4 transmembrane p24 trafficking protein 4 protein-coding gene gene with protein product Approved 7p13 07p13 "HNLF|p24alpha3|p24a3" transmembrane emp24 protein transport domain containing 4 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2015-08-11 222068 ENSG00000158604 OTTHUMG00000129210 uc003tli.4 BC035467 NM_182547 "CCDS5493|CCDS78226|CCDS78227" Q7Z7H5 12761501 MGI:1915070 RGD:1306319 612038 HGNC:22301 "ENST00000457408.7|NM_182547.4" +HGNC:24251 TMED5 transmembrane p24 trafficking protein 5 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 "CGI-100|p24g2|p24gamma2" transmembrane emp24 protein transport domain containing 5 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2015-08-11 50999 ENSG00000117500 OTTHUMG00000010162 uc001dpn.4 BC070051 NM_016040 "CCDS743|CCDS53342" Q9Y3A6 10810093 MGI:1921586 RGD:1359437 616876 HGNC:24251 "ENST00000370282.8|NM_016040.5" +HGNC:28331 TMED6 transmembrane p24 trafficking protein 6 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "MGC23911|p24gamma5|p24g5" transmembrane emp24 protein transport domain containing 6 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2019-03-19 146456 ENSG00000157315 OTTHUMG00000137571 uc002exc.3 BC020827 NM_144676 CCDS10878 Q8WW62 22129529 MGI:1913519 RGD:1305260 HGNC:28331 "ENST00000288025.4|NM_144676.4" +HGNC:24253 TMED7 transmembrane p24 trafficking protein 7 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "CGI-109|FLJ90481|p24gamma3|p24g3" transmembrane emp24 protein transport domain containing 7 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2015-08-11 51014 ENSG00000134970 OTTHUMG00000132013 uc003krf.4 AK074962 NM_181836 CCDS4120 Q9Y3B3 10810093 MGI:1913926 RGD:727954 HGNC:24253 "ENST00000456936.4|NM_181836.6" HGNC:24253 +HGNC:33945 TMED7-TICAM2 TMED7-TICAM2 readthrough other readthrough Approved 5q22.3 05q22.3 2009-11-05 2009-11-05 2014-11-19 100302736 ENSG00000251201 OTTHUMG00000162911 uc003kre.4 NM_001164468 "MGI:1913926|MGI:3040056" HGNC:33945 +HGNC:18633 TMED8 transmembrane p24 trafficking protein family member 8 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 FAM15B "family with sequence similarity 15, member B|transmembrane emp24 domain containing 8|transmembrane emp24 protein transport domain containing 8" GOLD domain containing 1062 2003-01-10 2005-01-07 2015-08-11 2020-04-20 283578 ENSG00000100580 OTTHUMG00000171552 uc001xto.2 AK095650 NM_213601 CCDS32125 Q6PL24 MGI:1923480 RGD:1589336 HGNC:18633 "ENST00000216468.8|NM_213601.3" +HGNC:24878 TMED9 transmembrane p24 trafficking protein 9 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "HSGP25L2G|p24alpha2|p24a2" transmembrane emp24 protein transport domain containing 9 Transmembrane p24 trafficking proteins 1064 2004-12-21 2015-08-11 2022-01-10 54732 ENSG00000184840 OTTHUMG00000130859 uc003mhx.4 AF441399 NM_017510 CCDS4428 Q9BVK6 "31253868|34561617" MGI:1914761 RGD:1307627 HGNC:24878 "ENST00000332598.7|NM_017510.6" +HGNC:16998 TMED10 transmembrane p24 trafficking protein 10 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "TMP21|P24(DELTA)|p24d1|p24delta1|p23" transmembrane emp24-like trafficking protein 10 (yeast) Transmembrane p24 trafficking proteins 1064 2005-08-26 2015-08-11 2015-08-11 10972 ENSG00000170348 OTTHUMG00000171771 uc001xrm.2 "AL832012|X97442" NM_006827 CCDS9840 P49755 "7596406|8663407" MGI:1915831 RGD:620970 605406 HGNC:16998 "ENST00000303575.9|NM_006827.6" +HGNC:30754 TMED10P1 transmembrane p24 trafficking protein 10 pseudogene 1 pseudogene pseudogene Approved 8q24.3 08q24.3 Tmp21-II TMED10P "transmembrane emp24-like trafficking protein 10 (yeast) pseudogene|transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1" 2005-08-26 2010-04-19 2016-01-28 2016-01-28 286102 ENSG00000254618 OTTHUMG00000165203 AJ004914 XR_002807 10376215 PGOHUM00000249817 HGNC:30754 +HGNC:38105 TMED10P2 transmembrane p24 trafficking protein 10 pseudogene 2 pseudogene pseudogene Approved 3q21.3 03q21.3 transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 2 2010-04-19 2016-01-28 2016-10-05 100129727 ENSG00000239405 OTTHUMG00000159692 NG_023009 PGOHUM00000238175 HGNC:38105 +HGNC:35401 TMED11P transmembrane p24 trafficking protein 11, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 "p24alpha1|p24a1" transmembrane emp24 protein transport domain containing 11, pseudogene Transmembrane p24 trafficking proteins 1064 2009-01-06 2015-08-11 2015-08-11 100379220 ENSG00000215367 OTTHUMG00000154635 NR_033768 MGI:1914616 HGNC:35401 +HGNC:11866 TMEFF1 transmembrane protein with EGF like and two follistatin like domains 1 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 "H7365|CT120.1" "tomoregulin-1|cancer/testis antigen family 120, member 1" C9orf2 transmembrane protein with EGF-like and two follistatin-like domains 1 1998-08-06 2016-01-21 2016-10-05 8577 ENSG00000241697 OTTHUMG00000020367 uc004baz.3 U19878 NM_003692 CCDS6750 Q8IYR6 9730596 MGI:1926810 RGD:62005 603421 HGNC:11866 "ENST00000374879.5|NM_003692.5" +HGNC:11867 TMEFF2 transmembrane protein with EGF like and two follistatin like domains 2 protein-coding gene gene with protein product Approved 2q32.3 02q32.3 "TENB2|HPP1|TR|TPEF|CT120.2" "transmembrane protein TENB2|tomoregulin|cancer/testis antigen family 120, member 2" transmembrane protein with EGF-like and two follistatin-like domains 2 1998-10-02 2016-01-21 2016-01-21 23671 ENSG00000144339 OTTHUMG00000132723 uc002utc.4 AB017269 NM_016192 "CCDS2314|CCDS82547|CCDS82548" Q9UIK5 10903839 MGI:1861735 RGD:1308839 605734 HGNC:11867 "ENST00000272771.10|NM_016192.4" +HGNC:21427 TMEM8B transmembrane protein 8B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "NAG-5|NGX6|NGX6a|FP588" nasopharyngeal carcinoma expressed 6 "C9orf127|LINC00950" "chromosome 9 open reading frame 127|long intergenic non-protein coding RNA 950" TMEM8 family 1957 2004-04-16 2009-06-12 2009-06-12 2020-11-17 51754 ENSG00000137103 OTTHUMG00000019885 uc003zym.5 BC043384 NM_016446 "CCDS43800|CCDS6595" A6NDV4 "12918109|8619474" MGI:2441680 RGD:1310012 616888 HGNC:21427 "ENST00000643932.2|NM_001042590.4" +HGNC:18823 TMEM9 transmembrane protein 9 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 TMEM9A 2002-07-12 2019-02-08 252839 ENSG00000116857 OTTHUMG00000035831 uc001gwa.5 NM_016456 "CCDS1408|CCDS73001" Q9P0T7 "18541524|30119033|30374053" MGI:1913491 RGD:1307922 616877 HGNC:18823 "ENST00000367330.6|NM_001288565.2" +HGNC:1168 TMEM9B TMEM9 domain family member B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 C11orf15 "chromosome 11 open reading frame 15|TMEM9 domain family, member B" 2000-07-31 2005-10-06 2015-11-18 2020-09-17 56674 ENSG00000175348 OTTHUMG00000165676 uc001mhe.3 AJ400877 NM_001286094 "CCDS7796|CCDS66021" Q9NQ34 11528127 MGI:1915254 RGD:1310775 HGNC:1168 "ENST00000534025.6|NM_020644.3" +HGNC:19230 TMEM9B-AS1 TMEM9B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 C11orf18 "chromosome 11 open reading frame 18|TMEM9B antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-11-30 2011-11-25 2012-08-15 2021-03-17 493900 ENSG00000254860 OTTHUMG00000165677 uc031pyy.1 AJ400877 NR_073431 11528127 TMEM9B-AS1 HGNC:19230 +HGNC:16823 TMEM11 transmembrane protein 11 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "PMI|PM1" C17orf35 chromosome 17 open reading frame 35 2003-01-14 2005-09-08 2005-09-08 2020-04-01 8834 ENSG00000178307 OTTHUMG00000178971 uc002gyp.3 BC002819 NM_003876 CCDS11216 P17152 "2110658|21274005" MGI:2144726 RGD:1309817 618817 HGNC:16823 "ENST00000317635.6|NM_003876.3" +HGNC:55671 TMEM11-DT TMEM11 divergent transcript non-coding RNA RNA, long non-coding Approved 17p11.2 17p11.2 Divergent transcripts 1990 2021-06-30 2021-06-30 107984969 ENSG00000235530 XR_001753092 +HGNC:21076 TMEM14A transmembrane protein 14A protein-coding gene gene with protein product Approved 6p12.2 06p12.2 "PTD011|C6orf73" 2003-06-11 2016-10-05 28978 ENSG00000096092 OTTHUMG00000014856 uc003pax.4 AF239771 NM_014051 CCDS4943 Q9Y6G1 MGI:1922962 RGD:1307710 616870 HGNC:21076 "ENST00000211314.5|NM_014051.4" +HGNC:21384 TMEM14B transmembrane protein 14B protein-coding gene gene with protein product Approved 6p24.2 06p24.2 MGC1223 2003-06-11 2016-10-05 81853 ENSG00000137210 OTTHUMG00000014246 uc003mzk.5 AL024498 NM_030969 "CCDS75397|CCDS75396|CCDS47372|CCDS4515|CCDS75395" Q9NUH8 MGI:1913404 HGNC:21384 "ENST00000379542.10|NM_030969.5" +HGNC:55230 TMEM14B-DT TMEM14B divergent transcript non-coding RNA RNA, long non-coding Approved 6p24.2 06p24.2 Divergent transcripts 1990 2020-09-16 2020-09-16 118597831 ENSG00000272097 XR_007059443 +HGNC:20952 TMEM14C transmembrane protein 14C protein-coding gene gene with protein product Approved 6p24.2 06p24.2 "HSPC194|bA421M1.6|NET26" C6orf53 chromosome 6 open reading frame 53 2003-04-24 2004-04-21 2004-04-16 2016-10-05 51522 ENSG00000111843 OTTHUMG00000014242 uc021ylj.2 AF151028 NM_016462 CCDS4514 Q9P0S9 "11042152|12958361" MGI:1913404 RGD:621692 615318 HGNC:20952 "ENST00000229563.6|NM_016462.4" +HGNC:15660 TMEM14DP transmembrane protein 14D, pseudogene pseudogene pseudogene Approved 10q21.3 10q21.3 bA524O24.3 TMEM14D transmembrane protein 14D 2004-05-27 2015-09-24 2015-09-24 2015-09-24 645203 ENSG00000214881 OTTHUMG00000018356 NG_023183 A8MWL7 MGI:1913404 HGNC:15660 +HGNC:34386 TMEM14EP transmembrane protein 14E, pseudogene pseudogene pseudogene Approved 3q25.2 03q25.2 TMEM14E transmembrane protein 14E 2008-07-04 2015-09-24 2015-09-24 2021-10-07 645843 ENSG00000221962 OTTHUMG00000159652 NR_132656 Q6UXP3 RGD:2319087 HGNC:34386 +HGNC:26623 TMEM17 transmembrane protein 17 protein-coding gene gene with protein product Approved 2p15 02p15 FLJ34583 2004-01-14 2019-03-19 200728 ENSG00000186889 OTTHUMG00000129455 uc002sbt.3 NM_198276 CCDS1871 Q86X19 29050311 MGI:2144205 RGD:1310566 614950 HGNC:26623 "ENST00000335390.6|NM_198276.3" +HGNC:25257 TMEM18 transmembrane protein 18 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "DKFZp434C1714|lncND" 2004-02-05 2017-06-21 129787 ENSG00000151353 OTTHUMG00000151381 uc002qwl.4 AL137269 NM_152834 "CCDS33141|CCDS86815|CCDS86816" Q96B42 27029472 MGI:2387176 RGD:1359389 613220 HGNC:25257 "ENST00000281017.8|NM_152834.4" +HGNC:54481 TMEM18-DT TMEM18 divergent transcript non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 AC092159.2 Divergent transcripts 1990 2019-08-08 2019-08-08 105373354 ENSG00000233296 XR_001739245 31361511 HGNC:54481 +HGNC:25605 TMEM19 transmembrane protein 19 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 FLJ10936 2004-03-04 2016-11-10 55266 ENSG00000139291 OTTHUMG00000169558 uc001sws.4 BC008596 NM_018279 CCDS9002 Q96HH6 12477932 MGI:1914476 RGD:735209 HGNC:25605 "ENST00000266673.10|NM_018279.4" +HGNC:25890 TMEM25 transmembrane protein 25 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 FLJ14399 C2-set domain containing 592 2004-04-14 2014-11-18 84866 ENSG00000149582 OTTHUMG00000166339 uc010rye.3 AK075437 NM_032780 "CCDS81630|CCDS44747|CCDS44746|CCDS8398|CCDS44748|CCDS44745" Q86YD3 "15254712|12975309" MGI:1918937 RGD:1596132 613934 HGNC:25890 "ENST00000313236.10|NM_032780.4" +HGNC:28550 TMEM26 transmembrane protein 26 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "MGC35010|Em:AC068892.1" 2004-04-16 2022-01-10 219623 ENSG00000196932 OTTHUMG00000018293 uc001jlo.3 BC042872 NM_178505 CCDS41530 Q6ZUK4 "21980401|23663743|30089732" MGI:2143537 RGD:1309273 617803 HGNC:28550 "ENST00000399298.8|NM_178505.8" +HGNC:51209 TMEM26-AS1 TMEM26 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q21.2 10q21.2 Antisense RNAs 1987 2014-08-07 2014-08-07 101928781 ENSG00000237233 OTTHUMG00000018294 BC041470 NR_120643 TMEM26-AS1 HGNC:51209 +HGNC:16667 TMEM30A transmembrane protein 30A protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "FLJ10856|CDC50A" C6orf67 chromosome 6 open reading frame 67 2003-05-09 2004-06-18 2004-06-17 2020-11-17 55754 ENSG00000112697 OTTHUMG00000015050 uc003phw.3 AK001718 NM_018247 "CCDS47453|CCDS4983" Q9NV96 "15375526|21289302" MGI:106402 RGD:1303315 611028 objectId:3154 HGNC:16667 "ENST00000230461.11|NM_018247.4" +HGNC:48985 TMEM30A-DT TMEM30A divergent transcript non-coding RNA RNA, long non-coding Approved 6q14.1 06q14.1 Divergent transcripts 1990 2020-01-17 2020-07-16 100506804 ENSG00000225793 OTTHUMG00000015048 NR_040081 32079618 +HGNC:27254 TMEM30B transmembrane protein 30B protein-coding gene gene with protein product Approved 14q23.1 14q23.1 CDC50B 2004-06-17 2018-12-07 161291 ENSG00000182107 OTTHUMG00000171426 uc001xfl.4 AK091169 NM_001017970 CCDS32093 Q3MIR4 15375526 MGI:2442082 RGD:1308732 611029 HGNC:27254 "ENST00000555868.2|NM_001017970.3" +HGNC:55058 TMEM30BP1 TMEM30B pseudogene 1 pseudogene pseudogene Approved Xq24 Xq24 2020-06-04 2020-06-04 101928242 ENSG00000250995 NG_056227 +HGNC:30443 TMEM30CP transmembrane protein 30C, pseudogene pseudogene pseudogene Approved 3q12.1 03q12.1 CDC50C TMEM30C transmembrane protein 30C 2005-01-10 2016-07-19 2016-07-19 2016-07-19 644444 ENSG00000235156 OTTHUMG00000159056 uc062lyr.1 NR_028357 A0ZSE6 15375526 MGI:1918277 RGD:1306090 611030 HGNC:30443 +HGNC:28601 TMEM31 transmembrane protein 31 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 MGC39655 2004-06-18 2018-06-04 203562 ENSG00000179363 OTTHUMG00000022109 uc004elh.4 BC029575 NM_182541 CCDS35359 Q5JXX7 28454390 HGNC:28601 "ENST00000319560.7|NM_182541.2" +HGNC:25541 TMEM33 transmembrane protein 33 protein-coding gene gene with protein product Approved 4p13 04p13 "FLJ10525|Pom33" 2004-07-28 2019-03-07 55161 ENSG00000109133 OTTHUMG00000099381 uc003gwi.3 BC000948 NM_018126 CCDS3464 P57088 25612671 MGI:1915128 RGD:708371 618515 HGNC:25541 "ENST00000504986.6|NM_018126.3" +HGNC:25864 TMEM35A transmembrane protein 35A protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "FLJ14084|TUF-1|NACHO" "nAChR regulator|nicotinic acetylcholine receptor regulator" TMEM35 transmembrane protein 35 2004-09-06 2016-05-13 2016-05-13 2020-07-24 59353 ENSG00000126950 OTTHUMG00000022016 uc004egw.4 AK024146 NM_021637 CCDS14478 Q53FP2 26875622 MGI:1914814 RGD:1303093 HGNC:25864 "ENST00000372930.5|NM_021637.3" +HGNC:40021 TMEM35B transmembrane protein 35B protein-coding gene gene with protein product Approved 1p34.3 01p34.3 ZMYM6NB ZMYM6 neighbor 2011-05-23 2016-05-13 2016-05-13 2016-05-13 100506144 ENSG00000243749 OTTHUMG00000004158 uc001bye.4 NM_001195156 CCDS53296 Q8NCS4 MGI:3758095 RGD:2319741 HGNC:40021 +HGNC:18216 TMEM37 transmembrane protein 37 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 "PR1|PR" 2004-12-14 2020-11-17 140738 ENSG00000171227 OTTHUMG00000153304 uc002tly.4 AF361356 NM_183240 CCDS33281 Q8WXS4 MGI:2157899 RGD:628689 618831 HGNC:18216 "ENST00000306406.5|NM_183240.3" +HGNC:28462 TMEM38A transmembrane protein 38A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MGC3169|TRIC-A" 2004-12-21 2018-08-13 79041 ENSG00000072954 OTTHUMG00000182639 uc002nes.4 AK025981 NM_024074 CCDS12349 Q9H6F2 17611541 MGI:1921416 RGD:1307901 611235 HGNC:28462 "ENST00000187762.7|NM_024074.4" +HGNC:25535 TMEM38B transmembrane protein 38B protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "FLJ10493|bA219P18.1|D4Ertd89e|TRIC-B" C9orf87 chromosome 9 open reading frame 87 2004-02-19 2004-12-22 2004-12-21 2018-08-13 55151 ENSG00000095209 OTTHUMG00000020429 uc004bcu.3 BC031938 NM_018112 CCDS6768 Q9NVV0 "17611541|23316006" MGI:1098718 RGD:1305703 611236 330772 HGNC:25535 "ENST00000374692.8|NM_018112.3" HGNC:25535 +HGNC:25600 TMEM39A transmembrane protein 39A protein-coding gene gene with protein product Approved 3q13.33 03q13.33 "FLJ10902|SUSR2" suppressor of SQST-1 aggregates in rpl-43 mutants 2005-01-10 2020-01-17 55254 ENSG00000176142 OTTHUMG00000159361 uc003eck.3 BC021277 NM_018266 CCDS2987 Q9NV64 "28744351|31806350" MGI:1915096 RGD:1306421 HGNC:25600 "ENST00000319172.10|NM_018266.3" +HGNC:25510 TMEM39B transmembrane protein 39B protein-coding gene gene with protein product Approved 1p35.2 01p35.2 FLJ10315 MicroRNA protein coding host genes 1691 2005-01-10 2016-10-05 55116 ENSG00000121775 OTTHUMG00000004020 uc010ogv.3 AL136695 NM_018056 CCDS351 Q9GZU3 12477932 MGI:2682939 RGD:1359450 HGNC:25510 "ENST00000336294.10|NM_018056.4" +HGNC:25620 TMEM40 transmembrane protein 40 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 FLJ11036 2005-01-10 2018-06-04 55287 ENSG00000088726 OTTHUMG00000129801 uc062gwh.1 BC020658 NM_018306 "CCDS2613|CCDS68348|CCDS68347" Q8WWA1 29351801 MGI:2137870 RGD:1587025 HGNC:25620 "ENST00000314124.12|NM_018306.4" +HGNC:30544 TMEM41A transmembrane protein 41A protein-coding gene gene with protein product Approved 3q27.2 03q27.2 MGC15397 2005-01-19 2021-03-15 90407 ENSG00000163900 OTTHUMG00000156660 uc003fpj.2 BC019884 NM_080652 CCDS3271 Q96HV5 33520197 MGI:1913914 RGD:1591692 HGNC:30544 "ENST00000421852.6|NM_080652.4" +HGNC:28948 TMEM41B transmembrane protein 41B protein-coding gene gene with protein product Approved 11p15.4 11p15.4 KIAA0033 stasimon 2005-01-19 2020-04-20 440026 ENSG00000166471 OTTHUMG00000165719 uc001mhn.4 D26067 NM_001165030 "CCDS31424|CCDS53600" Q5BJD5 "30093494|30126924|30352685" MGI:1289225 RGD:1310870 HGNC:28948 "ENST00000528080.6|NM_015012.4" +HGNC:28444 TMEM42 transmembrane protein 42 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC29956 MicroRNA protein coding host genes 1691 2005-01-19 2015-08-26 131616 ENSG00000169964 OTTHUMG00000133092 uc003cnz.4 AL834253 NM_144638 CCDS2722 Q69YG0 12477932 MGI:1277176 RGD:1307118 HGNC:28444 "ENST00000302392.5|NM_144638.3" +HGNC:28472 TMEM43 transmembrane protein 43 protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "MGC3222|DKFZp586G1919|LUMA" ARVD5 arrhythmogenic right ventricular dysplasia 5 2005-01-24 2021-04-13 79188 ENSG00000170876 OTTHUMG00000129802 uc003byk.3 BC008054 NM_024334 CCDS2618 Q9BTV4 "18313022|27991920" MGI:1921372 RGD:1549711 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TMEM43|LRG_435|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_435.xml" 612048 159517 HGNC:28472 "ENST00000306077.5|NM_024334.3" HGNC:28472 +HGNC:25120 TMEM44 transmembrane protein 44 protein-coding gene gene with protein product Approved 3q29 03q29 DKFZp686O18124 2005-01-25 2016-04-25 93109 ENSG00000145014 OTTHUMG00000156023 uc011bsv.3 AL833026 NM_138399 "CCDS3308|CCDS54698|CCDS33921|CCDS54699" Q2T9K0 MGI:1924489 RGD:1563737 HGNC:25120 "ENST00000347147.9|NM_001011655.3" +HGNC:44272 TMEM44-AS1 TMEM44 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 TMEM44 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-03 2012-08-15 2014-02-12 100507297 ENSG00000231770 OTTHUMG00000156027 uc031scw.2 "BE071707|BI088778|BM717338|BU741601" NR_047573 TMEM44-AS1 HGNC:44272 +HGNC:41082 TMEM44-AS2 TMEM44 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Antisense RNAs 1987 2021-07-28 2021-07-28 122152323 ENSG00000229334 OTTHUMG00000156018 +HGNC:25480 TMEM45A transmembrane protein 45A protein-coding gene gene with protein product Approved 3q12.2 03q12.2 "FLJ10134|DERP7" 2005-02-04 2018-06-04 55076 ENSG00000181458 OTTHUMG00000150327 uc003dtz.2 AK000996 NM_018004 "CCDS87113|CCDS2937" Q9NWC5 26785122 MGI:1913122 RGD:6495353 616928 HGNC:25480 "ENST00000323523.8|NM_018004.3" +HGNC:25194 TMEM45B transmembrane protein 45B protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "BC016153|FLJ40787" 2005-02-04 2020-04-01 120224 ENSG00000151715 OTTHUMG00000165760 uc001qfe.2 AK098106 NM_138788 CCDS8482 Q96B21 "21277373|28244852" MGI:2384574 RGD:1305586 HGNC:25194 "ENST00000281441.8|NM_138788.5" +HGNC:18515 TMEM47 transmembrane protein 47 protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 "BCMP1|DKFZP761J17121|DKFZp564E153|VAB-9" TM4SF10 transmembrane 4 superfamily member 10 2003-07-10 2005-03-21 2005-03-21 2016-11-07 83604 ENSG00000147027 OTTHUMG00000021343 uc004ddh.3 AK090917 NM_031442 CCDS14235 Q9BQJ4 "11472633|26990309" MGI:2177570 RGD:1564799 300698 HGNC:18515 "ENST00000275954.4|NM_031442.4" +HGNC:30590 TMEM50A transmembrane protein 50A protein-coding gene gene with protein product Approved 1p36.11 01p36.11 SMP1 small membrane protein 1 2005-06-02 2014-11-19 23585 ENSG00000183726 OTTHUMG00000007651 uc001bke.4 AY071927 NM_014313 CCDS264 O95807 "10938938|10845894" MGI:1919067 RGD:1305638 605348 HGNC:30590 "ENST00000374358.5|NM_014313.4" +HGNC:1280 TMEM50B transmembrane protein 50B protein-coding gene gene with protein product Approved 21q22.11 21q22.11 C21orf4 chromosome 21 open reading frame 4 1998-08-06 2005-06-02 2005-06-02 2020-09-17 757 ENSG00000142188 OTTHUMG00000065286 uc061zqd.1 AF045606 NM_006134 CCDS13625 P56557 MGI:1925225 RGD:1307561 617894 HGNC:1280 "ENST00000542230.7|NM_006134.7" +HGNC:25488 TMEM51 transmembrane protein 51 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 FLJ10199 C1orf72 chromosome 1 open reading frame 72 2005-05-18 2005-05-22 2005-05-22 2014-11-18 55092 ENSG00000171729 OTTHUMG00000002046 uc010obk.3 AK098467 NM_018022 "CCDS154|CCDS81266" Q9NW97 12477932 MGI:2384874 RGD:1565452 HGNC:25488 "ENST00000376008.3|NM_001136218.2" +HGNC:26301 TMEM51-AS1 TMEM51 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 FLJ23703 C1orf126 chromosome 1 open reading frame 126 Antisense RNAs 1987 2005-06-23 2013-12-05 2013-12-05 2014-11-18 200197 ENSG00000175147 OTTHUMG00000002043 uc009voh.3 AK074283 NR_027136 TMEM51-AS1 HGNC:26301 +HGNC:32332 TMEM51-AS2 TMEM51 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p36.21 01p36.21 C1orf195 chromosome 1 open reading frame 195 Antisense RNAs 1987 2006-06-30 2021-01-25 2021-01-25 2021-01-25 727684 ENSG00000204464 OTTHUMG00000037852 uc057cmh.2 NR_167930 HGNC:32332 +HGNC:27916 TMEM52 transmembrane protein 52 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 2005-07-15 2014-11-19 339456 ENSG00000178821 OTTHUMG00000000944 uc001aij.3 AJ278736 NM_178545 CCDS35 Q8NDY8 MGI:1916921 RGD:2318502 HGNC:27916 "ENST00000310991.8|NM_178545.4" +HGNC:26438 TMEM52B transmembrane protein 52B protein-coding gene gene with protein product Approved 12p13.2 12p13.2 FLJ31166 C12orf59 chromosome 12 open reading frame 59 2006-02-09 2012-08-15 2012-08-15 2014-11-18 120939 ENSG00000165685 OTTHUMG00000168410 uc031yuk.2 AY358845 NM_153022 "CCDS66314|CCDS8619" Q4KMG9 12975309 MGI:2442838 RGD:1586337 HGNC:26438 "ENST00000543484.2|NM_001384896.1" +HGNC:26186 TMEM53 transmembrane protein 53 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "FLJ22353|NET4" 2005-06-07 2020-11-17 79639 ENSG00000126106 OTTHUMG00000007833 uc001cmc.4 NM_024587 "CCDS511|CCDS72773" Q6P2H8 12958361 MGI:1916027 RGD:1307066 619722 HGNC:26186 "ENST00000372237.8|NM_024587.4" +HGNC:24143 TMEM54 transmembrane protein 54 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 CAC-1 2005-06-28 2016-10-05 113452 ENSG00000121900 OTTHUMG00000004016 uc001bwi.2 NM_033504 "CCDS85954|CCDS371" Q969K7 9500206 MGI:1913510 RGD:1304886 HGNC:24143 "ENST00000373463.8|NM_033504.4" +HGNC:1239 TMEM59 transmembrane protein 59 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 HSPC001 C1orf8 chromosome 1 open reading frame 8 1999-07-22 2005-07-22 2005-07-22 2020-11-17 9528 ENSG00000116209 OTTHUMG00000008437 uc001cwp.4 AF047439 NM_004872 "CCDS586|CCDS81330|CCDS81329" Q9BXS4 "9653160|23376921" MGI:1929278 RGD:1310313 617084 HGNC:1239 "ENST00000234831.10|NM_004872.5" +HGNC:13237 TMEM59L transmembrane protein 59 like protein-coding gene gene with protein product Approved 19p13.11 19p13.11 BSMAP C19orf4 chromosome 19 open reading frame 4 2002-09-13 2007-03-14 2015-11-23 2020-11-17 25789 ENSG00000105696 OTTHUMG00000183113 uc002njy.5 AF186264 NM_012109 CCDS12383 Q9UK28 "10527841|27324899" MGI:1915187 RGD:1305557 617096 HGNC:13237 "ENST00000262817.8|NM_012109.3" +HGNC:21754 TMEM60 transmembrane protein 60 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 DC32 C7orf35 chromosome 7 open reading frame 35 2003-07-22 2005-07-25 2005-07-25 2014-11-19 85025 ENSG00000135211 OTTHUMG00000130689 uc003ugn.4 AF260336 NM_032936 CCDS5593 Q9H2L4 MGI:2673965 RGD:1308939 HGNC:21754 "ENST00000257663.4|NM_032936.4" +HGNC:27296 TMEM61 transmembrane protein 61 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 2005-07-25 2015-09-11 199964 ENSG00000143001 OTTHUMG00000009991 uc001cyd.3 BC029775 NM_182532 CCDS601 Q8N0U2 12477932 MGI:3041156 RGD:1584102 HGNC:27296 "ENST00000371268.4|NM_182532.3" +HGNC:26269 TMEM62 transmembrane protein 62 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 FLJ23375 2005-07-25 2017-06-29 80021 ENSG00000137842 OTTHUMG00000176485 uc001zqr.4 BC009981 NM_024956 CCDS32210 Q0P6H9 24767823 MGI:2139461 RGD:1305647 HGNC:26269 "ENST00000260403.7|NM_024956.4" +HGNC:29118 TMEM63A transmembrane protein 63A protein-coding gene gene with protein product Approved 1q42.12 01q42.12 KIAA0792 KIAA0792 2005-05-16 2005-07-25 2005-07-25 2020-11-17 9725 ENSG00000196187 OTTHUMG00000037442 uc001hpm.3 NM_014698 CCDS31042 O94886 "9872452|9455484|30382938" MGI:2384789 RGD:1306829 618685 HGNC:29118 "ENST00000366835.8|NM_014698.3" HGNC:29118 +HGNC:17735 TMEM63B transmembrane protein 63B protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "DKFZp434P0531|dJ421H19.2" C6orf110 chromosome 6 open reading frame 110 2003-11-25 2005-07-25 2005-07-25 2018-11-19 55362 ENSG00000137216 OTTHUMG00000014757 uc063ovd.1 BC022095 NM_001318792 CCDS34461 Q5T3F8 MGI:2387609 RGD:1305862 HGNC:17735 "ENST00000323267.11|NM_018426.3" +HGNC:23787 TMEM63C transmembrane protein 63C protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "DKFZp434P0111|CSC1|hsCSC1" calcium permeable stress-gated cation channel 1 homolog (Arabidopsis) C14orf171 chromosome 14 open reading frame 171 2003-12-10 2005-07-25 2005-07-25 2020-11-17 57156 ENSG00000165548 OTTHUMG00000171557 uc001xtf.3 NM_020431 CCDS45141 Q9P1W3 "24503647|27045885" MGI:2444386 RGD:1310207 HGNC:23787 "ENST00000298351.5|NM_020431.4" +HGNC:25441 TMEM64 transmembrane protein 64 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 DKFZp762C1112 2005-07-29 2014-11-19 169200 ENSG00000180694 OTTHUMG00000157185 uc003yen.3 AL834364 NM_001008495 "CCDS55260|CCDS34920" Q6YI46 MGI:2140359 RGD:1596128 HGNC:25441 "ENST00000458549.7|NM_001008495.4" +HGNC:25203 TMEM65 transmembrane protein 65 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 2005-07-29 2015-03-02 157378 ENSG00000164983 OTTHUMG00000165021 uc010mdl.4 BC032396 NM_194291 CCDS6348 Q6PI78 24765583 MGI:1922118 RGD:1563224 616609 HGNC:25203 "ENST00000297632.8|NM_194291.3" +HGNC:28396 TMEM67 transmembrane protein 67 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "MGC26979|JBTS6|NPHP11" Meckelin MKS3 Meckel syndrome, type 3 MKS complex 1545 2005-08-04 2021-04-13 91147 ENSG00000164953 OTTHUMG00000153119 uc011lgk.3 BX648768 NM_153704 CCDS6258 Q5HYA8 "12384791|16415887|19508969" MGI:1923928 RGD:1586167 LRG_688|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_688.xml 609884 120140 HGNC:28396 "ENST00000453321.8|NM_153704.6" HGNC:28396 +HGNC:26510 TMEM68 transmembrane protein 68 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 FLJ32370 2005-08-04 2019-03-19 137695 ENSG00000167904 OTTHUMG00000164293 uc003xsh.3 AK056932 NM_152417 "CCDS75740|CCDS75742|CCDS6161|CCDS75741" Q96MH6 28472192 MGI:1919348 RGD:1309006 HGNC:26510 "ENST00000434581.7|NM_001286657.2" +HGNC:28035 TMEM69 transmembrane protein 69 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 FLJ21029 C1orf154 chromosome 1 open reading frame 154 2005-07-14 2005-08-17 2005-08-17 2014-11-19 51249 ENSG00000159596 OTTHUMG00000040993 uc001cor.2 "BC040289|BC013608" NM_016486 CCDS41325 Q5SWH9 MGI:3045357 RGD:1561569 HGNC:28035 "ENST00000372025.5|NM_016486.4" +HGNC:26050 TMEM70 transmembrane protein 70 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 FLJ20533 Mitochondrial respiratory chain complex assembly factors 645 2005-08-26 2022-01-07 54968 ENSG00000175606 OTTHUMG00000164502 uc003yab.4 BC002748 NM_017866 "CCDS6215|CCDS47876" Q9BUB7 "21945727|22986587|27580883" MGI:1915068 RGD:1566224 612418 169415 HGNC:26050 "ENST00000312184.6|NM_017866.6" HGNC:26050 +HGNC:26572 TMEM71 transmembrane protein 71 protein-coding gene gene with protein product Approved 8q24.22 08q24.22 FLJ33069 2005-09-02 2018-06-04 137835 ENSG00000165071 OTTHUMG00000164647 uc003ytn.4 AK057631 NM_144649 "CCDS6366|CCDS47921" Q6P5X7 20676127 MGI:2146049 RGD:1593414 HGNC:26572 "ENST00000677595.1|NM_001382403.1" +HGNC:31658 TMEM72 transmembrane protein 72 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "bA285G1.3|KSP37" C10orf127 chromosome 10 open reading frame 127 2004-04-28 2008-08-21 2008-08-21 2020-04-20 643236 ENSG00000187783 OTTHUMG00000018067 uc001jbn.3 AB235418 NM_001123376 "CCDS86085|CCDS41504" A0PK05 MGI:2442707 RGD:1308850 HGNC:31658 "ENST00000389583.5|NM_001123376.3" +HGNC:27349 TMEM72-AS1 TMEM72 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 TMEM72 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-10-20 2012-08-15 2014-11-19 220980 ENSG00000224812 OTTHUMG00000018062 uc001jbk.1 NR_033842 TMEM72-AS1 HGNC:27349 +HGNC:26409 TMEM74 transmembrane protein 74 protein-coding gene gene with protein product Approved 8q23.1 08q23.1 "FLJ30668|NET36" 2005-09-22 2019-03-20 157753 ENSG00000164841 OTTHUMG00000164881 uc003ymy.2 AK055230 NM_153015 CCDS6310 Q96NL1 "18294959|28412412" MGI:2443417 RGD:1566279 613935 HGNC:26409 "ENST00000297459.4|NM_153015.3" +HGNC:15893 TMEM74B transmembrane protein 74B protein-coding gene gene with protein product Approved 20p13 20p13 FLJ11190 C20orf46 chromosome 20 open reading frame 46 2001-06-21 2011-11-23 2011-11-23 2014-11-19 55321 ENSG00000125895 OTTHUMG00000031655 uc002weq.2 AK002052 NM_018354 CCDS13011 Q9NUR3 MGI:1918629 RGD:1564048 HGNC:15893 "ENST00000429036.2|NM_001304748.2" +HGNC:32307 TMEM78 transmembrane protein 78 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 FLJ40168 2005-09-27 2014-11-19 677790 ENSG00000177800 OTTHUMG00000037629 uc057qfo.1 AK097487 NR_172940 Q5T7P6 +HGNC:28196 TMEM79 transmembrane protein 79 protein-coding gene gene with protein product Approved 1q22 01q22 "MGC13102|FLJ16057|FLJ32254|MATT" mattrin 2006-02-15 2018-11-23 84283 ENSG00000163472 OTTHUMG00000019788 uc010phi.3 BC005094 NM_032323 CCDS1138 Q9BSE2 "24084074|30463955" MGI:1919163 RGD:1309886 615531 HGNC:28196 "ENST00000405535.3|NM_032323.3" +HGNC:27453 TMEM80 transmembrane protein 80 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 FLJ38216 2005-10-18 2019-03-20 283232 ENSG00000177042 OTTHUMG00000133307 uc001lqr.6 NM_174940 "CCDS41587|CCDS73231" Q96HE8 "22936720|26982032" MGI:1918698 RGD:1308399 HGNC:27453 "ENST00000397510.9|NM_001042463.3" +HGNC:32349 TMEM81 transmembrane protein 81 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "UNQ2788|MGC75217|HC3107|KVLA2788" Immunoglobulin like domain containing 594 2006-02-15 2014-11-19 388730 ENSG00000174529 OTTHUMG00000037103 uc001hbt.3 BC061592 NM_203376 CCDS1450 Q6P7N7 MGI:1921876 RGD:1561544 HGNC:32349 "ENST00000367167.4|NM_203376.2" +HGNC:32350 TMEM82 transmembrane protein 82 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 2007-08-02 2015-10-23 388595 ENSG00000162460 OTTHUMG00000003065 uc001axc.5 NM_001013641 CCDS30608 A0PJX8 MGI:2384869 RGD:1566169 HGNC:32350 "ENST00000375782.2|NM_001013641.3" +HGNC:26890 TMEM86A transmembrane protein 86A protein-coding gene gene with protein product Approved 11p15.1 11p15.1 FLJ90119 2005-10-28 2020-04-01 144110 ENSG00000151117 OTTHUMG00000167680 uc001moz.2 BC035692 NM_153347 CCDS7844 Q8N2M4 MGI:1915143 RGD:1305749 HGNC:26890 "ENST00000280734.3|NM_153347.3" +HGNC:28448 TMEM86B transmembrane protein 86B protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC30208 "alkenylglycerophosphocholine hydrolase|alkenylglycerophosphoethanolamine hydrolase" 2005-10-28 2020-04-01 255043 ENSG00000180089 OTTHUMG00000187285 uc002qju.4 BC023000 NM_173804 CCDS12920 Q8N661 21515882 MGI:1915505 RGD:1593455 617806 3.3.2.2 HGNC:28448 "ENST00000327042.5|NM_173804.5" +HGNC:24522 TMEM87A transmembrane protein 87A protein-coding gene gene with protein product Approved 15q15.1 15q15.1 DKFZP564G2022 7TM uncharacterized proteins 310 2005-10-30 2020-04-01 25963 ENSG00000103978 OTTHUMG00000172783 uc059icp.1 AF132733 NM_015497 "CCDS32205|CCDS66742|CCDS45243" Q8NBN3 26157166 MGI:2441844 RGD:1309417 HGNC:24522 "ENST00000389834.9|NM_015497.5" +HGNC:25913 TMEM87B transmembrane protein 87B protein-coding gene gene with protein product Approved 2q13 02q13 FLJ14681 7TM uncharacterized proteins 310 2005-10-30 2014-11-19 84910 ENSG00000153214 OTTHUMG00000153266 uc002thm.2 AC092645 NM_032824 CCDS33275 Q96K49 MGI:1919727 RGD:1307907 617203 471236 HGNC:25913 "ENST00000283206.9|NM_032824.3" +HGNC:32371 TMEM88 transmembrane protein 88 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC71744|FLJ20025" 2005-12-13 2020-04-01 92162 ENSG00000167874 OTTHUMG00000178022 uc002giy.4 BC057812 NM_203411 "CCDS11121|CCDS82058" Q6PEY1 MGI:1914270 RGD:1561781 617813 HGNC:32371 "ENST00000301599.7|NM_203411.2" +HGNC:37099 TMEM88B transmembrane protein 88B protein-coding gene gene with protein product Approved 1p36.33 01p36.33 2010-01-14 2013-01-16 643965 ENSG00000205116 OTTHUMG00000153395 uc010nyp.2 NM_001146685 CCDS57964 A6NKF7 MGI:2444329 RGD:1588243 HGNC:37099 "ENST00000378821.4|NM_001146685.2" +HGNC:32372 TMEM89 transmembrane protein 89 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 2005-11-02 2014-11-19 440955 ENSG00000183396 OTTHUMG00000156647 uc011bbo.3 AX657016 NM_001008269 CCDS33751 A2RUT3 MGI:1916634 RGD:1564575 HGNC:32372 "ENST00000330862.4|NM_001008269.3" +HGNC:32393 TMEM91 transmembrane protein 91 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "FLJ27310|IFITMD6|DSPC3" "interferon induced transmembrane protein domain containing 6|dispanin subfamily C member 3" interferon induced transmembrane protein domain containing 1600 2005-11-25 2020-04-01 641649 ENSG00000142046 OTTHUMG00000168127 uc002oqk.5 "AK130820|BC063705" NM_001042595 "CCDS46084|CCDS46083|CCDS42571|CCDS42572|CCDS46082" Q6ZNR0 12477932 MGI:2443589 RGD:2323264 618294 HGNC:32393 "ENST00000392002.7|NM_001098821.2" +HGNC:26579 TMEM92 transmembrane protein 92 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 FLJ33318 2005-12-13 2020-04-01 162461 ENSG00000167105 OTTHUMG00000162060 uc002iqn.2 NM_153229 CCDS11562 Q6UXU6 "12975309|22120523" MGI:3034723 RGD:1593405 619604 HGNC:26579 "ENST00000507382.2|NM_153229.3" HGNC:26579 +HGNC:50442 TMEM92-AS1 TMEM92 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 "RP11-893F2.9|lncRNA-508851|TCONS_00025237" Antisense RNAs 1987 2014-04-25 2014-04-29 2014-04-29 2014-04-29 103752589 ENSG00000251179 OTTHUMG00000162058 BU687974 NR_125805 24768205 TMEM92-AS1 HGNC:50442 +HGNC:28983 TMEM94 transmembrane protein 94 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA0195 KIAA0195 MicroRNA protein coding host genes 1691 2005-12-15 2015-10-07 2015-10-07 2016-11-16 9772 ENSG00000177728 OTTHUMG00000179611 NM_014738 "CCDS32732|CCDS82204" Q12767 8724849 MGI:1919197 618163 HGNC:28983 "ENST00000314256.12|NM_014738.6" HGNC:28983 +HGNC:27898 TMEM95 transmembrane protein 95 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC129793|UNQ9390" 2005-12-15 2020-06-09 339168 ENSG00000182896 OTTHUMG00000132899 uc002ggf.1 NM_198154 "CCDS82051|CCDS82052|CCDS32546" Q3KNT9 32484434 MGI:3779488 RGD:1593310 617814 HGNC:27898 "ENST00000576060.6|NM_001320436.2" +HGNC:28106 TMEM97 transmembrane protein 97 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "MAC30|σ2R" sigma2 receptor 2006-02-10 2020-10-30 27346 ENSG00000109084 OTTHUMG00000132497 uc002hat.3 BC091504 NM_014573 CCDS11226 Q5BJF2 "7694637|15375745|19583955|27378690|28559337" MGI:1916321 RGD:1307423 612912 objectId:2553 HGNC:28106 "ENST00000226230.8|NM_014573.3" +HGNC:39640 TMEM97P1 transmembrane protein 97 pseudogene 1 pseudogene pseudogene Approved 21q22.3 21q22.3 2011-03-17 2011-03-17 100873880 ENSG00000234030 OTTHUMG00000154997 NG_032333 PGOHUM00000239183 HGNC:39640 +HGNC:39641 TMEM97P2 transmembrane protein 97 pseudogene 2 pseudogene pseudogene Approved 8p21.3 08p21.3 2011-03-17 2011-03-17 724059 ENSG00000253866 OTTHUMG00000163890 NG_005603 PGOHUM00000249265 HGNC:39641 +HGNC:24529 TMEM98 transmembrane protein 98 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 DKFZP564K1964 2005-12-16 2015-08-26 26022 ENSG00000006042 OTTHUMG00000132882 uc002hhq.4 CR605381 NM_015544 CCDS11274 Q9Y2Y6 11230166 MGI:1923457 RGD:1359736 615949 410701 HGNC:24529 "ENST00000579849.6|NM_015544.3" HGNC:24529 +HGNC:25607 TMEM100 transmembrane protein 100 protein-coding gene gene with protein product Approved 17q22 17q22 "FLJ10970|FLJ37856" 2005-12-16 2020-04-01 55273 ENSG00000166292 OTTHUMG00000177858 uc002iuk.5 AK001832 NM_018286 CCDS11587 Q9NV29 25640077 MGI:1915138 RGD:1560541 616334 HGNC:25607 "ENST00000424486.3|NM_018286.3" +HGNC:28653 TMEM101 transmembrane protein 101 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MGC4251|FLJ23987" 2005-12-16 2020-04-01 84336 ENSG00000091947 OTTHUMG00000181803 uc002ieu.4 AK172826 NM_032376 CCDS11474 Q96IK0 12761501 MGI:1923797 RGD:1306490 HGNC:28653 "ENST00000206380.8|NM_032376.4" +HGNC:26722 TMEM102 transmembrane protein 102 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ36878|CBAP" common beta-chain-associated protein 2005-12-16 2015-05-13 284114 ENSG00000181284 OTTHUMG00000132901 uc002ggx.1 AK094197 NM_178518 CCDS11104 Q8N9M5 23620790 MGI:1921591 RGD:1559450 613936 HGNC:26722 "ENST00000323206.2|NM_178518.3" +HGNC:25984 TMEM104 transmembrane protein 104 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "FLJ20255|FLJ00021" 2005-12-19 2020-04-01 54868 ENSG00000109066 OTTHUMG00000179025 uc002jls.5 AK074029 NM_017728 "CCDS32723|CCDS82201" Q8NE00 MGI:2444222 RGD:1307953 HGNC:25984 "ENST00000335464.10|NM_017728.4" +HGNC:26794 TMEM105 TMEM105 long non-coding RNA non-coding RNA RNA, long non-coding Approved 17q25.3 17q25.3 FLJ38792 transmembrane protein 105 Long non-coding RNAs with non-systematic symbols 1992 2005-12-19 2008-04-21 2018-08-09 2020-07-22 284186 ENSG00000185332 OTTHUMG00000177905 uc002kad.4 AK096111 NR_165247 Q8N8V8 HGNC:26794 +HGNC:28288 TMEM106A transmembrane protein 106A protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MGC20235 2005-12-19 2016-08-09 113277 ENSG00000184988 OTTHUMG00000180879 uc002idn.2 AK056132 NM_145041 "CCDS77039|CCDS11462|CCDS74073" Q96A25 26215746 MGI:1922056 RGD:1309043 HGNC:28288 "ENST00000612339.4|NM_145041.4" +HGNC:22407 TMEM106B transmembrane protein 106B protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "MGC33727|FLJ11273" 2005-12-19 2020-10-06 54664 ENSG00000106460 OTTHUMG00000125537 uc011jxk.3 BC033901 NM_018374 CCDS5358 Q9NUM4 "20154673|22511793|30332472" MGI:1919150 RGD:1303037 613413 HGNC:22407 "ENST00000396668.8|NM_001134232.2" HGNC:22407 +HGNC:28775 TMEM106C transmembrane protein 106C protein-coding gene gene with protein product Approved 12q13.11 12q13.11 MGC5576 2005-12-19 2016-11-10 79022 ENSG00000134291 OTTHUMG00000169892 uc001rqr.4 BC000854 NM_024056 "CCDS8758|CCDS44867" Q9BVX2 MGI:1196384 RGD:1311532 HGNC:28775 "ENST00000429772.7|NM_001143842.2" +HGNC:28128 TMEM107 transmembrane protein 107 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC10744|JBTS29|MKS13" 2005-12-19 2020-04-01 84314 ENSG00000179029 OTTHUMG00000166276 uc002gkg.5 AF311338 NM_032354 "CCDS86571|CCDS45607|CCDS86572|CCDS11132" Q6UX40 "22698544|26123494|26518474" MGI:1914160 RGD:1595972 616183 471232 HGNC:28128 "ENST00000437139.7|NM_183065.4" HGNC:28128 +HGNC:28451 TMEM108 transmembrane protein 108 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "MGC3040|CT124" cancer/testis antigen 124 2005-12-22 2014-11-18 66000 ENSG00000144868 OTTHUMG00000159685 uc003eph.5 AL136578 NM_023943 "CCDS33858|CCDS75012" Q6UXF1 11214970 MGI:1932411 RGD:1311530 617361 HGNC:28451 "ENST00000321871.11|NM_023943.4" +HGNC:50307 TMEM108-AS1 TMEM108 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q22.1 03q22.1 Antisense RNAs 1987 2014-04-07 2014-04-07 101927455 ENSG00000251011 OTTHUMG00000159722 NR_110812 TMEM108-AS1 HGNC:50307 +HGNC:28771 TMEM109 transmembrane protein 109 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 MGC5508 2005-12-22 2020-04-01 79073 ENSG00000110108 OTTHUMG00000167801 uc001nqg.4 NM_024092 CCDS7996 Q9BVC6 "8619474|9110174" MGI:1915789 RGD:1359538 619168 HGNC:28771 "ENST00000227525.8|NM_024092.3" +HGNC:55487 TMEM109-DT TMEM109 divergent transcript non-coding RNA RNA, long non-coding Approved 11q12.2 11q12.2 Divergent transcripts 1990 2021-03-11 2021-03-11 105369323 ENSG00000256944 +HGNC:33227 TMEM114 transmembrane protein 114 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 2007-08-01 2015-08-26 283953 ENSG00000232258 OTTHUMG00000172868 uc032dql.1 BC150511 NM_001146336 "CCDS73825|CCDS76819|CCDS76820" B3SHH9 "17492639|21689651" MGI:1921970 RGD:1560593 611579 HGNC:33227 "ENST00000620492.5|NM_001146336.2" +HGNC:30055 TMEM115 transmembrane protein 115 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 PL6 placental protein 6 Rhomboid family 926 2006-01-13 2014-11-19 11070 ENSG00000126062 OTTHUMG00000044212 uc003dan.2 BC011948 NM_007024 CCDS2828 Q12893 11085536 MGI:1930765 RGD:1310540 607069 HGNC:30055 "ENST00000266025.4|NM_007024.5" +HGNC:25084 TMEM116 transmembrane protein 116 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 FLJ90167 2006-01-20 2022-01-10 89894 ENSG00000198270 OTTHUMG00000169606 uc001ttf.3 AK074648 NM_138341 "CCDS9157|CCDS55886|CCDS55887" Q8NCL8 34789718 MGI:1924712 RGD:1596066 HGNC:25084 "ENST00000552374.7|NM_001193531.2" +HGNC:25308 TMEM117 transmembrane protein 117 protein-coding gene gene with protein product Approved 12q12 12q12 DKFZp434K2435 2006-01-20 2016-11-10 84216 ENSG00000139173 OTTHUMG00000169427 uc001rod.5 BC060798 NM_032256 "CCDS73462|CCDS8745" Q9H0C3 11230166 MGI:2444580 RGD:1562562 HGNC:25308 "ENST00000266534.8|NM_032256.3" +HGNC:27884 TMEM119 transmembrane protein 119 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 OBIF osteoblast induction factor 2006-01-24 2020-08-17 338773 ENSG00000183160 OTTHUMG00000169410 uc001tng.4 AK075501 NM_181724 CCDS9119 Q4V9L6 "12975309|20025746" MGI:2385228 RGD:1307573 618989 HGNC:27884 "ENST00000392806.4|NM_181724.3" +HGNC:21697 TMEM120A transmembrane protein 120A protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "TMPIT|NET29" 2007-08-01 2020-08-10 83862 ENSG00000189077 OTTHUMG00000156620 uc032ztu.2 AF327923 NM_031925 "CCDS64688|CCDS83192" Q9BXJ8 32084332 MGI:2686991 RGD:1311474 616550 HGNC:21697 "ENST00000493111.7|NM_031925.3" +HGNC:32008 TMEM120B transmembrane protein 120B protein-coding gene gene with protein product Approved 12q24.31 12q24.31 2007-08-01 2015-09-08 144404 ENSG00000188735 OTTHUMG00000169076 uc001ubc.5 BC127768 NM_001080825 CCDS41852 A0PK00 MGI:3603158 RGD:1584031 616551 HGNC:32008 "ENST00000449592.7|NM_001080825.2" +HGNC:20511 TMEM121 transmembrane protein 121 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "MGC4659|hole|TMEM121A" transmembrane protein 121A 2006-02-15 2017-06-22 80757 ENSG00000184986 OTTHUMG00000029912 uc001yrp.2 NM_025268 CCDS10006 Q9BTD3 12204283 MGI:1916445 RGD:1597216 HGNC:20511 "ENST00000392519.7|NM_025268.4" +HGNC:1844 TMEM121B transmembrane protein 121B protein-coding gene gene with protein product Approved 22q11.1 22q11.1 CECR6 cat eye syndrome chromosome region, candidate 6 2000-01-31 2017-06-23 2017-06-23 2017-06-23 27439 ENSG00000183307 OTTHUMG00000030471 uc002zmb.3 AF307451 NM_031890 "CCDS54494|CCDS13740" Q9BXQ6 11381032 MGI:2136977 RGD:1565302 HGNC:1844 "ENST00000331437.4|NM_031890.4" +HGNC:30138 TMEM123 transmembrane protein 123 protein-coding gene gene with protein product Approved 11q22.2 11q22.2 "PORIMIN|KCT3" pro oncosis receptor inducing membrane injury gene 2006-02-03 2016-10-05 114908 ENSG00000152558 OTTHUMG00000167326 uc001pha.4 AL050161 NM_052932 CCDS41702 Q8N131 "11481458|24318988" MGI:1919179 RGD:1305625 606356 HGNC:30138 "ENST00000398136.7|NM_052932.3" +HGNC:55502 TMEM123-DT TMEM123 divergent transcript non-coding RNA RNA, long non-coding Approved 11q22.2 11q22.2 Divergent transcripts 1990 2021-03-17 2021-03-17 101928424 ENSG00000255337 NR_135053 +HGNC:28275 TMEM125 transmembrane protein 125 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 MGC17299 2006-02-13 2014-11-19 128218 ENSG00000179178 OTTHUMG00000007288 uc021oml.1 BC016858 NM_144626 CCDS480 Q96AQ2 MGI:1923409 RGD:1311937 HGNC:28275 "ENST00000439858.6|NM_144626.3" +HGNC:25382 TMEM126A transmembrane protein 126A protein-coding gene gene with protein product Approved 11q14.1 11q14.1 "DKFZp586C1924|OPA7" Mitochondrial complex I assembly complex 1387 2006-02-13 2022-01-06 84233 ENSG00000171202 OTTHUMG00000166975 uc001par.4 NM_032273 "CCDS8268|CCDS58165" Q9H061 "11230166|23500070|33879611|33882309" MGI:1913521 RGD:1305677 612988 232171 HGNC:25382 "ENST00000304511.7|NM_032273.4" HGNC:25382 +HGNC:30883 TMEM126B transmembrane protein 126B protein-coding gene gene with protein product Approved 11q14.1 11q14.1 HT007 Mitochondrial complex I assembly complex 1387 2006-02-13 2021-04-29 55863 ENSG00000171204 OTTHUMG00000166974 uc001pap.5 NM_018480 "CCDS8267|CCDS53686" Q8IUX1 22982022 MGI:1915722 RGD:1308371 615533 465924 HGNC:30883 "ENST00000358867.11|NM_018480.7" HGNC:30883 +HGNC:26038 TMEM127 transmembrane protein 127 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "FLJ20507|FLJ22257" 2006-02-13 2021-04-13 55654 ENSG00000135956 OTTHUMG00000130454 uc002svq.4 AK000514 NM_017849 CCDS2018 O75204 "10493829|32526160" MGI:1916720 RGD:1309744 LRG_528|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_528.xml TMEM127 613403 227079 HGNC:26038 "ENST00000258439.8|NM_017849.4" HGNC:26038 +HGNC:28201 TMEM128 transmembrane protein 128 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 MGC13159 2006-02-14 2014-11-19 85013 ENSG00000132406 OTTHUMG00000125475 uc003ghr.2 BC007729 NM_032927 "CCDS3373|CCDS75099" Q5BJH2 MGI:1913559 RGD:1310481 HGNC:28201 "ENST00000382753.5|NM_001297551.2" +HGNC:25137 TMEM129 transmembrane protein 129, E3 ubiquitin ligase protein-coding gene gene with protein product Approved 4p16.3 04p16.3 D4S2561E transmembrane protein 129 2006-02-14 2020-03-09 2021-07-30 92305 ENSG00000168936 OTTHUMG00000121150 uc003gdn.4 BC009331 NM_138385 "CCDS46998|CCDS3351" A0AVI4 "24807418|25030448|27854284" MGI:1915616 RGD:1310828 615975 HGNC:25137 "ENST00000382936.8|NM_001127266.2" +HGNC:25429 TMEM130 transmembrane protein 130 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DKFZp761L1417|FLJ42643" 2006-02-20 2014-11-18 222865 ENSG00000166448 OTTHUMG00000154419 uc011kir.3 NM_152913 "CCDS5658|CCDS47649|CCDS47650" Q8N3G9 12975309 MGI:3607706 RGD:1563248 HGNC:25429 "ENST00000339375.9|NM_152913.3" +HGNC:30366 TMEM131 transmembrane protein 131 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "CC28|YR-23|RW1|KIAA0257|PRO1048" 2006-02-24 2018-11-19 23505 ENSG00000075568 OTTHUMG00000153061 uc002syh.5 AK025852 NM_015348 CCDS46368 Q92545 "9039502|10996388" MGI:1927110 RGD:1309266 615659 HGNC:30366 "ENST00000186436.10|NM_015348.2" +HGNC:29146 TMEM131L transmembrane 131 like protein-coding gene gene with protein product Approved 4q31.3 04q31.3 DKFZp586H1322 KIAA0922 KIAA0922 2006-02-24 2017-04-28 2017-04-28 2017-04-28 23240 ENSG00000121210 OTTHUMG00000153244 uc003inm.5 AK096538 NM_015196 "CCDS3783|CCDS47148" A2VDJ0 "23690469|28347816" MGI:2443399 RGD:1583677 616243 HGNC:29146 "ENST00000409959.8|NM_001131007.2" +HGNC:31092 TMEM132A transmembrane protein 132A protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "GBP|FLJ20539" HSPA5BP1 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1 2004-02-04 2006-03-02 2006-03-02 2020-07-29 54972 ENSG00000006118 OTTHUMG00000167803 uc001nqi.4 AK000546 NM_017870 "CCDS7997|CCDS44618" Q24JP5 "12514190|29088312" MGI:2147810 RGD:727936 617363 HGNC:31092 "ENST00000453848.7|NM_178031.3" +HGNC:29397 TMEM132B transmembrane protein 132B protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "KIAA1906|KIAA1786" 2006-03-02 2020-07-29 114795 ENSG00000139364 OTTHUMG00000168520 uc001uhe.3 AB067493 NM_052907 "CCDS41859|CCDS66501" Q14DG7 "11572484|29088312" MGI:3609245 RGD:1566191 HGNC:29397 "ENST00000682704.1|NM_001366854.1" +HGNC:25436 TMEM132C transmembrane protein 132C protein-coding gene gene with protein product Approved 12q24.32 12q24.32 "DKFZp761O2018|PPP1R152" protein phosphatase 1, regulatory subunit 152 "Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes" "694|1691" 2006-03-02 2020-07-29 92293 ENSG00000181234 OTTHUMG00000163736 uc021rgn.1 AK126715 NM_001136103 CCDS45009 Q8N3T6 29088312 MGI:2443061 RGD:1583824 HGNC:25436 "ENST00000435159.3|NM_001136103.3" +HGNC:29411 TMEM132D transmembrane protein 132D protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "KIAA1944|MOLT|PPP1R153" protein phosphatase 1, regulatory subunit 153 Protein phosphatase 1 regulatory subunits 694 2006-03-02 2020-07-29 121256 ENSG00000151952 OTTHUMG00000168400 uc009zyl.2 AB061814 NM_133448 CCDS9266 Q14C87 "12966072|29088312|29317594" MGI:3044963 RGD:735062 611257 HGNC:29411 "ENST00000422113.7|NM_133448.3" HGNC:29411 +HGNC:27466 TMEM132D-AS1 TMEM132D antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 "LOC283352|RP11-669N7.2" Antisense RNAs 1987 2017-03-10 2019-08-08 283352 ENSG00000249196 OTTHUMG00000168401 NR_104172 "28265570|31368349" HGNC:27466 +HGNC:53324 TMEM132D-AS2 TMEM132D antisense RNA 2 non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Antisense RNAs 1987 2017-03-22 2017-03-22 101927735 ENSG00000256699 OTTHUMG00000168402 NR_110058 HGNC:53324 +HGNC:26991 TMEM132E transmembrane protein 132E protein-coding gene gene with protein product Approved 17q12 17q12 DFNB99 2006-03-02 2020-07-29 124842 ENSG00000181291 OTTHUMG00000132927 uc284oib.1 BN000149 NM_207313 CCDS11283 Q6IEE7 "25331638|29088312" MGI:2685490 RGD:1565522 616178 476287 HGNC:26991 "ENST00000631683.2|NM_001304438.2" HGNC:26991 +HGNC:34412 TMEM132E-DT TMEM132E divergent transcript non-coding RNA RNA, long non-coding Approved 17q12 17q12 FLJ44815 C17orf102 chromosome 17 open reading frame 102 Divergent transcripts 1990 2009-01-30 2021-02-22 2021-02-22 2021-02-22 400591 ENSG00000197322 OTTHUMG00000156883 uc002hie.2 NR_160787 A2RUQ5 RGD:9084586 HGNC:34412 +HGNC:26142 TMEM134 transmembrane protein 134 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 FLJ21749 2006-03-09 2014-11-19 80194 ENSG00000172663 OTTHUMG00000168034 uc001olq.3 AK025402 NM_025124 "CCDS41678|CCDS8167" Q9H6X4 MGI:1914240 RGD:1305824 HGNC:26142 "ENST00000308022.7|NM_025124.4" +HGNC:26167 TMEM135 transmembrane protein 135 protein-coding gene gene with protein product Approved 11q14.2 11q14.2 FLJ22104 Tim17 family 1857 2006-03-09 2019-03-20 65084 ENSG00000166575 OTTHUMG00000167248 uc001pch.4 BX648678 NM_022918 "CCDS8280|CCDS53692" Q86UB9 "21151927|27760563" MGI:1920009 RGD:1309948 616360 HGNC:26167 "ENST00000305494.6|NM_022918.4" +HGNC:26944 TMEM138 transmembrane protein 138 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "HSPC196|JBTS16" 2006-03-15 2014-11-19 51524 ENSG00000149483 OTTHUMG00000168145 uc001nrl.3 AF151030 NM_016464 "CCDS81569|CCDS8005" Q9NPI0 MGI:1920232 RGD:735168 614459 292990 HGNC:26944 "ENST00000278826.11|NM_016464.5" HGNC:26944 +HGNC:22058 TMEM139 transmembrane protein 139 protein-coding gene gene with protein product Approved 7q34 07q34 FLJ90586 2006-03-17 2015-08-26 135932 ENSG00000178826 OTTHUMG00000152652 uc064iuz.1 AK075067 NM_153345 CCDS5878 Q8IV31 MGI:1924444 RGD:1594187 616524 HGNC:22058 "ENST00000359333.8|NM_001282876.2" +HGNC:40988 TMEM139-AS1 TMEM139 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q34 07q34 Antisense RNAs 1987 2020-03-30 2020-03-30 105375545 ENSG00000231840 OTTHUMG00000152673 NR_133932 +HGNC:21870 TMEM140 transmembrane protein 140 protein-coding gene gene with protein product Approved 7q33 07q33 FLJ11000 2006-03-17 2014-11-19 55281 ENSG00000146859 OTTHUMG00000155413 uc003vsi.4 AK001862 NM_018295 CCDS5837 Q9NV12 MGI:1915737 RGD:1549759 HGNC:21870 "ENST00000275767.3|NM_018295.5" +HGNC:28211 TMEM141 transmembrane protein 141 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MGC14141 2006-03-21 2015-08-26 85014 ENSG00000244187 OTTHUMG00000020945 uc004cje.5 BC007834 NM_032928 CCDS7007 Q96I45 MGI:1098773 RGD:1561492 HGNC:28211 "ENST00000290079.9|NM_032928.4" +HGNC:25603 TMEM143 transmembrane protein 143 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ10922 2006-03-24 2020-04-01 55260 ENSG00000161558 OTTHUMG00000183197 uc002pix.2 AK129801 NM_018273 "CCDS77326|CCDS77325|CCDS12716" Q96AN5 12975309 MGI:1917459 RGD:1305013 HGNC:25603 "ENST00000293261.8|NM_018273.4" +HGNC:25633 TMEM144 transmembrane protein 144 protein-coding gene gene with protein product Approved 4q32.1 04q32.1 FLJ11155 2006-03-24 2019-03-20 55314 ENSG00000164124 OTTHUMG00000162013 uc003ipx.4 AK002017 NM_018342 CCDS3799 Q7Z5S9 21527035 MGI:1917902 RGD:1565845 HGNC:25633 "ENST00000296529.11|NM_018342.5" +HGNC:26912 TMEM145 transmembrane protein 145 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ90805 2006-03-24 2020-04-01 284339 ENSG00000167619 OTTHUMG00000177694 uc002otk.2 AK075286 NM_173633 CCDS12603 Q8NBT3 MGI:3607779 RGD:1595911 HGNC:26912 "ENST00000301204.8|NM_173633.3" +HGNC:30414 TMEM147 transmembrane protein 147 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "NIFIE14|MGC1936" 2006-03-31 2021-12-08 10430 ENSG00000105677 OTTHUMG00000048105 uc002oaj.3 BC001118 NM_032635 "CCDS56091|CCDS12466" Q9BVK8 "20538592|34638576" MGI:1915011 RGD:1304706 613585 HGNC:30414 "ENST00000222284.10|NM_032635.4" HGNC:30414 +HGNC:51273 TMEM147-AS1 TMEM147 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Antisense RNAs 1987 2014-08-22 2014-08-22 100506469 ENSG00000236144 OTTHUMG00000048104 CR627053 NR_038396 TMEM147-AS1 HGNC:51273 +HGNC:24677 TMEM150A transmembrane protein 150A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "TM6P1|FLJ90024|TTN1" tentonin 1 TMEM150 transmembrane protein 150 2006-05-08 2009-06-12 2009-06-12 2016-11-07 129303 ENSG00000168890 OTTHUMG00000130168 uc002spy.3 AK098152 NM_153342 CCDS33233 Q86TG1 "10858565|27321926" MGI:2385244 RGD:619998 616757 HGNC:24677 "ENST00000334462.10|NM_001031738.3" +HGNC:34415 TMEM150B transmembrane protein 150B protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "TTN2|DRAM3" "tentonin 2|DRAM-Related/Associated Member 3" TMEM224 transmembrane protein 224 2009-02-24 2009-06-12 2009-06-12 2020-04-01 284417 ENSG00000180061 OTTHUMG00000180709 uc010yfu.3 BC020862 NM_001085488 CCDS42629 A6NC51 "27321926|27046253" MGI:2679718 RGD:1306181 617291 HGNC:34415 "ENST00000326652.9|NM_001282011.2" +HGNC:37263 TMEM150C transmembrane protein 150C protein-coding gene gene with protein product Approved 4q21.22 04q21.22 "FLJ12993|TTN3" tentonin 3 2009-09-09 2016-11-07 441027 ENSG00000249242 OTTHUMG00000161083 uc011ccj.2 BC147027 NM_001080506 CCDS47087 B9EJG8 27321926 MGI:3041258 RGD:1306105 617292 HGNC:37263 "ENST00000449862.7|NM_001080506.3" +HGNC:28497 TMEM151A transmembrane protein 151A protein-coding gene gene with protein product Approved 11q13.2 11q13.2 MGC33486 TMEM151 transmembrane protein 151 2006-05-10 2007-10-25 2007-10-25 2022-01-10 256472 ENSG00000179292 OTTHUMG00000166920 uc001ohl.4 BC033898 NM_153266 CCDS8133 Q8N4L1 "34518509|34820915" MGI:2147713 RGD:1310680 HGNC:28497 "ENST00000327259.5|NM_153266.4" +HGNC:21315 TMEM151B transmembrane protein 151B protein-coding gene gene with protein product Approved 6p21.1 06p21.1 bA444E17.5 "C6orf137|TMEM193" "chromosome 6 open reading frame 137|transmembrane protein 193" 2003-11-26 2007-10-25 2007-10-25 2020-04-20 441151 ENSG00000178233 OTTHUMG00000014765 uc003oxh.3 AK126839 NM_001039704 CCDS47437 Q8IW70 MGI:2685169 RGD:1562074 HGNC:21315 "ENST00000451188.7|NM_001137560.2" +HGNC:26489 TMEM154 transmembrane protein 154 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 FLJ32028 2006-05-22 2019-03-20 201799 ENSG00000170006 OTTHUMG00000161463 uc003imw.3 AK056590 NM_152680 CCDS3779 Q6P9G4 22291605 MGI:2444725 RGD:1563262 HGNC:26489 "ENST00000304385.8|NM_152680.3" +HGNC:26260 TMEM156 transmembrane protein 156 protein-coding gene gene with protein product Approved 4p14 04p14 FLJ23235 2006-05-22 2015-08-26 80008 ENSG00000121895 OTTHUMG00000128582 uc003gto.4 AK026888 NM_024943 CCDS3448 Q8N614 12477932 MGI:2685292 RGD:1562424 HGNC:26260 "ENST00000381938.4|NM_024943.3" +HGNC:30293 TMEM158 transmembrane protein 158 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "RIS1|p40BBp" Ras induced senescence 1 transmembrane protein 158 (gene/pseudogene) 2006-07-11 2020-05-01 2020-05-01 25907 ENSG00000249992 OTTHUMG00000160317 uc011baf.3 AF438313 NM_015444 CCDS54573 Q8WZ71 "11399754|11822868" MGI:1919559 RGD:708473 HGNC:30293 "ENST00000503771.2|NM_015444.3" +HGNC:26042 TMEM160 transmembrane protein 160 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 FLJ20512 2006-06-19 2020-04-01 54958 ENSG00000130748 OTTHUMG00000183441 uc002pfz.4 AK000519 NM_017854 CCDS12695 Q9NX00 12477932 MGI:1916344 RGD:1564549 HGNC:26042 "ENST00000253047.7|NM_017854.2" +HGNC:26020 TMEM161A transmembrane protein 161A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "FLJ39645|FLJ20422" 2006-06-21 2020-04-01 54929 ENSG00000064545 OTTHUMG00000182217 uc002nlg.5 BC005210 NM_017814 "CCDS12393|CCDS58656" Q9NX61 12975309 MGI:2384577 RGD:1307703 618966 HGNC:26020 "ENST00000162044.14|NM_017814.3" +HGNC:28483 TMEM161B transmembrane protein 161B protein-coding gene gene with protein product Approved 5q14.3 05q14.3 MGC33214 2006-06-21 2022-01-10 153396 ENSG00000164180 OTTHUMG00000131323 uc003kjc.5 BC037287 NM_153354 "CCDS75269|CCDS75270|CCDS4065" Q8NDZ6 33597309 MGI:1919995 RGD:1309660 HGNC:28483 "ENST00000296595.11|NM_153354.5" +HGNC:43839 TMEM161B-DT TMEM161B divergent transcript non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 linc-POLR3G-8 TMEM161B-AS1 "TMEM161B antisense RNA 1 (non-protein coding)|TMEM161B antisense RNA 1" Divergent transcripts 1990 2012-03-26 2021-04-26 2021-04-26 2021-04-26 100505894 ENSG00000247828 OTTHUMG00000162704 uc003kje.5 AK082072 NR_039993 21890647 AK082072 TMEM161B-AS1 HGNC:43839 +HGNC:44973 TMEM161BP1 transmembrane protein 161B pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 2012-12-20 2012-12-20 646360 ENSG00000237970 OTTHUMG00000017972 NG_022901 PGOHUM00000251264 HGNC:44973 +HGNC:25380 TMEM163 transmembrane protein 163 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "DKFZP566N034|SV31" 2006-07-04 2020-06-19 81615 ENSG00000152128 OTTHUMG00000131713 uc002ttx.4 NM_030923 CCDS2172 Q8TC26 "17623043|28199205|32492420" MGI:1919410 RGD:1306212 618978 HGNC:25380 "ENST00000281924.6|NM_030923.5" +HGNC:26217 TMEM164 transmembrane protein 164 protein-coding gene gene with protein product Approved Xq23 Xq23 "FLJ22679|RP13-360B22.2" MicroRNA protein coding host genes 1691 2006-07-11 2019-03-20 84187 ENSG00000157600 OTTHUMG00000022192 uc065arn.1 AK094127 NM_032227 "CCDS14550|CCDS55475" Q5U3C3 30737907 MGI:2148020 RGD:1563286 HGNC:26217 "ENST00000372068.7|NM_032227.4" +HGNC:30760 TMEM165 transmembrane protein 165 protein-coding gene gene with protein product Approved 4q12 04q12 "TMPT27|TPARL|GDT1|SLC64A1" TPA regulated locus Solute carriers 752 2006-07-17 2020-10-07 55858 ENSG00000134851 OTTHUMG00000128735 uc003hax.4 AF183409 NM_018475 CCDS3499 Q9HC07 "3202867|22683087|23575229" MGI:894407 RGD:1306983 614726 317781 objectId:3050 HGNC:30760 "ENST00000381334.10|NM_018475.5" HGNC:30760 +HGNC:28330 TMEM167A transmembrane protein 167A protein-coding gene gene with protein product Approved 5q14.2 05q14.2 "FLJ30508|MGC23909" TMEM167 transmembrane protein 167 2006-08-07 2008-06-06 2008-06-06 2015-05-05 153339 ENSG00000174695 OTTHUMG00000162570 uc003khx.5 "BC107575|AK055070" NM_174909 CCDS34198 Q8TBQ9 1316117 MGI:1913324 RGD:2323318 HGNC:28330 "ENST00000502346.2|NM_174909.5" HGNC:28330 +HGNC:23956 TMEM167AP1 transmembrane protein 167A pseudogene 1 pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-02-11 2016-10-05 360028 ENSG00000226504 OTTHUMG00000036541 NG_002949 12815422 PGOHUM00000233792 HGNC:23956 +HGNC:55999 TMEM167AP2 TMEM167A pseudogene 2 pseudogene pseudogene Approved 19p13.12 19p13.12 2021-11-18 2021-11-18 100129118 ENSG00000256210 NG_029325 +HGNC:30187 TMEM167B transmembrane protein 167B protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "AD-020|FLJ90710" C1orf119 chromosome 1 open reading frame 119 2005-06-21 2008-06-06 2008-06-06 2014-11-19 56900 ENSG00000215717 OTTHUMG00000042364 uc001dwn.4 NM_020141 CCDS30789 Q9NRX6 12477932 MGI:1914745 RGD:1564454 HGNC:30187 "ENST00000338272.9|NM_020141.4" +HGNC:55076 TMEM167B-DT TMEM167B divergent transcript non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 Divergent transcripts 1990 2020-06-12 2020-06-12 105378892 ENSG00000273382 XR_007066295 +HGNC:25826 TMEM168 transmembrane protein 168 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 "DKFZp564C012|FLJ13576" 2006-08-08 2022-01-10 64418 ENSG00000146802 OTTHUMG00000155188 uc003vgn.5 NM_022484 CCDS5757 Q9H0V1 "30940290|32175648" MGI:1921794 RGD:1307778 HGNC:25826 "ENST00000312814.11|NM_022484.6" +HGNC:25130 TMEM169 transmembrane protein 169 protein-coding gene gene with protein product Approved 2q35 02q35 FLJ34263 2006-08-15 2014-11-19 92691 ENSG00000163449 OTTHUMG00000133053 uc010zjr.3 AK091582 NM_138390 CCDS2401 Q96HH4 12477932 MGI:2442781 RGD:1582820 HGNC:25130 "ENST00000437356.7|NM_001142311.2" +HGNC:29577 TMEM170A transmembrane protein 170A protein-coding gene gene with protein product Approved 16q23.1 16q23.1 FLJ37611 TMEM170 transmembrane protein 170 2006-08-17 2008-06-10 2008-06-10 2017-11-28 124491 ENSG00000166822 OTTHUMG00000137614 uc002fee.2 BX648484 NM_145254 "CCDS76899|CCDS10917|CCDS76901|CCDS76900" Q8WVE7 26906412 MGI:106426 RGD:1559505 HGNC:29577 "ENST00000561878.2|NM_145254.3" +HGNC:34244 TMEM170B transmembrane protein 170B protein-coding gene gene with protein product Approved 6p24.2 06p24.2 2008-06-10 2016-10-05 100113407 ENSG00000205269 OTTHUMG00000014259 uc010jpa.5 NM_001100829 CCDS43425 Q5T4T1 MGI:3647046 RGD:1561506 HGNC:34244 "ENST00000379426.2|NM_001100829.3" +HGNC:27031 TMEM171 transmembrane protein 171 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 PRP2 2006-08-18 2021-10-12 134285 ENSG00000157111 OTTHUMG00000131269 uc003kcm.3 BC018083 NM_173490 "CCDS4017|CCDS54869" Q8WVE6 12477932 MGI:2685751 RGD:1359492 HGNC:27031 "ENST00000454765.7|NM_173490.8" +HGNC:28187 TMEM174 transmembrane protein 174 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "MGC13034|FLJ31268" 2006-08-25 2019-03-20 134288 ENSG00000164325 OTTHUMG00000131268 uc010izc.4 BC019346 NM_153217 CCDS4018 Q8WUU8 20331980 MGI:1915594 RGD:1561129 614909 HGNC:28187 "ENST00000296776.6|NM_153217.3" +HGNC:28709 TMEM175 transmembrane protein 175 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 MGC4618 2006-08-29 2020-11-17 84286 ENSG00000127419 OTTHUMG00000118996 uc003gbq.4 BC005158 NM_032326 "CCDS3341|CCDS75088|CCDS75087" Q9BSA9 26317472 MGI:1919642 RGD:1309712 616660 HGNC:28709 "ENST00000264771.9|NM_032326.4" +HGNC:24930 TMEM176A transmembrane protein 176A protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "HCA112|MS4B1" Membrane spanning 4-domains 958 2006-09-04 2019-08-16 55365 ENSG00000002933 OTTHUMG00000158114 uc064jeh.1 AF258340 NM_018487 CCDS5909 Q96HP8 "12097419|8889548|31354034" MGI:1913308 RGD:1310725 610334 HGNC:24930 "ENST00000004103.8|NM_018487.3" +HGNC:29596 TMEM176B transmembrane protein 176B protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "LR8|MS4B2" Membrane spanning 4-domains 958 2006-09-04 2015-06-04 28959 ENSG00000106565 OTTHUMG00000157577 uc003whw.5 AF115384 NM_014020 "CCDS5908|CCDS47746" Q3YBM2 9922225 MGI:1916348 RGD:708403 610385 HGNC:29596 "ENST00000326442.10|NM_001101312.2" +HGNC:28143 TMEM177 transmembrane protein 177 protein-coding gene gene with protein product Approved 2q14.2 02q14.2 MGC10993 Mitochondrial respiratory chain complex assembly factors 645 2006-09-08 2018-06-21 80775 ENSG00000144120 OTTHUMG00000153312 uc010flg.1 BC004404 NM_030577 CCDS2128 Q53S58 29154948 MGI:1913593 RGD:1310320 HGNC:28143 "ENST00000272521.7|NM_030577.3" +HGNC:28517 TMEM178A transmembrane protein 178A protein-coding gene gene with protein product Approved 2p22.1 02p22.1 MGC33926 TMEM178 transmembrane protein 178 2006-09-18 2012-06-29 2012-06-29 2014-11-19 130733 ENSG00000152154 OTTHUMG00000128591 uc002rrt.5 BC029530 NM_152390 CCDS1804 Q8NBL3 12975309 MGI:1915277 RGD:1303057 HGNC:28517 "ENST00000281961.3|NM_152390.3" +HGNC:44112 TMEM178B transmembrane protein 178B protein-coding gene gene with protein product Approved 7q34 07q34 DKFZp547G036 2012-06-29 2012-06-29 100507421 ENSG00000261115 OTTHUMG00000172737 uc003vwg.3 NM_001195278 CCDS59086 H3BS89 MGI:3647581 RGD:1585938 HGNC:44112 "ENST00000565468.6|NM_001195278.2" +HGNC:20137 TMEM179 transmembrane protein 179 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "FLJ42486|TMEM179A" C14orf90 chromosome 14 open reading frame 90 2002-12-18 2006-10-16 2006-10-16 2020-04-20 388021 ENSG00000258986 OTTHUMG00000170829 uc032bmk.2 AK124477 NM_207379 "CCDS73688|CCDS66723" Q6ZVK1 MGI:2144891 RGD:1310269 HGNC:20137 "ENST00000556573.6|NM_001286389.2" +HGNC:33744 TMEM179B transmembrane protein 179B protein-coding gene gene with protein product Approved 11q12.3 11q12.3 MicroRNA protein coding host genes 1691 2007-11-26 2015-09-08 374395 ENSG00000185475 OTTHUMG00000167611 uc001nvd.5 BC051355 NM_199337 CCDS8036 Q7Z7N9 MGI:1914956 RGD:1582850 HGNC:33744 "ENST00000333449.9|NM_199337.3" +HGNC:20958 TMEM181 transmembrane protein 181 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "KIAA1423|GPR178" "G protein-coupled receptor 178|KIAA1423" MicroRNA protein coding host genes 1691 2003-11-21 2006-10-19 2006-10-19 2015-09-08 57583 ENSG00000146433 OTTHUMG00000015913 uc003qrm.5 AB037844 NM_020823 CCDS43520 Q9P2C4 16452613 MGI:1924356 RGD:1566403 613209 HGNC:20958 "ENST00000684151.1|NM_001376852.1" +HGNC:26391 TMEM182 transmembrane protein 182 protein-coding gene gene with protein product Approved 2q12.1 02q12.1 FLJ30294 2006-10-26 2019-03-20 130827 ENSG00000170417 OTTHUMG00000130779 uc002tcc.5 AK054856 NM_144632 "CCDS82490|CCDS2064|CCDS82489" Q6ZP80 18803820 MGI:1923725 RGD:1563696 HGNC:26391 "ENST00000412401.3|NM_144632.5" +HGNC:20173 TMEM183A transmembrane protein 183A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 C1orf37 chromosome 1 open reading frame 37 2002-12-19 2006-12-18 2006-12-18 2020-11-17 92703 ENSG00000163444 OTTHUMG00000042051 uc001gyu.2 BC013073 NM_138391 CCDS1432 Q8IXX5 MGI:1914729 RGD:1309892 HGNC:20173 "ENST00000367242.4|NM_138391.6" +HGNC:33458 TMEM183AP1 transmembrane protein 183A pseudogene 1 pseudogene pseudogene Approved 6p21.3 06p21.3 "BPG126D10.10|OTTHUMG00000086663" 2007-05-01 2014-11-19 100048909 ENSG00000227609 OTTHUMG00000086663 NG_031894 HGNC:33458 +HGNC:33205 TMEM183BP transmembrane protein 183B, pseudogene pseudogene pseudogene Approved 3q25.1 03q25.1 C1orf37-DUP TMEM183B transmembrane protein 183B 2006-12-18 2021-03-08 2021-03-08 2021-03-08 653659 ENSG00000224831 OTTHUMG00000159739 DQ186292 NG_070995 Q1AE95 16644869 MGI:1914729 611365 HGNC:33205 +HGNC:28797 TMEM184A transmembrane protein 184A protein-coding gene gene with protein product Approved 7p22.3 07p22.3 "MGC9712|SDMG1" sexually dimorphic, expressed in male gonads 1 2007-07-11 2016-07-21 202915 ENSG00000164855 OTTHUMG00000119025 uc003skv.4 NM_152689 CCDS43537 Q6ZMB5 18321981 MGI:2385897 RGD:1306702 HGNC:28797 "ENST00000297477.10|NM_001097620.2" +HGNC:1310 TMEM184B transmembrane protein 184B protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "HS5O6A|DKFZP586A1024|FM08" C22orf5 chromosome 22 open reading frame 5 2000-03-29 2007-07-11 2007-07-11 2020-09-17 25829 ENSG00000198792 OTTHUMG00000030557 uc003avg.2 AL096879 NM_012264 CCDS13969 Q9Y519 10591208 MGI:2445179 RGD:1306591 HGNC:1310 "ENST00000361906.8|NM_012264.5" +HGNC:25587 TMEM184C transmembrane protein 184C protein-coding gene gene with protein product Approved 4q31.23 04q31.23 FLJ10846 TMEM34 transmembrane protein 34 2004-07-28 2008-06-05 2008-06-05 2016-10-25 55751 ENSG00000164168 OTTHUMG00000161358 uc003ila.5 AF305823 NM_018241 CCDS3770 Q9NVA4 MGI:2384562 RGD:727852 613937 HGNC:25587 "ENST00000296582.8|NM_018241.3" +HGNC:55544 TMEM184C-DT TMEM184C divergent transcript non-coding RNA RNA, long non-coding Approved 4q31.23 04q31.23 Divergent transcripts 1990 2021-03-24 2021-03-24 121009648 ENSG00000251298 XR_007058316 +HGNC:55010 TMEM184CP1 TMEM184C pseudogene 1 pseudogene pseudogene Approved Xq21.31 Xq21.31 2020-05-21 2020-05-21 100129133 ENSG00000230706 NG_022617 +HGNC:17125 TMEM185A transmembrane protein 185A protein-coding gene gene with protein product Approved Xq28 Xq28 "CXorf13|FAM11A|FRAXF" "chromosome X open reading frame 13|family with sequence similarity 11, member A|fragile site, folic acid type, rare, fra(X)(q28) F" 2001-11-20 2007-02-05 2007-02-05 2020-04-20 84548 ENSG00000269556 OTTHUMG00000022625 uc033ezr.1 AF353675 NM_032508 "CCDS55523|CCDS14689|CCDS76041" Q8NFB2 12404111 MGI:2448555 RGD:1563037 300031 172996 HGNC:17125 "ENST00000600449.8|NM_032508.4" +HGNC:31717 TMEM185AP1 transmembrane protein 185A pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 TMEM185AL "family with sequence similarity 11, member C|transmembrane protein 185A-like" 2005-03-22 2012-04-20 2012-04-20 2020-04-20 100506205 ENSG00000235254 OTTHUMG00000022629 NG_029343 PGOHUM00000257277 HGNC:31717 +HGNC:18896 TMEM185B transmembrane protein 185B protein-coding gene gene with protein product Approved 2q14.2 02q14.2 FLJ20979 FAM11B "family with sequence similarity 11, member B|transmembrane protein 185B (pseudogene)" 2004-01-06 2007-02-05 2011-05-27 2015-09-08 79134 ENSG00000226479 OTTHUMG00000154402 uc002tmj.3 AK024632 NM_024121.2 CCDS58722 Q9H7F4 12404111 MGI:1917634 RGD:1309602 HGNC:18896 "ENST00000426077.3|NM_024121.3" +HGNC:24530 TMEM186 transmembrane protein 186 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 DKFZP564K2062 C16orf51 chromosome 16 open reading frame 51 Mitochondrial respiratory chain complex assembly factors 645 2005-03-10 2007-02-08 2007-02-08 2021-04-30 25880 ENSG00000184857 OTTHUMG00000129696 uc002cze.3 BC015912 NM_015421 CCDS10535 Q96B77 32320651 MGI:1913940 RGD:1561167 HGNC:24530 "ENST00000333050.7|NM_015421.4" +HGNC:13705 TMEM187 transmembrane protein 187 protein-coding gene gene with protein product Approved Xq28 Xq28 "ITBA1|DXS9878E" CXorf12 chromosome X open reading frame 12 MicroRNA protein coding host genes 1691 2000-11-07 2007-03-14 2007-03-14 2020-04-02 8269 ENSG00000177854 OTTHUMG00000024220 uc004fjq.3 X92475 NM_003492 CCDS14739 Q14656 8661027 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TMEM187 300059 HGNC:13705 "ENST00000369982.5|NM_003492.3" +HGNC:29632 TMEM190 transmembrane protein 190 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MDAC1 2007-07-31 2020-04-01 147744 ENSG00000160472 OTTHUMG00000180794 uc002qkt.1 AF442729 NM_139172 CCDS33113 Q8WZ59 21273369 MGI:1925302 RGD:1583927 HGNC:29632 "ENST00000291934.4|NM_139172.3" +HGNC:25317 TMEM191A transmembrane protein 191A (pseudogene) pseudogene pseudogene Approved 22q11.21 22q11.21 "DKFZp434N035|TMEM191AP" transmembrane protein 191A 2007-08-14 2012-04-20 2014-11-19 84222 ENSG00000226287 OTTHUMG00000150164 uc002zsx.2 AL136879 NR_026815 Q9H0A3 11230166 HGNC:25317 +HGNC:33600 TMEM191B transmembrane protein 191B protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2007-08-14 2020-04-01 728229 ENSG00000278558 OTTHUMG00000188353 uc021wlv.2 NM_001242313 CCDS74816 P0C7N4 HGNC:33600 "ENST00000612978.5|NM_001242313.1" +HGNC:33601 TMEM191C transmembrane protein 191C protein-coding gene gene with protein product Approved 22q11.21 22q11.21 2007-08-14 2016-07-19 645426 ENSG00000206140 OTTHUMG00000150780 uc002zuu.3 NM_001207052 CCDS82695 A6NGB0 MGI:107238 RGD:1587016 HGNC:33601 "ENST00000536718.3|NM_001388354.1" +HGNC:26775 TMEM192 transmembrane protein 192 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 FLJ38482 2007-10-25 2019-03-20 201931 ENSG00000170088 OTTHUMG00000161254 uc003iqz.5 BC036301 NM_152681 CCDS43279 Q8IY95 "20370317|21143193" MGI:1920317 RGD:1309341 HGNC:26775 "ENST00000306480.11|NM_001100389.2" +HGNC:22431 TMEM196 transmembrane protein 196 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 MGC42090 2007-11-21 2016-10-05 256130 ENSG00000173452 OTTHUMG00000152504 uc011jyg.3 NM_152774 "CCDS87484|CCDS34607" Q5HYL7 MGI:2685374 RGD:1562527 HGNC:22431 "ENST00000405844.6|NM_001363562.2" +HGNC:33704 TMEM198 transmembrane protein 198 protein-coding gene gene with protein product Approved 2q35 02q35 "MGC99813|TMEM198A" 2007-12-17 2014-11-19 130612 ENSG00000188760 OTTHUMG00000059156 uc002vme.5 BC068567 NM_001005209 CCDS33385 Q66K66 MGI:2443133 RGD:2319152 HGNC:33704 "ENST00000373883.4|NM_001005209.3" +HGNC:43629 TMEM198B transmembrane protein 198B (pseudogene) pseudogene pseudogene Approved 12q13.2 12q13.2 transmembrane protein 198, pseudogene 2011-12-06 2016-01-06 2016-01-06 440104 ENSG00000182796 OTTHUMG00000154568 NR_036476 MGI:1921077 HGNC:43629 +HGNC:18085 TMEM199 transmembrane protein 199 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "MGC45714|VPH2|VMA12" C17orf32 chromosome 17 open reading frame 32 MicroRNA protein coding host genes 1691 2002-01-30 2007-12-17 2007-12-17 2020-04-20 147007 ENSG00000244045 OTTHUMG00000132498 uc002hba.4 AY074907 NM_152464 CCDS11228 Q8N511 26833330 MGI:2144113 RGD:1566425 616815 471234 HGNC:18085 "ENST00000292114.8|NM_152464.3" HGNC:18085 +HGNC:21075 TMEM200A transmembrane protein 200A protein-coding gene gene with protein product Approved 6q23.1 06q23.1 TTMC KIAA1913 KIAA1913 2003-11-21 2007-12-18 2007-12-18 2015-08-26 114801 ENSG00000164484 OTTHUMG00000015557 uc003qca.5 AB067500 NM_052913 CCDS5140 Q86VY9 15722956 MGI:1924470 RGD:1564024 HGNC:21075 "ENST00000296978.4|NM_001258277.2" +HGNC:33785 TMEM200B transmembrane protein 200B protein-coding gene gene with protein product Approved 1p35.3 01p35.3 TTMB 2007-12-18 2016-10-05 399474 ENSG00000253304 OTTHUMG00000003658 uc001brn.3 NM_001003682 CCDS30658 Q69YZ2 15722956 MGI:3646343 RGD:1585251 HGNC:33785 "ENST00000521452.2|NM_001003682.4" +HGNC:37208 TMEM200C transmembrane protein 200C protein-coding gene gene with protein product Approved 18p11.31 18p11.31 TTMA 2009-09-08 2009-09-08 645369 ENSG00000206432 OTTHUMG00000178423 uc060nbn.1 NM_001080209 CCDS45825 A6NKL6 15722956 MGI:3646281 RGD:1561734 HGNC:37208 +HGNC:33719 TMEM201 transmembrane protein 201 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "RP13-15M17.2|NET5|Ima1|SAMP1" spindle associated membrane protein 1 2007-12-18 2016-07-26 199953 ENSG00000188807 OTTHUMG00000057457 uc021ofy.2 NM_001010866 "CCDS30579|CCDS44055" Q5SNT2 "19494128|21327071" MGI:1196277 RGD:1583947 HGNC:33719 "ENST00000340381.11|NM_001130924.3" +HGNC:33733 TMEM202 transmembrane protein 202 protein-coding gene gene with protein product Approved 15q23-q24.1 15q23-q24.1 FLJ27523 2007-12-18 2018-02-13 338949 ENSG00000187806 OTTHUMG00000172716 uc002auq.4 NM_001080462 CCDS32287 A6NGA9 MGI:1921143 RGD:1585107 HGNC:33733 "ENST00000341689.4|NM_001080462.3" +HGNC:53265 TMEM202-AS1 TMEM202 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 Antisense RNAs 1987 2017-03-22 2017-03-22 105370888 ENSG00000261423 OTTHUMG00000173055 NR_135678 HGNC:53265 +HGNC:28217 TMEM203 transmembrane protein 203 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "MGC14327|HBEBP1" HBeAg-binding protein 1 2007-12-18 2019-03-20 94107 ENSG00000187713 OTTHUMG00000020985 uc004clv.4 BC009283 NM_053045 CCDS35185 Q969S6 25996873 MGI:2443597 RGD:1306304 616499 HGNC:28217 "ENST00000343666.6|NM_053045.2" +HGNC:14158 TMEM204 transmembrane protein 204 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ20898|CLP24" claudin-like protein of 24 kDa C16orf30 chromosome 16 open reading frame 30 2000-12-21 2008-01-08 2008-01-08 2020-04-01 79652 ENSG00000131634 OTTHUMG00000176585 uc002cmc.4 NM_024600 CCDS42098 Q9BSN7 15206924 MGI:3039635 RGD:1359314 611002 HGNC:14158 "ENST00000566264.2|NM_024600.6" +HGNC:29631 TMEM205 transmembrane protein 205 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "UNQ501|MBC3205" 2008-01-09 2020-04-01 374882 ENSG00000105518 OTTHUMG00000182021 uc060tql.1 AK127147 NM_198536 CCDS32909 Q6UW68 12975309 MGI:3045495 RGD:1563250 613771 HGNC:29631 "ENST00000354882.10|NM_198536.3" +HGNC:33705 TMEM207 transmembrane protein 207 protein-coding gene gene with protein product Approved 3q28 03q28 2008-02-18 2015-08-26 131920 ENSG00000198398 OTTHUMG00000156213 uc003fsj.4 BC071780 NM_207316 CCDS3297 Q6UWW9 MGI:2685386 RGD:2322856 614786 HGNC:33705 "ENST00000354905.3|NM_207316.3" +HGNC:25015 TMEM208 transmembrane protein 208 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "HSPC171|hSND2" SRP-independent targeting 2 homolog 2008-02-22 2020-10-30 29100 ENSG00000168701 OTTHUMG00000173064 uc002esi.3 NM_014187 "CCDS45511|CCDS81996" Q9BTX3 "23691174|28862756|32002553" MGI:1913570 RGD:1560953 HGNC:25015 "ENST00000304800.14|NM_014187.4" +HGNC:21898 TMEM209 transmembrane protein 209 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "FLJ14803|NET31" 2008-02-26 2015-08-26 84928 ENSG00000146842 OTTHUMG00000157653 uc003vpn.2 NM_032842 "CCDS47712|CCDS75661|CCDS87547" Q96SK2 12958361 MGI:1919899 RGD:1309682 HGNC:21898 "ENST00000397622.7|NM_032842.4" +HGNC:34059 TMEM210 transmembrane protein 210 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 2008-04-04 2020-04-20 100505993 ENSG00000185863 OTTHUMG00000020981 uc033dlm.2 NM_001282477 CCDS65197 A6NLX4 MGI:1925467 RGD:2318321 HGNC:34059 "ENST00000413619.3|NM_001282477.2" +HGNC:34295 TMEM212 transmembrane protein 212 protein-coding gene gene with protein product Approved 3q26.31 03q26.31 FLJ23172 2008-06-10 2020-04-20 389177 ENSG00000186329 OTTHUMG00000156839 uc003fhw.2 NM_001164436 CCDS46958 A6NML5 MGI:2685410 RGD:1563109 HGNC:34295 "ENST00000334567.9|NM_001164436.2" +HGNC:41939 TMEM212-AS1 TMEM212 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q26.31 03q26.31 TMEM212 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2014-11-19 100874219 ENSG00000234717 OTTHUMG00000156879 uc062pzb.1 NR_046852 TMEM212-AS1 HGNC:41939 +HGNC:41505 TMEM212-IT1 TMEM212 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3q26.31 03q26.31 TMEM212 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874359 ENSG00000235943 OTTHUMG00000156878 uc062pzc.1 TMEM212-IT1 +HGNC:27220 TMEM213 transmembrane protein 213 protein-coding gene gene with protein product Approved 7q34 07q34 2008-06-10 2015-08-26 155006 ENSG00000214128 OTTHUMG00000157182 uc010lna.5 NM_001085429 CCDS47722 A2RRL7 MGI:1924772 RGD:1588740 HGNC:27220 "ENST00000442682.7|NM_001085429.2" +HGNC:25983 TMEM214 transmembrane protein 214 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 FLJ20254 2008-06-10 2015-08-26 54867 ENSG00000119777 OTTHUMG00000151999 uc002ria.5 NM_017727 "CCDS42664|CCDS46242" Q6NUQ4 23661706 MGI:1916046 RGD:1311324 615301 HGNC:25983 "ENST00000238788.14|NM_017727.5" +HGNC:33816 TMEM215 transmembrane protein 215 protein-coding gene gene with protein product Approved 9p21.1 09p21.1 2008-06-10 2015-08-26 401498 ENSG00000188133 OTTHUMG00000129521 uc003zri.5 NM_212558 CCDS6530 Q68D42 MGI:2444167 RGD:1589861 HGNC:33816 "ENST00000342743.6|NM_212558.3" +HGNC:25018 TMEM216 transmembrane protein 216 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "MGC13379|HSPC244|JBTS2" "CORS2|MKS2" "cerebello-oculo-renal syndrome 2|Meckel syndrome, type 2" 2008-06-10 2021-04-13 51259 ENSG00000187049 OTTHUMG00000168146 uc010rlj.3 NM_016499 "CCDS86205|CCDS81570|CCDS53640" Q9P0N5 "11042152|20036350|20512146" MGI:1920020 RGD:1304607 LRG_698|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_698.xml 613277 221342 HGNC:25018 "ENST00000515837.7|NM_001173990.3" HGNC:25018 +HGNC:21238 TMEM217 transmembrane protein 217 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 dJ355M6.2 C6orf128 chromosome 6 open reading frame 128 2003-05-29 2008-07-07 2008-07-07 2016-10-05 221468 ENSG00000172738 OTTHUMG00000014618 uc010jwr.5 NM_145316 "CCDS4831|CCDS69102" Q8N7C4 MGI:3646280 RGD:1585322 HGNC:21238 +HGNC:55922 TMEM217B transmembrane protein 217B protein-coding gene gene with protein product Approved 6p21.2 06p21.2 2021-10-15 2021-10-15 121725057 ENSG00000286105 NM_001395377 A0A494BZU4 MGI:4937291 +HGNC:27344 TMEM218 transmembrane protein 218 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 2008-06-10 2015-08-26 219854 ENSG00000150433 OTTHUMG00000165880 uc058itc.1 NM_001080546 CCDS31715 A2RU14 MGI:1913529 RGD:1311364 619285 HGNC:27344 "ENST00000682305.1|NM_001258244.2" +HGNC:25201 TMEM219 transmembrane protein 219 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 IGFBP-3R 2008-06-10 2017-10-16 124446 ENSG00000149932 OTTHUMG00000177105 uc002duw.3 NM_001083613 CCDS42145 Q86XT9 20353938 MGI:1915992 RGD:1560566 HGNC:25201 "ENST00000279396.11|NM_001083613.2" +HGNC:33757 TMEM220 transmembrane protein 220 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 2008-06-10 2014-11-19 388335 ENSG00000187824 OTTHUMG00000178043 uc002gmx.4 NM_001004313 "CCDS32567|CCDS82074|CCDS82075" Q6QAJ8 MGI:2443691 RGD:1309576 HGNC:33757 "ENST00000341871.8|NM_001004313.3" +HGNC:44357 TMEM220-AS1 TMEM220 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.1-p12 17p13.1-p12 Antisense RNAs 1987 2012-08-17 2018-02-13 101101775 ENSG00000263400 OTTHUMG00000178046 uc031qza.2 DA190285 NR_073455 TMEM220-AS1 HGNC:44357 +HGNC:21943 TMEM221 transmembrane protein 221 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 2008-06-11 2015-08-26 100130519 ENSG00000188051 OTTHUMG00000182858 uc021uqh.1 NM_001190844 CCDS54230 A6NGB7 MGI:3525074 RGD:2319149 HGNC:21943 "ENST00000341130.6|NM_001190844.2" +HGNC:25363 TMEM222 transmembrane protein 222 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DKFZP564D0478 C1orf160 chromosome 1 open reading frame 160 2005-07-15 2008-07-07 2008-07-07 2014-11-19 84065 ENSG00000186501 OTTHUMG00000004410 uc001bnr.5 AL136683 NM_032125 CCDS297 Q9H0R3 11230166 MGI:1098568 RGD:1304793 619469 HGNC:25363 "ENST00000374076.9|NM_032125.3" +HGNC:28464 TMEM223 transmembrane protein 223 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 MGC3196 2008-12-08 2022-01-06 79064 ENSG00000168569 OTTHUMG00000167693 uc001nve.3 NM_001080501 CCDS44628 A0PJW6 34969438 MGI:1914086 RGD:1582829 HGNC:28464 "ENST00000307366.8|NM_001080501.3" +HGNC:32390 TMEM225 transmembrane protein 225 protein-coding gene gene with protein product Approved 11q24.1 11q24.1 "PMP22CD|PPP1R154|SPATA47" "PMP22 claudin domain containing|protein phosphatase 1, regulatory subunit 154|spermatogenesis associated 47" Protein phosphatase 1 regulatory subunits 694 2009-03-11 2017-02-09 338661 ENSG00000204300 OTTHUMG00000165959 uc001pzi.4 AY634366 NM_001013743 CCDS31697 Q6GV28 25605614 MGI:1922917 RGD:1562358 HGNC:32390 "ENST00000375026.7|NM_001013743.3" +HGNC:53075 TMEM225B transmembrane protein 225B protein-coding gene gene with protein product Approved 7q22.1 07q22.1 2017-02-09 2017-02-09 100289187 ENSG00000244219 OTTHUMG00000156636 NM_001195541 CCDS87525 P0DP42 HGNC:53075 "ENST00000431679.6|NM_001195541.3" +HGNC:37279 TMEM229A transmembrane protein 229A protein-coding gene gene with protein product Approved 7q31.32 07q31.32 2009-09-22 2015-08-26 730130 ENSG00000234224 OTTHUMG00000154762 uc011kob.3 BC157828 NM_001136002 CCDS47694 B2RXF0 MGI:2442812 RGD:1590212 HGNC:37279 "ENST00000455783.3|NM_001136002.2" +HGNC:20130 TMEM229B transmembrane protein 229B protein-coding gene gene with protein product Approved 14q23.3-q24.1 14q23.3-q24.1 FLJ33387 C14orf83 chromosome 14 open reading frame 83 2002-12-18 2009-09-22 2009-09-22 2020-04-20 161145 ENSG00000198133 OTTHUMG00000171270 uc059cpm.1 AK090706 NM_182526 CCDS9783 Q8NBD8 MGI:2444389 RGD:1562622 619022 HGNC:20130 "ENST00000554480.6|NM_001348543.2" +HGNC:15876 TMEM230 transmembrane protein 230 protein-coding gene gene with protein product Approved 20p13-p12.3 20p13-p12.3 HSPC274 C20orf30 chromosome 20 open reading frame 30 2001-06-21 2012-03-16 2012-03-16 2018-02-13 29058 ENSG00000089063 OTTHUMG00000031796 uc002wlm.4 AF161392 NM_001009923 "CCDS33438|CCDS13086|CCDS82597" Q96A57 27270108 MGI:1917862 RGD:1307399 617019 HGNC:15876 "ENST00000342308.10|NM_001009923.2" HGNC:15876 +HGNC:55043 TMEM230P1 TMEM230 pseudogene 1 pseudogene pseudogene Approved Xq22.3 Xq22.3 2020-06-03 2020-06-11 2020-06-11 117981795 ENSG00000225728 NG_070710 +HGNC:55044 TMEM230P2 TMEM230 pseudogene 2 pseudogene pseudogene Approved 11q12.1 11q12.1 2020-06-03 2020-06-11 2020-06-11 642975 ENSG00000238041 NG_030174 +HGNC:37234 TMEM231 transmembrane protein 231 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "FLJ22167|ALYE870|PRO1886|JBTS20|MKS11" MKS complex 1545 2009-10-02 2014-11-19 79583 ENSG00000205084 OTTHUMG00000177132 uc002fem.5 NM_001077416 CCDS45530 Q9H6L2 "23012439|23349226" MGI:2685024 RGD:1306153 614949 321364 HGNC:37234 "ENST00000258173.11|NM_001077418.3" HGNC:37234 +HGNC:53870 TMEM231P1 TMEM231 pseudogene 1 pseudogene pseudogene Approved 16q23.1 16q23.1 2018-05-01 2018-05-01 100420067 ENSG00000262583 OTTHUMG00000177130 NG_026383 PGOHUM00000293663 HGNC:53870 +HGNC:37270 TMEM232 transmembrane protein 232 protein-coding gene gene with protein product Approved 5q22.1 05q22.1 FLJ43080 MicroRNA protein coding host genes 1691 2009-10-02 2009-10-02 2016-04-25 642987 ENSG00000186952 OTTHUMG00000163297 uc011cvh.4 AK125070 NM_001039763 CCDS47253 C9JQI7 MGI:2685786 RGD:1559548 HGNC:37270 "ENST00000455884.7|NM_001039763.4" +HGNC:37219 TMEM233 transmembrane protein 233 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "IFITMD2|DSPB2" "interferon induced transmembrane protein domain containing 2|dispanin subfamily B member 2" interferon induced transmembrane protein domain containing 1600 2009-10-16 2018-03-08 387890 ENSG00000224982 OTTHUMG00000168944 uc010szd.2 NM_001136534 CCDS44995 B4DJY2 MGI:3651514 RGD:1597489 618296 HGNC:37219 "ENST00000426426.3|NM_001136534.3" +HGNC:28837 TMEM234 transmembrane protein 234 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "RP4-622L5|dJ622L5.7|FLJ90779" C1orf91 chromosome 1 open reading frame 91 2005-05-27 2011-02-14 2011-02-14 2019-03-20 56063 ENSG00000160055 OTTHUMG00000005742 uc001buq.4 AY358586 NM_019118 CCDS356 Q8WY98 26377798 MGI:1924049 RGD:1583487 HGNC:28837 "ENST00000309777.11|NM_019118.5" +HGNC:27563 TMEM235 transmembrane protein 235 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 2011-01-31 2011-02-18 2011-02-18 2015-09-08 283999 ENSG00000204278 OTTHUMG00000170345 uc021ued.2 BC042066 NM_001204211 "CCDS56046|CCDS56047|CCDS56048" A6NFC5 21689651 MGI:3651706 RGD:1591141 HGNC:27563 +HGNC:23473 TMEM236 transmembrane protein 236 protein-coding gene gene with protein product Approved 10p12.33 10p12.33 "bA16O1.2|bA162I21.2" "FAM23B|FAM23A" "family with sequence similarity 23, member B|family with sequence similarity 23, member A" 2004-05-27 2011-04-19 2011-04-19 2015-08-26 653567 ENSG00000148483 OTTHUMG00000017753 uc009xjx.5 NM_001098844 CCDS41492 Q5W0B7 MGI:1919309 RGD:1590637 HGNC:23473 "ENST00000377495.2|NM_001098844.3" +HGNC:14432 TMEM237 transmembrane protein 237 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 JBTS14 ALS2CR4 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4 2001-01-26 2011-05-20 2011-05-20 2016-10-05 65062 ENSG00000155755 OTTHUMG00000154526 uc061rky.1 AB053301 NM_152388 "CCDS46490|CCDS46489" Q96Q45 "11586298|20375344" MGI:2138365 RGD:1306705 614423 286631 HGNC:14432 "ENST00000409883.7|NM_001044385.3" HGNC:14432 +HGNC:40042 TMEM238 transmembrane protein 238 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 2011-08-15 2015-08-26 388564 ENSG00000233493 OTTHUMG00000180795 uc002qku.4 NM_001190764 CCDS54323 C9JI98 MGI:1922935 RGD:1565210 HGNC:40042 "ENST00000444469.4|NM_001190764.2" +HGNC:44356 TMEM238L transmembrane protein 238 like protein-coding gene gene with protein product Approved 17p13.1-p12 17p13.1-p12 FORCP FOXA1-Regulated Conserved Small Protein LINC00675 long intergenic non-protein coding RNA 675 2012-08-17 2017-08-11 2017-08-11 2021-01-28 100289255 ENSG00000263429 OTTHUMG00000132847 uc002gmz.3 BC015790 NM_001388428 A6NJY4 33112233 MGI:1918826 LINC00675 HGNC:44356 +HGNC:40044 TMEM239 transmembrane protein 239 protein-coding gene gene with protein product Approved 20p13 20p13 2011-08-15 2016-11-10 100288797 ENSG00000198326 OTTHUMG00000031713 uc002wgx.3 NM_001167670 "CCDS82595|CCDS54444" Q8WW34 MGI:1914016 RGD:1592450 HGNC:40044 "ENST00000380585.2|NM_001167670.3" +HGNC:25186 TMEM240 transmembrane protein 240 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "C1orf70|SCA21" "chromosome 1 open reading frame 70|spinocerebellar ataxia 21" 2005-05-18 2011-11-25 2011-11-25 2015-08-26 339453 ENSG00000205090 OTTHUMG00000042193 uc057bfw.1 NM_001114748 CCDS44040 Q5SV17 "12402269|25070513" MGI:3648074 RGD:2318117 616101 412653 HGNC:25186 "ENST00000378733.9|NM_001114748.2" HGNC:25186 +HGNC:31723 TMEM241 transmembrane protein 241 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "MGC11386|FLJ44259" C18orf45 chromosome 18 open reading frame 45 2005-01-11 2011-11-25 2011-11-25 2019-03-20 85019 ENSG00000134490 OTTHUMG00000131771 uc002kuf.4 BC082984 NM_032933 CCDS11876 Q24JQ0 27199446 MGI:2442435 RGD:1590602 615430 HGNC:31723 "ENST00000383233.8|NM_032933.6" +HGNC:17206 TMEM242 transmembrane protein 242 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 BM033 C6orf35 chromosome 6 open reading frame 35 2001-11-20 2011-11-25 2011-11-25 2022-01-07 729515 ENSG00000215712 OTTHUMG00000015893 uc003sih.5 AF217510 NM_018452 CCDS43519 Q9NWH2 33753518 MGI:1917794 RGD:1307262 HGNC:17206 "ENST00000400788.9|NM_018452.6" +HGNC:55260 TMEM242-DT TMEM242 divergent transcript non-coding RNA RNA, long non-coding Approved 6q25.3 06q25.3 Divergent transcripts 1990 2020-09-25 2020-09-25 118732303 ENSG00000271040 +HGNC:21707 TMEM243 transmembrane protein 243 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 "MGC4175|MM-TRAG" MDR1 and mitochondrial taxol resistance associated gene C7orf23 "chromosome 7 open reading frame 23|transmembrane protein 243, mitochondrial" 2003-07-14 2012-12-03 2015-11-26 2015-11-26 79161 ENSG00000135185 OTTHUMG00000130823 uc064fad.1 NM_024315 CCDS5602 Q9BU79 MGI:3606159 RGD:1562351 616993 HGNC:21707 "ENST00000257637.8|NM_024315.4" +HGNC:21571 TMEM244 transmembrane protein 244 protein-coding gene gene with protein product Approved 6q22.33 06q22.33 bA174C7.4 C6orf191 chromosome 6 open reading frame 191 2003-11-26 2012-02-21 2012-02-21 2014-11-19 253582 ENSG00000203756 OTTHUMG00000015553 uc063rhh.1 NM_001010876 CCDS34536 Q5VVB8 HGNC:21571 "ENST00000368143.6|NM_001010876.2" +HGNC:1363 TMEM245 transmembrane protein 245 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 CG-2 C9orf5 chromosome 9 open reading frame 5 MicroRNA protein coding host genes 1691 1999-06-02 2012-03-06 2012-03-06 2020-09-17 23731 ENSG00000106771 OTTHUMG00000020469 uc004bdt.5 AF153415 NM_032012 CCDS43858 Q9H330 10564813 MGI:2445107 RGD:1308958 HGNC:1363 "ENST00000374586.8|NM_032012.4" +HGNC:51191 TMEM246-AS1 TMEM246 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q31.1 09q31.1 Antisense RNAs 1987 2014-08-01 2014-08-01 101928470 ENSG00000225376 OTTHUMG00000020380 NR_121573 TMEM246-AS1 HGNC:51191 +HGNC:42967 TMEM247 transmembrane protein 247 protein-coding gene gene with protein product Approved 2p21 02p21 2012-04-11 2017-10-25 388946 ENSG00000284701 OTTHUMG00000153137 uc061ivl.2 NM_001145051 CCDS56117 A6NEH6 MGI:1925719 RGD:1588160 HGNC:42967 +HGNC:25476 TMEM248 transmembrane protein 248 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "FLJ10099|FLJ13090" C7orf42 chromosome 7 open reading frame 42 2006-08-08 2012-05-30 2012-05-30 2014-11-19 55069 ENSG00000106609 OTTHUMG00000129553 uc003tvk.4 NM_017994 CCDS5536 Q9NWD8 12477932 MGI:1918917 RGD:1303319 HGNC:25476 "ENST00000341567.8|NM_017994.5" +HGNC:44053 TMEM248P1 transmembrane protein 248 pseudogene 1 pseudogene pseudogene Approved 4q28.1 04q28.1 2012-05-30 2012-05-30 645841 ENSG00000249555 OTTHUMG00000161145 NG_022036 PGOHUM00000245693 HGNC:44053 +HGNC:44155 TMEM249 transmembrane protein 249 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 C8orfK29 2012-07-02 2015-09-08 340393 ENSG00000261587 OTTHUMG00000165167 uc011llb.4 NM_001252402 CCDS59117 Q2WGJ8 MGI:3647471 RGD:6496784 HGNC:44155 +HGNC:31009 TMEM250 transmembrane protein 250 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 bA83N9.1 C9orf69 chromosome 9 open reading frame 69 2004-05-27 2017-03-10 2017-03-10 2017-03-10 90120 ENSG00000238227 OTTHUMG00000020922 uc004cgx.6 NM_152833 CCDS59155 H0YL14 21667337 RGD:1564379 HGNC:31009 "ENST00000418388.6|NM_152833.3" +HGNC:20218 TMEM251 transmembrane protein 251 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 DKFZP564F1123 C14orf109 chromosome 14 open reading frame 109 2003-01-15 2012-07-18 2012-07-18 2015-08-26 26175 ENSG00000153485 OTTHUMG00000171265 uc001ybk.4 NM_001098621 CCDS41980 Q8N6I4 MGI:2443862 RGD:1566396 619332 HGNC:20218 "ENST00000415050.3|NM_001098621.4" +HGNC:52396 TMEM251P1 transmembrane protein 251 pseudogene 1 pseudogene pseudogene Approved 5q14.3 05q14.3 2016-09-21 2016-09-21 100420909 ENSG00000249514 OTTHUMG00000162666 NG_024610 PGOHUM00000300666 HGNC:52396 +HGNC:28537 TMEM252 transmembrane protein 252 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 MGC34760 C9orf71 chromosome 9 open reading frame 71 2004-01-05 2012-07-19 2012-07-19 2016-10-05 169693 ENSG00000181778 OTTHUMG00000019967 uc004agt.4 BC029780 NM_153237 CCDS35040 Q8N6L7 12477932 MGI:3583948 RGD:1359349 HGNC:28537 "ENST00000377311.4|NM_153237.2" +HGNC:54377 TMEM252-DT TMEM252 divergent transcript non-coding RNA RNA, long non-coding Approved 9q21.11 09q21.11 Divergent transcripts 1990 2019-05-17 2019-05-17 105376072 ENSG00000226337 XR_001746701 HGNC:54377 +HGNC:32545 TMEM253 transmembrane protein 253 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "NCRNA00220|C14orf95|C14orf176" "non-protein coding RNA 220|chromosome 14 open reading frame 95|chromosome 14 open reading frame 176" 2006-03-09 2012-10-24 2012-10-24 2018-11-19 643382 ENSG00000232070 OTTHUMG00000171361 uc010tlo.2 NM_001146683 CCDS53884 P0C7T8 MGI:3588246 RGD:1597322 HGNC:32545 +HGNC:25804 TMEM254 transmembrane protein 254 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "FLJ13263|bA369J21.6" C10orf57 chromosome 10 open reading frame 57 2004-05-04 2012-11-06 2012-11-06 2016-10-05 80195 ENSG00000133678 OTTHUMG00000018602 uc001kbl.5 BC022252 NM_025125 "CCDS58086|CCDS7363|CCDS73157|CCDS58087" Q8TBM7 14702039 "MGI:1196450|MGI:3710397|MGI:3711260" RGD:1305689 HGNC:25804 "ENST00000372281.8|NM_025125.4" +HGNC:27340 TMEM254-AS1 TMEM254 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 CPHX Antisense RNAs 1987 2012-11-06 2021-10-14 219347 ENSG00000230091 OTTHUMG00000018601 uc001kbi.5 NR_027428 21110847 TMEM254-AS1 HGNC:27340 +HGNC:26086 TMEM255A transmembrane protein 255A protein-coding gene gene with protein product Approved Xq24 Xq24 FLJ20716 FAM70A family with sequence similarity 70, member A 2005-08-05 2012-11-30 2012-11-30 2014-11-19 55026 ENSG00000125355 OTTHUMG00000022298 uc010nqo.4 BC047054 NM_017938 "CCDS43986|CCDS14597|CCDS48157" Q5JRV8 12477932 MGI:3045722 RGD:727788 HGNC:26086 "ENST00000371369.9|NM_001104544.3" +HGNC:28297 TMEM255B transmembrane protein 255B protein-coding gene gene with protein product Approved 13q34 13q34 MGC20579 FAM70B family with sequence similarity 70, member B 2005-08-05 2012-11-30 2012-11-30 2015-09-08 348013 ENSG00000184497 OTTHUMG00000017398 uc001vuh.4 BC018995 NM_182614 CCDS45071 Q8WV15 12477932 MGI:2685533 RGD:1566042 HGNC:28297 "ENST00000375353.5|NM_182614.4" +HGNC:28618 TMEM256 transmembrane protein 256 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 MGC40107 C17orf61 chromosome 17 open reading frame 61 2005-12-16 2012-12-03 2012-12-03 2014-11-18 254863 ENSG00000205544 OTTHUMG00000132900 uc002ggs.4 BC030270 NM_152766 CCDS11102 Q8N2U0 12477932 MGI:1916436 RGD:1563438 617779 HGNC:28618 "ENST00000302422.4|NM_152766.5" +HGNC:49186 TMEM256-PLSCR3 TMEM256-PLSCR3 readthrough (NMD candidate) other readthrough Approved 17p13.1 17p13.1 2013-09-25 2016-11-10 100529211 ENSG00000262481 OTTHUMG00000178150 NR_037719 HGNC:49186 +HGNC:45087 TMEM256P1 transmembrane protein 256 pseudogene 1 pseudogene pseudogene Approved 10q22.1 10q22.1 2013-02-08 2013-02-08 645269 ENSG00000233197 OTTHUMG00000018382 NG_028106 PGOHUM00000238517 HGNC:45087 +HGNC:45088 TMEM256P2 transmembrane protein 256 pseudogene 2 pseudogene pseudogene Approved 2q36.1 02q36.1 2013-02-08 2013-02-08 106479054 ENSG00000226726 OTTHUMG00000154498 NG_045177 PGOHUM00000241116 HGNC:45088 +HGNC:1164 TMEM258 transmembrane protein 258 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "Kuduk|Kud" C11orf10 chromosome 11 open reading frame 10 "Oligosaccharyltransferase complex subunits|MicroRNA protein coding host genes" "445|1691" 1998-07-30 2012-12-03 2012-12-03 2020-10-30 746 ENSG00000134825 OTTHUMG00000168172 uc001nsf.4 NM_014206 CCDS8009 P61165 "27974209|28716842" MGI:1916288 RGD:1560328 617615 HGNC:1164 "ENST00000537328.6|NM_014206.4" +HGNC:17039 TMEM259 transmembrane protein 259 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC4022|ASBABP1|MBRL" "membralin|aspecific BCL2 ARE-binding protein 1" C19orf6 chromosome 19 open reading frame 6 2003-05-02 2013-02-06 2013-02-06 2014-11-18 91304 ENSG00000182087 OTTHUMG00000181905 uc002lqs.2 BC008957 NM_033420 "CCDS12052|CCDS32862" Q4ZIN3 "12638133|16084606" MGI:2177957 RGD:1311136 611011 HGNC:17039 "ENST00000356663.8|NM_001033026.2" +HGNC:20185 TMEM260 transmembrane protein 260 protein-coding gene gene with protein product Approved 14q22.3 14q22.3 FLJ20392 C14orf101 chromosome 14 open reading frame 101 2002-12-20 2013-03-08 2013-03-08 2019-10-25 54916 ENSG00000070269 OTTHUMG00000152337 uc001xcm.4 AK000399 NM_017799 CCDS9727 Q9NX78 28318500 MGI:2443219 RGD:1562018 617449 HGNC:20185 "ENST00000261556.11|NM_017799.4" HGNC:20185 +HGNC:49389 TMEM262 transmembrane protein 262 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 2013-11-07 2013-11-07 100130348 ENSG00000187066 OTTHUMG00000165598 NM_001282448 CCDS60845 E9PQX1 MGI:3690536 RGD:2318452 HGNC:49389 "ENST00000530719.6|NM_001282448.2" +HGNC:28281 TMEM263 transmembrane protein 263 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 MGC17943 C12orf23 chromosome 12 open reading frame 23 2005-12-22 2014-03-19 2014-03-19 2018-07-10 90488 ENSG00000151135 OTTHUMG00000170014 NM_152261 CCDS9110 Q8WUH6 29930570 MGI:2143652 RGD:1563325 HGNC:28281 "ENST00000280756.9|NM_152261.4" +HGNC:55395 TMEM263-DT TMEM263 divergent transcript non-coding RNA RNA, long non-coding Approved 12q23.3 12q23.3 Divergent transcripts 1990 2020-12-21 2020-12-21 119863870 ENSG00000260329 +HGNC:51241 TMEM265 transmembrane protein 265 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2015-01-20 2019-08-20 100862671 ENSG00000281991 OTTHUMG00000191414 NM_001256829 CCDS73870 A0A087WTH1 MGI:5613213 RGD:7523242 HGNC:51241 "ENST00000615541.3|NM_001256829.2" +HGNC:26763 TMEM266 transmembrane protein 266 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 FLJ38190 C15orf27 chromosome 15 open reading frame 27 2004-06-29 2015-10-06 2015-10-06 2016-10-05 123591 ENSG00000169758 OTTHUMG00000142918 AK095509 NM_152335 CCDS10289 Q2M3C6 "14702039|22020278" MGI:2142980 RGD:1562084 618691 HGNC:26763 "ENST00000388942.8|NM_152335.3" +HGNC:26139 TMEM267 transmembrane protein 267 protein-coding gene gene with protein product Approved 5p12 05p12 FLJ21657 C5orf28 chromosome 5 open reading frame 28 2006-08-11 2016-05-17 2016-05-17 2016-05-17 64417 ENSG00000151881 OTTHUMG00000131150 uc003jnx.4 AK025310 NM_022483 CCDS3945 Q0VDI3 12477932 MGI:3648543 RGD:1562550 HGNC:26139 "ENST00000397080.8|NM_022483.5" +HGNC:24513 TMEM268 transmembrane protein 268 protein-coding gene gene with protein product Approved 9q32 09q32 "DKFZp547P234|FLJ38045" C9orf91 chromosome 9 open reading frame 91 2004-02-24 2016-06-20 2016-06-20 2016-10-05 203197 ENSG00000157693 OTTHUMG00000020541 uc004bjd.5 BX649023 NM_153045 "CCDS6808|CCDS83405" Q5VZI3 14702039 MGI:1913920 RGD:1304595 HGNC:24513 "ENST00000288502.9|NM_153045.4" +HGNC:52381 TMEM269 transmembrane protein 269 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 2016-11-10 2016-11-10 100129924 ENSG00000274386 OTTHUMG00000188150 NM_001242750 A0A1B0GVZ9 MGI:1922430 RGD:1563015 HGNC:52381 "ENST00000637012.2|NM_001354602.2" +HGNC:54423 TMEM269-DT TMEM269 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2019-07-24 2019-07-24 105378683 NR_133055 HGNC:54423 +HGNC:23018 TMEM270 transmembrane protein 270 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 MGC26719 WBSCR28 Williams-Beuren syndrome chromosome region 28 2006-07-04 2017-05-09 2017-05-09 2017-05-09 135886 ENSG00000175877 OTTHUMG00000157243 uc003tzk.2 BC030643 NM_182504 CCDS43597 Q6UE05 8812460 MGI:1923879 RGD:1561903 612547 HGNC:23018 "ENST00000320531.3|NM_182504.4" +HGNC:53639 TMEM271 transmembrane protein 271 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 2017-08-09 2019-12-06 112441426 ENSG00000273238 OTTHUMG00000192218 NM_001362796 A0A286YF58 MGI:5662654 HGNC:53639 "ENST00000610212.3|NM_001362796.2" +HGNC:26737 TMEM272 transmembrane protein 272 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 FLJ37307 "NCRNA00282|LINC00282" "non-protein coding RNA 282|long intergenic non-protein coding RNA 282" 2010-08-05 2017-08-10 2017-08-10 2017-08-10 283521 ENSG00000281106 OTTHUMG00000189519 uc001vft.2 AK094626 NM_001351005 CCDS86353 A0A1B0GTI8 HGNC:26737 "ENST00000629372.3|NM_001351003.2" +HGNC:27274 TMEM273 transmembrane protein 273 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 Em:AC084727.5 C10orf128 chromosome 10 open reading frame 128 2004-04-28 2018-02-23 2018-02-23 2018-02-23 170371 ENSG00000204161 OTTHUMG00000018188 uc001jhn.6 BC031641 NM_001010863 "CCDS73128|CCDS41519" Q5T292 12477932 MGI:1916319 RGD:1561145 HGNC:27274 "ENST00000374153.7|NM_001288740.3" +HGNC:53732 TMEM274P transmembrane protein 274, pseudogene pseudogene pseudogene Approved 1p36.22 01p36.22 2018-11-23 2018-11-23 113391335 ENSG00000283611 OTTHUMG00000191753 NR_158969 MGI:3701129 HGNC:53732 +HGNC:53938 TMEM275 transmembrane protein 275 protein-coding gene gene with protein product Approved 1p33 01p33 2018-11-23 2018-11-23 2018-11-23 2019-03-20 105378696 ENSG00000282881 OTTHUMG00000191600 NM_001357063 CCDS85971 A0A0U1RQS6 MGI:1923487 HGNC:53938 +HGNC:11870 TMF1 TATA element modulatory factor 1 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "ARA160|TMF" "Golgins|MicroRNA protein coding host genes" "1084|1691" 1992-11-25 2014-11-19 7110 ENSG00000144747 OTTHUMG00000158771 uc003dnn.4 NM_007114 "CCDS87105|CCDS43105" P82094 1409643 MGI:2684999 RGD:620551 601126 HGNC:11870 "ENST00000398559.7|NM_007114.3" +HGNC:51353 TMF1P1 TATA element modulatory factor 1 pseudogene 1 pseudogene pseudogene Approved 16p13.12 16p13.12 2014-10-14 2017-01-03 106480320 ENSG00000262235 OTTHUMG00000177336 NG_044428 PGOHUM00000293708 HGNC:51353 +HGNC:30800 TMIE transmembrane inner ear protein-coding gene gene with protein product Approved 3p21.31 03p21.31 DFNB6 deafness, autosomal recessive 6 2004-05-19 2004-05-19 2021-05-26 259236 ENSG00000181585 OTTHUMG00000149909 uc010hjk.2 AY081842 NM_147196 CCDS43081 Q8NEW7 "12140191|12145746" MGI:2159400 RGD:1562523 CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=TMIE 607237 120145 HGNC:30800 "ENST00000643606.3|NM_147196.3" HGNC:30800 +HGNC:32431 TMIGD1 transmembrane and immunoglobulin domain containing 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 UNQ9372 TMIGD I-set domain containing 593 2005-12-19 2006-07-05 2006-07-05 2016-08-09 388364 ENSG00000182271 OTTHUMG00000179757 uc002hfa.1 AY358153 NM_206832 "CCDS32605|CCDS82099" Q6UXZ0 "12975309|26342724" MGI:1913851 RGD:1307444 HGNC:32431 "ENST00000328886.5|NM_206832.3" +HGNC:28324 TMIGD2 transmembrane and immunoglobulin domain containing 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "MGC23244|CD28H|IGPR-1" "CD28 homologue|immunoglobulin-containing and proline-rich receptor-1" Immunoglobulin like domain containing 594 2006-07-05 2006-07-05 2015-08-21 126259 ENSG00000167664 OTTHUMG00000181880 uc002lzx.3 BC015655 NM_144615 "CCDS59334|CCDS77217|CCDS12126" Q96BF3 "22419821|23784006" 614715 HGNC:28324 +HGNC:51375 TMIGD3 transmembrane and immunoglobulin domain containing 3 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 AD026 2014-11-06 2015-09-08 57413 ENSG00000121933 OTTHUMG00000190810 NM_001081976 "CCDS838|CCDS41369" P0DMS9 MGI:5604098 RGD:2324712 HGNC:51375 "ENST00000369716.9|NM_020683.7" +HGNC:18308 TMLHE trimethyllysine hydroxylase, epsilon protein-coding gene gene with protein product Approved Xq28 Xq28 "TMLH|FLJ10727|BBOX2|XAP130" butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2 2002-04-26 2020-04-02 55217 ENSG00000185973 OTTHUMG00000022674 uc004fnn.5 "AF373407|X97513" NM_018196 "CCDS14768|CCDS55547" Q9NVH6 "8908511|11431483" MGI:2180203 RGD:620629 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TMLHE 300777 471238 HGNC:18308 "ENST00000334398.8|NM_018196.4" HGNC:18308 +HGNC:44261 TMLHE-AS1 TMLHE antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 Xq28 TMLHE antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-01 2012-08-15 2012-10-12 100507404 ENSG00000224533 OTTHUMG00000022672 uc004fnl.3 BC042086 NR_039991 TMLHE-AS1 HGNC:44261 +HGNC:55622 TMLHEP1 TMLHE pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2021-06-22 2021-06-22 553939 ENSG00000230578 NG_029356 PGOHUM00000305408 +HGNC:11871 TMOD1 tropomodulin 1 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 ETMOD "D9S57E|TMOD" Tropomodulins 1140 1991-05-21 2003-03-21 2016-10-05 7111 ENSG00000136842 OTTHUMG00000020325 uc004axl.3 NM_003275 CCDS6726 P28289 "1370827|8661028" MGI:98775 RGD:3874 190930 471240 HGNC:11871 "ENST00000259365.9|NM_003275.4" +HGNC:11872 TMOD2 tropomodulin 2 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 NTMOD neuronal tropomodulin Tropomodulins 1140 2000-02-16 2015-11-16 2015-11-16 29767 ENSG00000128872 OTTHUMG00000131805 uc002abk.4 AF177169 NM_001142885 "CCDS45260|CCDS10144" Q9NZR1 10662549 MGI:1355335 RGD:61948 602928 HGNC:11872 "ENST00000249700.9|NM_014548.4" +HGNC:11873 TMOD3 tropomodulin 3 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 UTMOD ubiquitous tropomodulin Tropomodulins 1140 2000-02-16 2015-11-16 2015-11-16 29766 ENSG00000138594 OTTHUMG00000131803 uc002abn.4 AF177171 NM_014547 CCDS10145 Q9NYL9 10662549 MGI:1355315 RGD:1311030 605112 471242 HGNC:11873 "ENST00000308580.12|NM_014547.5" +HGNC:11874 TMOD4 tropomodulin 4 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 Sk-Tmod "actin-capping protein|skeletal tropomodulin" tropomodulin 4 (muscle) Tropomodulins 1140 2000-02-16 2015-11-16 2016-10-05 29765 ENSG00000163157 OTTHUMG00000012350 uc001exc.5 AF177173 NM_013353 CCDS988 Q9NZQ9 "10662549|10497209" MGI:1355285 RGD:1308940 605834 HGNC:11874 "ENST00000295314.9|NM_013353.3" +HGNC:11875 TMPO thymopoietin protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "TP|LAP2|LEMD4" LEM domain containing 4 LEM domain containing 1087 1994-11-08 2021-04-13 7112 ENSG00000120802 OTTHUMG00000170210 uc001tfh.3 NM_003276 "CCDS9064|CCDS31879|CCDS31880|CCDS76589" "P42166|P42167" 7517549 MGI:106920 RGD:3875 LRG_443|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_443.xml 188380 159042 HGNC:11875 "ENST00000556029.6|NM_001032283.3" HGNC:11875 +HGNC:44158 TMPO-AS1 TMPO antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q23.1 12q23.1 TMPO antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2019-07-12 100128191 ENSG00000257167 OTTHUMG00000170209 uc001tfg.4 NR_027157 31230752 TMPO-AS1 HGNC:44158 +HGNC:21364 TMPOP1 thymopoietin pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 Em:AB014080.3 TMPOL1 thymopoietin-like 1 2003-11-27 2004-03-22 2004-03-22 2014-11-19 100129772 ENSG00000229068 OTTHUMG00000031218 NG_027533 PGOHUM00000243574 HGNC:21364 +HGNC:50860 TMPOP2 thymopoietin pseudogene 2 pseudogene pseudogene Approved 16q23.1 16q23.1 lncRNA-EBIC EZH2-binding lncRNA in cervical cancer thymopoietin pseudogene 2 (functional) 2014-07-06 2016-01-29 2016-01-29 100533619 ENSG00000262904 OTTHUMG00000177355 NG_028880 25007342 PGOHUM00000249173 HGNC:50860 +HGNC:33865 TMPPE transmembrane protein with metallophosphoesterase domain protein-coding gene gene with protein product Approved 3p22.3 03p22.3 FLJ45032 2009-02-24 2009-02-24 2015-08-26 643853 ENSG00000188167 OTTHUMG00000155779 uc003cfk.3 AK126979 NM_001039770 "CCDS46786|CCDS33732" Q6ZT21 MGI:5317335 RGD:7696429 HGNC:33865 "ENST00000342462.5|NM_001039770.3" +HGNC:11876 TMPRSS2 transmembrane serine protease 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 PRSS10 transmembrane protease, serine 2 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 1997-05-09 2018-01-19 2021-09-06 7113 ENSG00000184012 OTTHUMG00000086762 uc002yzj.4 U75329 NM_001135099 "CCDS33564|CCDS54486" O15393 9325052 MGI:1354381 RGD:620766 LRG_1368|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1368.xml TMPRSS2 602060 S01.247 objectId:2421 HGNC:11876 "ENST00000332149.10|NM_005656.4" +HGNC:11877 TMPRSS3 transmembrane serine protease 3 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "DFNB10|DFNB8" transmembrane protease, serine 3 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2000-05-17 2018-01-19 2021-05-26 64699 ENSG00000160183 OTTHUMG00000086796 uc062akz.1 AF201380 NM_001256317 "CCDS58790|CCDS13686|CCDS42939" P57727 "11462234|11907649" MGI:2155445 RGD:1310135 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=TMPRSS3" 605511 120148 S01.079 HGNC:11877 "ENST00000644384.2|NM_001256317.3" HGNC:11877 +HGNC:11878 TMPRSS4 transmembrane serine protease 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TMPRSS3|MT-SP2|CAP2" "transmembrane serine protease 3|membrane-type serine protease 2|type II membrane serine protease|channel-activating serine protease 2" transmembrane protease, serine 4 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2000-08-11 2018-01-19 2021-09-06 56649 ENSG00000137648 OTTHUMG00000164122 uc058hvt.1 AF179224 NM_019894 "CCDS31684|CCDS76482|CCDS44743|CCDS53717|CCDS53716" Q9NRS4 "10825129|25203520" MGI:2384877 RGD:1305033 606565 364667 S01.034 HGNC:11878 "ENST00000437212.8|NM_019894.4" HGNC:11878 +HGNC:14908 TMPRSS5 transmembrane serine protease 5 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "MGC141886|MGC148044" spinesin transmembrane protease, serine 5 "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2001-04-05 2018-01-19 2018-01-19 80975 ENSG00000166682 OTTHUMG00000168186 uc001poc.6 AB028140 NM_030770 "CCDS44735|CCDS73393|CCDS73392|CCDS73391|CCDS73390" Q9H3S3 MGI:1933407 RGD:628625 606751 S01.313 HGNC:14908 "ENST00000299882.11|NM_030770.4" HGNC:14908 +HGNC:16517 TMPRSS6 transmembrane serine protease 6 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "FLJ30744|MT2" matriptase-2 transmembrane protease, serine 6 Type II transmembrane serine proteases 2020 2003-12-17 2018-01-19 2021-05-26 164656 ENSG00000187045 OTTHUMG00000150541 uc003aqs.3 AY055383 NM_153609 "CCDS74856|CCDS74857" Q8IU80 MGI:1919003 RGD:1307138 LRG_1128|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1128.xml 609862 139780 S01.308 objectId:2422 HGNC:16517 "ENST00000676104.1|NM_001374504.1" HGNC:16517 +HGNC:30846 TMPRSS7 transmembrane serine protease 7 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 matriptase-3 "type II transmembrane serine protease 7|transmembrane protease, serine 7" Type II transmembrane serine proteases 2020 2003-12-17 2018-01-19 2020-04-23 344805 ENSG00000176040 OTTHUMG00000157148 uc010hqb.3 BN000125 NM_001042575 CCDS43129 Q7RTY8 12838346 MGI:2686594 RGD:1304655 S01.072 HGNC:30846 +HGNC:30079 TMPRSS9 transmembrane serine protease 9 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 polyserase 1 transmembrane protease, serine 9 Type II transmembrane serine proteases 2020 2004-04-07 2018-01-19 2020-04-01 360200 ENSG00000178297 OTTHUMG00000180431 uc010xgx.3 AJ488946 NM_182973 CCDS12088 Q7Z410 12886014 MGI:3612246 RGD:1309581 610477 S01.969 HGNC:30079 +HGNC:27954 TMPRSS11A transmembrane serine protease 11A protein-coding gene gene with protein product Approved 4q13.2 04q13.2 "ECRG1|HATL1|HESP" airway trypsin-like protease 1 transmembrane protease, serine 11A Type II transmembrane serine proteases 2020 2005-03-11 2018-01-19 2020-04-23 339967 ENSG00000187054 OTTHUMG00000129303 uc003hdr.2 AF071882 NM_182606 "CCDS47065|CCDS3519" Q6ZMR5 15328353 MGI:2684853 RGD:1596322 611704 S01.292 HGNC:27954 "ENST00000508048.6|NM_001114387.2" +HGNC:25398 TMPRSS11B transmembrane serine protease 11B protein-coding gene gene with protein product Approved 4q13.2 04q13.2 HATL5 airway trypsin-like protease 5 transmembrane protease, serine 11B Type II transmembrane serine proteases 2020 2005-03-11 2018-01-19 2020-04-23 132724 ENSG00000185873 OTTHUMG00000129301 uc003hdw.5 BX537945 NM_182502 CCDS3521 Q86T26 MGI:2442893 RGD:1303278 S01.365 HGNC:25398 "ENST00000332644.6|NM_182502.3" +HGNC:37262 TMPRSS11BNL TMPRSS11B N-terminal like, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 FLJ41562 "TMPRSS11B N terminal-like|TMPRSS11B N-terminal like" 2010-01-19 2014-05-08 2021-10-07 401136 ENSG00000250026 OTTHUMG00000160802 NR_104048 HGNC:37262 +HGNC:31934 TMPRSS11CP transmembrane serine protease 11C, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 transmembrane protease, serine 11C, pseudogene 2010-03-12 2018-01-19 2018-01-19 100381178 ENSG00000232398 OTTHUMG00000154681 NG_016735 "15328353|18215125" MGI:3521861 RGD:1302967 HGNC:31934 +HGNC:24059 TMPRSS11D transmembrane serine protease 11D protein-coding gene gene with protein product Approved 4q13.2 04q13.2 "HAT|ASP" "airway trypsin like protease|adrenal secretory serine protease" transmembrane protease, serine 11D Type II transmembrane serine proteases 2020 2005-03-11 2018-01-19 2020-04-23 9407 ENSG00000153802 OTTHUMG00000129300 uc003hdq.4 AB002134 NM_004262 CCDS3518 O60235 "9565616|9070615" MGI:2385221 RGD:620654 605369 S01.047 objectId:2420 HGNC:24059 "ENST00000283916.11|NM_004262.3" +HGNC:24465 TMPRSS11E transmembrane serine protease 11E protein-coding gene gene with protein product Approved 4q13.2 04q13.2 DESC1 TMPRSS11E2 "transmembrane protease, serine 11E2|transmembrane protease, serine 11E" Type II transmembrane serine proteases 2020 2005-03-11 2018-01-19 2018-01-19 28983 ENSG00000087128 OTTHUMG00000160438 uc003hdz.4 AF064819 NM_014058 CCDS33993 Q9UL52 15328353 MGI:3513175 RGD:1561698 610399 S01.021 HGNC:24465 "ENST00000305363.9|NM_014058.4" +HGNC:29994 TMPRSS11F transmembrane serine protease 11F protein-coding gene gene with protein product Approved 4q13.2 04q13.2 "FLJ16046|HATL4" airway trypsin-like protease 4 transmembrane protease, serine 11F Type II transmembrane serine proteases 2020 2005-03-11 2018-01-19 2020-04-23 389208 ENSG00000198092 OTTHUMG00000129307 uc003hdt.2 AK122625 NM_207407 CCDS3520 Q6ZWK6 MGI:2442348 RGD:1560675 S01.321 HGNC:29994 "ENST00000356291.3|NM_207407.2" +HGNC:42983 TMPRSS11GP transmembrane serine protease 11G, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 transmembrane protease, serine 11G, pseudogene 2011-09-13 2018-01-19 2018-01-19 644759 ENSG00000229009 OTTHUMG00000154737 NR_033737 MGI:2444058 PGOHUM00000245555 HGNC:42983 +HGNC:28779 TMPRSS12 transmembrane serine protease 12 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "MGC57341|CT151" transmembrane protease, serine 12 Type II transmembrane serine proteases 2020 2005-02-24 2018-01-19 2018-01-19 283471 ENSG00000186452 OTTHUMG00000169483 uc001rwx.5 BC048112 NM_182559 CCDS44881 Q86WS5 MGI:1922252 RGD:2323781 S01.291 HGNC:28779 "ENST00000398458.4|NM_182559.3" +HGNC:29808 TMPRSS13 transmembrane serine protease 13 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "MSPL|MSPS" Membrane-type mosaic serine protease TMPRSS11 "transmembrane protease, serine 11|transmembrane protease, serine 13" "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 2005-02-24 2005-03-12 2018-01-19 2020-04-23 84000 ENSG00000137747 OTTHUMG00000166992 uc001prs.3 AB048796 NM_032046 "CCDS55789|CCDS41721|CCDS55788|CCDS58185" Q9BYE2 11267681 MGI:2682935 RGD:1310872 610050 S01.087 HGNC:29808 "ENST00000524993.6|NM_001077263.3" +HGNC:9490 TMPRSS15 transmembrane serine protease 15 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 "ENTK|MGC133046" "proenterokinase|enteropeptidase" PRSS7 "protease, serine, 7 (enterokinase)|transmembrane protease, serine 15" "Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases" "1404|2020" 1995-08-14 2010-04-21 2018-01-19 2018-01-19 5651 ENSG00000154646 OTTHUMG00000074518 uc002ykw.4 NM_002772 CCDS13571 P98073 8052624 MGI:1197523 RGD:1311046 606635 173222 S01.156 objectId:3189 HGNC:9490 "ENST00000284885.8|NM_002772.3" HGNC:9490 +HGNC:11881 TMSB4X thymosin beta 4 X-linked protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 TB4X TMSB4 thymosin, beta 4, X chromosome 1994-09-06 2018-04-26 2018-04-26 7114 ENSG00000205542 OTTHUMG00000021144 uc004cvf.4 NM_021109 CCDS35202 P62328 "2677145|9381176" MGI:99510 RGD:621622 300159 HGNC:11881 "ENST00000451311.7|NM_021109.4" +HGNC:11883 TMSB4XP1 TMSB4X pseudogene 1 pseudogene pseudogene Approved 1p34.2 01p34.2 TMSL1 "thymosin-like 1|thymosin-like 1 (pseudogene)|thymosin beta 4, X-linked pseudogene 1" 1990-06-18 2010-06-23 2018-04-26 2018-04-26 7115 ENSG00000236876 OTTHUMG00000007433 BC101199 NG_004714 HGNC:11883 +HGNC:11884 TMSB4XP2 TMSB4X pseudogene 2 pseudogene pseudogene Approved 2p25.3 02p25.3 TMSL2 "thymosin-like 2|thymosin-like 2 (pseudogene)|thymosin beta 4, X-linked pseudogene 2" 1990-06-18 2010-06-23 2018-04-26 2018-04-26 7116 ENSG00000188765 OTTHUMG00000151484 NG_004719 HGNC:11884 +HGNC:38587 TMSB4XP3 TMSB4X pseudogene 3 pseudogene pseudogene Approved 7p14.3 07p14.3 thymosin beta 4, X-linked pseudogene 3 2010-06-23 2018-04-26 2018-04-26 100873877 ENSG00000223437 OTTHUMG00000152734 NG_032206 PGOHUM00000262015 HGNC:38587 +HGNC:11886 TMSB4XP4 TMSB4X pseudogene 4 pseudogene pseudogene Approved 9q34.11 09q34.11 TMSL4 "thymosin-like 4|thymosin-like 4 (pseudogene)|thymosin beta 4, X-linked pseudogene 4" 1990-06-18 2012-03-06 2018-04-26 2018-04-26 7118 ENSG00000223551 OTTHUMG00000020739 NG_004715 HGNC:11886 +HGNC:11887 TMSB4XP5 TMSB4X pseudogene 5 pseudogene pseudogene Approved 11q12.3 11q12.3 TMSL5 "thymosin-like 5|thymosin-like 5 (pseudogene)|thymosin beta 4, X-linked pseudogene 5" 1990-06-18 2012-03-06 2018-04-26 2018-04-26 7119 NG_002996 HGNC:11887 +HGNC:11888 TMSB4XP6 TMSB4X pseudogene 6 pseudogene pseudogene Approved 20q13.13 20q13.13 dJ1071L10.1 "TMSB4L|TMSL6" "thymosin, beta 4-like|thymosin-like 6|thymosin-like 6 (pseudogene)|thymosin beta 4, X-linked pseudogene 6" 1990-06-18 2012-03-06 2018-04-26 2018-04-26 7120 ENSG00000230043 OTTHUMG00000074021 BC112282 NG_006508 2004759 HGNC:11888 +HGNC:11889 TMSB4XP7 TMSB4X pseudogene 7 pseudogene pseudogene Approved Xq23 Xq23 TMSL7 "thymosin-like 7 (pseudogene)|thymosin beta 4, X-linked pseudogene 7" 1990-06-18 2012-03-06 2018-04-26 2018-04-26 7121 NG_002997 2004759 HGNC:11889 +HGNC:11885 TMSB4XP8 TMSB4X pseudogene 8 pseudogene pseudogene Approved 4q22.1 04q22.1 TMSL3 "thymosin-like 3|thymosin beta 4, X-linked pseudogene 8" 1990-06-18 2012-03-06 2018-04-26 2018-04-26 7117 ENSG00000187653 OTTHUMG00000130951 NG_028923 2004759 HGNC:11885 +HGNC:11882 TMSB4Y thymosin beta 4 Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 TB4Y thymosin, beta 4, Y chromosome Minor histocompatibility antigens 870 1999-02-03 2018-04-26 2018-04-26 9087 ENSG00000154620 OTTHUMG00000036366 uc004ftb.4 AF000989 NM_004202 CCDS14786 O14604 9381176 MGI:99510 400017 HGNC:11882 "ENST00000284856.4|NM_004202.3" +HGNC:11879 TMSB10 thymosin beta 10 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 TB10 1999-02-15 2008-02-25 2015-09-08 9168 ENSG00000034510 OTTHUMG00000130027 uc002sow.2 NM_021103 CCDS1970 P63313 "3365256|10487837" MGI:109146 RGD:62022 188399 HGNC:11879 "ENST00000233143.6|NM_021103.4" +HGNC:41949 TMSB10P1 thymosin beta 10 pseudogene 1 pseudogene pseudogene Approved 2q37.2 02q37.2 2011-05-20 2014-11-18 100506723 ENSG00000228499 OTTHUMG00000153123 NG_029007 PGOHUM00000240566 HGNC:41949 +HGNC:41950 TMSB10P2 thymosin beta 10 pseudogene 2 pseudogene pseudogene Approved Xp22.13 Xp22.13 2011-05-20 2011-05-20 100873786 ENSG00000235211 OTTHUMG00000021213 NG_021431 PGOHUM00000241657 HGNC:41950 +HGNC:30744 TMSB15A thymosin beta 15A protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 TMSNB TMSL8 thymosin-like 8 2005-02-21 2009-01-12 2020-07-31 2020-07-31 11013 ENSG00000158164 OTTHUMG00000022054 uc004eje.4 D82345 NM_021992 CCDS14498 P0CG34 "9039501|17567946" MGI:1925728 RGD:708373 300939 HGNC:30744 "ENST00000289373.5|NM_021992.3" +HGNC:28612 TMSB15B thymosin beta 15B protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 MGC39900 2009-01-12 2015-09-11 286527 ENSG00000158427 OTTHUMG00000022117 uc065anb.1 NM_194324 CCDS59172 P0CG35 17567946 "MGI:3843059|MGI:3843061" 301011 HGNC:28612 "ENST00000540220.6|NM_194324.4" +HGNC:53858 TMSB15B-AS1 TMSB15B antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.2 Xq22.2 Antisense RNAs 1987 2018-04-26 2018-04-26 100128594 ENSG00000231728 NR_146556 HGNC:53858 +HGNC:24099 TMTC1 transmembrane O-mannosyltransferase targeting cadherins 1 protein-coding gene gene with protein product Approved 12p11.22 12p11.22 "ARG99|OLF|FLJ31400|FLJ41625" transmembrane and tetratricopeptide repeat containing 1 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2019-06-06 83857 ENSG00000133687 OTTHUMG00000169324 uc001rjb.4 NM_031920 "CCDS8718|CCDS53772" Q8IUR5 24764305 MGI:3039590 RGD:1564868 615855 HGNC:24099 "ENST00000539277.6|NM_001193451.2" +HGNC:25440 TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 DKFZp762A217 transmembrane and tetratricopeptide repeat containing 2 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2019-06-06 160335 ENSG00000179104 OTTHUMG00000169736 uc001szt.5 AK074634 NM_152588 "CCDS9025|CCDS81717" Q8N394 24764305 MGI:1914057 RGD:1309848 615856 HGNC:25440 "ENST00000321196.8|NM_152588.3" HGNC:25440 +HGNC:26899 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 protein-coding gene gene with protein product Approved 12q21.32 12q21.32 "FLJ90492|SMILE" transmembrane and tetratricopeptide repeat containing 3 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2021-05-26 160418 ENSG00000139324 OTTHUMG00000169887 uc001tau.3 NM_181783 CCDS9032 Q6ZXV5 MGI:3036255 RGD:1306351 617218 HGNC:26899 "ENST00000266712.11|NM_181783.4" HGNC:26899 +HGNC:25904 TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 "FLJ14624|FLJ22153" transmembrane and tetratricopeptide repeat containing 4 "Tetratricopeptide repeat domain containing|Transmembrane and tetratricopeptide repeat containing" "769|1918" 2006-01-06 2019-06-06 2019-06-06 84899 ENSG00000125247 OTTHUMG00000017289 uc001vou.5 NM_032813 "CCDS66575|CCDS41904|CCDS9497" Q5T4D3 MGI:1921050 RGD:1560183 618203 HGNC:25904 "ENST00000342624.10|NM_032813.5" +HGNC:21709 TMUB1 transmembrane and ubiquitin like domain containing 1 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "SB144|HOPS" hepatocyte odd protein shuttling C7orf21 "chromosome 7 open reading frame 21|transmembrane and ubiquitin-like domain containing 1" 2003-07-14 2006-06-27 2016-03-15 2020-03-05 83590 ENSG00000164897 OTTHUMG00000158621 uc003wjd.4 BC000936 NM_031434 CCDS5920 Q9BVT8 "16014383|31827061|31867855" MGI:1923764 RGD:735120 614792 HGNC:21709 "ENST00000297533.9|NM_001136044.2" +HGNC:28459 TMUB2 transmembrane and ubiquitin like domain containing 2 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MGC3123 transmembrane and ubiquitin-like domain containing 2 2006-06-27 2016-03-15 2019-08-20 79089 ENSG00000168591 OTTHUMG00000181811 uc002ifp.4 NM_177441 "CCDS54134|CCDS82137|CCDS11479" Q71RG4 "8619474|9110174" MGI:1919303 RGD:1304758 HGNC:28459 "ENST00000538716.7|NM_001076674.3" +HGNC:15487 TMX1 thioredoxin related transmembrane protein 1 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "TMX|PDIA11" "thioredoxin-related transmembrane protein|protein disulfide isomerase family A, member 11" "TXNDC|TXNDC1" "thioredoxin domain-containing|thioredoxin domain containing|thioredoxin domain containing 1|thioredoxin-related transmembrane protein 1" "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2001-04-23 2009-02-23 2016-02-01 2020-04-01 81542 ENSG00000139921 OTTHUMG00000171003 uc001wza.5 AB048246 NM_030755 CCDS41953 Q9H3N1 11152479 MGI:1919986 RGD:1308455 610527 HGNC:15487 "ENST00000457354.7|NM_030755.5" +HGNC:30739 TMX2 thioredoxin related transmembrane protein 2 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 PDIA12 protein disulfide isomerase family A, member 12 TXNDC14 "thioredoxin domain containing 14|thioredoxin-related transmembrane protein 2" "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2005-10-04 2009-02-23 2016-02-01 2016-02-01 51075 ENSG00000213593 OTTHUMG00000167200 uc001nlc.3 AF132965 NM_015959 "CCDS7967|CCDS44601" Q9Y320 12670024 MGI:1914208 RGD:1359456 616715 HGNC:30739 "ENST00000278422.9|NM_015959.4" HGNC:30739 +HGNC:41992 TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) other readthrough Approved 11q12.1 11q12.1 2011-05-31 2013-05-09 2014-11-19 100528016 ENSG00000254462 OTTHUMG00000167384 uc058boc.1 NR_037646.1 HGNC:41992 +HGNC:49916 TMX2P1 thioredoxin related transmembrane protein 2 pseudogene 1 pseudogene pseudogene Approved 9p13.2 09p13.2 thioredoxin-related transmembrane protein 2 pseudogene 1 2014-03-21 2016-02-01 2016-02-01 100233198 ENSG00000213839 OTTHUMG00000019929 NG_009211 PGOHUM00000260500 HGNC:49916 +HGNC:24718 TMX3 thioredoxin related transmembrane protein 3 protein-coding gene gene with protein product Approved 18q22.1 18q22.1 "FLJ20793|KIAA1830|PDIA13" protein disulfide isomerase family A, member 13 TXNDC10 "thioredoxin domain containing 10|thioredoxin-related transmembrane protein 3" "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2005-01-06 2009-02-23 2016-02-01 2020-04-01 54495 ENSG00000166479 OTTHUMG00000172713 uc002lkf.4 BX647846 NM_019022 "CCDS86679|CCDS86680|CCDS32840" Q96JJ7 15623505 MGI:2442418 RGD:1592777 616102 HGNC:24718 "ENST00000299608.7|NM_019022.5" +HGNC:25237 TMX4 thioredoxin related transmembrane protein 4 protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "DJ971N18.2|KIAA1162|PDIA14" protein disulfide isomerase family A, member 14 TXNDC13 "thioredoxin domain containing 13|thioredoxin-related transmembrane protein 4" "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2005-09-13 2009-02-23 2016-02-01 2016-10-05 56255 ENSG00000125827 OTTHUMG00000031843 uc002wmx.2 NM_021156 CCDS13101 Q9H1E5 20056998 MGI:106558 RGD:1305146 616766 HGNC:25237 "ENST00000246024.7|NM_021156.4" +HGNC:55788 TMX4-AS1 TMX4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p12.3 20p12.3 Antisense RNAs 1987 2021-07-28 2021-07-28 105372520 ENSG00000229766 XR_007067514 +HGNC:5318 TNC tenascin C protein-coding gene gene with protein product Approved 9q33.1 09q33.1 "TN|MGC167029" hexabrachion (tenascin) "HXB|DFNA56" "hexabrachion (tenascin C, cytotactin)|deafness, autosomal dominant 56" Tenascins 1983 1989-09-08 2002-06-07 2008-07-31 2017-07-07 3371 ENSG00000041982 OTTHUMG00000021010 uc004bjj.6 NM_002160 CCDS6811 P24821 "1704365|1707164|23936043" MGI:101922 RGD:621057 187380 391333 HGNC:5318 "ENST00000350763.9|NM_002160.4" HGNC:5318 +HGNC:11892 TNF tumor necrosis factor protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "TNFSF2|DIF|TNF-alpha" TNF superfamily, member 2 TNFA tumor necrosis factor (TNF superfamily, member 2) Tumor necrosis factor superfamily 781 1986-01-01 2010-05-04 2016-10-05 7124 ENSG00000232810 OTTHUMG00000031194 uc011fee.4 X02910 NM_000594 CCDS4702 P01375 "2413547|6392892" MGI:104798 RGD:3876 191160 139204 ligandId:5073 HGNC:11892 "ENST00000449264.3|NM_000594.4" +HGNC:11894 TNFAIP1 TNF alpha induced protein 1 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "B61|B12|MGC2317|BTBD34" EDP1 tumor necrosis factor, alpha-induced protein 1 (endothelial) BTB domain containing 861 1991-08-08 2015-11-23 2016-10-05 7126 ENSG00000109079 OTTHUMG00000132501 uc002hay.4 NM_021137 CCDS11227 Q13829 "2406243|2233719" MGI:104961 RGD:3877 191161 HGNC:11894 "ENST00000226225.7|NM_021137.5" +HGNC:11895 TNFAIP2 TNF alpha induced protein 2 protein-coding gene gene with protein product Approved 14q32.32 14q32.32 "B94|EXOC3L3" exocyst complex component 3-like 3 tumor necrosis factor, alpha-induced protein 2 1992-09-29 2015-11-23 2020-04-01 7127 ENSG00000185215 OTTHUMG00000171890 uc059fpb.1 NM_006291 CCDS9979 Q03169 1374453 MGI:104960 RGD:1594556 603300 HGNC:11895 "ENST00000560869.6|NM_006291.4" +HGNC:11896 TNFAIP3 TNF alpha induced protein 3 protein-coding gene gene with protein product Approved 6q23.3 06q23.3 "A20|OTUD7C" tumor necrosis factor, alpha-induced protein 3 OTU domain containing 669 1992-10-20 2015-11-23 2021-05-26 7128 ENSG00000118503 OTTHUMG00000015664 uc031spv.2 M59465 NM_001270507 CCDS5187 P21580 2118515 MGI:1196377 RGD:1589275 TNFAIP3 191163 369146 C64.003 HGNC:11896 "ENST00000612899.5|NM_001270508.2" HGNC:11896 +HGNC:11898 TNFAIP6 TNF alpha induced protein 6 protein-coding gene gene with protein product Approved 2q23.3 02q23.3 "TSG6|TSG-6" tumor necrosis factor, alpha-induced protein 6 MicroRNA protein coding host genes 1691 1992-10-20 2015-11-23 2015-11-23 7130 ENSG00000123610 OTTHUMG00000131884 uc002txk.3 NM_007115 CCDS2193 P98066 "1730767|8568267|15060082" MGI:1195266 RGD:621359 600410 HGNC:11898 "ENST00000243347.5|NM_007115.4" +HGNC:17260 TNFAIP8 TNF alpha induced protein 8 protein-coding gene gene with protein product Approved 5q23.1 05q23.1 "GG2-1|MDC-3.13|SCC-S2" tumor necrosis factor, alpha-induced protein 8 2004-02-11 2015-11-23 2015-11-23 25816 ENSG00000145779 OTTHUMG00000162949 uc003ksg.5 AF070671 NM_014350 "CCDS68933|CCDS47258|CCDS47257" O95379 "10233894|10644768" MGI:2147191 RGD:1305908 612111 HGNC:17260 "ENST00000504771.3|NM_014350.4" +HGNC:28279 TNFAIP8L1 TNF alpha induced protein 8 like 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC17791 tumor necrosis factor, alpha-induced protein 8-like 1 2005-05-16 2015-11-23 2020-04-01 126282 ENSG00000185361 OTTHUMG00000182013 uc002max.4 BC017672 NM_152362 CCDS12132 Q8WVP5 21924498 MGI:1913693 RGD:1588574 615869 HGNC:28279 "ENST00000327473.9|NM_152362.3" +HGNC:26277 TNFAIP8L2 TNF alpha induced protein 8 like 2 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 FLJ23467 tumor necrosis factor, alpha-induced protein 8-like 2 2005-05-16 2015-11-23 2016-10-05 79626 ENSG00000163154 OTTHUMG00000012259 uc001ewx.2 BC063014 NM_024575 CCDS985 Q6P589 21924498 MGI:1917019 RGD:1310519 612112 HGNC:26277 "ENST00000368910.4|NM_024575.5" +HGNC:20620 TNFAIP8L3 TNF alpha induced protein 8 like 3 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 FLJ41287 tumor necrosis factor, alpha-induced protein 8-like 3 2005-05-16 2015-11-23 2020-04-01 388121 ENSG00000183578 OTTHUMG00000172460 uc001zyy.5 AK123281 NM_207381 "CCDS81881|CCDS32241" Q5GJ75 21924498 MGI:2685363 RGD:1311533 616438 HGNC:20620 "ENST00000637513.2|NM_001311175.2" +HGNC:11916 TNFRSF1A TNF receptor superfamily member 1A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "TNF-R|TNFAR|TNFR60|TNF-R-I|CD120a|TNF-R55" TNFR1 tumor necrosis factor receptor superfamily, member 1A "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1991-01-15 2016-06-28 2021-04-13 7132 ENSG00000067182 OTTHUMG00000168267 uc001qnu.4 M75866 NM_001065 CCDS8542 P19438 "1655358|2158863" MGI:1314884 RGD:621237 "INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations|http://fmf.igh.cnrs.fr/infevers/|LRG_193|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_193.xml" 191190 120173 objectId:1870 CD120a HGNC:11916 "ENST00000162749.7|NM_001065.4" HGNC:11916 +HGNC:11917 TNFRSF1B TNF receptor superfamily member 1B protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "TNFBR|TNFR80|TNF-R75|TNF-R-II|p75|CD120b" TNFR2 tumor necrosis factor receptor superfamily, member 1B "CD molecules|Tumor necrosis factor receptor superfamily|MicroRNA protein coding host genes" "471|782|1691" 1991-01-15 2016-06-28 2016-06-28 7133 ENSG00000028137 OTTHUMG00000001829 uc001att.4 M32315 NM_001066 CCDS145 P20333 "2158863|8702885" MGI:1314883 RGD:621238 191191 448527 objectId:1871 CD120b HGNC:11917 "ENST00000376259.7|NM_001066.3" +HGNC:11918 TNFRSF4 TNF receptor superfamily member 4 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "ACT35|OX40|CD134" TXGP1L tumor necrosis factor receptor superfamily, member 4 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1994-12-15 2016-06-28 2021-04-13 7293 ENSG00000186827 OTTHUMG00000001415 uc001ade.4 X75962 NM_003327 CCDS11 P43489 "7510240|2828930" MGI:104512 RGD:3920 LRG_1319|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1319.xml 600315 434205 objectId:1873 CD134 HGNC:11918 "ENST00000379236.4|NM_003327.4" HGNC:11918 +HGNC:11921 TNFRSF6B TNF receptor superfamily member 6b protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "DcR3|DCR3|TR6|M68" tumor necrosis factor receptor superfamily, member 6b, decoy Tumor necrosis factor receptor superfamily 782 1999-01-07 2016-06-28 2016-11-10 8771 ENSG00000243509 OTTHUMG00000143724 uc002yfz.4 AF104419 NM_003823 CCDS13532 O95407 "9872321|10318773" 603361 objectId:2322 HGNC:11921 "ENST00000369996.3|NM_003823.4" +HGNC:11923 TNFRSF8 TNF receptor superfamily member 8 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 KI-1 "CD30|D1S166E" tumor necrosis factor receptor superfamily, member 8 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1992-01-10 2016-06-28 2016-10-05 943 ENSG00000120949 OTTHUMG00000001827 uc001atq.3 M83554 NM_001243 "CCDS59989|CCDS144" P28908 "1330892|1310894" MGI:99908 RGD:3879 153243 objectId:1877 CD30 HGNC:11923 "ENST00000263932.7|NM_001243.5" +HGNC:11924 TNFRSF9 TNF receptor superfamily member 9 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "CD137|4-1BB" ILA tumor necrosis factor receptor superfamily, member 9 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1996-06-12 2016-06-28 2016-10-05 3604 ENSG00000049249 OTTHUMG00000001223 uc001aot.4 L12964 NM_001561 CCDS92 Q07011 "8262389|8639902" MGI:1101059 RGD:1598208 602250 471244 objectId:1878 CD137 HGNC:11924 "ENST00000377507.8|NM_001561.6" +HGNC:11904 TNFRSF10A TNF receptor superfamily member 10a protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DR4|Apo2|TRAILR-1|CD261|TRAILR1" tumor necrosis factor receptor superfamily, member 10a "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2018-01-25 8797 ENSG00000104689 OTTHUMG00000097843 uc003xda.4 U90875 NM_003844 CCDS6039 O00220 "9311998|9082980" MGI:1341090 RGD:1308041 603611 objectId:1879 CD261 HGNC:11904 "ENST00000221132.8|NM_003844.4" +HGNC:53164 TNFRSF10A-AS1 TNFRSF10A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 RP11-1149O23.2 Antisense RNAs 1987 2017-03-03 2017-03-03 110806274 ENSG00000253930 OTTHUMG00000163783 27727196 +HGNC:52647 TNFRSF10A-DT TNFRSF10A divergent transcript non-coding RNA RNA, long non-coding Approved 8p21.3 08p21.3 LOC389641 Divergent transcripts 1990 2021-04-29 2021-12-03 389641 ENSG00000250714 NR_033928 26708505 +HGNC:11905 TNFRSF10B TNF receptor superfamily member 10b protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DR5|KILLER|TRICK2A|TRAIL-R2|TRICKB|CD262|TRAILR2" tumor necrosis factor receptor superfamily, member 10b "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2018-01-25 8795 ENSG00000120889 OTTHUMG00000097826 uc003xcu.4 AF012628 NM_147187 "CCDS6036|CCDS6035" O14763 "9285725|9311998" MGI:1341090 603612 objectId:1880 CD262 HGNC:11905 "ENST00000276431.9|NM_003842.5" HGNC:11905 +HGNC:11906 TNFRSF10C TNF receptor superfamily member 10c protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DcR1|TRAILR3|LIT|TRID|CD263" tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2016-10-05 8794 ENSG00000173535 OTTHUMG00000097844 uc003xcy.4 AF012536 NM_003841 CCDS6037 O14798 "9314565|9325248" MGI:1341090 603613 objectId:2323 CD263 HGNC:11906 "ENST00000356864.4|NM_003841.5" +HGNC:11907 TNFRSF10D TNF receptor superfamily member 10d protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "DcR2|TRUNDD|TRAILR4|CD264" tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2016-10-05 8793 ENSG00000173530 OTTHUMG00000097845 uc003xcz.4 AF029761 NM_003840 CCDS6038 Q9UBN6 "9382840|9537512" MGI:1341090 603614 objectId:2324 CD264 HGNC:11907 "ENST00000312584.4|NM_003840.5" +HGNC:11908 TNFRSF11A TNF receptor superfamily member 11a protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "RANK|CD265|FEO|ODFR|TRANCE-R" "osteoclast differentiation factor receptor|receptor activator of nuclear factor kappa B|familial expansile osteolysis|TRANCE receptor" "PDB2|LOH18CR1" "tumor necrosis factor receptor superfamily, member 11a, activator of NFKB|Paget disease of bone 2|loss of heterozygosity, 18, chromosomal region 1|tumor necrosis factor receptor superfamily, member 11a, NFKB activator" "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2021-04-13 8792 ENSG00000141655 OTTHUMG00000132779 uc002lin.5 AF018253 NM_001270949 "CCDS59324|CCDS74228|CCDS74227|CCDS11980" Q9Y6Q6 "9367155|10615125" MGI:1314891 RGD:1563614 LRG_194|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_194.xml 603499 120160 objectId:1881 CD265 HGNC:11908 "ENST00000586569.3|NM_003839.4" HGNC:11908 +HGNC:11909 TNFRSF11B TNF receptor superfamily member 11b protein-coding gene gene with protein product Approved 8q24.12 08q24.12 "OCIF|TR1" osteoclastogenesis inhibitory factor OPG "osteoprotegerin|tumor necrosis factor receptor superfamily, member 11b" Tumor necrosis factor receptor superfamily 782 1997-09-05 2016-06-28 2021-04-12 4982 ENSG00000164761 OTTHUMG00000164969 uc003yon.5 U94332 NM_002546 CCDS6326 O00300 9108485 MGI:109587 RGD:619802 602643 120164 objectId:1882 HGNC:11909 "ENST00000297350.9|NM_002546.4" HGNC:11909 +HGNC:18152 TNFRSF12A TNF receptor superfamily member 12A protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FN14|TweakR|CD266" tumor necrosis factor receptor superfamily, member 12A "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 2002-12-20 2016-06-28 2016-06-28 51330 ENSG00000006327 OTTHUMG00000129001 uc002csv.5 AB035480 NM_016639 CCDS10489 Q9NP84 "10751351|10551889" MGI:1351484 RGD:631329 605914 objectId:1884 CD266 HGNC:18152 "ENST00000326577.9|NM_016639.3" +HGNC:18153 TNFRSF13B TNF receptor superfamily member 13B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "TACI|CD267|IGAD2" tumor necrosis factor receptor superfamily, member 13B "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 2002-05-22 2016-06-28 2021-04-13 23495 ENSG00000240505 OTTHUMG00000059262 uc002gqs.2 AF023614 NM_012452 CCDS11181 O14836 9311921 MGI:1889411 RGD:1595998 "TNFRSF13Bbase: Mutation registry for TACI deficiency|http://structure.bmc.lu.se/idbase/TNFRSF13Bbase/|LRG_120|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_120.xml" 604907 120169 objectId:1885 CD267 HGNC:18153 "ENST00000261652.7|NM_012452.3" HGNC:18153 +HGNC:17755 TNFRSF13C TNF receptor superfamily member 13C protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "BAFFR|CD268" tumor necrosis factor receptor superfamily, member 13C "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 2002-05-22 2016-06-28 2021-04-13 115650 ENSG00000159958 OTTHUMG00000151271 uc003bbl.3 AF373846 NM_052945 CCDS14024 Q96RJ3 11509692 MGI:1919299 RGD:1560810 LRG_184|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_184.xml 606269 231494 objectId:1886 CD268 HGNC:17755 "ENST00000291232.5|NM_052945.4" HGNC:17755 +HGNC:11912 TNFRSF14 TNF receptor superfamily member 14 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "HVEM|ATAR|TR2|LIGHTR|HVEA|CD270" herpesvirus entry mediator "tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)|tumor necrosis factor receptor superfamily, member 14" "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2016-06-28 8764 ENSG00000157873 OTTHUMG00000000792 uc001ajr.4 U70321 NM_001297605 CCDS44046 Q92956 "8898196|9162061" MGI:2675303 RGD:1310115 TNFRSF14 602746 objectId:1887 CD270 HGNC:11912 "ENST00000355716.5|NM_003820.4" +HGNC:26966 TNFRSF14-AS1 TNFRSF14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 ENST00000416860.2 Antisense RNAs 1987 2017-04-27 2017-04-27 115110 ENSG00000238164 OTTHUMG00000000818 NR_037844 28418905 HGNC:26966 +HGNC:11913 TNFRSF17 TNF receptor superfamily member 17 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "BCM|CD269|TNFRSF13A" BCMA tumor necrosis factor receptor superfamily, member 17 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1992-11-20 2016-06-28 2016-10-05 608 ENSG00000048462 OTTHUMG00000129826 uc002dbv.3 Z29574 NM_001192 CCDS10552 Q02223 "1396583|8165126" MGI:1343050 RGD:1304703 TNFRSF17 109545 objectId:1889 CD269 HGNC:11913 "ENST00000053243.6|NM_001192.3" +HGNC:11914 TNFRSF18 TNF receptor superfamily member 18 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "AITR|GITR|CD357" tumor necrosis factor receptor superfamily, member 18 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 1998-12-04 2016-06-28 2016-10-05 8784 ENSG00000186891 OTTHUMG00000001414 uc001add.4 AF125304 NM_004195 "CCDS9|CCDS30552|CCDS10" Q9Y5U5 "9177197|10037686" MGI:894675 RGD:1565872 603905 objectId:1890 HGNC:11914 "ENST00000379268.7|NM_004195.3" +HGNC:11915 TNFRSF19 TNF receptor superfamily member 19 protein-coding gene gene with protein product Approved 13q12.12 13q12.12 "TAJ-alpha|TROY|TAJ|TRADE" toxicity and JNK inducer tumor necrosis factor receptor superfamily, member 19 Tumor necrosis factor receptor superfamily 782 2000-01-11 2016-06-28 2016-10-05 55504 ENSG00000127863 OTTHUMG00000016568 uc001uov.2 AB040434 NM_018647 "CCDS55893|CCDS9301|CCDS9302" Q9NS68 "10764796|10809768" MGI:1352474 RGD:1564996 606122 objectId:1891 HGNC:11915 "ENST00000248484.9|NM_148957.4" +HGNC:13469 TNFRSF21 TNF receptor superfamily member 21 protein-coding gene gene with protein product Approved 6p12.3 06p12.3 "DR6|CD358" death receptor 6 tumor necrosis factor receptor superfamily, member 21 "CD molecules|Tumor necrosis factor receptor superfamily" "471|782" 2001-07-27 2016-06-28 2016-10-05 27242 ENSG00000146072 OTTHUMG00000014796 uc003oyv.5 AF068868 NM_014452 CCDS4921 O75509 9714541 MGI:2151075 RGD:1307308 605732 objectId:1893 HGNC:13469 "ENST00000296861.2|NM_014452.5" +HGNC:11910 TNFRSF25 TNF receptor superfamily member 25 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "DR3|TRAMP|WSL-1|LARD|WSL-LR|DDR3|TR3|APO-3" TNFRSF12 "tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)|tumor necrosis factor receptor superfamily, member 25" Tumor necrosis factor receptor superfamily 782 1998-12-04 2002-12-20 2016-06-28 2016-10-05 8718 ENSG00000215788 OTTHUMG00000000831 uc001anh.4 U72763 NM_148965 "CCDS72|CCDS73|CCDS74|CCDS75|CCDS71" Q93038 "9052839|8934525" MGI:1934667 RGD:1598206 603366 objectId:1883 HGNC:11910 "ENST00000356876.8|NM_003790.3" +HGNC:11934 TNFSF4 TNF superfamily member 4 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "OX-40L|gp34|CD252" TXGP1 "tax-transcriptionally activated glycoprotein 1, 34kD|tumor necrosis factor (ligand) superfamily, member 4" "CD molecules|Tumor necrosis factor superfamily" "471|781" 1993-12-15 2017-03-02 2017-03-02 7292 ENSG00000117586 OTTHUMG00000034838 uc001giw.4 D90224 NM_001297562 "CCDS1306|CCDS72985" P23510 "1996093|8076595" MGI:104511 RGD:619816 603594 369265 ligandId:5076 CD252 HGNC:11934 "ENST00000281834.4|NM_003326.5" +HGNC:11938 TNFSF8 TNF superfamily member 8 protein-coding gene gene with protein product Approved 9q32-q33.1 09q32-q33.1 CD153 CD30LG tumor necrosis factor (ligand) superfamily, member 8 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1993-11-08 2017-03-02 2018-02-13 944 ENSG00000106952 OTTHUMG00000021025 uc004bji.3 L09753 NM_001244 "CCDS6810|CCDS75884" P32971 "8391931|9349718" MGI:88328 RGD:1590403 603875 ligandId:5080 CD153 HGNC:11938 "ENST00000223795.3|NM_001244.4" +HGNC:11939 TNFSF9 TNF superfamily member 9 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "4-1BB-L|4-1BBL|CD137L" "receptor 4-1BB ligand|homolog of mouse 4-1BB-L|CD137 ligand" tumor necrosis factor (ligand) superfamily, member 9 Tumor necrosis factor superfamily 781 1998-12-04 2017-03-02 2021-04-22 8744 ENSG00000125657 OTTHUMG00000181831 uc002mfh.2 U03398 NM_003811 CCDS12169 P41273 "8405064|8088337" MGI:1101058 RGD:727974 606182 ligandId:5081 HGNC:11939 "ENST00000245817.5|NM_003811.4" +HGNC:11925 TNFSF10 TNF superfamily member 10 protein-coding gene gene with protein product Approved 3q26 03q26 "TRAIL|Apo-2L|TL2|CD253" tumor necrosis factor (ligand) superfamily, member 10 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1998-12-04 2017-03-02 2017-03-02 8743 ENSG00000121858 OTTHUMG00000156917 uc003fid.3 U37518 NM_001190942 "CCDS3219|CCDS54680" P50591 "8777713|8663110" MGI:107414 RGD:628734 603598 ligandId:5065 CD253 HGNC:11925 "ENST00000241261.7|NM_003810.4" +HGNC:11926 TNFSF11 TNF superfamily member 11 protein-coding gene gene with protein product Approved 13q14 13q14 "TRANCE|RANKL|OPGL|ODF|CD254" tumor necrosis factor (ligand) superfamily, member 11 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1998-12-04 2017-03-02 2017-03-02 8600 ENSG00000120659 OTTHUMG00000016807 uc001uyu.3 AF013171 NM_003701 "CCDS9384|CCDS9385" O14788 "9312132|9367155" MGI:1100089 RGD:620784 602642 159048 ligandId:5066 CD254 HGNC:11926 "ENST00000398795.7|NM_003701.4" HGNC:11926 +HGNC:11927 TNFSF12 TNF superfamily member 12 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "TWEAK|DR3LG|APO3L" tumor necrosis factor (ligand) superfamily, member 12 Tumor necrosis factor superfamily 781 1998-12-04 2017-03-02 2021-04-13 8742 ENSG00000239697 OTTHUMG00000108148 uc002ghg.4 AF030099 NM_003809 CCDS11109 O43508 "9405449|9560343" MGI:1196259 RGD:1359620 LRG_1320|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1320.xml 602695 332459 ligandId:5067 HGNC:11927 "ENST00000293825.11|NM_003809.3" HGNC:11927 +HGNC:33537 TNFSF12-TNFSF13 TNFSF12-TNFSF13 readthrough other readthrough Approved 17p13.1 17p13.1 TWE-PRIL 2007-07-31 2014-11-19 407977 ENSG00000248871 OTTHUMG00000161573 uc002ghi.2 AY081051 NM_172089 CCDS11108 12411489 "MGI:1196259|MGI:3845075" HGNC:33537 +HGNC:11928 TNFSF13 TNF superfamily member 13 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "APRIL|CD256" tumor necrosis factor (ligand) superfamily, member 13 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1998-12-04 2017-03-02 2017-03-02 8741 ENSG00000161955 OTTHUMG00000108145 uc002ghk.3 AF046888 NM_003808 "CCDS11111|CCDS42256|CCDS11112|CCDS56019|CCDS56018|CCDS73957" O75888 9743536 MGI:1916833 RGD:1305871 604472 ligandId:5068 CD256 HGNC:11928 "ENST00000338784.9|NM_003808.4" +HGNC:11929 TNFSF13B TNF superfamily member 13b protein-coding gene gene with protein product Approved 13q33.3 13q33.3 "BAFF|THANK|BLYS|TALL-1|TALL1|CD257" "B-cell-activating factor|TNF and ApoL-related leukocyte expressed ligand 1|TNF homolog that activates apoptosis|B-lymphocyte stimulator" TNFSF20 tumor necrosis factor (ligand) superfamily, member 13b "CD molecules|Tumor necrosis factor superfamily" "471|781" 1999-07-19 2017-03-02 2018-11-22 10673 ENSG00000102524 OTTHUMG00000017329 uc001vqr.4 AF136293 NM_006573 "CCDS9509|CCDS45067" Q9Y275 "10331498|10359578" MGI:1344376 RGD:1561519 603969 ligandId:5069 CD257 HGNC:11929 "ENST00000375887.9|NM_006573.5" +HGNC:11930 TNFSF14 TNF superfamily member 14 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "LIGHT|LTg|HVEM-L|CD258" tumor necrosis factor (ligand) superfamily, member 14 "CD molecules|Tumor necrosis factor superfamily" "471|781" 1998-12-04 2017-03-02 2017-03-02 8740 ENSG00000125735 OTTHUMG00000181835 uc002mfk.3 AF036581 NM_001376887 "CCDS45939|CCDS12171" O43557 9462508 MGI:1355317 RGD:1588572 604520 ligandId:5070 CD258 HGNC:11930 "ENST00000675206.1|NM_001376887.1" +HGNC:11931 TNFSF15 TNF superfamily member 15 protein-coding gene gene with protein product Approved 9q32 09q32 "TL1|VEGI|TL1A|VEGI192A|MGC129934|MGC129935" "vascular endothelial cell growth inhibitor|TNF superfamily ligand TL1A|TNF ligand-related molecule 1|vascular endothelial growth inhibitor-192A" tumor necrosis factor (ligand) superfamily, member 15 Tumor necrosis factor superfamily 781 1998-12-04 2017-03-02 2017-03-02 9966 ENSG00000181634 OTTHUMG00000021011 uc004bjh.4 AF039390 NM_005118 CCDS6809 O95150 9434163 MGI:2180140 RGD:628735 604052 317398 ligandId:5071 HGNC:11931 "ENST00000374045.5|NM_005118.4" +HGNC:11932 TNFSF18 TNF superfamily member 18 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "AITRL|TL6|hGITRL" tumor necrosis factor (ligand) superfamily, member 18 Tumor necrosis factor superfamily 781 1999-01-15 2017-03-02 2017-03-02 8995 ENSG00000120337 OTTHUMG00000034835 uc001giu.3 AF117713 NM_005092 CCDS1305 Q9UNG2 "10037686|10074428" MGI:2673064 RGD:1305066 603898 ligandId:5072 HGNC:11932 "ENST00000404377.5|NM_005092.4" +HGNC:30765 TNIK TRAF2 and NCK interacting kinase protein-coding gene gene with protein product Approved 3q26.2-q26.31 03q26.2-q26.31 KIAA0551 MicroRNA protein coding host genes 1691 2004-02-26 2021-05-26 23043 ENSG00000154310 OTTHUMG00000159036 uc003fhh.3 AF172264 NM_015028 "CCDS54675|CCDS46956|CCDS54678|CCDS54677|CCDS54674|CCDS54679|CCDS54673|CCDS54676" Q9UKE5 "9628581|10521462" MGI:1916264 RGD:1561817 610005 461336 objectId:2244 HGNC:30765 "ENST00000436636.7|NM_015028.4" HGNC:30765 +HGNC:16903 TNIP1 TNFAIP3 interacting protein 1 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 "NAF1|KIAA0113|ABIN-1|VAN" "virion-associated nuclear-shuttling protein|Nef-associated factor 1 SNP" 2002-10-03 2016-01-15 10318 ENSG00000145901 OTTHUMG00000163722 uc003ltj.4 AJ011895 NM_006058 "CCDS58983|CCDS34280|CCDS58985|CCDS75359|CCDS58982|CCDS58984" Q15025 "9923610|11090181" MGI:1926194 RGD:1309380 607714 369132 HGNC:16903 "ENST00000521591.6|NM_006058.5" +HGNC:19118 TNIP2 TNFAIP3 interacting protein 2 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "ABIN-2|MGC4289|KLIP|FLIP1" 2002-10-03 2014-11-18 79155 ENSG00000168884 OTTHUMG00000090267 uc003gfg.2 BC002740 NM_024309 "CCDS54714|CCDS75093|CCDS3362" Q8NFZ5 "11390377|12933576" MGI:2386643 RGD:1307717 610669 HGNC:19118 "ENST00000315423.12|NM_024309.4" +HGNC:54936 TNIP2P1 TNIP2 pseudogene 1 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-29 2020-04-29 100132831 ENSG00000237661 NR_027761 +HGNC:19315 TNIP3 TNFAIP3 interacting protein 3 protein-coding gene gene with protein product Approved 4q27 04q27 "LIND|FLJ21162|ABIN-3" 2002-11-28 2015-08-26 79931 ENSG00000050730 OTTHUMG00000132969 uc010ing.4 AJ320534 NM_024873 "CCDS58926|CCDS58925|CCDS3718" Q96KP6 11345586 MGI:3041165 RGD:1588732 608019 HGNC:19315 "ENST00000057513.8|NM_024873.6" +HGNC:11940 TNK1 tyrosine kinase non receptor 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 KOS1 tyrosine kinase, non-receptor, 1 TNK family tyrosine kinases 1643 1998-12-03 2016-04-28 2020-06-05 8711 ENSG00000174292 OTTHUMG00000178174 uc002ggj.5 U43408 NM_003985 "CCDS45602|CCDS58510" Q13470 8632913 MGI:1930958 RGD:1310113 608076 objectId:2245 HGNC:11940 "ENST00000688331.1|NM_003985.6" +HGNC:19297 TNK2 tyrosine kinase non receptor 2 protein-coding gene gene with protein product Approved 3q29 03q29 "p21cdc42Hs|ACK|ACK1" activated Cdc42-associated kinase 1 tyrosine kinase, non-receptor, 2 "TNK family tyrosine kinases|MicroRNA protein coding host genes" "1643|1691" 2005-01-19 2016-04-28 2016-04-28 10188 ENSG00000061938 OTTHUMG00000155737 uc003fvu.2 L13738 NM_005781 "CCDS77875|CCDS33928" Q07912 "8497321|14506255" MGI:1858308 RGD:1305957 606994 392281 objectId:2246 HGNC:19297 "ENST00000672887.2|NM_001382273.1" HGNC:19297 +HGNC:49093 TNK2-AS1 TNK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 Antisense RNAs 1987 2013-09-02 2021-09-22 100128262 ENSG00000224614 OTTHUMG00000155738 AK127609 NR_145450 34494305 TNK2-AS1 HGNC:49093 +HGNC:11941 TNKS tankyrase protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "TIN1|TINF1|TNKS1|PARP-5a|PARP5A|pART5|ARTD5" TRF1-interacting ankyrin-related ADP-ribose polymerase 1 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase "Ankyrin repeat domain containing|Poly(ADP-ribose) polymerases|Sterile alpha motif domain containing|MicroRNA protein coding host genes" "403|684|760|1691" 1999-01-08 2016-03-01 2020-01-02 8658 ENSG00000173273 OTTHUMG00000090481 uc003wss.4 AF082556 NM_003747 CCDS5974 O95271 "9822378|10198177" MGI:1341087 RGD:1308784 603303 objectId:3108 HGNC:11941 "ENST00000310430.11|NM_003747.3" +HGNC:19081 TNKS1BP1 tankyrase 1 binding protein 1 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "TAB182|KIAA1741|FLJ45975" tankyrase 1 binding protein 1, 182kDa CCR4-NOT transcription complex 1023 2002-08-06 2015-11-09 2019-06-14 85456 ENSG00000149115 OTTHUMG00000167022 uc001njs.4 AB051528 NM_033396 CCDS7951 Q9C0C2 11854288 MGI:2446193 RGD:1312021 607104 HGNC:19081 "ENST00000358252.8|NM_033396.3" +HGNC:15677 TNKS2 tankyrase 2 protein-coding gene gene with protein product Approved 10q23.32 10q23.32 "TNKL|TANK2|PARP-5b|PARP-5c|PARP5B|PARP5C|pART6|ARTD6" TRF1-interacting ankyrin-related ADP-ribose polymerase 2 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 "Ankyrin repeat domain containing|Poly(ADP-ribose) polymerases|Sterile alpha motif domain containing" "403|684|760" 2001-05-10 2016-03-01 2020-01-02 80351 ENSG00000107854 OTTHUMG00000018747 uc001khp.4 AF342982 NM_025235 CCDS7417 Q9H2K2 MGI:1921743 RGD:1305026 607128 objectId:3109 HGNC:15677 "ENST00000371627.5|NM_025235.4" +HGNC:45173 TNKS2-DT TNKS2 divergent transcript non-coding RNA RNA, long non-coding Approved 10q23.32 10q23.32 TNKS2-AS1 "TNKS2 antisense RNA 1|TNKS2 antisense RNA 1 (head to head)" Divergent transcripts 1990 2013-03-01 2021-07-28 2021-07-28 2021-07-28 100507633 ENSG00000228701 OTTHUMG00000018750 uc031wof.2 NR_108070 TNKS2-AS1 HGNC:45173 +HGNC:17757 TNMD tenomodulin protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "myodulin|ChM1L|tendin|TEM|BRICD4" BRICHOS domain containing 4 BRICHOS domain containing 457 2004-06-09 2020-04-02 64102 ENSG00000000005 OTTHUMG00000022001 uc004efy.5 AF191770 NM_022144 CCDS14469 Q9H2S6 MGI:1929885 RGD:620938 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TNMD 300459 HGNC:17757 "ENST00000373031.5|NM_022144.3" +HGNC:22942 TNN tenascin N protein-coding gene gene with protein product Approved 1q25.1 01q25.1 TNW "tenascin-W|tenascin W" Tenascins 1983 2003-07-25 2019-10-16 63923 ENSG00000120332 OTTHUMG00000034882 uc001gkl.1 AK127044 NM_022093 CCDS30943 Q9UQP3 MGI:2665790 RGD:1306002 617472 HGNC:22942 "ENST00000239462.9|NM_022093.2" +HGNC:11943 TNNC1 troponin C1, slow skeletal and cardiac type protein-coding gene gene with protein product Approved 3p21.1 03p21.1 TNNC troponin C type 1 (slow) "EF-hand domain containing|Troponin complex subunits" "863|1219" 1989-12-11 2016-02-16 2021-05-26 7134 ENSG00000114854 OTTHUMG00000158572 uc003deb.4 NM_003280 CCDS2857 P63316 MGI:98779 RGD:1309921 LRG_378|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_378.xml 191040 159055 HGNC:11943 "ENST00000232975.8|NM_003280.3" HGNC:11943 +HGNC:11944 TNNC2 troponin C2, fast skeletal type protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "FAP85|CFAP85" troponin C type 2 (fast) "EF-hand domain containing|Troponin complex subunits|Cilia and flagella associated" "863|1219|1491" 1995-05-25 2016-02-16 2021-05-26 7125 ENSG00000101470 OTTHUMG00000032623 uc002xpr.4 NM_003279 CCDS13375 P02585 2373703 MGI:98780 RGD:1311973 191039 HGNC:11944 "ENST00000372555.8|NM_003279.3" HGNC:11944 +HGNC:11945 TNNI1 troponin I1, slow skeletal type protein-coding gene gene with protein product Approved 1q32.1 01q32.1 troponin I type 1 (skeletal, slow) Troponin complex subunits 1219 1989-12-11 2016-02-16 2016-10-05 7135 ENSG00000159173 OTTHUMG00000035736 uc057oic.1 BC012600 NM_003281 CCDS1411 P19237 "2365354|8144655" MGI:105073 RGD:621765 191042 HGNC:11945 "ENST00000361379.9|NM_003281.4" +HGNC:11946 TNNI2 troponin I2, fast skeletal type protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "FSSV|DA2B" "troponin I, fast-twitch skeletal muscle isoform|troponin I fast twitch 2" AMCD2B "troponin I, skeletal, fast|arthrogryposis multiplex congenita, distal, type 2B|troponin I type 2 (skeletal, fast)" Troponin complex subunits 1219 1989-12-11 2016-02-16 2021-05-26 7136 ENSG00000130598 OTTHUMG00000012253 uc057xue.1 L21715 NM_003282 "CCDS31333|CCDS53594" P48788 "9016781|12592607" MGI:105070 RGD:62050 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TNNI2|LRG_851|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_851.xml" 191043 120182 HGNC:11946 "ENST00000381911.6|NM_003282.4" HGNC:11946 +HGNC:11947 TNNI3 troponin I3, cardiac type protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "TNNC1|CMH7" CMD2A "cardiomyopathy, dilated 2A (autosomal recessive)|troponin I type 3 (cardiac)|troponin I type 3" Troponin complex subunits 1219 1989-12-11 2016-02-16 2021-05-26 7137 ENSG00000129991 OTTHUMG00000180589 uc002qjg.5 M64247 NM_000363 CCDS42628 P19429 "9605869|9241277|10806205" MGI:98783 RGD:62052 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_432|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_432.xml" 191044 120184 HGNC:11947 "ENST00000344887.10|NM_000363.5" HGNC:11947 +HGNC:19661 TNNI3K TNNI3 interacting kinase protein-coding gene gene with protein product Approved 1p31.1 01p31.1 CARK Ankyrin repeat domain containing 403 2004-01-19 2021-05-26 51086 ENSG00000116783 OTTHUMG00000171318 uc001dgf.3 AF116826 NM_015978 CCDS664 Q59H18 12721663 MGI:2443276 RGD:727908 LRG_678|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_678.xml 613932 444714 objectId:2247 HGNC:19661 "ENST00000326637.8|NM_015978.3" HGNC:19661 +HGNC:11948 TNNT1 troponin T1, slow skeletal type protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ANM|STNT|TNT|TNTS|FLJ98147|MGC104241|NEM5" "slow skeletal muscle troponin T|troponin T1, skeletal, slow|nemaline myopathy type 5" troponin T type 1 (skeletal, slow) Troponin complex subunits 1219 1990-09-10 2016-02-16 2021-05-26 7138 ENSG00000105048 OTTHUMG00000180542 uc002qjb.5 NM_003283 "CCDS59421|CCDS46185|CCDS12917" P13805 1505979 MGI:1333868 RGD:621852 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TNNT1|LRG_679|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_679.xml" 191041 120188 HGNC:11948 "ENST00000588981.6|NM_003283.6" HGNC:11948 +HGNC:11949 TNNT2 troponin T2, cardiac type protein-coding gene gene with protein product Approved 1q32.1 01q32.1 CMPD2 "CMH2|CMD1D" "cardiomyopathy, hypertrophic 2|cardiomyopathy, dilated 1D (autosomal dominant)|troponin T type 2 (cardiac)" Troponin complex subunits 1219 1993-09-27 2016-02-16 2021-05-26 7139 ENSG00000118194 OTTHUMG00000035733 uc057ohe.1 X74819 NM_000364 "CCDS30968|CCDS73002|CCDS60390|CCDS73003|CCDS30969" P45379 "8088824|8205619|9482583" MGI:104597 RGD:3882 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_431|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_431.xml" 191045 120190 HGNC:11949 "ENST00000656932.1|NM_001276345.2" HGNC:11949 +HGNC:11950 TNNT3 troponin T3, fast skeletal type protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "AMCD2B|DA2B|FSSV|DKFZp779M2348" troponin-T3, skeletal, fast "troponin T3, skeletal, fast|troponin T type 3 (skeletal, fast)" Troponin complex subunits 1219 1994-07-25 2016-02-16 2021-05-26 7140 ENSG00000130595 OTTHUMG00000012475 uc001luu.5 M21984 NM_006757 "CCDS41595|CCDS7727|CCDS86164|CCDS41596|CCDS41594" P45378 8172653 MGI:109550 RGD:3883 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TNNT3|LRG_850|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_850.xml" 600692 120192 HGNC:11950 "ENST00000278317.11|NM_006757.4" HGNC:11950 +HGNC:11951 TNP1 transition protein 1 protein-coding gene gene with protein product Approved 2q35 02q35 spermatid nuclear transition protein 1 transition protein 1 (during histone to protamine replacement) 1990-03-14 2015-11-19 2016-10-05 7141 ENSG00000118245 OTTHUMG00000133057 uc002vgk.4 NM_003284 CCDS2406 P09430 2249851 MGI:98784 RGD:3884 190231 HGNC:11951 "ENST00000236979.2|NM_003284.4" +HGNC:11952 TNP2 transition protein 2 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 TP2 transition protein 2 (during histone to protamine replacement) 1990-03-14 2016-07-19 2020-04-01 7142 ENSG00000178279 OTTHUMG00000172315 uc002das.4 NM_005425 CCDS45410 Q05952 "1395729|2250010" MGI:98785 RGD:3885 190232 HGNC:11952 "ENST00000312693.4|NM_005425.5" +HGNC:6401 TNPO1 transportin 1 protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "MIP|TRN|IPO2|MIP1" importin 2 KPNB2 karyopherin (importin) beta 2 "Importins|Armadillo like helical domain containing|MicroRNA protein coding host genes" "596|1492|1691" 1997-04-21 2004-01-30 2004-01-29 2016-10-05 3842 ENSG00000083312 OTTHUMG00000100967 uc003kci.5 U70322 NM_002270 "CCDS43329|CCDS4016" Q92973 "8808633|9144189" MGI:2681523 RGD:1308372 602901 HGNC:6401 "ENST00000337273.10|NM_002270.4" HGNC:6401 +HGNC:40328 TNPO1-DT TNPO1 divergent transcript non-coding RNA RNA, long non-coding Approved 5q13.2 05q13.2 Divergent transcripts 1990 2021-04-23 2021-04-23 121232377 ENSG00000249085 OTTHUMG00000162494 XR_007058815 +HGNC:45120 TNPO1P1 transportin 1 pseudogene 1 pseudogene pseudogene Approved 10q23.1 10q23.1 2013-02-15 2013-02-15 100418919 ENSG00000225423 OTTHUMG00000018640 NG_025528 PGOHUM00000238863 HGNC:45120 +HGNC:45121 TNPO1P2 transportin 1 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2013-02-15 2013-05-20 252968 ENSG00000230662 OTTHUMG00000059250 NG_001592 PGOHUM00000237258 HGNC:45121 +HGNC:50718 TNPO1P3 transportin 1 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2014-06-12 2014-06-12 339257 ENSG00000229586 OTTHUMG00000178885 NG_002721 PGOHUM00000264449 HGNC:50718 +HGNC:19998 TNPO2 transportin 2 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "IPO3|KPNB2B|FLJ12155|TRN2" "importin 3|karyopherin beta 2b" "Importins|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes" "596|1492|1835" 2003-12-09 2009-01-12 2020-04-01 30000 ENSG00000105576 OTTHUMG00000180333 uc002muq.4 AF019039 NM_013433 "CCDS45992|CCDS45991" O14787 "9298975|12384575" MGI:2384849 RGD:1310356 603002 HGNC:19998 "ENST00000425528.6|NM_001382241.1" +HGNC:17103 TNPO3 transportin 3 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "TRN-SR|MTR10A|TRN-SR2|IPO12" importin 12 LGMD1F limb girdle muscular dystrophy 1F (autosomal dominant) "Importins|Armadillo like helical domain containing" "596|1492" 2003-12-09 2016-10-05 23534 ENSG00000064419 OTTHUMG00000158409 uc003vol.3 AF145029 NM_012470 "CCDS55162|CCDS5809" Q9Y5L0 "10366588|10713112|23543484|23667635" MGI:1196412 RGD:1308938 610032 239874 HGNC:17103 "ENST00000265388.10|NM_012470.4" HGNC:17103 +HGNC:55053 TNPO3P1 TNPO3 pseudogene 1 pseudogene pseudogene Approved Xq23 Xq23 2020-06-04 2020-06-04 100131029 ENSG00000271686 NG_022629 +HGNC:11953 TNR tenascin R protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "restrictin|janusin" Tenascins 1983 1995-10-24 2012-07-12 2016-10-05 7143 ENSG00000116147 OTTHUMG00000034876 uc009wwu.2 X98085 NM_003285 CCDS1318 Q92752 "8626505|8940128" MGI:99516 RGD:3886 601995 HGNC:11953 "ENST00000367674.7|NM_003285.3" +HGNC:41391 TNR-IT1 TNR intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1q25.1 01q25.1 TNR intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874256 ENSG00000235628 OTTHUMG00000034946 uc057nmr.1 TNR-IT1 +HGNC:11969 TNRC6A trinucleotide repeat containing adaptor 6A protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "CAGH26|KIAA1460|GW182" TNRC6 "trinucleotide repeat containing 6|trinucleotide repeat containing 6A" TNRC6 adaptor family 2051 2000-01-27 2004-12-17 2019-01-11 2021-11-01 27327 ENSG00000090905 OTTHUMG00000096999 uc002dmm.4 U80739 NM_020847 "CCDS81959|CCDS10624" Q8NDV7 "9225980|23150874" MGI:2385292 RGD:1307268 610739 HGNC:11969 "ENST00000395799.8|NM_014494.4" +HGNC:29190 TNRC6B trinucleotide repeat containing adaptor 6B protein-coding gene gene with protein product Approved 22q13.1 22q13.1 KIAA1093 trinucleotide repeat containing 6B "Armadillo like helical domain containing|TNRC6 adaptor family" "1492|2051" 2004-12-17 2019-01-11 2021-11-01 23112 ENSG00000100354 OTTHUMG00000151114 uc011aor.3 AB029016 NM_001024843 "CCDS46713|CCDS46712|CCDS54533" Q9UPQ9 29791863 MGI:2443730 RGD:621428 610740 HGNC:29190 "ENST00000454349.7|NM_001162501.2" HGNC:29190 +HGNC:55373 TNRC6B-DT TNRC6B divergent transcript non-coding RNA RNA, long non-coding Approved 22q13.1 22q13.1 Divergent transcripts 1990 2020-11-11 2020-11-11 114841040 ENSG00000261202 NR_163486 +HGNC:29318 TNRC6C trinucleotide repeat containing adaptor 6C protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1582|FLJ20015" trinucleotide repeat containing 6C TNRC6 adaptor family 2051 2004-12-17 2019-01-11 2021-11-01 57690 ENSG00000078687 OTTHUMG00000132642 uc060krg.1 AL834429 NM_018996 "CCDS45798|CCDS45799" Q9HCJ0 "19470757|26106978" MGI:2443265 RGD:1310027 610741 HGNC:29318 +HGNC:11961 TNRC17 trinucleotide repeat containing 17 non-coding RNA RNA, long non-coding Approved 2q21.3 02q21.3 CAGL234 Long non-coding RNAs with non-systematic symbols 1992 2000-01-27 2019-06-28 27321 U80752 NR_146582 9225980 HGNC:11961 +HGNC:11962 TNRC18 trinucleotide repeat containing 18 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "CAGL79|TNRC18A|KIAA1856" 2000-01-27 2015-08-26 84629 ENSG00000182095 OTTHUMG00000151831 uc003soi.5 U80753 NM_001080495 CCDS47534 O15417 9225980 MGI:3648294 RGD:1307540 HGNC:11962 "ENST00000430969.6|NM_001080495.3" +HGNC:43881 TNRC18P1 trinucleotide repeat containing 18 pseudogene 1 pseudogene pseudogene Approved 4q31.21 04q31.21 2012-04-17 2015-02-27 2015-02-27 644962 ENSG00000249661 OTTHUMG00000161424 NR_077215 PGOHUM00000245713 HGNC:43881 +HGNC:34014 TNRC18P2 trinucleotide repeat containing 18 pseudogene 2 pseudogene pseudogene Approved 7q11.21 07q11.21 TNRC18B trinucleotide repeat containing 18B 2008-12-10 2012-04-17 2012-04-17 2012-04-17 27320 ENSG00000223566 OTTHUMG00000156501 NG_009899 PGOHUM00000232790 HGNC:34014 +HGNC:34015 TNRC18P3 trinucleotide repeat containing 18 pseudogene 3 pseudogene pseudogene Approved 7p11.2 07p11.2 TNRC18C trinucleotide repeat containing 18C (pseudogene) 2008-12-10 2012-04-17 2012-04-17 2014-11-19 340221 ENSG00000189166 OTTHUMG00000156098 NG_009812 PGOHUM00000233275 HGNC:34015 +HGNC:11973 TNS1 tensin 1 protein-coding gene gene with protein product Approved 2q35 02q35 "DKFZp586K0617|PPP1R155" protein phosphatase 1, regulatory subunit 155 "TNS|MXRA6" "tensin|matrix-remodelling associated 6" "Protein phosphatase 1 regulatory subunits|SH2 domain containing|C2 tensin-type domain containing|PTEN protein phosphatases|MicroRNA protein coding host genes" "694|741|837|902|1691" 1995-03-30 2005-05-13 2005-05-13 2016-10-05 7145 ENSG00000079308 OTTHUMG00000133056 uc002vgt.3 AB209238 NM_022648 "CCDS77529|CCDS77528|CCDS2407" Q9HBL0 MGI:104552 RGD:68427 600076 HGNC:11973 "ENST00000682258.1|NM_001387777.1" +HGNC:40589 TNS1-AS1 TNS1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 Antisense RNAs 1987 2020-04-01 2020-04-01 105373878 ENSG00000223923 OTTHUMG00000155260 NR_135524 +HGNC:19737 TNS2 tensin 2 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "KIAA1075|C1-TEN" TENC1 "tensin like C1 domain-containing phosphatase|tensin like C1 domain containing phosphatase (tensin 2)" "SH2 domain containing|C2 tensin-type domain containing|PTEN protein phosphatases|MicroRNA protein coding host genes" "741|837|902|1691" 2002-12-09 2015-01-09 2015-01-09 2016-11-10 23371 ENSG00000111077 OTTHUMG00000169730 AF518729 NM_170754 "CCDS8843|CCDS8842|CCDS8844" Q63HR2 MGI:2387586 RGD:1310917 607717 HGNC:19737 "ENST00000314250.11|NM_170754.4" +HGNC:27464 TNS2-AS1 TNS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.13 12q13.13 RP11-983P16.4 Antisense RNAs 1987 2021-12-06 2021-12-06 283335 ENSG00000257337 NR_033854 +HGNC:21616 TNS3 tensin 3 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "TEM6|H_NH0549I23.2|FLJ13732" tumor endothelial marker 6 TENS1 tensin-like SH2 domain-containing 1 "SH2 domain containing|C2 tensin-type domain containing" "741|837" 2003-08-27 2005-05-13 2005-05-13 2014-11-19 64759 ENSG00000136205 OTTHUMG00000074075 uc003tnw.3 AF378756 NM_022748 CCDS5506 Q68CZ2 11559528 MGI:2443012 RGD:1564174 606825 HGNC:21616 "ENST00000311160.14|NM_022748.12" +HGNC:24352 TNS4 tensin 4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 CTEN C terminal tensin like SH2 domain containing 741 2005-05-13 2014-11-19 84951 ENSG00000131746 OTTHUMG00000133330 uc010cxb.4 AF417488 NM_032865 CCDS11368 Q8IZW8 "12154022|12711115" MGI:2144377 RGD:1310402 608385 HGNC:24352 "ENST00000254051.11|NM_032865.6" +HGNC:11975 TNXA tenascin XA (pseudogene) pseudogene pseudogene Approved 6p21.33 06p21.33 "XA|D6S103E|HXBL" TNX tenascin XA 1995-05-08 2011-04-15 2016-10-05 7146 ENSG00000248290 OTTHUMG00000031024 AF077974 NR_001284 Q16473 "2475872|1988494" RGD:3887 PGOHUM00000260124 HGNC:11975 +HGNC:11976 TNXB tenascin XB protein-coding gene gene with protein product Approved 6p21.33-p21.32 06p21.33-p21.32 "TNXBS|XBS|XB|HXBL|TN-X|TNX" "Hexabrachion-like protein|tenascin-X" "TNXB1|TNXB2" Tenascins 1983 2000-07-25 2022-01-19 7148 ENSG00000168477 OTTHUMG00000031088 uc063nnw.1 X71923 NM_019105 CCDS4736 P22105 8530023 MGI:1932137 RGD:1594402 600985 120194 HGNC:11976 "ENST00000644971.2|NM_001365276.2" HGNC:11976 +HGNC:11979 TOB1 transducer of ERBB2, 1 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "TOB|TROB|APRO5" TROB1 BTG/Tob family 1309 2000-06-01 2016-07-04 10140 ENSG00000141232 OTTHUMG00000162277 uc021uad.2 D38305 NM_001243877 CCDS11576 P50616 "8632892|17785442" MGI:1349721 RGD:621126 605523 HGNC:11979 "ENST00000499247.3|NM_005749.4" +HGNC:44340 TOB1-AS1 TOB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 TOB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-08-14 2012-08-15 2012-10-12 400604 ENSG00000229980 OTTHUMG00000132428 uc060hnf.1 "BC039664|BP421960|BQ222352|BU600024" NR_038458 TOB1-AS1 HGNC:44340 +HGNC:11980 TOB2 transducer of ERBB2, 2 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "TOBL|TOB4|bK223H9|APRO5" TROB2 BTG/Tob family 1309 2000-06-01 2016-07-04 10766 ENSG00000183864 OTTHUMG00000150970 uc003azz.2 D64109 NM_016272 CCDS14015 Q14106 "10602502|10591208" MGI:1888525 RGD:1359722 607396 HGNC:11980 "ENST00000327492.4|NM_016272.4" +HGNC:13986 TOB2P1 transducer of ERBB2, 2 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "TOB4p|p373c6.3" TOB2P transducer of ERBB2, 2 pseudogene 2003-11-27 2010-02-26 2010-02-26 2014-11-19 222699 ENSG00000176933 OTTHUMG00000014512 BC050562 NR_002936 12477932 PGOHUM00000243100 HGNC:13986 +HGNC:15954 TOE1 target of EGR1, exonuclease protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "hCaf1z|TOE-1" target of EGR1, member 1 (nuclear) PARN exonuclease family 2052 2001-08-24 2017-09-21 2021-05-26 114034 ENSG00000132773 OTTHUMG00000007678 uc009vxq.4 NM_025077 CCDS521 Q96GM8 12562764 MGI:1915526 RGD:1309094 613931 HGNC:15954 "ENST00000372090.6|NM_025077.4" HGNC:15954 +HGNC:19959 TOGARAM1 TOG array regulator of axonemal microtubules 1 protein-coding gene gene with protein product Approved 14q21.2 14q21.2 "Crescerin-1|crescerin" crescerin "KIAA0423|FAM179B" "KIAA0423|family with sequence similarity 179, member B|family with sequence similarity 179 member B" TOG domain containing 1495 2003-11-21 2017-01-13 2017-01-13 2018-11-19 23116 ENSG00000198718 OTTHUMG00000140264 uc001wvv.4 AB007883 NM_001308120 "CCDS76676|CCDS9681" Q9Y4F4 26378256 MGI:2684313 RGD:1310474 617618 HGNC:19959 "ENST00000361462.7|NM_001308120.2" HGNC:19959 +HGNC:33715 TOGARAM2 TOG array regulator of axonemal microtubules 2 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "FLJ43249|LOC165186|Crescerin-2" crescerin 2 FAM179A "family with sequence similarity 179, member A|family with sequence similarity 179 member A" TOG domain containing 1495 2008-07-21 2017-01-13 2017-01-13 2017-01-13 165186 ENSG00000189350 OTTHUMG00000128432 uc010ezl.4 "AK125239|AK125744" NM_199280 CCDS1769 Q6ZUX3 "16344560|26378256" MGI:2443498 RGD:1310677 HGNC:33715 "ENST00000379558.5|NM_199280.4" +HGNC:16476 TOLLIP toll interacting protein protein-coding gene gene with protein product Approved 11p15.5 11p15.5 IL-1RAcPIP C2 domain containing 823 2003-03-13 2016-10-05 54472 ENSG00000078902 OTTHUMG00000133333 uc001lte.4 AJ242972 NM_019009 "CCDS81533|CCDS81534|CCDS7723|CCDS81532" Q9H0E2 "9426216|10854325" MGI:1891808 RGD:1304676 606277 HGNC:16476 "ENST00000317204.11|NM_019009.4" +HGNC:27403 TOLLIP-DT TOLLIP divergent transcript non-coding RNA RNA, long non-coding Approved 11p15.5 11p15.5 TOLLIP-AS1 TOLLIP antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-31 2021-03-17 2021-03-17 2021-03-17 255512 ENSG00000255153 OTTHUMG00000166230 NR_029409 12477932 TOLLIP-AS1 HGNC:27403 +HGNC:11982 TOM1 target of myb1 membrane trafficking protein protein-coding gene gene with protein product Approved 22q12.3 22q12.3 "target of myb1 (chicken) homolog|target of myb1 (chicken)" MicroRNA protein coding host genes 1691 1998-10-14 2015-06-18 2016-10-05 10043 ENSG00000100284 OTTHUMG00000150958 uc003ann.3 AJ006973 NM_005488 "CCDS46697|CCDS46696|CCDS13913|CCDS46698" O60784 "10329004|15047686|20604899" MGI:1338026 RGD:1308024 604700 HGNC:11982 "ENST00000449058.7|NM_005488.3" HGNC:11982 +HGNC:11983 TOM1L1 target of myb1 like 1 membrane trafficking protein protein-coding gene gene with protein product Approved 17q22 17q22 SRCASM "target of myb1 (chicken) homolog-like 1|target of myb1 (chicken)-like 1" 1998-10-14 2015-06-18 2019-08-20 10040 ENSG00000141198 OTTHUMG00000177816 uc002iud.3 AJ010071 NM_005486 "CCDS11582|CCDS82161|CCDS82160" O75674 "10329004|15611048|17977829" MGI:1919193 RGD:1562626 604701 HGNC:11983 "ENST00000575882.6|NM_005486.3" +HGNC:11984 TOM1L2 target of myb1 like 2 membrane trafficking protein protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "target of myb1 (chicken) homolog-like 1|target of myb1-like 2 (chicken)" 1999-04-16 2015-06-18 2015-09-08 146691 ENSG00000175662 OTTHUMG00000059353 uc002grz.5 AJ230803 NM_001033551 "CCDS74003|CCDS32584|CCDS74000|CCDS74001|CCDS42270|CCDS74002" Q6ZVM7 10036180 MGI:2443306 RGD:1306728 615519 HGNC:11984 "ENST00000379504.8|NM_001082968.2" +HGNC:31369 TOMM5 translocase of outer mitochondrial membrane 5 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "bA613M10.3|Tom5" C9orf105 "chromosome 9 open reading frame 105|translocase of outer mitochondrial membrane 5 homolog (yeast)" Translocase of outer mitochondrial membrane complex 1229 2004-06-02 2008-08-21 2016-02-26 2016-02-26 401505 ENSG00000175768 OTTHUMG00000019923 uc010mlx.4 BC029423 NM_001001790 "CCDS43803|CCDS47967|CCDS47968" Q8N4H5 18331822 MGI:1915762 RGD:1596808 616169 HGNC:31369 "ENST00000321301.7|NM_001001790.3" +HGNC:34528 TOMM6 translocase of outer mitochondrial membrane 6 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "OBTP|Tom6" over-expressed breast tumor protein translocase of outer mitochondrial membrane 6 homolog (yeast) Translocase of outer mitochondrial membrane complex 1229 2008-08-21 2016-02-26 2016-02-26 100188893 ENSG00000214736 OTTHUMG00000137505 uc011dug.2 AF216754 NM_001134493 CCDS47424 Q96B49 18331822 MGI:1913369 RGD:1583567 616168 HGNC:34528 "ENST00000398881.4|NM_001382294.1" +HGNC:21648 TOMM7 translocase of outer mitochondrial membrane 7 protein-coding gene gene with protein product Approved 7p15.3 07p15.3 Tom7 translocase of outer mitochondrial membrane 7 homolog (yeast) Translocase of outer mitochondrial membrane complex 1229 2003-07-21 2016-02-26 2016-02-26 54543 ENSG00000196683 OTTHUMG00000094805 uc003svk.6 AF150733 NM_019059 CCDS5376 Q9P0U1 "10647823|12198123" MGI:1913419 RGD:1591393 607980 HGNC:21648 "ENST00000358435.9|NM_019059.5" +HGNC:20947 TOMM20 translocase of outer mitochondrial membrane 20 protein-coding gene gene with protein product Approved 1q42.3 01q42.3 "KIAA0016|TOM20|MOM19|MAS20" translocase of outer mitochondrial membrane 20 homolog type II translocase of outer mitochondrial membrane 20 homolog (yeast) "Translocase of outer mitochondrial membrane complex|Small nucleolar RNA protein coding host genes" "1229|1835" 2003-10-13 2016-02-26 2016-10-05 9804 ENSG00000173726 OTTHUMG00000039619 uc001hwl.4 NM_014765 CCDS1603 Q15388 "7498524|7589431|15733919" MGI:1915202 RGD:708467 601848 HGNC:20947 "ENST00000366607.5|NM_014765.3" +HGNC:33752 TOMM20L translocase of outer mitochondrial membrane 20 like protein-coding gene gene with protein product Approved 14q23.1 14q23.1 UNQ9438 translocase of outer mitochondrial membrane 20 homolog type I translocase of outer mitochondrial membrane 20 homolog (yeast)-like 2008-07-18 2016-02-26 2016-02-26 387990 ENSG00000196860 OTTHUMG00000140323 uc001xdr.2 NM_207377 CCDS9734 Q6UXN7 15733919 MGI:1922516 RGD:1586305 HGNC:33752 "ENST00000360945.7|NM_207377.3" +HGNC:55443 TOMM20L-DT TOMM20L divergent transcript non-coding RNA RNA, long non-coding Approved 14q23.1 14q23.1 Divergent transcripts 1990 2021-01-14 2021-01-14 105370522 ENSG00000258658 XR_943913 +HGNC:50518 TOMM20P1 TOMM20 pseudogene 1 pseudogene pseudogene Approved 11q13.5 11q13.5 translocase of outer mitochondrial membrane 20 homolog (yeast) pseudogene 1 2014-05-19 2014-12-17 2014-12-17 105369446 ENSG00000224829 OTTHUMG00000165137 NG_046610 PGOHUM00000242811 HGNC:50518 +HGNC:50519 TOMM20P2 TOMM20 pseudogene 2 pseudogene pseudogene Approved 17q12 17q12 translocase of outer mitochondrial membrane 20 homolog (yeast) pseudogene 2 2014-05-19 2014-12-17 2014-12-17 101927540 ENSG00000255987 OTTHUMG00000168389 PGOHUM00000237036 HGNC:50519 +HGNC:50520 TOMM20P3 TOMM20 pseudogene 3 pseudogene pseudogene Approved 18p11.22 18p11.22 translocase of outer mitochondrial membrane 20 homolog (yeast) pseudogene 3 2014-05-19 2014-12-17 2014-12-17 106480301 ENSG00000263935 OTTHUMG00000179014 NG_044264 PGOHUM00000234849 HGNC:50520 +HGNC:50522 TOMM20P4 TOMM20 pseudogene 4 pseudogene pseudogene Approved Xq13.2 Xq13.2 translocase of outer mitochondrial membrane 20 homolog (yeast) pseudogene 4 2014-05-19 2014-12-17 2014-12-17 100129272 ENSG00000230311 OTTHUMG00000021830 NG_030163 PGOHUM00000241843 HGNC:50522 +HGNC:18002 TOMM22 translocase of outer mitochondrial membrane 22 protein-coding gene gene with protein product Approved 22q13.1 22q13.1 TOM22 translocase of outer mitochondrial membrane 22 homolog (yeast) Translocase of outer mitochondrial membrane complex 1229 2002-04-30 2016-02-26 2016-02-26 56993 ENSG00000100216 OTTHUMG00000150991 uc003awe.4 AB040119 NM_020243 CCDS13975 Q9NS69 "10982837|10900208" MGI:2450248 RGD:1303260 607046 HGNC:18002 "ENST00000216034.6|NM_020243.5" +HGNC:38736 TOMM22P1 TOMM22 pseudogene 1 pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-07-29 2014-12-17 2014-12-17 100499416 ENSG00000237427 OTTHUMG00000036539 NG_023455 PGOHUM00000234008 HGNC:38736 +HGNC:38737 TOMM22P2 TOMM22 pseudogene 2 pseudogene pseudogene Approved Yp11.31 Yp11.31 2010-07-29 2014-12-17 2014-12-17 100499417 ENSG00000232195 OTTHUMG00000036083 NG_023456 PGOHUM00000233890 HGNC:38737 +HGNC:38739 TOMM22P3 TOMM22 pseudogene 3 pseudogene pseudogene Approved 13q13.1 13q13.1 2010-07-29 2014-12-17 2014-12-17 122038 ENSG00000227604 OTTHUMG00000016705 NG_023453 PGOHUM00000248357 HGNC:38739 +HGNC:38740 TOMM22P4 TOMM22 pseudogene 4 pseudogene pseudogene Approved 4q32.2 04q32.2 2010-07-29 2014-12-17 2014-12-17 100874517 ENSG00000248396 OTTHUMG00000161382 NG_032214 PGOHUM00000246123 HGNC:38740 +HGNC:38741 TOMM22P5 TOMM22 pseudogene 5 pseudogene pseudogene Approved 10q26.11 10q26.11 2010-07-29 2014-12-17 2014-12-17 390007 ENSG00000225155 OTTHUMG00000019135 NG_023452 PGOHUM00000238936 HGNC:38741 +HGNC:38742 TOMM22P6 TOMM22 pseudogene 6 pseudogene pseudogene Approved 3q26.1 03q26.1 2010-07-29 2014-12-17 2014-12-17 100287573 ENSG00000241874 OTTHUMG00000159087 NG_023451 PGOHUM00000237847 HGNC:38742 +HGNC:15746 TOMM34 translocase of outer mitochondrial membrane 34 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "TOM34|HTOM34P" outer mitochondrial membrane translocase (34kD) Tetratricopeptide repeat domain containing 769 2001-09-17 2016-10-05 10953 ENSG00000025772 OTTHUMG00000032552 uc002xmy.4 U58970 NM_006809 CCDS13340 Q15785 9324309 MGI:1914395 RGD:1309029 616049 HGNC:15746 "ENST00000372813.4|NM_006809.5" +HGNC:18001 TOMM40 translocase of outer mitochondrial membrane 40 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "PEREC1|D19S1177E|C19orf1|TOM40|PER-EC1" translocase of outer mitochondrial membrane 40 homolog (yeast) Translocase of outer mitochondrial membrane complex 1229 2002-02-11 2016-02-26 2019-04-30 10452 ENSG00000130204 OTTHUMG00000180842 uc002ozx.4 AF043250 NM_001128916 CCDS12646 O96008 "10980201|15644312" MGI:1858259 RGD:1303022 608061 HGNC:18001 "ENST00000426677.7|NM_001128917.2" +HGNC:25756 TOMM40L translocase of outer mitochondrial membrane 40 like protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "FLJ12770|TOMM40B" "translocase of outer mitochondrial membrane 40 homolog-like (yeast)|translocase of outer mitochondrial membrane 40 homolog (yeast)-like" MicroRNA protein coding host genes 1691 2005-07-29 2016-02-26 2016-02-26 84134 ENSG00000158882 OTTHUMG00000034345 uc001fzd.5 NM_032174 "CCDS1227|CCDS65700" Q969M1 MGI:3589112 RGD:1562006 HGNC:25756 "ENST00000367988.8|NM_032174.6" +HGNC:54623 TOMM40P1 TOMM40 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 2019-10-17 2019-10-17 642661 ENSG00000277156 NG_022836 +HGNC:54624 TOMM40P2 TOMM40 pseudogene 2 pseudogene pseudogene Approved 22q11.1 22q11.1 2019-10-17 2019-10-17 729057 ENSG00000215270 NG_022885 +HGNC:54632 TOMM40P3 TOMM40 pseudogene 3 pseudogene pseudogene Approved 5p13.3 05p13.3 2019-10-17 2019-10-17 646639 ENSG00000249360 NG_021878 +HGNC:54633 TOMM40P4 TOMM40 pseudogene 4 pseudogene pseudogene Approved 2q21.2 02q21.2 2019-10-17 2019-10-17 100422473 ENSG00000213222 NG_023610 +HGNC:11985 TOMM70 translocase of outer mitochondrial membrane 70 protein-coding gene gene with protein product Approved 3q12.2 03q12.2 "KIAA0719|Tom70" Mitochondrial import receptor subunit TOM70 TOMM70A "translocase of outer mitochondrial membrane 70 (yeast) homolog A|translocase of outer mitochondrial membrane 70 homolog A (yeast)|translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)" "Tetratricopeptide repeat domain containing|Translocase of outer mitochondrial membrane complex" "769|1229" 2000-01-20 2016-02-26 2016-02-26 2021-09-09 9868 ENSG00000154174 OTTHUMG00000159065 uc003dtw.4 AB018262 NM_014820 CCDS33807 O94826 10582581 MGI:106295 RGD:1303049 606081 HGNC:11985 "ENST00000284320.6|NM_014820.5" HGNC:11985 +HGNC:55527 TOMT transmembrane O-methyltransferase protein-coding gene gene with protein product Approved 11q13.4 11q13.4 COMT2 2021-03-19 2021-03-19 120356740 ENSG00000284844 NM_001393500 Q8WZ04 MGI:3769724 +HGNC:7801 TONSL tonsoku like, DNA repair protein protein-coding gene gene with protein product Approved 8q24.3 08q24.3 IKBR NFKBIL2 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2 "Ankyrin repeat domain containing|MicroRNA protein coding host genes" "403|1691" 1995-09-12 2010-11-30 2017-02-21 2017-02-21 4796 ENSG00000160949 OTTHUMG00000153122 uc011llg.3 NM_013432 CCDS34968 Q96HA7 "7738005|11246458" MGI:1919999 RGD:1307483 604546 HGNC:7801 "ENST00000409379.8|NM_013432.5" HGNC:7801 +HGNC:51556 TONSL-AS1 TONSL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 Antisense RNAs 1987 2015-03-05 2019-07-12 100287098 ENSG00000232600 OTTHUMG00000153175 NR_109770 31158361 TONSL-AS1 HGNC:51556 +HGNC:11986 TOP1 DNA topoisomerase I protein-coding gene gene with protein product Approved 20q12 20q12 Scl-70 antigen topoisomerase (DNA) I Topoisomerases 1050 1989-02-23 2017-08-04 2018-10-24 7150 ENSG00000198900 OTTHUMG00000033057 uc002xjl.4 NM_003286 CCDS13312 P11387 MGI:98788 RGD:621246 TOP1 126420 objectId:2636 5.99.1.2 HGNC:11986 "ENST00000361337.3|NM_003286.4" +HGNC:29787 TOP1MT DNA topoisomerase I mitochondrial protein-coding gene gene with protein product Approved 8q24.3 08q24.3 topoisomerase (DNA) I, mitochondrial Topoisomerases 1050 2004-07-19 2017-08-04 2017-08-04 116447 ENSG00000184428 OTTHUMG00000164979 uc003yxz.6 AF349018 NM_052963 "CCDS59115|CCDS6400" Q969P6 11526219 MGI:1920210 RGD:1303177 606387 objectId:2759 HGNC:29787 "ENST00000329245.9|NM_052963.3" +HGNC:11987 TOP1P1 DNA topoisomerase I pseudogene 1 pseudogene pseudogene Approved 1q24.3 01q24.3 1990-09-10 2017-08-04 2020-04-03 7151 ENSG00000285665 OTTHUMG00000035501 M55632 NR_002719 PGOHUM00000296655 HGNC:11987 +HGNC:11988 TOP1P2 DNA topoisomerase I pseudogene 2 pseudogene pseudogene Approved 22q11.23 22q11.23 topoisomerase (DNA) I pseudogene 2 1990-09-10 2017-08-04 2017-08-04 7152 M55630 NR_001283 HGNC:11988 +HGNC:11989 TOP2A DNA topoisomerase II alpha protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "TOP2alpha|TOPIIA" TOP2 topoisomerase (DNA) II alpha 170kDa Topoisomerases 1050 1989-03-23 2017-08-04 2021-03-30 7153 ENSG00000131747 OTTHUMG00000155008 uc002huq.4 NM_001067 CCDS45672 P11388 MGI:98790 RGD:62048 126430 353516 objectId:2637 5.99.1.2 HGNC:11989 "ENST00000423485.6|NM_001067.4" +HGNC:11990 TOP2B DNA topoisomerase II beta protein-coding gene gene with protein product Approved 3p24.2 03p24.2 "top2beta|TOPIIB" topoisomerase (DNA) II beta 180kDa Topoisomerases 1050 1992-03-20 2017-08-04 2021-05-26 7155 ENSG00000077097 OTTHUMG00000155596 uc003cdj.4 X68060 NM_001068 "CCDS82746|CCDS46776" Q02880 "1309226|1333583" MGI:98791 RGD:1586156 126431 5.99.1.3 HGNC:11990 "ENST00000264331.9|NM_001330700.2" +HGNC:11992 TOP3A DNA topoisomerase III alpha protein-coding gene gene with protein product Approved 17p11.2 17p11.2 ZGRF7 zinc finger, GRF-type containing 7 TOP3 topoisomerase (DNA) III alpha "Zinc fingers GRF-type|Topoisomerases" "135|1050" 1999-03-18 2017-08-04 2021-05-26 7156 ENSG00000177302 OTTHUMG00000059391 uc002gsx.1 U43431 NM_001320759 CCDS11194 Q13472 9450867 MGI:1197527 RGD:1309320 601243 5.99.1.2 HGNC:11992 "ENST00000321105.10|NM_004618.5" HGNC:11992 +HGNC:11993 TOP3B DNA topoisomerase III beta protein-coding gene gene with protein product Approved 22q11.22 22q11.22 Topoisomerases 1050 1999-03-18 2017-08-04 2017-08-04 8940 ENSG00000100038 OTTHUMG00000167438 uc002zvt.6 AF017146 NM_003935 CCDS13797 O95985 "9786842|9074928" MGI:1333803 RGD:1309468 603582 HGNC:11993 "ENST00000357179.10|NM_001282112.2" +HGNC:11994 TOP3BP1 DNA topoisomerase III beta pseudogene 1 pseudogene pseudogene Approved 22q11.22 22q11.22 TOP3B2 topoisomerase (DNA) III beta, 2 1999-10-29 2012-01-13 2017-08-04 2017-08-04 23751 ENSG00000228050 OTTHUMG00000151044 NG_000002 10591208 PGOHUM00000246269 HGNC:11994 +HGNC:24746 TOPAZ1 testis and ovary specific TOPAZ 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ36157 C3orf77 "chromosome 3 open reading frame 77|testis and ovary specific PAZ domain containing 1" 2009-06-12 2012-10-08 2021-06-01 2021-06-01 375337 ENSG00000173769 OTTHUMG00000156172 uc003cna.4 AK093476 NM_001145030 CCDS46809 Q8N9V7 22069478 MGI:3779933 RGD:1563398 614412 HGNC:24746 "ENST00000309765.4|NM_001145030.2" +HGNC:17008 TOPBP1 DNA topoisomerase II binding protein 1 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 "KIAA0259|TOP2BP1|Dpb11" topoisomerase (DNA) II binding protein 1 BRCA1 B complex 1335 2004-06-21 2017-08-04 2018-09-25 11073 ENSG00000163781 OTTHUMG00000159773 uc003eps.4 AB019397 NM_007027 "CCDS46919|CCDS87136" Q92547 "9461304|9039502" MGI:1920018 RGD:1562949 607760 HGNC:17008 "ENST00000260810.10|NM_007027.4" +HGNC:21653 TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase protein-coding gene gene with protein product Approved 9p21.1 09p21.1 "TP53BPL|LUN" RP31 "retinitis pigmentosa 31 (autosomal dominant)|TOP1 binding arginine/serine rich protein" Ring finger proteins 58 2003-07-07 2020-03-09 2021-05-26 10210 ENSG00000197579 OTTHUMG00000019743 uc003zrb.4 AF098300 NM_005802 "CCDS6527|CCDS56566" Q9NS56 "10352183|12083797|17924349" MGI:2146189 RGD:1305270 609507 159443 HGNC:21653 "ENST00000360538.7|NM_005802.5" HGNC:21653 +HGNC:50276 TOPORSLP topoisomerase I binding, arginine and serine rich like, pseudogene pseudogene pseudogene Approved 9q31.1 09q31.1 TOPORSLP1 "topoisomerase I binding, arginine/serine-rich like, pseudogene 1|topoisomerase I binding, arginine and serine rich like, pseudogene 1" 2014-03-25 2018-01-12 2018-01-12 2020-08-14 347281 ENSG00000242111 OTTHUMG00000020402 NG_021672 MGI:1915524 PGOHUM00000304426 HGNC:50276 +HGNC:3098 TOR1A torsin family 1 member A protein-coding gene gene with protein product Approved 9q34.11 09q34.11 DQ2 "torsin A|torsin-1A|torsinA" DYT1 "dystonia 1, torsion (autosomal dominant; torsin A)|torsin family 1, member A (torsin A)" Torsins 1831 1987-09-11 2004-11-26 2016-01-25 2022-01-17 1861 ENSG00000136827 OTTHUMG00000020794 uc004byl.4 AF007871 NM_000113 CCDS6930 O14656 "10644435|20169475" MGI:1353568 RGD:628863 LRG_1029|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1029.xml 605204 120201 HGNC:3098 "ENST00000351698.5|NM_000113.3" HGNC:3098 +HGNC:29456 TOR1AIP1 torsin 1A interacting protein 1 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "LAP1B|FLJ13142|LAP1|LAP1C" lamina associated polypeptide 1B torsin A interacting protein 1 2005-06-07 2016-01-26 2019-09-18 26092 ENSG00000143337 OTTHUMG00000035257 uc001gnq.5 NM_015602 "CCDS1335|CCDS65737" Q5JTV8 "12061773|15767459" MGI:3582693 RGD:628851 614512 432014 HGNC:29456 "ENST00000606911.7|NM_015602.4" HGNC:29456 +HGNC:24055 TOR1AIP2 torsin 1A interacting protein 2 protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "LULL1|NET9|IFRG15" torsin A interacting protein 2 2005-06-07 2016-01-26 2016-01-26 163590 ENSG00000169905 OTTHUMG00000035265 uc001gnn.4 NM_145034 "CCDS53439|CCDS1334" "Q8NFQ8|Q9H496" 15767459 MGI:3582695 RGD:735059 614513 HGNC:24055 "ENST00000609928.6|NM_001199260.2" +HGNC:11995 TOR1B torsin family 1 member B protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "DQ1|MGC4386" torsin B torsin family 1, member B (torsin B) Torsins 1831 2000-02-17 2016-01-25 2016-10-05 27348 ENSG00000136816 OTTHUMG00000020795 uc004byk.1 AF007872 NM_014506 CCDS6929 O14657 "9288096|10644435" MGI:1353605 RGD:1308431 608050 HGNC:11995 "ENST00000259339.7|NM_014506.3" +HGNC:54599 TOR1BP1 TOR1B pseudogene 1 pseudogene pseudogene Approved 2p13.1 02p13.1 2019-10-16 2019-10-16 100420888 ENSG00000233872 NG_023570 +HGNC:11996 TOR2A torsin family 2 member A protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "FLJ14771|TORP1" torsin family 2, member A Torsins 1831 2000-02-17 2016-01-25 2016-01-25 27433 ENSG00000160404 OTTHUMG00000020706 uc004brs.5 AA873275 NM_130459 "CCDS48025|CCDS6876|CCDS48024|CCDS43879" "Q5JU69|Q8N2E6" 10644435 MGI:1353596 RGD:1359111 608052 HGNC:11996 "ENST00000373284.10|NM_001085347.3" +HGNC:11997 TOR3A torsin family 3 member A protein-coding gene gene with protein product Approved 1q25.2 01q25.2 "FLJ22345|ADIR2" ADIR "ATP-dependant interferon responsive|torsin family 3, member A" "Minor histocompatibility antigens|Torsins" "870|1831" 2000-02-17 2016-01-25 2016-01-25 64222 ENSG00000186283 OTTHUMG00000035077 uc001gmd.4 BC001085 NM_022371 CCDS1329 Q9H497 10644435 MGI:1353652 RGD:1310101 607555 HGNC:11997 "ENST00000367627.8|NM_022371.4" +HGNC:25981 TOR4A torsin family 4 member A protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FLJ20245 C9orf167 "chromosome 9 open reading frame 167|torsin family 4, member A" Torsins 1831 2007-02-08 2012-04-03 2016-01-25 2016-01-25 54863 ENSG00000198113 OTTHUMG00000131779 uc004cmn.4 AK023361 NM_017723 CCDS7041 Q9NXH8 MGI:2442720 RGD:1308019 HGNC:25981 "ENST00000357503.3|NM_017723.3" +HGNC:18988 TOX thymocyte selection associated high mobility group box protein-coding gene gene with protein product Approved 8q12.1 08q12.1 "KIAA0808|TOX1" 2007-03-20 2015-11-16 2016-10-05 9760 ENSG00000198846 OTTHUMG00000164331 uc003xtw.1 NM_014729 CCDS34897 O94900 "9872452|11850626" MGI:2181659 RGD:1310455 The Globin Gene Server|http://lovd.bx.psu.edu/home.php?select_db=TOX 606863 HGNC:18988 "ENST00000361421.2|NM_014729.3" +HGNC:55935 TOX-DT TOX divergent transcript non-coding RNA RNA, long non-coding Approved 8q12.1 08q12.1 Divergent transcripts 1990 2021-11-08 2021-11-08 100505501 ENSG00000167912 NR_149030 +HGNC:16095 TOX2 TOX high mobility group box family member 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ1108D11.2|GCX-1" granulosa cell HMG box 1 C20orf100 chromosome 20 open reading frame 100 2001-07-17 2007-03-20 2007-03-20 2016-11-16 84969 ENSG00000124191 OTTHUMG00000032517 uc010ggo.4 BC007636 NM_001098796 "CCDS46603|CCDS42875|CCDS13324" Q96NM4 14764631 MGI:3611233 RGD:735184 611163 HGNC:16095 "ENST00000341197.9|NM_001098797.2" +HGNC:11972 TOX3 TOX high mobility group box family member 3 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 CAGF9 TNRC9 trinucleotide repeat containing 9 2000-01-27 2007-03-20 2007-03-20 2020-04-01 27324 ENSG00000103460 OTTHUMG00000173222 uc002egw.3 U80736 NM_001080430 "CCDS54009|CCDS54008" O15405 9225980 MGI:3039593 RGD:1311529 611416 HGNC:11972 "ENST00000219746.14|NM_001080430.4" +HGNC:20161 TOX4 TOX high mobility group box family member 4 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 LCP1 "C14orf92|KIAA0737" "chromosome 14 open reading frame 92|KIAA0737" 2002-12-19 2007-03-20 2007-03-20 2014-11-19 9878 ENSG00000092203 OTTHUMG00000150278 uc058zcl.1 AB018280 NM_014828 CCDS32043 O94842 MGI:1915389 RGD:708449 614032 HGNC:20161 "ENST00000448790.7|NM_014828.4" +HGNC:44009 TOX4P1 TOX high mobility group box family member 4 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 2012-05-28 2012-05-28 285412 ENSG00000248697 OTTHUMG00000161064 NG_022072 PGOHUM00000246033 HGNC:44009 +HGNC:11998 TP53 tumor protein p53 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "p53|LFS1" Li-Fraumeni syndrome 1986-01-01 2008-01-16 2021-05-26 7157 ENSG00000141510 OTTHUMG00000162125 uc060aur.1 AF307851 NM_000546 "CCDS73971|CCDS73968|CCDS73967|CCDS73963|CCDS11118|CCDS73965|CCDS73964|CCDS73970|CCDS45606|CCDS45605|CCDS73966|CCDS73969" P04637 "6396087|3456488|2047879" MGI:98834 RGD:3889 "IARC TP53 Mutation Database|http://www-p53.iarc.fr/|p53 UMD TP53 mutation database|http://p53.fr/|Database of Germline p53 Mutations|http://www.lf2.cuni.cz/projects/germline_mut_p53.htm|MUTP53LOAD, Mutant p53 Loss Of Activity Database|http://www.umd.be:2072/|LRG_321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_321.xml" TP53 191170 120204 HGNC:11998 "ENST00000269305.9|NM_000546.6" HGNC:11998 +HGNC:29984 TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 p53AIP1 2009-03-09 2009-03-09 2016-04-25 63970 ENSG00000120471 OTTHUMG00000165797 uc001qey.5 AB045831 NM_022112 "CCDS8480|CCDS55797|CCDS58195|CCDS55798" Q9HCN2 "11030628|12019168" 605426 HGNC:29984 "ENST00000531399.6|NM_022112.3" +HGNC:11999 TP53BP1 tumor protein p53 binding protein 1 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "53BP1|p202|TDRD30" tumor protein p53-binding protein, 1 Tudor domain containing 780 2000-06-24 2007-08-02 2016-10-05 7158 ENSG00000067369 OTTHUMG00000059757 uc001zrs.4 U09477 NM_001141979 "CCDS10096|CCDS45250|CCDS45251" Q12888 "8016121|9748285" MGI:1351320 RGD:1308039 605230 HGNC:11999 "ENST00000382044.9|NM_001141980.3" +HGNC:12000 TP53BP2 tumor protein p53 binding protein 2 protein-coding gene gene with protein product Approved 1q41 01q41 "PPP1R13A|ASPP2|53BP2" tumor protein p53-binding protein, 2 "Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits" "403|694" 1997-06-24 2014-06-24 2014-11-19 7159 ENSG00000143514 OTTHUMG00000037379 uc010pvb.3 U09582 "NM_001031685|NM_005426" "CCDS1538|CCDS44319" Q13625 "8668206|8016121" MGI:2138319 RGD:1305461 602143 HGNC:12000 "ENST00000343537.12|NM_001031685.3" HGNC:12000 +HGNC:16328 TP53BP2P1 tumor protein p53 binding protein 2 pseudogene 1 pseudogene pseudogene Approved 8p21.3 08p21.3 PPP1R13AP protein phosphatase 1, regulatory (inhibitor) subunit 13A pseudogene 2001-08-08 2011-10-04 2015-03-17 2021-07-13 94299 11948623 +HGNC:43652 TP53COR1 tumor protein p53 pathway corepressor 1 non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 "linc-p21|lincRNA-p21|Trp53cor1" tumor protein p53 pathway corepressor 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2015-03-25 2018-05-16 2018-05-16 102800311 CD515754 "20673990|22841487|24381249" MGI:3801771 616343 lincRNA-p21 +HGNC:19373 TP53I3 tumor protein p53 inducible protein 3 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 PIG3 2003-03-20 2015-09-08 9540 ENSG00000115129 OTTHUMG00000090817 uc002rey.2 AF010309 NM_004881 "CCDS56112|CCDS1708" Q53FA7 "11919562|10840161|19349281" RGD:1304982 605171 HGNC:19373 "ENST00000238721.9|NM_004881.5" +HGNC:16842 TP53I11 tumor protein p53 inducible protein 11 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 PIG11 2003-03-20 2020-04-01 9537 ENSG00000175274 OTTHUMG00000165714 uc031pzy.1 AF010315 NM_006034 CCDS7911 O14683 9305847 MGI:2670995 RGD:1308395 617867 HGNC:16842 "ENST00000525680.6|NM_006034.5" +HGNC:25102 TP53I13 tumor protein p53 inducible protein 13 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 DSCP1 2006-01-16 2020-04-01 90313 ENSG00000167543 OTTHUMG00000179723 uc002hee.4 AK075341 NM_138349 CCDS42289 Q8NBR0 14767535 MGI:1915125 RGD:1559818 HGNC:25102 "ENST00000301057.8|NM_138349.4" +HGNC:18022 TP53INP1 tumor protein p53 inducible nuclear protein 1 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "DKFZp434M1317|FLJ22139|P53DINP1|SIP|TP53INP1A|TP53INP1B|Teap" 2002-01-21 2016-10-25 94241 ENSG00000164938 OTTHUMG00000164697 uc003yhg.4 AF409115 NM_001135733 "CCDS47899|CCDS6265" Q96A56 "11511362|12438758" MGI:1926609 RGD:631423 606185 HGNC:18022 "ENST00000342697.5|NM_033285.4" +HGNC:16104 TP53INP2 tumor protein p53 inducible nuclear protein 2 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "FLJ21759|FLJ23500|DKFZp434B2411|DKFZp434O0827|dJ1181N3.1|PINH|DOR" diabetes and obesity regulated C20orf110 chromosome 20 open reading frame 110 2001-07-17 2004-06-18 2004-06-18 2019-03-20 58476 ENSG00000078804 OTTHUMG00000032310 uc002xau.2 AL109824 NM_021202 CCDS13240 Q8IXH6 "15628030|27172002" MGI:1915978 RGD:735085 617549 HGNC:16104 "ENST00000374810.8|NM_021202.3" +HGNC:16197 TP53RK TP53 regulating kinase protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ101A2.2|prpk|Nori-2p|BUD32|TPRKB" p53-related protein kinase C20orf64 chromosome 20 open reading frame 64 KEOPS complex 1313 2001-07-17 2004-05-12 2004-05-10 2020-06-01 112858 ENSG00000172315 OTTHUMG00000085887 uc002xsk.4 NM_033550 CCDS13401 Q96S44 "11546806|12914926" MGI:1918294 RGD:1304911 608679 objectId:2248 HGNC:16197 "ENST00000372114.4|NM_033550.4" HGNC:16197 +HGNC:55243 TP53RK-DT TP53RK divergent transcript non-coding RNA RNA, long non-coding Approved 20q13.12 20q13.12 Divergent transcripts 1990 2020-09-17 2020-09-17 118597844 ENSG00000271784 +HGNC:17026 TP53TG1 TP53 target 1 non-coding RNA RNA, long non-coding Approved 7q21.12 07q21.12 "H_RG012D21.9|LINC00096" "TP53 target gene 1|long intergenic non-protein coding RNA 96" TP53AP1 "TP53 activated protein 1|TP53 target 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2003-08-12 2008-09-03 2018-05-16 2018-06-20 11257 ENSG00000182165 OTTHUMG00000130822 uc003uip.5 AB007455 NR_015381 "9713990|29588850" 616403 TP53TG1 HGNC:17026 +HGNC:30759 TP53TG3 TP53 target 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "P53TG3|TP53TG3A" p53 target gene 3 2008-09-18 2015-06-09 24150 ENSG00000183632 OTTHUMG00000176507 uc002edd.5 AB023509 NM_016212 CCDS45475 Q9ULZ0 10534768 617482 HGNC:30759 +HGNC:37202 TP53TG3B TP53 target 3B protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2009-09-22 2015-06-09 729355 ENSG00000261509 OTTHUMG00000176461 uc010caz.4 BC096733 NM_001099687 CCDS45477 Q9ULZ0 HGNC:37202 +HGNC:42962 TP53TG3C TP53 target 3C protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2012-01-12 2016-11-10 653550 ENSG00000205457 OTTHUMG00000176458 uc032dyd.2 NM_001205259 CCDS58458 Q9ULZ0 HGNC:42962 +HGNC:44657 TP53TG3D TP53 target 3D protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2012-12-11 2015-06-09 729264 ENSG00000205456 OTTHUMG00000132469 uc021tgy.2 NM_001243722 CCDS58456 Q9ULZ0 HGNC:44657 +HGNC:51816 TP53TG3E TP53 target 3 family member E protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2015-06-12 2016-01-15 102724101 ENSG00000275034 OTTHUMG00000189337 NM_001330061 CCDS81974 Q9ULZ0 HGNC:51816 +HGNC:51817 TP53TG3F TP53 target 3 family member F protein-coding gene gene with protein product Approved 16p11.2 16p11.2 2015-06-12 2016-01-15 102724127 ENSG00000278848 OTTHUMG00000189349 NM_001330066 CCDS81976 Q9ULZ0 HGNC:51817 +HGNC:51818 TP53TG3GP TP53 target 3 family member G, pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 2015-06-12 2016-11-09 106660619 ENSG00000261274 OTTHUMG00000176240 NG_044941 PGOHUM00000293569 HGNC:51818 +HGNC:51819 TP53TG3HP TP53 target 3 family member H, pseudogene pseudogene pseudogene Approved 16p11.1 16p11.1 2015-06-12 2016-11-15 100130700 ENSG00000269622 OTTHUMG00000176011 NR_034018 PGOHUM00000293585 HGNC:51819 +HGNC:15856 TP53TG5 TP53 target 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "CLG01|dJ453C12.5" C20orf10 chromosome 20 open reading frame 10 2001-06-21 2008-09-18 2008-09-18 2015-08-26 27296 ENSG00000124251 OTTHUMG00000032582 uc002xny.4 AB017802 NM_014477 CCDS13352 Q9Y2B4 MGI:1920853 RGD:1561934 617316 HGNC:15856 "ENST00000372726.5|NM_014477.3" HGNC:15856 +HGNC:15979 TP63 tumor protein p63 protein-coding gene gene with protein product Approved 3q28 03q28 "p51|SHFM4|EEC3|p63|p73L|OFC8|KET|p73H|NBP|p53CP|p40" "TP73L|TP53L|TP53CP" "tumor protein p73-like|tumor protein p53-like|tumor protein p53-competing protein" MicroRNA protein coding host genes 1691 2002-04-18 2022-02-09 8626 ENSG00000073282 OTTHUMG00000156313 uc003fsc.3 AB010153 NM_003722 "CCDS3293|CCDS87181|CCDS87180|CCDS46976|CCDS87179|CCDS46977|CCDS82887|CCDS46978|CCDS46979|CCDS46980" Q9H3D4 "9774969|9662378|11181441|11181451" MGI:1330810 RGD:620863 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TP63|LRG_428|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_428.xml" TP63 603273 120207 HGNC:15979 "ENST00000264731.8|NM_003722.5" HGNC:15979 +HGNC:12003 TP73 tumor protein p73 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 P73 1997-11-12 2018-08-08 7161 ENSG00000078900 OTTHUMG00000000610 uc001akp.4 AB055065 NM_005427 "CCDS59965|CCDS49|CCDS55566|CCDS55567|CCDS55568|CCDS55569|CCDS44051|CCDS44050|CCDS44049" O15350 "9296498|9288759" MGI:1336991 RGD:1307083 601990 440324 HGNC:12003 "ENST00000378295.9|NM_005427.4" +HGNC:29052 TP73-AS1 TP73 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 PDAM p53-dependent apoptosis modulator KIAA0495 KIAA0495 Antisense RNAs 1987 2009-06-19 2014-01-20 2014-01-20 2020-01-09 57212 ENSG00000227372 OTTHUMG00000003414 uc009vlm.4 NR_033708 "20477830|23726844|28403886" TP73-AS1 HGNC:29052 +HGNC:40591 TP73-AS2 TP73 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 RP5-1092A11.2 Antisense RNAs 1987 2020-02-13 2020-02-13 117134600 ENSG00000235131 32043367 +HGNC:40590 TP73-AS3 TP73 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 1p36.32 01p36.32 Antisense RNAs 1987 2020-04-01 2020-04-01 105378610 ENSG00000227589 OTTHUMG00000041605 XR_946888 +HGNC:12004 TPBG trophoblast glycoprotein protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "5T4-AG|5T4" 1990-10-16 2016-10-05 7162 ENSG00000146242 OTTHUMG00000015103 uc063ptt.1 AJ012159 NM_001166392 CCDS4995 Q13641 8132670 MGI:1341264 RGD:621453 190920 objectId:3009 HGNC:12004 "ENST00000369750.4|NM_001376922.1" +HGNC:44159 TPBGL trophoblast glycoprotein like protein-coding gene gene with protein product Approved 11q13.4 11q13.4 2012-07-02 2017-02-21 2017-02-21 100507050 ENSG00000261594 OTTHUMG00000165441 uc021qnk.2 BC007804 NM_001195528 CCDS60895 P0DKB5 MGI:3646425 RGD:1596774 HGNC:44159 "ENST00000562197.3|NM_001195528.2" +HGNC:55506 TPBGL-AS1 TPBGL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.4 11q13.4 Antisense RNAs 1987 2021-03-17 2021-03-17 120883615 ENSG00000255136 +HGNC:18182 TPCN1 two pore segment channel 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 "KIAA1169|FLJ20612|TPC1" "Two pore segment channels|MicroRNA protein coding host genes" "247|1691" 2003-04-10 2021-02-10 53373 ENSG00000186815 OTTHUMG00000169625 uc001tuw.4 AB032995 NM_017901 "CCDS76605|CCDS44985|CCDS31908" Q9ULQ1 "10753632|16382101" MGI:2182472 RGD:708494 609666 objectId:392 HGNC:18182 "ENST00000335509.11|NM_017901.6" +HGNC:20820 TPCN2 two pore segment channel 2 protein-coding gene gene with protein product Approved 11q13.3 11q13.3 TPC2 "Two pore segment channels|MicroRNA protein coding host genes" "247|1691" 2003-04-10 2021-05-26 219931 ENSG00000162341 OTTHUMG00000167898 uc001oos.3 AK023366 NM_139075 CCDS8189 Q8NHX9 16382101 MGI:2385297 RGD:1311779 612163 objectId:393 HGNC:20820 "ENST00000294309.8|NM_139075.4" +HGNC:12005 TPD52 tumor protein D52 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "D52|hD52|N8L" 1996-04-30 2015-08-26 7163 ENSG00000076554 OTTHUMG00000164565 uc003ybr.3 U18914 NM_005079 "CCDS75759|CCDS55249|CCDS75758|CCDS75757|CCDS47879|CCDS34912" P55327 7796418 MGI:107749 RGD:1306767 604068 HGNC:12005 "ENST00000518937.6|NM_001025253.3" +HGNC:12006 TPD52L1 TPD52 like 1 protein-coding gene gene with protein product Approved 6q22-q23 06q22-q23 "D53|hD53|TPD53" tumor protein D52 like 1 1996-04-30 2018-08-09 2020-03-25 7164 ENSG00000111907 OTTHUMG00000015505 uc003pzu.2 U44427 NM_001003395 "CCDS5130|CCDS34527|CCDS34528|CCDS43502|CCDS75513|CCDS75514|CCDS83122" Q16890 "8812487|16112108" MGI:1298386 RGD:1594796 604069 HGNC:12006 "ENST00000534000.6|NM_003287.4" +HGNC:12007 TPD52L2 TPD52 like 2 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "D54|hD54|TPD54" "tumor protein D52-like 2|tumor protein D52 like 2" 1998-04-02 2018-08-09 2020-03-25 7165 ENSG00000101150 OTTHUMG00000033009 uc002ygz.4 AF004430 NM_001243891 "CCDS13540|CCDS74753|CCDS13543|CCDS13542|CCDS13541|CCDS58785|CCDS13545|CCDS13544|CCDS74752" O43399 9484778 MGI:1913564 RGD:735167 603747 HGNC:12007 "ENST00000346249.9|NM_003288.4" +HGNC:23382 TPD52L3 TPD52 like 3 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "NYD-SP25|D55|TPD55" "tumor protein D52-like 3|tumor protein D52 like 3" 2005-11-22 2018-08-09 2020-03-25 89882 ENSG00000170777 OTTHUMG00000019518 uc003zjw.4 AY032877 NM_033516 "CCDS34986|CCDS34984|CCDS34985" Q96J77 MGI:1913995 RGD:1309391 617567 HGNC:23382 "ENST00000314556.4|NM_001001874.3" +HGNC:25058 TPGS1 tubulin polyglutamylase complex subunit 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "GTRGEO22|PGs1" polyglutamylase subunit 1 C19orf20 chromosome 19 open reading frame 20 Tubulin polyglutamylase complex subunits 2117 2004-03-16 2011-11-23 2011-11-23 2022-01-06 91978 ENSG00000141933 OTTHUMG00000180557 uc002lou.5 BC009520 NM_033513 CCDS42454 Q6ZTW0 "11441184|12972506" MGI:106618 RGD:1588613 HGNC:25058 "ENST00000359315.6|NM_033513.3" +HGNC:24561 TPGS2 tubulin polyglutamylase complex subunit 2 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "DKFZP586M1523|HsT3006|PGs2" polyglutamylase subunit 2 C18orf10 chromosome 18 open reading frame 10 Tubulin polyglutamylase complex subunits 2117 2004-01-08 2011-11-25 2011-11-25 2022-01-10 25941 ENSG00000134779 OTTHUMG00000178075 uc002kzw.3 BC015178 NM_015476 "CCDS32817|CCDS74215|CCDS62421|CCDS62424|CCDS62423|CCDS74214|CCDS62422|CCDS82248" Q68CL5 15890843 MGI:1913898 RGD:1310571 HGNC:24561 "ENST00000334295.9|NM_015476.4" +HGNC:12008 TPH1 tryptophan hydroxylase 1 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 tryptophan 5-monooxygenase "TPRH|TPH" tryptophan hydroxylase (tryptophan 5-monooxygenase) 2001-06-22 2003-04-04 2008-07-31 2016-10-05 7166 ENSG00000129167 OTTHUMG00000166421 uc001mnp.3 X52836 NM_004179 CCDS7829 P17752 1463016 MGI:98796 RGD:3895 191060 471246 objectId:1241 1.14.16.4 HGNC:12008 "ENST00000682019.1|NM_004179.3" +HGNC:20692 TPH2 tryptophan hydroxylase 2 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "NTPH|FLJ37295" tryptophan 5-monooxygenase 2003-04-03 2016-10-05 121278 ENSG00000139287 OTTHUMG00000169677 uc009zrw.1 AY098914 NM_173353 CCDS31859 Q8IWU9 12511643 MGI:2651811 RGD:631332 607478 471248 objectId:1242 1.14.16.4 HGNC:20692 "ENST00000333850.4|NM_173353.4" +HGNC:12009 TPI1 triosephosphate isomerase 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 2001-06-22 2021-05-26 7167 ENSG00000111669 OTTHUMG00000133767 uc058kmn.1 NM_000365 "CCDS58206|CCDS53740|CCDS8566" P60174 MGI:98797 RGD:3896 LRG_1126|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1126.xml 190450 120218 5.3.1.1 HGNC:12009 "ENST00000396705.10|NM_000365.6" HGNC:12009 +HGNC:35449 TPI1P1 triosephosphate isomerase 1 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 2010-04-08 2014-11-19 729708 ENSG00000226415 OTTHUMG00000009616 NG_008262 PGOHUM00000244760 HGNC:35449 +HGNC:38069 TPI1P2 triosephosphate isomerase 1 pseudogene 2 pseudogene pseudogene Approved 7q32.1 07q32.1 2010-04-08 2014-11-19 286016 ENSG00000230359 OTTHUMG00000158411 NR_002187.2 PGOHUM00000233566 HGNC:38069 +HGNC:38070 TPI1P3 triosephosphate isomerase 1 pseudogene 3 pseudogene pseudogene Approved 6q22.1 06q22.1 2010-04-08 2014-11-19 728402 ENSG00000186743 OTTHUMG00000015423 NR_027338.1 PGOHUM00000243749 HGNC:38070 +HGNC:38071 TPI1P4 triosephosphate isomerase 1 pseudogene 4 pseudogene pseudogene Approved 4p11 04p11 2010-04-08 2015-01-28 728629 ENSG00000225455 OTTHUMG00000160137 NG_011550 PGOHUM00000257074 HGNC:38071 +HGNC:17358 TPK1 thiamin pyrophosphokinase 1 protein-coding gene gene with protein product Approved 7q35 07q35 "HTPK1|PP20" "placental protein 20|thiamine pyrophosphokinase 1|thiamine kinase|thiamine diphosphokinase" 2001-12-13 2021-05-26 27010 ENSG00000196511 OTTHUMG00000152774 uc003weq.3 AB028138 NM_022445 "CCDS5888|CCDS55178" Q9H3S4 11342111 MGI:1352500 RGD:1589408 606370 299186 HGNC:17358 "ENST00000360057.7|NM_022445.4" HGNC:17358 +HGNC:12010 TPM1 tropomyosin 1 protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "C15orf13|CMH3" "chromosome 15 open reading frame 13|cardiomyopathy, hypertrophic 3|tropomyosin 1 (alpha)" Tropomyosins 777 1991-07-18 2017-05-24 2021-05-26 7168 ENSG00000140416 OTTHUMG00000132803 uc002alh.4 AB209041 NM_001018004 "CCDS86459|CCDS32264|CCDS32263|CCDS32262|CCDS10181|CCDS81894|CCDS81892|CCDS81891|CCDS58368|CCDS58369|CCDS45273" P09493 "10343096|8205619|25369766" MGI:98809 RGD:3898 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|LRG_387|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_387.xml" 191010 120220 HGNC:12010 "ENST00000403994.9|NM_001018005.2" HGNC:12010 +HGNC:53635 TPM1-AS TPM1 antisense RNA non-coding RNA RNA, long non-coding Approved 15q22.2 15q22.2 TPM1-AS1 TPM1 antisense RNA 1 Antisense RNAs 1987 2017-08-09 2018-09-12 111064646 ENSG00000259498 OTTHUMG00000172299 NR_147233 28754317 HGNC:53635 +HGNC:12011 TPM2 tropomyosin 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "DA1|NEM4" nemaline myopathy type 4 AMCD1 "arthrogryposis multiplex congenital, distal, type 1|tropomyosin 2 (beta)" Tropomyosins 777 1991-07-18 2017-05-24 2021-05-26 7169 ENSG00000198467 OTTHUMG00000019878 uc064syd.1 NM_003289 "CCDS87651|CCDS6587|CCDS6586|CCDS78394" P07951 "7606936|25369766" MGI:98810 RGD:1559479 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TPM2|LRG_680|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_680.xml" 190990 120223 HGNC:12011 "ENST00000645482.3|NM_003289.4" HGNC:12011 +HGNC:55137 TPM2P1 TPM2 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 2020-07-08 2020-07-08 100130620 ENSG00000235975 NG_026892 +HGNC:12012 TPM3 tropomyosin 3 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 TRK NEM1 Tropomyosins 777 1991-07-18 2021-05-26 7170 ENSG00000143549 OTTHUMG00000035853 uc001fec.3 BC008425 NM_152263 "CCDS41401|CCDS72922|CCDS60274|CCDS60275|CCDS1060|CCDS41400|CCDS41402|CCDS41403" P06753 "1829807|25369766" MGI:1890149 RGD:621546 "Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TPM3|LRG_681|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_681.xml" TPM3 191030 120227 HGNC:12012 "ENST00000651641.1|NM_152263.4" HGNC:12012 +HGNC:16350 TPM3P1 tropomyosin 3 pseudogene 1 pseudogene pseudogene Approved 7q31.2 07q31.2 TPM3L2 "tropomyosin 3-like 2|tropomyosin 3-like 2 pseudogene" 2002-07-22 2010-10-27 2010-10-27 2016-10-05 252956 ENSG00000213050 OTTHUMG00000033986 AF458661 NG_005722 3024106 PGOHUM00000232970 HGNC:16350 +HGNC:16556 TPM3P2 tropomyosin 3 pseudogene 2 pseudogene pseudogene Approved 20q11.22 20q11.22 dJ1125A11.2 TPM5P tropomyosin 5, pseudogene 2001-09-17 2010-10-27 2010-10-27 2010-10-27 170555 ENSG00000214200 OTTHUMG00000032281 AL034549 NG_001060 PGOHUM00000247515 HGNC:16556 +HGNC:39166 TPM3P3 tropomyosin 3 pseudogene 3 pseudogene pseudogene Approved 8q21 08q21 2010-10-27 2010-10-27 106478937 ENSG00000254195 OTTHUMG00000164614 NG_043632 PGOHUM00000249728 HGNC:39166 +HGNC:39167 TPM3P4 tropomyosin 3 pseudogene 4 pseudogene pseudogene Approved 7p15.2 07p15.2 2010-10-27 2010-10-27 402643 ENSG00000214869 OTTHUMG00000033540 NG_005723 HGNC:39167 +HGNC:39168 TPM3P5 tropomyosin 3 pseudogene 5 pseudogene pseudogene Approved 19q13.2 19q13.2 2010-10-27 2021-10-05 644330 ENSG00000268034 NG_005726 PGOHUM00000234701 HGNC:39168 +HGNC:39169 TPM3P6 tropomyosin 3 pseudogene 6 pseudogene pseudogene Approved 19q13.42 19q13.42 2010-10-27 2010-10-27 653758 ENSG00000250731 OTTHUMG00000163081 NG_005727 PGOHUM00000234773 HGNC:39169 +HGNC:39170 TPM3P7 tropomyosin 3 pseudogene 7 pseudogene pseudogene Approved 2p23.3 02p23.3 2010-10-27 2010-10-27 751599 ENSG00000187536 OTTHUMG00000152172 NG_005721 PGOHUM00000239993 HGNC:39170 +HGNC:39171 TPM3P8 tropomyosin 3 pseudogene 8 pseudogene pseudogene Approved 2q37.1 02q37.1 2010-10-27 2010-10-27 646839 ENSG00000183022 OTTHUMG00000153766 NG_005720 PGOHUM00000240545 HGNC:39171 +HGNC:44142 TPM3P9 tropomyosin 3 pseudogene 9 pseudogene pseudogene Approved 19q13.42 19q13.42 2012-06-30 2012-07-04 147804 ENSG00000241015 OTTHUMG00000157312 NR_003148 HGNC:44142 +HGNC:12013 TPM4 tropomyosin 4 protein-coding gene gene with protein product Approved 19p13.12-p13.11 19p13.12-p13.11 Tropomyosins 777 1991-07-18 2021-05-26 7171 ENSG00000167460 OTTHUMG00000182134 uc002ndi.3 NM_003290 "CCDS12338|CCDS46007" P67936 "8641132|25369766" MGI:2449202 RGD:3899 LRG_1339|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1339.xml TPM4 600317 357453 HGNC:12013 "ENST00000643579.2|NM_003290.3" HGNC:12013 +HGNC:45234 TPM4P1 tropomyosin 4 pseudogene 1 pseudogene pseudogene Approved 10q24.31 10q24.31 2013-03-11 2016-10-05 644566 ENSG00000232230 OTTHUMG00000018905 NG_022157 PGOHUM00000238610 HGNC:45234 +HGNC:12014 TPMT thiopurine S-methyltransferase protein-coding gene gene with protein product Approved 6p22.3 06p22.3 7BS small molecule methyltransferases 2063 1993-08-25 2021-05-26 7172 ENSG00000137364 OTTHUMG00000014317 uc003ncm.4 NM_000367 CCDS4543 P51580 8316220 MGI:98812 RGD:1585162 LRG_874|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_874.xml 187680 120231 2.1.1.67 HGNC:12014 "ENST00000309983.5|NM_000367.5" +HGNC:17490 TPMTP1 thiopurine S-methyltransferase pseudogene 1 pseudogene pseudogene Approved 18q21.1 18q21.1 2005-09-14 2012-11-15 400650 ENSG00000267156 OTTHUMG00000180321 U11424 NG_004077 7628307 PGOHUM00000235052 HGNC:17490 +HGNC:44565 TPMTP2 thiopurine S-methyltransferase pseudogene 2 pseudogene pseudogene Approved 3p22.1 03p22.1 2012-11-15 2012-11-15 100420393 ENSG00000234562 OTTHUMG00000156196 NG_025569 PGOHUM00000237600 HGNC:44565 +HGNC:44566 TPMTP3 thiopurine S-methyltransferase pseudogene 3 pseudogene pseudogene Approved Xp11.22 Xp11.22 2012-11-15 2012-11-15 100129277 ENSG00000232562 OTTHUMG00000021544 NG_022601 PGOHUM00000241300 HGNC:44566 +HGNC:44567 TPMTP4 thiopurine S-methyltransferase pseudogene 4 pseudogene pseudogene Approved Xq21.2 Xq21.2 2012-11-15 2012-11-15 100129298 ENSG00000223574 OTTHUMG00000021940 NG_022616 PGOHUM00000241424 HGNC:44567 +HGNC:12015 TPO thyroid peroxidase protein-coding gene gene with protein product Approved 2p25.3 02p25.3 TPX Sushi domain containing 1179 1986-01-01 2016-10-05 7173 ENSG00000115705 OTTHUMG00000090271 uc002qww.4 NM_000547 "CCDS1646|CCDS1643|CCDS1644" P07202 MGI:98813 RGD:3900 606765 120233 objectId:2526 1.11.1.7 HGNC:12015 "ENST00000329066.9|NM_001206744.2" HGNC:12015 +HGNC:2073 TPP1 tripeptidyl peptidase 1 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "LPIC|TPP-1" "TPP I|lysosomal pepstatin-insensitive carboxypeptidase" "CLN2|SCAR7" "ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)|spinocerebellar ataxia, autosomal recessive 7|tripeptidyl peptidase I" 1990-01-30 2004-12-10 2016-04-05 2021-04-13 1200 ENSG00000166340 OTTHUMG00000133404 uc001mel.2 AF017456 NM_000391 CCDS7770 O14773 "9653647|23418007" MGI:1336194 RGD:621296 "Neuronal Ceroid Lipofuscinoses; NCL Mutations|http://www.ucl.ac.uk/ncl/|LRG_830|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_830.xml" 607998 120236 S53.003 HGNC:2073 "ENST00000299427.12|NM_000391.4" HGNC:2073 +HGNC:12016 TPP2 tripeptidyl peptidase 2 protein-coding gene gene with protein product Approved 13q33.1 13q33.1 TPPII tripeptidyl peptidase II 1993-02-23 2016-04-05 2021-04-13 7174 ENSG00000134900 OTTHUMG00000017305 uc001vpi.5 M55169 NM_001330588 "CCDS9502|CCDS81777" P29144 1670990 MGI:102724 RGD:621584 LRG_1341|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1341.xml 190470 448714 S08.A56 objectId:2423 3.4.14.10 HGNC:12016 "ENST00000376052.5|NM_001330588.2" HGNC:12016 +HGNC:24164 TPPP tubulin polymerization promoting protein protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "p25alpha|TPPP1|p25|TPPP/p25" brain specific protein p25 alpha Tubulin polymerization promoting proteins 1240 2007-05-02 2014-11-19 11076 ENSG00000171368 OTTHUMG00000131011 uc003jbh.4 AB017016 NM_007030 CCDS3856 O94811 "10083737|12093283|15590652|17105200" MGI:1920198 RGD:1310121 608773 HGNC:24164 "ENST00000360578.7|NM_007030.3" +HGNC:19293 TPPP2 tubulin polymerization promoting protein family member 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "p25beta|p18|CT152" C14orf8 chromosome 14 open reading frame 8 Tubulin polymerization promoting proteins 1240 2003-10-02 2007-05-02 2016-03-24 2016-03-24 122664 ENSG00000179636 OTTHUMG00000171071 uc001vzh.4 AY072034 NM_173846 CCDS9566 P59282 "15590652|17105200" MGI:2684923 RGD:1566185 616956 HGNC:19293 "ENST00000321760.11|NM_173846.5" +HGNC:24162 TPPP3 tubulin polymerization promoting protein family member 3 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "CGI-38|p25gamma|p20" Tubulin polymerization promoting proteins 1240 2007-05-02 2016-03-24 2016-03-24 51673 ENSG00000159713 OTTHUMG00000137516 uc002etb.5 BC000691 NM_015964 CCDS10835 Q9BW30 "15590652|17105200" MGI:1915221 RGD:1305061 616957 HGNC:24162 "ENST00000393957.7|NM_015964.4" +HGNC:12017 TPR translocated promoter region, nuclear basket protein protein-coding gene gene with protein product Approved 1q31.1 01q31.1 translocated promoter region (to activated MET oncogene) Nucleoporins 1051 1991-11-21 2012-03-13 2018-03-23 7175 ENSG00000047410 OTTHUMG00000035580 uc001grv.4 U69668 NM_003292 CCDS41446 P12270 "1611909|15229283|29234671" MGI:1922066 RGD:1310664 TPR 189940 120239 HGNC:12017 "ENST00000367478.9|NM_003292.3" +HGNC:30413 TPRA1 transmembrane protein adipocyte associated 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "TPRA40|FLJ32197|TMEM227" transmembrane protein 227 GPR175 "G protein-coupled receptor 175|transmembrane protein, adipocyte asscociated 1" "7TM uncharacterized proteins|MicroRNA protein coding host genes" "310|1691" 2005-01-21 2009-07-08 2016-01-27 2021-04-20 131601 ENSG00000163870 OTTHUMG00000159639 uc062nlu.1 AK056759 NM_016372 "CCDS46899|CCDS3042" Q86W33 "10342878|26451044" MGI:1345190 RGD:620858 608336 objectId:655 HGNC:30413 "ENST00000355552.8|NM_001136053.4" +HGNC:24759 TPRG1 tumor protein p63 regulated 1 protein-coding gene gene with protein product Approved 3q28 03q28 "FLJ41238|FLJ43694" FAM79B family with sequence similarity 79, member B 2005-07-21 2008-01-16 2008-01-16 2014-11-19 285386 ENSG00000188001 OTTHUMG00000156321 uc003frv.3 AK125682 NM_198485 CCDS3292 Q6ZUI0 MGI:1918588 RGD:1306226 HGNC:24759 "ENST00000345063.8|NM_198485.4" +HGNC:42391 TPRG1-AS1 TPRG1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q28 03q28 TPRG1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-18 100874043 ENSG00000234076 OTTHUMG00000156324 uc062riq.1 NR_046873 TPRG1-AS1 HGNC:42391 +HGNC:41062 TPRG1-AS2 TPRG1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q28 03q28 TPRG1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874027 ENSG00000230115 OTTHUMG00000156323 uc031scu.1 NR_046722 TPRG1-AS2 HGNC:41062 +HGNC:27007 TPRG1L tumor protein p63 regulated 1 like protein-coding gene gene with protein product Approved 1p36.32 01p36.32 "RP11-46F15.3|FLJ21811|TPRGL|SVAP30|h-Mover" Mossy fiber terminal-associated vertebrate-specific presynaptic protein FAM79A family with sequence similarity 79, member A 2005-07-21 2008-01-16 2016-07-27 2022-01-10 127262 ENSG00000158109 OTTHUMG00000000609 uc001akm.4 BC019034 NM_182752 CCDS47 Q5T0D9 "17869247|18256694|26212709" MGI:1915058 RGD:1590079 611460 HGNC:27007 "ENST00000378344.7|NM_182752.4" +HGNC:52353 TPRG1LP1 tumor protein p63 regulated 1 like pseudogene 1 pseudogene pseudogene Approved 19q13.43 19q13.43 2016-07-28 2016-07-28 100130490 ENSG00000269097 OTTHUMG00000183473 NG_021767 PGOHUM00000295488 HGNC:52353 +HGNC:24259 TPRKB TP53RK binding protein protein-coding gene gene with protein product Approved 2p13.1 02p13.1 "CGI-121|CGI121" KEOPS complex 1313 2006-02-02 2016-07-01 51002 ENSG00000144034 OTTHUMG00000129815 uc002sjn.3 AY157986 NM_016058 "CCDS82471|CCDS1927" Q9Y3C4 "10810093|12659830" MGI:1917036 RGD:1309786 608680 HGNC:24259 "ENST00000272424.11|NM_016058.5" HGNC:24259 +HGNC:44943 TPRKBP1 TP53RK binding protein pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 2012-12-19 2014-02-12 101060176 ENSG00000231911 OTTHUMG00000017873 NG_051485 PGOHUM00000238706 HGNC:44943 +HGNC:44944 TPRKBP2 TP53RK binding protein pseudogene 2 pseudogene pseudogene Approved 16p11.2 16p11.2 2012-12-19 2012-12-19 106480804 ENSG00000260452 OTTHUMG00000176815 NG_045755 PGOHUM00000248771 HGNC:44944 +HGNC:26894 TPRN taperin protein-coding gene gene with protein product Approved 9q34.3 09q34.3 FLJ90254 "C9orf75|DFNB79" "chromosome 9 open reading frame 75|deafness, autosomal recessive 79" 2004-01-06 2010-03-24 2010-03-24 2021-05-26 286262 ENSG00000176058 OTTHUMG00000020984 uc004clu.4 AK074735 NM_173691 CCDS56594 Q4KMQ1 "20170898|20170899" MGI:2139535 RGD:1562935 LRG_1360|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1360.xml 613354 227071 HGNC:26894 "ENST00000409012.6|NM_001128228.3" HGNC:26894 +HGNC:32174 TPRX1 tetrapeptide repeat homeobox 1 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FLJ40321 PRD class homeoboxes and pseudogenes 521 2005-08-08 2016-07-13 2016-07-13 284355 ENSG00000178928 OTTHUMG00000170628 uc061aon.1 NM_198479 CCDS33066 Q8N7U7 611166 8550 HGNC:32174 +HGNC:32176 TPRX1P1 tetrapeptide repeat homeobox 1 pseudogene 1 pseudogene pseudogene Approved 10q22.3 10q22.3 PRD class homeoboxes and pseudogenes 521 2005-08-08 2016-07-13 2016-08-17 503628 ENSG00000259021 OTTHUMG00000171166 NG_004836 8399 PGOHUM00000289916 HGNC:32176 +HGNC:32175 TPRX2 tetrapeptide repeat homeobox 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 TPRX2P1 TPRX2P tetrapeptide repeat homeobox 2, pseudogene PRD class homeoboxes and pseudogenes 521 2005-08-08 2021-11-10 2021-11-10 2021-11-10 503627 ENSG00000259009 OTTHUMG00000171165 NM_001397347 34097121 8401 PGOHUM00000295397 HGNC:32175 +HGNC:32178 TPRXL tetrapeptide repeat homeobox like (pseudogene) pseudogene pseudogene Approved 3p25.1 03p25.1 "FLJ35107|TPRX3P" tetrapeptide repeat homeobox like PRD class homeoboxes and pseudogenes 521 2005-08-08 2020-02-17 2020-02-17 348825 ENSG00000180438 OTTHUMG00000155509 uc062gyf.1 AK092426 NR_002223 Q17RH7 25981829 611167 8551 HGNC:32178 +HGNC:12019 TPSAB1 tryptase alpha/beta 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "tryptase alpha II|tryptase beta I|tryptase-I|tryptase-II|tryptase-III|mast cell tryptase" "TPSB1|TPS1|TPS2" tryptase beta 1 1990-11-07 2004-10-15 2004-10-14 2022-02-09 7177 ENSG00000172236 OTTHUMG00000090467 uc002ckz.4 M33494 NM_003294 CCDS10431 Q15661 "2203827|9920877" "MGI:96942|MGI:96943" RGD:3066 191080 S01.143 objectId:2424 HGNC:12019 "ENST00000338844.8|NM_003294.4" +HGNC:14120 TPSB2 tryptase beta 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "tryptase beta II|tryptase beta III" tryptase beta 2 (gene/pseudogene) 2000-12-21 2020-05-01 2020-05-01 64499 ENSG00000197253 OTTHUMG00000155926 uc059ovc.1 AF099143 NM_024164 P20231 19748655 "MGI:96942|MGI:96943" RGD:3065 191081 S01.015 HGNC:14120 "ENST00000606293.5|NM_024164.6" +HGNC:14118 TPSD1 tryptase delta 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "mMCP-7-like II|mMCP-7-like I|MMCP-7-LIKE-2" 2000-12-21 2015-09-08 23430 ENSG00000095917 OTTHUMG00000128511 uc002clb.2 AF206664 NM_012217 CCDS10432 Q9BZJ3 9920877 MGI:96943 609272 S01.054 3.4.21.59 HGNC:14118 "ENST00000211076.5|NM_012217.3" +HGNC:14134 TPSG1 tryptase gamma 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "TMT|PRSS31" "tryptase gamma II|tryptase gamma I" Serine proteases 738 2000-12-21 2015-08-26 25823 ENSG00000116176 OTTHUMG00000090466 uc002ckw.3 AF175759 NM_012467 CCDS10430 Q9NRR2 10521469 MGI:1349391 RGD:631355 609341 S01.028 objectId:2425 HGNC:14134 "ENST00000234798.5|NM_012467.4" +HGNC:14182 TPSP1 tryptase pseudogene 1 pseudogene pseudogene Approved 16p13.3 16p13.3 2000-12-21 2020-04-20 100129339 NG_008445 HGNC:14182 +HGNC:14136 TPSP2 tryptase pseudogene 2 pseudogene pseudogene Approved 16p13.3 16p13.3 Mastin 2000-12-21 2014-11-19 650474 ENSG00000260284 OTTHUMG00000172998 NG_008446 10843716 PGOHUM00000262267 HGNC:14136 +HGNC:12020 TPST1 tyrosylprotein sulfotransferase 1 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 TANGO13A transport and golgi organization 13 homolog A (Drosophila) Sulfotransferases, membrane bound 763 1998-10-14 2014-11-18 8460 ENSG00000169902 OTTHUMG00000023871 uc003tuw.4 AF038009 NM_003596 CCDS5533 O60507 9501187 MGI:1298231 RGD:1308473 603125 2.8.2.20 HGNC:12020 "ENST00000304842.6|NM_003596.4" +HGNC:12021 TPST2 tyrosylprotein sulfotransferase 2 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 TANGO13B "transport and golgi organization 13 homolog B (Drosophila)|protein-tyrosine sulfotransferase 2" "Sulfotransferases, membrane bound|MicroRNA protein coding host genes" "763|1691" 1998-10-14 2015-12-11 8459 ENSG00000128294 OTTHUMG00000150987 uc062cqc.1 AF049891 NM_003595 CCDS13839 O60704 "9736702|9733778" MGI:1309516 RGD:1305331 603126 471252 2.8.2.20 HGNC:12021 "ENST00000338754.9|NM_003595.5" +HGNC:44425 TPST2P1 tyrosylprotein sulfotransferase 2 pseudogene 1 pseudogene pseudogene Approved 15q14 15q14 2012-10-08 2015-08-19 100420710 ENSG00000260582 OTTHUMG00000172662 NG_025297 PGOHUM00000292910 HGNC:44425 +HGNC:12022 TPT1 tumor protein, translationally-controlled 1 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "TCTP|fortilin" Small nucleolar RNA protein coding host genes 1835 1992-09-17 2021-09-29 7178 ENSG00000133112 OTTHUMG00000016845 uc001uzy.3 X16064 NM_001286272 "CCDS9397|CCDS66538|CCDS73566" P13693 "2813067|10343127" MGI:104890 RGD:621623 600763 HGNC:12022 "ENST00000530705.6|NM_003295.4" +HGNC:43686 TPT1-AS1 TPT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.13 13q14.13 TPT1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-30 2012-08-15 2016-12-16 100190939 ENSG00000170919 OTTHUMG00000016851 uc058wui.1 AF318337 NR_024458 27764782 TPT1-AS1 HGNC:43686 +HGNC:16742 TPT1P1 TPT1 pseudogene 1 pseudogene pseudogene Approved 21q22.11 21q22.11 TPT1P "tumor protein, translationally-controlled 1 pseudogene|tumor protein, translationally-controlled 1 pseudogene 1" 2003-10-01 2010-08-18 2021-09-29 2021-09-29 100131268 ENSG00000234107 OTTHUMG00000084902 NG_021999 PGOHUM00000258122 HGNC:16742 +HGNC:49294 TPT1P2 TPT1 pseudogene 2 pseudogene pseudogene Approved 2q34 02q34 tumor protein, translationally-controlled 1 pseudogene 2 2013-10-15 2021-09-29 2021-09-29 100128483 ENSG00000228111 OTTHUMG00000154803 PGOHUM00000258137 HGNC:49294 +HGNC:49295 TPT1P3 TPT1 pseudogene 3 pseudogene pseudogene Approved 3q23 03q23 tumor protein, translationally-controlled 1 pseudogene 3 2013-10-15 2021-09-29 2021-09-29 100421439 ENSG00000241899 OTTHUMG00000159356 NG_025633 PGOHUM00000237796 HGNC:49295 +HGNC:49298 TPT1P4 TPT1 pseudogene 4 pseudogene pseudogene Approved 6q24.2 06q24.2 tumor protein, translationally-controlled 1 pseudogene 4 2013-10-15 2021-09-29 2021-09-29 285741 ENSG00000217027 OTTHUMG00000015740 NG_022331 PGOHUM00000243404 HGNC:49298 +HGNC:49296 TPT1P5 TPT1 pseudogene 5 pseudogene pseudogene Approved 5p13.3 05p13.3 tumor protein, translationally-controlled 1 pseudogene 5 2013-10-15 2021-09-29 2021-09-29 100421420 ENSG00000214108 OTTHUMG00000160377 NG_024662 PGOHUM00000258199 HGNC:49296 +HGNC:49297 TPT1P6 TPT1 pseudogene 6 pseudogene pseudogene Approved 6q14.3 06q14.3 tumor protein, translationally-controlled 1 pseudogene 6 2013-10-15 2021-09-29 2021-09-29 643870 ENSG00000214460 OTTHUMG00000015135 NG_030180 PGOHUM00000243273 HGNC:49297 +HGNC:49300 TPT1P7 TPT1 pseudogene 7 pseudogene pseudogene Approved 7p15.3 07p15.3 tumor protein, translationally-controlled 1 pseudogene 7 2013-10-15 2021-09-29 2021-09-29 102723852 ENSG00000231328 OTTHUMG00000152552 NG_042895 PGOHUM00000232618 HGNC:49300 +HGNC:24088 TPT1P8 TPT1 pseudogene 8 pseudogene pseudogene Approved 8p11.23 08p11.23 FKSG2 tumor protein, translationally-controlled 1 pseudogene 8 2013-10-15 2021-09-29 2021-09-29 59347 ENSG00000219491 OTTHUMG00000160404 NG_012761 Q9HAU6 MGI:104890 PGOHUM00000250024 HGNC:24088 +HGNC:49299 TPT1P9 TPT1 pseudogene 9 pseudogene pseudogene Approved 9q33.1 09q33.1 tumor protein, translationally-controlled 1 pseudogene 9 2013-10-15 2021-09-29 2021-09-29 389787 ENSG00000234782 OTTHUMG00000020565 NG_021634 PGOHUM00000236321 HGNC:49299 +HGNC:49301 TPT1P10 TPT1 pseudogene 10 pseudogene pseudogene Approved 10q21.1 10q21.1 tumor protein, translationally-controlled 1 pseudogene 10 2013-10-15 2021-09-29 2021-09-29 101928715 ENSG00000180221 OTTHUMG00000018265 PGOHUM00000257781 HGNC:49301 +HGNC:49302 TPT1P11 TPT1 pseudogene 11 pseudogene pseudogene Approved 2p16.3 02p16.3 tumor protein, translationally-controlled 1 pseudogene 11 2013-10-15 2021-09-29 2021-09-29 102724868 ENSG00000239995 OTTHUMG00000151767 NG_046582 PGOHUM00000240037 HGNC:49302 +HGNC:49303 TPT1P12 TPT1 pseudogene 12 pseudogene pseudogene Approved 12p13.31 12p13.31 tumor protein, translationally-controlled 1 pseudogene 12 2013-10-15 2021-09-29 2021-09-29 100421480 ENSG00000256817 OTTHUMG00000168329 NG_023974 PGOHUM00000258615 HGNC:49303 +HGNC:49304 TPT1P13 TPT1 pseudogene 13 pseudogene pseudogene Approved Xq25 Xq25 tumor protein, translationally-controlled 1 pseudogene 13 2013-10-15 2021-09-29 2021-09-29 643421 ENSG00000213498 OTTHUMG00000022323 NG_023285 PGOHUM00000241525 HGNC:49304 +HGNC:49305 TPT1P14 TPT1 pseudogene 14 pseudogene pseudogene Approved Xp22.2 Xp22.2 tumor protein, translationally-controlled 1 pseudogene 14 2013-10-15 2021-09-29 2021-09-29 100128521 ENSG00000235929 OTTHUMG00000021169 NG_022583 PGOHUM00000241195 HGNC:49305 +HGNC:55881 TPT1P15 TPT1 pseudogene 15 pseudogene pseudogene Approved Xq13.1 Xq13.1 2021-09-29 2021-09-29 122965329 ENSG00000225471 PGOHUM00000305139 +HGNC:12023 TPTE transmembrane phosphatase with tensin homology protein-coding gene gene with protein product Approved 21p11.2 21p11.2 "PTEN2|CT44" "PTEN-related tyrosine phosphatase|cancer/testis antigen 44" "C2 tensin-type domain containing|PTEN protein phosphatases" "837|902" 1998-03-10 2018-03-28 7179 ENSG00000274391 OTTHUMG00000074127 uc002yip.2 AF007118 NM_199261 "CCDS74771|CCDS77617|CCDS74772|CCDS74773" P56180 "14659893|11810268" MGI:2446460 604336 HGNC:12023 "ENST00000618007.5|NM_199261.4" +HGNC:17299 TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 TPIP "C2 tensin-type domain containing|PTEN protein phosphatases" "837|902" 2004-04-16 2017-07-12 93492 ENSG00000132958 OTTHUMG00000016493 uc001ume.4 AJ421032 NM_199254 "CCDS9285|CCDS45013|CCDS45014" Q6XPS3 "11716755|12717346|15057823" MGI:2446460 RGD:1305825 606791 HGNC:17299 +HGNC:35196 TPTE2P1 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1 pseudogene pseudogene Approved 13q12.13 13q12.13 2008-10-21 2015-12-11 646405 ENSG00000253771 OTTHUMG00000016596 NR_026730 Q5T6R2 PGOHUM00000291897 HGNC:35196 +HGNC:38076 TPTE2P2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 2 pseudogene pseudogene Approved 13q14.3 13q14.3 2010-04-09 2015-12-11 644623 ENSG00000272281 OTTHUMG00000016961 XR_007063808 PGOHUM00000291965 HGNC:38076 +HGNC:27345 TPTE2P3 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 pseudogene pseudogene Approved 13q14.3 13q14.3 2010-04-09 2021-06-11 220115 ENSG00000244471 OTTHUMG00000016976 BC041889 NR_002793 PGOHUM00000292159 HGNC:27345 +HGNC:38077 TPTE2P4 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 4 pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-04-09 2015-12-11 286573 ENSG00000215506 OTTHUMG00000036765 NG_002820 PGOHUM00000305791 HGNC:38077 +HGNC:42356 TPTE2P5 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 5 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-07-01 2015-12-11 100616668 ENSG00000168852 OTTHUMG00000016779 NR_038258 PGOHUM00000291933 HGNC:42356 +HGNC:42644 TPTE2P6 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 pseudogene pseudogene Approved 13q12.12 13q12.12 2011-08-10 2015-12-11 374491 ENSG00000205822 OTTHUMG00000016586 NR_002815 PGOHUM00000292099 HGNC:42644 +HGNC:43648 TPTEP1 TPTE pseudogene 1 pseudogene pseudogene Approved 22q11.1 22q11.1 psiTPTE22 transmembrane phosphatase with tensin homology pseudogene 1 2011-12-16 2018-03-28 2018-03-28 387590 ENSG00000100181 OTTHUMG00000141300 uc002zls.2 NR_001591 14659893 PGOHUM00000250333 HGNC:43648 +HGNC:53828 TPTEP2 TPTE pseudogene 2 pseudogene pseudogene Approved 22q13.1 22q13.1 Z98749.2 2018-03-28 2018-03-28 400927 ENSG00000244627 OTTHUMG00000151245 NR_002821 HGNC:53828 +HGNC:53829 TPTEP2-CSNK1E TPTEP2-CSNK1E readthrough other readthrough Approved 22q13.1 22q13.1 2018-03-28 2018-03-28 102800317 ENSG00000283900 OTTHUMG00000192148 NM_001289912 MGI:1351660 HGNC:53829 +HGNC:1249 TPX2 TPX2 microtubule nucleation factor protein-coding gene gene with protein product Approved 20q11.21 20q11.21 "p100|DIL-2|HCA519|FLS353" "Targeting protein for Xklp2|differentially expressed in cancerous and noncancerous lung cells 2|hepatocellular carcinoma-associated antigen 519" "C20orf2|C20orf1" "chromosome 20 open reading frame 1|TPX2, microtubule-associated, homolog (Xenopus laevis)|TPX2, microtubule-associated" 1999-09-29 2003-10-08 2019-01-21 2021-11-29 22974 ENSG00000088325 OTTHUMG00000032190 uc002wwp.2 AF098158 NM_012112 CCDS13190 Q9ULW0 "9207457|10393424|12389033|12177045" MGI:1919369 RGD:1311894 605917 HGNC:1249 "ENST00000300403.11|NM_012112.5" HGNC:1249 +HGNC:12027 TRA T cell receptor alpha locus protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "TCRA|TRA@" TCRA, TRA@ T cell receptor alpha locus at 14q11.2 371 1986-01-01 2013-03-05 2017-12-06 2017-12-06 6955 NG_001332 "P0DSE1|P0DTU3" "3875152|3875483" 330881 HGNC:12027 +HGNC:34914 TRA-AGC1-1 tRNA-Ala (anticodon AGC) 1-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-AGC-1-1 TRNAA34 "transfer RNA alanine 34 (anticodon AGC)|transfer RNA-Ala (AGC) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189346 HG983548 tRNA-Ala-AGC-1-1 HGNC:34914 +HGNC:34654 TRA-AGC2-1 tRNA-Ala (anticodon AGC) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-AGC-2-1 TRNAA13 "transfer RNA alanine 13 (anticodon AGC)|transfer RNA-Ala (AGC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189093 HG983549 tRNA-Ala-AGC-2-1 HGNC:34654 +HGNC:34861 TRA-AGC2-2 tRNA-Ala (anticodon AGC) 2-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-AGC-2-2 TRNAA27 "transfer RNA alanine 27 (anticodon AGC)|transfer RNA-Ala (AGC) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189295 HG983550 tRNA-Ala-AGC-2-2 HGNC:34861 +HGNC:34865 TRA-AGC3-1 tRNA-Ala (anticodon AGC) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-AGC-3-1 TRNAA28 "transfer RNA alanine 28 (anticodon AGC)|transfer RNA-Ala (AGC) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189299 HG983551 tRNA-Ala-AGC-3-1 HGNC:34865 +HGNC:34605 TRA-AGC4-1 tRNA-Ala (anticodon AGC) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-AGC-4-1 TRNAA7 "transfer RNA alanine 7 (anticodon AGC)|transfer RNA-Ala (AGC) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189046 HG983552 tRNA-Ala-AGC-4-1 HGNC:34605 +HGNC:34606 TRA-AGC5-1 tRNA-Ala (anticodon AGC) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-AGC-5-1 TRNAA8 "transfer RNA alanine 8 (anticodon AGC)|transfer RNA-Ala (AGC) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189047 HG983553 tRNA-Ala-AGC-5-1 HGNC:34606 +HGNC:34601 TRA-AGC6-1 tRNA-Ala (anticodon AGC) 6-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-AGC-6-1 TRNAA6 "transfer RNA alanine 6 (anticodon AGC)|transfer RNA-Ala (AGC) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189042 HG983554 tRNA-Ala-AGC-6-1 HGNC:34601 +HGNC:34653 TRA-AGC7-1 tRNA-Ala (anticodon AGC) 7-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-AGC-7-1 TRNAA12 "transfer RNA alanine 12 (anticodon AGC)|transfer RNA-Ala (AGC) 7-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189092 HG983555 tRNA-Ala-AGC-7-1 HGNC:34653 +HGNC:33254 TRA-AGC8-1 tRNA-Ala (anticodon AGC) 8-1 non-coding RNA RNA, transfer Approved 2p23.3 02p23.3 tRNA-Ala-AGC-8-1 TRNAA3 "transfer RNA alanine 3 (anticodon AGC)|transfer RNA-Ala (AGC) 8-1" Cytoplasmic transfer RNAs 842 2007-02-01 2014-06-19 2019-04-03 2019-04-03 100009604 HG983556 3613974 tRNA-Ala-AGC-8-1 HGNC:33254 +HGNC:34966 TRA-AGC8-2 tRNA-Ala (anticodon AGC) 8-2 non-coding RNA RNA, transfer Approved 8q13.1 08q13.1 tRNA-Ala-AGC-8-2 TRNAA39 "transfer RNA alanine 39 (anticodon AGC)|transfer RNA-Ala (AGC) 8-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189398 HG983557 tRNA-Ala-AGC-8-2 HGNC:34966 +HGNC:34718 TRA-AGC9-1 tRNA-Ala (anticodon AGC) 9-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-AGC-9-1 TRNAA20 "transfer RNA alanine 20 (anticodon AGC)|transfer RNA-Ala (AGC) 9-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189156 HG983558 tRNA-Ala-AGC-9-1 HGNC:34718 +HGNC:34992 TRA-AGC9-2 tRNA-Ala (anticodon AGC) 9-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-AGC-9-2 TRNAA42 "transfer RNA alanine 42 (anticodon AGC)|transfer RNA-Ala (AGC) 9-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189423 HG983559 tRNA-Ala-AGC-9-2 +HGNC:34690 TRA-AGC10-1 tRNA-Ala (anticodon AGC) 10-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-AGC-10-1 TRNAA18 "transfer RNA alanine 18 (anticodon AGC)|transfer RNA-Ala (AGC) 10-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189128 HG983560 tRNA-Ala-AGC-10-1 HGNC:34690 +HGNC:33253 TRA-AGC11-1 tRNA-Ala (anticodon AGC) 11-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-AGC-11-1 TRNAA2 "transfer RNA alanine 2 (anticodon AGC)|transfer RNA-Ala (AGC) 11-1" Cytoplasmic transfer RNAs 842 2007-02-01 2014-06-19 2019-04-03 2019-04-03 100009603 HG983561 3613974 tRNA-Ala-AGC-11-1 HGNC:33253 +HGNC:34937 TRA-AGC12-1 tRNA-Ala (anticodon AGC) 12-1 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ala-AGC-12-1 TRNAA37 "transfer RNA alanine 37 (anticodon AGC)|transfer RNA-Ala (AGC) 12-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189369 HG983562 tRNA-Ala-AGC-12-1 HGNC:34937 +HGNC:34894 TRA-AGC12-2 tRNA-Ala (anticodon AGC) 12-2 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ala-AGC-12-2 TRNAA31 "transfer RNA alanine 31 (anticodon AGC)|transfer RNA-Ala (AGC) 12-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189327 HG983563 tRNA-Ala-AGC-12-2 +HGNC:34667 TRA-AGC12-3 tRNA-Ala (anticodon AGC) 12-3 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ala-AGC-12-3 TRNAA14 "transfer RNA alanine 14 (anticodon AGC)|transfer RNA-Ala (AGC) 12-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189106 HG983564 tRNA-Ala-AGC-12-3 HGNC:34667 +HGNC:34980 TRA-AGC13-1 tRNA-Ala (anticodon AGC) 13-1 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ala-AGC-13-1 TRNAA41 "transfer RNA alanine 41 (anticodon AGC)|transfer RNA-Ala (AGC) 13-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189411 HG983565 tRNA-Ala-AGC-13-1 HGNC:34980 +HGNC:34619 TRA-AGC13-2 tRNA-Ala (anticodon AGC) 13-2 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ala-AGC-13-2 TRNAA9 "transfer RNA alanine 9 (anticodon AGC)|transfer RNA-Ala (AGC) 13-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189060 HG983566 tRNA-Ala-AGC-13-2 HGNC:34619 +HGNC:54208 TRA-AGC13-3 tRNA-Ala (anticodon AGC) 13-3 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-AGC-13-3 2019-04-03 2019-04-03 +HGNC:34926 TRA-AGC14-1 tRNA-Ala (anticodon AGC) 14-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-AGC-14-1 TRNAA36 "transfer RNA alanine 36 (anticodon AGC)|transfer RNA-Ala (AGC) 14-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189358 HG983567 tRNA-Ala-AGC-14-1 HGNC:34926 +HGNC:54706 TRA-AGC14-2 tRNA-Ala (anticodon AGC) 14-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-AGC-14-2 Cytoplasmic transfer RNAs 842 2019-12-06 2020-02-13 116485202 +HGNC:34679 TRA-AGC15-1 tRNA-Ala (anticodon AGC) 15-1 non-coding RNA RNA, transfer Approved 14q31.3 14q31.3 tRNA-Ala-AGC-15-1 TRNAA17 "transfer RNA alanine 17 (anticodon AGC)|transfer RNA-Ala (AGC) 15-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189117 HG983568 tRNA-Ala-AGC-15-1 HGNC:34679 +HGNC:34879 TRA-AGC16-1 tRNA-Ala (anticodon AGC) 16-1 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ala-AGC-16-1 TRNAA30 "transfer RNA alanine 30 (anticodon AGC)|transfer RNA-Ala (AGC) 16-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189312 HG983569 tRNA-Ala-AGC-16-1 HGNC:34879 +HGNC:34921 TRA-AGC17-1 tRNA-Ala (AGC) 17-1 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ala-AGC-17-1 TRNAA35 "transfer RNA alanine 35 (anticodon AGC)|transfer RNA-Ala (AGC) 17-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189353 HG983570 tRNA-Ala-AGC-17-1 +HGNC:34909 TRA-AGC18-1 tRNA-Ala (AGC) 18-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-AGC-18-1 TRNAA33 "transfer RNA alanine 33 (anticodon AGC)|transfer RNA-Ala (AGC) 18-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189341 HG983571 tRNA-Ala-AGC-18-1 +HGNC:34775 TRA-AGC18-2 tRNA-Ala (AGC) 18-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-AGC-18-2 TRNAA22 "transfer RNA alanine 22 (anticodon AGC)|transfer RNA-Ala (AGC) 18-2" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189212 HG983572 tRNA-Ala-AGC-18-2 +HGNC:34809 TRA-AGC19-1 tRNA-Ala (AGC) 19-1 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ala-AGC-19-1 TRNAA24 "transfer RNA alanine 24 (anticodon AGC)|transfer RNA-Ala (AGC) 19-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189246 HG983573 tRNA-Ala-AGC-19-1 +HGNC:34678 TRA-AGC20-1 tRNA-Ala (AGC) 20-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Ala-AGC-20-1 TRNAA16 "transfer RNA alanine 16 (anticodon AGC)|transfer RNA-Ala (AGC) 20-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189116 HG983574 tRNA-Ala-AGC-20-1 +HGNC:34755 TRA-AGC21-1 tRNA-Ala (AGC) 21-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-AGC-21-1 TRNAA21 "transfer RNA alanine 21 (anticodon AGC)|transfer RNA-Ala (AGC) 21-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189192 HG983575 tRNA-Ala-AGC-21-1 +HGNC:35004 TRA-AGC22-1 tRNA-Ala (anticodon AGC) 22-1 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ala-AGC-22-1 TRNAA43 "transfer RNA alanine 43 (anticodon AGC)|transfer RNA-Ala (AGC) 22-1|tRNA-Ala (AGC) 22-1" 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189434 HG983576 tRNA-Ala-AGC-22-1 +HGNC:35040 TRA-AGC23-1 tRNA-Ala (anticodon AGC) 23-1 pseudogene pseudogene Approved 6p22.1 06p22.1 tRNA-Ala-AGC-23-1 TRNAA44P "transfer RNA alanine 44 (anticodon AGC) pseudogene|transfer RNA-Ala (AGC) 23-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189468 HG983577 NG_008526 tRNA-Ala-AGC-23-1 HGNC:35040 +HGNC:54707 TRA-AGC24-1 tRNA-Ala (anticodon AGC) 24-1 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ala-AGC-24-1 Cytoplasmic transfer RNAs 842 2019-12-06 2020-02-13 116485204 +HGNC:34875 TRA-CGC1-1 tRNA-Ala (anticodon CGC) 1-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ala-CGC-1-1 TRNAA29 "transfer RNA alanine 29 (anticodon CGC)|transfer RNA-Ala (CGC) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189308 HG983578 tRNA-Ala-CGC-1-1 HGNC:34875 +HGNC:34969 TRA-CGC2-1 tRNA-Ala (anticodon CGC) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-CGC-2-1 TRNAA40 "transfer RNA alanine 40 (anticodon CGC)|transfer RNA-Ala (CGC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189400 HG983579 tRNA-Ala-CGC-2-1 HGNC:34969 +HGNC:34580 TRA-CGC3-1 tRNA-Ala (anticodon CGC) 3-1 non-coding RNA RNA, transfer Approved 2q24.1 02q24.1 tRNA-Ala-CGC-3-1 TRNAA4 "transfer RNA alanine 4 (anticodon CGC)|transfer RNA-Ala (CGC) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189021 HG983580 tRNA-Ala-CGC-3-1 HGNC:34580 +HGNC:34592 TRA-CGC4-1 tRNA-Ala (anticodon CGC) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-CGC-4-1 TRNAA5 "transfer RNA alanine 5 (anticodon CGC)|transfer RNA-Ala (CGC) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189033 HG983581 tRNA-Ala-CGC-4-1 HGNC:34592 +HGNC:34963 TRA-CGC5-1 tRNA-Ala (CGC) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-CGC-5-1 TRNAA38 "transfer RNA alanine 38 (anticodon CGC)|transfer RNA-Ala (CGC) 5-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189395 HG983582 tRNA-Ala-CGC-5-1 HGNC:34963 +HGNC:34711 TRA-TGC1-1 tRNA-Ala (anticodon TGC) 1-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-TGC-1-1 TRNAA19 "transfer RNA alanine 19 (anticodon UGC)|transfer RNA-Ala (TGC) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189149 HG983583 tRNA-Ala-TGC-1-1 HGNC:34711 +HGNC:34676 TRA-TGC2-1 tRNA-Ala (anticodon TGC) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-TGC-2-1 TRNAA15 "transfer RNA alanine 15 (anticodon UGC)|transfer RNA-Ala (TGC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189114 HG983584 tRNA-Ala-TGC-2-1 HGNC:34676 +HGNC:34846 TRA-TGC3-1 tRNA-Ala (anticodon TGC) 3-1 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Ala-TGC-3-1 "TRNAA26|TRA-TGC3-2" "transfer RNA alanine 26 (anticodon UGC)|transfer RNA-Ala (TGC) 3-2|transfer RNA-Ala (TGC) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189280 HG983586 tRNA-Ala-TGC-3-1 HGNC:34846 +HGNC:34795 TRA-TGC3-2 tRNA-Ala (anticodon TGC) 3-2 non-coding RNA RNA, transfer Approved 12q24.31 12q24.31 tRNA-Ala-TGC-3-2 "TRNAA23|TRA-TGC3-1" "transfer RNA alanine 23 (anticodon UGC)|transfer RNA-Ala (TGC) 3-1|transfer RNA-Ala (TGC) 3-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189232 HG983585 tRNA-Ala-TGC-3-2 HGNC:34795 +HGNC:34907 TRA-TGC4-1 tRNA-Ala (anticodon TGC) 4-1 non-coding RNA RNA, transfer Approved 12q24.31 12q24.31 tRNA-Ala-TGC-4-1 TRNAA32 "transfer RNA alanine 32 (anticodon UGC)|transfer RNA-Ala (TGC) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189339 HG983587 tRNA-Ala-TGC-4-1 HGNC:34907 +HGNC:34625 TRA-TGC5-1 tRNA-Ala (anticodon TGC) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-TGC-5-1 TRNAA10 "transfer RNA alanine 10 (anticodon UGC)|transfer RNA-Ala (TGC) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189066 HG983588 tRNA-Ala-TGC-5-1 HGNC:34625 +HGNC:34642 TRA-TGC6-1 tRNA-Ala (anticodon TGC) 6-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-TGC-6-1 TRNAA11 "transfer RNA alanine 11 (anticodon UGC)|transfer RNA-Ala (TGC) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189082 HG983589 tRNA-Ala-TGC-6-1 HGNC:34642 +HGNC:12098 TRA-TGC7-1 tRNA-Ala (anticodon TGC) 7-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ala-TGC-7-1 "TRAN|TRNAA1" "tRNA alanine|transfer RNA alanine 1 (anticodon UGC)|transfer RNA-Ala (TGC) 7-1" Cytoplasmic transfer RNAs 842 1995-05-08 2014-06-19 2019-04-03 2019-04-03 7154 HG983590 8661117 601431 tRNA-Ala-TGC-7-1 HGNC:12098 +HGNC:34819 TRA-TGC8-1 tRNA-Ala (TGC) 8-1 non-coding RNA RNA, transfer Approved 11p11.12 11p11.12 tRNA-Ala-TGC-8-1 TRNAA25 "transfer RNA alanine 25 (anticodon UGC)|transfer RNA-Ala (TGC) 8-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189256 HG983591 tRNA-Ala-TGC-8-1 +HGNC:35106 TRA-TGC9-1 tRNA-Ala (anticodon TGC) 9-1 pseudogene pseudogene Approved 6p22.1 06p22.1 tRNA-Ala-TGC-9-1 TRNAA46P "transfer RNA alanine 46 (anticodon UGC) pseudogene|transfer RNA-Ala (TGC) 9-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189529 HG983592 NG_008587 tRNA-Ala-TGC-9-1 HGNC:35106 +HGNC:35041 TRA-TGC10-1 tRNA-Ala (TGC) 10-1 non-coding RNA RNA, transfer Approved 11q12.2 11q12.2 tRNA-Ala-TGC-10-1 TRNAA45P "transfer RNA alanine 45 (anticodon UGC) pseudogene|transfer RNA-Ala (TGC) 10-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189469 HG983593 NG_008527 tRNA-Ala-TGC-10-1 HGNC:35041 +HGNC:16645 TRA2A transformer 2 alpha homolog protein-coding gene gene with protein product Approved 7p15.3 07p15.3 "htra-2-alpha|AWMS1" transformer 2 alpha homolog (Drosophila) RNA binding motif containing 725 2009-02-27 2016-04-11 2020-05-04 29896 ENSG00000164548 OTTHUMG00000128459 uc003swi.5 U53209 NM_013293 "CCDS5383|CCDS75569|CCDS64609" Q13595 "8799144|9546399" MGI:1933972 RGD:1562563 602718 HGNC:16645 "ENST00000297071.9|NM_013293.5" +HGNC:10781 TRA2B transformer 2 beta homolog protein-coding gene gene with protein product Approved 3q27.2 03q27.2 "Htra2-beta|PPP1R156" protein phosphatase 1, regulatory subunit 156 SFRS10 "splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)|transformer 2 beta homolog (Drosophila)" "Protein phosphatase 1 regulatory subunits|RNA binding motif containing" "694|725" 1998-04-27 2009-02-27 2017-04-06 2017-04-06 6434 ENSG00000136527 OTTHUMG00000156641 uc003fpv.4 AF057159 NM_004593 "CCDS58872|CCDS33905" P62995 9790768 MGI:106016 RGD:619886 602719 HGNC:10781 "ENST00000453386.7|NM_004593.3" +HGNC:28805 TRABD TraB domain containing protein-coding gene gene with protein product Approved 22q13.33 22q13.33 PP2447 2006-07-06 2022-01-10 80305 ENSG00000170638 OTTHUMG00000044644 uc003bjs.2 AL449244 NM_025204 "CCDS14086|CCDS82724" Q9H4I3 33618253 MGI:1915226 RGD:1310875 HGNC:28805 "ENST00000380909.9|NM_001320485.2" +HGNC:56049 TRABD-AS1 TRABD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.33 22q13.33 Antisense RNAs 1987 2021-12-09 2021-12-09 123706513 ENSG00000273253 +HGNC:27013 TRABD2A TraB domain containing 2A protein-coding gene gene with protein product Approved 2p11.2 02p11.2 TIKI1 C2orf89 chromosome 2 open reading frame 89 2009-09-30 2012-07-04 2012-07-04 2015-09-08 129293 ENSG00000186854 OTTHUMG00000152922 uc002sou.6 BC049209 NM_001080824 "CCDS62946|CCDS77428|CCDS46349" Q86V40 "22726442|25354456" 614912 M96.001 HGNC:27013 "ENST00000409520.7|NM_001277053.2" +HGNC:44200 TRABD2B TraB domain containing 2B protein-coding gene gene with protein product Approved 1p33 01p33 TIKI2 2012-07-04 2015-02-02 388630 ENSG00000269113 OTTHUMG00000007960 uc021ong.2 NM_001194986 CCDS58000 A6NFA1 25354456 MGI:3650152 RGD:1586386 614913 HGNC:44200 "ENST00000606738.3|NM_001194986.2" +HGNC:12029 TRAC T cell receptor alpha constant other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28755 ENSG00000277734 OTTHUMG00000028683 uc032auu.2 X02592 NG_001332 P01848 "3875483|8188290" 186880 401908 TRAC HGNC:12029 HGNC:12029 +HGNC:12030 TRADD TNFRSF1A associated via death domain protein-coding gene gene with protein product Approved 16q22.1 16q22.1 Hs.89862 TNFRSF1A-associated via death domain 1999-05-07 2016-04-20 2016-10-05 8717 ENSG00000102871 OTTHUMG00000137519 uc002eri.2 L41690 NM_001323552 CCDS10829 Q15628 "7758105|22333735" MGI:109200 RGD:621313 603500 HGNC:12030 "ENST00000345057.9|NM_003789.4" +HGNC:12031 TRAF1 TNF receptor associated factor 1 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 EBI6 TNF receptor associated factors 1056 1997-06-12 2015-11-20 2016-10-05 7185 ENSG00000056558 OTTHUMG00000020578 uc010mvl.2 AK090468 NM_005658 "CCDS6825|CCDS55335" Q13077 8069916 MGI:101836 RGD:1596290 601711 HGNC:12031 "ENST00000373887.8|NM_005658.5" +HGNC:12032 TRAF2 TNF receptor associated factor 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "TRAP3|RNF117" "Ring finger proteins|TNF receptor associated factors|MicroRNA protein coding host genes" "58|1056|1691" 1999-04-28 2015-11-20 2017-12-15 7186 ENSG00000127191 OTTHUMG00000020952 uc004cjv.4 U12597 NM_021138 CCDS7013 Q12933 7639698 MGI:101835 RGD:1310457 601895 HGNC:12032 "ENST00000247668.7|NM_021138.4" +HGNC:12033 TRAF3 TNF receptor associated factor 3 protein-coding gene gene with protein product Approved 14q32.32 14q32.32 "CAP-1|CD40bp|CRAF1|LAP1|RNF118" "Ring finger proteins|TNF receptor associated factors" "58|1056" 1998-05-05 2015-11-20 2021-05-26 7187 ENSG00000131323 OTTHUMG00000171902 uc001ymd.3 U21092 NM_145725 "CCDS55946|CCDS9976|CCDS9975" Q13114 "7530216|7859281" MGI:108041 RGD:1304633 LRG_229|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_229.xml 601896 292425 HGNC:12033 "ENST00000392745.8|NM_145725.3" +HGNC:17861 TRAF3IP1 TRAF3 interacting protein 1 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "MIP-T3|DKFZP434F124|MIPT3|IFT54|FAP116" microtubule interacting protein that associates with TRAF3 TNF receptor-associated factor 3 interacting protein 1 IFT-B2 complex 1981 2004-03-12 2015-11-20 2020-01-28 26146 ENSG00000204104 OTTHUMG00000152872 uc002vye.4 AF230877 NM_015650 "CCDS33415|CCDS46557" Q8TDR0 "10791955|12935900|28154159" MGI:1921269 RGD:1309252 607380 444522 HGNC:17861 "ENST00000373327.5|NM_015650.4" HGNC:17861 +HGNC:1343 TRAF3IP2 TRAF3 interacting protein 2 protein-coding gene gene with protein product Approved 6q21 06q21 "DKFZP586G0522|ACT1|CIKS" "C6orf4|C6orf5|C6orf6|C6orf2" "chromosome 6 open reading frame 5|chromosome 6 open reading frame 2" 1999-04-15 2005-04-13 2002-06-20 2021-04-13 10758 ENSG00000056972 OTTHUMG00000015379 uc003pvf.5 AF136405 NM_001164281 "CCDS5092|CCDS5093|CCDS55049|CCDS55050" O43734 "10962033|10962024" MGI:2143599 RGD:1593240 LRG_1337|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1337.xml 607043 370364 HGNC:1343 "ENST00000368761.11|NM_147686.4" HGNC:1343 +HGNC:40005 TRAF3IP2-AS1 TRAF3IP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q21 06q21 "C6UAS|BetaFAAR" Beta-cell function and apoptosis regulator "TRAF3IP2-AS2|C6orf3|NCRNA00248" "TRAF3IP2 antisense RNA 2 (non-protein coding)|chromosome 6 open reading frame 3|non-protein coding RNA 248|TRAF3IP2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2011-04-28 2012-08-15 2021-07-20 643749 ENSG00000231889 OTTHUMG00000015378 uc063qri.1 NR_034108 "33941656|34183666" MGI:3036287 TRAF3IP2-AS1 HGNC:40005 +HGNC:30766 TRAF3IP3 TRAF3 interacting protein 3 protein-coding gene gene with protein product Approved 1q32.2 01q32.2 T3JAM TRAF3 interacting Jun N terminal kinase (JNK) activating modulator 2005-06-02 2016-10-05 80342 ENSG00000009790 OTTHUMG00000036480 uc001hho.5 NM_001287754 "CCDS73023|CCDS81422|CCDS1490" Q9Y228 14572659 MGI:2441706 RGD:1304848 608255 HGNC:30766 "ENST00000367025.8|NM_025228.4" +HGNC:12034 TRAF4 TNF receptor associated factor 4 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "CART1|MLN62|RNF83" "Ring finger proteins|TNF receptor associated factors" "58|1056" 1999-05-07 2015-11-20 2016-10-05 9618 ENSG00000076604 OTTHUMG00000132677 uc002hcs.4 X80200 NM_145751 CCDS11243 Q9BUZ4 "7592751|7490069" MGI:1202880 RGD:1306708 602464 HGNC:12034 "ENST00000262395.10|NM_004295.4" +HGNC:12035 TRAF5 TNF receptor associated factor 5 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 RNF84 "Ring finger proteins|TNF receptor associated factors" "58|1056" 1997-02-03 2015-11-20 2016-10-05 7188 ENSG00000082512 OTTHUMG00000036997 uc001hih.4 AB000509 NM_004619 CCDS1497 O00463 9126477 MGI:107548 RGD:1593883 602356 HGNC:12035 "ENST00000261464.10|NM_001033910.3" +HGNC:12036 TRAF6 TNF receptor associated factor 6 protein-coding gene gene with protein product Approved 11p12 11p12 RNF85 RING finger protein 85 TNF receptor-associated factor 6, E3 ubiquitin protein ligase "Ring finger proteins|TNF receptor associated factors" "58|1056" 1997-06-12 2015-11-20 2021-11-29 7189 ENSG00000175104 OTTHUMG00000166391 uc001mws.3 NM_145803 CCDS7901 Q9Y4K3 8837778 MGI:108072 RGD:1306853 602355 325281 HGNC:12036 "ENST00000526995.6|NM_004620.4" HGNC:12036 +HGNC:45032 TRAF6P1 TNF receptor associated factor 6 pseudogene 1 pseudogene pseudogene Approved 10q21.1 10q21.1 2013-01-08 2015-11-20 2015-11-20 644871 ENSG00000226557 OTTHUMG00000018274 NG_022147 PGOHUM00000238497 HGNC:45032 +HGNC:20456 TRAF7 TNF receptor associated factor 7 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "RNF119|DKFZp586I021|MGC7807" RFWD1 "ring finger and WD repeat domain 1|TNF receptor-associated factor 7, E3 ubiquitin protein ligase" "Ring finger proteins|WD repeat domain containing|TNF receptor associated factors" "58|362|1056" 2003-02-14 2004-06-04 2015-11-20 2021-05-26 84231 ENSG00000131653 OTTHUMG00000128826 uc002cow.4 AL136921 NM_032271 CCDS10461 Q6Q0C0 "11230166|15001576" MGI:3042141 RGD:1559653 TRAF7 606692 HGNC:20456 "ENST00000326181.11|NM_032271.3" HGNC:20456 +HGNC:24808 TRAFD1 TRAF-type zinc finger domain containing 1 protein-coding gene gene with protein product Approved 12q24.13 12q24.13 FLN29 2005-05-30 2019-03-20 10906 ENSG00000135148 OTTHUMG00000169640 uc001ttp.4 AB007447 NM_006700 CCDS9160 O14545 "16221674|25992615" MGI:1923551 RGD:620171 613197 HGNC:24808 "ENST00000412615.7|NM_006700.3" +HGNC:30764 TRAIP TRAF interacting protein protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "TRIP|RNF206" ring finger protein 206 Ring finger proteins 58 2006-01-09 2014-11-19 10293 ENSG00000183763 OTTHUMG00000158269 uc003cxs.2 BC019283 NM_005879 CCDS2806 Q9BWF2 9104814 MGI:1096377 RGD:1309761 605958 448855 HGNC:30764 "ENST00000331456.7|NM_005879.3" HGNC:30764 +HGNC:12037 TRAJ1 T cell receptor alpha joining 1 (non-functional) other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28754 ENSG00000211888 OTTHUMG00000170966 uc058zhi.1 X02884 NG_001332 "8188290|2993909" TRAJ1 HGNC:12037 +HGNC:12048 TRAJ2 T cell receptor alpha joining 2 (non-functional) other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28753 ENSG00000211887 OTTHUMG00000170965 uc058zhh.1 X02884 NG_001332 "2993909|8188290" TRAJ2 HGNC:12048 +HGNC:12059 TRAJ3 T cell receptor alpha joining 3 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28752 ENSG00000211886 OTTHUMG00000170964 uc058zhg.1 X02884 NG_001332 A0A075B6Y3 "2993909|8188290" TRAJ3 HGNC:12059 +HGNC:12070 TRAJ4 T cell receptor alpha joining 4 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28751 ENSG00000211885 OTTHUMG00000170963 uc058zhf.1 M94081 NG_001332 8188290 TRAJ4 HGNC:12070 +HGNC:12081 TRAJ5 T cell receptor alpha joining 5 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28750 ENSG00000211884 OTTHUMG00000170962 uc058zhe.1 M94081 NG_001332 8188290 TRAJ5 HGNC:12081 +HGNC:12092 TRAJ6 T cell receptor alpha joining 6 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28749 ENSG00000211883 OTTHUMG00000170961 uc058zhd.1 M16747 NG_001332 "3036367|8188290" TRAJ6 HGNC:12092 +HGNC:12095 TRAJ7 T cell receptor alpha joining 7 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28748 ENSG00000211882 OTTHUMG00000170960 uc032ave.2 M94081 NG_001332 8188290 TRAJ7 HGNC:12095 +HGNC:12096 TRAJ8 T cell receptor alpha joining 8 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28747 ENSG00000211881 OTTHUMG00000170959 M94081 NG_001332 8188290 TRAJ8 HGNC:12096 +HGNC:12097 TRAJ9 T cell receptor alpha joining 9 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28746 ENSG00000211880 OTTHUMG00000170958 uc058zhc.1 M94081 NG_001332 8188290 TRAJ9 HGNC:12097 +HGNC:12038 TRAJ10 T cell receptor alpha joining 10 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28745 ENSG00000211879 OTTHUMG00000170957 uc058zhb.1 M94081 NG_001332 8188290 TRAJ10 HGNC:12038 +HGNC:12039 TRAJ11 T cell receptor alpha joining 11 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28744 ENSG00000211878 OTTHUMG00000170956 uc058zha.1 M94081 NG_001332 8188290 TRAJ11 HGNC:12039 +HGNC:12040 TRAJ12 T cell receptor alpha joining 12 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28743 ENSG00000211877 OTTHUMG00000170955 uc058zgz.1 X02885 NG_001332 "8188290|2993909" TRAJ12 HGNC:12040 +HGNC:12041 TRAJ13 T cell receptor alpha joining 13 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28742 ENSG00000211876 OTTHUMG00000170954 uc058zgy.1 M94081 NG_001332 8188290 TRAJ13 HGNC:12041 +HGNC:12042 TRAJ14 T cell receptor alpha joining 14 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28741 ENSG00000211875 OTTHUMG00000170953 uc058zgx.1 M94081 NG_001332 8188290 TRAJ14 HGNC:12042 +HGNC:12043 TRAJ15 T cell receptor alpha joining 15 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28740 X05775 NG_001332 "3117531|8188290" TRAJ15 HGNC:12043 +HGNC:12044 TRAJ16 T cell receptor alpha joining 16 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28739 ENSG00000211873 OTTHUMG00000170951 uc058zgw.1 M94081 NG_001332 8188290 TRAJ16 HGNC:12044 +HGNC:12045 TRAJ17 T cell receptor alpha joining 17 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28738 ENSG00000211872 OTTHUMG00000170950 uc021rqm.2 X05773 NG_001332 8188290 TRAJ17 HGNC:12045 +HGNC:12046 TRAJ18 T cell receptor alpha joining 18 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28737 ENSG00000211871 OTTHUMG00000170949 uc058zgv.1 M94081 NG_001332 8188290 TRAJ18 HGNC:12046 +HGNC:12047 TRAJ19 T cell receptor alpha joining 19 (non-functional) other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28736 ENSG00000211870 OTTHUMG00000170948 uc058zgu.1 M94081 NG_001332 8188290 TRAJ19 HGNC:12047 +HGNC:12049 TRAJ20 T cell receptor alpha joining 20 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28735 ENSG00000211869 OTTHUMG00000170947 uc058zgt.1 M94081 NG_001332 8188290 TRAJ20 HGNC:12049 +HGNC:12050 TRAJ21 T cell receptor alpha joining 21 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28734 ENSG00000211868 OTTHUMG00000170946 uc058zgs.1 M94081 NG_001332 8188290 TRAJ21 HGNC:12050 +HGNC:12051 TRAJ22 T cell receptor alpha joining 22 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28733 ENSG00000211867 OTTHUMG00000170945 uc058zgr.1 X02886 NG_001332 "8188290|2993909" TRAJ22 HGNC:12051 +HGNC:12052 TRAJ23 T cell receptor alpha joining 23 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28732 ENSG00000211866 OTTHUMG00000170944 uc058zgq.1 M94081 NG_001332 8188290 TRAJ23 HGNC:12052 +HGNC:12053 TRAJ24 T cell receptor alpha joining 24 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28731 ENSG00000211865 OTTHUMG00000170943 uc021rqk.2 X02887 NG_001332 "2993909|8188290" TRAJ24 HGNC:12053 +HGNC:12054 TRAJ25 T cell receptor alpha joining 25 (non-functional) other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28730 ENSG00000211864 OTTHUMG00000170942 uc058zgp.1 X02888 NG_001332 "2993909|8188290" TRAJ25 HGNC:12054 +HGNC:12055 TRAJ26 T cell receptor alpha joining 26 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28729 ENSG00000211863 OTTHUMG00000170941 uc058zgo.1 M94081 NG_001332 8188290 TRAJ26 HGNC:12055 +HGNC:12056 TRAJ27 T cell receptor alpha joining 27 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28728 ENSG00000211862 OTTHUMG00000170940 uc058zgn.1 M94081 NG_001332 8188290 TRAJ27 HGNC:12056 +HGNC:12057 TRAJ28 T cell receptor alpha joining 28 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28727 ENSG00000211861 OTTHUMG00000170939 uc058zgm.1 M94081 NG_001332 8188290 TRAJ28 HGNC:12057 +HGNC:12058 TRAJ29 T cell receptor alpha joining 29 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28726 ENSG00000211860 OTTHUMG00000170938 uc058zgl.1 X02889 NG_001332 "2993909|8188290" TRAJ29 HGNC:12058 +HGNC:12060 TRAJ30 T cell receptor alpha joining 30 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28725 ENSG00000211859 OTTHUMG00000170937 uc058zgk.1 M94081 NG_001332 8188290 TRAJ30 HGNC:12060 +HGNC:12061 TRAJ31 T cell receptor alpha joining 31 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28724 ENSG00000211858 OTTHUMG00000170936 uc058zgj.1 M14905 NG_001332 A0A075B700 "3490692|8188290" TRAJ31 HGNC:12061 +HGNC:12062 TRAJ32 T cell receptor alpha joining 32 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28723 ENSG00000211857 OTTHUMG00000170935 uc058zgi.1 M94081 NG_001332 8188290 TRAJ32 HGNC:12062 +HGNC:12063 TRAJ33 T cell receptor alpha joining 33 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28722 ENSG00000211856 OTTHUMG00000170934 uc058zgh.1 M94081 NG_001332 8188290 TRAJ33 HGNC:12063 +HGNC:12064 TRAJ34 T cell receptor alpha joining 34 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28721 ENSG00000211855 OTTHUMG00000170933 uc058zgg.1 M35622 NG_001332 "2971534|8188290" TRAJ34 HGNC:12064 +HGNC:12065 TRAJ35 T cell receptor alpha joining 35 (non-functional) other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28720 ENSG00000211854 OTTHUMG00000170932 uc058zgf.1 M94081 NG_001332 8188290 TRAJ35 HGNC:12065 +HGNC:12066 TRAJ36 T cell receptor alpha joining 36 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28719 ENSG00000276699 OTTHUMG00000188544 uc058zge.1 M94081 NG_001332 8188290 TRAJ36 HGNC:12066 +HGNC:12067 TRAJ37 T cell receptor alpha joining 37 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28718 ENSG00000278661 OTTHUMG00000188542 uc032auq.2 M94081 NG_001332 8188290 TRAJ37 HGNC:12067 +HGNC:12068 TRAJ38 T cell receptor alpha joining 38 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28717 ENSG00000211851 OTTHUMG00000170929 uc058zgd.1 M94081 NG_001332 8188290 TRAJ38 HGNC:12068 +HGNC:12069 TRAJ39 T cell receptor alpha joining 39 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28716 ENSG00000211850 OTTHUMG00000170928 uc058zgc.1 M94081 NG_001332 8188290 TRAJ39 HGNC:12069 +HGNC:12071 TRAJ40 T cell receptor alpha joining 40 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28715 ENSG00000211849 OTTHUMG00000170927 uc058zgb.1 M35620 NG_001332 "2971534|8188290" TRAJ40 HGNC:12071 +HGNC:12072 TRAJ41 T cell receptor alpha joining 41 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28714 ENSG00000211848 OTTHUMG00000170926 uc058zga.1 M94081 NG_001332 8188290 TRAJ41 HGNC:12072 +HGNC:12073 TRAJ42 T cell receptor alpha joining 42 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28713 ENSG00000211847 OTTHUMG00000170925 uc021rpz.2 M94081 NG_001332 A0A075B6Y9 8188290 TRAJ42 HGNC:12073 +HGNC:12074 TRAJ43 T cell receptor alpha joining 43 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28712 ENSG00000211846 OTTHUMG00000170924 uc058zfz.1 M94081 NG_001332 8188290 TRAJ43 HGNC:12074 +HGNC:12075 TRAJ44 T cell receptor alpha joining 44 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28711 ENSG00000211845 OTTHUMG00000170923 uc058zfy.1 M35619 NG_001332 "2971534|8188290" TRAJ44 HGNC:12075 +HGNC:12076 TRAJ45 T cell receptor alpha joining 45 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28710 ENSG00000211844 OTTHUMG00000170922 uc058zfx.1 M94081 NG_001332 8188290 TRAJ45 HGNC:12076 +HGNC:12077 TRAJ46 T cell receptor alpha joining 46 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28709 ENSG00000211843 OTTHUMG00000170921 uc058zfw.1 M94081 NG_001332 8188290 TRAJ46 HGNC:12077 +HGNC:12078 TRAJ47 T cell receptor alpha joining 47 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28708 ENSG00000211842 OTTHUMG00000170920 uc058zfv.1 M94081 NG_001332 8188290 TRAJ47 HGNC:12078 +HGNC:12079 TRAJ48 T cell receptor alpha joining 48 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28707 ENSG00000211841 OTTHUMG00000170919 uc058zfu.1 M94081 NG_001332 8188290 TRAJ48 HGNC:12079 +HGNC:12080 TRAJ49 T cell receptor alpha joining 49 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28706 ENSG00000211840 OTTHUMG00000170918 uc058zft.1 M94081 NG_001332 8188290 TRAJ49 HGNC:12080 +HGNC:12082 TRAJ50 T cell receptor alpha joining 50 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28705 ENSG00000211839 OTTHUMG00000170917 uc058zfs.1 M94081 NG_001332 8188290 TRAJ50 HGNC:12082 +HGNC:12083 TRAJ51 T cell receptor alpha joining 51 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28704 ENSG00000248366 OTTHUMG00000170916 M94081 NG_001332 8188290 TRAJ51 HGNC:12083 +HGNC:12084 TRAJ52 T cell receptor alpha joining 52 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28703 ENSG00000211838 OTTHUMG00000170915 uc058zfr.1 M94081 NG_001332 8188290 TRAJ52 HGNC:12084 +HGNC:12085 TRAJ53 T cell receptor alpha joining 53 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28702 ENSG00000211837 OTTHUMG00000170914 uc058zfq.1 M94081 NG_001332 8188290 TRAJ53 HGNC:12085 +HGNC:12086 TRAJ54 T cell receptor alpha joining 54 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28701 ENSG00000211836 OTTHUMG00000170913 uc058zfp.1 M94081 NG_001332 8188290 TRAJ54 HGNC:12086 +HGNC:12087 TRAJ55 T cell receptor alpha joining 55 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28700 ENSG00000250688 OTTHUMG00000170912 M94081 NG_001332 8188290 TRAJ55 HGNC:12087 +HGNC:12088 TRAJ56 T cell receptor alpha joining 56 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28699 ENSG00000211835 OTTHUMG00000170911 uc058zfo.1 M94081 NG_001332 8188290 TRAJ56 HGNC:12088 +HGNC:12089 TRAJ57 T cell receptor alpha joining 57 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28698 ENSG00000211834 OTTHUMG00000170910 uc058zfn.1 M94081 NG_001332 8188290 TRAJ57 HGNC:12089 +HGNC:12090 TRAJ58 T cell receptor alpha joining 58 (non-functional) other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28697 ENSG00000211833 OTTHUMG00000170909 uc058zfm.1 M94081 NG_001332 8188290 TRAJ58 HGNC:12090 +HGNC:12091 TRAJ59 T cell receptor alpha joining 59 (non-functional) other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28696 ENSG00000211832 OTTHUMG00000170908 uc058zfl.1 M94081 NG_001332 8188290 TRAJ59 HGNC:12091 +HGNC:12093 TRAJ60 T cell receptor alpha joining 60 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28695 ENSG00000249446 OTTHUMG00000170907 M94081 NG_001332 8188290 TRAJ60 HGNC:12093 +HGNC:12094 TRAJ61 T cell receptor alpha joining 61 (non-functional) other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-08 2017-12-06 2017-12-06 28694 ENSG00000211831 OTTHUMG00000170906 uc058zfk.1 M94081 NG_001332 8188290 TRAJ61 HGNC:12094 +HGNC:29947 TRAK1 trafficking kinesin protein 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "OIP106|KIAA1042|MILT1" "OGT(O Glc NAc transferase) interacting protein 106 KDa|O-linked N-acetylglucosamine transferase interacting protein 106|milton homolog 1 (Drosophila)" trafficking protein, kinesin binding 1 2005-12-13 2016-05-16 2021-05-26 22906 ENSG00000182606 OTTHUMG00000131795 uc003cky.5 NM_014965 "CCDS58826|CCDS43072|CCDS74922|CCDS2695" Q9UPV9 "10470851|12435728|16380713|20230862" MGI:1914345 RGD:1307844 608112 HGNC:29947 "ENST00000327628.10|NM_001042646.3" HGNC:29947 +HGNC:13206 TRAK2 trafficking kinesin protein 2 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 "CALS-C|KIAA0549|GRIF-1|OIP98|MILT2" "gamma-aminobutyric acid(A) receptor-interacting factor|milton homolog 2 (Drosophila)|O-linked N-acetylglucosamine transferase interacting protein 98" ALS2CR3 "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3|trafficking protein, kinesin binding 2" 2001-02-13 2005-12-13 2016-05-16 2016-05-16 66008 ENSG00000115993 OTTHUMG00000132822 uc002uyb.5 AB038951 NM_015049 CCDS2347 O60296 "11161814|16380713|20230862" MGI:1918077 RGD:620915 607334 HGNC:13206 "ENST00000332624.8|NM_015049.3" +HGNC:20568 TRAM1 translocation associated membrane protein 1 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "TRAM|TRAMP" TLC domain containing 1374 2003-04-03 2016-10-05 23471 ENSG00000067167 OTTHUMG00000164428 uc003xyo.3 X63679 NM_014294 "CCDS6207|CCDS83300" Q15629 1315422 MGI:1919515 RGD:1359100 605190 HGNC:20568 "ENST00000262213.7|NM_014294.6" +HGNC:28371 TRAM1L1 translocation associated membrane protein 1 like 1 protein-coding gene gene with protein product Approved 4q26 04q26 MGC26568 TLC domain containing 1374 2004-02-06 2017-12-12 2017-12-12 133022 ENSG00000174599 OTTHUMG00000132956 uc003ibv.5 AK074617 NM_152402 CCDS3707 Q8N609 12477932 MGI:2443503 RGD:1306398 617505 HGNC:28371 "ENST00000310754.5|NM_152402.3" +HGNC:16855 TRAM2 translocation associated membrane protein 2 protein-coding gene gene with protein product Approved 6p12.2 06p12.2 KIAA0057 TLC domain containing 1374 2003-04-03 2016-10-05 9697 ENSG00000065308 OTTHUMG00000014850 uc003paq.4 D31762 NM_012288 CCDS34477 Q15035 "7584044|10594243" MGI:1924817 RGD:1589151 608485 HGNC:16855 "ENST00000182527.4|NM_012288.4" +HGNC:48663 TRAM2-AS1 TRAM2 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 6p12.2 06p12.2 Antisense RNAs 1987 2013-06-04 2013-06-04 2016-12-21 401264 ENSG00000225791 OTTHUMG00000014849 NR_103446 27980086 TRAM2-AS1 HGNC:48663 +HGNC:29011 TRANK1 tetratricopeptide repeat and ankyrin repeat containing 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "LBA1|KIAA0342" "lupus brain antigen 1|KIAA0342" "Ankyrin repeat domain containing|Tetratricopeptide repeat domain containing" "403|769" 2009-09-25 2016-04-25 9881 ENSG00000168016 OTTHUMG00000155848 uc003cgj.4 AK096678 NM_014831 "CCDS46789|CCDS87061" O15050 9205841 MGI:1341834 RGD:1563130 619316 HGNC:29011 "ENST00000645898.2|NM_001329998.2" +HGNC:16264 TRAP1 TNF receptor associated protein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HSP75|HSP90L" TNF receptor-associated protein 1 Heat shock 90kDa proteins 586 2004-07-02 2016-03-29 2016-03-29 10131 ENSG00000126602 OTTHUMG00000129427 uc002cvt.4 AF154108 NM_016292 "CCDS61824|CCDS10508" Q12931 "10652318|7876093" MGI:1915265 RGD:1359733 606219 objectId:2909 HGNC:16264 "ENST00000246957.10|NM_016292.3" +HGNC:19894 TRAPPC1 trafficking protein particle complex subunit 1 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MUM2|BET5" trafficking protein particle complex 1 Trafficking protein particle complex subunits 772 2003-08-29 2021-02-09 2021-02-09 58485 ENSG00000170043 OTTHUMG00000108171 uc021tpl.1 AF129332 NM_021210 CCDS11125 Q9Y5R8 10582700 MGI:1098727 RGD:1311365 610969 HGNC:19894 "ENST00000303731.9|NM_021210.5" +HGNC:23068 TRAPPC2 trafficking protein particle complex subunit 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "TRS20|SEDT|MIP-2A|ZNF547L|hYP38334" SEDL "spondyloepiphyseal dysplasia, late|trafficking protein particle complex 2" Trafficking protein particle complex subunits 772 2005-01-26 2021-02-09 2021-05-26 6399 ENSG00000196459 OTTHUMG00000021157 uc064yat.1 AF157061 NM_014563 "CCDS48082|CCDS48083" P0DI81 14597397 MGI:1913476 RGD:1306925 300202 120241 HGNC:23068 "ENST00000380579.6|NM_001011658.4" HGNC:23068 +HGNC:10710 TRAPPC2B trafficking protein particle complex subunit 2B protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "SEDLP1|MIP-2A" "SEDLP|TRAPPC2P1" "spondyloepiphyseal dysplasia, late, pseudogene|trafficking protein particle complex 2 pseudogene 1|trafficking protein particle complex 2B" 2000-01-20 2014-10-15 2021-02-09 2021-02-09 10597 ENSG00000256060 OTTHUMG00000183279 uc002qok.2 NM_001355204 CCDS86812 P0DI82 "11134351|24098805" HGNC:10710 "ENST00000543226.2|NM_001355204.2" +HGNC:30887 TRAPPC2L trafficking protein particle complex subunit 2L protein-coding gene gene with protein product Approved 16q24.3 16q24.3 HSPC176 "trafficking protein particle complex 2-like|trafficking protein particle complex 2 like" Trafficking protein particle complex subunits 772 2006-06-15 2021-02-09 2021-02-09 51693 ENSG00000167515 OTTHUMG00000137861 uc002fmg.4 BC011369 NM_016209 "CCDS82029|CCDS82027|CCDS82028|CCDS10971" Q9UL33 "11042152|21525244" MGI:1916295 RGD:1304906 610970 HGNC:30887 HGNC:30887 +HGNC:54982 TRAPPC2LP1 TRAPPC2L pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-14 2020-05-14 100421462 ENSG00000231053 NG_026716 +HGNC:10711 TRAPPC2P2 trafficking protein particle complex 2 pseudogene 2 pseudogene pseudogene Approved 8q13.3 08q13.3 SEDLP2 spondyloepiphyseal dysplasia, late, pseudogene 2 2000-01-20 2009-03-02 2009-03-02 2014-11-19 27196 ENSG00000253124 OTTHUMG00000164467 NG_005354 11031107 PGOHUM00000257191 HGNC:10711 +HGNC:10712 TRAPPC2P3 trafficking protein particle complex 2 pseudogene 3 pseudogene pseudogene Approved Yq11.222 Yq11.222 SEDLP3 spondyloepiphyseal dysplasia, late, pseudogene 3 2000-01-20 2009-03-02 2009-03-02 2014-11-19 27195 ENSG00000224964 OTTHUMG00000041665 AC007742 NG_004636.1 11031107 PGOHUM00000262152 HGNC:10712 +HGNC:10713 TRAPPC2P4 trafficking protein particle complex 2 pseudogene 4 pseudogene pseudogene Approved Yq11.23 Yq11.23 SEDLP4 spondyloepiphyseal dysplasia, late, pseudogene 4 2000-01-20 2009-03-02 2009-03-02 2014-11-19 27194 ENSG00000232914 OTTHUMG00000045261 AC007965 NG_004755.2 11031107 PGOHUM00000234092 HGNC:10713 +HGNC:10714 TRAPPC2P5 trafficking protein particle complex 2 pseudogene 5 pseudogene pseudogene Approved Yq11.23 Yq11.23 SEDLP5 spondyloepiphyseal dysplasia, late, pseudogene 5 2000-01-20 2009-03-02 2009-03-02 2014-11-18 27193 ENSG00000225256 OTTHUMG00000045291 AC010682 NG_004755.2 11031107 PGOHUM00000234087 HGNC:10714 +HGNC:10715 TRAPPC2P6 trafficking protein particle complex 2 pseudogene 6 pseudogene pseudogene Approved Yq11.23 Yq11.23 SEDLP6 spondyloepiphyseal dysplasia, late, pseudogene 6 2000-01-20 2009-03-02 2009-03-02 2009-03-02 27192 AC009235 11031107 +HGNC:10716 TRAPPC2P7 trafficking protein particle complex 2 pseudogene 7 pseudogene pseudogene Approved Yq11.222 Yq11.222 SEDLP7 spondyloepiphyseal dysplasia, late, pseudogene 7 2000-01-20 2009-03-02 2009-03-02 2016-10-05 392597 ENSG00000249606 OTTHUMG00000041987 AC007379 NG_004636.1 11031107 PGOHUM00000233777 HGNC:10716 +HGNC:37731 TRAPPC2P8 trafficking protein particle complex 2 pseudogene 8 pseudogene pseudogene Approved Yq11.222 Yq11.222 TRAPPC2P3B 2010-02-09 2010-02-09 2016-10-05 414751 ENSG00000225895 OTTHUMG00000041951 NG_004636 PGOHUM00000262159 HGNC:37731 +HGNC:37733 TRAPPC2P9 trafficking protein particle complex 2 pseudogene 9 pseudogene pseudogene Approved Yq11.223 Yq11.223 TRAPPC2P4B 2010-02-09 2010-02-09 2014-11-19 414753 ENSG00000232845 OTTHUMG00000044986 NG_004755 PGOHUM00000233830 HGNC:37733 +HGNC:37732 TRAPPC2P10 trafficking protein particle complex 2 pseudogene 10 pseudogene pseudogene Approved Yq11.23 Yq11.23 TRAPPC2P5B 2010-02-09 2010-02-09 2016-10-05 414752 ENSG00000228465 OTTHUMG00000044992 NG_004755 PGOHUM00000233835 HGNC:37732 +HGNC:19942 TRAPPC3 trafficking protein particle complex subunit 3 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 BET3 trafficking protein particle complex 3 Trafficking protein particle complex subunits 772 2003-08-29 2021-02-09 2021-02-09 27095 ENSG00000054116 OTTHUMG00000007664 uc001bzx.5 AF041432 NM_014408 "CCDS72758|CCDS72757|CCDS59194|CCDS404" O43617 8619474 MGI:1351486 RGD:1309135 610955 HGNC:19942 "ENST00000373166.8|NM_014408.5" +HGNC:21090 TRAPPC3L trafficking protein particle complex subunit 3L protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "bA259P20.2|FLJ11180" BET3L "BET3 like (S. cerevisiae)|trafficking protein particle complex 3-like|trafficking protein particle complex 3 like|trafficking protein particle complex subunit 3 like" Trafficking protein particle complex subunits 772 2003-11-26 2013-05-01 2021-02-09 2021-02-09 100128327 ENSG00000173626 OTTHUMG00000015440 AK002042 NM_001139444 CCDS47468 Q5T215 21525244 MGI:3642034 RGD:2318506 614137 HGNC:21090 "ENST00000368602.4|NM_001139444.3" +HGNC:19943 TRAPPC4 trafficking protein particle complex subunit 4 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TRS23|SBDN|PTD009" trafficking protein particle complex 4 "Trafficking protein particle complex subunits|MicroRNA protein coding host genes" "772|1691" 2003-08-29 2021-02-09 2021-05-26 51399 ENSG00000196655 OTTHUMG00000166351 uc010ryo.4 AF078862 NM_016146 "CCDS8407|CCDS81633|CCDS81632|CCDS81635|CCDS81634" Q9Y296 10810093 MGI:1926211 RGD:1302991 610971 HGNC:19943 "ENST00000533632.6|NM_016146.6" HGNC:19943 +HGNC:23067 TRAPPC5 trafficking protein particle complex subunit 5 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC52424|TRS31" trafficking protein particle complex 5 Trafficking protein particle complex subunits 772 2003-09-01 2021-02-09 2021-02-09 126003 ENSG00000181029 OTTHUMG00000182589 uc002mhi.2 BC042161 NM_174894 CCDS42490 Q8IUR0 MGI:1913932 RGD:1563971 HGNC:23067 "ENST00000596148.3|NM_001042462.2" +HGNC:23069 TRAPPC6A trafficking protein particle complex subunit 6A protein-coding gene gene with protein product Approved 19q13.32 19q13.32 "TRS33|MGC2650|HSPC289" trafficking protein particle complex 6A Trafficking protein particle complex subunits 772 2003-09-03 2021-02-09 2021-02-09 79090 ENSG00000007255 OTTHUMG00000181775 uc002paw.5 AF161407 NM_024108 "CCDS12655|CCDS59395|CCDS59396|CCDS59397" O75865 MGI:1914341 RGD:1591735 610396 HGNC:23069 "ENST00000585934.1|NM_001270891.2" HGNC:23069 +HGNC:23066 TRAPPC6B trafficking protein particle complex subunit 6B protein-coding gene gene with protein product Approved 14q21.1 14q21.1 trafficking protein particle complex 6B Trafficking protein particle complex subunits 772 2003-09-01 2021-02-09 2021-05-26 122553 ENSG00000182400 OTTHUMG00000140259 uc001wut.2 AK025437 NM_177452 "CCDS9670|CCDS41947" Q86SZ2 MGI:1925482 RGD:1309325 610397 HGNC:23066 "ENST00000330149.10|NM_001079537.2" HGNC:23066 +HGNC:29169 TRAPPC8 trafficking protein particle complex subunit 8 protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "HsT2706|TRS85|GSG1" general sporulation gene 1 homolog (S. cerevisiae) KIAA1012 "KIAA1012|trafficking protein particle complex 8" Trafficking protein particle complex subunits 772 2004-01-04 2010-06-29 2021-02-09 2021-02-09 22878 ENSG00000153339 OTTHUMG00000132267 uc002kxc.5 AB023229 NM_014939 CCDS11901 Q9Y2L5 "10231032|11230166" MGI:2443008 RGD:1309102 614136 HGNC:29169 "ENST00000283351.10|NM_014939.5" +HGNC:30832 TRAPPC9 trafficking protein particle complex subunit 9 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "IKBKBBP|NIBP|KIAA1882|T1|TRS120|MRT13" "TRAPP 120 kDa subunit|tularik gene 1" trafficking protein particle complex 9 Trafficking protein particle complex subunits 772 2008-05-07 2021-02-09 2021-05-26 83696 ENSG00000167632 OTTHUMG00000164187 uc003yvj.3 BC006206 NM_031466 CCDS55278 Q96Q05 11572484 MGI:1923760 RGD:1309461 LRG_1041|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1041.xml 611966 218049 HGNC:30832 "ENST00000438773.4|NM_001160372.4" HGNC:30832 +HGNC:11868 TRAPPC10 trafficking protein particle complex subunit 10 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "EHOC-1|TRS130" "trafficking protein particle complex subunit 130|TRAPP 130 kDa subunit" TMEM1 "transmembrane protein 1|trafficking protein particle complex 10" Trafficking protein particle complex subunits 772 1996-06-21 2008-05-07 2021-02-09 2021-02-09 7109 ENSG00000160218 OTTHUMG00000086894 uc002zea.4 U19252 NM_003274 CCDS13704 P48553 7633421 MGI:1336209 RGD:1311263 602103 HGNC:11868 "ENST00000291574.9|NM_003274.5" +HGNC:25751 TRAPPC11 trafficking protein particle complex subunit 11 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "FLJ12716|gry|foigr" "gryzun homolog (Drosophila)|foie gras homolog (zebrafish)" C4orf41 "chromosome 4 open reading frame 41|trafficking protein particle complex 11" Trafficking protein particle complex subunits 772 2007-12-13 2011-12-12 2021-02-09 2021-05-26 60684 ENSG00000168538 OTTHUMG00000160673 uc003ivx.4 NM_021942 "CCDS47166|CCDS34112" Q7Z392 "19942856|21525244" MGI:2444585 RGD:1309765 614138 376401 HGNC:25751 "ENST00000334690.11|NM_021942.6" HGNC:25751 +HGNC:24284 TRAPPC12 trafficking protein particle complex subunit 12 protein-coding gene gene with protein product Approved 2p25.3 02p25.3 "CGI-87|TTC-15" TTC15 "tetratricopeptide repeat domain 15|trafficking protein particle complex 12" "Tetratricopeptide repeat domain containing|Trafficking protein particle complex subunits" "769|772" 2003-12-22 2011-12-12 2021-02-09 2021-05-26 51112 ENSG00000171853 OTTHUMG00000090328 uc002qxn.2 BC017475 NM_016030 CCDS1652 Q8WVT3 "10810093|21525244|20562859" MGI:2445089 RGD:1566054 614139 HGNC:24284 "ENST00000324266.10|NM_016030.6" HGNC:24284 +HGNC:41046 TRAPPC12-AS1 TRAPPC12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2p25.3 02p25.3 TRAPPC12 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-12 2012-08-15 2014-11-19 100861515 ENSG00000225234 OTTHUMG00000151434 uc061gep.1 BG683264 NR_046720 TRAPPC12-AS1 +HGNC:25828 TRAPPC13 trafficking protein particle complex subunit 13 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "FLJ13611|MGC48585" Trs65-related C5orf44 "chromosome 5 open reading frame 44|trafficking protein particle complex 13" Trafficking protein particle complex subunits 772 2008-06-19 2013-01-24 2021-02-09 2021-02-09 80006 ENSG00000113597 OTTHUMG00000163649 uc003jua.5 NM_024941 "CCDS47223|CCDS47221|CCDS47222|CCDS58950" A5PLN9 23394947 MGI:1914225 RGD:1306583 HGNC:25828 "ENST00000399438.8|NM_024941.4" +HGNC:50347 TRAPPC13P1 trafficking protein particle complex 13 pseudogene 1 pseudogene pseudogene Approved Xq13.3 Xq13.3 2014-04-15 2014-04-15 646193 ENSG00000235447 OTTHUMG00000021880 NG_022906 PGOHUM00000241406 HGNC:50347 +HGNC:25604 TRAPPC14 trafficking protein particle complex subunit 14 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ10925 "C7orf43|MAP11" "chromosome 7 open reading frame 43|microtubule associated protein 11|trafficking protein particle complex 14" "Trafficking protein particle complex subunits|MicroRNA protein coding host genes" "772|1691" 2006-08-08 2020-09-16 2021-02-09 2021-02-09 55262 ENSG00000146826 OTTHUMG00000154862 uc003utr.4 NM_018275 "CCDS78261|CCDS5687" Q8WVR3 "30715179|31467083" MGI:2385896 RGD:1305455 618350 HGNC:25604 "ENST00000316937.8|NM_018275.5" HGNC:25604 +HGNC:29592 TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "LOST1|IFITMD3|BEC-1|DSPB1" "located at seventeen p thirteen point three 1|interferon induced transmembrane protein domain containing 3|dispanin subfamily B member 1|brain endothelial cell derived gene-1" TUSC5 tumor suppressor candidate 5 interferon induced transmembrane protein domain containing 1600 2004-05-24 2018-03-22 2018-03-22 2020-03-24 286753 ENSG00000184811 OTTHUMG00000132196 uc002fsi.1 AB090231 NM_172367 CCDS42225 Q8IXB3 "12660825|26629404|29787242" MGI:3029307 RGD:1307639 612211 HGNC:29592 "ENST00000333813.4|NM_172367.3" +HGNC:30698 TRAT1 T cell receptor associated transmembrane adaptor 1 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 "HSPC062|TRIM" TCRIM TCRIM 2004-11-03 2005-05-04 2017-12-06 2017-12-06 50852 ENSG00000163519 OTTHUMG00000159198 uc003dxi.2 AJ240084 NM_016388 "CCDS33813|CCDS82814" Q6PIZ9 "10663578|9687533" MGI:1924897 RGD:1563011 604962 HGNC:30698 "ENST00000295756.11|NM_016388.4" +HGNC:12101 TRAV1-1 T cell receptor alpha variable 1-1 other T cell receptor gene Approved 14q11.2 14q11.2 "TRAV11|TCRAV1S1|TCRAV7S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28693 ENSG00000255569 OTTHUMG00000168977 uc058zdj.1 AE000658 NG_001332 A0A0B4J248 8188290 TRAV1-1 HGNC:12101 +HGNC:12102 TRAV1-2 T cell receptor alpha variable 1-2 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28692 ENSG00000256553 OTTHUMG00000168978 uc058zdk.1 AE000658 NG_001332 A0A0B4J238 8188290 TRAV1-2 HGNC:12102 +HGNC:12116 TRAV2 T cell receptor alpha variable 2 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28691 ENSG00000211776 OTTHUMG00000168980 uc021roz.2 AE000658 NG_001332 A0A0B4J234 8188290 RGD:6495277 TRAV2 HGNC:12116 +HGNC:12128 TRAV3 T cell receptor alpha variable 3 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha variable 3 (gene/pseudogene) T cell receptor alpha locus at 14q11.2 371 2000-05-15 2020-05-01 2020-05-01 28690 ENSG00000211777 OTTHUMG00000168981 uc001wbn.5 AE000658 NG_001332 A0A0B4J244 8188290 TRAV3 HGNC:12128 +HGNC:12140 TRAV4 T cell receptor alpha variable 4 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV20S1|TCRAV4S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28689 ENSG00000211778 OTTHUMG00000168982 uc001wbp.4 AE000658 NG_001332 A0A0B4J268 8188290 MGI:3642679 TRAV4 HGNC:12140 +HGNC:12143 TRAV5 T cell receptor alpha variable 5 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28688 ENSG00000211779 OTTHUMG00000168983 uc058zdm.1 AE000659 NG_001332 A0A0B4J249 8188290 MGI:3644489 TRAV5 HGNC:12143 +HGNC:12144 TRAV6 T cell receptor alpha variable 6 other T cell receptor gene Approved 14q11.2 14q11.2 TCRAV5S1 TCRAV5S1 T cell receptor alpha locus at 14q11.2 371 1995-02-07 2017-12-06 2017-12-06 6956 ENSG00000211780 OTTHUMG00000168984 uc001wbt.2 Z49060 NG_001332 A0A075B6T7 "8188290|8530018" TRAV6 HGNC:12144 +HGNC:12145 TRAV7 T cell receptor alpha variable 7 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28686 ENSG00000211781 OTTHUMG00000168985 uc058zdo.1 AE000659 NG_001332 A0A075B6U4 8188290 TRAV7 HGNC:12145 +HGNC:12146 TRAV8-1 T cell receptor alpha variable 8-1 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28685 ENSG00000211782 OTTHUMG00000168986 uc058zdp.1 AE000659 NG_001332 A0A0A6YYK1 8188290 TRAV8-1 HGNC:12146 +HGNC:12147 TRAV8-2 T cell receptor alpha variable 8-2 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28684 ENSG00000211786 OTTHUMG00000168991 uc001wbz.2 AE000659 NG_001332 A0A0B4J237 8188290 TRAV8-2 HGNC:12147 +HGNC:12148 TRAV8-3 T cell receptor alpha variable 8-3 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28683 ENSG00000211787 OTTHUMG00000168992 uc021rpf.2 AE000659 NG_001332 A0A0A6YYJ7 "8188290|2971534" MGI:4889087 RGD:2321267 TRAV8-3 HGNC:12148 +HGNC:12149 TRAV8-4 T cell receptor alpha variable 8-4 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28682 ENSG00000211790 OTTHUMG00000168995 uc058zdu.1 AE000659 NG_001332 P01737 8188290 TRAV8-4 HGNC:12149 +HGNC:12150 TRAV8-5 T cell receptor alpha variable 8-5 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 "TRAV85|TCRAV8S5" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28681 ENSG00000256379 OTTHUMG00000168996 AE000659 NG_001332 8188290 PGOHUM00000248069 TRAV8-5 HGNC:12150 +HGNC:12151 TRAV8-6 T cell receptor alpha variable 8-6 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28680 ENSG00000211795 OTTHUMG00000170641 uc058zdx.1 X02850 NG_001332 A0A0B4J262 "8206523|2993909" TRAV8-6 HGNC:12151 +HGNC:12152 TRAV8-7 T cell receptor alpha variable 8-7 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 T cell receptor alpha variable 8-7 (non-functional) T cell receptor alpha locus at 14q11.2 371 2000-05-15 2020-06-03 2020-06-03 28679 ENSG00000211808 OTTHUMG00000170655 uc010tmq.4 AE000660 NG_001332 8188290 TRAV8-7 HGNC:12152 +HGNC:12153 TRAV9-1 T cell receptor alpha variable 9-1 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28678 ENSG00000211783 OTTHUMG00000168987 uc001wbv.4 AE000659 NG_001332 A0A075B6T8 8188290 TRAV9-1 HGNC:12153 +HGNC:12154 TRAV9-2 T cell receptor alpha variable 9-2 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28677 ENSG00000211793 OTTHUMG00000170637 uc032atm.2 AE000659 NG_001332 A0A087WT02 8188290 "MGI:2685547|MGI:3642602|MGI:3649610" RGD:6489577 TRAV9-2 HGNC:12154 +HGNC:12103 TRAV10 T cell receptor alpha variable 10 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV10S1|TCRAV24S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28676 ENSG00000211784 OTTHUMG00000168988 uc058zdq.1 AE000659 NG_001332 A0A0B4J240 8188290 TRAV10 HGNC:12103 +HGNC:12104 TRAV11 T cell receptor alpha variable 11 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28675 ENSG00000256474 OTTHUMG00000168989 AE000659 NG_001332 8188290 TRAV11 HGNC:12104 +HGNC:12105 TRAV12-1 T cell receptor alpha variable 12-1 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28674 ENSG00000211785 OTTHUMG00000168990 uc058zdr.1 AE000659 NG_001332 A0A0B4J245 8188290 MGI:3649861 TRAV12-1 HGNC:12105 +HGNC:12106 TRAV12-2 T cell receptor alpha variable 12-2 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28673 ENSG00000211789 OTTHUMG00000168994 uc058zdt.1 AE000659 NG_001332 A0A075B6T6 8188290 MGI:3649861 TRAV12-2 HGNC:12106 +HGNC:12107 TRAV12-3 T cell receptor alpha variable 12-3 other T cell receptor gene Approved 14q11.2 14q11.2 "TRAV123|TCRAV2S2|TCRAV12S3" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28672 ENSG00000211794 OTTHUMG00000170640 uc058zdw.1 X06193 NG_001332 A0A0B4J271 "3501368|8951372" MGI:3649861 RGD:1564212 TRAV12-3 HGNC:12107 +HGNC:12108 TRAV13-1 T cell receptor alpha variable 13-1 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28671 ENSG00000211788 OTTHUMG00000168993 uc058zds.1 AE000659 NG_001332 A0A0B4J241 8188290 TRAV13-1 HGNC:12108 +HGNC:12109 TRAV13-2 T cell receptor alpha variable 13-2 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28670 ENSG00000211791 OTTHUMG00000168997 uc058zdv.1 AE000659 NG_001332 A0A0B4J235 8188290 RGD:2322894 TRAV13-2 HGNC:12109 +HGNC:12110 TRAV14DV4 T cell receptor alpha variable 14/delta variable 4 other T cell receptor gene Approved 14q11.2 14q11.2 "TRAV14/DV4|TCRAV6S1-hDV104S1|hADV14S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28669 ENSG00000211792 OTTHUMG00000168998 uc032atk.2 M21626 NG_001332 A0A0A6YYC5 2456576 TRAV14/DV4 HGNC:12110 +HGNC:12111 TRAV15 T cell receptor alpha variable 15 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 TCRAV15S1 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28668 ENSG00000258482 OTTHUMG00000170638 AE000659 NG_001332 8188290 TRAV15 HGNC:12111 +HGNC:12112 TRAV16 T cell receptor alpha variable 16 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV16S1|TCRAV9S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28667 ENSG00000211796 OTTHUMG00000170642 uc058zdy.1 AE000659 NG_001332 A0A0A6YYK6 8188290 TRAV16 HGNC:12112 +HGNC:12113 TRAV17 T cell receptor alpha variable 17 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV17S1|TCRAV3S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28666 ENSG00000211797 OTTHUMG00000170643 uc058zdz.1 AE000660 NG_001332 A0A0B4J275 "8188290|8662074" MGI:3650121 TRAV17 HGNC:12113 +HGNC:12114 TRAV18 T cell receptor alpha variable 18 other T cell receptor gene Approved 14q11.2 14q11.2 TCRAV18S1 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28665 ENSG00000211798 OTTHUMG00000170644 uc058zea.1 AE000660 NG_001332 A0A075B6X5 8188290 MGI:5293447 TRAV18 HGNC:12114 +HGNC:12115 TRAV19 T cell receptor alpha variable 19 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV12S1|TCRAV19S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28664 ENSG00000211799 OTTHUMG00000170645 uc058zeb.1 AE000660 NG_001332 A0A0A6YYK7 8188290 TRAV19 HGNC:12115 +HGNC:12117 TRAV20 T cell receptor alpha variable 20 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28663 ENSG00000211800 OTTHUMG00000170647 uc021rpo.3 AE000660 NG_001332 A0A0B4J274 8188290 TRAV20 HGNC:12117 +HGNC:12118 TRAV21 T cell receptor alpha variable 21 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28662 ENSG00000211801 OTTHUMG00000170648 uc058zec.1 AE000660 NG_001332 A0A0B4J279 8188290 TRAV21 HGNC:12118 +HGNC:12119 TRAV22 T cell receptor alpha variable 22 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV13S1|TCRAV22S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28661 ENSG00000211802 OTTHUMG00000170649 uc001wcy.4 AE000660 NG_001332 A0A0B4J277 8188290 RGD:2323659 TRAV22 HGNC:12119 +HGNC:12120 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 other T cell receptor gene Approved 14q11.2 14q11.2 "TRAV23/DV6|TCRAV17S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28660 ENSG00000211803 OTTHUMG00000170650 uc058zed.1 AE000660 NG_001332 A0A075B6W5 8188290 TRAV23/DV6 HGNC:12120 +HGNC:12121 TRAV24 T cell receptor alpha variable 24 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28659 ENSG00000211805 OTTHUMG00000170652 uc058zeg.1 AE000660 NG_001332 A0A0B4J272 "12594262|8188290" TRAV24 HGNC:12121 +HGNC:12122 TRAV25 T cell receptor alpha variable 25 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV25S1|TCRAV32S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28658 ENSG00000211806 OTTHUMG00000170653 uc010ajh.2 AE000660 NG_001332 A0A0B4J276 8188290 TRAV25 HGNC:12122 +HGNC:12123 TRAV26-1 T cell receptor alpha variable 26-1 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28657 ENSG00000211807 OTTHUMG00000170654 uc058zeh.1 AE000660 NG_001332 A0A087WT03 8188290 TRAV26-1 HGNC:12123 +HGNC:12124 TRAV26-2 T cell receptor alpha variable 26-2 other T cell receptor gene Approved 14q11.2 14q11.2 "TRAV262|TCRAV4S1|TCRAV26S2" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28656 ENSG00000211812 OTTHUMG00000170663 uc058zem.1 AE000660 NG_001332 A0A0B4J265 8188290 TRAV26-2 HGNC:12124 +HGNC:12125 TRAV27 T cell receptor alpha variable 27 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28655 ENSG00000211809 OTTHUMG00000170656 uc058zej.1 AE000660 NG_001332 A0A087WT01 8188290 TRAV27 HGNC:12125 +HGNC:12126 TRAV28 T cell receptor alpha variable 28 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28654 ENSG00000258835 OTTHUMG00000170657 AE000660 NG_001332 8188290 TRAV28 HGNC:12126 +HGNC:12127 TRAV29DV5 T cell receptor alpha variable 29/delta variable 5 other T cell receptor gene Approved 14q11.2 14q11.2 TRAV29/DV5 T cell receptor alpha variable 29/delta variable 5 (gene/pseudogene) T cell receptor alpha locus at 14q11.2 371 2000-05-15 2020-05-01 2020-05-01 28653 ENSG00000211810 OTTHUMG00000170658 uc058zek.1 AE000660 NG_001332 P04437 8188290 TRAV29/DV5 HGNC:12127 +HGNC:12129 TRAV30 T cell receptor alpha variable 30 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28652 ENSG00000259092 OTTHUMG00000170659 uc058zel.1 AE000660 NG_001332 A0A087WSZ9 8188290 TRAV30 HGNC:12129 +HGNC:12130 TRAV31 T cell receptor alpha variable 31 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 TCRAV31S1 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28651 ENSG00000249048 OTTHUMG00000170660 AE000660 NG_001332 8188290 TRAV31 HGNC:12130 +HGNC:12131 TRAV32 T cell receptor alpha variable 32 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28650 ENSG00000258905 OTTHUMG00000170661 AE000660 NG_001332 8188290 PGOHUM00000248097 TRAV32 HGNC:12131 +HGNC:12132 TRAV33 T cell receptor alpha variable 33 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 C14orf12 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28649 ENSG00000258812 OTTHUMG00000170662 AE000660 NG_001332 8188290 TRAV33 HGNC:12132 +HGNC:12133 TRAV34 T cell receptor alpha variable 34 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV26S1|TCRAV34S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28648 ENSG00000211813 OTTHUMG00000170664 uc058zen.1 AE000660 NG_001332 A0A0B4J273 8188290 TRAV34 HGNC:12133 +HGNC:12134 TRAV35 T cell receptor alpha variable 35 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV25S1|TCRAV35S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28647 ENSG00000211814 OTTHUMG00000170665 AE000660 NG_001332 P0DPF4 8188290 TRAV35 HGNC:12134 +HGNC:12135 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 other T cell receptor gene Approved 14q11.2 14q11.2 TRAV36/DV7 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28646 ENSG00000211815 OTTHUMG00000170666 uc058zeo.1 AE000660 NG_001332 A0A075B6V5 8188290 TRAV36/DV7 HGNC:12135 +HGNC:12136 TRAV37 T cell receptor alpha variable 37 (pseudogene) pseudogene T cell receptor pseudogene Approved 14q11.2 14q11.2 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28645 ENSG00000259068 OTTHUMG00000170836 AE000661 NG_001332 8188290 PGOHUM00000248102 TRAV37 HGNC:12136 +HGNC:12137 TRAV38-1 T cell receptor alpha variable 38-1 other T cell receptor gene Approved 14q11.2 14q11.2 "TRAV381|TCRAV14S2|TCRAV38S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28644 ENSG00000211816 OTTHUMG00000170837 uc021rpx.2 AE000661 NG_001332 A0A0B4J264 8188290 TRAV38-1 HGNC:12137 +HGNC:12138 TRAV38-2DV8 T cell receptor alpha variable 38-2/delta variable 8 other T cell receptor gene Approved 14q11.2 14q11.2 "TRAV38-2/DV8|TRAV382DV8|TCRAV14S1|hADV38S2" T cell receptor alpha/delta variable 38-2/DV8 T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28643 ENSG00000211817 OTTHUMG00000170838 uc032aua.2 AE000661 NG_001332 A0JD32 8188290 TRAV38-2/DV8 HGNC:12138 +HGNC:12139 TRAV39 T cell receptor alpha variable 39 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV27S1|TCRAV39S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28642 ENSG00000211818 OTTHUMG00000170839 uc058zer.1 AE000661 NG_001332 A0A0B4J263 8188290 TRAV39 HGNC:12139 +HGNC:12141 TRAV40 T cell receptor alpha variable 40 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV31S1|TCRAV40S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28641 ENSG00000211819 OTTHUMG00000170840 uc058zes.1 X73521 NG_001332 A0A0B4J280 8412327 TRAV40 HGNC:12141 +HGNC:12142 TRAV41 T cell receptor alpha variable 41 other T cell receptor gene Approved 14q11.2 14q11.2 "TCRAV19S1|TCRAV41S1" T cell receptor alpha locus at 14q11.2 371 2000-05-15 2017-12-06 2017-12-06 28640 ENSG00000211820 OTTHUMG00000170841 uc058zet.1 AE000661 NG_001332 A0A0B4J266 8188290 TRAV41 HGNC:12142 +HGNC:12155 TRB T cell receptor beta locus protein-coding gene gene with protein product Approved 7q34 07q34 T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster "TCRB|TRB@" TCRB, TRB@ T cell receptor beta locus at 7q34 372 1986-01-01 2013-03-05 2017-12-06 2017-12-06 6957 U66059 NG_001333 "P0DSE2|P0DTU4" 3983641 330810 HGNC:12155 +HGNC:12156 TRBC1 T cell receptor beta constant 1 other T cell receptor gene Approved 7q34 07q34 "TCRBC1|BV05S1J2.2" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28639 ENSG00000211751 OTTHUMG00000190609 uc064ita.1 M12887 NG_001333 P01850 3860845 186930 TRBC1 HGNC:12156 +HGNC:12157 TRBC2 T cell receptor beta constant 2 other T cell receptor gene Approved 7q34 07q34 TCRBC2 T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28638 ENSG00000211772 OTTHUMG00000158912 uc064itq.1 M12888 NG_001333 A0A5B9 "3860845|8951372" 615445 TRBC2 HGNC:12157 +HGNC:12158 TRBD1 T cell receptor beta diversity 1 other T cell receptor gene Approved 7q34 07q34 TCRBD1 T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28637 ENSG00000282431 OTTHUMG00000190602 uc284qei.1 X00936 NG_001333 P0DPI4 8650574 615447 TRBD1 HGNC:12158 +HGNC:12159 TRBD2 T cell receptor beta diversity 2 other T cell receptor gene Approved 7q34 07q34 TCRBD2 T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28636 X02987 NG_001333 8650574 615448 TRBD2 HGNC:12159 +HGNC:12162 TRBJ1-1 T cell receptor beta joining 1-1 other T cell receptor gene Approved 7q34 07q34 "TRBJ11|TCRBJ1S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28635 ENSG00000282320 OTTHUMG00000190603 uc284qej.1 X00936 NG_001333 A0A0J9YXA8 8650574 TRBJ1-1 HGNC:12162 +HGNC:12163 TRBJ1-2 T cell receptor beta joining 1-2 other T cell receptor gene Approved 7q34 07q34 "TRBJ12|TCRBJ1S2" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28634 ENSG00000282420 OTTHUMG00000190604 uc284qek.1 X00936 NG_001333 A0A0J9YX06 8650574 TRBJ1-2 HGNC:12163 +HGNC:12164 TRBJ1-3 T cell receptor beta joining 1-3 other T cell receptor gene Approved 7q34 07q34 "TRBJ13|TCRBJ1S3" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28633 ENSG00000282133 OTTHUMG00000190605 uc284qbl.1 M14158 NG_001333 A0A0J9YWP8 8650574 TRBJ1-3 HGNC:12164 +HGNC:12165 TRBJ1-4 T cell receptor beta joining 1-4 other T cell receptor gene Approved 7q34 07q34 "TRBJ14|TCRBJ1S4" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28632 ENSG00000281958 OTTHUMG00000190606 uc284qbm.1 M14158 NG_001333 A0A0J9YXG5 8650574 TRBJ1-4 HGNC:12165 +HGNC:12166 TRBJ1-5 T cell receptor beta joining 1-5 other T cell receptor gene Approved 7q34 07q34 "TRBJ15|TCRBJ1S5" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28631 ENSG00000282173 OTTHUMG00000190607 uc284qbn.1 M14158 NG_001333 A0A0J9YXM7 8650574 TRBJ1-5 HGNC:12166 +HGNC:12167 TRBJ1-6 T cell receptor beta joining 1-6 other T cell receptor gene Approved 7q34 07q34 "TRBJ16|TCRBJ1S6" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28630 ENSG00000282780 OTTHUMG00000190608 uc284qeo.1 M14158 NG_001333 A0A0J9YWX3 8650574 TRBJ1-6 HGNC:12167 +HGNC:12168 TRBJ2-1 T cell receptor beta joining 2-1 other T cell receptor gene Approved 7q34 07q34 "TRBJ21|TCRBJ2S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28629 ENSG00000211764 OTTHUMG00000158918 uc064iti.1 X02987 NG_001333 A0A0A0MTA7 8650574 TRBJ2-1 HGNC:12168 +HGNC:12169 TRBJ2-2 T cell receptor beta joining 2-2 other T cell receptor gene Approved 7q34 07q34 "TRBJ22|TCRBJ2S2" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28628 ENSG00000211765 OTTHUMG00000158870 uc064itj.1 X02987 NG_001333 A0A0A0MT94 8650574 TRBJ2-2 HGNC:12169 +HGNC:12170 TRBJ2-2P T cell receptor beta joining 2-2P (non-functional) other T cell receptor gene Approved 7q34 07q34 TRBJ22P T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28627 ENSG00000211766 OTTHUMG00000158876 uc064itk.1 X02987 NG_001333 8650574 TRBJ2-2P HGNC:12170 +HGNC:12171 TRBJ2-3 T cell receptor beta joining 2-3 other T cell receptor gene Approved 7q34 07q34 "TRBJ23|TCRBJ2S3" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28626 ENSG00000211767 OTTHUMG00000158896 uc064itl.1 X02987 NG_001333 A0A0B4J200 8650574 TRBJ2-3 HGNC:12171 +HGNC:12172 TRBJ2-4 T cell receptor beta joining 2-4 other T cell receptor gene Approved 7q34 07q34 "TRBJ24|TCRBJ2S4" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28625 ENSG00000211768 OTTHUMG00000158888 uc064itm.1 X02987 NG_001333 A0A0A0MT87 8650574 TRBJ2-4 HGNC:12172 +HGNC:12173 TRBJ2-5 T cell receptor beta joining 2-5 other T cell receptor gene Approved 7q34 07q34 "TRBJ25|TCRBJ2S5" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28624 ENSG00000211769 OTTHUMG00000158874 uc064itn.1 X02987 NG_001333 A0A0A0MTA4 8650574 TRBJ2-5 HGNC:12173 +HGNC:12174 TRBJ2-6 T cell receptor beta joining 2-6 other T cell receptor gene Approved 7q34 07q34 "TRBJ26|TCRBJ2S6" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28623 ENSG00000211770 OTTHUMG00000158913 uc064ito.1 X02987 NG_001333 A0A0A0MT70 8650574 TRBJ2-6 HGNC:12174 +HGNC:12175 TRBJ2-7 T cell receptor beta joining 2-7 other T cell receptor gene Approved 7q34 07q34 "TRBJ27|TCRBJ2S7" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28622 ENSG00000211771 OTTHUMG00000158906 uc064itp.1 M14159 NG_001333 A0A0A0MT78 8650574 TRBJ2-7 HGNC:12175 +HGNC:12176 TRBV1 T cell receptor beta variable 1 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 "TCRBV27S1P|TCRBV1S1P" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28621 ENSG00000242736 OTTHUMG00000158515 L36092 NG_001333 8650574 PGOHUM00000233603 TRBV1 HGNC:12176 +HGNC:12195 TRBV2 T cell receptor beta variable 2 other T cell receptor gene Approved 7q34 07q34 "TCRBV22S1A2N1T|TCRBV2S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28620 ENSG00000226660 OTTHUMG00000158532 uc033ajr.2 L36092 NG_001333 A0A1B0GX68 8650574 TRBV2 HGNC:12195 +HGNC:12212 TRBV3-1 T cell receptor beta variable 3-1 other T cell receptor gene Approved 7q34 07q34 "TRBV31|TCRBV3S1|TCRBV9S1A1T" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28619 ENSG00000237702 OTTHUMG00000158526 uc022amz.3 U07977 NG_001333 A0A576 8650574 TRBV3-1 HGNC:12212 +HGNC:12213 TRBV3-2 T cell receptor beta variable 3-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 alternate reference locus 07q34 alternate reference locus "TRBV32|TCRBV3S2|TCRBV9S2A2PT" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28618 "L36092|KI270803" NG_001333 8650574 TRBV3-2 +HGNC:12215 TRBV4-1 T cell receptor beta variable 4-1 other T cell receptor gene Approved 7q34 07q34 "TRBV41|TCRBV4S1|TCRBV7S1A1N2T|BV07S1J2.7" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28617 ENSG00000211710 OTTHUMG00000158522 uc003vxg.5 U07977 NG_001333 A0A577 8650574 MGI:98583 TRBV4-1 HGNC:12215 +HGNC:12216 TRBV4-2 T cell receptor beta variable 4-2 other T cell receptor gene Approved 7q34 07q34 "TRBV42|TCRBV4S2|TCRBV7S3A2T" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28616 ENSG00000211745 OTTHUMG00000158525 uc003vxp.6 U07975 NG_001333 A0A539 8650574 MGI:98583 TRBV4-2 HGNC:12216 +HGNC:12217 TRBV4-3 T cell receptor beta variable 4-3 other T cell receptor gene Approved 7q34 alternate reference locus 07q34 alternate reference locus "TRBV43|TCRBV4S3|TCRBV7S2A1N4T" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28615 uc284qcg.1 "U07978|KI270803" NG_001333 A0A589 "8650574|7931073" MGI:98583 TRBV4-3 +HGNC:12218 TRBV5-1 T cell receptor beta variable 5-1 other T cell receptor gene Approved 7q34 07q34 "TRBV51|TCRBV5S1|TCRBV5S1A1T" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28614 ENSG00000211734 OTTHUMG00000158520 uc033ajs.2 L36092 NG_001333 A0A578 8650574 TRBV5-1 HGNC:12218 +HGNC:12219 TRBV5-2 T cell receptor beta variable 5-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 "TRBV52|TCRBV31S1|TCRBV5S2P" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28613 ENSG00000242771 OTTHUMG00000158537 L36092 NG_001333 8650574 PGOHUM00000233044 TRBV5-2 HGNC:12219 +HGNC:12220 TRBV5-3 T cell receptor beta variable 5-3 (non-functional) other T cell receptor gene Approved 7q34 07q34 "TRBV53|TCRBV5S3|TCRBV5S5P" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28612 ENSG00000211715 OTTHUMG00000158510 uc033akp.2 X61439 NG_001333 A0A0A0MS03 8650574 TRBV5-3 HGNC:12220 +HGNC:12221 TRBV5-4 T cell receptor beta variable 5-4 other T cell receptor gene Approved 7q34 07q34 "TRBV54|TCRBV5S4|TCRBV5S6A3N2T" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28611 ENSG00000230099 OTTHUMG00000158524 uc033alh.2 L36092 NG_001333 A0A0C4DH59 8650574 TRBV5-4 HGNC:12221 +HGNC:12222 TRBV5-5 T cell receptor beta variable 5-5 other T cell receptor gene Approved 7q34 07q34 "TRBV55|TCRBV5S3A2T|TCRBV5S5" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28610 ENSG00000211725 OTTHUMG00000158512 uc033aln.2 L36092 NG_001333 A0A597 8650574 TRBV5-5 HGNC:12222 +HGNC:12223 TRBV5-6 T cell receptor beta variable 5-6 other T cell receptor gene Approved 7q34 07q34 "TRBV56|TCRBV5S2|TCRBV5S6" T-cell receptor beta chain V region CTL-L17 -like T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28609 ENSG00000211728 OTTHUMG00000158873 uc033als.2 L36092 NG_001333 A0A599 8650574 TRBV5-6 HGNC:12223 +HGNC:12224 TRBV5-7 T cell receptor beta variable 5-7 (non-functional) other T cell receptor gene Approved 7q34 07q34 "TRBV57|TCRBV5S7|TCRBV5S7P" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28608 ENSG00000211731 OTTHUMG00000158897 uc064ism.1 L36092 NG_001333 A0A0A0MS05 8650574 TRBV5-7 HGNC:12224 +HGNC:12225 TRBV5-8 T cell receptor beta variable 5-8 other T cell receptor gene Approved 7q34 alternate reference locus 07q34 alternate reference locus "TRBV58|TCRBV5S4A2T|TCRBV5S8" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28607 uc284qde.1 L36092 NG_001333 A0A5A2 8650574 TRBV5-8 +HGNC:12226 TRBV6-1 T cell receptor beta variable 6-1 other T cell receptor gene Approved 7q34 07q34 "TRBV61|TCRBV13S3|TCRBV6S1" T-cell receptor beta chain V region C5 -like T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28606 ENSG00000211706 OTTHUMG00000158531 uc033ajw.2 X61446 NG_001333 A0A0K0K1D8 8650574 TRBV6-1 HGNC:12226 +HGNC:12227 TRBV6-2 T cell receptor beta variable 6-2 other T cell receptor gene Approved 7q34 07q34 "TRBV62|TCRBV13S2A1T|TCRBV6S2" T cell receptor beta variable 6-2 (gene/pseudogene) T cell receptor beta locus at 7q34 372 2000-05-15 2020-05-01 2020-05-01 28605 ENSG00000283063 OTTHUMG00000191598 uc284qcf.1 X61445 NG_001333 A0A0J9YXY3 8650574 TRBV6-2 HGNC:12227 +HGNC:12228 TRBV6-3 T cell receptor beta variable 6-3 other T cell receptor gene Approved 7q34 alternate reference locus 07q34 alternate reference locus "TRBV63|TCRBV13S9/13S2A1T|TCRBV6S3" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28604 uc284qch.1 "U07978|KI270803" NG_001333 P0DPF7 8650574 TRBV6-3 HGNC:12228 +HGNC:12229 TRBV6-4 T cell receptor beta variable 6-4 other T cell receptor gene Approved 7q34 07q34 "TRBV64|TCRBV13S5|TCRBV6S4" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28603 ENSG00000211713 OTTHUMG00000158533 uc033akl.2 X61653 NG_001333 A0A1B0GX49 8650574 TRBV6-4 HGNC:12229 +HGNC:12230 TRBV6-5 T cell receptor beta variable 6-5 other T cell receptor gene Approved 7q34 07q34 "TRBV65|TCRBV13S1|TCRBV6S5" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28602 ENSG00000211721 OTTHUMG00000158519 uc064isk.1 L36092 NG_001333 A0A0K0K1A5 8650574 TRBV6-5 HGNC:12230 +HGNC:12231 TRBV6-6 T cell receptor beta variable 6-6 other T cell receptor gene Approved 7q34 07q34 "TRBV66|TCRBV13S6A2T|TCRBV6S6" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28601 ENSG00000211724 OTTHUMG00000158509 uc033alj.2 L36092 NG_001333 A0A0A6YYG2 8650574 TRBV6-6 HGNC:12231 +HGNC:12232 TRBV6-7 T cell receptor beta variable 6-7 (non-functional) other T cell receptor gene Approved 7q34 07q34 "TRBV67|TCRBV13S8P|TCRBV6S7" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28600 ENSG00000253188 OTTHUMG00000158511 uc033alo.2 L36092 NG_001333 A0A0A0MS04 8650574 TRBV6-7 HGNC:12232 +HGNC:12233 TRBV6-8 T cell receptor beta variable 6-8 other T cell receptor gene Approved 7q34 07q34 "TRBV68|TCRBV13S7P|TCRBV6S8" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28599 ENSG00000253534 OTTHUMG00000158916 uc033alu.2 L36092 NG_001333 A0A0A6YYG3 8650574 TRBV6-8 HGNC:12233 +HGNC:12234 TRBV6-9 T cell receptor beta variable 6-9 other T cell receptor gene Approved 7q34 alternate reference locus 07q34 alternate reference locus "TRBV69|TCRBV13S4|TCRBV6S9" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28598 uc284qdc.1 "X61447|KI270803" NG_001333 A0A0J9YX75 8650574 TRBV6-9 +HGNC:12235 TRBV7-1 T cell receptor beta variable 7-1 (non-functional) other T cell receptor gene Approved 7q34 07q34 "TRBV71|TCRBV6S7P|TCRBV7S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28597 ENSG00000211707 OTTHUMG00000158529 uc064ish.1 X61444 NG_001333 A0A0A6YYK4 8650574 TRBV7-1 HGNC:12235 +HGNC:12236 TRBV7-2 T cell receptor beta variable 7-2 other T cell receptor gene Approved 7q34 07q34 "TRBV72|TCRBV6S5A1N1|TCRBV7S2" T-cell receptor beta chain V region T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28596 ENSG00000282939 OTTHUMG00000191599 uc284qci.1 X61442 NG_001333 A0A1B0GXF2 8650574 TRBV7-2 HGNC:12236 +HGNC:12237 TRBV7-3 T cell receptor beta variable 7-3 other T cell receptor gene Approved 7q34 07q34 "TRBV73|TCRBV6S1A1N1|TCRBV7S3" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28595 ENSG00000211714 OTTHUMG00000158528 uc033ako.2 X61440 NG_001333 A0A075B6L6 8650574 TRBV7-3 HGNC:12237 +HGNC:12238 TRBV7-4 T cell receptor beta variable 7-4 other T cell receptor gene Approved 7q34 07q34 "TRBV74|TCRBV6S8A2T|TCRBV7S4" T cell receptor beta variable 7-4 (gene/pseudogene) T cell receptor beta locus at 7q34 372 2000-05-15 2020-05-01 2020-05-01 28594 ENSG00000253409 OTTHUMG00000158508 uc033alg.2 L36092 NG_001333 A0A1B0GX95 8650574 TRBV7-4 HGNC:12238 +HGNC:12239 TRBV7-5 T cell receptor beta variable 7-5 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 "TRBV75|TCRBV6S9P|TCRBV7S5" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28593 ENSG00000227550 OTTHUMG00000158506 L36092 NG_001333 8650574 PGOHUM00000233031 TRBV7-5 HGNC:12239 +HGNC:12240 TRBV7-6 T cell receptor beta variable 7-6 other T cell receptor gene Approved 7q34 07q34 "TRBV76|TCRBV6S3A1N1T|TCRBV7S6" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28592 ENSG00000211727 OTTHUMG00000158882 uc033alp.2 L36092 NG_001333 A0A1B0GX31 8650574 TRBV7-6 HGNC:12240 +HGNC:12241 TRBV7-7 T cell receptor beta variable 7-7 other T cell receptor gene Approved 7q34 07q34 "TRBV77|TCRBV6S6A2T|TCRBV7S7" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28591 ENSG00000253291 OTTHUMG00000158872 uc064isl.1 L36092 NG_001333 A0A0K0K1E9 8650574 TRBV7-7 HGNC:12241 +HGNC:12242 TRBV7-8 T cell receptor beta variable 7-8 other T cell receptor gene Approved 7q34 alternate reference locus 07q34 alternate reference locus "TRBV78|TCRBV6S2A1N1T|TCRBV7S8" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28590 uc284qdd.1 "M11953|KI270803" NG_001333 A0A1B0GX51 8650574 TRBV7-8 +HGNC:12243 TRBV7-9 T cell receptor beta variable 7-9 other T cell receptor gene Approved 7q34 07q34 "TRBV79|TCRBV6S4A1|TCRBV7S9" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28589 ENSG00000278030 OTTHUMG00000188552 uc033aly.2 L36092 NG_001333 P04435 8650574 TRBV7-9 HGNC:12243 +HGNC:12244 TRBV8-1 T cell receptor beta variable 8-1 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 "TRBV81|TCRBV30S1P|TCRBV8S1P" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28588 ENSG00000243889 OTTHUMG00000158518 L36092 NG_001333 8650574 PGOHUM00000262478 TRBV8-1 HGNC:12244 +HGNC:12245 TRBV8-2 T cell receptor beta variable 8-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 "TRBV82|TCRBV32S1P" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28587 ENSG00000239944 OTTHUMG00000158530 L36092 NG_001333 8650574 TRBV8-2 HGNC:12245 +HGNC:12246 TRBV9 T cell receptor beta variable 9 other T cell receptor gene Approved 7q34 07q34 "TCRBV1S1A1N1|TCRBV9S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28586 ENSG00000211716 OTTHUMG00000158527 uc033akq.2 L36092 NG_001333 A0A0B4J1U6 8650574 TRBV9 HGNC:12246 +HGNC:12177 TRBV10-1 T cell receptor beta variable 10-1 other T cell receptor gene Approved 7q34 07q34 "TRBV101|TCRBV10S1|TCRBV12S2A1T|TCRBV12S2" T cell receptor beta variable 10-1(gene/pseudogene) T cell receptor beta locus at 7q34 372 2000-05-15 2020-05-01 2020-05-01 28585 ENSG00000211717 OTTHUMG00000158514 uc064isi.1 U17050 NG_001333 A0A0K0K1A3 8650574 TRBV10-1 HGNC:12177 +HGNC:12178 TRBV10-2 T cell receptor beta variable 10-2 other T cell receptor gene Approved 7q34 07q34 "TRBV102|TCRBV10S2|TCRBV12S3" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28584 ENSG00000229769 OTTHUMG00000158535 uc064isj.1 U17049 NG_001333 A0A0K0K1G8 8650574 TRBV10-2 HGNC:12178 +HGNC:12179 TRBV10-3 T cell receptor beta variable 10-3 other T cell receptor gene Approved 7q34 07q34 "TRBV103|TCRBV10S3|TCRBV12S1A1N2" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28583 ENSG00000275791 OTTHUMG00000188554 uc064iso.1 U03115 NG_001333 A0A0K0K1G6 8650574 TRBV10-3 HGNC:12179 +HGNC:12180 TRBV11-1 T cell receptor beta variable 11-1 other T cell receptor gene Approved 7q34 07q34 "TRBV111|TCRBV11S1|TCRBV21S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28582 ENSG00000211720 OTTHUMG00000158505 uc033akx.2 M33233 NG_001333 A0A0K0K1C0 8650574 TRBV11-1 HGNC:12180 +HGNC:12181 TRBV11-2 T cell receptor beta variable 11-2 other T cell receptor gene Approved 7q34 07q34 "TRBV112|TCRBV11S2|TCRBV21S3A2N2T" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28581 ENSG00000241657 OTTHUMG00000158536 uc033alb.2 L36092 NG_001333 A0A584 8650574 PGOHUM00000233035 TRBV11-2 HGNC:12181 +HGNC:12182 TRBV11-3 T cell receptor beta variable 11-3 other T cell receptor gene Approved 7q34 07q34 "TRBV113|TCRBV11S3|TCRBV21S2A2" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28580 ENSG00000276597 OTTHUMG00000188555 uc033amc.2 M33234 NG_001333 A0A5A6 8650574 TRBV11-3 HGNC:12182 +HGNC:12183 TRBV12-1 T cell receptor beta variable 12-1 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 "TRBV121|TCRBV12S1|TCRBV8S4P" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28579 ENSG00000244661 OTTHUMG00000158507 X07224 NG_001333 8650574 PGOHUM00000233037 TRBV12-1 HGNC:12183 +HGNC:12184 TRBV12-2 T cell receptor beta variable 12-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 "TRBV122|TCRBV12S2|TCRBV8S5P" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28578 ENSG00000211739 OTTHUMG00000158523 X06936 NG_001333 8650574 PGOHUM00000262476 TRBV12-2 HGNC:12184 +HGNC:12185 TRBV12-3 T cell receptor beta variable 12-3 other T cell receptor gene Approved 7q34 07q34 "TRBV123|TCRBV12S3|TCRBV8S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28577 ENSG00000274752 OTTHUMG00000188556 uc064isp.1 X07192 NG_001333 P01733 8650574 MGI:98585 RGD:6493911 TRBV12-3 HGNC:12185 +HGNC:12186 TRBV12-4 T cell receptor beta variable 12-4 other T cell receptor gene Approved 7q34 07q34 "TRBV124|TCRBV12S4|TCRBV8S2A1T" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28576 ENSG00000276953 OTTHUMG00000188557 uc033amf.2 K02546 NG_001333 A0A0B4J2E0 8650574 MGI:98585 TRBV12-4 HGNC:12186 +HGNC:12187 TRBV12-5 T cell receptor beta variable 12-5 other T cell receptor gene Approved 7q34 07q34 "TRBV125|TCRBV12S5|TCRBV8S3" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28575 ENSG00000275158 OTTHUMG00000188558 uc064isq.1 X07223 NG_001333 A0A1B0GX78 8650574 TRBV12-5 HGNC:12187 +HGNC:12188 TRBV13 T cell receptor beta variable 13 other T cell receptor gene Approved 7q34 07q34 "TCRBV13S1|TCRBV23S1A2T" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28574 ENSG00000276405 OTTHUMG00000188553 uc064isn.1 U03115 NG_001333 A0A0A6YYD4 8650574 TRBV13 HGNC:12188 +HGNC:12189 TRBV14 T cell receptor beta variable 14 other T cell receptor gene Approved 7q34 07q34 "TCRBV14S1|TCRBV16S1A1N1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28573 ENSG00000275743 OTTHUMG00000188559 uc033amk.2 X06154 NG_001333 A0A5B0 8650574 TRBV14 HGNC:12189 +HGNC:12190 TRBV15 T cell receptor beta variable 15 other T cell receptor gene Approved 7q34 07q34 "TCRBV15S1|TCRBV24S1A3T" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28572 ENSG00000276819 OTTHUMG00000188560 uc033aml.2 U03115 NG_001333 8650574 TRBV15 HGNC:12190 +HGNC:12191 TRBV16 T cell receptor beta variable 16 other T cell receptor gene Approved 7q34 07q34 "TCRBV16S1|TCRBV25S1A2PT" T cell receptor beta variable 16 (gene/pseudogene) T cell receptor beta locus at 7q34 372 2000-05-15 2020-05-01 2020-05-01 28571 ENSG00000275243 OTTHUMG00000188561 uc064isr.1 L26231 NG_001333 A0A087WV62 8650574 TRBV16 HGNC:12191 +HGNC:12192 TRBV17 T cell receptor beta variable 17 (non-functional) other T cell receptor gene Approved 7q34 07q34 "TCRBV17S1|TCRBV26S1P" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28570 ENSG00000277880 OTTHUMG00000188562 uc064iss.1 U03115 NG_001333 A0A087X0K7 8650574 TRBV17 HGNC:12192 +HGNC:12193 TRBV18 T cell receptor beta variable 18 other T cell receptor gene Approved 7q34 07q34 TCRBV18S1 T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28569 ENSG00000276557 OTTHUMG00000188563 uc033amm.2 L36092 NG_001333 A0A087X0M5 8650574 TRBV18 HGNC:12193 +HGNC:12194 TRBV19 T cell receptor beta variable 19 other T cell receptor gene Approved 7q34 07q34 "TCRBV17S1A1T|TCRBV19S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28568 ENSG00000211746 OTTHUMG00000158877 uc003vzo.4 U48260 NG_001333 A0A075B6N1 8650574 TRBV19 HGNC:12194 +HGNC:12196 TRBV20-1 T cell receptor beta variable 20-1 other T cell receptor gene Approved 7q34 07q34 "TRBV201|TCRBV20S1|TCRBV2S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28567 ENSG00000211747 OTTHUMG00000158899 uc064ist.1 M11955 NG_001333 A0A075B6N2 8650574 TRBV20-1 HGNC:12196 +HGNC:12197 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 (non-functional) other T cell receptor gene Approved 9p13.3 09p13.3 "TRBV20/OR9-2|TCRBV20S2|TCRBV2S2O" T-cell receptor, beta variable region 2, orphon TCRBV2O TCRBV2O T cell receptor beta (TRB) orphons 373 1995-01-24 2017-12-06 2017-12-06 6962 ENSG00000205274 OTTHUMG00000019781 uc064sqk.1 L05149 NG_001337 8384723 TRBV20/OR9-2 HGNC:12197 +HGNC:12198 TRBV21-1 T cell receptor beta variable 21-1 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 "TRBV211|TCRBV10S1P|TCRBV21S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28566 ENSG00000251578 OTTHUMG00000158880 L27608 NG_001333 8650574 PGOHUM00000250971 TRBV21-1 HGNC:12198 +HGNC:12199 TRBV21OR9-2 T cell receptor beta variable 21/OR9-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 9p13.3 09p13.3 "TRBV21/OR9-2|TCRBV10S2O|TCRBV21S2" T-cell receptor, beta variable region 10, orphon TCRBV10O TCRBV10O T cell receptor beta (TRB) orphons 373 1995-01-24 2017-12-06 2017-12-06 6959 ENSG00000183938 OTTHUMG00000019783 uc064sql.1 L05151 NG_001337 8384723 TRBV21/OR9-2 HGNC:12199 +HGNC:12200 TRBV22-1 T cell receptor beta variable 22-1 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 "TCRBV22S1|TCRBV29S1P" TRBV22 TRBV22 T cell receptor beta locus at 7q34 372 2000-05-15 2008-09-11 2017-12-06 2017-12-06 28565 ENSG00000240578 OTTHUMG00000158895 L36092 NG_001333 8650574 TRBV22-1 HGNC:12200 +HGNC:18740 TRBV22OR9-2 T cell receptor beta variable 22/OR9-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 9p13.3 09p13.3 "TCRBV29S2O|TCRBV22S2|TRBV22/OR9-2" T cell receptor beta (TRB) orphons 373 2002-06-12 2017-12-06 2017-12-06 246283 ENSG00000234122 OTTHUMG00000000400 AF029308 NG_001337 8384723 TRBV22/OR9-2 HGNC:18740 +HGNC:12201 TRBV23-1 T cell receptor beta variable 23-1 (non-functional) other T cell receptor gene Approved 7q34 07q34 "TRBV231|TCRBV19S1P|TCRBV23S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28564 ENSG00000211749 OTTHUMG00000158920 uc064isu.1 L36092 NG_001333 A0A0A0MS06 8650574 TRBV23-1 HGNC:12201 +HGNC:12202 TRBV23OR9-2 T cell receptor beta variable 23/OR9-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 9p13.3 09p13.3 "TRBV23/OR9-2|TRBV23OR92|TCRBV19S2O|TCRBV23S2" "T cell receptor beta variable 23/OR9-2|T cell receptor beta variable 23/OR9-2 (non-functional)|T-cell receptor beta variable 23/OR9-2 (non-functional)|T-cell receptor beta variable 23/OR9-2 (pseudogene)" T cell receptor beta (TRB) orphons 373 2000-05-15 2017-12-06 2017-12-06 28552 ENSG00000229063 OTTHUMG00000019774 uc064sqm.1 L27615 NG_001337 8384723 TRBV23/OR9-2 HGNC:12202 +HGNC:12203 TRBV24-1 T cell receptor beta variable 24-1 other T cell receptor gene Approved 7q34 07q34 "TRBV241|TCRBV15S1|TCRBV24S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28563 ENSG00000211750 OTTHUMG00000158889 uc003vzx.4 M11951 NG_001333 A0A075B6N3 8650574 TRBV24-1 HGNC:12203 +HGNC:12204 TRBV24OR9-2 T cell receptor beta variable 24/OR9-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 9p13.3 09p13.3 "TRBV24/OR9-2|TCRBV15S2O|TCRBV24S2" T-cell receptor, beta variable region 15, orphan, T-cell receptor, beta variable region 15, orphon TCRBV15O TCRBV15O T cell receptor beta (TRB) orphons 373 1995-01-24 2017-12-06 2017-12-06 6961 ENSG00000215206 OTTHUMG00000152869 L05153 NG_001337 8384723 PGOHUM00000260499 TRBV24/OR9-2 HGNC:12204 +HGNC:12205 TRBV25-1 T cell receptor beta variable 25-1 other T cell receptor gene Approved 7q34 07q34 "TRBV251|TCRBV11S1A1T|TCRBV25S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28562 ENSG00000282499 OTTHUMG00000158868 uc284qdw.1 L27610 NG_001333 A0A075B6N4 8650574 TRBV25-1 HGNC:12205 +HGNC:12206 TRBV25OR9-2 T cell receptor beta variable 25/OR9-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 9p13.3 09p13.3 "TRBV25/OR9-2|TCRBV11S2O|TCRBV25S2" T-cell receptor, beta variable region 11, orphon TCRBV11O TCRBV11O T cell receptor beta (TRB) orphons 373 1995-01-24 2017-12-06 2017-12-06 6960 ENSG00000240215 OTTHUMG00000019791 L05152 NG_001337 8384723 TRBV25/OR9-2 HGNC:12206 +HGNC:12207 TRBV26 T cell receptor beta variable 26 (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 "TCRBV26S1|TCRBV28S1P" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28561 ENSG00000249912 OTTHUMG00000158928 L36092 NG_001333 8650574 PGOHUM00000263881 TRBV26 HGNC:12207 +HGNC:15485 TRBV26OR9-2 T cell receptor beta variable 26/OR9-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 9p13.3 09p13.3 "TRBV26/OR9-2|TCRBV28S2O|TCRBV28S2|TCRBV26S2" T cell receptor beta (TRB) orphons 373 2002-06-12 2017-12-06 2017-12-06 246285 ENSG00000231165 OTTHUMG00000000411 AF029308 NG_001337 8384723 PGOHUM00000250519 TRBV26/OR9-2 HGNC:15485 +HGNC:12208 TRBV27 T cell receptor beta variable 27 other T cell receptor gene Approved 7q34 07q34 "TCRBV14S1|TCRBV27S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28560 ENSG00000211752 OTTHUMG00000158924 uc033amu.2 L36092 NG_001333 A0A0K0K1C4 8650574 TRBV27 HGNC:12208 +HGNC:12209 TRBV28 T cell receptor beta variable 28 other T cell receptor gene Approved 7q34 07q34 "TCRBV28S1|TCRBV3S1" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28559 ENSG00000211753 OTTHUMG00000158900 uc033amv.2 U08314 NG_001333 A0A5B6 8650574 TRBV28 HGNC:12209 +HGNC:12210 TRBV29-1 T cell receptor beta variable 29-1 other T cell receptor gene Approved 7q34 07q34 "TRBV291|TCRBV29S1|TCRBV4S1A1T" T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28558 ENSG00000232869 OTTHUMG00000158898 uc033amx.2 L36092 NG_001333 A0A5B7 8650574 TRBV29-1 HGNC:12210 +HGNC:12211 TRBV29OR9-2 T cell receptor beta variable 29/OR9-2 (non-functional) other T cell receptor gene Approved 9p13.3 09p13.3 "TRBV29/OR9-2|TCRBV29S2|TCRBV4S2O" "T-cell receptor, beta cluster, variable region 4, orphon|T-cell receptor, beta variable region 4, orphon" TCRBV4O TCRBV4O T cell receptor beta (TRB) orphons 373 1993-07-13 2017-12-06 2017-12-06 6958 ENSG00000223394 OTTHUMG00000000415 L05150 NG_001337 8384723 PGOHUM00000236443 TRBV29/OR9-2 HGNC:12211 +HGNC:12214 TRBV30 T cell receptor beta variable 30 other T cell receptor gene Approved 7q34 07q34 "TCRBV20S1A1N2|TCRBV30S1" T cell receptor beta variable 30 (gene/pseudogene) T cell receptor beta locus at 7q34 372 2000-05-15 2020-05-01 2020-05-01 28557 ENSG00000237254 OTTHUMG00000158907 uc022aob.3 L36092 NG_001333 A0A0K0K1B3 8650574 TRBV30 HGNC:12214 +HGNC:12247 TRBVA T cell receptor beta variable A (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 TCRBV33S1 T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28556 ENSG00000239992 OTTHUMG00000158911 L36092 NG_001333 8650574 TRBVA HGNC:12247 +HGNC:18741 TRBVAOR9-2 T cell receptor beta variable A/OR9-2 (pseudogene) pseudogene T cell receptor pseudogene Approved 9p21 09p21 "TRBVA/OR9-2|TCRBV33S2" T cell receptor beta (TRB) orphons 373 2002-06-12 2017-12-06 2017-12-06 246286 AF029308 NG_001337 TRBVA/OR9-2 HGNC:18741 +HGNC:12248 TRBVB T cell receptor beta variable B (pseudogene) pseudogene T cell receptor pseudogene Approved 7q34 07q34 TCRBV34S1 T cell receptor beta locus at 7q34 372 2000-05-15 2017-12-06 2017-12-06 28555 ENSG00000241911 OTTHUMG00000158869 L36092 NG_001333 8650574 TRBVB HGNC:12248 +HGNC:50321 TRBVC T cell receptor beta variable C other T cell receptor gene Approved 7q34 07q34 T cell receptor beta locus at 7q34 372 2014-04-09 2017-12-06 2017-12-06 103106900 L36092 TRBVC +HGNC:35083 TRC-ACA1-1 tRNA-Cys (anticodon ACA) 1-1 pseudogene pseudogene Approved 5q33.1 05q33.1 tRNA-Cys-ACA-1-1 TRNAC32P "transfer RNA cysteine 32 (anticodon ACA) pseudogene|transfer RNA-Cys (ACA) 1-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189508 HG983684 NG_008566 tRNA-Cys-ACA-1-1 HGNC:35083 +HGNC:34706 TRC-GCA1-1 tRNA-Cys (anticodon GCA) 1-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-1-1 TRNAC10 "transfer RNA cysteine 10 (anticodon GCA)|transfer RNA-Cys (GCA) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189144 HG983685 tRNA-Cys-GCA-1-1 HGNC:34706 +HGNC:34760 TRC-GCA2-1 tRNA-Cys (anticodon GCA) 2-1 non-coding RNA RNA, transfer Approved 4q28.1 04q28.1 tRNA-Cys-GCA-2-1 "TRNAC16|TRC-GCA2-4" "transfer RNA cysteine 16 (anticodon GCA)|transfer RNA-Cys (GCA) 2-4|transfer RNA-Cys (GCA) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189197 HG983689 tRNA-Cys-GCA-2-1 HGNC:34760 +HGNC:34611 TRC-GCA2-2 tRNA-Cys (anticodon GCA) 2-2 non-coding RNA RNA, transfer Approved 17q12 17q12 tRNA-Cys-GCA-2-2 "TRNAC5|TRC-GCA2-1" "transfer RNA cysteine 5 (anticodon GCA)|transfer RNA-Cys (GCA) 2-1|transfer RNA-Cys (GCA) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189052 HG983686 tRNA-Cys-GCA-2-2 HGNC:34611 +HGNC:34666 TRC-GCA2-3 tRNA-Cys (anticodon GCA) 2-3 non-coding RNA RNA, transfer Approved 17q12 17q12 tRNA-Cys-GCA-2-3 "TRNAC9|TRC-GCA2-2" "transfer RNA cysteine 9 (anticodon GCA)|transfer RNA-Cys (GCA) 2-2|transfer RNA-Cys (GCA) 2-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189105 HG983687 tRNA-Cys-GCA-2-3 HGNC:34666 +HGNC:34983 TRC-GCA2-4 tRNA-Cys (anticodon GCA) 2-4 non-coding RNA RNA, transfer Approved 17q12 17q12 tRNA-Cys-GCA-2-4 "TRNAC29|TRC-GCA2-3" "transfer RNA cysteine 29 (anticodon GCA)|transfer RNA-Cys (GCA) 2-3|transfer RNA-Cys (GCA) 2-4" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189414 HG983688 tRNA-Cys-GCA-2-4 HGNC:34983 +HGNC:34658 TRC-GCA3-1 tRNA-Cys (anticodon GCA) 3-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-3-1 TRNAC8 "transfer RNA cysteine 8 (anticodon GCA)|transfer RNA-Cys (GCA) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189097 HG983690 tRNA-Cys-GCA-3-1 HGNC:34658 +HGNC:34650 TRC-GCA4-1 tRNA-Cys (anticodon GCA) 4-1 non-coding RNA RNA, transfer Approved 17q12 17q12 tRNA-Cys-GCA-4-1 TRNAC7 "transfer RNA cysteine 7 (anticodon GCA)|transfer RNA-Cys (GCA) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189090 HG983691 tRNA-Cys-GCA-4-1 HGNC:34650 +HGNC:34717 TRC-GCA5-1 tRNA-Cys (anticodon GCA) 5-1 non-coding RNA RNA, transfer Approved 15q25.1 15q25.1 tRNA-Cys-GCA-5-1 TRNAC12 "transfer RNA cysteine 12 (anticodon GCA)|transfer RNA-Cys (GCA) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189155 HG983692 tRNA-Cys-GCA-5-1 HGNC:34717 +HGNC:34741 TRC-GCA6-1 tRNA-Cys (anticodon GCA) 6-1 non-coding RNA RNA, transfer Approved 3q22.1 03q22.1 tRNA-Cys-GCA-6-1 TRNAC14 "transfer RNA cysteine 14 (anticodon GCA)|transfer RNA-Cys (GCA) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189179 HG983693 tRNA-Cys-GCA-6-1 HGNC:34741 +HGNC:38575 TRC-GCA7-1 tRNA-Cys (anticodon GCA) 7-1 non-coding RNA RNA, transfer Approved 1p22.1 01p22.1 tRNA-Cys-GCA-7-1 TRNAC33 "transfer RNA cysteine 33 (anticodon GCA)|transfer RNA-Cys (GCA) 7-1" Cytoplasmic transfer RNAs 842 2010-06-23 2014-06-19 2019-04-03 2020-02-13 107985761 HG983694 tRNA-Cys-GCA-7-1 +HGNC:34927 TRC-GCA8-1 tRNA-Cys (anticodon GCA) 8-1 non-coding RNA RNA, transfer Approved 14q24.2 14q24.2 tRNA-Cys-GCA-8-1 TRNAC24 "transfer RNA cysteine 24 (anticodon GCA)|transfer RNA-Cys (GCA) 8-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189359 HG983695 tRNA-Cys-GCA-8-1 HGNC:34927 +HGNC:34813 TRC-GCA9-1 tRNA-Cys (anticodon GCA) 9-1 non-coding RNA RNA, transfer Approved 3q22.1 03q22.1 tRNA-Cys-GCA-9-1 TRNAC18 "transfer RNA cysteine 18 (anticodon GCA)|transfer RNA-Cys (GCA) 9-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189250 HG983696 tRNA-Cys-GCA-9-1 HGNC:34813 +HGNC:34982 TRC-GCA9-2 tRNA-Cys (anticodon GCA) 9-2 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-9-2 TRNAC28 "transfer RNA cysteine 28 (anticodon GCA)|transfer RNA-Cys (GCA) 9-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189413 HG983697 tRNA-Cys-GCA-9-2 HGNC:34982 +HGNC:34944 TRC-GCA9-3 tRNA-Cys (anticodon GCA) 9-3 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-9-3 TRNAC26 "transfer RNA cysteine 26 (anticodon GCA)|transfer RNA-Cys (GCA) 9-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189376 HG983698 tRNA-Cys-GCA-9-3 HGNC:34944 +HGNC:34947 TRC-GCA9-4 tRNA-Cys (anticodon GCA) 9-4 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-9-4 TRNAC27 "transfer RNA cysteine 27 (anticodon GCA)|transfer RNA-Cys (GCA) 9-4" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189379 HG983699 tRNA-Cys-GCA-9-4 HGNC:34947 +HGNC:34871 TRC-GCA10-1 tRNA-Cys (anticodon GCA) 10-1 non-coding RNA RNA, transfer Approved 7p36.1 07p36.1 tRNA-Cys-GCA-10-1 TRNAC21 "transfer RNA cysteine 21 (anticodon GCA)|transfer RNA-Cys (GCA) 10-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189305 HG983700 tRNA-Cys-GCA-10-1 HGNC:34871 +HGNC:34566 TRC-GCA11-1 tRNA-Cys (anticodon GCA) 11-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-11-1 TRNAC2 "transfer RNA cysteine 2 (anticodon GCA)|transfer RNA-Cys (GCA) 11-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189008 HG983701 tRNA-Cys-GCA-11-1 HGNC:34566 +HGNC:34634 TRC-GCA12-1 tRNA-Cys (anticodon GCA) 12-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-12-1 TRNAC6 "transfer RNA cysteine 6 (anticodon GCA)|transfer RNA-Cys (GCA) 12-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189075 HG983702 tRNA-Cys-GCA-12-1 HGNC:34634 +HGNC:34925 TRC-GCA13-1 tRNA-Cys (anticodon GCA) 13-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-13-1 TRNAC23 "transfer RNA cysteine 23 (anticodon GCA)|transfer RNA-Cys (GCA) 13-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189357 HG983703 tRNA-Cys-GCA-13-1 HGNC:34925 +HGNC:35005 TRC-GCA14-1 tRNA-Cys (anticodon GCA) 14-1 non-coding RNA RNA, transfer Approved 17q12 17q12 tRNA-Cys-GCA-14-1 TRNAC30 "transfer RNA cysteine 30 (anticodon GCA)|transfer RNA-Cys (GCA) 14-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189435 HG983704 tRNA-Cys-GCA-14-1 HGNC:35005 +HGNC:34830 TRC-GCA15-1 tRNA-Cys (anticodon GCA) 15-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-15-1 TRNAC19 "transfer RNA cysteine 19 (anticodon GCA)|transfer RNA-Cys (GCA) 15-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189267 HG983705 tRNA-Cys-GCA-15-1 HGNC:34830 +HGNC:34708 TRC-GCA16-1 tRNA-Cys (anticodon GCA) 16-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-16-1 TRNAC11 "transfer RNA cysteine 11 (anticodon GCA)|transfer RNA-Cys (GCA) 16-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189146 HG983706 tRNA-Cys-GCA-16-1 HGNC:34708 +HGNC:34855 TRC-GCA17-1 tRNA-Cys (anticodon GCA) 17-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-17-1 TRNAC20 "transfer RNA cysteine 20 (anticodon GCA)|transfer RNA-Cys (GCA) 17-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189289 HG983707 tRNA-Cys-GCA-17-1 HGNC:34855 +HGNC:34608 TRC-GCA18-1 tRNA-Cys (anticodon GCA) 18-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-18-1 TRNAC4 "transfer RNA cysteine 4 (anticodon GCA)|transfer RNA-Cys (GCA) 18-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189049 HG983708 tRNA-Cys-GCA-18-1 HGNC:34608 +HGNC:34739 TRC-GCA19-1 tRNA-Cys (anticodon GCA) 19-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-19-1 TRNAC13 "transfer RNA cysteine 13 (anticodon GCA)|transfer RNA-Cys (GCA) 19-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189177 HG983709 tRNA-Cys-GCA-19-1 HGNC:34739 +HGNC:34923 TRC-GCA20-1 tRNA-Cys (anticodon GCA) 20-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-20-1 TRNAC22 "transfer RNA cysteine 22 (anticodon GCA)|transfer RNA-Cys (GCA) 20-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189355 HG983710 tRNA-Cys-GCA-20-1 HGNC:34923 +HGNC:34943 TRC-GCA21-1 tRNA-Cys (anticodon GCA) 21-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-21-1 TRNAC25 "transfer RNA cysteine 25 (anticodon GCA)|transfer RNA-Cys (GCA) 21-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189375 HG983711 tRNA-Cys-GCA-21-1 HGNC:34943 +HGNC:34588 TRC-GCA22-1 tRNA-Cys (anticodon GCA) 22-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-22-1 TRNAC3 "transfer RNA cysteine 3 (anticodon GCA)|transfer RNA-Cys (GCA) 22-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189029 HG983712 tRNA-Cys-GCA-22-1 HGNC:34588 +HGNC:34757 TRC-GCA23-1 tRNA-Cys (anticodon GCA) 23-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Cys-GCA-23-1 TRNAC15 "transfer RNA cysteine 15 (anticodon GCA)|transfer RNA-Cys (GCA) 23-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189194 HG983713 tRNA-Cys-GCA-23-1 HGNC:34757 +HGNC:12250 TRC-GCA24-1 tRNA-Cys (GCA) 24-1 non-coding RNA RNA, transfer Approved 17q12 17q12 tRNA-Cys-GCA-24-1 "TRC|TRNAC1" "tRNA cysteine|transfer RNA cysteine|transfer RNA cysteine 1 (anticodon GCA)|transfer RNA-Cys (GCA) 24-1" Low confidence cytoplasmic transfer RNAs 1877 1994-02-18 2014-06-19 2018-11-20 2018-11-20 7183 HG983714 tRNA-Cys-GCA-24-1 +HGNC:35017 TRC-GCA25-1 tRNA-Cys (anticodon GCA) 25-1 pseudogene pseudogene Approved 3p24.3 03p24.3 tRNA-Cys-GCA-25-1 TRNAC31P "transfer RNA cysteine 31 (anticodon GCA) pseudogene|transfer RNA-Cys (GCA) 25-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189447 HG983715 NG_008503 tRNA-Cys-GCA-25-1 HGNC:35017 +HGNC:12252 TRD T cell receptor delta locus protein-coding gene gene with protein product Approved 14q11.2 14q11.2 TCRDV1 "TCRD|TRD@" TCRD, TRD@ T cell receptor delta locus at 14q11.2 374 1988-07-04 2013-03-05 2017-12-06 2017-12-06 6964 M21624 NG_001332 "2456576|2439914" 330897 HGNC:12252 +HGNC:56197 TRD-AS1 TRD antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Antisense RNAs 1987 2022-01-31 2022-01-31 105370401 ENSG00000251002 NR_148361 +HGNC:34770 TRD-GTC1-1 tRNA-Asp (anticodon GTC) 1-1 non-coding RNA RNA, transfer Approved 12q23.1 12q23.1 tRNA-Asp-GTC-1-1 TRNAD10 "transfer RNA aspartic acid 10 (anticodon GUC)|transfer RNA-Asp (GTC) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189207 HG983664 tRNA-Asp-GTC-1-1 HGNC:34770 +HGNC:34981 TRD-GTC2-1 tRNA-Asp (anticodon GTC) 2-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asp-GTC-2-1 TRNAD18 "transfer RNA aspartic acid 18 (anticodon GUC)|transfer RNA-Asp (GTC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189412 HG983665 tRNA-Asp-GTC-2-1 HGNC:34981 +HGNC:34798 TRD-GTC2-2 tRNA-Asp (anticodon GTC) 2-2 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asp-GTC-2-2 TRNAD11 "transfer RNA aspartic acid 11 (anticodon GUC)|transfer RNA-Asp (GTC) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189235 HG983666 tRNA-Asp-GTC-2-2 HGNC:34798 +HGNC:34856 TRD-GTC2-3 tRNA-Asp (anticodon GTC) 2-3 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asp-GTC-2-3 TRNAD13 "transfer RNA aspartic acid 13 (anticodon GUC)|transfer RNA-Asp (GTC) 2-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189290 HG983667 tRNA-Asp-GTC-2-3 HGNC:34856 +HGNC:34696 TRD-GTC2-4 tRNA-Asp (anticodon GTC) 2-4 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asp-GTC-2-4 TRNAD6 "transfer RNA aspartic acid 6 (anticodon GUC)|transfer RNA-Asp (GTC) 2-4" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189134 HG983668 tRNA-Asp-GTC-2-4 HGNC:34696 +HGNC:34682 TRD-GTC2-5 tRNA-Asp (anticodon GTC) 2-5 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asp-GTC-2-5 TRNAD5 "transfer RNA aspartic acid 5 (anticodon GUC)|transfer RNA-Asp (GTC) 2-5" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189120 HG983669 tRNA-Asp-GTC-2-5 HGNC:34682 +HGNC:34720 TRD-GTC2-6 tRNA-Asp (anticodon GTC) 2-6 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Asp-GTC-2-6 "TRNAD8|TRD-GTC2-10" "transfer RNA aspartic acid 8 (anticodon GUC)|transfer RNA-Asp (GTC) 2-10|transfer RNA-Asp (GTC) 2-6" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189158 HG983674 tRNA-Asp-GTC-2-6 HGNC:34720 +HGNC:34858 TRD-GTC2-7 tRNA-Asp (anticodon GTC) 2-7 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Asp-GTC-2-7 "TRNAD14|TRD-GTC2-11" "transfer RNA aspartic acid 14 (anticodon GUC)|transfer RNA-Asp (GTC) 2-11|transfer RNA-Asp (GTC) 2-7" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189292 HG983675 tRNA-Asp-GTC-2-7 HGNC:34858 +HGNC:34802 TRD-GTC2-8 tRNA-Asp (anticodon GTC) 2-8 non-coding RNA RNA, transfer Approved 12q23.1 12q23.1 tRNA-Asp-GTC-2-8 "TRNAD12|TRD-GTC2-6" "transfer RNA aspartic acid 12 (anticodon GUC)|transfer RNA-Asp (GTC) 2-6|transfer RNA-Asp (GTC) 2-8" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189239 HG983670 tRNA-Asp-GTC-2-8 HGNC:34802 +HGNC:34911 TRD-GTC2-9 tRNA-Asp (anticodon GTC) 2-9 non-coding RNA RNA, transfer Approved 12q24.31 12q24.31 tRNA-Asp-GTC-2-9 "TRNAD15|TRD-GTC2-7" "transfer RNA aspartic acid 15 (anticodon GUC)|transfer RNA-Asp (GTC) 2-7|transfer RNA-Asp (GTC) 2-9" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189343 HG983671 tRNA-Asp-GTC-2-9 HGNC:34911 +HGNC:34915 TRD-GTC2-10 tRNA-Asp (anticodon GTC) 2-10 non-coding RNA RNA, transfer Approved 12q24.31 12q24.31 tRNA-Asp-GTC-2-10 "TRNAD16|TRD-GTC2-8" "transfer RNA aspartic acid 16 (anticodon GUC)|transfer RNA-Asp (GTC) 2-8|transfer RNA-Asp (GTC) 2-10" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189347 HG983672 tRNA-Asp-GTC-2-10 HGNC:34915 +HGNC:34951 TRD-GTC2-11 tRNA-Asp (anticodon GTC) 2-11 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Asp-GTC-2-11 "TRNAD17|TRD-GTC2-9" "transfer RNA aspartic acid 17 (anticodon GUC)|transfer RNA-Asp (GTC) 2-9|transfer RNA-Asp (GTC) 2-11" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189383 HG983673 tRNA-Asp-GTC-2-11 HGNC:34951 +HGNC:34763 TRD-GTC3-1 tRNA-Asp (anticodon GTC) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Asp-GTC-3-1 TRNAD9 "transfer RNA aspartic acid 9 (anticodon GUC)|transfer RNA-Asp (GTC) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189200 HG983676 tRNA-Asp-GTC-3-1 HGNC:34763 +HGNC:34551 TRD-GTC4-1 tRNA-Asp (GTC) 4-1 non-coding RNA RNA, transfer Approved 9q21.13 09q21.13 tRNA-Asp-GTC-4-1 TRNAD2 "transfer RNA aspartic acid 2 (anticodon GUC)|transfer RNA-Asp (GTC) 4-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100188994 HG983677 tRNA-Asp-GTC-4-1 +HGNC:34620 TRD-GTC5-1 tRNA-Asp (GTC) 5-1 non-coding RNA RNA, transfer Approved 5q31.3 05q31.3 tRNA-Asp-GTC-5-1 TRNAD3 "transfer RNA aspartic acid 3 (anticodon GUC)|transfer RNA-Asp (GTC) 5-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189061 HG983678 tRNA-Asp-GTC-5-1 +HGNC:34712 TRD-GTC6-1 tRNA-Asp (GTC) 6-1 non-coding RNA RNA, transfer Approved 3q27.1 03q27.1 tRNA-Asp-GTC-6-1 TRNAD7 "transfer RNA aspartic acid 7 (anticodon GUC)|transfer RNA-Asp (GTC) 6-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189150 HG983679 tRNA-Asp-GTC-6-1 +HGNC:34647 TRD-GTC7-1 tRNA-Asp (GTC) 7-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asp-GTC-7-1 TRNAD4 "transfer RNA aspartic acid 4 (anticodon GUC)|transfer RNA-Asp (GTC) 7-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189087 HG983680 tRNA-Asp-GTC-7-1 +HGNC:35000 TRD-GTC8-1 tRNA-Asp (GTC) 8-1 non-coding RNA RNA, transfer Approved 12q24.31 12q24.31 tRNA-Asp-GTC-8-1 TRNAD19 "transfer RNA aspartic acid 19 (anticodon GUC)|transfer RNA-Asp (GTC) 8-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189431 HG983681 tRNA-Asp-GTC-8-1 +HGNC:12251 TRD-GTC9-1 tRNA-Asp (anticodon GTC) 9-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asp-GTC-9-1 "TRD|TRNAD1" "tRNA aspartic acid|transfer RNA aspartic acid 1 (anticodon GUC)|transfer RNA-Asp (GTC) 9-1" Low confidence cytoplasmic transfer RNAs 1877 1994-02-18 2014-06-19 2019-04-03 2019-04-03 7192 HG983682 tRNA-Asp-GTC-9-1 +HGNC:35070 TRD-GTC10-1 tRNA-Asp (GTC) 10-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asp-GTC-10-1 TRNAD20P "transfer RNA aspartic acid 20 (anticodon GUC) pseudogene|transfer RNA-Asp (GTC) 10-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189495 HG983683 NG_008553 tRNA-Asp-GTC-10-1 HGNC:35070 +HGNC:12253 TRDC T cell receptor delta constant other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28526 ENSG00000211829 OTTHUMG00000170905 uc058zfj.1 M22148 NG_001332 B7Z8K6 186810 TRDC HGNC:12253 +HGNC:12254 TRDD1 T cell receptor delta diversity 1 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28525 ENSG00000223997 OTTHUMG00000170844 uc058zfb.1 M23325 NG_001332 P0DPR3 2974163 TRDD1 HGNC:12254 +HGNC:12255 TRDD2 T cell receptor delta diversity 2 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28524 ENSG00000237235 OTTHUMG00000170845 uc058zfc.1 M22153 NG_001332 3413078 TRDD2 HGNC:12255 +HGNC:12256 TRDD3 T cell receptor delta diversity 3 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28523 ENSG00000228985 OTTHUMG00000170846 uc058zfd.1 M22152 NG_001332 3413078 TRDD3 HGNC:12256 +HGNC:12257 TRDJ1 T cell receptor delta joining 1 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28522 ENSG00000211825 OTTHUMG00000170847 uc058zfe.1 M20289 NG_001332 A0A075B706 2836865 TRDJ1 HGNC:12257 +HGNC:12258 TRDJ2 T cell receptor delta joining 2 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28521 ENSG00000211827 OTTHUMG00000170903 uc058zfg.1 L36386 NG_001332 2974163 TRDJ2 HGNC:12258 +HGNC:12259 TRDJ3 T cell receptor delta joining 3 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28520 ENSG00000211828 OTTHUMG00000170904 uc058zfh.1 M21508 NG_001332 3186718 TRDJ3 HGNC:12259 +HGNC:12260 TRDJ4 T cell receptor delta joining 4 other T cell receptor gene Approved 14q11.2 14q11.2 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28519 ENSG00000211826 OTTHUMG00000170902 uc058zff.1 NG_001332 8207230 TRDJ4 HGNC:12260 +HGNC:2977 TRDMT1 tRNA aspartic acid methyltransferase 1 protein-coding gene gene with protein product Approved 10p13 10p13 RNMT1 tRNA (cytosine(38)-C(5))-methyltransferase DNMT2 DNA (cytosine-5-)-methyltransferase 2 7BS C5-cytosine DNA/RNA methyltransferases 2060 1998-05-07 2006-10-23 2006-10-23 2016-10-05 1787 ENSG00000107614 OTTHUMG00000017745 uc001iop.4 AJ223333 NM_004412 CCDS7114 O14717 "9425235|9763678|16424344" MGI:1274787 RGD:1306292 602478 2.1.1.204 HGNC:2977 "ENST00000377799.8|NM_004412.7" +HGNC:12261 TRDN triadin protein-coding gene gene with protein product Approved 6q22.31 06q22.31 TRISK triadin in skeletal muscle 1999-12-17 2021-05-26 10345 ENSG00000186439 OTTHUMG00000015497 uc003pzj.2 U18985 NM_001251987 "CCDS75511|CCDS59035|CCDS59034|CCDS55053" Q13061 7588753 MGI:1924007 RGD:619856 603283 304242 HGNC:12261 "ENST00000334268.9|NM_006073.4" HGNC:12261 +HGNC:40592 TRDN-AS1 TRDN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q22.31 06q22.31 HRAT13 heart tissue-associated transcript 13 Antisense RNAs 1987 2017-08-30 2017-08-30 101927990 ENSG00000235535 OTTHUMG00000015496 NR_110844 28839111 HGNC:40592 +HGNC:12262 TRDV1 T cell receptor delta variable 1 other T cell receptor gene Approved 14q11.2 14q11.2 hDV101S1 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28518 ENSG00000211804 OTTHUMG00000170651 uc058zee.1 M22198 NG_001332 A0A1B0GX56 3186718 TRDV1 HGNC:12262 +HGNC:12263 TRDV2 T cell receptor delta variable 2 other T cell receptor gene Approved 14q11.2 14q11.2 "hDV102S1|MGC117421" T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28517 ENSG00000211821 OTTHUMG00000170843 uc001wdu.3 X15207 NG_001332 A0JD36 2526321 MGI:4887419 TRDV2 HGNC:12263 +HGNC:12264 TRDV3 T cell receptor delta variable 3 other T cell receptor gene Approved 14q11.2 14q11.2 hDV103S1 T cell receptor delta locus at 14q11.2 374 2000-05-15 2017-12-06 2017-12-06 28516 ENSG00000256590 OTTHUMG00000168896 uc001web.2 M23326 NG_001332 A0JD37 2974163 TRDV3 HGNC:12264 +HGNC:34952 TRE-CTC1-1 tRNA-Glu (anticodon CTC) 1-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Glu-CTC-1-1 TRNAE21 "transfer RNA glutamic acid 21 (anticodon CUC)|transfer RNA-Glu (CTC) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189384 HG983753 tRNA-Glu-CTC-1-1 HGNC:34952 +HGNC:34651 TRE-CTC1-2 tRNA-Glu (anticodon CTC) 1-2 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Glu-CTC-1-2 TRNAE13 "transfer RNA glutamic acid 13 (anticodon CUC)|transfer RNA-Glu (CTC) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189091 HG983754 tRNA-Glu-CTC-1-2 HGNC:34651 +HGNC:34953 TRE-CTC1-3 tRNA-Glu (anticodon CTC) 1-3 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Glu-CTC-1-3 TRNAE22 "transfer RNA glutamic acid 22 (anticodon CUC)|transfer RNA-Glu (CTC) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189385 HG983755 tRNA-Glu-CTC-1-3 HGNC:34953 +HGNC:34822 TRE-CTC1-4 tRNA-Glu (anticodon CTC) 1-4 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Glu-CTC-1-4 TRNAE18 "transfer RNA glutamic acid 18 (anticodon CUC)|transfer RNA-Glu (CTC) 1-4" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189259 HG983756 tRNA-Glu-CTC-1-4 HGNC:34822 +HGNC:34576 TRE-CTC1-5 tRNA-Glu (anticodon CTC) 1-5 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Glu-CTC-1-5 TRNAE5 "transfer RNA glutamic acid 5 (anticodon CUC)|transfer RNA-Glu (CTC) 1-5" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189017 HG983757 tRNA-Glu-CTC-1-5 HGNC:34576 +HGNC:34583 TRE-CTC1-6 tRNA-Glu (anticodon CTC) 1-6 non-coding RNA RNA, transfer Approved 6q22.31 06q22.31 tRNA-Glu-CTC-1-6 TRNAE6 "transfer RNA glutamic acid 6 (anticodon CUC)|transfer RNA-Glu (CTC) 1-6" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189024 HG983758 tRNA-Glu-CTC-1-6 HGNC:34583 +HGNC:34832 TRE-CTC1-7 tRNA-Glu (anticodon CTC) 1-7 non-coding RNA RNA, transfer Approved 6q22.31 06q22.31 tRNA-Glu-CTC-1-7 TRNAE19 "transfer RNA glutamic acid 19 (anticodon CUC)|transfer RNA-Glu (CTC) 1-7" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189269 HG983759 tRNA-Glu-CTC-1-7 HGNC:34832 +HGNC:34978 TRE-CTC2-1 tRNA-Glu (anticodon CTC) 2-1 non-coding RNA RNA, transfer Approved 1q44 01q44 tRNA-Glu-CTC-2-1 TRNAE24 "transfer RNA glutamic acid 24 (anticodon CUC)|transfer RNA-Glu (CTC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189409 HG983760 tRNA-Glu-CTC-2-1 HGNC:34978 +HGNC:34564 TRE-CTC3-1 tRNA-Glu (CTC) 3-1 non-coding RNA RNA, transfer Approved 13q14.11 13q14.11 tRNA-Glu-CTC-3-1 TRNAE4 "transfer RNA glutamic acid 4 (anticodon CUC)|transfer RNA-Glu (CTC) 3-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189007 HG983761 tRNA-Glu-CTC-3-1 +HGNC:35081 TRE-CTC4-1 tRNA-Glu (CTC) 4-1 non-coding RNA RNA, transfer Approved 13q21.1 13q21.1 tRNA-Glu-CTC-4-1 TRNAE39P "transfer RNA glutamic acid 39 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 4-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189506 HG983762 NG_008564 tRNA-Glu-CTC-4-1 HGNC:35081 +HGNC:34799 TRE-CTC5-1 tRNA-Glu (CTC) 5-1 non-coding RNA RNA, transfer Approved 8q12.1 08q12.1 tRNA-Glu-CTC-5-1 TRNAE17 "transfer RNA glutamic acid 17 (anticodon CUC)|transfer RNA-Glu (CTC) 5-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189236 HG983763 tRNA-Glu-CTC-5-1 +HGNC:34986 TRE-CTC6-1 tRNA-Glu (anticodon CTC) 6-1 non-coding RNA RNA, transfer Approved 18q12.3 18q12.3 tRNA-Glu-CTC-6-1 TRNAE25 "transfer RNA glutamic acid 25 (anticodon CUC)|transfer RNA-Glu (CTC) 6-1" 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189417 HG983764 tRNA-Glu-CTC-6-1 +HGNC:35065 TRE-CTC7-1 tRNA-Glu (anticodon CTC) 7-1 pseudogene pseudogene Approved 2q24.1 02q24.1 tRNA-Glu-CTC-7-1 TRNAE36P "transfer RNA glutamic acid 36 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 7-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189491 HG983765 NG_008549 tRNA-Glu-CTC-7-1 HGNC:35065 +HGNC:34603 TRE-CTC8-1 tRNA-Glu (CTC) 8-1 non-coding RNA RNA, transfer Approved 3q21.2 03q21.2 tRNA-Glu-CTC-8-1 TRNAE9 "transfer RNA glutamic acid 9 (anticodon CUC)|transfer RNA-Glu (CTC) 8-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189044 HG983766 tRNA-Glu-CTC-8-1 +HGNC:35069 TRE-CTC9-1 tRNA-Glu (CTC) 9-1 non-coding RNA RNA, transfer Approved 2q23.3 02q23.3 tRNA-Glu-CTC-9-1 TRNAE38P "transfer RNA glutamic acid 38 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 9-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189494 HG983767 NG_008552 tRNA-Glu-CTC-9-1 HGNC:35069 +HGNC:35109 TRE-CTC10-1 tRNA-Glu (CTC) 10-1 non-coding RNA RNA, transfer Approved 20p12.1 20p12.1 tRNA-Glu-CTC-10-1 TRNAE43P "transfer RNA glutamic acid 43 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 10-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189532 HG983768 NG_008590 tRNA-Glu-CTC-10-1 HGNC:35109 +HGNC:35061 TRE-CTC11-1 tRNA-Glu (CTC) 11-1 non-coding RNA RNA, transfer Approved 8p23.1 08p23.1 tRNA-Glu-CTC-11-1 TRNAE35P "transfer RNA glutamic acid 35 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 11-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189488 HG983769 NG_008546 tRNA-Glu-CTC-11-1 HGNC:35061 +HGNC:35010 TRE-CTC12-1 tRNA-Glu (CTC) 12-1 non-coding RNA RNA, transfer Approved 3q13.11 03q13.11 tRNA-Glu-CTC-12-1 TRNAE27P "transfer RNA glutamic acid 27 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 12-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189440 HG983770 NG_008496 tRNA-Glu-CTC-12-1 HGNC:35010 +HGNC:35031 TRE-CTC13-1 tRNA-Glu (CTC) 13-1 non-coding RNA RNA, transfer Approved 2q11.1 02q11.1 tRNA-Glu-CTC-13-1 TRNAE31P "transfer RNA glutamic acid 31 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 13-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189459 HG983771 NG_008516 tRNA-Glu-CTC-13-1 HGNC:35031 +HGNC:35020 TRE-CTC14-1 tRNA-Glu (CTC) 14-1 non-coding RNA RNA, transfer Approved 8q13.2 08q13.2 tRNA-Glu-CTC-14-1 TRNAE28P "transfer RNA glutamic acid 28 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 14-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189450 HG983772 NG_008506 tRNA-Glu-CTC-14-1 HGNC:35020 +HGNC:35104 TRE-CTC15-1 tRNA-Glu (CTC) 15-1 non-coding RNA RNA, transfer Approved 2p13.3 02p13.3 tRNA-Glu-CTC-15-1 TRNAE41P "transfer RNA glutamic acid 41 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 15-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189527 HG983773 NG_008585 tRNA-Glu-CTC-15-1 HGNC:35104 +HGNC:35105 TRE-CTC16-1 tRNA-Glu (anticodon CTC) 16-1 pseudogene pseudogene Approved 12q24.21 12q24.21 tRNA-Glu-CTC-16-1 TRNAE42P "transfer RNA glutamic acid 42 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 16-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189528 HG983774 NG_008586 tRNA-Glu-CTC-16-1 HGNC:35105 +HGNC:34675 TRE-CTC17-1 tRNA-Glu (CTC) 17-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Glu-CTC-17-1 TRNAE14 "transfer RNA glutamic acid 14 (anticodon CUC)|transfer RNA-Glu (CTC) 17-1" 2008-08-29 2014-06-19 2018-11-20 2018-11-20 100189113 HG983775 tRNA-Glu-CTC-17-1 +HGNC:35067 TRE-CTC18-1 tRNA-Glu (CTC) 18-1 non-coding RNA RNA, transfer Approved Xp11.22 Xp11.22 tRNA-Glu-CTC-18-1 TRNAE37P "transfer RNA glutamic acid 37 (anticodon CUC) pseudogene|transfer RNA-Glu (CTC) 18-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189492 HG983776 NG_008550 tRNA-Glu-CTC-18-1 HGNC:35067 +HGNC:34987 TRE-TTC1-1 tRNA-Glu (anticodon TTC) 1-1 non-coding RNA RNA, transfer Approved 2q21.1 02q21.1 tRNA-Glu-TTC-1-1 "TRNAE26|TRE-TTC1-2" "transfer RNA glutamic acid 26 (anticodon UUC)|transfer RNA-Glu (TTC) 1-2|transfer RNA-Glu (TTC) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189418 HG983778 tRNA-Glu-TTC-1-1 HGNC:34987 +HGNC:34901 TRE-TTC1-2 tRNA-Glu (anticodon TTC) 1-2 non-coding RNA RNA, transfer Approved 13q14.11 13q14.11 tRNA-Glu-TTC-1-2 "TRNAE20|TRE-TTC1-1" "transfer RNA glutamic acid 20 (anticodon UUC)|transfer RNA-Glu (TTC) 1-1|transfer RNA-Glu (TTC) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189333 HG983777 tRNA-Glu-TTC-1-2 HGNC:34901 +HGNC:34589 TRE-TTC2-1 tRNA-Glu (anticodon TTC) 2-1 non-coding RNA RNA, transfer Approved 13q14.12 13q14.12 tRNA-Glu-TTC-2-1 TRNAE7 "transfer RNA glutamic acid 7 (anticodon UUC)|transfer RNA-Glu (TTC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189030 HG983779 tRNA-Glu-TTC-2-1 HGNC:34589 +HGNC:34622 TRE-TTC2-2 tRNA-Glu (anticodon TTC) 2-2 non-coding RNA RNA, transfer Approved 15q12 15q12 tRNA-Glu-TTC-2-2 TRNAE11 "transfer RNA glutamic acid 11 (anticodon UUC)|transfer RNA-Glu (TTC) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189063 HG983780 tRNA-Glu-TTC-2-2 HGNC:34622 +HGNC:12265 TRE-TTC3-1 tRNA-Glu (anticodon TTC) 3-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Glu-TTC-3-1 "TRE|TRNAE1" "tRNA glutamic acid|transfer RNA glutamic acid 1 (anticodon UUC)|transfer RNA-Glu (TTC) 3-1" Cytoplasmic transfer RNAs 842 1989-05-11 2014-06-19 2019-04-04 2019-04-04 7193 HG983781 6134271 180640 tRNA-Glu-TTC-3-1 HGNC:12265 +HGNC:38581 TRE-TTC4-1 tRNA-Glu (anticodon TTC) 4-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Glu-TTC-4-1 TRNAE44 "transfer RNA glutamic acid 44 (anticodon UUC)|transfer RNA-Glu (TTC) 4-1" Cytoplasmic transfer RNAs 842 2010-06-23 2014-06-19 2019-04-04 2020-02-13 107985758 HG983782 tRNA-Glu-TTC-4-1 +HGNC:34976 TRE-TTC4-2 tRNA-Glu (anticodon TTC) 4-2 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Glu-TTC-4-2 TRNAE23 "transfer RNA glutamic acid 23 (anticodon UUC)|transfer RNA-Glu (TTC) 4-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189407 HG983783 tRNA-Glu-TTC-4-2 HGNC:34976 +HGNC:34590 TRE-TTC5-1 tRNA-Glu (TTC) 5-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Glu-TTC-5-1 TRNAE8 "transfer RNA glutamic acid 8 (anticodon UUC)|transfer RNA-Glu (TTC) 5-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189031 HG983784 tRNA-Glu-TTC-5-1 +HGNC:35037 TRE-TTC6-1 tRNA-Glu (anticodon TTC) 6-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Glu-TTC-6-1 TRNAE32P "transfer RNA glutamic acid 32 (anticodon UUC) pseudogene|transfer RNA-Glu (TTC) 6-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189465 HG983785 NG_008523 tRNA-Glu-TTC-6-1 HGNC:35037 +HGNC:35028 TRE-TTC7-1 tRNA-Glu (anticodon TTC) 7-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Glu-TTC-7-1 TRNAE30P "transfer RNA glutamic acid 30 (anticodon UUC) pseudogene|transfer RNA-Glu (TTC) 7-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189457 HG983786 NG_008514 tRNA-Glu-TTC-7-1 HGNC:35028 +HGNC:34627 TRE-TTC8-1 tRNA-Glu (anticodon TTC) 8-1 pseudogene pseudogene Approved 1p11.2 01p11.2 tRNA-Glu-TTC-8-1 TRNAE12 "transfer RNA glutamic acid 12 (anticodon UUC)|transfer RNA-Glu (TTC) 8-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-04-04 2019-12-06 100189068 HG983787 tRNA-Glu-TTC-8-1 +HGNC:54204 TRE-TTC8-2 tRNA-Glu (TTC) 8-2 non-coding RNA RNA, transfer Approved 1p22.1 01p22.1 tRNA-Glu-TTC-8-2 Low confidence cytoplasmic transfer RNAs 1877 2019-03-28 2019-03-28 +HGNC:35093 TRE-TTC9-1 tRNA-Glu (anticodon TTC) 9-1 pseudogene pseudogene Approved 2q33.2 02q33.2 tRNA-Glu-TTC-9-1 TRNAE40P "transfer RNA glutamic acid 40 (anticodon UUC) pseudogene|transfer RNA-Glu (TTC) 9-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189518 HG983788 NG_008576 tRNA-Glu-TTC-9-1 HGNC:35093 +HGNC:35025 TRE-TTC10-1 tRNA-Glu (anticodon TTC) 10-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Glu-TTC-10-1 TRNAE29P "transfer RNA glutamic acid 29 (anticodon UUC) pseudogene|transfer RNA-Glu (TTC) 10-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189454 HG983789 NG_008510 tRNA-Glu-TTC-10-1 HGNC:35025 +HGNC:34691 TRE-TTC11-1 tRNA-Glu (anticodon TTC) 11-1 pseudogene pseudogene Approved 14q12 14q12 tRNA-Glu-TTC-11-1 TRNAE15 "transfer RNA glutamic acid 15 (anticodon UUC)|transfer RNA-Glu (TTC) 11-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189129 HG983790 tRNA-Glu-TTC-11-1 +HGNC:34557 TRE-TTC12-1 tRNA-Glu (anticodon TTC) 12-1 pseudogene pseudogene Approved 1q24.3 01q24.3 tRNA-Glu-TTC-12-1 TRNAE3 "transfer RNA glutamic acid 3 (anticodon UUC)|transfer RNA-Glu (TTC) 12-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189000 HG983791 tRNA-Glu-TTC-12-1 +HGNC:34613 TRE-TTC13-1 tRNA-Glu (anticodon TTC) 13-1 pseudogene pseudogene Approved 2p12 02p12 tRNA-Glu-TTC-13-1 TRNAE10 "transfer RNA glutamic acid 10 (anticodon UUC)|transfer RNA-Glu (TTC) 13-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189054 HG983792 tRNA-Glu-TTC-13-1 +HGNC:35058 TRE-TTC14-1 tRNA-Glu (anticodon TTC) 14-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Glu-TTC-14-1 TRNAE34P "transfer RNA glutamic acid 34 (anticodon UUC) pseudogene|transfer RNA-Glu (TTC) 14-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189485 HG983793 NG_008543 tRNA-Glu-TTC-14-1 HGNC:35058 +HGNC:35057 TRE-TTC15-1 tRNA-Glu (TTC) 15-1 non-coding RNA RNA, transfer Approved 6q26 06q26 tRNA-Glu-TTC-15-1 TRNAE33P "transfer RNA glutamic acid 33 (anticodon UUC) pseudogene|transfer RNA-Glu (TTC) 15-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189484 HG983794 NG_011525 tRNA-Glu-TTC-15-1 HGNC:35057 +HGNC:34773 TRE-TTC16-1 tRNA-Glu (TTC) 16-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Glu-TTC-16-1 TRNAE16 "transfer RNA glutamic acid 16 (anticodon UUC)|transfer RNA-Glu (TTC) 16-1" 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189210 HG983795 tRNA-Glu-TTC-16-1 +HGNC:12266 TREH trehalase protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "TRE|TREA|MGC129621" "alpha,alpha-trehalase|alpha,alpha-trehalose glucohydrolase" trehalase (brush-border membrane glycoprotein) Glycoside hydrolases 1650 1999-09-07 2015-11-09 2015-11-09 11181 ENSG00000118094 OTTHUMG00000166409 uc031ygn.2 AB000824 NM_007180 "CCDS73402|CCDS73401" O43280 9427547 MGI:1926230 RGD:61831 275360 158077 3.2.1.28 HGNC:12266 "ENST00000264029.9|NM_007180.3" HGNC:12266 +HGNC:51907 TREHP1 trehalase pseudogene 1 pseudogene pseudogene Approved 11q23.3 11q23.3 2015-09-21 2015-09-21 768086 ENSG00000255239 OTTHUMG00000166410 NG_005770 PGOHUM00000290720 HGNC:51907 +HGNC:17760 TREM1 triggering receptor expressed on myeloid cells 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TREM-1|CD354" "CD molecules|V-set domain containing" "471|590" 2002-08-09 2014-11-19 54210 ENSG00000124731 OTTHUMG00000014674 uc003oqf.3 AF196329 NM_018643 "CCDS59499|CCDS56427|CCDS4854" Q9NP99 "11922939|10799849" MGI:1930005 RGD:1309467 605085 HGNC:17760 "ENST00000244709.9|NM_018643.5" +HGNC:17761 TREM2 triggering receptor expressed on myeloid cells 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TREM-2|Trem2a|Trem2b|Trem2c" triggering receptor expressed on myeloid cells 2a V-set domain containing 590 2002-08-09 2002-08-15 2021-05-26 54209 ENSG00000095970 OTTHUMG00000014671 uc003opy.4 AF213457 NM_018965 "CCDS64422|CCDS4852" Q9NZC2 "10799849|12080485" MGI:1913150 RGD:1309841 LRG_631|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_631.xml 605086 120249 HGNC:17761 "ENST00000373113.8|NM_018965.4" HGNC:17761 +HGNC:20434 TREML1 triggering receptor expressed on myeloid cells like 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TLT1|dJ238O23.3" TREM-like transcript 1 triggering receptor expressed on myeloid cells-like 1 V-set domain containing 590 2003-07-08 2015-11-23 2015-11-23 340205 ENSG00000161911 OTTHUMG00000016231 uc011duc.4 AF534822 NM_178174 "CCDS64420|CCDS4851|CCDS64421" Q86YW5 "12393607|12645956" MGI:1918576 RGD:1565175 609714 HGNC:20434 "ENST00000426005.7|NM_178174.4" +HGNC:21092 TREML2 triggering receptor expressed on myeloid cells like 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "FLJ13693|TLT2|dJ238O23.1" TREM-like transcript 2 C6orf76 "chromosome 6 open reading frame 76|triggering receptor expressed on myeloid cells-like 2" V-set domain containing 590 2003-05-19 2004-04-16 2015-11-23 2016-04-25 79865 ENSG00000112195 OTTHUMG00000016349 uc010jxm.3 AK023755 NM_024807 CCDS4853 Q5T2D2 12645956 MGI:2147038 RGD:1587039 609715 HGNC:21092 "ENST00000483722.2|NM_024807.4" +HGNC:30806 TREML3P triggering receptor expressed on myeloid cells like 3, pseudogene pseudogene pseudogene Approved 6p21.1 06p21.1 TLT3 TREM like transcript 3 TREML3 "triggering receptor expressed on myeloid cells-like 3|triggering receptor expressed on myeloid cells-like 3, pseudogene" 2004-04-14 2012-04-20 2015-11-23 2015-11-23 340206 ENSG00000184106 OTTHUMG00000177313 AF534825 NR_027256 12645956 609716 PGOHUM00000243171 HGNC:30806 +HGNC:30807 TREML4 triggering receptor expressed on myeloid cells like 4 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 TLT4 TREM like transcript 4 triggering receptor expressed on myeloid cells-like 4 V-set domain containing 590 2004-07-26 2015-11-23 2015-11-23 285852 ENSG00000188056 OTTHUMG00000016408 uc003oqc.3 AF534826 NM_198153 CCDS34446 Q6UXN2 12645956 MGI:1923239 RGD:1587021 614664 HGNC:30807 "ENST00000341495.7|NM_198153.3" +HGNC:30808 TREML5P triggering receptor expressed on myeloid cells like 5, pseudogene pseudogene pseudogene Approved 6p21.1 06p21.1 TLT5 TREM like transcript 5 "TREML2P|TREML2P1" "triggering receptor expressed on myeloid cells-like 2 pseudogene|triggering receptor expressed on myeloid cells-like 2 pseudogene 1|triggering receptor expressed on myeloid cells-like 5, pseudogene" 2004-04-14 2012-04-20 2015-11-23 2015-11-23 221438 ENSG00000225690 OTTHUMG00000154701 AF534827 NR_002794 12645956 PGOHUM00000243619 HGNC:30808 +HGNC:18273 TRERF1 transcriptional regulating factor 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "TReP-132|HSA277276|RAPA|dJ139D8.5" BCAR2 breast cancer anti-estrogen resistance 2 Myb/SANT domain containing 532 2003-11-26 2016-10-05 55809 ENSG00000124496 OTTHUMG00000014698 uc003osd.3 AF297872 NM_033502 "CCDS75455|CCDS4867" Q96PN7 11349124 MGI:2442086 RGD:1307167 610322 HGNC:18273 HGNC:18273 +HGNC:44307 TRERNA1 translation regulatory long non-coding RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 "ncRNA-a7|treRNA" translational regulatory long non-coding RNA LINC00651 long intergenic non-protein coding RNA 651 Long non-coding RNAs with non-systematic symbols 1992 2012-08-09 2013-08-28 2013-08-28 2014-10-22 100887755 ENSG00000231265 OTTHUMG00000032711 "AI968488|BX118093" NR_051976 "20887892|23974796" LOC100887755 TRERNA1 HGNC:44307 +HGNC:12269 TREX1 three prime repair exonuclease 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 DRN3 AGS1 Aicardi-Goutieres syndrome 1 "Exonucleases|SET complex" "544|1659" 2000-05-17 2021-05-26 11277 ENSG00000213689 OTTHUMG00000156205 uc062jhw.1 AF151105 NM_033629 "CCDS59451|CCDS2769" Q9NSU2 "10391904|10393201|16845398" MGI:1328317 RGD:1311998 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TREX1|LRG_282|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_282.xml" 606609 120255 HGNC:12269 "ENST00000625293.3|NM_033629.6" HGNC:12269 +HGNC:12270 TREX2 three prime repair exonuclease 2 protein-coding gene gene with protein product Approved Xq28 Xq28 Exonucleases 544 2000-05-17 2014-11-19 11219 ENSG00000183479 OTTHUMG00000159319 uc065bsy.1 AF151107 NM_080701 CCDS35437 Q9BQ50 10391904 MGI:1346343 RGD:1562245 300370 HGNC:12270 "ENST00000370231.3|NM_080701.4" +HGNC:34699 TRF-GAA1-1 tRNA-Phe (anticodon GAA) 1-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Phe-GAA-1-1 "TRNAF3|TRF-GAA1-5" "transfer RNA phenylalanine 3 (anticodon GAA)|transfer RNA-Phe (GAA) 1-5|transfer RNA-Phe (GAA) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189137 HG983964 tRNA-Phe-GAA-1-1 HGNC:34699 +HGNC:34817 TRF-GAA1-2 tRNA-Phe (anticodon GAA) 1-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Phe-GAA-1-2 "TRNAF7|TRF-GAA1-6" "transfer RNA phenylalanine 7 (anticodon GAA)|transfer RNA-Phe (GAA) 1-6|transfer RNA-Phe (GAA) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189254 HG983965 tRNA-Phe-GAA-1-2 HGNC:34817 +HGNC:34984 TRF-GAA1-3 tRNA-Phe (anticodon GAA) 1-3 non-coding RNA RNA, transfer Approved 11q12.1 11q12.1 tRNA-Phe-GAA-1-3 "TRNAF11|TRF-GAA1-1" "transfer RNA phenylalanine 11 (anticodon GAA)|transfer RNA-Phe (GAA) 1-1|transfer RNA-Phe (GAA) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189415 HG983960 tRNA-Phe-GAA-1-3 HGNC:34984 +HGNC:33259 TRF-GAA1-4 tRNA-Phe (anticodon GAA) 1-4 non-coding RNA RNA, transfer Approved 12q24.31 12q24.31 tRNA-Phe-GAA-1-4 "TRNAF2|TRF-GAA1-2" "transfer RNA phenylalanine 2 (anticodon GAA)|transfer RNA-Phe (GAA) 1-2|transfer RNA-Phe (GAA) 1-4" Cytoplasmic transfer RNAs 842 2007-02-01 2016-02-15 2019-04-04 2019-04-04 100009606 HG983961 1191278 tRNA-Phe-GAA-1-4 HGNC:33259 +HGNC:34814 TRF-GAA1-5 tRNA-Phe (anticodon GAA) 1-5 non-coding RNA RNA, transfer Approved 13q32.1 13q32.1 tRNA-Phe-GAA-1-5 "TRNAF6|TRF-GAA1-3" "transfer RNA phenylalanine 6 (anticodon GAA)|transfer RNA-Phe (GAA) 1-3|transfer RNA-Phe (GAA) 1-5" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189251 HG983962 tRNA-Phe-GAA-1-5 HGNC:34814 +HGNC:34873 TRF-GAA1-6 tRNA-Phe (anticodon GAA) 1-6 non-coding RNA RNA, transfer Approved 19p13.3 19p13.3 tRNA-Phe-GAA-1-6 "TRNAF10|TRF-GAA1-4" "transfer RNA phenylalanine 10 (anticodon GAA)|transfer RNA-Phe (GAA) 1-4|transfer RNA-Phe (GAA) 1-6" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189306 HG983963 tRNA-Phe-GAA-1-6 HGNC:34873 +HGNC:33255 TRF-GAA2-1 tRNA-Phe (anticodon GAA) 2-1 non-coding RNA RNA, transfer Approved 11q12.1 11q12.1 tRNA-Phe-GAA-2-1 TRNAF1 "transfer RNA phenylalanine 1 (anticodon GAA)|transfer RNA-Phe (GAA) 2-1|tRNA-Phe (GAA) 2-1" Cytoplasmic transfer RNAs 842 2007-02-01 2014-06-19 2019-04-04 2019-04-04 100009605 HG983966 3678837 tRNA-Phe-GAA-2-1 HGNC:33255 +HGNC:34732 TRF-GAA3-1 tRNA-Phe (anticodon GAA) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Phe-GAA-3-1 TRNAF5 "transfer RNA phenylalanine 5 (anticodon GAA)|transfer RNA-Phe (GAA) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189170 HG983967 tRNA-Phe-GAA-3-1 HGNC:34732 +HGNC:34859 TRF-GAA4-1 tRNA-Phe (anticodon GAA) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Phe-GAA-4-1 TRNAF9 "transfer RNA phenylalanine 9 (anticodon GAA)|transfer RNA-Phe (GAA) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189293 HG983968 tRNA-Phe-GAA-4-1 HGNC:34859 +HGNC:34707 TRF-GAA5-1 tRNA-Phe (anticodon GAA) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Phe-GAA-5-1 TRNAF4 "transfer RNA phenylalanine 4 (anticodon GAA)|transfer RNA-Phe (GAA) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189145 HG983969 tRNA-Phe-GAA-5-1 HGNC:34707 +HGNC:34825 TRF-GAA6-1 tRNA-Phe (anticodon GAA) 6-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Phe-GAA-6-1 TRNAF8 "transfer RNA phenylalanine 8 (anticodon GAA)|transfer RNA-Phe (GAA) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189262 HG983970 tRNA-Phe-GAA-6-1 HGNC:34825 +HGNC:34990 TRF-GAA7-1 tRNA-Phe (anticodon GAA) 7-1 pseudogene pseudogene Approved 6p22.1 06p22.1 tRNA-Phe-GAA-7-1 TRNAF12 transfer RNA phenylalanine 12 (anticodon GAA) Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189421 HG983971 tRNA-Phe-GAA-7-1 +HGNC:35016 TRF-GAA8-1 tRNA-Phe (anticodon GAA) 8-1 pseudogene pseudogene Approved 6q14.1 06q14.1 tRNA-Phe-GAA-8-1 TRNAF13P "transfer RNA phenylalanine 13 (anticodon GAA) pseudogene|transfer RNA-Phe (GAA) 8-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189446 HG983972 NG_008502 tRNA-Phe-GAA-8-1 HGNC:35016 +HGNC:35110 TRF-GAA9-1 tRNA-Phe (anticodon GAA) 9-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Phe-GAA-9-1 TRNAF17P "transfer RNA phenylalanine 17 (anticodon GAA) pseudogene|transfer RNA-Phe (GAA) 9-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189533 HG983973 NG_008591 tRNA-Phe-GAA-9-1 HGNC:35110 +HGNC:35072 TRF-GAA10-1 tRNA-Phe (anticodon GAA) 10-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Phe-GAA-10-1 TRNAF16P "transfer RNA phenylalanine 16 (anticodon GAA) pseudogene|transfer RNA-Phe (GAA) 10-1|tRNA-Phe (GAA) 10-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-04-04 2019-12-06 100189497 HG983974 NG_008555 tRNA-Phe-GAA-10-1 HGNC:35072 +HGNC:35045 TRF-GAA11-1 tRNA-Phe (anticodon GAA) 11-1 pseudogene pseudogene Approved 6p22.1 06p22.1 tRNA-Phe-GAA-11-1 TRNAF15P "transfer RNA phenylalanine 15 (anticodon GAA) pseudogene|transfer RNA-Phe (GAA) 11-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189472 HG983975 NG_008530 tRNA-Phe-GAA-11-1 HGNC:35045 +HGNC:35044 TRF-GAA12-1 tRNA-Phe (anticodon GAA) 12-1 pseudogene pseudogene Approved 8q24.13 08q24.13 tRNA-Phe-GAA-12-1 TRNAF14P "transfer RNA phenylalanine 14 (anticodon GAA) pseudogene|transfer RNA-Phe (GAA) 12-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189471 HG983976 NG_008529 tRNA-Phe-GAA-12-1 HGNC:35044 +HGNC:12271 TRG T cell receptor gamma locus protein-coding gene gene with protein product Approved 7p14 07p14 "T-cell antigen receptor, gamma polypeptide|T-cell receptor, gamma cluster|T-cell rearranging gene, gamma" "TCRG|TRG@" TCRG, TRG@ T cell receptor gamma locus at 7p14 375 1986-01-01 2013-03-05 2017-12-06 2017-12-06 6965 NG_001336 "2526744|3102973" 330902 HGNC:12271 +HGNC:48974 TRG-AS1 T cell receptor gamma locus antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 TRG antisense RNA 1 Antisense RNAs 1987 2013-07-23 2017-12-06 2019-06-19 100506776 ENSG00000281103 OTTHUMG00000189585 NR_040085 31196742 TRG-AS1 HGNC:48974 +HGNC:38580 TRG-CCC1-1 tRNA-Gly (anticodon CCC) 1-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Gly-CCC-1-1 TRNAG37 "transfer RNA glycine 37 (anticodon CCC)|transfer RNA-Gly (CCC) 1-1" Cytoplasmic transfer RNAs 842 2010-06-23 2014-06-19 2019-04-04 2020-04-20 7195 HG983796 189911 tRNA-Gly-CCC-1-1 +HGNC:34864 TRG-CCC1-2 tRNA-Gly (anticodon CCC) 1-2 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Gly-CCC-1-2 TRNAG28 "transfer RNA glycine 28 (anticodon CCC)|transfer RNA-Gly (CCC) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189298 HG983797 tRNA-Gly-CCC-1-2 HGNC:34864 +HGNC:34794 TRG-CCC2-1 tRNA-Gly (anticodon CCC) 2-1 non-coding RNA RNA, transfer Approved 2p13.3 02p13.3 tRNA-Gly-CCC-2-1 "TRNAG22|TRG-CCC2-2" "transfer RNA glycine 22 (anticodon CCC)|transfer RNA-Gly (CCC) 2-2|transfer RNA-Gly (CCC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189231 HG983799 tRNA-Gly-CCC-2-1 HGNC:34794 +HGNC:14183 TRG-CCC2-2 tRNA-Gly (anticodon CCC) 2-2 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Gly-CCC-2-2 "TRG4|TRNAG4|TRG-CCC2-1" "tRNA glycine 4|transfer RNA glycine 4 (anticodon CCC)|transfer RNA-Gly (CCC) 2-1|transfer RNA-Gly (CCC) 2-2" Cytoplasmic transfer RNAs 842 2000-12-21 2016-02-15 2019-04-04 2019-04-04 64717 HG983798 tRNA-Gly-CCC-2-2 HGNC:14183 +HGNC:34841 TRG-CCC3-1 tRNA-Gly (anticodon CCC) 3-1 non-coding RNA RNA, transfer Approved 17p11.2 17p11.2 tRNA-Gly-CCC-3-1 TRNAG26 "transfer RNA glycine 26 (anticodon CCC)|transfer RNA-Gly (CCC) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189277 HG983800 tRNA-Gly-CCC-3-1 HGNC:34841 +HGNC:35059 TRG-CCC4-1 tRNA-Gly (CCC) 4-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Gly-CCC-4-1 "TRNAV35P|TRNAG36" "transfer RNA valine 35 (anticodon CAC) pseudogene|transfer RNA glycine 36 (anticodon CCC)|transfer RNA-Gly (CCC) 4-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2020-02-13 107985759 HG983801 tRNA-Gly-CCC-4-1 HGNC:35059 +HGNC:34604 TRG-CCC5-1 tRNA-Gly (CCC) 5-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Gly-CCC-5-1 TRNAG10 "transfer RNA glycine 10 (anticodon CCC)|transfer RNA-Gly (CCC) 5-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189045 HG983802 tRNA-Gly-CCC-5-1 HGNC:34604 +HGNC:35073 TRG-CCC6-1 tRNA-Gly (CCC) 6-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Gly-CCC-6-1 TRNAG34P "transfer RNA glycine 34 (anticodon CCC) pseudogene|transfer RNA-Gly (CCC) 6-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2020-02-13 107985748 HG983803 tRNA-Gly-CCC-6-1 HGNC:35073 +HGNC:35030 TRG-CCC7-1 tRNA-Gly (CCC) 7-1 non-coding RNA RNA, transfer Approved 2p25.1 02p25.1 tRNA-Gly-CCC-7-1 TRNAG32P "transfer RNA glycine 32 (anticodon CCC) pseudogene|transfer RNA-Gly (CCC) 7-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189458 HG983804 NG_008515 tRNA-Gly-CCC-7-1 HGNC:35030 +HGNC:50798 TRG-CCC8-1 tRNA-Gly (anticodon CCC) 8-1 pseudogene pseudogene Approved 1q21.1 01q21.1 tRNA-Gly-CCC-8-1 transfer RNA-Gly (CCC) 8-1 Cytoplasmic transfer RNA pseudogenes 1681 2014-07-05 2019-05-01 2019-05-01 103539958 HG983805 tRNA-Gly-CCC-8-1 +HGNC:34934 TRG-GCC1-1 tRNA-Gly (anticodon GCC) 1-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-GCC-1-1 TRNAG30 "transfer RNA glycine 30 (anticodon GCC)|transfer RNA-Gly (GCC) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189366 HG983806 tRNA-Gly-GCC-1-1 HGNC:34934 +HGNC:34815 TRG-GCC1-2 tRNA-Gly (anticodon GCC) 1-2 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-GCC-1-2 TRNAG23 "transfer RNA glycine 23 (anticodon GCC)|transfer RNA-Gly (GCC) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189252 HG983807 tRNA-Gly-GCC-1-2 HGNC:34815 +HGNC:34793 TRG-GCC1-3 tRNA-Gly (anticodon GCC) 1-3 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-GCC-1-3 TRNAG21 "transfer RNA glycine 21 (anticodon GCC)|transfer RNA-Gly (GCC) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189230 HG983808 tRNA-Gly-GCC-1-3 HGNC:34793 +HGNC:34722 TRG-GCC1-4 tRNA-Gly (anticodon GCC) 1-4 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-GCC-1-4 TRNAG15 "transfer RNA glycine 15 (anticodon GCC)|transfer RNA-Gly (GCC) 1-4" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189160 HG983809 tRNA-Gly-GCC-1-4 HGNC:34722 +HGNC:34850 TRG-GCC1-5 tRNA-Gly (anticodon GCC) 1-5 non-coding RNA RNA, transfer Approved 21q21.1 21q21.1 tRNA-Gly-GCC-1-5 TRNAG27 "transfer RNA glycine 27 (anticodon GCC)|transfer RNA-Gly (GCC) 1-5" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189284 HG983810 tRNA-Gly-GCC-1-5 HGNC:34850 +HGNC:34948 TRG-GCC2-1 tRNA-Gly (anticodon GCC) 2-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-GCC-2-1 TRNAG31 "transfer RNA glycine 31 (anticodon GCC)|transfer RNA-Gly (GCC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189380 HG983811 tRNA-Gly-GCC-2-1 HGNC:34948 +HGNC:34771 TRG-GCC2-2 tRNA-Gly (anticodon GCC) 2-2 non-coding RNA RNA, transfer Approved 2q24.1 02q24.1 tRNA-Gly-GCC-2-2 "TRNAG19|TRG-GCC2-5" "transfer RNA glycine 19 (anticodon GCC)|transfer RNA-Gly (GCC) 2-5|transfer RNA-Gly (GCC) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189208 HG983815 tRNA-Gly-GCC-2-2 HGNC:34771 +HGNC:34881 TRG-GCC2-3 tRNA-Gly (anticodon GCC) 2-3 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Gly-GCC-2-3 "TRNAG29|TRG-GCC2-6" "transfer RNA glycine 29 (anticodon GCC)|transfer RNA-Gly (GCC) 2-6|transfer RNA-Gly (GCC) 2-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189314 HG983816 tRNA-Gly-GCC-2-3 HGNC:34881 +HGNC:34533 TRG-GCC2-4 tRNA-Gly (anticodon GCC) 2-4 non-coding RNA RNA, transfer Approved 16q22.1 16q22.1 tRNA-Gly-GCC-2-4 "TRNAG6|TRG-GCC2-2" "transfer RNA glycine 6 (anticodon GCC)|transfer RNA-Gly (GCC) 2-2|transfer RNA-Gly (GCC) 2-4" Cytoplasmic transfer RNAs 842 2008-08-20 2016-02-15 2019-04-04 2019-04-04 100188985 HG983812 tRNA-Gly-GCC-2-4 HGNC:34533 +HGNC:34725 TRG-GCC2-5 tRNA-Gly (anticodon GCC) 2-5 non-coding RNA RNA, transfer Approved 16q22.1 16q22.1 tRNA-Gly-GCC-2-5 "TRNAG16|TRG-GCC2-3" "transfer RNA glycine 16 (anticodon GCC)|transfer RNA-Gly (GCC) 2-3|transfer RNA-Gly (GCC) 2-5" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189163 HG983813 tRNA-Gly-GCC-2-5 HGNC:34725 +HGNC:12273 TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Gly-GCC-2-6 "TRG2|TRNAG2|TRG-GCC2-4" "tRNA glycine 2|transfer RNA glycine 2|transfer RNA glycine 2 (anticodon GCC)|transfer RNA-Gly (GCC) 2-4|transfer RNA-Gly (GCC) 2-6" Cytoplasmic transfer RNAs 842 1991-08-18 2016-02-15 2019-04-04 2019-04-04 7196 HG983814 2066114 610407 tRNA-Gly-GCC-2-6 HGNC:12273 +HGNC:12282 TRG-GCC3-1 tRNA-Gly (anticodon GCC) 3-1 non-coding RNA RNA, transfer Approved 16q22.1 16q22.1 tRNA-Gly-GCC-3-1 "TRGL1|TRG5|TRNAG5" "tRNA glycine (GCC)-like 1|tRNA glycine 5 (anticodon GCC)|transfer RNA glycine 5 (anticodon GCC)|transfer RNA-Gly (GCC) 3-1" Cytoplasmic transfer RNAs 842 1990-02-24 2014-06-19 2019-04-04 2019-04-04 7198 HG983817 tRNA-Gly-GCC-3-1 HGNC:12282 +HGNC:34838 TRG-GCC4-1 tRNA-Gly (anticodon GCC) 4-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-GCC-4-1 TRNAG25 "transfer RNA glycine 25 (anticodon GCC)|transfer RNA-Gly (GCC) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189274 HG983818 tRNA-Gly-GCC-4-1 HGNC:34838 +HGNC:34783 TRG-GCC5-1 tRNA-Gly (anticodon GCC) 5-1 non-coding RNA RNA, transfer Approved 16q22.1 16q22.1 tRNA-Gly-GCC-5-1 TRNAG20 "transfer RNA glycine 20 (anticodon GCC)|transfer RNA-Gly (GCC) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189220 HG983819 tRNA-Gly-GCC-5-1 HGNC:34783 +HGNC:34641 TRG-GCC6-1 tRNA-Gly (GCC) 6-1 non-coding RNA RNA, transfer Approved 6q24.2 06q24.2 tRNA-Gly-GCC-6-1 TRNAG12 "transfer RNA glycine 12 (anticodon GCC)|transfer RNA-Gly (GCC) 6-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-16 2018-11-16 100189081 HG983820 tRNA-Gly-GCC-6-1 +HGNC:12274 TRG-TCC1-1 tRNA-Gly (anticodon TCC) 1-1 non-coding RNA RNA, transfer Approved 19p13.3 19p13.3 tRNA-Gly-TCC-1-1 "TRG3|TRNAG3" "tRNA glycine (UCC) 3|tRNA glycine 3 (anticodon UCC)|transfer RNA glycine 3 (anticodon UCC)|transfer RNA-Gly (TCC) 1-1" Cytoplasmic transfer RNAs 842 1993-05-24 2014-06-19 2019-04-04 2019-04-04 7197 HG983821 1457046 615303 tRNA-Gly-TCC-1-1 HGNC:12274 +HGNC:34623 TRG-TCC2-1 tRNA-Gly (anticodon TCC) 2-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-TCC-2-1 TRNAG11 "transfer RNA glycine 11 (anticodon UCC)|transfer RNA-Gly (TCC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189064 HG983822 tRNA-Gly-TCC-2-1 HGNC:34623 +HGNC:34823 TRG-TCC2-2 tRNA-Gly (anticodon TCC) 2-2 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-TCC-2-2 TRNAG24 "transfer RNA glycine 24 (anticodon UCC)|transfer RNA-Gly (TCC) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189260 HG983823 tRNA-Gly-TCC-2-2 HGNC:34823 +HGNC:34703 TRG-TCC2-3 tRNA-Gly (anticodon TCC) 2-3 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-TCC-2-3 TRNAG13 "transfer RNA glycine 13 (anticodon UCC)|transfer RNA-Gly (TCC) 2-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189141 HG983824 tRNA-Gly-TCC-2-3 HGNC:34703 +HGNC:34751 TRG-TCC2-4 tRNA-Gly (anticodon TCC) 2-4 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-TCC-2-4 TRNAG17 "transfer RNA glycine 17 (anticodon UCC)|transfer RNA-Gly (TCC) 2-4" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189188 HG983825 tRNA-Gly-TCC-2-4 HGNC:34751 +HGNC:34598 TRG-TCC2-5 tRNA-Gly (anticodon TCC) 2-5 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-TCC-2-5 TRNAG9 "transfer RNA glycine 9 (anticodon UCC)|transfer RNA-Gly (TCC) 2-5" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189039 HG983826 tRNA-Gly-TCC-2-5 HGNC:34598 +HGNC:34570 TRG-TCC2-6 tRNA-Gly (anticodon TCC) 2-6 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-TCC-2-6 TRNAG8 "transfer RNA glycine 8 (anticodon UCC)|transfer RNA-Gly (TCC) 2-6" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189011 HG983827 tRNA-Gly-TCC-2-6 HGNC:34570 +HGNC:34769 TRG-TCC3-1 tRNA-Gly (anticodon TCC) 3-1 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Gly-TCC-3-1 TRNAG18 "transfer RNA glycine 18 (anticodon UCC)|transfer RNA-Gly (TCC) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189206 HG983828 tRNA-Gly-TCC-3-1 HGNC:34769 +HGNC:34554 TRG-TCC4-1 tRNA-Gly (anticodon TCC) 4-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Gly-TCC-4-1 TRNAG7 "transfer RNA glycine 7 (anticodon UCC)|transfer RNA-Gly (TCC) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100188997 HG983829 tRNA-Gly-TCC-4-1 HGNC:34554 +HGNC:35032 TRG-TCC5-1 tRNA-Gly (anticodon TCC) 5-1 pseudogene pseudogene Approved 18q21.31 18q21.31 tRNA-Gly-TCC-5-1 TRNAG33P "transfer RNA glycine 33 (anticodon UCC) pseudogene|transfer RNA-Gly (TCC) 5-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189460 HG983830 NG_008517 tRNA-Gly-TCC-5-1 HGNC:35032 +HGNC:35086 TRG-TCC6-1 tRNA-Gly (anticodon TCC) 6-1 pseudogene pseudogene Approved 18q21.31 18q21.31 tRNA-Gly-TCC-6-1 TRNAG35P "transfer RNA glycine 35 (anticodon UCC) pseudogene|transfer RNA-Gly (TCC) 6-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189511 HG983831 NG_008569 tRNA-Gly-TCC-6-1 HGNC:35086 +HGNC:12275 TRGC1 T cell receptor gamma constant 1 other T cell receptor gene Approved 7p14.1 07p14.1 C1 T-cell receptor, gamma, constant region C1 TCRGC1 TCRGC1 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6966 ENSG00000211689 OTTHUMG00000155219 uc064cxn.1 M14996 NG_001336 P0CF51 2879283 MGI:98633 186970 TRGC1 HGNC:12275 +HGNC:12276 TRGC2 T cell receptor gamma constant 2 other T cell receptor gene Approved 7p14.1 07p14.1 "TRGC2(2X)|TRGC2(3X)" T-cell receptor, gamma, constant region C2 TCRGC2 TCRGC2 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6967 ENSG00000227191 OTTHUMG00000155215 uc064cxk.1 M15002 NG_001336 P03986 3458221 MGI:98633 615450 TRGC2 HGNC:12276 +HGNC:12277 TRGJ1 T cell receptor gamma joining 1 other T cell receptor gene Approved 7p14.1 07p14.1 J1 T-cell receptor, gamma, joining segment J1 TCRGJ1 TCRGJ1 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6968 ENSG00000211690 OTTHUMG00000155214 uc064cxr.1 M12960 NG_001336 A0A075B6S0 3003579 TRGJ1 HGNC:12277 +HGNC:12278 TRGJ2 T cell receptor gamma joining 2 other T cell receptor gene Approved 7p14.1 07p14.1 J2 T-cell receptor gamma joining segment J2 TCRGJ2 TCRGJ2 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6969 ENSG00000211687 OTTHUMG00000155217 uc064cxl.1 M12961 NG_001336 3003579 TRGJ2 HGNC:12278 +HGNC:12279 TRGJP T cell receptor gamma joining P other T cell receptor gene Approved 7p14.1 07p14.1 JP T-cell receptor, gamma, joining segment JP TCRGJP TCRGJP T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6970 ENSG00000211691 OTTHUMG00000155220 uc064cxs.1 M12950 NG_001336 2938743 TRGJP HGNC:12279 +HGNC:12280 TRGJP1 T cell receptor gamma joining P1 other T cell receptor gene Approved 7p14.1 07p14.1 JP1 "T-cell receptor gamma joining segment JP1|T-cell receptor gamma joining P1" TCRGJP1 TCRGJP1 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6971 ENSG00000211692 OTTHUMG00000155226 uc064cxt.1 X08084 NG_001336 2969332 TRGJP1 HGNC:12280 +HGNC:12281 TRGJP2 T cell receptor gamma joining P2 other T cell receptor gene Approved 7p14.1 07p14.1 JP2 T-cell receptor, gamma, joining segment JP2 TCRGJP2 TCRGJP2 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6972 ENSG00000211688 OTTHUMG00000155222 uc064cxm.1 M16016 NG_001336 2951442 TRGJP2 HGNC:12281 +HGNC:12284 TRGV1 T cell receptor gamma variable 1 (non-functional) other T cell receptor gene Approved 7p14.1 07p14.1 V1S1P TCRGV1 TCRGV1 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6973 ENSG00000211701 OTTHUMG00000155097 uc064cyd.1 M12949 NG_001336 A0A0A0MS02 "2938743|2969332" TRGV1 HGNC:12284 +HGNC:12287 TRGV2 T cell receptor gamma variable 2 other T cell receptor gene Approved 7p14.1 07p14.1 VIS2 T-cell receptor, gamma, variable region V2 TCRGV2 TCRGV2 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6974 ENSG00000233306 OTTHUMG00000155105 uc064cyc.1 M13429 NG_001336 A0A075B6R0 "2938743|2969332" TRGV2 HGNC:12287 +HGNC:12288 TRGV3 T cell receptor gamma variable 3 other T cell receptor gene Approved 7p14.1 07p14.1 V1S3 T-cell receptor, gamma, variable region V3 TCRGV3 TCRGV3 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6976 ENSG00000211699 OTTHUMG00000155102 uc064cyb.1 M13430 NG_001336 P03979 "2938743|2969332" TRGV3 HGNC:12288 +HGNC:12289 TRGV4 T cell receptor gamma variable 4 other T cell receptor gene Approved 7p14.1 07p14.1 V1S4 T-cell receptor, gamma, variable region V4 TCRGV4 TCRGV4 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6977 ENSG00000211698 OTTHUMG00000155099 uc064cya.1 X15272 NG_001336 A0A0C4DH28 2969332 TRGV4 HGNC:12289 +HGNC:12290 TRGV5 T cell receptor gamma variable 5 other T cell receptor gene Approved 7p14.1 07p14.1 V1S5 T-cell receptor, gamma, variable region V5 TCRGV5 TCRGV5 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6978 ENSG00000211697 OTTHUMG00000155101 uc022aca.2 M36286 NG_001336 A0A0B4J1U4 "2902186|2969332" TRGV5 HGNC:12290 +HGNC:12291 TRGV5P T cell receptor gamma variable 5P (pseudogene) pseudogene T cell receptor pseudogene Approved 7p14.1 07p14.1 V1S5P T-cell receptor, gamma, variable region V5P (pseudogene) TCRGV5P TCRGV5P T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6979 ENSG00000228668 OTTHUMG00000155095 M13431 NG_001336 "2938743|2969332" PGOHUM00000232657 TRGV5P HGNC:12291 +HGNC:12292 TRGV6 T cell receptor gamma variable 6 (pseudogene) pseudogene T cell receptor pseudogene Approved 7p14.1 07p14.1 "V1S5P|TCRGV5P" T-cell receptor, gamma, variable region V5P (pseudogene) TCRGV6 TCRGV6 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6980 ENSG00000226212 OTTHUMG00000155096 M13432 NG_001336 "2938743|2969332" PGOHUM00000232656 TRGV6 HGNC:12292 +HGNC:12293 TRGV7 T cell receptor gamma variable 7 (pseudogene) pseudogene T cell receptor pseudogene Approved 7p14.1 07p14.1 V1S7P T-cell receptor, gamma, variable region V7 (pseudogene) TCRGV7 TCRGV7 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6981 ENSG00000249978 OTTHUMG00000155100 M13433 NG_001336 "2938743|2969332" PGOHUM00000250858 TRGV7 HGNC:12293 +HGNC:12294 TRGV8 T cell receptor gamma variable 8 other T cell receptor gene Approved 7p14.1 07p14.1 V1S8 T-cell receptor, gamma, variable region V8 TCRGV8 TCRGV8 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6982 ENSG00000211696 OTTHUMG00000155098 uc064cxx.1 M13434 NG_001336 A0A0C4DH27 TRGV8 HGNC:12294 +HGNC:12295 TRGV9 T cell receptor gamma variable 9 other T cell receptor gene Approved 7p14.1 07p14.1 V2 T-cell receptor, gamma, variable region V9 TCRGV9 TCRGV9 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6983 ENSG00000211695 OTTHUMG00000155218 uc064cxv.1 X07205 NG_001336 Q99603 "2969332|2806544" TRGV9 HGNC:12295 +HGNC:12285 TRGV10 T cell receptor gamma variable 10 (non-functional) other T cell receptor gene Approved 7p14.1 07p14.1 V3P T-cell receptor, gamma, variable region V10 TCRGV10 TCRGV10 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6984 ENSG00000211694 OTTHUMG00000155223 uc003tgl.4 X07206 NG_001336 A0A0A0MS01 2969332 TRGV10 HGNC:12285 +HGNC:12286 TRGV11 T cell receptor gamma variable 11 (non-functional) other T cell receptor gene Approved 7p14.1 07p14.1 V4P T-cell receptor, gamma, variable region V11 TCRGV11 TCRGV11 T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6985 ENSG00000211693 OTTHUMG00000155221 uc064cxu.1 Y11227 NG_001336 A0A075B6L2 TRGV11 HGNC:12286 +HGNC:12296 TRGVA T cell receptor gamma variable A (pseudogene) pseudogene T cell receptor pseudogene Approved 7p14.1 07p14.1 V5P T-cell receptor, gamma, variable region VA (pseudogene) TCRGVA TCRGVA T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6986 ENSG00000225992 OTTHUMG00000155224 X07208 NG_001336 2969332 TRGVA HGNC:12296 +HGNC:12297 TRGVB T cell receptor gamma variable B (pseudogene) pseudogene T cell receptor pseudogene Approved 7p14.1 07p14.1 V6P T-cell receptor, gamma, variable region VB (pseudogene) TCRGVB TCRGVB T cell receptor gamma locus at 7p14 375 1989-05-30 2017-12-06 2017-12-06 6987 ENSG00000231202 OTTHUMG00000155216 X07209 NG_001336 2969332 TRGVB HGNC:12297 +HGNC:12298 TRH thyrotropin releasing hormone protein-coding gene gene with protein product Approved 3q22.1 03q22.1 prothyroliberin thyrotropin-releasing hormone "Receptor ligands|Neuropeptides" "542|1902" 1991-06-04 2016-01-27 2016-10-24 7200 ENSG00000170893 OTTHUMG00000159634 uc003enc.5 NM_007117 CCDS3066 P20396 "2126343|1900134" MGI:98823 RGD:3903 613879 120259 ligandId:2139 HGNC:12298 "ENST00000302649.4|NM_007117.5" +HGNC:34535 TRH-GTG1-1 tRNA-His (anticodon GTG) 1-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-His-GTG-1-1 TRNAH4 "transfer RNA histidine 4 (anticodon GUG)|transfer RNA-His (GTG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-21 2014-06-19 2019-04-04 2019-04-04 100188991 HG983832 tRNA-His-GTG-1-1 HGNC:34535 +HGNC:34902 TRH-GTG1-2 tRNA-His (anticodon GTG) 1-2 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-His-GTG-1-2 TRNAH10 "transfer RNA histidine 10 (anticodon GUG)|transfer RNA-His (GTG) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189334 HG983833 tRNA-His-GTG-1-2 HGNC:34902 +HGNC:34874 TRH-GTG1-3 tRNA-His (anticodon GTG) 1-3 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-His-GTG-1-3 TRNAH9 "transfer RNA histidine 9 (anticodon GUG)|transfer RNA-His (GTG) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189307 HG983834 tRNA-His-GTG-1-3 HGNC:34874 +HGNC:34736 TRH-GTG1-4 tRNA-His (anticodon GTG) 1-4 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-His-GTG-1-4 TRNAH7 "transfer RNA histidine 7 (anticodon GUG)|transfer RNA-His (GTG) 1-4" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189174 HG983835 tRNA-His-GTG-1-4 HGNC:34736 +HGNC:34538 TRH-GTG1-5 tRNA-His (anticodon GTG) 1-5 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-His-GTG-1-5 "TRNAH3|TRH-GTG1-8" "transfer RNA histidine 3 (anticodon GUG)|transfer RNA-His (GTG) 1-8|transfer RNA-His (GTG) 1-5" Cytoplasmic transfer RNAs 842 2008-09-03 2016-02-15 2019-04-04 2019-04-04 100188987 HG983839 tRNA-His-GTG-1-5 HGNC:34538 +HGNC:33260 TRH-GTG1-6 tRNA-His (anticodon GTG) 1-6 non-coding RNA RNA, transfer Approved 9p22.3 09p22.3 tRNA-His-GTG-1-6 "TRNAH5|TRH-GTG1-9" "transfer RNA histidine 5 (anticodon GUG)|transfer RNA-His (GTG) 1-9|transfer RNA-His (GTG) 1-6" Cytoplasmic transfer RNAs 842 2007-02-01 2016-02-15 2019-04-04 2019-04-04 100009607 HG983840 6188108 tRNA-His-GTG-1-6 HGNC:33260 +HGNC:34536 TRH-GTG1-7 tRNA-His (anticodon GTG) 1-7 non-coding RNA RNA, transfer Approved 15q21.1 15q21.1 tRNA-His-GTG-1-7 "TRNAH1|TRH-GTG1-5" "transfer RNA histidine 1 (anticodon GUG)|transfer RNA-His (GTG) 1-5|transfer RNA-His (GTG) 1-7" Cytoplasmic transfer RNAs 842 2008-09-03 2016-02-15 2019-04-04 2019-04-04 100188986 HG983836 tRNA-His-GTG-1-7 HGNC:34536 +HGNC:34537 TRH-GTG1-8 tRNA-His (anticodon GTG) 1-8 non-coding RNA RNA, transfer Approved 15q21.1 15q21.1 tRNA-His-GTG-1-8 "TRNAH2|TRH-GTG1-6" "transfer RNA histidine 2 (anticodon GUG)|transfer RNA-His (GTG) 1-6|transfer RNA-His (GTG) 1-8" Cytoplasmic transfer RNAs 842 2008-09-03 2016-02-15 2019-04-04 2019-04-04 100188988 HG983837 tRNA-His-GTG-1-8 HGNC:34537 +HGNC:34624 TRH-GTG1-9 tRNA-His (anticodon GTG) 1-9 non-coding RNA RNA, transfer Approved 15q21.1 15q21.1 tRNA-His-GTG-1-9 "TRNAH6|TRH-GTG1-7" "transfer RNA histidine 6 (anticodon GUG)|transfer RNA-His (GTG) 1-7|transfer RNA-His (GTG) 1-9" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189065 HG983838 tRNA-His-GTG-1-9 HGNC:34624 +HGNC:34918 TRH-GTG2-1 tRNA-His (GTG) 2-1 non-coding RNA RNA, transfer Approved 1 01 tRNA-His-GTG-2-1 TRNAH11 "transfer RNA histidine 11 (anticodon GUG)|transfer RNA-His (GTG) 2-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-20 2018-11-20 100189350 HG983841 tRNA-His-GTG-2-1 +HGNC:34805 TRH-GTG3-1 tRNA-His (anticodon GTG) 3-1 non-coding RNA RNA, transfer Approved 3q24 03q24 tRNA-His-GTG-3-1 TRNAH8 "transfer RNA histidine 8 (anticodon GUG)|transfer RNA-His (GTG) 3-1" 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189242 HG983842 tRNA-His-GTG-3-1 +HGNC:30748 TRHDE thyrotropin releasing hormone degrading enzyme protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "PGPEP2|TRH-DE|PAP-II" "pyroglutamyl-peptidase II|pyroglutamyl aminopeptidase II|TRH-specific aminopeptidase" thyrotropin-releasing hormone degrading enzyme M1 metallopeptidases 1437 2005-05-10 2005-08-09 2016-02-01 2016-02-01 29953 ENSG00000072657 OTTHUMG00000169642 uc001sxa.4 AF126372 NM_013381 CCDS9004 Q9UKU6 "10491199|12975309" MGI:2384311 RGD:728895 606950 objectId:1577 3.4.19.6 HGNC:30748 "ENST00000261180.10|NM_013381.3" +HGNC:27471 TRHDE-AS1 TRHDE antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q21.1 12q21.1 TRHDE antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-18 283392 ENSG00000236333 OTTHUMG00000150370 uc021rat.2 BC040230 NR_026836 TRHDE-AS1 HGNC:27471 +HGNC:12299 TRHR thyrotropin releasing hormone receptor protein-coding gene gene with protein product Approved 8q23.1 08q23.1 thyrotropin-releasing hormone receptor Peptide receptors 220 1993-11-08 2016-02-01 2021-05-26 7201 ENSG00000174417 OTTHUMG00000164910 uc064pnj.1 NM_003301 CCDS6311 P34981 8128317 MGI:98824 RGD:3904 188545 120261 objectId:363 HGNC:12299 "ENST00000518632.2|NM_003301.7" HGNC:12299 +HGNC:34812 TRI-AAT1-1 tRNA-Ile (anticodon AAT) 1-1 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Ile-AAT-1-1 TRNAI12 "transfer RNA isoleucine 12 (anticodon AAU)|transfer RNA-Ile (AAT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189249 HG983843 tRNA-Ile-AAT-1-1 HGNC:34812 +HGNC:34630 TRI-AAT2-1 tRNA-Ile (anticodon AAT) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ile-AAT-2-1 TRNAI4 "transfer RNA isoleucine 4 (anticodon AAU)|transfer RNA-Ile (AAT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189071 HG983844 tRNA-Ile-AAT-2-1 HGNC:34630 +HGNC:34776 TRI-AAT3-1 tRNA-Ile (anticodon AAT) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ile-AAT-3-1 TRNAI11 "transfer RNA isoleucine 11 (anticodon AAU)|transfer RNA-Ile (AAT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189213 HG983845 tRNA-Ile-AAT-3-1 HGNC:34776 +HGNC:34961 TRI-AAT4-1 tRNA-Ile (anticodon AAT) 4-1 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Ile-AAT-4-1 TRNAI24 "transfer RNA isoleucine 24 (anticodon AAU)|transfer RNA-Ile (AAT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189393 HG983846 tRNA-Ile-AAT-4-1 HGNC:34961 +HGNC:34715 TRI-AAT5-1 tRNA-Ile (anticodon AAT) 5-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ile-AAT-5-1 "TRNAI9|TRI-AAT5-3" "transfer RNA isoleucine 9 (anticodon AAU)|transfer RNA-Ile (AAT) 5-3|transfer RNA-Ile (AAT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-05-08 100189153 HG983849 tRNA-Ile-AAT-5-1 HGNC:34715 +HGNC:34904 TRI-AAT5-2 tRNA-Ile (anticodon AAT) 5-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ile-AAT-5-2 "TRNAI20|TRI-AAT5-4" "transfer RNA isoleucine 20 (anticodon AAU)|transfer RNA-Ile (AAT) 5-4|transfer RNA-Ile (AAT) 5-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189336 HG983850 tRNA-Ile-AAT-5-2 HGNC:34904 +HGNC:34877 TRI-AAT5-3 tRNA-Ile (anticodon AAT) 5-3 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ile-AAT-5-3 "TRNAI17|TRI-AAT5-5" "transfer RNA isoleucine 17 (anticodon AAU)|transfer RNA-Ile (AAT) 5-5|transfer RNA-Ile (AAT) 5-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189310 HG983851 tRNA-Ile-AAT-5-3 HGNC:34877 +HGNC:34839 TRI-AAT5-4 tRNA-Ile (anticodon AAT) 5-4 non-coding RNA RNA, transfer Approved 14q32.31 14q32.31 tRNA-Ile-AAT-5-4 "TRNAI15|TRI-AAT5-1" "transfer RNA isoleucine 15 (anticodon AAU)|transfer RNA-Ile (AAT) 5-1|transfer RNA-Ile (AAT) 5-4" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189275 HG983847 tRNA-Ile-AAT-5-4 HGNC:34839 +HGNC:34955 TRI-AAT5-5 tRNA-Ile (anticodon AAT) 5-5 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Ile-AAT-5-5 "TRNAI23|TRI-AAT5-2" "transfer RNA isoleucine 23 (anticodon AAU)|transfer RNA-Ile (AAT) 5-2|transfer RNA-Ile (AAT) 5-5" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189387 HG983848 tRNA-Ile-AAT-5-5 HGNC:34955 +HGNC:34940 TRI-AAT6-1 tRNA-Ile (anticodon AAT) 6-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ile-AAT-6-1 TRNAI22 "transfer RNA isoleucine 22 (anticodon AAU)|transfer RNA-Ile (AAT) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189372 HG983852 tRNA-Ile-AAT-6-1 HGNC:34940 +HGNC:34710 TRI-AAT7-1 tRNA-Ile (anticodon AAT) 7-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ile-AAT-7-1 TRNAI8 "transfer RNA isoleucine 8 (anticodon AAU)|transfer RNA-Ile (AAT) 7-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2020-02-13 100189401 HG983853 tRNA-Ile-AAT-7-1 +HGNC:34970 TRI-AAT7-2 tRNA-Ile (anticodon AAT) 7-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ile-AAT-7-2 TRNAI25 "transfer RNA isoleucine 25 (anticodon AAU)|transfer RNA-Ile (AAT) 7-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2020-02-13 107986683 HG983854 tRNA-Ile-AAT-7-2 HGNC:34970 +HGNC:34656 TRI-AAT8-1 tRNA-Ile (anticodon AAT) 8-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ile-AAT-8-1 TRNAI5 "transfer RNA isoleucine 5 (anticodon AAU)|transfer RNA-Ile (AAT) 8-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189095 HG983855 tRNA-Ile-AAT-8-1 HGNC:34656 +HGNC:12300 TRI-AAT9-1 tRNA-Ile (anticodon AAT) 9-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ile-AAT-9-1 "TRI|TRNAI1" "transfer RNA isoleucine|transfer RNA isoleucine 1 (anticodon AAU)|transfer RNA-Ile (AAT) 9-1" Cytoplasmic transfer RNAs 842 1994-02-18 2014-06-19 2019-04-04 2019-04-04 7202 HG983856 tRNA-Ile-AAT-9-1 HGNC:12300 +HGNC:35034 TRI-AAT10-1 tRNA-Ile (anticodon AAT) 10-1 pseudogene pseudogene Approved 6p22.1 06p22.1 tRNA-Ile-AAT-10-1 TRNAI28P "transfer RNA isoleucine 28 (anticodon AAU) pseudogene|transfer RNA-Ile (AAT) 10-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189462 HG983857 NG_008519 tRNA-Ile-AAT-10-1 HGNC:35034 +HGNC:35047 TRI-AAT11-1 tRNA-Ile (anticodon AAT) 11-1 pseudogene pseudogene Approved 12q24.33 12q24.33 tRNA-Ile-AAT-11-1 TRNAI29P "transfer RNA isoleucine 29 (anticodon AAU) pseudogene|transfer RNA-Ile (AAT) 11-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189474 HG983858 NG_008532 tRNA-Ile-AAT-11-1 HGNC:35047 +HGNC:35054 TRI-AAT12-1 tRNA-Ile (anticodon AAT) 12-1 non-coding RNA RNA, transfer Approved 20q13.2 20q13.2 tRNA-Ile-AAT-12-1 TRNAI30P "transfer RNA isoleucine 30 (anticodon AAU) pseudogene|transfer RNA-Ile (AAT) 12-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189481 HG983859 NG_008539 tRNA-Ile-AAT-12-1 HGNC:35054 +HGNC:34694 TRI-GAT1-1 tRNA-Ile (anticodon GAT) 1-1 non-coding RNA RNA, transfer Approved Xp22.33 Xp22.33 tRNA-Ile-GAT-1-1 TRNAI7 "transfer RNA isoleucine 7 (anticodon GAU)|transfer RNA-Ile (GAT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189132 HG983860 tRNA-Ile-GAT-1-1 HGNC:34694 +HGNC:34609 TRI-GAT1-2 tRNA-Ile (anticodon GAT) 1-2 non-coding RNA RNA, transfer Approved Xp22.33 Xp22.33 tRNA-Ile-GAT-1-2 TRNAI3 "transfer RNA isoleucine 3 (anticodon GAU)|transfer RNA-Ile (GAT) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189050 HG983861 tRNA-Ile-GAT-1-2 HGNC:34609 +HGNC:34996 TRI-GAT1-3 tRNA-Ile (anticodon GAT) 1-3 non-coding RNA RNA, transfer Approved Xp22.33 Xp22.33 tRNA-Ile-GAT-1-3 TRNAI26 "transfer RNA isoleucine 26 (anticodon GAU)|transfer RNA-Ile (GAT) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189427 HG983862 tRNA-Ile-GAT-1-3 HGNC:34996 +HGNC:34891 TRI-TAT1-1 tRNA-Ile (anticodon TAT) 1-1 non-coding RNA RNA, transfer Approved 19q13.2 19q13.2 tRNA-Ile-TAT-1-1 TRNAI18 "transfer RNA isoleucine 18 (anticodon UAU)|transfer RNA-Ile (TAT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189324 HG983863 tRNA-Ile-TAT-1-1 HGNC:34891 +HGNC:34828 TRI-TAT2-1 tRNA-Ile (anticodon TAT) 2-1 non-coding RNA RNA, transfer Approved 2p21 02p21 tRNA-Ile-TAT-2-1 TRNAI13 "transfer RNA isoleucine 13 (anticodon UAU)|transfer RNA-Ile (TAT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189265 HG983864 tRNA-Ile-TAT-2-1 HGNC:34828 +HGNC:34587 TRI-TAT2-2 tRNA-Ile (anticodon TAT) 2-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ile-TAT-2-2 TRNAI2 "transfer RNA isoleucine 2 (anticodon UAU)|transfer RNA-Ile (TAT) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189028 HG983865 tRNA-Ile-TAT-2-2 HGNC:34587 +HGNC:34693 TRI-TAT2-3 tRNA-Ile (anticodon TAT) 2-3 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ile-TAT-2-3 TRNAI6 "transfer RNA isoleucine 6 (anticodon UAU)|transfer RNA-Ile (TAT) 2-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189131 HG983866 tRNA-Ile-TAT-2-3 HGNC:34693 +HGNC:34916 TRI-TAT3-1 tRNA-Ile (anticodon TAT) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ile-TAT-3-1 TRNAI21 "transfer RNA isoleucine 21 (anticodon UAU)|transfer RNA-Ile (TAT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189348 HG983867 tRNA-Ile-TAT-3-1 HGNC:34916 +HGNC:26937 TRIAP1 TP53 regulated inhibitor of apoptosis 1 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "P53CSV|WF-1|HSPC132|p53CSV|MDM35" "p53-inducible cell-survival factor|mitochondrial distribution and morphology 35 homolog (S. cerevisiae)" 2006-02-24 2014-11-18 51499 ENSG00000170855 OTTHUMG00000047787 uc001tyg.3 NM_016399 CCDS9198 O43715 "11042152|15735003" MGI:1916326 RGD:1586233 614943 HGNC:26937 "ENST00000546954.2|NM_016399.3" +HGNC:31659 TRIAP1P1 TP53 regulated inhibitor of apoptosis 1 pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 bA748L13.4 C10orf135 chromosome 10 open reading frame 135 2004-05-27 2012-04-17 2012-04-17 2020-04-20 100289619 ENSG00000237956 OTTHUMG00000017859 NG_027980 PGOHUM00000238381 HGNC:31659 +HGNC:16891 TRIB1 tribbles pseudokinase 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "C8FW|GIG2|TRB1" tribbles homolog 1 (Drosophila) 2004-05-10 2013-10-03 2016-11-01 10221 ENSG00000173334 OTTHUMG00000165007 uc003yrx.4 AF205437 NM_025195 "CCDS64971|CCDS6357" Q96RU8 "9342215|16715410" MGI:2443397 RGD:621596 609461 objectId:2249 HGNC:16891 "ENST00000311922.4|NM_025195.4" +HGNC:30809 TRIB2 tribbles pseudokinase 2 protein-coding gene gene with protein product Approved 2p24.3 02p24.3 "TRB2|GS3955" tribbles homolog 2 (Drosophila) MicroRNA protein coding host genes 1691 2004-04-30 2013-10-03 2016-10-05 28951 ENSG00000071575 OTTHUMG00000090575 uc002rbv.5 AY245544 NM_021643 CCDS1683 Q92519 "12736262|17097562|16715410" MGI:2145021 RGD:1564451 609462 objectId:2250 HGNC:30809 "ENST00000155926.9|NM_021643.4" +HGNC:16228 TRIB3 tribbles pseudokinase 3 protein-coding gene gene with protein product Approved 20p13 20p13 "dJ1103G7.3|TRB3" C20orf97 "chromosome 20 open reading frame 97|tribbles homolog 3 (Drosophila)" 2001-07-17 2004-05-04 2013-10-03 2016-10-05 57761 ENSG00000101255 OTTHUMG00000031627 uc002wdm.4 AF250311 NM_021158 "CCDS77554|CCDS12997" Q96RU7 "12791994|16715410" MGI:1345675 RGD:708432 607898 objectId:2251 HGNC:16228 "ENST00000217233.9|NM_021158.5" HGNC:16228 +HGNC:22200 TRIL TLR4 interactor with leucine rich repeats protein-coding gene gene with protein product Approved 7p14.3 07p14.3 KIAA0644 2010-09-17 2016-06-06 2016-06-06 9865 ENSG00000255690 OTTHUMG00000152829 uc032zip.2 NM_014817 CCDS75573 Q7L0X0 19710467 MGI:1914123 RGD:1310827 613356 HGNC:22200 "ENST00000539664.3|NM_014817.4" +HGNC:15974 TRIM2 tripartite motif containing 2 protein-coding gene gene with protein product Approved 4q31.3 04q31.3 "KIAA0517|RNF86|CMT2R" "RING finger protein 86|Charcot-Marie-Tooth disease, type 2R" tripartite motif-containing 2 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-18 2011-01-25 2022-02-18 23321 ENSG00000109654 OTTHUMG00000155991 uc003ing.3 AF220018 NM_001130067 "CCDS47147|CCDS3781" Q9C040 "9628581|11331580|25893792" MGI:1933163 RGD:1310981 614141 401930 2.3.2.27 HGNC:15974 "ENST00000338700.10|NM_015271.5" HGNC:15974 +HGNC:10064 TRIM3 tripartite motif containing 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "HAC1|BERP|RNF97" "ring finger protein 22|brain expressed ring finger|tripartite motif protein TRIM3" RNF22 tripartite motif-containing 3 "Ring finger proteins|Tripartite motif family" "58|59" 2000-07-31 2001-11-23 2011-01-25 2016-10-05 10612 ENSG00000110171 OTTHUMG00000133405 uc009yfd.4 AF045239 NM_006458 "CCDS58115|CCDS7764" O75382 10391919 MGI:1860040 RGD:70074 605493 HGNC:10064 "ENST00000345851.8|NM_033278.4" +HGNC:16275 TRIM4 tripartite motif containing 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 RNF87 "tripartite motif protein TRIM4|tripartite motif protein 4" tripartite motif-containing 4 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-19 2011-01-25 2016-10-05 89122 ENSG00000146833 OTTHUMG00000156648 uc003usd.4 AF220023 NM_033017 "CCDS5678|CCDS5679" Q9C037 11331580 HGNC:16275 "ENST00000349062.7|NM_033091.3" +HGNC:16276 TRIM5 tripartite motif containing 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "RNF88|TRIM5alpha" "tripartite motif protein TRIM5|tripartite motif protein TRIM" tripartite motif-containing 5 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-20 2011-01-25 2016-10-05 85363 ENSG00000132256 OTTHUMG00000066893 uc001mbm.3 AF220025 NM_033034 "CCDS31394|CCDS31393|CCDS31392" Q9C035 11331580 MGI:3646853 RGD:1304579 608487 HGNC:16276 "ENST00000380034.8|NM_033034.3" +HGNC:16277 TRIM6 tripartite motif containing 6 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 RNF89 tripartite motif-containing 6 "Ring finger proteins|Tripartite motif family" "58|59" 2001-11-21 2011-01-25 2016-10-05 117854 ENSG00000121236 OTTHUMG00000150029 uc001mbc.3 AF220030 NM_001003818 "CCDS31390|CCDS55738|CCDS31389" Q9C030 11331580 MGI:2137352 RGD:1310896 607564 HGNC:16277 "ENST00000380097.8|NM_001003818.3" +HGNC:33440 TRIM6-TRIM34 TRIM6-TRIM34 readthrough other readthrough Approved 11p15.4 11p15.4 2007-07-31 2011-01-25 2014-11-19 445372 ENSG00000258588 OTTHUMG00000066899 uc001mbf.4 AB039903 NM_001003819 MGI:2137359 HGNC:33440 +HGNC:16278 TRIM7 tripartite motif containing 7 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "RNF90|GNIP" "glycogenin-interacting protein|tripartite motif protein TRIM7" tripartite motif-containing 7 "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-31 2011-01-25 2014-11-19 81786 ENSG00000146054 OTTHUMG00000130963 uc003mmz.3 AF220032 NM_203296 "CCDS43414|CCDS4463|CCDS4462|CCDS4464" Q9C029 11331580 MGI:2137353 RGD:1307328 609315 HGNC:16278 "ENST00000274773.12|NM_203293.3" +HGNC:40764 TRIM7-AS1 TRIM7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Antisense RNAs 1987 2020-04-01 2020-04-01 107986496 ENSG00000250900 OTTHUMG00000163005 XR_001743050 +HGNC:56031 TRIM7-AS2 TRIM7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 CTC-338M12.5 Antisense RNAs 1987 2021-12-03 2021-12-03 105377769 ENSG00000250222 XR_007059093 +HGNC:15579 TRIM8 tripartite motif containing 8 protein-coding gene gene with protein product Approved 10q24.32 10q24.32 GERP "glioblastoma expressed ring finger protein|E3 ubiquitin-protein ligase TRIM8" RNF27 "ring finger protein 27|tripartite motif-containing 8" "Ring finger proteins|Tripartite motif family" "58|59" 2001-04-26 2002-06-14 2011-01-25 2022-02-18 81603 ENSG00000171206 OTTHUMG00000018964 uc001kvz.3 AF281046 NM_030912 CCDS31274 Q9BZR9 "11118312|12163497|27346735" MGI:1933302 RGD:1585223 606125 2.3.2.27 HGNC:15579 "ENST00000643721.2|NM_030912.3" HGNC:15579 +HGNC:55573 TRIM8-DT TRIM8 divergent transcript non-coding RNA RNA, long non-coding Approved 10q24.32 10q24.32 Divergent transcripts 1990 2021-04-21 2021-04-21 121232369 ENSG00000272933 +HGNC:16288 TRIM9 tripartite motif containing 9 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 "SPRING|RNF91" SNAP-25-interacting RING finger protein tripartite motif-containing 9 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 2001-08-24 2011-01-25 2020-03-09 114088 ENSG00000100505 OTTHUMG00000140291 uc001wyx.5 AF220036 NM_015163 "CCDS45105|CCDS9703" Q9C026 "11331580|11524423" MGI:2137354 RGD:621540 606555 HGNC:16288 "ENST00000684578.1|NM_001387360.1" +HGNC:10072 TRIM10 tripartite motif containing 10 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "RFB30|HERF1" RNF9 tripartite motif-containing 10 "Ring finger proteins|Tripartite motif family" "58|59" 1999-06-18 2001-11-23 2011-01-25 2016-10-05 10107 ENSG00000204613 OTTHUMG00000031295 uc011ihw.3 Y07829 NM_006778 "CCDS34375|CCDS4676" Q9UDY6 "9271628|10207104" MGI:1338757 RGD:1359438 605701 HGNC:10072 "ENST00000449742.7|NM_006778.4" +HGNC:16281 TRIM11 tripartite motif containing 11 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "RNF92|BIA1" tripartite motif-containing 11 "Ring finger proteins|Tripartite motif family|MicroRNA protein coding host genes" "58|59|1691" 2001-08-07 2011-01-25 2014-11-19 81559 ENSG00000154370 OTTHUMG00000039773 uc001hss.4 AF220125 NM_145214 CCDS31048 Q96F44 11331580 MGI:2137355 RGD:1305448 607868 HGNC:16281 "ENST00000284551.11|NM_145214.3" +HGNC:9976 TRIM13 tripartite motif containing 13 protein-coding gene gene with protein product Approved 13q14.2 13q14.2 "Leu5|RNF77|DLEU5" RFP2 "ret finger protein 2|tripartite motif-containing 13" "Ring finger proteins|Tripartite motif family" "58|59" 1999-12-01 2006-09-26 2011-01-25 2016-10-05 10206 ENSG00000204977 OTTHUMG00000016926 uc001vds.2 AF220127 NM_001007278 "CCDS9423|CCDS41888" O60858 9599022 MGI:1913847 RGD:1307609 605661 HGNC:9976 "ENST00000378182.4|NM_213590.3" +HGNC:16283 TRIM14 tripartite motif containing 14 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 KIAA0129 tripartite motif-containing 14 Tripartite motif family 59 2001-07-31 2011-01-25 2016-10-05 9830 ENSG00000106785 OTTHUMG00000020339 uc064urn.1 AF220130 NM_014788 CCDS6734 Q14142 11331580 MGI:1921985 RGD:1311514 606556 HGNC:16283 "ENST00000341469.7|NM_014788.4" +HGNC:16284 TRIM15 tripartite motif containing 15 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZNFB7|RNF93" ZNF178 "zinc finger protein 178|tripartite motif-containing 15" "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-31 2011-01-25 2016-10-05 89870 ENSG00000204610 OTTHUMG00000031031 uc063ylb.1 "AF220132|U34249" NM_033229 CCDS4677 Q9C019 "11331580|8304341|8812418" MGI:1916347 RGD:6496746 HGNC:16284 "ENST00000376694.9|NM_033229.3" +HGNC:17241 TRIM16 tripartite motif containing 16 protein-coding gene gene with protein product Approved 17p12 17p12 EBBP estrogen-responsive B box protein tripartite motif-containing 16 Tripartite motif family 59 2001-11-22 2011-01-25 2016-10-05 10626 ENSG00000221926 OTTHUMG00000059067 uc002gox.4 AF096870 NM_006470 "CCDS86578|CCDS11171|CCDS86579" O95361 11331580 MGI:2137356 RGD:1309749 609505 HGNC:17241 "ENST00000649191.2|NM_001348119.1" +HGNC:32670 TRIM16L tripartite motif containing 16 like protein-coding gene gene with protein product Approved 17p11.2 17p11.2 TRIM70 tripartite motif-containing 16-like 2006-03-29 2017-02-21 2017-02-21 147166 ENSG00000108448 OTTHUMG00000059050 uc010cqg.2 DQ232882 NM_001037330 CCDS32588 Q309B1 MGI:2137356 HGNC:32670 +HGNC:13430 TRIM17 tripartite motif containing 17 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "terf|RBCC" "ring finger protein 16|RING finger protein terf|testis RING finger protein" RNF16 tripartite motif-containing 17 "Ring finger proteins|Tripartite motif family" "58|59" 2000-03-15 2001-11-30 2011-01-25 2016-10-05 51127 ENSG00000162931 OTTHUMG00000039974 uc001hsv.4 AF156271 NM_016102 "CCDS1571|CCDS44327" Q9Y577 "9792805|10894938" MGI:1861440 RGD:69290 606123 HGNC:13430 "ENST00000366698.7|NM_016102.4" +HGNC:11312 TRIM21 tripartite motif containing 21 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "RNF81|RO52" "Ro/SSA 52kDa|E3 ubiquitin-protein ligase TRIM21" SSA1 "Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)|tripartite motif-containing 21" "Ring finger proteins|Tripartite motif family" "58|59" 1994-01-06 2004-11-26 2011-01-25 2020-04-01 6737 ENSG00000132109 OTTHUMG00000165701 uc001lyy.2 AF391283 NM_003141 CCDS44525 P19474 8094596 MGI:106657 RGD:1305795 109092 objectId:2967 2.3.2.27 HGNC:11312 "ENST00000254436.8|NM_003141.4" +HGNC:16379 TRIM22 tripartite motif containing 22 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "STAF50|GPSTAF50|RNF94" tripartite motif-containing 22 "Ring finger proteins|Tripartite motif family|Minor histocompatibility antigens" "58|59|870" 2001-08-10 2011-01-25 2016-10-05 10346 ENSG00000132274 OTTHUMG00000066904 uc001mbr.4 X82200 NM_006074 CCDS41612 Q8IYM9 "11331580|11096452" 606559 471254 HGNC:16379 "ENST00000379965.8|NM_006074.5" HGNC:16379 +HGNC:660 TRIM23 tripartite motif containing 23 protein-coding gene gene with protein product Approved 5q12.3 05q12.3 "ARD1|RNF46" ARFD1 "ADP-ribosylation factor domain protein 1, 64kDa|tripartite motif-containing 23" "Ring finger proteins|Tripartite motif family|ARF GTPase family" "58|59|357" 1994-06-23 2004-06-04 2011-01-25 2020-09-17 373 ENSG00000113595 OTTHUMG00000097802 uc003jty.4 L04510 NM_001656 "CCDS3986|CCDS43322|CCDS3987" P36406 8473324 MGI:1933161 RGD:621587 601747 HGNC:660 "ENST00000231524.14|NM_001656.4" HGNC:660 +HGNC:11812 TRIM24 tripartite motif containing 24 protein-coding gene gene with protein product Approved 7q33-q34 07q33-q34 "hTIF1|Tif1a|RNF82|TIF1A" TIF1 "transcriptional intermediary factor 1|tripartite motif-containing 24" "Ring finger proteins|Tripartite motif family|PHD finger proteins|Bromodomain containing" "58|59|88|1232" 1998-12-18 2005-06-02 2011-01-25 2018-02-13 8805 ENSG00000122779 OTTHUMG00000155820 uc003vuc.4 AF009353 NM_015905 "CCDS47720|CCDS5847" O15164 "9115274|9191165" MGI:109275 RGD:1560596 TRIM24 603406 120263 objectId:2252 HGNC:11812 "ENST00000343526.9|NM_015905.3" +HGNC:12932 TRIM25 tripartite motif containing 25 protein-coding gene gene with protein product Approved 17q22 17q22 "EFP|RNF147" ZNF147 "zinc finger protein 147 (estrogen-responsive finger protein)|tripartite motif-containing 25" "Ring finger proteins|Tripartite motif family|MicroRNA protein coding host genes" "58|59|1691" 1994-03-16 2004-03-30 2011-01-25 2020-04-01 7706 ENSG00000121060 OTTHUMG00000178124 uc002iut.4 D21205 NM_005082 CCDS11591 Q14258 7789997 MGI:102749 RGD:1594396 600453 HGNC:12932 "ENST00000316881.9|NM_005082.5" +HGNC:12962 TRIM26 tripartite motif containing 26 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 RNF95 ZNF173 tripartite motif-containing 26 "Ring finger proteins|Tripartite motif family" "58|59" 1995-07-11 2001-11-23 2011-01-25 2016-10-05 7726 ENSG00000234127 OTTHUMG00000031041 uc011iib.3 AB088090 NM_003449 CCDS4678 Q12899 8530076 MGI:1337056 RGD:1359126 600830 HGNC:12962 "ENST00000454678.7|NM_003449.5" +HGNC:31338 TRIM26BP tripartite motif containing 26B, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "Em:AB023053.1|TRIM26P1" tripartite motif containing 26 pseudogene 1 TRIM26P tripartite motif-containing 26 pseudogene Tripartite motif family 59 2004-03-02 2012-05-21 2012-05-21 2016-10-05 404024 ENSG00000236475 OTTHUMG00000031283 NG_023052 PGOHUM00000243569 HGNC:31338 +HGNC:9975 TRIM27 tripartite motif containing 27 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 RNF76 RFP "ret finger protein|tripartite motif-containing 27" "Ring finger proteins|Tripartite motif family" "58|59" 1995-05-09 2006-09-26 2011-01-25 2016-10-05 5987 ENSG00000204713 OTTHUMG00000031215 uc003nlr.4 Z58939 NM_030950 CCDS4654 P14373 8114113 MGI:97904 RGD:1310105 TRIM27 602165 120269 HGNC:9975 "ENST00000377199.4|NM_006510.5" +HGNC:16384 TRIM28 tripartite motif containing 28 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "TIF1B|KAP1|TF1B|RNF96|PPP1R157|KAP-1|TIF1-beta|TIF1beta" "protein phosphatase 1, regulatory subunit 157|Transcription intermediary factor 1-beta|RING finger protein 96|KRAB-associated protein 1" tripartite motif-containing 28 "Ring finger proteins|Tripartite motif family|PHD finger proteins|Protein phosphatase 1 regulatory subunits|Bromodomain containing|MicroRNA protein coding host genes" "58|59|88|694|1232|1691" 2001-08-10 2011-01-25 2022-02-18 10155 ENSG00000130726 OTTHUMG00000183546 uc002qtg.2 NM_005762 CCDS12985 Q13263 "11331580|11226167|25882849" MGI:109274 RGD:620289 601742 objectId:2253 2.3.2.27 HGNC:16384 "ENST00000253024.10|NM_005762.3" HGNC:16384 +HGNC:17274 TRIM29 tripartite motif containing 29 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "ATDC|FLJ36085" "tripartite motif protein TRIM29|ataxia-telangiectasia group D-associated protein" tripartite motif-containing 29 Tripartite motif family 59 2001-11-28 2011-01-25 2014-11-18 23650 ENSG00000137699 OTTHUMG00000140377 uc001pwz.4 AF230388 NM_012101 "CCDS8428|CCDS81637" Q14134 11331580 MGI:1919419 RGD:1307858 610658 HGNC:17274 "ENST00000341846.10|NM_012101.4" +HGNC:16289 TRIM31 tripartite motif containing 31 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "RNF|HCGI|C6orf13|HCG1" tripartite motif-containing 31 "Ring finger proteins|Tripartite motif family" "58|59" 2001-08-16 2011-01-25 2016-10-05 11074 ENSG00000204616 OTTHUMG00000031064 uc011ihp.3 AF230386 NM_007028 CCDS34374 Q9BZY9 11331580 MGI:2385051 RGD:1308607 609316 HGNC:16289 "ENST00000376734.4|NM_007028.5" +HGNC:39761 TRIM31-AS1 TRIM31 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 TRIM31 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-09-08 2012-08-15 2012-10-12 104533120 ENSG00000231226 OTTHUMG00000130787 uc063xfr.1 NR_126470 TRIM31-AS1 HGNC:39761 +HGNC:16380 TRIM32 tripartite motif containing 32 protein-coding gene gene with protein product Approved 9q33.1 09q33.1 "HT2A|TATIP|BBS11" LGMD2H "limb girdle muscular dystrophy 2H (autosomal recessive)|tripartite motif-containing 32|E3 ubiquitin-protein ligase TRIM32" "Ring finger proteins|Tripartite motif family" "58|59" 2001-08-10 2011-01-25 2022-02-18 22954 ENSG00000119401 OTTHUMG00000021026 uc004bjw.3 U18543 NM_012210 CCDS6817 Q13049 "11331580|7778269|16606853|19349376" MGI:1917057 RGD:1305238 "Leiden Muscular Dystrophy Pages|http://www.LOVD.nl/TRIM32|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TRIM32|LRG_211|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_211.xml" 602290 120273 2.3.2.27 HGNC:16380 "ENST00000450136.2|NM_012210.4" HGNC:16380 +HGNC:16290 TRIM33 tripartite motif containing 33 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "TIF1GAMMA|FLJ11429|KIAA1113|TIFGAMMA|RFG7|TF1G|TIF1G|PTC7" "transcriptional intermediary factor 1 gamma|ret-fused gene 7" tripartite motif-containing 33 "Ring finger proteins|Tripartite motif family|PHD finger proteins|Bromodomain containing" "58|59|88|1232" 2001-08-10 2011-01-25 2016-10-05 51592 ENSG00000197323 OTTHUMG00000011891 uc001eew.3 AF220136 NM_015906 "CCDS872|CCDS873" Q9UPN9 "11331580|10022127" MGI:2137357 RGD:1307339 TRIM33 605769 120279 objectId:2254 HGNC:16290 "ENST00000358465.7|NM_015906.4" +HGNC:10063 TRIM34 tripartite motif containing 34 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 RNF21 tripartite motif-containing 34 "Ring finger proteins|Tripartite motif family" "58|59" 2000-05-23 2001-11-23 2011-01-25 2016-11-10 53840 ENSG00000258659 OTTHUMG00000066892 uc001mbh.4 AB039902 NM_001003827 CCDS31391 Q9BYJ4 "MGI:2137359|MGI:4821264" RGD:7240857 605684 HGNC:10063 "ENST00000429814.3|NM_021616.6" +HGNC:16285 TRIM35 tripartite motif containing 35 protein-coding gene gene with protein product Approved 8p21.2 08p21.2 "KIAA1098|MAIR|HLS5" tripartite motif-containing 35 "Ring finger proteins|Tripartite motif family" "58|59" 2001-11-21 2011-01-25 2014-11-19 23087 ENSG00000104228 OTTHUMG00000102047 uc003xfl.2 AB029021 NM_171982 "CCDS6056|CCDS78322" Q9UPQ4 "11331580|14662771|12692137" MGI:1914104 RGD:1564642 617007 HGNC:16285 "ENST00000305364.9|NM_171982.5" +HGNC:16280 TRIM36 tripartite motif containing 36 protein-coding gene gene with protein product Approved 5q22.3 05q22.3 "RBCC728|RNF98|HAPRIN" "zinc-binding protein Rbcc728|tripartite motif protein 36|RING finger protein 98" tripartite motif-containing 36 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 2001-11-21 2011-01-25 2016-10-05 55521 ENSG00000152503 OTTHUMG00000128892 uc003kqs.4 AJ272269 NM_018700 "CCDS34211|CCDS78047|CCDS34212|CCDS4115|CCDS75287" Q9NQ86 11331580 MGI:106264 RGD:1308714 609317 HGNC:16280 "ENST00000513154.6|NM_001300759.2" +HGNC:41422 TRIM36-IT1 TRIM36 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q22.3 05q22.3 TRIM36 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874338 ENSG00000250472 OTTHUMG00000163154 uc063gct.1 TRIM36-IT1 +HGNC:7523 TRIM37 tripartite motif containing 37 protein-coding gene gene with protein product Approved 17q22 17q22 "KIAA0898|POB1|TEF3" "RING-B-box-coiled-coil protein|E3 ubiquitin-protein ligase TRIM37" MUL "tripartite motif-containing 37|Mulibrey nanism" "Ring finger proteins|Tripartite motif family" "58|59" 1995-09-08 2001-11-30 2011-01-25 2022-02-18 4591 ENSG00000108395 OTTHUMG00000179360 uc002iwy.5 AB020705 NM_015294 "CCDS32694|CCDS45746|CCDS82174" O94972 "9106536|10888877" MGI:2153072 RGD:1308349 605073 120289 2.3.2.27 HGNC:7523 "ENST00000262294.12|NM_015294.6" HGNC:7523 +HGNC:10059 TRIM38 tripartite motif containing 38 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 RORET RNF15 "ring finger protein 15|tripartite motif-containing 38" "Ring finger proteins|Tripartite motif family" "58|59" 2000-03-06 2002-06-07 2011-01-25 2016-10-05 10475 ENSG00000112343 OTTHUMG00000014414 uc003nfm.5 U90547 NM_006355 CCDS4568 O00635 MGI:2684869 RGD:1596868 objectId:2984 HGNC:10059 "ENST00000357085.5|NM_006355.5" +HGNC:10065 TRIM39 tripartite motif containing 39 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 RNF23 "ring finger protein 23|tripartite motif-containing 39" "Ring finger proteins|Tripartite motif family" "58|59" 2000-07-31 2002-06-07 2011-01-25 2015-09-01 56658 ENSG00000204599 OTTHUMG00000031066 uc010jrz.4 BC034985 NM_172016 "CCDS34377|CCDS34378" Q9HCM9 11006080 MGI:1890659 RGD:1303115 605700 HGNC:10065 +HGNC:38845 TRIM39-RPP21 TRIM39-RPP21 readthrough other readthrough Approved 6p22.1 06p22.1 2011-02-21 2014-11-19 202658 ENSG00000248167 OTTHUMG00000161144 uc063mrm.1 NM_001199119.1 CCDS78121 HGNC:38845 +HGNC:18736 TRIM40 tripartite motif containing 40 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 RNF35 tripartite motif-containing 40 "Ring finger proteins|Tripartite motif family" "58|59" 2002-06-11 2011-01-25 2016-10-05 135644 ENSG00000204614 OTTHUMG00000031083 uc011ihs.1 AF489517 NM_001286633 "CCDS69069|CCDS4675" Q6P9F5 MGI:2684881 RGD:1359645 616976 HGNC:18736 "ENST00000396581.6|NM_001286633.2" +HGNC:19013 TRIM41 tripartite motif containing 41 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "MGC1127|RINCK" RING-finger protein that interacts with C kinase tripartite motif-containing 41 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2014-11-19 90933 ENSG00000146063 OTTHUMG00000130965 uc003mne.3 AF258579 NM_201627 "CCDS4465|CCDS4466" Q8WV44 16022281 MGI:2384814 RGD:1308885 610530 HGNC:19013 "ENST00000315073.10|NM_033549.5" +HGNC:19014 TRIM42 tripartite motif containing 42 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ40097|PPP1R40|T4A1" protein phosphatase 1, regulatory subunit 40 tripartite motif-containing 42 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing|Protein phosphatase 1 regulatory subunits|Minor histocompatibility antigens" "58|59|555|694|870" 2003-01-03 2011-01-25 2015-08-26 287015 ENSG00000155890 OTTHUMG00000160170 uc003eto.3 AF521868 NM_152616 CCDS3113 Q8IWZ5 MGI:1926161 RGD:1359699 HGNC:19014 "ENST00000286349.4|NM_152616.5" +HGNC:19015 TRIM43 tripartite motif containing 43 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 TRIM43A tripartite motif-containing 43 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2016-10-05 129868 ENSG00000144015 OTTHUMG00000130401 uc002suv.4 BK000505 NM_138800 CCDS2015 Q96BQ3 "MGI:3645218|MGI:3647365|MGI:3648996" RGD:1561074 HGNC:19015 "ENST00000272395.3|NM_138800.3" +HGNC:37146 TRIM43B tripartite motif containing 43B protein-coding gene gene with protein product Approved 2q11.1 02q11.1 tripartite motif-containing 43B "Ring finger proteins|Tripartite motif family" "58|59" 2009-07-24 2011-01-25 2020-06-15 653192 ENSG00000144010 OTTHUMG00000155170 NM_001164464 A6NCK2 "MGI:3645218|MGI:3647365|MGI:3648996" HGNC:37146 +HGNC:43981 TRIM43CP tripartite motif containing 43C, pseudogene pseudogene pseudogene Approved 2q11.2 02q11.2 Tripartite motif family 59 2012-05-21 2012-11-02 643445 ENSG00000144188 OTTHUMG00000155327 NG_028773 PGOHUM00000240216 HGNC:43981 +HGNC:19016 TRIM44 tripartite motif containing 44 protein-coding gene gene with protein product Approved 11p13 11p13 "DIPB|MC7" tripartite motif-containing 44 Tripartite motif family 59 2003-01-03 2011-01-25 2022-03-07 54765 ENSG00000166326 OTTHUMG00000166312 uc001mwi.3 BC024031 NM_017583 CCDS31461 Q96DX7 "19358823|34382902" MGI:1931835 RGD:1304877 612298 445573 HGNC:19016 "ENST00000299413.7|NM_017583.6" HGNC:19016 +HGNC:19018 TRIM45 tripartite motif containing 45 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "FLJ13181|RNF99" tripartite motif-containing 45 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2014-11-19 80263 ENSG00000134253 OTTHUMG00000012119 uc001egz.3 NM_025188 "CCDS893|CCDS44200" Q9H8W5 15351693 MGI:1918187 RGD:1309168 609318 HGNC:19018 "ENST00000256649.9|NM_025188.4" +HGNC:19019 TRIM46 tripartite motif containing 46 protein-coding gene gene with protein product Approved 1q22 01q22 "FLJ23229|TRIFIC" tripartite motif-containing 46 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2014-11-19 80128 ENSG00000163462 OTTHUMG00000035680 uc001fhs.3 NM_025058 "CCDS72931|CCDS1097|CCDS58033|CCDS60285|CCDS72932" Q7Z4K8 MGI:2673000 RGD:1305993 600986 HGNC:19019 "ENST00000334634.9|NM_025058.5" +HGNC:19020 TRIM47 tripartite motif containing 47 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "GOA|RNF100" tripartite motif-containing 47 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2019-04-16 91107 ENSG00000132481 OTTHUMG00000179916 uc002jpw.4 AY026763 NM_033452 CCDS32737 Q96LD4 MGI:1917374 RGD:1597317 611041 HGNC:19020 "ENST00000254816.6|NM_033452.3" +HGNC:19021 TRIM48 tripartite motif containing 48 protein-coding gene gene with protein product Approved 11q11 11q11 RNF101 tripartite motif-containing 48 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2016-10-05 79097 ENSG00000150244 OTTHUMG00000157011 uc010rid.2 AF521869 NM_024114 CCDS7947 Q8IWZ4 "MGI:3647365|MGI:3648996" HGNC:19021 "ENST00000417545.5|NM_024114.5" +HGNC:13431 TRIM49 tripartite motif containing 49 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 TRIM49A RNF18 "ring finger protein 18|tripartite motif-containing 49" "Ring finger proteins|Tripartite motif family" "58|59" 2000-12-21 2004-11-17 2011-01-25 2022-03-14 57093 ENSG00000168930 OTTHUMG00000167634 uc001pdb.3 AB037682 NM_020358 CCDS8287 P0CI25 11018261 "MGI:3647365|MGI:3648996" 606124 HGNC:13431 "ENST00000329758.5|NM_020358.2" +HGNC:42955 TRIM49B tripartite motif containing 49B protein-coding gene gene with protein product Approved 11p11.12 11p11.12 "Ring finger proteins|Tripartite motif family" "58|59" 2012-05-18 2015-09-08 283116 ENSG00000182053 OTTHUMG00000186986 uc021qix.2 NM_001206626 CCDS55762 A6NDI0 "MGI:3647365|MGI:3648996" HGNC:42955 "ENST00000332682.9|NM_001206626.2" +HGNC:38877 TRIM49C tripartite motif containing 49C protein-coding gene gene with protein product Approved 11q14.3 11q14.3 TRIM49L2 tripartite motif containing 49-like 2 "Ring finger proteins|Tripartite motif family" "58|59" 2010-09-08 2012-05-18 2012-05-18 2020-04-20 642612 ENSG00000204449 uc010rua.2 BC126470 NM_001195234 CCDS53694 P0CI26 "MGI:3647365|MGI:3648996" HGNC:38877 "ENST00000448984.1|NM_001195234.1" +HGNC:43973 TRIM49D1 tripartite motif containing 49D1 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 TRIM49D tripartite motif containing 49D "TRIM49DP|TRIM49D1P" "tripartite motif containing 49D, pseudogene|tripartite motif containing 49D1, pseudogene" "Ring finger proteins|Tripartite motif family" "58|59" 2012-05-21 2013-03-06 2013-03-06 2014-02-17 399939 ENSG00000223417 OTTHUMG00000167643 uc009yvu.4 NM_001206627 CCDS60930 C9J1S8 PGOHUM00000257849 HGNC:43973 "ENST00000420869.3|NM_001384911.1" +HGNC:37217 TRIM49D2 tripartite motif containing 49D2 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "TRIM49L|TRIM49L1|TRIM49D2P" "tripartite motif-containing 49-like|tripartite motif containing 49-like 1|tripartite motif containing 49D2, pseudogene" "Ring finger proteins|Tripartite motif family" "58|59" 2010-03-04 2014-09-09 2014-09-09 2014-11-19 729384 ENSG00000233802 OTTHUMG00000167644 NM_001105522 C9J1S8 22144910 HGNC:37217 "ENST00000623787.3|NM_001105522.1" +HGNC:19017 TRIM50 tripartite motif containing 50 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 FLJ32804 TRIM50A "tripartite motif-containing 50A|tripartite motif-containing 50" "Ring finger proteins|Tripartite motif family" "58|59" 2002-08-29 2006-03-31 2011-01-25 2016-07-28 135892 ENSG00000146755 OTTHUMG00000156805 uc032zrg.2 AY081948 NM_178125 CCDS34654 Q86XT4 MGI:2664992 RGD:631346 612548 6.3.2.- HGNC:19017 "ENST00000333149.7|NM_178125.3" +HGNC:19023 TRIM51 tripartite motif-containing 51 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 TRIM51A SPRYD5 SPRY domain containing 5 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2012-05-18 2012-05-18 2016-10-05 84767 ENSG00000124900 OTTHUMG00000156437 uc010rip.3 BC005014 NM_032681 Q9BSJ1 "MGI:3647365|MGI:3648996" HGNC:19023 "ENST00000449290.6|NM_032681.4" +HGNC:37145 TRIM51BP tripartite motif-containing 51B, pseudogene pseudogene pseudogene Approved 11q14.3 11q14.3 "SPRYD5P|SPRYD5P1" "SPRY domain containing 5 pseudogene|SPRY domain containing 5 pseudogene 1" Tripartite motif family 59 2009-07-24 2012-05-21 2012-05-21 2012-11-02 399937 ENSG00000204455 OTTHUMG00000167636 NG_011760 PGOHUM00000257911 HGNC:37145 +HGNC:43968 TRIM51CP tripartite motif-containing 51C, pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 Tripartite motif family 59 2012-05-18 2012-05-21 2012-05-21 2012-11-02 100130105 ENSG00000249910 OTTHUMG00000160550 NG_028918 PGOHUM00000242680 HGNC:43968 +HGNC:43969 TRIM51DP tripartite motif-containing 51D, pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 Tripartite motif family 59 2012-05-18 2012-05-21 2012-05-21 2012-11-02 100419945 ENSG00000255190 OTTHUMG00000166679 NG_024491 PGOHUM00000242695 HGNC:43969 +HGNC:43970 TRIM51EP tripartite motif-containing 51E, pseudogene pseudogene pseudogene Approved 11q14.3 11q14.3 Tripartite motif family 59 2012-05-18 2012-05-21 2012-05-21 2012-11-02 399940 ENSG00000237706 OTTHUMG00000167650 NR_146921 PGOHUM00000257852 HGNC:43970 +HGNC:43966 TRIM51FP tripartite motif-containing 51F, pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 Tripartite motif family 59 2012-05-21 2012-11-02 283257 ENSG00000219061 OTTHUMG00000166724 NG_028915 PGOHUM00000257816 HGNC:43966 +HGNC:43972 TRIM51G tripartite motif-containing 51G protein-coding gene gene with protein product Approved 11p11.12 11p11.12 TRIM51GP tripartite motif-containing 51G, pseudogene Tripartite motif family 59 2012-05-21 2021-09-29 2021-09-29 2021-09-29 120824 ENSG00000220948 OTTHUMG00000165215 NM_001396075 A0A3B3IT33 PGOHUM00000257809 HGNC:43972 +HGNC:43977 TRIM51HP tripartite motif-containing 51H, pseudogene pseudogene pseudogene Approved 11q11 11q11 Tripartite motif family 59 2012-05-21 2012-11-02 440041 ENSG00000166007 OTTHUMG00000166775 NR_038174 PGOHUM00000257821 HGNC:43977 +HGNC:43978 TRIM51JP tripartite motif-containing 51J, pseudogene pseudogene pseudogene Approved 2q11.1 02q11.1 Tripartite motif family 59 2012-05-21 2012-11-02 643126 ENSG00000232717 OTTHUMG00000155155 NG_028919 PGOHUM00000258144 HGNC:43978 +HGNC:19024 TRIM52 tripartite motif containing 52 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 RNF102 tripartite motif-containing 52 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2015-09-10 84851 ENSG00000183718 OTTHUMG00000130964 uc003mnp.4 NM_032765 CCDS4467 Q96A61 MGI:3045276 RGD:1565615 619265 HGNC:19024 "ENST00000688015.1|NM_001346048.2" +HGNC:49006 TRIM52-AS1 TRIM52 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 Antisense RNAs 1987 2013-07-30 2013-07-30 2016-11-18 100507602 ENSG00000248275 OTTHUMG00000163002 NR_102759 26934858 619266 TRIM52-AS1 HGNC:49006 +HGNC:19025 TRIM53AP tripartite motif containing 53A, pseudogene pseudogene pseudogene Approved 11q14.3 11q14.3 "TRIM53|TRIM53P" "tripartite motif-containing 53|tripartite motif containing 53|tripartite motif containing 53, pseudogene" Tripartite motif family 59 2004-11-17 2012-05-21 2012-05-21 2012-11-02 642569 ENSG00000225581 OTTHUMG00000167651 AP004607 NR_028346 PGOHUM00000257854 HGNC:19025 +HGNC:37144 TRIM53BP tripartite motif containing 53B, pseudogene pseudogene pseudogene Approved 11q14.3 11q14.3 "TRIM53L|TRIM53B|TRIM80P" "tripartite motif-containing 53-like|tripartite motif containing 53B|tripartite motif containing 80, pseudogene" Tripartite motif family 59 2009-07-24 2012-05-21 2012-05-21 2021-10-07 642425 ENSG00000166013 OTTHUMG00000160564 NG_012754 PGOHUM00000257908 HGNC:37144 +HGNC:43979 TRIM53CP tripartite motif containing 53C, pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 Tripartite motif family 59 2012-05-21 2012-11-02 340970 ENSG00000254764 OTTHUMG00000166638 NG_021782 PGOHUM00000242232 HGNC:43979 +HGNC:16008 TRIM54 tripartite motif containing 54 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "MURF|MURF-3" RNF30 "ring finger protein 30|tripartite motif-containing 54" "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-02 2004-11-17 2011-01-25 2014-11-19 57159 ENSG00000138100 OTTHUMG00000097078 uc002rjo.4 AJ291714 NM_187841 "CCDS1746|CCDS1745" Q9BYV2 11243782 MGI:1889623 RGD:1306453 606474 471256 HGNC:16008 "ENST00000380075.7|NM_187841.3" +HGNC:14215 TRIM55 tripartite motif containing 55 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 MURF-2 RNF29 "ring finger protein 29|tripartite motif-containing 55" "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-02 2004-11-17 2011-01-25 2014-11-19 84675 ENSG00000147573 OTTHUMG00000164473 uc003xvv.4 AJ291712 NM_184085 "CCDS6187|CCDS6186|CCDS6185|CCDS6184" Q9BYV6 11243782 MGI:3036269 RGD:1306943 606469 HGNC:14215 "ENST00000315962.9|NM_184085.2" +HGNC:19028 TRIM56 tripartite motif containing 56 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 RNF109 tripartite motif-containing 56 "Ring finger proteins|Tripartite motif family" "58|59" 2003-01-03 2011-01-25 2016-10-05 81844 ENSG00000169871 OTTHUMG00000157032 uc003uxq.4 BK000511 NM_030961 CCDS43625 Q9BRZ2 MGI:2685298 616996 HGNC:19028 "ENST00000306085.11|NM_030961.3" +HGNC:24150 TRIM58 tripartite motif containing 58 protein-coding gene gene with protein product Approved 1q44 01q44 BIA2 tripartite motif-containing 58 "Ring finger proteins|Tripartite motif family" "58|59" 2004-11-17 2011-01-25 2015-08-26 25893 ENSG00000162722 OTTHUMG00000040203 uc001ido.4 AF327057 NM_015431 CCDS1636 Q8NG06 MGI:2684862 RGD:1566174 HGNC:24150 "ENST00000366481.4|NM_015431.4" +HGNC:30834 TRIM59 tripartite motif containing 59 protein-coding gene gene with protein product Approved 3q25.33 03q25.33 "TSBF1|Mrf1|RNF104" TRIM57 "tripartite motif-containing 57|tripartite motif-containing 59" "Ring finger proteins|Tripartite motif family" "58|59" 2004-07-12 2011-01-25 2016-10-05 286827 ENSG00000213186 OTTHUMG00000159034 uc003fdm.4 AY159379 NM_173084 CCDS3190 Q8IWR1 12095697 MGI:1914199 RGD:1311956 616148 HGNC:30834 "ENST00000309784.9|NM_173084.3" +HGNC:21162 TRIM60 tripartite motif containing 60 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 FLJ35882 "RNF129|RNF33" "ring finger protein 129|tripartite motif-containing 60" "Ring finger proteins|Tripartite motif family" "58|59" 2003-05-21 2004-11-17 2011-01-25 2014-11-19 166655 ENSG00000176979 OTTHUMG00000161262 uc003iqy.2 AK093201 NM_152620 CCDS3808 Q495X7 MGI:2387430 RGD:2324264 619416 HGNC:21162 "ENST00000512596.6|NM_152620.3" +HGNC:38403 TRIM60P1Y tripartite motif containing 60 pseudogene 1, Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 TRIM60P1 TRIM60PY1 "tripartite motif-containing 60 pseudogene, Y-linked 1|tripartite motif-containing 60 pseudogene 1, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-18 100420362 NG_021907 PGOHUM00000233684 HGNC:38403 +HGNC:38405 TRIM60P2Y tripartite motif containing 60 pseudogene 2, Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 TRIM60P2 TRIM60PY2 "tripartite motif-containing 60 pseudogene, Y-linked 2|tripartite motif-containing 60 pseudogene 2, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-19 100420363 NG_021908 PGOHUM00000233686 HGNC:38405 +HGNC:38409 TRIM60P3Y tripartite motif containing 60 pseudogene 3, Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 TRIM60P3 TRIM60PY3 "tripartite motif-containing 60 pseudogene, Y-linked 3|tripartite motif-containing 60 pseudogene 3, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-19 100420364 ENSG00000227830 OTTHUMG00000041274 NG_021909 PGOHUM00000233693 HGNC:38409 +HGNC:38425 TRIM60P4Y tripartite motif containing 60 pseudogene 4, Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 TRIM60P4 TRIM60PY4 "tripartite motif-containing 60 pseudogene, Y-linked 4|tripartite motif-containing 60 pseudogene 4, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-18 100420367 NG_021923 PGOHUM00000233820 HGNC:38425 +HGNC:38430 TRIM60P5Y tripartite motif containing 60 pseudogene 5, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 TRIM60P5 TRIM60PY5 "tripartite motif-containing 60 pseudogene, Y-linked 5|tripartite motif-containing 60 pseudogene 5, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-18 100420368 ENSG00000224210 OTTHUMG00000045106 NG_021927 PGOHUM00000233852 HGNC:38430 +HGNC:38432 TRIM60P6Y tripartite motif containing 60 pseudogene 6, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 TRIM60P6 TRIM60PY6 "tripartite motif-containing 60 pseudogene, Y-linked 6|tripartite motif-containing 60 pseudogene 6, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-19 100420369 NG_021928 PGOHUM00000233855 HGNC:38432 +HGNC:38433 TRIM60P7Y tripartite motif containing 60 pseudogene 7, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 TRIM60P7 TRIM60PY7 "tripartite motif-containing 60 pseudogene, Y-linked 7|tripartite motif-containing 60 pseudogene 7, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-19 100420370 NG_021929 PGOHUM00000233857 HGNC:38433 +HGNC:38458 TRIM60P8Y tripartite motif containing 60 pseudogene 8, Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 TRIM60P8 TRIM60PY8 "tripartite motif-containing 60 pseudogene, Y-linked 8|tripartite motif-containing 60 pseudogene 8, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-18 100420373 ENSG00000232764 OTTHUMG00000043859 NG_004755 PGOHUM00000234032 HGNC:38458 +HGNC:38459 TRIM60P9Y tripartite motif containing 60 pseudogene 9, Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 TRIM60P9 TRIM60PY9 "tripartite motif-containing 60 pseudogene, Y-linked 9|tripartite motif-containing 60 pseudogene 9, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-19 100420374 ENSG00000227251 OTTHUMG00000044063 NG_004755 PGOHUM00000234034 HGNC:38459 +HGNC:38462 TRIM60P10Y tripartite motif containing 60 pseudogene 10, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 TRIM60P10 TRIM60PY10 "tripartite motif-containing 60 pseudogene, Y-linked 10|tripartite motif-containing 60 pseudogene 10, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-18 100420376 ENSG00000232976 OTTHUMG00000045111 NG_004755 PGOHUM00000234065 HGNC:38462 +HGNC:38463 TRIM60P11Y tripartite motif containing 60 pseudogene 11, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 TRIM60P11 TRIM60PY11 "tripartite motif-containing 60 pseudogene, Y-linked 11|tripartite motif-containing 60 pseudogene 11, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-19 100420377 ENSG00000227837 OTTHUMG00000045204 NG_004755 PGOHUM00000234067 HGNC:38463 +HGNC:38465 TRIM60P12Y tripartite motif containing 60 pseudogene 12, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 TRIM60P12 TRIM60PY12 "tripartite motif-containing 60 pseudogene, Y-linked 12|tripartite motif-containing 60 pseudogene 12, Y-linked" 2010-05-12 2010-06-28 2011-01-25 2014-11-19 100420378 NG_004755 PGOHUM00000234070 HGNC:38465 +HGNC:38485 TRIM60P13 tripartite motif containing 60 pseudogene 13 pseudogene pseudogene Approved 13q31.2 13q31.2 tripartite motif-containing 60 pseudogene 13 2010-05-12 2011-01-25 2014-11-18 100132195 ENSG00000227247 OTTHUMG00000017174 NG_022984 PGOHUM00000248457 HGNC:38485 +HGNC:38486 TRIM60P14 tripartite motif containing 60 pseudogene 14 pseudogene pseudogene Approved 4q32.3 04q32.3 tripartite motif-containing 60 pseudogene 14 2010-05-12 2011-01-25 2014-11-18 653794 ENSG00000250227 OTTHUMG00000161253 NG_022090 PGOHUM00000246130 HGNC:38486 +HGNC:38487 TRIM60P15 tripartite motif containing 60 pseudogene 15 pseudogene pseudogene Approved 8q11.1 08q11.1 tripartite motif-containing 60 pseudogene 15 2010-05-12 2011-01-25 2014-11-19 100420405 ENSG00000250857 OTTHUMG00000160410 NG_022417 PGOHUM00000249648 HGNC:38487 +HGNC:38488 TRIM60P16 tripartite motif containing 60 pseudogene 16 pseudogene pseudogene Approved 7p11.2 07p11.2 tripartite motif-containing 60 pseudogene 16 2010-05-12 2011-01-25 2014-11-19 100420412 ENSG00000229909 OTTHUMG00000156293 NG_022536 PGOHUM00000232729 HGNC:38488 +HGNC:38489 TRIM60P17 tripartite motif containing 60 pseudogene 17 pseudogene pseudogene Approved 7q11.21 07q11.21 tripartite motif-containing 60 pseudogene 17 2010-05-12 2011-01-25 2014-11-19 100420414 ENSG00000223558 OTTHUMG00000156471 NG_022562 PGOHUM00000233351 HGNC:38489 +HGNC:38490 TRIM60P18 tripartite motif containing 60 pseudogene 18 pseudogene pseudogene Approved 7q11.21 07q11.21 tripartite motif-containing 60 pseudogene 18 2010-05-12 2011-01-25 2014-11-19 100420415 ENSG00000227986 OTTHUMG00000156540 NG_022564 PGOHUM00000233356 HGNC:38490 +HGNC:42010 TRIM60P19 tripartite motif containing 60 pseudogene 19 pseudogene pseudogene Approved 13q21.32 13q21.32 2011-05-31 2014-02-12 100533672 ENSG00000235737 OTTHUMG00000017033 NG_028899 PGOHUM00000256732 HGNC:42010 +HGNC:24339 TRIM61 tripartite motif containing 61 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 RNF35 "ring finger protein 35|tripartite motif-containing 61" "Ring finger proteins|Tripartite motif family" "58|59" 2004-11-19 2011-01-25 2018-11-19 391712 ENSG00000183439 OTTHUMG00000161266 uc003iqw.4 NM_001012414 CCDS34093 Q5EBN2 MGI:2387432 619417 HGNC:24339 "ENST00000329314.6|NM_001012414.3" +HGNC:25574 TRIM62 tripartite motif containing 62 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "FLJ10759|DEAR1" ductal epithelium-associated RING Chromosome 1 tripartite motif-containing 62 "Ring finger proteins|Tripartite motif family" "58|59" 2004-11-19 2011-01-25 2014-11-18 55223 ENSG00000116525 OTTHUMG00000004132 uc001bxb.4 BC007999 NM_018207 "CCDS81297|CCDS376" Q9BVG3 19536326 MGI:1914775 RGD:1586169 616755 HGNC:25574 "ENST00000291416.10|NM_018207.3" +HGNC:16007 TRIM63 tripartite motif containing 63 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "MURF-1|IRF|SMRZ" "muscle-specific RING finger protein 1|iris ring finger protein|striated muscle RING zinc finger protein" RNF28 "ring finger protein 28|tripartite motif containing 63, E3 ubiquitin protein ligase" "Ring finger proteins|Tripartite motif family" "58|59" 2001-07-02 2004-11-17 2016-03-11 2021-04-13 84676 ENSG00000158022 OTTHUMG00000007510 uc001bli.3 AF353673 NM_032588 CCDS273 Q969Q1 "11243782|11283016" MGI:2447992 RGD:619964 LRG_757|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_757.xml 606131 471258 HGNC:16007 "ENST00000374272.4|NM_032588.4" HGNC:16007 +HGNC:14663 TRIM64 tripartite motif containing 64 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 TRIM64A C11orf28 "chromosome 11 open reading frame 28|tripartite motif-containing 64" "Ring finger proteins|Tripartite motif family" "58|59" 2001-02-28 2004-11-17 2011-01-25 2018-11-19 120146 ENSG00000204450 OTTHUMG00000167648 uc010rty.3 AP001769 NM_001136486 CCDS73363 A6NGJ6 "MGI:3645218|MGI:3647365|MGI:3648996" PGOHUM00000257916 HGNC:14663 +HGNC:37147 TRIM64B tripartite motif containing 64B protein-coding gene gene with protein product Approved 11q14.3 11q14.3 tripartite motif-containing 64B "Ring finger proteins|Tripartite motif family" "58|59" 2009-07-24 2011-01-25 2015-09-08 642446 ENSG00000189253 OTTHUMG00000167638 uc021qoo.2 NM_001164397 CCDS53693 A6NI03 "MGI:3645218|MGI:3647365|MGI:3648996" HGNC:37147 +HGNC:37148 TRIM64C tripartite motif containing 64C protein-coding gene gene with protein product Approved 11p11.12 11p11.12 tripartite motif-containing 64C "Ring finger proteins|Tripartite motif family" "58|59" 2009-07-24 2011-01-25 2015-09-08 646754 ENSG00000214891 OTTHUMG00000166752 uc021qiy.1 NM_001206631 CCDS73287 A6NLI5 "MGI:3645218|MGI:3647365|MGI:3648996" HGNC:37148 "ENST00000617704.1|NM_001206631.1" +HGNC:43974 TRIM64DP tripartite motif containing 64D, pseudogene pseudogene pseudogene Approved 11q14.3 11q14.3 Tripartite motif family 59 2012-05-21 2012-11-02 727828 ENSG00000254751 OTTHUMG00000167631 NG_028916 PGOHUM00000257906 HGNC:43974 +HGNC:43975 TRIM64EP tripartite motif containing 64E, pseudogene pseudogene pseudogene Approved 11q14.3 11q14.3 Tripartite motif family 59 2012-05-21 2012-11-02 440061 ENSG00000223709 OTTHUMG00000167656 NG_028917 PGOHUM00000257857 HGNC:43975 +HGNC:43976 TRIM64FP tripartite motif containing 64F, pseudogene pseudogene pseudogene Approved 2q11.1 02q11.1 Tripartite motif family 59 2012-05-21 2012-11-02 390233 ENSG00000226185 OTTHUMG00000155177 NG_028781 PGOHUM00000240791 HGNC:43976 +HGNC:27316 TRIM65 tripartite motif containing 65 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 tripartite motif-containing 65 "Ring finger proteins|Tripartite motif family" "58|59" 2004-11-19 2011-01-25 2019-03-20 201292 ENSG00000141569 OTTHUMG00000132127 uc002jpx.4 BC006138 NM_173547 CCDS11732 Q6PJ69 "24778252|27012201" MGI:2442815 RGD:1559497 619408 HGNC:27316 "ENST00000269383.8|NM_173547.4" +HGNC:29005 TRIM66 tripartite motif containing 66 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "KIAA0298|TIF1D" C11orf29 "chromosome 11 open reading frame 29|tripartite motif-containing 66" "Tripartite motif family|PHD finger proteins|Bromodomain containing" "59|88|1232" 2004-11-19 2011-01-25 2018-11-22 9866 ENSG00000166436 OTTHUMG00000150481 uc057ysc.1 AB002296 NM_014818 O15016 9205841 MGI:2152406 RGD:1595847 612000 objectId:2783 HGNC:29005 "ENST00000646038.2|NM_001388022.1" +HGNC:31859 TRIM67 tripartite motif containing 67 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 TNL tripartite motif-containing 67 "Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing" "58|59|555" 2004-11-19 2011-01-25 2014-11-19 440730 ENSG00000119283 OTTHUMG00000037958 uc009xfn.2 AK126782 NM_001004342 "CCDS73048|CCDS44333" Q6ZTA4 MGI:3045323 RGD:1560667 610584 HGNC:31859 "ENST00000366653.6|NM_001004342.5" +HGNC:41282 TRIM67-AS1 TRIM67 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q42.2 01q42.2 Antisense RNAs 1987 2020-04-01 2020-04-01 149373 ENSG00000235710 OTTHUMG00000037959 NR_166514 +HGNC:21161 TRIM68 tripartite motif containing 68 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "SS-56|FLJ10369" RNF137 "ring finger protein 137|tripartite motif-containing 68" "Ring finger proteins|Tripartite motif family" "58|59" 2003-05-21 2004-11-17 2011-01-25 2020-04-01 55128 ENSG00000167333 OTTHUMG00000165723 uc001lzf.2 AF360739 NM_018073 CCDS31356 Q6AZZ1 11597395 MGI:2142077 RGD:1593867 613184 HGNC:21161 "ENST00000300747.10|NM_018073.8" +HGNC:17857 TRIM69 tripartite motif containing 69 protein-coding gene gene with protein product Approved 15q15-q21 15q15-q21 "Trif|TRIMLESS" RNF36 "ring finger protein 36|tripartite motif-containing 69" "Ring finger proteins|Tripartite motif family" "58|59" 2002-01-10 2006-09-26 2011-01-25 2015-08-26 140691 ENSG00000185880 OTTHUMG00000131246 uc001zuf.3 AF302088 NM_001301144 "CCDS10114|CCDS32220|CCDS73719|CCDS76745|CCDS76746" Q86WT6 MGI:1918178 RGD:1305074 616017 HGNC:17857 "ENST00000329464.9|NM_182985.5" +HGNC:32669 TRIM71 tripartite motif containing 71 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 "LIN41|LIN-41" tripartite motif containing 71, E3 ubiquitin protein ligase "Ring finger proteins|Tripartite motif family" "58|59" 2006-03-30 2016-06-30 2016-06-30 131405 ENSG00000206557 OTTHUMG00000155778 uc003cff.4 NM_001039111 CCDS43060 Q2Q1W2 MGI:2685973 RGD:1566388 618570 HGNC:32669 "ENST00000383763.6|NM_001039111.3" HGNC:32669 +HGNC:32671 TRIM72 tripartite motif containing 72 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MG53 mitsugumin 53 "tripartite motif-containing 72|tripartite motif containing 72, E3 ubiquitin protein ligase" "Ring finger proteins|Tripartite motif family" "58|59" 2006-03-30 2016-03-22 2020-04-01 493829 ENSG00000177238 OTTHUMG00000176754 uc002ebn.3 AK090695 NM_001008274 CCDS32437 Q6ZMU5 "20399744|23354051" MGI:3612190 RGD:1562778 613288 HGNC:32671 "ENST00000322122.8|NM_001008274.4" +HGNC:18162 TRIM73 tripartite motif containing 73 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 TRIM50B "tripartite motif-containing 50B|tripartite motif-containing 73" "Ring finger proteins|Tripartite motif family" "58|59" 2002-08-29 2006-03-31 2011-01-25 2016-10-25 375593 ENSG00000178809 OTTHUMG00000156075 uc003udc.2 AF498998 NM_198924 CCDS34665 Q86UV7 MGI:2664992 612549 HGNC:18162 +HGNC:17453 TRIM74 tripartite motif containing 74 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 MGC45440 TRIM50C "tripartite motif-containing 50C|tripartite motif-containing 74" "Ring finger proteins|Tripartite motif family" "58|59" 2002-08-29 2006-03-31 2011-01-25 2015-09-08 378108 ENSG00000155428 OTTHUMG00000129851 uc022afm.3 AF498999 NM_198853 CCDS5545 Q86UV6 MGI:2664992 612550 HGNC:17453 "ENST00000285805.3|NM_198853.3" +HGNC:32686 TRIM75 tripartite motif containing 75 protein-coding gene gene with protein product Approved 4q32.3 04q32.3 TRIM75P "tripartite motif-containing 75|tripartite motif containing 75, pseudogene" "Ring finger proteins|Tripartite motif family" "58|59" 2006-04-05 2021-09-28 2021-09-28 2021-09-28 391714 ENSG00000250374 OTTHUMG00000161257 NM_001396070 A6NK02 MGI:2685640 HGNC:32686 +HGNC:34228 TRIM77 tripartite motif containing 77 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 TRIM77P "tripartite motif-containing 77|tripartite motif containing 77, pseudogene" "Ring finger proteins|Tripartite motif family" "58|59" 2008-05-29 2013-01-14 2013-01-14 2014-02-17 390231 ENSG00000214414 OTTHUMG00000167624 uc010rtw.2 NM_001146162 CCDS60929 I1YAP6 "MGI:3645218|MGI:3647365|MGI:3648996" PGOHUM00000257902 HGNC:34228 "ENST00000398290.7|NM_001146162.1" +HGNC:43980 TRIM77BP tripartite motif containing 77B, pseudogene pseudogene pseudogene Approved 11p11.12 11p11.12 2014-04-01 2014-04-01 2014-04-01 646770 ENSG00000254993 OTTHUMG00000166641 NG_028906 PGOHUM00000242237 HGNC:43980 +HGNC:51490 TRIM80P tripartite motif containing 80, pseudogene pseudogene pseudogene Approved 17q25.1 17q25.1 TRIM47LP 2015-01-19 2015-01-19 106480328 ENSG00000232724 OTTHUMG00000154700 NG_044485 MGI:3588186 HGNC:51490 +HGNC:26698 TRIML1 tripartite motif family like 1 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 "FLJ36180|RNF209" Ring finger proteins 58 2007-02-01 2015-11-13 2019-03-20 339976 ENSG00000184108 OTTHUMG00000160237 uc003izm.2 AK093499 NM_178556 CCDS3851 Q8N9V2 19156909 MGI:2687279 RGD:1305337 HGNC:26698 "ENST00000332517.4|NM_178556.5" +HGNC:26378 TRIML2 tripartite motif family like 2 protein-coding gene gene with protein product Approved 4q35.2 04q35.2 "FLJ25801|SPRYD6" SPRY domain containing 6 2007-12-14 2015-11-13 2015-11-13 205860 ENSG00000179046 OTTHUMG00000160225 uc003izl.4 AK098667 NM_173553 CCDS3850 Q8N7C3 MGI:3642989 RGD:1565382 HGNC:26378 "ENST00000682553.1|NM_173553.4" +HGNC:12303 TRIO trio Rho guanine nucleotide exchange factor protein-coding gene gene with protein product Approved 5p15.2 05p15.2 ARHGEF23 triple functional domain (PTPRF interacting) "I-set domain containing|Dbl family Rho GEFs" "593|722" 1997-01-29 2012-07-12 2016-10-05 7204 ENSG00000038382 OTTHUMG00000131057 uc003jff.4 AF091395 NM_007118 CCDS3883 O75962 8643598 MGI:1927230 RGD:1308360 601893 471260 objectId:2255 HGNC:12303 "ENST00000344204.9|NM_007118.4" HGNC:12303 +HGNC:17009 TRIOBP TRIO and F-actin binding protein protein-coding gene gene with protein product Approved 22q13.1 22q13.1 "HRIHFB2122|KIAA1662|Tara|TAP68" DFNB28 Pleckstrin homology domain containing 682 2005-10-04 2014-11-18 11078 ENSG00000100106 OTTHUMG00000150657 uc003atv.4 AB051449 NM_001039141 "CCDS43015|CCDS33644|CCDS43016" Q9H2D6 "11148140|16385457|16385458" MGI:1349410 RGD:1308485 609761 159213 HGNC:17009 "ENST00000644935.1|NM_001039141.3" HGNC:17009 +HGNC:12310 TRIP4 thyroid hormone receptor interactor 4 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "HsT17391|ZC2HC5|ASC-1" "zinc finger, C2HC5-type|Activating Signal Cointegrator-1" "Zinc fingers|Activating signal cointegrator 1 complex" "26|1916" 1999-03-19 2018-08-14 9325 ENSG00000103671 OTTHUMG00000133033 uc002anm.3 L40371 NM_016213 CCDS10194 Q15650 "7776974|12077347" MGI:1928469 RGD:1306838 604501 471264 HGNC:12310 "ENST00000261884.8|NM_016213.5" HGNC:12310 +HGNC:12311 TRIP6 thyroid hormone receptor interactor 6 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "ZRP-1|OIP1|MGC10556|MGC10558|MGC29959|MGC3837|MGC4423" "Zyxin family|MicroRNA protein coding host genes" "1402|1691" 1997-10-16 2016-10-05 7205 ENSG00000087077 OTTHUMG00000157029 uc003uww.4 "L40374|AF000974" NM_003302 CCDS5708 Q15654 "9598321|7776974" MGI:1343458 RGD:1583180 602933 HGNC:12311 "ENST00000200457.9|NM_003302.3" +HGNC:12304 TRIP10 thyroid hormone receptor interactor 10 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "STP|HSTP|CIP4" Cdc42-interacting protein STOT salt tolerator "Minor histocompatibility antigens|F-BAR domain containing " "870|1288" 1999-06-14 2014-11-18 9322 ENSG00000125733 OTTHUMG00000150255 uc002mfr.5 AB072596 NM_001288962 "CCDS12172|CCDS74271|CCDS74272" Q15642 "7776974|9210375|11294612" MGI:2146901 RGD:621145 604504 HGNC:12304 "ENST00000313244.14|NM_001288962.2" +HGNC:12305 TRIP11 thyroid hormone receptor interactor 11 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 "CEV14|Trip230|GMAP-210|GMAP210" golgi-microtubule-associated-protein of 210 kDa Golgins 1084 1999-03-19 2017-07-07 9321 ENSG00000100815 OTTHUMG00000171128 uc001xzy.4 L40380 NM_001321851 CCDS9899 Q15643 "7776974|9373237" MGI:1924393 RGD:1586166 TRIP11 604505 225372 HGNC:12305 "ENST00000267622.8|NM_004239.4" HGNC:12305 +HGNC:12306 TRIP12 thyroid hormone receptor interactor 12 protein-coding gene gene with protein product Approved 2q36.3 02q36.3 "KIAA0045|ULF|TRIPC" E3 ubiquitin-protein ligase for Arf "Armadillo like helical domain containing|HECT domain containing" "1492|1959" 1999-03-19 2019-09-17 9320 ENSG00000153827 OTTHUMG00000153623 uc002vpw.3 L40383 NM_004238 "CCDS33391|CCDS63146|CCDS63145" Q14669 "7776974|27800609|28251352" MGI:1309481 RGD:1306607 604506 471262 HGNC:12306 "ENST00000675903.1|NM_001348323.3" HGNC:12306 +HGNC:12307 TRIP13 thyroid hormone receptor interactor 13 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 16E1BP thyroid receptor interacting protein 13 AAA ATPases 413 2000-01-04 2016-10-05 9319 ENSG00000071539 OTTHUMG00000090349 uc003jbr.4 L40384 NM_004237 CCDS3858 Q15645 7776974 MGI:1916966 RGD:1308516 604507 HGNC:12307 "ENST00000166345.8|NM_004237.4" HGNC:12307 +HGNC:27828 TRIQK triple QxxK/R motif containing protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "DKFZp779L1068|PRO0845|LOC286144" C8orf83 chromosome 8 open reading frame 83 2008-08-12 2012-04-18 2012-04-18 2015-09-08 286144 ENSG00000205133 OTTHUMG00000164162 uc064omt.1 "AK096398|BC110326|BC031029|BC065838" NM_001171795 CCDS55261 Q629K1 18828657 MGI:3650048 RGD:1561260 HGNC:27828 "ENST00000521988.6|NM_001171797.2" +HGNC:28424 TRIR telomerase RNA component interacting RNase protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "MGC2803|fSAP18|TERCIR" functional spliceosome-associated protein 18 C19orf43 chromosome 19 open reading frame 43 2006-04-04 2017-05-23 2017-05-23 2017-05-23 79002 ENSG00000123144 OTTHUMG00000180347 uc002muu.4 AK027588 NM_024038 "CCDS12279|CCDS86709|CCDS86710" Q9BQ61 28322335 MGI:1922833 RGD:1564093 HGNC:28424 "ENST00000242784.5|NM_024038.4" +HGNC:20286 TRIT1 tRNA isopentenyltransferase 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FLJ20061|IPT" "IPP transferase|tRNA dimethylallyltransferase" 2004-01-15 2021-05-26 54802 ENSG00000043514 OTTHUMG00000009245 uc057fcv.1 AF074918 NM_017646 "CCDS30681|CCDS81303|CCDS81302" Q9H3H1 "11111046|15870694" MGI:1914216 RGD:1304781 617840 471266 2.5.1.75 HGNC:20286 "ENST00000316891.10|NM_017646.6" HGNC:20286 +HGNC:34668 TRK-CTT1-1 tRNA-Lys (anticodon CTT) 1-1 non-coding RNA RNA, transfer Approved 14q23.1 14q23.1 tRNA-Lys-CTT-1-1 TRNAK13 "transfer RNA lysine 13 (anticodon CUU)|transfer RNA-Lys (CTT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189107 HG983908 tRNA-Lys-CTT-1-1 HGNC:34668 +HGNC:34572 TRK-CTT1-2 tRNA-Lys (anticodon CTT) 1-2 non-coding RNA RNA, transfer Approved 15q25.1 15q25.1 tRNA-Lys-CTT-1-2 TRNAK6 "transfer RNA lysine 6 (anticodon CUU)|transfer RNA-Lys (CTT) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189013 HG983909 tRNA-Lys-CTT-1-2 HGNC:34572 +HGNC:34761 TRK-CTT2-1 tRNA-Lys (anticodon CTT) 2-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Lys-CTT-2-1 TRNAK20 "transfer RNA lysine 20 (anticodon CUU)|transfer RNA-Lys (CTT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189198 HG983910 tRNA-Lys-CTT-2-1 HGNC:34761 +HGNC:34967 TRK-CTT2-2 tRNA-Lys (anticodon CTT) 2-2 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Lys-CTT-2-2 "TRNAK33|TRK-CTT2-3" "transfer RNA lysine 33 (anticodon CUU)|transfer RNA-Lys (CTT) 2-3|transfer RNA-Lys (CTT) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189399 HG983912 tRNA-Lys-CTT-2-2 HGNC:34967 +HGNC:33199 TRK-CTT2-3 tRNA-Lys (anticodon CTT) 2-3 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Lys-CTT-2-3 "TRK2|TRNAK2|TRK-CTT2-4" "tRNA lysine 2 (anticodon CUU)|transfer RNA lysine 2 (anticodon CUU)|transfer RNA-Lys (CTT) 2-4|transfer RNA-Lys (CTT) 2-3" Cytoplasmic transfer RNAs 842 2006-12-13 2016-02-15 2019-04-04 2019-04-04 790966 HG983913 2766931 612996 tRNA-Lys-CTT-2-3 HGNC:33199 +HGNC:34671 TRK-CTT2-4 tRNA-Lys (anticodon CTT) 2-4 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Lys-CTT-2-4 "TRNAK14|TRK-CTT2-5" "transfer RNA lysine 14 (anticodon CUU)|transfer RNA-Lys (CTT) 2-5|transfer RNA-Lys (CTT) 2-4" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189110 HG983914 tRNA-Lys-CTT-2-4 HGNC:34671 +HGNC:34848 TRK-CTT2-5 tRNA-Lys (anticodon CTT) 2-5 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Lys-CTT-2-5 "TRNAK26|TRK-CTT2-2" "transfer RNA lysine 26 (anticodon CUU)|transfer RNA-Lys (CTT) 2-2|transfer RNA-Lys (CTT) 2-5" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189282 HG983911 tRNA-Lys-CTT-2-5 HGNC:34848 +HGNC:34681 TRK-CTT3-1 tRNA-Lys (anticodon CTT) 3-1 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Lys-CTT-3-1 TRNAK15 "transfer RNA lysine 15 (anticodon CUU)|transfer RNA-Lys (CTT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189119 HG983915 tRNA-Lys-CTT-3-1 HGNC:34681 +HGNC:34621 TRK-CTT4-1 tRNA-Lys (anticodon CTT) 4-1 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Lys-CTT-4-1 TRNAK9 "transfer RNA lysine 9 (anticodon CUU)|transfer RNA-Lys (CTT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189062 HG983916 tRNA-Lys-CTT-4-1 HGNC:34621 +HGNC:34772 TRK-CTT5-1 tRNA-Lys (anticodon CTT) 5-1 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Lys-CTT-5-1 TRNAK21 "transfer RNA lysine 21 (anticodon CUU)|transfer RNA-Lys (CTT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189209 HG983917 tRNA-Lys-CTT-5-1 HGNC:34772 +HGNC:34552 TRK-CTT6-1 tRNA-Lys (CTT) 6-1 non-coding RNA RNA, transfer Approved 18q21.1 18q21.1 tRNA-Lys-CTT-6-1 TRNAK4 "transfer RNA lysine 4 (anticodon CUU)|transfer RNA-Lys (CTT) 6-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-20 2018-11-20 100188995 HG983918 tRNA-Lys-CTT-6-1 HGNC:34552 +HGNC:35098 TRK-CTT7-1 tRNA-Lys (anticodon CTT) 7-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Lys-CTT-7-1 "TRNAL48|TRNAQ49P" "transfer RNA glutamine 49 (anticodon CUG) pseudogene|transfer RNA-Lys (CTT) 7-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2020-02-13 107985760 HG983919 tRNA-Lys-CTT-7-1 HGNC:35098 +HGNC:34807 TRK-CTT8-1 tRNA-Lys (anticodon CTT) 8-1 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Lys-CTT-8-1 TRNAK24 "transfer RNA lysine 24 (anticodon CUU)|transfer RNA-Lys (CTT) 8-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189244 HG983920 tRNA-Lys-CTT-8-1 +HGNC:34742 TRK-CTT9-1 tRNA-Lys (anticodon CTT) 9-1 non-coding RNA RNA, transfer Approved 5p14.1 05p14.1 tRNA-Lys-CTT-9-1 TRNAK18 "transfer RNA lysine 18 (anticodon CUU)|transfer RNA-Lys (CTT) 9-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189180 HG983921 tRNA-Lys-CTT-9-1 +HGNC:34935 TRK-CTT10-1 tRNA-Lys (anticodon CTT) 10-1 non-coding RNA RNA, transfer Approved 19q13.12 19q13.12 tRNA-Lys-CTT-10-1 TRNAK30 "transfer RNA lysine 30 (anticodon CUU)|transfer RNA-Lys (CTT) 10-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189367 HG983922 tRNA-Lys-CTT-10-1 +HGNC:34878 TRK-CTT11-1 tRNA-Lys (anticodon CTT) 11-1 non-coding RNA RNA, transfer Approved 19q13.41 19q13.41 tRNA-Lys-CTT-11-1 TRNAK28 "transfer RNA lysine 28 (anticodon CUU)|transfer RNA-Lys (CTT) 11-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189311 HG983923 tRNA-Lys-CTT-11-1 +HGNC:35036 TRK-CTT12-1 tRNA-Lys (anticodon CTT) 12-1 pseudogene pseudogene Approved 1p34.3 01p34.3 tRNA-Lys-CTT-12-1 TRNAK36P "transfer RNA lysine 36 (anticodon CUU) pseudogene|transfer RNA-Lys (CTT) 12-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189464 HG983924 NG_008522 tRNA-Lys-CTT-12-1 HGNC:35036 +HGNC:35009 TRK-CTT13-1 tRNA-Lys (anticodon CTT) 13-1 pseudogene pseudogene Approved 1q24.1 01q24.1 tRNA-Lys-CTT-13-1 TRNAK35P "transfer RNA lysine 35 (anticodon CUU) pseudogene|transfer RNA-Lys (CTT) 13-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189439 HG983925 NG_008599 tRNA-Lys-CTT-13-1 HGNC:35009 +HGNC:35039 TRK-CTT14-1 tRNA-Lys (anticodon CTT) 14-1 pseudogene pseudogene Approved 16p13.3 16p13.3 tRNA-Lys-CTT-14-1 TRNAK37P "transfer RNA lysine 37 (anticodon CUU) pseudogene|transfer RNA-Lys (CTT) 14-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189467 HG983926 NG_008525 tRNA-Lys-CTT-14-1 HGNC:35039 +HGNC:34556 TRK-CTT15-1 tRNA-Lys (anticodon CTT) 15-1 pseudogene pseudogene Approved 11 11 tRNA-Lys-CTT-15-1 TRNAK5 "transfer RNA lysine 5 (anticodon CUU)|transfer RNA-Lys (CTT) 15-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100188999 HG983927 tRNA-Lys-CTT-15-1 +HGNC:35113 TRK-CTT16-1 tRNA-Lys (anticodon CTT) 16-1 pseudogene pseudogene Approved 15q24.3 15q24.3 tRNA-Lys-CTT-16-1 TRNAK42P "transfer RNA lysine 42 (anticodon CUU) pseudogene|transfer RNA-Lys (CTT) 16-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189536 HG983928 NG_008594 tRNA-Lys-CTT-16-1 HGNC:35113 +HGNC:34687 TRK-TTT1-1 tRNA-Lys (anticodon TTT) 1-1 non-coding RNA RNA, transfer Approved 16q22.3 16q22.3 tRNA-Lys-TTT-1-1 TRNAK17 "transfer RNA lysine 17 (anticodon UUU)|transfer RNA-Lys (TTT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189125 HG983929 tRNA-Lys-TTT-1-1 HGNC:34687 +HGNC:34860 TRK-TTT2-1 tRNA-Lys (anticodon TTT) 2-1 non-coding RNA RNA, transfer Approved 11q24.1 11q24.1 tRNA-Lys-TTT-2-1 TRNAK27 "transfer RNA lysine 27 (anticodon UUU)|transfer RNA-Lys (TTT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189294 HG983930 tRNA-Lys-TTT-2-1 HGNC:34860 +HGNC:34684 TRK-TTT3-1 tRNA-Lys (anticodon TTT) 3-1 non-coding RNA RNA, transfer Approved 1q32.1 01q32.1 tRNA-Lys-TTT-3-1 TRNAK16 "transfer RNA lysine 16 (anticodon UUU)|transfer RNA-Lys (TTT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189122 HG983931 tRNA-Lys-TTT-3-1 HGNC:34684 +HGNC:34994 TRK-TTT3-2 tRNA-Lys (anticodon TTT) 3-2 non-coding RNA RNA, transfer Approved 1q32.1 01q32.1 tRNA-Lys-TTT-3-2 TRNAK34 "transfer RNA lysine 34 (anticodon UUU)|transfer RNA-Lys (TTT) 3-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189425 HG983932 tRNA-Lys-TTT-3-2 HGNC:34994 +HGNC:34797 TRK-TTT3-3 tRNA-Lys (anticodon TTT) 3-3 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Lys-TTT-3-3 "TRNAK22|TRK-TTT3-5" "transfer RNA lysine 22 (anticodon UUU)|transfer RNA-Lys (TTT) 3-5|transfer RNA-Lys (TTT) 3-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189234 HG983935 tRNA-Lys-TTT-3-3 HGNC:34797 +HGNC:33256 TRK-TTT3-4 tRNA-Lys (anticodon TTT) 3-4 non-coding RNA RNA, transfer Approved 11q12.1 11q12.1 tRNA-Lys-TTT-3-4 "TRNAK3|TRK-TTT3-3" "transfer RNA lysine 3 (anticodon UUU)|transfer RNA-Lys (TTT) 3-3|transfer RNA-Lys (TTT) 3-4" Cytoplasmic transfer RNAs 842 2007-02-01 2016-02-15 2019-04-04 2019-04-04 100049613 HG983933 3678837 tRNA-Lys-TTT-3-4 HGNC:33256 +HGNC:12314 TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Lys-TTT-3-5 "TRK1|TRNAK1|TRK-TTT3-4" "tRNA lysine 1|tRNA lysine 1 (anticodon UUU)|transfer RNA lysine 1 (anticodon UUU)|transfer RNA-Lys (TTT) 3-4|transfer RNA-Lys (TTT) 3-5" Cytoplasmic transfer RNAs 842 1989-06-30 2016-02-15 2019-04-04 2019-04-04 7206 HG983934 6296772 189918 tRNA-Lys-TTT-3-5 HGNC:12314 +HGNC:34612 TRK-TTT4-1 tRNA-Lys (anticodon TTT) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Lys-TTT-4-1 TRNAK8 "transfer RNA lysine 8 (anticodon UUU)|transfer RNA-Lys (TTT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189053 HG983936 tRNA-Lys-TTT-4-1 HGNC:34612 +HGNC:34801 TRK-TTT5-1 tRNA-Lys (anticodon TTT) 5-1 non-coding RNA RNA, transfer Approved 11q12.1 11q12.1 tRNA-Lys-TTT-5-1 TRNAK23 "transfer RNA lysine 23 (anticodon UUU)|transfer RNA-Lys (TTT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189238 HG983937 tRNA-Lys-TTT-5-1 HGNC:34801 +HGNC:34745 TRK-TTT6-1 tRNA-Lys (anticodon TTT) 6-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Lys-TTT-6-1 TRNAK19 "transfer RNA lysine 19 (anticodon UUU)|transfer RNA-Lys (TTT) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189182 HG983938 tRNA-Lys-TTT-6-1 HGNC:34745 +HGNC:34900 TRK-TTT7-1 tRNA-Lys (anticodon TTT) 7-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Lys-TTT-7-1 TRNAK29 "transfer RNA lysine 29 (anticodon UUU)|transfer RNA-Lys (TTT) 7-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189332 HG983939 tRNA-Lys-TTT-7-1 HGNC:34900 +HGNC:34659 TRK-TTT8-1 tRNA-Lys (TTT) 8-1 non-coding RNA RNA, transfer Approved 1q32.1 01q32.1 tRNA-Lys-TTT-8-1 TRNAK11 "transfer RNA lysine 11 (anticodon UUU)|transfer RNA-Lys (TTT) 8-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-20 2018-11-20 100189098 HG983940 tRNA-Lys-TTT-8-1 HGNC:34659 +HGNC:34958 TRK-TTT9-1 tRNA-Lys (TTT) 9-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Lys-TTT-9-1 TRNAK31 "transfer RNA lysine 31 (anticodon UUU)|transfer RNA-Lys (TTT) 9-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-20 2018-11-20 100189390 HG983941 tRNA-Lys-TTT-9-1 HGNC:34958 +HGNC:35053 TRK-TTT10-1 tRNA-Lys (anticodon TTT) 10-1 pseudogene pseudogene Approved 19q13.2 19q13.2 tRNA-Lys-TTT-10-1 TRNAK38P "transfer RNA lysine 38 (anticodon UUU) pseudogene|transfer RNA-Lys (TTT) 10-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189480 HG983942 NG_008538 tRNA-Lys-TTT-10-1 HGNC:35053 +HGNC:34665 TRK-TTT11-1 tRNA-Lys (anticodon TTT) 11-1 non-coding RNA RNA, transfer Approved 12p11.22 12p11.22 tRNA-Lys-TTT-11-1 TRNAK12 "transfer RNA lysine 12 (anticodon UUU)|transfer RNA-Lys (TTT) 11-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189104 HG983943 tRNA-Lys-TTT-11-1 +HGNC:34610 TRK-TTT12-1 tRNA-Lys (anticodon TTT) 12-1 pseudogene pseudogene Approved 19 19 tRNA-Lys-TTT-12-1 TRNAK7 "transfer RNA lysine 7 (anticodon UUU)|transfer RNA-Lys (TTT) 12-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189051 HG983944 tRNA-Lys-TTT-12-1 +HGNC:35116 TRK-TTT13-1 tRNA-Lys (anticodon TTT) 13-1 pseudogene pseudogene Approved 6p22.1 06p22.1 tRNA-Lys-TTT-13-1 TRNAK43P "transfer RNA lysine 43 (anticodon UUU) pseudogene|transfer RNA-Lys (TTT) 13-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189539 HG983945 NG_008597 tRNA-Lys-TTT-13-1 HGNC:35116 +HGNC:35089 TRK-TTT14-1 tRNA-Lys (TTT) 14-1 non-coding RNA RNA, transfer Approved 14q24.3 14q24.3 tRNA-Lys-TTT-14-1 TRNAK40P "transfer RNA lysine 40 (anticodon UUU) pseudogene|transfer RNA-Lys (TTT) 14-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-20 2018-11-20 100189514 HG983946 NG_008572 tRNA-Lys-TTT-14-1 HGNC:35089 +HGNC:35079 TRK-TTT15-1 tRNA-Lys (anticodon TTT) 15-1 pseudogene pseudogene Approved 2q36.1 02q36.1 tRNA-Lys-TTT-15-1 TRNAK39P "transfer RNA lysine 39 (anticodon UUU) pseudogene|transfer RNA-Lys (TTT) 15-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189504 HG983947 NG_008562 tRNA-Lys-TTT-15-1 HGNC:35079 +HGNC:34960 TRK-TTT16-1 tRNA-Lys (TTT) 16-1 non-coding RNA RNA, transfer Approved 19p13.11 19p13.11 tRNA-Lys-TTT-16-1 TRNAK32 "transfer RNA lysine 32 (anticodon UUU)|transfer RNA-Lys (TTT) 16-1" 2008-08-29 2014-06-19 2018-11-20 2018-11-20 100189392 HG983948 tRNA-Lys-TTT-16-1 +HGNC:35094 TRK-TTT17-1 tRNA-Lys (TTT) 17-1 non-coding RNA RNA, transfer Approved 8p22 08p22 tRNA-Lys-TTT-17-1 TRNAK41P "transfer RNA lysine 41 (anticodon UUU) pseudogene|transfer RNA-Lys (TTT) 17-1" 2008-08-29 2014-06-19 2018-11-20 2018-11-20 100189519 HG983949 NG_008577 tRNA-Lys-TTT-17-1 HGNC:35094 +HGNC:34930 TRL-AAG1-1 tRNA-Leu (anticodon AAG) 1-1 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Leu-AAG-1-1 TRNAL34 "transfer RNA leucine 34 (anticodon AAG)|transfer RNA-Leu (AAG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189362 HG983868 tRNA-Leu-AAG-1-1 HGNC:34930 +HGNC:34836 TRL-AAG1-2 tRNA-Leu (anticodon AAG) 1-2 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Leu-AAG-1-2 TRNAL24 "transfer RNA leucine 24 (anticodon AAG)|transfer RNA-Leu (AAG) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189273 HG983869 tRNA-Leu-AAG-1-2 HGNC:34836 +HGNC:34561 TRL-AAG1-3 tRNA-Leu (anticodon AAG) 1-3 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Leu-AAG-1-3 TRNAL4 "transfer RNA leucine 4 (anticodon AAG)|transfer RNA-Leu (AAG) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189004 HG983870 tRNA-Leu-AAG-1-3 HGNC:34561 +HGNC:34895 TRL-AAG2-1 tRNA-Leu (anticodon AAG) 2-1 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Leu-AAG-2-1 "TRNAL32|TRL-AAG2-3" "transfer RNA leucine 32 (anticodon AAG)|transfer RNA-Leu (AAG) 2-3|transfer RNA-Leu (AAG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189328 HG983873 tRNA-Leu-AAG-2-1 HGNC:34895 +HGNC:34765 TRL-AAG2-2 tRNA-Leu (anticodon AAG) 2-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Leu-AAG-2-2 "TRNAL20|TRL-AAG2-4" "transfer RNA leucine 20 (anticodon AAG)|transfer RNA-Leu (AAG) 2-4|transfer RNA-Leu (AAG) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189202 HG983874 tRNA-Leu-AAG-2-2 HGNC:34765 +HGNC:12315 TRL-AAG2-3 tRNA-Leu (anticodon AAG) 2-3 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Leu-AAG-2-3 "TRNP1|TRL1|TRNAL1|TRL-AAG2-1" "tRNA leucine 1|transfer RNA leucine 1 (anticodon CUU)|transfer RNA leucine 1 (anticodon AAG)|transfer RNA-Leu (AAG) 2-1|transfer RNA-Leu (AAG) 2-3" Cytoplasmic transfer RNAs 842 1989-06-30 2016-02-15 2019-04-04 2019-04-04 7207 HG983871 1686015 189932 tRNA-Leu-AAG-2-3 HGNC:12315 +HGNC:34857 TRL-AAG2-4 tRNA-Leu (anticodon AAG) 2-4 non-coding RNA RNA, transfer Approved 16p12.2 16p12.2 tRNA-Leu-AAG-2-4 "TRNAL27|TRL-AAG2-2" "transfer RNA leucine 27 (anticodon AAG)|transfer RNA-Leu (AAG) 2-2|transfer RNA-Leu (AAG) 2-4" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-04 2019-04-04 100189291 HG983872 tRNA-Leu-AAG-2-4 HGNC:34857 +HGNC:34731 TRL-AAG3-1 tRNA-Leu (anticodon AAG) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Leu-AAG-3-1 TRNAL17 "transfer RNA leucine 17 (anticodon AAG)|transfer RNA-Leu (AAG) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189169 HG983875 tRNA-Leu-AAG-3-1 HGNC:34731 +HGNC:34680 TRL-AAG4-1 tRNA-Leu (anticodon AAG) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Leu-AAG-4-1 TRNAL12 "transfer RNA leucine 12 (anticodon AAG)|transfer RNA-Leu (AAG) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189118 HG983876 tRNA-Leu-AAG-4-1 HGNC:34680 +HGNC:34602 TRL-AAG5-1 tRNA-Leu (AAG) 5-1 non-coding RNA RNA, transfer Approved 2p23.1 02p23.1 tRNA-Leu-AAG-5-1 TRNAL9 "transfer RNA leucine 9 (anticodon AAG)|transfer RNA-Leu (AAG) 5-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-21 2018-11-21 100189043 HG983877 tRNA-Leu-AAG-5-1 +HGNC:34998 TRL-AAG6-1 tRNA-Leu (anticodon AAG) 6-1 pseudogene pseudogene Approved 20 20 tRNA-Leu-AAG-6-1 TRNAL39 "transfer RNA leucine 39 (anticodon AAG)|transfer RNA-Leu (AAG) 6-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189429 HG983878 tRNA-Leu-AAG-6-1 +HGNC:35068 TRL-AAG7-1 tRNA-Leu (anticodon AAG) 7-1 pseudogene pseudogene Approved 5q35.3 05q35.3 tRNA-Leu-AAG-7-1 TRNAL43P "transfer RNA leucine 43 (anticodon AAG) pseudogene|transfer RNA-Leu (AAG) 7-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189493 HG983879 NG_008551 tRNA-Leu-AAG-7-1 HGNC:35068 +HGNC:34917 TRL-AAG8-1 tRNA-Leu (AAG) 8-1 non-coding RNA RNA, transfer Approved 3q24 03q24 tRNA-Leu-AAG-8-1 TRNAL33 "transfer RNA leucine 33 (anticodon AAG)|transfer RNA-Leu (AAG) 8-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-21 2018-11-21 100189349 HG983880 tRNA-Leu-AAG-8-1 +HGNC:38583 TRL-CAA1-1 tRNA-Leu (anticodon CAA) 1-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Leu-CAA-1-1 TRNAL49 "transfer RNA leucine 49 (anticodon CAA)|transfer RNA-Leu (CAA) 1-1" Cytoplasmic transfer RNAs 842 2010-06-23 2014-06-19 2019-04-04 2020-02-13 107987402 HG983881 tRNA-Leu-CAA-1-1 +HGNC:34800 TRL-CAA1-2 tRNA-Leu (anticodon CAA) 1-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Leu-CAA-1-2 TRNAL22 "transfer RNA leucine 22 (anticodon CAA)|transfer RNA-Leu (CAA) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189237 HG983882 tRNA-Leu-CAA-1-2 HGNC:34800 +HGNC:34867 TRL-CAA2-1 tRNA-Leu (anticodon CAA) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Leu-CAA-2-1 TRNAL28 "transfer RNA leucine 28 (anticodon CAA)|transfer RNA-Leu (CAA) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189301 HG983883 tRNA-Leu-CAA-2-1 HGNC:34867 +HGNC:34597 TRL-CAA3-1 tRNA-Leu (anticodon CAA) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Leu-CAA-3-1 TRNAL8 "transfer RNA leucine 8 (anticodon CAA)|transfer RNA-Leu (CAA) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189038 HG983884 tRNA-Leu-CAA-3-1 HGNC:34597 +HGNC:34762 TRL-CAA4-1 tRNA-Leu (anticodon CAA) 4-1 non-coding RNA RNA, transfer Approved 1q44 01q44 tRNA-Leu-CAA-4-1 TRNAL19 "transfer RNA leucine 19 (anticodon CAA)|transfer RNA-Leu (CAA) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189199 HG983885 tRNA-Leu-CAA-4-1 HGNC:34762 +HGNC:34938 TRL-CAA5-1 tRNA-Leu (CAA) 5-1 non-coding RNA RNA, transfer Approved 11p15.4 11p15.4 tRNA-Leu-CAA-5-1 TRNAL36 "transfer RNA leucine 36 (anticodon CAA)|transfer RNA-Leu (CAA) 5-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-21 2019-03-28 100189370 HG983886 tRNA-Leu-CAA-5-1 HGNC:34938 +HGNC:34560 TRL-CAA6-1 tRNA-Leu (anticodon CAA) 6-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Leu-CAA-6-1 TRNAL3 "transfer RNA leucine 3 (anticodon CAA)|transfer RNA-Leu (CAA) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189003 HG983887 tRNA-Leu-CAA-6-1 HGNC:34560 +HGNC:35074 TRL-CAA7-1 tRNA-Leu (CAA) 7-1 non-coding RNA RNA, transfer Approved 10p11.21 10p11.21 tRNA-Leu-CAA-7-1 TRNAL44P "transfer RNA leucine 44 (anticodon CAA) pseudogene|transfer RNA-Leu (CAA) 7-1" 2008-08-29 2014-06-19 2018-11-21 2018-11-21 100189499 HG983888 NG_052602 tRNA-Leu-CAA-7-1 HGNC:35074 +HGNC:34962 TRL-CAG1-1 tRNA-Leu (anticodon CAG) 1-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Leu-CAG-1-1 TRNAL38 "transfer RNA leucine 38 (anticodon CAG)|transfer RNA-Leu (CAG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189394 HG983889 tRNA-Leu-CAG-1-1 HGNC:34962 +HGNC:34568 TRL-CAG1-2 tRNA-Leu (anticodon CAG) 1-2 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Leu-CAG-1-2 TRNAL5 "transfer RNA leucine 5 (anticodon CAG)|transfer RNA-Leu (CAG) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189009 HG983890 tRNA-Leu-CAG-1-2 HGNC:34568 +HGNC:34883 TRL-CAG1-3 tRNA-Leu (anticodon CAG) 1-3 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Leu-CAG-1-3 TRNAL30 "transfer RNA leucine 30 (anticodon CAG)|transfer RNA-Leu (CAG) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189316 HG983891 tRNA-Leu-CAG-1-3 HGNC:34883 +HGNC:34932 TRL-CAG1-4 tRNA-Leu (anticodon CAG) 1-4 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Leu-CAG-1-4 TRNAL35 "transfer RNA leucine 35 (anticodon CAG)|transfer RNA-Leu (CAG) 1-4" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189364 HG983892 tRNA-Leu-CAG-1-4 HGNC:34932 +HGNC:34701 TRL-CAG1-5 tRNA-Leu (anticodon CAG) 1-5 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Leu-CAG-1-5 TRNAL14 "transfer RNA leucine 14 (anticodon CAG)|transfer RNA-Leu (CAG) 1-5" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189139 HG983893 tRNA-Leu-CAG-1-5 HGNC:34701 +HGNC:34577 TRL-CAG1-6 tRNA-Leu (anticodon CAG) 1-6 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Leu-CAG-1-6 TRNAL6 "transfer RNA leucine 6 (anticodon CAG)|transfer RNA-Leu (CAG) 1-6" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189018 HG983894 tRNA-Leu-CAG-1-6 HGNC:34577 +HGNC:34854 TRL-CAG1-7 tRNA-Leu (anticodon CAG) 1-7 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Leu-CAG-1-7 TRNAL26 "transfer RNA leucine 26 (anticodon CAG)|transfer RNA-Leu (CAG) 1-7" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189288 HG983895 tRNA-Leu-CAG-1-7 HGNC:34854 +HGNC:34692 TRL-CAG2-1 tRNA-Leu (anticodon CAG) 2-1 non-coding RNA RNA, transfer Approved 16q13-21 16q13-21 tRNA-Leu-CAG-2-1 TRNAL13 "transfer RNA leucine 13 (anticodon CAG)|transfer RNA-Leu (CAG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189130 HG983896 tRNA-Leu-CAG-2-1 HGNC:34692 +HGNC:34649 TRL-CAG2-2 tRNA-Leu (anticodon CAG) 2-2 non-coding RNA RNA, transfer Approved 16q21 16q21 tRNA-Leu-CAG-2-2 TRNAL11 "transfer RNA leucine 11 (anticodon CAG)|transfer RNA-Leu (CAG) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189089 HG983897 tRNA-Leu-CAG-2-2 HGNC:34649 +HGNC:34767 TRL-CAG3-1 tRNA-Leu (CAG) 3-1 non-coding RNA RNA, transfer Approved 5q33.3 05q33.3 tRNA-Leu-CAG-3-1 TRNAL21 "transfer RNA leucine 21 (anticodon CAG)|transfer RNA-Leu (CAG) 3-1" 2008-08-29 2014-06-19 2018-11-21 2018-11-21 100189204 HG983898 tRNA-Leu-CAG-3-1 +HGNC:34880 TRL-TAA1-1 tRNA-Leu (anticodon TAA) 1-1 non-coding RNA RNA, transfer Approved 6q24.2 06q24.2 tRNA-Leu-TAA-1-1 TRNAL29 "transfer RNA leucine 29 (anticodon UAA)|transfer RNA-Leu (TAA) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189313 HG983899 tRNA-Leu-TAA-1-1 HGNC:34880 +HGNC:34726 TRL-TAA2-1 tRNA-Leu (anticodon TAA) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Leu-TAA-2-1 TRNAL16 "transfer RNA leucine 16 (anticodon UAA)|transfer RNA-Leu (TAA) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189164 HG983900 tRNA-Leu-TAA-2-1 HGNC:34726 +HGNC:34803 TRL-TAA3-1 tRNA-Leu (anticodon TAA) 3-1 non-coding RNA RNA, transfer Approved 11q12.1 11q12.1 tRNA-Leu-TAA-3-1 TRNAL23 "transfer RNA leucine 23 (anticodon UAA)|transfer RNA-Leu (TAA) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189240 HG983901 tRNA-Leu-TAA-3-1 HGNC:34803 +HGNC:34626 TRL-TAA4-1 tRNA-Leu (anticodon TAA) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Leu-TAA-4-1 TRNAL10 "transfer RNA leucine 10 (anticodon UAA)|transfer RNA-Leu (TAA) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189067 HG983902 tRNA-Leu-TAA-4-1 HGNC:34626 +HGNC:34737 TRL-TAA5-1 tRNA-Leu (anticodon TAA) 5-1 pseudogene pseudogene Approved 6q13 06q13 tRNA-Leu-TAA-5-1 TRNAL18 "transfer RNA leucine 18 (anticodon UAA)|transfer RNA-Leu (TAA) 5-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189175 HG983903 tRNA-Leu-TAA-5-1 +HGNC:12316 TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Leu-TAG-1-1 "TRL2|TRNAL2" "tRNA leucine 2|tRNA leucine 2 (anticodon UAG)|transfer RNA leucine 2 (anticodon UAG)|transfer RNA-Leu (TAG) 1-1" Cytoplasmic transfer RNAs 842 1989-06-30 2014-06-19 2019-04-04 2019-04-04 7208 HG983904 3637777 189920 tRNA-Leu-TAG-1-1 HGNC:12316 +HGNC:34713 TRL-TAG2-1 tRNA-Leu (anticodon TAG) 2-1 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Leu-TAG-2-1 TRNAL15 "transfer RNA leucine 15 (anticodon UAG)|transfer RNA-Leu (TAG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189151 HG983905 tRNA-Leu-TAG-2-1 HGNC:34713 +HGNC:34591 TRL-TAG3-1 tRNA-Leu (anticodon TAG) 3-1 non-coding RNA RNA, transfer Approved 16p12.2 16p12.2 tRNA-Leu-TAG-3-1 TRNAL7 "transfer RNA leucine 7 (anticodon UAG)|transfer RNA-Leu (TAG) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189032 HG983906 tRNA-Leu-TAG-3-1 HGNC:34591 +HGNC:35011 TRL-TAG4-1 tRNA-Leu (anticodon TAG) 4-1 pseudogene pseudogene Approved 14q11.2 14q11.2 tRNA-Leu-TAG-4-1 TRNAL40P "transfer RNA leucine 40 (anticodon UAG) pseudogene|transfer RNA-Leu (TAG) 4-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189441 HG983907 NG_008497 tRNA-Leu-TAG-4-1 HGNC:35011 +HGNC:34764 TRM-CAT1-1 tRNA-Met (anticodon CAT) 1-1 non-coding RNA RNA, transfer Approved 8q24.13 08q24.13 tRNA-Met-CAT-1-1 TRNAM11 "transfer RNA methionine 11 (anticodon CAU)|transfer RNA-Met (CAT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189201 HG983950 tRNA-Met-CAT-1-1 HGNC:34764 +HGNC:34697 TRM-CAT2-1 tRNA-Met (anticodon CAT) 2-1 non-coding RNA RNA, transfer Approved 16q22.2 16q22.2 tRNA-Met-CAT-2-1 TRNAM9 "transfer RNA methionine 9 (anticodon CAU)|transfer RNA-Met (CAT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189135 HG983951 tRNA-Met-CAT-2-1 HGNC:34697 +HGNC:34779 TRM-CAT3-1 tRNA-Met (anticodon CAT) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Met-CAT-3-1 TRNAM12 "transfer RNA methionine 12 (anticodon CAU)|transfer RNA-Met (CAT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189216 HG983952 tRNA-Met-CAT-3-1 HGNC:34779 +HGNC:34673 TRM-CAT3-2 tRNA-Met (anticodon CAT) 3-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Met-CAT-3-2 TRNAM8 "transfer RNA methionine 8 (anticodon CAU)|transfer RNA-Met (CAT) 3-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189111 HG983953 tRNA-Met-CAT-3-2 HGNC:34673 +HGNC:34661 TRM-CAT4-1 tRNA-Met (anticodon CAT) 4-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Met-CAT-4-1 TRNAM7 "transfer RNA methionine 7 (anticodon CAU)|transfer RNA-Met (CAT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2020-02-13 100189391 HG983954 tRNA-Met-CAT-4-1 +HGNC:34922 TRM-CAT4-2 tRNA-Met (anticodon CAT) 4-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Met-CAT-4-2 TRNAM19 "transfer RNA methionine 19 (anticodon CAU)|transfer RNA-Met (CAT) 4-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189354 HG983955 tRNA-Met-CAT-4-2 HGNC:34922 +HGNC:34959 TRM-CAT4-3 tRNA-Met (anticodon CAT) 4-3 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Met-CAT-4-3 TRNAM20 "transfer RNA methionine 20 (anticodon CAU)|transfer RNA-Met (CAT) 4-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2020-02-13 107986682 HG983956 tRNA-Met-CAT-4-3 HGNC:34959 +HGNC:34869 TRM-CAT5-1 tRNA-Met (anticodon CAT) 5-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Met-CAT-5-1 TRNAM16 "transfer RNA methionine 16 (anticodon CAU)|transfer RNA-Met (CAT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189303 HG983957 tRNA-Met-CAT-5-1 HGNC:34869 +HGNC:54713 TRM-CAT5-2 tRNA-Met (anticodon CAT) 5-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Met-CAT-5-2 Cytoplasmic transfer RNAs 842 2019-12-06 2020-02-13 107986680 +HGNC:34789 TRM-CAT6-1 tRNA-Met (anticodon CAT) 6-1 non-coding RNA RNA, transfer Approved 16q24.2 16q24.2 tRNA-Met-CAT-6-1 TRNAM13 "transfer RNA methionine 13 (anticodon CAU)|transfer RNA-Met (CAT) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189226 HG983958 tRNA-Met-CAT-6-1 HGNC:34789 +HGNC:34645 TRM-CAT7-1 tRNA-Met (anticodon CAT) 7-1 non-coding RNA RNA, transfer Approved 6p11.2 06p11.2 tRNA-Met-CAT-7-1 TRNAM5 "transfer RNA methionine 5 (anticodon CAU)|transfer RNA-Met (CAT) 7-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-04 2019-04-04 100189085 HG983959 tRNA-Met-CAT-7-1 HGNC:34645 +HGNC:30967 TRMO tRNA methyltransferase O protein-coding gene gene with protein product Approved 9q22.33 09q22.33 HSPC219 C9orf156 chromosome 9 open reading frame 156 Methyltransferase families 1398 2004-05-17 2015-10-16 2015-10-16 2016-10-05 51531 ENSG00000136932 OTTHUMG00000021007 AK023069 NM_016481 "CCDS6730|CCDS83387" Q9BU70 25063302 MGI:1922003 RGD:1305420 HGNC:30967 "ENST00000375119.8|NM_016481.5" +HGNC:25980 TRMT1 tRNA methyltransferase 1 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "FLJ20244|TRM1" tRNA methyltransferase 1 homolog (S. cerevisiae) 7BS DNA/RNA methyltransferases 2059 2005-08-11 2015-09-25 2016-10-05 55621 ENSG00000104907 OTTHUMG00000180730 uc060ugy.1 AF196479 NM_017722 "CCDS12293|CCDS45997" Q9NXH9 10982862 MGI:1289155 RGD:1305992 611669 2.1.1.216 HGNC:25980 "ENST00000357720.9|NM_001136035.4" HGNC:25980 +HGNC:16782 TRMT1L tRNA methyltransferase 1 like protein-coding gene gene with protein product Approved 1q25.3 01q25.3 TRM1-like C1orf25 "chromosome 1 open reading frame 25|TRM1 tRNA methyltransferase 1-like|tRNA methyltransferase 1 homolog (S. cerevisiae)-like|tRNA methyltransferase 1-like" 7BS DNA/RNA methyltransferases 2059 2001-10-05 2011-01-24 2015-11-11 2016-10-05 81627 ENSG00000121486 OTTHUMG00000035389 uc001grf.5 AF288399 NM_030934 CCDS1366 Q7Z2T5 "11318611|17198746" MGI:1916185 RGD:1307890 611673 HGNC:16782 "ENST00000367506.10|NM_030934.5" +HGNC:55145 TRMT1P1 TRMT1 pseudogene 1 pseudogene pseudogene Approved Xq27.3 Xq27.3 2020-07-15 2020-07-15 347422 ENSG00000231093 NG_022710 +HGNC:24974 TRMT2A tRNA methyltransferase 2 homolog A protein-coding gene gene with protein product Approved 22q11.21 22q11.21 HTF9C HpaII tiny fragments locus 9C tRNA methyltransferase 2 homolog A (S. cerevisiae) "MicroRNA protein coding host genes|7BS DNA/RNA methyltransferases" "1691|2059" 2008-09-17 2015-09-25 2020-07-17 27037 ENSG00000099899 OTTHUMG00000150454 uc002zrk.3 BC017184 NM_022727 "CCDS82693|CCDS58793|CCDS13774" Q8IZ69 "9417108|18075473|30502085" MGI:96270 RGD:1310418 611151 HGNC:24974 "ENST00000252136.12|NM_022727.6" +HGNC:25748 TRMT2B tRNA methyltransferase 2 homolog B protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 FLJ12687 CXorf34 "chromosome X open reading frame 34|tRNA methyltransferase 2 homolog B (S. cerevisiae)" 7BS DNA/RNA methyltransferases 2059 2004-08-16 2008-09-17 2015-09-25 2020-04-02 79979 ENSG00000188917 OTTHUMG00000022017 uc004egq.4 BC020116 NM_024917 "CCDS14477|CCDS55464" Q96GJ1 14702039 MGI:2442530 RGD:1565132 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TRMT2B HGNC:25748 "ENST00000372936.4|NM_024917.6" +HGNC:41116 TRMT2B-AS1 TRMT2B antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq22.1 Xq22.1 TRMT2B antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 106481789 ENSG00000225839 OTTHUMG00000022015 uc065age.1 TRMT2B-AS1 +HGNC:23141 TRMT5 tRNA methyltransferase 5 protein-coding gene gene with protein product Approved 14q23.1 14q23.1 TRM5 tRNA (guanine(37)-N1)-methyltransferase KIAA1393 "KIAA1393|tRNA methyltransferase 5 homolog (S. cerevisiae)" 7BS DNA/RNA methyltransferases 2059 2003-11-20 2005-08-11 2013-06-05 2019-08-20 57570 ENSG00000126814 OTTHUMG00000171294 uc001xff.5 AB037814 NM_020810 CCDS32092 Q32P41 15248782 MGI:1923607 RGD:1306567 611023 2.1.1.228 HGNC:23141 "ENST00000261249.7|NM_020810.3" HGNC:23141 +HGNC:20900 TRMT6 tRNA methyltransferase 6 non-catalytic subunit protein-coding gene gene with protein product Approved 20p12.3 20p12.3 "GCD10|MGC5029|Gcd10p|CGI-09" "tRNA methyltransferase 6 homolog (S. cerevisiae)|tRNA methyltransferase 6" 2007-07-31 2021-05-13 2021-05-13 51605 ENSG00000089195 OTTHUMG00000031816 uc002wmh.3 AK000613 NM_001281467 "CCDS13093|CCDS63225" Q9UJA5 16043508 MGI:1914176 RGD:1308877 HGNC:20900 "ENST00000203001.7|NM_015939.5" +HGNC:26725 TRMT9B tRNA methyltransferase 9B (putative) protein-coding gene gene with protein product Approved 8p22 08p22 "FLJ36980|TRM9L|hTRM9L" "C8orf79|KIAA1456" "chromosome 8 open reading frame 79|KIAA1456" 7BS DNA/RNA methyltransferases 2059 2006-02-14 2017-12-15 2017-12-15 2017-12-15 57604 ENSG00000250305 OTTHUMG00000165477 uc010lsq.4 BC035082 NM_001099677 CCDS47808 Q9P272 23381944 MGI:2442328 RGD:1304810 615666 HGNC:26725 "ENST00000524591.7|NM_020844.3" +HGNC:28403 TRMT10A tRNA methyltransferase 10A protein-coding gene gene with protein product Approved 4q23 04q23 "MGC27034|TRM10" RG9MTD2 "RNA (guanine-9-) methyltransferase domain containing 2|tRNA methyltransferase 10 homolog A (S. cerevisiae)" SPOUT methyltransferase domain containing 1294 2004-03-04 2012-06-28 2015-09-25 2020-07-17 93587 ENSG00000145331 OTTHUMG00000131025 uc003hva.5 BC028373 NM_152292 CCDS3650 Q8TBZ6 "24204302|23042678|32392304" MGI:1920421 RGD:1594565 616013 394606 HGNC:28403 "ENST00000394876.7|NM_001134665.3" HGNC:28403 +HGNC:26454 TRMT10B tRNA methyltransferase 10B protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "FLJ31455|bA3J10.9" RG9MTD3 "RNA (guanine-9-) methyltransferase domain containing 3|tRNA methyltransferase 10 homolog B (S. cerevisiae)" SPOUT methyltransferase domain containing 1294 2004-03-04 2012-06-28 2015-09-25 2020-07-17 158234 ENSG00000165275 OTTHUMG00000019933 uc004aai.5 BC057774 NM_144964 "CCDS69601|CCDS69598|CCDS69600|CCDS43804" Q6PF06 "14702039|23042678|32392304" MGI:1917184 RGD:1310735 HGNC:26454 "ENST00000297994.4|NM_144964.4" +HGNC:52409 TRMT10BP1 tRNA methyltransferase 10B pseudogene 1 pseudogene pseudogene Approved 8q23.1 08q23.1 2016-11-01 2020-01-22 ENSG00000253580 OTTHUMG00000164882 PGOHUM00000303657 +HGNC:26022 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "FLJ20432|MRPP1" mitochondrial RNase P subunit 1 RG9MTD1 "RNA (guanine-9-) methyltransferase domain containing 1|tRNA methyltransferase 10 homolog C (S. cerevisiae)" "SPOUT methyltransferase domain containing|Mitochondrial RNase P complex" "1294|1534" 2004-03-04 2012-06-28 2015-09-25 2015-09-25 54931 ENSG00000174173 OTTHUMG00000159114 uc003duz.5 AK000439 NM_017819 CCDS43122 Q7L0Y3 18984158 MGI:1196261 RGD:1306333 615423 HGNC:26022 "ENST00000309922.7|NM_017819.4" HGNC:26022 +HGNC:21080 TRMT11 tRNA methyltransferase 11 homolog protein-coding gene gene with protein product Approved 6q22.32 06q22.32 "MDS024|dJ187J11.2|TRM11|TRMT11-1" C6orf75 "chromosome 6 open reading frame 75|tRNA methyltransferase 11 homolog (S. cerevisiae)" 7BS DNA/RNA methyltransferases 2059 2003-11-26 2006-11-28 2015-10-02 2016-10-05 60487 ENSG00000066651 OTTHUMG00000015515 uc003qam.4 AF182423 NM_021820 CCDS35496 Q7Z4G4 MGI:1920931 RGD:727798 HGNC:21080 "ENST00000334379.11|NM_001031712.3" +HGNC:26091 TRMT12 tRNA methyltransferase 12 homolog protein-coding gene gene with protein product Approved 8q24.13 08q24.13 "FLJ20772|Trm12|TYW2" tRNA-yW synthesizing protein 2 "tRNA methyltranferase 12 homolog (S. cerevisiae)|tRNA methyltransferase 12 homolog (S. cerevisiae)" Seven-beta-strand methyltransferase motif containing 1400 2005-09-08 2016-05-04 2020-07-30 55039 ENSG00000183665 OTTHUMG00000165022 uc003yra.5 AF313041 NM_017956 CCDS6349 Q53H54 "16005430|17150819|22761755" MGI:1915510 RGD:1307127 611244 2.5.1.114 HGNC:26091 "ENST00000328599.4|NM_017956.4" +HGNC:25502 TRMT13 tRNA methyltransferase 13 homolog protein-coding gene gene with protein product Approved 1p21.2 01p21.2 "FLJ10287|FLJ11219" CCDC76 "coiled-coil domain containing 76|tRNA methyltransferase 13 homolog (S. cerevisiae)" 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2006-02-15 2012-06-07 2016-03-31 2016-03-31 54482 ENSG00000122435 OTTHUMG00000010841 uc001dsv.4 BC075811 NM_019083 CCDS765 Q9NUP7 11799066 MGI:1925219 RGD:1565211 HGNC:25502 "ENST00000370141.8|NM_019083.3" +HGNC:26653 TRMT44 tRNA methyltransferase 44 homolog protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "FLJ35725|TRM44" "C4orf23|METTL19" "chromosome 4 open reading frame 23|methyltransferase like 19|tRNA methyltransferase 44 homolog (S. cerevisiae)" 7BS 2'O-ribose DNA/RNA methyltransferases 2062 2006-05-22 2012-06-12 2017-08-07 2021-09-10 152992 ENSG00000155275 OTTHUMG00000160935 uc003glg.3 AK093044 NM_152544 CCDS3402 Q8IYL2 21658913 MGI:1926140 RGD:1308380 614309 HGNC:26653 "ENST00000389737.5|NM_152544.3" +HGNC:23790 TRMT61A tRNA methyltransferase 61A protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "FLJ40452|GCD14|Gcd14p|hTRM61" C14orf172 "chromosome 14 open reading frame 172|tRNA methyltransferase 61 homolog A (S. cerevisiae)" 7BS DNA/RNA methyltransferases 2059 2004-06-11 2009-01-09 2014-11-17 2019-08-20 115708 ENSG00000166166 OTTHUMG00000171762 uc001yng.4 AK097771 NM_152307 CCDS41994 Q96FX7 16043508 MGI:2443487 RGD:1359191 HGNC:23790 "ENST00000389749.9|NM_152307.3" +HGNC:56082 TRMT61A-DT TRMT61A divergent transcript non-coding RNA RNA, long non-coding Approved 14q32.33 14q32.33 Divergent transcripts 1990 2021-12-20 2021-12-20 123706535 ENSG00000260285 +HGNC:26070 TRMT61B tRNA methyltransferase 61B protein-coding gene gene with protein product Approved 2p23.2 02p23.2 FLJ20628 tRNA methyltransferase 61 homolog B (S. cerevisiae) 7BS DNA/RNA methyltransferases 2059 2009-01-09 2014-11-17 2014-11-19 55006 ENSG00000171103 OTTHUMG00000128433 uc002rmm.5 BC010365 NM_017910 CCDS1768 Q9BVS5 "11230166|23097428" 619404 HGNC:26070 "ENST00000306108.10|NM_017910.4" +HGNC:26940 TRMT112 tRNA methyltransferase activator subunit 11-2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "HSPC152|HSPC170|TRM112|TRMT11-2|hTrm112" "tRNA methyltransferase 11-2 homolog (S. cerevisiae)|tRNA methyltransferase subunit 11-2" 2009-06-15 2021-04-22 2021-04-22 51504 ENSG00000173113 OTTHUMG00000167848 uc001nzt.5 AF110774 NM_016404 "CCDS66113|CCDS73312|CCDS8068" Q9UI30 "11042152|25851604" MGI:1914924 RGD:1309710 618630 HGNC:26940 "ENST00000544844.6|NM_016404.3" +HGNC:44020 TRMT112P1 tRNA methyltransferase subunit 11-2 pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 1 2012-05-28 2017-05-26 2017-05-26 100288861 ENSG00000250272 OTTHUMG00000161139 NG_027524 PGOHUM00000246044 HGNC:44020 +HGNC:44021 TRMT112P2 tRNA methyltransferase subunit 11-2 pseudogene 2 pseudogene pseudogene Approved 5q14.1 05q14.1 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 2 2012-05-28 2017-05-26 2017-05-26 106479033 ENSG00000249778 OTTHUMG00000162546 NG_047084 PGOHUM00000235289 HGNC:44021 +HGNC:44022 TRMT112P3 tRNA methyltransferase subunit 11-2 pseudogene 3 pseudogene pseudogene Approved 17q23.2 17q23.2 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 3 2012-05-28 2017-05-26 2017-05-26 729667 ENSG00000265262 OTTHUMG00000179101 NG_027522 PGOHUM00000237139 HGNC:44022 +HGNC:44023 TRMT112P4 tRNA methyltransferase subunit 11-2 pseudogene 4 pseudogene pseudogene Approved 9q31.1 09q31.1 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 4 2012-05-28 2017-05-26 2017-05-26 100288173 ENSG00000236763 OTTHUMG00000020375 NG_027523 PGOHUM00000236287 HGNC:44023 +HGNC:44024 TRMT112P5 tRNA methyltransferase subunit 11-2 pseudogene 5 pseudogene pseudogene Approved 3q23 03q23 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 5 2012-05-28 2017-05-26 2017-05-26 106480784 ENSG00000250161 OTTHUMG00000159950 NG_044040 PGOHUM00000299198 HGNC:44024 +HGNC:44025 TRMT112P6 tRNA methyltransferase subunit 11-2 pseudogene 6 pseudogene pseudogene Approved 2p23.3 02p23.3 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 6 2012-05-28 2017-05-26 2017-05-26 391358 ENSG00000268412 OTTHUMG00000187085 NG_027521 HGNC:44025 +HGNC:44026 TRMT112P7 tRNA methyltransferase subunit 11-2 pseudogene 7 pseudogene pseudogene Approved 8q11.23 08q11.23 tRNA methyltransferase 11-2 homolog (S. cerevisiae) pseudogene 7 2012-05-28 2017-05-26 2017-05-26 100287567 ENSG00000270275 OTTHUMG00000184845 NG_027525 PGOHUM00000249345 HGNC:44026 +HGNC:25481 TRMU tRNA mitochondrial 2-thiouridylase protein-coding gene gene with protein product Approved 22q13.31 22q13.31 "FLJ10140|MTO2|MTU1" mitochondrial tRNA-specific 2-thiouridylase 1 TRMT "tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase|tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase" 2004-03-08 2005-08-11 2020-07-23 2020-07-23 55687 ENSG00000100416 OTTHUMG00000150424 uc003bhp.4 AY062123 NM_018006 "CCDS14075|CCDS63510" O75648 "14746906|15509579" MGI:1919276 RGD:1311229 610230 120293 2.8.1.14 HGNC:25481 "ENST00000645190.1|NM_018006.5" HGNC:25481 +HGNC:34887 TRN-ATT1-1 tRNA-Asn (ATT) 1-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-ATT-1-1 TRNAN26 "transfer RNA asparagine 26 (anticodon AUU)|transfer RNA-Asn (ATT) 1-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-21 2018-11-21 100189320 HG983627 tRNA-Asn-ATT-1-1 +HGNC:50812 TRN-ATT1-2 tRNA-Asn (ATT) 1-2 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-ATT-1-2 transfer RNA-Asn (ATT) 1-2 Low confidence cytoplasmic transfer RNAs 1877 2014-07-07 2018-11-21 2018-11-21 103581030 HG983628 tRNA-Asn-ATT-1-2 +HGNC:34688 TRN-GTT1-1 tRNA-Asn (anticodon GTT) 1-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asn-GTT-1-1 TRNAN14 "transfer RNA asparagine 14 (anticodon GUU)|transfer RNA-Asn (GTT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189126 HG983629 tRNA-Asn-GTT-1-1 HGNC:34688 +HGNC:12324 TRN-GTT2-1 tRNA-Asn (anticodon GTT) 2-1 non-coding RNA RNA, transfer Approved 1p36.1 01p36.1 tRNA-Asn-GTT-2-1 "RNN|TRN|TRN1|TRNAN1" "tRNA asparagine|tRNA asparagine 1 (anticodon GUU)|transfer RNA asparagine 1 (anticodon GUU)|transfer RNA-Asn (GTT) 2-1" Cytoplasmic transfer RNAs 842 1989-06-30 2014-06-19 2019-04-05 2020-02-13 100189005 HG983630 tRNA-Asn-GTT-2-1 HGNC:12324 +HGNC:34971 TRN-GTT2-2 tRNA-Asn (anticodon GTT) 2-2 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asn-GTT-2-2 TRNAN32 "transfer RNA asparagine 32 (anticodon GUU)|transfer RNA-Asn (GTT) 2-2|tRNA-Asn (GTT) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189402 HG983631 tRNA-Asn-GTT-2-2 HGNC:34971 +HGNC:34643 TRN-GTT2-3 tRNA-Asn (anticodon GTT) 2-3 non-coding RNA RNA, transfer Approved 10p12.31 10p12.31 tRNA-Asn-GTT-2-3 TRNAN11 "transfer RNA asparagine 11 (anticodon GUU)|transfer RNA-Asn (GTT) 2-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189083 HG983632 tRNA-Asn-GTT-2-3 HGNC:34643 +HGNC:34595 TRN-GTT2-4 tRNA-Asn (anticodon GTT) 2-4 non-coding RNA RNA, transfer Approved 13q12.3 13q12.3 tRNA-Asn-GTT-2-4 TRNAN7 "transfer RNA asparagine 7 (anticodon GUU)|transfer RNA-Asn (GTT) 2-4" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189036 HG983633 tRNA-Asn-GTT-2-4 HGNC:34595 +HGNC:34738 TRN-GTT2-5 tRNA-Asn (anticodon GTT) 2-5 non-coding RNA RNA, transfer Approved 17q12 17q12 tRNA-Asn-GTT-2-5 TRNAN17 "transfer RNA asparagine 17 (anticodon GUU)|transfer RNA-Asn (GTT) 2-5" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189176 HG983634 tRNA-Asn-GTT-2-5 HGNC:34738 +HGNC:34758 TRN-GTT2-6 tRNA-Asn (anticodon GTT) 2-6 non-coding RNA RNA, transfer Approved 19p13.3 19p13.3 tRNA-Asn-GTT-2-6 TRNAN20 "transfer RNA asparagine 20 (anticodon GUU)|transfer RNA-Asn (GTT) 2-6" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189195 HG983635 tRNA-Asn-GTT-2-6 HGNC:34758 +HGNC:54714 TRN-GTT2-7 tRNA-Asn (anticodon GTT) 2-7 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-2-7 Cytoplasmic transfer RNAs 842 2019-12-06 2020-02-13 7214 189880 +HGNC:54715 TRN-GTT2-8 tRNA-Asn (anticodon GTT) 2-8 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-2-8 Cytoplasmic transfer RNAs 842 2019-12-06 2020-02-13 100189127 +HGNC:34890 TRN-GTT3-1 tRNA-Asn (anticodon GTT) 3-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-3-1 TRNAN27 "transfer RNA asparagine 27 (anticodon GUU)|transfer RNA-Asn (GTT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189323 HG983636 tRNA-Asn-GTT-3-1 HGNC:34890 +HGNC:34689 TRN-GTT3-2 tRNA-Asn (GTT) 3-2 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-3-2 TRNAN15 "transfer RNA asparagine 15 (anticodon GUU)|transfer RNA-Asn (GTT) 3-2" 2008-08-29 2014-06-19 2018-11-21 2020-02-13 116652394 HG983637 tRNA-Asn-GTT-3-2 HGNC:34689 +HGNC:33197 TRN-GTT4-1 tRNA-Asn (anticodon GTT) 4-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Asn-GTT-4-1 "TRN2|TRNAN2" "transfer RNA asparagine 2 (anticodon GUU)|transfer RNA-Asn (GTT) 4-1" Cytoplasmic transfer RNAs 842 2007-01-11 2014-06-19 2019-04-05 2019-04-05 791226 HG983638 6234206 tRNA-Asn-GTT-4-1 HGNC:33197 +HGNC:38582 TRN-GTT5-1 tRNA-Asn (anticodon GTT) 5-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Asn-GTT-5-1 TRNAN37 "transfer RNA asparagine 37 (anticodon GUU)|transfer RNA-Asn (GTT) 5-1" Cytoplasmic transfer RNAs 842 2010-06-23 2014-06-19 2019-04-05 2020-02-13 107985757 HG983639 tRNA-Asn-GTT-5-1 +HGNC:33198 TRN-GTT6-1 tRNA-Asn (anticodon GTT) 6-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-6-1 "TRN3|TRNAN3" "transfer RNA asparagine 3 (anticodon GUU)|transfer RNA-Asn (GTT) 6-1" Cytoplasmic transfer RNAs 842 2007-01-11 2014-06-19 2019-04-05 2019-04-05 791227 HG983640 6234206 tRNA-Asn-GTT-6-1 HGNC:33198 +HGNC:34562 TRN-GTT7-1 tRNA-Asn (anticodon GTT) 7-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-7-1 TRNAN5 "transfer RNA asparagine 5 (anticodon GUU)|transfer RNA-Asn (GTT) 7-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2020-02-13 107985762 HG983641 tRNA-Asn-GTT-7-1 HGNC:34562 +HGNC:34618 TRN-GTT8-1 tRNA-Asn (anticodon GTT) 8-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-8-1 TRNAN8 "transfer RNA asparagine 8 (anticodon GUU)|transfer RNA-Asn (GTT) 8-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189059 HG983642 tRNA-Asn-GTT-8-1 HGNC:34618 +HGNC:34870 TRN-GTT9-1 tRNA-Asn (anticodon GTT) 9-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-9-1 TRNAN25 "transfer RNA asparagine 25 (anticodon GUU)|transfer RNA-Asn (GTT) 9-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2020-02-13 107985751 HG983643 tRNA-Asn-GTT-9-1 +HGNC:34756 TRN-GTT9-2 tRNA-Asn (anticodon GTT) 9-2 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-9-2 TRNAN19 "transfer RNA asparagine 19 (anticodon GUU)|transfer RNA-Asn (GTT) 9-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189193 HG983644 tRNA-Asn-GTT-9-2 HGNC:34756 +HGNC:35092 TRN-GTT10-1 tRNA-Asn (anticodon GTT) 10-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-10-1 "TRNAN35P|TRNAN35" "transfer RNA asparagine 35 (anticodon GUU) pseudogene|transfer RNA asparagine 35 (anticodon GUU)|transfer RNA-Asn (GTT) 10-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2020-02-13 107985754 HG983645 NG_008575 tRNA-Asn-GTT-10-1 +HGNC:34669 TRN-GTT11-1 tRNA-Asn (anticodon GTT) 11-1 non-coding RNA RNA, transfer Approved 1p11.2 01p11.2 tRNA-Asn-GTT-11-1 TRNAN13 "transfer RNA asparagine 13 (anticodon GUU)|transfer RNA-Asn (GTT) 11-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2020-02-13 107985763 HG983646 tRNA-Asn-GTT-11-1 +HGNC:34820 TRN-GTT11-2 tRNA-Asn (anticodon GTT) 11-2 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-11-2 TRNAN22 "transfer RNA asparagine 22 (anticodon GUU)|transfer RNA-Asn (GTT) 11-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189257 HG983647 tRNA-Asn-GTT-11-2 HGNC:34820 +HGNC:34924 TRN-GTT12-1 tRNA-Asn (anticodon GTT) 12-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-12-1 TRNAN29 "transfer RNA asparagine 29 (anticodon GUU)|transfer RNA-Asn (GTT) 12-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189356 HG983648 tRNA-Asn-GTT-12-1 HGNC:34924 +HGNC:34746 TRN-GTT13-1 tRNA-Asn (GTT) 13-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Asn-GTT-13-1 TRNAN18 "transfer RNA asparagine 18 (anticodon GUU)|transfer RNA-Asn (GTT) 13-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2018-11-21 2018-11-21 100189183 HG983649 tRNA-Asn-GTT-13-1 HGNC:34746 +HGNC:34553 TRN-GTT14-1 tRNA-Asn (GTT) 14-1 non-coding RNA RNA, transfer Approved 1 01 tRNA-Asn-GTT-14-1 TRNAN4 "transfer RNA asparagine 4 (anticodon GUU)|transfer RNA-Asn (GTT) 14-1" 2008-08-29 2014-06-19 2018-11-21 2018-11-21 100188996 HG983650 tRNA-Asn-GTT-14-1 +HGNC:34796 TRN-GTT15-1 tRNA-Asn (GTT) 15-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-15-1 TRNAN21 "transfer RNA asparagine 21 (anticodon GUU)|transfer RNA-Asn (GTT) 15-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189233 HG983651 tRNA-Asn-GTT-15-1 +HGNC:54203 TRN-GTT15-2 tRNA-Asn (GTT) 15-2 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-15-2 Low confidence cytoplasmic transfer RNAs 1877 2019-03-28 2019-03-28 +HGNC:34628 TRN-GTT16-1 tRNA-Asn (GTT) 16-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-16-1 TRNAN9 "transfer RNA asparagine 9 (anticodon GUU)|transfer RNA-Asn (GTT) 16-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189069 HG983652 tRNA-Asn-GTT-16-1 +HGNC:34834 TRN-GTT16-2 tRNA-Asn (GTT) 16-2 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-16-2 TRNAN24 "transfer RNA asparagine 24 (anticodon GUU)|transfer RNA-Asn (GTT) 16-2" 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189271 HG983653 tRNA-Asn-GTT-16-2 +HGNC:34639 TRN-GTT16-3 tRNA-Asn (GTT) 16-3 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-16-3 TRNAN10 "transfer RNA asparagine 10 (anticodon GUU)|transfer RNA-Asn (GTT) 16-3" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189079 HG983654 tRNA-Asn-GTT-16-3 +HGNC:34727 TRN-GTT16-4 tRNA-Asn (GTT) 16-4 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-16-4 TRNAN16 "transfer RNA asparagine 16 (anticodon GUU)|transfer RNA-Asn (GTT) 16-4" 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189165 HG983655 tRNA-Asn-GTT-16-4 +HGNC:34906 TRN-GTT16-5 tRNA-Asn (anticodon GTT) 16-5 pseudogene pseudogene Approved 1q21.1 01q21.1 tRNA-Asn-GTT-16-5 TRNAN28 "transfer RNA asparagine 28 (anticodon GUU)|transfer RNA-Asn (GTT) 16-5" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189338 HG983656 tRNA-Asn-GTT-16-5 +HGNC:34657 TRN-GTT17-1 tRNA-Asn (GTT) 17-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Asn-GTT-17-1 TRNAN12 "transfer RNA asparagine 12 (anticodon GUU)|transfer RNA-Asn (GTT) 17-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189096 HG983657 tRNA-Asn-GTT-17-1 +HGNC:50799 TRN-GTT18-1 tRNA-Asn (GTT) 18-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Asn-GTT-18-1 transfer RNA-Asn (GTT) 18-1 Low confidence cytoplasmic transfer RNAs 1877 2014-06-14 2014-06-19 2019-03-28 2019-03-28 103456509 HG983658 tRNA-Asn-GTT-18-1 +HGNC:34949 TRN-GTT19-1 tRNA-Asn (GTT) 19-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-19-1 TRNAN30 "transfer RNA asparagine 30 (anticodon GUU)|transfer RNA-Asn (GTT) 19-1" 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189381 HG983659 tRNA-Asn-GTT-19-1 +HGNC:54205 TRN-GTT19-2 tRNA-Asn (GTT) 19-2 non-coding RNA RNA, transfer Approved 1p11.2 01p11.2 tRNA-Asn-GTT-19-2 Low confidence cytoplasmic transfer RNAs 1877 2019-03-28 2019-03-28 +HGNC:34829 TRN-GTT20-1 tRNA-Asn (GTT) 20-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-20-1 TRNAN23 "transfer RNA asparagine 23 (anticodon GUU)|transfer RNA-Asn (GTT) 20-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189266 HG983660 tRNA-Asn-GTT-20-1 +HGNC:38584 TRN-GTT21-1 tRNA-Asn (anticodon GTT) 21-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Asn-GTT-21-1 TRNAN38 "transfer RNA asparagine 38 (anticodon GUU)|transfer RNA-Asn (GTT) 21-1" Cytoplasmic transfer RNA pseudogenes 1681 2010-06-23 2014-06-19 2019-05-01 2019-05-01 100873961 HG983661 tRNA-Asn-GTT-21-1 +HGNC:35111 TRN-GTT22-1 tRNA-Asn (anticodon GTT) 22-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Asn-GTT-22-1 TRNAN36P "transfer RNA asparagine 36 (anticodon GUU) pseudogene|transfer RNA-Asn (GTT) 22-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189534 HG983662 NG_008592 tRNA-Asn-GTT-22-1 HGNC:35111 +HGNC:35064 TRN-GTT23-1 tRNA-Asn (anticodon GTT) 23-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Asn-GTT-23-1 TRNAN34P "transfer RNA asparagine 34 (anticodon GUU) pseudogene|transfer RNA-Asn (GTT) 23-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189490 HG983663 NG_008548 tRNA-Asn-GTT-23-1 HGNC:35064 +HGNC:54716 TRN-GTT24-1 tRNA-Asn (anticodon GTT) 24-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Asn-GTT-24-1 Cytoplasmic transfer RNAs 842 2019-12-06 2019-12-06 107985756 +HGNC:54717 TRN-GTT25-1 tRNA-Asn (anticodon GTT) 25-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Asn-GTT-25-1 Cytoplasmic transfer RNAs 842 2019-12-06 2019-12-06 107985752 +HGNC:54718 TRN-GTT26-1 tRNA-Asn (anticodon GTT) 26-1 non-coding RNA RNA, transfer Approved 1 not on reference assembly 01 not on reference assembly tRNA-Asn-GTT-26-1 Cytoplasmic transfer RNAs 842 2019-12-06 2019-12-06 107987367 +HGNC:54719 TRN-GTT27-1 tRNA-Asn (anticodon GTT) 27-1 non-coding RNA RNA, transfer Approved 1p11.2 01p11.2 tRNA-Asn-GTT-27-1 Cytoplasmic transfer RNAs 842 2019-12-06 2019-12-06 107985750 +HGNC:30813 TRNAU1AP tRNA selenocysteine 1 associated protein 1 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "SECP43|FLJ20503" TRSPAP1 tRNA selenocysteine associated protein 1 RNA binding motif containing 725 2005-11-28 2008-09-05 2008-09-05 2018-04-12 54952 ENSG00000180098 OTTHUMG00000003653 uc001bqi.4 NM_017846 CCDS324 Q9NX07 "10606267|16230358" MGI:1919037 RGD:619995 619597 HGNC:30813 "ENST00000373830.4|NM_017846.5" +HGNC:34348 TRNP1 TMF1 regulated nuclear protein 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 TRNP C1orf225 chromosome 1 open reading frame 225 2008-09-16 2009-02-19 2019-02-14 2019-02-14 388610 ENSG00000253368 OTTHUMG00000004277 uc001bnj.5 "AI366714|AL356390|BC069216|CH471059" NM_001013642 CCDS41289 Q6NT89 "23622239|16792503" MGI:1916789 RGD:1582917 616824 HGNC:34348 "ENST00000522111.3|NM_001013642.3" +HGNC:17341 TRNT1 tRNA nucleotidyl transferase 1 protein-coding gene gene with protein product Approved 3p26.2 03p26.2 "MtCCA|CGI-47|CCA1" "ATP(CTP):tRNA nucleotidyltransferase|CCA-adding enzyme" "tRNA nucleotidyl transferase, CCA-adding, 1|tRNA CCA nucleotidyl transferase 1" 2002-05-30 2016-05-16 2021-05-26 51095 ENSG00000072756 OTTHUMG00000090259 uc003bpp.5 AF151805 NM_001302946 "CCDS77691|CCDS2561" Q96Q11 "10810093|11504732" MGI:1917297 RGD:1308857 LRG_1314|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1314.xml 612907 413615 2.7.7.72 HGNC:17341 "ENST00000251607.11|NM_182916.3" HGNC:17341 +HGNC:12326 TRO trophinin protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "MAGE-D3|KIAA1114|MAGED3" "MAGE family|Small nucleolar RNA protein coding host genes" "1136|1835" 1997-10-30 2020-04-02 7216 ENSG00000067445 OTTHUMG00000021640 uc004dtq.6 U04811 NM_016157 "CCDS59527|CCDS59529|CCDS59528|CCDS43958|CCDS43959" Q12816 "9533028|11454705" MGI:1928994 RGD:6488256 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TRO 300132 HGNC:12326 "ENST00000173898.12|NM_001039705.3" +HGNC:12327 TROAP trophinin associated protein protein-coding gene gene with protein product Approved 12q13.12 12q13.12 TASTIN tastin 2000-04-13 2012-10-17 2014-11-18 10024 ENSG00000135451 OTTHUMG00000169486 uc001rtx.5 U04810 NM_005480 "CCDS61117|CCDS41779|CCDS8784" Q12815 7758945 MGI:1925983 RGD:1306870 603872 HGNC:12327 "ENST00000257909.8|NM_005480.4" +HGNC:55453 TROAP-AS1 TROAP and PRPH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q13.12 12q13.12 Antisense RNAs 1987 2021-01-20 2021-01-20 2021-01-20 101927267 ENSG00000258334 NR_120449 +HGNC:34579 TRP-AGG1-1 tRNA-Pro (anticodon AGG) 1-1 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Pro-AGG-1-1 TRNAP5 "transfer RNA proline 5 (anticodon AGG)|transfer RNA-Pro (AGG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189020 HG983977 tRNA-Pro-AGG-1-1 HGNC:34579 +HGNC:34578 TRP-AGG2-1 tRNA-Pro (anticodon AGG) 2-1 non-coding RNA RNA, transfer Approved 1q24.2 01q24.2 tRNA-Pro-AGG-2-1 TRNAP4 "transfer RNA proline 4 (anticodon AGG)|transfer RNA-Pro (AGG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-03 2019-04-03 100189019 HG983978 tRNA-Pro-AGG-2-1 HGNC:34578 +HGNC:34786 TRP-AGG2-2 tRNA-Pro (anticodon AGG) 2-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Pro-AGG-2-2 "TRNAP13|TRP-AGG2-7" "transfer RNA proline 13 (anticodon AGG)|transfer RNA-Pro (AGG) 2-7|transfer RNA-Pro (AGG) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189223 HG983984 tRNA-Pro-AGG-2-2 HGNC:34786 +HGNC:34840 TRP-AGG2-3 tRNA-Pro (anticodon AGG) 2-3 non-coding RNA RNA, transfer Approved 7q32.1 07q32.1 tRNA-Pro-AGG-2-3 "TRNAP15|TRP-AGG2-8" "transfer RNA proline 15 (anticodon AGG)|transfer RNA-Pro (AGG) 2-8|transfer RNA-Pro (AGG) 2-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189276 HG983985 tRNA-Pro-AGG-2-3 HGNC:34840 +HGNC:34631 TRP-AGG2-4 tRNA-Pro (anticodon AGG) 2-4 non-coding RNA RNA, transfer Approved 11q13.5 11q13.5 tRNA-Pro-AGG-2-4 "TRNAP6|TRP-AGG2-2" "transfer RNA proline 6 (anticodon AGG)|transfer RNA-Pro (AGG) 2-2|transfer RNA-Pro (AGG) 2-4" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189072 HG983979 tRNA-Pro-AGG-2-4 HGNC:34631 +HGNC:12330 TRP-AGG2-5 tRNA-Pro (anticodon AGG) 2-5 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Pro-AGG-2-5 "TRNP1|TRP1|TRNAP1|TRP-AGG2-3" "tRNA proline 1|tRNA proline 1 (anticodon AGG)|transfer RNA proline 1 (anticodon AGG)|transfer RNA-Pro (AGG) 2-3|transfer RNA-Pro (AGG) 2-5" Cytoplasmic transfer RNAs 842 1989-06-30 2016-02-15 2019-04-03 2019-05-08 7217 HG983980 3557125 189930 tRNA-Pro-AGG-2-5 HGNC:12330 +HGNC:12331 TRP-AGG2-6 tRNA-Pro (anticodon AGG) 2-6 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Pro-AGG-2-6 "TRNP1|TRP2|TRNAP2|TRP-AGG2-4" "tRNA proline 2|transfer RNA proline 2 (anticodon UGG)|transfer RNA proline 2 (anticodon AGG)|transfer RNA-Pro (AGG) 2-4|transfer RNA-Pro (AGG) 2-6" Cytoplasmic transfer RNAs 842 1989-06-30 2016-02-15 2019-04-03 2019-04-03 7218 HG983981 3557125 189931 tRNA-Pro-AGG-2-6 HGNC:12331 +HGNC:34698 TRP-AGG2-7 tRNA-Pro (anticodon AGG) 2-7 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Pro-AGG-2-7 "TRNAP9|TRP-AGG2-5" "transfer RNA proline 9 (anticodon AGG)|transfer RNA-Pro (AGG) 2-5|transfer RNA-Pro (AGG) 2-7" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189136 HG983982 tRNA-Pro-AGG-2-7 HGNC:34698 +HGNC:34862 TRP-AGG2-8 tRNA-Pro (anticodon AGG) 2-8 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Pro-AGG-2-8 "TRNAP18|TRP-AGG2-6" "transfer RNA proline 18 (anticodon AGG)|transfer RNA-Pro (AGG) 2-6|transfer RNA-Pro (AGG) 2-8" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-04-03 2019-04-03 100189296 HG983983 tRNA-Pro-AGG-2-8 HGNC:34862 +HGNC:34929 TRP-AGG3-1 tRNA-Pro (AGG) 3-1 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Pro-AGG-3-1 TRNAP20 "transfer RNA proline 20 (anticodon AGG)|transfer RNA-Pro (AGG) 3-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189361 HG983986 tRNA-Pro-AGG-3-1 +HGNC:35107 TRP-AGG4-1 tRNA-Pro (anticodon AGG) 4-1 pseudogene pseudogene Approved 2p11.2 02p11.2 tRNA-Pro-AGG-4-1 TRNAP28P "transfer RNA proline 28 (anticodon AGG) pseudogene|transfer RNA-Pro (AGG) 4-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189530 HG983987 NG_008588 tRNA-Pro-AGG-4-1 HGNC:35107 +HGNC:35055 TRP-AGG5-1 tRNA-Pro (anticodon AGG) 5-1 non-coding RNA RNA, transfer Approved 2p12 02p12 tRNA-Pro-AGG-5-1 TRNAP25P transfer RNA proline 25 (anticodon AGG) pseudogene 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189482 HG983988 NG_008540 tRNA-Pro-AGG-5-1 HGNC:35055 +HGNC:35049 TRP-AGG6-1 tRNA-Pro (anticodon AGG) 6-1 pseudogene pseudogene Approved 16p13.3 16p13.3 tRNA-Pro-AGG-6-1 TRNAP24P transfer RNA proline 24 (anticodon AGG) pseudogene Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-04-05 2019-12-06 100189476 HG983989 NG_008534 tRNA-Pro-AGG-6-1 HGNC:35049 +HGNC:34774 TRP-CGG1-1 tRNA-Pro (anticodon CGG) 1-1 non-coding RNA RNA, transfer Approved 1q24.2 01q24.2 tRNA-Pro-CGG-1-1 TRNAP11 "transfer RNA proline 11 (anticodon CGG)|transfer RNA-Pro (CGG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189211 HG983990 tRNA-Pro-CGG-1-1 HGNC:34774 +HGNC:34784 TRP-CGG1-2 tRNA-Pro (anticodon CGG) 1-2 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Pro-CGG-1-2 TRNAP12 "transfer RNA proline 12 (anticodon CGG)|transfer RNA-Pro (CGG) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189221 HG983991 tRNA-Pro-CGG-1-2 HGNC:34784 +HGNC:34686 TRP-CGG1-3 tRNA-Pro (anticodon CGG) 1-3 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Pro-CGG-1-3 TRNAP8 "transfer RNA proline 8 (anticodon CGG)|transfer RNA-Pro (CGG) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189124 HG983992 tRNA-Pro-CGG-1-3 HGNC:34686 +HGNC:34734 TRP-CGG2-1 tRNA-Pro (anticodon CGG) 2-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Pro-CGG-2-1 TRNAP10 "transfer RNA proline 10 (anticodon CGG)|transfer RNA-Pro (CGG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-04-05 2019-04-05 100189172 HG983993 tRNA-Pro-CGG-2-1 HGNC:34734 +HGNC:35026 TRP-GGG1-1 tRNA-Pro (GGG) 1-1 non-coding RNA RNA, transfer Approved 10p12.2 10p12.2 tRNA-Pro-GGG-1-1 TRNAP22P "transfer RNA proline 22 (anticodon GGG) pseudogene|transfer RNA-Pro (GGG) 1-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189455 HG983994 NG_008512 tRNA-Pro-GGG-1-1 HGNC:35026 +HGNC:34852 TRP-TGG1-1 tRNA-Pro (anticodon TGG) 1-1 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Pro-TGG-1-1 TRNAP17 "transfer RNA proline 17 (anticodon UGG)|transfer RNA-Pro (TGG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189286 HG983995 tRNA-Pro-TGG-1-1 HGNC:34852 +HGNC:34787 TRP-TGG2-1 tRNA-Pro (anticodon TGG) 2-1 non-coding RNA RNA, transfer Approved 11q13.5 11q13.5 tRNA-Pro-TGG-2-1 TRNAP14 "transfer RNA proline 14 (anticodon UGG)|transfer RNA-Pro (TGG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189224 HG983996 tRNA-Pro-TGG-2-1 HGNC:34787 +HGNC:12332 TRP-TGG3-1 tRNA-Pro (anticodon TGG) 3-1 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Pro-TGG-3-1 "TRP3|TRNAP3|TRP-TGG3-5" "tRNA proline (UGG) 3|transfer RNA proline 3 (anticodon UGG)|transfer RNA-Pro (TGG) 3-5|transfer RNA-Pro (TGG) 3-1" Cytoplasmic transfer RNAs 842 1990-02-24 2016-02-15 2019-05-01 2019-05-01 7219 HG984001 "2613239|2676726" 189912 tRNA-Pro-TGG-3-1 HGNC:12332 +HGNC:34648 TRP-TGG3-2 tRNA-Pro (anticodon TGG) 3-2 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Pro-TGG-3-2 "TRNAP7|TRP-TGG3-1" "transfer RNA proline 7 (anticodon UGG)|transfer RNA-Pro (TGG) 3-1|transfer RNA-Pro (TGG) 3-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189088 HG983997 tRNA-Pro-TGG-3-2 HGNC:34648 +HGNC:34903 TRP-TGG3-3 tRNA-Pro (anticodon TGG) 3-3 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Pro-TGG-3-3 "TRNAP19|TRP-TGG3-2" "transfer RNA proline 19 (anticodon UGG)|transfer RNA-Pro (TGG) 3-2|transfer RNA-Pro (TGG) 3-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189335 HG983998 tRNA-Pro-TGG-3-3 HGNC:34903 +HGNC:34956 TRP-TGG3-4 tRNA-Pro (anticodon TGG) 3-4 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Pro-TGG-3-4 "TRNAP21|TRP-TGG3-3" "transfer RNA proline 21 (anticodon UGG)|transfer RNA-Pro (TGG) 3-3|transfer RNA-Pro (TGG) 3-4" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189388 HG983999 tRNA-Pro-TGG-3-4 HGNC:34956 +HGNC:34847 TRP-TGG3-5 tRNA-Pro (anticodon TGG) 3-5 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Pro-TGG-3-5 "TRNAP16|TRP-TGG3-4" "transfer RNA proline 16 (anticodon UGG)|transfer RNA-Pro (TGG) 3-4|transfer RNA-Pro (TGG) 3-5" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189281 HG984000 tRNA-Pro-TGG-3-5 HGNC:34847 +HGNC:35056 TRP-TGG4-1 tRNA-Pro (anticodon TGG) 4-1 pseudogene pseudogene Approved 16p13.3 16p13.3 tRNA-Pro-TGG-4-1 TRNAP26P "transfer RNA proline 26 (anticodon UGG) pseudogene|transfer RNA-Pro (TGG) 4-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189483 HG984002 NG_008541 tRNA-Pro-TGG-4-1 HGNC:35056 +HGNC:35090 TRP-TGG5-1 tRNA-Pro (anticodon TGG) 5-1 pseudogene pseudogene Approved 1q32.1 01q32.1 tRNA-Pro-TGG-5-1 TRNAP27P "transfer RNA proline 27 (anticodon UGG) pseudogene|transfer RNA-Pro (TGG) 5-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189515 HG984003 NG_008573 tRNA-Pro-TGG-5-1 HGNC:35090 +HGNC:497 TRPA1 transient receptor potential cation channel subfamily A member 1 protein-coding gene gene with protein product Approved 8q21.11 08q21.11 ANKTM1 "ankyrin-like with transmembrane domains 1|transient receptor potential cation channel, subfamily A, member 1" "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 1999-01-15 2003-11-20 2016-01-28 2021-05-26 8989 ENSG00000104321 OTTHUMG00000164516 uc003xza.4 Y10601 NM_007332 CCDS34908 O75762 16382100 MGI:3522699 RGD:1303284 604775 394596 objectId:485 HGNC:497 "ENST00000262209.5|NM_007332.3" HGNC:497 +HGNC:12333 TRPC1 transient receptor potential cation channel subfamily C member 1 protein-coding gene gene with protein product Approved 3q23 03q23 HTRP-1 transient receptor potential cation channel, subfamily C, member 1 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 1995-09-01 2016-01-28 2016-01-28 7220 ENSG00000144935 OTTHUMG00000159301 uc003evb.4 X89066 NM_003304 "CCDS3126|CCDS58856" P48995 "7568191|16382100" MGI:109528 RGD:619783 602343 objectId:486 HGNC:12333 "ENST00000476941.6|NM_001251845.2" +HGNC:12334 TRPC2 transient receptor potential cation channel subfamily C member 2 (pseudogene) pseudogene pseudogene Approved 11p15.4 11p15.4 "transient receptor potential cation channel, subfamily C, member 2|transient receptor potential cation channel, subfamily C, member 2, pseudogene" Transient receptor potential cation channels 249 1995-09-01 2018-01-12 2018-01-12 7221 ENSG00000182048 OTTHUMG00000011712 X89067 NR_002720 "7568191|16382100|17217050" MGI:109527 RGD:628819 HGNC:12334 +HGNC:12335 TRPC3 transient receptor potential cation channel subfamily C member 3 protein-coding gene gene with protein product Approved 4q27 04q27 transient receptor potential cation channel, subfamily C, member 3 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 1995-09-01 2016-01-28 2016-01-28 7222 ENSG00000138741 OTTHUMG00000133069 uc003ief.3 Y13758 NM_003305 "CCDS47130|CCDS3725" Q13507 "8646775|16382100" MGI:109526 RGD:61973 602345 460869 objectId:488 HGNC:12335 "ENST00000379645.8|NM_001130698.2" HGNC:12335 +HGNC:12336 TRPC4 transient receptor potential cation channel subfamily C member 4 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 "HTRP4|TRP4" transient receptor potential cation channel, subfamily C, member 4 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 1996-03-12 2016-01-28 2016-01-28 7223 ENSG00000133107 OTTHUMG00000016752 uc001uws.4 U40983 NM_003306 "CCDS45037|CCDS45039|CCDS9365|CCDS45038|CCDS45035|CCDS45036" Q9UBN4 "8646775|16382100" MGI:109525 RGD:621276 603651 objectId:489 HGNC:12336 "ENST00000379705.8|NM_016179.4" +HGNC:16181 TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "DKFZP727M231|DKFZp586C1223|dJ756N5.2|TRRP4AP|PPP1R158" protein phosphatase 1, regulatory subunit 158 C20orf188 "chromosome 20 open reading frame 188|transient receptor potential cation channel, subfamily C, member 4 associated protein" "Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing" "694|1492" 2001-07-17 2003-10-08 2016-01-28 2016-10-05 26133 ENSG00000100991 OTTHUMG00000032319 uc002xbk.4 AF055022 NM_015638 "CCDS13246|CCDS46591" Q8TEL6 MGI:1930751 RGD:1309914 608430 HGNC:16181 "ENST00000252015.3|NM_015638.3" HGNC:16181 +HGNC:12337 TRPC5 transient receptor potential cation channel subfamily C member 5 protein-coding gene gene with protein product Approved Xq23 Xq23 PPP1R159 protein phosphatase 1, regulatory subunit 159 transient receptor potential cation channel, subfamily C, member 5 "Transient receptor potential cation channels|Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits" "249|403|694" 1996-03-12 2016-01-28 2020-04-02 7224 ENSG00000072315 OTTHUMG00000022212 uc004epl.2 AF054568 NM_012471 CCDS14561 Q9UL62 "10493832|16382100" MGI:109524 RGD:619787 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TRPC5 300334 471268 objectId:490 HGNC:12337 "ENST00000262839.3|NM_012471.3" +HGNC:40593 TRPC5OS TRPC5 opposite strand protein-coding gene gene with protein product Approved Xq23 Xq23 TRPC5-AS1 TRPC5 antisense RNA 1 (non-protein coding) 2011-07-29 2012-06-25 2012-06-25 2017-11-03 100329135 ENSG00000204025 OTTHUMG00000022211 uc065atp.1 NM_001195576 CCDS83485 A6NMA1 MGI:3641805 RGD:6503255 HGNC:40593 "ENST00000635763.2|NM_001195578.2" +HGNC:12338 TRPC6 transient receptor potential cation channel subfamily C member 6 protein-coding gene gene with protein product Approved 11q22.1 11q22.1 TRP6 FSGS2 "focal segmental glomerulosclerosis 2|transient receptor potential cation channel, subfamily C, member 6" "Transient receptor potential cation channels|Ankyrin repeat domain containing|MicroRNA protein coding host genes" "249|403|1691" 1998-08-05 2016-01-28 2021-05-26 7225 ENSG00000137672 OTTHUMG00000167483 uc001pgk.4 AJ006276 NM_004621 CCDS8311 Q9Y210 "9925922|16382100|15879175" MGI:109523 RGD:619788 603652 120298 objectId:491 HGNC:12338 "ENST00000344327.8|NM_004621.6" HGNC:12338 +HGNC:23270 TRPC6P1 TRPC6 pseudogene 1 pseudogene pseudogene Approved Xq28 and Yq12 Xq28 and Yq12 TRPC6L TRPC6P "transient receptor potential cation channel, subfamily C, member 6 pseudogene|transient receptor potential cation channel subfamily C member 6, pseudogene" Pseudoautosomal region 2 716 2006-09-22 2021-11-10 2021-11-10 2021-11-10 644218 ENSG00000223484 OTTHUMG00000022681 NG_005687 PGOHUM00000241624 HGNC:23270 +HGNC:55943 TRPC6P2 TRPC6 pseudogene 2 pseudogene pseudogene Approved 5q32 05q32 2021-11-10 2021-11-10 650866 ENSG00000249363 NG_006152 PGOHUM00000300781 +HGNC:55944 TRPC6P3 TRPC6 pseudogene 3 pseudogene pseudogene Approved 7q36.1 07q36.1 2021-11-10 2021-11-10 100288724 ENSG00000232361 NG_022550 PGOHUM00000302487 +HGNC:55945 TRPC6P4 TRPC6 pseudogene 4 pseudogene pseudogene Approved 9q31.1 09q31.1 2021-11-10 2021-11-10 100422500 ENSG00000238143 NG_023855 PGOHUM00000304010 +HGNC:55946 TRPC6P5 TRPC6 pseudogene 5 pseudogene pseudogene Approved 11q23.3 11q23.3 2021-11-10 2021-11-10 123464510 ENSG00000254515 PGOHUM00000291150 +HGNC:55947 TRPC6P6 TRPC6 pseudogene 6 pseudogene pseudogene Approved 5p14.1 05p14.1 2021-11-10 2021-11-10 100422502 ENSG00000250099 NG_024580 PGOHUM00000300531 +HGNC:55948 TRPC6P7 TRPC6 pseudogene 7 pseudogene pseudogene Approved 4q35.1 04q35.1 2021-11-10 2021-11-10 123464511 ENSG00000251147 PGOHUM00000300090 +HGNC:55949 TRPC6P8 TRPC6 pseudogene 8 pseudogene pseudogene Approved 7q33 07q33 2021-11-10 2021-11-10 123464512 ENSG00000236503 PGOHUM00000302439 +HGNC:55950 TRPC6P9 TRPC6 pseudogene 9 pseudogene pseudogene Approved 5p14.2 05p14.2 2021-11-10 2021-11-10 123464513 ENSG00000249607 PGOHUM00000300897 +HGNC:55951 TRPC6P10 TRPC6 pseudogene 10 pseudogene pseudogene Approved 7p14.3 07p14.3 2021-11-10 2021-11-10 123464518 ENSG00000226874 PGOHUM00000302568 +HGNC:20754 TRPC7 transient receptor potential cation channel subfamily C member 7 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 transient receptor potential cation channel, subfamily C, member 7 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2003-03-31 2016-01-28 2016-10-25 57113 ENSG00000069018 OTTHUMG00000189265 uc003lbn.3 AJ272034 NM_020389 "CCDS47267|CCDS54905|CCDS54906" Q9HCX4 "11805119|16382100" MGI:1349470 RGD:628820 objectId:492 HGNC:20754 "ENST00000513104.6|NM_020389.3" +HGNC:40936 TRPC7-AS1 TRPC7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 TRPC7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2021-02-05 100874024 ENSG00000248211 OTTHUMG00000162034 uc063hgv.1 NR_046708 TRPC7-AS1 +HGNC:40937 TRPC7-AS2 TRPC7 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 TRPC7 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-01-23 2012-08-15 2021-02-05 106478968 ENSG00000250947 OTTHUMG00000162036 uc063hgw.1 NR_133682 TRPC7-AS2 HGNC:40937 +HGNC:7146 TRPM1 transient receptor potential cation channel subfamily M member 1 protein-coding gene gene with protein product Approved 15q13.3 15q13.3 "LTRPC1|CSNB1C" MLSN1 "melastatin 1|transient receptor potential cation channel, subfamily M, member 1" "Transient receptor potential cation channels|MicroRNA protein coding host genes" "249|1691" 1998-05-26 2002-01-18 2016-01-28 2021-05-26 4308 ENSG00000134160 OTTHUMG00000129267 uc001zfm.4 AF071787 NM_002420 "CCDS58346|CCDS10024|CCDS58345|CCDS58347" Q7Z4N2 "9806836|9537257|16382100" MGI:1330305 RGD:1597140 603576 225280 objectId:493 HGNC:7146 "ENST00000256552.11|NM_001252024.2" HGNC:7146 +HGNC:12339 TRPM2 transient receptor potential cation channel subfamily M member 2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "KNP3|LTRPC2|NUDT9L1|NUDT9H|EREG1" TRPC7 transient receptor potential cation channel, subfamily M, member 2 "Transient receptor potential cation channels|Nudix hydrolase family" "249|667" 1998-03-23 2002-01-18 2016-01-28 2016-01-28 7226 ENSG00000142185 OTTHUMG00000040840 uc002zet.1 AB001535 NM_003307 "CCDS13710|CCDS82681" O94759 "9806837|11385575|16382100" MGI:1351901 RGD:1311889 603749 objectId:494 HGNC:12339 "ENST00000397928.6|NM_003307.4" +HGNC:50758 TRPM2-AS TRPM2 antisense RNA non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 TRPM2-AS1 Antisense RNAs 1987 2014-06-01 2017-07-14 101928607 ENSG00000230061 OTTHUMG00000040845 AK057275 NR_109964 "18957938|24931166|28678322" TRPM2-AS HGNC:50758 +HGNC:17992 TRPM3 transient receptor potential cation channel subfamily M member 3 protein-coding gene gene with protein product Approved 9q21.12-q21.13 09q21.12-q21.13 "KIAA1616|LTRPC3|GON-2" melastatin 2 transient receptor potential cation channel, subfamily M, member 3 "Transient receptor potential cation channels|MicroRNA protein coding host genes" "249|1691" 2002-01-11 2016-01-28 2021-05-26 80036 ENSG00000083067 OTTHUMG00000019997 uc004aid.5 AB046836 NM_206945 "CCDS6637|CCDS65064|CCDS6634|CCDS6635|CCDS6636|CCDS43835" Q9HCF6 16382100 MGI:2443101 RGD:1304888 608961 objectId:495 HGNC:17992 "ENST00000677713.2|NM_001366145.2" HGNC:17992 +HGNC:17993 TRPM4 transient receptor potential cation channel subfamily M member 4 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FLJ20041 transient receptor potential cation channel, subfamily M, member 4 Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2021-05-26 54795 ENSG00000130529 OTTHUMG00000183184 uc002pmw.4 AK000048 NM_017636 "CCDS56098|CCDS33073" Q8TD43 "11535825|16382100" MGI:1915917 RGD:620244 606936 209301 objectId:496 HGNC:17993 "ENST00000252826.10|NM_017636.4" HGNC:17993 +HGNC:14323 TRPM5 transient receptor potential cation channel subfamily M member 5 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "LTRPC5|MTR1" transient receptor potential cation channel, subfamily M, member 5 Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2016-01-28 29850 ENSG00000070985 OTTHUMG00000009896 uc001lwm.5 AF177473 NM_014555 CCDS31340 Q9NZQ8 "10607831|16382100" MGI:1861718 RGD:1310620 604600 objectId:497 HGNC:14323 +HGNC:17995 TRPM6 transient receptor potential cation channel subfamily M member 6 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 "CHAK2|FLJ22628" "HOMG|HSH" "hypomagnesemia, secondary hypocalcemia|transient receptor potential cation channel, subfamily M, member 6" Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2021-05-26 140803 ENSG00000119121 OTTHUMG00000020027 uc004ajl.1 AK026281 NM_017662 "CCDS55318|CCDS55319|CCDS6647" Q9BX84 "10021370|12032570|16382100" MGI:2675603 RGD:1309942 607009 120301 objectId:498 HGNC:17995 "ENST00000360774.6|NM_017662.5" HGNC:17995 +HGNC:17994 TRPM7 transient receptor potential cation channel subfamily M member 7 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "CHAK1|LTRPC7|TRP-PLIK" transient receptor potential cation channel, subfamily M, member 7 Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2021-05-26 54822 ENSG00000092439 OTTHUMG00000172449 uc001zyt.5 AF346629 NM_017672 "CCDS42035|CCDS73725" Q96QT4 "11161216|11385574|16382100" MGI:1929996 RGD:620053 LRG_1192|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1192.xml 605692 159298 objectId:499 HGNC:17994 "ENST00000646667.1|NM_017672.6" HGNC:17994 +HGNC:17961 TRPM8 transient receptor potential cation channel subfamily M member 8 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 transient receptor potential cation channel, subfamily M, member 8 Transient receptor potential cation channels 249 2002-01-11 2016-01-28 2016-10-05 79054 ENSG00000144481 OTTHUMG00000059129 uc002vvh.3 AC005538 NM_024080 CCDS33407 Q7Z2W7 16382100 MGI:2181435 RGD:620762 606678 objectId:500 HGNC:17961 "ENST00000324695.9|NM_024080.5" +HGNC:12340 TRPS1 transcriptional repressor GATA binding 1 protein-coding gene gene with protein product Approved 8q23.3 08q23.3 "LGCR|GC79" trichorhinophalangeal syndrome I "Zinc fingers C2H2-type|GATA zinc finger domain containing" "28|82" 1995-07-06 2016-02-15 2021-05-26 7227 ENSG00000104447 OTTHUMG00000142829 uc003yny.5 AF183810 NM_014112 "CCDS64957|CCDS6318|CCDS83316" Q9UHF7 "8530105|10615131|10647898" MGI:1927616 RGD:1311883 604386 120307 HGNC:12340 "ENST00000395715.8|NM_014112.5" HGNC:12340 +HGNC:20316 TRPT1 tRNA phosphotransferase 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 MGC11134 tRNA splicing 2' phosphotransferase 1 2003-05-22 2020-04-20 83707 ENSG00000149743 OTTHUMG00000167844 uc001nyo.4 NM_031472 "CCDS31595|CCDS44639|CCDS53652|CCDS53653|CCDS81579" Q86TN4 14504659 MGI:1333115 RGD:1310831 610470 HGNC:20316 "ENST00000317459.11|NM_001033678.4" +HGNC:12716 TRPV1 transient receptor potential cation channel subfamily V member 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 VR1 "vanilloid receptor subtype 1|transient receptor potential cation channel, subfamily V, member 1" "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 1997-12-05 2002-02-01 2016-01-28 2016-01-28 7442 ENSG00000196689 OTTHUMG00000177649 uc010vru.3 AJ272063 NM_018727 CCDS45576 Q8NER1 "9349813|11549313|16382100" MGI:1341787 RGD:628841 602076 objectId:507 HGNC:12716 "ENST00000572705.2|NM_080704.4" +HGNC:18082 TRPV2 transient receptor potential cation channel subfamily V member 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "VRL|VRL-1|VRL1" transient receptor potential cation channel, subfamily V, member 2 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2002-01-29 2016-01-28 2016-01-28 51393 ENSG00000187688 OTTHUMG00000058989 uc002gpy.3 AF129112 NM_016113 CCDS32576 Q9Y5S1 "10201375|16382100" MGI:1341836 RGD:3965 606676 objectId:508 HGNC:18082 "ENST00000338560.12|NM_016113.5" +HGNC:18084 TRPV3 transient receptor potential cation channel subfamily V member 3 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 VRL3 transient receptor potential cation channel, subfamily V, member 3 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2002-07-05 2016-01-28 2021-05-26 162514 ENSG00000167723 OTTHUMG00000090695 uc002fvt.3 AF514998 NM_145068 "CCDS58500|CCDS11029" Q8NET8 "12016205|12077606|16382100" MGI:2181407 RGD:1564531 607066 294456 objectId:509 HGNC:18084 "ENST00000576742.6|NM_145068.4" HGNC:18084 +HGNC:18083 TRPV4 transient receptor potential cation channel subfamily V member 4 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "OTRPC4|TRP12|VROAC|VRL-2|VR-OAC|CMT2C" osmosensitive transient receptor potential channel 4 transient receptor potential cation channel, subfamily V, member 4 "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2002-01-29 2016-01-28 2021-05-26 59341 ENSG00000111199 OTTHUMG00000169277 uc001tpk.3 AF263523 NM_021625 "CCDS53829|CCDS9134|CCDS53827|CCDS9135|CCDS53828" Q9HBA0 "11025659|11081638|16382100|20037587" MGI:1926945 RGD:69337 LRG_372|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_372.xml 605427 171081 objectId:510 HGNC:18083 "ENST00000261740.7|NM_021625.5" HGNC:18083 +HGNC:3145 TRPV5 transient receptor potential cation channel subfamily V member 5 protein-coding gene gene with protein product Approved 7q34 07q34 CaT2 ECAC1 "epithelial calcium channel 1|transient receptor potential cation channel, subfamily V, member 5" "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2000-05-05 2002-02-01 2016-01-28 2016-01-28 56302 ENSG00000127412 OTTHUMG00000157157 uc003wby.2 AJ271207 NM_019841 CCDS5875 Q9NQA5 "10944439|10945469|16382100" MGI:2429764 RGD:620636 606679 objectId:511 HGNC:3145 "ENST00000265310.6|NM_019841.7" +HGNC:14006 TRPV6 transient receptor potential cation channel subfamily V member 6 protein-coding gene gene with protein product Approved 7q34 07q34 CaT1 ECAC2 "epithelial calcium channel 2|transient receptor potential cation channel, subfamily V, member 6" "Transient receptor potential cation channels|Ankyrin repeat domain containing" "249|403" 2000-11-24 2002-02-01 2016-01-28 2021-05-26 55503 ENSG00000165125 OTTHUMG00000157158 uc003wbx.5 AJ277909 NM_014274 CCDS5874 Q9H1D0 "11097838|11549322|16382100|16717058" MGI:1927259 RGD:69335 606680 objectId:512 HGNC:14006 "ENST00000359396.9|NM_018646.6" HGNC:14006 +HGNC:34853 TRQ-CTG1-1 tRNA-Gln (anticodon CTG) 1-1 non-coding RNA RNA, transfer Approved 6p22.3 06p22.3 tRNA-Gln-CTG-1-1 "TRNAQ22|TRQ-CTG1-3" "transfer RNA glutamine 22 (anticodon CUG)|transfer RNA-Gln (CTG) 1-3|transfer RNA-Gln (CTG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189287 HG983718 tRNA-Gln-CTG-1-1 HGNC:34853 +HGNC:34752 TRQ-CTG1-2 tRNA-Gln (anticodon CTG) 1-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Gln-CTG-1-2 "TRNAQ16|TRQ-CTG1-4" "transfer RNA glutamine 16 (anticodon CUG)|transfer RNA-Gln (CTG) 1-4|transfer RNA-Gln (CTG) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189189 HG983719 tRNA-Gln-CTG-1-2 HGNC:34752 +HGNC:34683 TRQ-CTG1-3 tRNA-Gln (anticodon CTG) 1-3 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Gln-CTG-1-3 "TRNAQ11|TRQ-CTG1-5" "transfer RNA glutamine 11 (anticodon CUG)|transfer RNA-Gln (CTG) 1-5|transfer RNA-Gln (CTG) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189121 HG983720 tRNA-Gln-CTG-1-3 HGNC:34683 +HGNC:34884 TRQ-CTG1-4 tRNA-Gln (anticodon CTG) 1-4 non-coding RNA RNA, transfer Approved 15q22.31 15q22.31 tRNA-Gln-CTG-1-4 "TRNAQ24|TRQ-CTG1-1" "transfer RNA glutamine 24 (anticodon CUG)|transfer RNA-Gln (CTG) 1-1|transfer RNA-Gln (CTG) 1-4" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189317 HG983716 tRNA-Gln-CTG-1-4 HGNC:34884 +HGNC:12341 TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Gln-CTG-1-5 "TRQ1|TRNAQ1|TRQ-CTG1-2" "tRNA glutamine 1|tRNA glutamine 1 (anticodon CUG)|transfer RNA glutamine 1 (anticodon CUG)|transfer RNA-Gln (CTG) 1-2|transfer RNA-Gln (CTG) 1-5" Cytoplasmic transfer RNAs 842 1989-06-30 2016-02-15 2019-05-01 2019-05-01 7228 HG983717 189919 tRNA-Gln-CTG-1-5 HGNC:12341 +HGNC:34831 TRQ-CTG2-1 tRNA-Gln (anticodon CTG) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Gln-CTG-2-1 TRNAQ21 "transfer RNA glutamine 21 (anticodon CUG)|transfer RNA-Gln (CTG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189268 HG983721 tRNA-Gln-CTG-2-1 HGNC:34831 +HGNC:34954 TRQ-CTG3-1 tRNA-Gln (anticodon CTG) 3-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Gln-CTG-3-1 TRNAQ29 "transfer RNA glutamine 29 (anticodon CUG)|transfer RNA-Gln (CTG) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2020-02-13 107985755 HG983722 tRNA-Gln-CTG-3-1 +HGNC:34702 TRQ-CTG3-2 tRNA-Gln (anticodon CTG) 3-2 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Gln-CTG-3-2 TRNAQ13 "transfer RNA glutamine 13 (anticodon CUG)|transfer RNA-Gln (CTG) 3-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189140 HG983723 tRNA-Gln-CTG-3-2 HGNC:34702 +HGNC:34615 TRQ-CTG4-1 tRNA-Gln (anticodon CTG) 4-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Gln-CTG-4-1 TRNAQ8 "transfer RNA glutamine 8 (anticodon CUG)|transfer RNA-Gln (CTG) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189056 HG983724 tRNA-Gln-CTG-4-1 HGNC:34615 +HGNC:34824 TRQ-CTG4-2 tRNA-Gln (anticodon CTG) 4-2 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Gln-CTG-4-2 TRNAQ20 "transfer RNA glutamine 20 (anticodon CUG)|transfer RNA-Gln (CTG) 4-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189261 HG983725 tRNA-Gln-CTG-4-2 HGNC:34824 +HGNC:34896 TRQ-CTG5-1 tRNA-Gln (anticodon CTG) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Gln-CTG-5-1 TRNAQ27 "transfer RNA glutamine 27 (anticodon CUG)|transfer RNA-Gln (CTG) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189329 HG983726 tRNA-Gln-CTG-5-1 HGNC:34896 +HGNC:34777 TRQ-CTG6-1 tRNA-Gln (anticodon CTG) 6-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Gln-CTG-6-1 TRNAQ17 "transfer RNA glutamine 17 (anticodon CUG)|transfer RNA-Gln (CTG) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189214 HG983727 tRNA-Gln-CTG-6-1 HGNC:34777 +HGNC:34555 TRQ-CTG7-1 tRNA-Gln (anticodon CTG) 7-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Gln-CTG-7-1 TRNAQ3 "transfer RNA glutamine 3 (anticodon CUG)|transfer RNA-Gln (CTG) 7-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100188998 HG983728 tRNA-Gln-CTG-7-1 HGNC:34555 +HGNC:34780 TRQ-CTG8-1 tRNA-Gln (CTG) 8-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Gln-CTG-8-1 TRNAQ19 "transfer RNA glutamine 19 (anticodon CUG)|transfer RNA-Gln (CTG) 8-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189217 HG983729 tRNA-Gln-CTG-8-1 +HGNC:34716 TRQ-CTG8-2 tRNA-Gln (CTG) 8-2 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Gln-CTG-8-2 TRNAQ14 "transfer RNA glutamine 14 (anticodon CUG)|transfer RNA-Gln (CTG) 8-2" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189154 HG983730 tRNA-Gln-CTG-8-2 +HGNC:54206 TRQ-CTG8-3 tRNA-Gln (CTG) 8-3 non-coding RNA RNA, transfer Approved 21p11.2 21p11.2 tRNA-Gln-CTG-8-3 Low confidence cytoplasmic transfer RNAs 1877 2019-03-28 2019-03-28 +HGNC:35108 TRQ-CTG9-1 tRNA-Gln (anticodon CTG) 9-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Gln-CTG-9-1 TRNAQ51P "transfer RNA glutamine 51 (anticodon CUG) pseudogene|transfer RNA-Gln (CTG) 9-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189531 HG983731 NG_008589 tRNA-Gln-CTG-9-1 HGNC:35108 +HGNC:34889 TRQ-CTG10-1 tRNA-Gln (CTG) 10-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Gln-CTG-10-1 TRNAQ26 "transfer RNA glutamine 26 (anticodon CUG)|transfer RNA-Gln (CTG) 10-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189322 HG983732 tRNA-Gln-CTG-10-1 +HGNC:35023 TRQ-CTG11-1 tRNA-Gln (anticodon CTG) 11-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Gln-CTG-11-1 TRNAQ37P "transfer RNA glutamine 37 (anticodon CUG) pseudogene|transfer RNA-Gln (CTG) 11-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189452 HG983733 NG_008508 tRNA-Gln-CTG-11-1 HGNC:35023 +HGNC:34957 TRQ-CTG12-1 tRNA-Gln (anticodon CTG) 12-1 non-coding RNA RNA, transfer Approved 12q21.1 12q21.1 tRNA-Gln-CTG-12-1 TRNAQ30 "transfer RNA glutamine 30 (anticodon CUG)|transfer RNA-Gln (CTG) 12-1|tRNA-Gln (CTG) 12-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-12-06 2019-12-06 100189389 HG983734 tRNA-Gln-CTG-12-1 +HGNC:35115 TRQ-CTG13-1 tRNA-Gln (anticodon CTG) 13-1 pseudogene pseudogene Approved 5q33.1 05q33.1 tRNA-Gln-CTG-13-1 TRNAQ53P "transfer RNA glutamine 53 (anticodon CUG) pseudogene|transfer RNA-Gln (CTG) 13-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189538 HG983735 NG_008596 tRNA-Gln-CTG-13-1 HGNC:35115 +HGNC:38574 TRQ-CTG14-1 tRNA-Gln (anticodon CTG) 14-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Gln-CTG-14-1 TRNAQ55 "transfer RNA glutamine 55 (anticodon CUG)|transfer RNA-Gln (CTG) 14-1" 2010-06-23 2014-06-19 2019-05-01 2019-05-01 100189523 HG983736 NG_008581 tRNA-Gln-CTG-14-1 +HGNC:34575 TRQ-CTG15-1 tRNA-Gln (anticodon CTG) 15-1 non-coding RNA RNA, transfer Approved 9 09 tRNA-Gln-CTG-15-1 TRNAQ6 "transfer RNA glutamine 6 (anticodon CUG)|transfer RNA-Gln (CTG) 15-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189016 HG983737 tRNA-Gln-CTG-15-1 +HGNC:35078 TRQ-CTG16-1 tRNA-Gln (anticodon CTG) 16-1 pseudogene pseudogene Approved 2q35 02q35 tRNA-Gln-CTG-16-1 TRNAQ44P "transfer RNA glutamine 44 (anticodon CUG) pseudogene|transfer RNA-Gln (CTG) 16-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189503 HG983738 NG_008561 tRNA-Gln-CTG-16-1 HGNC:35078 +HGNC:34868 TRQ-CTG17-1 tRNA-Gln (anticodon CTG) 17-1 pseudogene pseudogene Approved 20 20 tRNA-Gln-CTG-17-1 TRNAQ23 "transfer RNA glutamine 23 (anticodon CUG)|transfer RNA-Gln (CTG) 17-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189302 HG983739 tRNA-Gln-CTG-17-1 +HGNC:34919 TRQ-CTG18-1 tRNA-Gln (anticodon CTG) 18-1 non-coding RNA RNA, transfer Approved 16q22.2 16q22.2 tRNA-Gln-CTG-18 TRNAQ28 "transfer RNA glutamine 28 (anticodon CUG)|transfer RNA-Gln (CTG) 18-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189351 HG983740 tRNA-Gln-CTG-18-1 +HGNC:12342 TRQ-TTG1-1 tRNA-Gln (anticodon TTG) 1-1 non-coding RNA RNA, transfer Approved 17q21.32 17q21.32 tRNA-Gln-TTG-1-1 "TRQ2|TRNAQ2" "tRNA glutamine 2|transfer RNA glutamine 2|transfer RNA glutamine 2 (anticodon UUG)|transfer RNA-Gln (TTG) 1-1" Cytoplasmic transfer RNAs 842 1992-02-27 2014-06-19 2019-05-01 2019-05-01 7229 HG983741 2041751 189923 tRNA-Gln-TTG-1-1 HGNC:12342 +HGNC:34700 TRQ-TTG2-1 tRNA-Gln (anticodon TTG) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Gln-TTG-2-1 TRNAQ12 "transfer RNA glutamine 12 (anticodon UUG)|transfer RNA-Gln (TTG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189138 HG983742 tRNA-Gln-TTG-2-1 HGNC:34700 +HGNC:34888 TRQ-TTG3-1 tRNA-Gln (anticodon TTG) 3-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Gln-TTG-3-1 TRNAQ25 "transfer RNA glutamine 25 (anticodon UUG)|transfer RNA-Gln (TTG) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189321 HG983743 tRNA-Gln-TTG-3-1 HGNC:34888 +HGNC:34748 TRQ-TTG3-2 tRNA-Gln (anticodon TTG) 3-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Gln-TTG-3-2 TRNAQ15 "transfer RNA glutamine 15 (anticodon UUG)|transfer RNA-Gln (TTG) 3-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189185 HG983744 tRNA-Gln-TTG-3-2 HGNC:34748 +HGNC:34633 TRQ-TTG3-3 tRNA-Gln (anticodon TTG) 3-3 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Gln-TTG-3-3 TRNAQ10 "transfer RNA glutamine 10 (anticodon UUG)|transfer RNA-Gln (TTG) 3-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189074 HG983745 tRNA-Gln-TTG-3-3 HGNC:34633 +HGNC:34991 TRQ-TTG4-1 tRNA-Gln (anticodon TTG) 4-1 non-coding RNA RNA, transfer Approved 6q24.3 06q24.3 tRNA-Gln-TTG-4-1 TRNAQ32 "transfer RNA glutamine 32 (anticodon UUG)|transfer RNA-Gln (TTG) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189422 HG983746 tRNA-Gln-TTG-4-1 HGNC:34991 +HGNC:35046 TRQ-TTG5-1 tRNA-Gln (anticodon TTG) 5-1 pseudogene pseudogene Approved 2p21 02p21 tRNA-Gln-TTG-5-1 TRNAQ39P "transfer RNA glutamine 39 (anticodon UUG) pseudogene|transfer RNA-Gln (TTG) 5-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189473 HG983747 NG_008531 tRNA-Gln-TTG-5-1 HGNC:35046 +HGNC:34585 TRQ-TTG6-1 tRNA-Gln (anticodon TTG) 6-1 pseudogene pseudogene Approved 4 04 tRNA-Gln-TTG-6-1 TRNAQ7 "transfer RNA glutamine 7 (anticodon UUG)|transfer RNA-Gln (TTG) 6-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189026 HG983748 tRNA-Gln-TTG-6-1 +HGNC:35014 TRQ-TTG7-1 tRNA-Gln (anticodon TTG) 7-1 non-coding RNA RNA, transfer Approved 5q14.1 05q14.1 tRNA-Gln-TTG-7-1 TRNAQ33P "transfer RNA glutamine 33 (anticodon UUG) pseudogene|transfer RNA-Gln (TTG) 7-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189444 HG983749 NG_007268 tRNA-Gln-TTG-7-1 HGNC:35014 +HGNC:35080 TRQ-TTG8-1 tRNA-Gln (anticodon TTG) 8-1 non-coding RNA RNA, transfer Approved 19p13.2 19p13.2 tRNA-Gln-TTG-8-1 TRNAQ45P "transfer RNA glutamine 45 (anticodon UUG) pseudogene|transfer RNA-Gln (TTG) 8-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189505 HG983750 NG_008563 tRNA-Gln-TTG-8-1 HGNC:35080 +HGNC:35084 TRQ-TTG9-1 tRNA-Gln (anticodon TTG) 9-1 non-coding RNA RNA, transfer Approved 12q23.1 12q23.1 tRNA-Gln-TTG-9-1 TRNAQ46P "transfer RNA glutamine 46 (anticodon UUG) pseudogene|transfer RNA-Gln (TTG) 9-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189509 HG983751 NG_008567 tRNA-Gln-TTG-9-1 HGNC:35084 +HGNC:34569 TRQ-TTG10-1 tRNA-Gln (anticodon TTG) 10-1 pseudogene pseudogene Approved 6 06 tRNA-Gln-TTG-10-1 TRNAQ5 "transfer RNA glutamine 5 (anticodon UUG)|transfer RNA-Gln (TTG) 10-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189010 HG983752 tRNA-Gln-TTG-10-1 +HGNC:34964 TRR-ACG1-1 tRNA-Arg (anticodon ACG) 1-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Arg-ACG-1-1 "TRNAR26|TRR-ACG1-2" "transfer RNA arginine 26 (anticodon ACG)|transfer RNA-Arg (ACG) 1-2|transfer RNA-Arg (ACG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189396 HG983595 tRNA-Arg-ACG-1-1 HGNC:34964 +HGNC:12344 TRR-ACG1-2 tRNA-Arg (anticodon ACG) 1-2 non-coding RNA RNA, transfer Approved 6p21.3 06p21.3 tRNA-Arg-ACG-1-2 "TRR2|TRNAR2|TRR-ACG1-3" "tRNA arginine (ACG) 2|tRNA arginine 2 (anticodon ACG)|transfer RNA arginine 2 (anticodon ACG)|transfer RNA-Arg (ACG) 1-3|transfer RNA-Arg (ACG) 1-2" Cytoplasmic transfer RNAs 842 1993-04-21 2016-02-15 2019-05-01 2019-05-01 7231 HG983596 1457046 615305 tRNA-Arg-ACG-1-2 HGNC:12344 +HGNC:34806 TRR-ACG1-3 tRNA-Arg (anticodon ACG) 1-3 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Arg-ACG-1-3 "TRNAR21|TRR-ACG1-1" "transfer RNA arginine 21 (anticodon ACG)|transfer RNA-Arg (ACG) 1-1|transfer RNA-Arg (ACG) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-08 100189243 HG983594 tRNA-Arg-ACG-1-3 HGNC:34806 +HGNC:34664 TRR-ACG2-1 tRNA-Arg (anticodon ACG) 2-1 non-coding RNA RNA, transfer Approved 3p21.31 03p21.31 tRNA-Arg-ACG-2-1 TRNAR11 "transfer RNA arginine 11 (anticodon ACG)|transfer RNA-Arg (ACG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189103 HG983597 tRNA-Arg-ACG-2-1 HGNC:34664 +HGNC:34729 TRR-ACG2-2 tRNA-Arg (anticodon ACG) 2-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Arg-ACG-2-2 TRNAR17 "transfer RNA arginine 17 (anticodon ACG)|transfer RNA-Arg (ACG) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189167 HG983598 tRNA-Arg-ACG-2-2 HGNC:34729 +HGNC:34660 TRR-ACG2-3 tRNA-Arg (anticodon ACG) 2-3 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Arg-ACG-2-3 TRNAR10 "transfer RNA arginine 10 (anticodon ACG)|transfer RNA-Arg (ACG) 2-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189099 HG983599 tRNA-Arg-ACG-2-3 HGNC:34660 +HGNC:34997 TRR-ACG2-4 tRNA-Arg (anticodon ACG) 2-4 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Arg-ACG-2-4 TRNAR29 "transfer RNA arginine 29 (anticodon ACG)|transfer RNA-Arg (ACG) 2-4" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189428 HG983600 tRNA-Arg-ACG-2-4 HGNC:34997 +HGNC:34933 TRR-CCG1-1 tRNA-Arg (anticodon CCG) 1-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Arg-CCG-1-1 "TRNAR24|TRR-CCG1-2" "transfer RNA arginine 24 (anticodon CCG)|transfer RNA-Arg (CCG) 1-2|transfer RNA-Arg (CCG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-08 100189365 HG983602 tRNA-Arg-CCG-1-1 HGNC:34933 +HGNC:34644 TRR-CCG1-2 tRNA-Arg (anticodon CCG) 1-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Arg-CCG-1-2 "TRNAR9|TRR-CCG1-3" "transfer RNA arginine 9 (anticodon CCG)|transfer RNA-Arg (CCG) 1-3|transfer RNA-Arg (CCG) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-08 100189084 HG983603 tRNA-Arg-CCG-1-2 HGNC:34644 +HGNC:34735 TRR-CCG1-3 tRNA-Arg (anticodon CCG) 1-3 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Arg-CCG-1-3 "TRNAR19|TRR-CCG1-1" "transfer RNA arginine 19 (anticodon CCG)|transfer RNA-Arg (CCG) 1-1|transfer RNA-Arg (CCG) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-08 100189173 HG983601 tRNA-Arg-CCG-1-3 HGNC:34735 +HGNC:12346 TRR-CCG2-1 tRNA-Arg (anticodon CCG) 2-1 non-coding RNA RNA, transfer Approved 17q24.2 17q24.2 tRNA-Arg-CCG-2-1 "TRR4|TRNAR4" "tRNA arginine (CCG) 4|transfer RNA arginine 4 (anticodon CCG)|transfer RNA-Arg (CCG) 2-1" Cytoplasmic transfer RNAs 842 1997-04-16 2014-06-19 2019-05-01 2019-05-01 7233 HG983604 tRNA-Arg-CCG-2-1 HGNC:12346 +HGNC:34638 TRR-CCT1-1 tRNA-Arg (anticodon CCT) 1-1 non-coding RNA RNA, transfer Approved 17q25.1 17q25.1 tRNA-Arg-CCT-1-1 TRNAR8 "transfer RNA arginine 8 (anticodon CCU)|transfer RNA-Arg (CCT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189078 HG983605 tRNA-Arg-CCT-1-1 HGNC:34638 +HGNC:34744 TRR-CCT2-1 tRNA-Arg (anticodon CCT) 2-1 non-coding RNA RNA, transfer Approved 17q25.1 17q25.1 tRNA-Arg-CCT-2-1 TRNAR20 "transfer RNA arginine 20 (anticodon CCU)|transfer RNA-Arg (CCT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189181 HG983606 tRNA-Arg-CCT-2-1 HGNC:34744 +HGNC:34730 TRR-CCT3-1 tRNA-Arg (anticodon CCT) 3-1 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Arg-CCT-3-1 TRNAR18 "transfer RNA arginine 18 (anticodon CCU)|transfer RNA-Arg (CCT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189168 HG983607 tRNA-Arg-CCT-3-1 HGNC:34730 +HGNC:34975 TRR-CCT4-1 tRNA-Arg (anticodon CCT) 4-1 non-coding RNA RNA, transfer Approved 7q34 07q34 tRNA-Arg-CCT-4-1 TRNAR27 "transfer RNA arginine 27 (anticodon CCU)|transfer RNA-Arg (CCT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189406 HG983608 tRNA-Arg-CCT-4-1 HGNC:34975 +HGNC:34833 TRR-CCT5-1 tRNA-Arg (anticodon CCT) 5-1 non-coding RNA RNA, transfer Approved 16p13.3 16p13.3 tRNA-Arg-CCT-5-1 TRNAR23 "transfer RNA arginine 23 (anticodon CCU)|transfer RNA-Arg (CCT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189270 HG983609 tRNA-Arg-CCT-5-1 HGNC:34833 +HGNC:35096 TRR-CCT6-1 tRNA-Arg (anticodon CCT) 6-1 pseudogene pseudogene Approved 1q21.1 01q21.1 tRNA-Arg-CCT-6-1 TRNAR33P "transfer RNA arginine 33 (anticodon CCU) pseudogene|transfer RNA-Arg (CCT) 6-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 HG983610 tRNA-Arg-CCT-6-1 +HGNC:35019 TRR-CCT6-2 tRNA-Arg (anticodon CCT) 6-2 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Arg-CCT-6-2 TRNAR31P "transfer RNA arginine 31 (anticodon CCU) pseudogene|transfer RNA-Arg (CCT) 6-2" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189449 HG983611 NG_008505 tRNA-Arg-CCT-6-2 HGNC:35019 +HGNC:35013 TRR-CCT7-1 tRNA-Arg (anticodon CCT) 7-1 pseudogene pseudogene Approved 1q21.2 01q21.2 tRNA-Arg-CCT-7-1 TRNAR30P "transfer RNA arginine 30 (anticodon CCU) pseudogene|transfer RNA-Arg (CCT) 7-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189443 HG983612 NG_008499 tRNA-Arg-CCT-7-1 HGNC:35013 +HGNC:35077 TRR-CCT8-1 tRNA-Arg (anticodon CCT) 8-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Arg-CCT-8-1 TRNAR32P "transfer RNA arginine 32 (anticodon CCU) pseudogene|transfer RNA-Arg (CCT) 8-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189502 HG983613 NG_008560 tRNA-Arg-CCT-8-1 HGNC:35077 +HGNC:35114 TRR-CCT9-1 tRNA-Arg (anticodon CCT) 9-1 pseudogene pseudogene Approved 11q13.1 11q13.1 tRNA-Arg-CCT-9-1 TRNAR34P "transfer RNA arginine 34 (anticodon CCU) pseudogene|transfer RNA-Arg (CCT) 9-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-12-06 100189537 HG983614 NG_029771 tRNA-Arg-CCT-9-1 HGNC:35114 +HGNC:34827 TRR-TCG1-1 tRNA-Arg (anticodon TCG) 1-1 non-coding RNA RNA, transfer Approved 15q26.1 15q26.1 tRNA-Arg-TCG-1-1 TRNAR22 "transfer RNA arginine 22 (anticodon UCG)|transfer RNA-Arg (TCG) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189264 HG983615 tRNA-Arg-TCG-1-1 HGNC:34827 +HGNC:34979 TRR-TCG2-1 tRNA-Arg (anticodon TCG) 2-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Arg-TCG-2-1 TRNAR28 "transfer RNA arginine 28 (anticodon UCG)|transfer RNA-Arg (TCG) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189410 HG983616 tRNA-Arg-TCG-2-1 HGNC:34979 +HGNC:34939 TRR-TCG3-1 tRNA-Arg (anticodon TCG) 3-1 non-coding RNA RNA, transfer Approved 17q25.1 17q25.1 tRNA-Arg-TCG-3-1 TRNAR25 "transfer RNA arginine 25 (anticodon UCG)|transfer RNA-Arg (TCG) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189371 HG983617 tRNA-Arg-TCG-3-1 HGNC:34939 +HGNC:12345 TRR-TCG4-1 tRNA-Arg (anticodon TCG) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Arg-TCG-4-1 "TRR3|TRNAR3" "tRNA arginine (UCG) 3|tRNA arginine 3 (anticodon UCG)|transfer RNA arginine 3 (anticodon UCG)|transfer RNA-Arg (TCG) 4-1" Cytoplasmic transfer RNAs 842 1995-05-08 2014-06-19 2019-05-01 2019-05-01 7232 HG983618 8661117 601432 tRNA-Arg-TCG-4-1 HGNC:12345 +HGNC:34593 TRR-TCG5-1 tRNA-Arg (anticodon TCG) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Arg-TCG-5-1 TRNAR7 "transfer RNA arginine 7 (anticodon UCG)|transfer RNA-Arg (TCG) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189034 HG983619 tRNA-Arg-TCG-5-1 HGNC:34593 +HGNC:34584 TRR-TCG6-1 tRNA-Arg (anticodon TCG) 6-1 non-coding RNA RNA, transfer Approved 9q31.3 09q31.3 tRNA-Arg-TCG-6-1 TRNAR6 "transfer RNA arginine 6 (anticodon UCG)|transfer RNA-Arg (TCG) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189025 HG983620 tRNA-Arg-TCG-6-1 HGNC:34584 +HGNC:34695 TRR-TCT1-1 tRNA-Arg (anticodon TCT) 1-1 non-coding RNA RNA, transfer Approved 1p22.1 01p22.1 tRNA-Arg-TCT-1-1 TRNAR15 "transfer RNA arginine 15 (anticodon UCU)|transfer RNA-Arg (TCT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189133 HG983621 tRNA-Arg-TCT-1-1 HGNC:34695 +HGNC:12343 TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Arg-TCT-2-1 "TRR1|TRNAR1" "tRNA arginine (UCU) 1|tRNA arginine 1 (anticodon UCU)|transfer RNA arginine 1 (anticodon UCU)|transfer RNA-Arg (TCT) 2-1" Cytoplasmic transfer RNAs 842 1991-08-18 2014-06-19 2019-05-01 2019-05-01 7230 HG983622 2066114 610406 tRNA-Arg-TCT-2-1 HGNC:12343 +HGNC:34670 TRR-TCT3-1 tRNA-Arg (anticodon TCT) 3-1 non-coding RNA RNA, transfer Approved 9q34.11 09q34.11 tRNA-Arg-TCT-3-1 "TRNAR12|TRR-TCT3-2" "transfer RNA arginine 12 (anticodon UCU)|transfer RNA-Arg (TCT) 3-2|transfer RNA-Arg (TCT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189109 HG983624 tRNA-Arg-TCT-3-1 HGNC:34670 +HGNC:34677 TRR-TCT3-2 tRNA-Arg (anticodon TCT) 3-2 non-coding RNA RNA, transfer Approved 11q12.1 11q12.1 tRNA-Arg-TCT-3-2 "TRNAR14|TRR-TCT3-1" "transfer RNA arginine 14 (anticodon UCU)|transfer RNA-Arg (TCT) 3-1|transfer RNA-Arg (TCT) 3-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189115 HG983623 tRNA-Arg-TCT-3-2 HGNC:34677 +HGNC:34728 TRR-TCT4-1 tRNA-Arg (anticodon TCT) 4-1 non-coding RNA RNA, transfer Approved 1q23.2 01q23.2 tRNA-Arg-TCT-4-1 TRNAR16 "transfer RNA arginine 16 (anticodon UCU)|transfer RNA-Arg (TCT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189166 HG983625 tRNA-Arg-TCT-4-1 HGNC:34728 +HGNC:34571 TRR-TCT5-1 tRNA-Arg (anticodon TCT) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Arg-TCT-5-1 TRNAR5 "transfer RNA arginine 5 (anticodon UCU)|transfer RNA-Arg (TCT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189012 HG983626 tRNA-Arg-TCT-5-1 HGNC:34571 +HGNC:12347 TRRAP transformation/transcription domain associated protein protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "TR-AP|PAF400|Tra1" transformation/transcription domain-associated protein "SAGA complex|Armadillo like helical domain containing|Tip60/Nua4 histone acetyltransferase complex subunits|MicroRNA protein coding host genes" "1059|1492|1634|1691" 1998-10-06 2016-03-15 2021-05-26 8295 ENSG00000196367 OTTHUMG00000150403 uc011kis.2 AF076974 NM_003496 "CCDS59066|CCDS5659" Q9Y4A5 "9708738|9885574" MGI:2153272 RGD:1305446 TRRAP 603015 objectId:2256 HGNC:12347 "ENST00000456197.2|NM_001375524.1" HGNC:12347 +HGNC:35102 TRS-ACT1-1 tRNA-Ser (anticodon ACT) 1-1 pseudogene pseudogene Approved 6p22.1 06p22.1 tRNA-Ser-ACT-1-1 TRNAS32P "transfer RNA serine 32 (anticodon ACU) pseudogene|transfer RNA-Ser (ACT) 1-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189526 HG984007 NG_008584 tRNA-Ser-ACT-1-1 HGNC:35102 +HGNC:34920 TRS-AGA1-1 tRNA-Ser (anticodon AGA) 1-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-AGA-1-1 TRNAS24 "transfer RNA serine 24 (anticodon AGA)|transfer RNA-Ser (AGA) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189352 HG984008 tRNA-Ser-AGA-1-1 HGNC:34920 +HGNC:34950 TRS-AGA2-1 tRNA-Ser (anticodon AGA) 2-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ser-AGA-2-1 "TRNAS25|TRS-AGA2-2" "transfer RNA serine 25 (anticodon AGA)|transfer RNA-Ser (AGA) 2-2|transfer RNA-Ser (AGA) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189382 HG984010 tRNA-Ser-AGA-2-1 HGNC:34950 +HGNC:34637 TRS-AGA2-2 tRNA-Ser (anticodon AGA) 2-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-AGA-2-2 "TRNAS10|TRS-AGA2-3" "transfer RNA serine 10 (anticodon AGA)|transfer RNA-Ser (AGA) 2-3|transfer RNA-Ser (AGA) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189077 HG984011 tRNA-Ser-AGA-2-2 HGNC:34637 +HGNC:16293 TRS-AGA2-3 tRNA-Ser (anticodon AGA) 2-3 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 "TRNS|tRNA-Ser-AGA-2-3" "TRS2|TRNAS2|TRS-AGA2-4" "tRNA serine (AGA) 2|tRNA serine 2 (anticodon AGA)|transfer RNA serine 2 (anticodon AGA)|transfer RNA-Ser (AGA) 2-4|transfer RNA-Ser (AGA) 2-3" Cytoplasmic transfer RNAs 842 2001-07-20 2016-02-15 2019-05-01 2019-05-01 23437 HG984012 3697066 189910 tRNA-Ser-AGA-2-3 HGNC:16293 +HGNC:34810 TRS-AGA2-4 tRNA-Ser (anticodon AGA) 2-4 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-AGA-2-4 "TRNAS19|TRS-AGA2-5" "transfer RNA serine 19 (anticodon AGA)|transfer RNA-Ser (AGA) 2-5|transfer RNA-Ser (AGA) 2-4" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189247 HG984013 tRNA-Ser-AGA-2-4 HGNC:34810 +HGNC:34811 TRS-AGA2-5 tRNA-Ser (anticodon AGA) 2-5 non-coding RNA RNA, transfer Approved 8q22.1 08q22.1 tRNA-Ser-AGA-2-5 "TRNAS20|TRS-AGA2-6" "transfer RNA serine 20 (anticodon AGA)|transfer RNA-Ser (AGA) 2-6|transfer RNA-Ser (AGA) 2-5" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189248 HG984014 tRNA-Ser-AGA-2-5 HGNC:34811 +HGNC:34747 TRS-AGA2-6 tRNA-Ser (anticodon AGA) 2-6 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Ser-AGA-2-6 "TRNAS14|TRS-AGA2-1" "transfer RNA serine 14 (anticodon AGA)|transfer RNA-Ser (AGA) 2-1|transfer RNA-Ser (AGA) 2-6" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189184 HG984009 tRNA-Ser-AGA-2-6 HGNC:34747 +HGNC:33201 TRS-AGA3-1 tRNA-Ser (anticodon AGA) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-AGA-3-1 "TRS4|TRNAS4" "tRNA serine 4 (anticodon AGA)|transfer RNA serine 4 (anticodon AGA)|transfer RNA-Ser (AGA) 3-1" Cytoplasmic transfer RNAs 842 2006-12-14 2014-06-19 2019-05-01 2019-05-01 790951 HG984015 3340558 tRNA-Ser-AGA-3-1 HGNC:33201 +HGNC:34629 TRS-AGA4-1 tRNA-Ser (anticodon AGA) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-AGA-4-1 TRNAS9 "transfer RNA serine 9 (anticodon AGA)|transfer RNA-Ser (AGA) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189070 HG984016 tRNA-Ser-AGA-4-1 HGNC:34629 +HGNC:35001 TRS-AGA5-1 tRNA-Ser (AGA) 5-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Ser-AGA-5-1 TRNAS28 "transfer RNA serine 28 (anticodon AGA)|transfer RNA-Ser (AGA) 5-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189432 HG984017 tRNA-Ser-AGA-5-1 HGNC:35001 +HGNC:34989 TRS-AGA6-1 tRNA-Ser (AGA) 6-1 non-coding RNA RNA, transfer Approved 11q22.3 11q22.3 tRNA-Ser-AGA-6-1 TRNAS26 "transfer RNA serine 26 (anticodon AGA)|transfer RNA-Ser (AGA) 6-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189420 HG984018 tRNA-Ser-AGA-6-1 +HGNC:35060 TRS-AGA7-1 tRNA-Ser (anticodon AGA) 7-1 non-coding RNA RNA, transfer Approved 20q11.21 20q11.21 tRNA-Ser-AGA-7-1 TRNAS29P "transfer RNA serine 29 (anticodon AGA) pseudogene|transfer RNA-Ser (AGA) 7-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189487 HG984019 NG_008545 tRNA-Ser-AGA-7-1 HGNC:35060 +HGNC:34596 TRS-CGA1-1 tRNA-Ser (anticodon CGA) 1-1 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Ser-CGA-1-1 TRNAS6 "transfer RNA serine 6 (anticodon CGA)|transfer RNA-Ser (CGA) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189037 HG984020 tRNA-Ser-CGA-1-1 HGNC:34596 +HGNC:34600 TRS-CGA2-1 tRNA-Ser (anticodon CGA) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-CGA-2-1 TRNAS7 "transfer RNA serine 7 (anticodon CGA)|transfer RNA-Ser (CGA) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189041 HG984021 tRNA-Ser-CGA-2-1 HGNC:34600 +HGNC:34768 TRS-CGA3-1 tRNA-Ser (anticodon CGA) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-CGA-3-1 TRNAS15 "transfer RNA serine 15 (anticodon CGA)|transfer RNA-Ser (CGA) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189205 HG984022 tRNA-Ser-CGA-3-1 HGNC:34768 +HGNC:34714 TRS-CGA4-1 tRNA-Ser (anticodon CGA) 4-1 non-coding RNA RNA, transfer Approved 12q13.2 12q13.2 tRNA-Ser-CGA-4-1 TRNAS11 "transfer RNA serine 11 (anticodon CGA)|transfer RNA-Ser (CGA) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189152 HG984023 tRNA-Ser-CGA-4-1 HGNC:34714 +HGNC:34719 TRS-GCT1-1 tRNA-Ser (anticodon GCT) 1-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ser-GCT-1-1 TRNAS12 "transfer RNA serine 12 (anticodon GCU)|transfer RNA-Ser (GCT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189157 HG984024 tRNA-Ser-GCT-1-1 HGNC:34719 +HGNC:34559 TRS-GCT2-1 tRNA-Ser (anticodon GCT) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-GCT-2-1 TRNAS5 "transfer RNA serine 5 (anticodon GCU)|transfer RNA-Ser (GCT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189002 HG984025 tRNA-Ser-GCT-2-1 HGNC:34559 +HGNC:34851 TRS-GCT3-1 tRNA-Ser (anticodon GCT) 3-1 non-coding RNA RNA, transfer Approved 11q13.2 11q13.2 tRNA-Ser-GCT-3-1 TRNAS22 "transfer RNA serine 22 (anticodon GCU)|transfer RNA-Ser (GCT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189285 HG984026 tRNA-Ser-GCT-3-1 HGNC:34851 +HGNC:34788 TRS-GCT4-1 tRNA-Ser (anticodon GCT) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-GCT-4-1 "TRNAS17|TRS-GCT4-3" "transfer RNA serine 17 (anticodon GCU)|transfer RNA-Ser (GCT) 4-3|transfer RNA-Ser (GCT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189225 HG984029 tRNA-Ser-GCT-4-1 HGNC:34788 +HGNC:34792 TRS-GCT4-2 tRNA-Ser (anticodon GCT) 4-2 non-coding RNA RNA, transfer Approved 15q15.1 15q15.1 tRNA-Ser-GCT-4-2 "TRNAS18|TRS-GCT4-1" "transfer RNA serine 18 (anticodon GCU)|transfer RNA-Ser (GCT) 4-1|transfer RNA-Ser (GCT) 4-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189229 HG984027 tRNA-Ser-GCT-4-2 HGNC:34792 +HGNC:34898 TRS-GCT4-3 tRNA-Ser (anticodon GCT) 4-3 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Ser-GCT-4-3 "TRNAS23|TRS-GCT4-2" "transfer RNA serine 23 (anticodon GCU)|transfer RNA-Ser (GCT) 4-2|transfer RNA-Ser (GCT) 4-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189331 HG984028 tRNA-Ser-GCT-4-3 HGNC:34898 +HGNC:34721 TRS-GCT5-1 tRNA-Ser (anticodon GCT) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-GCT-5-1 TRNAS13 "transfer RNA serine 13 (anticodon GCU)|transfer RNA-Ser (GCT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189159 HG984030 tRNA-Ser-GCT-5-1 HGNC:34721 +HGNC:34781 TRS-GCT6-1 tRNA-Ser (anticodon GCT) 6-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ser-GCT-6-1 TRNAS16 "transfer RNA serine 16 (anticodon GCU)|transfer RNA-Ser (GCT) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189218 HG984031 tRNA-Ser-GCT-6-1 HGNC:34781 +HGNC:34845 TRS-TGA1-1 tRNA-Ser (anticodon TGA) 1-1 non-coding RNA RNA, transfer Approved 10q21.3 10q21.3 tRNA-Ser-TGA-1-1 TRNAS21 "transfer RNA serine 21 (anticodon UGA)|transfer RNA-Ser (TGA) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189279 HG984032 tRNA-Ser-TGA-1-1 HGNC:34845 +HGNC:16292 TRS-TGA2-1 tRNA-Ser (anticodon TGA) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-TGA-2-1 "TRS1|TRNAS1" "tRNA serine (UGA) 1|tRNA serine 1 (anticodon UGA)|transfer RNA serine 1 (anticodon UGA)|transfer RNA-Ser (TGA) 2-1" Cytoplasmic transfer RNAs 842 2001-07-20 2014-06-19 2019-05-01 2019-05-01 94017 HG984033 3648680 606171 tRNA-Ser-TGA-2-1 HGNC:16292 +HGNC:34999 TRS-TGA3-1 tRNA-Ser (anticodon TGA) 3-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Ser-TGA-3-1 TRNAS27 "transfer RNA serine 27 (anticodon UGA)|transfer RNA-Ser (TGA) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189430 HG984034 tRNA-Ser-TGA-3-1 HGNC:34999 +HGNC:16294 TRS-TGA4-1 tRNA-Ser (anticodon TGA) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Ser-TGA-4-1 "TRS3|TRNAS3" "tRNA serine (UGA) 3|tRNA serine 3 (anticodon UGA)|transfer RNA serine 3 (anticodon UGA)|transfer RNA-Ser (TGA) 4-1" Cytoplasmic transfer RNAs 842 2001-07-20 2014-06-19 2019-05-01 2019-05-01 23540 HG984035 1549482 606172 tRNA-Ser-TGA-4-1 HGNC:16294 +HGNC:34995 TRSUP-CTA1-1 tRNA suppressor (anticodon CTA) 1-1 non-coding RNA RNA, transfer Approved 17 17 tRNA-Sup-CTA-1-1 TRNASUP3 "transfer RNA suppressor 3 (anticodon CUA)|transfer RNA suppressor (CTA) 1-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189426 HG984036 tRNA-suppressor-CTA +HGNC:35012 TRSUP-CTA2-1 tRNA suppressor (anticodon CTA) 2-1 non-coding RNA RNA, transfer Approved 3p25.1 03p25.1 tRNA-Sup-CTA-2-1 TRNASUP4P "transfer RNA suppressor 4 (anticodon CUA) pseudogene|transfer RNA suppressor (CTA) 2-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189442 HG984037 NG_008498 tRNA-suppressor-CTA HGNC:35012 +HGNC:35043 TRSUP-CTA3-1 tRNA suppressor (anticodon CTA) 3-1 non-coding RNA RNA, transfer Approved 14q24.3 14q24.3 tRNA-Sup-CTA-3-1 TRNASUP6P "transfer RNA suppressor 6 (anticodon CUA) pseudogene|transfer RNA suppressor (CTA) 3-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189470 HG984038 NG_052991 tRNA-suppressor-CTA HGNC:35043 +HGNC:34640 TRSUP-TTA1-1 tRNA suppressor (TTA) 1-1 non-coding RNA RNA, transfer Approved 17q23.2 17q23.2 tRNA-Sup-TTA-1-1 TRNASUP1 "transfer RNA suppressor 1 (anticodon UUA)|transfer RNA suppressor (TTA) 1-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189080 HG984039 tRNA-suppressor-TTA HGNC:34640 +HGNC:34897 TRSUP-TTA2-1 tRNA suppressor (anticodon TTA) 2-1 non-coding RNA RNA, transfer Approved 21 21 tRNA-Sup-TTA-2-1 TRNASUP2 "transfer RNA suppressor 2 (anticodon UUA)|transfer RNA suppressor (TTA) 2-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189330 HG984040 tRNA-suppressor-TTA +HGNC:35024 TRSUP-TTA3-1 tRNA suppressor (anticodon TTA) 3-1 non-coding RNA RNA, transfer Approved 4p16.1 04p16.1 tRNA-Sup-TTA-3-1 TRNASUP5P "transfer RNA suppressor 5 (anticodon UUA) pseudogene|transfer RNA suppressor (TTA) 3-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189453 HG984041 NG_008509 tRNA-suppressor-TTA HGNC:35024 +HGNC:34750 TRT-AGT1-1 tRNA-Thr (anticodon AGT) 1-1 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Thr-AGT-1-1 TRNAT8 "transfer RNA threonine 8 (anticodon AGU)|transfer RNA-Thr (AGT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189187 HG984042 tRNA-Thr-AGT-1-1 HGNC:34750 +HGNC:34785 TRT-AGT1-2 tRNA-Thr (anticodon AGT) 1-2 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Thr-AGT-1-2 TRNAT9 "transfer RNA threonine 9 (anticodon AGU)|transfer RNA-Thr (AGT) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189222 HG984043 tRNA-Thr-AGT-1-2 HGNC:34785 +HGNC:34563 TRT-AGT1-3 tRNA-Thr (anticodon AGT) 1-3 non-coding RNA RNA, transfer Approved 19q13.11 19q13.11 tRNA-Thr-AGT-1-3 TRNAT4 "transfer RNA threonine 4 (anticodon AGU)|transfer RNA-Thr (AGT) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189006 HG984044 tRNA-Thr-AGT-1-3 HGNC:34563 +HGNC:34886 TRT-AGT2-1 tRNA-Thr (anticodon AGT) 2-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Thr-AGT-2-1 TRNAT14 "transfer RNA threonine 14 (anticodon AGU)|transfer RNA-Thr (AGT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189319 HG984045 tRNA-Thr-AGT-2-1 HGNC:34886 +HGNC:34908 TRT-AGT2-2 tRNA-Thr (anticodon AGT) 2-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Thr-AGT-2-2 TRNAT15 "transfer RNA threonine 15 (anticodon AGU)|transfer RNA-Thr (AGT) 2-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189340 HG984046 615309 tRNA-Thr-AGT-2-2 HGNC:34908 +HGNC:35003 TRT-AGT3-1 trRNA-Thr (anticodon AGT) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Thr-AGT-3-1 TRNAT21 "transfer RNA threonine 21 (anticodon AGU)|transfer RNA-Thr (AGT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189433 HG984047 tRNA-Thr-AGT-3-1 HGNC:35003 +HGNC:34942 TRT-AGT4-1 tRNA-Thr (anticodon AGT) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Thr-AGT-4-1 "TRNAT18|TRT-AGT5-1" "transfer RNA threonine 18 (anticodon AGU)|transfer RNA-Thr (AGT) 5-1|transfer RNA-Thr (AGT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189374 HG984049 tRNA-Thr-AGT-4-1 HGNC:34942 +HGNC:35008 TRT-AGT5-1 tRNA-Thr (anticodon AGT) 5-1 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Thr-AGT-5-1 "TRNAT22|TRT-AGT4-1" "transfer RNA threonine 22 (anticodon AGU)|transfer RNA-Thr (AGT) 4-1|transfer RNA-Thr (AGT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189438 HG984048 tRNA-Thr-AGT-5-1 HGNC:35008 +HGNC:34705 TRT-AGT6-1 tRNA-Thr (anticodon AGT) 6-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Thr-AGT-6-1 TRNAT7 "transfer RNA threonine 7 (anticodon AGU)|transfer RNA-Thr (AGT) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189143 HG984050 tRNA-Thr-AGT-6-1 HGNC:34705 +HGNC:12352 TRT-AGT7-1 tRNA-Thr (AGT) 7-1 non-coding RNA RNA, transfer Approved 17q24.1 17q24.1 tRNA-Thr-AGT-7-1 "TRT3|TRNAT3" "tRNA threonine (AGU) 3|transfer RNA threonine 3 (anticodon AGU)|transfer RNA-Thr (AGT) 7-1" Low confidence cytoplasmic transfer RNAs 1877 1993-05-24 2014-06-19 2019-03-28 2019-03-28 7238 HG984051 1457046 tRNA-Thr-AGT-7-1 +HGNC:34594 TRT-CGT1-1 tRNA-Thr (anticodon CGT) 1-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Thr-CGT-1-1 TRNAT5 "transfer RNA threonine 5 (anticodon CGU)|transfer RNA-Thr (CGT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189035 HG984052 tRNA-Thr-CGT-1-1 HGNC:34594 +HGNC:34646 TRT-CGT2-1 tRNA-Thr (anticodon CGT) 2-1 non-coding RNA RNA, transfer Approved 16p13.12 16p13.12 tRNA-Thr-CGT-2-1 TRNAT6 "transfer RNA threonine 6 (anticodon CGU)|transfer RNA-Thr (CGT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189086 HG984053 tRNA-Thr-CGT-2-1 HGNC:34646 +HGNC:34928 TRT-CGT3-1 tRNA-Thr (anticodon CGT) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Thr-CGT-3-1 TRNAT17 "transfer RNA threonine 17 (anticodon CGU)|transfer RNA-Thr (CGT) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189360 HG984054 tRNA-Thr-CGT-3-1 HGNC:34928 +HGNC:34808 TRT-CGT4-1 tRNA-Thr (anticodon CGT) 4-1 non-coding RNA RNA, transfer Approved 17q11.2 17q11.2 tRNA-Thr-CGT-4-1 TRNAT10 "transfer RNA threonine 10 (anticodon CGU)|transfer RNA-Thr (CGT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189245 HG984055 tRNA-Thr-CGT-4-1 HGNC:34808 +HGNC:34866 TRT-CGT5-1 tRNA-Thr (anticodon CGT) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Thr-CGT-5-1 TRNAT13 "transfer RNA threonine 13 (anticodon CGU)|transfer RNA-Thr (CGT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189300 HG984056 tRNA-Thr-CGT-5-1 HGNC:34866 +HGNC:34821 TRT-CGT6-1 tRNA-Thr (anticodon CGT) 6-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Thr-CGT-6-1 TRNAT11 "transfer RNA threonine 11 (anticodon CGU)|transfer RNA-Thr (CGT) 6-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189258 HG984057 tRNA-Thr-CGT-6-1 +HGNC:34912 TRT-TGT1-1 tRNA-Thr (anticodon TGT) 1-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Thr-TGT-1-1 TRNAT16 "transfer RNA threonine 16 (anticodon UGU)|transfer RNA-Thr (TGT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189344 HG984058 tRNA-Thr-TGT-1-1 HGNC:34912 +HGNC:34946 TRT-TGT2-1 tRNA-Thr (anticodon TGT) 2-1 non-coding RNA RNA, transfer Approved 1q41 01q41 tRNA-Thr-TGT-2-1 TRNAT19 "transfer RNA threonine 19 (anticodon UGU)|transfer RNA-Thr (TGT) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189378 HG984059 tRNA-Thr-TGT-2-1 HGNC:34946 +HGNC:12351 TRT-TGT3-1 tRNA-Thr (anticodon TGT) 3-1 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Thr-TGT-3-1 "TRT2|TRNAT2" "tRNA threonine (UGU) 2|transfer RNA threonine 2 (anticodon UGU)|transfer RNA-Thr (TGT) 3-1" Cytoplasmic transfer RNAs 842 1990-04-27 2014-06-19 2019-05-01 2019-05-01 7237 HG984060 189933 tRNA-Thr-TGT-3-1 HGNC:12351 +HGNC:34988 TRT-TGT4-1 tRNA-Thr (anticodon TGT) 4-1 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Thr-TGT-4-1 TRNAT20 "transfer RNA threonine 20 (anticodon UGU)|transfer RNA-Thr (TGT) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189419 HG984061 tRNA-Thr-TGT-4-1 HGNC:34988 +HGNC:34826 TRT-TGT5-1 tRNA-Thr (anticodon TGT) 5-1 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Thr-TGT-5-1 TRNAT12 "transfer RNA threonine 12 (anticodon UGU)|transfer RNA-Thr (TGT) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189263 HG984062 tRNA-Thr-TGT-5-1 HGNC:34826 +HGNC:12350 TRT-TGT6-1 tRNA-Thr (anticodon TGT) 6-1 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Thr-TGT-6-1 "TRT1|TRNAT1" "tRNA threonine (UGU) 1|tRNA threonine 1 (anticodon UGU)|transfer RNA threonine 1 (anticodon UGU)|transfer RNA-Thr (TGT) 6-1" Cytoplasmic transfer RNAs 842 1990-02-24 2014-06-19 2019-05-01 2019-05-01 7236 HG984063 "2613239|2676726" 189913 tRNA-Thr-TGT-6-1 HGNC:12350 +HGNC:12348 TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 non-coding RNA RNA, transfer Approved 19q13.2-q13.3 19q13.2-q13.3 "tRNA(Sec)|tRNA-SeC-TCA-1-1" "TRSP|TRNAU1" "tRNA phosphoserine (opal suppressor)|transfer RNA selenocysteine/phosphoserine (opal suppressor)|transfer RNA selenocysteine 1 (anticodon UCA)|transfer RNA-SeC (TCA) 1-1" Cytoplasmic transfer RNAs 842 1986-01-01 2014-06-19 2019-05-01 2019-05-01 7234 HG984004 1395717 165060 tRNA-SeC-TCA-1-1 HGNC:12348 +HGNC:12349 TRU-TCA2-1 tRNA-SeC (anticodon TCA) 2-1 non-coding RNA RNA, transfer Approved 22q11 22q11 "TRSP2|tRNA-SeC-TCA-2-1" transfer RNA selenocysteine/phosphoserine (opal suppressor) 2 "TRSPP1|TRNAU2" "transfer RNA selenocysteine/phosphoserine (opal suppressor) pseudogene 1|transfer RNA selenocysteine 2 (anticodon UCA)|transfer RNA-SeC (TCA) 2-1" Low confidence cytoplasmic transfer RNAs 1877 2001-06-22 2014-06-19 2019-05-01 2019-05-01 7235 HG984005 NG_000872 tRNA-SeC-TCA-2-1 HGNC:12349 +HGNC:34525 TRU-TCA3-1 tRNA-SeC (TCA) 3-1 non-coding RNA RNA, transfer Approved 17q21.1 17q21.1 tRNA-SeC-TCA-3-1 TRNAU3 "transfer RNA selenocysteine 3 (anticodon UCA)|transfer RNA-SeC (TCA) 3-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-19 2014-06-19 2019-03-28 2019-03-28 100188989 HG984006 tRNA-SeC-TCA-3-1 +HGNC:16060 TRUB1 TruB pseudouridine synthase family member 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 PUS4 probable tRNA pseudouridine synthase 1 "TruB pseudouridine (psi) synthase homolog 1 (E. coli)|TruB pseudouridine (psi) synthase family member 1" Pseudouridine synthases 1665 2001-11-16 2016-04-05 2016-04-05 142940 ENSG00000165832 OTTHUMG00000019094 uc001lcd.4 AF448144 NM_139169 CCDS7591 Q8WWH5 12736709 MGI:1919383 RGD:1308502 610726 HGNC:16060 "ENST00000298746.5|NM_139169.5" +HGNC:17170 TRUB2 TruB pseudouridine synthase family member 2 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 CLONE24922 "TruB pseudouridine (psi) synthase homolog 2 (E. coli)|TruB pseudouridine (psi) synthase family member 2" Pseudouridine synthases 1665 2001-11-16 2016-04-05 2016-04-05 26995 ENSG00000167112 OTTHUMG00000020741 uc004buq.2 AK001956 NM_015679 CCDS6897 O95900 12736709 MGI:2442186 RGD:1359394 610727 HGNC:17170 "ENST00000372890.6|NM_015679.3" +HGNC:50813 TRUND-NNN1-1 tRNA-undetermined (NNN) 1-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Und-NNN-1-1 transfer RNA-undetermined (NNN) 1-1 Low confidence cytoplasmic transfer RNAs 1877 2014-06-20 2019-03-28 2019-03-28 103482529 HG984090 NG_062450 18984615 HGNC:50813 +HGNC:50814 TRUND-NNN2-1 tRNA-undetermined (NNN) 2-1 non-coding RNA RNA, transfer Approved 8q22.2 08q22.2 tRNA-Und-NNN-2-1 transfer RNA-undetermined (NNN) 2-1 Low confidence cytoplasmic transfer RNAs 1877 2014-06-20 2019-03-28 2019-03-28 103482523 HG984091 NG_034179 18984615 HGNC:50814 +HGNC:50815 TRUND-NNN3-1 tRNA-undetermined (NNN) 3-1 pseudogene pseudogene Approved 1p36.23 01p36.23 tRNA-Und-NNN-3-1 transfer RNA-undetermined (NNN) 3-1 Cytoplasmic transfer RNA pseudogenes 1681 2014-06-20 2019-05-01 2019-05-01 103482527 HG984092 NG_034183 18984615 HGNC:50815 +HGNC:50816 TRUND-NNN4-1 tRNA-undetermined (NNN) 4-1 pseudogene pseudogene Approved 1p36.23 01p36.23 tRNA-Und-NNN-4-1 transfer RNA-undetermined (NNN) 4-1 Cytoplasmic transfer RNA pseudogenes 1681 2014-06-20 2019-05-01 2019-05-01 103482530 HG984093 NG_052834 18984615 HGNC:50816 +HGNC:50817 TRUND-NNN5-1 tRNA-undetermined (NNN) 5-1 non-coding RNA RNA, transfer Approved 17q24.2 17q24.2 tRNA-Und-NNN-5-1 transfer RNA-undetermined (NNN) 5-1 Low confidence cytoplasmic transfer RNAs 1877 2014-06-20 2019-05-01 2019-05-01 103482524 HG984094 NG_032814 18984615 HGNC:50817 +HGNC:50818 TRUND-NNN6-1 tRNA-undetermined (NNN) 6-1 pseudogene pseudogene Approved 17 17 transfer RNA-undetermined (NNN) 6-1 2014-06-20 2020-02-17 2020-02-17 103482525 HG984095 NG_011981 18984615 HGNC:50818 +HGNC:50819 TRUND-NNN7-1 tRNA-undetermined (NNN) 7-1 pseudogene pseudogene Approved 1 01 transfer RNA-undetermined (NNN) 7-1 2014-06-20 2020-02-17 2020-02-17 103482531 HG984096 NG_034187 18984615 HGNC:50819 +HGNC:50820 TRUND-NNN8-1 tRNA-undetermined (NNN) 8-1 pseudogene pseudogene Approved 1 01 transfer RNA-undetermined (NNN) 8-1 2014-06-20 2020-02-17 2020-02-17 103482528 HG984097 NG_034184 18984615 HGNC:50820 +HGNC:50821 TRUND-NNN9-1 tRNA-undetermined (NNN) 9-1 pseudogene pseudogene Approved 2 02 transfer RNA-undetermined (NNN) 9-1 2014-06-20 2020-02-17 2020-02-17 103482526 HG984098 NG_034182 18984615 HGNC:50821 +HGNC:50822 TRUND-NNN10-1 tRNA-undetermined (NNN) 10-1 pseudogene pseudogene Approved 19 19 transfer RNA-undetermined (NNN) 10-1 2014-06-20 2020-02-17 2020-02-17 103482532 HG984099 NG_062451 18984615 HGNC:50822 +HGNC:34885 TRV-AAC1-1 tRNA-Val (anticodon AAC) 1-1 non-coding RNA RNA, transfer Approved 3q26.2 03q26.2 tRNA-Val-AAC-1-1 TRNAV24 "transfer RNA valine 24 (anticodon AAC)|transfer RNA-Val (AAC) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189318 HG984100 615310 tRNA-Val-AAC-1-1 HGNC:34885 +HGNC:34542 TRV-AAC1-2 tRNA-Val (anticodon AAC) 1-2 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Val-AAC-1-2 TRNAV5 "transfer RNA valine 5 (anticodon AAC)|transfer RNA-Val (AAC) 1-2" Cytoplasmic transfer RNAs 842 2008-08-27 2014-06-19 2019-05-01 2019-05-01 100188990 HG984101 tRNA-Val-AAC-1-2 HGNC:34542 +HGNC:12355 TRV-AAC1-3 tRNA-Val (anticodon AAC) 1-3 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Val-AAC-1-3 "TRV3|TRNAV3" "transfer RNA valine (IAC), isoacceptor 3|transfer RNA valine 3 (anticodon AAC)|transfer RNA-Val (AAC) 1-3" Cytoplasmic transfer RNAs 842 1993-08-04 2014-06-19 2019-05-01 2019-05-01 7241 HG984102 1457046 tRNA-Val-AAC-1-3 HGNC:12355 +HGNC:12353 TRV-AAC1-4 tRNA-Val (anticodon AAC) 1-4 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Val-AAC-1-4 "TRV|TRV1|TRNAV1" "tRNA valine 1|transfer RNA valine 1|transfer RNA valine 1 (anticodon AAC)|transfer RNA-Val (AAC) 1-4" Cytoplasmic transfer RNAs 842 1990-02-24 2014-06-19 2019-05-01 2019-05-01 7239 HG984103 2766931 189921 tRNA-Val-AAC-1-4 HGNC:12353 +HGNC:33246 TRV-AAC1-5 tRNA-Val (anticodon AAC) 1-5 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 "HtV1|tRNA-Val-AAC-1-5" "TRV7|TRNAV7" "transfer RNA valine 7 (anticodon RAC)|transfer RNA valine 7 (anticodon AAC)|transfer RNA-Val (AAC) 1-5" Cytoplasmic transfer RNAs 842 2007-01-11 2014-06-19 2019-05-01 2019-05-01 791230 HG984104 3023191 tRNA-Val-AAC-1-5 HGNC:33246 +HGNC:34543 TRV-AAC2-1 tRNA-Val (anticodon AAC) 2-1 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Val-AAC-2-1 TRNAV10 "transfer RNA valine 10 (anticodon AAC)|transfer RNA-Val (AAC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-27 2014-06-19 2019-05-01 2019-05-01 100188992 HG984105 tRNA-Val-AAC-2-1 HGNC:34543 +HGNC:33247 TRV-AAC3-1 tRNA-Val (anticodon AAC) 3-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 "HtV2|tRNA-Val-AAC-3-1" "TRV8|TRNAV8" "transfer RNA valine 8 (anticodon RAC)|transfer RNA valine 8 (anticodon AAC)|transfer RNA-Val (AAC) 3-1" Cytoplasmic transfer RNAs 842 2007-01-11 2014-06-19 2019-05-01 2019-05-01 791231 HG984106 3023191 tRNA-Val-AAC-3-1 HGNC:33247 +HGNC:34723 TRV-AAC4-1 tRNA-Val (anticodon AAC) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Val-AAC-4-1 TRNAV17 "transfer RNA valine 17 (anticodon AAC)|transfer RNA-Val (AAC) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189161 HG984107 615308 tRNA-Val-AAC-4-1 HGNC:34723 +HGNC:34573 TRV-AAC5-1 tRNA-Val (anticodon AAC) 5-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Val-AAC-5-1 TRNAV12 "transfer RNA valine 12 (anticodon AAC)|transfer RNA-Val (AAC) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189014 HG984108 615307 tRNA-Val-AAC-5-1 HGNC:34573 +HGNC:34740 TRV-AAC6-1 tRNA-Val (anticodon AAC) 6-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Val-AAC-6-1 TRNAV18 "transfer RNA valine 18 (anticodon AAC)|transfer RNA-Val (AAC) 6-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189178 HG984109 tRNA-Val-AAC-6-1 HGNC:34740 +HGNC:34973 TRV-AAC7-1 tRNA-Val (AAC) 7-1 non-coding RNA RNA, transfer Approved 1q25.2 01q25.2 tRNA-Val-AAC-7-1 TRNAV30 "transfer RNA valine 30 (anticodon AAC)|transfer RNA-Val (AAC) 7-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189404 HG984110 tRNA-Val-AAC-7-1 +HGNC:34941 TRV-CAC1-1 tRNA-Val (anticodon CAC) 1-1 non-coding RNA RNA, transfer Approved 1q23.3 01q23.3 tRNA-Val-CAC-1-1 TRNAV29 "transfer RNA valine 29 (anticodon CAC)|transfer RNA-Val (CAC) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189373 HG984111 tRNA-Val-CAC-1-1 HGNC:34941 +HGNC:12354 TRV-CAC1-2 tRNA-Val (anticodon CAC) 1-2 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Val-CAC-1-2 "TRV2|TRNAV2" "transfer RNA valine (CAC) 2|transfer RNA valine 2 (anticodon CAC)|transfer RNA-Val (CAC) 1-2" Cytoplasmic transfer RNAs 842 1993-08-04 2014-06-19 2019-05-01 2019-05-01 7240 HG984112 612995 tRNA-Val-CAC-1-2 HGNC:12354 +HGNC:33248 TRV-CAC1-3 tRNA-Val (anticodon CAC) 1-3 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 "HtV3|tRNA-Val-CAC-1-3" "TRV9|TRNAV9" "transfer RNA valine 9 (anticodon CAC)|transfer RNA-Val (CAC) 1-3" Cytoplasmic transfer RNAs 842 2007-01-11 2014-06-19 2019-05-01 2019-05-01 791232 HG984113 3023191 tRNA-Val-CAC-1-3 HGNC:33248 +HGNC:34541 TRV-CAC1-4 tRNA-Val (anticodon CAC) 1-4 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Val-CAC-1-4 TRNAV4 "transfer RNA valine 4 (anticodon CAC)|transfer RNA-Val (CAC) 1-4" Cytoplasmic transfer RNAs 842 2008-08-27 2014-06-19 2019-05-01 2019-05-01 100189541 HG984114 tRNA-Val-CAC-1-4 HGNC:34541 +HGNC:33245 TRV-CAC1-5 tRNA-Val (anticodon CAC) 1-5 non-coding RNA RNA, transfer Approved 5q35.3 05q35.3 tRNA-Val-CAC-1-5 "TRV6|TRNAV6" "transfer RNA valine 6 (anticodon CAC)|transfer RNA-Val (CAC) 1-5" Cytoplasmic transfer RNAs 842 2007-01-11 2014-06-19 2019-05-01 2019-05-01 100049614 HG984115 2766931 tRNA-Val-CAC-1-5 HGNC:33245 +HGNC:34790 TRV-CAC1-6 tRNA-Val (anticodon CAC) 1-6 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Val-CAC-1-6 TRNAV21 "transfer RNA valine 21 (anticodon CAC)|transfer RNA-Val (CAC) 1-6" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189227 HG984116 615306 tRNA-Val-CAC-1-6 HGNC:34790 +HGNC:54846 TRV-CAC1-7 tRNA-Val (anticodon CAC) 1-7 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Val-CAC-1-7 Cytoplasmic transfer RNAs 842 2020-02-13 2020-02-13 100189228 +HGNC:34931 TRV-CAC2-1 tRNA-Val (anticodon CAC) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Val-CAC-2-1 TRNAV27 "transfer RNA valine 27 (anticodon CAC)|transfer RNA-Val (CAC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189363 HG984117 tRNA-Val-CAC-2-1 HGNC:34931 +HGNC:34985 TRV-CAC3-1 tRNA-Val (anticodon CAC) 3-1 non-coding RNA RNA, transfer Approved 19p13.3 19p13.3 tRNA-Val-CAC-3-1 TRNAV32 "transfer RNA valine 32 (anticodon CAC)|transfer RNA-Val (CAC) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189416 HG984118 615304 tRNA-Val-CAC-3-1 HGNC:34985 +HGNC:34893 TRV-CAC4-1 tRNA-Val (anticodon CAC) 4-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Val-CAC-4-1 TRNAV25 "transfer RNA valine 25 (anticodon CAC)|transfer RNA-Val (CAC) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189326 HG984119 tRNA-Val-CAC-4-1 HGNC:34893 +HGNC:34791 TRV-CAC5-1 tRNA-Val (anticodon CAC) 5-1 non-coding RNA RNA, transfer Approved 1q21.2 01q21.2 tRNA-Val-CAC-5-1 TRNAV22 "transfer RNA valine 22 (anticodon CAC)|transfer RNA-Val (CAC) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2020-02-13 107985749 HG984120 tRNA-Val-CAC-5-1 HGNC:34791 +HGNC:34936 TRV-CAC6-1 tRNA-Val (anticodon CAC) 6-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Val-CAC-6-1 TRNAV28 "transfer RNA valine 28 (anticodon CAC)|transfer RNA-Val (CAC) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189368 HG984121 tRNA-Val-CAC-6-1 HGNC:34936 +HGNC:34662 TRV-CAC7-1 tRNA-Val (CAC) 7-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Val-CAC-7-1 TRNAV15 "transfer RNA valine 15 (anticodon CAC)|transfer RNA-Val (CAC) 7-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189101 HG984122 tRNA-Val-CAC-7-1 HGNC:34662 +HGNC:34704 TRV-CAC8-1 tRNA-Val (CAC) 8-1 non-coding RNA RNA, transfer Approved 1q21.1 01q21.1 tRNA-Val-CAC-8-1 TRNAV16 "transfer RNA valine 16 (anticodon CAC)|transfer RNA-Val (CAC) 8-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189142 HG984123 tRNA-Val-CAC-8-1 HGNC:34704 +HGNC:34759 TRV-CAC9-1 tRNA-Val (anticodon CAC) 9-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Val-CAC-9-1 TRNAV20 "transfer RNA valine 20 (anticodon CAC)|transfer RNA-Val (CAC) 9-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189196 HG984124 tRNA-Val-CAC-9-1 HGNC:34759 +HGNC:38576 TRV-CAC10-1 tRNA-Val (CAC) 10-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Val-CAC-10-1 TRNAV38 "transfer RNA valine 38 (anticodon CAC)|transfer RNA-Val (CAC) 10-1" Low confidence cytoplasmic transfer RNAs 1877 2010-06-23 2014-06-19 2019-03-28 2019-03-28 100873876 HG984125 tRNA-Val-CAC-10-1 +HGNC:38578 TRV-CAC11-1 tRNA-Val (anticodon CAC) 11-1 pseudogene pseudogene Approved 1p36.13 01p36.13 tRNA-Val-CAC-11-1 TRNAV39 "transfer RNA valine 39 (anticodon CAC)|transfer RNA-Val (CAC) 11-1" Cytoplasmic transfer RNA pseudogenes 1681 2010-06-23 2014-06-19 2019-05-01 2020-02-13 100189486 HG984126 NG_008544 tRNA-Val-CAC-11-1 +HGNC:35052 TRV-CAC11-2 tRNA-Val (anticodon CAC) 11-2 pseudogene pseudogene Approved 1p36.13 01p36.13 tRNA-Val-CAC-11-2 TRNAV34P "transfer RNA valine 34 (anticodon CAC) pseudogene|transfer RNA-Val (CAC) 11-2" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189479 HG984127 NG_008537 tRNA-Val-CAC-11-2 HGNC:35052 +HGNC:34632 TRV-CAC12-1 tRNA-Val (anticodon CAC) 12-1 non-coding RNA RNA, transfer Approved 6 06 tRNA-Val-CAC-12-1 TRNAV14 "transfer RNA valine 14 (anticodon CAC)|transfer RNA-Val (CAC) 12-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189073 HG984128 tRNA-Val-CAC-12-1 +HGNC:35075 TRV-CAC13-1 tRNA-Val (CAC) 13-1 non-coding RNA RNA, transfer Approved 1p36.13 01p36.13 tRNA-Val-CAC-13-1 TRNAV36P "transfer RNA valine 36 (anticodon CAC) pseudogene|transfer RNA-Val (CAC) 13-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189500 HG984129 NG_008558 tRNA-Val-CAC-13-1 HGNC:35075 +HGNC:35050 TRV-CAC14-1 tRNA-Val (anticodon CAC) 14-1 non-coding RNA RNA, transfer Approved 20q13.12 20q13.12 tRNA-Val-CAC-14-1 TRNAV33P "transfer RNA valine 33 (anticodon CAC) pseudogene|transfer RNA-Val (CAC) 14-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189477 HG984130 NG_008535 tRNA-Val-CAC-14-1 HGNC:35050 +HGNC:34544 TRV-TAC1-1 tRNA-Val (anticodon TAC) 1-1 non-coding RNA RNA, transfer Approved 11q12.1 11q12.1 tRNA-Val-TAC-1-1 TRNAV11 "transfer RNA valine 11 (anticodon UAC)|transfer RNA-Val (TAC) 1-1" Cytoplasmic transfer RNAs 842 2008-08-27 2014-06-19 2019-05-01 2019-05-01 100188993 HG984131 tRNA-Val-TAC-1-1 HGNC:34544 +HGNC:34754 TRV-TAC1-2 tRNA-Val (anticodon TAC) 1-2 non-coding RNA RNA, transfer Approved Xp22.13 Xp22.13 tRNA-Val-TAC-1-2 TRNAV19 "transfer RNA valine 19 (anticodon UAC)|transfer RNA-Val (TAC) 1-2" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189191 HG984132 tRNA-Val-TAC-1-2 HGNC:34754 +HGNC:34849 TRV-TAC2-1 tRNA-Val (anticodon TAC) 2-1 non-coding RNA RNA, transfer Approved 11q12.1 11q12.1 tRNA-Val-TAC-2-1 TRNAV23 "transfer RNA valine 23 (anticodon UAC)|transfer RNA-Val (TAC) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189283 HG984133 tRNA-Val-TAC-2-1 HGNC:34849 +HGNC:34910 TRV-TAC3-1 tRNA-Val (anticodon TAC) 3-1 non-coding RNA RNA, transfer Approved 10p15.1 10p15.1 tRNA-Val-TAC-3-1 TRNAV26 "transfer RNA valine 26 (anticodon UAC)|transfer RNA-Val (TAC) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189342 HG984134 tRNA-Val-TAC-3-1 HGNC:34910 +HGNC:34977 TRV-TAC4-1 tRNA-Val (anticodon TAC) 4-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-Val-TAC-4-1 TRNAV31 "transfer RNA valine 31 (anticodon UAC)|transfer RNA-Val (TAC) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189408 HG984135 tRNA-Val-TAC-4-1 HGNC:34977 +HGNC:34685 TRW-CCA1-1 tRNA-Trp (anticodon CCA) 1-1 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Trp-CCA-1-1 TRNAW4 "transfer RNA tryptophan 4 (anticodon CCA)|transfer RNA-Trp (CCA) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189123 HG984064 tRNA-Trp-CCA-1-1 HGNC:34685 +HGNC:34766 TRW-CCA2-1 tRNA-Trp (anticodon CCA) 2-1 non-coding RNA RNA, transfer Approved 17p11.2 17p11.2 tRNA-Trp-CCA-2-1 TRNAW7 "transfer RNA tryptophan 7 (anticodon CCA)|transfer RNA-Trp (CCA) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189203 HG984065 tRNA-Trp-CCA-2-1 HGNC:34766 +HGNC:35006 TRW-CCA3-1 tRNA-Trp (anticodon CCA) 3-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Trp-CCA-3-1 "TRNAW9|TRW-CCA3-2" "transfer RNA tryptophan 9 (anticodon CCA)|transfer RNA-Trp (CCA) 3-2|transfer RNA-Trp (CCA) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-08 100189436 HG984067 tRNA-Trp-CCA-3-1 HGNC:35006 +HGNC:34607 TRW-CCA3-2 tRNA-Trp (anticodon CCA) 3-2 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Trp-CCA-3-2 "TRNAW2|TRW-CCA3-3" "transfer RNA tryptophan 2 (anticodon CCA)|transfer RNA-Trp (CCA) 3-3|transfer RNA-Trp (CCA) 3-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189048 HG984068 tRNA-Trp-CCA-3-2 HGNC:34607 +HGNC:34674 TRW-CCA3-3 tRNA-Trp (anticodon CCA) 3-3 non-coding RNA RNA, transfer Approved 17p13.1 17p13.1 tRNA-Trp-CCA-3-3 "TRNAW3|TRW-CCA3-1" "transfer RNA tryptophan 3 (anticodon CCA)|transfer RNA-Trp (CCA) 3-1|transfer RNA-Trp (CCA) 3-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189112 HG984066 tRNA-Trp-CCA-3-3 HGNC:34674 +HGNC:34733 TRW-CCA4-1 tRNA-Trp (anticodon CCA) 4-1 non-coding RNA RNA, transfer Approved 12q23.1 12q23.1 tRNA-Trp-CCA-4-1 TRNAW5 "transfer RNA tryptophan 5 (anticodon CCA)|transfer RNA-Trp (CCA) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189171 HG984069 tRNA-Trp-CCA-4-1 HGNC:34733 +HGNC:34753 TRW-CCA5-1 tRNA-Trp (anticodon CCA) 5-1 non-coding RNA RNA, transfer Approved 7q22.1 07q22.1 tRNA-Trp-CCA-5-1 TRNAW6 "transfer RNA tryptophan 6 (anticodon CCA)|transfer RNA-Trp (CCA) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189190 HG984070 tRNA-Trp-CCA-5-1 HGNC:34753 +HGNC:34876 TRW-CCA6-1 tRNA-Trp (anticodon CCA) 6-1 non-coding RNA RNA, transfer Approved 9 09 tRNA-Trp-CCA-6-1 TRNAW8 "transfer RNA tryptophan 8 (anticodon CCA)|transfer RNA-Trp (CCA) 6-1" 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189309 HG984071 tRNA-Trp-CCA-6-1 +HGNC:34574 TRX-CAT1-1 tRNA-iMet (anticodon CAT) 1-1 non-coding RNA RNA, transfer Approved 1q21.3 01q21.3 tRNA-iMet-CAT-1-1 transfer RNA initiator methionine (CAT) 1-1 TRNAM3 "transfer RNA methionine 3 (anticodon CAU)|transfer RNA-iMet (CAT) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189015 HG984136 tRNA-iMet-CAT-1-1 HGNC:34574 +HGNC:12318 TRX-CAT1-2 tRNA-iMet (anticodon CAT) 1-2 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-iMet-CAT-1-2 transfer RNA initiator methionine (CAT) 1-3 "TRM1|TRNAMI2|TRM2|TRMI2|TRNAM1|TRX-CAT1-3" "tRNA methionine 1|tRNA methionine 1 (anticodon CAU)|transfer RNA methionine initiator 2 (anticodon CAU)|tRNA methionine initiator 2|transfer RNA methionine initiator 2|transfer RNA methionine 1 (anticodon CAU)|transfer RNA-iMet (CAT) 1-3|transfer RNA-iMet (CAT) 1-2" Cytoplasmic transfer RNAs 842 1995-05-08 2016-02-15 2019-05-01 2019-05-08 7210 HG984138 8661117 180621 tRNA-iMet-CAT-1-2 HGNC:12318 +HGNC:34655 TRX-CAT1-3 tRNA-iMet (anticodon CAT) 1-3 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-iMet-CAT-1-3 transfer RNA initiator methionine (CAT) 1-4 "TRNAM6|TRX-CAT1-4" "transfer RNA methionine 6 (anticodon CAU)|transfer RNA-iMet (CAT) 1-4|transfer RNA-iMet (CAT) 1-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189094 HG984139 tRNA-iMet-CAT-1-3 HGNC:34655 +HGNC:34599 TRX-CAT1-4 tRNA-iMet (anticodon CAT) 1-4 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-iMet-CAT-1-4 transfer RNA initiator methionine (CAT) 1-5 "TRNAM4|TRX-CAT1-5" "transfer RNA methionine 4 (anticodon CAU)|transfer RNA-iMet (CAT) 1-5|transfer RNA-iMet (CAT) 1-4" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189040 HG984140 tRNA-iMet-CAT-1-4 HGNC:34599 +HGNC:34913 TRX-CAT1-5 tRNA-iMet (anticodon CAT) 1-5 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-iMet-CAT-1-5 transfer RNA initiator methionine (CAT) 1-6 "TRNAM18|TRX-CAT1-6" "transfer RNA methionine 18 (anticodon CAU)|transfer RNA-iMet (CAT) 1-6|transfer RNA-iMet (CAT) 1-5" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189345 HG984141 tRNA-iMet-CAT-1-5 HGNC:34913 +HGNC:34863 TRX-CAT1-6 tRNA-iMet (anticodon CAT) 1-6 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-iMet-CAT-1-6 transfer RNA initiator methionine (CAT) 1-7 "TRNAM15|TRX-CAT1-7" "transfer RNA methionine 15 (anticodon CAU)|transfer RNA-iMet (CAT) 1-7|transfer RNA-iMet (CAT) 1-6" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189297 HG984142 tRNA-iMet-CAT-1-6 HGNC:34863 +HGNC:34882 TRX-CAT1-7 tRNA-iMet (anticodon CAT) 1-7 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-iMet-CAT-1-7 transfer RNA initiator methionine (CAT) 1-8 "TRNAM17|TRX-CAT1-8" "transfer RNA methionine 17 (anticodon CAU)|transfer RNA-iMet (CAT) 1-8|transfer RNA-iMet (CAT) 1-7" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189315 HG984143 tRNA-iMet-CAT-1-7 HGNC:34882 +HGNC:34818 TRX-CAT1-8 tRNA-iMet (anticodon CAT) 1-8 non-coding RNA RNA, transfer Approved 17q25.3 17q25.3 tRNA-iMet-CAT-1-8 transfer RNA initiator methionine (CAT) 1-2 "TRNAM14|TRX-CAT1-2" "transfer RNA methionine 14 (anticodon CAU)|transfer RNA-iMet (CAT) 1-2|transfer RNA-iMet (CAT) 1-8" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189255 HG984137 tRNA-iMet-CAT-1-8 HGNC:34818 +HGNC:12322 TRX-CAT2-1 tRNA-iMet (anticodon CAT) 2-1 non-coding RNA RNA, transfer Approved 6p22.1 06p22.1 tRNA-iMet-CAT-2-1 transfer RNA initiator methionine (CAT) 2-1 "TRM1|TRMI1|TRNAMI1|TRNAM2" "transfer RNA methionine initiator 1 (anticodon CAU)|transfer RNA methionine 2 (anticodon CAU)|transfer RNA-iMet (CAT) 2-1" Cytoplasmic transfer RNAs 842 2001-06-22 2014-06-19 2019-05-01 2019-05-01 7212 HG984144 6261953 180620 tRNA-iMet-CAT-2-1 HGNC:12322 +HGNC:34749 TRX-CAT3-1 tRNA-iMet (anticodon CAT) 3-1 pseudogene pseudogene Approved 9p22.1 09p22.1 tRNA-iMet-CAT-3-1 transfer RNA initiator methionine (CAT) 3-1 TRNAM10 "transfer RNA methionine 10 (anticodon CAU)|transfer RNA-iMet (CAT) 3-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189186 HG984145 tRNA-iMet-CAT-3-1 +HGNC:34816 TRY-ATA1-1 tRNA-Tyr (anticodon ATA) 1-1 non-coding RNA RNA, transfer Approved 2q35 02q35 tRNA-Tyr-ATA-1-1 TRNAY9 "transfer RNA tyrosine 9 (anticodon AUA)|transfer RNA-Tyr (ATA) 1-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189253 HG984073 tRNA-Tyr-ATA-1-1 HGNC:34816 +HGNC:34835 TRY-GTA1-1 tRNA-Tyr (anticodon GTA) 1-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Tyr-GTA-1-1 TRNAY10 "transfer RNA tyrosine 10 (anticodon GUA)|transfer RNA-Tyr (GTA) 1-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189272 HG984074 tRNA-Tyr-GTA-1-1 HGNC:34835 +HGNC:34581 TRY-GTA2-1 tRNA-Tyr (anticodon GTA) 2-1 non-coding RNA RNA, transfer Approved 2p23.3 02p23.3 tRNA-Tyr-GTA-2-1 TRNAY4 "transfer RNA tyrosine 4 (anticodon GUA)|transfer RNA-Tyr (GTA) 2-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189022 HG984075 tRNA-Tyr-GTA-2-1 HGNC:34581 +HGNC:34724 TRY-GTA3-1 tRNA-Tyr (anticodon GTA) 3-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Tyr-GTA-3-1 TRNAY7 "transfer RNA tyrosine 7 (anticodon GUA)|transfer RNA-Tyr (GTA) 3-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189162 HG984076 tRNA-Tyr-GTA-3-1 HGNC:34724 +HGNC:34974 TRY-GTA4-1 tRNA-Tyr (anticodon GTA) 4-1 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Tyr-GTA-4-1 TRNAY13 "transfer RNA tyrosine 13 (anticodon GUA)|transfer RNA-Tyr (GTA) 4-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189405 HG984077 tRNA-Tyr-GTA-4-1 HGNC:34974 +HGNC:35007 TRY-GTA5-1 tRNA-Tyr (anticodon GTA) 5-1 non-coding RNA RNA, transfer Approved 8q13.1 08q13.1 tRNA-Tyr-GTA-5-1 "TRNAY15|TRY-GTA5-4" "transfer RNA tyrosine 15 (anticodon GUA)|transfer RNA-Tyr (GTA) 5-4|transfer RNA-Tyr (GTA) 5-1" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189437 HG984081 tRNA-Tyr-GTA-5-1 HGNC:35007 +HGNC:34663 TRY-GTA5-2 tRNA-Tyr (anticodon GTA) 5-2 non-coding RNA RNA, transfer Approved 8q13.1 08q13.1 tRNA-Tyr-GTA-5-2 "TRNAY6|TRY-GTA5-5" "transfer RNA tyrosine 6 (anticodon GUA)|transfer RNA-Tyr (GTA) 5-5|transfer RNA-Tyr (GTA) 5-2" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189102 HG984082 tRNA-Tyr-GTA-5-2 HGNC:34663 +HGNC:34993 TRY-GTA5-3 tRNA-Tyr (anticodon GTA) 5-3 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Tyr-GTA-5-3 "TRNAY14|TRY-GTA5-1" "transfer RNA tyrosine 14 (anticodon GUA)|transfer RNA-Tyr (GTA) 5-1|transfer RNA-Tyr (GTA) 5-3" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189424 HG984078 tRNA-Tyr-GTA-5-3 HGNC:34993 +HGNC:33250 TRY-GTA5-4 tRNA-Tyr (anticodon GTA) 5-4 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Tyr-GTA-5-4 "TRNAY2|TRY-GTA5-2" "transfer RNA tyrosine 2 (anticodon GUA)|transfer RNA-Tyr (GTA) 5-2|transfer RNA-Tyr (GTA) 5-4" Cytoplasmic transfer RNAs 842 2007-02-01 2016-02-15 2019-05-01 2019-05-01 100009602 HG984079 3636257 tRNA-Tyr-GTA-5-4 HGNC:33250 +HGNC:34558 TRY-GTA5-5 tRNA-Tyr (anticodon GTA) 5-5 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Tyr-GTA-5-5 "TRNAY3|TRY-GTA5-3" "transfer RNA tyrosine 3 (anticodon GUA)|transfer RNA-Tyr (GTA) 5-3|transfer RNA-Tyr (GTA) 5-5" Cytoplasmic transfer RNAs 842 2008-08-29 2016-02-15 2019-05-01 2019-05-01 100189001 HG984080 tRNA-Tyr-GTA-5-5 HGNC:34558 +HGNC:34782 TRY-GTA6-1 tRNA-Tyr (anticodon GTA) 6-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Tyr-GTA-6-1 TRNAY8 "transfer RNA tyrosine 8 (anticodon GUA)|transfer RNA-Tyr (GTA) 6-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189219 HG984083 tRNA-Tyr-GTA-6-1 HGNC:34782 +HGNC:33249 TRY-GTA7-1 tRNA-Tyr (anticodon GTA) 7-1 non-coding RNA RNA, transfer Approved 14q11.2 14q11.2 tRNA-Tyr-GTA-7-1 TRNAY1 "transfer RNA tyrosine 1 (anticodon GUA)|transfer RNA-Tyr (GTA) 7-1" Cytoplasmic transfer RNAs 842 2007-02-01 2014-06-19 2019-05-01 2019-05-01 100009601 HG984084 3636257 tRNA-Tyr-GTA-7-1 HGNC:33249 +HGNC:34905 TRY-GTA8-1 tRNA-Tyr (anticodon GTA) 8-1 non-coding RNA RNA, transfer Approved 6p22.2 06p22.2 tRNA-Tyr-GTA-8-1 TRNAY12 "transfer RNA tyrosine 12 (anticodon GUA)|transfer RNA-Tyr (GTA) 8-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189337 HG984085 tRNA-Tyr-GTA-8-1 HGNC:34905 +HGNC:34616 TRY-GTA9-1 tRNA-Tyr (anticodon GTA) 9-1 non-coding RNA RNA, transfer Approved 8q13.1 08q13.1 tRNA-Tyr-GTA-9-1 TRNAY5 "transfer RNA tyrosine 5 (anticodon GUA)|transfer RNA-Tyr (GTA) 9-1" Cytoplasmic transfer RNAs 842 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189057 HG984086 tRNA-Tyr-GTA-9-1 +HGNC:34842 TRY-GTA10-1 tRNA-Tyr (GTA) 10-1 non-coding RNA RNA, transfer Approved 7q36.1 07q36.1 tRNA-Tyr-GTA-10-1 TRNAY11 "transfer RNA tyrosine 11 (anticodon GUA)|transfer RNA-Tyr (GTA) 10-1" Low confidence cytoplasmic transfer RNAs 1877 2008-08-29 2014-06-19 2019-03-28 2019-03-28 100189278 HG984087 tRNA-Tyr-GTA-10-1 +HGNC:35082 TRY-GTA11-1 tRNA-Tyr (anticodon GTA) 11-1 pseudogene pseudogene Approved 7q36.1 07q36.1 tRNA-Tyr-GTA-11-1 TRNAY17P "transfer RNA tyrosine 17 (anticodon GUA) pseudogene|transfer RNA-Tyr (GTA) 11-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-05-01 100189507 HG984088 NG_008565 tRNA-Tyr-GTA-11-1 HGNC:35082 +HGNC:35071 TRY-GTA12-1 tRNA-Tyr (anticodon GTA) 12-1 pseudogene pseudogene Approved 15q26.1 15q26.1 tRNA-Tyr-GTA-12-1 TRNAY16P "transfer RNA tyrosine 16 (anticodon GUA) pseudogene|transfer RNA-Tyr (GTA) 12-1" Cytoplasmic transfer RNA pseudogenes 1681 2008-08-29 2014-06-19 2019-05-01 2019-12-06 100189496 HG984089 NG_008554 tRNA-Tyr-GTA-12-1 HGNC:35071 +HGNC:30636 TSACC TSSK6 activating cochaperone protein-coding gene gene with protein product Approved 1q22 01q22 "SSTK-IP|SIP" SSTK-interacting protein C1orf182 chromosome 1 open reading frame 182 2005-08-01 2012-08-16 2016-05-24 2016-05-24 128229 ENSG00000163467 OTTHUMG00000024060 uc001foo.4 AY048672 NM_144627 "CCDS1141|CCDS76223" Q96A04 20829357 MGI:1924177 RGD:1304953 619679 HGNC:30636 "ENST00000368254.6|NM_001304817.2" +HGNC:13922 TSBP1 testis expressed basic protein 1 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 TSBP testis specific basic protein C6orf10 chromosome 6 open reading frame 10 2001-04-06 2018-08-22 2018-08-22 2018-08-22 10665 ENSG00000204296 OTTHUMG00000031107 uc021yvt.3 U60665 NM_006781 "CCDS75430|CCDS69082|CCDS34422" Q5SRN2 10803852 MGI:3039565 RGD:1597063 618151 HGNC:13922 +HGNC:39756 TSBP1-AS1 TSBP1 and BTNL2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p21.32 06p21.32 XXbac-BPG154L12.4 Antisense RNAs 1987 2018-08-22 2018-08-22 101929163 ENSG00000225914 OTTHUMG00000150222 NR_136245 HGNC:39756 +HGNC:12362 TSC1 TSC complex subunit 1 protein-coding gene gene with protein product Approved 9q34 09q34 "KIAA0243|LAM|hamartin" hamartin TSC tuberous sclerosis 1 "Armadillo like helical domain containing|TSC complex" "1492|1497" 1986-01-01 2017-06-29 2021-05-26 7248 ENSG00000165699 OTTHUMG00000020844 uc004cca.3 AF013168 NM_000368 "CCDS6956|CCDS55350|CCDS87703" Q92574 "9242607|10806479" MGI:1929183 RGD:620124 "TSC Mutation Database|http://www.LOVD.nl/TSC1|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TSC1|LRG_486|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_486.xml" TSC1 605284 120309 HGNC:12362 "ENST00000298552.9|NM_000368.5" HGNC:12362 +HGNC:12363 TSC2 TSC complex subunit 2 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "tuberin|LAM|PPP1R160" protein phosphatase 1, regulatory subunit 160 TSC4 tuberous sclerosis 2 "Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing|TSC complex" "694|1492|1497" 1989-05-25 2017-06-29 2021-05-26 7249 ENSG00000103197 OTTHUMG00000128745 uc002con.4 AB014460 NM_000548 "CCDS10458|CCDS45384|CCDS81934|CCDS81933|CCDS81932|CCDS58408|CCDS10459" P49815 "1303246|7558029" MGI:102548 RGD:3908 "TSC2 Mutation Database|http://www.LOVD.nl/TSC2|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TSC2|LRG_487|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_487.xml" TSC2 191092 120315 HGNC:12363 "ENST00000219476.9|NM_000548.5" HGNC:12363 +HGNC:16826 TSC22D1 TSC22 domain family member 1 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "TSC22|MGC17597" TGFB1I4 "transforming growth factor beta 1 induced transcript 4|TSC22 domain family, member 1" 2004-04-16 2005-03-03 2015-11-18 2016-10-05 8848 ENSG00000102804 OTTHUMG00000016838 uc001uzm.5 AJ222700 NM_006022 "CCDS31966|CCDS73565|CCDS9392|CCDS58291" Q15714 "8651929|9022669" MGI:109127 RGD:3850 607715 HGNC:16826 "ENST00000458659.3|NM_183422.4" +HGNC:43684 TSC22D1-AS1 TSC22D1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 TSC22D1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-01-30 2012-08-15 2012-10-12 641467 ENSG00000278156 OTTHUMG00000187411 uc021rjb.2 BC040675 NR_038381 TSC22D1-AS1 HGNC:43684 +HGNC:29095 TSC22D2 TSC22 domain family member 2 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "KIAA0669|TILZ4a|TILZ4b|TILZ4c" TSC22 domain family, member 2 2005-03-01 2015-11-18 2015-11-18 9819 ENSG00000196428 OTTHUMG00000159744 uc003exv.4 AB014569 NM_014779 CCDS3149 O75157 9734811 MGI:1919283 RGD:1593169 617724 HGNC:29095 "ENST00000688009.1|NM_001303264.2" +HGNC:3051 TSC22D3 TSC22 domain family member 3 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "DIP|GILZ|TSC-22R|hDIP" glucocorticoid-induced leucine zipper DSIPI "delta sleep inducing peptide, immunoreactor|TSC22 domain family, member 3" 1997-06-24 2005-03-03 2015-11-18 2015-11-18 1831 ENSG00000157514 OTTHUMG00000022168 uc004eng.4 Z50781 NM_198057 "CCDS14530|CCDS35365|CCDS14531" Q99576 8982256 MGI:1196284 RGD:621654 300506 HGNC:3051 "ENST00000372383.9|NM_198057.3" +HGNC:21696 TSC22D4 TSC22 domain family member 4 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "THG-1|TILZ2" TSC22 domain family, member 4 2005-03-01 2015-11-18 2016-10-05 81628 ENSG00000166925 OTTHUMG00000150233 uc003uva.3 BC010406 NM_030935 CCDS5695 Q9Y3Q8 MGI:1926079 RGD:1584380 611914 HGNC:21696 "ENST00000300181.7|NM_030935.5" +HGNC:28422 TSEN2 tRNA splicing endonuclease subunit 2 protein-coding gene gene with protein product Approved 3p25.2 03p25.2 "SEN2|SEN2L|MGC2776" "tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)|tRNA splicing endonuclease 2 homolog (S. cerevisiae)|TSEN2 tRNA splicing endonuclease subunit" tRNA-splicing endonuclease subunits 776 2005-03-07 2015-11-27 2021-05-26 80746 ENSG00000154743 OTTHUMG00000129765 uc003bxb.4 BC019582 NM_025265 "CCDS46758|CCDS2611|CCDS46757" Q8NCE0 15109492 MGI:2141599 RGD:1309946 608753 169410 HGNC:28422 "ENST00000284995.11|NM_025265.4" HGNC:28422 +HGNC:43965 TSEN2P1 tRNA splicing endonuclease subunit 2 pseudogene 1 pseudogene pseudogene Approved 4q34.2 04q34.2 "tRNA splicing endonuclease 2 homolog (S. cerevisiae) pseudogene 1|TSEN2 tRNA splicing endonuclease subunit pseudogene 1" 2012-05-17 2015-11-27 2015-11-27 391718 ENSG00000251174 OTTHUMG00000160763 NG_009835 PGOHUM00000246144 HGNC:43965 +HGNC:16791 TSEN15 tRNA splicing endonuclease subunit 15 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 C1orf19 "chromosome 1 open reading frame 19|tRNA splicing endonuclease 15 homolog (S. cerevisiae)|TSEN15 tRNA splicing endonuclease subunit" tRNA-splicing endonuclease subunits 776 2001-10-08 2008-06-12 2015-11-27 2021-05-26 116461 ENSG00000198860 OTTHUMG00000035461 uc001gqt.5 AF288394 NM_001127394 "CCDS86038|CCDS44286|CCDS1361|CCDS72993" Q8WW01 "11318611|17166513" MGI:1913887 RGD:1308584 608756 461308 HGNC:16791 "ENST00000645668.2|NM_052965.4" HGNC:16791 +HGNC:43962 TSEN15P1 tRNA splicing endonuclease subunit 15 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 "tRNA splicing endonuclease 15 homolog (S. cerevisiae) pseudogene 1|TSEN15 tRNA splicing endonuclease subunit pseudogene 1" 2012-05-17 2015-11-27 2015-11-27 100288179 ENSG00000230865 OTTHUMG00000059289 NG_030099 PGOHUM00000237247 HGNC:43962 +HGNC:43963 TSEN15P2 tRNA splicing endonuclease subunit 15 pseudogene 2 pseudogene pseudogene Approved 1p32.3 01p32.3 "tRNA splicing endonuclease 15 homolog (S. cerevisiae) pseudogene 2|TSEN15 tRNA splicing endonuclease subunit pseudogene 2" 2012-05-17 2015-11-27 2015-11-27 106480781 ENSG00000230604 OTTHUMG00000008626 NG_029171 PGOHUM00000244717 HGNC:43963 +HGNC:43964 TSEN15P3 tRNA splicing endonuclease subunit 15 pseudogene 3 pseudogene pseudogene Approved 7p15.3 07p15.3 "tRNA splicing endonuclease 15 homolog (S. cerevisiae) pseudogene 3|TSEN15 tRNA splicing endonuclease subunit pseudogene 3" 2012-05-17 2015-11-27 2015-11-27 105375192 ENSG00000234922 OTTHUMG00000152597 NG_046697 PGOHUM00000232622 HGNC:43964 +HGNC:15506 TSEN34 tRNA splicing endonuclease subunit 34 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "SEN34|SEN34L" LENG5 "leukocyte receptor cluster (LRC) member 5|tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)|tRNA splicing endonuclease 34 homolog (S. cerevisiae)|TSEN34 tRNA splicing endonuclease subunit" tRNA-splicing endonuclease subunits 776 2004-01-28 2005-03-12 2015-11-27 2021-05-26 79042 ENSG00000170892 OTTHUMG00000066515 uc032icq.1 AF211970 NM_024075 CCDS42609 Q9BSV6 "10941842|15109492" MGI:1913328 RGD:1359564 608754 169405 HGNC:15506 "ENST00000396388.3|NM_001077446.4" HGNC:15506 +HGNC:27561 TSEN54 tRNA splicing endonuclease subunit 54 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "SEN54|SEN54L" "tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)|tRNA splicing endonuclease 54 homolog (S. cerevisiae)|TSEN54 tRNA splicing endonuclease subunit" tRNA-splicing endonuclease subunits 776 2005-03-11 2015-11-27 2021-05-26 283989 ENSG00000182173 OTTHUMG00000179684 uc002jof.2 AK097583 NM_207346 CCDS11724 Q7Z6J9 15109492 MGI:1923515 RGD:1597379 608755 168268 HGNC:27561 "ENST00000333213.11|NM_207346.3" HGNC:27561 +HGNC:12367 TSFM Ts translation elongation factor, mitochondrial protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "EF-Tsmt|EF-TS" 1999-05-25 2014-11-18 10102 ENSG00000123297 OTTHUMG00000153042 uc001sqi.4 L37936 NM_005726 "CCDS53810|CCDS53811|CCDS53809|CCDS8958" P43897 7615523 MGI:1913649 RGD:1593058 604723 173154 HGNC:12367 "ENST00000652027.2|NM_005726.6" HGNC:12367 +HGNC:15971 TSG101 tumor susceptibility 101 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 VPS23 TSG10 "tumor susceptibility gene 10|tumor susceptibility gene 101" ESCRT-I 1116 2001-07-20 2013-08-22 2016-10-05 7251 ENSG00000074319 OTTHUMG00000167725 uc001mor.4 U82130 NM_006292 CCDS7842 Q99816 "9019400|9241264" MGI:106581 RGD:3909 601387 HGNC:15971 "ENST00000251968.4|NM_006292.4" +HGNC:14927 TSGA10 testis specific 10 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "CEP4L|CT79" cancer/testis antigen 79 2001-03-20 2015-11-12 2015-11-12 80705 ENSG00000135951 OTTHUMG00000130637 uc002szi.5 AF254756 NM_182911 CCDS2037 Q9BZW7 11179690 MGI:2685063 RGD:621142 607166 HGNC:14927 "ENST00000393483.8|NM_025244.4" +HGNC:26555 TSGA10IP testis specific 10 interacting protein protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "FLJ32880|FAM161C" 2004-06-29 2015-11-12 2018-04-05 254187 ENSG00000175513 OTTHUMG00000166753 uc031xsf.2 AK057442 NM_152762 CCDS66138 Q3SY00 14702039 MGI:1925556 RGD:1302964 HGNC:26555 +HGNC:12369 TSGA13 testis specific 13 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 2000-08-11 2015-11-12 2016-10-05 114960 ENSG00000213265 OTTHUMG00000154999 uc003vqj.4 AK093329 NM_052933 CCDS5824 Q96PP4 MGI:1891413 RGD:1584118 HGNC:12369 "ENST00000356588.8|NM_052933.4" +HGNC:12372 TSHB thyroid stimulating hormone subunit beta protein-coding gene gene with protein product Approved 1p13.2 01p13.2 thyrotropin subunit beta thyroid stimulating hormone beta "Receptor ligands|Glycoprotein hormone subunits" "542|1896" 2001-06-22 2019-05-09 2021-05-26 7252 ENSG00000134200 OTTHUMG00000011881 uc001efs.2 BC069298 NM_000549 CCDS880 P01222 "2457586|3243440" MGI:98848 RGD:3910 188540 166731 ligandId:3734 HGNC:12372 "ENST00000256592.3|NM_000549.5" HGNC:12372 +HGNC:12373 TSHR thyroid stimulating hormone receptor protein-coding gene gene with protein product Approved 14q24-q31 14q24-q31 LGR3 Glycoprotein hormone receptors 199 1990-03-05 2021-05-26 7253 ENSG00000165409 OTTHUMG00000171429 uc059dxz.1 AY429111 NM_000369 "CCDS55935|CCDS9872|CCDS32131" P16473 "2558651|2610690" MGI:98849 RGD:3911 "TSH Receptor mutation database|http://endokrinologie.uniklinikum-leipzig.de/tsh/|LRG_523|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_523.xml" TSHR 603372 120320 objectId:255 HGNC:12373 "ENST00000298171.7|NM_000369.5" HGNC:12373 +HGNC:10669 TSHZ1 teashirt zinc finger homeobox 1 protein-coding gene gene with protein product Approved 18q22.3 18q22.3 "NY-CO-33|TSH1" SDCCAG33 "serologically defined colon cancer antigen 33|teashirt zinc finger 1|teashirt family zinc finger 1" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1999-07-23 2006-03-14 2007-07-16 2021-05-26 10194 ENSG00000179981 OTTHUMG00000132859 uc002lly.4 AF039698 NM_005786 "CCDS12009|CCDS77199" Q6ZSZ6 17586487 MGI:1346031 RGD:1311684 614427 8614 292088 HGNC:10669 "ENST00000580243.3|NM_001308210.2" HGNC:10669 +HGNC:13010 TSHZ2 teashirt zinc finger homeobox 2 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "ZABC2|OVC10-2|TSH2" "C20orf17|ZNF218" "chromosome 20 open reading frame 17|zinc finger protein 218|teashirt family zinc finger 2" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1998-08-13 2006-03-14 2007-07-16 2014-11-18 128553 ENSG00000182463 OTTHUMG00000033058 uc002xwo.3 AF230201 NM_173485 "CCDS54474|CCDS33490" Q9NRE2 9671742 MGI:2153084 RGD:6490867 614118 8615 HGNC:13010 "ENST00000371497.10|NM_173485.6" +HGNC:30700 TSHZ3 teashirt zinc finger homeobox 3 protein-coding gene gene with protein product Approved 19q12 19q12 "KIAA1474|TSH3" teashirt 3 ZNF537 "zinc finger protein 537|teashirt family zinc finger 3" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 2004-02-10 2006-03-14 2007-07-16 2016-10-05 57616 ENSG00000121297 OTTHUMG00000150184 uc002nsy.5 AL136805 NM_020856 CCDS12421 Q63HK5 MGI:2442819 RGD:1306322 614119 8616 HGNC:30700 "ENST00000240587.5|NM_020856.4" HGNC:30700 +HGNC:55288 TSHZ3-AS1 TSHZ3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q12 19q12 Antisense RNAs 1987 2020-10-14 2020-10-14 107985311 ENSG00000267662 XR_001753896 +HGNC:12377 TSIX TSIX transcript, XIST antisense RNA non-coding RNA RNA, long non-coding Approved Xq13.2 Xq13.2 "NCRNA00013|XIST-AS1|LINC00013" "XIST antisense RNA (non-protein coding)|long intergenic non-protein coding RNA 13" "X (inactive)-specific transcript, antisense|TSIX transcript, XIST antisense RNA (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 1999-09-28 2012-08-15 2018-09-12 9383 ENSG00000270641 OTTHUMG00000184725 uc004ebn.2 NR_003255 10192391 MGI:1336196 300181 tsix TSIX HGNC:12377 +HGNC:30719 TSKS testis specific serine kinase substrate protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "TSSKS|PPP1R161" protein phosphatase 1, regulatory subunit 161 Protein phosphatase 1 regulatory subunits 694 2009-02-23 2016-01-26 2016-01-26 60385 ENSG00000126467 OTTHUMG00000183249 uc002ppm.4 BC058862 NM_021733 CCDS12780 Q9UJT2 "11444856|18495105" MGI:1347560 RGD:727784 608253 HGNC:30719 "ENST00000246801.8|NM_021733.2" +HGNC:28850 TSKU tsukushi, small leucine rich proteoglycan protein-coding gene gene with protein product Approved 11q13.5 11q13.5 "E2IG4|TSK" LRRC54 "leucine rich repeat containing 54|tsukushin|tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)" 2005-09-13 2006-11-21 2012-12-05 2014-11-18 25987 ENSG00000182704 OTTHUMG00000165238 uc031qcw.2 AK075476 NM_015516 CCDS8246 Q8WUA8 "11085516|19710929|22880013" MGI:2443855 RGD:1359311 608015 HGNC:28850 "ENST00000333090.5|NM_015516.4" +HGNC:55509 TSKU-AS1 TSKU antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q13.5 11q13.5 Antisense RNAs 1987 2021-03-17 2021-03-17 101928837 ENSG00000255100 NR_120561 +HGNC:30743 TSLP thymic stromal lymphopoietin protein-coding gene gene with protein product Approved 5q22.1 05q22.1 2007-08-24 2014-11-18 85480 ENSG00000145777 OTTHUMG00000128791 uc003kpb.3 BC040592 NM_033035 CCDS4101 Q969D9 "11418668|11480573" MGI:1855696 RGD:1586479 607003 ligandId:5083 HGNC:30743 "ENST00000344895.4|NM_033035.5" +HGNC:12379 TSN translin protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "TRSLN|BCLF-1|REHF-1" recombination hotspot associated factor 1997-05-15 2016-10-05 7247 ENSG00000211460 OTTHUMG00000153334 uc002tnl.4 X78627 NM_004622 "CCDS33284|CCDS58723" Q15631 "7947454|9244443" MGI:109263 RGD:621107 600575 HGNC:12379 "ENST00000389682.8|NM_004622.3" +HGNC:26437 TSNARE1 t-SNARE domain containing 1 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ31164 2005-08-18 2016-11-01 203062 ENSG00000171045 OTTHUMG00000164867 uc003ywk.4 NM_145003 "CCDS87630|CCDS78369|CCDS6384" Q96NA8 14702039 HGNC:26437 "ENST00000524325.6|NM_145003.5" +HGNC:12380 TSNAX translin associated factor X protein-coding gene gene with protein product Approved 1q42.2 01q42.2 "TRAX|C3PO" Endoribonucleases 1687 1997-05-15 2016-05-31 2018-11-26 7257 ENSG00000116918 OTTHUMG00000039486 uc001huw.4 X95073 NM_005999 CCDS1596 Q99598 9013868 MGI:1855672 RGD:621574 602964 HGNC:12380 "ENST00000366639.9|NM_005999.3" +HGNC:49177 TSNAX-DISC1 TSNAX-DISC1 readthrough (NMD candidate) other readthrough Approved 1q42.2 01q42.2 2013-09-24 2013-09-24 100303453 ENSG00000270106 OTTHUMG00000183905 NR_028393 HGNC:49177 +HGNC:18586 TSNAXIP1 translin associated factor X interacting protein 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 TXI1 translin-associated factor X interacting protein 1 2003-03-12 2016-03-29 2016-10-05 55815 ENSG00000102904 OTTHUMG00000137545 uc002euj.5 AF132730 NM_018430 "CCDS73903|CCDS73904|CCDS10846" Q2TAA8 12036294 MGI:1919486 RGD:1565341 607720 HGNC:18586 "ENST00000561639.6|NM_001288990.3" +HGNC:20657 TSPAN1 tetraspanin 1 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 "TSPAN-1|NET-1" Tetraspanins 768 2005-01-06 2016-10-05 10103 ENSG00000117472 OTTHUMG00000007602 uc001cpd.4 BC013404 NM_005727 CCDS530 O60635 "9714763|10719184" MGI:1914055 RGD:1303308 613170 HGNC:20657 "ENST00000372003.6|NM_005727.4" +HGNC:20659 TSPAN2 tetraspanin 2 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "TSPAN-2|TSN2|FLJ12082" Tetraspanins 768 2005-01-06 2016-10-05 10100 ENSG00000134198 OTTHUMG00000011878 uc001eft.5 AF054839 NM_005725 "CCDS76193|CCDS881" O60636 "9714763|11739647" MGI:1917997 RGD:620982 613133 HGNC:20659 "ENST00000369516.7|NM_005725.6" +HGNC:17752 TSPAN3 tetraspanin 3 protein-coding gene gene with protein product Approved 15q24.3 15q24.3 "TM4-A|TSPAN-3" TM4SF8 transmembrane 4 superfamily member 8 Tetraspanins 768 2003-07-21 2005-03-21 2005-03-21 2016-10-05 10099 ENSG00000140391 OTTHUMG00000143728 uc002bcj.4 NM_005724 "CCDS10292|CCDS10293|CCDS53963" O60637 MGI:1928098 RGD:1359444 613134 HGNC:17752 "ENST00000267970.9|NM_005724.6" +HGNC:11859 TSPAN4 tetraspanin 4 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "NAG-2|TSPAN-4|TETRASPAN" TM4SF7 transmembrane 4 superfamily member 7 Tetraspanins 768 1998-06-10 2005-03-21 2005-03-21 2014-11-19 7106 ENSG00000214063 OTTHUMG00000133305 uc001lsd.2 AF022813 NM_001025234 "CCDS7721|CCDS41589" O14817 9360996 MGI:1928097 RGD:1305810 602644 HGNC:11859 "ENST00000397397.7|NM_003271.5" +HGNC:17753 TSPAN5 tetraspanin 5 protein-coding gene gene with protein product Approved 4q23 04q23 "Tspan-5|NET-4" TM4SF9 transmembrane 4 superfamily member 9 Tetraspanins 768 2003-07-21 2005-03-21 2005-03-21 2016-10-05 10098 ENSG00000168785 OTTHUMG00000131008 uc003hub.4 NM_005723 CCDS3646 P62079 MGI:1928096 RGD:1303176 613136 HGNC:17753 "ENST00000305798.8|NM_005723.4" +HGNC:55389 TSPAN5-DT TSPAN5 divergent transcript non-coding RNA RNA, long non-coding Approved 4q23 04q23 Divergent transcripts 1990 2020-12-17 2020-12-17 105377342 ENSG00000260641 NR_148380 +HGNC:11858 TSPAN6 tetraspanin 6 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "T245|TSPAN-6" TM4SF6 transmembrane 4 superfamily member 6 Tetraspanins 768 1998-03-20 2005-03-21 2005-03-21 2020-04-02 7105 ENSG00000000003 OTTHUMG00000022002 uc004ega.3 AF043906 NM_001278740 "CCDS14470|CCDS76001" O43657 9782095 MGI:1926264 RGD:1560160 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TSPAN6 300191 HGNC:11858 "ENST00000373020.9|NM_003270.4" +HGNC:11854 TSPAN7 tetraspanin 7 protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "DXS1692E|TALLA-1|A15|CD231" "MXS1|TM4SF2|MRX58" "transmembrane 4 superfamily member 2|mental retardation, X-linked 58" "CD molecules|Tetraspanins" "471|768" 1993-12-08 2005-03-21 2005-03-21 2021-05-26 7102 ENSG00000156298 OTTHUMG00000024090 uc004deg.5 D29808 NM_004615 CCDS14248 P41732 12070254 MGI:1298407 RGD:1589725 300096 168155 CD231 HGNC:11854 "ENST00000378482.7|NM_004615.4" HGNC:11854 +HGNC:11855 TSPAN8 tetraspanin 8 protein-coding gene gene with protein product Approved 12q21.1 12q21.1 CO-029 TM4SF3 transmembrane 4 superfamily member 3 Tetraspanins 768 1997-10-16 2005-03-21 2005-03-21 2019-08-21 7103 ENSG00000127324 OTTHUMG00000169542 uc001swk.2 M35252 NM_004616 CCDS8999 P19075 2395876 MGI:2384918 RGD:621783 600769 HGNC:11855 "ENST00000247829.8|NM_004616.3" +HGNC:21640 TSPAN9 tetraspanin 9 protein-coding gene gene with protein product Approved 12p13.33-p13.32 12p13.33-p13.32 NET-5 Tetraspanins 768 2005-03-21 2018-02-13 10867 ENSG00000011105 OTTHUMG00000150333 uc021qtd.1 AF089749 NM_006675 CCDS8520 O75954 "10719184|11739647" MGI:1924558 RGD:1304740 613137 HGNC:21640 "ENST00000011898.10|NM_006675.5" +HGNC:41462 TSPAN9-IT1 TSPAN9 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 12p13.33 12p13.33 TSPAN9 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874356 ENSG00000256197 OTTHUMG00000168180 uc058jxh.1 TSPAN9-IT1 +HGNC:29942 TSPAN10 tetraspanin 10 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 OCSP oculospanin Tetraspanins 768 2005-03-21 2014-11-18 83882 ENSG00000182612 OTTHUMG00000178037 uc021ufc.3 BC032802 NM_031945 CCDS77130 Q9H1Z9 12107410 MGI:2384781 RGD:1590062 HGNC:29942 +HGNC:30795 TSPAN11 tetraspanin 11 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 Tetraspanins 768 2005-03-21 2020-04-01 441631 ENSG00000110900 OTTHUMG00000168484 uc001rjp.4 NM_001080509 CCDS31765 A1L157 MGI:1915748 RGD:1305424 HGNC:30795 "ENST00000546076.6|NM_001370302.1" +HGNC:21641 TSPAN12 tetraspanin 12 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 NET-2 TM4SF12 transmembrane 4 superfamily member 12 Tetraspanins 768 2003-07-21 2005-03-21 2005-03-21 2021-05-26 23554 ENSG00000106025 OTTHUMG00000156980 uc003vjk.4 AF124522 NM_012338 CCDS5777 O95859 MGI:1889818 RGD:1311102 613138 225339 HGNC:21641 "ENST00000222747.8|NM_012338.4" HGNC:21641 +HGNC:21643 TSPAN13 tetraspanin 13 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 NET-6 TM4SF13 transmembrane 4 superfamily member 13 Tetraspanins 768 2003-07-21 2005-03-21 2005-03-21 2016-10-05 27075 ENSG00000106537 OTTHUMG00000022968 uc003stq.4 AF100759 NM_014399 CCDS5363 O95857 MGI:1913359 RGD:1311788 613139 HGNC:21643 "ENST00000262067.5|NM_014399.4" +HGNC:23303 TSPAN14 tetraspanin 14 protein-coding gene gene with protein product Approved 10q23.1 10q23.1 "DC-TM4F2|MGC11352" TM4SF14 transmembrane 4 superfamily member 14 Tetraspanins 768 2004-10-19 2005-03-21 2005-03-21 2014-11-19 81619 ENSG00000108219 OTTHUMG00000018615 uc001kcj.5 AF311903 NM_030927 "CCDS44448|CCDS7369" Q8NG11 11230166 MGI:1196325 RGD:1305714 HGNC:23303 +HGNC:55833 TSPAN14-AS1 TSPAN14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q23.1 10q23.1 Antisense RNAs 1987 2021-08-02 2021-08-02 101929574 ENSG00000226659 NR_120661 +HGNC:23298 TSPAN15 tetraspanin 15 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 NET-7 TM4SF15 transmembrane 4 superfamily member 15 Tetraspanins 768 2004-10-19 2005-03-21 2005-03-21 2014-11-19 23555 ENSG00000099282 OTTHUMG00000018381 uc001jpo.2 AY358934 NM_012339 CCDS7294 O95858 "11739647|10719184" MGI:1917673 RGD:1588304 613140 HGNC:23298 "ENST00000373290.7|NM_012339.5" +HGNC:30725 TSPAN16 tetraspanin 16 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "TM4-B|TM-8" TM4SF16 transmembrane 4 superfamily member 16 Tetraspanins 768 2004-10-19 2005-03-21 2005-03-21 2015-09-08 26526 ENSG00000130167 OTTHUMG00000180833 uc032hmt.2 BC029908 NM_012466 "CCDS62549|CCDS62550|CCDS12256" Q9UKR8 10500248 617580 HGNC:30725 "ENST00000590327.6|NM_001282509.2" +HGNC:13594 TSPAN17 tetraspanin 17 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 FBX23 "FBXO23|TM4SF17" F-box only protein 23, transmembrane 4 superfamily member 17 Tetraspanins 768 2000-09-27 2005-03-21 2005-03-21 2016-10-05 26262 ENSG00000048140 OTTHUMG00000163230 uc003meu.4 AF174603 NM_001006616 "CCDS47346|CCDS34298|CCDS54952" Q96FV3 "10531035|10531037" MGI:1921507 RGD:1311167 HGNC:13594 "ENST00000508164.6|NM_130465.5" +HGNC:20660 TSPAN18 tetraspanin 18 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 TSPAN Tetraspanins 768 2005-03-21 2016-01-15 90139 ENSG00000157570 OTTHUMG00000163883 uc058ark.1 AY358087 NM_130783 CCDS7910 Q96SJ8 11756464 MGI:1917186 RGD:1560411 619399 HGNC:20660 "ENST00000520358.7|NM_130783.5" HGNC:20660 +HGNC:54221 TSPAN18-AS1 TSPAN18 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p11.2 11p11.2 Antisense RNAs 1987 2019-04-10 2019-04-10 115253419 ENSG00000255032 +HGNC:31886 TSPAN19 tetraspanin 19 protein-coding gene gene with protein product Approved 12q21.31 12q21.31 Tetraspanins 768 2005-03-21 2015-09-08 144448 ENSG00000231738 OTTHUMG00000166181 uc009zsj.4 NM_001100917 CCDS44949 P0C672 HGNC:31886 "ENST00000532498.7|NM_001100917.2" +HGNC:10539 TSPAN31 tetraspanin 31 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 SAS sarcoma amplified sequence Tetraspanins 768 1991-08-08 2005-08-16 2005-08-16 2016-10-25 6302 ENSG00000135452 OTTHUMG00000170381 uc001spt.4 NM_001330168 "CCDS8952|CCDS86313" Q12999 MGI:1914375 RGD:1309876 181035 HGNC:10539 "ENST00000257910.8|NM_005981.5" +HGNC:13410 TSPAN32 tetraspanin 32 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 "TSSC6|PHEMX" pan-hematopoietic expression Tetraspanins 768 2000-11-29 2005-08-16 2005-08-16 2016-10-05 10077 ENSG00000064201 OTTHUMG00000009762 uc001lvy.2 AF176070 NM_139024 CCDS7733 Q96QS1 "10072438|10950922" MGI:1350360 RGD:1308721 603853 HGNC:13410 "ENST00000182290.9|NM_139022.3" +HGNC:28743 TSPAN33 tetraspanin 33 protein-coding gene gene with protein product Approved 7q32.1 07q32.1 "MGC50844|Penumbra" Tetraspanins 768 2005-08-30 2016-10-05 340348 ENSG00000158457 OTTHUMG00000158420 uc033ahb.2 NM_178562 CCDS5810 Q86UF1 "16213355|16242907" MGI:1919012 RGD:1560915 610120 HGNC:28743 "ENST00000486685.3|NM_178562.5" +HGNC:1268 TSPEAR thrombospondin type laminin G domain and EAR repeats protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "MGC11251|TSP-EAR" "C21orf29|DFNB98" "chromosome 21 open reading frame 29|deafness, autosomal recessive 98" 2000-05-23 2011-01-25 2016-05-24 2021-05-26 54084 ENSG00000175894 OTTHUMG00000041215 uc002zfe.1 AJ487962 NM_144991 CCDS13712 Q8WU66 "12095917|22678063" MGI:2671932 RGD:1563108 612920 314938 HGNC:1268 "ENST00000323084.9|NM_144991.3" HGNC:1268 +HGNC:1271 TSPEAR-AS1 TSPEAR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 TSPEAR antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2000-05-23 2012-08-15 2012-10-12 54082 ENSG00000235890 OTTHUMG00000041216 uc062asq.1 NR_103707 TSPEAR-AS1 HGNC:1271 +HGNC:16428 TSPEAR-AS2 TSPEAR antisense RNA 2 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 C21orf90 chromosome 21 open reading frame 90 Antisense RNAs 1987 2001-08-24 2014-10-01 2014-10-01 2014-11-19 114043 ENSG00000182912 OTTHUMG00000041217 AF426270 NR_026547 P59090 12036297 TSPEAR-AS2 HGNC:16428 +HGNC:1158 TSPO translocator protein protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "PBR|MBR|PKBS|mDRC|DBI|IBP|pk18" peripheral-type benzodiazepine receptor/recognition site BZRP "benzodiazapine receptor (peripheral)|translocator protein (18kDa)" 1991-05-25 2006-07-12 2015-11-30 2020-09-17 706 ENSG00000100300 OTTHUMG00000150573 uc003bdn.4 AF075589 NM_007311 CCDS33661 "B1AH88|P30536" "1326278|1847678|16822554" MGI:88222 RGD:2228 109610 objectId:2879 HGNC:1158 "ENST00000337554.8|NM_000714.6" +HGNC:21256 TSPO2 translocator protein 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 dJ34B21.2 similar to RIKEN cDNA 2510027D20 BZRPL1 benzodiazapine receptor (peripheral)-like 1 2003-11-26 2009-09-04 2009-09-04 2014-11-19 222642 ENSG00000112212 OTTHUMG00000014666 uc003opj.4 NM_001010873.2 CCDS34444 Q5TGU0 19729679 MGI:1917276 RGD:1594018 619409 HGNC:21256 "ENST00000373161.6|NM_001010873.3" +HGNC:16831 TSPOAP1 TSPO associated protein 1 protein-coding gene gene with protein product Approved 17q22 17q22 "PRAX-1|KIAA0612|RIM-BP1|RIMBP1" BZRAP1 benzodiazepine receptor (peripheral) associated protein 1 Fibronectin type III domain containing 555 2003-03-10 2016-03-24 2016-03-24 2016-03-24 9256 ENSG00000005379 OTTHUMG00000178923 uc002ivx.6 AB014512 NM_004758 "CCDS11605|CCDS45742" O95153 "9734811|9915832" MGI:2450877 RGD:708563 610764 HGNC:16831 "ENST00000343736.9|NM_004758.4" HGNC:16831 +HGNC:44148 TSPOAP1-AS1 TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q22 17q22 BZRAP1-AS1 "BZRAP1 antisense RNA 1 (non-protein coding)|TSPOAP1 antisense RNA 1" Antisense RNAs 1987 2012-06-30 2016-06-07 2018-06-15 2018-06-15 100506779 ENSG00000265148 OTTHUMG00000178924 uc021uan.2 AK090885 NR_038410 29707762 HGNC:44148 +HGNC:12381 TSPY1 testis specific protein Y-linked 1 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 CT78 cancer/testis antigen 78 TSPY testis specific protein, Y-linked 1989-06-30 2004-04-07 2018-04-30 2018-04-30 7258 ENSG00000258992 OTTHUMG00000171452 uc065cqy.1 NM_003308 "CCDS76071|CCDS48205" Q01534 RGD:3912 480100 285739 HGNC:12381 "ENST00000451548.6|NM_003308.4" +HGNC:23924 TSPY2 testis specific protein Y-linked 2 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 TSPYQ1 2004-04-05 2018-04-30 2018-04-30 64591 ENSG00000168757 OTTHUMG00000040957 uc004fqr.2 AF106331 NM_022573 CCDS35465 A6NKD2 10773691 HGNC:23924 "ENST00000320701.9|NM_022573.4" +HGNC:33876 TSPY3 testis specific protein Y-linked 3 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 CT78 2009-01-27 2018-04-30 2018-04-30 728137 ENSG00000228927 OTTHUMG00000041535 uc033feo.1 BC075016 NM_001077697 CCDS48204 P0CV98 HGNC:33876 "ENST00000457222.6|NM_001077697.2" +HGNC:37287 TSPY4 testis specific protein Y-linked 4 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 2009-09-23 2018-04-30 2018-04-30 728395 ENSG00000233803 OTTHUMG00000041529 uc022cja.3 AK093413 NM_001164471 CCDS48202 P0CV99 HGNC:37287 +HGNC:23907 TSPY5P testis specific protein Y-linked 5, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 TSPYP5 testis specific protein, Y-linked pseudogene 5 2004-04-05 2009-10-16 2018-04-30 2018-04-30 379027 ENSG00000225685 OTTHUMG00000041615 NG_003093 12815422 PGOHUM00000233723 HGNC:23907 +HGNC:34039 TSPY6P testis specific protein Y-linked 6, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 TSPYP6 testis specific protein, Y-linked pseudogene 6 2008-04-02 2009-10-16 2018-04-30 2018-04-30 653174 ENSG00000270073 OTTHUMG00000041522 XR_016233 PGOHUM00000305631 HGNC:34039 +HGNC:34040 TSPY7P testis specific protein Y-linked 7, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 TSPYP7 testis specific protein, Y-linked pseudogene 7 2008-04-02 2009-10-16 2018-04-30 2018-04-30 653288 ENSG00000188656 OTTHUMG00000041533 XR_038447 HGNC:34040 +HGNC:37471 TSPY8 testis specific protein Y-linked 8 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 2009-10-16 2018-04-30 2018-11-22 728403 ENSG00000229549 OTTHUMG00000041531 uc004frr.3 NM_001243721 CCDS59533 P0CW00 HGNC:37471 "ENST00000287721.13|NM_001243721.2" +HGNC:37472 TSPY9 testis specific protein Y-linked 9 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 TSPY9P "testis specific protein, Y-linked 9|testis specific protein Y-linked 9, pseudogene" 2009-10-16 2021-09-24 2021-09-24 2021-09-24 728132 ENSG00000238074 OTTHUMG00000187491 uc033fep.2 NM_001396063 A0A494C1R9 HGNC:37472 +HGNC:37473 TSPY10 testis specific protein Y-linked 10 protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 2009-10-16 2018-04-30 2018-11-22 100289087 ENSG00000236424 OTTHUMG00000041524 uc033feq.1 NM_001320962 "CCDS83519|CCDS65365" P0CW01 HGNC:37473 "ENST00000428845.6|NM_001282469.3" +HGNC:23903 TSPY11P testis specific protein Y-linked 11, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 TSPYP1 "testis specific protein, Y-linked pseudogene 1|testis specific protein, Y-linked 11 (pseudogene)" 2004-04-05 2009-10-16 2018-04-30 2018-04-30 347584 ENSG00000238235 OTTHUMG00000040946 NG_003077 12815422 PGOHUM00000233895 HGNC:23903 +HGNC:23904 TSPY12P testis specific protein Y-linked 12, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 TSPYP2 "testis specific protein, Y-linked pseudogene 2|testis specific protein, Y-linked 12 (pseudogene)" 2004-04-05 2009-10-16 2018-04-30 2018-04-30 377997 ENSG00000236435 OTTHUMG00000041014 NG_003078 12815422 PGOHUM00000233682 HGNC:23904 +HGNC:23905 TSPY13P testis specific protein Y-linked 13, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 TSPYP3 "testis specific protein, Y-linked pseudogene 3|testis specific protein, Y-linked 13 (pseudogene)" 2004-04-05 2009-10-16 2018-04-30 2018-04-30 378001 ENSG00000187657 OTTHUMG00000041595 NG_003079 12815422 PGOHUM00000233719 HGNC:23905 +HGNC:23906 TSPY14P testis specific protein Y-linked 14, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 TSPYP4 "testis specific protein, Y-linked pseudogene 4|testis specific protein, Y-linked 14 (pseudogene)" 2004-04-05 2009-10-16 2018-04-30 2018-04-30 378013 ENSG00000169849 OTTHUMG00000042042 NG_003080 12815422 HGNC:23906 +HGNC:37474 TSPY15P testis specific protein Y-linked 15, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 testis specific protein, Y-linked 15 (pseudogene) 2009-10-16 2018-04-30 2018-04-30 642631 ENSG00000236786 OTTHUMG00000041526 NG_016162 HGNC:37474 +HGNC:37712 TSPY16P testis specific protein Y-linked 16, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 testis specific protein, Y-linked 16 (pseudogene) 2010-02-04 2018-04-30 2018-04-30 727969 ENSG00000226223 OTTHUMG00000041593 XM_001714044 PGOHUM00000233715 HGNC:37712 +HGNC:37713 TSPY17P testis specific protein Y-linked 17, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 testis specific protein, Y-linked 17 (pseudogene) 2010-02-04 2018-04-30 2018-04-30 100132124 ENSG00000232620 OTTHUMG00000036523 NG_029070 PGOHUM00000233900 HGNC:37713 +HGNC:37725 TSPY18P testis specific protein Y-linked 18, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 testis specific protein, Y-linked 18 (pseudogene) 2010-02-05 2018-04-30 2018-04-30 642796 ENSG00000231874 OTTHUMG00000041594 NG_016579 PGOHUM00000233926 HGNC:37725 +HGNC:37998 TSPY19P testis specific protein Y-linked 19, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 testis specific protein, Y-linked 19 (pseudogene) 2010-03-17 2018-04-30 2018-04-30 100132504 ENSG00000234583 OTTHUMG00000040953 NG_022996 PGOHUM00000233678 HGNC:37998 +HGNC:38093 TSPY20P testis specific protein Y-linked 20, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 testis specific protein, Y-linked 20 (pseudogene) 2010-04-14 2018-04-30 2018-04-30 100130848 ENSG00000243643 OTTHUMG00000041614 NG_022960 HGNC:38093 +HGNC:38101 TSPY21P testis specific protein Y-linked 21, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 testis specific protein, Y-linked 21 (pseudogene) 2010-04-16 2018-04-30 2018-04-30 100287055 ENSG00000237902 OTTHUMG00000043591 NG_022976 HGNC:38101 +HGNC:38522 TSPY22P testis specific protein Y-linked 22, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 testis specific protein, Y-linked 22 (pseudogene) 2010-06-07 2018-04-30 2018-04-30 100286996 ENSG00000229940 OTTHUMG00000043587 NG_022955 HGNC:38522 +HGNC:38594 TSPY23P testis specific protein Y-linked 23, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 testis specific protein, Y-linked 23 (pseudogene) 2010-06-28 2018-04-30 2018-04-30 100286964 ENSG00000229159 OTTHUMG00000043596 NG_029413 PGOHUM00000234023 HGNC:38594 +HGNC:38725 TSPY24P testis specific protein Y-linked 24, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 testis specific protein, Y-linked 24 (pseudogene) 2010-07-28 2018-04-30 2018-04-30 100874287 ENSG00000215601 OTTHUMG00000041266 NG_032212 HGNC:38725 +HGNC:38726 TSPY25P testis specific protein Y-linked 25, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 testis specific protein, Y-linked 25 (pseudogene) 2010-07-28 2018-04-30 2018-04-30 100874288 ENSG00000234110 OTTHUMG00000041527 NG_032213 HGNC:38726 +HGNC:16256 TSPY26P testis specific protein Y-linked 26, pseudogene pseudogene pseudogene Approved 20q11.21 20q11.21 bA392M18.1 TSPYL3 "TSPY-like 3|TSPY-like 3 (pseudogene)|testis specific protein, Y-linked 26, pseudogene" 2001-07-17 2010-10-28 2018-04-30 2021-10-07 128854 ENSG00000235217 OTTHUMG00000032212 NR_002781 Q9H489 MGI:2139328 RGD:1310192 PGOHUM00000247511 HGNC:16256 +HGNC:12382 TSPYL1 TSPY like 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 TSPYL TSPY-like 1998-04-20 2004-04-07 2016-07-01 2021-05-26 7259 ENSG00000189241 OTTHUMG00000015427 uc003pwp.5 AF042181 NM_003309 CCDS34518 Q9H0U9 9730615 MGI:1298395 RGD:1307726 LRG_862|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_862.xml 604714 173211 HGNC:12382 "ENST00000368608.4|NM_003309.4" HGNC:12382 +HGNC:24358 TSPYL2 TSPY like 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "SE20-4|HRIHFB2216|CTCL|DENTT|CDA1|CINAP|TSPX" 2004-09-30 2016-07-01 2020-04-02 64061 ENSG00000184205 OTTHUMG00000021597 uc004drw.4 AF273046 NM_022117 CCDS14350 Q9H2G4 "11318608|11395479" MGI:106244 RGD:1563283 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/TSPYL2 300564 HGNC:24358 "ENST00000375442.8|NM_022117.4" +HGNC:21559 TSPYL4 TSPY like 4 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "dJ486I3.2|KIAA0721" 2003-06-24 2016-07-01 2016-07-01 23270 ENSG00000187189 OTTHUMG00000015429 uc003pwn.4 NM_021648 CCDS5106 Q9UJ04 MGI:106393 RGD:1306653 619586 HGNC:21559 "ENST00000420283.3|NM_021648.5" +HGNC:29367 TSPYL5 TSPY like 5 protein-coding gene gene with protein product Approved 8q22.1 08q22.1 KIAA1750 Testis-specific Y-encoded-like protein 5 2004-04-05 2016-07-01 2016-12-15 85453 ENSG00000180543 OTTHUMG00000164857 uc003yhy.4 AB051537 NM_033512 CCDS34927 Q86VY4 11214970 MGI:2442458 RGD:1311262 614721 HGNC:29367 "ENST00000322128.5|NM_033512.3" +HGNC:14521 TSPYL6 TSPY like 6 protein-coding gene gene with protein product Approved 2p16.2 02p16.2 2004-08-18 2016-07-01 2018-11-22 388951 ENSG00000178021 OTTHUMG00000151823 uc002rxr.3 AK097417 NM_001003937 CCDS42682 Q8N831 MGI:1298395 HGNC:14521 "ENST00000317802.9|NM_001003937.3" +HGNC:25542 TSR1 TSR1 ribosome maturation factor protein-coding gene gene with protein product Approved 17p13.3 17p13.3 FLJ10534 "TSR1, 20S rRNA accumulation, homolog (yeast)|TSR1, ribosome maturation factor" "Ribosomal biogenesis factors|Small nucleolar RNA protein coding host genes" "1729|1835" 2005-12-16 2019-01-25 2019-03-15 55720 ENSG00000167721 OTTHUMG00000177636 uc002fuj.4 AK026565 NM_018128 CCDS32525 Q2NL82 "20805244|29875412" MGI:2144566 RGD:2322150 611214 HGNC:25542 "ENST00000301364.10|NM_018128.5" +HGNC:25455 TSR2 TSR2 ribosome maturation factor protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "DT1P1A10|RP1-112K5.2|WGG1" "WGG motif containing 1|escortin" "TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)|TSR2, ribosome maturation factor" Ribosomal biogenesis factors 1729 2006-07-03 2019-01-25 2019-02-01 90121 ENSG00000158526 OTTHUMG00000021628 uc004dte.5 BC007699 NM_058163 CCDS14358 Q969E8 9417904 MGI:1916749 RGD:1562416 300945 412855 HGNC:25455 "ENST00000375151.5|NM_058163.3" HGNC:25455 +HGNC:14175 TSR3 TSR3 ribosome maturation factor protein-coding gene gene with protein product Approved 16p13.3 16p13.3 MGC24381 C16orf42 "chromosome 16 open reading frame 42|TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)|TSR3, acp transferase ribosome maturation factor" Ribosomal biogenesis factors 1729 2000-12-21 2012-06-06 2019-02-01 2019-02-01 115939 ENSG00000007520 OTTHUMG00000047834 uc002cll.4 BC013943 NM_001001410 CCDS10435 Q9UJK0 27084949 MGI:1915577 RGD:1565744 617058 HGNC:14175 "ENST00000007390.3|NM_001001410.3" +HGNC:12384 TSSC2 tumor suppressing subtransferable candidate 2 (pseudogene) pseudogene pseudogene Approved 11p15.4 11p15.4 "tumor-supressing STF cDNA 2|asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene" "tumor suppressing subtransferable candidate 2|tumor suppressing subtransferable candidate 2 pseudogene" 1998-06-22 2020-02-11 2020-04-20 650368 ENSG00000223756 OTTHUMG00000011705 NR_024248 9403053 608999 HGNC:12384 +HGNC:12386 TSSC4 tumor suppressing subtransferable candidate 4 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 2000-04-13 2022-02-24 10078 ENSG00000184281 OTTHUMG00000009895 uc001lwk.4 AF125568 NM_005706 "CCDS7735|CCDS73241" Q9Y5U2 "10072438|34131137|35188580" MGI:1861712 RGD:1307043 603852 HGNC:12386 "ENST00000333256.11|NM_005706.4" +HGNC:11400 TSSK1A testis specific serine kinase 1A (pseudogene) pseudogene pseudogene Approved 22q11.21 22q11.21 "TSSK1|SPOGA1|TSSK1AP" "STK22A|TSSK7P" "serine/threonine kinase 22A (spermiogenesis associated)|testis-specific serine kinase 7 pseudogene|testis specific serine kinase 1A, pseudogene" 1999-10-29 2007-01-30 2020-02-11 2020-02-11 23752 ENSG00000231086 OTTHUMG00000150125 L77570 NG_004670 "10591208|23258646" MGI:1347557 PGOHUM00000246404 HGNC:11400 +HGNC:14968 TSSK1B testis specific serine kinase 1B protein-coding gene gene with protein product Approved 5q22.2 05q22.2 "SPOGA4|FKSG81" "STK22D|TSSK1" "serine/threonine kinase 22D (spermiogenesis associated)|testis-specific serine kinase 1" 2001-04-05 2007-01-30 2016-01-26 2016-01-26 83942 ENSG00000212122 OTTHUMG00000128835 uc003kqm.2 AF348076 NM_032028 CCDS4112 Q9BXA7 15044604 MGI:1347557 RGD:1307352 610709 objectId:2257 HGNC:14968 "ENST00000390666.4|NM_032028.4" +HGNC:11401 TSSK2 testis specific serine kinase 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "SPOGA2|FLJ38613" STK22B serine/threonine kinase 22B (spermiogenesis associated) 1999-10-19 2005-03-12 2016-01-26 2016-01-26 23617 ENSG00000206203 OTTHUMG00000150118 uc002zow.2 AF362953 NM_053006 CCDS13755 Q96PF2 10591208 MGI:1347559 RGD:1304951 610710 objectId:2258 HGNC:11401 "ENST00000399635.4|NM_053006.5" +HGNC:15473 TSSK3 testis specific serine kinase 3 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 SPOGA3 STK22C serine/threonine kinase 22C (spermiogenesis associated) 2001-04-02 2005-03-12 2016-01-26 2018-03-12 81629 ENSG00000162526 OTTHUMG00000007585 uc001bvf.4 AF296450 NM_052841 CCDS362 Q96PN8 "11597141|16336268" MGI:1929914 RGD:1359231 607660 objectId:2259 HGNC:15473 "ENST00000373534.4|NM_052841.4" +HGNC:19825 TSSK4 testis specific serine kinase 4 protein-coding gene gene with protein product Approved 14q12 14q12 chromosome 14 open reading frame 20 "C14orf20|STK22E" serine/threonine kinase 22E 2002-11-27 2005-03-12 2016-01-26 2020-04-20 283629 ENSG00000139908 OTTHUMG00000029323 uc001wng.4 AF542390 NM_174944 "CCDS76662|CCDS53890|CCDS9618" Q6SA08 MGI:1918349 RGD:1560814 610711 objectId:2260 HGNC:19825 "ENST00000339917.10|NM_001184739.2" +HGNC:31931 TSSK5P testis specific serine kinase 5, pseudogene pseudogene pseudogene Approved 8q24.3 08q24.3 TSSKps1 "TSSK5P2|TSSK5P1" "testis-specific serine kinase 5 pseudogene 2|testis-specific serine kinase 5 pseudogene 1" 2005-03-10 2014-06-19 2016-01-26 2020-04-20 648630 ENSG00000227473 OTTHUMG00000154993 NG_017084 MGI:1920792 HGNC:31931 +HGNC:30410 TSSK6 testis specific serine kinase 6 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "SSTK|FLJ24002|CT72" cancer/testis antigen 72 2005-03-10 2016-01-26 2020-04-01 83983 ENSG00000178093 OTTHUMG00000182146 uc002nmr.4 AK172841 NM_032037 CCDS12403 Q9BXA6 15044604 MGI:2148775 RGD:1559764 610712 objectId:2261 HGNC:30410 "ENST00000585580.4|NM_032037.4" +HGNC:12388 TST thiosulfate sulfurtransferase protein-coding gene gene with protein product Approved 22q12.3 22q12.3 RDS rhodanese thiosulfate sulfurtransferase (rhodanese) 1992-08-25 2016-01-18 2016-10-05 7263 ENSG00000128311 OTTHUMG00000150533 uc031rxn.1 Z73420 NM_001270483 CCDS13938 Q16762 1953758 MGI:98852 RGD:3913 180370 2.8.1.1 HGNC:12388 "ENST00000249042.8|NM_003312.6" +HGNC:35410 TSTD1 thiosulfate sulfurtransferase like domain containing 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 KAT thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 2009-08-12 2016-04-19 2020-04-20 100131187 ENSG00000215845 OTTHUMG00000031476 uc010pjx.3 NM_001113207 "CCDS53400|CCDS44257|CCDS44258" Q8NFU3 12817473 MGI:3648482 RGD:2323815 616041 HGNC:35410 "ENST00000423014.3|NM_001113207.2" +HGNC:30087 TSTD2 thiosulfate sulfurtransferase like domain containing 2 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 PP4189 rhodanese like domain containing 2 C9orf97 "chromosome 9 open reading frame 97|thiosulfate sulfurtransferase (rhodanese)-like domain containing 2" 2004-03-11 2009-08-12 2016-04-19 2016-04-19 158427 ENSG00000136925 OTTHUMG00000020328 uc004axn.4 AF258575 NM_139246 CCDS6727 Q5T7W7 12477932 MGI:3039624 RGD:1310893 HGNC:30087 "ENST00000341170.5|NM_139246.5" +HGNC:40910 TSTD3 thiosulfate sulfurtransferase like domain containing 3 protein-coding gene gene with protein product Approved 6q16.2 06q16.2 thiosulfate sulfurtransferase (rhodanese)-like domain containing 3 2012-07-04 2018-07-12 2020-01-06 100130890 ENSG00000279170 OTTHUMG00000015265 uc063qfw.1 NM_001195131 CCDS83109 H0UI37 MGI:1924282 RGD:1563572 HGNC:40910 "ENST00000452647.3|NM_001195131.2" +HGNC:19140 TTBK1 tau tubulin kinase 1 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 KIAA1855 Armadillo like helical domain containing 1492 2003-05-28 2014-11-19 84630 ENSG00000146216 OTTHUMG00000014725 uc003ouq.2 AB058758 NM_032538 CCDS34455 Q5TCY1 11347906 MGI:2147036 RGD:1559518 619415 objectId:2262 HGNC:19140 "ENST00000259750.9|NM_032538.3" +HGNC:19141 TTBK2 tau tubulin kinase 2 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 KIAA0847 SCA11 spinocerebellar ataxia 11 2003-05-28 2021-05-26 146057 ENSG00000128881 OTTHUMG00000175802 uc001zqo.4 AB020654 NM_173500 CCDS42029 Q6IQ55 10048485 MGI:2155779 RGD:1311661 611695 159341 objectId:2263 HGNC:19141 "ENST00000267890.11|NM_173500.4" HGNC:19141 +HGNC:55598 TTBK2-AS1 TTBK2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q15.2 15q15.2 Antisense RNAs 1987 2021-04-30 2021-04-30 121676926 ENSG00000246283 +HGNC:12391 TTC1 tetratricopeptide repeat domain 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 TPR1 Tetratricopeptide repeat domain containing 769 1997-12-12 2016-10-05 7265 ENSG00000113312 OTTHUMG00000130326 uc003lxu.5 U46570 NM_003314 CCDS4348 Q99614 8836031 MGI:1914077 RGD:1359604 601963 HGNC:12391 "ENST00000231238.10|NM_003314.3" +HGNC:12393 TTC3 tetratricopeptide repeat domain 3 protein-coding gene gene with protein product Approved 21q22.13 21q22.13 "TPRD|TPRDI|DCRR1|TPRDII|TPRDIII|RNF105" "Ring finger proteins|Tetratricopeptide repeat domain containing" "58|769" 1998-02-11 2021-09-29 7267 ENSG00000182670 OTTHUMG00000086654 uc002yvz.4 D84296 NM_001320703 CCDS13651 P53804 8947847 MGI:1276539 RGD:1308654 602259 HGNC:12393 +HGNC:40595 TTC3-AS1 TTC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.13 21q22.13 TTC3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100874006 ENSG00000228677 OTTHUMG00000086658 uc062aaf.1 BF979681 NR_046651 TTC3-AS1 HGNC:40595 +HGNC:23318 TTC3P1 tetratricopeptide repeat domain 3 pseudogene 1 pseudogene pseudogene Approved Xq13.3 Xq13.3 RNF105L TTC3L tetratricopeptide repeat domain 3-like 2005-04-07 2010-10-15 2010-10-15 2016-10-05 286495 ENSG00000215105 OTTHUMG00000021869 XR_017027 PGOHUM00000241403 HGNC:23318 +HGNC:12394 TTC4 tetratricopeptide repeat domain 4 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "MGC5097|FLJ41930|CNS1" Tetratricopeptide repeat domain containing 769 1998-08-26 2017-05-19 7268 ENSG00000243725 OTTHUMG00000009914 uc001cxx.5 NM_004623 CCDS596 O95801 9933562 MGI:1919604 RGD:1308529 606753 HGNC:12394 "ENST00000371281.4|NM_004623.5" +HGNC:12395 TTC4P1 tetratricopeptide repeat domain 4 pseudogene 1 pseudogene pseudogene Approved 7p12.3 07p12.3 TTC4P tetratricopeptide repeat domain 4, pseudogene 1999-10-19 2010-04-19 2010-04-19 2020-04-20 222052 ENSG00000221971 OTTHUMG00000154753 NG_021385 PGOHUM00000232681 HGNC:12395 +HGNC:19274 TTC5 tetratricopeptide repeat domain 5 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 Strap Stress-responsive activator of p300 Tetratricopeptide repeat domain containing 769 2003-11-25 2022-03-22 91875 ENSG00000136319 OTTHUMG00000029506 uc001vwt.5 BC008647 NM_138376 CCDS9546 Q8N0Z6 "11511361|32439809|31727855" MGI:2683584 RGD:1311284 619014 HGNC:19274 "ENST00000258821.8|NM_138376.3" HGNC:19274 +HGNC:19739 TTC6 tetratricopeptide repeat domain 6 protein-coding gene gene with protein product Approved 14q21.1 14q21.1 "NCRNA00291|C14orf25" "non-protein coding RNA 291|chromosome 14 open reading frame 25" Tetratricopeptide repeat domain containing 769 2002-11-20 2020-04-20 319089 ENSG00000139865 OTTHUMG00000157369 uc001wuj.4 BC014342 NM_001310135 Q86TZ1 MGI:1918096 RGD:1560556 HGNC:19739 +HGNC:19750 TTC7A tetratricopeptide repeat domain 7A protein-coding gene gene with protein product Approved 2p21 02p21 KIAA1140 TTC7 tetratricopeptide repeat domain 7 "Tetratricopeptide repeat domain containing|PI4KA lipid kinase complex" "769|1588" 2002-11-25 2004-06-02 2004-06-02 2022-03-22 57217 ENSG00000068724 OTTHUMG00000153121 uc002rvo.4 AB032966 NM_001288951 "CCDS74510|CCDS33193|CCDS74511" Q9ULT0 "10574461|23423984|30553809" MGI:1920999 RGD:1306211 LRG_1323|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1323.xml 609332 353460 HGNC:19750 "ENST00000319190.11|NM_020458.4" HGNC:19750 +HGNC:19858 TTC7B tetratricopeptide repeat domain 7B protein-coding gene gene with protein product Approved 14q32.11 14q32.11 TTC7L1 tetratricopeptide repeat domain 7 like 1 "Tetratricopeptide repeat domain containing|PI4KA lipid kinase complex" "769|1588" 2002-11-27 2004-06-04 2004-06-02 2017-03-21 145567 ENSG00000165914 OTTHUMG00000171047 uc001xyp.4 BC035865 NM_001010854 CCDS32140 Q86TV6 MGI:2144724 RGD:1305920 HGNC:19858 "ENST00000328459.11|NM_001010854.2" +HGNC:56196 TTC7B-AS1 TTC7B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q32.11 14q32.11 Antisense RNAs 1987 2022-01-31 2022-01-31 101928909 ENSG00000259163 NR_110134 +HGNC:20087 TTC8 tetratricopeptide repeat domain 8 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "BBS8|RP51" "Tetratricopeptide repeat domain containing|BBSome" "769|1122" 2002-12-17 2020-04-01 123016 ENSG00000165533 OTTHUMG00000170884 uc059edo.1 AK093891 NM_144596 "CCDS9886|CCDS32137|CCDS73675|CCDS73674|CCDS9885" Q8TAM2 "14520415|20451172" MGI:1923510 RGD:1307769 608132 120323 HGNC:20087 "ENST00000380656.7|NM_144596.4" HGNC:20087 +HGNC:20267 TTC9 tetratricopeptide repeat domain 9 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "KIAA0227|TTC9A" Tetratricopeptide repeat domain containing 769 2003-11-25 2018-11-22 23508 ENSG00000133985 OTTHUMG00000172133 uc001xmi.2 D86980 NM_015351 CCDS45132 Q92623 MGI:1916730 RGD:1565985 610488 HGNC:20267 "ENST00000256367.3|NM_015351.2" +HGNC:53243 TTC9-DT TTC9 divergent transcript non-coding RNA RNA, long non-coding Approved 14q24.2 14q24.2 Divergent transcripts 1990 2021-01-08 2021-01-08 101928075 ENSG00000245466 OTTHUMG00000171332 NR_110071 +HGNC:26395 TTC9B tetratricopeptide repeat domain 9B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ30373 Tetratricopeptide repeat domain containing 769 2005-10-07 2019-08-20 148014 ENSG00000174521 OTTHUMG00000182600 uc002onc.3 BC029539 NM_152479 CCDS12550 Q8N6N2 MGI:1920282 RGD:1306256 HGNC:26395 "ENST00000311308.7|NM_152479.6" +HGNC:28432 TTC9C tetratricopeptide repeat domain 9C protein-coding gene gene with protein product Approved 11q12.3 11q12.3 MGC29649 Tetratricopeptide repeat domain containing 769 2005-10-07 2014-11-19 283237 ENSG00000162222 OTTHUMG00000167607 uc001nuy.4 BC032123 NM_173810 CCDS8033 Q8N5M4 MGI:1917637 RGD:1359253 HGNC:28432 "ENST00000316461.9|NM_173810.4" +HGNC:23700 TTC12 tetratricopeptide repeat domain 12 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 "FLJ13859|FLJ20535|TPARM" tetratricopeptide repeat and armadillo repeat protein "Tetratricopeptide repeat domain containing|Armadillo like helical domain containing" "769|1492" 2003-12-02 2022-03-22 54970 ENSG00000149292 OTTHUMG00000142832 uc001pnu.3 AK000542 NM_017868 "CCDS8360|CCDS81627" Q9H892 "12964006|31978331" MGI:2444588 RGD:1303264 610732 HGNC:23700 "ENST00000529221.6|NM_017868.4" HGNC:23700 +HGNC:55508 TTC12-DT TTC12 divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.2 11q23.2 Divergent transcripts 1990 2021-03-17 2021-03-17 120883617 ENSG00000255129 +HGNC:26204 TTC13 tetratricopeptide repeat domain 13 protein-coding gene gene with protein product Approved 1q42.2 01q42.2 FLJ22584 Tetratricopeptide repeat domain containing 769 2003-12-22 2016-04-25 79573 ENSG00000143643 OTTHUMG00000037788 uc001huf.5 NM_024525 "CCDS44332|CCDS1588" Q8NBP0 MGI:2384573 RGD:1310186 HGNC:26204 "ENST00000366661.9|NM_024525.5" +HGNC:24697 TTC14 tetratricopeptide repeat domain 14 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "FLJ00166|KIAA1980" Tetratricopeptide repeat domain containing 769 2003-12-22 2016-10-05 151613 ENSG00000163728 OTTHUMG00000157859 uc003fkk.4 AB075860 NM_133462 "CCDS3237|CCDS75055|CCDS46963" Q96N46 11853319 MGI:1914370 RGD:1310045 HGNC:24697 "ENST00000296015.9|NM_133462.4" +HGNC:52912 TTC14-DT TTC14 divergent transcript non-coding RNA RNA, long non-coding Approved 3q26.33 03q26.33 Divergent transcripts 1990 2021-06-25 2021-06-25 101928856 ENSG00000239774 OTTHUMG00000157861 XR_002959660 +HGNC:26536 TTC16 tetratricopeptide repeat domain 16 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 FLJ32780 Tetratricopeptide repeat domain containing 769 2004-01-06 2016-10-05 158248 ENSG00000167094 OTTHUMG00000020711 uc004brq.2 AK057342 NM_144965 CCDS6875 Q8NEE8 12477932 MGI:2443048 RGD:2318922 HGNC:26536 "ENST00000373289.4|NM_144965.3" +HGNC:25596 TTC17 tetratricopeptide repeat domain 17 protein-coding gene gene with protein product Approved 11p12-p11.2 11p12-p11.2 FLJ10890 Tetratricopeptide repeat domain containing 769 2004-01-08 2022-01-11 55761 ENSG00000052841 OTTHUMG00000166398 uc001mxi.4 AK001540 NM_018259 "CCDS31466|CCDS76396" Q96AE7 "24475127|31488582" MGI:1921819 RGD:1305410 619388 HGNC:25596 "ENST00000039989.9|NM_018259.6" +HGNC:26006 TTC19 tetratricopeptide repeat domain 19 protein-coding gene gene with protein product Approved 17p12 17p12 "FLJ20343|MGC19520" Tetratricopeptide repeat protein 19, mitochondrial "Mitochondrial respiratory chain complex assembly factors|Tetratricopeptide repeat domain containing" "645|769" 2004-08-27 2022-03-22 54902 ENSG00000011295 OTTHUMG00000059306 uc002gph.4 AK094819 NM_017775 CCDS11174 Q6DKK2 "21278747|24368687" MGI:1920045 RGD:1582808 613814 260358 HGNC:26006 "ENST00000261647.10|NM_017775.4" HGNC:26006 +HGNC:30761 TTC21A tetratricopeptide repeat domain 21A protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "STI2|IFT139A|Thm2" Stress-inducible protein 2 "Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes|IFT-A complex" "769|1691|1978" 2005-01-26 2022-03-25 199223 ENSG00000168026 OTTHUMG00000155973 uc003cjc.3 AJ487015 NM_145755 "CCDS43068|CCDS46800" Q8NDW8 "32167205|12543795|30929735" MGI:1921302 RGD:1308806 611430 HGNC:30761 "ENST00000683103.1|NM_001366900.1" HGNC:30761 +HGNC:25660 TTC21B tetratricopeptide repeat domain 21B protein-coding gene gene with protein product Approved 2q24.3 02q24.3 "FLJ11457|JBTS11|NPHP12|IFT139B|THM1|FAP60|FLA17|IFT139" "intraflagellar transport 139 homolog|tetratricopeptide repeat-containing hedgehog modulator-1|Nephronophthisis type12" "Tetratricopeptide repeat domain containing|IFT-A complex" "769|1978" 2005-01-26 2022-03-25 79809 ENSG00000123607 OTTHUMG00000154083 uc002udk.4 AB082523 NM_024753 CCDS33315 Q7Z4L5 "12056414|21258341" MGI:1920918 RGD:1565122 612014 260351 HGNC:25660 "ENST00000243344.8|NM_024753.5" HGNC:25660 +HGNC:41115 TTC21B-AS1 TTC21B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.3 02q24.3 Antisense RNAs 1987 2013-10-15 2014-11-19 100506134 ENSG00000224490 OTTHUMG00000154082 NR_038983 TTC21B-AS1 HGNC:41115 +HGNC:26067 TTC22 tetratricopeptide repeat domain 22 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ20619 Tetratricopeptide repeat domain containing 769 2005-08-12 2014-11-19 55001 ENSG00000006555 OTTHUMG00000009916 uc001cxz.5 AK000626 NM_017904 "CCDS598|CCDS44152" Q5TAA0 MGI:3045307 RGD:1561518 HGNC:26067 "ENST00000371276.9|NM_001114108.2" +HGNC:25730 TTC23 tetratricopeptide repeat domain 23 protein-coding gene gene with protein product Approved 15q26.3 15q26.3 "FLJ12572|HCC-8" Tetratricopeptide repeat domain containing 769 2005-08-12 2022-01-10 64927 ENSG00000103852 OTTHUMG00000147344 uc010bor.5 NM_022905 CCDS10379 Q5W5X9 32055034 MGI:1914259 RGD:1310409 HGNC:25730 "ENST00000394132.7|NM_001288615.3" +HGNC:26355 TTC23L tetratricopeptide repeat domain 23 like protein-coding gene gene with protein product Approved 5p13.2 05p13.2 FLJ25439 tetratricopeptide repeat domain 23-like 2008-07-14 2016-01-29 2016-01-29 153657 ENSG00000205838 OTTHUMG00000162020 uc003jiu.4 NM_144725 CCDS54840 Q6PF05 25751302 MGI:1923027 RGD:1564928 616344 HGNC:26355 +HGNC:55215 TTC23L-AS1 TTC23L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5p13.2 05p13.2 Antisense RNAs 1987 2020-08-21 2020-08-21 101929704 ENSG00000272323 XR_241754 +HGNC:32348 TTC24 tetratricopeptide repeat domain 24 protein-coding gene gene with protein product Approved 1q22 01q22 Tetratricopeptide repeat domain containing 769 2005-12-14 2018-11-22 164118 ENSG00000187862 OTTHUMG00000033202 uc021pbf.1 NM_001105669 CCDS53379 A2A3L6 MGI:2443841 RGD:2319887 HGNC:32348 "ENST00000368236.8|NM_001105669.4" +HGNC:21882 TTC26 tetratricopeptide repeat domain 26 protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ12571|dyf-13|DYF13|IFT56" "Tetratricopeptide repeat domain containing|IFT-B1 complex" "769|1980" 2006-03-17 2015-08-06 79989 ENSG00000105948 OTTHUMG00000157472 uc003vus.4 AK022633 NM_024926 "CCDS5852|CCDS75665|CCDS55172|CCDS55173|CCDS83230" A0AVF1 MGI:2444853 RGD:1561363 617453 HGNC:21882 "ENST00000464848.5|NM_024926.4" +HGNC:25986 TTC27 tetratricopeptide repeat domain 27 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 FLJ20272 "Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes" "769|1691" 2006-05-15 2014-11-19 55622 ENSG00000018699 OTTHUMG00000152134 uc002rom.4 "BC063791|AK000279" NM_017735 CCDS33176 Q6P3X3 MGI:1921446 RGD:1305264 HGNC:25986 "ENST00000317907.9|NM_017735.5" +HGNC:29179 TTC28 tetratricopeptide repeat domain 28 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 KIAA1043 Tetratricopeptide repeat domain containing 769 2006-07-11 2018-11-22 23331 ENSG00000100154 OTTHUMG00000151006 uc003adp.4 AB028966 NM_001145418 CCDS46678 Q96AY4 10470851 MGI:2140873 RGD:1594541 615098 HGNC:29179 "ENST00000397906.7|NM_001145418.2" +HGNC:29336 TTC28-AS1 TTC28 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 KIAA1648 "TTC28AS|TTC28-AS" "TTC28 antisense RNA (non-protein coding)|TTC28 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-07-08 2010-11-25 2012-08-15 2014-11-19 284900 ENSG00000235954 OTTHUMG00000150973 uc003ado.5 NR_026962 11258795 TTC28-AS1 HGNC:29336 +HGNC:29936 TTC29 tetratricopeptide repeat domain 29 protein-coding gene gene with protein product Approved 4q31.22 04q31.22 NYD-SP14 Tetratricopeptide repeat domain containing 769 2006-07-11 2022-03-22 83894 ENSG00000137473 OTTHUMG00000162047 uc003ikw.5 AF345910 NM_031956 "CCDS82965|CCDS75200|CCDS47141" Q8NA56 "22878202|31735292" MGI:1920551 RGD:1589777 618735 HGNC:29936 "ENST00000325106.9|NM_031956.4" HGNC:29936 +HGNC:25853 TTC30A tetratricopeptide repeat domain 30A protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "FLJ13946|IFT70A|FAP259" "Tetratricopeptide repeat domain containing|IFT-B1 complex" "769|1980" 2006-07-11 2020-01-28 92104 ENSG00000197557 OTTHUMG00000132528 uc002ulo.4 AK024008 NM_152275 CCDS2276 Q86WT1 20534810 "MGI:1926052|MGI:3700200" RGD:1560121 HGNC:25853 "ENST00000355689.6|NM_152275.4" +HGNC:26425 TTC30B tetratricopeptide repeat domain 30B protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "FLJ30990|fleer|IFT70B" "Tetratricopeptide repeat domain containing|IFT-B1 complex" "769|1980" 2006-07-11 2019-03-20 150737 ENSG00000196659 OTTHUMG00000154166 uc002uln.4 AK055552 NM_152517 CCDS42784 Q8N4P2 23810713 MGI:1919671 RGD:1590784 HGNC:26425 "ENST00000408939.4|NM_152517.3" +HGNC:25759 TTC31 tetratricopeptide repeat domain 31 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 FLJ12788 Tetratricopeptide repeat domain containing 769 2006-07-11 2019-03-20 64427 ENSG00000115282 OTTHUMG00000152887 uc002slt.3 AK026819 NM_022492 CCDS42701 Q49AM3 21790010 HGNC:25759 "ENST00000233623.11|NM_022492.6" +HGNC:32954 TTC32 tetratricopeptide repeat domain 32 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 Tetratricopeptide repeat domain containing 769 2006-07-11 2014-11-19 130502 ENSG00000183891 OTTHUMG00000151776 uc002rdg.4 BC057850 NM_001008237 CCDS33151 Q5I0X7 MGI:1922766 RGD:1585566 HGNC:32954 "ENST00000333610.4|NM_001008237.3" +HGNC:55236 TTC32-DT TTC32 divergent transcript non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 Divergent transcripts 1990 2020-09-16 2020-09-16 118597834 ENSG00000271991 +HGNC:29959 TTC33 tetratricopeptide repeat domain 33 protein-coding gene gene with protein product Approved 5p13.1 05p13.1 OSRF osmosis responsive factor Tetratricopeptide repeat domain containing 769 2006-08-24 2014-11-19 23548 ENSG00000113638 OTTHUMG00000131142 uc003jma.4 BC015701 NM_012382 CCDS3931 Q6PID6 12477932 MGI:1914765 RGD:1564042 HGNC:29959 "ENST00000337702.5|NM_012382.3" +HGNC:34297 TTC34 tetratricopeptide repeat domain 34 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 Tetratricopeptide repeat domain containing 769 2008-06-11 2020-04-20 100287898 ENSG00000215912 OTTHUMG00000000539 uc057bor.2 NM_001242672 CCDS55565 A8MYJ7 MGI:2445205 RGD:1304840 HGNC:34297 +HGNC:33708 TTC36 tetratricopeptide repeat domain 36 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 HBP21 HSP70 binding protein 21 Tetratricopeptide repeat domain containing 769 2008-04-15 2015-08-26 143941 ENSG00000172425 OTTHUMG00000166338 uc001ptg.2 EU489483 NM_001080441 CCDS31687 A6NLP5 MGI:2384760 RGD:1359544 HGNC:33708 "ENST00000302783.10|NM_001080441.4" +HGNC:55495 TTC36-AS1 TTC36 and KMT2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 Antisense RNAs 1987 2021-03-15 2021-03-15 101929089 ENSG00000255435 NR_120572 +HGNC:23639 TTC37 tetratricopeptide repeat domain 37 protein-coding gene gene with protein product Approved 5q15 05q15 "THES|SKI3" "thespin|SKI complex component SKI3 (S. cerevisiae)" KIAA0372 KIAA0372 "Tetratricopeptide repeat domain containing|SKI complex subunits" "769|2119" 2003-12-17 2008-06-11 2008-06-11 2022-03-09 9652 ENSG00000198677 OTTHUMG00000121165 uc003klb.4 AB002370 NM_014639 CCDS4072 Q6PGP7 "9205841|20176027" MGI:2679923 RGD:1306062 LRG_173|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_173.xml 614589 238544 HGNC:23639 "ENST00000358746.7|NM_014639.4" HGNC:23639 +HGNC:26082 TTC38 tetratricopeptide repeat domain 38 protein-coding gene gene with protein product Approved 22q13.31 22q13.31 FLJ20699 Tetratricopeptide repeat domain containing 769 2008-06-11 2016-10-05 55020 ENSG00000075234 OTTHUMG00000150494 uc003bhi.3 NM_017931 CCDS43030 Q5R3I4 MGI:2146198 RGD:1306041 HGNC:26082 "ENST00000381031.8|NM_017931.4" +HGNC:18657 TTC39A tetratricopeptide repeat domain 39A protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "KIAA0452|DEME-6" C1orf34 chromosome 1 open reading frame 34 Tetratricopeptide repeat domain containing 769 2002-05-29 2008-06-23 2008-06-23 2015-08-26 22996 ENSG00000085831 OTTHUMG00000008193 uc001csl.4 AB007921 NM_001080494 "CCDS72790|CCDS44143|CCDS44144|CCDS76162|CCDS72789|CCDS76163" Q5SRH9 "9455484|9461476" MGI:2444350 RGD:1311126 HGNC:18657 "ENST00000680483.1|NM_001297663.2" +HGNC:40851 TTC39A-AS1 TTC39A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Antisense RNAs 1987 2014-02-02 2014-11-19 102724097 ENSG00000261664 OTTHUMG00000008189 CB128747 NR_123731 TTC39A-AS1 HGNC:40851 +HGNC:23704 TTC39B tetratricopeptide repeat domain 39B protein-coding gene gene with protein product Approved 9p22.3 09p22.3 FLJ33868 C9orf52 chromosome 9 open reading frame 52 Tetratricopeptide repeat domain containing 769 2003-12-02 2008-06-23 2008-06-23 2016-10-05 158219 ENSG00000155158 OTTHUMG00000019581 uc003zlr.3 AK091187 NM_152574 CCDS55294 Q5VTQ0 MGI:1917113 RGD:1305797 613574 HGNC:23704 +HGNC:26595 TTC39C tetratricopeptide repeat domain 39C protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "FLJ33761|HsT2697" C18orf17 chromosome 18 open reading frame 17 Tetratricopeptide repeat domain containing 769 2004-05-04 2008-06-23 2008-06-23 2014-11-18 125488 ENSG00000168234 OTTHUMG00000179403 uc002kuu.4 AK091080 NM_153211 "CCDS77165|CCDS58616|CCDS32804|CCDS45839" Q8N584 14702039 MGI:1919997 RGD:1585423 HGNC:26595 "ENST00000317571.8|NM_001135993.2" +HGNC:51321 TTC39C-AS1 TTC39C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q11.2 18q11.2 Antisense RNAs 1987 2014-10-02 2014-10-02 102724246 ENSG00000264745 OTTHUMG00000179404 "DB448536|DB513641|BX102499" NR_110796 TTC39C-AS1 HGNC:51321 +HGNC:44019 TTC39CP1 tetratricopeptide repeat domain 39C pseudogene 1 pseudogene pseudogene Approved 4q26 04q26 2012-05-28 2012-05-28 100288825 ENSG00000250627 OTTHUMG00000161074 NG_022030 PGOHUM00000245667 HGNC:44019 +HGNC:35451 TTC39DP tetratricopeptide repeat domain 39D, pseudogene pseudogene pseudogene Approved 2p22.1 02p22.1 2010-08-19 2020-08-14 646640 ENSG00000227238 OTTHUMG00000153484 NG_021561 MGI:1914987 PGOHUM00000240625 HGNC:35451 +HGNC:49210 TTC41P tetratricopeptide repeat domain 41, pseudogene pseudogene pseudogene Approved 12q23.3 12q23.3 GNNP 2015-04-10 2015-04-10 253724 ENSG00000214198 OTTHUMG00000170097 NR_027249 Q6P2S7 MGI:2387653 HGNC:49210 +HGNC:12397 TTF1 transcription termination factor 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 transcription termination factor, RNA polymerase I Myb/SANT domain containing 532 1996-05-13 2016-05-24 2016-10-05 7270 ENSG00000125482 OTTHUMG00000020836 uc004cbl.5 BC050734 NM_007344 "CCDS6948|CCDS75925" Q15361 7597036 MGI:105044 RGD:1565673 600777 HGNC:12397 "ENST00000334270.3|NM_007344.4" +HGNC:12398 TTF2 transcription termination factor 2 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 "HuF2|ZGRF6" "zinc finger, GRF-type containing 6|transcription release factor 2" transcription termination factor, RNA polymerase II "Zinc fingers GRF-type|MicroRNA protein coding host genes" "135|1691" 1998-10-14 2016-05-24 2016-05-24 8458 ENSG00000116830 OTTHUMG00000012030 uc001egy.4 AF073771 NM_003594 CCDS892 Q9UNY4 "9748214|10455150" MGI:1921294 RGD:1309145 604718 HGNC:12398 "ENST00000369466.9|NM_003594.4" +HGNC:29029 TTI1 TELO2 interacting protein 1 protein-coding gene gene with protein product Approved 20q11.23 20q11.23 smg-10 smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans) KIAA0406 "KIAA0406|Tel2 interacting protein 1 homolog (S. pombe)" "TTT complex|Armadillo like helical domain containing" "1320|1492" 2006-05-19 2010-06-22 2011-11-10 2014-11-19 9675 ENSG00000101407 OTTHUMG00000032433 uc002xhm.4 BC013121 NM_014657 CCDS13300 O43156 "9455477|20427287|20371770" MGI:1922675 RGD:1562582 614425 HGNC:29029 "ENST00000373447.8|NM_001303457.2" HGNC:29029 +HGNC:26262 TTI2 TELO2 interacting protein 2 protein-coding gene gene with protein product Approved 8p12 08p12 FLJ23263 C8orf41 "chromosome 8 open reading frame 41|Tel2 interacting protein 2 homolog (S. pombe)" "TTT complex|Armadillo like helical domain containing" "1320|1492" 2005-07-28 2011-09-22 2011-11-10 2021-05-26 80185 ENSG00000129696 OTTHUMG00000163956 uc003xjn.2 AK026916 NM_025115 "CCDS6090|CCDS83276" Q6NXR4 "20801936|20810650" MGI:2384576 RGD:1310414 614426 392264 HGNC:26262 "ENST00000431156.7|NM_001102401.4" HGNC:26262 +HGNC:12401 TTK TTK protein kinase protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "MPS1|MPS1L1|CT96|MPH1" "cancer/testis antigen 96|monopolar spindle 1 kinase" 1995-07-11 2015-08-26 7272 ENSG00000112742 OTTHUMG00000015088 uc003pjb.5 NM_001166691 "CCDS4993|CCDS55040" P33981 1639825 MGI:1194921 RGD:1305558 604092 objectId:2264 HGNC:12401 "ENST00000369798.7|NM_003318.5" +HGNC:21586 TTL tubulin tyrosine ligase protein-coding gene gene with protein product Approved 2q14.1 02q14.1 MGC46235 Tubulin tyrosine ligase family 779 2004-01-13 2016-10-05 150465 ENSG00000114999 OTTHUMG00000131316 uc002thu.4 NM_153712 CCDS2096 Q8NG68 11431336 MGI:1916987 RGD:621113 608291 6.3.2.25 HGNC:21586 "ENST00000233336.7|NM_153712.5" +HGNC:1312 TTLL1 TTL family tubulin polyglutamylase complex subunit L1 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "PGs3|TPGS3" polyglutamylase subunit 3 C22orf7 "tubulin tyrosine ligase-like 1|tubulin tyrosine ligase-like family member 1|tubulin tyrosine ligase like 1" "Tubulin tyrosine ligase family|Tubulin polyglutamylase complex subunits" "779|2117" 2000-03-29 2021-12-09 2022-01-06 25809 ENSG00000100271 OTTHUMG00000150699 uc003bdi.5 AL096886 NM_012263 CCDS14043 O95922 "10591208|11054573|15890843" MGI:2443047 RGD:1309124 608955 HGNC:1312 "ENST00000266254.12|NM_012263.5" +HGNC:40111 TTLL1-AS1 TTLL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q13.2 22q13.2 Antisense RNAs 1987 2020-04-01 2020-04-01 100506679 ENSG00000230319 OTTHUMG00000150695 NR_125362 +HGNC:21211 TTLL2 tubulin tyrosine ligase like 2 protein-coding gene gene with protein product Approved 6q27 06q27 "NYD-TSPG|dJ366N23.3" C6orf104 "chromosome 6 open reading frame 104|tubulin tyrosine ligase-like family member 2" Tubulin tyrosine ligase family 779 2003-11-25 2004-01-14 2015-11-19 2015-11-19 83887 ENSG00000120440 OTTHUMG00000016023 uc003qvs.2 AK093039 NM_031949 CCDS5301 Q9BWV7 11054573 MGI:3644030 RGD:1305200 HGNC:21211 "ENST00000239587.10|NM_031949.5" +HGNC:24483 TTLL3 tubulin tyrosine ligase like 3 protein-coding gene gene with protein product Approved 3p25.3 03p25.3 "DKFZP434B103|HOTTL" tubulin tyrosine ligase-like family member 3 Tubulin tyrosine ligase family 779 2004-01-13 2015-11-19 2016-04-25 26140 ENSG00000214021 OTTHUMG00000128439 uc003btg.5 NM_001025930.2 CCDS43048 Q9Y4R7 11054573 MGI:2141418 RGD:1311255 619195 HGNC:24483 "ENST00000685419.1|NM_001387446.1" +HGNC:28976 TTLL4 tubulin tyrosine ligase like 4 protein-coding gene gene with protein product Approved 2q35 02q35 KIAA0173 tubulin tyrosine ligase-like family member 4 Tubulin tyrosine ligase family 779 2004-03-11 2015-11-19 2020-11-06 9654 ENSG00000135912 OTTHUMG00000133081 uc002viy.4 NM_014640 CCDS2422 Q14679 "11054573|18045879|20442285|32792670" MGI:1914784 RGD:1594742 618738 HGNC:28976 "ENST00000392102.6|NM_014640.5" +HGNC:19963 TTLL5 tubulin tyrosine ligase like 5 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 tubulin polyglutamylase TTLL5 KIAA0998 "KIAA0998|tubulin tyrosine ligase-like family member 5" Tubulin tyrosine ligase family 779 2003-11-21 2005-07-29 2015-11-19 2021-05-26 23093 ENSG00000119685 OTTHUMG00000171611 uc001xrx.4 AF107885 NM_015072 CCDS32124 Q6EMB2 "15890843|27162334" MGI:2443657 RGD:1563583 612268 442634 HGNC:19963 "ENST00000298832.14|NM_015072.5" HGNC:19963 +HGNC:26664 TTLL6 tubulin tyrosine ligase like 6 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 FLJ35808 tubulin tyrosine ligase-like family member 6 Tubulin tyrosine ligase family 779 2006-01-24 2015-11-19 2018-08-14 284076 ENSG00000170703 OTTHUMG00000156978 uc060gxc.1 AK093127 NM_173623 "CCDS45724|CCDS11537" Q8N841 15890843 MGI:2683461 RGD:1311922 610849 HGNC:26664 "ENST00000393382.8|NM_001130918.3" +HGNC:26242 TTLL7 tubulin tyrosine ligase like 7 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FLJ23033 tubulin tyrosine ligase-like family member 7 Tubulin tyrosine ligase family 779 2005-07-28 2015-11-19 2018-08-14 79739 ENSG00000137941 OTTHUMG00000009932 uc001djc.4 AY170843 NM_024686 CCDS690 Q6ZT98 15890843 MGI:1918142 RGD:1566117 618813 HGNC:26242 "ENST00000260505.13|NM_024686.6" +HGNC:41486 TTLL7-IT1 TTLL7 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 TTLL7 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874314 ENSG00000233061 OTTHUMG00000009973 uc057hyj.1 NR_046841 TTLL7-IT1 +HGNC:34000 TTLL8 tubulin tyrosine ligase like 8 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 tubulin tyrosine ligase-like family member 8 Tubulin tyrosine ligase family 779 2008-02-21 2015-11-19 2015-11-19 164714 ENSG00000138892 OTTHUMG00000150241 uc062fiw.1 NM_001080447 A6PVC2 15890843 MGI:1922902 RGD:1306462 619193 HGNC:34000 +HGNC:16118 TTLL9 tubulin tyrosine ligase like 9 protein-coding gene gene with protein product Approved 20q11 20q11 dJ310O13.1 C20orf125 "chromosome 20 open reading frame 125|tubulin tyrosine ligase-like family member 9" Tubulin tyrosine ligase family 779 2001-07-17 2005-07-28 2015-11-19 2019-08-20 164395 ENSG00000131044 OTTHUMG00000186843 uc002wwy.2 AL031658 NM_001008409 CCDS42863 Q3SXZ7 15890843 MGI:1913589 RGD:1359622 HGNC:16118 "ENST00000535842.6|NM_001008409.5" HGNC:16118 +HGNC:26693 TTLL10 tubulin tyrosine ligase like 10 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 FLJ36119 TTLL5 "tubulin tyrosine ligase-like family, member 5|tubulin tyrosine ligase-like family member 10" Tubulin tyrosine ligase family 779 2005-07-13 2005-07-29 2015-11-19 2015-11-19 254173 ENSG00000162571 OTTHUMG00000000851 uc010nyg.2 AK093438 NM_153254 "CCDS8|CCDS44036" Q6ZVT0 15890843 MGI:1921855 RGD:1560839 HGNC:26693 "ENST00000379289.6|NM_001130045.2" +HGNC:41159 TTLL10-AS1 TTLL10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.33 01p36.33 TTLL10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2014-11-19 100506376 ENSG00000205231 OTTHUMG00000000850 uc001acx.2 AK128833 NR_173246 TTLL10-AS1 HGNC:41159 +HGNC:18113 TTLL11 tubulin tyrosine ligase like 11 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 bA244O19.1 "C9orf20|TTLL11-IT1|C9orf148" "chromosome 9 open reading frame 20|tubulin tyrosine ligase-like family member 11|TTLL11 intronic transcript 1|chromosome 9 open reading frame 148|TTLL11 intronic transcript 1 (non-protein coding)" Tubulin tyrosine ligase family 779 2002-01-31 2005-07-28 2016-04-19 2021-01-20 158135 ENSG00000175764 OTTHUMG00000020597 uc011lyl.3 AF521886 NM_001139442 "CCDS6834|CCDS48012" Q8NHH1 15890843 MGI:1921660 RGD:1588742 HGNC:18113 "ENST00000321582.11|NM_001139442.2" +HGNC:28974 TTLL12 tubulin tyrosine ligase like 12 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 KIAA0153 tubulin tyrosine ligase-like family member 12 Tubulin tyrosine ligase family 779 2006-02-02 2015-11-19 2016-10-05 23170 ENSG00000100304 OTTHUMG00000150682 uc003bdq.4 D63487 NM_015140 CCDS14047 Q14166 15890843 MGI:3039573 RGD:1305319 619410 HGNC:28974 "ENST00000216129.7|NM_015140.4" +HGNC:32484 TTLL13 tubulin tyrosine ligase like 13 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "FLJ46079|MGC33417" TTLL13P "tubulin tyrosine ligase-like family, member 13|tubulin tyrosine ligase-like family member 13, pseudogene|tubulin tyrosine ligase like 13, pseudogene" Tubulin tyrosine ligase family 779 2006-02-02 2021-09-29 2021-09-29 2021-09-29 440307 ENSG00000213471 OTTHUMG00000177210 BC036668 NM_001396017 A6NNM8 15890843 MGI:1920845 RGD:1310399 HGNC:32484 +HGNC:12403 TTN titin protein-coding gene gene with protein product Approved 2q31.2 02q31.2 "CMPD4|FLJ32040|TMD|CMH9|LGMD2J|MYLK5" CMD1G cardiomyopathy, dilated 1G (autosomal dominant) "Fibronectin type III domain containing|I-set domain containing|Myosin light chain kinase family" "555|593|1668" 1991-06-07 2004-02-13 2021-04-13 7273 ENSG00000155657 OTTHUMG00000154448 uc031rqc.3 X90568 NM_133378 "CCDS33337|CCDS54422|CCDS59435|CCDS54423|CCDS54424|CCDS54421|CCDS74610" Q8WZ42 "2129545|10051295" MGI:98864 RGD:621114 "FHC Mutation Database|http://www.angis.org.au/Databases/Heart/heartbreak.html|TTN @ LOVD|http://www.LOVD.nl/TTN|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=TTN|LRG_391|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_391.xml" 188840 120326 objectId:2265 HGNC:12403 "ENST00000589042.5|NM_001267550.2" HGNC:12403 +HGNC:44124 TTN-AS1 TTN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q31.2 02q31.2 TTN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2019-07-12 100506866 ENSG00000237298 OTTHUMG00000133536 uc061qcw.1 BC041357 NR_038272 "29101304|31173403" TTN-AS1 HGNC:44124 +HGNC:12404 TTPA alpha tocopherol transfer protein protein-coding gene gene with protein product Approved 8q12.3 08q12.3 AVED "ataxia (Friedreich-like) with vitamin E deficiency|tocopherol (alpha) transfer protein" 1993-07-06 2016-05-23 2016-11-01 7274 ENSG00000137561 OTTHUMG00000164367 uc003xux.3 BC058000 NM_000370 CCDS6178 P49638 "7719340|7887897" MGI:1354168 RGD:3915 600415 120334 HGNC:12404 "ENST00000260116.5|NM_000370.3" HGNC:12404 +HGNC:16114 TTPAL alpha tocopherol transfer protein like protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ179M20.3 C20orf121 "chromosome 20 open reading frame 121|tocopherol (alpha) transfer protein-like" 2001-07-17 2008-06-23 2016-05-23 2016-05-23 79183 ENSG00000124120 OTTHUMG00000032536 uc002xmd.2 BC003071 NM_024331 CCDS13332 Q9BTX7 MGI:1923330 RGD:1305754 HGNC:16114 "ENST00000262605.9|NM_001039199.3" +HGNC:12405 TTR transthyretin protein-coding gene gene with protein product Approved 18q12.1 18q12.1 "HsT2651|CTS" "PALB|CTS1" "prealbumin, amyloidosis type I|carpal tunnel syndrome 1" Gla domain containing 1250 1986-01-01 2008-07-31 2021-04-13 7276 ENSG00000118271 OTTHUMG00000131984 uc002kwx.5 M10605 NM_000371 CCDS11899 P02766 "8309582|11385707" MGI:98865 RGD:3916 "LSDB list|http://grenada.lumc.nl/LSDB_list/lsdbs/TTR|LRG_416|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_416.xml" 176300 120337 objectId:2851 HGNC:12405 "ENST00000237014.8|NM_000371.4" HGNC:12405 +HGNC:14022 TTTY1 testis-specific transcript, Y-linked 1 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 "TTY1|NCRNA00033|LINC00033" "non-protein coding RNA 33|long intergenic non-protein coding RNA 33" "testis-specific transcript, Y-linked 1|testis-specific transcript, Y-linked 1 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-09-21 2018-05-16 2018-05-16 50858 ENSG00000129845 OTTHUMG00000046226 uc004fsm.3 AF000990 NR_001538 TTTY1 HGNC:14022 +HGNC:37981 TTTY1B testis-specific transcript, Y-linked 1B non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 testis-specific transcript, Y-linked 1B (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2010-03-16 2018-05-16 2018-05-16 100101116 ENSG00000129816 OTTHUMG00000040984 uc004fqt.3 NR_003589 TTTY1B HGNC:37981 +HGNC:14023 TTTY2 testis-specific transcript, Y-linked 2 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 "TTY2|lINC00109" long intergenic non-protein coding RNA 109 "testis-specific transcript, Y-linked 2|testis-specific transcript, Y-linked 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-09-21 2018-05-16 2018-05-16 60439 ENSG00000212855 OTTHUMG00000046230 uc065crc.1 AF000991 NR_001536 TTTY2 HGNC:14023 +HGNC:37982 TTTY2B testis-specific transcript, Y-linked 2B non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 testis-specific transcript, Y-linked 2B (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2010-03-16 2018-05-16 2018-05-16 100101117 ENSG00000212856 OTTHUMG00000040980 uc065cqa.1 NR_003590 TTTY2B HGNC:37982 +HGNC:16480 TTTY3 testis-specific transcript, Y-linked 3 non-coding RNA RNA, long non-coding Approved Yq11.23 Yq11.23 "TTY3|TTTY3A|LINC00121" long intergenic non-protein coding RNA 121 "testis-specific transcript, Y-linked 3|testis-specific transcript, Y-linked 3 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-09-21 2018-05-16 2018-05-16 114760 ENSG00000231141 OTTHUMG00000045256 uc004fxg.1 AF332230 NR_001524 400036 TTTY3 HGNC:16480 +HGNC:31888 TTTY3B testis-specific transcript, Y-linked 3B non-coding RNA RNA, long non-coding Approved Yq11.23 Yq11.23 LNCRNA00122 long intergenic non-protein coding RNA 122 "testis-specific transcript, Y-linked 3B|testis-specific transcript, Y-linked 3B (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2005-01-06 2018-05-16 2018-05-16 474148 ENSG00000280961 OTTHUMG00000189591 uc004fvy.1 NR_002176 TTTY3B HGNC:31888 +HGNC:16481 TTTY4 testis-specific transcript, Y-linked 4 non-coding RNA RNA, long non-coding Approved Yq11.223 Yq11.223 "TTY4|TTTY4A|LINC00123" long intergenic non-protein coding RNA 123 "testis-specific transcript, Y-linked 4|testis-specific transcript, Y-linked 4 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-09-21 2018-05-16 2018-05-16 114761 ENSG00000226906 OTTHUMG00000045294 uc011nbi.2 AF332231 NR_001525 400037 TTTY4 HGNC:16481 +HGNC:31891 TTTY4B testis-specific transcript, Y-linked 4B non-coding RNA RNA, long non-coding Approved Yq11.23 Yq11.23 LINC00124 long intergenic non-protein coding RNA 124 "testis-specific transcript, Y-linked 4B|testis-specific transcript, Y-linked 4B (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2005-01-06 2018-05-16 2018-05-16 474149 ENSG00000235412 OTTHUMG00000045296 uc004fwh.3 NR_002178 TTTY4B HGNC:31891 +HGNC:31892 TTTY4C testis-specific transcript, Y-linked 4C non-coding RNA RNA, long non-coding Approved Yq11.23 Yq11.23 LINC00125 long intergenic non-protein coding RNA 125 "testis-specific transcript, Y-linked 4C|testis-specific transcript, Y-linked 4C (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2005-01-06 2018-05-16 2018-05-16 474150 ENSG00000228296 OTTHUMG00000045200 uc011nbv.2 NR_002177 TTTY4C HGNC:31892 +HGNC:16482 TTTY5 testis-specific transcript, Y-linked 5 non-coding RNA RNA, long non-coding Approved Yq11.223 Yq11.223 "TTY5|LINC00126" long intergenic non-protein coding RNA 126 "testis-specific transcript, Y-linked 5|testis-specific transcript, Y-linked 5 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-09-21 2018-05-16 2018-05-16 83863 ENSG00000215560 OTTHUMG00000043578 uc004fvb.3 AF332236 NR_001541 400038 TTTY5 HGNC:16482 +HGNC:16483 TTTY6 testis-specific transcript, Y-linked 6 non-coding RNA RNA, long non-coding Approved Yq11.223 Yq11.223 "TTY6|TTTY6A|LINC00127" long intergenic non-protein coding RNA 127 "testis-specific transcript, Y-linked 6|testis-specific transcript, Y-linked 6 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2001-09-21 2018-05-16 2018-05-16 84672 ENSG00000131538 OTTHUMG00000046220 uc022coj.2 AF332237 NR_001527 400039 TTTY6 HGNC:16483 +HGNC:31887 TTTY6B testis-specific transcript, Y-linked 6B non-coding RNA RNA, long non-coding Approved Yq11.223 Yq11.223 LINC00128 long intergenic non-protein coding RNA 128 "testis-specific transcript, Y-linked 6B|testis-specific transcript, Y-linked 6B (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2005-01-06 2018-05-16 2018-05-16 441543 ENSG00000131548 OTTHUMG00000043580 uc022cog.2 AY597808 NR_002175 TTTY6B HGNC:31887 +HGNC:18488 TTTY7 testis-specific transcript, Y-linked 7 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 "LINC00129|TTTY7A" long intergenic non-protein coding RNA 129 "testis-specific transcript, Y-linked 7|testis-specific transcript, Y-linked 7 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-05-22 2018-05-16 2018-05-16 246122 ENSG00000147753 OTTHUMG00000040981 uc004fqw.3 AF332232 NR_001534 TTTY7 HGNC:18488 +HGNC:37463 TTTY7B testis-specific transcript, Y-linked 7B non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00215 non-protein coding RNA 215 testis-specific transcript, Y-linked 7B (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2009-10-16 2018-05-16 2018-05-16 100101120 ENSG00000147761 OTTHUMG00000046238 uc004fsi.3 BX089948 NR_003592 TTTY7B HGNC:37463 +HGNC:18489 TTTY8 testis-specific transcript, Y-linked 8 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 "TTY8|NCRNA00130|LINC00130" "non-protein coding RNA 130|long intergenic non-protein coding RNA 130" "testis-specific transcript, Y-linked 8|testis-specific transcript, Y-linked 8 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-05-22 2018-05-16 2018-05-16 84673 ENSG00000183385 OTTHUMG00000046237 uc065crb.1 AF332234 NR_001533 TTTY8 HGNC:18489 +HGNC:37622 TTTY8B testis-specific transcript, Y-linked 8B non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00217 non-protein coding RNA 217 testis-specific transcript, Y-linked 8B (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2009-11-19 2018-05-16 2018-05-16 100101118 ENSG00000185700 OTTHUMG00000040982 uc065cqb.1 NR_003591 TTTY8B HGNC:37622 +HGNC:18490 TTTY9A testis-specific transcript, Y-linked 9A non-coding RNA RNA, long non-coding Approved Yq11.222 Yq11.222 "TTY9|NCRNA00131" non-protein coding RNA 131 TTTY9 "testis-specific transcript, Y-linked 9|testis-specific transcript, Y-linked 9A (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-05-22 2005-12-16 2018-05-16 2018-05-16 83864 AF332238 NR_001530 TTTY9A HGNC:18490 +HGNC:32425 TTTY9B testis-specific transcript, Y-linked 9B non-coding RNA RNA, long non-coding Approved Yq11.222 Yq11.222 NCRNA00132 non-protein coding RNA 132 "testis-specific transcript, Y-linked 9B|testis-specific transcript, Y-linked 9B (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2005-12-16 2018-05-16 2018-05-16 425057 ENSG00000131007 OTTHUMG00000041950 uc004fts.1 NR_002159 12815422 TTTY9B HGNC:32425 +HGNC:18491 TTTY10 testis-specific transcript, Y-linked 10 non-coding RNA RNA, long non-coding Approved Yq11.223 Yq11.223 NCRNA00133 non-protein coding RNA 133 "testis-specific transcript, Y-linked 10|testis-specific transcript, Y-linked 10 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-05-22 2018-05-16 2018-05-16 246119 ENSG00000229236 OTTHUMG00000036431 uc004fuj.1 AF332239 NR_001542 Q9BZA0 28797257 TTTY10 HGNC:18491 +HGNC:18492 TTTY11 testis-specific transcript, Y-linked 11 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 "TTY11|NCRNA00134" non-protein coding RNA 134 "testis-specific transcript, Y-linked 11|testis-specific transcript, Y-linked 11 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-05-22 2018-05-16 2018-05-16 83866 ENSG00000180910 OTTHUMG00000041259 uc004frk.4 AF332240 NR_001548 TTTY11 HGNC:18492 +HGNC:18493 TTTY12 testis-specific transcript, Y-linked 12 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 "TTY11|NCRNA00135" non-protein coding RNA 135 "testis-specific transcript, Y-linked 12|testis-specific transcript, Y-linked 12 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-05-22 2018-05-16 2018-05-16 83867 ENSG00000237048 OTTHUMG00000067560 uc004frh.4 AF332241 NR_001551 Q9BZ98 TTTY12 HGNC:18493 +HGNC:18494 TTTY13 testis-specific transcript, Y-linked 13 non-coding RNA RNA, long non-coding Approved Yq11.223 Yq11.223 "TTY13|NCRNA00136" non-protein coding RNA 136 "testis-specific transcript, Y-linked 13|testis-specific transcript, Y-linked 13 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-05-22 2018-05-16 2018-05-16 83868 ENSG00000184991 OTTHUMG00000043583 uc004fus.3 AF332242 NR_001537 Q9BZ97 TTTY13 HGNC:18494 +HGNC:38596 TTTY13B testis-specific transcript, Y-linked 13B non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 Long non-coding RNAs with non-systematic symbols 1992 2010-07-02 2010-07-02 2012-10-12 100287735 +HGNC:38613 TTTY13C testis-specific transcript, Y-linked 13C non-coding RNA RNA, long non-coding Approved Yp11.2 not on reference assembly Yp11.2 not on reference assembly Long non-coding RNAs with non-systematic symbols 1992 2010-07-22 2019-06-28 100287979 +HGNC:18495 TTTY14 testis-specific transcript, Y-linked 14 non-coding RNA RNA, long non-coding Approved Yq11.222 Yq11.222 "TTY14|NCRNA00137|PRO2834" non-protein coding RNA 137 "NCRNA00185|CYorf14" "testis-specific transcript, Y-linked 14|non-protein coding RNA 185|chromosome Y open reading frame 14|testis-specific transcript, Y-linked 14 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-05-22 2018-05-16 2018-05-16 83869 ENSG00000176728 OTTHUMG00000036505 uc065ctn.1 AF332243 NR_001543 TTTY14 HGNC:18495 +HGNC:18567 TTTY15 testis-specific transcript, Y-linked 15 non-coding RNA RNA, long non-coding Approved Yq11.221 Yq11.221 "DKFZP434I143|NCRNA00138" non-protein coding RNA 138 "testis-specific transcript, Y-linked 15|testis-specific transcript, Y-linked 15 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-05-22 2018-05-16 2019-07-24 64595 ENSG00000233864 OTTHUMG00000036468 uc004fss.4 AL080135 NR_001545 31311130 TTTY15 HGNC:18567 +HGNC:18840 TTTY16 testis-specific transcript, Y-linked 16 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00139 non-protein coding RNA 139 "testis-specific transcript, Y-linked 16|testis-specific transcript, Y-linked 16 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-07-22 2018-05-16 2018-05-16 252948 ENSG00000225520 OTTHUMG00000041019 uc004frf.1 NR_001552 TTTY16 HGNC:18840 +HGNC:18841 TTTY17A testis-specific transcript, Y-linked 17A non-coding RNA RNA, long non-coding Approved Yq11.223 Yq11.223 NCRNA00140 non-protein coding RNA 140 TTTY17 "testis-specific transcript, Y-linked 17|testis-specific transcript, Y-linked 17A|testis-specific transcript, Y-linked 17A (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-07-22 2006-09-21 2018-05-16 2018-05-16 252949 ENSG00000228240 OTTHUMG00000043854 uc004fvi.3 AF527829 NR_001526 400040 TTTY17A HGNC:18841 +HGNC:31889 TTTY17B testis-specific transcript, Y-linked 17B non-coding RNA RNA, long non-coding Approved Yq11.23 Yq11.23 NCRNA00141 non-protein coding RNA 141 "testis-specific transcript, Y-linked 17B|testis-specific transcript, Y-linked 17B (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2005-01-06 2018-05-16 2018-05-16 474151 ENSG00000227439 OTTHUMG00000046228 uc004fwg.3 NR_002180 TTTY17B HGNC:31889 +HGNC:31890 TTTY17C testis-specific transcript, Y-linked 17C non-coding RNA RNA, long non-coding Approved Yq11.23 Yq11.23 NCRNA00142 non-protein coding RNA 142 "testis-specific transcript, Y-linked 17C|testis-specific transcript, Y-linked 17C (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2005-01-06 2018-05-16 2018-05-16 474152 ENSG00000223641 OTTHUMG00000045207 uc004fwt.3 NR_002179 TTTY17C HGNC:31890 +HGNC:18842 TTTY18 testis-specific transcript, Y-linked 18 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00143 non-protein coding RNA 143 "testis-specific transcript, Y-linked 18|testis-specific transcript, Y-linked 18 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-07-22 2018-05-16 2018-05-16 252950 ENSG00000233699 OTTHUMG00000041267 uc004fri.1 NR_001550 TTTY18 HGNC:18842 +HGNC:18843 TTTY19 testis-specific transcript, Y-linked 19 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00144 non-protein coding RNA 144 "testis-specific transcript, Y-linked 19|testis-specific transcript, Y-linked 19 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-07-22 2018-05-16 2018-05-16 252952 ENSG00000232419 OTTHUMG00000041268 uc004frj.1 NR_001549 TTTY19 HGNC:18843 +HGNC:18844 TTTY20 testis-specific transcript, Y-linked 20 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00145 non-protein coding RNA 145 "testis-specific transcript, Y-linked 20|testis-specific transcript, Y-linked 20 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-07-22 2018-05-16 2018-05-16 252951 ENSG00000232808 OTTHUMG00000041537 uc004frm.3 NR_001546 TTTY20 HGNC:18844 +HGNC:18845 TTTY21 testis-specific transcript, Y-linked 21 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00146 non-protein coding RNA 146 "testis-specific transcript, Y-linked 21|testis-specific transcript, Y-linked 21 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-07-22 2018-05-16 2018-05-16 252953 ENSG00000228890 OTTHUMG00000046232 uc004fsk.1 NR_001535 HGNC:18845 +HGNC:37980 TTTY21B testis-specific transcript, Y-linked 21B non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 testis-specific transcript, Y-linked 21B (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2010-03-16 2018-05-16 2018-05-16 100101115 ENSG00000237563 OTTHUMG00000040983 uc004fqv.3 NR_003588 HGNC:37980 +HGNC:18846 TTTY22 testis-specific transcript, Y-linked 22 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00147 non-protein coding RNA 147 "testis-specific transcript, Y-linked 22|testis-specific transcript, Y-linked 22 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-07-22 2018-05-16 2018-05-16 252954 ENSG00000224075 OTTHUMG00000041601 uc004fsn.1 NR_001539 29209947 TTTY22 HGNC:18846 +HGNC:18847 TTTY23 testis-specific transcript, Y-linked 23 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 NCRNA00148 non-protein coding RNA 148 "testis-specific transcript, Y-linked 23|testis-specific transcript, Y-linked 23 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2002-07-22 2018-05-16 2018-05-16 252955 ENSG00000239225 OTTHUMG00000046234 uc004fso.1 NR_001540 TTTY23 HGNC:18847 +HGNC:37983 TTTY23B testis-specific transcript, Y-linked 23B non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 testis-specific transcript, Y-linked 23B (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2010-03-16 2018-05-16 2018-05-30 100101121 ENSG00000250204 OTTHUMG00000036006 uc004fqq.1 NR_003593 TTTY23B HGNC:37983 +HGNC:38521 TTTY24P testis-specific transcript, Y-linked 24, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-06-07 2014-11-19 100287941 NG_031896 HGNC:38521 +HGNC:38524 TTTY25P testis-specific transcript, Y-linked 25, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-06-08 2015-07-22 100287026 ENSG00000259247 OTTHUMG00000172609 NG_032203 HGNC:38524 +HGNC:38528 TTTY26P testis-specific transcript, Y-linked 26, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-06-08 2014-11-19 100287818 NG_065967 HGNC:38528 +HGNC:38527 TTTY27P testis-specific transcript, Y-linked 27, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-06-08 2014-11-19 100287874 NG_065968 HGNC:38527 +HGNC:38534 TTTY28P testis-specific transcript, Y-linked 28, pseudogene pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-06-09 2014-11-19 100287606 +HGNC:38547 TTTY29P testis-specific transcript, Y-linked 29, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-06-11 2014-11-19 100287167 +HGNC:38604 TTTY30P testis-specific transcript, Y-linked 30, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-06-29 2010-06-29 2014-11-18 100287844 NG_032208 HGNC:38604 +HGNC:38711 TTTY31P testis-specific transcript, Y-linked 31, pseudogene pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-07-22 2014-11-19 100287905 NG_032210 HGNC:38711 +HGNC:13476 TTYH1 tweety family member 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "tweety (Drosophila) homolog 1|tweety homolog 1 (Drosophila)" Tweety family 1830 2000-09-28 2013-09-02 2016-10-05 57348 ENSG00000167614 OTTHUMG00000065544 uc002qft.4 AF177909 NM_001005367 "CCDS33106|CCDS56102|CCDS12893" Q9H313 10950931 MGI:1889007 RGD:1310103 605784 HGNC:13476 "ENST00000376530.8|NM_020659.4" +HGNC:13877 TTYH2 tweety family member 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 C17orf29 "tweety (Drosophila) homolog 2|tweety homolog 2 (Drosophila)" Tweety family 1830 2000-11-27 2013-09-02 2016-04-05 94015 ENSG00000141540 OTTHUMG00000166018 uc002jkc.4 NM_001330453 "CCDS82195|CCDS32717|CCDS45770" Q9BSA4 "11597145|18577513" MGI:2157091 RGD:1562969 608855 HGNC:13877 "ENST00000269346.9|NM_032646.6" +HGNC:22222 TTYH3 tweety family member 3 protein-coding gene gene with protein product Approved 7p22.3 07p22.3 KIAA1691 tweety homolog 3 (Drosophila) Tweety family 1830 2003-12-10 2013-09-02 2018-11-22 80727 ENSG00000136295 OTTHUMG00000152050 uc003smp.4 NM_025250 CCDS34588 Q9C0H2 MGI:1925589 RGD:1309549 608919 HGNC:22222 "ENST00000258796.12|NM_025250.3" +HGNC:12406 TUB TUB bipartite transcription factor protein-coding gene gene with protein product Approved 11p15.4 11p15.4 rd5 "tubby (mouse) homolog|tubby homolog (mouse)|tubby bipartite transcription factor" 1996-10-11 2019-04-11 2020-03-30 7275 ENSG00000166402 OTTHUMG00000165690 uc001mga.4 U54644 NM_003320 "CCDS7787|CCDS7786" P50607 "8612280|28154160" MGI:2651573 RGD:3918 601197 400463 HGNC:12406 "ENST00000299506.3|NM_177972.3" HGNC:12406 +HGNC:51120 TUB-AS1 TUB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2014-07-30 2014-07-30 101927917 ENSG00000248332 OTTHUMG00000165692 NR_120537 TUB-AS1 HGNC:51120 +HGNC:20766 TUBA1A tubulin alpha 1a protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "TUBA3|B-ALPHA-1|FLJ25113" tubulin, alpha, brain-specific Tubulins 778 2007-01-30 2015-12-11 2021-05-26 7846 ENSG00000167552 OTTHUMG00000169511 uc001rtp.5 AF141347 NM_006009 "CCDS58226|CCDS58227|CCDS8781" Q71U36 "11504633|3839072" MGI:98869 RGD:619717 602529 159394 objectId:2638 HGNC:20766 "ENST00000301071.12|NM_006009.4" HGNC:20766 +HGNC:18809 TUBA1B tubulin alpha 1b protein-coding gene gene with protein product Approved 12q13.12 12q13.12 K-ALPHA-1 tubulin, alpha, ubiquitous Tubulins 778 2007-02-12 2015-12-11 2016-11-10 10376 ENSG00000123416 OTTHUMG00000170410 uc001rtm.4 AF081484 NM_006082 CCDS31792 P68363 "12054644|6646120" MGI:107804 RGD:1565476 602530 HGNC:18809 "ENST00000336023.9|NM_006082.3" +HGNC:20768 TUBA1C tubulin alpha 1c protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "MGC14580|MGC10851|bcm948" TUBA6 tubulin, alpha 6 Tubulins 778 2005-11-02 2007-02-12 2015-12-11 2020-04-01 84790 ENSG00000167553 OTTHUMG00000169497 uc001rtt.2 BC004949 NM_032704 "CCDS76556|CCDS8782" Q9BQE3 7821789 MGI:1095409 RGD:1307226 HGNC:20768 "ENST00000301072.11|NM_032704.5" +HGNC:12408 TUBA3C tubulin alpha 3c protein-coding gene gene with protein product Approved 13q12.11 13q12.11 bA408E5.3 TUBA2 tubulin, alpha 2 Tubulins 778 1992-09-17 2007-02-12 2015-12-11 2015-12-11 7278 ENSG00000198033 OTTHUMG00000016481 uc009zzj.3 AF005392 NM_006001 CCDS9284 P0DPH7 9465305 602528 HGNC:12408 "ENST00000400113.8|NM_006001.3" +HGNC:24071 TUBA3D tubulin alpha 3d protein-coding gene gene with protein product Approved 2q21.1 02q21.1 H2-ALPHA alpha-tubulin isotype H2-alpha Tubulins 778 2007-02-12 2015-12-11 2015-12-11 113457 ENSG00000075886 OTTHUMG00000153600 uc002tsu.5 K03460 NM_080386 CCDS33290 P0DPH8 3785200 MGI:1095408 RGD:1565155 617878 HGNC:24071 "ENST00000321253.7|NM_080386.4" +HGNC:20765 TUBA3E tubulin alpha 3e protein-coding gene gene with protein product Approved 2q21.1 02q21.1 Tubulins 778 2007-02-12 2015-12-11 2015-12-11 112714 ENSG00000152086 OTTHUMG00000131626 uc002tqv.4 BC057811 NM_207312 CCDS2158 Q6PEY2 HGNC:20765 "ENST00000312988.9|NM_207312.3" HGNC:20765 +HGNC:24067 TUBA3FP tubulin alpha 3f pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 Tubulins 778 2012-06-22 2015-12-17 2015-12-17 113691 ENSG00000161149 OTTHUMG00000150876 NR_003608 12477932 PGOHUM00000246251 HGNC:24067 +HGNC:44096 TUBA3GP tubulin alpha 3g pseudogene pseudogene pseudogene Approved 22q11.21 22q11.21 Tubulins 778 2012-06-28 2015-12-17 2015-12-17 645348 ENSG00000249680 OTTHUMG00000150926 NG_006439 PGOHUM00000246419 HGNC:44096 +HGNC:12407 TUBA4A tubulin alpha 4a protein-coding gene gene with protein product Approved 2q35 02q35 "FLJ30169|H2-ALPHA" TUBA1 "tubulin, alpha 1 (testis specific)|tubulin, alpha 1" Tubulins 778 2001-06-22 2007-02-12 2015-12-11 2021-05-26 7277 ENSG00000127824 OTTHUMG00000133126 uc002vkt.3 AK054731 NM_006000 "CCDS63131|CCDS2438" P68366 3785200 MGI:1095410 RGD:1359623 191110 471270 objectId:2639 HGNC:12407 "ENST00000248437.9|NM_006000.3" HGNC:12407 +HGNC:18637 TUBA4B tubulin alpha 4b protein-coding gene gene with protein product Approved 2q35 02q35 FLJ13940 TUBA4 "tubulin, alpha 4|tubulin, alpha 4b (pseudogene)" Tubulins 778 2002-05-14 2007-02-12 2015-12-17 2017-11-23 80086 ENSG00000243910 OTTHUMG00000154516 uc284pqj.1 AK024002 NM_001355221 CCDS86922 Q9H853 "3785200|22360420" HGNC:18637 "ENST00000490341.3|NM_001355221.1" +HGNC:54799 TUBA5P tubulin alpha 5, pseudogene pseudogene pseudogene Approved 1q32.1 01q32.1 RP11-480I12.5 TUBAP5 tubulin alpha pseudogene 5 2020-01-10 2020-04-02 2020-04-02 2020-04-02 730222 ENSG00000214796 NG_022750 31897160 +HGNC:12410 TUBA8 tubulin alpha 8 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 TUBAL2 Tubulins 778 1999-10-29 2015-12-11 2021-05-26 51807 ENSG00000183785 OTTHUMG00000150097 uc002znv.3 AJ245922 NM_018943 "CCDS13751|CCDS54495" Q9NY65 "10772959|10591208" MGI:1858225 RGD:1566041 605742 260889 HGNC:12410 "ENST00000330423.8|NM_018943.3" HGNC:12410 +HGNC:23534 TUBAL3 tubulin alpha like 3 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 FLJ21665 tubulin, alpha-like 3 Tubulins 778 2004-05-27 2015-12-11 2015-12-11 79861 ENSG00000178462 OTTHUMG00000017595 uc001ihy.3 AK025318 NM_024803 "CCDS7066|CCDS53491" A6NHL2 MGI:3588215 RGD:1305289 HGNC:23534 "ENST00000380419.8|NM_024803.3" HGNC:23534 +HGNC:12411 TUBAP1 tubulin alpha pseudogene 1 pseudogene pseudogene Approved 21q21.2 21q21.2 TUBAP tubulin alpha pseudogene 2000-05-23 2020-04-03 2020-04-03 2020-04-03 54016 ENSG00000237569 OTTHUMG00000078256 NG_000900 PGOHUM00000239052 HGNC:12411 +HGNC:14531 TUBAP2 tubulin alpha pseudogene 2 pseudogene pseudogene Approved 11q14.3 11q14.3 2001-02-28 2010-10-01 2015-12-17 2020-04-20 399942 ENSG00000214391 OTTHUMG00000167307 NG_029287 PGOHUM00000257918 HGNC:14531 +HGNC:44568 TUBAP3 tubulin alpha pseudogene 3 pseudogene pseudogene Approved 3p21.33 03p21.33 TUBA8P1 tubulin, alpha 8 pseudogene 1 2012-11-15 2015-03-19 2015-12-17 2015-12-17 100419007 NG_025571 PGOHUM00000237603 HGNC:44568 +HGNC:44569 TUBAP4 tubulin alpha pseudogene 4 pseudogene pseudogene Approved 15q25.2 15q25.2 TUBA8P2 tubulin, alpha 8 pseudogene 2 2012-11-15 2015-03-19 2015-12-17 2020-03-27 106479041 ENSG00000261665 OTTHUMG00000172852 NG_045841 PGOHUM00000247230 HGNC:44569 +HGNC:54873 TUBAP6 tubulin alpha pseudogene 6 pseudogene pseudogene Approved Xq23 Xq23 2020-04-03 2020-04-03 100129818 ENSG00000274374 OTTHUMG00000022235 NG_022630 PGOHUM00000304809 +HGNC:54874 TUBAP7 tubulin alpha pseudogene 7 pseudogene pseudogene Approved 11q12.3 11q12.3 2020-04-03 2020-04-03 644436 ENSG00000253547 OTTHUMG00000167770 NG_021822 PGOHUM00000290997 +HGNC:54875 TUBAP8 tubulin alpha pseudogene 8 pseudogene pseudogene Approved 1p33 01p33 2020-04-03 2020-04-03 100533627 ENSG00000238145 OTTHUMG00000008021 NG_028832 PGOHUM00000296315 +HGNC:54876 TUBAP9 tubulin alpha pseudogene 9 pseudogene pseudogene Approved 1p33 01p33 2020-04-03 2020-04-03 100533626 ENSG00000225154 OTTHUMG00000008018 NG_028826 PGOHUM00000295661 +HGNC:54877 TUBAP10 tubulin alpha pseudogene 10 pseudogene pseudogene Approved 4q28.1 04q28.1 2020-04-03 2020-04-03 645773 ENSG00000248506 OTTHUMG00000161385 NG_022034 PGOHUM00000299991 +HGNC:54878 TUBAP11 tubulin alpha pseudogene 11 pseudogene pseudogene Approved 15q14 15q14 2020-04-03 2020-04-03 100132824 ENSG00000259751 OTTHUMG00000172289 NG_028861 PGOHUM00000292907 +HGNC:54879 TUBAP12 tubulin alpha pseudogene 12 pseudogene pseudogene Approved 15q26.2 15q26.2 2020-04-03 2020-04-03 100289303 ENSG00000259614 OTTHUMG00000171856 NG_022118 PGOHUM00000293083 +HGNC:54880 TUBAP13 tubulin alpha pseudogene 13 pseudogene pseudogene Approved 2q23.3 02q23.3 2020-04-03 2020-04-03 642635 ENSG00000242575 OTTHUMG00000153825 NG_021528 PGOHUM00000298192 +HGNC:54881 TUBAP14 tubulin alpha pseudogene 14 pseudogene pseudogene Approved 5p12 05p12 2020-04-03 2020-04-03 100419036 ENSG00000247763 OTTHUMG00000162228 NG_024593 PGOHUM00000300574 +HGNC:54882 TUBAP15 tubulin alpha pseudogene 15 pseudogene pseudogene Approved 5q23.1 05q23.1 2020-04-03 2020-04-03 117751739 ENSG00000250895 OTTHUMG00000162945 PGOHUM00000300730 +HGNC:20778 TUBB tubulin beta class I protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "OK/SW-cl.56|MGC16435|M40|Tubb5" "class I beta-tubulin|beta1-tubulin" "tubulin, beta polypeptide|tubulin, beta|tubulin, beta class I" Tubulins 778 2004-11-22 2015-12-17 2021-05-26 203068 ENSG00000196230 OTTHUMG00000031059 uc063yon.1 AB062393 NM_178014 "CCDS78124|CCDS4687" P07437 "11504633|8270253" MGI:107812 RGD:628596 191130 448353 objectId:2640 HGNC:20778 "ENST00000327892.13|NM_178014.4" HGNC:20778 +HGNC:16257 TUBB1 tubulin beta 1 class VI protein-coding gene gene with protein product Approved 20q13.32 20q13.32 dJ543J19.4 class VI beta-tubulin tubulin, beta 1 Tubulins 778 2001-07-17 2015-12-17 2021-04-13 81027 ENSG00000101162 OTTHUMG00000032860 uc002yak.3 AJ292757 NM_030773 CCDS13475 Q9H4B7 MGI:107814 RGD:1589557 LRG_581|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_581.xml 612901 280099 HGNC:16257 "ENST00000217133.2|NM_030773.4" HGNC:16257 +HGNC:23982 TUBB1P1 tubulin beta 1 class VI pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 "tubulin, beta 1 pseudogene 1|tubulin, beta 1 class VI pseudogene 1" 2010-02-17 2015-12-17 2015-12-17 349448 ENSG00000249726 OTTHUMG00000041971 NG_002948 "11731935|12815422" PGOHUM00000305687 HGNC:23982 +HGNC:23981 TUBB1P2 tubulin beta 1 class VI pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 "tubulin, beta 1 pseudogene 2|tubulin, beta 1 class VI pseudogene 2" 2010-02-17 2015-12-17 2016-10-05 140004 ENSG00000228578 OTTHUMG00000036414 NG_002947 12815422 PGOHUM00000305489 HGNC:23981 +HGNC:12412 TUBB2A tubulin beta 2A class IIa protein-coding gene gene with protein product Approved 6p25.2 06p25.2 dJ40E16.7 class IIa beta-tubulin "TUBB|TUBB2" "tubulin, beta polypeptide|tubulin, beta 2|tubulin, beta 2A" Tubulins 778 2001-06-22 2005-11-03 2015-12-17 2021-05-26 7280 ENSG00000137267 OTTHUMG00000014135 uc003mvc.5 AY159127 NM_001069 CCDS4484 Q13885 14574404 MGI:107861 RGD:1588452 615101 471272 HGNC:12412 "ENST00000333628.4|NM_001069.3" HGNC:12412 +HGNC:30829 TUBB2B tubulin beta 2B class IIb protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "MGC8685|DKFZp566F223|bA506K6.1" class IIb beta-tubulin tubulin, beta 2B Tubulins 778 2005-11-03 2015-12-17 2021-05-26 347733 ENSG00000137285 OTTHUMG00000014143 uc003mvg.4 BC001352 NM_178012 CCDS4485 Q9BVA1 "8619474|9110174" MGI:1920960 RGD:1309427 612850 201538 HGNC:30829 "ENST00000259818.8|NM_178012.5" HGNC:30829 +HGNC:42332 TUBB2BP1 tubulin beta 2B class IIb pseudogene 1 pseudogene pseudogene Approved 6p25.2 06p25.2 2013-01-23 2015-12-17 2015-12-17 100132153 ENSG00000216819 OTTHUMG00000014136 NG_022291 PGOHUM00000243043 HGNC:42332 +HGNC:20772 TUBB3 tubulin beta 3 class III protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "beta-4|CFEOM3|CFEOM3A" class III beta-tubulin FEOM3 "tubulin, beta 3|fibrosis of extraocular muscles, congenital, 3" Tubulins 778 2004-11-22 2015-12-17 2021-05-26 10381 ENSG00000258947 OTTHUMG00000138985 uc002fph.2 BC000748 NM_006086 "CCDS10988|CCDS56012" Q13509 "9473684|8098743|20074521" MGI:107813 RGD:628595 602661 226013 objectId:2752 HGNC:20772 "ENST00000315491.12|NM_006086.4" HGNC:20772 +HGNC:42339 TUBB3P1 tubulin beta 3 class III pseudogene 1 pseudogene pseudogene Approved 6q15 06q15 2013-01-23 2015-12-17 2015-12-17 100288513 ENSG00000220418 OTTHUMG00000015197 NG_022360 PGOHUM00000260185 HGNC:42339 +HGNC:42181 TUBB3P2 tubulin beta 3 class III pseudogene 2 pseudogene pseudogene Approved 7q33 07q33 tubulin, beta 3 class III pseudogene 2 2013-01-23 2015-12-17 2015-12-17 100130187 ENSG00000230101 OTTHUMG00000155458 NG_032092 PGOHUM00000233003 HGNC:42181 +HGNC:20774 TUBB4A tubulin beta 4A class IVa protein-coding gene gene with protein product Approved 19p13.3 19p13.3 beta-5 class IVa beta-tubulin "TUBB4|DYT4" "tubulin, beta 4|tubulin, beta 4 class IVa|dystonia 4, torsion (autosomal dominant)" Tubulins 778 2004-11-22 2011-10-10 2015-12-17 2021-05-26 10382 ENSG00000104833 OTTHUMG00000181829 uc002mfg.2 AK075307 NM_006087 CCDS12168 P04350 "6865944|6462917|23595291" MGI:107848 RGD:619730 602662 306172 HGNC:20774 "ENST00000264071.7|NM_006087.4" HGNC:20774 +HGNC:42340 TUBB4AP1 tubulin beta 4A class IVa pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 tubulin, beta 4A class IVa pseudogene 1 2013-01-23 2015-12-17 2015-12-17 402422 ENSG00000228466 OTTHUMG00000022330 NG_022697 16489141 PGOHUM00000241990 HGNC:42340 +HGNC:20771 TUBB4B tubulin beta 4B class IVb protein-coding gene gene with protein product Approved 9q34.3 09q34.3 Beta2 class IVb beta-tubulin TUBB2C tubulin, beta 2C Tubulins 778 2005-11-03 2011-10-10 2015-12-17 2021-05-26 10383 ENSG00000188229 OTTHUMG00000131783 uc004cmh.2 BC019359 NM_006088 CCDS7039 P68371 3999141 MGI:1915472 RGD:735101 602660 objectId:2641 HGNC:20771 "ENST00000340384.5|NM_006088.6" HGNC:20771 +HGNC:42180 TUBB4BP1 TUBB4B pseudogene 1 pseudogene pseudogene Approved 12p12.1 12p12.1 "tubulin, beta 4B class IVb pseudogene 1|tubulin beta 4B class IVb pseudogene 1" 2013-01-23 2020-05-22 2020-05-22 106478981 ENSG00000255988 OTTHUMG00000169104 NG_043955 PGOHUM00000239376 HGNC:42180 +HGNC:42183 TUBB4BP2 TUBB4B pseudogene 2 pseudogene pseudogene Approved 9p13.3 09p13.3 "tubulin, beta 4B class IVb pseudogene 2|tubulin beta 4B class IVb pseudogene 2" 2013-01-23 2020-05-22 2020-05-22 100418974 ENSG00000224802 OTTHUMG00000000426 NG_023799 PGOHUM00000236017 HGNC:42183 +HGNC:42331 TUBB4BP3 TUBB4B pseudogene 3 pseudogene pseudogene Approved Xq24 Xq24 "tubulin, beta 4B class IVb pseudogene 3|tubulin beta 4B class IVb pseudogene 3" 2013-01-23 2020-05-22 2020-05-22 106480746 ENSG00000237458 OTTHUMG00000040068 NG_043762 PGOHUM00000261817 HGNC:42331 +HGNC:42333 TUBB4BP4 TUBB4B pseudogene 4 pseudogene pseudogene Approved 11q14.3 11q14.3 "tubulin, beta 4B class IVb pseudogene 4|tubulin beta 4B class IVb pseudogene 4" 2013-01-23 2020-05-22 2020-05-22 106480434 ENSG00000254961 OTTHUMG00000167333 NG_043327 PGOHUM00000242422 HGNC:42333 +HGNC:42335 TUBB4BP5 TUBB4B pseudogene 5 pseudogene pseudogene Approved 4q27 04q27 "tubulin, beta 4B class IVb pseudogene 5|tubulin beta 4B class IVb pseudogene 5" 2013-01-23 2013-01-28 2020-05-22 2020-05-22 106480747 ENSG00000224062 OTTHUMG00000161159 NG_043769 PGOHUM00000261391 HGNC:42335 +HGNC:42336 TUBB4BP6 TUBB4B pseudogene 6 pseudogene pseudogene Approved 9q33.1 09q33.1 "tubulin, beta 4B class IVb pseudogene 6|tubulin beta 4B class IVb pseudogene 6" 2013-01-23 2013-01-28 2020-05-22 2020-05-22 100996306 ENSG00000231166 OTTHUMG00000020568 PGOHUM00000236762 +HGNC:42337 TUBB4BP7 TUBB4B pseudogene 7 pseudogene pseudogene Approved 6q25.2 06q25.2 "tubulin, beta 4B class IVb pseudogene 7|tubulin beta 4B class IVb pseudogene 7" 2013-01-23 2020-05-22 2020-05-22 442271 ENSG00000217372 OTTHUMG00000015853 NG_022377 PGOHUM00000243825 HGNC:42337 +HGNC:55021 TUBB4BP8 TUBB4B pseudogene 8 pseudogene pseudogene Approved Xq21.33 Xq21.33 2020-05-22 2020-05-22 643371 ENSG00000227521 NG_023207 +HGNC:20776 TUBB6 tubulin beta 6 class V protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "MGC4083|HsT1601" "tubulin beta MGC4083|class V beta-tubulin" "tubulin, beta 6|tubulin, beta 6 class V" Tubulins 778 2004-11-22 2015-12-17 2019-03-20 84617 ENSG00000176014 OTTHUMG00000131692 uc060nnc.1 AK001295 NM_032525 "CCDS77153|CCDS11858" Q9BUF5 29016863 MGI:1915201 RGD:1305887 615103 HGNC:20776 "ENST00000317702.10|NM_032525.3" +HGNC:42342 TUBB6P1 tubulin beta 6 class V pseudogene 1 pseudogene pseudogene Approved 1p34.3 01p34.3 tubulin, beta 6 class V pseudogene 1 2013-01-23 2015-12-17 2015-12-17 100418964 NG_026927 PGOHUM00000243972 HGNC:42342 +HGNC:12413 TUBB7P tubulin beta 7 pseudogene pseudogene pseudogene Approved 4q35.2 04q35.2 TUBB4Q "tubulin, beta polypeptide 4, member Q|tubulin, beta polypeptide 4, member Q, pseudogene|tubulin, beta 7, pseudogene" Tubulins 778 2000-08-24 2011-10-10 2015-12-17 2015-12-17 56604 ENSG00000251297 OTTHUMG00000161002 U83110 NG_029424 10828619 PGOHUM00000306576 HGNC:12413 +HGNC:20773 TUBB8 tubulin beta 8 class VIII protein-coding gene gene with protein product Approved 10p15.3 10p15.3 bA631M21.2 class VIII beta-tubulin tubulin, beta 8 class VIII Tubulins 778 2011-10-10 2015-12-17 2021-05-26 347688 ENSG00000261456 OTTHUMG00000174803 uc001ifi.3 AF355127 NM_177987 CCDS7051 Q3ZCM7 616768 objectId:2753 HGNC:20773 "ENST00000568584.6|NM_177987.3" HGNC:20773 +HGNC:24983 TUBB8B tubulin beta 8B protein-coding gene gene with protein product Approved 18p11.32 18p11.32 TUBB8P12 tubulin beta 8 pseudogene 12 Tubulins 778 2015-05-18 2019-06-28 2019-06-28 2019-06-28 260334 ENSG00000173213 OTTHUMG00000163448 AF355126 NM_001358689 CCDS86657 A6NNZ2 11731935 HGNC:24983 "ENST00000308911.9|NM_001358689.2" +HGNC:42182 TUBB8P1 tubulin beta 8 class VIII pseudogene 1 pseudogene pseudogene Approved 9p21.3 09p21.3 2013-01-23 2013-01-28 100418937 ENSG00000229298 OTTHUMG00000019684 NG_023793 PGOHUM00000261527 HGNC:42182 +HGNC:42334 TUBB8P2 tubulin beta 8 class VIII pseudogene 2 pseudogene pseudogene Approved 6q24.2 06q24.2 2013-01-23 2013-01-28 2013-01-28 106478982 ENSG00000218896 OTTHUMG00000015726 NG_044994 PGOHUM00000261440 HGNC:42334 +HGNC:42338 TUBB8P3 tubulin beta 8 class VIII pseudogene 3 pseudogene pseudogene Approved 4q25 04q25 2013-01-23 2013-01-28 132719 ENSG00000250307 OTTHUMG00000161049 NG_022071 PGOHUM00000246030 HGNC:42338 +HGNC:42185 TUBB8P4 tubulin beta 8 class VIII pseudogene 4 pseudogene pseudogene Approved 12p11.1 12p11.1 tubulin, beta 8 class VIII pseudogene 4 2013-01-23 2015-12-17 2015-12-17 260338 ENSG00000250788 OTTHUMG00000163440 NG_002343 PGOHUM00000239404 HGNC:42185 +HGNC:42186 TUBB8P5 tubulin beta 8 class VIII pseudogene 5 pseudogene pseudogene Approved 12q12 12q12 tubulin, beta 8 class VIII pseudogene 5 2013-01-23 2015-12-17 2015-12-17 121014 ENSG00000254381 OTTHUMG00000169395 NG_002327 PGOHUM00000239742 HGNC:42186 +HGNC:42343 TUBB8P6 tubulin beta 8 class VIII pseudogene 6 pseudogene pseudogene Approved 1q43 01q43 tubulin, beta 8 class VIII pseudogene 6 2013-01-23 2015-12-17 2015-12-17 200149 ENSG00000224625 OTTHUMG00000039866 NG_002335 PGOHUM00000296840 HGNC:42343 +HGNC:42345 TUBB8P7 tubulin beta 8 class VIII pseudogene 7 pseudogene pseudogene Approved 16q24.3 16q24.3 tubulin, beta 8 class VIII pseudogene 7 2013-01-23 2015-12-17 2015-12-17 197331 ENSG00000261812 OTTHUMG00000172847 NG_002334 HGNC:42345 +HGNC:42346 TUBB8P8 tubulin beta 8 class VIII pseudogene 8 pseudogene pseudogene Approved 3q29 03q29 tubulin, beta 8 class VIII pseudogene 8 2013-01-23 2015-12-17 2020-04-20 102723626 ENSG00000213113 OTTHUMG00000155372 NG_054735 PGOHUM00000238322 HGNC:42346 +HGNC:42347 TUBB8P9 tubulin beta 8 class VIII pseudogene 9 pseudogene pseudogene Approved 1q42.13 01q42.13 tubulin, beta 8 class VIII pseudogene 9 2013-01-23 2015-12-17 2015-12-17 255208 ENSG00000235827 OTTHUMG00000037623 NG_002338 PGOHUM00000296797 HGNC:42347 +HGNC:42348 TUBB8P10 tubulin beta 8 class VIII pseudogene 10 pseudogene pseudogene Approved 1q42.13 01q42.13 tubulin, beta 8 class VIII pseudogene 10 2013-01-23 2015-12-17 2015-12-17 391171 ENSG00000237469 OTTHUMG00000037622 NG_022755 PGOHUM00000296079 HGNC:42348 +HGNC:32337 TUBB8P11 tubulin beta 8 class VIII pseudogene 11 pseudogene pseudogene Approved 1p36.33 01p36.33 2013-01-23 2015-12-17 2015-12-17 388579 ENSG00000234711 OTTHUMG00000002470 NG_005336 PGOHUM00000296185 HGNC:32337 +HGNC:12414 TUBBP1 tubulin beta pseudogene 1 pseudogene pseudogene Approved 8p12 08p12 "tubulin, beta polypeptide pseudogene 1|tubulin, beta pseudogene 1" 2001-06-22 2015-12-17 2020-04-20 92755 ENSG00000127589 OTTHUMG00000163834 J00317 NG_001206 7070533 PGOHUM00000261520 HGNC:12414 +HGNC:12415 TUBBP2 tubulin beta pseudogene 2 pseudogene pseudogene Approved 13q14.11 13q14.11 "tubulin, beta polypeptide pseudogene 2|tubulin, beta pseudogene 2" 2001-06-22 2015-12-17 2020-04-20 647000 ENSG00000214222 OTTHUMG00000016794 NG_011428 1685473 PGOHUM00000248382 HGNC:12415 +HGNC:18192 TUBBP3 tubulin beta pseudogene 3 pseudogene pseudogene Approved 14q21.2 14q21.2 "tubulin, beta polypeptide pseudogene 3|tubulin, beta pseudogene 3" 2003-01-13 2015-12-17 2020-04-07 326106 ENSG00000258406 OTTHUMG00000170705 NG_002529 PGOHUM00000256742 HGNC:18192 +HGNC:19913 TUBBP4 tubulin beta pseudogene 4 pseudogene pseudogene Approved 9p13.3 09p13.3 bA537H15.5 "tubulin, beta polypeptide pseudogene 4|tubulin, beta pseudogene 4" 2004-11-22 2015-12-17 2015-12-17 493816 NG_032183 HGNC:19913 +HGNC:23674 TUBBP5 tubulin beta pseudogene 5 pseudogene pseudogene Approved 9q34.3 09q34.3 "tubulin, beta polypeptide pseudogene 5|tubulin, beta pseudogene 5" 2003-12-01 2015-12-17 2015-12-17 643224 ENSG00000159247 OTTHUMG00000021001 AF355123 NR_027156 11731935 HGNC:23674 +HGNC:42175 TUBBP6 tubulin beta class I pseudogene 6 pseudogene pseudogene Approved 7p11.2 07p11.2 tubulin, beta class I pseudogene 6 2013-01-23 2015-12-17 2015-12-17 442308 ENSG00000235207 OTTHUMG00000156117 NG_022946 PGOHUM00000233240 HGNC:42175 +HGNC:42176 TUBBP7 tubulin beta class I pseudogene 7 pseudogene pseudogene Approved 8q22.1 08q22.1 tubulin, beta class I pseudogene 7 2013-01-23 2015-12-17 2015-12-17 100533620 NG_028884 PGOHUM00000249438 HGNC:42176 +HGNC:42179 TUBBP8 tubulin beta class I pseudogene 8 pseudogene pseudogene Approved 15q13.1 15q13.1 tubulin, beta class I pseudogene 8 2013-01-23 2015-12-17 2015-12-17 101927519 ENSG00000259300 OTTHUMG00000172188 NG_046389 PGOHUM00000247034 HGNC:42179 +HGNC:42178 TUBBP9 tubulin beta class I pseudogene 9 pseudogene pseudogene Approved 6p21.2 06p21.2 tubulin, beta class I pseudogene 9 2013-01-23 2015-12-17 2015-12-17 442210 ENSG00000220586 OTTHUMG00000014655 NG_028263 HGNC:42178 +HGNC:42344 TUBBP10 tubulin beta class I pseudogene 10 pseudogene pseudogene Approved 1p32.3 01p32.3 tubulin, beta class I pseudogene 10 2013-01-23 2015-12-17 2015-12-17 100418902 ENSG00000226147 OTTHUMG00000008919 NG_027095 HGNC:42344 +HGNC:42184 TUBBP11 tubulin beta class I pseudogene 11 pseudogene pseudogene Approved 3q13.11 03q13.11 tubulin, beta class I pseudogene 11 2013-01-23 2015-12-17 2015-12-17 106480745 ENSG00000243195 OTTHUMG00000159180 NG_043757 PGOHUM00000238121 HGNC:42184 +HGNC:16811 TUBD1 tubulin delta 1 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "FLJ12709|TUBD" tubulin, delta 1 Tubulins 778 2004-04-20 2015-12-17 2020-04-01 51174 ENSG00000108423 OTTHUMG00000179885 uc002ixw.3 AF201333 NM_016261 "CCDS54153|CCDS54151|CCDS54152|CCDS54154|CCDS11620" Q9UJT1 10620804 MGI:1891826 RGD:1311967 607344 HGNC:16811 "ENST00000325752.8|NM_016261.4" +HGNC:20775 TUBE1 tubulin epsilon 1 protein-coding gene gene with protein product Approved 6q21 06q21 "dJ142L7.2|FLJ22589|TUBE" tubulin, epsilon 1 Tubulins 778 2003-05-22 2015-12-17 2015-12-17 51175 ENSG00000074935 OTTHUMG00000015382 uc003pvq.4 AF201334 NM_016262 CCDS5100 Q9UJT0 10620804 MGI:1919174 RGD:1306048 607345 471274 HGNC:20775 "ENST00000368662.10|NM_016262.5" +HGNC:12417 TUBG1 tubulin gamma 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 TUBGCP1 TUBG "tubulin, gamma polypeptide|tubulin, gamma 1" Tubulins 778 2000-01-20 2015-12-17 2021-05-26 7283 ENSG00000131462 OTTHUMG00000180277 uc002ian.4 BC000619 NM_001070 CCDS11433 P23258 1904010 MGI:101834 RGD:628606 191135 471276 HGNC:12417 "ENST00000251413.8|NM_001070.5" HGNC:12417 +HGNC:12418 TUBG1P tubulin gamma 1 pseudogene pseudogene pseudogene Approved 7p13 07p13 tubulin, gamma 1 pseudogene 2000-01-20 2015-12-17 2015-12-17 442673 ENSG00000237972 OTTHUMG00000155247 AC004985 NG_009488 10903841 HGNC:12418 +HGNC:12419 TUBG2 tubulin gamma 2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 tubulin, gamma 2 Tubulins 778 2000-01-20 2015-12-17 2015-12-17 27175 ENSG00000037042 OTTHUMG00000180640 uc010wgr.3 AF225971 NM_016437 CCDS32658 Q9NRH3 MGI:2144208 RGD:1585798 605785 HGNC:12419 "ENST00000251412.8|NM_016437.3" +HGNC:18599 TUBGCP2 tubulin gamma complex associated protein 2 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "GCP2|Spc97p|SPBC97" tubulin, gamma complex associated protein 2 2002-08-14 2015-12-17 2015-12-17 10844 ENSG00000130640 OTTHUMG00000019319 uc001lmg.2 AF042379 NM_001256617 "CCDS58104|CCDS7676|CCDS58105" Q9BSJ2 9566967 MGI:1921487 RGD:1309597 617817 HGNC:18599 "ENST00000252936.8|NM_006659.4" HGNC:18599 +HGNC:18598 TUBGCP3 tubulin gamma complex associated protein 3 protein-coding gene gene with protein product Approved 13q34 13q34 "GCP3|Spc98p|SPBC98" spindle pole body protein tubulin, gamma complex associated protein 3 2002-08-14 2015-12-17 2015-12-17 10426 ENSG00000126216 OTTHUMG00000017367 uc001vse.3 AF042378 NM_006322 "CCDS66584|CCDS9525|CCDS73599" Q96CW5 "9566967|9566969" MGI:2183752 RGD:1305726 617818 HGNC:18598 "ENST00000261965.8|NM_006322.6" +HGNC:16691 TUBGCP4 tubulin gamma complex associated protein 4 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "76P|FLJ14797" tubulin, gamma complex associated protein 4 2007-08-20 2015-12-17 2015-12-17 27229 ENSG00000137822 OTTHUMG00000176647 uc001zrn.5 AJ249677 NM_014444 "CCDS66745|CCDS42030" Q9UGJ1 10562286 MGI:1196293 RGD:1306924 609610 426086 HGNC:16691 "ENST00000564079.6|NM_014444.5" HGNC:16691 +HGNC:18600 TUBGCP5 tubulin gamma complex associated protein 5 protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "GCP5|KIAA1899" gamma-tubulin complex component GCP5 tubulin, gamma complex associated protein 5 2002-08-14 2015-12-17 2016-10-05 114791 ENSG00000275835 OTTHUMG00000188371 uc001yur.5 AB067486 NM_052903 "CCDS73697|CCDS73698" Q96RT8 11694571 MGI:2178836 RGD:1304689 608147 HGNC:18600 "ENST00000615383.5|NM_052903.6" +HGNC:18127 TUBGCP6 tubulin gamma complex associated protein 6 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 "GCP6|KIAA1669|DJ402G11.6" gamma-tubulin complex component 6 tubulin, gamma complex associated protein 6 2002-08-14 2015-12-17 2016-10-05 85378 ENSG00000128159 OTTHUMG00000030150 uc003bkb.2 AB051456 NM_020461 CCDS14087 Q96RT7 "11694571|11258795" MGI:2146071 RGD:1307743 610053 304005 HGNC:18127 "ENST00000248846.10|NM_020461.4" HGNC:18127 +HGNC:12420 TUFM Tu translation elongation factor, mitochondrial protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "EFTu|EF-TuMT|EFTU" MicroRNA protein coding host genes 1691 1997-04-10 2015-09-08 7284 ENSG00000178952 OTTHUMG00000097039 uc002drh.2 L38995 NM_003321 CCDS10642 P49411 "9332382|9545647" MGI:1923686 RGD:1305501 602389 267235 HGNC:12420 "ENST00000313511.8|NM_003321.5" HGNC:12420 +HGNC:12421 TUFMP1 Tu translation elongation factor, mitochondrial pseudogene 1 pseudogene pseudogene Approved 17q11.1 17q11.1 TUFML Tu translation elongation factor, mitochondrial-like 1997-04-10 2010-10-26 2010-10-26 2017-10-25 645668 ENSG00000265646 OTTHUMG00000179167 Y11796 NG_006578 9545647 PGOHUM00000294022 HGNC:12421 +HGNC:12422 TUFT1 tuftelin 1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 MicroRNA protein coding host genes 1691 1993-08-24 2016-10-05 7286 ENSG00000143367 OTTHUMG00000012536 uc001eyl.3 AF254260 NM_020127 "CCDS44223|CCDS1000" Q9NNX1 7919663 MGI:109572 RGD:1310373 600087 HGNC:12422 "ENST00000368849.8|NM_020127.3" +HGNC:26066 TUG1 taurine up-regulated 1 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "FLJ20618|NCRNA00080|LINC00080" "non-protein coding RNA 80|long intergenic non-protein coding RNA 80" "taurine upregulated 1 (non-protein coding)|taurine up-regulated 1 (non-protein coding)" 2008-09-02 2018-05-16 2021-10-20 55000 ENSG00000253352 OTTHUMG00000030444 uc003ajh.4 AK057695 NM_001396518 A0A6I8PU40 "15797018|32894169" MGI:2144114 RGD:9685395 614971 tug1 TUG1 HGNC:26066 +HGNC:12423 TULP1 TUB like protein 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "TUBL1|LCA15" RP14 tubby like protein 1 1998-01-06 2019-04-11 2021-05-26 7287 ENSG00000112041 OTTHUMG00000014575 uc003okv.6 U82468 NM_001289395 "CCDS4807|CCDS75436" O00294 "9096357|9521870" MGI:109571 RGD:1311062 Mutations of the Tubby-like Protein 1 Gene|http://www.retina-international.org/files/sci-news/tulpmut.htm 602280 120341 HGNC:12423 "ENST00000229771.11|NM_003322.6" HGNC:12423 +HGNC:12424 TULP2 TUB like protein 2 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "TUBL2|CT65" cancer/testis antigen 65 tubby like protein 2 1998-01-06 2019-04-11 2019-04-11 7288 ENSG00000104804 OTTHUMG00000164406 uc002pkz.3 U82469 NM_003323 CCDS12739 O00295 9096357 MGI:1861600 RGD:1310551 602309 HGNC:12424 "ENST00000221399.8|NM_003323.3" +HGNC:12425 TULP3 TUB like protein 3 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 TUBL3 tubby like protein 3 1998-05-11 2019-04-11 2019-04-11 7289 ENSG00000078246 OTTHUMG00000168152 uc010seh.2 AF045583 NM_003324 "CCDS8519|CCDS53737" O75386 9828123 MGI:1329045 RGD:1585259 604730 471278 HGNC:12425 "ENST00000448120.7|NM_003324.5" +HGNC:39262 TULP3P1 TUB like protein 3 pseudogene 1 pseudogene pseudogene Approved 13q32.1 13q32.1 tubby like protein 3 pseudogene 1 2010-11-24 2019-04-11 2019-04-11 100128017 ENSG00000234267 OTTHUMG00000017234 NG_011427 PGOHUM00000292034 HGNC:39262 +HGNC:15530 TULP4 TUB like protein 4 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "TUSP|KIAA1397" tubby like protein 4 WD repeat domain containing 362 2003-05-28 2019-04-11 2019-04-11 56995 ENSG00000130338 OTTHUMG00000015910 uc003qrf.4 NM_020245 "CCDS34562|CCDS34561" Q9NRJ4 11595174 MGI:1916092 RGD:1564487 619442 HGNC:15530 "ENST00000367097.8|NM_020245.5" +HGNC:44088 TUNAR TCL1 upstream neural differentiation-associated RNA non-coding RNA RNA, long non-coding Approved 14q32.2 14q32.2 "TUNA|HI-LNC78|BNLN" "Tcl1 upstream neuron-associated lincRNA|Human Islet Long Non Coding RNA 78|beta cell- and neural cell-regulin" LINC00617 "long intergenic non-protein coding RNA 617|TCL1A upstream neural differentiation-associated RNA" Long non-coding RNAs with non-systematic symbols 1992 2012-06-20 2014-02-18 2014-03-04 2022-04-07 100507043 ENSG00000250366 OTTHUMG00000171392 AK023027 NR_038861 "24530304|22196729|23040067" MGI:1917202 615719 TUNAR HGNC:44088 +HGNC:31010 TUSC1 tumor suppressor candidate 1 protein-coding gene gene with protein product Approved 9p21.2 09p21.2 "TSG-9|CCDC89B" 2004-08-25 2017-03-21 286319 ENSG00000198680 OTTHUMG00000159591 uc003zpx.4 AY168647 NM_001004125 CCDS34999 Q2TAM9 15208665 MGI:2684283 610529 HGNC:31010 "ENST00000358022.6|NM_001004125.3" +HGNC:17034 TUSC2 tumor suppressor 2, mitochondrial calcium regulator protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FUS1|PAP|C3orf11" PDAP2 "PDGFA associated protein 2|tumor suppressor candidate 2" 2003-09-25 2004-01-21 2018-02-23 2018-02-23 11334 ENSG00000114383 OTTHUMG00000156877 uc003czy.2 AF055479 NM_007275 CCDS2819 O75896 "8780057|11593436" MGI:1931086 RGD:1561664 607052 HGNC:17034 "ENST00000232496.5|NM_007275.3" +HGNC:23963 TUSC2P1 TUSC2 pseudogene 1 pseudogene pseudogene Approved Yp11.2 Yp11.2 TUSC2P "tumor suppressor candidate 2 pseudogene|tumor suppressor candidate 2 pseudogene 1" 2009-10-22 2010-02-26 2018-02-23 2018-11-05 359794 ENSG00000285470 OTTHUMG00000192471 NG_002812 "12815422|24394498" HGNC:23963 +HGNC:53818 TUSC2P2 TUSC2 pseudogene 2 pseudogene pseudogene Approved Xq21.32 Xq21.32 2018-02-23 2018-10-03 112552163 ENSG00000285445 OTTHUMG00000192470 NG_059297 HGNC:53818 +HGNC:30242 TUSC3 tumor suppressor candidate 3 protein-coding gene gene with protein product Approved 8p22 08p22 "MGC13453|N33|OST3A|MRT7|MagT2|SLC58A2" "oligosaccharyltransferase 3 homolog A (S. cerevisiae)|Magnesium uptake/transporter TUSC3" MRT22 mental retardation, non-syndromic, autosomal recessive, 22 "Oligosaccharyltransferase complex subunits|Solute carriers" "445|752" 2004-01-20 2019-07-09 7991 ENSG00000104723 OTTHUMG00000094803 uc003wwt.4 AK026149 NM_006765 "CCDS5993|CCDS5994" Q13454 "8661104|10097140" MGI:1933134 RGD:1303318 601385 159945 objectId:3040 HGNC:30242 "ENST00000503731.6|NM_006765.4" HGNC:30242 +HGNC:27701 TUSC7 tumor suppressor candidate 7 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 "LINC00902|LOC285194" "NCRNA00295|LSAMP-AS3" "non-protein coding RNA 295|LSAMP antisense RNA 3|tumor suppressor candidate 7 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2010-11-18 2013-05-21 2018-05-16 2018-05-16 285194 ENSG00000243197 OTTHUMG00000159329 BC035185 NR_015391 "20048075|23680400|28214867" 616057 tusc7 TUSC7 HGNC:27701 +HGNC:49111 TUSC8 tumor suppressor candidate 8 non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 XLOC_010588 LINC01071 "long intergenic non-protein coding RNA 1071|tumor suppressor candidate 8 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2013-09-05 2014-03-31 2018-05-16 2018-05-16 400128 ENSG00000237361 OTTHUMG00000016834 BC025370 NR_104174 24667250 TUSC8 HGNC:49111 +HGNC:26184 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FLJ22347|FLJ22267|FLJ21850|PAPD2|TUTase|TENT1" "RNA uridylyltransferase|U6 TUTase|TUTase 6" RBM21 RNA binding motif protein 21 "RNA binding motif containing|Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "725|1318|1619" 2004-04-07 2006-10-06 2006-10-06 2018-04-20 64852 ENSG00000149016 OTTHUMG00000158564 uc001nto.2 BC005013 NM_022830 CCDS8021 Q9H6E5 16790842 MGI:1917294 RGD:1561043 610641 "2.7.7.52|2.7.7.19" HGNC:26184 "ENST00000476907.6|NM_022830.3" +HGNC:28981 TUT4 terminal uridylyl transferase 4 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "KIAA0191|PAPD3|TENT3A" TUTase4 ZCCHC11 zinc finger CCHC-type containing 11 "Zinc fingers CCHC-type|Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "74|1318|1619" 2004-04-07 2018-04-20 2018-04-20 2020-11-17 23318 ENSG00000134744 OTTHUMG00000008200 uc001cty.3 D83776 NM_001009881 "CCDS30715|CCDS30716" Q5TAX3 "8724849|12239557" MGI:2445126 RGD:1310138 613692 HGNC:28981 "ENST00000257177.9|NM_001009881.3" +HGNC:25817 TUT7 terminal uridylyl transferase 7 protein-coding gene gene with protein product Approved 9q21.33 09q21.33 "KIAA1711|FLJ13409|PAPD6|TENT3B" TUTase7 ZCCHC6 zinc finger CCHC-type containing 6 "Zinc fingers CCHC-type|Non-canonical poly(A) polymerases|Terminal nucleotidyltransferases" "74|1318|1619" 2004-01-05 2018-04-20 2018-04-20 2020-11-17 79670 ENSG00000083223 OTTHUMG00000020137 uc004aoq.4 AL832026 NM_024617 "CCDS83383|CCDS55323|CCDS35057" Q5VYS8 11214970 MGI:2387179 RGD:1586015 613467 HGNC:25817 "ENST00000375963.8|NM_024617.4" +HGNC:20398 TVP23A trans-golgi network vesicle protein 23 homolog A protein-coding gene gene with protein product Approved 16p13.13 16p13.13 YDR084C FAM18A "family with sequence similarity 18, member A|trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)" 2003-04-03 2012-11-29 2016-03-31 2020-04-20 780776 ENSG00000166676 OTTHUMG00000177389 uc059qtc.1 NM_001079512 CCDS45408 A6NH52 MGI:3665441 RGD:1566405 HGNC:20398 "ENST00000299866.13|NM_001079512.4" +HGNC:20399 TVP23B trans-golgi network vesicle protein 23 homolog B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "CGI-148|YDR084C" "FAM18B|FAM18B1" "family with sequence similarity 18, member B|family with sequence similarity 18, member B1|trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)" 2003-04-03 2012-11-29 2016-09-29 2016-09-29 51030 ENSG00000171928 OTTHUMG00000059052 uc002gum.3 AF151906 NM_016078 "CCDS42274|CCDS82084" Q9NYZ1 10810093 MGI:1914760 RGD:1586539 HGNC:20399 "ENST00000307767.13|NM_016078.6" +HGNC:31127 TVP23BP1 TVP23B pseudogene 1 pseudogene pseudogene Approved 15q12 15q12 FAM18B3P "family with sequence similarity 18, member B3, pseudogene|trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) pseudogene 1" 2010-08-18 2012-11-29 2013-10-18 2016-07-25 100129124 ENSG00000259122 OTTHUMG00000171825 NG_022121 PGOHUM00000293145 HGNC:31127 +HGNC:38869 TVP23BP2 TVP23B pseudogene 2 pseudogene pseudogene Approved 2p13.1 02p13.1 FAM18B4P "family with sequence similarity 18, member B4, pseudogene|trans-golgi network vesicle protein 23 homolog B (S. cerevisiae) pseudogene 2" 2010-08-18 2012-11-29 2013-10-18 2016-07-25 100421473 ENSG00000108442 OTTHUMG00000152917 NG_023571 PGOHUM00000297918 HGNC:38869 +HGNC:30453 TVP23C trans-golgi network vesicle protein 23 homolog C protein-coding gene gene with protein product Approved 17p12 17p12 MGC8763 FAM18B2 "family with sequence similarity 18, member B2|trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)" 2005-08-25 2012-11-29 2016-09-29 2016-09-29 201158 ENSG00000175106 OTTHUMG00000171461 uc010cor.3 BC011952 NM_145301 "CCDS45617|CCDS11170" Q96ET8 HGNC:30453 "ENST00000518321.6|NM_001135036.2" +HGNC:42961 TVP23C-CDRT4 TVP23C-CDRT4 readthrough other readthrough Approved 17p12 17p12 FAM18B2-CDRT4 FAM18B2-CDRT4 readthrough 2011-09-28 2012-11-29 2012-11-29 2012-11-29 100533496 ENSG00000259024 OTTHUMG00000165004 uc032eus.2 NM_001204478 CCDS56021 MGI:1914760 HGNC:42961 +HGNC:44646 TVP23CP1 TVP23C pseudogene 1 pseudogene pseudogene Approved 7q21.13 07q21.13 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) pseudogene 1 2012-11-29 2013-10-18 2013-10-18 100421599 ENSG00000223584 OTTHUMG00000033493 NG_026605 PGOHUM00000233467 HGNC:44646 +HGNC:44647 TVP23CP2 TVP23C pseudogene 2 pseudogene pseudogene Approved 16p13.12 16p13.12 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) pseudogene 2 2012-11-29 2013-10-18 2013-10-18 261735 ENSG00000262470 OTTHUMG00000177382 NG_002361 PGOHUM00000248988 HGNC:44647 +HGNC:9620 TWF1 twinfilin actin binding protein 1 protein-coding gene gene with protein product Approved 12q12 12q12 A6 PTK9 "protein tyrosine kinase 9|PTK9 protein tyrosine kinase 9|twinfilin, actin-binding protein, homolog 1 (Drosophila)" 1997-12-17 2006-11-13 2015-04-29 2016-04-25 5756 ENSG00000151239 OTTHUMG00000169426 uc001roa.4 U02680 NM_002822 "CCDS55818|CCDS31780" Q12792 7507208 MGI:1100520 RGD:1311872 610932 objectId:2266 HGNC:9620 "ENST00000395510.7|NM_002822.5" +HGNC:21736 TWF1P1 twinfilin 1 pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 A6ps1 PTK9P1 protein tyrosine kinase 9 pseudogene 1 2005-01-19 2007-12-18 2007-12-18 2017-10-25 619519 ENSG00000178082 OTTHUMG00000179542 NG_005328 PGOHUM00000294044 HGNC:21736 +HGNC:21737 TWF1P2 twinfilin 1 pseudogene 2 pseudogene pseudogene Approved Xq28 Xq28 A6ps2 PTK9P2 protein tyrosine kinase 9 pseudogene 2 2005-01-19 2007-12-18 2007-12-18 2020-07-17 494555 ENSG00000225008 NG_027797 HGNC:21737 +HGNC:9621 TWF2 twinfilin actin binding protein 2 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "A6RP|A6r" PTK9L "protein tyrosine kinase 9-like (A6-related protein)|PTK9L protein tyrosine kinase 9-like (A6-related protein)|twinfilin, actin-binding protein, homolog 2 (Drosophila)" 1999-09-28 2006-11-13 2015-04-29 2016-10-05 11344 ENSG00000247596 OTTHUMG00000158105 uc003ddd.4 Y17169 NM_007284 CCDS2849 Q6IBS0 "10406962|12807912" MGI:1346078 RGD:1591460 607433 objectId:2267 HGNC:9621 "ENST00000305533.10|NM_007284.4" +HGNC:55619 TWF2-DT TWF2 divergent transcript non-coding RNA RNA, long non-coding Approved 3p21.2 03p21.2 Divergent transcripts 1990 2021-06-21 2021-06-21 101929054 ENSG00000243224 NR_135307 +HGNC:12428 TWIST1 twist family bHLH transcription factor 1 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 "SCS|H-twist|BPES2|bHLHa38|CRS1" Saethre-Chotzen syndrome "ACS3|BPES3|TWIST|CRS" "blepharophimosis, epicanthus inversus and ptosis 3|acrocephalosyndactyly 3|twist homolog 1 (Drosophila)|twist basic helix-loop-helix transcription factor 1|craniosynostosis" Basic helix-loop-helix proteins 420 1997-07-01 2003-03-28 2013-10-17 2021-05-26 7291 ENSG00000122691 OTTHUMG00000090821 uc003sum.3 U80998 NM_000474 CCDS5367 Q15672 "8995765|11474656|17343269" MGI:98872 RGD:621455 601622 120345 HGNC:12428 "ENST00000242261.6|NM_000474.4" HGNC:12428 +HGNC:20670 TWIST2 twist family bHLH transcription factor 2 protein-coding gene gene with protein product Approved 2q37.3 02q37.3 "DERMO1|Dermo-1|bHLHa39" "twist homolog 2 (Drosophila)|twist basic helix-loop-helix transcription factor 2" Basic helix-loop-helix proteins 420 2003-03-25 2013-10-17 2021-05-26 117581 ENSG00000233608 OTTHUMG00000152836 uc032owz.2 BC017907 NM_001271893 CCDS46558 Q8WVJ9 "7589808|9061034" MGI:104685 RGD:621286 607556 239021 HGNC:20670 "ENST00000612363.2|NM_001271893.4" HGNC:20670 +HGNC:1160 TWNK twinkle mtDNA helicase protein-coding gene gene with protein product Approved 10q24.31 10q24.31 "PEO|PEO1|TWINKLE|FLJ21832|TWINL" T7 helicase-related protein with intramitochondrial nucleoid localization "IOSCA|C10orf2" "infantile onset spinocerebellar ataxia (autosomal recessive)|chromosome 10 open reading frame 2" DNA helicases 1167 2000-08-11 2016-10-11 2016-10-11 2021-05-26 56652 ENSG00000107815 OTTHUMG00000018917 uc001ksf.3 AF292004 NM_021830 "CCDS7506|CCDS53570|CCDS86136|CCDS86137" Q96RR1 "11431692|10645945|16135556" MGI:2137410 RGD:1307884 606075 159897 HGNC:1160 "ENST00000311916.8|NM_021830.5" HGNC:1160 +HGNC:12429 TWSG1 twisted gastrulation BMP signaling modulator 1 protein-coding gene gene with protein product Approved 18p11.22 18p11.22 TSG twisted gastrulation homolog 1 (Drosophila) 2000-02-16 2013-10-03 2016-10-05 57045 ENSG00000128791 OTTHUMG00000131597 uc002knz.3 AA486291 NM_020648 CCDS11844 Q9GZX9 11260715 MGI:2137520 RGD:1311215 605049 471280 HGNC:12429 "ENST00000262120.10|NM_020648.6" +HGNC:55329 TWSG1-DT TWSG1 divergent transcript non-coding RNA RNA, long non-coding Approved 18p11.22 18p11.22 Divergent transcripts 1990 2020-10-21 2020-10-21 102724397 ENSG00000264964 XR_007066279 +HGNC:12434 TXK TXK tyrosine kinase protein-coding gene gene with protein product Approved 4p12 04p12 "TKL|PSCTK5|BTKL|RLK" PTK4 PTK4 protein tyrosine kinase 4 "SH2 domain containing|Tec family tyrosine kinases" "741|1457" 1994-12-08 2003-04-01 2015-08-27 7294 ENSG00000074966 OTTHUMG00000102065 uc003gxx.4 L27071 NM_003328 CCDS3480 P42681 "7951233|7528718" MGI:102960 RGD:1306481 600058 objectId:2268 2.7.10.1 HGNC:12434 "ENST00000264316.9|NM_003328.3" +HGNC:30685 TXLNA taxilin alpha protein-coding gene gene with protein product Approved 1p35.2 01p35.2 DKFZp451J0118 2005-07-29 2016-10-05 200081 ENSG00000084652 OTTHUMG00000004423 uc001bui.4 AF516206 NM_175852 CCDS353 P40222 "15184072|14623251" MGI:105968 RGD:1583435 608676 HGNC:30685 "ENST00000373610.8|NM_175852.4" +HGNC:21617 TXLNB taxilin beta protein-coding gene gene with protein product Approved 6q24.1 06q24.1 "DKFZp451A175|MDP77|dJ522B19.2" C6orf198 chromosome 6 open reading frame 198 2003-06-27 2005-07-29 2005-07-29 2016-10-05 167838 ENSG00000164440 OTTHUMG00000015688 uc063rxd.1 NM_153235 CCDS34545 Q8N3L3 15184072 MGI:2671945 RGD:1307979 611438 HGNC:21617 "ENST00000358430.8|NM_153235.4" +HGNC:18578 TXLNG taxilin gamma protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "FLJ11209|LSR5|FIAT|MGC126621|MGC126625|TXLNGX" "lipopolysaccharide specific response-5 protein|factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription" CXorf15 chromosome X open reading frame 15 2002-05-22 2010-04-20 2010-04-20 2020-04-02 55787 ENSG00000086712 OTTHUMG00000021196 uc004cxq.3 AK002071 NM_018360 "CCDS55373|CCDS14178" Q9NUQ3 "15911876|15184072|16831913" MGI:3590652 RGD:1564371 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CXorf15 300677 HGNC:18578 "ENST00000380122.10|NM_018360.3" +HGNC:18473 TXLNGY taxilin gamma pseudogene, Y-linked pseudogene pseudogene Approved Yq11.222-q11.223 Yq11.222-q11.223 "CYorf15A|CYorf15B|TXLNG2P" "chromosome Y open reading frame 15A|chromosome Y open reading frame 15B|taxilin gamma 2, pseudogene" 2002-05-22 2014-05-07 2014-05-07 2018-02-13 246126 ENSG00000131002 OTTHUMG00000036509 AF332224 NR_045128 Q9BZA5 400031 PGOHUM00000263540 HGNC:18473 +HGNC:12435 TXN thioredoxin protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "TRX|Trx80" 1990-02-05 2021-01-26 7295 ENSG00000136810 OTTHUMG00000020480 uc004bep.3 X77584 NM_001244938 "CCDS59139|CCDS35103" P10599 MGI:98874 RGD:621157 187700 HGNC:12435 "ENST00000374517.6|NM_003329.4" +HGNC:17772 TXN2 thioredoxin 2 protein-coding gene gene with protein product Approved 22q12.3 22q12.3 MT-TRX 2002-02-13 2016-10-05 25828 ENSG00000100348 OTTHUMG00000150596 uc003apk.2 U78678 NM_012473 CCDS13928 Q99757 "9006939|17220299" MGI:1929468 RGD:71040 609063 HGNC:17772 "ENST00000216185.7|NM_012473.4" HGNC:17772 +HGNC:54554 TXN2P1 TXN2 pseudogene 1 pseudogene pseudogene Approved 1p31.1 01p31.1 2019-10-14 2019-10-14 100505690 ENSG00000213540 NG_029705 +HGNC:16470 TXNDC2 thioredoxin domain containing 2 protein-coding gene gene with protein product Approved 18p11.31-p11.2 18p11.31-p11.2 SPTRX1 sperm-specific thioredoxin 1 thioredoxin domain containing 2 (spermatozoa) Thioredoxin domain containing 1883 2001-08-30 2007-08-16 2016-03-31 2018-08-22 84203 ENSG00000168454 OTTHUMG00000131602 uc002koh.5 AF080095 NM_032243 "CCDS11846|CCDS42414" Q86VQ3 "11230166|11399755" MGI:2389312 RGD:1359251 617790 HGNC:16470 "ENST00000357775.6|NM_032243.6" +HGNC:21073 TXNDC5 thioredoxin domain containing 5 protein-coding gene gene with protein product Approved 6p24.3 06p24.3 "MGC3178|FLJ21353|FLJ90810|EndoPDI|Hcc-2|ERp46|PDIA15" protein disulfide isomerase family A, member 15 "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2003-05-15 2016-03-31 2017-12-06 81567 ENSG00000239264 OTTHUMG00000014216 uc003mxv.4 AK025006 NM_030810 "CCDS47369|CCDS4505" Q8NBS9 MGI:2145316 RGD:2323973 616412 HGNC:21073 "ENST00000379757.9|NM_030810.5" +HGNC:31454 TXNDC8 thioredoxin domain containing 8 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "bA427L11.2|TRX6|SPTRX-3" sperm-specific thioredoxin 3 thioredoxin domain containing 8 (spermatozoa) Thioredoxin domain containing 1883 2004-05-27 2007-08-16 2016-03-31 2016-03-31 255220 ENSG00000204193 OTTHUMG00000020481 uc004bes.5 BC035743 NM_001003936 "CCDS69639|CCDS75872|CCDS35104" Q6A555 MGI:1914652 RGD:1303121 617789 HGNC:31454 "ENST00000423740.7|NM_001286946.2" +HGNC:24110 TXNDC9 thioredoxin domain containing 9 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 APACD Thioredoxin domain containing 1883 2004-05-12 2019-03-20 10190 ENSG00000115514 OTTHUMG00000130641 uc002szz.4 BC005968 NM_005783 CCDS2044 O14530 23210642 MGI:2138153 RGD:708355 612564 HGNC:24110 "ENST00000264255.8|NM_005783.4" +HGNC:28030 TXNDC11 thioredoxin domain containing 11 protein-coding gene gene with protein product Approved 16p13.13 16p13.13 EFP1 EF-hand binding protein 1 Thioredoxin domain containing 1883 2005-01-07 2020-04-01 51061 ENSG00000153066 OTTHUMG00000177467 uc002dbg.2 BC013727 NM_015914 "CCDS32387|CCDS76822" Q6PKC3 "8619474|9110174" MGI:1923620 RGD:1307538 617792 HGNC:28030 "ENST00000283033.10|NM_015914.7" +HGNC:24626 TXNDC12 thioredoxin domain containing 12 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "TLP19|ERP18|ERP19|hAG-1|AGR1|PDIA16" "endoplasmic reticulum thioredoxin superfamily member, 18 kDa|anterior gradient homolog 1 (Xenopus laevis)|protein disulfide isomerase family A, member 16" thioredoxin domain containing 12 (endoplasmic reticulum) "Protein disulfide isomerases|Thioredoxin domain containing " "692|1883" 2005-06-06 2016-03-31 2016-03-31 51060 ENSG00000117862 OTTHUMG00000008629 uc001cti.5 AF131758 NM_015913 CCDS561 O95881 "8619474|9110174" MGI:1913323 RGD:1305960 609448 HGNC:24626 "ENST00000371626.9|NM_015913.4" +HGNC:30008 TXNDC12-AS1 TXNDC12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p32.3 01p32.3 Antisense RNAs 1987 2013-09-05 2014-11-19 104355143 ENSG00000228369 OTTHUMG00000008632 AI221303 NR_126385 TXNDC12-AS1 HGNC:30008 +HGNC:20652 TXNDC15 thioredoxin domain containing 15 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "2310047H23Rik|FLJ22625" C5orf14 chromosome 5 open reading frame 14 Thioredoxin domain containing 1883 2004-04-27 2007-08-16 2007-08-16 2016-12-12 79770 ENSG00000113621 OTTHUMG00000129115 uc003lac.2 AK026278 NM_024715 CCDS4180 Q96J42 27894351 MGI:1916922 RGD:1304696 617778 HGNC:20652 "ENST00000358387.9|NM_024715.4" HGNC:20652 +HGNC:19965 TXNDC16 thioredoxin domain containing 16 protein-coding gene gene with protein product Approved 14q22.1 14q22.1 KIAA1344 KIAA1344 Thioredoxin domain containing 1883 2003-11-21 2007-08-16 2007-08-16 2019-08-20 57544 ENSG00000087301 OTTHUMG00000171103 uc001wzs.4 AB037765 NM_020784 CCDS32083 Q9P2K2 MGI:1917811 RGD:1306755 616179 HGNC:19965 "ENST00000281741.9|NM_020784.3" +HGNC:28218 TXNDC17 thioredoxin domain containing 17 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MGC14353|TRP14" thioredoxin (Trx)-related protein, 14 kDa TXNL5 thioredoxin-like 5 Thioredoxin domain containing 1883 2004-03-05 2007-08-16 2007-08-16 2017-05-15 84817 ENSG00000129235 OTTHUMG00000102053 uc002gdf.5 BC006405 NM_032731 CCDS11077 Q9BRA2 "14607844|14607843|24778250" MGI:1289248 RGD:1308868 616967 HGNC:28218 "ENST00000250101.10|NM_032731.4" +HGNC:16952 TXNIP thioredoxin interacting protein protein-coding gene gene with protein product Approved 1q21.1 01q21.1 "VDUP1|EST01027|HHCPA78|THIF|ARRDC6" "upregulated by 1,25-dihydroxyvitamin D-3|thioredoxin binding protein 2" Alpha arrestins 1311 2001-12-12 2016-10-05 10628 ENSG00000265972 OTTHUMG00000013755 uc031utr.2 S73591 NM_006472 "CCDS81368|CCDS72876" Q9H3M7 8086474 MGI:1889549 RGD:620886 606599 HGNC:16952 "ENST00000582401.6|NM_006472.6" +HGNC:12436 TXNL1 thioredoxin like 1 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 "Txl|TRP32" thioredoxin-like, 32kD TXNL "thioredoxin-like, 32kDa|thioredoxin-like 1" 1998-11-26 2004-05-07 2015-12-01 2015-12-01 9352 ENSG00000091164 OTTHUMG00000132722 uc002lgi.4 AF003938 NM_004786 CCDS11961 O43396 "9473519|9668102" MGI:1860078 RGD:621717 603049 HGNC:12436 "ENST00000217515.11|NM_004786.3" +HGNC:39459 TXNL1P1 thioredoxin like 1 pseudogene 1 pseudogene pseudogene Approved 13q31.1 13q31.1 thioredoxin-like 1 pseudogene 1 2011-01-17 2015-12-01 2015-12-01 100419095 ENSG00000231879 OTTHUMG00000017161 NG_024942 PGOHUM00000248656 HGNC:39459 +HGNC:30551 TXNL4A thioredoxin like 4A protein-coding gene gene with protein product Approved 18q23 18q23 "U5-15kD|DIM1|HsT161|DIB1|SNRNP15" similar to S. pombe dim1+ TXNL4 "thioredoxin-like 4|thioredoxin-like 4A" U5 small nuclear ribonucleoprotein 1503 2004-01-08 2004-08-12 2015-12-01 2019-02-01 10907 ENSG00000141759 OTTHUMG00000180376 uc002lnp.4 AF023612 NM_006701 "CCDS32852|CCDS82260" P83876 11015569 MGI:1351613 RGD:6492735 611595 419132 HGNC:30551 "ENST00000269601.10|NM_006701.5" HGNC:30551 +HGNC:54569 TXNL4AP1 TXNL4A pseudogene 1 pseudogene pseudogene Approved 2q31.3 02q31.3 2019-10-16 2019-10-16 100131482 ENSG00000213126 NG_023335 +HGNC:26041 TXNL4B thioredoxin like 4B protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "FLJ20511|DLP|Dim2" thioredoxin-like 4B 2004-08-11 2015-12-01 2015-12-01 54957 ENSG00000140830 OTTHUMG00000173453 uc010vmn.3 BC009646 NM_017853 CCDS10906 Q9NX01 15161931 MGI:2443724 RGD:1305127 617722 HGNC:26041 "ENST00000268483.8|NM_017853.3" +HGNC:49481 TXNP1 thioredoxin pseudogene 1 pseudogene pseudogene Approved 10q26.11 10q26.11 2013-12-20 2013-12-20 93202 ENSG00000232823 OTTHUMG00000019154 NG_001297 PGOHUM00000238638 HGNC:49481 +HGNC:49482 TXNP2 thioredoxin pseudogene 2 pseudogene pseudogene Approved 1p31.2 01p31.2 2013-12-20 2013-12-20 171416 ENSG00000225167 OTTHUMG00000009205 NG_001321 PGOHUM00000244067 HGNC:49482 +HGNC:49483 TXNP3 thioredoxin pseudogene 3 pseudogene pseudogene Approved 1p13.2 01p13.2 2013-12-20 2013-12-20 171419 ENSG00000234388 OTTHUMG00000011153 NG_001324 PGOHUM00000244850 HGNC:49483 +HGNC:49484 TXNP4 thioredoxin pseudogene 4 pseudogene pseudogene Approved 17p13.2 17p13.2 2013-12-20 2013-12-20 124974 ENSG00000262519 OTTHUMG00000177829 NG_001303 PGOHUM00000237203 HGNC:49484 +HGNC:49485 TXNP5 thioredoxin pseudogene 5 pseudogene pseudogene Approved 2q23.2 02q23.2 2013-12-20 2013-12-20 151276 ENSG00000228236 OTTHUMG00000153761 NG_001309 PGOHUM00000240383 HGNC:49485 +HGNC:49486 TXNP6 thioredoxin pseudogene 6 pseudogene pseudogene Approved 4q21.1 04q21.1 2013-12-20 2013-12-20 171560 ENSG00000234036 OTTHUMG00000160877 NG_001330 PGOHUM00000245597 HGNC:49486 +HGNC:49487 TXNP7 thioredoxin pseudogene 7 pseudogene pseudogene Approved 6q13 06q13 2013-12-20 2013-12-20 106480275 ENSG00000217268 OTTHUMG00000015041 NG_062459 PGOHUM00000243250 HGNC:49487 +HGNC:12437 TXNRD1 thioredoxin reductase 1 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 "TXNR|GRIM-12|Trxr1" selenoprotein TXNRD1 "Selenoproteins|Glutaredoxin domain containing" "890|1468" 1996-12-30 2020-08-14 7296 ENSG00000198431 OTTHUMG00000166481 uc021rcx.3 NM_003330 "CCDS53821|CCDS53823|CCDS58274|CCDS53820" Q16881 7589432 MGI:1354175 RGD:61959 601112 471282 HGNC:12437 "ENST00000525566.6|NM_001093771.3" +HGNC:18155 TXNRD2 thioredoxin reductase 2 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "TR|TRXR2|TR3|SELZ" "thioredoxin reductase beta|selenoprotein Z" Selenoproteins 890 2002-02-22 2021-05-26 10587 ENSG00000184470 OTTHUMG00000149975 uc021wlj.4 AF106697 NM_006440 "CCDS86998|CCDS87000|CCDS42981|CCDS63402|CCDS87001|CCDS86999" Q9NNW7 "9923614|10215850|11012661" MGI:1347023 RGD:61960 LRG_417|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_417.xml 606448 286619 HGNC:18155 "ENST00000400521.7|NM_006440.5" HGNC:18155 +HGNC:20667 TXNRD3 thioredoxin reductase 3 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "TR2|TRXR3|TGR|TR2IT1|TXNRD3NT1" "thioredoxin glutathione reductase|selenoprotein TXNRD3" "TXNRD3NB|TXNRD3IT1" "thioredoxin reductase 3 neighbor|thioredoxin reductase 3 intronic transcript 1" "Selenoproteins|Glutaredoxin domain containing" "890|1468" 2003-09-11 2020-08-14 114112 ENSG00000197763 OTTHUMG00000162733 uc003ejd.3 AF133519 NM_052883 "CCDS77811|CCDS77810" Q86VQ6 "10455115|12530083" MGI:2386711 RGD:1308363 606235 HGNC:20667 "ENST00000524230.9|NM_052883.3" +HGNC:12440 TYK2 tyrosine kinase 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 JTK1 "FERM domain containing|Jak family tyrosine kinases" "1293|1459" 1990-09-10 2021-05-26 7297 ENSG00000105397 OTTHUMG00000166373 uc002moc.5 NM_001385197 CCDS12236 P29597 2156206 MGI:1929470 RGD:2320469 "TYK2base: Mutation registry for TYK2 deficiency|http://structure.bmc.lu.se/idbase/TYK2base/|LRG_121|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_121.xml" 176941 159075 objectId:2269 2.7.10.1 HGNC:12440 "ENST00000525621.6|NM_003331.5" HGNC:12440 +HGNC:3148 TYMP thymidine phosphorylase protein-coding gene gene with protein product Approved 22q13.33 22q13.33 gliostatin "MNGIE|ECGF1" endothelial cell growth factor 1 (platelet-derived) Minor histocompatibility antigens 870 1991-06-27 2008-01-21 2008-01-21 2021-04-13 1890 ENSG00000025708 OTTHUMG00000150249 uc003bmc.7 M63193 NM_001953 "CCDS58811|CCDS14096" P19971 "1590793|11733540" MGI:1920212 RGD:1305756 LRG_727|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_727.xml 131222 159550 2.4.2.4 HGNC:3148 "ENST00000252029.8|NM_001953.5" HGNC:3148 +HGNC:12441 TYMS thymidylate synthetase protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "Tsase|TMS|HsT422" TS 1990-09-10 2021-04-13 7298 ENSG00000176890 OTTHUMG00000131473 uc010dka.2 X02308 NM_001071 "CCDS11821|CCDS86658|CCDS86659" P04818 MGI:98878 RGD:3921 LRG_783|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_783.xml 188350 241969 objectId:2642 2.1.1.45 HGNC:12441 "ENST00000323274.15|NM_001071.4" +HGNC:29553 TYMSOS TYMS opposite strand RNA non-coding RNA RNA, long non-coding Approved 18p11.32 18p11.32 C18orf56 "chromosome 18 open reading frame 56|TYMS opposite strand" Long non-coding RNAs with non-systematic symbols 1992 2005-01-12 2014-05-21 2021-02-11 2021-02-11 494514 ENSG00000176912 OTTHUMG00000178257 BC028301 NR_171001 Q8TAI1 HGNC:29553 +HGNC:52351 TYMSP1 thymidylate synthetase pseudogene 1 pseudogene pseudogene Approved 6q16.1 06q16.1 2016-07-28 2016-07-28 100419610 ENSG00000219139 OTTHUMG00000015241 NG_025965 PGOHUM00000301892 HGNC:52351 +HGNC:52352 TYMSP2 thymidylate synthetase pseudogene 2 pseudogene pseudogene Approved 19q13.12 19q13.12 2016-07-28 2020-04-06 109729122 ENSG00000267190 OTTHUMG00000182260 NG_052943 PGOHUM00000294986 HGNC:52352 +HGNC:12442 TYR tyrosinase protein-coding gene gene with protein product Approved 11q14.3 11q14.3 "OCAIA|OCA1A|OCA1" oculocutaneous albinism IA 1988-08-16 2012-09-28 2015-08-24 7299 ENSG00000077498 OTTHUMG00000167294 uc001pcs.4 M27160 NM_000372 CCDS8284 P14679 MGI:98880 RGD:1589755 "Albinism Database|http://albinismdb.med.umn.edu/|Mutations of the Tyrosinase Gene|http://www.retina-international.org/files/sci-news/tyrmut.htm" 606933 120353 objectId:2643 1.14.18.1 HGNC:12442 "ENST00000263321.6|NM_000372.5" HGNC:12442 +HGNC:12443 TYRL tyrosinase like (pseudogene) pseudogene pseudogene Approved 11p11.12 11p11.12 tyrosinase-like 1988-08-16 2019-02-18 2019-02-18 7300 ENSG00000123447 OTTHUMG00000166674 M63240 NG_001529 "1903356|8234203|17355913" 191270 PGOHUM00000257815 HGNC:12443 +HGNC:12446 TYRO3 TYRO3 protein tyrosine kinase protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "Dtk|Brt|Tif|Sky|Etk-2|Rek" RSE "Receptor tyrosine kinases|Fibronectin type III domain containing|I-set domain containing" "321|555|593" 1992-10-02 2016-10-05 7301 ENSG00000092445 OTTHUMG00000130341 uc001zof.3 D50479 NM_001330264 "CCDS10080|CCDS81866" Q06418 7851890 MGI:104294 RGD:3923 600341 objectId:1836 2.7.10.1 HGNC:12446 "ENST00000263798.8|NM_006293.4" +HGNC:12447 TYRO3P TYRO3P protein tyrosine kinase pseudogene pseudogene pseudogene Approved 15q24.2 15q24.2 1992-10-02 2012-04-04 7302 ENSG00000259581 OTTHUMG00000172619 X72887 NR_028510 7851890 PGOHUM00000262065 HGNC:12447 +HGNC:12449 TYROBP transmembrane immune signaling adaptor TYROBP protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "DAP12|PLO-SL|KARAP" "killer activating receptor associated protein|DNAX-activation protein 12|DNAX adaptor protein 12" PLOSL "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|TYRO protein tyrosine kinase binding protein" 1998-06-25 2019-10-03 2021-05-26 7305 ENSG00000011600 OTTHUMG00000181739 uc002ocm.4 AF019563 NM_001173514 "CCDS46058|CCDS59378|CCDS12482|CCDS54255" O43914 "9490415|10888890" MGI:1277211 RGD:1303081 LRG_607|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_607.xml 604142 120356 HGNC:12449 "ENST00000262629.9|NM_003332.4" HGNC:12449 +HGNC:12450 TYRP1 tyrosinase related protein 1 protein-coding gene gene with protein product Approved 9p23 09p23 "GP75|CATB|TRP|b-PROTEIN|OCA3" "TYRP|CAS2" 1991-09-04 2016-04-19 2021-05-26 7306 ENSG00000107165 OTTHUMG00000021034 uc003zkv.5 L33830 NM_000550 CCDS34990 P17643 9434945 MGI:98881 RGD:1593266 "Mutations of the Tyrosinase-related Protein 1 Gene|http://www.retina-international.org/files/sci-news/trp1mut.htm|Albinism Database|http://albinismdb.med.umn.edu/" 115501 120361 HGNC:12450 "ENST00000388918.10|NM_000550.3" HGNC:12450 +HGNC:28531 TYSND1 trypsin like peroxisomal matrix peptidase 1 protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "MGC34695|NET41" "peroxisomal cysteine endopeptidase|peroxisome leader peptide-processing protease|peroxisomal matrix protein–processing protease" trypsin domain containing 1 2004-05-27 2006-09-21 2020-07-31 2020-07-31 219743 ENSG00000156521 OTTHUMG00000018397 uc001jqr.5 BC016840 NM_173555 "CCDS31213|CCDS31214" Q2T9J0 17255948 MGI:1919017 RGD:1307354 611017 S01.286 HGNC:28531 "ENST00000287078.7|NM_173555.4" +HGNC:25598 TYW1 tRNA-yW synthesizing protein 1 homolog protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "FLJ10900|MGC23001|MGC60291|YPL207W|TYW1A" tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae) RSAFD1 "radical S-adenosyl methionine and flavodoxin domains 1|tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)" Radical S-adenosylmethionine domain containing 2036 2004-11-08 2007-11-29 2015-11-19 2015-11-19 55253 ENSG00000198874 OTTHUMG00000129723 uc003tvn.5 AK001762 NM_018264 CCDS5538 Q9NV66 "16162496|17150819" MGI:2141161 RGD:1310420 611243 HGNC:25598 "ENST00000359626.10|NM_018264.4" +HGNC:33908 TYW1B tRNA-yW synthesizing protein 1 homolog B protein-coding gene gene with protein product Approved 7q11.22-q11.23 07q11.22-q11.23 "RSAFD2|MGC87315|NCRNA00069|LINC00069" "radical S-adenosyl methionine and flavodoxin domains 1|non-protein coding RNA 69|long intergenic non-protein coding RNA 69" "tRNA-yW synthesizing protein 1 homolog B (non-protein coding)|tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)" Radical S-adenosylmethionine domain containing 2036 2007-11-29 2015-11-19 2018-02-13 441250 ENSG00000277149 OTTHUMG00000157067 uc032zqb.2 BC068520 NM_001145440 CCDS69309 Q6NUM6 MGI:2141161 HGNC:33908 "ENST00000620995.5|NM_001145440.3" +HGNC:41905 TYW1P1 tRNA-yW synthesizing protein 1 homolog pseudogene 1 pseudogene pseudogene Approved 2p22.3 02p22.3 2011-05-09 2011-05-09 100533847 NG_028887 HGNC:41905 +HGNC:24757 TYW3 tRNA-yW synthesizing protein 3 homolog protein-coding gene gene with protein product Approved 1p31.1 01p31.1 FLJ40918 C1orf171 "chromosome 1 open reading frame 171|tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)" 2005-07-20 2006-05-25 2015-11-19 2015-11-19 127253 ENSG00000162623 OTTHUMG00000009641 uc001dgn.4 BX647591 NM_138467 "CCDS666|CCDS53334" Q6IPR3 17150819 MGI:2445040 RGD:1559623 611245 HGNC:24757 "ENST00000370867.8|NM_138467.3" +HGNC:26754 TYW5 tRNA-yW synthesizing protein 5 protein-coding gene gene with protein product Approved 2q33.1 02q33.1 FLJ37953 C2orf60 chromosome 2 open reading frame 60 JmjC hydroxylases 1346 2007-07-10 2011-05-09 2011-05-09 2014-11-18 129450 ENSG00000162971 OTTHUMG00000132770 uc002uvi.5 AK095272 NM_001039693 CCDS42795 A2RUC4 20739293 MGI:1915986 RGD:1311269 HGNC:26754 "ENST00000354611.9|NM_001039693.3" +HGNC:12453 U2AF1 U2 small nuclear RNA auxiliary factor 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "U2AF35|RNU2AF1|RN" U2AFBP "U2(RNU2) small nuclear RNA auxiliary factor binding protein|U2(RNU2) small nuclear RNA auxiliary factor 1" "RNA binding motif containing|Spliceosomal A complex|Spliceosomal E complex" "725|1504|1522" 1994-11-10 2006-04-11 2021-05-26 7307 ENSG00000160201 OTTHUMG00000086836 uc002zdb.2 BC001177 NM_006758 "CCDS33574|CCDS13694|CCDS42948" Q01081 "8660980|7956352" MGI:98884 RGD:1584190 LRG_615|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_615.xml U2AF1 191317 471284 HGNC:12453 "ENST00000291552.9|NM_006758.3" +HGNC:23020 U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "MGC33901|U2af26" U2AF1L3 U2(RNU2) small nuclear RNA auxiliary factor 1-like 3 RNA binding motif containing 725 2003-09-24 2006-04-12 2016-07-11 2020-04-01 199746 ENSG00000161265 OTTHUMG00000182066 uc060xho.1 "BC021186|AY569437" NM_144987 "CCDS42551|CCDS12473" Q8WU68 "8586425|11739736" MGI:2678374 RGD:1305600 601080 HGNC:23020 "ENST00000378975.8|NM_001040425.3" +HGNC:23156 U2AF2 U2 small nuclear RNA auxiliary factor 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 U2AF65 "U2 small nuclear ribonucleoprotein auxiliary factor (65kD)|splicing factor U2AF 65 kD subunit|U2 snRNP auxiliary factor large subunit" U2 (RNU2) small nuclear RNA auxiliary factor 2 "RNA binding motif containing|Spliceosomal A complex|Spliceosomal E complex" "725|1504|1522" 2003-10-28 2006-04-11 2021-05-26 11338 ENSG00000063244 OTTHUMG00000180908 uc002qlu.4 BC008740 NM_007279 "CCDS46197|CCDS12933" P26368 1538748 MGI:98886 RGD:1310690 LRG_623|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_623.xml 191318 HGNC:23156 "ENST00000308924.9|NM_007279.3" +HGNC:30855 U2SURP U2 snRNP associated SURP domain containing protein-coding gene gene with protein product Approved 3q23 03q23 "fSAPa|SR140" "functional spliceosome-associated protein a|Ser/Arg-rich domain protein, 140 kDa|U2 associated SR140 protein" U2 snRNP-associated SURP domain containing "RNA binding motif containing|Spliceosomal A complex" "725|1504" 2011-02-07 2016-04-04 2016-04-04 23350 ENSG00000163714 OTTHUMG00000159323 uc003evh.2 BK000564 NM_001080415 CCDS46928 O15042 "9205841|12234937" MGI:1915208 RGD:1307882 617849 HGNC:30855 "ENST00000473835.7|NM_001080415.2" +HGNC:15947 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats protein-coding gene gene with protein product Approved 15q23 15q23 "FLJ10128|KIAA1561" nucling Ankyrin repeat domain containing 403 2001-06-29 2016-10-05 55075 ENSG00000137831 OTTHUMG00000133363 uc002asr.4 AF322916 NM_001008224 "CCDS32280|CCDS10235" Q9BZF9 "11162650|10997877" MGI:1919815 RGD:1560011 612516 HGNC:15947 "ENST00000322954.11|NM_018003.4" +HGNC:12457 UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "AGX1|AgX" "UDP-N-acetylglucosamine diphosphorylase 1|UDP-N-acetylhexosamine pyrophosphorylase 1" SPAG2 1998-11-26 2014-07-31 2016-10-05 6675 ENSG00000117143 OTTHUMG00000034419 uc001gce.5 AB011004 NM_003115 "CCDS1240|CCDS81393|CCDS81394" Q16222 "9603950|8025165" MGI:1334459 RGD:1561967 602862 2.7.7.23 HGNC:12457 +HGNC:55410 UAP1-DT UAP1 divergent transcript non-coding RNA RNA, long non-coding Approved 1q23.3 01q23.3 Divergent transcripts 1990 2021-01-06 2021-01-06 102724358 ENSG00000259788 XR_426859 +HGNC:28082 UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 2004-01-29 2014-07-31 2018-11-22 91373 ENSG00000197355 OTTHUMG00000020962 uc010ncb.3 AK022632 NM_207309 CCDS7028 Q3KQV9 MGI:2443318 RGD:1310630 HGNC:28082 "ENST00000409858.8|NM_207309.3" +HGNC:12469 UBA1 ubiquitin like modifier activating enzyme 1 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "UBE1X|POC20|CFAP124" "UBA1, ubiquitin-activating enzyme E1 homolog (yeast)|POC20 centriolar protein homolog (Chlamydomonas)" "A1S9T|GXP1|UBE1" "ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)|ubiquitin-activating enzyme E1|ubiquitin-like modifier activating enzyme 1" "Ubiquitin like modifier activating enzymes|Cilia and flagella associated" "100|1491" 1991-07-11 2007-11-30 2016-01-27 2021-05-26 7317 ENSG00000130985 OTTHUMG00000021436 uc004dhj.5 AF258566 NM_003334 CCDS14275 P22314 "1845793|33108101" MGI:98890 RGD:1359327 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UBA1 314370 140036 6.2.1.45 HGNC:12469 "ENST00000335972.11|NM_003334.4" HGNC:12469 +HGNC:30661 UBA2 ubiquitin like modifier activating enzyme 2 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "FLJ13058|HRIHFB2115" UBA2, ubiquitin-activating enzyme E1 homolog (yeast) SAE2 "SUMO1 activating enzyme subunit 2|ubiquitin-like modifier activating enzyme 2" Ubiquitin like modifier activating enzymes 100 2006-10-31 2007-11-30 2016-01-27 2021-05-26 10054 ENSG00000126261 OTTHUMG00000182090 uc002nvk.4 BC003153 NM_005499 CCDS12439 Q9UBT2 "10187858|9920803" MGI:1858313 RGD:1312023 613295 HGNC:30661 "ENST00000246548.9|NM_005499.3" HGNC:30661 +HGNC:12470 UBA3 ubiquitin like modifier activating enzyme 3 protein-coding gene gene with protein product Approved 3p14.1 03p14.1 "hUba3|NAE2" "NEDD8-activating enzyme E1 catalytic subunit|NEDD8-activating enzyme E1 subunit 2" UBE1C "ubiquitin-activating enzyme E1C (homologous to yeast UBA3)|ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)|ubiquitin-like modifier activating enzyme 3" Ubiquitin like modifier activating enzymes 100 1999-01-22 2007-11-30 2016-01-27 2016-01-27 9039 ENSG00000144744 OTTHUMG00000154325 uc003dno.4 AB012190 NM_198195 "CCDS87106|CCDS2910|CCDS2909" Q8TBC4 9694792 MGI:1341217 RGD:621084 603172 HGNC:12470 "ENST00000361055.9|NM_003968.4" +HGNC:23230 UBA5 ubiquitin like modifier activating enzyme 5 protein-coding gene gene with protein product Approved 3q22.1 03q22.1 FLJ23251 UBA5, ubiquitin-activating enzyme E1 homolog (yeast) UBE1DC1 "ubiquitin-activating enzyme E1-domain containing 1|ubiquitin-like modifier activating enzyme 5" Ubiquitin like modifier activating enzymes 100 2003-10-28 2007-11-30 2016-01-27 2021-05-26 79876 ENSG00000081307 OTTHUMG00000159759 uc003epa.5 AY253672 NM_024818 "CCDS3077|CCDS3076" Q9GZZ9 "11230166|15071506" MGI:1913913 RGD:1311702 610552 469050 HGNC:23230 "ENST00000356232.10|NM_024818.6" HGNC:23230 +HGNC:25581 UBA6 ubiquitin like modifier activating enzyme 6 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 FLJ10808 UBA6, ubiquitin-activating enzyme E1 UBE1L2 "ubiquitin-activating enzyme E1-like 2|ubiquitin-like modifier activating enzyme 6" Ubiquitin like modifier activating enzymes 100 2006-02-14 2007-11-30 2016-01-27 2016-01-27 55236 ENSG00000033178 OTTHUMG00000129299 uc003hdg.5 AK094164 NM_018227 CCDS3516 A0AVT1 17580310 MGI:1913894 RGD:1308324 611361 HGNC:25581 "ENST00000322244.10|NM_018227.6" HGNC:25581 +HGNC:49083 UBA6-DT UBA6 divergent transcript non-coding RNA RNA, long non-coding Approved 4q13.2 04q13.2 LOC550112 UBA6-AS1 UBA6 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-08-23 2021-04-23 2021-04-23 2022-01-05 550112 ENSG00000248049 OTTHUMG00000160769 NR_015439 34951345 UBA6-AS1 HGNC:49083 +HGNC:12471 UBA7 ubiquitin like modifier activating enzyme 7 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "D8|UBE2|UBA1B" "UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)|UBA7, ubiquitin-activating enzyme E1" UBE1L "ubiquitin-activating enzyme E1-like|ubiquitin-like modifier activating enzyme 7" "Ubiquitin like modifier activating enzymes|MicroRNA protein coding host genes" "100|1691" 1993-11-24 2007-11-30 2016-01-27 2016-10-05 7318 ENSG00000182179 OTTHUMG00000158267 uc003cxr.4 BC006378 NM_003335 CCDS2805 P41226 8327486 MGI:1349462 RGD:1308323 191325 HGNC:12471 "ENST00000333486.4|NM_003335.3" +HGNC:12458 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 protein-coding gene gene with protein product Approved 19p13.1-p12 19p13.1-p12 "RPL40|CEP52|HUBCEP52|MGC57125|MGC126879|MGC126881|L40" "ribosomal protein L40|ubiquitin-52 amino acid fusion protein|ubiquitin carboxyl extension protein 52|60S ribosomal protein L40|ubiquitin-CEP52" L ribosomal proteins 729 1992-07-31 2015-08-26 7311 ENSG00000221983 OTTHUMG00000183110 uc002njr.4 NM_003333 CCDS12382 P62987 8188300 MGI:98887 RGD:68344 191321 HGNC:12458 "ENST00000442744.7|NM_001033930.3" +HGNC:12459 UBA52P1 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 1 pseudogene pseudogene Approved 7p15.2 07p15.2 2009-03-01 2014-11-19 7312 M62405 NG_001207 "1330885|19123937" HGNC:12459 +HGNC:12460 UBA52P2 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 2 pseudogene pseudogene Approved 14q11.2 14q11.2 2009-03-01 2014-11-19 7313 M62406 NG_001208 "1330885|19123937" HGNC:12460 +HGNC:20056 UBA52P3 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 3 pseudogene pseudogene Approved 14q23.1 14q23.1 2009-03-01 2014-11-19 122837 ENSG00000243023 OTTHUMG00000158053 NG_002524 19123937 PGOHUM00000248185 HGNC:20056 +HGNC:35929 UBA52P4 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 4 pseudogene pseudogene Approved 3p22 03p22 2009-03-06 2009-03-11 100271030 NG_010942 19123937 HGNC:35929 +HGNC:36993 UBA52P5 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 5 pseudogene pseudogene Approved 8q24.13 08q24.13 2009-03-06 2017-10-25 100271031 ENSG00000243498 OTTHUMG00000158695 NG_010950 19123937 PGOHUM00000303670 HGNC:36993 +HGNC:36763 UBA52P6 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 6 pseudogene pseudogene Approved 9p21.3 09p21.3 2009-03-06 2014-11-19 100130239 ENSG00000215221 OTTHUMG00000019688 NG_010990 19123937 HGNC:36763 +HGNC:36615 UBA52P7 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 7 pseudogene pseudogene Approved 12q24.21 12q24.21 2009-03-06 2017-03-28 100128617 ENSG00000241656 OTTHUMG00000158498 NG_010545 19123937 PGOHUM00000291471 HGNC:36615 +HGNC:35625 UBA52P8 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 8 pseudogene pseudogene Approved 16q12.1 16q12.1 2009-03-06 2017-10-25 100271343 ENSG00000240793 OTTHUMG00000158140 NG_011237 19123937 PGOHUM00000293602 HGNC:35625 +HGNC:36169 UBA52P9 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 9 pseudogene pseudogene Approved 18q11.2 18q11.2 2009-03-06 2017-10-25 100271344 ENSG00000244329 OTTHUMG00000158402 NG_011241 19123937 PGOHUM00000294638 HGNC:36169 +HGNC:30221 UBAC1 UBA domain containing 1 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 "GBDR1|KPC2" Kip1 ubiquitination-promoting complex subunit 2 UBADC1 ubiquitin associated domain containing 1 2004-01-27 2007-04-20 2007-04-20 2016-08-02 10422 ENSG00000130560 OTTHUMG00000020920 uc004cgt.3 AF176796 NM_016172 CCDS35177 Q9BSL1 "10857748|8619474|15531880" MGI:1920995 RGD:1359542 608129 HGNC:30221 "ENST00000371756.4|NM_016172.3" +HGNC:20486 UBAC2 UBA domain containing 2 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 "FLJ30548|RP11-178C10.1" PHGDHL1 phosphoglycerate dehydrogenase like 1 "Rhomboid family|MicroRNA protein coding host genes" "926|1691" 2003-02-28 2007-04-20 2007-04-20 2015-08-26 337867 ENSG00000134882 OTTHUMG00000017267 uc001voa.5 AK055110 NM_177967 "CCDS45064|CCDS9490" Q8NBM4 MGI:1916139 RGD:1311689 285499 HGNC:20486 "ENST00000403766.8|NM_001144072.2" +HGNC:42502 UBAC2-AS1 UBAC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q32.3 13q32.3 UBAC2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-02 2012-08-15 2014-11-19 100289373 ENSG00000228889 OTTHUMG00000017261 uc001vny.3 NR_036531 UBAC2-AS1 HGNC:42502 +HGNC:29576 UBALD1 UBA like domain containing 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FAM100A "family with sequence similarity 100, member A|UBA-like domain containing 1" 2005-11-14 2012-11-30 2016-01-27 2016-01-27 124402 ENSG00000153443 OTTHUMG00000129472 uc002cwx.2 BC025327 NM_145253 "CCDS81944|CCDS10518" Q8TB05 MGI:1916255 RGD:1359443 HGNC:29576 "ENST00000283474.12|NM_145253.3" +HGNC:28438 UBALD2 UBA like domain containing 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 MGC29814 FAM100B "family with sequence similarity 100, member B|UBA-like domain containing 2" 2005-11-14 2012-11-30 2016-01-27 2016-01-27 283991 ENSG00000185262 OTTHUMG00000132666 uc010wsy.2 NM_182565 CCDS11742 Q8IYN6 MGI:1914635 RGD:1311298 HGNC:28438 "ENST00000327490.8|NM_182565.4" +HGNC:12461 UBAP1 ubiquitin associated protein 1 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 UBAP ubiquitin associated protein ESCRT-I 1116 2000-06-08 2002-08-30 2002-08-27 2021-05-26 51271 ENSG00000165006 OTTHUMG00000000430 uc003ztx.4 AF222043 NM_001171201 "CCDS55303|CCDS6550" Q9NZ09 21757351 MGI:2149543 RGD:1305186 609787 HGNC:12461 "ENST00000297661.9|NM_016525.5" HGNC:12461 +HGNC:40028 UBAP1L ubiquitin associated protein 1 like protein-coding gene gene with protein product Approved 15q22.31 15q22.31 2011-08-15 2015-11-16 2015-11-16 390595 ENSG00000246922 OTTHUMG00000172425 uc002aok.4 NM_001163692 CCDS53948 F5GYI3 MGI:2685360 RGD:1582742 HGNC:40028 "ENST00000559089.6|NM_001163692.2" +HGNC:14185 UBAP2 ubiquitin associated protein 2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "KIAA1491|bA176F3.5|FLJ22435" Small nucleolar RNA protein coding host genes 1835 2002-09-11 2016-10-05 55833 ENSG00000137073 OTTHUMG00000000427 uc003ztq.1 AB040924 NM_018449 "CCDS75828|CCDS6547" Q5T6F2 8871400 MGI:1916176 RGD:1311717 HGNC:14185 "ENST00000379238.7|NM_001370062.2" +HGNC:29877 UBAP2L ubiquitin associated protein 2 like protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "NICE-4|KIAA0144" ubiquitin associated protein 2-like Small nucleolar RNA protein coding host genes 1835 2004-09-14 2015-11-11 2015-11-11 9898 ENSG00000143569 OTTHUMG00000035983 uc001fep.5 BC003170 NM_014847 "CCDS44229|CCDS81381|CCDS72925|CCDS1063" Q14157 "8590280|11230159" MGI:1921633 RGD:1308707 616472 HGNC:29877 "ENST00000428931.6|NM_014847.4" +HGNC:12462 UBASH3A ubiquitin associated and SH3 domain containing A protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "STS-2|TULA|CLIP4" T-cell ubiquitin ligand protein 2000-05-02 2010-04-28 2015-08-13 53347 ENSG00000160185 OTTHUMG00000086805 uc002zbe.4 AJ277750 NM_001001895 "CCDS13687|CCDS58791|CCDS33566" P57075 11281453 MGI:1926074 RGD:1310305 605736 HGNC:12462 "ENST00000319294.11|NM_018961.4" +HGNC:29884 UBASH3B ubiquitin associated and SH3 domain containing B protein-coding gene gene with protein product Approved 11q24.1 11q24.1 "KIAA1959|STS-1|TULA2|TULA-2" "SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate|T-cell ubiquitin ligand 2" Protein phosphatases 703 2007-12-07 2010-04-28 2017-03-10 84959 ENSG00000154127 OTTHUMG00000166025 uc001pyi.5 AB075839 NM_032873 CCDS31694 Q8TF42 "11853319|12370296|23784775" MGI:1920078 RGD:1310357 609201 HGNC:29884 "ENST00000284273.6|NM_032873.5" +HGNC:12463 UBB ubiquitin B protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "MGC8385|FLJ25987" polyubiquitin B 1990-03-06 2016-10-05 7314 ENSG00000170315 OTTHUMG00000058987 uc002gpx.5 NM_018955 CCDS11177 P0CG47 2154095 MGI:98888 RGD:621562 191339 477022 HGNC:12463 "ENST00000302182.8|NM_018955.4" HGNC:12463 +HGNC:12464 UBBP1 ubiquitin B pseudogene 1 pseudogene pseudogene Approved 2q22.1 02q22.1 1990-03-12 2011-08-10 7315 ENSG00000230037 OTTHUMG00000153582 X04801 NG_002284 PGOHUM00000259767 HGNC:12464 +HGNC:12465 UBBP2 ubiquitin B pseudogene 2 pseudogene pseudogene Approved 1q41 01q41 1999-08-06 2010-11-25 23668 ENSG00000228247 OTTHUMG00000038050 X04802 NG_002287 3029682 PGOHUM00000244419 HGNC:12465 +HGNC:12466 UBBP3 ubiquitin B pseudogene 3 pseudogene pseudogene Approved 2q23.1 02q23.1 1999-08-06 2011-08-10 23667 ENSG00000223962 OTTHUMG00000153738 Y00332 NG_002286 "3035490|3029682" PGOHUM00000240380 HGNC:12466 +HGNC:12467 UBBP4 ubiquitin B pseudogene 4 pseudogene pseudogene Approved 17p11.2 17p11.2 1999-08-20 2018-05-01 23666 ENSG00000263563 OTTHUMG00000179059 X07499 NR_144546 2834222 RGD:1564290 HGNC:12467 +HGNC:42645 UBBP5 ubiquitin B pseudogene 5 pseudogene pseudogene Approved 13q31.2 13q31.2 2011-08-10 2011-08-10 100873783 ENSG00000228074 OTTHUMG00000017163 NG_032525 PGOHUM00000248657 HGNC:42645 +HGNC:12468 UBC ubiquitin C protein-coding gene gene with protein product Approved 12q24.3 12q24.3 polyubiquitin-C 1991-10-23 2015-08-26 7316 ENSG00000150991 OTTHUMG00000044421 uc031zre.2 NM_021009 CCDS9260 P0CG48 "1315303|11872750" MGI:98889 RGD:621244 191340 HGNC:12468 "ENST00000339647.6|NM_021009.7" +HGNC:18795 UBD ubiquitin D protein-coding gene gene with protein product Approved 6p22.1 06p22.1 FAT10 2002-06-19 2016-10-05 10537 ENSG00000213886 OTTHUMG00000031289 uc011hhy.2 Y12653 NM_006398 CCDS4662 O15205 "9368598|8662070" MGI:1344410 RGD:69418 606050 HGNC:18795 "ENST00000377050.5|NM_006398.4" +HGNC:18796 UBDP1 ubiquitin D pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 dJ994E9.3 2003-11-27 2020-04-20 100286971 ENSG00000225797 OTTHUMG00000031258 NG_027532 PGOHUM00000301304 HGNC:18796 +HGNC:12472 UBE2A ubiquitin conjugating enzyme E2 A protein-coding gene gene with protein product Approved Xq24 Xq24 "UBC2|HHR6A|RAD6A|HR6A" "ubiquitin-conjugating enzyme E2A (RAD6 homolog)|ubiquitin-conjugating enzyme E2A" Ubiquitin conjugating enzymes E2 102 1992-12-02 2016-03-14 2021-05-26 7319 ENSG00000077721 OTTHUMG00000022275 uc004erl.5 AK223045 NM_003336 "CCDS78500|CCDS14580|CCDS14581" P49459 1559696 MGI:102959 RGD:1359534 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UBE2A 312180 159080 HGNC:12472 "ENST00000371558.7|NM_003336.4" HGNC:12472 +HGNC:12473 UBE2B ubiquitin conjugating enzyme E2 B protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "UBC2|HHR6B|RAD6B" "ubiquitin-conjugating enzyme E2B (RAD6 homolog)|ubiquitin-conjugating enzyme E2B" Ubiquitin conjugating enzymes E2 102 1992-12-02 2016-03-14 2016-03-14 7320 ENSG00000119048 OTTHUMG00000129120 uc003kzh.4 M74525 NM_003337 CCDS4174 P63146 1559696 MGI:102944 RGD:708345 179095 471286 HGNC:12473 "ENST00000265339.7|NM_003337.4" +HGNC:15937 UBE2C ubiquitin conjugating enzyme E2 C protein-coding gene gene with protein product Approved 20q13.12 20q13.12 UBCH10 ubiquitin-conjugating enzyme E2C Ubiquitin conjugating enzymes E2 102 2001-07-31 2016-03-14 2016-03-14 11065 ENSG00000175063 OTTHUMG00000033038 uc002xpm.4 U73379 NM_007019 "CCDS13370|CCDS74733|CCDS13371|CCDS13372|CCDS13374|CCDS74734" O00762 9122200 MGI:1915862 RGD:1305382 605574 HGNC:15937 "ENST00000356455.9|NM_007019.4" +HGNC:19670 UBE2CP1 ubiquitin conjugating enzyme E2 C pseudogene 1 pseudogene pseudogene Approved 14q12 14q12 ubiquitin-conjugating enzyme E2C pseudogene 1 2003-01-13 2016-03-14 2016-03-14 326105 ENSG00000258648 OTTHUMG00000170581 NG_002528 PGOHUM00000247755 HGNC:19670 +HGNC:43551 UBE2CP2 ubiquitin conjugating enzyme E2 C pseudogene 2 pseudogene pseudogene Approved 18q11.2 18q11.2 ubiquitin-conjugating enzyme E2C pseudogene 2 2011-11-07 2016-03-14 2017-10-25 646595 ENSG00000265939 OTTHUMG00000179444 NG_022483 PGOHUM00000294624 HGNC:43551 +HGNC:43552 UBE2CP3 ubiquitin conjugating enzyme E2 C pseudogene 3 pseudogene pseudogene Approved 4q12 04q12 ubiquitin-conjugating enzyme E2C pseudogene 3 2011-11-07 2016-03-14 2016-03-14 100129983 ENSG00000250384 OTTHUMG00000160776 NG_022057 PGOHUM00000245919 HGNC:43552 +HGNC:43553 UBE2CP4 ubiquitin conjugating enzyme E2 C pseudogene 4 pseudogene pseudogene Approved 15q13.3 15q13.3 ubiquitin-conjugating enzyme E2C pseudogene 4 2011-11-07 2016-03-14 2016-11-09 283711 ENSG00000259179 OTTHUMG00000129269 NG_023395 PGOHUM00000293189 HGNC:43553 +HGNC:43554 UBE2CP5 ubiquitin conjugating enzyme E2 C pseudogene 5 pseudogene pseudogene Approved 19q13.43 19q13.43 ubiquitin-conjugating enzyme E2C pseudogene 5 2011-11-07 2016-03-14 2016-03-14 100874260 NR_144562 PGOHUM00000250630 HGNC:43554 +HGNC:12474 UBE2D1 ubiquitin conjugating enzyme E2 D1 protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "UbcH5A|UBCH5|UBC4/5|E2(17)KB1" SFT "stimulator of Fe transport|ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2D 1" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2016-03-14 7321 ENSG00000072401 OTTHUMG00000018269 uc001jke.3 BC015997 NM_003338 "CCDS7252|CCDS73139" P51668 "10072594|8530467" MGI:2384911 RGD:1307886 602961 HGNC:12474 "ENST00000373910.9|NM_003338.5" +HGNC:12475 UBE2D2 ubiquitin conjugating enzyme E2 D2 protein-coding gene gene with protein product Approved 5q31.2 05q31.2 "UbcH5B|UBC4" "ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2D 2" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2016-03-14 7322 ENSG00000131508 OTTHUMG00000163282 uc003ler.3 L40146 NM_181838 "CCDS43369|CCDS47275" P62837 8530467 MGI:1930715 RGD:1591897 602962 HGNC:12475 "ENST00000398733.8|NM_003339.3" +HGNC:12476 UBE2D3 ubiquitin conjugating enzyme E2 D3 protein-coding gene gene with protein product Approved 4q24 04q24 UbcH5C "ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2D 3" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2016-03-14 7323 ENSG00000109332 OTTHUMG00000131119 uc003hwi.5 U39318 NM_181893 "CCDS3660|CCDS3661|CCDS75172|CCDS3659" P61077 8530467 MGI:1913355 RGD:619912 602963 HGNC:12476 "ENST00000453744.7|NM_181891.3" +HGNC:54095 UBE2D3-AS1 UBE2D3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q24 04q24 Antisense RNAs 1987 2018-11-04 2018-11-04 105377348 ENSG00000246560 NR_131185 HGNC:54095 +HGNC:33349 UBE2D3P1 ubiquitin conjugating enzyme E2 D3 pseudogene 1 pseudogene pseudogene Approved 20p12.3 20p12.3 RP4-680N4 "UBE2D5P|UBE2D3P" "ubiquitin-conjugating enzyme E2D 5 pseudogene|ubiquitin-conjugating enzyme E2D 3 pseudogene|ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) pseudogene 1|ubiquitin-conjugating enzyme E2D 3 pseudogene 1" 2007-02-19 2010-09-21 2016-03-14 2016-03-14 100037280 ENSG00000225022 OTTHUMG00000031799 AL121755 XM_001723611 HGNC:33349 +HGNC:39010 UBE2D3P2 ubiquitin conjugating enzyme E2 D3 pseudogene 2 pseudogene pseudogene Approved 3p22.2 03p22.2 "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) pseudogene 2|ubiquitin-conjugating enzyme E2D 3 pseudogene 2" 2010-09-21 2016-03-14 2016-03-14 100130139 ENSG00000225558 OTTHUMG00000155909 NG_053016 PGOHUM00000237994 HGNC:39010 +HGNC:39011 UBE2D3P3 ubiquitin conjugating enzyme E2 D3 pseudogene 3 pseudogene pseudogene Approved 1q21.3 01q21.3 "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) pseudogene 3|ubiquitin-conjugating enzyme E2D 3 pseudogene 3" 2010-09-21 2016-03-14 2016-03-14 100874262 ENSG00000224690 OTTHUMG00000035007 NG_032223 PGOHUM00000251136 HGNC:39011 +HGNC:39391 UBE2D3P4 ubiquitin conjugating enzyme E2 D3 pseudogene 4 pseudogene pseudogene Approved 13q31.1 13q31.1 "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) pseudogene 4|ubiquitin-conjugating enzyme E2D 3 pseudogene 4" 2010-12-02 2016-03-14 2016-03-14 100131800 ENSG00000224188 OTTHUMG00000017151 NG_011460 PGOHUM00000248651 HGNC:39391 +HGNC:21647 UBE2D4 ubiquitin conjugating enzyme E2 D4 (putative) protein-coding gene gene with protein product Approved 7p13 07p13 HBUCE1 ubiquitin-conjugating enzyme E2D 4 (putative) Ubiquitin conjugating enzymes E2 102 2005-02-02 2016-03-14 2017-05-22 51619 ENSG00000078967 OTTHUMG00000128971 uc003tja.3 BC004104 NM_015983 CCDS5474 Q9Y2X8 12690205 "MGI:1922347|MGI:3646570" RGD:69425 HGNC:21647 "ENST00000222402.8|NM_015983.4" +HGNC:28656 UBE2DNL ubiquitin conjugating enzyme E2 D N-terminal like (pseudogene) pseudogene pseudogene Approved Xq21.1 Xq21.1 MGC42638 "ubiquitin-conjugating enzyme E2D N-terminal like|ubiquitin-conjugating enzyme E2D N-terminal like pseudogene|ubiquitin-conjugating enzyme E2D N-terminal like (pseudogene)" 2006-12-11 2016-03-14 2020-04-20 100131816 ENSG00000229547 OTTHUMG00000021928 BC040290 NR_024062 Q8IWF7 12477932 RGD:2323338 HGNC:28656 +HGNC:12477 UBE2E1 ubiquitin conjugating enzyme E2 E1 protein-coding gene gene with protein product Approved 3p24.2 03p24.2 UbcH6 "ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2E 1" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2016-03-14 7324 ENSG00000170142 OTTHUMG00000130483 uc003cch.4 X92963 NM_003341 "CCDS2638|CCDS56244|CCDS2639" P51965 8576257 MGI:107411 RGD:2324438 602916 HGNC:12477 "ENST00000306627.8|NM_003341.5" +HGNC:40598 UBE2E1-AS1 UBE2E1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 UBE2E1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2021-09-06 100874092 ENSG00000223791 OTTHUMG00000155580 uc062hmp.1 NR_046652 UBE2E1-AS1 HGNC:40598 +HGNC:12478 UBE2E2 ubiquitin conjugating enzyme E2 E2 protein-coding gene gene with protein product Approved 3p24.3 03p24.3 "UbcH8|FLJ25157" "ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2E 2" Ubiquitin conjugating enzymes E2 102 1997-12-15 2016-03-14 2016-10-05 7325 ENSG00000182247 OTTHUMG00000130482 uc003ccg.3 AK057886 NM_152653 CCDS2637 Q96LR5 9371400 MGI:2384997 RGD:1305644 602163 HGNC:12478 "ENST00000396703.6|NM_152653.4" +HGNC:44512 UBE2E2-DT UBE2E2 divergent transcript non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 UBE2E2-AS1 UBE2E2 antisense RNA 1 (head to head) Divergent transcripts 1990 2012-11-13 2021-07-12 2021-07-12 2021-07-12 100505877 ENSG00000233153 OTTHUMG00000155608 uc062hmd.1 NR_136176 UBE2E2-AS1 HGNC:44512 +HGNC:12479 UBE2E3 ubiquitin conjugating enzyme E2 E3 protein-coding gene gene with protein product Approved 2q31.3 02q31.3 UbcH9 "ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)|ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)|ubiquitin-conjugating enzyme E2E 3" Ubiquitin conjugating enzymes E2 102 1998-12-01 2016-03-14 2016-03-14 10477 ENSG00000170035 OTTHUMG00000132585 uc032oln.2 AB017644 NM_006357 CCDS2282 Q969T4 10343118 MGI:107412 RGD:1308894 604151 HGNC:12479 "ENST00000410062.9|NM_006357.4" +HGNC:40599 UBE2E3-DT UBE2E3 divergent transcript non-coding RNA RNA, long non-coding Approved 2q31.3 02q31.3 Divergent transcripts 1990 2021-06-30 2021-06-30 105373772 ENSG00000236153 OTTHUMG00000154204 XR_923639 +HGNC:32199 UBE2E4P ubiquitin conjugating enzyme E2 E4 pseudogene pseudogene pseudogene Approved Xp22.2 Xp22.2 UbcM2 ubiquitin-conjugating enzyme E2E 4 pseudogene Ubiquitin conjugating enzymes E2 102 2005-08-10 2016-03-14 2020-04-17 286480 ENSG00000233247 AF136176 NG_004721 HGNC:32199 +HGNC:12480 UBE2F ubiquitin conjugating enzyme E2 F (putative) protein-coding gene gene with protein product Approved 2q37.3 02q37.3 NCE2 NEDD8 conjugating enzyme ubiquitin-conjugating enzyme E2F (putative) Ubiquitin conjugating enzymes E2 102 1999-03-02 2016-03-14 2016-07-29 140739 ENSG00000184182 OTTHUMG00000133341 uc002vxk.4 BC010549 NM_080678 "CCDS63176|CCDS63175|CCDS2523|CCDS63177" Q969M7 "19250909|23201271" MGI:1915171 RGD:1307608 617700 6.3.2.- HGNC:12480 "ENST00000272930.9|NM_080678.3" +HGNC:48339 UBE2F-SCLY UBE2F-SCLY readthrough (NMD candidate) other readthrough Approved 2q37.3 02q37.3 2013-05-09 2013-05-09 100533179 ENSG00000258984 OTTHUMG00000170602 NR_037904 HGNC:48339 +HGNC:44535 UBE2FP1 UBE2F pseudogene 1 pseudogene pseudogene Approved 3p22.2 03p22.2 ubiquitin conjugating enzyme E2 F (putative) pseudogene 1 2012-11-15 2018-07-18 2018-07-18 100421436 ENSG00000224080 OTTHUMG00000155910 NR_168330 PGOHUM00000237587 HGNC:44535 +HGNC:44536 UBE2FP2 UBE2F pseudogene 2 pseudogene pseudogene Approved 16q21 16q21 ubiquitin conjugating enzyme E2 F (putative) pseudogene 2 2012-11-15 2018-07-18 2018-07-18 101060189 ENSG00000261199 OTTHUMG00000177029 NG_033246 PGOHUM00000248909 HGNC:44536 +HGNC:44537 UBE2FP3 UBE2F pseudogene 3 pseudogene pseudogene Approved 1p13.2 01p13.2 ubiquitin conjugating enzyme E2 F (putative) pseudogene 3 2012-11-15 2018-07-18 2018-07-18 106480360 ENSG00000233337 OTTHUMG00000011747 NG_044745 PGOHUM00000244849 HGNC:44537 +HGNC:12482 UBE2G1 ubiquitin conjugating enzyme E2 G1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 UBC7 UBE2G "ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)|ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)|ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)|ubiquitin-conjugating enzyme E2G 1" Ubiquitin conjugating enzymes E2 102 1996-05-15 2016-03-14 2016-03-14 7326 ENSG00000132388 OTTHUMG00000177826 uc002fxs.4 BC026288 NM_003342 CCDS32532 P62253 8893823 MGI:1914378 RGD:620392 601569 HGNC:12482 "ENST00000396981.7|NM_003342.5" +HGNC:12483 UBE2G2 ubiquitin conjugating enzyme E2 G2 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 UBC7 "ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)|ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)|ubiquitin-conjugating enzyme E2G 2" Ubiquitin conjugating enzymes E2 102 1997-11-20 2016-03-14 2016-03-14 7327 ENSG00000184787 OTTHUMG00000089179 uc002zfy.4 BC008351 NM_182688 "CCDS33586|CCDS13714" P60604 "9693041|9925943" MGI:1343188 RGD:1304860 603124 HGNC:12483 "ENST00000345496.7|NM_003343.6" +HGNC:12484 UBE2H ubiquitin conjugating enzyme E2 H protein-coding gene gene with protein product Approved 7q32.2 07q32.2 "UBCH|UBC8|GID3" GID complex subunit 3, UBC8 homolog (S. cerevisiae) ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) Ubiquitin conjugating enzymes E2 102 1995-07-12 2016-03-14 2017-12-15 7328 ENSG00000186591 OTTHUMG00000157650 uc003vpf.3 BC006277 NM_003344 "CCDS5814|CCDS47710" P62256 8132613 MGI:104632 RGD:2319288 601082 "2.3.2.23|2.3.2.24" HGNC:12484 "ENST00000355621.8|NM_003344.4" +HGNC:55615 UBE2H-DT UBE2H divergent transcript non-coding RNA RNA, long non-coding Approved 7q32.2 07q32.2 Divergent transcripts 1990 2021-06-14 2021-06-14 121832803 ENSG00000244036 XR_007060520 +HGNC:31079 UBE2HP1 ubiquitin conjugating enzyme E2 H pseudogene 1 pseudogene pseudogene Approved 8q21.13 08q21.13 UBE2HP "ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) pseudogene|ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) pseudogene 1|ubiquitin-conjugating enzyme E2H pseudogene 1" 2004-01-26 2010-07-07 2016-03-14 2020-04-20 646463 ENSG00000253677 OTTHUMG00000164597 NG_008822 PGOHUM00000249724 HGNC:31079 +HGNC:12485 UBE2I ubiquitin conjugating enzyme E2 I protein-coding gene gene with protein product Approved 16p13.3 16p13.3 UBC9 "ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)|ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)|ubiquitin-conjugating enzyme E2I" Ubiquitin conjugating enzymes E2 102 1995-07-11 2016-03-14 2017-12-15 7329 ENSG00000103275 OTTHUMG00000186701 uc002cld.3 D45050 NM_003345 CCDS10433 P63279 8565643 MGI:107365 RGD:3926 601661 2.3.2.- HGNC:12485 "ENST00000397514.8|NM_003345.5" +HGNC:17598 UBE2J1 ubiquitin conjugating enzyme E2 J1 protein-coding gene gene with protein product Approved 6q15 06q15 "HSPC153|CGI-76|NCUBE1|UBC6" "ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)|ubiquitin-conjugating enzyme E2, J1" Ubiquitin conjugating enzymes E2 102 2002-11-26 2016-03-14 2020-04-20 51465 ENSG00000198833 OTTHUMG00000016337 uc003pnc.4 AJ245898 NM_016021 CCDS5021 Q9Y385 10708578 MGI:1926245 RGD:1305067 616175 HGNC:17598 "ENST00000435041.3|NM_016021.3" +HGNC:19268 UBE2J2 ubiquitin conjugating enzyme E2 J2 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "Ubc6p|NCUBE2" "ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)|ubiquitin-conjugating enzyme E2, J2" Ubiquitin conjugating enzymes E2 102 2002-11-26 2016-03-14 2016-03-14 118424 ENSG00000160087 OTTHUMG00000001911 uc001adp.4 AF296658 NM_058167 "CCDS16|CCDS15|CCDS14" Q8N2K1 11278356 MGI:2153608 RGD:1359523 619756 HGNC:19268 "ENST00000349431.11|NM_058167.3" +HGNC:4914 UBE2K ubiquitin conjugating enzyme E2 K protein-coding gene gene with protein product Approved 4p14 04p14 "HYPG|UBC1" HIP2 "huntingtin interacting protein 2|ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)|ubiquitin-conjugating enzyme E2K" Ubiquitin conjugating enzymes E2 102 1997-08-28 2007-12-04 2016-03-14 2016-03-14 3093 ENSG00000078140 OTTHUMG00000160543 uc003guu.5 U58522 NM_005339 "CCDS33976|CCDS47043|CCDS47044" P61086 "8702625|17873885" MGI:1858216 RGD:1311626 602846 HGNC:4914 "ENST00000261427.10|NM_005339.5" +HGNC:12486 UBE2L1 ubiquitin conjugating enzyme E2 L1 (pseudogene) pseudogene pseudogene Approved 14q22.3 14q22.3 "UBEL1|L-UBC|UBCH7N3" "UBE2L7P|UBE2L7" "ubiquitin-conjugating enzyme E2L 7 pseudogene|ubiquitin-conjugating enzyme E2L 1|ubiquitin-conjugating enzyme E2L 1 pseudogene|ubiquitin-conjugating enzyme E2L 1 (pseudogene)" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2016-03-14 283556 NG_002490 "8563171|10760570" 600012 HGNC:12486 +HGNC:12487 UBE2L2 ubiquitin conjugating enzyme E2 L2 (pseudogene) pseudogene pseudogene Approved 12p12.2 12p12.2 "ubiquitin-conjugating enzyme E2L 2|ubiquitin-conjugating enzyme E2L 2 (pseudogene)" Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2020-04-20 100506424 ENSG00000131982 OTTHUMG00000168963 NG_030033 8672131 PGOHUM00000239368 HGNC:12487 +HGNC:12488 UBE2L3 ubiquitin conjugating enzyme E2 L3 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 UBCH7 ubiquitin-conjugating enzyme E2L 3 Ubiquitin conjugating enzymes E2 102 1997-03-21 2016-03-14 2016-10-05 7332 ENSG00000185651 OTTHUMG00000150823 uc002zva.2 AJ000519 NM_198157 "CCDS58795|CCDS13790|CCDS58796" P68036 "8672131|9693040" MGI:109240 RGD:1308361 603721 369255 HGNC:12488 "ENST00000342192.9|NM_003347.4" +HGNC:12489 UBE2L4 ubiquitin conjugating enzyme E2 L4 (pseudogene) pseudogene pseudogene Approved 19p13.2 19p13.2 "ubiquitin-conjugating enzyme E2L 4|ubiquitin-conjugating enzyme E2L 4 (pseudogene)" Ubiquitin conjugating enzymes E2 102 1997-04-16 2016-03-14 2016-10-05 7333 ENSG00000267741 OTTHUMG00000180210 Y09515 NG_001209 9605847 PGOHUM00000295189 HGNC:12489 +HGNC:13477 UBE2L5 ubiquitin conjugating enzyme E2 L5 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 UBE2L5P "ubiquitin conjugating enzyme E2L 5 (pseudogene)|ubiquitin conjugating enzyme E2 L5, pseudogene" Ubiquitin conjugating enzymes E2 102 2005-08-10 2017-09-28 2017-09-28 2021-10-06 171222 ENSG00000236444 OTTHUMG00000016669 AL161893 NM_001355247 CCDS86346 A0A1B0GUS4 HGNC:13477 "ENST00000635918.2|NM_001355247.2" +HGNC:12490 UBE2L6 ubiquitin conjugating enzyme E2 L6 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 UBCH8 ubiquitin-conjugating enzyme E2L 6 Ubiquitin conjugating enzymes E2 102 1999-02-26 2016-03-14 2016-03-14 9246 ENSG00000156587 OTTHUMG00000167047 uc001nkn.3 "AF031141|AK093462|BC032491" NM_004223 "CCDS7960|CCDS7961" O14933 9153201 MGI:1914500 RGD:1307960 603890 HGNC:12490 "ENST00000287156.9|NM_004223.5" +HGNC:12491 UBE2M ubiquitin conjugating enzyme E2 M protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "hUbc12|UBC12" "ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)|ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)|ubiquitin-conjugating enzyme E2M" Ubiquitin conjugating enzymes E2 102 1999-01-22 2016-03-14 2016-03-14 9040 ENSG00000130725 OTTHUMG00000183548 uc002qtl.5 AB012191 NM_003969 CCDS12987 P61081 9694792 MGI:108278 RGD:1307614 603173 HGNC:12491 "ENST00000253023.8|NM_003969.4" +HGNC:32195 UBE2MP1 ubiquitin conjugating enzyme E2 M pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 ubiquitin-conjugating enzyme E2M pseudogene 1 2005-08-10 2016-03-14 2016-03-14 606551 ENSG00000261461 OTTHUMG00000176235 CR599143 NR_002837 HGNC:32195 +HGNC:12492 UBE2N ubiquitin conjugating enzyme E2 N protein-coding gene gene with protein product Approved 12q22 12q22 "UbcH-ben|UBC13|MGC8489" "ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)|ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)|ubiquitin-conjugating enzyme E2N" Ubiquitin conjugating enzymes E2 102 1997-04-16 2016-03-14 2016-11-09 7334 ENSG00000177889 OTTHUMG00000170156 uc001tcp.4 D83004 NM_003348 CCDS31875 P61088 8902611 MGI:1934835 RGD:621096 603679 2.3.2.23 HGNC:12492 "ENST00000318066.7|NM_003348.4" +HGNC:31710 UBE2NL ubiquitin conjugating enzyme E2 N like (gene/pseudogene) protein-coding gene gene with protein product Approved Xq27.3 Xq27.3 "ubiquitin-conjugating enzyme E2N-like|ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)" Ubiquitin conjugating enzymes E2 102 2004-06-03 2016-03-14 2020-04-02 389898 ENSG00000276380 OTTHUMG00000188525 uc284rcc.1 NM_001012989 Q5JXB2 20736409 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UBE2NL HGNC:31710 +HGNC:20337 UBE2NP1 ubiquitin conjugating enzyme E2 N pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 ubiquitin-conjugating enzyme E2N pseudogene 1 2003-01-24 2016-03-14 2020-04-20 100288613 ENSG00000256385 OTTHUMG00000168889 NG_031850 PGOHUM00000247738 HGNC:20337 +HGNC:29554 UBE2O ubiquitin conjugating enzyme E2 O protein-coding gene gene with protein product Approved 17q25.1 17q25.1 E2-230K ubiquitin-conjugating enzyme E2O 2005-12-15 2016-03-14 2016-03-14 63893 ENSG00000175931 OTTHUMG00000180178 uc002jrm.5 AB051521 NM_022066 CCDS32742 Q9C0C9 "11311559|11214970" MGI:2444266 RGD:1310297 617649 HGNC:29554 "ENST00000319380.12|NM_022066.4" +HGNC:15698 UBE2Q1 ubiquitin conjugating enzyme E2 Q1 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "PRO3094|NICE-5" UBE2Q "ubiquitin-conjugating enzyme E2Q (putative)|ubiquitin-conjugating enzyme E2Q family member 1" Ubiquitin conjugating enzymes E2 102 2001-05-17 2005-08-05 2016-03-14 2016-10-05 55585 ENSG00000160714 OTTHUMG00000037265 uc001fff.2 AJ243666 NM_017582 CCDS1069 Q7Z7E8 MGI:1917343 RGD:1305305 617429 HGNC:15698 "ENST00000292211.5|NM_017582.7" +HGNC:40722 UBE2Q1-AS1 UBE2Q1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 UBE2Q1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2014-11-19 100874097 ENSG00000229780 OTTHUMG00000037263 uc057lip.1 AW070285 NR_046668 UBE2Q1-AS1 HGNC:40722 +HGNC:19248 UBE2Q2 ubiquitin conjugating enzyme E2 Q2 protein-coding gene gene with protein product Approved 15q24.2 15q24.2 DKFZp762C143 "ubiquitin-conjugating enzyme E2Q (putative) 2|ubiquitin-conjugating enzyme E2Q family member 2" Ubiquitin conjugating enzymes E2 102 2005-10-04 2016-03-14 2016-03-14 92912 ENSG00000140367 OTTHUMG00000142839 uc002bbg.4 BC017708 NM_173469 "CCDS10286|CCDS45309|CCDS66839" Q8WVN8 16300736 MGI:2388672 RGD:1307680 612501 HGNC:19248 "ENST00000267938.9|NM_173469.4" +HGNC:44656 UBE2Q2L ubiquitin conjugating enzyme E2 Q2 like protein-coding gene gene with protein product Approved 15q25.2 15q25.2 ubiquitin-conjugating enzyme E2Q family member 2-like 2014-01-03 2016-03-14 2019-06-28 100505679 ENSG00000259511 OTTHUMG00000172496 NM_001243531 CCDS58396 H0YL09 HGNC:44656 +HGNC:37439 UBE2Q2P1 UBE2Q2 pseudogene 1 pseudogene pseudogene Approved 15q25.2 15q25.2 FLJ43276 UBE2QP1 "ubiquitin-conjugating enzyme E2Q family pseudogene 1|ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1|ubiquitin conjugating enzyme E2 Q2 pseudogene 1" 2009-09-28 2009-12-17 2021-12-15 2021-12-15 388165 ENSG00000189136 OTTHUMG00000148662 NR_003661 PGOHUM00000262233 HGNC:37439 +HGNC:37440 UBE2Q2P2 UBE2Q2 pseudogene 2 pseudogene pseudogene Approved 15q25.2 15q25.2 "UBE2QP2|UBE2Q2P3" "ubiquitin-conjugating enzyme E2Q family pseudogene 2|ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 3|ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 2|ubiquitin conjugating enzyme E2 Q2 pseudogene 2" 2009-09-28 2009-12-17 2021-12-15 2021-12-15 100134869 ENSG00000259429 OTTHUMG00000172604 BC066934 NR_004847 PGOHUM00000262260 HGNC:37440 +HGNC:38429 UBE2Q2P4Y UBE2Q2 pseudogene 4, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 UBE2Q2PY1 "ubiquitin-conjugating enzyme E2Q family member 2 pseudogene, Y-linked 1|ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 4, Y-linked|ubiquitin conjugating enzyme E2 Q2 pseudogene 4, Y-linked" 2010-05-12 2010-06-28 2021-12-15 2021-12-15 100421716 ENSG00000225491 OTTHUMG00000045075 NG_021926 PGOHUM00000262155 HGNC:38429 +HGNC:38466 UBE2Q2P5Y UBE2Q2 pseudogene 5, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 UBE2Q2PY2 "ubiquitin-conjugating enzyme E2Q family member 2 pseudogene, Y-linked 2|ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 5, Y-linked|ubiquitin conjugating enzyme E2 Q2 pseudogene 5, Y-linked" 2010-05-12 2010-06-28 2021-12-15 2021-12-15 100421717 ENSG00000223636 OTTHUMG00000045280 NG_004755 PGOHUM00000262162 HGNC:38466 +HGNC:49412 UBE2Q2P6 UBE2Q2 pseudogene 6 pseudogene pseudogene Approved 15q25.2 15q25.2 "ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 6|ubiquitin conjugating enzyme E2 Q2 pseudogene 6" 2013-11-05 2021-12-15 2021-12-15 100421769 ENSG00000275695 OTTHUMG00000187868 NG_025398 PGOHUM00000293317 HGNC:49412 +HGNC:49413 UBE2Q2P7 UBE2Q2 pseudogene 7 pseudogene pseudogene Approved 15q25.2 alternate reference locus 15q25.2 alternate reference locus "ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 7|ubiquitin conjugating enzyme E2 Q2 pseudogene 7" 2013-11-05 2021-12-15 2021-12-15 100421766 NG_025343 PGOHUM00000262071 +HGNC:49521 UBE2Q2P8 UBE2Q2 pseudogene 8 pseudogene pseudogene Approved 15q25.2 15q25.2 "ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 8|ubiquitin conjugating enzyme E2 Q2 pseudogene 8" 2014-01-03 2021-12-15 2021-12-15 100421771 ENSG00000259633 OTTHUMG00000172498 NG_025401 PGOHUM00000262109 HGNC:49521 +HGNC:49517 UBE2Q2P9 UBE2Q2 pseudogene 9 pseudogene pseudogene Approved 3p13 03p13 "ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 9|ubiquitin conjugating enzyme E2 Q2 pseudogene 9" 2014-01-03 2021-12-15 2021-12-15 106480276 ENSG00000244130 OTTHUMG00000158787 NG_044074 PGOHUM00000262434 HGNC:49517 +HGNC:49518 UBE2Q2P10 UBE2Q2 pseudogene 10 pseudogene pseudogene Approved 8q21.3 08q21.3 "ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 10|ubiquitin conjugating enzyme E2 Q2 pseudogene 10" 2014-01-03 2021-12-15 2021-12-15 101928256 ENSG00000233915 OTTHUMG00000160482 PGOHUM00000250012 HGNC:49518 +HGNC:49522 UBE2Q2P11 UBE2Q2 pseudogene 11 pseudogene pseudogene Approved 15q25.2 15q25.2 "ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 11|ubiquitin conjugating enzyme E2 Q2 pseudogene 11" 2014-01-03 2021-12-15 2021-12-15 100421767 ENSG00000259538 OTTHUMG00000185780 NG_025347 PGOHUM00000262076 HGNC:49522 +HGNC:49523 UBE2Q2P12 UBE2Q2 pseudogene 12 pseudogene pseudogene Approved 15q25.2 15q25.2 "ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 12|ubiquitin conjugating enzyme E2 Q2 pseudogene 12" 2014-01-03 2021-12-15 2021-12-15 100421768 ENSG00000197627 OTTHUMG00000148661 NG_025348 PGOHUM00000262077 HGNC:49523 +HGNC:56078 UBE2Q2P13 UBE2Q2 pseudogene 13 pseudogene pseudogene Approved 15q26.3 15q26.3 2021-12-15 2021-12-15 100128108 ENSG00000259658 NR_168283 +HGNC:37269 UBE2QL1 ubiquitin conjugating enzyme E2 Q family like 1 protein-coding gene gene with protein product Approved 5p15.31 05p15.31 FLJ25076 "ubiquitin-conjugating enzyme E2Q family-like 1|ubiquitin conjugating enzyme E2Q family-like 1" 2009-09-28 2016-03-14 2016-03-14 134111 ENSG00000215218 OTTHUMG00000161683 uc003jdp.5 AK057805 NM_001145161 CCDS47189 A1L167 24000165 MGI:1924230 RGD:1598121 615832 HGNC:37269 "ENST00000399816.4|NM_001145161.3" +HGNC:19907 UBE2R2 ubiquitin conjugating enzyme E2 R2 protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "UBC3B|CDC34B|FLJ20419|MGC10481" ubiquitin-conjugating enzyme E2R 2 Ubiquitin conjugating enzymes E2 102 2002-12-16 2016-03-14 2016-10-05 54926 ENSG00000107341 OTTHUMG00000019797 uc003ztm.4 AK000426 NM_017811 CCDS6546 Q712K3 12037680 MGI:1914865 RGD:1594826 612506 HGNC:19907 "ENST00000263228.4|NM_017811.4" +HGNC:49911 UBE2R2-AS1 UBE2R2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p13.3 09p13.3 LINC01251 long intergenic non-protein coding RNA 1251 Antisense RNAs 1987 2014-03-21 2022-02-22 101929688 ENSG00000235481 OTTHUMG00000000421 NR_170201 31123407 HGNC:49911 +HGNC:17895 UBE2S ubiquitin conjugating enzyme E2 S protein-coding gene gene with protein product Approved 19q13.42 19q13.42 E2-EPF "ubiquitin carrier protein|ubiquitin-conjugating enzyme E2-24 kD|ubiquitin-protein ligase" ubiquitin-conjugating enzyme E2S Ubiquitin conjugating enzymes E2 102 2004-01-12 2016-03-14 2020-04-01 27338 ENSG00000108106 OTTHUMG00000180811 uc002qkx.2 BC004236 NM_014501 CCDS33114 Q16763 1379239 MGI:1925141 RGD:1564746 610309 HGNC:17895 "ENST00000264552.14|NM_014501.3" +HGNC:30864 UBE2SP1 ubiquitin conjugating enzyme E2 S pseudogene 1 pseudogene pseudogene Approved 17p12 17p12 ubiquitin-conjugating enzyme E2S pseudogene 1 2005-08-10 2016-03-14 2016-10-05 246719 ENSG00000233966 OTTHUMG00000059073 NG_001583 HGNC:30864 +HGNC:32196 UBE2SP2 ubiquitin conjugating enzyme E2 S pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 ubiquitin-conjugating enzyme E2S pseudogene 2 2005-08-10 2016-03-14 2017-10-25 440406 ENSG00000224126 OTTHUMG00000059055 NG_031882 PGOHUM00000294303 HGNC:32196 +HGNC:25009 UBE2T ubiquitin conjugating enzyme E2 T protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "HSPC150|FANCT" ubiquitin-conjugating enzyme E2T "Ubiquitin conjugating enzymes E2|FA complementation groups" "102|548" 2005-03-21 2016-03-14 2021-05-26 29089 ENSG00000077152 OTTHUMG00000041392 uc001gxx.5 AF161499 NM_014176 CCDS1425 Q9NPD8 "11042152|16916645|26046368" MGI:1914446 RGD:1310816 LRG_1169|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1169.xml 610538 432157 HGNC:25009 "ENST00000646651.1|NM_014176.4" HGNC:25009 +HGNC:28559 UBE2U ubiquitin conjugating enzyme E2 U protein-coding gene gene with protein product Approved 1p31.3 01p31.3 MGC35130 ubiquitin-conjugating enzyme E2U (putative) Ubiquitin conjugating enzymes E2 102 2005-03-21 2018-03-15 2018-03-15 148581 ENSG00000177414 OTTHUMG00000009023 uc001dbn.1 BC029895 NM_152489 CCDS627 Q5VVX9 "22496338|27903633" MGI:3588216 RGD:1565480 HGNC:28559 "ENST00000371077.10|NM_001366232.2" +HGNC:12494 UBE2V1 ubiquitin conjugating enzyme E2 V1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "UEV-1|CROC-1|UEV1A|CROC1" UBE2V ubiquitin-conjugating enzyme E2 variant 1 Ubiquitin conjugating enzymes E2 102 1998-03-20 2016-03-14 2016-10-05 7335 ENSG00000244687 OTTHUMG00000152626 uc002xva.5 U39360 NM_021988 "CCDS13427|CCDS13426|CCDS74740|CCDS33483|CCDS58775" Q13404 "9418904|9305758" MGI:1913839 RGD:1305503 602995 HGNC:12494 "ENST00000371674.8|NM_001032288.3" +HGNC:16581 UBE2V1P1 UBE2V1 pseudogene 1 pseudogene pseudogene Approved 20p13 20p13 dJ687F11.3 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1|ubiquitin conjugating enzyme E2 V1 pseudogene 1" 2001-09-17 2020-06-19 2020-06-19 170556 ENSG00000226632 OTTHUMG00000031743 AL117334 NG_031974 PGOHUM00000296883 HGNC:16581 +HGNC:32648 UBE2V1P2 UBE2V1 pseudogene 2 pseudogene pseudogene Approved 3q26.31 03q26.31 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 2|ubiquitin conjugating enzyme E2 V1 pseudogene 2" 2008-08-07 2020-06-19 2020-06-19 730052 ENSG00000214192 OTTHUMG00000157118 NG_008616 PGOHUM00000299276 HGNC:32648 +HGNC:23983 UBE2V1P3 UBE2V1 pseudogene 3 pseudogene pseudogene Approved Yp11.2 Yp11.2 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 3|ubiquitin conjugating enzyme E2 V1 pseudogene 3" 2009-12-17 2020-06-19 2020-06-19 359798 ENSG00000229518 OTTHUMG00000036182 NG_002821 12815422 PGOHUM00000233669 HGNC:23983 +HGNC:44886 UBE2V1P4 UBE2V1 pseudogene 4 pseudogene pseudogene Approved 9q34.11 09q34.11 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 4|ubiquitin conjugating enzyme E2 V1 pseudogene 4" 2012-12-11 2020-06-19 2020-06-19 102724816 ENSG00000233909 OTTHUMG00000020792 NG_046388 PGOHUM00000304462 HGNC:44886 +HGNC:44888 UBE2V1P5 UBE2V1 pseudogene 5 pseudogene pseudogene Approved 10q25.3 10q25.3 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 5|ubiquitin conjugating enzyme E2 V1 pseudogene 5" 2012-12-11 2020-06-19 2020-06-19 100287173 ENSG00000226582 OTTHUMG00000019080 NG_030120 PGOHUM00000238926 HGNC:44888 +HGNC:44889 UBE2V1P6 UBE2V1 pseudogene 6 pseudogene pseudogene Approved 2q31.1 02q31.1 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 6|ubiquitin conjugating enzyme E2 V1 pseudogene 6" 2012-12-11 2020-06-19 2020-06-19 100287279 ENSG00000235995 OTTHUMG00000153958 NG_030150 PGOHUM00000241010 HGNC:44889 +HGNC:44890 UBE2V1P7 UBE2V1 pseudogene 7 pseudogene pseudogene Approved Xq21.1 Xq21.1 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 7|ubiquitin conjugating enzyme E2 V1 pseudogene 7" 2012-12-11 2020-06-19 2020-06-19 106481746 ENSG00000235061 OTTHUMG00000021891 NG_043589 PGOHUM00000241409 HGNC:44890 +HGNC:44893 UBE2V1P8 UBE2V1 pseudogene 8 pseudogene pseudogene Approved 1p34.2 01p34.2 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 8|ubiquitin conjugating enzyme E2 V1 pseudogene 8" 2012-12-11 2020-06-19 2020-06-19 102724706 ENSG00000233118 OTTHUMG00000005718 NG_046615 PGOHUM00000295636 HGNC:44893 +HGNC:44894 UBE2V1P9 UBE2V1 pseudogene 9 pseudogene pseudogene Approved Xq21.31 Xq21.31 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 9|ubiquitin conjugating enzyme E2 V1 pseudogene 9" 2012-12-11 2020-06-19 2020-06-19 100131981 ENSG00000229667 OTTHUMG00000021957 NG_030278 PGOHUM00000257258 HGNC:44894 +HGNC:44895 UBE2V1P10 UBE2V1 pseudogene 10 pseudogene pseudogene Approved 9q21.33 09q21.33 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 10|ubiquitin conjugating enzyme E2 V1 pseudogene 10" 2012-12-11 2020-06-19 2020-06-19 102724605 ENSG00000226590 OTTHUMG00000020121 NG_044944 PGOHUM00000304351 HGNC:44895 +HGNC:44896 UBE2V1P11 UBE2V1 pseudogene 11 pseudogene pseudogene Approved 2q33.1 02q33.1 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 11|ubiquitin conjugating enzyme E2 V1 pseudogene 11" 2012-12-11 2020-06-19 2020-06-19 102723977 ENSG00000231124 OTTHUMG00000154567 NG_046614 PGOHUM00000298840 HGNC:44896 +HGNC:44897 UBE2V1P12 UBE2V1 pseudogene 12 pseudogene pseudogene Approved 5p14.3 05p14.3 "ubiquitin-conjugating enzyme E2 variant 1 pseudogene 12|ubiquitin conjugating enzyme E2 V1 pseudogene 12" 2012-12-11 2020-06-19 2020-06-19 106479048 ENSG00000249191 OTTHUMG00000161782 NG_044482 PGOHUM00000300519 HGNC:44897 +HGNC:52411 UBE2V1P13 UBE2V1 pseudogene 13 pseudogene pseudogene Approved 1q41 01q41 ubiquitin conjugating enzyme E2 V1 pseudogene 13 2016-11-03 2020-06-19 2020-06-19 100505982 ENSG00000224584 OTTHUMG00000036954 NG_046787 PGOHUM00000296040 HGNC:52411 +HGNC:52412 UBE2V1P14 UBE2V1 pseudogene 14 pseudogene pseudogene Approved 2q22.2 02q22.2 ubiquitin conjugating enzyme E2 V1 pseudogene 14 2016-11-03 2020-06-19 2020-06-19 100289623 ENSG00000228134 OTTHUMG00000153672 NG_021588 PGOHUM00000298744 HGNC:52412 +HGNC:52414 UBE2V1P15 UBE2V1 pseudogene 15 pseudogene pseudogene Approved 6q14.1 06q14.1 ubiquitin conjugating enzyme E2 V1 pseudogene 15 2016-11-03 2020-06-19 2020-06-19 100288170 ENSG00000217680 OTTHUMG00000015053 NG_051931 PGOHUM00000301855 HGNC:52414 +HGNC:55086 UBE2V1P16 UBE2V1 pseudogene 16 pseudogene pseudogene Approved Xq25 Xq25 2020-06-19 2020-06-19 102723952 ENSG00000237891 XM_047442709 +HGNC:12495 UBE2V2 ubiquitin conjugating enzyme E2 V2 protein-coding gene gene with protein product Approved 8q11.21 08q11.21 "UEV-2|DDVit-1|EDPF-1|MMS2|UEV2|EDPF1|DDVIT1|EDAF-1" ubiquitin-conjugating enzyme E2 variant 2 Ubiquitin conjugating enzymes E2 102 1998-08-25 2016-03-14 2016-12-16 7336 ENSG00000169139 OTTHUMG00000164206 uc003xqm.4 X98091 NM_003350 CCDS43738 Q15819 "9418904|9199207" MGI:1917870 RGD:727838 603001 HGNC:12495 "ENST00000523111.7|NM_003350.3" +HGNC:44885 UBE2V2P1 ubiquitin conjugating enzyme E2 V2 pseudogene 1 pseudogene pseudogene Approved 10p12.31 10p12.31 ubiquitin-conjugating enzyme E2 variant 2 pseudogene 1 2012-12-11 2016-03-14 2016-03-14 100128493 ENSG00000226255 OTTHUMG00000017771 NG_022163 PGOHUM00000238682 HGNC:44885 +HGNC:44887 UBE2V2P2 ubiquitin conjugating enzyme E2 V2 pseudogene 2 pseudogene pseudogene Approved 17q25.3 17q25.3 ubiquitin-conjugating enzyme E2 variant 2 pseudogene 2 2012-12-11 2016-03-14 2016-03-14 104548970 ENSG00000267463 OTTHUMG00000177677 NG_041787 PGOHUM00000294225 HGNC:44887 +HGNC:44891 UBE2V2P3 ubiquitin conjugating enzyme E2 V2 pseudogene 3 pseudogene pseudogene Approved 1p36.22 01p36.22 ubiquitin-conjugating enzyme E2 variant 2 pseudogene 3 2012-12-11 2016-03-14 2016-03-14 100421341 ENSG00000238199 OTTHUMG00000002077 NG_026910 PGOHUM00000243890 HGNC:44891 +HGNC:44892 UBE2V2P4 ubiquitin conjugating enzyme E2 V2 pseudogene 4 pseudogene pseudogene Approved 1p34.3 01p34.3 ubiquitin-conjugating enzyme E2 variant 2 pseudogene 4 2012-12-11 2016-03-14 2016-11-02 106480802 ENSG00000231849 OTTHUMG00000007715 NG_044185 PGOHUM00000295624 HGNC:44892 +HGNC:25616 UBE2W ubiquitin conjugating enzyme E2 W protein-coding gene gene with protein product Approved 8q21.11 08q21.11 "FLJ11011|UBC-16" "E2 ubiquitin-conjugating enzyme W|N-terminal E2 ubiquitin-conjugating enzyme|N-terminus-conjugating E2|Ubiquitin carrier protein W|Ubiquitin-conjugating enzyme 16|Ubiquitin-protein ligase W" "ubiquitin-conjugating enzyme E2W (putative)|ubiquitin conjugating enzyme E2 W (putative)" Ubiquitin conjugating enzymes E2 102 2005-10-06 2016-12-16 2019-03-20 55284 ENSG00000104343 OTTHUMG00000164517 uc064nta.1 AK001873 NM_001001481 "CCDS47874|CCDS47875" Q96B02 "16368532|21229326|26601958" MGI:1914049 RGD:6503620 614277 HGNC:25616 "ENST00000602593.6|NM_018299.6" +HGNC:32198 UBE2WP1 ubiquitin conjugating enzyme E2 W pseudogene 1 pseudogene pseudogene Approved 1p21.3 01p21.3 UBE2WP "ubiquitin-conjugating enzyme E2W pseudogene|ubiquitin-conjugating enzyme E2W pseudogene 1" 2005-10-06 2010-07-07 2016-03-14 2016-03-14 619457 ENSG00000234422 OTTHUMG00000010709 AC092393 NG_028833 HGNC:32198 +HGNC:25847 UBE2Z ubiquitin conjugating enzyme E2 Z protein-coding gene gene with protein product Approved 17q21.32 17q21.32 "FLJ13855|USE1" UBA6-specific enzyme E2 ubiquitin-conjugating enzyme E2Z Ubiquitin conjugating enzymes E2 102 2005-12-15 2016-03-14 2016-03-14 65264 ENSG00000159202 OTTHUMG00000150521 uc002ioi.4 BC015890 NM_023079 CCDS11540 Q9H832 17597759 MGI:1343160 RGD:1308347 611362 HGNC:25847 "ENST00000360943.10|NM_023079.5" +HGNC:12496 UBE3A ubiquitin protein ligase E3A protein-coding gene gene with protein product Approved 15q11.2 15q11.2 "AS|ANCR|E6-AP|FLJ26981" Angelman syndrome "EPVE6AP|HPVE6A" human papilloma virus E6-associated protein HECT domain containing 1959 1993-10-21 2008-07-31 2021-05-26 7337 ENSG00000114062 OTTHUMG00000171548 uc059gvn.1 AF002224 NM_000462 "CCDS86436|CCDS45192|CCDS32177|CCDS45191" Q05086 8221889 MGI:105098 RGD:1306361 "NGRL, Manchester LOVD|http://ngrl.manchester.ac.uk/LOVDv.2.0/home.php?select_db=UBE3A|LRG_15|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_15.xml" 601623 120365 2.3.2.26 HGNC:12496 "ENST00000648336.2|NM_130839.5" HGNC:12496 +HGNC:12497 UBE3AP1 ubiquitin protein ligase E3A pseudogene 1 pseudogene pseudogene Approved 2q11.1 02q11.1 1997-06-20 2012-02-29 7338 AF010598 NG_002381 9465301 HGNC:12497 +HGNC:12498 UBE3AP2 ubiquitin protein ligase E3A pseudogene 2 pseudogene pseudogene Approved 21q22.11 21q22.11 1997-06-20 2016-10-05 7339 ENSG00000228941 OTTHUMG00000084863 AF010599 NG_001210 9465301 PGOHUM00000239064 HGNC:12498 +HGNC:13478 UBE3B ubiquitin protein ligase E3B protein-coding gene gene with protein product Approved 12q24.11 12q24.11 HECT domain containing 1959 2004-03-02 2021-05-26 89910 ENSG00000151148 OTTHUMG00000169254 uc001toq.5 BC032301 NM_183415 "CCDS58277|CCDS9129" Q7Z3V4 MGI:1891295 RGD:1583074 608047 331716 HGNC:13478 "ENST00000342494.8|NM_130466.4" HGNC:13478 +HGNC:16803 UBE3C ubiquitin protein ligase E3C protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "KIAA0010|KIAA10" HECT domain containing 1959 2004-05-04 2014-11-19 9690 ENSG00000009335 OTTHUMG00000157239 uc010lqs.4 AK127280 NM_014671 CCDS34789 Q15386 "7584026|11278995" MGI:2140998 RGD:1559986 614454 HGNC:16803 "ENST00000348165.10|NM_014671.3" +HGNC:21381 UBE3D ubiquitin protein ligase E3D protein-coding gene gene with protein product Approved 6q14.1 06q14.1 "DKFZp434A1520|H10BH|YJR141W" UBCH10 binding protein with a hect-like domain "C6orf157|UBE2CBP" "chromosome 6 open reading frame 157|ubiquitin-conjugating enzyme E2C binding protein" 2003-06-11 2012-02-24 2012-02-24 2016-10-05 90025 ENSG00000118420 OTTHUMG00000015108 uc003pjp.4 AL137544 NM_198920 CCDS34491 Q7Z6J8 15749827 MGI:1917598 RGD:1306773 612495 HGNC:21381 "ENST00000369747.8|NM_198920.3" +HGNC:12499 UBE4A ubiquitination factor E4A protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "UBOX2|UFD2|KIAA0126|E4" "ubiquitination factor E4A (homologous to yeast UFD2)|ubiquitination factor E4A (UFD2 homolog, yeast)" "U-box domain containing|Armadillo like helical domain containing" "365|1492" 2000-01-28 2011-05-19 2016-11-09 9354 ENSG00000110344 OTTHUMG00000168100 uc001psv.4 D50916 NM_004788 "CCDS8396|CCDS55790" Q14139 10089879 MGI:2154580 RGD:1303173 603753 HGNC:12499 "ENST00000252108.8|NM_001204077.2" HGNC:12499 +HGNC:12500 UBE4B ubiquitination factor E4B protein-coding gene gene with protein product Approved 1p36.22 01p36.22 "UBOX3|E4|UFD2|KIAA0684" "ubiquitination factor E4B (homologous to yeast UFD2)|ubiquitination factor E4B (UFD2 homolog, yeast)" U-box domain containing 365 2000-01-28 2011-05-19 2016-10-05 10277 ENSG00000130939 OTTHUMG00000001797 uc001aqr.5 AF091093 NM_006048 "CCDS110|CCDS41245" O95155 "9734811|10089879" MGI:1927086 RGD:1304738 613565 HGNC:12500 "ENST00000343090.11|NM_001105562.3" +HGNC:30565 UBFD1 ubiquitin family domain containing 1 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "FLJ42145|FLJ38870|UBPH" ubiquitin-binding protein homolog 2007-03-02 2016-10-05 56061 ENSG00000103353 OTTHUMG00000128855 uc002dlv.4 AK124139 NM_019116 CCDS10613 O14562 10493829 MGI:107301 RGD:1306614 HGNC:30565 "ENST00000395878.8|NM_019116.3" +HGNC:42389 UBFD1P1 ubiquitin family domain containing 1 pseudogene 1 pseudogene pseudogene Approved 3q11.2 03q11.2 2011-07-05 2014-11-19 100130484 ENSG00000244653 OTTHUMG00000159797 NG_022258 PGOHUM00000238111 HGNC:42389 +HGNC:30791 UBIAD1 UbiA prenyltransferase domain containing 1 protein-coding gene gene with protein product Approved 1p36.22 01p36.22 TERE1 transitional epithelia response protein SCCD Schnyder crystalline corneal dystrophy 2005-07-26 2020-10-06 29914 ENSG00000120942 OTTHUMG00000002075 uc001asg.4 NM_013319 "CCDS81260|CCDS129" Q9Y5Z9 "20953171|11314041|17668063|8894705" MGI:1918957 RGD:1309588 611632 159547 2.5.1.- HGNC:30791 "ENST00000376810.6|NM_013319.3" HGNC:30791 +HGNC:12504 UBL3 ubiquitin like 3 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "HCG-1|DKFZP434K151|FLJ32018" PNSC1 ubiquitin-like 3 1998-01-30 2015-12-01 2016-10-05 5412 ENSG00000122042 OTTHUMG00000016661 uc001usp.4 AF044221 NM_007106 CCDS9334 O95164 10375635 MGI:1344373 RGD:1305431 604711 HGNC:12504 "ENST00000380680.5|NM_007106.4" +HGNC:12505 UBL4A ubiquitin like 4A protein-coding gene gene with protein product Approved Xq28 Xq28 "GDX|DXS254E|GET5|MDY2|TMA24" UBL4 "ubiquitin-like 4|ubiquitin-like 4A" "BAG6 complex|GET4-GET5 transmembrane domain recognition complex subunits" "1891|1914" 2000-02-21 2005-09-27 2015-12-01 2019-05-09 8266 ENSG00000102178 OTTHUMG00000013370 uc004flo.4 J03589 NM_014235 CCDS14754 P11441 "2829204|16872915" MGI:95049 RGD:1563983 312070 HGNC:12505 "ENST00000369660.9|NM_014235.5" +HGNC:32309 UBL4B ubiquitin like 4B protein-coding gene gene with protein product Approved 1p13.3 01p13.3 FLJ25690 ubiquitin-like 4B 2005-09-27 2015-12-01 2015-12-01 164153 ENSG00000186150 OTTHUMG00000166989 uc001dzc.4 NM_203412 CCDS820 Q8N7F7 16872915 MGI:1914841 RGD:1589125 611127 HGNC:32309 "ENST00000334179.5|NM_203412.2" +HGNC:13736 UBL5 ubiquitin like 5 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 ubiquitin-like 5 2000-10-24 2015-12-01 2015-12-01 59286 ENSG00000198258 OTTHUMG00000180214 uc002mmj.2 NM_024292 CCDS12219 Q9BZL1 MGI:1913427 RGD:1564644 606849 HGNC:13736 "ENST00000586895.6|NM_001048241.3" +HGNC:44639 UBL5P1 ubiquitin like 5 pseudogene 1 pseudogene pseudogene Approved 5p13.3 05p13.3 ubiquitin-like 5 pseudogene 1 2012-11-23 2015-12-01 2015-12-01 100130803 ENSG00000248418 OTTHUMG00000161938 NG_027666 PGOHUM00000235540 HGNC:44639 +HGNC:44640 UBL5P2 ubiquitin like 5 pseudogene 2 pseudogene pseudogene Approved 17q11.2 17q11.2 ubiquitin-like 5 pseudogene 2 2012-11-23 2015-12-01 2015-12-01 100287215 ENSG00000266282 OTTHUMG00000179584 NG_027668 PGOHUM00000237026 HGNC:44640 +HGNC:44641 UBL5P3 ubiquitin like 5 pseudogene 3 pseudogene pseudogene Approved 3p14.2 03p14.2 ubiquitin-like 5 pseudogene 3 2012-11-23 2015-12-01 2015-12-01 100129031 ENSG00000240359 OTTHUMG00000158703 NG_027667 PGOHUM00000237642 HGNC:44641 +HGNC:44642 UBL5P4 ubiquitin like 5 pseudogene 4 pseudogene pseudogene Approved 16p13.13 16p13.13 ubiquitin-like 5 pseudogene 4 2012-11-23 2015-12-01 2015-12-01 106480800 ENSG00000260224 OTTHUMG00000172960 NG_044167 PGOHUM00000248725 HGNC:44642 +HGNC:28221 UBL7 ubiquitin like 7 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "BMSC-UbP|MGC14421" "bone marrow stromal cell-derived ubiquitin-like|ubiquitin-like protein SB132" "ubiquitin-like 7 (bone marrow stromal cell-derived)|ubiquitin-like 7" 2005-04-20 2015-12-01 2022-03-08 84993 ENSG00000138629 OTTHUMG00000139001 uc002axy.2 BC007913 "NM_032907|NM_201265" CCDS10263 Q96S82 12644319 MGI:1916709 RGD:1303055 609748 HGNC:28221 "ENST00000395081.7|NM_032907.5" +HGNC:48614 UBL7-DT UBL7 divergent transcript non-coding RNA RNA, long non-coding Approved 15q24.1 15q24.1 UBL7-AS1 UBL7 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-24 2021-04-28 2021-04-28 2021-04-28 440288 ENSG00000247240 OTTHUMG00000172644 NR_038448 UBL7-AS1 HGNC:48614 +HGNC:28110 UBLCP1 ubiquitin like domain containing CTD phosphatase 1 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 "MGC10067|CPUB1" CTD phosphatase-like with ubiquitin domain 1 ubiquitin-like domain containing CTD phosphatase 1 CTD family phosphatases 1041 2005-07-20 2015-12-01 2015-12-01 134510 ENSG00000164332 OTTHUMG00000130305 uc003lxq.2 AK057996 NM_145049 CCDS4345 Q8WVY7 15883030 MGI:1933105 RGD:1310386 609867 3.1.3.16 HGNC:28110 "ENST00000296786.8|NM_145049.5" +HGNC:12506 UBN1 ubinuclein 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "Protein phosphatase 1 regulatory subunits|HIRA histone chaperone complex subunits" "694|1997" 2000-02-25 2015-08-24 29855 ENSG00000118900 OTTHUMG00000129531 uc002cyb.5 AF108460 NM_016936 "CCDS10525|CCDS73822" Q9NPG3 10725330 MGI:1891307 RGD:1311582 609771 HGNC:12506 "ENST00000262376.11|NM_001079514.3" +HGNC:21931 UBN2 ubinuclein 2 protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ25778|KIAA2030" 2008-12-08 2016-04-25 254048 ENSG00000157741 OTTHUMG00000157623 uc011kqr.2 AK098644 NM_173569 CCDS43655 Q6ZU65 19029251 MGI:2444236 RGD:1310722 613841 HGNC:21931 "ENST00000473989.8|NM_173569.4" +HGNC:17777 UBOX5 U-box domain containing 5 protein-coding gene gene with protein product Approved 20p13 20p13 "UIP5|KIAA0860|Ubce7ip5|RNF37" "Ring finger proteins|U-box domain containing" "58|365" 2005-01-10 2014-11-19 22888 ENSG00000185019 OTTHUMG00000031731 uc002whw.5 AB020667 NM_014948 "CCDS13046|CCDS13047" O94941 11274149 MGI:2154658 RGD:1305440 619675 HGNC:17777 "ENST00000217173.7|NM_014948.4" +HGNC:44111 UBOX5-AS1 UBOX5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p13 20p13 UBOX5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 100134015 ENSG00000235958 OTTHUMG00000031730 uc002whv.2 AK097516 NR_038395 UBOX5-AS1 HGNC:44111 +HGNC:12507 UBP1 upstream binding protein 1 protein-coding gene gene with protein product Approved 3p22.3 03p22.3 LBP-1a 1996-05-13 2017-08-04 2017-08-04 7342 ENSG00000153560 OTTHUMG00000130749 uc003cfq.5 AF198487 NM_014517 "CCDS2659|CCDS46788" Q9NZI7 8114710 MGI:104889 RGD:1564700 609784 HGNC:12507 "ENST00000283629.8|NM_014517.5" +HGNC:12508 UBQLN1 ubiquilin 1 protein-coding gene gene with protein product Approved 9q21.32 09q21.32 "DSK2|PLIC-1|XDRP1|DA41" Ubiquilin family 783 2000-02-18 2016-10-05 29979 ENSG00000135018 OTTHUMG00000020104 uc004amv.4 AF176069 NM_013438 "CCDS6664|CCDS6663" Q9UMX0 "9303440|10807547" MGI:1860276 RGD:620745 605046 HGNC:12508 "ENST00000376395.9|NM_013438.5" HGNC:12508 +HGNC:55518 UBQLN1-AS1 UBQLN1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.32 09q21.32 Antisense RNAs 1987 2021-03-17 2021-03-17 105376114 ENSG00000254473 NR_135840 +HGNC:21633 UBQLN1P1 ubiquilin 1 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 UBQLN1P ubiquilin 1 pseudogene 2003-11-27 2010-07-07 2010-07-07 2014-11-19 387117 ENSG00000236405 OTTHUMG00000031134 NG_011407 PGOHUM00000243136 HGNC:21633 +HGNC:12509 UBQLN2 ubiquilin 2 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 "Chap1|Dsk2|RIHFB2157|LIC-2|CHAP1/DSK2|PLIC-2|N4BP4|PLIC2" NEDD4 binding protein 4 Ubiquilin family 783 2000-02-18 2021-05-26 29978 ENSG00000188021 OTTHUMG00000021669 uc004dus.4 AF189009 NM_013444 CCDS14374 Q9UHD9 10675567 MGI:1860283 RGD:1563566 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UBQLN2|LRG_665|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_665.xml" 300264 281347 HGNC:12509 "ENST00000338222.7|NM_013444.4" HGNC:12509 +HGNC:12510 UBQLN3 ubiquilin 3 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 TUP-1 Ubiquilin family 783 2000-03-29 2016-10-05 50613 ENSG00000175520 OTTHUMG00000066886 uc001may.2 AF230481 NM_017481 CCDS7758 Q9H347 10831842 MGI:3045291 RGD:1304920 605473 HGNC:12510 "ENST00000311659.5|NM_017481.4" +HGNC:1237 UBQLN4 ubiquilin 4 protein-coding gene gene with protein product Approved 1q22 01q22 "A1U|UBIN" ataxin-1 ubiquitin-like interacting protein C1orf6 chromosome 1 open reading frame 6 Ubiquilin family 783 1999-01-11 2004-11-06 2004-11-05 2020-09-17 56893 ENSG00000160803 OTTHUMG00000017461 uc001fna.4 BC018403 NM_020131 CCDS1127 Q9NRR5 "10575211|11001934" MGI:2150152 RGD:1308273 605440 HGNC:1237 "ENST00000368309.4|NM_020131.5" +HGNC:31133 UBQLN4P1 ubiquilin 4 pseudogene 1 pseudogene pseudogene Approved 3q24 03q24 C3orf12 UBQLN4P ubiquilin 4 pseudogene 2004-11-05 2010-07-07 2010-07-07 2019-09-13 285329 ENSG00000241627 OTTHUMG00000159532 NG_005662 HGNC:31133 +HGNC:38662 UBQLN4P2 ubiquilin 4 pseudogene 2 pseudogene pseudogene Approved 2q23.3 02q23.3 2010-07-07 2014-11-19 100131393 ENSG00000226213 OTTHUMG00000154034 NG_028784 PGOHUM00000240987 HGNC:38662 +HGNC:28294 UBQLNL ubiquilin like protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "MGC20470|MGC26958" Ubiquilin family 783 2006-11-06 2017-06-13 2017-06-13 143630 ENSG00000175518 OTTHUMG00000066903 uc001maz.5 AK127987 NM_145053 CCDS31385 Q8IYU4 24674348 MGI:2685336 RGD:1307202 HGNC:28294 "ENST00000380184.2|NM_145053.5" +HGNC:16808 UBR1 ubiquitin protein ligase E3 component n-recognin 1 protein-coding gene gene with protein product Approved 15q15.2 15q15.2 Ubiquitin protein ligase E3 component n-recognins 785 2002-01-25 2021-05-26 197131 ENSG00000159459 OTTHUMG00000130702 uc001zqq.4 NM_174916 CCDS10091 Q8IWV7 9653112 MGI:1277977 RGD:1562326 605981 120373 HGNC:16808 "ENST00000290650.9|NM_174916.3" HGNC:16808 +HGNC:21289 UBR2 ubiquitin protein ligase E3 component n-recognin 2 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "bA49A4.1|dJ392M17.3|KIAA0349" C6orf133 chromosome 6 open reading frame 133 Ubiquitin protein ligase E3 component n-recognins 785 2003-11-26 2005-01-12 2005-01-10 2014-11-18 23304 ENSG00000024048 OTTHUMG00000014703 uc011dur.3 BC024217 NM_015255 "CCDS4870|CCDS55001|CCDS87404" Q8IWV8 MGI:1861099 RGD:1593237 609134 HGNC:21289 "ENST00000372901.2|NM_001363705.2" +HGNC:30467 UBR3 ubiquitin protein ligase E3 component n-recognin 3 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 "KIAA2024|DKFZp434P117|FLJ37422" ZNF650 "zinc finger protein 650|ubiquitin protein ligase E3 component n-recognin 3 (putative)" Ubiquitin protein ligase E3 component n-recognins 785 2004-12-13 2007-11-29 2018-06-08 2018-06-08 130507 ENSG00000144357 OTTHUMG00000132229 uc061pjp.1 AL834144 NM_172070 CCDS2238 Q6ZT12 "17462990|21933813" MGI:1861100 RGD:1565257 613831 HGNC:30467 "ENST00000272793.11|NM_172070.4" +HGNC:30313 UBR4 ubiquitin protein ligase E3 component n-recognin 4 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "KIAA1307|KIAA0462|RBAF600|p600" ZUBR1 zinc finger, UBR1 type 1 "Ubiquitin protein ligase E3 component n-recognins|Armadillo like helical domain containing" "785|1492" 2004-11-05 2007-06-19 2007-06-19 2021-05-26 23352 ENSG00000127481 OTTHUMG00000002498 uc001bbi.4 AF348492 NM_020765 CCDS189 Q5T4S7 "14702039|10718198|16055722" MGI:1916366 RGD:1563121 609890 HGNC:30313 "ENST00000375254.8|NM_020765.3" +HGNC:16806 UBR5 ubiquitin protein ligase E3 component n-recognin 5 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "DD5|HYD|EDD|KIAA0896" EDD1 E3 ubiquitin protein ligase, HECT domain containing, 1 "Ubiquitin protein ligase E3 component n-recognins|HECT domain containing" "785|1959" 2005-07-08 2007-06-19 2007-06-19 2016-10-05 51366 ENSG00000104517 OTTHUMG00000164755 uc003ykr.3 AF006010 NM_015902 "CCDS64946|CCDS34933" O95071 "10030672|16055722" MGI:1918040 RGD:621236 UBR5 608413 HGNC:16806 "ENST00000520539.6|NM_015902.6" +HGNC:51661 UBR5-DT UBR5 divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 UBR5-AS1 UBR5 antisense RNA 1 Divergent transcripts 1990 2015-04-24 2021-04-30 2021-04-30 2021-04-30 101927221 ENSG00000246263 OTTHUMG00000164878 NR_125415 UBR5-AS1 HGNC:51661 +HGNC:20344 UBR7 ubiquitin protein ligase E3 component n-recognin 7 protein-coding gene gene with protein product Approved 14q32.12 14q32.12 C14orf130 "chromosome 14 open reading frame 130|ubiquitin protein ligase E3 component n-recognin 7 (putative)" Ubiquitin protein ligase E3 component n-recognins 785 2003-01-28 2008-06-23 2019-10-08 2021-05-26 55148 ENSG00000012963 OTTHUMG00000171268 uc001ybm.4 AK001345 NM_175748 CCDS9909 Q8N806 "18162545|30923315" MGI:1913872 RGD:1359144 613816 HGNC:20344 "ENST00000013070.11|NM_175748.4" HGNC:20344 +HGNC:25683 UBTD1 ubiquitin domain containing 1 protein-coding gene gene with protein product Approved 10q24.1-q24.2 10q24.1-q24.2 FLJ11807 2004-05-27 2019-03-20 80019 ENSG00000165886 OTTHUMG00000018856 uc001knv.2 BC007331 NM_024954 CCDS7465 Q9HAC8 24211586 MGI:2385092 RGD:1308172 616388 HGNC:25683 "ENST00000370664.4|NM_024954.5" +HGNC:24463 UBTD2 ubiquitin domain containing 2 protein-coding gene gene with protein product Approved 5q35.1 05q35.1 "DC-UbP|MGC30022" dendritic cell derived ubiquitin like protein 2006-11-06 2014-11-19 92181 ENSG00000168246 OTTHUMG00000130519 uc003mbp.2 AF251700 NM_152277 CCDS4379 Q8WUN7 12507522 MGI:2444752 RGD:1305506 610174 HGNC:24463 "ENST00000393792.3|NM_152277.3" +HGNC:12511 UBTF upstream binding transcription factor protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "UBF|NOR-90|UBF1|UBF2" upstream binding transcription factor, RNA polymerase I MicroRNA protein coding host genes 1691 1993-11-25 2018-02-02 2018-02-02 7343 ENSG00000108312 OTTHUMG00000167585 uc010czt.3 BC042297 NM_014233 "CCDS11480|CCDS42346" P17480 "9126496|29300972" MGI:98512 RGD:3927 600673 HGNC:12511 "ENST00000436088.6|NM_014233.4" HGNC:12511 +HGNC:14533 UBTFL1 upstream binding transcription factor like 1 protein-coding gene gene with protein product Approved 11q14.3 11q14.3 C11orf27 "chromosome 11 open reading frame 27|upstream binding transcription factor, RNA polymerase I-like 1" 2001-02-28 2008-11-20 2018-02-02 2020-04-20 642623 ENSG00000255009 OTTHUMG00000155291 uc010rub.2 NM_001143975 CCDS44704 P0CB47 19915186 MGI:3588290 RGD:1563188 613696 PGOHUM00000257917 HGNC:14533 "ENST00000530464.2|NM_001143975.1" +HGNC:35169 UBTFL2 UBTF like 2 (pseudogene) pseudogene pseudogene Approved 11q14.3 11q14.3 "upstream binding transcription factor, RNA polymerase I-like 2|upstream binding transcription factor, RNA polymerase I-like 2 (pseudogene)" 2008-11-20 2018-02-02 2018-02-02 120126 ENSG00000234376 OTTHUMG00000167627 NG_012230 19915186 PGOHUM00000257847 HGNC:35169 +HGNC:35402 UBTFL3 UBTF like 3 (pseudogene) pseudogene pseudogene Approved 2q11.1 02q11.1 "upstream binding transcription factor, RNA polymerase I-like 3|upstream binding transcription factor, RNA polymerase I-like 3 (pseudogene)" 2008-11-20 2018-02-02 2018-02-02 129870 ENSG00000204699 OTTHUMG00000155161 NG_023214 PGOHUM00000258145 HGNC:35402 +HGNC:35405 UBTFL5 UBTF like 5 (pseudogene) pseudogene pseudogene Approved 2q11.1 02q11.1 "upstream binding transcription factor, RNA polymerase I-like 5|upstream binding transcription factor, RNA polymerase I-like 5 (pseudogene)" 2008-11-20 2018-02-02 2018-02-02 728231 ENSG00000204705 OTTHUMG00000155173 NG_023413 PGOHUM00000258129 HGNC:35405 +HGNC:35406 UBTFL6 UBTF like 6 (pseudogene) pseudogene pseudogene Approved 2q11.2 02q11.2 "upstream binding transcription factor, RNA polymerase I-like 6|upstream binding transcription factor, RNA polymerase I-like 6 (pseudogene)" 2008-11-20 2018-02-02 2018-02-02 643615 ENSG00000228970 OTTHUMG00000153012 NG_027836 P0CB48 MGI:3588290 RGD:1597382 PGOHUM00000258134 HGNC:35406 +HGNC:35404 UBTFL7 UBTF like 7 (pseudogene) pseudogene pseudogene Approved 11p11.12 11p11.12 "upstream binding transcription factor, RNA polymerase I-like 7|upstream binding transcription factor, RNA polymerase I-like 7 (pseudogene)" 2008-11-20 2018-02-02 2018-02-02 646759 ENSG00000229361 OTTHUMG00000165234 NG_006986 PGOHUM00000257875 HGNC:35404 +HGNC:44476 UBTFL8 UBTF like 8 (pseudogene) pseudogene pseudogene Approved 3p26.1 03p26.1 upstream binding transcription factor, RNA polymerase I-like 8 (pseudogene) 2012-11-05 2018-02-02 2018-02-02 643182 ENSG00000224082 OTTHUMG00000155239 NG_008907 PGOHUM00000237525 HGNC:44476 +HGNC:50286 UBTFL9 UBTF like 9 (pseudogene) pseudogene pseudogene Approved 11p11.12 11p11.12 upstream binding transcription factor, RNA polymerase I-like 9 (pseudogene) 2014-03-31 2018-02-02 2018-02-02 100128427 ENSG00000254567 OTTHUMG00000166642 NG_008910 PGOHUM00000257814 HGNC:50286 +HGNC:50287 UBTFL10 UBTF like 10 (pseudogene) pseudogene pseudogene Approved 11q14.3 11q14.3 upstream binding transcription factor, RNA polymerase I-like 10 (pseudogene) 2014-03-31 2018-02-02 2018-02-02 106480293 ENSG00000255385 OTTHUMG00000167622 NG_044200 PGOHUM00000257901 HGNC:50287 +HGNC:50288 UBTFL11 UBTF like 11 (pseudogene) pseudogene pseudogene Approved Xp11.4 Xp11.4 upstream binding transcription factor, RNA polymerase I-like 11 (pseudogene) 2014-03-31 2018-02-02 2018-02-02 442446 ENSG00000233007 OTTHUMG00000024088 NG_008905 PGOHUM00000241239 HGNC:50288 +HGNC:18402 UBXN1 UBX domain protein 1 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "LOC51035|2B28|UBXD10|SAKS1" SAPK substrate protein 1 UBX domain containing 364 2008-07-25 2008-07-25 2016-10-05 51035 ENSG00000162191 OTTHUMG00000167580 uc001nul.4 NM_015853 "CCDS66105|CCDS73307|CCDS8029" Q04323 "12838346|20351172" MGI:1289301 RGD:1309471 616378 HGNC:18402 "ENST00000301935.10|NM_001286077.2" +HGNC:27265 UBXN2A UBX domain protein 2A protein-coding gene gene with protein product Approved 2p23.3 02p23.3 UBXD4 UBX domain containing 4 UBX domain containing 364 2004-01-09 2008-07-25 2008-07-25 2019-03-20 165324 ENSG00000173960 OTTHUMG00000125497 uc010exy.4 BC037901 NM_181713 CCDS1704 P68543 "24625977|26634371" MGI:2442310 RGD:1589027 HGNC:27265 "ENST00000309033.5|NM_181713.4" +HGNC:27035 UBXN2B UBX domain protein 2B protein-coding gene gene with protein product Approved 8q12.1 08q12.1 p37 UBX domain containing 364 2008-07-25 2014-11-19 137886 ENSG00000215114 OTTHUMG00000164300 uc003xtl.3 AK054658 NM_001077619 "CCDS83297|CCDS43741" Q14CS0 "8619474|9110174" MGI:1915303 RGD:1308557 610686 HGNC:27035 "ENST00000399598.7|NM_001077619.2" +HGNC:14860 UBXN4 UBX domain protein 4 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 KIAA0242 erasin "UBXDC1|UBXD2" "UBX domain-containing 2|UBX domain containing 2" UBX domain containing 364 2001-02-28 2008-07-25 2008-07-25 2016-10-05 23190 ENSG00000144224 OTTHUMG00000153577 uc002tur.4 D87684 NM_014607 CCDS42761 Q92575 16968747 MGI:1915062 RGD:1307451 611216 HGNC:14860 "ENST00000272638.14|NM_014607.4" +HGNC:14928 UBXN6 UBX domain protein 6 protein-coding gene gene with protein product Approved 19p13 19p13 UBXDC2 UBXD1 "UBX domain-containing 1|UBX domain containing 1" UBX domain containing 364 2001-10-04 2008-07-25 2008-07-25 2020-04-01 80700 ENSG00000167671 OTTHUMG00000181954 uc002man.3 AF272893 NM_025241 "CCDS12129|CCDS54201" Q9BZV1 11342112 MGI:1913780 RGD:1590866 611946 HGNC:14928 "ENST00000301281.11|NM_025241.3" +HGNC:29119 UBXN7 UBX domain protein 7 protein-coding gene gene with protein product Approved 3q29 03q29 KIAA0794 UBXD7 UBX domain containing 7 UBX domain containing 364 2006-01-06 2008-07-25 2008-07-25 2018-11-22 26043 ENSG00000163960 OTTHUMG00000155639 uc003fwm.5 AB018337 NM_015562 CCDS43191 O94888 "9872452|22537386" MGI:2146388 RGD:1306346 616379 HGNC:29119 "ENST00000296328.9|NM_015562.2" +HGNC:41227 UBXN7-AS1 UBXN7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 UBXN7 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-18 100874034 ENSG00000225822 OTTHUMG00000155674 uc062sbo.1 NR_046745 UBXN7-AS1 HGNC:41227 +HGNC:30307 UBXN8 UBX domain protein 8 protein-coding gene gene with protein product Approved 8p12 08p12 "D8S2298E|REP8" UBXD6 UBX domain containing 6 UBX domain containing 364 2005-08-11 2008-07-25 2008-07-25 2016-01-15 7993 ENSG00000104691 OTTHUMG00000163851 uc033bgh.2 D83767 NM_005671 "CCDS75724|CCDS75725|CCDS75723" O00124 "9027507|21949850" MGI:1337129 RGD:1306023 602155 HGNC:30307 "ENST00000265616.10|NM_005671.4" +HGNC:26354 UBXN10 UBX domain protein 10 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 FLJ25429 UBXD3 UBX domain containing 3 UBX domain containing 364 2004-01-09 2008-07-25 2008-07-25 2019-03-20 127733 ENSG00000162543 OTTHUMG00000002708 uc001bdb.4 AK058158 NM_152376 CCDS205 Q96LJ8 26389662 MGI:2443123 RGD:1308335 616783 HGNC:26354 "ENST00000375099.4|NM_152376.5" +HGNC:30600 UBXN11 UBX domain protein 11 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "SOC|SOCI" socius UBXD5 UBX domain containing 5 UBX domain containing 364 2005-07-27 2008-07-25 2008-07-25 2014-11-18 91544 ENSG00000158062 OTTHUMG00000003382 uc057dqd.1 AF521017 NM_145345 "CCDS41287|CCDS41288|CCDS41286" Q5T124 11940653 MGI:1914836 RGD:620769 609151 HGNC:30600 "ENST00000374222.6|NM_001389556.1" +HGNC:37126 UCA1 urothelial cancer associated 1 non-coding RNA RNA, long non-coding Approved 19p13.12 19p13.12 "LINC00178|CUDR|UCAT1|onco-lncRNA-36" "long intergenic non-protein coding RNA 178|cancer up-regulated drug resistant" urothelial cancer associated 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2009-07-15 2018-05-16 2018-05-16 652995 ENSG00000214049 OTTHUMG00000182287 uc002nbr.5 BC005351 NR_015379 "18501714|17416635|23801869|27854515" 617500 uca1 UCA1 HGNC:37126 +HGNC:12513 UCHL1 ubiquitin C-terminal hydrolase L1 protein-coding gene gene with protein product Approved 4p13 04p13 "PGP9.5|Uch-L1|UCHL-1" ubiquitin thiolesterase PARK5 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) Ubiquitin C-terminal hydrolases 998 1991-07-15 2015-11-13 2022-02-10 7345 ENSG00000154277 OTTHUMG00000099377 uc003gvo.4 BC000332 NM_004181 CCDS3462 P09936 1840236 MGI:103149 RGD:3928 191342 120375 C12.001 objectId:2426 3.4.19.12 HGNC:12513 "ENST00000284440.9|NM_004181.5" HGNC:12513 +HGNC:40600 UCHL1-DT UCHL1 divergent transcript non-coding RNA RNA, long non-coding Approved 4p13 04p13 UCHL1-AS1 UCHL1 antisense RNA 1 (head to head) Divergent transcripts 1990 2012-12-01 2021-03-24 2021-03-24 2021-03-24 101410542 ENSG00000251173 OTTHUMG00000160405 uc031sec.1 "DB169394|CN277289" NR_102709 UCHL1-AS1 HGNC:40600 +HGNC:12515 UCHL3 ubiquitin C-terminal hydrolase L3 protein-coding gene gene with protein product Approved 13q22.2 13q22.2 ubiquitin thiolesterase ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) Ubiquitin C-terminal hydrolases 998 1991-07-15 2015-11-13 2016-10-05 7347 ENSG00000118939 OTTHUMG00000017090 uc001vjq.5 M30496 NM_006002 "CCDS73586|CCDS9453" P15374 2530630 MGI:1355274 RGD:1561196 603090 C12.003 objectId:2427 3.2.1.15 HGNC:12515 "ENST00000377595.8|NM_006002.5" +HGNC:19678 UCHL5 ubiquitin C-terminal hydrolase L5 protein-coding gene gene with protein product Approved 1q31.2 01q31.2 "UCH37|CGI-70|INO80R" INO80 complex subunit R ubiquitin carboxyl-terminal hydrolase L5 "INO80 complex |Ubiquitin C-terminal hydrolases" "595|998" 2002-11-11 2015-11-13 2016-10-05 51377 ENSG00000116750 OTTHUMG00000035561 uc001gsm.4 NM_015984 "CCDS55669|CCDS55668|CCDS1378|CCDS55670|CCDS86041" Q9Y5K5 "10810093|16027725" MGI:1914848 RGD:1305414 610667 C12.005 HGNC:19678 "ENST00000367454.6|NM_001199261.3" +HGNC:14859 UCK1 uridine-cytidine kinase 1 protein-coding gene gene with protein product Approved 9q34.13 09q34.13 "URK1|FLJ12255" 2004-05-28 2016-10-05 83549 ENSG00000130717 OTTHUMG00000020823 uc004cay.4 AF237290 NM_031432 "CCDS59152|CCDS6944|CCDS59151|CCDS48046" Q9HA47 11306702 MGI:98904 RGD:1308313 609328 2.7.1.48 HGNC:14859 "ENST00000372215.5|NM_031432.5" +HGNC:12562 UCK2 uridine-cytidine kinase 2 protein-coding gene gene with protein product Approved 1q24.1 01q24.1 UMPK uridine monophosphate kinase MicroRNA protein coding host genes 1691 2001-06-22 2004-07-14 2004-07-13 2016-10-05 7371 ENSG00000143179 OTTHUMG00000040117 uc021pec.2 AF236637 NM_012474 "CCDS86027|CCDS1252" Q9BZX2 MGI:1931744 RGD:620742 609329 2.7.1.48 HGNC:12562 "ENST00000367879.9|NM_012474.5" +HGNC:15938 UCKL1 uridine-cytidine kinase 1 like 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 FLJ20517 URKL1 "uridine kinase-like 1|uridine-cytidine kinase 1-like 1" MicroRNA protein coding host genes 1691 2001-06-21 2004-07-13 2016-04-06 2016-04-06 54963 ENSG00000198276 OTTHUMG00000033003 uc011abm.3 AK000524 NM_017859 "CCDS13547|CCDS54479" Q9NWZ5 MGI:1915806 RGD:1565465 610866 HGNC:15938 "ENST00000354216.11|NM_017859.4" +HGNC:31967 UCKL1-AS1 UCKL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 FLJ46647 "UCKL1OS|UCKL1AS|UCKL1-AS" "uridine-cytidine kinase 1-like 1 opposite strand|UCKL1 antisense RNA (non-protein coding)|UCKL1 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2007-07-25 2010-11-25 2012-08-15 2012-10-12 100113386 ENSG00000280213 OTTHUMG00000187354 uc061yql.1 AK128497 NR_027287 UCKL1-AS1 HGNC:31967 +HGNC:25205 UCMA upper zone of growth plate and cartilage matrix associated protein-coding gene gene with protein product Approved 10p13 10p13 GRP Gla-rich protein C10orf49 chromosome 10 open reading frame 49 2004-05-27 2009-03-25 2009-03-25 2019-03-20 221044 ENSG00000165623 OTTHUMG00000017692 uc057rts.1 BC018068 NM_145314 CCDS31147 Q8WVF2 "18156182|19819238" MGI:1915777 RGD:1308977 HGNC:25205 "ENST00000378681.8|NM_145314.3" +HGNC:12516 UCN urocortin protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "UROC|UI" prepro-urocortin Neuropeptides 1902 1998-01-21 2014-12-19 7349 ENSG00000163794 OTTHUMG00000097068 uc002rjp.2 AF038633 NM_003353 CCDS1747 P55089 "9628819|861256" MGI:1276123 RGD:3929 600945 ligandId:919 HGNC:12516 "ENST00000296099.2|NM_003353.4" +HGNC:18414 UCN2 urocortin 2 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "UCNI|SRP|URP|UCN-II" prepro-urocortin 2 Neuropeptides 1902 2004-04-20 2016-10-05 90226 ENSG00000145040 OTTHUMG00000133533 uc003cty.2 AF320560 NM_033199 CCDS2772 Q96RP3 11329063 MGI:2176375 RGD:620765 605902 ligandId:921 HGNC:18414 "ENST00000273610.4|NM_033199.4" +HGNC:17781 UCN3 urocortin 3 protein-coding gene gene with protein product Approved 10p15.1 10p15.1 "UCNIII|SPC" "stresscopin|prepro-urocortin 3" Neuropeptides 1902 2003-11-06 2012-10-17 2014-11-19 114131 ENSG00000178473 OTTHUMG00000017594 uc001ihx.2 AF361943 NM_053049 CCDS7065 Q969E3 11416224 MGI:1932970 RGD:1562213 605901 ligandId:928 HGNC:17781 "ENST00000380433.5|NM_053049.4" +HGNC:12517 UCP1 uncoupling protein 1 protein-coding gene gene with protein product Approved 4q31.1 04q31.1 SLC25A7 UCP uncoupling protein 1 (mitochondrial, proton carrier) Solute carriers 752 1991-08-19 2016-04-28 2016-04-28 7350 ENSG00000109424 OTTHUMG00000133415 uc011chj.3 X51955 NM_021833 CCDS3753 P25874 2380264 MGI:98894 RGD:3931 113730 SLC25A7 objectId:1066 HGNC:12517 "ENST00000262999.4|NM_021833.5" +HGNC:12518 UCP2 uncoupling protein 2 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 SLC25A8 BMIQ4 "body mass index QTL 4|body mass index quantitative trait 4|uncoupling protein 2 (mitochondrial, proton carrier)" Solute carriers 752 1997-07-11 2016-04-28 2019-08-21 7351 ENSG00000175567 OTTHUMG00000168095 uc001oup.2 U76367 NM_003355 CCDS8228 P55851 "9196039|11381268" MGI:109354 RGD:3932 601693 SLC25A8 298784 objectId:1067 HGNC:12518 "ENST00000663595.2|NM_003355.3" HGNC:12518 +HGNC:12519 UCP3 uncoupling protein 3 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 SLC25A9 uncoupling protein 3 (mitochondrial, proton carrier) Solute carriers 752 1997-07-11 2016-04-28 2019-08-21 7352 ENSG00000175564 OTTHUMG00000168109 uc001our.4 AF001787 NM_003356 "CCDS8229|CCDS44677" P55916 "9480760|9196039" MGI:1099787 RGD:3933 602044 SLC25A9 objectId:1068 HGNC:12519 "ENST00000314032.9|NM_003356.4" +HGNC:30866 UEVLD UEV and lactate/malate dehyrogenase domains protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "Attp|UEV3" 2006-07-14 2014-11-19 55293 ENSG00000151116 OTTHUMG00000167729 uc001mot.5 AF503350 NM_018314 "CCDS58124|CCDS58122|CCDS7843|CCDS58123|CCDS58125|CCDS41624|CCDS73266" Q8IX04 12427560 MGI:1860490 RGD:1587416 610985 HGNC:30866 "ENST00000396197.8|NM_001040697.4" +HGNC:26941 UFC1 ubiquitin-fold modifier conjugating enzyme 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 HSPC155 2005-05-27 2021-05-26 51506 ENSG00000143222 OTTHUMG00000033155 uc001fyd.5 AF161504 NM_016406 CCDS1220 Q9Y3C8 "15071506|11042152" MGI:1913405 RGD:1303313 610554 HGNC:26941 "ENST00000368003.6|NM_016406.4" HGNC:26941 +HGNC:12520 UFD1 ubiquitin recognition factor in ER associated degradation 1 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 UFD1L "ubiquitin fusion degradation 1-like|ubiquitin fusion degradation 1 like (yeast)" 1997-05-09 2017-02-21 2017-02-21 2017-02-21 7353 ENSG00000070010 OTTHUMG00000150130 uc002zpm.3 AJ239058 NM_001035247 "CCDS33600|CCDS13761" Q92890 9063746 MGI:109353 RGD:619822 601754 159084 HGNC:12520 "ENST00000263202.15|NM_005659.7" +HGNC:55917 UFD1-AS1 UFD1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q11.21 22q11.21 Antisense RNAs 1987 2021-10-11 2021-10-11 105372860 ENSG00000185065 +HGNC:23039 UFL1 UFM1 specific ligase 1 protein-coding gene gene with protein product Approved 6q16.1 06q16.1 "NLBP|Maxer|RCAD" "novel LZAP-binding protein|Regulator of CDK5RAP3 and DDRGK1" KIAA0776 "KIAA0776|UFM1-specific ligase 1" 2003-11-21 2011-08-18 2016-03-11 2016-10-05 23376 ENSG00000014123 OTTHUMG00000015238 uc003por.4 BC036379 NM_015323 CCDS5034 O94874 "20018847|20164180|20228063|20531390" MGI:1914740 RGD:1309308 613372 HGNC:23039 "ENST00000369278.5|NM_015323.5" +HGNC:41007 UFL1-AS1 UFL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q16.1 06q16.1 UFL1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2021-07-05 100861530 ENSG00000233797 OTTHUMG00000015237 uc063qdw.1 "BM126999|BM127608" XR_001744265 UFL1-AS1 HGNC:41007 +HGNC:20597 UFM1 ubiquitin fold modifier 1 protein-coding gene gene with protein product Approved 13q13.3 13q13.3 bA131P10.1 C13orf20 chromosome 13 open reading frame 20 2004-04-16 2005-05-27 2016-07-06 2021-05-26 51569 ENSG00000120686 OTTHUMG00000017409 uc001uwu.5 AF208844 NM_016617 "CCDS9366|CCDS66533" P61960 15071506 MGI:1915140 RGD:1304890 610553 471288 HGNC:20597 "ENST00000239878.9|NM_016617.4" HGNC:20597 +HGNC:55146 UFM1P1 UFM1 pseudogene 1 pseudogene pseudogene Approved Xq27.3 Xq27.3 2020-07-15 2020-07-15 102443352 ENSG00000270709 NG_033831 +HGNC:55147 UFM1P2 UFM1 pseudogene 2 pseudogene pseudogene Approved 17q12 17q12 2020-07-15 2020-07-15 729835 ENSG00000267315 NG_030096 +HGNC:55148 UFM1P3 UFM1 pseudogene 3 pseudogene pseudogene Approved 8q22.2 08q22.2 UFM1P1 2020-07-15 2020-07-15 2020-07-15 2020-07-15 100506633 ENSG00000253299 NG_030252 +HGNC:33821 UFSP1 UFM1 specific peptidase 1 (inactive) protein-coding gene gene with protein product Approved 7q22.1 07q22.1 UFSP UFM1-specific peptidase 1 (non-functional) 2008-03-25 2016-07-04 2016-07-04 402682 ENSG00000176125 OTTHUMG00000159662 uc003uxc.4 AF312032 NM_001015072 CCDS34710 Q6NVU6 "17182609|18321862" MGI:1917490 RGD:7536909 611481 C78.001 HGNC:33821 "ENST00000388761.4|NM_001015072.4" +HGNC:25640 UFSP2 UFM1 specific peptidase 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 FLJ11200 C4orf20 chromosome 4 open reading frame 20 2006-03-24 2008-03-25 2016-07-04 2021-05-26 55325 ENSG00000109775 OTTHUMG00000160441 uc003ixo.3 AK002062 NM_018359 CCDS3842 Q9NUQ7 17182609 MGI:1913679 RGD:1311161 611482 436858 HGNC:25640 "ENST00000264689.11|NM_018359.5" HGNC:25640 +HGNC:12524 UGCG UDP-glucose ceramide glucosyltransferase protein-coding gene gene with protein product Approved 9q31.3 09q31.3 GCS "glucosylceramide synthase|ceramide glucosyltransferase" "UDP-glucose ceramide glucosyltransferases|MicroRNA protein coding host genes" "450|1691" 1997-08-28 2016-10-05 7357 ENSG00000148154 OTTHUMG00000020498 uc004bft.4 D50840 NM_003358 CCDS6782 Q16739 "8643456|9605861" MGI:1332243 RGD:621870 602874 objectId:2528 2.4.1.80 HGNC:12524 "ENST00000374279.4|NM_003358.3" HGNC:12524 +HGNC:12525 UGDH UDP-glucose 6-dehydrogenase protein-coding gene gene with protein product Approved 4p14 04p14 UDP-glucose dehydrogenase 1997-12-01 2010-04-28 2015-08-24 7358 ENSG00000109814 OTTHUMG00000099371 uc003guk.3 AF061016 NM_003359 "CCDS3455|CCDS54757|CCDS54758" O60701 "9737970|10575217" MGI:1306785 RGD:621879 603370 1.1.1.22 HGNC:12525 "ENST00000316423.11|NM_003359.4" HGNC:12525 +HGNC:40601 UGDH-AS1 UGDH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4p14 04p14 UGDH antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-07 2012-08-15 2018-06-15 100885776 ENSG00000249348 OTTHUMG00000160540 uc003gum.3 NR_047679 29901136 UGDH-AS1 HGNC:40601 +HGNC:15663 UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 HUGT1 UGCGL1 UDP-glucose ceramide glucosyltransferase-like 1 UDP-glucose glycoprotein glucosyltransferases 440 2001-06-05 2009-07-23 2009-07-23 2014-11-19 56886 ENSG00000136731 OTTHUMG00000131570 uc002tps.4 AF227905 NM_020120 CCDS2154 Q9NYU2 10694380 MGI:2443162 RGD:619710 605897 HGNC:15663 "ENST00000259253.11|NM_020120.4" +HGNC:15664 UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 protein-coding gene gene with protein product Approved 13q32.1 13q32.1 "FLJ11485|HUGT2|FLJ10873|MGC150689|MGC87276|MGC117360" UDP-glucose:glycoprotein glucosyltransferase 2 UGCGL2 UDP-glucose ceramide glucosyltransferase-like 2 UDP-glucose glycoprotein glucosyltransferases 440 2001-06-05 2009-07-23 2009-07-23 2014-11-19 55757 ENSG00000102595 OTTHUMG00000017230 uc001vmt.5 AF227906 NM_020121 CCDS9480 Q9NYU1 10694380 MGI:1913685 RGD:1563520 605898 HGNC:15664 "ENST00000376747.8|NM_020121.4" +HGNC:12527 UGP2 UDP-glucose pyrophosphorylase 2 protein-coding gene gene with protein product Approved 2p15 02p15 "UGPP1|SVUGP2" UTP--glucose-1-phosphate uridylyltransferase UGP1 UDP-glucose pyrophosphorylase 1 2001-06-22 2021-05-26 7360 ENSG00000169764 OTTHUMG00000129513 uc002scm.4 NM_006759 "CCDS1875|CCDS42690" Q16851 MGI:2183447 RGD:1310210 191760 2.7.7.9 HGNC:12527 "ENST00000337130.10|NM_006759.4" HGNC:12527 +HGNC:12529 UGT1A UDP glucuronosyltransferase family 1 member A complex locus protein-coding gene gene with protein product Approved 2q37 02q37 UGT UGT1A@ "UDP glycosyltransferase 1 family, polypeptide A cluster|UDP glucuronosyltransferase 1 family, polypeptide A cluster|UDP glucuronosyltransferase 1 family, polypeptide A complex locus" UDP glucuronosyltransferases 363 1997-09-05 2010-03-05 2016-03-01 2016-03-01 7361 NG_002601 HGNC:12529 +HGNC:12530 UGT1A1 UDP glucuronosyltransferase family 1 member A1 other complex locus constituent Approved 2q37.1 02q37.1 UGT1A "UGT1|GNT1" UDP glycosyltransferase 1 family, polypeptide A1 UDP glucuronosyltransferases 363 1989-02-13 2016-03-01 2021-05-26 54658 ENSG00000241635 OTTHUMG00000059117 uc002vvb.4 M57899 NM_000463 CCDS2510 P22309 "9295054|9535849" MGI:98898 RGD:3935 LRG_733|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_733.xml 191740 120380 objectId:2990 2.4.1.17 HGNC:12530 "ENST00000305208.10|NM_000463.3" HGNC:12530 +HGNC:12534 UGT1A2P UDP glucuronosyltransferase family 1 member A2, pseudogene other complex locus constituent Approved 2q37.1 02q37.1 UGT1BP UDP glycosyltransferase 1 family, polypeptide A2 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54580 ENSG00000228445 OTTHUMG00000059035 M84126 NG_001285 "9295054|1339448" PGOHUM00000298916 HGNC:12534 +HGNC:12535 UGT1A3 UDP glucuronosyltransferase family 1 member A3 other complex locus constituent Approved 2q37.1 02q37.1 UGT1C UDP glycosyltransferase 1 family, polypeptide A3 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2021-08-17 54659 ENSG00000288702 OTTHUMG00000059118 uc002vuy.4 M84127 NM_019093 CCDS2509 P35503 "9295054|1339448|11434514" MGI:3576049 RGD:1549741 606428 HGNC:12535 "ENST00000482026.6|NM_019093.4" +HGNC:12536 UGT1A4 UDP glucuronosyltransferase family 1 member A4 other complex locus constituent Approved 2q37.1 02q37.1 "HUG-BR2|UGT1D" UDP glycosyltransferase 1 family, polypeptide A4 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54657 ENSG00000244474 OTTHUMG00000059119 uc002vux.4 M84128 NM_007120 CCDS33405 P22310 "9295054|1339448" MGI:3032634 RGD:1583689 606429 471290 HGNC:12536 "ENST00000373409.8|NM_007120.3" +HGNC:12537 UGT1A5 UDP glucuronosyltransferase family 1 member A5 other complex locus constituent Approved 2q37.1 02q37.1 UGT1E UDP glycosyltransferase 1 family, polypeptide A5 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2021-08-17 54579 ENSG00000288705 OTTHUMG00000059120 uc002vuw.4 M84129 NM_019078 CCDS33404 P35504 "9295054|1339448" MGI:3576049 RGD:1549728 606430 HGNC:12537 "ENST00000373414.4|NM_019078.2" +HGNC:12538 UGT1A6 UDP glucuronosyltransferase family 1 member A6 other complex locus constituent Approved 2q37.1 02q37.1 "HLUGP|GNT1|UGT1F" UDP glycosyltransferase 1 family, polypeptide A6 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-10-05 54578 ENSG00000167165 OTTHUMG00000059122 uc002vuv.5 M84130 NM_205862 "CCDS2508|CCDS2507" P19224 "9295054|1339448" MGI:3580629 RGD:620949 606431 HGNC:12538 "ENST00000305139.11|NM_001072.4" +HGNC:12539 UGT1A7 UDP glucuronosyltransferase family 1 member A7 other complex locus constituent Approved 2q37.1 02q37.1 UGT1G UDP glycosyltransferase 1 family, polypeptide A7 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-10-05 54577 ENSG00000244122 OTTHUMG00000059004 uc002vut.4 U39570 NM_019077 CCDS2506 Q9HAW7 "9295054|11434514" "MGI:3032636|MGI:3576092|MGI:3580642" 606432 471292 HGNC:12539 "ENST00000373426.4|NM_019077.3" +HGNC:12540 UGT1A8 UDP glucuronosyltransferase family 1 member A8 other complex locus constituent Approved 2q37.1 02q37.1 UGT1H UDP glycosyltransferase 1 family, polypeptide A8 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54576 ENSG00000242366 OTTHUMG00000059123 uc002vup.4 U42604 NM_019076 CCDS33402 Q9HAW9 "9295054|12042666" "MGI:3032636|MGI:3576092|MGI:3580642" RGD:708474 606433 HGNC:12540 "ENST00000373450.5|NM_019076.5" +HGNC:12541 UGT1A9 UDP glucuronosyltransferase family 1 member A9 other complex locus constituent Approved 2q37.1 02q37.1 "HLUGP4|LUGP4|UGT1AI" UDP glycosyltransferase 1 family, polypeptide A9 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-10-05 54600 ENSG00000241119 OTTHUMG00000059124 uc002vus.4 AF056188 NM_021027 CCDS2505 O60656 "9295054|1910331" "MGI:3032636|MGI:3576092|MGI:3580642" RGD:1549771 606434 HGNC:12541 "ENST00000354728.5|NM_021027.3" +HGNC:12531 UGT1A10 UDP glucuronosyltransferase family 1 member A10 other complex locus constituent Approved 2q37.1 02q37.1 UGT1J UDP glycosyltransferase 1 family, polypeptide A10 UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-10-05 54575 ENSG00000242515 OTTHUMG00000059121 uc002vur.4 U39550 NM_019075 CCDS33403 Q9HAW8 "9295054|9325166" "MGI:3032636|MGI:3576092|MGI:3580642" 606435 HGNC:12531 "ENST00000344644.10|NM_019075.4" +HGNC:12532 UGT1A11P UDP glucuronosyltransferase family 1 member A11, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 UGT1K UDP glycosyltransferase 1 family, polypeptide A11 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-10-05 54574 ENSG00000227846 OTTHUMG00000059006 U39551 NG_023769 9295054 PGOHUM00000298914 HGNC:12532 +HGNC:12533 UGT1A12P UDP glucuronosyltransferase family 1 member A12, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 UGT1L UDP glycosyltransferase 1 family, polypeptide A12 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54573 ENSG00000228949 OTTHUMG00000059116 U39552 NG_002601 9295054 PGOHUM00000298913 HGNC:12533 +HGNC:32191 UGT1A13P UDP glucuronosyltransferase family 1 member A13, pseudogene pseudogene pseudogene Approved 2q37.1 02q37.1 UDP glucuronosyltransferase 1 family, polypeptide A13 pseudogene UDP glucuronosyltransferases 363 2005-08-09 2016-03-01 2016-03-01 404204 ENSG00000234143 OTTHUMG00000059007 AF297093 NG_023770 11434514 PGOHUM00000298915 HGNC:32191 +HGNC:12542 UGT2A1 UDP glucuronosyltransferase family 2 member A1 complex locus protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "UDP glycosyltransferase 2 family, polypeptide A1|UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus" UDP glucuronosyltransferases 363 1999-08-12 2016-03-01 2016-03-01 10941 ENSG00000173610 OTTHUMG00000184942 uc062xbf.1 AJ006054 NM_006798 "CCDS58901|CCDS58902|CCDS3529|CCDS77925" P0DTE4 10359671 MGI:2149905 RGD:69432 604716 HGNC:12542 "ENST00000286604.9|NM_001252275.3" +HGNC:28183 UGT2A2 UDP glucuronosyltransferase family 2 member A2 other complex locus constituent Approved 4q13.3 04q13.3 UDP glucuronosyltransferase 2 family, polypeptide A2 UDP glucuronosyltransferases 363 2005-07-20 2016-03-01 2016-03-01 574537 ENSG00000271271 OTTHUMG00000129398 uc010ihs.4 NM_001105677 "CCDS77924|CCDS56331" P0DTE5 MGI:3576095 619809 HGNC:28183 "ENST00000604629.6|NM_001105677.2" +HGNC:28528 UGT2A3 UDP glucuronosyltransferase family 2 member A3 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 FLJ21934 UDP glucuronosyltransferase 2 family, polypeptide A3 UDP glucuronosyltransferases 363 2005-07-20 2016-03-01 2016-03-01 79799 ENSG00000135220 OTTHUMG00000129408 uc003hef.3 NM_024743 CCDS3525 Q6UWM9 MGI:1919344 RGD:1308444 616382 HGNC:28528 "ENST00000251566.9|NM_024743.4" +HGNC:39429 UGT2A3P7 UDP glucuronosyltransferase family 2 member A3 pseudogene 7 pseudogene pseudogene Approved 4q13.3 04q13.3 UDP glucuronosyltransferase 2 family, polypeptide A3 pseudogene 7 2010-12-14 2016-03-01 2016-03-01 100422023 ENSG00000248886 OTTHUMG00000161619 NG_025126 PGOHUM00000299879 HGNC:39429 +HGNC:12553 UGT2B4 UDP glucuronosyltransferase family 2 member B4 protein-coding gene gene with protein product Approved 4q13.3 04q13.3 UGT2B11 UDP glycosyltransferase 2 family, polypeptide B4 UDP glucuronosyltransferases 363 1997-07-01 2016-03-01 2016-03-01 7363 ENSG00000156096 OTTHUMG00000058891 uc003hek.4 BC026264 NM_021139 "CCDS43234|CCDS75137" P06133 "3109396|7835904" "MGI:1919023|MGI:2140962" 600067 HGNC:12553 "ENST00000305107.7|NM_021139.3" +HGNC:12554 UGT2B7 UDP glucuronosyltransferase family 2 member B7 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UGT2B9 UDP glycosyltransferase 2 family, polypeptide B7 UDP glucuronosyltransferases 363 1997-07-01 2016-03-01 2016-10-05 7364 ENSG00000171234 OTTHUMG00000129404 uc003heg.4 BC030974 NM_001074 "CCDS3526|CCDS82930" P16662 "2159463|7835904" "MGI:1919023|MGI:2140962" RGD:708417 600068 HGNC:12554 "ENST00000305231.12|NM_001074.4" +HGNC:12544 UGT2B10 UDP glucuronosyltransferase family 2 member B10 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B10 UDP glucuronosyltransferases 363 1997-07-01 2016-03-01 2016-03-01 7365 ENSG00000109181 OTTHUMG00000161505 uc003hee.4 X63359 NM_001075 "CCDS75136|CCDS75135" P36537 8333863 "MGI:1919023|MGI:2140962" 600070 HGNC:12544 "ENST00000265403.12|NM_001075.6" +HGNC:12545 UGT2B11 UDP glucuronosyltransferase family 2 member B11 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B11 UDP glucuronosyltransferases 363 1998-09-29 2016-03-01 2016-10-05 10720 ENSG00000213759 OTTHUMG00000129395 uc062xas.1 AF016492 NM_001073 CCDS3527 O75310 9675083 "MGI:1919023|MGI:2140962" 603064 HGNC:12545 "ENST00000446444.2|NM_001073.3" +HGNC:12546 UGT2B15 UDP glucuronosyltransferase family 2 member B15 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UGT2B8 UDP glycosyltransferase 2 family, polypeptide B15 UDP glucuronosyltransferases 363 1997-07-01 2016-03-01 2016-10-05 7366 ENSG00000196620 OTTHUMG00000161507 uc062xap.1 AF180322 NM_001076 CCDS3524 P54855 7835904 "MGI:98900|MGI:1919023|MGI:2140794|MGI:2148239|MGI:3576100|MGI:3576103" 600069 HGNC:12546 "ENST00000338206.6|NM_001076.4" +HGNC:12547 UGT2B17 UDP glucuronosyltransferase family 2 member B17 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B17 "UDP glucuronosyltransferases|Minor histocompatibility antigens" "363|870" 1997-07-01 2016-03-01 2016-10-05 7367 ENSG00000197888 OTTHUMG00000129305 uc021xov.2 U59209 NM_001077 CCDS3523 O75795 8798464 "MGI:98900|MGI:1919023|MGI:2140794|MGI:2148239|MGI:3576100|MGI:3576103" RGD:708541 601903 HGNC:12547 "ENST00000317746.3|NM_001077.4" +HGNC:12548 UGT2B24P UDP glucuronosyltransferase family 2 member B24, pseudogene pseudogene pseudogene Approved 4q13.3 04q13.3 UDP glycosyltransferase 2 family, polypeptide B24 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54572 ENSG00000249956 OTTHUMG00000161615 AF179876 NG_001282 10623541 PGOHUM00000300255 HGNC:12548 +HGNC:12549 UGT2B25P UDP glucuronosyltransferase family 2 member B25, pseudogene pseudogene pseudogene Approved 4q13.2-q13.3 04q13.2-q13.3 "UDP glycosyltransferase 2 family, polypeptide B25 pseudogene|UDP glucuronosyltransferase 2 family, polypeptide B25 pseudogene" UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2018-02-13 54571 ENSG00000215110 OTTHUMG00000161617 AF179877 NG_001281 10623541 PGOHUM00000300253 HGNC:12549 +HGNC:12550 UGT2B26P UDP glucuronosyltransferase family 2 member B26, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B26 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54570 ENSG00000250919 OTTHUMG00000161514 AF179878 NG_001280 10623541 PGOHUM00000300242 HGNC:12550 +HGNC:12551 UGT2B27P UDP glucuronosyltransferase family 2 member B27, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B27 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54569 ENSG00000251685 OTTHUMG00000161513 AF179879 NG_001279 10623541 PGOHUM00000299875 HGNC:12551 +HGNC:13479 UGT2B28 UDP glucuronosyltransferase family 2 member B28 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B28 UDP glucuronosyltransferases 363 2001-06-25 2016-03-01 2016-10-05 54490 ENSG00000135226 OTTHUMG00000129401 uc003hej.3 AF177272 NM_053039 "CCDS3528|CCDS56330" Q9BY64 11300766 "MGI:1919023|MGI:2140962" RGD:1559459 606497 HGNC:13479 "ENST00000335568.10|NM_053039.2" +HGNC:12552 UGT2B29P UDP glucuronosyltransferase family 2 member B29, pseudogene pseudogene pseudogene Approved 4q13.2 04q13.2 UDP glycosyltransferase 2 family, polypeptide B28 pseudogene UDP glucuronosyltransferases 363 2000-06-22 2016-03-01 2016-03-01 54568 ENSG00000250566 OTTHUMG00000160743 AF179880 NG_001278 10623541 PGOHUM00000299862 HGNC:12552 +HGNC:26625 UGT3A1 UDP glycosyltransferase family 3 member A1 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 FLJ34658 UDP glycosyltransferase 3 family, polypeptide A1 UDP glucuronosyltransferases 363 2005-07-20 2016-03-01 2016-03-01 133688 ENSG00000145626 OTTHUMG00000131107 uc003jjv.3 NM_152404 "CCDS54841|CCDS3913" Q6NUS8 "MGI:2146055|MGI:2145969" RGD:1564365 616383 HGNC:26625 "ENST00000274278.8|NM_152404.4" +HGNC:27266 UGT3A2 UDP glycosyltransferase family 3 member A2 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 UDP glycosyltransferase 3 family, polypeptide A2 UDP glucuronosyltransferases 363 2005-07-20 2016-03-01 2016-03-01 167127 ENSG00000168671 OTTHUMG00000131108 uc003jjz.3 NM_174914 "CCDS3914|CCDS54842" Q3SY77 12975309 "MGI:2146055|MGI:2145969" 616384 HGNC:27266 "ENST00000282507.8|NM_174914.4" +HGNC:12555 UGT8 UDP glycosyltransferase 8 protein-coding gene gene with protein product Approved 4q26 04q26 2-hydroxyacylsphingosine 1-beta-galactosyltransferase CGT UDP-galactose ceramide galactosyltransferase "UDP glucuronosyltransferases|MicroRNA protein coding host genes" "363|1691" 1996-10-02 2005-07-20 2008-07-31 2017-12-15 7368 ENSG00000174607 OTTHUMG00000132915 uc003ibs.3 AK127970 NM_003360 CCDS3705 Q16880 8661025 MGI:109522 RGD:3938 601291 2.4.1.47 HGNC:12555 "ENST00000310836.11|NM_001128174.3" +HGNC:19683 UHMK1 U2AF homology motif kinase 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "KIS|Kist" U2AF homology motif (UHM) kinase 1 RNA binding motif containing 725 2004-12-09 2016-08-10 2016-10-05 127933 ENSG00000152332 OTTHUMG00000031373 uc001gcc.3 BC026046 NM_175866 "CCDS1239|CCDS53424|CCDS53423" Q8TAS1 "12093740|12782393" MGI:1341908 RGD:2968 608849 objectId:2270 HGNC:19683 "ENST00000489294.2|NM_175866.5" +HGNC:12556 UHRF1 ubiquitin like with PHD and ring finger domains 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "ICBP90|Np95|FLJ21925|RNF106|TDRD22" inverted CCAAT box binding protein 90 "Ring finger proteins|PHD finger proteins|Tudor domain containing|MicroRNA protein coding host genes" "58|88|780|1691" 2000-03-15 2016-03-02 2022-03-03 29128 ENSG00000276043 OTTHUMG00000180251 uc060rzz.1 AF129507 NM_001048201 "CCDS74263|CCDS74262" Q96T88 "10646863|28100769" MGI:1338889 RGD:1595855 607990 HGNC:12556 "ENST00000650932.1|NM_001048201.3" +HGNC:21216 UHRF1BP1 UHRF1 binding protein 1 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "FLJ20302|dJ349A12.1" C6orf107 chromosome 6 open reading frame 107 2003-11-25 2007-11-27 2008-08-15 2022-03-31 54887 ENSG00000065060 OTTHUMG00000014557 uc003oju.5 AB126777 NM_017754 CCDS43455 Q6BDS2 MGI:3041238 RGD:1307264 619570 HGNC:21216 "ENST00000192788.6|NM_017754.4" +HGNC:29102 UHRF1BP1L UHRF1 binding protein 1 like protein-coding gene gene with protein product Approved 12q23.1 12q23.1 "KIAA0701|SHIP164" 2007-11-27 2016-03-02 2022-03-31 23074 ENSG00000111647 OTTHUMG00000170195 uc001tgq.4 NM_001006947 "CCDS31883|CCDS31882" A0JNW5 20163565 MGI:2442888 RGD:1594520 619811 HGNC:29102 "ENST00000279907.12|NM_015054.2" +HGNC:55473 UHRF1BP1L-DT UHRF1BP1L divergent transcript non-coding RNA RNA, long non-coding Approved 12q23.1 12q23.1 Divergent transcripts 1990 2021-03-11 2021-03-11 120766146 ENSG00000257696 +HGNC:12557 UHRF2 ubiquitin like with PHD and ring finger domains 2 protein-coding gene gene with protein product Approved 9p24.1 09p24.1 "RNF107|NIRF|URF2|MGC33463|TDRD23" Np95-like ring finger protein ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase "Ring finger proteins|PHD finger proteins|Tudor domain containing" "58|88|780" 2000-03-15 2016-03-02 2017-03-17 115426 ENSG00000147854 OTTHUMG00000019521 uc003zjy.4 AF274049 NM_152306 CCDS6469 Q96PU4 "12176013|28115522" MGI:1923718 RGD:1309990 615211 HGNC:12557 "ENST00000276893.10|NM_152896.3" +HGNC:39565 UHRF2P1 ubiquitin like with PHD and ring finger domains 2 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 2011-03-09 2016-03-02 2016-03-02 260337 ENSG00000223650 OTTHUMG00000021844 NG_002342 PGOHUM00000258439 HGNC:39565 +HGNC:54869 UICLM up-regulated in colorectal cancer liver metastasis non-coding RNA RNA, long non-coding Approved 2q37.3 02q37.3 CROCC2-AS1 CROCC2 antisense RNA 1 Long non-coding RNAs with non-systematic symbols 1992 2020-04-01 2020-04-01 200772 ENSG00000233392 NR_033841 29187907 +HGNC:30298 UIMC1 ubiquitin interaction motif containing 1 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 RAP80 receptor associated protein 80 BRCA1 A complex 1328 2006-10-27 2020-03-09 51720 ENSG00000087206 OTTHUMG00000130852 uc063kao.1 AF349313 NM_016290 "CCDS4408|CCDS83050" Q96RL1 "12080054|19015238" MGI:103185 RGD:1307009 609433 HGNC:30298 "ENST00000511320.6|NM_001199298.2" HGNC:30298 +HGNC:14893 ULBP1 UL16 binding protein 1 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 RAET1I 2001-04-27 2016-10-05 80329 ENSG00000111981 OTTHUMG00000015810 uc003qnp.5 AF304377 NM_001317089 CCDS5223 Q9BZM6 "11239445|11827464" MGI:1925027 RGD:7509852 605697 HGNC:14893 "ENST00000229708.4|NM_025218.4" +HGNC:14894 ULBP2 UL16 binding protein 2 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 RAET1H 2001-04-27 2016-10-05 80328 ENSG00000131015 OTTHUMG00000015803 uc003qno.4 AF304378 NM_025217 CCDS5222 Q9BZM5 11239445 MGI:1925027 605698 HGNC:14894 "ENST00000367351.4|NM_025217.4" +HGNC:14895 ULBP3 UL16 binding protein 3 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 RAET1N 2001-04-27 2016-10-05 79465 ENSG00000131019 OTTHUMG00000015811 uc063sfx.1 AF304379 NM_024518 CCDS5225 Q9BZM4 "11239445|11827464" MGI:3588256 605699 HGNC:14895 "ENST00000367339.7|NM_024518.3" +HGNC:12558 ULK1 unc-51 like autophagy activating kinase 1 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "ATG1|ATG1A" ATG1 autophagy related 1 homolog (S. cerevisiae) "unc-51 (C. elegans)-like kinase 1|unc-51-like kinase 1 (C. elegans)" Autophagy related 1022 1998-09-03 2013-07-02 2016-10-05 8408 ENSG00000177169 OTTHUMG00000168052 uc001uje.4 AF045458 NM_003565 CCDS9274 O75385 9693035 MGI:1270126 RGD:1589743 603168 objectId:2271 HGNC:12558 "ENST00000321867.6|NM_003565.4" +HGNC:13480 ULK2 unc-51 like autophagy activating kinase 2 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "KIAA0623|Unc51.2|ATG1B" "unc-51 (C. elegans)-like kinase 2|unc-51-like kinase 2 (C. elegans)" Autophagy related 1022 2001-11-23 2013-07-02 2014-11-18 9706 ENSG00000083290 OTTHUMG00000059511 uc002gwm.5 AB014523 NM_014683 CCDS11213 Q8IYT8 10557072 MGI:1352758 RGD:1310181 608650 objectId:2272 2.7.11.1 HGNC:13480 "ENST00000395544.9|NM_014683.4" +HGNC:19703 ULK3 unc-51 like kinase 3 protein-coding gene gene with protein product Approved 15q24.1 15q24.1 "DKFZP434C131|FLJ90566" unc-51-like kinase 3 (C. elegans) MicroRNA protein coding host genes 1691 2005-01-19 2013-07-02 2020-04-01 25989 ENSG00000140474 OTTHUMG00000173020 uc059llp.1 BC048289 NM_015518 "CCDS45305|CCDS76779" Q6PHR2 MGI:1918992 RGD:1587417 613472 objectId:2273 HGNC:19703 "ENST00000440863.7|NM_001099436.4" +HGNC:15784 ULK4 unc-51 like kinase 4 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "FLJ20574|REC01035|FAM7C1" unc-51-like kinase 4 (C. elegans) Armadillo like helical domain containing 1492 2005-01-19 2013-07-02 2019-03-20 54986 ENSG00000168038 OTTHUMG00000156210 uc003ckv.5 AK000581 NM_017886 CCDS43071 Q96C45 27569546 MGI:1921622 RGD:1565726 617010 objectId:2274 HGNC:15784 "ENST00000301831.9|NM_017886.4" HGNC:15784 +HGNC:15775 ULK4P1 ULK4 pseudogene 1 pseudogene pseudogene Approved 15q13.3 15q13.3 D-X FAM7A1 "family with sequence similarity 7, member A1|family with sequence similarity 7, member A1 (non-protein coding)|unc-51-like kinase 4 (C. elegans) pseudogene 1" 2001-06-29 2011-11-25 2013-09-12 2014-11-19 89838 ENSG00000261279 OTTHUMG00000162940 BC070492 XR_041690 11829490 PGOHUM00000246727 HGNC:15775 +HGNC:15776 ULK4P2 ULK4 pseudogene 2 pseudogene pseudogene Approved 15q13.2 15q13.2 D-X FAM7A2 "family with sequence similarity 7, member A2|unc-51-like kinase 4 (C. elegans) pseudogene 2" 2001-06-29 2011-11-25 2013-09-12 2020-04-20 100288380 ENSG00000260128 OTTHUMG00000175653 NR_027470 11829490 PGOHUM00000262914 HGNC:15776 +HGNC:15777 ULK4P3 ULK4 pseudogene 3 pseudogene pseudogene Approved 15q13.2 15q13.2 D-X FAM7A3 "family with sequence similarity 7, member A3|unc-51-like kinase 4 (C. elegans) pseudogene 3" 2001-06-29 2011-11-25 2013-09-12 2014-03-20 89837 ENSG00000178081 OTTHUMG00000175637 BC023564 NR_026859 11829490 PGOHUM00000247040 HGNC:15777 +HGNC:48955 UMAD1 UBAP1-MVB12-associated (UMA) domain containing 1 protein-coding gene gene with protein product Approved 7p21.3 07p21.3 "RPA3-AS1|RPA3OS" "RPA3 antisense RNA 1|RPA3 opposite strand" 2013-07-23 2014-10-10 2014-10-10 2014-10-15 729852 ENSG00000219545 OTTHUMG00000152007 AK027125 NM_001302348 CCDS83158 C9J7I0 20448139 MGI:3840148 HGNC:48955 "ENST00000682710.1|NM_001302348.2" +HGNC:51824 UMLILO upstream master lncRNA of the inflammatory chemokine locus non-coding RNA RNA, long non-coding Approved 4q13.3 04q13.3 Long non-coding RNAs with non-systematic symbols 1992 2018-12-11 2018-12-12 114515515 ENSG00000228277 OTTHUMG00000151319 30531872 +HGNC:12559 UMOD uromodulin protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "Tamm-Horsfall glycoprotein|uromucoid" uromodulin (uromucoid, Tamm-Horsfall glycoprotein) 1992-07-27 2008-06-23 2021-05-26 7369 ENSG00000169344 OTTHUMG00000131488 uc059rpt.1 M17778 NM_001008389 "CCDS10583|CCDS61876" P07911 8382593 MGI:102674 RGD:3940 191845 120412 HGNC:12559 "ENST00000396138.9|NM_003361.4" HGNC:12559 +HGNC:12560 UMODL1 uromodulin like 1 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 olfactorin 2000-05-17 2015-11-23 2015-11-23 89766 ENSG00000177398 OTTHUMG00000086788 uc002zag.1 NM_001004416 "CCDS56215|CCDS42935|CCDS42936|CCDS56214" Q5DID0 16026467 MGI:1929785 RGD:1566039 613859 471294 HGNC:12560 "ENST00000408910.7|NM_001004416.3" +HGNC:23821 UMODL1-AS1 UMODL1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 FLJ33471 C21orf128 chromosome 21 open reading frame 128 Antisense RNAs 1987 2003-12-15 2014-10-01 2014-10-01 2014-10-01 150147 ENSG00000184385 OTTHUMG00000086790 NR_027243 Q8N2C9 UMODL1-AS1 HGNC:23821 +HGNC:12563 UMPS uridine monophosphate synthetase protein-coding gene gene with protein product Approved 3q21.2 03q21.2 orotate phosphoribosyl transferase and orotidine-5'-decarboxylase MicroRNA protein coding host genes 1691 1986-01-01 2008-02-04 2016-10-05 7372 ENSG00000114491 OTTHUMG00000159431 uc003ehl.5 NM_000373 CCDS3029 P11172 2767686 MGI:1298388 RGD:1311908 613891 120414 "2.4.2.10|4.1.1.23" HGNC:12563 "ENST00000232607.7|NM_000373.4" HGNC:12563 +HGNC:12567 UNC5A unc-5 netrin receptor A protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "KIAA1976|UNC5H1" "unc5 (C.elegans homolog) a|unc-5 homolog A (C. elegans)" "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 1998-12-09 2015-06-19 2018-11-22 90249 ENSG00000113763 OTTHUMG00000163225 uc003mey.4 AB075856 NM_133369 CCDS34299 Q6ZN44 "12655055|20372800" MGI:894682 RGD:621755 607869 HGNC:12567 "ENST00000329542.9|NM_133369.3" +HGNC:12568 UNC5B unc-5 netrin receptor B protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "UNC5H2|p53RDL1" "unc5 (C.elegans homolog) b|unc-5 homolog B (C. elegans)" "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 1998-12-09 2015-06-19 2016-10-05 219699 ENSG00000107731 OTTHUMG00000018422 uc001jro.4 AB096256 NM_170744 "CCDS7309|CCDS58083" Q8IZJ1 "12655055|20693423" MGI:894703 RGD:621756 607870 HGNC:12568 "ENST00000335350.10|NM_170744.5" +HGNC:45096 UNC5B-AS1 UNC5B antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.1 10q22.1 UASR1 Antisense RNAs 1987 2013-02-14 2019-06-19 728978 ENSG00000237512 OTTHUMG00000018423 uc021psk.1 NR_038453 "30805847|31205563" UNC5B-AS1 HGNC:45096 +HGNC:12569 UNC5C unc-5 netrin receptor C protein-coding gene gene with protein product Approved 4q22.3 04q22.3 "unc5 (C.elegans homolog) c|unc-5 homolog C (C. elegans)" I-set domain containing 593 1998-12-09 2015-06-19 2016-10-05 8633 ENSG00000182168 OTTHUMG00000130989 uc003hto.4 AF055634 NM_003728 CCDS3643 O95185 "9126742|9782087|12655055" MGI:1095412 RGD:735109 603610 HGNC:12569 "ENST00000453304.6|NM_003728.4" +HGNC:55246 UNC5C-AS1 UNC5C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q22.3 04q22.3 Antisense RNAs 1987 2020-09-17 2020-09-17 105377335 ENSG00000271474 XR_939004 +HGNC:21203 UNC5CL unc-5 family C-terminal like protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "MGC34763|ZUD" ZU5 and death domain containing unc-5 homolog C (C. elegans)-like 2003-05-28 2015-06-19 2015-06-19 222643 ENSG00000124602 OTTHUMG00000014665 uc003opi.4 BC035284 NM_173561 CCDS4847 Q8IV45 14769797 MGI:1923839 RGD:1587368 617464 HGNC:21203 "ENST00000244565.8|NM_173561.3" +HGNC:18634 UNC5D unc-5 netrin receptor D protein-coding gene gene with protein product Approved 8p12 08p12 "KIAA1777|Unc5h4" "Netrin receptor UNC5D|Protein unc-5 homolog 4|Protein unc-5 homolog D" unc-5 homolog D (C. elegans) "I-set domain containing|Ig-like cell adhesion molecule family" "593|1410" 2002-05-13 2015-06-19 2016-12-16 137970 ENSG00000156687 OTTHUMG00000157145 uc003xjr.3 AB055056 NM_001322818 "CCDS83279|CCDS6093" Q6UXZ4 18402767 MGI:2389364 RGD:1309245 616466 HGNC:18634 "ENST00000404895.7|NM_080872.4" +HGNC:23150 UNC13A unc-13 homolog A protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KIAA1032|Munc13-1" unc-13 homolog A (C. elegans) UNC13 homologs 836 2003-10-16 2016-06-24 2021-05-26 23025 ENSG00000130477 OTTHUMG00000163877 uc060vkq.1 AB028955 NM_001080421 CCDS46013 Q9UPW8 MGI:3051532 RGD:619722 609894 406692 HGNC:23150 "ENST00000519716.7|NM_001080421.3" +HGNC:12566 UNC13B unc-13 homolog B protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "hmunc13|Unc13h2|Munc13-2" UNC13 "unc-13-like (C. elegans)|unc-13 homolog B (C. elegans)" UNC13 homologs 836 1998-10-30 2003-10-17 2016-06-24 2019-06-17 10497 ENSG00000198722 OTTHUMG00000019856 uc003zwq.4 AF020202 NM_006377 "CCDS6579|CCDS83361" O14795 9607201 MGI:1342278 RGD:619723 605836 HGNC:12566 "ENST00000635942.2|NM_001371189.2" +HGNC:23149 UNC13C unc-13 homolog C protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "Munc13-3|DKFZp547H074" unc-13 homolog C (C. elegans) UNC13 homologs 836 2003-10-16 2016-06-24 2020-04-20 440279 ENSG00000137766 OTTHUMG00000172542 uc059jkr.1 AK091491 NM_173166 CCDS45264 Q8NB66 MGI:2149021 RGD:628592 614568 HGNC:23149 "ENST00000260323.16|NM_001080534.3" +HGNC:23147 UNC13D unc-13 homolog D protein-coding gene gene with protein product Approved 17q25.3 17q25.3 Munc13-4 unc-13 homolog D (C. elegans) UNC13 homologs 836 2003-10-16 2016-04-05 2021-05-26 201294 ENSG00000092929 OTTHUMG00000179895 uc002jpp.5 AK024474 NM_199242 CCDS11730 Q70J99 MGI:1917700 RGD:628593 "UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3|http://structure.bmc.lu.se/idbase/UNC13Dbase/|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=UNC13D|LRG_122|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_122.xml" 608897 120416 HGNC:23147 "ENST00000207549.9|NM_199242.3" HGNC:23147 +HGNC:30594 UNC45A unc-45 myosin chaperone A protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "SMAP-1|GC-UNC45" smooth muscle cell associated protein-1 unc-45 homolog A (C. elegans) Armadillo like helical domain containing 1492 2005-11-17 2015-06-19 2015-06-19 55898 ENSG00000140553 OTTHUMG00000141261 uc002bqg.4 NM_018671 "CCDS42082|CCDS10367" Q9H3U1 "25444911|25487020" MGI:2142246 RGD:1305357 611219 HGNC:30594 "ENST00000418476.2|NM_018671.5" +HGNC:14304 UNC45B unc-45 myosin chaperone B protein-coding gene gene with protein product Approved 17q12 17q12 UNC45 CMYA4 "cardiomyopathy associated 4|unc-45 homolog B (C. elegans)" Armadillo like helical domain containing 1492 2002-04-03 2005-11-17 2015-06-19 2021-05-26 146862 ENSG00000141161 OTTHUMG00000132931 uc002hja.3 AW755253 NM_173167 "CCDS45648|CCDS76993|CCDS11292" Q8IWX7 "24549050|25487020" MGI:2443377 RGD:1305666 611220 405637 HGNC:14304 "ENST00000394570.7|NM_001267052.2" HGNC:14304 +HGNC:16046 UNC50 unc-50 inner nuclear membrane RNA binding protein protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "URP|UNCL|GMH1" unc-50 homolog (C. elegans) 2004-01-21 2016-04-29 2021-05-26 25972 ENSG00000115446 OTTHUMG00000130562 uc002szc.5 NM_014044 "CCDS2035|CCDS82485" Q53HI1 10980252 MGI:1914637 RGD:621749 617826 HGNC:16046 "ENST00000357765.7|NM_014044.7" +HGNC:19966 UNC79 unc-79 homolog, NALCN channel complex subunit protein-coding gene gene with protein product Approved 14q32.12 14q32.12 KIAA1409 "KIAA1409|unc-79 homolog (C. elegans)" Armadillo like helical domain containing 1492 2003-11-21 2011-08-18 2017-05-23 2018-11-22 57578 ENSG00000133958 OTTHUMG00000029783 uc001ybs.2 AB037830 NM_020818 CCDS9911 Q9P2D8 "20714347|21040849" MGI:2684729 RGD:1311117 616884 HGNC:19966 +HGNC:26582 UNC80 unc-80 homolog, NALCN channel complex subunit protein-coding gene gene with protein product Approved 2q34 02q34 "FLJ33496|KIAA1843|UNC-80" C2orf21 "chromosome 2 open reading frame 21|unc-80 homolog (C. elegans)" 2004-01-20 2009-08-17 2017-05-23 2021-05-26 285175 ENSG00000144406 OTTHUMG00000132963 uc021vvx.2 AK090815 NM_182587 "CCDS46504|CCDS2387" Q8N2C7 "19092807|19535918|26708753" MGI:2652882 RGD:1309976 612636 463796 HGNC:26582 "ENST00000673920.1|NM_001371986.1" HGNC:26582 +HGNC:12570 UNC93A unc-93 homolog A protein-coding gene gene with protein product Approved 6q27 06q27 "dJ366N23.2|dJ366N23.1" "unc93 (C.elegans) homolog A|unc-93 homolog A (C. elegans)" 2000-06-15 2017-08-04 2017-08-04 54346 ENSG00000112494 OTTHUMG00000016021 uc003qvq.4 AJ508812 NM_018974 "CCDS47515|CCDS5300" Q86WB7 12381271 MGI:3712668 RGD:1583290 607995 HGNC:12570 "ENST00000230256.8|NM_018974.4" +HGNC:13481 UNC93B1 unc-93 homolog B1, TLR signaling regulator protein-coding gene gene with protein product Approved 11q13.2 11q13.2 UNC93 "unc93 (C. elegans) homolog B1|unc-93 homolog B1 (C. elegans)" 2002-01-22 2017-08-04 2021-04-13 81622 ENSG00000110057 OTTHUMG00000167472 uc031xth.1 AJ271326 NM_030930 CCDS73334 Q9H1C4 11867227 MGI:1859307 RGD:1311984 "UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)|http://structure.bmc.lu.se/idbase/UNC93B1base/|LRG_123|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_123.xml" 608204 120419 HGNC:13481 "ENST00000227471.7|NM_030930.4" +HGNC:13482 UNC93B2 unc-93 homolog B2 (pseudogene) pseudogene pseudogene Approved 7p22.1 07p22.1 UNC93B2P "unc-93 homolog B2 pseudogene (C. elegans)|unc-93 homolog B2, pseudogene" 2008-02-28 2020-02-11 2020-02-11 641922 ENSG00000155070 OTTHUMG00000151911 NG_013106 11867227 HGNC:13482 +HGNC:13483 UNC93B3 unc-93 homolog B3 (pseudogene) pseudogene pseudogene Approved 3p12.3 03p12.3 UNC93B3P "unc-93 homolog B3 pseudogene (C. elegans)|unc-93 homolog B3, pseudogene" 2008-02-28 2020-02-11 2020-02-11 285296 ENSG00000172971 OTTHUMG00000158960 XR_016294 11867227 PGOHUM00000250288 HGNC:13483 +HGNC:13484 UNC93B4 unc-93 homolog B4 (pseudogene) pseudogene pseudogene Approved 4p16.3 04p16.3 "unc-93 homolog B4 pseudogene (C. elegans)|unc-93 homolog B4, pseudogene" 2008-02-28 2020-02-11 2020-02-11 643384 ENSG00000250381 OTTHUMG00000159866 XR_016363 11867227 PGOHUM00000245440 HGNC:13484 +HGNC:34051 UNC93B5 unc-93 homolog B5 (pseudogene) pseudogene pseudogene Approved 11q13.2 11q13.2 "unc-93 homolog B5 (C. elegans)|unc-93 homolog B5 pseudogene (C. elegans)|unc-93 homolog B5, pseudogene" 2008-04-03 2020-02-11 2020-02-11 729196 ENSG00000184795 OTTHUMG00000167244 NG_028989 PGOHUM00000258569 HGNC:34051 +HGNC:34053 UNC93B6 unc-93 homolog B6 (pseudogene) pseudogene pseudogene Approved 11q13.4 11q13.4 "unc-93 homolog B6 (C. elegans)|unc-93 homolog B6 pseudogene (C. elegans)|unc-93 homolog B6, pseudogene" 2008-04-03 2020-02-11 2020-02-11 255620 ENSG00000255562 OTTHUMG00000167455 NG_009705.1 HGNC:34053 +HGNC:44036 UNC93B7 unc-93 homolog B7 (pseudogene) pseudogene pseudogene Approved 4p16.1 04p16.1 "unc-93 homolog B7 pseudogene (C. elegans)|unc-93 homolog B7, pseudogene" 2012-05-29 2020-02-11 2020-02-11 100887746 ENSG00000251624 OTTHUMG00000160194 NG_032765 PGOHUM00000259931 HGNC:44036 +HGNC:44037 UNC93B8 unc-93 homolog B8 (pseudogene) pseudogene pseudogene Approved 4p16.1 04p16.1 "unc-93 homolog B8 pseudogene (C. elegans)|unc-93 homolog B8, pseudogene" 2012-05-29 2020-02-11 2020-02-11 100887748 ENSG00000249272 OTTHUMG00000160098 NG_032767 PGOHUM00000245821 HGNC:44037 +HGNC:12565 UNC119 unc-119 lipid binding chaperone protein-coding gene gene with protein product Approved 17q11.2 17q11.2 "HRG4|POC7|POC7A" POC7 centriolar protein homolog A (Chlamydomonas) "unc119 (C.elegans) homolog|unc-119 homolog (C. elegans)" 1999-01-29 2015-06-19 2021-05-26 9094 ENSG00000109103 OTTHUMG00000132606 uc002hbk.3 U40998 NM_001330166 "CCDS82094|CCDS11233|CCDS11234" Q13432 "8576185|9538874" MGI:1328357 RGD:3942 "Mutations of HRG4|http://www.retina-international.org/files/sci-news/hrg4mut.htm|LRG_341|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_341.xml" 604011 227401 objectId:3011 HGNC:12565 "ENST00000335765.9|NM_005148.4" HGNC:12565 +HGNC:16488 UNC119B unc-119 lipid binding chaperone B protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "MGC5139|POC7B" POC7 centriolar protein homolog B (Chlamydomonas) "unc119 (C.elegans) homolog B|unc-119 homolog B (C. elegans)" MicroRNA protein coding host genes 1691 2001-09-06 2015-06-19 2016-10-05 84747 ENSG00000175970 OTTHUMG00000169201 uc001tyz.4 NM_001080533 CCDS31914 A6NIH7 23000199 MGI:2147162 RGD:1309359 HGNC:16488 "ENST00000344651.5|NM_001080533.3" +HGNC:33194 UNCX UNC homeobox protein-coding gene gene with protein product Approved 7p22.3 07p22.3 Uncx4.1 PRD class homeoboxes and pseudogenes 521 2007-08-09 2014-11-19 340260 ENSG00000164853 OTTHUMG00000152022 uc011jvw.3 NM_001080461 CCDS34583 A6NJT0 MGI:108013 RGD:69361 8617 HGNC:33194 "ENST00000316333.9|NM_001080461.3" +HGNC:12572 UNG uracil DNA glycosylase protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "UDG|UNG1|UNG2|HIGM4" uracil-DNA glycosylase 1, uracil-DNA glycosylase 2 DGU DNA glycosylases 1024 1990-02-22 2015-06-23 2021-04-13 7374 ENSG00000076248 OTTHUMG00000169247 uc001tnz.3 A64377 NM_080911 "CCDS9125|CCDS9124" P13051 "1923798|17101234" MGI:109352 RGD:1307200 "UNGbase: Mutation registry for UNG deficiency (Hyper-IgM syndrome, type 5)|http://structure.bmc.lu.se/idbase/UNGbase/|LRG_124|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_124.xml" 191525 120421 3.2.2.27 HGNC:12572 "ENST00000242576.7|NM_080911.3" +HGNC:18579 UNGP1 uracil-DNA glycosylase pseudogene 1 pseudogene pseudogene Approved 16q12.1 16q12.1 2002-04-26 2017-10-25 57004 ENSG00000260818 OTTHUMG00000176689 X92985 NG_001287 8694824 PGOHUM00000293862 HGNC:18579 +HGNC:18580 UNGP2 uracil-DNA glycosylase pseudogene 2 pseudogene pseudogene Approved 14q12-q21 14q12-q21 2002-04-26 2008-05-14 57005 X92986 NG_001288 8694824 HGNC:18580 +HGNC:20036 UNGP3 uracil-DNA glycosylase pseudogene 3 pseudogene pseudogene Approved 14q31.1 14q31.1 2003-01-13 2014-11-19 319122 ENSG00000270343 OTTHUMG00000184395 NG_002503 PGOHUM00000247873 HGNC:20036 +HGNC:29369 UNK unk zinc finger protein-coding gene gene with protein product Approved 17q25.1 17q25.1 KIAA1753 "ZC3HDC5|ZC3H5" "zinc finger CCCH-type domain containing 5|zinc finger CCCH-type containing 5|unkempt homolog (Drosophila)|unk family zinc finger" Zinc fingers CCCH-type 73 2004-02-27 2007-02-06 2018-11-09 2020-04-01 85451 ENSG00000132478 OTTHUMG00000179892 uc021udd.3 AB051540 NM_001080419 CCDS45778 Q9C0B0 26641712 MGI:2442456 RGD:1309224 616375 HGNC:29369 "ENST00000589666.6|NM_001080419.3" +HGNC:14184 UNKL unk like zinc finger protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ZC3HDC5L|ZC3H5L|FLJ23360" C16orf28 "chromosome 16 open reading frame 28|unkempt homolog (Drosophila)-like|unkempt family like zinc finger" "Ring finger proteins|Zinc fingers CCCH-type" "58|73" 2000-12-21 2018-11-09 2018-11-09 64718 ENSG00000059145 OTTHUMG00000128553 uc059owu.1 BC011924 NM_001037125 "CCDS61787|CCDS32359|CCDS53980" Q9H9P5 20148946 MGI:1921404 RGD:1565247 617463 HGNC:14184 "ENST00000389221.9|NM_001372107.1" HGNC:14184 +HGNC:12575 UOX urate oxidase (pseudogene) pseudogene pseudogene Approved 1p31.1 01p31.1 UOXP urate oxidase 1991-06-06 2016-01-06 2020-08-14 391051 ENSG00000240520 OTTHUMG00000009861 AB074093 NR_003927 "1395718|1556746" MGI:98907 191540 HGNC:12575 +HGNC:16297 UPB1 beta-ureidopropionase 1 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 BUP1 ureidopropionase, beta 2001-10-03 2016-05-16 2016-10-05 51733 ENSG00000100024 OTTHUMG00000150749 uc003aaf.4 AB013885 NM_016327 CCDS13827 Q9UBR1 10542323 MGI:2143535 RGD:620091 606673 120426 HGNC:16297 "ENST00000326010.10|NM_016327.3" HGNC:16297 +HGNC:9962 UPF1 UPF1 RNA helicase and ATPase protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "HUPF1|KIAA0221|NORF1|pNORF1|smg-2" "UP Frameshift 1|smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)" RENT1 "regulator of nonsense transcripts 1|UPF1 regulator of nonsense transcripts homolog (yeast)|UPF1, RNA helicase and ATPase" "UPF1 like RNA helicases|SURF complex|DECID complex" "1169|1963|1964" 1997-02-11 2006-02-07 2019-01-25 2019-01-25 5976 ENSG00000005007 OTTHUMG00000183025 uc002nkf.4 AF074016 NM_002911 "CCDS12386|CCDS74315" Q92900 "8855285|9064659" MGI:107995 RGD:1589127 601430 HGNC:9962 "ENST00000262803.10|NM_002911.4" +HGNC:17854 UPF2 UPF2 regulator of nonsense mediated mRNA decay protein-coding gene gene with protein product Approved 10p14 10p14 "RENT2|DKFZP434D222|KIAA1408|smg-3" smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans) "UPF2 regulator of nonsense transcripts homolog (yeast)|UPF2, regulator of nonsense mediated mRNA decay" "DECID complex|MIF4G domain containing proteins" "1964|2128" 2003-02-07 2019-01-25 2019-01-25 26019 ENSG00000151461 OTTHUMG00000017678 uc001ilc.4 AB037829 NM_015542 CCDS7086 Q9HAU5 "11073994|11113196" MGI:2449307 RGD:1309178 605529 HGNC:17854 "ENST00000357604.10|NM_015542.4" +HGNC:20332 UPF3A UPF3A regulator of nonsense mediated mRNA decay protein-coding gene gene with protein product Approved 13q34 13q34 "RENT3A|UPF3|HUPF3A" "UPF3 regulator of nonsense transcripts homolog A (yeast)|UPF3A, regulator of nonsense mediated mRNA decay" 2003-02-07 2019-01-25 2019-01-25 65110 ENSG00000169062 OTTHUMG00000017403 uc001vup.4 AF318575 NM_001353644 "CCDS9544|CCDS9543" Q9H1J1 "11113196|11163187" MGI:1914281 RGD:1308778 605530 HGNC:20332 "ENST00000375299.8|NM_023011.4" +HGNC:30568 UPF3AP1 UPF3A pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 1 2010-04-30 2013-09-13 2015-03-06 147226 ENSG00000226478 OTTHUMG00000059169 NG_001548 11997339 PGOHUM00000293968 HGNC:30568 +HGNC:30567 UPF3AP2 UPF3A pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2 2010-04-30 2013-09-13 2015-03-06 147150 ENSG00000214832 OTTHUMG00000059514 NG_001546 11997339 PGOHUM00000293986 HGNC:30567 +HGNC:38395 UPF3AP3 UPF3A pseudogene 3 pseudogene pseudogene Approved 9q31.1 09q31.1 UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 3 2010-04-30 2013-09-13 2015-03-06 100422343 ENSG00000234709 OTTHUMG00000020360 NG_021629 PGOHUM00000304006 HGNC:38395 +HGNC:20439 UPF3B UPF3B regulator of nonsense mediated mRNA decay protein-coding gene gene with protein product Approved Xq24 Xq24 "RENT3B|UPF3X|HUPF3B|MRX82" "MRX62|UPF3BP1|UPF3BP2|UPF3BP3" "mental retardation, X-linked 62|UPF3B pseudogene 1|UPF3B pseudogene 2|UPF3B pseudogene 3|UPF3 regulator of nonsense transcripts homolog B (yeast)|UPF3B, regulator of nonsense mediated mRNA decay" DECID complex 1964 2003-02-07 2019-01-25 2021-05-26 65109 ENSG00000125351 OTTHUMG00000022282 uc004erz.3 AF318576 NM_080632 "CCDS14587|CCDS14588" Q9BZI7 "11113196|11163187|19238151" MGI:1915384 RGD:1560264 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UPF3B 300298 159373 HGNC:20439 "ENST00000276201.7|NM_080632.3" HGNC:20439 +HGNC:12577 UPK1A uroplakin 1A protein-coding gene gene with protein product Approved 19q13.12 19q13.12 TSPAN21 Tetraspanins 768 1999-08-26 2016-10-05 11045 ENSG00000105668 OTTHUMG00000048115 uc002oaw.5 AF085807 NM_001281443 "CCDS62640|CCDS12470" O00322 "9846985|10404304" MGI:98911 RGD:1309849 611557 HGNC:12577 +HGNC:40603 UPK1A-AS1 UPK1A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 UPK1A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2021-08-02 100862728 ENSG00000226510 OTTHUMG00000048113 uc002oax.2 BC007817 NR_046420 UPK1A-AS1 HGNC:40603 +HGNC:12578 UPK1B uroplakin 1B protein-coding gene gene with protein product Approved 3q13.32 03q13.32 TSPAN20 UPK1 Tetraspanins 768 1992-07-31 2015-08-26 7348 ENSG00000114638 OTTHUMG00000159354 uc003ecc.4 AF082888 NM_006952 CCDS2985 O75841 "9935153|9846985" MGI:98912 RGD:1307806 602380 HGNC:12578 "ENST00000264234.8|NM_006952.4" +HGNC:12579 UPK2 uroplakin 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "UP2|UPII|MGC138598" "uroplakin II|uroplakin-2" 1992-07-31 2020-04-01 7379 ENSG00000110375 OTTHUMG00000166346 uc001puh.4 Y13645 NM_006760 CCDS8404 O00526 "9515818|9846985" MGI:98913 RGD:1597393 611558 HGNC:12579 "ENST00000264031.3|NM_006760.4" +HGNC:12580 UPK3A uroplakin 3A protein-coding gene gene with protein product Approved 22q13.31 22q13.31 UPK3 uroplakin 3 1992-07-31 2003-07-30 2003-07-29 2014-11-18 7380 ENSG00000100373 OTTHUMG00000151339 uc003bfy.4 AB010637 NM_006953 "CCDS54539|CCDS14064" O75631 9818021 MGI:98914 RGD:1310633 611559 268073 HGNC:12580 "ENST00000216211.9|NM_006953.4" HGNC:12580 +HGNC:21444 UPK3B uroplakin 3B protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "MGC10902|p35|UPIIIb|FLJ32198" uroplakin IIIb 2003-07-29 2020-04-20 105375355 ENSG00000243566 OTTHUMG00000149929 uc064eqa.1 BC004304 NM_030570 CCDS87512 Q9BT76 12446744 MGI:2140882 RGD:1309615 611887 HGNC:21444 "ENST00000334348.8|NM_001347684.2" +HGNC:37278 UPK3BL1 uroplakin 3B like 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 UPLP uroplakin-like protein UPK3BL uroplakin 3B like 2010-03-03 2017-04-13 2017-04-13 2017-04-13 100134938 ENSG00000267368 OTTHUMG00000165036 uc010lij.3 EU341824 NM_001114403 CCDS47675 B0FP48 MGI:1916915 RGD:1598237 HGNC:37278 "ENST00000340457.8|NM_001114403.3" +HGNC:53444 UPK3BL2 uroplakin 3B like 2 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 2017-04-13 2019-08-13 107983993 ENSG00000284981 NM_001363506 CCDS87532 E5RIL1 MGI:1916915 HGNC:53444 +HGNC:55757 UPK3BL3P uroplakin 3B like 3, pseudogene pseudogene pseudogene Approved 7p13 07p13 2021-07-21 2021-07-21 122149306 ENSG00000239556 PGOHUM00000302114 +HGNC:42353 UPK3BP1 uroplakin 3B pseudogene 1 pseudogene pseudogene Approved 7q11.23 07q11.23 2011-06-29 2011-07-04 107080637 ENSG00000242435 OTTHUMG00000155728 NG_046687 PGOHUM00000250954 HGNC:42353 +HGNC:12576 UPP1 uridine phosphorylase 1 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 "UPASE|UPP|UDRPASE" UP uridine phosphorylase 2001-06-22 2003-08-29 2003-08-28 2014-11-19 7378 ENSG00000183696 OTTHUMG00000129253 uc003tok.5 AK096167 NM_003364 CCDS5507 Q16831 "752472|11807789" MGI:1097668 RGD:1305566 191730 2.4.2.3 HGNC:12576 "ENST00000395564.9|NM_003364.4" +HGNC:23061 UPP2 uridine phosphorylase 2 protein-coding gene gene with protein product Approved 2q24.1 02q24.1 "UPASE2|UP2|UDRPASE2" 2003-09-01 2016-10-05 151531 ENSG00000007001 OTTHUMG00000131969 uc002tzp.4 AY225131 NM_173355 "CCDS46435|CCDS2207" O95045 12849978 MGI:1923904 RGD:1308188 617340 2.4.2.3 HGNC:23061 "ENST00000005756.5|NM_173355.4" +HGNC:41467 UPP2-IT1 UPP2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q24.1 02q24.1 UPP2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874283 ENSG00000237327 OTTHUMG00000153915 uc061ouf.1 UPP2-IT1 +HGNC:28334 UPRT uracil phosphoribosyltransferase homolog protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "DKFZp781E1243|MGC23937|FUR1|RP11-311P8.3" uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 2006-12-07 2015-11-18 2020-04-02 139596 ENSG00000094841 OTTHUMG00000021864 uc004ecb.3 BC015116 NM_145052 "CCDS78494|CCDS14429|CCDS87767" Q96BW1 26271729 MGI:2685620 RGD:1564806 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/UPRT 300656 HGNC:28334 "ENST00000373383.9|NM_145052.4" +HGNC:15891 UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 "FLJ10850|CBP3|BFZB" "Basic FGF-repressed Zic-binding protein|cytochrome B protein synthesis 3 homolog (S. cerevisiae)" "C20orf44|UQCC" "chromosome 20 open reading frame 44|ubiquinol-cytochrome c reductase complex chaperone" Mitochondrial respiratory chain complex assembly factors 645 2001-06-21 2013-09-20 2013-09-20 2020-01-02 55245 ENSG00000101019 OTTHUMG00000032335 AK001712 NM_018244 "CCDS13253|CCDS13252|CCDS54458" Q9NVA1 24385928 MGI:1929472 RGD:1585681 611797 HGNC:15891 "ENST00000374385.10|NM_018244.5" +HGNC:21237 UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "MGC14833|bA6B20.2|M19|Cbp6" cytochrome B protein synthesis 6 homolog (S. cerevisiae) "C6orf125|MNF1" "chromosome 6 open reading frame 125|mitochondrial nucleoid factor 1" Mitochondrial respiratory chain complex assembly factors 645 2003-05-29 2013-09-20 2013-09-20 2021-05-26 84300 ENSG00000137288 OTTHUMG00000014534 NM_032340 CCDS4784 Q9BRT2 19643811 MGI:1914517 RGD:1306917 614461 394920 HGNC:21237 "ENST00000607484.6|NM_032340.4" HGNC:21237 +HGNC:34399 UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 UNQ655 C11orf83 chromosome 11 open reading frame 83 Mitochondrial respiratory chain complex assembly factors 645 2008-07-18 2014-07-24 2014-07-24 2016-11-16 790955 ENSG00000204922 OTTHUMG00000167546 "AY358935|BC090057" NM_001085372 CCDS41658 Q6UW78 "12975309|25008109|25605331" MGI:2147553 RGD:1597344 616097 414565 HGNC:34399 "ENST00000377953.4|NM_001085372.3" HGNC:34399 +HGNC:30863 UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X protein-coding gene gene with protein product Approved 22q12.2 22q12.2 "HSPC051|UCRC|QCR9|UCCR7.2" "ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa|complex III subunit 9" Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 2010-01-26 2014-11-19 29796 ENSG00000184076 OTTHUMG00000151283 uc003agq.1 AB028598 NM_013387 "CCDS46680|CCDS46681" Q9UDW1 11042152 MGI:1913402 RGD:1595126 610843 471296 HGNC:30863 "ENST00000330029.6|NM_013387.4" +HGNC:54960 UQCR10P1 UQCR10 pseudogene 1 pseudogene pseudogene Approved Xp11.22 Xp11.22 2020-05-07 2020-05-07 644310 ENSG00000237528 NG_027713 +HGNC:30862 UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI protein-coding gene gene with protein product Approved 19p13.3 19p13.3 QCR10 complex III subunit 10 UQCR ubiquinol-cytochrome c reductase, 6.4kDa subunit Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 2005-01-10 2010-01-26 2010-01-26 2014-11-18 10975 ENSG00000127540 OTTHUMG00000180084 uc002ltm.4 D55636 NM_006830 CCDS12073 O14957 9161705 MGI:1913844 RGD:1590985 609711 471298 HGNC:30862 "ENST00000591899.8|NM_006830.4" +HGNC:12582 UQCRB ubiquinol-cytochrome c reductase binding protein protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "QP-C|QCR7|UQCR6" "ubiquinol-cytochrome c reductase, complex III subunit VI|cytochrome b-c1 complex subunit 7" UQBP Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 1991-08-20 2021-05-26 7381 ENSG00000156467 OTTHUMG00000164711 uc003yhq.5 X13585 NM_006294 "CCDS59107|CCDS6269" P14927 "2167087|2543413|3056408" MGI:1914780 RGD:1311971 191330 166726 HGNC:12582 "ENST00000287022.10|NM_006294.5" HGNC:12582 +HGNC:55521 UQCRB-AS1 UQCRB antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 Antisense RNAs 1987 2021-03-18 2021-03-18 101927039 ENSG00000254224 XR_242407 +HGNC:12583 UQCRBP1 ubiquinol-cytochrome c reductase binding protein pseudogene 1 pseudogene pseudogene Approved Xp11.21 Xp11.21 1993-07-16 2020-04-20 442454 ENSG00000237748 OTTHUMG00000021675 NR_002308 2543413 PGOHUM00000241342 HGNC:12583 +HGNC:12584 UQCRBP2 ubiquinol-cytochrome c reductase binding protein pseudogene 2 pseudogene pseudogene Approved 1q23.3 01q23.3 1993-07-16 2020-04-20 100130719 ENSG00000227941 OTTHUMG00000034418 NG_027838 2543413 PGOHUM00000256868 HGNC:12584 +HGNC:39033 UQCRBP3 ubiquinol-cytochrome c reductase binding protein pseudogene 3 pseudogene pseudogene Approved 5p15.2 05p15.2 2010-09-24 2014-11-19 100288785 ENSG00000249928 OTTHUMG00000161815 NG_028711 PGOHUM00000235128 HGNC:39033 +HGNC:12585 UQCRC1 ubiquinol-cytochrome c reductase core protein 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "D3S3191|QCR1|UQCR1" ubiquinol-cytochrome c reductase core protein I "Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits|M16 metallopeptidases" "642|1440" 1993-07-09 2017-09-12 2021-05-26 7384 ENSG00000010256 OTTHUMG00000133539 uc003cub.2 BC009586 NM_003365 CCDS2774 P31930 8407948 MGI:107876 RGD:1303314 191328 471300 M16.973 1.10.2.2 HGNC:12585 "ENST00000203407.6|NM_003365.3" +HGNC:12586 UQCRC2 ubiquinol-cytochrome c reductase core protein 2 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "QCR2|UQCR2" ubiquinol-cytochrome c reductase core protein II "Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits|M16 metallopeptidases" "642|1440" 1993-07-09 2017-09-12 2021-05-26 7385 ENSG00000140740 OTTHUMG00000131585 uc002djx.4 J04973 NM_003366 CCDS10601 P22695 "8288258|2547763" MGI:1914253 RGD:1359150 191329 328770 M16.974 1.10.2.2 HGNC:12586 "ENST00000268379.9|NM_003366.4" HGNC:12586 +HGNC:44309 UQCRC2P1 ubiquinol-cytochrome c reductase core protein 2 pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 ubiquinol-cytochrome c reductase core protein II pseudogene 1 2012-08-09 2017-09-12 2017-09-12 100131327 ENSG00000236736 OTTHUMG00000156315 NG_022204 PGOHUM00000237612 HGNC:44309 +HGNC:12587 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 protein-coding gene gene with protein product Approved 19q12 19q12 "RIS1|RIP1|UQCR5|RISP" cytochrome b-c1 complex subunit 5 Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 1993-09-20 2021-05-26 7386 ENSG00000169021 OTTHUMG00000181997 uc002nsd.3 BC010035 NM_006003 CCDS12415 P47985 8088805 MGI:1913944 RGD:628838 191327 471302 1.10.2.2 HGNC:12587 "ENST00000304863.6|NM_006003.3" HGNC:12587 +HGNC:55295 UQCRFS1-DT UQCRFS1 divergent transcript non-coding RNA RNA, long non-coding Approved 19q12 19q12 Divergent transcripts 1990 2020-10-14 2020-10-14 105372352 ENSG00000267498 XR_002958393 +HGNC:12588 UQCRFS1P1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1 pseudogene pseudogene Approved 22q13.1 22q13.1 UQCRFSL1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide-like 1 1994-12-16 2010-10-28 2010-10-28 2014-11-19 100128525 ENSG00000226085 OTTHUMG00000151103 NG_009458 P0C7P4 8088805 MGI:1913944 HGNC:12588 +HGNC:39172 UQCRFS1P2 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2 pseudogene pseudogene Approved 7q34 07q34 2010-10-28 2010-10-28 647123 ENSG00000223721 OTTHUMG00000155872 NG_009734 PGOHUM00000233591 HGNC:39172 +HGNC:39173 UQCRFS1P3 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 3 pseudogene pseudogene Approved 6p22.3 06p22.3 2010-10-28 2010-10-28 100130994 ENSG00000217314 OTTHUMG00000014328 NG_022295 PGOHUM00000243071 HGNC:39173 +HGNC:12590 UQCRH ubiquinol-cytochrome c reductase hinge protein protein-coding gene gene with protein product Approved 1p33 01p33 "QCR6|UQCR8" ubiquinol-cytochrome c reductase, complex III subunit VIII Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 1993-07-09 2016-10-05 7388 ENSG00000173660 OTTHUMG00000007813 uc001cpp.4 BC001934 NM_006004 CCDS30704 P07919 2826252 MGI:1913826 RGD:1305987 613844 471304 1.10.2.2 HGNC:12590 "ENST00000311672.10|NM_006004.4" +HGNC:51714 UQCRHL ubiquinol-cytochrome c reductase hinge protein like protein-coding gene gene with protein product Approved 1p36.21 01p36.21 2015-06-12 2015-09-03 440567 ENSG00000233954 OTTHUMG00000003109 NM_001089591 CCDS76112 A0A096LP55 MGI:1913826 HGNC:51714 +HGNC:31341 UQCRHP1 ubiquinol-cytochrome c reductase hinge protein pseudogene 1 pseudogene pseudogene Approved 6p21.33 06p21.33 Em:AF129756.18 UQCRHP5 ubiquinol-cytochrome c reductase hinge protein pseudogene 5 2004-03-02 2014-11-19 100130756 ENSG00000230622 OTTHUMG00000031291 NG_023011 PGOHUM00000243144 HGNC:31341 +HGNC:38045 UQCRHP2 ubiquinol-cytochrome c reductase hinge protein pseudogene 2 pseudogene pseudogene Approved 2p23.3 02p23.3 2010-03-30 2014-11-19 729769 ENSG00000237629 OTTHUMG00000151934 NG_023004 PGOHUM00000240602 HGNC:38045 +HGNC:38046 UQCRHP3 ubiquinol-cytochrome c reductase hinge protein pseudogene 3 pseudogene pseudogene Approved 10q11.21 10q11.21 2010-03-30 2014-11-19 100131995 ENSG00000224162 OTTHUMG00000018046 NG_022997 PGOHUM00000238757 HGNC:38046 +HGNC:38047 UQCRHP4 ubiquinol-cytochrome c reductase hinge protein pseudogene 4 pseudogene pseudogene Approved 3p13 03p13 2010-03-30 2014-11-19 100128448 ENSG00000242728 OTTHUMG00000158799 NG_023010 PGOHUM00000238056 HGNC:38047 +HGNC:29594 UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "QP-C|QCR8|UQCR7" "ubiquinol-cytochrome c reductase, complex III subunit VII|complex III subunit 8" ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits 642 2005-12-01 2015-11-09 2021-05-26 27089 ENSG00000164405 OTTHUMG00000059836 uc003kya.2 BC001390 NM_014402 CCDS34237 O14949 "15544925|12709789|2164842" MGI:107807 RGD:1562350 612080 159955 1.10.2.2 HGNC:29594 "ENST00000378670.8|NM_014402.5" HGNC:29594 +HGNC:17785 URAD ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase protein-coding gene gene with protein product Approved 13q12.2 13q12.2 OHCU decarboxylase PRHOXNB parahox cluster neighbor 2005-09-06 2013-06-18 2013-06-18 2017-03-30 646625 ENSG00000183463 OTTHUMG00000186217 NM_001105577 CCDS45020 A6NGE7 16462750 MGI:3647519 RGD:1595191 615804 4.1.1.97 HGNC:17785 "ENST00000332715.6|NM_001105577.2" +HGNC:43695 URAHP urate (hydroxyiso-) hydrolase, pseudogene pseudogene pseudogene Approved 16q24.3 16q24.3 URAH HIU hydrolase 2013-06-18 2013-06-18 100130015 ENSG00000222019 OTTHUMG00000154575 NR_027335 20106906 MGI:1916142 615805 3.5.2.17 HGNC:43695 +HGNC:17344 URB1 URB1 ribosome biogenesis homolog protein-coding gene gene with protein product Approved 21q22.11 21q22.11 "KIAA0539|NPA1" C21orf108 "chromosome 21 open reading frame 108|URB1 ribosome biogenesis 1 homolog (S. cerevisiae)" "Armadillo like helical domain containing|Ribosomal biogenesis factors|Small nucleolar RNA protein coding host genes" "1492|1729|1835" 2001-12-11 2006-11-28 2018-08-08 2018-08-08 9875 ENSG00000142207 OTTHUMG00000064919 uc002ypn.3 AB011111 NM_014825 CCDS46645 O60287 29246861 MGI:2146468 RGD:1304621 608865 HGNC:17344 "ENST00000382751.4|NM_014825.3" +HGNC:23128 URB1-AS1 URB1 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 21q22.11 21q22.11 "PRED84|MGC14136" C21orf119 chromosome 21 open reading frame 119 Antisense RNAs 1987 2003-10-01 2014-10-01 2014-10-01 2014-11-19 84996 ENSG00000256073 OTTHUMG00000064921 BC007928 NR_026845 Q96HZ7 URB1-AS1 HGNC:23128 +HGNC:28967 URB2 URB2 ribosome biogenesis homolog protein-coding gene gene with protein product Approved 1q42.13 01q42.13 "NPA2|NET10" nucleolar preribosomal-associated protein 2 KIAA0133 "KIAA0133|URB2 ribosome biogenesis 2 homolog (S. cerevisiae)" Ribosomal biogenesis factors 1729 2004-11-08 2008-10-01 2018-08-08 2018-08-08 9816 ENSG00000135763 OTTHUMG00000039464 uc001hts.1 D50923 NM_014777 CCDS31052 Q14146 8590280 MGI:2681124 RGD:1307980 619372 HGNC:28967 "ENST00000258243.7|NM_014777.4" +HGNC:30890 URGCP upregulator of cell proliferation protein-coding gene gene with protein product Approved 7p13 07p13 "URG4|KIAA1507|FLJ20654|DKFZp666G166|DKFZp686O0457" up-regulated gene 4 2009-12-15 2014-11-19 55665 ENSG00000106608 OTTHUMG00000155245 uc003tiy.4 NM_001077664 "CCDS43572|CCDS47577|CCDS47578" Q8TCY9 "10819331|12082552" MGI:1919296 RGD:1564681 610337 HGNC:30890 "ENST00000453200.6|NM_001077663.3" +HGNC:49188 URGCP-MRPS24 URGCP-MRPS24 readthrough other readthrough Approved 7p13 07p13 2013-09-25 2013-09-25 100534592 ENSG00000270617 OTTHUMG00000185136 NM_001204871 HGNC:49188 +HGNC:13236 URI1 URI1 prefoldin like chaperone protein-coding gene gene with protein product Approved 19q12 19q12 "RMP|NNX3|FLJ10575|URI|PPP1R19" "unconventional prefoldin RPB5 interactor|RPB5-mediating protein|protein phosphatase 1, regulatory subunit 19" C19orf2 chromosome 19 open reading frame 2 "Protein phosphatase 1 regulatory subunits|Prefoldin subunits" "694|956" 2002-09-13 2011-11-21 2019-01-21 2019-01-21 8725 ENSG00000105176 OTTHUMG00000177923 uc002nsr.4 AF091095 NM_134447 "CCDS58658|CCDS12420" O94763 "9878255|9819440" MGI:1342294 RGD:1310358 603494 HGNC:13236 "ENST00000392271.6|NM_003796.3" +HGNC:28378 URM1 ubiquitin related modifier 1 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 MGC2668 C9orf74 "chromosome 9 open reading frame 74|ubiquitin related modifier 1 homolog (S. cerevisiae)" 2004-01-06 2006-11-28 2010-06-24 2016-10-05 81605 ENSG00000167118 OTTHUMG00000020742 uc004buv.3 AK097029 NM_030914 "CCDS48035|CCDS6900|CCDS59148" Q9BTM9 "16046629|16864801|25747390" MGI:1915455 RGD:1306599 612693 HGNC:28378 "ENST00000372853.9|NM_030914.4" +HGNC:26444 UROC1 urocanate hydratase 1 protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "FLJ31300|HMFN0320" urocanase 1 urocanase domain containing 1 2005-02-07 2012-08-21 2021-05-26 131669 ENSG00000159650 OTTHUMG00000162753 uc003eiz.3 AK055862 NM_144639 "CCDS3038|CCDS54636" Q96N76 19304569 MGI:2385332 RGD:1587777 613012 212917 4.2.1.49 HGNC:26444 "ENST00000290868.7|NM_144639.3" HGNC:26444 +HGNC:12591 UROD uroporphyrinogen decarboxylase protein-coding gene gene with protein product Approved 1p34.1 01p34.1 2001-06-22 2021-05-26 7389 ENSG00000126088 OTTHUMG00000008949 uc001cna.3 BC001778 NM_000374 CCDS518 P06132 "3015909|3460962" MGI:98916 RGD:3946 LRG_1079|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1079.xml 613521 120429 4.1.1.37 HGNC:12591 "ENST00000246337.9|NM_000374.5" HGNC:12591 +HGNC:12592 UROS uroporphyrinogen III synthase protein-coding gene gene with protein product Approved 10q26.2 10q26.2 congenital erythropoietic porphyria 1991-09-13 2008-07-31 2021-05-26 7390 ENSG00000188690 OTTHUMG00000019236 uc001lix.5 J03824 NM_000375 "CCDS7648|CCDS81522" P10746 2037278 MGI:98917 RGD:1310396 LRG_1081|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1081.xml 606938 120431 4.2.1.75 HGNC:12592 "ENST00000368797.10|NM_000375.3" HGNC:12592 +HGNC:25792 USB1 U6 snRNA biogenesis phosphodiesterase 1 protein-coding gene gene with protein product Approved 16q21 16q21 "FLJ13154|HVSL1|Mpn1" "HVSL motif containing 1|poikiloderma with neutropenia|U six biogenesis 1|mutated in poikiloderma with neutropenia protein 1" C16orf57 "chromosome 16 open reading frame 57|U6 snRNA biogenesis 1" 2006-02-17 2012-08-21 2016-03-31 2021-05-26 79650 ENSG00000103005 OTTHUMG00000133456 uc002emz.4 AK023216 NM_024598 "CCDS55997|CCDS10791|CCDS81991|CCDS81990|CCDS55998" Q9BQ65 "20004881|20503306|22899009|23022480" MGI:2142454 RGD:1305215 LRG_352|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_352.xml 613276 225243 3.1.4.- HGNC:25792 "ENST00000219281.8|NM_024598.4" HGNC:25792 +HGNC:30882 USE1 unconventional SNARE in the ER 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "p31|SLT1|MDS032|D12" "Q-SNARE|SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)" unconventional SNARE in the ER 1 homolog (S. cerevisiae) SNAREs 1124 2007-08-20 2016-03-14 2016-03-14 55850 ENSG00000053501 OTTHUMG00000182723 uc002nfo.3 AF220052 NM_018467 CCDS46011 Q9NZ43 "16354670|15029241" MGI:1914273 RGD:1306660 610675 HGNC:30882 "ENST00000263897.10|NM_018467.4" +HGNC:12593 USF1 upstream transcription factor 1 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 "UEF|MLTFI|bHLHb11" Basic helix-loop-helix proteins 420 1992-12-10 2016-10-05 7391 ENSG00000158773 OTTHUMG00000031472 uc001fxi.5 BC035505 NM_007122 CCDS1214 P22415 8486371 MGI:99542 RGD:620974 191523 HGNC:12593 "ENST00000368021.7|NM_007122.5" +HGNC:23773 USF1P1 upstream transcription factor 1 pseudogene 1 pseudogene pseudogene Approved 21q22.11 21q22.11 USF1P upstream transcription factor 1 pseudogene 2008-01-31 2010-02-26 2010-02-26 2014-11-19 100151645 ENSG00000226501 OTTHUMG00000065124 NG_007657 PGOHUM00000239166 HGNC:23773 +HGNC:12594 USF2 upstream transcription factor 2, c-fos interacting protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FIP|bHLHb12" Basic helix-loop-helix proteins 420 1994-10-25 2019-08-21 7392 ENSG00000105698 OTTHUMG00000183182 uc002nyq.2 AY007087 NM_003367 "CCDS12452|CCDS12453|CCDS82329" Q15853 8954795 MGI:99961 RGD:620975 600390 HGNC:12594 "ENST00000222305.8|NM_003367.4" +HGNC:30494 USF3 upstream transcription factor family member 3 protein-coding gene gene with protein product Approved 3q13.2 03q13.2 KIAA2018 KIAA2018 2005-03-02 2015-10-08 2015-10-08 2015-10-08 205717 ENSG00000176542 OTTHUMG00000159322 AB095938 NM_001009899 CCDS43133 Q68DE3 MGI:2685454 RGD:1560175 617568 HGNC:30494 "ENST00000316407.9|NM_001009899.4" HGNC:30494 +HGNC:12597 USH1C USH1 protein network component harmonin protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "PDZ73|harmonin|NY-CO-37|NY-CO-38|PDZ-73|AIE-75|PDZD7C" harmonin DFNB18 "deafness, autosomal recessive 18|Usher syndrome 1C (autosomal recessive, severe)|Usher syndrome 1C" PDZ domain containing 1220 1992-06-08 2016-02-16 2021-05-26 10083 ENSG00000006611 OTTHUMG00000166323 uc001mne.4 AB006955 NM_005709 "CCDS7825|CCDS31438|CCDS73265" Q9Y6N9 "10973247|12107438" MGI:1919338 RGD:1303329 "Mutations of the Harmonin Gene|http://www.retina-international.org/files/sci-news/ush1cmut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH1C" 605242 120433 HGNC:12597 "ENST00000005226.12|NM_153676.4" HGNC:12597 +HGNC:16356 USH1G USH1 protein network component sans protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "Sans|FLJ33924|ANKS4A" Usher syndrome 1G (autosomal recessive) "Ankyrin repeat domain containing|Sterile alpha motif domain containing" "403|760" 2001-12-07 2016-02-17 2021-05-26 124590 ENSG00000182040 OTTHUMG00000178864 uc032fra.2 AK091243 NM_173477 CCDS32725 Q495M9 12588794 MGI:2450757 RGD:1304551 "CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH1G|LRG_1416|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1416.xml" 607696 120442 HGNC:16356 "ENST00000614341.5|NM_173477.5" HGNC:16356 +HGNC:12601 USH2A usherin protein-coding gene gene with protein product Approved 1q41 01q41 RP39 USH2 Usher syndrome 2A (autosomal recessive, mild) "Fibronectin type III domain containing|USH2 complex " "555|1244" 1990-03-06 2016-05-25 2021-05-26 7399 ENSG00000042781 OTTHUMG00000037079 uc001hku.1 AF055580 NM_007123 "CCDS1516|CCDS31025" O75445 "9624053|10729113" MGI:1341292 RGD:628777 "Mutations of the USH2a Gene|http://www.retina-international.org/files/sci-news/ush2amut.htm|CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH2A" 608400 120447 HGNC:12601 "ENST00000307340.8|NM_206933.4" HGNC:12601 +HGNC:40606 USH2A-AS1 USH2A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2020-04-16 2020-04-16 105372918 ENSG00000236292 OTTHUMG00000037078 XR_922595 +HGNC:40605 USH2A-AS2 USH2A antisense RNA 2 non-coding RNA RNA, long non-coding Approved 1q41 01q41 Antisense RNAs 1987 2020-04-16 2020-04-16 102723833 ENSG00000233620 OTTHUMG00000037062 NR_125992 +HGNC:24058 USHBP1 USH1 protein network component harmonin binding protein 1 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "MCC2|AIEBP|FLJ38709" Usher syndrome 1C binding protein 1 2004-03-17 2016-03-14 2016-03-14 83878 ENSG00000130307 OTTHUMG00000182730 uc002nfs.2 AK096028 NM_031941 "CCDS12353|CCDS77256" Q8N6Y0 11311560 MGI:1922920 RGD:1310859 611810 HGNC:24058 "ENST00000252597.8|NM_031941.4" +HGNC:30904 USO1 USO1 vesicle transport factor protein-coding gene gene with protein product Approved 4q21.1 04q21.1 "TAP|VDP|p115" "vesicle docking protein|transcytosis associated protein" "USO1 homolog, vesicle docking protein (yeast)|USO1 vesicle docking protein homolog (yeast)" Armadillo like helical domain containing 1492 2007-08-20 2012-12-10 2012-12-10 8615 ENSG00000138768 OTTHUMG00000160952 uc032tmk.2 AL832010 NM_003715 "CCDS75144|CCDS77929" O60763 "9478999|9150144|12077354|15979508|14736916" MGI:1929095 RGD:621604 603344 HGNC:30904 "ENST00000514213.7|NM_003715.4" +HGNC:12607 USP1 ubiquitin specific peptidase 1 protein-coding gene gene with protein product Approved 1p31.3 01p31.3 Ubiquitinyl hydrolase 1, Ubiquitin carboxyl-terminal hydrolase 1, ubiquitin thiolesterase 1 ubiquitin specific protease 1 Ubiquitin specific peptidases 366 1998-06-08 2005-08-08 2021-03-30 7398 ENSG00000162607 OTTHUMG00000008972 uc001daj.3 NM_001017415 CCDS621 O94782 12838346 MGI:2385198 RGD:1306461 603478 C19.019 objectId:2428 3.4.19.12 HGNC:12607 "ENST00000339950.5|NM_003368.5" HGNC:12607 +HGNC:12618 USP2 ubiquitin specific peptidase 2 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 UBP41 ubiquitin specific protease 2 Ubiquitin specific peptidases 366 1999-07-09 2005-08-08 2020-04-01 9099 ENSG00000036672 OTTHUMG00000166200 uc001pwm.5 AF079564 NM_171997 "CCDS8423|CCDS8422|CCDS58189" O75604 12838346 MGI:1858178 RGD:621073 604725 C19.013 objectId:2430 HGNC:12618 "ENST00000260187.7|NM_004205.5" HGNC:12618 +HGNC:48673 USP2-AS1 USP2 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 THY1-AS1 Antisense RNAs 1987 2013-06-06 2013-06-06 100499227 ENSG00000245248 OTTHUMG00000166173 NR_034160 USP2-AS1 HGNC:48673 +HGNC:12626 USP3 ubiquitin specific peptidase 3 protein-coding gene gene with protein product Approved 15q22.31 15q22.31 ubiquitin specific protease 3 Ubiquitin specific peptidases 366 1999-07-09 2005-08-08 2019-04-16 9960 ENSG00000140455 OTTHUMG00000172309 uc002amf.5 AF073344 NM_001256702 "CCDS58370|CCDS32265" Q9Y6I4 12838346 MGI:2152450 RGD:1308852 604728 C19.026 HGNC:12626 "ENST00000380324.8|NM_006537.4" +HGNC:44140 USP3-AS1 USP3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q22.31 15q22.31 Antisense RNAs 1987 2013-05-24 2013-05-24 100130855 ENSG00000259248 OTTHUMG00000172432 AK093077 NR_034080 USP3-AS1 HGNC:44140 +HGNC:12627 USP4 ubiquitin specific peptidase 4 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Unph UNP ubiquitin specific peptidase 4 (proto-oncogene) Ubiquitin specific peptidases 366 1998-05-29 2016-04-06 2016-10-05 7375 ENSG00000114316 OTTHUMG00000156825 uc003cwq.3 U20657 NM_199443 "CCDS2793|CCDS2794|CCDS58832" Q13107 "12838346|9464533" MGI:98905 RGD:1587387 603486 C19.010 HGNC:12627 "ENST00000265560.9|NM_003363.4" +HGNC:12628 USP5 ubiquitin specific peptidase 5 protein-coding gene gene with protein product Approved 12p13 12p13 IsoT isopeptidase T ubiquitin specific peptidase 5 (isopeptidase T) Ubiquitin specific peptidases 366 1999-02-01 2016-04-06 2016-04-06 8078 ENSG00000111667 OTTHUMG00000169233 uc001qrh.5 U35116 NM_001098536 "CCDS31733|CCDS41743" P45974 "12838346|8723724" MGI:1347343 RGD:1308438 601447 C19.001 objectId:2431 HGNC:12628 "ENST00000229268.13|NM_001098536.2" +HGNC:12629 USP6 ubiquitin specific peptidase 6 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "Tre-2|TRE17|Tre2" "ubiquitin carboxyl-terminal hydrolase 6|TBC1D3 and USP32 fusion|Tre-2 oncogene" "HRP1|TRESMCR" "ubiquitin specific protease 6 (Tre-2 oncogene)|TRE oncogene, Smith Magenis syndrome chromosome region|ubiquitin specific peptidase 6 (Tre-2 oncogene)" Ubiquitin specific peptidases 366 1999-02-01 2014-06-12 2016-10-05 9098 ENSG00000129204 OTTHUMG00000099449 uc002gau.2 X63547 NM_004505 CCDS11069 P35125 "12838346|1349106" MGI:2144475 USP6 604334 C19.009 3.4.19.12 HGNC:12629 "ENST00000574788.6|NM_001304284.2" +HGNC:16858 USP6NL USP6 N-terminal like protein-coding gene gene with protein product Approved 10p14 10p14 "RNTRE|KIAA0019|TRE2NL|RN-tre" related to the N terminus of tre USP6NL-IT1 USP6NL intronic transcript 1 (non-protein coding) 2003-11-06 2016-10-05 9712 ENSG00000148429 OTTHUMG00000017672 uc001iks.1 BC010351 NM_014688 "CCDS53492|CCDS44357" Q92738 "8700515|8700527|12399475" MGI:2138893 RGD:1311786 605405 HGNC:16858 "ENST00000609104.6|NM_014688.5" +HGNC:55251 USP6NL-AS1 USP6NL antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p14 10p14 Antisense RNAs 1987 2020-09-24 2020-09-24 107984208 ENSG00000271360 NR_160647 +HGNC:12630 USP7 ubiquitin specific peptidase 7 protein-coding gene gene with protein product Approved 16p13.2 16p13.2 HAUSP ubiquitin specific peptidase 7 (herpes virus-associated) Ubiquitin specific peptidases 366 1998-10-12 2016-07-19 2021-05-26 7874 ENSG00000187555 OTTHUMG00000176903 uc002czl.2 Z72499 NM_001286457 "CCDS66941|CCDS32385" Q93009 "12838346|9925944" MGI:2182061 RGD:1306915 602519 471312 C19.016 HGNC:12630 "ENST00000344836.9|NM_003470.3" HGNC:12630 +HGNC:55379 USP7-AS1 USP7 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.2 16p13.2 Antisense RNAs 1987 2020-11-12 2020-11-12 105371074 ENSG00000260979 XR_933049 +HGNC:12631 USP8 ubiquitin specific peptidase 8 protein-coding gene gene with protein product Approved 15q21.2 15q21.2 "HumORF8|KIAA0055|UBPY|SPG59" "Ubiquitin carboxyl-terminal hydrolase 8|Ubiquitin isopeptidase Y" ubiquitin specific protease 8 Ubiquitin specific peptidases 366 1999-02-01 2005-08-08 2021-11-15 9101 ENSG00000138592 OTTHUMG00000131645 uc001zyn.6 D29956 NM_005154 "CCDS61632|CCDS10137" P40818 "12838346|9582025|24482476|17035239" MGI:1934029 RGD:1304979 USP8 603158 403334 C19.011 3.4.19.12 HGNC:12631 "ENST00000307179.9|NM_005154.5" HGNC:12631 +HGNC:13987 USP8P1 USP8 pseudogene 1 pseudogene pseudogene Approved 6p21.33 06p21.33 "KIAA0055-hom|D84394.7" USP8P "ubiquitin specific protease 8 pseudogene|ubiquitin specific peptidase 8 pseudogene|ubiquitin specific peptidase 8 pseudogene 1" 2004-01-12 2010-06-02 2019-10-16 2019-10-16 100287272 ENSG00000214892 OTTHUMG00000031047 NG_028817 PGOHUM00000262007 C19.P05 HGNC:13987 +HGNC:54601 USP8P2 USP8 pseudogene 2 pseudogene pseudogene Approved 2q23.1 02q23.1 2019-10-16 2019-10-16 100420351 ENSG00000226340 NG_023618 +HGNC:12632 USP9X ubiquitin specific peptidase 9 X-linked protein-coding gene gene with protein product Approved Xp11.4 Xp11.4 "DFFRX|FAF|MRX99" "ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)|ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)|ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)" "Ubiquitin specific peptidases|Armadillo like helical domain containing" "366|1492" 1999-02-01 2018-04-26 2021-05-26 8239 ENSG00000124486 OTTHUMG00000021367 uc004dfb.3 X98296 NM_004652 "CCDS43930|CCDS55403" Q93008 8922996 MGI:894681 RGD:1560056 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/USP9X 300072 401212 C19.017 HGNC:12632 "ENST00000378308.7|NM_001039591.3" HGNC:12632 +HGNC:12633 USP9Y ubiquitin specific peptidase 9 Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 "DFFRY|AZFA" "fat facets-like homolog (Drosophila)|azoospermia factor A" ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila) "Ubiquitin specific peptidases|Minor histocompatibility antigens|Armadillo like helical domain containing" "366|870|1492" 1999-02-01 2018-04-26 2020-07-27 8287 ENSG00000114374 OTTHUMG00000036469 uc004fst.2 Y13618 NM_004654 CCDS14781 O00507 "8922996|9384609|19246359" MGI:1313274 RGD:9087771 400005 120450 C19.028 HGNC:12633 "ENST00000338981.7|NM_004654.4" +HGNC:31741 USP9YP1 USP9Y pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 "USP9Y pseudogene 1|ubiquitin specific peptidase 9, Y-linked pseudogene 1" 2004-06-24 2018-04-26 2018-04-26 387362 ENSG00000250951 OTTHUMG00000041979 NG_003171 12815422 PGOHUM00000233993 HGNC:31741 +HGNC:31742 USP9YP2 USP9Y pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 "USP9Y pseudogene 2|ubiquitin specific peptidase 9, Y-linked pseudogene 2" 2004-06-24 2018-04-26 2018-04-26 387363 ENSG00000249501 OTTHUMG00000041954 NG_003172 12815422 PGOHUM00000233779 HGNC:31742 +HGNC:37739 USP9YP3 USP9Y pseudogene 3 pseudogene pseudogene Approved Yq11.223 Yq11.223 "USP9Y pseudogene 3|ubiquitin specific peptidase 9, Y-linked pseudogene 3" 2010-02-10 2018-04-26 2018-04-26 387364 ENSG00000237023 OTTHUMG00000043577 NG_004832 PGOHUM00000234014 HGNC:37739 +HGNC:37740 USP9YP4 USP9Y pseudogene 4 pseudogene pseudogene Approved Yp11.2 Yp11.2 "USP9Y pseudogene 4|ubiquitin specific peptidase 9, Y-linked pseudogene 4" 2010-02-11 2018-04-26 2018-04-26 387359 ENSG00000238154 OTTHUMG00000041408 NG_003168 PGOHUM00000233700 HGNC:37740 +HGNC:38418 USP9YP5 USP9Y pseudogene 5 pseudogene pseudogene Approved Yq11.222 Yq11.222 "USP9Y pseudogene 5|ubiquitin specific peptidase 9, Y-linked pseudogene 5" 2010-05-11 2018-04-26 2018-04-26 100421217 ENSG00000249634 OTTHUMG00000041983 NG_004636 PGOHUM00000233774 HGNC:38418 +HGNC:38078 USP9YP6 USP9Y pseudogene 6 pseudogene pseudogene Approved Yq11.222 Yq11.222 CDY24P "USP9Y pseudogene 6|chromodomain protein, Y-linked 24 pseudogene|ubiquitin specific peptidase 9, Y-linked pseudogene 6" 2010-05-11 2018-04-26 2018-04-26 100462820 ENSG00000226116 OTTHUMG00000041654 NG_021915 PGOHUM00000233766 HGNC:38078 +HGNC:38079 USP9YP7 USP9Y pseudogene 7 pseudogene pseudogene Approved Yq11.222 Yq11.222 "USP9Y pseudogene 7|ubiquitin specific peptidase 9, Y-linked pseudogene 7" 2010-05-11 2018-04-26 2018-04-26 100462821 ENSG00000224485 OTTHUMG00000059524 NG_004636 PGOHUM00000233975 HGNC:38079 +HGNC:38424 USP9YP8 USP9Y pseudogene 8 pseudogene pseudogene Approved Yq11.223 Yq11.223 "USP9Y pseudogene 8|ubiquitin specific peptidase 9, Y-linked pseudogene 8" 2010-05-11 2018-04-26 2018-04-26 100421219 ENSG00000229416 OTTHUMG00000043579 NG_021921 PGOHUM00000233802 HGNC:38424 +HGNC:38435 USP9YP9 USP9Y pseudogene 9 pseudogene pseudogene Approved Yq11.23 Yq11.23 "USP9Y pseudogene 9|ubiquitin specific peptidase 9, Y-linked pseudogene 9" 2010-05-11 2018-04-26 2018-04-26 100421220 ENSG00000232614 OTTHUMG00000045258 NG_021931 PGOHUM00000233875 HGNC:38435 +HGNC:38454 USP9YP10 USP9Y pseudogene 10 pseudogene pseudogene Approved Yq11.222 Yq11.222 "USP9Y pseudogene 10|ubiquitin specific peptidase 9, Y-linked pseudogene 10" 2010-05-11 2018-04-26 2018-04-26 100421222 ENSG00000238135 OTTHUMG00000041964 NG_004636 PGOHUM00000233998 HGNC:38454 +HGNC:38460 USP9YP11 USP9Y pseudogene 11 pseudogene pseudogene Approved Yq11.23 Yq11.23 "USP9Y pseudogene 11|ubiquitin specific peptidase 9, Y-linked pseudogene 11" 2010-05-11 2018-04-26 2018-04-26 100421224 ENSG00000226369 OTTHUMG00000044989 NG_004755 PGOHUM00000234047 HGNC:38460 +HGNC:38720 USP9YP12 USP9Y pseudogene 12 pseudogene pseudogene Approved Yq11.223 Yq11.223 ubiquitin specific peptidase 9, Y-linked pseudogene 12 2010-07-28 2018-04-26 2018-04-26 100874382 ENSG00000227871 OTTHUMG00000044990 NG_032211 PGOHUM00000233834 HGNC:38720 +HGNC:38721 USP9YP13 USP9Y pseudogene 13 pseudogene pseudogene Approved Yq11.223 Yq11.223 ubiquitin specific peptidase 9, Y-linked pseudogene 13 2010-07-28 2018-04-26 2018-04-26 100861434 ENSG00000224571 OTTHUMG00000044988 NG_032005 PGOHUM00000234046 HGNC:38721 +HGNC:38748 USP9YP14 USP9Y pseudogene 14 pseudogene pseudogene Approved Yq11.222 Yq11.222 ubiquitin specific peptidase 9, Y-linked pseudogene 14 2010-08-03 2018-04-26 2018-04-26 107133502 ENSG00000227494 OTTHUMG00000041981 NG_004636 PGOHUM00000233990 HGNC:38748 +HGNC:38751 USP9YP15 USP9Y pseudogene 15 pseudogene pseudogene Approved Yq11.222 Yq11.222 ubiquitin specific peptidase 9, Y-linked pseudogene 15 2010-08-03 2018-04-26 2018-04-26 106480713 ENSG00000233120 OTTHUMG00000059527 NG_043508 PGOHUM00000233981 HGNC:38751 +HGNC:38752 USP9YP16 USP9Y pseudogene 16 pseudogene pseudogene Approved Yq11.222 Yq11.222 ubiquitin specific peptidase 9, Y-linked pseudogene 16 2010-08-03 2018-04-26 2018-04-26 106478927 ENSG00000232744 OTTHUMG00000059526 NG_004636 PGOHUM00000233769 HGNC:38752 +HGNC:38753 USP9YP17 USP9Y pseudogene 17 pseudogene pseudogene Approved Yq11.223 Yq11.223 ubiquitin specific peptidase 9, Y-linked pseudogene 17 2010-08-03 2018-04-26 2018-04-26 106480714 ENSG00000229553 OTTHUMG00000043601 NG_043517 PGOHUM00000233809 HGNC:38753 +HGNC:38754 USP9YP18 USP9Y pseudogene 18 pseudogene pseudogene Approved Yq11.223 Yq11.223 ubiquitin specific peptidase 9, Y-linked pseudogene 18 2010-08-03 2018-04-26 2018-04-26 106480424 ENSG00000223407 OTTHUMG00000044994 NG_043241 PGOHUM00000233827 HGNC:38754 +HGNC:38755 USP9YP19 USP9Y pseudogene 19 pseudogene pseudogene Approved Yq11.23 Yq11.23 ubiquitin specific peptidase 9, Y-linked pseudogene 19 2010-08-03 2018-04-26 2018-04-26 100500797 ENSG00000225326 OTTHUMG00000045257 NG_027712 PGOHUM00000233876 HGNC:38755 +HGNC:38767 USP9YP20 USP9Y pseudogene 20 pseudogene pseudogene Approved Yq11.23 Yq11.23 ubiquitin specific peptidase 9, Y-linked pseudogene 20 2010-08-03 2018-04-26 2018-04-26 106480717 ENSG00000230854 OTTHUMG00000045263 NG_043541 PGOHUM00000234093 HGNC:38767 +HGNC:38757 USP9YP21 USP9Y pseudogene 21 pseudogene pseudogene Approved Yq11.23 Yq11.23 ubiquitin specific peptidase 9, Y-linked pseudogene 21 2010-08-03 2018-04-26 2018-04-26 106480355 ENSG00000227635 OTTHUMG00000045265 NG_044702 PGOHUM00000233879 HGNC:38757 +HGNC:38758 USP9YP22 USP9Y pseudogene 22 pseudogene pseudogene Approved Yp11.2 Yp11.2 ubiquitin specific peptidase 9, Y-linked pseudogene 22 2010-08-03 2018-04-26 2018-04-26 100874383 ENSG00000224408 OTTHUMG00000041407 NG_032215 PGOHUM00000233919 HGNC:38758 +HGNC:38759 USP9YP23 USP9Y pseudogene 23 pseudogene pseudogene Approved Yq11.222 Yq11.222 ubiquitin specific peptidase 9, Y-linked pseudogene 23 2010-08-03 2018-04-26 2018-04-26 100500798 ENSG00000223555 OTTHUMG00000059528 NG_004636 PGOHUM00000233973 HGNC:38759 +HGNC:38760 USP9YP24 USP9Y pseudogene 24 pseudogene pseudogene Approved Yq11.223 Yq11.223 ubiquitin specific peptidase 9, Y-linked pseudogene 24 2010-08-03 2018-04-26 2018-04-26 106478928 ENSG00000230814 OTTHUMG00000043849 NG_043562 PGOHUM00000234027 HGNC:38760 +HGNC:38761 USP9YP25 USP9Y pseudogene 25 pseudogene pseudogene Approved Yq11.223 Yq11.223 ubiquitin specific peptidase 9, Y-linked pseudogene 25 2010-08-03 2018-04-26 2018-04-26 106480715 ENSG00000224866 OTTHUMG00000044983 NG_043524 PGOHUM00000234043 HGNC:38761 +HGNC:38762 USP9YP26 USP9Y pseudogene 26 pseudogene pseudogene Approved Yq11.23 Yq11.23 ubiquitin specific peptidase 9, Y-linked pseudogene 26 2010-08-03 2018-04-26 2018-04-26 106478929 ENSG00000234744 OTTHUMG00000045275 NG_043571 PGOHUM00000234095 HGNC:38762 +HGNC:38763 USP9YP27 USP9Y pseudogene 27 pseudogene pseudogene Approved Yq11.222 Yq11.222 ubiquitin specific peptidase 9, Y-linked pseudogene 27 2010-08-03 2018-04-26 2018-04-26 106480716 ENSG00000235521 OTTHUMG00000059529 NG_043534 PGOHUM00000233762 HGNC:38763 +HGNC:38764 USP9YP28 USP9Y pseudogene 28 pseudogene pseudogene Approved Yq11.222 Yq11.222 ubiquitin specific peptidase 9, Y-linked pseudogene 28 2010-08-03 2018-04-26 2018-04-26 107080622 ENSG00000224151 OTTHUMG00000041965 NG_004636 PGOHUM00000233782 HGNC:38764 +HGNC:38765 USP9YP29 USP9Y pseudogene 29 pseudogene pseudogene Approved Yq11.223 Yq11.223 ubiquitin specific peptidase 9, Y-linked pseudogene 29 2010-08-03 2018-04-26 2018-04-26 106480425 ENSG00000232424 OTTHUMG00000044984 NG_043251 PGOHUM00000233829 HGNC:38765 +HGNC:38766 USP9YP30 USP9Y pseudogene 30 pseudogene pseudogene Approved Yq11.23 Yq11.23 ubiquitin specific peptidase 9, Y-linked pseudogene 30 2010-08-03 2018-04-26 2018-04-26 100874384 ENSG00000235004 OTTHUMG00000045255 NG_032216 PGOHUM00000234088 HGNC:38766 +HGNC:38775 USP9YP31 USP9Y pseudogene 31 pseudogene pseudogene Approved Yq11.23 Yq11.23 ubiquitin specific peptidase 9, Y-linked pseudogene 31 2010-08-03 2018-04-26 2018-04-26 106478930 ENSG00000229250 OTTHUMG00000045039 NG_043580 PGOHUM00000233838 HGNC:38775 +HGNC:38776 USP9YP32 USP9Y pseudogene 32 pseudogene pseudogene Approved Yq11.222 Yq11.222 ubiquitin specific peptidase 9, Y-linked pseudogene 32 2010-08-03 2018-04-26 2018-04-26 106480718 ENSG00000237616 OTTHUMG00000059525 NG_004636 PGOHUM00000233767 HGNC:38776 +HGNC:38777 USP9YP33 USP9Y pseudogene 33 pseudogene pseudogene Approved Yq11.23 Yq11.23 ubiquitin specific peptidase 9, Y-linked pseudogene 33 2010-08-03 2018-04-26 2018-04-26 106478931 ENSG00000232064 OTTHUMG00000045270 NG_043590 PGOHUM00000233872 HGNC:38777 +HGNC:38778 USP9YP34 USP9Y pseudogene 34 pseudogene pseudogene Approved Yq11.222 Yq11.222 ubiquitin specific peptidase 9, Y-linked pseudogene 34 2010-08-03 2018-04-26 2018-04-26 387361 ENSG00000233378 OTTHUMG00000041656 NG_029262 PGOHUM00000233977 HGNC:38778 +HGNC:38779 USP9YP35 USP9Y pseudogene 35 pseudogene pseudogene Approved Yq11.23 Yq11.23 ubiquitin specific peptidase 9, Y-linked pseudogene 35 2010-08-03 2018-04-26 2018-04-26 106480719 ENSG00000237467 OTTHUMG00000045038 NG_043558 PGOHUM00000234050 HGNC:38779 +HGNC:38780 USP9YP36 USP9Y pseudogene 36 pseudogene pseudogene Approved Yq11.23 Yq11.23 ubiquitin specific peptidase 9, Y-linked pseudogene 36 2010-08-03 2018-04-26 2018-04-26 106478932 ENSG00000229709 OTTHUMG00000045268 NG_043598 PGOHUM00000234084 HGNC:38780 +HGNC:12608 USP10 ubiquitin specific peptidase 10 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "UBPO|KIAA0190" ubiquitin specific protease 10 Ubiquitin specific peptidases 366 1999-02-01 2005-08-08 2016-01-15 9100 ENSG00000103194 OTTHUMG00000176770 uc002fii.4 D80012 NM_001272075 "CCDS62004|CCDS45537" Q14694 12838346 MGI:894652 RGD:1561965 609818 C19.018 HGNC:12608 "ENST00000219473.12|NM_005153.3" +HGNC:31752 USP10P1 ubiquitin specific peptidase 10 pseudogene 1 pseudogene pseudogene Approved 14q11.2 14q11.2 ubiquitin specific protease 10 pseudogene 1 2004-07-19 2007-01-31 2012-11-02 780779 NG_005813 HGNC:31752 +HGNC:33272 USP10P2 ubiquitin specific peptidase10 pseudogene 2 pseudogene pseudogene Approved 14q11.1 14q11.1 2007-01-22 2007-01-22 780778 NG_005812 HGNC:33272 +HGNC:12609 USP11 ubiquitin specific peptidase 11 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 UHX1 ubiquitin specific protease 11 Ubiquitin specific peptidases 366 1999-02-01 2005-08-08 2020-04-02 8237 ENSG00000102226 OTTHUMG00000021437 uc064yux.1 U44839 NM_004651 CCDS14277 P51784 12838346 MGI:2384312 RGD:1303052 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/USP11 300050 C19.014 HGNC:12609 "ENST00000377107.7|NM_001371072.1" +HGNC:20485 USP12 ubiquitin specific peptidase 12 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 USP12L1 "ubiquitin specific protease 12 like 1|ubiquitin specific protease 12" Ubiquitin specific peptidases 366 2003-02-19 2003-10-08 2005-08-08 2014-11-19 219333 ENSG00000152484 OTTHUMG00000016626 uc001uqy.4 AL049221 NM_182488 CCDS31952 O75317 12838346 MGI:1270128 RGD:1308045 603091 HGNC:20485 "ENST00000282344.11|NM_182488.4" +HGNC:39961 USP12-AS1 USP12 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.13 13q12.13 USP12 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-18 2012-08-15 2014-11-19 100874070 ENSG00000232162 OTTHUMG00000016625 uc058waa.1 NR_046547 USP12-AS1 HGNC:39961 +HGNC:39962 USP12-DT USP12 divergent transcript non-coding RNA RNA, long non-coding Approved 13q12.13 13q12.13 USP12-AS2 "USP12 antisense RNA 2 (non-protein coding)|USP12 antisense RNA 2|USP12 antisense RNA 2 (head to head)" 2011-04-18 2021-07-23 2021-07-23 2021-07-23 100874071 ENSG00000230641 OTTHUMG00000016628 uc032aab.2 NR_046548 USP12-AS2 HGNC:39962 +HGNC:12610 USP12P1 USP12 pseudogene 1 pseudogene pseudogene Approved 5q33-q34 05q33-q34 "UBH1|USP12" "ubiquitin specific protease 12|ubiquitin specific protease 12 pseudogene 1|ubiquitin specific peptidase 12 pseudogene 1" 1999-02-01 2003-10-08 2019-10-16 2019-10-16 9959 ENSG00000253213 AF022789 NG_002822 12838346 PGOHUM00000235832 HGNC:12610 +HGNC:54575 USP12P2 USP12 pseudogene 2 pseudogene pseudogene Approved 2q23.1 02q23.1 2019-10-16 2019-10-16 100130682 ENSG00000224007 NG_021527 +HGNC:54576 USP12P3 USP12 pseudogene 3 pseudogene pseudogene Approved 9q21.11 09q21.11 2019-10-16 2019-10-16 100420439 NG_023815 +HGNC:21410 USP12PX USP12 pseudogene X-linked pseudogene pseudogene Approved Xq21.31 Xq21.31 USP12P2 "ubiquitin specific protease 12 pseudogene 2|ubiquitin specific peptidase 12 pseudogene 2|ubiquitin specific peptidase 12 pseudogene X-linked" 2003-10-07 2010-05-12 2019-10-16 2019-10-16 254700 ENSG00000226081 OTTHUMG00000021956 NG_002823 PGOHUM00000241887 HGNC:21410 +HGNC:23195 USP12PY USP12 pseudogene Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 USP12P3 "ubiquitin specific protease 12 pseudogene 3|ubiquitin specific peptidase 12 pseudogene 3|ubiquitin specific peptidase 12 pseudogene Y-linked" 2003-10-07 2010-05-12 2019-10-16 2019-10-16 359799 ENSG00000232927 OTTHUMG00000036183 NG_002824 HGNC:23195 +HGNC:12611 USP13 ubiquitin specific peptidase 13 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 IsoT-3 isopeptidase T-3 ubiquitin specific protease 13 (isopeptidase T-3) Ubiquitin specific peptidases 366 1999-02-01 2017-08-04 2017-08-04 8975 ENSG00000058056 OTTHUMG00000157783 uc003fkh.4 U75362 NM_003940 CCDS3235 Q92995 12838346 MGI:1919857 RGD:1306044 603591 C19.012 HGNC:12611 "ENST00000263966.8|NM_003940.3" +HGNC:12612 USP14 ubiquitin specific peptidase 14 protein-coding gene gene with protein product Approved 18p11.32 18p11.32 TGT "ubiquitin specific protease 14 (tRNA-guanine transglycosylase)|ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)" Ubiquitin specific peptidases 366 1999-02-01 2016-02-23 2019-08-20 9097 ENSG00000101557 OTTHUMG00000178040 uc002kkf.2 U30888 NM_005151 "CCDS32780|CCDS32781" P54578 12838346 MGI:1928898 RGD:1311825 607274 C19.015 objectId:2429 HGNC:12612 "ENST00000261601.8|NM_005151.4" +HGNC:12613 USP15 ubiquitin specific peptidase 15 protein-coding gene gene with protein product Approved 12q14.1 12q14.1 "KIAA0529|UNPH4" ubiquitin specific protease 15 "Ubiquitin specific peptidases|MicroRNA protein coding host genes" "366|1691" 1999-07-09 2005-08-08 2016-11-09 9958 ENSG00000135655 OTTHUMG00000170186 uc001srb.3 AB011101 NM_006313 "CCDS58251|CCDS58250|CCDS8963" Q9Y4E8 12838346 MGI:101857 RGD:628795 604731 C19.022 HGNC:12613 "ENST00000280377.10|NM_001252078.2" +HGNC:12614 USP16 ubiquitin specific peptidase 16 protein-coding gene gene with protein product Approved 21q21 21q21 Ubp-M ubiquitin specific protease 16 Ubiquitin specific peptidases 366 1999-07-09 2005-08-08 2015-08-26 10600 ENSG00000156256 OTTHUMG00000078802 uc002ymy.4 AF126736 NM_001001992 "CCDS13583|CCDS42912" Q9Y5T5 12838346 MGI:1921362 RGD:1307192 604735 C19.021 HGNC:12614 "ENST00000399976.7|NM_006447.3" +HGNC:37182 USP17L1 ubiquitin specific peptidase 17 like family member 1 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 USP17L1P ubiquitin specific peptidase 17-like family member 1, pseudogene 2009-08-12 2014-09-09 2019-02-18 2019-02-18 401447 ENSG00000230549 OTTHUMG00000150578 NM_001256873 CCDS78298 Q7RTZ2 "17109758|15780755" "MGI:107697|MGI:107699|MGI:3051372" HGNC:37182 "ENST00000529559.1|NM_001256873.1" +HGNC:34434 USP17L2 ubiquitin specific peptidase 17 like family member 2 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 DUB3 deubiquitinating enzyme 3 ubiquitin specific peptidase 17-like 2 Ubiquitin specific peptidases 366 2009-08-12 2019-02-18 2019-02-18 377630 ENSG00000223443 OTTHUMG00000165295 uc003wvc.2 BC156290 NM_201402 CCDS43713 Q6R6M4 "MGI:107697|MGI:107698|MGI:107699|MGI:3051372|MGI:3051498" RGD:6500127 610186 HGNC:34434 "ENST00000333796.4|NM_201402.3" +HGNC:37175 USP17L3 ubiquitin specific peptidase 17 like family member 3 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "USP17B|USP17F" ubiquitin specific peptidase 17-like 3 2009-08-12 2019-02-18 2019-02-18 645836 ENSG00000225327 OTTHUMG00000165406 uc031taf.1 NM_001256871 CCDS78301 A6NCW0 "17109758|15780755" "MGI:107697|MGI:107699|MGI:3051372" HGNC:37175 "ENST00000530484.1|NM_001256871.1" +HGNC:37176 USP17L4 ubiquitin specific peptidase 17 like family member 4 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 ubiquitin specific peptidase 17-like 4 2009-08-12 2019-02-18 2019-02-18 645402 ENSG00000236125 OTTHUMG00000150574 uc031tab.1 NM_001256874 CCDS78299 A6NCW7 "17109758|15780755" "MGI:107697|MGI:107699|MGI:3051372" HGNC:37176 "ENST00000526929.1|NM_001256874.1" +HGNC:37177 USP17L5 ubiquitin specific peptidase 17 like family member 5 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 ubiquitin specific peptidase 17-like 5 2009-08-12 2019-02-18 2019-02-18 728386 ENSG00000227140 OTTHUMG00000160182 uc021xlo.1 NM_001242329 CCDS59467 A8MUK1 "17109758|15780755" "MGI:107699|MGI:3051372|MGI:3051498" HGNC:37177 "ENST00000507227.1|NM_001242329.1" +HGNC:37179 USP17L6P ubiquitin specific peptidase 17 like family member 6, pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 "DUB4|vDUB4|USP17L6" ubiquitin specific peptidase 17-like 6, pseudogene 2009-08-12 2019-02-18 2019-02-18 391622 ENSG00000205946 OTTHUMG00000160200 NR_027279 Q6QN14 "17109758|15780755" "MGI:107697|MGI:107699|MGI:3051372" PGOHUM00000259929 HGNC:37179 +HGNC:37180 USP17L7 ubiquitin specific peptidase 17 like family member 7 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 ubiquitin specific peptidase 17-like 7 2009-08-12 2019-02-18 2019-02-18 392197 ENSG00000226430 OTTHUMG00000165294 uc031tag.2 NM_001256869 CCDS78305 P0C7H9 "17109758|15780755" "MGI:107697|MGI:107699|MGI:3051372" PGOHUM00000258331 HGNC:37180 "ENST00000530447.5|NM_001256869.2" +HGNC:37181 USP17L8 ubiquitin specific peptidase 17 like family member 8 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 ubiquitin specific peptidase 17-like 8 2009-08-12 2019-02-18 2020-06-18 392188 ENSG00000237038 OTTHUMG00000165405 uc064kbr.1 NM_001256872 CCDS78300 P0C7I0 "17109758|15780755" "MGI:107697|MGI:107699|MGI:3051372" RGD:1588758 HGNC:37181 "ENST00000527080.1|NM_001256872.1" +HGNC:12615 USP17L9P ubiquitin specific peptidase 17 like family member 9, pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 RS447 USP17 ubiquitin specific peptidase 17 1999-07-21 2012-10-09 2019-02-18 2020-04-20 391627 ENSG00000251694 OTTHUMG00000160188 D38378 NR_046416 12838346 "MGI:107697|MGI:107698|MGI:107699|MGI:3051372|MGI:3051498" 607011 PGOHUM00000245839 C19.023 HGNC:12615 +HGNC:44438 USP17L10 ubiquitin specific peptidase 17 like family member 10 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287144 ENSG00000231396 OTTHUMG00000160160 uc031sdg.1 NM_001256852 CCDS59454 C9JJH3 "MGI:107699|MGI:3051372|MGI:3051498" HGNC:44438 "ENST00000417945.1|NM_001256852.1" +HGNC:44439 USP17L11 ubiquitin specific peptidase 17 like family member 11 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287178 ENSG00000233136 OTTHUMG00000160162 uc031sdh.1 NM_001256854 CCDS59455 C9JVI0 "MGI:107699|MGI:3051372|MGI:3051498" HGNC:44439 "ENST00000457736.1|NM_001256854.1" +HGNC:44440 USP17L12 ubiquitin specific peptidase 17 like family member 12 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287205 ENSG00000227551 OTTHUMG00000160148 uc031sdi.1 NM_001256853 CCDS59456 C9JPN9 "MGI:107699|MGI:3051372|MGI:3051498" HGNC:44440 "ENST00000415041.1|NM_001256853.1" +HGNC:44441 USP17L13 ubiquitin specific peptidase 17 like family member 13 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287238 ENSG00000232399 OTTHUMG00000160152 uc031sdj.1 NM_001256855 CCDS59457 C9JLJ4 "MGI:107698|MGI:107699|MGI:3051372|MGI:3051498" HGNC:44441 "ENST00000429667.1|NM_001256855.1" +HGNC:44442 USP17L14P ubiquitin specific peptidase 17 like family member 14, pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287270 ENSG00000249482 OTTHUMG00000160147 NG_022047 PGOHUM00000245829 HGNC:44442 +HGNC:44443 USP17L15 ubiquitin specific peptidase 17 like family member 15 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100288520 ENSG00000223569 OTTHUMG00000160155 uc031sdk.1 NM_001256894 CCDS77901 C9J2P7 "MGI:107697|MGI:107698|MGI:107699|MGI:3051372|MGI:3051498" HGNC:44443 "ENST00000456464.2|NM_001256894.2" +HGNC:44444 USP17L16P ubiquitin specific peptidase 17 like family member 16, pseudogene pseudogene pseudogene Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287302 ENSG00000250231 OTTHUMG00000160161 NG_022048 PGOHUM00000259928 HGNC:44444 +HGNC:44445 USP17L17 ubiquitin specific peptidase 17 like family member 17 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287327 ENSG00000249104 OTTHUMG00000160158 uc031sdl.1 NM_001256857 CCDS59458 D6RBQ6 "MGI:107699|MGI:3051372|MGI:3051498" HGNC:44445 "ENST00000511568.1|NM_001256857.1" +HGNC:44446 USP17L18 ubiquitin specific peptidase 17 like family member 18 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287364 ENSG00000250844 OTTHUMG00000160153 uc011bwp.2 NM_001256859 CCDS59459 D6R9N7 "MGI:107699|MGI:3051372|MGI:3051498" HGNC:44446 "ENST00000504209.1|NM_001256859.1" +HGNC:44447 USP17L19 ubiquitin specific peptidase 17 like family member 19 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287404 ENSG00000248920 OTTHUMG00000160146 uc031sdm.1 NM_001256860 CCDS59460 D6RCP7 "MGI:107699|MGI:3051372|MGI:3051498" HGNC:44447 "ENST00000515566.1|NM_001256860.1" +HGNC:44448 USP17L20 ubiquitin specific peptidase 17 like family member 20 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287441 ENSG00000250745 OTTHUMG00000160150 uc031sdn.1 NM_001256861 CCDS59461 D6RJB6 "MGI:107699|MGI:3051372|MGI:3051498" HGNC:44448 "ENST00000506151.1|NM_001256861.1" +HGNC:44449 USP17L21 ubiquitin specific peptidase 17 like family member 21 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287478 ENSG00000249811 OTTHUMG00000160149 uc031sdo.1 NM_001256862 CCDS59462 D6R901 "MGI:107699|MGI:3051372|MGI:3051498" HGNC:44449 "ENST00000506414.1|NM_001256862.1" +HGNC:44450 USP17L22 ubiquitin specific peptidase 17 like family member 22 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 100287513 ENSG00000248933 OTTHUMG00000160159 uc031sdp.1 NM_001256863 CCDS59463 D6RA61 "MGI:107699|MGI:3051372|MGI:3051498" HGNC:44450 "ENST00000511280.1|NM_001256863.1" +HGNC:44451 USP17L23 ubiquitin specific peptidase 17 like family member 23 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 101241878 ENSG00000250913 OTTHUMG00000160156 uc062vda.1 D6RBM5 +HGNC:44453 USP17L24 ubiquitin specific peptidase 17 like family member 24 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 728369 ENSG00000232264 OTTHUMG00000160201 uc021xll.1 NM_001242327 CCDS59464 Q0WX57 HGNC:44453 "ENST00000504481.1|NM_001242327.1" +HGNC:44452 USP17L25 ubiquitin specific peptidase 17 like family member 25 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 728373 ENSG00000230430 OTTHUMG00000160192 uc021xlm.1 NM_001242326 CCDS59465 Q0WX57 HGNC:44452 "ENST00000509271.1|NM_001242326.1" +HGNC:44454 USP17L26 ubiquitin specific peptidase 17 like family member 26 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 728379 ENSG00000229579 OTTHUMG00000160189 uc021xln.1 NM_001242328 CCDS59466 Q0WX57 HGNC:44454 "ENST00000509660.1|NM_001242328.1" +HGNC:44455 USP17L27 ubiquitin specific peptidase 17 like family member 27 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 728393 ENSG00000235780 OTTHUMG00000160186 uc021xlp.1 NM_001242330 CCDS59468 Q0WX57 HGNC:44455 "ENST00000515574.1|NM_001242330.1" +HGNC:44456 USP17L28 ubiquitin specific peptidase 17 like family member 28 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 728400 ENSG00000231051 OTTHUMG00000160191 uc021xlq.1 NM_001242331 CCDS59469 Q0WX57 "MGI:107699|MGI:3051372|MGI:3051498" HGNC:44456 "ENST00000504543.1|NM_001242331.1" +HGNC:44457 USP17L29 ubiquitin specific peptidase 17 like family member 29 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 728405 ENSG00000231637 OTTHUMG00000160183 uc021xlr.1 NM_001242332 CCDS59470 Q0WX57 HGNC:44457 "ENST00000511681.1|NM_001242332.1" +HGNC:44458 USP17L30 ubiquitin specific peptidase 17 like family member 30 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 2012-10-09 2019-02-18 2019-02-18 728419 ENSG00000228856 OTTHUMG00000160199 uc031sdr.1 NM_001256867 CCDS59471 Q0WX57 HGNC:44458 "ENST00000504104.1|NM_001256867.1" +HGNC:12616 USP18 ubiquitin specific peptidase 18 protein-coding gene gene with protein product Approved 22q11.2 22q11.2 Ubl carboxyl-terminal hydrolase 18 ubiquitin specific protease 18 Ubiquitin specific peptidases 366 1999-11-16 2005-08-08 2021-05-26 11274 ENSG00000184979 OTTHUMG00000150104 uc002zny.4 AJ243526 NM_017414 CCDS13752 Q9UMW8 12838346 MGI:1344364 RGD:1359153 607057 C19.030 HGNC:12616 "ENST00000215794.8|NM_017414.4" HGNC:12616 +HGNC:12617 USP19 ubiquitin specific peptidase 19 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "KIAA0891|ZMYND9" ubiquitin specific protease 19 "Zinc fingers MYND-type|Ubiquitin specific peptidases" "87|366" 1999-09-16 2005-08-08 2014-11-19 10869 ENSG00000172046 OTTHUMG00000133611 uc003cwd.3 AB020698 NM_006677 "CCDS56254|CCDS43090|CCDS56256|CCDS56255" O94966 12838346 MGI:1918722 RGD:1303276 614471 C19.024 HGNC:12617 "ENST00000417901.6|NM_001199161.2" +HGNC:12619 USP20 ubiquitin specific peptidase 20 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 KIAA1003 ubiquitin specific protease 20 "Ubiquitin specific peptidases|MicroRNA protein coding host genes" "366|1691" 1999-09-16 2005-08-08 2021-04-13 10868 ENSG00000136878 OTTHUMG00000020793 uc004bys.4 AB023220 NM_001008563 CCDS43892 Q9Y2K6 12838346 MGI:1921520 RGD:1305621 LRG_711|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_711.xml 615143 471306 C19.025 HGNC:12619 "ENST00000372429.8|NM_001110303.4" +HGNC:12620 USP21 ubiquitin specific peptidase 21 protein-coding gene gene with protein product Approved 1q23.3 01q23.3 USP16 USP23 ubiquitin specific protease 21 Ubiquitin specific peptidases 366 2000-06-08 2005-08-08 2016-10-05 27005 ENSG00000143258 OTTHUMG00000033154 uc031vci.2 AF177758 NM_001014443 "CCDS30920|CCDS81392" Q9UK80 "12838346|10799498" MGI:1353665 RGD:1588822 604729 C19.034 HGNC:12620 "ENST00000368002.8|NM_001014443.3" +HGNC:54618 USP21P1 USP21 pseudogene 1 pseudogene pseudogene Approved 2q36.1 02q36.1 2019-10-17 2019-10-17 100420435 ENSG00000224826 NG_023765 +HGNC:54650 USP21P2 USP21 pseudogene 2 pseudogene pseudogene Approved 2p12 02p12 2019-11-08 2019-11-08 100420428 ENSG00000271356 NG_023574 +HGNC:12621 USP22 ubiquitin specific peptidase 22 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 KIAA1063 USP3L "ubiquitin specific protease 22|ubiquitin specific peptidase 3-like" "Ubiquitin specific peptidases|SAGA complex" "366|1059" 1999-12-20 2005-08-08 2014-11-18 23326 ENSG00000124422 OTTHUMG00000133621 uc002gym.4 AB028986 NM_015276 CCDS42285 Q9UPT9 12838346 MGI:2144157 RGD:1310354 612116 C19.035 HGNC:12621 "ENST00000261497.9|NM_015276.2" +HGNC:12623 USP24 ubiquitin specific peptidase 24 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 KIAA1057 ubiquitin specific protease 24 Ubiquitin specific peptidases 366 1999-12-20 2005-08-08 2016-04-25 23358 ENSG00000162402 OTTHUMG00000008135 uc021onw.2 AB028980 NM_015306 CCDS44154 Q9UPU5 12838346 MGI:1919936 RGD:1306799 610569 C19.047 HGNC:12623 "ENST00000294383.7|NM_015306.3" +HGNC:42014 USP24P1 ubiquitin specific peptidase 24 pseudogene 1 pseudogene pseudogene Approved 13q12.11 13q12.11 2011-06-01 2014-11-18 100874248 ENSG00000229375 OTTHUMG00000016474 NG_032390 HGNC:42014 +HGNC:12624 USP25 ubiquitin specific peptidase 25 protein-coding gene gene with protein product Approved 21q21.1 21q21.1 USP21 ubiquitin specific protease 25 Ubiquitin specific peptidases 366 2000-02-10 2005-08-08 2017-01-11 29761 ENSG00000155313 OTTHUMG00000074343 uc002yjy.3 AF170562 NM_001283041 "CCDS63337|CCDS33515|CCDS63336" Q9UHP3 "12838346|10612803" MGI:1353655 RGD:1309003 604736 C19.041 3.4.19.12 HGNC:12624 "ENST00000400183.7|NM_001283041.3" +HGNC:13485 USP26 ubiquitin specific peptidase 26 protein-coding gene gene with protein product Approved Xq26.2 Xq26.2 ubiquitin specific protease 26 Ubiquitin specific peptidases 366 2001-04-26 2005-08-08 2020-04-02 83844 ENSG00000134588 OTTHUMG00000022429 uc010nrm.1 AF285593 NM_031907 CCDS14635 Q9BXU7 12838346 MGI:1933247 RGD:1563443 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/USP26 300309 C19.046 3.4.19.12 HGNC:13485 "ENST00000511190.6|NM_031907.3" +HGNC:13486 USP27X ubiquitin specific peptidase 27 X-linked protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 USP27 "ubiquitin specific protease 27, X chromosome|ubiquitin specific protease 27, X-linked" Ubiquitin specific peptidases 366 2003-09-04 2018-04-26 2021-05-26 389856 ENSG00000273820 OTTHUMG00000189037 uc033edm.2 AW851065 NM_001145073 CCDS65260 A6NNY8 12838346 MGI:1859645 RGD:1564628 300975 468841 3.4.19.12 HGNC:13486 "ENST00000621775.2|NM_001145073.3" HGNC:13486 +HGNC:27249 USP27X-DT USP27X divergent transcript non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 USP27X-AS1 USP27X antisense RNA 1 (head to head) Divergent transcripts 1990 2013-05-17 2020-09-29 2020-09-29 2020-09-29 158572 ENSG00000234390 OTTHUMG00000024154 NR_026742 USP27X-AS1 HGNC:27249 +HGNC:12625 USP28 ubiquitin specific peptidase 28 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 KIAA1515 ubiquitin specific protease 28 Ubiquitin specific peptidases 366 2000-05-26 2005-08-08 2016-10-05 57646 ENSG00000048028 OTTHUMG00000168205 uc001poh.4 AB040948 NM_001301029 "CCDS31680|CCDS86248|CCDS73394" Q96RU2 "12838346|11597335" MGI:2442293 RGD:1311555 610748 C19.054 HGNC:12625 +HGNC:18563 USP29 ubiquitin specific peptidase 29 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ubiquitin specific protease 29 Ubiquitin specific peptidases 366 2002-04-30 2005-08-08 2016-10-25 57663 ENSG00000131864 OTTHUMG00000183101 uc002qny.4 NM_001389643 CCDS33124 Q9HBJ7 12838346 MGI:1888998 RGD:1306648 609546 C19.040 HGNC:18563 "ENST00000254181.9|NM_020903.3" +HGNC:20065 USP30 ubiquitin specific peptidase 30 protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "MGC10702|FLJ40511" ubiquitin specific protease 30 Ubiquitin specific peptidases 366 2003-09-30 2005-08-08 2016-10-05 84749 ENSG00000135093 OTTHUMG00000133613 uc010sxi.3 BC022094 NM_032663 "CCDS76599|CCDS9123" Q70CQ3 12838346 MGI:2140991 RGD:1307949 612492 C19.060 HGNC:20065 "ENST00000257548.10|NM_032663.5" +HGNC:40909 USP30-AS1 USP30 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 12q24.11 12q24.11 USP30 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-18 100131733 ENSG00000256262 OTTHUMG00000169245 uc021rdn.2 NR_038996 USP30-AS1 HGNC:40909 +HGNC:20060 USP31 ubiquitin specific peptidase 31 protein-coding gene gene with protein product Approved 16p12.2 16p12.2 KIAA1203 ubiquitin specific protease 31 Ubiquitin specific peptidases 366 2004-04-05 2005-08-08 2016-10-05 57478 ENSG00000103404 OTTHUMG00000094793 uc002dll.4 AB033029 NM_020718 CCDS10607 Q70CQ4 12838346 MGI:1923429 RGD:1308183 619536 C19.071 HGNC:20060 "ENST00000219689.12|NM_020718.4" +HGNC:19143 USP32 ubiquitin specific peptidase 32 protein-coding gene gene with protein product Approved 17q23.3 17q23.3 "NY-REN-60|USP10" ubiquitin specific protease 32 "Ubiquitin specific peptidases|EF-hand domain containing" "366|863" 2003-05-29 2005-08-08 2014-11-19 84669 ENSG00000170832 OTTHUMG00000180001 uc002iyo.2 AF533230 NM_032582 CCDS32697 Q8NFA0 12838346 MGI:2144475 RGD:1306657 607740 C19.044 HGNC:19143 "ENST00000300896.9|NM_032582.4" +HGNC:43570 USP32P1 ubiquitin specific peptidase 32 pseudogene 1 pseudogene pseudogene Approved 17p11.2 17p11.2 2011-11-09 2015-08-25 162632 ENSG00000188933 OTTHUMG00000186451 NR_003190 HGNC:43570 +HGNC:30751 USP32P2 ubiquitin specific peptidase 32 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 TL132 2011-11-10 2014-03-20 220594 ENSG00000233327 OTTHUMG00000186369 NR_003554 11997339 PGOHUM00000250808 HGNC:30751 +HGNC:43576 USP32P3 ubiquitin specific peptidase 32 pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2011-11-10 2013-02-15 347716 ENSG00000189423 OTTHUMG00000179809 NG_002719 PGOHUM00000250833 HGNC:43576 +HGNC:43577 USP32P4 ubiquitin specific peptidase 32 pseudogene 4 pseudogene pseudogene Approved 17q23.2 17q23.2 2011-11-10 2021-07-02 100874252 ENSG00000263887 NG_032561 PGOHUM00000259193 HGNC:43577 +HGNC:20059 USP33 ubiquitin specific peptidase 33 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "KIAA1097|VDU1" ubiquitin specific protease 33 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2016-10-05 23032 ENSG00000077254 OTTHUMG00000009651 uc001dhu.5 AF383173 NM_015017 "CCDS680|CCDS678|CCDS679" Q8TEY7 12838346 MGI:2159711 RGD:1307848 615146 C19.037 HGNC:20059 "ENST00000370794.7|NM_201624.3" +HGNC:20066 USP34 ubiquitin specific peptidase 34 protein-coding gene gene with protein product Approved 2p15 02p15 "KIAA0570|KIAA0729" ubiquitin specific protease 34 "Ubiquitin specific peptidases|Armadillo like helical domain containing|Small nucleolar RNA protein coding host genes" "366|1492|1835" 2003-09-04 2005-08-08 2016-10-05 9736 ENSG00000115464 OTTHUMG00000152265 uc002sbe.4 AB011142 NM_014709 CCDS42686 Q70CQ2 12838346 MGI:109473 RGD:1565181 615295 471308 C19.067 HGNC:20066 "ENST00000398571.7|NM_014709.4" +HGNC:55262 USP34-DT USP34 divergent transcript non-coding RNA RNA, long non-coding Approved 2p15 02p15 Divergent transcripts 1990 2020-09-27 2020-09-27 105377633 ENSG00000270820 +HGNC:20061 USP35 ubiquitin specific peptidase 35 protein-coding gene gene with protein product Approved 11q14.1 11q14.1 KIAA1372 ubiquitin specific protease 35 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2020-04-01 57558 ENSG00000118369 OTTHUMG00000166492 uc021qny.2 AB037793 NM_020798 CCDS41693 Q9P2H5 12838346 MGI:2685339 RGD:1565984 C19.059 HGNC:20061 "ENST00000529308.6|NM_020798.4" +HGNC:20062 USP36 ubiquitin specific peptidase 36 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "KIAA1453|FLJ12851" ubiquitin specific protease 36 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2020-04-01 57602 ENSG00000055483 OTTHUMG00000177542 uc002jwa.2 AB040886 NM_025090 CCDS32755 Q9P275 12838346 MGI:1919594 RGD:1309937 612543 C19.042 HGNC:20062 "ENST00000449938.7|NM_001385174.1" +HGNC:20063 USP37 ubiquitin specific peptidase 37 protein-coding gene gene with protein product Approved 2q35 02q35 KIAA1594 ubiquitin specific protease 37 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2015-08-26 57695 ENSG00000135913 OTTHUMG00000133113 uc010fvs.1 AB046814 NM_020935 CCDS2418 Q86T82 12838346 MGI:2442483 RGD:2319715 C19.053 HGNC:20063 "ENST00000258399.8|NM_020935.3" +HGNC:55020 USP37P1 USP37 pseudogene 1 pseudogene pseudogene Approved Xq21.32 Xq21.32 2020-05-22 2020-05-22 117981792 ENSG00000270826 NG_070708 +HGNC:20067 USP38 ubiquitin specific peptidase 38 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "KIAA1891|HP43.8KD" ubiquitin specific protease 38 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2016-10-05 84640 ENSG00000170185 OTTHUMG00000161420 uc003ijb.4 AF211481 NM_032557 "CCDS77964|CCDS3758" Q8NB14 12838346 MGI:1922091 RGD:1311974 618322 C19.056 HGNC:20067 "ENST00000307017.9|NM_032557.6" +HGNC:55554 USP38-DT USP38 divergent transcript non-coding RNA RNA, long non-coding Approved 4q31.21 04q31.21 Divergent transcripts 1990 2021-03-26 2021-03-26 121009650 ENSG00000250326 +HGNC:20071 USP39 ubiquitin specific peptidase 39 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "SAD1|CGI-21|SNRNP65" "snRNP assembly defective 1 homolog (S. cerevisiae)|small nuclear ribonucleoprotein 65kDa (U4/U6.U5)" ubiquitin specific protease 39 "Ubiquitin specific peptidases|tri-snRP complex" "366|1506" 2003-09-04 2005-08-08 2021-11-22 10713 ENSG00000168883 OTTHUMG00000153090 uc002sqe.5 AF132955 NM_006590 "CCDS33234|CCDS58717|CCDS74534|CCDS58716" Q53GS9 12838346 MGI:107622 RGD:1308103 611594 HGNC:20071 "ENST00000323701.11|NM_006590.4" +HGNC:20069 USP40 ubiquitin specific peptidase 40 protein-coding gene gene with protein product Approved 2q37.1 02q37.1 FLJ10785 ubiquitin specific protease 40 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2018-11-22 55230 ENSG00000085982 OTTHUMG00000153199 uc010zmr.3 AK001647 NM_018218 CCDS46547 Q9NVE5 12838346 MGI:2443184 RGD:1309613 610570 C19.069 HGNC:20069 "ENST00000678225.2|NM_001365479.2" +HGNC:20070 USP41 ubiquitin specific peptidase 41 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 ubiquitin specific protease 41 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2020-04-20 373856 ENSG00000161133 OTTHUMG00000151317 uc062bsg.1 AJ586979 Q3LFD5 12838346 MGI:1344364 C19.070 HGNC:20070 +HGNC:20068 USP42 ubiquitin specific peptidase 42 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 FLJ12697 ubiquitin specific protease 42 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2018-11-22 84132 ENSG00000106346 OTTHUMG00000151888 uc011jwp.3 AK022759 NM_032172 CCDS47535 Q9H9J4 12838346 MGI:1924050 RGD:1305231 C19.048 HGNC:20068 "ENST00000306177.10|NM_032172.3" +HGNC:20072 USP43 ubiquitin specific peptidase 43 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 FLJ30626 ubiquitin specific protease 43 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2020-04-01 124739 ENSG00000154914 OTTHUMG00000177942 uc010cod.5 AK055188 NM_153210 "CCDS45610|CCDS58516" Q70EL4 12838346 MGI:2444541 RGD:2303824 C19.976 HGNC:20072 "ENST00000285199.12|NM_153210.5" +HGNC:20064 USP44 ubiquitin specific peptidase 44 protein-coding gene gene with protein product Approved 12q22 12q22 FLJ14528 ubiquitin specific protease 44 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2020-04-01 84101 ENSG00000136014 OTTHUMG00000170281 uc001teh.5 AK027434 NM_032147 CCDS9053 Q9H0E7 12838346 MGI:3045318 RGD:1308216 610993 471310 C19.057 HGNC:20064 "ENST00000258499.8|NM_032147.5" +HGNC:20080 USP45 ubiquitin specific peptidase 45 protein-coding gene gene with protein product Approved 6q16.2 06q16.2 MGC14793 ubiquitin specific protease 45 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2021-05-26 85015 ENSG00000123552 OTTHUMG00000015267 uc063qfl.1 AL832030 NM_032929 "CCDS34501|CCDS87419" Q70EL2 12838346 MGI:101850 RGD:1310976 618439 C19.064 HGNC:20080 "ENST00000500704.7|NM_001346022.3" HGNC:20080 +HGNC:20075 USP46 ubiquitin specific peptidase 46 protein-coding gene gene with protein product Approved 4q12 04q12 FLJ12552 ubiquitin specific protease 46 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2015-09-03 64854 ENSG00000109189 OTTHUMG00000160640 uc003gzn.4 AK022614 NM_022832 "CCDS47053|CCDS47054" P62068 12838346 MGI:1916977 RGD:1564808 612849 C19.052 HGNC:20075 "ENST00000441222.8|NM_022832.4" +HGNC:43991 USP46-DT USP46 divergent transcript non-coding RNA RNA, long non-coding Approved 4q12 04q12 USP46-AS1 "USP46 antisense RNA 1 (non-protein coding)|USP46 antisense RNA 1" Divergent transcripts 1990 2012-05-25 2020-01-16 2020-01-16 2020-01-16 643783 ENSG00000248866 OTTHUMG00000160639 uc062wov.1 "BX354350|CN313378" NR_125363 USP46-AS1 HGNC:43991 +HGNC:20076 USP47 ubiquitin specific peptidase 47 protein-coding gene gene with protein product Approved 11p15.3 11p15.3 "Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)|ubiquitin specific protease 47" Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2016-10-05 55031 ENSG00000170242 OTTHUMG00000165685 uc001mjr.4 AK027362 NM_017944 "CCDS41619|CCDS60725|CCDS81554" Q96K76 12838346 MGI:1922246 RGD:1310411 614460 C19.055 HGNC:20076 "ENST00000527733.7|NM_001282659.2" +HGNC:18533 USP48 ubiquitin specific peptidase 48 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "FLJ23277|FLJ11328|FLJ20103|FLJ23054|MGC14879" USP31 "ubiquitin specific protease 31|ubiquitin specific protease 48" Ubiquitin specific peptidases 366 2003-05-29 2004-04-07 2005-08-08 2015-08-26 84196 ENSG00000090686 OTTHUMG00000007798 uc001bfb.4 AF502942 NM_032236 "CCDS30623|CCDS44084|CCDS81277" Q86UV5 12838346 MGI:2158502 RGD:735213 617445 C19.068 HGNC:18533 "ENST00000308271.14|NM_032236.8" HGNC:18533 +HGNC:20078 USP49 ubiquitin specific peptidase 49 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 MGC20741 ubiquitin specific protease 49 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2016-10-05 25862 ENSG00000164663 OTTHUMG00000014688 uc003orh.3 AJ586139 NM_018561 "CCDS69111|CCDS4861" Q70CQ1 14715245 MGI:2685391 RGD:1310513 C19.073 HGNC:20078 "ENST00000682992.1|NM_001286554.2" +HGNC:20079 USP50 ubiquitin specific peptidase 50 protein-coding gene gene with protein product Approved 15q21.1 15q21.1 ubiquitin specific protease 50 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2019-04-16 373509 ENSG00000170236 OTTHUMG00000167591 uc021sky.2 AI990110 NM_203494 CCDS53944 Q70EL3 12838346 MGI:1922333 RGD:1564751 C19.058 HGNC:20079 "ENST00000532404.6|NM_203494.5" +HGNC:23086 USP51 ubiquitin specific peptidase 51 protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 ubiquitin specific protease 51 Ubiquitin specific peptidases 366 2003-09-04 2005-08-08 2020-04-02 158880 ENSG00000247746 OTTHUMG00000021656 uc004dun.3 BF741256 NM_201286 CCDS14370 Q70EK9 12838346 MGI:3588217 RGD:1562211 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/USP51 C19.065 HGNC:23086 "ENST00000500968.4|NM_201286.4" +HGNC:29255 USP53 ubiquitin specific peptidase 53 protein-coding gene gene with protein product Approved 4q26 04q26 KIAA1350 ubiquitin specific protease 53 Ubiquitin specific peptidases 366 2004-01-28 2005-08-08 2018-11-22 54532 ENSG00000145390 OTTHUMG00000161331 uc003icr.5 BC017382 NM_019050 CCDS43265 Q70EK8 "10718198|14715245" MGI:2139607 RGD:1306615 617431 C19.081 HGNC:29255 "ENST00000692078.1|NM_001371395.1" HGNC:29255 +HGNC:23513 USP54 ubiquitin specific peptidase 54 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "FLJ37318|bA137L10.3|bA137L10.4" C10orf29 "chromosome 10 open reading frame 29|ubiquitin specific protease 54" Ubiquitin specific peptidases 366 2003-11-21 2004-01-30 2005-08-08 2016-10-05 159195 ENSG00000166348 OTTHUMG00000018469 uc001juo.4 AJ583820 NM_152586 CCDS7329 Q70EL1 14715245 MGI:1926037 RGD:1303206 C19.080 HGNC:23513 "ENST00000687698.1|NM_001391956.1" +HGNC:20294 USPL1 ubiquitin specific peptidase like 1 protein-coding gene gene with protein product Approved 13q12.3 13q12.3 "bA121O19.1|D13S106E" C13orf22 chromosome 13 open reading frame 22 "Ubiquitin specific peptidases|Ubiquitin specific peptidase like " "366|988" 2004-04-16 2005-11-24 2005-11-24 2015-08-26 10208 ENSG00000132952 OTTHUMG00000016675 uc001utc.3 X59131 NM_005800 "CCDS81760|CCDS9336" Q5W0Q7 22878415 MGI:2442342 RGD:1310835 617470 HGNC:20294 "ENST00000255304.9|NM_005800.5" +HGNC:17223 UST uronyl 2-sulfotransferase protein-coding gene gene with protein product Approved 6q25.1 06q25.1 2OST Sulfotransferases, membrane bound 763 2001-12-07 2016-03-14 2016-03-14 10090 ENSG00000111962 OTTHUMG00000016135 uc003qmg.4 AB020316 NM_005715 CCDS5213 Q9Y2C2 10187838 MGI:2442406 RGD:1304743 610752 HGNC:17223 "ENST00000367463.5|NM_005715.3" +HGNC:40802 UST-AS1 UST antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6q25.1 06q25.1 Antisense RNAs 1987 2015-10-15 2015-10-15 100128176 ENSG00000227660 OTTHUMG00000015777 NR_038408 UST-AS1 HGNC:40802 +HGNC:40803 UST-AS2 UST antisense RNA 2 non-coding RNA RNA, long non-coding Approved 6q25.1 06q25.1 Antisense RNAs 1987 2020-04-16 2020-04-16 105378047 ENSG00000236591 OTTHUMG00000015778 NR_134599 +HGNC:12634 UTF1 undifferentiated embryonic cell transcription factor 1 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 1998-11-04 2016-10-05 8433 ENSG00000171794 OTTHUMG00000019302 uc001lmc.3 AB011076 NM_003577 CCDS31318 Q5T230 "9748258|18281244" MGI:1276125 RGD:1589375 604130 HGNC:12634 "ENST00000304477.3|NM_003577.3" +HGNC:24477 UTP3 UTP3 small subunit processome component protein-coding gene gene with protein product Approved 4q13.3 04q13.3 "FLJ23256|DKFZp761F222|SAS10|CRLZ1" disrupter of silencing 10 UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) SSU processome 1484 2007-08-21 2019-01-22 2019-03-20 57050 ENSG00000132467 OTTHUMG00000129911 uc003hfo.3 AL136590 NM_020368 CCDS3546 Q9NQZ2 28813493 MGI:1919230 RGD:1308540 611614 HGNC:24477 "ENST00000254803.4|NM_020368.3" +HGNC:1983 UTP4 UTP4 small subunit processome component protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "NAIC|FLJ14728|KIAA1988|TEX292|CIRHIN" UTP4, small subunit (SSU) processome component, homolog (yeast) CIRH1A cirrhosis, autosomal recessive 1A (cirhin) "WD repeat domain containing|UTPa subcomplex" "362|1483" 2000-03-15 2015-11-03 2019-01-22 2021-05-26 84916 ENSG00000141076 OTTHUMG00000137570 uc002ews.5 AB075868 NM_032830 CCDS10872 Q969X6 "10820129|20385600" MGI:1096573 RGD:1311341 607456 173184 HGNC:1983 "ENST00000314423.12|NM_032830.3" HGNC:1983 +HGNC:18279 UTP6 UTP6 small subunit processome component protein-coding gene gene with protein product Approved 17q11.2 17q11.2 HCA66 hepatocellular carcinoma associated antigen 66 C17orf40 "chromosome 17 open reading frame 40|UTP6, small subunit (SSU) processome component, homolog (yeast)" UTPb subcomplex 1225 2005-05-24 2006-05-16 2019-01-22 2019-01-22 55813 ENSG00000108651 OTTHUMG00000132815 uc002hgr.4 AF116631 NM_018428 CCDS11269 Q9NYH9 "10843809|16138909|22434888" MGI:2445193 RGD:1311017 HGNC:18279 "ENST00000261708.9|NM_018428.3" +HGNC:24329 UTP11 UTP11 small subunit processome component protein-coding gene gene with protein product Approved 1p34.3 01p34.3 CGI-94 UTP11L UTP11-like, U3 small nucleolar ribonucleoprotein (yeast) SSU processome 1484 2005-06-22 2016-02-25 2019-01-22 2019-01-22 51118 ENSG00000183520 OTTHUMG00000004435 uc001ccn.5 AF151852 NM_016037 CCDS429 Q9Y3A2 "11860508|10810093" MGI:1914455 RGD:621412 609440 HGNC:24329 "ENST00000373014.5|NM_016037.4" +HGNC:10665 UTP14A UTP14A small subunit processome component protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "NY-CO-16|Utp14" SDCCAG16 "serologically defined colon cancer antigen 16|UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)" SSU processome 1484 1999-08-25 2004-06-01 2019-01-22 2019-01-22 10813 ENSG00000156697 OTTHUMG00000022378 uc004euz.4 AF039694 NM_006649 "CCDS55489|CCDS14615" Q9BVJ6 "9610721|16354793|21078665" MGI:1919804 RGD:1359313 300508 HGNC:10665 "ENST00000394422.8|NM_006649.4" +HGNC:20321 UTP14C UTP14C small subunit processome component protein-coding gene gene with protein product Approved 13q14.3 13q14.3 2700066J21Rik KIAA0266 "KIAA0266|UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)" SSU processome 1484 2003-11-21 2004-06-16 2019-01-22 2019-01-22 9724 ENSG00000253797 OTTHUMG00000164353 uc058xgb.1 D87455 NM_021645 CCDS31978 Q5TAP6 "9039502|16354793" "MGI:1919804|MGI:2445092" 608969 HGNC:20321 "ENST00000521776.2|NM_021645.6" +HGNC:25758 UTP15 UTP15 small subunit processome component protein-coding gene gene with protein product Approved 5q13.2 05q13.2 "FLJ12787|NET21|FLJ23637" "UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)|UTP15 SSU processome component" "WD repeat domain containing|UTPa subcomplex" "362|1483" 2005-08-08 2019-01-22 2019-01-22 84135 ENSG00000164338 OTTHUMG00000162453 uc003kcw.3 AL831972 NM_032175 "CCDS68894|CCDS68893|CCDS34186" Q8TED0 "24219289|24754225" MGI:2145443 RGD:1310992 616194 HGNC:25758 "ENST00000296792.9|NM_032175.4" +HGNC:24274 UTP18 UTP18 small subunit processome component protein-coding gene gene with protein product Approved 17q21.33 17q21.33 CGI-48 WDR50 "WD repeat domain 50|UTP18 small subunit (SSU) processome component homolog (yeast)" "WD repeat domain containing|UTPb subcomplex" "362|1225" 2005-02-01 2006-05-16 2019-01-22 2019-01-22 51096 ENSG00000011260 OTTHUMG00000162370 uc002its.4 AF151806 NM_016001 CCDS42362 Q9Y5J1 "10810093|8619474|15590835" MGI:1923402 RGD:1309957 612816 HGNC:24274 "ENST00000225298.12|NM_016001.3" +HGNC:17897 UTP20 UTP20 small subunit processome component protein-coding gene gene with protein product Approved 12q23.2 12q23.2 "DRIM|1A6/DRIM" down regulated in metastasis UTP20, small subunit (SSU) processome component, homolog (yeast) "SSU processome|Armadillo like helical domain containing" "1484|1492" 2006-02-10 2019-01-22 2019-01-22 27340 ENSG00000120800 OTTHUMG00000170270 uc001tia.2 AJ006778 NM_014503 CCDS9081 O75691 "9673349|15590835|17498821" MGI:1917933 RGD:1560606 612822 HGNC:17897 "ENST00000261637.5|NM_014503.3" +HGNC:28224 UTP23 UTP23 small subunit processome component protein-coding gene gene with protein product Approved 8q24.11 08q24.11 MGC14595 C8orf53 "chromosome 8 open reading frame 53|UTP23, small subunit (SSU) processome component, homolog (yeast)" SSU processome 1484 2005-08-16 2008-06-12 2019-01-22 2019-01-22 84294 ENSG00000147679 OTTHUMG00000164958 uc003yoc.4 NM_032334 CCDS6320 Q9BRU9 "16769905|22180534" MGI:1925831 RGD:1307179 HGNC:28224 "ENST00000309822.7|NM_032334.3" +HGNC:28440 UTP25 UTP25 small subunit processome component protein-coding gene gene with protein product Approved 1q32.2 01q32.2 "MGC29875|DEF" "C1orf107|DIEXF" "chromosome 1 open reading frame 107|digestive organ expansion factor homolog (zebrafish)|UTP25, small subunit processor component|UTP25 small subunit processor component" SSU processome 1484 2005-06-03 2018-04-11 2022-03-04 2022-03-04 27042 ENSG00000117597 OTTHUMG00000036654 uc001hhr.3 BC022964 NM_014388 CCDS1493 Q68CQ4 16322560 MGI:2138080 RGD:1359148 619663 HGNC:28440 "ENST00000491415.7|NM_014388.7" +HGNC:12635 UTRN utrophin protein-coding gene gene with protein product Approved 6q24.2 06q24.2 "DRP|DRP1" DMDL utrophin (homologous to dystrophin) Zinc fingers ZZ-type 91 1989-06-30 2006-12-13 2016-10-05 7402 ENSG00000152818 OTTHUMG00000015746 uc003qkt.4 AK023675 NM_001375323 CCDS34547 P46939 1426262 MGI:104631 RGD:3947 128240 HGNC:12635 "ENST00000367545.8|NM_007124.3" HGNC:12635 +HGNC:12636 UTS2 urotensin 2 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 "UII|U-II|UCN2|PRO1068" prepro U-II "Receptor ligands|Neuropeptides" "542|1902" 2000-03-22 2016-10-05 10911 ENSG00000049247 OTTHUMG00000001218 uc001aos.4 AF104118 NM_006786 "CCDS91|CCDS90" O95399 "9861051|10499587" MGI:1346329 RGD:3930 604097 ligandId:2153 HGNC:12636 "ENST00000361696.10|NM_006786.4" +HGNC:30894 UTS2B urotensin 2B protein-coding gene gene with protein product Approved 3q28 03q28 "URP|U2B" prepro-URP UTS2D urotensin 2 domain containing Receptor ligands 542 2005-02-25 2013-02-28 2013-02-28 2014-11-19 257313 ENSG00000188958 OTTHUMG00000156192 uc003fsu.4 AB116021 NM_198152 CCDS3300 Q765I0 14550283 MGI:2677064 RGD:727977 618134 ligandId:2156 HGNC:30894 "ENST00000340524.10|NM_198152.5" +HGNC:4468 UTS2R urotensin 2 receptor protein-coding gene gene with protein product Approved 17q25.3 17q25.3 GPR14 G protein-coupled receptor 14 Peptide receptors 220 1995-08-10 2004-07-13 2004-07-13 2020-04-01 2837 ENSG00000181408 OTTHUMG00000178835 uc010wvl.3 AF140631 NM_018949 CCDS11810 Q9UKP6 "8666380|10499587" MGI:2183450 RGD:621884 600896 objectId:365 HGNC:4468 "ENST00000313135.5|NM_018949.3" +HGNC:12638 UTY ubiquitously transcribed tetratricopeptide repeat containing, Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 "KDM6AL|KDM6C" "ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome|ubiquitously transcribed tetratricopeptide repeat gene, Y-linked" "Lysine demethylases|Tetratricopeptide repeat domain containing|Minor histocompatibility antigens" "485|769|870" 1998-08-05 2012-11-15 2016-11-04 7404 ENSG00000183878 OTTHUMG00000036319 uc004fsx.3 AF000994 NM_182660 "CCDS14783|CCDS14784|CCDS59184|CCDS14785|CCDS76079|CCDS76073|CCDS76074|CCDS76075|CCDS76076|CCDS76077|CCDS76078|CCDS59185" O14607 "8944031|9499428" MGI:894810 400009 HGNC:12638 "ENST00000545955.6|NM_001258249.2" +HGNC:12640 UVRAG UV radiation resistance associated protein-coding gene gene with protein product Approved 11q13.5 11q13.5 VPS38 beclin 1 binding protein UV radiation resistance associated gene "C2 domain containing|PIK3C3 complex subunits" "823|1596" 1997-01-10 2012-11-15 2016-10-05 7405 ENSG00000198382 OTTHUMG00000165319 uc001oxc.4 "X99050|AB012958" NM_003369 CCDS8241 Q9P2Y5 "9169138|16799551|18843052" MGI:1925860 RGD:1589754 602493 HGNC:12640 "ENST00000356136.8|NM_003369.4" +HGNC:53952 UVRAG-DT UVRAG divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.5 11q13.5 LOC100506113 Divergent transcripts 1990 2018-06-20 2018-06-20 100506113 ENSG00000255507 OTTHUMG00000165318 NR_144531 29568943 HGNC:53952 +HGNC:29304 UVSSA UV stimulated scaffold protein A protein-coding gene gene with protein product Approved 4p16.3 04p16.3 KIAA1530 KIAA1530 2007-12-12 2012-04-27 2015-11-13 2021-05-26 57654 ENSG00000163945 OTTHUMG00000160167 uc003gde.5 BC021930 NM_020894 CCDS33938 Q2YD98 "10819331|22466610|22466611|22466612" MGI:1918351 RGD:1306371 614632 302946 HGNC:29304 "ENST00000389851.10|NM_020894.4" HGNC:29304 +HGNC:17729 UXS1 UDP-glucuronate decarboxylase 1 protein-coding gene gene with protein product Approved 2q12.2 02q12.2 "FLJ23591|UGD|SDR6E1" short chain dehydrogenase/reductase family 6E, member 12 Short chain dehydrogenase/reductase superfamily 743 2002-05-01 2015-08-26 80146 ENSG00000115652 OTTHUMG00000153150 uc002tdm.4 AK027244 NM_025076.3 "CCDS46378|CCDS58721|CCDS58720" Q8NBZ7 19027726 MGI:1915133 RGD:628680 609749 4.1.1.35 HGNC:17729 "ENST00000283148.12|NM_001253875.2" +HGNC:12641 UXT ubiquitously expressed prefoldin like chaperone protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "ART-27|STAP1" "androgen receptor trapped clone 27|SKP2-associated alpha PFD 1" "ubiquitously-expressed transcript|ubiquitously-expressed, prefoldin-like chaperone" Prefoldin subunits 956 1998-09-03 2015-11-10 2016-10-05 8409 ENSG00000126756 OTTHUMG00000021453 uc004din.4 AF092737 NM_153477 "CCDS14285|CCDS14284" Q9UBK9 "10087202|16221885" MGI:1277988 RGD:1359326 300234 471164 HGNC:12641 "ENST00000335890.3|NM_153477.3" +HGNC:49239 UXT-AS1 UXT antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 Antisense RNAs 1987 2013-10-11 2013-10-11 100133957 ENSG00000267064 OTTHUMG00000180159 NR_028119 UXT-AS1 HGNC:49239 +HGNC:25507 VAC14 VAC14 component of PIKFYVE complex protein-coding gene gene with protein product Approved 16q22.1-q22.2 16q22.1-q22.2 "FLJ10305|ArPIKfyve" TAX1BP2 "Tax1 (human T-cell leukemia virus type I) binding protein 2|Vac14 homolog (S. cerevisiae)|Vac14, PIKFYVE complex component" Armadillo like helical domain containing 1492 2005-02-09 2019-04-15 2021-05-26 55697 ENSG00000103043 OTTHUMG00000137583 uc002ezm.4 AK056433 NM_018052 CCDS10896 Q08AM6 "15542851|12719380" MGI:2157980 RGD:631410 604632 HGNC:25507 "ENST00000261776.10|NM_018052.5" HGNC:25507 +HGNC:48605 VAC14-AS1 VAC14 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q22.1 16q22.1 Antisense RNAs 1987 2013-05-24 2016-10-05 100130894 ENSG00000214353 OTTHUMG00000177027 "AK095020|DB487352" NR_034083 VAC14-AS1 HGNC:48605 +HGNC:12642 VAMP1 vesicle associated membrane protein 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 VAMP-1 SYB1 synaptobrevin 1 Vesicle associated membrane proteins 12 1990-03-14 2015-11-05 2021-05-26 6843 ENSG00000139190 OTTHUMG00000168269 uc001qok.4 NM_001297438 "CCDS44809|CCDS73422|CCDS41740|CCDS31731" P23763 1976629 MGI:1313276 RGD:3948 185880 314894 HGNC:12642 "ENST00000396308.4|NM_014231.5" HGNC:12642 +HGNC:12643 VAMP2 vesicle associated membrane protein 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 VAMP-2 SYB2 synaptobrevin 2 Vesicle associated membrane proteins 12 1990-03-14 2015-11-05 2021-05-26 6844 ENSG00000220205 OTTHUMG00000150254 uc010cnt.2 NM_001330125 "CCDS32561|CCDS82064" P63027 1976629 MGI:1313277 RGD:3949 185881 HGNC:12643 "ENST00000316509.11|NM_014232.3" HGNC:12643 +HGNC:12644 VAMP3 vesicle associated membrane protein 3 protein-coding gene gene with protein product Approved 1p36.23 01p36.23 CEB cellubrevin Vesicle associated membrane proteins 12 1999-07-22 2015-11-05 2015-11-05 9341 ENSG00000049245 OTTHUMG00000001225 uc001aol.3 BC003570 NM_004781 CCDS88 Q15836 9885218 MGI:1321389 RGD:61880 603657 HGNC:12644 "ENST00000054666.11|NM_004781.4" +HGNC:12645 VAMP4 vesicle associated membrane protein 4 protein-coding gene gene with protein product Approved 1q24.3 01q24.3 Vesicle associated membrane proteins 12 1998-11-30 2015-11-05 2016-10-05 8674 ENSG00000117533 OTTHUMG00000034788 uc001ghx.3 AF044310 NM_003762 "CCDS53430|CCDS1298" O75379 9553086 MGI:1858730 RGD:1309753 606909 HGNC:12645 "ENST00000236192.12|NM_003762.5" +HGNC:12646 VAMP5 vesicle associated membrane protein 5 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 myobrevin Vesicle associated membrane proteins 12 1999-07-22 2015-11-05 2015-11-05 10791 ENSG00000168899 OTTHUMG00000130169 uc002spu.2 AF054825 NM_006634 CCDS1980 O95183 9725904 MGI:1858622 RGD:620419 607029 HGNC:12646 "ENST00000306384.5|NM_006634.3" +HGNC:11486 VAMP7 vesicle associated membrane protein 7 protein-coding gene gene with protein product Approved Xq28 and Yq12 Xq28 and Yq12 "VAMP-7|TI-VAMP" SYBL1 synaptobrevin-like 1 "Vesicle associated membrane proteins|Pseudoautosomal region 2" "12|716" 1996-06-21 2007-12-05 2015-11-05 2020-04-02 6845 ENSG00000124333 OTTHUMG00000022679 uc004fxj.4 AJ295938 NM_005638 "CCDS55548|CCDS48199|CCDS14770" P51809 "8640232|11440841" MGI:1096399 RGD:621558 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VAMP7 300053 410540 HGNC:11486 "ENST00000286448.12|NM_005638.6" +HGNC:12647 VAMP8 vesicle associated membrane protein 8 protein-coding gene gene with protein product Approved 2p11.2 02p11.2 "EDB|VAMP-8" endobrevin Vesicle associated membrane proteins 12 1998-11-30 2015-11-05 2021-09-09 8673 ENSG00000118640 OTTHUMG00000130180 uc002spt.5 AF053233 NM_003761 CCDS1979 Q9BV40 "9878266|9614193" MGI:1336882 RGD:620421 603177 HGNC:12647 "ENST00000263864.10|NM_003761.5" +HGNC:53817 VAMP9P vesicle associated membrane protein 9, pseudogene pseudogene pseudogene Approved 4q21.22 04q21.22 TCONS_00008138 Vesicle associated membrane proteins 12 2018-02-27 2018-04-23 105377307 ENSG00000284516 OTTHUMG00000191884 XR_938934 25210130 MGI:5595070 +HGNC:15512 VANGL1 VANGL planar cell polarity protein 1 protein-coding gene gene with protein product Approved 1p13.1 01p13.1 STB2 "vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)|vang-like 1 (van gogh, Drosophila)" 2001-04-06 2013-03-05 2021-05-26 81839 ENSG00000173218 OTTHUMG00000011971 uc001efv.1 AB075805 NM_001172411 "CCDS53350|CCDS883" Q8TAA9 "11956595|12011995" MGI:2159344 RGD:1597324 610132 138557 HGNC:15512 "ENST00000355485.7|NM_138959.3" HGNC:15512 +HGNC:15511 VANGL2 VANGL planar cell polarity protein 2 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "KIAA1215|LTAP|LPP1|STBM|STB1|STBM1|MGC119403|MGC119404" "vang, van gogh-like 2|loop-tail-associated protein|strabismus" "vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)|vang-like 2 (van gogh, Drosophila)" 2001-04-06 2013-03-05 2016-01-15 57216 ENSG00000162738 OTTHUMG00000033122 uc001fwc.3 AB033041 NM_020335 CCDS30915 Q9ULK5 11431695 MGI:2135272 RGD:1309442 600533 283988 HGNC:15511 "ENST00000368061.3|NM_020335.3" HGNC:15511 +HGNC:12648 VAPA VAMP associated protein A protein-coding gene gene with protein product Approved 18p11.22 18p11.22 "hVAP-33|VAP-A" "VAMP (vesicle-associated membrane protein)-associated protein A (33kD)|VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa" 1999-03-19 2015-11-09 2016-10-05 9218 ENSG00000101558 OTTHUMG00000131603 uc002kok.4 NM_003574 "CCDS11847|CCDS11848" Q9P0L0 "9920726|9657962" MGI:1353561 RGD:61803 605703 HGNC:12648 "ENST00000400000.7|NM_194434.3" +HGNC:12649 VAPB VAMP associated protein B and C protein-coding gene gene with protein product Approved 20q13.32 20q13.32 "VAP-B|VAP-C|ALS8" VAMP (vesicle-associated membrane protein)-associated protein B and C 1999-03-19 2016-06-17 2021-05-26 9217 ENSG00000124164 OTTHUMG00000032840 uc002xza.4 AF086628 NM_001195677 "CCDS56198|CCDS33498" O95292 9920726 MGI:1928744 RGD:68326 "ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/|LRG_656|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_656.xml" 605704 120453 HGNC:12649 "ENST00000475243.6|NM_004738.5" HGNC:12649 +HGNC:12651 VARS1 valyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 valine tRNA ligase 1, cytoplasmic "VARS2|VARS" "valyl-tRNA synthetase 2|valyl-tRNA synthetase" Aminoacyl tRNA synthetases, Class I 131 1991-08-18 2019-07-15 2019-07-15 2021-05-26 7407 ENSG00000204394 OTTHUMG00000031286 uc011gfl.3 BC012808 NM_006295 CCDS34412 P26640 15779907 MGI:90675 RGD:3950 192150 6.1.1.9 HGNC:12651 "ENST00000375663.8|NM_006295.3" HGNC:12651 +HGNC:21642 VARS2 valyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "DKFZP434L1435|KIAA1885|G7a" valine tRNA ligase 2, mitochondrial "VARS2L|VARSL" "valyl-tRNA synthetase 2-like|valyl-tRNA synthetase like|valyl-tRNA synthetase 2, mitochondrial (putative)" Aminoacyl tRNA synthetases, Class I 131 2003-07-02 2007-02-23 2012-10-26 2021-05-26 57176 ENSG00000137411 OTTHUMG00000031263 uc003nsc.3 AB067472 NM_020442 "CCDS54981|CCDS54980|CCDS34387" Q5ST30 "1898367|11572484|18400783" MGI:1916165 RGD:1303122 612802 432047 6.1.1.9 HGNC:21642 "ENST00000676266.1|NM_020442.6" HGNC:21642 +HGNC:19964 VASH1 vasohibin 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 KIAA1036 KIAA1036 2003-11-21 2005-08-16 2005-08-16 2015-07-22 22846 ENSG00000071246 OTTHUMG00000171493 uc001xst.3 AB028959 NM_014909 CCDS9851 Q7L8A9 MGI:2442543 RGD:1564082 609011 HGNC:19964 "ENST00000167106.9|NM_014909.5" +HGNC:53215 VASH1-AS1 VASH1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Antisense RNAs 1987 2017-03-21 2017-03-21 100506603 ENSG00000258301 OTTHUMG00000171623 NR_104184 HGNC:53215 +HGNC:55446 VASH1-DT VASH1 divergent transcript non-coding RNA RNA, long non-coding Approved 14q24.3 14q24.3 Divergent transcripts 1990 2021-01-14 2021-01-14 120766139 ENSG00000258569 +HGNC:25723 VASH2 vasohibin 2 protein-coding gene gene with protein product Approved 1q32.3 01q32.3 FLJ12505 2006-07-04 2016-10-05 79805 ENSG00000143494 OTTHUMG00000036925 uc001hjw.4 AK022567 NM_024749 "CCDS73026|CCDS44316|CCDS44315|CCDS1511" Q86V25 16528006 MGI:2444826 RGD:1564105 610471 HGNC:25723 "ENST00000517399.3|NM_001301056.2" +HGNC:18517 VASN vasorin protein-coding gene gene with protein product Approved 16p13.3 16p13.3 SLITL2 slit-like 2 (Drosophila) 2005-01-26 2006-03-30 2006-03-30 2014-11-19 114990 ENSG00000168140 OTTHUMG00000129469 uc002cwj.1 AY358299 NM_138440 CCDS10514 Q6EMK4 15247411 MGI:2177651 RGD:1598149 608843 HGNC:18517 "ENST00000304735.4|NM_138440.3" +HGNC:12652 VASP vasodilator stimulated phosphoprotein protein-coding gene gene with protein product Approved 19q13.32 19q13.32 vasodilator-stimulated phosphoprotein ENAH/VASPs 946 1996-06-07 2017-06-13 2017-06-13 7408 ENSG00000125753 OTTHUMG00000182124 uc002pcg.4 NM_003370 CCDS33051 P50552 8812448 MGI:109268 RGD:1311542 601703 HGNC:12652 "ENST00000245932.11|NM_003370.4" +HGNC:16919 VAT1 vesicle amine transport 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "VATI|FLJ20230" vesicle amine transport protein 1 homolog (T. californica) 2002-08-15 2013-08-23 2015-07-22 10493 ENSG00000108828 OTTHUMG00000180816 uc002icm.2 U18009 NM_006373 CCDS11451 Q99536 "7774926|8938427" MGI:1349450 RGD:1308943 604631 HGNC:16919 "ENST00000355653.8|NM_006373.4" +HGNC:29315 VAT1L vesicle amine transport 1 like protein-coding gene gene with protein product Approved 16q23.1 16q23.1 KIAA1576 "vesicle amine transport protein 1 homolog (T. californica)-like|vesicle amine transport 1-like" 2008-09-15 2016-07-19 2016-07-19 57687 ENSG00000171724 OTTHUMG00000176845 uc002ffg.2 AB046796 NM_020927 CCDS32492 Q9HCJ6 10997877 MGI:2142534 RGD:1598315 HGNC:29315 "ENST00000302536.3|NM_020927.3" +HGNC:12657 VAV1 vav guanine nucleotide exchange factor 1 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 VAV "vav 1 oncogene|vav 1 guanine nucleotide exchange factor" "Pleckstrin homology domain containing|Dbl family Rho GEFs|SH2 domain containing" "682|722|741" 1991-03-04 2015-11-27 2015-11-27 7409 ENSG00000141968 OTTHUMG00000181965 uc010xjh.3 NM_001258206 "CCDS59342|CCDS59341|CCDS12174" P15498 9438848 MGI:98923 RGD:3951 164875 HGNC:12657 "ENST00000602142.6|NM_005428.4" +HGNC:12658 VAV2 vav guanine nucleotide exchange factor 2 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "vav 2 oncogene|vav 2 guanine nucleotide exchange factor" "Pleckstrin homology domain containing|Dbl family Rho GEFs|SH2 domain containing" "682|722|741" 1994-07-15 2015-11-27 2016-10-05 7410 ENSG00000160293 OTTHUMG00000020882 uc004cer.4 NM_001134398 "CCDS6979|CCDS48053" P52735 7762982 MGI:102718 RGD:1306285 600428 HGNC:12658 "ENST00000371850.8|NM_001134398.2" +HGNC:12659 VAV3 vav guanine nucleotide exchange factor 3 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 "vav 3 oncogene|vav 3 guanine nucleotide exchange factor" "Pleckstrin homology domain containing|Dbl family Rho GEFs|SH2 domain containing|MicroRNA protein coding host genes" "682|722|741|1691" 1999-07-07 2015-11-27 2015-11-27 10451 ENSG00000134215 OTTHUMG00000010995 uc001dvk.2 AF118886 NM_006113 "CCDS44181|CCDS785" Q9UKW4 MGI:1888518 RGD:1565941 605541 HGNC:12659 "ENST00000370056.9|NM_006113.5" +HGNC:40608 VAV3-AS1 VAV3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p13.3 01p13.3 VAV3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-02-24 2012-08-15 2021-07-23 100873946 ENSG00000230489 OTTHUMG00000010994 uc031pnj.1 "AA425131|BG193383" NR_046653 VAV3-AS1 HGNC:40608 +HGNC:12660 VAX1 ventral anterior homeobox 1 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 NKL subclass homeoboxes and pseudogenes 519 1999-08-27 2021-05-26 11023 ENSG00000148704 OTTHUMG00000019117 uc009xyx.4 AK127095 NM_001112704 "CCDS44483|CCDS7597" Q5SQQ9 "9636075|10485894" MGI:1277163 RGD:621132 604294 8523 471314 HGNC:12660 "ENST00000369206.6|NM_001112704.2" HGNC:12660 +HGNC:12661 VAX2 ventral anterior homeobox 2 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 DRES93 NKL subclass homeoboxes and pseudogenes 519 1999-11-16 2014-11-19 25806 ENSG00000116035 OTTHUMG00000129714 uc002shh.4 Y17791 NM_012476 CCDS1911 Q9UIW0 10485894 MGI:1346018 RGD:621133 604295 8524 HGNC:12661 "ENST00000234392.3|NM_012476.3" +HGNC:12662 VBP1 VHL binding protein 1 protein-coding gene gene with protein product Approved Xq28 Xq28 "PFD3|PFDN3" prefoldin 3 von Hippel-Lindau binding protein 1 Prefoldin subunits 956 1997-07-25 2016-05-20 2020-04-02 7411 ENSG00000155959 OTTHUMG00000022666 uc004fnc.4 U56833 NM_001303543 "CCDS78525|CCDS14765" P61758 "8674032|9339366" MGI:1333804 RGD:1590535 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VBP1 300133 HGNC:12662 "ENST00000286428.7|NM_003372.7" +HGNC:12663 VCAM1 vascular cell adhesion molecule 1 protein-coding gene gene with protein product Approved 1p21.2 01p21.2 CD106 "CD molecules|Receptor ligands|C2-set domain containing|I-set domain containing|Ig-like cell adhesion molecule family" "471|542|592|593|1410" 1991-07-10 2016-10-05 7412 ENSG00000162692 OTTHUMG00000010982 uc001dti.5 M60335 NM_001078 "CCDS55617|CCDS774|CCDS773" P19320 MGI:98926 RGD:3952 192225 ligandId:6758 CD106 HGNC:12663 "ENST00000294728.7|NM_001078.4" +HGNC:2464 VCAN versican protein-coding gene gene with protein product Approved 5q14.2-q14.3 05q14.2-q14.3 PG-M versican proteoglycan CSPG2 chondroitin sulfate proteoglycan 2 "Hyalectan proteoglycans|V-set domain containing|Sushi domain containing|C-type lectin domain containing" "574|590|1179|1298" 1991-07-18 2007-02-15 2007-02-15 2021-05-26 1462 ENSG00000038427 OTTHUMG00000131321 uc003kii.4 X15998 NM_004385 "CCDS47242|CCDS4060|CCDS54876|CCDS54875" P13611 "1478664|21063030" MGI:102889 RGD:619940 118661 120457 HGNC:2464 "ENST00000265077.8|NM_004385.5" HGNC:2464 +HGNC:40163 VCAN-AS1 VCAN antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q14.3 05q14.3 VCAN antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-23 2012-08-15 2020-04-20 105379054 ENSG00000249835 OTTHUMG00000162571 uc063fbx.1 NR_136215 HGNC:40163 +HGNC:12665 VCL vinculin protein-coding gene gene with protein product Approved 10q22.2 10q22.2 metavinculin 1990-09-10 2021-04-13 7414 ENSG00000035403 OTTHUMG00000018498 uc001jwd.4 M33308 "NM_003373|NM_014000" "CCDS7340|CCDS7341" P18206 1339348 MGI:98927 RGD:1311217 LRG_383|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_383.xml 193065 159087 HGNC:12665 "ENST00000211998.10|NM_014000.3" HGNC:12665 +HGNC:12666 VCP valosin containing protein protein-coding gene gene with protein product Approved 9p13.3 09p13.3 "IBMPFD|p97|CDC48|TERA" transitional endoplasmic reticulum ATPase valosin-containing protein AAA ATPases 413 1996-08-22 2011-01-25 2021-04-13 7415 ENSG00000165280 OTTHUMG00000019855 uc003zvy.3 AC004472 NM_007126 CCDS6573 P55072 "8595912|7553851|23652004" MGI:99919 RGD:621595 LRG_657|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_657.xml 601023 120461 HGNC:12666 "ENST00000358901.11|NM_007126.5" HGNC:12666 +HGNC:30897 VCPIP1 valosin containing protein interacting protein 1 protein-coding gene gene with protein product Approved 8q13.1 08q13.1 "VCIP135|KIAA1850|FLJ23132|DUBA3" valosin containing protein (p97)/p47 complex interacting protein 1 OTU domain containing 669 2005-02-22 2016-05-23 2016-10-05 80124 ENSG00000175073 OTTHUMG00000164560 uc003xwn.4 AB058753 NM_025054 CCDS6192 Q96JH7 "11347906|12509440" MGI:1917925 RGD:708520 611745 C64.006 HGNC:30897 "ENST00000310421.5|NM_025054.5" +HGNC:20352 VCPKMT valosin containing protein lysine methyltransferase protein-coding gene gene with protein product Approved 14q21.3 14q21.3 VCP-KMT "C14orf138|METTL21D" "chromosome 14 open reading frame 138|methyltransferase like 21D|valosin containing protein lysine (K) methyltransferase" 7BS protein lysine methyltransferases 2056 2003-01-28 2013-09-30 2016-01-05 2021-09-03 79609 ENSG00000100483 OTTHUMG00000029531 AK023982 NM_024558 "CCDS41951|CCDS9696" Q9H867 22948820 MGI:2684917 RGD:7565188 615260 HGNC:20352 "ENST00000395860.7|NM_024558.3" +HGNC:12667 VCX variable charge X-linked protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 "VCX1|VCX10R|VCX-10r|VCX-B1" variable charge, X chromosome Variable charge X/Y family 368 2000-03-03 2018-04-26 2018-04-26 26609 ENSG00000182583 OTTHUMG00000028608 uc004crz.3 AF167081 NM_013452 CCDS14128 Q9H320 "10607842|10903929" 300229 HGNC:12667 "ENST00000688183.1|NM_001393662.1" +HGNC:18158 VCX2 variable charge X-linked 2 protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 "VCX-2r|VCX-2R" Variable charge X/Y family 368 2004-04-16 2018-04-26 2018-04-26 51480 ENSG00000177504 OTTHUMG00000021105 uc004csb.3 AF159127 NM_016378 CCDS35200 Q9H322 10607842 300532 HGNC:18158 "ENST00000317103.5|NM_016378.3" +HGNC:18159 VCX3A variable charge X-linked 3A protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 "VCX-8r|VCX-8R|VCX-A" VCX3 variable charge, X-linked 3 Variable charge X/Y family 368 2004-04-16 2005-01-12 2018-04-26 2018-04-26 51481 ENSG00000169059 OTTHUMG00000021097 uc004crs.3 AF159128 NM_016379 CCDS35199 Q9NNX9 10607842 300533 HGNC:18159 "ENST00000381089.7|NM_016379.4" +HGNC:31838 VCX3B variable charge X-linked 3B protein-coding gene gene with protein product Approved Xp22.31 Xp22.31 VCX-C Variable charge X/Y family 368 2005-01-11 2018-04-26 2018-04-26 425054 ENSG00000205642 OTTHUMG00000021106 uc011mht.3 NM_001001888 CCDS48077 Q9H321 300981 HGNC:31838 "ENST00000381032.6|NM_001001888.4" +HGNC:12668 VCY variable charge Y-linked protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 "BPY1|VCY1A|VCY1" variable charge, Y chromosome Variable charge X/Y family 368 1999-04-27 2018-04-30 2018-04-30 9084 ENSG00000129864 OTTHUMG00000036401 uc004ftc.4 AF000979 NM_004679 CCDS56617 O14598 9381176 400012 HGNC:12668 "ENST00000250825.5|NM_004679.4" +HGNC:31751 VCY1B variable charge Y-linked 1B protein-coding gene gene with protein product Approved Yq11.221 Yq11.221 BPY1B Variable charge X/Y family 368 2004-07-15 2018-04-30 2018-04-30 353513 ENSG00000129862 OTTHUMG00000036402 uc004ftd.4 BC056508 NM_181880 CCDS56618 O14598 400050 HGNC:31751 "ENST00000250823.5|NM_181880.2" +HGNC:12669 VDAC1 voltage dependent anion channel 1 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 "MGC111064|PORIN" Voltage dependent anion channels 306 1993-11-02 2016-01-14 2016-10-05 7416 ENSG00000213585 OTTHUMG00000129118 uc003kyr.3 NM_001401008 CCDS4168 P21796 7517385 MGI:106919 RGD:621575 604492 HGNC:12669 "ENST00000265333.8|NM_003374.3" +HGNC:12671 VDAC1P1 voltage dependent anion channel 1 pseudogene 1 pseudogene pseudogene Approved Xq21.1 Xq21.1 VDAC1P voltage-dependent anion channel 1 pseudogene 1999-05-21 2009-10-23 2016-01-14 2016-01-14 642585 ENSG00000073905 OTTHUMG00000021909 AJ002428 NG_001224 7517385 PGOHUM00000241872 HGNC:12671 +HGNC:12670 VDAC1P2 voltage dependent anion channel 1 pseudogene 2 pseudogene pseudogene Approved Xp11.23 Xp11.23 VDAC1LP voltage-dependent anion channel 1-like pseudogene 1999-05-21 2009-10-23 2016-01-14 2016-01-14 10064 ENSG00000213856 OTTHUMG00000024151 AJ012218 NG_001223 7517385 PGOHUM00000241291 HGNC:12670 +HGNC:37478 VDAC1P3 voltage dependent anion channel 1 pseudogene 3 pseudogene pseudogene Approved Xq21.31 Xq21.31 2009-10-23 2016-01-14 2016-01-14 100310838 ENSG00000234702 OTTHUMG00000021963 NG_013287 PGOHUM00000304754 HGNC:37478 +HGNC:12675 VDAC1P4 voltage dependent anion channel 1 pseudogene 4 pseudogene pseudogene Approved 1q25.3 01q25.3 "VDAC4|VDAC4P" "voltage-dependent anion channel 4|voltage-dependent anion channel 4 pseudogene" 1994-04-18 2009-10-23 2016-01-14 2016-10-05 7418 ENSG00000235060 OTTHUMG00000035114 S75651 NG_007502 7517385 610030 PGOHUM00000245106 HGNC:12675 +HGNC:12676 VDAC1P5 voltage dependent anion channel 1 pseudogene 5 pseudogene pseudogene Approved 12q13.2 12q13.2 "VDAC3|VDAC5P" voltage-dependent anion channel 5, pseudogene 1994-04-18 2009-10-23 2016-01-14 2016-01-14 10187 ENSG00000270858 OTTHUMG00000169848 S75494 NG_000882 7517385 PGOHUM00000239465 HGNC:12676 +HGNC:37481 VDAC1P6 voltage dependent anion channel 1 pseudogene 6 pseudogene pseudogene Approved Yp11.2 Yp11.2 2009-10-23 2016-01-14 2016-01-14 359800 ENSG00000231341 OTTHUMG00000035151 NG_002825 PGOHUM00000305420 HGNC:37481 +HGNC:37482 VDAC1P7 voltage dependent anion channel 1 pseudogene 7 pseudogene pseudogene Approved 3p12.3 03p12.3 2009-10-23 2016-01-14 2016-01-14 100310839 ENSG00000213450 OTTHUMG00000158867 NG_013290 PGOHUM00000237665 HGNC:37482 +HGNC:37483 VDAC1P8 voltage dependent anion channel 1 pseudogene 8 pseudogene pseudogene Approved 6q24.2 06q24.2 2009-10-23 2016-01-14 2016-01-14 100310840 ENSG00000229036 OTTHUMG00000015727 NG_013291 PGOHUM00000243802 HGNC:37483 +HGNC:37484 VDAC1P9 voltage dependent anion channel 1 pseudogene 9 pseudogene pseudogene Approved 1q23.1 01q23.1 2009-10-23 2016-01-14 2016-01-14 391106 ENSG00000232366 OTTHUMG00000019397 NG_013292 PGOHUM00000295914 HGNC:37484 +HGNC:37479 VDAC1P10 voltage dependent anion channel 1 pseudogene 10 pseudogene pseudogene Approved 1q41 01q41 2009-10-23 2016-01-14 2016-01-14 643536 ENSG00000232809 OTTHUMG00000037013 NG_013293 PGOHUM00000245206 HGNC:37479 +HGNC:37480 VDAC1P11 voltage dependent anion channel 1 pseudogene 11 pseudogene pseudogene Approved 9q22.32 09q22.32 2009-10-23 2016-01-14 2016-01-14 100310841 ENSG00000237679 OTTHUMG00000020261 NG_013294 PGOHUM00000236268 HGNC:37480 +HGNC:39680 VDAC1P12 voltage dependent anion channel 1 pseudogene 12 pseudogene pseudogene Approved 13q13.2 13q13.2 2011-03-22 2016-01-14 2016-01-14 100874289 ENSG00000227254 OTTHUMG00000016717 NG_032346 PGOHUM00000248358 HGNC:39680 +HGNC:50515 VDAC1P13 voltage dependent anion channel 1 pseudogene 13 pseudogene pseudogene Approved 2p21 02p21 2014-05-16 2016-01-14 2016-01-14 100420568 ENSG00000232526 OTTHUMG00000152314 NG_023558 PGOHUM00000240022 HGNC:50515 +HGNC:12672 VDAC2 voltage dependent anion channel 2 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 Voltage dependent anion channels 306 1993-11-02 2016-01-14 2016-10-05 7417 ENSG00000165637 OTTHUMG00000018517 uc021ptp.3 BC000165 NM_003375 "CCDS7348|CCDS53544" P45880 "7517385|10049775" MGI:106915 RGD:621576 193245 HGNC:12672 "ENST00000332211.11|NM_001391963.1" +HGNC:12673 VDAC2P1 VDAC2 pseudogene 1 pseudogene pseudogene Approved 21q21.1 21q21.1 VDAC2P "voltage-dependent anion channel 2 pseudogene|voltage dependent anion channel 2 pseudogene 1" 2000-05-23 2009-10-23 2020-01-08 2020-01-08 54015 ENSG00000214976 OTTHUMG00000074376 NG_000899 PGOHUM00000297222 HGNC:12673 +HGNC:32693 VDAC2P2 VDAC2 pseudogene 2 pseudogene pseudogene Approved 12p13.31 12p13.31 voltage dependent anion channel 2 pseudogene 2 2006-04-11 2020-01-08 2020-04-20 643996 ENSG00000255776 OTTHUMG00000168287 NG_021271 PGOHUM00000291534 HGNC:32693 +HGNC:51931 VDAC2P3 VDAC2 pseudogene 3 pseudogene pseudogene Approved 1p12 01p12 voltage dependent anion channel 2 pseudogene 3 2015-10-06 2020-01-08 2020-01-08 401959 ENSG00000213262 OTTHUMG00000013704 NG_021270 PGOHUM00000295805 HGNC:51931 +HGNC:51932 VDAC2P4 VDAC2 pseudogene 4 pseudogene pseudogene Approved 2q21.3 02q21.3 voltage dependent anion channel 2 pseudogene 4 2015-10-06 2020-01-08 2020-01-08 100420574 ENSG00000234682 OTTHUMG00000153732 NG_023731 PGOHUM00000298736 HGNC:51932 +HGNC:54753 VDAC2P5 VDAC2 pseudogene 5 pseudogene pseudogene Approved 2p14 02p14 2020-01-08 2020-01-08 729317 ENSG00000172974 NG_016635 +HGNC:12674 VDAC3 voltage dependent anion channel 3 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 HD-VDAC3 Voltage dependent anion channels 306 1999-05-28 2016-01-14 2016-01-14 7419 ENSG00000078668 OTTHUMG00000164168 uc003xpc.4 AF038962 NM_001135694 "CCDS6131|CCDS47850" Q9Y277 "9653160|9781040" MGI:106922 RGD:621577 610029 HGNC:12674 "ENST00000022615.9|NM_005662.7" +HGNC:20722 VDAC3P1 voltage dependent anion channel 3 pseudogene 1 pseudogene pseudogene Approved 14q32.2 14q32.2 VDAC3P voltage-dependent anion channel 3 pseudogene 2003-03-24 2009-10-23 2016-01-14 2020-04-20 341965 ENSG00000271198 OTTHUMG00000184603 NG_022864 PGOHUM00000248265 HGNC:20722 +HGNC:12679 VDR vitamin D receptor protein-coding gene gene with protein product Approved 12q13.11 12q13.11 "NR1I1|PPP1R163" "protein phosphatase 1, regulatory subunit 163|1,25- dihydroxyvitamin D3 receptor" vitamin D (1,25- dihydroxyvitamin D3) receptor "Protein phosphatase 1 regulatory subunits|Nuclear receptor subfamily 1 group I" "694|2084" 1989-06-30 2017-05-04 2021-05-26 7421 ENSG00000111424 OTTHUMG00000169890 uc058ndj.1 J03258 NM_000376 "CCDS8757|CCDS55820" P11473 1662663 MGI:103076 RGD:3959 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 601769 120464 objectId:605 HGNC:12679 "ENST00000549336.6|NM_000376.3" HGNC:12679 +HGNC:12680 VEGFA vascular endothelial growth factor A protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "VEGF-A|VPF" VEGF vascular endothelial growth factor VEGF family 1267 1994-01-10 2006-10-31 2006-10-31 2016-10-05 7422 ENSG00000112715 OTTHUMG00000014745 uc063oun.1 AB021221 NM_001025366 "CCDS34458|CCDS47432|CCDS47434|CCDS34457|CCDS47433|CCDS55007|CCDS55008|CCDS55009|CCDS55010|CCDS47435|CCDS55011|CCDS55012|CCDS55013|CCDS55014|CCDS55015|CCDS4907|CCDS69125" P15692 8786112 MGI:103178 RGD:619991 ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database|http://alsod.iop.kcl.ac.uk/ 192240 471316 ligandId:5085 HGNC:12680 "ENST00000672860.3|NM_003376.6" +HGNC:12681 VEGFB vascular endothelial growth factor B protein-coding gene gene with protein product Approved 11q13.1 11q13.1 VEGFL VRF VEGF family 1267 1996-10-26 2015-07-22 7423 ENSG00000173511 OTTHUMG00000167813 uc001nyx.4 BC008818 NM_003377 "CCDS8062|CCDS58144" P49765 "8637916|8919691" MGI:106199 RGD:619799 601398 ligandId:5086 HGNC:12681 "ENST00000309422.7|NM_003377.5" +HGNC:12682 VEGFC vascular endothelial growth factor C protein-coding gene gene with protein product Approved 4q34.3 04q34.3 "VRP|VEGF-C" vascular endothelial growth factor-related protein VEGF family 1267 1996-10-26 2021-05-26 7424 ENSG00000150630 OTTHUMG00000160734 uc032ufc.2 BC035212 NM_005429 CCDS43285 P49767 8617204 MGI:109124 RGD:619800 601528 376917 ligandId:5087 HGNC:12682 "ENST00000618562.2|NM_005429.5" HGNC:12682 +HGNC:3708 VEGFD vascular endothelial growth factor D protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 VEGF-D FIGF c-fos induced growth factor (vascular endothelial growth factor D) VEGF family 1267 1997-03-27 2016-05-23 2016-05-23 2020-04-02 2277 ENSG00000165197 OTTHUMG00000021175 uc004cwt.3 AJ000185 NM_004469 CCDS14166 O43915 9479493 MGI:108037 RGD:620695 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FIGF 300091 ligandId:5088 HGNC:3708 "ENST00000297904.4|NM_004469.5" +HGNC:13639 VENTX VENT homeobox protein-coding gene gene with protein product Approved 10q26.3 10q26.3 HPX42B VENTX2 "VENT-like homeobox 2|VENT homeobox homolog (Xenopus laevis)" NKL subclass homeoboxes and pseudogenes 519 2001-08-23 2005-09-27 2011-06-01 2014-11-18 27287 ENSG00000151650 OTTHUMG00000019307 uc010quy.3 AF068006 NM_014468 CCDS7675 O95231 10790436 RGD:2320944 607158 8558 HGNC:13639 "ENST00000325980.10|NM_014468.4" +HGNC:30900 VENTXP1 VENT homeobox pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 "NA88A|CT18" "tumor antigen NA88A|cancer/testis antigen 18" VENT homeobox (Xenopus laevis) pseudogene 1 NKL subclass homeoboxes and pseudogenes 519 2005-09-27 2011-06-01 2012-10-04 139538 ENSG00000259849 OTTHUMG00000175433 uc004dbs.3 AF164963 NR_001559 P0C5K6 8402 HGNC:30900 +HGNC:30901 VENTXP2 VENT homeobox pseudogene 2 pseudogene pseudogene Approved 13q31.1 13q31.1 VENT homeobox (Xenopus laevis) pseudogene 2 NKL subclass homeoboxes and pseudogenes 519 2005-09-27 2011-06-01 2020-04-20 100287345 ENSG00000215037 OTTHUMG00000017150 NG_002909 8403 PGOHUM00000248448 HGNC:30901 +HGNC:30902 VENTXP3 VENT homeobox pseudogene 3 pseudogene pseudogene Approved 12q21.1 12q21.1 VENT homeobox (Xenopus laevis) pseudogene 3 NKL subclass homeoboxes and pseudogenes 519 2005-09-27 2011-06-01 2017-03-22 349814 ENSG00000257364 OTTHUMG00000169694 NG_002911 8404 PGOHUM00000291729 HGNC:30902 +HGNC:30903 VENTXP4 VENT homeobox pseudogene 4 pseudogene pseudogene Approved 3p24.1 03p24.1 VENT homeobox (Xenopus laevis) pseudogene 4 NKL subclass homeoboxes and pseudogenes 519 2005-09-27 2011-06-01 2016-10-05 152101 ENSG00000230465 OTTHUMG00000155613 NG_002906 8405 PGOHUM00000237560 HGNC:30903 +HGNC:32214 VENTXP5 VENT homeobox pseudogene 5 pseudogene pseudogene Approved 8p12 08p12 VENT homeobox (Xenopus laevis) pseudogene 5 NKL subclass homeoboxes and pseudogenes 519 2005-09-27 2011-06-01 2011-06-20 442384 ENSG00000253569 OTTHUMG00000163947 NG_005091 8406 PGOHUM00000249291 HGNC:32214 +HGNC:32216 VENTXP6 VENT homeobox pseudogene 6 pseudogene pseudogene Approved 8q21.11 08q21.11 VENT homeobox (Xenopus laevis) pseudogene 6 NKL subclass homeoboxes and pseudogenes 519 2005-09-27 2011-06-01 2011-06-20 552879 ENSG00000254105 OTTHUMG00000164572 NG_005090 8407 PGOHUM00000249712 HGNC:32216 +HGNC:13638 VENTXP7 VENT homeobox pseudogene 7 pseudogene pseudogene Approved 3p24.3 03p24.3 HPX42 VENTX1 "VENT-like homeobox 1|VENT homeobox (Xenopus laevis) pseudogene 7" NKL subclass homeoboxes and pseudogenes 519 2004-11-26 2005-09-27 2011-06-01 2014-11-18 391518 ENSG00000236380 OTTHUMG00000155442 X74864 NR_002311 11549314 8408 PGOHUM00000237957 HGNC:13638 +HGNC:54910 VENTXP8 VENTX pseudogene 8 pseudogene pseudogene Approved Xp21.3 Xp21.3 2020-04-24 2020-04-24 100421110 ENSG00000230265 NG_026809 +HGNC:25735 VEPH1 ventricular zone expressed PH domain containing 1 protein-coding gene gene with protein product Approved 3q25.31-q25.32 03q25.31-q25.32 "FLJ12604|KIAA1692" ventricular zone expressed PH domain homolog 1 (zebrafish) "Pleckstrin homology domain containing|Armadillo like helical domain containing" "682|1492" 2005-01-24 2015-11-11 2018-02-13 79674 ENSG00000197415 OTTHUMG00000158711 uc003fbk.3 AL713656 NM_024621 "CCDS54661|CCDS54662|CCDS3179|CCDS54663" Q14D04 "11214970|15388229" MGI:1920039 RGD:1308217 609594 HGNC:25735 "ENST00000362010.7|NM_001167912.2" +HGNC:12949 VEZF1 vascular endothelial zinc finger 1 protein-coding gene gene with protein product Approved 17q22 17q22 DB1 ZNF161 zinc finger protein 161 Zinc fingers C2H2-type 28 1994-09-28 2006-08-16 2006-08-16 2015-08-26 7716 ENSG00000136451 OTTHUMG00000178777 uc002ivf.2 D28118 NM_001330393 "CCDS82169|CCDS32687" Q14119 8035792 MGI:1313291 RGD:1308058 606747 HGNC:12949 "ENST00000581208.2|NM_007146.3" HGNC:12949 +HGNC:32320 VEZF1P1 vascular endothelial zinc finger 1 pseudogene 1 pseudogene pseudogene Approved 3q29 03q29 "ZNF161L1|VEZF1L1" "zinc finger protein 161-like 1|vascular endothelial zinc finger 1-like 1" 2005-10-04 2011-07-07 2011-07-07 2020-04-20 647319 ENSG00000236229 OTTHUMG00000156103 NG_006550 PGOHUM00000237903 HGNC:32320 +HGNC:18258 VEZT vezatin, adherens junctions transmembrane protein protein-coding gene gene with protein product Approved 12q22 12q22 DKFZP761C241 2006-01-27 2014-11-19 55591 ENSG00000028203 OTTHUMG00000170182 uc001tdz.2 AF216644 NM_017599 CCDS44954 Q9HBM0 "11080149|16199027|21156161" MGI:2143698 RGD:1359117 619749 HGNC:18258 "ENST00000436874.6|NM_017599.4" +HGNC:54949 VEZTP1 VEZT pseudogene 1 pseudogene pseudogene Approved Xp11.3 Xp11.3 2020-05-01 2020-05-01 100113397 ENSG00000224072 NG_006603 +HGNC:12684 VGF VGF nerve growth factor inducible protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "SCG7|SgVII" neuro-endocrine specific protein VGF Granins 925 1997-07-22 2016-10-05 7425 ENSG00000128564 OTTHUMG00000157109 uc003uxx.5 Y12661 NM_003378 CCDS5712 O15240 9344675 MGI:1343180 RGD:69399 602186 HGNC:12684 "ENST00000249330.3|NM_003378.4" +HGNC:20985 VGLL1 vestigial like family member 1 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "TONDU|TDU" "vestigial like 1 (Drosophila)|vestigial-like family member 1" "Vestigial like family|MicroRNA protein coding host genes" "367|1691" 2003-04-30 2015-11-23 2020-04-02 51442 ENSG00000102243 OTTHUMG00000022509 uc004ezy.3 AF137387 NM_016267 CCDS14658 Q99990 10518497 MGI:2655768 RGD:1564038 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VGLL1 300583 HGNC:20985 "ENST00000370634.8|NM_016267.4" +HGNC:20232 VGLL2 vestigial like family member 2 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 "vestigial like 2 (Drosophila)|vestigial-like family member 2" Vestigial like family 367 2003-04-30 2015-11-23 2016-10-05 245806 ENSG00000170162 OTTHUMG00000015451 uc003pxn.4 AY056583 NM_153453 "CCDS5115|CCDS5114" Q8N8G2 12376544 MGI:2447460 RGD:1311903 609979 HGNC:20232 "ENST00000326274.6|NM_182645.3" +HGNC:24327 VGLL3 vestigial like family member 3 protein-coding gene gene with protein product Approved 3p12.1 03p12.1 VGL-3 "vestigial like 3 (Drosophila)|vestigial-like family member 3" Vestigial like family 367 2005-12-30 2015-11-23 2020-04-20 389136 ENSG00000206538 OTTHUMG00000158984 uc003dqn.4 AF099505 NM_016206 "CCDS82807|CCDS43110" A8MV65 12376544 MGI:1920819 RGD:1560030 609980 HGNC:24327 "ENST00000398399.7|NM_016206.4" +HGNC:28966 VGLL4 vestigial like family member 4 protein-coding gene gene with protein product Approved 3p25.3-p25.2 03p25.3-p25.2 KIAA0121 "vestigial like 4 (Drosophila)|vestigial-like family member 4" Vestigial like family 367 2004-06-03 2015-11-23 2018-02-13 9686 ENSG00000144560 OTTHUMG00000129739 uc010hdx.3 D50911 NM_014667 "CCDS68342|CCDS2606|CCDS46755|CCDS68343|CCDS46756|CCDS46754" Q14135 "8590280|15140898" MGI:2652840 RGD:1311653 618692 HGNC:28966 "ENST00000430365.7|NM_001128219.3" +HGNC:12687 VHL von Hippel-Lindau tumor suppressor protein-coding gene gene with protein product Approved 3p25.3 03p25.3 VHL1 "von Hippel-Lindau syndrome|von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase" 1986-01-01 2016-03-02 2021-05-26 7428 ENSG00000134086 OTTHUMG00000128668 uc003bvc.4 L15409 NM_000551 "CCDS2598|CCDS2597" P40337 9671762 MGI:103223 RGD:3960 "UMD Locus Specific Databases|http://www.umd.be/|LRG_322|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_322.xml" VHL 608537 120467 HGNC:12687 "ENST00000256474.3|NM_000551.4" HGNC:12687 +HGNC:30666 VHLL VHL like protein-coding gene gene with protein product Approved 1q22 01q22 VLP VHLP "VHL pseudogene|von Hippel-Lindau tumor suppressor like" 2004-09-02 2017-02-28 2017-02-28 391104 ENSG00000189030 OTTHUMG00000024058 uc001fok.4 NM_001004319 Q6RSH7 14757845 MGI:103223 619650 471318 HGNC:30666 "ENST00000339922.5|NM_001004319.3" +HGNC:12690 VIL1 villin 1 protein-coding gene gene with protein product Approved 2q35 02q35 D2S1471 VIL Gelsolin/villins 950 2001-06-22 2014-11-19 7429 ENSG00000127831 OTTHUMG00000133112 uc002via.4 X12901 NM_007127 CCDS2417 P09327 2846586 MGI:98930 RGD:1307048 193040 HGNC:12690 "ENST00000248444.10|NM_007127.3" +HGNC:30906 VILL villin like protein-coding gene gene with protein product Approved 3p22.2 03p22.2 Gelsolin/villins 950 2004-07-28 2016-06-30 2016-10-05 50853 ENSG00000136059 OTTHUMG00000130814 uc003chj.4 NM_015873 CCDS2670 O15195 9179494 MGI:1201781 RGD:1304843 619666 HGNC:30906 "ENST00000383759.7|NM_015873.4" +HGNC:12692 VIM vimentin protein-coding gene gene with protein product Approved 10p13 10p13 Intermediate filaments Type III 610 2001-06-22 2015-08-26 7431 ENSG00000026025 OTTHUMG00000017744 uc001iou.3 M14144 NM_003380 CCDS7120 P08670 MGI:98932 RGD:621646 193060 233060 HGNC:12692 HGNC:12692 "ENST00000544301.7|NM_003380.5" HGNC:12692 +HGNC:44879 VIM-AS1 VIM antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p13 10p13 Antisense RNAs 1987 2012-12-11 2018-04-20 100507347 ENSG00000229124 OTTHUMG00000017743 uc001iot.3 BC078172 NR_108061 "28881755|29656793" VIM-AS1 HGNC:44879 +HGNC:43891 VIM2P vimentin 2, pseudogene pseudogene pseudogene Approved 6q22.32 06q22.32 "lncRNA-CIR|RP11-162L10.1|VIM2" long non-coding RNA, cartilage injury-related VIMP1 "vimentin pseudogene 1|vimentin 2, pseudogene (functional)" 2012-04-23 2014-06-27 2016-01-29 2018-10-10 100130535 ENSG00000220548 OTTHUMG00000015519 NG_022326 "24757148|30292414" PGOHUM00000243352 lncrna-cir HGNC:43891 +HGNC:53736 VINAC1P vinculin/alpha-catenin family member 1, pseudogene pseudogene pseudogene Approved 2q14.1 02q14.1 2018-11-23 2018-11-23 114515517 ENSG00000283698 OTTHUMG00000191782 MGI:3649276 +HGNC:12693 VIP vasoactive intestinal peptide protein-coding gene gene with protein product Approved 6q25.2 06q25.2 prepro-VIP Neuropeptides 1902 2001-06-22 2016-10-05 7432 ENSG00000146469 OTTHUMG00000015851 uc003qpe.6 NM_003381 "CCDS5240|CCDS5241" P01282 MGI:98933 RGD:621647 192320 ligandId:3706 HGNC:12693 "ENST00000367244.8|NM_003381.4" +HGNC:20347 VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "VIPAR|VPS16B|SPE-39|SPE39|hSPE-39" "VPS33B interacting protein, apical-basolateral polarity regulator|Spermatogenesis-defective protein 39 homolog" C14orf133 chromosome 14 open reading frame 133 2003-01-28 2012-07-24 2012-07-24 2022-01-17 63894 ENSG00000151445 OTTHUMG00000171538 uc001xtu.3 AK022925 NM_022067 "CCDS9862|CCDS53905" Q9H9C1 "20190753|19109425|22753090|22677173|23002115|23918659" MGI:2144805 RGD:1589291 LRG_1019|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1019.xml 613401 227089 HGNC:20347 "ENST00000557658.6|NM_001193315.2" HGNC:20347 +HGNC:12694 VIPR1 vasoactive intestinal peptide receptor 1 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "VPAC1|RDC1|HVR1|VPAC1R" VIP and PACAP receptor 1 Vasoactive intestinal peptide family receptors 264 1991-09-13 2016-10-05 7433 ENSG00000114812 OTTHUMG00000131792 uc003clf.3 AH005329 NM_004624 "CCDS58829|CCDS2698|CCDS58827|CCDS58828" P32241 7708752 MGI:109272 RGD:3961 192321 objectId:371 HGNC:12694 "ENST00000325123.5|NM_004624.4" +HGNC:40610 VIPR1-AS1 VIPR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 VIPR1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874007 ENSG00000232354 OTTHUMG00000156181 uc062iol.1 NR_046654 VIPR1-AS1 HGNC:40610 +HGNC:12695 VIPR2 vasoactive intestinal peptide receptor 2 protein-coding gene gene with protein product Approved 7q36.3 07q36.3 "VPAC2|VPAC2R" VIP and PACAP receptor 2 Vasoactive intestinal peptide family receptors 264 1994-04-28 2014-11-19 7434 ENSG00000106018 OTTHUMG00000151446 uc003woh.3 "CA449700|X95097" NM_003382 "CCDS78295|CCDS5950" P41587 7811244 MGI:107166 RGD:3962 601970 objectId:372 HGNC:12695 "ENST00000262178.7|NM_003382.5" +HGNC:24500 VIRMA vir like m6A methyltransferase associated protein-coding gene gene with protein product Approved 8q22.1 08q22.1 "DKFZP434I116|fSAP121" "functional spliceosome-associated protein 121|virilizer homolog" KIAA1429 KIAA1429 "m6A methyltransferase complex|WTAP complex|Armadillo like helical domain containing" "1419|1420|1492" 2005-09-01 2017-05-18 2017-05-18 2017-05-18 25962 ENSG00000164944 OTTHUMG00000164426 uc003ygo.3 AB037850 NM_015496 "CCDS47894|CCDS34923" Q69YN4 "10718198|24100041|24981863" MGI:1913435 RGD:1559904 616447 HGNC:24500 "ENST00000297591.10|NM_015496.5" +HGNC:55531 VIRMA-DT VIRMA divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.1 08q22.1 Divergent transcripts 1990 2021-03-22 2021-03-22 101926977 ENSG00000253704 XR_001746005 +HGNC:12696 VIS1 viral integration site 1 other virus integration site Approved 2q14-q21 02q14-q21 "HIS1|HIS-1" 1992-11-25 2013-12-11 7435 uc021vqo.1 U56440 1682866 164755 +HGNC:12697 VIT vitrin protein-coding gene gene with protein product Approved 2p22.2 02p22.2 1998-04-02 2014-11-19 5212 ENSG00000205221 OTTHUMG00000152149 uc002rpl.4 AF063833 NM_001177969 "CCDS33180|CCDS54349|CCDS54347|CCDS54350|CCDS54348" Q6UXI7 MGI:1921449 RGD:1564128 617693 HGNC:12697 "ENST00000379242.8|NM_053276.4" +HGNC:23663 VKORC1 vitamin K epoxide reductase complex subunit 1 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 VKCFD2 vitamin K dependent clotting factors deficiency 2 2004-02-04 2015-11-09 2021-05-26 79001 ENSG00000167397 OTTHUMG00000047408 uc002eas.4 NM_024006 "CCDS10704|CCDS10703" Q9BQB6 MGI:106442 RGD:1303107 LRG_582|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_582.xml 608547 159472 objectId:2645 HGNC:23663 "ENST00000394975.3|NM_024006.6" HGNC:23663 +HGNC:21492 VKORC1L1 vitamin K epoxide reductase complex subunit 1 like 1 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 2004-02-04 2015-11-09 2015-11-09 154807 ENSG00000196715 OTTHUMG00000129449 uc003tum.3 NM_173517 "CCDS64663|CCDS5529" Q8N0U8 23928358 MGI:1916818 RGD:1303249 608838 HGNC:21492 "ENST00000360768.5|NM_173517.6" +HGNC:33182 VKORC1P1 VKORC1 pseudogene 1 pseudogene pseudogene Approved Xp21.3 Xp21.3 2006-11-20 2020-04-24 414355 ENSG00000233243 NG_004115 HGNC:33182 +HGNC:33183 VKORC1P2 VKORC1 pseudogene 2 pseudogene pseudogene Approved 1p32 01p32 2006-11-20 2006-11-20 414357 NG_004116 HGNC:33183 +HGNC:12698 VLDLR very low density lipoprotein receptor protein-coding gene gene with protein product Approved 9p24.2 09p24.2 "CARMQ1|CHRMQ1|VLDLRCH" Low density lipoprotein receptors 634 1993-09-24 2021-05-26 7436 ENSG00000147852 OTTHUMG00000019447 uc003zhk.2 NM_003383 "CCDS6446|CCDS34979" P98155 8294473 MGI:98935 RGD:3963 192977 120470 HGNC:12698 "ENST00000382100.8|NM_003383.5" HGNC:12698 +HGNC:49621 VLDLR-AS1 VLDLR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9p24.2 09p24.2 lincRNA-VLDLR Antisense RNAs 1987 2014-01-24 2016-11-25 401491 ENSG00000236404 OTTHUMG00000019448 "AK092343|BC004474" NR_015375 "21057500|24874432" lincrna-vldlr VLDLR-AS1 HGNC:49621 +HGNC:22082 VMA21 vacuolar ATPase assembly factor VMA21 protein-coding gene gene with protein product Approved Xq28 Xq28 XMEA MEAX "myopathy with excessive autophagy|VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)" 2009-01-10 2019-01-21 2021-05-26 203547 ENSG00000160131 OTTHUMG00000024168 uc004feu.4 AK096835 NM_001017980 "CCDS87789|CCDS35430" Q3ZAQ7 "2892402|10757644|19379691" MGI:1914298 RGD:1566155 LRG_860|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_860.xml 300913 189325 HGNC:22082 "ENST00000330374.7|NM_001017980.4" HGNC:22082 +HGNC:33803 VMAC vimentin type intermediate filament associated coiled-coil protein protein-coding gene gene with protein product Approved 19p13.3 19p13.3 2009-06-12 2017-06-13 2017-06-13 400673 ENSG00000187650 OTTHUMG00000180618 uc002mds.5 BC110802 NM_001017921 CCDS32881 Q2NL98 14985129 MGI:2146912 RGD:1303340 617204 HGNC:33803 "ENST00000339485.4|NM_001017921.4" +HGNC:30387 VMO1 vitelline membrane outer layer 1 homolog protein-coding gene gene with protein product Approved 17p13.2 17p13.2 vitelline membrane outer layer 1 homolog (chicken) 2005-11-14 2016-04-05 2016-04-05 284013 ENSG00000182853 OTTHUMG00000177898 uc002fyx.4 AF521892 NM_182566 "CCDS45587|CCDS45586|CCDS11055|CCDS45585" Q7Z5L0 22025569 MGI:2685587 RGD:1559861 HGNC:30387 "ENST00000328739.6|NM_182566.3" +HGNC:29559 VMP1 vacuole membrane protein 1 protein-coding gene gene with protein product Approved 17q23.1 17q23.1 "EPG3|TANGO5" "ectopic P-granules autophagy protein 3 homolog (C. elegans)|transport and golgi organization 5 homolog (Drosophila)" TMEM49 transmembrane protein 49 MicroRNA protein coding host genes 1691 2005-04-28 2011-03-02 2011-03-02 2014-05-20 81671 ENSG00000062716 OTTHUMG00000179882 uc002ixu.5 NM_030938 CCDS11619 Q96GC9 "11230166|11785947" MGI:1923159 RGD:70367 611753 HGNC:29559 "ENST00000262291.9|NM_030938.5" +HGNC:13548 VN1R1 vomeronasal 1 receptor 1 protein-coding gene gene with protein product Approved 19q13.4 19q13.4 "V1RL1|ZVNR1|ZVNH1" VNR19I1 vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1 Vomeronasal receptors 291 2003-01-15 2003-01-15 2015-09-03 57191 ENSG00000178201 OTTHUMG00000183400 uc002qos.3 AF255342 NM_020633 CCDS12951 Q9GZP7 10973240 605234 HGNC:13548 "ENST00000321039.5|NM_020633.4" +HGNC:19872 VN1R2 vomeronasal 1 receptor 2 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 V1RL2 Vomeronasal receptors 291 2003-01-15 2015-09-03 317701 ENSG00000196131 OTTHUMG00000182906 uc002qbi.2 AF370359 NM_173856 CCDS12862 Q8NFZ6 12123587 "MGI:2159615|MGI:2159616|MGI:2159624|MGI:2159625|MGI:2159626|MGI:2159632|MGI:2159633|MGI:2159634|MGI:3645524|MGI:3648262" HGNC:19872 "ENST00000341702.3|NM_173856.2" +HGNC:19867 VN1R3 vomeronasal 1 receptor 3 other unknown Approved 16p11.2 16p11.2 "V1RL3|FKSG46" "vomeronasal 1 receptor 3 pseudogene|vomeronasal 1 receptor 3 (gene/pseudogene)" Vomeronasal receptors 291 2003-01-15 2020-05-01 2021-10-06 317702 ENSG00000180663 OTTHUMG00000176634 AF336873 NM_174980 Q9BXE9 15653832 RGD:1359155 PGOHUM00000248814 HGNC:19867 +HGNC:19871 VN1R4 vomeronasal 1 receptor 4 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 V1RL4 Vomeronasal receptors 291 2003-01-15 2015-09-03 317703 ENSG00000228567 OTTHUMG00000182907 uc010ydu.3 AY114733 NM_173857 CCDS33099 Q7Z5H5 12123587 "MGI:2159615|MGI:2159616|MGI:2159624|MGI:2159625|MGI:2159626|MGI:2159628|MGI:2159632|MGI:2159633|MGI:2159634|MGI:2159635|MGI:2159636|MGI:2159637|MGI:2159638|MGI:2159639|MGI:2182253|MGI:2182255|MGI:3645524|MGI:3648262|MGI:3852451" RGD:1359719 HGNC:19871 +HGNC:19870 VN1R5 vomeronasal 1 receptor 5 (gene/pseudogene) protein-coding gene gene with protein product Approved 1q44 01q44 V1RL5 vomeronasal 1 receptor 5 Vomeronasal receptors 291 2003-01-15 2009-10-09 2015-09-03 317705 ENSG00000197617 OTTHUMG00000041165 "AY114735|AY312489" NM_173858 CCDS86062 Q7Z5H4 12123587 "MGI:1344384|MGI:2148508|MGI:2148509|MGI:2148511|MGI:2148512|MGI:2148514|MGI:2148515|MGI:2148517|MGI:2148518|MGI:2148519|MGI:2148520|MGI:3647849" RGD:1359628 PGOHUM00000245296 HGNC:19870 +HGNC:13712 VN1R6P vomeronasal 1 receptor 6, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 "ZVNR2|ZVNH2" VNR19I2 vomeronasal olfactory receptor, (chromosome 19) subtype I, member 2 Vomeronasal receptors 291 2003-01-15 2020-08-13 2020-08-13 653753 ENSG00000174677 OTTHUMG00000154497 NG_012999 PGOHUM00000234763 HGNC:13712 +HGNC:8496 VN1R7P vomeronasal 1 receptor 7 pseudogene pseudogene pseudogene Approved 21p11.2 21p11.2 ORLP1 olfactory receptor-like pseudogene 1 Vomeronasal receptors 291 2000-05-23 2003-01-17 2003-01-15 2015-02-02 100132759 ENSG00000275592 OTTHUMG00000188302 AF253314 NG_002218 "11116092|10830953" PGOHUM00000239009 HGNC:8496 +HGNC:8497 VN1R8P vomeronasal 1 receptor 8 pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 ORLP2 olfactory receptor-like pseudogene 2 Vomeronasal receptors 291 2000-05-23 2003-01-17 2003-01-15 2014-11-19 54041 ENSG00000219280 OTTHUMG00000074205 NG_002647 PGOHUM00000239127 HGNC:8497 +HGNC:20257 VN1R9P vomeronasal 1 receptor 9 pseudogene pseudogene pseudogene Approved 22q11.1 22q11.1 VN1R22-1P Vomeronasal receptors 291 2003-01-15 2020-08-13 2020-08-13 317691 ENSG00000276400 OTTHUMG00000188007 NG_002459 PGOHUM00000297441 HGNC:20257 +HGNC:13550 VN1R10P vomeronasal 1 receptor 10 pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "hs6V1-1p|b24o18.2" VNR6I1P vomeronasal olfactory receptor, (chromosome 6) subtype I, member 1 pseudogene Vomeronasal receptors 291 2003-12-09 2003-01-15 2016-10-05 387316 ENSG00000220758 OTTHUMG00000016326 NR_045612 PGOHUM00000243528 HGNC:13550 +HGNC:13551 VN1R11P vomeronasal 1 receptor 11, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 "dJ86C11.7|hs6V1-2p|VNR6I2P" Vomeronasal receptors 291 2003-12-09 2018-01-12 2018-01-12 387317 ENSG00000219770 OTTHUMG00000014472 NG_015637 PGOHUM00000243525 HGNC:13551 +HGNC:18722 VN1R12P vomeronasal 1 receptor 12, pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 "VNR6I3P|bA373D17.2|hs6V1-3p" Vomeronasal receptors 291 2003-12-09 2018-01-12 2018-01-12 387321 ENSG00000220581 OTTHUMG00000014465 NG_015635 HGNC:18722 +HGNC:18723 VN1R13P vomeronasal 1 receptor 13 pseudogene pseudogene pseudogene Approved 6p22.2 06p22.2 "bA373D17.3|hs6V1-4p|VNR6I4P" Vomeronasal receptors 291 2003-12-09 2016-10-05 387322 ENSG00000216762 OTTHUMG00000014467 NG_015636 PGOHUM00000243091 HGNC:18723 +HGNC:18721 VN1R14P vomeronasal 1 receptor 14 pseudogene pseudogene pseudogene Approved 6p22-p21 06p22-p21 "bA457M11.4|hs6M1-5p|VNR6I5P" Vomeronasal receptors 291 2003-12-09 2015-02-02 387320 NG_015634 HGNC:18721 +HGNC:37327 VN1R15P vomeronasal 1 receptor 15 pseudogene pseudogene pseudogene Approved 1q42.13 01q42.13 Vomeronasal receptors 291 2009-09-24 2014-11-19 100312804 NG_015662 PGOHUM00000245233 HGNC:37327 +HGNC:37330 VN1R16P vomeronasal 1 receptor 16 pseudogene pseudogene pseudogene Approved 1q44 01q44 Vomeronasal receptors 291 2009-09-24 2012-06-11 100312805 NG_015663 HGNC:37330 +HGNC:37331 VN1R17P vomeronasal 1 receptor 17 pseudogene pseudogene pseudogene Approved 1q44 01q44 Vomeronasal receptors 291 2009-09-24 2014-11-19 441931 ENSG00000235818 OTTHUMG00000041163 NG_011997 Q8TDU5 "MGI:1333759|MGI:1333762|MGI:1344384|MGI:2148508|MGI:2148509|MGI:2148510|MGI:2148511|MGI:2148512|MGI:2148513|MGI:2148514|MGI:2148515|MGI:2148516|MGI:2148517|MGI:2148518|MGI:2148519|MGI:2148520|MGI:3647849" RGD:1549696 PGOHUM00000244542 HGNC:37331 +HGNC:37334 VN1R18P vomeronasal 1 receptor 18 pseudogene pseudogene pseudogene Approved 2p16.3 02p16.3 Vomeronasal receptors 291 2009-09-24 2020-01-08 100133087 ENSG00000275423 AC092650 NG_015956 PGOHUM00000240636 HGNC:37334 +HGNC:37328 VN1R19P vomeronasal 1 receptor 19 pseudogene pseudogene pseudogene Approved 2q21.2 02q21.2 Vomeronasal receptors 291 2009-09-24 2012-06-11 100312843 NG_015701 HGNC:37328 +HGNC:37335 VN1R20P vomeronasal 1 receptor 20 pseudogene pseudogene pseudogene Approved 3p25.1 03p25.1 Vomeronasal receptors 291 2009-09-24 2020-08-13 100312775 ENSG00000233121 OTTHUMG00000154485 NG_015633 PGOHUM00000237948 HGNC:37335 +HGNC:37336 VN1R21P vomeronasal 1 receptor 21 pseudogene pseudogene pseudogene Approved 3p25.1 03p25.1 Vomeronasal receptors 291 2009-09-24 2020-08-13 100128368 ENSG00000224752 OTTHUMG00000154484 NG_015951 PGOHUM00000237541 HGNC:37336 +HGNC:37337 VN1R22P vomeronasal 1 receptor 22 pseudogene pseudogene pseudogene Approved 4q25 04q25 Vomeronasal receptors 291 2009-09-24 2014-11-19 100312844 NG_015702 PGOHUM00000246019 HGNC:37337 +HGNC:37338 VN1R23P vomeronasal 1 receptor 23 pseudogene pseudogene pseudogene Approved 4q25 04q25 Vomeronasal receptors 291 2009-09-24 2014-11-18 100312845 NG_015703 PGOHUM00000245646 HGNC:37338 +HGNC:37344 VN1R24P vomeronasal 1 receptor 24 pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 Vomeronasal receptors 291 2009-09-24 2012-06-11 100312781 NG_015639 HGNC:37344 +HGNC:37345 VN1R25P vomeronasal 1 receptor 25 pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 Vomeronasal receptors 291 2009-09-24 2014-11-19 100312782 ENSG00000224947 OTTHUMG00000156299 NG_015640 PGOHUM00000233259 HGNC:37345 +HGNC:37346 VN1R26P vomeronasal 1 receptor 26 pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 Vomeronasal receptors 291 2009-09-24 2012-06-11 100312783 NG_015641 HGNC:37346 +HGNC:37347 VN1R27P vomeronasal 1 receptor 27 pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 Vomeronasal receptors 291 2009-09-24 2012-06-11 100312784 NG_015642 HGNC:37347 +HGNC:37348 VN1R28P vomeronasal 1 receptor 28 pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 Vomeronasal receptors 291 2009-09-24 2020-08-13 100312785 ENSG00000227182 OTTHUMG00000154495 NG_015643 PGOHUM00000232762 HGNC:37348 +HGNC:37349 VN1R29P vomeronasal 1 receptor 29 pseudogene pseudogene pseudogene Approved 7p11.2 07p11.2 Vomeronasal receptors 291 2009-09-24 2012-06-11 100312786 NG_015644 HGNC:37349 +HGNC:37350 VN1R30P vomeronasal 1 receptor 30 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-24 2014-11-19 100287919 NG_015953 PGOHUM00000233316 HGNC:37350 +HGNC:37351 VN1R31P vomeronasal 1 receptor 31 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-24 2014-11-19 100312787 ENSG00000236284 OTTHUMG00000156377 NG_015645 HGNC:37351 +HGNC:37352 VN1R32P vomeronasal 1 receptor 32 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-24 2020-08-13 100312788 ENSG00000230361 OTTHUMG00000154490 NG_015646 PGOHUM00000233318 HGNC:37352 +HGNC:37353 VN1R33P vomeronasal 1 receptor 33 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-24 2020-08-13 100288022 ENSG00000227426 OTTHUMG00000154474 NG_015943 PGOHUM00000232786 HGNC:37353 +HGNC:37354 VN1R34P vomeronasal 1 receptor 34 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-24 2020-08-13 100129587 ENSG00000233173 OTTHUMG00000154486 NG_015947 PGOHUM00000232805 HGNC:37354 +HGNC:37355 VN1R35P vomeronasal 1 receptor 35 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-24 2014-11-19 100312789 ENSG00000228660 OTTHUMG00000156545 NG_015647 PGOHUM00000232807 HGNC:37355 +HGNC:37356 VN1R36P vomeronasal 1 receptor 36 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-24 2014-11-19 100312790 ENSG00000230639 OTTHUMG00000156548 NG_015648 HGNC:37356 +HGNC:37357 VN1R37P vomeronasal 1 receptor 37 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-24 2014-11-18 402273 ENSG00000213643 OTTHUMG00000156479 NG_015950 PGOHUM00000232820 HGNC:37357 +HGNC:37358 VN1R38P vomeronasal 1 receptor 38 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-24 2020-08-13 100131065 ENSG00000235227 OTTHUMG00000154469 NG_015958 PGOHUM00000232821 HGNC:37358 +HGNC:37359 VN1R39P vomeronasal 1 receptor 39 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-24 2012-06-11 100312791 NG_015649 HGNC:37359 +HGNC:37360 VN1R40P vomeronasal 1 receptor 40 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-25 2014-11-19 100312792 ENSG00000223845 OTTHUMG00000154491 NG_015650 HGNC:37360 +HGNC:37361 VN1R41P vomeronasal 1 receptor 41 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-25 2014-11-19 100312793 NG_015651 PGOHUM00000233360 HGNC:37361 +HGNC:37362 VN1R42P vomeronasal 1 receptor 42 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-25 2014-11-19 100312794 ENSG00000223476 OTTHUMG00000156629 NG_015652 HGNC:37362 +HGNC:37363 VN1R43P vomeronasal 1 receptor 43 pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 Vomeronasal receptors 291 2009-09-25 2012-06-11 100312795 NG_015653 HGNC:37363 +HGNC:37364 VN1R44P vomeronasal 1 receptor 44 pseudogene pseudogene pseudogene Approved 7 07 Vomeronasal receptors 291 2009-09-25 2012-06-11 100312855 NG_015713 +HGNC:37365 VN1R45P vomeronasal 1 receptor 45 pseudogene pseudogene pseudogene Approved 8p11.21 08p11.21 Vomeronasal receptors 291 2009-09-25 2012-06-11 100312796 NG_015654 HGNC:37365 +HGNC:37366 VN1R46P vomeronasal 1 receptor 46 pseudogene pseudogene pseudogene Approved 8p11.1 08p11.1 Vomeronasal receptors 291 2009-09-25 2016-10-05 100131789 ENSG00000253611 OTTHUMG00000164103 NG_014057 HGNC:37366 +HGNC:37367 VN1R47P vomeronasal 1 receptor 47 pseudogene pseudogene pseudogene Approved 9p13.3 09p13.3 Vomeronasal receptors 291 2009-09-25 2012-06-11 100312797 AL139008 NG_015655 HGNC:37367 +HGNC:37368 VN1R48P vomeronasal 1 receptor 48 pseudogene pseudogene pseudogene Approved 9p13.1 09p13.1 Vomeronasal receptors 291 2009-09-25 2014-11-19 100312798 ENSG00000237487 OTTHUMG00000019943 NG_015656 PGOHUM00000236037 HGNC:37368 +HGNC:37369 VN1R49P vomeronasal 1 receptor 49 pseudogene pseudogene pseudogene Approved 9q13 09q13 VN1R50P vomeronasal 1 receptor 50 pseudogene Vomeronasal receptors 291 2009-09-25 2016-02-08 100312799 NG_015657 HGNC:37369 +HGNC:37371 VN1R51P vomeronasal 1 receptor 51 pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 Vomeronasal receptors 291 2009-09-30 2014-11-18 100312801 ENSG00000228038 OTTHUMG00000020315 NG_015659 PGOHUM00000236276 HGNC:37371 +HGNC:37372 VN1R52P vomeronasal 1 receptor 52 pseudogene pseudogene pseudogene Approved 9q22.33 09q22.33 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312802 NG_015660 HGNC:37372 +HGNC:37373 VN1R53P vomeronasal 1 receptor 53 pseudogene pseudogene pseudogene Approved 10p11.21 10p11.21 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312806 ENSG00000236313 OTTHUMG00000017973 NG_015664 HGNC:37373 +HGNC:37374 VN1R54P vomeronasal 1 receptor 54 pseudogene pseudogene pseudogene Approved 10q11.21 10q11.21 Vomeronasal receptors 291 2009-09-30 2016-08-15 100312807 ENSG00000232109 OTTHUMG00000018015 NG_015665 HGNC:37374 +HGNC:37375 VN1R55P vomeronasal 1 receptor 55 pseudogene pseudogene pseudogene Approved 10q23.31 10q23.31 Vomeronasal receptors 291 2009-09-30 2014-11-18 100312808 NG_015666 PGOHUM00000238575 HGNC:37375 +HGNC:37376 VN1R56P vomeronasal 1 receptor 56 pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312774 NG_015632 HGNC:37376 +HGNC:37377 VN1R57P vomeronasal 1 receptor 57 pseudogene pseudogene pseudogene Approved 12q21.31 12q21.31 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312809 NG_015667 PGOHUM00000239872 HGNC:37377 +HGNC:37378 VN1R58P vomeronasal 1 receptor 58 pseudogene pseudogene pseudogene Approved 13q11 13q11 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312810 NG_015668 HGNC:37378 +HGNC:37379 VN1R59P vomeronasal 1 receptor 59 pseudogene pseudogene pseudogene Approved 14q23.1 14q23.1 Vomeronasal receptors 291 2009-09-30 2014-11-19 100312811 NG_015669 PGOHUM00000248196 HGNC:37379 +HGNC:37380 VN1R60P vomeronasal 1 receptor 60 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 Vomeronasal receptors 291 2009-09-30 2014-11-19 100312812 NG_015670 HGNC:37380 +HGNC:37381 VN1R61P vomeronasal 1 receptor 61 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312813 NG_015671 HGNC:37381 +HGNC:37382 VN1R62P vomeronasal 1 receptor 62 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 Vomeronasal receptors 291 2009-09-30 2014-11-19 100312814 NG_015672 HGNC:37382 +HGNC:37383 VN1R63P vomeronasal 1 receptor 63 pseudogene pseudogene pseudogene Approved 15q11.2 15q11.2 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312815 NG_015673 HGNC:37383 +HGNC:37384 VN1R64P vomeronasal 1 receptor 64 pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 Vomeronasal receptors 291 2009-09-30 2020-08-13 730196 ENSG00000213547 OTTHUMG00000154494 XR_015841 PGOHUM00000249057 HGNC:37384 +HGNC:37385 VN1R65P vomeronasal 1 receptor 65 pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 Vomeronasal receptors 291 2009-09-30 2014-11-18 100128384 ENSG00000260883 OTTHUMG00000176624 NG_014049 PGOHUM00000249058 HGNC:37385 +HGNC:37386 VN1R66P vomeronasal 1 receptor 66 pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 Vomeronasal receptors 291 2009-09-30 2020-08-13 100129315 ENSG00000237185 OTTHUMG00000154473 XM_001717900 PGOHUM00000249059 HGNC:37386 +HGNC:37387 VN1R67P vomeronasal 1 receptor 67 pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 Vomeronasal receptors 291 2009-09-30 2014-11-18 100131118 ENSG00000260722 OTTHUMG00000176632 NG_014054 PGOHUM00000248813 HGNC:37387 +HGNC:37389 VN1R68P vomeronasal 1 receptor 68 pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 Vomeronasal receptors 291 2009-09-30 2017-10-25 100131688 ENSG00000259979 OTTHUMG00000176228 NG_014056 PGOHUM00000293567 HGNC:37389 +HGNC:37390 VN1R69P vomeronasal 1 receptor 69 pseudogene pseudogene pseudogene Approved 16p11.2 16p11.2 Vomeronasal receptors 291 2009-09-30 2017-10-25 100312816 ENSG00000260724 OTTHUMG00000176229 NG_015674 PGOHUM00000293830 HGNC:37390 +HGNC:37391 VN1R70P vomeronasal 1 receptor 70 pseudogene pseudogene pseudogene Approved 16p11.1 16p11.1 Vomeronasal receptors 291 2009-09-30 2017-10-25 100130059 ENSG00000261515 OTTHUMG00000176024 NG_014052 PGOHUM00000293843 HGNC:37391 +HGNC:37392 VN1R71P vomeronasal 1 receptor 71 pseudogene pseudogene pseudogene Approved 17q11.1 17q11.1 Vomeronasal receptors 291 2009-09-30 2017-10-25 100312817 ENSG00000264837 OTTHUMG00000179150 NG_015675 HGNC:37392 +HGNC:37393 VN1R72P vomeronasal 1 receptor 72 pseudogene pseudogene pseudogene Approved 17 17 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312853 NG_015711 +HGNC:37394 VN1R73P vomeronasal 1 receptor 73 pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 Vomeronasal receptors 291 2009-09-30 2014-11-19 100312818 NG_015676 HGNC:37394 +HGNC:37395 VN1R74P vomeronasal 1 receptor 74 pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 Vomeronasal receptors 291 2009-09-30 2015-05-18 100312819 ENSG00000273732 OTTHUMG00000188031 NG_015677 PGOHUM00000294611 HGNC:37395 +HGNC:37396 VN1R75P vomeronasal 1 receptor 75 pseudogene pseudogene pseudogene Approved 18p11.21 18p11.21 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312820 NG_015678 HGNC:37396 +HGNC:37397 VN1R76P vomeronasal 1 receptor 76 pseudogene pseudogene pseudogene Approved 18q21.2 18q21.2 Vomeronasal receptors 291 2009-09-30 2017-10-25 100312821 ENSG00000273762 OTTHUMG00000187948 NG_013341 PGOHUM00000294666 HGNC:37397 +HGNC:37398 VN1R77P vomeronasal 1 receptor 77 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2014-11-18 100312822 NG_015680 PGOHUM00000234206 HGNC:37398 +HGNC:37399 VN1R78P vomeronasal 1 receptor 78 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2016-07-26 100312823 ENSG00000268272 OTTHUMG00000182741 NG_015681 PGOHUM00000294927 HGNC:37399 +HGNC:37400 VN1R79P vomeronasal 1 receptor 79 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2016-07-26 100312824 ENSG00000269885 OTTHUMG00000182744 NG_015682 PGOHUM00000295257 HGNC:37400 +HGNC:37329 VN1R80P vomeronasal 1 receptor 80 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2016-07-26 100312825 ENSG00000268598 OTTHUMG00000182832 NG_015683 PGOHUM00000295271 HGNC:37329 +HGNC:37401 VN1R81P vomeronasal 1 receptor 81 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2016-07-26 100312826 ENSG00000268357 OTTHUMG00000182834 NG_015684 PGOHUM00000295273 HGNC:37401 +HGNC:37402 VN1R82P vomeronasal 1 receptor 82 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2016-07-25 100312827 ENSG00000268995 OTTHUMG00000182836 NG_015685 HGNC:37402 +HGNC:37403 VN1R83P vomeronasal 1 receptor 83 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2016-07-26 100312828 ENSG00000268521 OTTHUMG00000182840 NG_015686 HGNC:37403 +HGNC:37404 VN1R84P vomeronasal 1 receptor 84 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2016-07-26 100312829 ENSG00000268117 OTTHUMG00000182871 NG_015687 PGOHUM00000294942 HGNC:37404 +HGNC:37405 VN1R85P vomeronasal 1 receptor 85 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2016-07-26 100312830 ENSG00000269345 OTTHUMG00000182933 NG_015688 HGNC:37405 +HGNC:37406 VN1R86P vomeronasal 1 receptor 86 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312831 NG_015689 HGNC:37406 +HGNC:37407 VN1R87P vomeronasal 1 receptor 87 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2016-07-26 100312832 ENSG00000268789 OTTHUMG00000182990 NG_015690 HGNC:37407 +HGNC:37408 VN1R88P vomeronasal 1 receptor 88 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2016-07-26 100312833 ENSG00000268541 OTTHUMG00000183121 NG_015691 PGOHUM00000295307 HGNC:37408 +HGNC:37409 VN1R89P vomeronasal 1 receptor 89 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-09-30 2012-06-11 100312834 NG_015692 HGNC:37409 +HGNC:37410 VN1R90P vomeronasal 1 receptor 90 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-10-02 2016-07-26 100312835 ENSG00000268794 OTTHUMG00000183236 NG_015693 PGOHUM00000295312 HGNC:37410 +HGNC:37411 VN1R91P vomeronasal 1 receptor 91 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-10-02 2016-07-26 100312836 ENSG00000268148 OTTHUMG00000183237 NG_015694 HGNC:37411 +HGNC:37412 VN1R92P vomeronasal 1 receptor 92 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-10-02 2016-07-26 100312837 ENSG00000268908 OTTHUMG00000183273 NG_015695 PGOHUM00000295315 HGNC:37412 +HGNC:37413 VN1R93P vomeronasal 1 receptor 93 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-10-02 2017-10-25 100312838 ENSG00000269320 OTTHUMG00000183386 NG_015696 HGNC:37413 +HGNC:37414 VN1R94P vomeronasal 1 receptor 94 pseudogene pseudogene pseudogene Approved 19p12 19p12 Vomeronasal receptors 291 2009-10-02 2012-06-11 100312839 NG_015697 HGNC:37414 +HGNC:37415 VN1R95P vomeronasal 1 receptor 95 pseudogene pseudogene pseudogene Approved 19q11 19q11 Vomeronasal receptors 291 2009-10-02 2012-06-11 100131141 NG_015948 PGOHUM00000234648 HGNC:37415 +HGNC:37416 VN1R96P vomeronasal 1 receptor 96 pseudogene pseudogene pseudogene Approved 19q13.2 19q13.2 Vomeronasal receptors 291 2009-10-02 2020-08-13 100127969 ENSG00000230086 OTTHUMG00000154501 NG_015957 PGOHUM00000234317 HGNC:37416 +HGNC:37417 VN1R97P vomeronasal 1 receptor 97 pseudogene pseudogene pseudogene Approved 19q13.33 19q13.33 Vomeronasal receptors 291 2009-10-02 2014-11-19 100312840 NG_029574 PGOHUM00000234731 HGNC:37417 +HGNC:37418 VN1R98P vomeronasal 1 receptor 98 pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 Vomeronasal receptors 291 2009-10-02 2012-06-11 100312841 NG_015699 HGNC:37418 +HGNC:37419 VN1R99P vomeronasal 1 receptor 99 pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 Vomeronasal receptors 291 2009-10-02 2014-11-18 100312842 NG_015700 HGNC:37419 +HGNC:37420 VN1R100P vomeronasal 1 receptor 100 pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 Vomeronasal receptors 291 2009-10-05 2012-06-11 100312846 NG_015704 HGNC:37420 +HGNC:37424 VN1R101P vomeronasal 1 receptor 101 pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 Vomeronasal receptors 291 2009-10-05 2012-06-11 729885 XR_015287 HGNC:37424 +HGNC:37425 VN1R102P vomeronasal 1 receptor 102 pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 Vomeronasal receptors 291 2009-10-05 2012-06-11 100312847 NG_015705 HGNC:37425 +HGNC:37426 VN1R103P vomeronasal 1 receptor 103 pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 Vomeronasal receptors 291 2009-10-05 2012-06-11 730066 XR_016072 HGNC:37426 +HGNC:37427 VN1R104P vomeronasal 1 receptor 104 pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 Vomeronasal receptors 291 2009-10-05 2014-11-19 100288195 ENSG00000249654 OTTHUMG00000065546 NG_014074 PGOHUM00000234427 HGNC:37427 +HGNC:37428 VN1R105P vomeronasal 1 receptor 105 pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 Vomeronasal receptors 291 2009-10-05 2014-11-19 100288264 ENSG00000242856 OTTHUMG00000065711 NG_014075 PGOHUM00000234784 HGNC:37428 +HGNC:37429 VN1R106P vomeronasal 1 receptor 106 pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 Vomeronasal receptors 291 2009-10-06 2012-06-11 100312848 NG_046901 HGNC:37429 +HGNC:37431 VN1R107P vomeronasal 1 receptor 107 pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 Vomeronasal receptors 291 2009-10-06 2016-07-26 100312849 ENSG00000268545 OTTHUMG00000183401 NG_015707 PGOHUM00000295487 HGNC:37431 +HGNC:37432 VN1R108P vomeronasal 1 receptor 108 pseudogene pseudogene pseudogene Approved 20p11.1 20p11.1 Vomeronasal receptors 291 2009-10-06 2014-11-19 100312850 ENSG00000230772 OTTHUMG00000032139 NG_015708 PGOHUM00000247616 HGNC:37432 +HGNC:37434 VN1R109P vomeronasal 1 receptor 109 pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 Vomeronasal receptors 291 2009-10-06 2012-06-11 100312851 NG_015709 HGNC:37434 +HGNC:37438 VN1R110P vomeronasal 1 receptor 110 pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 Vomeronasal receptors 291 2009-10-06 2012-06-11 100312803 ENSG00000231725 OTTHUMG00000024120 NG_015661 HGNC:37438 +HGNC:37332 VN1R111P vomeronasal 1 receptor 111 pseudogene pseudogene pseudogene Approved 13q11 13q11 Vomeronasal receptors 291 2009-10-06 2014-07-10 100312852 NG_015710 HGNC:37332 +HGNC:37437 VN1R112P vomeronasal 1 receptor 112 pseudogene pseudogene pseudogene Approved 22 22 Vomeronasal receptors 291 2009-10-06 2015-02-19 100312854 NG_015712 +HGNC:30344 VN2R1P vomeronasal 2 receptor 1 pseudogene pseudogene pseudogene Approved 3q25.31 03q25.31 GPRC2B CASRL1 calcium-sensing receptor like 1 Vomeronasal receptors 291 2005-05-10 2007-02-12 2007-02-12 2014-11-18 344760 ENSG00000174930 OTTHUMG00000154694 AB065664 NG_006066 PGOHUM00000238241 HGNC:30344 +HGNC:33208 VN2R2P vomeronasal 2 receptor 2 pseudogene pseudogene pseudogene Approved 5q35.3 05q35.3 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033391 NG_006052 HGNC:33208 +HGNC:33209 VN2R3P vomeronasal 2 receptor 3, pseudogene pseudogene pseudogene Approved 9p12 09p12 "VN2R4P|VN2R5P|VN2R8P" "vomeronasal 2 receptor 4 pseudogene|vomeronasal 2 receptor 5 pseudogene|vomeronasal 2 receptor 8 pseudogene" Vomeronasal receptors 291 2007-02-12 2018-01-12 2018-01-12 100033392 ENSG00000234680 OTTHUMG00000152821 NG_006053 HGNC:33209 +HGNC:33212 VN2R6P vomeronasal 2 receptor 6 pseudogene pseudogene pseudogene Approved 9p11.1 09p11.1 Vomeronasal receptors 291 2007-02-12 2020-08-13 100033395 NG_006056 HGNC:33212 +HGNC:33213 VN2R7P vomeronasal 2 receptor 7 pseudogene pseudogene pseudogene Approved 9q12 09q12 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033396 NG_006057 HGNC:33213 +HGNC:33215 VN2R9P vomeronasal 2 receptor 9, pseudogene pseudogene pseudogene Approved 11q12.1 11q12.1 Vomeronasal receptors 291 2007-02-12 2018-01-12 2018-01-12 648315 ENSG00000236541 OTTHUMG00000154508 NG_005898 HGNC:33215 +HGNC:33216 VN2R10P vomeronasal 2 receptor 10, pseudogene pseudogene pseudogene Approved 16q23.1 16q23.1 Vomeronasal receptors 291 2007-02-12 2018-01-12 2018-01-12 100033398 ENSG00000226348 OTTHUMG00000154504 NG_006059 HGNC:33216 +HGNC:33217 VN2R11P vomeronasal 2 receptor 11 pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033399 NG_006060 HGNC:33217 +HGNC:33218 VN2R12P vomeronasal 2 receptor 12 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033400 NG_006061 HGNC:33218 +HGNC:33219 VN2R13P vomeronasal 2 receptor 13 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033401 NG_006062 HGNC:33219 +HGNC:33220 VN2R14P vomeronasal 2 receptor 14 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033402 NG_006063 HGNC:33220 +HGNC:33221 VN2R15P vomeronasal 2 receptor 15 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033403 NG_007173 HGNC:33221 +HGNC:33222 VN2R16P vomeronasal 2 receptor 16 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033404 NG_006108 HGNC:33222 +HGNC:33223 VN2R17P vomeronasal 2 receptor 17, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 Vomeronasal receptors 291 2007-02-12 2018-01-12 2018-01-12 649186 ENSG00000213014 OTTHUMG00000182139 NG_006107 PGOHUM00000234432 HGNC:33223 +HGNC:33224 VN2R18P vomeronasal 2 receptor 18 pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033406 NG_007172 HGNC:33224 +HGNC:33225 VN2R19P vomeronasal 2 receptor 19, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 Vomeronasal receptors 291 2007-02-12 2018-01-12 2018-01-12 100033407 ENSG00000235974 OTTHUMG00000152894 NG_006064 HGNC:33225 +HGNC:33226 VN2R20P vomeronasal 2 receptor 20 pseudogene pseudogene pseudogene Approved 21q21.2 21q21.2 Vomeronasal receptors 291 2007-02-12 2012-06-19 100033408 NG_006065 HGNC:33226 +HGNC:33938 VN2R21P vomeronasal 2 receptor 21 pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 Vomeronasal receptors 291 2008-01-16 2012-06-19 100127050 NG_007174 HGNC:33938 +HGNC:12705 VNN1 vanin 1 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 Tiff66 "pantetheine hydrolase|pantetheinase" Vanin family 10 1998-11-13 2020-03-09 8876 ENSG00000112299 OTTHUMG00000015587 uc003qdo.4 AJ132099 NM_004666 CCDS5159 O95497 9790769 MGI:108395 RGD:1310075 603570 objectId:3063 3.5.1.92 HGNC:12705 "ENST00000367928.5|NM_004666.3" +HGNC:12706 VNN2 vanin 2 protein-coding gene gene with protein product Approved 6q23.2 06q23.2 "FOAP-4|GPI-80" pantetheinase Vanin family 10 1998-11-13 2016-10-05 8875 ENSG00000112303 OTTHUMG00000015588 uc003qdt.4 AB026705 NM_001242350 "CCDS56451|CCDS5161|CCDS5162" O95498 "9790769|11491533" 603571 3.5.1.92 HGNC:12706 "ENST00000326499.11|NM_004665.6" +HGNC:16431 VNN3P vanin 3, pseudogene pseudogene pseudogene Approved 6q23.2 06q23.2 HSA238982 VNN3 vanin 3 Vanin family 10 2001-08-28 2021-07-12 2021-07-12 2021-07-12 55350 ENSG00000093134 OTTHUMG00000015589 uc063rkw.1 AJ238982 NR_028290 "10501839|19932582|19322213" MGI:1347055 RGD:1560609 606592 3.5.1.92 HGNC:16431 +HGNC:34518 VOPP1 VOPP1 WW domain binding protein protein-coding gene gene with protein product Approved 7p11.2 07p11.2 "ECop|GASP|FLJ20532|DKFZp564K0822|WBP1L2" "Glioblastoma-amplified secreted protein|EGFR-coamplified and overexpressed protein" "vesicular, overexpressed in cancer, prosurvival protein 1|VOPP1, WBP1/VOPP1 family member" WBP1/VOPP1 family 1564 2009-07-30 2019-01-31 2019-01-31 81552 ENSG00000154978 OTTHUMG00000156124 uc003tqs.5 NM_030796 "CCDS83187|CCDS64655|CCDS47588|CCDS64656|CCDS64654|CCDS83186" Q96AW1 "15735698|22120523" MGI:2141658 RGD:1306494 611915 HGNC:34518 "ENST00000285279.10|NM_030796.5" +HGNC:55874 VOPP1-DT VOPP1 divergent transcript non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Divergent transcripts 1990 2021-09-08 2021-09-08 105375287 ENSG00000223475 XR_007060330 +HGNC:12709 VPREB1 V-set pre-B cell surrogate light chain 1 protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "VpreB|CD179A" pre-B lymphocyte 1 "CD molecules|V-set domain containing" "471|590" 1988-08-31 2017-03-13 2017-03-13 7441 ENSG00000169575 OTTHUMG00000151042 uc002zvx.2 M34927 NM_001303509 "CCDS13798|CCDS77657" P12018 3139558 MGI:98936 RGD:1588558 605141 CD179a HGNC:12709 "ENST00000403807.4|NM_007128.4" +HGNC:12710 VPREB3 V-set pre-B cell surrogate light chain 3 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 8HS20 pre-B lymphocyte 3 V-set domain containing 590 1999-09-09 2017-03-13 2017-03-13 29802 ENSG00000128218 OTTHUMG00000150738 uc002zxt.4 NM_013378 CCDS13813 Q9UKI3 "10702669|14670953" MGI:98938 RGD:1306807 605017 HGNC:12710 "ENST00000248948.4|NM_013378.3" +HGNC:13488 VPS4A vacuolar protein sorting 4 homolog A protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "VPS4|VPS4-1|FLJ22197|SKD2|SKD1|SKD1A" "vacuolar protein sorting 4A (yeast homolog)|vacuolar protein sorting 4A (yeast)|vacuolar protein sorting 4 homolog A (S. cerevisiae)" "AAA ATPases|ESCRT-IV" "413|1120" 2002-06-12 2016-04-05 2016-04-05 27183 ENSG00000132612 OTTHUMG00000175589 uc002eww.4 AF112215 NM_013245 CCDS45517 Q9UN37 "10637304|11563910" MGI:1890520 RGD:628810 609982 HGNC:13488 "ENST00000254950.13|NM_013245.3" HGNC:13488 +HGNC:10895 VPS4B vacuolar protein sorting 4 homolog B protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "VPS4-2|SKD1B" SKD1 "suppressor of K+ transport defect 1|vacuolar protein sorting 4B (yeast)|vacuolar protein sorting 4 homolog B (S. cerevisiae)" "AAA ATPases|ESCRT-IV" "413|1120" 1999-07-22 2002-06-14 2016-04-05 2016-04-05 9525 ENSG00000119541 OTTHUMG00000132790 uc002lix.4 AF038960 NM_004869 CCDS11983 O75351 11563910 MGI:1100499 RGD:1305969 609983 HGNC:10895 "ENST00000238497.10|NM_004869.4" HGNC:10895 +HGNC:29122 VPS8 VPS8 subunit of CORVET complex protein-coding gene gene with protein product Approved 3q27.2 03q27.2 FLJ32099 KIAA0804 "KIAA0804|vacuolar protein sorting 8 homolog (S. cerevisiae)|VPS8, CORVET complex subunit" "Ring finger proteins|CORVET complex" "58|1532" 2005-02-25 2006-07-07 2019-01-25 2021-05-26 23355 ENSG00000156931 OTTHUMG00000156707 uc062qxe.1 AK056661 NM_015303 "CCDS46971|CCDS46972" Q8N3P4 "9872452|28931724" MGI:2146407 RGD:1309443 618366 HGNC:29122 "ENST00000625842.3|NM_001009921.3" HGNC:29122 +HGNC:13526 VPS9D1 VPS9 domain containing 1 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 ATP-BL C16orf7 chromosome 16 open reading frame 7 VPS9 domain containing 928 2000-09-20 2012-10-09 2012-10-09 2014-11-18 9605 ENSG00000075399 OTTHUMG00000173219 uc002fom.2 AB018551 NM_004913 CCDS42220 Q9Y2B5 10231027 MGI:1914143 RGD:1565149 619292 HGNC:13526 "ENST00000389386.8|NM_004913.3" +HGNC:48915 VPS9D1-AS1 VPS9D1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 MYU c-Myc-upregulated lncRNA Antisense RNAs 1987 2013-07-01 2017-03-15 100128881 ENSG00000261373 OTTHUMG00000173220 NR_036480 27568568 VPS9D1-AS1 HGNC:48915 +HGNC:14583 VPS11 VPS11 core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "RNF108|PEP5" "vacuolar protein sorting 11 (yeast homolog)|vacuolar protein sorting 11 homolog (S. cerevisiae)|VPS11, CORVET/HOPS core subunit" "Ring finger proteins|HOPS complex|CORVET complex" "58|1531|1532" 2001-02-08 2019-01-25 2021-05-26 55823 ENSG00000160695 OTTHUMG00000166355 uc058iep.1 AB027508 NM_021729 "CCDS73404|CCDS76485" Q9H270 26463206 MGI:1918982 RGD:1308038 608549 476835 HGNC:14583 "ENST00000621676.5|NM_021729.6" HGNC:14583 +HGNC:55227 VPS11-DT VPS11 divergent transcript non-coding RNA RNA, long non-coding Approved 11q23.3 11q23.3 TCONS_00019777 Divergent transcripts 1990 2020-09-15 2020-09-15 118597841 ENSG00000272186 +HGNC:1908 VPS13A vacuolar protein sorting 13 homolog A protein-coding gene gene with protein product Approved 9q21.2 09q21.2 KIAA0986 chorein CHAC "chorea acanthocytosis|vacuolar protein sorting 13A (yeast)|vacuolar protein sorting 13 homolog A (S. cerevisiae)" 1997-06-12 2004-02-11 2016-04-05 2021-05-26 23230 ENSG00000197969 OTTHUMG00000020055 uc004akr.4 AB023203 NM_015186 "CCDS6656|CCDS55321|CCDS47983|CCDS6655" Q96RL7 "9382101|11381253" MGI:2444304 RGD:1311340 605978 120472 HGNC:1908 "ENST00000360280.8|NM_033305.3" HGNC:1908 +HGNC:44167 VPS13A-AS1 VPS13A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 9q21.2 09q21.2 VPS13A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2012-10-12 100286938 ENSG00000232998 OTTHUMG00000020054 uc022bij.2 "AA954471|DB509755" NR_026668 VPS13A-AS1 HGNC:44167 +HGNC:2183 VPS13B vacuolar protein sorting 13 homolog B protein-coding gene gene with protein product Approved 8q22.2 08q22.2 "CHS1|COH1" "Cohen syndrome 1|vacuolar protein sorting 13 homolog B (yeast)" 1993-12-15 2005-04-08 2016-05-04 2021-05-26 157680 ENSG00000132549 OTTHUMG00000140383 uc003yiv.5 AJ608772 NM_017890 "CCDS6280|CCDS47903|CCDS6281|CCDS6283" Q7Z7G8 "7920642|15498460" MGI:1916380 RGD:1311183 LRG_351|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_351.xml 607817 120476 HGNC:2183 "ENST00000357162.7|NM_152564.5" HGNC:2183 +HGNC:54375 VPS13B-DT VPS13B divergent transcript non-coding RNA RNA, long non-coding Approved 8q22.2 08q22.2 OLC8 oncogenic long non‐coding RNA on chromosome 8 Divergent transcripts 1990 2019-05-17 2019-07-11 105375666 ENSG00000253948 XR_007061025 31273847 HGNC:54375 +HGNC:23594 VPS13C vacuolar protein sorting 13 homolog C protein-coding gene gene with protein product Approved 15q22.2 15q22.2 "FLJ20136|FLJ10381|KIAA1421" "vacuolar protein sorting 13C (yeast)|vacuolar protein sorting 13 homolog C (S. cerevisiae)" 2004-02-10 2016-04-05 2021-05-26 54832 ENSG00000129003 OTTHUMG00000132801 uc002aha.4 AJ608770 NM_017684 "CCDS10180|CCDS32257|CCDS45272|CCDS58367" Q709C8 MGI:2444207 RGD:1560364 608879 456083 HGNC:23594 "ENST00000644861.2|NM_020821.3" HGNC:23594 +HGNC:55425 VPS13C-DT VPS13C divergent transcript non-coding RNA RNA, long non-coding Approved 15q22.2 15q22.2 Divergent transcripts 1990 2021-01-07 2021-01-07 101928907 ENSG00000259251 NR_135690 +HGNC:23595 VPS13D vacuolar protein sorting 13 homolog D protein-coding gene gene with protein product Approved 1p36.22-p36.21 01p36.22-p36.21 "FLJ10619|KIAA0453" "vacuolar protein sorting 13D (yeast)|vacuolar protein sorting 13 homolog D (S. cerevisiae)" Small nucleolar RNA protein coding host genes 1835 2004-02-10 2016-04-05 2021-05-26 55187 ENSG00000048707 OTTHUMG00000013155 uc031tou.2 AJ608774 NM_015378 "CCDS30589|CCDS30588" Q5THJ4 MGI:2448530 RGD:1308403 LRG_1213|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1213.xml 608877 HGNC:23595 "ENST00000620676.6|NM_015378.4" HGNC:23595 +HGNC:14584 VPS16 VPS16 core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 20p13 20p13 "vacuolar protein sorting 16 homolog (S. cerevisiae)|VPS16, CORVET/HOPS core subunit" "HOPS complex|CORVET complex" "1531|1532" 2001-02-08 2009-07-07 2019-01-25 2021-11-15 64601 ENSG00000215305 OTTHUMG00000031714 uc002whe.5 AF308801 NM_022575 "CCDS13036|CCDS13037" Q9H269 "26463206|25783203" MGI:2136772 RGD:1359414 608550 HGNC:14584 "ENST00000380445.8|NM_022575.4" HGNC:14584 +HGNC:15972 VPS18 VPS18 core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "KIAA1475|PEP3" "vacuolar protein sorting protein 18|vacuolar protein sorting 18 homolog (S. cerevisiae)|VPS18, CORVET/HOPS core subunit" "HOPS complex|CORVET complex" "1531|1532" 2001-06-25 2019-01-25 2019-01-25 57617 ENSG00000104142 OTTHUMG00000130135 uc001zne.3 AF308802 NM_020857 CCDS10069 Q9P253 "11250079|16203730|26463206" MGI:2443626 RGD:1311556 608551 HGNC:15972 "ENST00000220509.10|NM_020857.3" +HGNC:28122 VPS25 vacuolar protein sorting 25 homolog protein-coding gene gene with protein product Approved 17q21.31 17q21.31 "MGC10540|EAP20|DERP9" "vacuolar protein sorting 25 (yeast)|vacuolar protein sorting 25 homolog (S. cerevisiae)" ESCRT-II 1117 2005-08-02 2016-04-05 2016-04-05 84313 ENSG00000131475 OTTHUMG00000180649 uc002ibi.5 AB014763 NM_032353 CCDS11438 Q9BRG1 15511219 MGI:106354 RGD:1584685 610907 HGNC:28122 "ENST00000253794.7|NM_032353.4" +HGNC:44250 VPS25P1 VPS25 pseudogene 1 pseudogene pseudogene Approved 1p12 01p12 vacuolar protein sorting 25 homolog (S. cerevisiae) pseudogene 1 2012-07-25 2013-09-13 2013-09-13 441899 ENSG00000226755 OTTHUMG00000012148 NG_022801 PGOHUM00000244868 HGNC:44250 +HGNC:12711 VPS26A VPS26, retromer complex component A protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "Hbeta58|PEP8A" VPS26 "vacuolar protein sorting 26 (yeast homolog)|vacuolar protein sorting 26 homolog A (S. pombe)" 2000-03-15 2005-10-11 2016-06-06 2016-10-05 9559 ENSG00000122958 OTTHUMG00000018376 uc001jpb.4 AF054179 NM_004896 "CCDS7286|CCDS41536" O75436 "1638986|9653160|16732284" MGI:1353654 RGD:1359254 605506 HGNC:12711 "ENST00000263559.11|NM_004896.5" +HGNC:44611 VPS26AP1 VPS26A pseudogene 1 pseudogene pseudogene Approved 3q13.31 03q13.31 vacuolar protein sorting 26 homolog A (S. pombe) pseudogene 1 2012-11-19 2013-09-13 2013-09-13 100421731 ENSG00000240375 OTTHUMG00000159341 NG_025727 PGOHUM00000238136 HGNC:44611 +HGNC:28119 VPS26B VPS26, retromer complex component B protein-coding gene gene with protein product Approved 11q25 11q25 "MGC10485|Pep8b" vacuolar protein sorting 26 homolog B (S. pombe) 2005-10-11 2016-06-06 2016-06-06 112936 ENSG00000151502 OTTHUMG00000167175 uc001qhe.4 NM_052875 CCDS8495 Q4G0F5 "16190980|21920005" MGI:1917656 RGD:1597170 610027 HGNC:28119 "ENST00000281187.10|NM_052875.5" +HGNC:44612 VPS26BP1 VPS26B pseudogene 1 pseudogene pseudogene Approved 3p21.31 03p21.31 vacuolar protein sorting 26 homolog B (S. pombe) pseudogene 1 2012-11-19 2013-09-13 2013-09-13 100421729 ENSG00000224895 OTTHUMG00000156831 NG_052840 PGOHUM00000237617 HGNC:44612 +HGNC:3044 VPS26C VPS26 endosomal protein sorting factor C protein-coding gene gene with protein product Approved 21q22.13 21q22.13 DCRA DSCR3 "Down syndrome critical region 3|DSCR3 arrestin fold containing" Retriever complex 1556 2000-03-06 2018-01-16 2018-01-16 2018-01-16 10311 ENSG00000157538 OTTHUMG00000086659 uc002ywf.2 D87343 NM_001331018 "CCDS82673|CCDS33553|CCDS82671|CCDS82672" O14972 "9399594|19794886|21502137|28892079" MGI:1206040 RGD:1306879 605298 HGNC:3044 "ENST00000309117.11|NM_006052.2" +HGNC:54684 VPS26CP1 VPS26C pseudogene 1 pseudogene pseudogene Approved 2q33.3 02q33.3 2019-11-27 2019-11-27 100420893 ENSG00000213083 NG_023655 +HGNC:18178 VPS28 VPS28 subunit of ESCRT-I protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "vacuolar protein sorting 28 (yeast)|vacuolar protein sorting 28 homolog (S. cerevisiae)|VPS28, ESCRT-I subunit" ESCRT-I 1116 2002-02-13 2019-01-31 2019-01-31 51160 ENSG00000160948 OTTHUMG00000165209 uc003zcs.2 AF316887 NM_016208 "CCDS34967|CCDS6425" Q9UK41 MGI:1914164 RGD:1306537 611952 HGNC:18178 "ENST00000292510.6|NM_016208.4" +HGNC:14340 VPS29 VPS29 retromer complex component protein-coding gene gene with protein product Approved 12q24.11 12q24.11 "PEP11|DC7|DC15" "vacuolar protein sorting 29 homolog (S. cerevisiae)|VPS29, retromer complex component" Retriever complex 1556 2001-01-04 2019-01-25 2019-01-25 51699 ENSG00000111237 OTTHUMG00000169527 uc001tqy.5 AF193795 NM_001282150 "CCDS73525|CCDS53832|CCDS41832" Q9UBQ0 "11062004|21629666" MGI:1928344 RGD:1308332 606932 HGNC:14340 "ENST00000549578.6|NM_016226.5" +HGNC:18179 VPS33A VPS33A core subunit of CORVET and HOPS complexes protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "vacuolar protein sorting 33A (yeast)|vacuolar protein sorting 33 homolog A (S. cerevisiae)|VPS33A, CORVET/HOPS core subunit" "HOPS complex|CORVET complex" "1531|1532" 2002-02-13 2019-01-25 2021-05-26 65082 ENSG00000139719 OTTHUMG00000168920 uc001ucd.4 AK026048 NM_001351018 "CCDS9231|CCDS86339" Q96AX1 "11250079|26463206" MGI:1924823 RGD:620643 610034 HGNC:18179 "ENST00000267199.9|NM_022916.6" HGNC:18179 +HGNC:12712 VPS33B VPS33B late endosome and lysosome associated protein-coding gene gene with protein product Approved 15q26.1 15q26.1 FLJ14848 "vacuolar protein sorting 33B (yeast homolog)|vacuolar protein sorting 33 homolog B (yeast)|VPS33B, late endosome and lysosome associated" 1999-11-19 2019-01-25 2021-05-26 26276 ENSG00000184056 OTTHUMG00000149835 uc002bqp.3 AF201694 NM_018668 "CCDS73783|CCDS10369" Q9H267 "8996080|26403612" MGI:2446237 RGD:620644 LRG_884|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_884.xml 608552 120480 HGNC:12712 "ENST00000333371.8|NM_018668.5" HGNC:12712 +HGNC:51413 VPS33B-DT VPS33B divergent transcript non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 Divergent transcripts 1990 2017-08-03 2017-08-03 101926911 ENSG00000214432 OTTHUMG00000171687 AK055351 NR_110104 27716329 HGNC:51413 +HGNC:13487 VPS35 VPS35 retromer complex component protein-coding gene gene with protein product Approved 16q11.2 16q11.2 "FLJ10752|MEM3|PARK17" "vacuolar protein sorting 35 homolog (S. cerevisiae)|VPS35, retromer complex component" Armadillo like helical domain containing 1492 2001-06-25 2019-01-25 2021-05-26 55737 ENSG00000069329 OTTHUMG00000132542 uc002eef.5 AF175265 NM_018206 CCDS10721 Q96QK1 "11112353|21763482" MGI:1890467 RGD:1589784 601501 285081 HGNC:13487 "ENST00000299138.12|NM_018206.6" HGNC:13487 +HGNC:24641 VPS35L VPS35 endosomal protein sorting factor like protein-coding gene gene with protein product Approved 16p12.3 16p12.3 MGC16824 C16orf62 chromosome 16 open reading frame 62 Retriever complex 1556 2007-10-22 2018-01-16 2018-01-16 2018-01-16 57020 ENSG00000103544 OTTHUMG00000167925 uc059rnn.1 NM_020314 "CCDS32397|CCDS73840" Q7Z3J2 "10493829|25355947|28892079" MGI:1918767 RGD:1564485 618981 HGNC:24641 "ENST00000417362.7|NM_020314.7" HGNC:24641 +HGNC:51805 VPS35P1 VPS35 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 "vacuolar protein sorting 35 homolog (S. cerevisiae) pseudogene 1|VPS35, retromer complex component pseudogene 1" 2015-06-09 2019-01-25 2019-01-25 100422055 ENSG00000260809 OTTHUMG00000176657 NG_026414 PGOHUM00000293829 HGNC:51805 +HGNC:20312 VPS36 vacuolar protein sorting 36 homolog protein-coding gene gene with protein product Approved 13q14.3 13q14.3 "CGI-145|Eap45" C13orf9 "chromosome 13 open reading frame 9|vacuolar protein sorting 36 homolog (yeast)|vacuolar protein sorting 36 homolog (S. cerevisiae)" ESCRT-II 1117 2003-01-24 2005-08-02 2016-04-05 2016-10-05 51028 ENSG00000136100 OTTHUMG00000016964 uc001vgs.5 AF151903 NM_001282168 "CCDS73577|CCDS9434" Q86VN1 "11278625|15755741" MGI:1917410 RGD:1309754 610903 HGNC:20312 "ENST00000378060.9|NM_016075.4" +HGNC:24928 VPS37A VPS37A subunit of ESCRT-I protein-coding gene gene with protein product Approved 8p22 08p22 "FLJ32642|HCRP1|SPG53" hepatocellular carcinoma related protein 1 PQBP2 "vacuolar protein sorting 37A (yeast)|polyglutamine binding protein 2|vacuolar protein sorting 37 homolog A (S. cerevisiae)" ESCRT-I 1116 2005-09-08 2019-01-31 2021-05-26 137492 ENSG00000155975 OTTHUMG00000130785 uc003wxj.4 NM_152415 "CCDS6001|CCDS47811" Q8NEZ2 "15240819|15218037|22717650" MGI:1261835 RGD:1560016 609927 324251 HGNC:24928 "ENST00000324849.9|NM_152415.3" HGNC:24928 +HGNC:25754 VPS37B VPS37B subunit of ESCRT-I protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ12750 "vacuolar protein sorting 37B (yeast)|vacuolar protein sorting 37 homolog B (S. cerevisiae)" ESCRT-I 1116 2005-08-17 2019-01-31 2019-01-31 79720 ENSG00000139722 OTTHUMG00000168767 uc001udl.4 AK022812 NM_024667 CCDS9239 Q9H9H4 15218037 MGI:1916724 RGD:1304576 610037 HGNC:25754 "ENST00000267202.7|NM_024667.3" +HGNC:26097 VPS37C VPS37C subunit of ESCRT-I protein-coding gene gene with protein product Approved 11q12.2 11q12.2 FLJ20847 "vacuolar protein sorting 37C (yeast)|vacuolar protein sorting 37 homolog C (S. cerevisiae)" ESCRT-I 1116 2005-08-17 2019-01-31 2019-01-31 55048 ENSG00000167987 OTTHUMG00000167826 uc001nqv.2 AK097326 NM_017966 CCDS31573 A5D8V6 15509564 MGI:2147661 RGD:11384366 610038 HGNC:26097 "ENST00000301765.10|NM_017966.5" +HGNC:18287 VPS37D VPS37D subunit of ESCRT-I protein-coding gene gene with protein product Approved 7q11.23 07q11.23 MGC35352 WBSCR24 "Williams Beuren syndrome chromosome region 24|vacuolar protein sorting 37D (yeast)|vacuolar protein sorting 37 homolog D (S. cerevisiae)" ESCRT-I 1116 2002-03-05 2005-08-18 2019-01-31 2019-01-31 155382 ENSG00000176428 OTTHUMG00000157227 uc003tyr.4 AY081952 NM_152560 CCDS43596 Q86XT2 15218037 MGI:2159402 RGD:1587769 610039 HGNC:18287 "ENST00000324941.5|NM_001077621.2" +HGNC:20593 VPS39 VPS39 subunit of HOPS complex protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "KIAA0770|VAM6" "vacuolar protein sorting 39 (yeast)|vacuolar protein sorting 39 homolog (S. cerevisiae)|VPS39, HOPS complex subunit" "HOPS complex|MicroRNA protein coding host genes" "1531|1691" 2003-09-04 2019-01-25 2021-09-03 23339 ENSG00000166887 OTTHUMG00000130467 uc001zpc.4 AF280814 NM_015289 "CCDS10083|CCDS73710" Q96JC1 "11448994|26463206" MGI:2443189 RGD:1304858 612188 HGNC:20593 "ENST00000318006.10|NM_015289.5" +HGNC:55378 VPS39-DT VPS39 divergent transcript non-coding RNA RNA, long non-coding Approved 15q15.1 15q15.1 Divergent transcripts 1990 2020-11-12 2020-11-12 105370795 ENSG00000261002 XR_932179 +HGNC:12713 VPS41 VPS41 subunit of HOPS complex protein-coding gene gene with protein product Approved 7p14.1 07p14.1 HVSP41 "vacuolar protein sorting 41 (yeast homolog)|vacuolar protein sorting 41 (yeast)|vacuolar protein sorting 41 homolog (S. cerevisiae)|VPS41, HOPS complex subunit" "Ring finger proteins|HOPS complex" "58|1531" 2000-01-31 2019-01-25 2021-09-03 27072 ENSG00000006715 OTTHUMG00000023629 uc003tgy.4 U87309 NM_014396 "CCDS5458|CCDS5457" P49754 "9159129|26463206|11412045" MGI:1929215 RGD:1560511 605485 HGNC:12713 "ENST00000310301.9|NM_014396.4" HGNC:12713 +HGNC:14579 VPS45 vacuolar protein sorting 45 homolog protein-coding gene gene with protein product Approved 1q21.2 01q21.2 "h-vps45|H1" "VPS45B|VPS45A" "vacuolar protein sorting 45A (yeast homolog)|vacuolar protein sorting 45A (yeast)|vacuolar protein sorting 45 homolog (S. cerevisiae)" 2001-02-08 2006-12-19 2016-04-05 2021-05-26 11311 ENSG00000136631 OTTHUMG00000012511 uc001etp.5 U35246 NM_007259 "CCDS60244|CCDS86017|CCDS944" Q9NRW7 8996080 MGI:891965 RGD:621267 LRG_1170|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1170.xml 610035 376411 HGNC:14579 "ENST00000644510.2|NM_007259.5" HGNC:14579 +HGNC:25956 VPS50 VPS50 subunit of EARP/GARPII complex protein-coding gene gene with protein product Approved 7q21.2-q21.3 07q21.2-q21.3 "KIAA1861|FLJ20097|DKFZp313I2429|VPS54L" syndetin CCDC132 "coiled-coil domain containing 132|VPS50, EARP/GARPII complex subunit" Endosome-associated recycling protein (EARP) complex 1423 2006-09-01 2015-06-29 2019-01-25 2019-01-25 55610 ENSG00000004766 OTTHUMG00000131733 "AL833112|AK055965|AL832393" NM_017667 "CCDS5630|CCDS43617|CCDS59065" Q96JG6 "11347906|25453831|25799061" MGI:1920538 RGD:1304751 616465 HGNC:25956 "ENST00000305866.10|NM_017667.4" +HGNC:1172 VPS51 VPS51 subunit of GARP complex protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "ANG2|ANG3|FFR" fat-free homolog (zebrafish) "C11orf3|C11orf2" "chromosome 11 open reading frame 3|chromosome 11 open reading frame 2|vacuolar protein sorting 51 homolog (S. cerevisiae)|VPS51, GARP complex subunit" "Endosome-associated recycling protein (EARP) complex|Golgi associated retrograde protein (GARP) complex" "1423|1424" 1998-08-06 2012-07-19 2019-01-25 2020-09-17 738 ENSG00000149823 OTTHUMG00000165600 uc001ocr.3 AF024631 NM_013265 CCDS8093 Q9UID3 "9286704|20685960" MGI:1915755 RGD:2319165 615738 HGNC:1172 "ENST00000279281.8|NM_013265.4" HGNC:1172 +HGNC:10518 VPS52 VPS52 subunit of GARP complex protein-coding gene gene with protein product Approved 6p21.32 06p21.32 ARE1 SACM2L "SAC2 suppressor of actin mutations 2-like (yeast)|vacuolar protein sorting 52 (yeast)|vacuolar protein sorting 52 homolog (S. cerevisiae)|VPS52, GARP complex subunit" "Endosome-associated recycling protein (EARP) complex|Golgi associated retrograde protein (GARP) complex" "1423|1424" 1998-03-25 2003-09-05 2019-01-25 2019-01-25 6293 ENSG00000223501 OTTHUMG00000031276 uc011izy.4 AJ223319 NM_022553 CCDS4770 Q8N1B4 "9790748|15878329" MGI:1330304 RGD:3618 603443 HGNC:10518 "ENST00000445902.3|NM_022553.6" +HGNC:25608 VPS53 VPS53 subunit of GARP complex protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ10979|HCCS1" hepatocellular carcinoma suppressor 1 "vacuolar protein sorting 53 (yeast)|vacuolar protein sorting 53 homolog (S. cerevisiae)|VPS53, GARP complex subunit" "Endosome-associated recycling protein (EARP) complex|Golgi associated retrograde protein (GARP) complex" "1423|1424" 2005-11-29 2019-01-25 2021-05-26 55275 ENSG00000141252 OTTHUMG00000177441 uc002frm.3 NM_018289 "CCDS10995|CCDS45558" Q5VIR6 15878329 MGI:1915549 RGD:1311391 615850 401564 HGNC:25608 "ENST00000437048.7|NM_001128159.3" HGNC:25608 +HGNC:18652 VPS54 VPS54 subunit of GARP complex protein-coding gene gene with protein product Approved 2p15-p14 02p15-p14 "HCC8|PPP1R164" protein phosphatase 1, regulatory subunit 164 "vacuolar protein sorting 54 (yeast)|vacuolar protein sorting 54 homolog (S. cerevisiae)|VPS54, GARP complex subunit" "Protein phosphatase 1 regulatory subunits|Golgi associated retrograde protein (GARP) complex" "694|1424" 2003-09-04 2019-01-25 2019-01-25 51542 ENSG00000143952 OTTHUMG00000152627 uc002scq.4 AF102177 NM_016516 "CCDS46302|CCDS33208" Q9P1Q0 "12039048|15878329" MGI:2178798 RGD:628718 614633 HGNC:18652 "ENST00000272322.9|NM_016516.3" +HGNC:11644 VPS72 vacuolar protein sorting 72 homolog protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "YL-1|YL1|Swc2" TCFL1 "transcription factor-like 1|vacuolar protein sorting 72 (yeast)|vacuolar protein sorting 72 homolog (S. cerevisiae)" "SRCAP complex|Tip60/Nua4 histone acetyltransferase complex subunits" "1329|1634" 1995-12-08 2005-09-08 2016-04-05 2016-10-05 6944 ENSG00000163159 OTTHUMG00000012345 uc001exe.3 D43642 NM_005997 "CCDS989|CCDS59201" Q15906 7702631 MGI:1202305 RGD:1306121 600607 HGNC:11644 "ENST00000368892.9|NM_005997.3" +HGNC:12718 VRK1 VRK serine/threonine kinase 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 vaccinia related kinase 1 1997-06-12 2018-08-16 2021-05-26 7443 ENSG00000100749 OTTHUMG00000171459 uc001yft.4 AB000449 NM_003384 CCDS9947 Q99986 9344656 MGI:1261847 RGD:1306069 602168 208345 objectId:2275 HGNC:12718 "ENST00000216639.8|NM_003384.3" HGNC:12718 +HGNC:12719 VRK2 VRK serine/threonine kinase 2 protein-coding gene gene with protein product Approved 2p16.1 02p16.1 vaccinia related kinase 2 1997-06-12 2018-08-16 2018-08-16 7444 ENSG00000028116 OTTHUMG00000129348 uc002rzo.3 AK058199 NM_006296 "CCDS1859|CCDS46291|CCDS46292" Q86Y07 MGI:1917172 RGD:1311585 602169 objectId:2276 HGNC:12719 "ENST00000340157.9|NM_006296.7" +HGNC:18996 VRK3 VRK serine/threonine kinase 3 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 vaccinia related kinase 3 2003-08-18 2018-08-16 2020-03-09 51231 ENSG00000105053 OTTHUMG00000183053 uc002prg.3 AB031052 NM_016440 "CCDS12791|CCDS77334|CCDS33076" Q8IV63 "19141289|25899223" MGI:2182465 RGD:1549692 619771 objectId:2277 HGNC:18996 "ENST00000316763.8|NM_016440.4" +HGNC:20223 VRTN vertebrae development associated protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "FLJ10811|vertnin" C14orf115 "chromosome 14 open reading frame 115|vertebrae development homolog (pig)" 2003-01-15 2010-10-20 2012-12-07 2016-10-05 55237 ENSG00000133980 OTTHUMG00000171208 uc001xpw.5 AK001673 NM_018228 CCDS9830 Q9H8Y1 21232157 MGI:3588197 RGD:1587174 HGNC:20223 "ENST00000256362.5|NM_018228.3" +HGNC:28675 VSIG1 V-set and immunoglobulin domain containing 1 protein-coding gene gene with protein product Approved Xq22.3 Xq22.3 "MGC44287|GPA34" glycoprotein A34 "V-set domain containing|IgCAM CXADR-related subfamily" "590|1414" 2004-09-02 2020-04-02 340547 ENSG00000101842 OTTHUMG00000022175 uc004eno.4 BX648658 NM_182607 "CCDS55474|CCDS14535" Q86XK7 "20957455|28603843" MGI:1926039 RGD:1565570 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VSIG1 300620 HGNC:28675 "ENST00000217957.10|NM_182607.5" +HGNC:17149 VSIG2 V-set and immunoglobulin domain containing 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 "CTXL|CTH" "V-set domain containing|I-set domain containing|IgCAM CXADR-related subfamily" "590|593|1414" 2004-09-02 2016-10-05 23584 ENSG00000019102 OTTHUMG00000150357 uc001qas.4 AF061022 NM_014312 "CCDS8452|CCDS86258" Q96IQ7 9862345 MGI:1928009 RGD:1561274 606011 HGNC:17149 "ENST00000326621.10|NM_014312.5" +HGNC:17032 VSIG4 V-set and immunoglobulin domain containing 4 protein-coding gene gene with protein product Approved Xq12 Xq12 "Z39IG|CRIg" complement receptor of the immunoglobulin superfamily "V-set domain containing|Complement system regulators and receptors" "590|1639" 2004-09-10 2020-04-02 11326 ENSG00000155659 OTTHUMG00000021727 uc004dwh.3 AJ132502 NM_007268 "CCDS48132|CCDS55435|CCDS14383" Q9Y279 "11004523|17016555|17016562" MGI:2679720 RGD:1564659 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/VSIG4 300353 HGNC:17032 "ENST00000374737.9|NM_007268.3" +HGNC:32063 VSIG8 V-set and immunoglobulin domain containing 8 protein-coding gene gene with protein product Approved 1q23.2 01q23.2 "V-set domain containing|IgCAM CXADR-related subfamily" "590|1414" 2005-12-01 2015-09-03 391123 ENSG00000243284 OTTHUMG00000168834 uc001fuh.3 NM_001013661 CCDS30913 P0DPA2 MGI:3642995 RGD:1562464 HGNC:32063 "ENST00000368100.1|NM_001013661.1" +HGNC:26078 VSIG10 V-set and immunoglobulin domain containing 10 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "V-set domain containing|I-set domain containing" "590|593" 2009-09-09 2019-03-21 54621 ENSG00000176834 OTTHUMG00000168835 uc001tws.4 NM_019086 CCDS44992 Q8N0Z9 26458842 MGI:2448533 RGD:1565800 HGNC:26078 "ENST00000359236.10|NM_019086.6" +HGNC:27111 VSIG10L V-set and immunoglobulin domain containing 10 like protein-coding gene gene with protein product Approved 19q13.41 19q13.41 Immunoglobulin like domain containing 594 2009-09-09 2019-03-21 147645 ENSG00000186806 OTTHUMG00000182975 uc002pwf.4 NM_001163922 CCDS54300 Q86VR7 27467440 MGI:1922940 RGD:1564982 617740 HGNC:27111 "ENST00000335624.5|NM_001163922.3" +HGNC:55282 VSIG10L-AS1 VSIG10L antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2020-10-09 2020-10-09 118827807 ENSG00000267905 +HGNC:27879 VSIG10L2 V-set and immunoglobulin domain containing 10 like 2 protein-coding gene gene with protein product Approved 11q24.2 11q24.2 2017-03-31 2017-03-31 338667 ENSG00000283703 OTTHUMG00000165861 NM_001365077 P0DP72 12477932 MGI:2685959 RGD:11474175 HGNC:27879 "ENST00000686984.1|NM_001365077.2" +HGNC:30085 VSIR V-set immunoregulatory receptor protein-coding gene gene with protein product Approved 10q22.1 10q22.1 "SISP1|GI24|B7-H5|B7H5|VISTA|PD-1H|Dies1" "stress induced secreted protein 1|V-domain Ig suppressor of T cell activation|PDCD1 homolog" C10orf54 chromosome 10 open reading frame 54 "V-set domain containing|B7 family" "590|1824" 2005-10-06 2016-11-24 2016-11-24 2019-03-06 64115 ENSG00000107738 OTTHUMG00000018426 uc001jsd.5 AF193048 NM_022153 CCDS31218 Q9H7M9 "12975309|24691993|25279955" MGI:1921298 RGD:1590938 615608 objectId:2956 HGNC:30085 "ENST00000394957.8|NM_022153.2" +HGNC:12722 VSNL1 visinin like 1 protein-coding gene gene with protein product Approved 2p24.2 02p24.2 "VILIP|HPCAL3|HUVISL1|HLP3|VILIP-1" hippocalcin-like protein 3 EF-hand domain containing 863 1994-11-02 2015-11-12 2016-10-05 7447 ENSG00000163032 OTTHUMG00000090645 uc061gwj.1 NM_003385 CCDS1689 P62760 "8530085|2202488" MGI:1349453 RGD:3966 600817 HGNC:12722 "ENST00000295156.9|NM_003385.5" +HGNC:29455 VSTM1 V-set and transmembrane domain containing 1 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 UNQ3033 Immunoglobulin like domain containing 594 2006-08-02 2014-11-18 284415 ENSG00000189068 OTTHUMG00000064906 uc002qcw.5 AY358542 NM_198481 "CCDS74441|CCDS12872|CCDS74442" Q6UX27 12975309 RGD:2322891 616804 HGNC:29455 "ENST00000338372.7|NM_198481.4" +HGNC:28499 VSTM2A V-set and transmembrane domain containing 2A protein-coding gene gene with protein product Approved 7p11.2 07p11.2 MGC33530 VSTM2 V-set and transmembrane domain containing 2 V-set domain containing 590 2006-09-12 2007-08-10 2007-08-10 2019-03-21 222008 ENSG00000170419 OTTHUMG00000129271 uc010kzf.4 BC028404 NM_182546 "CCDS75604|CCDS83185|CCDS5512" Q8TAG5 28052263 MGI:2384826 RGD:1596197 HGNC:28499 "ENST00000402613.4|NM_001301009.2" +HGNC:50770 VSTM2A-OT1 VSTM2A overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 7p11.2 07p11.2 Overlapping transcripts 1988 2014-06-18 2014-06-18 285878 ENSG00000224223 OTTHUMG00000156070 NR_038994 VSTM2A-OT1 HGNC:50770 +HGNC:33595 VSTM2B V-set and transmembrane domain containing 2B protein-coding gene gene with protein product Approved 19q12 19q12 V-set domain containing 590 2007-08-10 2015-08-26 342865 ENSG00000187135 OTTHUMG00000182002 uc010xrl.2 NM_001146339 CCDS46034 A6NLU5 MGI:1914525 RGD:1306235 HGNC:33595 "ENST00000335523.8|NM_001146339.2" +HGNC:27615 VSTM2B-DT VSTM2B divergent transcript non-coding RNA RNA, long non-coding Approved 19q12 19q12 Divergent transcripts 1990 2020-10-21 2020-10-21 2020-10-21 284395 ENSG00000264515 NR_040029 +HGNC:16096 VSTM2L V-set and transmembrane domain containing 2 like protein-coding gene gene with protein product Approved 20q11.23 20q11.23 dJ1118M15.2 C20orf102 chromosome 20 open reading frame 102 V-set domain containing 590 2001-07-17 2007-08-10 2007-08-10 2015-08-26 128434 ENSG00000132821 OTTHUMG00000032430 uc002xhk.5 AL109964 NM_080607 CCDS13299 Q96N03 MGI:2685537 RGD:1305725 616537 HGNC:16096 "ENST00000373461.9|NM_080607.3" +HGNC:26470 VSTM4 V-set and transmembrane domain containing 4 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 FLJ31737 C10orf72 chromosome 10 open reading frame 72 V-set domain containing 590 2004-02-05 2011-07-01 2011-07-01 2014-11-19 196740 ENSG00000165633 OTTHUMG00000018184 uc001jhf.4 BC041414 NM_144984 "CCDS7228|CCDS31198" Q8IW00 MGI:2444633 RGD:1310423 HGNC:26470 "ENST00000332853.9|NM_001031746.5" +HGNC:34443 VSTM5 V-set and transmembrane domain containing 5 protein-coding gene gene with protein product Approved 11q21 11q21 LOC387804 C11orf90 chromosome 11 open reading frame 90 V-set domain containing 590 2008-09-16 2011-07-01 2011-07-01 2015-08-26 387804 ENSG00000214376 OTTHUMG00000154159 uc010ruc.2 NM_001144871 CCDS44709 A8MXK1 16554811 MGI:1916387 RGD:1563328 HGNC:34443 "ENST00000409977.2|NM_001144871.2" +HGNC:12723 VSX1 visual system homeobox 1 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 "PPD|PPCD1" PPCD "posterior polymorphous corneal dystrophy|visual system homeobox 1 homolog, CHX10-like (zebrafish)" PRD class homeoboxes and pseudogenes 521 2000-03-14 2007-07-12 2021-05-26 30813 ENSG00000100987 OTTHUMG00000032111 uc002wuf.5 AF176797 NM_001256271 "CCDS13169|CCDS13168|CCDS58766|CCDS58767" Q9NZR4 10673340 MGI:1890816 RGD:1305667 605020 8525 120483 HGNC:12723 "ENST00000376709.9|NM_014588.6" HGNC:12723 +HGNC:1975 VSX2 visual system homeobox 2 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 RET1 "HOX10|CHX10" "C elegans ceh-10 homeo domain-containing homolog|ceh-10 homeo domain containing homolog (C. elegans)|ceh-10 homeodomain containing homolog (C. elegans)" PRD class homeoboxes and pseudogenes 521 1990-01-17 2007-08-21 2007-08-21 2021-05-26 338917 ENSG00000119614 OTTHUMG00000171206 uc001xpq.3 AC005519 NM_182894 CCDS9827 P58304 1973146 MGI:88401 RGD:621215 142993 8559 159362 HGNC:1975 "ENST00000261980.3|NM_182894.3" HGNC:1975 +HGNC:20954 VTA1 vesicle trafficking 1 protein-coding gene gene with protein product Approved 6q24.1-q24.2 06q24.1-q24.2 "HSPC228|My012" C6orf55 "chromosome 6 open reading frame 55|Vps20-associated 1 homolog (S. cerevisiae)|vesicle (multivesicular body) trafficking 1" ESCRT-IV 1120 2003-04-24 2007-04-03 2016-04-04 2018-02-13 51534 ENSG00000009844 OTTHUMG00000015707 uc003qiw.5 AF060225 NM_016485 "CCDS69214|CCDS5197|CCDS75531" Q9NP79 "11489251|15644320" MGI:1913451 RGD:1305031 610902 HGNC:20954 "ENST00000367630.9|NM_016485.5" +HGNC:50483 VTA1P1 vesicle trafficking 1 pseudogene 1 pseudogene pseudogene Approved 6q27 06q27 vesicle (multivesicular body) trafficking 1 pseudogene 1 2014-05-06 2016-12-14 2016-12-14 106481708 ENSG00000224999 OTTHUMG00000045407 NG_043284 PGOHUM00000243461 HGNC:50483 +HGNC:50484 VTA1P2 vesicle trafficking 1 pseudogene 2 pseudogene pseudogene Approved 8q21.3 08q21.3 vesicle (multivesicular body) trafficking 1 pseudogene 2 2014-05-06 2016-12-14 2016-12-14 100128412 ENSG00000253401 OTTHUMG00000163765 NG_022395 PGOHUM00000249422 HGNC:50484 +HGNC:28873 VTCN1 V-set domain containing T cell activation inhibitor 1 protein-coding gene gene with protein product Approved 1p13.1-p12 01p13.1-p12 "B7-H4|FLJ22418|B7S1|B7x|B7H4" "B7 family member, H4|B7 superfamily member 1" "V-set domain containing|B7 family" "590|1824" 2005-02-25 2017-12-06 2019-03-06 79679 ENSG00000134258 OTTHUMG00000012118 uc001ehb.4 BX648021 NM_024626 "CCDS58019|CCDS58020|CCDS894" Q7Z7D3 "12818165|12818166" MGI:3039619 RGD:1311204 608162 HGNC:28873 "ENST00000369458.8|NM_024626.4" +HGNC:17792 VTI1A vesicle transport through interaction with t-SNAREs 1A protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "MVti1|Vti1-rp2" vesicle transport through interaction with t-SNAREs homolog 1A (yeast) "SNAREs|MicroRNA protein coding host genes" "1124|1691" 2002-11-22 2012-12-10 2020-05-04 143187 ENSG00000151532 OTTHUMG00000019063 uc001kzz.5 BC017052 NM_001318203 CCDS7575 Q96AJ9 9446565 MGI:1855699 RGD:621490 614316 HGNC:17792 "ENST00000393077.3|NM_145206.4" +HGNC:17793 VTI1B vesicle transport through interaction with t-SNAREs 1B protein-coding gene gene with protein product Approved 14q24.1 14q24.1 VTI2 vesicle transport through interaction with t-SNAREs homolog 1B (yeast) SNAREs 1124 2002-11-22 2012-12-10 2016-10-05 10490 ENSG00000100568 OTTHUMG00000171251 uc001xjt.4 AF060902 NM_006370 CCDS9786 Q9UEU0 "9636656|9446565" MGI:1855688 RGD:2323682 603207 HGNC:17793 "ENST00000554659.6|NM_006370.3" +HGNC:43727 VTI1BP1 vesicle transport through interaction with t-SNAREs 1B pseudogene 1 pseudogene pseudogene Approved 3q12.1 03q12.1 vesicle transport through interaction with t-SNAREs homolog 1B (yeast) pseudogene 1 2012-02-10 2012-12-10 2012-12-10 391559 ENSG00000243974 OTTHUMG00000159057 NG_022260 PGOHUM00000238116 HGNC:43727 +HGNC:43728 VTI1BP2 vesicle transport through interaction with t-SNAREs 1B pseudogene 2 pseudogene pseudogene Approved 4q35.1 04q35.1 vesicle transport through interaction with t-SNAREs homolog 1B (yeast) pseudogene 2 2012-02-10 2012-12-10 2012-12-10 389246 ENSG00000213434 OTTHUMG00000160629 NG_005181 PGOHUM00000246153 HGNC:43728 +HGNC:43729 VTI1BP3 vesicle transport through interaction with t-SNAREs 1B pseudogene 3 pseudogene pseudogene Approved 12q13.13 12q13.13 vesicle transport through interaction with t-SNAREs homolog 1B (yeast) pseudogene 3 2012-02-10 2012-12-10 2012-12-10 100127976 ENSG00000258074 OTTHUMG00000170022 NG_021720 PGOHUM00000239791 HGNC:43729 +HGNC:43730 VTI1BP4 vesicle transport through interaction with t-SNAREs 1B pseudogene 4 pseudogene pseudogene Approved 9q34.11 09q34.11 vesicle transport through interaction with t-SNAREs homolog 1B (yeast) pseudogene 4 2012-02-10 2012-12-10 2012-12-10 100422540 ENSG00000227759 OTTHUMG00000020751 NG_034056 PGOHUM00000236776 HGNC:43730 +HGNC:12724 VTN vitronectin protein-coding gene gene with protein product Approved 17q11.2 17q11.2 VN "serum spreading factor|somatomedin B|complement S-protein" vitronectin (serum spreading factor, somatomedin B, complement S-protein) "Receptor ligands|Complement system regulators and receptors" "542|1639" 1992-07-30 2006-02-10 2014-11-18 7448 ENSG00000109072 OTTHUMG00000132500 uc002hbc.4 BC005046 NM_000638 CCDS11229 P04004 2447940 MGI:98940 RGD:3967 193190 ligandId:6746 HGNC:12724 "ENST00000226218.9|NM_000638.4" +HGNC:12654 VTRNA1-1 vault RNA 1-1 non-coding RNA RNA, vault Approved 5q31.3 05q31.3 "hvg-1|HVG1|vRNA|VR1" VAULTRC1 vault RNA component 1 Vault RNAs 852 2000-07-31 2009-03-23 2009-03-23 2020-05-04 56664 ENSG00000199990 uc011czv.2 "AF045143|BD247418" NR_026703 "9535882|19298825|19491402|30773316" 612695 HGNC:12654 +HGNC:12655 VTRNA1-2 vault RNA 1-2 non-coding RNA RNA, vault Approved 5q31.3 05q31.3 "hvg-2|HVG2|VR2" VAULTRC2 vault RNA component 2 Vault RNAs 852 2000-07-31 2009-03-23 2009-03-23 2020-05-04 56663 ENSG00000202111 uc011czw.2 "AF045144|BD247419" NR_026704 "9535882|19298825|19491402" 612696 HGNC:12655 +HGNC:12656 VTRNA1-3 vault RNA 1-3 non-coding RNA RNA, vault Approved 5q31.3 05q31.3 "hvg-3|HVG3|VR3" VAULTRC3 vault RNA component 3 Vault RNAs 852 2000-07-31 2009-03-23 2009-03-23 2020-05-04 56662 ENSG00000202515 uc011czx.2 AF045145 NR_026705 "9535882|19298825|19491402" 612697 HGNC:12656 +HGNC:37054 VTRNA2-1 vault RNA 2-1 non-coding RNA RNA, vault Approved 5q31.1 05q31.1 "vtRNA2|hvg-5|CBL-3|hsa-mir-886|nc886|pre-miR-886" "MIR886|MIRN886|VTRNA2" "microRNA 886|vault RNA 2" Vault RNAs 852 2009-03-23 2011-04-11 2011-04-11 2021-10-15 100126299 ENSG00000270123 OTTHUMG00000183992 uc021ydy.2 NR_030583 "19298825|19491402|22926522|22058117" LRG_1104|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1104.xml 614938 HGNC:37054 +HGNC:46889 VTRNA2-2P vault RNA 2-2, pseudogene pseudogene pseudogene Approved 2p14 02p14 Vault RNAs 852 2013-10-30 2013-10-30 106479538 ENSG00000251900 NG_044305 HGNC:46889 +HGNC:23027 VTRNA3-1P vault RNA 3-1, pseudogene pseudogene pseudogene Approved Xp11.22 Xp11.22 "vtRNA3P|hvg-4|HVG4" "VAULTRC4|VTRNA3P" "vault RNA component 4|vault RNA 3 (pseudogene)" Vault RNAs 852 2008-03-28 2011-04-11 2011-04-11 2013-05-02 100144435 ENSG00000199422 uc022bxg.2 BD247421 NG_007501 "12758122|19298825|19491402" HGNC:23027 +HGNC:30910 VWA1 von Willebrand factor A domain containing 1 protein-coding gene gene with protein product Approved 1p36.33 01p36.33 "FLJ22215|VWA-1|WARP" Fibronectin type III domain containing 555 2005-07-18 2016-04-25 64856 ENSG00000179403 OTTHUMG00000002975 uc001afs.4 BC059409 NM_022834 "CCDS28|CCDS27" Q6PCB0 "14527666|12062410" MGI:2179729 RGD:1311476 611901 HGNC:30910 "ENST00000476993.2|NM_022834.5" HGNC:30910 +HGNC:24709 VWA2 von Willebrand factor A domain containing 2 protein-coding gene gene with protein product Approved 10q25.3 10q25.3 "FLJ45857|FLJ16213|CCSP-2|AMACO|NET42" 2005-12-19 2016-04-25 340706 ENSG00000165816 OTTHUMG00000019082 uc001lbl.3 AK127756 NM_198496 CCDS7589 Q5GFL6 "15580307|14506275" MGI:2684334 RGD:1562000 618281 HGNC:24709 "ENST00000392982.8|NM_001272046.2" HGNC:24709 +HGNC:27088 VWA3A von Willebrand factor A domain containing 3A protein-coding gene gene with protein product Approved 16p12.2 16p12.2 "FLJ46765|FLJ40941" 2007-08-14 2022-01-10 146177 ENSG00000175267 OTTHUMG00000175461 uc010vbq.2 "AK128606|AK098260" NM_173615 CCDS45441 A6NCI4 32106291 MGI:3041229 RGD:1311670 HGNC:27088 "ENST00000389398.10|NM_173615.5" +HGNC:28385 VWA3B von Willebrand factor A domain containing 3B protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "DKFZp686F2227|MGC26733" 2007-08-14 2019-03-21 200403 ENSG00000168658 OTTHUMG00000153104 uc002syo.4 AL832761 NM_144992 CCDS42718 Q502W6 26157035 MGI:1918103 RGD:1562560 614884 HGNC:28385 "ENST00000477737.6|NM_144992.5" HGNC:28385 +HGNC:6658 VWA5A von Willebrand factor A domain containing 5A protein-coding gene gene with protein product Approved 11q24.2 11q24.2 BCSC-1 LOH11CR2A loss of heterozygosity, 11, chromosomal region 2, gene A 1997-08-28 2008-07-25 2008-07-25 2016-10-05 4013 ENSG00000110002 OTTHUMG00000165971 uc001pzu.4 AF002672 NM_014622 "CCDS8444|CCDS8445" O00534 "9417908|14504409" MGI:1915026 RGD:735145 602929 HGNC:6658 "ENST00000456829.7|NM_001130142.2" +HGNC:26538 VWA5B1 von Willebrand factor A domain containing 5B1 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 FLJ32784 2008-07-25 2018-11-22 127731 ENSG00000158816 OTTHUMG00000002835 uc057cyt.1 "AK125833|AK057346" NM_001039500 Q5TIE3 MGI:1922968 RGD:1308559 HGNC:26538 "ENST00000289815.13|NM_001039500.3" +HGNC:25144 VWA5B2 von Willebrand factor A domain containing 5B2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "DKFZp761K032|LOC90113" MicroRNA protein coding host genes 1691 2008-07-25 2008-07-25 2018-11-22 90113 ENSG00000145198 OTTHUMG00000156820 uc011bra.3 NM_138345 "CCDS54686|CCDS82881" Q8N398 15231747 MGI:2681859 RGD:1564491 HGNC:25144 "ENST00000691901.1|NM_001390846.1" +HGNC:13939 VWA7 von Willebrand factor A domain containing 7 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G7c|NG37" C6orf27 chromosome 6 open reading frame 27 2002-04-05 2011-12-13 2011-12-13 2016-10-05 80737 ENSG00000204396 OTTHUMG00000031132 uc011dog.3 NM_025258 CCDS4721 Q9Y334 MGI:1306798 RGD:1303137 609693 HGNC:13939 "ENST00000375688.5|NM_025258.3" +HGNC:29071 VWA8 von Willebrand factor A domain containing 8 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 P7BP2 Pex7p-binding protein 2 KIAA0564 KIAA0564 MicroRNA protein coding host genes 1691 2007-12-06 2012-08-02 2012-08-02 2020-12-18 23078 ENSG00000102763 OTTHUMG00000016799 uc001uyk.4 AB011136 NM_015058 "CCDS31963|CCDS41881" A3KMH1 "9628581|30204880" MGI:1919008 RGD:1308772 617509 HGNC:29071 "ENST00000379310.8|NM_015058.2" +HGNC:44270 VWA8-AS1 VWA8 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 13q14.11 13q14.11 "VWA8 antisense RNA 1 (non-protein coding)|VWA8 antisense RNA 1" Antisense RNAs 1987 2012-08-02 2012-08-16 2012-10-12 100507240 ENSG00000278338 OTTHUMG00000187366 uc021rix.1 "AK092199|CA310831" NR_039974 VWA8-AS1 HGNC:44270 +HGNC:44271 VWA8P1 von Willebrand factor A domain containing 8 pseudogene 1 pseudogene pseudogene Approved 5q13.1 05q13.1 2012-08-02 2012-08-02 106480787 ENSG00000250289 OTTHUMG00000162334 NG_044066 PGOHUM00000235248 HGNC:44271 +HGNC:30200 VWC2 von Willebrand factor C domain containing 2 protein-coding gene gene with protein product Approved 7p12.2 07p12.2 "PSST739|UNQ739" "brorin|brain-specific chordin-like" Chordin family 1661 2006-08-04 2016-10-05 375567 ENSG00000188730 OTTHUMG00000129265 uc003tot.2 AY358393 NM_198570 CCDS5508 Q2TAL6 17400546 MGI:2442987 RGD:1589624 611108 HGNC:30200 "ENST00000340652.5|NM_198570.5" +HGNC:37203 VWC2L von Willebrand factor C domain containing 2 like protein-coding gene gene with protein product Approved 2q34-q35 02q34-q35 brorin-like von Willebrand factor C domain-containing protein 2-like Chordin family 1661 2009-09-22 2018-08-09 2018-08-09 402117 ENSG00000174453 OTTHUMG00000154811 uc002vet.3 AB374231 NM_001080500 "CCDS46509|CCDS86917" B2RUY7 22209847 MGI:2444069 RGD:1565501 619794 HGNC:37203 "ENST00000312504.10|NM_001080500.4" +HGNC:41508 VWC2L-IT1 VWC2L intronic transcript 1 non-coding RNA RNA, long non-coding Approved 2q35 02q35 VWC2L intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100885780 ENSG00000224257 OTTHUMG00000154819 uc031rrf.2 NR_047698 VWC2L-IT1 HGNC:41508 +HGNC:26487 VWCE von Willebrand factor C and EGF domains protein-coding gene gene with protein product Approved 11q12.2 11q12.2 "URG11|FLJ32009|VWC1" Cysteine rich transmembrane BMP regulators 1660 2006-01-24 2014-11-19 220001 ENSG00000167992 OTTHUMG00000168208 uc001nra.4 AK056571 NM_152718 CCDS8002 Q96DN2 12869306 MGI:1919018 RGD:1309910 611115 HGNC:26487 "ENST00000335613.10|NM_152718.2" +HGNC:21897 VWDE von Willebrand factor D and EGF domains protein-coding gene gene with protein product Approved 7p21.3 07p21.3 FLJ14712 2008-08-11 2018-11-15 221806 ENSG00000146530 OTTHUMG00000152315 uc003ssj.3 NM_001135924 CCDS47544 Q8N2E2 "14702039|16303743" MGI:2685313 RGD:1561223 HGNC:21897 "ENST00000275358.8|NM_001135924.3" +HGNC:12726 VWF von Willebrand factor protein-coding gene gene with protein product Approved 12p13.31 12p13.31 Factor VIII related antigen F8VWF Receptor ligands 542 1986-01-01 2021-11-25 7450 ENSG00000110799 OTTHUMG00000168265 uc001qnn.2 NM_000552 CCDS8539 P04275 2251280 MGI:98941 RGD:621759 "Von Willebrand Factor Database|http://vwf.group.shef.ac.uk/|LRG_587|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_587.xml" 613160 120487 ligandId:6755 HGNC:12726 "ENST00000261405.10|NM_000552.5" HGNC:12726 +HGNC:12727 VWFP1 von Willebrand factor pseudogene 1 pseudogene pseudogene Approved 22q11.1 22q11.1 "F8VWFP|F8VWFL|VWFP" von Willebrand factor pseudogene 1989-04-24 2010-02-25 2010-02-25 2016-10-05 7451 ENSG00000241717 OTTHUMG00000143725 X66120 NG_001212 PGOHUM00000246202 HGNC:12727 +HGNC:28498 VXN vexin protein-coding gene gene with protein product Approved 8q13.1 08q13.1 MGC33510 C8orf46 chromosome 8 open reading frame 46 2005-08-04 2018-04-19 2018-04-19 2020-10-16 254778 ENSG00000169085 OTTHUMG00000156998 uc003xwg.4 BC028400 NM_152765 CCDS6191 Q8TAG6 "29518376|32558188" MGI:1924232 RGD:1561849 HGNC:28498 "ENST00000305454.8|NM_152765.4" +HGNC:17327 WAC WW domain containing adaptor with coiled-coil protein-coding gene gene with protein product Approved 10p12.1 10p12.1 "Wwp4|FLJ31290|PRO1741|BM-016|MGC10753" WW domain-containing adaptor with coiled coil 2004-01-22 2003-03-19 2014-11-19 51322 ENSG00000095787 OTTHUMG00000017872 uc001iuf.4 AK055852 NM_100264 "CCDS7160|CCDS7159|CCDS7161" Q9BTA9 11827461 MGI:2387357 RGD:1562407 615049 471320 HGNC:17327 "ENST00000354911.9|NM_016628.5" HGNC:17327 +HGNC:27347 WAC-AS1 WAC antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 10p12.1 10p12.1 Antisense RNAs 1987 2012-11-06 2012-11-06 220906 ENSG00000254635 OTTHUMG00000166235 uc021pon.2 NR_033805 12477932 WAC-AS1 HGNC:27347 +HGNC:53753 WAKMAR1 wound and keratinocyte migration associated lncRNA 1 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 Long non-coding RNAs with non-systematic symbols 1992 2022-04-07 2022-04-07 2022-04-07 105372576 XR_001754557 31019085 618507 +HGNC:53754 WAKMAR2 wound and keratinocyte migration associated lncRNA 2 non-coding RNA RNA, long non-coding Approved 6q23.3 06q23.3 lnc-TNFAIP3 Long non-coding RNAs with non-systematic symbols 1992 2019-05-31 2019-06-06 100130476 ENSG00000237499 OTTHUMG00000015663 NR_049793 "30594489|30918008" 618508 HGNC:53754 +HGNC:23293 WAPL WAPL cohesin release factor protein-coding gene gene with protein product Approved 10q23.2 10q23.2 FOE friend of EBNA2 "KIAA0261|WAPAL" "KIAA0261|wings apart-like homolog (Drosophila)" Armadillo like helical domain containing 1492 2003-11-21 2015-07-30 2015-07-30 2016-10-05 23063 ENSG00000062650 OTTHUMG00000018651 AB065003 NM_015045 CCDS7375 Q7Z5K2 "9039502|17112726" MGI:2675859 RGD:1590924 610754 471322 HGNC:23293 "ENST00000298767.10|NM_015045.5" HGNC:23293 +HGNC:55805 WAPL-DT WAPL divergent transcript non-coding RNA RNA, long non-coding Approved 10q23.2 10q23.2 Divergent transcripts 1990 2021-07-29 2021-07-29 122152326 ENSG00000227896 +HGNC:12729 WARS1 tryptophanyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 IFP53 tryptophan tRNA ligase 1, cytoplasmic "IFI53|WARS" tryptophanyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 2001-06-22 2019-07-15 2019-07-15 2021-05-26 7453 ENSG00000140105 OTTHUMG00000171572 uc001yhl.2 M61715 NM_004184 "CCDS9961|CCDS9960" P23381 "1537332|1763065" MGI:104630 RGD:1308278 191050 6.1.1.2 HGNC:12729 "ENST00000392882.7|NM_004184.4" HGNC:12729 +HGNC:50482 WARS1P1 tryptophanyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 11q12.1 11q12.1 WARSP1 tryptophanyl-tRNA synthetase pseudogene 1 2014-05-06 2019-07-15 2019-07-15 2019-07-15 341112 ENSG00000225802 OTTHUMG00000167476 NG_050634 PGOHUM00000261835 HGNC:50482 +HGNC:12730 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 1p12 01p12 mtTrpRS tryptophan tRNA ligase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 1999-06-11 2007-02-23 2021-05-26 10352 ENSG00000116874 OTTHUMG00000012335 uc001ehn.4 BC021722 NM_015836 "CCDS30817|CCDS900" Q9UGM6 "10072595|10828066" MGI:1917810 RGD:1593417 604733 471324 6.1.1.2 HGNC:12730 "ENST00000235521.5|NM_015836.4" HGNC:12730 +HGNC:40612 WARS2-AS1 WARS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p12 01p12 Antisense RNAs 1987 2018-09-26 2018-09-26 101929147 ENSG00000231365 OTTHUMG00000012342 NR_125974 HGNC:40612 +HGNC:41393 WARS2-IT1 WARS2 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p12 01p12 WARS2 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 104472716 ENSG00000224238 OTTHUMG00000012341 uc057juy.1 NR_126447 WARS2-IT1 HGNC:41393 +HGNC:45116 WARS2P1 tryptophanyl tRNA synthetase 2 pseudogene 1 pseudogene pseudogene Approved 10q23.1 10q23.1 2013-02-15 2013-02-15 100421633 ENSG00000227209 OTTHUMG00000018622 NG_025451 PGOHUM00000258497 HGNC:45116 +HGNC:12731 WAS WASP actin nucleation promoting factor protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "WASP|WASPA" eczema-thrombocytopenia "IMD2|THC" "thrombocytopenia 1 (X-linked)|Wiskott-Aldrich syndrome (eczema-thrombocytopenia)|Wiskott-Aldrich syndrome" Wiskott-Aldrich Syndrome protein family 14 2001-06-22 2019-02-15 2021-04-13 7454 ENSG00000015285 OTTHUMG00000034483 uc004dkm.5 AF115548 NM_000377 CCDS14303 P42768 "7795648|23527602" MGI:105059 RGD:1563567 "WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS)|http://structure.bmc.lu.se/idbase/WASbase/|LRG_125|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_125.xml" WAS 300392 120490 HGNC:12731 "ENST00000376701.5|NM_000377.3" HGNC:12731 +HGNC:12732 WASF1 WASP family member 1 protein-coding gene gene with protein product Approved 6q21 06q21 "WAVE1|SCAR1|KIAA0269|WAVE" "WAS protein family, member 1|WAS protein family member 1" "Wiskott-Aldrich Syndrome protein family|A-kinase anchoring proteins|SCAR/WAVE complex" "14|396|1793" 1999-09-21 2019-02-15 2019-02-15 8936 ENSG00000112290 OTTHUMG00000015357 uc003ptv.1 D87459 NM_003931 CCDS5080 Q92558 "9843499|9889097" MGI:1890563 RGD:1561954 605035 HGNC:12732 "ENST00000392589.6|NM_003931.3" HGNC:12732 +HGNC:51533 WASF1P1 WASF1 pseudogene 1 pseudogene pseudogene Approved 2q12.3 02q12.3 2015-02-20 2015-02-20 100131624 ENSG00000227597 OTTHUMG00000153228 NG_021575 PGOHUM00000298614 HGNC:51533 +HGNC:12733 WASF2 WASP family member 2 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "WAVE2|SCAR2" "WAS protein family, member 2|WAS protein family member 2" Wiskott-Aldrich Syndrome protein family 14 1999-09-21 2019-02-15 2019-02-15 10163 ENSG00000158195 OTTHUMG00000003393 uc057dvq.1 AB026542 NM_006990 "CCDS55582|CCDS304" Q9Y6W5 10381382 MGI:1098641 RGD:1307299 605875 HGNC:12733 "ENST00000618852.5|NM_006990.5" +HGNC:12734 WASF3 WASP family member 3 protein-coding gene gene with protein product Approved 13q12.13 13q12.13 "WAVE3|SCAR3|KIAA0900" "WAS protein family, member 3|WAS protein family member 3" Wiskott-Aldrich Syndrome protein family 14 1999-09-21 2019-02-15 2019-02-15 10810 ENSG00000132970 OTTHUMG00000016621 uc001uqv.5 AB020707 NM_001291965 "CCDS76626|CCDS9318" Q9UPY6 10381382 MGI:2658986 RGD:1592807 605068 HGNC:12734 "ENST00000335327.6|NM_006646.6" +HGNC:39841 WASF3-AS1 WASF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 13q12.13 13q12.13 WASF3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-03-30 2012-08-15 2014-11-19 100874061 ENSG00000237001 OTTHUMG00000016619 uc058vzt.1 WASF3-AS1 +HGNC:20801 WASF4P WASP family member 4, pseudogene pseudogene pseudogene Approved Xp11.23 Xp11.23 WASF4 "WAS protein family, member 4|WAS protein family, member 4, pseudogene|WAS protein family member 4, pseudogene" Wiskott-Aldrich Syndrome protein family 14 2007-07-31 2011-05-10 2019-02-15 2019-02-15 644739 ENSG00000188459 OTTHUMG00000021456 AJ509090 NG_007616 PGOHUM00000241739 HGNC:20801 +HGNC:21665 WASF5P WASP family member 5, pseudogene pseudogene pseudogene Approved 6p21.33 06p21.33 Em:D84394.5 "WAS protein family, member 5, pseudogene|WAS protein family member 5, pseudogene" Wiskott-Aldrich Syndrome protein family 14 2003-11-27 2019-02-15 2019-02-15 387122 ENSG00000231402 OTTHUMG00000031266 NG_007617 PGOHUM00000243140 HGNC:21665 +HGNC:33145 WASH2P WASP family homolog 2, pseudogene pseudogene pseudogene Approved 2q14.1 02q14.1 MGC52000 FAM39B "family with sequence similarity 39, member B|WAS protein family homolog 2, pseudogene" Wiskott-Aldrich Syndrome protein family 14 2006-10-12 2008-01-16 2019-02-15 2021-10-07 375260 ENSG00000146556 OTTHUMG00000047822 NR_024077 Q6VEQ5 18159949 HGNC:33145 +HGNC:24362 WASH3P WASP family homolog 3, pseudogene pseudogene pseudogene Approved 15q26.3 15q26.3 FLJ25222 FAM39DP "family with sequence similarity 39, member D pseudogene|WAS protein family homolog 3, pseudogene" Wiskott-Aldrich Syndrome protein family 14 2006-10-19 2008-01-16 2019-02-15 2021-10-07 374666 ENSG00000185596 OTTHUMG00000172275 NR_003659 C4AMC7 "11701968|18159949" MGI:1916017 HGNC:24362 +HGNC:14126 WASH4P WASP family homolog 4, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 FLJ31670 FAM39CP "family with sequence similarity 39, member C pseudogene|WAS protein family homolog 4, pseudogene" Wiskott-Aldrich Syndrome protein family 14 2006-10-19 2008-01-16 2019-02-15 2019-02-15 374677 ENSG00000234769 OTTHUMG00000059914 NG_003159 A8MWX3 "9054936|11701968|18159949" HGNC:14126 +HGNC:33884 WASH5P WASP family homolog 5, pseudogene pseudogene pseudogene Approved 19p13.3 19p13.3 WAS protein family homolog 5, pseudogene Wiskott-Aldrich Syndrome protein family 14 2007-11-20 2008-01-16 2019-02-15 2019-02-15 375690 ENSG00000282458 OTTHUMG00000180466 NR_033266 18159949 HGNC:33884 +HGNC:31685 WASH6P WASP family homolog 6, pseudogene pseudogene pseudogene Approved Xq28 and Yq12 Xq28 and Yq12 "FAM39A|CXYorf1" "family with sequence similarity 39, member A|chromosomes X and Y open reading frame 1|WAS protein family homolog 6, pseudogene" "Wiskott-Aldrich Syndrome protein family|Pseudoautosomal region 2" "14|716" 2005-12-22 2008-01-16 2019-02-15 2019-02-15 653440 ENSG00000182484 OTTHUMG00000022677 AI042587 NG_008380 Q9NQA3 "10655549|12566406|18159949" MGI:1916017 HGNC:31685 +HGNC:38034 WASH7P WASP family homolog 7, pseudogene pseudogene pseudogene Approved 1p36.33 01p36.33 FAM39F family with sequence similarity 39, member F WAS protein family homolog 7, pseudogene Wiskott-Aldrich Syndrome protein family 14 2010-03-23 2019-02-15 2019-02-15 653635 ENSG00000227232 OTTHUMG00000000958 NR_024540 18159949 PGOHUM00000306540 HGNC:38034 +HGNC:53913 WASH8P WAS protein family homolog 8, pseudogene pseudogene pseudogene Approved 12p13.33 12p13.33 2018-06-06 2018-06-06 100288778 ENSG00000226210 OTTHUMG00000167919 NR_130745 PGOHUM00000306524 HGNC:53913 +HGNC:53981 WASH9P WAS protein family homolog 9, pseudogene pseudogene pseudogene Approved 1p36.33 01p36.33 2018-08-03 2018-08-03 102723897 ENSG00000279457 OTTHUMG00000191963 HGNC:53981 +HGNC:24361 WASHC1 WASH complex subunit 1 protein-coding gene gene with protein product Approved 9p24.3 09p24.3 FLJ00038 "FAM39E|WASH1" "family with sequence similarity 39, member E|WAS protein family homolog 1" "Wiskott-Aldrich Syndrome protein family|WASH complex|SSU processome" "14|1331|1484" 2007-08-02 2016-10-14 2016-10-14 2019-12-06 100287171 ENSG00000181404 OTTHUMG00000019420 uc010mgm.2 AY341937 NM_182905 CCDS78375 A8K0Z3 "15233989|18159949" MGI:1916017 RGD:1310196 613632 HGNC:24361 +HGNC:23416 WASHC2A WASH complex subunit 2A protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "bA56A21.1|bA98I6.1|FLJ10824" "FAM21B|FAM21A" "family with sequence similarity 21, member B|family with sequence similarity 21, member A|family with sequence similarity 21 member A" WASH complex 1331 2004-05-27 2016-10-14 2016-10-14 2016-10-14 387680 ENSG00000099290 OTTHUMG00000018225 uc001jjb.4 BC082258 NM_001005751 "CCDS81463|CCDS41527|CCDS76303" Q641Q2 MGI:106463 HGNC:23416 "ENST00000282633.10|NM_001005751.3" +HGNC:23414 WASHC2C WASH complex subunit 2C protein-coding gene gene with protein product Approved 10q11.22 10q11.22 "Em:AC012044.3|KIAA0592" FAM21C family with sequence similarity 21 member C WASH complex 1331 2004-05-27 2016-10-14 2016-10-14 2016-10-14 253725 ENSG00000172661 OTTHUMG00000018089 uc001jcu.4 NM_001169106 "CCDS44374|CCDS53529|CCDS81453|CCDS53528" Q9Y4E1 "20357771|20498093" MGI:106463 RGD:735230 613631 HGNC:23414 "ENST00000623400.4|NM_001330074.2" +HGNC:24256 WASHC3 WASH complex subunit 3 protein-coding gene gene with protein product Approved 12q23.2 12q23.2 CGI-116 CCDC53 coiled-coil domain containing 53 WASH complex 1331 2006-01-04 2016-10-14 2016-10-14 2016-10-14 51019 ENSG00000120860 OTTHUMG00000168187 uc010svw.3 AF151874 NM_016053 "CCDS73512|CCDS44959" Q9Y3C0 "10810093|20498093" MGI:1914532 RGD:1563761 HGNC:24256 "ENST00000240079.11|NM_016053.4" +HGNC:54983 WASHC3P1 WASHC3 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-14 2020-05-14 100131069 ENSG00000213747 NG_022670 +HGNC:29174 WASHC4 WASH complex subunit 4 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 SWIP strumpellin and WASH-interacting protein KIAA1033 KIAA1033 WASH complex 1331 2005-03-01 2016-10-14 2016-10-14 2016-11-15 23325 ENSG00000136051 OTTHUMG00000169838 uc001tld.4 AB028956 NM_015275 "CCDS73514|CCDS41826" Q2M389 "20376207|20498093|21498477" MGI:2441787 RGD:1309995 615748 270389 HGNC:29174 "ENST00000332180.10|NM_015275.3" HGNC:29174 +HGNC:28984 WASHC5 WASH complex subunit 5 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 strumpellin "SPG8|KIAA0196" "spastic paraplegia 8 (autosomal dominant)|KIAA0196" WASH complex 1331 2005-07-19 2016-10-14 2016-10-14 2022-01-17 9897 ENSG00000164961 OTTHUMG00000164991 uc003yrt.4 NM_014846 "CCDS6355|CCDS83325" Q12768 "9973294|17160902|23085491" MGI:2146110 RGD:1564420 610657 122831 HGNC:28984 "ENST00000318410.12|NM_014846.4" HGNC:28984 +HGNC:43440 WASHC5-AS1 WASHC5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.13 08q24.13 KIAA0196-AS1 "KIAA0196 antisense RNA 1 (non-protein coding)|KIAA0196 antisense RNA 1" Antisense RNAs 1987 2011-10-28 2016-11-21 2016-11-21 2016-11-21 106479020 ENSG00000253167 OTTHUMG00000164992 uc064qbo.1 NR_170219 +HGNC:38513 WASIR1 WASH and IL9R antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq28 and Yq12 Xq28 and Yq12 NCRNA00286B "non-protein coding RNA 286B|WASH and IL9R antisense RNA 1 (non-protein coding)" "Pseudoautosomal region 2|Long non-coding RNAs with non-systematic symbols" "716|1992" 2010-08-24 2011-04-28 2012-08-15 2020-04-20 100128260 ENSG00000185203 OTTHUMG00000022676 uc065cww.1 AJ271736 NR_138048 WASIR1 HGNC:38513 +HGNC:38609 WASIR2 WASH and IL9R antisense RNA 2 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 NCRNA00286A "non-protein coding RNA 286A|WASH and IL9R antisense RNA 2 (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 2010-08-24 2011-04-28 2012-08-15 2012-10-12 100132169 ENSG00000231439 OTTHUMG00000060721 uc002cfh.4 "BC032901|CR605219" XR_078518 11157797 WASIR2 HGNC:38609 +HGNC:12735 WASL WASP like actin nucleation promoting factor protein-coding gene gene with protein product Approved 7q31.32 07q31.32 "N-WASP|NWASP|WASPB" "Wiskott-Aldrich syndrome-like|Wiskott-Aldrich syndrome like" Wiskott-Aldrich Syndrome protein family 14 1998-10-14 2019-02-15 2019-02-15 8976 ENSG00000106299 OTTHUMG00000157346 uc003vkz.5 D88460 NM_003941 CCDS34743 O00401 "9422512|9322739|23527602" MGI:1920428 RGD:735144 605056 HGNC:12735 "ENST00000223023.5|NM_003941.4" +HGNC:54820 WASL-DT WASL divergent transcript non-coding RNA RNA, long non-coding Approved 7q31.32 07q31.32 Divergent transcripts 1990 2020-01-17 2020-07-16 116435299 ENSG00000272686 NR_170281 32079618 +HGNC:12737 WBP1 WW domain binding protein 1 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 WBP-1 WBP1/VOPP1 family 1564 1999-11-26 2016-10-05 23559 ENSG00000239779 OTTHUMG00000129958 uc002slj.3 U79457 NM_012477 CCDS1943 Q96G27 7644498 MGI:104710 RGD:1304961 606961 HGNC:12737 "ENST00000233615.7|NM_012477.4" +HGNC:23510 WBP1L WW domain binding protein 1 like protein-coding gene gene with protein product Approved 10q24.32 10q24.32 "FLJ20154|OPAL1" outcome predictor in acute leukemia 1 C10orf26 chromosome 10 open reading frame 26 WBP1/VOPP1 family 1564 2003-11-21 2012-05-02 2017-02-20 2017-02-20 54838 ENSG00000166272 OTTHUMG00000018968 uc001kwe.5 AK056285 NM_017787 "CCDS7540|CCDS44473" Q9NX94 MGI:107577 RGD:1305793 611129 HGNC:23510 "ENST00000448841.7|NM_001083913.2" +HGNC:43948 WBP1LP1 WBP1L pseudogene 1 pseudogene pseudogene Approved 7q34 07q34 WW domain binding protein 1-like pseudogene 1 2012-05-16 2019-02-18 2019-02-18 106479029 ENSG00000243661 OTTHUMG00000158902 NG_044331 PGOHUM00000302458 HGNC:43948 +HGNC:43949 WBP1LP2 WBP1L pseudogene 2 pseudogene pseudogene Approved 7q22.3 07q22.3 WW domain binding protein 1-like pseudogene 2 2012-05-16 2019-02-18 2019-02-18 100506330 ENSG00000250474 OTTHUMG00000154776 NG_029261 PGOHUM00000302890 HGNC:43949 +HGNC:43958 WBP1LP3 WBP1L pseudogene 3 pseudogene pseudogene Approved 8p23.3 08p23.3 WW domain binding protein 1-like pseudogene 3 2012-05-16 2019-02-18 2019-02-18 106479031 ENSG00000253612 OTTHUMG00000163907 NG_044349 PGOHUM00000303398 HGNC:43958 +HGNC:43951 WBP1LP4 WBP1L pseudogene 4 pseudogene pseudogene Approved 5q35.3 05q35.3 WW domain binding protein 1-like pseudogene 4 2012-05-16 2019-02-18 2019-02-18 106480779 ENSG00000251035 OTTHUMG00000162075 NG_043998 PGOHUM00000300855 HGNC:43951 +HGNC:43957 WBP1LP5 WBP1L pseudogene 5 pseudogene pseudogene Approved 15q26.3 15q26.3 WW domain binding protein 1-like pseudogene 5 2012-05-16 2019-02-18 2019-02-18 106480780 ENSG00000259454 OTTHUMG00000172270 NG_044007 PGOHUM00000293095 HGNC:43957 +HGNC:43956 WBP1LP6 WBP1L pseudogene 6 pseudogene pseudogene Approved 1p36.33 01p36.33 WW domain binding protein 1-like pseudogene 6 2012-05-16 2019-02-18 2019-02-18 106481797 ENSG00000268663 OTTHUMG00000002340 NG_043960 PGOHUM00000296181 HGNC:43956 +HGNC:43955 WBP1LP7 WBP1L pseudogene 7 pseudogene pseudogene Approved 1p36.33 01p36.33 WW domain binding protein 1-like pseudogene 7 2012-05-16 2019-02-18 2019-02-18 106479030 ENSG00000269732 OTTHUMG00000002859 NG_044339 PGOHUM00000296173 HGNC:43955 +HGNC:51468 WBP1LP8 WBP1L pseudogene 8 pseudogene pseudogene Approved 6q27 06q27 WW domain binding protein 1-like pseudogene 8 2014-12-01 2019-02-18 2019-02-18 106480325 ENSG00000273640 OTTHUMG00000187659 NG_044462 PGOHUM00000301636 HGNC:51468 +HGNC:51469 WBP1LP9 WBP1L pseudogene 9 pseudogene pseudogene Approved 9q34.3 09q34.3 WW domain binding protein 1-like pseudogene 9 2014-12-01 2019-02-18 2019-02-18 107403079 NG_046797 PGOHUM00000304070 HGNC:51469 +HGNC:51470 WBP1LP10 WBP1L pseudogene 10 pseudogene pseudogene Approved 11p15.5 11p15.5 WW domain binding protein 1-like pseudogene 10 2014-12-01 2019-02-18 2019-02-18 106480326 ENSG00000253826 OTTHUMG00000165075 NG_044472 PGOHUM00000290769 HGNC:51470 +HGNC:51471 WBP1LP11 WBP1L pseudogene 11 pseudogene pseudogene Approved 19p13.3 19p13.3 WW domain binding protein 1-like pseudogene 11 2014-12-01 2019-02-18 2019-02-18 106481969 ENSG00000267792 OTTHUMG00000180455 NG_043323 PGOHUM00000295159 HGNC:51471 +HGNC:51472 WBP1LP12 WBP1L pseudogene 12 pseudogene pseudogene Approved 6p25.3 06p25.3 WW domain binding protein 1-like pseudogene 12 2014-12-01 2019-02-18 2019-02-18 106480327 ENSG00000271530 OTTHUMG00000184610 NG_045865 PGOHUM00000301638 HGNC:51472 +HGNC:54567 WBP1P1 WBP1 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-10-16 2019-10-16 100420109 ENSG00000231351 NG_023579 +HGNC:54568 WBP1P2 WBP1 pseudogene 2 pseudogene pseudogene Approved 2p11.2 02p11.2 2019-10-16 2019-10-16 729859 ENSG00000233205 NG_021567 +HGNC:12738 WBP2 WW domain binding protein 2 protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "WBP-2|GRAMD6" GRAM domain containing 1146 1999-11-26 2016-04-05 23558 ENSG00000132471 OTTHUMG00000179896 uc060kdn.1 U79458 NM_012478 "CCDS82206|CCDS11731" Q969T9 "7644498|26881968|23233354" MGI:104709 RGD:620032 606962 HGNC:12738 "ENST00000254806.8|NM_012478.4" HGNC:12738 +HGNC:28389 WBP2NL WBP2 N-terminal like protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "FLJ26145|MGC26816|PAWP|GRAMD7" postacrosomal sheath WW domain-binding protein GRAM domain containing 1146 2006-06-22 2020-11-17 164684 ENSG00000183066 OTTHUMG00000151270 uc003bbt.4 BC022546 NM_152613 CCDS14029 Q6ICG8 17289678 MGI:1921966 RGD:1586458 610981 HGNC:28389 "ENST00000328823.13|NM_152613.3" +HGNC:31695 WBP2P1 WW domain binding protein 2 pseudogene 1 pseudogene pseudogene Approved 18q11.2 18q11.2 2008-10-01 2017-10-25 147468 ENSG00000229248 OTTHUMG00000179508 NG_006941 PGOHUM00000294631 HGNC:31695 +HGNC:12739 WBP4 WW domain binding protein 4 protein-coding gene gene with protein product Approved 13q14.11 13q14.11 "FBP21|MGC117310" formin binding protein 21 Spliceosomal B complex 1507 1999-09-16 2012-10-17 2016-10-05 11193 ENSG00000120688 OTTHUMG00000016784 uc001uxt.4 AF071185 NM_007187 CCDS9375 O75554 9724750 MGI:109568 RGD:620033 604981 HGNC:12739 "ENST00000379487.5|NM_007187.5" +HGNC:16461 WBP11 WW domain binding protein 11 protein-coding gene gene with protein product Approved 12p12.3 12p12.3 "NPWBP|SIPP1|PPP1R165|BUG13" "splicing factor, PQBP1 and PP1 interacting|protein phosphatase 1, regulatory subunit 165" "Protein phosphatase 1 regulatory subunits|Cilia and flagella associated|Spliceosomal B complex" "694|1491|1507" 2001-08-28 2022-03-14 51729 ENSG00000084463 OTTHUMG00000168737 uc001rci.4 AB029309 NM_016312 CCDS8666 Q9Y2W2 10593949 MGI:1891823 RGD:1307911 618083 HGNC:16461 "ENST00000261167.7|NM_016312.3" HGNC:16461 +HGNC:26250 WBP11P1 WBP11 pseudogene 1 pseudogene pseudogene Approved 18q12.1 18q12.1 HsT3017 WW domain binding protein 11 pseudogene 1 2007-05-15 2020-01-08 2020-01-08 441818 ENSG00000260389 OTTHUMG00000177061 BC059403 NR_003558 PGOHUM00000294764 HGNC:26250 +HGNC:54786 WBP11P2 WBP11 pseudogene 2 pseudogene pseudogene Approved 2q14.3 02q14.3 2020-01-08 2020-01-08 100130102 ENSG00000226789 NG_021582 +HGNC:54789 WBP11P3 WBP11 pseudogene 3 pseudogene pseudogene Approved Xq21.1 Xq21.1 2020-01-08 2020-01-08 727874 ENSG00000228051 NG_022676 +HGNC:12746 WBSCR2 Williams-Beuren syndrome chromosome region 2 other region Approved 7q11.23 07q11.23 WSCR2 1997-09-12 2008-06-11 7459 8812460 +HGNC:26157 WDCP WD repeat and coiled coil containing protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ21945|MMAP" C2orf44 chromosome 2 open reading frame 44 MRN complex 1344 2006-07-26 2016-04-22 2016-04-22 2018-10-25 80304 ENSG00000163026 OTTHUMG00000125498 uc002rep.3 AK025598 NM_025203 "CCDS1705|CCDS46229" Q9H6R7 "22327622|25469238|30297404" MGI:3040699 RGD:1563701 WDCP 616234 HGNC:26157 "ENST00000295148.9|NM_025203.3" +HGNC:20451 WDFY1 WD repeat and FYVE domain containing 1 protein-coding gene gene with protein product Approved 2q36.1 02q36.1 "KIAA1435|FENS-1|WDF1|ZFYVE17" WD40 and FYVE domain containing 1 "Zinc fingers FYVE-type|WD repeat domain containing" "81|362" 2003-03-03 2003-03-13 2016-10-05 57590 ENSG00000085449 OTTHUMG00000153370 uc002vnq.4 AB037856 NM_020830 CCDS33387 Q8IWB7 11739631 MGI:1916618 RGD:1305996 618080 HGNC:20451 "ENST00000233055.9|NM_020830.5" +HGNC:20482 WDFY2 WD repeat and FYVE domain containing 2 protein-coding gene gene with protein product Approved 13q14.3 13q14.3 ZFYVE22 WD40 and FYVE domain containing 2 "Zinc fingers FYVE-type|WD repeat domain containing" "81|362" 2003-03-03 2003-03-13 2016-10-05 115825 ENSG00000139668 OTTHUMG00000017407 uc001vfp.4 AF411978 NM_052950 CCDS9429 Q96P53 MGI:2442811 RGD:1307337 610418 HGNC:20482 "ENST00000298125.7|NM_052950.4" +HGNC:20751 WDFY3 WD repeat and FYVE domain containing 3 protein-coding gene gene with protein product Approved 4q21.23 04q21.23 "KIAA0993|ALFY|ZFYVE25" "Zinc fingers FYVE-type|WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "81|362|1230|1492" 2003-03-28 2016-10-05 23001 ENSG00000163625 OTTHUMG00000130424 uc003hpd.4 AB023210 NM_014991 CCDS3609 Q8IZQ1 10231032 MGI:1096875 RGD:1307097 617485 HGNC:20751 "ENST00000295888.9|NM_014991.6" HGNC:20751 +HGNC:40935 WDFY3-AS1 WDFY3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q21.23 04q21.23 WDFY3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-11 2012-08-15 2014-11-19 100874023 ENSG00000251260 OTTHUMG00000160941 uc062xxl.1 NR_046707 WDFY3-AS1 +HGNC:21603 WDFY3-AS2 WDFY3 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 4q21.23 04q21.23 FBI4 "C4orf12|NCRNA00247" "chromosome 4 open reading frame 12|non-protein coding RNA 247|WDFY3 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2005-06-30 2013-12-05 2013-12-05 2019-08-08 404201 ENSG00000180769 OTTHUMG00000141281 uc003hpg.3 AY250185 NR_015359 "15580561|31347170" WDFY3-AS2 HGNC:21603 +HGNC:29323 WDFY4 WDFY family member 4 protein-coding gene gene with protein product Approved 10q11.23 10q11.23 "KIAA1607|Em:AC060234.3|FLJ45748" C10orf64 chromosome 10 open reading frame 64 "WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing" "362|1230|1492" 2004-02-05 2018-11-22 57705 ENSG00000128815 OTTHUMG00000018180 uc057tdq.1 AK074085 NM_020945 CCDS44385 Q6ZS81 10997877 MGI:3584510 RGD:1564142 613316 HGNC:29323 "ENST00000325239.12|NM_001394531.1" +HGNC:23170 WDHD1 WD repeat and HMG-box DNA binding protein 1 protein-coding gene gene with protein product Approved 14q22.2-q22.3 14q22.2-q22.3 "AND-1|CTF4|CHTF4" CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae) WD repeat domain containing 362 2003-11-13 2018-02-13 11169 ENSG00000198554 OTTHUMG00000140304 uc001xbm.3 AJ006266 NM_007086 "CCDS9721|CCDS41955" O75717 "9175701|20028748" MGI:2443514 RGD:1310200 608126 HGNC:23170 "ENST00000360586.8|NM_007086.4" +HGNC:28027 WDPCP WD repeat containing planar cell polarity effector protein-coding gene gene with protein product Approved 2p15 02p15 "hFrtz|fritz|BBS15|CPLANE5" ciliogenesis and planar polarity effector complex subunit 5 C2orf86 chromosome 2 open reading frame 86 Ciliogenesis and planar polarity effector complex subunits 1610 2009-02-25 2011-02-01 2011-02-01 2021-12-03 51057 ENSG00000143951 OTTHUMG00000152566 uc002sch.4 NM_015910 "CCDS42688|CCDS46301" O95876 "15654087|20671153" MGI:2144467 RGD:1309501 613580 247155 HGNC:28027 "ENST00000272321.12|NM_015910.7" HGNC:28027 +HGNC:12754 WDR1 WD repeat domain 1 protein-coding gene gene with protein product Approved 4p16.1 04p16.1 AIP1 actin-interacting protein 1 "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 1999-04-23 2021-11-18 9948 ENSG00000071127 OTTHUMG00000160253 uc032tce.2 AF020260 NM_005112 "CCDS54740|CCDS54739" O75083 10036186 MGI:1337100 RGD:1305789 604734 HGNC:12754 "ENST00000499869.7|NM_017491.5" +HGNC:12755 WDR3 WD repeat domain 3 protein-coding gene gene with protein product Approved 1p12 01p12 "FLJ12796|UTP12|DIP2" "WD repeat domain containing|UTPb subcomplex" "362|1225" 1998-11-30 2015-08-26 10885 ENSG00000065183 OTTHUMG00000012197 uc010oxe.2 AF083217 NM_006784 CCDS898 Q9UNX4 10395803 MGI:2443143 RGD:1307480 604737 HGNC:12755 "ENST00000349139.6|NM_006784.3" +HGNC:12756 WDR4 WD repeat domain 4 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 "TRM82|TRMT82|Wuho" TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae) WD repeat domain containing 362 1999-07-19 2021-03-17 10785 ENSG00000160193 OTTHUMG00000086826 uc002zci.5 AJ243912 NM_001260474 CCDS13691 P57081 12403464 MGI:1889002 RGD:1585179 605924 471328 HGNC:12756 "ENST00000398208.3|NM_018669.6" HGNC:12756 +HGNC:55134 WDR4P1 WDR4 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 2020-07-08 2020-07-08 100130607 ENSG00000271158 NG_022639 +HGNC:55135 WDR4P2 WDR4 pseudogene 2 pseudogene pseudogene Approved 2p13.3 02p13.3 2020-07-08 2020-07-08 391383 ENSG00000229462 NG_021505 +HGNC:12757 WDR5 WD repeat domain 5 protein-coding gene gene with protein product Approved 9q34.2 09q34.2 "SWD3|CFAP89" "SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)|cilia and flagella associated protein 89" "WD repeat domain containing|ATAC complex|NSL histone acetyltransferase complex|Cilia and flagella associated|WRAD complex" "362|1058|1482|1491|1558" 1999-08-23 2016-10-05 11091 ENSG00000196363 OTTHUMG00000131707 uc004cey.4 AJ011376 NM_052821 CCDS6981 P61964 11551928 MGI:2155884 RGD:1305159 609012 471332 objectId:2831 HGNC:12757 "ENST00000358625.4|NM_017588.3" +HGNC:55141 WDR5-DT WDR5 divergent transcript non-coding RNA RNA, long non-coding Approved 9q34.2 09q34.2 Divergent transcripts 1990 2020-07-10 2020-07-10 118568806 ENSG00000273249 +HGNC:17826 WDR5B WD repeat domain 5B protein-coding gene gene with protein product Approved 3q21.1 03q21.1 FLJ11287 WD repeat domain containing 362 2002-01-29 2013-01-09 54554 ENSG00000196981 OTTHUMG00000159489 uc003efa.2 AK002149 NM_019069 CCDS3012 Q86VZ2 10369878 MGI:1916794 RGD:1308567 HGNC:17826 "ENST00000330689.6|NM_019069.4" +HGNC:55192 WDR5B-DT WDR5B divergent transcript non-coding RNA RNA, long non-coding Approved 3q21.1 03q21.1 Divergent transcripts 1990 2020-08-13 2020-08-13 102723582 ENSG00000272758 NR_125405 +HGNC:12758 WDR6 WD repeat domain 6 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Trm734 Trm734 homolog (S. cerevisiae) WD repeat domain containing 362 1999-09-07 2022-03-17 11180 ENSG00000178252 OTTHUMG00000133546 uc062jnu.1 AF099100 NM_001320546 CCDS82772 Q9NNW5 "25404562|32558197" MGI:1930140 RGD:1307649 606031 HGNC:12758 "ENST00000608424.6|NM_018031.6" +HGNC:13490 WDR7 WD repeat domain 7 protein-coding gene gene with protein product Approved 18q21.31 18q21.31 "KIAA0541|TRAG" "WD repeat domain containing|Armadillo like helical domain containing" "362|1492" 2000-09-19 2015-08-26 23335 ENSG00000091157 OTTHUMG00000132721 uc002lgk.2 AB011113 NM_001382485 "CCDS11962|CCDS11963" Q9Y4E6 10828621 MGI:1860197 RGD:619836 613473 HGNC:13490 "ENST00000254442.8|NM_015285.3" +HGNC:45131 WDR7-OT1 WDR7 overlapping transcript 1 non-coding RNA RNA, long non-coding Approved 18q21.31 18q21.31 "WDR7-UA1|WDR7-UT1" "WDR7 3'UTR-associated RNA 1|WDR7 overlapping transcript 1 (non-protein coding)" Overlapping transcripts 1988 2013-02-21 2013-10-31 2014-06-02 2014-06-02 107985140 ENSG00000267225 OTTHUMG00000180085 DA634713 XR_001753461 WDR7-OT1 HGNC:45131 +HGNC:13831 WDR11 WD repeat domain 11 protein-coding gene gene with protein product Approved 10q26.12 10q26.12 "KIAA1351|FLJ10506|WDR15|HH14|DR11|SRI1" sensitization to ricin complex subunit 1 BRWD2 bromodomain and WD repeat domain containing 2 WD repeat domain containing 362 2000-11-20 2010-01-06 2010-01-06 2016-10-05 55717 ENSG00000120008 OTTHUMG00000019171 uc021pzt.2 AF320223 NM_018117 CCDS7619 Q9BZH6 "10718198|11536051|23394947" MGI:1920230 RGD:1587347 606417 244406 HGNC:13831 "ENST00000263461.11|NM_018117.12" HGNC:13831 +HGNC:27437 WDR11-DT WDR11 divergent transcript non-coding RNA RNA, long non-coding Approved 10q26.12 10q26.12 WDR11-AS1 "WDR11 antisense RNA 1 (non-protein coding)|WDR11 antisense RNA 1" Divergent transcripts 1990 2012-06-30 2021-07-30 2021-07-30 2021-07-30 283089 ENSG00000227165 OTTHUMG00000019169 uc057wjr.1 AK094649 NR_033850 WDR11-AS1 HGNC:27437 +HGNC:14098 WDR12 WD repeat domain 12 protein-coding gene gene with protein product Approved 2q33.2 02q33.2 "YTM1|FLJ10881" "WD repeat domain containing|PeBoW complex" "362|1732" 2001-07-09 2019-02-18 55759 ENSG00000138442 OTTHUMG00000132855 uc002uzl.4 AF242546 NM_018256 CCDS2356 Q9GZL7 "16043514|17353269" MGI:1927241 RGD:735072 616620 HGNC:14098 "ENST00000261015.5|NM_018256.4" +HGNC:14352 WDR13 WD repeat domain 13 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 WD repeat domain containing 362 2001-01-11 2020-04-02 64743 ENSG00000101940 OTTHUMG00000024119 uc064yzh.1 AF329819 NM_001166426 CCDS14302 Q9H1Z4 MGI:1914661 RGD:1560982 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/WDR13 300512 471326 HGNC:14352 "ENST00000376729.10|NM_001347217.2" HGNC:14352 +HGNC:16661 WDR17 WD repeat domain 17 protein-coding gene gene with protein product Approved 4q34.2 04q34.2 WD repeat domain containing 362 2001-10-26 2016-10-05 116966 ENSG00000150627 OTTHUMG00000160791 uc003iuj.4 AF492460 NM_001350727 "CCDS3825|CCDS43284" Q8IZU2 12401215 MGI:1924662 RGD:1590843 609005 HGNC:16661 "ENST00000508596.6|NM_181265.4" +HGNC:17956 WDR18 WD repeat domain 18 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 Ipi3 Involved in Processing ITS2 3 homolog (S. cerevisiae) "WD repeat domain containing|Large ribosomal subunit biogenesis complex" "362|1301" 2002-01-10 2015-08-26 57418 ENSG00000065268 OTTHUMG00000181903 uc002lqm.2 NM_001372085 CCDS12051 Q9BV38 22190735 MGI:2158400 RGD:1310646 HGNC:17956 "ENST00000585809.6|NM_024100.4" +HGNC:18340 WDR19 WD repeat domain 19 protein-coding gene gene with protein product Approved 4p14 04p14 "Pwdmp|KIAA1638|FLJ23127|ORF26|DYF-2|Oseg6|IFT144|NPHP13|FAP66" intraflagellar transport 144 homolog (Chlamydomonas) "WD repeat domain containing|IFT-A complex" "362|1978" 2002-04-26 2020-01-28 57728 ENSG00000157796 OTTHUMG00000160466 uc003gtv.3 "AB046858|AY029257" NM_001317924 CCDS47042 Q8NEZ3 "12906858|22019273" MGI:2443231 RGD:1306997 608151 285468 HGNC:18340 "ENST00000399820.8|NM_025132.4" HGNC:18340 +HGNC:19667 WDR20 WD repeat domain 20 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 "DMR|MGC33177|FLJ33659|Bun107" WD repeat domain containing 362 2002-11-13 2021-03-15 91833 ENSG00000140153 OTTHUMG00000171753 uc001ykz.4 BC028387 NM_181291 "CCDS55943|CCDS81853|CCDS9970|CCDS9969|CCDS9968|CCDS55945|CCDS55944|CCDS55942" Q8TBZ3 24356955 MGI:1916891 RGD:1306499 617741 HGNC:19667 "ENST00000342702.8|NM_144574.4" +HGNC:20852 WDR24 WD repeat domain 24 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "DKFZp434F054|JFP7" C16orf21 chromosome 16 open reading frame 21 "WD repeat domain containing|GATOR2 subcomplex" "362|1395" 2003-05-08 2014-11-19 84219 ENSG00000127580 OTTHUMG00000090421 uc002ciz.2 AL136863 NM_032259 CCDS10420 Q96S15 11230166 MGI:2446285 RGD:1304803 HGNC:20852 "ENST00000293883.9|NM_032259.4" +HGNC:21064 WDR25 WD repeat domain 25 protein-coding gene gene with protein product Approved 14q32.2 14q32.2 MGC4645 C14orf67 chromosome 14 open reading frame 67 WD repeat domain containing 362 2005-10-04 2020-04-01 79446 ENSG00000176473 OTTHUMG00000171585 uc010avx.4 BC007953 NM_024515 CCDS32157 Q64LD2 15587985 MGI:3045255 RGD:1562505 618059 HGNC:21064 "ENST00000402312.8|NM_001161476.3" +HGNC:21208 WDR26 WD repeat domain 26 protein-coding gene gene with protein product Approved 1q42.11-q42.12 01q42.11-q42.12 "FLJ21016|GID7" GID complex subunit 7 homolog (S. cerevisiae) "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2003-07-14 2018-02-13 80232 ENSG00000162923 OTTHUMG00000037636 uc001hop.4 AK024669 NM_025160 CCDS31037 Q9H7D7 MGI:1923825 RGD:1565589 617424 HGNC:21208 "ENST00000414423.9|NM_001379403.1" HGNC:21208 +HGNC:21248 WDR27 WD repeat domain 27 protein-coding gene gene with protein product Approved 6q27 06q27 MGC43690 WD repeat domain containing 362 2004-01-15 2003-06-18 2021-04-13 253769 ENSG00000184465 OTTHUMG00000016061 uc003qwx.4 AK131435 NM_182552 "CCDS56459|CCDS47520" A2RRH5 MGI:1918932 RGD:1309633 LRG_1071|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1071.xml HGNC:21248 "ENST00000448612.6|NM_182552.5" +HGNC:21421 WDR31 WD repeat domain 31 protein-coding gene gene with protein product Approved 9q32 09q32 FLJ35921 similar to spermatid WD-repeat protein WD repeat domain containing 362 2003-11-25 2016-10-05 114987 ENSG00000148225 OTTHUMG00000020525 uc064vdu.1 BC012352 NM_145241 "CCDS35110|CCDS6792" Q8NA23 MGI:1918604 RGD:1309367 HGNC:21421 "ENST00000374193.9|NM_001012361.4" +HGNC:25651 WDR33 WD repeat domain 33 protein-coding gene gene with protein product Approved 2q14.3 02q14.3 "FLJ11294|WDC146|NET14" "WD repeat domain containing|Cleavage and polyadenylation specific factor subunits" "362|1450" 2004-02-16 2017-10-17 55339 ENSG00000136709 OTTHUMG00000131534 uc002tpg.3 NM_018383 "CCDS2150|CCDS46407|CCDS42746" Q9C0J8 "11162572|19217410|25301780|25301781" MGI:1921570 RGD:1309230 618082 HGNC:25651 "ENST00000322313.9|NM_018383.5" +HGNC:29250 WDR35 WD repeat domain 35 protein-coding gene gene with protein product Approved 2p24.1 02p24.1 "MGC33196|KIAA1336|IFT121|IFTA1|FAP118" "WD repeat domain containing|IFT-A complex" "362|1978" 2004-03-02 2020-01-28 57539 ENSG00000118965 OTTHUMG00000090737 uc002rdj.5 AB037757 NM_020779 "CCDS33152|CCDS1695" Q9P2L0 10718198 MGI:1921932 RGD:1564116 613602 239955 HGNC:29250 "ENST00000281405.9|NM_020779.4" HGNC:29250 +HGNC:55818 WDR35-DT WDR35 divergent transcript non-coding RNA RNA, long non-coding Approved 2p24.1 02p24.1 Divergent transcripts 1990 2021-07-30 2021-07-30 101928222 ENSG00000227210 NR_110235 +HGNC:30696 WDR36 WD repeat domain 36 protein-coding gene gene with protein product Approved 5q22.1 05q22.1 "TA-WDRP|UTP21" GLC1G glaucoma 1, open angle, G "WD repeat domain containing|UTPb subcomplex" "362|1225" 2004-03-16 2016-10-05 134430 ENSG00000134987 OTTHUMG00000128790 uc063fxy.1 AF385437 NM_139281 CCDS4102 Q8NI36 "15590835|15677485" MGI:1917819 RGD:1586463 609669 120509 HGNC:30696 "ENST00000513710.4|NM_139281.3" +HGNC:31406 WDR37 WD repeat domain 37 protein-coding gene gene with protein product Approved 10p15.3 10p15.3 KIAA0982 WD repeat domain containing 362 2004-04-06 2022-02-01 22884 ENSG00000047056 OTTHUMG00000017540 uc031ptc.1 AB023199 NM_014023 CCDS7057 Q9Y2I8 "10231032|11230166" MGI:1920393 RGD:1306189 618586 HGNC:31406 "ENST00000263150.9|NM_014023.4" HGNC:31406 +HGNC:23745 WDR38 WD repeat domain 38 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 WD repeat domain containing 362 2007-05-31 2014-11-19 401551 ENSG00000136918 OTTHUMG00000020664 uc004box.5 NM_001045476 "CCDS75898|CCDS75899|CCDS43876" Q5JTN6 MGI:1923896 RGD:1562587 HGNC:23745 "ENST00000373574.2|NM_001045476.3" +HGNC:25601 WDR41 WD repeat domain 41 protein-coding gene gene with protein product Approved 5q13.3-q14.1 05q13.3-q14.1 FLJ10904 "WD repeat domain containing|SWC tripartite complex" "362|1695" 2004-06-24 2018-08-14 55255 ENSG00000164253 OTTHUMG00000102169 uc003kff.2 AF115511 NM_018268 CCDS4038 Q9HAD4 29995611 MGI:2445123 RGD:1306363 617502 HGNC:25601 "ENST00000296679.9|NM_018268.4" +HGNC:28945 WDR43 WD repeat domain 43 protein-coding gene gene with protein product Approved 2p23.2 02p23.2 "KIAA0007|NET12|UTP5" UTP5, small subunit (SSU) processome component, homolog (yeast) "WD repeat domain containing|UTPa subcomplex|Small nucleolar RNA protein coding host genes" "362|1483|1835" 2004-09-01 2018-11-22 23160 ENSG00000163811 OTTHUMG00000152015 uc002rmo.3 D87716 NM_015131 CCDS46251 Q15061 "7584026|7584028|17699751" MGI:1919765 RGD:1565005 616195 HGNC:28945 "ENST00000407426.8|NM_015131.3" +HGNC:30512 WDR44 WD repeat domain 44 protein-coding gene gene with protein product Approved Xq24 Xq24 "DKFZp686L20145|RPH11|RAB11BP|SYM-4" rabphilin-11 "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2004-09-02 2022-01-10 54521 ENSG00000131725 OTTHUMG00000022254 uc004eqn.4 AK001978 NM_019045 "CCDS55483|CCDS55482|CCDS14572" Q5JSH3 "10077598|10464283|31204173" MGI:1919654 RGD:727965 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/WDR44 301070 HGNC:30512 "ENST00000254029.8|NM_019045.5" +HGNC:28912 WDR45 WD repeat domain 45 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "JM5|WIPI4|NBIA5" neurodegeneration with brain iron accumulation 5 WDRX1 WD repeat domain, X-linked 1 "WD repeat domain containing|WIPI family" "362|1568" 2004-06-02 2004-09-03 2004-09-02 2021-03-15 11152 ENSG00000196998 OTTHUMG00000034500 uc004dmp.2 BC003037 NM_007075 "CCDS14318|CCDS35250" Q9Y484 "23176820|23435086|33636118" MGI:1859606 RGD:1359718 300526 331721 HGNC:28912 "ENST00000376372.9|NM_001029896.2" HGNC:28912 +HGNC:25072 WDR45B WD repeat domain 45B protein-coding gene gene with protein product Approved 17q25.3 17q25.3 WIPI3 WDR45L WDR45-like "WD repeat domain containing|WIPI family" "362|1568" 2004-09-02 2013-01-11 2013-01-11 2021-03-15 56270 ENSG00000141580 OTTHUMG00000150146 uc002kfq.3 AF091083 NM_019613 CCDS11815 Q5MNZ6 33636118 MGI:1914090 RGD:1305141 609226 471330 HGNC:25072 "ENST00000392325.9|NM_019613.4" HGNC:25072 +HGNC:26605 WDR45BP1 WD repeat domain 45B pseudogene 1 pseudogene pseudogene Approved 17q11.2 17q11.2 WDR45LP1 WDR45-like pseudogene 1 2004-09-03 2013-01-11 2013-01-11 2020-04-20 646086 ENSG00000265574 OTTHUMG00000179563 NG_005857 PGOHUM00000237024 HGNC:26605 +HGNC:52406 WDR45P1 WD repeat domain 45 pseudogene 1 pseudogene pseudogene Approved 4q31.3 04q31.3 2016-10-25 2016-10-25 594841 ENSG00000248208 OTTHUMG00000161524 NG_005192 PGOHUM00000307832 HGNC:52406 +HGNC:13923 WDR46 WD repeat domain 46 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "BING4|UTP7" C6orf11 chromosome 6 open reading frame 11 "WD repeat domain containing|SSU processome|MicroRNA protein coding host genes" "362|1484|1691" 2001-04-06 2005-05-31 2005-05-31 2016-10-05 9277 ENSG00000227057 OTTHUMG00000031192 uc011fqu.3 Z97184 NM_005452 CCDS4772 O15213 "9545376|9521053|24754225" MGI:1931871 RGD:2209 611440 HGNC:13923 "ENST00000374617.9|NM_005452.6" +HGNC:29141 WDR47 WD repeat domain 47 protein-coding gene gene with protein product Approved 1p13.3 01p13.3 KIAA0893 nemitin WD repeat domain containing 362 2004-11-12 2017-10-16 22911 ENSG00000085433 OTTHUMG00000011734 uc001dwi.4 AB020700 NM_014969 "CCDS44187|CCDS30787|CCDS44186" O94967 "10048485|22523538" MGI:2139593 RGD:1309181 615734 HGNC:29141 "ENST00000369962.8|NM_001142551.2" +HGNC:30914 WDR48 WD repeat domain 48 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "KIAA1449|P80|SPG60|Bun62" WD repeat domain containing 362 2005-01-10 2021-03-15 57599 ENSG00000114742 OTTHUMG00000155972 uc003cit.4 AF468833 NM_020839 CCDS33738 Q8TAF3 "12196293|32587090" MGI:1914811 RGD:1309702 612167 403350 HGNC:30914 "ENST00000302313.10|NM_020839.4" HGNC:30914 +HGNC:26587 WDR49 WD repeat domain 49 protein-coding gene gene with protein product Approved 3q26.1 03q26.1 FLJ33620 WD repeat domain containing 362 2005-01-31 2015-09-03 151790 ENSG00000174776 OTTHUMG00000158290 uc003fev.2 AK097556 NM_178824 CCDS3201 Q8IV35 12477932 MGI:3645287 RGD:1564622 HGNC:26587 "ENST00000682715.1|NM_001366157.1" +HGNC:28786 WDR53 WD repeat domain 53 protein-coding gene gene with protein product Approved 3q29 03q29 "MGC64882|MGC12928" WD repeat domain containing 362 2005-02-01 2014-11-19 348793 ENSG00000185798 OTTHUMG00000155572 uc003fwt.4 BC054030 NM_182627 "CCDS87187|CCDS87186|CCDS3318" Q7Z5U6 12477932 MGI:1916230 RGD:1559546 615110 HGNC:28786 "ENST00000332629.7|NM_182627.3" +HGNC:25770 WDR54 WD repeat domain 54 protein-coding gene gene with protein product Approved 2p13.1 02p13.1 FLJ12953 WD repeat domain containing 362 2005-02-08 2019-03-21 84058 ENSG00000005448 OTTHUMG00000129951 uc002slb.4 AK023015 NM_032118 "CCDS82473|CCDS1940" Q9H977 30458214 MGI:1922909 RGD:1561494 HGNC:25770 "ENST00000348227.4|NM_032118.4" +HGNC:25971 WDR55 WD repeat domain 55 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "FLJ20195|FLJ21702" WD repeat domain containing 362 2005-02-24 2019-03-21 54853 ENSG00000120314 OTTHUMG00000129506 uc003lgr.5 AK000202 NM_017706 CCDS4235 Q9H6Y2 18769712 MGI:1915186 HGNC:25971 "ENST00000358337.10|NM_017706.5" +HGNC:25706 WDR59 WD repeat domain 59 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 FLJ12270 "WD repeat domain containing|GATOR2 subcomplex" "362|1395" 2005-04-12 2015-07-22 79726 ENSG00000103091 OTTHUMG00000170831 uc002fdh.2 AB067510 NM_030581 "CCDS32488|CCDS82011" Q6PJI9 11572484 MGI:2442115 RGD:1592213 617418 HGNC:25706 "ENST00000262144.11|NM_030581.4" +HGNC:30300 WDR61 WD repeat domain 61 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "REC14|SKI8" "SKI complex component SKI8 (S. cerevisiae)|Ski complex subunit Rec14 (S. pombe)" "WD repeat domain containing|Paf1/RNA polymerase II complex |SKI complex subunits" "362|1029|2119" 2005-04-26 2021-12-09 80349 ENSG00000140395 OTTHUMG00000143735 uc002bdn.4 NM_025234 "CCDS76785|CCDS10300" Q9GZS3 12477932 MGI:1917493 RGD:1308228 609540 HGNC:30300 "ENST00000267973.7|NM_025234.3" +HGNC:24502 WDR62 WD repeat domain 62 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "DKFZP434J046|FLJ33298" "C19orf14|MCPH2" "chromosome 19 open reading frame 14|microcephaly, primary autosomal recessive 2" WD repeat domain containing 362 2004-02-11 2005-05-09 2005-05-09 2022-02-01 284403 ENSG00000075702 OTTHUMG00000048139 uc002odc.3 BX647726 NM_015671 "CCDS33001|CCDS46059" O43379 "19910486|20729831|20890278|34137788|34137789" MGI:1923696 RGD:1306714 613583 239949 HGNC:24502 "ENST00000401500.7|NM_001083961.2" HGNC:24502 +HGNC:26570 WDR64 WD repeat domain 64 protein-coding gene gene with protein product Approved 1q43 01q43 FLJ32978 WD repeat domain containing 362 2005-05-13 2014-11-18 128025 ENSG00000162843 OTTHUMG00000039705 uc001hzg.3 AK057540 NM_144625 B1ANS9 MGI:1923070 RGD:1591103 HGNC:26570 "ENST00000437684.7|NM_001367482.1" +HGNC:25495 WDR70 WD repeat domain 70 protein-coding gene gene with protein product Approved 5p13.2 05p13.2 FLJ10233 WD repeat domain containing 362 2005-05-26 2019-03-21 55100 ENSG00000082068 OTTHUMG00000162263 uc003jkv.4 BC009648 NM_018034 CCDS34147 Q9NW82 28591950 MGI:1921020 RGD:1309487 617233 HGNC:25495 "ENST00000265107.9|NM_018034.4" +HGNC:26790 WDR72 WD repeat domain 72 protein-coding gene gene with protein product Approved 15q21.3 15q21.3 FLJ38736 WD repeat domain containing 362 2005-05-26 2015-08-26 256764 ENSG00000166415 OTTHUMG00000131939 uc031qse.1 BX537884 NM_182758 "CCDS10151|CCDS73730" Q3MJ13 "19853237|25008349" MGI:3583957 RGD:1563550 613214 225293 HGNC:26790 "ENST00000360509.10|NM_182758.4" HGNC:26790 +HGNC:25928 WDR73 WD repeat domain 73 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ14888|HSPC264" WD repeat domain containing 362 2005-05-26 2019-03-21 84942 ENSG00000177082 OTTHUMG00000172375 uc002bkw.3 AK027200 NM_032856 CCDS45339 Q6P4I2 25466283 MGI:1919218 RGD:1306429 616144 420151 HGNC:25928 "ENST00000434634.7|NM_032856.5" HGNC:25928 +HGNC:25529 WDR74 WD repeat domain 74 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 "FLJ10439|Nsa1" WD repeat domain containing 362 2005-05-27 2020-11-17 54663 ENSG00000133316 OTTHUMG00000167695 uc009yoi.3 NM_018093 "CCDS76421|CCDS44630" Q6RFH5 "26456651|28416111" MGI:2147427 RGD:1582881 617947 HGNC:25529 "ENST00000278856.9|NM_001369450.1" +HGNC:25725 WDR75 WD repeat domain 75 protein-coding gene gene with protein product Approved 2q32.2 02q32.2 "FLJ12519|NET16|UTP17" UTP17, small subunit (SSU) processome component, homolog (yeast) "WD repeat domain containing|UTPa subcomplex" "362|1483" 2005-05-27 2019-02-01 84128 ENSG00000115368 OTTHUMG00000132660 uc002uql.2 AK091546 NM_032168 CCDS2298 Q8IWA0 17699751 MGI:1920924 RGD:1564869 HGNC:25725 "ENST00000314761.9|NM_032168.3" +HGNC:25773 WDR76 WD repeat domain 76 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 FLJ12973 WD repeat domain containing 362 2005-05-27 2014-11-19 79968 ENSG00000092470 OTTHUMG00000060143 uc001zti.3 AK023035 NM_024908 "CCDS10106|CCDS53938" Q9H967 12860291 MGI:1926186 RGD:1309616 HGNC:25773 "ENST00000263795.11|NM_024908.4" +HGNC:29652 WDR77 WD repeat domain 77 protein-coding gene gene with protein product Approved 1p13.2 01p13.2 "MEP50|p44" methylosome protein 50 WD repeat domain containing 362 2005-06-27 2005-08-09 2015-08-11 79084 ENSG00000116455 OTTHUMG00000011748 uc001ebb.4 BC016946 NM_024102 CCDS835 Q9BQA1 "11756452|8619474" MGI:1917715 RGD:1310479 611734 HGNC:29652 "ENST00000235090.10|NM_024102.4" +HGNC:26600 WDR81 WD repeat domain 81 protein-coding gene gene with protein product Approved 17p13.3 17p13.3 "FLJ33817|PPP1R166|CAMRQ2|SORF-2" protein phosphatase 1, regulatory subunit 166 "WD repeat domain containing|Protein phosphatase 1 regulatory subunits|BEACH domain containing |Armadillo like helical domain containing" "362|694|1230|1492" 2005-12-16 2016-05-03 124997 ENSG00000167716 OTTHUMG00000153941 uc010vqp.1 AK074111 NM_152348 "CCDS54061|CCDS54062|CCDS54063" Q562E7 "21885617|26783301|27126989" MGI:2681828 RGD:1311334 614218 327288 HGNC:26600 "ENST00000409644.6|NM_001163809.2" HGNC:26600 +HGNC:28826 WDR82 WD repeat domain 82 protein-coding gene gene with protein product Approved 3p21.2 03p21.2 "PRO2730|MST107|MSTP107|PRO34047|WDR82A|SWD2" TMEM113 transmembrane protein 113 "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2006-01-06 2007-07-04 2007-07-04 2014-11-19 80335 ENSG00000164091 OTTHUMG00000150391 uc003ddl.3 AF132207 NM_025222 CCDS2851 Q6UXN9 17355966 MGI:1924555 RGD:1584269 611059 HGNC:28826 "ENST00000296490.8|NM_025222.4" +HGNC:32447 WDR82P1 WD repeat domain 82 pseudogene 1 pseudogene pseudogene Approved 3q11.2 03q11.2 "SW2|hCG26824|WDR82B" WDR82 WD repeat domain 82 2006-01-06 2007-07-04 2007-07-04 2020-04-20 728505 ENSG00000234629 OTTHUMG00000159020 XM_001127580 PGOHUM00000237686 HGNC:32447 +HGNC:33513 WDR82P2 WD repeat domain 82 pseudogene 2 pseudogene pseudogene Approved 1p22.1 01p22.1 WDR82C 2007-07-04 2007-07-04 2014-11-25 441891 ENSG00000241318 OTTHUMG00000010094 NG_006032 PGOHUM00000295744 HGNC:33513 +HGNC:32672 WDR83 WD repeat domain 83 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 MORG1 MAPK organizer 1 "WD repeat domain containing|Spliceosomal C complex|Spliceosomal P complex" "362|1510|1516" 2010-01-25 2013-01-09 84292 ENSG00000123154 OTTHUMG00000169356 uc002mue.5 AK074525 NM_032332 CCDS12275 Q9BRX9 "15118098|16407229" MGI:1915086 RGD:1306947 616850 HGNC:32672 "ENST00000418543.8|NM_001099737.3" +HGNC:30203 WDR83OS WD repeat domain 83 opposite strand protein-coding gene gene with protein product Approved 19p13.13 19p13.13 "PTD008|Asterix" C19orf56 chromosome 19 open reading frame 56 2006-08-21 2011-11-24 2011-11-24 2020-09-04 51398 ENSG00000105583 OTTHUMG00000182617 uc002mud.3 AF151898 NM_016145 CCDS12274 Q9Y284 "10810093|31266804" MGI:3041257 RGD:1564058 618474 HGNC:30203 "ENST00000596731.7|NM_016145.4" +HGNC:28020 WDR86 WD repeat domain 86 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 WD repeat domain containing 362 2006-07-06 2015-08-26 349136 ENSG00000187260 OTTHUMG00000150764 uc003wkb.3 AK125347 NM_198285 "CCDS64805|CCDS64806|CCDS75680|CCDS5925" Q86TI4 12477932 MGI:1915466 RGD:1566180 HGNC:28020 "ENST00000334493.11|NM_198285.3" +HGNC:41186 WDR86-AS1 WDR86 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 WDR86 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2014-11-19 100131176 ENSG00000243836 OTTHUMG00000157360 uc033apx.2 AK095986 NR_034012 WDR86-AS1 HGNC:41186 +HGNC:29934 WDR87 WD repeat domain 87 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 NYD-SP11 "WD repeat domain containing|Armadillo like helical domain containing" "362|1492" 2006-07-06 2015-09-03 83889 ENSG00000171804 OTTHUMG00000048187 uc010efu.3 AK128826 NM_031951 "CCDS46063|CCDS74356" Q6ZQQ6 MGI:2149781 RGD:1585333 HGNC:29934 "ENST00000447313.7|NM_001291088.2" +HGNC:55125 WDR87BP WD repeat domain 87B, pseudogene pseudogene pseudogene Approved 19q13.13 19q13.13 2020-07-02 2020-07-02 100631378 ENSG00000225868 NR_040015 PGOHUM00000294997 +HGNC:26999 WDR88 WD repeat domain 88 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 PQWD PQQ repeat and WD repeat domain containing WD repeat domain containing 362 2006-07-06 2007-04-04 2007-04-04 2015-09-08 126248 ENSG00000166359 OTTHUMG00000180342 uc002nui.4 BC031227 NM_173479 CCDS12429 Q6ZMY6 12477932 MGI:2686275 RGD:1560122 HGNC:26999 "ENST00000355868.4|NM_173479.4" +HGNC:20489 WDR89 WD repeat domain 89 protein-coding gene gene with protein product Approved 14q23.2 14q23.2 MGC9907 C14orf150 WD repeat domain containing 362 2004-06-11 2006-07-07 2014-11-18 112840 ENSG00000140006 OTTHUMG00000140340 uc059chs.1 AF115513 NM_080666 CCDS9759 Q96FK6 MGI:1919588 RGD:1307393 HGNC:20489 "ENST00000620954.2|NM_080666.4" +HGNC:26960 WDR90 WD repeat domain 90 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ36483|KIAA1924|POC16" "C16orf17|C16orf15|C16orf16|C16orf19|C16orf18" "chromosome 16 open reading frame 17|chromosome 16 open reading frame 15|chromosome 16 open reading frame 16|chromosome 16 open reading frame 19|chromosome 16 open reading frame 18" WD repeat domain containing 362 2006-07-07 2020-01-28 197335 ENSG00000161996 OTTHUMG00000048040 uc002cii.2 AB067511 NM_145294 CCDS42092 Q96KV7 "11572484|11157797|28781053" MGI:1921267 RGD:7520481 618290 HGNC:26960 "ENST00000293879.9|NM_145294.5" +HGNC:24997 WDR91 WD repeat domain 91 protein-coding gene gene with protein product Approved 7q33 07q33 "HSPC049|SORF-1" "WD repeat domain containing|MicroRNA protein coding host genes" "362|1691" 2007-06-18 2016-03-01 29062 ENSG00000105875 OTTHUMG00000155414 uc003vsp.3 AF161534 NM_014149 CCDS34758 A4D1P6 26783301 MGI:2141558 RGD:1306697 616303 HGNC:24997 "ENST00000354475.5|NM_014149.4" +HGNC:26924 WDR93 WD repeat domain 93 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "FAP297|C1d-87|CFAP297" "WD repeat domain containing|Cilia and flagella associated" "362|1491" 2007-11-19 2020-01-28 56964 ENSG00000140527 OTTHUMG00000172007 uc002boj.3 NM_020212 "CCDS73779|CCDS32326|CCDS66862" Q6P2C0 22573824 MGI:3646885 RGD:1559862 HGNC:26924 "ENST00000268130.12|NM_020212.2" HGNC:26924 +HGNC:42637 WDR95P WD repeat domain 95, pseudogene pseudogene pseudogene Approved 13q12.3 13q12.3 WD40 repeat domain 95, pseudogene WD repeat domain containing 362 2011-08-10 2014-04-14 2020-08-13 100873795 ENSG00000231894 OTTHUMG00000016687 NG_032519 HGNC:42637 +HGNC:26959 WDR97 WD repeat domain 97 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA1875 KIAA1875 WD repeat domain containing 362 2005-09-23 2015-10-09 2015-10-09 2015-10-09 340390 ENSG00000179698 OTTHUMG00000165245 AB058778 NM_001316309 CCDS83334 A6NE52 11347906 MGI:5594498 RGD:1562063 HGNC:26959 "ENST00000323662.9|NM_001316309.2" +HGNC:26697 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 protein-coding gene gene with protein product Approved 2q24.2 02q24.2 "UBOX6|FLJ36175" WDSAM1 "WD repeat and SAM domain containing 1|WD repeat, SAM and U-box domain containing 1" "WD repeat domain containing|U-box domain containing|Sterile alpha motif domain containing" "362|365|760" 2004-07-15 2005-03-25 2006-02-17 2019-03-21 151525 ENSG00000196151 OTTHUMG00000132028 uc002ual.5 AK093494 NM_152528 "CCDS82525|CCDS2208|CCDS77477" Q8N9V3 20979629 MGI:1919387 RGD:1359296 HGNC:26697 "ENST00000359774.9|NM_001128212.3" +HGNC:29175 WDTC1 WD and tetratricopeptide repeats 1 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "KIAA1037|ADP|DCAF9" "adipose homolog (Drosophila)|DDB1 and CUL4 associated factor 9" "WD repeat domain containing|DDB1 and CUL4 associated factors|Tetratricopeptide repeat domain containing" "362|498|769" 2003-12-22 2016-10-05 23038 ENSG00000142784 OTTHUMG00000004273 uc001bno.5 AK023778 NM_015023 "CCDS296|CCDS60044" Q8N5D0 "12717455|19238144" MGI:2685541 RGD:1310362 619763 HGNC:29175 "ENST00000319394.8|NM_001276252.2" +HGNC:55858 WDTC1-DT WDTC1 divergent transcript non-coding RNA RNA, long non-coding Approved 1p36.11 01p36.11 Divergent transcripts 1990 2021-09-03 2021-09-03 105376890 ENSG00000224311 XR_007065560 +HGNC:12761 WEE1 WEE1 G2 checkpoint kinase protein-coding gene gene with protein product Approved 11p15.4 11p15.4 WEE1A "wee1+ (S. pombe) homolog|WEE1 homolog (S. pombe)" 1992-08-06 2013-10-21 2016-07-28 7465 ENSG00000166483 OTTHUMG00000165863 uc001mhs.4 X62048 NM_003390 "CCDS44536|CCDS7800" P30291 1840647 MGI:103075 RGD:1307895 193525 objectId:2278 2.7.10.2 HGNC:12761 "ENST00000450114.7|NM_003390.4" +HGNC:56216 WEE1P1 WEE1 pseudogene 1 pseudogene pseudogene Approved 4p16.3 04p16.3 2022-03-23 2022-03-23 100129037 ENSG00000250238 NG_022001 PGOHUM00000299723 +HGNC:56217 WEE1P2 WEE1 pseudogene 2 pseudogene pseudogene Approved 17p11.1 17p11.1 2022-03-23 2022-03-23 100129683 ENSG00000264970 NG_022464 +HGNC:19684 WEE2 WEE2 oocyte meiosis inhibiting kinase protein-coding gene gene with protein product Approved 7q34 07q34 "FLJ16107|WEE1B" "WEE1 homolog 2 (S. pombe)|WEE1 homolog 2" 2005-01-21 2019-09-16 2021-05-26 494551 ENSG00000214102 OTTHUMG00000157536 uc003vwn.2 AK131218 NM_001105558 CCDS43660 P0C1S8 "28792760|23616086" MGI:3027899 RGD:1587197 614084 objectId:2279 2.7.10.2 HGNC:19684 "ENST00000397541.6|NM_001105558.1" HGNC:19684 +HGNC:48669 WEE2-AS1 WEE2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q34 07q34 Antisense RNAs 1987 2013-06-04 2013-06-04 285962 ENSG00000228775 OTTHUMG00000157538 NR_015392 WEE2-AS1 HGNC:48669 +HGNC:51823 WEE2P1 WEE2 pseudogene 1 pseudogene pseudogene Approved 11p13 11p13 2022-03-23 2022-03-23 100420018 ENSG00000254672 OTTHUMG00000166449 NG_024328 PGOHUM00000290436 +HGNC:15466 WFDC1 WAP four-disulfide core domain 1 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 PS20 WAP four-disulfide core domain containing 361 2001-03-30 2016-04-20 58189 ENSG00000103175 OTTHUMG00000137641 uc002fhw.5 AF302109 NM_001282466 CCDS10946 Q9HC57 "10967136|21936833" MGI:1915116 RGD:68938 605322 I17.005 HGNC:15466 "ENST00000219454.10|NM_021197.4" +HGNC:15939 WFDC2 WAP four-disulfide core domain 2 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "HE4|WAP5|dJ461P17.6|EDDM4" "epididymal protein 4|human epididymis protein 4" WAP four-disulfide core domain containing 361 2001-07-31 2020-12-09 10406 ENSG00000101443 OTTHUMG00000032594 uc002xoo.4 X63187 NM_006103 CCDS35501 Q14508 "1686187|10570965" MGI:1914951 RGD:628757 617548 I17.004 HGNC:15939 "ENST00000372676.8|NM_006103.4" +HGNC:15957 WFDC3 WAP four-disulfide core domain 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ447F3.3|WAP14" WAP four-disulfide core domain containing 361 2001-09-17 2015-09-08 140686 ENSG00000124116 OTTHUMG00000032614 uc002xpf.1 AL050348 NM_080614 CCDS33478 Q8IUB2 "12206714|10680116" MGI:1923897 RGD:1305295 I17.001 HGNC:15957 "ENST00000243938.9|NM_080614.2" +HGNC:20477 WFDC5 WAP four-disulfide core domain 5 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "WAP1|dJ211D12.5" WAP four-disulfide core domain containing 361 2003-02-21 2016-10-05 149708 ENSG00000175121 OTTHUMG00000046411 uc002xne.2 AY038181 NM_001395506 CCDS33475 Q8TCV5 "12206714|10680116" MGI:2384800 RGD:1304986 605161 I17.003 HGNC:20477 +HGNC:16164 WFDC6 WAP four-disulfide core domain 6 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ461P17.11|WAP6" C20orf171 chromosome 20 open reading frame 171 WAP four-disulfide core domain containing 361 2001-07-17 2003-02-21 2003-02-21 2016-10-05 140870 ENSG00000243543 OTTHUMG00000046354 uc002xos.2 AL031663 NM_080827 CCDS13358 Q9BQY6 12206714 MGI:2684968 RGD:1597730 I17.953 HGNC:16164 "ENST00000372670.8|NM_080827.2" +HGNC:16163 WFDC8 WAP four-disulfide core domain 8 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ461P17.1|WAP8" C20orf170 chromosome 20 open reading frame 170 WAP four-disulfide core domain containing 361 2001-07-17 2003-02-21 2003-02-21 2016-10-05 90199 ENSG00000158901 OTTHUMG00000046342 uc002xow.4 AL031663 NM_130896 CCDS13361 Q8IUA0 12206714 MGI:2685552 RGD:1597713 I02.971 HGNC:16163 "ENST00000289953.3|NM_130896.3" +HGNC:20380 WFDC9 WAP four-disulfide core domain 9 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "WAP9|dJ688G8.2" WAP four-disulfide core domain containing 361 2003-02-21 2015-08-26 259240 ENSG00000180205 OTTHUMG00000046332 uc002xoy.3 AL031671 NM_147198 CCDS13362 Q8NEX5 12206714 MGI:3652032 RGD:1303087 HGNC:20380 "ENST00000326000.2|NM_147198.4" +HGNC:16139 WFDC10A WAP four-disulfide core domain 10A protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ688G8.3|WAP10" C20orf146 chromosome 20 open reading frame 146 WAP four-disulfide core domain containing 361 2001-07-17 2003-02-21 2003-02-21 2016-10-05 140832 ENSG00000180305 OTTHUMG00000046331 uc002xoz.4 AL031671 NM_080753 CCDS13363 Q9H1F0 12206714 MGI:3616889 RGD:1596480 HGNC:16139 "ENST00000372643.4|NM_080753.3" +HGNC:20479 WFDC10B WAP four-disulfide core domain 10B protein-coding gene gene with protein product Approved 20q13.12 20q13.12 WAP12 WAP four-disulfide core domain containing 361 2003-02-21 2015-09-03 280664 ENSG00000182931 OTTHUMG00000130227 uc002xpc.4 AF454506 NM_172006 "CCDS13365|CCDS13366" Q8IUB3 12206714 MGI:3616889 HGNC:20479 "ENST00000330523.10|NM_172006.2" +HGNC:20478 WFDC11 WAP four-disulfide core domain 11 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 WAP11 WAP four-disulfide core domain containing 361 2003-02-21 2015-09-03 259239 ENSG00000180083 OTTHUMG00000046330 uc061xin.1 AY047609 NM_147197 CCDS13364 Q8NEX6 12206714 MGI:3651686 RGD:1596469 HGNC:20478 "ENST00000324384.4|NM_147197.2" +HGNC:16115 WFDC12 WAP four-disulfide core domain 12 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ211D12.4|WAP2" C20orf122 chromosome 20 open reading frame 122 WAP four-disulfide core domain containing 361 2001-07-17 2003-02-21 2003-02-21 2020-08-17 128488 ENSG00000168703 OTTHUMG00000046412 uc002xnf.2 Z93016 NM_080869 CCDS13343 Q8WWY7 "11779191|12206714" MGI:2183434 RGD:1303229 609872 I17.003 HGNC:16115 "ENST00000372785.3|NM_080869.2" +HGNC:16131 WFDC13 WAP four-disulfide core domain 13 protein-coding gene gene with protein product Approved 20q13.11 20q13.11 "dJ601O1.3|WAP13" C20orf138 chromosome 20 open reading frame 138 WAP four-disulfide core domain containing 361 2001-07-17 2003-02-21 2003-02-21 2015-08-26 164237 ENSG00000168634 OTTHUMG00000046333 uc002xpd.3 AF454505 NM_172005 CCDS13367 Q8IUB5 12206714 MGI:3582777 RGD:2319575 HGNC:16131 "ENST00000305479.3|NM_172005.2" +HGNC:50357 WFDC21P WAP four-disulfide core domain 21, pseudogene pseudogene pseudogene Approved 17q23.1 17q23.1 "LOC645638|lnc-DC|LNCDC" "long non-coding RNA, dendritic cell differentiation|WDNM1-like, pseudogene|lnc-dendritic cell lncRNA" 2014-06-16 2017-06-01 645638 ENSG00000261040 OTTHUMG00000176074 NR_030732 "24744378|26158411" MGI:1913357 615772 lnc-dc HGNC:50357 +HGNC:30912 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "RJD2|WFIKKN|WFDC20A" WAP four-disulfide core domain 20A C16orf12 chromosome 16 open reading frame 12 "WAP four-disulfide core domain containing|I-set domain containing" "361|593" 2004-08-24 2016-10-05 117166 ENSG00000127578 OTTHUMG00000090359 uc002cht.2 AK075356 NM_053284 CCDS10414 Q96NZ8 "11274388|11928817" MGI:2670967 RGD:1565835 608021 LI90-001 HGNC:30912 "ENST00000319070.3|NM_053284.3" +HGNC:30916 WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "WFIKKNRP|WFDC20B" WAP four-disulfide core domain 20B "WAP four-disulfide core domain containing|I-set domain containing" "361|593" 2004-08-24 2014-11-19 124857 ENSG00000173714 OTTHUMG00000162274 uc002isv.5 AY358142 NM_175575 "CCDS82159|CCDS11575" Q8TEU8 "11928817|12709070" MGI:2669209 RGD:1305361 610895 LI90-002 HGNC:30916 "ENST00000311378.5|NM_175575.6" +HGNC:12762 WFS1 wolframin ER transmembrane glycoprotein protein-coding gene gene with protein product Approved 4p16.1 04p16.1 "DIDMOAD|WFS" "DFNA6|DFNA14|DFNA38" Wolfram syndrome 1 (wolframin) 1995-01-30 2016-02-17 2021-05-26 7466 ENSG00000109501 OTTHUMG00000090431 uc003gix.3 AF084481 NM_001145853 CCDS3386 O76024 "7987399|9771706" MGI:1328355 RGD:68954 "Hereditary Hearing Loss Homepage|http://hereditaryhearingloss.org|LRG_1417|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1417.xml" 606201 120514 HGNC:12762 "ENST00000226760.5|NM_006005.3" HGNC:12762 +HGNC:30493 WHAMM WASP homolog associated with actin, golgi membranes and microtubules protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "KIAA1971|WHAMM1" WHDC1 "WAS protein homology region 2 domain containing 1|WAS protein homolog associated with actin, golgi membranes and microtubules" Wiskott-Aldrich Syndrome protein family 14 2005-10-25 2009-02-18 2019-02-15 2021-07-05 123720 ENSG00000156232 OTTHUMG00000172422 uc002bje.5 AK126887 NM_001080435 CCDS45333 Q8TF30 "11853319|18226259|18614018|18812086" MGI:2142282 RGD:1563506 612393 HGNC:30493 "ENST00000286760.5|NM_001080435.3" +HGNC:32361 WHAMMP1 WHAMM pseudogene 1 pseudogene pseudogene Approved 15q13.3 15q13.3 WHDC1P1 "WAS protein homology region 2 domain containing 1 pseudogene 1|WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 1" 2005-10-25 2009-02-18 2021-07-05 2021-07-05 100288615 ENSG00000223509 AC009673 NR_036650 PGOHUM00000292898 HGNC:32361 +HGNC:32360 WHAMMP2 WHAMM pseudogene 2 pseudogene pseudogene Approved 15q13.1 15q13.1 "WHDC1L2|WHAMML2" "WAS protein homology region 2 domain containing 1-like 2 (pseudogene)|WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)|WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2" 2005-10-25 2011-06-24 2021-07-05 2021-07-05 440253 ENSG00000248334 OTTHUMG00000176340 BC035099 NR_026589 PGOHUM00000247031 HGNC:32360 +HGNC:27892 WHAMMP3 WHAMM pseudogene 3 pseudogene pseudogene Approved 15q11.2 15q11.2 "WHDC1L1|WHAMML1" "WAS protein homology region 2 domain containing 1-like 1|WAS protein homolog associated with actin, golgi membranes and microtubules-like 1|WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)|WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3" 2005-10-25 2011-06-24 2021-07-05 2021-07-05 339005 ENSG00000276141 OTTHUMG00000188382 BC048987 NR_003521 Q1A5X7 18226259 PGOHUM00000293128 HGNC:27892 +HGNC:55700 WHAMMP4 WHAMM pseudogene 4 pseudogene pseudogene Approved 15q13.2 15q13.2 2021-07-05 2021-07-05 100288203 ENSG00000215302 NR_146103 PGOHUM00000293171 +HGNC:16361 WHRN whirlin protein-coding gene gene with protein product Approved 9q32 09q32 "CIP98|USH2D|PDZD7B" DFNB31 deafness, autosomal recessive 31 "PDZ domain containing|USH2 complex " "1220|1244" 2001-08-14 2016-05-17 2016-05-17 2021-05-26 25861 ENSG00000095397 OTTHUMG00000020539 uc004biz.5 AK056190 NM_015404 "CCDS87678|CCDS43870|CCDS6806" Q9P202 "12833159|17171570" MGI:2682003 RGD:631330 "CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=DFNB31|LRG_1094|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1094.xml" 607928 139217 HGNC:16361 "ENST00000362057.4|NM_015404.4" HGNC:16361 +HGNC:14647 WHSC1L2P Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene pseudogene pseudogene Approved 17q21.31 17q21.31 "NSD4P|HsT36289" WHSC1L1P Wolf-Hirschhorn syndrome candidate 1-like 1 pseudogene 2001-04-25 2011-04-15 2019-02-19 100128016 ENSG00000267253 OTTHUMG00000180887 NG_009508 11549311 PGOHUM00000294120 HGNC:14647 +HGNC:18081 WIF1 WNT inhibitory factor 1 protein-coding gene gene with protein product Approved 12q14.3 12q14.3 Receptor ligands 542 2002-01-29 2016-10-05 11197 ENSG00000156076 OTTHUMG00000168832 uc001ssk.4 AF122922 NM_007191 CCDS8971 Q9Y5W5 10201374 MGI:1344332 RGD:619774 WIF1 605186 ligandId:5372 HGNC:18081 "ENST00000286574.9|NM_007191.5" +HGNC:12736 WIPF1 WAS/WASL interacting protein family member 1 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 WIP WASPIP "Wiskott-Aldrich syndrome protein interacting protein|WAS/WASL interacting protein family, member 1" 1998-03-02 2006-10-12 2015-11-18 2021-04-13 7456 ENSG00000115935 OTTHUMG00000132334 uc002uja.4 AF031588 NM_003387 CCDS2260 O43516 9405671 MGI:2178801 RGD:620887 LRG_374|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_374.xml 602357 292448 HGNC:12736 "ENST00000679041.1|NM_001375834.1" HGNC:12736 +HGNC:30923 WIPF2 WAS/WASL interacting protein family member 2 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 "WICH|WIRE" WAS/WASL interacting protein family, member 2 2006-10-12 2015-11-18 2015-11-18 147179 ENSG00000171475 OTTHUMG00000133331 uc002hug.2 BC025965 NM_133264 CCDS11364 Q8TF74 "12213210|11829459" MGI:1924462 RGD:1561080 609692 HGNC:30923 "ENST00000323571.9|NM_133264.5" +HGNC:22004 WIPF3 WAS/WASL interacting protein family member 3 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 "CR16|FLJ36931" WAS/WASL interacting protein family, member 3 2006-10-12 2015-11-18 2016-10-05 644150 ENSG00000122574 OTTHUMG00000152761 uc022aaz.1 AK094250 NM_001080529 CCDS56472 A6NGB9 MGI:3044681 RGD:708559 612432 HGNC:22004 "ENST00000242140.10|NM_001080529.3" +HGNC:25471 WIPI1 WD repeat domain, phosphoinositide interacting 1 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 "FLJ10055|WIPI49|ATG18|ATG18A" "WD repeat domain containing|Autophagy related|WIPI family" "362|1022|1568" 2005-11-15 2016-03-01 55062 ENSG00000070540 OTTHUMG00000179873 uc010dey.4 NM_017983 "CCDS82193|CCDS11677" Q5MNZ9 "15020712|15602573" MGI:1261864 RGD:1307754 609224 HGNC:25471 "ENST00000262139.10|NM_017983.7" +HGNC:32225 WIPI2 WD repeat domain, phosphoinositide interacting 2 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "ATG21|CGI-50|FLJ12979|FLJ14217|FLJ42984|DKFZP434J154|DKFZp686P02188|ATG18B" "WD repeat domain containing|Autophagy related|WIPI family" "362|1022|1568" 2005-11-15 2016-03-01 26100 ENSG00000157954 OTTHUMG00000121179 uc003snx.4 NM_015610 "CCDS47531|CCDS34593|CCDS5339|CCDS47532|CCDS47533" Q9Y4P8 15602573 MGI:1923831 RGD:1359154 609225 HGNC:32225 "ENST00000288828.9|NM_015610.4" HGNC:32225 +HGNC:30917 WIZ WIZ zinc finger protein-coding gene gene with protein product Approved 19p13.12 19p13.12 ZNF803 widely interspaced zinc finger motifs Zinc fingers C2H2-type 28 2006-10-17 2018-11-22 2018-11-22 58525 ENSG00000011451 OTTHUMG00000182448 uc002nbb.5 AK091183 NM_021241 CCDS42516 O95785 "9795207|12226707|27410475" MGI:1332638 RGD:1307771 619715 HGNC:30917 "ENST00000673675.1|NM_001371589.1" +HGNC:51696 WIZP1 WIZ pseudogene 1 pseudogene pseudogene Approved 11p14.3 11p14.3 widely interspaced zinc finger motifs pseudogene 1 2015-05-07 2018-11-22 2018-11-22 645598 ENSG00000255293 OTTHUMG00000166083 NG_021812 PGOHUM00000290845 HGNC:51696 +HGNC:30238 WLS Wnt ligand secretion mediator protein-coding gene gene with protein product Approved 1p31.3 01p31.3 "FLJ23091|MRP|EVI|mig-14" wntless homolog "C1orf139|GPR177" "chromosome 1 open reading frame 139|G protein-coupled receptor 177|wntless homolog (Drosophila)|wntless Wnt ligand secretion mediator" MicroRNA protein coding host genes 1691 2005-07-08 2010-03-02 2018-11-09 2020-05-04 79971 ENSG00000116729 OTTHUMG00000009153 uc001def.3 BX538320 NM_024911 "CCDS30750|CCDS53331|CCDS642" Q5T9L3 "20652957|30113308" MGI:1915401 RGD:735139 611514 HGNC:30238 "ENST00000262348.9|NM_024911.7" +HGNC:14540 WNK1 WNK lysine deficient protein kinase 1 protein-coding gene gene with protein product Approved 12p13.33 12p13.33 "HSAN2|PPP1R167" protein phosphatase 1, regulatory subunit 167 "PRKWNK1|HSN2" "protein kinase, lysine deficient 1|hereditary sensory neuropathy, type II" "Protein phosphatase 1 regulatory subunits|Minor histocompatibility antigens|WNK lysine deficient protein kinases" "694|870|1899" 2001-02-06 2005-01-21 2005-01-19 2021-05-26 65125 ENSG00000060237 OTTHUMG00000090321 uc001qio.4 AJ296290 NM_018979 "CCDS53731|CCDS8506|CCDS73419" Q9H4A3 MGI:2442092 RGD:621141 "Inherited Peripheral Neuropathies Mutation Database|http://www.molgen.ua.ac.be/CMTMutations/|LRG_247|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_247.xml" 605232 120531 objectId:2280 HGNC:14540 "ENST00000315939.11|NM_018979.4" HGNC:14540 +HGNC:14542 WNK2 WNK lysine deficient protein kinase 2 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "NY-CO-43|KIAA1760" "SDCCAG43|PRKWNK2" serologically defined colon cancer antigen 43 WNK lysine deficient protein kinases 1899 2001-02-07 2005-01-22 2003-06-23 2016-10-05 65268 ENSG00000165238 OTTHUMG00000020247 uc004ati.3 AJ242724 NM_006648 CCDS75858 Q9Y3S1 "9610721|11571656" MGI:1922857 RGD:1307284 606249 objectId:2281 HGNC:14542 "ENST00000427277.7|NM_006648.4" +HGNC:14543 WNK3 WNK lysine deficient protein kinase 3 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 PRKWNK3 protein kinase, lysine deficient 3 WNK lysine deficient protein kinases 1899 2001-02-07 2005-01-22 2005-01-19 2020-04-02 65267 ENSG00000196632 OTTHUMG00000021626 uc004dtc.3 AJ409088 NM_020922 "CCDS14357|CCDS35302" Q9BYP7 MGI:2652875 RGD:1563131 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/WNK3 300358 471336 objectId:2282 HGNC:14543 +HGNC:14544 WNK4 WNK lysine deficient protein kinase 4 protein-coding gene gene with protein product Approved 17q21.2 17q21.2 PRKWNK4 protein kinase, lysine deficient 4 WNK lysine deficient protein kinases 1899 2001-02-07 2005-01-19 2005-01-19 2021-05-26 65266 ENSG00000126562 OTTHUMG00000180650 uc002ibj.4 AJ309861 NM_001321299 CCDS11439 Q96J92 MGI:1917097 RGD:631401 601844 120534 objectId:2283 HGNC:14544 "ENST00000246914.10|NM_032387.5" HGNC:14544 +HGNC:12774 WNT1 Wnt family member 1 protein-coding gene gene with protein product Approved 12q13.12 12q13.12 INT1 wingless-type MMTV integration site family, member 1 Wnt family 360 2001-06-22 2016-03-18 2021-05-26 7471 ENSG00000125084 OTTHUMG00000170403 uc001rsu.4 X03072 NM_005430 CCDS8776 P04628 "2998762|3281802" MGI:98953 RGD:1597195 164820 331934 ligandId:3672 HGNC:12774 "ENST00000293549.4|NM_005430.4" HGNC:12774 +HGNC:12780 WNT2 Wnt family member 2 protein-coding gene gene with protein product Approved 7q31.2 07q31.2 IRP secreted growth factor INT1L1 wingless-type MMTV integration site family member 2 Wnt family 360 1988-08-05 2016-03-18 2016-10-05 7472 ENSG00000105989 OTTHUMG00000023428 uc003viz.4 X07876 NM_003391 CCDS5771 P09544 2971536 MGI:98954 RGD:621346 147870 ligandId:3673 HGNC:12780 "ENST00000265441.8|NM_003391.3" +HGNC:12781 WNT2B Wnt family member 2B protein-coding gene gene with protein product Approved 1p13.2 01p13.2 XWNT2 "XWNT2, Xenopus, homolog of|wingless-type MMTV integration site family, member 13" WNT13 wingless-type MMTV integration site family, member 2B Wnt family 360 1997-09-05 2016-03-18 2021-05-26 7482 ENSG00000134245 OTTHUMG00000011157 uc001ecb.4 AB045116 NM_004185 "CCDS847|CCDS846|CCDS76188" Q93097 "8761309|10944466" MGI:1261834 RGD:69346 601968 ligandId:3674 HGNC:12781 "ENST00000369684.5|NM_024494.3" HGNC:12781 +HGNC:12782 WNT3 Wnt family member 3 protein-coding gene gene with protein product Approved 17q21.31-q21.32 17q21.31-q21.32 "MGC131950|MGC138321|MGC138323" WNT-3 proto-oncogene protein INT4 wingless-type MMTV integration site family, member 3 Wnt family 360 1989-05-30 2016-03-18 2021-05-26 7473 ENSG00000108379 OTTHUMG00000178076 uc002ikv.3 AY009397 NM_030753 CCDS11505 P56703 8244403 MGI:98955 RGD:3972 165330 120537 ligandId:3675 HGNC:12782 "ENST00000225512.6|NM_030753.5" HGNC:12782 +HGNC:15983 WNT3A Wnt family member 3A protein-coding gene gene with protein product Approved 1q42.13 01q42.13 wingless-type MMTV integration site family, member 3A Wnt family 360 2001-06-29 2016-03-18 2016-10-05 89780 ENSG00000154342 OTTHUMG00000037593 uc001hrq.3 AB060284 NM_033131 CCDS1564 P56704 11414706 MGI:98956 RGD:1308057 606359 310103 ligandId:3549 HGNC:15983 "ENST00000284523.2|NM_033131.4" +HGNC:12783 WNT4 Wnt family member 4 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 WNT-4 wingless-type MMTV integration site family, member 4 Wnt family 360 2000-07-31 2016-03-18 2021-05-26 54361 ENSG00000162552 OTTHUMG00000002894 uc001bfs.5 AL031281 NM_030761 CCDS223 P56705 8168088 MGI:98957 RGD:621348 603490 120540 ligandId:3547 HGNC:12783 "ENST00000290167.11|NM_030761.5" HGNC:12783 +HGNC:12784 WNT5A Wnt family member 5A protein-coding gene gene with protein product Approved 3p14.3 03p14.3 hWNT5A WNT-5A protein wingless-type MMTV integration site family, member 5A Wnt family 360 1993-07-06 2016-03-18 2021-05-26 7474 ENSG00000114251 OTTHUMG00000158361 uc062ktw.1 L20861 NM_003392 "CCDS46850|CCDS58835" P41221 8288227 MGI:98958 RGD:69250 164975 231387 ligandId:3548 HGNC:12784 "ENST00000264634.9|NM_003392.7" HGNC:12784 +HGNC:40616 WNT5A-AS1 WNT5A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p14.3 03p14.3 WNT5A antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100874008 ENSG00000244586 OTTHUMG00000158382 uc062kub.1 WNT5A-AS1 +HGNC:16265 WNT5B Wnt family member 5B protein-coding gene gene with protein product Approved 12p13.33 12p13.33 wingless-type MMTV integration site family, member 5B Wnt family 360 2001-07-18 2016-03-18 2016-10-05 81029 ENSG00000111186 OTTHUMG00000090375 uc009zdq.4 AB060966 NM_030775 CCDS8510 Q9H1J7 11445850 MGI:98959 RGD:628850 606361 ligandId:3676 HGNC:16265 "ENST00000397196.7|NM_032642.3" +HGNC:12785 WNT6 Wnt family member 6 protein-coding gene gene with protein product Approved 2q35 02q35 wingless-type MMTV integration site family, member 6 Wnt family 360 1998-07-10 2016-03-18 2016-03-18 7475 ENSG00000115596 OTTHUMG00000133082 uc002vjc.2 AF079522 NM_006522 CCDS2425 Q9Y6F9 "10343101|11350055" MGI:98960 RGD:1304559 604663 ligandId:3678 HGNC:12785 "ENST00000233948.4|NM_006522.4" +HGNC:12786 WNT7A Wnt family member 7A protein-coding gene gene with protein product Approved 3p25.1 03p25.1 Wnt-7a proto-oncogene Wnt7a protein wingless-type MMTV integration site family, member 7A Wnt family 360 1996-03-12 2016-03-18 2021-05-26 7476 ENSG00000154764 OTTHUMG00000129803 uc003bye.2 D83175 NM_004625 CCDS2616 O00755 "8893824|9161407" MGI:98961 RGD:69079 601570 120543 ligandId:3679 HGNC:12786 "ENST00000285018.5|NM_004625.4" HGNC:12786 +HGNC:12787 WNT7B Wnt family member 7B protein-coding gene gene with protein product Approved 22q13.31 22q13.31 wingless-type MMTV integration site family, member 7B Wnt family 360 1997-04-21 2016-03-18 2021-05-26 7477 ENSG00000188064 OTTHUMG00000154636 uc003bgo.4 AF416743 NM_058238 CCDS33667 P56706 "8168088|9284940|11562755" MGI:98962 RGD:1311441 601967 ligandId:3681 HGNC:12787 "ENST00000339464.9|NM_058238.3" HGNC:12787 +HGNC:12788 WNT8A Wnt family member 8A protein-coding gene gene with protein product Approved 5q31.2 05q31.2 WNT8D wingless-type MMTV integration site family, member 8A Wnt family 360 1995-11-01 2016-03-18 2016-10-05 7478 ENSG00000061492 OTTHUMG00000129196 uc003lcd.1 AB057725 NM_058244 "CCDS43368|CCDS75311" Q9H1J5 11408932 MGI:107924 RGD:1306312 606360 ligandId:3682 HGNC:12788 "ENST00000506684.6|NM_001300939.2" +HGNC:12789 WNT8B Wnt family member 8B protein-coding gene gene with protein product Approved 10q24.31 10q24.31 wingless-type MMTV integration site family, member 8B Wnt family 360 1995-11-01 2016-03-18 2016-10-05 7479 ENSG00000075290 OTTHUMG00000018912 uc001krb.4 X91940 NM_003393 CCDS7494 Q93098 8661156 MGI:109485 RGD:1307644 601396 471338 ligandId:3683 HGNC:12789 "ENST00000343737.6|NM_003393.4" +HGNC:12778 WNT9A Wnt family member 9A protein-coding gene gene with protein product Approved 1q42.13 01q42.13 WNT14 "wingless-type MMTV integration site family, member 14|wingless-type MMTV integration site family, member 9A" "Wnt family|MicroRNA protein coding host genes" "360|1691" 1997-09-12 2003-03-14 2016-03-18 2016-10-05 7483 ENSG00000143816 OTTHUMG00000037592 uc001hri.3 AB060283 NM_003395 CCDS31045 O14904 9441749 MGI:2446084 RGD:1305018 602863 ligandId:3684 HGNC:12778 "ENST00000272164.6|NM_003395.4" +HGNC:12779 WNT9B Wnt family member 9B protein-coding gene gene with protein product Approved 17q21.32 17q21.32 WNT14B WNT15 "wingless-type MMTV integration site family, member 15|wingless-type MMTV integration site family, member 9B" Wnt family 360 1997-09-12 2003-03-14 2016-03-18 2016-03-18 7484 ENSG00000158955 OTTHUMG00000178077 uc002ikw.2 AF028703 NM_003396 "CCDS82147|CCDS11506" O14905 "9441749|11713592" MGI:1197020 RGD:1309574 602864 ligandId:3686 HGNC:12779 "ENST00000290015.7|NM_003396.3" +HGNC:13829 WNT10A Wnt family member 10A protein-coding gene gene with protein product Approved 2q35 02q35 wingless-type MMTV integration site family, member 10A Wnt family 360 2001-07-13 2016-03-18 2021-05-26 80326 ENSG00000135925 OTTHUMG00000133085 uc002vjd.2 AB059569 NM_025216 CCDS2426 Q9GZT5 "11350055|17847007" MGI:108071 RGD:1307015 606268 123345 ligandId:3687 HGNC:13829 "ENST00000258411.8|NM_025216.3" HGNC:13829 +HGNC:12775 WNT10B Wnt family member 10B protein-coding gene gene with protein product Approved 12q13.12 12q13.12 "WNT-12|SHFM6" wingless-type MMTV integration site family, member 10B Wnt family 360 1997-09-05 2016-03-18 2021-05-26 7480 ENSG00000169884 OTTHUMG00000150734 uc001rss.4 X97057 NM_003394 CCDS8775 O00744 "9121776|9284937|18515319" MGI:108061 RGD:1304988 601906 183933 ligandId:3688 HGNC:12775 "ENST00000301061.9|NM_003394.4" HGNC:12775 +HGNC:12776 WNT11 Wnt family member 11 protein-coding gene gene with protein product Approved 11q13.5 11q13.5 wingless-type MMTV integration site family, member 11 Wnt family 360 1998-08-06 2016-03-18 2016-03-18 7481 ENSG00000085741 OTTHUMG00000165264 uc001oxe.4 Y12692 NM_004626 CCDS8242 O96014 9757009 MGI:101948 RGD:621463 603699 ligandId:3689 HGNC:12776 "ENST00000322563.8|NM_004626.3" +HGNC:16267 WNT16 Wnt family member 16 protein-coding gene gene with protein product Approved 7q31.31 07q31.31 wingless-type MMTV integration site family, member 16 Wnt family 360 2001-07-20 2016-03-18 2016-10-05 51384 ENSG00000002745 OTTHUMG00000156963 uc003vjw.4 AF152584 NM_057168 "CCDS5780|CCDS5781" Q9UBV4 10500199 MGI:2136018 RGD:1562253 606267 ligandId:3690 HGNC:16267 "ENST00000222462.3|NM_057168.2" +HGNC:25522 WRAP53 WD repeat containing antisense to TP53 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "FLJ10385|TCAB1" "telomerase cajal body protein 1|WD-encoding RNA antisense to p53" WDR79 "WD repeat domain 79|WD repeat containing, antisense to TP53" WD repeat domain containing 362 2005-08-12 2009-02-16 2016-04-25 2021-04-13 55135 ENSG00000141499 OTTHUMG00000134323 uc010vuh.2 "AK001247|DQ431240" NM_018081 CCDS11119 Q9BUR4 "19179534|19250907|19571673|19342896|20494116|21441950" MGI:2384933 RGD:1359624 LRG_375|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_375.xml 612661 266162 HGNC:25522 "ENST00000396463.7|NM_001143992.2" HGNC:25522 +HGNC:12759 WRAP73 WD repeat containing, antisense to TP73 protein-coding gene gene with protein product Approved 1p36.32 01p36.32 WDR8 WD repeat domain 8 WD repeat domain containing 362 2000-03-15 2011-04-13 2011-04-13 2016-10-05 49856 ENSG00000116213 OTTHUMG00000000612 uc001ako.4 "AB034912|EF494669" NM_017818 CCDS48 Q9P2S5 MGI:1891749 RGD:1359137 606040 HGNC:12759 "ENST00000270708.12|NM_017818.4" +HGNC:12791 WRN WRN RecQ like helicase protein-coding gene gene with protein product Approved 8p12 08p12 "RECQL2|RECQ3" "Werner syndrome|Werner syndrome RecQ like helicase" "Exonucleases|RecQ like helicases" "544|1049" 1991-08-21 2019-04-15 2021-05-26 7486 ENSG00000165392 OTTHUMG00000163894 uc003xio.5 NM_000553 CCDS6082 Q14191 9288107 MGI:109635 RGD:1564788 "Database of WS-associated WRN mutations|http://www.pathology.washington.edu/werner/ws_wrn.html|LRG_524|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_524.xml" WRN 604611 120545 HGNC:12791 "ENST00000298139.7|NM_000553.6" HGNC:12791 +HGNC:20876 WRNIP1 WRN helicase interacting protein 1 protein-coding gene gene with protein product Approved 6p25.2 06p25.2 "WHIP|FLJ22526|bA420G6.2|FAP93|CFAP93" Werner helicase interacting protein 1 "AAA ATPases|Cilia and flagella associated" "413|1491" 2003-06-13 2019-04-11 2020-01-28 56897 ENSG00000124535 OTTHUMG00000014126 uc003mtz.4 AB056152 NM_130395 "CCDS4476|CCDS4475" Q96S55 11301316 MGI:1926153 RGD:628836 608196 HGNC:20876 "ENST00000380773.9|NM_020135.3" +HGNC:19221 WSB1 WD repeat and SOCS box containing 1 protein-coding gene gene with protein product Approved 17q11.1 17q11.1 "DKFZp564A122|DKFZp564B0482|SWIP1" WD repeat and SOCS box-containing 1 WD repeat domain containing 362 2004-02-20 2011-01-25 2016-10-05 26118 ENSG00000109046 OTTHUMG00000132293 uc002gzd.2 AF069313 NM_015626 "CCDS11221|CCDS11220" Q9Y6I7 "10354473|12076535" MGI:1926139 RGD:1307835 610091 HGNC:19221 "ENST00000262394.7|NM_015626.10" +HGNC:19222 WSB2 WD repeat and SOCS box containing 2 protein-coding gene gene with protein product Approved 12q24.23 12q24.23 "SBA2|MGC10210" WD repeat and SOCS box-containing 2 WD repeat domain containing 362 2004-02-20 2011-01-25 2014-11-18 55884 ENSG00000176871 OTTHUMG00000168885 uc001twr.4 AF038187 NM_018639 "CCDS61252|CCDS9186|CCDS61251" Q9NYS7 12076535 MGI:2144041 RGD:1359599 HGNC:19222 "ENST00000315436.8|NM_018639.5" +HGNC:29060 WSCD1 WSC domain containing 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 KIAA0523 2007-03-27 2015-07-22 23302 ENSG00000179314 OTTHUMG00000177794 uc010cli.4 NM_015253 CCDS32538 Q658N2 MGI:2448493 RGD:1308212 619584 HGNC:29060 "ENST00000317744.10|NM_015253.2" +HGNC:29117 WSCD2 WSC domain containing 2 protein-coding gene gene with protein product Approved 12q23.3 12q23.3 KIAA0789 2007-03-27 2015-07-22 9671 ENSG00000075035 OTTHUMG00000169579 uc001tms.4 NM_014653 CCDS41828 Q2TBF2 MGI:2445030 RGD:1589744 619253 HGNC:29117 "ENST00000547525.6|NM_014653.4" +HGNC:51639 WSPAR WNT signaling pathway activating non-coding RNA non-coding RNA RNA, long non-coding Approved 5q31.1 05q31.1 "TCONS_00009511-XLOC_004555|lncTCF7" Long non-coding RNAs with non-systematic symbols 1992 2015-04-09 2017-01-06 105664404 ENSG00000249073 OTTHUMG00000163048 BE270324 NR_131252 "25842979|27766570" 616333 WSPAR HGNC:51639 +HGNC:12796 WT1 WT1 transcription factor protein-coding gene gene with protein product Approved 11p13 11p13 "WAGR|WIT-2|AWT1|NPHS4|WT-1" GUD Wilms tumor 1 Zinc fingers C2H2-type 28 1989-04-13 2019-02-15 2021-10-18 7490 ENSG00000184937 OTTHUMG00000039556 uc001mtn.4 NM_000378 "CCDS55751|CCDS55750" P19544 "14681303|9810227" MGI:98968 RGD:3974 LRG_525|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_525.xml WT1 607102 120549 HGNC:12796 "ENST00000452863.10|NM_024426.6" HGNC:12796 +HGNC:18135 WT1-AS WT1 antisense RNA non-coding RNA RNA, long non-coding Approved 11p13 11p13 "WIT-1|WT1AS|WT1-AS1" Wilms tumor associated protein WIT1 "Wilms tumor upstream neighbor 1|WT1 antisense RNA (non-protein coding)" Antisense RNAs 1987 2005-10-28 2012-01-25 2012-08-15 2018-08-15 51352 ENSG00000183242 OTTHUMG00000039557 uc058adn.1 BC002734 NR_023920 Q06250 "2173145|8406502|17210670" MGI:2138884 607899 wt1-as WT1-AS HGNC:18135 +HGNC:16846 WTAP WT1 associated protein protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "KIAA0105|MGC3925|Mum2" Wilms tumor 1 associated protein "m6A methyltransferase complex|WTAP complex" "1419|1420" 2003-05-19 2017-02-28 2017-02-28 9589 ENSG00000146457 OTTHUMG00000015933 uc003qsl.6 AJ276706 NM_152857 "CCDS5267|CCDS75542|CCDS5266" Q15007 "7788527|11001926|24407421" MGI:1926395 RGD:1563824 605442 HGNC:16846 "ENST00000621533.5|NM_001270531.2" +HGNC:44115 WTAPP1 Wilms tumor 1 associated protein pseudogene 1 pseudogene pseudogene Approved 11q22.2 11q22.2 2012-06-23 2020-06-03 100288077 ENSG00000255282 OTTHUMG00000165847 NR_038390 32473628 HGNC:44115 +HGNC:20964 WTIP WT1 interacting protein protein-coding gene gene with protein product Approved 19q13.11 19q13.11 WT1-interacting protein Wilms tumor 1 interacting protein Ajuba family 1403 2005-02-11 2017-02-28 2018-11-22 126374 ENSG00000142279 OTTHUMG00000182099 uc002nvm.4 AK130059 NM_001080436 CCDS59375 A6NIX2 14736876 MGI:2141920 RGD:1306411 614790 HGNC:20964 "ENST00000590071.7|NM_001080436.2" +HGNC:29435 WWC1 WW and C2 domain containing 1 protein-coding gene gene with protein product Approved 5q34 05q34 "KIBRA|KIAA0869|PPP1R168" protein phosphatase 1, regulatory subunit 168 WW, C2 and coiled-coil domain containing 1 "WWC family|Protein phosphatase 1 regulatory subunits|C2 and WW domain containing" "158|694|838" 2006-02-22 2006-11-09 2014-11-19 23286 ENSG00000113645 OTTHUMG00000130408 uc003lzu.4 AF506799 NM_015238 "CCDS4366|CCDS54945" Q8IX03 "10048485|12559952" MGI:2388637 RGD:1308329 610533 HGNC:29435 "ENST00000265293.9|NM_015238.3" +HGNC:24148 WWC2 WW and C2 domain containing 2 protein-coding gene gene with protein product Approved 4q35.1 04q35.1 "BOMB|FLJ22029" WW, C2 and coiled-coil domain containing 2 "WWC family|C2 and WW domain containing" "158|838" 2006-02-22 2006-11-09 2019-03-21 80014 ENSG00000151718 OTTHUMG00000150685 uc010irx.4 BC017957 NM_024949 CCDS34109 Q6AWC2 24682284 MGI:1261872 RGD:1559427 HGNC:24148 "ENST00000403733.8|NM_024949.6" +HGNC:41041 WWC2-AS1 WWC2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 WWC2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-02 2012-08-15 2019-07-11 101928734 ENSG00000251128 OTTHUMG00000160679 uc003ivm.3 NR_126473 31262262 WWC2-AS1 HGNC:41041 +HGNC:26390 WWC2-AS2 WWC2 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 4q35.1 04q35.1 FLJ30277 C4orf38 "chromosome 4 open reading frame 38|WWC2 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2007-07-10 2012-03-02 2012-08-15 2014-11-19 152641 ENSG00000251359 OTTHUMG00000160677 uc003ivj.2 AK054839 NR_024008 Q96NR7 WWC2-AS2 HGNC:26390 +HGNC:29237 WWC3 WWC family member 3 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "KIAA1280|BM042" WWC family 158 2006-02-22 2020-04-02 55841 ENSG00000047644 OTTHUMG00000021123 uc064xyg.1 AK091936 NM_015691 CCDS14136 Q9ULE0 10574462 RGD:1560666 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/WWC3 HGNC:29237 +HGNC:41236 WWC3-AS1 WWC3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.2 Xp22.2 WWC3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2014-11-19 100873953 ENSG00000225076 OTTHUMG00000021122 uc064xyi.1 WWC3-AS1 +HGNC:12799 WWOX WW domain containing oxidoreductase protein-coding gene gene with protein product Approved 16q23.1-q23.2 16q23.1-q23.2 "FOR|WOX1|SDR41C1" short chain dehydrogenase/reductase family 41C, member 1 WW domain-containing oxidoreductase Short chain dehydrogenase/reductase superfamily 743 2000-07-31 2002-01-14 2021-05-26 51741 ENSG00000186153 OTTHUMG00000176851 uc002ffk.4 AF187015 NM_001291997 "CCDS42196|CCDS42197" Q9NZC7 "10786676|10861292|19027726" MGI:1931237 RGD:1309927 605131 120554 1.1.1.- HGNC:12799 "ENST00000566780.6|NM_016373.4" HGNC:12799 +HGNC:53169 WWOX-AS1 WWOX antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q23.1 16q23.1 RP11-190D6.2 Antisense RNAs 1987 2017-03-15 2018-06-08 102724047 ENSG00000260969 OTTHUMG00000176958 XR_429776 "28280357|29845204" HGNC:53169 +HGNC:17004 WWP1 WW domain containing E3 ubiquitin protein ligase 1 protein-coding gene gene with protein product Approved 8q21.3 08q21.3 "AIP5|DKFZP434D2111" "C2 and WW domain containing|HECT domain containing" "838|1959" 2004-07-07 2014-11-19 11059 ENSG00000123124 OTTHUMG00000163690 uc003ydt.4 AY043361 NM_007013 CCDS6242 Q9H0M0 "9169421|9647693" MGI:1861728 RGD:1311734 602307 HGNC:17004 "ENST00000517970.6|NM_007013.4" +HGNC:55520 WWP1-AS1 WWP1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q21.3 08q21.3 Antisense RNAs 1987 2021-03-18 2021-03-18 105375624 ENSG00000254231 XR_001745987 +HGNC:48944 WWP1P1 WW domain containing E3 ubiquitin protein ligase 1 pseudogene 1 pseudogene pseudogene Approved 3q12.1 03q12.1 2013-07-22 2016-08-16 339843 ENSG00000244153 OTTHUMG00000159795 NG_022259 PGOHUM00000299513 HGNC:48944 +HGNC:16804 WWP2 WW domain containing E3 ubiquitin protein ligase 2 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 AIP2 atrophin-1-interacting protein 2 "C2 and WW domain containing|MicroRNA protein coding host genes|HECT domain containing" "838|1691|1959" 2004-07-07 2021-10-27 11060 ENSG00000198373 OTTHUMG00000137573 uc002exv.3 BC013645 NM_007014 "CCDS58475|CCDS10885|CCDS58476|CCDS58477" O00308 "9169421|12167593" MGI:1914144 RGD:1310091 602308 HGNC:16804 "ENST00000359154.7|NM_001270454.2" +HGNC:24042 WWTR1 WW domain containing transcription regulator 1 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 "TAZ|DKFZp586I1419" transcriptional coactivator with PDZ-binding motif 2004-12-03 2020-09-03 25937 ENSG00000018408 OTTHUMG00000159614 uc003exh.4 AK022036 NM_015472 CCDS3144 Q9GZV5 "11118213|15096513" MGI:1917649 RGD:1559609 WWTR1 607392 431102 HGNC:24042 "ENST00000360632.8|NM_015472.6" +HGNC:41035 WWTR1-AS1 WWTR1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 WWTR1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2019-07-12 100128025 ENSG00000241313 OTTHUMG00000159618 uc003exi.3 NR_040250 31172583 WWTR1-AS1 HGNC:41035 +HGNC:41469 WWTR1-IT1 WWTR1 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 3q25.1 03q25.1 WWTR1 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 106478977 ENSG00000241985 OTTHUMG00000159620 uc062oxk.1 NR_174973 WWTR1-IT1 +HGNC:14089 XAB2 XPA binding protein 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HCNP|HCRN|SYF1|NTC90" "SYF1 homolog, RNA splicing factor (S. cerevisiae)|SYF1 pre-mRNA-splicing factor" "Nucleotide excision repair|Spliceosomal B complex|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1269|1507|1508|1510|1516" 2003-10-14 2020-04-01 56949 ENSG00000076924 OTTHUMG00000182404 uc002mgx.4 AB026111 NM_020196 CCDS32892 Q9HCS7 10944529 MGI:1914689 RGD:621217 610850 HGNC:14089 "ENST00000358368.5|NM_020196.3" +HGNC:45056 XACT X active specific transcript non-coding RNA RNA, long non-coding Approved Xq23 Xq23 X active coating transcript X active specific transcript (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-02-04 2018-05-16 2018-05-16 105463123 ENSG00000241743 OTTHUMG00000022220 uc065atz.1 BQ010753 NR_131204 "23334669|25921272" 300901 xact XACT HGNC:45056 +HGNC:30932 XAF1 XIAP associated factor 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "BIRC4BP|XIAPAF1|HSXIAPAF1" 2008-03-04 2017-05-22 54739 ENSG00000132530 OTTHUMG00000177908 uc002gdn.4 X99699 NM_017523 "CCDS11081|CCDS11080" Q6GPH4 "12029096|11175744" MGI:3772572 RGD:1585988 606717 HGNC:30932 "ENST00000361842.8|NM_017523.5" +HGNC:4111 XAGE1A X antigen family member 1A protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "XAGE-1|CT12.1a" cancer/testis antigen family 12, member 1a "GAGED2|XAGE1" "G antigen, family D, 2|X antigen family, member 1|X antigen family, member 1A" XAGE family 1844 1999-04-15 2008-05-19 2015-11-18 2021-07-23 653220 ENSG00000204379 OTTHUMG00000021557 uc004dqf.4 NM_001097594 "CCDS75983|CCDS75982" Q9HD64 10197611 300742 HGNC:4111 "ENST00000375602.2|NM_001097594.3" +HGNC:25400 XAGE1B X antigen family member 1B protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "CT12.1b|CT12.1c|CT12.1d" cancer/testis antigen family 12, member 1b "XAGE1C|XAGE1D|XAGE1E" "X antigen family, member 1B|X antigen family member 1C|X antigen family, member 1C|X antigen family member 1D|X antigen family, member 1D|X antigen family member 1E|X antigen family, member 1E" XAGE family 1844 2006-06-30 2015-11-18 2020-04-21 653067 ENSG00000204382 OTTHUMG00000163577 uc064zig.1 NM_001097604 "CCDS48126|CCDS48128" Q9HD64 300289 HGNC:25400 "ENST00000375616.6|NM_001097604.3" +HGNC:4112 XAGE2 X antigen family member 2 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "XAGE-2|CT12.2" cancer/testis antigen family 12, member 2 "GAGED3|XAGE2B" "G antigen, family D, 3|X antigen family, member 2B|X antigen family, member 2" XAGE family 1844 1999-04-15 2005-01-27 2015-11-18 2015-11-18 9502 ENSG00000155622 OTTHUMG00000021549 uc004dqe.4 NM_130777 CCDS59525 Q96GT9 10197611 300416 HGNC:4112 "ENST00000286049.3|NM_130777.3" +HGNC:14618 XAGE3 X antigen family member 3 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "XAGE-3|pp9012|CT12.3a|CT12.3b" "cancer/testis antigen family 12, member 3a|cancer/testis antigen family 12, member 3b" "PLAC6|GAGED4" "placenta-specific 6; G antigen, family D, 4|X antigen family, member 3" XAGE family 1844 2002-04-03 2005-01-27 2015-11-18 2015-11-18 170626 ENSG00000171402 OTTHUMG00000021587 uc004drf.4 BG354572 NM_133179 CCDS14347 Q8WTP9 300740 HGNC:14618 "ENST00000346279.4|NM_133179.3" +HGNC:30930 XAGE5 X antigen family member 5 protein-coding gene gene with protein product Approved Xp11.22 Xp11.22 "XAGE-5|CT12.5" cancer/testis antigen family 12, member 5 GAGED5 "G antigen, family D, 5|X antigen family, member 5" XAGE family 1844 2004-08-16 2005-01-27 2015-11-18 2016-10-05 170627 ENSG00000171405 OTTHUMG00000021589 uc064zio.1 BC069129 NM_130775 CCDS14346 Q8WWM1 12477932 HGNC:30930 "ENST00000375501.2|NM_001386970.1" +HGNC:12801 XBP1 X-box binding protein 1 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 XBP2 Basic leucine zipper proteins 506 1992-02-13 2015-08-26 7494 ENSG00000100219 OTTHUMG00000151094 uc062cvg.1 M31627 NM_005080 CCDS13847 P17861 "1718857|2196176" MGI:98970 RGD:1303073 194355 HGNC:12801 +HGNC:12802 XBP1P1 X-box binding protein 1 pseudogene 1 pseudogene pseudogene Approved 5q22.2 05q22.2 "XBP1|XBPP1" X-box binding protein pseudogene 1 1991-07-11 2009-12-02 2009-12-02 2014-11-19 7495 ENSG00000249947 OTTHUMG00000162854 NG_003037 1718857 PGOHUM00000235731 HGNC:12802 +HGNC:12804 XCE X chromosome controlling element other region Approved Xq13 Xq13 1988-04-26 2019-07-04 7497 "5480753|8118102" 300074 +HGNC:10645 XCL1 X-C motif chemokine ligand 1 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 "LPTN|ATAC|SCM-1a|SCM-1" lymphotactin "LTN|SCYC1" "small inducible cytokine subfamily C, member 1 (lymphotactin)|chemokine (C motif) ligand 1" Chemokine ligands 483 1996-03-19 2002-08-23 2016-03-02 2016-03-02 6375 ENSG00000143184 OTTHUMG00000034548 uc001gfo.2 D43768 NM_002995 CCDS1274 P47992 "7602097|7875320" MGI:104593 RGD:620452 600250 ligandId:3647 HGNC:10645 "ENST00000367818.4|NM_002995.3" +HGNC:10646 XCL2 X-C motif chemokine ligand 2 protein-coding gene gene with protein product Approved 1q24.2 01q24.2 SCM-1b SCYC2 "small inducible cytokine subfamily C, member 2|chemokine (C motif) ligand 2" Chemokine ligands 483 1997-02-19 2002-08-23 2016-03-02 2016-03-02 6846 ENSG00000143185 OTTHUMG00000034549 uc001gfn.4 BC070309 NM_003175 CCDS1273 Q9UBD3 7875320 MGI:104593 604828 ligandId:4370 HGNC:10646 "ENST00000367819.3|NM_003175.4" +HGNC:1625 XCR1 X-C motif chemokine receptor 1 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "GPR5|CCXCR1" "chemokine (C motif) XC receptor 1|chemokine (C motif) receptor 1" X-C motif chemokine receptors 1092 1994-07-25 2002-08-23 2016-03-14 2016-10-05 2829 ENSG00000173578 OTTHUMG00000133449 uc003cpd.2 NM_001024644 CCDS2736 P46094 "7832990|10400311" MGI:1346338 RGD:1311480 600552 objectId:75 HGNC:1625 "ENST00000309285.4|NM_001024644.2" +HGNC:12805 XDH xanthine dehydrogenase protein-coding gene gene with protein product Approved 2p23.1 02p23.1 "XOR|XO" xanthene dehydrogenase 1994-04-08 2003-03-20 2021-05-26 7498 ENSG00000158125 OTTHUMG00000099385 uc002rnv.2 D11456 NM_000379 CCDS1775 P47989 8224915 MGI:98973 RGD:62043 607633 120558 objectId:2646 1.17.1.4 HGNC:12805 "ENST00000379416.4|NM_000379.4" HGNC:12805 +HGNC:12806 XG Xg glycoprotein (Xg blood group) protein-coding gene gene with protein product Approved Xp22.33 Xp22.33 PBDX "Xg blood group (pseudoautosomal boundary-divided on the X chromosome)|Xg blood group" "Blood group antigens|Pseudoautosomal region 1" "454|715" 2001-06-22 2018-04-23 2021-04-13 7499 ENSG00000124343 OTTHUMG00000021075 uc011mhg.4 AF380356 NM_175569 "CCDS48073|CCDS14120" P55808 8054981 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/XG|LRG_805|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_805.xml" 300879 HGNC:12806 "ENST00000644266.2|NM_001141919.2" +HGNC:12807 XGY1 XG pseudogene, Y-linked 1 pseudogene pseudogene Approved Yq11.221 Yq11.221 XGPY1 XGPY Xg pseudogene (Y-linked) 1995-12-20 2014-05-07 2018-04-23 2018-04-23 7500 ENSG00000227447 OTTHUMG00000036465 NG_005784 7633446 PGOHUM00000233746 HGNC:12807 +HGNC:34022 XGY2 XG pseudogene, Y-linked 2 pseudogene pseudogene Approved Yp11.2 Yp11.2 XGPY2 2008-03-14 2014-05-07 2018-04-23 2020-04-20 100132596 ENSG00000288686 Z48510 NR_003254 HGNC:34022 +HGNC:592 XIAP X-linked inhibitor of apoptosis protein-coding gene gene with protein product Approved Xq25 Xq25 "hILP|ILP-1" IAP-like protein 1 "API3|BIRC4" "baculoviral IAP repeat-containing 4|X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase" "Ring finger proteins|Baculoviral IAP repeat containing" "58|419" 1998-06-10 2008-03-04 2015-12-11 2021-05-26 331 ENSG00000101966 OTTHUMG00000022336 uc010nqu.4 U45880 NM_001167 CCDS14606 P98170 "8552191|8654366|15749826" MGI:107572 RGD:620692 "BIRC4base: Mutation registry for X-linked lymphoproliferative syndrome|http://structure.bmc.lu.se/idbase/BIRC4base/|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/XIAP|LRG_19|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_19.xml" 300079 138732 objectId:2790 HGNC:592 "ENST00000371199.8|NM_001167.4" HGNC:592 +HGNC:40078 XIAP-AS1 XIAP antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xq25 Xq25 XIAP antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-28 2012-08-15 2014-11-19 106480735 ENSG00000237331 OTTHUMG00000022339 uc065azu.1 XIAP-AS1 +HGNC:52375 XIAPP1 X-linked inhibitor of apoptosis pseudogene 1 pseudogene pseudogene Approved 10q25.1 10q25.1 2016-08-19 2016-08-19 100996851 ENSG00000270294 OTTHUMG00000184641 PGOHUM00000290278 HGNC:52375 +HGNC:52376 XIAPP2 X-linked inhibitor of apoptosis pseudogene 2 pseudogene pseudogene Approved 11q14.2 11q14.2 2016-08-19 2016-08-19 100420509 ENSG00000254843 OTTHUMG00000167235 NG_024396 PGOHUM00000290621 HGNC:52376 +HGNC:52377 XIAPP3 X-linked inhibitor of apoptosis pseudogene 3 pseudogene pseudogene Approved 2q14.1 02q14.1 2016-08-19 2016-08-19 100128413 ENSG00000180152 OTTHUMG00000153319 NG_021579 PGOHUM00000298646 HGNC:52377 +HGNC:12809 XIC X chromosome inactivation center other region Approved Xq12-q13 Xq12-q13 X-inactivation center 1989-06-02 2019-10-10 7502 "6198418|1985270|12045143" +HGNC:14301 XIRP1 xin actin binding repeat containing 1 protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "DKFZp451D042|Xin" CMYA1 cardiomyopathy associated 1 2002-04-03 2007-06-27 2015-04-29 2018-11-22 165904 ENSG00000168334 OTTHUMG00000131297 uc003cjk.3 AW755250 NM_194293 "CCDS87065|CCDS2683|CCDS56245" Q702N8 "12203715|15454575" MGI:1333878 RGD:1304776 609777 HGNC:14301 "ENST00000340369.4|NM_194293.4" +HGNC:14303 XIRP2 xin actin binding repeat containing 2 protein-coding gene gene with protein product Approved 2q24.3 02q24.3 myomaxin CMYA3 cardiomyopathy associated 3 LIM domain containing 1218 2002-04-03 2007-06-27 2015-04-29 2016-10-05 129446 ENSG00000163092 OTTHUMG00000154027 uc002udx.4 AK056582 NM_152381 "CCDS56145|CCDS56143|CCDS42768|CCDS42769|CCDS56144" A4UGR9 "17046827|12203715|15454575" MGI:2685198 RGD:1302980 609778 HGNC:14303 "ENST00000409195.6|NM_152381.6" +HGNC:40679 XIRP2-AS1 XIRP2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q24.3 02q24.3 XIRP2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-18 2012-08-15 2019-08-16 100874011 ENSG00000254552 OTTHUMG00000165270 uc032oir.2 NR_046665 31410022 XIRP2-AS1 HGNC:40679 +HGNC:12810 XIST X inactive specific transcript non-coding RNA RNA, long non-coding Approved Xq13.2 Xq13.2 "NCRNA00001|DXS1089|swd66|LINC00001" long intergenic non-protein coding RNA 1 DXS399E "X (inactive)-specific transcript|X (inactive)-specific transcript (non-protein coding)|X inactive specific transcript (non-protein coding)" Long non-coding RNAs with non-systematic symbols 1992 1991-02-04 2018-05-16 2018-12-17 7503 ENSG00000229807 OTTHUMG00000021839 uc004ebm.3 M97168 NR_001564 "1985261|2034279|16778056" MGI:98974 314670 xist XIST HGNC:12810 +HGNC:12811 XK X-linked Kx blood group protein-coding gene gene with protein product Approved Xp21.1 Xp21.1 "XKR1|Kx|X1k" "Kx antigen|McLeod syndrome" "NA|NAC" "Kell blood group precursor (McLeod phenotype)|XK, Kell blood group complex subunit (McLeod syndrome)|neuroacanthocytosis|neurocanthocytosis" "Blood group antigens|XK related family" "454|955" 2001-06-22 2014-06-18 2021-04-13 7504 ENSG00000047597 OTTHUMG00000033171 uc004ddq.4 Z32684 NM_021083 CCDS14241 P51811 "8004674|11761473" MGI:103569 RGD:1359650 "Blood Group Antigen Mutation Database|http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.fcgi?cmd=bgmut/home|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/XK|LRG_812|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_812.xml" 314850 120562 HGNC:12811 "ENST00000378616.5|NM_021083.4" HGNC:12811 +HGNC:28778 XKR3 XK related 3 protein-coding gene gene with protein product Approved 22q11.1 22q11.1 "MGC57211|XTES" "X Kell blood group precursor-related family, member 3|XK, Kell blood group complex subunit-related family, member 3" XK related family 955 2005-07-28 2016-02-10 2016-02-10 150165 ENSG00000172967 OTTHUMG00000143726 uc002zlv.4 AY989815 NM_175878 CCDS42975 Q5GH77 16431037 611674 HGNC:28778 "ENST00000684488.1|NM_001386955.1" +HGNC:29394 XKR4 XK related 4 protein-coding gene gene with protein product Approved 8q12.1 08q12.1 KIAA1889 "X Kell blood group precursor-related family, member 4|XK, Kell blood group complex subunit-related family, member 4" XK related family 955 2005-07-28 2016-02-10 2016-02-10 114786 ENSG00000206579 OTTHUMG00000164288 uc003xsf.4 AY534241 NM_052898 CCDS34893 Q5GH76 MGI:3528744 RGD:1549780 HGNC:29394 "ENST00000327381.7|NM_052898.2" +HGNC:56156 XKR4-AS1 XKR4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Antisense RNAs 1987 2022-01-13 2022-01-13 105375843 NR_134323 +HGNC:20782 XKR5 XK related 5 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "X Kell blood group precursor-related family, member 5|XK, Kell blood group complex subunit-related family, member 5" XK related family 955 2005-07-28 2016-02-10 2016-02-10 389610 ENSG00000275591 OTTHUMG00000153652 uc033baq.2 AY358489 NM_207411 CCDS47763 Q6UX68 MGI:2442327 RGD:1359335 HGNC:20782 "ENST00000618742.3|NM_207411.5" +HGNC:27806 XKR6 XK related 6 protein-coding gene gene with protein product Approved 8p23.1 08p23.1 "C8orf7|C8orf21|C8orf5" "chromosome 8 open reading frame 7|chromosome 8 open reading frame 21|X Kell blood group precursor-related family, member 6|chromosome 8 open reading frame 5|XK, Kell blood group complex subunit-related family, member 6" "XK related family|MicroRNA protein coding host genes" "955|1691" 2004-06-11 2005-07-28 2016-02-10 2016-02-10 286046 ENSG00000171044 OTTHUMG00000129351 uc003wtk.3 BC024146 NM_173683 CCDS5978 Q5GH73 MGI:2447765 RGD:1310719 HGNC:27806 "ENST00000416569.3|NM_173683.4" +HGNC:23062 XKR7 XK related 7 protein-coding gene gene with protein product Approved 20q11.21 20q11.21 dJ310O13.4 C20orf159 "X Kell blood group precursor-related family, member 7|chromosome 20 open reading frame 159|XK, Kell blood group complex subunit-related family, member 7" XK related family 955 2005-07-28 2016-02-10 2016-02-10 343702 ENSG00000260903 OTTHUMG00000032198 uc002wxe.4 AY534245 NM_001011718 CCDS33459 Q5GH72 MGI:3526711 RGD:1359224 HGNC:23062 "ENST00000562532.3|NM_001011718.2" +HGNC:25508 XKR8 XK related 8 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 FLJ10307 "X Kell blood group precursor-related family, member 8|XK, Kell blood group complex subunit-related family, member 8" XK related family 955 2005-07-28 2016-02-10 2016-02-10 55113 ENSG00000158156 OTTHUMG00000003912 uc001bph.2 AK091615 NM_018053 CCDS315 Q9H6D3 23845944 MGI:2685877 RGD:1305649 HGNC:25508 "ENST00000373884.6|NM_018053.4" +HGNC:20937 XKR9 XK related 9 protein-coding gene gene with protein product Approved 8q13.3 08q13.3 "X Kell blood group precursor-related family, member 9|XK, Kell blood group complex subunit-related family, member 9" XK related family 955 2005-07-28 2016-02-10 2016-02-10 389668 ENSG00000221947 OTTHUMG00000164431 uc003xyq.3 AY534247 NM_001011720 CCDS34905 Q5GH70 MGI:2686466 RGD:1359260 HGNC:20937 "ENST00000408926.8|NM_001011720.2" +HGNC:29845 XKRX XK related X-linked protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 "XPLAC|XKR2" "X Kell blood group precursor-related, X-linked|XK, Kell blood group complex subunit-related, X-linked" XK related family 955 2004-06-17 2018-04-26 2020-04-02 402415 ENSG00000182489 OTTHUMG00000022010 uc004egn.3 AY589511 NM_212559 CCDS14476 Q6PP77 MGI:3584011 RGD:1359223 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/XKRX 300684 HGNC:29845 "ENST00000372956.3|NM_212559.3" +HGNC:18571 XKRY XK related, Y-linked other unknown Approved Yq11.222 Yq11.222 XKRY1 "X Kell blood group precursor-related, Y-linked|XK, Kell blood group complex subunit-related, Y-linked" XK related family 955 2002-05-22 2016-02-10 2019-06-28 9082 ENSG00000250868 OTTHUMG00000041664 AF000997 NM_004677 O14609 9381176 400015 HGNC:18571 +HGNC:23922 XKRY2 XK related, Y-linked 2 other unknown Approved Yq11.222 Yq11.222 XKRYP7 "X Kell blood group precursor-related, Y-linked pseudogene 7|X Kell blood group precursor-related, Y-linked 2|XK, Kell blood group complex subunit-related, Y-linked 2" XK related family 955 2004-04-30 2004-07-23 2016-02-10 2019-06-28 353515 ENSG00000244646 OTTHUMG00000041953 NM_001002906 A2RUG3 12815422 HGNC:23922 +HGNC:23908 XKRYP1 XK related, Y-linked pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 "X Kell blood group precursor-related, Y-linked pseudogene 1|XK, Kell blood group complex subunit-related, Y-linked pseudogene 1" 2004-02-05 2016-02-10 2016-10-05 379028 ENSG00000238067 OTTHUMG00000041984 NG_003094 12815422 PGOHUM00000233991 HGNC:23908 +HGNC:23909 XKRYP2 XK related, Y-linked pseudogene 2 pseudogene pseudogene Approved Yq11.222 Yq11.222 "X Kell blood group precursor-related, Y-linked pseudogene 2|XK, Kell blood group complex subunit-related, Y-linked pseudogene 2" 2004-02-05 2016-02-10 2016-02-10 379029 ENSG00000230904 OTTHUMG00000041961 NG_003095 12815422 PGOHUM00000233781 HGNC:23909 +HGNC:23910 XKRYP3 XK related, Y-linked pseudogene 3 pseudogene pseudogene Approved Yq11.223 Yq11.223 "X Kell blood group precursor-related, Y-linked pseudogene 3|XK, Kell blood group complex subunit-related, Y-linked pseudogene 3" 2004-02-05 2016-02-10 2016-02-10 379030 ENSG00000236620 OTTHUMG00000044981 NG_003096 12815422 PGOHUM00000233828 HGNC:23910 +HGNC:23911 XKRYP4 XK related, Y-linked pseudogene 4 pseudogene pseudogene Approved Yq11.23 Yq11.23 "X Kell blood group precursor-related, Y-linked pseudogene 4|XK, Kell blood group complex subunit-related, Y-linked pseudogene 4" 2004-02-05 2016-02-10 2016-10-05 379031 ENSG00000231026 OTTHUMG00000044982 NG_003097 12815422 PGOHUM00000233833 HGNC:23911 +HGNC:23912 XKRYP5 XK related, Y-linked pseudogene 5 pseudogene pseudogene Approved Yq11.23 Yq11.23 "X Kell blood group precursor-related, Y-linked pseudogene 5|XK, Kell blood group complex subunit-related, Y-linked pseudogene 5" 2004-02-05 2016-02-10 2016-10-05 379032 ENSG00000223406 OTTHUMG00000045259 NG_003098 12815422 PGOHUM00000234089 HGNC:23912 +HGNC:23913 XKRYP6 XK related, Y-linked pseudogene 6 pseudogene pseudogene Approved Yq11.23 Yq11.23 "X Kell blood group precursor-related, Y-linked pseudogene 6|XK, Kell blood group complex subunit-related, Y-linked pseudogene 6" 2004-02-05 2016-02-10 2016-02-10 379033 ENSG00000237546 OTTHUMG00000045267 NG_003099 12815422 PGOHUM00000234094 HGNC:23913 +HGNC:54662 XNDC1CP XRCC1 N-terminal domain containing 1, C-terminal like pseudogene pseudogene pseudogene Approved 11p15.4 11p15.4 2021-08-23 2021-08-23 115995503 ENSG00000289718 NR_164660 +HGNC:54661 XNDC1N XRCC1 N-terminal domain containing 1, N-terminal like protein-coding gene gene with protein product Approved 11q13.4 11q13.4 2021-08-23 2021-08-23 100133315 ENSG00000254469 OTTHUMG00000167535 NM_001375847 Q6ZNB5 +HGNC:55871 XNDC1N-ZNF705EP-ALG1L9P XNDC1N-ZNF705EP-ALG1L9P readthrough other readthrough Approved 11q13.4 11q13.4 2021-09-06 2021-09-06 122319435 ENSG00000289716 NR_172893 +HGNC:12814 XPA XPA, DNA damage recognition and repair factor protein-coding gene gene with protein product Approved 9q22.33 09q22.33 "XPAC|XP1" xeroderma pigmentosum, complementation group A Xeroderma pigmentosum complementation groups 1125 1990-09-10 2016-05-23 2021-05-26 7507 ENSG00000136936 OTTHUMG00000020330 uc004axr.5 D14533 NM_000380 CCDS6729 P23025 MGI:99135 RGD:1308769 LRG_471|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_471.xml XPA 611153 120567 HGNC:12814 "ENST00000375128.5|NM_000380.4" HGNC:12814 +HGNC:12816 XPC XPC complex subunit, DNA damage recognition and repair factor protein-coding gene gene with protein product Approved 3p25.1 03p25.1 "XPCC|RAD4" xeroderma pigmentosum group C protein xeroderma pigmentosum, complementation group C Xeroderma pigmentosum complementation groups 1125 1992-10-05 2016-05-23 2021-05-26 7508 ENSG00000154767 OTTHUMG00000155526 uc011ave.3 NM_004628 CCDS46763 Q01831 1522891 MGI:103557 RGD:1305760 LRG_472|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_472.xml XPC 613208 120571 HGNC:12816 "ENST00000285021.12|NM_004628.5" HGNC:12816 +HGNC:55014 XPC-AS1 XPC antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p25.1 03p25.1 Antisense RNAs 1987 2020-05-21 2020-05-21 107986063 ENSG00000228242 XR_001740603 +HGNC:12822 XPNPEP1 X-prolyl aminopeptidase 1 protein-coding gene gene with protein product Approved 10q25.1 10q25.1 Xaa-Pro aminopeptidase 1 "XPNPEP|XPNPEPL1|XPNPEPL" "X-prolyl aminopeptidase (aminopeptidase P)-like|X-prolyl aminopeptidase (aminopeptidase P) 1, soluble" "Aminopeptidases|M24 metallopeptidase family" "104|1442" 1993-04-15 2016-07-04 2016-10-05 7511 ENSG00000108039 OTTHUMG00000019029 uc001kyp.2 NM_001167604 "CCDS53576|CCDS7560|CCDS81498" Q9NQW7 "10871044|18515364" MGI:2180003 RGD:621274 602443 M24.009 objectId:1578 3.4.11.9 HGNC:12822 "ENST00000502935.6|NM_020383.4" +HGNC:12823 XPNPEP2 X-prolyl aminopeptidase 2 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound|Xaa-Pro aminopeptidase 2" "Aminopeptidases|M24 metallopeptidase family" "104|1442" 1998-02-18 2016-07-04 2020-04-02 7512 ENSG00000122121 OTTHUMG00000022373 uc004eut.2 U90724 NM_003399 CCDS14613 O43895 "9375790|9628831" MGI:2180001 RGD:621277 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/XPNPEP2 300145 281864 objectId:1579 3.4.11.9 HGNC:12823 "ENST00000371106.4|NM_003399.6" +HGNC:28052 XPNPEP3 X-prolyl aminopeptidase 3 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "APP3|NPHPL1|ICP55" Intermediate Cleaving Peptidase 55 "X-prolyl aminopeptidase (aminopeptidase P) 3, putative|X-prolyl aminopeptidase 3, mitochondrial" "Aminopeptidases|M24 metallopeptidase family" "104|1442" 2006-08-02 2016-07-04 2021-05-26 63929 ENSG00000196236 OTTHUMG00000151312 uc003azh.4 NM_022098 "CCDS14007|CCDS74869" Q9NQH7 "15708373|20179356|24116217|28476889" MGI:2445217 RGD:1589063 613553 227083 M24.026 objectId:1580 HGNC:28052 "ENST00000357137.9|NM_022098.4" HGNC:28052 +HGNC:12825 XPO1 exportin 1 protein-coding gene gene with protein product Approved 2p15 02p15 "CRM1|CRM-1|emb" chromosome region maintenance 1 homolog (yeast) "exportin 1 (CRM1, yeast, homolog)|exportin 1 (CRM1 homolog, yeast)" Exportins 547 1998-05-12 2014-02-19 2019-03-12 7514 ENSG00000082898 OTTHUMG00000152316 uc002sbj.4 Y08614 NM_003400 CCDS33205 O14980 "9205132|9368044" MGI:2144013 RGD:620517 XPO1 602559 471340 objectId:3014 HGNC:12825 "ENST00000401558.7|NM_003400.4" +HGNC:17796 XPO4 exportin 4 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "FLJ13046|KIAA1721" Exportins 547 2003-03-10 2016-10-05 64328 ENSG00000132953 OTTHUMG00000016528 uc001unq.5 AB051508 NM_022459 CCDS41872 Q9C0E2 "11214970|10944119" MGI:1888526 RGD:1312015 611449 HGNC:17796 "ENST00000255305.11|NM_022459.5" +HGNC:17675 XPO5 exportin 5 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 KIAA1291 Exportins 547 2003-03-10 2014-11-19 57510 ENSG00000124571 OTTHUMG00000014742 uc003ovp.3 AB033117 NM_020750 CCDS47430 Q9HAV4 "11777942|12426392" MGI:1913789 RGD:1311522 607845 HGNC:17675 "ENST00000265351.12|NM_020750.3" +HGNC:19733 XPO6 exportin 6 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "KIAA0370|FLJ22519" RANBP20 RAN binding protein 20 Exportins 547 2002-12-03 2003-03-14 2003-03-11 2020-04-01 23214 ENSG00000169180 OTTHUMG00000176782 uc002dpa.4 AY026388 NM_001270940 "CCDS42135|CCDS59266" Q96QU8 14592989 MGI:2429950 RGD:1311491 608411 HGNC:19733 "ENST00000304658.10|NM_015171.4" +HGNC:14108 XPO7 exportin 7 protein-coding gene gene with protein product Approved 8p21.3 08p21.3 "KIAA0745|EXP7" RANBP16 RAN binding protein 16 Exportins 547 2001-01-22 2003-03-14 2003-03-11 2021-11-15 23039 ENSG00000130227 OTTHUMG00000163789 uc003xaa.5 AF064729 NM_015024 CCDS47818 Q9UIA9 "11024021|15282546|29748336" MGI:1929705 RGD:1310928 606140 HGNC:14108 "ENST00000252512.14|NM_015024.5" HGNC:14108 +HGNC:12826 XPOT exportin for tRNA protein-coding gene gene with protein product Approved 12q14.2 12q14.2 XPO3 "exportin, tRNA (nuclear export receptor for tRNAs)|exportin, tRNA" Exportins 547 1999-09-28 2016-03-14 2016-10-05 11260 ENSG00000184575 OTTHUMG00000168794 uc001ssb.4 AF039022 NM_007235 CCDS31852 O43592 "9660920|9512417" MGI:1920442 RGD:1305562 603180 HGNC:12826 "ENST00000332707.10|NM_007235.6" +HGNC:16586 XPOTP1 exportin for tRNA pseudogene 1 pseudogene pseudogene Approved 20q11.22 20q11.22 "dJ785G19.1|XPO3P1" "exportin, tRNA (nuclear export receptor for tRNAs) pseudogene 1|exportin, tRNA pseudogene 1" 2001-09-17 2016-03-14 2016-07-22 170559 ENSG00000214185 OTTHUMG00000032292 AL035458 NG_001062 PGOHUM00000296978 HGNC:16586 +HGNC:12827 XPR1 xenotropic and polytropic retrovirus receptor 1 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 "SYG1|X3|SLC53A1" solute carrier family 53 (phosphate exporter), member 1 xenotropic and polytropic retrovirus receptor Solute carriers 752 1999-02-19 2010-04-23 2021-03-01 9213 ENSG00000143324 OTTHUMG00000035116 uc001goi.4 AF099082 NM_004736 "CCDS44284|CCDS1340" Q9UBH6 "9990033|23791524" MGI:97932 RGD:1306554 605237 431657 objectId:3021 HGNC:12827 "ENST00000367590.9|NM_004736.4" HGNC:12827 +HGNC:12828 XRCC1 X-ray repair cross complementing 1 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 RCC X-ray repair complementing defective repair in Chinese hamster cells 1 2001-06-22 2016-06-02 2021-04-13 7515 ENSG00000073050 OTTHUMG00000182699 uc002owt.3 M36089 NM_006297 CCDS12624 P18887 2247054 MGI:99137 RGD:619823 LRG_784|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_784.xml 194360 HGNC:12828 "ENST00000262887.10|NM_006297.3" HGNC:12828 +HGNC:12829 XRCC2 X-ray repair cross complementing 2 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 FANCU RAD51-like X-ray repair complementing defective repair in Chinese hamster cells 2 FA complementation groups 548 1995-02-07 2016-06-02 2021-04-13 7516 ENSG00000196584 OTTHUMG00000151470 uc003wld.4 Y08837 NM_005431 CCDS5933 O43543 "7607692|10422536|27208205" MGI:1927345 RGD:1564823 "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi|LRG_323|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_323.xml" 600375 299649 HGNC:12829 "ENST00000359321.2|NM_005431.2" HGNC:12829 +HGNC:12830 XRCC3 X-ray repair cross complementing 3 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 RAD51-like X-ray repair complementing defective repair in Chinese hamster cells 3 1995-08-11 2016-06-02 2018-08-14 7517 ENSG00000126215 OTTHUMG00000169228 uc001ynz.5 AF035586 NM_005432 CCDS9984 O43542 7603995 MGI:1921585 RGD:1306849 600675 HGNC:12830 "ENST00000555055.6|NM_005432.4" +HGNC:12831 XRCC4 X-ray repair cross complementing 4 protein-coding gene gene with protein product Approved 5q14.2 05q14.2 "X-ray repair, complementing defective, repair in Chinese hamster|DNA repair protein XRCC4" X-ray repair complementing defective repair in Chinese hamster cells 4 1990-10-16 2016-06-02 2016-06-02 7518 ENSG00000152422 OTTHUMG00000131319 uc003kie.4 AB017445 NM_022550 "CCDS4059|CCDS4058" Q13426 "1697445|7665175" MGI:1333799 RGD:1359573 194363 460650 HGNC:12831 "ENST00000396027.9|NM_003401.5" HGNC:12831 +HGNC:12833 XRCC5 X-ray repair cross complementing 5 protein-coding gene gene with protein product Approved 2q35 02q35 "KU80|KARP-1|Ku86|KUB2" Ku autoantigen, 80kDa X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD) 1992-01-22 2016-06-02 2016-06-02 7520 ENSG00000079246 OTTHUMG00000133059 uc002vfy.4 AF039597 NM_021141 CCDS2402 P13010 "9636207|9214634" MGI:104517 RGD:3976 194364 471342 3.6.4.- HGNC:12833 "ENST00000392132.7|NM_021141.4" +HGNC:4055 XRCC6 X-ray repair cross complementing 6 protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "D22S731|D22S671|KU70|ML8" Ku autoantigen, 70kDa G22P1 "thyroid autoantigen 70kD (Ku antigen)|thyroid autoantigen 70kDa (Ku antigen)|X-ray repair complementing defective repair in Chinese hamster cells 6" DNA helicases 1167 1988-05-11 2005-05-06 2016-06-02 2016-06-02 2547 ENSG00000196419 OTTHUMG00000151190 uc003bao.3 J04607 NM_001469 "CCDS14021|CCDS74871|CCDS74870" P12956 "9200330|9223317" MGI:95606 RGD:2643 152690 HGNC:4055 "ENST00000360079.8|NM_001469.5" HGNC:4055 +HGNC:45183 XRCC6P1 X-ray repair cross complementing 6 pseudogene 1 pseudogene pseudogene Approved 10q23.33 10q23.33 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 1 2013-03-04 2016-06-02 2016-06-02 387703 ENSG00000237417 OTTHUMG00000018770 NG_028753 PGOHUM00000238588 HGNC:45183 +HGNC:45184 XRCC6P2 X-ray repair cross complementing 6 pseudogene 2 pseudogene pseudogene Approved Xq28 Xq28 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 2 2013-03-04 2016-06-02 2016-06-02 389901 ENSG00000234825 OTTHUMG00000022637 PGOHUM00000241596 HGNC:45184 +HGNC:45185 XRCC6P3 X-ray repair cross complementing 6 pseudogene 3 pseudogene pseudogene Approved 1q41 01q41 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 3 2013-03-04 2016-06-02 2016-06-02 127086 ENSG00000230318 OTTHUMG00000037093 NG_022752 PGOHUM00000244427 HGNC:45185 +HGNC:45186 XRCC6P4 X-ray repair cross complementing 6 pseudogene 4 pseudogene pseudogene Approved 8q12.3 08q12.3 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 4 2013-03-04 2016-06-02 2016-06-02 100422546 ENSG00000253517 OTTHUMG00000164362 NG_026031 PGOHUM00000260407 HGNC:45186 +HGNC:45187 XRCC6P5 X-ray repair cross complementing 6 pseudogene 5 pseudogene pseudogene Approved Xq22.1 Xq22.1 X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 5 2013-03-04 2016-06-02 2016-06-02 442459 ENSG00000215070 OTTHUMG00000021996 NR_024608 PGOHUM00000263904 HGNC:45187 +HGNC:30654 XRN1 5'-3' exoribonuclease 1 protein-coding gene gene with protein product Approved 3q23 03q23 SEP1 2004-07-12 2014-11-18 54464 ENSG00000114127 OTTHUMG00000159251 uc003eus.4 AY137776 NM_019001 "CCDS63801|CCDS3123|CCDS75028" Q8IZH2 12515382 MGI:891964 RGD:1309713 607994 HGNC:30654 "ENST00000392981.7|NM_001282857.2" +HGNC:12836 XRN2 5'-3' exoribonuclease 2 protein-coding gene gene with protein product Approved 20p11.22 20p11.22 1999-08-19 2016-10-05 22803 ENSG00000088930 OTTHUMG00000032025 uc002wsf.2 AF064257 NM_012255 CCDS13144 Q9H0D6 10409438 MGI:894687 RGD:1310218 608851 3.1.13.- HGNC:12836 "ENST00000377191.5|NM_012255.5" +HGNC:18868 XRRA1 X-ray radiation resistance associated 1 protein-coding gene gene with protein product Approved 11q13.4 11q13.4 FLJ00225 2003-08-13 2015-08-26 143570 ENSG00000166435 OTTHUMG00000165515 uc009yub.4 AK074152 NM_182969 "CCDS58159|CCDS44680|CCDS58160" Q6P2D8 "12908878|17295261" MGI:2181647 RGD:1305502 609788 HGNC:18868 "ENST00000684022.1|NM_001378157.1" +HGNC:26639 XXYLT1 xyloside xylosyltransferase 1 protein-coding gene gene with protein product Approved 3q29 03q29 FLJ35155 C3orf21 chromosome 3 open reading frame 21 "Glycosyltransferase family 8|MicroRNA protein coding host genes" "436|1691" 2005-02-07 2011-10-19 2011-10-19 2017-11-23 152002 ENSG00000173950 OTTHUMG00000155915 uc003fum.5 AK075551 NM_152531 "CCDS43188|CCDS77874" Q8NBI6 22117070 MGI:2146443 RGD:1308154 614552 2.4.2.n3 HGNC:26639 "ENST00000310380.11|NM_152531.5" +HGNC:41153 XXYLT1-AS1 XXYLT1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q29 03q29 XXYLT1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2014-11-19 100874528 ENSG00000233303 OTTHUMG00000155917 uc032sny.1 BF509707 NR_104188 XXYLT1-AS1 HGNC:41153 +HGNC:41154 XXYLT1-AS2 XXYLT1 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q29 03q29 XXYLT1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2012-03-07 2012-08-15 2021-11-29 101410543 ENSG00000230266 OTTHUMG00000155916 uc031scz.2 "R83154|AW963078" NR_102710 32171981 XXYLT1-AS2 HGNC:41154 +HGNC:12839 XYLB xylulokinase protein-coding gene gene with protein product Approved 3p22.2 03p22.2 "FLJ10343|FLJ12539" "D-xylulokinase|xylulose kinase" xylulokinase homolog (H. influenzae) 1998-12-02 2016-06-30 2016-10-05 9942 ENSG00000093217 OTTHUMG00000131294 uc003cic.3 AB015046 NM_005108 "CCDS2678|CCDS87062" O75191 "23179721|9763671" MGI:2142985 RGD:1307372 604049 HGNC:12839 "ENST00000207870.8|NM_005108.4" +HGNC:15516 XYLT1 xylosyltransferase 1 protein-coding gene gene with protein product Approved 16p12.3 16p12.3 "XT-I|PXYLT1" protein xylosyltransferase 1 xylosyltransferase I Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 2001-04-06 2016-04-05 2021-05-26 64131 ENSG00000103489 OTTHUMG00000129975 uc002dfa.4 AJ277441 NM_022166 CCDS10569 Q86Y38 "11099377|23982343" MGI:2451073 RGD:620093 608124 376942 2.4.2.26 HGNC:15516 "ENST00000261381.7|NM_022166.4" HGNC:15516 +HGNC:15517 XYLT2 xylosyltransferase 2 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 "XT-II|PXYLT2" protein xylosyltransferase 2 xylosyltransferase II Glucosaminyl (N-acetyl) transferases/xylosyltransferases 441 2001-04-06 2016-04-05 2021-05-26 64132 ENSG00000015532 OTTHUMG00000162057 uc002iqo.5 AJ277442 NM_022167 CCDS11563 Q9H1B5 11099377 MGI:2444797 RGD:619765 608125 434703 2.4.2.26 HGNC:15517 "ENST00000017003.7|NM_022167.4" HGNC:15517 +HGNC:24857 YAE1 YAE1 maturation factor of ABCE1 protein-coding gene gene with protein product Approved 7p14.1 07p14.1 "GK003|CIAB2" "C7orf36|YAE1D1" "chromosome 7 open reading frame 36|Yae1 domain containing 1|YAE1, ABCE1 maturation factor" 2004-02-02 2018-05-17 2019-01-31 2019-01-31 57002 ENSG00000241127 OTTHUMG00000128689 uc003thc.5 AF226046 NM_020192 "CCDS64630|CCDS5459" Q9NRH1 26182403 MGI:1914258 RGD:1306613 HGNC:24857 "ENST00000223273.7|NM_020192.5" +HGNC:55820 YAE1-DT YAE1 divergent transcript non-coding RNA RNA, long non-coding Approved 7p14.1 07p14.1 Divergent transcripts 1990 2021-07-30 2021-07-30 105375240 ENSG00000227172 XR_927188 +HGNC:17363 YAF2 YY1 associated factor 2 protein-coding gene gene with protein product Approved 12q12 12q12 Zinc fingers RANBP2-type 89 2001-12-13 2015-07-14 10138 ENSG00000015153 OTTHUMG00000169380 uc001rmv.4 U72209 NM_001190977 "CCDS53780|CCDS53779|CCDS53778|CCDS31775" Q8IY57 9016636 MGI:1914307 RGD:1582851 607534 HGNC:17363 "ENST00000534854.7|NM_005748.6" +HGNC:49034 YAM1 YY1-associated myogenesis RNA 1 non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Yam-1 YY1-associated muscle lncRNA 1 YY1-associated myogenesis 1 (non-protein coding) Long non-coding RNAs with non-systematic symbols 1992 2013-08-16 2013-12-06 2019-09-18 107161157 23942234 yam-1 +HGNC:16262 YAP1 Yes1 associated transcriptional regulator protein-coding gene gene with protein product Approved 11q22.1 11q22.1 "YAP65|YAP-1" "Yes-associated protein 1, 65kDa|Yes associated protein 1" 2001-07-17 2019-12-18 2022-02-10 10413 ENSG00000137693 OTTHUMG00000167322 uc001pgt.3 NM_006106 "CCDS53700|CCDS73373|CCDS8314|CCDS73374|CCDS60945|CCDS60944|CCDS44716|CCDS53699" P46937 "7782338|18280240|10228168|25843714" MGI:103262 RGD:1306035 606608 395071 HGNC:16262 "ENST00000282441.10|NM_001130145.3" HGNC:16262 +HGNC:38016 YAP1P1 YAP1 pseudogene 1 pseudogene pseudogene Approved 6q24.3 06q24.3 Yes associated protein 1 pseudogene 1 2010-03-19 2021-04-12 2021-04-12 442266 ENSG00000220494 OTTHUMG00000015765 NG_022376 PGOHUM00000243810 HGNC:38016 +HGNC:38017 YAP1P2 YAP1 pseudogene 2 pseudogene pseudogene Approved Xq23 Xq23 Yes associated protein 1 pseudogene 2 2010-03-19 2021-04-12 2021-04-12 100419909 ENSG00000236080 OTTHUMG00000022228 NG_022692 PGOHUM00000241958 HGNC:38017 +HGNC:43890 YAP1P3 YAP1 pseudogene 3 pseudogene pseudogene Approved 6q22.32 06q22.32 Yes associated protein 1 pseudogene 3 2012-04-23 2021-04-12 2021-04-12 100419883 ENSG00000275953 NG_025861 PGOHUM00000243353 HGNC:43890 +HGNC:12840 YARS1 tyrosyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "YTS|YRS|tyrRS" tyrosine tRNA ligase 1, cytoplasmic YARS tyrosyl-tRNA synthetase Aminoacyl tRNA synthetases, Class I 131 1999-01-29 2019-07-15 2019-07-15 2021-05-26 8565 ENSG00000134684 OTTHUMG00000003933 uc001bvy.2 U89436 NM_003680 CCDS368 P54577 "8552597|9162081" MGI:2147627 RGD:1307616 LRG_273|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_273.xml 603623 139906 ligandId:3729 6.1.1.1 HGNC:12840 "ENST00000373477.9|NM_003680.4" HGNC:12840 +HGNC:24249 YARS2 tyrosyl-tRNA synthetase 2 protein-coding gene gene with protein product Approved 12p11.21 12p11.21 "FLJ13995|CGI-04|mt-TyrRS" tyrosine tRNA ligase 2, mitochondrial tyrosyl-tRNA synthetase 2, mitochondrial Aminoacyl tRNA synthetases, Class I 131 2005-06-28 2015-12-04 2021-05-26 51067 ENSG00000139131 OTTHUMG00000169454 uc001rli.4 AF132939 NM_015936 CCDS31770 Q9Y2Z4 "15779907|15840810" MGI:1917370 RGD:1311696 610957 240658 6.1.1.1 HGNC:24249 "ENST00000324868.13|NM_001040436.3" HGNC:24249 +HGNC:1299 YBEY ybeY metalloendoribonuclease protein-coding gene gene with protein product Approved 21q22.3 21q22.3 C21orf57 "chromosome 21 open reading frame 57|ybeY metallopeptidase (putative)" 2000-05-23 2010-12-08 2018-04-19 2020-09-17 54059 ENSG00000182362 OTTHUMG00000090632 uc002zix.4 AK294975 NM_058181 "CCDS82686|CCDS82687|CCDS33591|CCDS82685" P58557 28153719 MGI:2656825 RGD:1308722 617461 HGNC:1299 "ENST00000397701.9|NM_001314025.2" +HGNC:8014 YBX1 Y-box binding protein 1 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "YB-1|YB1|DBPB|NSEP-1|MDR-NF1|BP-8|CSDB|CSDA2" NSEP1 nuclease sensitive element binding protein 1 "Y-box binding proteins|U11/U12 di-snRNP|U11 small nuclear ribonucleoprotein" "106|1521|2045" 1993-10-20 2005-08-11 2015-11-19 2020-04-22 4904 ENSG00000065978 OTTHUMG00000007523 uc001chs.4 BC013838 NM_004559 CCDS470 P67809 "1891370|3174636|29478751" MGI:99146 RGD:61843 154030 HGNC:8014 "ENST00000321358.12|NM_004559.5" +HGNC:8015 YBX1P1 Y-box binding protein 1 pseudogene 1 pseudogene pseudogene Approved 14q23.3 14q23.3 PSDBPB1 NSEP1P nuclease sensitive element binding protein 1 pseudogene 2000-04-03 2005-08-11 2015-11-19 2016-10-05 50631 ENSG00000224861 OTTHUMG00000171177 L37516 NG_001276 2977358 HGNC:8015 +HGNC:22635 YBX1P2 Y-box binding protein 1 pseudogene 2 pseudogene pseudogene Approved 7q22.3 07q22.3 TCAG_1818537 2007-07-24 2015-11-19 2015-11-19 646531 ENSG00000231167 OTTHUMG00000157401 CR601484 NG_006863 PGOHUM00000250901 HGNC:22635 +HGNC:42424 YBX1P3 Y-box binding protein 1 pseudogene 3 pseudogene pseudogene Approved 3q13.31 03q13.31 2011-07-25 2015-11-19 2015-11-19 100861556 ENSG00000240002 OTTHUMG00000159369 NG_032054 PGOHUM00000238138 HGNC:42424 +HGNC:42425 YBX1P4 Y-box binding protein 1 pseudogene 4 pseudogene pseudogene Approved 7q36.1 07q36.1 2011-07-25 2015-11-19 2015-11-19 100131012 ENSG00000213188 OTTHUMG00000157256 NG_011685 PGOHUM00000233651 HGNC:42425 +HGNC:42426 YBX1P5 Y-box binding protein 1 pseudogene 5 pseudogene pseudogene Approved 5q13.2 05q13.2 2011-07-25 2015-11-19 2015-11-19 100861569 ENSG00000251108 OTTHUMG00000163415 NG_032056 HGNC:42426 +HGNC:42427 YBX1P6 Y-box binding protein 1 pseudogene 6 pseudogene pseudogene Approved 9q31.3 09q31.3 2011-07-25 2015-11-19 2015-11-19 402375 ENSG00000213539 OTTHUMG00000020474 NG_030460 PGOHUM00000236306 HGNC:42427 +HGNC:42428 YBX1P7 Y-box binding protein 1 pseudogene 7 pseudogene pseudogene Approved 2q21.2 02q21.2 2011-07-25 2015-11-19 2015-11-19 100861431 ENSG00000232349 OTTHUMG00000153549 NG_032001 PGOHUM00000240350 HGNC:42428 +HGNC:42429 YBX1P8 Y-box binding protein 1 pseudogene 8 pseudogene pseudogene Approved Xp11.3 Xp11.3 2011-07-25 2015-11-19 2016-10-05 100861476 ENSG00000226048 OTTHUMG00000021425 NG_032031 PGOHUM00000263336 HGNC:42429 +HGNC:42430 YBX1P9 Y-box binding protein 1 pseudogene 9 pseudogene pseudogene Approved 1q42.12 01q42.12 2011-07-25 2015-11-19 2015-11-19 100861470 ENSG00000236994 OTTHUMG00000037559 NG_032027 HGNC:42430 +HGNC:42432 YBX1P10 Y-box binding protein 1 pseudogene 10 pseudogene pseudogene Approved 9p13.3 09p13.3 2011-07-25 2015-11-19 2015-11-19 158373 ENSG00000213866 OTTHUMG00000019890 NG_003008 PGOHUM00000236027 HGNC:42432 +HGNC:17948 YBX2 Y-box binding protein 2 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "MSY2|CSDA3|Contrin" Y-box binding proteins 106 2005-08-11 2015-11-19 2015-11-19 51087 ENSG00000006047 OTTHUMG00000177992 uc002gfq.3 AF096834 NM_015982 CCDS11098 Q9Y2T7 "10100484|9780336" MGI:1096372 RGD:1305068 611447 HGNC:17948 "ENST00000007699.10|NM_015982.4" +HGNC:49498 YBX2P1 YBX2 pseudogene 1 pseudogene pseudogene Approved 10q26.13 10q26.13 Y-box binding protein 2 pseudogene 1 2013-12-20 2019-12-10 2019-12-10 100124332 ENSG00000213438 OTTHUMG00000019210 NG_006652 PGOHUM00000238962 HGNC:49498 +HGNC:54721 YBX2P2 YBX2 pseudogene 2 pseudogene pseudogene Approved 15q26.1 15q26.1 2019-12-10 2019-12-10 100124334 ENSG00000258611 OTTHUMG00000171782 NG_006654 PGOHUM00000293079 +HGNC:2428 YBX3 Y-box binding protein 3 protein-coding gene gene with protein product Approved 12p13.2 12p13.2 "dbpA|ZONAB|CSDA1" cold-shock domain containing A1 CSDA cold shock domain protein A Y-box binding proteins 106 1998-10-23 2013-03-13 2015-11-19 2016-10-05 8531 ENSG00000060138 OTTHUMG00000168409 uc001qyt.4 L29064 NM_003651 "CCDS44831|CCDS8630" P16989 "2977358|8710501" MGI:2137670 RGD:621056 603437 HGNC:2428 "ENST00000228251.9|NM_003651.5" +HGNC:2429 YBX3P1 Y-box binding protein 3 pseudogene 1 pseudogene pseudogene Approved 16p11.2 16p11.2 CSDAP1 cold shock domain protein A pseudogene 1 1999-07-13 2013-03-13 2015-11-19 2017-10-25 440359 ENSG00000261614 OTTHUMG00000176626 Y17508 NR_027011 10343102 PGOHUM00000293514 HGNC:2429 +HGNC:27158 YDJC YdjC chitooligosaccharide deacetylase homolog protein-coding gene gene with protein product Approved 22q11.21 22q11.21 YdjC homolog (bacterial) 2008-02-26 2017-03-30 2019-10-07 150223 ENSG00000161179 OTTHUMG00000150822 uc002zvb.4 NM_001017964 CCDS33613 A8MPS7 18177738 MGI:1916351 RGD:1359227 619770 HGNC:27158 "ENST00000292778.11|NM_001017964.2" +HGNC:25489 YEATS2 YEATS domain containing 2 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 "FLJ10201|FLJ12841|FLJ13308|KIAA1197" "ATAC complex|YEATS domain containing" "1058|1283" 2004-08-18 2016-10-05 55689 ENSG00000163872 OTTHUMG00000156898 uc003fly.2 AB033023 NM_018023 CCDS43175 Q9ULM3 10574462 MGI:2447762 RGD:1566176 613373 HGNC:25489 "ENST00000305135.10|NM_018023.5" HGNC:25489 +HGNC:41101 YEATS2-AS1 YEATS2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q27.1 03q27.1 YEATS2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874113 ENSG00000233885 OTTHUMG00000156899 uc062qpn.1 NR_046727 YEATS2-AS1 HGNC:41101 +HGNC:24859 YEATS4 YEATS domain containing 4 protein-coding gene gene with protein product Approved 12q15 12q15 "NuBI-1|GAS41|YAF9" "YEATS domain containing|SRCAP complex|Tip60/Nua4 histone acetyltransferase complex subunits" "1283|1329|1634" 2004-08-18 2015-07-22 8089 ENSG00000127337 OTTHUMG00000169358 uc001sux.4 AJ245746 NM_006530 "CCDS8990|CCDS73495" O95619 "9302258|11903063" MGI:1927224 RGD:1305741 602116 HGNC:24859 "ENST00000247843.7|NM_006530.4" +HGNC:12841 YES1 YES proto-oncogene 1, Src family tyrosine kinase protein-coding gene gene with protein product Approved 18p11.32 18p11.32 "Yes|c-yes|HsT441" v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 "SH2 domain containing|Src family tyrosine kinases" "741|1388" 1986-01-01 2014-06-26 2016-10-05 7525 ENSG00000176105 OTTHUMG00000131472 uc002kkz.4 M15990 NM_005433 CCDS11824 P07947 2983418 MGI:99147 RGD:3977 164880 objectId:2284 HGNC:12841 "ENST00000314574.5|NM_005433.4" +HGNC:12842 YES1P1 YES1 pseudogene 1 pseudogene pseudogene Approved 22q12.1 22q12.1 D22S670 "SYR|YES2|YESP" v-yes-1 Yamaguchi sarcoma viral oncogene homolog pseudogene 1988-08-31 2014-06-25 2014-06-25 2014-06-25 7526 ENSG00000224003 OTTHUMG00000150872 NG_001213 PGOHUM00000246552 HGNC:12842 +HGNC:16688 YIF1A Yip1 interacting factor homolog A, membrane trafficking protein protein-coding gene gene with protein product Approved 11q13.2 11q13.2 "YIF1P|54TM|FinGER7" YIF1 Yip1 interacting factor homolog (S. cerevisiae) YIP family 1144 2003-05-28 2005-06-07 2016-01-18 2016-10-05 10897 ENSG00000174851 OTTHUMG00000102079 uc001ohk.5 AF004876 NM_020470 "CCDS8132|CCDS73325" O95070 "8824393|10970842|18718466" MGI:1915340 RGD:628749 611484 HGNC:16688 "ENST00000376901.9|NM_020470.3" +HGNC:30511 YIF1B Yip1 interacting factor homolog B, membrane trafficking protein protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FinGER8 Yip1 interacting factor homolog B (S. cerevisiae) YIP family 1144 2005-03-14 2016-01-18 2016-01-18 90522 ENSG00000167645 OTTHUMG00000182324 uc002ohz.3 AL833382 NM_033557 "CCDS46066|CCDS33010|CCDS46067|CCDS12512" Q5BJH7 12975309 MGI:1924504 RGD:735199 619109 HGNC:30511 "ENST00000339413.11|NM_001039672.3" HGNC:30511 +HGNC:25231 YIPF1 Yip1 domain family member 1 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "DJ167A19.1|FinGER1" Yip1 domain family, member 1 Yip1 domain containing 105 2005-07-04 2015-11-11 2019-03-21 54432 ENSG00000058799 OTTHUMG00000008074 uc001cvu.4 BC009674 NM_018982 CCDS584 Q9Y548 28286305 MGI:1915532 RGD:735206 617521 HGNC:25231 "ENST00000072644.7|NM_018982.5" +HGNC:28476 YIPF2 Yip1 domain family member 2 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC3262|FinGER2" Yip1 domain family, member 2 Yip1 domain containing 105 2005-07-04 2015-11-11 2019-03-21 78992 ENSG00000130733 OTTHUMG00000180796 uc002mqc.4 BC013014 NM_024029 "CCDS82293|CCDS12251" Q9BWQ6 28286305 MGI:1922016 RGD:1307512 617522 HGNC:28476 "ENST00000586748.6|NM_001321439.2" +HGNC:21023 YIPF3 Yip1 domain family member 3 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "DKFZp566C243|KLIP1|dJ337H4.3|FinGER3" C6orf109 "chromosome 6 open reading frame 109|Yip1 domain family, member 3" Yip1 domain containing 105 2003-11-25 2005-07-04 2015-11-11 2015-11-11 25844 ENSG00000137207 OTTHUMG00000014738 uc003ovl.2 AK000946 NM_015388 CCDS4899 Q9GZM5 MGI:106280 RGD:1308185 609775 HGNC:21023 "ENST00000372422.7|NM_015388.4" +HGNC:28145 YIPF4 Yip1 domain family member 4 protein-coding gene gene with protein product Approved 2p22.3 02p22.3 "MGC11061|FinGER4" Yip1 domain family, member 4 Yip1 domain containing 105 2005-07-04 2015-11-11 2019-03-21 84272 ENSG00000119820 OTTHUMG00000128452 uc002rok.4 AK098486 NM_032312 CCDS1781 Q9BSR8 "21757827|26235900" MGI:1915114 RGD:1310157 617534 HGNC:28145 "ENST00000238831.9|NM_032312.4" +HGNC:24877 YIPF5 Yip1 domain family member 5 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "SMAP-5|FinGER5" Yip1 domain family, member 5 Yip1 domain containing 105 2005-07-04 2015-11-11 2015-11-11 81555 ENSG00000145817 OTTHUMG00000129679 uc003lnl.6 AF318329 NM_030799 "CCDS4279|CCDS64277" Q969M3 "12975309|18718466" MGI:1914430 RGD:1359165 611483 HGNC:24877 "ENST00000274496.10|NM_030799.9" HGNC:24877 +HGNC:28304 YIPF6 Yip1 domain family member 6 protein-coding gene gene with protein product Approved Xq12-q13.1 Xq12-q13.1 "MGC21416|FinGER6" Yip1 domain family, member 6 Yip1 domain containing 105 2005-07-04 2015-11-11 2019-03-21 286451 ENSG00000181704 OTTHUMG00000021745 uc004dwz.4 BC012469 NM_173834 "CCDS56604|CCDS14389" Q96EC8 28286305 MGI:1925179 RGD:1566154 300996 HGNC:28304 "ENST00000462683.6|NM_173834.4" +HGNC:26825 YIPF7 Yip1 domain family member 7 protein-coding gene gene with protein product Approved 4p12 04p12 "FLJ39576|FinGER9" Yip1 domain family, member 7 Yip1 domain containing 105 2005-07-04 2015-11-11 2016-10-05 285525 ENSG00000177752 OTTHUMG00000160467 uc062whs.1 AK096895 NM_182592 CCDS54766 Q8N8F6 MGI:1922831 RGD:1310766 619754 HGNC:26825 "ENST00000415895.9|NM_182592.3" +HGNC:24785 YJEFN3 YjeF N-terminal domain containing 3 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "hYjeF_N3-19p13.11|FLJ44968" 2008-08-19 2014-09-11 374887 ENSG00000250067 OTTHUMG00000162251 uc010ecf.3 NM_198537 "CCDS54236|CCDS42530" A6XGL0 17533573 MGI:2681845 RGD:1563236 618607 HGNC:24785 "ENST00000514277.6|NM_198537.4" +HGNC:25518 YJU2 YJU2 splicing factor homolog protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ10374 CCDC94 coiled-coil domain containing 94 2006-03-24 2018-02-23 2018-02-23 2020-04-01 55702 ENSG00000105248 OTTHUMG00000181867 uc002lzv.5 AK001236 NM_018074 CCDS12124 Q9BW85 22952453 MGI:1920136 RGD:1589601 HGNC:25518 "ENST00000262962.12|NM_018074.6" +HGNC:28118 YJU2B YJU2 splicing factor homolog B protein-coding gene gene with protein product Approved 19p13.13 19p13.13 MGC10471 CCDC130 coiled-coil domain containing 130 NTC associated proteins 1498 2006-08-22 2021-03-26 2021-03-26 2021-03-26 81576 ENSG00000104957 OTTHUMG00000180837 uc060uit.1 AF250306 NM_030818 CCDS12296 P13994 3203696 MGI:1914986 RGD:1307598 HGNC:28118 "ENST00000221554.13|NM_030818.4" +HGNC:16959 YKT6 YKT6 v-SNARE homolog protein-coding gene gene with protein product Approved 7p13 07p13 R-SNARE YKT6 v-SNARE homolog (S. cerevisiae) SNAREs 1124 2006-04-21 2017-03-08 2017-03-08 10652 ENSG00000106636 OTTHUMG00000129089 uc003tkm.4 BC007319 NM_006555 "CCDS87497|CCDS5482" O15498 "15479160|15544955" MGI:1927550 RGD:70897 606209 HGNC:16959 "ENST00000223369.3|NM_006555.4" +HGNC:17798 YLPM1 YLP motif containing 1 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "ZAP|PPP1R169" protein phosphatase 1, regulatory subunit 169 C14orf170 chromosome 14 open reading frame 170 Protein phosphatase 1 regulatory subunits 694 2003-11-21 2004-07-15 2004-07-15 2014-06-13 56252 ENSG00000119596 OTTHUMG00000172503 uc001xqj.5 AK090435 NM_019589 CCDS45135 P49750 7596406 MGI:1926195 RGD:1564946 619766 HGNC:17798 "ENST00000325680.12|NM_019589.3" +HGNC:12843 YME1L1 YME1 like 1 ATPase protein-coding gene gene with protein product Approved 10p12.1 10p12.1 YME1L "YME1 (S.cerevisiae)-like 1|YME1-like 1 (S. cerevisiae)|YME1-like 1 ATPase" AAA ATPases 413 1999-04-15 2015-12-04 2020-09-22 10730 ENSG00000136758 OTTHUMG00000017853 uc001itj.4 AJ132637 NM_139312 "CCDS7152|CCDS58072|CCDS7151" Q96TA2 22262461 MGI:1351651 RGD:620764 607472 M41.026 HGNC:12843 "ENST00000376016.8|NM_014263.4" HGNC:12843 +HGNC:12844 YME1L1P1 YME1L1 pseudogene 1 pseudogene pseudogene Approved 22q11.1 22q11.1 YME1L2 "YME1 (S.cerevisiae)-like 2|YME1-like 2 (S. cerevisiae)|YME1-like 1 (S. cerevisiae) pseudogene 1" 1999-10-28 2010-10-15 2013-06-10 2020-09-09 23749 ENSG00000236831 OTTHUMG00000140356 NG_002636 10591208 PGOHUM00000246193 HGNC:12844 +HGNC:25035 YOD1 YOD1 deubiquitinase protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "DKFZp451J1719|OTUD2|DUBA8" "YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)|YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)" OTU domain containing 669 2005-05-26 2013-06-04 2016-10-05 55432 ENSG00000180667 OTTHUMG00000036032 uc001hfe.1 NM_018566 "CCDS31002|CCDS60402" Q5VVQ6 MGI:2442596 RGD:1359726 612023 HGNC:25035 "ENST00000315927.9|NM_018566.4" +HGNC:12845 YPEL1 yippee like 1 protein-coding gene gene with protein product Approved 22q11.21-q11.22 22q11.21-q11.22 "yippee (Drosophila) homolog-like 1|yippee-like 1 (Drosophila)" Yippee like family 1130 2000-05-05 2015-11-05 2018-02-13 29799 ENSG00000100027 OTTHUMG00000150830 uc002zvl.4 AF060862 NM_013313 CCDS13794 O60688 "11473580|15556292" MGI:1913303 RGD:2321291 608082 HGNC:12845 "ENST00000339468.8|NM_013313.5" +HGNC:18326 YPEL2 yippee like 2 protein-coding gene gene with protein product Approved 17q22 17q22 FKSG4 yippee-like 2 (Drosophila) "Yippee like family|MicroRNA protein coding host genes" "1130|1691" 2004-02-20 2015-11-05 2018-11-22 388403 ENSG00000175155 OTTHUMG00000179378 uc002ixm.2 AF305195 NM_001005404 CCDS32695 Q96QA6 15556292 MGI:1925114 RGD:1311564 609723 HGNC:18326 "ENST00000312655.9|NM_001005404.4" HGNC:18326 +HGNC:18327 YPEL3 yippee like 3 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC10500 yippee-like 3 (Drosophila) Yippee like family 1130 2004-08-12 2015-11-05 2015-11-05 83719 ENSG00000090238 OTTHUMG00000176853 uc059tai.1 AF305622 NM_031477 "CCDS42147|CCDS45459" P61236 15556292 MGI:1913340 RGD:1564579 609724 HGNC:18327 "ENST00000398841.6|NM_031477.5" +HGNC:55547 YPEL3-DT YPEL3 divergent transcript non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 Divergent transcripts 1990 2021-03-24 2021-03-24 101928595 ENSG00000250616 NR_135192 +HGNC:18328 YPEL4 yippee like 4 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 FLJ30213 yippee-like 4 (Drosophila) Yippee like family 1130 2004-08-12 2015-11-05 2015-11-05 219539 ENSG00000166793 OTTHUMG00000167138 uc058bnh.1 AK054775 NM_145008 CCDS7963 Q96NS1 15556292 MGI:3605071 RGD:1560142 609725 HGNC:18328 "ENST00000300022.8|NM_145008.3" +HGNC:18329 YPEL5 yippee like 5 protein-coding gene gene with protein product Approved 2p23.1 02p23.1 CGI-127 yippee-like 5 (Drosophila) Yippee like family 1130 2004-06-28 2015-11-05 2016-10-05 51646 ENSG00000119801 OTTHUMG00000097839 uc002rna.5 AF135161 NM_016061 CCDS1771 P62699 15556292 MGI:1916937 RGD:1309657 609726 HGNC:18329 "ENST00000261353.9|NM_016061.3" +HGNC:50555 YPEL5P1 YPEL5 pseudogene 1 pseudogene pseudogene Approved 1q25.3 01q25.3 2014-05-21 2014-12-17 2014-12-17 100130996 ENSG00000232096 OTTHUMG00000037406 NG_023360 PGOHUM00000244360 HGNC:50555 +HGNC:50556 YPEL5P2 YPEL5 pseudogene 2 pseudogene pseudogene Approved 11p11.2 11p11.2 2014-05-21 2014-12-17 2014-12-17 100132562 ENSG00000271557 OTTHUMG00000184763 NG_028134 PGOHUM00000242664 HGNC:50556 +HGNC:50557 YPEL5P3 YPEL5 pseudogene 3 pseudogene pseudogene Approved 12q23.1 12q23.1 2014-05-21 2014-12-17 2014-12-17 100653396 ENSG00000258251 OTTHUMG00000170362 NG_029645 PGOHUM00000239551 HGNC:50557 +HGNC:28905 YRDC yrdC N6-threonylcarbamoyltransferase domain containing protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ23476|IRIP|SUA5" ischemia/reperfusion inducible protein "yrdC domain containing (E.coli)|yrdC domain containing (E. coli)" 2005-08-08 2016-04-12 2016-04-12 79693 ENSG00000196449 OTTHUMG00000004318 uc001cca.2 NM_024640 CCDS30675 Q86U90 12730717 MGI:2387201 RGD:708492 612276 HGNC:28905 "ENST00000373044.3|NM_024640.4" HGNC:28905 +HGNC:39919 YRDCP1 yrdC N(6)-threonylcarbamoyltransferase domain containing pseudogene 1 pseudogene pseudogene Approved 9q22.32 09q22.32 yrdC domain containing (E. coli) pseudogene 1 2011-04-12 2013-09-12 2015-05-07 100420501 ENSG00000278486 OTTHUMG00000187831 NG_023852 PGOHUM00000303998 HGNC:39919 +HGNC:39920 YRDCP2 yrdC N(6)-threonylcarbamoyltransferase domain containing pseudogene 2 pseudogene pseudogene Approved 9q22.33 09q22.33 yrdC domain containing (E. coli) pseudogene 2 2011-04-12 2013-09-12 2015-05-07 100128237 ENSG00000236745 OTTHUMG00000020308 NG_021668 PGOHUM00000304408 HGNC:39920 +HGNC:39921 YRDCP3 yrdC N(6)-threonylcarbamoyltransferase domain containing pseudogene 3 pseudogene pseudogene Approved 21q22.2 21q22.2 yrdC domain containing (E. coli) pseudogene 3 2011-04-12 2013-09-12 2015-05-07 100861429 ENSG00000230859 OTTHUMG00000154985 NG_031997 PGOHUM00000297386 HGNC:39921 +HGNC:30626 YTHDC1 YTH domain containing 1 protein-coding gene gene with protein product Approved 4q13.2 04q13.2 "YT521|KIAA1966|YT521-B" 2006-01-31 2016-10-05 91746 ENSG00000083896 OTTHUMG00000129306 uc003hdy.4 AK098515 NM_133370 "CCDS3522|CCDS33992|CCDS82929" Q96MU7 "12368078|10564280" MGI:2443713 RGD:621706 617283 HGNC:30626 "ENST00000344157.9|NM_001031732.4" HGNC:30626 +HGNC:24721 YTHDC2 YTH domain containing 2 protein-coding gene gene with protein product Approved 5q22.2 05q22.2 "FLJ2194|FLJ10053|DKFZp564A186" 2004-06-01 2019-03-21 64848 ENSG00000047188 OTTHUMG00000128837 uc003kqn.4 AK000915 NM_022828 CCDS4113 Q9H6S0 "24269672|29033321" MGI:2448561 RGD:1563192 616530 HGNC:24721 "ENST00000161863.9|NM_022828.5" +HGNC:15867 YTHDF1 YTH N6-methyladenosine RNA binding protein 1 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 FLJ20391 C20orf21 "YTH domain family 1|YTH domain family, member 1|YTH N(6)-methyladenosine RNA binding protein 1" 2001-06-21 2004-06-04 2016-04-12 2016-04-12 54915 ENSG00000149658 OTTHUMG00000032955 uc002yeh.4 AK000398 NM_017798 CCDS13511 Q9BYJ9 24284625 MGI:1917431 RGD:1308932 616529 HGNC:15867 "ENST00000370339.8|NM_017798.4" +HGNC:31681 YTHDF1P1 YTH domain family member 1 pseudogene 1 pseudogene pseudogene Approved 5q15 05q15 YTHDF1P "YTH domain family 1 pseudogene|YTH domain family, member 1 pseudogene|YTH domain family, member 1 pseudogene 1" 2004-06-01 2010-09-24 2015-11-18 2015-11-18 402220 ENSG00000251389 OTTHUMG00000162697 NG_004396 PGOHUM00000258202 HGNC:31681 +HGNC:31675 YTHDF2 YTH N6-methyladenosine RNA binding protein 2 protein-coding gene gene with protein product Approved 1p35.3 01p35.3 "HGRG8|NY-REN-2|CAHL" "YTH domain family 2|YTH domain family, member 2|YTH N(6)-methyladenosine RNA binding protein 2" 2004-06-01 2016-04-12 2016-10-05 51441 ENSG00000198492 OTTHUMG00000003648 uc021okf.2 AF155095 NM_016258 "CCDS41296|CCDS53287" Q9Y5A9 "10508479|22575960" MGI:2444233 RGD:1311321 610640 HGNC:31675 "ENST00000373812.8|NM_016258.3" +HGNC:19865 YTHDF2P1 YTH domain family member 2 pseudogene 1 pseudogene pseudogene Approved 14q21.1 14q21.1 "HGRG8|NY-REN-2" YTHDF2P "YTH domain family, member 2 pseudogene|YTH domain family, member 2 pseudogene 1" 2004-06-01 2010-09-24 2015-11-18 2015-11-18 400209 ENSG00000270503 OTTHUMG00000184431 NG_004109 10508479 PGOHUM00000292637 HGNC:19865 +HGNC:26465 YTHDF3 YTH N6-methyladenosine RNA binding protein 3 protein-coding gene gene with protein product Approved 8q12.3 08q12.3 FLJ31657 "YTH domain family 3|YTH domain family, member 3|YTH N(6)-methyladenosine RNA binding protein 3" 2004-06-01 2016-04-12 2016-04-12 253943 ENSG00000185728 OTTHUMG00000164369 uc033bnj.2 BC052970 NM_152758 "CCDS75747|CCDS75748|CCDS75749" Q7Z739 22575960 MGI:1918850 RGD:1305234 618669 HGNC:26465 "ENST00000539294.6|NM_152758.6" +HGNC:48728 YTHDF3-DT YTHDF3 divergent transcript non-coding RNA RNA, long non-coding Approved 8q12.3 08q12.3 YTHDF3-AS1 YTHDF3 antisense RNA 1 (head to head) Divergent transcripts 1990 2013-06-07 2020-09-27 2020-09-27 2020-09-27 101410533 ENSG00000270673 OTTHUMG00000185282 "BM681776|BM967225|BQ631682" NR_102684 YTHDF3-AS1 HGNC:48728 +HGNC:12849 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "14-3-3 beta|14-3-3 alpha" YWHAA "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide" 14-3-3 phospho-serine/phospho-threonine binding proteins 1053 1993-09-20 2016-02-29 2016-10-05 7529 ENSG00000166913 OTTHUMG00000032549 uc002xmu.5 X57346 NM_003404 CCDS13339 P31946 "8617504|7890696" MGI:1891917 RGD:61998 601289 HGNC:12849 "ENST00000353703.9|NM_139323.4" +HGNC:50294 YWHABP1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta pseudogene 1 pseudogene pseudogene Approved 9p13.1 09p13.1 2014-04-02 2016-02-29 2016-02-29 647051 ENSG00000237557 OTTHUMG00000019949 NG_021647 PGOHUM00000236462 HGNC:50294 +HGNC:50295 YWHABP2 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta pseudogene 2 pseudogene pseudogene Approved 11p15.1 11p15.1 2014-04-03 2016-02-29 2016-02-29 100422666 ENSG00000256464 OTTHUMG00000167726 NG_024320 PGOHUM00000242182 HGNC:50295 +HGNC:12851 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon protein-coding gene gene with protein product Approved 17p13.3 17p13.3 FLJ45465 14-3-3 epsilon tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 14-3-3 phospho-serine/phospho-threonine binding proteins 1053 1993-09-20 2016-02-29 2016-02-29 7531 ENSG00000108953 OTTHUMG00000134316 uc002fsj.4 U54778 NM_006761 CCDS11001 P62258 9371399 MGI:894689 RGD:62000 YWHAE 605066 269928 HGNC:12851 "ENST00000264335.13|NM_006761.5" +HGNC:49442 YWHAEP1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2013-12-03 2016-03-01 2016-03-01 649395 ENSG00000232727 OTTHUMG00000156252 NR_029404 PGOHUM00000302734 HGNC:49442 +HGNC:49429 YWHAEP2 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2013-12-03 2016-03-01 2016-03-01 106481688 ENSG00000266162 OTTHUMG00000179532 NG_043108 PGOHUM00000293977 HGNC:49429 +HGNC:49430 YWHAEP3 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 3 pseudogene pseudogene Approved 17p11.2 17p11.2 2013-12-03 2016-03-01 2016-03-01 106480273 ENSG00000263976 OTTHUMG00000130728 NG_044047 PGOHUM00000293989 HGNC:49430 +HGNC:49440 YWHAEP4 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 4 pseudogene pseudogene Approved 4q32.1 04q32.1 2013-12-03 2016-03-01 2016-03-01 106481785 ENSG00000250205 OTTHUMG00000161482 NG_045104 PGOHUM00000300038 HGNC:49440 +HGNC:49439 YWHAEP5 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 5 pseudogene pseudogene Approved 2q22.1 02q22.1 2013-12-03 2016-03-01 2016-03-01 440917 ENSG00000234645 OTTHUMG00000153613 NG_023209 PGOHUM00000298163 HGNC:49439 +HGNC:49435 YWHAEP6 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 6 pseudogene pseudogene Approved 17q12 17q12 2013-12-03 2016-03-01 2016-03-01 112296172 NG_066015 PGOHUM00000259217 HGNC:49435 +HGNC:49437 YWHAEP7 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 7 pseudogene pseudogene Approved 17q12 17q12 LOC284100 2013-12-03 2016-03-01 2016-03-01 284100 ENSG00000276715 OTTHUMG00000188480 NR_024178 24312300 PGOHUM00000294091 HGNC:49437 +HGNC:12852 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "PPP1R170|14-3-3GAMMA|14-3-3γ" "14-3-3 gamma|protein phosphatase 1, regulatory subunit 170" tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 14-3-3 phospho-serine/phospho-threonine binding proteins 1053 1993-09-20 2016-03-01 2021-05-26 7532 ENSG00000170027 OTTHUMG00000022862 uc011kgj.2 AF142498 NM_012479 CCDS5584 P61981 "10486217|10433554" MGI:108109 RGD:62002 605356 HGNC:12852 "ENST00000307630.5|NM_012479.4" HGNC:12852 +HGNC:12853 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta protein-coding gene gene with protein product Approved 22q12.3 22q12.3 14-3-3 eta YWHA1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide 14-3-3 phospho-serine/phospho-threonine binding proteins 1053 1991-08-06 2016-03-01 2016-10-05 7533 ENSG00000128245 OTTHUMG00000030833 uc003alz.4 X78138 NM_003405 CCDS13901 Q04917 MGI:109194 RGD:3978 113508 HGNC:12853 "ENST00000248975.6|NM_003405.4" +HGNC:23051 YWHAH-AS1 YWHAH antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.3 22q12.3 HSN44A4A C22orf24 "chromosome 22 open reading frame 24|chromosome 22 putative open reading frame 24" Antisense RNAs 1987 2004-05-05 2021-02-22 2021-02-22 2021-02-22 25775 ENSG00000128254 OTTHUMG00000030834 uc003aly.4 NR_126507 Q9Y442 HGNC:23051 +HGNC:12854 YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta protein-coding gene gene with protein product Approved 2p25.1 02p25.1 "HS1|14-3-3" "protein tau|14-3-3 theta" "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide|protein, theta" 14-3-3 phospho-serine/phospho-threonine binding proteins 1053 1999-08-20 2016-02-29 2018-04-05 10971 ENSG00000134308 OTTHUMG00000013848 uc002qzx.5 AF070556 NM_006826 CCDS1666 P27348 11080204 MGI:891963 RGD:3979 609009 HGNC:12854 "ENST00000238081.8|NM_006826.4" +HGNC:19937 YWHAQP1 YWHAQ pseudogene 1 pseudogene pseudogene Approved 14q21.1 14q21.1 YWHAQP tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta pseudogene 2003-01-13 2010-01-12 2010-01-13 2020-04-07 319121 ENSG00000258934 OTTHUMG00000170703 NG_002502 PGOHUM00000247782 HGNC:19937 +HGNC:23211 YWHAQP2 YWHAQ pseudogene 2 pseudogene pseudogene Approved 22q13.2 22q13.2 2003-10-14 2010-01-12 246716 NG_001580 11080204 HGNC:23211 +HGNC:37682 YWHAQP3 YWHAQ pseudogene 3 pseudogene pseudogene Approved 12q13.3 12q13.3 2010-01-13 2014-11-19 100128944 NG_028176 PGOHUM00000239811 HGNC:37682 +HGNC:37683 YWHAQP4 YWHAQ pseudogene 4 pseudogene pseudogene Approved 4q32.3 04q32.3 2010-01-13 2020-04-06 646954 ENSG00000177803 OTTHUMG00000161473 NG_028173 PGOHUM00000246126 HGNC:37683 +HGNC:37684 YWHAQP5 YWHAQ pseudogene 5 pseudogene pseudogene Approved 2q11.2 02q11.2 2010-01-13 2014-11-19 100130391 ENSG00000236564 OTTHUMG00000153115 NG_028174 PGOHUM00000240813 HGNC:37684 +HGNC:37685 YWHAQP6 YWHAQ pseudogene 6 pseudogene pseudogene Approved 3q23 03q23 2010-01-13 2020-04-20 101290504 ENSG00000249986 OTTHUMG00000160145 NG_042187 PGOHUM00000237795 HGNC:37685 +HGNC:37686 YWHAQP7 YWHAQ pseudogene 7 pseudogene pseudogene Approved 12q21.2 12q21.2 2010-01-13 2015-07-22 100422674 ENSG00000271142 OTTHUMG00000184752 NG_028769 PGOHUM00000291739 HGNC:37686 +HGNC:37687 YWHAQP8 YWHAQ pseudogene 8 pseudogene pseudogene Approved Xq22.1 Xq22.1 2010-01-13 2020-04-06 392510 ENSG00000231643 OTTHUMG00000022019 NG_005333 PGOHUM00000241467 HGNC:37687 +HGNC:37688 YWHAQP9 YWHAQ pseudogene 9 pseudogene pseudogene Approved 1q43 01q43 2010-06-17 2014-11-19 101290508 ENSG00000230019 OTTHUMG00000039601 NG_033177 PGOHUM00000244499 HGNC:37688 +HGNC:12855 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta protein-coding gene gene with protein product Approved 8q22.3 08q22.3 "KCIP-1|14-3-3-zeta" "14-3-3 zeta|14-3-3 delta" YWHAD "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide|tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide" 14-3-3 phospho-serine/phospho-threonine binding proteins 1053 1993-09-20 2016-02-29 2016-02-29 7534 ENSG00000164924 OTTHUMG00000134291 uc064pcn.1 U28964 NM_145690 CCDS6290 P63104 "8617504|7890696" MGI:109484 RGD:3980 601288 HGNC:12855 "ENST00000395958.6|NM_145690.3" +HGNC:19938 YWHAZP1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 1 pseudogene pseudogene Approved 14q21.2 14q21.2 YWHAZP tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 2003-01-13 2006-09-21 2016-03-01 2017-03-21 319120 ENSG00000259148 OTTHUMG00000170685 NG_002501 PGOHUM00000292340 HGNC:19938 +HGNC:31078 YWHAZP2 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 2 pseudogene pseudogene Approved 2q14.3 02q14.3 2004-01-26 2016-03-01 2020-04-20 150554 ENSG00000213236 OTTHUMG00000153373 NG_001553 PGOHUM00000257036 HGNC:31078 +HGNC:31101 YWHAZP3 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 3 pseudogene pseudogene Approved 10p12.2 10p12.2 2004-05-28 2016-03-01 2016-10-05 143371 ENSG00000229932 OTTHUMG00000017813 NG_001545 HGNC:31101 +HGNC:30851 YWHAZP4 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 4 pseudogene pseudogene Approved 6q22.33 06q22.33 2006-09-21 2016-03-01 2016-10-05 246737 ENSG00000213131 OTTHUMG00000015524 NG_001587 PGOHUM00000243768 HGNC:30851 +HGNC:30564 YWHAZP5 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 5 pseudogene pseudogene Approved 10q25.1 10q25.1 2007-07-31 2016-03-01 2016-03-01 86123 ENSG00000213260 OTTHUMG00000019013 NG_001531 PGOHUM00000256662 HGNC:30564 +HGNC:30849 YWHAZP6 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 6 pseudogene pseudogene Approved 9p13.3 09p13.3 2010-09-24 2016-03-01 2016-03-01 158383 ENSG00000215199 OTTHUMG00000019843 NG_001561 PGOHUM00000257221 HGNC:30849 +HGNC:39028 YWHAZP7 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 7 pseudogene pseudogene Approved Xq11.2 Xq11.2 2010-09-24 2016-03-01 2016-03-01 100130640 ENSG00000227261 OTTHUMG00000021708 NG_028959 PGOHUM00000241351 HGNC:39028 +HGNC:39029 YWHAZP8 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 8 pseudogene pseudogene Approved Xq13.2 Xq13.2 2010-09-24 2016-03-01 2016-03-01 646016 ENSG00000225664 OTTHUMG00000021828 NG_022672 PGOHUM00000257271 HGNC:39029 +HGNC:39030 YWHAZP9 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 9 pseudogene pseudogene Approved 11q12.1 11q12.1 2010-09-24 2016-03-01 2016-03-01 441609 NG_005491 HGNC:39030 +HGNC:54939 YWHAZP10 YWHAZ pseudogene 10 pseudogene pseudogene Approved Xp11.4 Xp11.4 2020-04-30 2020-04-30 158781 ENSG00000217624 NG_001562 +HGNC:12856 YY1 YY1 transcription factor protein-coding gene gene with protein product Approved 14q32.2 14q32.2 "NF-E1|DELTA|UCRBP|YIN-YANG-1|INO80S" "INO80 complex subunit S|Yin and Yang 1 protein" "Zinc fingers C2H2-type|INO80 complex " "28|595" 1993-09-17 2021-05-26 7528 ENSG00000100811 OTTHUMG00000150479 uc001ygy.3 BC020324 NM_003403 CCDS9957 P25490 "1655281|7912122" MGI:99150 RGD:3982 600013 471344 HGNC:12856 "ENST00000262238.10|NM_003403.5" HGNC:12856 +HGNC:30935 YY1AP1 YY1 associated protein 1 protein-coding gene gene with protein product Approved 1q22 01q22 "YY1AP|HCCA2|YAP" 2005-02-09 2015-09-03 55249 ENSG00000163374 OTTHUMG00000035437 uc010pgi.3 BC008766 NM_139118 "CCDS1116|CCDS55643|CCDS55644|CCDS1115|CCDS55645" Q9H869 11710830 MGI:1917579 607860 HGNC:30935 "ENST00000355499.9|NM_139119.3" HGNC:30935 +HGNC:45094 YY1P1 YY1 transcription factor pseudogene 1 pseudogene pseudogene Approved 10q22.1 10q22.1 2013-02-14 2013-02-14 100419963 ENSG00000230661 OTTHUMG00000018405 NG_025445 PGOHUM00000238524 HGNC:45094 +HGNC:45095 YY1P2 YY1 transcription factor pseudogene 2 pseudogene pseudogene Approved 2q22.1 02q22.1 2013-02-14 2013-02-14 647012 ENSG00000229104 OTTHUMG00000153634 NR_033658 PGOHUM00000240965 HGNC:45095 +HGNC:31684 YY2 YY2 transcription factor protein-coding gene gene with protein product Approved Xp22.12 Xp22.12 ZNF631 transcription factor yin yang 2 Zinc fingers C2H2-type 28 2004-05-27 2020-04-02 404281 ENSG00000230797 OTTHUMG00000021236 uc011mjp.2 AK091850 NM_206923 CCDS14202 O15391 14702039 MGI:3837947 RGD:2324567 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/YY2 300570 HGNC:31684 "ENST00000429584.3|NM_206923.4" +HGNC:29504 ZACN zinc activated ion channel protein-coding gene gene with protein product Approved 17q25.1 17q25.1 "LGICZ|L2|ZAC|ZAC1" LGICZ1 "ligand-gated ion channel, zinc activated 1|zinc activated ligand-gated ion channel" Zinc activated channels 176 2006-01-31 2008-04-17 2016-02-05 2016-10-05 353174 ENSG00000186919 OTTHUMG00000157186 uc002jqn.3 AK122638 NM_180990 CCDS11740 Q401N2 "12381728|16083862" 610935 objectId:587 HGNC:29504 "ENST00000334586.10|NM_180990.4" +HGNC:51915 ZACNP1 zinc activated ion channel pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 zinc activated ligand-gated ion channel pseudogene 1 2015-10-06 2016-02-05 2016-02-05 101929026 ENSG00000278589 OTTHUMG00000187581 PGOHUM00000300315 HGNC:51915 +HGNC:12857 ZAN zonadhesin protein-coding gene gene with protein product Approved 7q22.1 07q22.1 zonadhesin (gene/pseudogene) 1996-06-07 2020-05-01 2020-05-01 7455 ENSG00000146839 OTTHUMG00000157037 uc032zzi.1 U83191 NM_003386 "CCDS47664|CCDS47663" Q9Y493 "9799793|17033959" MGI:106656 RGD:1305044 602372 HGNC:12857 "ENST00000613979.5|NM_003386.3" +HGNC:12858 ZAP70 zeta chain of T cell receptor associated protein kinase 70 protein-coding gene gene with protein product Approved 2q11.2 02q11.2 "ZAP-70|STD" tyrosine-protein kinase ZAP-70 SRK SRK "SH2 domain containing|Syk family tyrosine kinases" "741|1464" 1995-05-16 2017-12-06 2021-04-13 7535 ENSG00000115085 OTTHUMG00000153060 uc002syd.2 L05148 NM_001079 "CCDS33255|CCDS33254" P43403 1423621 MGI:99613 RGD:3983 "ZAP70base: Mutation registry for autosomal recessive ZAP70 immunodeficiency|http://structure.bmc.lu.se/idbase/ZAP70base/index2.html|LRG_126|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_126.xml" 176947 120579 objectId:2285 HGNC:12858 "ENST00000264972.10|NM_001079.4" HGNC:12858 +HGNC:20436 ZAR1 zygote arrest 1 protein-coding gene gene with protein product Approved 4p11 04p11 Z3CXXC6 zinc finger, 3CxxC-type 6 Zinc fingers 3CxxC-type 137 2003-02-07 2014-11-19 326340 ENSG00000182223 OTTHUMG00000102093 uc003gyd.4 AY193890 NM_175619 CCDS3483 Q86SH2 12539046 MGI:2180337 RGD:727972 607520 HGNC:20436 "ENST00000327939.4|NM_175619.3" +HGNC:37116 ZAR1L zygote arrest 1 like protein-coding gene gene with protein product Approved 13q13.1 13q13.1 Z3CXXC7 zinc finger, 3CxxC-type 7 Zinc fingers 3CxxC-type 137 2009-06-23 2017-02-20 2017-02-20 646799 ENSG00000189167 OTTHUMG00000016694 uc058wfs.1 NM_001136571 CCDS45023 A6NP61 18442940 MGI:3690051 RGD:1591034 HGNC:37116 "ENST00000533490.7|NM_001136571.2" +HGNC:26245 ZBBX zinc finger B-box domain containing protein-coding gene gene with protein product Approved 3q26.1 03q26.1 FLJ23049 2008-02-18 2016-02-12 2016-02-12 79740 ENSG00000169064 OTTHUMG00000133560 uc003fep.4 AK026702 NM_024687 "CCDS56295|CCDS3199|CCDS56296" A8MT70 12477932 MGI:2674085 RGD:1308632 HGNC:26245 "ENST00000675490.1|NM_001199201.2" +HGNC:447 ZBED1 zinc finger BED-type containing 1 protein-coding gene gene with protein product Approved Xp22.33 and Yp11 Xp22.33 and Yp11 "TRAMP|KIAA0785|DREF|hDREF" ALTE Ac-like transposable element "Zinc fingers BED-type|Pseudoautosomal region 1" "64|715" 2000-05-11 2004-01-16 2016-02-12 2020-09-17 9189 ENSG00000214717 OTTHUMG00000021069 uc022ciu.2 AB018328 NM_004729 CCDS14118 O96006 "9872452|9887332|23533661" Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZBED1 300178 HGNC:447 "ENST00000652001.1|NM_001171136.2" +HGNC:44004 ZBED1P1 zinc finger BED-type containing 1 pseudogene 1 pseudogene pseudogene Approved 4q25 04q25 2012-05-28 2016-02-12 2016-02-12 645145 ENSG00000250304 OTTHUMG00000161111 NG_008326 PGOHUM00000246025 HGNC:44004 +HGNC:20710 ZBED2 zinc finger BED-type containing 2 protein-coding gene gene with protein product Approved 3q13.13 03q13.13 MGC10796 Zinc fingers BED-type 64 2003-03-21 2016-02-12 2016-02-12 79413 ENSG00000177494 OTTHUMG00000074061 uc003dxy.4 BC003536 NM_024508 CCDS2960 Q9BTP6 23533661 MGI:1919364 615246 HGNC:20710 "ENST00000317012.5|NM_024508.5" +HGNC:20711 ZBED3 zinc finger BED-type containing 3 protein-coding gene gene with protein product Approved 5q13.3 05q13.3 MGC15435 "Zinc fingers BED-type|Small nucleolar RNA protein coding host genes" "64|1835" 2003-03-21 2016-02-12 2016-10-05 84327 ENSG00000132846 OTTHUMG00000102131 uc003kev.2 BC007239 NM_032367 CCDS4036 Q96IU2 23533661 MGI:1919364 RGD:1309665 615250 HGNC:20711 "ENST00000255198.3|NM_032367.4" +HGNC:44188 ZBED3-AS1 ZBED3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q13.3 05q13.3 lnc13728 ZBED3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2021-03-15 728723 ENSG00000250802 OTTHUMG00000162473 uc063est.1 NR_024398 25482444 ZBED3-AS1 HGNC:44188 +HGNC:20721 ZBED4 zinc finger BED-type containing 4 protein-coding gene gene with protein product Approved 22q13.33 22q13.33 KIAA0637 Zinc fingers BED-type 64 2003-03-24 2016-02-12 2016-02-12 9889 ENSG00000100426 OTTHUMG00000150291 uc003bix.3 AB014537 NM_014838 CCDS33677 O75132 23533661 MGI:2682302 RGD:1305949 612552 HGNC:20721 "ENST00000216268.6|NM_014838.3" +HGNC:30803 ZBED5 zinc finger BED-type containing 5 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Buster1 Zinc fingers BED-type 64 2006-07-14 2016-02-12 2016-10-05 58486 ENSG00000236287 OTTHUMG00000150341 uc057zcl.1 AF205601 NM_021211 Q49AG3 "10607616|23533661" MGI:1919220 RGD:1559988 615251 HGNC:30803 "ENST00000413761.7|NM_001143667.2" +HGNC:48646 ZBED5-AS1 ZBED5 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 11p15.4 11p15.4 Antisense RNAs 1987 2013-05-31 2021-04-28 729013 ENSG00000247271 OTTHUMG00000165888 NR_034137 ZBED5-AS1 HGNC:48646 +HGNC:33273 ZBED6 zinc finger BED-type containing 6 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 "Zinc fingers BED-type|DNA transposon derived genes" "64|1415" 2010-06-28 2016-02-12 2016-02-12 100381270 ENSG00000257315 OTTHUMG00000170422 uc021phs.2 NM_001174108 CCDS55673 P86452 "20016685|20375320|23533661" MGI:3828086 RGD:9238526 613512 HGNC:33273 +HGNC:30804 ZBED8 zinc finger BED-type containing 8 protein-coding gene gene with protein product Approved 5q33.3 05q33.3 Buster3 C5orf54 chromosome 5 open reading frame 54 2009-03-06 2014-05-12 2016-02-12 2016-02-12 63920 ENSG00000221886 OTTHUMG00000163554 NM_022090 CCDS34283 Q8IZ13 "10607616|23533661" MGI:1919220 615253 HGNC:30804 "ENST00000408953.4|NM_022090.5" +HGNC:13851 ZBED9 zinc finger BED-type containing 9 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZFP38-L|KIAA1925|FLJ31087|Buster4" "ZNF305P2|ZNF452|SCAND3" "zinc finger protein 305 pseudogene 2|zinc finger protein 452|SCAN domain containing 3" SCAN domain containing 42 2003-05-20 2014-05-12 2016-02-12 2021-04-27 114821 ENSG00000232040 OTTHUMG00000016237 AB067512 NM_052923 "CCDS87376|CCDS34355" Q6R2W3 "23533661|23550032" 615254 HGNC:13851 "ENST00000452236.3|NM_052923.2" +HGNC:55596 ZBED9-AS1 ZBED9 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Antisense RNAs 1987 2021-04-30 2021-04-30 121676925 ENSG00000246350 +HGNC:42037 ZBED9P1 ZBED9 pseudogene 1 pseudogene pseudogene Approved 13q13.3 13q13.3 SCAND3P1 SCAN domain containing 3 pseudogene 1 2011-06-01 2021-03-24 2021-03-24 2021-03-24 100873886 ENSG00000232795 OTTHUMG00000016721 NG_028156 HGNC:42037 +HGNC:21720 ZBED10P zinc finger BED-type containing 10, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 "C7orf29|ZBED6CL" "chromosome 7 open reading frame 29|ZBED6 C-terminal like" 2003-07-14 2021-09-28 2021-09-28 2021-10-07 113763 ENSG00000188707 OTTHUMG00000158328 BC011406 NR_173326 CCDS5900 Q96FA7 23533661 615252 HGNC:21720 +HGNC:16176 ZBP1 Z-DNA binding protein 1 protein-coding gene gene with protein product Approved 20q13.31 20q13.31 "dJ718J7.3|DLM1|DLM-1|DAI" DNA-dependent activator of IRFs C20orf183 chromosome 20 open reading frame 183 2001-07-17 2002-07-26 2002-07-25 2014-11-18 81030 ENSG00000124256 OTTHUMG00000032824 uc002xyo.4 AJ300575 NM_030776 "CCDS54477|CCDS54478|CCDS13461" Q9H171 11842111 MGI:1927449 RGD:619956 606750 HGNC:16176 "ENST00000371173.8|NM_030776.3" +HGNC:20259 ZBTB1 zinc finger and BTB domain containing 1 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 "KIAA0997|ZNF909" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-01-15 2021-04-27 22890 ENSG00000126804 OTTHUMG00000171147 uc001xhh.5 AB023214 NM_001123329 "CCDS45126|CCDS32097" Q9Y2K1 10231032 MGI:2442326 RGD:1303095 616578 HGNC:20259 "ENST00000683701.1|NM_001123329.2" +HGNC:20868 ZBTB2 zinc finger and BTB domain containing 2 protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "KIAA1483|ZNF437|bA351K16.2" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-04-16 2021-04-27 57621 ENSG00000181472 OTTHUMG00000015834 uc003qoh.4 BC020172 NM_020861 CCDS5231 Q8N680 10819331 MGI:2685949 RGD:1306621 616595 HGNC:20868 "ENST00000325144.5|NM_020861.3" +HGNC:54544 ZBTB2P1 ZBTB2 pseudogene 1 pseudogene pseudogene Approved 1p36.21 01p36.21 2019-10-11 2019-10-11 100421184 ENSG00000278480 NG_027066 HGNC:54544 +HGNC:22918 ZBTB3 zinc finger and BTB domain containing 3 protein-coding gene gene with protein product Approved 11q12.3 11q12.3 FLJ23392 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-07-23 2020-04-01 79842 ENSG00000185670 OTTHUMG00000167608 uc001nuz.4 AK027045 NM_024784 CCDS8034 Q9H5J0 MGI:1922541 RGD:1561140 HGNC:22918 "ENST00000394807.5|NM_001370809.1" +HGNC:23847 ZBTB4 zinc finger and BTB domain containing 4 protein-coding gene gene with protein product Approved 17p13.1 17p13.1 "KIAA1538|KAISO-L1|ZNF903" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-15 2021-04-27 57659 ENSG00000174282 OTTHUMG00000108137 uc002ghd.5 AB040971 NM_020899 CCDS11107 Q9P1Z0 "16354688|25499219" MGI:1922830 RGD:1307184 612308 HGNC:23847 "ENST00000380599.9|NM_001128833.2" +HGNC:23836 ZBTB5 zinc finger and BTB domain containing 5 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 KIAA0354 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-15 2016-10-05 9925 ENSG00000168795 OTTHUMG00000019918 uc003zzx.4 AB002352 NM_014872 CCDS6610 O15062 9205841 MGI:1924601 RGD:1307367 616590 HGNC:23836 "ENST00000307750.5|NM_014872.3" +HGNC:16764 ZBTB6 zinc finger and BTB domain containing 6 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 ZID ZNF482 zinc finger protein 482 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-15 2006-04-10 2006-04-10 2021-04-27 10773 ENSG00000186130 OTTHUMG00000020628 uc004bnh.5 X82018 NM_006626 CCDS6846 Q15916 7958847 MGI:2442998 RGD:1306007 605976 HGNC:16764 "ENST00000373659.4|NM_006626.6" +HGNC:18078 ZBTB7A zinc finger and BTB domain containing 7A protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "FBI-1|LRF|DKFZp547O146|pokemon|ZNF857A" "zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein|lymphoma related factor|POK erythroid myeloid ontogenic factor" ZBTB7 zinc finger and BTB domain containing 7 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-01-16 2005-04-07 2021-04-27 51341 ENSG00000178951 OTTHUMG00000181792 uc002lzi.4 AF000561 NM_015898 CCDS12119 O95365 "9973611|9927193" MGI:1335091 RGD:620946 605878 HGNC:18078 "ENST00000322357.9|NM_015898.4" HGNC:18078 +HGNC:18668 ZBTB7B zinc finger and BTB domain containing 7B protein-coding gene gene with protein product Approved 1q21.3 01q21.3 "ZBTB15|c-Krox|hcKrox|ZNF857B" zinc finger and BTB domain containing 15 ZFP67 zinc finger protein 67 homolog (mouse) "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2002-05-23 2005-04-07 2021-04-27 51043 ENSG00000160685 OTTHUMG00000037414 uc031ppr.2 AF007833 NM_015872 "CCDS58030|CCDS1081" O15156 "9370309|7937772" MGI:102755 RGD:1305963 607646 HGNC:18668 "ENST00000535420.6|NM_001256455.2" +HGNC:31700 ZBTB7C zinc finger and BTB domain containing 7C protein-coding gene gene with protein product Approved 18q21.1 18q21.1 ZNF857C ZBTB36 zinc finger and BTB domain containing 36 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-01-07 2005-04-07 2021-04-27 201501 ENSG00000184828 OTTHUMG00000180322 uc010dnw.4 Y14591 NM_001039360 CCDS32830 A1YPR0 MGI:2443302 RGD:1591841 616591 HGNC:31700 "ENST00000590800.6|NM_001318841.2" +HGNC:55846 ZBTB7C-AS1 ZBTB7C antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 Antisense RNAs 1987 2021-08-13 2021-08-13 105372104 ENSG00000286583 XR_001753437 +HGNC:24918 ZBTB7C-AS2 ZBTB7C antisense RNA 2 non-coding RNA RNA, long non-coding Approved 18q21.1 18q21.1 "HEIL1|HsT2508" C18orf12 chromosome 18 open reading frame 12 Antisense RNAs 1987 2004-01-21 2021-08-13 2021-08-13 2021-08-13 84322 ENSG00000280197 OTTHUMG00000180217 uc060ozi.1 AB027121 NR_172886 HGNC:24918 +HGNC:24172 ZBTB8A zinc finger and BTB domain containing 8A protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "BOZF1|FLJ90065|ZNF916A" ZBTB8 zinc finger and BTB domain containing 8 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-16 2009-03-25 2009-03-25 2021-04-27 653121 ENSG00000160062 OTTHUMG00000007855 uc001bvn.4 AF548353 NM_144621 "CCDS76133|CCDS30664" Q96BR9 23329847 MGI:1920930 RGD:1308756 618742 HGNC:24172 "ENST00000373510.9|NM_001040441.3" +HGNC:37057 ZBTB8B zinc finger and BTB domain containing 8B protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "RP1-27O5.1|DKFZp547H154|ZNF916B" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2009-03-25 2021-04-27 728116 ENSG00000273274 OTTHUMG00000167087 uc001bvl.5 AL442095 NM_001145720 CCDS44104 Q8NAP8 MGI:2387181 RGD:1562327 HGNC:37057 "ENST00000609129.2|NM_001145720.2" +HGNC:24094 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand protein-coding gene gene with protein product Approved 1p35.1 01p35.1 ARCH archease tRNA splicing ligase complex 1345 2005-04-08 2018-02-22 339487 ENSG00000176261 OTTHUMG00000007856 uc001bvp.4 AY151084 NM_178547 "CCDS81292|CCDS76134" Q8IWT0 24870230 MGI:1914356 RGD:1562249 615891 HGNC:24094 "ENST00000468695.6|NM_178547.5" +HGNC:19043 ZBTB8OSP1 zinc finger and BTB domain containing 8 opposite strand pseudogene 1 pseudogene pseudogene Approved 4q31.3 04q31.3 2010-09-30 2014-11-19 729566 ENSG00000183432 OTTHUMG00000161446 NG_032855 PGOHUM00000250797 HGNC:19043 +HGNC:30326 ZBTB8OSP2 zinc finger and BTB domain containing 8 opposite strand pseudogene 2 pseudogene pseudogene Approved 2q37.1 02q37.1 2010-09-30 2014-11-19 729898 ENSG00000172799 OTTHUMG00000153872 NG_028934 PGOHUM00000240548 HGNC:30326 +HGNC:28323 ZBTB9 zinc finger and BTB domain containing 9 protein-coding gene gene with protein product Approved 6p21.32 06p21.32 "MGC23166|ZNF919" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-01-23 2021-04-27 221504 ENSG00000213588 OTTHUMG00000140180 uc003oeq.4 AK122644 NM_152735 CCDS4780 Q96C00 12477932 MGI:1918022 RGD:1303050 HGNC:28323 "ENST00000395064.3|NM_152735.4" +HGNC:30953 ZBTB10 zinc finger and BTB domain containing 10 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "RINZF|FLJ12752" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-01-23 2019-03-21 65986 ENSG00000205189 OTTHUMG00000155016 uc064nyh.1 AK022814 NM_023929 "CCDS47880|CCDS64920" Q96DT7 "21156786|30629181" MGI:2139883 RGD:708377 618576 HGNC:30953 "ENST00000455036.8|NM_001105539.3" +HGNC:16740 ZBTB11 zinc finger and BTB domain containing 11 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 "ZNF-U69274|ZNF913" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-04-15 2021-04-27 27107 ENSG00000066422 OTTHUMG00000159133 uc003dve.5 U69274 NM_014415 CCDS2943 O95625 MGI:2443876 RGD:1308275 618181 HGNC:16740 "ENST00000312938.5|NM_014415.4" HGNC:16740 +HGNC:48573 ZBTB11-AS1 ZBTB11 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q12.3 03q12.3 Antisense RNAs 1987 2013-05-17 2019-11-27 100009676 ENSG00000256628 OTTHUMG00000159176 NR_024407 ZBTB11-AS1 HGNC:48573 +HGNC:19066 ZBTB12 zinc finger and BTB domain containing 12 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 "G10|NG35|D6S59E" C6orf46 chromosome 6 open reading frame 46 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2002-08-13 2004-04-16 2004-04-15 2016-10-05 221527 ENSG00000204366 OTTHUMG00000031169 uc003nyd.2 BC043609 NM_181842 CCDS4727 Q9Y330 9545376 MGI:88133 RGD:1302958 HGNC:19066 "ENST00000375527.3|NM_181842.3" +HGNC:37702 ZBTB12BP zinc finger and BTB domain containing 12B, pseudogene pseudogene pseudogene Approved 4p14 04p14 ZNF920 "ZBTB12B|ZBTB12P1" "zinc finger and BTB domain containing 12B|zinc finger and BTB domain containing 12 pseudogene 1" 2010-01-26 2015-10-30 2015-10-30 2021-04-27 100499252 ENSG00000180610 OTTHUMG00000160580 NG_023432 PGOHUM00000250704 HGNC:37702 +HGNC:12860 ZBTB14 zinc finger and BTB domain containing 14 protein-coding gene gene with protein product Approved 18p11.31 18p11.31 ZNF478 ZFP161 "zinc finger protein 161 homolog (mouse)|zinc finger protein 161|ZFP161 zinc finger protein" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1996-12-20 2013-01-08 2013-01-08 2021-04-27 7541 ENSG00000198081 OTTHUMG00000131563 uc021ugn.2 D89859 NM_003409 CCDS11837 O43829 9244432 MGI:1195345 RGD:628712 602126 HGNC:12860 "ENST00000651870.1|NM_001243702.2" +HGNC:12930 ZBTB16 zinc finger and BTB domain containing 16 protein-coding gene gene with protein product Approved 11q23.2 11q23.2 PLZF promyelocytic leukaemia zinc finger ZNF145 zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia) "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1993-11-01 2004-07-16 2004-07-16 2021-04-27 7704 ENSG00000109906 OTTHUMG00000168243 uc001pop.4 Z19002 NM_006006 CCDS8367 Q05516 MGI:103222 RGD:727921 ZBTB16 176797 391986 HGNC:12930 "ENST00000335953.9|NM_006006.6" HGNC:12930 +HGNC:12936 ZBTB17 zinc finger and BTB domain containing 17 protein-coding gene gene with protein product Approved 1p36.13 01p36.13 "MIZ1|pHZ-67" "ZNF151|ZNF60" "zinc finger protein 151 (pHZ-67)|zinc finger protein 60" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1994-03-16 2004-07-16 2004-07-16 2021-04-27 7709 ENSG00000116809 OTTHUMG00000009377 uc001axl.5 U20647 NM_003443 "CCDS165|CCDS72712|CCDS55576" Q13105 MGI:107410 RGD:1307143 604084 HGNC:12936 "ENST00000375743.9|NM_003443.3" +HGNC:13030 ZBTB18 zinc finger and BTB domain containing 18 protein-coding gene gene with protein product Approved 1q44 01q44 "C2H2-171|TAZ-1|RP58" ZNF238 zinc finger protein 238 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1998-11-19 2013-01-09 2013-01-09 2021-04-27 10472 ENSG00000179456 OTTHUMG00000040013 uc001iad.6 U38896 NM_205768 CCDS1622 Q99592 "9568537|9013868" MGI:1353609 RGD:621548 608433 370418 HGNC:13030 "ENST00000358704.4|NM_205768.3" HGNC:13030 +HGNC:13503 ZBTB20 zinc finger and BTB domain containing 20 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 "ODA-8S|DKFZp566F123|DPZF" ZNF288 zinc finger protein 288 "Zinc fingers C2H2-type|BTB domain containing|MicroRNA protein coding host genes" "28|861|1691" 2001-06-25 2004-07-16 2004-07-16 2021-05-26 26137 ENSG00000181722 OTTHUMG00000159366 uc003ebn.5 AF139460 NM_015642 "CCDS54626|CCDS2981" Q9HC78 "10965110|11352661" MGI:1929213 RGD:1560387 606025 410685 HGNC:13503 "ENST00000675478.1|NM_001348800.3" HGNC:13503 +HGNC:40640 ZBTB20-AS1 ZBTB20 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 ZBTB20 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 100131117 ENSG00000241560 OTTHUMG00000159368 uc003ebo.3 NR_038993 ZBTB20-AS1 HGNC:40640 +HGNC:42421 ZBTB20-AS2 ZBTB20 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 ZBTB20 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-18 100506673 ENSG00000241295 OTTHUMG00000159363 uc062mrj.1 ZBTB20-AS2 +HGNC:42422 ZBTB20-AS3 ZBTB20 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 ZBTB20 antisense RNA 3 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2014-11-19 104413890 ENSG00000239946 OTTHUMG00000159365 uc062mrl.1 NR_126422 ZBTB20-AS3 HGNC:42422 +HGNC:42423 ZBTB20-AS4 ZBTB20 antisense RNA 4 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 ZBTB20 antisense RNA 4 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2021-06-23 100874131 ENSG00000242767 OTTHUMG00000159364 uc062mrn.1 NR_046877 ZBTB20-AS4 HGNC:42423 +HGNC:52841 ZBTB20-AS5 ZBTB20 antisense RNA 5 non-coding RNA RNA, long non-coding Approved 3q13.31 03q13.31 Antisense RNAs 1987 2016-12-12 2016-12-12 101929754 ENSG00000242290 OTTHUMG00000159367 NR_121661 HGNC:52841 +HGNC:13083 ZBTB21 zinc finger and BTB domain containing 21 protein-coding gene gene with protein product Approved 21q22.3 21q22.3 KIAA1227 ZNF295 zinc finger protein 295 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2000-03-15 2013-01-09 2013-01-09 2021-04-27 49854 ENSG00000173276 OTTHUMG00000086789 uc002zab.5 AB033053 NM_020727 "CCDS13678|CCDS42934" Q9ULJ3 MGI:1927240 RGD:1310841 616485 HGNC:13083 "ENST00000310826.10|NM_001098402.2" +HGNC:13085 ZBTB22 zinc finger and BTB domain containing 22 protein-coding gene gene with protein product Approved 6p21.3 06p21.3 "BING1|ZNF297A|fruitless|fru|ZBTB22A" ZNF297 zinc finger protein 297 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2000-07-25 2006-04-12 2006-04-12 2021-04-27 9278 ENSG00000236104 OTTHUMG00000031110 uc011jax.3 Z97183 NM_001145338 CCDS4775 O15209 MGI:1931870 RGD:1359627 611439 HGNC:13085 "ENST00000431845.3|NM_005453.5" +HGNC:21143 ZBTB24 zinc finger and BTB domain containing 24 protein-coding gene gene with protein product Approved 6q21 06q21 "KIAA0441|BIF1|PATZ2" POZ (BTB) and AT hook containing zinc finger 2 ZNF450 zinc finger protein 450 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-05-20 2004-04-16 2004-04-15 2021-04-27 9841 ENSG00000112365 OTTHUMG00000015349 uc003ptl.2 AB007901 NM_014797 CCDS34509 O43167 9455477 MGI:3039618 RGD:1306951 LRG_326|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_326.xml 614064 268103 HGNC:21143 "ENST00000230122.4|NM_014797.3" HGNC:21143 +HGNC:55872 ZBTB24-DT ZBTB24 divergent transcript non-coding RNA RNA, long non-coding Approved 6q21 06q21 Divergent transcripts 1990 2021-09-08 2021-09-08 105377935 ENSG00000223537 XR_942855 +HGNC:13112 ZBTB25 zinc finger and BTB domain containing 25 protein-coding gene gene with protein product Approved 14q23.3 14q23.3 KUP "ZNF46|C14orf51" "zinc finger protein 46 (KUP)|chromosome 14 open reading frame 51" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1991-07-12 2005-05-22 2005-05-22 2021-04-27 7597 ENSG00000089775 OTTHUMG00000141310 uc001xhf.4 X16576 NM_006977 "CCDS76689|CCDS9765" P24278 MGI:99197 RGD:735076 194541 HGNC:13112 "ENST00000608382.6|NM_006977.5" +HGNC:23383 ZBTB26 zinc finger and BTB domain containing 26 protein-coding gene gene with protein product Approved 9q33.2 09q33.2 ZNF481 zinc finger protein 481 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-11-14 2004-04-16 2004-04-15 2021-04-27 57684 ENSG00000171448 OTTHUMG00000020627 uc004bnk.4 AB046792 NM_020924 CCDS6847 Q9HCK0 MGI:2444402 RGD:1308561 HGNC:23383 "ENST00000373656.4|NM_020924.4" +HGNC:16763 ZBTB32 zinc finger and BTB domain containing 32 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "TZFP|FAZF|FAXF|Rog|ZNF538" repressor of GATA "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-09-23 2021-04-27 27033 ENSG00000011590 OTTHUMG00000048118 uc060xgt.1 AF130255 NM_014383 CCDS12471 Q9Y2Y4 10572087 MGI:1891838 RGD:1584121 605859 HGNC:16763 "ENST00000392197.7|NM_014383.3" +HGNC:16682 ZBTB33 zinc finger and BTB domain containing 33 protein-coding gene gene with protein product Approved Xq24 Xq24 "ZNF-kaiso|kaiso|WUGSC:H_DJ525N14.1|KAISO|ZNF348" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-04-15 2021-04-27 10009 ENSG00000177485 OTTHUMG00000171159 uc004esn.2 BC042753 NM_006777 CCDS14596 Q86T24 MGI:1927290 RGD:1566309 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZBTB33 300329 HGNC:16682 "ENST00000557385.2|NM_001184742.2" +HGNC:31446 ZBTB34 zinc finger and BTB domain containing 34 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "KIAA1993|MGC24652|ZNF918" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-05-27 2021-04-27 403341 ENSG00000177125 OTTHUMG00000020694 uc064vtp.1 DQ227306 NM_001099270 CCDS48023 Q8NCN2 16718364 MGI:2685195 RGD:1596130 611692 HGNC:31446 +HGNC:28365 ZBTB37 zinc finger and BTB domain containing 37 protein-coding gene gene with protein product Approved 1q25.1 01q25.1 "MGC2629|ZNF908" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2004-08-25 2021-04-27 84614 ENSG00000185278 OTTHUMG00000037274 uc021pfb.2 AK057310 NM_032522 "CCDS86033|CCDS44278|CCDS1312" Q5TC79 12477932 MGI:2444467 RGD:1308731 HGNC:28365 +HGNC:26636 ZBTB38 zinc finger and BTB domain containing 38 protein-coding gene gene with protein product Approved 3q23 03q23 "FLJ35036|CIBZ|ZNF921|PPP1R171" protein phosphatase 1, regulatory subunit 171 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-04-12 2021-04-27 253461 ENSG00000177311 OTTHUMG00000160128 uc062olr.1 BC015444 NM_001080412 CCDS43157 Q8NAP3 "18375381|21188497|24726359" MGI:2442866 RGD:1310136 612218 HGNC:26636 "ENST00000321464.7|NM_001376113.1" +HGNC:29014 ZBTB39 zinc finger and BTB domain containing 39 protein-coding gene gene with protein product Approved 12q13.3 12q13.3 "KIAA0352|ZNF922" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-05-09 2021-04-27 9880 ENSG00000166860 OTTHUMG00000171007 uc001sml.3 AB002350 NM_014830 CCDS31839 O15060 9205841 MGI:2443316 RGD:1306532 619384 HGNC:29014 "ENST00000300101.3|NM_014830.3" +HGNC:29045 ZBTB40 zinc finger and BTB domain containing 40 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA0478|ZNF923" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-05-09 2021-04-27 9923 ENSG00000184677 OTTHUMG00000002897 uc001bft.2 AB007947 NM_014870 "CCDS81278|CCDS224" Q9NUA8 MGI:2682254 RGD:1309866 612106 HGNC:29045 "ENST00000375647.5|NM_014870.4" +HGNC:41493 ZBTB40-IT1 ZBTB40 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 ZBTB40 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874345 ENSG00000237200 OTTHUMG00000040025 uc057ddu.1 618485 ZBTB40-IT1 +HGNC:24819 ZBTB41 zinc finger and BTB domain containing 41 protein-coding gene gene with protein product Approved 1q31.3 01q31.3 "FRBZ1|FLJ36199|DKFZp686C06120|ZNF924" "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-05-12 2021-04-27 360023 ENSG00000177888 OTTHUMG00000036275 uc001gtx.2 NM_194314 CCDS30960 Q5SVQ8 MGI:2444487 RGD:1560834 HGNC:24819 "ENST00000367405.5|NM_194314.3" +HGNC:32550 ZBTB42 zinc finger and BTB domain containing 42 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 ZNF925 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2006-03-15 2021-04-27 100128927 ENSG00000179627 OTTHUMG00000170790 uc021sem.3 AX721091 NM_001137601 CCDS45174 B2RXF5 MGI:3644133 RGD:1582758 613915 471346 HGNC:32550 "ENST00000342537.8|NM_001137601.3" HGNC:32550 +HGNC:17908 ZBTB43 zinc finger and BTB domain containing 43 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 "KIAA0414|ZNF-X|FLJ22470|ZBTB22B" ZNF297B zinc finger protein 297B "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2002-01-29 2006-04-12 2006-04-12 2021-04-27 23099 ENSG00000169155 OTTHUMG00000020693 uc010mxf.4 AF049907 NM_001135776 CCDS6867 O43298 MGI:1919084 RGD:1310287 618676 HGNC:17908 "ENST00000373464.5|NM_014007.4" +HGNC:25001 ZBTB44 zinc finger and BTB domain containing 44 protein-coding gene gene with protein product Approved 11q24.3 11q24.3 "HSPC063|ZNF851" BTBD15 BTB (POZ) domain containing 15 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-03-13 2006-09-19 2006-09-19 2021-04-27 29068 ENSG00000196323 OTTHUMG00000165769 uc001qgb.5 AK024659 NM_014155 "CCDS44776|CCDS73415|CCDS73414" Q8NCP5 11042152 MGI:1925123 RGD:1308984 HGNC:25001 "ENST00000357899.9|NM_001301098.2" +HGNC:54265 ZBTB44-DT ZBTB44 divergent transcript non-coding RNA RNA, long non-coding Approved 11q24.3 11q24.3 Divergent transcripts 1990 2019-04-24 2019-04-24 646383 ENSG00000175773 NR_148980 HGNC:54265 +HGNC:23715 ZBTB45 zinc finger and BTB domain containing 45 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ14486 ZNF499 zinc finger protein 499 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-03 2006-09-19 2006-09-19 2021-04-27 84878 ENSG00000119574 OTTHUMG00000183545 uc002qtf.4 AK027392 NM_032792 CCDS12984 Q96K62 MGI:2685003 RGD:1310920 HGNC:23715 "ENST00000594051.6|NM_001316979.2" +HGNC:49227 ZBTB45P1 zinc finger and BTB domain containing 45 pseudogene 1 pseudogene pseudogene Approved 2q13 02q13 2013-10-10 2013-10-10 645129 ENSG00000225108 OTTHUMG00000154978 NG_011684 PGOHUM00000240247 HGNC:49227 +HGNC:49228 ZBTB45P2 zinc finger and BTB domain containing 45 pseudogene 2 pseudogene pseudogene Approved 2q13 02q13 2013-10-10 2013-10-10 729248 ENSG00000226065 OTTHUMG00000154955 NG_021578 PGOHUM00000240856 HGNC:49228 +HGNC:16094 ZBTB46 zinc finger and BTB domain containing 46 protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "FLJ13502|RINZF|BZEL" BTB-ZF protein expressed in effector lymphocytes "ZNF340|BTBD4" BTB (POZ) domain containing 4 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2001-07-17 2006-09-19 2006-09-19 2021-04-27 140685 ENSG00000130584 OTTHUMG00000033001 uc061ypq.1 AK131482 NM_025224 CCDS13538 Q86UZ6 MGI:1919397 RGD:1307408 614639 HGNC:16094 "ENST00000245663.9|NM_001369741.1" +HGNC:40753 ZBTB46-AS1 ZBTB46 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2014-06-13 2014-11-19 101928604 ENSG00000231208 OTTHUMG00000032990 NR_110081 ZBTB46-AS1 HGNC:40753 +HGNC:40752 ZBTB46-AS2 ZBTB46 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 20q13.33 20q13.33 Antisense RNAs 1987 2021-07-28 2021-07-28 122152329 ENSG00000229299 OTTHUMG00000032989 +HGNC:26955 ZBTB47 zinc finger and BTB domain containing 47 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 "KIAA1190|DKFZp434N0615" ZNF651 zinc finger protein 651 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2005-01-07 2006-09-19 2006-09-19 2021-04-27 92999 ENSG00000114853 OTTHUMG00000156207 uc003clu.3 AB033016 NM_145166 CCDS46805 Q9UFB7 10574461 MGI:2670992 RGD:1562434 HGNC:26955 "ENST00000232974.11|NM_145166.4" HGNC:26955 +HGNC:41174 ZBTB47-AS1 ZBTB47 and NKTR antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p22.1 03p22.1 Antisense RNAs 1987 2021-07-23 2021-07-23 101928323 ENSG00000230084 OTTHUMG00000156209 NR_125400 +HGNC:4930 ZBTB48 zinc finger and BTB domain containing 48 protein-coding gene gene with protein product Approved 1p36.31 01p36.31 "ZNF855|TZAP" telomeric zinc finger-associated protein HKR3 GLI-Kruppel family member HKR3 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1989-05-29 2006-09-20 2006-09-20 2021-04-27 3104 ENSG00000204859 OTTHUMG00000001438 uc001anx.5 BC013573 NM_005341 CCDS84 P10074 "2850480|8661141|28082411" MGI:2140248 RGD:1311581 165270 HGNC:4930 "ENST00000377674.9|NM_005341.4" +HGNC:19883 ZBTB49 zinc finger and BTB domain containing 49 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ38559 ZNF509 zinc finger protein 509 "Zinc fingers C2H2-type|BTB domain containing" "28|861" 2003-12-15 2010-01-26 2010-01-26 2021-04-27 166793 ENSG00000168826 OTTHUMG00000090325 uc003ghu.4 AK095878 NM_145291 CCDS3375 Q6ZSB9 25245946 MGI:1922329 RGD:1306733 616238 HGNC:19883 "ENST00000337872.9|NM_145291.4" +HGNC:24277 ZC2HC1A zinc finger C2HC-type containing 1A protein-coding gene gene with protein product Approved 8q21.13 08q21.13 CGI-62 "C8orf70|FAM164A" "chromosome 8 open reading frame 70|family with sequence similarity 164, member A" Zinc fingers C2HC-type 66 2005-09-22 2012-02-03 2016-02-12 2016-10-05 51101 ENSG00000104427 OTTHUMG00000164619 uc003ybd.4 NM_016010 CCDS6223 Q96GY0 10810093 MGI:1914556 RGD:1311970 HGNC:24277 "ENST00000263849.9|NM_016010.3" +HGNC:21174 ZC2HC1B zinc finger C2HC-type containing 1B protein-coding gene gene with protein product Approved 6q24.2 06q24.2 dJ468K18.5 "FAM164B|C6orf94" "family with sequence similarity 164, member B|chromosome 6 open reading frame 94" Zinc fingers C2HC-type 66 2003-11-26 2012-02-03 2016-02-12 2016-02-12 153918 ENSG00000118491 OTTHUMG00000015734 uc010khk.4 BC146950 NM_001013623 CCDS47495 Q5TFG8 MGI:1922372 RGD:2319701 HGNC:21174 "ENST00000237275.9|NM_001013623.3" +HGNC:20354 ZC2HC1C zinc finger C2HC-type containing 1C protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "C14orf140|FAM164C" "chromosome 14 open reading frame 140|family with sequence similarity 164, member C" Zinc fingers C2HC-type 66 2003-01-28 2012-02-03 2016-02-12 2016-02-12 79696 ENSG00000119703 OTTHUMG00000167439 uc001xrh.5 AK026746 NM_001042430 "CCDS45138|CCDS41972|CCDS81829" Q53FD0 MGI:1919600 RGD:1307122 HGNC:20354 "ENST00000524913.3|NM_024643.4" +HGNC:28972 ZC3H3 zinc finger CCCH-type containing 3 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA0150 ZC3HDC3 zinc finger CCCH-type domain containing 3 Zinc fingers CCCH-type 73 2004-01-30 2005-06-02 2005-06-02 2014-11-19 23144 ENSG00000014164 OTTHUMG00000165127 uc003yyd.3 D63484 NM_015117 CCDS6402 Q8IXZ2 8590280 MGI:2663721 RGD:1307276 618640 HGNC:28972 "ENST00000262577.6|NM_015117.3" +HGNC:17808 ZC3H4 zinc finger CCCH-type containing 4 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 KIAA1064 C19orf7 chromosome 19 open reading frame 7 "Zinc fingers CCCH-type|Armadillo like helical domain containing" "73|1492" 2001-12-14 2007-10-18 2007-10-18 2019-04-16 23211 ENSG00000130749 OTTHUMG00000183442 uc002pga.5 AB028987 NM_015168 CCDS42582 Q9UPT8 MGI:2682314 RGD:1596943 619498 HGNC:17808 "ENST00000253048.10|NM_015168.2" +HGNC:24762 ZC3H6 zinc finger CCCH-type containing 6 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 "FLJ41410|FLJ45877|KIAA2035" ZC3HDC6 zinc finger CCCH-type domain containing 6 Zinc fingers CCCH-type 73 2004-03-19 2005-06-02 2005-06-02 2016-10-05 376940 ENSG00000188177 OTTHUMG00000153286 uc002thq.2 AK123404 NM_198581 CCDS46393 P61129 MGI:1926001 RGD:1311061 HGNC:24762 "ENST00000409871.6|NM_198581.3" +HGNC:30959 ZC3H7A zinc finger CCCH-type containing 7A protein-coding gene gene with protein product Approved 16p13.13 16p13.13 "HSPC055|FLJ20318" "ZC3HDC7|ZC3H7" "zinc finger CCCH-type domain containing 7|zinc finger CCCH-type containing 7" "Zinc fingers CCCH-type|Tetratricopeptide repeat domain containing" "73|769" 2004-04-22 2005-06-08 2005-06-02 2016-10-05 29066 ENSG00000122299 OTTHUMG00000129825 uc002dbl.4 AF161540 NM_014153 CCDS10550 Q8IWR0 11042152 MGI:2445044 RGD:1311225 619819 HGNC:30959 "ENST00000355758.9|NM_014153.4" HGNC:30959 +HGNC:30869 ZC3H7B zinc finger CCCH-type containing 7B protein-coding gene gene with protein product Approved 22q13.2 22q13.2 "RoXaN|FLJ13787|DKFZp434K0920|KIAA1031" "Zinc fingers CCCH-type|Tetratricopeptide repeat domain containing" "73|769" 2005-06-08 2005-08-09 2014-11-19 23264 ENSG00000100403 OTTHUMG00000150969 uc003azw.5 NM_017590 CCDS14013 Q9UGR2 "10470851|11230166" MGI:1328310 RGD:1307064 618206 HGNC:30869 "ENST00000352645.5|NM_017590.6" +HGNC:30941 ZC3H8 zinc finger CCCH-type containing 8 protein-coding gene gene with protein product Approved 2q14.1 02q14.1 Fliz1 ZC3HDC8 zinc finger CCCH-type domain containing 8 Zinc fingers CCCH-type 73 2004-03-19 2005-06-02 2005-06-02 2019-03-21 84524 ENSG00000144161 OTTHUMG00000153270 uc061mze.1 AF334161 NM_032494 CCDS46392 Q8N5P1 "28254838|30041613" MGI:1930128 RGD:1310458 HGNC:30941 "ENST00000409573.7|NM_032494.3" +HGNC:25893 ZC3H10 zinc finger CCCH-type containing 10 protein-coding gene gene with protein product Approved 12q13.2 12q13.2 FLJ14451 ZC3HDC10 zinc finger CCCH-type domain containing 10 Zinc fingers CCCH-type 73 2005-05-06 2005-06-02 2005-06-02 2020-04-01 84872 ENSG00000135482 OTTHUMG00000170184 uc001sjp.2 BC018708 NM_032786 CCDS8903 Q96K80 18814840 MGI:2143670 RGD:1587846 HGNC:25893 "ENST00000257940.7|NM_032786.3" +HGNC:29093 ZC3H11A zinc finger CCCH-type containing 11A protein-coding gene gene with protein product Approved 1q32.1 01q32.1 KIAA0663 ZC3HDC11A zinc finger CCCH-type domain containing 11A "Zinc fingers CCCH-type|Transcription and export complex 1 subunits" "73|1348" 2005-05-06 2005-06-02 2005-06-02 2014-11-19 9877 ENSG00000058673 OTTHUMG00000035909 uc001had.4 NM_014827 CCDS30978 O75152 9734811 MGI:1917829 RGD:1308290 613513 HGNC:29093 "ENST00000367210.3|NM_001376342.1" +HGNC:25659 ZC3H11B zinc finger CCCH-type containing 11B protein-coding gene gene with protein product Approved 1q41 01q41 ZC3HDC11B zinc finger CCCH-type containing 11B pseudogene Zinc fingers CCCH-type 73 2005-05-06 2005-06-02 2017-08-14 2020-04-20 643136 ENSG00000215817 OTTHUMG00000037436 NM_001355457 CCDS86051 A0A1B0GTU1 HGNC:25659 +HGNC:26259 ZC3H12A zinc finger CCCH-type containing 12A protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ23231|MCPIP1|Regnase-1" MCP induced protein 1 "Zinc fingers CCCH-type|MicroRNA protein coding host genes" "73|1691" 2005-06-03 2020-03-09 80149 ENSG00000163874 OTTHUMG00000004221 uc001cbb.5 NM_025079 CCDS417 Q5D1E8 "18178554|22055188|30988100" MGI:2385891 RGD:1306776 610562 HGNC:26259 "ENST00000373087.7|NM_025079.3" +HGNC:49453 ZC3H12A-DT ZC3H12A divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 LOC728431 LINC01137 long intergenic non-protein coding RNA 1137 Divergent transcripts 1990 2013-12-03 2021-07-12 2021-07-12 2021-07-12 728431 ENSG00000233621 OTTHUMG00000004224 NR_038842 25700553 LINC01137 HGNC:49453 +HGNC:17407 ZC3H12B zinc finger CCCH-type containing 12B protein-coding gene gene with protein product Approved Xq11.2-q12 Xq11.2-q12 MCPIP2 MCP induced protein 2 CXorf32 chromosome X open reading frame 32 Zinc fingers CCCH-type 73 2004-08-16 2005-06-14 2005-06-14 2020-04-02 340554 ENSG00000102053 OTTHUMG00000021719 uc010nko.3 BX647241 NM_001010888 CCDS48131 Q5HYM0 18178554 MGI:2442133 RGD:1560891 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZC3H12B 300889 HGNC:17407 HGNC:17407 +HGNC:29362 ZC3H12C zinc finger CCCH-type containing 12C protein-coding gene gene with protein product Approved 11q22.3 11q22.3 "KIAA1726|MCPIP3" MCP induced protein 3 Zinc fingers CCCH-type 73 2005-06-14 2012-07-05 85463 ENSG00000149289 OTTHUMG00000166572 uc010rwd.3 NM_033390 CCDS44727 Q9C0D7 "11214970|18178554" MGI:3026959 RGD:1565078 615001 HGNC:29362 "ENST00000278590.8|NM_033390.2" +HGNC:21175 ZC3H12D zinc finger CCCH-type containing 12D protein-coding gene gene with protein product Approved 6q25.1 06q25.1 "dJ281H8.1|MCPIP4" MCP induced protein 4 C6orf95 chromosome 6 open reading frame 95 Zinc fingers CCCH-type 73 2003-11-26 2005-06-30 2005-06-30 2015-08-24 340152 ENSG00000178199 OTTHUMG00000015786 uc010kid.4 NM_207360 CCDS47500 A2A288 18178554 MGI:3045313 RGD:1597152 611106 HGNC:21175 "ENST00000409806.8|NM_207360.3" +HGNC:20368 ZC3H13 zinc finger CCCH-type containing 13 protein-coding gene gene with protein product Approved 13q14.13 13q14.13 "DKFZp434D1812|Xio" KIAA0853 KIAA0853 "Zinc fingers CCCH-type|WTAP complex" "73|1420" 2003-11-21 2006-05-15 2006-05-15 2018-04-20 23091 ENSG00000123200 OTTHUMG00000016863 uc001vas.3 AB020660 NM_015070 "CCDS9400|CCDS81766" Q5T200 10048485 MGI:1914552 RGD:1307729 616453 HGNC:20368 "ENST00000679008.1|NM_001330564.2" +HGNC:20509 ZC3H14 zinc finger CCCH-type containing 14 protein-coding gene gene with protein product Approved 14q31.3 14q31.3 "FLJ11806|UKp68|NY-REN-37" Zinc fingers CCCH-type 73 2006-05-15 2014-11-19 79882 ENSG00000100722 OTTHUMG00000170803 uc001xww.4 AF155107 NM_024824 "CCDS55938|CCDS86418|CCDS32133|CCDS32134|CCDS32135|CCDS32136|CCDS86417" Q6PJT7 10508479 MGI:1919824 RGD:621850 613279 285406 HGNC:20509 "ENST00000251038.10|NM_024824.5" HGNC:20509 +HGNC:29528 ZC3H15 zinc finger CCCH-type containing 15 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 LEREPO4 likely ortholog of mouse immediate early response, erythropoietin 4 Zinc fingers CCCH-type 73 2006-11-06 2014-11-19 55854 ENSG00000065548 OTTHUMG00000154251 uc002upo.4 NM_018471 CCDS42791 Q8WU90 10880228 MGI:1919747 RGD:1359234 619704 HGNC:29528 "ENST00000337859.11|NM_018471.3" +HGNC:25091 ZC3H18 zinc finger CCCH-type containing 18 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 NHN1 Zinc fingers CCCH-type 73 2007-11-13 2015-01-28 124245 ENSG00000158545 OTTHUMG00000137679 uc002fky.4 BC001584 NM_144604 "CCDS10967|CCDS73924" Q86VM9 17579712 MGI:1923264 RGD:1303257 HGNC:25091 "ENST00000301011.10|NM_144604.4" +HGNC:33799 ZC3H18-AS1 ZC3H18 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 FLJ45530 "C16orf85|LINC00859" "chromosome 16 open reading frame 85|long intergenic non-protein coding RNA 859" Antisense RNAs 1987 2007-12-14 2013-10-15 2013-10-15 2017-11-28 400555 AK127438 NR_146877 HGNC:33799 +HGNC:23721 ZC3HAV1 zinc finger CCCH-type containing, antiviral 1 protein-coding gene gene with protein product Approved 7q34 07q34 "ZAP|FLB6421|FLJ13288|MGC48898|ZC3HDC2|ZC3H2|PARP13|ARTD13" "zinc finger antiviral protein|CCCH-type zinc finger antiviral protein" "Zinc fingers CCCH-type|Poly(ADP-ribose) polymerases" "73|684" 2003-12-11 2016-02-12 2022-03-08 56829 ENSG00000105939 OTTHUMG00000157471 uc003vun.4 BX571742 NM_020119 "CCDS5851|CCDS55171" Q7Z2W4 "12215647|12851707|25635049" MGI:1926031 RGD:628694 607312 HGNC:23721 "ENST00000242351.10|NM_020119.4" +HGNC:22423 ZC3HAV1L zinc finger CCCH-type containing, antiviral 1 like protein-coding gene gene with protein product Approved 7q34 07q34 MGC14289 C7orf39 chromosome 7 open reading frame 39 2006-07-03 2016-02-12 2017-03-10 92092 ENSG00000146858 OTTHUMG00000157229 uc003vum.1 BC008842 NM_080660 CCDS5850 Q96H79 MGI:2443387 RGD:1309236 HGNC:22423 "ENST00000275766.2|NM_080660.4" +HGNC:29913 ZC3HC1 zinc finger C3HC-type containing 1 protein-coding gene gene with protein product Approved 7q32.2 07q32.2 NIPA nuclear interaction partner of ALK Zinc fingers 26 2004-11-19 2016-02-12 2016-02-12 51530 ENSG00000091732 OTTHUMG00000157648 uc003vpi.4 AF151050 NM_016478 "CCDS64767|CCDS75659|CCDS34753|CCDS87546" Q86WB0 11042152 MGI:1916023 RGD:1561099 619746 HGNC:29913 "ENST00000358303.9|NM_016478.5" +HGNC:24931 ZC4H2 zinc finger C4H2-type containing protein-coding gene gene with protein product Approved Xq11.2 Xq11.2 HCA127 "KIAA1166|WWS|MCS|MRXS4" "KIAA1166|Wieacker-Wolff syndrome|zinc finger, C4H2 domain containing|Miles-Carpenter X-linked mental retardation syndrome" Zinc fingers 26 2004-08-09 2008-10-01 2016-02-10 2020-04-02 55906 ENSG00000126970 OTTHUMG00000021712 uc004dvu.4 AF270491 NM_018684 "CCDS14380|CCDS55432|CCDS55431" Q9NQZ6 "10574461|12097419|23623388|26056227" MGI:2679294 RGD:1561708 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZC4H2 300897 353728 HGNC:24931 "ENST00000374839.8|NM_018684.4" HGNC:24931 +HGNC:22916 ZCCHC2 zinc finger CCHC-type containing 2 protein-coding gene gene with protein product Approved 18q21.33 18q21.33 "FLJ20281|KIAA1744|FLJ20222" C18orf49 chromosome 18 open reading frame 49 Zinc fingers CCHC-type 74 2003-07-23 2016-02-12 2016-02-12 54877 ENSG00000141664 OTTHUMG00000180165 uc002lip.5 AB051531 NM_017742 CCDS45880 Q9C0B9 11214970 MGI:2444114 RGD:1310626 HGNC:22916 "ENST00000269499.10|NM_017742.6" +HGNC:16230 ZCCHC3 zinc finger CCHC-type containing 3 protein-coding gene gene with protein product Approved 20p13 20p13 dJ1103G7.7 C20orf99 chromosome 20 open reading frame 99 Zinc fingers CCHC-type 74 2001-07-17 2004-07-14 2016-02-12 2016-02-12 85364 ENSG00000247315 OTTHUMG00000188280 uc032oxz.2 AL034548 NM_033089 CCDS42844 Q9NUD5 MGI:1915167 RGD:1585203 618326 HGNC:16230 "ENST00000500893.4|NM_033089.7" +HGNC:22917 ZCCHC4 zinc finger CCHC-type containing 4 protein-coding gene gene with protein product Approved 4p15.2 04p15.2 "HSPC052|FLJ23024|ZGRF4" zinc finger, GRF-type containing 4 "Zinc fingers CCHC-type|Zinc fingers GRF-type|7BS N6-adenosine DNA/RNA methyltransferases" "74|135|2061" 2003-08-14 2016-02-12 2016-10-05 29063 ENSG00000168228 OTTHUMG00000160563 uc003grl.5 AF161537 NM_001318148 CCDS43218 Q9H5U6 11042152 MGI:1926046 RGD:1311414 611792 HGNC:22917 "ENST00000302874.9|NM_024936.3" +HGNC:26209 ZCCHC7 zinc finger CCHC-type containing 7 protein-coding gene gene with protein product Approved 9p13.2 09p13.2 "FLJ22611|AIR1" Zinc fingers CCHC-type 74 2004-02-09 2016-02-12 2016-10-05 84186 ENSG00000147905 OTTHUMG00000019915 uc003zzq.4 AK026264 NM_032226 CCDS6608 Q8N3Z6 MGI:2442912 RGD:1310467 HGNC:26209 "ENST00000336755.10|NM_032226.3" +HGNC:25265 ZCCHC8 zinc finger CCHC-type containing 8 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 DKFZp434E2220 "Zinc fingers CCHC-type|Nuclear exosome targeting complex" "74|1316" 2004-02-17 2016-02-12 2020-04-01 55596 ENSG00000033030 OTTHUMG00000168878 uc284ngs.1 BC017704 NM_017612 CCDS86340 Q6NZY4 "16263084|21855801" MGI:1917900 RGD:1309774 616381 HGNC:25265 "ENST00000633063.3|NM_017612.5" HGNC:25265 +HGNC:25424 ZCCHC9 zinc finger CCHC-type containing 9 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "DKFZp761J139|PPP1R41" protein phosphatase 1, regulatory subunit 41 "Zinc fingers CCHC-type|Protein phosphatase 1 regulatory subunits" "74|694" 2004-02-17 2016-02-12 2016-02-12 84240 ENSG00000131732 OTTHUMG00000119014 uc063ezn.1 BC014841 NM_032280 CCDS4054 Q8N567 18721783 MGI:1916335 RGD:1307450 HGNC:25424 "ENST00000407610.8|NM_001131035.2" +HGNC:25954 ZCCHC10 zinc finger CCHC-type containing 10 protein-coding gene gene with protein product Approved 5q31.1 05q31.1 FLJ20094 Zinc fingers CCHC-type 74 2004-02-17 2016-02-12 2016-02-12 54819 ENSG00000155329 OTTHUMG00000129013 uc003kyg.4 BC005211 NM_017665 "CCDS4165|CCDS75301|CCDS78060|CCDS75300|CCDS75302|CCDS78059" Q8TBK6 12477932 MGI:1196228 RGD:1308149 HGNC:25954 "ENST00000509437.6|NM_001300816.3" +HGNC:27273 ZCCHC12 zinc finger CCHC-type containing 12 protein-coding gene gene with protein product Approved Xq24 Xq24 "FLJ16123|SIZN|SIZN1|PNMA7A" paraneoplastic Ma antigen family member 7A "Zinc fingers CCHC-type|Paraneoplastic Ma antigens" "74|671" 2004-07-14 2016-02-12 2016-02-12 170261 ENSG00000174460 OTTHUMG00000022261 uc004equ.4 AK122676 NM_173798 CCDS14574 Q6PEW1 "21739307|19578717" MGI:1919943 RGD:1359439 300701 471348 HGNC:27273 "ENST00000310164.3|NM_173798.4" +HGNC:31749 ZCCHC13 zinc finger CCHC-type containing 13 protein-coding gene gene with protein product Approved Xq13.2 Xq13.2 "4930513O09RIK|Cnbp2|ZNF9L" Zinc fingers CCHC-type 74 2004-08-19 2016-02-12 2020-04-02 389874 ENSG00000187969 OTTHUMG00000021851 uc004ebs.5 BC021176 NM_203303 CCDS14425 Q8WW36 MGI:1922314 RGD:1589760 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZCCHC13 HGNC:31749 "ENST00000339534.4|NM_203303.3" +HGNC:24134 ZCCHC14 zinc finger CCHC-type containing 14 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "BDG29|MGC14139" "Zinc fingers CCHC-type|Sterile alpha motif domain containing" "74|760" 2004-07-14 2016-02-12 2016-02-12 23174 ENSG00000140948 OTTHUMG00000137655 uc002fjz.2 AB011151 NM_015144 CCDS10961 Q8WYQ9 9628581 MGI:2159407 RGD:1309494 HGNC:24134 "ENST00000671377.2|NM_015144.3" +HGNC:52996 ZCCHC14-DT ZCCHC14 divergent transcript non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 Divergent transcripts 1990 2020-12-10 2020-12-10 101928737 ENSG00000288568 NR_110943 +HGNC:30246 ZCCHC17 zinc finger CCHC-type containing 17 protein-coding gene gene with protein product Approved 1p35.2 01p35.2 "PS1D|HSPC251|pNO40" Zinc fingers CCHC-type 74 2005-12-01 2016-02-12 2016-02-12 51538 ENSG00000121766 OTTHUMG00000003791 uc001bsp.3 AF151085 NM_016505 "CCDS341|CCDS60061|CCDS60062|CCDS72741|CCDS72742|CCDS72743|CCDS72744" Q9NP64 "12202495|12893261" MGI:1919955 RGD:1565267 619744 HGNC:30246 "ENST00000344147.10|NM_016505.4" +HGNC:32459 ZCCHC18 zinc finger CCHC-type containing 18 protein-coding gene gene with protein product Approved Xq22.2 Xq22.2 "SIZN2|PNMA7B" paraneoplastic Ma antigen family member 7B zinc finger, CCHC domain containing 12 pseudogene 1 "Zinc fingers CCHC-type|Paraneoplastic Ma antigens" "74|671" 2008-03-06 2016-02-12 2016-02-12 644353 ENSG00000166707 OTTHUMG00000022123 uc011msh.4 AF086548 NM_001143978 CCDS65304 P0CG32 MGI:1914245 HGNC:32459 "ENST00000650639.1|NM_001143978.3" +HGNC:26911 ZCCHC24 zinc finger CCHC-type containing 24 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "FLJ90798|Z3CXXC8" zinc finger, 3CxxC-type 8 C10orf56 chromosome 10 open reading frame 56 "Zinc fingers CCHC-type|Zinc fingers 3CxxC-type" "74|137" 2004-05-27 2008-06-23 2016-02-12 2016-02-12 219654 ENSG00000165424 OTTHUMG00000018561 uc001kak.4 AK075279 NM_153367 CCDS7359 Q8N2G6 12477932 MGI:1919168 RGD:1306164 HGNC:26911 "ENST00000372336.4|NM_153367.4" +HGNC:29620 ZCRB1 zinc finger CCHC-type and RNA binding motif containing 1 protein-coding gene gene with protein product Approved 12q12 12q12 "MADP-1|MADP1|RBM36|ZCCHC19|SNRNP31" U11/U12 snRNP 31K "Zinc fingers CCHC-type|RNA binding motif containing|U11/U12 di-snRNP|MicroRNA protein coding host genes" "74|725|1521|1691" 2006-01-25 2016-02-12 2016-11-09 85437 ENSG00000139168 OTTHUMG00000169382 uc001rmz.4 BC022543 NM_033114 CCDS8740 Q8TBF4 "15146077|16959469" MGI:1914447 RGD:1309851 610750 HGNC:29620 "ENST00000266529.8|NM_033114.4" +HGNC:54987 ZCRB1P1 ZCRB1 pseudogene 1 pseudogene pseudogene Approved Xq13.1 Xq13.1 2020-05-15 2020-05-15 100131556 ENSG00000224208 NG_022609 +HGNC:23486 ZCWPW1 zinc finger CW-type and PWWP domain containing 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "FLJ10057|DKFZp434N0510|ZCW1" zinc finger, CW-type with PWWP domain 1 "Zinc fingers CW-type|PWWP domain containing" "96|1147" 2003-11-24 2016-02-12 2020-06-09 55063 ENSG00000078487 OTTHUMG00000159537 uc003uut.5 AK000919 NM_017984 "CCDS43623|CCDS59067" Q9H0M4 "14607086|20826339" MGI:2685899 RGD:1305405 618900 HGNC:23486 "ENST00000684423.1|NM_001386010.1" +HGNC:23574 ZCWPW2 zinc finger CW-type and PWWP domain containing 2 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 ZCW2 zinc finger, CW type with PWWP domain 2 "Zinc fingers CW-type|PWWP domain containing" "96|1147" 2004-11-03 2016-02-12 2018-11-22 152098 ENSG00000206559 OTTHUMG00000155705 uc003ceh.4 BC065764 NM_001040432 CCDS33723 Q504Y3 14607086 MGI:1921888 RGD:1596709 HGNC:23574 "ENST00000383768.7|NM_001040432.4" +HGNC:29313 ZDBF2 zinc finger DBF-type containing 2 protein-coding gene gene with protein product Approved 2q33.3 02q33.3 "FLJ45338|KIAA1571" Zinc fingers DBF-type 75 2007-03-27 2016-02-12 2021-04-13 57683 ENSG00000204186 OTTHUMG00000154648 uc002vbp.4 AB046791 NM_020923 CCDS46501 Q9HCK1 10997877 MGI:1921134 RGD:1560005 LRG_1065|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1065.xml 617059 HGNC:29313 "ENST00000374423.9|NM_020923.3" HGNC:29313 +HGNC:17916 ZDHHC1 zinc finger DHHC-type containing 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "HSU90653|ZNF377" C16orf1 chromosome 16 open reading frame 1 Zinc fingers DHHC-type 76 2002-04-04 2016-02-12 2019-10-17 29800 ENSG00000159714 OTTHUMG00000137522 uc010vjm.3 U90653 NM_013304 CCDS10836 Q8WTX9 "10395086|23687301" MGI:1918046 RGD:1589775 HGNC:17916 "ENST00000565726.3|NM_001323627.2" +HGNC:18469 ZDHHC2 zinc finger DHHC-type palmitoyltransferase 2 protein-coding gene gene with protein product Approved 8p22 08p22 "ZNF372|DHHC2" zinc finger DHHC-type containing 2 Zinc fingers DHHC-type 76 2002-04-04 2019-08-28 2019-08-28 51201 ENSG00000104219 OTTHUMG00000163860 uc003wxe.4 AB023584 NM_016353 CCDS47810 Q9UIJ5 "20519516|10918388" MGI:1923452 RGD:628681 618621 HGNC:18469 "ENST00000262096.13|NM_016353.5" +HGNC:18470 ZDHHC3 zinc finger DHHC-type palmitoyltransferase 3 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "ZNF373|GODZ|DHHC3" golgi-specific DHHC Zinc Finger Protein zinc finger DHHC-type containing 3 Zinc fingers DHHC-type 76 2002-04-04 2019-10-16 2019-10-17 51304 ENSG00000163812 OTTHUMG00000133093 uc003cog.4 AF247703 NM_016598 "CCDS2724|CCDS87071|CCDS46811" Q9NYG2 "19001095|19955568" MGI:1926134 RGD:1309041 617150 HGNC:18470 "ENST00000424952.7|NM_001135179.2" +HGNC:18471 ZDHHC4 zinc finger DHHC-type palmitoyltransferase 4 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "FLJ10479|ZNF374" zinc finger DHHC-type containing 4 Zinc fingers DHHC-type 76 2002-04-04 2019-10-17 2019-10-17 55146 ENSG00000136247 OTTHUMG00000023579 uc064bil.1 AF201931 NM_018106 CCDS5352 Q9NPG8 "30605677|26535572" MGI:1920131 RGD:1308389 HGNC:18471 "ENST00000335965.11|NM_001134389.2" +HGNC:39443 ZDHHC4P1 zinc finger DHHC-type containing 4 pseudogene 1 pseudogene pseudogene Approved 13q14.11 13q14.11 2011-01-11 2016-02-15 2016-02-15 100420920 ENSG00000238025 OTTHUMG00000016812 NG_024919 PGOHUM00000248576 HGNC:39443 +HGNC:18472 ZDHHC5 zinc finger DHHC-type palmitoyltransferase 5 protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "KIAA1748|ZNF375|DHHC5" Zinc finger protein 375 zinc finger DHHC-type containing 5 Zinc fingers DHHC-type 76 2002-04-04 2019-10-17 2022-03-08 25921 ENSG00000156599 OTTHUMG00000167198 uc001nkx.2 AB051535 NM_015457 CCDS7965 Q9C0B5 "30605677|22081607|29185452|11214970|21820437" MGI:1923573 RGD:1589737 614586 2.3.1.225 HGNC:18472 "ENST00000287169.8|NM_015457.3" HGNC:18472 +HGNC:19160 ZDHHC6 zinc finger DHHC-type palmitoyltransferase 6 protein-coding gene gene with protein product Approved 10q25.2 10q25.2 "ZNF376|FLJ21952" zinc finger DHHC-type containing 6 Zinc fingers DHHC-type 76 2002-08-28 2019-10-17 2019-10-17 64429 ENSG00000023041 OTTHUMG00000019062 uc001kzv.3 AK025605 NM_022494 "CCDS7574|CCDS86144|CCDS76335" Q9H6R6 "31427815|31187393|28826475" MGI:1914230 RGD:1304657 618715 objectId:3188 HGNC:19160 "ENST00000369405.7|NM_022494.3" +HGNC:18459 ZDHHC7 zinc finger DHHC-type palmitoyltransferase 7 protein-coding gene gene with protein product Approved 16q24.1 16q24.1 "FLJ10792|ZNF370|FLJ20279|SERZ-B|SERZ1|DHHC7" Sertoli cell gene with zinc finger domain-β zinc finger DHHC-type containing 7 Zinc fingers DHHC-type 76 2002-04-04 2019-10-17 2019-10-17 55625 ENSG00000153786 OTTHUMG00000137645 uc002fiq.3 AK000286 NM_017740 "CCDS10950|CCDS45538" Q9NXF8 "30158247|28196865|27380321" MGI:2142662 RGD:620205 614604 HGNC:18459 "ENST00000313732.9|NM_017740.3" +HGNC:18474 ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "ZNF378|KIAA1292|DHHC8" Zinc finger protein 378 zinc finger DHHC-type containing 8 Zinc fingers DHHC-type 76 2002-04-05 2003-02-28 2019-10-17 2022-03-08 29801 ENSG00000099904 OTTHUMG00000150499 uc002zrq.4 AB033118 NM_013373 "CCDS13776|CCDS54502" Q9ULC8 "27365300|24068808|10574462|15184899" MGI:1338012 RGD:1308875 608784 2.3.1.225 HGNC:18474 "ENST00000334554.12|NM_013373.4" +HGNC:26461 ZDHHC8P1 ZDHHC8 pseudogene 1 pseudogene pseudogene Approved 22q11.23 22q11.23 FLJ31568 ZDHHC8P "zinc finger, DHHC-type containing 8 pseudogene|zinc finger DHHC-type containing 8 pseudogene 1" 2008-02-21 2010-02-25 2019-10-17 2019-10-17 150244 ENSG00000133519 OTTHUMG00000150650 NR_003950 PGOHUM00000246279 HGNC:26461 +HGNC:18475 ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "ZNF379|CGI-89|ZNF380|DHHC9" "Zinc finger protein 379|Zinc finger protein 380" "ZDHHC10|CXorf11" "zinc finger, DHHC-type containing 10|chromosome X open reading frame 11|zinc finger DHHC-type containing 9" Zinc fingers DHHC-type 76 2002-04-05 2019-10-17 2022-03-08 51114 ENSG00000188706 OTTHUMG00000022375 uc004euw.4 AF151847 NM_016032 CCDS35395 Q9Y397 "18827284|16000296|10810093|17436253|27481942" MGI:2444393 RGD:1561389 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZDHHC9 300646 159313 2.3.1.225 HGNC:18475 "ENST00000357166.11|NM_016032.4" HGNC:18475 +HGNC:19158 ZDHHC11 zinc finger DHHC-type containing 11 protein-coding gene gene with protein product Approved 5p15.33 05p15.33 "ZNF399|FLJ13153" Zinc fingers DHHC-type 76 2002-08-28 2016-02-15 2019-10-17 79844 ENSG00000188818 OTTHUMG00000090319 uc011cma.2 AK023215 NM_024786 CCDS3857 Q9H8X9 23687301 MGI:1918414 RGD:1564281 HGNC:19158 "ENST00000283441.13|NM_024786.3" +HGNC:32962 ZDHHC11B zinc finger DHHC-type containing 11B protein-coding gene gene with protein product Approved 5p15.33 05p15.33 Zinc fingers DHHC-type 76 2006-07-14 2016-02-15 2019-10-17 653082 ENSG00000206077 OTTHUMG00000162148 uc063bxb.1 NM_001351303 CCDS87287 P0C7U3 MGI:1918414 HGNC:32962 "ENST00000508859.8|NM_001351303.2" +HGNC:19159 ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "ZNF400|FLJ14524" zinc finger DHHC-type containing 12 Zinc fingers DHHC-type 76 2002-08-28 2019-10-17 2019-10-17 84885 ENSG00000160446 OTTHUMG00000020756 uc004bvy.4 AK027430 NM_032799 CCDS6909 Q96GR4 25025157 MGI:1913470 RGD:1306593 HGNC:19159 "ENST00000372663.9|NM_032799.5" +HGNC:55873 ZDHHC12-DT ZDHHC12 divergent transcript non-coding RNA RNA, long non-coding Approved 9q34.11 09q34.11 Divergent transcripts 1990 2021-09-08 2021-09-08 100506100 ENSG00000223478 NR_046240 +HGNC:18413 ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 "FLJ10852|FLJ10941|HIP14L" zinc finger DHHC-type containing 13 "Zinc fingers DHHC-type|Ankyrin repeat domain containing" "76|403" 2004-05-07 2019-10-17 2019-10-17 54503 ENSG00000177054 OTTHUMG00000166099 uc001mpi.4 AB024495 NM_019028 "CCDS44550|CCDS44551" Q8IUH4 "19299482|20548961|18794299" MGI:1919227 RGD:1309736 612815 HGNC:18413 "ENST00000446113.7|NM_019028.3" +HGNC:20341 ZDHHC14 zinc finger DHHC-type palmitoyltransferase 14 protein-coding gene gene with protein product Approved 6q25.3 06q25.3 "FLJ20984|NEW1CP" zinc finger DHHC-type containing 14 "Zinc fingers DHHC-type|MicroRNA protein coding host genes" "76|1691" 2003-01-27 2019-10-17 2019-10-17 79683 ENSG00000175048 OTTHUMG00000015896 uc003qqt.4 AF542388 NM_153746 "CCDS5252|CCDS47510" Q8IZN3 27481942 MGI:2653229 RGD:1565877 619295 HGNC:20341 "ENST00000359775.10|NM_024630.3" +HGNC:20342 ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 "FLJ31812|MRX91|DHHC15" Mental retardation, X-linked 91 zinc finger DHHC-type containing 15 Zinc fingers DHHC-type 76 2003-01-28 2019-10-17 2022-03-08 158866 ENSG00000102383 OTTHUMG00000021866 uc004ecg.4 AK056374 NM_144969 "CCDS14430|CCDS55454" Q96MV8 "18596047|19956733|28167757" MGI:1915336 RGD:1562075 300576 471350 2.3.1.225 HGNC:20342 "ENST00000373367.8|NM_144969.3" HGNC:20342 +HGNC:20714 ZDHHC16 zinc finger DHHC-type palmitoyltransferase 16 protein-coding gene gene with protein product Approved 10q24.1 10q24.1 APH2 zinc finger DHHC-type containing 16 Zinc fingers DHHC-type 76 2003-03-21 2019-10-17 2019-10-17 84287 ENSG00000171307 OTTHUMG00000018847 uc001knj.5 AF258563 NM_032327 "CCDS7462|CCDS7460|CCDS7461|CCDS7463|CCDS73176" Q969W1 "26644582|12021275|28826475" MGI:1921418 RGD:1591893 616750 HGNC:20714 "ENST00000393760.6|NM_198046.3" +HGNC:18412 ZDHHC17 zinc finger DHHC-type palmitoyltransferase 17 protein-coding gene gene with protein product Approved 12q21.2 12q21.2 "HIP14|HYPH|KIAA0946" zinc finger DHHC-type containing 17 "Zinc fingers DHHC-type|Ankyrin repeat domain containing" "76|403" 2004-07-14 2019-10-17 2019-10-17 23390 ENSG00000186908 OTTHUMG00000169917 uc001syk.2 AB023163 NM_015336 CCDS44946 Q8IUH5 "15603740|15489887|19139280|28757145|9700202|18794299" MGI:2445110 RGD:1595790 607799 HGNC:18412 "ENST00000426126.7|NM_015336.4" +HGNC:20712 ZDHHC18 zinc finger DHHC-type palmitoyltransferase 18 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 DKFZp667O2416 zinc finger DHHC-type containing 18 Zinc fingers DHHC-type 76 2003-03-21 2019-10-17 2019-10-17 84243 ENSG00000204160 OTTHUMG00000004092 uc001bnb.4 AK056427 NM_032283 CCDS30650 Q9NUE0 "15603741|27481942" MGI:3527792 RGD:1309334 HGNC:20712 "ENST00000374142.9|NM_032283.3" +HGNC:20713 ZDHHC19 zinc finger DHHC-type palmitoyltransferase 19 protein-coding gene gene with protein product Approved 3q29 03q29 MGC33345 zinc finger DHHC-type containing 19 Zinc fingers DHHC-type 76 2003-03-21 2019-10-17 2019-10-17 131540 ENSG00000163958 OTTHUMG00000133642 uc003fwc.4 BC022078 NM_144637 CCDS43190 Q8WVZ1 "20074548|30404808" MGI:2682948 RGD:1309014 618671 HGNC:20713 "ENST00000296326.8|NM_001039617.2" +HGNC:20749 ZDHHC20 zinc finger DHHC-type palmitoyltransferase 20 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "FLJ25952|DHHC20" zinc finger DHHC-type containing 20 Zinc fingers DHHC-type 76 2005-03-08 2019-10-17 2022-03-08 253832 ENSG00000180776 OTTHUMG00000017410 uc001uoa.4 AK090979 NM_153251 "CCDS73551|CCDS45017|CCDS81758" Q5W0Z9 "27153536|29079573" MGI:1923215 RGD:1305755 617972 2.3.1.225 HGNC:20749 "ENST00000400590.8|NM_001330059.2" +HGNC:39900 ZDHHC20-IT1 ZDHHC20 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 13q12.11 13q12.11 ZDHHC20 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-04-08 2015-02-25 2015-02-25 100874367 ENSG00000236953 OTTHUMG00000046192 uc058vvu.1 ZDHHC20-IT1 +HGNC:33456 ZDHHC20P1 zinc finger DHHC-type containing 20 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 OTTHUMG00000086707 2007-05-01 2016-02-15 2016-10-05 100048907 ENSG00000233916 OTTHUMG00000086707 NG_029279 PGOHUM00000243125 HGNC:33456 +HGNC:33457 ZDHHC20P2 zinc finger DHHC-type containing 20 pseudogene 2 pseudogene pseudogene Approved 6p21.33 06p21.33 OTTHUMG00000133740 2007-05-01 2016-02-15 2016-10-05 100048908 ENSG00000223702 OTTHUMG00000133740 NG_029280 PGOHUM00000243583 HGNC:33457 +HGNC:39775 ZDHHC20P3 zinc finger DHHC-type containing 20 pseudogene 3 pseudogene pseudogene Approved 11q13.4 11q13.4 2011-03-29 2016-02-15 2016-02-15 100874348 ENSG00000255460 OTTHUMG00000165440 NG_032357 PGOHUM00000242372 HGNC:39775 +HGNC:39776 ZDHHC20P4 zinc finger DHHC-type containing 20 pseudogene 4 pseudogene pseudogene Approved 13q21.33 13q21.33 2011-03-29 2016-02-15 2016-02-15 730239 ENSG00000232380 OTTHUMG00000017050 NG_011414 PGOHUM00000248624 HGNC:39776 +HGNC:20750 ZDHHC21 zinc finger DHHC-type palmitoyltransferase 21 protein-coding gene gene with protein product Approved 9p22.3 09p22.3 "HSPC097|DNZ1|DHHC21" zinc finger DHHC-type containing 21 Zinc fingers DHHC-type 76 2004-02-06 2019-10-17 2019-10-17 340481 ENSG00000175893 OTTHUMG00000019573 uc003zlh.3 AF161360 NM_178566 CCDS6475 Q8IVQ6 "19956733|22031296|26715683|27653213" MGI:1915518 RGD:1305750 614605 HGNC:20750 "ENST00000380916.9|NM_178566.6" +HGNC:20106 ZDHHC22 zinc finger DHHC-type palmitoyltransferase 22 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 C14orf59 "chromosome 14 open reading frame 59|zinc finger DHHC-type containing 22" Zinc fingers DHHC-type 76 2003-01-13 2004-03-10 2019-10-17 2019-10-17 283576 ENSG00000177108 OTTHUMG00000171575 uc010asp.3 AK095612 NM_174976 CCDS45140 Q8N966 22399288 MGI:2685108 RGD:1308446 HGNC:20106 "ENST00000319374.4|NM_174976.2" +HGNC:28654 ZDHHC23 zinc finger DHHC-type palmitoyltransferase 23 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 MGC42530 zinc finger DHHC-type containing 23 Zinc fingers DHHC-type 76 2004-03-05 2019-10-17 2019-10-17 254887 ENSG00000184307 OTTHUMG00000159335 uc003eau.4 AK127025 NM_173570 "CCDS33827|CCDS87122" Q8IYP9 22399288 MGI:2685625 RGD:1303254 617334 HGNC:28654 "ENST00000638807.2|NM_001320466.2" +HGNC:27387 ZDHHC24 zinc finger DHHC-type containing 24 protein-coding gene gene with protein product Approved 11q13.2 11q13.2 Zinc fingers DHHC-type 76 2005-03-14 2016-02-15 2020-04-01 254359 ENSG00000174165 OTTHUMG00000167096 uc001oin.2 BC005015 NM_207340 "CCDS86218|CCDS8143" Q6UX98 MGI:1917855 RGD:1565630 HGNC:27387 "ENST00000310442.5|NM_207340.3" +HGNC:11642 ZEB1 zinc finger E-box binding homeobox 1 protein-coding gene gene with protein product Approved 10p11.22 10p11.22 "BZP|ZEB|AREB6|NIL-2-A|Zfhep|Zfhx1a|FECD6" "TCF8|PPCD3" "transcription factor 8 (represses interleukin 2 expression)|posterior polymorphous corneal dystrophy 3" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1991-12-17 2007-02-15 2007-02-15 2021-05-26 6935 ENSG00000148516 OTTHUMG00000017907 uc001ivs.5 AK091478 NM_030751 "CCDS7169|CCDS53507|CCDS53505|CCDS44370|CCDS53506" P37275 "1427828|1840704|15384081|16252232" MGI:1344313 RGD:3831 189909 8618 120584 HGNC:11642 "ENST00000424869.6|NM_001174096.2" HGNC:11642 +HGNC:42354 ZEB1-AS1 ZEB1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 ZEB1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-06-30 2012-08-15 2020-04-20 220930 ENSG00000237036 OTTHUMG00000017905 uc057soa.1 NR_024284 "26617942|28075045|27829995" MGI:3642044 616915 ZEB1-AS1 HGNC:42354 +HGNC:14881 ZEB2 zinc finger E-box binding homeobox 2 protein-coding gene gene with protein product Approved 2q22.3 02q22.3 "KIAA0569|SIP-1|SIP1" SMAD interacting protein 1 ZFHX1B zinc finger homeobox 1b "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 2001-03-14 2007-02-15 2007-02-15 2021-05-26 9839 ENSG00000169554 OTTHUMG00000187624 uc002tvu.4 AB011141 NM_014795 "CCDS2186|CCDS54403" O60315 MGI:1344407 RGD:1307272 605802 8619 120593 HGNC:14881 "ENST00000627532.3|NM_014795.4" HGNC:14881 +HGNC:37149 ZEB2-AS1 ZEB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 2q22.3 02q22.3 ZEB2NAT ZEB2 natural antisense transcript "ZEB2AS|ZEB2-AS" "ZEB2 antisense RNA (non-protein coding)|ZEB2 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2009-08-30 2010-11-25 2012-08-15 2016-12-16 100303491 ENSG00000238057 OTTHUMG00000153879 uc061ohe.1 NR_040248 "18347095|26152796" RGD:9273023 zeb2nat ZEB2-AS1 HGNC:37149 +HGNC:33346 ZEB2P1 zinc finger E-box binding homeobox 2 pseudogene 1 pseudogene pseudogene Approved 4p15.32 04p15.32 ZEB1P1 ZF class homeoboxes and pseudogenes 529 2007-02-15 2007-03-08 2007-03-08 2020-04-20 100420926 ENSG00000249506 OTTHUMG00000160179 NG_025087 8572 PGOHUM00000245474 HGNC:33346 +HGNC:53967 ZEBTR ZEB1 transcriptional regulator RNA non-coding RNA RNA, long non-coding Approved 10p11.22 10p11.22 LncRNA-BX111 Long non-coding RNAs with non-systematic symbols 1992 2019-01-16 2019-01-16 113391337 BX111887 29970904 +HGNC:30960 ZER1 zyg-11 related cell cycle regulator protein-coding gene gene with protein product Approved 9q34.11 09q34.11 "ZYG|Hzyg" "C9orf60|ZYG11BL" "chromosome 9 open reading frame 60|zyg-11 homolog B (C. elegans)-like|zer-1 homolog (C. elegans)" "ZYG11 cell cycle regulator family|Armadillo like helical domain containing" "6|1492" 2004-01-06 2007-01-04 2016-04-19 2016-10-05 10444 ENSG00000160445 OTTHUMG00000020759 uc004bwa.3 X99802 NM_006336 CCDS6910 Q7Z7L7 11719588 MGI:2442511 RGD:1310284 617764 HGNC:30960 "ENST00000291900.7|NM_006336.4" +HGNC:25858 ZFAND1 zinc finger AN1-type containing 1 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 FLJ14007 zinc finger, AN1-type domain 1 Zinc fingers AN1-type 63 2005-03-18 2016-02-12 2016-11-01 79752 ENSG00000104231 OTTHUMG00000164684 uc003ycj.3 NM_024699 "CCDS6232|CCDS55250|CCDS55251" Q8TCF1 24121501 MGI:1913611 RGD:1309519 HGNC:25858 "ENST00000220669.10|NM_024699.3" +HGNC:28073 ZFAND2A zinc finger AN1-type containing 2A protein-coding gene gene with protein product Approved 7p22.3 07p22.3 AIRAP arsenite inducible RNA associated protein zinc finger, AN1-type domain 2A Zinc fingers AN1-type 63 2005-08-22 2016-02-12 2016-02-12 90637 ENSG00000178381 OTTHUMG00000119019 uc003skc.4 BC029558 NM_182491 CCDS5323 Q8N6M9 20185824 MGI:2140729 RGD:1310991 610699 HGNC:28073 "ENST00000316495.8|NM_182491.4" +HGNC:41187 ZFAND2A-DT ZFAND2A divergent transcript non-coding RNA RNA, long non-coding Approved 7p22.3 07p22.3 Divergent transcripts 1990 2020-04-16 2020-04-16 101927021 ENSG00000229043 OTTHUMG00000151480 NR_110065 +HGNC:25206 ZFAND2B zinc finger AN1-type containing 2B protein-coding gene gene with protein product Approved 2q35 02q35 AIRAPL arsenite inducible RNA associated protein-like "zinc finger, AN1-type 2B|zinc finger, AN1-type domain 2B" Zinc fingers AN1-type 63 2005-08-22 2016-02-12 2016-02-12 130617 ENSG00000158552 OTTHUMG00000133135 uc031rri.1 AK074571 NM_138802 "CCDS2435|CCDS74656" Q8WV99 18467495 MGI:1916068 RGD:1306260 613474 HGNC:25206 "ENST00000289528.10|NM_138802.3" +HGNC:18019 ZFAND3 zinc finger AN1-type containing 3 protein-coding gene gene with protein product Approved 6p21.2 06p21.2 FLJ13222 TEX27 "testis expressed sequence 27|zinc finger, AN1-type domain 3" Zinc fingers AN1-type 63 2002-01-18 2005-12-15 2016-02-12 2016-02-12 60685 ENSG00000156639 OTTHUMG00000014629 uc003onx.4 AK023284 NM_021943 CCDS4836 Q9H8U3 MGI:1096572 RGD:1307113 607455 HGNC:18019 "ENST00000287218.9|NM_021943.3" +HGNC:55841 ZFAND3-DT ZFAND3 divergent transcript non-coding RNA RNA, long non-coding Approved 6p21.2 06p21.2 Divergent transcripts 1990 2021-08-02 2021-08-02 107986593 ENSG00000225945 XR_001744107 +HGNC:23504 ZFAND4 zinc finger AN1-type containing 4 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 FLJ40185 ANUBL1 "AN1, ubiquitin-like, homolog (Xenopus laevis)|zinc finger, AN1-type domain 4" Zinc fingers AN1-type 63 2003-11-21 2011-11-10 2016-02-12 2016-02-12 93550 ENSG00000172671 OTTHUMG00000018085 uc001jcm.6 AF311324 NM_174890 "CCDS60520|CCDS7214" Q86XD8 MGI:1914742 RGD:628707 HGNC:23504 "ENST00000344646.10|NM_174890.4" +HGNC:13008 ZFAND5 zinc finger AN1-type containing 5 protein-coding gene gene with protein product Approved 9q21.13 09q21.13 ZFAND5A "ZNF216|ZA20D2" "zinc finger protein 216|zinc finger, A20 domain containing 2|zinc finger, AN1-type domain 5" Zinc fingers AN1-type 63 1998-04-20 2006-07-07 2016-02-12 2016-02-12 7763 ENSG00000107372 OTTHUMG00000020008 uc031ted.1 AF062072 NM_001102420 CCDS6642 O76080 9758550 MGI:1278334 RGD:1310776 604761 HGNC:13008 "ENST00000376962.10|NM_001102420.3" +HGNC:30164 ZFAND6 zinc finger AN1-type containing 6 protein-coding gene gene with protein product Approved 15q25.1 15q25.1 "ZFAND5B|AWP1" protein associated with PRK1 ZA20D3 "zinc finger, A20 domain containing 3|zinc finger, AN1-type domain 6" Zinc fingers AN1-type 63 2004-09-10 2006-07-07 2016-02-12 2017-01-19 54469 ENSG00000086666 OTTHUMG00000144169 uc002bfe.2 BC005283 NM_019006 "CCDS10313|CCDS58395" Q6FIF0 11054541 MGI:1929510 RGD:1359317 610183 HGNC:30164 "ENST00000261749.11|NM_019006.4" +HGNC:42978 ZFAND6P1 zinc finger AN1-type containing 6 pseudogene 1 pseudogene pseudogene Approved 9p13.3 09p13.3 zinc finger, AN1-type domain 6 pseudogene 1 2011-09-12 2016-02-12 2016-02-12 100631382 ENSG00000244213 OTTHUMG00000019859 NG_029329 PGOHUM00000261990 HGNC:42978 +HGNC:33101 ZFAS1 ZNFX1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q13.13 20q13.13 "HSUP1|HSUP2" "C20orf199|NCRNA00275|ZNFX1-AS1" "chromosome 20 open reading frame 199|non-protein coding RNA 275|ZNFX1 antisense RNA 1 (non-protein coding)" "Small nucleolar RNA non-coding host genes|Long non-coding RNAs with non-systematic symbols" "1839|1992" 2006-08-07 2013-02-06 2012-08-15 2014-11-19 441951 ENSG00000177410 OTTHUMG00000032698 uc061xqc.1 "AY513722|AY513723" NR_003604 21460236 MGI:1916199 zfas1 ZFAS1 HGNC:33101 +HGNC:19899 ZFAT zinc finger and AT-hook domain containing protein-coding gene gene with protein product Approved 8q24.22 08q24.22 KIAA1485 "ZNF406|ZFAT1" "zinc finger protein 406|zinc finger and AT hook domain containing" Zinc fingers C2H2-type 28 2002-11-29 2008-01-25 2015-11-23 2016-10-05 57623 ENSG00000066827 OTTHUMG00000164321 uc003yup.4 BC025423 NM_001029939 "CCDS47924|CCDS55276|CCDS55275|CCDS43768" Q9P243 "10819331|18329245" MGI:2681865 RGD:1310886 610931 HGNC:19899 "ENST00000377838.8|NM_020863.4" +HGNC:33992 ZFAT-AS1 ZFAT antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.22 08q24.22 "SAS-ZFAT|NCRNA00070" non-protein coding RNA 70 "ZFATAS|ZFAT-AS" "ZFAT antisense RNA (non-protein coding)|ZFAT antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2008-02-12 2010-11-25 2012-08-15 2012-10-12 594840 ENSG00000248492 OTTHUMG00000164323 uc003yus.1 AB167742 NR_002438 "15294872|22894909" ZFAT-AS1 HGNC:33992 +HGNC:28328 ZFC3H1 zinc finger C3H1-type containing protein-coding gene gene with protein product Approved 12q21.1 12q21.1 "MGC23401|KIAA0546|CSRC2" "PSRC2|CCDC131" "proline/serine-rich coiled-coil 2|coiled-coil domain containing 131" Zinc fingers 26 2005-12-01 2008-10-01 2016-02-12 2016-11-09 196441 ENSG00000133858 OTTHUMG00000169545 uc001swo.4 AB011118 NM_144982 CCDS41813 O60293 9628581 MGI:2446143 RGD:1306287 HGNC:28328 "ENST00000378743.9|NM_144982.5" +HGNC:20152 ZFHX2 zinc finger homeobox 2 protein-coding gene gene with protein product Approved 14q11.2 14q11.2 "KIAA1762|KIAA1056|ZFH-5" ZNF409 zinc finger protein 409 "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 2002-12-18 2021-05-26 85446 ENSG00000136367 OTTHUMG00000156894 uc010tno.2 AB051549 NM_014894 CCDS55907 Q9C0A1 "11214970|10470851" MGI:2686934 RGD:735143 617828 8620 HGNC:20152 "ENST00000419474.5|NM_033400.3" HGNC:20152 +HGNC:52658 ZFHX2-AS1 ZFHX2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 14q11.2 14q11.2 Antisense RNAs 1987 2016-11-25 2016-11-25 109729160 ENSG00000157306 OTTHUMG00000187908 16257534 617833 zfhx2as +HGNC:777 ZFHX3 zinc finger homeobox 3 protein-coding gene gene with protein product Approved 16q22.2-q22.3 16q22.2-q22.3 "ZNF927|FLJ26184" "ATBF1|C16orf47" "AT-binding transcription factor 1|chromosome 16 open reading frame 47" "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1994-11-02 2007-08-09 2007-08-09 2021-05-26 463 ENSG00000140836 OTTHUMG00000137599 uc002fck.4 D10250 NM_006885 "CCDS10908|CCDS54035" Q15911 "1719379|7592926" MGI:99948 RGD:1560268 ZFHX3 104155 8621 HGNC:777 "ENST00000268489.10|NM_006885.4" +HGNC:56033 ZFHX3-AS1 ZFHX3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q22.2 16q22.2 Antisense RNAs 1987 2021-12-06 2021-12-06 101927978 ENSG00000259768 NR_171702 +HGNC:30939 ZFHX4 zinc finger homeobox 4 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "ZFH4|FLJ20980" zinc finger homeodomain 4 "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 2004-07-22 2007-07-16 2021-05-26 79776 ENSG00000091656 OTTHUMG00000164557 uc003yau.3 NM_024721 CCDS47878 Q86UP3 "10873665|11935336" MGI:2137668 RGD:1563022 606940 8622 471352 HGNC:30939 "ENST00000651372.2|NM_024721.5" +HGNC:44165 ZFHX4-AS1 ZFHX4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q21.13 08q21.13 ZFHX4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-30 2012-08-15 2016-10-05 100192378 ENSG00000253661 OTTHUMG00000164554 uc003yas.5 BC037827 NR_024360 ZFHX4-AS1 HGNC:44165 +HGNC:23328 ZFP1 ZFP1 zinc finger protein protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "FLJ34243|ZNF475" "zinc finger protein 1 homolog (mouse)|zinc finger protein 1" Zinc fingers C2H2-type 28 2003-11-07 2012-11-27 2021-04-27 162239 ENSG00000184517 OTTHUMG00000137602 uc002fdq.4 AK094761 NM_153688 "CCDS82013|CCDS82012|CCDS10914" Q6P2D0 2574853 MGI:99154 RGD:1565049 617230 HGNC:23328 "ENST00000570010.6|NM_153688.4" +HGNC:26138 ZFP2 ZFP2 zinc finger protein protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ21628|ZNF751" zinc finger protein 2 homolog (mouse) Zinc fingers C2H2-type 28 2005-05-09 2012-11-27 2021-04-27 80108 ENSG00000198939 OTTHUMG00000130885 uc003mjn.2 AK025281 NM_030613 CCDS4440 Q6ZN57 MGI:99167 RGD:1562610 HGNC:26138 "ENST00000361362.7|NM_030613.4" +HGNC:12861 ZFP3 ZFP3 zinc finger protein protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "FLJ30726|ZNF752" "zinc finger protein homologous to Zfp-3 in mouse|zinc finger protein 3 homolog (mouse)" Zinc fingers C2H2-type 28 2001-06-22 2012-11-27 2021-04-27 124961 ENSG00000180787 OTTHUMG00000177799 uc002gaq.4 BX647638 NM_153018 CCDS11067 Q96NJ6 MGI:99177 RGD:1565881 194480 HGNC:12861 "ENST00000318833.4|NM_153018.3" +HGNC:55340 ZFP3-DT ZFP3 divergent transcript non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Divergent transcripts 1990 2020-10-21 2020-10-21 119139902 ENSG00000262693 +HGNC:29312 ZFP14 ZFP14 zinc finger protein protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "KIAA1559|ZNF531" zinc finger protein 14 homolog (mouse) Zinc fingers C2H2-type 28 2006-06-30 2012-11-27 2021-04-27 57677 ENSG00000142065 OTTHUMG00000180675 uc010eex.3 AB046779 NM_020917 CCDS33002 Q9HCL3 10997877 MGI:99160 RGD:1560188 HGNC:29312 "ENST00000270001.12|NM_020917.3" +HGNC:17801 ZFP28 ZFP28 zinc finger protein protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "KIAA1431|mkr5" zinc finger protein 28 homolog (mouse) Zinc fingers C2H2-type 28 2001-12-19 2012-11-27 2021-04-27 140612 ENSG00000196867 OTTHUMG00000181944 uc002qnj.4 NM_020828 "CCDS77363|CCDS12946" Q8NHY6 MGI:99175 RGD:7679103 616798 HGNC:17801 "ENST00000301318.8|NM_020828.2" +HGNC:55297 ZFP28-DT ZFP28 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Divergent transcripts 1990 2020-10-15 2020-10-15 101928982 ENSG00000267421 XR_936091 +HGNC:29555 ZFP30 ZFP30 zinc finger protein protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "ZNF745|KIAA0961" zinc finger protein 30 homolog (mouse) Zinc fingers C2H2-type 28 2006-03-02 2012-11-27 2021-04-27 22835 ENSG00000120784 OTTHUMG00000048177 uc002ogx.2 AB023178 NM_014898 CCDS33005 Q9Y2G7 10231032 MGI:99178 RGD:6500781 617317 HGNC:29555 "ENST00000684514.1|NM_001320669.3" +HGNC:12862 ZFP36 ZFP36 ring finger protein protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "RNF162A|TIS11|G0S24|TTP|NUP475" tristetraprolin zinc finger protein 36, C3H type, homolog (mouse) Zinc fingers CCCH-type 73 1991-04-30 2012-11-27 2019-08-21 7538 ENSG00000128016 OTTHUMG00000182970 uc002olh.3 M63625 NM_003407 CCDS12534 P26651 1699942 MGI:99180 RGD:620722 190700 HGNC:12862 "ENST00000597629.3|NM_003407.5" +HGNC:1107 ZFP36L1 ZFP36 ring finger protein like 1 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 "RNF162B|Berg36|ERF1|TIS11B|cMG1" BRF1 "zinc finger protein, C3H type, 36-like 1|zinc finger protein 36, C3H type-like 1" Zinc fingers CCCH-type 73 1995-05-09 2001-11-23 2016-06-30 2020-09-17 677 ENSG00000185650 OTTHUMG00000171385 uc001xki.3 X79066 NM_001244698 CCDS9791 Q07352 8024689 MGI:107946 RGD:62009 601064 471354 HGNC:1107 "ENST00000439696.3|NM_004926.4" +HGNC:1108 ZFP36L2 ZFP36 ring finger protein like 2 protein-coding gene gene with protein product Approved 2p21 02p21 "ERF2|RNF162C|TIS11D" BRF2 "butyrate response factor 2 (EGF-response factor 2)|zinc finger protein 36, C3H type-like 2" Zinc fingers CCCH-type 73 1995-05-09 2001-11-23 2016-06-30 2020-09-17 678 ENSG00000152518 OTTHUMG00000128642 uc002rsv.5 X78992 NM_006887 CCDS1811 P47974 "7835719|8545129|14981510|17172869" MGI:107945 RGD:1308913 612053 HGNC:1108 "ENST00000282388.4|NM_006887.5" +HGNC:12863 ZFP37 ZFP37 zinc finger protein protein-coding gene gene with protein product Approved 9q32 09q32 ZNF906 "zinc finger protein homologous to Zfp37 in mouse|zinc finger protein 37 homolog (mouse)" Zinc fingers C2H2-type 28 1997-03-19 2012-11-27 2021-04-27 7539 ENSG00000136866 OTTHUMG00000021019 uc011lwz.3 AF022158 NM_003408 "CCDS6787|CCDS65110|CCDS65109" Q9Y6Q3 MGI:99181 RGD:2323040 602951 HGNC:12863 "ENST00000374227.8|NM_003408.3" +HGNC:26786 ZFP41 ZFP41 zinc finger protein protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "FLJ38705|FLJ00028|ZNF753" zinc finger protein 41 homolog (mouse) Zinc fingers C2H2-type 28 2005-10-06 2012-11-27 2021-04-27 286128 ENSG00000181638 OTTHUMG00000164951 uc064qwy.1 NM_173832 CCDS6397 Q8N8Y5 11214971 MGI:99186 RGD:1307587 HGNC:26786 "ENST00000330701.7|NM_173832.6" +HGNC:30949 ZFP42 ZFP42 zinc finger protein protein-coding gene gene with protein product Approved 4q35.2 04q35.2 "REX1|ZNF754" "zinc finger protein 42 homolog (mouse)|zinc finger protein 42" Zinc fingers C2H2-type 28 2005-05-09 2012-11-27 2014-11-19 132625 ENSG00000179059 OTTHUMG00000160235 uc003izh.2 AK056719 NM_174900 CCDS3849 Q96MM3 12110702 MGI:99187 RGD:2319133 614572 HGNC:30949 "ENST00000326866.5|NM_174900.5" +HGNC:18791 ZFP57 ZFP57 zinc finger protein protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZNF698|bA145L22|bA145L22.2" C6orf40 "chromosome 6 open reading frame 40|zinc finger protein 57 homolog (mouse)" Zinc fingers C2H2-type 28 2003-11-26 2005-07-20 2012-11-27 2018-11-22 346171 ENSG00000204644 OTTHUMG00000031158 uc011dlw.2 AL050328 NM_001109809 CCDS43436 Q9NU63 MGI:99204 RGD:1302981 612192 206724 HGNC:18791 "ENST00000376883.2|NM_001109809.5" HGNC:18791 +HGNC:23241 ZFP62 ZFP62 zinc finger protein protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "FLJ34231|ZET|ZNF755" "zinc finger protein 62 homolog (mouse)|zinc finger protein 62" Zinc fingers C2H2-type 28 2003-10-28 2012-11-27 2021-04-27 643836 ENSG00000196670 OTTHUMG00000162273 uc011dhe.3 AK002206 NM_152283 "CCDS54955|CCDS47357" Q8NB50 8808410 MGI:99662 RGD:1560191 610281 HGNC:23241 "ENST00000502412.2|NM_001172638.2" +HGNC:15940 ZFP64 ZFP64 zinc finger protein protein-coding gene gene with protein product Approved 20q13.2 20q13.2 "FLJ10734|dJ831D17.1|FLJ12628|dJ548G19.1" ZNF338 "zinc finger protein 338|zinc finger protein 64 homolog (mouse)|zinc finger protein 64" Zinc fingers C2H2-type 28 2001-06-21 2012-11-27 2016-10-05 55734 ENSG00000020256 OTTHUMG00000032756 uc002xwk.4 AK001596 NM_018197 "CCDS13441|CCDS82630|CCDS13442|CCDS13439|CCDS13440" Q9NTW7 9034307 MGI:107342 RGD:1307948 618111 HGNC:15940 "ENST00000216923.5|NM_018197.3" +HGNC:19820 ZFP64P1 ZFP64 zinc finger protein pseudogene 1 pseudogene pseudogene Approved 14q22.1 14q22.1 ZNF405P "zinc finger protein 405 pseudogene|zinc finger protein 405 (pseudogene)|zinc finger protein 405, pseudogene|zinc finger protein 64 homolog (mouse) pseudogene 1" 2003-01-13 2011-02-25 2012-11-27 2017-10-25 319123 ENSG00000258491 OTTHUMG00000170900 NG_002504 PGOHUM00000292351 HGNC:19820 +HGNC:24708 ZFP69 ZFP69 zinc finger protein protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "ZKSCAN23A|FLJ16030|ZFP69A|ZSCAN54A" ZFP69 zinc finger protein A ZNF642 zinc finger protein 642 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2004-11-03 2012-11-27 2012-11-27 2021-04-27 339559 ENSG00000187815 OTTHUMG00000007303 uc009vwb.4 AK122618 NM_198494 CCDS30686 Q49AA0 MGI:107794 RGD:2322990 617939 HGNC:24708 "ENST00000372706.6|NM_001320179.2" +HGNC:28053 ZFP69B ZFP69 zinc finger protein B protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "ZKSCAN23B|FLJ34293|ZSCAN54B" ZNF643 zinc finger protein 643 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2004-11-03 2012-11-27 2012-11-27 2021-04-27 65243 ENSG00000187801 OTTHUMG00000007302 uc001cfn.3 BC017498 NM_023070 CCDS452 Q9UJL9 HGNC:28053 "ENST00000361584.5|NM_023070.3" +HGNC:28682 ZFP82 ZFP82 zinc finger protein protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "MGC45380|KIAA1948" ZNF545 "zinc finger protein 545|zinc finger protein 82 homolog (mouse)|zinc finger protein 82" Zinc fingers C2H2-type 28 2004-02-13 2008-07-01 2012-11-27 2021-04-27 284406 ENSG00000181007 OTTHUMG00000048146 uc002ody.2 AL834267 NM_133466 CCDS12493 Q8N141 11853319 MGI:1890753 RGD:6499485 HGNC:28682 "ENST00000392161.4|NM_133466.4" +HGNC:23329 ZFP90 ZFP90 zinc finger protein protein-coding gene gene with protein product Approved 16q22.1 16q22.1 "KIAA1954|NK10|ZNF756" zinc finger protein 90 homolog (mouse) Zinc fingers C2H2-type 28 2003-11-07 2012-11-27 2021-04-27 146198 ENSG00000184939 OTTHUMG00000177312 uc010cff.4 AK074332 NM_133458 "CCDS42183|CCDS76892|CCDS82003" Q8TF47 7576184 MGI:104786 RGD:1563077 609451 HGNC:23329 "ENST00000563169.7|NM_001305203.2" +HGNC:14983 ZFP91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase protein-coding gene gene with protein product Approved 11q12.1 11q12.1 "PZF|ZNF757" "zinc finger protein homologous to Zfp91 in mouse|zinc finger protein 91 homolog (mouse)" Zinc fingers C2H2-type 28 2001-03-27 2020-03-09 2020-03-09 80829 ENSG00000186660 OTTHUMG00000137391 uc001nmx.5 AB056107 NM_053023 CCDS31553 Q96JP5 "12738986|20682767" MGI:104854 RGD:628736 619289 HGNC:14983 "ENST00000316059.7|NM_053023.5" +HGNC:33441 ZFP91-CNTF ZFP91-CNTF readthrough (NMD candidate) other readthrough Approved 11q12.1 11q12.1 2011-05-31 2013-05-09 2019-12-20 386607 ENSG00000255073 OTTHUMG00000166280 uc058bpo.1 AB057443 NR_024091 12738986 HGNC:33441 +HGNC:54652 ZFP91P1 ZFP91 pseudogene 1 pseudogene pseudogene Approved 2q14.3 02q14.3 2019-11-08 2019-11-08 100131832 ENSG00000274010 NG_008366 +HGNC:12865 ZFP92 ZFP92 zinc finger protein protein-coding gene gene with protein product Approved Xq28 Xq28 ZNF897 "zinc finger protein homologous to Zfp92 in mouse|zinc finger protein 92 homolog (mouse)" Zinc fingers C2H2-type 28 2000-02-18 2012-11-27 2021-04-27 139735 ENSG00000189420 OTTHUMG00000024198 uc011myo.3 U82695 NM_001136273 CCDS59177 A6NM28 MGI:108094 RGD:1559446 HGNC:12865 "ENST00000338647.7|NM_001136273.2" +HGNC:12868 ZFPL1 zinc finger protein like 1 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 "D11S750|MCG4" zinc-finger protein in MEN1 region 1997-10-30 2016-02-12 2016-10-05 7542 ENSG00000162300 OTTHUMG00000165597 uc001ocq.2 NM_006782 CCDS8092 O95159 9653652 MGI:1891017 RGD:1586738 619397 HGNC:12868 "ENST00000294258.8|NM_006782.4" +HGNC:19762 ZFPM1 zinc finger protein, FOG family member 1 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "FOG1|FOG|ZNF89A|ZC2HC11A" zinc finger protein, multitype 1 "Zinc fingers C2H2-type|Zinc fingers C2HC-type|PR/SET domain family|SET domain containing|MicroRNA protein coding host genes" "28|66|1197|1399|1691" 2002-11-26 2012-11-27 2021-12-07 161882 ENSG00000179588 OTTHUMG00000173152 uc002fkv.4 AF488691 NM_153813 CCDS32502 Q8IX07 MGI:1095400 RGD:1582810 601950 HGNC:19762 "ENST00000319555.8|NM_153813.3" +HGNC:55351 ZFPM1-AS1 ZFPM1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16q24.2 16q24.2 Antisense RNAs 1987 2020-11-05 2020-11-05 100128882 ENSG00000261744 NR_148997 +HGNC:16700 ZFPM2 zinc finger protein, FOG family member 2 protein-coding gene gene with protein product Approved 8q23 08q23 "FOG2|hFOG-2|ZNF89B|ZC2HC11B" zinc finger protein, multitype 2 "Zinc fingers C2H2-type|Zinc fingers C2HC-type|PR/SET domain family|SET domain containing" "28|66|1197|1399" 2002-11-26 2012-11-27 2021-12-07 23414 ENSG00000169946 OTTHUMG00000164818 uc003ymd.4 AF119334 NM_001362836 CCDS47908 Q8WW38 "9927675|10438528" MGI:1334444 RGD:1306021 603693 120598 HGNC:16700 "ENST00000407775.7|NM_012082.4" HGNC:16700 +HGNC:50698 ZFPM2-AS1 ZFPM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q23.1 08q23.1 SCAT3 S-phase cancer-associated transcript 3 Antisense RNAs 1987 2014-06-09 2018-08-03 102723356 ENSG00000251003 OTTHUMG00000164861 BF244158 NR_125796 "29491376|29985481" ZFPM2-AS1 HGNC:50698 +HGNC:17277 ZFR zinc finger RNA binding protein protein-coding gene gene with protein product Approved 5p13.3 05p13.3 "ZFR1|SPG71" MicroRNA protein coding host genes 1691 2001-12-07 2016-10-05 51663 ENSG00000056097 OTTHUMG00000161979 uc003jhr.2 AF100742 NM_016107 CCDS34139 Q96KR1 "11574164|24482476" MGI:1341890 RGD:1311890 615635 403392 HGNC:17277 "ENST00000265069.13|NM_016107.5" HGNC:17277 +HGNC:29189 ZFR2 zinc finger RNA binding protein 2 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 KIAA1086 KIAA1086 2004-02-10 2008-03-25 2008-03-25 2014-11-18 23217 ENSG00000105278 OTTHUMG00000180918 uc002lyw.3 AB029009 NM_015174 "CCDS45922|CCDS45921" Q9UPR6 10470851 MGI:2143792 RGD:1304737 619284 HGNC:29189 "ENST00000262961.9|NM_015174.2" +HGNC:38030 ZFRP1 zinc finger RNA binding protein pseudogene 1 pseudogene pseudogene Approved Xq11.1 Xq11.1 2010-03-23 2014-11-19 100129438 ENSG00000234570 OTTHUMG00000021694 NG_023000 PGOHUM00000241347 HGNC:38030 +HGNC:28449 ZFTA zinc finger translocation associated protein-coding gene gene with protein product Approved 11q13.1 11q13.1 MGC3032 C11orf95 chromosome 11 open reading frame 95 Zinc fingers C2H2-type 28 2009-10-02 2021-01-15 2021-01-15 2021-01-22 65998 ENSG00000188070 OTTHUMG00000167840 uc010rmv.3 "BC000572|AK096306" NM_001144936 CCDS44636 C9JLR9 "20607705|24553141" MGI:1919667 RGD:1560108 615699 395960 HGNC:28449 "ENST00000433688.2|NM_001144936.2" +HGNC:12869 ZFX zinc finger protein X-linked protein-coding gene gene with protein product Approved Xp22.11 Xp22.11 ZNF926 Zinc fingers C2H2-type 28 1988-07-06 2018-04-26 2021-05-26 7543 ENSG00000005889 OTTHUMG00000021264 uc004dbd.3 NM_003410 "CCDS14211|CCDS83461|CCDS55390" P17010 MGI:99211 RGD:1562664 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZFX 314980 HGNC:12869 "ENST00000304543.10|NM_003410.4" +HGNC:40617 ZFX-AS1 ZFX antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp22.11 Xp22.11 ZFX antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2021-07-05 100873922 ENSG00000234230 OTTHUMG00000021263 uc031thb.1 NR_046657 ZFX-AS1 HGNC:40617 +HGNC:12870 ZFY zinc finger protein Y-linked protein-coding gene gene with protein product Approved Yp11.2 Yp11.2 ZNF911 Zinc fingers C2H2-type 28 1988-07-06 2018-04-30 2021-04-27 7544 ENSG00000067646 OTTHUMG00000036159 uc065cpg.1 L10393 NM_003411 "CCDS14774|CCDS48200|CCDS48201" P08048 2497060 "MGI:99211|MGI:99212|MGI:99213" 490000 HGNC:12870 "ENST00000155093.8|NM_003411.4" +HGNC:38798 ZFY-AS1 ZFY antisense RNA 1 non-coding RNA RNA, long non-coding Approved Yp11.2 Yp11.2 "ZFYAS|ZFY-AS" "ZFY antisense RNA (non-protein coding)|ZFY antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2010-08-05 2010-11-25 2012-08-15 2020-04-20 107987337 ENSG00000233070 OTTHUMG00000036156 uc065cpj.1 NR_144458 ZFY-AS1 HGNC:38798 +HGNC:13180 ZFYVE1 zinc finger FYVE-type containing 1 protein-coding gene gene with protein product Approved 14q24.2 14q24.2 "DFCP1|KIAA1589|TAFF1|PPP1R172" protein phosphatase 1, regulatory subunit 172 ZNFN2A1 "zinc finger protein, subfamily 2A (FYVE domain containing), 1|zinc finger, FYVE domain containing 1" Zinc fingers FYVE-type 81 2000-05-02 2003-03-07 2016-02-15 2016-02-15 53349 ENSG00000165861 OTTHUMG00000171365 uc001xnm.5 AF251025 NM_021260 "CCDS9811|CCDS41969|CCDS61498" Q9HBF4 "11024279|11256955" MGI:3026685 RGD:1307795 605471 HGNC:13180 "ENST00000556143.6|NM_021260.4" +HGNC:6775 ZFYVE9 zinc finger FYVE-type containing 9 protein-coding gene gene with protein product Approved 1p32.3 01p32.3 "SMADIP|SARA|PPP1R173" protein phosphatase 1, regulatory subunit 173 MADHIP "MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor|zinc finger, FYVE domain containing 9" Zinc fingers FYVE-type 81 2000-06-08 2004-05-26 2016-02-15 2016-02-15 9372 ENSG00000157077 OTTHUMG00000008061 uc001cto.5 AF104304 NM_007324 "CCDS563|CCDS564" O95405 9865696 MGI:2652838 RGD:1310856 603755 HGNC:6775 "ENST00000287727.8|NM_004799.4" +HGNC:33359 ZFYVE9P1 zinc finger FYVE-type containing 9 pseudogene 1 pseudogene pseudogene Approved Xq26.3 Xq26.3 zinc finger, FYVE domain containing 9 pseudogene 1 2010-09-28 2016-02-15 2020-04-20 100289259 ENSG00000229562 OTTHUMG00000022526 NG_022707 PGOHUM00000242043 HGNC:33359 +HGNC:39046 ZFYVE9P2 zinc finger FYVE-type containing 9 pseudogene 2 pseudogene pseudogene Approved 2p24.2 02p24.2 zinc finger, FYVE domain containing 9 pseudogene 2 2010-09-28 2016-02-15 2016-02-15 100420972 ENSG00000214843 OTTHUMG00000151762 NG_023679 PGOHUM00000240587 HGNC:39046 +HGNC:20756 ZFYVE16 zinc finger FYVE-type containing 16 protein-coding gene gene with protein product Approved 5q14.1 05q14.1 "KIAA0305|PPP1R69" "endofin|protein phosphatase 1, regulatory subunit 69" zinc finger, FYVE domain containing 16 "Zinc fingers FYVE-type|Protein phosphatase 1 regulatory subunits" "81|694" 2003-04-01 2016-02-15 2016-02-15 9765 ENSG00000039319 OTTHUMG00000108178 uc003kgq.6 AB002303 NM_014733 CCDS4050 Q7Z3T8 11546807 MGI:2145181 RGD:1564784 608880 HGNC:20756 "ENST00000505560.5|NM_001284236.3" +HGNC:20758 ZFYVE19 zinc finger FYVE-type containing 19 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "FLJ14840|ANCHR|MPFYVE" "abscission/nocut checkpoint regulator|MLL partner containing FYVE domain" zinc finger, FYVE domain containing 19 Zinc fingers FYVE-type 81 2003-04-01 2016-02-15 2021-03-30 84936 ENSG00000166140 OTTHUMG00000172537 uc001zmt.2 AK027746 NM_032850 "CCDS58355|CCDS58354|CCDS42025|CCDS58353" Q96K21 24814515 MGI:1919258 RGD:1561576 619635 HGNC:20758 "ENST00000355341.8|NM_001077268.2" +HGNC:20760 ZFYVE21 zinc finger FYVE-type containing 21 protein-coding gene gene with protein product Approved 14q32.33 14q32.33 "MGC2550|ZF21" zinc finger, FYVE domain containing 21 Zinc fingers FYVE-type 81 2003-04-01 2016-02-15 2016-02-15 79038 ENSG00000100711 OTTHUMG00000171651 uc001yoc.4 AK057816 NM_024071 "CCDS9985|CCDS55948" Q9BQ24 21768110 MGI:1915770 RGD:1311036 613504 HGNC:20760 "ENST00000311141.7|NM_024071.4" +HGNC:20761 ZFYVE26 zinc finger FYVE-type containing 26 protein-coding gene gene with protein product Approved 14q24.1 14q24.1 KIAA0321 "spastizin|FYVE-CENT" SPG15 "spastic paraplegia 15 (complicated, autosomal recessive)|zinc finger, FYVE domain containing 26" Zinc fingers FYVE-type 81 2003-04-01 2016-02-15 2021-05-26 23503 ENSG00000072121 OTTHUMG00000171274 uc001xka.2 AB002319 NM_015346 CCDS9788 Q68DK2 "9205841|18394578" MGI:1924767 RGD:1307820 612012 159390 HGNC:20761 "ENST00000347230.9|NM_015346.4" HGNC:20761 +HGNC:26559 ZFYVE27 zinc finger FYVE-type containing 27 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 "FLJ32919|SPG33" protrudin zinc finger, FYVE domain containing 27 Zinc fingers FYVE-type 81 2004-03-05 2016-02-15 2020-01-28 118813 ENSG00000155256 OTTHUMG00000018867 uc001kom.3 BC030621 NM_144588 "CCDS31263|CCDS31262|CCDS31264|CCDS53562|CCDS53563|CCDS53564|CCDS53565" Q5T4F4 14702039 MGI:1919602 RGD:735177 610243 471356 HGNC:26559 "ENST00000684270.1|NM_001385875.1" HGNC:26559 +HGNC:29334 ZFYVE28 zinc finger FYVE-type containing 28 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 "KIAA1643|lst-2" lateral signaling target-2 homolog zinc finger, FYVE domain containing 28 Zinc fingers FYVE-type 81 2004-03-05 2016-02-15 2020-03-09 57732 ENSG00000159733 OTTHUMG00000160292 uc003gex.3 AK126692 NM_001172659 "CCDS33942|CCDS54708|CCDS54709|CCDS54712|CCDS54711|CCDS54710" Q9HCC9 "10997877|29549365" MGI:2684992 RGD:1310151 614176 HGNC:29334 "ENST00000290974.7|NM_020972.3" +HGNC:30961 ZG16 zymogen granule protein 16 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "hZG16|JCLN1|ZG16A" JCLN "jacalin-like lectin domain containing|zymogen granule protein 16 homolog (rat)" 2009-01-05 2009-03-11 2012-12-07 2020-04-20 653808 ENSG00000174992 OTTHUMG00000177139 uc002dtr.5 AK125559 NM_152338 CCDS54000 O60844 21110947 MGI:1916286 RGD:620346 617311 HGNC:30961 "ENST00000400752.6|NM_152338.4" +HGNC:30456 ZG16B zymogen granule protein 16B protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "HRPE773|PRO1567|JCLN2" jacalin-like lectin domain containing 2 zymogen granule protein 16 homolog B (rat) 2009-03-11 2012-12-07 2015-01-12 124220 ENSG00000162078 OTTHUMG00000128933 uc002cru.4 BC009722 NM_145252 CCDS10479 Q96DA0 21110947 "MGI:106021|MGI:3644062|MGI:3646420|MGI:3694550" RGD:1562673 HGNC:30456 "ENST00000382280.8|NM_145252.3" +HGNC:37245 ZGLP1 zinc finger GATA like protein 1 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "GLP1|GLP-1|GATAD3" "GATA like protein 1|GATA zinc finger domain containing 3" GATA zinc finger domain containing 82 2009-10-02 2019-01-18 2019-01-18 100125288 ENSG00000220201 OTTHUMG00000152114 uc002mnw.5 AK096830 NM_001103167 CCDS45959 P0C6A0 16982049 MGI:3696042 RGD:2322460 611639 HGNC:37245 +HGNC:15948 ZGPAT zinc finger CCCH-type and G-patch domain containing protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "dJ583P15.3|MGC44880|FLJ14972|ZC3HDC9|ZC3H9|GPATC6|GPATCH6|ZIP" KIAA1847 "KIAA1847|zinc finger CCCH-type with G-patch domain" "Zinc fingers CCCH-type|G-patch domain containing" "73|579" 2003-11-21 2004-12-01 2016-02-12 2016-10-05 84619 ENSG00000197114 OTTHUMG00000032998 uc002ygi.3 AK027878 NM_181484 "CCDS13534|CCDS56203|CCDS13535" Q8N5A5 16952911 MGI:2449939 RGD:1310801 619577 HGNC:15948 "ENST00000355969.11|NM_181485.3" +HGNC:25654 ZGRF1 zinc finger GRF-type containing 1 protein-coding gene gene with protein product Approved 4q25 04q25 FLJ11331 C4orf21 chromosome 4 open reading frame 21 "Zinc fingers GRF-type|UPF1 like RNA helicases" "135|1169" 2006-03-24 2014-02-18 2016-02-12 2016-02-12 55345 ENSG00000138658 OTTHUMG00000132908 BC044799 NM_018392 CCDS3700 Q86YA3 12477932 MGI:1918893 RGD:1305834 HGNC:25654 "ENST00000505019.6|NM_018392.5" +HGNC:12871 ZHX1 zinc fingers and homeoboxes 1 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 zinc-fingers and homeoboxes 1 "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 1999-08-19 2004-01-23 2015-07-14 11244 ENSG00000165156 OTTHUMG00000165088 uc003yqe.4 AF106862 NM_001017926 CCDS6342 Q9UKY1 10441475 MGI:109271 RGD:620010 604764 8596 HGNC:12871 "ENST00000395571.8|NM_007222.5" +HGNC:42975 ZHX1-C8orf76 ZHX1-C8orf76 readthrough other readthrough Approved 8q24.13 08q24.13 2011-09-28 2014-03-20 2014-03-20 2014-03-20 100533106 ENSG00000259305 OTTHUMG00000165087 uc064pxh.1 NM_001204180 CCDS56552 Q96EF9 MGI:1923008 HGNC:42975 +HGNC:18513 ZHX2 zinc fingers and homeoboxes 2 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 KIAA0854 zinc-fingers and homeoboxes 2 "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 2004-01-22 2004-01-23 2015-08-24 22882 ENSG00000178764 OTTHUMG00000165077 uc003ypk.2 AB020661 NM_014943 CCDS6336 Q9Y6X8 "10048485|12741956" MGI:2683087 RGD:727926 609185 8623 HGNC:18513 "ENST00000314393.6|NM_014943.5" +HGNC:15935 ZHX3 zinc fingers and homeoboxes 3 protein-coding gene gene with protein product Approved 20q12 20q12 KIAA0395 TIX1 triple homeobox 1 "Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes" "28|529" 2001-06-21 2004-01-30 2004-01-29 2014-11-18 23051 ENSG00000174306 OTTHUMG00000032481 uc002xju.2 AB007855 NM_015035 CCDS13315 Q9H4I2 9455477 MGI:2444772 RGD:631431 609598 8624 HGNC:15935 "ENST00000683867.1|NM_001384317.1" +HGNC:12872 ZIC1 Zic family member 1 protein-coding gene gene with protein product Approved 3q24 03q24 "ZIC|ZNF201" "Zic family member 1 (odd-paired Drosophila homolog)|Zic family member 1 (odd-paired homolog, Drosophila)" Zinc fingers C2H2-type 28 1997-10-09 2011-05-19 2021-05-26 7545 ENSG00000152977 OTTHUMG00000159456 uc003ewe.4 D76435 NM_003412 CCDS3136 Q15915 8542595 MGI:106683 RGD:620110 600470 120606 HGNC:12872 "ENST00000282928.5|NM_003412.4" HGNC:12872 +HGNC:12873 ZIC2 Zic family member 2 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 HPE5 Zinc finger protein of the cerebellum 2 "Zic family member 2 (odd-paired Drosophila homolog)|Zic family member 2 (odd-paired homolog, Drosophila)" Zinc fingers C2H2-type 28 1998-04-27 2011-05-19 2021-05-26 7546 ENSG00000043355 OTTHUMG00000017279 uc001von.4 AF104902 NM_007129 CCDS9495 O95409 9771712 MGI:106679 RGD:1311174 LRG_1157|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1157.xml 603073 120610 HGNC:12873 "ENST00000376335.8|NM_007129.5" HGNC:12873 +HGNC:12874 ZIC3 Zic family member 3 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "HTX|ZNF203" HTX1 "heterotaxy 1|Zic family member 3 (odd-paired homolog, Drosophila)" Zinc fingers C2H2-type 28 1993-11-16 2011-05-19 2021-05-26 7547 ENSG00000156925 OTTHUMG00000022525 uc004fak.4 AF028706 NM_001330661 "CCDS83494|CCDS14663" O60481 "8298651|7747776" MGI:106676 RGD:1561261 300265 120613 HGNC:12874 "ENST00000287538.10|NM_003413.4" HGNC:12874 +HGNC:20393 ZIC4 Zic family member 4 protein-coding gene gene with protein product Approved 3q24 03q24 zinc finger protein of the cerebellum 4 Zinc fingers C2H2-type 28 2003-02-03 2003-02-21 2013-01-08 84107 ENSG00000174963 OTTHUMG00000037281 uc003ewd.3 AF332509 NM_001168378 "CCDS54653|CCDS58857|CCDS43160|CCDS54652" Q8N9L1 MGI:107201 RGD:1307298 608948 120618 HGNC:20393 "ENST00000383075.8|NM_032153.6" +HGNC:40920 ZIC4-AS1 ZIC4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3q24 03q24 ZIC4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100873950 ENSG00000241202 OTTHUMG00000159453 uc062ott.1 NR_046703 ZIC4-AS1 +HGNC:20322 ZIC5 Zic family member 5 protein-coding gene gene with protein product Approved 13q32.3 13q32.3 Zic family member 5 (odd-paired homolog, Drosophila) Zinc fingers C2H2-type 28 2003-01-30 2011-05-19 2016-10-05 85416 ENSG00000139800 OTTHUMG00000017280 uc001vom.2 AF378304 NM_033132 CCDS9494 Q96T25 MGI:1929518 RGD:1310160 617896 HGNC:20322 "ENST00000267294.5|NM_033132.5" +HGNC:33104 ZIK1 zinc finger protein interacting with K protein 1 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZNF762 zinc finger protein interacting with K protein 1 homolog (mouse) Zinc fingers C2H2-type 28 2006-08-11 2012-12-07 2021-04-27 284307 ENSG00000171649 OTTHUMG00000183468 uc002qpg.4 AK092538 NM_001010879 "CCDS33135|CCDS82408|CCDS82407" Q3SY52 MGI:108070 RGD:1590949 HGNC:33104 "ENST00000597850.2|NM_001010879.4" +HGNC:38031 ZIK1P1 zinc finger protein interacting with K protein 1 pseudogene 1 pseudogene pseudogene Approved Xq25 Xq25 zinc finger protein interacting with K protein 1 homolog (mouse) pseudogene 1 2010-03-23 2012-12-07 2014-11-19 100131493 ENSG00000237426 OTTHUMG00000022340 NG_033796 PGOHUM00000241528 HGNC:38031 +HGNC:12875 ZIM2 zinc finger imprinted 2 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZNF656 Zinc fingers C2H2-type 28 1999-10-20 2016-03-07 2021-04-27 23619 ENSG00000269699 OTTHUMG00000171953 uc010etp.4 AF166122 NM_001146326 CCDS33123 Q9NZV7 HGNC:12875 "ENST00000629319.3|NM_001387356.1" +HGNC:51304 ZIM2-AS1 ZIM2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 ZIM2as Antisense RNAs 1987 2014-09-26 2014-09-26 101929059 ENSG00000269793 OTTHUMG00000182160 NR_110744 19539734 ZIM2-AS1 HGNC:51304 +HGNC:16366 ZIM3 zinc finger imprinted 3 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZNF657 Zinc fingers C2H2-type 28 2001-08-23 2016-03-07 2021-04-27 114026 ENSG00000141946 OTTHUMG00000183102 uc002qnz.1 AF365931 NM_052882 CCDS33125 Q96PE6 RGD:6499280 HGNC:16366 "ENST00000269834.1|NM_052882.1" +HGNC:13101 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "KOX18|PHZ-37|ZSCAN33" "ZNF139|ZNF36" zinc finger protein 36 (KOX 18) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-09-30 2004-11-17 2004-11-16 2021-04-27 7586 ENSG00000106261 OTTHUMG00000156534 uc003usk.3 X52349 NM_003439 "CCDS75640|CCDS69349|CCDS34698" P17029 MGI:1921820 RGD:1560616 601260 HGNC:13101 "ENST00000324306.11|NM_003439.4" +HGNC:25677 ZKSCAN2 zinc finger with KRAB and SCAN domains 2 protein-coding gene gene with protein product Approved 16p12.1 16p12.1 "FLJ23199|ZSCAN34" ZNF694 zinc finger protein 694 "Zinc fingers C2H2-type|SCAN domain containing|Myb/SANT domain containing" "28|42|532" 2005-05-13 2007-02-20 2007-02-20 2021-04-27 342357 ENSG00000155592 OTTHUMG00000177180 uc002dod.5 AK026852 NM_001012981 CCDS32410 Q63HK3 MGI:2444060 RGD:1359568 HGNC:25677 "ENST00000328086.12|NM_001012981.5" +HGNC:53912 ZKSCAN2-DT ZKSCAN2 divergent transcript non-coding RNA RNA, long non-coding Approved 16p12.1 16p12.1 CTD-2547G23.4 Divergent transcripts 1990 2018-05-24 2018-06-07 112577464 ENSG00000274925 OTTHUMG00000186827 NR_170220 29780284 +HGNC:13853 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "Zfp47|ZF47|ZSCAN35" "ZNF306|ZNF309" "zinc finger protein 306|zinc finger protein 309" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2001-09-20 2007-02-20 2007-02-20 2021-04-27 80317 ENSG00000189298 OTTHUMG00000014521 uc003nle.4 U71601 NM_024493 "CCDS4650|CCDS56408" Q9BRR0 "10520746|22531714" MGI:1919989 RGD:1305753 612791 HGNC:13853 "ENST00000252211.7|NM_024493.4" +HGNC:13854 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "p373c6.1|P1P373C6|FLJ32136|ZSCAN36" "ZNF307|ZNF427" "zinc finger protein 307|zinc finger protein 427" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-11-27 2007-02-20 2007-02-20 2021-04-27 387032 ENSG00000187626 OTTHUMG00000014511 uc003nks.2 AK056698 NM_019110 CCDS4647 Q969J2 19008334 MGI:3649412 RGD:1309004 611643 HGNC:13854 "ENST00000377294.3|NM_019110.5" +HGNC:12867 ZKSCAN5 zinc finger with KRAB and SCAN domains 5 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "ZNF914|ZSCAN37" ZFP95 "zinc finger protein homologous to Zfp95 in mouse|zinc finger protein 95 homolog (mouse)" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-08-23 2007-02-20 2007-02-20 2021-04-27 23660 ENSG00000196652 OTTHUMG00000156749 uc003uqv.4 AF170025 NM_014569 CCDS5667 Q9Y2L8 10585779 MGI:107533 RGD:1311175 611272 HGNC:12867 "ENST00000326775.10|NM_145102.4" +HGNC:12955 ZKSCAN7 zinc finger with KRAB and SCAN domains 7 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ12738|ZSCAN39" "ZNF64|ZNF448|ZNF167" "zinc finger protein 64|zinc finger protein 448|zinc finger protein 167" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1995-06-01 2013-01-09 2013-01-09 2021-04-27 55888 ENSG00000196345 OTTHUMG00000186378 uc003cnj.5 "L32164|AY280798" NM_018651 "CCDS74924|CCDS2714|CCDS2715" Q9P0L1 "7814019|1505991" MGI:3040678 RGD:1305242 HGNC:12955 "ENST00000426540.6|NM_001288590.2" +HGNC:53964 ZKSCAN7-AS1 ZKSCAN7 ZNF cluster antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 RP11-944L7.4 Antisense RNAs 1987 2018-07-04 2018-07-04 112840933 ENSG00000236869 OTTHUMG00000156455 NR_157564 29959764 HGNC:53964 +HGNC:49867 ZKSCAN7P1 zinc finger with KRAB and SCAN domains 7 pseudogene 1 pseudogene pseudogene Approved 12p12.3 12p12.3 2014-03-18 2014-03-18 100419827 ENSG00000256138 OTTHUMG00000168843 NG_024067 PGOHUM00000239695 HGNC:49867 +HGNC:12983 ZKSCAN8 zinc finger with KRAB and SCAN domains 8 protein-coding gene gene with protein product Approved 6p21 06p21 "LD5-1|ZSCAN40" ZNF192 zinc finger protein 192 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1997-02-14 2013-01-09 2013-01-09 2021-04-27 7745 ENSG00000198315 OTTHUMG00000014510 uc003nkn.3 NM_001278119 CCDS4645 Q15776 MGI:1913815 RGD:1308983 602240 HGNC:12983 "ENST00000330236.7|NM_006298.4" +HGNC:18777 ZKSCAN8P1 ZKSCAN8 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "dJ265C24.4|ZNF389P" zinc finger protein 389, pseudogene "ZNF389|ZNF192P1" "zinc finger protein 389|zinc finger protein 192 pseudogene 1" 2004-01-16 2021-03-24 2021-03-24 2021-04-27 651302 ENSG00000226314 OTTHUMG00000014513 NR_103448 HGNC:18777 +HGNC:42862 ZKSCAN8P2 ZKSCAN8 pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 ZNF192P2 zinc finger protein 192 pseudogene 2 2011-08-31 2021-03-24 2021-03-24 2021-03-24 222701 ENSG00000218016 OTTHUMG00000014514 NG_006136 PGOHUM00000243544 HGNC:42862 +HGNC:29377 ZMAT1 zinc finger matrin-type 1 protein-coding gene gene with protein product Approved Xq22.1 Xq22.1 KIAA1789 Zinc fingers matrin-type 84 2004-09-06 2016-02-12 2020-04-02 84460 ENSG00000166432 OTTHUMG00000022044 uc011mrl.3 Z69304 NM_001011657 CCDS35348 Q5H9K5 MGI:2442284 RGD:1565344 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZMAT1 301007 HGNC:29377 "ENST00000651725.2|NM_001394560.1" +HGNC:26433 ZMAT2 zinc finger matrin-type 2 protein-coding gene gene with protein product Approved 5q31.3 05q31.3 "FLJ31121|hSNU23|Snu23" "Zinc fingers matrin-type|Spliceosomal B complex" "84|1507" 2004-09-06 2016-02-12 2019-03-21 153527 ENSG00000146007 OTTHUMG00000129503 uc003lgy.2 AK055683 NM_144723 CCDS4239 Q96NC0 30380419 MGI:1913742 RGD:1583592 HGNC:26433 "ENST00000274712.8|NM_144723.3" HGNC:26433 +HGNC:29983 ZMAT3 zinc finger matrin-type 3 protein-coding gene gene with protein product Approved 3q26.32 03q26.32 "WIG1|MGC10613|FLJ12296|WIG-1|PAG608" Zinc fingers matrin-type 84 2006-06-30 2016-02-12 2016-02-12 64393 ENSG00000172667 OTTHUMG00000157290 uc003fjg.5 AK122768 NM_152240 "CCDS46962|CCDS3224" Q9HA38 "9400996|11689294" MGI:1195270 RGD:620134 606452 HGNC:29983 "ENST00000311417.7|NM_022470.4" +HGNC:25844 ZMAT4 zinc finger matrin-type 4 protein-coding gene gene with protein product Approved 8p11.21 08p11.21 FLJ13842 Zinc fingers matrin-type 84 2005-03-22 2016-02-12 2016-02-12 79698 ENSG00000165061 OTTHUMG00000164049 uc003xnr.5 AK023904 NM_024645 "CCDS47848|CCDS34885" Q9H898 21269563 MGI:2443497 RGD:1584398 HGNC:25844 "ENST00000297737.11|NM_024645.3" +HGNC:28046 ZMAT5 zinc finger matrin-type 5 protein-coding gene gene with protein product Approved 22q12.2 22q12.2 SNRNP20 "U11/U12 snRNP 20K|zinc finger CCCH-type containing 19" ZC3H19 zinc finger CCCH-type containing 19 "Zinc fingers CCCH-type|Zinc fingers matrin-type|U11/U12 di-snRNP" "73|84|1521" 2005-05-12 2015-07-06 2016-02-12 2016-02-12 55954 ENSG00000100319 OTTHUMG00000151292 uc003agn.4 NM_019103 CCDS13868 Q9UDW3 9847074 MGI:1914428 RGD:1559774 619741 HGNC:28046 "ENST00000344318.4|NM_001003692.2" +HGNC:16493 ZMIZ1 zinc finger MIZ-type containing 1 protein-coding gene gene with protein product Approved 10q22.3 10q22.3 "RP11-519K18.1|KIAA1224|FLJ13541|hZIMP10|Zimp10|MIZ" RAI17 retinoic acid induced 17 Zinc fingers MIZ-type 85 2001-12-07 2006-10-24 2016-02-12 2021-05-26 57178 ENSG00000108175 OTTHUMG00000018560 uc001kaf.3 AB033050 NM_020338 CCDS7357 Q9ULJ6 15626329 MGI:3040693 RGD:1311620 607159 HGNC:16493 "ENST00000334512.10|NM_020338.4" HGNC:16493 +HGNC:27433 ZMIZ1-AS1 ZMIZ1 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.3 10q22.3 Antisense RNAs 1987 2013-02-15 2014-11-19 283050 ENSG00000224596 OTTHUMG00000018559 uc001jzz.4 NR_024431 ZMIZ1-AS1 HGNC:27433 +HGNC:22229 ZMIZ2 zinc finger MIZ-type containing 2 protein-coding gene gene with protein product Approved 7p13 07p13 "KIAA1886|hZIMP7|ZIMP7|DKFZp761I2123|NET27" Zinc fingers MIZ-type 85 2006-10-24 2016-02-12 2016-02-12 83637 ENSG00000122515 OTTHUMG00000155817 uc003tlr.4 AK090415 NM_031449 "CCDS43577|CCDS43576|CCDS75591" Q8NF64 MGI:106374 RGD:1309256 611196 HGNC:22229 "ENST00000309315.9|NM_031449.4" +HGNC:12877 ZMPSTE24 zinc metallopeptidase STE24 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 "FACE-1|Ste24p|STE24|HGPS|PRO1" "Hutchinson-Gilford progeria syndrome|CAAX prenyl protease 1 homolog" "zinc metalloproteinase (STE24 homolog, yeast)|zinc metallopeptidase (STE24 homolog, yeast)|zinc metallopeptidase STE24 homolog (S. cerevisiae)" M48 metallopeptidase family 2105 1999-09-17 2012-12-10 2021-04-13 10269 ENSG00000084073 OTTHUMG00000005762 uc001cfg.5 Y13834 NM_005857 CCDS449 O75844 "10373325|9700155|16671095" MGI:1890508 RGD:1305570 "ZMPSTE24 @ LOVD|http://www.LOVD.nl/ZMPSTE24|Leiden Muscular Dystrophy pages|http://www.dmd.nl/nmdb2/home.php?select_db=ZMPSTE24|LRG_212|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_212.xml" 606480 120620 M48.003 3.4.24.84 HGNC:12877 "ENST00000372759.4|NM_005857.5" HGNC:12877 +HGNC:55402 ZMPSTE24-DT ZMPSTE24 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-01-06 2021-01-06 120017338 ENSG00000259943 +HGNC:26253 ZMYM1 zinc finger MYM-type containing 1 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "FLJ23151|MYM" zinc finger, MYM domain containing 1 Zinc fingers MYM-type 86 2004-03-29 2016-02-15 2016-02-15 79830 ENSG00000197056 OTTHUMG00000004374 uc031txc.2 AK096206 NM_024772 CCDS41302 Q5SVZ6 12477932 MGI:1915560 RGD:1307027 HGNC:26253 "ENST00000359858.9|NM_024772.5" +HGNC:12989 ZMYM2 zinc finger MYM-type containing 2 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "RAMP|FIM|MYM" ZNF198 zinc finger protein 198 Zinc fingers MYM-type 86 1997-07-22 2006-07-13 2016-02-15 2021-05-26 7750 ENSG00000121741 OTTHUMG00000016507 uc031zxu.1 AF012126 NM_003453 CCDS45016 Q9UBW7 "9499416|9425908" MGI:1923257 RGD:1593255 ZMYM2 602221 HGNC:12989 "ENST00000610343.5|NM_197968.4" HGNC:12989 +HGNC:13054 ZMYM3 zinc finger MYM-type containing 3 protein-coding gene gene with protein product Approved Xq13.1 Xq13.1 "ZNF198L2|DXS6673E|KIAA0385|MYM" zinc finger, myeloproliferative, and mental retardation-type 3 ZNF261 zinc finger protein 261 Zinc fingers MYM-type 86 1999-02-15 2005-12-19 2016-02-15 2022-03-07 9203 ENSG00000147130 OTTHUMG00000021799 uc004dzh.3 AB002383 NM_201599 "CCDS55443|CCDS14409|CCDS55444" Q14202 "10486218|28242625" MGI:1927231 RGD:1564967 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZMYM3 300061 471358 HGNC:13054 "ENST00000314425.9|NM_201599.3" HGNC:13054 +HGNC:13055 ZMYM4 zinc finger MYM-type containing 4 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "KIAA0425|ZNF198L3|MYM" ZNF262 zinc finger protein 262 Zinc fingers MYM-type 86 1999-02-15 2005-12-19 2016-02-15 2016-10-05 9202 ENSG00000146463 OTTHUMG00000004241 uc001byt.3 AB007885 NM_005095 CCDS389 Q5VZL5 10449923 MGI:1915035 RGD:1309545 613568 HGNC:13055 "ENST00000314607.11|NM_005095.3" +HGNC:40624 ZMYM4-AS1 ZMYM4 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p34.3 01p34.3 ZMYM4 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-12-05 2012-08-15 2014-11-19 100861513 ENSG00000227409 OTTHUMG00000004369 uc057eru.1 "BG187713|BG208679" NR_046659 ZMYM4-AS1 HGNC:40624 +HGNC:13029 ZMYM5 zinc finger MYM-type containing 5 protein-coding gene gene with protein product Approved 13q12.11 13q12.11 "ZNF198L1|MYM" Zinc finger protein 198-like 1 ZNF237 zinc finger protein 237 Zinc fingers MYM-type 86 1998-10-30 2005-09-12 2016-02-15 2022-03-07 9205 ENSG00000132950 OTTHUMG00000016504 uc010tcn.1 AF161535 NM_014242 "CCDS31943|CCDS31942" Q9UJ78 10894931 MGI:3041170 RGD:1306353 616443 HGNC:13029 "ENST00000337963.9|NM_001142684.2" HGNC:13029 +HGNC:13050 ZMYM6 zinc finger MYM-type containing 6 protein-coding gene gene with protein product Approved 1p34.3 01p34.3 "ZNF198L4|MYM|Buster2|ZBED7|KIAA1353" zinc finger, BED-type containing 7 ZNF258 zinc finger protein 258 Zinc fingers MYM-type 86 1999-02-15 2005-09-12 2016-02-15 2021-05-26 9204 ENSG00000163867 OTTHUMG00000004163 uc001byh.4 AF055470 NM_007167 CCDS387 O95789 "10486218|23533661" MGI:106505 RGD:1561833 613567 HGNC:13050 "ENST00000357182.9|NM_007167.4" HGNC:13050 +HGNC:9397 ZMYND8 zinc finger MYND-type containing 8 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "RACK7|KIAA1125" RACK like clone 7 PRKCBP1 protein kinase C binding protein 1 "Zinc fingers MYND-type|PHD finger proteins|PWWP domain containing|Bromodomain containing" "87|88|1147|1232" 1999-10-19 2007-01-29 2016-02-15 2022-03-07 23613 ENSG00000101040 OTTHUMG00000032667 uc061xnt.1 U48251 NM_183047 "CCDS63303|CCDS63304|CCDS63305|CCDS74738|CCDS63300|CCDS63306|CCDS13405|CCDS13404|CCDS46613|CCDS86961|CCDS86962|CCDS63301" Q9ULU4 "11003709|27477906" MGI:1918025 RGD:1309544 615713 objectId:2781 HGNC:9397 "ENST00000471951.7|NM_001281775.3" HGNC:9397 +HGNC:19412 ZMYND10 zinc finger MYND-type containing 10 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "BLU|CILD22|DNAAF7" "dynein axonemal assembly factor 7|Ciliary dyskinesia, primary, 22|tumor suppressor BLU" "Zinc fingers MYND-type|Axonemal dynein assembly factors" "87|1627" 2003-05-01 2016-02-15 2022-03-07 51364 ENSG00000004838 OTTHUMG00000156874 uc003dag.2 U70824 NM_015896 "CCDS2825|CCDS77747" O75800 "12629521|23891469" MGI:2387863 RGD:1303250 607070 360500 HGNC:19412 "ENST00000231749.8|NM_015896.4" HGNC:19412 +HGNC:40890 ZMYND10-AS1 ZMYND10 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 ZMYND10 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2014-11-19 100874210 ENSG00000235058 OTTHUMG00000156875 uc062kef.1 ZMYND10-AS1 +HGNC:16966 ZMYND11 zinc finger MYND-type containing 11 protein-coding gene gene with protein product Approved 10p15.3 10p15.3 "BS69|BRAM1" "Zinc fingers MYND-type|PHD finger proteins|PWWP domain containing|Bromodomain containing" "87|88|1147|1232" 2004-04-20 2016-02-15 2022-03-07 10771 ENSG00000015171 OTTHUMG00000017526 uc010pzu.3 X86098 NM_006624 "CCDS7052|CCDS55697|CCDS81436|CCDS55696|CCDS7053|CCDS73061|CCDS73060" Q15326 "7621829|10734313|24590075" MGI:1913755 RGD:1303252 608668 444761 objectId:2782 HGNC:16966 "ENST00000381604.9|NM_001370100.5" HGNC:16966 +HGNC:21192 ZMYND12 zinc finger MYND-type containing 12 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 DKFZp434N2435 Zinc fingers MYND-type 87 2003-05-23 2016-02-15 2016-10-05 84217 ENSG00000066185 OTTHUMG00000007333 uc001chj.4 AK057384 NM_032257 CCDS467 Q9H0C1 11230166 MGI:2140259 RGD:1307175 HGNC:21192 "ENST00000372565.8|NM_032257.5" +HGNC:20997 ZMYND15 zinc finger MYND-type containing 15 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 DKFZp434N127 Zinc fingers MYND-type 87 2003-05-01 2016-02-15 2022-03-07 84225 ENSG00000141497 OTTHUMG00000090760 uc002fyv.4 AL136893 NM_032265 "CCDS45584|CCDS11053|CCDS58506" Q9H091 "11230166|20675388" MGI:3603821 RGD:1309845 614312 401603 HGNC:20997 "ENST00000433935.6|NM_001136046.3" HGNC:20997 +HGNC:21146 ZMYND19 zinc finger MYND-type containing 19 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 MIZIP Zinc fingers MYND-type 87 2003-05-20 2016-02-15 2016-02-15 116225 ENSG00000165724 OTTHUMG00000020992 uc004cno.2 BC012948 NM_138462 CCDS7048 Q96E35 MGI:1914437 RGD:735079 611424 HGNC:21146 "ENST00000298585.3|NM_138462.3" +HGNC:44540 ZMYND19P1 zinc finger MYND-type containing 19 pseudogene 1 pseudogene pseudogene Approved 14q24.3 14q24.3 2012-11-15 2016-02-15 2016-02-15 100421055 ENSG00000258917 OTTHUMG00000171543 NG_027392 PGOHUM00000248238 HGNC:44540 +HGNC:12991 ZNF2 zinc finger protein 2 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 "A1-5|ZNF661|Zfp661" zinc finger protein 2 (A1-5) Zinc fingers C2H2-type 28 1989-05-31 2005-02-07 2021-04-27 7549 ENSG00000275111 OTTHUMG00000155150 uc032nuy.2 X60152 NM_021088 "CCDS62957|CCDS42713|CCDS42712|CCDS77434|CCDS77435" Q9BSG1 "8183940|1945843" MGI:1919430 RGD:6500748 194500 HGNC:12991 "ENST00000614034.5|NM_021088.4" +HGNC:13089 ZNF3 zinc finger protein 3 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "A8-51|KOX25|PP838|FLJ20216|HF.12|Zfp113" zinc finger protein 3 (A8-51) Zinc fingers C2H2-type 28 1989-05-31 2006-05-05 2021-04-27 7551 ENSG00000166526 OTTHUMG00000154596 uc031syk.2 AF027136 NM_017715 "CCDS43618|CCDS43619" P17036 MGI:1929116 RGD:6489147 194510 HGNC:13089 "ENST00000299667.9|NM_032924.5" +HGNC:13139 ZNF7 zinc finger protein 7 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "KOX4|HF.16" zinc finger protein 7 (KOX 4, clone HF.16) Zinc fingers C2H2-type 28 1989-09-08 2006-05-09 2021-04-27 7553 ENSG00000147789 OTTHUMG00000165200 uc003zeh.4 AB209619 NM_003416 "CCDS64999|CCDS83336|CCDS64998|CCDS6435|CCDS64996" P17097 "2106481|1946370" MGI:99208 RGD:1310636 194531 HGNC:13139 "ENST00000532777.6|NM_003416.4" +HGNC:13154 ZNF8 zinc finger protein 8 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "HF.18|Zfp128" zinc finger protein 8 (clone HF.18) Zinc fingers C2H2-type 28 1989-09-08 2006-05-09 2021-04-27 7554 ENSG00000278129 OTTHUMG00000182073 uc002qry.2 M29581 NM_021089 CCDS12974 P17098 2106481 MGI:2389445 RGD:11399146 194532 HGNC:13154 "ENST00000621650.2|NM_021089.3" +HGNC:55280 ZNF8-DT ZNF8 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Divergent transcripts 1990 2020-10-09 2020-10-09 105372482 ENSG00000268516 XR_007089286 +HGNC:12879 ZNF10 zinc finger protein 10 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 KOX1 zinc finger protein 10 (KOX 1) Zinc fingers C2H2-type 28 1990-06-13 2005-05-22 2021-04-27 7556 ENSG00000256223 OTTHUMG00000167944 uc001ulq.4 "X52332|BC024182" NM_015394 CCDS9283 P21506 "7865130|8262519" 194538 HGNC:12879 "ENST00000248211.11|NM_015394.5" +HGNC:12902 ZNF12 zinc finger protein 12 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "KOX3|GIOT-3" ZNF325 zinc finger protein 325 Zinc fingers C2H2-type 28 1990-06-13 2005-06-09 2021-04-27 7559 ENSG00000164631 OTTHUMG00000151910 uc003sqt.3 "X52334|AB021643" NM_016265 "CCDS47538|CCDS47539" P17014 MGI:99157 RGD:1564396 194536 HGNC:12902 "ENST00000405858.6|NM_016265.4" +HGNC:12924 ZNF14 zinc finger protein 14 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "KOX6|GIOT-4" zinc finger protein 14 (KOX 6) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2021-04-27 7561 ENSG00000105708 OTTHUMG00000182362 uc002nnk.2 AA286756 NM_021030 CCDS12409 P17017 "MGI:3642406|MGI:3652002|MGI:3709324" RGD:620185 194556 HGNC:12924 "ENST00000344099.4|NM_021030.3" +HGNC:12947 ZNF16 zinc finger protein 16 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KOX9 zinc finger protein 16 (KOX 9) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2021-04-27 7564 ENSG00000170631 OTTHUMG00000165253 uc003zet.3 X52340 NM_006958 CCDS6437 P17020 RGD:7613843 601262 HGNC:12947 "ENST00000394909.7|NM_006958.3" +HGNC:12958 ZNF17 zinc finger protein 17 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "HPF3|KOX10|KIAA1947|FLJ40864|FLJ46058|FLJ46615" zinc finger protein 17 (HPF3, KOX 10) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2021-04-27 7565 ENSG00000186272 OTTHUMG00000183371 uc002qoo.2 X52341 NM_006959 "CCDS42636|CCDS82405" P17021 "2115127|2014798" 619254 HGNC:12958 "ENST00000307658.12|NM_001330617.2" +HGNC:12969 ZNF18 zinc finger protein 18 protein-coding gene gene with protein product Approved 17p12 17p12 "ZKSCAN6|KOX11|HDSG1|Zfp535|ZNF535|ZSCAN38" zinc finger protein 18 (KOX 11) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-06-13 2006-05-10 2021-04-27 7566 ENSG00000154957 OTTHUMG00000178307 uc002gnh.2 X52342 NM_001303282 "CCDS32568|CCDS76957" P17022 15702252 MGI:1289293 RGD:1305130 194524 HGNC:12969 "ENST00000580306.7|NM_001303281.2" +HGNC:12981 ZNF19 zinc finger protein 19 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "KOX12|MGC51021" zinc finger protein 19 (KOX 12) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2021-04-27 7567 ENSG00000157429 OTTHUMG00000137593 uc002fam.2 X52343 NM_006961 CCDS10901 P17023 "1505991|1946370" 194525 HGNC:12981 "ENST00000288177.10|NM_006961.4" +HGNC:12992 ZNF20 zinc finger protein 20 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 KOX13 zinc finger protein 20 (KOX 13) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2021-04-27 7568 ENSG00000132010 OTTHUMG00000156409 uc002mtf.3 X52344 NM_021143 CCDS45986 P17024 194557 HGNC:12992 "ENST00000334213.10|NM_021143.4" +HGNC:13012 ZNF22 zinc finger protein 22 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "KOX15|HKR-T1|ZNF422|Zfp422" Zinc fingers C2H2-type 28 1990-06-13 2012-07-12 2021-04-27 7570 ENSG00000165512 OTTHUMG00000018064 uc001jbw.4 BC041139 NM_006963 CCDS7211 P17026 MGI:1914505 RGD:620229 194529 HGNC:13012 "ENST00000298299.4|NM_006963.5" +HGNC:23509 ZNF22-AS1 ZNF22 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 FLJ30567 C10orf25 chromosome 10 open reading frame 25 Antisense RNAs 1987 2003-11-21 2019-10-04 2019-10-04 2019-10-04 220979 ENSG00000165511 OTTHUMG00000018066 uc057syf.1 AK055129 NR_126421 Q5T742 HGNC:23509 +HGNC:13023 ZNF23 zinc finger protein 23 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 "KOX16|Zfp612|ZNF612" ZNF359 zinc finger protein 359 Zinc fingers C2H2-type 28 1990-06-13 2012-07-12 2021-04-27 7571 ENSG00000167377 OTTHUMG00000176797 uc002fah.4 X52347 NM_145911 "CCDS10900|CCDS76895" P17027 MGI:2443465 RGD:1307197 194527 HGNC:13023 "ENST00000647773.2|NM_001381984.1" HGNC:13023 +HGNC:13032 ZNF24 zinc finger protein 24 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "ZSCAN3|Zfp191|KOX17" ZNF191 zinc finger protein 24 (KOX 17) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-06-13 2006-05-10 2021-04-27 7572 ENSG00000172466 OTTHUMG00000132565 uc002kys.3 AF016052 NM_006965 "CCDS11912|CCDS77175" P17028 MGI:1929704 RGD:727963 194534 HGNC:13032 "ENST00000261332.11|NM_006965.4" +HGNC:55876 ZNF24TR ZNF24 transcription regulator non-coding RNA RNA, long non-coding Approved 18q12.2 18q12.2 ZNFTR Long non-coding RNAs with non-systematic symbols 1992 2021-10-07 2021-10-07 122965328 ENSG00000267583 XR_007066339 34480024 +HGNC:13043 ZNF25 zinc finger protein 25 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 "KOX19|FLJ31890|Zfp9" zinc finger protein 25 (KOX 19) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2021-04-27 219749 ENSG00000175395 OTTHUMG00000019344 uc001ize.2 AK056452 "NM_145011|NM_006966" CCDS7195 P17030 "1639412|8464732" MGI:99210 RGD:2293498 194528 HGNC:13043 "ENST00000302609.8|NM_145011.4" +HGNC:54109 ZNF25-DT ZNF25 divergent transcript non-coding RNA RNA, long non-coding Approved 10p11.21 10p11.21 Divergent transcripts 1990 2018-11-29 2018-11-29 105376499 ENSG00000226447 XR_001747428 HGNC:54109 +HGNC:13053 ZNF26 zinc finger protein 26 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 "KOX20|FLJ20755" zinc finger protein 26 (KOX 20) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2021-04-27 7574 ENSG00000198393 OTTHUMG00000167936 uc001ull.3 X52351 NM_019591 "CCDS31939|CCDS81756" P17031 194537 HGNC:13053 "ENST00000328654.10|NM_019591.4" +HGNC:13073 ZNF28 zinc finger protein 28 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "KOX24|DKFZp781D0275" zinc finger protein 28 (KOX 24) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2021-04-27 7576 ENSG00000198538 OTTHUMG00000154564 uc002qad.4 X52355 NM_006969 CCDS33093 P17035 MGI:3652255 HGNC:13073 "ENST00000457749.7|NM_006969.5" +HGNC:13080 ZNF29P zinc finger protein 29, pseudogene pseudogene pseudogene Approved 17p12 17p12 KOX26 ZNF29 "zinc finger protein 29 (KOX 26)|zinc finger protein 29 pseudogene|zinc finger protein 29 (pseudogene)" 1990-06-13 2009-11-20 2010-08-03 2021-04-27 7577 ENSG00000108452 OTTHUMG00000059142 X52357 NG_007542 2288909 194535 HGNC:13080 +HGNC:13090 ZNF30 zinc finger protein 30 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 "KOX28|DKFZp686N19164|FLJ20562" zinc finger protein 30 (KOX 28) Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2021-04-27 90075 ENSG00000168661 OTTHUMG00000182960 uc010edr.2 X52359 NM_194325 "CCDS46045|CCDS46044" P17039 HGNC:13090 "ENST00000601142.2|NM_194325.3" +HGNC:51179 ZNF30-AS1 ZNF30 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.11 19q13.11 Antisense RNAs 1987 2014-08-01 2014-08-01 102723513 ENSG00000270876 OTTHUMG00000184607 NR_110749 ZNF30-AS1 HGNC:51179 +HGNC:13095 ZNF32 zinc finger protein 32 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "KOX30|ZNF637|Zfp637" zinc finger protein 32 (KOX 30) Zinc fingers C2H2-type 28 1990-06-13 2006-05-11 2021-04-27 7580 ENSG00000169740 OTTHUMG00000018043 uc001jbc.4 U69645 NM_006973 CCDS7206 P17041 MGI:2448537 RGD:1559850 194539 HGNC:13095 "ENST00000374433.7|NM_006973.3" +HGNC:23577 ZNF32-AS1 ZNF32 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 bA402L1.8 ZNF32OS1 "zinc finger protein 32 opposite strand 1|ZNF32 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-09-02 2012-08-15 2016-11-24 414197 ENSG00000226245 OTTHUMG00000018036 uc031puq.1 NR_047557 ZNF32-AS1 HGNC:23577 +HGNC:23593 ZNF32-AS2 ZNF32 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 b402L1.7 ZNF32OS2 "zinc finger protein 32 opposite strand 2|ZNF32 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-09-02 2012-08-15 2016-11-24 414208 ENSG00000230565 OTTHUMG00000018039 uc031pur.1 NR_047558 ZNF32-AS2 HGNC:23593 +HGNC:23583 ZNF32-AS3 ZNF32 antisense RNA 3 non-coding RNA RNA, long non-coding Approved 10q11.21 10q11.21 bA402L1.3 C10orf44 "chromosome 10 open reading frame 44|ZNF32 antisense RNA 3 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-09-16 2012-08-15 2014-11-19 414201 ENSG00000223910 OTTHUMG00000018037 uc001jba.3 BC033403 NR_038867 ZNF32-AS3 HGNC:23583 +HGNC:13096 ZNF33A zinc finger protein 33A protein-coding gene gene with protein product Approved 10p11.1 10p11.1 "KOX5|KOX31|KIAA0065|FLJ23404|ZZAPK" zinc finger and ZAK associated protein with KRAB domain "ZNF33|ZNF11A" "zinc finger protein 33a (KOX 31)|zinc finger protein 11A" Zinc fingers C2H2-type 28 1990-06-13 2005-03-18 2021-04-27 7581 ENSG00000189180 OTTHUMG00000017983 uc001izh.4 D31763 NM_006974 "CCDS31182|CCDS73088|CCDS44372|CCDS73089|CCDS60514" Q06730 "2014798|8464732" 194521 HGNC:13096 "ENST00000432900.7|NM_006954.2" +HGNC:13097 ZNF33B zinc finger protein 33B protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "KOX31|KOX2" ZNF11B "zinc finger protein 33b (KOX 31)|zinc finger protein 11B" Zinc fingers C2H2-type 28 1991-09-13 2005-03-18 2021-04-27 7582 ENSG00000196693 OTTHUMG00000018014 uc001jaf.1 "X68688|AJ491697" NM_006955 CCDS7198 Q06732 2014798 194522 HGNC:13097 "ENST00000359467.8|NM_006955.3" +HGNC:44975 ZNF33BP1 zinc finger protein 33B pseudogene 1 pseudogene pseudogene Approved 10p11.21 10p11.21 2012-12-20 2021-04-27 100419868 ENSG00000225192 OTTHUMG00000017978 NR_051997 PGOHUM00000238410 HGNC:44975 +HGNC:30957 ZNF33CP zinc finger protein 33C, pseudogene pseudogene pseudogene Approved 10p11.2 10p11.2 BA393J16.4 ZNF33AP1 zinc finger protein 33A pseudogene 1 2010-04-14 2015-10-30 2015-10-30 2021-04-27 79231 ENSG00000235197 OTTHUMG00000017982 NG_002659 HGNC:30957 +HGNC:13098 ZNF34 zinc finger protein 34 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KOX32 zinc finger protein 34 (KOX 32) Zinc fingers C2H2-type 28 1990-06-13 2006-05-11 2021-04-27 80778 ENSG00000196378 OTTHUMG00000165248 uc003zdy.6 BC028136 NM_030580 "CCDS47945|CCDS69562" Q8IZ26 "8104631|2014798" RGD:7744154 194526 HGNC:13098 "ENST00000429371.7|NM_001286769.2" +HGNC:13099 ZNF35 zinc finger protein 35 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "HF.10|HF10|Zfp105" zinc finger protein 35 (clone HF.10) Zinc fingers C2H2-type 28 1990-06-11 2006-05-11 2021-04-27 7584 ENSG00000169981 OTTHUMG00000133091 uc003cnq.4 X07289 NM_003420 CCDS2718 P13682 "2108922|1572646" MGI:1277119 RGD:1309905 194533 HGNC:13099 "ENST00000396056.7|NM_003420.4" +HGNC:13102 ZNF37A zinc finger protein 37A protein-coding gene gene with protein product Approved 10p11.1 10p11.1 "KOX21|ZNF37" zinc finger protein 37a (KOX 21) Zinc fingers C2H2-type 28 1990-09-30 2006-05-11 2021-04-27 7587 ENSG00000075407 OTTHUMG00000191777 uc001izl.4 X69115 NM_003421 "CCDS31183|CCDS81451" P17032 "2014798|8464732" 616085 HGNC:13102 "ENST00000685332.1|NM_001324250.3" HGNC:13102 +HGNC:13103 ZNF37BP zinc finger protein 37B, pseudogene pseudogene pseudogene Approved 10q11.21 10q11.21 "KOX21|FLJ23327" ZNF37B "zinc finger protein 37b (KOX 21)|zinc finger protein 37B|zinc finger protein 37B (pseudogene)" Zinc fingers C2H2-type 28 1991-09-13 2010-08-03 2010-08-03 2021-04-27 100129482 ENSG00000234420 OTTHUMG00000018011 AK026980 NR_026777 "2014798|8464732" HGNC:13103 +HGNC:29445 ZNF37CP zinc finger protein 37C, pseudogene pseudogene pseudogene Approved 10p11.21 10p11.21 ZNF37C zinc finger protein 37C (pseudogene) Zinc fingers C2H2-type 28 2009-06-12 2015-05-20 2012-09-17 2021-04-27 79232 ENSG00000151963 OTTHUMG00000017981 NG_002660 PGOHUM00000290104 HGNC:29445 +HGNC:13107 ZNF41 zinc finger protein 41 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 "MGC8941|MRX89" Zinc fingers C2H2-type 28 1990-10-23 2021-04-27 7592 ENSG00000147124 OTTHUMG00000021448 uc004dhy.5 X60155 NM_153380 CCDS14279 P51814 2037297 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF41 314995 159118 HGNC:13107 "ENST00000684689.1|NM_001324144.2" HGNC:13107 +HGNC:13109 ZNF43 zinc finger protein 43 protein-coding gene gene with protein product Approved 19p12 19p12 "HTF6|KOX27" ZNF39L1 "zinc finger protein 39-like 1 (KOX 27)|zinc finger protein 43 (HTF6)" Zinc fingers C2H2-type 28 1991-02-04 2006-05-11 2021-04-27 7594 ENSG00000198521 OTTHUMG00000128543 uc002nqj.5 X59244 NM_003423 "CCDS74321|CCDS12413|CCDS59367" P17038 1711675 "MGI:1916455|MGI:2446280|MGI:2664334|MGI:3036250|MGI:3040691|MGI:3040706|MGI:3040707" RGD:1559684 603972 HGNC:13109 "ENST00000354959.9|NM_003423.4" +HGNC:13110 ZNF44 zinc finger protein 44 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "KOX7|ZNF504" "ZNF58|ZNF55" "zinc finger protein 58|zinc finger protein 44 (KOX 7)|zinc finger protein 55" Zinc fingers C2H2-type 28 1991-06-06 2006-05-11 2021-04-27 51710 ENSG00000197857 OTTHUMG00000156424 uc010dys.4 X52338 NM_016264 "CCDS54223|CCDS45988" P15621 "1946370|1505991" "MGI:2682944|MGI:3646490|MGI:4867078" 194542 HGNC:13110 "ENST00000355684.6|NM_016264.4" +HGNC:13111 ZNF45 zinc finger protein 45 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 ZNF13 "zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)|zinc finger protein 13" Zinc fingers C2H2-type 28 1991-06-06 2005-01-11 2021-04-27 7596 ENSG00000124459 OTTHUMG00000182189 uc002oxw.3 M67509 NM_003425 CCDS12632 Q02386 9067431 MGI:107610 RGD:7529325 194554 HGNC:13111 "ENST00000269973.10|NM_003425.4" +HGNC:55308 ZNF45-AS1 ZNF45 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.31 19q13.31 Antisense RNAs 1987 2020-10-16 2020-11-11 118827818 ENSG00000267191 XR_005228004 +HGNC:13114 ZNF48 zinc finger protein 48 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "DKFZp762K013|FLJ31751|MGC43952" ZNF553 zinc finger protein 553 Zinc fingers C2H2-type 28 1991-10-07 2021-04-27 197407 ENSG00000180035 OTTHUMG00000048195 uc021tgi.2 "M88358|AK056313" NM_152652 "CCDS10679|CCDS73868" Q96MX3 1505991 MGI:2384725 RGD:9115869 HGNC:13114 "ENST00000613509.2|NM_001214909.2" +HGNC:13124 ZNF56P zinc finger protein 56, pseudogene pseudogene pseudogene Approved 19p13.1 19p13.1 "ZNF742|ZNF56" "zinc finger protein 742|zinc finger protein 56" Zinc fingers C2H2-type 28 1991-10-07 2021-03-08 2021-03-08 2021-04-27 7608 ENSG00000267419 M88366 NR_171023 1505991 PGOHUM00000261271 HGNC:13124 +HGNC:13125 ZNF57 zinc finger protein 57 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ZNF424 zinc finger protein 424 Zinc fingers C2H2-type 28 1991-10-07 2021-04-27 126295 ENSG00000171970 OTTHUMG00000164485 uc002lwr.3 M88368 NM_173480 "CCDS12098|CCDS82274" Q68EA5 1505991 RGD:2301011 HGNC:13125 "ENST00000306908.10|NM_173480.3" +HGNC:13135 ZNF66 zinc finger protein 66 protein-coding gene gene with protein product Approved 19p12 19p12 FLJ16537 ZNF66P zinc finger protein 66, pseudogene Zinc fingers C2H2-type 28 1991-10-08 2013-03-06 2013-03-06 2021-04-27 7617 ENSG00000160229 OTTHUMG00000167735 uc060wfa.1 M88375 NM_001355197 Q6ZN08 1505991 HGNC:13135 "ENST00000344519.10|NM_001355197.2" +HGNC:13138 ZNF69 zinc finger protein 69 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Cos5 zinc finger protein 69 (Cos5) Zinc fingers C2H2-type 28 1991-11-28 2006-05-12 2021-04-27 7620 ENSG00000198429 OTTHUMG00000156526 uc060tvz.1 X60076 NM_021915 CCDS32914 Q9UC07 1639391 RGD:7547607 194543 HGNC:13138 "ENST00000429654.7|NM_001364730.1" +HGNC:13140 ZNF70 zinc finger protein 70 protein-coding gene gene with protein product Approved 22q11.23 22q11.23 "Cos17|MGC48959" zinc finger protein 70 (Cos17) Zinc fingers C2H2-type 28 1991-11-28 2006-05-12 2021-04-27 7621 ENSG00000187792 OTTHUMG00000150739 uc002zxs.4 X60077 NM_021916 CCDS13812 Q9UC06 1639391 194544 HGNC:13140 "ENST00000341976.5|NM_021916.4" +HGNC:13846 ZNF70P1 zinc finger protein 70 pseudogene 1 pseudogene pseudogene Approved 6p21.32 06p21.32 "dJ1033B10.7|bCX269C15.3" ZNF314P "zinc finger protein 314 pseudogene|zinc finger protein 314 (pseudogene)|zinc finger protein 314, pseudogene" 2004-01-16 2011-02-25 2011-02-25 2020-04-20 100419609 ENSG00000225463 OTTHUMG00000031147 NG_025932 PGOHUM00000243592 HGNC:13846 +HGNC:13141 ZNF71 zinc finger protein 71 protein-coding gene gene with protein product Approved 19q13.4 19q13.4 "Cos26|EZFIT" zinc finger protein 71 (Cos26) Zinc fingers C2H2-type 28 1991-11-28 2006-05-12 2021-04-27 58491 ENSG00000197951 OTTHUMG00000182157 uc002qnm.5 X60074 NM_021216 CCDS12947 Q9NQZ8 1639391 194545 HGNC:13141 "ENST00000599599.7|NM_001370215.1" +HGNC:13142 ZNF72P zinc finger protein 72, pseudogene pseudogene pseudogene Approved 22q11.1 22q11.1 Cos8 ZNF72 "zinc finger protein 72 (Cos8)|zinc finger protein 72" 1991-11-28 2011-02-25 2011-02-25 2021-04-27 100533637 ENSG00000184624 OTTHUMG00000140359 X60078 NG_028855 1639391 194546 HGNC:13142 +HGNC:13143 ZNF73P zinc finger protein 73, pseudogene pseudogene pseudogene Approved 22p11.2 22p11.2 "hZNF2|Cos12" "ZNF186|ZNF73" "zinc finger protein 73 (Cos12)|zinc finger protein 73" Zinc fingers C2H2-type 28 1991-11-28 2019-06-28 2019-06-28 2020-04-20 105379427 NG_053100 1639391 194547 HGNC:13143 +HGNC:13144 ZNF74 zinc finger protein 74 protein-coding gene gene with protein product Approved 22q11.21 22q11.21 "Cos52|Zfp520|ZNF520" zinc finger protein 74 (Cos52) Zinc fingers C2H2-type 28 1991-11-28 2006-05-12 2021-04-27 7625 ENSG00000185252 OTTHUMG00000150687 uc010gsm.5 X71623 NM_003426 "CCDS58794|CCDS42982" Q16587 "1639391|10591208" RGD:1310930 194548 HGNC:13144 "ENST00000400451.7|NM_003426.4" +HGNC:13146 ZNF75A zinc finger protein 75a protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ31529 Zinc fingers C2H2-type 28 1997-07-07 2021-04-27 7627 ENSG00000162086 OTTHUMG00000129356 uc002cut.5 X91826 NM_153028 CCDS10501 Q96N20 8661144 601473 HGNC:13146 "ENST00000669516.2|NM_001302109.2" +HGNC:13147 ZNF75BP zinc finger protein 75B, pseudogene pseudogene pseudogene Approved 12q12 12q12 ZNF75B "zinc finger protein 75B|zinc finger protein 75B (pseudogene)" Zinc fingers C2H2-type 28 1997-07-07 2010-08-03 2010-08-03 2021-04-27 7628 ENSG00000258212 OTTHUMG00000169428 X91827 NG_001214 8661144 PGOHUM00000291314 HGNC:13147 +HGNC:13148 ZNF75CP zinc finger protein 75C, pseudogene pseudogene pseudogene Approved 11q14.1 11q14.1 ZNF75C "zinc finger protein 75c|zinc finger protein 75C (pseudogene)" Zinc fingers C2H2-type 28 1997-07-07 2010-08-03 2010-08-03 2021-09-29 729944 ENSG00000288393 X91828 NG_008023 Q92670 8661144 PGOHUM00000250413 HGNC:13148 +HGNC:13145 ZNF75D zinc finger protein 75D protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "ZKSCAN24|D8C6|ZSCAN28" "ZNF82|ZNF75" zinc finger protein 75 (D8C6) "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1992-03-25 2008-06-11 2008-06-11 2021-04-27 7626 ENSG00000186376 OTTHUMG00000022482 uc033evx.2 S43109 NM_007131 "CCDS55503|CCDS14648" P51815 1505955 RGD:1584423 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF75D 314997 HGNC:13145 "ENST00000370766.8|NM_007131.5" +HGNC:13149 ZNF76 zinc finger protein 76 protein-coding gene gene with protein product Approved 6p21.31 06p21.31 "Zfp523|ZNF523" D6S229E zinc finger protein 76 (expressed in testis) Zinc fingers C2H2-type 28 1992-03-30 2011-02-25 2015-09-11 7629 ENSG00000065029 OTTHUMG00000014564 uc003oki.2 M91592 NM_003427 "CCDS4801|CCDS75435" P36508 1427894 MGI:2687278 RGD:1306239 194549 HGNC:13149 "ENST00000373953.8|NM_003427.5" +HGNC:13150 ZNF77 zinc finger protein 77 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 pT1 zinc finger protein 77 (pT1) Zinc fingers C2H2-type 28 1992-04-07 2006-05-12 2021-04-27 58492 ENSG00000175691 OTTHUMG00000180566 uc002lws.5 X65230 NM_021217 CCDS12099 Q15935 8478004 194551 HGNC:13150 "ENST00000314531.5|NM_021217.3" +HGNC:13153 ZNF79 zinc finger protein 79 protein-coding gene gene with protein product Approved 9q33.3 09q33.3 pT7 zinc finger protein 79 (pT7) Zinc fingers C2H2-type 28 1992-04-07 2006-05-12 2021-04-27 7633 ENSG00000196152 OTTHUMG00000020703 uc004bqw.5 X65232 NM_007135 "CCDS6871|CCDS69664|CCDS75904" Q15937 8478004 RGD:11394947 194552 471372 HGNC:13153 "ENST00000342483.5|NM_007135.3" +HGNC:13155 ZNF80 zinc finger protein 80 protein-coding gene gene with protein product Approved 3q13.31 03q13.31 pT17 zinc finger protein 80 (pT17) Zinc fingers C2H2-type 28 1992-04-07 2006-05-12 2021-04-27 7634 ENSG00000174255 OTTHUMG00000159332 uc062mqj.1 X65233 NM_007136 CCDS2979 P51504 8478004 RGD:7570552 194553 HGNC:13155 "ENST00000482457.4|NM_007136.4" +HGNC:13156 ZNF81 zinc finger protein 81 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 HFZ20 MRX45 "zinc finger protein 81 (HFZ20)|mental retardation, X-linked 45" Zinc fingers C2H2-type 28 1992-04-13 2006-05-12 2021-04-27 347344 ENSG00000197779 OTTHUMG00000021462 uc064ywi.1 AK126949 NM_007137 CCDS43933 P51508 "8507979|15121780" RGD:2323171 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF81 314998 168335 HGNC:13156 "ENST00000338637.13|NM_007137.5" HGNC:13156 +HGNC:13158 ZNF83 zinc finger protein 83 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "FLJ11015|HPF1" ZNF816B "zinc finger protein 83 (HPF1)|zinc finger protein 816B" Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2021-04-27 55769 ENSG00000167766 OTTHUMG00000182761 uc010epv.4 M27877 NM_018300 CCDS12854 P51522 8088807 MGI:5825588 194558 HGNC:13158 +HGNC:13159 ZNF84 zinc finger protein 84 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 HPF2 zinc finger protein 84 (HPF2) Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2021-04-27 7637 ENSG00000198040 OTTHUMG00000167939 uc001ulm.5 M27878 NM_003428 CCDS31940 P51523 618554 HGNC:13159 "ENST00000539354.6|NM_001289971.2" +HGNC:53355 ZNF84-DT ZNF84 divergent transcript non-coding RNA RNA, long non-coding Approved 12q24.33 12q24.33 Divergent transcripts 1990 2019-06-14 2019-06-14 101928597 ENSG00000246394 OTTHUMG00000167937 NR_110091 HGNC:53355 +HGNC:13160 ZNF85 zinc finger protein 85 protein-coding gene gene with protein product Approved 19p12 19p12 "HPF4|HTF1" zinc finger protein 85 (HPF4, HTF1) Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2021-04-27 7639 ENSG00000105750 OTTHUMG00000182747 uc002npg.5 U35376 NM_003429 "CCDS58657|CCDS32977" Q03923 2505992 "MGI:2664334|MGI:3040706|MGI:3040707" 603899 HGNC:13160 "ENST00000328178.13|NM_003429.5" +HGNC:13165 ZNF90 zinc finger protein 90 protein-coding gene gene with protein product Approved 19p12 19p12 HTF9 zinc finger protein 90 (HTF9) Zinc fingers C2H2-type 28 1992-04-28 2006-02-01 2021-04-27 7643 ENSG00000213988 OTTHUMG00000158057 uc002nor.3 M61870 NM_007138 CCDS46028 Q03938 8467795 603973 HGNC:13165 "ENST00000418063.3|NM_007138.2" +HGNC:12888 ZNF90P1 zinc finger protein 90 pseudogene 1 pseudogene pseudogene Approved 3q12.3 03q12.3 "ZNF108|ZNF108P" "zinc finger protein 108 (Y9)|zinc finger protein 108, pseudogene" 1992-04-28 2011-04-07 2011-04-07 2021-04-27 7661 ENSG00000241738 OTTHUMG00000159123 NG_009580 8467795 PGOHUM00000262435 HGNC:12888 +HGNC:21687 ZNF90P2 zinc finger protein 90 pseudogene 2 pseudogene pseudogene Approved 6p22.1 06p22.1 dJ111M5.3 ZNF463P "zinc finger protein 463 pseudogene|zinc finger protein 463, pseudogene" 2003-11-27 2011-04-07 2011-04-07 2021-04-27 100419606 ENSG00000233366 OTTHUMG00000031240 NG_025795 PGOHUM00000243108 HGNC:21687 +HGNC:39882 ZNF90P3 zinc finger protein 90 pseudogene 3 pseudogene pseudogene Approved 7q11.21 07q11.21 2011-04-07 2014-11-18 100873799 ENSG00000233782 OTTHUMG00000156264 NG_032367 HGNC:39882 +HGNC:13166 ZNF91 zinc finger protein 91 protein-coding gene gene with protein product Approved 19p12 19p12 "HPF7|HTF10" zinc finger protein 91 (HPF7, HTF10) Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2021-04-27 7644 ENSG00000167232 OTTHUMG00000183268 uc002nre.4 M61871 NM_003430 "CCDS74322|CCDS42541" Q05481 "2023909|2505992" "MGI:1916455|MGI:2145180|MGI:2446280|MGI:2664334|MGI:3036250|MGI:3040691|MGI:3040706|MGI:3040707" 603971 HGNC:13166 "ENST00000300619.12|NM_003430.4" +HGNC:13168 ZNF92 zinc finger protein 92 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "HPF12|TF12" zinc finger protein 92 (HTF12) Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2021-04-27 168374 ENSG00000146757 OTTHUMG00000156557 uc003ttz.5 M61872 NM_152626 "CCDS75608|CCDS47596|CCDS34646|CCDS75609" Q03936 8467795 603974 HGNC:13168 "ENST00000328747.12|NM_152626.4" +HGNC:39553 ZNF92P1Y zinc finger protein 92 pseudogene 1, Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 2011-02-25 2021-04-27 100419554 ENSG00000215603 OTTHUMG00000041017 NG_024760 PGOHUM00000233685 HGNC:39553 +HGNC:39554 ZNF92P2 zinc finger protein 92 pseudogene 2 pseudogene pseudogene Approved 19p12 19p12 2011-02-25 2021-04-27 100419705 ENSG00000269505 OTTHUMG00000182929 NG_024170 PGOHUM00000294945 HGNC:39554 +HGNC:13169 ZNF93 zinc finger protein 93 protein-coding gene gene with protein product Approved 19p12 19p12 "HPF34|TF34|FLJ12488" ZNF505 "zinc finger protein 505|zinc finger protein 93 (HTF34)" Zinc fingers C2H2-type 28 1992-04-28 2006-05-12 2021-04-27 81931 ENSG00000184635 OTTHUMG00000182371 uc002non.4 M61873 NM_031218 CCDS32973 P35789 "8467795|2023909" "MGI:107768|MGI:1920057|MGI:3040674|MGI:3040694|MGI:3040702|MGI:3040703|MGI:3040708|MGI:3044162" 603975 HGNC:13169 "ENST00000343769.6|NM_031218.4" +HGNC:13174 ZNF98 zinc finger protein 98 protein-coding gene gene with protein product Approved 19p12 19p12 "ZNF739|F7175" zinc finger protein 739 Zinc fingers C2H2-type 28 1992-04-28 2008-06-12 2010-04-20 2021-04-27 148198 ENSG00000197360 OTTHUMG00000182940 uc002nqt.3 NM_001098626 CCDS46031 A6NK75 RGD:7718701 603980 HGNC:13174 "ENST00000357774.9|NM_001098626.2" +HGNC:13175 ZNF99 zinc finger protein 99 protein-coding gene gene with protein product Approved 19p12 19p12 MGC24986 C19orf9 "zinc finger protein 99 (F8281)|chromosome 19 open reading frame 9" Zinc fingers C2H2-type 28 1992-04-28 2006-01-17 2021-04-27 7652 ENSG00000213973 OTTHUMG00000182992 uc060wjg.1 BC021822 NM_001080409 CCDS59369 A8MXY4 "MGI:1916455|MGI:2446280|MGI:2664334|MGI:3036250|MGI:3040691|MGI:3040706|MGI:3040707" 603981 HGNC:13175 "ENST00000596209.4|NM_001080409.3" +HGNC:12880 ZNF100 zinc finger protein 100 protein-coding gene gene with protein product Approved 19p13.1 19p13.1 zinc finger protein 100 (Y1) Zinc fingers C2H2-type 28 1992-04-28 2003-12-19 2021-10-21 163227 ENSG00000197020 OTTHUMG00000182872 uc002nqi.4 BC035579 NM_173531 CCDS42538 Q8IYN0 12477932 603982 HGNC:12880 "ENST00000358296.11|NM_173531.4" +HGNC:12881 ZNF101 zinc finger protein 101 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "HZF12|DKFZp570I0164" zinc finger protein 101 (Y2) Zinc fingers C2H2-type 28 1992-04-28 2004-02-10 2021-04-27 94039 ENSG00000181896 OTTHUMG00000167736 uc060wcj.1 AK097169 NM_033204 "CCDS77271|CCDS32971" Q8IZC7 11441184 "MGI:105921|MGI:1261426|MGI:1345179|MGI:1345189|MGI:1916754|MGI:1917882|MGI:1918758|MGI:1919321|MGI:1922865|MGI:1924367|MGI:2142079|MGI:2142212|MGI:2143755|MGI:2385058|MGI:2385298|MGI:2385315|MGI:2385323|MGI:2441662|MGI:2441896|MGI:26753" 603983 HGNC:12881 "ENST00000592502.2|NM_033204.4" +HGNC:44940 ZNF101P1 zinc finger protein 101 pseudogene 1 pseudogene pseudogene Approved 10p12.1 10p12.1 2012-12-19 2021-04-27 100419867 ENSG00000237746 OTTHUMG00000017869 NG_025421 PGOHUM00000238382 HGNC:44940 +HGNC:44942 ZNF101P2 zinc finger protein 101 pseudogene 2 pseudogene pseudogene Approved 1q31.2 01q31.2 2012-12-19 2012-12-19 730190 ENSG00000234473 OTTHUMG00000035560 NG_022749 PGOHUM00000244381 HGNC:44942 +HGNC:12886 ZNF106 zinc finger protein 106 protein-coding gene gene with protein product Approved 15q15.1 15q15.1 "ZNF474|SH3BP3" SH3-domain binding protein 3 ZFP106 zinc finger protein 106 homolog (mouse) "Zinc fingers C2H2-type|WD repeat domain containing" "28|362" 1992-04-28 2012-11-27 2014-11-18 64397 ENSG00000103994 OTTHUMG00000173244 uc001zpw.5 AF205632 NM_022473 "CCDS32208|CCDS61602|CCDS61603" Q9H2Y7 MGI:1270153 RGD:1593644 HGNC:12886 "ENST00000564754.7|NM_001366845.3" +HGNC:12887 ZNF107 zinc finger protein 107 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "ZFD25|smap-7" ZNF588 "zinc finger protein 588|zinc finger protein 107 (Y8)" "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 1992-04-28 2007-06-26 2021-04-27 51427 ENSG00000196247 OTTHUMG00000129433 uc032zog.1 AB027251 NM_016220 "CCDS5527|CCDS75606|CCDS75605" Q9UII5 8467795 "MGI:1916455|MGI:2664334|MGI:3036250|MGI:3040691|MGI:3040706|MGI:3040707" 603989 HGNC:12887 "ENST00000620827.6|NM_001282359.2" +HGNC:12892 ZNF112 zinc finger protein 112 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "ZFP112|ZNF228" "zinc finger protein 112 homolog (mouse)|zinc finger protein 228" Zinc fingers C2H2-type 28 1992-04-28 2012-11-27 2021-04-27 7771 ENSG00000062370 OTTHUMG00000182357 uc002ozc.5 AF198358 NM_013380 "CCDS12637|CCDS54276" Q9UJU3 MGI:1929115 RGD:1305757 603994 HGNC:12892 "ENST00000354340.9|NM_013380.4" HGNC:12892 +HGNC:12894 ZNF114 zinc finger protein 114 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 MGC17986 Zinc fingers C2H2-type 28 1992-04-28 2021-04-27 163071 ENSG00000178150 OTTHUMG00000183191 uc002pil.2 BC014935 NM_153608 CCDS12713 Q8NC26 603996 HGNC:12894 "ENST00000595607.6|NM_153608.4" +HGNC:53930 ZNF114-AS1 ZNF114 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 AC008392.1 Antisense RNAs 1987 2018-06-13 2018-06-13 105372429 ENSG00000268186 OTTHUMG00000183195 XR_936008 HGNC:53930 +HGNC:23771 ZNF114P1 zinc finger protein 114 pseudogene 1 pseudogene pseudogene Approved 21q11.2 21q11.2 2003-12-15 2020-04-20 100132509 ENSG00000234538 OTTHUMG00000155503 NG_023336 PGOHUM00000239137 HGNC:23771 +HGNC:12897 ZNF117 zinc finger protein 117 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 "HPF9|H-plk" zinc finger protein 117 (HPF9) Zinc fingers C2H2-type 28 1992-05-19 2006-06-12 2021-09-24 51351 ENSG00000152926 OTTHUMG00000156631 uc003ttr.3 M27879 NM_024498 CCDS43593 Q03924 1427907 194624 HGNC:12897 +HGNC:12904 ZNF121 zinc finger protein 121 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "ZHC32|ZNF20" D19S204 zinc finger protein 121 (clone ZHC32) Zinc fingers C2H2-type 28 1992-08-24 2006-08-22 2021-04-27 7675 ENSG00000197961 OTTHUMG00000180134 uc010dwt.3 M99593 NM_001008727 "CCDS32902|CCDS77228" P58317 8468057 RGD:2323078 194628 HGNC:12904 "ENST00000320451.7|NM_001008727.5" +HGNC:12906 ZNF123P zinc finger protein 123, pseudogene pseudogene pseudogene Approved 11q24.3 11q24.3 HZF-1 ZNF123 "zinc finger protein 123 (HZF-1)|zinc finger protein 123|zinc finger protein 123 pseudogene|zinc finger protein 123 (pseudogene)" 1992-09-24 2008-06-13 2010-08-03 2021-04-27 100188891 ENSG00000255259 OTTHUMG00000165775 S52506 NG_008436 1339395 194630 PGOHUM00000242536 HGNC:12906 +HGNC:12907 ZNF124 zinc finger protein 124 protein-coding gene gene with protein product Approved 1q44 01q44 "HZF16|HZF-16" zinc finger protein 124 (HZF-16) Zinc fingers C2H2-type 28 1992-09-24 2006-06-13 2021-04-27 7678 ENSG00000196418 OTTHUMG00000041112 uc001ick.4 S54641 NM_003431 "CCDS31089|CCDS58067|CCDS73057|CCDS76278" Q15973 7916577 RGD:11429468 194631 HGNC:12907 "ENST00000543802.3|NM_001297568.2" +HGNC:12915 ZNF131 zinc finger protein 131 protein-coding gene gene with protein product Approved 5p12 05p12 "ZBTB35|pHZ-10" zinc finger and BTB domain containing 35 zinc finger protein 131 (clone pHZ-10) "Zinc fingers C2H2-type|BTB domain containing" "28|861" 1993-02-11 2006-06-13 2014-11-18 7690 ENSG00000172262 OTTHUMG00000162223 uc063dij.1 U09410 NM_003432 "CCDS43313|CCDS78005" P52739 MGI:1919715 RGD:1307638 604073 HGNC:12915 "ENST00000682664.1|NM_001330707.2" +HGNC:12916 ZNF132 zinc finger protein 132 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 pHZ-12 zinc finger protein 132 (clone pHZ-12) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2021-04-27 7691 ENSG00000131849 OTTHUMG00000183537 uc002qst.4 U09411 NM_003433 CCDS12980 P52740 7557990 604074 HGNC:12916 "ENST00000254166.4|NM_003433.4" +HGNC:55273 ZNF132-DT ZNF132 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Divergent transcripts 1990 2020-10-02 2020-10-02 118827803 ENSG00000269473 +HGNC:12917 ZNF133 zinc finger protein 133 protein-coding gene gene with protein product Approved 20p11.23 20p11.23 "pHZ-13|pHZ-66" ZNF150 "zinc finger protein 150 (pHZ-66)|zinc finger protein 133 (clone pHZ-13)" Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2021-04-27 7692 ENSG00000125846 OTTHUMG00000031965 uc032pck.2 AK123005 NM_003434 "CCDS13134|CCDS63234|CCDS63233" P52736 "7557990|7649249" RGD:1566283 604075 HGNC:12917 "ENST00000425686.3|NM_001352452.2" +HGNC:40618 ZNF133-AS1 ZNF133 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.23 20p11.23 Antisense RNAs 1987 2020-04-16 2020-04-16 105372550 ENSG00000237259 OTTHUMG00000031966 XR_007067543 +HGNC:12918 ZNF134 zinc finger protein 134 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 pHZ-15 zinc finger protein 134 (clone pHZ-15) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2021-04-27 7693 ENSG00000213762 OTTHUMG00000183471 uc002qpn.3 U09412 NM_003435 CCDS42638 P52741 7557990 604076 HGNC:12918 "ENST00000396161.10|NM_003435.5" +HGNC:12919 ZNF135 zinc finger protein 135 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 pHZ-17 "ZNF61|ZNF78L1" "zinc finger protein 61|zinc finger protein 135 (clone pHZ-17)" Zinc fingers C2H2-type 28 1993-02-11 2006-05-12 2021-04-27 7694 ENSG00000176293 OTTHUMG00000160719 uc002qrd.3 U09413 NM_003436 "CCDS74472|CCDS74471|CCDS54330|CCDS54329|CCDS12970" P52742 "7557990|1505991" 604077 HGNC:12919 "ENST00000313434.10|NM_001289401.2" +HGNC:12920 ZNF136 zinc finger protein 136 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 pHZ-20 zinc finger protein 136 (clone pHZ-20) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2021-04-27 7695 ENSG00000196646 OTTHUMG00000156429 uc002mti.4 U09367 NM_003437 CCDS32916 P52737 7557990 MGI:2681848 604078 HGNC:12920 "ENST00000343979.6|NM_003437.5" +HGNC:12921 ZNF137P zinc finger protein 137, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 pHZ-30 ZNF137 "zinc finger protein 137 (clone pHZ-30)|zinc finger protein 137|zinc finger protein 137 (pseudogene)" 1993-02-11 2010-08-03 2010-08-03 2021-04-27 7696 ENSG00000123870 OTTHUMG00000154335 U09414 NR_023311 P52743 7557990 604079 HGNC:12921 +HGNC:12922 ZNF138 zinc finger protein 138 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 pHZ-32 zinc finger protein 138 (clone pHZ-32) Zinc fingers C2H2-type 28 1993-02-11 2005-07-11 2021-04-27 7697 ENSG00000197008 OTTHUMG00000156603 uc003ttg.5 U09847 NM_006524 "CCDS64659|CCDS64660|CCDS55115|CCDS75607|CCDS64661|CCDS34645" P52744 604080 HGNC:12922 "ENST00000307355.12|NM_001271639.2" +HGNC:12925 ZNF140 zinc finger protein 140 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 pHZ-39 zinc finger protein 140 (clone pHZ-39) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2021-04-27 7699 ENSG00000196387 OTTHUMG00000167942 uc001ulo.4 U09368 NM_003440 "CCDS73550|CCDS9282" P52738 7557990 604082 HGNC:12925 "ENST00000355557.7|NM_003440.4" +HGNC:12926 ZNF141 zinc finger protein 141 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 pHZ-44 D4S90 zinc finger protein 141 (clone pHZ-44) "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 1993-02-11 2006-06-13 2021-04-27 7700 ENSG00000131127 OTTHUMG00000159852 uc003gaa.3 L15309 NM_003441 "CCDS33931|CCDS87195" Q15928 8268908 194648 323464 HGNC:12926 "ENST00000240499.8|NM_003441.4" HGNC:12926 +HGNC:12927 ZNF142 zinc finger protein 142 protein-coding gene gene with protein product Approved 2q35 02q35 "KIAA0236|pHZ-49" zinc finger protein 142 (clone pHZ-49) Zinc fingers C2H2-type 28 1993-02-11 2006-06-13 2021-04-27 7701 ENSG00000115568 OTTHUMG00000154736 uc061smv.1 U09849 NM_005081 CCDS42817 P52746 MGI:1924514 RGD:1309648 604083 HGNC:12927 "ENST00000411696.7|NM_001379659.1" HGNC:12927 +HGNC:12928 ZNF143 zinc finger protein 143 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "SBF|pHZ-1|STAF" zinc finger protein 143 (clone pHZ-1) Zinc fingers C2H2-type 28 1993-06-07 2006-06-13 2014-11-18 7702 ENSG00000166478 OTTHUMG00000149922 uc001mhr.3 U09850 NM_003442 "CCDS7799|CCDS60721|CCDS60720" P52747 MGI:1277969 RGD:1305662 603433 HGNC:12928 "ENST00000396602.7|NM_003442.6" +HGNC:12931 ZNF146 zinc finger protein 146 protein-coding gene gene with protein product Approved 19q13.1 19q13.1 OZF Zinc fingers C2H2-type 28 1993-11-01 2021-04-27 7705 ENSG00000167635 OTTHUMG00000180511 uc010eeu.4 X70394 NM_007145 CCDS12492 Q15072 "10449921|8641144" MGI:1347092 RGD:7630088 601505 HGNC:12931 "ENST00000443387.3|NM_007145.3" +HGNC:12933 ZNF148 zinc finger protein 148 protein-coding gene gene with protein product Approved 3q21.2 03q21.2 "BERF-1|ZBP-89|BFCOL1|HT-BETA|ZFP148|pHZ-52" zinc finger protein 148 (pHZ-52) Zinc fingers C2H2-type 28 1994-03-16 2006-06-13 2015-08-26 7707 ENSG00000163848 OTTHUMG00000159448 uc003ehx.5 U09851 NM_021964 CCDS3031 Q9UQR1 "7557990|9925940" MGI:1332234 RGD:62063 601897 HGNC:12933 "ENST00000360647.9|NM_021964.3" HGNC:12933 +HGNC:12939 ZNF154 zinc finger protein 154 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 pHZ-92 zinc finger protein 154 (pHZ-92) Zinc fingers C2H2-type 28 1994-03-16 2006-08-22 2021-04-27 7710 ENSG00000179909 OTTHUMG00000140375 uc061dmm.1 U20648 NM_001085384 CCDS42639 Q13106 7557990 604085 HGNC:12939 "ENST00000684351.1|NM_001085384.3" +HGNC:12940 ZNF155 zinc finger protein 155 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 pHZ-96 zinc finger protein 155 (pHZ-96) Zinc fingers C2H2-type 28 1994-03-16 2006-08-22 2021-04-27 7711 ENSG00000204920 OTTHUMG00000182215 uc031rlg.1 U09852 NM_003445 "CCDS12634|CCDS58668" Q12901 7557990 604086 HGNC:12940 "ENST00000270014.7|NM_198089.3" +HGNC:12942 ZNF157 zinc finger protein 157 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 HZF22 zinc finger protein 157 (HZF22) "Zinc fingers C2H2-type|Small nucleolar RNA protein coding host genes" "28|1835" 1994-04-14 2006-08-22 2021-04-27 7712 ENSG00000147117 OTTHUMG00000021443 uc004dhr.2 U28687 NM_003446 CCDS14278 P51786 8586441 RGD:1359435 300024 HGNC:12942 "ENST00000377073.4|NM_003446.4" +HGNC:12948 ZNF160 zinc finger protein 160 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "HZF5|F11|KR18|HKr18|FLJ00032|KIAA1611" Zinc fingers C2H2-type 28 1994-07-04 2021-04-27 90338 ENSG00000170949 OTTHUMG00000182854 uc010eqk.3 X78928 NM_033288 "CCDS82392|CCDS82391|CCDS12859" Q9HCG1 "7774943|7865130" MGI:108187 600398 HGNC:12948 "ENST00000683776.1|NM_001322131.2" +HGNC:12953 ZNF165 zinc finger protein 165 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZSCAN7|CT53" cancer/testis antigen 53 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1995-02-17 2021-04-27 7718 ENSG00000197279 OTTHUMG00000014505 uc021yro.2 U78722 NM_003447 CCDS4643 P49910 7490084 600834 HGNC:12953 "ENST00000683778.1|NM_001376491.1" +HGNC:12957 ZNF169 zinc finger protein 169 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 MGC51961 Zinc fingers C2H2-type 28 1995-04-24 2021-04-27 169841 ENSG00000175787 OTTHUMG00000020264 uc004aum.2 U28322 NM_194320 CCDS6709 Q14929 "9186526|9071574" MGI:1915161 RGD:1304631 603404 HGNC:12957 "ENST00000395395.7|NM_194320.4" +HGNC:12963 ZNF174 zinc finger protein 174 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 ZSCAN8 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1995-07-11 2021-04-27 7727 ENSG00000103343 OTTHUMG00000129358 uc002cvc.5 U31248 NM_003450 "CCDS32380|CCDS10504|CCDS86501" Q15697 MGI:2686600 RGD:7498198 603900 HGNC:12963 "ENST00000268655.5|NM_003450.3" +HGNC:12964 ZNF175 zinc finger protein 175 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 OTK18 Zinc fingers C2H2-type 28 1995-12-12 2021-04-27 7728 ENSG00000105497 OTTHUMG00000167771 uc002pxb.4 D50419 NM_007147 CCDS12837 Q9Y473 8838321 MGI:1917180 RGD:7510716 601139 HGNC:12964 "ENST00000262259.7|NM_007147.4" +HGNC:12966 ZNF177 zinc finger protein 177 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zinc fingers C2H2-type 28 1995-09-11 2021-04-27 7730 ENSG00000188629 OTTHUMG00000179943 uc002mlk.4 "U37263|BC012012" NM_003451 "CCDS12212|CCDS54214" Q13360 601276 HGNC:12966 "ENST00000683217.1|NM_001172651.2" +HGNC:12970 ZNF180 zinc finger protein 180 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 HHZ168 zinc finger protein 180 (HHZ168) Zinc fingers C2H2-type 28 1995-11-22 2006-08-22 2021-04-27 7733 ENSG00000167384 OTTHUMG00000180495 uc002ozf.6 AF192913 NM_013256 "CCDS62707|CCDS12639|CCDS62708" Q9UJW8 MGI:1923701 RGD:631380 606740 HGNC:12970 "ENST00000592529.6|NM_001278509.3" +HGNC:12971 ZNF181 zinc finger protein 181 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "HHZ181|MGC44316" zinc finger protein 181 (HHZ181) Zinc fingers C2H2-type 28 1995-11-22 2006-04-27 2021-04-27 339318 ENSG00000197841 OTTHUMG00000157508 uc002nvu.4 "BC104759|H54888" NM_001029997 "CCDS46043|CCDS32990" Q2M3W8 606741 HGNC:12971 "ENST00000492450.3|NM_001029997.4" +HGNC:13001 ZNF182 zinc finger protein 182 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "KOX14|HHZ150|Zfp182" ZNF21 "zinc finger protein 182 (HHZ150)|zinc finger protein 21 (KOX 14)" Zinc fingers C2H2-type 28 1990-06-13 2006-05-10 2006-05-10 2021-04-27 7569 ENSG00000147118 OTTHUMG00000021460 uc004dit.4 "AK122874|R98366" NM_006962 "CCDS35236|CCDS35235" P17025 "8088786|2014798|8914609" MGI:2442220 RGD:6490591 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF182 314993 HGNC:13001 "ENST00000376943.8|NM_001007088.2" +HGNC:12975 ZNF184 zinc finger protein 184 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 zinc finger protein 184 (Kruppel-like) Zinc fingers C2H2-type 28 1996-11-15 2006-06-28 2021-04-27 7738 ENSG00000096654 OTTHUMG00000014478 uc003nji.4 U66561 NM_007149 CCDS4624 Q99676 MGI:1922244 RGD:1304798 602277 HGNC:12975 "ENST00000683788.1|NM_001318891.2" +HGNC:12976 ZNF185 zinc finger protein 185 with LIM domain protein-coding gene gene with protein product Approved Xq28 Xq28 SCELL sciellin like zinc finger protein 185 (LIM domain) LIM domain containing 1218 1996-12-12 2017-02-28 2020-04-02 7739 ENSG00000147394 OTTHUMG00000024187 uc010ntv.3 AK056517 NM_007150 "CCDS55530|CCDS48184|CCDS55528|CCDS69832|CCDS55532|CCDS55529|CCDS55531" O15231 9268636 MGI:108095 RGD:1586351 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF185 300381 HGNC:12976 +HGNC:12980 ZNF189 zinc finger protein 189 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 Zinc fingers C2H2-type 28 1996-12-12 2021-04-27 7743 ENSG00000136870 OTTHUMG00000020383 uc004bbh.3 AF025770 NM_003452 "CCDS6755|CCDS6754|CCDS75867|CCDS65096" O75820 9653648 MGI:2444707 RGD:1306510 603132 HGNC:12980 "ENST00000339664.7|NM_003452.4" +HGNC:12986 ZNF195 zinc finger protein 195 protein-coding gene gene with protein product Approved 11p15.5 11p15.5 Zinc fingers C2H2-type 28 1997-07-22 2021-04-27 7748 ENSG00000005801 OTTHUMG00000011694 uc001lxs.4 NM_001130519 "CCDS41604|CCDS44521|CCDS44522|CCDS55736|CCDS55737|CCDS58111" O14628 9344677 "MGI:107768|MGI:1920208" 602187 HGNC:12986 "ENST00000399602.9|NM_001130520.3" +HGNC:12988 ZNF197 zinc finger protein 197 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "P18|D3S1363E|ZKSCAN9|ZSCAN41" ZNF166 zinc finger protein 166 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-09-29 2003-10-07 2021-04-27 10168 ENSG00000186448 OTTHUMG00000133089 uc003cnm.4 AF011573 NM_006991 "CCDS2717|CCDS33743" O14709 "9380504|8353497" 618359 HGNC:12988 "ENST00000344387.9|NM_006991.5" +HGNC:40620 ZNF197-AS1 ZNF197 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p21.31 03p21.31 ZNF197 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-07 2012-08-15 2016-11-24 100874094 ENSG00000233509 OTTHUMG00000156308 uc062ivj.1 NR_046658 ZNF197-AS1 HGNC:40620 +HGNC:12993 ZNF200 zinc finger protein 200 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Zinc fingers C2H2-type 28 1997-08-28 2021-04-27 7752 ENSG00000010539 OTTHUMG00000129317 uc002cuk.2 AF060866 NM_001145446 "CCDS10497|CCDS42112|CCDS45395" P98182 "9288094|9787081" 603231 HGNC:12993 "ENST00000414144.7|NM_198088.3" +HGNC:12994 ZNF202 zinc finger protein 202 protein-coding gene gene with protein product Approved 11q23.3 11q23.3 "ZKSCAN10|ZSCAN42" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1997-10-16 2021-04-27 7753 ENSG00000166261 OTTHUMG00000166008 uc001pze.2 AF027219 NM_003455 CCDS8443 O95125 9790754 MGI:1933401 RGD:1562294 603430 HGNC:12994 "ENST00000530393.6|NM_003455.4" +HGNC:12995 ZNF204P zinc finger protein 204, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "b24o18.1|ZNF184-Lp" "ZNF204|ZNF315P" "zinc finger protein 204|zinc finger protein 204 (pseudogene)|zinc finger protein 315, pseudogene|zinc finger protein 315 pseudogene|zinc finger protein 315 (pseudogene)" 1997-11-20 2009-11-20 2010-08-03 2021-04-27 7754 ENSG00000204789 OTTHUMG00000016415 AF033199 NR_002722 9628832 603282 HGNC:12995 +HGNC:12996 ZNF205 zinc finger protein 205 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 Zfp13 ZNF210 Zinc fingers C2H2-type 28 1998-01-16 2021-04-27 7755 ENSG00000122386 OTTHUMG00000148676 uc002cua.4 AF060865 NM_003456 CCDS10494 O95201 9787081 MGI:99159 RGD:1304577 603436 HGNC:12996 "ENST00000219091.9|NM_001042428.2" +HGNC:28586 ZNF205-AS1 ZNF205 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 MGC3771 Antisense RNAs 1987 2012-11-06 2017-02-17 81854 NR_024166 12477932 HGNC:28586 +HGNC:12998 ZNF207 zinc finger protein 207 protein-coding gene gene with protein product Approved 17q11.2 17q11.2 BuGZ "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 1998-02-09 2020-11-17 7756 ENSG00000010244 OTTHUMG00000132810 uc002hhh.5 AF046001 NM_001032293 "CCDS11271|CCDS32614|CCDS42294" O43670 "9799612|24462186" MGI:1340045 RGD:1308121 603428 HGNC:12998 "ENST00000394670.9|NM_001098507.2" +HGNC:12999 ZNF208 zinc finger protein 208 protein-coding gene gene with protein product Approved 19p12 19p12 "PMIDP|ZNF95" zinc finger protein 95 Zinc fingers C2H2-type 28 1998-03-10 2021-04-27 7757 ENSG00000160321 OTTHUMG00000182913 uc060wic.1 BC038199 NM_007153 "CCDS86734|CCDS54240" O43345 9724325 "MGI:1916455|MGI:2446280|MGI:2664334|MGI:3036250|MGI:3040706|MGI:3040707" 603977 HGNC:12999 "ENST00000397126.9|NM_007153.3" +HGNC:13000 ZNF209P zinc finger protein 209, pseudogene pseudogene pseudogene Approved 19p12 19p12 ZNF209 zinc finger protein 209 (pseudogene) 1998-03-16 2009-11-20 2010-08-03 2021-04-27 441843 ENSG00000269138 OTTHUMG00000182979 NG_021760 9724325 PGOHUM00000295294 HGNC:13000 +HGNC:13003 ZNF211 zinc finger protein 211 protein-coding gene gene with protein product Approved 19q13.4 19q13.4 "ZNF-25|CH2H2-25" Zinc fingers C2H2-type 28 1999-09-29 2021-04-27 10520 ENSG00000121417 OTTHUMG00000168012 uc031rng.2 U38904 NM_001265597 "CCDS12956|CCDS12957|CCDS58686|CCDS58687|CCDS58688|CCDS74468" Q13398 "7633419|9096115" 601856 HGNC:13003 "ENST00000240731.5|NM_006385.5" +HGNC:13004 ZNF212 zinc finger protein 212 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 C2H2-150 Zinc fingers C2H2-type 28 1999-09-29 2021-04-27 7988 ENSG00000170260 OTTHUMG00000158968 uc003wfp.3 U38864 NM_012256 CCDS5896 Q9UDV6 9169157 MGI:2682609 RGD:1307836 602386 HGNC:13004 "ENST00000335870.7|NM_012256.4" +HGNC:13005 ZNF213 zinc finger protein 213 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "CR53|ZKSCAN21|ZSCAN53" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1998-03-23 2007-02-20 2007-02-20 2021-04-27 7760 ENSG00000085644 OTTHUMG00000177519 uc059pvx.1 AF017433 NM_004220 CCDS10495 O14771 "9653642|10023065" MGI:3053094 RGD:1305919 608387 HGNC:13005 "ENST00000396878.8|NM_004220.3" +HGNC:50505 ZNF213-AS1 ZNF213 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 16p13.3 16p13.3 Antisense RNAs 1987 2014-05-13 2014-05-13 2021-03-08 100507458 ENSG00000263072 OTTHUMG00000177518 NR_110900 32718982 HGNC:50505 +HGNC:13006 ZNF214 zinc finger protein 214 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 Zinc fingers C2H2-type 28 1998-03-23 2021-04-27 7761 ENSG00000149050 OTTHUMG00000165618 uc001mfa.3 AF056617 NM_001354830 CCDS31418 Q9UL59 605015 HGNC:13006 "ENST00000278314.5|NM_013249.4" +HGNC:13007 ZNF215 zinc finger protein 215 protein-coding gene gene with protein product Approved 11p15.4 11p15.4 "ZKSCAN11|ZSCAN43" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1998-03-23 2021-04-27 7762 ENSG00000149054 OTTHUMG00000165507 uc001mey.4 AF056618 NM_001354853 "CCDS86177|CCDS7775" Q9UL58 605016 HGNC:13007 "ENST00000278319.10|NM_013250.4" HGNC:13007 +HGNC:13009 ZNF217 zinc finger protein 217 protein-coding gene gene with protein product Approved 20q13.2 20q13.2 ZABC1 Zinc fingers C2H2-type 28 1998-08-13 2014-11-19 7764 ENSG00000171940 OTTHUMG00000032764 uc002xwq.5 AF041259 NM_006526 CCDS13443 O75362 9671742 MGI:2685408 RGD:1308451 602967 HGNC:13009 "ENST00000371471.7|NM_006526.3" +HGNC:13011 ZNF219 zinc finger protein 219 protein-coding gene gene with protein product Approved 14q11 14q11 Zinc fingers C2H2-type 28 2000-07-31 2014-11-18 51222 ENSG00000165804 OTTHUMG00000029647 uc010aik.2 AB015427 NM_001101672 CCDS9568 Q9P2Y4 10819330 MGI:1917140 RGD:1359259 605036 HGNC:13011 "ENST00000360947.8|NM_016423.3" HGNC:13011 +HGNC:13014 ZNF221 zinc finger protein 221 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2021-04-27 7638 ENSG00000159905 OTTHUMG00000182214 uc002oxx.3 AF187987 NM_001297588 CCDS12633 Q9UK13 MGI:5591846 HGNC:13014 "ENST00000587682.6|NM_001297588.2" +HGNC:13015 ZNF222 zinc finger protein 222 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2021-04-27 7673 ENSG00000159885 OTTHUMG00000182309 uc002oyc.4 AF187988 NM_001129996 "CCDS33045|CCDS46098" Q9UK12 617357 HGNC:13015 "ENST00000391960.4|NM_001129996.2" +HGNC:55310 ZNF222-DT ZNF222 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.31 19q13.31 Divergent transcripts 1990 2020-10-19 2020-10-19 105372414 ENSG00000267144 XR_007067265 +HGNC:13016 ZNF223 zinc finger protein 223 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2021-04-27 7766 ENSG00000178386 OTTHUMG00000182311 uc002oyf.2 AF187989 NM_013361 CCDS12635 Q9UK11 HGNC:13016 "ENST00000434772.8|NM_013361.6" +HGNC:13017 ZNF224 zinc finger protein 224 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "BMZF-2|KOX22" "ZNF255|ZNF27" "zinc finger protein 255|zinc finger protein 27" Zinc fingers C2H2-type 28 1998-08-13 2004-02-13 2021-04-27 7767 ENSG00000267680 OTTHUMG00000182313 uc002oyh.3 AF187990 NM_013398 CCDS33046 Q9NZL3 194555 HGNC:13017 "ENST00000693561.1|NM_001321645.3" +HGNC:13018 ZNF225 zinc finger protein 225 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2021-04-27 7768 ENSG00000256294 OTTHUMG00000182336 uc002oyj.2 AF187991 NM_001321685 CCDS46100 Q9UK10 HGNC:13018 "ENST00000262894.11|NM_013362.4" +HGNC:55916 ZNF225-AS1 ZNF225 and ZNF224 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.31 19q13.31 ZNF225 antisense RNA 1 2021-10-11 2021-10-11 2021-10-11 100379224 ENSG00000186019 NR_033341 +HGNC:13019 ZNF226 zinc finger protein 226 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2012-09-11 2012-09-11 2021-04-27 7769 ENSG00000167380 OTTHUMG00000182351 uc002oyp.4 AF024707 NM_001032372 "CCDS46103|CCDS46102" Q9NYT6 MGI:99663 RGD:620595 HGNC:13019 "ENST00000337433.10|NM_001032373.2" +HGNC:13020 ZNF227 zinc finger protein 227 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2021-04-27 7770 ENSG00000131115 OTTHUMG00000182352 uc002oyv.5 AK092253 NM_182490 "CCDS74388|CCDS12636" Q86WZ6 HGNC:13020 "ENST00000313040.12|NM_182490.3" +HGNC:13022 ZNF229 zinc finger protein 229 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1998-08-13 2021-04-27 7772 ENSG00000278318 OTTHUMG00000182377 uc032hzj.2 AF192979 NM_014518 "CCDS42574|CCDS62706" Q9UJW7 HGNC:13022 "ENST00000614049.5|NM_014518.4" HGNC:13022 +HGNC:13024 ZNF230 zinc finger protein 230 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FDZF2 Zinc fingers C2H2-type 28 1998-08-13 2021-04-27 7773 ENSG00000159882 OTTHUMG00000182307 uc002oyb.2 U95044 NM_006300 CCDS33044 Q9UIE0 HGNC:13024 "ENST00000429154.7|NM_006300.4" +HGNC:55316 ZNF230-DT ZNF230 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.31 19q13.31 Divergent transcripts 1990 2020-10-19 2020-10-19 101928063 ENSG00000266921 NR_110727 +HGNC:13026 ZNF232 zinc finger protein 232 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 ZSCAN11 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1998-08-06 2021-04-27 7775 ENSG00000167840 OTTHUMG00000099450 uc002gat.4 AF080169 NM_014519 "CCDS11068|CCDS82043" Q9UNY5 11311944 616463 HGNC:13026 +HGNC:40623 ZNF232-AS1 ZNF232 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Antisense RNAs 1987 2020-04-16 2020-04-16 101928000 ENSG00000234327 OTTHUMG00000132913 NR_135657 +HGNC:30946 ZNF233 zinc finger protein 233 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ38032 Zinc fingers C2H2-type 28 2005-01-07 2021-04-27 353355 ENSG00000159915 OTTHUMG00000182354 uc002oyz.3 AY166792 NM_181756 "CCDS33047|CCDS82363" A6NK53 12743021 HGNC:30946 "ENST00000683810.1|NM_001207005.2" +HGNC:13027 ZNF234 zinc finger protein 234 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 HZF4 ZNF269 Zinc fingers C2H2-type 28 1999-07-29 2021-04-27 10780 ENSG00000263002 OTTHUMG00000182337 uc002oym.4 X78927 NM_001144824 CCDS46101 Q14588 7865130 604750 HGNC:13027 "ENST00000426739.7|NM_006630.3" +HGNC:12866 ZNF235 zinc finger protein 235 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "HZF6|ANF270" "ZNF270|ZFP93" zinc finger protein homologous to Zfp93 in mouse Zinc fingers C2H2-type 28 1999-07-19 2002-11-08 2002-11-04 2021-04-27 9310 ENSG00000159917 OTTHUMG00000182353 uc002oza.5 X78929 NM_004234 CCDS33048 Q14590 "7865130|9570955" MGI:1929117 RGD:7536417 604749 HGNC:12866 "ENST00000291182.9|NM_004234.4" +HGNC:13028 ZNF236 zinc finger protein 236 protein-coding gene gene with protein product Approved 18q23 18q23 Zinc fingers C2H2-type 28 1998-08-26 2019-08-21 7776 ENSG00000130856 OTTHUMG00000179331 uc002lmi.4 AF085243 NM_001306089 "CCDS77201|CCDS42447" Q9UL36 10458916 MGI:1926950 RGD:1309670 604760 HGNC:13028 "ENST00000320610.14|NM_001306089.2" +HGNC:53779 ZNF236-DT ZNF236 divergent transcript non-coding RNA RNA, long non-coding Approved 18q23 18q23 Divergent transcripts 1990 2017-11-17 2017-11-17 100131655 ENSG00000264278 OTTHUMG00000179330 NR_040024 HGNC:53779 +HGNC:13031 ZNF239 zinc finger protein 239 protein-coding gene gene with protein product Approved 10q11.22-q11.23 10q11.22-q11.23 "MOK2|HOK-2" Zinc fingers C2H2-type 28 1998-11-06 2021-04-27 8187 ENSG00000196793 OTTHUMG00000018033 uc009xmk.4 X82125 NM_001099282 CCDS41502 Q16600 "8903737|8587123" MGI:1306812 RGD:6502210 601069 HGNC:13031 "ENST00000374446.7|NM_001099282.2" +HGNC:13041 ZNF248 zinc finger protein 248 protein-coding gene gene with protein product Approved 10p11.21 10p11.21 bA162G10.3 Zinc fingers C2H2-type 28 1998-11-30 2021-04-27 57209 ENSG00000198105 OTTHUMG00000017980 uc010qeu.2 AJ491695 NM_021045 "CCDS7194|CCDS58077|CCDS86083|CCDS73087" Q8NDW4 12566394 MGI:1919970 RGD:1561270 HGNC:13041 "ENST00000395867.8|NM_021045.3" +HGNC:13044 ZNF250 zinc finger protein 250 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 "MGC9718|ZFP647" ZNF647 zinc finger protein 647 Zinc fingers C2H2-type 28 1998-11-30 2004-11-08 2021-04-27 58500 ENSG00000196150 OTTHUMG00000165252 uc003zeq.4 AK095705 NM_021061 "CCDS55282|CCDS34972" P15622 20346131 MGI:3052806 RGD:1308203 HGNC:13044 "ENST00000417550.7|NM_001109689.4" +HGNC:13045 ZNF251 zinc finger protein 251 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 Zinc fingers C2H2-type 28 1998-11-30 2021-04-27 90987 ENSG00000198169 OTTHUMG00000165189 uc003zdv.5 AK000435 NM_138367 CCDS47944 Q9BRH9 MGI:1918841 RGD:1311138 HGNC:13045 "ENST00000292562.12|NM_138367.2" +HGNC:13046 ZNF252P zinc finger protein 252, pseudogene pseudogene pseudogene Approved 8q24.3 08q24.3 ZNF252 zinc finger protein 252 1998-11-30 2012-04-19 2012-04-19 2021-04-27 286101 ENSG00000196922 OTTHUMG00000165201 BC019922 NR_023392 HGNC:13046 +HGNC:27821 ZNF252P-AS1 ZNF252P antisense RNA 1 non-coding RNA RNA, long non-coding Approved 8q24.3 08q24.3 C8orf77 "chromosome 8 open reading frame 77|ZNF252P antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2005-10-06 2012-05-01 2012-08-15 2012-10-12 286103 ENSG00000255559 OTTHUMG00000165204 uc003zfb.5 AK092777 NR_026974 Q0IIN9 12477932 ZNF252P-AS1 HGNC:27821 +HGNC:13497 ZNF253 zinc finger protein 253 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 "BMZF-1|FLJ90391" ZNF411 zinc finger protein 411 Zinc fingers C2H2-type 28 2001-08-23 2003-12-17 2021-04-27 56242 ENSG00000256771 OTTHUMG00000182369 uc002noj.4 AF038951 NM_021047 "CCDS86729|CCDS42532" O75346 10585455 606954 HGNC:13497 "ENST00000589717.2|NM_021047.3" +HGNC:13047 ZNF254 zinc finger protein 254 protein-coding gene gene with protein product Approved 19p13 19p13 "HD-ZNF1|BMZF-5" "ZNF91L|ZNF539" zinc finger protein 539 Zinc fingers C2H2-type 28 1999-05-28 2021-04-27 9534 ENSG00000213096 OTTHUMG00000183394 uc002nru.5 AF054180 NM_004876 "CCDS74323|CCDS32983|CCDS62622|CCDS62623|CCDS74324" O75437 9653160 "MGI:107768|MGI:1920057|MGI:3040674|MGI:3040694|MGI:3040702|MGI:3040703|MGI:3040708|MGI:3044162" 604768 HGNC:13047 "ENST00000357002.5|NM_203282.4" +HGNC:13049 ZNF256 zinc finger protein 256 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 BMZF-3 Zinc fingers C2H2-type 28 1999-07-30 2021-04-27 10172 ENSG00000152454 OTTHUMG00000183449 uc002qqu.4 AF067165 NM_001375403 CCDS12966 Q9Y2P7 606956 HGNC:13049 "ENST00000282308.4|NM_005773.3" +HGNC:13498 ZNF257 zinc finger protein 257 protein-coding gene gene with protein product Approved 19p12 19p12 BMZF-4 Zinc fingers C2H2-type 28 2001-08-23 2021-04-27 113835 ENSG00000197134 OTTHUMG00000182927 uc010ecx.4 AF070651 NM_001316996 CCDS46030 Q9Y2Q1 10585455 606957 HGNC:13498 "ENST00000594947.6|NM_033468.4" +HGNC:13499 ZNF260 zinc finger protein 260 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "ozrf1|Zfp260" Zinc fingers C2H2-type 28 2006-06-30 2021-04-27 339324 ENSG00000254004 OTTHUMG00000048155 uc002oef.3 AK122854 NM_001012756 CCDS33003 Q3ZCT1 MGI:1347071 RGD:621205 613749 HGNC:13499 "ENST00000523638.6|NM_001166037.2" +HGNC:13056 ZNF263 zinc finger protein 263 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FPM315|ZKSCAN12|ZSCAN44" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-06-11 2021-04-27 10127 ENSG00000006194 OTTHUMG00000129323 uc002cuq.4 AC004232 NM_005741 CCDS10499 O14978 9256059 MGI:1921370 RGD:1307301 604191 HGNC:13056 "ENST00000219069.6|NM_005741.5" +HGNC:13057 ZNF264 zinc finger protein 264 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 KIAA0412 Zinc fingers C2H2-type 28 1999-06-11 2021-04-27 9422 ENSG00000083844 OTTHUMG00000183104 uc002qob.3 AB007872 NM_003417 CCDS33127 O43296 9455477 604668 HGNC:13057 "ENST00000263095.10|NM_003417.5" +HGNC:13059 ZNF266 zinc finger protein 266 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 HZF1 Zinc fingers C2H2-type 28 1999-07-19 2021-04-27 10781 ENSG00000174652 OTTHUMG00000179945 uc010dwq.5 X78924 NM_001271314 CCDS12213 Q14584 7865130 MGI:1924769 604751 HGNC:13059 "ENST00000592904.7|NM_001370374.1" +HGNC:13060 ZNF267 zinc finger protein 267 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 HZF2 Zinc fingers C2H2-type 28 1999-07-19 2021-04-27 10308 ENSG00000185947 OTTHUMG00000176535 uc002ecs.6 X78925 NM_003414 CCDS32440 Q14586 7865130 "MGI:1098769|MGI:3705222" 604752 HGNC:13060 "ENST00000300870.15|NM_003414.6" +HGNC:13061 ZNF268 zinc finger protein 268 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 HZF3 Zinc fingers C2H2-type 28 1999-07-19 2021-04-27 10795 ENSG00000090612 OTTHUMG00000167946 uc010tcf.3 X78926 NM_152943 "CCDS53854|CCDS59240|CCDS53851|CCDS45012|CCDS59239|CCDS53852|CCDS53853" Q14587 7865130 MGI:3651014 604753 HGNC:13061 "ENST00000536435.7|NM_003415.3" +HGNC:13065 ZNF271P zinc finger protein 271, pseudogene pseudogene pseudogene Approved 18q12.2 18q12.2 "HZF7|ZNFEB" ZNF271 zinc finger protein 271 Zinc fingers C2H2-type 28 1999-07-19 2014-10-10 2014-10-10 2021-04-27 10778 ENSG00000257267 OTTHUMG00000132563 X78930 NR_024565 "7865130|11777961" 604754 HGNC:13065 +HGNC:13067 ZNF273 zinc finger protein 273 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 HZF9 Zinc fingers C2H2-type 28 1999-07-19 2021-04-27 10793 ENSG00000198039 OTTHUMG00000149837 uc003tto.4 X78932 NM_001385643 CCDS5528 Q14593 7865130 604756 HGNC:13067 "ENST00000476120.2|NM_021148.3" +HGNC:13068 ZNF274 zinc finger protein 274 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZKSCAN19|ZSCAN51" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-07-19 2021-04-27 10782 ENSG00000171606 OTTHUMG00000183456 uc032igq.2 AB029149 NM_133502 "CCDS74473|CCDS74475|CCDS74474|CCDS74476" Q96GC6 10777669 MGI:1890378 RGD:1306339 605467 HGNC:13068 "ENST00000617501.5|NM_133502.3" +HGNC:13069 ZNF275 zinc finger protein 275 protein-coding gene gene with protein product Approved Xq28 Xq28 Zinc fingers C2H2-type 28 1999-07-22 2021-04-27 10838 ENSG00000063587 OTTHUMG00000067450 uc065bsr.1 BC041602 NM_001080485 CCDS48188 Q9NSD4 MGI:1350985 RGD:1564630 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF275 HGNC:13069 "ENST00000650114.2|NM_001367757.1" +HGNC:23330 ZNF276 zinc finger protein 276 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 "MGC45417|ZNF477|CENPZ|CENP-Z|ZADT" "centromere protein Z|zinc finger, AD-type" ZFP276 zinc finger protein 276 homolog (mouse) Zinc fingers C2H2-type 28 2003-11-07 2006-02-10 2006-02-10 2014-11-19 92822 ENSG00000158805 OTTHUMG00000138050 uc002foq.5 AK026482 NM_152287 "CCDS45554|CCDS10986" Q8N554 "10936049|20813266" MGI:1888495 RGD:1307469 608460 HGNC:23330 "ENST00000443381.7|NM_001113525.2" +HGNC:13070 ZNF277 zinc finger protein 277 protein-coding gene gene with protein product Approved 7q31.1 07q31.1 NRIF4 ZNF277P "zinc finger protein (C2H2 type) 277|zinc finger protein 277 pseudogene" Zinc fingers C2H2-type 28 1999-09-07 2007-10-23 2007-10-23 2014-11-19 11179 ENSG00000198839 OTTHUMG00000150209 uc003vge.3 AF209198 NM_021994 CCDS5755 Q9NRM2 "10860669|16213364|16395595" MGI:1890393 RGD:1583856 605465 HGNC:13070 "ENST00000361822.8|NM_021994.3" +HGNC:55828 ZNF277-AS1 ZNF277 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q31.1 07q31.1 Antisense RNAs 1987 2021-08-02 2021-08-02 2021-08-02 2021-08-02 122455331 ENSG00000226851 +HGNC:18597 ZNF280A zinc finger protein 280A protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "3'OY11.1|ZNF636" "ZNF280|SUHW1" "zinc finger protein 280|suppressor of hairy wing homolog 1 (Drosophila)" Zinc fingers C2H2-type 28 2002-04-29 2007-09-20 2007-09-20 2016-10-05 129025 ENSG00000169548 OTTHUMG00000030545 uc032qhw.1 D87009 NM_080740 CCDS13800 P59817 9074928 HGNC:18597 "ENST00000302097.3|NM_080740.5" +HGNC:23022 ZNF280B zinc finger protein 280B protein-coding gene gene with protein product Approved 22q11.22 22q11.22 "5'OY11.1|ZNF632" "ZNF279|SUHW2" "zinc finger protein 279|suppressor of hairy wing homolog 2 (Drosophila)" Zinc fingers C2H2-type 28 2003-08-19 2007-09-20 2007-09-20 2016-10-05 140883 ENSG00000275004 OTTHUMG00000151066 uc062cby.1 AK097608 NM_080764 CCDS13799 Q86YH2 9074928 MGI:1927865 RGD:1565460 HGNC:23022 "ENST00000626650.3|NM_080764.4" +HGNC:25955 ZNF280C zinc finger protein 280C protein-coding gene gene with protein product Approved Xq26.1 Xq26.1 "FLJ20095|ZNF633|ZPET" zinc finger protein proximal to RAD eighteen SUHW3 suppressor of hairy wing homolog 3 (Drosophila) Zinc fingers C2H2-type 28 2004-06-02 2007-09-20 2007-09-20 2020-04-02 55609 ENSG00000056277 OTTHUMG00000022393 uc004evm.4 AL834333 NM_017666 CCDS14622 Q8ND82 12477932 MGI:2387585 RGD:1564669 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF280C HGNC:25955 "ENST00000370978.9|NM_017666.5" +HGNC:25953 ZNF280D zinc finger protein 280D protein-coding gene gene with protein product Approved 15q21.3 15q21.3 "FLJ20086|ZNF634" SUHW4 suppressor of hairy wing homolog 4 (Drosophila) Zinc fingers C2H2-type 28 2004-06-02 2007-09-20 2007-09-20 2020-04-01 54816 ENSG00000137871 OTTHUMG00000172509 uc002adu.5 AB046804 NM_001288588 "CCDS58364|CCDS32245|CCDS42041" Q6N043 10997877 MGI:2384583 RGD:1560796 HGNC:25953 "ENST00000267807.12|NM_017661.4" +HGNC:13075 ZNF281 zinc finger protein 281 protein-coding gene gene with protein product Approved 1q32.1 01q32.1 ZBP-99 Zinc fingers C2H2-type 28 2000-01-31 2021-04-27 23528 ENSG00000162702 OTTHUMG00000035724 uc001gve.5 AF125158 NM_012482 "CCDS1402|CCDS60384" Q9Y2X9 10448078 MGI:3029290 RGD:1305139 618703 HGNC:13075 "ENST00000367353.2|NM_001281293.2" +HGNC:13076 ZNF282 zinc finger protein 282 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 HUB1 Zinc fingers C2H2-type 28 2000-03-22 2021-04-27 8427 ENSG00000170265 OTTHUMG00000158974 uc033apc.1 D30612 NM_003575 "CCDS5895|CCDS78284" Q9UDV7 9396811 MGI:2141413 RGD:1306278 603397 HGNC:13076 "ENST00000610704.5|NM_003575.4" +HGNC:13077 ZNF283 zinc finger protein 283 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 1999-12-17 2021-04-27 284349 ENSG00000167637 OTTHUMG00000182186 uc002oxr.5 AK098175 NM_181845 "CCDS46097|CCDS74387" Q8N7M2 12743021 HGNC:13077 "ENST00000618787.5|NM_181845.2" +HGNC:13078 ZNF284 zinc finger protein 284 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 DKFZp781F1775 Zinc fingers C2H2-type 28 1999-12-17 2021-04-27 342909 ENSG00000186026 OTTHUMG00000182312 uc002oyg.2 AY166789 NM_001037813 CCDS46099 Q2VY69 12743021 MGI:5591846 HGNC:13078 "ENST00000421176.4|NM_001037813.4" +HGNC:13079 ZNF285 zinc finger protein 285 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 ZNF285A zinc finger protein 285A Zinc fingers C2H2-type 28 1999-12-17 2010-04-14 2010-04-14 2021-04-27 26974 ENSG00000267508 OTTHUMG00000178848 uc002ozd.5 AK055309 NM_152354 "CCDS12638|CCDS74389" Q96NJ3 HGNC:13079 "ENST00000614994.5|NM_152354.6" +HGNC:33262 ZNF285BP zinc finger protein 285B, pseudogene pseudogene pseudogene Approved 19q13.31 19q13.31 ZNF285B "zinc finger protein 285B|zinc finger protein 285B (pseudogene)" Zinc fingers C2H2-type 28 2007-01-18 2021-08-10 2021-08-10 2021-08-10 147711 ENSG00000176761 OTTHUMG00000176423 NG_009596 PGOHUM00000295387 HGNC:33262 +HGNC:33228 ZNF285CP zinc finger protein 285C, pseudogene pseudogene pseudogene Approved 2q21.2 02q21.2 ZNF806 zinc finger protein 806 Zinc fingers C2H2-type 28 2006-12-21 2021-08-10 2021-08-10 2021-10-07 646915 ENSG00000018607 OTTHUMG00000153932 NR_172491 PGOHUM00000240959 HGNC:33228 +HGNC:51790 ZNF285DP zinc finger protein 285D, pseudogene pseudogene pseudogene Approved 20q11.21 20q11.21 Zinc fingers C2H2-type 28 2021-08-10 2021-08-10 2021-08-10 102723636 ENSG00000283443 NR_172079 PGOHUM00000297095 +HGNC:13501 ZNF286A zinc finger protein 286A protein-coding gene gene with protein product Approved 17p12 17p12 KIAA1874 ZNF286 zinc finger protein 286 Zinc fingers C2H2-type 28 2001-09-20 2007-01-05 2007-01-05 2021-04-27 57335 ENSG00000187607 OTTHUMG00000166448 uc010vwa.3 AF217226 NM_020652 "CCDS73997|CCDS11172" Q9HBT8 11347906 MGI:2384758 RGD:1561950 HGNC:13501 "ENST00000583566.6|NM_001130842.2" +HGNC:55384 ZNF286A-TBC1D26 ZNF286A-TBC1D26 readthrough (NMD candidate) other readthrough Approved 17p12 17p12 2020-12-09 2020-12-09 119086082 ENSG00000255104 NR_171000 +HGNC:33241 ZNF286B zinc finger protein 286B (pseudogene) pseudogene pseudogene Approved 17p11.2 17p11.2 ZNF590 zinc finger protein 590 "ZNF286L|ZNF286C" "zinc finger protein 286-like|zinc finger 286C pseudogene|zinc finger protein 286B" Zinc fingers C2H2-type 28 2007-01-05 2019-01-16 2021-10-07 729288 ENSG00000249459 OTTHUMG00000178136 uc010vyd.3 NR_160540 P0CG31 MGI:2384758 HGNC:33241 +HGNC:13502 ZNF287 zinc finger protein 287 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 "ZKSCAN13|ZSCAN45" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2001-09-20 2021-04-27 57336 ENSG00000141040 OTTHUMG00000058993 uc002gqi.3 AF217227 NM_001346167 CCDS11179 Q9HBT7 MGI:2176561 RGD:1308617 HGNC:13502 "ENST00000395825.4|NM_020653.4" +HGNC:18410 ZNF292 zinc finger protein 292 protein-coding gene gene with protein product Approved 6q14.3 06q14.3 "KIAA0530|ZFP292|bA393I2.3|Zn-15|Zn-16" Zinc fingers C2H2-type 28 2002-10-07 2016-10-05 23036 ENSG00000188994 OTTHUMG00000015164 uc003plm.5 AB011102 NM_015021 CCDS47457 O60281 9628581 MGI:1353423 RGD:61931 616213 471360 HGNC:18410 "ENST00000369577.8|NM_015021.3" HGNC:18410 +HGNC:23130 ZNF295-AS1 ZNF295 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 21q22.3 21q22.3 PRED87 "C21orf121|NCRNA00318" "chromosome 21 open reading frame 121|non-protein coding RNA 318|ZNF295 antisense RNA 1 (non-protein coding)" Antisense RNAs 1987 2003-10-01 2011-08-11 2012-08-15 2017-08-09 150142 ENSG00000237232 OTTHUMG00000086787 uc062ajz.1 NR_027273 Q8N0V1 28781691 ZNF295-AS1 HGNC:23130 +HGNC:15981 ZNF296 zinc finger protein 296 protein-coding gene gene with protein product Approved 19q13.32 19q13.32 ZNF342 zinc finger protein 342 Zinc fingers C2H2-type 28 2001-07-02 2008-06-24 2008-06-24 2020-04-01 162979 ENSG00000170684 OTTHUMG00000181766 uc002pao.4 BC019352 NM_145288 CCDS12653 Q8WUU4 "11063263|14633674" MGI:1926956 RGD:1595818 613226 HGNC:15981 "ENST00000303809.7|NM_145288.3" +HGNC:13088 ZNF299P zinc finger protein 299, pseudogene pseudogene pseudogene Approved 21q21.2 21q21.2 "ZNF299|ZNF299P1" "zinc finger protein 299|zinc finger protein 299 pseudogene 1" 2000-05-23 2010-08-04 2010-08-04 2021-04-27 54012 ENSG00000219368 OTTHUMG00000078250 NG_000898 PGOHUM00000239051 HGNC:13088 +HGNC:13091 ZNF300 zinc finger protein 300 protein-coding gene gene with protein product Approved 5q33.1 05q33.1 Zinc fingers C2H2-type 28 2000-05-23 2021-04-27 91975 ENSG00000145908 OTTHUMG00000130076 uc021yfy.1 AF395541 NM_052860 "CCDS4311|CCDS54939|CCDS54940" Q96RE9 14746915 "MGI:99200|MGI:1920479|MGI:2385044|MGI:3053207" RGD:9286049 612429 HGNC:13091 "ENST00000274599.10|NM_052860.4" +HGNC:27032 ZNF300P1 zinc finger protein 300 pseudogene 1 pseudogene pseudogene Approved 5q33.1 05q33.1 zinc finger protein 300 pseudogene 1 (functional) 2010-07-23 2016-01-29 2021-04-27 134466 ENSG00000197083 OTTHUMG00000154830 AK096536 NR_026867 24393131 PGOHUM00000300788 HGNC:27032 +HGNC:13848 ZNF302 zinc finger protein 302 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "ZNF327|ZNF135L|ZNF140L" Zinc fingers C2H2-type 28 2001-09-20 2021-04-27 55900 ENSG00000089335 OTTHUMG00000163329 uc002nvq.3 AF155656 NM_001012320 "CCDS46042|CCDS74333|CCDS74332|CCDS74331|CCDS74330" Q9NR11 HGNC:13848 "ENST00000505242.6|NM_001289187.2" +HGNC:13505 ZNF304 zinc finger protein 304 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2000-09-19 2021-04-27 57343 ENSG00000131845 OTTHUMG00000183245 uc061djc.1 AJ276316 NM_001290318 "CCDS77365|CCDS74462|CCDS12950" Q9HCX3 613840 HGNC:13505 "ENST00000282286.6|NM_020657.4" +HGNC:13847 ZNF311 zinc finger protein 311 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 Zinc fingers C2H2-type 28 2003-05-28 2021-04-27 282890 ENSG00000197935 OTTHUMG00000031292 uc011idy.2 AL833166 NM_001010877 CCDS34357 Q5JNZ3 HGNC:13847 "ENST00000377179.4|NM_001382360.1" +HGNC:13843 ZNF316 zinc finger protein 316 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 "MZF-3|ENST00000305834" Zinc fingers C2H2-type 28 2004-06-08 2021-04-27 100131017 ENSG00000205903 OTTHUMG00000151854 uc021zzj.3 NM_001278559 CCDS75563 A6NFI3 MGI:1860402 RGD:1311647 HGNC:13843 "ENST00000382252.6|NM_001278559.2" +HGNC:13507 ZNF317 zinc finger protein 317 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zinc fingers C2H2-type 28 2001-07-13 2021-04-27 57693 ENSG00000130803 OTTHUMG00000179932 uc002mku.4 AF275255 NM_020933 "CCDS12210|CCDS54213" Q96PQ6 "10997877|11688974" MGI:107775 RGD:1565419 613864 HGNC:13507 "ENST00000247956.11|NM_020933.5" +HGNC:31062 ZNF317P1 zinc finger protein 317 pseudogene 1 pseudogene pseudogene Approved 8q22.1 08q22.1 2005-10-06 2021-04-27 100288659 ENSG00000253781 OTTHUMG00000164237 NG_022426 PGOHUM00000249746 HGNC:31062 +HGNC:13578 ZNF318 zinc finger protein 318 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 "HRIHFB2436|ZFP318" Zinc fingers C2H2-type 28 2003-05-01 2014-11-18 24149 ENSG00000171467 OTTHUMG00000014732 uc003oux.3 AF090114 NM_014345 CCDS4895 Q5VUA4 10873617 MGI:1889348 RGD:1583221 617512 HGNC:13578 "ENST00000361428.3|NM_014345.3" +HGNC:13644 ZNF319 zinc finger protein 319 protein-coding gene gene with protein product Approved 16q21 16q21 "KIAA1388|Zfp319" Zinc fingers C2H2-type 28 2002-10-09 2021-04-27 57567 ENSG00000166188 OTTHUMG00000175512 uc002emx.2 AB037809 NM_001384365 CCDS32462 Q9P2F9 "10718198|11161788" MGI:1890618 RGD:1306198 HGNC:13644 "ENST00000299237.3|NM_020807.3" +HGNC:13842 ZNF320 zinc finger protein 320 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "ZFPL|DKFZp686G16228" Zinc fingers C2H2-type 28 2006-07-19 2021-04-27 162967 ENSG00000182986 OTTHUMG00000182797 uc002qai.4 AF086262 NM_207333 CCDS33095 A2RRD8 11536051 606427 HGNC:13842 "ENST00000682928.1|NM_001351774.2" +HGNC:13827 ZNF321P zinc finger protein 321, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 MGC35402 ZNF321 zinc finger protein 321 2001-07-27 2011-04-19 2011-04-19 2021-04-27 399669 ENSG00000213801 OTTHUMG00000167760 AK096828 NR_037805 Q8N8H1 HGNC:13827 +HGNC:23640 ZNF322 zinc finger protein 322 protein-coding gene gene with protein product Approved 6p22.2 06p22.2 "bA457M11.3|bA457M11.2" "ZNF489|ZNF388|HCG12|ZNF322A" "zinc finger protein 489|HLA complex group 12|zinc finger protein 322A" Zinc fingers C2H2-type 28 2003-11-27 2011-07-29 2011-07-29 2021-04-27 79692 ENSG00000181315 OTTHUMG00000014460 uc003nil.4 AY376736 NM_024639 CCDS4617 Q6U7Q0 15555580 MGI:2442566 RGD:1594230 610847 HGNC:23640 "ENST00000415922.7|NM_024639.5" +HGNC:14003 ZNF322P1 zinc finger protein 322 pseudogene 1 pseudogene pseudogene Approved 9q22.33 09q22.33 "ZNF322|ZNF322B" "zinc finger protein 322|zinc finger protein 322B" 2000-11-27 2011-07-29 2011-07-29 2021-10-07 387328 ENSG00000188801 OTTHUMG00000020322 NG_032063 HGNC:14003 +HGNC:14096 ZNF324 zinc finger protein 324 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZF5128|ZNF324A" Zinc fingers C2H2-type 28 2000-12-11 2021-04-27 25799 ENSG00000083812 OTTHUMG00000183540 uc061dtb.1 AF060503 NM_014347 CCDS12981 O75467 MGI:2444641 617477 HGNC:14096 "ENST00000196482.4|NM_014347.3" +HGNC:33107 ZNF324B zinc finger protein 324B protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ45850 Zinc fingers C2H2-type 28 2006-08-14 2021-04-27 388569 ENSG00000249471 OTTHUMG00000183539 uc002qsv.2 AK127750 NM_207395 CCDS33138 Q6AW86 MGI:2444641 RGD:1306631 HGNC:33107 "ENST00000336614.9|NM_207395.3" +HGNC:14104 ZNF326 zinc finger protein 326 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "Zfp326|ZAN75|FLJ20403|ZIRD" ZNF-protein interacting with nuclear mRNPs and DBC1 Zinc fingers C2H2-type 28 2001-09-26 2016-10-05 284695 ENSG00000162664 OTTHUMG00000010675 uc001dnq.3 BC013102 NM_181781 "CCDS728|CCDS727|CCDS81351" Q5BKZ1 22446626 MGI:1927246 RGD:1592829 614601 HGNC:14104 "ENST00000340281.9|NM_182976.4" +HGNC:14209 ZNF329 zinc finger protein 329 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ12586 Zinc fingers C2H2-type 28 2000-12-12 2021-04-27 79673 ENSG00000181894 OTTHUMG00000183453 uc032igm.2 AK022648 NM_024620 CCDS12972 Q86UD4 MGI:1921283 RGD:1565029 HGNC:14209 "ENST00000598312.6|NM_024620.4" +HGNC:15462 ZNF330 zinc finger protein 330 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 "NOA36|HSA6591" Zinc fingers C2H2-type 28 2003-12-02 2014-11-19 27309 ENSG00000109445 OTTHUMG00000133413 uc003iiq.5 AJ006591 NM_014487 CCDS3754 Q9Y3S2 "11528117|10593942" MGI:1353574 RGD:1307510 609550 HGNC:15462 "ENST00000262990.9|NM_014487.6" +HGNC:15489 ZNF331 zinc finger protein 331 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "RITA|ZNF463|ZNF361" rearranged in thyroid adenomas Zinc fingers C2H2-type 28 2003-10-06 2021-04-27 55422 ENSG00000130844 OTTHUMG00000163019 uc002qbx.2 AF251515 NM_018555 CCDS33102 Q9NQX6 LRG_1068|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1068.xml ZNF331 606043 HGNC:15489 "ENST00000449416.6|NM_001079906.2" +HGNC:15624 ZNF333 zinc finger protein 333 protein-coding gene gene with protein product Approved 19p13.12 19p13.12 KIAA1806 Zinc fingers C2H2-type 28 2005-01-07 2021-04-27 84449 ENSG00000160961 OTTHUMG00000183407 uc002mzn.4 NM_032433 "CCDS12316|CCDS74298" Q96JL9 12151103 611811 HGNC:15624 "ENST00000292530.11|NM_032433.4" +HGNC:15806 ZNF334 zinc finger protein 334 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 bA179N14.1 Zinc fingers C2H2-type 28 2001-09-17 2021-04-27 55713 ENSG00000198185 OTTHUMG00000032654 uc002xsc.5 AK001331 NM_001270497 "CCDS86959|CCDS74736|CCDS33480" Q9HCZ1 MGI:2388656 RGD:1592574 HGNC:15806 "ENST00000692313.1|NM_001353824.2" +HGNC:15807 ZNF335 zinc finger protein 335 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "bA465L10.2|NIF-1" NRC-interacting factor 1 Zinc fingers C2H2-type 28 2001-09-17 2014-11-18 63925 ENSG00000198026 OTTHUMG00000032637 uc002xqw.4 AK026157 NM_022095 CCDS13389 Q9H4Z2 "12215545|19131338" MGI:2682313 RGD:628751 610827 331701 HGNC:15807 "ENST00000322927.3|NM_022095.4" HGNC:15807 +HGNC:15809 ZNF337 zinc finger protein 337 protein-coding gene gene with protein product Approved 20p11.21 20p11.21 dJ694B14.1 Zinc fingers C2H2-type 28 2001-09-17 2021-04-27 26152 ENSG00000130684 OTTHUMG00000032131 uc002wvc.4 NM_001290261 CCDS13174 Q9Y3M9 HGNC:15809 "ENST00000252979.6|NM_015655.4" +HGNC:40759 ZNF337-AS1 ZNF337 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20p11.21 20p11.21 Antisense RNAs 1987 2014-01-08 2016-11-28 102724826 ENSG00000213742 OTTHUMG00000032129 NR_126465 ZNF337-AS1 HGNC:40759 +HGNC:15992 ZNF341 zinc finger protein 341 protein-coding gene gene with protein product Approved 20q11.22 20q11.22 dJ553F4.3 Zinc fingers C2H2-type 28 2001-09-17 2015-07-14 84905 ENSG00000131061 OTTHUMG00000032275 uc002wzx.5 AK027550 NM_001282933 "CCDS74719|CCDS13227" Q9BYN7 MGI:2682937 RGD:1564726 618269 HGNC:15992 "ENST00000375200.6|NM_001282933.2" HGNC:15992 +HGNC:50736 ZNF341-AS1 ZNF341 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 20q11.22 20q11.22 Antisense RNAs 1987 2014-06-13 2014-06-13 101929746 ENSG00000230753 OTTHUMG00000032278 NR_110623 ZNF341-AS1 HGNC:50736 +HGNC:16017 ZNF343 zinc finger protein 343 protein-coding gene gene with protein product Approved 20p13 20p13 MGC10715 Zinc fingers C2H2-type 28 2001-07-16 2021-04-27 79175 ENSG00000088876 OTTHUMG00000031701 uc002wge.2 AK096911 NM_024325 "CCDS74692|CCDS74693|CCDS13028|CCDS74694" Q6P1L6 HGNC:16017 "ENST00000278772.9|NM_024325.6" +HGNC:16367 ZNF345 zinc finger protein 345 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 HZF10 Zinc fingers C2H2-type 28 2001-08-07 2021-04-27 25850 ENSG00000251247 OTTHUMG00000048162 uc002oex.4 X78933 NM_001242472 CCDS12497 Q14585 7865130 HGNC:16367 "ENST00000420450.6|NM_001242472.2" +HGNC:16403 ZNF346 zinc finger protein 346 protein-coding gene gene with protein product Approved 5q35.2 05q35.2 "JAZ|Zfp346" 2004-04-28 2016-10-05 23567 ENSG00000113761 OTTHUMG00000130848 uc003mfi.4 AF083340 NM_012279 "CCDS83052|CCDS78094|CCDS4409|CCDS83054|CCDS83053|CCDS87353" Q9UL40 10488071 MGI:1349417 RGD:1308068 605308 HGNC:16403 "ENST00000358149.8|NM_012279.4" +HGNC:41423 ZNF346-IT1 ZNF346 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 5q35.2 05q35.2 ZNF346 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 106480741 ENSG00000251666 OTTHUMG00000163314 uc063kbe.1 ZNF346-IT1 +HGNC:16447 ZNF347 zinc finger protein 347 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 ZNF1111 zinc finger 1111 Zinc fingers C2H2-type 28 2001-08-24 2021-08-09 84671 ENSG00000197937 OTTHUMG00000182883 uc002qbb.3 AY029765 NM_032584 "CCDS54314|CCDS33097" Q96SE7 MGI:108187 HGNC:16447 "ENST00000334197.12|NM_032584.3" +HGNC:16656 ZNF350 zinc finger protein 350 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "ZBRK1|ZFQR" Zinc fingers C2H2-type 28 2003-05-16 2021-04-27 59348 ENSG00000256683 OTTHUMG00000182538 uc002pyd.4 AF295096 NM_021632 CCDS12845 Q9GZX5 "11090615|11161714" 605422 HGNC:16656 "ENST00000243644.9|NM_021632.4" +HGNC:48598 ZNF350-AS1 ZNF350 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 uc002pyc HCCAT3 hepatocellular carcinoma associated transcript 3 (non-protein coding) Antisense RNAs 1987 2013-05-14 2014-06-20 2014-06-20 2014-06-20 101669766 ENSG00000269235 OTTHUMG00000182537 "BC014606|DA066128" NR_103847 ZNF350-AS1 HGNC:48598 +HGNC:11628 ZNF354A zinc finger protein 354A protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "KID-1|EZNF|HKL1|KID1" TCF17 Zinc fingers C2H2-type 28 1995-07-06 2001-11-23 2021-04-27 6940 ENSG00000169131 OTTHUMG00000130895 uc003mjj.4 AF116030 NM_005649 CCDS4438 O60765 9465904 MGI:103172 RGD:2967 602444 HGNC:11628 "ENST00000335815.7|NM_005649.3" +HGNC:17197 ZNF354B zinc finger protein 354B protein-coding gene gene with protein product Approved 5q35.3 05q35.3 "KID2|FLJ25008" Zinc fingers C2H2-type 28 2001-11-21 2021-04-27 117608 ENSG00000178338 OTTHUMG00000130896 uc003mjl.4 AK057737 NM_058230 CCDS4439 Q96LW1 MGI:1351476 RGD:7562538 HGNC:17197 "ENST00000322434.8|NM_058230.3" +HGNC:16736 ZNF354C zinc finger protein 354C protein-coding gene gene with protein product Approved 5q35.3 05q35.3 KID3 Zinc fingers C2H2-type 28 2001-11-21 2021-04-27 30832 ENSG00000177932 OTTHUMG00000130888 uc003mju.4 NM_014594 CCDS4443 Q86Y25 10786630 MGI:1353621 RGD:69405 619511 HGNC:16736 "ENST00000315475.7|NM_014594.3" +HGNC:17218 ZNF355P zinc finger protein 355, pseudogene pseudogene pseudogene Approved 21q11.2 21q11.2 PRED65 ZNF834 ZNF834 2003-10-01 2010-08-03 2021-04-27 100505852 ENSG00000168122 OTTHUMG00000074165 NG_028292 Q9NSJ1 "MGI:107767|MGI:1925501|MGI:3036278|MGI:3040674" HGNC:17218 +HGNC:16838 ZNF358 zinc finger protein 358 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ10390|ZFEND" Zinc fingers C2H2-type 28 2001-12-06 2021-04-27 140467 ENSG00000198816 OTTHUMG00000182582 uc002mgn.3 AK001252 NM_018083 CCDS32890 Q9NW07 MGI:2153740 RGD:1310416 619496 HGNC:16838 "ENST00000597229.2|NM_018083.5" +HGNC:18079 ZNF362 zinc finger protein 362 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 "FLJ25476|lin-29|RN" rotund homolog (Drosophila) Zinc fingers C2H2-type 28 2002-01-29 2015-08-26 149076 ENSG00000160094 OTTHUMG00000004124 uc001bxc.1 NM_152493 CCDS377 Q5T0B9 MGI:2652839 RGD:1306498 HGNC:18079 "ENST00000539719.6|NM_152493.3" +HGNC:18194 ZNF365 zinc finger protein 365 protein-coding gene gene with protein product Approved 10q21.2 10q21.2 "KIAA0844|UAN|Su48" Talanin Zinc fingers C2H2-type 28 2003-06-13 2021-08-10 22891 ENSG00000138311 OTTHUMG00000018302 uc001jlz.5 AB020651 NM_014951 "CCDS31209|CCDS41531" "Q70YC4|Q70YC5" "12740763|16617106|29042450" MGI:2143676 RGD:1565986 607818 371324 HGNC:18194 "ENST00000395254.8|NM_014951.3" +HGNC:18316 ZNF366 zinc finger protein 366 protein-coding gene gene with protein product Approved 5q13.1 05q13.1 FLJ39796 Zinc fingers C2H2-type 28 2002-04-29 2021-04-27 167465 ENSG00000178175 OTTHUMG00000100965 uc003kce.2 AK097115 NM_152625 CCDS4015 Q8N895 MGI:2178429 RGD:2322904 610159 HGNC:18316 "ENST00000318442.6|NM_152625.3" +HGNC:18320 ZNF367 zinc finger protein 367 protein-coding gene gene with protein product Approved 9q22.32 09q22.32 FLJ33970 Zinc fingers C2H2-type 28 2002-04-29 2016-10-05 195828 ENSG00000165244 OTTHUMG00000020295 uc004awf.4 AK091289 NM_153695 CCDS6718 Q7RTV3 MGI:2442266 RGD:1307136 610160 HGNC:18320 "ENST00000375256.5|NM_153695.4" +HGNC:17409 ZNF382 zinc finger protein 382 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ14686|KS1" Zinc fingers C2H2-type 28 2003-11-27 2021-04-27 84911 ENSG00000161298 OTTHUMG00000048153 uc002oek.5 AF513816 NM_032825 "CCDS58659|CCDS33004" Q96SR6 MGI:3588204 RGD:708385 609516 HGNC:17409 "ENST00000292928.7|NM_032825.5" +HGNC:18609 ZNF383 zinc finger protein 383 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 "FLJ35863|Zfp383" Zinc fingers C2H2-type 28 2004-04-15 2021-04-27 163087 ENSG00000188283 OTTHUMG00000181890 uc002oft.2 AY438646 NM_152604 CCDS12501 Q8NA42 MGI:1920979 RGD:2318764 619499 HGNC:18609 "ENST00000684119.1|NM_001387601.1" +HGNC:11955 ZNF384 zinc finger protein 384 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 "CAGH1A|CIZ|NMP4|NP" TNRC1 trinucleotide repeat containing 1 Zinc fingers C2H2-type 28 2000-01-27 2002-05-24 2002-05-23 2015-09-08 171017 ENSG00000126746 OTTHUMG00000168716 uc010sfh.3 U80738 NM_001039920 "CCDS31732|CCDS44817|CCDS8557" Q8TF68 "9225980|11149472" MGI:2443203 RGD:708346 ZNF384 609951 HGNC:11955 "ENST00000683879.1|NM_001385745.1" +HGNC:17521 ZNF385A zinc finger protein 385A protein-coding gene gene with protein product Approved 12q13.13 12q13.13 "DKFZp586G1122|Hzf|ZFP385" ZNF385 zinc finger protein 385 2003-10-28 2007-12-06 2007-12-06 2015-05-18 25946 ENSG00000161642 OTTHUMG00000169840 uc001sfy.4 AF304052 NM_015481 "CCDS76563|CCDS44911|CCDS44910|CCDS8879" Q96PM9 MGI:1352495 RGD:1593784 609124 HGNC:17521 "ENST00000394313.7|NM_015481.3" HGNC:17521 +HGNC:26332 ZNF385B zinc finger protein 385B protein-coding gene gene with protein product Approved 2q31.2-q31.3 02q31.2-q31.3 FLJ25270 ZNF533 zinc finger protein 533 MicroRNA protein coding host genes 1691 2004-02-05 2007-12-06 2007-12-06 2018-02-13 151126 ENSG00000144331 OTTHUMG00000154559 uc002unn.5 AK057999 NM_152520 "CCDS46463|CCDS33339|CCDS46464" Q569K4 "22945289|23029477" MGI:2444734 RGD:1311181 612344 HGNC:26332 "ENST00000410066.7|NM_152520.6" +HGNC:33722 ZNF385C zinc finger protein 385C protein-coding gene gene with protein product Approved 17q21.2 17q21.2 2007-12-06 2014-11-18 201181 ENSG00000187595 OTTHUMG00000132073 uc060fgj.1 BC067901 NM_001013624 CCDS74065 Q66K41 MGI:3608347 RGD:1563442 HGNC:33722 "ENST00000692273.1|NM_001392013.1" +HGNC:26191 ZNF385D zinc finger protein 385D protein-coding gene gene with protein product Approved 3p24.3 03p24.3 FLJ22419 ZNF659 zinc finger protein 659 2005-01-24 2007-12-06 2007-12-06 2014-11-18 79750 ENSG00000151789 OTTHUMG00000130484 uc003cce.5 BC007212 NM_024697 CCDS2636 Q9H6B1 12477932 RGD:1359606 HGNC:26191 "ENST00000281523.8|NM_024697.3" +HGNC:41136 ZNF385D-AS1 ZNF385D antisense RNA 1 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 ZNF385D antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2016-11-24 100874216 ENSG00000225542 OTTHUMG00000155559 uc062hlq.1 NR_046731 ZNF385D-AS1 HGNC:41136 +HGNC:42420 ZNF385D-AS2 ZNF385D antisense RNA 2 non-coding RNA RNA, long non-coding Approved 3p24.3 03p24.3 ZNF385D antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-07-25 2012-08-15 2019-07-24 100874221 ENSG00000223351 OTTHUMG00000155585 uc062hly.1 NR_046876 31322274 ZNF385D-AS2 HGNC:42420 +HGNC:18779 ZNF391 zinc finger protein 391 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 dJ153G14.3 Zinc fingers C2H2-type 28 2003-11-27 2021-04-27 346157 ENSG00000124613 OTTHUMG00000014477 uc003njf.2 BC132797 NM_001076781 CCDS43429 Q9UJN7 HGNC:18779 "ENST00000244576.9|NM_001076781.3" +HGNC:18832 ZNF394 zinc finger protein 394 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "ZKSCAN14|FLJ12298|ZSCAN46" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2002-07-22 2021-04-27 84124 ENSG00000160908 OTTHUMG00000154660 uc003uqs.4 BC025241 NM_032164 "CCDS5666|CCDS87524" Q53GI3 15249231 MGI:1914485 RGD:628654 619300 HGNC:18832 "ENST00000337673.7|NM_032164.4" +HGNC:18737 ZNF395 zinc finger protein 395 protein-coding gene gene with protein product Approved 8p21.1 08p21.1 "PRF-1|HDBP2|PBF|DKFZp434K1210" Zinc fingers C2H2-type 28 2004-04-30 2016-10-05 55893 ENSG00000186918 OTTHUMG00000102137 uc003xgr.4 AB044750 NM_018660 CCDS6067 Q9H8N7 14625278 MGI:2682318 RGD:1307849 609494 HGNC:18737 "ENST00000344423.10|NM_018660.3" +HGNC:18824 ZNF396 zinc finger protein 396 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "ZSCAN14|FLJ31213" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2002-07-22 2021-04-27 252884 ENSG00000186496 OTTHUMG00000132562 uc060olp.1 AK055775 NM_145756 "CCDS82246|CCDS11913|CCDS82247" Q96N95 609600 HGNC:18824 "ENST00000589332.7|NM_001322286.2" +HGNC:18818 ZNF397 zinc finger protein 397 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 "ZSCAN15|MGC13250" ZNF47 zinc finger protein 47 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2002-07-22 2003-07-22 2021-04-27 84307 ENSG00000186812 OTTHUMG00000178532 uc010dmp.4 BC006172 NM_032347 "CCDS32814|CCDS45852" Q8NF99 MGI:1916506 RGD:6504280 609601 HGNC:18818 "ENST00000330501.12|NM_001135178.3" +HGNC:18373 ZNF398 zinc finger protein 398 protein-coding gene gene with protein product Approved 7q35 07q35 "ZER6|KIAA1339|P51|P71" Zinc fingers C2H2-type 28 2002-08-06 2021-04-27 57541 ENSG00000197024 OTTHUMG00000158970 uc011kul.3 AB037760 NM_020781 "CCDS5894|CCDS47739" Q8TD17 11779858 MGI:1917856 RGD:1562129 618593 HGNC:18373 "ENST00000475153.6|NM_170686.3" +HGNC:19292 ZNF402P zinc finger protein 402, pseudogene pseudogene pseudogene Approved 22q11.1 22q11.1 "zinc finger protein 402 pseudogene|zinc finger protein 402 (pseudogene)" 2002-10-03 2010-08-03 2021-04-27 266673 ENSG00000220248 OTTHUMG00000147350 NG_002664 PGOHUM00000297433 HGNC:19292 +HGNC:19417 ZNF404 zinc finger protein 404 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 Zinc fingers C2H2-type 28 2002-11-04 2021-04-27 342908 ENSG00000176222 OTTHUMG00000182206 uc002oxs.7 NM_001033719 CCDS59394 Q494X3 HGNC:19417 "ENST00000587539.2|NM_001033719.3" +HGNC:19904 ZNF407 zinc finger protein 407 protein-coding gene gene with protein product Approved 18q23 18q23 "FLJ20307|FLJ13839|KIAA1703" Zinc fingers C2H2-type 28 2002-11-29 2015-09-08 55628 ENSG00000215421 OTTHUMG00000179122 uc002llw.3 AB051490 NM_017757 "CCDS58634|CCDS45885|CCDS54191" Q9C0G0 11214970 MGI:2685179 RGD:1310645 615894 HGNC:19904 "ENST00000299687.10|NM_017757.3" HGNC:19904 +HGNC:44331 ZNF407-AS1 ZNF407 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q22.3 18q22.3 LINC00909 long intergenic non-protein coding RNA 909 Antisense RNAs 1987 2013-05-21 2020-10-21 2020-10-21 2020-10-21 400657 ENSG00000264247 OTTHUMG00000179121 NR_024484 "27980086|31132669" LINC00909 HGNC:44331 +HGNC:20041 ZNF408 zinc finger protein 408 protein-coding gene gene with protein product Approved 11p11.2 11p11.2 FLJ12827 "Zinc fingers C2H2-type|PR/SET domain family" "28|1197" 2002-12-16 2021-04-27 79797 ENSG00000175213 OTTHUMG00000166568 uc001nde.3 AF346626 NM_024741 CCDS7923 Q9H9D4 15231747 MGI:2685857 RGD:2318583 616454 357738 HGNC:20041 "ENST00000311764.3|NM_024741.3" HGNC:20041 +HGNC:20144 ZNF410 zinc finger protein 410 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 "APA1|APA-1" Zinc fingers C2H2-type 28 2003-12-10 2020-04-01 57862 ENSG00000119725 OTTHUMG00000171257 uc001xoz.3 U90919 NM_021188 "CCDS55931|CCDS9821|CCDS55929|CCDS55930" Q86VK4 12370286 MGI:1289280 RGD:1305636 619427 HGNC:20144 "ENST00000555044.6|NM_021188.3" +HGNC:20630 ZNF414 zinc finger protein 414 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "MGC15716|Zfp414" Zinc fingers C2H2-type 28 2005-04-26 2020-04-01 84330 ENSG00000133250 OTTHUMG00000182240 uc002mke.5 AK074191 NM_032370 "CCDS54211|CCDS12205" Q96IQ9 MGI:1915641 RGD:1308123 HGNC:20630 "ENST00000393927.9|NM_001146175.2" +HGNC:20636 ZNF415 zinc finger protein 415 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Zinc fingers C2H2-type 28 2004-02-20 2021-04-27 55786 ENSG00000170954 OTTHUMG00000182865 uc010yds.3 AK002053 NM_018355 "CCDS82393|CCDS54313|CCDS12860" Q09FC8 14702039 619506 HGNC:20636 "ENST00000243643.9|NM_018355.4" +HGNC:49869 ZNF415P1 zinc finger protein 415 pseudogene 1 pseudogene pseudogene Approved 18p11.22 18p11.22 2014-03-18 2014-03-18 100419893 ENSG00000266127 OTTHUMG00000178559 NG_026310 PGOHUM00000234986 HGNC:49869 +HGNC:20645 ZNF416 zinc finger protein 416 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ20557 Zinc fingers C2H2-type 28 2003-03-17 2021-04-27 55659 ENSG00000083817 OTTHUMG00000183467 uc002qpf.4 BC000130 NM_017879 CCDS12954 Q9BWM5 MGI:2444763 RGD:1311663 HGNC:20645 "ENST00000196489.4|NM_017879.3" +HGNC:20646 ZNF417 zinc finger protein 417 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC34079 Zinc fingers C2H2-type 28 2003-03-17 2021-04-27 147687 ENSG00000173480 OTTHUMG00000183488 uc002qqq.4 BC025783 NM_152475 "CCDS12965|CCDS74469" Q8TAU3 HGNC:20646 "ENST00000312026.6|NM_152475.3" +HGNC:20647 ZNF418 zinc finger protein 418 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "KIAA1956|FLJ31551" Zinc fingers C2H2-type 28 2003-03-17 2021-04-27 147686 ENSG00000196724 OTTHUMG00000183448 uc002qqs.1 "AB075836|AY695825" NM_133460 "CCDS82409|CCDS82410|CCDS42642" Q8TF45 11853319 MGI:2444763 619509 HGNC:20647 "ENST00000396147.6|NM_133460.3" +HGNC:20648 ZNF419 zinc finger protein 419 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZAPHIR ZNF419A zinc finger protein 419A "Zinc fingers C2H2-type|Minor histocompatibility antigens" "28|870" 2003-03-17 2006-12-15 2006-12-15 2021-04-27 79744 ENSG00000105136 OTTHUMG00000037073 uc002qow.3 AK026886 NM_024691 "CCDS54325|CCDS54327|CCDS54326|CCDS46211|CCDS54328|CCDS42637" Q96HQ0 21738768 "MGI:1917764|MGI:2385265" RGD:1561308 617410 HGNC:20648 "ENST00000221735.12|NM_024691.4" +HGNC:20649 ZNF420 zinc finger protein 420 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ32191 Zinc fingers C2H2-type 28 2003-03-17 2021-04-27 147923 ENSG00000197050 OTTHUMG00000048168 uc002ofl.4 AK056695 NM_144689 "CCDS12498|CCDS86757" Q8TAQ5 MGI:2444666 RGD:2323829 617216 HGNC:20649 "ENST00000337995.4|NM_144689.5" +HGNC:16762 ZNF423 zinc finger protein 423 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 "KIAA0760|OAZ|hOAZ|Ebfaz|Zfp104|NPHP14|JBTS19" "OLF-1/EBF associated zinc finger gene|Smad- and Olf-interacting zinc finger protein|early B-cell factor associated zinc finger protein" Zinc fingers C2H2-type 28 2004-04-06 2022-03-08 23090 ENSG00000102935 OTTHUMG00000173491 uc031qwd.2 AB018303 NM_015069 "CCDS81979|CCDS61930|CCDS32445" Q2M1K9 "9872452|10660046" MGI:1891217 RGD:621664 604557 313822 HGNC:16762 "ENST00000563137.7|NM_001379286.1" HGNC:16762 +HGNC:20690 ZNF425 zinc finger protein 425 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 Zinc fingers C2H2-type 28 2003-03-31 2021-04-27 155054 ENSG00000204947 OTTHUMG00000158971 uc003wfj.4 AK056498 NM_001001661 CCDS34773 Q6IV72 619507 HGNC:20690 "ENST00000378061.7|NM_001001661.3" +HGNC:20725 ZNF426 zinc finger protein 426 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC2663 Zinc fingers C2H2-type 28 2003-03-25 2021-04-27 79088 ENSG00000130818 OTTHUMG00000180132 uc002mlq.4 AK095759 NM_024106 "CCDS74279|CCDS82285|CCDS12215" Q9BUY5 MGI:1920248 RGD:1590942 HGNC:20725 "ENST00000253115.7|NM_024106.3" +HGNC:53777 ZNF426-DT ZNF426 divergent transcript non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 Divergent transcripts 1990 2017-11-17 2017-11-17 101928238 ENSG00000278611 OTTHUMG00000186586 NR_134920 HGNC:53777 +HGNC:20804 ZNF428 zinc finger protein 428 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 "MGC51082|Zfp428" C19orf37 chromosome 19 open reading frame 37 Zinc fingers C2H2-type 28 2005-11-21 2006-07-04 2006-07-04 2020-04-01 126299 ENSG00000131116 OTTHUMG00000182734 uc002oxa.4 AY257197 NM_182498 CCDS12626 Q96B54 MGI:1916463 RGD:1564862 HGNC:20804 "ENST00000300811.8|NM_182498.4" +HGNC:20817 ZNF429 zinc finger protein 429 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2003-04-25 2021-04-27 353088 ENSG00000197013 OTTHUMG00000182848 uc002nqd.2 AY269786 NM_001001415 CCDS42537 Q86V71 "MGI:99205|MGI:107767|MGI:107768|MGI:1920057|MGI:1920208|MGI:3033356|MGI:3036278|MGI:3040674|MGI:3040694|MGI:3040702|MGI:3040703|MGI:3040708|MGI:3044162|MGI:5433745" HGNC:20817 "ENST00000358491.9|NM_001001415.4" +HGNC:20808 ZNF430 zinc finger protein 430 protein-coding gene gene with protein product Approved 19p12 19p12 FLJ13659 Zinc fingers C2H2-type 28 2003-04-09 2021-04-27 80264 ENSG00000118620 OTTHUMG00000182771 uc002npj.4 AK023721 NM_025189 CCDS32978 Q9H8G1 HGNC:20808 "ENST00000261560.10|NM_025189.4" +HGNC:20809 ZNF431 zinc finger protein 431 protein-coding gene gene with protein product Approved 19p12 19p12 KIAA1969 Zinc fingers C2H2-type 28 2003-04-09 2021-04-27 170959 ENSG00000196705 OTTHUMG00000182835 uc002npp.3 AB075849 NM_133473 CCDS32979 Q8TF32 11853319 619505 HGNC:20809 "ENST00000311048.11|NM_133473.4" +HGNC:20810 ZNF432 zinc finger protein 432 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KIAA0798 Zinc fingers C2H2-type 28 2003-04-09 2021-04-27 9668 ENSG00000256087 OTTHUMG00000182552 uc061cax.1 AB018341 NM_014650 CCDS12848 O94892 9872452 HGNC:20810 "ENST00000221315.10|NM_014650.4" +HGNC:20811 ZNF433 zinc finger protein 433 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ40981 Zinc fingers C2H2-type 28 2003-04-09 2021-04-27 163059 ENSG00000197647 OTTHUMG00000156427 uc002msy.2 AK098300 NM_152602 "CCDS45983|CCDS77240" Q8N7K0 "MGI:3642406|MGI:3652002|MGI:3709324" HGNC:20811 "ENST00000550507.7|NM_001308348.2" +HGNC:53776 ZNF433-AS1 ZNF433 and ZNF878 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 Antisense RNAs 1987 2017-11-03 2017-11-03 101928464 ENSG00000219665 OTTHUMG00000156428 NR_134927 HGNC:53776 +HGNC:20814 ZNF436 zinc finger protein 436 protein-coding gene gene with protein product Approved 1p36.12 01p36.12 "KIAA1710|Zfp46" Zinc fingers C2H2-type 28 2003-04-09 2021-04-27 80818 ENSG00000125945 OTTHUMG00000003232 uc001bgu.4 AB051497 NM_030634 CCDS233 Q9C0F3 11214970 MGI:99192 RGD:1310584 611703 HGNC:20814 "ENST00000314011.9|NM_001077195.2" +HGNC:25122 ZNF436-AS1 ZNF436 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p36.12 01p36.12 FLJ90508 C1orf213 chromosome 1 open reading frame 213 Antisense RNAs 1987 2006-08-21 2014-10-01 2014-10-01 2014-11-19 148898 ENSG00000249087 OTTHUMG00000003225 BC028411 NR_033691 Q8NC38 12477932 ZNF436-AS1 HGNC:25122 +HGNC:21029 ZNF438 zinc finger protein 438 protein-coding gene gene with protein product Approved 10p11.23 10p11.23 bA330O11.1 Zinc fingers C2H2-type 28 2006-02-15 2014-11-18 220929 ENSG00000183621 OTTHUMG00000017904 uc010qdz.3 AK057323 NM_182755 "CCDS53504|CCDS7168|CCDS44369" Q7Z4V0 MGI:2444919 RGD:1307214 HGNC:21029 +HGNC:20873 ZNF439 zinc finger protein 439 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 DKFZp571K0837 Zinc fingers C2H2-type 28 2003-04-16 2021-04-27 90594 ENSG00000171291 OTTHUMG00000156527 uc002mss.4 AL833935 NM_001348718 "CCDS12268|CCDS86705" Q8NDP4 HGNC:20873 "ENST00000682736.1|NM_001348719.2" +HGNC:20874 ZNF440 zinc finger protein 440 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ37933 Zinc fingers C2H2-type 28 2003-04-16 2006-08-14 2006-08-14 2021-04-27 126070 ENSG00000171295 OTTHUMG00000156403 uc002msp.2 AK095252 NM_152357 CCDS42503 Q8IYI8 HGNC:20874 "ENST00000304060.10|NM_152357.3" +HGNC:20875 ZNF441 zinc finger protein 441 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ38637 Zinc fingers C2H2-type 28 2003-04-16 2021-04-27 126068 ENSG00000197044 OTTHUMG00000154449 uc010dyj.4 AK095956 NM_152355 CCDS12266 Q8N8Z8 HGNC:20875 "ENST00000357901.5|NM_152355.3" +HGNC:20877 ZNF442 zinc finger protein 442 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ14356 Zinc fingers C2H2-type 28 2003-04-16 2021-04-27 79973 ENSG00000198342 OTTHUMG00000156411 uc002mtr.2 AK024418 NM_030824 "CCDS12271|CCDS86707" Q9H7R0 "MGI:2682944|MGI:3646490|MGI:4867078" RGD:6502699 HGNC:20877 "ENST00000242804.9|NM_030824.3" +HGNC:20878 ZNF443 zinc finger protein 443 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 ZK1 Zinc fingers C2H2-type 28 2003-04-16 2021-04-27 10224 ENSG00000180855 OTTHUMG00000156404 uc002mtu.4 AB011414 NM_005815 CCDS32918 Q9Y2A4 9731181 RGD:628698 606697 HGNC:20878 "ENST00000301547.10|NM_005815.5" +HGNC:16052 ZNF444 zinc finger protein 444 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZSCAN17|FLJ11137|EZF2" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-05-01 2021-04-27 55311 ENSG00000167685 OTTHUMG00000181761 uc002qmm.4 AB052954 NM_018337 "CCDS12939|CCDS59426" Q8N0Y2 "11978792|19760602" MGI:1923365 RGD:1304847 607874 HGNC:16052 "ENST00000337080.8|NM_018337.4" +HGNC:35157 ZNF444P1 zinc finger protein 444 pseudogene 1 pseudogene pseudogene Approved 15q22.1 15q22.1 ZNF864P zinc finger protein 864, pseudogene 2008-09-26 2011-04-07 2011-04-07 2021-04-27 100419866 ENSG00000259738 OTTHUMG00000171986 NG_025387 PGOHUM00000293259 HGNC:35157 +HGNC:21018 ZNF445 zinc finger protein 445 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "ZKSCAN15|ZSCAN47" ZNF168 zinc finger protein 168 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-06-02 2003-10-07 2021-04-27 353274 ENSG00000185219 OTTHUMG00000133042 uc003cnf.4 AY262260 NM_181489 CCDS2713 P59923 7814019 MGI:2143340 RGD:1559144 619508 HGNC:21018 "ENST00000396077.8|NM_181489.6" +HGNC:21036 ZNF446 zinc finger protein 446 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZKSCAN20|FLJ20626|ZSCAN52" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-06-02 2021-04-27 55663 ENSG00000083838 OTTHUMG00000183541 uc002qsz.4 NM_017908 CCDS12982 Q9NWS9 MGI:2442185 RGD:7612453 HGNC:21036 "ENST00000594369.6|NM_017908.4" +HGNC:21039 ZNF449 zinc finger protein 449 protein-coding gene gene with protein product Approved Xq26.3 Xq26.3 "ZSCAN19|FLJ23614" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-06-02 2021-04-27 203523 ENSG00000173275 OTTHUMG00000022478 uc004eys.4 AY280801 NM_152695 CCDS14649 Q6P9G9 MGI:1925869 RGD:1584453 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF449 300627 HGNC:21039 "ENST00000339249.5|NM_152695.6" +HGNC:21091 ZNF451 zinc finger protein 451 protein-coding gene gene with protein product Approved 6p12.1 06p12.1 "KIAA0576|COASTER|dJ417I1.1|KIAA1702" Zinc fingers C2H2-type 28 2003-05-23 2017-01-12 26036 ENSG00000112200 OTTHUMG00000014916 uc003pdn.3 AB011148 NM_015555 "CCDS59026|CCDS4960|CCDS43477" Q9Y4E5 "9628581|26524493" MGI:2137896 RGD:1305865 615708 HGNC:21091 "ENST00000370706.9|NM_001031623.3" +HGNC:53824 ZNF451-AS1 ZNF451 regulatory antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p12.1 06p12.1 BC032020 Antisense RNAs 1987 2018-04-18 2018-04-18 101927211 ENSG00000226803 OTTHUMG00000014917 NR_110742 29532883 HGNC:53824 +HGNC:21200 ZNF454 zinc finger protein 454 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 FLJ37444 Zinc fingers C2H2-type 28 2003-07-14 2021-04-27 285676 ENSG00000178187 OTTHUMG00000130891 uc003mjo.3 AK094763 NM_001178089 CCDS4441 Q8N9F8 MGI:2679253 RGD:7529496 HGNC:21200 "ENST00000519564.2|NM_001178089.3" +HGNC:55213 ZNF454-DT ZNF454 divergent transcript non-coding RNA RNA, long non-coding Approved 5q35.3 05q35.3 TCONS_00009823 Divergent transcripts 1990 2020-08-21 2020-08-21 118568820 ENSG00000272431 +HGNC:21628 ZNF460 zinc finger protein 460 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 HZF8 ZNF272 zinc finger protein 272 Zinc fingers C2H2-type 28 2006-06-28 2021-04-27 10794 ENSG00000197714 OTTHUMG00000183222 uc002qog.3 X78931 NM_006635 "CCDS82404|CCDS12949" Q14592 15004467 604755 HGNC:21628 "ENST00000360338.4|NM_006635.4" +HGNC:53774 ZNF460-AS1 ZNF460 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Antisense RNAs 1987 2017-11-03 2017-11-03 105372476 ENSG00000267871 OTTHUMG00000183221 NR_136528 HGNC:53774 +HGNC:21629 ZNF461 zinc finger protein 461 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 "GIOT-1|MGC33911" Zinc fingers C2H2-type 28 2006-06-28 2021-04-27 92283 ENSG00000197808 OTTHUMG00000180832 uc002oem.4 BX649031 NM_153257 "CCDS74348|CCDS54257" Q8TAF7 "11579202|15004467" 608640 HGNC:21629 "ENST00000588268.6|NM_153257.5" +HGNC:21684 ZNF462 zinc finger protein 462 protein-coding gene gene with protein product Approved 9q31.2 09q31.2 "DKFZP762N2316|KIAA1803|Zfp462" Zinc fingers C2H2-type 28 2004-01-05 2016-10-05 58499 ENSG00000148143 OTTHUMG00000020438 uc004bcz.4 AB058706 NM_021224 CCDS35096 Q96JM2 MGI:107690 RGD:1562123 617371 HGNC:21684 "ENST00000277225.10|NM_021224.6" HGNC:21684 +HGNC:23154 ZNF467 zinc finger protein 467 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "EZI|Zfp467" Zinc fingers C2H2-type 28 2004-11-03 2021-04-27 168544 ENSG00000181444 OTTHUMG00000157883 uc003wgd.3 BC029296 NM_207336 "CCDS87563|CCDS5899" Q7Z7K2 12426389 MGI:1916160 RGD:1561603 614040 HGNC:23154 "ENST00000302017.4|NM_207336.3" +HGNC:33105 ZNF468 zinc finger protein 468 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 Zinc fingers C2H2-type 28 2006-08-11 2021-04-27 90333 ENSG00000204604 OTTHUMG00000182687 uc002qaf.4 AK023558 NM_001008801 "CCDS33094|CCDS62781" Q5VIY5 16144304 616841 HGNC:33105 "ENST00000595646.6|NM_001008801.2" +HGNC:23216 ZNF469 zinc finger protein 469 protein-coding gene gene with protein product Approved 16q24.2 16q24.2 "KIAA1858|Zfp469" Zinc fingers C2H2-type 28 2003-10-15 2021-10-06 84627 ENSG00000225614 OTTHUMG00000173151 uc002fku.2 AB058761 NM_001367624 Q96JG9 11347906 MGI:2684868 RGD:1583874 612078 159463 HGNC:23216 "ENST00000565624.3|NM_001367624.2" HGNC:23216 +HGNC:22220 ZNF470 zinc finger protein 470 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "CZF-1|FLJ26175" Zinc fingers C2H2-type 28 2006-05-12 2021-04-27 388566 ENSG00000197016 OTTHUMG00000182141 uc002qnl.5 AK129686 NM_001001668 CCDS33122 Q6ECI4 15302581 HGNC:22220 "ENST00000330619.13|NM_001001668.4" +HGNC:55272 ZNF470-DT ZNF470 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Divergent transcripts 1990 2020-10-01 2020-10-01 112268241 ENSG00000269696 XM_047439806 +HGNC:23226 ZNF471 zinc finger protein 471 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "KIAA1396|Z1971|Zfp78" Zinc fingers C2H2-type 28 2003-10-21 2021-04-27 57573 ENSG00000196263 OTTHUMG00000181943 uc002qnh.4 AB037817 NM_020813 CCDS12945 Q9BX82 10718198 MGI:107783 RGD:1586242 HGNC:23226 "ENST00000308031.10|NM_020813.4" +HGNC:23239 ZNF473 zinc finger protein 473 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 "KIAA1141|DKFZP434N043|HZFP100" Zinc fingers C2H2-type 28 2003-10-28 2021-04-27 25888 ENSG00000142528 OTTHUMG00000183054 uc002prm.4 AB032967 NM_001308424 "CCDS77335|CCDS33077" Q8WTR7 11782445 MGI:2442697 RGD:1305084 617908 HGNC:23239 "ENST00000270617.8|NM_015428.4" +HGNC:56021 ZNF473CR ZNF473 cis regulating lncRNA non-coding RNA RNA, long non-coding Approved 19q13.33 19q13.33 FLJ26850 Long non-coding RNAs with non-systematic symbols 1992 2022-02-28 2022-02-28 400710 ENSG00000204666 NR_027257 34844556 +HGNC:23245 ZNF474 zinc finger protein 474 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "4933409D10Rik|FLJ32921" Zinc fingers C2H2-type 28 2006-03-24 2015-08-26 133923 ENSG00000164185 OTTHUMG00000128911 uc003ksv.4 AK057483 NM_207317 CCDS4130 Q6S9Z5 MGI:1914008 RGD:1564428 HGNC:23245 "ENST00000296600.5|NM_207317.3" +HGNC:41019 ZNF474-AS1 ZNF474 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 5q23.2 05q23.2 Antisense RNAs 1987 2020-04-16 2020-04-16 107986445 ENSG00000249610 OTTHUMG00000162971 XR_007058915 +HGNC:23258 ZNF479 zinc finger protein 479 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 KR19 Zinc fingers C2H2-type 28 2003-10-31 2021-04-27 90827 ENSG00000185177 OTTHUMG00000156682 uc010kzo.4 AF277624 NM_033273 CCDS43590 Q96JC4 11410164 617444 HGNC:23258 "ENST00000319636.10|NM_001370129.2" +HGNC:23305 ZNF480 zinc finger protein 480 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 MGC32104 Zinc fingers C2H2-type 28 2004-07-15 2021-04-27 147657 ENSG00000198464 OTTHUMG00000157507 uc010ydl.3 AY512662 NM_144684 "CCDS12850|CCDS74437|CCDS77346" Q8WV37 15219843 613910 HGNC:23305 "ENST00000595962.6|NM_144684.4" +HGNC:23384 ZNF483 zinc finger protein 483 protein-coding gene gene with protein product Approved 9q31.3 09q31.3 "ZKSCAN16|KIAA1962|ZSCAN48" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-11-14 2021-04-27 158399 ENSG00000173258 OTTHUMG00000020490 uc004bff.4 AB075842 NM_133464 "CCDS35105|CCDS35106" Q8TF39 MGI:3510405 RGD:727958 HGNC:23384 "ENST00000309235.6|NM_133464.5" +HGNC:23385 ZNF484 zinc finger protein 484 protein-coding gene gene with protein product Approved 9q22.31 09q22.31 "BA526D8.4|FLJ33884" Zinc fingers C2H2-type 28 2004-08-25 2021-04-27 83744 ENSG00000127081 OTTHUMG00000020236 uc004asu.3 AK091203 NM_031486 "CCDS35066|CCDS59136|CCDS35067" Q5JVG2 HGNC:23385 "ENST00000375495.8|NM_031486.4" +HGNC:23440 ZNF485 zinc finger protein 485 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 Zinc fingers C2H2-type 28 2004-02-20 2021-04-27 220992 ENSG00000198298 OTTHUMG00000018040 uc010qfc.3 AK074679 NM_145312 CCDS7205 Q8NCK3 HGNC:23440 "ENST00000361807.8|NM_145312.4" +HGNC:20807 ZNF486 zinc finger protein 486 protein-coding gene gene with protein product Approved 19p12 19p12 MGC2396 KRBO2 KRAB domain only 2 Zinc fingers C2H2-type 28 2003-11-20 2003-12-17 2003-12-16 2021-04-27 90649 ENSG00000256229 OTTHUMG00000179731 uc002nou.4 BC008936 NM_052852 CCDS46029 Q96H40 HGNC:20807 "ENST00000335117.9|NM_052852.4" +HGNC:23488 ZNF487 zinc finger protein 487 protein-coding gene gene with protein product Approved 10q11.21 10q11.21 "KRBO1|ZNF487P" "KRAB domain only 1|zinc finger protein 487, pseudogene" Zinc fingers C2H2-type 28 2006-02-10 2013-03-06 2013-03-06 2021-04-27 642819 ENSG00000243660 OTTHUMG00000185507 uc057swm.1 NM_001355444.1 CCDS86084 B1APH4 MGI:3583896 RGD:1566386 HGNC:23488 "ENST00000437590.4|NM_001355444.3" +HGNC:23535 ZNF488 zinc finger protein 488 protein-coding gene gene with protein product Approved 10q11.22 10q11.22 FLJ32104 Zinc fingers C2H2-type 28 2003-11-21 2015-08-26 118738 ENSG00000265763 OTTHUMG00000188322 uc001jex.3 AK056666 NM_153034 CCDS73120 Q96MN9 MGI:2686052 RGD:1309835 HGNC:23535 "ENST00000585316.3|NM_153034.4" +HGNC:23705 ZNF490 zinc finger protein 490 protein-coding gene gene with protein product Approved 19p13.2-p13.13 19p13.2-p13.13 KIAA1198 Zinc fingers C2H2-type 28 2003-12-02 2021-04-27 57474 ENSG00000188033 OTTHUMG00000156398 uc002mtz.3 AB033024 NM_020714 CCDS12272 Q9ULM2 MGI:3588272 HGNC:23705 "ENST00000311437.11|NM_020714.3" +HGNC:23706 ZNF491 zinc finger protein 491 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ34791 Zinc fingers C2H2-type 28 2003-12-02 2021-04-27 126069 ENSG00000177599 OTTHUMG00000156529 uc002mso.2 AK092110 NM_152356 CCDS12267 Q8N8L2 HGNC:23706 "ENST00000323169.10|NM_152356.4" +HGNC:23707 ZNF492 zinc finger protein 492 protein-coding gene gene with protein product Approved 19p12 19p12 KIAA1473 ZNF115 zinc finger protein 115 (Y20) Zinc fingers C2H2-type 28 2003-12-02 2021-04-27 57615 ENSG00000229676 OTTHUMG00000182987 uc002nqw.3 AB040906 NM_020855 CCDS46032 Q9P255 10819331 HGNC:23707 "ENST00000456783.3|NM_020855.3" +HGNC:23708 ZNF493 zinc finger protein 493 protein-coding gene gene with protein product Approved 19p12 19p12 FLJ36504 Zinc fingers C2H2-type 28 2003-12-02 2021-04-27 284443 ENSG00000196268 OTTHUMG00000141297 uc002npw.4 "AK093823|BC006408|BC022394" NM_175910 "CCDS12411|CCDS12412|CCDS42536" Q6ZR52 "MGI:1916455|MGI:2664334|MGI:3036250|MGI:3040691|MGI:3040706|MGI:3040707" HGNC:23708 "ENST00000392288.7|NM_001076678.3" +HGNC:23713 ZNF496 zinc finger protein 496 protein-coding gene gene with protein product Approved 1q44 01q44 "ZKSCAN17|MGC15548|ZSCAN49" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2021-04-27 84838 ENSG00000162714 OTTHUMG00000041164 uc001ico.4 BC007263 NM_032752 CCDS1631 Q96IT1 30012466 MGI:2679270 RGD:1304611 613911 HGNC:23713 "ENST00000682384.1|NM_032752.3" +HGNC:55991 ZNF496-DT ZNF496 divergent transcript non-coding RNA RNA, long non-coding Approved 1q44 01q44 XLOC_000647 Divergent transcripts 1990 2021-11-15 2021-11-15 107985115 NR_168399 29386037 +HGNC:23714 ZNF497 zinc finger protein 497 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ44773 Zinc fingers C2H2-type 28 2003-12-03 2021-04-27 162968 ENSG00000174586 OTTHUMG00000183510 uc002qsh.3 AK126727 NM_198458 CCDS12977 Q6ZNH5 HGNC:23714 "ENST00000311044.8|NM_198458.3" +HGNC:55277 ZNF497-AS1 ZNF497 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Antisense RNAs 1987 2020-10-06 2020-10-06 105372483 ENSG00000269054 NR_136527 +HGNC:23716 ZNF500 zinc finger protein 500 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "ZKSCAN18|KIAA0557|ZSCAN50" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2021-04-27 26048 ENSG00000103199 OTTHUMG00000176543 uc002cxp.2 AB011129 NM_021646 "CCDS76814|CCDS32383" O60304 9628581 HGNC:23716 "ENST00000219478.11|NM_021646.4" +HGNC:23717 ZNF501 zinc finger protein 501 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 MGC21738 ZNF52 zinc finger protein 52 Zinc fingers C2H2-type 28 2003-12-03 2021-04-27 115560 ENSG00000186446 OTTHUMG00000133048 uc003cnu.3 BC013762 NM_145044 CCDS2720 Q96CX3 1505991 HGNC:23717 "ENST00000620116.5|NM_001258280.2" +HGNC:23718 ZNF502 zinc finger protein 502 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 "FLJ14855|FLJ12515" Zinc fingers C2H2-type 28 2003-12-03 2021-04-27 91392 ENSG00000196653 OTTHUMG00000133086 uc011bab.3 AK022577 NM_033210 CCDS2719 Q8TBZ5 RGD:6494479 HGNC:23718 "ENST00000436624.7|NM_001134442.3" +HGNC:23589 ZNF503 zinc finger protein 503 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 "FLJ45745|MGC2555|Nlz2" Zinc fingers C2H2-type 28 2003-12-04 2016-10-05 84858 ENSG00000165655 OTTHUMG00000018526 uc001jxg.4 AK127647 NM_032772 CCDS7350 Q96F45 19014486 MGI:1353644 RGD:1312018 613902 HGNC:23589 "ENST00000372524.5|NM_032772.6" +HGNC:27370 ZNF503-AS1 ZNF503 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 ZNF503 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-08-11 2012-08-15 2018-09-13 253264 ENSG00000226051 OTTHUMG00000018524 uc057ugr.1 NR_038223 28880276 ZNF503-AS1 HGNC:27370 +HGNC:23525 ZNF503-AS2 ZNF503 antisense RNA 2 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 "C10orf41|NCRNA00245" "chromosome 10 open reading frame 41|non-protein coding RNA 245|ZNF503 antisense RNA 2 (non-protein coding)" Antisense RNAs 1987 2004-05-27 2011-08-11 2012-08-15 2016-10-05 100131213 ENSG00000237149 OTTHUMG00000018528 uc010qlf.3 BC029963 NR_024422 A6NEH8 ZNF503-AS2 HGNC:23525 +HGNC:23780 ZNF506 zinc finger protein 506 protein-coding gene gene with protein product Approved 19p13.11 19p13.11 DKFZp761G1812 Zinc fingers C2H2-type 28 2003-12-10 2021-04-27 440515 ENSG00000081665 OTTHUMG00000182367 uc060wcw.1 AK095575 NM_001099269 "CCDS46027|CCDS42531" Q5JVG8 MGI:3040701 HGNC:23780 "ENST00000540806.7|NM_001099269.3" +HGNC:23783 ZNF507 zinc finger protein 507 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 "KIAA1084|Zfp507" Zinc fingers C2H2-type 28 2003-12-10 2020-04-01 22847 ENSG00000168813 OTTHUMG00000180220 uc002ntd.4 AB029007 NM_014910 CCDS32985 Q8TCN5 MGI:1916378 RGD:1307017 HGNC:23783 "ENST00000355898.6|NM_001136156.2" +HGNC:29161 ZNF510 zinc finger protein 510 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 KIAA0972 Zinc fingers C2H2-type 28 2003-12-19 2021-04-27 22869 ENSG00000081386 OTTHUMG00000020303 uc004awo.1 AB023189 NM_014930 CCDS35074 Q9Y2H8 10231032 RGD:6497573 619385 HGNC:29161 "ENST00000223428.9|NM_014930.3" +HGNC:28445 ZNF511 zinc finger protein 511 protein-coding gene gene with protein product Approved 10q26.3 10q26.3 "MGC30006|Zfp511" Zinc fingers C2H2-type 28 2003-12-19 2019-10-16 118472 ENSG00000198546 OTTHUMG00000019317 uc001lmj.2 AK091711 NM_145806 CCDS7677 Q8NB15 21540836 MGI:1917002 RGD:1308585 HGNC:28445 "ENST00000361518.10|NM_145806.4" +HGNC:38088 ZNF511-PRAP1 ZNF511-PRAP1 readthrough other readthrough Approved 10q26.3 10q26.3 2012-06-27 2017-10-25 104326056 ENSG00000283496 OTTHUMG00000191874 NM_001396060 21540836 +HGNC:29380 ZNF512 zinc finger protein 512 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 KIAA1805 Zinc fingers C2H2-type 28 2003-12-19 2016-10-05 84450 ENSG00000243943 OTTHUMG00000097786 uc002rla.5 AL833748 NM_032434 "CCDS59428|CCDS1758|CCDS59429" Q96ME7 11347906 MGI:1917345 RGD:1561526 HGNC:29380 "ENST00000355467.6|NM_032434.4" +HGNC:29212 ZNF512B zinc finger protein 512B protein-coding gene gene with protein product Approved 20q13.33 20q13.33 "GM632|MGC149845|MGC149846" Zinc fingers C2H2-type 28 2007-03-20 2014-11-18 57473 ENSG00000196700 OTTHUMG00000033008 uc061yqm.1 AB033022 NM_020713 CCDS13548 Q96KM6 10574462 MGI:2685478 RGD:1305284 617886 HGNC:29212 "ENST00000369888.6|NM_020713.3" +HGNC:26498 ZNF513 zinc finger protein 513 protein-coding gene gene with protein product Approved 2p23.3 02p23.3 "FLJ32203|RP58|Zfp513" Zinc fingers C2H2-type 28 2003-12-19 2021-04-27 130557 ENSG00000163795 OTTHUMG00000097783 uc002rkk.4 AL833946 NM_144631 "CCDS56114|CCDS1751" Q8N8E2 20797688 MGI:2141255 RGD:1310456 613598 239967 HGNC:26498 "ENST00000323703.11|NM_144631.6" HGNC:26498 +HGNC:25894 ZNF514 zinc finger protein 514 protein-coding gene gene with protein product Approved 2q11.1 02q11.1 FLJ14457 Zinc fingers C2H2-type 28 2003-12-19 2021-04-27 84874 ENSG00000144026 OTTHUMG00000130391 uc061lsz.1 AL832263 NM_032788 CCDS2011 Q96K75 HGNC:25894 "ENST00000295208.7|NM_032788.3" +HGNC:28990 ZNF516 zinc finger protein 516 protein-coding gene gene with protein product Approved 18q23 18q23 "HsT287|KIAA0222" Zinc fingers C2H2-type 28 2004-01-08 2015-11-03 2015-11-03 2021-04-27 9658 ENSG00000101493 OTTHUMG00000165995 uc032hhr.2 D86975 NM_014643 CCDS74234 Q92618 9039502 MGI:2443957 RGD:1306817 615114 HGNC:28990 "ENST00000443185.7|NM_014643.4" +HGNC:55324 ZNF516-AS1 ZNF516 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 18q23 18q23 Antisense RNAs 1987 2020-10-21 2020-10-21 101927989 ENSG00000265778 NR_136504 +HGNC:51248 ZNF516-DT ZNF516 divergent transcript non-coding RNA RNA, long non-coding Approved 18q23 18q23 C18orf65 chromosome 18 open reading frame 65 Divergent transcripts 1990 2014-09-17 2019-10-04 2019-10-04 2019-10-04 400658 ENSG00000275763 OTTHUMG00000165996 NR_164145 Q6ZTR6 RGD:9411526 HGNC:51248 +HGNC:27984 ZNF517 zinc finger protein 517 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 Zinc fingers C2H2-type 28 2004-01-06 2021-04-27 340385 ENSG00000197363 OTTHUMG00000165199 uc003zed.1 AK096527 NM_213605 CCDS6434 Q6ZMY9 HGNC:27984 "ENST00000359971.4|NM_213605.3" +HGNC:29009 ZNF518A zinc finger protein 518A protein-coding gene gene with protein product Approved 10q24.1 10q24.1 KIAA0335 ZNF518 zinc finger protein 518 Zinc fingers C2H2-type 28 2004-05-27 2007-12-07 2007-12-07 2016-10-05 9849 ENSG00000177853 OTTHUMG00000018828 uc031wpn.2 AB002333 NM_014803 CCDS73170 Q6AHZ1 9205841 MGI:1919922 RGD:1305314 617733 HGNC:29009 "ENST00000316045.10|NM_001330736.2" +HGNC:29365 ZNF518B zinc finger protein 518B protein-coding gene gene with protein product Approved 4p16.1 04p16.1 KIAA1729 Zinc fingers C2H2-type 28 2007-12-07 2016-10-25 85460 ENSG00000178163 OTTHUMG00000160060 uc003gmn.4 AB051516 NM_053042 CCDS33960 Q9C0D4 11214970 MGI:2140750 RGD:1564150 617734 HGNC:29365 "ENST00000326756.4|NM_053042.3" HGNC:29365 +HGNC:30574 ZNF519 zinc finger protein 519 protein-coding gene gene with protein product Approved 18p11.21 18p11.21 "HsT2362|FLJ36809" similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1) Zinc fingers C2H2-type 28 2004-01-15 2021-04-27 162655 ENSG00000175322 OTTHUMG00000182055 uc002kst.3 BC024227 NM_145287 CCDS32797 Q8TB69 12477932 MGI:1098769 RGD:2985 HGNC:30574 "ENST00000590202.3|NM_145287.4" +HGNC:50785 ZNF519P1 zinc finger protein 519 pseudogene 1 pseudogene pseudogene Approved 10q22.3 10q22.3 2014-06-18 2016-10-05 100419873 ENSG00000232950 OTTHUMG00000018611 NG_025526 PGOHUM00000238860 HGNC:50785 +HGNC:50786 ZNF519P2 zinc finger protein 519 pseudogene 2 pseudogene pseudogene Approved 15q11.2 15q11.2 2014-06-18 2014-06-18 100287908 ENSG00000258799 OTTHUMG00000171707 NG_022098 PGOHUM00000246629 HGNC:50786 +HGNC:50787 ZNF519P3 zinc finger protein 519 pseudogene 3 pseudogene pseudogene Approved 15q11.2 15q11.2 2014-06-18 2014-06-18 100288042 ENSG00000258585 OTTHUMG00000171729 NG_022099 PGOHUM00000246641 HGNC:50787 +HGNC:50788 ZNF519P4 zinc finger protein 519 pseudogene 4 pseudogene pseudogene Approved 4p16.3 04p16.3 2014-06-18 2014-06-18 106481981 ENSG00000249025 OTTHUMG00000159864 NG_045048 PGOHUM00000263501 HGNC:50788 +HGNC:24605 ZNF521 zinc finger protein 521 protein-coding gene gene with protein product Approved 18q11.2 18q11.2 "EHZF|Evi3" early hematopoietic zinc finger Zinc fingers C2H2-type 28 2004-04-05 2021-04-27 25925 ENSG00000198795 OTTHUMG00000179511 uc002kvk.3 AK027354 NM_015461 "CCDS77167|CCDS32806" Q96K83 "11984006|14630787" MGI:95459 RGD:1307345 ZNF521 610974 HGNC:24605 "ENST00000361524.8|NM_015461.3" +HGNC:28322 ZNF524 zinc finger protein 524 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC23143 Zinc fingers C2H2-type 28 2004-02-02 2021-04-27 147807 ENSG00000171443 OTTHUMG00000180859 uc002qlk.2 BC014666 NM_153219 CCDS12929 Q96C55 12477932 MGI:1916740 RGD:1565485 HGNC:28322 "ENST00000301073.4|NM_153219.4" +HGNC:29423 ZNF525 zinc finger protein 525 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 KIAA1979 Zinc fingers C2H2-type 28 2004-02-02 2021-04-27 170958 ENSG00000203326 OTTHUMG00000158277 uc061cjl.1 AB075859 NM_001348156 "CCDS86802|CCDS86803" Q8N782 11853319 HGNC:29423 "ENST00000474037.6|NM_001348156.2" +HGNC:29415 ZNF526 zinc finger protein 526 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 "KIAA1951|MGC4267" Zinc fingers C2H2-type 28 2004-02-02 2021-04-27 116115 ENSG00000167625 OTTHUMG00000182785 uc002osz.2 AB075831 NM_133444 CCDS12598 Q8TF50 11853319 MGI:2445181 RGD:1588959 614387 471362 HGNC:29415 "ENST00000301215.8|NM_133444.3" +HGNC:29385 ZNF527 zinc finger protein 527 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 KIAA1829 Zinc fingers C2H2-type 28 2004-02-02 2021-04-27 84503 ENSG00000189164 OTTHUMG00000048173 uc010efk.2 "AB058732|AK091585" NM_032453 CCDS42559 Q8NB42 11347906 HGNC:29385 "ENST00000436120.7|NM_032453.2" +HGNC:29384 ZNF528 zinc finger protein 528 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 KIAA1827 Zinc fingers C2H2-type 28 2004-02-02 2021-04-27 84436 ENSG00000167555 OTTHUMG00000156494 uc061cdk.1 AB058730 NM_032423 CCDS33091 Q3MIS6 11347906 615580 HGNC:29384 "ENST00000360465.8|NM_032423.3" +HGNC:51305 ZNF528-AS1 ZNF528 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2014-09-26 2014-09-26 102724105 ENSG00000269834 OTTHUMG00000182646 NR_125345 ZNF528-AS1 HGNC:51305 +HGNC:29328 ZNF529 zinc finger protein 529 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 KIAA1615 Zinc fingers C2H2-type 28 2004-02-02 2021-04-27 57711 ENSG00000186020 OTTHUMG00000180714 uc002oeh.5 AK025110 NM_020951 "CCDS54256|CCDS82335" Q6P280 10997877 HGNC:29328 "ENST00000591340.6|NM_020951.5" +HGNC:51275 ZNF529-AS1 ZNF529 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Antisense RNAs 1987 2014-08-22 2014-08-22 101927599 ENSG00000233527 OTTHUMG00000048152 NR_110705 ZNF529-AS1 HGNC:51275 +HGNC:29297 ZNF530 zinc finger protein 530 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 KIAA1508 Zinc fingers C2H2-type 28 2004-02-02 2021-04-27 348327 ENSG00000183647 OTTHUMG00000183469 uc002qpk.3 AK096831 NM_020880 CCDS12955 Q6P9A1 10819331 HGNC:29297 "ENST00000597700.6|NM_001321981.2" +HGNC:30940 ZNF532 zinc finger protein 532 protein-coding gene gene with protein product Approved 18q21.32 18q21.32 FLJ10697 Zinc fingers C2H2-type 28 2004-02-03 2015-08-27 55205 ENSG00000074657 OTTHUMG00000132759 uc002lho.4 AB046849 NM_018181 CCDS11969 Q9HCE3 10997877 MGI:3036282 RGD:1311719 619066 HGNC:30940 "ENST00000591808.6|NM_001375912.1" +HGNC:26337 ZNF534 zinc finger protein 534 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ25344 KRBO3 KRAB domain only 3 Zinc fingers C2H2-type 28 2004-02-02 2004-02-11 2004-02-06 2021-04-27 147658 ENSG00000198633 OTTHUMG00000156493 uc002pzk.4 AK058073 NM_182512 "CCDS46165|CCDS77348|CCDS46166|CCDS77347" Q76KX8 HGNC:26337 "ENST00000433050.6|NM_001143938.3" +HGNC:29025 ZNF536 zinc finger protein 536 protein-coding gene gene with protein product Approved 19q12 19q12 KIAA0390 Zinc fingers C2H2-type 28 2004-02-09 2019-08-21 9745 ENSG00000198597 OTTHUMG00000182112 uc002nsu.2 NM_014717 CCDS32984 O15090 9205841 MGI:1926102 RGD:1563363 618037 HGNC:29025 "ENST00000355537.4|NM_014717.3" +HGNC:25331 ZNF540 zinc finger protein 540 protein-coding gene gene with protein product Approved 19q13.13 19q13.13 DKFZp547B0714 Zinc fingers C2H2-type 28 2004-02-12 2021-04-27 163255 ENSG00000171817 OTTHUMG00000182053 uc002ogq.5 AL832315 NM_152606 "CCDS54258|CCDS12506" Q8NDQ6 613903 HGNC:25331 "ENST00000316433.9|NM_001172225.3" +HGNC:25294 ZNF541 zinc finger protein 541 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 DKFZp434I1930 "Zinc fingers C2H2-type|Myb/SANT domain containing" "28|532" 2004-02-12 2021-08-26 84215 ENSG00000118156 OTTHUMG00000141262 uc002phg.5 AL136846 NM_032255 CCDS46133 Q9H0D2 "11230166|34075040" MGI:3647699 RGD:1310756 HGNC:25294 "ENST00000391901.8|NM_001277075.3" HGNC:25294 +HGNC:25393 ZNF542P zinc finger protein 542, pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 DKFZp686B2197 ZNF542 zinc finger protein 542 Zinc fingers C2H2-type 28 2004-02-12 2014-03-20 2014-03-20 2021-04-27 147947 ENSG00000240225 OTTHUMG00000140382 AL833621 NR_003127 Q5EBM4 HGNC:25393 +HGNC:25281 ZNF543 zinc finger protein 543 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 DKFZp434H055 Zinc fingers C2H2-type 28 2004-02-12 2021-04-27 125919 ENSG00000178229 OTTHUMG00000183243 uc002qoi.3 AL834534 NM_213598 CCDS33130 Q08ER8 616847 HGNC:25281 "ENST00000321545.5|NM_213598.4" +HGNC:16759 ZNF544 zinc finger protein 544 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 AF020591 zinc finger protein AF020591 Zinc fingers C2H2-type 28 2004-02-12 2021-04-27 27300 ENSG00000198131 OTTHUMG00000183458 uc061dqu.1 AF020591 NM_014480 "CCDS82413|CCDS82412|CCDS12973|CCDS82411" Q6NX49 471364 HGNC:16759 "ENST00000687789.1|NM_014480.4" +HGNC:28671 ZNF546 zinc finger protein 546 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 MGC43537 ZNF49 Zinc fingers C2H2-type 28 2004-02-13 2021-04-27 339327 ENSG00000187187 OTTHUMG00000182578 uc002oms.3 BC045649 NM_178544 "CCDS77297|CCDS12548" Q86UE3 12477932 RGD:2324824 HGNC:28671 "ENST00000347077.9|NM_178544.5" +HGNC:26432 ZNF547 zinc finger protein 547 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ31100 Zinc fingers C2H2-type 28 2004-02-13 2021-04-27 284306 ENSG00000152433 OTTHUMG00000183246 uc002qol.4 AK055662 NM_173631 CCDS33131 Q8IVP9 HGNC:26432 "ENST00000282282.4|NM_173631.4" +HGNC:26561 ZNF548 zinc finger protein 548 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ32932 Zinc fingers C2H2-type 28 2004-02-13 2021-04-27 147694 ENSG00000188785 OTTHUMG00000183281 uc002qom.5 AK057494 NM_152909 "CCDS54324|CCDS46209" Q8NEK5 12477932 HGNC:26561 "ENST00000336128.12|NM_001172773.2" +HGNC:26632 ZNF549 zinc finger protein 549 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ34917 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 256051 ENSG00000121406 OTTHUMG00000183465 uc002qpa.3 AK092236 NM_153263 "CCDS56106|CCDS12952" Q6P9A3 12477932 RGD:7559893 HGNC:26632 "ENST00000376233.8|NM_001199295.2" +HGNC:28643 ZNF550 zinc finger protein 550 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC41917 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 162972 ENSG00000251369 OTTHUMG00000133709 uc002qpd.4 AL833214 NM_153231 CCDS35500 Q7Z398 12477932 HGNC:28643 +HGNC:25108 ZNF551 zinc finger protein 551 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 DKFZp686H1038 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 90233 ENSG00000204519 OTTHUMG00000183470 uc002qpw.6 BX538151 NM_138347 CCDS12959 Q7Z340 MGI:3588205 RGD:1592780 HGNC:25108 "ENST00000282296.10|NM_138347.5" +HGNC:26135 ZNF552 zinc finger protein 552 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ21603 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 79818 ENSG00000178935 OTTHUMG00000183478 uc002qqg.3 AK097041 NM_024762 CCDS12963 Q9H707 HGNC:26135 "ENST00000391701.1|NM_024762.3" +HGNC:26629 ZNF554 zinc finger protein 554 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ34817 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 115196 ENSG00000172006 OTTHUMG00000180493 uc002lwm.3 AK027860 NM_152303 CCDS42462 Q86TJ5 12477932 HGNC:26629 "ENST00000317243.10|NM_001102651.2" +HGNC:28382 ZNF555 zinc finger protein 555 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 MGC26707 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 148254 ENSG00000186300 OTTHUMG00000180500 uc002lwo.4 AL832140 NM_152791 "CCDS12096|CCDS59329" Q8NEP9 26184877 HGNC:28382 "ENST00000334241.9|NM_152791.5" +HGNC:25669 ZNF556 zinc finger protein 556 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 FLJ11637 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 80032 ENSG00000172000 OTTHUMG00000180501 uc002lwp.2 BC009374 NM_024967 "CCDS74254|CCDS12097" Q9HAH1 12477932 HGNC:25669 "ENST00000307635.3|NM_024967.3" +HGNC:28632 ZNF557 zinc finger protein 557 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC4054 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 79230 ENSG00000130544 OTTHUMG00000181977 uc002mga.4 AK095524 NM_024341 "CCDS42485|CCDS45945" Q8N988 12477932 MGI:1921681 HGNC:28632 "ENST00000252840.11|NM_024341.3" +HGNC:26422 ZNF558 zinc finger protein 558 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ30932 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 148156 ENSG00000167785 OTTHUMG00000182196 uc010dwg.2 AK055494 NM_144693 CCDS12208 Q96NG5 MGI:1921681 RGD:9264599 HGNC:26422 "ENST00000601372.6|NM_144693.3" +HGNC:28197 ZNF559 zinc finger protein 559 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC13105 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 84527 ENSG00000188321 OTTHUMG00000179942 uc060sze.2 AL389937 NM_032497 "CCDS59349|CCDS62531|CCDS62532|CCDS12211" Q9BR84 12477932 RGD:1583951 HGNC:28197 "ENST00000603380.6|NM_032497.3" +HGNC:42964 ZNF559-ZNF177 ZNF559-ZNF177 readthrough other readthrough Approved 19p13.2 19p13.2 2011-09-27 2013-10-15 100529215 ENSG00000270011 OTTHUMG00000183958 uc002mli.4 NM_001172650 CCDS56081 HGNC:42964 +HGNC:26484 ZNF560 zinc finger protein 560 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ31986 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 147741 ENSG00000198028 OTTHUMG00000180130 uc002mlp.2 AK056548 NM_152476 CCDS12214 Q96MR9 HGNC:26484 "ENST00000301480.5|NM_152476.3" +HGNC:28684 ZNF561 zinc finger protein 561 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC45408 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 93134 ENSG00000171469 OTTHUMG00000157054 uc002mlu.4 AK074787 NM_152289 "CCDS12216|CCDS82286" Q8N587 12477932 MGI:1924769 HGNC:28684 "ENST00000302851.8|NM_152289.3" +HGNC:27613 ZNF561-AS1 ZNF561 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 19p13.2 19p13.2 C19orf82 chromosome 19 open reading frame 82 Antisense RNAs 1987 2013-06-06 2014-07-17 2014-07-17 2014-11-19 284385 ENSG00000267106 OTTHUMG00000180135 NR_122038 K7EIQ3 ZNF561-AS1 HGNC:27613 +HGNC:25950 ZNF562 zinc finger protein 562 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ20079 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 54811 ENSG00000171466 OTTHUMG00000180205 uc002mly.4 AK000086 NM_017656 "CCDS12217|CCDS45956|CCDS74280" Q6V9R5 MGI:1924769 HGNC:25950 "ENST00000453372.7|NM_001130031.2" +HGNC:30498 ZNF563 zinc finger protein 563 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ34797 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 147837 ENSG00000188868 OTTHUMG00000156413 uc002mtp.4 BC022523 NM_145276 "CCDS12270|CCDS86706" Q8TA94 "MGI:2682944|MGI:3646490|MGI:4867078" RGD:1308729 HGNC:30498 "ENST00000293725.10|NM_145276.3" +HGNC:31106 ZNF564 zinc finger protein 564 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 MGC26914 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 163050 ENSG00000249709 OTTHUMG00000156418 uc002mty.4 BC028367 NM_144976 CCDS42505 Q8TBZ8 HGNC:31106 "ENST00000339282.12|NM_144976.4" +HGNC:26726 ZNF565 zinc finger protein 565 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ36991 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 147929 ENSG00000196357 OTTHUMG00000180508 uc002odo.5 AK094310 NM_152477 CCDS12491 Q8N9K5 614275 HGNC:26726 "ENST00000304116.10|NM_152477.5" HGNC:26726 +HGNC:25919 ZNF566 zinc finger protein 566 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ14779|MGC12515" Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 84924 ENSG00000186017 OTTHUMG00000048148 uc002oea.4 AK074497 NM_032838 "CCDS74346|CCDS12494|CCDS46061" Q969W8 12477932 MGI:1919806 RGD:1563239 HGNC:25919 "ENST00000452939.7|NM_001145344.1" +HGNC:55301 ZNF566-AS1 ZNF566 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Antisense RNAs 1987 2020-10-15 2020-10-15 728752 ENSG00000267309 NR_036504 +HGNC:28696 ZNF567 zinc finger protein 567 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 MGC45586 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 163081 ENSG00000189042 OTTHUMG00000180898 uc010xtl.3 AK093034 NM_152603 "CCDS12495|CCDS74349|CCDS86756" Q8N184 12477932 RGD:2321626 HGNC:28696 "ENST00000682579.1|NM_001322917.1" +HGNC:51281 ZNF567-DT ZNF567 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 LINC01534 long intergenic non-protein coding RNA 1534 Divergent transcripts 1990 2014-08-28 2021-08-02 2021-08-02 2021-08-02 101927621 ENSG00000225975 OTTHUMG00000048158 NR_110708 LINC01534 HGNC:51281 +HGNC:25392 ZNF568 zinc finger protein 568 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 DKFZp686B0797 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 374900 ENSG00000198453 OTTHUMG00000048160 uc002ofc.4 BX640681 NM_198539 "CCDS56092|CCDS42558|CCDS74351|CCDS56093" Q3ZCX4 MGI:2142347 RGD:1559509 617566 HGNC:25392 "ENST00000333987.12|NM_198539.4" +HGNC:24737 ZNF569 zinc finger protein 569 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ32053|ZAP1|Zfp74" Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 148266 ENSG00000196437 OTTHUMG00000048172 uc002ogi.4 AL833408 NM_152484 "CCDS12503|CCDS82341" Q5MCW4 16793018 MGI:10778 RGD:1563223 613904 HGNC:24737 "ENST00000316950.11|NM_152484.3" +HGNC:26416 ZNF570 zinc finger protein 570 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ30791 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 148268 ENSG00000171827 OTTHUMG00000048176 uc002ogk.2 AK055353 NM_144694 "CCDS12504|CCDS74355" Q96NI8 HGNC:26416 "ENST00000330173.6|NM_144694.5" +HGNC:25000 ZNF571 zinc finger protein 571 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 HSPC059 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 51276 ENSG00000180479 OTTHUMG00000182016 uc002ogt.4 AF161544 NM_016536 CCDS12505 Q7Z3V5 11042152 HGNC:25000 "ENST00000451802.7|NM_016536.5" +HGNC:44324 ZNF571-AS1 ZNF571 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Antisense RNAs 1987 2013-05-21 2013-05-21 100507433 ENSG00000267470 OTTHUMG00000182052 "BC042488|BX647800" NR_038247 ZNF571-AS1 HGNC:44324 +HGNC:26758 ZNF572 zinc finger protein 572 protein-coding gene gene with protein product Approved 8q24.13 08q24.13 FLJ38002 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 137209 ENSG00000180938 OTTHUMG00000164988 uc003yrr.4 BX537876 NM_152412 CCDS6354 Q7Z3I7 HGNC:26758 "ENST00000319286.6|NM_152412.3" +HGNC:26420 ZNF573 zinc finger protein 573 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ30921 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 126231 ENSG00000189144 OTTHUMG00000048183 uc002ohe.3 AK074539 NM_152360 "CCDS12508|CCDS59381|CCDS54260" Q86YE8 12477932 HGNC:26420 "ENST00000536220.7|NM_001172690.2" +HGNC:26166 ZNF574 zinc finger protein 574 protein-coding gene gene with protein product Approved 19q13.2 19q13.2 FLJ22059 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 64763 ENSG00000105732 OTTHUMG00000182751 uc060zev.1 AK074788 NM_022752 "CCDS82356|CCDS12596" Q6ZN55 12477932 MGI:2442951 RGD:1311420 HGNC:26166 "ENST00000359044.5|NM_022752.6" +HGNC:27606 ZNF575 zinc finger protein 575 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 FLJ32567 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 284346 ENSG00000176472 OTTHUMG00000182698 uc002ows.4 BC043611 NM_174945 CCDS12623 Q86XF7 MGI:2141921 RGD:1305025 HGNC:27606 "ENST00000314228.10|NM_174945.3" +HGNC:28357 ZNF576 zinc finger protein 576 protein-coding gene gene with protein product Approved 19q13.31 19q13.31 MGC2508 Zinc fingers C2H2-type 28 2004-02-15 2014-11-19 79177 ENSG00000124444 OTTHUMG00000165479 uc002owz.3 AK026353 NM_024327 CCDS12625 Q9H609 12477932 471366 HGNC:28357 "ENST00000336564.5|NM_001145347.2" +HGNC:28673 ZNF577 zinc finger protein 577 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 MGC4400 Zinc fingers C2H2-type 28 2004-02-15 2021-06-30 84765 ENSG00000161551 OTTHUMG00000157045 uc010yde.4 AL832871 NM_032679 "CCDS46160|CCDS12842" Q9BSK1 32390948 RGD:9236890 HGNC:28673 "ENST00000638348.2|NM_001370449.1" +HGNC:26449 ZNF578 zinc finger protein 578 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ31384 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 147660 ENSG00000258405 OTTHUMG00000156468 uc002pzp.5 AK095562 NM_152472 CCDS54310 Q96N58 HGNC:26449 "ENST00000421239.7|NM_001099694.2" +HGNC:26646 ZNF579 zinc finger protein 579 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 FLJ35453 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 163033 ENSG00000218891 OTTHUMG00000180857 uc002qlh.4 AK092772 NM_152600 CCDS12927 Q8NAF0 MGI:1915740 RGD:1308475 HGNC:26646 "ENST00000325421.7|NM_152600.3" +HGNC:29473 ZNF580 zinc finger protein 580 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Zinc fingers C2H2-type 28 2004-02-15 2015-09-10 51157 ENSG00000213015 OTTHUMG00000180868 uc002qlo.4 AF184939 NM_016202 CCDS12931 Q9UK33 21599657 MGI:1916242 RGD:1306892 617888 HGNC:29473 "ENST00000325333.10|NM_207115.2" +HGNC:25017 ZNF581 zinc finger protein 581 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "HSPC189|FLJ22550" Zinc fingers C2H2-type 28 2004-02-15 2014-11-19 51545 ENSG00000171425 OTTHUMG00000180869 uc002qln.4 AK026203 NM_016535 CCDS12932 Q9P0T4 11042152 HGNC:25017 "ENST00000270451.6|NM_016535.4" +HGNC:26421 ZNF582 zinc finger protein 582 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ30927 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 147948 ENSG00000018869 OTTHUMG00000181939 uc061dfm.1 AK055489 NM_144690 CCDS33121 Q96NG8 22815913 RGD:7617005 615600 HGNC:26421 +HGNC:25213 ZNF582-DT ZNF582 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 ZNF582-AS1 "ZNF582 antisense RNA 1 (non-protein coding)|ZNF582 antisense RNA 1|ZNF582 antisense RNA 1 (head to head)" Divergent transcripts 1990 2012-08-10 2020-10-15 2020-10-15 2020-10-15 386758 ENSG00000267454 OTTHUMG00000182151 uc002qnb.3 "AW160702|BC036928" NR_037159 12477932 ZNF582-AS1 HGNC:25213 +HGNC:26427 ZNF583 zinc finger protein 583 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ31030 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 147949 ENSG00000198440 OTTHUMG00000168874 uc002qnc.3 AK055592 NM_152478 CCDS12943 Q96ND8 MGI:2682297 RGD:1562044 HGNC:26427 "ENST00000333201.13|NM_152478.3" +HGNC:27318 ZNF584 zinc finger protein 584 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ39899 Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 201514 ENSG00000171574 OTTHUMG00000183533 uc002qsp.4 AK097218 NM_173548 "CCDS86814|CCDS82414|CCDS12979" Q8IVC4 HGNC:27318 "ENST00000306910.9|NM_173548.3" +HGNC:56027 ZNF584-DT ZNF584 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 CTD-2619J13.14 Divergent transcripts 1990 2021-12-03 2021-12-03 123706526 ENSG00000232098 +HGNC:26305 ZNF585A zinc finger protein 585A protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ23765|Zfp27" Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 199704 ENSG00000196967 OTTHUMG00000181857 uc002ofo.3 AK074345 NM_152655 "CCDS12499|CCDS74353" Q6P3V2 12477932 MGI:99174 RGD:7530922 HGNC:26305 "ENST00000292841.10|NM_001288800.2" +HGNC:30948 ZNF585B zinc finger protein 585B protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "FLJ14928|SZFP41|Zfp27" Zinc fingers C2H2-type 28 2004-02-15 2021-04-27 92285 ENSG00000245680 OTTHUMG00000048165 uc002ofq.3 AK027834 NM_152279 CCDS12500 Q52M93 12477932 MGI:99174 RGD:1624201 HGNC:30948 "ENST00000532828.7|NM_152279.4" +HGNC:25949 ZNF586 zinc finger protein 586 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ20070 Zinc fingers C2H2-type 28 2004-02-19 2021-04-27 54807 ENSG00000083828 OTTHUMG00000183477 uc002qqd.4 AK095993 NM_017652 "CCDS56107|CCDS42640|CCDS56108" Q9NXT0 12477932 HGNC:25949 "ENST00000396154.7|NM_017652.4" +HGNC:30955 ZNF587 zinc finger protein 587 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZF6|FLJ14710|UBF-fl|FLJ20813" Zinc fingers C2H2-type 28 2004-02-19 2021-04-27 84914 ENSG00000198466 OTTHUMG00000154901 uc002qql.4 AF294842 NM_032828 "CCDS12964|CCDS56110" Q96SQ5 10520746 HGNC:30955 "ENST00000339656.8|NM_032828.4" +HGNC:37142 ZNF587B zinc finger protein 587B protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2012-02-01 2021-04-27 100293516 ENSG00000269343 OTTHUMG00000183479 uc061dnm.1 AK299091 NM_001204818 CCDS56109 E7ETH6 HGNC:37142 "ENST00000594901.2|NM_001376223.1" +HGNC:42438 ZNF587P1 zinc finger protein 587 pseudogene 1 pseudogene pseudogene Approved 3p23 03p23 2011-07-27 2011-07-27 100419751 ENSG00000223965 OTTHUMG00000155827 NG_025682 PGOHUM00000237978 HGNC:42438 +HGNC:16747 ZNF589 zinc finger protein 589 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 SZF1 Zinc fingers C2H2-type 28 2004-02-26 2021-04-27 51385 ENSG00000164048 OTTHUMG00000156833 uc003csl.5 AF114816 NM_016089 CCDS43085 Q86UQ0 10029171 616702 HGNC:16747 "ENST00000354698.8|NM_016089.3" HGNC:16747 +HGNC:28986 ZNF592 zinc finger protein 592 protein-coding gene gene with protein product Approved 15q25.3 15q25.3 "KIAA0211|CAMOS" SCAR5 spinocerebellar ataxia, autosomal recessive 5 Zinc fingers C2H2-type 28 2004-02-24 2019-08-21 9640 ENSG00000166716 OTTHUMG00000172490 uc002bld.4 D86966 NM_014630 CCDS32317 Q92610 "9039502|12030328|20531441" MGI:2443541 RGD:1308705 613624 244368 HGNC:28986 "ENST00000560079.7|NM_014630.3" +HGNC:30943 ZNF593 zinc finger protein 593 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 ZT86 Zinc fingers C2H2-type 28 2004-02-27 2016-10-05 51042 ENSG00000142684 OTTHUMG00000007538 uc001bll.5 D45213 NM_015871 CCDS275 O00488 9115366 MGI:1915290 RGD:1310179 616698 HGNC:30943 "ENST00000374266.7|NM_015871.5" +HGNC:41278 ZNF593OS ZNF593 opposite strand protein-coding gene gene with protein product Approved 1p36.11 01p36.11 2020-09-10 2020-09-10 118568799 ENSG00000236782 OTTHUMG00000007539 NM_001395468 A0A0U1RRA0 MGI:3528958 +HGNC:29392 ZNF594 zinc finger protein 594 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 KIAA1871 Zinc fingers C2H2-type 28 2004-02-27 2021-04-27 84622 ENSG00000180626 OTTHUMG00000132059 uc010cla.2 AB058774 NM_032530 CCDS42241 Q96JF6 11347906 RGD:9163837 HGNC:29392 "ENST00000575779.2|NM_032530.2" +HGNC:55347 ZNF594-DT ZNF594 divergent transcript non-coding RNA RNA, long non-coding Approved 17p13.2 17p13.2 Divergent transcripts 1990 2020-11-04 2020-11-04 100130950 ENSG00000261879 NR_034082 +HGNC:27196 ZNF595 zinc finger protein 595 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ31740 Zinc fingers C2H2-type 28 2004-03-01 2021-04-27 152687 ENSG00000272602 OTTHUMG00000159865 uc032szy.1 BX537887 NM_182524 "CCDS75075|CCDS75077|CCDS75076" Q8IYB9 12477932 "MGI:107768|MGI:1920057|MGI:3040674|MGI:3040694|MGI:3040702|MGI:3040703|MGI:3040708|MGI:3044162" HGNC:27196 "ENST00000610261.6|NM_182524.4" +HGNC:27268 ZNF596 zinc finger protein 596 protein-coding gene gene with protein product Approved 8p23.3 08p23.3 Zinc fingers C2H2-type 28 2004-03-01 2021-04-27 169270 ENSG00000172748 OTTHUMG00000086931 uc033azn.1 BC026190 NM_173539 CCDS5951 Q8TC21 12477932 HGNC:27268 "ENST00000398612.3|NM_001042416.3" +HGNC:26573 ZNF597 zinc finger protein 597 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ33071|HIT-4" Zinc fingers C2H2-type 28 2004-03-01 2021-04-27 146434 ENSG00000167981 OTTHUMG00000129359 uc002cvd.4 AK057633 NM_152457 CCDS10505 Q96LX8 19968752 MGI:1918313 RGD:628674 LRG_1066|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1066.xml 614685 HGNC:26573 "ENST00000301744.7|NM_152457.3" +HGNC:28079 ZNF598 zinc finger protein 598, E3 ubiquitin ligase protein-coding gene gene with protein product Approved 16p13.3 16p13.3 "FLJ00086|HEL2" "Zinc fingers C2H2-type|Ring finger proteins" "28|58" 2004-03-01 2020-03-09 2020-03-09 90850 ENSG00000167962 OTTHUMG00000176955 uc002cof.3 BC029270 NM_178167 Q86UK7 28685749 MGI:2670965 RGD:1304900 617508 HGNC:28079 +HGNC:26408 ZNF599 zinc finger protein 599 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 FLJ30663 Zinc fingers C2H2-type 28 2004-03-05 2021-04-27 148103 ENSG00000153896 OTTHUMG00000182346 uc010edn.2 AK055225 NM_001007248 CCDS32991 Q96NL3 RGD:6499588 HGNC:26408 "ENST00000329285.13|NM_001007248.3" +HGNC:30951 ZNF600 zinc finger protein 600 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "KR-ZNF1|DKFZp686F06123" Zinc fingers C2H2-type 28 2004-03-05 2021-04-27 162966 ENSG00000189190 OTTHUMG00000182686 uc002qab.5 U52096 NM_198457 CCDS12856 Q6ZNG1 12576331 MGI:3705222 HGNC:30951 +HGNC:29407 ZNF601P zinc finger protein 601, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "dJ313I6.8|D6S2711|PRD51p" "zinc finger protein 601 pseudogene|zinc finger protein 601 (pseudogene)" 2004-11-25 2010-08-03 2015-10-30 493824 NG_029789 HGNC:29407 +HGNC:23313 ZNF602P zinc finger protein 602, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 dJ265C24.5 "zinc finger protein 602 pseudogene|zinc finger protein 602 (pseudogene)" 2004-11-25 2010-08-03 2020-04-20 100419608 ENSG00000219392 OTTHUMG00000014508 NG_025918 PGOHUM00000301714 HGNC:23313 +HGNC:23322 ZNF603P zinc finger protein 603, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 p373c6.7 "zinc finger protein 603 pseudogene|zinc finger protein 603 (pseudogene)" 2004-11-25 2010-08-03 2015-10-30 493821 ENSG00000216901 OTTHUMG00000014516 NG_032184 PGOHUM00000301715 HGNC:23322 +HGNC:28068 ZNF605 zinc finger protein 605 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 Zinc fingers C2H2-type 28 2004-03-15 2009-09-11 2009-09-11 2021-04-27 100289635 ENSG00000196458 OTTHUMG00000167934 uc001ulh.4 AL832623 NM_183238 "CCDS53850|CCDS31938" Q86T29 MGI:2444933 RGD:2318406 HGNC:28068 "ENST00000360187.9|NM_183238.4" +HGNC:25879 ZNF606 zinc finger protein 606 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "FLJ14260|KIAA1852" ZNF328 Zinc fingers C2H2-type 28 2004-03-18 2021-04-27 80095 ENSG00000166704 OTTHUMG00000169804 uc002qqw.4 AB058755 NM_025027 CCDS12968 Q8WXB4 11347906 MGI:1914620 RGD:1309810 613905 HGNC:25879 "ENST00000551380.7|NM_001348022.3" HGNC:25879 +HGNC:28192 ZNF607 zinc finger protein 607 protein-coding gene gene with protein product Approved 19q13.1 19q13.1 "MGC13071|FLJ14802" Zinc fingers C2H2-type 28 2004-03-18 2021-04-27 84775 ENSG00000198182 OTTHUMG00000182108 uc002ohc.2 AK127464 NM_032689 "CCDS33006|CCDS54259" Q96SK3 14702039 HGNC:28192 "ENST00000355202.9|NM_032689.5" +HGNC:29238 ZNF608 zinc finger protein 608 protein-coding gene gene with protein product Approved 5q23.2 05q23.2 "KIAA1281|DKFZp434M098|NY-REN-36" Zinc fingers C2H2-type 28 2004-03-19 2018-11-23 57507 ENSG00000168916 OTTHUMG00000162999 uc003ktq.2 AB033107 NM_020747 CCDS34219 Q9ULD9 "10574462|10508479" MGI:2442338 RGD:1306824 HGNC:29238 "ENST00000513986.2|NM_020747.3" +HGNC:29003 ZNF609 zinc finger protein 609 protein-coding gene gene with protein product Approved 15q22.1 15q22.1 KIAA0295 Zinc fingers C2H2-type 28 2004-03-19 2020-04-01 23060 ENSG00000180357 OTTHUMG00000172370 uc002ann.4 BC014251 NM_015042 CCDS32270 O15014 9205841 MGI:2674092 RGD:1561651 617474 HGNC:29003 "ENST00000326648.5|NM_015042.2" +HGNC:26687 ZNF610 zinc finger protein 610 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ36040 Zinc fingers C2H2-type 28 2004-03-29 2021-04-27 162963 ENSG00000167554 OTTHUMG00000182645 uc002pyx.5 AK093359 NM_173530 "CCDS12851|CCDS54309" Q8N9Z0 12477932 MGI:108187 HGNC:26687 "ENST00000403906.8|NM_001161425.2" +HGNC:28766 ZNF611 zinc finger protein 611 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 MGC5384 Zinc fingers C2H2-type 28 2004-03-29 2021-04-27 81856 ENSG00000213020 OTTHUMG00000154908 uc010ydp.2 AK091389 NM_030972 "CCDS54312|CCDS12855" Q8N823 12477932 HGNC:28766 "ENST00000652185.1|NM_001161499.2" +HGNC:25827 ZNF613 zinc finger protein 613 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ13590 Zinc fingers C2H2-type 28 2004-03-29 2021-04-27 79898 ENSG00000176024 OTTHUMG00000182424 uc061bzl.1 AK027565 NM_024840 "CCDS33089|CCDS12844" Q6PF04 12477932 HGNC:25827 "ENST00000293471.11|NM_001031721.4" +HGNC:24722 ZNF614 zinc finger protein 614 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ21941 Zinc fingers C2H2-type 28 2004-03-29 2021-04-27 80110 ENSG00000142556 OTTHUMG00000182551 uc002pyj.4 BC022246 NM_025040 CCDS12847 Q8N883 12477932 HGNC:24722 "ENST00000270649.11|NM_025040.4" +HGNC:24740 ZNF615 zinc finger protein 615 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ33710 Zinc fingers C2H2-type 28 2004-03-29 2021-04-27 284370 ENSG00000197619 OTTHUMG00000182550 uc002pye.3 AK096691 NM_198480 "CCDS12846|CCDS59418|CCDS82387" Q8N8J6 12477932 HGNC:24740 "ENST00000598071.6|NM_001199324.2" +HGNC:28062 ZNF616 zinc finger protein 616 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 MGC45556 Zinc fingers C2H2-type 28 2004-03-29 2021-04-27 90317 ENSG00000204611 OTTHUMG00000182566 uc002pym.4 AK092266 NM_178523 CCDS33090 Q08AN1 MGI:108187 HGNC:28062 "ENST00000600228.6|NM_178523.5" +HGNC:29416 ZNF618 zinc finger protein 618 protein-coding gene gene with protein product Approved 9q32 09q32 "KIAA1952|NEDD10" neural precursor cell expressed, developmentally down-regulated 10 Zinc fingers C2H2-type 28 2004-04-15 2018-11-23 114991 ENSG00000157657 OTTHUMG00000020532 uc004bic.4 BC012922 NM_133374 "CCDS83403|CCDS48008|CCDS83402" Q5T7W0 11853319 MGI:1919950 RGD:1310743 617077 HGNC:29416 "ENST00000374126.10|NM_001318042.2" +HGNC:26910 ZNF619 zinc finger protein 619 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ90764 Zinc fingers C2H2-type 28 2004-04-15 2021-04-27 285267 ENSG00000177873 OTTHUMG00000131391 uc011azb.3 AK075245 NM_173656 "CCDS46803|CCDS46801|CCDS46802" Q8N2I2 HGNC:26910 "ENST00000432264.4|NM_001145093.4" +HGNC:50784 ZNF619P1 zinc finger protein 619 pseudogene 1 pseudogene pseudogene Approved 7p12.3 07p12.3 2014-06-18 2014-06-18 100419776 ENSG00000224547 OTTHUMG00000155473 NG_026563 PGOHUM00000233223 HGNC:50784 +HGNC:28742 ZNF620 zinc finger protein 620 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 MGC50836 Zinc fingers C2H2-type 28 2004-04-15 2021-04-27 253639 ENSG00000177842 OTTHUMG00000156044 uc003ckk.5 AK093599 NM_175888 "CCDS33740|CCDS58825" Q6ZNG0 12477932 HGNC:28742 "ENST00000314529.10|NM_175888.4" +HGNC:24787 ZNF621 zinc finger protein 621 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ45246 Zinc fingers C2H2-type 28 2004-04-15 2021-04-27 285268 ENSG00000172888 OTTHUMG00000131389 uc003ckn.4 AK127181 NM_198484 "CCDS74920|CCDS2693" Q6ZSS3 HGNC:24787 "ENST00000339296.10|NM_198484.5" +HGNC:30958 ZNF622 zinc finger protein 622 protein-coding gene gene with protein product Approved 5p15.1 05p15.1 "MGC2485|MGC17552|ZPR9" 2004-04-19 2014-11-18 90441 ENSG00000173545 OTTHUMG00000090567 uc003jfq.4 AY046059 NM_033414 CCDS3886 Q969S3 "11802789|12645566" MGI:1289282 RGD:1309146 608694 HGNC:30958 "ENST00000308683.3|NM_033414.3" +HGNC:55158 ZNF622P1 ZNF622 pseudogene 1 pseudogene pseudogene Approved Xq28 Xq28 2020-07-17 2020-07-17 100419792 ENSG00000233688 NG_026784 +HGNC:29084 ZNF623 zinc finger protein 623 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 KIAA0628 Zinc fingers C2H2-type 28 2004-04-20 2021-04-27 9831 ENSG00000183309 OTTHUMG00000165186 uc003yzd.3 AB014528 NM_014789 "CCDS34957|CCDS47931" O75123 9734811 MGI:1926084 RGD:7635192 HGNC:29084 "ENST00000526926.6|NM_001261843.2" +HGNC:29254 ZNF624 zinc finger protein 624 protein-coding gene gene with protein product Approved 17p11.2 17p11.2 KIAA1349 Zinc fingers C2H2-type 28 2004-04-22 2021-04-27 57547 ENSG00000197566 OTTHUMG00000058996 uc010cpi.3 AB037770 NM_020787 CCDS11180 Q9P2J8 10718198 MGI:99173 RGD:6503044 HGNC:29254 "ENST00000311331.12|NM_020787.4" +HGNC:30571 ZNF625 zinc finger protein 625 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zinc fingers C2H2-type 28 2004-04-22 2021-04-27 90589 ENSG00000257591 OTTHUMG00000156407 uc010dyo.3 BC007868 NM_145233 CCDS12269 Q96I27 12477932 HGNC:30571 "ENST00000439556.3|NM_145233.4" +HGNC:48368 ZNF625-ZNF20 ZNF625-ZNF20 readthrough (NMD candidate) other readthrough Approved 19p13.2 19p13.2 2013-05-14 2013-05-14 100529855 ENSG00000213297 OTTHUMG00000170135 NR_037802 RGD:7648507 HGNC:48368 +HGNC:30461 ZNF626 zinc finger protein 626 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2004-04-22 2021-04-27 199777 ENSG00000188171 OTTHUMG00000179733 uc060wew.1 BC007116 NM_145297 "CCDS32976|CCDS42535" Q68DY1 12477932 MGI:3040701 HGNC:30461 "ENST00000601440.6|NM_001076675.3" +HGNC:30570 ZNF627 zinc finger protein 627 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ90365 Zinc fingers C2H2-type 28 2004-04-22 2021-04-27 199692 ENSG00000198551 OTTHUMG00000182035 uc002msk.3 AK074846 NM_145295 CCDS42502 Q7L945 26131132 612248 HGNC:30570 "ENST00000361113.10|NM_145295.4" +HGNC:28054 ZNF628 zinc finger protein 628 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "ZEC|Zfp628" Zinc finger expressed in Embryonal cells and Certain adult organs Zinc fingers C2H2-type 28 2005-04-12 2021-04-27 89887 ENSG00000197483 OTTHUMG00000150396 uc002qld.3 AF367249 NM_033113 CCDS33116 Q5EBL2 MGI:2665174 RGD:2323809 610671 HGNC:28054 "ENST00000598519.2|NM_033113.3" +HGNC:55271 ZNF628-DT ZNF628 divergent transcript non-coding RNA RNA, long non-coding Approved 19q13.42 19q13.42 Divergent transcripts 1990 2020-10-01 2020-10-01 118732301 ENSG00000269859 +HGNC:29008 ZNF629 zinc finger protein 629 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 KIAA0326 ZNF65 zinc finger protein 65 Zinc fingers C2H2-type 28 2004-04-23 2021-04-27 23361 ENSG00000102870 OTTHUMG00000176905 uc002dzs.1 AB002324 NM_015309 CCDS45463 Q9UEG4 9205841 MGI:2444524 RGD:1306257 619587 HGNC:29008 "ENST00000262525.6|NM_001080417.3" +HGNC:28855 ZNF630 zinc finger protein 630 protein-coding gene gene with protein product Approved Xp11.23 Xp11.23 "BC037316|dJ54B20.2|FLJ20573|MGC138344" Zinc fingers C2H2-type 28 2004-05-27 2021-04-27 57232 ENSG00000221994 OTTHUMG00000021463 uc022bvs.2 AK000580 NM_001037735 "CCDS75971|CCDS35237" Q2M218 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF630 300819 HGNC:28855 "ENST00000276054.9|NM_001282201.2" +HGNC:41215 ZNF630-AS1 ZNF630 antisense RNA 1 non-coding RNA RNA, long non-coding Approved Xp11.23 Xp11.23 ZNF630 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-29 2012-08-15 2016-11-24 100874120 ENSG00000277541 OTTHUMG00000021461 uc033ecd.2 NR_046742 ZNF630-AS1 HGNC:41215 +HGNC:17894 ZNF638 zinc finger protein 638 protein-coding gene gene with protein product Approved 2p13.3-p13.2 02p13.3-p13.2 "NP220|MGC26130|Zfp638" ZFML zinc finger, matrin-like RNA binding motif containing 725 2004-07-02 2004-07-30 2004-07-29 2018-02-13 27332 ENSG00000075292 OTTHUMG00000129735 uc002sia.4 D83032 NM_014497 CCDS1917 Q14966 8647861 MGI:1203484 RGD:1309746 614349 HGNC:17894 "ENST00000264447.9|NM_014497.5" +HGNC:30950 ZNF639 zinc finger protein 639 protein-coding gene gene with protein product Approved 3q26.33 03q26.33 "ANC-2H01|ZASC1" zinc finger amplified in esophageal squamous cell carcinomas 1 Zinc fingers C2H2-type 28 2004-07-30 2021-04-27 51193 ENSG00000121864 OTTHUMG00000157439 uc003fjr.2 BC020500 NM_016331 CCDS3227 Q9UID6 14522885 MGI:1915028 RGD:1585689 619214 HGNC:30950 "ENST00000496856.6|NM_001303426.2" +HGNC:31834 ZNF641 zinc finger protein 641 protein-coding gene gene with protein product Approved 12q13.11 12q13.11 FLJ31295 Zinc fingers C2H2-type 28 2005-05-04 2021-04-27 121274 ENSG00000167528 OTTHUMG00000169906 uc058nha.1 BC018090 NM_152320 "CCDS53787|CCDS53788|CCDS8763" Q96N77 MGI:2442788 RGD:1310412 613906 HGNC:31834 "ENST00000547026.6|NM_001172681.2" +HGNC:29222 ZNF644 zinc finger protein 644 protein-coding gene gene with protein product Approved 1p22.2 01p22.2 "KIAA1221|BM-005|MGC60165|MGC70410" Zinc fingers C2H2-type 28 2004-11-08 2014-11-19 84146 ENSG00000122482 OTTHUMG00000010078 uc001dnw.4 AB033047 NM_032186 "CCDS731|CCDS732" Q9H582 10574462 MGI:1277212 RGD:1306805 614159 HGNC:29222 "ENST00000337393.10|NM_201269.3" HGNC:29222 +HGNC:29004 ZNF646 zinc finger protein 646 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 KIAA0296 Zinc fingers C2H2-type 28 2004-12-08 2021-04-27 9726 ENSG00000167395 OTTHUMG00000047355 uc002eap.4 AB002294 NM_014699 CCDS10702 O15015 MGI:3665412 RGD:1561579 619299 HGNC:29004 "ENST00000300850.5|NM_014699.4" +HGNC:39749 ZNF646P1 zinc finger protein 646 pseudogene 1 pseudogene pseudogene Approved 13q14.3 13q14.3 2011-03-25 2015-10-30 100419854 ENSG00000274316 OTTHUMG00000187806 NG_024858 PGOHUM00000291966 HGNC:39749 +HGNC:18190 ZNF648 zinc finger protein 648 protein-coding gene gene with protein product Approved 1q25.3 01q25.3 FLJ46813 Zinc fingers C2H2-type 28 2004-10-18 2021-04-27 127665 ENSG00000179930 OTTHUMG00000037302 uc001goz.3 AK128654 NM_001009992 CCDS30952 Q5T619 MGI:2685049 RGD:2323778 HGNC:18190 "ENST00000339948.3|NM_001009992.1" +HGNC:25741 ZNF649 zinc finger protein 649 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ12644 Zinc fingers C2H2-type 28 2006-02-02 2021-04-27 65251 ENSG00000198093 OTTHUMG00000182423 uc002pxy.4 BC005368 NM_023074 CCDS12843 Q9BS31 15950191 611903 HGNC:25741 "ENST00000354957.8|NM_023074.4" +HGNC:51285 ZNF649-AS1 ZNF649 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2014-08-28 2014-08-28 101928571 ENSG00000268095 OTTHUMG00000182422 NR_110733 ZNF649-AS1 HGNC:51285 +HGNC:29147 ZNF652 zinc finger protein 652 protein-coding gene gene with protein product Approved 17q21.32 17q21.32 KIAA0924 Zinc fingers C2H2-type 28 2005-01-07 2020-04-01 22834 ENSG00000198740 OTTHUMG00000161322 uc002iow.4 AB023141 NM_014897 CCDS32677 Q9Y2D9 10231032 MGI:2442221 RGD:1566329 613907 HGNC:29147 "ENST00000430262.3|NM_001145365.3" +HGNC:55582 ZNF652-AS1 ZNF652 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 17q21.33 17q21.33 Antisense RNAs 1987 2021-04-23 2021-04-23 102724596 ENSG00000248714 NR_110882 +HGNC:35166 ZNF652P1 zinc finger protein 652 pseudogene 1 pseudogene pseudogene Approved 3p21.2 03p21.2 ZNF652P zinc finger protein 652 pseudogene 2008-10-09 2009-11-20 2009-11-20 2021-04-27 646592 ENSG00000235278 OTTHUMG00000156856 XM_929528 PGOHUM00000237627 HGNC:35166 +HGNC:25196 ZNF653 zinc finger protein 653 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zip67 "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 2005-01-07 2020-04-01 115950 ENSG00000161914 OTTHUMG00000182032 uc002mrz.2 AY072704 NM_138783 CCDS12261 Q96CK0 12477932 MGI:2442362 RGD:1308754 611371 HGNC:25196 "ENST00000293771.10|NM_138783.4" +HGNC:25612 ZNF654 zinc finger protein 654 protein-coding gene gene with protein product Approved 3p11.1 03p11.1 "FLJ10997|FLJ21142" Zinc fingers C2H2-type 28 2005-01-10 2005-01-10 55279 ENSG00000175105 OTTHUMG00000159097 uc003dqv.4 AF543494 NM_018293 CCDS87110 Q8IZM8 MGI:1919270 RGD:1308321 HGNC:25612 "ENST00000636215.2|NM_001350134.2" +HGNC:30899 ZNF655 zinc finger protein 655 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "VIK-1|VIK" Zinc fingers C2H2-type 28 2005-01-11 2021-04-27 79027 ENSG00000197343 OTTHUMG00000185968 uc003urj.5 AY099353 NM_138494 "CCDS47655|CCDS34695|CCDS5670|CCDS5669" Q8N720 "11179890|15558030" MGI:1919861 RGD:1309158 617891 HGNC:30899 "ENST00000252713.9|NM_138494.3" +HGNC:25226 ZNF658 zinc finger protein 658 protein-coding gene gene with protein product Approved 9q21.11 09q21.11 "MGC35232|DKFZp572C163|FLJ32813" Zinc fingers C2H2-type 28 2005-01-20 2021-04-27 26149 ENSG00000274349 OTTHUMG00000188361 uc004abs.2 AA482262 NM_033160 CCDS75846 Q5TYW1 RGD:7740563 616290 HGNC:25226 "ENST00000621410.5|NM_033160.7" +HGNC:32033 ZNF658B zinc finger protein 658B (pseudogene) pseudogene pseudogene Approved 9p12 09p12 zinc finger protein 658B 2005-08-30 2016-01-06 2021-10-07 401509 ENSG00000198416 OTTHUMG00000171406 AK095694 NR_003528 Q4V348 PGOHUM00000303804 HGNC:32033 +HGNC:26720 ZNF660 zinc finger protein 660 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 FLJ36870 Zinc fingers C2H2-type 28 2005-02-07 2021-04-27 285349 ENSG00000144792 OTTHUMG00000133097 uc003cnl.2 AK094189 NM_173658 CCDS2716 Q6AZW8 RGD:11394460 HGNC:26720 "ENST00000322734.2|NM_173658.4" +HGNC:31930 ZNF662 zinc finger protein 662 protein-coding gene gene with protein product Approved 3p22.1 03p22.1 FLJ45880 Zinc fingers C2H2-type 28 2005-03-04 2021-04-27 389114 ENSG00000182983 OTTHUMG00000133041 uc003cmk.3 AK127779 NM_207404 "CCDS46807|CCDS2708" Q6ZS27 HGNC:31930 "ENST00000440367.7|NM_207404.4" +HGNC:25342 ZNF663P zinc finger protein 663, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 DKFZp547G0215 ZNF663 zinc finger protein 663 Zinc fingers C2H2-type 28 2005-03-17 2013-09-26 2013-09-26 2021-10-07 100130934 ENSG00000215452 OTTHUMG00000032648 NR_045983 MGI:2685854 PGOHUM00000250546 HGNC:25342 +HGNC:25406 ZNF664 zinc finger protein 664 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 "ZFOC1|DKFZp761B128" zinc finger, organ of Corti 1 ZNF176 zinc finger protein 176 Zinc fingers C2H2-type 28 2005-03-17 2021-04-27 144348 ENSG00000179195 OTTHUMG00000168596 uc058uwb.1 NM_152437 CCDS9257 Q8N3J9 21695231 MGI:2442505 RGD:6491226 617890 HGNC:25406 "ENST00000337815.9|NM_152437.3" +HGNC:25885 ZNF665 zinc finger protein 665 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "FLJ14345|ZFP160L" Zinc fingers C2H2-type 28 2005-03-17 2021-04-27 79788 ENSG00000197497 OTTHUMG00000182885 uc010eqm.2 NM_024733 CCDS46169 Q9H7R5 MGI:108187 RGD:2319215 HGNC:25885 "ENST00000396424.5|NM_024733.5" +HGNC:28854 ZNF667 zinc finger protein 667 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ14011 Zinc fingers C2H2-type 28 2005-03-18 2021-04-27 63934 ENSG00000198046 OTTHUMG00000181941 uc002qnd.4 NM_022103 CCDS12944 Q5HYK9 MGI:2442757 RGD:1359114 611024 HGNC:28854 "ENST00000504904.8|NM_001321356.2" +HGNC:44321 ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 MORT Mortal Obligate RNA Transcript Antisense RNAs 1987 2013-05-21 2018-06-15 100128252 ENSG00000166770 OTTHUMG00000181942 "AW955601|BC110411" NR_036521 "26646903|29707199" ZNF667-AS1 HGNC:44321 +HGNC:25821 ZNF668 zinc finger protein 668 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ13479 Zinc fingers C2H2-type 28 2005-03-18 2021-04-27 79759 ENSG00000167394 OTTHUMG00000047357 uc002eao.4 NM_024706 "CCDS54003|CCDS10701" Q96K58 "21852383|23777805" MGI:2442943 RGD:1308623 617103 HGNC:25821 "ENST00000300849.5|NM_024706.5" +HGNC:25736 ZNF669 zinc finger protein 669 protein-coding gene gene with protein product Approved 1q44 01q44 FLJ12606 Zinc fingers C2H2-type 28 2005-03-18 2021-04-27 79862 ENSG00000188295 OTTHUMG00000040869 uc001ice.3 NM_024804 "CCDS31088|CCDS44345" Q96BR6 12477932 HGNC:25736 "ENST00000448299.7|NM_001142572.2" +HGNC:28167 ZNF670 zinc finger protein 670 protein-coding gene gene with protein product Approved 1q44 01q44 MGC12466 Zinc fingers C2H2-type 28 2005-03-18 2021-04-27 93474 ENSG00000277462 OTTHUMG00000040868 uc001icd.3 NM_033213 CCDS31087 Q9BS34 12477932 "MGI:1914119|MGI:2142546|MGI:3029586|MGI:3584369" RGD:1597136 HGNC:28167 "ENST00000366503.3|NM_033213.5" +HGNC:49200 ZNF670-ZNF695 ZNF670-ZNF695 readthrough (NMD candidate) other readthrough Approved 1q44 01q44 2013-09-30 2015-08-17 100533111 ENSG00000135747 OTTHUMG00000187277 NR_037894 HGNC:49200 +HGNC:26279 ZNF671 zinc finger protein 671 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ23506 hypothetical protein FLJ23506 Zinc fingers C2H2-type 28 2005-03-25 2021-04-27 79891 ENSG00000083814 OTTHUMG00000183476 uc002qpz.5 NM_024833 CCDS12961 Q8TAW3 30633424 HGNC:26279 "ENST00000317398.10|NM_024833.3" +HGNC:26179 ZNF672 zinc finger protein 672 protein-coding gene gene with protein product Approved 1q44 01q44 FLJ22301 hypothetical protein FLJ22301 Zinc fingers C2H2-type 28 2005-03-25 2021-04-27 79894 ENSG00000171161 OTTHUMG00000040377 uc001iex.4 AK027476 NM_024836 CCDS1638 Q499Z4 12477932 MGI:2442105 RGD:1359094 HGNC:26179 "ENST00000306562.8|NM_024836.3" +HGNC:17625 ZNF674 zinc finger protein 674 protein-coding gene gene with protein product Approved Xp11.3 Xp11.3 ZNF673B MRX92 Zinc fingers C2H2-type 28 2005-10-27 2010-09-15 2021-04-27 641339 ENSG00000251192 OTTHUMG00000021420 uc004dgr.4 AY971607 NM_001039891 "CCDS48099|CCDS55406" Q2M3X9 16385466 300573 471368 HGNC:17625 "ENST00000683375.1|NM_001190417.2" HGNC:17625 +HGNC:44266 ZNF674-AS1 ZNF674 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved Xp11.3 Xp11.3 "ZNF674 antisense RNA 1 (non-protein coding)|ZNF674 antisense RNA 1" Antisense RNAs 1987 2012-08-02 2012-10-17 2017-02-16 401588 ENSG00000230844 OTTHUMG00000021424 uc004dgs.6 "BC034616|DA707714" NR_015378 27896271 ZNF674-AS1 HGNC:44266 +HGNC:30768 ZNF675 zinc finger protein 675 protein-coding gene gene with protein product Approved 19p12 19p12 "TIZ|TBZF" TRAF6 inhibitory zinc finger Zinc fingers C2H2-type 28 2005-03-28 2021-04-27 171392 ENSG00000197372 OTTHUMG00000183384 uc002nri.4 NM_138330 CCDS32981 Q8TD23 11751921 471370 HGNC:30768 "ENST00000359788.9|NM_138330.3" +HGNC:20429 ZNF676 zinc finger protein 676 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2005-03-30 2021-04-27 163223 ENSG00000196109 OTTHUMG00000182934 uc002nqs.2 AK097798 NM_001001411 CCDS42539 Q8N7Q3 HGNC:20429 "ENST00000397121.3|NM_001001411.3" +HGNC:28730 ZNF677 zinc finger protein 677 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC48625 hypothetical protein MGC48625 Zinc fingers C2H2-type 28 2005-03-31 2021-04-27 342926 ENSG00000197928 OTTHUMG00000182890 uc002qbg.2 BC050038 NM_182609 CCDS12861 Q86XU0 25504438 HGNC:28730 "ENST00000598513.6|NM_182609.4" +HGNC:28652 ZNF678 zinc finger protein 678 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 MGC42493 hypothetical protein MGC42493 Zinc fingers C2H2-type 28 2005-03-31 2021-04-27 339500 ENSG00000181450 OTTHUMG00000037700 uc001hqw.3 BC042500 NM_178549 Q5SXM1 12477932 HGNC:28652 "ENST00000343776.10|NM_001367909.1" +HGNC:28650 ZNF679 zinc finger protein 679 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 MGC42415 hypothetical protein MGC42415 Zinc fingers C2H2-type 28 2005-03-31 2021-04-27 168417 ENSG00000197123 OTTHUMG00000156486 uc003tsx.3 BC033523 NM_153363 CCDS47592 Q8IYX0 12477932 MGI:3040701 HGNC:28650 "ENST00000421025.3|NM_153363.3" +HGNC:26897 ZNF680 zinc finger protein 680 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 FLJ90430 hypothetical protein FLJ90430 Zinc fingers C2H2-type 28 2005-03-31 2021-04-27 340252 ENSG00000173041 OTTHUMG00000156542 uc003tta.3 AK074911 NM_178558 "CCDS47594|CCDS34644" Q8NEM1 12477932 HGNC:26897 "ENST00000309683.11|NM_178558.5" +HGNC:50379 ZNF680P1 ZNF680 pseudogene 1 pseudogene pseudogene Approved 7q11.21 07q11.21 2014-04-24 2014-04-24 728947 ENSG00000228014 OTTHUMG00000156541 NG_022565 PGOHUM00000233359 HGNC:50379 +HGNC:26457 ZNF681 zinc finger protein 681 protein-coding gene gene with protein product Approved 19p12 19p12 FLJ31526 hypothetical protein FLJ31526 Zinc fingers C2H2-type 28 2005-03-31 2021-04-27 148213 ENSG00000196172 OTTHUMG00000150831 uc002nrk.4 AK056088 NM_138286 CCDS12414 Q96N22 "MGI:107768|MGI:2664334|MGI:3040702|MGI:3040703|MGI:3040706|MGI:3040707" HGNC:26457 "ENST00000402377.3|NM_138286.3" +HGNC:28857 ZNF682 zinc finger protein 682 protein-coding gene gene with protein product Approved 19p12 19p12 BC39498_3 Zinc fingers C2H2-type 28 2005-03-31 2021-04-27 91120 ENSG00000197124 OTTHUMG00000182650 uc002noq.4 AC006539 NM_033196 "CCDS42533|CCDS42534" O95780 "MGI:2664334|MGI:3040706|MGI:3040707" HGNC:28857 "ENST00000397165.7|NM_033196.3" +HGNC:28495 ZNF683 zinc finger protein 683 protein-coding gene gene with protein product Approved 1p36.11 01p36.11 "MGC33414|Hobit" homolog of Blimp-1 in T cells Zinc fingers C2H2-type 28 2005-03-31 2015-08-26 257101 ENSG00000176083 OTTHUMG00000003521 uc001bmh.2 BC029505 NM_173574 "CCDS279|CCDS76126" Q8IZ20 22885984 MGI:3650254 RGD:2323855 616775 HGNC:28495 "ENST00000349618.8|NM_001114759.3" +HGNC:28418 ZNF684 zinc finger protein 684 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 MGC27466 hypothetical protein MGC27466 Zinc fingers C2H2-type 28 2005-04-03 2021-04-27 127396 ENSG00000117010 OTTHUMG00000007359 uc001cft.2 NM_152373 CCDS454 Q5T5D7 12477932 HGNC:28418 "ENST00000372699.8|NM_152373.4" +HGNC:29277 ZNF687 zinc finger protein 687 protein-coding gene gene with protein product Approved 1q21.3 01q21.3 KIAA1441 Zinc fingers C2H2-type 28 2005-05-06 2016-10-05 57592 ENSG00000143373 OTTHUMG00000012347 uc001exq.4 NM_020832 CCDS992 Q8N1G0 10718198 MGI:1925516 RGD:2323182 610568 451453 HGNC:29277 "ENST00000336715.11|NM_020832.3" HGNC:29277 +HGNC:54048 ZNF687-AS1 ZNF687 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1q21.3 01q21.3 Antisense RNAs 1987 2018-09-26 2018-09-26 100507670 ENSG00000232671 OTTHUMG00000012346 NR_135595 HGNC:54048 +HGNC:30489 ZNF688 zinc finger protein 688 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 Zinc fingers C2H2-type 28 2005-05-09 2021-04-27 146542 ENSG00000229809 OTTHUMG00000132408 uc002dyt.4 AK122680 NM_145271 "CCDS10684|CCDS42151" P0C7X2 10493829 MGI:1916484 RGD:1310765 HGNC:30489 "ENST00000223459.11|NM_145271.4" +HGNC:25173 ZNF689 zinc finger protein 689 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 "FLJ90415|TIPUH1" Zinc fingers C2H2-type 28 2005-05-09 2021-04-27 115509 ENSG00000156853 OTTHUMG00000132415 uc002dyx.5 BC014000 NM_138447 CCDS10686 "C0HLU2|Q96CS4" 16568080 MGI:1918381 RGD:628696 618033 HGNC:25173 "ENST00000287461.8|NM_138447.3" +HGNC:28028 ZNF691 zinc finger protein 691 protein-coding gene gene with protein product Approved 1p34.2 01p34.2 Zfp691 Zinc fingers C2H2-type 28 2005-05-13 2021-04-27 51058 ENSG00000164011 OTTHUMG00000007623 uc001cig.4 NM_015911 "CCDS476|CCDS55595" Q5VV52 "8619474|9110174" MGI:3041163 RGD:1308150 HGNC:28028 "ENST00000651192.1|NM_001242739.2" +HGNC:55800 ZNF691-DT ZNF691 divergent transcript non-coding RNA RNA, long non-coding Approved 1p34.2 01p34.2 Divergent transcripts 1990 2021-07-29 2021-07-29 122152325 ENSG00000228192 +HGNC:26049 ZNF692 zinc finger protein 692 protein-coding gene gene with protein product Approved 1q44 01q44 "FLJ20531|Zfp692|AREBP" AICAR responsive element binding protein Zinc fingers C2H2-type 28 2005-05-13 2015-01-12 55657 ENSG00000171163 OTTHUMG00000040423 uc001ifc.3 BC002948 NM_017865 "CCDS44348|CCDS31127|CCDS53487" Q9BU19 17097062 MGI:2144276 RGD:1306740 617758 HGNC:26049 "ENST00000306601.9|NM_017865.4" +HGNC:55817 ZNF692-DT ZNF692 divergent transcript non-coding RNA RNA, long non-coding Approved 1q44 01q44 2021-07-30 2021-07-30 122152365 ENSG00000227237 +HGNC:30954 ZNF695 zinc finger protein 695 protein-coding gene gene with protein product Approved 1q44 01q44 SBZF3 Zinc fingers C2H2-type 28 2005-05-23 2021-04-27 57116 ENSG00000197472 OTTHUMG00000040707 uc009xgu.4 NM_020394 "CCDS55694|CCDS44344" Q8IW36 24007497 "MGI:2664334|MGI:3040706|MGI:3040707" 616348 HGNC:30954 "ENST00000339986.8|NM_020394.5" +HGNC:25872 ZNF696 zinc finger protein 696 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 FLJ14129 Zinc fingers C2H2-type 28 2005-05-30 2021-04-27 79943 ENSG00000185730 OTTHUMG00000164957 uc003yxy.5 AK024191 NM_030895 CCDS6399 Q9H7X3 RGD:9074604 HGNC:25872 "ENST00000330143.8|NM_030895.3" +HGNC:32034 ZNF697 zinc finger protein 697 protein-coding gene gene with protein product Approved 1p12 01p12 MGC45731 Zinc fingers C2H2-type 28 2005-07-05 2021-04-27 90874 ENSG00000143067 OTTHUMG00000012962 uc001ehy.2 "AK027019|BC033126" NM_001080470 CCDS44202 Q5TEC3 MGI:2139736 RGD:1308711 HGNC:32034 "ENST00000421812.3|NM_001080470.2" +HGNC:24750 ZNF699 zinc finger protein 699 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "FLJ38144|hang" Zinc fingers C2H2-type 28 2005-08-11 2021-04-27 374879 ENSG00000196110 OTTHUMG00000179941 uc060syk.1 BC109268 NM_198535 CCDS42495 Q32M78 16940975 "MGI:1345179|MGI:1345189|MGI:1918758|MGI:1924012|MGI:1924367|MGI:2143755|MGI:2385058|MGI:2385298|MGI:2385323|MGI:2675306|MGI:3036263|MGI:3615331|MGI:3621440|MGI:3642994|MGI:3644476|MGI:3652219|MGI:3652255|MGI:3709324|MGI:3781781|MGI:3809" RGD:1564241 609571 HGNC:24750 "ENST00000591998.6|NM_198535.3" +HGNC:25292 ZNF700 zinc finger protein 700 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 DKFZp434I1610 Zinc fingers C2H2-type 28 2005-08-11 2021-04-27 90592 ENSG00000196757 OTTHUMG00000156421 uc002msu.5 AL136732 NM_144566 "CCDS74289|CCDS32915" Q9H0M5 HGNC:25292 "ENST00000254321.10|NM_144566.3" +HGNC:25597 ZNF701 zinc finger protein 701 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 FLJ10891 Zinc fingers C2H2-type 28 2005-08-12 2021-04-27 55762 ENSG00000167562 OTTHUMG00000182754 uc002pzs.3 AK001753 NM_018260 "CCDS54311|CCDS33092" Q9NV72 HGNC:25597 "ENST00000391785.8|NM_018260.3" +HGNC:25775 ZNF702P zinc finger protein 702, pseudogene pseudogene pseudogene Approved 19q13.41 19q13.41 FLJ12985 ZNF702 "zinc finger protein 702|zinc finger protein 702 pseudogene|zinc finger protein 702 (pseudogene)" 2005-08-12 2008-07-03 2010-08-03 2021-10-07 79986 ENSG00000242779 OTTHUMG00000150515 NR_003578 Q9H963 HGNC:25775 +HGNC:25883 ZNF703 zinc finger protein 703 protein-coding gene gene with protein product Approved 8p11.23 08p11.23 "FLJ14299|ZNF503L|NLZ1|Zpo1|ZEPPO1" zinc finger elbow-related proline domain protein 1 Zinc fingers C2H2-type 28 2005-08-16 2016-11-01 80139 ENSG00000183779 OTTHUMG00000164001 uc003xjy.2 AK024361 NM_025069 CCDS6094 Q9H7S9 "15897872|21317240" MGI:2662729 RGD:1588249 617045 HGNC:25883 "ENST00000331569.6|NM_025069.3" +HGNC:32291 ZNF704 zinc finger protein 704 protein-coding gene gene with protein product Approved 8q21.13 08q21.13 "FLJ16218|Gig1" Zinc fingers C2H2-type 28 2005-09-27 2014-11-19 619279 ENSG00000164684 OTTHUMG00000164733 uc003yby.2 AK131274 NM_001033723 CCDS34913 Q6ZNC4 MGI:2180715 RGD:1563869 HGNC:32291 "ENST00000327835.7|NM_001033723.3" +HGNC:32281 ZNF705A zinc finger protein 705A protein-coding gene gene with protein product Approved 12p13.31 12p13.31 FLJ16353 Zinc fingers C2H2-type 28 2005-09-22 2005-09-22 2021-04-27 440077 ENSG00000196946 OTTHUMG00000168635 uc058kvq.1 AK131339 NM_001004328 CCDS31737 Q6ZN79 RGD:1359109 HGNC:32281 +HGNC:32284 ZNF705B zinc finger protein 705B protein-coding gene gene with protein product Approved 8p23.1 08p23.1 Zinc fingers C2H2-type 28 2005-09-22 2020-04-20 100132396 ENSG00000215356 OTTHUMG00000165401 uc010lro.1 NM_001193630 CCDS55194 P0CI00 HGNC:32284 "ENST00000400120.3|NM_001193630.1" +HGNC:32283 ZNF705CP zinc finger protein 705C, pseudogene pseudogene pseudogene Approved 8p23.1 08p23.1 ZNF705C zinc finger protein 705C (pseudogene) 2005-09-22 2015-05-27 2012-09-17 2015-05-27 389631 ENSG00000215339 OTTHUMG00000165457 NG_005518 HGNC:32283 +HGNC:33202 ZNF705D zinc finger protein 705D protein-coding gene gene with protein product Approved 8p23.1 08p23.1 Zinc fingers C2H2-type 28 2006-12-21 2021-04-27 728957 ENSG00000215343 OTTHUMG00000165474 uc064kiq.1 BC110823 NM_001039615 CCDS43712 P0CH99 HGNC:33202 +HGNC:33203 ZNF705EP zinc finger protein 705E, pseudogene pseudogene pseudogene Approved 11q13.4 11q13.4 ZNF705E zinc finger protein 705E Zinc fingers C2H2-type 28 2006-12-21 2021-09-06 2021-09-06 2021-09-06 100131539 ENSG00000214534 OTTHUMG00000167482 NR_172892 CCDS86225 A8MWA4 PGOHUM00000258570 HGNC:33203 +HGNC:37134 ZNF705G zinc finger protein 705G protein-coding gene gene with protein product Approved 8p23.1 08p23.1 Zinc fingers C2H2-type 28 2009-07-20 2021-04-27 100131980 ENSG00000215372 OTTHUMG00000165384 uc033bav.2 NM_001164457 CCDS47773 A8MUZ8 HGNC:37134 "ENST00000400156.4|NM_001164457.3" +HGNC:24992 ZNF706 zinc finger protein 706 protein-coding gene gene with protein product Approved 8q22.3 08q22.3 HSPC038 2005-09-22 2016-11-01 51123 ENSG00000120963 OTTHUMG00000164823 uc064pdj.1 AF125099 NM_016096 CCDS6291 Q9Y5V0 11042152 MGI:1915286 RGD:1563959 619526 HGNC:24992 "ENST00000311212.9|NM_016096.5" +HGNC:27815 ZNF707 zinc finger protein 707 protein-coding gene gene with protein product Approved 8q24.3 08q24.3 Zinc fingers C2H2-type 28 2005-09-23 2021-04-27 286075 ENSG00000181135 OTTHUMG00000165146 uc010mfh.4 AK001126 NM_173831 CCDS47932 Q96C28 12477932 MGI:1916270 RGD:1311188 HGNC:27815 "ENST00000358656.9|NM_001100598.2" +HGNC:12945 ZNF708 zinc finger protein 708 protein-coding gene gene with protein product Approved 19p12 19p12 KOX8 "ZNF15|ZNF15L1" ZNF15, ZNF15L1 Zinc fingers C2H2-type 28 1990-06-13 2005-08-16 2006-08-22 2021-04-27 7562 ENSG00000182141 OTTHUMG00000182841 uc002npq.2 X52339 NM_021269 CCDS32980 P17019 2014798 HGNC:12945 "ENST00000356929.3|NM_021269.3" +HGNC:20629 ZNF709 zinc finger protein 709 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ38281 Zinc fingers C2H2-type 28 2005-10-04 2021-04-27 163051 ENSG00000242852 OTTHUMG00000156406 uc002mtv.5 AK095600 NM_152601 CCDS42504 Q8N972 "MGI:3588272|MGI:3642406|MGI:3652002|MGI:3709324" RGD:6493372 HGNC:20629 "ENST00000397732.8|NM_152601.4" +HGNC:25352 ZNF710 zinc finger protein 710 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 "DKFZp547K1113|FLJ37393|FLJ00306" "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 2005-10-30 2021-04-27 374655 ENSG00000140548 OTTHUMG00000149812 uc002bov.3 AK094712 NM_198526 CCDS10358 Q8N1W2 MGI:1921747 RGD:1306491 HGNC:25352 "ENST00000268154.9|NM_198526.4" +HGNC:53141 ZNF710-AS1 ZNF710 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 15q26.1 15q26.1 ENST00000558334 Antisense RNAs 1987 2017-02-16 2017-02-16 109729181 ENSG00000259291 OTTHUMG00000172032 NR_146321 27816668 HGNC:53141 +HGNC:13128 ZNF711 zinc finger protein 711 protein-coding gene gene with protein product Approved Xq21.1 Xq21.1 "CMPX1|ZNF4|ZNF5|dJ75N13.1|Zfp711|MRX97" "ZNF6|MRX65" "zinc finger protein 6 (CMPX1)|zinc finger protein 6|mental retardation, X-linked 65" Zinc fingers C2H2-type 28 1989-05-31 2006-06-29 2006-06-29 2021-04-27 7552 ENSG00000147180 OTTHUMG00000021933 uc004eeo.4 BC006349 NM_021998 "CCDS35344|CCDS83481" Q9Y462 "19377476|27993705" MGI:3045342 RGD:1562768 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZNF711 314990 290194 HGNC:13128 "ENST00000674551.1|NM_001330574.2" HGNC:13128 +HGNC:22043 ZNF713 zinc finger protein 713 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 FLJ39963 Zinc fingers C2H2-type 28 2006-01-20 2021-04-27 349075 ENSG00000178665 OTTHUMG00000156175 uc003trc.3 AK097282 NM_182633 CCDS34639 Q8N859 616181 HGNC:22043 "ENST00000429591.4|NM_182633.3" HGNC:22043 +HGNC:27124 ZNF714 zinc finger protein 714 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2006-01-17 2021-04-27 148206 ENSG00000160352 OTTHUMG00000182833 uc032hqo.2 AK056006 NM_182515 CCDS54239 Q96N38 12477932 HGNC:27124 "ENST00000456283.7|NM_182515.4" +HGNC:32458 ZNF716 zinc finger protein 716 protein-coding gene gene with protein product Approved 7p11.2 07p11.2 FLJ46189 Zinc fingers C2H2-type 28 2006-01-17 2021-04-27 441234 ENSG00000182111 OTTHUMG00000156689 uc011kdi.2 AK131575 NM_001159279 CCDS55112 A6NP11 MGI:3040701 HGNC:32458 "ENST00000420713.2|NM_001159279.1" +HGNC:29448 ZNF717 zinc finger protein 717 protein-coding gene gene with protein product Approved 3p12.3 03p12.3 X17 ZNF838 zinc finger protein 838 Zinc fingers C2H2-type 28 2005-11-28 2021-04-27 100131827 ENSG00000227124 OTTHUMG00000158965 uc062lpg.1 AF226994 NM_001128223 "CCDS77773|CCDS77774" Q9BY31 RGD:1306633 618405 HGNC:29448 "ENST00000652011.2|NM_001290208.3" +HGNC:26889 ZNF718 zinc finger protein 718 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ90036 Zinc fingers C2H2-type 28 2006-01-20 2021-04-27 255403 ENSG00000250312 OTTHUMG00000159873 uc032tae.2 AK096662 NM_001039127 "CCDS75079|CCDS75078" Q3SXZ3 MGI:3040701 HGNC:26889 "ENST00000510175.6|NM_001039127.6" +HGNC:29425 ZNF721 zinc finger protein 721 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 KIAA1982 Zinc fingers C2H2-type 28 2006-01-17 2021-04-27 170960 ENSG00000182903 OTTHUMG00000112450 uc003gag.5 AK092362 NM_133474 CCDS46991 Q8TF20 11853319 "MGI:1916455|MGI:2446280|MGI:2664334|MGI:3036250|MGI:3040691|MGI:3040707" HGNC:29425 "ENST00000511833.3|NM_133474.4" +HGNC:22571 ZNF722 zinc finger protein 722 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 ZNF722P zinc finger protein 722, pseudogene Zinc fingers C2H2-type 28 2006-01-20 2021-09-24 2021-09-24 2021-09-24 100419780 ENSG00000241149 OTTHUMG00000156485 NM_001396012 A0A1W2PQL4 21738707 HGNC:22571 +HGNC:32286 ZNF723 zinc finger protein 723 protein-coding gene gene with protein product Approved 19p12 19p12 ZNF723P zinc finger protein 723, pseudogene Zinc fingers C2H2-type 28 2006-06-30 2017-03-30 2017-03-30 2021-04-27 646864 ENSG00000268696 OTTHUMG00000183120 DQ048837 NM_001349726 CCDS86735 P0DPD5 HGNC:32286 "ENST00000600766.3|NM_001349726.2" +HGNC:32460 ZNF724 zinc finger protein 724 protein-coding gene gene with protein product Approved 19p12 19p12 ZNF724P "zinc finger protein 724 pseudogene|zinc finger protein 724 (pseudogene)|zinc finger protein 724, pseudogene" Zinc fingers C2H2-type 28 2006-06-30 2016-07-19 2016-07-19 2021-04-27 440519 ENSG00000196081 OTTHUMG00000191860 uc060wjr.1 NM_001355404 CCDS86737 A8MTY0 HGNC:32460 "ENST00000418100.6|NM_001355404.2" +HGNC:32461 ZNF725P zinc finger protein 725, pseudogene pseudogene pseudogene Approved 19p12 19p12 ZNF725 zinc finger protein 725 2006-06-30 2012-04-20 2012-04-20 2021-04-27 100128853 ENSG00000268100 OTTHUMG00000183274 NG_011783 PGOHUM00000294962 HGNC:32461 +HGNC:32462 ZNF726 zinc finger protein 726 protein-coding gene gene with protein product Approved 19p12 19p12 ZNF92P3 zinc finger protein 92 pseudogene 3 Zinc fingers C2H2-type 28 2006-06-30 2021-04-27 730087 ENSG00000213967 OTTHUMG00000167681 uc060wlk.1 "DQ036016|BC046415" NM_001348689 "CCDS86739|CCDS59372|CCDS54241|CCDS86738" A6NNF4 "MGI:107768|MGI:1920057|MGI:1925501|MGI:3036250|MGI:3040674|MGI:3040694|MGI:3040702|MGI:3040703|MGI:3040706|MGI:3040708|MGI:3044162" HGNC:32462 "ENST00000594466.6|NM_001244038.2" +HGNC:13136 ZNF726P1 zinc finger protein 726 pseudogene 1 pseudogene pseudogene Approved 19p13.1 19p13.1 "ZNF67|ZNF67P" "zinc finger protein 67|zinc finger protein 67, pseudogene" 1991-10-08 2011-04-07 2011-04-07 2021-04-27 7618 M88376 NG_055543 Q15940 1505991 PGOHUM00000250601 HGNC:13136 +HGNC:22785 ZNF727 zinc finger protein 727 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 ZNF727P zinc finger protein 727, pseudogene Zinc fingers C2H2-type 28 2008-06-13 2014-09-09 2014-09-09 2021-04-27 442319 ENSG00000214652 OTTHUMG00000156536 uc011kdm.2 NM_001159522 CCDS55113 A8MUV8 "MGI:2664334|MGI:3040706|MGI:3040707" HGNC:22785 "ENST00000456806.3|NM_001159522.3" +HGNC:32463 ZNF728 zinc finger protein 728 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2006-06-30 2021-04-27 388523 ENSG00000269067 OTTHUMG00000183124 uc002nqz.3 BC128130 NM_001267716 CCDS59370 P0DKX0 RGD:1587241 HGNC:32463 "ENST00000594710.2|NM_001267716.2" +HGNC:32464 ZNF729 zinc finger protein 729 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2006-06-30 2021-04-27 100287226 ENSG00000196350 OTTHUMG00000182938 uc021urs.2 NM_001242680 CCDS59368 A6NN14 "MGI:1916455|MGI:2446280|MGI:2664334|MGI:3036250|MGI:3040691|MGI:3040706|MGI:3040707" RGD:7697243 HGNC:32464 "ENST00000601693.2|NM_001242680.2" +HGNC:32470 ZNF730 zinc finger protein 730 protein-coding gene gene with protein product Approved 19p12 19p12 Zinc fingers C2H2-type 28 2008-06-13 2021-04-27 100129543 ENSG00000183850 OTTHUMG00000183227 uc031rkc.2 AK131472 NM_001277403 CCDS59371 Q6ZMV8 HGNC:32470 "ENST00000597761.7|NM_001277403.2" +HGNC:32471 ZNF731P zinc finger protein 731, pseudogene pseudogene pseudogene Approved 1q44 01q44 ZNF731 zinc finger protein 731 2008-06-13 2012-04-20 2012-04-20 2021-04-27 729806 ENSG00000227671 NG_022762 PGOHUM00000296156 HGNC:32471 +HGNC:37138 ZNF732 zinc finger protein 732 protein-coding gene gene with protein product Approved 4p16.3 04p16.3 FLJ59067 Zinc fingers C2H2-type 28 2009-07-22 2009-07-22 2021-04-27 654254 ENSG00000186777 OTTHUMG00000159883 uc062udf.1 AK302099 NM_001137608 CCDS46990 B4DXR9 HGNC:37138 "ENST00000419098.6|NM_001137608.3" +HGNC:32473 ZNF733P zinc finger protein 733, pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 ZNF733 zinc finger protein 733 2008-06-12 2012-04-20 2012-04-20 2021-04-27 643955 ENSG00000185037 OTTHUMG00000156270 NR_003952 PGOHUM00000232782 HGNC:32473 +HGNC:32465 ZNF734P zinc finger protein 734, pseudogene pseudogene pseudogene Approved 7q11.21 07q11.21 ZNF734 zinc finger protein 734 2008-06-12 2012-04-20 2012-04-20 2021-04-27 644017 ENSG00000197990 OTTHUMG00000156384 NG_009437 PGOHUM00000233320 HGNC:32465 +HGNC:32466 ZNF735 zinc finger protein 735 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 ZNF735P zinc finger protein 735, pseudogene Zinc fingers C2H2-type 28 2007-05-31 2014-09-09 2014-09-09 2021-04-27 730291 ENSG00000223614 OTTHUMG00000156539 uc011kdn.3 NM_001159524 CCDS78236 P0CB33 HGNC:32466 +HGNC:32467 ZNF736 zinc finger protein 736 protein-coding gene gene with protein product Approved 7q11.21 07q11.21 Zinc fingers C2H2-type 28 2008-06-13 2021-04-27 728927 ENSG00000234444 OTTHUMG00000156537 uc003tsz.5 NM_001170905 CCDS55114 B4DX44 "MGI:2664334|MGI:3040706|MGI:3040707" HGNC:32467 "ENST00000423484.3|NM_001170905.3" +HGNC:37726 ZNF736P1Y zinc finger protein 736 pseudogene 1, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 ZNF736P1 zinc finger protein 736 pseudogene 1 2010-02-05 2010-06-28 2010-06-28 2021-04-27 442486 ENSG00000223978 OTTHUMG00000045205 NG_004755 PGOHUM00000233856 HGNC:37726 +HGNC:37727 ZNF736P2Y zinc finger protein 736 pseudogene 2, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 ZNF736P2 zinc finger protein 736 pseudogene 2 2010-02-05 2010-06-28 2010-06-28 2014-11-19 392603 ENSG00000226270 OTTHUMG00000045110 NG_004755 PGOHUM00000234066 HGNC:37727 +HGNC:37728 ZNF736P3Y zinc finger protein 736 pseudogene 3, Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 "ZNF381P|ZNF736P3" "zinc finger protein 381, Y-linked (pseudogene)|zinc finger protein 736 pseudogene 3" 2010-02-05 2010-06-28 2010-06-28 2016-10-05 246123 ENSG00000233126 OTTHUMG00000044062 NG_004755 PGOHUM00000234033 HGNC:37728 +HGNC:38464 ZNF736P4Y zinc finger protein 736 pseudogene 4, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-06-28 2010-06-28 2014-11-18 100419735 ENSG00000236379 OTTHUMG00000045206 NG_004755 PGOHUM00000234069 HGNC:38464 +HGNC:38597 ZNF736P5Y zinc finger protein 736 pseudogene 5, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-06-28 2010-06-28 2014-11-19 106480711 ENSG00000230819 OTTHUMG00000045198 NG_043491 PGOHUM00000233858 HGNC:38597 +HGNC:38440 ZNF736P6Y zinc finger protein 736 pseudogene 6, Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-06-28 2010-06-28 2014-11-19 100419732 ENSG00000224634 OTTHUMG00000041269 NG_024791 PGOHUM00000233912 HGNC:38440 +HGNC:38404 ZNF736P7Y zinc finger protein 736 pseudogene 7, Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-06-28 2010-06-28 2021-04-27 100419725 ENSG00000241200 OTTHUMG00000041059 NG_024762 HGNC:38404 +HGNC:38406 ZNF736P8Y zinc finger protein 736 pseudogene 8, Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-06-28 2010-06-28 2014-11-19 100419724 ENSG00000244246 OTTHUMG00000041058 NG_024761 PGOHUM00000233687 HGNC:38406 +HGNC:38408 ZNF736P9Y zinc finger protein 736 pseudogene 9, Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-06-28 2014-11-19 100419726 ENSG00000239893 OTTHUMG00000041061 NG_024763 PGOHUM00000233689 HGNC:38408 +HGNC:38410 ZNF736P10Y zinc finger protein 736 pseudogene 10, Y-linked pseudogene pseudogene Approved Yp11.2 Yp11.2 2010-06-28 2014-11-19 100419727 ENSG00000216824 OTTHUMG00000041275 NG_024764 PGOHUM00000233694 HGNC:38410 +HGNC:38426 ZNF736P11Y zinc finger protein 736 pseudogene 11, Y-linked pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-06-28 2014-11-19 100419730 ENSG00000215537 OTTHUMG00000043857 NG_024779 PGOHUM00000233821 HGNC:38426 +HGNC:38431 ZNF736P12Y zinc finger protein 736 pseudogene 12, Y-linked pseudogene pseudogene Approved Yq11.23 Yq11.23 2010-06-28 2014-11-19 100419731 ENSG00000232003 OTTHUMG00000045107 NG_024785 PGOHUM00000233853 HGNC:38431 +HGNC:32468 ZNF737 zinc finger protein 737 protein-coding gene gene with protein product Approved 19p12 19p12 ZNF102 Zinc fingers C2H2-type 28 2007-05-31 2021-04-27 100129842 ENSG00000237440 OTTHUMG00000179732 uc002npa.4 BC015765 NM_145289 CCDS54238 O75373 603984 HGNC:32468 "ENST00000427401.9|NM_001159293.2" +HGNC:32469 ZNF738 zinc finger protein 738 protein-coding gene gene with protein product Approved 19p12 19p12 2006-08-18 2021-04-27 148203 ENSG00000172687 OTTHUMG00000141298 uc002nps.5 BC034499 NM_001355237 "CCDS86733|CCDS86732" Q8NE65 RGD:1594209 HGNC:32469 "ENST00000683779.1|NM_001355237.2" +HGNC:27465 ZNF740 zinc finger protein 740 protein-coding gene gene with protein product Approved 12q13.13 12q13.13 Zfp740 Zinc fingers C2H2-type 28 2006-01-27 2019-08-20 283337 ENSG00000139651 OTTHUMG00000170027 uc001scb.5 BC053557 NM_001004304 CCDS44896 Q8NDX6 MGI:1915994 RGD:1589052 HGNC:27465 "ENST00000416904.5|NM_001004304.4" +HGNC:21948 ZNF746 zinc finger protein 746 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 "FLJ31413|PARIS" parkin interacting substrate Zinc fingers C2H2-type 28 2006-03-20 2021-04-27 155061 ENSG00000181220 OTTHUMG00000158972 uc003wfw.3 AK055975 NM_152557 "CCDS5897|CCDS55180|CCDS87562" Q6NUN9 21376232 MGI:1916478 RGD:1306209 613914 HGNC:21948 "ENST00000458143.7|NM_001394198.1" +HGNC:28350 ZNF747 zinc finger protein 747 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC2474 Zinc fingers C2H2-type 28 2006-03-24 2021-04-27 65988 ENSG00000169955 OTTHUMG00000132401 uc059tfj.1 BC001361 NM_023931 "CCDS76855|CCDS10682|CCDS76856" Q9BV97 10493829 HGNC:28350 "ENST00000693075.1|NM_001305018.2" +HGNC:55668 ZNF747-DT ZNF747 divergent transcript non-coding RNA RNA, long non-coding Approved 16p11.2 16p11.2 AC002310.12 Divergent transcripts 1990 2021-06-30 2021-12-03 107984875 ENSG00000235560 XR_001752116 +HGNC:32783 ZNF749 zinc finger protein 749 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ16360 Zinc fingers C2H2-type 28 2006-05-10 2021-04-27 388567 ENSG00000186230 OTTHUMG00000150372 uc002qoq.3 AK122740 NM_001023561 CCDS33132 O43361 HGNC:32783 "ENST00000334181.5|NM_001023561.4" +HGNC:25843 ZNF750 zinc finger protein 750 protein-coding gene gene with protein product Approved 17q25.3 17q25.3 "FLJ13841|Zfp750" 2006-06-07 2019-08-20 79755 ENSG00000141579 OTTHUMG00000177822 uc002kga.4 AK023903 NM_024702 CCDS11819 Q32MQ0 16751772 MGI:2442210 RGD:1590044 610226 173226 HGNC:25843 "ENST00000269394.4|NM_024702.3" HGNC:25843 +HGNC:23179 ZNF761 zinc finger protein 761 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 "KIAA2033|FLJ16231|FLJ35333" Zinc fingers C2H2-type 28 2006-06-30 2006-08-11 2006-08-11 2021-04-27 388561 ENSG00000160336 OTTHUMG00000156999 uc032icc.1 AB107355 NM_001008401 CCDS77353 Q86XN6 RGD:1560046 HGNC:23179 "ENST00000684525.1|NM_001289951.2" +HGNC:27614 ZNF763 zinc finger protein 763 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 ZNF440L Zinc fingers C2H2-type 28 2006-08-14 2006-08-14 2021-04-27 284390 ENSG00000197054 OTTHUMG00000156430 uc002msv.4 AK092240 NM_001012753 CCDS45982 Q0D2J5 HGNC:27614 "ENST00000358987.8|NM_001367172.2" +HGNC:28200 ZNF764 zinc finger protein 764 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC13138 Zinc fingers C2H2-type 28 2006-08-14 2021-04-27 92595 ENSG00000169951 OTTHUMG00000132406 uc002dyq.4 BC008821 NM_033410 "CCDS10683|CCDS54001" Q96H86 22577170 MGI:2443580 RGD:7540019 619524 HGNC:28200 "ENST00000395091.3|NM_001172679.2" +HGNC:25092 ZNF765 zinc finger protein 765 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Zinc fingers C2H2-type 28 2006-08-14 2021-04-27 91661 ENSG00000196417 OTTHUMG00000163079 uc002qbm.4 BC017357 NM_138372 CCDS46171 Q7L2R6 12477932 RGD:7708183 HGNC:25092 "ENST00000396408.8|NM_001040185.3" +HGNC:28063 ZNF766 zinc finger protein 766 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 "Zinc fingers C2H2-type|MicroRNA protein coding host genes" "28|1691" 2006-08-14 2021-04-27 90321 ENSG00000196214 OTTHUMG00000182629 uc002pyr.2 AK024074 NM_001010851 CCDS46163 Q5HY98 HGNC:28063 "ENST00000439461.6|NM_001010851.3" +HGNC:21884 ZNF767P zinc finger family member 767, pseudogene pseudogene pseudogene Approved 7q36.1 07q36.1 FLJ12700 ZNF767 zinc finger family member 767 Zinc fingers C2H2-type 28 2006-08-14 2014-03-20 2014-03-20 2021-04-27 79970 ENSG00000133624 OTTHUMG00000158976 AK022762 NR_027788 Q75MW2 HGNC:21884 +HGNC:26273 ZNF768 zinc finger protein 768 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ23436 Zinc fingers C2H2-type 28 2006-08-14 2021-04-27 79724 ENSG00000169957 OTTHUMG00000132392 uc002dyk.4 BC013760 NM_024671 CCDS10681 Q9H5H4 25875936 MGI:2384582 RGD:7609558 618032 HGNC:26273 "ENST00000380412.7|NM_024671.4" +HGNC:26061 ZNF770 zinc finger protein 770 protein-coding gene gene with protein product Approved 15q14 15q14 "FLJ20582|PRO1914" Zinc fingers C2H2-type 28 2006-08-14 2021-04-27 54989 ENSG00000198146 OTTHUMG00000129689 uc001ziw.4 BC071603 NM_014106 CCDS10042 Q6IQ21 MGI:2445100 RGD:1597283 HGNC:26061 "ENST00000356321.4|NM_014106.4" +HGNC:29653 ZNF771 zinc finger protein 771 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 DSC43 Zinc fingers C2H2-type 28 2006-08-14 2021-04-27 51333 ENSG00000179965 OTTHUMG00000176985 uc002dyd.4 BC026192 NM_016643 CCDS45460 Q7L3S4 12477932 MGI:2442050 RGD:1305903 HGNC:29653 "ENST00000319296.10|NM_001142305.2" +HGNC:33106 ZNF772 zinc finger protein 772 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 DKFZp686I1569 Zinc fingers C2H2-type 28 2006-08-14 2021-04-27 400720 ENSG00000197128 OTTHUMG00000168007 uc002qot.3 BX647068 NM_001024596 "CCDS33133|CCDS82406|CCDS46210" Q68DY9 HGNC:33106 "ENST00000356584.8|NM_001144068.2" +HGNC:30487 ZNF773 zinc finger protein 773 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC4728 ZNF419B zinc finger protein 419B Zinc fingers C2H2-type 28 2006-08-15 2006-12-15 2006-12-15 2021-04-27 374928 ENSG00000152439 OTTHUMG00000183403 uc002qox.4 BC005167 NM_198542 "CCDS77368|CCDS33134|CCDS77369" Q6PK81 12477932 "MGI:1917764|MGI:2385265" RGD:1308782 HGNC:30487 "ENST00000282292.9|NM_198542.3" +HGNC:33108 ZNF774 zinc finger protein 774 protein-coding gene gene with protein product Approved 15q26.1 15q26.1 MGC75360 Zinc fingers C2H2-type 28 2006-08-15 2021-04-27 342132 ENSG00000196391 OTTHUMG00000172359 uc002bpk.5 BC067279 NM_001004309 CCDS32330 Q6NX45 HGNC:33108 "ENST00000354377.8|NM_001004309.3" +HGNC:28501 ZNF775 zinc finger protein 775 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 MGC33584 Zinc fingers C2H2-type 28 2006-08-15 2021-04-27 285971 ENSG00000196456 OTTHUMG00000191597 uc003whf.2 BC038111 NM_173680 CCDS43678 Q96BV0 12477932 MGI:2683557 RGD:1304910 HGNC:28501 "ENST00000329630.10|NM_173680.4" +HGNC:41202 ZNF775-AS1 ZNF775 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 7q36.1 07q36.1 Antisense RNAs 1987 2020-04-16 2020-04-16 105375564 ENSG00000239377 OTTHUMG00000158329 XR_928160 +HGNC:26765 ZNF776 zinc finger protein 776 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ38288 Zinc fingers C2H2-type 28 2006-08-15 2021-04-27 284309 ENSG00000152443 OTTHUMG00000156943 uc002qqa.3 AK095607 NM_173632 CCDS12962 Q68DI1 HGNC:26765 "ENST00000317178.10|NM_173632.4" +HGNC:22213 ZNF777 zinc finger protein 777 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 KIAA1285 Zinc fingers C2H2-type 28 2006-08-15 2021-04-27 27153 ENSG00000196453 OTTHUMG00000158967 uc003wfv.4 AB033111 NM_015694 CCDS43675 Q9ULD5 MGI:1919556 RGD:1566056 619298 HGNC:22213 "ENST00000247930.5|NM_015694.3" +HGNC:26479 ZNF778 zinc finger protein 778 protein-coding gene gene with protein product Approved 16q24.3 16q24.3 FLJ31875 Zinc fingers C2H2-type 28 2006-08-15 2021-04-27 197320 ENSG00000170100 OTTHUMG00000175526 uc002fmv.4 AK056437 NM_182531 "CCDS45550|CCDS73928" Q96MU6 "MGI:99173|MGI:1915280|MGI:1920701" RGD:1565847 LRG_284|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_284.xml HGNC:26479 "ENST00000433976.7|NM_001201407.2" +HGNC:56034 ZNF778-DT ZNF778 divergent transcript non-coding RNA RNA, long non-coding Approved 16q24.3 16q24.3 RP5-821D11.7 Divergent transcripts 1990 2021-12-06 2022-01-05 123706547 ENSG00000259877 34952030 +HGNC:27603 ZNF780A zinc finger protein 780A protein-coding gene gene with protein product Approved 19q13.2 19q13.2 ZNF780 Zinc fingers C2H2-type 28 2006-08-15 2006-08-15 2021-04-27 284323 ENSG00000197782 OTTHUMG00000155119 uc002omy.4 AK091274 NM_001010880 "CCDS46079|CCDS46078|CCDS33026" O75290 "MGI:99206|MGI:1918413|MGI:2148237|MGI:2444764|MGI:3036281|MGI:3584526" HGNC:27603 "ENST00000683561.1|NM_001142578.2" +HGNC:33109 ZNF780B zinc finger protein 780B protein-coding gene gene with protein product Approved 19q13.2 19q13.2 ZNF779 zinc finger protein 779 Zinc fingers C2H2-type 28 2006-08-15 2006-08-15 2021-04-27 163131 ENSG00000128000 OTTHUMG00000155118 uc060yoj.1 AK127063 NM_001005851 CCDS46077 Q9Y6R6 "MGI:1920680|MGI:2444764" RGD:6500398 HGNC:33109 "ENST00000434248.6|NM_001005851.3" +HGNC:26745 ZNF781 zinc finger protein 781 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 FLJ37549 Zinc fingers C2H2-type 28 2006-08-15 2021-04-27 163115 ENSG00000196381 OTTHUMG00000182106 uc002ogy.3 AK097019 NM_152605 CCDS12507 Q8N8C0 MGI:2444324 HGNC:26745 "ENST00000358582.9|NM_152605.4" +HGNC:33110 ZNF782 zinc finger protein 782 protein-coding gene gene with protein product Approved 9q22.33 09q22.33 FLJ16636 Zinc fingers C2H2-type 28 2006-08-16 2021-04-27 158431 ENSG00000196597 OTTHUMG00000020310 uc004awp.2 AK131468 NM_001001662 CCDS35075 Q6ZMW2 MGI:3652255 HGNC:33110 "ENST00000481138.6|NM_001001662.3" +HGNC:27222 ZNF783 zinc finger protein 783 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 DKFZp667J212 zinc finger family member 783 Zinc fingers C2H2-type 28 2006-08-16 2021-08-10 2021-08-10 100289678 ENSG00000204946 OTTHUMG00000158969 uc011kuo.3 AK131504 NM_001195220 CCDS56519 Q6ZMS7 "8619474|9110174" RGD:6488348 HGNC:27222 "ENST00000434415.6|NM_001195220.2" +HGNC:33111 ZNF784 zinc finger protein 784 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 MGC75238 Zinc fingers C2H2-type 28 2006-08-16 2021-04-27 147808 ENSG00000179922 OTTHUMG00000180860 uc002qll.2 AK074859 NM_203374 CCDS12930 Q8NCA9 MGI:3606042 RGD:1565545 HGNC:33111 "ENST00000325351.5|NM_203374.2" +HGNC:26496 ZNF785 zinc finger protein 785 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 FLJ32130 Zinc fingers C2H2-type 28 2006-08-16 2021-04-27 146540 ENSG00000197162 OTTHUMG00000176950 uc002dyw.3 BC040642 NM_152458 CCDS10685 A8K8V0 10493829 RGD:7511312 HGNC:26496 "ENST00000395216.3|NM_152458.7" +HGNC:21806 ZNF786 zinc finger protein 786 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 DKFZp762I137 Zinc fingers C2H2-type 28 2006-08-16 2021-04-27 136051 ENSG00000197362 OTTHUMG00000158975 uc003wfh.3 "AK095701|AL834510" NM_152411 CCDS47738 Q8N393 MGI:3026883 RGD:2293500 HGNC:21806 "ENST00000491431.2|NM_152411.4" +HGNC:26998 ZNF787 zinc finger protein 787 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2006-08-16 2021-04-27 126208 ENSG00000142409 OTTHUMG00000181760 uc032igd.1 "BC077728|AF000560" NM_001002836 "CCDS42634|CCDS86810" Q6DD87 MGI:1914359 RGD:1310536 HGNC:26998 "ENST00000610935.2|NM_001002836.4" +HGNC:33112 ZNF788P zinc finger family member 788, pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 FLJ46419 ZNF788 zinc finger family member 788 Zinc fingers C2H2-type 28 2006-08-16 2018-02-01 2018-02-01 2021-04-27 388507 ENSG00000214189 OTTHUMG00000156416 uc060txj.1 AI566055 XM_930581 Q6ZQV5 RGD:727944 HGNC:33112 +HGNC:27801 ZNF789 zinc finger protein 789 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 Zinc fingers C2H2-type 28 2006-08-17 2021-04-27 285989 ENSG00000198556 OTTHUMG00000154601 uc003uqq.2 AK093141 NM_213603 "CCDS34693|CCDS34694" Q5FWF6 12477932 HGNC:27801 "ENST00000331410.10|NM_213603.3" +HGNC:33114 ZNF790 zinc finger protein 790 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 "MGC62100|FLJ20350" Zinc fingers C2H2-type 28 2006-08-17 2021-04-27 388536 ENSG00000197863 OTTHUMG00000165616 uc021utm.1 BC057245 NM_206894 CCDS12496 Q6PG37 MGI:1923431 RGD:1309815 HGNC:33114 "ENST00000356725.9|NM_206894.4" +HGNC:27617 ZNF790-AS1 ZNF790 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 ZNF790 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2012-06-23 2012-08-15 2012-10-12 284408 ENSG00000267254 OTTHUMG00000180904 uc002oev.3 NR_040027 ZNF790-AS1 HGNC:27617 +HGNC:26895 ZNF791 zinc finger protein 791 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 FLJ90396 Zinc fingers C2H2-type 28 2006-08-17 2021-04-27 163049 ENSG00000173875 OTTHUMG00000156426 uc002mua.3 AK074877 NM_153358 CCDS12273 Q3KP31 MGI:3648473 RGD:2323544 HGNC:26895 "ENST00000343325.9|NM_153358.3" +HGNC:24751 ZNF792 zinc finger protein 792 protein-coding gene gene with protein product Approved 19q13.11 19q13.11 FLJ38451 Zinc fingers C2H2-type 28 2006-08-17 2021-04-27 126375 ENSG00000180884 OTTHUMG00000150339 uc002nxh.1 AK095770 NM_175872 CCDS12440 Q3KQV3 8889548 HGNC:24751 "ENST00000404801.2|NM_175872.5" +HGNC:33115 ZNF793 zinc finger protein 793 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 Zinc fingers C2H2-type 28 2006-08-17 2021-04-27 390927 ENSG00000188227 OTTHUMG00000182003 uc010xts.3 AK131417 NM_001013659 CCDS46062 Q6ZN11 HGNC:33115 "ENST00000627814.3|NM_001013659.3" +HGNC:51303 ZNF793-AS1 ZNF793 antisense RNA 1 (head to head) non-coding RNA RNA, long non-coding Approved 19q13.12 19q13.12 Antisense RNAs 1987 2014-09-26 2014-09-26 101927720 ENSG00000266916 OTTHUMG00000181988 NR_110723 ZNF793-AS1 HGNC:51303 +HGNC:28071 ZNF799 zinc finger protein 799 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 "HIT-40|MGC71805" ZNF842 zinc finger protein 842 Zinc fingers C2H2-type 28 2006-08-21 2021-04-27 90576 ENSG00000196466 OTTHUMG00000156408 uc010dyt.4 BC009517 NM_001080821 "CCDS45989|CCDS82297" Q96GE5 "MGI:2682944|MGI:3646490|MGI:4867078" RGD:1359692 HGNC:28071 "ENST00000430385.3|NM_001080821.3" HGNC:28071 +HGNC:27267 ZNF800 zinc finger protein 800 protein-coding gene gene with protein product Approved 7q31.33 07q31.33 Zinc fingers C2H2-type 28 2006-08-21 2015-09-10 168850 ENSG00000048405 OTTHUMG00000023456 uc064hro.1 AF218032 NM_176814 CCDS5795 Q2TB10 12477932 MGI:1889334 RGD:1560157 HGNC:27267 "ENST00000265827.8|NM_176814.5" +HGNC:21711 ZNF804A zinc finger protein 804A protein-coding gene gene with protein product Approved 2q32.1 02q32.1 C2orf10 Zinc fingers C2H2-type 28 2004-11-30 2006-10-27 2006-10-27 2014-11-18 91752 ENSG00000170396 OTTHUMG00000132625 uc002uph.4 AF052145 NM_194250 CCDS2291 Q7Z570 12970790 MGI:2442949 RGD:1305239 612282 HGNC:21711 "ENST00000302277.7|NM_194250.2" HGNC:21711 +HGNC:21958 ZNF804B zinc finger protein 804B protein-coding gene gene with protein product Approved 7q21.13 07q21.13 FLJ32110 zinc finger 804B Zinc fingers C2H2-type 28 2006-10-27 2006-12-18 2015-09-10 219578 ENSG00000182348 OTTHUMG00000131037 uc011khi.3 AK056672 NM_181646 CCDS5613 A4D1E1 MGI:2685287 RGD:1589640 HGNC:21958 "ENST00000333190.5|NM_181646.5" +HGNC:23272 ZNF805 zinc finger protein 805 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2006-12-15 2021-04-27 390980 ENSG00000204524 OTTHUMG00000183219 uc010ygt.3 AF024708 NM_001023563 "CCDS46208|CCDS46207" Q5CZA5 HGNC:23272 "ENST00000414468.3|NM_001023563.4" +HGNC:33229 ZNF807P zinc finger protein 807, pseudogene pseudogene pseudogene Approved 19q13.11 19q13.11 ZNF181P1 ZNF807 zinc finger protein 807 Zinc fingers C2H2-type 28 2006-12-21 2019-06-28 2019-06-28 2021-04-27 100129800 ENSG00000248830 OTTHUMG00000158178 NR_146880 HGNC:33229 +HGNC:33230 ZNF808 zinc finger protein 808 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 Zinc fingers C2H2-type 28 2006-12-21 2021-04-27 388558 ENSG00000198482 OTTHUMG00000158230 uc010epq.2 CR749856 NM_001039886 "CCDS46167|CCDS86799" Q8N4W9 MGI:3651014 HGNC:33230 "ENST00000359798.9|NM_001039886.4" +HGNC:33242 ZNF812P zinc finger protein 812, pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 ZNF812 zinc finger protein 812 Zinc fingers C2H2-type 28 2007-01-05 2015-11-03 2015-11-03 2021-04-27 729648 ENSG00000224689 OTTHUMG00000167867 uc060tbh.1 NR_146444 RGD:1308643 HGNC:33242 +HGNC:33257 ZNF813 zinc finger protein 813 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 FLJ16542 Zinc fingers C2H2-type 28 2007-01-18 2021-04-27 126017 ENSG00000198346 OTTHUMG00000158309 uc002qbu.3 AK091460 NM_001004301 CCDS46172 Q6ZN06 HGNC:33257 "ENST00000396403.9|NM_001004301.4" +HGNC:33258 ZNF814 zinc finger protein 814 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2007-01-18 2021-04-27 730051 ENSG00000204514 OTTHUMG00000183519 uc061dny.1 NM_001144989 CCDS46212 B7Z6K7 MGI:99173 HGNC:33258 "ENST00000435989.7|NM_001144989.2" +HGNC:22029 ZNF815P zinc finger protein 815, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 FLJ38969 ZNF815 zinc finger protein 815 2007-01-18 2012-04-20 2012-04-20 2021-04-27 401303 ENSG00000235944 OTTHUMG00000155501 AK096288 NR_023382 A8K554 PGOHUM00000302512 HGNC:22029 +HGNC:26995 ZNF816 zinc finger protein 816 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 ZNF816A zinc finger protein 816A Zinc fingers C2H2-type 28 2007-01-18 2010-07-23 2010-07-23 2021-04-27 125893 ENSG00000180257 OTTHUMG00000167761 uc002qal.3 BC063805 NM_001031665 CCDS33096 Q0VGE8 RGD:1597345 HGNC:26995 "ENST00000444460.7|NM_001202457.3" +HGNC:38879 ZNF816-ZNF321P ZNF816-ZNF321P readthrough other readthrough Approved 19q13.41 19q13.41 ZNF816-ZNF321 ZNF816-ZNF321 readthrough 2010-09-15 2011-04-19 2011-04-19 2015-08-25 100529240 ENSG00000221874 OTTHUMG00000167759 uc010eqj.4 AK316503 NM_001202473 CCDS56101 HGNC:38879 +HGNC:33265 ZNF818P zinc finger protein 818, pseudogene pseudogene pseudogene Approved 19q13.42 19q13.42 FLJ46385 ZNF818 "zinc finger protein 818|zinc finger protein 818 pseudogene|zinc finger protein 818 (pseudogene)" 2007-01-19 2008-07-03 2010-08-03 2021-06-30 390963 ENSG00000269001 AK128250 XR_040819 Q6ZRF7 PGOHUM00000295440 HGNC:33265 +HGNC:28043 ZNF821 zinc finger protein 821 protein-coding gene gene with protein product Approved 16q22.2 16q22.2 Zinc fingers C2H2-type 28 2007-11-20 2015-07-22 55565 ENSG00000102984 OTTHUMG00000176874 uc021tlb.1 AF070588 NM_017530 "CCDS73911|CCDS56006|CCDS32481" O75541 "8619474|9110174" MGI:1923121 RGD:1306674 HGNC:28043 "ENST00000425432.6|NM_001201552.2" +HGNC:30936 ZNF823 zinc finger protein 823 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 HSZFP36 ZFP 36 for a zinc finger protein Zinc fingers C2H2-type 28 2008-01-18 2021-04-27 55552 ENSG00000197933 OTTHUMG00000156528 uc002msm.3 X51760 NM_001080493 CCDS45981 P16415 "MGI:2682944|MGI:3646490|MGI:4867078" HGNC:30936 "ENST00000341191.11|NM_001080493.4" +HGNC:33875 ZNF826P zinc finger protein 826, pseudogene pseudogene pseudogene Approved 19p12 19p12 FLJ44894 ZNF826 zinc finger protein 826 2008-02-01 2010-08-03 2010-08-03 2021-10-07 664701 ENSG00000231205 OTTHUMG00000162773 BC016785 NR_036455 Q6ZT77 HGNC:33875 +HGNC:27193 ZNF827 zinc finger protein 827 protein-coding gene gene with protein product Approved 4q31.21-q31.22 04q31.21-q31.22 Zinc fingers C2H2-type 28 2008-03-25 2018-02-13 152485 ENSG00000151612 OTTHUMG00000161362 uc003ikm.4 AK091130 NM_178835 "CCDS77968|CCDS34072" Q17R98 25150861 MGI:2444807 RGD:1560620 617962 HGNC:27193 "ENST00000508784.6|NM_001306215.2" +HGNC:34032 ZNF829 zinc finger protein 829 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 DKFZp779O175 Zinc fingers C2H2-type 28 2008-03-25 2021-04-27 374899 ENSG00000185869 OTTHUMG00000048161 uc002ofa.3 BC107131 NM_001037232 "CCDS59380|CCDS42557" Q3KNS6 HGNC:34032 "ENST00000391711.8|NM_001037232.4" +HGNC:28291 ZNF830 zinc finger protein 830 protein-coding gene gene with protein product Approved 17q12 17q12 "MGC20398|OMCG1" orphan maintenance of genome 1 CCDC16 coiled-coil domain containing 16 "Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex" "1508|1510|1516" 2005-04-03 2008-03-25 2008-03-25 2014-11-19 91603 ENSG00000198783 OTTHUMG00000179771 uc002hih.5 AK055707 NM_052857 CCDS32618 Q96NB3 23066043 MGI:1914233 RGD:1562573 HGNC:28291 "ENST00000361952.5|NM_052857.4" +HGNC:16167 ZNF831 zinc finger protein 831 protein-coding gene gene with protein product Approved 20q13.32 20q13.32 dJ492J12.1 C20orf174 chromosome 20 open reading frame 174 Zinc fingers C2H2-type 28 2001-07-17 2008-03-25 2008-03-25 2015-08-26 128611 ENSG00000124203 OTTHUMG00000032864 uc002yan.4 AL121919 NM_178457 CCDS42894 Q5JPB2 MGI:3641861 RGD:1565819 HGNC:16167 "ENST00000371030.4|NM_178457.3" +HGNC:33819 ZNF833P zinc finger protein 833, pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 ZNF833 zinc finger protein 833 2008-06-12 2010-08-03 2010-08-03 2021-10-07 401898 ENSG00000267343 OTTHUMG00000182038 BC137336 NR_028594 Q6ZTB9 HGNC:33819 +HGNC:34332 ZNF835 zinc finger protein 835 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 BC37295_3 Zinc fingers C2H2-type 28 2008-06-12 2021-04-27 90485 ENSG00000127903 OTTHUMG00000182158 uc010ygn.3 AK023017 NM_001005850 CCDS56105 Q9Y2P0 HGNC:34332 "ENST00000537055.4|NM_001005850.3" +HGNC:34333 ZNF836 zinc finger protein 836 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 FLJ16287 Zinc fingers C2H2-type 28 2008-06-12 2021-04-27 162962 ENSG00000196267 OTTHUMG00000182567 uc010ydi.3 BC011784 NM_001102657 CCDS46162 Q6ZNA1 MGI:108187 HGNC:34333 "ENST00000682614.1|NM_001102657.3" +HGNC:25164 ZNF837 zinc finger protein 837 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Zinc fingers C2H2-type 28 2008-06-12 2021-04-27 116412 ENSG00000152475 OTTHUMG00000183517 uc002qsl.5 BC012365 NM_138466 CCDS46216 Q96EG3 12477932 RGD:9203794 HGNC:25164 "ENST00000597582.2|NM_138466.2" +HGNC:20345 ZNF839 zinc finger protein 839 protein-coding gene gene with protein product Approved 14q32.31 14q32.31 C14orf131 chromosome 14 open reading frame 131 2003-01-28 2008-06-23 2008-06-23 2016-10-05 55778 ENSG00000022976 OTTHUMG00000171864 uc010awk.3 AK093342 NM_018335 "CCDS45164|CCDS58336" A8K0R7 MGI:1920055 RGD:1562557 HGNC:20345 "ENST00000442396.7|NM_018335.6" +HGNC:38455 ZNF839P1 zinc finger protein 839 pseudogene 1 pseudogene pseudogene Approved Yq11.222 Yq11.222 2010-05-06 2014-11-19 100419733 ENSG00000217896 OTTHUMG00000036499 NG_021945 PGOHUM00000262160 HGNC:38455 +HGNC:34344 ZNF840P zinc finger protein 840, pseudogene pseudogene pseudogene Approved 20q13.12 20q13.12 dJ981L23.3 "C20orf157|ZNF840" "chromosome 20 open reading frame 157|zinc finger protein 840" 2008-06-23 2014-10-10 2014-10-10 2021-04-27 100533646 ENSG00000184617 OTTHUMG00000032647 NG_028901 A6NDX5 PGOHUM00000297130 HGNC:34344 +HGNC:27611 ZNF841 zinc finger protein 841 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 LOC284371 Zinc fingers C2H2-type 28 2008-06-23 2021-04-27 284371 ENSG00000197608 OTTHUMG00000182558 uc061cbg.1 AK131409 NM_001352298 "CCDS82388|CCDS46161" Q6ZN19 HGNC:27611 "ENST00000594440.6|NM_001136499.2" +HGNC:28710 ZNF843 zinc finger protein 843 protein-coding gene gene with protein product Approved 16p11.2 16p11.2 MGC46336 Zinc fingers C2H2-type 28 2008-07-04 2021-04-27 283933 ENSG00000176723 OTTHUMG00000176616 uc059tnf.1 BC036762 NM_001136509 CCDS45471 Q8N446 12477932 HGNC:28710 "ENST00000315678.10|NM_001136509.3" +HGNC:25932 ZNF844 zinc finger protein 844 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 FLJ14959 Zinc fingers C2H2-type 28 2008-07-04 2021-04-27 284391 ENSG00000223547 OTTHUMG00000156405 uc002mtb.3 AL832297 NM_001136501 CCDS45985 Q08AG5 "MGI:1914119|MGI:2142546|MGI:3584369|MGI:3646490|MGI:4867078" RGD:1642422 HGNC:25932 "ENST00000439326.8|NM_001136501.3" +HGNC:25112 ZNF845 zinc finger protein 845 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Zinc fingers C2H2-type 28 2008-07-04 2021-04-27 91664 ENSG00000213799 OTTHUMG00000182920 uc010ydv.1 BC007307 NM_001321524 CCDS46170 Q96IR2 MGI:3651014 RGD:2322273 HGNC:25112 "ENST00000458035.3|NM_138374.3" +HGNC:27260 ZNF846 zinc finger protein 846 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zinc fingers C2H2-type 28 2008-07-04 2021-04-27 162993 ENSG00000196605 OTTHUMG00000180208 uc002mmb.2 AK097652 NM_001077624 CCDS42496 Q147U1 HGNC:27260 +HGNC:34384 ZNF847P zinc finger protein 847, pseudogene pseudogene pseudogene Approved 1q42.13 01q42.13 gm127 "zinc finger protein 847 pseudogene|zinc finger protein 847 (pseudogene)" 2008-07-04 2010-08-03 2021-04-27 401983 ENSG00000215812 OTTHUMG00000037696 NR_036753 HGNC:34384 +HGNC:34387 ZNF848P zinc finger protein 848, pseudogene pseudogene pseudogene Approved 17q24.1 17q24.1 "zinc finger protein 848 pseudogene|zinc finger protein 848 (pseudogene)" 2008-07-04 2010-08-03 2021-04-27 100380945 NG_013021 HGNC:34387 +HGNC:34389 ZNF849P zinc finger protein 849, pseudogene pseudogene pseudogene Approved 19p12 19p12 "zinc finger protein 849 pseudogene|zinc finger protein 849 (pseudogene)" 2008-07-04 2010-08-03 2021-04-27 100130108 ENSG00000198153 OTTHUMG00000182989 XM_001719785 PGOHUM00000295302 HGNC:34389 +HGNC:27994 ZNF850 zinc finger protein 850 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 ZNF850P "zinc finger protein 850 pseudogene|zinc finger protein 850 (pseudogene)" Zinc fingers C2H2-type 28 2008-07-04 2010-08-02 2010-08-02 2021-04-27 342892 ENSG00000267041 OTTHUMG00000180899 uc010efc.4 BC052603 NM_001193552 "CCDS74350|CCDS59379" A8MQ14 12477932 "MGI:99173|MGI:1917477" HGNC:27994 "ENST00000591344.2|NM_001193552.2" +HGNC:27713 ZNF852 zinc finger protein 852 protein-coding gene gene with protein product Approved 3p21.31 03p21.31 Zinc fingers C2H2-type 28 2008-07-04 2021-04-27 285346 ENSG00000178917 OTTHUMG00000156453 uc062iuy.1 BC014381 NM_001287349 Q6ZMS4 MGI:3040678 HGNC:27713 +HGNC:21767 ZNF853 zinc finger protein 853 protein-coding gene gene with protein product Approved 7p22.1 07p22.1 DKFZp434J1015 Zinc fingers C2H2-type 28 2008-07-04 2021-04-27 54753 ENSG00000236609 OTTHUMG00000151853 uc011jwz.3 AL133055 NM_017560 CCDS59048 P0CG23 MGI:2685638 RGD:1563095 HGNC:21767 "ENST00000457543.4|NM_017560.3" +HGNC:34507 ZNF859P zinc finger protein 859, pseudogene pseudogene pseudogene Approved 1p33 01p33 "zinc finger protein 859 pseudogene|zinc finger protein 859 (pseudogene)" 2008-08-06 2010-08-03 2021-04-27 100507490 ENSG00000215887 OTTHUMG00000008273 NG_028931 PGOHUM00000256878 HGNC:34507 +HGNC:34513 ZNF860 zinc finger protein 860 protein-coding gene gene with protein product Approved 3p24.1 03p24.1 Zinc fingers C2H2-type 28 2008-08-11 2021-04-27 344787 ENSG00000197385 OTTHUMG00000155838 uc011axg.3 AK294003 NM_001137674 CCDS46784 A6NHJ4 HGNC:34513 "ENST00000360311.5|NM_001137674.3" +HGNC:34514 ZNF861P zinc finger protein 861, pseudogene pseudogene pseudogene Approved 19p13.12 19p13.12 "zinc finger protein 861 pseudogene|zinc finger protein 861 (pseudogene)" 2008-08-11 2010-08-03 2021-04-27 100302737 ENSG00000267235 OTTHUMG00000182286 NG_023047 O60384 RGD:2318899 PGOHUM00000294896 HGNC:34514 +HGNC:34519 ZNF862 zinc finger protein 862 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 Zinc fingers C2H2-type 28 2008-08-15 2021-04-27 643641 ENSG00000106479 OTTHUMG00000158093 uc010lpn.4 AB011115 NM_001099220 CCDS47741 O60290 RGD:1598054 HGNC:34519 "ENST00000223210.5|NM_001099220.3" +HGNC:35156 ZNF863P zinc finger protein 863, pseudogene pseudogene pseudogene Approved 2p16.3 02p16.3 2008-09-26 2010-08-03 2021-04-27 100419682 ENSG00000236538 OTTHUMG00000151841 NG_023689 HGNC:35156 +HGNC:38705 ZNF865 zinc finger protein 865 protein-coding gene gene with protein product Approved 19q13.42 19q13.42 Zinc fingers C2H2-type 28 2010-07-29 2021-04-27 100507290 ENSG00000261221 OTTHUMG00000177108 uc061dbu.1 NM_001195605 CCDS58681 P0CJ78 MGI:2442656 RGD:6494165 HGNC:38705 "ENST00000568956.2|NM_001195605.2" +HGNC:4928 ZNF875 zinc finger protein 875 protein-coding gene gene with protein product Approved 19q13.12 19q13.12 oncogene HKR1 HKR1 "GLI-Kruppel family member HKR1|HKR1, GLI-Kruppel zinc finger family member" Zinc fingers C2H2-type 28 1989-05-29 2019-01-22 2019-01-22 2021-04-27 284459 ENSG00000181666 OTTHUMG00000181937 uc060xtq.1 M20675 NM_181786 "CCDS82337|CCDS86758|CCDS12502|CCDS82339|CCDS82338" P10072 "2850480|9813242" 165250 HGNC:4928 "ENST00000392153.8|NM_001353803.2" +HGNC:32472 ZNF876P zinc finger protein 876, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 2008-06-12 2009-07-22 2010-08-03 2021-04-27 642280 ENSG00000198155 OTTHUMG00000159874 BC028359 NR_027481 Q49A33 PGOHUM00000250744 HGNC:32472 +HGNC:38697 ZNF877P zinc finger protein 877, pseudogene pseudogene pseudogene Approved 20p11.23 20p11.23 2010-07-29 2021-04-27 100873811 ENSG00000226875 OTTHUMG00000032019 NG_032730 PGOHUM00000247609 HGNC:38697 +HGNC:37246 ZNF878 zinc finger protein 878 protein-coding gene gene with protein product Approved 19p13.2 19p13.2 Zinc fingers C2H2-type 28 2009-09-23 2021-04-27 729747 ENSG00000257446 OTTHUMG00000169370 uc021upl.2 NM_001080404 CCDS45984 C9JN71 RGD:2311392 HGNC:37246 "ENST00000547628.2|NM_001080404.3" +HGNC:37273 ZNF879 zinc finger protein 879 protein-coding gene gene with protein product Approved 5q35.3 05q35.3 DKFZp686E2433 Zinc fingers C2H2-type 28 2009-09-25 2021-04-27 345462 ENSG00000234284 OTTHUMG00000163596 uc003mjt.5 AK300504 NM_001136116 CCDS47352 B4DU55 MGI:3053099 RGD:1563273 HGNC:37273 "ENST00000444149.7|NM_001136116.3" +HGNC:37249 ZNF880 zinc finger protein 880 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 Zinc fingers C2H2-type 28 2009-09-28 2021-04-27 400713 ENSG00000221923 OTTHUMG00000167972 uc002pzc.4 BC058819 NM_001145434 CCDS46164 Q6PDB4 HGNC:37249 "ENST00000422689.3|NM_001145434.2" +HGNC:27271 ZNF883 zinc finger protein 883 other unknown Approved 9q32 09q32 Zinc fingers C2H2-type 28 2010-03-17 2021-08-10 169834 ENSG00000228623 OTTHUMG00000020514 uc064vda.1 AK095843 NM_001101338 CCDS83401 P0CG24 RGD:2322991 HGNC:27271 +HGNC:38421 ZNF884P zinc finger protein 884, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-05-06 2021-04-27 100419729 NG_021920 PGOHUM00000305525 HGNC:38421 +HGNC:38456 ZNF885P zinc finger protein 885, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-05-06 2014-11-19 100419734 ENSG00000228764 OTTHUMG00000036665 NG_021946 PGOHUM00000234005 HGNC:38456 +HGNC:38420 ZNF886P zinc finger protein 886, pseudogene pseudogene pseudogene Approved Yq11.223 Yq11.223 2010-05-06 2021-04-27 100419728 ENSG00000232522 OTTHUMG00000036506 NG_021919 PGOHUM00000233787 HGNC:38420 +HGNC:38700 ZNF887P zinc finger protein 887, pseudogene pseudogene pseudogene Approved 19p13.2 19p13.2 ZNF887 zinc finger protein 887 2010-07-23 2012-04-20 2012-04-20 2021-04-27 100419709 ENSG00000267500 OTTHUMG00000156530 NG_024217 PGOHUM00000295196 HGNC:38700 +HGNC:38695 ZNF888 zinc finger protein 888 protein-coding gene gene with protein product Approved 19q13.41 19q13.41 Zinc fingers C2H2-type 28 2010-07-23 2021-04-27 388559 ENSG00000213793 OTTHUMG00000182819 uc061cgs.1 NM_001310127 CCDS86801 P0CJ79 HGNC:38695 "ENST00000638862.2|NM_001393938.1" +HGNC:56044 ZNF888-AS1 ZNF888 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.41 19q13.41 Antisense RNAs 1987 2021-12-08 2021-12-08 123706511 ENSG00000269646 XR_007067325 +HGNC:38691 ZNF890P zinc finger protein 890, pseudogene pseudogene pseudogene Approved 7p22.1 07p22.1 2010-07-29 2021-04-27 645700 ENSG00000159904 OTTHUMG00000166790 NR_034163 PGOHUM00000302029 HGNC:38691 +HGNC:38709 ZNF891 zinc finger protein 891 protein-coding gene gene with protein product Approved 12q24.33 12q24.33 Zinc fingers C2H2-type 28 2010-07-29 2021-04-27 101060200 ENSG00000214029 OTTHUMG00000167943 uc031qkm.2 NM_001277291 CCDS59238 A8MT65 HGNC:38709 "ENST00000537226.3|NM_001277291.2" +HGNC:39250 ZNF962P zinc finger protein 962, pseudogene pseudogene pseudogene Approved 13q11 13q11 2010-11-24 2014-11-19 729501 ENSG00000215604 OTTHUMG00000016450 NG_023215 HGNC:39250 +HGNC:42025 ZNF965P zinc finger protein 965, pseudogene pseudogene pseudogene Approved 13q11 13q11 2011-06-01 2011-06-01 100132598 ENSG00000227784 OTTHUMG00000016464 NG_021967 PGOHUM00000248503 HGNC:42025 +HGNC:44091 ZNF968P zinc finger protein 968, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 2012-06-22 2015-10-30 100419756 NG_025794 PGOHUM00000301289 HGNC:44091 +HGNC:44211 ZNF969P zinc finger protein 969, pseudogene pseudogene pseudogene Approved 4q25 04q25 2012-07-09 2021-04-27 100130995 ENSG00000251046 OTTHUMG00000161373 NG_028847 PGOHUM00000300322 HGNC:44211 +HGNC:44511 ZNF970P zinc finger protein 970, pseudogene pseudogene pseudogene Approved 12q11 12q11 2015-05-20 2021-04-27 105369729 ENSG00000258368 OTTHUMG00000169295 NG_042161 PGOHUM00000291622 HGNC:44511 +HGNC:51848 ZNF971P zinc finger protein 971, pseudogene pseudogene pseudogene Approved 16p11.1 16p11.1 2015-08-26 2015-08-26 2021-04-27 100419895 ENSG00000214581 OTTHUMG00000176003 NG_026366 PGOHUM00000293581 HGNC:51848 +HGNC:29271 ZNFX1 zinc finger NFX1-type containing 1 protein-coding gene gene with protein product Approved 20q13.13 20q13.13 "KIAA1404|FLJ11277" zinc finger, NFX1-type containing 1 UPF1 like RNA helicases 1169 2006-02-17 2016-04-12 2016-04-12 57169 ENSG00000124201 OTTHUMG00000032696 uc002xui.5 AK022641 NM_021035 CCDS13417 Q9P2E3 10718198 MGI:2138982 RGD:1306344 618931 HGNC:29271 "ENST00000396105.6|NM_021035.3" +HGNC:21688 ZNHIT1 zinc finger HIT-type containing 1 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "CG1I|H_DJ0747G18.14" putative cyclin G1 interacting protein ZNFN4A1 "zinc finger protein, subfamily 4A (HIT domain containing), member 1|zinc finger, HIT domain containing 1" "Zinc fingers HIT-type|SRCAP complex" "83|1329" 2003-07-14 2003-08-08 2016-02-12 2016-02-12 10467 ENSG00000106400 OTTHUMG00000157113 uc003uye.4 AF093571 NM_006349 CCDS5716 O43257 MGI:1917353 RGD:2322870 618617 HGNC:21688 "ENST00000305105.3|NM_006349.3" +HGNC:44474 ZNHIT1P1 zinc finger HIT-type containing 1 pseudogene 1 pseudogene pseudogene Approved 8q24.3 08q24.3 2012-11-02 2016-02-12 2016-02-12 100288248 ENSG00000253421 OTTHUMG00000164657 NG_030258 PGOHUM00000249811 HGNC:44474 +HGNC:1177 ZNHIT2 zinc finger HIT-type containing 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 FON C11orf5 "chromosome 11 open reading frame 5|zinc finger, HIT domain containing 2" Zinc fingers HIT-type 83 1998-08-06 2004-07-14 2016-02-12 2020-09-17 741 ENSG00000174276 OTTHUMG00000165604 uc001ocw.4 NM_014205 CCDS8094 Q9UHR6 MGI:1352481 RGD:1307918 604575 HGNC:1177 "ENST00000310597.6|NM_014205.4" +HGNC:12309 ZNHIT3 zinc finger HIT-type containing 3 protein-coding gene gene with protein product Approved 17q12 17q12 Hit1 TRIP3 "thyroid hormone receptor interactor 3|zinc finger, HIT type 3" Zinc fingers HIT-type 83 1999-03-19 2005-09-08 2016-02-12 2020-01-06 9326 ENSG00000273611 OTTHUMG00000188436 uc002hms.3 L40410 NM_004773 "CCDS11312|CCDS62156" Q15649 7776974 MGI:3051596 RGD:1598226 604500 HGNC:12309 "ENST00000617429.5|NM_004773.4" HGNC:12309 +HGNC:26089 ZNHIT6 zinc finger HIT-type containing 6 protein-coding gene gene with protein product Approved 1p22.3 01p22.3 "FLJ20729|NY-BR-75|BCD1" box C/D snoRNA essential 1 homolog (S. cerevisiae) C1orf181 "chromosome 1 open reading frame 181|zinc finger, HIT type 6" Zinc fingers HIT-type 83 2005-07-28 2008-06-23 2016-02-12 2016-02-12 54680 ENSG00000117174 OTTHUMG00000010576 uc001dlh.4 AL442074 NM_017953 "CCDS707|CCDS53338" Q9NWK9 12747765 MGI:1916996 RGD:1308723 HGNC:26089 "ENST00000370574.4|NM_017953.4" +HGNC:54438 ZNNT1 ZNF706 neighboring transcript 1 non-coding RNA RNA, long non-coding Approved 8q22.3 08q22.3 Long non-coding RNAs with non-systematic symbols 1992 2019-09-04 2019-09-04 115830329 ENSG00000261087 NR_164368 31462126 +HGNC:13924 ZNRD1ASP zinc ribbon domain containing 1 antisense, pseudogene pseudogene pseudogene Approved 6p22.1 06p22.1 "HTEX4|Em:AB023056.3|HCGVIII|HCGVIII-1" "C6orf12|NCRNA00171|ZNRD1AS|ZNRD1-AS|ZNRD1-AS1|HCG8" "chromosome 6 open reading frame 12|non-protein coding RNA 171|ZNRD1 antisense RNA (non-protein coding)|ZNRD1 antisense RNA 1 (non-protein coding)|ZNRD1 antisense RNA 1|HLA complex group 8" 2002-11-18 2016-02-22 2016-02-22 2020-08-14 80862 ENSG00000204623 OTTHUMG00000191729 uc011dme.2 AF032110 NR_026751 "9553157|11130983|25110835" MGI:1923666 RGD:1590246 615714 HGNC:13924 +HGNC:11328 ZNRD2 zinc ribbon domain containing 2 protein-coding gene gene with protein product Approved 11q13.1 11q13.1 p27 SSSCA1 "Sjogren's syndrome/scleroderma autoantigen 1|Sjogren syndrome/scleroderma autoantigen 1" 1999-12-15 2019-03-21 2019-03-21 2019-03-21 10534 ENSG00000173465 OTTHUMG00000166388 uc001oek.4 AB001740 NM_006396 "CCDS76434|CCDS8104" O60232 9486406 MGI:1913482 RGD:1593467 606044 HGNC:11328 "ENST00000309328.8|NM_006396.3" +HGNC:27384 ZNRD2-DT ZNRD2 divergent transcript non-coding RNA RNA, long non-coding Approved 11q13.1 11q13.1 "SSSCA1-AS1|ZNRD2-AS1" "SSSCA1 antisense RNA 1 (head to head)|ZNRD2 antisense RNA 1 (head to head)" Divergent transcripts 1990 2013-05-31 2020-12-21 2020-12-21 2020-12-21 254100 ENSG00000260233 OTTHUMG00000166387 NR_038923 SSSCA1-AS1 HGNC:27384 +HGNC:18452 ZNRF1 zinc and ring finger 1 protein-coding gene gene with protein product Approved 16q23.1 16q23.1 "nin283|FLJ14846|DKFZp434E229" zinc and ring finger 1, E3 ubiquitin protein ligase Ring finger proteins 58 2004-07-02 2016-07-28 2022-01-21 84937 ENSG00000186187 OTTHUMG00000137606 uc002fdl.2 AF378524 NM_032268 CCDS10912 Q8ND25 19737534 MGI:2177308 RGD:1592195 612060 6.3.2.- HGNC:18452 "ENST00000335325.9|NM_032268.5" +HGNC:22316 ZNRF2 zinc and ring finger 2 protein-coding gene gene with protein product Approved 7p14.3 07p14.3 RNF202 zinc and ring finger 2, E3 ubiquitin protein ligase "Ring finger proteins|MicroRNA protein coding host genes" "58|1691" 2004-07-29 2016-07-28 2016-10-05 223082 ENSG00000180233 OTTHUMG00000097759 uc003tat.3 AF513707 NM_147128 CCDS5426 Q8NHG8 22797923 MGI:1196246 RGD:1306645 612061 6.3.2.- HGNC:22316 "ENST00000323037.5|NM_147128.4" +HGNC:42792 ZNRF2P1 zinc and ring finger 2 pseudogene 1 pseudogene pseudogene Approved 7p14.3 07p14.3 2011-08-18 2014-11-18 441208 ENSG00000237004 OTTHUMG00000152982 NR_003502 HGNC:42792 +HGNC:42793 ZNRF2P2 zinc and ring finger 2 pseudogene 2 pseudogene pseudogene Approved 7p14.3 07p14.3 2011-08-22 2015-02-02 100271874 ENSG00000225264 OTTHUMG00000152750 NR_027347 PGOHUM00000232633 HGNC:42793 +HGNC:45113 ZNRF2P3 zinc and ring finger 2 pseudogene 3 pseudogene pseudogene Approved 10q22.3 10q22.3 2013-02-15 2013-02-15 100130879 ENSG00000235924 OTTHUMG00000018593 NG_011590 HGNC:45113 +HGNC:18126 ZNRF3 zinc and ring finger 3 protein-coding gene gene with protein product Approved 22q12.1 22q12.1 "KIAA1133|BK747E2.3|FLJ22057|RNF203" Ring finger proteins 58 2004-07-29 2020-04-20 84133 ENSG00000183579 OTTHUMG00000151009 uc021wnq.2 AB051436 NM_001206998 "CCDS42999|CCDS56225" Q9ULT6 10574461 MGI:3039616 RGD:1593771 612062 6.3.2.- HGNC:18126 "ENST00000544604.7|NM_001206998.2" +HGNC:41927 ZNRF3-AS1 ZNRF3 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 ZNRF3 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-19 2012-08-15 2016-11-24 100874123 ENSG00000177993 OTTHUMG00000153511 uc031rxk.1 NR_046851 ZNRF3-AS1 HGNC:41927 +HGNC:41440 ZNRF3-IT1 ZNRF3 intronic transcript 1 non-coding RNA RNA, long non-coding Approved 22q12.1 22q12.1 ZNRF3 intronic transcript 1 (non-protein coding) Intronic transcripts 1989 2011-05-19 2015-02-25 2015-02-25 100874339 ENSG00000235786 OTTHUMG00000151010 uc062cvv.1 ZNRF3-IT1 +HGNC:17726 ZNRF4 zinc and ring finger 4 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 "spzn|Ssrzf1|RNF204" "sperizin|nixin" Ring finger proteins 58 2004-07-29 2016-07-28 148066 ENSG00000105428 OTTHUMG00000180356 uc002mca.5 AK098722 NM_181710 CCDS42475 Q8WWF5 "10191088|21205830" MGI:1341258 RGD:1563631 612063 6.3.2.- HGNC:17726 "ENST00000222033.6|NM_181710.4" +HGNC:13187 ZP1 zona pellucida glycoprotein 1 protein-coding gene gene with protein product Approved 11q12.2 11q12.2 ZPB1 zona pellucida glycoprotein 1 (sperm receptor) Zona pellucida glycoproteins 8 1999-12-10 2015-11-20 2021-11-22 22917 ENSG00000149506 OTTHUMG00000167797 uc001nqd.4 BC067899 NM_207341 CCDS31572 P60852 10542331 MGI:103073 RGD:620604 195000 406889 HGNC:13187 "ENST00000278853.10|NM_207341.4" HGNC:13187 +HGNC:13188 ZP2 zona pellucida glycoprotein 2 protein-coding gene gene with protein product Approved 16p12.3-p12.2 16p12.3-p12.2 ZPA zona pellucida 2 zona pellucida glycoprotein 2 (sperm receptor) Zona pellucida glycoproteins 8 1997-07-01 2016-03-29 2021-11-22 7783 ENSG00000103310 OTTHUMG00000090681 uc002dii.3 M90366 NM_001376231 "CCDS73843|CCDS10596" Q05996 8385033 MGI:99214 RGD:620605 182888 HGNC:13188 "ENST00000574091.6|NM_001376232.1" HGNC:13188 +HGNC:13189 ZP3 zona pellucida glycoprotein 3 protein-coding gene gene with protein product Approved 7q11.23 07q11.23 "ZP3-424|ZP3-372|ZPC" "ZP3A|ZP3B" zona pellucida glycoprotein 3A (sperm receptor) Zona pellucida glycoproteins 8 1991-07-31 2002-09-20 2016-07-28 2021-05-26 7784 ENSG00000188372 OTTHUMG00000130575 uc003ufc.5 M60504 NM_001110354 "CCDS5586|CCDS47618" P21754 1478648 MGI:99215 RGD:620606 182889 HGNC:13189 "ENST00000394857.8|NM_001110354.2" HGNC:13189 +HGNC:50856 ZP3P1 ZP3 pseudogene 1 pseudogene pseudogene Approved 5q14.3 05q14.3 2019-08-28 2019-08-28 100421623 ENSG00000250013 OTTHUMG00000162623 NG_024608 PGOHUM00000235302 HGNC:50856 +HGNC:50857 ZP3P2 ZP3 pseudogene 2 pseudogene pseudogene Approved 7q33 07q33 2019-08-28 2019-08-28 100421642 ENSG00000226066 OTTHUMG00000155635 NG_026628 PGOHUM00000233581 HGNC:50857 +HGNC:15770 ZP4 zona pellucida glycoprotein 4 protein-coding gene gene with protein product Approved 1q43 01q43 "ZPB|ZPB2|ZP1B" Zona pellucida glycoproteins 8 2001-07-04 2021-11-22 57829 ENSG00000116996 OTTHUMG00000039586 uc001hym.3 U05781 NM_021186 CCDS1615 Q12836 7841460 RGD:628708 613514 HGNC:15770 "ENST00000366570.5|NM_021186.5" HGNC:15770 +HGNC:51635 ZPAXP zona pellucida glycoprotein AX, pseudogene pseudogene pseudogene Approved 2p24.2 02p24.2 ZPX1P 2015-03-31 2021-11-22 105373450 NG_052644 "15570621|18046012" HGNC:51635 +HGNC:15662 ZPBP zona pellucida binding protein protein-coding gene gene with protein product Approved 7p12.2 07p12.2 "SP38|ZPBP1" Immunoglobulin like domain containing 594 2001-05-02 2016-10-05 11055 ENSG00000042813 OTTHUMG00000023528 uc003tou.4 D17570 NM_007009 "CCDS5509|CCDS55110" Q9BS86 9378618 MGI:1855701 RGD:1563985 608498 HGNC:15662 "ENST00000046087.7|NM_007009.3" +HGNC:20678 ZPBP2 zona pellucida binding protein 2 protein-coding gene gene with protein product Approved 17q21.1 17q21.1 "ZPBPL|MGC41930" Immunoglobulin like domain containing 594 2004-04-30 2015-08-24 124626 ENSG00000186075 OTTHUMG00000133022 uc002hte.4 BC043152 NM_198844 "CCDS11352|CCDS11353" Q6X784 12883658 MGI:1916626 RGD:1549726 608499 HGNC:20678 "ENST00000348931.9|NM_199321.3" +HGNC:27022 ZPLD1 zona pellucida like domain containing 1 protein-coding gene gene with protein product Approved 3q12.3 03q12.3 2006-01-06 2016-07-05 2016-07-05 131368 ENSG00000170044 OTTHUMG00000159229 uc003dvs.2 AY090780 NM_175056 "CCDS2947|CCDS87115" Q8TCW7 18632209 MGI:2443415 RGD:1308138 615915 HGNC:27022 "ENST00000466937.2|NM_001329788.2" +HGNC:54510 ZPLD2P zona pellucida like domain containing 2, pseudogene pseudogene pseudogene Approved 1p36.11 01p36.11 2019-09-06 2019-09-06 101928303 ENSG00000236155 OTTHUMG00000003384 NR_110698 MGI:3702974 HGNC:54510 +HGNC:13051 ZPR1 ZPR1 zinc finger protein-coding gene gene with protein product Approved 11q23.3 11q23.3 ZNF259 zinc finger protein 259 Zinc fingers 26 1999-02-15 2014-02-20 2014-02-20 2022-03-07 8882 ENSG00000109917 OTTHUMG00000046114 AF019767 NM_003904 CCDS8375 O75312 "8650580|9763455|22422766" MGI:1330262 RGD:1562173 603901 HGNC:13051 "ENST00000227322.8|NM_003904.5" +HGNC:13052 ZPR1P1 ZPR1 pseudogene 1 pseudogene pseudogene Approved 6q21 06q21 354J5 "ZNF259P|ZNF259P1" "zinc finger protein 259, pseudogene|zinc finger protein 259 pseudogene 1" 1999-02-15 2021-03-24 2021-03-24 2021-03-24 442240 ENSG00000219565 OTTHUMG00000016136 Z95118 NG_009460 PGOHUM00000243320 HGNC:13052 +HGNC:18224 ZRANB1 zinc finger RANBP2-type containing 1 protein-coding gene gene with protein product Approved 10q26.13 10q26.13 TRABID zinc finger, RAN-binding domain containing 1 "Zinc fingers RANBP2-type |OTU domain containing" "89|669" 2003-05-12 2016-02-12 2016-10-05 54764 ENSG00000019995 OTTHUMG00000019223 uc001lic.4 AJ252060 NM_017580 CCDS7642 Q9UGI0 11463333 MGI:106441 RGD:2321751 611749 C64.004 HGNC:18224 "ENST00000359653.4|NM_017580.3" +HGNC:13058 ZRANB2 zinc finger RANBP2-type containing 2 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "ZIS|ZIS1|ZIS2" ZNF265 "zinc finger protein 265|zinc finger, RAN-binding domain containing 2" "Zinc fingers RANBP2-type |MicroRNA protein coding host genes" "89|1691" 1999-07-19 2006-06-28 2016-02-12 2016-10-05 9406 ENSG00000132485 OTTHUMG00000009660 uc001dft.4 AF065391 NM_203350 "CCDS659|CCDS660" O95218 9931435 MGI:1858211 RGD:61854 604347 HGNC:13058 "ENST00000370920.8|NM_203350.3" +HGNC:43594 ZRANB2-AS1 ZRANB2 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 ZRANB2 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-11-22 2012-08-15 2012-10-12 100132618 ENSG00000235079 OTTHUMG00000009659 uc057hmu.1 BC070115 NR_038420 ZRANB2-AS1 HGNC:43594 +HGNC:43595 ZRANB2-DT ZRANB2 divergent transcript non-coding RNA RNA, long non-coding Approved 1p31.1 01p31.1 ZRANB2-AS2 "ZRANB2 antisense RNA 2 (non-protein coding)|ZRANB2 antisense RNA 2|ZRANB2 antisense RNA 2 (head to head)" Divergent transcripts 1990 2011-11-22 2021-07-28 2021-07-28 2021-07-28 100852410 ENSG00000229956 OTTHUMG00000009733 uc057hnc.1 BC054887 NR_046217 ZRANB2-AS2 HGNC:43595 +HGNC:25249 ZRANB3 zinc finger RANBP2-type containing 3 protein-coding gene gene with protein product Approved 2q21.3 02q21.3 "DKFZP434B1727|AH2" annealing helicase 2 zinc finger, RAN-binding domain containing 3 Zinc fingers RANBP2-type 89 2004-07-14 2016-02-12 2020-03-05 84083 ENSG00000121988 OTTHUMG00000150475 uc002tum.5 AL136824 NM_032143 "CCDS46419|CCDS67963|CCDS74580" Q5FWF4 11230166 MGI:1918362 RGD:1564952 615655 HGNC:25249 "ENST00000264159.11|NM_032143.4" +HGNC:23019 ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 protein-coding gene gene with protein product Approved Xp22.2 Xp22.2 "U2AF1-RS2|URP|ZC3H22" U2AF1L2 "U2(RNU2) small nuclear RNA auxiliary factor 1-like 2|U2 small nuclear RNA auxiliary factor 1-like 2" "Zinc fingers CCCH-type|RNA binding motif containing|U11/U12 di-snRNP" "73|725|1521" 2003-09-24 2006-09-26 2016-02-10 2021-04-13 8233 ENSG00000169249 OTTHUMG00000021184 uc004cxg.5 BC050451 NM_005089 CCDS14172 Q15696 "8586425|9237760|15146077" MGI:103287 RGD:1559763 "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZRSR2|LRG_618|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_618.xml" ZRSR2 300028 471374 HGNC:23019 "ENST00000307771.8|NM_005089.4" +HGNC:12456 ZRSR2P1 ZRSR2 pseudogene 1 pseudogene pseudogene Approved 5q22.2 05q22.2 "U2AF1-RS1|U2AF1RS1|ZC3H21" U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1 "U2AFBPL|U2AF1P|U2AF1L1|ZRSR1" "U2(RNU2) small nuclear RNA auxiliary factor binding protein-like|U2 small nuclear RNA auxillary factor 1-like 1|zinc finger CCCH-type, RNA binding motif and serine/arginine rich 1" RNA binding motif containing 725 1994-07-13 2017-11-30 2017-11-30 2017-11-30 7310 ENSG00000212643 OTTHUMG00000163143 uc021ycm.2 D49676 NG_005419 Q15695 7956352 MGI:103287 601079 HGNC:12456 +HGNC:23712 ZSCAN1 zinc finger and SCAN domain containing 1 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "FLJ33779|ZNF915" zinc finger with SCAN domain 1 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2004-03-29 2004-04-21 2021-04-27 284312 ENSG00000152467 OTTHUMG00000183381 uc002qrc.1 AK091098 NM_182572 CCDS12969 Q8NBB4 12477932 HGNC:23712 "ENST00000282326.6|NM_182572.4" +HGNC:20994 ZSCAN2 zinc finger and SCAN domain containing 2 protein-coding gene gene with protein product Approved 15q25.2 15q25.2 "FLJ20595|ZNF854" ZFP29 zinc finger protein 29 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-04-30 2004-11-02 2004-11-01 2021-04-27 54993 ENSG00000176371 OTTHUMG00000074027 uc059mrt.1 BC041620 NM_017894 "CCDS32316|CCDS32315|CCDS10329" Q7Z7L9 1937051 MGI:99176 RGD:1584548 HGNC:20994 "ENST00000546148.6|NM_181877.4" +HGNC:23709 ZSCAN4 zinc finger and SCAN domain containing 4 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ35105 ZNF494 zinc finger protein 494 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2004-11-02 2004-11-01 2021-04-27 201516 ENSG00000180532 OTTHUMG00000183474 uc002qpu.3 AK092424 NM_152677 CCDS12958 Q8NAM6 24735877 "MGI:2685243|MGI:3645447|MGI:3645954|MGI:3708485" RGD:1563625 613419 HGNC:23709 +HGNC:23710 ZSCAN5A zinc finger and SCAN domain containing 5A protein-coding gene gene with protein product Approved 19q13.43 19q13.43 MGC4161 "ZNF495|ZSCAN5" "zinc finger protein 495|zinc finger and SCAN domain containing 5" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2008-06-10 2008-06-10 2021-04-27 79149 ENSG00000131848 OTTHUMG00000181883 uc002qmr.4 AK098700 NM_024303 "CCDS12941|CCDS82403" Q9BUG6 27732952 MGI:2159640 HGNC:23710 "ENST00000683990.1|NM_001322064.3" +HGNC:55294 ZSCAN5A-AS1 ZSCAN5A antisense RNA 1 non-coding RNA RNA, long non-coding Approved 19q13.43 19q13.43 Antisense RNAs 1987 2020-10-14 2020-10-14 112268243 ENSG00000267549 +HGNC:34246 ZSCAN5B zinc finger and SCAN domain containing 5B protein-coding gene gene with protein product Approved 19q13.43 19q13.43 "ZNF495B|ZNF371" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2008-06-10 2021-04-27 342933 ENSG00000197213 OTTHUMG00000181827 uc061ddz.1 NM_001080456 CCDS46203 A6NJL1 27732952 MGI:2159640 RGD:1559143 HGNC:34246 +HGNC:34294 ZSCAN5C zinc finger and SCAN domain containing 5C protein-coding gene gene with protein product Approved 19q13.43 19q13.43 ZNF495C ZSCAN5CP zinc finger and SCAN domain containing 5C, pseudogene "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2008-06-10 2016-07-19 2016-07-19 2021-10-06 649137 ENSG00000204532 OTTHUMG00000167475 NM_001358413 CCDS86811 A6NGD5 27732952 MGI:2159640 HGNC:34294 +HGNC:37706 ZSCAN5DP zinc finger and SCAN domain containing 5D pseudogene pseudogene pseudogene Approved 19q13.43 19q13.43 ZNF495D ZSCAN5D "zinc finger and SCAN domain containing 5D, pseudogene|zinc finger and SCAN domain containing 5D" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2010-01-27 2016-09-27 2016-09-27 2021-04-27 646698 ENSG00000267908 OTTHUMG00000183254 NG_033860 P0CG00 27732952 MGI:2159640 RGD:6488065 HGNC:37706 +HGNC:12984 ZSCAN9 zinc finger and SCAN domain containing 9 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 PRD51 ZNF193 zinc finger protein 193 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1997-02-14 2013-01-09 2013-01-09 2021-04-27 7746 ENSG00000137185 OTTHUMG00000014515 uc003nkq.3 U62392 NM_006299 "CCDS56407|CCDS4646" O15535 602246 HGNC:12984 "ENST00000252207.10|NM_006299.5" +HGNC:12997 ZSCAN10 zinc finger and SCAN domain containing 10 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 ZNF206 zinc finger protein 206 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1999-03-09 2007-02-20 2007-02-20 2021-04-27 84891 ENSG00000130182 OTTHUMG00000177478 uc002ctv.4 AA206569 NM_032805 "CCDS61814|CCDS10493|CCDS61813" Q96SZ4 9653642 MGI:3040700 RGD:1310745 618365 HGNC:12997 "ENST00000576985.6|NM_032805.3" +HGNC:13172 ZSCAN12 zinc finger and SCAN domain containing 12 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "KIAA0426|ZNF29K1|ZFP96|dJ29K1.2" "ZNF305|ZNF96" "zinc finger protein 305|zinc finger protein 96" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2005-06-02 2007-02-20 2007-02-20 2021-04-27 9753 ENSG00000158691 OTTHUMG00000014522 uc063mll.1 AB007886 NM_014724 O43309 9244436 MGI:1099444 RGD:628738 603978 HGNC:13172 "ENST00000684592.1|NM_001163391.2" +HGNC:13850 ZSCAN12P1 zinc finger and SCAN domain containing 12 pseudogene 1 pseudogene pseudogene Approved 6p22.1 06p22.1 "ZNF187p1|dJ313I6.7" "ZNF305P1|ZNF96P1|ZNF96L1|ZSCAN12L1" "zinc finger protein 305 pseudogene 1|zinc finger protein 96 pseudogene 1|zinc finger protein 96-like 1|zinc finger and SCAN domain containing 12-like 1" 2003-11-27 2010-04-14 2010-04-14 2021-04-27 221584 ENSG00000219891 OTTHUMG00000014502 BC040524 NR_024063 PGOHUM00000243540 HGNC:13850 +HGNC:20813 ZSCAN16 zinc finger and SCAN domain containing 16 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "FLJ22191|dJ265C24.3" "ZNF392|ZNF435" "zinc finger protein 392|zinc finger protein 435" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-04-09 2007-02-20 2007-02-20 2021-04-27 80345 ENSG00000196812 OTTHUMG00000014509 uc003nkm.4 AK025844 NM_025231 CCDS4644 Q9H4T2 618544 HGNC:20813 "ENST00000340487.5|NM_025231.3" +HGNC:48982 ZSCAN16-AS1 ZSCAN16 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 6p22.1 06p22.1 Antisense RNAs 1987 2013-07-24 2021-07-21 100129195 ENSG00000269293 OTTHUMG00000184041 NR_103455 34097562 ZSCAN16-AS1 HGNC:48982 +HGNC:21037 ZSCAN18 zinc finger and SCAN domain containing 18 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 FLJ12895 ZNF447 zinc finger protein 447 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-06-02 2007-02-20 2007-02-20 2021-04-27 65982 ENSG00000121413 OTTHUMG00000183451 uc002qrh.3 "AY280799|AY279352" NM_023926 "CCDS12971|CCDS46215|CCDS46214" Q8TBC5 MGI:3643810 RGD:1560671 HGNC:21037 "ENST00000601144.6|NM_001145543.2" +HGNC:13093 ZSCAN20 zinc finger and SCAN domain containing 20 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 KOX29 "ZNF360|ZNF31" "zinc finger protein 31 (KOX 29)|zinc finger protein 31" "Zinc fingers C2H2-type|SCAN domain containing|Myb/SANT domain containing" "28|42|532" 1990-06-13 2007-02-20 2007-02-20 2021-04-27 7579 ENSG00000121903 OTTHUMG00000004173 uc001bxj.5 X52360 NM_145238 CCDS41300 P17040 2288909 MGI:2679268 RGD:1562996 611315 HGNC:13093 "ENST00000684572.1|NM_001377376.1" +HGNC:13104 ZSCAN21 zinc finger and SCAN domain containing 21 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 "DKFZp434L134|NY-REN-21|Zipro1" ZNF38 "zinc finger protein 38 (KOX 25)|zinc finger protein 38" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1990-09-30 2006-10-06 2006-10-06 2021-04-27 7589 ENSG00000166529 OTTHUMG00000154583 uc003uso.5 AL136865 NM_145914 "CCDS87526|CCDS5681" Q9Y5A6 "2288909|2014798" MGI:99182 RGD:1309981 601261 HGNC:13104 "ENST00000292450.9|NM_145914.3" +HGNC:4929 ZSCAN22 zinc finger and SCAN domain containing 22 protein-coding gene gene with protein product Approved 19q13.43 19q13.43 oncogene HKR2 "ZNF50|HKR2" "zinc finger protein 50|GLI-Kruppel family member HKR2" "Zinc fingers C2H2-type|SCAN domain containing|MicroRNA protein coding host genes" "28|42|1691" 1989-05-29 2006-09-20 2006-09-20 2021-04-27 342945 ENSG00000182318 OTTHUMG00000183463 uc002qsc.3 M20675 NM_181846 CCDS12975 P10073 "2850480|1505991" MGI:2443312 RGD:7606541 165260 HGNC:4929 "ENST00000329665.5|NM_181846.3" +HGNC:21193 ZSCAN23 zinc finger and SCAN domain containing 23 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 dJ29K1.3.1 "ZNF453|ZNF390" "zinc finger protein 453|zinc finger protein 390" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-05-27 2007-02-20 2007-02-20 2021-04-27 222696 ENSG00000187987 OTTHUMG00000016346 uc003nli.5 AK092117 NM_001012455 CCDS47393 Q3MJ62 HGNC:21193 "ENST00000289788.5|NM_001012455.2" +HGNC:21961 ZSCAN25 zinc finger and SCAN domain containing 25 protein-coding gene gene with protein product Approved 7q22.1 07q22.1 FLJ32468 ZNF498 zinc finger protein 498 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-12-03 2013-01-09 2013-01-09 2021-04-27 221785 ENSG00000197037 OTTHUMG00000074055 uc003url.1 AK057030 NM_145115 CCDS5671 Q6NSZ9 11179890 MGI:3647079 RGD:1308619 HGNC:21961 "ENST00000394152.7|NM_145115.3" +HGNC:12978 ZSCAN26 zinc finger and SCAN domain containing 26 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 SRE-ZBP ZNF187 zinc finger protein 187 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 1996-12-12 2013-01-09 2013-01-09 2021-04-27 7741 ENSG00000197062 OTTHUMG00000014519 uc032wpm.2 Z11773 NM_007151 "CCDS75415|CCDS78119|CCDS75414" Q16670 1569959 MGI:3531417 RGD:727885 616474 HGNC:12978 "ENST00000421553.7|NM_001023560.4" +HGNC:26673 ZSCAN29 zinc finger and SCAN domain containing 29 protein-coding gene gene with protein product Approved 15q15.3 15q15.3 "FLJ35867|Zfp690" ZNF690 zinc finger protein 690 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2005-05-10 2007-03-08 2007-03-08 2021-04-27 146050 ENSG00000140265 OTTHUMG00000130767 uc001zrk.2 AF525399 NM_152455 CCDS10095 Q8IWY8 12434312 MGI:2139317 RGD:1559150 HGNC:26673 "ENST00000684362.1|NM_001372080.1" +HGNC:33517 ZSCAN30 zinc finger and SCAN domain containing 30 protein-coding gene gene with protein product Approved 18q12.2 18q12.2 ZNF917 ZNF397OS "zinc finger protein 397 opposite strand|ZNF397 opposite strand" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2007-07-10 2010-07-23 2010-07-23 2021-04-27 100101467 ENSG00000186814 OTTHUMG00000178569 uc002kyl.5 AY234408 NM_001112734 "CCDS42427|CCDS74207" Q86W11 12801647 MGI:2685600 RGD:1306095 HGNC:33517 "ENST00000333206.10|NM_001112734.4" +HGNC:14097 ZSCAN31 zinc finger and SCAN domain containing 31 protein-coding gene gene with protein product Approved 6p22.1 06p22.1 "ZNF310P|ZNF323" "zinc finger protein 310 pseudogene|zinc finger protein 323" "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2000-12-11 2013-01-08 2013-01-08 2021-04-27 64288 ENSG00000235109 OTTHUMG00000014518 uc010jra.4 NM_030899 "CCDS59001|CCDS4649" Q96LW9 610794 HGNC:14097 "ENST00000344279.11|NM_030899.5" +HGNC:20812 ZSCAN32 zinc finger and SCAN domain containing 32 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 FLJ20417 ZNF434 zinc finger protein 434 "Zinc fingers C2H2-type|SCAN domain containing" "28|42" 2003-04-09 2013-01-09 2013-01-09 2021-04-27 54925 ENSG00000140987 OTTHUMG00000129357 uc002cux.5 AK000424 NM_017810 "CCDS10503|CCDS66921|CCDS66920" Q9NX65 HGNC:20812 "ENST00000396852.9|NM_001284527.2" +HGNC:16155 ZSWIM1 zinc finger SWIM-type containing 1 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 dJ337O18.5 C20orf162 chromosome 20 open reading frame 162 Zinc fingers SWIM-type 90 2001-07-17 2003-12-19 2016-02-15 2016-02-15 90204 ENSG00000168612 OTTHUMG00000074023 uc010ghi.4 AL008726 NM_080603 CCDS13382 Q9BR11 24508175 MGI:1919221 RGD:1305715 HGNC:16155 "ENST00000372523.1|NM_080603.5" +HGNC:30990 ZSWIM2 zinc finger SWIM-type containing 2 protein-coding gene gene with protein product Approved 2q32.1 02q32.1 "MGC33890|ZZZ2|MEX" "Ring finger proteins|Zinc fingers SWIM-type|Zinc fingers ZZ-type" "58|90|91" 2003-12-17 2016-02-15 2017-11-28 151112 ENSG00000163012 OTTHUMG00000154259 uc002upu.2 AK128006 NM_182521 CCDS33348 Q8NEG5 16522193 MGI:1919111 RGD:1311373 HGNC:30990 "ENST00000295131.3|NM_182521.3" +HGNC:16157 ZSWIM3 zinc finger SWIM-type containing 3 protein-coding gene gene with protein product Approved 20q13.12 20q13.12 "dJ337O18.7|PPP1R174" protein phosphatase 1, regulatory subunit 174 C20orf164 chromosome 20 open reading frame 164 Zinc fingers SWIM-type 90 2001-07-17 2003-12-19 2016-02-15 2016-02-15 140831 ENSG00000132801 OTTHUMG00000032627 uc002xqd.4 AL008726 NM_080752 CCDS13381 Q96MP5 MGI:1914788 RGD:1309789 HGNC:16157 "ENST00000255152.3|NM_080752.4" +HGNC:25704 ZSWIM4 zinc finger SWIM-type containing 4 protein-coding gene gene with protein product Approved 19p13.13 19p13.13 FLJ12221 Zinc fingers SWIM-type 90 2003-12-17 2016-02-15 2018-11-23 65249 ENSG00000132003 OTTHUMG00000181752 uc002mxh.1 AK022283 NM_023072 CCDS32924 Q9H7M6 MGI:2443726 RGD:1308020 HGNC:25704 "ENST00000590508.6|NM_001367834.3" +HGNC:29299 ZSWIM5 zinc finger SWIM-type containing 5 protein-coding gene gene with protein product Approved 1p34.1 01p34.1 KIAA1511 Zinc fingers SWIM-type 90 2003-12-17 2016-02-15 2018-11-23 57643 ENSG00000162415 OTTHUMG00000008950 uc001cnd.3 AB040944 NM_020883 CCDS41319 Q9P217 10819331 MGI:1921714 RGD:1310741 HGNC:29299 "ENST00000359600.6|NM_020883.2" +HGNC:43768 ZSWIM5P1 zinc finger SWIM-type containing 5 pseudogene 1 pseudogene pseudogene Approved 17p12 17p12 2012-02-23 2016-02-15 2016-02-15 100130110 ENSG00000235430 OTTHUMG00000059143 NG_022443 PGOHUM00000293964 HGNC:43768 +HGNC:43769 ZSWIM5P2 zinc finger SWIM-type containing 5 pseudogene 2 pseudogene pseudogene Approved 17p11.2 17p11.2 2012-02-23 2016-02-15 2016-02-15 100132201 ENSG00000231258 OTTHUMG00000059558 NG_022447 PGOHUM00000293997 HGNC:43769 +HGNC:43770 ZSWIM5P3 zinc finger SWIM-type containing 5 pseudogene 3 pseudogene pseudogene Approved 4q28.2 04q28.2 2012-02-23 2016-02-15 2016-02-15 391697 ENSG00000248958 OTTHUMG00000161310 NG_022037 PGOHUM00000299997 HGNC:43770 +HGNC:29316 ZSWIM6 zinc finger SWIM-type containing 6 protein-coding gene gene with protein product Approved 5q12.1 05q12.1 KIAA1577 Zinc fingers SWIM-type 90 2003-12-17 2016-02-15 2021-05-26 57688 ENSG00000130449 OTTHUMG00000162388 uc003jsr.4 BC039438 NM_020928 CCDS47215 Q9HCJ5 "10997877|16427614" MGI:1914513 RGD:1306624 615951 410706 HGNC:29316 "ENST00000252744.6|NM_020928.2" HGNC:29316 +HGNC:26993 ZSWIM7 zinc finger SWIM-type containing 7 protein-coding gene gene with protein product Approved 17p12 17p12 SWS1 SWIM domain containing Srs2 interacting protein 1 Zinc fingers SWIM-type 90 2007-03-27 2016-02-15 2018-09-21 125150 ENSG00000214941 OTTHUMG00000059308 uc002gpf.4 AK093384 NM_001042697 CCDS42266 Q19AV6 16710300 MGI:1916997 RGD:1310324 614535 HGNC:26993 "ENST00000399277.6|NM_001042697.2" HGNC:26993 +HGNC:23528 ZSWIM8 zinc finger SWIM-type containing 8 protein-coding gene gene with protein product Approved 10q22.2 10q22.2 4832404P21Rik KIAA0913 KIAA0913 Zinc fingers SWIM-type 90 2004-05-27 2012-11-02 2016-02-15 2016-10-05 23053 ENSG00000214655 OTTHUMG00000018486 uc009xrl.4 "BC151206|BC040726" NM_001242487 "CCDS60560|CCDS44440" A7E2V4 MGI:1919156 RGD:1309414 619213 HGNC:23528 "ENST00000604729.6|NM_001367799.1" +HGNC:45103 ZSWIM8-AS1 ZSWIM8 antisense RNA 1 non-coding RNA RNA, long non-coding Approved 10q22.2 10q22.2 Antisense RNAs 1987 2013-02-15 2015-02-02 100507331 ENSG00000272589 OTTHUMG00000185986 uc057udo.1 NR_038357 ZSWIM8-AS1 HGNC:45103 +HGNC:34495 ZSWIM9 zinc finger SWIM-type containing 9 protein-coding gene gene with protein product Approved 19q13.33 19q13.33 LOC374920 C19orf68 chromosome 19 open reading frame 68 Zinc fingers SWIM-type 90 2008-08-06 2017-07-21 2017-07-21 2018-03-01 374920 ENSG00000185453 OTTHUMG00000183190 uc032iar.1 BC043386 NM_199341 CCDS74411 Q86XI8 12477932 MGI:2447816 RGD:1310257 HGNC:34495 "ENST00000614654.2|NM_199341.4" +HGNC:21224 ZUP1 zinc finger containing ubiquitin peptidase 1 protein-coding gene gene with protein product Approved 6q22.1 06q22.1 dJ412I7.3 "C6orf113|ZUFSP" "chromosome 6 open reading frame 113|zinc finger with UFM1 specific peptidase domain|zinc finger containing ubiquitin peptidase" "Zinc fingers C2H2-type|ZUP1 deubiquitinase" "28|1820" 2003-11-25 2018-02-12 2018-02-12 2019-02-26 221302 ENSG00000153975 OTTHUMG00000015445 uc003pxf.3 AK054582 NM_145062 CCDS5110 Q96AP4 "29476094|29576527" MGI:1919830 RGD:1307672 HGNC:21224 "ENST00000368576.8|NM_145062.3" +HGNC:13194 ZW10 zw10 kinetochore protein protein-coding gene gene with protein product Approved 11q23.2 11q23.2 KNTC1AP "ZW10 (Drosophila) homolog, centromere/kinetochore protein|ZW10, kinetochore associated, homolog (Drosophila)" "NRZ tethering complex|RZZ complex" "1931|1933" 1999-05-11 2012-12-13 2016-10-05 9183 ENSG00000086827 OTTHUMG00000168190 uc001poe.4 U54996 NM_004724 CCDS8363 O43264 9298984 MGI:1349478 RGD:1309197 603954 HGNC:13194 "ENST00000200135.8|NM_004724.4" +HGNC:25468 ZWILCH zwilch kinetochore protein protein-coding gene gene with protein product Approved 15q22.31 15q22.31 "FLJ10036|KNTC1AP" Zwilch, kinetochore associated, homolog (Drosophila) RZZ complex 1933 2005-07-25 2012-12-13 2014-11-19 55055 ENSG00000174442 OTTHUMG00000133194 uc002aqb.5 AK023175 NM_017975 "CCDS10219|CCDS73746" Q9H900 12686595 MGI:1915264 RGD:1583880 609984 HGNC:25468 "ENST00000307897.10|NM_017975.5" HGNC:25468 +HGNC:13195 ZWINT ZW10 interacting kinetochore protein protein-coding gene gene with protein product Approved 10q21.1 10q21.1 "KNTC2AP|SIP30|Zwint1" SNAP25 interacting protein of 30 kDa ZW10 interactor KNL1 complex 1575 2001-06-22 2013-05-01 2018-04-13 11130 ENSG00000122952 OTTHUMG00000018261 uc001jjx.2 AF067656 NM_001005413 "CCDS7249|CCDS31205" O95229 10806105 MGI:1289227 RGD:628671 609177 HGNC:13195 "ENST00000373944.8|NM_007057.4" +HGNC:13198 ZXDA zinc finger X-linked duplicated A protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 ZNF896 zinc finger protein 896 Zinc fingers C2H2-type 28 1993-11-02 2018-04-26 2021-04-27 7789 ENSG00000198205 OTTHUMG00000021688 uc004dve.4 L14787 NM_007156 CCDS14376 P98168 8268913 MGI:3694898 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ZXDA 300235 HGNC:13198 "ENST00000358697.6|NM_007156.5" +HGNC:13199 ZXDB zinc finger X-linked duplicated B protein-coding gene gene with protein product Approved Xp11.21 Xp11.21 ZNF905 Zinc fingers C2H2-type 28 1994-08-29 2018-04-26 2021-04-27 158586 ENSG00000198455 OTTHUMG00000021685 uc004dvd.4 L14788 NM_007157 CCDS35313 P98169 8268913 MGI:3694898 RGD:1563355 300236 HGNC:13199 "ENST00000374888.3|NM_007157.4" +HGNC:28160 ZXDC ZXD family zinc finger C protein-coding gene gene with protein product Approved 3q21.3 03q21.3 "MGC11349|FLJ13861" Zinc fingers C2H2-type 28 2005-05-10 2015-08-24 79364 ENSG00000070476 OTTHUMG00000162754 uc003eiv.3 AK023923 NM_025112 "CCDS43146|CCDS43145" Q2QGD7 "8619474|9110174" MGI:1933108 RGD:1561296 615746 HGNC:28160 "ENST00000389709.8|NM_025112.5" +HGNC:32058 ZYG11A zyg-11 family member A, cell cycle regulator protein-coding gene gene with protein product Approved 1p32.3 01p32.3 ZYG11 zyg-11 homolog A (C. elegans) "ZYG11 cell cycle regulator family|Armadillo like helical domain containing" "6|1492" 2005-07-11 2012-12-10 2017-07-14 440590 ENSG00000203995 OTTHUMG00000008923 uc001cuk.3 NM_001004339 "CCDS76166|CCDS44148" Q6WRX3 11719588 MGI:2446208 RGD:1309582 618675 HGNC:32058 "ENST00000371528.2|NM_001004339.3" +HGNC:38032 ZYG11AP1 zyg-11 family member A, cell cycle regulator pseudogene 1 pseudogene pseudogene Approved 9q31.1 09q31.1 zyg-11 homolog A (C. elegans) pseudogene 1 2010-03-23 2012-12-10 2015-05-07 100131879 ENSG00000232242 OTTHUMG00000020394 NG_021631 PGOHUM00000304018 HGNC:38032 +HGNC:25820 ZYG11B zyg-11 family member B, cell cycle regulator protein-coding gene gene with protein product Approved 1p32.3 01p32.3 FLJ13456 ZYG11 "zyg-11 homolog (C. elegans)|zyg-11 homolog B (C. elegans)" "ZYG11 cell cycle regulator family|Armadillo like helical domain containing" "6|1492" 2005-06-06 2005-07-11 2012-12-10 2015-08-26 79699 ENSG00000162378 OTTHUMG00000008938 uc001cuj.4 AB051517 NM_024646 CCDS30717 Q9C0D3 11214970 MGI:2685277 RGD:1307814 618673 HGNC:25820 "ENST00000294353.7|NM_024646.3" HGNC:25820 +HGNC:13200 ZYX zyxin protein-coding gene gene with protein product Approved 7q34 07q34 "Zyxin family|MicroRNA protein coding host genes" "1402|1691" 1997-10-16 2016-10-05 7791 ENSG00000159840 OTTHUMG00000023822 uc003wcx.5 X95735 NM_003461 CCDS5883 Q15942 "8917469|8940160" MGI:103072 RGD:620698 602002 HGNC:13200 "ENST00000322764.10|NM_003461.5" +HGNC:51695 ZYXP1 zyxin pseudogene 1 pseudogene pseudogene Approved 8q24.23 08q24.23 2015-05-07 2015-05-07 106480342 ENSG00000274572 OTTHUMG00000187758 NG_044600 PGOHUM00000303383 HGNC:51695 +HGNC:29027 ZZEF1 zinc finger ZZ-type and EF-hand domain containing 1 protein-coding gene gene with protein product Approved 17p13.2 17p13.2 "KIAA0399|ZZZ4|FLJ10821" zinc finger, ZZ-type with EF hand domain 1 "Zinc fingers ZZ-type|EF-hand domain containing" "91|863" 2004-02-27 2016-02-12 2016-10-05 23140 ENSG00000074755 OTTHUMG00000090741 uc002fxe.4 BC035319 NM_015113 CCDS11043 O43149 9455477 MGI:2444286 RGD:1311189 619459 HGNC:29027 "ENST00000381638.7|NM_015113.4" +HGNC:24523 ZZZ3 zinc finger ZZ-type containing 3 protein-coding gene gene with protein product Approved 1p31.1 01p31.1 "DKFZP564I052|ATAC1" ATAC component 1 homolog (Drosophila) "Zinc fingers ZZ-type|Myb/SANT domain containing|ATAC complex" "91|532|1058" 2004-01-13 2016-02-12 2016-02-12 26009 ENSG00000036549 OTTHUMG00000009652 uc001dhq.4 AL080063 NM_015534 "CCDS76172|CCDS677" Q8IYH5 "16428443|21304275" MGI:1920453 RGD:1565468 HGNC:24523 "ENST00000370801.8|NM_015534.6" diff --git a/data/hgnc/withdrawn.txt b/data/hgnc/withdrawn.txt deleted file mode 100644 index 552f238..0000000 --- a/data/hgnc/withdrawn.txt +++ /dev/null @@ -1,5151 +0,0 @@ -HGNC_ID STATUS WITHDRAWN_SYMBOL MERGED_INTO_REPORT(S) (i.e HGNC_ID|SYMBOL|STATUS) -HGNC:1 Entry Withdrawn A12M1 -HGNC:2 Entry Withdrawn A12M2 -HGNC:3 Entry Withdrawn A12M3 -HGNC:4 Entry Withdrawn A12M4 -HGNC:6 Merged/Split A1S9T HGNC:12469|UBA1|Approved -HGNC:9 Merged/Split A2MR HGNC:6692|LRP1|Approved -HGNC:10 Merged/Split A2MRAP HGNC:6701|LRPAP1|Approved -HGNC:11 Merged/Split AA HGNC:11714|TEAD1|Approved -HGNC:12 Entry Withdrawn AABT -HGNC:13 Merged/Split AAC1 HGNC:7645|NAT1|Approved -HGNC:14 Merged/Split AAC2 HGNC:7646|NAT2|Approved -HGNC:24 Merged/Split ABC1 HGNC:29|ABCA1|Approved -HGNC:25 Merged/Split ABC2 HGNC:32|ABCA2|Approved -HGNC:26 Merged/Split ABC3 HGNC:33|ABCA3|Approved -HGNC:27 Merged/Split ABC50 HGNC:70|ABCF1|Approved -HGNC:28 Merged/Split ABC7 HGNC:48|ABCB7|Approved -HGNC:58 Merged/Split ABCC7 HGNC:1884|CFTR|Approved -HGNC:75 Merged/Split ABCR HGNC:34|ABCA4|Approved -HGNC:86 Entry Withdrawn ACAD -HGNC:96 Merged/Split ACBP HGNC:2313|CPN2|Approved -HGNC:97 Merged/Split ACC HGNC:84|ACACA|Approved -HGNC:98 Merged/Split ACCN HGNC:99|ASIC2|Approved -HGNC:106 Merged/Split ACH HGNC:3690|FGFR3|Approved -HGNC:107 Merged/Split ACHAP HGNC:21101|CUTA|Approved -HGNC:109 Merged/Split ACHM1 HGNC:2153|CNGB3|Approved -HGNC:110 Merged/Split ACHM2 HGNC:2150|CNGA3|Approved -HGNC:111 Merged/Split ACHM3 HGNC:2153|CNGB3|Approved -HGNC:112 Merged/Split ACHRD HGNC:1965|CHRND|Approved -HGNC:113 Merged/Split ACHRG HGNC:1967|CHRNG|Approved -HGNC:114 Entry Withdrawn ACLS -HGNC:116 Entry Withdrawn ACMG -HGNC:128 Merged/Split ACS3 HGNC:12428|TWIST1|Approved -HGNC:131 Merged/Split ACTA3 HGNC:145|ACTG2|Approved -HGNC:138 Entry Withdrawn ACTBP5 -HGNC:156 Merged/Split ACTL2 HGNC:147|ACTG1P2|Approved -HGNC:157 Merged/Split ACTL3 HGNC:145|ACTG2|Approved -HGNC:158 Entry Withdrawn ACTL4 -HGNC:159 Entry Withdrawn ACTL5 -HGNC:176 Merged/Split ACVRLK2 HGNC:171|ACVR1|Approved -HGNC:178 Merged/Split ACY1L HGNC:26295|CCDC102B|Approved -HGNC:181 Merged/Split AD1 HGNC:620|APP|Approved -HGNC:182 Merged/Split AD2 HGNC:613|APOE|Approved -HGNC:183 Merged/Split AD3 HGNC:9508|PSEN1|Approved -HGNC:184 Merged/Split AD4 HGNC:9509|PSEN2|Approved -HGNC:185 Entry Withdrawn AD5 -HGNC:230 Merged/Split ADCP2 HGNC:3009|DPP4|Approved -HGNC:231 Merged/Split ADCR HGNC:12797|WT2|Entry Withdrawn -HGNC:246 Merged/Split ADDL HGNC:245|ADD3|Approved -HGNC:247 Entry Withdrawn ADFN -HGNC:254 Entry Withdrawn ADH5P1 -HGNC:258 Merged/Split ADL HGNC:10805|SGCA|Approved -HGNC:260 Merged/Split ADMLX HGNC:6211|ANOS1|Approved -HGNC:261 Merged/Split ADMLY HGNC:6214|ANOS2P|Approved -HGNC:266 Entry Withdrawn ADORA2L1 -HGNC:267 Entry Withdrawn ADORA2L2 -HGNC:279 Merged/Split ADRA1C HGNC:277|ADRA1A|Approved -HGNC:284 Merged/Split ADRA2L1 HGNC:282|ADRA2B|Approved -HGNC:287 Merged/Split ADRB2RL1 HGNC:5286|HTR1A|Approved -HGNC:293 Entry Withdrawn ADT -HGNC:294 Merged/Split ADTAA HGNC:561|AP2A1|Approved -HGNC:295 Merged/Split ADTAB HGNC:562|AP2A2|Approved -HGNC:296 Merged/Split ADTB1 HGNC:554|AP1B1|Approved -HGNC:299 Merged/Split ADTB2 HGNC:563|AP2B1|Approved -HGNC:300 Merged/Split ADTG HGNC:555|AP1G1|Approved -HGNC:301 Merged/Split AE1 HGNC:11027|SLC4A1|Approved -HGNC:302 Merged/Split AE2 HGNC:11028|SLC4A2|Approved -HGNC:305 Merged/Split AEMK HGNC:6218|KCNA1|Approved -HGNC:306 Merged/Split AEPLC HGNC:934|BACE2|Approved -HGNC:308 Merged/Split AEZ HGNC:17129|SLC39A4|Approved -HGNC:309 Entry Withdrawn AF8T -HGNC:310 Entry Withdrawn AFA -HGNC:311 Merged/Split AFCP HGNC:1474|CAPG|Approved -HGNC:312 Entry Withdrawn AFD1 -HGNC:313 Merged/Split AFG3 HGNC:314|AFG3L1P|Approved -HGNC:322 Merged/Split AGMX1 HGNC:1133|BTK|Approved -HGNC:323 Entry Withdrawn AGMX2 -HGNC:331 Merged/Split AGS HGNC:6188|JAG1|Approved -HGNC:332 Merged/Split AGS1 HGNC:12269|TREX1|Approved -HGNC:334 Merged/Split AGTBP HGNC:16058|NLN|Approved -HGNC:335 Merged/Split AGTIL HGNC:745|ASIP|Approved -HGNC:337 Merged/Split AGTR1B HGNC:336|AGTR1|Approved -HGNC:340 Entry Withdrawn AGTRL2 -HGNC:342 Merged/Split AHC HGNC:7960|NR0B1|Approved -HGNC:345 Merged/Split AHDS HGNC:10923|SLC16A2|Approved -HGNC:350 Entry Withdrawn AIC -HGNC:351 Merged/Split AIED HGNC:1393|CACNA1F|Approved -HGNC:353 Merged/Split AIH1 HGNC:461|AMELX|Approved -HGNC:354 Merged/Split AIH2 HGNC:3344|ENAM|Approved -HGNC:355 Entry Withdrawn AIH3 -HGNC:366 Merged/Split AK6 HGNC:17376|AK3|Approved -HGNC:383 Merged/Split AKR1B11 HGNC:382|AKR1B10|Approved -HGNC:394 Merged/Split AKU HGNC:4892|HGD|Approved -HGNC:398 Merged/Split ALAS3 HGNC:396|ALAS1|Approved -HGNC:401 Merged/Split ALD HGNC:61|ABCD1|Approved -HGNC:413 Merged/Split ALDL1 HGNC:66|ABCD2|Approved -HGNC:419 Merged/Split ALDR1 HGNC:381|AKR1B1|Approved -HGNC:421 Entry Withdrawn ALDRL2 -HGNC:424 Entry Withdrawn ALDRL5 -HGNC:426 Entry Withdrawn ALFN1 -HGNC:440 Entry Withdrawn ALPPL1 -HGNC:442 Merged/Split ALS1 HGNC:11179|SOD1|Approved -HGNC:444 Entry Withdrawn ALS3 -HGNC:446 Merged/Split ALS5 HGNC:11226|SPG11|Approved -HGNC:448 Merged/Split ALUNC HGNC:5172|HR|Approved -HGNC:454 Merged/Split AMCD1 HGNC:12011|TPM2|Approved -HGNC:455 Merged/Split AMCD2B HGNC:11946|TNNI2|Approved -HGNC:456 Entry Withdrawn AMCN -HGNC:458 Merged/Split AMD2 HGNC:460|AMD1P2|Approved -HGNC:459 Merged/Split AMDM HGNC:7944|NPR2|Approved -HGNC:472 Merged/Split AMPHL HGNC:1052|BIN1|Approved -HGNC:480 Merged/Split AN1 HGNC:8620|PAX6|Approved -HGNC:481 Merged/Split AN2 HGNC:8620|PAX6|Approved -HGNC:486 Merged/Split ANGPT3 HGNC:489|ANGPTL1|Approved -HGNC:488 Merged/Split ANGPT5 HGNC:491|ANGPTL3|Approved -HGNC:498 Entry Withdrawn ANOP1 -HGNC:499 Merged/Split ANP HGNC:7939|NPPA|Approved -HGNC:501 Merged/Split ANPRA HGNC:7943|NPR1|Approved -HGNC:502 Merged/Split ANPRB HGNC:7944|NPR2|Approved -HGNC:503 Merged/Split ANPRC HGNC:7945|NPR3|Approved -HGNC:504 Merged/Split ANT1 HGNC:10990|SLC25A4|Approved -HGNC:505 Merged/Split ANT2 HGNC:10991|SLC25A5|Approved -HGNC:506 Merged/Split ANT3 HGNC:10992|SLC25A6|Approved -HGNC:508 Entry Withdrawn ANTP2 -HGNC:509 Merged/Split ANTP3 HGNC:19250|SLC25A5P1|Approved -HGNC:510 Entry Withdrawn ANTP4 -HGNC:514 Merged/Split ANX1 HGNC:533|ANXA1|Approved -HGNC:515 Merged/Split ANX11 HGNC:535|ANXA11|Approved -HGNC:516 Merged/Split ANX13 HGNC:536|ANXA13|Approved -HGNC:517 Merged/Split ANX2 HGNC:537|ANXA2|Approved -HGNC:518 Merged/Split ANX2L1 HGNC:538|ANXA2P1|Approved -HGNC:519 Merged/Split ANX2L2 HGNC:539|ANXA2P2|Approved -HGNC:520 Merged/Split ANX2L3 HGNC:540|ANXA2P3|Approved -HGNC:521 Merged/Split ANX2L4 HGNC:537|ANXA2|Approved -HGNC:522 Merged/Split ANX2LG HGNC:10487|S100A10|Approved -HGNC:523 Merged/Split ANX2P1 HGNC:538|ANXA2P1|Approved -HGNC:524 Merged/Split ANX2P2 HGNC:539|ANXA2P2|Approved -HGNC:525 Merged/Split ANX2P3 HGNC:540|ANXA2P3|Approved -HGNC:526 Merged/Split ANX3 HGNC:541|ANXA3|Approved -HGNC:527 Merged/Split ANX31 HGNC:547|ANXA9|Approved -HGNC:528 Merged/Split ANX4 HGNC:542|ANXA4|Approved -HGNC:529 Merged/Split ANX5 HGNC:543|ANXA5|Approved -HGNC:530 Merged/Split ANX6 HGNC:544|ANXA6|Approved -HGNC:531 Merged/Split ANX7 HGNC:545|ANXA7|Approved -HGNC:532 Merged/Split ANX8 HGNC:546|ANXA8|Approved -HGNC:551 Merged/Split AOM HGNC:2200|COL2A1|Approved -HGNC:552 Merged/Split AOP1 HGNC:9354|PRDX3|Approved -HGNC:577 Merged/Split APAH1 HGNC:8049|NUDT2|Approved -HGNC:585 Merged/Split APECED HGNC:360|AIRE|Approved -HGNC:596 Merged/Split API6 HGNC:1690|CD5L|Approved -HGNC:599 Merged/Split APNH HGNC:11071|SLC9A1|Approved -HGNC:606 Entry Withdrawn APOBER1 -HGNC:614 Entry Withdrawn APOEL1 -HGNC:617 Merged/Split APOJ HGNC:2095|CLU|Approved -HGNC:623 Entry Withdrawn APPL -HGNC:624 Merged/Split APPL2 HGNC:598|APLP2|Approved -HGNC:625 Merged/Split APR HGNC:6692|LRP1|Approved -HGNC:627 Merged/Split APS HGNC:6364|KLK3|Approved -HGNC:628 Merged/Split APT1 HGNC:11920|FAS|Approved -HGNC:629 Merged/Split APT1LG1 HGNC:11936|FASLG|Approved -HGNC:632 Merged/Split APY HGNC:7316|MS4A2|Approved -HGNC:635 Merged/Split AQP2L HGNC:639|AQP6|Approved -HGNC:641 Merged/Split AQP7L HGNC:640|AQP7|Approved -HGNC:645 Merged/Split ARA HGNC:57|ABCC6|Approved -HGNC:650 Entry Withdrawn ARCN2 -HGNC:653 Merged/Split ARF2 HGNC:655|ARF4|Approved -HGNC:665 Merged/Split ARH12 HGNC:667|RHOA|Approved -HGNC:666 Merged/Split ARH6 HGNC:668|RHOB|Approved -HGNC:699 Merged/Split ARMD1 HGNC:19194|HMCN1|Approved -HGNC:702 Merged/Split ARP1 HGNC:7976|NR2F2|Approved -HGNC:709 Merged/Split ARR1 HGNC:711|ARRB1|Approved -HGNC:715 Merged/Split ARSC1 HGNC:11425|STS|Approved -HGNC:729 Merged/Split ARVD1 HGNC:11769|TGFB3|Approved -HGNC:730 Merged/Split ARVD2 HGNC:10484|RYR2|Approved -HGNC:731 Entry Withdrawn ARVD3 -HGNC:732 Entry Withdrawn ARVD4 -HGNC:733 Merged/Split ARVD5 HGNC:28472|TMEM43|Approved -HGNC:734 Merged/Split AS HGNC:4932|HLA-B|Approved -HGNC:737 Merged/Split ASB HGNC:397|ALAS2|Approved -HGNC:741 Entry Withdrawn ASD1 -HGNC:748 Merged/Split ASLN HGNC:2207|COL4A5|Approved -HGNC:749 Merged/Split ASMD HGNC:9006|PITX3|Approved -HGNC:774 Entry Withdrawn ASVS1 -HGNC:776 Merged/Split ATA HGNC:795|ATM|Approved -HGNC:778 Merged/Split ATC HGNC:795|ATM|Approved -HGNC:780 Entry Withdrawn ATD -HGNC:781 Merged/Split ATDC HGNC:795|ATM|Approved -HGNC:793 Entry Withdrawn ATHS -HGNC:796 Merged/Split ATN1L HGNC:9965|RERE|Approved -HGNC:802 Merged/Split ATP1AL1 HGNC:13816|ATP12A|Approved -HGNC:803 Merged/Split ATP1AL2 HGNC:14073|ATP1A4|Approved -HGNC:810 Merged/Split ATP1G1 HGNC:4026|FXYD2|Approved -HGNC:818 Entry Withdrawn ATP3 -HGNC:821 Merged/Split ATP5 HGNC:847|ATP5PF|Approved -HGNC:822 Merged/Split ATP5A HGNC:847|ATP5PF|Approved -HGNC:825 Merged/Split ATP5A1P5 HGNC:827|ATP5F1AP1|Approved -HGNC:826 Merged/Split ATP5AL2 HGNC:823|ATP5F1A|Approved -HGNC:832 Entry Withdrawn ATP5BL2 -HGNC:835 Merged/Split ATP5CL1 HGNC:833|ATP5F1C|Approved -HGNC:836 Merged/Split ATP5CL2 HGNC:834|ATP5F1CP1|Approved -HGNC:852 Entry Withdrawn ATP6V1A2 -HGNC:867 Merged/Split ATP6N2 HGNC:866|ATP6V0A4|Approved -HGNC:872 Merged/Split ATPL HGNC:855|ATP6V0C|Approved -HGNC:873 Merged/Split ATPM HGNC:823|ATP5F1A|Approved -HGNC:874 Merged/Split ATPSB HGNC:830|ATP5F1B|Approved -HGNC:875 Merged/Split ATPSBL1 HGNC:831|ATP5F1BP1|Approved -HGNC:876 Merged/Split ATPSBL2 HGNC:832|ATP5BL2|Entry Withdrawn -HGNC:883 Merged/Split ATRC1 HGNC:11057|SLC7A1|Approved -HGNC:884 Merged/Split ATRC2 HGNC:11060|SLC7A2|Approved -HGNC:887 Merged/Split ATS HGNC:2207|COL4A5|Approved -HGNC:889 Merged/Split AUF1 HGNC:5036|HNRNPD|Approved -HGNC:892 Entry Withdrawn AUTS1 -HGNC:893 Merged/Split AVED HGNC:12404|TTPA|Approved -HGNC:898 Merged/Split AVPR3 HGNC:896|AVPR1B|Approved -HGNC:899 Entry Withdrawn AVR -HGNC:900 Entry Withdrawn AVRR -HGNC:901 Merged/Split AWAL HGNC:2047|CLDN5|Approved -HGNC:902 Merged/Split AXA1 HGNC:15984|APTX|Approved -HGNC:906 Merged/Split AXPC1 HGNC:24682|FLVCR1|Approved -HGNC:907 Merged/Split AXT HGNC:2172|CNTN2|Approved -HGNC:908 Entry Withdrawn AZF1 -HGNC:909 Entry Withdrawn AZF2 -HGNC:931 Merged/Split BA2R HGNC:11535|TAF1|Approved -HGNC:965 Merged/Split BBS HGNC:967|BBS2|Approved -HGNC:968 Merged/Split BBS3 HGNC:13210|ARL6|Approved -HGNC:972 Merged/Split BCAR2 HGNC:18273|TRERF1|Approved -HGNC:979 Merged/Split BCD1 HGNC:2235|KLF6|Approved -HGNC:980 Merged/Split BCEI HGNC:11755|TFF1|Approved -HGNC:981 Entry Withdrawn BCGF1 -HGNC:982 Merged/Split BCH HGNC:11825|NKX2-1|Approved -HGNC:984 Entry Withdrawn BCHEL1 -HGNC:985 Entry Withdrawn BCHEL3 -HGNC:988 Merged/Split BCL1 HGNC:1582|CCND1|Approved -HGNC:999 Merged/Split BCL4 HGNC:998|BCL3|Approved -HGNC:1000 Entry Withdrawn BCL5 -HGNC:1003 Merged/Split BCL7 HGNC:1004|BCL7A|Approved -HGNC:1009 Merged/Split BCMA HGNC:11913|TNFRSF17|Approved -HGNC:1010 Merged/Split BCNG1 HGNC:4845|HCN1|Approved -HGNC:1011 Merged/Split BCNG2 HGNC:4846|HCN2|Approved -HGNC:1013 Merged/Split BCPM HGNC:13211|ATP2C1|Approved -HGNC:1019 Merged/Split BCRL6 HGNC:1016|BCRP3|Approved -HGNC:1021 Merged/Split BCUR1 HGNC:6548|LDOC1|Approved -HGNC:1025 Merged/Split BDB HGNC:10257|ROR2|Approved -HGNC:1026 Merged/Split BDB1 HGNC:10257|ROR2|Approved -HGNC:1028 Merged/Split BDK HGNC:6383|KNG1|Approved -HGNC:1031 Entry Withdrawn BDM -HGNC:1032 Merged/Split BDMR HGNC:14063|HDAC4|Approved -HGNC:1035 Entry Withdrawn BEVI -HGNC:1038 Merged/Split BFD HGNC:1037|CFB|Approved -HGNC:1039 Merged/Split BFLS HGNC:18145|PHF6|Approved -HGNC:1042 Merged/Split BFT HGNC:9004|PITX1|Approved -HGNC:1045 Merged/Split BGP HGNC:1814|CEACAM1|Approved -HGNC:1056 Merged/Split BLIMP1 HGNC:9346|PRDM1|Approved -HGNC:1061 Merged/Split BLVR HGNC:1062|BLVRA|Approved -HGNC:1064 Entry Withdrawn BLYM -HGNC:1086 Merged/Split BNSP HGNC:11255|SPP1|Approved -HGNC:1088 Merged/Split BOR HGNC:3519|EYA1|Approved -HGNC:1089 Merged/Split BORJ HGNC:18145|PHF6|Approved -HGNC:1091 Merged/Split BPAG2 HGNC:2194|COL17A1|Approved -HGNC:1098 Entry Withdrawn BRAFPS1 -HGNC:1110 Merged/Split BRIC HGNC:3706|ATP8B1|Approved -HGNC:1111 Merged/Split BRN3B HGNC:9219|POU4F2|Approved -HGNC:1114 Merged/Split BSCL HGNC:325|AGPAT2|Approved -HGNC:1115 Merged/Split BSEP HGNC:42|ABCB11|Approved -HGNC:1124 Merged/Split BTEB2 HGNC:6349|KLF5|Approved -HGNC:1134 Merged/Split BTN HGNC:1135|BTN1A1|Approved -HGNC:1146 Merged/Split BTS HGNC:2074|CLN3|Approved -HGNC:1147 Entry Withdrawn BTS1 -HGNC:1150 Merged/Split BUB1L HGNC:1148|BUB1|Approved -HGNC:1154 Merged/Split BWS HGNC:1786|CDKN1C|Approved -HGNC:1155 Merged/Split BWSCR1A HGNC:10964|SLC22A18|Approved -HGNC:1156 Merged/Split BWSCR1B HGNC:10965|SLC22A18AS|Approved -HGNC:1159 Merged/Split BZS HGNC:9588|PTEN|Approved -HGNC:1175 Merged/Split C11orf3 HGNC:1172|VPS51|Approved -HGNC:1179 Merged/Split C11orf7 HGNC:11405|BRSK2|Approved -HGNC:1182 Merged/Split C12orf1 HGNC:7030|METTL1|Approved -HGNC:1194 Merged/Split C15orf6 HGNC:18140|RHCG|Approved -HGNC:1195 Merged/Split C16orf1 HGNC:17916|ZDHHC1|Approved -HGNC:1196 Merged/Split C16orf2 HGNC:7864|EMC8|Approved -HGNC:1198 Merged/Split C16orf4 HGNC:7864|EMC8|Approved -HGNC:1199 Merged/Split C16orf6 HGNC:29564|PHAF1|Approved -HGNC:1200 Merged/Split C17orf1 HGNC:1211|FBXW10|Approved -HGNC:1201 Entry Withdrawn C17orf10 -HGNC:1202 Entry Withdrawn C17orf11 -HGNC:1203 Entry Withdrawn C17orf12 -HGNC:1204 Entry Withdrawn C17orf13 -HGNC:1205 Entry Withdrawn C17orf14 -HGNC:1206 Entry Withdrawn C17orf15 -HGNC:1207 Entry Withdrawn C17orf16 -HGNC:1208 Entry Withdrawn C17orf17 -HGNC:1209 Entry Withdrawn C17orf18 -HGNC:1210 Entry Withdrawn C17orf19 -HGNC:1213 Entry Withdrawn C17orf2 -HGNC:1214 Entry Withdrawn C17orf20 -HGNC:1215 Entry Withdrawn C17orf21 -HGNC:1216 Entry Withdrawn C17orf22 -HGNC:1218 Entry Withdrawn C17orf4 -HGNC:1219 Entry Withdrawn C17orf5 -HGNC:1221 Entry Withdrawn C17orf7 -HGNC:1222 Entry Withdrawn C17orf8 -HGNC:1223 Entry Withdrawn C17orf9 -HGNC:1227 Entry Withdrawn C1HR -HGNC:1231 Merged/Split C1orf11 HGNC:15846|PALMD|Approved -HGNC:1234 Merged/Split C1orf3 HGNC:10565|SCAMP3|Approved -HGNC:1235 Merged/Split C1orf4 HGNC:11110|ARID1A|Approved -HGNC:1236 Entry Withdrawn C1orf5 -HGNC:1238 Merged/Split C1orf7 HGNC:16400|NLRP3|Approved -HGNC:1250 Merged/Split C20orf2 HGNC:1249|TPX2|Approved -HGNC:1251 Merged/Split C21orf1 HGNC:13524|PTTG1IP|Approved -HGNC:1252 Merged/Split C21orf10 HGNC:13082|LTN1|Approved -HGNC:1254 Entry Withdrawn C21orf12 -HGNC:1256 Merged/Split C21orf14 HGNC:16459|C21orf91|Approved -HGNC:1257 Merged/Split C21orf15 HGNC:2647|CYP4F29P|Approved -HGNC:1259 Merged/Split C21orf19 HGNC:23274|MEMO1P1|Approved -HGNC:1261 Entry Withdrawn NCRNA00098 -HGNC:1267 Merged/Split C21orf27 HGNC:1258|SETD4|Approved -HGNC:1269 Merged/Split C21orf3 HGNC:13524|PTTG1IP|Approved -HGNC:1270 Merged/Split LRRC3DN HGNC:14965|LRRC3|Approved -HGNC:1272 Entry Withdrawn C21orf32 -HGNC:1275 Merged/Split C21orf35 HGNC:1274|MIR99AHG|Approved -HGNC:1278 Merged/Split C21orf38 HGNC:16459|C21orf91|Approved -HGNC:1281 Entry Withdrawn C21orf40 -HGNC:1284 Merged/Split C21orf43 HGNC:14686|JAM2|Approved -HGNC:1287 Merged/Split C21orf46 HGNC:1286|MIS18A|Approved -HGNC:1289 Merged/Split C21orf48 HGNC:1301|CFAP298|Approved -HGNC:1292 Merged/Split C21orf50 HGNC:11183|SON|Approved -HGNC:1295 Entry Withdrawn C21orf53 -HGNC:1303 Merged/Split C21orf60 HGNC:2993|DONSON|Approved -HGNC:1311 Merged/Split C22orf6 HGNC:10699|SEC14L2|Approved -HGNC:1315 Merged/Split C2orf1 HGNC:14487|MRPL33|Approved -HGNC:1341 Merged/Split C6orf2 HGNC:1343|TRAF3IP2|Approved -HGNC:1342 Merged/Split TRAF3IP2-AS2 HGNC:40005|TRAF3IP2-AS1|Approved -HGNC:1344 Merged/Split C6orf5 HGNC:1343|TRAF3IP2|Approved -HGNC:1345 Merged/Split C6orf6 HGNC:1343|TRAF3IP2|Approved -HGNC:1347 Merged/Split C7orf1 HGNC:2045|CLDN3|Approved -HGNC:1351 Merged/Split C7orf8 HGNC:15679|CTTNBP2|Approved -HGNC:1360 Merged/Split C9orf2 HGNC:11866|TMEFF1|Approved -HGNC:1376 Merged/Split CA5 HGNC:1377|CA5A|Approved -HGNC:1387 Entry Withdrawn CACD -HGNC:1398 Merged/Split CACNA2 HGNC:1399|CACNA2D1|Approved -HGNC:1410 Merged/Split CACNL1A1 HGNC:1390|CACNA1C|Approved -HGNC:1411 Merged/Split CACNL1A2 HGNC:1391|CACNA1D|Approved -HGNC:1412 Merged/Split CACNL1A3 HGNC:1397|CACNA1S|Approved -HGNC:1413 Merged/Split CACNL1A4 HGNC:1388|CACNA1A|Approved -HGNC:1414 Merged/Split CACNL1A5 HGNC:1389|CACNA1B|Approved -HGNC:1415 Merged/Split CACNL1A6 HGNC:1392|CACNA1E|Approved -HGNC:1416 Merged/Split CACNL2A HGNC:1399|CACNA2D1|Approved -HGNC:1417 Merged/Split CACNLB1 HGNC:1401|CACNB1|Approved -HGNC:1418 Merged/Split CACNLB2 HGNC:1402|CACNB2|Approved -HGNC:1419 Merged/Split CACNLB3 HGNC:1403|CACNB3|Approved -HGNC:1420 Merged/Split CACP HGNC:9364|PRG4|Approved -HGNC:1423 Merged/Split CACY HGNC:10496|S100A6|Approved -HGNC:1425 Merged/Split CADASIL HGNC:7883|NOTCH3|Approved -HGNC:1427 Merged/Split CAE1 HGNC:4281|GJA8|Approved -HGNC:1428 Merged/Split CAE2 HGNC:2659|CZP2|Entry Withdrawn -HGNC:1429 Merged/Split CAGA HGNC:10498|S100A8|Approved -HGNC:1430 Merged/Split CAGB HGNC:10499|S100A9|Approved -HGNC:1431 Merged/Split CAK HGNC:2730|DDR1|Approved -HGNC:1432 Merged/Split CAL1H HGNC:537|ANXA2|Approved -HGNC:1433 Merged/Split CAL1L HGNC:10487|S100A10|Approved -HGNC:1450 Merged/Split CALML1 HGNC:1443|CALM1P1|Approved -HGNC:1451 Merged/Split CALML2 HGNC:1442|CALM1|Approved -HGNC:1453 Merged/Split CALNA HGNC:9314|PPP3CA|Approved -HGNC:1454 Merged/Split CALNB HGNC:9315|PPP3CB|Approved -HGNC:1456 Merged/Split CALS HGNC:1382|CA8|Approved -HGNC:1457 Merged/Split CALT HGNC:1867|CETN2|Approved -HGNC:1465 Merged/Split CAMKA HGNC:1460|CAMK2A|Approved -HGNC:1466 Merged/Split CAMKB HGNC:1461|CAMK2B|Approved -HGNC:1467 Merged/Split CAMKD HGNC:1462|CAMK2D|Approved -HGNC:1468 Merged/Split CAMKG HGNC:1463|CAMK2G|Approved -HGNC:1475 Merged/Split CAPL HGNC:10494|S100A4|Approved -HGNC:1495 Merged/Split CASA HGNC:2445|CSN1S1|Approved -HGNC:1496 Merged/Split CASB HGNC:2447|CSN2|Approved -HGNC:1518 Entry Withdrawn CATHL1L -HGNC:1524 Entry Withdrawn CATHLP -HGNC:1526 Merged/Split CAV HGNC:1527|CAV1|Approved -HGNC:1531 Merged/Split CBBM HGNC:4206|OPN1MW|Approved, HGNC:9936|OPN1LW|Approved -HGNC:1532 Merged/Split CBD HGNC:4206|OPN1MW|Approved -HGNC:1533 Merged/Split CBFA1 HGNC:10472|RUNX2|Approved -HGNC:1534 Merged/Split CBFA2 HGNC:10471|RUNX1|Approved -HGNC:1538 Merged/Split CBFA3 HGNC:10473|RUNX3|Approved -HGNC:1545 Merged/Split CBP HGNC:9936|OPN1LW|Approved -HGNC:1547 Merged/Split SERPINH2 HGNC:1546|SERPINH1|Approved -HGNC:1558 Merged/Split CCA HGNC:3604|FBN2|Approved -HGNC:1559 Entry Withdrawn CCA1 -HGNC:1560 Merged/Split CCA2 HGNC:2398|CRYBB2|Approved -HGNC:1561 Entry Withdrawn CCAL1 -HGNC:1562 Merged/Split CCAL2 HGNC:15492|ANKH|Approved -HGNC:1563 Merged/Split CCAT HGNC:4204|GCNT2|Approved -HGNC:1566 Entry Withdrawn CCD# -HGNC:1567 Merged/Split CCD1 HGNC:10472|RUNX2|Approved -HGNC:1572 Merged/Split CCL HGNC:2412|CRYGEP|Approved -HGNC:1574 Merged/Split C7orf22 HGNC:21708|CCM2|Approved -HGNC:1575 Merged/Split CCM3 HGNC:8761|PDCD10|Approved -HGNC:1576 Merged/Split CCNA HGNC:1578|CCNA2|Approved -HGNC:1588 Merged/Split CCNE HGNC:1589|CCNE1|Approved -HGNC:1597 Merged/Split CCNL1 HGNC:6944|MCM2|Approved -HGNC:1598 Merged/Split CCNM HGNC:20570|CCNL2|Approved -HGNC:1601 Merged/Split CCO HGNC:10483|RYR1|Approved -HGNC:1614 Entry Withdrawn CCT -HGNC:1619 Merged/Split CCT6 HGNC:1620|CCT6A|Approved -HGNC:1624 Entry Withdrawn CCV -HGNC:1626 Merged/Split CD11B HGNC:6149|ITGAM|Approved -HGNC:1627 Merged/Split CD13 HGNC:500|ANPEP|Approved -HGNC:1629 Merged/Split CD15 HGNC:4015|FUT4|Approved -HGNC:1640 Merged/Split CD20 HGNC:7315|MS4A1|Approved -HGNC:1642 Merged/Split CD20L HGNC:7317|MS4A3|Approved -HGNC:1644 Merged/Split CD23A HGNC:3612|FCER2|Approved -HGNC:1650 Merged/Split CD26 HGNC:3009|DPP4|Approved -HGNC:1652 Merged/Split CD27LG HGNC:11937|CD70|Approved -HGNC:1654 Merged/Split CD28LG1 HGNC:1700|CD80|Approved -HGNC:1655 Merged/Split CD28LG2 HGNC:1705|CD86|Approved -HGNC:1657 Merged/Split CD30 HGNC:11923|TNFRSF8|Approved -HGNC:1658 Merged/Split CD30LG HGNC:11938|TNFSF8|Approved -HGNC:1660 Merged/Split CD33L1 HGNC:10875|SIGLEC6|Approved -HGNC:1661 Merged/Split CD33L2 HGNC:10874|SIGLEC5|Approved -HGNC:1668 Merged/Split CD39 HGNC:3363|ENTPD1|Approved -HGNC:1669 Merged/Split CD39L1 HGNC:3364|ENTPD2|Approved -HGNC:1670 Merged/Split CD39L2 HGNC:3368|ENTPD6|Approved -HGNC:1671 Merged/Split CD39L3 HGNC:3365|ENTPD3|Approved -HGNC:1672 Merged/Split CD39L4 HGNC:3367|ENTPD5|Approved -HGNC:1676 Entry Withdrawn CD3W -HGNC:1679 Merged/Split TNFRSF5 HGNC:11919|CD40|Approved -HGNC:1680 Merged/Split TNFSF5 HGNC:11935|CD40LG|Approved -HGNC:1684 Merged/Split CD49B HGNC:6137|ITGA2|Approved -HGNC:1687 Merged/Split CD57 HGNC:921|B3GAT1|Approved -HGNC:1702 Merged/Split KAI1 HGNC:6210|CD82|Approved -HGNC:1710 Merged/Split CD94 HGNC:6378|KLRD1|Approved -HGNC:1714 Merged/Split CDAN2 HGNC:10702|SEC23B|Approved -HGNC:1715 Entry Withdrawn CDAN3 -HGNC:1716 Entry Withdrawn CDB2 -HGNC:1721 Merged/Split CDC18L HGNC:1744|CDC6|Approved -HGNC:1731 Merged/Split CDC2L3 HGNC:1730|CDK11A|Approved -HGNC:1732 Merged/Split CDC2L4 HGNC:1780|CDK9|Approved -HGNC:1740 Merged/Split CDC45L2 HGNC:1739|CDC45|Approved -HGNC:1741 Merged/Split CDC46 HGNC:6948|MCM5|Approved -HGNC:1746 Merged/Split CDCL1 HGNC:6944|MCM2|Approved -HGNC:1747 Merged/Split CDG1 HGNC:9115|PMM2|Approved -HGNC:1761 Merged/Split CDH21 HGNC:8699|PCDHGA12|Approved -HGNC:1783 Merged/Split CDKN1 HGNC:1784|CDKN1A|Approved -HGNC:1792 Entry Withdrawn CDL1 -HGNC:1793 Entry Withdrawn CDL2 -HGNC:1794 Merged/Split CDN1 HGNC:949|BAK1|Approved -HGNC:1796 Merged/Split CDPX1 HGNC:719|ARSL|Approved -HGNC:1797 Merged/Split CDPX2 HGNC:3133|EBP|Approved -HGNC:1803 Merged/Split CDSP HGNC:10969|SLC22A5|Approved -HGNC:1807 Merged/Split CDX3 HGNC:1806|CDX2|Approved -HGNC:1812 Entry Withdrawn CDYP -HGNC:1813 Merged/Split CEA HGNC:1817|CEACAM5|Approved -HGNC:1832 Merged/Split CEAL1 HGNC:31951|CEACAM19|Approved -HGNC:1853 Merged/Split CENPC HGNC:1855|CENPCP1|Approved -HGNC:1860 Entry Withdrawn CEPA -HGNC:1861 Entry Withdrawn CEPO -HGNC:1870 Merged/Split CF HGNC:1884|CFTR|Approved -HGNC:1871 Merged/Split CFAG HGNC:10498|S100A8|Approved, HGNC:10499|S100A9|Approved -HGNC:1872 Merged/Split CFD1 HGNC:3689|FGFR2|Approved -HGNC:1881 Entry Withdrawn CFM1 -HGNC:1882 Entry Withdrawn CFM2 -HGNC:1883 Merged/Split CFNS HGNC:3226|EFNB1|Approved -HGNC:1887 Entry Withdrawn CGF1 -HGNC:1889 Merged/Split CGM1 HGNC:1815|CEACAM3|Approved -HGNC:1890 Merged/Split CGM10 HGNC:1825|CEACAMP3|Approved -HGNC:1891 Merged/Split CGM11 HGNC:1826|CEACAMP4|Approved -HGNC:1892 Merged/Split CGM12 HGNC:1827|CEACAMP5|Approved -HGNC:1893 Merged/Split CGM13 HGNC:1828|CEACAMP6|Approved -HGNC:1894 Merged/Split CGM14 HGNC:1829|CEACAMP7|Approved -HGNC:1895 Merged/Split CGM15 HGNC:1830|CEACAMP8|Approved -HGNC:1896 Merged/Split CGM16 HGNC:1831|CEACAMP9|Approved -HGNC:1897 Merged/Split CGM17 HGNC:1822|CEACAMP10|Approved -HGNC:1898 Merged/Split CGM18 HGNC:1823|CEACAMP11|Approved -HGNC:1899 Merged/Split CGM2 HGNC:1819|CEACAM7|Approved -HGNC:1900 Merged/Split CGM6 HGNC:1820|CEACAM8|Approved -HGNC:1901 Merged/Split CGM7 HGNC:1816|CEACAM4|Approved -HGNC:1902 Merged/Split CGM8 HGNC:1821|CEACAMP1|Approved -HGNC:1903 Merged/Split CGM9 HGNC:1824|CEACAMP2|Approved -HGNC:1905 Merged/Split CGS23 HGNC:10864|ST3GAL4|Approved -HGNC:1906 Merged/Split CGT HGNC:12555|UGT8|Approved -HGNC:1920 Merged/Split CHDR HGNC:387|AKR1C4|Approved -HGNC:1921 Merged/Split CHE1 HGNC:983|BCHE|Approved -HGNC:1922 Merged/Split CHE2 HGNC:983|BCHE|Approved -HGNC:1923 Merged/Split CHED1 HGNC:15804|OVOL2|Approved -HGNC:1924 Merged/Split CHED2 HGNC:16438|SLC4A11|Approved -HGNC:1926 Merged/Split CHEL1 HGNC:984|BCHEL1|Entry Withdrawn -HGNC:1927 Merged/Split CHEL3 HGNC:985|BCHEL3|Entry Withdrawn -HGNC:1931 Merged/Split CHH HGNC:10031|RMRP|Approved -HGNC:1942 Merged/Split CHN HGNC:1943|CHN1|Approved -HGNC:1945 Entry Withdrawn CHR -HGNC:1946 Merged/Split CHR39A HGNC:3632|FDPSP1|Approved -HGNC:1947 Merged/Split CHR39B HGNC:3635|FDPSP4|Approved -HGNC:1948 Merged/Split CHR39C HGNC:3636|FDPSP5|Approved -HGNC:1978 Merged/Split CIDX HGNC:6010|IL2RG|Approved -HGNC:1979 Merged/Split CILD2 HGNC:30492|DNAAF3|Approved -HGNC:1981 Entry Withdrawn CIPO -HGNC:1988 Merged/Split CJD HGNC:9449|PRNP|Approved -HGNC:1992 Entry Withdrawn CKBE -HGNC:1997 Merged/Split CKN1 HGNC:3439|ERCC8|Approved -HGNC:1998 Merged/Split CKN2 HGNC:3438|ERCC6|Approved -HGNC:2002 Merged/Split SCAR2 HGNC:18667|PMPCA|Approved -HGNC:2003 Merged/Split SCAX1 HGNC:816|ATP2B3|Approved -HGNC:2004 Entry Withdrawn CLA3 -HGNC:2005 Merged/Split CLAPA1 HGNC:561|AP2A1|Approved -HGNC:2006 Merged/Split CLAPA2 HGNC:562|AP2A2|Approved -HGNC:2007 Merged/Split CLAPB1 HGNC:563|AP2B1|Approved -HGNC:2008 Merged/Split CLAPB2 HGNC:554|AP1B1|Approved -HGNC:2009 Merged/Split CLAPG1 HGNC:555|AP1G1|Approved -HGNC:2010 Merged/Split CLAPM1 HGNC:564|AP2M1|Approved -HGNC:2011 Merged/Split CLAPS1 HGNC:559|AP1S1|Approved -HGNC:2012 Merged/Split CLAPS2 HGNC:565|AP2S1|Approved -HGNC:2028 Merged/Split CLCNL1 HGNC:2062|CLIC1|Approved -HGNC:2029 Merged/Split CLCNL2 HGNC:2063|CLIC2|Approved -HGNC:2030 Merged/Split CLCS HGNC:40|ABCB1|Approved -HGNC:2031 Merged/Split CLD HGNC:3018|SLC26A3|Approved -HGNC:2043 Merged/Split CLDN21 HGNC:37200|CLDN24|Approved -HGNC:2055 Merged/Split CLG HGNC:7155|MMP1|Approved -HGNC:2056 Merged/Split CLG1 HGNC:7175|MMP8|Approved -HGNC:2057 Merged/Split CLG4A HGNC:7166|MMP2|Approved -HGNC:2058 Merged/Split CLG4B HGNC:7176|MMP9|Approved -HGNC:2059 Merged/Split CLGI HGNC:11820|TIMP1|Approved -HGNC:2061 Merged/Split CLI HGNC:2095|CLU|Approved -HGNC:2066 Merged/Split CLIC1L HGNC:2065|CLIC6|Approved -HGNC:2072 Merged/Split CLM HGNC:6486|LAMB1|Approved -HGNC:2075 Merged/Split CLN4 HGNC:16235|DNAJC5|Approved -HGNC:2078 Merged/Split CLN7 HGNC:28486|MFSD8|Approved -HGNC:2083 Merged/Split CLPA HGNC:11600|TBX22|Approved -HGNC:2089 Merged/Split CLS HGNC:10432|RPS6KA3|Approved -HGNC:2094 Merged/Split CLTCL2 HGNC:2092|CLTC|Approved -HGNC:2099 Merged/Split CMAR HGNC:11237|SPG7|Approved -HGNC:2100 Merged/Split CMD1 HGNC:11204|SOX9|Approved -HGNC:2101 Merged/Split CMD1A HGNC:6636|LMNA|Approved -HGNC:2102 Entry Withdrawn CMD1B -HGNC:2103 Merged/Split CMD1C HGNC:15710|LDB3|Approved -HGNC:2104 Merged/Split CMD1D HGNC:11949|TNNT2|Approved -HGNC:2105 Merged/Split CMD1E HGNC:10593|SCN5A|Approved -HGNC:2106 Entry Withdrawn CMD1F -HGNC:2107 Merged/Split CMD1G HGNC:12403|TTN|Approved -HGNC:2108 Entry Withdrawn CMD1H -HGNC:2109 Merged/Split CMD1J HGNC:3522|EYA4|Approved -HGNC:2110 Merged/Split CMD2A HGNC:11947|TNNI3|Approved -HGNC:2111 Merged/Split CMD3A HGNC:11577|TAFAZZIN|Approved -HGNC:2112 Merged/Split CMDJ HGNC:15492|ANKH|Approved -HGNC:2113 Merged/Split CMH1 HGNC:7577|MYH7|Approved -HGNC:2114 Merged/Split CMH2 HGNC:11949|TNNT2|Approved -HGNC:2115 Merged/Split CMH3 HGNC:12010|TPM1|Approved -HGNC:2116 Merged/Split CMH4 HGNC:7551|MYBPC3|Approved -HGNC:2117 Merged/Split CMK HGNC:7098|CXCL9|Approved -HGNC:2118 Merged/Split CMKAR1 HGNC:6026|CXCR1|Approved -HGNC:2119 Merged/Split CMKBR9 HGNC:1565|ACKR2|Approved -HGNC:2120 Merged/Split CMKBRL1 HGNC:2558|CX3CR1|Approved -HGNC:2122 Merged/Split CMKRL1 HGNC:6713|LTB4R|Approved -HGNC:2123 Merged/Split CMKRL2 HGNC:4485|GPER1|Approved -HGNC:2124 Entry Withdrawn CMM -HGNC:2125 Merged/Split CMOAT HGNC:53|ABCC2|Approved -HGNC:2126 Entry Withdrawn CMR1A -HGNC:2127 Entry Withdrawn CMR2A -HGNC:2128 Entry Withdrawn CMR3A -HGNC:2129 Merged/Split CMT1A HGNC:9118|PMP22|Approved -HGNC:2130 Merged/Split CMT1B HGNC:7225|MPZ|Approved -HGNC:2131 Merged/Split CMT2A HGNC:16636|KIF1B|Approved -HGNC:2132 Merged/Split CMT2B HGNC:9788|RAB7A|Approved -HGNC:2133 Merged/Split CMT4A HGNC:15968|GDAP1|Approved -HGNC:2134 Merged/Split CMT4B HGNC:7450|MTMR2|Approved -HGNC:2136 Merged/Split CMTX1 HGNC:4283|GJB1|Approved -HGNC:2137 Entry Withdrawn CMTX2 -HGNC:2138 Entry Withdrawn CMTX3 -HGNC:2139 Entry Withdrawn CNA1 -HGNC:2140 Merged/Split CNA2 HGNC:6309|KERA|Approved -HGNC:2141 Entry Withdrawn CNC2 -HGNC:2142 Merged/Split CNCA1 HGNC:2149|CNGA2|Approved -HGNC:2143 Merged/Split CNCA2 HGNC:2152|CNGA4|Approved -HGNC:2144 Merged/Split CNCG1 HGNC:2148|CNGA1|Approved -HGNC:2145 Merged/Split CNCG2 HGNC:2151|CNGB1|Approved -HGNC:2146 Merged/Split CNCG3 HGNC:2150|CNGA3|Approved -HGNC:2147 Merged/Split CNCG3L HGNC:2151|CNGB1|Approved -HGNC:2161 Merged/Split CNRS1 HGNC:8662|PCDHA@|Approved -HGNC:2162 Merged/Split CNRS2 HGNC:8672|PCDHA6|Approved -HGNC:2164 Merged/Split CNRS4 HGNC:8673|PCDHA7|Approved -HGNC:2165 Merged/Split CNRS5 HGNC:8667|PCDHA13|Approved -HGNC:2166 Merged/Split CNRS6 HGNC:8671|PCDHA5|Approved -HGNC:2167 Merged/Split CNRS7 HGNC:8665|PCDHA11|Approved -HGNC:2168 Merged/Split CNRS8 HGNC:8664|PCDHA10|Approved -HGNC:2177 Merged/Split CO HGNC:633|AQP1|Approved -HGNC:2178 Merged/Split COCA1 HGNC:7325|MSH2|Approved -HGNC:2179 Merged/Split COCA2 HGNC:7127|MLH1|Approved -HGNC:2181 Merged/Split COD1 HGNC:10295|RPGR|Approved -HGNC:2182 Entry Withdrawn COD2 -HGNC:2189 Merged/Split COL12A1L HGNC:2188|COL12A1|Approved -HGNC:2224 Merged/Split COLL6 HGNC:2186|COL11A1|Approved -HGNC:2225 Entry Withdrawn COLOT1 -HGNC:2229 Entry Withdrawn COP -HGNC:2233 Merged/Split COPD HGNC:649|ARCN1|Approved -HGNC:2241 Merged/Split COPT1 HGNC:11016|SLC31A1|Approved -HGNC:2242 Merged/Split COPT2 HGNC:11017|SLC31A2|Approved -HGNC:2245 Entry Withdrawn CORD1 -HGNC:2246 Merged/Split CORD2 HGNC:2383|CRX|Approved -HGNC:2247 Entry Withdrawn CORD4 -HGNC:2248 Merged/Split CORD5 HGNC:21043|PITPNM3|Approved -HGNC:2249 Merged/Split CORD6 HGNC:4689|GUCY2D|Approved -HGNC:2250 Merged/Split CORD7 HGNC:17282|RIMS1|Approved -HGNC:2251 Entry Withdrawn CORD8 -HGNC:2258 Merged/Split COT HGNC:6860|MAP3K8|Approved -HGNC:2302 Merged/Split CPD1 HGNC:2004|CLA3|Entry Withdrawn -HGNC:2304 Merged/Split CPETR HGNC:2046|CLDN4|Approved -HGNC:2305 Merged/Split CPETR1 HGNC:2046|CLDN4|Approved -HGNC:2306 Merged/Split CPETR2 HGNC:2045|CLDN3|Approved -HGNC:2307 Merged/Split CPETRL2 HGNC:2049|CLDN7|Approved -HGNC:2308 Entry Withdrawn CPL1 -HGNC:2331 Merged/Split CPX HGNC:11600|TBX22|Approved -HGNC:2337 Merged/Split CR3A HGNC:6149|ITGAM|Approved -HGNC:2341 Merged/Split CRARF HGNC:6901|MASP1|Approved -HGNC:2344 Merged/Split CRD HGNC:10295|RPGR|Approved -HGNC:2346 Merged/Split CREB2 HGNC:784|ATF2|Approved -HGNC:2353 Merged/Split CRFB4 HGNC:5965|IL10RB|Approved -HGNC:2354 Merged/Split CRG HGNC:20626|CHD7|Approved -HGNC:2369 Merged/Split CRS HGNC:12428|TWIST1|Approved -HGNC:2373 Merged/Split CRSP4 HGNC:22963|MED24|Approved -HGNC:2381 Entry Withdrawn CRTL2 -HGNC:2382 Merged/Split CRTM HGNC:6907|MATN1|Approved -HGNC:2386 Merged/Split CRYA1 HGNC:2388|CRYAA|Approved -HGNC:2387 Merged/Split CRYA2 HGNC:2389|CRYAB|Approved -HGNC:2390 Merged/Split CRYB1 HGNC:2394|CRYBA1|Approved -HGNC:2391 Merged/Split CRYB2A HGNC:2398|CRYBB2|Approved -HGNC:2392 Merged/Split CRYB2B HGNC:2399|CRYBB2P1|Approved -HGNC:2393 Merged/Split CRYB3 HGNC:2400|CRYBB3|Approved -HGNC:2401 Merged/Split CRYG1 HGNC:2408|CRYGA|Approved -HGNC:2402 Merged/Split CRYG2 HGNC:2409|CRYGB|Approved -HGNC:2403 Merged/Split CRYG3 HGNC:2410|CRYGC|Approved -HGNC:2404 Merged/Split CRYG4 HGNC:2411|CRYGD|Approved -HGNC:2405 Merged/Split CRYG5 HGNC:2412|CRYGEP|Approved -HGNC:2406 Merged/Split CRYG6 HGNC:2413|CRYGFP|Approved -HGNC:2407 Merged/Split CRYG8 HGNC:2417|CRYGS|Approved -HGNC:2415 Entry Withdrawn CRYGP1 -HGNC:2416 Entry Withdrawn CRYGP2 -HGNC:2423 Merged/Split CSBP1 HGNC:6876|MAPK14|Approved -HGNC:2424 Merged/Split CSBP2 HGNC:6876|MAPK14|Approved -HGNC:2425 Merged/Split CSD1 HGNC:11771|TGFBI|Approved -HGNC:2426 Merged/Split CSD2 HGNC:11771|TGFBI|Approved -HGNC:2427 Merged/Split CSD3 HGNC:11771|TGFBI|Approved -HGNC:2430 Merged/Split CSE HGNC:11005|SLC2A1|Approved -HGNC:2443 Merged/Split CSHP1 HGNC:2442|CSHL1|Approved -HGNC:2448 Merged/Split CSNB1 HGNC:8082|NYX|Approved -HGNC:2449 Merged/Split CSNB2 HGNC:1393|CACNA1F|Approved -HGNC:2450 Merged/Split CSNB4 HGNC:8082|NYX|Approved -HGNC:2461 Merged/Split CSNU3 HGNC:11067|SLC7A9|Approved -HGNC:2462 Merged/Split CSPB HGNC:4709|GZMB|Approved -HGNC:2463 Merged/Split CSPG1 HGNC:319|ACAN|Approved -HGNC:2489 Entry Withdrawn CTAA1 -HGNC:2490 Entry Withdrawn CTAA2 -HGNC:2493 Merged/Split CTB HGNC:2496|CTBS|Approved -HGNC:2497 Entry Withdrawn CTD -HGNC:2502 Entry Withdrawn CTHM -HGNC:2503 Merged/Split CTLA1 HGNC:4709|GZMB|Approved -HGNC:2504 Merged/Split CTLA3 HGNC:4708|GZMA|Approved -HGNC:2506 Merged/Split CTLA8 HGNC:5981|IL17A|Approved -HGNC:2507 Merged/Split CTLN2 HGNC:10983|SLC25A13|Approved -HGNC:2508 Merged/Split CTM HGNC:5227|HSF4|Approved -HGNC:2517 Merged/Split CTNNG HGNC:6207|JUP|Approved -HGNC:2525 Merged/Split CTRN2 HGNC:168|ACTR1B|Approved -HGNC:2526 Merged/Split CTS1 HGNC:12405|TTR|Approved -HGNC:2533 Merged/Split CTSGL1 HGNC:4709|GZMB|Approved -HGNC:2534 Merged/Split CTSGL2 HGNC:4710|GZMH|Approved -HGNC:2543 Merged/Split CTSO1 HGNC:2542|CTSO|Approved -HGNC:2544 Merged/Split CTSO2 HGNC:2536|CTSK|Approved -HGNC:2560 Entry Withdrawn CXB3S -HGNC:2562 Merged/Split TMEM257 HGNC:13449|SLITRK2|Approved -HGNC:2564 Merged/Split CXorf3 HGNC:19073|THOC2|Approved -HGNC:2565 Merged/Split CXorf4 HGNC:2370|MED14|Approved -HGNC:2566 Merged/Split CXorf4P HGNC:2371|MED14P1|Approved -HGNC:2572 Entry Withdrawn CYB5AP1 -HGNC:2585 Merged/Split CYLD1 HGNC:2584|CYLD|Approved -HGNC:2587 Entry Withdrawn CYMD -HGNC:2598 Merged/Split CYP21 HGNC:2600|CYP21A2|Approved -HGNC:2601 Merged/Split CYP21P HGNC:2599|CYP21A1P|Approved -HGNC:2604 Merged/Split CYP27 HGNC:2605|CYP27A1|Approved -HGNC:2607 Entry Withdrawn CYP2A -HGNC:2609 Merged/Split CYP2A3 HGNC:2610|CYP2A6|Approved -HGNC:2614 Merged/Split CYP2B HGNC:2615|CYP2B6|Approved -HGNC:2617 Merged/Split CYP2C HGNC:2621|CYP2C19|Approved -HGNC:2618 Merged/Split CYP2C10 HGNC:2623|CYP2C9|Approved -HGNC:2619 Merged/Split CYP2C17 HGNC:2620|CYP2C18|Approved -HGNC:2626 Merged/Split CYP2D8P2 HGNC:2625|CYP2D6|Approved -HGNC:2627 Merged/Split CYP2D7P2 HGNC:2625|CYP2D6|Approved -HGNC:2629 Merged/Split CYP2DL1 HGNC:2625|CYP2D6|Approved -HGNC:2630 Merged/Split CYP2DP1 HGNC:2628|CYP2D8P|Approved -HGNC:2635 Entry Withdrawn CYP3A -HGNC:2636 Merged/Split CYP3A3 HGNC:2637|CYP3A4|Approved -HGNC:2639 Merged/Split CYP3A5P1 HGNC:42418|CYP3A51P|Approved -HGNC:2643 Merged/Split CYP4A2 HGNC:2642|CYP4A11|Approved -HGNC:2650 Merged/Split CYP7 HGNC:2651|CYP7A1|Approved -HGNC:2655 Merged/Split CYRN1 HGNC:209|ADAM3A|Approved -HGNC:2656 Merged/Split CYRN2 HGNC:210|ADAM3B|Approved -HGNC:2657 Merged/Split CYRP HGNC:2469|CSRP1|Approved -HGNC:2658 Merged/Split CZP1 HGNC:4281|GJA8|Approved -HGNC:2659 Entry Withdrawn CZP2 -HGNC:2660 Merged/Split CZP3 HGNC:4277|GJA3|Approved -HGNC:2667 Merged/Split DAGK1 HGNC:2849|DGKA|Approved -HGNC:2668 Merged/Split DAGK2 HGNC:2850|DGKB|Approved -HGNC:2669 Merged/Split DAGK3 HGNC:2853|DGKG|Approved -HGNC:2670 Merged/Split DAGK4 HGNC:2856|DGKQ|Approved -HGNC:2677 Merged/Split DAR HGNC:812|ATP2A2|Approved -HGNC:2679 Merged/Split DAT1 HGNC:11049|SLC6A3|Approved -HGNC:2686 Merged/Split DAZLA HGNC:2685|DAZL|Approved -HGNC:2688 Merged/Split DBCCR1 HGNC:2687|BRINP1|Approved -HGNC:2693 Entry Withdrawn DBIL3 -HGNC:2694 Entry Withdrawn DBIL4 -HGNC:2702 Merged/Split DCE HGNC:2859|DHCR24|Approved -HGNC:2706 Merged/Split DCOH HGNC:8646|PCBD1|Approved -HGNC:2722 Merged/Split DDH1 HGNC:384|AKR1C1|Approved -HGNC:2723 Merged/Split DDH2 HGNC:385|AKR1C2|Approved -HGNC:2724 Merged/Split DDIT1 HGNC:4095|GADD45A|Approved -HGNC:2729 Merged/Split DDPAC HGNC:6893|MAPT|Approved -HGNC:2733 Entry Withdrawn DDU -HGNC:2748 Entry Withdrawn DDX7 -HGNC:2756 Merged/Split DEF1 HGNC:2761|DEFA1|Approved -HGNC:2757 Merged/Split DEF3 HGNC:2762|DEFA3|Approved -HGNC:2758 Merged/Split DEF4 HGNC:2763|DEFA4|Approved -HGNC:2759 Merged/Split DEF5 HGNC:2764|DEFA5|Approved -HGNC:2774 Merged/Split DFN1 HGNC:11817|TIMM8A|Approved -HGNC:2775 Merged/Split DFN2 HGNC:9462|PRPS1|Approved -HGNC:2776 Merged/Split DFN3 HGNC:9217|POU3F4|Approved -HGNC:2777 Entry Withdrawn DFNX3 -HGNC:2778 Entry Withdrawn DFN5 -HGNC:2779 Merged/Split DFN6 HGNC:11122|SMPX|Approved -HGNC:2780 Entry Withdrawn DFN7 -HGNC:2781 Entry Withdrawn DFN8 -HGNC:2782 Merged/Split DFNA1 HGNC:2876|DIAPH1|Approved -HGNC:2783 Merged/Split DFNA10 HGNC:3522|EYA4|Approved -HGNC:2784 Merged/Split DFNA11 HGNC:7606|MYO7A|Approved -HGNC:2785 Merged/Split DFNA12 HGNC:11720|TECTA|Approved -HGNC:2786 Merged/Split DFNA13 HGNC:2187|COL11A2|Approved -HGNC:2787 Merged/Split DFNA14 HGNC:12762|WFS1|Approved -HGNC:2788 Merged/Split DFNA15 HGNC:9220|POU4F3|Approved -HGNC:2789 Entry Withdrawn DFNA16 -HGNC:2790 Merged/Split DFNA17 HGNC:7579|MYH9|Approved -HGNC:2791 Entry Withdrawn DFNA19 -HGNC:2792 Merged/Split DFNA2 HGNC:4285|GJB3|Approved, HGNC:6298|KCNQ4|Approved -HGNC:2793 Merged/Split DFNA20 HGNC:144|ACTG1|Approved -HGNC:2794 Entry Withdrawn DFNA21 -HGNC:2795 Merged/Split DFNA23 HGNC:10887|SIX1|Approved -HGNC:2796 Entry Withdrawn DFNA24 -HGNC:2797 Merged/Split DFNA26 HGNC:144|ACTG1|Approved -HGNC:2798 Merged/Split DFNA27 HGNC:9966|REST|Approved -HGNC:2800 Entry Withdrawn DFNA29 -HGNC:2801 Merged/Split DFNA3 HGNC:4284|GJB2|Approved, HGNC:4288|GJB6|Approved -HGNC:2802 Entry Withdrawn DFNA30 -HGNC:2803 Entry Withdrawn DFNA31 -HGNC:2804 Entry Withdrawn DFNA32 -HGNC:2805 Entry Withdrawn DFNA33 -HGNC:2806 Merged/Split DFNA34 HGNC:16400|NLRP3|Approved -HGNC:2807 Entry Withdrawn DFNA35 -HGNC:2808 Merged/Split DFNA36 HGNC:16513|TMC1|Approved -HGNC:2809 Merged/Split DFNA4 HGNC:23212|MYH14|Approved -HGNC:2811 Merged/Split DFNA6 HGNC:12762|WFS1|Approved -HGNC:2812 Entry Withdrawn DFNA7 -HGNC:2813 Merged/Split DFNA8 HGNC:11720|TECTA|Approved -HGNC:2814 Merged/Split DFNA9 HGNC:2180|COCH|Approved -HGNC:2815 Merged/Split DFNB1 HGNC:4284|GJB2|Approved -HGNC:2816 Merged/Split DFNB10 HGNC:11877|TMPRSS3|Approved -HGNC:2817 Merged/Split DFNB11 HGNC:16513|TMC1|Approved -HGNC:2818 Merged/Split DFNB12 HGNC:13733|CDH23|Approved -HGNC:2819 Entry Withdrawn DFNB13 -HGNC:2820 Entry Withdrawn DFNB14 -HGNC:2821 Merged/Split DFNB15 HGNC:18183|GIPC3|Approved -HGNC:2822 Merged/Split DFNB16 HGNC:16035|STRC|Approved -HGNC:2823 Entry Withdrawn DFNB17 -HGNC:2824 Merged/Split DFNB18 HGNC:12597|USH1C|Approved -HGNC:2825 Entry Withdrawn DFNB19 -HGNC:2826 Merged/Split DFNB2 HGNC:7606|MYO7A|Approved -HGNC:2827 Entry Withdrawn DFNB20 -HGNC:2828 Merged/Split DFNB21 HGNC:11720|TECTA|Approved -HGNC:2829 Merged/Split DFNB23 HGNC:14674|PCDH15|Approved -HGNC:2830 Merged/Split DFNB24 HGNC:9944|RDX|Approved -HGNC:2831 Merged/Split DFNB25 HGNC:31673|GRXCR1|Approved -HGNC:2832 Merged/Split DFNB26 HGNC:4066|GAB1|Approved -HGNC:2833 Entry Withdrawn DFNB27 -HGNC:2834 Merged/Split DFNB28 HGNC:17009|TRIOBP|Approved -HGNC:2835 Merged/Split DFNB3 HGNC:7594|MYO15A|Approved -HGNC:2836 Merged/Split DFNB4 HGNC:8818|SLC26A4|Approved -HGNC:2837 Entry Withdrawn DFNB5 -HGNC:2838 Merged/Split DFNB6 HGNC:30800|TMIE|Approved -HGNC:2839 Merged/Split DFNB7 HGNC:16513|TMC1|Approved -HGNC:2840 Merged/Split DFNB8 HGNC:11877|TMPRSS3|Approved -HGNC:2841 Merged/Split DFNB9 HGNC:8515|OTOF|Approved -HGNC:2842 Merged/Split DFNM1 HGNC:24248|METTL13|Approved -HGNC:2848 Merged/Split DGI1 HGNC:3054|DSPP|Approved -HGNC:2864 Merged/Split DHFRP4 HGNC:27309|DHFR2|Approved -HGNC:2866 Merged/Split DHLAG HGNC:1697|CD74|Approved -HGNC:2868 Merged/Split DHOF HGNC:17652|PORCN|Approved -HGNC:2870 Merged/Split DHRD HGNC:3218|EFEMP1|Approved -HGNC:2871 Merged/Split DHTR HGNC:644|AR|Approved -HGNC:2872 Merged/Split DI HGNC:11027|SLC4A1|Approved -HGNC:2875 Entry Withdrawn DIANPH -HGNC:2878 Merged/Split DIC HGNC:10980|SLC25A10|Approved -HGNC:2880 Entry Withdrawn DIFF6L -HGNC:2881 Entry Withdrawn DIH1 -HGNC:2882 Merged/Split DINB1 HGNC:9183|POLK|Approved -HGNC:2886 Merged/Split DIR HGNC:897|AVPR2|Approved -HGNC:2887 Merged/Split DIR3 HGNC:897|AVPR2|Approved -HGNC:2913 Merged/Split DLTA HGNC:2896|DLAT|Approved -HGNC:2920 Merged/Split DLX7 HGNC:2917|DLX4|Approved -HGNC:2921 Merged/Split DLX9 HGNC:2917|DLX4|Approved -HGNC:2922 Merged/Split DM HGNC:2933|DMPK|Approved -HGNC:2923 Merged/Split DM1 HGNC:2933|DMPK|Approved -HGNC:2924 Merged/Split DM2 HGNC:13164|CNBP|Approved -HGNC:2925 Merged/Split DMAHP HGNC:10891|SIX5|Approved -HGNC:2929 Merged/Split DMDA1 HGNC:10809|SGCG|Approved -HGNC:2930 Merged/Split DMDL HGNC:12635|UTRN|Approved -HGNC:2931 Merged/Split DMGDHL1 HGNC:10536|SARDH|Approved -HGNC:2944 Entry Withdrawn DNAH13 -HGNC:2947 Merged/Split DNAH17L HGNC:2953|DNAH9|Approved -HGNC:2965 Merged/Split DNCL HGNC:2961|DYNC1H1|Approved -HGNC:2967 Entry Withdrawn DNCM -HGNC:2968 Merged/Split DNECL HGNC:2961|DYNC1H1|Approved -HGNC:2969 Merged/Split DNL1 HGNC:2956|DNASE1|Approved -HGNC:2970 Merged/Split DNL1L HGNC:2957|DNASE1L1|Approved -HGNC:2971 Merged/Split DNL2 HGNC:2960|DNASE2|Approved -HGNC:2975 Merged/Split DNMT HGNC:2976|DNMT1|Approved -HGNC:2982 Merged/Split DNS HGNC:2124|CMM|Entry Withdrawn -HGNC:2984 Merged/Split DO HGNC:726|ART4|Approved -HGNC:2994 Merged/Split DPAGT HGNC:2995|DPAGT1|Approved -HGNC:2996 Merged/Split DPAGT2 HGNC:2995|DPAGT1|Approved -HGNC:2997 Merged/Split DPD1 HGNC:11766|TGFB1|Approved -HGNC:2998 Merged/Split DPDE1 HGNC:8782|PDE4C|Approved -HGNC:2999 Merged/Split DPDE2 HGNC:8780|PDE4A|Approved -HGNC:3000 Merged/Split DPDE3 HGNC:8783|PDE4D|Approved -HGNC:3001 Merged/Split DPDE4 HGNC:8781|PDE4B|Approved -HGNC:3021 Entry Withdrawn DRD1L1 -HGNC:3022 Merged/Split DRD1L2 HGNC:3026|DRD5|Approved -HGNC:3034 Merged/Split DRT HGNC:3393|EPHB2|Approved -HGNC:3038 Merged/Split DSC4 HGNC:3037|DSC3|Approved -HGNC:3055 Merged/Split DSS HGNC:7960|NR0B1|Approved -HGNC:3056 Merged/Split DTD HGNC:10994|SLC26A2|Approved -HGNC:3063 Entry Withdrawn DURS1 -HGNC:3077 Merged/Split DUSP8P3 HGNC:3075|DUSP8P1|Approved -HGNC:3080 Merged/Split DUX2 HGNC:38670|DUX4L8|Approved -HGNC:3088 Entry Withdrawn DWS -HGNC:3089 Merged/Split DYRK HGNC:3091|DYRK1A|Approved -HGNC:3090 Merged/Split DYRK1 HGNC:3091|DYRK1A|Approved -HGNC:3096 Merged/Split DYS HGNC:5959|ELP1|Approved -HGNC:3099 Merged/Split DYT11 HGNC:10808|SGCE|Approved -HGNC:3100 Merged/Split DYT12 HGNC:801|ATP1A3|Approved -HGNC:3101 Entry Withdrawn DYT13 -HGNC:3102 Merged/Split DYT2 HGNC:5144|HPCA|Approved -HGNC:3103 Merged/Split DYT3 HGNC:11535|TAF1|Approved -HGNC:3104 Merged/Split DYT4 HGNC:20774|TUBB4A|Approved -HGNC:3105 Merged/Split DYT5 HGNC:4193|GCH1|Approved -HGNC:3106 Merged/Split DYT6 HGNC:20856|THAP1|Approved -HGNC:3107 Entry Withdrawn DYT7 -HGNC:3108 Entry Withdrawn DYX1 -HGNC:3109 Entry Withdrawn DYX2 -HGNC:3110 Entry Withdrawn DYX3 -HGNC:3111 Entry Withdrawn DYX4 -HGNC:3112 Entry Withdrawn E11S -HGNC:3124 Merged/Split EBD1 HGNC:2214|COL7A1|Approved -HGNC:3125 Merged/Split EBDCT HGNC:2214|COL7A1|Approved -HGNC:3127 Merged/Split EBI1 HGNC:1608|CCR7|Approved -HGNC:3130 Entry Withdrawn EBM -HGNC:3131 Merged/Split EBN1 HGNC:6296|KCNQ2|Approved, HGNC:1958|CHRNA4|Approved -HGNC:3132 Merged/Split EBN2 HGNC:6297|KCNQ3|Approved -HGNC:3134 Merged/Split EBR1 HGNC:2214|COL7A1|Approved -HGNC:3135 Merged/Split EBR2A HGNC:6493|LAMC2|Approved -HGNC:3136 Entry Withdrawn EBR3 -HGNC:3137 Entry Withdrawn EBR4 -HGNC:3138 Merged/Split EBS1 HGNC:9069|PLEC|Approved -HGNC:3139 Merged/Split EBS2 HGNC:6442|KRT5|Approved -HGNC:3140 Merged/Split EBS3 HGNC:6416|KRT14|Approved -HGNC:3141 Merged/Split EBS4 HGNC:6416|KRT14|Approved -HGNC:3144 Entry Withdrawn ECA1 -HGNC:3150 Merged/Split ECHD HGNC:3247|EHHADH|Approved -HGNC:3152 Merged/Split ECK HGNC:3386|EPHA2|Approved -HGNC:3156 Entry Withdrawn ED# -HGNC:3158 Merged/Split ED2 HGNC:4288|GJB6|Approved -HGNC:3159 Merged/Split ED3 HGNC:2895|EDAR|Approved -HGNC:3160 Merged/Split ED4 HGNC:9706|NECTIN1|Approved -HGNC:3161 Merged/Split ED1 HGNC:3157|EDA|Approved -HGNC:3162 Merged/Split EDA2 HGNC:3157|EDA|Approved -HGNC:3163 Merged/Split EDDR1 HGNC:2730|DDR1|Approved -HGNC:3171 Merged/Split EDH17B1 HGNC:5216|HSD17B1P1|Approved -HGNC:3172 Merged/Split EDH17B2 HGNC:5210|HSD17B1|Approved -HGNC:3174 Merged/Split EDM1 HGNC:2227|COMP|Approved -HGNC:3175 Merged/Split EDM2 HGNC:2218|COL9A2|Approved -HGNC:3181 Merged/Split EDP1 HGNC:11894|TNFAIP1|Approved -HGNC:3184 Merged/Split EDS4A HGNC:2201|COL3A1|Approved -HGNC:3186 Entry Withdrawn EEC1 -HGNC:3187 Entry Withdrawn EEC2 -HGNC:3190 Entry Withdrawn EEF1A1L14 -HGNC:3215 Entry Withdrawn EEGV1 -HGNC:3216 Merged/Split EEK HGNC:3391|EPHA8|Approved -HGNC:3217 Merged/Split EFE2 HGNC:11577|TAFAZZIN|Approved -HGNC:3220 Merged/Split EFMR HGNC:14270|PCDH19|Approved -HGNC:3237 Entry Withdrawn EGI -HGNC:3248 Merged/Split EHK1 HGNC:6412|KRT1|Approved -HGNC:3251 Merged/Split EIF1A HGNC:3250|EIF1AX|Approved -HGNC:3253 Merged/Split EIF2 HGNC:3265|EIF2S1|Approved -HGNC:3256 Merged/Split EIF2B HGNC:3257|EIF2B1|Approved -HGNC:3264 Merged/Split EIF2G HGNC:3267|EIF2S3|Approved -HGNC:3268 Merged/Split EIF3 HGNC:3271|EIF3A|Approved -HGNC:3269 Merged/Split EIF3A HGNC:6159|EIF6|Approved -HGNC:3281 Entry Withdrawn EIF4 -HGNC:3286 Merged/Split EIF4C HGNC:3250|EIF1AX|Approved -HGNC:3291 Merged/Split EIF4EL1 HGNC:3287|EIF4E|Approved -HGNC:3294 Merged/Split EIF4F HGNC:3287|EIF4E|Approved, HGNC:3284|EIF4A2|Approved, HGNC:3296|EIF4G1|Approved -HGNC:3295 Merged/Split EIF4G HGNC:3296|EIF4G1|Approved -HGNC:3302 Merged/Split EIF5AP1 HGNC:17419|EIF5AL1|Approved -HGNC:3305 Merged/Split EJM1 HGNC:16406|EFHC1|Approved -HGNC:3306 Entry Withdrawn EJM2 -HGNC:3307 Merged/Split EKV HGNC:4285|GJB3|Approved -HGNC:3310 Merged/Split ELAM1 HGNC:10718|SELE|Approved -HGNC:3322 Merged/Split ELK2 HGNC:3323|ELK2AP|Approved -HGNC:3328 Entry Withdrawn ELNL1 -HGNC:3329 Merged/Split ELNR1 HGNC:4298|GLB1|Approved -HGNC:3339 Entry Withdrawn EMWX -HGNC:3348 Merged/Split ENDOGL2 HGNC:3347|EXOG|Approved -HGNC:3351 Merged/Split ENO1L1 HGNC:3350|ENO1|Approved -HGNC:3361 Merged/Split ENT1 HGNC:11003|SLC29A1|Approved -HGNC:3362 Merged/Split ENT2 HGNC:11004|SLC29A2|Approved -HGNC:3369 Entry Withdrawn ENUR1 -HGNC:3370 Entry Withdrawn ENUR2 -HGNC:3371 Merged/Split ENX2 HGNC:543|ANXA5|Approved -HGNC:3375 Merged/Split EPB3 HGNC:11027|SLC4A1|Approved -HGNC:3376 Merged/Split EPB3L1 HGNC:11028|SLC4A2|Approved -HGNC:3384 Merged/Split EPD1 HGNC:2227|COMP|Approved -HGNC:3397 Merged/Split EPHT1 HGNC:3385|EPHA1|Approved -HGNC:3398 Merged/Split EPHT2 HGNC:3392|EPHB1|Approved -HGNC:3399 Merged/Split EPHT3 HGNC:3393|EPHB2|Approved -HGNC:3400 Entry Withdrawn EPHTLG -HGNC:3404 Merged/Split EPLG1 HGNC:3221|EFNA1|Approved -HGNC:3405 Merged/Split EPLG2 HGNC:3226|EFNB1|Approved -HGNC:3406 Merged/Split EPLG3 HGNC:3223|EFNA3|Approved -HGNC:3407 Merged/Split EPLG4 HGNC:3224|EFNA4|Approved -HGNC:3408 Merged/Split EPLG5 HGNC:3227|EFNB2|Approved -HGNC:3409 Merged/Split EPLG6 HGNC:3222|EFNA2|Approved -HGNC:3410 Merged/Split EPLG7 HGNC:3225|EFNA5|Approved -HGNC:3411 Merged/Split EPLG8 HGNC:3228|EFNB3|Approved -HGNC:3412 Merged/Split EPM1 HGNC:2482|CSTB|Approved -HGNC:3414 Merged/Split EPMR HGNC:2079|CLN8|Approved -HGNC:3417 Entry Withdrawn EPR1 -HGNC:3421 Merged/Split EPT HGNC:6572|LGI1|Approved -HGNC:3422 Merged/Split EPVE6AP HGNC:12496|UBE3A|Approved -HGNC:3425 Merged/Split ERBA1 HGNC:11796|THRA|Approved -HGNC:3426 Merged/Split ERBA2 HGNC:11799|THRB|Approved -HGNC:3427 Merged/Split ERBA2L HGNC:8548|P4HB|Approved -HGNC:3428 Merged/Split ERBAL2 HGNC:7977|NR2F6|Approved -HGNC:3429 Merged/Split ERBAL3 HGNC:7975|NR2F1|Approved -HGNC:3440 Entry Withdrawn ERCM1 -HGNC:3441 Merged/Split ERCM2 HGNC:3437|ERCC5|Approved -HGNC:3445 Merged/Split ERF1 HGNC:3477|ETF1|Approved -HGNC:3448 Merged/Split ERK HGNC:3393|EPHB2|Approved -HGNC:3450 Entry Withdrawn ERPL1 -HGNC:3451 Entry Withdrawn ERPL2 -HGNC:3452 Merged/Split ERR HGNC:11057|SLC7A1|Approved -HGNC:3453 Entry Withdrawn ERV1 -HGNC:3455 Entry Withdrawn ERVK2 -HGNC:3456 Entry Withdrawn ERVK3 -HGNC:3457 Entry Withdrawn ERVT1 -HGNC:3458 Entry Withdrawn ERVT2 -HGNC:3459 Entry Withdrawn ERVT3 -HGNC:3460 Entry Withdrawn ERVT4 -HGNC:3461 Entry Withdrawn ERVT5 -HGNC:3469 Merged/Split ESRL1 HGNC:3471|ESRRA|Approved -HGNC:3470 Merged/Split ESRL2 HGNC:3473|ESRRB|Approved -HGNC:3475 Merged/Split ESTF HGNC:6860|MAP3K8|Approved -HGNC:3476 Merged/Split ESX HGNC:3318|ELF3|Approved -HGNC:3484 Merged/Split ETK1 HGNC:3387|EPHA3|Approved -HGNC:3485 Merged/Split ETK2 HGNC:3394|EPHB3|Approved -HGNC:3486 Entry Withdrawn ETM1 -HGNC:3487 Entry Withdrawn ETM2 -HGNC:3502 Merged/Split EVI9 HGNC:13221|BCL11A|Approved -HGNC:3504 Merged/Split EVR1 HGNC:4042|FZD4|Approved -HGNC:3505 Merged/Split EVR2 HGNC:7678|NDP|Approved -HGNC:3509 Merged/Split EWSR2 HGNC:3488|ETS1|Approved -HGNC:3510 Merged/Split EXLD1 HGNC:21446|HAPLN3|Approved -HGNC:3514 Entry Withdrawn EXT3 -HGNC:3523 Entry Withdrawn EYCL1 -HGNC:3524 Merged/Split EYCL2 HGNC:8101|OCA2|Approved -HGNC:3525 Merged/Split EYCL3 HGNC:8101|OCA2|Approved -HGNC:3532 Entry Withdrawn F13A2 -HGNC:3533 Entry Withdrawn F13A3 -HGNC:3536 Entry Withdrawn F2L -HGNC:3543 Merged/Split F5F8D HGNC:6631|LMAN1|Approved -HGNC:3548 Merged/Split F8C HGNC:3546|F8|Approved -HGNC:3549 Merged/Split F8VWF HGNC:12726|VWF|Approved -HGNC:3550 Merged/Split F8VWFP HGNC:12727|VWFP1|Approved -HGNC:3552 Entry Withdrawn FA1 -HGNC:3564 Merged/Split FACA HGNC:3582|FANCA|Approved -HGNC:3565 Merged/Split FACC HGNC:3584|FANCC|Approved -HGNC:3566 Merged/Split FACD HGNC:1101|BRCA2|Approved -HGNC:3567 Merged/Split FACE HGNC:3586|FANCE|Approved -HGNC:3568 Entry Withdrawn FACL1 -HGNC:3572 Merged/Split FACVL1 HGNC:10996|SLC27A2|Approved -HGNC:3577 Merged/Split FAEES3 HGNC:4638|GSTP1|Approved -HGNC:3580 Merged/Split FAK2 HGNC:9612|PTK2B|Approved -HGNC:3589 Merged/Split FANCH HGNC:3582|FANCA|Approved -HGNC:3593 Merged/Split FAS1 HGNC:11920|FAS|Approved -HGNC:3598 Entry Withdrawn FAUNA@ -HGNC:3605 Merged/Split FBNL HGNC:3218|EFEMP1|Approved -HGNC:3610 Merged/Split FCER1B HGNC:7316|MS4A2|Approved -HGNC:3617 Merged/Split FCGR2A1 HGNC:3616|FCGR2A|Approved -HGNC:3626 Merged/Split FCP HGNC:3627|FCP1|Entry Withdrawn -HGNC:3627 Entry Withdrawn FCP1 -HGNC:3628 Merged/Split FCT3A HGNC:4015|FUT4|Approved -HGNC:3630 Merged/Split FDH HGNC:253|ADH5|Approved -HGNC:3643 Entry Withdrawn FEB1 -HGNC:3644 Entry Withdrawn FEB2 -HGNC:3645 Merged/Split FEB3 HGNC:10585|SCN1A|Approved -HGNC:3646 Entry Withdrawn FEB4 -HGNC:3652 Merged/Split FEOM1 HGNC:19349|KIF21A|Approved -HGNC:3653 Merged/Split FEOM2 HGNC:691|PHOX2A|Approved -HGNC:3654 Merged/Split FEOM3 HGNC:20772|TUBB3|Approved -HGNC:3669 Merged/Split FGF12B HGNC:3668|FGF12|Approved -HGNC:3692 Merged/Split FGFR6 HGNC:21664|FGFR3P1|Approved -HGNC:3698 Merged/Split FGS1 HGNC:11957|MED12|Approved -HGNC:3699 Entry Withdrawn FGS2 -HGNC:3707 Entry Withdrawn FICP -HGNC:3709 Entry Withdrawn FIM1 -HGNC:3710 Entry Withdrawn FIM3 -HGNC:3713 Merged/Split FKBP1L HGNC:3712|FKBP1B|Approved -HGNC:3726 Merged/Split FKHL1 HGNC:3811|FOXG1|Approved -HGNC:3727 Merged/Split FKHL10 HGNC:3815|FOXI1|Approved -HGNC:3728 Merged/Split FKHL11 HGNC:3817|FOXL1|Approved -HGNC:3729 Merged/Split FKHL12 HGNC:3808|FOXE3|Approved -HGNC:3730 Merged/Split FKHL13 HGNC:3816|FOXJ1|Approved -HGNC:3731 Merged/Split FKHL14 HGNC:3801|FOXC2|Approved -HGNC:3732 Merged/Split FKHL15 HGNC:3806|FOXE1|Approved -HGNC:3733 Merged/Split FKHL16 HGNC:3818|FOXM1|Approved -HGNC:3734 Merged/Split FKHL17 HGNC:3803|FOXD2|Approved -HGNC:3736 Merged/Split FKHL2 HGNC:3811|FOXG1|Approved -HGNC:3737 Merged/Split FKHL3 HGNC:3811|FOXG1|Approved -HGNC:3738 Merged/Split FKHL4 HGNC:3811|FOXG1|Approved -HGNC:3739 Merged/Split FKHL5 HGNC:3809|FOXF1|Approved -HGNC:3740 Merged/Split FKHL6 HGNC:3810|FOXF2|Approved -HGNC:3741 Merged/Split FKHL7 HGNC:3800|FOXC1|Approved -HGNC:3742 Merged/Split FKHL8 HGNC:3802|FOXD1|Approved -HGNC:3743 Merged/Split FKHL9 HGNC:3805|FOXD4|Approved -HGNC:3744 Merged/Split FKHR HGNC:3819|FOXO1|Approved -HGNC:3745 Merged/Split FKHRL1 HGNC:3821|FOXO3|Approved -HGNC:3746 Merged/Split FKHRL1P1 HGNC:3822|FOXO3B|Approved -HGNC:3747 Merged/Split FKHRP1 HGNC:3820|FOXO1B|Approved -HGNC:3751 Merged/Split FLN1 HGNC:3754|FLNA|Approved -HGNC:3752 Merged/Split FLN1L HGNC:3755|FLNB|Approved -HGNC:3753 Merged/Split FLN2 HGNC:3756|FLNC|Approved -HGNC:3759 Merged/Split FLR HGNC:1063|BLVRB|Approved -HGNC:3764 Merged/Split FLT2 HGNC:3688|FGFR1|Approved -HGNC:3777 Entry Withdrawn FMR3 -HGNC:3779 Merged/Split FND HGNC:449|ALX3|Approved -HGNC:3780 Entry Withdrawn FNL1 -HGNC:3786 Entry Withdrawn FNTBL1 -HGNC:3787 Entry Withdrawn FNZ -HGNC:3789 Merged/Split FOLH2 HGNC:13636|FOLH1B|Approved -HGNC:3790 Merged/Split FOLHP HGNC:13636|FOLH1B|Approved -HGNC:3794 Entry Withdrawn FOLR2L -HGNC:3807 Merged/Split FOXE2 HGNC:3806|FOXE1|Approved -HGNC:3812 Merged/Split FOXG1B HGNC:3811|FOXG1|Approved -HGNC:3813 Merged/Split FOXG1C HGNC:3811|FOXG1|Approved -HGNC:3904 Entry Withdrawn FRA4E -HGNC:3934 Entry Withdrawn FRA8F -HGNC:3941 Merged/Split FRAP HGNC:3942|MTOR|Approved -HGNC:3943 Merged/Split FRAP2 HGNC:3942|MTOR|Approved -HGNC:3950 Merged/Split FRAXF HGNC:17125|TMEM185A|Approved -HGNC:3952 Entry Withdrawn FRDA2 -HGNC:3956 Entry Withdrawn FRV1 -HGNC:3957 Entry Withdrawn FRV2 -HGNC:3958 Entry Withdrawn FRV3 -HGNC:3962 Merged/Split FSGS1 HGNC:166|ACTN4|Approved -HGNC:3963 Merged/Split FSGS2 HGNC:12338|TRPC6|Approved -HGNC:3965 Merged/Split FSHD HGNC:3966|FSHMD1A|Entry Withdrawn -HGNC:3966 Entry Withdrawn FSHMD1A -HGNC:3967 Entry Withdrawn FSHMD1B -HGNC:3970 Merged/Split FSP HGNC:4602|CXCL1|Approved -HGNC:3975 Merged/Split FTF HGNC:7984|NR5A2|Approved -HGNC:3977 Merged/Split FTH2 HGNC:3986|FTH1P16|Approved -HGNC:3984 Entry Withdrawn FTHL14 -HGNC:3993 Merged/Split FTHL6 HGNC:3976|FTH1|Approved -HGNC:3998 Merged/Split FTHP3 HGNC:3983|FTH1P13|Approved -HGNC:4002 Merged/Split FTNB HGNC:198|ADAM2|Approved -HGNC:4003 Merged/Split FTZF1 HGNC:7983|NR5A1|Approved -HGNC:4009 Merged/Split FUR HGNC:8568|FURIN|Approved -HGNC:4011 Entry Withdrawn FUSE -HGNC:4048 Merged/Split G10P1 HGNC:5407|IFIT1|Approved -HGNC:4049 Merged/Split G10P2 HGNC:5409|IFIT2|Approved -HGNC:4050 Merged/Split G13P1 HGNC:5408|IFIT1P1|Approved -HGNC:4051 Merged/Split G17P1 HGNC:2746|DDX5|Approved -HGNC:4052 Merged/Split G1P1 HGNC:225|ADAR|Approved -HGNC:4058 Entry Withdrawn G6PDL -HGNC:4060 Merged/Split G6PT HGNC:4056|G6PC1|Approved -HGNC:4062 Merged/Split G6PT2 HGNC:4061|SLC37A4|Approved -HGNC:4063 Merged/Split G6PT3 HGNC:4061|SLC37A4|Approved -HGNC:4064 Entry Withdrawn G7P1 -HGNC:4094 Entry Withdrawn GAD3 -HGNC:4100 Entry Withdrawn GAGE3 -HGNC:4109 Merged/Split GAGEC2 HGNC:31804|PAGE2|Approved -HGNC:4120 Merged/Split GALN HGNC:4114|GAL|Approved -HGNC:4121 Merged/Split GALNR HGNC:4132|GALR1|Approved -HGNC:4151 Merged/Split GAPDHL2 HGNC:4159|GAPDHP1|Approved -HGNC:4154 Merged/Split GAPDL5 HGNC:12024|CRISP2|Approved -HGNC:4176 Merged/Split GAX HGNC:7014|MEOX2|Approved -HGNC:4190 Entry Withdrawn GCF1 -HGNC:4202 Merged/Split GCNF HGNC:7985|NR6A1|Approved -HGNC:4207 Merged/Split GCPS HGNC:4319|GLI3|Approved -HGNC:4209 Merged/Split GCSL HGNC:2898|DLD|Approved -HGNC:4210 Merged/Split GCTG HGNC:21705|GGCT|Approved -HGNC:4211 Entry Withdrawn GCY -HGNC:4219 Entry Withdrawn GDF4 -HGNC:4225 Merged/Split GDH HGNC:4795|H6PD|Approved -HGNC:4229 Merged/Split GDIA1 HGNC:678|ARHGDIA|Approved -HGNC:4230 Merged/Split GDIA2 HGNC:679|ARHGDIB|Approved -HGNC:4231 Merged/Split GDID4 HGNC:679|ARHGDIB|Approved -HGNC:4233 Merged/Split GDNFRA HGNC:4243|GFRA1|Approved -HGNC:4239 Merged/Split GFI2 HGNC:675|ARHGAP5|Approved -HGNC:4240 Merged/Split GFPT HGNC:4241|GFPT1|Approved -HGNC:4246 Merged/Split GFRP1 HGNC:7980|NR4A1|Approved -HGNC:4255 Merged/Split GGTB1 HGNC:4644|GTA|Entry Withdrawn -HGNC:4256 Merged/Split GGTB2 HGNC:924|B4GALT1|Approved -HGNC:4257 Entry Withdrawn GGTL1 -HGNC:4258 Entry Withdrawn GGTL2 -HGNC:4264 Merged/Split GHRF HGNC:4265|GHRH|Approved -HGNC:4269 Merged/Split GINGF HGNC:11187|SOS1|Approved -HGNC:4276 Entry Withdrawn GJA2 -HGNC:4282 Merged/Split GJAL HGNC:4274|GJA1|Approved -HGNC:4290 Merged/Split GK7P HGNC:23263|GK6P|Approved -HGNC:4293 Entry Withdrawn GKP4 -HGNC:4294 Entry Withdrawn GKP5 -HGNC:4297 Entry Withdrawn GLAT -HGNC:4299 Merged/Split GLBA HGNC:9498|PSAP|Approved -HGNC:4300 Entry Withdrawn GLC# -HGNC:4301 Merged/Split GLC1A HGNC:7610|MYOC|Approved -HGNC:4302 Entry Withdrawn GLC1B -HGNC:4303 Entry Withdrawn GLC1C -HGNC:4304 Entry Withdrawn GLC1D -HGNC:4305 Merged/Split GLC1E HGNC:17142|OPTN|Approved -HGNC:4306 Merged/Split GLC1F HGNC:17185|ASB10|Approved -HGNC:4307 Entry Withdrawn GLC2A -HGNC:4308 Merged/Split GLC3A HGNC:2597|CYP1B1|Approved -HGNC:4309 Entry Withdrawn GLC3B -HGNC:4310 Merged/Split GLCL HGNC:4311|GCLC|Approved -HGNC:4321 Merged/Split GLIF HGNC:7097|MIF|Approved -HGNC:4322 Merged/Split GLNS HGNC:4341|GLUL|Approved -HGNC:4334 Merged/Split GLUC HGNC:4177|GBA|Approved -HGNC:4346 Merged/Split GLUR1 HGNC:4571|GRIA1|Approved -HGNC:4347 Merged/Split GLUR2 HGNC:4572|GRIA2|Approved -HGNC:4348 Merged/Split GLUR3 HGNC:4573|GRIA3|Approved -HGNC:4349 Merged/Split GLUR4 HGNC:4574|GRIA4|Approved -HGNC:4350 Merged/Split GLUR5 HGNC:4579|GRIK1|Approved -HGNC:4351 Merged/Split GLUR6 HGNC:4580|GRIK2|Approved -HGNC:4352 Entry Withdrawn GLUR7 -HGNC:4353 Merged/Split GLUT1 HGNC:11005|SLC2A1|Approved -HGNC:4354 Merged/Split GLUT2 HGNC:11006|SLC2A2|Approved -HGNC:4355 Merged/Split GLUT3 HGNC:11007|SLC2A3|Approved -HGNC:4356 Merged/Split GLUT3P1 HGNC:11008|SLC2A3P1|Approved -HGNC:4357 Merged/Split GLUT4 HGNC:11009|SLC2A4|Approved -HGNC:4358 Merged/Split GLUT5 HGNC:11010|SLC2A5|Approved -HGNC:4359 Merged/Split GLUT6 HGNC:11008|SLC2A3P1|Approved -HGNC:4360 Merged/Split GLVR1 HGNC:10946|SLC20A1|Approved -HGNC:4361 Merged/Split GLVR2 HGNC:10947|SLC20A2|Approved -HGNC:4362 Merged/Split GLXR HGNC:4570|GRHPR|Approved -HGNC:4363 Entry Withdrawn GLYB -HGNC:4364 Merged/Split GLYD HGNC:4570|GRHPR|Approved -HGNC:4365 Entry Withdrawn GLYS1 -HGNC:4366 Merged/Split GLYT2L HGNC:4254|GGTA2P|Approved -HGNC:4372 Entry Withdrawn GMFA -HGNC:4406 Merged/Split GNG3LG HGNC:15832|BSCL2|Approved -HGNC:4418 Merged/Split GNPTA HGNC:29670|GNPTAB|Approved -HGNC:4423 Merged/Split GNT1 HGNC:12530|UGT1A1|Approved -HGNC:4437 Merged/Split GOV HGNC:9779|RAB3D|Approved -HGNC:4438 Merged/Split GOX1 HGNC:4809|HAO1|Approved -HGNC:4442 Merged/Split GP2B HGNC:6138|ITGA2B|Approved -HGNC:4448 Entry Withdrawn GPB -HGNC:4457 Entry Withdrawn GPDS1 -HGNC:4465 Merged/Split GPR11 HGNC:3538|F2RL1|Approved -HGNC:4467 Merged/Split GPR13 HGNC:2558|CX3CR1|Approved -HGNC:4470 Merged/Split GPR16 HGNC:6713|LTB4R|Approved -HGNC:4483 Merged/Split GPR28 HGNC:1610|CCR9|Approved -HGNC:4491 Entry Withdrawn GPR34P -HGNC:4505 Merged/Split GPR5 HGNC:1625|XCR1|Approved -HGNC:4520 Merged/Split GPR69A HGNC:6508|LANCL1|Approved -HGNC:4521 Merged/Split GPR69B HGNC:6509|LANCL2|Approved -HGNC:4534 Merged/Split GPR72 HGNC:4523|GPR83|Approved -HGNC:4541 Entry Withdrawn GPR90 -HGNC:4546 Merged/Split GPRK6L HGNC:4547|GRK6P1|Approved -HGNC:4548 Merged/Split GPRK7 HGNC:7111|MKNK2|Approved -HGNC:4569 Merged/Split GRH HGNC:4419|GNRH1|Approved -HGNC:4578 Merged/Split GRIK HGNC:4582|GRIK4|Approved -HGNC:4590 Merged/Split GRL HGNC:7978|NR3C1|Approved -HGNC:4608 Merged/Split GRP78 HGNC:5238|HSPA5|Approved -HGNC:4611 Merged/Split GSAS HGNC:9722|ALDH18A1|Approved -HGNC:4614 Entry Withdrawn GSK1 -HGNC:4615 Entry Withdrawn GSK2 -HGNC:4618 Merged/Split GSL HGNC:9251|CTSA|Approved -HGNC:4619 Entry Withdrawn GSM1 -HGNC:4625 Merged/Split GST12 HGNC:7061|MGST1|Approved -HGNC:4639 Merged/Split GSTPL HGNC:4640|GSTP1P1|Approved -HGNC:4644 Entry Withdrawn GTA -HGNC:4645 Merged/Split GTBP HGNC:7329|MSH6|Approved -HGNC:4649 Merged/Split GTF2D1 HGNC:11588|TBP|Approved -HGNC:4663 Merged/Split GTF3B HGNC:11551|BRF1|Approved -HGNC:4671 Entry Withdrawn GTS -HGNC:4672 Merged/Split GUC1A2 HGNC:4684|GUCY1A2|Approved -HGNC:4673 Merged/Split GUC1A3 HGNC:4685|GUCY1A1|Approved -HGNC:4674 Merged/Split GUC1A4 HGNC:4689|GUCY2D|Approved -HGNC:4675 Merged/Split GUC1B3 HGNC:4687|GUCY1B1|Approved -HGNC:4676 Merged/Split GUC2C HGNC:4688|GUCY2C|Approved -HGNC:4677 Merged/Split GUC2D HGNC:4689|GUCY2D|Approved -HGNC:4681 Merged/Split GUCA2 HGNC:4682|GUCA2A|Approved -HGNC:4692 Merged/Split GUD HGNC:12796|WT1|Approved -HGNC:4697 Entry Withdrawn GUSM -HGNC:4698 Merged/Split GXP1 HGNC:12469|UBA1|Approved -HGNC:4721 Merged/Split H1FV HGNC:4714|H1-0|Approved -HGNC:4723 Merged/Split H2A HGNC:4738|H2AC20|Approved -HGNC:4731 Merged/Split H2AFK HGNC:4732|H2AC10P|Approved -HGNC:4743 Merged/Split H2AX HGNC:4739|H2AX|Approved -HGNC:4745 Merged/Split H2B HGNC:4760|H2BC21|Approved -HGNC:4759 Merged/Split H2BFO HGNC:20517|H2BC19P|Approved -HGNC:4763 Merged/Split H3F2 HGNC:20503|H3C14|Approved -HGNC:4777 Merged/Split H3FM HGNC:20503|H3C14|Approved -HGNC:4779 Merged/Split H4F2 HGNC:4794|H4C14|Approved -HGNC:4780 Entry Withdrawn H4F3 -HGNC:4797 Merged/Split HABP1 HGNC:1243|C1QBP|Approved -HGNC:4804 Merged/Split HADHSC HGNC:4799|HADH|Approved -HGNC:4811 Entry Withdrawn HAO3 -HGNC:4813 Merged/Split HAP2 HGNC:4812|HAP1|Approved -HGNC:4815 Entry Withdrawn HAPP -HGNC:4822 Merged/Split HAUSP HGNC:12630|USP7|Approved -HGNC:4841 Entry Withdrawn HCL1 -HGNC:4842 Entry Withdrawn HCL2 -HGNC:4843 Entry Withdrawn HCL3 -HGNC:4850 Entry Withdrawn HCVS -HGNC:4858 Merged/Split HDLDT1 HGNC:29|ABCA1|Approved -HGNC:4859 Merged/Split HEGFL HGNC:3059|HBEGF|Approved -HGNC:4860 Entry Withdrawn HELIGL1 -HGNC:4863 Merged/Split HEN1 HGNC:7817|NHLH1|Approved -HGNC:4864 Merged/Split HEN2 HGNC:7818|NHLH2|Approved -HGNC:4865 Entry Withdrawn HEP10 -HGNC:4884 Merged/Split HF2 HGNC:4883|CFH|Approved -HGNC:4885 Merged/Split HFC1 HGNC:4839|HCFC1|Approved -HGNC:4889 Merged/Split CFHR1P HGNC:4888|CFHR1|Approved -HGNC:4891 Merged/Split HFSP HGNC:4708|GZMA|Approved -HGNC:4895 Merged/Split HGFL HGNC:7380|MST1|Approved -HGNC:4896 Merged/Split HGL HGNC:7997|NRG1|Approved -HGNC:4898 Merged/Split HHC1 HGNC:1514|CASR|Approved -HGNC:4899 Merged/Split HHC2 HGNC:4379|GNA11|Approved -HGNC:4900 Merged/Split HHC3 HGNC:565|AP2S1|Approved -HGNC:4902 Merged/Split HHG HGNC:6585|LHCGR|Approved -HGNC:4903 Merged/Split HHH HGNC:10985|SLC25A15|Approved -HGNC:4911 Merged/Split HIGM1 HGNC:11935|CD40LG|Approved -HGNC:4918 Merged/Split HIS HGNC:4806|HAL|Approved -HGNC:4919 Merged/Split HIVE1 HGNC:1599|CCNT1|Approved -HGNC:4949 Merged/Split HLA-DRB1L HGNC:4957|HLA-DRB9|Approved -HGNC:4958 Merged/Split HLA-DVB HGNC:4946|HLA-DQB3|Approved -HGNC:4959 Merged/Split HLA-DXA HGNC:4943|HLA-DQA2|Approved -HGNC:4960 Merged/Split HLA-DXB HGNC:4945|HLA-DQB2|Approved -HGNC:4961 Merged/Split HLA-DZA HGNC:4936|HLA-DOA|Approved -HGNC:4968 Merged/Split HLA-JY3 HGNC:4933|HLA-C|Approved -HGNC:4971 Merged/Split HLA70 HGNC:4969|HLA-K|Approved -HGNC:4972 Merged/Split HLA92 HGNC:4970|HLA-L|Approved -HGNC:4973 Merged/Split HLAK HGNC:4969|HLA-K|Approved -HGNC:4974 Merged/Split HLAL HGNC:4970|HLA-L|Approved -HGNC:4980 Entry Withdrawn HMAA -HGNC:4981 Entry Withdrawn HMAB -HGNC:4999 Entry Withdrawn HMG1P -HGNC:5011 Entry Withdrawn HMI -HGNC:5015 Merged/Split HMR HGNC:7980|NR4A1|Approved -HGNC:5016 Entry Withdrawn HMS1 -HGNC:5020 Entry Withdrawn HNB1 -HGNC:5027 Merged/Split HNF6A HGNC:8138|ONECUT1|Approved -HGNC:5029 Merged/Split HNP36 HGNC:11004|SLC29A2|Approved -HGNC:5040 Merged/Split HNRPG HGNC:9911|RBMXP1|Approved -HGNC:5049 Entry Withdrawn HOAC -HGNC:5050 Merged/Split HOKPP HGNC:1397|CACNA1S|Approved -HGNC:5051 Merged/Split HOMG HGNC:17995|TRPM6|Approved -HGNC:5052 Merged/Split HOMG2 HGNC:4026|FXYD2|Approved -HGNC:5053 Merged/Split HOPS HGNC:438|ALPL|Approved -HGNC:5054 Merged/Split HOS HGNC:11604|TBX5|Approved -HGNC:5055 Merged/Split HOX10 HGNC:1975|VSX2|Approved -HGNC:5058 Merged/Split HOX1A HGNC:5108|HOXA7|Approved -HGNC:5059 Merged/Split HOX1B HGNC:5107|HOXA6|Approved -HGNC:5060 Merged/Split HOX1C HGNC:5106|HOXA5|Approved -HGNC:5061 Merged/Split HOX1D HGNC:5137|HOXD3|Approved -HGNC:5062 Merged/Split HOX1E HGNC:5104|HOXA3|Approved -HGNC:5063 Merged/Split HOX1F HGNC:5099|HOXA1|Approved -HGNC:5064 Merged/Split HOX1G HGNC:5109|HOXA9|Approved -HGNC:5065 Merged/Split HOX1H HGNC:5100|HOXA10|Approved -HGNC:5066 Merged/Split HOX1I HGNC:5101|HOXA11|Approved -HGNC:5067 Merged/Split HOX1J HGNC:5102|HOXA13|Approved -HGNC:5068 Merged/Split HOX2@ HGNC:5110|HOXB@|Approved -HGNC:5069 Merged/Split HOX2A HGNC:5116|HOXB5|Approved -HGNC:5070 Merged/Split HOX2B HGNC:5117|HOXB6|Approved -HGNC:5071 Merged/Split HOX2C HGNC:5118|HOXB7|Approved -HGNC:5072 Merged/Split HOX2D HGNC:5119|HOXB8|Approved -HGNC:5073 Merged/Split HOX2E HGNC:5120|HOXB9|Approved -HGNC:5074 Merged/Split HOX2F HGNC:5115|HOXB4|Approved -HGNC:5075 Merged/Split HOX2G HGNC:5114|HOXB3|Approved -HGNC:5076 Merged/Split HOX2H HGNC:5113|HOXB2|Approved -HGNC:5077 Merged/Split HOX2I HGNC:5111|HOXB1|Approved -HGNC:5078 Merged/Split HOX3@ HGNC:5121|HOXC@|Approved -HGNC:5079 Merged/Split HOX3A HGNC:5129|HOXC8|Approved -HGNC:5080 Merged/Split HOX3B HGNC:5130|HOXC9|Approved -HGNC:5081 Merged/Split HOX3C HGNC:5128|HOXC6|Approved -HGNC:5082 Merged/Split HOX3D HGNC:5127|HOXC5|Approved -HGNC:5083 Merged/Split HOX3E HGNC:5126|HOXC4|Approved -HGNC:5084 Merged/Split HOX3F HGNC:5124|HOXC12|Approved -HGNC:5085 Merged/Split HOX3G HGNC:5125|HOXC13|Approved -HGNC:5086 Merged/Split HOX3H HGNC:5123|HOXC11|Approved -HGNC:5087 Merged/Split HOX4@ HGNC:5131|HOXD@|Approved -HGNC:5088 Merged/Split HOX4A HGNC:5137|HOXD3|Approved -HGNC:5089 Merged/Split HOX4B HGNC:5138|HOXD4|Approved -HGNC:5090 Merged/Split HOX4C HGNC:5140|HOXD9|Approved -HGNC:5091 Merged/Split HOX4D HGNC:5133|HOXD10|Approved -HGNC:5092 Merged/Split HOX4E HGNC:5139|HOXD8|Approved -HGNC:5093 Merged/Split HOX4F HGNC:5134|HOXD11|Approved -HGNC:5094 Merged/Split HOX4G HGNC:5132|HOXD1|Approved -HGNC:5095 Merged/Split HOX4H HGNC:5135|HOXD12|Approved -HGNC:5096 Merged/Split HOX4I HGNC:5136|HOXD13|Approved -HGNC:5097 Merged/Split HOX7 HGNC:7391|MSX1|Approved -HGNC:5142 Merged/Split HPAFP HGNC:317|AFP|Approved -HGNC:5143 Entry Withdrawn HPC1 -HGNC:5146 Entry Withdrawn HPCX -HGNC:5148 Merged/Split HPDR HGNC:8918|PHEX|Approved -HGNC:5149 Entry Withdrawn HPE1 -HGNC:5150 Merged/Split HPE2 HGNC:10889|SIX3|Approved -HGNC:5151 Merged/Split HPE3 HGNC:10848|SHH|Approved -HGNC:5152 Merged/Split HPE4 HGNC:11776|TGIF1|Approved -HGNC:5153 Entry Withdrawn HPFH2 -HGNC:5158 Entry Withdrawn HPRT2 -HGNC:5159 Entry Withdrawn HPRTP1 -HGNC:5162 Merged/Split HPRTP4 HGNC:5161|HPRT1P3|Approved -HGNC:5165 Entry Withdrawn HPT -HGNC:5169 Entry Withdrawn HPVC1 -HGNC:5170 Merged/Split HPVE6A HGNC:12496|UBE3A|Approved -HGNC:5179 Merged/Split HRD HGNC:11582|TBCE|Approved -HGNC:5189 Merged/Split HRP1 HGNC:12629|USP6|Approved -HGNC:5190 Merged/Split HRPT1 HGNC:16783|CDC73|Approved -HGNC:5191 Merged/Split C1orf28 HGNC:16783|CDC73|Approved -HGNC:5202 Merged/Split HSAS1 HGNC:6470|L1CAM|Approved -HGNC:5204 Merged/Split HSC HGNC:4012|FUT1|Approved -HGNC:5205 Merged/Split HSCR HGNC:3180|EDNRB|Approved -HGNC:5206 Merged/Split HSCR1 HGNC:9967|RET|Approved -HGNC:5207 Merged/Split HSCR2 HGNC:3180|EDNRB|Approved -HGNC:5214 Merged/Split HSD17B5 HGNC:386|AKR1C3|Approved -HGNC:5230 Merged/Split HSN1 HGNC:11277|SPTLC1|Approved -HGNC:5231 Merged/Split HSPA10 HGNC:5241|HSPA8|Approved -HGNC:5236 Entry Withdrawn HSPA3 -HGNC:5243 Entry Withdrawn HSPA9A -HGNC:5250 Entry Withdrawn HSPBL1 -HGNC:5257 Merged/Split HSPCAL4 HGNC:5253|HSP90AA1|Approved -HGNC:5260 Merged/Split HSPCP2 HGNC:12099|HSP90B2P|Approved -HGNC:5262 Merged/Split HSPDP1 HGNC:5264|HSPD1P3|Approved -HGNC:5265 Merged/Split HSPDP4 HGNC:5264|HSPD1P3|Approved -HGNC:5272 Merged/Split HSPG1 HGNC:10659|SDC2|Approved -HGNC:5274 Merged/Split HSST HGNC:7680|NDST1|Approved -HGNC:5277 Entry Withdrawn HTC1 -HGNC:5278 Entry Withdrawn HTC2 -HGNC:5279 Merged/Split HTK HGNC:3395|EPHB4|Approved -HGNC:5280 Entry Withdrawn HTL -HGNC:5282 Merged/Split HTLVR HGNC:11005|SLC2A1|Approved -HGNC:5288 Merged/Split HTR1C HGNC:5295|HTR2C|Approved -HGNC:5296 Merged/Split HTR3 HGNC:5297|HTR3A|Approved -HGNC:5303 Merged/Split HTRL HGNC:5289|HTR1D|Approved -HGNC:5304 Merged/Split HTT HGNC:11050|SLC6A4|Approved -HGNC:5305 Merged/Split HTX1 HGNC:12874|ZIC3|Approved -HGNC:5306 Merged/Split HTX2 HGNC:18292|CFC1|Approved -HGNC:5307 Merged/Split HUD HGNC:3315|ELAVL4|Approved -HGNC:5308 Merged/Split HUR HGNC:3312|ELAVL1|Approved -HGNC:5310 Entry Withdrawn HV1S -HGNC:5311 Entry Withdrawn HVBS1 -HGNC:5312 Entry Withdrawn HVBS4 -HGNC:5313 Entry Withdrawn HVBS6 -HGNC:5316 Merged/Split HVEB HGNC:9707|NECTIN2|Approved -HGNC:5317 Merged/Split HVEC HGNC:9706|NECTIN1|Approved -HGNC:5319 Merged/Split HY HGNC:11115|KDM5D|Approved -HGNC:5325 Merged/Split HYKPP HGNC:10591|SCN4A|Approved -HGNC:5327 Merged/Split HYP HGNC:8918|PHEX|Approved -HGNC:5328 Merged/Split HYRC1 HGNC:9413|PRKDC|Approved -HGNC:5332 Entry Withdrawn IBD2 -HGNC:5333 Entry Withdrawn IBD4 -HGNC:5334 Entry Withdrawn IBD5 -HGNC:5335 Entry Withdrawn IBD6 -HGNC:5336 Entry Withdrawn IBGC1 -HGNC:5337 Merged/Split IBM2 HGNC:23657|GNE|Approved -HGNC:5338 Merged/Split IBM3 HGNC:7572|MYH2|Approved -HGNC:5339 Merged/Split IBP1 HGNC:5461|IGBP1|Approved -HGNC:5340 Merged/Split IBP2 HGNC:5471|IGFBP2|Approved -HGNC:5342 Entry Withdrawn IC1 -HGNC:5349 Merged/Split ICCA HGNC:30500|PRRT2|Approved -HGNC:5352 Entry Withdrawn ICR1 -HGNC:5353 Merged/Split ICR2B HGNC:14637|ABCA12|Approved -HGNC:5354 Entry Withdrawn ICR3 -HGNC:5355 Entry Withdrawn ICR4 -HGNC:5356 Entry Withdrawn ICR5 -HGNC:5357 Entry Withdrawn ICS1 -HGNC:5364 Merged/Split IDDM10 HGNC:6008|IL2RA|Approved -HGNC:5365 Entry Withdrawn IDDM11 -HGNC:5366 Merged/Split IDDM12 HGNC:2505|CTLA4|Approved -HGNC:5367 Entry Withdrawn IDDM13 -HGNC:5368 Entry Withdrawn IDDM14 -HGNC:5369 Entry Withdrawn IDDM15 -HGNC:5370 Entry Withdrawn IDDM16 -HGNC:5371 Entry Withdrawn IDDM17 -HGNC:5372 Entry Withdrawn IDDM18 -HGNC:5373 Merged/Split IDDM2 HGNC:6081|INS|Approved -HGNC:5374 Entry Withdrawn IDDM3 -HGNC:5375 Entry Withdrawn IDDM4 -HGNC:5376 Merged/Split IDDM5 HGNC:21181|SUMO4|Approved -HGNC:5377 Entry Withdrawn IDDM6 -HGNC:5378 Entry Withdrawn IDDM7 -HGNC:5379 Entry Withdrawn IDDM8 -HGNC:5380 Entry Withdrawn IDDM9 -HGNC:5388 Merged/Split IDO HGNC:6059|IDO1|Approved -HGNC:5396 Merged/Split IFI17 HGNC:5412|IFITM1|Approved -HGNC:5400 Merged/Split IFI4 HGNC:225|ADAR|Approved -HGNC:5402 Merged/Split IFI53 HGNC:12729|WARS1|Approved -HGNC:5403 Merged/Split IFI54 HGNC:5409|IFIT2|Approved -HGNC:5404 Merged/Split IFI56 HGNC:5407|IFIT1|Approved -HGNC:5405 Merged/Split IFI56P HGNC:5408|IFIT1P1|Approved -HGNC:5406 Merged/Split IFI75 HGNC:5401|SP110|Approved -HGNC:5415 Entry Withdrawn IFN1@ -HGNC:5416 Merged/Split IFNA HGNC:5415|IFN1@|Entry Withdrawn -HGNC:5430 Merged/Split IFNAI1 HGNC:5407|IFIT1|Approved -HGNC:5435 Merged/Split IFNB2 HGNC:6018|IL6|Approved -HGNC:5436 Entry Withdrawn IFNB3 -HGNC:5437 Entry Withdrawn IFNBR -HGNC:5441 Merged/Split IFNGT1 HGNC:5440|IFNGR2|Approved -HGNC:5445 Entry Withdrawn IFNP23 -HGNC:5446 Entry Withdrawn IFNP24 -HGNC:5458 Merged/Split IGA HGNC:1698|CD79A|Approved -HGNC:5459 Entry Withdrawn IGAD1 -HGNC:5460 Merged/Split IGB HGNC:1699|CD79B|Approved -HGNC:5462 Merged/Split IGER HGNC:7316|MS4A2|Approved -HGNC:5463 Entry Withdrawn IGES -HGNC:5470 Merged/Split IGFBP10 HGNC:2654|CCN1|Approved -HGNC:5481 Entry Withdrawn IGHD@ -HGNC:5519 Entry Withdrawn IGHDOR15@ -HGNC:5520 Merged/Split IGHDY1 HGNC:5477|IGH|Approved -HGNC:5521 Merged/Split IGHDY2 HGNC:5519|IGHDOR15@|Entry Withdrawn -HGNC:5530 Merged/Split IGHJ HGNC:5531|IGHJ@|Entry Withdrawn -HGNC:5531 Entry Withdrawn IGHJ@ -HGNC:5543 Entry Withdrawn IGHR -HGNC:5544 Merged/Split IGHV HGNC:5545|IGHV@|Entry Withdrawn -HGNC:5545 Entry Withdrawn IGHV@ -HGNC:5561 Merged/Split IGHV1-E HGNC:5558|IGHV1-69|Approved -HGNC:5578 Merged/Split IGHV2@ HGNC:5711|IGHVOR15@|Entry Withdrawn -HGNC:5630 Merged/Split IGHV3-G HGNC:5621|IGHV3-71|Approved -HGNC:5632 Merged/Split IGHV3@ HGNC:5712|IGHVOR16@|Entry Withdrawn -HGNC:5668 Entry Withdrawn IGHV7-77 -HGNC:5711 Entry Withdrawn IGHVOR15@ -HGNC:5712 Entry Withdrawn IGHVOR16@ -HGNC:5718 Entry Withdrawn IGKJ@ -HGNC:5727 Merged/Split IGKV HGNC:5728|IGKV@|Entry Withdrawn -HGNC:5728 Entry Withdrawn IGKV@ -HGNC:5729 Merged/Split IGKV1 HGNC:5728|IGKV@|Entry Withdrawn -HGNC:5745 Merged/Split IGKV1@ HGNC:5728|IGKV@|Entry Withdrawn -HGNC:5774 Merged/Split IGKV1OR22-5A HGNC:5773|IGKV1OR22-5|Approved -HGNC:5775 Merged/Split IGKV2 HGNC:5728|IGKV@|Entry Withdrawn -HGNC:5790 Merged/Split IGKV2@ HGNC:5728|IGKV@|Entry Withdrawn -HGNC:5791 Merged/Split IGKV268 HGNC:5830|IGKV3OR2-268|Approved -HGNC:5807 Merged/Split IGKV2OR2-1A HGNC:5805|IGKV2OR2-1|Approved -HGNC:5814 Merged/Split IGKV3 HGNC:5728|IGKV@|Entry Withdrawn -HGNC:5822 Merged/Split IGKV3@ HGNC:5728|IGKV@|Entry Withdrawn -HGNC:5831 Merged/Split IGKV3OR2-268A HGNC:5830|IGKV3OR2-268|Approved -HGNC:5840 Entry Withdrawn IGKVOR2@ -HGNC:5841 Merged/Split IGKVP@ HGNC:5840|IGKVOR2@|Entry Withdrawn -HGNC:5842 Merged/Split IGKVP1 HGNC:5764|IGKV1OR1-1|Approved -HGNC:5843 Merged/Split IGKVP2 HGNC:5765|IGKV1OR15-118|Approved -HGNC:5844 Merged/Split IGKVP3 HGNC:5833|IGKV3OR22-2|Approved -HGNC:5845 Merged/Split IGKVP4 HGNC:5812|IGKV2OR22-3|Approved -HGNC:5846 Merged/Split IGKVP5 HGNC:5772|IGKV1OR22-1|Approved -HGNC:5847 Merged/Split IGKVP6 HGNC:5813|IGKV2OR22-4|Approved -HGNC:5848 Merged/Split IGKVP7 HGNC:5773|IGKV1OR22-5|Approved -HGNC:5849 Merged/Split IGKVPZ1 HGNC:5760|IGKV1OR2-1|Approved -HGNC:5850 Merged/Split IGKVPZ2 HGNC:5761|IGKV1OR-2|Approved -HGNC:5851 Merged/Split IGKVPZ3 HGNC:5762|IGKV1OR-3|Approved -HGNC:5852 Merged/Split IGKVPZ4 HGNC:5763|IGKV1OR-4|Approved -HGNC:5854 Entry Withdrawn IGLC@ -HGNC:5862 Entry Withdrawn IGLJ@ -HGNC:5873 Entry Withdrawn IGLP1 -HGNC:5874 Entry Withdrawn IGLP2 -HGNC:5875 Entry Withdrawn IGLV@ -HGNC:5947 Merged/Split IGO1 HGNC:4640|GSTP1P1|Approved -HGNC:5954 Entry Withdrawn IHG1 -HGNC:5955 Merged/Split IHG2 HGNC:9005|PITX2|Approved -HGNC:5957 Merged/Split II HGNC:4204|GCNT2|Approved -HGNC:5963 Merged/Split IL10R HGNC:5964|IL10RA|Approved -HGNC:5968 Entry Withdrawn IL11RB -HGNC:5976 Entry Withdrawn IL14 -HGNC:5979 Merged/Split IL15RB HGNC:6009|IL2RB|Approved -HGNC:6007 Merged/Split IL2R HGNC:6008|IL2RA|Approved -HGNC:6013 Merged/Split IL3RB HGNC:2436|CSF2RB|Approved -HGNC:6035 Merged/Split ILA HGNC:11924|TNFRSF9|Approved -HGNC:6039 Merged/Split ILF3L HGNC:16462|STRBP|Approved -HGNC:6042 Merged/Split IMD1 HGNC:1133|BTK|Approved -HGNC:6043 Merged/Split IMD2 HGNC:12731|WAS|Approved -HGNC:6044 Merged/Split IMD3 HGNC:11935|CD40LG|Approved -HGNC:6045 Merged/Split IMD4 HGNC:6010|IL2RG|Approved -HGNC:6046 Merged/Split IMD5 HGNC:10820|SH2D1A|Approved -HGNC:6049 Merged/Split IMPA HGNC:6050|IMPA1|Approved -HGNC:6056 Merged/Split IMPT1 HGNC:10964|SLC22A18|Approved -HGNC:6070 Merged/Split INP10 HGNC:10637|CXCL10|Approved -HGNC:6072 Entry Withdrawn INPP3 -HGNC:6073 Merged/Split INPP4 HGNC:6074|INPP4A|Approved -HGNC:6078 Entry Withdrawn INPP5C -HGNC:6082 Entry Withdrawn INSAF -HGNC:6084 Entry Withdrawn INSL1 -HGNC:6085 Entry Withdrawn INSL2 -HGNC:6092 Entry Withdrawn INSRL -HGNC:6094 Merged/Split INSSA1 HGNC:18442|SYCN|Approved -HGNC:6095 Entry Withdrawn INSSA2 -HGNC:6097 Merged/Split INT1 HGNC:12774|WNT1|Approved -HGNC:6098 Merged/Split INT1L1 HGNC:12780|WNT2|Approved -HGNC:6099 Merged/Split INT3 HGNC:7884|NOTCH4|Approved -HGNC:6100 Merged/Split INT4 HGNC:12782|WNT3|Approved -HGNC:6101 Merged/Split INT6 HGNC:3277|EIF3E|Approved -HGNC:6103 Merged/Split IOSCA HGNC:1160|TWNK|Approved -HGNC:6104 Merged/Split IP1 HGNC:5961|IKBKG|Approved -HGNC:6105 Merged/Split IP2 HGNC:5961|IKBKG|Approved -HGNC:6114 Merged/Split IREB1 HGNC:117|ACO1|Approved -HGNC:6123 Merged/Split IRID1 HGNC:3800|FOXC1|Approved -HGNC:6124 Merged/Split IRID2 HGNC:9005|PITX2|Approved -HGNC:6151 Entry Withdrawn ITGAW -HGNC:6165 Merged/Split ITI HGNC:453|AMBP|Approved -HGNC:6170 Merged/Split ITIHL1 HGNC:6169|ITIH4|Approved -HGNC:6185 Entry Withdrawn IV -HGNC:6191 Merged/Split JAK1B HGNC:6190|JAK1|Approved -HGNC:6194 Entry Withdrawn JBS -HGNC:6195 Merged/Split JK HGNC:10918|SLC14A1|Approved -HGNC:6197 Merged/Split JMS HGNC:886|ATRX|Approved -HGNC:6198 Entry Withdrawn JPD -HGNC:6202 Merged/Split JTK5A HGNC:10481|RYK|Approved -HGNC:6203 Merged/Split JTK5B HGNC:10482|RYKP1|Approved -HGNC:6208 Merged/Split JWS HGNC:3689|FGFR2|Approved -HGNC:6209 Entry Withdrawn K12T -HGNC:6212 Merged/Split KAL2 HGNC:3688|FGFR1|Approved -HGNC:6213 Merged/Split KAL3 HGNC:15836|PROKR2|Approved -HGNC:6223 Merged/Split KCNA4L HGNC:6222|KCNA4|Approved -HGNC:6227 Merged/Split KCNA9 HGNC:6294|KCNQ1|Approved -HGNC:6245 Merged/Split KCNF HGNC:6246|KCNF1|Approved -HGNC:6247 Merged/Split KCNG HGNC:6248|KCNG1|Approved -HGNC:6268 Merged/Split KCNJ7 HGNC:6267|KCNJ6|Approved -HGNC:6271 Merged/Split KCNJN1 HGNC:6258|KCNJ12|Approved -HGNC:6276 Merged/Split KCNK14 HGNC:13814|KCNK15|Approved -HGNC:6303 Merged/Split KCS HGNC:11582|TBCE|Approved -HGNC:6310 Merged/Split KERSMCR HGNC:37808|KRT16P3|Approved -HGNC:6311 Entry Withdrawn KFM -HGNC:6312 Merged/Split KFS HGNC:6311|KFM|Entry Withdrawn -HGNC:6313 Merged/Split KFSD HGNC:15455|MBTPS2|Approved -HGNC:6314 Merged/Split KGFR HGNC:3689|FGFR2|Approved -HGNC:6328 Merged/Split KIR HGNC:6338|KIR3DL1|Approved -HGNC:6382 Entry Withdrawn KMS -HGNC:6384 Merged/Split KNO HGNC:2195|COL18A1|Approved -HGNC:6385 Entry Withdrawn KNPEP -HGNC:6386 Merged/Split KNS1 HGNC:6324|KIF5B|Approved -HGNC:6403 Merged/Split KPP HGNC:6413|KRT10|Approved -HGNC:6405 Merged/Split KRAG HGNC:11322|SSPN|Approved -HGNC:6409 Merged/Split KRN1 HGNC:23604|KRTAP5-9|Approved -HGNC:6410 Merged/Split KRN1L HGNC:23596|KRTAP5-1|Approved -HGNC:6411 Merged/Split KROX20 HGNC:3239|EGR2|Approved -HGNC:6417 Entry Withdrawn KRT14L1 -HGNC:6418 Entry Withdrawn KRT14L2 -HGNC:6419 Entry Withdrawn KRT14L3 -HGNC:6422 Entry Withdrawn KRT15L -HGNC:6424 Entry Withdrawn KRT16L1 -HGNC:6425 Entry Withdrawn KRT16L2 -HGNC:6437 Entry Withdrawn KRT22 -HGNC:6464 Merged/Split KRTL1 HGNC:6444|KRT6B|Approved -HGNC:6466 Entry Withdrawn KSS -HGNC:6468 Entry Withdrawn KWE -HGNC:6471 Merged/Split LAD HGNC:2898|DLD|Approved -HGNC:6474 Merged/Split LAG1 HGNC:10630|CCL4|Approved -HGNC:6475 Merged/Split LAG2 HGNC:4414|GNLY|Approved -HGNC:6479 Entry Withdrawn LAKLG -HGNC:6489 Merged/Split LAMB2T HGNC:6493|LAMC2|Approved -HGNC:6495 Merged/Split LAMM HGNC:6482|LAMA2|Approved -HGNC:6496 Merged/Split LAMNA HGNC:6483|LAMA3|Approved -HGNC:6497 Merged/Split LAMNB1 HGNC:6490|LAMB3|Approved -HGNC:6498 Merged/Split LAMNB2 HGNC:6493|LAMC2|Approved -HGNC:6507 Merged/Split LAMS HGNC:6487|LAMB2|Approved -HGNC:6516 Merged/Split LBC HGNC:371|AKAP13|Approved -HGNC:6519 Merged/Split LCA HGNC:4689|GUCY2D|Approved -HGNC:6520 Merged/Split LCA3 HGNC:20423|SPATA7|Approved -HGNC:6521 Merged/Split LCA4 HGNC:359|AIPL1|Approved -HGNC:6523 Merged/Split LCD1 HGNC:11771|TGFBI|Approved -HGNC:6531 Merged/Split LD HGNC:3768|FMN1|Approved -HGNC:6534 Merged/Split LDC HGNC:6724|LUM|Approved -HGNC:6549 Merged/Split LE HGNC:4014|FUT3|Approved -HGNC:6557 Merged/Split LEU1 HGNC:1685|CD5|Approved -HGNC:6558 Merged/Split LEU7 HGNC:921|B3GAT1|Approved -HGNC:6559 Merged/Split LFA3 HGNC:1688|CD58|Approved -HGNC:6571 Merged/Split LGCR HGNC:3512|EXT1|Approved -HGNC:6573 Merged/Split LGMD1 HGNC:12399|MYOT|Approved -HGNC:6574 Merged/Split LGMD1A HGNC:12399|MYOT|Approved -HGNC:6575 Merged/Split LGMD1B HGNC:6636|LMNA|Approved -HGNC:6576 Merged/Split LGMD1D HGNC:14888|DNAJB6|Approved -HGNC:6577 Merged/Split LGMD2 HGNC:1480|CAPN3|Approved -HGNC:6578 Merged/Split LGMD2A HGNC:1480|CAPN3|Approved -HGNC:6579 Merged/Split LGMD2B HGNC:3097|DYSF|Approved -HGNC:6580 Merged/Split LGMD2C HGNC:10809|SGCG|Approved -HGNC:6581 Merged/Split LGMD2G HGNC:11610|TCAP|Approved -HGNC:6582 Merged/Split LGMD2H HGNC:16380|TRIM32|Approved -HGNC:6590 Merged/Split LHFPL4 HGNC:6589|LHFPL3|Approved -HGNC:6591 Merged/Split LHON HGNC:7459|MT-ND4|Approved -HGNC:6592 Merged/Split LHRH HGNC:4419|GNRH1|Approved -HGNC:6599 Merged/Split LIG2 HGNC:6600|LIG3|Approved -HGNC:6611 Merged/Split LIMAB1 HGNC:78|ABLIM1|Approved -HGNC:6615 Merged/Split LIMM HGNC:7499|MT-TT|Approved -HGNC:6620 Merged/Split LIPD HGNC:6677|LPL|Approved -HGNC:6624 Merged/Split LKP HGNC:2750|DHX9|Approved -HGNC:6625 Merged/Split LLCDL1 HGNC:3574|FADS1|Approved -HGNC:6626 Merged/Split LLCDL2 HGNC:3575|FADS2|Approved -HGNC:6627 Merged/Split LLCDL3 HGNC:3576|FADS3|Approved -HGNC:6630 Entry Withdrawn LLP -HGNC:6634 Merged/Split LMN1 HGNC:6636|LMNA|Approved -HGNC:6635 Merged/Split LMN2 HGNC:6638|LMNB2|Approved -HGNC:6639 Merged/Split LMNL1 HGNC:6636|LMNA|Approved -HGNC:6640 Entry Withdrawn LMNL2 -HGNC:6650 Merged/Split LMP2 HGNC:9546|PSMB9|Approved -HGNC:6651 Merged/Split LMP7 HGNC:9545|PSMB8|Approved -HGNC:6652 Merged/Split LMX1 HGNC:6653|LMX1A|Approved -HGNC:6655 Merged/Split LNHR HGNC:10720|SELL|Approved -HGNC:6659 Merged/Split LOH18CR1 HGNC:11908|TNFRSF11A|Approved -HGNC:6660 Merged/Split LOH19CR1 HGNC:10402|RPS19|Approved -HGNC:6669 Merged/Split APOAL HGNC:21210|LPAL2|Approved -HGNC:6670 Merged/Split LPC1 HGNC:533|ANXA1|Approved -HGNC:6671 Merged/Split LPC2A HGNC:538|ANXA2P1|Approved -HGNC:6672 Merged/Split LPC2B HGNC:539|ANXA2P2|Approved -HGNC:6673 Merged/Split LPC2C HGNC:540|ANXA2P3|Approved -HGNC:6674 Merged/Split LPC2D HGNC:537|ANXA2|Approved -HGNC:6675 Merged/Split LPGP1 HGNC:11800|THRSP|Approved -HGNC:6676 Merged/Split LPI HGNC:11065|SLC7A7|Approved -HGNC:6680 Merged/Split LPS HGNC:6121|IRF6|Approved -HGNC:6681 Merged/Split LQT HGNC:6294|KCNQ1|Approved -HGNC:6682 Merged/Split LQT2 HGNC:6251|KCNH2|Approved -HGNC:6683 Merged/Split LQT3 HGNC:10593|SCN5A|Approved -HGNC:6684 Merged/Split LQT4 HGNC:493|ANK2|Approved -HGNC:6686 Entry Withdrawn L1RE1 -HGNC:6687 Entry Withdrawn L1RE2 -HGNC:6688 Entry Withdrawn LRE3 -HGNC:6689 Entry Withdrawn LRE4 -HGNC:6699 Merged/Split LRP7 HGNC:6697|LRP5|Approved -HGNC:6704 Merged/Split LRS1 HGNC:3755|FLNB|Approved -HGNC:6706 Merged/Split LSH HGNC:10907|SLC11A1|Approved -HGNC:6712 Merged/Split LTB4H HGNC:2646|CYP4F3|Approved -HGNC:6725 Merged/Split LW HGNC:5347|ICAM4|Approved -HGNC:6733 Merged/Split LYAM1 HGNC:10720|SELL|Approved -HGNC:6736 Merged/Split LYP HGNC:10820|SH2D1A|Approved -HGNC:6739 Merged/Split CHS1 HGNC:1968|LYST|Approved -HGNC:6744 Entry Withdrawn M130 -HGNC:6745 Merged/Split M17S1 HGNC:3758|FLOT2|Approved -HGNC:6747 Entry Withdrawn M195 -HGNC:6748 Merged/Split M1S1 HGNC:11530|TACSTD2|Approved -HGNC:6749 Merged/Split M3S1 HGNC:11853|TM4SF1|Approved -HGNC:6750 Merged/Split M4S1 HGNC:11529|EPCAM|Approved -HGNC:6751 Entry Withdrawn M6P2 -HGNC:6753 Merged/Split M6S1 HGNC:3356|ENPP1|Approved -HGNC:6754 Merged/Split M7V1 HGNC:10943|SLC1A5|Approved -HGNC:6755 Entry Withdrawn MAA -HGNC:6756 Merged/Split MAAT1 HGNC:14484|MRPL28|Approved -HGNC:6777 Entry Withdrawn MAFD1 -HGNC:6778 Entry Withdrawn MAFD2 -HGNC:6779 Entry Withdrawn MAFD3 -HGNC:6784 Merged/Split MAGE1 HGNC:6796|MAGEA1|Approved -HGNC:6785 Merged/Split MAGE10 HGNC:6797|MAGEA10|Approved -HGNC:6786 Merged/Split MAGE11 HGNC:6798|MAGEA11|Approved -HGNC:6787 Merged/Split MAGE12 HGNC:6799|MAGEA12|Approved -HGNC:6788 Merged/Split MAGE2 HGNC:6800|MAGEA2|Approved -HGNC:6789 Merged/Split MAGE3 HGNC:6801|MAGEA3|Approved -HGNC:6790 Merged/Split MAGE4 HGNC:6802|MAGEA4|Approved -HGNC:6791 Merged/Split MAGE5 HGNC:6803|MAGEA5P|Approved -HGNC:6792 Merged/Split MAGE6 HGNC:6804|MAGEA6|Approved -HGNC:6793 Merged/Split MAGE7 HGNC:6805|MAGEA7P|Approved -HGNC:6794 Merged/Split MAGE8 HGNC:6806|MAGEA8|Approved -HGNC:6795 Merged/Split MAGE9 HGNC:6807|MAGEA9|Approved -HGNC:6820 Merged/Split MAM HGNC:10809|SGCG|Approved -HGNC:6828 Merged/Split MANA1 HGNC:6827|MAN2C1|Approved -HGNC:6829 Merged/Split MANA2 HGNC:6824|MAN2A1|Approved -HGNC:6830 Merged/Split MANB HGNC:6826|MAN2B1|Approved -HGNC:6832 Entry Withdrawn MANBB -HGNC:6837 Merged/Split MAP1L HGNC:6835|MAP1A|Approved -HGNC:6870 Merged/Split MAPE HGNC:9336|PRAME|Approved -HGNC:6894 Merged/Split MAPTL HGNC:6893|MAPT|Approved -HGNC:6900 Merged/Split MASA HGNC:6470|L1CAM|Approved -HGNC:6911 Merged/Split MATR1 HGNC:10955|SLCO2A1|Approved -HGNC:6920 Merged/Split MBL HGNC:6922|MBL2|Approved -HGNC:6926 Entry Withdrawn MBS1 -HGNC:6927 Entry Withdrawn MBS2 -HGNC:6928 Entry Withdrawn MBS3 -HGNC:6939 Entry Withdrawn MCDR1 -HGNC:6941 Merged/Split MCKD1 HGNC:7508|MUC1|Approved -HGNC:6942 Entry Withdrawn MCKD2 -HGNC:6951 Merged/Split MCNAA HGNC:1094|BPHL|Approved -HGNC:6952 Entry Withdrawn MCO -HGNC:6955 Merged/Split MCPH2 HGNC:24502|WDR62|Approved -HGNC:6956 Merged/Split MCPH3 HGNC:18672|CDK5RAP2|Approved -HGNC:6957 Merged/Split MCPH4 HGNC:24054|KNL1|Approved -HGNC:6958 Merged/Split MCPH5 HGNC:19048|ASPM|Approved -HGNC:6961 Merged/Split MCS HGNC:24931|ZC4H2|Approved -HGNC:6963 Merged/Split MDC HGNC:189|ADAM11|Approved -HGNC:6964 Merged/Split MDCR HGNC:8574|PAFAH1B1|Approved -HGNC:6965 Entry Withdrawn MDF1 -HGNC:6966 Merged/Split MDF2 HGNC:6153|ITGB1|Approved -HGNC:6969 Merged/Split MDGI HGNC:3557|FABP3|Approved -HGNC:6975 Merged/Split MDR1 HGNC:40|ABCB1|Approved -HGNC:6976 Merged/Split MDR3 HGNC:45|ABCB4|Approved -HGNC:6977 Merged/Split MDRS1 HGNC:15999|SELENON|Approved -HGNC:6978 Entry Withdrawn MDRV -HGNC:6979 Merged/Split MDS1 HGNC:3498|MECOM|Approved -HGNC:6980 Merged/Split MDU1 HGNC:11026|SLC3A2|Approved -HGNC:6981 Merged/Split MDU2 HGNC:1681|CD44|Approved -HGNC:6982 Merged/Split MDU3 HGNC:1681|CD44|Approved -HGNC:6987 Merged/Split MEAX HGNC:22082|VMA21|Approved -HGNC:6988 Merged/Split MEB HGNC:19139|POMGNT1|Approved -HGNC:6989 Merged/Split MECL1 HGNC:9538|PSMB10|Approved -HGNC:6991 Merged/Split MED HGNC:10596|SCN8A|Approved -HGNC:6992 Merged/Split MEF HGNC:6998|MEFV|Approved -HGNC:6999 Entry Withdrawn MEHMO -HGNC:7003 Merged/Split MEKK1 HGNC:6848|MAP3K1|Approved -HGNC:7004 Merged/Split MEKK2 HGNC:6854|MAP3K2|Approved -HGNC:7005 Merged/Split MEKK3 HGNC:6855|MAP3K3|Approved -HGNC:7006 Merged/Split MEKK4 HGNC:6856|MAP3K4|Approved -HGNC:7008 Entry Withdrawn MELAS -HGNC:7009 Entry Withdrawn MELL1 -HGNC:7011 Merged/Split MEN2A HGNC:9967|RET|Approved -HGNC:7012 Merged/Split MEN2B HGNC:9967|RET|Approved -HGNC:7018 Entry Withdrawn MEP1AL3 -HGNC:7019 Entry Withdrawn MEP1AL4 -HGNC:7021 Entry Withdrawn MER1 -HGNC:7022 Entry Withdrawn MER2 -HGNC:7023 Entry Withdrawn MER5 -HGNC:7024 Merged/Split MER6 HGNC:1682|CD47|Approved -HGNC:7025 Entry Withdrawn MERR -HGNC:7026 Merged/Split MERRF HGNC:7489|MT-TK|Approved -HGNC:7031 Merged/Split MF4 HGNC:3672|FGF16|Approved -HGNC:7039 Merged/Split MFS1 HGNC:3603|FBN1|Approved -HGNC:7040 Merged/Split MFS2 HGNC:11773|TGFBR2|Approved -HGNC:7041 Merged/Split MFTL HGNC:10421|RPS3A|Approved -HGNC:7042 Merged/Split MGA1 HGNC:2548|CUBN|Approved -HGNC:7052 Merged/Split MGC1 HGNC:29861|CHRDL1|Approved -HGNC:7053 Merged/Split MGCR HGNC:7180|MN1|Approved -HGNC:7054 Merged/Split MGDF HGNC:11795|THPO|Approved -HGNC:7055 Merged/Split MGEA HGNC:18432|MIA2|Approved -HGNC:7057 Merged/Split CTAGE5 HGNC:18432|MIA2|Approved -HGNC:7058 Merged/Split MGF HGNC:6343|KITLG|Approved -HGNC:7062 Merged/Split MGST1L1 HGNC:9599|PTGES|Approved -HGNC:7065 Entry Withdrawn MHAC -HGNC:7066 Merged/Split MHAM HGNC:9588|PTEN|Approved -HGNC:7068 Merged/Split MHP1 HGNC:1388|CACNA1A|Approved -HGNC:7069 Merged/Split MHP2 HGNC:800|ATP1A2|Approved -HGNC:7070 Merged/Split MHS1 HGNC:10483|RYR1|Approved -HGNC:7071 Entry Withdrawn MHS2 -HGNC:7072 Merged/Split MHS3 HGNC:1399|CACNA2D1|Approved -HGNC:7073 Entry Withdrawn MHS4 -HGNC:7074 Merged/Split MHS5 HGNC:1397|CACNA1S|Approved -HGNC:7075 Entry Withdrawn MHS6 -HGNC:7077 Merged/Split MIC10 HGNC:6953|CD46|Approved -HGNC:7078 Merged/Split MIC11 HGNC:1689|CD59|Approved -HGNC:7079 Entry Withdrawn MIC12 -HGNC:7080 Entry Withdrawn MIC17 -HGNC:7081 Merged/Split MIC18 HGNC:11529|EPCAM|Approved -HGNC:7084 Merged/Split MIC3 HGNC:1709|CD9|Approved -HGNC:7085 Merged/Split MIC4 HGNC:1681|CD44|Approved -HGNC:7086 Merged/Split MIC5 HGNC:6470|L1CAM|Approved -HGNC:7087 Entry Withdrawn MIC6 -HGNC:7088 Entry Withdrawn MIC7 -HGNC:7089 Entry Withdrawn MIC9 -HGNC:7099 Merged/Split MIN1 HGNC:1689|CD59|Approved -HGNC:7100 Merged/Split MIN2 HGNC:1689|CD59|Approved -HGNC:7101 Merged/Split MIN3 HGNC:1689|CD59|Approved -HGNC:7122 Merged/Split MKS2 HGNC:25018|TMEM216|Approved -HGNC:7123 Merged/Split MLA1 HGNC:1692|CD63|Approved -HGNC:7129 Merged/Split MLK1 HGNC:6861|MAP3K9|Approved -HGNC:7130 Merged/Split MLK2 HGNC:6849|MAP3K10|Approved -HGNC:7131 Merged/Split MLK3 HGNC:6850|MAP3K11|Approved -HGNC:7140 Merged/Split MLM HGNC:1787|CDKN2A|Approved -HGNC:7143 Entry Withdrawn MLPL1 -HGNC:7144 Merged/Split MLR HGNC:7979|NR3C2|Approved -HGNC:7145 Merged/Split MLS HGNC:4837|HCCS|Approved -HGNC:7147 Merged/Split MLT HGNC:6819|MALT1|Approved -HGNC:7148 Merged/Split MLVAR HGNC:10947|SLC20A2|Approved -HGNC:7149 Entry Withdrawn MLVI2 -HGNC:7152 Entry Withdrawn MMC -HGNC:7164 Merged/Split MMP18 HGNC:7165|MMP19|Approved -HGNC:7168 Merged/Split MMP21 HGNC:7170|MMP23A|Approved -HGNC:7169 Merged/Split MMP22 HGNC:7171|MMP23B|Approved -HGNC:7177 Merged/Split MMPL1 HGNC:14246|MMP25|Approved -HGNC:7182 Merged/Split MNBH HGNC:3091|DYRK1A|Approved -HGNC:7184 Merged/Split MNG1 HGNC:17098|DICER1|Approved -HGNC:7185 Merged/Split MNGIE HGNC:3148|TYMP|Approved -HGNC:7186 Merged/Split MNK HGNC:869|ATP7A|Approved -HGNC:7187 Merged/Split MNS HGNC:4702|GYPA|Approved, HGNC:4703|GYPB|Approved -HGNC:7192 Merged/Split MOCS1P2 HGNC:7191|MOCS1P1|Approved -HGNC:7194 Merged/Split MODY1 HGNC:5024|HNF4A|Approved -HGNC:7195 Merged/Split MODY2 HGNC:4195|GCK|Approved -HGNC:7196 Merged/Split MODY3 HGNC:11621|HNF1A|Approved -HGNC:7204 Merged/Split MOX44 HGNC:1686|CD53|Approved -HGNC:7205 Merged/Split MPB1 HGNC:3350|ENO1|Approved -HGNC:7206 Merged/Split MPD1 HGNC:7577|MYH7|Approved -HGNC:7209 Entry Withdrawn MPE -HGNC:7210 Entry Withdrawn MPFD -HGNC:7222 Merged/Split MPSL1 HGNC:7174|MMP7|Approved -HGNC:7232 Merged/Split MRP HGNC:51|ABCC1|Approved -HGNC:7233 Merged/Split MRP1 HGNC:51|ABCC1|Approved -HGNC:7235 Merged/Split MRS HGNC:2761|DEFA1|Approved -HGNC:7236 Entry Withdrawn MRSD -HGNC:7238 Merged/Split MRX1 HGNC:29059|IQSEC2|Approved -HGNC:7239 Merged/Split MRX10 HGNC:5996|IL1RAPL1|Approved -HGNC:7240 Entry Withdrawn MRX11 -HGNC:7241 Merged/Split MRX12 HGNC:19073|THOC2|Approved -HGNC:7242 Merged/Split MRX13 HGNC:11114|KDM5C|Approved -HGNC:7243 Entry Withdrawn MRX14 -HGNC:7244 Entry Withdrawn MRX15 -HGNC:7245 Merged/Split MRX16 HGNC:6990|MECP2|Approved -HGNC:7246 Entry Withdrawn MRX17 -HGNC:7247 Merged/Split MRX18 HGNC:29059|IQSEC2|Approved -HGNC:7248 Merged/Split MRX19 HGNC:10432|RPS6KA3|Approved -HGNC:7249 Merged/Split MRX2 HGNC:9330|PQBP1|Approved -HGNC:7250 Entry Withdrawn MRX20 -HGNC:7251 Merged/Split MRX21 HGNC:5996|IL1RAPL1|Approved -HGNC:7252 Merged/Split MRX22 HGNC:10923|SLC16A2|Approved -HGNC:7253 Entry Withdrawn MRX23 -HGNC:7254 Entry Withdrawn MRX24 -HGNC:7255 Entry Withdrawn MRX25 -HGNC:7256 Entry Withdrawn MRX26 -HGNC:7257 Entry Withdrawn MRX27 -HGNC:7258 Entry Withdrawn MRX28 -HGNC:7259 Merged/Split MRX29 HGNC:18060|ARX|Approved -HGNC:7260 Merged/Split MRX3 HGNC:4839|HCFC1|Approved -HGNC:7261 Merged/Split MRX30 HGNC:8592|PAK3|Approved -HGNC:7262 Entry Withdrawn MRX31 -HGNC:7263 Merged/Split MRX32 HGNC:18060|ARX|Approved -HGNC:7264 Merged/Split MRX33 HGNC:18060|ARX|Approved -HGNC:7265 Merged/Split MRX34 HGNC:5996|IL1RAPL1|Approved -HGNC:7266 Merged/Split MRX35 HGNC:19073|THOC2|Approved -HGNC:7267 Merged/Split MRX36 HGNC:18060|ARX|Approved -HGNC:7268 Entry Withdrawn MRX37 -HGNC:7269 Merged/Split MRX38 HGNC:18060|ARX|Approved -HGNC:7270 Entry Withdrawn MRX39 -HGNC:7271 Entry Withdrawn MRX4 -HGNC:7272 Entry Withdrawn MRX40 -HGNC:7273 Merged/Split MRX41 HGNC:4226|GDI1|Approved -HGNC:7274 Entry Withdrawn MRX42 -HGNC:7275 Merged/Split MRX43 HGNC:18060|ARX|Approved -HGNC:7276 Merged/Split MRX44 HGNC:13254|FTSJ1|Approved -HGNC:7277 Merged/Split MRX45 HGNC:13156|ZNF81|Approved -HGNC:7278 Merged/Split MRX46 HGNC:685|ARHGEF6|Approved -HGNC:7279 Merged/Split MRX47 HGNC:8592|PAK3|Approved -HGNC:7280 Merged/Split MRX48 HGNC:4226|GDI1|Approved -HGNC:7281 Entry Withdrawn MRX49 -HGNC:7282 Entry Withdrawn MRX5 -HGNC:7283 Merged/Split MRX50 HGNC:11494|SYN1|Approved -HGNC:7284 Entry Withdrawn MRX51 -HGNC:7285 Merged/Split MRX52 HGNC:886|ATRX|Approved -HGNC:7286 Entry Withdrawn MRX53 -HGNC:7287 Merged/Split MRX54 HGNC:18060|ARX|Approved -HGNC:7288 Merged/Split MRX55 HGNC:9330|PQBP1|Approved -HGNC:7289 Entry Withdrawn MRX56 -HGNC:7290 Entry Withdrawn MRX57 -HGNC:7291 Merged/Split MRX58 HGNC:11854|TSPAN7|Approved -HGNC:7292 Merged/Split MRX59 HGNC:560|AP1S2|Approved -HGNC:7293 Entry Withdrawn MRX6 -HGNC:7294 Merged/Split MRX60 HGNC:8148|OPHN1|Approved -HGNC:7295 Entry Withdrawn MRX61 -HGNC:7296 Merged/Split MRX62 HGNC:20439|UPF3B|Approved -HGNC:7297 Merged/Split MRX63 HGNC:3571|ACSL4|Approved -HGNC:7298 Entry Withdrawn MRX64 -HGNC:7299 Merged/Split MRX65 HGNC:13128|ZNF711|Approved -HGNC:7300 Entry Withdrawn MRX66 -HGNC:7301 Entry Withdrawn MRX67 -HGNC:7302 Merged/Split MRX68 HGNC:3571|ACSL4|Approved -HGNC:7303 Entry Withdrawn MRX69 -HGNC:7304 Entry Withdrawn MRX7 -HGNC:7305 Entry Withdrawn MRX70 -HGNC:7306 Merged/Split MRX72 HGNC:16499|RAB39B|Approved -HGNC:7307 Entry Withdrawn MRX73 -HGNC:7308 Merged/Split MRX74 HGNC:26233|EFHC2|Approved -HGNC:7309 Entry Withdrawn MRX75 -HGNC:7310 Merged/Split MRX76 HGNC:18060|ARX|Approved -HGNC:7311 Entry Withdrawn MRX8 -HGNC:7312 Merged/Split MRX9 HGNC:13254|FTSJ1|Approved -HGNC:7313 Entry Withdrawn MRXS7 -HGNC:7314 Entry Withdrawn MS -HGNC:7320 Merged/Split MSBP3 HGNC:13994|PRDM9|Approved -HGNC:7322 Entry Withdrawn MSD -HGNC:7324 Merged/Split MSG1 HGNC:1986|CITED1|Approved -HGNC:7331 Entry Withdrawn MSK1 -HGNC:7332 Entry Withdrawn MSK10 -HGNC:7333 Entry Withdrawn MSK11 -HGNC:7334 Merged/Split MSK12 HGNC:6153|ITGB1|Approved -HGNC:7335 Entry Withdrawn MSK13 -HGNC:7336 Entry Withdrawn MSK14 -HGNC:7337 Entry Withdrawn MSK15 -HGNC:7338 Merged/Split MSK16 HGNC:319|ACAN|Approved -HGNC:7339 Entry Withdrawn MSK17 -HGNC:7340 Merged/Split MSK18 HGNC:6139|ITGA3|Approved -HGNC:7341 Entry Withdrawn MSK19 -HGNC:7342 Entry Withdrawn MSK2 -HGNC:7343 Entry Withdrawn MSK20 -HGNC:7344 Merged/Split MSK21 HGNC:1689|CD59|Approved -HGNC:7345 Entry Withdrawn MSK22 -HGNC:7346 Entry Withdrawn MSK23 -HGNC:7347 Entry Withdrawn MSK24 -HGNC:7348 Entry Withdrawn MSK25 -HGNC:7349 Entry Withdrawn MSK26 -HGNC:7350 Entry Withdrawn MSK27 -HGNC:7351 Entry Withdrawn MSK28 -HGNC:7352 Entry Withdrawn MSK29 -HGNC:7353 Entry Withdrawn MSK3 -HGNC:7354 Entry Withdrawn MSK30 -HGNC:7355 Entry Withdrawn MSK31 -HGNC:7356 Entry Withdrawn MSK32 -HGNC:7357 Entry Withdrawn MSK33 -HGNC:7358 Entry Withdrawn MSK34 -HGNC:7359 Entry Withdrawn MSK35 -HGNC:7360 Entry Withdrawn MSK36 -HGNC:7361 Entry Withdrawn MSK37 -HGNC:7362 Entry Withdrawn MSK38 -HGNC:7363 Entry Withdrawn MSK39 -HGNC:7364 Entry Withdrawn MSK4 -HGNC:7365 Entry Withdrawn MSK40 -HGNC:7366 Entry Withdrawn MSK41 -HGNC:7367 Entry Withdrawn MSK7 -HGNC:7368 Merged/Split MSK8 HGNC:6150|ITGAV|Approved -HGNC:7369 Entry Withdrawn MSK9 -HGNC:7375 Entry Withdrawn MSNL2 -HGNC:7378 Merged/Split MSS HGNC:24624|SIL1|Approved -HGNC:7379 Merged/Split MSSE HGNC:11772|TGFBR1|Approved -HGNC:7388 Merged/Split MST1P7 HGNC:7390|MST1L|Approved -HGNC:7403 Merged/Split MT1K HGNC:14296|MT1M|Approved -HGNC:7412 Merged/Split MTACR1 HGNC:12797|WT2|Entry Withdrawn -HGNC:7418 Merged/Split MTC1 HGNC:9967|RET|Approved -HGNC:7429 Merged/Split MTH1 HGNC:8048|NUDT1|Approved -HGNC:7430 Merged/Split MTHFC HGNC:7432|MTHFD1|Approved -HGNC:7431 Merged/Split MTHFD HGNC:7432|MTHFD1|Approved -HGNC:7435 Merged/Split MTHFDP1 HGNC:7433|MTHFD1P1|Approved -HGNC:7445 Merged/Split MTL4 HGNC:16120|MT1P3|Approved -HGNC:7474 Merged/Split MTS1 HGNC:10494|S100A4|Approved -HGNC:7503 Merged/Split MTX HGNC:7504|MTX1|Approved -HGNC:7507 Merged/Split MTXP HGNC:7505|MTX1P1|Approved -HGNC:7509 Merged/Split MUC11 HGNC:7510|MUC12|Approved -HGNC:7520 Merged/Split MUC9 HGNC:8524|OVGP1|Approved -HGNC:7522 Entry Withdrawn MUCRX -HGNC:7524 Merged/Split MUM1 HGNC:6119|IRF4|Approved -HGNC:7528 Entry Withdrawn MUW53 -HGNC:7535 Merged/Split MXRA1 HGNC:817|ATP2B4|Approved -HGNC:7536 Merged/Split MXRA2 HGNC:14652|PARVA|Approved -HGNC:7537 Merged/Split MXRA3 HGNC:29300|KANK2|Approved -HGNC:7538 Merged/Split MXRA4 HGNC:15855|CD93|Approved -HGNC:7540 Merged/Split MXRA6 HGNC:11973|TNS1|Approved -HGNC:7543 Merged/Split MXS1 HGNC:11854|TSPAN7|Approved -HGNC:7558 Entry Withdrawn MYCLK1 -HGNC:7560 Entry Withdrawn MYCP -HGNC:7561 Merged/Split MYD118 HGNC:4096|GADD45B|Approved -HGNC:7564 Merged/Split MYF3 HGNC:7611|MYOD1|Approved -HGNC:7570 Merged/Split MYH12 HGNC:7602|MYO5A|Approved -HGNC:7575 Merged/Split MYH5 HGNC:31038|MYH16|Approved -HGNC:7580 Entry Withdrawn MYHK -HGNC:7581 Merged/Split MYHL HGNC:7595|MYO1A|Approved -HGNC:7592 Entry Withdrawn MYLL1 -HGNC:7615 Entry Withdrawn MYP1 -HGNC:7616 Entry Withdrawn MYP2 -HGNC:7617 Entry Withdrawn MYP3 -HGNC:7620 Entry Withdrawn MYSA -HGNC:7621 Merged/Split MYSB HGNC:1402|CACNB2|Approved -HGNC:7624 Entry Withdrawn MYT2 -HGNC:7625 Merged/Split NA HGNC:12811|XK|Approved -HGNC:7628 Merged/Split NAC HGNC:12811|XK|Approved -HGNC:7630 Merged/Split NACB HGNC:1125|BTF3|Approved -HGNC:7633 Merged/Split NAGR1 HGNC:5046|HNRNPM|Approved -HGNC:7635 Merged/Split NAMSD HGNC:8768|AIFM1|Approved -HGNC:7636 Merged/Split NANTA3 HGNC:10864|ST3GAL4|Approved -HGNC:7647 Merged/Split NBCCS HGNC:9585|PTCH1|Approved -HGNC:7649 Merged/Split NBIA1 HGNC:15894|PANK2|Approved -HGNC:7651 Merged/Split NBP1 HGNC:8041|NUBP1|Approved -HGNC:7653 Merged/Split NCA HGNC:1818|CEACAM6|Approved -HGNC:7654 Merged/Split NCAD HGNC:1759|CDH2|Approved -HGNC:7663 Merged/Split NCK HGNC:7664|NCK1|Approved -HGNC:7674 Merged/Split NCX1 HGNC:11068|SLC8A1|Approved -HGNC:7676 Merged/Split NDNL1 HGNC:6814|MAGEL2|Approved -HGNC:7709 Merged/Split NDUFS2L HGNC:7693|NDUFA9|Approved -HGNC:7721 Merged/Split NEC1 HGNC:8743|PCSK1|Approved -HGNC:7722 Merged/Split NEC2 HGNC:8744|PCSK2|Approved -HGNC:7724 Merged/Split NEDD10 HGNC:29416|ZNF618|Approved -HGNC:7725 Merged/Split NEDD2 HGNC:1503|CASP2|Approved -HGNC:7726 Merged/Split NEDD3 HGNC:3029|DRG1|Approved -HGNC:7730 Merged/Split NEDD6 HGNC:10299|RPL10A|Approved -HGNC:7731 Merged/Split NEDD7 HGNC:5229|DNAJA1|Approved -HGNC:7735 Merged/Split NEF4 HGNC:9461|PRPH|Approved -HGNC:7736 Merged/Split NEF5 HGNC:6057|INA|Approved -HGNC:7740 Entry Withdrawn NEFLL1 -HGNC:7741 Entry Withdrawn NEFLL2 -HGNC:7742 Merged/Split NEGF1 HGNC:9630|PTN|Approved -HGNC:7743 Merged/Split NEGF2 HGNC:6972|MDK|Approved -HGNC:7747 Merged/Split STK2 HGNC:11399|NEK4|Approved -HGNC:7752 Merged/Split NEM1 HGNC:12012|TPM3|Approved -HGNC:7753 Merged/Split NEM2 HGNC:7720|NEB|Approved -HGNC:7755 Merged/Split NEP HGNC:2730|DDR1|Approved -HGNC:7757 Merged/Split NET1 HGNC:11051|SLC6A5|Approved -HGNC:7768 Entry Withdrawn NF1L3 -HGNC:7779 Entry Withdrawn NFATC5 -HGNC:7789 Entry Withdrawn NFIXL1 -HGNC:7790 Entry Withdrawn NFIXL2 -HGNC:7791 Entry Withdrawn NFIXL3 -HGNC:7792 Entry Withdrawn NFIXL4 -HGNC:7793 Entry Withdrawn NFIXL5 -HGNC:7796 Merged/Split NFKB3 HGNC:9955|RELA|Approved -HGNC:7810 Merged/Split NGL HGNC:3430|ERBB2|Approved -HGNC:7811 Entry Withdrawn NHCP1 -HGNC:7812 Entry Withdrawn NHCP2 -HGNC:7813 Merged/Split NHE1 HGNC:11071|SLC9A1|Approved -HGNC:7814 Merged/Split NHE2 HGNC:11072|SLC9A2|Approved -HGNC:7815 Merged/Split NHE3 HGNC:11073|SLC9A3|Approved -HGNC:7816 Merged/Split NHE3P HGNC:11074|SLC9A3P1|Approved -HGNC:7822 Entry Withdrawn NIDDM1 -HGNC:7823 Entry Withdrawn NIDDM2 -HGNC:7826 Entry Withdrawn NIP1L -HGNC:7829 Merged/Split NKG2 HGNC:6374|KLRC1|Approved -HGNC:7831 Merged/Split NKR HGNC:6373|KLRB1|Approved -HGNC:7832 Entry Withdrawn NKS1 -HGNC:7834 Merged/Split NKX2A HGNC:11825|NKX2-1|Approved -HGNC:7840 Merged/Split NLVCF HGNC:14491|MRPL40|Approved -HGNC:7841 Entry Withdrawn NM -HGNC:7844 Merged/Split NMDAR1 HGNC:4584|GRIN1|Approved -HGNC:7845 Merged/Split NMDAR2A HGNC:4585|GRIN2A|Approved -HGNC:7846 Merged/Split NMDAR2B HGNC:4586|GRIN2B|Approved -HGNC:7847 Merged/Split NMDAR2C HGNC:4587|GRIN2C|Approved -HGNC:7848 Merged/Split NMDARA1 HGNC:4589|GRINA|Approved -HGNC:7855 Merged/Split NMOR1 HGNC:2874|NQO1|Approved -HGNC:7862 Entry Withdrawn NNO1 -HGNC:7868 Entry Withdrawn NOL2 -HGNC:7888 Merged/Split NOVA3 HGNC:7887|NOVA2|Approved -HGNC:7893 Merged/Split NPAP60L HGNC:8065|NUP50|Approved -HGNC:7902 Merged/Split NPH1 HGNC:7905|NPHP1|Approved -HGNC:7903 Merged/Split NPHL1 HGNC:2023|CLCN5|Approved -HGNC:7904 Merged/Split NPHL2 HGNC:2023|CLCN5|Approved -HGNC:7906 Merged/Split NPHP2 HGNC:17870|INVS|Approved -HGNC:7917 Merged/Split NPM1P15 HGNC:7923|NPM1P3|Approved -HGNC:7918 Merged/Split NPM1P16 HGNC:7927|NPM1P7|Approved -HGNC:7932 Merged/Split NPMP1 HGNC:7911|NPM1P1|Approved -HGNC:7933 Merged/Split NPMP2 HGNC:7922|NPM1P2|Approved -HGNC:7934 Merged/Split NPMP3 HGNC:7923|NPM1P3|Approved -HGNC:7935 Merged/Split NPMP4 HGNC:7924|NPM1P4|Approved -HGNC:7936 Merged/Split NPMP5 HGNC:7925|NPM1P5|Approved -HGNC:7937 Merged/Split NPMP6 HGNC:7926|NPM1P6|Approved -HGNC:7938 Merged/Split NPMP7 HGNC:7927|NPM1P7|Approved -HGNC:7942 Merged/Split NPPS HGNC:3356|ENPP1|Approved -HGNC:7946 Merged/Split NPRA HGNC:7943|NPR1|Approved -HGNC:7947 Merged/Split NPRB HGNC:7944|NPR2|Approved -HGNC:7948 Merged/Split NPRC HGNC:7945|NPR3|Approved -HGNC:7949 Merged/Split NPS1 HGNC:6654|LMX1B|Approved -HGNC:7950 Merged/Split NPT1 HGNC:10929|SLC17A1|Approved -HGNC:7951 Merged/Split NPT2 HGNC:11019|SLC34A1|Approved -HGNC:7964 Entry Withdrawn NR1H1 -HGNC:7986 Merged/Split NRAMP1 HGNC:10907|SLC11A1|Approved -HGNC:7987 Merged/Split NRAMP2 HGNC:10908|SLC11A2|Approved -HGNC:7990 Entry Withdrawn NRASL1 -HGNC:7991 Entry Withdrawn NRASL2 -HGNC:7992 Entry Withdrawn NRASL3 -HGNC:8006 Merged/Split NRPB HGNC:3345|ENC1|Approved -HGNC:8012 Merged/Split NS1 HGNC:9644|PTPN11|Approved -HGNC:8018 Merged/Split NSP HGNC:10467|RTN1|Approved -HGNC:8019 Merged/Split NSX HGNC:9173|POLA1|Approved -HGNC:8020 Entry Withdrawn NT3 -HGNC:8034 Merged/Split NTRK4 HGNC:2730|DDR1|Approved -HGNC:8035 Merged/Split NTRKR1 HGNC:10256|ROR1|Approved -HGNC:8036 Merged/Split NTRKR2 HGNC:10257|ROR2|Approved -HGNC:8037 Merged/Split NTRKR3 HGNC:2731|DDR2|Approved -HGNC:8069 Merged/Split NURR1 HGNC:7981|NR4A2|Approved -HGNC:8080 Entry Withdrawn NYS2 -HGNC:8081 Entry Withdrawn NYS3 -HGNC:8083 Merged/Split OA1 HGNC:20145|GPR143|Approved -HGNC:8084 Entry Withdrawn OA3 -HGNC:8085 Entry Withdrawn OAP -HGNC:8089 Entry Withdrawn OASD -HGNC:8098 Merged/Split OB HGNC:6553|LEP|Approved -HGNC:8099 Merged/Split OBS HGNC:6553|LEP|Approved -HGNC:8102 Merged/Split OCD1 HGNC:11050|SLC6A4|Approved -HGNC:8103 Entry Withdrawn OCLM -HGNC:8106 Merged/Split OCP1 HGNC:13581|FBXO2|Approved -HGNC:8107 Merged/Split OCP2 HGNC:33696|SKP1P1|Approved -HGNC:8112 Merged/Split ODDD HGNC:4274|GJA1|Approved -HGNC:8115 Merged/Split ODG1 HGNC:3969|FSHR|Approved -HGNC:8116 Merged/Split ODT1 HGNC:3157|EDA|Approved -HGNC:8118 Entry Withdrawn OED -HGNC:8119 Entry Withdrawn OFC# -HGNC:8120 Entry Withdrawn OFC1 -HGNC:8121 Entry Withdrawn OFC2 -HGNC:8122 Entry Withdrawn OFC3 -HGNC:8123 Merged/Split CXorf5 HGNC:2567|OFD1|Approved -HGNC:8128 Merged/Split OI4 HGNC:2198|COL1A2|Approved -HGNC:8129 Merged/Split OIAS HGNC:8086|OAS1|Approved -HGNC:8130 Merged/Split OK HGNC:1116|BSG|Approved -HGNC:8131 Entry Withdrawn OLFR@ -HGNC:8132 Merged/Split OLFR1 HGNC:8183|OR1D2|Approved -HGNC:8137 Merged/Split ON HGNC:11219|SPARC|Approved -HGNC:8141 Entry Withdrawn OPA2 -HGNC:8144 Merged/Split OPD1 HGNC:3754|FLNA|Approved -HGNC:8145 Merged/Split OPD2 HGNC:3754|FLNA|Approved -HGNC:8146 Entry Withdrawn OPEM -HGNC:8147 Merged/Split OPG HGNC:11909|TNFRSF11B|Approved -HGNC:8150 Merged/Split OPMD HGNC:8565|PABPN1|Approved -HGNC:8151 Merged/Split OPN HGNC:11255|SPP1|Approved -HGNC:8152 Merged/Split OPPG HGNC:6697|LRP5|Approved -HGNC:8159 Merged/Split OPTX2 HGNC:10892|SIX6|Approved -HGNC:8160 Merged/Split OR10A1 HGNC:15131|OR10A5|Approved -HGNC:8164 Merged/Split OR10B2 HGNC:8163|OR10B1P|Approved -HGNC:8167 Merged/Split OR10D2P HGNC:8166|OR10D1P|Approved -HGNC:8187 Merged/Split OR1D6P HGNC:8184|OR1D3P|Approved -HGNC:8188 Merged/Split OR1D7P HGNC:8184|OR1D3P|Approved -HGNC:8192 Merged/Split OR1E4 HGNC:8190|OR1E2|Approved -HGNC:8193 Merged/Split OR1E5 HGNC:8189|OR1E1|Approved -HGNC:8195 Entry Withdrawn OR1F11 -HGNC:8197 Merged/Split OR1F3P HGNC:8196|OR1F2P|Approved -HGNC:8198 Merged/Split OR1F4 HGNC:8194|OR1F1|Approved -HGNC:8199 Merged/Split OR1F5 HGNC:8194|OR1F1|Approved -HGNC:8200 Merged/Split OR1F6 HGNC:8194|OR1F1|Approved -HGNC:8201 Merged/Split OR1F7 HGNC:8194|OR1F1|Approved -HGNC:8202 Merged/Split OR1F8 HGNC:8194|OR1F1|Approved -HGNC:8203 Merged/Split OR1F9 HGNC:8194|OR1F1|Approved -HGNC:8205 Merged/Split OR1G2 HGNC:8204|OR1G1|Approved -HGNC:8210 Merged/Split OR1J3 HGNC:8209|OR1J2|Approved -HGNC:8214 Merged/Split OR1L2 HGNC:8213|OR1L1|Approved -HGNC:8217 Merged/Split OR1L5 HGNC:8216|OR1L4|Approved -HGNC:8219 Merged/Split OR1L7 HGNC:8218|OR1L6|Approved -HGNC:8224 Merged/Split OR1Q2 HGNC:8223|OR1Q1|Approved -HGNC:8225 Merged/Split OR1Q3 HGNC:8223|OR1Q1|Approved -HGNC:8228 Merged/Split OR20A1P HGNC:8226|OR1R1P|Approved -HGNC:8233 Merged/Split OR2A6 HGNC:15084|OR2A14|Approved -HGNC:8235 Merged/Split OR2A8 HGNC:8232|OR2A5|Approved -HGNC:8237 Merged/Split OR2B1P HGNC:8241|OR2B6|Approved -HGNC:8240 Merged/Split OR2B5 HGNC:8241|OR2B6|Approved -HGNC:8243 Merged/Split OR2D1 HGNC:8244|OR2D2|Approved -HGNC:8245 Merged/Split OR2E2 HGNC:15507|OR2E1P|Approved -HGNC:8248 Merged/Split OR2F3 HGNC:8246|OR2F1|Approved -HGNC:8249 Merged/Split OR2F4 HGNC:8246|OR2F1|Approved -HGNC:8250 Merged/Split OR2F5 HGNC:8246|OR2F1|Approved -HGNC:8254 Entry Withdrawn OR2H3 -HGNC:8257 Merged/Split OR2H6 HGNC:8252|OR2H1|Approved -HGNC:8263 Entry Withdrawn OR2K1 -HGNC:8285 Merged/Split OR3A4 HGNC:15510|OR3A4P|Approved -HGNC:8287 Merged/Split OR3A6 HGNC:8284|OR3A3|Approved -HGNC:8288 Merged/Split OR3A7 HGNC:8284|OR3A3|Approved -HGNC:8295 Merged/Split OR4D3 HGNC:8293|OR4D1|Approved -HGNC:8305 Merged/Split OR4H10P HGNC:8312|OR4H6P|Approved -HGNC:8306 Merged/Split OR4H11P HGNC:8312|OR4H6P|Approved -HGNC:8307 Merged/Split OR4H1P HGNC:8312|OR4H6P|Approved -HGNC:8308 Merged/Split OR4H2P HGNC:8312|OR4H6P|Approved -HGNC:8309 Merged/Split OR4H3P HGNC:8312|OR4H6P|Approved -HGNC:8310 Merged/Split OR4H4P HGNC:8312|OR4H6P|Approved -HGNC:8311 Merged/Split OR4H5P HGNC:8312|OR4H6P|Approved -HGNC:8313 Merged/Split OR4H7P HGNC:8312|OR4H6P|Approved -HGNC:8314 Merged/Split OR4H8P HGNC:8312|OR4H6P|Approved -HGNC:8315 Merged/Split OR4H9P HGNC:8312|OR4H6P|Approved -HGNC:8317 Merged/Split OR51B1P HGNC:14703|OR51B2|Approved -HGNC:8321 Merged/Split OR5B11P HGNC:8320|OR5B10P|Approved -HGNC:8325 Merged/Split OR5B4P HGNC:8320|OR5B10P|Approved -HGNC:8326 Merged/Split OR5B5P HGNC:8322|OR5B1P|Approved -HGNC:8327 Merged/Split OR5B6P HGNC:8322|OR5B1P|Approved -HGNC:8328 Merged/Split OR5B7P HGNC:8322|OR5B1P|Approved -HGNC:8329 Merged/Split OR5B8P HGNC:8322|OR5B1P|Approved -HGNC:8330 Merged/Split OR5B9P HGNC:8322|OR5B1P|Approved -HGNC:8332 Merged/Split OR5D11P HGNC:8335|OR5D2P|Approved -HGNC:8333 Merged/Split OR5D12P HGNC:8335|OR5D2P|Approved -HGNC:8334 Merged/Split OR5D1P HGNC:8335|OR5D2P|Approved -HGNC:8337 Merged/Split OR5D4 HGNC:8336|OR5D3P|Approved -HGNC:8338 Merged/Split OR5D5P HGNC:8335|OR5D2P|Approved -HGNC:8339 Merged/Split OR5D6P HGNC:8335|OR5D2P|Approved -HGNC:8340 Merged/Split OR5D7P HGNC:8335|OR5D2P|Approved -HGNC:8341 Merged/Split OR5D8P HGNC:8335|OR5D2P|Approved -HGNC:8345 Merged/Split OR5G2P HGNC:8344|OR5G1P|Approved -HGNC:8353 Merged/Split OR6A1 HGNC:15301|OR6A2|Approved -HGNC:8358 Merged/Split OR7A12P HGNC:8366|OR7A3P|Approved -HGNC:8359 Merged/Split OR7A13P HGNC:8366|OR7A3P|Approved -HGNC:8360 Merged/Split OR7A14P HGNC:8366|OR7A3P|Approved -HGNC:8362 Merged/Split OR7A16P HGNC:8361|OR7A15P|Approved -HGNC:8365 Merged/Split OR7A2 HGNC:8370|OR7A2P|Approved -HGNC:8367 Merged/Split OR7A4P HGNC:8361|OR7A15P|Approved -HGNC:8369 Merged/Split OR7A6P HGNC:8364|OR7A1P|Approved -HGNC:8372 Merged/Split OR7A9P HGNC:8371|OR7A8P|Approved -HGNC:8375 Merged/Split OR7C3 HGNC:8374|OR7C2|Approved -HGNC:8376 Merged/Split OR7C4 HGNC:8373|OR7C1|Approved -HGNC:8379 Merged/Split OR7D3P HGNC:8377|OR7D1P|Approved -HGNC:8388 Merged/Split OR7E17P HGNC:8387|OR7E16P|Approved -HGNC:8392 Merged/Split OR7E20P HGNC:8442|OR7E66P|Approved -HGNC:8399 Merged/Split OR7E27P HGNC:8400|OR7E28P|Approved -HGNC:8403 Entry Withdrawn OR7E30P -HGNC:8405 Merged/Split OR7E32P HGNC:8404|OR7E31P|Approved -HGNC:8407 Entry Withdrawn OR7E34P -HGNC:8413 Merged/Split OR7E3P HGNC:14709|OR7E87P|Approved -HGNC:8414 Merged/Split OR7E40P HGNC:15365|OR7E106P|Approved -HGNC:8416 Merged/Split OR7E42P HGNC:8386|OR7E15P|Approved -HGNC:8418 Entry Withdrawn OR7E44P -HGNC:8419 Entry Withdrawn OR7E45P -HGNC:8422 Entry Withdrawn OR7E48P -HGNC:8423 Merged/Split OR7E49P HGNC:8393|OR7E21P|Approved -HGNC:8425 Merged/Split OR7E50P HGNC:8415|OR7E41P|Approved -HGNC:8426 Merged/Split OR7E51P HGNC:8402|OR7E2P|Approved -HGNC:8427 Entry Withdrawn OR7E52P -HGNC:8429 Merged/Split OR7E54P HGNC:14690|OR7E84P|Approved -HGNC:8431 Merged/Split OR7E56P HGNC:8430|OR7E55P|Approved -HGNC:8432 Entry Withdrawn OR7E57P -HGNC:8433 Merged/Split OR7E58P HGNC:8383|OR7E12P|Approved -HGNC:8436 Merged/Split OR7E60P HGNC:8387|OR7E16P|Approved -HGNC:8437 Merged/Split OR7E61 HGNC:8389|OR7E18P|Approved -HGNC:8439 Merged/Split OR7E63P HGNC:8438|OR7E62P|Approved -HGNC:8440 Merged/Split OR7E64P HGNC:8438|OR7E62P|Approved -HGNC:8441 Merged/Split OR7E65 HGNC:8390|OR7E19P|Approved -HGNC:8443 Merged/Split OR7E67P HGNC:8398|OR7E26P|Approved -HGNC:8444 Merged/Split OR7E68P HGNC:15126|OR7E110P|Approved -HGNC:8445 Merged/Split OR7E69P HGNC:8398|OR7E26P|Approved -HGNC:8446 Merged/Split OR7E6P HGNC:8442|OR7E66P|Approved -HGNC:8447 Merged/Split OR7E70P HGNC:8398|OR7E26P|Approved -HGNC:8448 Merged/Split OR7E71P HGNC:15126|OR7E110P|Approved -HGNC:8449 Merged/Split OR7E72P HGNC:15126|OR7E110P|Approved -HGNC:8450 Merged/Split OR7E73P HGNC:15126|OR7E110P|Approved -HGNC:8451 Merged/Split OR7E74P HGNC:15126|OR7E110P|Approved -HGNC:8452 Merged/Split OR7E75P HGNC:15126|OR7E110P|Approved -HGNC:8453 Merged/Split OR7E76 HGNC:8411|OR7E38P|Approved -HGNC:8454 Entry Withdrawn OR7E77P -HGNC:8455 Merged/Split OR7E78P HGNC:8428|OR7E53P|Approved -HGNC:8456 Merged/Split OR7E79P HGNC:8383|OR7E12P|Approved -HGNC:8459 Entry Withdrawn OR7E9P -HGNC:8460 Merged/Split OR7F2P HGNC:8402|OR7E2P|Approved -HGNC:8461 Merged/Split OR7F3P HGNC:14709|OR7E87P|Approved -HGNC:8462 Merged/Split OR7F4P HGNC:8424|OR7E4P|Approved -HGNC:8463 Merged/Split OR7F5P HGNC:8435|OR7E5P|Approved -HGNC:8464 Merged/Split OR7F6P HGNC:8415|OR7E41P|Approved -HGNC:8479 Merged/Split OR8C3P HGNC:8478|OR8C1P|Approved -HGNC:8480 Merged/Split OR8C4P HGNC:8478|OR8C1P|Approved -HGNC:8483 Merged/Split OR8D3 HGNC:8481|OR8D1|Approved -HGNC:8492 Merged/Split ORCTL2 HGNC:10964|SLC22A18|Approved -HGNC:8493 Merged/Split ORCTL2S HGNC:10965|SLC22A18AS|Approved -HGNC:8500 Merged/Split ORNT1 HGNC:10985|SLC25A15|Approved -HGNC:8501 Merged/Split ORW1 HGNC:3349|ENG|Approved -HGNC:8502 Merged/Split ORW2 HGNC:175|ACVRL1|Approved -HGNC:8505 Merged/Split OSIL HGNC:11280|SQSTM1|Approved -HGNC:8509 Merged/Split OSRC HGNC:9884|RB1|Approved -HGNC:8511 Merged/Split OT HGNC:8528|OXT|Approved -HGNC:8513 Merged/Split OTF3 HGNC:9221|POU5F1|Approved -HGNC:8519 Entry Withdrawn OTSC1 -HGNC:8520 Entry Withdrawn OTSC2 -HGNC:8523 Merged/Split OVD1A HGNC:986|BCKDHA|Approved -HGNC:8530 Merged/Split P HGNC:8101|OCA2|Approved -HGNC:8531 Merged/Split P1 HGNC:18149|A4GALT|Approved -HGNC:8532 Entry Withdrawn P200 -HGNC:8544 Merged/Split P2RY7 HGNC:6713|LTB4R|Approved -HGNC:8545 Merged/Split P4HA HGNC:8546|P4HA1|Approved -HGNC:8552 Merged/Split PAB1 HGNC:8554|PABPC1|Approved -HGNC:8553 Merged/Split PABP2 HGNC:8565|PABPN1|Approved -HGNC:8555 Merged/Split PABPC2 HGNC:8554|PABPC1|Approved -HGNC:8561 Merged/Split PABPCP4 HGNC:8559|PABPC1P2|Approved -HGNC:8562 Merged/Split PABPL1 HGNC:37992|PABPC1P10|Approved -HGNC:8564 Merged/Split PABPL3 HGNC:8556|PABPC3|Approved -HGNC:8580 Merged/Split PAGA HGNC:9352|PRDX1|Approved -HGNC:8581 Merged/Split PAGB HGNC:11711|PRDX1P1|Approved -HGNC:8585 Entry Withdrawn SERPINB2L1 -HGNC:8586 Entry Withdrawn SERPINB2L2 -HGNC:8593 Merged/Split PALB HGNC:12405|TTR|Approved -HGNC:8595 Merged/Split PALS HGNC:2528|CTSC|Approved -HGNC:8597 Merged/Split PANG HGNC:2173|CNTN3|Approved -HGNC:8606 Merged/Split PARK1 HGNC:11138|SNCA|Approved -HGNC:8608 Entry Withdrawn PARK3 -HGNC:8610 Merged/Split PAST1 HGNC:3242|EHD1|Approved -HGNC:8611 Merged/Split PAST2 HGNC:3243|EHD2|Approved -HGNC:8612 Merged/Split PAST3 HGNC:3244|EHD3|Approved -HGNC:8613 Merged/Split PAST4 HGNC:3245|EHD4|Approved -HGNC:8625 Entry Withdrawn PBCRA1 -HGNC:8626 Merged/Split PBDX HGNC:12806|XG|Approved -HGNC:8627 Entry Withdrawn PBG1 -HGNC:8628 Merged/Split PBGD HGNC:4982|HMBS|Approved -HGNC:8629 Merged/Split PBM1 HGNC:7135|AFF1|Approved -HGNC:8631 Merged/Split PBT HGNC:6342|KIT|Approved -HGNC:8639 Merged/Split PCANAP1 HGNC:17885|STEAP2|Approved -HGNC:8640 Merged/Split PCANAP2 HGNC:8642|SLC45A3|Approved -HGNC:8641 Merged/Split PCANAP5 HGNC:31677|ANO7|Approved -HGNC:8643 Merged/Split PCANAP7 HGNC:11514|SYT7|Approved -HGNC:8644 Merged/Split PCANAP8 HGNC:8642|SLC45A3|Approved -HGNC:8645 Entry Withdrawn PCAP -HGNC:8658 Merged/Split PCDH2 HGNC:8716|PCDHGC3|Approved -HGNC:8720 Entry Withdrawn PCH1 -HGNC:8721 Entry Withdrawn PCH2 -HGNC:8722 Merged/Split PCHC1 HGNC:6427|KRT17|Approved -HGNC:8726 Merged/Split PCLD HGNC:9411|PRKCSH|Approved -HGNC:8730 Entry Withdrawn PCNAL -HGNC:8731 Entry Withdrawn PCNAP -HGNC:8735 Merged/Split PCNXL1 HGNC:19740|PCNX1|Approved -HGNC:8737 Merged/Split PCOLC HGNC:1067|BMP1|Approved -HGNC:8741 Entry Withdrawn PCOS1 -HGNC:8745 Merged/Split PCSK3 HGNC:8568|FURIN|Approved -HGNC:8753 Merged/Split PCYT1 HGNC:8754|PCYT1A|Approved -HGNC:8757 Entry Withdrawn PDB1 -HGNC:8758 Merged/Split PDB2 HGNC:11908|TNFRSF11A|Approved -HGNC:8771 Merged/Split PDDR HGNC:2606|CYP27B1|Approved -HGNC:8796 Merged/Split PDEA HGNC:8785|PDE6A|Approved -HGNC:8797 Merged/Split PDEB HGNC:8786|PDE6B|Approved -HGNC:8798 Merged/Split PDEG HGNC:8789|PDE6G|Approved -HGNC:8802 Merged/Split PDGFR HGNC:8804|PDGFRB|Approved -HGNC:8813 Merged/Split PDNP1 HGNC:3356|ENPP1|Approved -HGNC:8814 Merged/Split PDNP2 HGNC:3357|ENPP2|Approved -HGNC:8815 Merged/Split PDNP3 HGNC:3358|ENPP3|Approved -HGNC:8817 Entry Withdrawn PDR -HGNC:8825 Entry Withdrawn PEE1 -HGNC:8832 Merged/Split PENT HGNC:9160|PNMT|Approved -HGNC:8833 Merged/Split PEO HGNC:1160|TWNK|Approved -HGNC:8834 Merged/Split PEO1 HGNC:1160|TWNK|Approved -HGNC:8835 Merged/Split PEO2 HGNC:10990|SLC25A4|Approved -HGNC:8836 Merged/Split PEO3 HGNC:10990|SLC25A4|Approved -HGNC:8837 Merged/Split PEPA HGNC:24437|CNDP2|Approved -HGNC:8842 Merged/Split PEPN HGNC:500|ANPEP|Approved -HGNC:8843 Merged/Split PEPS HGNC:18449|LAP3|Approved -HGNC:8844 Merged/Split PER HGNC:8845|PER1|Approved -HGNC:8865 Merged/Split PFD HGNC:2771|CFD|Approved -HGNC:8870 Merged/Split PFIC1 HGNC:3706|ATP8B1|Approved -HGNC:8871 Merged/Split PFIC2 HGNC:42|ABCB11|Approved -HGNC:8879 Merged/Split PFKX HGNC:8877|PFKM|Approved -HGNC:8880 Merged/Split PFM1 HGNC:7392|MSX2|Approved -HGNC:8884 Entry Withdrawn PGA@ -HGNC:8894 Merged/Split PGFL HGNC:8893|PGF|Approved -HGNC:8900 Merged/Split PGL1 HGNC:10683|SDHD|Approved -HGNC:8901 Merged/Split PGL2 HGNC:26034|SDHAF2|Approved -HGNC:8902 Merged/Split PGL3 HGNC:10682|SDHC|Approved -HGNC:8911 Merged/Split MRXS5 HGNC:560|AP1S2|Approved -HGNC:8917 Merged/Split PHC HGNC:10989|SLC25A3|Approved -HGNC:8922 Merged/Split PHF4 HGNC:25161|PHF21B|Approved -HGNC:8924 Merged/Split PHK HGNC:8926|PHKA2|Approved -HGNC:8935 Merged/Split PHLL1 HGNC:2384|CRY1|Approved -HGNC:8936 Merged/Split PHP HGNC:11199|SOX3|Approved -HGNC:8937 Merged/Split PHS HGNC:4319|GLI3|Approved -HGNC:8938 Merged/Split PHTF HGNC:8939|PHTF1|Approved -HGNC:8954 Entry Withdrawn PI8L2 -HGNC:8969 Merged/Split PIH HGNC:8825|PEE1|Entry Withdrawn -HGNC:8970 Merged/Split PIK3C1 HGNC:8976|PIK3CB|Approved -HGNC:8990 Entry Withdrawn PIN1L2 -HGNC:8991 Entry Withdrawn PIN3 -HGNC:9000 Merged/Split PIT1 HGNC:9210|POU1F1|Approved -HGNC:9010 Merged/Split PKD2L HGNC:9011|PKD2L1|Approved -HGNC:9013 Entry Withdrawn PKD3 -HGNC:9014 Merged/Split PKDL HGNC:9011|PKD2L1|Approved -HGNC:9027 Merged/Split PLA2A HGNC:9030|PLA2G1B|Approved -HGNC:9028 Merged/Split PLA2B HGNC:9031|PLA2G2A|Approved -HGNC:9034 Merged/Split PLA2G4 HGNC:9035|PLA2G4A|Approved -HGNC:9041 Merged/Split PLA2L HGNC:8100|OC90|Approved -HGNC:9048 Merged/Split PLANH1 HGNC:8583|SERPINE1|Approved -HGNC:9049 Merged/Split PLANH2 HGNC:8584|SERPINB2|Approved -HGNC:9050 Merged/Split PLANH3 HGNC:8723|SERPINA5|Approved -HGNC:9054 Merged/Split PLC1 HGNC:9065|PLCG1|Approved -HGNC:9078 Merged/Split PLM HGNC:4025|FXYD1|Approved -HGNC:9079 Merged/Split PLML HGNC:4027|FXYD3|Approved -HGNC:9084 Merged/Split PLOSL HGNC:12449|TYROBP|Approved -HGNC:9085 Merged/Split PLP HGNC:9086|PLP1|Approved -HGNC:9088 Merged/Split PLPB1 HGNC:7622|MYT1|Approved -HGNC:9094 Merged/Split PLXN1 HGNC:9099|PLXNA1|Approved -HGNC:9095 Merged/Split PLXN2 HGNC:9100|PLXNA2|Approved -HGNC:9096 Merged/Split PLXN4 HGNC:9101|PLXNA3|Approved -HGNC:9097 Merged/Split PLXN5 HGNC:9103|PLXNB1|Approved -HGNC:9098 Merged/Split PLXN6 HGNC:9105|PLXNB3|Approved -HGNC:9120 Entry Withdrawn PMPS -HGNC:9131 Merged/Split PMS2L6 HGNC:9123|PMS2P1|Approved -HGNC:9132 Merged/Split PMS2L7 HGNC:9123|PMS2P1|Approved -HGNC:9133 Merged/Split PMS2L8 HGNC:9123|PMS2P1|Approved -HGNC:9134 Merged/Split PMS2L9 HGNC:9128|PMS2P3|Approved -HGNC:9136 Merged/Split PMS2LP2 HGNC:33515|PMS2P7|Approved -HGNC:9139 Merged/Split PMSL1 HGNC:9121|PMS1|Approved -HGNC:9140 Merged/Split PMSL2 HGNC:9122|PMS2|Approved -HGNC:9144 Merged/Split PND HGNC:7939|NPPA|Approved -HGNC:9145 Entry Withdrawn PNI1 -HGNC:9146 Entry Withdrawn PNI2 -HGNC:9147 Entry Withdrawn PNIA1 -HGNC:9148 Entry Withdrawn PNIA2 -HGNC:9149 Entry Withdrawn PNIA3 -HGNC:9150 Entry Withdrawn PNIA4 -HGNC:9151 Entry Withdrawn PNIA5 -HGNC:9152 Entry Withdrawn PNIA6 -HGNC:9161 Entry Withdrawn PNMTP1 -HGNC:9166 Entry Withdrawn PNY1 -HGNC:9167 Entry Withdrawn PNY2 -HGNC:9168 Entry Withdrawn PNY3 -HGNC:9169 Entry Withdrawn PNY4 -HGNC:9170 Entry Withdrawn PNY5 -HGNC:9172 Merged/Split POF1 HGNC:3775|FMR1|Approved -HGNC:9209 Merged/Split PORC HGNC:4982|HMBS|Approved -HGNC:9231 Merged/Split PPAR HGNC:9232|PPARA|Approved -HGNC:9233 Entry Withdrawn PPARAL -HGNC:9242 Merged/Split PPD HGNC:5147|HPD|Approved -HGNC:9252 Merged/Split PPH1 HGNC:1078|BMPR2|Approved -HGNC:9265 Entry Withdrawn PPIAP12 -HGNC:9274 Merged/Split PPLA2 HGNC:9030|PLA2G1B|Approved -HGNC:9292 Merged/Split PPP1R3 HGNC:9291|PPP1R3A|Approved -HGNC:9321 Merged/Split PPP5 HGNC:9322|PPP5C|Approved -HGNC:9324 Merged/Split PPT HGNC:9325|PPT1|Approved -HGNC:9331 Merged/Split PQBP2 HGNC:24928|VPS37A|Approved -HGNC:9332 Merged/Split PQBP3 HGNC:21040|NOL7|Approved -HGNC:9333 Entry Withdrawn PQBP4 -HGNC:9334 Merged/Split PQBP5 HGNC:25862|NOL10|Approved -HGNC:9335 Entry Withdrawn PR@ -HGNC:9342 Merged/Split PRCA1 HGNC:10050|RNASEL|Approved -HGNC:9345 Entry Withdrawn PRD -HGNC:9365 Merged/Split PRGS HGNC:4163|GART|Approved -HGNC:9368 Merged/Split PRHX HGNC:4901|HHEX|Approved -HGNC:9371 Entry Withdrawn PRIM2B -HGNC:9372 Merged/Split PRIP HGNC:9449|PRNP|Approved -HGNC:9373 Merged/Split PRKA1 HGNC:367|AKAP1|Approved -HGNC:9374 Merged/Split PRKA2 HGNC:372|AKAP2|Approved -HGNC:9375 Merged/Split PRKAA HGNC:9377|PRKAA2|Approved -HGNC:9383 Merged/Split PRKACN1 HGNC:9017|PKIA|Approved -HGNC:9384 Merged/Split PRKACN2 HGNC:9018|PKIB|Approved -HGNC:9396 Merged/Split PRKCB2 HGNC:9395|PRKCB|Approved -HGNC:9409 Merged/Split PRKCNH1 HGNC:4912|HINT1|Approved -HGNC:9415 Merged/Split PRKG1B HGNC:9414|PRKG1|Approved -HGNC:9417 Merged/Split PRKGR1B HGNC:9414|PRKG1|Approved -HGNC:9418 Merged/Split PRKM1 HGNC:6871|MAPK1|Approved -HGNC:9419 Merged/Split PRKM11 HGNC:6873|MAPK11|Approved -HGNC:9420 Merged/Split PRKM13 HGNC:6875|MAPK13|Approved -HGNC:9421 Merged/Split PRKM2 HGNC:6871|MAPK1|Approved -HGNC:9422 Merged/Split PRKM3 HGNC:6877|MAPK3|Approved -HGNC:9423 Merged/Split PRKM4 HGNC:6878|MAPK4|Approved -HGNC:9424 Merged/Split PRKM6 HGNC:6879|MAPK6|Approved -HGNC:9425 Merged/Split PRKM7 HGNC:6880|MAPK7|Approved -HGNC:9426 Merged/Split PRKM8 HGNC:6881|MAPK8|Approved -HGNC:9427 Merged/Split PRKM8IP HGNC:6882|MAPK8IP1|Approved -HGNC:9428 Merged/Split PRKM8IPL HGNC:6883|MAPK8IP2|Approved -HGNC:9429 Merged/Split PRKM8IPP HGNC:6885|MAPK8IP1P1|Approved -HGNC:9430 Merged/Split PRKM9 HGNC:6886|MAPK9|Approved -HGNC:9431 Merged/Split PRKMK1 HGNC:6840|MAP2K1|Approved -HGNC:9432 Merged/Split PRKMK2 HGNC:6842|MAP2K2|Approved -HGNC:9433 Merged/Split PRKMK3 HGNC:6843|MAP2K3|Approved -HGNC:9434 Merged/Split PRKMK5 HGNC:6845|MAP2K5|Approved -HGNC:9435 Merged/Split PRKMK6 HGNC:6846|MAP2K6|Approved -HGNC:9436 Merged/Split PRKMK7 HGNC:6847|MAP2K7|Approved -HGNC:9450 Merged/Split PRO1 HGNC:6636|LMNA|Approved -HGNC:9471 Entry Withdrawn PRS -HGNC:9473 Merged/Split PRSM1 HGNC:8740|CHMP1A|Approved -HGNC:9474 Entry Withdrawn PRSM2 -HGNC:9478 Merged/Split PRSS14 HGNC:11344|ST14|Approved -HGNC:9481 Merged/Split PRSS17 HGNC:6365|KLK4|Approved -HGNC:9482 Merged/Split PRSS19 HGNC:6369|KLK8|Approved -HGNC:9484 Merged/Split PRSS20 HGNC:6359|KLK11|Approved -HGNC:9487 Merged/Split PRSS4 HGNC:9486|PRSS3|Approved -HGNC:9488 Merged/Split PRSS5 HGNC:6901|MASP1|Approved -HGNC:9489 Merged/Split PRSS6 HGNC:6368|KLK7|Approved -HGNC:9492 Merged/Split PRSS9 HGNC:6367|KLK6|Approved -HGNC:9493 Merged/Split PRSSL1 HGNC:6358|KLK10|Approved -HGNC:9494 Merged/Split PRTH HGNC:11799|THRB|Approved -HGNC:9496 Merged/Split PRTS HGNC:18060|ARX|Approved -HGNC:9497 Merged/Split PSACH HGNC:2227|COMP|Approved -HGNC:9499 Merged/Split PSBP1 HGNC:7050|SCGB2A2|Approved -HGNC:9503 Merged/Split PSCD2L HGNC:9502|CYTH2|Approved -HGNC:9510 Entry Withdrawn PSF1 -HGNC:9511 Entry Withdrawn PSF2 -HGNC:9512 Entry Withdrawn PSF3 -HGNC:9513 Entry Withdrawn PSF4 -HGNC:9517 Merged/Split PSG12 HGNC:9515|PSG10P|Approved -HGNC:9518 Merged/Split PSG13 HGNC:9516|PSG11|Approved -HGNC:9528 Merged/Split PSIP2 HGNC:9527|PSIP1|Approved -HGNC:9572 Merged/Split PSOR1 HGNC:10497|S100A7|Approved -HGNC:9573 Merged/Split PSORS1 HGNC:4933|HLA-C|Approved -HGNC:9574 Merged/Split PSORS2 HGNC:16446|CARD14|Approved -HGNC:9575 Entry Withdrawn PSORS3 -HGNC:9576 Merged/Split PSP HGNC:9577|PSPH|Approved -HGNC:9610 Merged/Split PTK1 HGNC:6850|MAP3K11|Approved -HGNC:9613 Merged/Split PTK3A HGNC:2730|DDR1|Approved -HGNC:9614 Entry Withdrawn PTK3B -HGNC:9615 Merged/Split PTK4 HGNC:12434|TXK|Approved -HGNC:9616 Merged/Split PTK5 HGNC:3955|FRK|Approved -HGNC:9619 Merged/Split PTK8 HGNC:7381|MST1R|Approved -HGNC:9622 Entry Withdrawn PTLAH -HGNC:9631 Entry Withdrawn PTOS1 -HGNC:9633 Merged/Split PTP4A HGNC:9635|PTP4A2|Approved -HGNC:9641 Entry Withdrawn PTPLC -HGNC:9643 Merged/Split PTPN10 HGNC:3064|DUSP1|Approved -HGNC:9648 Entry Withdrawn PTPN17 -HGNC:9660 Merged/Split PTPN8 HGNC:9652|PTPN22|Approved -HGNC:9684 Merged/Split PTPRZ HGNC:9685|PTPRZ1|Approved -HGNC:9687 Merged/Split PTPTP1 HGNC:9653|PTPN2P1|Approved -HGNC:9693 Entry Withdrawn PUAB1 -HGNC:9694 Entry Withdrawn PUAB2 -HGNC:9695 Entry Withdrawn PUAB3 -HGNC:9696 Entry Withdrawn PUAB4 -HGNC:9697 Entry Withdrawn PUAB5 -HGNC:9698 Merged/Split PUM HGNC:7508|MUC1|Approved -HGNC:9699 Merged/Split PUMB1 HGNC:402|ALDH1A1|Approved -HGNC:9703 Entry Withdrawn PUT1 -HGNC:9708 Merged/Split PVS HGNC:9705|PVR|Approved -HGNC:9710 Merged/Split PWCR HGNC:11164|SNRPN|Approved -HGNC:9712 Merged/Split PXE HGNC:57|ABCC6|Approved -HGNC:9714 Merged/Split PXMP1 HGNC:67|ABCD3|Approved -HGNC:9715 Merged/Split PXMP1L HGNC:68|ABCD4|Approved -HGNC:9720 Merged/Split PYCD HGNC:2536|CTSK|Approved -HGNC:9724 Entry Withdrawn PYGBL -HGNC:9727 Entry Withdrawn PYHG1 -HGNC:9728 Entry Withdrawn PYHG10 -HGNC:9729 Entry Withdrawn PYHG11 -HGNC:9730 Entry Withdrawn PYHG12 -HGNC:9731 Entry Withdrawn PYHG14 -HGNC:9732 Entry Withdrawn PYHG15 -HGNC:9733 Entry Withdrawn PYHG16 -HGNC:9734 Entry Withdrawn PYHG17 -HGNC:9735 Entry Withdrawn PYHG18 -HGNC:9736 Entry Withdrawn PYHG19 -HGNC:9737 Entry Withdrawn PYHG2 -HGNC:9738 Entry Withdrawn PYHG20 -HGNC:9739 Entry Withdrawn PYHG21 -HGNC:9740 Entry Withdrawn PYHG22 -HGNC:9741 Entry Withdrawn PYHG3 -HGNC:9742 Entry Withdrawn PYHG4 -HGNC:9743 Entry Withdrawn PYHG6 -HGNC:9744 Entry Withdrawn PYHG7 -HGNC:9745 Entry Withdrawn PYHG8 -HGNC:9746 Entry Withdrawn PYHG9 -HGNC:9747 Merged/Split PYK HGNC:8926|PHKA2|Approved -HGNC:9754 Merged/Split QPRS HGNC:3418|EPRS1|Approved -HGNC:9790 Merged/Split RAB8IP HGNC:6864|MAP4K2|Approved -HGNC:9791 Merged/Split RAB8IPL1 HGNC:6865|MAP4K3|Approved -HGNC:9798 Merged/Split RABL HGNC:9785|RAB5C|Approved -HGNC:9805 Entry Withdrawn RACH -HGNC:9810 Merged/Split RAD2 HGNC:3650|FEN1|Approved -HGNC:9815 Merged/Split RAD30B HGNC:9182|POLI|Approved -HGNC:9818 Merged/Split RAD51A HGNC:9817|RAD51|Approved -HGNC:9819 Merged/Split RAD51L1 HGNC:9822|RAD51B|Approved -HGNC:9821 Merged/Split RAD51L3 HGNC:9823|RAD51D|Approved -HGNC:9825 Merged/Split RAD54 HGNC:886|ATRX|Approved -HGNC:9837 Entry Withdrawn RAI4 -HGNC:9838 Entry Withdrawn RAI5 -HGNC:9860 Merged/Split RAP1GN1 HGNC:679|ARHGDIB|Approved -HGNC:9877 Merged/Split RASGRF3 HGNC:9797|RABIF|Approved -HGNC:9880 Merged/Split RASL7A HGNC:17736|RHOQ|Approved -HGNC:9881 Merged/Split RASL7B HGNC:688|RHOJ|Approved -HGNC:9895 Merged/Split RBM1 HGNC:9912|RBMY1A1|Approved -HGNC:9899 Merged/Split RBM2 HGNC:9912|RBMY1A1|Approved -HGNC:9913 Entry Withdrawn RBMY1A2 -HGNC:9924 Merged/Split RBS HGNC:27230|ESCO2|Approved -HGNC:9925 Merged/Split RBTN1 HGNC:6641|LMO1|Approved -HGNC:9926 Merged/Split RBTNL1 HGNC:6642|LMO2|Approved -HGNC:9927 Merged/Split RBTNL2 HGNC:6643|LMO3|Approved -HGNC:9929 Entry Withdrawn RCA1 -HGNC:9930 Entry Withdrawn RCD1 -HGNC:9931 Merged/Split RCE1A HGNC:13721|RCE1|Approved -HGNC:9932 Merged/Split RCH1 HGNC:6395|KPNA2|Approved -HGNC:9933 Merged/Split RCN HGNC:9934|RCN1|Approved -HGNC:9938 Merged/Split RD HGNC:15743|ERMAP|Approved -HGNC:9939 Merged/Split RDH1 HGNC:9940|RDH5|Approved -HGNC:9941 Merged/Split RDRC HGNC:10943|SLC1A5|Approved -HGNC:9943 Merged/Split RDT HGNC:11103|SMARCB1|Approved -HGNC:9947 Merged/Split RECA HGNC:9817|RAD51|Approved -HGNC:9960 Merged/Split RENS1 HGNC:9330|PQBP1|Approved -HGNC:9961 Entry Withdrawn RENS2 -HGNC:10005 Merged/Split RH HGNC:10009|RHD|Approved, HGNC:10008|RHCE|Approved -HGNC:10014 Merged/Split RIEG1 HGNC:9005|PITX2|Approved -HGNC:10015 Entry Withdrawn RIEG2 -HGNC:10016 Merged/Split RIMKLP HGNC:34034|RIMKLBP1|Approved -HGNC:10022 Merged/Split RIR HGNC:581|APBB1|Approved -HGNC:10028 Merged/Split RLNL HGNC:6086|INSL3|Approved -HGNC:10029 Merged/Split RMCH HGNC:2153|CNGB3|Approved -HGNC:10030 Entry Withdrawn RMD1 -HGNC:10032 Entry Withdrawn RMSA1 -HGNC:10033 Merged/Split RN5S HGNC:10034|RN5S1@|Entry Withdrawn -HGNC:10034 Entry Withdrawn RN5S1@ -HGNC:10035 Entry Withdrawn RN5S2@ -HGNC:10036 Entry Withdrawn RN5S3@ -HGNC:10051 Merged/Split RNASEL1 HGNC:69|ABCE1|Approved -HGNC:10052 Merged/Split RNE1 HGNC:10115|SNORA73A|Approved -HGNC:10053 Merged/Split RNE2 HGNC:10107|SNORA62|Approved -HGNC:10054 Merged/Split RNE3 HGNC:10106|SNORA63|Approved -HGNC:10076 Merged/Split RNN HGNC:12324|TRN-GTT2-1|Approved -HGNC:10077 Merged/Split RNNL HGNC:12325|TRNL|Entry Withdrawn -HGNC:10081 Merged/Split RNPU1Z HGNC:11150|SNRNP70|Approved -HGNC:10087 Entry Withdrawn RNRP1 -HGNC:10088 Entry Withdrawn RNRP2 -HGNC:10089 Merged/Split RNS1 HGNC:10044|RNASE1|Approved -HGNC:10090 Merged/Split RNS2 HGNC:10045|RNASE2|Approved -HGNC:10091 Merged/Split RNS3 HGNC:10046|RNASE3|Approved -HGNC:10092 Merged/Split RNS4 HGNC:10050|RNASEL|Approved -HGNC:10093 Merged/Split RNS4I HGNC:69|ABCE1|Approved -HGNC:10094 Merged/Split RNS6 HGNC:10048|RNASE6|Approved -HGNC:10095 Merged/Split RNU1 HGNC:10120|RNU1-1|Approved -HGNC:10102 Merged/Split RNU105A HGNC:10116|SNORA73B|Approved -HGNC:10117 Merged/Split RNU17C HGNC:10118|SNHG3|Approved -HGNC:10121 Merged/Split RNU1A3 HGNC:10120|RNU1-1|Approved -HGNC:10124 Merged/Split RNU1C2 HGNC:10123|RNU1-2|Approved -HGNC:10125 Merged/Split RNU1D2 HGNC:10128|RNU1-4|Approved -HGNC:10126 Merged/Split RNU1E2 HGNC:10128|RNU1-4|Approved -HGNC:10127 Merged/Split RNU1F1 HGNC:10128|RNU1-4|Approved -HGNC:10129 Merged/Split RNU1G2 HGNC:10128|RNU1-4|Approved -HGNC:10131 Merged/Split RNU1G4 HGNC:10120|RNU1-1|Approved -HGNC:10132 Merged/Split RNU1P1 HGNC:48304|RNU1-5P|Approved -HGNC:10134 Merged/Split RNVU1-11 HGNC:48308|RNVU1-2|Approved -HGNC:10135 Entry Withdrawn RNU1P3 -HGNC:10136 Entry Withdrawn RNU1P4 -HGNC:10138 Merged/Split RNU1-13P HGNC:48308|RNVU1-2|Approved -HGNC:10141 Merged/Split RNU1P9 HGNC:48304|RNU1-5P|Approved -HGNC:10156 Entry Withdrawn RNU3 -HGNC:10167 Merged/Split SNORD39 HGNC:10205|SNORD55|Approved -HGNC:10169 Entry Withdrawn RNU3A2 -HGNC:10170 Entry Withdrawn RNU3A3 -HGNC:10171 Entry Withdrawn RNU3B1 -HGNC:10172 Entry Withdrawn RNU3B2 -HGNC:10173 Entry Withdrawn RNU3B3 -HGNC:10174 Entry Withdrawn RNU3B4 -HGNC:10176 Merged/Split SNORD3P2 HGNC:52239|SNORD3F|Approved -HGNC:10190 Merged/Split RNU4A HGNC:10192|RNU4-1|Approved -HGNC:10191 Merged/Split RNU4-1B HGNC:10193|RNU4-2|Approved -HGNC:10213 Merged/Split RNU5C HGNC:10211|RNU5A-1|Approved -HGNC:10238 Merged/Split RNU7P3 HGNC:34120|RNU7-24P|Approved -HGNC:10255 Merged/Split RONU HGNC:12765|FOXN1|Approved -HGNC:10262 Merged/Split RP HGNC:7414|MT-ATP6|Approved -HGNC:10264 Merged/Split RP10 HGNC:6052|IMPDH1|Approved -HGNC:10265 Merged/Split RP11 HGNC:15446|PRPF31|Approved -HGNC:10266 Merged/Split RP12 HGNC:2343|CRB1|Approved -HGNC:10267 Merged/Split RP13 HGNC:17340|PRPF8|Approved -HGNC:10268 Merged/Split RP14 HGNC:12423|TULP1|Approved -HGNC:10269 Merged/Split RP15 HGNC:10295|RPGR|Approved -HGNC:10270 Entry Withdrawn RP16 -HGNC:10271 Merged/Split RP17 HGNC:1375|CA4|Approved -HGNC:10272 Merged/Split RP18 HGNC:17348|PRPF3|Approved -HGNC:10273 Merged/Split RP19 HGNC:34|ABCA4|Approved -HGNC:10275 Merged/Split RP20 HGNC:10294|RPE65|Approved -HGNC:10276 Entry Withdrawn RP22 -HGNC:10277 Merged/Split RP23 HGNC:2567|OFD1|Approved -HGNC:10278 Entry Withdrawn RP24 -HGNC:10279 Merged/Split RP25 HGNC:21555|EYS|Approved -HGNC:10280 Merged/Split RP26 HGNC:21699|CERKL|Approved -HGNC:10281 Merged/Split RP28 HGNC:25808|FAM161A|Approved -HGNC:10282 Entry Withdrawn RP29 -HGNC:10283 Merged/Split RP3 HGNC:10295|RPGR|Approved -HGNC:10284 Merged/Split RP4 HGNC:10012|RHO|Approved -HGNC:10285 Entry Withdrawn RP5 -HGNC:10286 Entry Withdrawn RP6 -HGNC:10287 Merged/Split RP7 HGNC:9942|PRPH2|Approved -HGNC:10292 Merged/Split RPD3L1 HGNC:4852|HDAC1|Approved -HGNC:10308 Entry Withdrawn RPL17L1 -HGNC:10309 Merged/Split RPL17P HGNC:10367|RPL7P1|Approved -HGNC:10323 Entry Withdrawn RPL23P1 -HGNC:10326 Entry Withdrawn RPL25P1 -HGNC:10365 Entry Withdrawn RPL7AL1 -HGNC:10366 Entry Withdrawn RPL7AP1 -HGNC:10370 Merged/Split RPL9P1 HGNC:30335|RPL9P7|Approved -HGNC:10373 Entry Withdrawn RPLP1L1 -HGNC:10374 Entry Withdrawn RPLP1L2 -HGNC:10375 Entry Withdrawn RPLP1L3 -HGNC:10376 Entry Withdrawn RPLP1L4 -HGNC:10400 Entry Withdrawn RPS17L3 -HGNC:10403 Entry Withdrawn RPS1L -HGNC:10423 Entry Withdrawn RPS3L1 -HGNC:10438 Entry Withdrawn RPS6KB3 -HGNC:10444 Merged/Split RPU1 HGNC:11150|SNRNP70|Approved -HGNC:10453 Entry Withdrawn RRM2P1 -HGNC:10459 Merged/Split RSE HGNC:12446|TYRO3|Approved -HGNC:10460 Merged/Split RSMD1 HGNC:15999|SELENON|Approved -HGNC:10462 Entry Withdrawn RSS -HGNC:10463 Merged/Split RSTS HGNC:2348|CREBBP|Approved -HGNC:10465 Merged/Split RTA1C HGNC:866|ATP6V0A4|Approved -HGNC:10470 Merged/Split RTT HGNC:6990|MECP2|Approved -HGNC:10476 Entry Withdrawn RVNP2 -HGNC:10501 Merged/Split S100D HGNC:10495|S100A5|Approved -HGNC:10502 Merged/Split S100E HGNC:10493|S100A3|Approved -HGNC:10503 Merged/Split S100L HGNC:10492|S100A2|Approved -HGNC:10505 Entry Withdrawn S11 -HGNC:10506 Entry Withdrawn S12 -HGNC:10507 Entry Withdrawn S13 -HGNC:10508 Entry Withdrawn S14 -HGNC:10509 Entry Withdrawn S7 -HGNC:10510 Entry Withdrawn S8 -HGNC:10511 Entry Withdrawn S9 -HGNC:10512 Entry Withdrawn SAA@ -HGNC:10517 Entry Withdrawn SAA5 -HGNC:10523 Entry Withdrawn SAI1 -HGNC:10529 Merged/Split SAP1 HGNC:9498|PSAP|Approved -HGNC:10531 Merged/Split SAP2 HGNC:9498|PSAP|Approved -HGNC:10533 Merged/Split SAPK3 HGNC:6874|MAPK12|Approved -HGNC:10543 Merged/Split SBMA HGNC:644|AR|Approved -HGNC:10544 Merged/Split SC HGNC:15743|ERMAP|Approved -HGNC:10550 Merged/Split SCA11 HGNC:19141|TTBK2|Approved -HGNC:10551 Merged/Split SCA12 HGNC:9305|PPP2R2B|Approved -HGNC:10552 Merged/Split SCA13 HGNC:6235|KCNC3|Approved -HGNC:10553 Merged/Split SCA14 HGNC:9402|PRKCG|Approved -HGNC:10554 Merged/Split SCA16 HGNC:6180|ITPR1|Approved -HGNC:10556 Merged/Split SCA3 HGNC:7106|ATXN3|Approved -HGNC:10557 Merged/Split SCA4 HGNC:24501|PLEKHG4|Approved -HGNC:10558 Merged/Split SCA5 HGNC:11276|SPTBN2|Approved -HGNC:10559 Merged/Split SCA6 HGNC:1388|CACNA1A|Approved -HGNC:10562 Entry Withdrawn SCAF# -HGNC:10568 Merged/Split SCC HGNC:10569|SERPINB3|Approved -HGNC:10574 Merged/Split SCG1 HGNC:1930|CHGB|Approved -HGNC:10578 Merged/Split SCIDA HGNC:17642|DCLRE1C|Approved -HGNC:10579 Merged/Split SCIDX1 HGNC:6010|IL2RG|Approved -HGNC:10584 Merged/Split SCN12A HGNC:10583|SCN11A|Approved -HGNC:10587 Merged/Split SCN2A1 HGNC:10588|SCN2A|Approved -HGNC:10595 Merged/Split SCN6A HGNC:10594|SCN7A|Approved -HGNC:10598 Merged/Split SCNN1 HGNC:10599|SCNN1A|Approved -HGNC:10605 Merged/Split SCOD1 HGNC:10603|SCO1|Approved -HGNC:10636 Merged/Split SCYAR1 HGNC:1602|CCR1|Approved -HGNC:10644 Merged/Split SCYB9B HGNC:10638|CXCL11|Approved -HGNC:10649 Entry Withdrawn SCZD1 -HGNC:10650 Entry Withdrawn SCZD2 -HGNC:10651 Entry Withdrawn SCZD3 -HGNC:10652 Entry Withdrawn SCZD4 -HGNC:10653 Entry Withdrawn SCZD5 -HGNC:10654 Entry Withdrawn SCZD6 -HGNC:10655 Entry Withdrawn SCZD7 -HGNC:10656 Entry Withdrawn SCZD8 -HGNC:10657 Merged/Split SD HGNC:9854|RANGAP1|Approved -HGNC:10670 Merged/Split SDCCAG43 HGNC:14542|WNK2|Approved -HGNC:10673 Merged/Split SDF1A HGNC:10672|CXCL12|Approved -HGNC:10674 Merged/Split SDF1B HGNC:10672|CXCL12|Approved -HGNC:10677 Merged/Split SDGF HGNC:651|AREG|Approved -HGNC:10678 Merged/Split SDH1 HGNC:10681|SDHB|Approved -HGNC:10679 Merged/Split SDH2 HGNC:10680|SDHA|Approved -HGNC:10692 Entry Withdrawn SDU -HGNC:10693 Merged/Split SDYS HGNC:4451|GPC3|Approved -HGNC:10694 Merged/Split SE HGNC:4013|FUT2|Approved -HGNC:10695 Merged/Split SEA HGNC:7381|MST1R|Approved -HGNC:10708 Merged/Split SEDC HGNC:2200|COL2A1|Approved -HGNC:10709 Merged/Split SEDL HGNC:23068|TRAPPC2|Approved -HGNC:10744 Merged/Split SEN1 HGNC:15773|MORF4|Approved -HGNC:10745 Entry Withdrawn SEN2 -HGNC:10746 Entry Withdrawn SEN3 -HGNC:10747 Entry Withdrawn SEN6 -HGNC:10748 Entry Withdrawn SEN6A -HGNC:10749 Entry Withdrawn SEN6B -HGNC:10754 Merged/Split SERF1 HGNC:10755|SERF1A|Approved -HGNC:10758 Merged/Split SERK1 HGNC:6844|MAP2K4|Approved -HGNC:10764 Entry Withdrawn SF -HGNC:10772 Merged/Split SFD HGNC:11822|TIMP3|Approved -HGNC:10793 Merged/Split SFT HGNC:12474|UBE2D1|Approved -HGNC:10794 Merged/Split SFTP1 HGNC:10798|SFTPA1|Approved -HGNC:10795 Merged/Split SFTP2 HGNC:10802|SFTPC|Approved -HGNC:10796 Merged/Split SFTP3 HGNC:10801|SFTPB|Approved -HGNC:10797 Merged/Split SFTP4 HGNC:10803|SFTPD|Approved -HGNC:10804 Merged/Split SFTPP1 HGNC:10800|SFTPA3P|Approved -HGNC:10811 Merged/Split SGK2 HGNC:10812|SGK3|Approved -HGNC:10813 Merged/Split SGLT1 HGNC:11036|SLC5A1|Approved -HGNC:10814 Merged/Split SGLT2 HGNC:11037|SLC5A2|Approved -HGNC:10815 Merged/Split SGM1 HGNC:4221|GDF6|Approved -HGNC:10828 Merged/Split SH3D1A HGNC:6183|ITSN1|Approved -HGNC:10829 Merged/Split SH3D1B HGNC:6184|ITSN2|Approved -HGNC:10843 Merged/Split SHFD1 HGNC:10845|SEM1|Approved -HGNC:10844 Merged/Split SHFD2 HGNC:10846|SHFM2|Entry Withdrawn -HGNC:10846 Entry Withdrawn SHFM2 -HGNC:10849 Merged/Split SHMT HGNC:10852|SHMT2|Approved -HGNC:10855 Merged/Split SHS HGNC:9330|PQBP1|Approved -HGNC:10859 Merged/Split SIASD HGNC:10933|SLC17A5|Approved -HGNC:10865 Entry Withdrawn SIAT5 -HGNC:10868 Merged/Split SIAT8 HGNC:10869|ST8SIA1|Approved -HGNC:10873 Merged/Split SIATL1 HGNC:10867|ST6GALNAC2|Approved -HGNC:10881 Merged/Split SIM HGNC:10883|SIM2|Approved -HGNC:10893 Merged/Split SJS1 HGNC:5273|HSPG2|Approved -HGNC:10948 Merged/Split SLC20A3 HGNC:10979|SLC25A1|Approved -HGNC:10949 Merged/Split SLC20A4 HGNC:10981|SLC25A11|Approved -HGNC:10950 Entry Withdrawn SLC21A1 -HGNC:10951 Entry Withdrawn SLC21A10 -HGNC:10954 Entry Withdrawn SLC21A13 -HGNC:10957 Entry Withdrawn SLC21A4 -HGNC:10958 Entry Withdrawn SLC21A5 -HGNC:10960 Entry Withdrawn SLC21A7 -HGNC:11031 Merged/Split SLC4A5 HGNC:11030|SLC4A4|Approved -HGNC:11032 Merged/Split SLC4A6 HGNC:11033|SLC4A7|Approved -HGNC:11080 Merged/Split SLEB1 HGNC:11851|TLR5|Approved -HGNC:11081 Merged/Split SLEB2 HGNC:8760|PDCD1|Approved -HGNC:11082 Merged/Split SLIL1 HGNC:11085|SLIT1|Approved -HGNC:11083 Merged/Split SLIL2 HGNC:11087|SLIT3|Approved -HGNC:11084 Merged/Split SLIL3 HGNC:11086|SLIT2|Approved -HGNC:11090 Merged/Split SLO HGNC:6284|KCNMA1|Approved -HGNC:11091 Merged/Split SLOS HGNC:2860|DHCR7|Approved -HGNC:11093 Merged/Split SLS HGNC:403|ALDH3A2|Approved -HGNC:11095 Entry Withdrawn SMA# -HGNC:11096 Merged/Split SMA@ HGNC:11117|SMN1|Approved -HGNC:11113 Merged/Split SMCR HGNC:9834|RAI1|Approved -HGNC:11116 Merged/Split SML1 HGNC:11756|TFF2|Approved -HGNC:11130 Merged/Split SNAP HGNC:11132|SNAP25|Approved -HGNC:11143 Merged/Split SNF2L1 HGNC:11097|SMARCA1|Approved -HGNC:11144 Merged/Split SNF2L2 HGNC:11098|SMARCA2|Approved -HGNC:11145 Merged/Split SNF2L3 HGNC:5281|FOXN2|Approved -HGNC:11146 Merged/Split SNF2L4 HGNC:11100|SMARCA4|Approved -HGNC:11147 Merged/Split SNF5L1 HGNC:11103|SMARCB1|Approved -HGNC:11154 Merged/Split SNRPB1 HGNC:11153|SNRPB|Approved -HGNC:11156 Entry Withdrawn SNRPBL1 -HGNC:11165 Merged/Split SNRPNL1 HGNC:11166|SNRPNP1|Entry Withdrawn -HGNC:11166 Entry Withdrawn SNRPNP1 -HGNC:11170 Merged/Split SNTL HGNC:11169|SNTB2|Approved -HGNC:11176 Merged/Split SOAT HGNC:11177|SOAT1|Approved -HGNC:11211 Merged/Split SPACR HGNC:6055|IMPG1|Approved -HGNC:11213 Merged/Split SPAG2 HGNC:12457|UAP1|Approved -HGNC:11221 Merged/Split SPAT HGNC:341|AGXT|Approved -HGNC:11222 Merged/Split SPCH1 HGNC:13875|FOXP2|Approved -HGNC:11223 Merged/Split SPD HGNC:5136|HOXD13|Approved -HGNC:11224 Merged/Split SPG1 HGNC:6470|L1CAM|Approved -HGNC:11225 Merged/Split SPG10 HGNC:6323|KIF5A|Approved -HGNC:11227 Merged/Split SPG12 HGNC:10468|RTN2|Approved -HGNC:11228 Merged/Split SPG13 HGNC:5261|HSPD1|Approved -HGNC:11229 Merged/Split SPG15 HGNC:20761|ZFYVE26|Approved -HGNC:11230 Merged/Split SPG2 HGNC:9086|PLP1|Approved -HGNC:11232 Entry Withdrawn SPG3B -HGNC:11234 Merged/Split SPG5A HGNC:2652|CYP7B1|Approved -HGNC:11235 Entry Withdrawn SPG5B -HGNC:11236 Merged/Split SPG6 HGNC:17043|NIPA1|Approved -HGNC:11238 Merged/Split SPG8 HGNC:28984|WASHC5|Approved -HGNC:11239 Merged/Split SPG9 HGNC:9722|ALDH18A1|Approved -HGNC:11258 Merged/Split SPRR1 HGNC:11260|SPRR1B|Approved -HGNC:11282 Merged/Split SRBC HGNC:1639|CD2|Approved -HGNC:11287 Merged/Split SRD5B1 HGNC:388|AKR1D1|Approved -HGNC:11294 Merged/Split SRK HGNC:12858|ZAP70|Approved -HGNC:11297 Entry Withdrawn SRML2 -HGNC:11308 Merged/Split SRPSMCR HGNC:30427|SRP68P1|Approved -HGNC:11310 Merged/Split SRS HGNC:11123|SMS|Approved -HGNC:11314 Entry Withdrawn SSAV1 -HGNC:11315 Entry Withdrawn SSAV1L -HGNC:11318 Merged/Split SSFA1 HGNC:7819|SNU13|Approved -HGNC:11341 Entry Withdrawn ST11 -HGNC:11342 Merged/Split ST12 HGNC:2235|KLF6|Approved -HGNC:11347 Entry Withdrawn ST2 -HGNC:11348 Entry Withdrawn ST3 -HGNC:11349 Merged/Split ST4 HGNC:356|CRYBG1|Approved -HGNC:11352 Entry Withdrawn ST8 -HGNC:11361 Merged/Split STAT HGNC:11177|SOAT1|Approved -HGNC:11372 Merged/Split STC HGNC:11373|STC1|Approved -HGNC:11376 Merged/Split STD HGNC:11458|SULT2A1|Approved -HGNC:11379 Merged/Split STFA HGNC:2481|CSTA|Approved -HGNC:11380 Merged/Split STFB HGNC:2482|CSTB|Approved -HGNC:11381 Merged/Split STGD1 HGNC:34|ABCA4|Approved -HGNC:11382 Merged/Split STGD2 HGNC:14415|ELOVL4|Approved -HGNC:11383 Merged/Split STGD3 HGNC:14415|ELOVL4|Approved -HGNC:11384 Merged/Split STGD4 HGNC:9454|PROM1|Approved -HGNC:11385 Merged/Split STHE HGNC:4326|GLRA1|Approved -HGNC:11392 Merged/Split STK14A HGNC:10436|RPS6KB1|Approved -HGNC:11409 Merged/Split STK6 HGNC:11393|AURKA|Approved -HGNC:11410 Merged/Split STK6P HGNC:18611|AURKAP1|Approved -HGNC:11412 Merged/Split STM HGNC:11455|SULT1A3|Approved -HGNC:11413 Merged/Split STMY1 HGNC:7173|MMP3|Approved -HGNC:11414 Merged/Split STMY2 HGNC:7156|MMP10|Approved -HGNC:11415 Merged/Split STMY3 HGNC:7157|MMP11|Approved -HGNC:11416 Merged/Split STN HGNC:3192|EEF1A2|Approved -HGNC:11417 Merged/Split STNL HGNC:3192|EEF1A2|Approved -HGNC:11418 Merged/Split STO HGNC:14234|NSD1|Approved -HGNC:11419 Merged/Split STOT HGNC:12304|TRIP10|Approved -HGNC:11420 Merged/Split STP1 HGNC:11453|SULT1A1|Approved -HGNC:11421 Merged/Split STP2 HGNC:11454|SULT1A2|Approved -HGNC:11423 Merged/Split STRL22 HGNC:1607|CCR6|Approved -HGNC:11434 Merged/Split STX1B1 HGNC:18539|STX1B|Approved -HGNC:11435 Merged/Split STX2A HGNC:3403|STX2|Approved -HGNC:11436 Merged/Split STX2B HGNC:3403|STX2|Approved -HGNC:11437 Merged/Split STX2C HGNC:3403|STX2|Approved -HGNC:11452 Entry Withdrawn SULT -HGNC:11461 Merged/Split SUP45L1 HGNC:3477|ETF1|Approved -HGNC:11462 Merged/Split SUP45L2 HGNC:3478|ETF1P1|Approved -HGNC:11463 Merged/Split SUP45L3 HGNC:3479|ETF1P2|Approved -HGNC:11464 Merged/Split SUP45L4 HGNC:3480|ETF1P3|Approved -HGNC:11472 Merged/Split SUR HGNC:59|ABCC8|Approved -HGNC:11481 Merged/Split SVP65 HGNC:11509|SYT1|Approved -HGNC:11484 Merged/Split SYB1 HGNC:12642|VAMP1|Approved -HGNC:11485 Merged/Split SYB2 HGNC:12643|VAMP2|Approved -HGNC:11488 Entry Withdrawn SYCP1L2 -HGNC:11489 Entry Withdrawn SYCP1L3 -HGNC:11492 Merged/Split SYM1 HGNC:7866|NOG|Approved -HGNC:11493 Entry Withdrawn SYM2 -HGNC:11505 Merged/Split SYNS1 HGNC:7866|NOG|Approved -HGNC:11508 Merged/Split SYR HGNC:12842|YES1P1|Approved -HGNC:11516 Merged/Split T3D HGNC:1673|CD3D|Approved -HGNC:11518 Merged/Split TAC1R HGNC:11526|TACR1|Approved -HGNC:11519 Merged/Split TAC2 HGNC:11517|TAC1|Approved -HGNC:11520 Merged/Split TAC2R HGNC:11527|TACR2|Approved -HGNC:11525 Merged/Split TACE HGNC:195|ADAM17|Approved -HGNC:11549 Entry Withdrawn GTF3BAP1 -HGNC:11550 Entry Withdrawn GTF3BAP2 -HGNC:11552 Entry Withdrawn GTF3BAP3 -HGNC:11555 Merged/Split TAK1 HGNC:6859|MAP3K7|Approved -HGNC:11558 Merged/Split TALDO HGNC:11560|TALDO1P1|Approved -HGNC:11561 Merged/Split TAN1 HGNC:7881|NOTCH1|Approved -HGNC:11563 Merged/Split ABCB2 HGNC:43|TAP1|Approved -HGNC:11564 Merged/Split ABCB3 HGNC:44|TAP2|Approved -HGNC:11565 Merged/Split TAPA1 HGNC:1701|CD81|Approved -HGNC:11567 Entry Withdrawn TAPVR1 -HGNC:11574 Merged/Split TAX HGNC:2172|CNTN2|Approved -HGNC:11576 Merged/Split TAX1BP2 HGNC:25507|VAC14|Approved -HGNC:11591 Merged/Split TBS HGNC:10524|SALL1|Approved -HGNC:11606 Merged/Split TBX7 HGNC:11593|TBX10|Approved -HGNC:11611 Merged/Split TCD HGNC:1940|CHM|Approved -HGNC:11618 Merged/Split TCEB1P1 HGNC:33696|SKP1P1|Approved -HGNC:11622 Merged/Split TCF11 HGNC:7781|NFE2L1|Approved -HGNC:11624 Merged/Split TCF13 HGNC:11714|TEAD1|Approved -HGNC:11625 Merged/Split TCF13L1 HGNC:11717|TEAD4|Approved -HGNC:11626 Merged/Split TCF14 HGNC:5024|HNF4A|Approved -HGNC:11635 Merged/Split TCF6 HGNC:11741|TFAM|Approved -HGNC:11637 Merged/Split TCF6L2 HGNC:11741|TFAM|Approved -HGNC:11643 Merged/Split TCF9 HGNC:1317|GCFC2|Approved -HGNC:11650 Entry Withdrawn TCL4 -HGNC:11651 Merged/Split TCL5 HGNC:11556|TAL1|Approved -HGNC:11661 Merged/Split TCRA HGNC:12027|TRA|Approved -HGNC:11662 Merged/Split TCRAV5S1 HGNC:12144|TRAV6|Approved -HGNC:11663 Merged/Split TCRB HGNC:12155|TRB|Approved -HGNC:11664 Merged/Split TCRBV10O HGNC:12199|TRBV21OR9-2|Approved -HGNC:11665 Merged/Split TCRBV11O HGNC:12206|TRBV25OR9-2|Approved -HGNC:11666 Merged/Split TCRBV15O HGNC:12204|TRBV24OR9-2|Approved -HGNC:11667 Merged/Split TCRBV2O HGNC:12197|TRBV20OR9-2|Approved -HGNC:11668 Merged/Split TCRBV4O HGNC:12211|TRBV29OR9-2|Approved -HGNC:11669 Merged/Split TCRBVO@ HGNC:12249|TRBVOR9@|Entry Withdrawn -HGNC:11670 Merged/Split TCRD HGNC:12252|TRD|Approved -HGNC:11671 Merged/Split TCRG HGNC:12271|TRG|Approved -HGNC:11672 Merged/Split TCRGC1 HGNC:12275|TRGC1|Approved -HGNC:11673 Merged/Split TCRGC2 HGNC:12276|TRGC2|Approved -HGNC:11674 Merged/Split TCRGJ1 HGNC:12277|TRGJ1|Approved -HGNC:11675 Merged/Split TCRGJ2 HGNC:12278|TRGJ2|Approved -HGNC:11676 Merged/Split TCRGJP HGNC:12279|TRGJP|Approved -HGNC:11677 Merged/Split TCRGJP1 HGNC:12280|TRGJP1|Approved -HGNC:11678 Merged/Split TCRGJP2 HGNC:12281|TRGJP2|Approved -HGNC:11679 Merged/Split TCRGV1 HGNC:12284|TRGV1|Approved -HGNC:11680 Merged/Split TCRGV10 HGNC:12285|TRGV10|Approved -HGNC:11681 Merged/Split TCRGV11 HGNC:12286|TRGV11|Approved -HGNC:11682 Merged/Split TCRGV2 HGNC:12287|TRGV2|Approved -HGNC:11683 Merged/Split TCRGV3 HGNC:12288|TRGV3|Approved -HGNC:11684 Merged/Split TCRGV4 HGNC:12289|TRGV4|Approved -HGNC:11685 Merged/Split TCRGV5 HGNC:12290|TRGV5|Approved -HGNC:11686 Merged/Split TCRGV5P HGNC:12291|TRGV5P|Approved -HGNC:11687 Merged/Split TCRGV6 HGNC:12292|TRGV6|Approved -HGNC:11688 Merged/Split TCRGV7 HGNC:12293|TRGV7|Approved -HGNC:11689 Merged/Split TCRGV8 HGNC:12294|TRGV8|Approved -HGNC:11690 Merged/Split TCRGV9 HGNC:12295|TRGV9|Approved -HGNC:11691 Merged/Split TCRGVB HGNC:12297|TRGVB|Approved -HGNC:11696 Merged/Split TCTE5 HGNC:9285|PPP1R11|Approved -HGNC:11698 Merged/Split TDD HGNC:385|AKR1C2|Approved -HGNC:11709 Entry Withdrawn TDO2L1 -HGNC:11710 Merged/Split TDPX1 HGNC:9353|PRDX2|Approved -HGNC:11718 Merged/Split TEAD5 HGNC:11716|TEAD3|Approved -HGNC:11739 Merged/Split TEX4 HGNC:17317|TIMM22|Approved -HGNC:11746 Merged/Split TFCOUP1 HGNC:7975|NR2F1|Approved -HGNC:11747 Merged/Split TFCOUP2 HGNC:7976|NR2F2|Approved -HGNC:11770 Merged/Split TGFB4 HGNC:3122|LEFTY2|Approved -HGNC:11775 Entry Withdrawn TGFBRE -HGNC:11783 Entry Withdrawn THAS -HGNC:11789 Merged/Split THC HGNC:12731|WAS|Approved -HGNC:11790 Merged/Split THC2 HGNC:29186|ANKRD26|Approved -HGNC:11792 Entry Withdrawn THM -HGNC:11794 Entry Withdrawn THOP2 -HGNC:11797 Merged/Split THRA2 HGNC:11796|THRA|Approved -HGNC:11798 Merged/Split THRAL HGNC:7962|NR1D1|Approved -HGNC:11803 Merged/Split TIAF1 HGNC:31104|MYO18A|Approved -HGNC:11807 Merged/Split TIC1 HGNC:11251|SPOCK1|Approved -HGNC:11815 Entry Withdrawn TIMM13A -HGNC:11826 Merged/Split TITF2 HGNC:3806|FOXE1|Approved -HGNC:11832 Merged/Split TKC HGNC:11833|TKCR|Entry Withdrawn -HGNC:11833 Entry Withdrawn TKCR -HGNC:11836 Merged/Split TLCN HGNC:5348|ICAM5|Approved -HGNC:11852 Merged/Split TLX HGNC:7973|NR2E1|Approved -HGNC:11880 Merged/Split TMSB4 HGNC:11881|TMSB4X|Approved -HGNC:11890 Merged/Split TMVCF HGNC:2047|CLDN5|Approved -HGNC:11893 Merged/Split TNFA HGNC:11892|TNF|Approved -HGNC:11897 Merged/Split TNFAIP5 HGNC:9692|PTX3|Approved -HGNC:11899 Entry Withdrawn TNFAIP7 -HGNC:11900 Merged/Split TNFB HGNC:6709|LTA|Approved -HGNC:11901 Merged/Split TNFC HGNC:6711|LTB|Approved -HGNC:11902 Merged/Split TNFR1 HGNC:11916|TNFRSF1A|Approved -HGNC:11903 Merged/Split TNFR2 HGNC:11917|TNFRSF1B|Approved -HGNC:11911 Entry Withdrawn TNFRSF12L -HGNC:11933 Merged/Split TNFSF3L HGNC:8904|PGLYRP1|Approved -HGNC:11942 Merged/Split TNM HGNC:8117|TENM1|Approved -HGNC:11954 Entry Withdrawn TNR1 -HGNC:11956 Merged/Split TNRC10 HGNC:13875|FOXP2|Approved -HGNC:11959 Merged/Split TNRC13 HGNC:10555|ATXN2|Approved -HGNC:11964 Merged/Split TNRC21 HGNC:7133|KMT2D|Approved -HGNC:11965 Merged/Split TNRC22 HGNC:14203|JPH3|Approved -HGNC:11966 Merged/Split TNRC3 HGNC:16272|MAML3|Approved -HGNC:11970 Merged/Split TNRC7 HGNC:14248|MED15|Approved -HGNC:11971 Merged/Split TNRC8 HGNC:1497|CASK|Approved -HGNC:11974 Merged/Split TNX HGNC:11975|TNXA|Approved -HGNC:11977 Merged/Split TNXB1 HGNC:11976|TNXB|Approved -HGNC:11978 Merged/Split TNXB2 HGNC:11976|TNXB|Approved -HGNC:11981 Merged/Split TOC HGNC:20788|RHBDF2|Approved -HGNC:11991 Merged/Split TOP3 HGNC:11992|TOP3A|Approved -HGNC:12001 Merged/Split TP53CP HGNC:15979|TP63|Approved -HGNC:12002 Merged/Split TP53L HGNC:15979|TP63|Approved -HGNC:12018 Merged/Split TPS1 HGNC:12019|TPSAB1|Approved -HGNC:12025 Merged/Split TR2 HGNC:7971|NR2C1|Approved -HGNC:12026 Merged/Split TR4 HGNC:7972|NR2C2|Approved -HGNC:12160 Merged/Split TRBF1 HGNC:11728|TERF1|Approved -HGNC:12161 Merged/Split TRBF2 HGNC:11729|TERF2|Approved -HGNC:12249 Entry Withdrawn TRBVOR9@ -HGNC:12267 Entry Withdrawn TRNAE2 -HGNC:12268 Merged/Split TRESMCR HGNC:12629|USP6|Approved -HGNC:12272 Entry Withdrawn TRNAG1 -HGNC:12283 Entry Withdrawn TRGP1 -HGNC:12301 Merged/Split TRIC5 HGNC:1616|CCT3|Approved -HGNC:12302 Entry Withdrawn TRICY1 -HGNC:12308 Merged/Split TRIP2 HGNC:9234|MED1|Approved -HGNC:12317 Entry Withdrawn TRNAL47P -HGNC:12319 Merged/Split TRM2 HGNC:12318|TRX-CAT1-2|Approved -HGNC:12320 Merged/Split TRMA HGNC:10938|SLC19A2|Approved -HGNC:12321 Entry Withdrawn TRMEP1 -HGNC:12323 Merged/Split TRNAMI2 HGNC:12318|TRX-CAT1-2|Approved -HGNC:12325 Entry Withdrawn TRNL -HGNC:12328 Merged/Split TROB1 HGNC:11979|TOB1|Approved -HGNC:12329 Merged/Split TROB2 HGNC:11980|TOB2|Approved -HGNC:12356 Entry Withdrawn TRNAVP1 -HGNC:12357 Entry Withdrawn TRNAVP2 -HGNC:12358 Entry Withdrawn TRNAVP3 -HGNC:12359 Entry Withdrawn TRNAVP4 -HGNC:12360 Entry Withdrawn TRW-CCA7-1 -HGNC:12361 Merged/Split TS HGNC:12441|TYMS|Approved -HGNC:12364 Entry Withdrawn TSC3 -HGNC:12365 Merged/Split TSC4 HGNC:12363|TSC2|Approved -HGNC:12366 Merged/Split TSE1 HGNC:9388|PRKAR1A|Approved -HGNC:12368 Merged/Split TSG10 HGNC:15971|TSG101|Approved -HGNC:12374 Entry Withdrawn TSHRL1 -HGNC:12375 Entry Withdrawn TSHRL2 -HGNC:12376 Entry Withdrawn TSHRL3 -HGNC:12378 Merged/Split TSLC1 HGNC:5951|CADM1|Approved -HGNC:12387 Merged/Split TSSC6 HGNC:13410|TSPAN32|Approved -HGNC:12389 Merged/Split TST1 HGNC:18782|CCDC6|Approved -HGNC:12396 Merged/Split TTD HGNC:21157|GTF2H5|Approved -HGNC:12400 Entry Withdrawn TTIM1 -HGNC:12402 Merged/Split C22orf7 HGNC:1312|TTLL1|Approved -HGNC:12409 Entry Withdrawn TUBAL1 -HGNC:12416 Merged/Split TUBG HGNC:12417|TUBG1|Approved -HGNC:12426 Merged/Split TUPLE1 HGNC:4916|HIRA|Approved -HGNC:12427 Merged/Split TUTR1 HGNC:9690|PTTG1|Approved -HGNC:12430 Merged/Split TXDI1 HGNC:2883|DIO1|Approved -HGNC:12431 Merged/Split TXDI3 HGNC:2885|DIO3|Approved -HGNC:12432 Merged/Split TXGP1 HGNC:11934|TNFSF4|Approved -HGNC:12433 Merged/Split TXGP1L HGNC:11918|TNFRSF4|Approved -HGNC:12438 Merged/Split TXREB HGNC:786|ATF4|Approved -HGNC:12439 Merged/Split TXREB1 HGNC:10362|RPL6|Approved -HGNC:12444 Merged/Split TYRO1 HGNC:3388|EPHA4|Approved -HGNC:12445 Merged/Split TYRO10 HGNC:2731|DDR2|Approved -HGNC:12448 Merged/Split TYRO4 HGNC:3387|EPHA3|Approved -HGNC:12451 Merged/Split TYRP2 HGNC:2709|DCT|Approved -HGNC:12452 Entry Withdrawn TYS -HGNC:12454 Merged/Split U2AF1P HGNC:12456|ZRSR2P1|Approved -HGNC:12455 Merged/Split U2AFBP HGNC:12453|U2AF1|Approved -HGNC:12481 Merged/Split UBE2G HGNC:12482|UBE2G1|Approved -HGNC:12493 Merged/Split UBE2V HGNC:12494|UBE2V1|Approved -HGNC:12501 Merged/Split UBH1 HGNC:12610|USP12P1|Approved -HGNC:12503 Merged/Split UBL2 HGNC:33148|SUMO1P1|Approved -HGNC:12512 Entry Withdrawn UCHH2 -HGNC:12514 Entry Withdrawn UCHL2 -HGNC:12521 Merged/Split UFS HGNC:18374|HPSE2|Approved -HGNC:12522 Merged/Split UGALT HGNC:11022|SLC35A2|Approved -HGNC:12526 Merged/Split UGP1 HGNC:12527|UGP2|Approved -HGNC:12528 Merged/Split UGT1 HGNC:12530|UGT1A1|Approved -HGNC:12543 Entry Withdrawn UGT2B@ -HGNC:12561 Merged/Split UMPH2 HGNC:17144|NT5C|Approved -HGNC:12564 Merged/Split UMS HGNC:11602|TBX3|Approved -HGNC:12571 Merged/Split UND HGNC:2191|COL14A1|Approved -HGNC:12573 Merged/Split UNP HGNC:12627|USP4|Approved -HGNC:12574 Merged/Split UNR HGNC:7965|NR1H2|Approved -HGNC:12581 Merged/Split UQBP HGNC:12582|UQCRB|Approved -HGNC:12589 Entry Withdrawn UQCRFSL2 -HGNC:12595 Entry Withdrawn USH1A -HGNC:12596 Merged/Split USH1B HGNC:7606|MYO7A|Approved -HGNC:12598 Merged/Split USH1D HGNC:13733|CDH23|Approved -HGNC:12599 Entry Withdrawn USH1E -HGNC:12600 Merged/Split USH1F HGNC:14674|PCDH15|Approved -HGNC:12602 Entry Withdrawn USH2B -HGNC:12603 Merged/Split USH2C HGNC:17416|ADGRV1|Approved -HGNC:12604 Merged/Split USH3 HGNC:12605|CLRN1|Approved -HGNC:12606 Merged/Split USH3B HGNC:4816|HARS1|Approved -HGNC:12622 Merged/Split USP23 HGNC:12620|USP21|Approved -HGNC:12639 Merged/Split UVO HGNC:1748|CDH1|Approved -HGNC:12653 Merged/Split VAT1 HGNC:10934|SLC18A1|Approved -HGNC:12664 Merged/Split VCF HGNC:11592|TBX1|Approved -HGNC:12677 Merged/Split VDD1 HGNC:2606|CYP27B1|Approved -HGNC:12678 Entry Withdrawn VDI -HGNC:12685 Merged/Split VGL HGNC:4857|HDLBP|Approved -HGNC:12686 Merged/Split VGR HGNC:1073|BMP6|Approved -HGNC:12688 Merged/Split VHLP HGNC:30666|VHLL|Approved -HGNC:12689 Merged/Split VHR HGNC:3069|DUSP3|Approved -HGNC:12699 Merged/Split VMAT1 HGNC:10934|SLC18A1|Approved -HGNC:12700 Merged/Split VMAT2 HGNC:10935|SLC18A2|Approved -HGNC:12701 Merged/Split VMCM HGNC:11724|TEK|Approved -HGNC:12702 Entry Withdrawn VMD1 -HGNC:12704 Merged/Split VMGLOM HGNC:14373|GLMN|Approved -HGNC:12707 Merged/Split VP HGNC:9280|PPOX|Approved -HGNC:12708 Merged/Split VPP1 HGNC:865|ATP6V0A1|Approved -HGNC:12714 Merged/Split VPS45B HGNC:14579|VPS45|Approved -HGNC:12717 Merged/Split VRF HGNC:12681|VEGFB|Approved -HGNC:12720 Merged/Split VRNI HGNC:1482|CAPN5|Approved -HGNC:12721 Entry Withdrawn AVSD1 -HGNC:12725 Merged/Split VTNR HGNC:6150|ITGAV|Approved -HGNC:12728 Merged/Split VWS HGNC:6121|IRF6|Approved -HGNC:12740 Entry Withdrawn WBS2 -HGNC:12742 Merged/Split WBSCR10 HGNC:961|BAZ1B|Approved -HGNC:12743 Merged/Split WBSCR11 HGNC:4661|GTF2IRD1|Approved -HGNC:12745 Merged/Split WBSCR15 HGNC:12749|LAT2|Approved -HGNC:12747 Merged/Split WBSCR3 HGNC:2586|CLIP2|Approved -HGNC:12748 Merged/Split WBSCR4 HGNC:2586|CLIP2|Approved -HGNC:12750 Merged/Split WBSCR6 HGNC:4659|GTF2I|Approved -HGNC:12751 Merged/Split WBSCR7 HGNC:4660|GTF2IP1|Approved -HGNC:12752 Merged/Split WBSCR9 HGNC:961|BAZ1B|Approved -HGNC:12753 Merged/Split WD HGNC:11027|SLC4A1|Approved -HGNC:12763 Merged/Split WFS2 HGNC:24212|CISD2|Approved -HGNC:12764 Entry Withdrawn WHCR -HGNC:12772 Merged/Split WMS HGNC:3603|FBN1|Approved -HGNC:12773 Merged/Split WND HGNC:870|ATP7B|Approved -HGNC:12777 Merged/Split WNT13 HGNC:12781|WNT2B|Approved -HGNC:12792 Merged/Split WS1 HGNC:8617|PAX3|Approved -HGNC:12793 Merged/Split WS2A HGNC:7105|MITF|Approved -HGNC:12794 Entry Withdrawn WS2B -HGNC:12795 Merged/Split WSN HGNC:16499|RAB39B|Approved -HGNC:12797 Entry Withdrawn WT2 -HGNC:12798 Merged/Split WTS HGNC:13315|HDAC8|Approved -HGNC:12800 Merged/Split WWS HGNC:24931|ZC4H2|Approved -HGNC:12803 Entry Withdrawn XBX1 -HGNC:12808 Entry Withdrawn XGR -HGNC:12813 Entry Withdrawn XM -HGNC:12815 Merged/Split XPAC HGNC:12814|XPA|Approved -HGNC:12817 Merged/Split XPD HGNC:3434|ERCC2|Approved -HGNC:12818 Merged/Split XPF HGNC:3436|ERCC4|Approved -HGNC:12819 Merged/Split XPGC HGNC:3437|ERCC5|Approved -HGNC:12821 Merged/Split XPNPEP HGNC:12822|XPNPEP1|Approved -HGNC:12824 Merged/Split XPNPEPL HGNC:12822|XPNPEP1|Approved -HGNC:12832 Entry Withdrawn XRCC4L -HGNC:12834 Entry Withdrawn XRCC8 -HGNC:12835 Merged/Split XRCC9 HGNC:3588|FANCG|Approved -HGNC:12837 Entry Withdrawn XS -HGNC:12838 Entry Withdrawn XWNPEP -HGNC:12846 Merged/Split YT HGNC:108|ACHE|Approved -HGNC:12847 Merged/Split YWHA1 HGNC:12853|YWHAH|Approved -HGNC:12848 Merged/Split YWHAA HGNC:12849|YWHAB|Approved -HGNC:12850 Merged/Split YWHAD HGNC:12855|YWHAZ|Approved -HGNC:12878 Entry Withdrawn ZNF1 -HGNC:12882 Entry Withdrawn ZNF102 -HGNC:12883 Entry Withdrawn ZNF103 -HGNC:12884 Entry Withdrawn ZNF104 -HGNC:12885 Entry Withdrawn ZNF105 -HGNC:12889 Entry Withdrawn ZNF109 -HGNC:12890 Entry Withdrawn ZNF110 -HGNC:12891 Entry Withdrawn ZNF111 -HGNC:12893 Entry Withdrawn ZNF113 -HGNC:12895 Merged/Split ZNF115 HGNC:23707|ZNF492|Approved -HGNC:12896 Entry Withdrawn ZNF116 -HGNC:12898 Entry Withdrawn ZNF118 -HGNC:12899 Entry Withdrawn ZNF119 -HGNC:12900 Merged/Split ZNF11A HGNC:13096|ZNF33A|Approved -HGNC:12901 Merged/Split ZNF11B HGNC:13097|ZNF33B|Approved -HGNC:12903 Entry Withdrawn ZNF120 -HGNC:12905 Entry Withdrawn ZNF122 -HGNC:12908 Entry Withdrawn ZNF125 -HGNC:12909 Entry Withdrawn ZNF126 -HGNC:12910 Entry Withdrawn MKRN3-AS1 -HGNC:12911 Entry Withdrawn ZNF128 -HGNC:12912 Entry Withdrawn ZNF129 -HGNC:12913 Merged/Split ZNF13 HGNC:13111|ZNF45|Approved -HGNC:12914 Entry Withdrawn ZNF130 -HGNC:12923 Merged/Split ZNF139 HGNC:13101|ZKSCAN1|Approved -HGNC:12934 Entry Withdrawn ZNF149 -HGNC:12935 Merged/Split ZNF150 HGNC:12917|ZNF133|Approved -HGNC:12937 Entry Withdrawn ZNF152 -HGNC:12938 Entry Withdrawn ZNF153 -HGNC:12941 Entry Withdrawn ZNF156 -HGNC:12943 Entry Withdrawn ZNF158 -HGNC:12944 Entry Withdrawn ZNF159 -HGNC:12946 Entry Withdrawn ZNF15L2 -HGNC:12951 Merged/Split ZNF163 HGNC:4237|GFI1|Approved -HGNC:12952 Entry Withdrawn ZNF164 -HGNC:12954 Merged/Split ZNF166 HGNC:12988|ZNF197|Approved -HGNC:12956 Merged/Split ZNF168 HGNC:21018|ZNF445|Approved -HGNC:12959 Entry Withdrawn ZNF170 -HGNC:12960 Entry Withdrawn ZNF171 -HGNC:12961 Entry Withdrawn ZNF172 -HGNC:12965 Merged/Split ZNF176 HGNC:25406|ZNF664|Approved -HGNC:12967 Merged/Split ZNF178 HGNC:16284|TRIM15|Approved -HGNC:12972 Merged/Split ZNF21 HGNC:13001|ZNF182|Approved -HGNC:12973 Entry Withdrawn ZNF182L -HGNC:12977 Merged/Split ZNF186 HGNC:13143|ZNF73P|Approved -HGNC:12979 Entry Withdrawn ZNF188 -HGNC:12982 Merged/Split ZNF191 HGNC:13032|ZNF24|Approved -HGNC:12985 Entry Withdrawn ZNF194 -HGNC:12987 Entry Withdrawn ZNF196 -HGNC:12990 Entry Withdrawn ZNF199 -HGNC:13002 Merged/Split ZNF210 HGNC:12996|ZNF205|Approved -HGNC:13021 Merged/Split ZFP112 HGNC:12892|ZNF112|Approved -HGNC:13025 Merged/Split ZNF231 HGNC:1117|BSN|Approved -HGNC:13033 Entry Withdrawn ZNF240 -HGNC:13034 Entry Withdrawn ZNF241 -HGNC:13035 Entry Withdrawn ZNF242 -HGNC:13037 Entry Withdrawn ZNF244 -HGNC:13038 Entry Withdrawn ZNF245 -HGNC:13039 Entry Withdrawn ZNF246 -HGNC:13040 Entry Withdrawn ZNF247 -HGNC:13042 Entry Withdrawn ZNF249 -HGNC:13048 Merged/Split ZNF255 HGNC:13017|ZNF224|Approved -HGNC:13062 Merged/Split ZNF269 HGNC:13027|ZNF234|Approved -HGNC:13063 Merged/Split ZNF27 HGNC:13017|ZNF224|Approved -HGNC:13064 Merged/Split ZNF270 HGNC:12866|ZNF235|Approved -HGNC:13066 Merged/Split ZNF272 HGNC:21628|ZNF460|Approved -HGNC:13072 Merged/Split ZNF279 HGNC:23022|ZNF280B|Approved -HGNC:13074 Merged/Split ZNF280 HGNC:18597|ZNF280A|Approved -HGNC:13086 Merged/Split ZNF298 HGNC:13999|PRDM15|Approved -HGNC:13087 Merged/Split ZNF299 HGNC:13088|ZNF299P|Approved -HGNC:13092 Entry Withdrawn ZNF301 -HGNC:13100 Entry Withdrawn ZNF35P -HGNC:13105 Merged/Split ZNF39L1 HGNC:13109|ZNF43|Approved -HGNC:13106 Entry Withdrawn ZNF43L -HGNC:13113 Merged/Split ZNF47 HGNC:18818|ZNF397|Approved -HGNC:13115 Merged/Split ZNF49 HGNC:28671|ZNF546|Approved -HGNC:13116 Merged/Split ZNF50 HGNC:4929|ZSCAN22|Approved -HGNC:13117 Merged/Split ZNF51 HGNC:1001|BCL6|Approved -HGNC:13118 Merged/Split ZNF52 HGNC:23717|ZNF501|Approved -HGNC:13119 Entry Withdrawn ZNF53A -HGNC:13120 Entry Withdrawn ZNF53B -HGNC:13121 Entry Withdrawn ZNF54A -HGNC:13122 Entry Withdrawn ZNF54B -HGNC:13123 Merged/Split ZNF55 HGNC:13110|ZNF44|Approved -HGNC:13126 Merged/Split ZNF58 HGNC:13110|ZNF44|Approved -HGNC:13127 Entry Withdrawn ZNF59 -HGNC:13129 Merged/Split ZNF60 HGNC:12936|ZBTB17|Approved -HGNC:13130 Merged/Split ZNF61 HGNC:12919|ZNF135|Approved -HGNC:13131 Merged/Split ZNF62 HGNC:1002|BCL6B|Approved -HGNC:13132 Entry Withdrawn ZNF63 -HGNC:13133 Merged/Split ZNF64 HGNC:12955|ZKSCAN7|Approved -HGNC:13134 Merged/Split ZNF65 HGNC:29008|ZNF629|Approved -HGNC:13137 Entry Withdrawn ZNF68 -HGNC:13151 Merged/Split ZNF78L1 HGNC:12919|ZNF135|Approved -HGNC:13152 Entry Withdrawn ZNF78L2 -HGNC:13157 Merged/Split ZNF82 HGNC:13145|ZNF75D|Approved -HGNC:13161 Entry Withdrawn ZNF86 -HGNC:13162 Entry Withdrawn ZNF87 -HGNC:13163 Entry Withdrawn ZNF88 -HGNC:13167 Merged/Split ZNF91L HGNC:13047|ZNF254|Approved -HGNC:13170 Entry Withdrawn ZNF94 -HGNC:13171 Entry Withdrawn ZNF95 -HGNC:13173 Entry Withdrawn ZNF97 -HGNC:13181 Entry Withdrawn ZNFP1 -HGNC:13183 Merged/Split ZNT1 HGNC:11012|SLC30A1|Approved -HGNC:13184 Merged/Split ZNT2 HGNC:11013|SLC30A2|Approved -HGNC:13185 Merged/Split ZNT3 HGNC:11014|SLC30A3|Approved -HGNC:13186 Merged/Split ZNT4 HGNC:11015|SLC30A4|Approved -HGNC:13190 Merged/Split ZP3B HGNC:13189|ZP3|Approved -HGNC:13191 Merged/Split ZPK HGNC:6851|MAP3K12|Approved -HGNC:13193 Entry Withdrawn ZRK -HGNC:13196 Entry Withdrawn ZWINTAS -HGNC:13197 Merged/Split ZWS1 HGNC:8850|PEX1|Approved -HGNC:13204 Merged/Split ALS2CR1 HGNC:13390|NIF3L1|Approved -HGNC:13217 Entry Withdrawn AUXN -HGNC:13220 Merged/Split BBS6 HGNC:7108|MKKS|Approved -HGNC:13223 Merged/Split BCMS HGNC:13747|DLEU1|Approved -HGNC:13224 Merged/Split BCMSUN HGNC:13748|DLEU2|Approved -HGNC:13226 Merged/Split BHLHB1 HGNC:9398|OLIG2|Approved -HGNC:13230 Entry Withdrawn C10orf1 -HGNC:13246 Entry Withdrawn C9orf1 -HGNC:13252 Merged/Split MCDC1 HGNC:6938|CHST6|Approved -HGNC:13268 Entry Withdrawn DFNA18 -HGNC:13269 Merged/Split DFNA22 HGNC:7605|MYO6|Approved -HGNC:13270 Merged/Split DFNA25 HGNC:20151|SLC17A8|Approved -HGNC:13271 Merged/Split DFNB22 HGNC:16378|OTOA|Approved -HGNC:13274 Merged/Split DURS2 HGNC:1943|CHN1|Approved -HGNC:13282 Merged/Split FBLN4 HGNC:3219|EFEMP2|Approved -HGNC:13289 Entry Withdrawn FOX# -HGNC:13292 Merged/Split GAGED4 HGNC:14618|XAGE3|Approved -HGNC:13295 Entry Withdrawn GJA11 -HGNC:13304 Merged/Split GPR70 HGNC:14448|TAS1R1|Approved -HGNC:13305 Merged/Split GPR71 HGNC:14905|TAS1R2|Approved -HGNC:13314 Entry Withdrawn HAOL -HGNC:13331 Entry Withdrawn ILCF -HGNC:13346 Merged/Split LSFC HGNC:15714|LRPPRC|Approved -HGNC:13349 Entry Withdrawn LYST2 -HGNC:13366 Merged/Split MRT2A HGNC:30185|CRBN|Approved -HGNC:13367 Entry Withdrawn MRX71 -HGNC:13392 Entry Withdrawn NPCDR1 -HGNC:13407 Merged/Split PCPH HGNC:3367|ENTPD5|Approved -HGNC:13409 Merged/Split PFM2 HGNC:450|ALX4|Approved -HGNC:13419 Merged/Split PRSS18 HGNC:6367|KLK6|Approved -HGNC:13423 Merged/Split PWCR1 HGNC:32781|SNORD116@|Entry Withdrawn -HGNC:13434 Entry Withdrawn RP21 -HGNC:13439 Merged/Split SCA15 HGNC:6180|ITPR1|Approved -HGNC:13440 Entry Withdrawn SCA9 -HGNC:13443 Merged/Split SIAT7B HGNC:10867|ST6GALNAC2|Approved -HGNC:13462 Entry Withdrawn STRM -HGNC:13465 Merged/Split TFNR HGNC:13652|BDP1|Approved -HGNC:13466 Entry Withdrawn TGCT1 -HGNC:13472 Merged/Split TNFSF20 HGNC:11929|TNFSF13B|Approved -HGNC:13473 Merged/Split TP73L HGNC:15979|TP63|Approved -HGNC:13496 Merged/Split ZFP93 HGNC:12866|ZNF235|Approved -HGNC:13511 Merged/Split API1 HGNC:590|BIRC2|Approved -HGNC:13512 Merged/Split API2 HGNC:591|BIRC3|Approved -HGNC:13513 Merged/Split API3 HGNC:592|XIAP|Approved -HGNC:13514 Merged/Split API4 HGNC:593|BIRC5|Approved -HGNC:13522 Merged/Split CTAG HGNC:2491|CTAG1B|Approved -HGNC:13547 Merged/Split ATP10C HGNC:13542|ATP10A|Approved -HGNC:13558 Merged/Split DCP1 HGNC:2707|ACE|Approved -HGNC:13560 Merged/Split C21orf64 HGNC:13239|EVA1C|Approved -HGNC:13571 Merged/Split FIC1 HGNC:3706|ATP8B1|Approved -HGNC:13577 Merged/Split C21orf65 HGNC:16707|DSCR8|Approved -HGNC:13591 Merged/Split FBXO20 HGNC:6646|LMO7|Approved -HGNC:13616 Merged/Split FBXO14 HGNC:16510|FBXO31|Approved -HGNC:13624 Merged/Split SPG17 HGNC:15832|BSCL2|Approved -HGNC:13637 Merged/Split MUC3 HGNC:7513|MUC3A|Approved -HGNC:13640 Merged/Split KCNK11 HGNC:13814|KCNK15|Approved -HGNC:13642 Merged/Split PERQ2 HGNC:11960|GIGYF2|Approved -HGNC:13643 Merged/Split PERQ3 HGNC:11960|GIGYF2|Approved -HGNC:13645 Merged/Split MBNT HGNC:6924|LAPTM4A|Approved -HGNC:13647 Merged/Split SARSM HGNC:17697|SARS2|Approved -HGNC:13648 Merged/Split TAF3A HGNC:11549|GTF3BAP1|Entry Withdrawn -HGNC:13649 Merged/Split TAF3B HGNC:11550|GTF3BAP2|Entry Withdrawn -HGNC:13650 Merged/Split TAF3C HGNC:11551|BRF1|Approved -HGNC:13651 Merged/Split TAF3D HGNC:11552|GTF3BAP3|Entry Withdrawn -HGNC:13660 Merged/Split GPR93 HGNC:13307|LPAR5|Approved -HGNC:13661 Merged/Split GPR94 HGNC:4537|P2RY13|Approved -HGNC:13662 Merged/Split GPR95 HGNC:4538|GPR87|Approved -HGNC:13668 Merged/Split DFNA38 HGNC:12762|WFS1|Approved -HGNC:13669 Merged/Split DFNB30 HGNC:7601|MYO3A|Approved -HGNC:13679 Merged/Split ST15 HGNC:11345|RECK|Approved -HGNC:13682 Merged/Split SPG28 HGNC:19714|DDHD1|Approved -HGNC:13683 Merged/Split IGKJRB1 HGNC:5724|RBPJ|Approved -HGNC:13684 Merged/Split IGKJRBP1 HGNC:5725|RBPJP1|Approved -HGNC:13685 Merged/Split IGKJRBP2 HGNC:5726|RBPJP2|Approved -HGNC:13730 Entry Withdrawn SPG14 -HGNC:13737 Merged/Split SNT1 HGNC:11167|SNTA1|Approved -HGNC:13738 Merged/Split SNT2B1 HGNC:11168|SNTB1|Approved -HGNC:13739 Merged/Split SNT2B2 HGNC:11169|SNTB2|Approved -HGNC:13754 Merged/Split RBM8 HGNC:9905|RBM8A|Approved -HGNC:13790 Merged/Split PI HGNC:8941|SERPINA1|Approved -HGNC:13791 Merged/Split PIL HGNC:8985|SERPINA2|Approved -HGNC:13792 Merged/Split AACT HGNC:16|SERPINA3|Approved -HGNC:13793 Merged/Split PI4 HGNC:8948|SERPINA4|Approved -HGNC:13794 Merged/Split PARK4 HGNC:11138|SNCA|Approved -HGNC:13807 Merged/Split GLCLC HGNC:4311|GCLC|Approved -HGNC:13808 Merged/Split GLCLR HGNC:4312|GCLM|Approved -HGNC:13822 Entry Withdrawn HYD2 -HGNC:13832 Merged/Split PARK5 HGNC:12513|UCHL1|Approved -HGNC:13833 Merged/Split DFNA39 HGNC:3054|DSPP|Approved -HGNC:13837 Merged/Split GPR67 HGNC:4504|LGR5|Approved -HGNC:13845 Merged/Split ZNF315P HGNC:12995|ZNF204P|Approved -HGNC:13849 Merged/Split ZNF305 HGNC:13172|ZSCAN12|Approved -HGNC:13856 Merged/Split ZNF309 HGNC:13853|ZKSCAN3|Approved -HGNC:13863 Entry Withdrawn IBD3 -HGNC:13865 Entry Withdrawn MRXS11 -HGNC:13873 Merged/Split PARK6 HGNC:14581|PINK1|Approved -HGNC:13878 Merged/Split PCI HGNC:8723|SERPINA5|Approved -HGNC:13891 Merged/Split CBG HGNC:1540|SERPINA6|Approved -HGNC:13892 Merged/Split TBG HGNC:11583|SERPINA7|Approved -HGNC:13894 Merged/Split SERPINA8 HGNC:333|AGT|Approved -HGNC:13895 Merged/Split ELANH2 HGNC:3311|SERPINB1|Approved -HGNC:13896 Merged/Split PAI2 HGNC:8584|SERPINB2|Approved -HGNC:13897 Merged/Split SCCA1 HGNC:10569|SERPINB3|Approved -HGNC:13898 Merged/Split SCCA2 HGNC:10570|SERPINB4|Approved -HGNC:13899 Merged/Split PI5 HGNC:8949|SERPINB5|Approved -HGNC:13901 Merged/Split PI6 HGNC:8950|SERPINB6|Approved -HGNC:13903 Merged/Split PI8 HGNC:8952|SERPINB8|Approved -HGNC:13904 Merged/Split PI9 HGNC:8955|SERPINB9|Approved -HGNC:13905 Merged/Split PI10 HGNC:8942|SERPINB10|Approved -HGNC:13925 Merged/Split C6orf13 HGNC:16289|TRIM31|Approved -HGNC:13926 Merged/Split C6orf14 HGNC:14516|MRPS18B|Approved -HGNC:13928 Merged/Split C6orf16 HGNC:17202|PSORS1C1|Approved -HGNC:13929 Merged/Split C6orf17 HGNC:17199|PSORS1C2|Approved -HGNC:13942 Merged/Split C6orf30 HGNC:14129|EHMT2|Approved -HGNC:13952 Merged/Split GPXP3 HGNC:4558|GPX6|Approved -HGNC:13960 Merged/Split LYPLA2L HGNC:21069|LYPLA2P1|Approved -HGNC:13969 Merged/Split OR2E1 HGNC:15507|OR2E1P|Approved -HGNC:13984 Merged/Split SMAC3L HGNC:18220|GUSBP4|Approved -HGNC:13988 Entry Withdrawn ZNF187P1 -HGNC:13990 Merged/Split ZNF310P HGNC:14097|ZSCAN31|Approved -HGNC:14020 Merged/Split FAM6A HGNC:28648|DIS3L2|Approved -HGNC:14041 Entry Withdrawn MRPL -HGNC:14057 Merged/Split CLIM1 HGNC:2067|PDLIM1|Approved -HGNC:14070 Entry Withdrawn DFNA40 -HGNC:14071 Merged/Split DLB1 HGNC:13747|DLEU1|Approved -HGNC:14072 Merged/Split DLB2 HGNC:13748|DLEU2|Approved -HGNC:14080 Merged/Split NEUROD3 HGNC:7764|NEUROG1|Approved -HGNC:14081 Merged/Split BPES HGNC:1092|FOXL2|Approved -HGNC:14087 Entry Withdrawn PRAMEF3 -HGNC:14091 Merged/Split NOT1 HGNC:7877|CNOT1|Approved -HGNC:14092 Merged/Split NOT2 HGNC:7878|CNOT2|Approved -HGNC:14093 Merged/Split NOT3 HGNC:7879|CNOT3|Approved -HGNC:14094 Merged/Split NOT4 HGNC:7880|CNOT4|Approved -HGNC:14095 Merged/Split ZNF325 HGNC:12902|ZNF12|Approved -HGNC:14100 Entry Withdrawn CNOT5 -HGNC:14102 Merged/Split POP2 HGNC:9207|CNOT8|Approved -HGNC:14116 Merged/Split TPS2 HGNC:12019|TPSAB1|Approved -HGNC:14127 Entry Withdrawn TPSP3 -HGNC:14140 Merged/Split C16orf12 HGNC:30912|WFIKKN1|Approved -HGNC:14143 Merged/Split C16orf15 HGNC:26960|WDR90|Approved -HGNC:14144 Merged/Split C16orf16 HGNC:26960|WDR90|Approved -HGNC:14145 Merged/Split C16orf17 HGNC:26960|WDR90|Approved -HGNC:14146 Merged/Split C16orf18 HGNC:26960|WDR90|Approved -HGNC:14147 Merged/Split C16orf19 HGNC:26960|WDR90|Approved -HGNC:14149 Merged/Split C16orf21 HGNC:20852|WDR24|Approved -HGNC:14155 Merged/Split C16orf27 HGNC:23026|GNPTG|Approved -HGNC:14156 Merged/Split C16orf28 HGNC:14184|UNKL|Approved -HGNC:14157 Merged/Split C16orf29 HGNC:34454|CCDC154|Approved -HGNC:14159 Merged/Split C16orf31 HGNC:30629|SPSB3|Approved -HGNC:14162 Merged/Split C16orf8 HGNC:20561|RHBDF1|Approved -HGNC:14166 Merged/Split TMEM6 HGNC:17205|PGAP6|Approved -HGNC:14172 Merged/Split C16orf39 HGNC:21169|RHOT2|Approved -HGNC:14174 Merged/Split C16orf41 HGNC:18435|CHTF18|Approved -HGNC:14176 Entry Withdrawn C16orf43 -HGNC:14181 Merged/Split RASL8C HGNC:18285|RAB40C|Approved -HGNC:14199 Merged/Split FAM4A1 HGNC:11351|ST7|Approved -HGNC:14200 Merged/Split C18orf3 HGNC:24121|MRO|Approved -HGNC:14204 Merged/Split ECPN HGNC:14007|OPN3|Approved -HGNC:14206 Merged/Split PI8L1 HGNC:8953|SERPINB8P1|Approved -HGNC:14207 Entry Withdrawn PSORS7 -HGNC:14208 Merged/Split ZNF328 HGNC:25879|ZNF606|Approved -HGNC:14218 Merged/Split PI13 HGNC:8944|SERPINB13|Approved -HGNC:14223 Merged/Split AT3 HGNC:775|SERPINC1|Approved -HGNC:14224 Merged/Split HCF2 HGNC:4838|SERPIND1|Approved -HGNC:14225 Merged/Split PAI1 HGNC:8583|SERPINE1|Approved -HGNC:14226 Merged/Split PI7 HGNC:8951|SERPINE2|Approved -HGNC:14227 Merged/Split PEDF HGNC:8824|SERPINF1|Approved -HGNC:14228 Merged/Split PLI HGNC:9075|SERPINF2|Approved -HGNC:14229 Merged/Split C1NH HGNC:1228|SERPING1|Approved -HGNC:14230 Merged/Split CBP1 HGNC:1546|SERPINH1|Approved -HGNC:14231 Merged/Split CBP2 HGNC:1546|SERPINH1|Approved -HGNC:14232 Merged/Split PI12 HGNC:8943|SERPINI1|Approved -HGNC:14233 Merged/Split PI14 HGNC:8945|SERPINI2|Approved -HGNC:14238 Merged/Split C22orf12 HGNC:2847|DGCR8|Approved -HGNC:14242 Entry Withdrawn IBD7 -HGNC:14252 Entry Withdrawn GINGF2 -HGNC:14260 Entry Withdrawn SPG16 -HGNC:14266 Merged/Split CDH25 HGNC:13681|DCHS1|Approved -HGNC:14274 Merged/Split C17orf1B HGNC:1212|FMNL1|Approved -HGNC:14302 Merged/Split CMYA2 HGNC:15580|PDE4DIP|Approved -HGNC:14308 Merged/Split EGFL2 HGNC:3231|CELSR2|Approved -HGNC:14309 Merged/Split EGFL1 HGNC:3230|CELSR3|Approved -HGNC:14322 Merged/Split RPML12 HGNC:10378|MRPL12|Approved -HGNC:14327 Merged/Split SPANX HGNC:11218|SPANXA1|Approved -HGNC:14330 Merged/Split SPANXB2 HGNC:14329|SPANXB1|Approved -HGNC:14363 Merged/Split DRA HGNC:3018|SLC26A3|Approved -HGNC:14401 Entry Withdrawn DYRK1AIP1 -HGNC:14403 Merged/Split DYRK1AIP3 HGNC:16865|PHYHIP|Approved -HGNC:14413 Merged/Split CACT HGNC:1421|SLC25A20|Approved -HGNC:14414 Merged/Split CACTP HGNC:1422|SLC25A20P1|Approved -HGNC:14419 Merged/Split RPML3 HGNC:10379|MRPL3|Approved -HGNC:14420 Merged/Split RPMS12 HGNC:10380|MRPS12|Approved -HGNC:14421 Merged/Split RPL23L HGNC:10322|MRPL23|Approved -HGNC:14424 Merged/Split RCP HGNC:9936|OPN1LW|Approved -HGNC:14425 Merged/Split GCP HGNC:4206|OPN1MW|Approved -HGNC:14426 Merged/Split BCP HGNC:1012|OPN1SW|Approved -HGNC:14427 Merged/Split NRXN4 HGNC:8011|CNTNAP1|Approved -HGNC:14431 Merged/Split SCCD HGNC:30791|UBIAD1|Approved -HGNC:14433 Merged/Split ALS2CR6 HGNC:443|ALS2|Approved -HGNC:14441 Merged/Split ALS2CR14 HGNC:14442|ICA1L|Approved -HGNC:14443 Merged/Split ALS2CR16 HGNC:20681|NBEAL1|Approved -HGNC:14444 Merged/Split ALS2CR17 HGNC:20681|NBEAL1|Approved -HGNC:14445 Merged/Split ALS2CR18 HGNC:14436|RAPH1|Approved -HGNC:14447 Merged/Split PPCD HGNC:12723|VSX1|Approved -HGNC:14459 Entry Withdrawn DYRK1AIP2 -HGNC:14505 Entry Withdrawn MRPS18 -HGNC:14519 Merged/Split OTM HGNC:8514|CLDN11|Approved -HGNC:14528 Merged/Split SPAG10 HGNC:7036|MFGE8|Approved -HGNC:14532 Entry Withdrawn C11orf26 -HGNC:14535 Entry Withdrawn SLEB3 -HGNC:14538 Merged/Split USP3L HGNC:12621|USP22|Approved -HGNC:14541 Entry Withdrawn CMD1K -HGNC:14557 Merged/Split CLECSF11 HGNC:13258|CLEC4C|Approved -HGNC:14564 Merged/Split DRCC1 HGNC:7511|MUC13|Approved -HGNC:14571 Merged/Split OR4F1 HGNC:8298|OR4F1P|Approved -HGNC:14588 Merged/Split ANKL1 HGNC:1350|ASZ1|Approved -HGNC:14590 Merged/Split OR5D3 HGNC:8336|OR5D3P|Approved -HGNC:14591 Merged/Split GPR99 HGNC:4531|OXGR1|Approved -HGNC:14594 Merged/Split ACCPN HGNC:10914|SLC12A6|Approved -HGNC:14595 Entry Withdrawn MROS -HGNC:14606 Merged/Split C9orf8 HGNC:1366|ADAMTS13|Approved -HGNC:14617 Entry Withdrawn PLAC5 -HGNC:14627 Merged/Split CDCA6 HGNC:1552|CBX2|Approved -HGNC:14641 Merged/Split KHRBP1 HGNC:32790|PNO1|Approved -HGNC:14664 Merged/Split MMEL2 HGNC:14668|MMEL1|Approved -HGNC:14684 Merged/Split CMT2D HGNC:4162|GARS1|Approved -HGNC:14710 Merged/Split OR2A10 HGNC:14729|OR2A4|Approved -HGNC:14715 Merged/Split OR2I2 HGNC:8258|OR2I1P|Approved -HGNC:14717 Merged/Split OR7E88P HGNC:14692|OR7E85P|Approved -HGNC:14720 Entry Withdrawn OR9J1 -HGNC:14734 Merged/Split OR6J2 HGNC:14707|OR6J1|Approved -HGNC:14775 Merged/Split OR7E92P HGNC:8395|OR7E23P|Approved -HGNC:14776 Entry Withdrawn OR4D4P -HGNC:14777 Merged/Split OR2AR1P HGNC:8264|OR2K2|Approved -HGNC:14778 Merged/Split OR4C8P HGNC:14696|OR4C2P|Approved -HGNC:14782 Entry Withdrawn OR56A2P -HGNC:14802 Merged/Split OR7E95P HGNC:8415|OR7E41P|Approved -HGNC:14830 Merged/Split OR2AF2P HGNC:14719|OR2AF1P|Approved -HGNC:14924 Merged/Split MT1NP HGNC:7402|MT1JP|Approved -HGNC:14925 Merged/Split MT1Q HGNC:7394|MT1B|Approved -HGNC:14926 Merged/Split SH3D5 HGNC:14565|SORBS1|Approved -HGNC:14936 Merged/Split DYT14 HGNC:4193|GCH1|Approved -HGNC:14961 Merged/Split MT1S HGNC:7393|MT1A|Approved -HGNC:15002 Merged/Split OR2AK1P HGNC:19569|OR2AK2|Approved -HGNC:15006 Merged/Split OR2C4 HGNC:15005|OR2C3|Approved -HGNC:15010 Merged/Split OR2L4P HGNC:8266|OR2L2|Approved -HGNC:15013 Merged/Split OR2L7P HGNC:8265|OR2L1P|Approved -HGNC:15044 Merged/Split OR7E107P HGNC:8400|OR7E28P|Approved -HGNC:15045 Merged/Split OR1F10 HGNC:8194|OR1F1|Approved -HGNC:15046 Entry Withdrawn OR2A16P -HGNC:15051 Merged/Split OR7E127P HGNC:8393|OR7E21P|Approved -HGNC:15054 Merged/Split OR7E131P HGNC:14780|OR7E93P|Approved -HGNC:15055 Merged/Split OR7E132P HGNC:8428|OR7E53P|Approved -HGNC:15056 Merged/Split OR1F13P HGNC:8194|OR1F1|Approved -HGNC:15060 Entry Withdrawn OR8N1P -HGNC:15061 Merged/Split OR1E6 HGNC:8189|OR1E1|Approved -HGNC:15064 Merged/Split OR2V3 HGNC:15341|OR2V2|Approved -HGNC:15065 Merged/Split OR3A8P HGNC:8284|OR3A3|Approved -HGNC:15066 Merged/Split OR10C2 HGNC:8165|OR10C1|Approved -HGNC:15067 Merged/Split OR11A2 HGNC:8176|OR11A1|Approved -HGNC:15068 Merged/Split OR2B9 HGNC:13966|OR2B2|Approved -HGNC:15069 Entry Withdrawn OR2H7 -HGNC:15070 Merged/Split OR2H8 HGNC:8252|OR2H1|Approved -HGNC:15073 Merged/Split OR2W7P HGNC:15072|OR2W6P|Approved -HGNC:15074 Merged/Split OR4F10 HGNC:15089|OR4F7P|Approved -HGNC:15075 Merged/Split OR4F12 HGNC:15372|OR4F6|Approved -HGNC:15081 Entry Withdrawn OR2A11P -HGNC:15086 Merged/Split OR2A17P HGNC:8230|OR2A2|Approved -HGNC:15088 Merged/Split OR2AE2 HGNC:15087|OR2AE1|Approved -HGNC:15092 Entry Withdrawn OR7E118P -HGNC:15099 Merged/Split OR7E80P HGNC:8386|OR7E15P|Approved -HGNC:15109 Merged/Split OR1J5 HGNC:8209|OR1J2|Approved -HGNC:15112 Merged/Split OR1N3 HGNC:8221|OR1N1|Approved -HGNC:15114 Entry Withdrawn OR2AN1P -HGNC:15116 Merged/Split OR5C2P HGNC:8331|OR5C1|Approved -HGNC:15119 Entry Withdrawn OR7E112P -HGNC:15120 Entry Withdrawn OR7E113P -HGNC:15121 Entry Withdrawn OR7E114P -HGNC:15123 Entry Withdrawn OR6D2P -HGNC:15133 Merged/Split OR10D6P HGNC:14770|OR10D4P|Approved -HGNC:15157 Merged/Split OR4A20P HGNC:8289|OR4A1P|Approved -HGNC:15179 Merged/Split OR4P3P HGNC:15180|OR4P4|Approved -HGNC:15186 Merged/Split OR51A11P HGNC:15185|OR51A10P|Approved -HGNC:15192 Merged/Split OR51C3P HGNC:15191|OR51C1P|Approved -HGNC:15227 Entry Withdrawn OR52M3P -HGNC:15242 Merged/Split OR55C1P HGNC:15241|OR55B1P|Approved -HGNC:15243 Merged/Split OR56A6 HGNC:14786|OR56A3|Approved -HGNC:15263 Merged/Split OR5B13 HGNC:8324|OR5B3|Approved -HGNC:15264 Merged/Split OR5B14P HGNC:8322|OR5B1P|Approved -HGNC:15266 Merged/Split OR5B16 HGNC:15432|OR5B12|Approved -HGNC:15268 Merged/Split OR5B18P HGNC:8320|OR5B10P|Approved -HGNC:15274 Merged/Split OR5BG1P HGNC:15327|OR9M1P|Approved -HGNC:15300 Merged/Split OR5W3P HGNC:15299|OR5W2|Approved -HGNC:15323 Merged/Split OR9G5 HGNC:15319|OR9G1|Approved -HGNC:15326 Merged/Split OR9L2P HGNC:14761|OR9L1P|Approved -HGNC:15330 Merged/Split OR10P2P HGNC:15378|OR10P1|Approved -HGNC:15331 Merged/Split OR10P3P HGNC:15378|OR10P1|Approved -HGNC:15334 Entry Withdrawn OR2A18P -HGNC:15336 Merged/Split OR6U1P HGNC:19631|OR6U2P|Approved -HGNC:15357 Merged/Split OR4L2P HGNC:15356|OR4L1|Approved -HGNC:15368 Merged/Split OR11I2P HGNC:14997|OR11I1P|Approved -HGNC:15377 Merged/Split OR8B11P HGNC:8470|OR8B1P|Approved -HGNC:15379 Merged/Split OR2C2P HGNC:8242|OR2C1|Approved -HGNC:15380 Merged/Split OR4F11P HGNC:15381|OR4F17|Approved -HGNC:15382 Merged/Split OR4G5P HGNC:8304|OR4G3P|Approved -HGNC:15383 Merged/Split OR1E9P HGNC:8189|OR1E1|Approved -HGNC:15384 Merged/Split OR1R2P HGNC:8226|OR1R1P|Approved -HGNC:15385 Merged/Split OR1R3P HGNC:8226|OR1R1P|Approved -HGNC:15386 Merged/Split OR4K10P HGNC:14756|OR4K7P|Approved -HGNC:15387 Merged/Split OR4K9P HGNC:14787|OR4K8P|Approved -HGNC:15392 Merged/Split OR2Z2 HGNC:15391|OR2Z1|Approved -HGNC:15393 Merged/Split OR4F18 HGNC:15381|OR4F17|Approved -HGNC:15394 Merged/Split OR4F19 HGNC:15381|OR4F17|Approved -HGNC:15396 Merged/Split OR4F9P HGNC:15395|OR4F8P|Approved -HGNC:15397 Merged/Split OR4G7P HGNC:8303|OR4G2P|Approved -HGNC:15398 Merged/Split OR4G8P HGNC:8302|OR4G1P|Approved -HGNC:15400 Merged/Split OR7E98P HGNC:8389|OR7E18P|Approved -HGNC:15409 Merged/Split OR13E2 HGNC:15107|OR13E1P|Approved -HGNC:15410 Entry Withdrawn OR1E7 -HGNC:15411 Entry Withdrawn OR1E8P -HGNC:15412 Entry Withdrawn OR2A19 -HGNC:15414 Entry Withdrawn OR2A21 -HGNC:15415 Entry Withdrawn OR2A22P -HGNC:15416 Merged/Split OR2C5P HGNC:15005|OR2C3|Approved -HGNC:15417 Merged/Split OR2I3P HGNC:8258|OR2I1P|Approved -HGNC:15418 Merged/Split OR2I4P HGNC:8258|OR2I1P|Approved -HGNC:15419 Entry Withdrawn OR2I5P -HGNC:15420 Entry Withdrawn OR2I6 -HGNC:15421 Entry Withdrawn OR2I7P -HGNC:15422 Entry Withdrawn OR2I8P -HGNC:15423 Entry Withdrawn OR2I9P -HGNC:15425 Entry Withdrawn OR4P2P -HGNC:15427 Merged/Split OR51C2P HGNC:15191|OR51C1P|Approved -HGNC:15428 Entry Withdrawn OR51E3P -HGNC:15429 Entry Withdrawn OR52A2 -HGNC:15430 Merged/Split OR52A3P HGNC:15194|OR51E1|Approved -HGNC:15433 Merged/Split OR5BH2P HGNC:15407|OR5BH1P|Approved -HGNC:15435 Merged/Split OR5D10P HGNC:8335|OR5D2P|Approved -HGNC:15438 Merged/Split OR7E119P HGNC:8409|OR7E36P|Approved -HGNC:15439 Merged/Split OR7E120 HGNC:8408|OR7E35P|Approved -HGNC:15440 Merged/Split OR7E123P HGNC:14733|OR7E90P|Approved -HGNC:15441 Entry Withdrawn OR7E124P -HGNC:15442 Entry Withdrawn OR7E81P -HGNC:15457 Merged/Split BPES3 HGNC:12428|TWIST1|Approved -HGNC:15493 Merged/Split OR2B1 HGNC:8241|OR2B6|Approved -HGNC:15498 Merged/Split LENG3 HGNC:14947|PPP1R12C|Approved -HGNC:15499 Entry Withdrawn LENG6 -HGNC:15539 Merged/Split C8orf5 HGNC:27806|XKR6|Approved -HGNC:15542 Entry Withdrawn C8orf6 -HGNC:15543 Merged/Split C8orf7 HGNC:27806|XKR6|Approved -HGNC:15545 Merged/Split C8orf9 HGNC:16825|MTMR8|Approved -HGNC:15575 Merged/Split DFNA41 HGNC:15459|P2RX2|Approved -HGNC:15596 Entry Withdrawn FGS3 -HGNC:15603 Merged/Split SIGLEC19P HGNC:10876|SIGLEC7|Approved -HGNC:15612 Merged/Split SIGLEC23P HGNC:26856|SIGLECL1|Approved -HGNC:15627 Entry Withdrawn C8orf15 -HGNC:15628 Entry Withdrawn C8orf16 -HGNC:15665 Merged/Split MCPHA HGNC:14409|SLC25A19|Approved -HGNC:15666 Merged/Split C11orf29 HGNC:29005|TRIM66|Approved -HGNC:15670 Merged/Split GPR104 HGNC:4532|HCAR1|Approved -HGNC:15681 Entry Withdrawn C8orf29 -HGNC:15704 Merged/Split CDPD1 HGNC:16438|SLC4A11|Approved -HGNC:15705 Merged/Split C21orf68 HGNC:17807|CHODL|Approved -HGNC:15709 Merged/Split C21orf69 HGNC:15707|LINC01547|Approved -HGNC:15733 Entry Withdrawn PPH2 -HGNC:15735 Merged/Split SCA17 HGNC:11588|TBP|Approved -HGNC:15737 Entry Withdrawn LCS1 -HGNC:15744 Entry Withdrawn SCA18 -HGNC:15778 Entry Withdrawn FAM7A4 -HGNC:15779 Entry Withdrawn FAM7A5 -HGNC:15780 Merged/Split FAM7B1 HGNC:15782|ARHGAP11B|Approved -HGNC:15796 Merged/Split RPL41L2 HGNC:10356|RPL41P1|Approved -HGNC:15798 Merged/Split TMSB4L HGNC:11888|TMSB4XP6|Approved -HGNC:15800 Merged/Split VIAAT HGNC:11018|SLC32A1|Approved -HGNC:15810 Merged/Split ZNF338 HGNC:15940|ZFP64|Approved -HGNC:15820 Merged/Split FECD HGNC:2216|COL8A2|Approved -HGNC:15821 Merged/Split DFNA52 HGNC:9220|POU4F3|Approved -HGNC:15824 Entry Withdrawn MRX77 -HGNC:15834 Merged/Split SYTIP2 HGNC:15851|NECAB3|Approved -HGNC:15843 Merged/Split ZNF340 HGNC:16094|ZBTB46|Approved -HGNC:15863 Merged/Split C20orf17 HGNC:13010|TSHZ2|Approved -HGNC:15871 Merged/Split C20orf25 HGNC:13251|CDH22|Approved -HGNC:15883 Merged/Split C20orf37 HGNC:6176|ITPA|Approved -HGNC:15884 Merged/Split C20orf38 HGNC:16253|SPTLC3|Approved -HGNC:15895 Merged/Split C20orf49 HGNC:15877|EDEM2|Approved -HGNC:15896 Merged/Split C20orf5 HGNC:17117|SLC35C2|Approved -HGNC:15949 Entry Withdrawn C12orf9 -HGNC:15953 Merged/Split UBL6 HGNC:33148|SUMO1P1|Approved -HGNC:15960 Merged/Split CABP3 HGNC:13714|CABP5|Approved -HGNC:15969 Merged/Split CORD9 HGNC:216|ADAM9|Approved -HGNC:15976 Merged/Split CXorf10 HGNC:25657|BCORL1|Approved -HGNC:15978 Merged/Split ZDHHC10 HGNC:18475|ZDHHC9|Approved -HGNC:16026 Entry Withdrawn C21orf72 -HGNC:16032 Merged/Split PDB3 HGNC:11280|SQSTM1|Approved -HGNC:16033 Entry Withdrawn PDB4 -HGNC:16057 Merged/Split VTLO1 HGNC:16304|AIS1|Entry Withdrawn -HGNC:16080 Merged/Split LINC00846 HGNC:54636|CFAP298-TCP10L|Approved -HGNC:16103 Entry Withdrawn C20orf109 -HGNC:16107 Merged/Split C20orf113 HGNC:16106|NOL4L|Approved -HGNC:16117 Merged/Split C20orf124 HGNC:15801|FER1L4|Approved -HGNC:16124 Merged/Split C20orf131 HGNC:16125|MROH8|Approved -HGNC:16138 Merged/Split C20orf145 HGNC:16527|TMC2|Approved -HGNC:16141 Merged/Split C20orf148 HGNC:11298|SRMS|Approved -HGNC:16146 Merged/Split C20orf153 HGNC:15478|ADAM33|Approved -HGNC:16149 Merged/Split C20orf156 HGNC:17329|SLA2|Approved -HGNC:16150 Merged/Split C20orf157 HGNC:34344|ZNF840P|Approved -HGNC:16151 Merged/Split C20orf158 HGNC:2680|DIDO1|Approved -HGNC:16152 Merged/Split C20orf159 HGNC:23062|XKR7|Approved -HGNC:16169 Merged/Split C20orf176 HGNC:16168|RIPOR3|Approved -HGNC:16190 Merged/Split C20orf57 HGNC:16236|DUSP15|Approved -HGNC:16199 Entry Withdrawn C20orf66 -HGNC:16202 Merged/Split LINC00266-1 HGNC:51706|SEPTIN14P20|Approved -HGNC:16215 Merged/Split C20orf84 HGNC:15858|DZANK1|Approved -HGNC:16220 Entry Withdrawn C20orf89 -HGNC:16238 Merged/Split GGTL5 HGNC:4259|GGT7|Approved -HGNC:16241 Merged/Split IL6ST2 HGNC:3368|ENTPD6|Approved -HGNC:16242 Merged/Split LIPN3L HGNC:14451|LPIN3|Approved -HGNC:16295 Merged/Split TSTA1 HGNC:10304|RPL13A|Approved -HGNC:16296 Merged/Split TSTA2 HGNC:9560|PSMD3|Approved -HGNC:16303 Merged/Split LENG7 HGNC:3189|EEF1A1|Approved -HGNC:16304 Entry Withdrawn AIS1 -HGNC:16307 Entry Withdrawn LENG11 -HGNC:16308 Entry Withdrawn LENG10 -HGNC:16322 Entry Withdrawn PPP1R2P7 -HGNC:16333 Entry Withdrawn GINGF3 -HGNC:16340 Entry Withdrawn C21orf79 -HGNC:16351 Entry Withdrawn SPAR -HGNC:16359 Entry Withdrawn DFNB33 -HGNC:16360 Merged/Split DFNB32 HGNC:1718|CDC14A|Approved -HGNC:16368 Merged/Split PARK8 HGNC:18618|LRRK2|Approved -HGNC:16382 Merged/Split RNU40 HGNC:10186|SNORD46|Approved -HGNC:16399 Merged/Split OSBPL1B HGNC:16398|OSBPL1A|Approved -HGNC:16401 Entry Withdrawn MYMY1 -HGNC:16409 Entry Withdrawn PPP1R12CP -HGNC:16413 Merged/Split C21orf81 HGNC:42024|ANKRD20A11P|Approved -HGNC:16415 Merged/Split C21orf83 HGNC:13999|PRDM15|Approved -HGNC:16419 Merged/Split C21orf85 HGNC:16417|MCM3AP-AS1|Approved -HGNC:16436 Merged/Split GGTLA3 HGNC:16437|GGTLC1|Approved -HGNC:16474 Entry Withdrawn SAX1 -HGNC:16477 Merged/Split ADIR HGNC:11997|TOR3A|Approved -HGNC:16498 Entry Withdrawn WBSCR23 -HGNC:16578 Merged/Split RPL13P3 HGNC:16342|RPL13P2|Approved -HGNC:16589 Merged/Split PPIAL2 HGNC:9264|PPIAP10|Approved -HGNC:16591 Entry Withdrawn ST13P -HGNC:16592 Merged/Split RPL24P1 HGNC:37876|RSL24D1P6|Approved -HGNC:16616 Merged/Split SPRL6B HGNC:16615|LCE3D|Approved -HGNC:16619 Merged/Split C21orf95 HGNC:16274|CYYR1|Approved -HGNC:16624 Merged/Split C21orf97 HGNC:8819|PDXK|Approved -HGNC:16625 Merged/Split C21orf98 HGNC:13082|LTN1|Approved -HGNC:16662 Merged/Split ADAMTS21 HGNC:17110|ADAMTS18|Approved -HGNC:16670 Entry Withdrawn GCUD1 -HGNC:16679 Entry Withdrawn HK2P2 -HGNC:16680 Merged/Split AVSD2 HGNC:14630|CRELD1|Approved -HGNC:16706 Entry Withdrawn SPG19 -HGNC:16723 Merged/Split FUSIP2 HGNC:16713|SRSF10|Approved -HGNC:16745 Merged/Split FANCD1 HGNC:1101|BRCA2|Approved -HGNC:16749 Merged/Split ZNF588 HGNC:12887|ZNF107|Approved -HGNC:16755 Entry Withdrawn DYX9 -HGNC:16774 Merged/Split KRTAP4-15 HGNC:18909|KRTAP4-6|Approved -HGNC:16786 Entry Withdrawn C1orf20 -HGNC:16796 Merged/Split RAET1J HGNC:38570|BTF3P10|Approved -HGNC:16819 Merged/Split C22orf19 HGNC:19074|THOC5|Approved -HGNC:16886 Merged/Split ZNF359 HGNC:13023|ZNF23|Approved -HGNC:16899 Entry Withdrawn L1RE3 -HGNC:16957 Entry Withdrawn SPHAR -HGNC:17033 Merged/Split SCA19 HGNC:6239|KCND3|Approved -HGNC:17065 Merged/Split CORTBP1 HGNC:14295|SHANK2|Approved -HGNC:17114 Merged/Split C20orf192 HGNC:15755|PPP4R1L|Approved -HGNC:17115 Merged/Split C20orf193 HGNC:14045|MRPS26|Approved -HGNC:17120 Merged/Split MCPH6 HGNC:17272|CENPJ|Approved -HGNC:17126 Merged/Split C7orf13 HGNC:48971|RNF32-DT|Approved -HGNC:17130 Entry Withdrawn RNU86 -HGNC:17140 Merged/Split C21orf101 HGNC:14051|MRPS6|Approved -HGNC:17141 Merged/Split C21orf102 HGNC:14965|LRRC3|Approved -HGNC:17143 Entry Withdrawn DFNB34 -HGNC:17172 Merged/Split SCA21 HGNC:25186|TMEM240|Approved -HGNC:17201 Merged/Split RNF33 HGNC:21162|TRIM60|Approved -HGNC:17204 Entry Withdrawn SCA20 -HGNC:17215 Entry Withdrawn LINC00527 -HGNC:17221 Merged/Split FBXW1BP HGNC:1145|FBXW11P1|Approved -HGNC:17225 Entry Withdrawn DGCR12 -HGNC:17227 Merged/Split DGCR9 HGNC:16757|DGCR5|Approved -HGNC:17232 Entry Withdrawn TRIM78P -HGNC:17235 Merged/Split C21orf107 HGNC:12760|BRWD1|Approved -HGNC:17237 Merged/Split FGF7L HGNC:17193|FGF7P2|Approved -HGNC:17243 Entry Withdrawn DFNA43 -HGNC:17248 Entry Withdrawn DEFT5P -HGNC:17250 Entry Withdrawn DEFT3P -HGNC:17251 Merged/Split RPL9P9 HGNC:30334|RPL9P8|Approved -HGNC:17254 Entry Withdrawn ERVFC1 -HGNC:17275 Entry Withdrawn PSORS4 -HGNC:17285 Entry Withdrawn C21orf116 -HGNC:17308 Merged/Split RNF35 HGNC:24339|TRIM61|Approved -HGNC:17320 Merged/Split SCA22 HGNC:6239|KCND3|Approved -HGNC:17322 Entry Withdrawn PSORS8 -HGNC:17338 Merged/Split SCZD9 HGNC:10000|RGS4|Approved -HGNC:17339 Entry Withdrawn SCZD10 -HGNC:17355 Merged/Split APOBEC3E HGNC:17354|APOBEC3D|Approved -HGNC:17374 Merged/Split FBXW10P1 HGNC:14379|FBXW10B|Approved -HGNC:17420 Entry Withdrawn SLEH1 -HGNC:17480 Entry Withdrawn DFNB43 -HGNC:17559 Merged/Split LCN5 HGNC:27038|LCN8|Approved -HGNC:17571 Merged/Split MRX79 HGNC:6990|MECP2|Approved -HGNC:17573 Entry Withdrawn C19orf31 -HGNC:17627 Entry Withdrawn ANIB1 -HGNC:17703 Merged/Split C5orf10 HGNC:14305|CMYA5|Approved -HGNC:17803 Merged/Split TBX14 HGNC:11594|TBX15|Approved -HGNC:17831 Entry Withdrawn OTSC3 -HGNC:17832 Merged/Split PARK9 HGNC:30213|ATP13A2|Approved -HGNC:17833 Entry Withdrawn PARK10 -HGNC:17863 Merged/Split DGCR13 HGNC:16817|ESS2|Approved -HGNC:17864 Merged/Split DGCR10 HGNC:16757|DGCR5|Approved -HGNC:17876 Merged/Split ZNF360 HGNC:13093|ZSCAN20|Approved -HGNC:17900 Entry Withdrawn HCG2P1 -HGNC:17913 Entry Withdrawn SMCR9 -HGNC:17915 Entry Withdrawn SMCR3 -HGNC:17917 Entry Withdrawn SMCR4 -HGNC:17919 Entry Withdrawn SMCR6 -HGNC:17924 Entry Withdrawn C5orf9 -HGNC:17942 Merged/Split MRX78 HGNC:29059|IQSEC2|Approved -HGNC:17951 Entry Withdrawn PDB5 -HGNC:17952 Entry Withdrawn PDB6 -HGNC:17953 Entry Withdrawn PSORS5 -HGNC:17963 Entry Withdrawn PARK11 -HGNC:17974 Entry Withdrawn C19orf8 -HGNC:17977 Merged/Split C1orf30 HGNC:6236|KCNC4|Approved -HGNC:17979 Entry Withdrawn C6orf36 -HGNC:17987 Entry Withdrawn C8orf64 -HGNC:17988 Entry Withdrawn C8orf65 -HGNC:18009 Merged/Split SPG18 HGNC:1356|ERLIN2|Approved -HGNC:18074 Merged/Split NCRNA00103 HGNC:7083|CD99P1|Approved -HGNC:18092 Entry Withdrawn DEFB111 -HGNC:18100 Merged/Split DEFB120 HGNC:18099|DEFB119|Approved -HGNC:18109 Entry Withdrawn DEFB132P -HGNC:18112 Merged/Split C15orf13 HGNC:12010|TPM1|Approved -HGNC:18146 Merged/Split TIGM1 HGNC:9016|PKHD1|Approved -HGNC:18148 Merged/Split C6orf61 HGNC:21484|MCM9|Approved -HGNC:18176 Merged/Split SLEV1 HGNC:14374|NLRP1|Approved -HGNC:18223 Merged/Split MRXS10 HGNC:4800|HSD17B10|Approved -HGNC:18227 Merged/Split C17orf33 HGNC:2438|CSF3|Approved -HGNC:18228 Entry Withdrawn DNM1DN1@ -HGNC:18245 Merged/Split C6orf212 HGNC:23046|CLVS2|Approved -HGNC:18252 Entry Withdrawn DFNB58 -HGNC:18300 Merged/Split DFNB60 HGNC:10968|SLC22A4|Approved -HGNC:18342 Merged/Split PADI5 HGNC:18368|PADI4|Approved -HGNC:18343 Entry Withdrawn DYX5 -HGNC:18366 Merged/Split DFNB35 HGNC:3473|ESRRB|Approved -HGNC:18372 Merged/Split XAGE1E HGNC:25400|XAGE1B|Approved -HGNC:18388 Entry Withdrawn SFTPI -HGNC:18389 Merged/Split SFTPJ HGNC:2039|CLDN18|Approved -HGNC:18390 Merged/Split FABP11 HGNC:3557|FABP3|Approved -HGNC:18408 Merged/Split SPANXE HGNC:14332|SPANXD|Approved -HGNC:18409 Merged/Split SPANXF1 HGNC:14329|SPANXB1|Approved -HGNC:18438 Merged/Split MCDR2 HGNC:9454|PROM1|Approved -HGNC:18447 Merged/Split SPANXF2 HGNC:14329|SPANXB1|Approved -HGNC:18457 Merged/Split RFP2OS HGNC:13748|DLEU2|Approved -HGNC:18542 Entry Withdrawn SLEN1 -HGNC:18543 Entry Withdrawn SLEN2 -HGNC:18544 Entry Withdrawn SLEN3 -HGNC:18545 Merged/Split DFNA37 HGNC:2186|COL11A1|Approved -HGNC:18566 Merged/Split NCRNA00185 HGNC:18495|TTTY14|Approved -HGNC:18573 Entry Withdrawn HCHOLA4 -HGNC:18574 Merged/Split MASP1P1 HGNC:6902|MASP2|Approved -HGNC:18575 Merged/Split ZNF381P HGNC:37728|ZNF736P3Y|Approved -HGNC:18577 Merged/Split CYorf15B HGNC:18473|TXLNGY|Approved -HGNC:18616 Entry Withdrawn RAF1P2 -HGNC:18617 Entry Withdrawn BRCA3 -HGNC:18635 Merged/Split RGSL2 HGNC:18636|RGSL1|Approved -HGNC:18645 Merged/Split HCHOLA3 HGNC:20001|PCSK9|Approved -HGNC:18663 Merged/Split DFNA44 HGNC:18111|CCDC50|Approved -HGNC:18686 Merged/Split DFNB36 HGNC:13281|ESPN|Approved -HGNC:18687 Merged/Split DFNB37 HGNC:7605|MYO6|Approved -HGNC:18691 Entry Withdrawn DFNA45 -HGNC:18692 Entry Withdrawn DFNA46 -HGNC:18693 Entry Withdrawn DFNA47 -HGNC:18694 Entry Withdrawn DFNA48 -HGNC:18773 Entry Withdrawn C6orf42 -HGNC:18774 Entry Withdrawn C6orf43 -HGNC:18775 Merged/Split C6orf44 HGNC:21582|MCFD2P1|Approved -HGNC:18776 Merged/Split ZNF388 HGNC:23640|ZNF322|Approved -HGNC:18778 Merged/Split ZNF453 HGNC:21193|ZSCAN23|Approved -HGNC:18780 Merged/Split ZNF392 HGNC:20813|ZSCAN16|Approved -HGNC:18793 Merged/Split SMAC3L2 HGNC:18792|GUSBP2|Approved -HGNC:18819 Merged/Split DFNA50 HGNC:31648|MIR96|Approved -HGNC:18820 Entry Withdrawn DFNA49 -HGNC:18850 Entry Withdrawn CYP3A5P2 -HGNC:18872 Entry Withdrawn MRX80 -HGNC:18878 Merged/Split TAS2R47 HGNC:19112|TAS2R30|Approved -HGNC:18879 Merged/Split TAS2R48 HGNC:19108|TAS2R19|Approved -HGNC:18880 Merged/Split TAS2R49 HGNC:19109|TAS2R20|Approved -HGNC:18881 Merged/Split TAS2R44 HGNC:19113|TAS2R31|Approved -HGNC:18887 Merged/Split PTC HGNC:9584|TAS2R38|Approved -HGNC:18892 Merged/Split KRTAP4-14 HGNC:18911|KRTAP4-11|Approved -HGNC:18895 Merged/Split KRTAP4-13 HGNC:16928|KRTAP4-4|Approved -HGNC:18897 Merged/Split KRTAP4-10 HGNC:18907|KRTAP4-1|Approved -HGNC:18953 Merged/Split KRTAP19P4 HGNC:34001|KRTAP20-3|Approved -HGNC:19029 Merged/Split TRIM57 HGNC:30834|TRIM59|Approved -HGNC:19047 Merged/Split KIAA1618 HGNC:14539|RNF213|Approved -HGNC:19051 Merged/Split SCA23 HGNC:8820|PDYN|Approved -HGNC:19063 Entry Withdrawn P2RY10P1 -HGNC:19065 Entry Withdrawn SCAR6 -HGNC:19105 Merged/Split LCA9 HGNC:17877|NMNAT1|Approved -HGNC:19111 Merged/Split TAS2R23 HGNC:19108|TAS2R19|Approved -HGNC:19130 Merged/Split C6orf193 HGNC:21577|KDM1B|Approved -HGNC:19144 Entry Withdrawn MMVP1 -HGNC:19145 Entry Withdrawn MMVP2 -HGNC:19186 Entry Withdrawn SCASI -HGNC:19188 Entry Withdrawn NYS4 -HGNC:19210 Entry Withdrawn DFNB38 -HGNC:19211 Merged/Split DFNB39 HGNC:4893|HGF|Approved -HGNC:19242 Entry Withdrawn HCG2P7 -HGNC:19243 Entry Withdrawn HCG2P8 -HGNC:19244 Merged/Split RHBDL4 HGNC:16502|RHBDL3|Approved -HGNC:19249 Entry Withdrawn DGCR7 -HGNC:19284 Entry Withdrawn C14orf7 -HGNC:19301 Entry Withdrawn MRX81 -HGNC:19324 Entry Withdrawn DYX7 -HGNC:19333 Merged/Split KIAA1794 HGNC:25568|FANCI|Approved -HGNC:19345 Merged/Split GPR129 HGNC:19061|FFAR4|Approved -HGNC:19346 Entry Withdrawn GPR130 -HGNC:19352 Entry Withdrawn DYX6 -HGNC:19376 Merged/Split CELIAC3 HGNC:2505|CTLA4|Approved -HGNC:19377 Merged/Split CELIAC4 HGNC:7609|MYO9B|Approved -HGNC:19378 Entry Withdrawn CELIAC2 -HGNC:19430 Entry Withdrawn RPS17P4 -HGNC:19432 Merged/Split OR4Q4 HGNC:15426|OR4Q3|Approved -HGNC:19434 Merged/Split OR11H8P HGNC:14716|OR11H2|Approved -HGNC:19435 Entry Withdrawn C14orf16 -HGNC:19438 Merged/Split RP31 HGNC:21653|TOPORS|Approved -HGNC:19545 Merged/Split OR4F20P HGNC:15395|OR4F8P|Approved -HGNC:19546 Merged/Split OR13I2P HGNC:14732|OR13I1P|Approved -HGNC:19547 Merged/Split OR52Y2P HGNC:15240|OR52Y1P|Approved -HGNC:19548 Merged/Split OR51P2P HGNC:14762|OR51P1P|Approved -HGNC:19549 Merged/Split OR51G3P HGNC:14738|OR51G1|Approved -HGNC:19550 Merged/Split OR5AK5P HGNC:15250|OR5AK1P|Approved -HGNC:19551 Entry Withdrawn OR2A23P -HGNC:19552 Merged/Split OR9P2P HGNC:15097|OR9P1P|Approved -HGNC:19553 Merged/Split OR7E134P HGNC:14688|OR7E83P|Approved -HGNC:19554 Entry Withdrawn OR2A24P -HGNC:19555 Entry Withdrawn OR7E135P -HGNC:19556 Merged/Split OR52M4 HGNC:15226|OR52M2P|Approved -HGNC:19558 Merged/Split OR7E137P HGNC:8434|OR7E59P|Approved -HGNC:19559 Merged/Split OR7E138P HGNC:8412|OR7E39P|Approved -HGNC:19560 Merged/Split OR7E139P HGNC:19557|OR7E136P|Approved -HGNC:19563 Entry Withdrawn OR9A5P -HGNC:19564 Merged/Split OR9A6P HGNC:15094|OR9A3P|Approved -HGNC:19565 Merged/Split OR2A26 HGNC:8232|OR2A5|Approved -HGNC:19566 Merged/Split OR2A27 HGNC:19562|OR2A25|Approved -HGNC:19567 Merged/Split OR2A28P HGNC:15085|OR2A15P|Approved -HGNC:19568 Merged/Split OR6Y2 HGNC:14823|OR6Y1|Approved -HGNC:19570 Merged/Split OR2L11 HGNC:15011|OR2L5|Approved -HGNC:19571 Merged/Split OR2W8P HGNC:15021|OR2W3|Approved -HGNC:19572 Merged/Split OR2T9 HGNC:15018|OR2T6|Approved -HGNC:19577 Merged/Split OR2L12 HGNC:8266|OR2L2|Approved -HGNC:19581 Merged/Split OR52J4P HGNC:14797|OR52J2P|Approved -HGNC:19584 Merged/Split OR5B20P HGNC:15267|OR5B17|Approved -HGNC:19585 Merged/Split OR10G10P HGNC:15129|OR10G9|Approved -HGNC:19586 Entry Withdrawn OR7E143P -HGNC:19588 Merged/Split OR7E147P HGNC:19557|OR7E136P|Approved -HGNC:19590 Merged/Split OR2L14 HGNC:19578|OR2L13|Approved -HGNC:19591 Merged/Split OR7A20P HGNC:8361|OR7A15P|Approved -HGNC:19593 Merged/Split OR2M6 HGNC:8269|OR2M3|Approved -HGNC:19595 Merged/Split OR7E151P HGNC:8385|OR7E14P|Approved -HGNC:19598 Merged/Split OR51A12 HGNC:19597|OR51V1|Approved -HGNC:19601 Merged/Split OR51J2 HGNC:14856|OR51J1|Approved -HGNC:19602 Merged/Split OR51A13 HGNC:15185|OR51A10P|Approved -HGNC:19603 Merged/Split OR55B2P HGNC:15241|OR55B1P|Approved -HGNC:19604 Merged/Split OR2AG3 HGNC:15142|OR2AG1|Approved -HGNC:19605 Merged/Split OR4C17P HGNC:14700|OR4C4P|Approved -HGNC:19608 Merged/Split OR4A22P HGNC:15154|OR4A17P|Approved -HGNC:19609 Merged/Split OR9G6 HGNC:15320|OR9G2P|Approved -HGNC:19610 Merged/Split OR5G6P HGNC:15287|OR5G3|Approved -HGNC:19614 Merged/Split OR4A25P HGNC:15147|OR4A10P|Approved -HGNC:19615 Merged/Split OR5BQ2P HGNC:15278|OR5BQ1P|Approved -HGNC:19617 Merged/Split OR7E144P HGNC:8382|OR7E11P|Approved -HGNC:19621 Merged/Split OR8G4 HGNC:8485|OR8G2P|Approved -HGNC:19623 Merged/Split OR8G6 HGNC:19622|OR8G5|Approved -HGNC:19624 Merged/Split OR8B13P HGNC:8476|OR8B7P|Approved -HGNC:19626 Merged/Split OR7E150P HGNC:19642|OR7E148P|Approved -HGNC:19640 Merged/Split OR10AE2P HGNC:14990|OR10AE1P|Approved -HGNC:19641 Merged/Split OR7E133P HGNC:8400|OR7E28P|Approved -HGNC:19643 Entry Withdrawn OR7E141P -HGNC:19644 Entry Withdrawn OR7E142P -HGNC:19645 Merged/Split OR5M15P HGNC:15057|OR5M14P|Approved -HGNC:19646 Merged/Split OR2AU1P HGNC:8278|OR2U1P|Approved -HGNC:19724 Merged/Split C21orf112 HGNC:1623|CCT8|Approved -HGNC:19726 Entry Withdrawn C21orf114 -HGNC:19728 Merged/Split C21orf124 HGNC:8819|PDXK|Approved -HGNC:19729 Merged/Split FAM27A HGNC:23668|FAM27C|Approved -HGNC:19746 Merged/Split C21orf115 HGNC:14616|PLAC4|Approved -HGNC:19830 Merged/Split NCRNA00291 HGNC:19739|TTC6|Approved -HGNC:19850 Entry Withdrawn C14orf40 -HGNC:19851 Merged/Split C14orf41 HGNC:8060|NUMB|Approved -HGNC:19852 Merged/Split C14orf42 HGNC:33159|ACOT6|Approved -HGNC:19882 Merged/Split EMILIN5 HGNC:16123|EMILIN3|Approved -HGNC:19951 Entry Withdrawn DYX8 -HGNC:19976 Merged/Split GPR134 HGNC:16291|HTR5BP|Approved -HGNC:19981 Entry Withdrawn OTSC4 -HGNC:19984 Merged/Split DFNA51 HGNC:11828|TJP2|Approved -HGNC:19996 Merged/Split GPR140 HGNC:24828|MRGPRF|Approved -HGNC:19999 Entry Withdrawn ZNF604P -HGNC:20042 Merged/Split ZNF409 HGNC:20152|ZFHX2|Approved -HGNC:20057 Merged/Split UBE2L7P HGNC:12486|UBE2L1|Approved -HGNC:20094 Entry Withdrawn PFM3 -HGNC:20098 Merged/Split C14orf51 HGNC:13112|ZBTB25|Approved -HGNC:20103 Entry Withdrawn C14orf56 -HGNC:20104 Entry Withdrawn C14orf57 -HGNC:20107 Merged/Split C14orf60 HGNC:8010|NRXN3|Approved -HGNC:20108 Merged/Split C14orf61 HGNC:20359|CEP128|Approved -HGNC:20109 Merged/Split C14orf62 HGNC:27510|SNHG10|Approved -HGNC:20112 Entry Withdrawn C14orf65 -HGNC:20114 Merged/Split C14orf67 HGNC:21064|WDR25|Approved -HGNC:20124 Merged/Split C14orf77 HGNC:33795|C14orf180|Approved -HGNC:20128 Entry Withdrawn C14orf81 -HGNC:20135 Merged/Split C14orf88 HGNC:20346|C14orf132|Approved -HGNC:20138 Entry Withdrawn C14orf91 -HGNC:20158 Merged/Split NCRNA00220 HGNC:32545|TMEM253|Approved -HGNC:20167 Merged/Split C14orf96 HGNC:213|ADAM6|Approved -HGNC:20170 Entry Withdrawn C14orf99 -HGNC:20172 Merged/Split C19orf9 HGNC:13175|ZNF99|Approved -HGNC:20181 Merged/Split DFNB42 HGNC:28741|ILDR1|Approved -HGNC:20206 Entry Withdrawn MCDR3 -HGNC:20211 Merged/Split KIAA0125 HGNC:19955|FAM30A|Approved -HGNC:20212 Merged/Split C14orf116 HGNC:1928|FOXN3|Approved -HGNC:20216 Entry Withdrawn C14orf113 -HGNC:20221 Merged/Split C14orf117 HGNC:19853|MIDEAS|Approved -HGNC:20228 Entry Withdrawn MRX84 -HGNC:20235 Entry Withdrawn IBD8 -HGNC:20236 Entry Withdrawn IBD9 -HGNC:20238 Entry Withdrawn OTSC5 -HGNC:20350 Entry Withdrawn C14orf136 -HGNC:20353 Merged/Split LINC00341 HGNC:19861|SYNE3|Approved -HGNC:20355 Merged/Split C14orf141 HGNC:6715|LTBP2|Approved -HGNC:20375 Entry Withdrawn OTSC6 -HGNC:20394 Entry Withdrawn CLAM -HGNC:20405 Merged/Split KRT6D HGNC:6443|KRT6A|Approved -HGNC:20408 Entry Withdrawn DFNB40 -HGNC:20424 Merged/Split HCG16 HGNC:18361|HCG15|Approved -HGNC:20481 Entry Withdrawn C6orf50 -HGNC:20490 Merged/Split C14orf151 HGNC:23791|INF2|Approved -HGNC:20496 Entry Withdrawn C14orf157 -HGNC:20504 Entry Withdrawn HIST2H3B -HGNC:20518 Merged/Split KRTAP18-1 HGNC:22966|KRTAP10-1|Approved -HGNC:20519 Merged/Split KRTAP18-2 HGNC:22967|KRTAP10-2|Approved -HGNC:20520 Merged/Split KRTAP18-3 HGNC:22968|KRTAP10-3|Approved -HGNC:20522 Merged/Split KRTAP18-5 HGNC:22969|KRTAP10-5|Approved -HGNC:20524 Merged/Split KRTAP18-7 HGNC:22970|KRTAP10-7|Approved -HGNC:20526 Merged/Split KRTAP18-9 HGNC:22971|KRTAP10-9|Approved -HGNC:20574 Merged/Split CRAC1 HGNC:2001|GREM1|Approved -HGNC:20600 Merged/Split WARBM1 HGNC:17063|RAB3GAP1|Approved -HGNC:20613 Merged/Split TDRD4 HGNC:10060|RNF17|Approved -HGNC:20643 Merged/Split TAS2R65P HGNC:19107|TAS2R18P|Approved -HGNC:20666 Merged/Split HGPPS HGNC:13433|ROBO3|Approved -HGNC:20680 Entry Withdrawn TELAB1 -HGNC:20683 Entry Withdrawn CANDN1 -HGNC:20684 Entry Withdrawn SCA25 -HGNC:20689 Merged/Split ZNF424 HGNC:13125|ZNF57|Approved -HGNC:20752 Merged/Split ZNF427 HGNC:13854|ZKSCAN4|Approved -HGNC:20769 Entry Withdrawn MYMY3 -HGNC:20791 Entry Withdrawn DFNA42 -HGNC:20805 Merged/Split SCKL2 HGNC:9891|RBBP8|Approved -HGNC:20806 Entry Withdrawn SCKL3 -HGNC:20888 Merged/Split CORS2 HGNC:25018|TMEM216|Approved -HGNC:20909 Merged/Split ZNF539 HGNC:13047|ZNF254|Approved -HGNC:20950 Entry Withdrawn C9orf56 -HGNC:20963 Merged/Split DFNB63 HGNC:25033|LRTOMT|Approved -HGNC:20975 Entry Withdrawn SMAN1 -HGNC:20981 Merged/Split LRRN5 HGNC:16914|LRRN2|Approved -HGNC:21038 Merged/Split ZNF448 HGNC:12955|ZKSCAN7|Approved -HGNC:21058 Merged/Split MYMY2 HGNC:14539|RNF213|Approved -HGNC:21089 Merged/Split JBTS1 HGNC:21474|INPP5E|Approved -HGNC:21093 Merged/Split C6orf91 HGNC:21118|ECT2L|Approved -HGNC:21112 Merged/Split LINC00266-3 HGNC:51690|SEPTIN14P6|Approved -HGNC:21116 Merged/Split FRCL1 HGNC:15621|SLC35D3|Approved -HGNC:21119 Entry Withdrawn DNM1DN2@ -HGNC:21120 Merged/Split DNM1DN3@ HGNC:35175|DNM1P28|Approved, HGNC:35176|DNM1P29|Approved, HGNC:35177|DNM1P30|Approved -HGNC:21121 Merged/Split DNM1DN4@ HGNC:35177|DNM1P30|Approved, HGNC:35178|DNM1P31|Approved, HGNC:35179|DNM1P32|Approved -HGNC:21123 Entry Withdrawn DNM1DN6 -HGNC:21124 Merged/Split DNM1DN7@ HGNC:35180|DNM1P33|Approved -HGNC:21125 Merged/Split DNM1DN8@ HGNC:35181|DNM1P34|Approved, HGNC:35182|DNM1P35|Approved, HGNC:35186|DNM1P36|Approved -HGNC:21127 Merged/Split DNM1DN10@ HGNC:35187|DNM1P37|Approved, HGNC:35188|DNM1P38|Approved -HGNC:21128 Merged/Split DNM1DN11@ HGNC:35188|DNM1P38|Approved, HGNC:35189|DNM1P39|Approved, HGNC:35190|DNM1P40|Approved, HGNC:35191|DNM1P41|Approved, HGNC:35188|DNM1P38|Approved, HGNC:35193|DNM1P43|Approved, HGNC:35194|DNM1P44|Approved -HGNC:21129 Merged/Split DNM1DN12@ HGNC:35195|DNM1P45|Approved -HGNC:21130 Entry Withdrawn DNM1DN13 -HGNC:21131 Merged/Split DNM1DN14@ HGNC:35199|DNM1P46|Approved, HGNC:35200|DNM1P47|Approved -HGNC:21132 Merged/Split DNM1DN15@ HGNC:35171|DNM1P24|Approved, HGNC:35172|DNM1P25|Approved -HGNC:21133 Merged/Split DNM1DN16@ HGNC:35173|DNM1P26|Approved, HGNC:35174|DNM1P27|Approved -HGNC:21137 Entry Withdrawn DNM1DN20 -HGNC:21138 Entry Withdrawn DNM1DN21 -HGNC:21139 Entry Withdrawn DNM1DN22 -HGNC:21141 Entry Withdrawn DNM1DN23 -HGNC:21164 Merged/Split C6orf92 HGNC:21213|ARFGEF3|Approved -HGNC:21178 Merged/Split C6orf98 HGNC:17089|SYNE1|Approved -HGNC:21183 Merged/Split FNDC2 HGNC:21184|FNDC1|Approved -HGNC:21201 Merged/Split C6orf102 HGNC:21202|KIF6|Approved -HGNC:21229 Merged/Split C6orf114 HGNC:21096|GFOD1|Approved -HGNC:21242 Merged/Split HCG8 HGNC:13924|ZNRD1ASP|Approved -HGNC:21287 Merged/Split C6orf131 HGNC:4678|GUCA1A|Approved -HGNC:21291 Merged/Split C10orf43 HGNC:23591|FAM25HP|Entry Withdrawn -HGNC:21318 Merged/Split TMEM13 HGNC:19992|OPN5|Approved -HGNC:21322 Merged/Split DFNB68 HGNC:3169|S1PR2|Approved -HGNC:21340 Merged/Split SPG23 HGNC:29043|DSTYK|Approved -HGNC:21341 Entry Withdrawn GLC1K -HGNC:21358 Merged/Split C6orf144 HGNC:32789|GFRAL|Approved -HGNC:21363 Merged/Split C6orf147 HGNC:21366|KHDC1|Approved -HGNC:21369 Merged/Split C6orf152 HGNC:31923|LCA5|Approved -HGNC:21402 Entry Withdrawn DFNA53 -HGNC:21433 Entry Withdrawn SLC4A7OS -HGNC:21477 Merged/Split DHRS6 HGNC:32389|BDH2|Approved -HGNC:21486 Merged/Split C6orf171 HGNC:21485|TBC1D32|Approved -HGNC:21491 Merged/Split VKCFD2 HGNC:23663|VKORC1|Approved -HGNC:21508 Merged/Split XAGE1D HGNC:25400|XAGE1B|Approved -HGNC:21519 Entry Withdrawn C8orf67 -HGNC:21546 Merged/Split C6orf178 HGNC:21555|EYS|Approved -HGNC:21547 Merged/Split C6orf179 HGNC:21555|EYS|Approved -HGNC:21548 Merged/Split C6orf180 HGNC:21555|EYS|Approved -HGNC:21554 Merged/Split EGFL10 HGNC:21555|EYS|Approved -HGNC:21562 Merged/Split C6orf183 HGNC:21565|CCDC162P|Approved -HGNC:21563 Merged/Split C6orf184 HGNC:21565|CCDC162P|Approved -HGNC:21567 Merged/Split C6orf187 HGNC:33391|CALHM6|Approved -HGNC:21585 Merged/Split GCNT5 HGNC:4204|GCNT2|Approved -HGNC:21618 Merged/Split AKD2 HGNC:33814|AK9|Approved -HGNC:21619 Entry Withdrawn C6orf200 -HGNC:21621 Entry Withdrawn C6orf202 -HGNC:21626 Entry Withdrawn MRX82 -HGNC:21660 Entry Withdrawn HCP5P6 -HGNC:21662 Entry Withdrawn HCP5P2 -HGNC:21670 Entry Withdrawn HCP5P15 -HGNC:21671 Entry Withdrawn HCP5P12 -HGNC:21692 Entry Withdrawn C15orf31 -HGNC:21712 Merged/Split C11orf32 HGNC:11185|SORL1|Approved -HGNC:21804 Entry Withdrawn C8orf63 -HGNC:21902 Entry Withdrawn RP32 -HGNC:22120 Entry Withdrawn BMIQ6 -HGNC:22400 Entry Withdrawn DFNB45 -HGNC:22405 Merged/Split PRAMEF21 HGNC:25224|PRAMEF20|Approved -HGNC:22433 Entry Withdrawn USH1H -HGNC:22494 Merged/Split SPG26 HGNC:4117|B4GALNT1|Approved -HGNC:22929 Merged/Split HCG4P10 HGNC:21241|HCG4|Approved -HGNC:22993 Entry Withdrawn SPG24 -HGNC:23021 Entry Withdrawn VRK3P1 -HGNC:23036 Merged/Split C6orf207 HGNC:21569|THEMIS|Approved -HGNC:23050 Merged/Split MYETS1 HGNC:17005|CNMD|Approved -HGNC:23054 Entry Withdrawn AIS2 -HGNC:23083 Entry Withdrawn AIS3 -HGNC:23084 Entry Withdrawn HCP5P3 -HGNC:23110 Merged/Split PCDH23 HGNC:23111|DCHS2|Approved -HGNC:23127 Entry Withdrawn C21orf118 -HGNC:23129 Merged/Split C21orf120 HGNC:1305|C21orf62|Approved -HGNC:23152 Merged/Split HSN2 HGNC:14540|WNK1|Approved -HGNC:23205 Merged/Split AUNA1 HGNC:15480|DIAPH3|Approved -HGNC:23223 Merged/Split DFNB44 HGNC:232|ADCY1|Approved -HGNC:23240 Merged/Split ZFP106 HGNC:12886|ZNF106|Approved -HGNC:23256 Entry Withdrawn GLC1H -HGNC:23262 Entry Withdrawn LINC00610 -HGNC:23331 Merged/Split FSD1CL HGNC:13753|FSD1L|Approved -HGNC:23335 Merged/Split ANXA8L2 HGNC:23334|ANXA8L1|Approved -HGNC:23374 Entry Withdrawn C9orf33 -HGNC:23388 Merged/Split C9orf35 HGNC:23825|MOB3B|Approved -HGNC:23398 Entry Withdrawn C9orf38 -HGNC:23403 Merged/Split MRC1L1 HGNC:7228|MRC1|Approved -HGNC:23413 Entry Withdrawn HCG2P6 -HGNC:23417 Merged/Split FAM21B HGNC:23416|WASHC2A|Approved -HGNC:23418 Entry Withdrawn WASHC2D -HGNC:23420 Merged/Split C10orf12 HGNC:29503|LCOR|Approved -HGNC:23422 Merged/Split PTPN20A HGNC:23423|PTPN20|Approved -HGNC:23430 Merged/Split C10orf14 HGNC:23523|JAKMIP3|Approved -HGNC:23431 Merged/Split ANKRD14 HGNC:26724|ANKS6|Approved -HGNC:23446 Entry Withdrawn FAM22C -HGNC:23453 Merged/Split FRMPD2P2 HGNC:16843|FRMPD2B|Approved -HGNC:23454 Merged/Split PDZD5C HGNC:28572|FRMPD2|Approved -HGNC:23457 Merged/Split ASAH2C HGNC:23456|ASAH2B|Approved -HGNC:23461 Entry Withdrawn CTGLF8P -HGNC:23462 Merged/Split AGAP10 HGNC:23659|AGAP10P|Approved -HGNC:23464 Merged/Split AGAP8 HGNC:23459|AGAP4|Approved -HGNC:23474 Merged/Split FAM23B HGNC:23473|TMEM236|Approved -HGNC:23507 Merged/Split RASGEF2 HGNC:29374|KNDC1|Approved -HGNC:23544 Merged/Split RPL23AP9 HGNC:23543|RPL23AP8|Approved -HGNC:23566 Entry Withdrawn DFNA54 -HGNC:23580 Merged/Split CTSLP5 HGNC:2540|CTSLP2|Approved -HGNC:23588 Merged/Split FAM25D HGNC:23587|FAM25E|Approved -HGNC:23591 Entry Withdrawn FAM25HP -HGNC:23635 Merged/Split CTSLP7 HGNC:2540|CTSLP2|Approved -HGNC:23636 Merged/Split GLUD1P7 HGNC:4337|GLUD1P2|Approved -HGNC:23637 Merged/Split GLUD1P8 HGNC:23610|GLUD1P6|Approved -HGNC:23646 Merged/Split GLC1G HGNC:30696|WDR36|Approved -HGNC:23653 Merged/Split BMS1P5 HGNC:23649|BMS1P1|Approved -HGNC:23654 Merged/Split BMS1P6 HGNC:23650|BMS1P2|Approved -HGNC:23669 Merged/Split C9orf47 HGNC:3167|S1PR3|Approved -HGNC:23670 Merged/Split C9orf48 HGNC:19916|KIF24|Approved -HGNC:23701 Merged/Split SNAX1 HGNC:25358|RNF170|Approved -HGNC:23702 Merged/Split PPCD3 HGNC:11642|ZEB1|Approved -HGNC:23722 Merged/Split SCAR1 HGNC:445|SETX|Approved -HGNC:23778 Entry Withdrawn CHES1L1 -HGNC:23779 Merged/Split ZNF505 HGNC:13169|ZNF93|Approved -HGNC:23819 Entry Withdrawn FAM67A -HGNC:23823 Merged/Split MLL3P HGNC:15730|BAGE4|Approved -HGNC:23824 Entry Withdrawn HPLH1 -HGNC:23827 Entry Withdrawn BMIQ1 -HGNC:23828 Entry Withdrawn BMIQ2 -HGNC:23829 Entry Withdrawn BMIQ3 -HGNC:23830 Merged/Split BMIQ4 HGNC:12518|UCP2|Approved -HGNC:23869 Merged/Split FAM8A8P HGNC:16375|FAM8A4P|Approved -HGNC:23944 Merged/Split CYCSP54 HGNC:23943|CYCSP49|Approved -HGNC:23948 Merged/Split GAPDHP18 HGNC:37765|GAPDHP17|Approved -HGNC:24033 Merged/Split TMEM133 HGNC:26545|ARHGAP42|Approved -HGNC:24038 Entry Withdrawn DFNB54 -HGNC:24095 Entry Withdrawn NCRNA00250 -HGNC:24106 Merged/Split EKV3 HGNC:559|AP1S1|Approved -HGNC:24189 Merged/Split WHSC1L1P HGNC:14647|WHSC1L2P|Approved -HGNC:24214 Merged/Split TTLL11-IT1 HGNC:18113|TTLL11|Approved -HGNC:24242 Merged/Split C2orf12 HGNC:9907|RBMS1|Approved -HGNC:24312 Merged/Split SCXA HGNC:32322|SCX|Approved -HGNC:24367 Entry Withdrawn DFNB51 -HGNC:24387 Merged/Split CYCSP13 HGNC:24386|CYCSP12|Approved -HGNC:24747 Merged/Split SEC63D1 HGNC:20193|HFM1|Approved -HGNC:24777 Merged/Split C12orf63 HGNC:26456|CFAP54|Approved -HGNC:24780 Merged/Split DNAH12L HGNC:2943|DNAH12|Approved -HGNC:24799 Merged/Split DCDC5 HGNC:20625|DCDC1|Approved -HGNC:24806 Merged/Split DNHD3 HGNC:2948|DNAH2|Approved -HGNC:24807 Merged/Split C9orf113 HGNC:17841|MORN5|Approved -HGNC:24813 Merged/Split FOXD4L2 HGNC:23762|FOXD4L4|Approved -HGNC:24815 Entry Withdrawn DEFA8 -HGNC:24901 Merged/Split C19orf49 HGNC:3233|MEGF8|Approved -HGNC:24906 Entry Withdrawn MYP11 -HGNC:24907 Entry Withdrawn FAM67B -HGNC:25101 Entry Withdrawn ZNF384OS -HGNC:25170 Merged/Split MRX85 HGNC:2928|DMD|Approved -HGNC:25212 Entry Withdrawn MRX86 -HGNC:25254 Entry Withdrawn C18orf57 -HGNC:25264 Merged/Split C2orf31 HGNC:4043|FZD5|Approved -HGNC:25273 Merged/Split PLXNA4B HGNC:9102|PLXNA4|Approved -HGNC:25290 Merged/Split C15orf51 HGNC:35199|DNM1P46|Approved -HGNC:25293 Merged/Split C19orf17 HGNC:23114|ELL|Approved -HGNC:25362 Merged/Split BRCTD1 HGNC:25408|SLF1|Approved -HGNC:25411 Merged/Split C8orf57 HGNC:7162|MMP16|Approved -HGNC:25466 Merged/Split MRX87 HGNC:18060|ARX|Approved -HGNC:25711 Merged/Split RUNDC2A HGNC:30542|SNX29|Approved -HGNC:25767 Entry Withdrawn PRAMEF16 -HGNC:25779 Merged/Split C10orf68 HGNC:26533|CCDC7|Approved -HGNC:25855 Entry Withdrawn SPG25 -HGNC:25861 Merged/Split C5orf23 HGNC:7945|NPR3|Approved -HGNC:25912 Entry Withdrawn C8orf28 -HGNC:25933 Merged/Split MICALCL HGNC:24693|MICAL2|Approved -HGNC:25943 Entry Withdrawn C9orf118 -HGNC:25946 Merged/Split C1orf218 HGNC:28404|DENND1B|Approved -HGNC:25977 Merged/Split C18orf49 HGNC:22916|ZCCHC2|Approved -HGNC:26030 Merged/Split CXorf35 HGNC:28615|ARMCX4|Approved -HGNC:26071 Entry Withdrawn SPG27 -HGNC:26093 Entry Withdrawn C9orf63 -HGNC:26130 Merged/Split KIAA1840 HGNC:11226|SPG11|Approved -HGNC:26140 Entry Withdrawn C9orf149 -HGNC:26206 Entry Withdrawn C17orf84 -HGNC:26240 Merged/Split CXorf45 HGNC:30881|ALG13|Approved -HGNC:26298 Entry Withdrawn DEFT4P -HGNC:26322 Merged/Split C2orf48 HGNC:10452|RRM2|Approved -HGNC:26362 Entry Withdrawn C18orf61 -HGNC:26377 Merged/Split C6orf224 HGNC:33814|AK9|Approved -HGNC:26382 Merged/Split C10orf93 HGNC:25247|CFAP46|Approved -HGNC:26410 Merged/Split LINC00889 HGNC:3670|FGF13|Approved -HGNC:26418 Entry Withdrawn TMEM155 -HGNC:26471 Merged/Split ZNF553 HGNC:13114|ZNF48|Approved -HGNC:26492 Merged/Split C1orf188 HGNC:32947|RNF207|Approved -HGNC:26500 Merged/Split C1orf215 HGNC:6510|STMN1|Approved -HGNC:26547 Entry Withdrawn DFNY1 -HGNC:26589 Entry Withdrawn C3orf53 -HGNC:26603 Entry Withdrawn DEFT6P -HGNC:26612 Entry Withdrawn RNF165-IT1 -HGNC:26619 Entry Withdrawn CRIPAK -HGNC:26631 Merged/Split C18orf58 HGNC:26270|PIEZO2|Approved -HGNC:26642 Merged/Split C9orf94 HGNC:14632|ADAMTSL1|Approved -HGNC:26651 Merged/Split C11orf47 HGNC:26532|DNHD1|Approved -HGNC:26738 Merged/Split DNHL1 HGNC:2951|DNAH6|Approved -HGNC:26774 Merged/Split DFNB57 HGNC:26257|PDZD7|Approved -HGNC:26844 Merged/Split C17orf47 HGNC:9165|SEPTIN4|Approved -HGNC:26867 Merged/Split DNHD2 HGNC:2943|DNAH12|Approved -HGNC:26872 Merged/Split DNAHL1 HGNC:2946|DNAH17|Approved -HGNC:26986 Entry Withdrawn GLC1J -HGNC:27073 Entry Withdrawn GATM-AS1 -HGNC:27144 Merged/Split C1orf84 HGNC:29040|SZT2|Approved -HGNC:27253 Merged/Split C10orf64 HGNC:29323|WDFY4|Approved -HGNC:27255 Merged/Split SCA28 HGNC:315|AFG3L2|Approved -HGNC:27280 Merged/Split DNHD1L HGNC:26532|DNHD1|Approved -HGNC:27298 Merged/Split CXorf30 HGNC:26708|CFAP47|Approved -HGNC:27299 Merged/Split NBPF24 HGNC:31993|NBPF11|Approved -HGNC:27311 Merged/Split SH3D20 HGNC:31813|ARHGAP27|Approved -HGNC:27448 Merged/Split MIR4697HG HGNC:32326|IGSF9B|Approved -HGNC:27589 Merged/Split FAM38B2 HGNC:26270|PIEZO2|Approved -HGNC:27651 Merged/Split HNRNPU-AS1 HGNC:5048|HNRNPU|Approved -HGNC:27887 Merged/Split C12orf74 HGNC:33829|PLEKHG7|Approved -HGNC:27917 Merged/Split C1orf222 HGNC:29368|CFAP74|Approved -HGNC:28023 Merged/Split C9orf164 HGNC:10732|SEMA4D|Approved -HGNC:28098 Merged/Split LINC00950 HGNC:21427|TMEM8B|Approved -HGNC:28113 Entry Withdrawn DFNB65 -HGNC:28138 Merged/Split C9orf99 HGNC:18572|HSDL2|Approved -HGNC:28252 Entry Withdrawn TMEM137 -HGNC:28293 Merged/Split PRR8 HGNC:27223|RBM33|Approved -HGNC:28329 Merged/Split C16orf47 HGNC:777|ZFHX3|Approved -HGNC:28411 Merged/Split C1orf67 HGNC:2945|DNAH14|Approved -HGNC:28481 Merged/Split ATXN7L4 HGNC:22210|ATXN7L1|Approved -HGNC:28516 Merged/Split CSAG3B HGNC:16847|CSAG2|Approved -HGNC:28545 Merged/Split C11orf69 HGNC:24836|KIAA1549L|Approved -HGNC:28546 Merged/Split CXorf22 HGNC:26708|CFAP47|Approved -HGNC:28549 Merged/Split FNDC6 HGNC:6004|IL20RB|Approved -HGNC:28686 Entry Withdrawn CABLES1L -HGNC:28822 Entry Withdrawn AKIRIN2-AS1 -HGNC:28876 Entry Withdrawn DFNB55 -HGNC:28877 Merged/Split DFNB53 HGNC:2187|COL11A2|Approved -HGNC:29015 Entry Withdrawn HCG2P4 -HGNC:29019 Merged/Split KIAA0367 HGNC:25209|PRUNE2|Approved -HGNC:29042 Entry Withdrawn C8orf27 -HGNC:29055 Merged/Split KIAA0507 HGNC:24255|RRP15|Approved -HGNC:29111 Merged/Split KIAA0754 HGNC:13664|MACF1|Approved -HGNC:29133 Merged/Split DEFA2 HGNC:2761|DEFA1|Approved -HGNC:29311 Entry Withdrawn C18orf41 -HGNC:29439 Entry Withdrawn DFNB62 -HGNC:29444 Merged/Split MKS3 HGNC:28396|TMEM67|Approved -HGNC:29648 Entry Withdrawn CLDN11CL -HGNC:29651 Merged/Split CTAGEP HGNC:25111|CTAGE7P|Approved -HGNC:29844 Merged/Split C9orf155 HGNC:15451|GOLM1|Approved -HGNC:30017 Merged/Split SPG30 HGNC:888|KIF1A|Approved -HGNC:30028 Entry Withdrawn GLC3C -HGNC:30058 Entry Withdrawn MAGI2-IT1 -HGNC:30161 Entry Withdrawn SPG29 -HGNC:30165 Entry Withdrawn LINC00614 -HGNC:30274 Merged/Split TSSK5P2 HGNC:31931|TSSK5P|Approved -HGNC:30328 Entry Withdrawn ZNF522 -HGNC:30374 Merged/Split C10orf138 HGNC:33787|EEF1AKMT2|Approved -HGNC:30474 Entry Withdrawn DEFT2P -HGNC:30639 Merged/Split SSXP2 HGNC:19652|SSX6P|Approved -HGNC:30679 Merged/Split XAGE1C HGNC:25400|XAGE1B|Approved -HGNC:30680 Merged/Split XAGE2B HGNC:4112|XAGE2|Approved -HGNC:30769 Entry Withdrawn RN7SKL -HGNC:30786 Entry Withdrawn HCG2P2 -HGNC:30928 Entry Withdrawn C15orf49 -HGNC:30944 Merged/Split ZNF647 HGNC:13044|ZNF250|Approved -HGNC:30976 Entry Withdrawn HCP5P14 -HGNC:30977 Entry Withdrawn HCP5P13 -HGNC:30985 Entry Withdrawn HCP5P8 -HGNC:30986 Entry Withdrawn C6orf215 -HGNC:30995 Merged/Split LCCS1 HGNC:4315|GLE1|Approved -HGNC:30996 Entry Withdrawn HDLCQ1 -HGNC:30997 Entry Withdrawn CTPL1 -HGNC:30998 Entry Withdrawn CPAT1 -HGNC:31013 Entry Withdrawn PSORS9 -HGNC:31020 Merged/Split C2orf20 HGNC:888|KIF1A|Approved -HGNC:31025 Entry Withdrawn FBXO22-AS1 -HGNC:31075 Merged/Split SLC2A3P3 HGNC:18301|SLC2A14|Approved -HGNC:31084 Entry Withdrawn OTSC7 -HGNC:31085 Entry Withdrawn DFNB46 -HGNC:31086 Entry Withdrawn DFNB47 -HGNC:31097 Entry Withdrawn SCA26 -HGNC:31117 Entry Withdrawn BMIQ5 -HGNC:31122 Merged/Split ZNF286L HGNC:33241|ZNF286B|Approved -HGNC:31128 Merged/Split ABCB10P2 HGNC:14114|ABCB10P1|Approved -HGNC:31344 Merged/Split HCG12 HGNC:23640|ZNF322|Approved -HGNC:31348 Merged/Split DFNB48 HGNC:24579|CIB2|Approved -HGNC:31349 Merged/Split DFNB49 HGNC:26401|MARVELD2|Approved -HGNC:31361 Merged/Split C9orf101 HGNC:23432|CNTLN|Approved -HGNC:31366 Merged/Split C9orf55B HGNC:26079|DENND4C|Approved -HGNC:31373 Merged/Split C9orf108 HGNC:3167|S1PR3|Approved -HGNC:31376 Entry Withdrawn DYT15 -HGNC:31379 Merged/Split HMGB1L15 HGNC:4997|HMGB1P5|Approved -HGNC:31380 Entry Withdrawn DFNB50 -HGNC:31383 Merged/Split C12orf15 HGNC:26316|MYRFL|Approved -HGNC:31390 Entry Withdrawn NCRNA00090 -HGNC:31392 Entry Withdrawn PIK3R1OS -HGNC:31413 Entry Withdrawn IKBKAP-IT1 -HGNC:31424 Entry Withdrawn GVQW1 -HGNC:31431 Merged/Split C10orf102 HGNC:4338|GLUD1P3|Approved -HGNC:31443 Merged/Split PIP5K1L1 HGNC:23733|PIPSL|Approved -HGNC:31447 Merged/Split C10orf113 HGNC:16932|NEBL|Approved -HGNC:31449 Merged/Split LINC01552 HGNC:28716|C10orf67|Approved -HGNC:31453 Merged/Split C9orf151 HGNC:33879|DNLZ|Approved -HGNC:31600 Entry Withdrawn MIR220A -HGNC:31633 Entry Withdrawn MIRN321 -HGNC:31654 Merged/Split C10orf123 HGNC:25247|CFAP46|Approved -HGNC:31655 Merged/Split C10orf124 HGNC:25247|CFAP46|Approved -HGNC:31667 Merged/Split C10orf131 HGNC:31666|CC2D2B|Approved -HGNC:31669 Merged/Split C10orf133 HGNC:31668|GOLGA7B|Approved -HGNC:31688 Entry Withdrawn FAM41BY -HGNC:31691 Entry Withdrawn C18orf33 -HGNC:31727 Entry Withdrawn C18orf50 -HGNC:31728 Merged/Split HRMT1L5 HGNC:10894|PRMT5|Approved -HGNC:31841 Entry Withdrawn NCRNA00104 -HGNC:31842 Entry Withdrawn NCRNA00091 -HGNC:31844 Entry Withdrawn NCRNA00055 -HGNC:31846 Entry Withdrawn NCRNA00056 -HGNC:31847 Entry Withdrawn LINC00108 -HGNC:31866 Entry Withdrawn DFNM2 -HGNC:31877 Entry Withdrawn DFNB56 -HGNC:31912 Entry Withdrawn GLC1I -HGNC:31915 Entry Withdrawn FLYWCH1L1 -HGNC:31916 Merged/Split AUNX1 HGNC:8768|AIFM1|Approved -HGNC:31917 Merged/Split AGS2 HGNC:25671|RNASEH2B|Approved -HGNC:31919 Entry Withdrawn PSORS10 -HGNC:31941 Entry Withdrawn ANIB2 -HGNC:31942 Entry Withdrawn ANIB3 -HGNC:31943 Entry Withdrawn ANIB4 -HGNC:31965 Merged/Split DFNB77 HGNC:26521|LOXHD1|Approved -HGNC:31975 Merged/Split PDZK1P2 HGNC:31974|PDZK1P1|Approved -HGNC:31977 Merged/Split CBWD7 HGNC:31978|CBWD6|Approved -HGNC:31985 Merged/Split GPR89C HGNC:13840|GPR89B|Approved -HGNC:31994 Merged/Split KIAA1245 HGNC:24297|NBPF12|Approved -HGNC:31996 Merged/Split NBPF16 HGNC:28791|NBPF15|Approved -HGNC:32002 Merged/Split SPATA31A2 HGNC:23394|SPATA31A1|Approved -HGNC:32004 Merged/Split SPATA31A4 HGNC:32007|SPATA31A7|Approved -HGNC:32014 Merged/Split FAM27E1 HGNC:32013|FAM27E2|Approved -HGNC:32021 Entry Withdrawn C1orf134 -HGNC:32030 Merged/Split FAM74A2 HGNC:32032|FAM74A4|Approved -HGNC:32039 Entry Withdrawn C1orf136 -HGNC:32052 Merged/Split MIR453 HGNC:38349|MIR323B|Approved -HGNC:32078 Merged/Split MIR511-2 HGNC:32077|MIR511|Approved -HGNC:32157 Merged/Split C1orf178 HGNC:33624|BCL2L15|Approved -HGNC:32192 Merged/Split DFNB67 HGNC:21253|LHFPL5|Approved -HGNC:32193 Merged/Split DFNB66 HGNC:18141|DCDC2|Approved -HGNC:32197 Merged/Split UBE2D5P HGNC:33349|UBE2D3P1|Approved -HGNC:32230 Merged/Split LGMD1G HGNC:5037|HNRNPDL|Approved -HGNC:32244 Merged/Split REXO1L7P HGNC:32243|REXO1L6P|Approved -HGNC:32274 Entry Withdrawn C8orf60 -HGNC:32277 Merged/Split C8orf61 HGNC:2079|CLN8|Approved -HGNC:32282 Entry Withdrawn C8orf66 -HGNC:32285 Merged/Split ZNF742 HGNC:13124|ZNF56P|Approved -HGNC:32288 Entry Withdrawn FAM93A -HGNC:32289 Entry Withdrawn FAM93B -HGNC:32290 Merged/Split ERICH1-AS1 HGNC:2906|DLGAP2|Approved -HGNC:32303 Entry Withdrawn MCDR4 -HGNC:32314 Entry Withdrawn SPG32 -HGNC:32323 Merged/Split FAM203B HGNC:24161|HGH1|Approved -HGNC:32329 Entry Withdrawn C1orf193 -HGNC:32336 Merged/Split C1orf196 HGNC:29173|KAZN|Approved -HGNC:32338 Entry Withdrawn C1orf197 -HGNC:32352 Merged/Split VSIG6 HGNC:5658|IGHV4OR15-8|Approved -HGNC:32353 Merged/Split VSIG7 HGNC:5569|IGHV1OR15-9|Approved -HGNC:32354 Entry Withdrawn C15orf35 -HGNC:32358 Merged/Split LINC00594 HGNC:19712|DISP2|Approved -HGNC:32364 Entry Withdrawn C15orf45 -HGNC:32365 Merged/Split C11orf43 HGNC:5466|IGF2|Approved -HGNC:32383 Merged/Split RP33 HGNC:30859|SNRNP200|Approved -HGNC:32384 Merged/Split MPD2 HGNC:6912|MATR3|Approved -HGNC:32391 Entry Withdrawn PCNT1 -HGNC:32407 Merged/Split C3orf7 HGNC:2215|COL8A1|Approved -HGNC:32439 Entry Withdrawn XRCC6BP2 -HGNC:32546 Entry Withdrawn C11orf62 -HGNC:32549 Entry Withdrawn MYP4 -HGNC:32551 Entry Withdrawn MYP12 -HGNC:32552 Entry Withdrawn CMD1Q -HGNC:32582 Entry Withdrawn MYP13 -HGNC:32739 Entry Withdrawn SNORD3@ -HGNC:32778 Entry Withdrawn SNORD113@ -HGNC:32779 Entry Withdrawn SNORD114@ -HGNC:32780 Entry Withdrawn SNORD115@ -HGNC:32781 Entry Withdrawn SNORD116@ -HGNC:32782 Entry Withdrawn CLN9 -HGNC:32785 Entry Withdrawn EVR3 -HGNC:32786 Entry Withdrawn OPA4 -HGNC:32787 Entry Withdrawn OPA5 -HGNC:32816 Entry Withdrawn MIRN560 -HGNC:32821 Entry Withdrawn MIRN565 -HGNC:32822 Entry Withdrawn MIR566 -HGNC:32850 Entry Withdrawn MIRN594 -HGNC:32939 Entry Withdrawn OTSC8 -HGNC:32944 Entry Withdrawn SPG34 -HGNC:32945 Merged/Split SPG35 HGNC:21197|FA2H|Approved -HGNC:32959 Merged/Split C22orf35 HGNC:33425|MIAT|Approved -HGNC:32973 Entry Withdrawn SCAX2 -HGNC:32974 Entry Withdrawn SCAX3 -HGNC:32975 Entry Withdrawn SCAX4 -HGNC:32976 Entry Withdrawn SCAR3 -HGNC:32977 Merged/Split SCAR5 HGNC:28986|ZNF592|Approved -HGNC:32978 Merged/Split SCAR7 HGNC:2073|TPP1|Approved -HGNC:33103 Merged/Split DFNB70 HGNC:23166|PNPT1|Approved -HGNC:33120 Entry Withdrawn GLC1L -HGNC:33121 Entry Withdrawn DFNB69 -HGNC:33123 Entry Withdrawn DFNA55 -HGNC:33124 Merged/Split DFNA56 HGNC:5318|TNC|Approved -HGNC:33142 Merged/Split MIRN768 HGNC:32732|SNORD71|Approved -HGNC:33144 Entry Withdrawn MIRN801 -HGNC:33157 Merged/Split SAX2 HGNC:6317|KIF1C|Approved -HGNC:33161 Entry Withdrawn RP34 -HGNC:33162 Entry Withdrawn GLC1M -HGNC:33163 Entry Withdrawn GLC1N -HGNC:33170 Entry Withdrawn OPA6 -HGNC:33172 Entry Withdrawn DFNB71 -HGNC:33204 Entry Withdrawn ZNF705F -HGNC:33210 Merged/Split VN2R4P HGNC:33209|VN2R3P|Approved -HGNC:33211 Merged/Split VN2R5P HGNC:33209|VN2R3P|Approved -HGNC:33214 Merged/Split VN2R8P HGNC:33209|VN2R3P|Approved -HGNC:33239 Merged/Split DFNB72 HGNC:18183|GIPC3|Approved -HGNC:33240 Entry Withdrawn SPG36 -HGNC:33243 Entry Withdrawn MRT4 -HGNC:33244 Entry Withdrawn MACOM -HGNC:33266 Merged/Split ZNF816B HGNC:13158|ZNF83|Approved -HGNC:33269 Merged/Split CT45A4 HGNC:33268|CT45A3|Approved -HGNC:33306 Entry Withdrawn QQQQABCA1 -HGNC:33307 Entry Withdrawn QQQQT5aa -HGNC:33314 Entry Withdrawn POU5F1P8 -HGNC:33318 Entry Withdrawn TGIF2P3 -HGNC:33319 Entry Withdrawn TGIF2P4 -HGNC:33320 Entry Withdrawn TGIF2P2 -HGNC:33344 Entry Withdrawn SATB1P1 -HGNC:33355 Merged/Split ANE1 HGNC:9848|RANBP2|Approved -HGNC:33439 Merged/Split LGMD2L HGNC:27337|ANO5|Approved -HGNC:33443 Merged/Split LGMD1F HGNC:17103|TNPO3|Approved -HGNC:33444 Merged/Split SCA29 HGNC:6180|ITPR1|Approved -HGNC:33445 Entry Withdrawn SCA30 -HGNC:33452 Entry Withdrawn GBD2 -HGNC:33453 Entry Withdrawn GBD3 -HGNC:33472 Entry Withdrawn SPG37 -HGNC:33477 Entry Withdrawn FEB5 -HGNC:33478 Entry Withdrawn FEB6 -HGNC:33479 Entry Withdrawn FEB7 -HGNC:33483 Entry Withdrawn PSORS6 -HGNC:33485 Entry Withdrawn SPG38 -HGNC:33486 Merged/Split DFNB73 HGNC:16512|BSND|Approved -HGNC:33489 Merged/Split C11orf81 HGNC:3074|DUSP8|Approved -HGNC:33490 Merged/Split DFNB74 HGNC:27375|MSRB3|Approved -HGNC:33491 Entry Withdrawn DFNA57 -HGNC:33493 Merged/Split SLC9A3P4 HGNC:11074|SLC9A3P1|Approved -HGNC:33503 Entry Withdrawn DFNB75 -HGNC:33505 Entry Withdrawn OPA7 -HGNC:33506 Entry Withdrawn GAPDHL5 -HGNC:33538 Merged/Split ABHD17AP2 HGNC:28394|ABHD17AP1|Approved -HGNC:33546 Merged/Split SCDOS HGNC:10571|SCD|Approved -HGNC:33548 Merged/Split PCBP3-OT1 HGNC:8651|PCBP3|Approved -HGNC:33549 Merged/Split C19orf64 HGNC:18183|GIPC3|Approved -HGNC:33591 Merged/Split LCCS2 HGNC:3431|ERBB3|Approved -HGNC:33592 Merged/Split TMPRSS11E2 HGNC:24465|TMPRSS11E|Approved -HGNC:33633 Entry Withdrawn MIRN672 -HGNC:33637 Entry Withdrawn MIRN871 -HGNC:33638 Merged/Split MIR886 HGNC:37054|VTRNA2-1|Approved -HGNC:33640 Entry Withdrawn MIR220B -HGNC:33646 Entry Withdrawn MIRN674 -HGNC:33647 Entry Withdrawn MIR220C -HGNC:33657 Entry Withdrawn MIRN872 -HGNC:33673 Entry Withdrawn MIR923 -HGNC:33794 Entry Withdrawn C14orf181 -HGNC:33815 Merged/Split C7orf76 HGNC:10845|SEM1|Approved -HGNC:33870 Merged/Split TXNRD3NB HGNC:20667|TXNRD3|Approved -HGNC:33909 Merged/Split DFNB76 HGNC:26703|SYNE4|Approved -HGNC:33946 Merged/Split ZNF286C HGNC:33241|ZNF286B|Approved -HGNC:33994 Merged/Split PPIAL4B HGNC:24369|PPIAL4A|Approved -HGNC:34029 Entry Withdrawn DFNA58 -HGNC:34035 Merged/Split FAM74A5 HGNC:32029|FAM74A1|Approved -HGNC:34047 Merged/Split SSX10 HGNC:30641|SSXP4|Approved -HGNC:34062 Entry Withdrawn RNY4P12 -HGNC:34233 Entry Withdrawn HSR1 -HGNC:34331 Merged/Split ZNF834 HGNC:17218|ZNF355P|Approved -HGNC:34337 Merged/Split ZNF838 HGNC:29448|ZNF717|Approved -HGNC:34380 Merged/Split ZNF842 HGNC:28071|ZNF799|Approved -HGNC:34381 Merged/Split SPG42 HGNC:95|SLC33A1|Approved -HGNC:34382 Entry Withdrawn SPG41 -HGNC:34394 Merged/Split PRAMEF23 HGNC:27995|PRAMEF5|Approved -HGNC:34506 Merged/Split DOC2BL HGNC:2986|DOC2B|Approved -HGNC:34509 Merged/Split AREGB HGNC:651|AREG|Approved -HGNC:34510 Entry Withdrawn PARK12 -HGNC:34529 Merged/Split C3orf73 HGNC:25692|EFCC1|Approved -HGNC:34539 Entry Withdrawn ALS7 -HGNC:34540 Merged/Split ALS6 HGNC:4010|FUS|Approved -HGNC:34565 Entry Withdrawn TRNAQ4 -HGNC:34582 Merged/Split TRNAV13 HGNC:35098|TRK-CTT7-1|Approved -HGNC:34586 Entry Withdrawn TRNAN6 -HGNC:34636 Entry Withdrawn TRNAK10 -HGNC:34672 Entry Withdrawn TRNAR13 -HGNC:34709 Entry Withdrawn TRNAG14 -HGNC:34743 Entry Withdrawn TRNAI10 -HGNC:34804 Entry Withdrawn TRNAC17 -HGNC:34837 Entry Withdrawn TRNAI14 -HGNC:34843 Entry Withdrawn TRNAK25 -HGNC:34844 Entry Withdrawn TRNAL25 -HGNC:34872 Entry Withdrawn TRNAI16 -HGNC:34899 Entry Withdrawn TRNAI19 -HGNC:34968 Entry Withdrawn TRNAN31 -HGNC:34972 Entry Withdrawn TRNAN33 -HGNC:35002 Entry Withdrawn TRNAI27 -HGNC:35168 Entry Withdrawn DFNA59 -HGNC:35170 Entry Withdrawn DFNA60 -HGNC:35183 Entry Withdrawn DFNB78 -HGNC:35184 Merged/Split DFNB79 HGNC:26894|TPRN|Approved -HGNC:35185 Entry Withdrawn DFNB80 -HGNC:35192 Merged/Split DNM1P42 HGNC:35188|DNM1P38|Approved -HGNC:35198 Merged/Split SPG43 HGNC:25443|C19orf12|Approved -HGNC:35267 Merged/Split MIR1201 HGNC:33565|SNORD126|Approved -HGNC:35291 Entry Withdrawn MIR1300 -HGNC:35319 Entry Withdrawn MIR1254-1 -HGNC:35324 Merged/Split MIR1259 HGNC:32708|SNORD12|Approved -HGNC:35340 Entry Withdrawn MIR1273A -HGNC:35341 Entry Withdrawn MIR1274A -HGNC:35358 Entry Withdrawn MIR1274B -HGNC:35368 Entry Withdrawn MIR1280 -HGNC:35369 Entry Withdrawn MIR1308 -HGNC:35375 Entry Withdrawn MIR720 -HGNC:35390 Entry Withdrawn MIR1826 -HGNC:35416 Entry Withdrawn DYT17 -HGNC:35420 Entry Withdrawn DFNB81 -HGNC:35421 Entry Withdrawn SHFM5 -HGNC:35431 Merged/Split SPG45 HGNC:8022|NT5C2|Approved -HGNC:35432 Merged/Split SCA31 HGNC:24160|BEAN1|Approved -HGNC:35433 Entry Withdrawn MYP5 -HGNC:35434 Merged/Split MYP6 HGNC:10604|SCO2|Approved -HGNC:35435 Entry Withdrawn MYP7 -HGNC:35436 Entry Withdrawn MYP8 -HGNC:35437 Entry Withdrawn MYP9 -HGNC:35438 Entry Withdrawn MYP10 -HGNC:35439 Entry Withdrawn MYP14 -HGNC:35440 Entry Withdrawn MYP15 -HGNC:35441 Entry Withdrawn MYP16 -HGNC:35457 Entry Withdrawn OTSC9 -HGNC:35637 Merged/Split RPL7AP59 HGNC:32398|RPL7AP9|Approved -HGNC:36054 Merged/Split RPL29P10 HGNC:10331|RPL29|Approved -HGNC:36182 Merged/Split RPL22P15 HGNC:35603|RPL22P11|Approved -HGNC:36204 Merged/Split RPL39P42 HGNC:10350|RPL39|Approved -HGNC:36277 Merged/Split RPL36AP42 HGNC:10346|RPL36AL|Approved -HGNC:36294 Merged/Split RPL35AP25 HGNC:36045|RPL35AP23|Approved -HGNC:37014 Merged/Split RPL7AP68 HGNC:32433|RPL7AP10|Approved -HGNC:37047 Entry Withdrawn MYP17 -HGNC:37048 Entry Withdrawn MYP18 -HGNC:37050 Merged/Split DFNB82 HGNC:29501|GPSM2|Approved -HGNC:37051 Entry Withdrawn DFNB83 -HGNC:37052 Merged/Split DFNB84 HGNC:9679|PTPRQ|Approved -HGNC:37053 Entry Withdrawn DFNB85 -HGNC:37055 Entry Withdrawn HPP1 -HGNC:37056 Entry Withdrawn L1RE4 -HGNC:37062 Entry Withdrawn MIR1974 -HGNC:37063 Entry Withdrawn MIR1975 -HGNC:37065 Entry Withdrawn MIR1977 -HGNC:37066 Entry Withdrawn MIR1978 -HGNC:37067 Entry Withdrawn MIR1979 -HGNC:37072 Merged/Split GATSL1 HGNC:37073|CASTOR2|Approved -HGNC:37075 Merged/Split NBPF23P HGNC:31997|NBPF17P|Approved -HGNC:37076 Entry Withdrawn DFNA61 -HGNC:37077 Entry Withdrawn DFNA62 -HGNC:37080 Merged/Split SPG46 HGNC:18986|GBA2|Approved -HGNC:37092 Entry Withdrawn RP35 -HGNC:37139 Merged/Split KRTAP9L1 HGNC:18915|KRTAP9-7|Approved -HGNC:37140 Merged/Split KRTAP9L2 HGNC:18914|KRTAP9-6|Approved -HGNC:37141 Merged/Split KRTAP9L3 HGNC:18912|KRTAP9-1|Approved -HGNC:37158 Entry Withdrawn FCMTE1 -HGNC:37159 Entry Withdrawn FCMTE2 -HGNC:37160 Entry Withdrawn FCMTE3 -HGNC:37199 Merged/Split DYT10 HGNC:30500|PRRT2|Approved -HGNC:37224 Entry Withdrawn C14orf184 -HGNC:37251 Entry Withdrawn C2orf90 -HGNC:37289 Merged/Split DFNB86 HGNC:29203|TBC1D24|Approved -HGNC:37290 Entry Withdrawn DFNB87 -HGNC:37291 Merged/Split DFNB88 HGNC:26158|ELMOD3|Approved -HGNC:37370 Merged/Split VN1R50P HGNC:37369|VN1R49P|Approved -HGNC:37450 Entry Withdrawn PARK16 -HGNC:37475 Entry Withdrawn SCA32 -HGNC:37499 Merged/Split RNVU1-9 HGNC:37500|RNVU1-7|Approved -HGNC:37503 Merged/Split SCA34 HGNC:14415|ELOVL4|Approved -HGNC:37648 Merged/Split DFNB89 HGNC:6215|KARS1|Approved -HGNC:37649 Entry Withdrawn DFNB90 -HGNC:37650 Merged/Split USH1J HGNC:24579|CIB2|Approved -HGNC:37654 Merged/Split SPG47 HGNC:572|AP4B1|Approved -HGNC:37664 Merged/Split ATP5A1P6 HGNC:827|ATP5F1AP1|Approved -HGNC:37667 Merged/Split ATP5A1P9 HGNC:37665|ATP5F1AP7|Approved -HGNC:37669 Merged/Split UBE2Q2P3 HGNC:37440|UBE2Q2P2|Approved -HGNC:37674 Merged/Split DFNB91 HGNC:8950|SERPINB6|Approved -HGNC:37734 Entry Withdrawn GINGF4 -HGNC:37735 Entry Withdrawn FGS5 -HGNC:37738 Merged/Split CXYorf12 HGNC:7083|CD99P1|Approved -HGNC:37770 Entry Withdrawn DFNB92 -HGNC:37910 Merged/Split OFD1P19Y HGNC:23875|OFD1P3Y|Approved -HGNC:37996 Entry Withdrawn FAM201CP -HGNC:38000 Entry Withdrawn FAM202B -HGNC:38001 Entry Withdrawn NCRNA00270 -HGNC:38048 Merged/Split UQCRHP5 HGNC:31341|UQCRHP1|Approved -HGNC:38050 Merged/Split DFNB93 HGNC:1385|CABP2|Approved -HGNC:38080 Merged/Split CDY24P HGNC:38078|USP9YP6|Approved -HGNC:38095 Entry Withdrawn FAM202A -HGNC:38112 Entry Withdrawn RP52 -HGNC:38114 Merged/Split GOLGA6L15P HGNC:23958|GOLGA6L11P|Approved -HGNC:38177 Entry Withdrawn MIR3172 -HGNC:38210 Entry Withdrawn MIR3118-6 -HGNC:38240 Merged/Split MIR3130-3 HGNC:38275|MIR3130-1|Approved -HGNC:38344 Merged/Split MIR3130-4 HGNC:38363|MIR3130-2|Approved -HGNC:38351 Entry Withdrawn MIR3118-5 -HGNC:38375 Entry Withdrawn MIR1273D -HGNC:38387 Merged/Split MIR1270-2 HGNC:35338|MIR1270|Approved -HGNC:38417 Merged/Split PRYP7 HGNC:34018|PRYP1|Approved -HGNC:38505 Entry Withdrawn LGMD1H -HGNC:38511 Merged/Split FAM108A11P HGNC:28394|ABHD17AP1|Approved -HGNC:38512 Entry Withdrawn OTSC10 -HGNC:38525 Merged/Split TCEB1P25 HGNC:38160|ELOCP24|Approved -HGNC:38529 Entry Withdrawn LINC00266-2P -HGNC:38532 Entry Withdrawn FAM202C -HGNC:38533 Entry Withdrawn NCRNA00270B -HGNC:38543 Entry Withdrawn LINC00268 -HGNC:38544 Merged/Split DFNB94 HGNC:26274|NARS2|Approved -HGNC:38548 Entry Withdrawn LINC00273-2P -HGNC:38611 Merged/Split CSPG4P6Y HGNC:38111|CSPG4P3Y|Approved -HGNC:38612 Merged/Split CSPG4P7Y HGNC:38535|CSPG4P4Y|Approved -HGNC:38800 Merged/Split LINC00266-4P HGNC:51709|SEPTIN14P23|Approved -HGNC:38809 Entry Withdrawn LINC00283 -HGNC:38878 Entry Withdrawn DFNA63 -HGNC:38889 Entry Withdrawn MIR3656 -HGNC:38900 Merged/Split MIR3607 HGNC:50420|SNORD138|Approved -HGNC:38903 Merged/Split MIR3647 HGNC:33579|SNORD111B|Approved -HGNC:38908 Entry Withdrawn MIR3673 -HGNC:38927 Entry Withdrawn MIR3676 -HGNC:38946 Entry Withdrawn MIR3687-1 -HGNC:38968 Entry Withdrawn MIR3669 -HGNC:38971 Entry Withdrawn MIR3653 -HGNC:39145 Merged/Split MRT17 HGNC:17893|PGAP2|Approved -HGNC:39146 Merged/Split MRT5 HGNC:25994|NSUN2|Approved -HGNC:39147 Entry Withdrawn MRT8 -HGNC:39148 Entry Withdrawn MRT9 -HGNC:39149 Entry Withdrawn MRT10 -HGNC:39150 Entry Withdrawn MRT11 -HGNC:39151 Merged/Split MRT12 HGNC:10866|ST3GAL3|Approved -HGNC:39152 Merged/Split MRT18 HGNC:2372|MED23|Approved -HGNC:39153 Entry Withdrawn MRT19 -HGNC:39154 Entry Withdrawn MRT20 -HGNC:39155 Merged/Split MRT21 HGNC:17893|PGAP2|Approved -HGNC:39156 Merged/Split MRT22 HGNC:30242|TUSC3|Approved -HGNC:39157 Entry Withdrawn MRT23 -HGNC:39158 Entry Withdrawn MRT24 -HGNC:39159 Entry Withdrawn MRT25 -HGNC:39160 Entry Withdrawn MRT26 -HGNC:39161 Merged/Split MRT27 HGNC:30922|LINS1|Approved -HGNC:39162 Entry Withdrawn MRT28 -HGNC:39276 Entry Withdrawn C13orf41 -HGNC:39436 Entry Withdrawn DYT21 -HGNC:39437 Entry Withdrawn DFNB96 -HGNC:39512 Entry Withdrawn DYT22 -HGNC:39530 Merged/Split CNN2P5 HGNC:39529|CNN2P4|Approved -HGNC:39555 Merged/Split ZNF92P3 HGNC:32462|ZNF726|Approved -HGNC:39614 Merged/Split SNX18P6 HGNC:39613|SNX18P5|Approved -HGNC:39685 Entry Withdrawn UBAC2-IT1 -HGNC:39701 Merged/Split RBM22P8 HGNC:39704|RBM22P11|Approved -HGNC:39702 Merged/Split RBM22P9 HGNC:39700|RBM22P7|Approved -HGNC:39703 Merged/Split RBM22P10 HGNC:39699|RBM22P6|Approved -HGNC:39730 Entry Withdrawn FILIP1LP1 -HGNC:39750 Entry Withdrawn OPA8 -HGNC:39810 Entry Withdrawn FARP1-IT1 -HGNC:39817 Entry Withdrawn LINC00481 -HGNC:39885 Entry Withdrawn LMO7-IT1 -HGNC:39888 Entry Withdrawn DCUN1D2-AS1 -HGNC:39892 Entry Withdrawn CLYBL-IT1 -HGNC:39899 Entry Withdrawn ZDHHC20-AS1 -HGNC:39908 Entry Withdrawn NBEA-AS1 -HGNC:39911 Entry Withdrawn ZMYM5-AS1 -HGNC:39934 Entry Withdrawn UGGT2-IT1 -HGNC:39936 Entry Withdrawn ZMYM2-IT1 -HGNC:39939 Entry Withdrawn AKAP11-IT1 -HGNC:39992 Entry Withdrawn STARD10-AS1 -HGNC:40012 Entry Withdrawn ABHD11-AS2 -HGNC:40029 Merged/Split RPS17L HGNC:10397|RPS17|Approved -HGNC:40115 Entry Withdrawn CA5B-AS1 -HGNC:40184 Entry Withdrawn DMD-AS2 -HGNC:40322 Entry Withdrawn KCNQ5-AS2 -HGNC:40371 Merged/Split MEIS1-AS1 HGNC:40370|MEIS1-AS2|Approved -HGNC:40611 Entry Withdrawn VNN2-AS1 -HGNC:40838 Entry Withdrawn NICN1-AS1 -HGNC:40872 Entry Withdrawn STARD13-AS1 -HGNC:40874 Entry Withdrawn TBC1D4-AS1 -HGNC:40915 Entry Withdrawn PSPC1-AS1 -HGNC:40922 Entry Withdrawn WDFY2-AS1 -HGNC:41084 Entry Withdrawn SMIM12-AS1 -HGNC:41141 Merged/Split UBXN10-AS1 HGNC:9032|PLA2G2C|Approved -HGNC:41311 Merged/Split BRD2-IT1 HGNC:1103|BRD2|Approved -HGNC:41319 Entry Withdrawn LYST-IT1 -HGNC:41321 Entry Withdrawn CLTC-IT1 -HGNC:41332 Entry Withdrawn EYA3-IT1 -HGNC:41344 Entry Withdrawn HTR2C-IT1 -HGNC:41345 Entry Withdrawn HTR4-IT1 -HGNC:41356 Entry Withdrawn KPNA3-IT1 -HGNC:41372 Entry Withdrawn PROX1-IT1 -HGNC:41402 Merged/Split IMMP2L-IT1 HGNC:14598|IMMP2L|Approved -HGNC:41407 Entry Withdrawn ARID4B-IT1 -HGNC:41411 Entry Withdrawn OBSCN-IT2 -HGNC:41413 Entry Withdrawn ULK4-IT1 -HGNC:41434 Entry Withdrawn ZNF638-IT1 -HGNC:41435 Entry Withdrawn NTM-IT1 -HGNC:41436 Entry Withdrawn NTM-IT2 -HGNC:41441 Entry Withdrawn ERRFI1-IT1 -HGNC:41454 Entry Withdrawn SRGAP2-IT1 -HGNC:41506 Entry Withdrawn ANKRD33B-IT1 -HGNC:41535 Entry Withdrawn MIR4417 -HGNC:41551 Entry Withdrawn MIR4459 -HGNC:41577 Entry Withdrawn MIR4792 -HGNC:41611 Entry Withdrawn MIR5096 -HGNC:41656 Entry Withdrawn MIR4461 -HGNC:41684 Entry Withdrawn MIR1273G -HGNC:41724 Entry Withdrawn MIR4419B -HGNC:41733 Entry Withdrawn MIR1273F -HGNC:41770 Entry Withdrawn MIR1254-2 -HGNC:41828 Entry Withdrawn MIR4419A -HGNC:41849 Entry Withdrawn MIR5095 -HGNC:41869 Entry Withdrawn MIR4532 -HGNC:41914 Merged/Split PNMA6C HGNC:28248|PNMA6A|Approved -HGNC:41924 Merged/Split PNMA6D HGNC:26681|PNMA6B|Approved -HGNC:41941 Entry Withdrawn OBSCN-IT1 -HGNC:41965 Entry Withdrawn GLC1P -HGNC:41966 Entry Withdrawn GLC1Q -HGNC:42038 Entry Withdrawn LINC00329 -HGNC:42501 Merged/Split LINC00344 HGNC:42500|LINC00343|Approved -HGNC:42541 Entry Withdrawn RNU6-51P -HGNC:42608 Entry Withdrawn RNA5SP32 -HGNC:42629 Entry Withdrawn DMD-AS1 -HGNC:42675 Entry Withdrawn LINC00356 -HGNC:42677 Entry Withdrawn LINC00357 -HGNC:42681 Entry Withdrawn LINC00361 -HGNC:42694 Entry Withdrawn LINC00372 -HGNC:42702 Entry Withdrawn PSPC1-OT1 -HGNC:42731 Merged/Split LINC00401 HGNC:42710|LINC00383|Approved -HGNC:42746 Entry Withdrawn LINC00413 -HGNC:42747 Merged/Split LINC00414 HGNC:39689|ANKRD26P3|Approved -HGNC:42751 Entry Withdrawn LINC00417 -HGNC:42752 Entry Withdrawn LINC00418 -HGNC:42753 Entry Withdrawn LINC00419 -HGNC:42754 Entry Withdrawn LINC00420 -HGNC:42757 Merged/Split LINC00422 HGNC:43672|LINC00539|Approved -HGNC:42775 Entry Withdrawn LINC00438 -HGNC:42776 Entry Withdrawn LINC00439 -HGNC:42781 Merged/Split LINC00444 HGNC:11448|SUCLA2|Approved -HGNC:42801 Merged/Split LINC00453 HGNC:42800|LINC00452|Approved -HGNC:42806 Entry Withdrawn PARP4-AS1 -HGNC:42814 Merged/Split LINC00464 HGNC:19164|STARD13|Approved -HGNC:42835 Merged/Split RNA5SP58 HGNC:42834|RNA5SP57|Approved -HGNC:42858 Entry Withdrawn RNA5SP81 -HGNC:42932 Merged/Split SETP13 HGNC:31115|SETP3|Approved -HGNC:42938 Merged/Split SETP19 HGNC:19279|SETP1|Approved -HGNC:42990 Merged/Split PFN1P5 HGNC:42992|PFN1P4|Approved -HGNC:42993 Merged/Split PFN1P7 HGNC:42988|PFN1P6|Approved -HGNC:43213 Merged/Split RNA5SP313 HGNC:43212|RNA5SP312|Approved -HGNC:43214 Merged/Split RNA5SP314 HGNC:43211|RNA5SP311|Approved -HGNC:43216 Merged/Split RNA5SP316 HGNC:43210|RNA5SP310|Approved -HGNC:43281 Entry Withdrawn RNA5SP381 -HGNC:43298 Entry Withdrawn RNA5SP398 -HGNC:43432 Entry Withdrawn ITIH2-AS1 -HGNC:43529 Entry Withdrawn MIR5686 -HGNC:43556 Merged/Split LINC00505 HGNC:50679|FAAHP1|Approved -HGNC:43593 Entry Withdrawn NEGR1-AS1 -HGNC:43631 Entry Withdrawn HMBOX1-OT1 -HGNC:43634 Merged/Split NRG1-IT2 HGNC:7997|NRG1|Approved -HGNC:43724 Entry Withdrawn USH1K -HGNC:43726 Entry Withdrawn SCA37 -HGNC:43841 Entry Withdrawn ADAM12-OT1 -HGNC:43878 Entry Withdrawn RBM12B-AS2 -HGNC:43961 Merged/Split DFNB98 HGNC:1268|TSPEAR|Approved -HGNC:44139 Entry Withdrawn OCA5 -HGNC:44306 Entry Withdrawn LINC00650 -HGNC:44360 Merged/Split TNRC6C-AS1 HGNC:18021|TMC6|Approved -HGNC:44475 Entry Withdrawn UBTFL4 -HGNC:44625 Merged/Split SPG56 HGNC:20582|CYP2U1|Approved -HGNC:44650 Merged/Split DFNB100 HGNC:29035|PPIP5K2|Approved -HGNC:44704 Merged/Split USP6NL-IT1 HGNC:16858|USP6NL|Approved -HGNC:44882 Merged/Split ARL5B-AS1 HGNC:23529|NSUN6|Approved -HGNC:45002 Merged/Split DUSP8P4 HGNC:45001|DUSP8P2|Approved -HGNC:45005 Merged/Split FAM35EP HGNC:31425|SHLD2P1|Approved -HGNC:45074 Merged/Split KRT19P5 HGNC:33423|KRT19P2|Approved -HGNC:45077 Entry Withdrawn LINC00849 -HGNC:45126 Merged/Split RP66 HGNC:17146|ARL2BP|Approved -HGNC:45625 Entry Withdrawn RNU7-91P -HGNC:45632 Entry Withdrawn RNU7-98P -HGNC:45634 Merged/Split RNU7-100P HGNC:34108|RNU7-12P|Approved -HGNC:45635 Entry Withdrawn RNU7-101P -HGNC:45642 Entry Withdrawn RNU7-108P -HGNC:45643 Entry Withdrawn RNU7-109P -HGNC:45646 Merged/Split RNU7-112P HGNC:34132|RNU7-36P|Approved -HGNC:45648 Entry Withdrawn RNU7-114P -HGNC:45651 Entry Withdrawn RNU7-117P -HGNC:45652 Merged/Split RNU7-118P HGNC:34139|RNU7-43P|Approved -HGNC:45656 Entry Withdrawn RNU7-122P -HGNC:45665 Entry Withdrawn RNU7-131P -HGNC:45666 Merged/Split RNU7-132P HGNC:34100|RNU7-4P|Approved -HGNC:45669 Merged/Split RNU7-135P HGNC:45659|RNU7-125P|Approved -HGNC:45673 Merged/Split RNU7-139P HGNC:34104|RNU7-8P|Approved -HGNC:45676 Merged/Split RNU7-142P HGNC:34114|RNU7-18P|Approved -HGNC:45679 Entry Withdrawn RNU7-145P -HGNC:45680 Entry Withdrawn RNU7-146P -HGNC:45684 Entry Withdrawn RNU7-150P -HGNC:45692 Entry Withdrawn RNU7-158P -HGNC:45696 Entry Withdrawn RNU7-162P -HGNC:45697 Merged/Split RNU7-163P HGNC:34178|RNU7-82P|Approved -HGNC:45700 Entry Withdrawn RNU7-166P -HGNC:45702 Entry Withdrawn RNU7-168P -HGNC:45711 Entry Withdrawn RNU7-177P -HGNC:45712 Entry Withdrawn RNU7-178P -HGNC:45718 Entry Withdrawn RNU7-184P -HGNC:45723 Entry Withdrawn RNU7-189P -HGNC:45725 Entry Withdrawn RNU7-191P -HGNC:45732 Entry Withdrawn RNU7-198P -HGNC:45733 Entry Withdrawn RNU7-199P -HGNC:45765 Entry Withdrawn RN7SKP41 -HGNC:45808 Entry Withdrawn RN7SKP84 -HGNC:45862 Merged/Split RN7SKP138 HGNC:45910|RN7SKP186|Approved -HGNC:45925 Entry Withdrawn RN7SKP201 -HGNC:45939 Entry Withdrawn RN7SKP215 -HGNC:45998 Entry Withdrawn RN7SKP274 -HGNC:46025 Entry Withdrawn RN7SL9P -HGNC:46026 Entry Withdrawn RN7SL10P -HGNC:46029 Entry Withdrawn RN7SL13P -HGNC:46033 Entry Withdrawn RN7SL17P -HGNC:46037 Entry Withdrawn RN7SL21P -HGNC:46040 Entry Withdrawn RN7SL24P -HGNC:46043 Merged/Split RN7SL27P HGNC:10042|RN7SL7P|Approved -HGNC:46045 Entry Withdrawn RN7SL29P -HGNC:46047 Entry Withdrawn RN7SL31P -HGNC:46062 Entry Withdrawn RN7SL46P -HGNC:46069 Entry Withdrawn RN7SL53P -HGNC:46070 Entry Withdrawn RN7SL54P -HGNC:46072 Entry Withdrawn RN7SL56P -HGNC:46075 Entry Withdrawn RN7SL59P -HGNC:46077 Entry Withdrawn RN7SL61P -HGNC:46080 Entry Withdrawn RN7SL64P -HGNC:46087 Entry Withdrawn RN7SL71P -HGNC:46096 Entry Withdrawn RN7SL80P -HGNC:46100 Entry Withdrawn RN7SL84P -HGNC:46101 Entry Withdrawn RN7SL85P -HGNC:46102 Entry Withdrawn RN7SL86P -HGNC:46106 Entry Withdrawn RN7SL90P -HGNC:46110 Entry Withdrawn RN7SL94P -HGNC:46111 Entry Withdrawn RN7SL95P -HGNC:46115 Entry Withdrawn RN7SL99P -HGNC:46118 Entry Withdrawn RN7SL102P -HGNC:46119 Entry Withdrawn RN7SL103P -HGNC:46125 Entry Withdrawn RN7SL109P -HGNC:46128 Entry Withdrawn RN7SL112P -HGNC:46130 Entry Withdrawn RN7SL114P -HGNC:46131 Entry Withdrawn RN7SL115P -HGNC:46135 Entry Withdrawn RN7SL119P -HGNC:46145 Entry Withdrawn RN7SL129P -HGNC:46149 Entry Withdrawn RN7SL133P -HGNC:46152 Entry Withdrawn RN7SL136P -HGNC:46153 Entry Withdrawn RN7SL137P -HGNC:46155 Entry Withdrawn RN7SL139P -HGNC:46158 Entry Withdrawn RN7SL142P -HGNC:46173 Entry Withdrawn RN7SL157P -HGNC:46174 Entry Withdrawn RN7SL158P -HGNC:46177 Entry Withdrawn RN7SL161P -HGNC:46187 Entry Withdrawn RN7SL171P -HGNC:46191 Entry Withdrawn RN7SL175P -HGNC:46195 Entry Withdrawn RN7SL179P -HGNC:46210 Entry Withdrawn RN7SL194P -HGNC:46211 Entry Withdrawn RN7SL195P -HGNC:46222 Entry Withdrawn RN7SL206P -HGNC:46223 Entry Withdrawn RN7SL207P -HGNC:46228 Entry Withdrawn RN7SL212P -HGNC:46240 Entry Withdrawn RN7SL224P -HGNC:46242 Entry Withdrawn RN7SL226P -HGNC:46243 Entry Withdrawn RN7SL227P -HGNC:46248 Entry Withdrawn RN7SL232P -HGNC:46251 Entry Withdrawn RN7SL235P -HGNC:46259 Entry Withdrawn RN7SL243P -HGNC:46261 Entry Withdrawn RN7SL245P -HGNC:46263 Entry Withdrawn RN7SL247P -HGNC:46265 Merged/Split RN7SL249P HGNC:10040|RN7SL5P|Approved -HGNC:46272 Entry Withdrawn RN7SL256P -HGNC:46273 Merged/Split RN7SL257P HGNC:46487|RN7SL471P|Approved -HGNC:46280 Entry Withdrawn RN7SL264P -HGNC:46292 Entry Withdrawn RN7SL276P -HGNC:46297 Entry Withdrawn RN7SL281P -HGNC:46303 Entry Withdrawn RN7SL287P -HGNC:46305 Entry Withdrawn RN7SL289P -HGNC:46311 Entry Withdrawn RN7SL295P -HGNC:46314 Entry Withdrawn RN7SL298P -HGNC:46328 Entry Withdrawn RN7SL312P -HGNC:46331 Entry Withdrawn RN7SL315P -HGNC:46340 Entry Withdrawn RN7SL324P -HGNC:46361 Entry Withdrawn RN7SL345P -HGNC:46363 Entry Withdrawn RN7SL347P -HGNC:46364 Entry Withdrawn RN7SL348P -HGNC:46365 Entry Withdrawn RN7SL349P -HGNC:46371 Entry Withdrawn RN7SL355P -HGNC:46374 Entry Withdrawn RN7SL358P -HGNC:46376 Entry Withdrawn RN7SL360P -HGNC:46381 Entry Withdrawn RN7SL365P -HGNC:46383 Entry Withdrawn RN7SL367P -HGNC:46389 Entry Withdrawn RN7SL373P -HGNC:46390 Entry Withdrawn RN7SL374P -HGNC:46405 Entry Withdrawn RN7SL389P -HGNC:46422 Entry Withdrawn RN7SL406P -HGNC:46423 Entry Withdrawn RN7SL407P -HGNC:46425 Entry Withdrawn RN7SL409P -HGNC:46426 Entry Withdrawn RN7SL410P -HGNC:46428 Entry Withdrawn RN7SL412P -HGNC:46437 Entry Withdrawn RN7SL421P -HGNC:46443 Merged/Split RN7SL427P HGNC:10039|RN7SL4P|Approved -HGNC:46449 Merged/Split RN7SL433P HGNC:10043|RN7SL8P|Approved -HGNC:46452 Entry Withdrawn RN7SL436P -HGNC:46453 Entry Withdrawn RN7SL437P -HGNC:46455 Entry Withdrawn RN7SL439P -HGNC:46466 Entry Withdrawn RN7SL450P -HGNC:46474 Entry Withdrawn RN7SL458P -HGNC:46479 Entry Withdrawn RN7SL463P -HGNC:46483 Entry Withdrawn RN7SL467P -HGNC:46492 Entry Withdrawn RN7SL476P -HGNC:46501 Entry Withdrawn RN7SL485P -HGNC:46502 Entry Withdrawn RN7SL486P -HGNC:46506 Entry Withdrawn RN7SL490P -HGNC:46517 Entry Withdrawn RN7SL501P -HGNC:46522 Entry Withdrawn RN7SL506P -HGNC:46527 Entry Withdrawn RN7SL511P -HGNC:46528 Entry Withdrawn RN7SL512P -HGNC:46530 Entry Withdrawn RN7SL514P -HGNC:46538 Entry Withdrawn RN7SL522P -HGNC:46543 Merged/Split RN7SL527P HGNC:46264|RN7SL248P|Approved -HGNC:46544 Entry Withdrawn RN7SL528P -HGNC:46545 Entry Withdrawn RN7SL529P -HGNC:46548 Entry Withdrawn RN7SL532P -HGNC:46549 Entry Withdrawn RN7SL533P -HGNC:46550 Entry Withdrawn RN7SL534P -HGNC:46553 Entry Withdrawn RN7SL537P -HGNC:46556 Entry Withdrawn RN7SL540P -HGNC:46564 Entry Withdrawn RN7SL548P -HGNC:46566 Entry Withdrawn RN7SL550P -HGNC:46578 Entry Withdrawn RN7SL562P -HGNC:46588 Entry Withdrawn RN7SL572P -HGNC:46592 Entry Withdrawn RN7SL576P -HGNC:46595 Merged/Split RN7SL579P HGNC:46369|RN7SL353P|Approved -HGNC:46604 Entry Withdrawn RN7SL588P -HGNC:46606 Entry Withdrawn RN7SL590P -HGNC:46609 Entry Withdrawn RN7SL593P -HGNC:46611 Entry Withdrawn RN7SL595P -HGNC:46615 Entry Withdrawn RN7SL599P -HGNC:46619 Entry Withdrawn RN7SL603P -HGNC:46625 Entry Withdrawn RN7SL609P -HGNC:46627 Entry Withdrawn RN7SL611P -HGNC:46629 Entry Withdrawn RN7SL613P -HGNC:46642 Entry Withdrawn RN7SL626P -HGNC:46647 Merged/Split RN7SL631P HGNC:23135|RN7SL3|Approved -HGNC:46653 Entry Withdrawn RN7SL637P -HGNC:46655 Entry Withdrawn RN7SL639P -HGNC:46657 Entry Withdrawn RN7SL641P -HGNC:46658 Entry Withdrawn RN7SL642P -HGNC:46667 Entry Withdrawn RN7SL651P -HGNC:46677 Entry Withdrawn RN7SL661P -HGNC:46678 Entry Withdrawn RN7SL662P -HGNC:46685 Entry Withdrawn RN7SL669P -HGNC:46698 Entry Withdrawn RN7SL682P -HGNC:46702 Entry Withdrawn RN7SL686P -HGNC:46710 Merged/Split RN7SL694P HGNC:46290|RN7SL274P|Approved -HGNC:46711 Entry Withdrawn RN7SL695P -HGNC:46712 Entry Withdrawn RN7SL696P -HGNC:46715 Entry Withdrawn RN7SL699P -HGNC:46717 Entry Withdrawn RN7SL701P -HGNC:46723 Entry Withdrawn RN7SL707P -HGNC:46726 Entry Withdrawn RN7SL710P -HGNC:46737 Entry Withdrawn RN7SL721P -HGNC:46739 Entry Withdrawn RN7SL723P -HGNC:46745 Entry Withdrawn RN7SL729P -HGNC:46746 Entry Withdrawn RN7SL730P -HGNC:46755 Entry Withdrawn RN7SL739P -HGNC:46758 Entry Withdrawn RN7SL742P -HGNC:46762 Entry Withdrawn RN7SL746P -HGNC:46763 Entry Withdrawn RN7SL747P -HGNC:46771 Entry Withdrawn RN7SL755P -HGNC:46774 Entry Withdrawn RN7SL758P -HGNC:46781 Entry Withdrawn RN7SL765P -HGNC:46784 Entry Withdrawn RN7SL768P -HGNC:46786 Entry Withdrawn RN7SL770P -HGNC:46788 Entry Withdrawn RN7SL772P -HGNC:46789 Entry Withdrawn RN7SL773P -HGNC:46793 Entry Withdrawn RN7SL777P -HGNC:46795 Entry Withdrawn RN7SL779P -HGNC:46796 Entry Withdrawn RN7SL780P -HGNC:46797 Entry Withdrawn RN7SL781P -HGNC:46821 Entry Withdrawn RN7SL805P -HGNC:46832 Entry Withdrawn RN7SL816P -HGNC:46837 Entry Withdrawn RN7SL821P -HGNC:46845 Entry Withdrawn RN7SL829P -HGNC:46846 Entry Withdrawn RN7SL830P -HGNC:46855 Entry Withdrawn RN7SL839P -HGNC:46860 Entry Withdrawn RN7SL844P -HGNC:46864 Merged/Split RN7SL848P HGNC:10041|RN7SL6P|Approved -HGNC:46868 Entry Withdrawn RN7SL852P -HGNC:46871 Entry Withdrawn RN7SL855P -HGNC:46873 Entry Withdrawn RN7SL857P -HGNC:46874 Entry Withdrawn RN7SL858P -HGNC:46875 Entry Withdrawn RN7SL859P -HGNC:46882 Entry Withdrawn RN7SL866P -HGNC:46883 Entry Withdrawn RN7SL867P -HGNC:46887 Entry Withdrawn RN7SL871P -HGNC:46888 Entry Withdrawn RN7SL872P -HGNC:46955 Entry Withdrawn RNU4-19P -HGNC:47031 Entry Withdrawn RMRPP1 -HGNC:47032 Entry Withdrawn RMRPP2 -HGNC:47033 Entry Withdrawn RMRPP3 -HGNC:47034 Entry Withdrawn RMRPP4 -HGNC:47056 Entry Withdrawn RNU6-93P -HGNC:47059 Entry Withdrawn RNU6-96P -HGNC:47087 Entry Withdrawn RNU6-124P -HGNC:47097 Entry Withdrawn RNU6-134P -HGNC:47112 Entry Withdrawn RNU6-149P -HGNC:47149 Merged/Split RNU6-186P HGNC:48096|RNU6-1133P|Approved -HGNC:47228 Entry Withdrawn RNU6-265P -HGNC:47255 Merged/Split RNU6-292P HGNC:47508|RNU6-545P|Approved -HGNC:47268 Entry Withdrawn RNU6-305P -HGNC:47313 Entry Withdrawn RNU6-350P -HGNC:47320 Entry Withdrawn RNU6-357P -HGNC:47335 Entry Withdrawn RNU6-372P -HGNC:47348 Entry Withdrawn RNU6-385P -HGNC:47367 Entry Withdrawn RNU6-404P -HGNC:47386 Entry Withdrawn RNU6-423P -HGNC:47390 Entry Withdrawn RNU6-427P -HGNC:47422 Entry Withdrawn RNU6-459P -HGNC:47478 Entry Withdrawn RNU6-515P -HGNC:47531 Entry Withdrawn RNU6-568P -HGNC:47532 Entry Withdrawn RNU6-569P -HGNC:47548 Entry Withdrawn RNU6-585P -HGNC:47557 Entry Withdrawn RNU6-594P -HGNC:47634 Entry Withdrawn RNU6-671P -HGNC:47639 Entry Withdrawn RNU6-676P -HGNC:47646 Merged/Split RNU6-683P HGNC:47246|RNU6-283P|Approved -HGNC:47651 Entry Withdrawn RNU6-688P -HGNC:47654 Entry Withdrawn RNU6-691P -HGNC:47697 Entry Withdrawn RNU6-734P -HGNC:47699 Entry Withdrawn RNU6-736P -HGNC:47736 Entry Withdrawn RNU6-773P -HGNC:47742 Entry Withdrawn RNU6-779P -HGNC:47765 Entry Withdrawn RNU6-802P -HGNC:47777 Entry Withdrawn RNU6-814P -HGNC:47788 Merged/Split RNU6-825P HGNC:47566|RNU6-603P|Approved -HGNC:47809 Entry Withdrawn RNU6-846P -HGNC:47815 Entry Withdrawn RNU6-852P -HGNC:47831 Entry Withdrawn RNU6-868P -HGNC:47833 Entry Withdrawn RNU6-870P -HGNC:47835 Entry Withdrawn RNU6-872P -HGNC:47925 Entry Withdrawn RNU6-962P -HGNC:47926 Entry Withdrawn RNU6-963P -HGNC:47944 Entry Withdrawn RNU6-981P -HGNC:47965 Merged/Split RNU6-1002P HGNC:42566|RNU6-76P|Approved -HGNC:47993 Merged/Split RNU6-1030P HGNC:47813|RNU6-850P|Approved -HGNC:47996 Merged/Split RNU6-1033P HGNC:47176|RNU6-213P|Approved -HGNC:48021 Entry Withdrawn RNU6-1058P -HGNC:48026 Entry Withdrawn RNU6-1063P -HGNC:48033 Entry Withdrawn RNU6-1070P -HGNC:48105 Entry Withdrawn RNU6-1142P -HGNC:48129 Entry Withdrawn RNU6-1166P -HGNC:48136 Merged/Split RNU6-1173P HGNC:47893|RNU6-930P|Approved -HGNC:48145 Entry Withdrawn RNU6-1182P -HGNC:48148 Merged/Split RNU6-1185P HGNC:47734|RNU6-771P|Approved -HGNC:48165 Entry Withdrawn RNU6-1202P -HGNC:48184 Merged/Split RNU6-1221P HGNC:47243|RNU6-280P|Approved -HGNC:48216 Entry Withdrawn RNU6-1253P -HGNC:48222 Entry Withdrawn RNU6-1259P -HGNC:48258 Merged/Split RNU6-1295P HGNC:47281|RNU6-318P|Approved -HGNC:48265 Entry Withdrawn RNU6-1302P -HGNC:48310 Merged/Split LINC00875 HGNC:49454|LINC01138|Approved -HGNC:48313 Merged/Split RNVU1-5 HGNC:48312|RNVU1-4|Approved -HGNC:48316 Merged/Split RNVU1-10 HGNC:10133|RNVU1-1|Approved -HGNC:48317 Merged/Split RNVU1-12 HGNC:48311|RNVU1-3|Approved -HGNC:48318 Merged/Split RNVU1-13 HGNC:48324|RNVU1-19|Approved -HGNC:48321 Merged/Split RNVU1-16 HGNC:48320|RNVU1-15|Approved -HGNC:48347 Entry Withdrawn ERCC6-PGBD3 -HGNC:48359 Entry Withdrawn CSPG4P8 -HGNC:48402 Entry Withdrawn RNU1-60P -HGNC:48411 Entry Withdrawn RNU1-69P -HGNC:48477 Entry Withdrawn RNU1-135P -HGNC:48479 Merged/Split RNU1-137P HGNC:48471|RNU1-129P|Approved -HGNC:48560 Entry Withdrawn RNU2-67P -HGNC:48595 Merged/Split NKAIN3-IT1 HGNC:26829|NKAIN3|Approved -HGNC:48604 Entry Withdrawn LINC00914 -HGNC:48651 Merged/Split MED15P2 HGNC:44130|MED15P9|Approved -HGNC:48676 Entry Withdrawn CORD17 -HGNC:48714 Merged/Split EHMT1-IT1 HGNC:24650|EHMT1|Approved -HGNC:48720 Merged/Split FAM83H-AS1 HGNC:49576|IQANK1|Approved -HGNC:48729 Merged/Split LINC00969 HGNC:53743|MIR570HG|Approved -HGNC:48904 Merged/Split LINC01296 HGNC:32188|DUXAP9|Approved -HGNC:48905 Merged/Split CASC7 HGNC:3263|AGO2|Approved -HGNC:49074 Merged/Split LINC01059 HGNC:29214|GRAMD1B|Approved -HGNC:49087 Merged/Split SCA38 HGNC:21308|ELOVL5|Approved -HGNC:49114 Entry Withdrawn LINC01073 -HGNC:49126 Merged/Split WISP1-OT1 HGNC:12769|CCN4|Approved -HGNC:49238 Merged/Split LINC01112 HGNC:1399|CACNA2D1|Approved -HGNC:49387 Entry Withdrawn TBCE-AS1 -HGNC:49391 Merged/Split GOLGA6L20 HGNC:37229|GOLGA6L9|Approved -HGNC:49399 Merged/Split CCND2-AS2 HGNC:49398|CCND2-AS1|Approved -HGNC:49408 Merged/Split ADAMTS7P2 HGNC:49407|ADAMTS7P1|Approved -HGNC:49415 Merged/Split GOLGA6L18 HGNC:37228|GOLGA6L10|Approved -HGNC:49417 Merged/Split GOLGA6L21P HGNC:49414|GOLGA6L17P|Approved -HGNC:49427 Entry Withdrawn FAM231AP -HGNC:49506 Entry Withdrawn FAM231BP -HGNC:49507 Entry Withdrawn FAM231EP -HGNC:49508 Entry Withdrawn FAM231C -HGNC:49509 Entry Withdrawn FAM231D -HGNC:49649 Entry Withdrawn MCDR5 -HGNC:49652 Entry Withdrawn RP63 -HGNC:49802 Entry Withdrawn LINC01240 -HGNC:49837 Merged/Split LINC01245 HGNC:49476|CASC19|Approved -HGNC:49845 Merged/Split LINC01251 HGNC:49911|UBE2R2-AS1|Approved -HGNC:49995 Entry Withdrawn MIR7641-1 -HGNC:50011 Merged/Split MIR6089-2 HGNC:50179|MIR6089|Approved -HGNC:50045 Entry Withdrawn MIR6087 -HGNC:50152 Entry Withdrawn MIR6723 -HGNC:50175 Merged/Split MIR6077-2 HGNC:50025|MIR6077|Approved -HGNC:50214 Entry Withdrawn MIR7641-2 -HGNC:50218 Merged/Split MIR3690-2 HGNC:38967|MIR3690|Approved -HGNC:50246 Merged/Split MIR7112-2 HGNC:50149|MIR7112|Approved -HGNC:50262 Entry Withdrawn MIR8069-1 -HGNC:50335 Merged/Split LINC01279 HGNC:30649|CCDC80|Approved -HGNC:50372 Merged/Split FKBP4P3 HGNC:50376|FKBP4P7|Approved -HGNC:50373 Merged/Split FKBP4P4 HGNC:50375|FKBP4P6|Approved -HGNC:50374 Merged/Split FKBP4P5 HGNC:50375|FKBP4P6|Approved -HGNC:50384 Entry Withdrawn FAM27AP1 -HGNC:50543 Merged/Split LINC01336 HGNC:17973|GCNT4|Approved -HGNC:50622 Merged/Split SNHG23 HGNC:14574|MEG8|Approved -HGNC:50825 Merged/Split SNHG24 HGNC:14574|MEG8|Approved -HGNC:50833 Entry Withdrawn MIR1273E -HGNC:50835 Entry Withdrawn MIR3687-2 -HGNC:50880 Entry Withdrawn RNY4P32 -HGNC:50881 Entry Withdrawn RNY4P33 -HGNC:50883 Entry Withdrawn RNY4P35 -HGNC:51563 Merged/Split UPF3BP1 HGNC:20439|UPF3B|Approved -HGNC:51564 Merged/Split UPF3BP2 HGNC:20439|UPF3B|Approved -HGNC:51565 Merged/Split UPF3BP3 HGNC:20439|UPF3B|Approved -HGNC:51566 Entry Withdrawn UPF3BP4 -HGNC:51730 Merged/Split GTF2IP18 HGNC:34079|FAM157A|Approved -HGNC:51829 Entry Withdrawn CBSL -HGNC:51830 Entry Withdrawn U2AF1L5 -HGNC:51846 Entry Withdrawn SMIM11B -HGNC:51885 Merged/Split SNORD171 HGNC:50400|SNORD143|Approved -HGNC:51888 Merged/Split SNORD174 HGNC:50389|SNORD142|Approved -HGNC:51901 Entry Withdrawn CRYAA2 -HGNC:52280 Entry Withdrawn KCNE1B -HGNC:52389 Entry Withdrawn SIK1B -HGNC:52457 Entry Withdrawn LINC01669 -HGNC:52814 Entry Withdrawn LINC01984 -HGNC:53049 Merged/Split LINC02187 HGNC:52986|LINC02128|Approved -HGNC:53650 Entry Withdrawn SMIM34B -HGNC:53816 Entry Withdrawn GATD3B -HGNC:53888 Entry Withdrawn FAM243B -HGNC:54202 Entry Withdrawn C21orf86 -HGNC:54605 Entry Withdrawn TERF1P8 -HGNC:55015 Merged/Split NABP1-OT1 HGNC:26232|NABP1|Approved diff --git a/data/metadata.sssom.yml b/data/metadata.sssom.yml new file mode 100644 index 0000000..eda659b --- /dev/null +++ b/data/metadata.sssom.yml @@ -0,0 +1,9 @@ +mapping_set_id: http://example.org +license: http://w3id.org/sssom/license/unspecified +creator_id: https://orcid.org/0000-0002-2906-7319 +curie_map: + HGNC: "https://identifiers.org/hgnc:" + HGNC_symbol: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/ + OMIM: https://omim.org/entry/ + UMLS: http://linkedlifedata.com/resource/umls/id/ + ORPHA: http://www.orpha.net/ORDO/Orphanet_ diff --git a/data/mim2gene.tsv b/data/mim2gene.tsv deleted file mode 100644 index 0da7934..0000000 --- a/data/mim2gene.tsv +++ /dev/null @@ -1,27710 +0,0 @@ -MIM Number MIM Entry Type (see FAQ 1.3 at https://omim.org/help/faq) Entrez Gene ID (NCBI) Approved Gene Symbol (HGNC) Ensembl Gene ID (Ensembl) -100050 predominantly phenotypes -100070 phenotype 100329167 -100100 phenotype -100200 predominantly phenotypes -100300 phenotype -100500 moved/removed -100600 phenotype -100640 gene 216 ALDH1A1 ENSG00000165092 -100650 gene/phenotype 217 ALDH2 ENSG00000111275 -100660 gene 218 ALDH3A1 ENSG00000108602 -100670 gene 219 ALDH1B1 ENSG00000137124 -100675 predominantly phenotypes -100678 gene 39 ACAT2 ENSG00000120437 -100680 moved/removed -100690 gene 1134 CHRNA1 ENSG00000138435 -100700 predominantly phenotypes -100710 gene 1140 CHRNB1 ENSG00000170175 -100720 gene 1144 CHRND ENSG00000135902 -100725 gene 1145 CHRNE ENSG00000108556 -100730 gene 1146 CHRNG ENSG00000196811 -100735 moved/removed -100740 gene 43 ACHE ENSG00000087085 -100790 gene 429 ASCL1 ENSG00000139352 -100800 phenotype -100820 phenotype -100850 gene 50 ACO2 ENSG00000100412 -100880 gene 48 ACO1 ENSG00000122729 -100900 moved/removed -101000 phenotype -101120 predominantly phenotypes -101200 phenotype -101400 phenotype -101600 phenotype -101800 phenotype -101805 predominantly phenotypes -101840 predominantly phenotypes -101850 phenotype -101900 phenotype -102000 predominantly phenotypes -102100 phenotype -102150 phenotype -102200 phenotype -102300 phenotype 192142 -102350 phenotype -102370 phenotype -102400 predominantly phenotypes -102480 gene 49 ACR ENSG00000100312 -102490 moved/removed -102500 phenotype -102510 phenotype 414058 -102520 predominantly phenotypes -102525 gene 56 ACRV1 ENSG00000134940 -102530 phenotype -102540 gene 70 ACTC1 ENSG00000159251 -102545 gene 72 ACTG2 ENSG00000163017 -102550 moved/removed -102560 gene 71 ACTG1 ENSG00000184009 -102565 gene 2318 FLNC ENSG00000128591 -102570 moved/removed -102573 gene 88 ACTN2 ENSG00000077522 -102574 gene 89 ACTN3 ENSG00000248746 -102575 gene 87 ACTN1 ENSG00000072110 -102576 gene 90 ACVR1 ENSG00000115170 -102577 gene 5984 RFC4 ENSG00000163918 -102578 gene 5371 PML ENSG00000140464 -102579 gene 5981 RFC1 ENSG00000035928 -102581 gene 92 ACVR2A ENSG00000121989 -102582 gene 6774 STAT3 ENSG00000168610 -102590 moved/removed -102593 gene 313 AOAH ENSG00000136250 -102595 gene 98 ACYP2 ENSG00000170634 -102600 gene 353 APRT ENSG00000198931 -102610 gene 58 ACTA1 ENSG00000143632 -102620 gene 59 ACTA2 ENSG00000107796 -102630 gene 60 ACTB ENSG00000075624 -102640 moved/removed -102642 gene 6646 SOAT1 ENSG00000057252 -102645 gene 327 APEH ENSG00000164062 -102650 predominantly phenotypes -102660 predominantly phenotypes -102670 gene 8174 MADCAM1 ENSG00000099866 -102680 gene 118 ADD1 ENSG00000087274 -102681 gene 119 ADD2 ENSG00000075340 -102699 predominantly phenotypes 17 AAVS1 -102700 phenotype -102710 moved/removed -102720 gene 1803 DPP4 ENSG00000197635 -102730 predominantly phenotypes -102750 gene 132 ADK ENSG00000156110 -102770 gene 270 AMPD1 ENSG00000116748 -102771 gene 271 AMPD2 ENSG00000116337 -102772 gene 272 AMPD3 ENSG00000133805 -102775 gene 134 ADORA1 ENSG00000163485 -102776 gene 135 ADORA2A ENSG00000128271 -102777 moved/removed -102800 phenotype -102900 phenotype -102910 gene 506 ATP5F1B ENSG00000110955 -102920 moved/removed -102930 moved/removed -102940 moved/removed -102970 moved/removed -102980 gene 116 ADCYAP1 ENSG00000141433 -102981 gene 117 ADCYAP1R1 ENSG00000078549 -102990 moved/removed -103000 gene 203 AK1 ENSG00000106992 -103020 gene 204 AK2 ENSG00000004455 -103030 gene 205 AK4 ENSG00000162433 -103050 phenotype -103060 gene 159 ADSS2 ENSG00000035687 -103070 gene 114 ADCY8 ENSG00000155897 -103071 gene 108 ADCY2 ENSG00000078295 -103072 gene 107 ADCY1 ENSG00000164742 -103100 phenotype -103180 gene 375 ARF1 ENSG00000143761 -103188 gene 381 ARF5 ENSG00000004059 -103190 gene 377 ARF3 ENSG00000134287 -103195 gene 123 PLIN2 ENSG00000147872 -103200 phenotype -103220 gene 291 SLC25A4 ENSG00000151729 -103230 predominantly phenotypes -103260 gene 2230 FDX1 ENSG00000137714 -103270 gene 2232 FDXR ENSG00000161513 -103275 gene 133 ADM ENSG00000148926 -103280 gene 283120 H19 ENSG00000130600 -103285 phenotype -103300 phenotype -103320 gene 375790 AGRN ENSG00000188157 -103321 moved/removed -103390 gene 79026 AHNAK ENSG00000124942 -103400 predominantly phenotypes -103420 phenotype -103470 moved/removed -103500 phenotype -103580 phenotype -103581 moved/removed -103600 gene 213 ALB ENSG00000163631 -103700 gene 124 ADH1A ENSG00000187758 -103710 gene 128 ADH5 ENSG00000197894 -103720 gene 125 ADH1B ENSG00000196616 -103730 gene 126 ADH1C ENSG00000248144 -103735 gene 130 ADH6 ENSG00000172955 -103740 gene 127 ADH4 ENSG00000198099 -103780 phenotype -103800 moved/removed -103830 gene 10327 AKR1A1 ENSG00000117448 -103850 gene 226 ALDOA ENSG00000149925 -103870 gene 230 ALDOC ENSG00000109107 -103880 gene 231 AKR1B1 ENSG00000085662 -103890 moved/removed -103900 phenotype -103920 predominantly phenotypes -103950 gene 2 A2M ENSG00000175899 -104000 phenotype 100034700 -104100 phenotype -104110 predominantly phenotypes -104130 phenotype -104145 gene 173 AFM ENSG00000079557 -104150 gene 174 AFP ENSG00000081051 -104155 gene 463 ZFHX3 ENSG00000140836 -104160 gene 23193 GANAB ENSG00000089597 -104170 gene 4668 NAGA ENSG00000198951 -104175 gene 2681 GGTA1 ENSG00000204136 -104180 gene 2595 GANC ENSG00000214013 -104200 phenotype -104210 gene 150 ADRA2A ENSG00000150594 -104219 gene 146 ADRA1D ENSG00000171873 -104220 gene 147 ADRA1B ENSG00000170214 -104221 gene 148 ADRA1A ENSG00000120907 -104222 moved/removed -104225 gene 4043 LRPAP1 ENSG00000163956 -104230 gene 2526 FUT4 ENSG00000196371 -104240 gene 6484 ST3GAL4 ENSG00000110080 -104250 gene/phenotype 152 ADRA2C ENSG00000184160 -104260 gene 151 ADRA2B ENSG00000274286 -104290 phenotype -104300 phenotype -104310 phenotype -104311 gene 5663 PSEN1 ENSG00000080815 -104350 predominantly phenotypes -104400 predominantly phenotypes -104500 phenotype -104510 phenotype -104530 phenotype -104570 phenotype -104600 predominantly phenotypes -104610 gene 26 AOC1 ENSG00000002726 -104613 gene 908 CCT6A ENSG00000146731 -104614 gene 6519 SLC3A1 ENSG00000138079 -104615 gene 6541 SLC7A1 ENSG00000139514 -104620 gene 95 ACY1 ENSG00000243989 -104640 gene 374 AREG ENSG00000109321 -104650 gene 279 AMY2A ENSG00000243480 -104660 gene 280 AMY2B ENSG00000240038 -104700 gene 276 AMY1A ENSG00000237763 -104701 gene 277 AMY1B ENSG00000174876 -104702 gene 278 AMY1C ENSG00000187733 -104740 moved/removed -104750 gene 6288 SAA1 ENSG00000173432 -104751 gene 6289 SAA2 ENSG00000134339 -104752 gene 6291 SAA4 ENSG00000148965 -104760 gene 351 APP ENSG00000142192 -104770 gene 325 APCS ENSG00000132703 -104775 gene 333 APLP1 ENSG00000105290 -104776 gene 334 APLP2 ENSG00000084234 -105120 phenotype -105150 phenotype -105200 phenotype -105210 phenotype -105250 phenotype -105300 predominantly phenotypes -105400 phenotype -105500 phenotype -105550 phenotype -105563 predominantly phenotypes 100187749 -105565 predominantly phenotypes -105570 predominantly phenotypes -105580 predominantly phenotypes 8066 -105590 gene 238 ALK ENSG00000171094 -105600 phenotype -105650 phenotype -105800 phenotype 116833 -105805 predominantly phenotypes -105830 phenotype -105835 predominantly phenotypes -105850 gene 283 ANG ENSG00000214274 -106050 predominantly phenotypes -106070 phenotype -106100 phenotype -106150 gene/phenotype 183 AGT ENSG00000135744 -106160 moved/removed -106165 gene 185 AGTR1 ENSG00000144891 -106180 gene/phenotype 1636 ACE ENSG00000159640 -106190 phenotype -106195 gene 6508 SLC4A3 ENSG00000114923 -106200 moved/removed -106210 phenotype -106220 predominantly phenotypes -106230 phenotype -106240 predominantly phenotypes -106250 predominantly phenotypes 170 -106260 phenotype -106280 predominantly phenotypes -106300 phenotype -106400 predominantly phenotypes -106410 gene 287 ANK2 ENSG00000145362 -106490 gene 306 ANXA3 ENSG00000138772 -106491 gene 307 ANXA4 ENSG00000196975 -106500 predominantly phenotypes -106600 phenotype -106700 phenotype 6893 -106750 predominantly phenotypes -106900 predominantly phenotypes -106990 predominantly phenotypes -106995 phenotype -107000 phenotype -107100 phenotype -107200 phenotype 550625 -107240 moved/removed -107250 phenotype -107253 moved/removed -107254 predominantly phenotypes -107257 moved/removed -107260 predominantly phenotypes -107265 gene 930 CD19 ENSG00000177455 -107266 gene 933 CD22 ENSG00000012124 -107269 gene 960 CD44 ENSG00000026508 -107270 gene 952 CD38 ENSG00000004468 -107271 gene 966 CD59 ENSG00000085063 -107272 gene 971 CD72 ENSG00000137101 -107273 gene 969 CD69 ENSG00000110848 -107280 gene 12 SERPINA3 ENSG00000196136 -107285 gene 6590 SLPI ENSG00000124107 -107290 phenotype -107300 gene 462 SERPINC1 ENSG00000117601 -107310 gene 6548 SLC9A1 ENSG00000090020 -107320 predominantly phenotypes 100499532 -107323 gene 501 ALDH7A1 ENSG00000164904 -107325 gene 10849 POLR1G ENSG00000117877 -107400 gene 5265 SERPINA1 ENSG00000197249 -107410 predominantly phenotypes 390502 SERPINA2 ENSG00000258597 -107440 predominantly phenotypes -107450 gene 3454 IFNAR1 ENSG00000142166 -107460 moved/removed -107470 gene 3459 IFNGR1 ENSG00000027697 -107480 phenotype -107500 predominantly phenotypes -107550 predominantly phenotypes -107580 gene 7020 TFAP2A ENSG00000137203 -107600 phenotype -107601 moved/removed -107640 predominantly phenotypes -107650 phenotype -107670 gene/phenotype 336 APOA2 ENSG00000158874 -107680 gene 335 APOA1 ENSG00000118137 -107690 gene 337 APOA4 ENSG00000110244 -107700 predominantly phenotypes -107710 gene 341 APOC1 ENSG00000130208 -107720 gene 345 APOC3 ENSG00000110245 -107730 gene 338 APOB ENSG00000084674 -107740 gene 347 APOD ENSG00000189058 -107741 gene 348 APOE ENSG00000130203 -107748 gene 328 APEX1 ENSG00000100823 -107750 predominantly phenotypes -107760 gene 319 APOF ENSG00000175336 -107770 gene 4035 LRP1 ENSG00000123384 -107773 gene 7026 NR2F2 ENSG00000185551 -107776 gene 358 AQP1 ENSG00000240583 -107777 gene 359 AQP2 ENSG00000167580 -107800 predominantly phenotypes -107820 gene 5917 RARS1 ENSG00000113643 -107830 gene 384 ARG2 ENSG00000081181 -107840 moved/removed -107850 predominantly phenotypes -107900 predominantly phenotypes -107910 gene 1588 CYP19A1 ENSG00000137869 -107920 moved/removed -107930 gene 1644 DDC ENSG00000132437 -107940 gene 408 ARRB1 ENSG00000137486 -107941 gene 409 ARRB2 ENSG00000141480 -107950 moved/removed -107970 phenotype -108000 predominantly phenotypes -108010 phenotype -108050 predominantly phenotypes -108100 predominantly phenotypes -108110 moved/removed -108120 phenotype -108130 moved/removed -108140 moved/removed -108145 phenotype -108200 predominantly phenotypes -108300 phenotype -108320 predominantly phenotypes -108330 gene 1543 CYP1A1 ENSG00000140465 -108340 phenotype -108345 gene 9 NAT1 ENSG00000171428 -108355 gene 2885 GRB2 ENSG00000177885 -108360 gene 432 ASGR1 ENSG00000141505 -108361 gene 433 ASGR2 ENSG00000161944 -108370 gene 440 ASNS ENSG00000070669 -108390 phenotype -108400 moved/removed -108410 gene 4677 NARS1 ENSG00000134440 -108420 phenotype 100653377 -108450 predominantly phenotypes -108500 phenotype -108600 phenotype -108650 phenotype -108700 predominantly phenotypes -108720 phenotype -108721 phenotype -108725 phenotype 470 -108728 gene 47 ACLY ENSG00000131473 -108729 gene 509 ATP5F1C ENSG00000165629 -108730 gene 487 ATP2A1 ENSG00000196296 -108731 gene 490 ATP2B1 ENSG00000070961 -108732 gene 493 ATP2B4 ENSG00000058668 -108733 gene 491 ATP2B2 ENSG00000157087 -108740 gene 488 ATP2A2 ENSG00000174437 -108745 gene 527 ATP6V0C ENSG00000185883 -108746 gene 529 ATP6V1E1 ENSG00000131100 -108760 phenotype -108770 phenotype -108780 gene 4878 NPPA ENSG00000175206 -108800 phenotype 431 -108900 phenotype -108950 predominantly phenotypes -108960 gene 4881 NPR1 ENSG00000169418 -108961 gene 4882 NPR2 ENSG00000159899 -108962 gene 4883 NPR3 ENSG00000113389 -108970 moved/removed -108980 phenotype -108985 phenotype -108990 predominantly phenotypes -109000 phenotype -109050 predominantly phenotypes -109090 gene 6741 SSB ENSG00000138385 -109091 gene 811 CALR ENSG00000179218 -109092 gene 6737 TRIM21 ENSG00000132109 -109100 phenotype -109110 predominantly phenotypes -109120 predominantly phenotypes -109130 predominantly phenotypes -109135 gene 558 AXL ENSG00000167601 -109150 phenotype -109160 phenotype -109170 gene 7940 LST1 ENSG00000204482 -109180 predominantly phenotypes 628 -109190 gene 6510 SLC1A5 ENSG00000105281 -109195 gene 671 BPI ENSG00000101425 -109200 phenotype 100188784 -109270 gene/phenotype 6521 SLC4A1 ENSG00000004939 -109280 gene 6522 SLC4A2 ENSG00000164889 -109300 predominantly phenotypes -109350 phenotype 59330 -109390 moved/removed -109400 phenotype -109480 gene 682 BSG ENSG00000172270 -109500 phenotype -109530 gene 962 CD48 ENSG00000117091 -109535 gene 958 CD40 ENSG00000101017 -109540 predominantly phenotypes -109543 phenotype 8101 -109545 gene 608 TNFRSF17 ENSG00000048462 -109560 gene 602 BCL3 ENSG00000069399 -109565 gene 604 BCL6 ENSG00000113916 -109580 gene 694 BTG1 ENSG00000133639 -109600 predominantly phenotypes -109610 gene 706 TSPO ENSG00000100300 -109630 gene/phenotype 153 ADRB1 ENSG00000043591 -109635 gene 156 GRK2 ENSG00000173020 -109636 gene 157 GRK3 ENSG00000100077 -109640 predominantly phenotypes -109650 phenotype -109660 phenotype 8212 -109670 predominantly phenotypes 8213 -109675 gene 6480 ST6GAL1 ENSG00000073849 -109684 gene 3292 HSD17B1 ENSG00000108786 -109685 gene 3294 HSD17B2 ENSG00000086696 -109690 gene/phenotype 154 ADRB2 ENSG00000169252 -109691 gene 155 ADRB3 ENSG00000188778 -109700 gene 567 B2M ENSG00000166710 -109710 gene 568 B2MR -109715 gene 3283 HSD3B1 ENSG00000203857 -109720 phenotype -109730 phenotype -109740 predominantly phenotypes -109750 gene 644 BLVRA ENSG00000106605 -109760 gene 3350 HTR1A ENSG00000178394 -109770 gene 634 CEACAM1 ENSG00000079385 -109780 predominantly phenotypes -109800 phenotype -109820 predominantly phenotypes -109900 predominantly phenotypes -110000 predominantly phenotypes -110050 predominantly phenotypes -110100 phenotype -110150 predominantly phenotypes -110250 predominantly phenotypes -110300 gene 28 ABO ENSG00000175164 -110310 predominantly phenotypes -110350 phenotype 100187761 -110450 phenotype -110500 phenotype -110600 gene 420 ART4 ENSG00000111339 -110700 phenotype -110720 predominantly phenotypes -110750 gene 2995 GYPC ENSG00000136732 -110800 phenotype -110900 phenotype -111000 phenotype -111100 gene 2525 FUT3 ENSG00000171124 -111130 phenotype -111150 phenotype -111200 phenotype -111250 phenotype -111300 phenotype -111360 predominantly phenotypes -111380 phenotype -111400 phenotype -111410 moved/removed -111500 phenotype -111600 phenotype -111620 phenotype -111680 gene 6007 RHD ENSG00000187010 -111690 phenotype -111700 gene 6006 RHCE ENSG00000188672 -111730 gene 124872 B4GALNT2 ENSG00000167080 -111740 phenotype -111750 phenotype -111800 phenotype 6420 -112000 phenotype -112010 phenotype -112050 phenotype -112100 phenotype -112200 phenotype -112203 gene 941 CD80 ENSG00000121594 -112205 gene 973 CD79A ENSG00000105369 -112210 gene 931 MS4A1 ENSG00000156738 -112240 phenotype -112250 phenotype -112260 gene 632 BGLAP ENSG00000242252 -112261 gene 650 BMP2 ENSG00000125845 -112262 gene 652 BMP4 ENSG00000125378 -112263 gene 651 BMP3 ENSG00000152785 -112264 gene 649 BMP1 ENSG00000168487 -112265 gene 653 BMP5 ENSG00000112175 -112266 gene 654 BMP6 ENSG00000153162 -112267 gene 655 BMP7 ENSG00000101144 -112270 predominantly phenotypes -112300 phenotype -112310 phenotype -112350 phenotype -112370 predominantly phenotypes -112410 phenotype -112430 predominantly phenotypes -112440 phenotype -112450 predominantly phenotypes -112500 phenotype -112600 phenotype -112700 phenotype -112800 phenotype -112900 moved/removed -112910 predominantly phenotypes -113000 phenotype -113100 phenotype -113200 phenotype -113300 phenotype -113301 predominantly phenotypes -113310 predominantly phenotypes -113400 predominantly phenotypes -113450 predominantly phenotypes -113470 predominantly phenotypes -113475 predominantly phenotypes -113477 predominantly phenotypes -113480 predominantly phenotypes -113500 phenotype -113503 gene 624 BDKRB2 ENSG00000168398 -113505 gene 627 BDNF ENSG00000176697 -113508 gene 7533 YWHAH ENSG00000128245 -113510 gene -113520 gene 586 BCAT1 ENSG00000060982 -113530 gene 587 BCAT2 ENSG00000105552 -113600 predominantly phenotypes -113610 predominantly phenotypes -113620 phenotype -113630 moved/removed -113640 moved/removed -113650 phenotype -113660 moved/removed -113670 phenotype -113700 phenotype -113703 gene 6137 RPL13 ENSG00000167526 -113705 gene 672 BRCA1 ENSG00000012048 -113710 gene 7031 TFF1 ENSG00000160182 -113720 moved/removed -113721 predominantly phenotypes -113725 gene 5458 POU4F2 ENSG00000151615 -113730 gene 7350 UCP1 ENSG00000109424 -113750 phenotype -113800 phenotype -113810 gene 667 DST ENSG00000151914 -113811 gene 1308 COL17A1 ENSG00000065618 -113900 phenotype -113950 phenotype -113955 predominantly phenotypes -113960 predominantly phenotypes -113970 phenotype -113995 gene 728 C5AR1 ENSG00000197405 -114000 phenotype -114010 gene 790 CAD ENSG00000084774 -114019 gene 1013 CDH15 ENSG00000129910 -114020 gene 1000 CDH2 ENSG00000170558 -114021 gene 1001 CDH3 ENSG00000062038 -114025 gene 1496 CTNNA2 ENSG00000066032 -114030 predominantly phenotypes -114050 gene 793 CALB1 ENSG00000104327 -114051 gene 794 CALB2 ENSG00000172137 -114065 predominantly phenotypes -114070 gene 309 ANXA6 ENSG00000197043 -114078 gene 815 CAMK2A ENSG00000070808 -114080 gene 814 CAMK4 ENSG00000152495 -114085 gene 6281 S100A10 ENSG00000197747 -114090 gene 831 CAST ENSG00000153113 -114100 phenotype -114105 gene 5530 PPP3CA ENSG00000138814 -114106 gene 5532 PPP3CB ENSG00000107758 -114107 gene 5533 PPP3CC ENSG00000120910 -114110 gene 6277 S100A6 ENSG00000197956 -114120 moved/removed -114130 gene 796 CALCA ENSG00000110680 -114131 gene 799 CALCR ENSG00000004948 -114140 phenotype -114150 phenotype -114160 gene 797 CALCB ENSG00000175868 -114170 gene 826 CAPNS1 ENSG00000126247 -114180 gene 801 CALM1 ENSG00000198668 -114181 moved/removed -114182 gene 805 CALM2 ENSG00000143933 -114183 gene 808 CALM3 ENSG00000160014 -114184 gene 810 CALML3 ENSG00000178363 -114190 gene 10203 CALCRL ENSG00000064989 -114200 phenotype 100381210 -114204 gene 781 CACNA2D1 ENSG00000153956 -114205 gene 775 CACNA1C ENSG00000151067 -114206 gene 776 CACNA1D ENSG00000157388 -114207 gene 782 CACNB1 ENSG00000067191 -114208 gene 779 CACNA1S ENSG00000081248 -114209 gene 786 CACNG1 ENSG00000108878 -114210 gene 6275 S100A4 ENSG00000196154 -114212 gene 828 CAPS ENSG00000105519 -114213 gene 800 CALD1 ENSG00000122786 -114217 gene 821 CANX ENSG00000127022 -114220 gene 823 CAPN1 ENSG00000014216 -114230 gene 824 CAPN2 ENSG00000162909 -114240 gene 825 CAPN3 ENSG00000092529 -114250 gene 844 CASQ1 ENSG00000143318 -114251 gene 845 CASQ2 ENSG00000118729 -114260 moved/removed -114280 gene 1043 CD52 ENSG00000169442 -114290 phenotype -114300 phenotype -114350 gene 8021 NUP214 ENSG00000126883 -114400 moved/removed -114450 predominantly phenotypes 8105 -114480 phenotype -114500 phenotype -114550 phenotype -114580 phenotype 117084 -114600 phenotype -114610 gene 1268 CNR1 ENSG00000118432 -114620 predominantly phenotypes -114650 predominantly phenotypes -114700 predominantly phenotypes -114750 gene 761 CA3 ENSG00000164879 -114760 gene 762 CA4 ENSG00000167434 -114761 gene 763 CA5A ENSG00000174990 -114770 gene 766 CA7 ENSG00000168748 -114780 gene 765 CA6 ENSG00000131686 -114800 gene 759 CA1 ENSG00000133742 -114815 gene 767 CA8 ENSG00000178538 -114830 gene 873 CBR1 ENSG00000159228 -114835 gene 1066 CES1 ENSG00000198848 -114836 moved/removed -114840 gene 1056 CEL ENSG00000170835 -114841 moved/removed -114850 gene 1357 CPA1 ENSG00000091704 -114851 gene 1359 CPA3 ENSG00000163751 -114852 gene 1360 CPB1 ENSG00000153002 -114855 gene 1363 CPE ENSG00000109472 -114860 gene 1368 CPM ENSG00000135678 -114890 gene 1048 CEACAM5 ENSG00000105388 -114900 phenotype -115000 phenotype -115080 predominantly phenotypes -115150 phenotype -115195 phenotype -115196 phenotype -115197 phenotype -115198 moved/removed -115200 phenotype -115210 phenotype -115250 predominantly phenotypes -115300 phenotype -115310 phenotype -115400 predominantly phenotypes -115430 phenotype -115435 gene 1404 HAPLN1 ENSG00000145681 -115437 gene 4146 MATN1 ENSG00000162510 -115440 gene 1457 CSNK2A1 ENSG00000101266 -115441 gene 1460 CSNK2B ENSG00000204435 -115442 gene 1459 CSNK2A2 ENSG00000070770 -115450 gene 1446 CSN1S1 ENSG00000126545 -115460 gene 1447 CSN2 ENSG00000135222 -115470 phenotype -115500 gene 847 CAT ENSG00000121691 -115501 gene 7306 TYRP1 ENSG00000107165 -115645 predominantly phenotypes -115650 phenotype 1483 -115660 phenotype 878 -115665 phenotype 7792 -115700 phenotype -115800 phenotype 101867602 -115900 phenotype -116100 phenotype -116150 moved/removed -116200 phenotype -116300 phenotype -116400 phenotype -116600 phenotype -116700 phenotype -116790 gene/phenotype 1312 COMT ENSG00000093010 -116800 phenotype -116805 gene 1495 CTNNA1 ENSG00000044115 -116806 gene 1499 CTNNB1 ENSG00000168036 -116810 gene 1508 CTSB ENSG00000164733 -116820 gene 1512 CTSH ENSG00000103811 -116830 gene 1511 CTSG ENSG00000100448 -116831 gene 2999 GZMH ENSG00000100450 -116840 gene 1509 CTSD ENSG00000117984 -116845 gene 1520 CTSS ENSG00000163131 -116850 predominantly phenotypes -116860 phenotype -116870 predominantly phenotypes -116880 gene 1514 CTSL ENSG00000135047 -116890 gene 1510 CTSE ENSG00000196188 -116896 gene 1523 CUX1 ENSG00000257923 -116897 gene 1050 CEBPA ENSG00000245848 -116898 gene 1052 CEBPD ENSG00000221869 -116899 gene 1026 CDKN1A ENSG00000124762 -116900 gene 1163 CKS1B ENSG00000173207 -116901 gene 1164 CKS2 ENSG00000123975 -116920 phenotype -116930 gene 4684 NCAM1 ENSG00000149294 -116935 moved/removed -116940 gene 983 CDK1 ENSG00000170312 -116945 gene 4171 MCM2 ENSG00000073111 -116946 gene 996 CDC27 ENSG00000004897 -116947 gene 993 CDC25A ENSG00000164045 -116948 gene 997 CDC34 ENSG00000099804 -116949 gene 994 CDC25B ENSG00000101224 -116950 predominantly phenotypes 169 -116951 gene 728642 CDK11A ENSG00000008128 -116952 gene 998 CDC42 ENSG00000070831 -116953 gene 1017 CDK2 ENSG00000123374 -116954 moved/removed -116955 gene 7555 CNBP ENSG00000169714 -116957 gene 5933 RBL1 ENSG00000080839 -116960 gene 10934 MORF4 -117000 phenotype -117100 phenotype 100379198 -117139 gene 1058 CENPA ENSG00000115163 -117140 gene 1059 CENPB ENSG00000125817 -117141 gene 1060 CENPC ENSG00000145241 -117142 moved/removed -117143 gene 1062 CENPE ENSG00000138778 -117200 moved/removed -117210 phenotype -117300 phenotype -117340 gene 1039 CDR2 ENSG00000140743 -117350 moved/removed -117360 phenotype -117400 moved/removed -117550 phenotype -117600 predominantly phenotypes -117650 phenotype -117700 gene 1356 CP ENSG00000047457 -117800 phenotype -117850 predominantly phenotypes -117900 predominantly phenotypes -118000 predominantly phenotypes -118005 predominantly phenotypes -118100 phenotype -118150 moved/removed -118190 gene 3329 HSPD1 ENSG00000144381 -118200 phenotype -118210 phenotype -118220 phenotype -118230 predominantly phenotypes -118300 phenotype -118301 predominantly phenotypes -118330 predominantly phenotypes -118350 predominantly phenotypes -118400 phenotype -118420 phenotype -118423 gene 1123 CHN1 ENSG00000128656 -118425 gene 1180 CLCN1 ENSG00000188037 -118430 predominantly phenotypes -118440 gene 885 CCK ENSG00000187094 -118444 gene 886 CCKAR ENSG00000163394 -118445 gene 887 CCKBR ENSG00000110148 -118450 phenotype -118455 gene 1581 CYP7A1 ENSG00000167910 -118457 gene -118470 gene 1071 CETP ENSG00000087237 -118480 moved/removed -118485 gene 1583 CYP11A1 ENSG00000140459 -118490 gene 1103 CHAT ENSG00000070748 -118491 gene 1119 CHKA ENSG00000110721 -118493 gene 1129 CHRM2 ENSG00000181072 -118494 gene 1131 CHRM3 ENSG00000133019 -118495 gene 1132 CHRM4 ENSG00000180720 -118496 gene 1133 CHRM5 ENSG00000184984 -118502 gene 1135 CHRNA2 ENSG00000120903 -118503 gene 1136 CHRNA3 ENSG00000080644 -118504 gene 1137 CHRNA4 ENSG00000101204 -118505 gene 1138 CHRNA5 ENSG00000169684 -118507 gene 1141 CHRNB2 ENSG00000160716 -118508 gene 1142 CHRNB3 ENSG00000147432 -118509 gene 1143 CHRNB4 ENSG00000117971 -118510 gene 1128 CHRM1 ENSG00000168539 -118511 gene 1139 CHRNA7 ENSG00000175344 -118600 phenotype -118610 predominantly phenotypes -118650 predominantly phenotypes -118651 phenotype -118661 gene 1462 VCAN ENSG00000038427 -118670 predominantly phenotypes -118700 phenotype -118750 predominantly phenotypes -118800 phenotype -118820 gene 1443 CSH2 ENSG00000213218 -118825 gene 1122 CHML ENSG00000203668 -118830 phenotype -118840 phenotype -118850 gene 1081 CGA ENSG00000135346 -118860 gene 1082 CGB3 ENSG00000104827 -118865 predominantly phenotypes -118870 gene -118880 gene -118888 gene 1506 CTRL ENSG00000141086 -118890 gene 1504 CTRB1 ENSG00000168925 -118900 predominantly phenotypes -118910 gene 1113 CHGA ENSG00000100604 -118920 gene 1114 CHGB ENSG00000089199 -118930 gene 7857 SCG2 ENSG00000171951 -118938 gene 1215 CMA1 ENSG00000092009 -118940 moved/removed -118943 predominantly phenotypes 643160 CYMP ENSG00000240194 -118945 gene 1270 CNTF ENSG00000242689 -118946 gene 1271 CNTFR ENSG00000122756 -118950 gene 1431 CS ENSG00000062485 -118953 moved/removed -118955 gene 1213 CLTC ENSG00000141367 -118960 gene 1211 CLTA ENSG00000122705 -118970 gene 1212 CLTB ENSG00000175416 -118980 predominantly phenotypes -118990 gene 6744 ITPRID2 ENSG00000138434 -119000 phenotype -119100 phenotype 791121 -119300 phenotype -119500 phenotype -119530 phenotype 4963 -119540 phenotype -119550 phenotype -119570 predominantly phenotypes -119580 phenotype -119600 phenotype -119650 predominantly phenotypes -119800 phenotype -119900 phenotype -119915 phenotype -120000 predominantly phenotypes -120040 predominantly phenotypes -120050 phenotype 1526 -120070 gene 1285 COL4A3 ENSG00000169031 -120080 phenotype -120090 gene 1284 COL4A2 ENSG00000134871 -120100 phenotype -120105 gene 1208 CLPS ENSG00000137392 -120110 gene 1300 COL10A1 ENSG00000123500 -120120 gene 1294 COL7A1 ENSG00000114270 -120130 gene 1282 COL4A1 ENSG00000187498 -120131 gene 1286 COL4A4 ENSG00000081052 -120140 gene 1280 COL2A1 ENSG00000139219 -120150 gene 1277 COL1A1 ENSG00000108821 -120160 gene 1278 COL1A2 ENSG00000164692 -120165 gene 1310 COL19A1 ENSG00000082293 -120170 moved/removed -120180 gene 1281 COL3A1 ENSG00000168542 -120190 gene 1290 COL5A2 ENSG00000204262 -120200 phenotype -120210 gene 1297 COL9A1 ENSG00000112280 -120215 gene 1289 COL5A1 ENSG00000130635 -120216 gene 50509 COL5A3 ENSG00000080573 -120220 gene 1291 COL6A1 ENSG00000142156 -120240 gene 1292 COL6A2 ENSG00000142173 -120250 gene 1293 COL6A3 ENSG00000163359 -120251 gene 1295 COL8A1 ENSG00000144810 -120252 gene 1296 COL8A2 ENSG00000171812 -120260 gene 1298 COL9A2 ENSG00000049089 -120270 gene 1299 COL9A3 ENSG00000092758 -120280 gene 1301 COL11A1 ENSG00000060718 -120290 gene 1302 COL11A2 ENSG00000204248 -120300 phenotype -120310 moved/removed -120320 gene 1303 COL12A1 ENSG00000111799 -120321 moved/removed -120324 gene 7373 COL14A1 ENSG00000187955 -120325 gene 1306 COL15A1 ENSG00000204291 -120326 gene 1307 COL16A1 ENSG00000084636 -120327 moved/removed -120328 gene 80781 COL18A1 ENSG00000182871 -120330 phenotype -120340 gene 1279 COL1AR -120350 gene 1305 COL13A1 ENSG00000197467 -120353 gene 4312 MMP1 ENSG00000196611 -120355 gene 4317 MMP8 ENSG00000118113 -120360 gene 4313 MMP2 ENSG00000087245 -120361 gene 4318 MMP9 ENSG00000100985 -120400 predominantly phenotypes -120420 gene 1435 CSF1 ENSG00000184371 -120430 phenotype -120433 phenotype -120435 phenotype -120436 gene 4292 MLH1 ENSG00000076242 -120440 predominantly phenotypes -120450 phenotype -120460 moved/removed -120470 gene 1630 DCC ENSG00000187323 -120500 predominantly phenotypes -120502 phenotype 64585 -120520 gene 4311 MME ENSG00000196549 -120550 gene 712 C1QA ENSG00000173372 -120560 gene -120570 gene 713 C1QB ENSG00000173369 -120575 gene 714 C1QC ENSG00000159189 -120577 gene 22918 CD93 ENSG00000125810 -120580 gene 716 C1S ENSG00000182326 -120620 gene 1378 CR1 ENSG00000203710 -120650 gene 1380 CR2 ENSG00000117322 -120700 gene 718 C3 ENSG00000125730 -120790 phenotype -120810 gene 720 C4A ENSG00000244731 -120820 gene 721 C4B ENSG00000224389 -120830 gene 722 C4BPA ENSG00000123838 -120831 gene 725 C4BPB ENSG00000123843 -120832 moved/removed -120900 gene 727 C5 ENSG00000106804 -120920 gene 4179 CD46 ENSG00000117335 -120930 gene 733 C8G ENSG00000176919 -120940 gene 735 C9 ENSG00000113600 -120950 gene 731 C8A ENSG00000157131 -120960 gene 732 C8B ENSG00000021852 -120970 phenotype -120980 gene 3684 ITGAM ENSG00000169896 -121000 moved/removed -121009 gene 1490 CCN2 ENSG00000118523 -121010 gene 5473 PPBP ENSG00000163736 -121011 gene 2706 GJB2 ENSG00000165474 -121012 gene 2701 GJA4 ENSG00000187513 -121013 gene 2702 GJA5 ENSG00000265107 -121014 gene 2697 GJA1 ENSG00000152661 -121015 gene 2700 GJA3 ENSG00000121743 -121020 moved/removed -121050 phenotype -121070 predominantly phenotypes -121200 phenotype -121201 phenotype -121210 phenotype 2233 -121250 moved/removed -121270 predominantly phenotypes -121300 phenotype -121350 predominantly phenotypes -121360 gene 865 CBFB ENSG00000067955 -121390 phenotype -121400 phenotype 1255 -121450 predominantly phenotypes -121700 moved/removed -121800 phenotype -121820 phenotype -121850 phenotype -121900 phenotype -122000 phenotype -122100 phenotype -122200 phenotype -122400 phenotype -122430 predominantly phenotypes -122440 predominantly phenotypes -122450 phenotype -122455 predominantly phenotypes -122460 phenotype 3063 -122470 phenotype -122480 moved/removed -122500 gene 866 SERPINA6 ENSG00000170099 -122550 predominantly phenotypes -122559 gene 1393 CRHBP ENSG00000145708 -122560 gene 1392 CRH ENSG00000147571 -122561 gene 1394 CRHR1 ENSG00000120088 -122580 predominantly phenotypes -122600 phenotype -122700 phenotype -122720 gene/phenotype 1548 CYP2A6 ENSG00000255974 -122750 phenotype -122780 predominantly phenotypes -122850 predominantly phenotypes -122860 phenotype -122880 phenotype -122900 predominantly phenotypes -122920 moved/removed -123000 phenotype -123050 predominantly phenotypes -123100 phenotype -123101 gene 4488 MSX2 ENSG00000120149 -123150 phenotype -123155 phenotype -123260 gene 1401 CRP ENSG00000132693 -123270 predominantly phenotypes 1156 -123280 gene 1152 CKB ENSG00000166165 -123290 gene 1159 CKMT1B ENSG00000237289 -123295 gene 1160 CKMT2 ENSG00000131730 -123310 gene 1158 CKM ENSG00000104879 -123320 phenotype -123400 phenotype -123450 phenotype -123500 phenotype -123540 predominantly phenotypes -123550 phenotype -123555 moved/removed -123557 predominantly phenotypes -123560 predominantly phenotypes -123570 phenotype -123580 gene 1409 CRYAA ENSG00000160202 -123590 gene 1410 CRYAB ENSG00000109846 -123610 gene 1411 CRYBA1 ENSG00000108255 -123620 gene 1415 CRYBB2 ENSG00000244752 -123630 gene 1417 CRYBB3 ENSG00000100053 -123631 gene 1413 CRYBA4 ENSG00000196431 -123660 gene 1418 CRYGA ENSG00000168582 -123670 gene 1419 CRYGB ENSG00000182187 -123680 gene 1420 CRYGC ENSG00000163254 -123690 gene 1421 CRYGD ENSG00000118231 -123691 gene 1429 CRYZ ENSG00000116791 -123695 gene 5130 PCYT1A ENSG00000161217 -123700 phenotype -123710 moved/removed -123720 moved/removed -123730 gene 1427 CRYGS ENSG00000213139 -123740 gene 1428 CRYM ENSG00000103316 -123790 phenotype -123803 gene 466 ATF1 ENSG00000123268 -123805 gene 5139 PDE3A ENSG00000172572 -123810 gene 1385 CREB1 ENSG00000118260 -123811 gene 1386 ATF2 ENSG00000115966 -123812 gene 1390 CREM ENSG00000095794 -123825 gene 1259 CNGA1 ENSG00000198515 -123828 gene 1018 CDK3 ENSG00000250506 -123829 gene 1019 CDK4 ENSG00000135446 -123830 gene 1267 CNP ENSG00000173786 -123831 gene 1020 CDK5 ENSG00000164885 -123832 gene 1033 CDKN3 ENSG00000100526 -123833 gene 894 CCND2 ENSG00000118971 -123834 gene 896 CCND3 ENSG00000112576 -123835 gene 890 CCNA2 ENSG00000145386 -123836 gene 891 CCNB1 ENSG00000134057 -123837 gene 898 CCNE1 ENSG00000105173 -123838 gene 892 CCNC ENSG00000112237 -123839 moved/removed -123840 gene 5478 PPIA ENSG00000196262 -123841 gene 5479 PPIB ENSG00000166794 -123842 gene 5480 PPIC ENSG00000168938 -123850 moved/removed -123853 predominantly phenotypes -123855 gene 1469 CST1 ENSG00000170373 -123856 gene 1470 CST2 ENSG00000170369 -123857 gene 1472 CST4 ENSG00000101441 -123858 gene 1473 CST5 ENSG00000170367 -123859 gene 833 CARS1 ENSG00000110619 -123860 gene 1503 CTPS1 ENSG00000171793 -123864 gene 1327 COX4I1 ENSG00000131143 -123866 gene 1329 COX5B ENSG00000135940 -123870 gene 1351 COX8A ENSG00000176340 -123875 gene 1396 CRIP1 ENSG00000213145 -123876 gene 1465 CSRP1 ENSG00000159176 -123880 predominantly phenotypes -123885 gene 6279 S100A8 ENSG00000143546 -123886 gene 6280 S100A9 ENSG00000163220 -123889 gene 3588 IL10RB ENSG00000243646 -123890 gene 1493 CTLA4 ENSG00000163599 -123900 gene 7430 EZR ENSG00000092820 -123910 gene 3002 GZMB ENSG00000100453 -123920 gene 978 CDA ENSG00000158825 -123930 gene 1555 CYP2B6 ENSG00000197408 -123940 gene 3851 KRT4 ENSG00000170477 -123950 moved/removed -123960 moved/removed -123970 gene 54205 CYCS ENSG00000172115 -123980 gene 1537 CYC1 ENSG00000179091 -123995 gene 1346 COX7A1 ENSG00000161281 -123996 gene 1347 COX7A2 ENSG00000112695 -123997 predominantly phenotypes 1348 COX7A2P2 -124000 phenotype -124010 gene 1576 CYP3A4 ENSG00000160868 -124015 gene 5447 POR ENSG00000127948 -124020 gene 1557 CYP2C19 ENSG00000165841 -124030 gene 1565 CYP2D6 ENSG00000100197 -124040 gene 1571 CYP2E1 ENSG00000130649 -124050 gene 1610 DAO ENSG00000110887 -124060 gene/phenotype 1544 CYP1A2 ENSG00000140505 -124070 gene 1572 CYP2F1 ENSG00000197446 -124075 gene 1580 CYP4B1 ENSG00000142973 -124080 gene 1585 CYP11B2 ENSG00000179142 -124089 gene 1340 COX6B1 ENSG00000126267 -124090 gene 1345 COX6C ENSG00000164919 -124092 gene 3586 IL10 ENSG00000136634 -124095 gene 1445 CSK ENSG00000103653 -124097 gene 1628 DBP ENSG00000105516 -124100 predominantly phenotypes -124200 phenotype -124300 phenotype -124400 predominantly phenotypes -124450 gene 8528 DDO ENSG00000203797 -124480 phenotype -124490 predominantly phenotypes -124500 phenotype -124580 moved/removed -124700 phenotype -124800 moved/removed -124900 phenotype -124910 moved/removed -124950 predominantly phenotypes -125000 predominantly phenotypes -125050 predominantly phenotypes -125100 moved/removed -125220 gene 1667 DEFA1 ENSG00000206047 -125230 predominantly phenotypes -125240 gene 1604 CD55 ENSG00000196352 -125250 phenotype -125255 gene 1634 DCN ENSG00000011465 -125260 phenotype 7420 -125263 gene 6822 SULT2A1 ENSG00000105398 -125264 gene 7913 DEK ENSG00000124795 -125265 gene 7905 REEP5 ENSG00000129625 -125270 gene 210 ALAD ENSG00000148218 -125280 predominantly phenotypes -125290 gene 211 ALAS1 ENSG00000023330 -125300 predominantly phenotypes -125305 gene 2039 DMTN ENSG00000158856 -125310 phenotype -125320 predominantly phenotypes -125350 phenotype -125370 phenotype -125400 phenotype -125420 phenotype -125440 phenotype -125450 gene 1633 DCK ENSG00000156136 -125460 predominantly phenotypes -125480 phenotype 4095 -125485 gene 1834 DSPP ENSG00000152591 -125490 phenotype -125500 phenotype -125505 gene 1773 DNASE1 ENSG00000213918 -125510 moved/removed -125520 phenotype 387569 -125530 predominantly phenotypes -125540 phenotype -125550 phenotype -125570 predominantly phenotypes -125580 predominantly phenotypes -125590 phenotype -125595 phenotype -125597 gene 1805 DPT ENSG00000143196 -125600 predominantly phenotypes -125630 phenotype -125635 predominantly phenotypes -125640 phenotype -125643 gene 1823 DSC1 ENSG00000134765 -125645 gene 1824 DSC2 ENSG00000134755 -125647 gene 1832 DSP ENSG00000096696 -125650 moved/removed -125660 gene 1674 DES ENSG00000175084 -125670 gene 1828 DSG1 ENSG00000134760 -125671 gene 1829 DSG2 ENSG00000046604 -125700 phenotype -125800 phenotype -125850 phenotype -125851 phenotype -125852 phenotype -125853 phenotype -125855 gene 1606 DGKA ENSG00000065357 -125860 gene/phenotype 1728 NQO1 ENSG00000181019 -125870 moved/removed -125880 gene -125890 predominantly phenotypes -125900 predominantly phenotypes -125950 gene 1622 DBI ENSG00000155368 -126050 phenotype -126060 gene 1719 DHFR ENSG00000228716 -126061 moved/removed -126063 gene 1743 DLST ENSG00000119689 -126064 gene 1723 DHODH ENSG00000102967 -126065 gene 1591 CYP24A1 ENSG00000019186 -126070 phenotype -126090 gene 5092 PCBD1 ENSG00000166228 -126100 predominantly phenotypes -126110 gene 405 ARNT ENSG00000143437 -126140 moved/removed -126141 gene 1804 DPP6 ENSG00000130226 -126150 gene 1839 HBEGF ENSG00000113070 -126180 predominantly phenotypes -126190 predominantly phenotypes -126200 phenotype -126250 predominantly phenotypes -126255 gene 1746 DLX2 ENSG00000115844 -126300 phenotype -126320 predominantly phenotypes -126330 gene 1784 -126335 gene 1647 GADD45A ENSG00000116717 -126337 gene 1649 DDIT3 ENSG00000175197 -126340 gene 2068 ERCC2 ENSG00000104884 -126350 gene 1777 DNASE2 ENSG00000105612 -126370 predominantly phenotypes -126375 gene 1786 DNMT1 ENSG00000130816 -126380 gene 2067 ERCC1 ENSG00000012061 -126390 predominantly phenotypes -126391 gene 3978 LIG1 ENSG00000105486 -126410 predominantly phenotypes -126420 gene 7150 TOP1 ENSG00000198900 -126430 gene 7153 TOP2A ENSG00000131747 -126431 gene 7155 TOP2B ENSG00000077097 -126440 moved/removed -126448 moved/removed -126449 gene 1812 DRD1 ENSG00000184845 -126450 gene 1813 DRD2 ENSG00000149295 -126451 gene 1814 DRD3 ENSG00000151577 -126452 gene 1815 DRD4 ENSG00000069696 -126453 gene 1816 DRD5 ENSG00000169676 -126455 gene 6531 SLC6A3 ENSG00000142319 -126500 predominantly phenotypes -126550 phenotype -126600 phenotype -126650 gene 1811 SLC26A3 ENSG00000091138 -126660 gene 1627 DBN1 ENSG00000113758 -126700 phenotype -126800 phenotype 10674 -126830 moved/removed -126840 predominantly phenotypes -126850 phenotype -126900 phenotype 780895 -126950 predominantly phenotypes -127000 phenotype -127100 predominantly phenotypes -127200 predominantly phenotypes -127300 phenotype -127350 predominantly phenotypes -127400 phenotype -127500 phenotype -127550 phenotype -127600 phenotype 80870 -127700 phenotype -127750 phenotype -127800 predominantly phenotypes -127820 predominantly phenotypes -128000 phenotype -128100 phenotype -128101 phenotype -128200 phenotype -128230 phenotype -128235 phenotype -128239 gene 1605 DAG1 ENSG00000173402 -128240 gene 7402 UTRN ENSG00000152818 -128260 gene 6635 SNRPE ENSG00000182004 -128290 predominantly phenotypes -128300 predominantly phenotypes -128400 predominantly phenotypes -128500 predominantly phenotypes -128600 phenotype -128700 phenotype 404715 -128710 predominantly phenotypes -128800 predominantly phenotypes -128900 predominantly phenotypes -128950 predominantly phenotypes -128980 phenotype -128990 gene 1958 EGR1 ENSG00000120738 -128992 gene 1961 EGR4 ENSG00000135625 -129000 predominantly phenotypes -129010 gene 1959 EGR2 ENSG00000122877 -129100 predominantly phenotypes -129150 phenotype 1878 -129190 gene 4907 NT5E ENSG00000135318 -129200 phenotype -129400 phenotype -129490 phenotype -129500 phenotype -129510 predominantly phenotypes -129540 predominantly phenotypes -129550 predominantly phenotypes -129600 phenotype -129750 predominantly phenotypes -129810 predominantly phenotypes -129830 predominantly phenotypes -129840 predominantly phenotypes -129850 phenotype -129900 phenotype 1913 -129905 predominantly phenotypes -130000 phenotype -130010 phenotype -130020 phenotype -130050 phenotype -130060 phenotype -130070 phenotype -130080 phenotype -130090 predominantly phenotypes -130100 predominantly phenotypes -130120 gene 1990 CELA1 ENSG00000139610 -130130 gene 1991 ELANE ENSG00000197561 -130135 gene 1992 SERPINB1 ENSG00000021355 -130160 gene 2006 ELN ENSG00000049540 -130180 phenotype 1940 -130190 phenotype -130200 predominantly phenotypes -130300 predominantly phenotypes -130400 predominantly phenotypes -130410 gene 2109 ETFB ENSG00000105379 -130500 gene 2035 EPB41 ENSG00000159023 -130590 gene 1915 EEF1A1 ENSG00000156508 -130591 moved/removed -130592 gene 1936 EEF1D ENSG00000104529 -130593 gene 1937 EEF1G ENSG00000254772 -130600 phenotype -130610 gene 1938 EEF2 ENSG00000167658 -130620 gene 6208 RPS14 ENSG00000164587 -130650 phenotype -130660 gene 11117 EMILIN1 ENSG00000138080 -130700 predominantly phenotypes -130710 predominantly phenotypes -130720 phenotype -130900 phenotype -130950 predominantly phenotypes -131100 phenotype -131150 gene -131170 gene 2086 ERV3-1 ENSG00000213462 -131180 gene -131190 predominantly phenotypes -131195 gene 2022 ENG ENSG00000106991 -131200 phenotype 100188863 -131210 gene 6401 SELE ENSG00000007908 -131220 gene 2246 FGF1 ENSG00000113578 -131222 gene 1890 TYMP ENSG00000025708 -131230 gene 308 ANXA5 ENSG00000164111 -131235 gene 10945 KDELR1 ENSG00000105438 -131240 gene 1906 EDN1 ENSG00000078401 -131241 gene 1907 EDN2 ENSG00000127129 -131242 gene 1908 EDN3 ENSG00000124205 -131243 gene 1909 EDNRA ENSG00000151617 -131244 gene 1910 EDNRB ENSG00000136160 -131290 gene 2019 EN1 ENSG00000163064 -131300 phenotype -131310 gene 2020 EN2 ENSG00000164778 -131320 gene 2625 GATA3 ENSG00000107485 -131330 gene 5179 PENK ENSG00000181195 -131340 gene 5173 PDYN ENSG00000101327 -131360 gene 2026 ENO2 ENSG00000111674 -131370 gene 2027 ENO3 ENSG00000108515 -131375 predominantly phenotypes 387712 ENO4 ENSG00000188316 -131390 gene 4811 NID1 ENSG00000116962 -131398 gene 6037 RNASE3 ENSG00000169397 -131399 gene 8288 EPX ENSG00000121053 -131400 phenotype 7908 -131410 gene 6036 RNASE2 ENSG00000169385 -131430 predominantly phenotypes -131440 phenotype -131445 moved/removed -131450 predominantly phenotypes -131460 predominantly phenotypes -131500 phenotype -131530 gene 1950 EGF ENSG00000138798 -131550 gene 1956 EGFR ENSG00000146648 -131560 gene 2319 FLOT2 ENSG00000132589 -131600 predominantly phenotypes -131705 phenotype -131750 phenotype -131760 phenotype -131800 phenotype -131850 phenotype -131880 predominantly phenotypes -131900 phenotype -131950 phenotype -131960 phenotype -132000 phenotype -132090 predominantly phenotypes -132100 phenotype 100528023 -132300 predominantly phenotypes -132350 gene 2054 STX2 ENSG00000111450 -132400 phenotype -132450 phenotype -132500 predominantly phenotypes -132600 phenotype -132700 phenotype -132800 phenotype -132810 gene 2052 EPHX1 ENSG00000143819 -132811 gene 2053 EPHX2 ENSG00000120915 -132850 predominantly phenotypes 1888 EBVS1 -132860 moved/removed -132880 gene 2063 NR2F6 ENSG00000160113 -132890 gene 7025 NR2F1 ENSG00000175745 -132900 phenotype -132990 predominantly phenotypes -133000 phenotype -133020 phenotype -133090 gene 2040 STOM ENSG00000148175 -133100 phenotype -133170 gene 2056 EPO ENSG00000130427 -133171 gene 2057 EPOR ENSG00000187266 -133180 phenotype -133190 phenotype -133200 phenotype -133220 gene 2090 ESA4 -133230 gene -133239 phenotype -133240 predominantly phenotypes -133250 moved/removed -133260 predominantly phenotypes -133270 predominantly phenotypes -133280 gene 2098 ESD ENSG00000139684 -133290 gene 2097 ESB3 -133300 predominantly phenotypes -133420 moved/removed -133430 gene 2099 ESR1 ENSG00000091831 -133435 gene 862 RUNX1T1 ENSG00000079102 -133440 gene 1977 EIF4E ENSG00000151247 -133450 gene 2130 EWSR1 ENSG00000182944 -133500 phenotype -133510 gene 2071 ERCC3 ENSG00000163161 -133520 gene 2072 ERCC4 ENSG00000175595 -133530 gene 2073 ERCC5 ENSG00000134899 -133535 moved/removed -133540 phenotype -133550 gene 6505 SLC1A1 ENSG00000106688 -133600 predominantly phenotypes -133690 predominantly phenotypes -133700 phenotype -133701 phenotype -133705 predominantly phenotypes -133710 moved/removed -133730 moved/removed -133740 moved/removed -133750 predominantly phenotypes -133780 phenotype -133800 predominantly phenotypes -133900 predominantly phenotypes -134000 predominantly phenotypes -134100 moved/removed -134200 phenotype -134300 predominantly phenotypes -134350 gene 1675 CFD ENSG00000197766 -134370 gene 3075 CFH ENSG00000000971 -134371 gene 3078 CFHR1 ENSG00000244414 -134390 gene 2152 F3 ENSG00000117525 -134400 predominantly phenotypes -134430 predominantly phenotypes -134450 moved/removed -134500 predominantly phenotypes -134510 predominantly phenotypes -134520 predominantly phenotypes -134530 moved/removed -134540 predominantly phenotypes -134570 gene 2162 F13A1 ENSG00000124491 -134580 gene 2165 F13B ENSG00000143278 -134600 phenotype -134610 phenotype -134629 gene 2224 FDPS ENSG00000160752 -134631 moved/removed -134632 moved/removed -134633 moved/removed -134634 moved/removed -134635 gene 2339 FNTA ENSG00000168522 -134636 gene 2342 FNTB ENSG00000257365 -134637 gene 355 FAS ENSG00000026103 -134638 gene 356 FASLG ENSG00000117560 -134640 gene 2169 FABP2 ENSG00000145384 -134650 gene 2168 FABP1 ENSG00000163586 -134651 gene 2170 FABP3 ENSG00000121769 -134660 gene 2950 GSTP1 ENSG00000084207 -134690 gene 2197 FAU ENSG00000149806 -134700 moved/removed -134720 predominantly phenotypes 7892 -134750 predominantly phenotypes -134770 gene 2495 FTH1 ENSG00000167996 -134780 predominantly phenotypes -134790 gene 2512 FTL ENSG00000087086 -134795 gene 2091 FBL ENSG00000105202 -134797 gene 2200 FBN1 ENSG00000166147 -134820 gene 2243 FGA ENSG00000171560 -134830 gene 2244 FGB ENSG00000171564 -134850 gene 2266 FGG ENSG00000171557 -134900 predominantly phenotypes -134920 gene 2247 FGF2 ENSG00000138685 -134921 gene 2251 FGF6 ENSG00000111241 -134934 gene 2261 FGFR3 ENSG00000068078 -134935 gene 2264 FGFR4 ENSG00000160867 -135000 moved/removed -135100 phenotype -135150 phenotype -135290 phenotype -135300 phenotype -135400 phenotype -135500 phenotype -135550 phenotype -135580 predominantly phenotypes -135600 gene 2335 FN1 ENSG00000115414 -135610 predominantly phenotypes -135620 gene 3678 ITGA5 ENSG00000161638 -135630 gene 3688 ITGB1 ENSG00000150093 -135631 moved/removed -135700 phenotype -135750 phenotype -135800 predominantly phenotypes -135820 gene 2192 FBLN1 ENSG00000077942 -135821 gene 2199 FBLN2 ENSG00000163520 -135900 phenotype -135940 gene 2312 FLG ENSG00000143631 -135950 predominantly phenotypes -136000 phenotype -136100 predominantly phenotypes -136120 phenotype -136130 gene 2326 FMO1 ENSG00000010932 -136131 gene 2329 FMO4 ENSG00000076258 -136132 gene 2328 FMO3 ENSG00000007933 -136140 phenotype -136150 predominantly phenotypes -136200 predominantly phenotypes -136300 phenotype -136350 gene 2260 FGFR1 ENSG00000077782 -136351 gene 2322 FLT3 ENSG00000122025 -136352 gene 2324 FLT4 ENSG00000037280 -136400 predominantly phenotypes -136425 gene 2350 FOLR2 ENSG00000165457 -136430 gene 2348 FOLR1 ENSG00000110195 -136435 gene 2492 FSHR ENSG00000170820 -136440 gene 2531 KDSR ENSG00000119537 -136470 gene 10468 FST ENSG00000134363 -136480 predominantly phenotypes -136490 moved/removed -136500 phenotype -136510 gene 2356 FPGS ENSG00000136877 -136515 gene 8061 FOSL1 ENSG00000175592 -136520 phenotype -136530 gene 2488 FSHB ENSG00000131808 -136533 gene 2308 FOXO1 ENSG00000150907 -136535 gene 342184 FMN1 ENSG00000248905 -136537 gene 2357 FPR1 ENSG00000171051 -136538 gene 2358 FPR2 ENSG00000171049 -136539 gene 2359 FPR3 ENSG00000187474 -136540 phenotype -136550 phenotype -136560 moved/removed -136570 phenotype -136580 phenotype -136590 phenotype -136600 predominantly phenotypes -136610 moved/removed -136620 phenotype -136630 phenotype -136640 phenotype -136650 moved/removed -136660 phenotype -136670 moved/removed -136680 phenotype -136750 moved/removed -136760 phenotype -136770 moved/removed -136800 phenotype -136820 gene 2519 FUCA2 ENSG00000001036 -136830 predominantly phenotypes -136835 gene 2527 FUT5 ENSG00000130383 -136836 gene 2528 FUT6 ENSG00000156413 -136840 gene -136850 gene 2271 FH ENSG00000091483 -136870 gene -136880 phenotype -136890 gene -136900 phenotype -136950 gene 5045 FURIN ENSG00000140564 -137000 predominantly phenotypes -137010 gene 7959 -137020 gene 7264 GFUS ENSG00000104522 -137025 gene 2534 FYN ENSG00000010810 -137026 gene 2868 GRK4 ENSG00000125388 -137028 gene 2585 GALK2 ENSG00000156958 -137030 gene 130589 GALM ENSG00000143891 -137033 moved/removed -137035 gene 51083 GAL ENSG00000069482 -137040 predominantly phenotypes -137050 predominantly phenotypes -137060 gene 2683 B4GALT1 ENSG00000086062 -137061 moved/removed -137070 gene 2521 FUS ENSG00000089280 -137100 phenotype 10986 -137130 predominantly phenotypes -137140 gene 2555 GABRA2 ENSG00000151834 -137141 gene 2557 GABRA4 ENSG00000109158 -137142 gene 2558 GABRA5 ENSG00000186297 -137143 gene 2559 GABRA6 ENSG00000145863 -137150 gene 18 ABAT ENSG00000183044 -137160 gene 2554 GABRA1 ENSG00000022355 -137161 gene 2569 GABRR1 ENSG00000146276 -137162 gene 2570 GABRR2 ENSG00000111886 -137163 gene 2563 GABRD ENSG00000187730 -137164 gene 2566 GABRG2 ENSG00000113327 -137165 gene 6529 SLC6A1 ENSG00000157103 -137166 gene 2565 GABRG1 ENSG00000163285 -137167 gene 2677 GGCX ENSG00000115486 -137168 gene 2687 GGT5 ENSG00000099998 -137170 gene 79017 GGCT ENSG00000006625 -137181 gene 728441 GGT2P -137190 gene 2560 GABRB1 ENSG00000163288 -137192 gene 2562 GABRB3 ENSG00000166206 -137200 phenotype -137207 gene 2615 LRRC32 ENSG00000137507 -137210 predominantly phenotypes -137215 phenotype -137216 gene 495 ATP4A ENSG00000105675 -137217 gene 496 ATP4B ENSG00000186009 -137220 predominantly phenotypes -137240 gene 2695 GIP ENSG00000159224 -137241 gene 2696 GIPR ENSG00000010310 -137245 phenotype -137250 gene 2520 GAST ENSG00000184502 -137260 gene 2922 GRP ENSG00000134443 -137270 predominantly phenotypes -137280 predominantly phenotypes -137290 gene 4070 TACSTD2 ENSG00000184292 -137295 gene 2624 GATA2 ENSG00000179348 -137350 gene 2934 GSN ENSG00000148180 -137357 moved/removed -137360 phenotype -137370 predominantly phenotypes -137400 predominantly phenotypes -137440 phenotype -137500 phenotype -137550 phenotype -137560 moved/removed -137570 gene 6574 SLC20A1 ENSG00000144136 -137575 phenotype -137580 phenotype -137600 phenotype -137700 predominantly phenotypes -137750 phenotype -137760 phenotype -137763 predominantly phenotypes -137765 moved/removed -137780 gene 2670 GFAP ENSG00000131095 -137800 phenotype -137900 predominantly phenotypes -137920 phenotype -137940 phenotype -137950 phenotype 100689213 -137960 gene 4358 MPV17 ENSG00000115204 -138000 phenotype -138030 gene 2641 GCG ENSG00000115263 -138032 gene 2740 GLP1R ENSG00000112164 -138033 gene 2642 GCGR ENSG00000215644 -138035 moved/removed -138040 gene 2908 NR3C1 ENSG00000113580 -138060 predominantly phenotypes 2910 NR3C1P1 ENSG00000276393 -138070 predominantly phenotypes -138079 gene 2645 GCK ENSG00000106633 -138090 gene 9563 H6PD ENSG00000049239 -138100 moved/removed -138110 predominantly phenotypes -138120 gene 3309 HSPA5 ENSG00000044574 -138130 gene 2746 GLUD1 ENSG00000148672 -138140 gene 6513 SLC2A1 ENSG00000117394 -138150 gene 2806 GOT2 ENSG00000125166 -138160 gene 6514 SLC2A2 ENSG00000163581 -138170 gene 6515 SLC2A3 ENSG00000059804 -138180 gene 2805 GOT1 ENSG00000120053 -138190 gene 6517 SLC2A4 ENSG00000181856 -138200 gene 2875 GPT ENSG00000167701 -138210 gene 84706 GPT2 ENSG00000166123 -138220 moved/removed -138230 gene 6518 SLC2A5 ENSG00000142583 -138240 moved/removed -138243 gene 2899 GRIK3 ENSG00000163873 -138244 gene 2898 GRIK2 ENSG00000164418 -138245 gene 2897 GRIK1 ENSG00000171189 -138246 gene 2893 GRIA4 ENSG00000152578 -138247 gene 2891 GRIA2 ENSG00000120251 -138248 gene 2890 GRIA1 ENSG00000155511 -138249 gene 2902 GRIN1 ENSG00000176884 -138250 gene 5832 ALDH18A1 ENSG00000059573 -138251 gene 2907 GRINA ENSG00000178719 -138252 gene 2904 GRIN2B ENSG00000273079 -138253 gene 2903 GRIN2A ENSG00000183454 -138254 gene 2905 GRIN2C ENSG00000161509 -138270 moved/removed -138275 gene 2572 GAD2 ENSG00000136750 -138276 moved/removed -138277 predominantly phenotypes -138280 gene 2744 GLS ENSG00000115419 -138290 gene 2752 GLUL ENSG00000135821 -138292 gene 2673 GFPT1 ENSG00000198380 -138295 gene 2058 EPRS1 ENSG00000136628 -138297 gene 2028 ENPEP ENSG00000138792 -138300 gene 2936 GSR ENSG00000104687 -138319 gene 2877 GPX2 ENSG00000176153 -138320 gene 2876 GPX1 ENSG00000233276 -138321 gene 2878 GPX3 ENSG00000211445 -138322 gene 2879 GPX4 ENSG00000167468 -138330 gene 4257 MGST1 ENSG00000008394 -138333 gene 2948 GSTM4 ENSG00000168765 -138335 moved/removed -138340 predominantly phenotypes -138350 gene 2944 GSTM1 ENSG00000134184 -138359 gene 2938 GSTA1 ENSG00000243955 -138360 gene 2939 GSTA2 ENSG00000244067 -138370 moved/removed -138380 gene 2946 GSTM2 ENSG00000213366 -138385 gene 2949 GSTM5 ENSG00000134201 -138390 gene 2947 GSTM3 ENSG00000134202 -138391 moved/removed -138400 gene 2597 GAPDH ENSG00000111640 -138420 gene 2819 GPD1 ENSG00000167588 -138430 gene 2820 GPD2 ENSG00000115159 -138440 gene 2618 GART ENSG00000159131 -138450 gene 6472 SHMT2 ENSG00000182199 -138470 gene 629 CFB ENSG00000243649 -138480 gene 81034 SLC25A32 ENSG00000164933 -138491 gene 2741 GLRA1 ENSG00000145888 -138492 gene 2743 GLRB ENSG00000109738 -138500 phenotype -138550 gene 5834 PYGB ENSG00000100994 -138570 gene 2997 GYS1 ENSG00000104812 -138571 gene 2998 GYS2 ENSG00000111713 -138590 gene 2996 GYPE ENSG00000197465 -138600 gene 5004 ORM1 ENSG00000229314 -138610 gene 5005 ORM2 ENSG00000228278 -138670 gene 1 A1BG ENSG00000121410 -138680 gene 197 AHSG ENSG00000145192 -138700 gene 350 APOH ENSG00000091583 -138710 predominantly phenotypes -138720 gene 2812 GP1BB ENSG00000203618 -138750 gene 2739 GLO1 ENSG00000124767 -138760 gene 3029 HAGH ENSG00000063854 -138770 predominantly phenotypes -138790 predominantly phenotypes -138800 phenotype -138850 gene 2798 GNRHR ENSG00000109163 -138890 gene 145258 GSC ENSG00000133937 -138900 phenotype -138920 predominantly phenotypes -138930 predominantly phenotypes -138945 gene 2896 GRN ENSG00000030582 -138960 gene 1437 CSF2 ENSG00000164400 -138965 gene 6372 CXCL6 ENSG00000124875 -138970 gene 1440 CSF3 ENSG00000108342 -138971 gene 1441 CSF3R ENSG00000119535 -138972 gene 1054 CEBPG ENSG00000153879 -138981 gene 1439 CSF2RB ENSG00000100368 -138990 moved/removed -139000 predominantly phenotypes -139080 gene 8034 SLC25A16 ENSG00000122912 -139090 phenotype -139100 phenotype -139110 gene 2920 CXCL2 ENSG00000081041 -139111 gene 2921 CXCL3 ENSG00000163734 -139130 gene 2784 GNB3 ENSG00000111664 -139139 gene 3164 NR4A1 ENSG00000123358 -139145 moved/removed -139150 gene 5921 RASA1 ENSG00000145715 -139160 gene 2781 GNAZ ENSG00000128266 -139180 gene 2772 GNAI2P1 -139185 gene 2619 GAS1 ENSG00000180447 -139190 gene 2691 GHRH ENSG00000118702 -139191 gene 2692 GHRHR ENSG00000106128 -139200 gene 2638 GC ENSG00000145321 -139210 phenotype -139220 moved/removed -139230 moved/removed -139240 gene 2689 GH2 ENSG00000136487 -139250 gene 2688 GH1 ENSG00000259384 -139255 gene 4504 MT3 ENSG00000087250 -139259 gene 2935 GSPT1 ENSG00000103342 -139260 gene 9615 GDA ENSG00000119125 -139265 gene 2766 GMPR ENSG00000137198 -139270 gene 2987 GUK1 ENSG00000143774 -139280 predominantly phenotypes 2988 GUK2 -139290 predominantly phenotypes -139300 phenotype -139310 gene 2770 GNAI1 ENSG00000127955 -139311 gene 2775 GNAO1 ENSG00000087258 -139312 gene 2774 GNAL ENSG00000141404 -139313 gene 2767 GNA11 ENSG00000088256 -139314 gene 2769 GNA15 ENSG00000060558 -139320 gene 2778 GNAS ENSG00000087460 -139330 gene 2779 GNAT1 ENSG00000114349 -139340 gene 2780 GNAT2 ENSG00000134183 -139350 gene 3848 KRT1 ENSG00000167768 -139360 gene 2771 GNAI2 ENSG00000114353 -139370 gene 2773 GNAI3 ENSG00000065135 -139380 gene 2782 GNB1 ENSG00000078369 -139390 gene 2783 GNB2 ENSG00000172354 -139391 gene 2793 GNGT2 ENSG00000167083 -139392 gene 2980 GUCA2A ENSG00000197273 -139393 phenotype -139395 gene 346562 GNAT3 ENSG00000214415 -139396 gene 2982 GUCY1A1 ENSG00000164116 -139397 gene 2983 GUCY1B1 ENSG00000061918 -139400 predominantly phenotypes -139450 phenotype 100379199 -139500 predominantly phenotypes -139600 phenotype -139605 gene 3280 HES1 ENSG00000114315 -139630 predominantly phenotypes -139650 phenotype -139750 predominantly phenotypes -139800 predominantly phenotypes -139900 phenotype 338386 -140000 phenotype -140050 gene 3001 GZMA ENSG00000145649 -140090 moved/removed -140100 gene 3240 HP ENSG00000257017 -140210 gene 3250 HPR ENSG00000261701 -140300 phenotype 140805 -140340 moved/removed -140350 phenotype -140400 phenotype 105463127 -140450 predominantly phenotypes -140500 predominantly phenotypes -140550 gene 3303 HSPA1A ENSG00000204389 -140555 gene 3310 HSPA6 ENSG00000173110 -140556 gene 3311 HSPA7 -140559 gene 3305 HSPA1L ENSG00000204390 -140560 gene 3306 HSPA2 ENSG00000126803 -140570 moved/removed -140571 gene 3320 HSP90AA1 ENSG00000080824 -140572 gene 3326 HSP90AB1 ENSG00000096384 -140573 moved/removed -140574 moved/removed -140575 gene 3324 HSP90AA2P -140576 moved/removed -140580 gene 3297 HSF1 ENSG00000185122 -140581 gene 3298 HSF2 ENSG00000025156 -140600 phenotype -140700 phenotype -140750 gene 6764 DENND2B ENSG00000166444 -140850 predominantly phenotypes -140900 predominantly phenotypes -141000 predominantly phenotypes -141180 gene 3071 NCKAP1L ENSG00000123338 -141200 phenotype -141250 gene 3162 HMOX1 ENSG00000100292 -141251 gene 3163 HMOX2 ENSG00000103415 -141300 phenotype -141350 phenotype -141400 phenotype 7971 -141405 predominantly phenotypes -141500 phenotype -141700 predominantly phenotypes -141749 phenotype -141750 phenotype -141800 gene 3039 HBA1 ENSG00000206172 -141850 gene 3040 HBA2 ENSG00000188536 -141860 gene -141900 gene 3043 HBB ENSG00000244734 -141940 moved/removed -142000 gene 3045 HBD ENSG00000223609 -142100 gene 3046 HBE1 ENSG00000213931 -142200 gene 3047 HBG1 ENSG00000213934 -142210 gene 3007 H1-3 ENSG00000124575 -142220 gene 3008 H1-4 ENSG00000168298 -142230 gene 947 CD34 ENSG00000174059 -142240 gene 3049 HBQ1 ENSG00000086506 -142250 gene 3048 HBG2 ENSG00000196565 -142270 moved/removed -142290 gene 3263 HPX ENSG00000110169 -142300 moved/removed -142309 phenotype -142310 gene 3050 HBZ ENSG00000130656 -142330 phenotype -142333 moved/removed -142335 phenotype 3247 -142340 phenotype 1732 -142350 predominantly phenotypes -142360 gene 3053 SERPIND1 ENSG00000099937 -142370 gene 3055 HCK ENSG00000101336 -142380 moved/removed -142385 gene 3131 HLF ENSG00000108924 -142390 gene -142395 phenotype -142400 phenotype -142408 gene 4485 MST1 ENSG00000173531 -142409 gene 3082 HGF ENSG00000019991 -142410 gene 6927 HNF1A ENSG00000135100 -142420 moved/removed -142440 gene 3249 HPN ENSG00000105707 -142445 gene 3084 NRG1 ENSG00000157168 -142450 moved/removed -142460 gene 6383 SDC2 ENSG00000169439 -142461 gene 3339 HSPG2 ENSG00000142798 -142470 phenotype 7954 -142500 predominantly phenotypes -142510 moved/removed -142550 moved/removed -142560 gene 7919 DDX39B ENSG00000198563 -142570 gene 3101 HK3 ENSG00000160883 -142580 gene 7916 PRRC2A ENSG00000204469 -142590 gene 7917 BAG6 ENSG00000204463 -142600 gene 3098 HK1 ENSG00000156515 -142610 gene 7918 GPANK1 ENSG00000204438 -142620 gene 7920 ABHD16A ENSG00000204427 -142622 gene 3208 HPCA ENSG00000121905 -142623 phenotype -142625 predominantly phenotypes -142630 predominantly phenotypes -142640 gene 3273 HRG ENSG00000113905 -142660 predominantly phenotypes -142669 phenotype -142680 phenotype -142690 phenotype -142695 gene 3069 HDLBP ENSG00000115677 -142700 phenotype 780896 -142701 gene 3346 HTN1 ENSG00000126550 -142702 gene 3347 HTN3 ENSG00000205649 -142703 gene 3274 HRH2 ENSG00000113749 -142704 gene 3067 HDC ENSG00000140287 -142705 gene 3270 HRC ENSG00000130528 -142708 gene 3005 H1-0 ENSG00000189060 -142709 gene 3024 H1-1 ENSG00000124610 -142710 gene 3006 H1-2 ENSG00000187837 -142711 gene 3009 H1-5 ENSG00000184357 -142712 gene 3010 H1-6 ENSG00000187475 -142720 gene 8337 H2AC18 ENSG00000288825 -142730 predominantly phenotypes -142750 gene 8370 H4C14 ENSG00000270882 -142760 moved/removed -142763 gene 3015 H2AZ1 ENSG00000164032 -142765 gene 5990 RFX2 ENSG00000087903 -142770 predominantly phenotypes -142780 gene 126961 H3C14 ENSG00000203811 -142790 gene 972 CD74 ENSG00000019582 -142795 gene -142800 gene 3105 HLA-A ENSG00000206503 -142810 gene 3035 HARS1 ENSG00000170445 -142830 gene/phenotype 3106 HLA-B ENSG00000234745 -142840 gene 3107 HLA-C ENSG00000204525 -142850 moved/removed -142855 gene 3108 HLA-DMA ENSG00000204257 -142856 gene 3109 HLA-DMB ENSG00000242574 -142857 gene 3123 HLA-DRB1 ENSG00000196126 -142858 gene 3115 HLA-DPB1 ENSG00000223865 -142860 gene 3122 HLA-DRA ENSG00000204287 -142870 moved/removed -142871 gene 3135 HLA-G ENSG00000204632 -142880 gene 3113 HLA-DPA1 ENSG00000231389 -142890 gene -142900 phenotype -142910 gene/phenotype 3156 HMGCR ENSG00000113161 -142920 gene -142925 moved/removed -142930 gene 3111 HLA-DOA ENSG00000204252 -142940 gene 3157 HMGCS1 ENSG00000112972 -142945 phenotype -142946 phenotype -142950 gene 3204 HOXA7 ENSG00000122592 -142951 gene 3203 HOXA6 ENSG00000106006 -142952 gene 3202 HOXA5 ENSG00000106004 -142953 gene 3201 HOXA4 ENSG00000197576 -142954 gene 3200 HOXA3 ENSG00000105997 -142955 gene 3198 HOXA1 ENSG00000105991 -142956 gene 3205 HOXA9 ENSG00000078399 -142957 gene 3206 HOXA10 ENSG00000253293 -142958 gene 3207 HOXA11 ENSG00000005073 -142959 gene 3209 HOXA13 ENSG00000106031 -142960 gene 3215 HOXB5 ENSG00000120075 -142961 gene 3216 HOXB6 ENSG00000108511 -142962 gene 3217 HOXB7 ENSG00000260027 -142963 gene 3218 HOXB8 ENSG00000120068 -142964 gene 3219 HOXB9 ENSG00000170689 -142965 gene 3214 HOXB4 ENSG00000182742 -142966 gene 3213 HOXB3 ENSG00000120093 -142967 gene 3212 HOXB2 ENSG00000173917 -142968 gene 3211 HOXB1 ENSG00000120094 -142970 gene 3224 HOXC8 ENSG00000037965 -142971 gene 3225 HOXC9 ENSG00000180806 -142972 gene 3223 HOXC6 ENSG00000197757 -142973 gene 3222 HOXC5 ENSG00000172789 -142974 gene 3221 HOXC4 ENSG00000198353 -142975 gene 3228 HOXC12 ENSG00000123407 -142976 gene 3229 HOXC13 ENSG00000123364 -142980 gene 3232 HOXD3 ENSG00000128652 -142981 gene 3233 HOXD4 ENSG00000170166 -142982 gene 3235 HOXD9 ENSG00000128709 -142983 gene 4487 MSX1 ENSG00000163132 -142984 gene 3236 HOXD10 ENSG00000128710 -142985 gene 3234 HOXD8 ENSG00000175879 -142986 gene 3237 HOXD11 ENSG00000128713 -142987 gene 3231 HOXD1 ENSG00000128645 -142988 gene 3238 HOXD12 ENSG00000170178 -142989 gene 3239 HOXD13 ENSG00000128714 -142990 moved/removed -142991 gene 344191 EVX2 ENSG00000174279 -142992 gene 3166 HMX1 ENSG00000215612 -142993 gene 338917 VSX2 ENSG00000119614 -142994 gene 3110 MNX1 ENSG00000130675 -142995 gene 3142 HLX ENSG00000136630 -142996 gene 2128 EVX1 ENSG00000106038 -143000 phenotype -143010 gene 3133 HLA-E ENSG00000204592 -143020 predominantly phenotypes -143023 gene 8045 RASSF7 ENSG00000099849 -143024 gene 2794 GNL1 ENSG00000204590 -143025 gene 3272 HRES1 -143030 gene 928 CD9 ENSG00000010278 -143040 gene -143050 predominantly phenotypes -143054 gene 3097 HIVEP2 ENSG00000010818 -143055 gene 904 CCNT1 ENSG00000129315 -143060 gene -143065 moved/removed -143070 moved/removed -143080 moved/removed -143089 gene 3344 FOXN2 ENSG00000170802 -143090 moved/removed -143095 phenotype -143100 phenotype -143110 gene 3134 HLA-F ENSG00000204642 -143150 moved/removed -143170 gene 4201 MEA1 ENSG00000124733 -143200 phenotype -143400 phenotype -143450 gene 3032 HADHB ENSG00000138029 -143460 predominantly phenotypes 3349 HTOR -143465 phenotype -143470 phenotype -143500 phenotype -143850 phenotype 50948 -143860 phenotype -143870 phenotype -143880 phenotype -143890 phenotype -144010 phenotype -144020 predominantly phenotypes -144050 predominantly phenotypes -144100 predominantly phenotypes -144110 phenotype 100861529 -144120 predominantly phenotypes -144150 phenotype 100188397 -144190 predominantly phenotypes -144200 phenotype -144250 phenotype -144300 predominantly phenotypes -144400 moved/removed -144600 predominantly phenotypes -144650 phenotype -144700 phenotype -144750 phenotype -144755 phenotype -144800 predominantly phenotypes -145000 phenotype -145001 phenotype -145100 phenotype -145200 predominantly phenotypes -145250 phenotype -145260 phenotype 7830 -145270 predominantly phenotypes -145290 predominantly phenotypes 7974 -145295 predominantly phenotypes -145300 predominantly phenotypes -145350 phenotype -145400 phenotype -145410 moved/removed -145420 phenotype -145500 phenotype -145505 gene 6296 ACSM3 ENSG00000005187 -145590 predominantly phenotypes -145600 phenotype -145650 phenotype -145680 phenotype -145700 phenotype -145701 phenotype 3341 -145750 phenotype -145800 phenotype -145900 phenotype -145980 phenotype -145981 phenotype -146000 phenotype -146110 phenotype -146150 moved/removed -146160 predominantly phenotypes -146200 phenotype -146255 phenotype -146300 phenotype -146350 phenotype 100187828 -146390 phenotype -146400 moved/removed -146450 phenotype 100689211 -146500 phenotype -146510 phenotype -146520 phenotype -146530 moved/removed -146550 phenotype -146580 predominantly phenotypes -146590 phenotype -146600 predominantly phenotypes -146630 gene 3384 ICAM2 ENSG00000108622 -146631 gene 3385 ICAM3 ENSG00000076662 -146640 gene 3698 ITIH2 ENSG00000151655 -146650 gene 3699 ITIH3 ENSG00000162267 -146660 gene 3574 IL7 ENSG00000104432 -146661 gene 3575 IL7R ENSG00000168685 -146680 gene 3416 IDE ENSG00000119912 -146690 gene 3614 IMPDH1 ENSG00000106348 -146691 gene 3615 IMPDH2 ENSG00000178035 -146692 moved/removed -146700 phenotype -146710 gene 3560 IL2RB ENSG00000100385 -146720 predominantly phenotypes -146730 gene 3484 IGFBP1 ENSG00000146678 -146731 gene 3485 IGFBP2 ENSG00000115457 -146732 gene 3486 IGFBP3 ENSG00000146674 -146733 gene 3487 IGFBP4 ENSG00000141753 -146734 gene 3488 IGFBP5 ENSG00000115461 -146735 gene 3489 IGFBP6 ENSG00000167779 -146738 gene 3640 INSL3 ENSG00000248099 -146740 gene 2214 FCGR3A ENSG00000203747 -146750 phenotype -146760 gene 2209 FCGR1A ENSG00000150337 -146770 gene 3543 IGLL1 ENSG00000128322 -146771 moved/removed -146780 gene 3515 IGKDEL -146790 gene 2212 FCGR2A ENSG00000143226 -146800 phenotype -146810 predominantly phenotypes -146820 predominantly phenotypes 7927 -146830 predominantly phenotypes -146840 moved/removed -146850 predominantly phenotypes 7928 -146880 gene 3117 HLA-DQA1 ENSG00000196735 -146900 gene 3493 IGHA1 ENSG00000211895 -146910 gene 3492 IGH -146920 gene 103 ADAR ENSG00000160710 -146928 gene 3579 CXCR2 ENSG00000180871 -146929 gene 3577 CXCR1 ENSG00000163464 -146930 gene 3576 CXCL8 ENSG00000169429 -146931 gene 3578 IL9 ENSG00000145839 -146932 moved/removed -146933 gene 3587 IL10RA ENSG00000110324 -146940 moved/removed -146950 predominantly phenotypes -146960 predominantly phenotypes -146970 gene 7842 -146980 gene 3519 -146990 predominantly phenotypes 3496 -147000 gene 3494 IGHA2 ENSG00000211890 -147010 gene 3492 IGH -147020 gene 3507 IGHM ENSG00000211899 -147040 gene 3433 IFIT2 ENSG00000119922 -147045 gene 2204 FCAR ENSG00000186431 -147050 phenotype -147060 phenotype -147061 phenotype 3478 -147070 gene 3492 IGH -147080 predominantly phenotypes 7925 -147090 predominantly phenotypes 7926 -147100 gene 3500 IGHG1 ENSG00000211896 -147110 gene 3501 IGHG2 ENSG00000211893 -147120 gene 3502 IGHG3 ENSG00000211897 -147130 gene 3503 IGHG4 ENSG00000211892 -147138 gene 2206 MS4A2 ENSG00000149534 -147139 gene 2207 FCER1G ENSG00000158869 -147140 gene 2205 FCER1A ENSG00000179639 -147141 gene 6929 TCF3 ENSG00000071564 -147150 gene 4599 MX1 ENSG00000157601 -147160 moved/removed -147170 gene 3495 IGHD ENSG00000211898 -147180 gene 3497 IGHE ENSG00000211891 -147183 gene 3516 RBPJ ENSG00000168214 -147185 gene 28862 IGKV1OR2-108 -147200 gene 3514 IGKC ENSG00000211592 -147210 moved/removed -147220 gene 3537 IGLC1 ENSG00000211675 -147230 gene 8217 -147240 gene 3546 -147245 gene 974 CD79B ENSG00000007312 -147250 phenotype -147251 predominantly phenotypes -147260 predominantly phenotypes -147263 gene 3628 INPP1 ENSG00000151689 -147264 gene 3633 INPP5B ENSG00000204084 -147265 gene 3708 ITPR1 ENSG00000150995 -147267 gene 3710 ITPR3 ENSG00000096433 -147270 gene 3697 ITIH1 ENSG00000055957 -147280 gene 3482 IGF2R ENSG00000197081 -147290 gene 3624 INHBA ENSG00000122641 -147300 predominantly phenotypes -147310 gene 3627 CXCL10 ENSG00000169245 -147320 predominantly phenotypes -147330 predominantly phenotypes -147350 predominantly phenotypes -147360 gene 3713 IVL ENSG00000163207 -147370 gene 3480 IGF1R ENSG00000140443 -147380 gene 3623 INHA ENSG00000123999 -147390 gene 3625 INHBB ENSG00000163083 -147400 phenotype -147410 moved/removed -147420 moved/removed -147421 phenotype -147430 phenotype -147435 gene 3620 IDO1 ENSG00000131203 -147440 gene 3479 IGF1 ENSG00000017427 -147450 gene 6647 SOD1 ENSG00000142168 -147460 gene 6648 SOD2 ENSG00000112096 -147470 gene 3481 IGF2 ENSG00000167244 -147480 phenotype -147485 gene 3652 IPP ENSG00000197429 -147490 moved/removed -147510 gene -147520 gene 3704 ITPA ENSG00000125877 -147521 gene 3706 ITPKA ENSG00000137825 -147522 gene 3707 ITPKB ENSG00000143772 -147530 predominantly phenotypes -147540 predominantly phenotypes -147545 gene/phenotype 3667 IRS1 ENSG00000169047 -147553 gene 3467 IFNW1 ENSG00000177047 -147554 moved/removed -147556 gene 3655 ITGA6 ENSG00000091409 -147557 gene 3691 ITGB4 ENSG00000132470 -147558 gene 3694 ITGB6 ENSG00000115221 -147559 gene 3695 ITGB7 ENSG00000139626 -147560 predominantly phenotypes -147561 gene 3693 ITGB5 ENSG00000082781 -147562 gene 3440 IFNA2 ENSG00000188379 -147563 gene 3381 IBSP ENSG00000029559 -147564 gene 3441 IFNA4 ENSG00000236637 -147565 gene 3442 IFNA5 ENSG00000147873 -147566 gene 3443 IFNA6 ENSG00000120235 -147567 gene 3444 IFNA7 ENSG00000214042 -147568 gene 3445 IFNA8 ENSG00000120242 -147569 gene 3460 IFNGR2 ENSG00000159128 -147570 gene 3458 IFNG ENSG00000111537 -147571 gene 9636 ISG15 ENSG00000187608 -147572 gene 2537 IFI6 ENSG00000126709 -147573 gene 3466 IFNR -147574 gene 10379 IRF9 ENSG00000213928 -147575 gene 3659 IRF1 ENSG00000125347 -147576 gene 3660 IRF2 ENSG00000168310 -147577 gene 3446 IFNA10 ENSG00000186803 -147578 gene 3447 IFNA13 ENSG00000233816 -147579 gene 3448 IFNA14 ENSG00000228083 -147580 gene 3449 IFNA16 ENSG00000147885 -147581 moved/removed -147582 gene 3658 IREB2 ENSG00000136381 -147583 gene 3451 IFNA17 ENSG00000234829 -147584 gene 3452 IFNA21 ENSG00000137080 -147585 moved/removed -147586 gene 3428 IFI16 ENSG00000163565 -147590 moved/removed -147610 predominantly phenotypes -147620 gene 3569 IL6 ENSG00000136244 -147625 gene 3382 ICA1 ENSG00000003147 -147630 phenotype -147640 gene 3456 IFNB1 ENSG00000171855 -147650 gene 3418 IDH2 ENSG00000182054 -147660 gene 3439 IFNA1 ENSG00000197919 -147670 gene 3643 INSR ENSG00000171105 -147671 gene 3645 INSRR ENSG00000027644 -147678 gene 834 CASP1 ENSG00000137752 -147679 gene 3557 IL1RN ENSG00000136689 -147680 gene 3558 IL2 ENSG00000109471 -147681 gene 3589 IL11 ENSG00000095752 -147683 gene 3596 IL13 ENSG00000169194 -147684 moved/removed -147685 gene 3607 FOXK2 ENSG00000141568 -147686 moved/removed -147690 gene 3434 IFIT1 ENSG00000185745 -147700 gene 3417 IDH1 ENSG00000138413 -147710 predominantly phenotypes -147720 gene 3553 IL1B ENSG00000125538 -147730 gene 3559 IL2RA ENSG00000134460 -147740 gene 3562 IL3 ENSG00000164399 -147750 phenotype -147760 gene 3552 IL1A ENSG00000115008 -147770 phenotype -147780 gene 3565 IL4 ENSG00000113520 -147781 gene 3566 IL4R ENSG00000077238 -147790 gene 3512 JCHAIN ENSG00000132465 -147791 phenotype -147795 gene 3716 JAK1 ENSG00000162434 -147796 gene 3717 JAK2 ENSG00000096968 -147800 phenotype -147810 gene 3554 IL1R1 ENSG00000115594 -147811 gene 7850 IL1R2 ENSG00000115590 -147820 predominantly phenotypes -147830 gene -147840 gene 3383 ICAM1 ENSG00000090339 -147850 gene 3567 IL5 ENSG00000113525 -147851 gene 3568 IL5RA ENSG00000091181 -147860 predominantly phenotypes -147870 gene 7472 WNT2 ENSG00000105989 -147880 gene 3570 IL6R ENSG00000160712 -147890 gene 4600 MX2 ENSG00000183486 -147891 phenotype -147892 gene 1733 DIO1 ENSG00000211452 -147900 phenotype -147910 gene 3816 KLK1 ENSG00000167748 -147920 phenotype -147935 gene 5267 SERPINA4 ENSG00000100665 -147940 gene 3375 IAPP ENSG00000121351 -147950 phenotype -147960 gene 3817 KLK2 ENSG00000167751 -148000 phenotype -148020 gene 3880 KRT19 ENSG00000171345 -148021 gene 3846 KRTAP5-9 ENSG00000254997 -148022 gene 387264 KRTAP5-1 ENSG00000205869 -148030 gene 3866 KRT15 ENSG00000171346 -148040 gene 3852 KRT5 ENSG00000186081 -148041 gene 3853 KRT6A ENSG00000205420 -148042 gene 3854 KRT6B ENSG00000185479 -148043 gene 3850 KRT3 ENSG00000186442 -148050 phenotype -148059 gene 3855 KRT7 ENSG00000135480 -148060 gene 3856 KRT8 ENSG00000170421 -148065 gene 3860 KRT13 ENSG00000171401 -148066 gene 3861 KRT14 ENSG00000186847 -148067 gene 3868 KRT16 ENSG00000186832 -148069 gene 3872 KRT17 ENSG00000128422 -148070 gene 3875 KRT18 ENSG00000111057 -148080 gene 3858 KRT10 ENSG00000186395 -148100 phenotype -148180 gene 2252 FGF7 ENSG00000140285 -148181 moved/removed -148190 phenotype -148200 phenotype -148210 phenotype -148300 phenotype -148350 phenotype -148360 predominantly phenotypes -148370 phenotype -148390 predominantly phenotypes -148500 phenotype -148520 predominantly phenotypes -148600 phenotype -148700 phenotype -148730 phenotype -148750 gene -148760 gene 3832 KIF11 ENSG00000138160 -148800 predominantly phenotypes -148820 phenotype -148840 phenotype -148860 moved/removed -148870 moved/removed -148900 moved/removed -149000 phenotype 791122 -149100 phenotype -149200 phenotype -149300 phenotype -149400 phenotype -149500 predominantly phenotypes -149600 predominantly phenotypes -149700 phenotype -149730 phenotype -149750 gene 3906 LALBA ENSG00000167531 -150000 gene 3939 LDHA ENSG00000134333 -150100 gene 3945 LDHB ENSG00000111716 -150150 gene 3948 LDHC ENSG00000166796 -150160 moved/removed -150170 predominantly phenotypes -150200 gene 1442 CSH1 ENSG00000136488 -150205 gene 4025 LPO ENSG00000167419 -150210 gene 4057 LTF ENSG00000012223 -150220 moved/removed -150230 phenotype -150240 gene 3912 LAMB1 ENSG00000091136 -150250 phenotype -150260 phenotype -150270 phenotype 7939 -150280 predominantly phenotypes -150290 gene 3915 LAMC1 ENSG00000135862 -150292 gene 3918 LAMC2 ENSG00000058085 -150300 predominantly phenotypes -150310 gene 3914 LAMB3 ENSG00000196878 -150320 gene 284217 LAMA1 ENSG00000101680 -150325 gene 3913 LAMB2 ENSG00000172037 -150330 gene 4000 LMNA ENSG00000160789 -150340 gene 4001 LMNB1 ENSG00000113368 -150341 gene 84823 LMNB2 ENSG00000176619 -150360 predominantly phenotypes -150370 gene 3921 RPSA ENSG00000168028 -150390 gene 4052 LTBP1 ENSG00000049323 -150400 phenotype -150500 predominantly phenotypes -150550 phenotype -150570 gene 3956 LGALS1 ENSG00000100097 -150571 gene 3957 LGALS2 ENSG00000100079 -150590 predominantly phenotypes -150600 phenotype -150699 phenotype -150700 predominantly phenotypes -150800 phenotype -150900 predominantly phenotypes -151000 predominantly phenotypes -151001 phenotype 619539 -151020 gene -151050 phenotype -151100 phenotype -151200 phenotype -151210 phenotype -151250 gene -151290 gene 27087 B3GAT1 ENSG00000109956 -151300 gene 4012 LNPEP ENSG00000113441 -151310 gene 3343 -151350 gene 51520 LARS1 ENSG00000133706 -151380 predominantly phenotypes -151385 gene 861 RUNX1 ENSG00000159216 -151390 moved/removed -151400 phenotype -151410 gene 613 BCR ENSG00000186716 -151430 gene/phenotype 596 BCL2 ENSG00000171791 -151440 gene 4066 LYL1 ENSG00000104903 -151441 gene 603 -151442 gene 3925 STMN1 ENSG00000117632 -151443 gene 3977 LIFR ENSG00000113594 -151445 gene 2208 FCER2 ENSG00000104921 -151450 predominantly phenotypes 7895 -151460 gene 5788 PTPRC ENSG00000081237 -151465 moved/removed -151500 predominantly phenotypes -151510 gene 3687 ITGAX ENSG00000140678 -151520 gene 4058 LTK ENSG00000062524 -151523 gene 951 CD37 ENSG00000104894 -151525 gene 963 CD53 ENSG00000143119 -151530 gene 290 ANPEP ENSG00000166825 -151540 moved/removed -151550 moved/removed -151570 gene 4048 LTA4H ENSG00000111144 -151580 moved/removed -151590 predominantly phenotypes -151600 phenotype -151610 predominantly phenotypes -151620 predominantly phenotypes -151623 phenotype -151625 gene 100529141 LGTN -151626 gene -151627 gene -151628 gene -151630 phenotype -151640 predominantly phenotypes -151660 phenotype -151670 gene 3990 LIPC ENSG00000166035 -151675 gene 3933 LCN1 ENSG00000160349 -151680 moved/removed -151690 gene 301 ANXA1 ENSG00000135046 -151700 predominantly phenotypes -151710 moved/removed -151720 moved/removed -151730 moved/removed -151740 gene 302 ANXA2 ENSG00000182718 -151750 gene 3991 LIPE ENSG00000079435 -151800 predominantly phenotypes -151900 phenotype -151990 gene 3929 LBP ENSG00000129988 -152100 phenotype -152200 gene 4018 LPA ENSG00000198670 -152300 predominantly phenotypes -152310 gene 7035 TFPI ENSG00000003436 -152390 gene 240 ALOX5 ENSG00000012779 -152391 gene 239 ALOX12 ENSG00000108839 -152392 gene 246 ALOX15 ENSG00000161905 -152400 predominantly phenotypes -152420 predominantly phenotypes -152422 gene -152423 moved/removed -152424 gene 109580095 -152425 gene 2180 ACSL1 ENSG00000151726 -152426 moved/removed -152427 gene 3757 KCNH2 ENSG00000055118 -152430 phenotype 140802 -152445 gene 4014 LORICRIN ENSG00000203782 -152450 predominantly phenotypes -152460 moved/removed -152550 predominantly phenotypes -152600 predominantly phenotypes -152690 gene 2547 XRCC6 ENSG00000196419 -152700 phenotype -152760 gene 2796 GNRH1 ENSG00000147437 -152761 moved/removed -152780 gene 3972 LHB ENSG00000104826 -152790 gene 3973 LHCGR ENSG00000138039 -152800 phenotype -152900 predominantly phenotypes -152950 phenotype -153000 moved/removed -153100 phenotype -153200 phenotype -153240 gene 6402 SELL ENSG00000188404 -153243 gene 943 TNFRSF8 ENSG00000120949 -153245 gene/phenotype 51176 LEF1 ENSG00000138795 -153280 predominantly phenotypes -153290 predominantly phenotypes -153300 phenotype -153310 gene 1178 CLC ENSG00000105205 -153330 gene 3916 LAMP1 ENSG00000185896 -153335 moved/removed -153337 gene 3902 LAG3 ENSG00000089692 -153340 gene 921 CD5 ENSG00000110448 -153360 moved/removed -153370 gene 3683 ITGAL ENSG00000005844 -153380 gene 7938 -153390 gene 3932 LCK ENSG00000182866 -153400 phenotype -153420 gene 965 CD58 ENSG00000116815 -153430 gene 3936 LCP1 ENSG00000136167 -153432 gene 4046 LSP1 ENSG00000130592 -153435 gene 3905 -153440 gene 4049 LTA ENSG00000226979 -153450 gene 4069 LYZ ENSG00000090382 -153454 gene 5351 PLOD1 ENSG00000083444 -153455 gene 4015 LOX ENSG00000113083 -153456 gene 4016 LOXL1 ENSG00000129038 -153460 moved/removed -153470 predominantly phenotypes -153480 moved/removed -153550 phenotype -153600 phenotype -153615 gene 822 CAPG ENSG00000042493 -153618 gene 4360 MRC1 ENSG00000260314 -153619 gene 3958 LGALS3 ENSG00000131981 -153620 gene 4282 MIF ENSG00000240972 -153622 gene 4481 MSR1 ENSG00000038945 -153630 phenotype -153634 gene 968 CD68 ENSG00000129226 -153640 moved/removed -153650 moved/removed -153670 phenotype -153700 phenotype -153800 phenotype -153840 phenotype 7438 -153860 moved/removed -153870 phenotype -153880 phenotype 1541 -153890 predominantly phenotypes -153900 moved/removed -154000 moved/removed -154020 phenotype -154030 gene 4904 YBX1 ENSG00000065978 -154040 gene 7936 NELFE ENSG00000204356 -154045 gene 3982 LIM2 ENSG00000105370 -154050 gene 4284 MIP ENSG00000135517 -154100 gene 4191 MDH2 ENSG00000146701 -154200 gene 4190 MDH1 ENSG00000014641 -154230 phenotype -154235 gene 4117 MAK ENSG00000111837 -154250 gene 4199 ME1 ENSG00000065833 -154270 gene 4200 ME2 ENSG00000082212 -154275 phenotype 4264 -154276 phenotype 7977 -154280 gene 6298 -154300 predominantly phenotypes -154360 gene 8972 MGAM ENSG00000257335 -154365 gene 5701 PSMC2 ENSG00000161057 -154370 predominantly phenotypes -154400 phenotype -154500 phenotype -154540 gene 4074 M6PR ENSG00000003056 -154545 gene 4153 MBL2 ENSG00000165471 -154550 gene 4351 MPI ENSG00000178802 -154570 phenotype -154580 gene 4123 MAN2C1 ENSG00000140400 -154582 gene 4124 MAN2A1 ENSG00000112893 -154600 predominantly phenotypes -154700 phenotype -154705 moved/removed -154750 predominantly phenotypes -154780 phenotype -154790 gene 5268 SERPINB5 ENSG00000206075 -154800 phenotype -154850 predominantly phenotypes -154870 gene 4256 MGP ENSG00000111341 -154950 gene 4149 MAX ENSG00000125952 -155000 phenotype -155050 phenotype -155100 phenotype -155120 gene 4185 ADAM11 ENSG00000073670 -155140 predominantly phenotypes -155145 phenotype -155150 predominantly phenotypes -155200 predominantly phenotypes -155240 phenotype -155250 moved/removed -155255 phenotype -155310 phenotype -155350 phenotype -155500 phenotype -155540 gene 4159 MC3R ENSG00000124089 -155541 gene 4160 MC4R ENSG00000166603 -155550 gene 6490 PMEL ENSG00000185664 -155555 gene 4157 MC1R ENSG00000258839 -155600 phenotype 1243 -155601 phenotype -155700 predominantly phenotypes -155720 phenotype -155730 gene 2919 CXCL1 ENSG00000163739 -155735 gene 4162 MCAM ENSG00000076706 -155740 gene 967 CD63 ENSG00000135404 -155741 moved/removed -155750 gene 4241 MELTF ENSG00000163975 -155755 phenotype -155760 gene 176 ACAN ENSG00000157766 -155770 predominantly phenotypes -155800 moved/removed -155900 phenotype 8011 -155950 phenotype -155960 moved/removed -155970 gene 4345 CD200 ENSG00000091972 -155975 moved/removed -155980 phenotype -156000 predominantly phenotypes -156100 gene 4330 MN1 ENSG00000169184 -156190 predominantly phenotypes -156200 phenotype -156220 predominantly phenotypes -156225 gene 3908 LAMA2 ENSG00000196569 -156230 phenotype -156232 phenotype 10305 -156240 phenotype -156250 phenotype -156300 predominantly phenotypes -156310 predominantly phenotypes -156340 moved/removed -156349 gene 4490 MT1B ENSG00000169688 -156350 gene 4489 MT1A ENSG00000205362 -156351 gene 4493 MT1E ENSG00000169715 -156352 gene 4494 MT1F ENSG00000198417 -156353 gene 4495 MT1G ENSG00000125144 -156354 gene 4496 MT1H ENSG00000205358 -156355 gene 644314 MT1IP -156356 gene 4498 MT1JP ENSG00000255986 -156357 gene 4499 MT1M ENSG00000205364 -156358 gene 4500 MT1L ENSG00000260549 -156359 gene 4501 MT1X ENSG00000187193 -156360 gene 4502 MT2A ENSG00000125148 -156400 phenotype -156490 gene 4830 NME1 ENSG00000239672 -156491 gene 4831 NME2 ENSG00000243678 -156500 phenotype -156510 phenotype -156520 phenotype -156530 phenotype -156535 gene 4152 MBD1 ENSG00000141644 -156536 moved/removed -156540 gene 4507 MTAP ENSG00000099810 -156550 phenotype -156560 gene 4141 MARS1 ENSG00000166986 -156565 gene 4350 MPG ENSG00000103152 -156569 gene 4255 MGMT ENSG00000170430 -156570 gene 4548 MTR ENSG00000116984 -156575 moved/removed -156580 phenotype -156590 moved/removed -156600 phenotype -156610 phenotype -156620 predominantly phenotypes -156700 predominantly phenotypes -156790 gene 4237 MFAP2 ENSG00000117122 -156810 predominantly phenotypes -156830 predominantly phenotypes -156845 gene 4286 MITF ENSG00000187098 -156850 phenotype 8130 -156900 predominantly phenotypes -157100 moved/removed -157129 gene 4131 MAP1B ENSG00000131711 -157130 gene 4133 MAP2 ENSG00000078018 -157132 gene 4134 MAP4 ENSG00000047849 -157140 gene 4137 MAPT ENSG00000186868 -157145 gene 4477 MSMB ENSG00000263639 -157147 gene 4547 MTTP ENSG00000138823 -157150 predominantly phenotypes -157151 predominantly phenotypes -157160 moved/removed -157170 phenotype -157200 predominantly phenotypes -157300 phenotype 192115 -157400 phenotype -157500 moved/removed -157550 moved/removed -157560 predominantly phenotypes 7824 -157570 predominantly phenotypes -157600 phenotype -157640 phenotype -157650 moved/removed -157655 gene 4719 NDUFS1 ENSG00000023228 -157660 gene 6023 RMRP ENSG00000269900 -157670 moved/removed -157680 gene 995 CDC25C ENSG00000158402 -157700 phenotype 50951 -157800 phenotype -157860 moved/removed -157900 phenotype 4156 -157910 moved/removed -157920 moved/removed -157950 phenotype -157960 predominantly phenotypes 4309 -157970 gene 5713 PSMD7 ENSG00000103035 -157975 moved/removed -157980 predominantly phenotypes -158000 phenotype -158020 moved/removed -158030 predominantly phenotypes -158040 predominantly phenotypes -158050 predominantly phenotypes 7960 -158070 gene 6520 SLC3A2 ENSG00000168003 -158100 predominantly phenotypes -158105 gene/phenotype 6347 CCL2 ENSG00000108691 -158106 gene 6354 CCL7 ENSG00000108688 -158120 gene 929 CD14 ENSG00000170458 -158130 moved/removed -158150 moved/removed -158170 phenotype -158250 predominantly phenotypes -158270 gene 4295 MLN ENSG00000096395 -158280 predominantly phenotypes -158300 phenotype -158310 phenotype -158320 phenotype -158330 phenotype -158340 gene 4582 MUC1 ENSG00000185499 -158343 gene 4363 ABCC1 ENSG00000103222 -158345 predominantly phenotypes -158350 phenotype -158370 gene 4583 MUC2 ENSG00000198788 -158371 gene 4584 MUC3A ENSG00000169894 -158372 gene 4585 MUC4 ENSG00000145113 -158373 gene 4586 MUC5AC ENSG00000215182 -158374 gene 4588 MUC6 ENSG00000184956 -158375 gene 4589 MUC7 ENSG00000171195 -158378 gene 6575 SLC20A2 ENSG00000168575 -158380 gene 2123 EVI2A ENSG00000126860 -158381 gene 2124 EVI2B ENSG00000185862 -158400 phenotype -158500 phenotype -158580 phenotype -158590 phenotype -158600 phenotype -158650 predominantly phenotypes -158700 moved/removed -158800 predominantly phenotypes -158810 phenotype -158900 phenotype -158901 phenotype -159000 moved/removed -159001 moved/removed -159050 phenotype -159100 predominantly phenotypes -159300 phenotype -159350 gene 4163 MCC ENSG00000171444 -159400 predominantly phenotypes -159405 gene 4603 MYBL1 ENSG00000185697 -159410 predominantly phenotypes -159420 predominantly phenotypes -159430 gene 4155 MBP ENSG00000197971 -159440 gene 4359 MPZ ENSG00000158887 -159455 moved/removed -159460 gene 4099 MAG ENSG00000105695 -159465 gene 4340 MOG ENSG00000204655 -159500 predominantly phenotypes -159530 gene 4352 MPL ENSG00000117400 -159540 gene 3976 LIF ENSG00000128342 -159550 phenotype -159552 gene 4170 MCL1 ENSG00000143384 -159553 gene 4332 MNDA ENSG00000163563 -159555 gene 4297 KMT2A ENSG00000118058 -159556 gene 4298 MLLT1 ENSG00000130382 -159557 gene 4299 AFF1 ENSG00000172493 -159558 gene 4300 MLLT3 ENSG00000171843 -159559 gene 4301 AFDN ENSG00000130396 -159580 predominantly phenotypes -159590 gene 945 CD33 ENSG00000105383 -159595 phenotype 8205 -159600 phenotype -159700 moved/removed -159800 predominantly phenotypes -159900 phenotype -159950 phenotype -159970 gene 4654 MYOD1 ENSG00000129152 -159980 gene 4656 MYOG ENSG00000122180 -159990 gene 4617 MYF5 ENSG00000111049 -159991 gene 4618 MYF6 ENSG00000111046 -160000 gene 4151 MB ENSG00000198125 -160010 phenotype -160100 moved/removed -160120 phenotype -160150 phenotype -160200 moved/removed -160300 phenotype -160500 phenotype -160550 moved/removed -160565 phenotype -160570 predominantly phenotypes -160700 phenotype 4658 -160710 gene 4624 MYH6 ENSG00000197616 -160720 gene 4621 MYH3 ENSG00000109063 -160730 gene 4619 MYH1 ENSG00000109061 -160740 gene 4620 MYH2 ENSG00000125414 -160741 gene 4626 MYH8 ENSG00000133020 -160742 gene 4622 MYH4 ENSG00000264424 -160745 gene 4629 MYH11 ENSG00000133392 -160750 phenotype -160760 gene 4625 MYH7 ENSG00000092054 -160770 gene 4635 MYL4 ENSG00000198336 -160775 gene 4627 MYH9 ENSG00000100345 -160776 gene 4628 MYH10 ENSG00000133026 -160777 gene 4644 MYO5A ENSG00000197535 -160780 gene 4632 MYL1 ENSG00000168530 -160781 gene 4633 MYL2 ENSG00000111245 -160782 gene 4636 MYL5 ENSG00000215375 -160790 gene 4634 MYL3 ENSG00000160808 -160793 gene 4606 MYBPC2 ENSG00000086967 -160794 gene 4604 MYBPC1 ENSG00000196091 -160795 gene 4608 MYBPH ENSG00000133055 -160800 phenotype -160900 phenotype -160980 phenotype -160990 predominantly phenotypes -160993 gene 4836 NMT1 ENSG00000136448 -160994 gene 4670 HNRNPM ENSG00000099783 -160995 gene 4245 MGAT1 ENSG00000131446 -160998 gene 4835 NQO2 ENSG00000124588 -161000 phenotype -161015 gene 4723 NDUFV1 ENSG00000167792 -161050 phenotype -161070 predominantly phenotypes -161080 predominantly phenotypes -161100 predominantly phenotypes -161200 phenotype -161400 phenotype -161470 predominantly phenotypes -161480 predominantly phenotypes -161500 phenotype -161530 predominantly phenotypes -161550 phenotype 100312951 -161555 gene 3821 KLRC1 ENSG00000134545 -161560 gene 3592 IL12A ENSG00000168811 -161561 gene 3593 IL12B ENSG00000113302 -161565 gene 4820 NKTR ENSG00000114857 -161600 predominantly phenotypes -161650 gene 4703 NEB ENSG00000183091 -161700 predominantly phenotypes -161800 phenotype -161900 phenotype 59331 -161950 phenotype 60498 -162000 phenotype -162010 gene 4804 NGFR ENSG00000064300 -162020 moved/removed -162030 gene 4803 NGF ENSG00000134259 -162040 moved/removed -162060 gene 2596 GAP43 ENSG00000172020 -162080 gene 4901 NRL ENSG00000129535 -162091 phenotype -162095 gene 5764 PTN ENSG00000105894 -162096 gene 4192 MDK ENSG00000110492 -162100 phenotype -162150 gene 5122 PCSK1 ENSG00000175426 -162151 gene 5126 PCSK2 ENSG00000125851 -162200 phenotype -162210 phenotype -162220 moved/removed -162230 gene 4744 NEFH ENSG00000100285 -162240 predominantly phenotypes -162250 gene 4741 NEFM ENSG00000104722 -162260 predominantly phenotypes -162270 predominantly phenotypes -162280 gene 4747 NEFL ENSG00000277586 -162300 phenotype -162320 gene 6863 TAC1 ENSG00000006128 -162321 gene 6865 TACR2 ENSG00000075073 -162323 gene 6869 TACR1 ENSG00000115353 -162330 gene 6866 TAC3 ENSG00000166863 -162332 gene 6870 TACR3 ENSG00000169836 -162340 gene 4828 NMB ENSG00000197696 -162341 gene 4829 NMBR ENSG00000135577 -162350 phenotype -162360 gene 4807 NHLH1 ENSG00000171786 -162361 gene 4808 NHLH2 ENSG00000177551 -162370 phenotype -162375 moved/removed -162380 predominantly phenotypes -162400 phenotype -162500 phenotype -162600 predominantly phenotypes -162640 gene 4852 NPY ENSG00000122585 -162641 gene 4886 NPY1R ENSG00000164128 -162642 gene 4887 NPY2R ENSG00000185149 -162643 gene 7852 CXCR4 ENSG00000121966 -162650 gene 4922 NTS ENSG00000133636 -162651 gene 4923 NTSR1 ENSG00000101188 -162660 gene 4908 NTF3 ENSG00000185652 -162661 moved/removed -162662 gene 4909 NTF4 ENSG00000225950 -162700 phenotype -162800 phenotype -162815 gene 566 AZU1 ENSG00000172232 -162820 moved/removed -162830 phenotype -162860 gene 57126 CD177 ENSG00000204936 -162870 moved/removed -162880 predominantly phenotypes -162890 gene -162900 phenotype -163000 phenotype -163050 predominantly phenotypes -163100 phenotype -163200 phenotype -163260 gene 4779 NFE2L1 ENSG00000082641 -163400 phenotype -163500 phenotype -163600 predominantly phenotypes -163700 phenotype -163728 moved/removed -163729 gene/phenotype 4846 NOS3 ENSG00000164867 -163730 gene 4843 NOS2 ENSG00000007171 -163731 gene 4842 NOS1 ENSG00000089250 -163800 phenotype -163850 predominantly phenotypes -163890 gene 6622 SNCA ENSG00000145335 -163900 moved/removed -163905 gene 3146 HMGB1 ENSG00000189403 -163906 gene 3148 HMGB2 ENSG00000164104 -163910 gene 3151 HMGN2 ENSG00000198830 -163920 gene 3150 HMGN1 ENSG00000205581 -163950 phenotype -163955 moved/removed -163970 gene 6530 SLC6A2 ENSG00000103546 -163980 gene 4680 CEACAM6 ENSG00000086548 -164000 predominantly phenotypes -164005 gene 4784 NFIX ENSG00000008441 -164008 gene 4792 NFKBIA ENSG00000100906 -164009 gene 4926 NUMA1 ENSG00000137497 -164010 gene 5119 CHMP1A ENSG00000131165 -164011 gene 4790 NFKB1 ENSG00000109320 -164012 gene 4791 NFKB2 ENSG00000077150 -164013 gene 4798 NFRKB ENSG00000170322 -164014 gene 5970 RELA ENSG00000173039 -164015 gene 9782 MATR3 ENSG00000015479 -164016 moved/removed -164017 gene 3178 HNRNPA1 ENSG00000135486 -164018 moved/removed -164019 moved/removed -164020 gene 3183 HNRNPC ENSG00000092199 -164021 moved/removed -164022 moved/removed -164031 gene 4839 NOP2 ENSG00000111641 -164035 gene 4691 NCL ENSG00000115053 -164040 gene 4869 NPM1 ENSG00000181163 -164050 gene 4860 PNP ENSG00000198805 -164060 gene 4673 NAP1L1 ENSG00000187109 -164100 phenotype 4933 -164150 phenotype -164160 gene 3952 LEP ENSG00000174697 -164170 phenotype -164175 gene 5451 POU2F1 ENSG00000143190 -164176 gene 5452 POU2F2 ENSG00000028277 -164177 gene 5460 POU5F1 ENSG00000204531 -164180 predominantly phenotypes -164185 predominantly phenotypes -164190 predominantly phenotypes -164200 phenotype -164210 phenotype -164220 phenotype -164230 phenotype -164280 phenotype -164300 phenotype -164310 phenotype -164320 gene 29991 OBP2A ENSG00000122136 -164330 predominantly phenotypes -164340 gene 4975 OMP ENSG00000254550 -164342 gene 4991 OR1D2 ENSG00000184166 -164343 gene 1879 EBF1 ENSG00000164330 -164345 gene 4974 OMG ENSG00000126861 -164350 gene 4938 OAS1 ENSG00000089127 -164360 gene 498 ATP5F1A ENSG00000152234 -164400 phenotype -164500 phenotype -164600 moved/removed -164680 predominantly phenotypes -164690 gene 27 ABL2 ENSG00000143322 -164700 moved/removed -164710 moved/removed -164720 gene 2113 ETS1 ENSG00000134954 -164730 gene 207 AKT1 ENSG00000142208 -164731 gene 208 AKT2 ENSG00000105221 -164740 gene 2114 ETS2 ENSG00000157557 -164745 phenotype -164750 phenotype -164755 gene 7435 VIS1 -164756 moved/removed -164757 gene 673 BRAF ENSG00000157764 -164759 moved/removed -164760 gene 5894 RAF1 ENSG00000132155 -164761 gene 5979 RET ENSG00000165731 -164762 gene 1398 CRK ENSG00000167193 -164765 gene 2017 CTTN ENSG00000085733 -164770 gene 1436 CSF1R ENSG00000182578 -164772 gene 2354 FOSB ENSG00000125740 -164780 gene 6497 SKI ENSG00000157933 -164785 gene 4193 MDM2 ENSG00000135679 -164790 gene 4893 NRAS ENSG00000213281 -164795 gene 654231 OCM ENSG00000122543 -164800 phenotype -164810 gene 2353 FOS ENSG00000170345 -164820 gene 7471 WNT1 ENSG00000125084 -164830 moved/removed -164831 gene 648 BMI1 ENSG00000168283 -164840 gene 4613 MYCN ENSG00000134323 -164850 gene 4610 MYCL ENSG00000116990 -164860 gene 4233 MET ENSG00000105976 -164865 gene -164870 gene 2064 ERBB2 ENSG00000141736 -164873 gene 2117 ETV3 ENSG00000117036 -164874 gene 2290 FOXG1 ENSG00000176165 -164875 gene 7409 VAV1 ENSG00000141968 -164880 gene 7525 YES1 ENSG00000176105 -164891 moved/removed -164900 phenotype -164905 moved/removed -164910 gene 5966 REL ENSG00000162924 -164920 gene 3815 KIT ENSG00000157404 -164940 gene 2268 FGR ENSG00000000938 -164950 gene 2248 FGF3 ENSG00000186895 -164951 gene 4855 NOTCH4 ENSG00000204301 -164953 gene 8177 -164958 gene 4856 CCN3 ENSG00000136999 -164960 gene 5292 PIM1 ENSG00000137193 -164970 moved/removed -164975 gene 7474 WNT5A ENSG00000114251 -164980 gene 2249 FGF4 ENSG00000075388 -165000 phenotype -165010 moved/removed -165020 gene 6098 ROS1 ENSG00000047936 -165040 gene 4218 RAB8A ENSG00000167461 -165060 gene 7234 TRU-TCA1-1 -165070 gene 2321 FLT1 ENSG00000102755 -165080 gene 2078 ERG ENSG00000157554 -165090 gene 6237 RRAS ENSG00000126458 -165095 gene 5008 OSM ENSG00000099985 -165098 predominantly phenotypes -165110 gene 6395 SEA -165120 gene 4067 LYN ENSG00000254087 -165140 gene 5820 PVT1 ENSG00000249859 -165150 predominantly phenotypes -165160 gene 3725 JUN ENSG00000177606 -165161 gene 3726 JUNB ENSG00000171223 -165162 gene 3727 JUND ENSG00000130522 -165170 gene 6688 SPI1 ENSG00000066336 -165180 gene 4142 MAS1 ENSG00000130368 -165190 gene 2250 FGF5 ENSG00000138675 -165195 gene 4985 OPRD1 ENSG00000116329 -165196 gene 4986 OPRK1 ENSG00000082556 -165199 predominantly phenotypes -165200 predominantly phenotypes -165210 predominantly phenotypes -165215 gene 2122 MECOM ENSG00000085276 -165220 gene 2735 GLI1 ENSG00000111087 -165230 gene 2736 GLI2 ENSG00000074047 -165240 gene 2737 GLI3 ENSG00000106571 -165250 gene 284459 ZNF875 ENSG00000181666 -165260 gene 342945 ZSCAN22 ENSG00000182318 -165270 gene 3104 ZBTB48 ENSG00000204859 -165280 gene 2738 GLI4 ENSG00000250571 -165290 predominantly phenotypes -165300 phenotype -165320 gene -165330 gene 7473 WNT3 ENSG00000108379 -165340 gene 6498 SKIL ENSG00000136603 -165350 moved/removed -165360 gene 867 CBL ENSG00000110395 -165370 gene 388 RHOB ENSG00000143878 -165380 gene 389 RHOC ENSG00000155366 -165390 gene 387 RHOA ENSG00000067560 -165490 moved/removed -165500 phenotype -165510 phenotype -165550 phenotype -165590 predominantly phenotypes -165600 predominantly phenotypes -165630 moved/removed -165635 moved/removed -165640 gene 4953 ODC1 ENSG00000115758 -165650 moved/removed -165660 phenotype -165670 predominantly phenotypes -165680 predominantly phenotypes -165700 phenotype -165720 phenotype -165800 phenotype -166000 phenotype -166200 phenotype -166210 phenotype -166220 phenotype -166230 predominantly phenotypes -166240 moved/removed -166250 phenotype -166260 phenotype -166300 phenotype -166350 phenotype -166400 predominantly phenotypes -166450 predominantly phenotypes -166490 gene 6696 SPP1 ENSG00000118785 -166500 moved/removed -166600 phenotype -166700 phenotype -166705 predominantly phenotypes -166710 phenotype -166720 moved/removed -166740 predominantly phenotypes -166750 phenotype -166760 phenotype -166780 phenotype -166800 phenotype 5012 -166900 phenotype -166910 predominantly phenotypes -166945 gene 4077 NBR1 ENSG00000188554 -166950 predominantly phenotypes -166970 predominantly phenotypes -166990 predominantly phenotypes -167000 phenotype -167030 phenotype -167040 gene 5007 OSBP ENSG00000110048 -167050 gene 5020 OXT ENSG00000101405 -167055 gene 5021 OXTR ENSG00000180914 -167100 phenotype -167200 phenotype -167210 phenotype -167220 predominantly phenotypes -167250 phenotype -167300 predominantly phenotypes -167320 phenotype -167400 phenotype -167405 gene 5046 PCSK6 ENSG00000140479 -167409 gene 5076 PAX2 ENSG00000075891 -167410 gene 5081 PAX7 ENSG00000009709 -167411 gene 5075 PAX1 ENSG00000125813 -167413 gene 5078 PAX4 ENSG00000106331 -167414 gene 5079 PAX5 ENSG00000196092 -167415 gene 7849 PAX8 ENSG00000125618 -167416 gene 5083 PAX9 ENSG00000198807 -167420 gene 5396 PRRX1 ENSG00000116132 -167500 phenotype -167600 predominantly phenotypes -167700 predominantly phenotypes -167730 phenotype -167750 predominantly phenotypes -167755 predominantly phenotypes -167770 gene 5967 REG1A ENSG00000115386 -167771 gene 5968 REG1B ENSG00000172023 -167780 gene 5539 PPY ENSG00000108849 -167790 gene 6690 SPINK1 ENSG00000164266 -167800 phenotype -167805 gene 5068 REG3A ENSG00000172016 -167850 predominantly phenotypes -167870 phenotype 387572 -167900 phenotype -167950 predominantly phenotypes -167959 predominantly phenotypes 3260 HPV18I1 -167960 predominantly phenotypes 3261 HPV18I2 -168000 phenotype -168100 predominantly phenotypes -168200 predominantly phenotypes -168300 phenotype -168350 moved/removed -168360 gene 1996 ELAVL4 ENSG00000162374 -168400 phenotype -168440 gene 5763 PTMS ENSG00000159335 -168450 gene 5741 PTH ENSG00000152266 -168460 moved/removed -168461 gene 595 CCND1 ENSG00000110092 -168468 gene 5745 PTH1R ENSG00000160801 -168470 gene 5744 PTHLH ENSG00000087494 -168500 phenotype -168550 phenotype -168600 phenotype -168601 phenotype -168605 phenotype -168610 moved/removed -168710 predominantly phenotypes -168730 gene 5554 PRH1 ENSG00000231887 -168790 gene 5555 PRH2 ENSG00000134551 -168800 predominantly phenotypes -168810 gene 653247 PRB2 ENSG00000121335 -168820 gene/phenotype 5444 PON1 ENSG00000005421 -168830 predominantly phenotypes -168840 gene 5544 PRB3 ENSG00000197870 -168850 moved/removed -168860 phenotype 8830 -168885 predominantly phenotypes -168890 gene 5816 PVALB ENSG00000100362 -168900 phenotype -169000 phenotype -169100 phenotype -169150 phenotype -169170 predominantly phenotypes -169190 gene 5129 CDK18 ENSG00000117266 -169200 predominantly phenotypes -169300 predominantly phenotypes -169400 phenotype -169500 phenotype -169545 phenotype -169550 predominantly phenotypes -169600 phenotype -169610 predominantly phenotypes -169615 gene 1830 DSG3 ENSG00000134757 -169700 gene -169710 predominantly phenotypes 643834 PGA3 ENSG00000229859 -169720 gene 643847 PGA4 ENSG00000229183 -169730 gene 5222 PGA5 ENSG00000256713 -169740 gene 5225 PGC ENSG00000096088 -169800 gene 55748 CNDP2 ENSG00000133313 -169900 gene 5182 PEPB -170000 gene 5183 PEPC -170100 phenotype -170200 gene 5185 PEPE -170250 gene 51056 LAP3 ENSG00000002549 -170260 gene 6890 TAP1 ENSG00000168394 -170261 gene 6891 TAP2 ENSG00000204267 -170270 gene 5066 PAM ENSG00000145730 -170280 gene 5551 PRF1 ENSG00000180644 -170285 gene 79902 NUP85 ENSG00000125450 -170290 gene 5346 PLIN1 ENSG00000166819 -170300 moved/removed -170390 phenotype -170400 phenotype -170500 phenotype -170600 predominantly phenotypes -170650 phenotype -170700 predominantly phenotypes -170710 gene 5630 PRPH ENSG00000135406 -170715 gene 5375 PMP2 ENSG00000147588 -170900 predominantly phenotypes -170950 moved/removed -170980 predominantly phenotypes -170990 predominantly phenotypes -170993 gene 5828 PEX2 ENSG00000164751 -170995 gene 5825 ABCD3 ENSG00000117528 -170998 gene/phenotype 5465 PPARA ENSG00000186951 -171000 phenotype -171050 gene 5243 ABCB1 ENSG00000085563 -171060 gene 5244 ABCB4 ENSG00000005471 -171100 predominantly phenotypes -171150 gene 6817 SULT1A1 ENSG00000196502 -171190 gene 5409 PNMT ENSG00000141744 -171200 phenotype -171300 phenotype -171350 moved/removed -171400 phenotype -171420 predominantly phenotypes -171450 predominantly phenotypes -171480 predominantly phenotypes -171490 gene 5132 PDC ENSG00000116703 -171500 gene 52 ACP1 ENSG00000143727 -171640 gene 54 ACP5 ENSG00000102575 -171650 gene 53 ACP2 ENSG00000134575 -171660 predominantly phenotypes -171700 moved/removed -171720 phenotype 100196909 -171740 gene 248 ALPI ENSG00000163295 -171750 gene -171760 gene 249 ALPL ENSG00000162551 -171790 gene 55 ACP3 ENSG00000014257 -171800 gene 250 ALPP ENSG00000163283 -171810 gene 251 ALPG ENSG00000163286 -171820 gene -171830 gene -171833 gene 5295 PIK3R1 ENSG00000145675 -171834 gene 5290 PIK3CA ENSG00000121879 -171835 gene 5208 PFKFB2 ENSG00000123836 -171840 gene 5214 PFKP ENSG00000067057 -171850 moved/removed -171860 gene 5211 PFKL ENSG00000141959 -171880 moved/removed -171885 gene 5150 PDE7A ENSG00000205268 -171890 gene 5136 PDE1A ENSG00000115252 -171891 gene 5153 PDE1B ENSG00000123360 -171900 gene 5236 PGM1 ENSG00000079739 -172000 gene 55276 PGM2 ENSG00000169299 -172100 gene 5238 PGM3 ENSG00000013375 -172110 predominantly phenotypes -172150 phenotype -172200 gene 5226 PGD ENSG00000142657 -172250 gene 5223 PGAM1 ENSG00000171314 -172270 gene 5232 PGK2 ENSG00000170950 -172280 gene 283871 PGP ENSG00000184207 -172290 predominantly phenotypes -172300 moved/removed -172400 gene 2821 GPI ENSG00000105220 -172405 gene 5350 PLN ENSG00000198523 -172410 gene 5319 PLA2G1B ENSG00000170890 -172411 gene 5320 PLA2G2A ENSG00000188257 -172420 gene 5335 PLCG1 ENSG00000124181 -172425 gene/phenotype 5360 PLTP ENSG00000100979 -172430 gene 2023 ENO1 ENSG00000074800 -172439 gene 10606 PAICS ENSG00000128050 -172450 gene 5471 PPAT ENSG00000128059 -172460 gene 4522 MTHFD1 ENSG00000100714 -172470 gene 5260 PHKG1 ENSG00000164776 -172471 gene 5261 PHKG2 ENSG00000156873 -172480 gene 5723 PSPH ENSG00000146733 -172490 gene 5257 PHKB ENSG00000102893 -172500 predominantly phenotypes -172700 phenotype -172800 phenotype -172850 predominantly phenotypes -172860 gene 5176 SERPINF1 ENSG00000132386 -172870 phenotype -172880 predominantly phenotypes -172900 phenotype -173000 predominantly phenotypes -173100 phenotype -173110 gene 5449 POU1F1 ENSG00000064835 -173120 gene 6447 SCG5 ENSG00000166922 -173200 phenotype -173310 gene 5047 PAEP ENSG00000122133 -173320 gene 6050 RNH1 ENSG00000023191 -173321 gene 5269 SERPINB6 ENSG00000124570 -173325 gene 3728 JUP ENSG00000173801 -173335 gene 5167 ENPP1 ENSG00000197594 -173340 gene 5343 PLGLB1 ENSG00000183281 -173350 gene 5340 PLG ENSG00000122194 -173360 gene 5054 SERPINE1 ENSG00000106366 -173370 gene 5327 PLAT ENSG00000104368 -173390 gene 5055 SERPINB2 ENSG00000197632 -173391 gene 5329 PLAUR ENSG00000011422 -173393 gene 5724 PTAFR ENSG00000169403 -173395 predominantly phenotypes -173400 predominantly phenotypes -173410 gene 5159 PDGFRB ENSG00000113721 -173420 predominantly phenotypes -173430 gene 5154 PDGFA ENSG00000197461 -173445 gene 5175 PECAM1 ENSG00000261371 -173450 predominantly phenotypes -173460 gene 5196 PF4 ENSG00000163737 -173461 gene 5197 PF4V1 ENSG00000109272 -173470 gene 3690 ITGB3 ENSG00000259207 -173490 gene 5156 PDGFRA ENSG00000134853 -173500 phenotype -173510 gene 948 CD36 ENSG00000135218 -173511 gene 2814 GP5 ENSG00000178732 -173515 gene 2815 GP9 ENSG00000169704 -173540 phenotype -173560 predominantly phenotypes -173570 gene 5341 PLEK ENSG00000115956 -173580 predominantly phenotypes -173590 predominantly phenotypes -173600 phenotype -173610 gene 6403 SELP ENSG00000174175 -173650 phenotype -173700 predominantly phenotypes -173750 moved/removed -173800 phenotype -173850 gene 5817 PVR ENSG00000073008 -173865 moved/removed -173870 gene 142 PARP1 ENSG00000143799 -173871 moved/removed -173880 gene 5284 PIGR ENSG00000162896 -173900 phenotype -173910 gene 5311 PKD2 ENSG00000118762 -174000 phenotype -174050 phenotype -174100 moved/removed -174200 phenotype -174300 phenotype -174310 predominantly phenotypes -174400 phenotype -174500 phenotype -174600 phenotype -174700 phenotype -174750 predominantly phenotypes 2522 -174760 gene 5423 POLB ENSG00000070501 -174761 gene 5424 POLD1 ENSG00000062822 -174762 gene 5426 POLE ENSG00000177084 -174763 gene 5428 POLG ENSG00000140521 -174770 phenotype -174800 phenotype -174810 phenotype -174880 gene -174900 phenotype -175000 moved/removed -175020 moved/removed -175050 phenotype -175100 phenotype -175200 phenotype -175400 predominantly phenotypes -175450 predominantly phenotypes -175500 predominantly phenotypes -175505 moved/removed -175510 phenotype -175690 phenotype -175700 phenotype -175750 predominantly phenotypes -175780 phenotype -175800 phenotype -175850 phenotype 100196910 -175860 phenotype -175900 phenotype -176000 phenotype -176010 moved/removed -176090 predominantly phenotypes -176100 phenotype -176200 phenotype -176240 predominantly phenotypes -176250 predominantly phenotypes -176256 gene 3747 KCNC2 ENSG00000166006 -176257 gene 3742 KCNA6 ENSG00000151079 -176258 gene 3746 KCNC1 ENSG00000129159 -176260 gene 3736 KCNA1 ENSG00000111262 -176261 gene 3753 KCNE1 ENSG00000180509 -176262 gene 3737 KCNA2 ENSG00000177301 -176263 gene 3738 KCNA3 ENSG00000177272 -176264 gene 3748 KCNC3 ENSG00000131398 -176265 gene 3749 KCNC4 ENSG00000116396 -176266 gene 3739 KCNA4 ENSG00000182255 -176267 gene 3741 KCNA5 ENSG00000130037 -176268 gene 3743 KCNA7 ENSG00000104848 -176269 moved/removed -176270 phenotype -176290 gene 8788 DLK1 ENSG00000185559 -176300 gene 7276 TTR ENSG00000118271 -176305 phenotype -176310 gene 5087 PBX1 ENSG00000185630 -176311 gene 5089 PBX2 ENSG00000204304 -176312 gene 5090 PBX3 ENSG00000167081 -176385 gene 5069 PAPPA ENSG00000182752 -176390 gene 5669 PSG1 ENSG00000231924 -176391 gene 5670 PSG2 ENSG00000242221 -176392 gene 5671 PSG3 ENSG00000221826 -176393 gene 5672 PSG4 ENSG00000243137 -176394 gene 5673 PSG5 ENSG00000204941 -176395 gene 5675 PSG6 ENSG00000170848 -176396 gene 5676 PSG7 ENSG00000221878 -176397 gene 440533 PSG8 ENSG00000124467 -176398 gene 5678 PSG9 ENSG00000183668 -176399 gene 653492 PSG10P -176400 phenotype -176401 gene 5680 PSG11 ENSG00000243130 -176410 phenotype -176420 gene 5858 PZP ENSG00000126838 -176430 phenotype -176440 moved/removed -176450 phenotype -176500 phenotype -176590 gene 5217 PFN2 ENSG00000070087 -176600 predominantly phenotypes -176610 gene 5216 PFN1 ENSG00000108518 -176620 predominantly phenotypes -176630 predominantly phenotypes -176635 gene 5557 PRIM1 ENSG00000198056 -176636 gene 5558 PRIM2 ENSG00000146143 -176640 gene 5621 PRNP ENSG00000171867 -176670 phenotype -176680 moved/removed -176690 phenotype -176700 phenotype -176705 gene 5245 PHB1 ENSG00000167085 -176710 gene 5033 P4HA1 ENSG00000122884 -176720 gene 5304 PIP ENSG00000159763 -176730 gene 3630 INS ENSG00000254647 -176740 gene 5111 PCNA ENSG00000132646 -176741 gene 4288 MKI67 ENSG00000148773 -176760 gene 5617 PRL ENSG00000172179 -176761 gene 5618 PRLR ENSG00000113494 -176763 gene 5052 PRDX1 ENSG00000117450 -176770 predominantly phenotypes 8039 -176780 phenotype 100312952 -176785 gene 5547 PRCP ENSG00000137509 -176790 gene 5034 P4HB ENSG00000185624 -176793 gene 5369 PMCHL1 ENSG00000168967 -176794 gene 5370 PMCHL2 ENSG00000169040 -176795 gene 5367 PMCH ENSG00000183395 -176797 gene 7704 ZBTB16 ENSG00000109906 -176800 predominantly phenotypes -176801 gene 5660 PSAP ENSG00000197746 -176802 gene 5731 PTGER1 ENSG00000160951 -176803 gene 5730 PTGDS ENSG00000107317 -176804 gene 5732 PTGER2 ENSG00000125384 -176805 gene 5742 PTGS1 ENSG00000095303 -176806 gene 5733 PTGER3 ENSG00000050628 -176807 phenotype -176820 gene 354 KLK3 ENSG00000142515 -176830 gene 5443 POMC ENSG00000115138 -176842 gene 5683 PSMA2 ENSG00000106588 -176843 gene 5684 PSMA3 ENSG00000100567 -176844 gene 5686 PSMA5 ENSG00000143106 -176845 gene -176846 gene 5685 PSMA4 ENSG00000041357 -176847 gene 5699 PSMB10 ENSG00000205220 -176851 gene 5110 PCMT1 ENSG00000120265 -176860 phenotype -176870 gene 259 AMBP ENSG00000106927 -176871 gene 5610 EIF2AK2 ENSG00000055332 -176872 gene 5604 MAP2K1 ENSG00000169032 -176873 gene 984 CDK11B ENSG00000248333 -176874 moved/removed -176875 gene 5499 PPP1CA ENSG00000172531 -176876 gene 5781 PTPN11 ENSG00000179295 -176877 gene 5774 PTPN3 ENSG00000070159 -176878 gene 5775 PTPN4 ENSG00000088179 -176879 gene 84867 PTPN5 ENSG00000110786 -176880 gene 5627 PROS1 ENSG00000184500 -176882 gene 5787 PTPRB ENSG00000127329 -176883 gene 5777 PTPN6 ENSG00000111679 -176884 gene 5786 PTPRA ENSG00000132670 -176885 gene 5770 PTPN1 ENSG00000196396 -176886 gene 5793 PTPRG ENSG00000144724 -176887 gene 5771 PTPN2 ENSG00000175354 -176888 gene 5797 PTPRM ENSG00000173482 -176889 gene 5778 PTPN7 ENSG00000143851 -176891 gene 5803 PTPRZ1 ENSG00000106278 -176892 gene 5567 PRKACB ENSG00000142875 -176893 gene 5568 PRKACG ENSG00000165059 -176894 gene 5592 PRKG1 ENSG00000185532 -176895 gene 8858 PROZ ENSG00000126231 -176900 predominantly phenotypes -176910 gene 5576 PRKAR2A ENSG00000114302 -176911 gene 5575 PRKAR1B ENSG00000188191 -176912 gene 5577 PRKAR2B ENSG00000005249 -176914 gene 5501 PPP1CC ENSG00000186298 -176915 gene 5515 PPP2CA ENSG00000113575 -176916 gene 5516 PPP2CB ENSG00000104695 -176920 phenotype -176930 gene 2147 F2 ENSG00000180210 -176940 gene 6271 S100A1 ENSG00000160678 -176941 gene 7297 TYK2 ENSG00000105397 -176942 gene 2241 FER ENSG00000151422 -176943 gene 2263 FGFR2 ENSG00000066468 -176944 moved/removed -176945 gene 2046 EPHA8 ENSG00000070886 -176946 gene 1969 EPHA2 ENSG00000142627 -176947 gene 7535 ZAP70 ENSG00000115085 -176948 gene 5594 MAPK1 ENSG00000100030 -176949 gene 5596 MAPK4 ENSG00000141639 -176950 moved/removed -176960 gene 5578 PRKCA ENSG00000154229 -176970 gene 5579 PRKCB ENSG00000166501 -176975 gene 5581 PRKCE ENSG00000171132 -176977 gene 5580 PRKCD ENSG00000163932 -176980 gene 5582 PRKCG ENSG00000126583 -176981 gene 10399 RACK1 ENSG00000204628 -176982 gene 5590 PRKCZ ENSG00000067606 -176990 gene 6285 S100B ENSG00000160307 -176991 gene 6276 S100A5 ENSG00000196420 -176992 gene 6274 S100A3 ENSG00000188015 -176993 gene 6273 S100A2 ENSG00000196754 -177000 phenotype -177010 gene 5270 SERPINE2 ENSG00000135919 -177015 gene 5681 PSKH1 ENSG00000159792 -177020 gene 5657 PRTN3 ENSG00000196415 -177030 moved/removed -177040 gene 5552 SRGN ENSG00000122862 -177045 gene 5698 PSMB9 ENSG00000240065 -177046 gene 5696 PSMB8 ENSG00000204264 -177050 phenotype -177060 gene 5589 PRKCSH ENSG00000130175 -177061 gene 4082 MARCKS ENSG00000277443 -177070 gene 2038 EPB42 ENSG00000166947 -177075 gene 4094 MAF ENSG00000178573 -177100 predominantly phenotypes -177150 moved/removed -177170 phenotype -177200 phenotype -177300 predominantly phenotypes -177350 predominantly phenotypes -177400 gene 590 BCHE ENSG00000114200 -177500 moved/removed -177600 predominantly phenotypes -177650 phenotype -177700 phenotype -177720 moved/removed -177735 phenotype -177750 phenotype -177800 predominantly phenotypes -177820 phenotype -177850 phenotype -177860 moved/removed -177900 phenotype -177980 phenotype -177990 predominantly phenotypes -178000 predominantly phenotypes -178110 phenotype -178200 phenotype -178300 phenotype 5765 -178330 predominantly phenotypes -178350 phenotype -178370 predominantly phenotypes -178400 predominantly phenotypes -178500 phenotype -178550 predominantly phenotypes -178600 phenotype -178610 predominantly phenotypes -178620 gene 6440 SFTPC ENSG00000168484 -178630 gene 653509 SFTPA1 ENSG00000122852 -178635 gene 6441 SFTPD ENSG00000133661 -178640 gene 6439 SFTPB ENSG00000168878 -178642 gene 729238 SFTPA2 ENSG00000185303 -178650 predominantly phenotypes -178651 predominantly phenotypes -178800 predominantly phenotypes -178900 predominantly phenotypes -178990 gene 4316 MMP7 ENSG00000137673 -178995 predominantly phenotypes -179000 predominantly phenotypes -179010 phenotype -179020 gene 8566 PDXK ENSG00000160209 -179030 gene 5464 PPA1 ENSG00000180817 -179035 gene 5831 PYCR1 ENSG00000183010 -179040 moved/removed -179050 gene 5315 PKM ENSG00000067225 -179060 gene 5162 PDHB ENSG00000168291 -179061 gene 5161 PDHA2 ENSG00000163114 -179080 gene 5876 RABGGTB ENSG00000137955 -179090 moved/removed -179095 gene 7320 UBE2B ENSG00000119048 -179200 phenotype -179250 predominantly phenotypes -179270 predominantly phenotypes -179280 predominantly phenotypes -179300 phenotype -179400 predominantly phenotypes -179410 gene 5962 RDX ENSG00000137710 -179450 predominantly phenotypes 7937 -179490 gene 5864 RAB3A ENSG00000105649 -179500 predominantly phenotypes -179502 gene 5910 RAP1GDS1 ENSG00000138698 -179503 gene 6236 RRAD ENSG00000166592 -179505 gene 391 RHOG ENSG00000177105 -179508 gene 5861 RAB1A ENSG00000138069 -179509 gene 5862 RAB2A ENSG00000104388 -179510 gene 5865 RAB3B ENSG00000169213 -179511 gene 5867 RAB4A ENSG00000168118 -179512 gene 5868 RAB5A ENSG00000144566 -179513 gene 5870 RAB6A ENSG00000175582 -179514 gene 5869 RAB5B ENSG00000111540 -179520 gene 5906 RAP1A ENSG00000116473 -179530 gene 5908 RAP1B ENSG00000127314 -179540 gene 5911 RAP2A ENSG00000125249 -179541 gene 5912 RAP2B ENSG00000181467 -179550 gene 5898 RALA ENSG00000006451 -179551 gene 5899 RALB ENSG00000144118 -179555 gene 6251 RSU1 ENSG00000148484 -179590 gene 5792 PTPRF ENSG00000142949 -179600 phenotype -179605 gene 5961 PRPH2 ENSG00000112619 -179610 gene 2041 EPHA1 ENSG00000146904 -179611 gene 2042 EPHA3 ENSG00000044524 -179613 phenotype -179615 gene 5896 RAG1 ENSG00000166349 -179616 gene 5897 RAG2 ENSG00000175097 -179617 gene 5888 RAD51 ENSG00000051180 -179618 gene 5957 RCVRN ENSG00000109047 -179620 phenotype -179650 phenotype -179700 phenotype -179710 gene 1104 RCC1 ENSG00000180198 -179715 moved/removed -179730 gene 6013 RLN1 ENSG00000107018 -179740 gene 6019 RLN2 ENSG00000107014 -179755 gene 5546 PRCC ENSG00000143294 -179760 moved/removed -179770 moved/removed -179780 gene 1800 DPEP1 ENSG00000015413 -179800 phenotype -179820 gene 5972 REN ENSG00000143839 -179830 predominantly phenotypes -179835 gene 6117 RPA1 ENSG00000132383 -179836 gene 6118 RPA2 ENSG00000117748 -179837 gene 6119 RPA3 ENSG00000106399 -179838 gene 6249 CLIP1 ENSG00000130779 -179840 predominantly phenotypes -179850 phenotype -179900 phenotype -180000 phenotype -180020 phenotype 5953 -180040 gene 343035 RD3 ENSG00000198570 -180050 phenotype -180060 moved/removed -180069 gene 6121 RPE65 ENSG00000116745 -180070 moved/removed -180071 gene 5145 PDE6A ENSG00000132915 -180072 gene 5158 PDE6B ENSG00000133256 -180073 gene 5148 PDE6G ENSG00000185527 -180080 predominantly phenotypes -180090 gene 6017 RLBP1 ENSG00000140522 -180100 phenotype -180102 moved/removed -180103 moved/removed -180104 phenotype -180105 phenotype -180190 gene 5916 RARG ENSG00000172819 -180200 phenotype -180201 gene 5926 ARID4A ENSG00000032219 -180202 gene 5927 KDM5A ENSG00000073614 -180203 gene 5934 RBL2 ENSG00000103479 -180210 predominantly phenotypes -180220 gene 5915 RARB ENSG00000077092 -180230 gene 1381 CRABP1 ENSG00000166426 -180231 gene 1382 CRABP2 ENSG00000143320 -180240 gene 5914 RARA ENSG00000131759 -180245 gene 6256 RXRA ENSG00000186350 -180246 gene 6257 RXRB ENSG00000204231 -180247 gene 6258 RXRG ENSG00000143171 -180250 gene 5950 RBP4 ENSG00000138207 -180260 gene 5947 RBP1 ENSG00000114115 -180270 predominantly phenotypes -180280 gene 5948 RBP2 ENSG00000114113 -180290 gene 5949 RBP3 ENSG00000265203 -180295 phenotype -180297 gene 6005 RHAG ENSG00000112077 -180300 phenotype -180330 moved/removed -180350 predominantly phenotypes -180360 predominantly phenotypes -180370 gene 7263 TST ENSG00000128311 -180380 gene 6010 RHO ENSG00000163914 -180381 gene 6011 GRK1 ENSG00000185974 -180385 gene 4005 LMO2 ENSG00000135363 -180386 gene 55885 LMO3 ENSG00000048540 -180390 gene 6241 RRM2 ENSG00000171848 -180410 gene 6240 RRM1 ENSG00000167325 -180420 gene -180430 gene 22934 RPIA ENSG00000153574 -180435 gene 6041 RNASEL ENSG00000135828 -180440 gene 6035 RNASE1 ENSG00000129538 -180450 gene 6052 RNR1 -180451 gene 6053 RNR2 -180452 gene 6054 RNR3 -180453 gene 6055 RNR4 -180454 gene 6056 RNR5 -180460 gene 6194 RPS6 ENSG00000137154 -180461 moved/removed -180462 moved/removed -180463 gene 6225 RPS20P3 -180464 gene 6226 RPS20P4 -180465 gene 6230 RPS25 ENSG00000118181 -180466 gene 6143 RPL19 ENSG00000108298 -180467 gene 6156 RPL30 ENSG00000156482 -180468 gene 6165 RPL35A ENSG00000182899 -180469 gene 6166 RPL36AL ENSG00000165502 -180470 gene 6184 RPN1 ENSG00000163902 -180471 gene 6205 RPS11 ENSG00000142534 -180472 gene 6218 RPS17 ENSG00000182774 -180473 gene 6222 RPS18 ENSG00000231500 -180474 gene 6146 RPL22 ENSG00000116251 -180475 gene 6136 RPL12 ENSG00000197958 -180476 gene 6207 RPS13 ENSG00000110700 -180477 gene 6227 RPS21 ENSG00000171858 -180478 gene 6189 RPS3A ENSG00000145425 -180479 gene 6124 RPL4 ENSG00000174444 -180480 gene 6120 RPE ENSG00000197713 -180490 gene 6185 RPN2 ENSG00000118705 -180500 phenotype -180510 gene 6175 RPLP0 ENSG00000089157 -180520 gene 6176 RPLP1 ENSG00000137818 -180530 gene 6181 RPLP2 ENSG00000177600 -180535 gene 6209 RPS15 ENSG00000115268 -180540 moved/removed -180550 phenotype -180600 phenotype -180610 gene 6018 RLF ENSG00000117000 -180620 gene 7212 TRX-CAT2-1 -180621 gene 7210 TRX-CAT1-2 -180630 gene 1655 DDX5 ENSG00000108654 -180640 gene 7193 TRE-TTC3-1 -180645 gene 6080 SNORA73A ENSG00000274266 -180646 gene 6044 SNORA62 ENSG00000202363 -180647 gene 6043 SNORA63 ENSG00000200320 -180660 gene 5430 POLR2A ENSG00000181222 -180661 gene 5431 POLR2B ENSG00000047315 -180662 gene 5438 POLR2I ENSG00000105258 -180663 gene 5432 POLR2C ENSG00000102978 -180664 gene 5434 POLR2E ENSG00000099817 -180670 gene -180680 gene 6060 RNU1-4 ENSG00000207389 -180690 gene 6066 RNU2-1 ENSG00000274585 -180691 gene 26831 RNU5A-1 ENSG00000199568 -180692 gene 26827 RNU6-1 ENSG00000206625 -180700 phenotype -180710 gene 780851 SNORD3A -180720 moved/removed -180721 gene 6094 ROM1 ENSG00000149489 -180730 predominantly phenotypes -180740 gene 6625 SNRNP70 ENSG00000104852 -180750 phenotype -180800 phenotype -180840 moved/removed -180849 phenotype -180850 moved/removed -180860 phenotype -180870 predominantly phenotypes -180900 phenotype -180901 gene 6261 RYR1 ENSG00000196218 -180902 gene 6262 RYR2 ENSG00000198626 -180903 gene 6263 RYR3 ENSG00000198838 -180910 gene -180920 phenotype -180930 moved/removed -180940 moved/removed -180950 phenotype -180960 gene 191 AHCY ENSG00000101444 -180980 gene 262 AMD1 ENSG00000123505 -180989 gene 5542 PRB1 ENSG00000251655 -180990 gene 5545 PRB4 ENSG00000230657 -181000 phenotype -181010 predominantly phenotypes -181030 phenotype -181031 gene 6295 SAG ENSG00000130561 -181035 gene 6302 TSPAN31 ENSG00000135452 -181180 predominantly phenotypes -181200 predominantly phenotypes -181250 predominantly phenotypes -181270 phenotype -181300 predominantly phenotypes -181350 phenotype -181400 phenotype -181405 phenotype -181430 phenotype -181440 phenotype -181450 phenotype -181460 phenotype 7911 -181500 phenotype -181510 phenotype 6377 -181515 moved/removed -181520 moved/removed -181590 gene 6491 STIL ENSG00000123473 -181600 phenotype -181700 predominantly phenotypes -181750 phenotype -181800 phenotype 260402 -182000 phenotype -182090 gene 6739 -182098 gene 6344 SCTR ENSG00000080293 -182099 gene 6343 SCT ENSG00000070031 -182100 gene 2524 FUT2 ENSG00000176920 -182115 gene 9267 CYTH1 ENSG00000108669 -182120 gene 6678 SPARC ENSG00000113140 -182125 gene 6697 SPR ENSG00000116096 -182128 gene 10993 SDS ENSG00000135094 -182131 gene 3351 HTR1B ENSG00000135312 -182132 gene 3354 HTR1E ENSG00000168830 -182133 gene 3352 HTR1D ENSG00000179546 -182134 gene 3355 HTR1F ENSG00000179097 -182135 gene 3356 HTR2A ENSG00000102468 -182137 gene 3363 HTR7 ENSG00000148680 -182138 gene 6532 SLC6A4 ENSG00000108576 -182139 gene 3359 HTR3A ENSG00000166736 -182140 gene 6406 SEMG1 ENSG00000124233 -182141 gene 6407 SEMG2 ENSG00000124157 -182143 moved/removed -182144 gene 6470 SHMT1 ENSG00000176974 -182145 gene -182150 predominantly phenotypes -182160 gene 6693 SPN ENSG00000197471 -182170 phenotype -182175 gene 6728 SRP19 ENSG00000153037 -182180 gene 6734 SRPRA ENSG00000182934 -182190 predominantly phenotypes -182200 predominantly phenotypes -182203 moved/removed -182205 gene 6462 SHBG ENSG00000129214 -182210 predominantly phenotypes -182212 phenotype -182220 predominantly phenotypes -182230 phenotype -182250 phenotype -182255 predominantly phenotypes -182257 gene 5266 PI3 ENSG00000124102 -182260 predominantly phenotypes -182265 gene 6698 SPRR1A ENSG00000169474 -182266 gene 6699 SPRR1B ENSG00000169469 -182267 gene 6700 SPRR2A ENSG00000241794 -182268 gene 6701 SPRR2B ENSG00000196805 -182269 predominantly phenotypes 6702 SPRR2C -182270 predominantly phenotypes -182271 gene 6707 SPRR3 ENSG00000163209 -182279 gene 6638 SNRPN ENSG00000128739 -182280 phenotype 7864 -182281 gene 6346 CCL1 ENSG00000108702 -182282 gene 6628 SNRPB ENSG00000125835 -182283 gene 6348 CCL3 ENSG00000277632 -182284 gene 6351 CCL4 ENSG00000275302 -182285 gene 6626 SNRPA ENSG00000077312 -182290 phenotype -182305 gene 6546 SLC8A1 ENSG00000183023 -182307 gene 6550 SLC9A3 ENSG00000066230 -182308 gene 6568 SLC17A1 ENSG00000124568 -182309 gene 6569 SLC34A1 ENSG00000131183 -182310 gene 476 ATP1A1 ENSG00000163399 -182330 gene 481 ATP1B1 ENSG00000143153 -182331 gene 482 ATP1B2 ENSG00000129244 -182340 gene 477 ATP1A2 ENSG00000018625 -182350 gene 478 ATP1A3 ENSG00000105409 -182360 gene 479 ATP12A ENSG00000075673 -182370 moved/removed -182380 gene 6523 SLC5A1 ENSG00000100170 -182381 gene 6524 SLC5A2 ENSG00000140675 -182389 gene 6323 SCN1A ENSG00000144285 -182390 gene 6326 SCN2A ENSG00000136531 -182391 gene 6328 SCN3A ENSG00000153253 -182392 gene 6332 SCN7A ENSG00000136546 -182396 gene 6554 SLC10A1 ENSG00000100652 -182400 predominantly phenotypes -182410 phenotype -182450 gene 6750 SST ENSG00000157005 -182451 gene 6751 SSTR1 ENSG00000139874 -182452 gene 6752 SSTR2 ENSG00000180616 -182453 gene 6753 SSTR3 ENSG00000278195 -182454 gene 6754 SSTR4 ENSG00000132671 -182455 gene 6755 SSTR5 ENSG00000162009 -182465 gene 6651 SON ENSG00000159140 -182500 gene 6652 SORD ENSG00000140263 -182520 gene 6717 SRI ENSG00000075142 -182530 gene 6654 SOS1 ENSG00000115904 -182590 gene 7032 TFF2 ENSG00000160181 -182600 phenotype -182601 phenotype -182610 predominantly phenotypes -182690 predominantly phenotypes -182700 moved/removed -182790 gene 6711 SPTBN1 ENSG00000115306 -182800 predominantly phenotypes -182810 gene 6709 SPTAN1 ENSG00000197694 -182815 predominantly phenotypes -182820 predominantly phenotypes -182830 predominantly phenotypes -182860 gene 6708 SPTA1 ENSG00000163554 -182870 gene 6710 SPTB ENSG00000070182 -182875 predominantly phenotypes -182878 gene 4956 ODF1 ENSG00000155087 -182879 moved/removed -182880 gene 5619 PRM1 ENSG00000175646 -182882 predominantly phenotypes -182888 gene 7783 ZP2 ENSG00000103310 -182889 gene 7784 ZP3 ENSG00000188372 -182890 gene 5620 PRM2 ENSG00000122304 -182891 gene 6723 SRM ENSG00000116649 -182892 moved/removed -182900 phenotype -182920 phenotype -182930 moved/removed -182940 phenotype -182950 phenotype -182960 phenotype -182970 phenotype -182980 phenotype -182990 predominantly phenotypes -183000 moved/removed -183020 predominantly phenotypes -183050 phenotype -183085 moved/removed -183086 phenotype -183090 phenotype -183100 predominantly phenotypes -183250 moved/removed -183300 predominantly phenotypes -183350 predominantly phenotypes -183400 predominantly phenotypes -183500 predominantly phenotypes -183600 phenotype -183700 predominantly phenotypes -183800 predominantly phenotypes -183802 predominantly phenotypes -183840 phenotype 791255 -183849 predominantly phenotypes -183850 predominantly phenotypes -183900 phenotype -184000 predominantly phenotypes -184095 phenotype -184100 phenotype 103875461 -184200 phenotype -184250 phenotype -184252 phenotype -184253 predominantly phenotypes -184255 phenotype -184260 phenotype -184300 predominantly phenotypes -184400 phenotype -184420 gene 2222 FDFT1 ENSG00000079459 -184429 gene 6657 SOX2 ENSG00000181449 -184430 gene 6659 SOX4 ENSG00000124766 -184450 phenotype -184460 phenotype -184470 gene 6779 STATH ENSG00000126549 -184500 phenotype -184510 predominantly phenotypes -184600 gene 1475 CSTA ENSG00000121552 -184601 moved/removed -184700 phenotype 5120 -184705 predominantly phenotypes -184745 gene 4254 KITLG ENSG00000049130 -184747 moved/removed -184753 gene 6715 SRD5A1 ENSG00000145545 -184754 moved/removed -184755 gene 6342 SCP2 ENSG00000116171 -184756 gene 6720 SREBF1 ENSG00000072310 -184757 gene 2516 NR5A1 ENSG00000136931 -184800 predominantly phenotypes -184840 phenotype -184850 phenotype -184900 phenotype -185000 phenotype -185010 moved/removed -185020 phenotype -185050 phenotype -185069 predominantly phenotypes -185070 phenotype -185100 phenotype 100188805 -185120 predominantly phenotypes -185200 phenotype -185250 gene 4314 MMP3 ENSG00000149968 -185260 gene 4319 MMP10 ENSG00000166670 -185261 gene 4320 MMP11 ENSG00000099953 -185300 phenotype -185400 moved/removed -185430 gene 1191 CLU ENSG00000120885 -185440 gene 6761 -185450 moved/removed -185460 predominantly phenotypes -185470 gene 6390 SDHB ENSG00000117118 -185480 predominantly phenotypes -185490 gene 6649 SOD3 ENSG00000109610 -185500 phenotype -185510 gene -185520 gene -185535 gene 4072 EPCAM ENSG00000119888 -185540 predominantly phenotypes -185560 gene -185570 gene -185580 gene -185590 gene -185595 moved/removed -185600 predominantly phenotypes -185605 gene 6857 SYT1 ENSG00000067715 -185610 predominantly phenotypes -185620 gene 6834 SURF1 ENSG00000148290 -185630 gene 6835 SURF2 ENSG00000148291 -185640 gene 6130 RPL7A ENSG00000148303 -185641 gene 6837 MED22 ENSG00000148297 -185642 gene 6838 SURF6 ENSG00000148296 -185650 predominantly phenotypes -185660 gene 6836 SURF4 ENSG00000148248 -185700 phenotype -185750 predominantly phenotypes -185800 phenotype -185860 gene 9900 SV2A ENSG00000159164 -185861 gene 9899 SV2B ENSG00000185518 -185880 gene 6843 VAMP1 ENSG00000139190 -185881 gene 6844 VAMP2 ENSG00000220205 -185900 phenotype -186000 phenotype -186100 phenotype -186200 phenotype -186300 phenotype -186350 phenotype -186355 gene 6382 SDC1 ENSG00000115884 -186357 gene 9672 SDC3 ENSG00000162512 -186360 gene 310 ANXA7 ENSG00000138279 -186400 phenotype -186500 phenotype -186550 phenotype -186570 phenotype -186575 predominantly phenotypes -186580 phenotype -186590 gene 6804 STX1A ENSG00000106089 -186591 gene 6810 STX4 ENSG00000103496 -186600 predominantly phenotypes -186690 moved/removed -186700 phenotype -186710 moved/removed -186711 gene 939 CD27 ENSG00000139193 -186720 gene 923 CD6 ENSG00000013725 -186730 gene 926 CD8B ENSG00000172116 -186740 gene 917 CD3G ENSG00000160654 -186745 gene 7094 TLN1 ENSG00000137076 -186750 predominantly phenotypes -186760 gene 940 CD28 ENSG00000178562 -186770 gene 3195 TLX1 ENSG00000107807 -186780 gene 919 CD247 ENSG00000198821 -186790 gene 915 CD3D ENSG00000167286 -186810 gene 28526 TRDC -186820 gene 924 CD7 ENSG00000173762 -186830 gene 916 CD3E ENSG00000198851 -186845 gene 975 CD81 ENSG00000110651 -186850 phenotype -186852 gene 5702 PSMC3 ENSG00000165916 -186854 gene 6533 SLC6A6 ENSG00000131389 -186855 gene 6887 TAL2 ENSG00000186051 -186860 gene 6946 -186880 gene 28755 TRAC ENSG00000277734 -186890 phenotype -186910 gene 925 CD8A ENSG00000153563 -186920 moved/removed -186921 gene 4004 LMO1 ENSG00000166407 -186930 gene 28639 TRBC1 ENSG00000211751 -186940 gene 920 CD4 ENSG00000010610 -186945 gene 2280 FKBP1A ENSG00000088832 -186946 gene 2286 FKBP2 ENSG00000173486 -186947 gene 2287 FKBP3 ENSG00000100442 -186950 predominantly phenotypes 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moved/removed -191092 gene 7249 TSC2 ENSG00000103197 -191100 phenotype -191110 gene 7277 TUBA4A ENSG00000127824 -191120 gene -191130 gene 203068 TUBB ENSG00000196230 -191135 gene 7283 TUBG1 ENSG00000131462 -191150 predominantly phenotypes -191155 gene 4071 TM4SF1 ENSG00000169908 -191160 gene 7124 TNF ENSG00000232810 -191161 gene 7126 TNFAIP1 ENSG00000109079 -191163 gene 7128 TNFAIP3 ENSG00000118503 -191164 gene 1942 EFNA1 ENSG00000169242 -191170 gene 7157 TP53 ENSG00000141510 -191175 gene 7184 HSP90B1 ENSG00000166598 -191181 phenotype 6762 -191190 gene 7132 TNFRSF1A ENSG00000067182 -191191 gene 7133 TNFRSF1B ENSG00000028137 -191195 gene 1326 MAP3K8 ENSG00000107968 -191200 phenotype -191250 predominantly phenotypes -191270 predominantly phenotypes 7300 TYRL -191275 gene 1638 DCT ENSG00000080166 -191290 gene 7054 TH ENSG00000180176 -191305 gene 640 BLK ENSG00000136573 -191306 gene 3791 KDR ENSG00000128052 -191309 moved/removed -191311 gene 4921 DDR2 ENSG00000162733 -191315 gene 4914 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619537 -192225 gene 7412 VCAM1 ENSG00000162692 -192240 gene 7422 VEGFA ENSG00000112715 -192300 predominantly phenotypes -192310 predominantly phenotypes -192315 phenotype -192320 gene 7432 VIP ENSG00000146469 -192321 gene 7433 VIPR1 ENSG00000114812 -192340 gene 551 AVP ENSG00000101200 -192350 phenotype -192400 predominantly phenotypes -192430 phenotype -192445 predominantly phenotypes -192450 moved/removed -192500 phenotype -192600 phenotype -192605 phenotype -192700 predominantly phenotypes -192800 predominantly phenotypes -192900 phenotype -192950 phenotype -192968 gene 3672 ITGA1 ENSG00000213949 -192972 moved/removed -192974 gene 3673 ITGA2 ENSG00000164171 -192975 gene 3676 ITGA4 ENSG00000115232 -192977 gene 7436 VLDLR ENSG00000147852 -193000 phenotype 54113 -193001 gene 6571 SLC18A2 ENSG00000165646 -193002 gene 6570 SLC18A1 ENSG00000036565 -193003 phenotype 317685 -193005 predominantly phenotypes -193007 phenotype 619536 -193010 moved/removed -193040 gene 7429 VIL1 ENSG00000127831 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phenotype -277720 phenotype -277730 phenotype -277740 predominantly phenotypes -277900 phenotype -277950 phenotype -277970 moved/removed -277990 predominantly phenotypes -278000 phenotype -278100 moved/removed -278150 phenotype -278200 predominantly phenotypes -278205 moved/removed -278250 phenotype -278300 phenotype -278400 moved/removed -278600 moved/removed -278700 phenotype -278720 phenotype -278730 phenotype -278740 phenotype -278750 phenotype -278760 phenotype -278780 phenotype -278800 phenotype -278810 moved/removed -278850 phenotype -278900 predominantly phenotypes -279000 phenotype -280000 phenotype -300000 phenotype -300001 phenotype -300002 gene 414 ARSD ENSG00000006756 -300003 gene 416 ARSF ENSG00000062096 -300004 phenotype -300005 gene 4204 MECP2 ENSG00000169057 -300006 gene 1069 CETN2 ENSG00000147400 -300007 gene 3581 IL9R ENSG00000124334 -300008 gene 1184 CLCN5 ENSG00000171365 -300009 phenotype -300010 gene -300011 gene 538 ATP7A ENSG00000165240 -300012 gene 6594 SMARCA1 ENSG00000102038 -300013 gene 8260 NAA10 ENSG00000102030 -300014 gene 492 ATP2B3 ENSG00000067842 -300015 gene 438 ASMT ENSG00000196433 -300016 gene 4100 MAGEA1 ENSG00000198681 -300017 gene 2316 FLNA ENSG00000196924 -300018 phenotype -300019 gene 3054 HCFC1 ENSG00000172534 -300020 moved/removed -300021 moved/removed -300022 gene 55558 PLXNA3 ENSG00000130827 -300023 gene 393 ARHGAP4 ENSG00000089820 -300024 gene 7712 ZNF157 ENSG00000147117 -300025 gene 1046 CDX4 ENSG00000131264 -300026 gene 4674 NAP1L2 ENSG00000186462 -300027 gene 5935 RBM3 ENSG00000102317 -300028 gene 8233 ZRSR2 ENSG00000169249 -300029 phenotype -300030 phenotype 1680 -300031 gene 84548 TMEM185A ENSG00000269556 -300032 gene 546 ATRX ENSG00000085224 -300033 gene 4303 FOXO4 ENSG00000184481 -300034 gene 186 AGTR2 ENSG00000180772 -300035 gene 1947 EFNB1 ENSG00000090776 -300036 gene 6535 SLC6A8 ENSG00000130821 -300037 gene 2719 GPC3 ENSG00000147257 -300038 gene 5030 P2RY4 ENSG00000186912 -300039 gene 5456 POU3F4 ENSG00000196767 -300040 gene 8243 SMC1A ENSG00000072501 -300041 gene 2986 GUCY2F ENSG00000101890 -300042 predominantly phenotypes -300043 moved/removed -300044 gene 8277 TKTL1 ENSG00000007350 -300045 moved/removed -300046 phenotype 4387 -300047 phenotype 4384 -300048 phenotype -300049 phenotype -300050 gene 8237 USP11 ENSG00000102226 -300051 gene 2824 GPM6B ENSG00000046653 -300052 gene 1821 DRP2 ENSG00000102385 -300053 gene 6845 VAMP7 ENSG00000124333 -300054 predominantly phenotypes 100913186 -300055 phenotype -300056 gene 3052 HCCS ENSG00000004961 -300057 moved/removed -300058 moved/removed -300059 gene 8269 TMEM187 ENSG00000177854 -300060 gene 8270 LAGE3 ENSG00000196976 -300061 gene 9203 ZMYM3 ENSG00000147130 -300062 phenotype 4378 -300063 moved/removed -300064 predominantly phenotypes -300065 gene 2491 CENPI ENSG00000102384 -300066 phenotype -300067 phenotype -300068 phenotype -300069 moved/removed -300070 gene 2258 FGF13 ENSG00000129682 -300071 phenotype -300072 gene 8239 USP9X ENSG00000124486 -300073 predominantly phenotypes -300074 gene 7497 XCE -300075 gene 6197 RPS6KA3 ENSG00000177189 -300076 phenotype 8259 -300077 moved/removed -300078 gene 4694 NDUFA1 ENSG00000125356 -300079 gene 331 XIAP ENSG00000101966 -300080 gene 8241 RBM10 ENSG00000182872 -300081 gene 1774 DNASE1L1 ENSG00000013563 -300082 phenotype 1083 -300083 gene 5613 PRKX ENSG00000183943 -300084 gene 4841 NONO ENSG00000147140 -300085 phenotype 1275 -300086 gene 2846 LPAR4 ENSG00000147145 -300087 phenotype -300088 phenotype -300089 gene 3421 IDH3G ENSG00000067829 -300090 gene 6748 SSR4 ENSG00000180879 -300091 gene 2277 VEGFD ENSG00000165197 -300092 gene 1527 TEX28 ENSG00000278057 -300093 gene 2564 GABRE ENSG00000102287 -300094 moved/removed -300095 gene 6567 SLC16A2 ENSG00000147100 -300096 gene 7102 TSPAN7 ENSG00000156298 -300097 gene 4112 MAGEB1 ENSG00000214107 -300098 gene 4113 MAGEB2 ENSG00000099399 -300099 moved/removed -300100 phenotype -300101 gene 660 BMX ENSG00000102010 -300102 gene 8228 PNPLA4 ENSG00000006757 -300103 gene 357 SHROOM2 ENSG00000146950 -300104 gene 2664 GDI1 ENSG00000203879 -300105 gene 6611 SMS ENSG00000102172 -300106 phenotype -300107 gene 680 BRS3 ENSG00000102239 -300108 gene 1730 DIAPH2 ENSG00000147202 -300109 gene 5475 PPEF1 ENSG00000086717 -300110 gene 778 CACNA1F ENSG00000102001 -300111 gene 4007 PRICKLE3 ENSG00000012211 -300112 gene 5355 PLP2 ENSG00000102007 -300113 predominantly phenotypes -300114 phenotype -300115 phenotype -300116 gene 4515 MTCP1 ENSG00000214827 -300117 gene 4675 NAP1L3 ENSG00000186310 -300118 gene 395 ARHGAP6 ENSG00000047648 -300119 gene 3597 IL13RA1 ENSG00000131724 -300120 gene 10046 MAMLD1 ENSG00000013619 -300121 gene 1641 DCX ENSG00000077279 -300122 moved/removed -300123 phenotype -300124 gene 8225 GTPBP6 ENSG00000178605 -300125 phenotype 8249 -300126 gene 1736 DKC1 ENSG00000130826 -300127 gene 4983 OPHN1 ENSG00000079482 -300128 gene 7403 KDM6A ENSG00000147050 -300129 predominantly phenotypes -300130 gene 3598 IL13RA2 ENSG00000123496 -300131 gene 5358 PLS3 ENSG00000102024 -300132 gene 7216 TRO ENSG00000067445 -300133 gene 7411 VBP1 ENSG00000155959 -300134 gene 1852 DUSP9 ENSG00000130829 -300135 gene 22 ABCB7 ENSG00000131269 -300136 phenotype 8245 -300137 gene 3547 IGSF1 ENSG00000147255 -300138 gene 1193 CLIC2 ENSG00000155962 -300139 gene 3476 IGBP1 ENSG00000089289 -300140 moved/removed -300141 moved/removed -300142 gene 5063 PAK3 ENSG00000077264 -300143 phenotype -300144 gene 2747 GLUD2 ENSG00000182890 -300145 gene 7512 XPNPEP2 ENSG00000122121 -300146 gene 827 CAPN6 ENSG00000077274 -300147 phenotype 9566 -300148 phenotype -300149 gene 4435 CITED1 ENSG00000125931 -300150 gene 292 SLC25A5 ENSG00000005022 -300151 gene 293 SLC25A6 ENSG00000169100 -300152 gene 4114 MAGEB3 ENSG00000198798 -300153 gene 4115 MAGEB4 ENSG00000120289 -300154 gene 80712 ESX1 ENSG00000123576 -300155 phenotype 6116 -300156 gene 1485 CTAG1B ENSG00000184033 -300157 gene 2182 ACSL4 ENSG00000068366 -300158 phenotype 619510 -300159 gene 7114 TMSB4X ENSG00000205542 -300160 gene 1654 DDX3X ENSG00000215301 -300161 gene 1968 EIF2S3 ENSG00000130741 -300162 gene 8623 ASMTL ENSG00000169093 -300163 gene 2273 FHL1 ENSG00000022267 -300164 gene 8552 INE1 ENSG00000224975 -300165 gene 8551 INE2 ENSG00000281371 -300166 phenotype -300167 gene 9843 HEPH ENSG00000089472 -300168 gene 2239 GPC4 ENSG00000076716 -300169 gene 9131 AIFM1 ENSG00000156709 -300170 gene 8481 OFD1 ENSG00000046651 -300171 gene 8776 MTMR1 ENSG00000063601 -300172 gene 8573 CASK ENSG00000147044 -300173 gene 4101 MAGEA2 ENSG00000268606 -300174 gene 4102 MAGEA3 ENSG00000221867 -300175 gene 4103 MAGEA4 ENSG00000147381 -300176 gene 4105 MAGEA6 ENSG00000197172 -300177 gene 4111 MAGEA12 ENSG00000213401 -300178 gene 9189 ZBED1 ENSG00000214717 -300179 phenotype 117237 -300180 gene 415 ARSL ENSG00000157399 -300181 gene 9383 TSIX ENSG00000270641 -300182 gene 9282 MED14 ENSG00000180182 -300183 moved/removed -300184 predominantly phenotypes -300185 gene 8852 AKAP4 ENSG00000147081 -300186 gene 1964 EIF1AX ENSG00000173674 -300187 gene 8406 SRPX ENSG00000101955 -300188 gene 9968 MED12 ENSG00000184634 -300189 gene 1741 DLG3 ENSG00000082458 -300190 gene 6451 SH3BGRL ENSG00000131171 -300191 gene 7105 TSPAN6 ENSG00000000003 -300192 gene 6757 SSX2 ENSG00000241476 -300193 gene 3149 HMGB3 ENSG00000029993 -300194 phenotype -300195 gene 9949 AMMECR1 ENSG00000101935 -300196 gene 6907 TBL1X ENSG00000101849 -300197 gene 537 ATP6AP1 ENSG00000071553 -300198 gene 8908 GYG2 ENSG00000056998 -300199 gene 27316 RBMX ENSG00000147274 -300200 phenotype -300201 gene 10800 CYSLTR1 ENSG00000173198 -300202 gene 6399 TRAPPC2 ENSG00000196459 -300203 gene 6792 CDKL5 ENSG00000008086 -300204 gene 11043 MID2 ENSG00000080561 -300205 gene 10682 EBP ENSG00000147155 -300206 gene 11141 IL1RAPL1 ENSG00000169306 -300207 gene 9248 GPR50 ENSG00000102195 -300208 gene 10389 SCML2 ENSG00000102098 -300209 phenotype -300210 phenotype -300211 phenotype 10118 -300212 gene 9104 RGN ENSG00000130988 -300213 gene 8933 RTL8C ENSG00000134590 -300214 gene 5365 PLXNB3 ENSG00000198753 -300215 phenotype -300216 predominantly phenotypes 1283 -300217 gene 10742 RAI2 ENSG00000131831 -300218 phenotype 4429 -300219 phenotype -300220 moved/removed -300221 phenotype 50829 -300222 gene 9452 ITM2A ENSG00000078596 -300223 gene 9947 MAGEC1 ENSG00000155495 -300224 gene 9500 MAGED1 ENSG00000179222 -300225 gene 27035 NOX1 ENSG00000007952 -300226 gene 23676 SMPX ENSG00000091482 -300227 gene 6322 SCML1 ENSG00000047634 -300228 phenotype 50830 -300229 gene 26609 VCX ENSG00000182583 -300230 gene 11238 CA5B ENSG00000169239 -300231 gene 10479 SLC9A6 ENSG00000198689 -300232 phenotype -300233 predominantly phenotypes -300234 gene 8409 UXT ENSG00000126756 -300235 gene 7789 ZXDA ENSG00000198205 -300236 gene 158586 ZXDB ENSG00000198455 -300237 gene 9338 TCEAL1 ENSG00000172465 -300238 phenotype -300239 gene 25975 EGFL6 ENSG00000198759 -300240 moved/removed -300241 gene 2857 GPR34 ENSG00000171659 -300242 gene 9016 SLC25A14 ENSG00000102078 -300243 phenotype -300244 phenotype -300245 phenotype 54115 -300246 gene 27328 PCDH11X ENSG00000102290 -300247 gene 9210 BMP15 ENSG00000130385 -300248 gene 8517 IKBKG ENSG00000269335 -300249 gene 10245 TIMM17B ENSG00000126768 -300250 moved/removed -300251 moved/removed -300252 gene 5303 PIN4 ENSG00000102309 -300253 gene 54328 GPR173 ENSG00000184194 -300254 gene 6839 SUV39H1 ENSG00000101945 -300255 gene 8473 OGT ENSG00000147162 -300256 gene 3028 HSD17B10 ENSG00000072506 -300257 phenotype -300258 moved/removed -300259 predominantly phenotypes 57789 -300260 phenotype -300261 phenotype -300262 phenotype 57792 -300263 phenotype -300264 gene 29978 UBQLN2 ENSG00000188021 -300265 gene 7547 ZIC3 ENSG00000156925 -300266 phenotype 57760 -300267 gene 9459 ARHGEF6 ENSG00000129675 -300268 moved/removed -300269 gene 55869 HDAC8 ENSG00000147099 -300270 predominantly phenotypes -300271 phenotype -300272 gene 10013 HDAC6 ENSG00000094631 -300273 phenotype 59081 -300274 moved/removed -300275 gene 50814 NSDHL ENSG00000147383 -300276 gene 60401 EDA2R ENSG00000131080 -300277 gene 26280 IL1RAPL2 ENSG00000189108 -300278 gene 60506 NYX ENSG00000188937 -300279 moved/removed -300280 phenotype -300281 gene 3750 KCND1 ENSG00000102057 -300282 gene 10495 ENOX2 ENSG00000165675 -300283 gene 3654 IRAK1 ENSG00000184216 -300284 gene 9367 RAB9A ENSG00000123595 -300285 gene 51209 RAB9B ENSG00000123570 -300286 gene 11279 KLF8 ENSG00000102349 -300287 gene 9506 PAGE4 ENSG00000101951 -300288 gene 8712 PAGE1 ENSG00000068985 -300289 gene 653067 XAGE1B ENSG00000204382 -300290 moved/removed -300291 phenotype -300292 gene 50943 FOXP3 ENSG00000049768 -300293 moved/removed -300294 gene 51360 MBTPS2 ENSG00000012174 -300295 gene 11040 PIM2 ENSG00000102096 -300296 gene 10761 PLAC1 ENSG00000170965 -300297 gene 8862 APLN ENSG00000171388 -300298 gene 65109 UPF3B ENSG00000125351 -300299 phenotype -300300 gene 695 BTK ENSG00000010671 -300301 moved/removed -300302 gene 6990 DYNLT3 ENSG00000165169 -300303 gene 27330 RPS6KA6 ENSG00000072133 -300304 gene 8450 CUL4B ENSG00000158290 -300305 gene 30014 SPANXA1 ENSG00000198021 -300306 phenotype -300307 gene 50945 TBX22 ENSG00000122145 -300308 gene 53940 FTHL17 ENSG00000132446 -300309 gene 83844 USP26 ENSG00000134588 -300310 phenotype -300311 gene 56159 TEX11 ENSG00000120498 -300312 gene 56157 TEX13A ENSG00000268629 -300313 gene 56156 TEX13B ENSG00000170925 -300314 gene 54457 TAF7L ENSG00000102387 -300315 gene 56001 NXF2 ENSG00000269405 -300316 gene 56000 NXF3 ENSG00000147206 -300317 gene 9185 REPS2 ENSG00000169891 -300318 gene 55999 NXF4 ENSG00000196970 -300319 gene 55998 NXF5 ENSG00000126952 -300320 gene 55916 NXT2 ENSG00000101888 -300321 phenotype -300322 phenotype -300323 phenotype -300324 phenotype 4416 -300325 gene 10214 SSX3 ENSG00000165584 -300326 gene 6759 SSX4 ENSG00000268009 -300327 gene 6758 SSX5 ENSG00000165583 -300328 gene 23630 KCNE5 ENSG00000176076 -300329 gene 10009 ZBTB33 ENSG00000177485 -300330 gene 64663 SPANXC ENSG00000198573 -300331 moved/removed -300332 gene 26548 ITGB1BP2 ENSG00000147166 -300333 gene 9363 RAB33A ENSG00000134594 -300334 gene 7224 TRPC5 ENSG00000072315 -300335 gene 59272 ACE2 ENSG00000130234 -300336 gene 54413 NLGN3 ENSG00000196338 -300337 phenotype -300338 gene 1260 CNGA2 ENSG00000183862 -300339 gene 28227 PPP2R3B ENSG00000167393 -300340 gene 4104 MAGEA5P -300341 gene 4107 MAGEA8 ENSG00000156009 -300342 gene 4108 MAGEA9 ENSG00000123584 -300343 gene 4109 MAGEA10 ENSG00000124260 -300344 gene 4110 MAGEA11 ENSG00000185247 -300345 phenotype 85503 -300346 gene 27336 HTATSF1 ENSG00000102241 -300347 gene 10824 DIAPH2-AS1 ENSG00000236256 -300348 gene 56062 KLHL4 ENSG00000102271 -300349 gene 55879 GABRQ ENSG00000268089 -300350 gene 91851 CHRDL1 ENSG00000101938 -300351 phenotype 117189 -300352 phenotype -300353 gene 11326 VSIG4 ENSG00000155659 -300354 phenotype -300355 phenotype 23694 -300356 gene 1678 TIMM8A ENSG00000126953 -300357 gene 64109 CRLF2 ENSG00000205755 -300358 gene 65267 WNK3 ENSG00000196632 -300359 gene 55511 SAGE1 ENSG00000181433 -300360 moved/removed -300361 gene 27018 BEX3 ENSG00000166681 -300362 gene 51309 ARMCX1 ENSG00000126947 -300363 gene 9823 ARMCX2 ENSG00000184867 -300364 gene 51566 ARMCX3 ENSG00000102401 -300365 gene 51284 TLR7 ENSG00000196664 -300366 gene 51311 TLR8 ENSG00000101916 -300367 phenotype -300368 gene 84679 SLC9A7 ENSG00000065923 -300369 gene 93953 GCNA ENSG00000147174 -300370 gene 11219 TREX2 ENSG00000183479 -300371 gene 215 ABCD1 ENSG00000101986 -300372 phenotype 4406 -300373 phenotype -300374 gene 30011 SH3KBP1 ENSG00000147010 -300375 gene 56548 CHST7 ENSG00000147119 -300376 phenotype -300377 gene 1756 DMD ENSG00000198947 -300378 phenotype 266719 -300379 gene 51132 RLIM ENSG00000131263 -300380 gene 56474 CTPS2 ENSG00000047230 -300381 gene 7739 ZNF185 ENSG00000147394 -300382 gene 170302 ARX ENSG00000004848 -300383 gene 5199 CFP ENSG00000126759 -300384 gene 2010 EMD ENSG00000102119 -300385 gene 79366 HMGN5 ENSG00000198157 -300386 gene 959 CD40LG ENSG00000102245 -300387 phenotype -300388 phenotype -300389 moved/removed -300390 gene 1121 CHM ENSG00000188419 -300391 gene 265 AMELX ENSG00000125363 -300392 gene 7454 WAS ENSG00000015285 -300393 gene 83550 GPR101 ENSG00000165370 -300394 gene 6901 TAFAZZIN ENSG00000102125 -300395 gene 57187 THOC2 ENSG00000125676 -300396 gene 30848 CTAG2 ENSG00000126890 -300397 moved/removed -300398 gene 10134 BCAP31 ENSG00000185825 -300399 gene 27344 PCSK1N ENSG00000102109 -300400 phenotype -300401 gene 5354 PLP1 ENSG00000123560 -300402 gene 23641 LDOC1 ENSG00000182195 -300403 gene 54539 NDUFB11 ENSG00000147123 -300404 moved/removed -300405 gene 282808 RAB40AL ENSG00000102128 -300406 phenotype 93985 -300407 gene 140886 PABPC5 ENSG00000174740 -300408 gene 56850 GRIPAP1 ENSG00000068400 -300409 gene 9643 MORF4L2 ENSG00000123562 -300410 gene 154796 AMOT ENSG00000126016 -300411 gene 90316 TGIF2LX ENSG00000153779 -300412 moved/removed -300413 gene 55796 MBNL3 ENSG00000076770 -300414 gene 84295 PHF6 ENSG00000156531 -300415 gene 4534 MTM1 ENSG00000171100 -300416 gene 9502 XAGE2 ENSG00000155622 -300417 gene 9737 GPRASP1 ENSG00000198932 -300418 gene 23708 GSPT2 ENSG00000189369 -300419 phenotype -300420 gene 64219 PJA1 ENSG00000181191 -300421 moved/removed -300422 phenotype -300423 phenotype -300424 phenotype -300425 phenotype -300426 moved/removed -300427 gene 57502 NLGN4X ENSG00000146938 -300428 phenotype -300429 gene 23229 ARHGEF9 ENSG00000131089 -300430 moved/removed -300431 predominantly phenotypes -300432 moved/removed -300433 phenotype 266678 -300434 phenotype -300435 gene 10857 PGRMC1 ENSG00000101856 -300436 phenotype -300437 gene 3266 ERAS ENSG00000187682 -300438 phenotype -300439 gene 79589 RNF128 ENSG00000133135 -300440 gene 55922 NKRF ENSG00000186416 -300441 gene 54440 SASH3 ENSG00000122122 -300442 moved/removed -300443 gene 84889 SLC7A3 ENSG00000165349 -300444 gene 11254 SLC6A14 ENSG00000268104 -300445 gene 83740 H2AB3 ENSG00000277745 -300446 gene 158800 RHOXF1 ENSG00000101883 -300447 gene 84528 RHOXF2 ENSG00000131721 -300448 phenotype -300449 moved/removed -300450 gene 89885 FATE1 ENSG00000147378 -300451 gene 1896 EDA ENSG00000158813 -300452 gene 27160 INGX ENSG00000243468 -300453 gene 9130 FAM50A ENSG00000071859 -300454 phenotype 93991 -300455 phenotype -300456 gene 85417 CCNB3 ENSG00000147082 -300457 gene 4810 NHS ENSG00000188158 -300458 moved/removed -300459 gene 64102 TNMD ENSG00000000005 -300460 gene 57526 PCDH19 ENSG00000165194 -300461 gene 5009 OTC ENSG00000036473 -300462 gene 158798 AKAP14 ENSG00000186471 -300463 gene 10084 PQBP1 ENSG00000102103 -300464 phenotype 387573 -300465 moved/removed -300466 gene 347541 MAGEB5 ENSG00000188408 -300467 gene 158809 MAGEB6 ENSG00000176746 -300468 gene 51438 MAGEC2 ENSG00000046774 -300469 gene 139081 MAGEC3 ENSG00000165509 -300470 gene 10916 MAGED2 ENSG00000102316 -300471 phenotype 494028 -300472 phenotype -300473 gene 190 NR0B1 ENSG00000169297 -300474 gene 2710 GK ENSG00000198814 -300475 phenotype -300476 phenotype -300477 gene 171482 FAM9A ENSG00000183304 -300478 gene 171483 FAM9B ENSG00000177138 -300479 gene 171484 FAM9C ENSG00000187268 -300480 gene 257397 TAB3 ENSG00000157625 -300481 gene 1536 CYBB ENSG00000165168 -300482 gene 139716 GAB3 ENSG00000160219 -300483 moved/removed -300484 phenotype -300485 gene 54880 BCOR ENSG00000183337 -300486 phenotype -300487 gene 139741 ACTRT1 ENSG00000123165 -300488 phenotype 494029 -300489 phenotype -300490 gene 4068 SH2D1A ENSG00000183918 -300491 phenotype -300492 gene 60343 FAM3A ENSG00000071889 -300493 gene 728712 SPANXA2 ENSG00000203926 -300494 phenotype -300495 phenotype -300496 phenotype -300497 phenotype -300498 phenotype -300499 gene 24140 FTSJ1 ENSG00000068438 -300500 phenotype -300501 moved/removed -300502 gene 5160 PDHA1 ENSG00000131828 -300503 moved/removed -300504 moved/removed -300505 phenotype 378882 -300506 gene 1831 TSC22D3 ENSG00000157514 -300507 gene 158983 H2BW1 ENSG00000123569 -300508 gene 10813 UTP14A ENSG00000156697 -300509 phenotype 474159 -300510 phenotype -300511 phenotype -300512 gene 64743 WDR13 ENSG00000101940 -300513 gene 139760 GPR119 ENSG00000147262 -300514 phenotype -300515 gene 2187 FANCB ENSG00000181544 -300516 gene 286410 ATP11C ENSG00000101974 -300517 gene 474343 SPIN2B ENSG00000186787 -300518 phenotype 378484 -300519 phenotype 574047 -300520 gene 9075 CLDN2 ENSG00000165376 -300521 gene 24137 KIF4A ENSG00000090889 -300522 gene 23096 IQSEC2 ENSG00000124313 -300523 phenotype -300524 gene 340533 NEXMIF ENSG00000050030 -300525 gene 286530 P2RY8 ENSG00000182162 -300526 gene 11152 WDR45 ENSG00000196998 -300527 gene 170685 NUDT10 ENSG00000122824 -300528 gene 55190 NUDT11 ENSG00000196368 -300529 gene 27334 P2RY10 ENSG00000078589 -300530 moved/removed -300531 gene 10251 SPRY3 ENSG00000168939 -300532 gene 51480 VCX2 ENSG00000177504 -300533 gene 51481 VCX3A ENSG00000169059 -300534 phenotype -300535 gene 4952 OCRL ENSG00000122126 -300536 phenotype 554316 -300537 moved/removed -300538 gene 554 AVPR2 ENSG00000126895 -300539 phenotype -300540 gene 55559 HAUS7 ENSG00000213397 -300541 gene 280657 SSX6P -300542 gene 280658 SSX7 ENSG00000187754 -300543 gene 280659 SSX8P ENSG00000157965 -300544 gene 280660 SSX9P ENSG00000204648 -300545 gene 90161 HS6ST2 ENSG00000171004 -300546 gene 2245 FGD1 ENSG00000102302 -300547 gene 51765 STK26 ENSG00000134602 -300548 gene 28986 MAGEH1 ENSG00000187601 -300549 gene 266740 MAGEA2B ENSG00000183305 -300550 gene 5251 PHEX ENSG00000102174 -300551 moved/removed -300552 gene 4281 MID1 ENSG00000101871 -300553 gene 254065 BRWD3 ENSG00000165288 -300554 phenotype -300555 phenotype -300556 gene 10159 ATP6AP2 ENSG00000182220 -300557 phenotype 677662 -300558 phenotype -300559 phenotype -300560 gene 23133 PHF8 ENSG00000172943 -300561 gene 84631 SLITRK2 ENSG00000185985 -300562 gene 139065 SLITRK4 ENSG00000179542 -300563 moved/removed -300564 gene 64061 TSPYL2 ENSG00000184205 -300565 moved/removed -300566 gene 340596 LHFPL1 ENSG00000182508 -300567 gene 441531 PGAM4 ENSG00000226784 -300568 gene 407006 MIR221 ENSG00000207870 -300569 gene 407007 MIR222 ENSG00000207725 -300570 gene 404281 YY2 ENSG00000230797 -300571 moved/removed -300572 gene 10149 ADGRG2 ENSG00000173698 -300573 gene 641339 ZNF674 ENSG00000251192 -300574 gene 2833 CXCR3 ENSG00000186810 -300575 gene 92129 RIPPLY1 ENSG00000147223 -300576 gene 158866 ZDHHC15 ENSG00000102383 -300577 phenotype -300578 phenotype -300579 gene 57477 SHROOM4 ENSG00000158352 -300580 phenotype 100188765 -300581 phenotype 780900 -300582 phenotype -300583 gene 51442 VGLL1 ENSG00000102243 -300584 moved/removed -300585 gene 55634 KRBOX4 ENSG00000147121 -300586 gene 347527 ARSH ENSG00000205667 -300587 gene 28985 MCTS1 ENSG00000232119 -300588 gene 10178 TENM1 ENSG00000009694 -300589 phenotype 780901 -300590 phenotype -300591 phenotype 100037264 -300592 gene 255313 CT47A11 ENSG00000226929 -300593 gene 389852 SPACA5 ENSG00000171489 -300594 gene 2543 GAGE1 ENSG00000205777 -300595 gene 2574 GAGE2C -300596 gene -300597 gene 2576 GAGE4 -300598 gene 2577 GAGE5 -300599 gene 2578 GAGE6 -300600 phenotype -300601 gene 2579 GAGE7 -300602 moved/removed -300603 gene 79983 POF1B ENSG00000124429 -300604 phenotype -300605 phenotype 777642 -300606 moved/removed -300607 phenotype -300608 gene 117154 DACH2 ENSG00000126733 -300609 gene 10943 MSL3 ENSG00000005302 -300610 gene 3188 HNRNPH2 ENSG00000126945 -300611 gene 29071 C1GALT1C1 ENSG00000171155 -300612 moved/removed -300613 phenotype 677764 -300614 phenotype -300615 phenotype -300616 gene 51213 LUZP4 ENSG00000102021 -300617 gene 79184 BRCC3 ENSG00000185515 -300618 gene 9767 JADE3 ENSG00000102221 -300619 phenotype -300620 gene 340547 VSIG1 ENSG00000101842 -300621 gene 54466 SPIN2A ENSG00000147059 -300622 phenotype -300623 phenotype -300624 phenotype -300625 gene 203413 CT83 ENSG00000204019 -300626 gene 140456 ASB11 ENSG00000165192 -300627 gene 203523 ZNF449 ENSG00000173275 -300628 gene 90167 FRMD7 ENSG00000165694 -300629 gene 8905 AP1S2 ENSG00000182287 -300630 moved/removed -300631 gene 57393 CLTRN ENSG00000147003 -300632 gene 51248 PDZD11 ENSG00000120509 -300633 phenotype -300634 gene 57595 PDZD4 ENSG00000067840 -300635 phenotype -300636 phenotype -300637 gene 26748 GAGE12I -300638 gene 100101629 GAGE8 -300639 moved/removed -300640 moved/removed -300641 gene 203427 SLC25A43 ENSG00000077713 -300642 gene 27286 SRPX2 ENSG00000102359 -300643 phenotype -300644 gene 2717 GLA ENSG00000102393 -300645 phenotype -300646 gene 51114 ZDHHC9 ENSG00000188706 -300647 gene 139285 AMER1 ENSG00000184675 -300648 gene 541466 CT45A1 ENSG00000268940 -300649 gene 92745 SLC38A5 ENSG00000017483 -300650 predominantly phenotypes 4941 -300651 gene 64840 PORCN ENSG00000102312 -300652 phenotype 100188767 -300653 phenotype -300654 gene 158584 FAAH2 ENSG00000165591 -300655 gene 90293 KLHL13 ENSG00000003096 -300656 gene 139596 UPRT ENSG00000094841 -300657 gene 246100 CTAG1A ENSG00000268651 -300658 gene 4693 NDP ENSG00000124479 -300659 phenotype -300660 moved/removed -300661 phenotype -300662 gene 677799 SNORA11 ENSG00000221716 -300663 gene 115201 ATG4A ENSG00000101844 -300664 gene 494118 SPANXN1 ENSG00000203923 -300665 gene 494119 SPANXN2 ENSG00000268988 -300666 gene 139067 SPANXN3 ENSG00000189252 -300667 gene 441525 SPANXN4 ENSG00000189326 -300668 gene 494197 SPANXN5 ENSG00000204363 -300669 gene 728695 SPANXB1 ENSG00000227234 -300670 gene 64648 SPANXD ENSG00000196406 -300671 moved/removed -300672 phenotype -300673 phenotype -300674 gene 56180 MOSPD1 ENSG00000101928 -300675 gene 29944 PNMA3 ENSG00000183837 -300676 phenotype -300677 gene 55787 TXLNG ENSG00000086712 -300678 gene 63904 DUSP21 ENSG00000189037 -300679 phenotype -300680 gene 139728 PNCK ENSG00000130822 -300681 gene 139818 DOCK11 ENSG00000147251 -300682 gene 494336 MIR424 ENSG00000284231 -300683 gene 23157 SEPTIN6 ENSG00000125354 -300684 gene 402415 XKRX ENSG00000182489 -300685 gene 79057 PRRG3 ENSG00000130032 -300686 gene 554212 MIR448 ENSG00000199001 -300687 gene 54821 ERCC6L ENSG00000186871 -300688 gene 63035 BCORL1 ENSG00000085185 -300689 gene 9754 STARD8 ENSG00000130052 -300690 gene 55859 BEX1 ENSG00000133169 -300691 gene 84707 BEX2 ENSG00000133134 -300692 gene 56271 BEX4 ENSG00000102409 -300693 gene 340542 BEX5 ENSG00000184515 -300694 gene 407008 MIR223 ENSG00000284567 -300695 phenotype -300696 phenotype -300697 gene 10075 HUWE1 ENSG00000086758 -300698 gene 83604 TMEM47 ENSG00000147027 -300699 phenotype -300700 phenotype 122 -300701 gene 170261 ZCCHC12 ENSG00000174460 -300702 gene 728239 MAGED4 ENSG00000154545 -300703 phenotype 100188768 -300704 phenotype 100188769 -300705 phenotype -300706 moved/removed -300707 phenotype -300708 gene 92002 CCNQ ENSG00000262919 -300709 phenotype -300710 phenotype 100188771 -300711 phenotype 100188772 -300712 phenotype 100188773 -300713 gene 55593 OTUD5 ENSG00000068308 -300714 gene 139562 OTUD6A ENSG00000189401 -300715 gene 84061 MAGT1 ENSG00000102158 -300716 phenotype 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ENSG00000228836 -300797 gene 541465 CT45A6 ENSG00000278289 -300798 gene 5256 PHKA2 ENSG00000044446 -300799 phenotype -300800 moved/removed -300801 phenotype -300802 phenotype -300803 phenotype -300804 phenotype -300805 gene 100126270 FMR1-AS1 ENSG00000268066 -300806 gene 2334 AFF2 ENSG00000155966 -300807 phenotype -300808 gene 4935 GPR143 ENSG00000101850 -300809 phenotype 100379200 -300810 gene 407054 MIR98 ENSG00000271886 -300811 gene 406897 MIR105-1 ENSG00000207957 -300812 gene 406898 MIR105-2 ENSG00000207818 -300813 predominantly phenotypes -300814 phenotype -300815 phenotype -300816 phenotype -300817 gene 80258 EFHC2 ENSG00000183690 -300818 phenotype -300819 gene 57232 ZNF630 ENSG00000221994 -300820 gene 389840 MAP3K15 ENSG00000180815 -300821 gene 2652 OPN1MW ENSG00000268221 -300822 gene 5956 OPN1LW ENSG00000102076 -300823 gene 3423 IDS ENSG00000010404 -300824 gene 107604627 -300825 gene 5931 RBBP7 ENSG00000102054 -300826 gene 10735 STAG2 ENSG00000101972 -300827 gene 8823 FGF16 ENSG00000196468 -300828 gene 139411 PTCHD1 ENSG00000165186 -300829 phenotype -300830 phenotype -300831 phenotype -300832 gene 554203 JPX ENSG00000225470 -300833 phenotype -300834 phenotype -300835 phenotype -300836 gene 3730 ANOS1 ENSG00000011201 -300837 gene 139189 DGKK ENSG00000274588 -300838 gene 9758 FRMPD4 ENSG00000169933 -300839 gene 6247 RS1 ENSG00000102104 -300840 gene 11230 PRAF2 ENSG00000243279 -300841 gene 2157 F8 ENSG00000185010 -300842 phenotype -300843 phenotype 100653365 -300844 phenotype -300845 phenotype -300846 gene 83692 CD99L2 ENSG00000102181 -300847 phenotype -300848 phenotype -300849 phenotype -300850 phenotype -300851 phenotype 102775565 -300852 phenotype 105463129 -300853 phenotype -300854 phenotype -300855 phenotype -300856 phenotype 100689214 -300857 phenotype -300858 phenotype 100739996 -300859 gene 28952 CCDC22 ENSG00000101997 -300860 phenotype -300861 phenotype 100820761 -300862 gene 23597 ACOT9 ENSG00000123130 -300863 phenotype -300864 predominantly phenotypes 100820758 -300865 gene 574506 MIR503 ENSG00000208005 -300866 gene 574515 MIR510 ENSG00000207641 -300867 phenotype -300868 phenotype -300869 phenotype -300870 phenotype -300871 gene 139341 FUNDC1 ENSG00000069509 -300872 phenotype -300873 gene 54552 GNL3L ENSG00000130119 -300874 gene 574513 MIR508 ENSG00000207589 -300875 gene 574514 MIR509-1 ENSG00000208000 -300876 gene 100126337 MIR509-3 ENSG00000212014 -300877 gene 574511 MIR506 ENSG00000207731 -300878 gene 63947 DMRTC1 ENSG00000269502 -300879 gene 7499 XG ENSG00000124343 -300880 gene 5716 PSMD10 ENSG00000101843 -300881 moved/removed -300882 phenotype -300883 gene 29934 SNX12 ENSG00000147164 -300884 phenotype -300885 gene 1349 COX7B ENSG00000131174 -300886 phenotype -300887 phenotype -300888 phenotype -300889 gene 340554 ZC3H12B ENSG00000102053 -300890 gene 140462 ASB9 ENSG00000102048 -300891 gene 142689 ASB12 ENSG00000198881 -300892 gene 101241891 LINC00850 ENSG00000280752 -300893 gene 574504 MIR502 ENSG00000272080 -300894 phenotype -300895 phenotype -300896 phenotype -300897 gene 55906 ZC4H2 ENSG00000126970 -300898 gene 103611090 CDR1-AS -300899 gene 6170 RPL39 ENSG00000198918 -300900 moved/removed -300901 gene 105463123 XACT -300902 gene 6173 RPL36A ENSG00000241343 -300903 gene 84636 GPR174 ENSG00000147138 -300904 gene 8471 IRS4 ENSG00000133124 -300905 phenotype -300906 gene 5165 PDK3 ENSG00000067992 -300907 gene 1478 CSTF2 ENSG00000101811 -300908 phenotype -300909 phenotype -300910 phenotype -300911 phenotype -300912 phenotype -300913 gene 203547 VMA21 ENSG00000160131 -300914 phenotype -300915 phenotype -300916 gene 114824 PNMA5 ENSG00000198883 -300917 gene 84968 PNMA6A ENSG00000235961 -300918 phenotype -300919 phenotype -300920 gene 92552 ATXN3L ENSG00000123594 -300921 gene 80823 BHLHB9 ENSG00000198908 -300922 gene 53344 CHIC1 ENSG00000204116 -300923 phenotype -300924 gene 158833 AWAT1 ENSG00000204195 -300925 gene 158835 AWAT2 ENSG00000147160 -300926 gene 347516 DGAT2L6 ENSG00000184210 -300927 gene 10549 PRDX4 ENSG00000123131 -300928 phenotype -300929 gene 100313781 MIR718 ENSG00000284286 -300930 gene 79649 MAP7D3 ENSG00000129680 -300931 gene 8544 PIR ENSG00000087842 -300932 phenotype -300933 gene 139212 DNAAF6 ENSG00000080572 -300934 phenotype -300935 gene 5638 PRRG1 ENSG00000130962 -300936 gene 100302692 FTX ENSG00000230590 -300937 gene 158763 ARHGAP36 ENSG00000147256 -300938 gene 25878 MXRA5 ENSG00000101825 -300939 gene 11013 TMSB15A ENSG00000158164 -300940 gene 54857 GDPD2 ENSG00000130055 -300941 gene 401612 SLC25A53 ENSG00000269743 -300942 phenotype -300943 phenotype -300944 gene 158511 CSAG1 ENSG00000198930 -300945 gene 90121 TSR2 ENSG00000158526 -300946 phenotype -300947 gene 90060 CCDC120 ENSG00000147144 -300948 gene 9468 PCYT1B ENSG00000102230 -300949 gene 139628 FOXR2 ENSG00000189299 -300950 gene 574032 MIR20B ENSG00000284043 -300951 gene 7737 RNF113A ENSG00000125352 -300952 phenotype -300953 phenotype -300954 gene 91966 EOLA1 ENSG00000197620 -300955 gene 139322 APOOL ENSG00000155008 -300956 gene 286494 BRAFP1 ENSG00000224775 -300957 phenotype -300958 phenotype -300959 gene 79742 DIPK2B ENSG00000147113 -300960 phenotype -300961 gene 58526 MID1IP1 ENSG00000165175 -300962 gene 54960 GEMIN8 ENSG00000046647 -300963 phenotype -300964 gene 81887 LAS1L ENSG00000001497 -300965 gene 57529 RTL9 ENSG00000243978 -300966 phenotype -300967 phenotype -300968 phenotype -300969 gene 114928 GPRASP2 ENSG00000158301 -300970 gene 79710 MORC4 ENSG00000133131 -300971 phenotype -300972 phenotype -300973 gene 101928941 RHOXF1P1 ENSG00000234493 -300974 gene 55344 PLCXD1 ENSG00000182378 -300975 gene 389856 USP27X ENSG00000273820 -300976 gene 169966 TENT5D ENSG00000174016 -300977 phenotype -300978 phenotype -300979 phenotype -300980 gene 80311 KLHL15 ENSG00000174010 -300981 gene 425054 VCX3B ENSG00000205642 -300982 phenotype -300983 phenotype -300984 phenotype -300985 phenotype -300986 phenotype -300987 moved/removed -300988 phenotype -300989 phenotype -300990 phenotype 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phenotype -301060 phenotype -301061 gene 55613 MTMR8 ENSG00000102043 -301062 gene 768218 MIR766 ENSG00000211578 -301064 gene 286514 MAGEB18 ENSG00000176774 -301065 gene 142684 RAB40A ENSG00000172476 -301066 phenotype -301067 gene 442444 FAM47C ENSG00000198173 -301068 phenotype -301069 phenotype -301070 gene 54521 WDR44 ENSG00000131725 -301071 phenotype -301072 phenotype -301073 gene 23439 ATP1B4 ENSG00000101892 -301074 phenotype -301077 phenotype -301090 moved/removed -301100 moved/removed -301200 phenotype -301201 phenotype 201 -301220 phenotype -301300 gene 212 ALAS2 ENSG00000158578 -301310 phenotype -301410 predominantly phenotypes -301500 phenotype -301590 moved/removed -301700 predominantly phenotypes -301770 gene 407 ARR3 ENSG00000120500 -301780 gene 413 ARSC2 -301790 predominantly phenotypes 727715 -301800 predominantly phenotypes -301810 moved/removed -301815 predominantly phenotypes -301820 moved/removed -301830 phenotype -301835 phenotype -301840 predominantly phenotypes 727716 -301845 phenotype 8255 -301850 predominantly phenotypes -301870 gene 633 BGN ENSG00000182492 -301880 moved/removed -301900 phenotype -301940 predominantly phenotypes -301950 predominantly phenotypes -302000 phenotype 1881 -302020 gene 795 S100G ENSG00000169906 -302030 phenotype -302045 phenotype -302060 phenotype -302200 phenotype -302300 moved/removed -302350 phenotype -302380 moved/removed -302400 predominantly phenotypes -302500 phenotype -302600 predominantly phenotypes 727714 -302650 gene 1038 CDR1 -302700 predominantly phenotypes -302800 phenotype -302801 phenotype 1253 -302802 phenotype -302803 predominantly phenotypes -302900 predominantly phenotypes -302905 phenotype -302910 gene 1183 CLCN4 ENSG00000073464 -302920 moved/removed -302940 moved/removed -302950 phenotype -302960 phenotype -303100 phenotype -303110 phenotype -303350 phenotype -303400 phenotype -303600 phenotype -303630 gene 1287 COL4A5 ENSG00000188153 -303631 gene 1288 COL4A6 ENSG00000197565 -303650 predominantly phenotypes -303700 phenotype -303800 phenotype -303900 phenotype -304000 moved/removed -304020 phenotype -304030 predominantly phenotypes -304040 gene 2705 GJB1 ENSG00000169562 -304050 phenotype 192 -304100 phenotype -304110 phenotype -304120 phenotype -304150 phenotype -304200 predominantly phenotypes -304300 predominantly phenotypes -304340 phenotype -304350 predominantly phenotypes -304400 phenotype -304500 phenotype -304590 moved/removed -304600 moved/removed -304700 phenotype -304730 phenotype 8231 -304750 moved/removed -304790 phenotype -304800 phenotype -304900 predominantly phenotypes -304930 moved/removed -304950 predominantly phenotypes -304990 moved/removed -305000 phenotype -305050 moved/removed -305100 phenotype -305200 moved/removed -305300 moved/removed -305350 predominantly phenotypes -305360 gene 4354 MPP1 ENSG00000130830 -305370 gene 7076 TIMP1 ENSG00000102265 -305371 gene 2623 GATA1 ENSG00000102145 -305390 phenotype -305400 phenotype -305423 gene 8263 F8A1 ENSG00000288722 -305424 gene -305425 moved/removed -305435 phenotype 2221 -305450 phenotype -305550 predominantly phenotypes -305600 phenotype -305620 phenotype -305645 moved/removed -305650 moved/removed -305660 gene 2556 GABRA3 ENSG00000011677 -305670 gene 2925 GRPR ENSG00000126010 -305690 predominantly phenotypes -305700 predominantly phenotypes -305800 predominantly phenotypes -305900 gene 2539 G6PD ENSG00000160211 -305910 moved/removed -305915 gene 2892 GRIA3 ENSG00000125675 -305920 predominantly phenotypes -305980 moved/removed -305990 gene 2742 GLRA2 ENSG00000101958 -306000 phenotype -306100 moved/removed -306190 moved/removed -306250 gene 1438 CSF2RA ENSG00000198223 -306300 predominantly phenotypes -306400 phenotype -306480 gene 8226 PUDP ENSG00000130021 -306500 moved/removed -306600 moved/removed -306700 phenotype -306800 predominantly phenotypes -306900 phenotype -306930 predominantly phenotypes -306950 predominantly phenotypes -306955 phenotype -306960 phenotype -306970 moved/removed -306980 predominantly phenotypes -306990 predominantly phenotypes -306995 predominantly phenotypes -307000 phenotype -307010 predominantly phenotypes -307030 phenotype -307150 phenotype -307200 phenotype -307300 moved/removed -307500 predominantly phenotypes -307600 moved/removed -307700 phenotype -307800 phenotype -307810 moved/removed -307830 predominantly phenotypes -308000 gene 3251 HPRT1 ENSG00000165704 -308050 phenotype -308100 phenotype -308200 predominantly phenotypes -308205 phenotype -308210 moved/removed -308220 predominantly phenotypes -308230 phenotype -308240 phenotype -308250 phenotype -308280 phenotype -308290 predominantly phenotypes -308300 phenotype -308310 moved/removed -308350 phenotype -308370 moved/removed -308380 gene 3561 IL2RG ENSG00000147168 -308385 gene 3563 IL3RA ENSG00000185291 -308400 moved/removed -308500 predominantly phenotypes 3548 -308600 predominantly phenotypes -308700 phenotype -308750 predominantly phenotypes -308800 phenotype -308830 predominantly phenotypes -308840 gene 3897 L1CAM ENSG00000198910 -308850 predominantly phenotypes -308905 phenotype -308930 moved/removed -308940 phenotype -308950 predominantly phenotypes -308960 predominantly phenotypes -308980 moved/removed -308990 phenotype -309000 phenotype -309050 predominantly phenotypes 7523 -309060 gene 3920 LAMP2 ENSG00000005893 -309100 phenotype -309120 phenotype -309150 moved/removed -309200 phenotype 4096 -309300 phenotype -309350 phenotype -309400 phenotype -309470 moved/removed -309480 predominantly phenotypes -309490 moved/removed -309500 phenotype -309510 phenotype -309520 phenotype -309530 phenotype -309540 moved/removed -309541 phenotype -309545 phenotype 8246 -309548 phenotype -309549 phenotype -309550 gene 2332 FMR1 ENSG00000102081 -309555 phenotype 8258 -309560 phenotype -309580 phenotype -309583 phenotype -309585 phenotype -309590 phenotype -309600 moved/removed -309605 moved/removed -309610 phenotype 5640 -309620 phenotype 4364 -309630 phenotype -309640 predominantly phenotypes -309645 moved/removed -309660 moved/removed -309700 moved/removed -309800 phenotype -309801 phenotype -309840 predominantly phenotypes -309845 gene 4478 MSN ENSG00000147065 -309850 gene 4128 MAOA ENSG00000189221 -309860 gene 4129 MAOB ENSG00000069535 -309900 phenotype -309930 predominantly phenotypes -309950 predominantly phenotypes -310000 predominantly phenotypes -310095 predominantly phenotypes -310200 phenotype -310300 phenotype -310305 moved/removed -310310 gene 4611 MYCLP1 -310350 predominantly phenotypes -310370 predominantly phenotypes -310400 phenotype -310440 phenotype -310450 moved/removed -310460 phenotype 4657 -310465 predominantly phenotypes -310468 phenotype -310470 predominantly phenotypes -310490 phenotype -310500 phenotype -310600 phenotype -310650 predominantly phenotypes -310700 phenotype -310800 predominantly phenotypes -310900 predominantly phenotypes -310980 predominantly phenotypes -310990 moved/removed -311000 phenotype 4981 -311010 gene 369 ARAF ENSG00000078061 -311020 moved/removed -311030 gene 4168 MCF2 ENSG00000101977 -311040 gene 2002 ELK1 ENSG00000126767 -311050 phenotype 4977 -311070 phenotype -311100 predominantly phenotypes -311150 moved/removed -311200 phenotype -311240 gene 4943 TBC1D25 ENSG00000068354 -311241 moved/removed -311250 phenotype -311280 moved/removed -311300 phenotype -311350 predominantly phenotypes -311360 phenotype -311400 predominantly phenotypes 4434 -311450 predominantly phenotypes -311510 phenotype -311550 gene 5127 CDK16 ENSG00000102225 -311601 moved/removed -311700 moved/removed -311750 moved/removed -311770 gene 5277 PIGA ENSG00000165195 -311790 gene 5207 PFKFB1 ENSG00000158571 -311800 gene 5230 PGK1 ENSG00000102144 -311810 moved/removed -311850 gene 5631 PRPS1 ENSG00000147224 -311860 gene 5634 PRPS2 ENSG00000101911 -311870 gene 5255 PHKA1 ENSG00000067177 -311895 predominantly phenotypes -311900 phenotype -312000 phenotype -312030 moved/removed -312040 gene 5422 POLA1 ENSG00000101868 -312060 phenotype -312070 gene 8266 UBL4A ENSG00000102178 -312080 phenotype -312090 gene 8273 SLC10A3 ENSG00000126903 -312095 gene 8227 AKAP17A ENSG00000197976 -312100 moved/removed -312150 phenotype -312170 phenotype -312173 gene 6134 RPL10 ENSG00000147403 -312180 gene 7319 UBE2A ENSG00000077721 -312190 predominantly phenotypes -312200 predominantly phenotypes -312210 predominantly phenotypes -312300 phenotype -312390 moved/removed -312400 moved/removed -312420 gene 5973 RENBP ENSG00000102032 -312450 moved/removed -312500 phenotype -312530 moved/removed -312550 predominantly phenotypes 5548 -312600 phenotype -312610 gene 6103 RPGR ENSG00000156313 -312612 phenotype 6104 -312700 phenotype -312750 phenotype -312760 gene 6191 RPS4X ENSG00000198034 -312780 predominantly phenotypes -312800 moved/removed -312820 gene 6756 SSX1 ENSG00000126752 -312830 predominantly phenotypes -312840 predominantly phenotypes -312860 moved/removed -312861 gene 3358 HTR2C ENSG00000147246 -312863 phenotype -312865 gene 6473 SHOX ENSG00000185960 -312870 phenotype -312890 moved/removed -312900 moved/removed -312910 predominantly phenotypes -312920 phenotype -313000 phenotype 59332 -313020 gene 6303 SAT1 ENSG00000130066 -313100 moved/removed -313200 phenotype -313350 phenotype 6463 -313400 phenotype -313420 phenotype -313430 gene 6658 SOX3 ENSG00000134595 -313440 gene 6853 SYN1 ENSG00000008056 -313450 moved/removed -313460 moved/removed -313470 gene 4267 CD99 ENSG00000002586 -313475 gene 6855 SYP ENSG00000102003 -313480 predominantly phenotypes -313490 predominantly phenotypes -313500 phenotype -313550 moved/removed -313650 gene 6872 TAF1 ENSG00000147133 -313680 moved/removed -313700 gene 367 AR ENSG00000169083 -313850 phenotype 7055 -313900 phenotype -314000 predominantly phenotypes -314050 phenotype -314100 predominantly phenotypes -314200 gene 6906 SERPINA7 ENSG00000123561 -314240 predominantly phenotypes -314250 phenotype -314300 phenotype 7085 -314310 gene 7030 TFE3 ENSG00000068323 -314320 predominantly phenotypes -314350 moved/removed -314360 predominantly phenotypes -314370 gene 7317 UBA1 ENSG00000130985 -314375 gene 7355 SLC35A2 ENSG00000102100 -314380 phenotype -314390 phenotype -314400 phenotype -314500 phenotype -314550 predominantly phenotypes -314555 moved/removed -314560 predominantly phenotypes -314570 predominantly phenotypes -314580 phenotype -314600 phenotype -314670 gene 7503 XIST ENSG00000229807 -314690 gene 8242 KDM5C ENSG00000126012 -314700 phenotype -314705 gene -314800 predominantly phenotypes -314850 gene 7504 XK ENSG00000047597 -314900 phenotype 7506 -314920 moved/removed -314940 moved/removed -314960 moved/removed -314980 gene 7543 ZFX ENSG00000005889 -314990 gene 7552 ZNF711 ENSG00000147180 -314993 gene 7569 ZNF182 ENSG00000147118 -314995 gene 7592 ZNF41 ENSG00000147124 -314997 gene 7626 ZNF75D ENSG00000186376 -314998 gene 347344 ZNF81 ENSG00000197779 -315000 moved/removed -400000 moved/removed -400001 moved/removed -400002 moved/removed -400003 gene 1617 DAZ1 ENSG00000188120 -400004 phenotype 79051 -400005 gene 8287 USP9Y ENSG00000114374 -400006 gene 5940 RBMY1A1 ENSG00000234414 -400007 moved/removed -400008 gene 5616 PRKY ENSG00000099725 -400009 gene 7404 UTY ENSG00000183878 -400010 gene 8653 DDX3Y ENSG00000067048 -400011 gene 8623 ASMTL ENSG00000169093 -400012 gene 9084 VCY ENSG00000129864 -400013 gene 9083 BPY2 ENSG00000183753 -400014 gene 9086 EIF1AY ENSG00000198692 -400015 gene 9082 XKRY ENSG00000250868 -400016 gene 9085 CDY1 ENSG00000172288 -400017 gene 9087 TMSB4Y ENSG00000154620 -400018 gene 9426 CDY2A ENSG00000182415 -400019 gene 9081 PRY ENSG00000169789 -400020 gene 6473 SHOX ENSG00000185960 -400021 phenotype -400022 gene 83259 PCDH11Y ENSG00000099715 -400023 gene 64109 CRLF2 ENSG00000205755 -400024 moved/removed -400025 gene 90655 TGIF2LY ENSG00000176679 -400026 gene 57055 DAZ2 ENSG00000205944 -400027 gene 57054 DAZ3 ENSG00000187191 -400028 gene 22829 NLGN4Y ENSG00000165246 -400029 gene 86614 HSFY1 ENSG00000172468 -400030 gene 140032 RPS4Y2 ENSG00000280969 -400031 gene 246126 TXLNGY ENSG00000131002 -400032 moved/removed -400033 gene 90665 TBL1Y ENSG00000092377 -400034 gene 114758 CSPG4P1Y ENSG00000240450 -400035 gene 84559 GOLGA2P2Y ENSG00000239533 -400036 gene 114760 TTTY3 ENSG00000231141 -400037 gene 114761 TTTY4 ENSG00000226906 -400038 gene 83863 TTTY5 ENSG00000215560 -400039 gene 84672 TTTY6 ENSG00000131538 -400040 gene 252949 TTTY17A ENSG00000228240 -400041 gene 442862 PRY2 ENSG00000169807 -400042 phenotype -400043 phenotype 724074 -400044 phenotype -400045 phenotype -400046 gene -400047 phenotype -400048 gene 57135 DAZ4 ENSG00000205916 -400049 gene -400050 gene 353513 VCY1B ENSG00000129862 -402500 gene 438 ASMT ENSG00000196433 -403000 gene 293 SLC25A6 ENSG00000169100 -410000 gene 266 AMELY ENSG00000099721 -415000 phenotype -424000 moved/removed -424500 predominantly phenotypes -425000 gene 1438 CSF2RA ENSG00000198223 -425500 predominantly phenotypes 100188776 -426000 gene 8284 KDM5D ENSG00000012817 -430000 gene 3563 IL3RA ENSG00000185291 -450000 gene 4267 CD99 ENSG00000002586 -465000 gene 8227 AKAP17A ENSG00000197976 -470000 gene 6192 RPS4Y1 ENSG00000129824 -475000 phenotype 2656 -480000 gene 6736 SRY ENSG00000184895 -480100 gene 7258 TSPY1 ENSG00000258992 -488000 moved/removed -489000 predominantly phenotypes -489500 gene -490000 gene 7544 ZFY ENSG00000067646 -500000 phenotype -500001 phenotype -500002 phenotype -500003 phenotype -500004 phenotype -500005 phenotype -500006 phenotype -500007 phenotype -500008 phenotype -500009 phenotype -500010 phenotype -500011 phenotype -500013 phenotype -500014 phenotype -500015 phenotype -502000 phenotype -502500 phenotype -510000 moved/removed -515000 phenotype -516000 gene 4535 MT-ND1 ENSG00000198888 -516001 gene 4536 MT-ND2 ENSG00000198763 -516002 gene 4537 MT-ND3 ENSG00000198840 -516003 gene 4538 MT-ND4 ENSG00000198886 -516004 gene 4539 MT-ND4L ENSG00000212907 -516005 gene 4540 MT-ND5 ENSG00000198786 -516006 gene 4541 MT-ND6 ENSG00000198695 -516020 gene 4519 MT-CYB ENSG00000198727 -516030 gene 4512 MT-CO1 ENSG00000198804 -516040 gene 4513 MT-CO2 ENSG00000198712 -516050 gene 4514 MT-CO3 ENSG00000198938 -516060 gene 4508 MT-ATP6 ENSG00000198899 -516070 gene 4509 MT-ATP8 ENSG00000228253 -520000 phenotype -520100 phenotype -530000 phenotype -535000 phenotype -540000 phenotype -545000 phenotype -550000 moved/removed -550500 phenotype -550900 moved/removed -551000 phenotype -551200 phenotype -551500 phenotype -553000 phenotype -555000 moved/removed -556500 phenotype -557000 phenotype -560000 phenotype -561000 gene 4549 MT-RNR1 ENSG00000211459 -561010 gene 4550 MT-RNR2 ENSG00000210082 -580000 phenotype -590000 gene 4553 MT-TA ENSG00000210127 -590005 gene 4573 MT-TR ENSG00000210174 -590010 gene 4570 MT-TN ENSG00000210135 -590015 gene 4555 MT-TD ENSG00000210154 -590020 gene 4511 MT-TC ENSG00000210140 -590025 gene 4556 MT-TE ENSG00000210194 -590030 gene 4572 MT-TQ ENSG00000210107 -590035 gene 4563 MT-TG ENSG00000210164 -590040 gene 4564 MT-TH ENSG00000210176 -590045 gene 4565 MT-TI ENSG00000210100 -590050 gene 4567 MT-TL1 ENSG00000209082 -590055 gene 4568 MT-TL2 ENSG00000210191 -590060 gene 4566 MT-TK ENSG00000210156 -590065 gene 4569 MT-TM ENSG00000210112 -590070 gene 4558 MT-TF ENSG00000210049 -590075 gene 4571 MT-TP ENSG00000210196 -590080 gene 4574 MT-TS1 ENSG00000210151 -590085 gene 4575 MT-TS2 ENSG00000210184 -590090 gene 4576 MT-TT ENSG00000210195 -590095 gene 4578 MT-TW ENSG00000210117 -590100 gene 4579 MT-TY ENSG00000210144 -590105 gene 4577 MT-TV ENSG00000210077 -598500 phenotype -600000 predominantly phenotypes -600001 phenotype -600002 phenotype -600003 gene 783 CACNB2 ENSG00000165995 -600004 gene 2044 EPHA5 ENSG00000145242 -600005 gene 4261 CIITA ENSG00000179583 -600006 gene 5989 RFX1 ENSG00000132005 -600007 gene 2323 FLT3LG ENSG00000090554 -600008 gene 4837 NNMT ENSG00000166741 -600009 gene 3429 IFI27 ENSG00000165949 -600010 gene 3642 INSM1 ENSG00000173404 -600011 gene 2050 EPHB4 ENSG00000196411 -600012 gene 283556 UBE2L1 -600013 gene 7528 YY1 ENSG00000100811 -600014 gene 6595 SMARCA2 ENSG00000080503 -600015 moved/removed -600016 gene 1272 CNTN1 ENSG00000018236 -600017 gene 6385 SDC4 ENSG00000124145 -600018 gene 4988 OPRM1 ENSG00000112038 -600019 gene 1534 CYB561 ENSG00000008283 -600020 gene 4601 MXI1 ENSG00000119950 -600021 gene 4084 MXD1 ENSG00000059728 -600022 gene 5739 PTGIR ENSG00000160013 -600023 gene 1009 CDH11 ENSG00000140937 -600024 gene 3930 LBR ENSG00000143815 -600025 gene 3831 KLC1 ENSG00000126214 -600026 gene 6641 SNTB1 ENSG00000172164 -600027 gene 6645 SNTB2 ENSG00000168807 -600028 gene 1749 DLX5 ENSG00000105880 -600029 gene 1745 DLX1 ENSG00000144355 -600030 gene 1750 DLX6 ENSG00000006377 -600031 gene 1118 CHIT1 ENSG00000133063 -600032 moved/removed -600033 gene 7980 TFPI2 ENSG00000105825 -600034 gene 2016 EMX1 ENSG00000135638 -600035 gene 2018 EMX2 ENSG00000170370 -600036 gene 5013 OTX1 ENSG00000115507 -600037 gene 5015 OTX2 ENSG00000165588 -600038 gene 4145 MATK ENSG00000007264 -600039 gene 598 BCL2L1 ENSG00000171552 -600040 gene 581 BAX ENSG00000087088 -600041 gene 5029 P2RY2 ENSG00000175591 -600042 gene 4161 MC5R ENSG00000176136 -600043 gene 6783 SULT1E1 ENSG00000109193 -600044 gene 7066 THPO ENSG00000090534 -600045 gene 1642 DDB1 ENSG00000167986 -600046 gene 19 ABCA1 ENSG00000165029 -600047 gene 20 ABCA2 ENSG00000107331 -600048 moved/removed -600049 gene -600050 gene 4296 MAP3K11 ENSG00000173327 -600051 gene 2060 EPS15 ENSG00000085832 -600052 gene 187 APLNR ENSG00000134817 -600053 gene 1261 CNGA3 ENSG00000144191 -600054 moved/removed -600055 moved/removed -600056 moved/removed -600057 phenotype -600058 gene 7294 TXK ENSG00000074966 -600059 phenotype -600060 phenotype -600061 gene 5886 RAD23A ENSG00000179262 -600062 gene 5887 RAD23B ENSG00000119318 -600063 gene 6738 RO60 ENSG00000116747 -600064 gene 337880 KRTAP11-1 ENSG00000182591 -600065 gene 3689 ITGB2 ENSG00000160255 -600066 gene 285220 EPHA6 ENSG00000080224 -600067 gene 7363 UGT2B4 ENSG00000156096 -600068 gene 7364 UGT2B7 ENSG00000171234 -600069 gene 7366 UGT2B15 ENSG00000196620 -600070 gene 7365 UGT2B10 ENSG00000109181 -600071 moved/removed -600072 phenotype -600073 gene 4036 LRP2 ENSG00000081479 -600074 gene 100133941 CD24 ENSG00000272398 -600075 gene 6908 TBP ENSG00000112592 -600076 gene 7145 TNS1 ENSG00000079308 -600077 moved/removed -600078 moved/removed -600079 gene 5782 PTPN12 ENSG00000127947 -600080 predominantly phenotypes -600081 phenotype -600082 phenotype -600083 moved/removed -600084 predominantly phenotypes -600085 gene 6850 SYK ENSG00000165025 -600086 gene 131 ADH7 ENSG00000196344 -600087 gene 7286 TUFT1 ENSG00000143367 -600088 moved/removed -600089 predominantly phenotypes 7962 -600090 moved/removed -600091 moved/removed -600092 phenotype -600093 predominantly phenotypes -600094 moved/removed -600095 moved/removed -600096 predominantly phenotypes -600097 moved/removed -600098 gene 22800 RRAS2 ENSG00000133818 -600099 moved/removed -600100 moved/removed -600101 phenotype -600102 moved/removed -600103 gene 6860 SYT4 ENSG00000132872 -600104 gene 127833 SYT2 ENSG00000143858 -600105 phenotype -600106 gene 3632 INPP5A ENSG00000068383 -600107 moved/removed -600108 gene 4322 MMP13 ENSG00000137745 -600109 moved/removed -600110 phenotype -600111 gene 6507 SLC1A3 ENSG00000079215 -600112 gene 1778 DYNC1H1 ENSG00000197102 -600113 moved/removed -600114 gene 7203 CCT3 ENSG00000163468 -600115 moved/removed -600116 phenotype -600117 predominantly phenotypes -600118 phenotype -600119 gene 6442 SGCA ENSG00000108823 -600120 moved/removed -600121 phenotype -600122 predominantly phenotypes -600123 predominantly phenotypes -600124 gene 3181 HNRNPA2B1 ENSG00000122566 -600125 moved/removed -600126 gene 5141 PDE4A ENSG00000065989 -600127 gene 5142 PDE4B ENSG00000184588 -600128 gene 5143 PDE4C ENSG00000105650 -600129 gene 5144 PDE4D ENSG00000113448 -600130 gene 339 APOBEC1 ENSG00000111701 -600131 phenotype 50966 -600132 phenotype -600133 gene 3910 LAMA4 ENSG00000112769 -600134 moved/removed -600135 gene 404217 CTXN1 ENSG00000178531 -600136 gene 4293 MAP3K9 ENSG00000006432 -600137 gene 4294 MAP3K10 ENSG00000130758 -600138 phenotype -600139 moved/removed -600140 gene 1387 CREBBP ENSG00000005339 -600141 gene 3336 HSPE1 ENSG00000115541 -600142 phenotype -600143 phenotype -600144 gene 3709 ITPR2 ENSG00000123104 -600145 phenotype -600146 moved/removed -600147 gene 4222 MEOX1 ENSG00000005102 -600148 gene 2712 GK2 ENSG00000196475 -600149 predominantly phenotypes 2713 GK3P ENSG00000229894 -600150 gene 3778 KCNMA1 ENSG00000156113 -600151 phenotype -600152 gene 6396 SEC13 ENSG00000157020 -600153 gene 5281 PIGF ENSG00000151665 -600154 gene 5283 PIGH ENSG00000100564 -600155 phenotype -600156 phenotype 404720 -600157 gene 162 AP1B1 ENSG00000100280 -600158 moved/removed -600159 predominantly phenotypes -600160 gene 1029 CDKN2A ENSG00000147889 -600161 gene 145624 PWAR1 ENSG00000279050 -600162 gene 8123 PWAR5 ENSG00000279192 -600163 gene 6331 SCN5A ENSG00000183873 -600164 gene 2669 GEM ENSG00000164949 -600165 phenotype 23691 -600166 predominantly phenotypes -600167 gene 3269 HRH1 ENSG00000196639 -600168 gene 4486 MST1R ENSG00000164078 -600169 gene 100507436 MICA ENSG00000204520 -600170 gene 360 AQP3 ENSG00000165272 -600171 predominantly phenotypes -600172 gene 4520 MTF1 ENSG00000188786 -600173 gene 3718 JAK3 ENSG00000105639 -600174 gene 5306 PITPNA ENSG00000174238 -600175 phenotype -600176 phenotype -600177 moved/removed -600178 gene 4130 MAP1A ENSG00000166963 -600179 gene 3000 GUCY2D ENSG00000132518 -600180 moved/removed -600181 gene 3934 LCN2 ENSG00000148346 -600182 gene 8140 SLC7A5 ENSG00000103257 -600183 gene 1845 DUSP3 ENSG00000108861 -600184 gene 1384 CRAT ENSG00000095321 -600185 gene 675 BRCA2 ENSG00000139618 -600186 moved/removed -600187 gene 1984 EIF5A ENSG00000132507 -600188 gene 166 TLE5 ENSG00000104964 -600189 gene 7088 TLE1 ENSG00000196781 -600190 gene 7090 TLE3 ENSG00000140332 -600191 moved/removed -600192 gene 6760 SS18 ENSG00000141380 -600193 phenotype 7488 -600194 gene 3849 KRT2 ENSG00000172867 -600195 phenotype -600196 moved/removed -600197 gene 7975 MAFK ENSG00000198517 -600198 moved/removed -600199 moved/removed -600200 moved/removed -600201 gene 434 ASIP ENSG00000101440 -600202 phenotype -600203 moved/removed -600204 phenotype -600205 moved/removed -600206 gene 2059 EPS8 ENSG00000151491 -600207 gene 3241 HPCAL1 ENSG00000115756 -600208 moved/removed -600209 phenotype 2133 -600210 gene 864 RUNX3 ENSG00000020633 -600211 gene 860 RUNX2 ENSG00000124813 -600212 gene 2194 FASN ENSG00000169710 -600213 moved/removed -600214 gene 177 AGER ENSG00000204305 -600215 gene 4236 MFAP1 ENSG00000140259 -600216 moved/removed -600217 moved/removed -600218 moved/removed -600219 moved/removed -600220 gene 5336 PLCG2 ENSG00000197943 -600221 gene 7010 TEK ENSG00000120156 -600222 gene 7075 TIE1 ENSG00000066056 -600223 phenotype -600224 phenotype -600225 gene 2643 GCH1 ENSG00000131979 -600226 moved/removed -600227 gene 899 CCNF ENSG00000162063 -600228 gene 6337 SCNN1A ENSG00000111319 -600229 gene 6509 SLC1A4 ENSG00000115902 -600230 gene 5331 PLCB3 ENSG00000149782 -600231 phenotype -600232 gene 2561 GABRB2 ENSG00000145864 -600233 gene 2567 GABRG3 ENSG00000182256 -600234 gene 3158 HMGCS2 ENSG00000134240 -600235 gene 6324 SCN1B ENSG00000105711 -600236 gene 1063 CENPF ENSG00000117724 -600237 gene 7290 HIRA ENSG00000100084 -600238 gene 7053 TGM3 ENSG00000125780 -600239 gene 2825 CMKLR2 ENSG00000183671 -600240 gene 2826 CCR10 ENSG00000184451 -600241 gene 2827 GPR3 ENSG00000181773 -600242 gene 1236 CCR7 ENSG00000126353 -600243 gene 1603 DAD1 ENSG00000129562 -600244 gene 5133 PDCD1 ENSG00000188389 -600245 gene 2331 FMOD ENSG00000122176 -600246 gene 2005 ELK4 ENSG00000158711 -600247 gene 2004 ELK3 ENSG00000111145 -600248 moved/removed -600249 gene 10840 ALDH1L1 ENSG00000144908 -600250 gene 6375 XCL1 ENSG00000143184 -600251 phenotype -600252 predominantly phenotypes -600253 gene 196 AHR ENSG00000106546 -600254 moved/removed -600255 moved/removed -600256 moved/removed -600257 phenotype -600258 gene 5378 PMS1 ENSG00000064933 -600259 gene 5395 PMS2 ENSG00000122512 -600260 moved/removed -600261 moved/removed -600262 gene 5743 PTGS2 ENSG00000073756 -600263 phenotype -600264 gene 553 AVPR1B ENSG00000198049 -600265 moved/removed -600266 gene 6556 SLC11A1 ENSG00000018280 -600267 gene 5783 PTPN13 ENSG00000163629 -600268 phenotype -600269 predominantly phenotypes -600270 gene 5118 PCOLCE ENSG00000106333 -600271 gene 1825 DSC3 ENSG00000134762 -600272 gene 8161 COIL ENSG00000121058 -600273 phenotype -600274 phenotype -600275 gene 4853 NOTCH2 ENSG00000134250 -600276 gene 4854 NOTCH3 ENSG00000074181 -600277 gene 3399 ID3 ENSG00000117318 -600278 gene 5909 RAP1GAP ENSG00000076864 -600279 gene 5824 PEX19 ENSG00000162735 -600280 gene 4682 NUBP1 ENSG00000103274 -600281 gene 3172 HNF4A ENSG00000101076 -600282 gene 2900 GRIK4 ENSG00000149403 -600283 gene 2901 GRIK5 ENSG00000105737 -600284 gene 8178 ELL ENSG00000105656 -600285 gene 2107 ETF1 ENSG00000120705 -600286 gene 5297 PI4KA ENSG00000241973 -600287 gene 2617 GARS1 ENSG00000106105 -600288 gene 3170 FOXA2 ENSG00000125798 -600289 gene 1432 MAPK14 ENSG00000112062 -600290 moved/removed -600291 gene 109 ADCY3 ENSG00000138031 -600292 gene 196883 ADCY4 ENSG00000129467 -600293 gene 111 ADCY5 ENSG00000173175 -600294 gene 112 ADCY6 ENSG00000174233 -600295 gene 4879 NPPB ENSG00000120937 -600296 gene 4880 NPPC ENSG00000163273 -600297 gene 1045 CDX2 ENSG00000165556 -600298 gene 4009 LMX1A ENSG00000162761 -600299 gene 5108 PCM1 ENSG00000078674 -600300 gene 6506 SLC1A2 ENSG00000110436 -600301 gene 36 ACADSB ENSG00000196177 -600302 predominantly phenotypes -600303 gene 2889 RAPGEF1 ENSG00000107263 -600304 moved/removed -600305 gene 1632 ECI1 ENSG00000167969 -600306 gene 5693 PSMB5 ENSG00000100804 -600307 gene 5694 PSMB6 ENSG00000142507 -600308 gene 361 AQP4 ENSG00000171885 -600309 phenotype -600310 gene 1311 COMP ENSG00000105664 -600311 gene 3004 GZMM ENSG00000197540 -600312 gene 4521 NUDT1 ENSG00000106268 -600313 moved/removed -600314 gene 6461 SHB ENSG00000107338 -600315 gene 7293 TNFRSF4 ENSG00000186827 -600316 phenotype -600317 gene 7171 TPM4 ENSG00000167460 -600318 phenotype 3402 -600319 phenotype 3403 -600320 phenotype -600321 phenotype 3406 -600322 gene 6616 SNAP25 ENSG00000132639 -600323 gene 5996 RGS1 ENSG00000090104 -600324 gene 6374 CXCL5 ENSG00000163735 -600325 phenotype -600326 gene 1656 DDX6 ENSG00000110367 -600327 gene 84258 SYT3 ENSG00000213023 -600328 gene 4302 MLLT6 ENSG00000275023 -600329 predominantly phenotypes -600330 moved/removed -600331 predominantly phenotypes -600332 phenotype 6022 -600333 predominantly phenotypes -600334 phenotype -600335 predominantly phenotypes -600336 gene 6572 SLC18A3 ENSG00000187714 -600337 gene 623 BDKRB1 ENSG00000100739 -600338 gene 13 AADAC ENSG00000114771 -600339 gene 3068 HDGF ENSG00000143321 -600340 gene 51090 PLLP ENSG00000102934 -600341 gene 7301 TYRO3 ENSG00000092445 -600342 gene 5995 RGR ENSG00000148604 -600343 phenotype -600344 moved/removed -600345 gene 685 BTC ENSG00000174808 -600346 gene 7703 PCGF2 ENSG00000277258 -600347 gene 63827 BCAN ENSG00000132692 -600348 phenotype -600349 gene 3397 ID1 ENSG00000125968 -600350 moved/removed -600351 predominantly phenotypes -600352 moved/removed -600353 gene 6278 S100A7 ENSG00000143556 -600354 gene 6606 SMN1 ENSG00000172062 -600355 gene 4671 NAIP ENSG00000249437 -600356 predominantly phenotypes -600357 gene 6202 RPS8 ENSG00000142937 -600358 gene 8833 GMPS ENSG00000163655 -600359 gene 3758 KCNJ1 ENSG00000151704 -600360 phenotype -600361 phenotype 101059903 -600362 gene 2314 FLII ENSG00000177731 -600363 phenotype -600364 gene 2978 GUCA1A ENSG00000048545 -600365 gene 29 ABR ENSG00000159842 -600366 gene 3670 ISL1 ENSG00000016082 -600367 gene 1479 CSTF3 ENSG00000176102 -600368 moved/removed -600369 gene 1477 CSTF1 ENSG00000101138 -600370 gene 5250 SLC25A3 ENSG00000075415 -600371 moved/removed -600372 gene 121441 NEDD1 ENSG00000139350 -600373 phenotype -600374 gene 585 BBS4 ENSG00000140463 -600375 gene 7516 XRCC2 ENSG00000196584 -600376 phenotype -600377 gene 2587 GALR1 ENSG00000166573 -600378 gene 10989 IMMT ENSG00000132305 -600379 gene 4661 MYT1 ENSG00000196132 -600380 gene 7376 NR1H2 ENSG00000131408 -600381 gene 3895 KTN1 ENSG00000126777 -600382 gene 10260 DENND4A ENSG00000174485 -600383 phenotype -600384 phenotype -600385 gene 113 ADCY7 ENSG00000121281 -600386 gene 3398 ID2 ENSG00000115738 -600387 gene 683 BST1 ENSG00000109743 -600388 gene 4224 MEP1A ENSG00000112818 -600389 gene 4225 MEP1B ENSG00000141434 -600390 gene 7392 USF2 ENSG00000105698 -600391 gene 2650 GCNT1 ENSG00000187210 -600392 gene 5893 RAD52 ENSG00000002016 -600393 gene 2237 FEN1 ENSG00000168496 -600394 moved/removed -600395 gene 2817 GPC1 ENSG00000063660 -600396 gene 1659 DHX8 ENSG00000067596 -600397 gene 3745 KCNB1 ENSG00000158445 -600398 gene 90338 ZNF160 ENSG00000170949 -600399 phenotype -600400 gene 5550 PREP ENSG00000085377 -600401 moved/removed -600402 moved/removed -600403 gene 2191 FAP ENSG00000078098 -600404 gene 5982 RFC2 ENSG00000049541 -600405 gene 5983 RFC3 ENSG00000133119 -600406 moved/removed -600407 gene 5985 RFC5 ENSG00000111445 -600408 gene 780 DDR1 ENSG00000204580 -600409 gene 5467 PPARD ENSG00000112033 -600410 gene 7130 TNFAIP6 ENSG00000123610 -600411 gene 2633 GBP1 ENSG00000117228 -600412 gene 2634 GBP2 ENSG00000162645 -600413 gene 2635 GBP3 ENSG00000117226 -600414 gene 5830 PEX5 ENSG00000139197 -600415 gene 7274 TTPA ENSG00000137561 -600416 predominantly phenotypes -600417 gene 22978 NT5C2 ENSG00000076685 -600418 gene 273 AMPH ENSG00000078053 -600419 predominantly phenotypes -600420 moved/removed -600421 gene 8001 GLRA3 ENSG00000145451 -600422 gene 2172 FABP6 ENSG00000170231 -600423 gene 1889 ECE1 ENSG00000117298 -600424 gene 6573 SLC19A1 ENSG00000173638 -600425 moved/removed -600426 gene 1870 E2F2 ENSG00000007968 -600427 gene 1871 E2F3 ENSG00000112242 -600428 gene 7410 VAV2 ENSG00000160293 -600429 gene 2651 GCNT2 ENSG00000111846 -600430 phenotype -600431 gene 1030 CDKN2B ENSG00000147883 -600432 gene 869 CBLN1 ENSG00000102924 -600433 gene 147381 CBLN2 ENSG00000141668 -600434 gene 2167 FABP4 ENSG00000170323 -600435 gene 1489 CTF1 ENSG00000150281 -600436 gene 2952 GSTT1 -600437 gene 2953 GSTT2 ENSG00000099984 -600438 gene 7019 TFAM ENSG00000108064 -600439 gene 6742 SSBP1 ENSG00000106028 -600440 gene 2021 ENDOG ENSG00000167136 -600441 gene 2621 GAS6 ENSG00000183087 -600442 gene 362 AQP5 ENSG00000161798 -600443 gene 2745 GLRX ENSG00000173221 -600444 gene 6526 SLC5A3 ENSG00000198743 -600445 gene 140 ADORA3 ENSG00000282608 -600446 gene 136 ADORA2B ENSG00000170425 -600447 gene 7786 MAP3K12 ENSG00000139625 -600448 gene 5588 PRKCQ ENSG00000065675 -600449 gene 1645 AKR1C1 ENSG00000187134 -600450 gene 1646 AKR1C2 ENSG00000151632 -600451 gene 1109 AKR1C4 ENSG00000198610 -600452 moved/removed -600453 gene 7706 TRIM25 ENSG00000121060 -600454 gene 6188 RPS3 ENSG00000149273 -600455 gene 6079 SNORD15A ENSG00000206941 -600456 gene 4915 NTRK2 ENSG00000148053 -600457 predominantly phenotypes -600458 predominantly phenotypes -600459 predominantly phenotypes -600460 predominantly phenotypes -600461 predominantly phenotypes -600462 phenotype -600463 gene 220 ALDH1A3 ENSG00000184254 -600464 gene 382 ARF6 ENSG00000165527 -600465 gene 288 ANK3 ENSG00000151150 -600466 gene 221 ALDH3B1 ENSG00000006534 -600467 phenotype 4265 -600468 moved/removed -600469 gene 4686 NCBP1 ENSG00000136937 -600470 gene 7545 ZIC1 ENSG00000152977 -600471 gene 1671 DEFA6 ENSG00000164822 -600472 gene 1670 DEFA5 ENSG00000164816 -600473 gene 5813 PURA ENSG00000185129 -600474 gene 820 CAMP ENSG00000164047 -600475 gene 6881 TAF10 ENSG00000166337 -600476 moved/removed -600477 gene 6553 SLC9A5 ENSG00000135740 -600478 gene 6499 SKIV2L ENSG00000204351 -600479 moved/removed -600480 gene 6938 TCF12 ENSG00000140262 -600481 gene 6721 SREBF2 ENSG00000198911 -600482 moved/removed -600483 gene 2253 FGF8 ENSG00000107831 -600484 moved/removed -600485 moved/removed -600486 moved/removed -600487 gene 54760 PCSK4 ENSG00000115257 -600488 gene 5125 PCSK5 ENSG00000099139 -600489 gene 4772 NFATC1 ENSG00000131196 -600490 gene 4773 NFATC2 ENSG00000101096 -600491 gene 4238 MFAP3 ENSG00000037749 -600492 gene 4780 NFE2L2 ENSG00000116044 -600493 gene 2015 ADGRE1 ENSG00000174837 -600494 gene 5454 POU3F2 ENSG00000184486 -600495 gene 1981 EIF4G1 ENSG00000114867 -600496 phenotype -600497 gene 5563 PRKAA2 ENSG00000162409 -600498 moved/removed -600499 moved/removed -600500 moved/removed -600501 phenotype -600502 gene 3508 IGHMBP2 ENSG00000132740 -600503 gene 10923 SUB1 ENSG00000113387 -600504 gene 3761 KCNJ4 ENSG00000168135 -600505 gene 1452 CSNK1A1 ENSG00000113712 -600506 moved/removed -600507 moved/removed -600508 gene 4690 NCK1 ENSG00000158092 -600509 gene 6833 ABCC8 ENSG00000006071 -600510 phenotype 7986 -600511 phenotype 6365 -600512 phenotype -600513 phenotype -600514 gene 5649 RELN ENSG00000189056 -600515 gene 64805 P2RY12 ENSG00000169313 -600516 gene 578 BAK1 ENSG00000030110 -600517 gene 6317 SERPINB3 ENSG00000057149 -600518 gene 6318 SERPINB4 ENSG00000206073 -600519 gene 2958 GTF2A2 ENSG00000140307 -600520 gene 2957 GTF2A1 ENSG00000165417 -600521 gene 5648 MASP1 ENSG00000127241 -600522 gene 5321 PLA2G4A ENSG00000116711 -600523 gene 4891 SLC11A2 ENSG00000110911 -600524 gene 6259 RYK ENSG00000163785 -600525 gene 1747 DLX3 ENSG00000064195 -600526 gene 2011 MARK2 ENSG00000072518 -600527 gene 1948 EFNB2 ENSG00000125266 -600528 gene 1374 CPT1A ENSG00000110090 -600529 gene 549 AUH ENSG00000148090 -600530 gene 6549 SLC9A2 ENSG00000115616 -600531 gene 389015 SLC9A4 ENSG00000180251 -600532 gene 4729 NDUFV2 ENSG00000178127 -600533 gene 57216 VANGL2 ENSG00000162738 -600534 gene 684 BST2 ENSG00000130303 -600535 gene 4223 MEOX2 ENSG00000106511 -600536 gene 3679 ITGA7 ENSG00000135424 -600537 gene 5965 RECQL ENSG00000004700 -600538 gene 7001 PRDX2 ENSG00000167815 -600539 gene 5584 PRKCI ENSG00000163558 -600540 gene 6671 SP4 ENSG00000105866 -600541 gene 2115 ETV1 ENSG00000006468 -600542 gene 8013 NR4A3 ENSG00000119508 -600543 gene 2066 ERBB4 ENSG00000178568 -600544 gene 6564 SLC15A1 ENSG00000088386 -600545 moved/removed -600546 predominantly phenotypes -600547 gene 883 KYAT1 ENSG00000171097 -600548 gene 3313 HSPA9 ENSG00000113013 -600549 gene 3550 IK ENSG00000113141 -600550 gene 1519 CTSO ENSG00000256043 -600551 gene 2828 GPR4 ENSG00000177464 -600552 gene 2829 XCR1 ENSG00000173578 -600553 gene 2830 GPR6 ENSG00000146360 -600554 gene 3600 IL15 ENSG00000164136 -600555 gene 6772 STAT1 ENSG00000115415 -600556 gene 6773 STAT2 ENSG00000170581 -600557 moved/removed -600558 gene 6775 STAT4 ENSG00000138378 -600559 predominantly phenotypes -600560 gene 6464 SHC1 ENSG00000160691 -600561 predominantly phenotypes -600562 gene 1010 CDH12 ENSG00000154162 -600563 gene 5737 PTGFR ENSG00000122420 -600564 gene 3700 ITIH4 ENSG00000055955 -600565 gene 9378 NRXN1 ENSG00000179915 -600566 gene 9379 NRXN2 ENSG00000110076 -600567 gene 9369 NRXN3 ENSG00000021645 -600568 gene 22871 NLGN1 ENSG00000169760 -600569 moved/removed -600570 gene 1181 CLCN2 ENSG00000114859 -600571 gene 5978 REST ENSG00000084093 -600572 gene 6432 SRSF7 ENSG00000115875 -600573 gene 6879 TAF7 ENSG00000178913 -600574 gene 8216 LZTR1 ENSG00000099949 -600575 gene 7247 TSN ENSG00000211460 -600576 gene 2626 GATA4 ENSG00000136574 -600577 gene 8022 LHX3 ENSG00000107187 -600578 gene 7932 OR2H2 ENSG00000204657 -600579 gene 5800 PTPRO ENSG00000151490 -600580 gene 1182 CLCN3 ENSG00000109572 -600581 gene 3400 ID4 ENSG00000172201 -600582 gene 444 ASPH ENSG00000198363 -600583 gene 7006 TEC ENSG00000135605 -600584 gene 1482 NKX2-5 ENSG00000183072 -600585 gene 7047 TGM4 ENSG00000163810 -600586 gene 1894 ECT2 ENSG00000114346 -600587 gene 22932 POMZP3 ENSG00000146707 -600588 moved/removed -600589 gene 6722 SRF ENSG00000112658 -600590 gene 5500 PPP1CB ENSG00000213639 -600591 gene 6617 SNAPC1 ENSG00000023608 -600592 gene 4176 MCM7 ENSG00000166508 -600593 phenotype 7885 -600594 gene 9993 DGCR2 ENSG00000070413 -600595 gene 8100 IFT88 ENSG00000032742 -600596 gene 4239 MFAP4 ENSG00000166482 -600597 gene 5334 PLCL1 ENSG00000115896 -600598 predominantly phenotypes -600599 gene 10661 KLF1 ENSG00000105610 -600600 gene 2047 EPHB1 ENSG00000154928 -600601 moved/removed -600602 moved/removed -600603 moved/removed -600604 moved/removed -600605 gene 4580 MTX1 ENSG00000173171 -600606 moved/removed -600607 gene 6944 VPS72 ENSG00000163159 -600608 gene 8974 P4HA2 ENSG00000072682 -600609 gene 2551 GABPA ENSG00000154727 -600610 gene 2553 GABPB1 ENSG00000104064 -600611 gene 2288 FKBP4 ENSG00000004478 -600612 moved/removed -600613 gene 4681 NBL1 ENSG00000158747 -600614 gene 6286 S100P ENSG00000163993 -600615 gene 3963 LGALS7 ENSG00000205076 -600616 gene 4060 LUM ENSG00000139329 -600617 gene 6770 STAR ENSG00000147465 -600618 gene 2120 ETV6 ENSG00000139083 -600619 moved/removed -600620 gene 2281 FKBP1B ENSG00000119782 -600621 gene 11075 STMN2 ENSG00000104435 -600622 moved/removed -600623 gene 3732 CD82 ENSG00000085117 -600624 phenotype 1319 -600625 phenotype -600626 gene 3959 LGALS3BP ENSG00000108679 -600627 phenotype -600628 predominantly phenotypes -600629 gene 3112 HLA-DOB ENSG00000241106 -600630 phenotype -600631 phenotype 2031 -600632 gene 4978 OPCML ENSG00000183715 -600633 gene 7033 TFF3 ENSG00000160180 -600634 moved/removed -600635 gene 7080 NKX2-1 ENSG00000136352 -600636 gene 836 CASP3 ENSG00000164305 -600637 gene 6511 SLC1A6 ENSG00000105143 -600638 phenotype -600639 gene 835 CASP2 ENSG00000106144 -600640 moved/removed -600641 gene 6818 SULT1A3 ENSG00000261052 -600642 gene 64005 MYO1G ENSG00000136286 -600643 predominantly phenotypes -600644 gene 5818 NECTIN1 ENSG00000110400 -600645 moved/removed -600646 gene 10544 PROCR ENSG00000101000 -600647 gene 3167 HMX2 ENSG00000188816 -600648 moved/removed -600649 phenotype -600650 gene 1376 CPT2 ENSG00000157184 -600651 phenotype -600652 phenotype -600653 moved/removed -600654 gene 5720 PSME1 ENSG00000092010 -600655 gene 1933 EEF1B2 ENSG00000114942 -600656 moved/removed -600657 moved/removed -600658 gene 5536 PPP5C ENSG00000011485 -600659 gene 1874 E2F4 ENSG00000205250 -600660 gene 4205 MEF2A ENSG00000068305 -600661 gene 100271849 MEF2B ENSG00000213999 -600662 gene 4208 MEF2C ENSG00000081189 -600663 gene 4209 MEF2D ENSG00000116604 -600664 gene 1147 CHUK ENSG00000213341 -600665 gene 4543 MTNR1A ENSG00000168412 -600666 phenotype -600667 gene 2535 FZD2 ENSG00000180340 -600668 phenotype 882 -600669 phenotype 1957 -600670 predominantly phenotypes -600671 moved/removed -600672 moved/removed -600673 gene 7343 UBTF ENSG00000108312 -600674 phenotype -600675 gene 7517 XRCC3 ENSG00000126215 -600676 gene 856 CATR1 -600677 moved/removed -600678 gene 2956 MSH6 ENSG00000116062 -600679 predominantly phenotypes -600680 moved/removed -600681 gene 3759 KCNJ2 ENSG00000123700 -600682 gene 6566 SLC16A1 ENSG00000155380 -600683 moved/removed -600684 gene 4063 LY9 ENSG00000122224 -600685 gene 3838 KPNA2 ENSG00000182481 -600686 gene 3836 KPNA1 ENSG00000114030 -600687 gene 7074 TIAM1 ENSG00000156299 -600688 gene 1358 CPA2 ENSG00000158516 -600689 moved/removed -600690 gene 6988 TCTA ENSG00000145022 -600691 gene 376497 SLC27A1 ENSG00000130304 -600692 gene 7140 TNNT3 ENSG00000130595 -600693 gene 5725 PTBP1 ENSG00000011304 -600694 gene 3572 IL6ST ENSG00000134352 -600695 moved/removed -600696 gene 1891 ECH1 ENSG00000104823 -600697 gene 5929 RBBP5 ENSG00000117222 -600698 gene 8091 HMGA2 ENSG00000149948 -600699 moved/removed -600700 gene 4026 LPP ENSG00000145012 -600701 gene 3159 HMGA1 ENSG00000137309 -600702 gene 6334 SCN8A ENSG00000196876 -600703 predominantly phenotypes -600704 moved/removed -600705 predominantly phenotypes -600706 predominantly phenotypes -600707 gene 6726 SRP9 ENSG00000143742 -600708 gene 6727 SRP14 ENSG00000140319 -600709 gene 3376 IARS1 ENSG00000196305 -600710 moved/removed -600711 gene 2118 ETV4 ENSG00000175832 -600712 gene 3190 HNRNPK ENSG00000165119 -600713 gene 3290 HSD11B1 ENSG00000117594 -600714 gene 1843 DUSP1 ENSG00000120129 -600715 gene 7060 THBS4 ENSG00000113296 -600716 gene 26191 PTPN22 ENSG00000134242 -600717 moved/removed -600718 moved/removed -600719 gene 201288 NOS2P2 -600720 predominantly phenotypes 645740 NOS2P1 -600721 phenotype -600722 gene 5538 PPT1 ENSG00000131238 -600723 gene 4355 MPP2 ENSG00000108852 -600724 gene 1258 CNGB1 ENSG00000070729 -600725 gene 6469 SHH ENSG00000164690 -600726 gene 3549 IHH ENSG00000163501 -600727 gene 4774 NFIA ENSG00000162599 -600728 gene 4781 NFIB ENSG00000147862 -600729 gene 4782 NFIC ENSG00000141905 -600730 gene 2831 NPBWR1 ENSG00000288611 -600731 gene 2832 NPBWR2 ENSG00000125522 -600732 gene 379 ARL4D ENSG00000175906 -600733 gene 3651 PDX1 ENSG00000139515 -600734 gene 3762 KCNJ5 ENSG00000120457 -600735 gene 3430 IFI35 ENSG00000068079 -600736 predominantly phenotypes -600737 moved/removed -600738 gene 6404 SELPLG ENSG00000110876 -600739 gene 6466 SHC1P2 -600740 phenotype -600741 moved/removed -600742 gene 7049 TGFBR3 ENSG00000069702 -600743 gene 7023 TFAP4 ENSG00000090447 -600744 gene 7942 TFEB ENSG00000112561 -600745 gene 346 APOC4 ENSG00000267467 -600746 gene 1044 CDX1 ENSG00000113722 -600747 gene 6909 TBX2 ENSG00000121068 -600748 gene 7009 TMBIM6 ENSG00000139644 -600749 gene 1053 CEBPE ENSG00000092067 -600750 gene 4885 NPTX2 ENSG00000106236 -600751 gene 6614 SIGLEC1 ENSG00000088827 -600752 gene 2835 GPR12 ENSG00000132975 -600753 gene 2734 GLG1 ENSG00000090863 -600754 gene 4323 MMP14 ENSG00000157227 -600755 gene 6854 SYN2 ENSG00000157152 -600756 gene 5524 PTPA ENSG00000119383 -600757 phenotype 4965 -600758 gene 5747 PTK2 ENSG00000169398 -600759 gene 5664 PSEN2 ENSG00000143801 -600760 gene 6338 SCNN1B ENSG00000168447 -600761 gene 6340 SCNN1G ENSG00000166828 -600762 predominantly phenotypes -600763 gene 7178 TPT1 ENSG00000133112 -600764 gene 3140 MR1 ENSG00000153029 -600765 moved/removed -600766 moved/removed -600767 gene 2665 GDI2 ENSG00000057608 -600768 gene 5780 PTPN9 ENSG00000169410 -600769 gene 7103 TSPAN8 ENSG00000127324 -600770 gene 727897 MUC5B ENSG00000117983 -600771 phenotype -600772 gene 6882 TAF11 ENSG00000064995 -600773 gene 6883 TAF12 ENSG00000120656 -600774 gene 6884 TAF13 ENSG00000197780 -600775 phenotype -600776 predominantly phenotypes -600777 gene 7270 TTF1 ENSG00000125482 -600778 gene 1027 CDKN1B ENSG00000111276 -600779 moved/removed -600780 moved/removed -600781 gene 5697 PYY ENSG00000131096 -600782 gene 6861 SYT5 ENSG00000129990 -600783 gene 23438 HARS2 ENSG00000112855 -600784 gene 3003 GZMK ENSG00000113088 -600785 phenotype -600786 gene 6924 ELOA ENSG00000011007 -600787 gene 6923 ELOB ENSG00000103363 -600788 gene 6921 ELOC ENSG00000154582 -600789 gene 6150 MRPL23 ENSG00000214026 -600790 phenotype -600791 phenotype -600792 phenotype 1697 -600793 moved/removed -600794 phenotype -600795 phenotype -600796 gene 8175 SF3A2 ENSG00000104897 -600797 gene 8660 IRS2 ENSG00000185950 -600798 gene 5819 NECTIN2 ENSG00000130202 -600799 gene 659 BMPR2 ENSG00000204217 -600800 gene 4664 NAB1 ENSG00000138386 -600801 predominantly phenotypes -600802 phenotype -600803 phenotype -600804 gene 4544 MTNR1B ENSG00000134640 -600805 gene 3909 LAMA3 ENSG00000053747 -600806 gene 1264 CNN1 ENSG00000130176 -600807 phenotype -600808 phenotype 2032 -600809 moved/removed -600810 gene 5332 PLCB4 ENSG00000101333 -600811 gene 1643 DDB2 ENSG00000134574 -600812 gene 6426 SRSF1 ENSG00000136450 -600813 gene 6427 SRSF2 ENSG00000161547 -600814 gene 4361 MRE11 ENSG00000020922 -600815 gene 5425 POLD2 ENSG00000106628 -600816 gene 3312 HSPA8 ENSG00000109971 -600817 gene 7447 VSNL1 ENSG00000163032 -600818 gene 6876 TAGLN ENSG00000149591 -600819 gene 8087 FXR1 ENSG00000114416 -600820 gene 372 ARCN1 ENSG00000095139 -600821 gene 552 AVPR1A ENSG00000166148 -600822 gene 6880 TAF9 ENSG00000273841 -600823 gene 5652 PRSS8 ENSG00000052344 -600824 gene 8048 CSRP3 ENSG00000129170 -600825 gene 6095 RORA ENSG00000069667 -600826 gene 1463 NCAN ENSG00000130287 -600827 gene 5146 PDE6C ENSG00000095464 -600828 gene 539 ATP5PO ENSG00000241837 -600829 gene 3636 INPPL1 ENSG00000165458 -600830 gene 7726 TRIM26 ENSG00000234127 -600831 gene 1612 DAPK1 ENSG00000196730 -600832 gene 8125 ANP32A ENSG00000140350 -600833 gene 7982 ST7 ENSG00000004866 -600834 gene 7718 ZNF165 ENSG00000197279 -600835 gene 6387 CXCL12 ENSG00000107562 -600836 gene 1412 CRYBA2 ENSG00000163499 -600837 gene 2668 GDNF ENSG00000168621 -600838 gene 8456 FOXN1 ENSG00000109101 -600839 gene 6557 SLC12A1 ENSG00000074803 -600840 gene 6558 SLC12A2 ENSG00000064651 -600841 predominantly phenotypes -600842 gene 2646 GCKR ENSG00000084734 -600843 gene 5024 P2RX3 ENSG00000109991 -600844 gene 22953 P2RX2 ENSG00000187848 -600845 gene 5023 P2RX1 ENSG00000108405 -600846 gene 5025 P2RX4 ENSG00000135124 -600847 moved/removed -600848 gene 9612 NCOR2 ENSG00000196498 -600849 gene 9611 NCOR1 ENSG00000141027 -600850 phenotype -600851 predominantly phenotypes -600852 phenotype -600853 gene 3340 NDST1 ENSG00000070614 -600854 moved/removed -600855 gene 1859 DYRK1A ENSG00000157540 -600856 gene 1028 CDKN1C ENSG00000129757 -600857 gene 6389 SDHA ENSG00000073578 -600858 phenotype -600859 gene 7965 AIMP2 ENSG00000106305 -600860 gene 2971 GTF3A ENSG00000122034 -600861 gene 5997 RGS2 ENSG00000116741 -600862 gene 3267 AGFG1 ENSG00000173744 -600863 gene 1454 CSNK1E ENSG00000213923 -600864 gene 1453 CSNK1D ENSG00000141551 -600865 gene 6252 RTN1 ENSG00000139970 -600866 gene 5134 PDCD2 ENSG00000071994 -600867 gene 6746 SSR2 ENSG00000163479 -600868 gene 6745 SSR1 ENSG00000124783 -600869 gene 2870 GRK6 ENSG00000198055 -600870 gene 2869 GRK5 ENSG00000198873 -600871 gene 2672 GFI1 ENSG00000162676 -600872 moved/removed -600873 gene 1486 CTBS ENSG00000117151 -600874 gene 2787 GNG5 ENSG00000174021 -600875 gene 97 ACYP1 ENSG00000119640 -600876 gene 6809 STX3 ENSG00000166900 -600877 gene 3763 KCNJ6 ENSG00000157542 -600878 moved/removed -600879 gene 4899 NRF1 ENSG00000106459 -600880 phenotype -600881 phenotype -600882 phenotype -600883 phenotype 3407 -600884 phenotype 1218 -600885 moved/removed -600886 phenotype -600887 gene 4437 MSH3 ENSG00000113318 -600888 gene 7984 ARHGEF5 ENSG00000050327 -600889 gene 3080 CFHR2 ENSG00000080910 -600890 gene 3030 HADHA ENSG00000084754 -600891 moved/removed -600892 gene 6493 SIM2 ENSG00000159263 -600893 moved/removed -600894 moved/removed -600895 gene 2834 PRLHR ENSG00000119973 -600896 gene 2837 UTS2R ENSG00000181408 -600897 gene 2703 GJA8 ENSG00000121634 -600898 gene 6664 SOX11 ENSG00000176887 -600899 gene 5591 PRKDC ENSG00000253729 -600900 gene 6443 SGCB ENSG00000163069 -600901 phenotype -600902 gene 22929 SEPHS1 ENSG00000086475 -600903 predominantly phenotypes -600904 gene 460 ASTN1 ENSG00000152092 -600905 moved/removed -600906 predominantly phenotypes -600907 predominantly phenotypes -600908 predominantly phenotypes -600909 gene 4047 LSS ENSG00000160285 -600910 gene 3641 INSL4 ENSG00000120211 -600911 gene 744 MPPED2 ENSG00000066382 -600912 gene 6941 TCF19 ENSG00000137310 -600913 moved/removed -600914 gene 6430 SRSF5 ENSG00000100650 -600915 gene 10763 NES ENSG00000132688 -600916 gene 3631 INPP4A ENSG00000040933 -600917 gene 5506 PPP1R3A ENSG00000154415 -600918 moved/removed -600919 phenotype -600920 phenotype -600921 gene 2254 FGF9 ENSG00000102678 -600922 gene 4638 MYLK ENSG00000065534 -600923 gene 5498 PPOX ENSG00000143224 -600924 gene 2671 GFER ENSG00000127554 -600925 gene 5795 PTPRJ ENSG00000149177 -600926 gene 5791 PTPRE ENSG00000132334 -600927 gene 1032 CDKN2D ENSG00000129355 -600928 gene 8131 NPRL3 ENSG00000103148 -600929 gene 1414 CRYBB1 ENSG00000100122 -600930 gene 6677 SPAM1 ENSG00000106304 -600931 predominantly phenotypes -600932 gene 3765 KCNJ9 ENSG00000162728 -600933 gene 2150 F2RL1 ENSG00000164251 -600934 gene 2346 FOLH1 ENSG00000086205 -600935 gene 3764 KCNJ8 ENSG00000121361 -600936 gene 3161 HMMR ENSG00000072571 -600937 gene 3767 KCNJ11 ENSG00000187486 -600938 gene 5930 RBBP6 ENSG00000122257 -600939 gene 3590 IL11RA ENSG00000137070 -600940 gene 3980 LIG3 ENSG00000005156 -600941 gene 645 BLVRB ENSG00000090013 -600942 moved/removed -600943 gene 871 SERPINH1 ENSG00000149257 -600944 gene 1725 DHPS ENSG00000095059 -600945 gene 7349 UCN ENSG00000163794 -600946 gene 2690 GHR ENSG00000112964 -600947 gene 9001 HAP1 ENSG00000173805 -600948 gene 4336 MOBP ENSG00000168314 -600949 gene -600950 gene 15 AANAT ENSG00000129673 -600951 gene 7013 TERF1 ENSG00000147601 -600952 predominantly phenotypes -600953 gene 3606 IL18 ENSG00000150782 -600954 gene 1611 DAP ENSG00000112977 -600955 phenotype -600956 gene 269 AMHR2 ENSG00000135409 -600957 gene 268 AMH ENSG00000104899 -600958 gene 4607 MYBPC3 ENSG00000134571 -600959 gene 1315 COPB1 ENSG00000129083 -600960 gene 6418 SET ENSG00000119335 -600961 moved/removed -600962 phenotype -600963 gene 147912 SIX5 ENSG00000177045 -600964 moved/removed -600965 phenotype -600966 gene 3996 LLGL1 ENSG00000131899 -600967 gene 1875 E2F5 ENSG00000133740 -600968 gene 6559 SLC12A3 ENSG00000070915 -600969 phenotype -600970 gene 4646 MYO6 ENSG00000196586 -600971 phenotype -600972 phenotype -600973 moved/removed -600974 phenotype -600975 phenotype 2728 -600976 gene 2195 FAT1 ENSG00000083857 -600977 phenotype -600978 gene 4050 LTB ENSG00000227507 -600979 gene 4055 LTBR ENSG00000111321 -600980 gene 1758 DMP1 ENSG00000152592 -600981 gene 5239 PGM5 ENSG00000154330 -600982 gene 4214 MAP3K1 ENSG00000095015 -600983 gene 4306 NR3C2 ENSG00000151623 -600984 gene 1388 ATF6B ENSG00000213676 -600985 gene 7148 TNXB ENSG00000168477 -600986 gene 80128 TRIM46 ENSG00000163462 -600987 phenotype -600988 gene 4122 MAN2A2 ENSG00000196547 -600989 predominantly phenotypes -600990 moved/removed -600991 predominantly phenotypes -600992 moved/removed -600993 gene 4089 SMAD4 ENSG00000141646 -600994 phenotype -600995 phenotype -600996 phenotype -600997 gene 2048 EPHB2 ENSG00000133216 -600998 gene 2776 GNAQ ENSG00000156052 -600999 gene 4150 MAZ ENSG00000103495 -601000 moved/removed -601001 phenotype -601002 gene 2937 GSS ENSG00000100983 -601003 phenotype -601004 predominantly phenotypes -601005 phenotype -601006 moved/removed -601007 gene 3953 LEPR ENSG00000116678 -601008 moved/removed -601009 gene 7082 TJP1 ENSG00000104067 -601010 gene 6939 TCF15 ENSG00000125878 -601011 gene 773 CACNA1A ENSG00000141837 -601012 gene 774 CACNA1B ENSG00000148408 -601013 gene 777 CACNA1E ENSG00000198216 -601014 gene 1739 DLG1 ENSG00000075711 -601015 gene 10577 NPC2 ENSG00000119655 -601016 predominantly phenotypes -601017 gene 6640 SNTA1 ENSG00000101400 -601018 moved/removed -601019 gene 6536 SLC6A9 ENSG00000196517 -601020 gene 942 CD86 ENSG00000114013 -601021 gene 4928 NUP98 ENSG00000110713 -601022 gene 4795 NFKBIL1 ENSG00000204498 -601023 gene 7415 VCP ENSG00000165280 -601024 gene 1173 AP2M1 ENSG00000161203 -601025 gene 163 AP2B1 ENSG00000006125 -601026 gene 160 AP2A1 ENSG00000196961 -601027 predominantly phenotypes -601028 gene 961 CD47 ENSG00000196776 -601029 gene 4232 MEST ENSG00000106484 -601030 gene 6038 RNASE4 ENSG00000258818 -601031 gene 114822 RHPN1 ENSG00000158106 -601032 gene 5585 PKN1 ENSG00000123143 -601033 gene 3911 LAMA5 ENSG00000130702 -601034 moved/removed -601035 gene 3187 HNRNPH1 ENSG00000169045 -601036 moved/removed -601037 gene 3185 HNRNPF ENSG00000169813 -601038 gene 1735 DIO3 ENSG00000197406 -601039 predominantly phenotypes -601040 gene 949 SCARB1 ENSG00000073060 -601041 gene 7089 TLE2 ENSG00000065717 -601042 phenotype -601043 moved/removed -601044 moved/removed -601045 gene 1500 CTNND1 ENSG00000198561 -601046 gene 4321 MMP12 ENSG00000262406 -601047 gene 857 CAV1 ENSG00000105974 -601048 gene 858 CAV2 ENSG00000105971 -601049 moved/removed -601050 moved/removed -601051 gene 10232 MSLN ENSG00000102854 -601052 gene 5300 PIN1 ENSG00000127445 -601053 gene 5364 PLXNB1 ENSG00000164050 -601054 gene 5362 PLXNA2 ENSG00000076356 -601055 gene 5361 PLXNA1 ENSG00000114554 -601056 gene 597 BCL2A1 ENSG00000140379 -601057 gene 10016 PDCD6 ENSG00000249915 -601058 gene 3021 H3-3B ENSG00000132475 -601059 moved/removed -601060 gene 5168 ENPP2 ENSG00000136960 -601061 gene 6633 SNRPD2 ENSG00000125743 -601062 gene 6634 SNRPD3 ENSG00000100028 -601063 gene 6632 SNRPD1 ENSG00000167088 -601064 gene 677 ZFP36L1 ENSG00000185650 -601065 gene 16 AARS1 ENSG00000090861 -601066 gene 5018 OXA1L ENSG00000155463 -601067 phenotype -601068 phenotype -601069 gene 8187 ZNF239 ENSG00000196793 -601070 gene 3601 IL15RA ENSG00000134470 -601071 phenotype -601072 phenotype -601073 moved/removed -601074 gene 10658 CELF1 ENSG00000149187 -601075 predominantly phenotypes -601076 phenotype -601077 gene 3881 KRT31 ENSG00000094796 -601078 gene 3888 KRT82 ENSG00000161850 -601079 predominantly phenotypes 7310 ZRSR2P1 ENSG00000212643 -601080 gene 199746 U2AF1L4 ENSG00000161265 -601081 gene 225 ABCD2 ENSG00000173208 -601082 gene 7328 UBE2H ENSG00000186591 -601083 predominantly phenotypes -601084 moved/removed -601085 moved/removed -601086 phenotype 207115 -601087 moved/removed -601088 phenotype -601089 gene 2294 FOXF1 ENSG00000103241 -601090 gene 2296 FOXC1 ENSG00000054598 -601091 gene 2297 FOXD1 ENSG00000251493 -601092 gene 2298 FOXD4 ENSG00000170122 -601093 gene 2299 FOXI1 ENSG00000168269 -601094 gene 2301 FOXE3 ENSG00000186790 -601095 predominantly phenotypes -601096 predominantly phenotypes -601097 gene 5376 PMP22 ENSG00000109099 -601098 phenotype -601099 gene 6503 SLA ENSG00000155926 -601100 gene 6782 HSPA13 ENSG00000155304 -601101 phenotype 780903 -601102 gene 1974 EIF4A2 ENSG00000156976 -601103 gene 8076 MFAP5 ENSG00000197614 -601104 phenotype -601105 gene 1513 CTSK ENSG00000143387 -601106 moved/removed -601107 gene 1244 ABCC2 ENSG00000023839 -601108 moved/removed -601109 gene 3362 HTR6 ENSG00000158748 -601110 phenotype -601111 moved/removed -601112 gene 7296 TXNRD1 ENSG00000198431 -601113 gene 3308 HSPA4 ENSG00000170606 -601114 gene 4356 MPP3 ENSG00000161647 -601115 gene 2913 GRM3 ENSG00000198822 -601116 gene 2918 GRM8 ENSG00000179603 -601117 gene 7064 THOP1 ENSG00000172009 -601118 gene 819 CAMLG ENSG00000164615 -601119 gene 8192 CLPP ENSG00000125656 -601120 gene 1003 CDH5 ENSG00000179776 -601121 gene 5228 PGF ENSG00000119630 -601122 gene 3357 HTR2B ENSG00000135914 -601123 gene 6489 ST8SIA1 ENSG00000111728 -601124 gene 6405 SEMA3F ENSG00000001617 -601125 gene 3099 HK2 ENSG00000159399 -601126 gene 7110 TMF1 ENSG00000144747 -601127 predominantly phenotypes -601128 gene 3020 H3-3A ENSG00000163041 -601129 gene 1558 CYP2C8 ENSG00000138115 -601130 gene 1559 CYP2C9 ENSG00000138109 -601131 gene 1562 CYP2C18 ENSG00000108242 -601132 gene 8844 KSR1 ENSG00000141068 -601133 gene 22952 CYP2G1P ENSG00000130612 -601134 gene 3703 STT3A ENSG00000134910 -601135 gene 2637 GBX2 ENSG00000168505 -601136 predominantly phenotypes 57324 -601137 moved/removed -601138 predominantly phenotypes 390226 GUCY2EP -601139 gene 7728 ZNF175 ENSG00000105497 -601140 gene 26472 PPP1R14B ENSG00000173457 -601141 gene 7881 KCNAB1 ENSG00000169282 -601142 gene 8514 KCNAB2 ENSG00000069424 -601143 gene 1639 DCTN1 ENSG00000204843 -601144 phenotype -601145 gene 1476 CSTB ENSG00000160213 -601146 gene 8200 GDF5 ENSG00000125965 -601147 gene 392255 GDF6 ENSG00000156466 -601148 gene 4184 SMCP ENSG00000163206 -601149 gene 3419 IDH3A ENSG00000166411 -601150 gene 1663 DDX11 ENSG00000013573 -601151 predominantly phenotypes 440081 DDX12P -601152 phenotype -601153 gene 2272 FHIT ENSG00000189283 -601154 phenotype -601155 gene 23526 ARHGAP45 ENSG00000180448 -601156 gene 6356 CCL11 ENSG00000172156 -601157 gene 1669 DEFA4 ENSG00000164821 -601158 gene 5599 MAPK8 ENSG00000107643 -601159 gene 1230 CCR1 ENSG00000163823 -601160 predominantly phenotypes -601161 predominantly phenotypes -601162 phenotype -601163 phenotype -601164 moved/removed -601165 predominantly phenotypes -601166 gene 2838 GPR15 ENSG00000154165 -601167 gene 5028 P2RY1 ENSG00000169860 -601168 gene 1809 DPYSL3 ENSG00000113657 -601169 moved/removed -601170 predominantly phenotypes -601171 moved/removed -601172 gene 1464 CSPG4 ENSG00000173546 -601173 moved/removed -601174 moved/removed -601175 gene 402 ARL2 ENSG00000213465 -601176 gene 2730 GCLM ENSG00000023909 -601177 gene 378 ARF4 ENSG00000168374 -601178 gene 4076 CAPRIN1 ENSG00000135387 -601179 gene 5901 RAN ENSG00000132341 -601180 gene 5902 RANBP1 ENSG00000099901 -601181 gene 5903 RANBP2 ENSG00000153201 -601182 gene 4999 ORC2 ENSG00000115942 -601183 gene 1397 CRIP2 ENSG00000182809 -601184 gene 5611 DNAJC3 ENSG00000102580 -601185 gene 6781 STC1 ENSG00000159167 -601186 phenotype -601187 predominantly phenotypes -601188 predominantly phenotypes -601189 gene 5441 POLR2L ENSG00000177700 -601190 gene 5149 PDE6H ENSG00000139053 -601191 gene 2079 ERH ENSG00000100632 -601192 gene 5322 PLA2G5 ENSG00000127472 -601193 gene 167 CRISP1 ENSG00000124812 -601194 gene 7096 TLR1 ENSG00000174125 -601195 predominantly phenotypes -601196 gene 7799 PRDM2 ENSG00000116731 -601197 gene 7275 TUB ENSG00000166402 -601198 phenotype -601199 gene 846 CASR ENSG00000036828 -601200 phenotype -601201 gene 7795 -601202 phenotype 1484 -601203 gene 9173 IL1RL1 ENSG00000115602 -601204 gene 5738 PTGFRN ENSG00000134247 -601205 gene 6495 SIX1 ENSG00000126778 -601206 gene 5450 POU2AF1 ENSG00000110777 -601207 gene 1609 DGKQ ENSG00000145214 -601208 phenotype 3410 -601209 gene 5093 PCBP1 ENSG00000169564 -601210 gene 5094 PCBP2 ENSG00000197111 -601211 gene 976 ADGRE5 ENSG00000123146 -601212 gene 2185 PTK2B ENSG00000120899 -601213 gene 6059 ABCE1 ENSG00000164163 -601214 phenotype -601215 gene 545 ATR ENSG00000175054 -601216 phenotype -601217 predominantly phenotypes -601218 gene 104 ADARB1 ENSG00000197381 -601219 moved/removed -601220 predominantly phenotypes -601221 predominantly phenotypes -601222 moved/removed -601223 predominantly phenotypes -601224 phenotype -601225 gene 8215 DVL1P1 -601226 moved/removed -601227 moved/removed -601228 phenotype -601229 moved/removed -601230 predominantly phenotypes -601231 gene 2475 MTOR ENSG00000198793 -601232 gene 5294 PIK3CG ENSG00000105851 -601233 gene 3626 INHBC ENSG00000175189 -601234 gene 4666 NACA ENSG00000196531 -601235 gene 1662 DDX10 ENSG00000178105 -601236 gene 1601 DAB2 ENSG00000153071 -601237 gene 7732 RNF112 ENSG00000128482 -601238 phenotype -601239 gene 1837 DTNA ENSG00000134769 -601240 gene 2593 GAMT ENSG00000130005 -601241 gene 3065 HDAC1 ENSG00000116478 -601242 gene 84557 MAP1LC3A ENSG00000101460 -601243 gene 7156 TOP3A ENSG00000177302 -601244 gene 2977 GUCY1A2 ENSG00000152402 -601245 gene 8208 CHAF1B ENSG00000159259 -601246 gene 10036 CHAF1A ENSG00000167670 -601247 gene 6655 SOS2 ENSG00000100485 -601248 gene 274 BIN1 ENSG00000136717 -601249 gene 5635 PRPSAP1 ENSG00000161542 -601250 gene 4482 MSRA ENSG00000175806 -601251 moved/removed -601252 gene 2219 FCN1 ENSG00000085265 -601253 gene 859 CAV3 ENSG00000182533 -601254 gene 5608 MAP2K6 ENSG00000108984 -601255 gene 547 KIF1A ENSG00000130294 -601256 moved/removed -601257 gene 1653 DDX1 ENSG00000079785 -601258 gene 1573 CYP2J2 ENSG00000134716 -601259 gene 258 AMBN ENSG00000178522 -601260 gene 7586 ZKSCAN1 ENSG00000106261 -601261 gene 7589 ZSCAN21 ENSG00000166529 -601262 gene 7564 ZNF16 ENSG00000170631 -601263 gene 5605 MAP2K2 ENSG00000126934 -601264 moved/removed -601265 gene 4838 NODAL ENSG00000156574 -601266 gene 1854 DUT ENSG00000128951 -601267 gene 729230 CCR2 ENSG00000121807 -601268 gene 1232 CCR3 ENSG00000183625 -601269 gene 708 C1QBP ENSG00000108561 -601270 gene 4051 CYP4F3 ENSG00000186529 -601271 gene 2981 GUCA2B ENSG00000044012 -601272 gene 6642 SNX1 ENSG00000028528 -601273 gene 8218 CLTCL1 ENSG00000070371 -601274 gene 22949 PTGR1 ENSG00000106853 -601275 gene 2823 GPM6A ENSG00000150625 -601276 gene 7730 ZNF177 ENSG00000188629 -601277 phenotype -601278 gene 2483 FRG1 ENSG00000109536 -601279 gene 8214 DGCR6 ENSG00000183628 -601280 gene 4081 MAB21L1 ENSG00000180660 -601281 gene 7869 SEMA3B ENSG00000012171 -601282 gene 5339 PLEC ENSG00000178209 -601283 phenotype -601284 gene 94 ACVRL1 ENSG00000139567 -601285 gene 7979 SEM1 ENSG00000127922 -601286 moved/removed -601287 phenotype -601288 gene 7534 YWHAZ ENSG00000164924 -601289 gene 7529 YWHAB ENSG00000166913 -601290 gene 2810 SFN ENSG00000175793 -601291 gene 7368 UGT8 ENSG00000174607 -601292 gene 6799 SULT1A2 ENSG00000197165 -601293 gene 6009 RHEB ENSG00000106615 -601294 moved/removed -601295 gene 6555 SLC10A2 ENSG00000125255 -601296 gene 4593 MUSK ENSG00000030304 -601297 gene 6665 SOX15 ENSG00000129194 -601298 moved/removed -601299 gene 657 BMPR1A ENSG00000107779 -601300 gene 91 ACVR1B ENSG00000135503 -601301 gene 51645 PPIL1 ENSG00000137168 -601302 gene 5534 PPP3R1 ENSG00000221823 -601303 gene 1155 TBCB ENSG00000105254 -601304 gene 4809 SNU13 ENSG00000100138 -601305 gene 3361 HTR5A ENSG00000157219 -601306 gene 3059 HCLS1 ENSG00000180353 -601307 moved/removed -601308 phenotype 8201 -601309 gene 5727 PTCH1 ENSG00000185920 -601310 gene 1579 CYP4A11 ENSG00000187048 -601311 gene 8435 SOAT2 ENSG00000167780 -601312 moved/removed -601313 gene 5310 PKD1 ENSG00000008710 -601314 gene 3094 HINT1 ENSG00000169567 -601315 predominantly phenotypes -601316 phenotype -601317 phenotype -601318 phenotype 3412 -601319 predominantly phenotypes -601320 moved/removed -601321 phenotype -601322 predominantly phenotypes -601323 gene 4924 NUCB1 ENSG00000104805 -601324 gene 3184 HNRNPD ENSG00000138668 -601325 gene 5067 CNTN3 ENSG00000113805 -601326 gene 5010 CLDN11 ENSG00000013297 -601327 gene 6327 SCN2B ENSG00000149575 -601328 gene 6339 SCNN1D ENSG00000162572 -601329 gene 3984 LIMK1 ENSG00000106683 -601330 gene 2984 GUCY2C ENSG00000070019 -601331 phenotype -601332 gene 283078 MKX ENSG00000150051 -601333 gene 6830 SUPT6H ENSG00000109111 -601334 gene 147700 KLC3 ENSG00000104892 -601335 gene 6416 MAP2K4 ENSG00000065559 -601336 gene 7841 MOGS ENSG00000115275 -601337 gene 5991 RFX3 ENSG00000080298 -601338 phenotype -601339 moved/removed -601340 gene 8190 MIA ENSG00000261857 -601341 predominantly phenotypes -601342 gene 1434 CSE1L ENSG00000124207 -601343 moved/removed -601344 predominantly phenotypes -601345 predominantly phenotypes -601346 phenotype -601347 predominantly phenotypes -601348 predominantly phenotypes -601349 phenotype -601350 predominantly phenotypes -601351 predominantly phenotypes -601352 predominantly phenotypes -601353 phenotype -601354 moved/removed -601355 predominantly phenotypes -601356 phenotype -601357 phenotype -601358 phenotype -601359 moved/removed -601360 phenotype -601361 gene 2662 GDF10 ENSG00000266524 -601362 phenotype 8026 -601363 phenotype 8151 -601364 gene 1012 CDH13 ENSG00000140945 -601365 gene 1855 DVL1 ENSG00000107404 -601366 gene 4087 SMAD2 ENSG00000175387 -601367 phenotype -601368 gene 1857 DVL3 ENSG00000161202 -601369 phenotype -601370 predominantly phenotypes -601371 predominantly phenotypes -601372 predominantly phenotypes -601373 gene 1234 CCR5 ENSG00000160791 -601374 predominantly phenotypes -601375 predominantly phenotypes -601376 predominantly phenotypes -601377 moved/removed -601378 moved/removed -601379 predominantly phenotypes -601380 gene 1945 EFNA4 ENSG00000243364 -601381 gene 1944 EFNA3 ENSG00000143590 -601382 phenotype -601383 gene 363 AQP6 ENSG00000086159 -601384 gene 4061 LY6E ENSG00000160932 -601385 gene 7991 TUSC3 ENSG00000104723 -601386 phenotype -601387 gene 7251 TSG101 ENSG00000074319 -601388 phenotype -601389 predominantly phenotypes -601390 phenotype -601391 gene 6357 CCL13 ENSG00000181374 -601392 gene 6358 CCL14 ENSG00000276409 -601393 gene 6359 CCL15 ENSG00000275718 -601394 gene 6360 CCL16 ENSG00000275152 -601395 gene 6349 CCL3L1 -601396 gene 7479 WNT8B ENSG00000075290 -601397 gene 6862 TBXT ENSG00000164458 -601398 gene 7423 VEGFB ENSG00000173511 -601399 phenotype -601400 moved/removed -601401 gene 8079 MLF2 ENSG00000089693 -601402 gene 4291 MLF1 ENSG00000178053 -601403 gene 1793 DOCK1 ENSG00000150760 -601404 gene 8111 GPR68 ENSG00000119714 -601405 gene 11330 CTRC ENSG00000162438 -601406 gene 605 BCL7A ENSG00000110987 -601407 phenotype 4813 -601408 gene 7994 KAT6A ENSG00000083168 -601409 gene 10524 KAT5 ENSG00000172977 -601410 phenotype -601411 gene 6444 SGCD ENSG00000170624 -601412 phenotype -601413 gene 1734 DIO2 ENSG00000211448 -601414 phenotype -601415 gene 4605 MYBL2 ENSG00000101057 -601416 gene 7922 SLC39A7 ENSG00000112473 -601417 gene 7923 HSD17B8 ENSG00000204228 -601418 gene 6238 RRBP1 ENSG00000125844 -601419 phenotype -601420 predominantly phenotypes -601421 gene 3735 KARS1 ENSG00000065427 -601422 gene 7798 LUZP1 ENSG00000169641 -601423 gene 6996 TDG ENSG00000139372 -601424 gene 5019 OXCT1 ENSG00000083720 -601425 gene 6917 TCEA1 ENSG00000187735 -601426 gene 7182 NR2C2 ENSG00000177463 -601427 predominantly phenotypes -601428 gene 100151683 RNU4ATAC ENSG00000264229 -601429 gene 100151684 RNU6ATAC ENSG00000221676 -601430 gene 5976 UPF1 ENSG00000005007 -601431 gene 7154 TRA-TGC7-1 -601432 gene 7232 TRR-TCG4-1 -601433 moved/removed -601434 gene 6500 SKP1 ENSG00000113558 -601435 gene 728622 SKP1P2 -601436 gene 6502 SKP2 ENSG00000145604 -601437 gene 2217 FCGRT ENSG00000104870 -601438 predominantly phenotypes -601439 gene 10060 ABCC9 ENSG00000069431 -601440 gene 8526 DGKE ENSG00000153933 -601441 gene 8525 DGKZ ENSG00000149091 -601442 gene 1072 CFL1 ENSG00000172757 -601443 gene 1073 CFL2 ENSG00000165410 -601444 gene 2647 BLOC1S1 ENSG00000135441 -601445 gene 4715 NDUFB9 ENSG00000147684 -601446 moved/removed -601447 gene 8078 USP5 ENSG00000111667 -601448 gene 4863 NPAT ENSG00000149308 -601449 predominantly phenotypes -601450 predominantly phenotypes -601451 moved/removed -601452 phenotype -601453 predominantly phenotypes -601454 phenotype 7889 -601455 phenotype -601456 gene 22915 MMRN1 ENSG00000138722 -601457 phenotype -601458 phenotype 3378 -601459 gene 5368 PNOC ENSG00000168081 -601460 gene 6578 SLCO2A1 ENSG00000174640 -601461 gene 474 ATOH1 ENSG00000172238 -601462 phenotype -601463 gene 3036 HAS1 ENSG00000105509 -601464 gene 3899 AFF3 ENSG00000144218 -601465 gene 1716 DGUOK ENSG00000114956 -601466 predominantly phenotypes -601467 gene 4085 MAD2L1 ENSG00000164109 -601468 gene 4144 MAT2A ENSG00000168906 -601469 gene 5746 PTH2R ENSG00000144407 -601470 gene 1524 CX3CR1 ENSG00000168329 -601471 phenotype 7880 -601472 phenotype -601473 gene 7627 ZNF75A ENSG00000162086 -601474 moved/removed -601475 gene 5822 PWP2 ENSG00000241945 -601476 gene 7805 LAPTM5 ENSG00000162511 -601477 predominantly phenotypes -601478 gene 4640 MYO1A ENSG00000166866 -601479 gene 4643 MYO1E ENSG00000157483 -601480 gene 4542 MYO1F ENSG00000142347 -601481 gene 4651 MYO10 ENSG00000145555 -601482 gene 1810 DR1 ENSG00000117505 -601483 gene 5178 PEG3 ENSG00000198300 -601484 gene 6414 SELENOP ENSG00000250722 -601485 gene 112755 STX1B ENSG00000099365 -601486 gene 1618 DAZL ENSG00000092345 -601487 gene 5468 PPARG ENSG00000132170 -601488 gene 4689 NCF4 ENSG00000100365 -601489 gene 3483 IGFALS ENSG00000099769 -601490 gene 4778 NFE2 ENSG00000123405 -601491 gene 3653 IPW -601492 phenotype -601493 phenotype -601494 phenotype -601495 phenotype -601496 gene 2674 GFRA1 ENSG00000151892 -601497 gene 573 BAG1 ENSG00000107262 -601498 gene 5190 PEX6 ENSG00000124587 -601499 phenotype 6012 -601500 gene 6608 SMO ENSG00000128602 -601501 gene 55737 VPS35 ENSG00000069329 -601502 gene 2210 FCGR1BP ENSG00000198019 -601503 gene 100132417 FCGR1CP ENSG00000265531 -601504 gene 6397 SEC14L1 ENSG00000129657 -601505 gene 7705 ZNF146 ENSG00000167635 -601506 gene 4735 SEPTIN2 ENSG00000168385 -601507 gene 1176 AP3S1 ENSG00000177879 -601508 moved/removed -601509 gene 8836 GGH ENSG00000137563 -601510 gene 22937 SCAP ENSG00000114650 -601511 gene 6776 STAT5A ENSG00000126561 -601512 gene 6778 STAT6 ENSG00000166888 -601513 gene 2257 FGF12 ENSG00000114279 -601514 gene 2256 FGF11 ENSG00000161958 -601515 gene 2259 FGF14 ENSG00000102466 -601516 gene 7536 SF1 ENSG00000168066 -601517 gene 6311 ATXN2 ENSG00000204842 -601518 phenotype -601519 gene 521 ATP5ME ENSG00000169020 -601520 gene 6361 CCL17 ENSG00000102970 -601521 gene 11082 ESM1 ENSG00000164283 -601522 gene 2886 GRB7 ENSG00000141738 -601523 gene 2887 GRB10 ENSG00000106070 -601524 gene 2888 GRB14 ENSG00000115290 -601525 gene 1116 CHI3L1 ENSG00000133048 -601526 gene 1117 CHI3L2 ENSG00000064886 -601527 gene 8092 ALX1 ENSG00000180318 -601528 gene 7424 VEGFC ENSG00000150630 -601529 gene 7181 NR2C1 ENSG00000120798 -601530 gene 8878 SQSTM1 ENSG00000161011 -601531 gene 1241 LTB4R ENSG00000213903 -601532 gene 839 CASP6 ENSG00000138794 -601533 gene 2515 ADAM2 ENSG00000104755 -601534 gene 3760 KCNJ3 ENSG00000162989 -601535 gene 1946 EFNA5 ENSG00000184349 -601536 phenotype -601537 phenotype -601538 gene 5626 PROP1 ENSG00000175325 -601539 phenotype -601540 gene 6046 BRD2 ENSG00000204256 -601541 gene 8019 BRD3 ENSG00000169925 -601542 gene 5308 PITX2 ENSG00000164093 -601543 phenotype -601544 phenotype -601545 gene 5048 PAFAH1B1 ENSG00000007168 -601546 gene 5629 PROX1 ENSG00000117707 -601547 phenotype -601548 gene 2202 EFEMP1 ENSG00000115380 -601549 phenotype -601550 phenotype -601551 phenotype -601552 phenotype -601553 phenotype -601554 gene 6993 DYNLT1 ENSG00000146425 -601555 gene 8153 RND2 ENSG00000108830 -601556 gene 6310 ATXN1 ENSG00000124788 -601557 gene 32 ACACB ENSG00000076555 -601558 gene 11030 RBPMS ENSG00000157110 -601559 phenotype -601560 predominantly phenotypes -601561 predominantly phenotypes -601562 gene 8655 DYNLL1 ENSG00000088986 -601563 moved/removed -601564 gene 5645 PRSS2 ENSG00000275896 -601565 gene 3394 IRF8 ENSG00000140968 -601566 gene 3621 ING1 ENSG00000153487 -601567 gene 3998 LMAN1 ENSG00000074695 -601568 gene 120 ADD3 ENSG00000148700 -601569 gene 7326 UBE2G1 ENSG00000132388 -601570 gene 7476 WNT7A ENSG00000154764 -601571 gene 830 CAPZA2 ENSG00000198898 -601572 gene 832 CAPZB ENSG00000077549 -601573 gene 2146 EZH2 ENSG00000106462 -601574 gene 8148 TAF15 ENSG00000270647 -601575 gene 2355 FOSL2 ENSG00000075426 -601576 gene 5802 PTPRS ENSG00000105426 -601577 gene 5790 PTPRCAP ENSG00000213402 -601578 gene 900 CCNG1 ENSG00000113328 -601579 gene 4946 OAZ1 ENSG00000104904 -601580 gene 829 CAPZA1 ENSG00000116489 -601581 gene 4897 NRCAM ENSG00000091129 -601582 gene 3635 INPP5D ENSG00000168918 -601583 phenotype -601584 gene 8073 PTP4A2 ENSG00000184007 -601585 gene 7803 PTP4A1 ENSG00000112245 -601586 gene 5734 PTGER4 ENSG00000171522 -601587 moved/removed -601588 moved/removed -601589 gene 5922 RASA2 ENSG00000155903 -601590 gene 2125 EVPL ENSG00000167880 -601591 gene 5593 PRKG2 ENSG00000138669 -601592 gene 5913 RAPSN ENSG00000165917 -601593 gene 580 BARD1 ENSG00000138376 -601594 gene 3720 JARID2 ENSG00000008083 -601595 gene 4086 SMAD1 ENSG00000170365 -601596 phenotype -601597 gene 7832 BTG2 ENSG00000159388 -601598 gene 5789 PTPRD ENSG00000153707 -601599 gene 8082 SSPN ENSG00000123096 -601600 gene 2119 ETV5 ENSG00000244405 -601601 gene 7021 TFAP2B ENSG00000008196 -601602 gene 7022 TFAP2C ENSG00000087510 -601603 gene 3937 LCP2 ENSG00000043462 -601604 gene 3594 IL12RB1 ENSG00000096996 -601605 moved/removed -601606 phenotype -601607 gene 6598 SMARCB1 ENSG00000099956 -601608 predominantly phenotypes -601609 gene 3033 HADH ENSG00000138796 -601610 gene 696 BTN1A1 ENSG00000124557 -601611 gene 8170 SLC14A2 ENSG00000132874 -601612 phenotype -601613 gene 643 CXCR5 ENSG00000160683 -601614 gene 9423 NTN1 ENSG00000065320 -601615 gene 21 ABCA3 ENSG00000167972 -601616 phenotype -601617 gene 5959 RDH5 ENSG00000135437 -601618 gene 54345 SOX18 ENSG00000203883 -601619 gene 5900 RALGDS ENSG00000160271 -601620 gene 6910 TBX5 ENSG00000089225 -601621 gene 6926 TBX3 ENSG00000135111 -601622 gene 7291 TWIST1 ENSG00000122691 -601623 gene 7337 UBE3A ENSG00000114062 -601624 gene 2220 FCN2 ENSG00000160339 -601625 gene 417 ART1 ENSG00000129744 -601626 phenotype -601627 gene 6607 SMN2 ENSG00000205571 -601628 moved/removed -601629 gene 5121 PCP4 ENSG00000183036 -601630 moved/removed -601631 phenotype -601632 gene 5457 POU4F1 ENSG00000152192 -601633 gene 4905 NSF ENSG00000073969 -601634 phenotype -601635 moved/removed -601636 gene 3037 HAS2 ENSG00000170961 -601637 gene 1595 CYP51A1 ENSG00000001630 -601638 gene 23647 ARFIP2 ENSG00000132254 -601639 gene 5566 PRKACA ENSG00000072062 -601640 moved/removed -601641 gene 8309 ACOX2 ENSG00000168306 -601642 gene 3595 IL12RB2 ENSG00000081985 -601643 gene 5525 PPP2R5A ENSG00000066027 -601644 gene 5526 PPP2R5B ENSG00000068971 -601645 gene 5527 PPP2R5C ENSG00000078304 -601646 gene 5528 PPP2R5D ENSG00000112640 -601647 gene 5529 PPP2R5E ENSG00000154001 -601648 gene 5710 PSMD4 ENSG00000159352 -601649 moved/removed -601650 phenotype -601651 gene 4676 NAP1L4 ENSG00000205531 -601652 gene 4653 MYOC ENSG00000034971 -601653 gene 2138 EYA1 ENSG00000104313 -601654 gene 2139 EYA2 ENSG00000064655 -601655 gene 2140 EYA3 ENSG00000158161 -601656 gene 2627 GATA6 ENSG00000141448 -601657 gene 1833 EPYC ENSG00000083782 -601658 gene 729330 OC90 ENSG00000253117 -601659 gene 8209 GATD3 ENSG00000160221 -601660 moved/removed -601661 gene 7329 UBE2I ENSG00000103275 -601662 gene 214 ALCAM ENSG00000170017 -601663 gene 2100 ESR2 ENSG00000140009 -601664 gene 23020 SNRNP200 ENSG00000144028 -601665 phenotype -601666 phenotype 3414 -601667 gene 284 ANGPT1 ENSG00000154188 -601668 predominantly phenotypes -601669 moved/removed -601670 gene 8193 DPF1 ENSG00000011332 -601671 gene 5977 DPF2 ENSG00000133884 -601672 gene 8110 DPF3 ENSG00000205683 -601673 gene 1993 ELAVL2 ENSG00000107105 -601674 gene 2145 EZH1 ENSG00000108799 -601675 phenotype -601676 phenotype 7808 -601677 gene 4698 NDUFA5 ENSG00000128609 -601678 phenotype -601679 gene 2969 GTF2I ENSG00000263001 -601680 phenotype -601681 gene 5705 PSMC5 ENSG00000087191 -601682 phenotype 2723 -601683 gene 10229 COQ7 ENSG00000167186 -601684 gene 6195 RPS6KA1 ENSG00000117676 -601685 gene 6196 RPS6KA2 ENSG00000071242 -601686 gene 7011 TEP1 ENSG00000129566 -601687 gene 3859 KRT12 ENSG00000187242 -601688 gene 3248 HPGD ENSG00000164120 -601689 gene 6875 TAF4B ENSG00000141384 -601690 gene 7941 PLA2G7 ENSG00000146070 -601691 gene 24 ABCA4 ENSG00000198691 -601692 gene 7045 TGFBI ENSG00000120708 -601693 gene 7351 UCP2 ENSG00000175567 -601694 phenotype 7839 -601695 gene 1448 CSN3 ENSG00000171209 -601696 predominantly phenotypes -601697 gene 5271 SERPINB8 ENSG00000166401 -601698 gene 5799 PTPRN2 ENSG00000155093 -601699 gene 5740 PTGIS ENSG00000124212 -601700 phenotype -601701 predominantly phenotypes -601702 gene 6093 ROCK1 ENSG00000067900 -601703 gene 7408 VASP ENSG00000125753 -601704 gene 4283 CXCL9 ENSG00000138755 -601705 phenotype -601706 predominantly phenotypes -601707 phenotype -601708 predominantly phenotypes -601709 phenotype -601710 gene 1983 EIF5 ENSG00000100664 -601711 gene 7185 TRAF1 ENSG00000056558 -601712 gene 329 BIRC2 ENSG00000110330 -601713 gene 2764 GMFB ENSG00000197045 -601714 gene 7004 TEAD4 ENSG00000197905 -601715 moved/removed -601716 gene 6780 STAU1 ENSG00000124214 -601717 gene 6813 STXBP2 ENSG00000076944 -601718 phenotype -601719 gene 9496 TBX4 ENSG00000121075 -601720 gene 22944 KIN ENSG00000151657 -601721 gene 330 BIRC3 ENSG00000023445 -601722 moved/removed -601723 gene 7855 FZD5 ENSG00000163251 -601724 gene 4760 NEUROD1 ENSG00000162992 -601725 gene 4761 NEUROD2 ENSG00000171532 -601726 gene 4762 NEUROG1 ENSG00000181965 -601727 moved/removed -601728 gene 5728 PTEN ENSG00000171862 -601729 gene 8463 TEAD2 ENSG00000074219 -601730 gene 5279 PIGC ENSG00000135845 -601731 gene 471 ATIC ENSG00000138363 -601732 gene 6599 SMARCC1 ENSG00000173473 -601733 gene 4258 MGST2 ENSG00000085871 -601734 gene 6601 SMARCC2 ENSG00000139613 -601735 gene 6602 SMARCD1 ENSG00000066117 -601736 gene 6603 SMARCD2 ENSG00000108604 -601737 gene 6604 SMARCD3 ENSG00000082014 -601738 gene 2134 EXTL1 ENSG00000158008 -601739 gene 4211 MEIS1 ENSG00000143995 -601740 gene 4212 MEIS2 ENSG00000134138 -601741 gene 8065 CUL5 ENSG00000166266 -601742 gene 10155 TRIM28 ENSG00000130726 -601743 gene 9180 OSMR ENSG00000145623 -601744 phenotype -601745 gene 3775 KCNK1 ENSG00000135750 -601746 gene 10525 HYOU1 ENSG00000149428 -601747 gene 373 TRIM23 ENSG00000113595 -601748 gene 2966 GTF2H2 ENSG00000145736 -601749 gene 11146 GLMN ENSG00000174842 -601750 gene 2967 GTF2H3 ENSG00000111358 -601751 gene 2847 MCHR1 ENSG00000128285 -601752 gene 953 ENTPD1 ENSG00000138185 -601753 gene 5481 PPID ENSG00000171497 -601754 gene 7353 UFD1 ENSG00000070010 -601755 gene 8220 ESS2 ENSG00000100056 -601756 gene 2591 GALNT3 ENSG00000115339 -601757 gene 5191 PEX7 ENSG00000112357 -601758 gene 5193 PEX12 ENSG00000108733 -601759 predominantly phenotypes -601760 gene 2968 GTF2H4 ENSG00000213780 -601761 gene 840 CASP7 ENSG00000165806 -601762 gene 843 CASP10 ENSG00000003400 -601763 gene 841 CASP8 ENSG00000064012 -601764 phenotype 8181 -601765 moved/removed -601766 gene 8326 FZD9 ENSG00000188763 -601767 gene 3092 HIP1 ENSG00000127946 -601768 gene 6455 SH3GL1 ENSG00000141985 -601769 gene 7421 VDR ENSG00000111424 -601770 gene 4888 NPY6R ENSG00000226306 -601771 gene 1545 CYP1B1 ENSG00000138061 -601772 gene 3014 H2AX ENSG00000188486 -601773 gene 5798 PTPRN ENSG00000054356 -601774 gene 4249 MGAT5 ENSG00000152127 -601775 phenotype -601776 phenotype -601777 phenotype -601778 gene 5442 POLRMT ENSG00000099821 -601779 moved/removed -601780 phenotype -601781 moved/removed -601782 gene 7016 TESK1 ENSG00000107140 -601783 gene 4135 MAP6 ENSG00000171533 -601784 gene 40 ASIC2 ENSG00000108684 -601785 gene 5373 PMM2 ENSG00000140650 -601786 gene 5372 PMM1 ENSG00000100417 -601787 gene 6877 TAF5 ENSG00000148835 -601788 gene 2660 MSTN ENSG00000138379 -601789 gene 5194 PEX13 ENSG00000162928 -601790 gene 5540 NPY4R ENSG00000204174 -601791 gene 5195 PEX14 ENSG00000142655 -601792 gene 5504 PPP1R2 ENSG00000184203 -601793 moved/removed -601794 phenotype -601795 gene 5595 MAPK3 ENSG00000102882 -601796 gene 6874 TAF4 ENSG00000130699 -601797 gene 202 CRYBG1 ENSG00000112297 -601798 gene 10007 GNPDA1 ENSG00000113552 -601799 gene 5272 SERPINB9 ENSG00000170542 -601800 phenotype -601801 gene 6668 SP2 ENSG00000167182 -601802 gene 8820 HESX1 ENSG00000163666 -601803 phenotype -601804 gene 6670 SP3 ENSG00000172845 -601805 gene 2852 GPER1 ENSG00000164850 -601806 gene 4175 MCM6 ENSG00000076003 -601807 gene 4327 MMP19 ENSG00000123342 -601808 phenotype -601809 predominantly phenotypes -601810 gene 1763 DNA2 ENSG00000138346 -601811 predominantly phenotypes -601812 phenotype -601813 phenotype -601814 gene 486 FXYD2 ENSG00000137731 -601815 phenotype -601816 phenotype -601817 gene 4832 NME3 ENSG00000103024 -601818 gene 4833 NME4 ENSG00000103202 -601819 gene 2186 BPTF ENSG00000171634 -601820 phenotype -601821 gene 6084 RNY1 ENSG00000201098 -601822 gene 6085 RNY3 ENSG00000202354 -601823 gene 6086 RNY4 ENSG00000252316 -601824 gene 6090 RNY5 -601825 gene 374291 NDUFS7 ENSG00000115286 -601826 gene 8527 DGKD ENSG00000077044 -601827 moved/removed -601828 gene 4929 NR4A2 ENSG00000153234 -601829 predominantly phenotypes -601830 moved/removed -601831 gene 8349 H2BC21 ENSG00000184678 -601832 gene 6159 RPL29 ENSG00000162244 -601833 gene 199 AIF1 ENSG00000204472 -601834 gene 1237 CCR8 ENSG00000179934 -601835 gene 1235 CCR6 ENSG00000112486 -601836 gene 22920 KIFAP3 ENSG00000075945 -601837 gene 3981 LIG4 ENSG00000174405 -601838 gene 3705 ITPK1 ENSG00000100605 -601839 gene 2049 EPHB3 ENSG00000182580 -601840 moved/removed -601841 gene 5104 SERPINA5 ENSG00000188488 -601842 moved/removed -601843 gene 6528 SLC5A5 ENSG00000105641 -601844 gene 65266 WNK4 ENSG00000126562 -601845 gene 2928 GSC2 ENSG00000063515 -601846 phenotype 4195 -601847 phenotype -601848 gene 9804 TOMM20 ENSG00000173726 -601849 moved/removed -601850 moved/removed -601851 gene 9575 CLOCK ENSG00000134852 -601852 gene 7087 ICAM5 ENSG00000105376 -601853 phenotype -601854 gene 1608 DGKG ENSG00000058866 -601855 gene 9138 ARHGEF1 ENSG00000076928 -601856 gene 10520 ZNF211 ENSG00000121417 -601857 moved/removed -601858 gene 1047 CLGN ENSG00000153132 -601859 phenotype -601860 gene 3295 HSD17B4 ENSG00000133835 -601861 gene 5994 RFXAP ENSG00000133111 -601862 moved/removed -601863 gene 5993 RFX5 ENSG00000143390 -601864 moved/removed -601865 gene 5352 PLOD2 ENSG00000152952 -601866 gene 10507 SEMA4D ENSG00000187764 -601867 gene 483 ATP1B3 ENSG00000069849 -601868 phenotype -601869 phenotype -601870 gene 10988 METAP2 ENSG00000111142 -601871 gene 1466 CSRP2 ENSG00000175183 -601872 gene 6542 SLC7A2 ENSG00000003989 -601873 gene 2583 B4GALNT1 ENSG00000135454 -601874 gene 22936 ELL2 ENSG00000118985 -601875 moved/removed -601876 predominantly phenotypes -601877 gene 7044 LEFTY2 ENSG00000143768 -601878 gene 7071 KLF10 ENSG00000155090 -601879 gene 3965 LGALS9 ENSG00000168961 -601880 gene 6376 CX3CL1 ENSG00000006210 -601881 gene 30062 RAX ENSG00000134438 -601882 gene 1676 DFFA ENSG00000160049 -601883 gene 1677 DFFB ENSG00000169598 -601884 phenotype -601885 phenotype -601886 gene 430 ASCL2 ENSG00000183734 -601887 phenotype -601888 phenotype 4266 -601889 gene 606 NBEAP1 -601890 gene 5754 PTK7 ENSG00000112655 -601891 gene 1474 CST6 ENSG00000175315 -601892 gene 3839 KPNA3 ENSG00000102753 -601893 gene 7204 TRIO ENSG00000038382 -601894 phenotype -601895 gene 7186 TRAF2 ENSG00000127191 -601896 gene 7187 TRAF3 ENSG00000131323 -601897 gene 7707 ZNF148 ENSG00000163848 -601898 gene 2693 GHSR ENSG00000121853 -601899 gene 8027 STAM ENSG00000136738 -601900 gene 3662 IRF4 ENSG00000137265 -601901 gene 6543 SLC8A2 ENSG00000118160 -601902 gene 4998 ORC1 ENSG00000085840 -601903 gene 7367 UGT2B17 ENSG00000197888 -601904 moved/removed -601905 gene 5875 RABGGTA ENSG00000100949 -601906 gene 7480 WNT10B ENSG00000169884 -601907 gene 4756 NEO1 ENSG00000067141 -601908 gene 2843 GPR20 ENSG00000204882 -601909 gene 2844 GPR21 ENSG00000188394 -601910 gene 2845 GPR22 ENSG00000172209 -601911 gene 1748 DLX4 ENSG00000108813 -601912 gene 7341 SUMO1 ENSG00000116030 -601913 gene 439 GET3 ENSG00000198356 -601914 gene 5549 PRELP ENSG00000188783 -601915 gene 7079 TIMP4 ENSG00000157150 -601916 gene 7873 MANF ENSG00000145050 -601917 gene 222 ALDH3B2 ENSG00000132746 -601918 gene 2661 GDF9 ENSG00000164404 -601919 gene 2151 F2RL2 ENSG00000164220 -601920 gene 182 JAG1 ENSG00000101384 -601921 moved/removed -601922 gene 285 ANGPT2 ENSG00000091879 -601923 moved/removed -601924 gene 1314 COPA ENSG00000122218 -601925 gene 396 ARHGDIA ENSG00000141522 -601926 gene 7069 THRSP ENSG00000151365 -601927 phenotype -601928 gene 3892 KRT86 ENSG00000170442 -601929 gene 489 ATP2A3 ENSG00000074370 -601930 gene 646 BNC1 ENSG00000169594 -601931 gene 599 BCL2L2 ENSG00000129473 -601932 gene 100129528 MUC8 -601933 gene 1407 CRY1 ENSG00000008405 -601934 gene 2873 GPS1 ENSG00000169727 -601935 gene 2874 GPS2 ENSG00000132522 -601936 gene 5074 PAWR ENSG00000177425 -601937 gene 8202 NCOA3 ENSG00000124151 -601938 moved/removed -601939 gene 6732 SRPK1 ENSG00000096063 -601940 gene 6429 SRSF4 ENSG00000116350 -601941 phenotype 3405 -601942 phenotype -601943 gene 8683 SRSF9 ENSG00000111786 -601944 gene 6431 SRSF6 ENSG00000124193 -601945 gene 6433 SFSWAP ENSG00000061936 -601946 moved/removed -601947 gene 6666 SOX12 ENSG00000177732 -601948 moved/removed -601949 gene 785 CACNB4 ENSG00000182389 -601950 gene 161882 ZFPM1 ENSG00000179588 -601951 gene 1195 CLK1 ENSG00000013441 -601952 phenotype -601953 gene 902 CCNH ENSG00000134480 -601954 phenotype -601955 gene 1022 CDK7 ENSG00000134058 -601956 gene 2675 GFRA2 ENSG00000168546 -601957 predominantly phenotypes -601958 gene 784 CACNB3 ENSG00000167535 -601959 gene 6787 NEK4 ENSG00000114904 -601960 gene 6364 CCL20 ENSG00000115009 -601961 gene 3275 PRMT2 ENSG00000160310 -601962 gene 6892 TAPBP ENSG00000231925 -601963 gene 7265 TTC1 ENSG00000113312 -601964 gene 7266 DNAJC7 ENSG00000168259 -601965 gene 1903 S1PR3 ENSG00000213694 -601966 gene 6248 RSC1A1 ENSG00000215695 -601967 gene 7477 WNT7B ENSG00000188064 -601968 gene 7482 WNT2B ENSG00000134245 -601969 gene 1755 DMBT1 ENSG00000187908 -601970 gene 7434 VIPR2 ENSG00000106018 -601971 moved/removed -601972 gene 6096 RORB ENSG00000198963 -601973 gene 5919 RARRES2 ENSG00000106538 -601974 gene 1901 S1PR1 ENSG00000170989 -601975 gene 5317 PKP1 ENSG00000081277 -601976 predominantly phenotypes -601977 phenotype -601978 gene 10280 SIGMAR1 ENSG00000147955 -601979 predominantly phenotypes -601980 gene 8513 LIPF ENSG00000182333 -601981 gene 6039 RNASE6 ENSG00000169413 -601982 gene 4968 OGG1 ENSG00000114026 -601983 gene 11184 MAP4K1 ENSG00000104814 -601984 gene 8031 NCOA4 ENSG00000266412 -601985 gene 8030 CCDC6 ENSG00000108091 -601986 moved/removed -601987 gene 1375 CPT1B ENSG00000205560 -601988 gene 3985 LIMK2 ENSG00000182541 -601989 gene 6284 S100A13 ENSG00000189171 -601990 gene 7161 TP73 ENSG00000078900 -601991 gene 4858 NOVA2 ENSG00000104967 -601992 phenotype 2420 -601993 gene 10499 NCOA2 ENSG00000140396 -601994 gene -601995 gene 7143 TNR ENSG00000116147 -601996 moved/removed -601997 gene 637 BID ENSG00000015475 -601998 gene 2101 ESRRA ENSG00000173153 -601999 gene 3975 LHX1 ENSG00000273706 -602000 gene 84172 POLR1B ENSG00000125630 -602001 gene 4889 NPY5R ENSG00000164129 -602002 gene 7791 ZYX ENSG00000159840 -602003 gene 4033 IRAG2 ENSG00000118308 -602004 gene 5753 PTK6 ENSG00000101213 -602005 gene 6653 SORL1 ENSG00000137642 -602006 gene 9261 MAPKAPK2 ENSG00000162889 -602007 gene 1399 CRKL ENSG00000099942 -602008 gene 3843 IPO5 ENSG00000065150 -602009 gene 1339 COX6A2 ENSG00000156885 -602010 gene 9295 SRSF11 ENSG00000116754 -602011 predominantly phenotypes 8466 -602012 gene 954 ENTPD2 ENSG00000054179 -602013 gene 5436 POLR2G ENSG00000168002 -602014 phenotype -602015 gene 4957 ODF2 ENSG00000136811 -602016 gene 10365 KLF2 ENSG00000127528 -602017 gene 5689 PSMB1 ENSG00000008018 -602018 gene 4902 NRTN ENSG00000171119 -602019 gene 6713 SQLE ENSG00000104549 -602020 gene 4097 MAFG ENSG00000197063 -602021 gene 4659 PPP1R12A ENSG00000058272 -602022 gene 7851 MALL ENSG00000144063 -602023 gene 1188 CLCNKB ENSG00000184908 -602024 gene 1187 CLCNKA ENSG00000186510 -602025 phenotype -602026 gene 5264 PHYH ENSG00000107537 -602027 gene 7014 TERF2 ENSG00000132604 -602028 moved/removed -602029 moved/removed -602030 gene 2529 FUT7 ENSG00000180549 -602031 gene 5229 PGGT1B ENSG00000164219 -602032 phenotype -602033 gene 2009 EML1 ENSG00000066629 -602034 gene 1395 CRHR2 ENSG00000106113 -602035 gene 5531 PPP4C ENSG00000149923 -602036 moved/removed -602037 gene 399 RHOH ENSG00000168421 -602038 gene 1850 DUSP8 ENSG00000184545 -602039 gene 8661 EIF3A ENSG00000107581 -602040 gene 4685 NCAM2 ENSG00000154654 -602041 gene 4824 NKX3-1 ENSG00000167034 -602042 gene 2841 GPR18 ENSG00000125245 -602043 gene 2853 GPR31 ENSG00000120436 -602044 gene 7352 UCP3 ENSG00000175564 -602045 gene 6015 RING1 ENSG00000204227 -602046 gene 2923 PDIA3 ENSG00000167004 -602047 gene 5140 PDE3B ENSG00000152270 -602048 gene 5879 RAC1 ENSG00000136238 -602049 gene 5880 RAC2 ENSG00000128340 -602050 gene 5881 RAC3 ENSG00000169750 -602051 gene 5301 PIN1P1 ENSG00000229359 -602052 gene 2580 GAK ENSG00000178950 -602053 gene 1316 KLF6 ENSG00000067082 -602054 gene 6899 TBX1 ENSG00000184058 -602055 gene 3638 INSIG1 ENSG00000186480 -602056 gene 1672 DEFB1 ENSG00000164825 -602057 moved/removed -602058 gene 5273 SERPINB10 ENSG00000242550 -602059 gene 3671 ISLR ENSG00000129009 -602060 gene 7113 TMPRSS2 ENSG00000184012 -602061 gene 2069 EREG ENSG00000124882 -602062 gene 4814 NINJ1 ENSG00000131669 -602063 gene 6888 TALDO1 ENSG00000177156 -602064 gene 3612 IMPA1 ENSG00000133731 -602065 gene 105 ADARB2 ENSG00000185736 -602066 phenotype -602067 moved/removed -602068 predominantly phenotypes -602069 gene 8829 NRP1 ENSG00000099250 -602070 gene 8828 NRP2 ENSG00000118257 -602071 phenotype -602072 gene 1337 COX6A1 ENSG00000111775 -602073 moved/removed -602074 gene 7818 DAP3 ENSG00000132676 -602075 gene 6304 SATB1 ENSG00000182568 -602076 gene 7442 TRPV1 ENSG00000196689 -602077 moved/removed -602078 phenotype -602079 phenotype -602080 phenotype -602081 phenotype -602082 phenotype -602083 phenotype -602084 moved/removed -602085 phenotype 8103 -602086 phenotype 424 -602087 phenotype 425 -602088 phenotype -602089 phenotype -602090 gene 4054 LTBP3 ENSG00000168056 -602091 gene 4053 LTBP2 ENSG00000119681 -602092 phenotype -602093 phenotype -602094 moved/removed -602095 gene 7782 SLC30A4 ENSG00000104154 -602096 phenotype 8081 -602097 phenotype 7396 -602098 gene 5347 PLK1 ENSG00000166851 -602099 phenotype -602100 gene 5316 PKNOX1 ENSG00000160199 -602101 gene 7122 CLDN5 ENSG00000184113 -602102 gene 6829 SUPT5H ENSG00000196235 -602103 gene 7109 TRAPPC10 ENSG00000160218 -602104 gene 6452 SH3BP2 ENSG00000087266 -602105 gene 4438 MSH4 ENSG00000057468 -602106 gene 3772 KCNJ15 ENSG00000157551 -602107 predominantly phenotypes -602108 gene 4147 MATN2 ENSG00000132561 -602109 gene 4148 MATN3 ENSG00000132031 -602110 gene 3177 SLC29A2 ENSG00000174669 -602111 phenotype -602112 gene 758 MPPED1 ENSG00000186732 -602113 gene 8085 KMT2D ENSG00000167548 -602114 predominantly phenotypes -602115 gene 2255 FGF10 ENSG00000070193 -602116 gene 8089 YEATS4 ENSG00000127337 -602117 gene 4692 NDN ENSG00000182636 -602118 gene 1105 CHD1 ENSG00000153922 -602119 gene 1106 CHD2 ENSG00000173575 -602120 gene 1107 CHD3 ENSG00000170004 -602121 gene 1729 DIAPH1 ENSG00000131504 -602122 gene 6731 SRP72 ENSG00000174780 -602123 gene 818 CAMK2G ENSG00000148660 -602124 phenotype 1866 -602125 gene 1352 COX10 ENSG00000006695 -602126 gene 7541 ZBTB14 ENSG00000198081 -602127 gene 6525 SMTN ENSG00000183963 -602128 gene 10634 GAS2L1 ENSG00000185340 -602129 gene 4650 MYO9B ENSG00000099331 -602130 gene 7867 MAPKAPK3 ENSG00000114738 -602131 gene 7262 PHLDA2 ENSG00000181649 -602132 gene 4253 MIA2 ENSG00000150527 -602133 gene 5198 PFAS ENSG00000178921 -602134 phenotype 2112 -602135 gene 7802 DNALI1 ENSG00000163879 -602136 gene 5189 PEX1 ENSG00000127980 -602137 gene 4695 NDUFA2 ENSG00000131495 -602138 gene 4700 NDUFA6 ENSG00000184983 -602139 gene 4701 NDUFA7 ENSG00000267855 -602140 gene 4714 NDUFB8 ENSG00000166136 -602141 gene 4728 NDUFS8 ENSG00000110717 -602142 gene 5333 PLCD1 ENSG00000187091 -602143 gene 7159 TP53BP2 ENSG00000143514 -602144 gene 676 BRDT ENSG00000137948 -602145 gene 5036 PA2G4 ENSG00000170515 -602146 gene 89884 LHX4 ENSG00000121454 -602147 moved/removed -602148 gene 6656 SOX1 ENSG00000182968 -602149 gene 5307 PITX1 ENSG00000069011 -602150 gene 6591 SNAI2 ENSG00000019549 -602151 gene 1856 DVL2 ENSG00000004975 -602152 phenotype -602153 gene 3887 KRT81 ENSG00000205426 -602154 gene 7956 -602155 gene 7993 UBXN8 ENSG00000104691 -602156 moved/removed -602157 gene 4857 NOVA1 ENSG00000139910 -602158 gene 1207 CLNS1A ENSG00000074201 -602159 gene 7464 CORO2A ENSG00000106789 -602160 gene 7029 TFDP2 ENSG00000114126 -602161 gene 5721 PSME2 ENSG00000100911 -602162 gene 6847 SYCP1 ENSG00000198765 -602163 gene 7325 UBE2E2 ENSG00000182247 -602164 gene 3360 HTR4 ENSG00000164270 -602165 gene 5987 TRIM27 ENSG00000204713 -602166 gene 8120 AP3B2 ENSG00000103723 -602167 gene 2103 ESRRB ENSG00000119715 -602168 gene 7443 VRK1 ENSG00000100749 -602169 gene 7444 VRK2 ENSG00000028116 -602170 gene 4615 MYD88 ENSG00000172936 -602171 gene 10223 GPA33 ENSG00000143167 -602172 gene 1582 CYP8B1 ENSG00000180432 -602173 gene 7095 SEC62 ENSG00000008952 -602174 gene 2848 GPR25 ENSG00000170128 -602175 gene 5690 PSMB2 ENSG00000126067 -602176 gene 5691 PSMB3 ENSG00000277791 -602177 gene 5692 PSMB4 ENSG00000159377 -602178 gene 1101 CHAD ENSG00000136457 -602179 gene 3316 HSPB2 ENSG00000170276 -602180 gene 6494 SIPA1 ENSG00000213445 -602181 gene 27044 SND1 ENSG00000197157 -602182 gene 5169 ENPP3 ENSG00000154269 -602183 gene 579 NKX3-2 ENSG00000109705 -602184 gene 4731 NDUFV3 ENSG00000160194 -602185 moved/removed -602186 gene 7425 VGF ENSG00000128564 -602187 gene 7748 ZNF195 ENSG00000005801 -602188 gene 2043 EPHA4 ENSG00000116106 -602189 gene 5998 RGS3 ENSG00000138835 -602190 gene 2045 EPHA7 ENSG00000135333 -602191 gene 1999 ELF3 ENSG00000163435 -602192 gene 102 ADAM10 ENSG00000137845 -602193 gene 2030 SLC29A1 ENSG00000112759 -602194 gene 5654 HTRA1 ENSG00000166033 -602195 gene 3315 HSPB1 ENSG00000106211 -602196 phenotype -602197 predominantly phenotypes 8163 -602198 gene 8099 CDK2AP1 ENSG00000111328 -602199 phenotype -602200 phenotype -602201 gene 1893 ECM1 ENSG00000143369 -602202 gene 1650 DDOST ENSG00000244038 -602203 gene 6588 SLN ENSG00000170290 -602204 gene 636 BICD1 ENSG00000151746 -602205 moved/removed -602206 gene 64284 RAB17 ENSG00000124839 -602207 gene 22931 RAB18 ENSG00000099246 -602208 gene 3766 KCNJ10 ENSG00000177807 -602209 gene 6239 RREB1 ENSG00000124782 -602210 gene 3646 EIF3E ENSG00000104408 -602211 gene 2306 FOXD2 ENSG00000186564 -602212 gene 6477 SIAH1 ENSG00000196470 -602213 gene 6478 SIAH2 ENSG00000181788 -602214 gene 1455 CSNK1G2 ENSG00000133275 -602215 gene 1673 DEFB4A ENSG00000171711 -602216 gene 6794 STK11 ENSG00000118046 -602217 gene 6386 SDCBP ENSG00000137575 -602218 gene 6299 SALL1 ENSG00000103449 -602219 gene 6297 SALL2 ENSG00000165821 -602220 gene 10633 RASL10A ENSG00000100276 -602221 gene 7750 ZMYM2 ENSG00000121741 -602222 moved/removed -602223 gene 1978 EIF4EBP1 ENSG00000187840 -602224 gene 1979 EIF4EBP2 ENSG00000148730 -602225 gene 1406 CRX ENSG00000105392 -602226 gene 4064 CD180 ENSG00000134061 -602227 gene 6363 CCL19 ENSG00000172724 -602228 gene 6934 TCF7L2 ENSG00000148737 -602229 gene 6663 SOX10 ENSG00000100146 -602230 gene 6450 SH3BGR ENSG00000185437 -602231 gene 6612 SUMO3 ENSG00000184900 -602232 gene 3786 KCNQ3 ENSG00000184156 -602233 gene 317 APAF1 ENSG00000120868 -602234 gene 842 CASP9 ENSG00000132906 -602235 gene 3785 KCNQ2 ENSG00000075043 -602236 moved/removed -602237 moved/removed -602238 gene 23404 EXOSC2 ENSG00000130713 -602239 gene 1592 CYP26A1 ENSG00000095596 -602240 gene 7745 ZKSCAN8 ENSG00000198315 -602241 gene 4285 MIPEP ENSG00000027001 -602242 gene 1175 AP2S1 ENSG00000042753 -602243 gene 977 CD151 ENSG00000177697 -602244 gene 1776 DNASE1L3 ENSG00000163687 -602245 gene 9567 GTPBP1 ENSG00000100226 -602246 gene 7746 ZSCAN9 ENSG00000137185 -602247 phenotype -602248 phenotype -602249 predominantly phenotypes -602250 gene 3604 TNFRSF9 ENSG00000049249 -602251 gene 26519 TIMM10 ENSG00000134809 -602252 predominantly phenotypes -602253 gene 9314 KLF4 ENSG00000136826 -602254 gene 402055 SRRD ENSG00000100104 -602255 gene 10494 STK25 ENSG00000115694 -602256 gene 5470 PPEF2 ENSG00000156194 -602257 gene 950 SCARB2 ENSG00000138760 -602258 moved/removed -602259 gene 7267 TTC3 ENSG00000182670 -602260 gene 5187 PER1 ENSG00000179094 -602261 gene 4324 MMP15 ENSG00000102996 -602262 gene 4325 MMP16 ENSG00000156103 -602263 moved/removed -602264 gene 6695 SPOCK1 ENSG00000152377 -602265 gene 4739 NEDD9 ENSG00000111859 -602266 moved/removed -602267 gene 101 ADAM8 ENSG00000151651 -602268 gene 314 AOC2 ENSG00000131480 -602269 gene 421 ARVCF ENSG00000099889 -602270 gene 475 ATOX1 ENSG00000177556 -602271 phenotype -602272 gene 6925 TCF4 ENSG00000196628 -602273 gene 2589 GALNT1 ENSG00000141429 -602274 gene 2590 GALNT2 ENSG00000143641 -602275 gene 2979 GUCA1B ENSG00000112599 -602276 gene 6871 TADA2A ENSG00000276234 -602277 gene 7738 ZNF184 ENSG00000096654 -602278 gene 4734 NEDD4 ENSG00000069869 -602279 gene 8106 PABPN1 ENSG00000100836 -602280 gene 7287 TULP1 ENSG00000112041 -602281 gene 4240 MFGE8 ENSG00000140545 -602282 gene 1902 LPAR1 ENSG00000198121 -602283 gene 6355 CCL8 ENSG00000108700 -602284 gene 656 BMP8B ENSG00000116985 -602285 gene 4326 MMP17 ENSG00000198598 -602286 gene 6309 SC5D ENSG00000109929 -602287 gene 10961 ERP29 ENSG00000089248 -602288 gene 6242 RTKN ENSG00000114993 -602289 gene 10589 DRAP1 ENSG00000175550 -602290 gene 22954 TRIM32 ENSG00000119401 -602291 gene 2302 FOXJ1 ENSG00000129654 -602292 gene 1892 ECHS1 ENSG00000127884 -602293 gene 10519 CIB1 ENSG00000185043 -602294 gene 3169 FOXA1 ENSG00000129514 -602295 gene 3171 FOXA3 ENSG00000170608 -602296 gene 9179 AP4M1 ENSG00000221838 -602297 gene 1949 EFNB3 ENSG00000108947 -602298 gene 7879 RAB7A ENSG00000075785 -602299 moved/removed -602300 gene 9514 GAL3ST1 ENSG00000128242 -602301 gene 2648 KAT2A ENSG00000108773 -602302 gene 55806 HR ENSG00000168453 -602303 gene 8850 KAT2B ENSG00000114166 -602304 gene 9975 NR1D2 ENSG00000174738 -602305 moved/removed -602306 gene 5863 RGL2 ENSG00000237441 -602307 gene 11059 WWP1 ENSG00000123124 -602308 gene 11060 WWP2 ENSG00000198373 -602309 gene 7288 TULP2 ENSG00000104804 -602310 gene 5937 RBMS1 ENSG00000153250 -602311 gene 181 AGRP ENSG00000159723 -602312 moved/removed -602313 gene 5017 OVOL1 ENSG00000172818 -602314 gene 3898 LAD1 ENSG00000159166 -602315 gene 5606 MAP2K3 ENSG00000034152 -602316 gene 9588 PRDX6 ENSG00000117592 -602317 gene 6769 STAC ENSG00000144681 -602318 gene 7978 MTERF1 ENSG00000127989 -602319 gene 4745 NELL1 ENSG00000165973 -602320 gene 4753 NELL2 ENSG00000184613 -602321 gene 373156 GSTK1 ENSG00000197448 -602322 gene 7012 TERC ENSG00000277925 -602323 gene 3768 KCNJ12 ENSG00000184185 -602324 gene 3189 HNRNPH3 ENSG00000096746 -602325 gene 1982 EIF4G2 ENSG00000110321 -602326 gene 6147 RPL23A ENSG00000198242 -602327 gene 5662 PSD ENSG00000059915 -602328 moved/removed -602329 gene 6400 SEL1L ENSG00000071537 -602330 gene 3983 ABLIM1 ENSG00000099204 -602331 gene 5001 ORC5 ENSG00000164815 -602332 gene 23397 NCAPH ENSG00000121152 -602333 gene 2012 EMP1 ENSG00000134531 -602334 gene 2013 EMP2 ENSG00000213853 -602335 gene 2014 EMP3 ENSG00000142227 -602336 gene 4919 ROR1 ENSG00000185483 -602337 gene 4920 ROR2 ENSG00000169071 -602338 gene 8899 PRPF4B ENSG00000112739 -602339 gene 6565 SLC15A2 ENSG00000163406 -602340 predominantly phenotypes -602341 gene 2305 FOXM1 ENSG00000111206 -602342 phenotype -602343 gene 7220 TRPC1 ENSG00000144935 -602344 gene 5051 PAFAH2 ENSG00000158006 -602345 gene 7222 TRPC3 ENSG00000138741 -602346 gene 8506 CNTNAP1 ENSG00000108797 -602347 phenotype -602348 gene 6619 SNAPC3 ENSG00000164975 -602349 gene 4917 NTN3 ENSG00000162068 -602350 gene 4900 NRGN ENSG00000154146 -602351 gene 1240 CMKLR1 ENSG00000174600 -602352 gene 2797 GNRH2 ENSG00000125787 -602353 gene 7041 TGFB1I1 ENSG00000140682 -602354 gene 27040 LAT ENSG00000213658 -602355 gene 7189 TRAF6 ENSG00000175104 -602356 gene 7188 TRAF5 ENSG00000082512 -602357 gene 7456 WIPF1 ENSG00000115935 -602358 gene 3060 HCRT ENSG00000161610 -602359 gene 5348 FXYD1 ENSG00000266964 -602360 gene 2628 GATM ENSG00000171766 -602361 phenotype -602362 gene 5905 RANGAP1 ENSG00000100401 -602363 moved/removed -602364 gene 1521 CTSW ENSG00000172543 -602365 gene 1075 CTSC ENSG00000109861 -602366 gene 3611 ILK ENSG00000166333 -602367 gene 4884 NPTX1 ENSG00000171246 -602368 gene 2895 GRID2 ENSG00000152208 -602369 gene 3491 CCN1 ENSG00000142871 -602370 gene 2765 GML ENSG00000104499 -602371 gene 2181 ACSL3 ENSG00000123983 -602372 gene 7455 ZAN ENSG00000146839 -602373 gene 1265 CNN2 ENSG00000064666 -602374 gene 1266 CNN3 ENSG00000117519 -602375 gene 6182 MRPL12 ENSG00000262814 -602376 gene 3455 IFNAR2 ENSG00000159110 -602377 gene 1759 DNM1 ENSG00000106976 -602378 gene 1785 DNM2 ENSG00000079805 -602379 moved/removed -602380 gene 7348 UPK1B ENSG00000114638 -602381 gene 4665 NAB2 ENSG00000166886 -602382 gene 5337 PLD1 ENSG00000075651 -602383 gene 4969 OGN ENSG00000106809 -602384 gene 5338 PLD2 ENSG00000129219 -602385 gene 6819 SULT1C2 ENSG00000198203 -602386 gene 7988 ZNF212 ENSG00000170260 -602387 gene 5939 RBMS2 ENSG00000076067 -602388 gene 8189 SYMPK ENSG00000125755 -602389 gene 7284 TUFM ENSG00000178952 -602390 phenotype -602391 gene 10400 PEMT ENSG00000133027 -602392 gene 3061 HCRTR1 ENSG00000121764 -602393 gene 3062 HCRTR2 ENSG00000137252 -602394 gene 9221 NOLC1 ENSG00000166197 -602395 gene 57678 GPAM ENSG00000119927 -602396 gene 653145 ANXA8 ENSG00000265190 -602397 gene 5205 ATP8B1 ENSG00000081923 -602398 phenotype -602399 gene 6300 MAPK12 ENSG00000188130 -602400 phenotype -602401 phenotype 101101768 -602402 gene 2303 FOXC2 ENSG00000176692 -602403 gene 642 BLMH ENSG00000108578 -602404 phenotype 5072 -602405 moved/removed -602406 gene 9421 HAND1 ENSG00000113196 -602407 gene 9464 HAND2 ENSG00000164107 -602408 gene 9572 NR1D1 ENSG00000126368 -602409 gene 8028 MLLT10 ENSG00000078403 -602410 gene 7862 BRPF1 ENSG00000156983 -602411 gene 2135 EXTL2 ENSG00000162694 -602412 gene 6229 RPS24 ENSG00000138326 -602413 gene 6391 SDHC ENSG00000143252 -602414 gene 320 APBA1 ENSG00000107282 -602415 gene 1838 DTNB ENSG00000138101 -602416 gene 10239 AP3S2 ENSG00000157823 -602417 moved/removed -602418 predominantly phenotypes -602419 gene 1960 EGR3 ENSG00000179388 -602420 gene 3744 KCNA10 ENSG00000143105 -602421 gene 1080 CFTR ENSG00000001626 -602422 gene 7884 SLBP ENSG00000163950 -602423 gene 10062 NR1H3 ENSG00000025434 -602424 gene 1761 DMRT1 ENSG00000137090 -602425 gene 4216 MAP3K4 ENSG00000085511 -602426 gene 4931 NVL ENSG00000143748 -602427 gene 6911 TBX6 ENSG00000149922 -602428 gene 3038 HAS3 ENSG00000103044 -602429 phenotype 2724 -602430 gene 6091 ROBO1 ENSG00000169855 -602431 gene 6092 ROBO2 ENSG00000185008 -602432 gene 10133 OPTN ENSG00000123240 -602433 phenotype -602434 gene 550 AUP1 ENSG00000115307 -602435 gene 10450 PPIE ENSG00000084072 -602436 gene 4277 MICB ENSG00000204516 -602437 gene 2644 GCHFR ENSG00000137880 -602438 gene 3299 HSF4 ENSG00000102878 -602439 moved/removed -602440 phenotype -602441 gene 1154 CISH ENSG00000114737 -602442 gene 6453 ITSN1 ENSG00000205726 -602443 gene 7511 XPNPEP1 ENSG00000108039 -602444 gene 6940 ZNF354A ENSG00000169131 -602445 gene 5274 SERPINI1 ENSG00000163536 -602446 gene 2262 GPC5 ENSG00000179399 -602447 gene 5445 PON2 ENSG00000105854 -602448 gene 4217 MAP3K5 ENSG00000197442 -602449 gene 8165 AKAP1 ENSG00000121057 -602450 phenotype -602451 gene 5031 P2RY6 ENSG00000171631 -602452 gene 699 BUB1 ENSG00000169679 -602453 gene 3681 ITGAD ENSG00000156886 -602454 gene 10076 PTPRU ENSG00000060656 -602455 moved/removed -602456 moved/removed -602457 gene 8772 FADD ENSG00000168040 -602458 gene 6272 SORT1 ENSG00000134243 -602459 phenotype -602460 gene 5459 POU4F3 ENSG00000091010 -602461 gene 140885 SIRPA ENSG00000198053 -602462 gene 1400 CRMP1 ENSG00000072832 -602463 gene 1808 DPYSL2 ENSG00000092964 -602464 gene 9618 TRAF4 ENSG00000076604 -602465 gene 10252 SPRY1 ENSG00000164056 -602466 gene 10253 SPRY2 ENSG00000136158 -602467 moved/removed -602468 gene 55607 PPP1R9A ENSG00000158528 -602469 gene 2352 FOLR3 ENSG00000110203 -602470 gene 8000 PSCA ENSG00000167653 -602471 phenotype -602472 predominantly phenotypes -602473 phenotype -602474 gene 9088 PKMYT1 ENSG00000127564 -602475 phenotype 7933 -602476 moved/removed -602477 phenotype -602478 gene 1787 TRDMT1 ENSG00000107614 -602479 gene 5453 POU3F1 ENSG00000185668 -602480 gene 5455 POU3F3 ENSG00000198914 -602481 phenotype -602482 phenotype -602483 phenotype -602484 predominantly phenotypes -602485 phenotype -602486 gene 10940 POP1 ENSG00000104356 -602487 gene 10247 RIDA ENSG00000132541 -602488 gene 9266 CYTH2 ENSG00000105443 -602489 gene 10657 KHDRBS1 ENSG00000121774 -602490 gene 8204 NRIP1 ENSG00000180530 -602491 phenotype -602492 gene 5806 PTX3 ENSG00000163661 -602493 gene 7405 UVRAG ENSG00000198382 -602494 gene 6368 CCL23 ENSG00000274736 -602495 gene 6369 CCL24 ENSG00000106178 -602496 gene 4357 MPST ENSG00000128309 -602497 predominantly phenotypes -602498 gene 10342 TFG ENSG00000114354 -602499 phenotype -602500 gene 2804 GOLGB1 ENSG00000173230 -602501 phenotype -602502 gene 2800 GOLGA1 ENSG00000136935 -602503 gene 10023 FRAT1 ENSG00000165879 -602504 gene 6474 SHOX2 ENSG00000168779 -602505 gene 5829 PXN ENSG00000089159 -602506 moved/removed -602507 gene 7844 RNF103 ENSG00000239305 -602508 gene 5049 PAFAH1B2 ENSG00000168092 -602509 gene 2803 GOLGA4 ENSG00000144674 -602510 gene 5794 PTPRH ENSG00000080031 -602511 predominantly phenotypes -602512 gene 6002 RGS12 ENSG00000159788 -602513 gene 10636 RGS14 ENSG00000169220 -602514 gene 6004 RGS16 ENSG00000143333 -602515 gene 2822 GPLD1 ENSG00000112293 -602516 gene 5999 RGS4 ENSG00000117152 -602517 gene 6000 RGS7 ENSG00000182901 -602518 gene 3960 LGALS4 ENSG00000171747 -602519 gene 7874 USP7 ENSG00000187555 -602520 gene 5607 MAP2K5 ENSG00000137764 -602521 gene 5598 MAPK7 ENSG00000166484 -602522 phenotype -602523 gene 1826 DSCAM ENSG00000171587 -602524 gene 5163 PDK1 ENSG00000152256 -602525 gene 5164 PDK2 ENSG00000005882 -602526 moved/removed -602527 gene 5166 PDK4 ENSG00000004799 -602528 gene 7278 TUBA3C ENSG00000198033 -602529 gene 7846 TUBA1A ENSG00000167552 -602530 gene 10376 TUBA1B ENSG00000123416 -602531 phenotype -602532 gene 7955 RNF217-AS1 ENSG00000236548 -602533 gene 11315 PARK7 ENSG00000116288 -602534 gene 8773 SNAP23 ENSG00000092531 -602535 phenotype -602536 gene 22930 RAB3GAP1 ENSG00000115839 -602537 gene 726 CAPN5 ENSG00000149260 -602538 gene 10659 CELF2 ENSG00000048740 -602539 gene 4215 MAP3K3 ENSG00000198909 -602540 phenotype -602541 phenotype -602542 gene 689 BTF3 ENSG00000145741 -602543 gene 690 BTF3P11 -602544 gene 5071 PRKN ENSG00000185345 -602545 gene 5796 PTPRK ENSG00000152894 -602546 gene 8128 ST8SIA2 ENSG00000140557 -602547 gene 7903 ST8SIA4 ENSG00000113532 -602548 gene 4987 OPRL1 ENSG00000125510 -602549 gene 5586 PKN2 ENSG00000065243 -602550 gene 406 ARNTL ENSG00000133794 -602551 predominantly phenotypes -602552 gene 4927 NUP88 ENSG00000108559 -602553 predominantly phenotypes -602554 predominantly phenotypes -602555 predominantly phenotypes -602556 predominantly phenotypes -602557 phenotype -602558 predominantly phenotypes -602559 gene 7514 XPO1 ENSG00000082898 -602560 gene -602561 predominantly phenotypes -602562 predominantly phenotypes -602563 gene 4825 NKX6-1 ENSG00000163623 -602564 predominantly phenotypes -602565 gene 6370 CCL25 ENSG00000131142 -602566 gene 5027 P2RX7 ENSG00000089041 -602567 gene 3987 LIMS1 ENSG00000169756 -602568 gene 4552 MTRR ENSG00000124275 -602569 gene 6620 SNCB ENSG00000074317 -602570 gene 3714 JAG2 ENSG00000184916 -602571 gene 5936 RBM4 ENSG00000173933 -602572 gene 311 ANXA11 ENSG00000122359 -602573 gene 312 ANXA13 ENSG00000104537 -602574 gene 7007 TECTA ENSG00000109927 -602575 gene 4010 LMX1B ENSG00000136944 -602576 gene 3955 LFNG ENSG00000106003 -602577 gene 4242 MFNG ENSG00000100060 -602578 gene 5986 RFNG ENSG00000169733 -602579 phenotype -602580 gene 2801 GOLGA2 ENSG00000167110 -602581 gene 2802 GOLGA3 ENSG00000090615 -602582 gene 1840 DTX1 ENSG00000135144 -602583 gene 2861 GPR37 ENSG00000170775 -602584 gene 5955 RCN2 ENSG00000117906 -602585 moved/removed -602586 moved/removed -602587 gene 11332 ACOT7 ENSG00000097021 -602588 phenotype -602589 gene 2530 FUT8 ENSG00000033170 -602590 gene 5058 PAK1 ENSG00000149269 -602591 gene 3796 KIF2A ENSG00000068796 -602592 gene 922 CD5L ENSG00000073754 -602593 gene 1041 CDSN ENSG00000204539 -602594 phenotype 6114 -602595 gene 8487 GEMIN2 ENSG00000092208 -602596 predominantly phenotypes -602597 gene 607 BCL9 ENSG00000116128 -602598 gene 27306 HPGDS ENSG00000163106 -602599 moved/removed -602600 gene 7804 LRP8 ENSG00000157193 -602601 gene 4973 OLR1 ENSG00000173391 -602602 gene 6398 SECTM1 ENSG00000141574 -602603 gene 4116 MAGOH ENSG00000162385 -602604 moved/removed -602605 moved/removed -602606 gene 9607 CARTPT ENSG00000164326 -602607 gene 6580 SLC22A1 ENSG00000175003 -602608 gene 6582 SLC22A2 ENSG00000112499 -602609 gene 5289 PIK3C3 ENSG00000078142 -602610 gene 30849 PIK3R4 ENSG00000196455 -602611 predominantly phenotypes -602612 predominantly phenotypes -602613 predominantly phenotypes -602614 gene 6885 MAP3K7 ENSG00000135341 -602615 gene 10454 TAB1 ENSG00000100324 -602616 gene 4247 MGAT2 ENSG00000168282 -602617 gene 2304 FOXE1 ENSG00000178919 -602618 gene 1487 CTBP1 ENSG00000159692 -602619 gene 1488 CTBP2 ENSG00000175029 -602620 gene 5641 LGMN ENSG00000100600 -602621 gene 1525 CXADR ENSG00000154639 -602622 gene 1775 DNASE1L2 ENSG00000167968 -602623 gene 2289 FKBP5 ENSG00000096060 -602624 moved/removed -602625 gene 9223 MAGI1 ENSG00000151276 -602626 gene 3556 IL1RAP ENSG00000196083 -602627 gene 990 CDC6 ENSG00000094804 -602628 gene 1112 FOXN3 ENSG00000053254 -602629 phenotype -602630 gene 7050 TGIF1 ENSG00000177426 -602631 gene 5002 SLC22A18 ENSG00000110628 -602632 gene 5420 PODXL ENSG00000128567 -602633 gene 2274 FHL2 ENSG00000115641 -602634 gene 4189 DNAJB9 ENSG00000128590 -602635 gene 10522 DEAF1 ENSG00000177030 -602636 gene 5511 PPP1R8 ENSG00000117751 -602637 gene 6694 SPP2 ENSG00000072080 -602638 gene 4173 MCM4 ENSG00000104738 -602639 phenotype 8137 -602640 gene 10004 NAALADL1 ENSG00000168060 -602641 gene 1973 EIF4A1 ENSG00000161960 -602642 gene 8600 TNFSF11 ENSG00000120659 -602643 gene 4982 TNFRSF11B ENSG00000164761 -602644 gene 7106 TSPAN4 ENSG00000214063 -602645 gene 10512 SEMA3C ENSG00000075223 -602646 gene 2859 GPR35 ENSG00000178623 -602647 gene 10482 NXF1 ENSG00000162231 -602648 gene 1238 ACKR2 ENSG00000144648 -602649 gene 1153 CIRBP ENSG00000099622 -602650 gene 8405 SPOP ENSG00000121067 -602651 gene 4898 NRDC ENSG00000078618 -602652 gene 5653 KLK6 ENSG00000167755 -602653 gene 6975 TECTB ENSG00000119913 -602654 gene 10160 FARP1 ENSG00000152767 -602655 gene 22950 SLC4A1AP ENSG00000163798 -602656 gene 4913 NTHL1 ENSG00000065057 -602657 moved/removed -602658 gene 5138 PDE2A ENSG00000186642 -602659 gene 4331 MNAT1 ENSG00000020426 -602660 gene 10383 TUBB4B ENSG00000188229 -602661 gene 10381 TUBB3 ENSG00000258947 -602662 gene 10382 TUBB4A ENSG00000104833 -602663 gene 51052 PRLH ENSG00000071677 -602664 gene 837 CASP4 ENSG00000196954 -602665 gene 838 CASP5 ENSG00000137757 -602666 gene 51168 MYO15A ENSG00000091536 -602667 gene 4683 NBN ENSG00000104320 -602668 phenotype -602669 gene 5309 PITX3 ENSG00000107859 -602670 gene 5427 POLE2 ENSG00000100479 -602671 gene 2542 SLC37A4 ENSG00000137700 -602672 gene 5872 RAB13 ENSG00000143545 -602673 gene 5655 KLK10 ENSG00000129451 -602674 moved/removed -602675 gene 6051 RNPEP ENSG00000176393 -602676 gene 5147 PDE6D ENSG00000156973 -602677 gene 6048 RNF5 ENSG00000204308 -602678 gene 4140 MARK3 ENSG00000075413 -602679 gene 5833 PCYT2 ENSG00000185813 -602680 gene 394 ARHGAP5 ENSG00000100852 -602681 gene 2309 FOXO3 ENSG00000118689 -602682 gene 575 ADGRB1 ENSG00000181790 -602683 gene 576 ADGRB2 ENSG00000121753 -602684 gene 577 ADGRB3 ENSG00000135298 -602685 phenotype 8126 -602686 gene 8379 MAD1L1 ENSG00000002822 -602687 moved/removed -602688 gene 3182 HNRNPAB ENSG00000197451 -602689 gene 6624 FSCN1 ENSG00000075618 -602690 gene 6392 SDHD ENSG00000204370 -602691 gene 8648 NCOA1 ENSG00000084676 -602692 gene 11010 GLIPR1 ENSG00000139278 -602693 gene 4172 MCM3 ENSG00000112118 -602694 gene 4724 NDUFS4 ENSG00000164258 -602695 gene 8742 TNFSF12 ENSG00000239697 -602696 gene 4174 MCM5 ENSG00000100297 -602697 gene 5032 P2RY11 ENSG00000244165 -602698 gene 4775 NFATC3 ENSG00000072736 -602699 gene 4776 NFATC4 ENSG00000100968 -602700 gene 2033 EP300 ENSG00000100393 -602701 gene 7871 SLMAP ENSG00000163681 -602702 gene 10226 PLIN3 ENSG00000105355 -602703 gene 10300 KATNB1 ENSG00000140854 -602704 gene 4194 MDM4 ENSG00000198625 -602705 gene 8224 SYN3 ENSG00000185666 -602706 gene 5700 PSMC1 ENSG00000100764 -602707 gene 5704 PSMC4 ENSG00000013275 -602708 gene 5706 PSMC6 ENSG00000100519 -602709 gene 322 APBB1 ENSG00000166313 -602710 gene 323 APBB2 ENSG00000163697 -602711 gene 10307 APBB3 ENSG00000113108 -602712 gene 321 APBA2 ENSG00000034053 -602713 gene 8754 ADAM9 ENSG00000168615 -602714 gene 8038 ADAM12 ENSG00000148848 -602715 gene 25802 LMOD1 ENSG00000163431 -602716 gene 4868 NPHS1 ENSG00000161270 -602717 gene 2906 GRIN2D ENSG00000105464 -602718 gene 29896 TRA2A ENSG00000164548 -602719 gene 6434 TRA2B ENSG00000136527 -602720 gene 5446 PON3 ENSG00000105852 -602721 gene 11144 DMC1 ENSG00000100206 -602722 phenotype -602723 phenotype -602724 gene 5413 SEPTIN5 ENSG00000184702 -602725 gene 7866 IFRD2 ENSG00000214706 -602726 gene 1185 CLCN6 ENSG00000011021 -602727 gene 1186 CLCN7 ENSG00000103249 -602728 gene 51435 SCARA3 ENSG00000168077 -602729 gene 2568 GABRP ENSG00000094755 -602730 gene 93 ACVR2B ENSG00000114739 -602731 gene 2533 FYB1 ENSG00000082074 -602732 gene 392 ARHGAP1 ENSG00000175220 -602733 gene 223 ALDH9A1 ENSG00000143149 -602734 gene 5357 PLS1 ENSG00000120756 -602735 gene 5954 RCN1 ENSG00000049449 -602736 gene 518 ATP5MC3 ENSG00000154518 -602737 gene 6366 CCL21 ENSG00000137077 -602738 gene 3837 KPNB1 ENSG00000108424 -602739 gene 5562 PRKAA1 ENSG00000132356 -602740 gene 5564 PRKAB1 ENSG00000111725 -602741 gene 5565 PRKAB2 ENSG00000131791 -602742 gene 5571 PRKAG1 ENSG00000181929 -602743 gene 51422 PRKAG2 ENSG00000106617 -602744 gene 8443 GNPAT ENSG00000116906 -602745 gene 8395 PIP5K1B ENSG00000107242 -602746 gene 8764 TNFRSF14 ENSG00000157873 -602747 gene 1846 DUSP4 ENSG00000120875 -602748 gene 1848 DUSP6 ENSG00000139318 -602749 gene 1849 DUSP7 ENSG00000164086 -602750 gene 1652 DDT ENSG00000099977 -602751 gene 571 BACH1 ENSG00000156273 -602752 gene 727851 RGPD8 ENSG00000169629 -602753 gene 401 PHOX2A ENSG00000165462 -602754 gene 3783 KCNN4 ENSG00000104783 -602755 gene 9133 CCNB2 ENSG00000157456 -602756 gene 1943 EFNA2 ENSG00000099617 -602757 gene 2051 EPHB6 ENSG00000106123 -602758 gene 5298 PI4KB ENSG00000143393 -602759 phenotype 7834 -602760 gene 3882 KRT32 ENSG00000108759 -602761 gene 3883 KRT33A ENSG00000006059 -602762 gene 3884 KRT33B ENSG00000131738 -602763 gene 3885 KRT34 ENSG00000131737 -602764 gene 3886 KRT35 ENSG00000197079 -602765 gene 3889 KRT83 ENSG00000170523 -602766 gene 3890 KRT84 ENSG00000161849 -602767 gene 3891 KRT85 ENSG00000135443 -602768 gene 10683 DLL3 ENSG00000090932 -602769 gene 1788 DNMT3A ENSG00000119772 -602770 gene 84733 CBX2 ENSG00000173894 -602771 phenotype -602772 phenotype -602773 gene 84925 SLC49A4 ENSG00000138463 -602774 gene 5889 RAD51C ENSG00000108384 -602775 gene 8036 SHOC2 ENSG00000108061 -602776 gene 5980 REV3L ENSG00000009413 -602777 gene 6621 SNAPC4 ENSG00000165684 -602778 gene 2649 NR6A1 ENSG00000148200 -602779 gene 9002 F2RL3 ENSG00000127533 -602780 gene 348980 HCN1 ENSG00000164588 -602781 gene 610 HCN2 ENSG00000099822 -602782 phenotype -602783 gene 6687 SPG7 ENSG00000197912 -602784 gene 1325 CORT ENSG00000241563 -602785 gene 8971 H1-10 ENSG00000184897 -602786 gene 3012 H2AC8 ENSG00000277075 -602787 gene 8329 H2AC13 ENSG00000196747 -602788 gene 8330 H2AC15 ENSG00000275221 -602789 moved/removed -602790 gene 2275 FHL3 ENSG00000183386 -602791 gene 8331 H2AC14 ENSG00000276368 -602792 gene 3013 H2AC7 ENSG00000196866 -602793 gene 8332 H2AC16 ENSG00000276903 -602794 gene 8334 H2AC6 ENSG00000180573 -602795 gene 8335 H2AC4 ENSG00000278463 -602796 gene 8336 H2AC17 ENSG00000278677 -602797 gene 8338 H2AC20 ENSG00000184260 -602798 gene 8339 H2BC8 ENSG00000273802 -602799 gene 3017 H2BC5 ENSG00000158373 -602800 gene 8340 H2BC13 ENSG00000185130 -602801 gene 8341 H2BC15 ENSG00000233822 -602802 gene 8342 H2BC14 ENSG00000273703 -602803 gene 3018 H2BC3 ENSG00000276410 -602804 gene 8343 H2BC7 ENSG00000277224 -602805 gene 8344 H2BC6 ENSG00000274290 -602806 gene 8345 H2BC9 ENSG00000275713 -602807 gene 8346 H2BC10 ENSG00000278588 -602808 gene 8348 H2BC17 ENSG00000274641 -602809 gene 3799 KIF5B ENSG00000170759 -602810 gene 8350 H3C1 ENSG00000275714 -602811 gene 8351 H3C4 ENSG00000197409 -602812 gene 8352 H3C3 ENSG00000287080 -602813 gene 8353 H3C6 ENSG00000274750 -602814 gene 8354 H3C11 ENSG00000275379 -602815 gene 8355 H3C8 ENSG00000273983 -602816 gene 8968 H3C7 ENSG00000277775 -602817 gene 8356 H3C12 ENSG00000197153 -602818 gene 8357 H3C10 ENSG00000278828 -602819 gene 8358 H3C2 ENSG00000286522 -602820 gene 8290 H3-4 ENSG00000168148 -602821 gene 3798 KIF5A ENSG00000155980 -602822 gene 8359 H4C1 ENSG00000278637 -602823 gene 8360 H4C4 ENSG00000277157 -602824 gene 8361 H4C6 ENSG00000274618 -602825 gene 8362 H4C12 ENSG00000273542 -602826 gene 8363 H4C11 ENSG00000197238 -602827 gene 8364 H4C3 ENSG00000197061 -602828 gene 8365 H4C8 ENSG00000158406 -602829 gene 8366 H4C2 ENSG00000278705 -602830 gene 8367 H4C5 ENSG00000276966 -602831 gene 8368 H4C13 ENSG00000275126 -602832 gene 8369 H4C7 ENSG00000275663 -602833 gene 8294 H4C9 ENSG00000276180 -602834 moved/removed -602835 gene 2620 GAS2 ENSG00000148935 -602836 gene 5026 P2RX5 ENSG00000083454 -602837 gene 3301 DNAJA1 ENSG00000086061 -602838 gene 5287 PIK3C2B ENSG00000133056 -602839 gene 5293 PIK3CD ENSG00000171608 -602840 gene 970 CD70 ENSG00000125726 -602841 gene 316 AOX1 ENSG00000138356 -602842 gene 51053 GMNN ENSG00000112312 -602843 gene 397 ARHGDIB ENSG00000111348 -602844 gene 398 ARHGDIG ENSG00000242173 -602845 gene 3797 KIF3C ENSG00000084731 -602846 gene 3093 UBE2K ENSG00000078140 -602847 gene 8347 H2BC4 ENSG00000180596 -602848 gene 10902 BRD8 ENSG00000112983 -602849 phenotype -602850 gene 6047 RNF4 ENSG00000063978 -602851 gene 84059 ADGRV1 ENSG00000164199 -602852 gene 318 NUDT2 ENSG00000164978 -602853 gene 5801 PTPRR ENSG00000153233 -602854 gene 5682 PSMA1 ENSG00000129084 -602855 gene 5687 PSMA6 ENSG00000100902 -602856 gene 6001 RGS10 ENSG00000148908 -602857 gene 1124 CHN2 ENSG00000106069 -602858 gene 1717 DHCR7 ENSG00000172893 -602859 gene 5192 PEX10 ENSG00000157911 -602860 gene 701 BUB1B ENSG00000156970 -602861 gene 5318 PKP2 ENSG00000057294 -602862 gene 6675 UAP1 ENSG00000117143 -602863 gene 7483 WNT9A ENSG00000143816 -602864 gene 7484 WNT9B ENSG00000158955 -602865 gene 1620 BRINP1 ENSG00000078725 -602866 gene 41 ASIC1 ENSG00000110881 -602867 gene 3490 IGFBP7 ENSG00000163453 -602868 gene 988 CDC5L ENSG00000096401 -602869 gene 3192 HNRNPU ENSG00000153187 -602870 gene 3617 IMPG1 ENSG00000112706 -602871 gene 5493 PPL ENSG00000118898 -602872 gene 1192 CLIC1 ENSG00000213719 -602873 gene 4892 NRAP ENSG00000197893 -602874 gene 7357 UGCG ENSG00000148154 -602875 phenotype -602876 gene 100506658 OCLN ENSG00000197822 -602877 gene 5510 PPP1R7 ENSG00000115685 -602878 gene 7781 SLC30A3 ENSG00000115194 -602879 gene 2036 EPB41L1 ENSG00000088367 -602880 gene 2657 GDF1 ENSG00000130283 -602881 gene 5252 PHF1 ENSG00000112511 -602882 gene 3950 LECT2 ENSG00000145826 -602883 gene 6579 SLCO1A2 ENSG00000084453 -602884 gene 2762 GMDS ENSG00000112699 -602885 gene 2862 MLNR ENSG00000102539 -602886 gene 2863 GPR39 ENSG00000183840 -602887 gene 1742 DLG4 ENSG00000132535 -602888 gene 635 BHMT ENSG00000145692 -602889 moved/removed -602890 gene 3820 KLRB1 ENSG00000111796 -602891 gene 3822 KLRC2 ENSG00000205809 -602892 gene 3823 KLRC3 ENSG00000205810 -602893 gene 8302 KLRC4 ENSG00000183542 -602894 gene 3824 KLRD1 ENSG00000134539 -602895 gene 6294 SAFB ENSG00000160633 -602896 gene 5601 MAPK9 ENSG00000050748 -602897 gene 5602 MAPK10 ENSG00000109339 -602898 gene 5600 MAPK11 ENSG00000185386 -602899 gene 5603 MAPK13 ENSG00000156711 -602900 gene 1789 DNMT3B ENSG00000088305 -602901 gene 3842 TNPO1 ENSG00000083312 -602902 gene 687 KLF9 ENSG00000119138 -602903 gene 688 KLF5 ENSG00000102554 -602904 gene 5597 MAPK6 ENSG00000069956 -602905 gene 3787 KCNS1 ENSG00000124134 -602906 gene 3788 KCNS2 ENSG00000156486 -602907 gene 1070 CETN3 ENSG00000153140 -602908 gene 10741 RBBP9 ENSG00000089050 -602909 gene 1364 CLDN4 ENSG00000189143 -602910 gene 1365 CLDN3 ENSG00000165215 -602911 gene 10369 CACNG2 ENSG00000166862 -602912 gene 3692 EIF6 ENSG00000242372 -602913 gene 1263 PLK3 ENSG00000173846 -602914 gene 366 AQP9 ENSG00000103569 -602915 gene 7485 GET1 ENSG00000182093 -602916 gene 7324 UBE2E1 ENSG00000170142 -602917 gene 1827 RCAN1 ENSG00000159200 -602918 gene 2193 FARSA ENSG00000179115 -602919 gene 1796 DOK1 ENSG00000115325 -602920 gene 3927 LASP1 ENSG00000002834 -602921 gene 5623 PSPN ENSG00000125650 -602922 moved/removed -602923 gene 5928 RBBP4 ENSG00000162521 -602924 gene 390 RND3 ENSG00000115963 -602925 gene 5291 PIK3CB ENSG00000051382 -602926 gene 6812 STXBP1 ENSG00000136854 -602927 gene 2842 GPR19 ENSG00000183150 -602928 gene 29767 TMOD2 ENSG00000128872 -602929 gene 4013 VWA5A ENSG00000110002 -602930 gene 57109 REXO4 ENSG00000148300 -602931 gene 4091 SMAD6 ENSG00000137834 -602932 gene 4092 SMAD7 ENSG00000101665 -602933 gene 7205 TRIP6 ENSG00000087077 -602934 gene 6388 SDF2 ENSG00000132581 -602935 gene 2166 FAAH ENSG00000117480 -602936 moved/removed -602937 gene 10370 CITED2 ENSG00000164442 -602938 gene 570 BAAT ENSG00000136881 -602939 gene 2307 FOXS1 ENSG00000179772 -602940 gene 65108 MARCKSL1 ENSG00000175130 -602941 gene 9564 BCAR1 ENSG00000050820 -602942 gene 7813 EVI5 ENSG00000067208 -602943 gene 6097 RORC ENSG00000143365 -602944 gene 1876 E2F6 ENSG00000169016 -602945 gene 10474 TADA3 ENSG00000171148 -602946 gene 10629 TAF6L ENSG00000162227 -602947 gene 8464 SUPT3H ENSG00000196284 -602948 gene 5890 RAD51B ENSG00000182185 -602949 gene 10284 SAP18 ENSG00000150459 -602950 gene 3276 PRMT1 ENSG00000126457 -602951 gene 7539 ZFP37 ENSG00000136866 -602952 gene 7468 NSD2 ENSG00000109685 -602953 gene 23462 HEY1 ENSG00000164683 -602954 gene 5892 RAD51D ENSG00000185379 -602955 gene 6878 TAF6 ENSG00000106290 -602956 gene 2189 FANCG ENSG00000221829 -602957 gene 6367 CCL22 ENSG00000102962 -602958 gene 6446 SGK1 ENSG00000118515 -602959 gene 1917 EEF1A2 ENSG00000101210 -602960 moved/removed -602961 gene 7321 UBE2D1 ENSG00000072401 -602962 gene 7322 UBE2D2 ENSG00000131508 -602963 gene 7323 UBE2D3 ENSG00000109332 -602964 gene 7257 TSNAX ENSG00000116918 -602965 gene 2173 FABP7 ENSG00000164434 -602966 phenotype 4964 -602967 gene 7764 ZNF217 ENSG00000171940 -602968 gene 8537 BCAS1 ENSG00000064787 -602969 gene 2104 ESRRG ENSG00000196482 -602970 gene 3840 KPNA4 ENSG00000186432 -602971 gene 6903 TBCC ENSG00000124659 -602972 gene 5151 PDE8A ENSG00000073417 -602973 gene 5152 PDE9A ENSG00000160191 -602974 gene 364 AQP7 ENSG00000165269 -602975 moved/removed -602976 gene 6945 MLX ENSG00000108788 -602977 gene 2813 GP2 ENSG00000169347 -602978 gene 1911 PHC1 ENSG00000111752 -602979 gene 1912 PHC2 ENSG00000134686 -602980 gene 6733 SRPK2 ENSG00000135250 -602981 gene 165 AEBP1 ENSG00000106624 -602982 gene 3780 KCNN1 ENSG00000105642 -602983 gene 3782 KCNN3 ENSG00000143603 -602984 gene 10001 MED6 ENSG00000133997 -602985 gene 4720 NDUFS2 ENSG00000158864 -602986 gene 1819 DRG2 ENSG00000108591 -602987 gene 5137 PDE1C ENSG00000154678 -602988 gene 5099 PCDH7 ENSG00000169851 -602989 gene 1196 CLK2 ENSG00000176444 -602990 gene 1198 CLK3 ENSG00000179335 -602991 gene 9241 NOG ENSG00000183691 -602992 gene 3903 LAIR1 ENSG00000167613 -602993 gene 3904 LAIR2 ENSG00000167618 -602994 predominantly phenotypes -602995 gene 7335 UBE2V1 ENSG00000244687 -602996 gene 8870 IER3 ENSG00000137331 -602997 gene 8029 CUBN ENSG00000107611 -602998 gene 6623 SNCG ENSG00000173267 -602999 gene 5507 PPP1R3C ENSG00000119938 -603000 gene 3396 MRPL58 ENSG00000167862 -603001 gene 7336 UBE2V2 ENSG00000169139 -603002 gene 30000 TNPO2 ENSG00000105576 -603003 phenotype -603004 gene 2631 NIPSNAP2 ENSG00000146729 -603005 gene 9060 PAPSS2 ENSG00000198682 -603006 gene 1002 CDH4 ENSG00000179242 -603007 gene 1004 CDH6 ENSG00000113361 -603008 gene 1006 CDH8 ENSG00000150394 -603009 gene 8291 DYSF ENSG00000135636 -603010 phenotype 1709 -603011 gene 8293 SERF1A ENSG00000172058 -603012 gene 3304 HSPA1B ENSG00000204388 -603013 phenotype 8400 -603014 gene 5609 MAP2K7 ENSG00000076984 -603015 gene 8295 TRRAP ENSG00000196367 -603016 gene 28513 CDH19 ENSG00000071991 -603017 gene 1015 CDH17 ENSG00000079112 -603018 gene 8707 B3GALT2 ENSG00000162630 -603019 gene 1016 CDH18 ENSG00000145526 -603020 gene 172 AFG3L1P ENSG00000223959 -603021 gene 6183 MRPS12 ENSG00000128626 -603022 gene 1877 E4F1 ENSG00000167967 -603023 gene 10320 IKZF1 ENSG00000185811 -603024 gene 8289 ARID1A ENSG00000117713 -603025 gene 8301 PICALM ENSG00000073921 -603026 gene 5324 PLAG1 ENSG00000181690 -603027 gene 8789 FBP2 ENSG00000130957 -603028 gene 7097 TLR2 ENSG00000137462 -603029 gene 7098 TLR3 ENSG00000164342 -603030 gene 7099 TLR4 ENSG00000136869 -603031 gene 7100 TLR5 ENSG00000187554 -603032 gene 8303 SNN ENSG00000184602 -603033 gene 8292 COLQ ENSG00000206561 -603034 phenotype -603035 gene 3603 IL16 ENSG00000172349 -603036 moved/removed -603037 gene 10637 LEFTY1 ENSG00000243709 -603038 gene 6676 SPAG4 ENSG00000061656 -603039 gene 4335 MNT ENSG00000070444 -603040 phenotype 50970 -603041 phenotype -603042 gene 6613 SUMO2 ENSG00000188612 -603043 gene 8439 NSMAF ENSG00000035681 -603044 gene 5325 PLAGL1 ENSG00000118495 -603045 moved/removed -603046 gene 11236 RNF139 ENSG00000170881 -603047 phenotype -603048 gene 8733 GPAA1 ENSG00000197858 -603049 gene 9352 TXNL1 ENSG00000091164 -603050 gene 10006 ABI1 ENSG00000136754 -603051 gene 8540 AGPS ENSG00000018510 -603052 gene 10898 CPSF4 ENSG00000160917 -603053 gene 8520 HAT1 ENSG00000128708 -603054 gene 26585 GREM1 ENSG00000166923 -603055 gene 22938 SNW1 ENSG00000100603 -603056 gene 5000 ORC4 ENSG00000115947 -603057 gene 8642 DCHS1 ENSG00000166341 -603058 gene 8641 PCDHGB4 ENSG00000253953 -603059 gene 26025 PCDHGA12 ENSG00000253159 -603060 gene 10749 KIF1C ENSG00000129250 -603061 gene 2029 ENSA ENSG00000143420 -603062 gene 10618 TGOLN2 ENSG00000152291 -603063 gene 622 BDH1 ENSG00000161267 -603064 gene 10720 UGT2B11 ENSG00000213759 -603065 gene 8856 NR1I2 ENSG00000144852 -603066 gene 8985 PLOD3 ENSG00000106397 -603067 moved/removed -603068 gene 1844 DUSP2 ENSG00000158050 -603069 gene 1847 DUSP5 ENSG00000138166 -603070 gene 10635 RAD51AP1 ENSG00000111247 -603071 gene 2840 GPR17 ENSG00000144230 -603072 gene 6790 AURKA ENSG00000087586 -603073 gene 7546 ZIC2 ENSG00000043355 -603074 gene 5050 PAFAH1B3 ENSG00000079462 -603075 phenotype -603076 gene 9619 ABCG1 ENSG00000160179 -603077 moved/removed -603078 gene 1111 CHEK1 ENSG00000149554 -603079 gene 8535 CBX4 ENSG00000141582 -603080 gene 6539 SLC6A12 ENSG00000111181 -603081 gene 141 ADPRH ENSG00000144843 -603082 moved/removed -603083 gene 3191 HNRNPL ENSG00000104824 -603084 gene 1615 DARS1 ENSG00000115866 -603085 gene 1317 SLC31A1 ENSG00000136868 -603086 gene 419 ART3 ENSG00000156219 -603087 moved/removed -603088 gene 1318 SLC31A2 ENSG00000136867 -603089 gene 8314 BAP1 ENSG00000163930 -603090 gene 7347 UCHL3 ENSG00000118939 -603091 gene 219333 USP12 ENSG00000152484 -603092 gene 8446 DUSP11 ENSG00000144048 -603093 gene 8708 B3GALT1 ENSG00000172318 -603094 gene 8706 B3GALNT1 ENSG00000169255 -603095 gene 8705 B3GALT4 ENSG00000235863 -603096 moved/removed -603097 gene 528 ATP6V1C1 ENSG00000155097 -603098 phenotype 1705 -603099 gene 10554 AGPAT1 ENSG00000204310 -603100 gene 10555 AGPAT2 ENSG00000169692 -603101 gene 1361 CPB2 ENSG00000080618 -603102 gene 1362 CPD ENSG00000108582 -603103 gene 1369 CPN1 ENSG00000120054 -603104 gene 1370 CPN2 ENSG00000178772 -603105 gene 8532 CPZ ENSG00000109625 -603106 gene 4826 NNAT ENSG00000053438 -603107 gene 6942 TCF20 ENSG00000100207 -603108 gene 22919 MAPRE1 ENSG00000101367 -603109 gene 4088 SMAD3 ENSG00000166949 -603110 gene 4090 SMAD5 ENSG00000113658 -603111 gene 6605 SMARCE1 ENSG00000073584 -603112 gene 6283 S100A12 ENSG00000163221 -603113 gene 5519 PPP2R1B ENSG00000137713 -603114 gene 6282 S100A11 ENSG00000163191 -603115 gene 1660 DHX9 ENSG00000135829 -603116 phenotype 574043 -603117 predominantly phenotypes -603118 gene 1014 CDH16 ENSG00000166589 -603119 predominantly phenotypes -603120 gene 5768 QSOX1 ENSG00000116260 -603121 moved/removed -603122 gene 1794 DOCK2 ENSG00000134516 -603123 gene 1795 DOCK3 ENSG00000088538 -603124 gene 7327 UBE2G2 ENSG00000184787 -603125 gene 8460 TPST1 ENSG00000169902 -603126 gene 8459 TPST2 ENSG00000128294 -603127 gene 8522 GAS7 ENSG00000007237 -603128 gene 6492 SIM1 ENSG00000112246 -603129 gene 8543 LMO4 ENSG00000143013 -603130 gene 8455 ATRN ENSG00000088812 -603131 gene 9512 PMPCB ENSG00000105819 -603132 gene 7743 ZNF189 ENSG00000136870 -603133 predominantly phenotypes -603134 gene 8454 CUL1 ENSG00000055130 -603135 gene 8453 CUL2 ENSG00000108094 -603136 gene 8452 CUL3 ENSG00000036257 -603137 gene 8451 CUL4A ENSG00000139842 -603138 moved/removed -603139 gene 5884 RAD17 ENSG00000152942 -603140 gene 5305 PIP4K2A ENSG00000150867 -603141 gene 8496 PPFIBP1 ENSG00000110841 -603142 gene 8495 PPFIBP2 ENSG00000166387 -603143 gene 8499 PPFIA2 ENSG00000139220 -603144 gene 8541 PPFIA3 ENSG00000177380 -603145 gene 8497 PPFIA4 ENSG00000143847 -603146 gene 5715 PSMD9 ENSG00000110801 -603147 phenotype -603148 gene 467 ATF3 ENSG00000162772 -603149 gene 3605 IL17A ENSG00000112115 -603150 gene 513 ATP5F1D ENSG00000099624 -603151 gene 989 SEPTIN7 ENSG00000122545 -603152 gene 522 ATP5PF ENSG00000154723 -603153 gene 5810 RAD1 ENSG00000113456 -603154 gene 5411 PNN ENSG00000100941 -603155 gene 5784 PTPN14 ENSG00000152104 -603156 gene 670 BPHL ENSG00000137274 -603157 gene 5296 PIK3R2 ENSG00000105647 -603158 gene 9101 USP8 ENSG00000138592 -603159 gene 4037 LRP3 ENSG00000130881 -603160 gene 955 ENTPD6 ENSG00000197586 -603161 gene 956 ENTPD3 ENSG00000168032 -603162 gene 957 ENTPD5 ENSG00000187097 -603163 gene 11341 SCRG1 ENSG00000164106 -603164 gene 8504 PEX3 ENSG00000034693 -603165 phenotype 64069 -603166 gene 5871 MAP4K2 ENSG00000168067 -603167 gene 572 BAD ENSG00000002330 -603168 gene 8408 ULK1 ENSG00000177169 -603169 gene 1522 CTSZ ENSG00000101160 -603170 gene 7005 TEAD3 ENSG00000007866 -603171 gene 4738 NEDD8 ENSG00000129559 -603172 gene 9039 UBA3 ENSG00000144744 -603173 gene 9040 UBE2M ENSG00000130725 -603174 predominantly phenotypes -603175 phenotype -603176 phenotype 8401 -603177 gene 8673 VAMP8 ENSG00000118640 -603178 gene 4329 ALDH6A1 ENSG00000119711 -603179 gene 768 CA9 ENSG00000107159 -603180 gene 11260 XPOT ENSG00000184575 -603181 gene 3608 ILF2 ENSG00000143621 -603182 gene 3609 ILF3 ENSG00000129351 -603183 gene 6253 RTN2 ENSG00000125744 -603184 gene 1024 CDK8 ENSG00000132964 -603185 gene 4678 NASP ENSG00000132780 -603186 gene 1616 DAXX ENSG00000204209 -603187 gene 1068 CETN1 ENSG00000177143 -603188 phenotype 56694 -603189 gene 6811 STX5 ENSG00000162236 -603190 gene 10196 PRMT3 ENSG00000185238 -603191 gene 755 CFAP410 ENSG00000160226 -603192 gene 516 ATP5MC1 ENSG00000159199 -603193 gene 517 ATP5MC2 ENSG00000135390 -603194 phenotype -603195 gene 2854 GPR32 ENSG00000142511 -603196 gene 1690 COCH ENSG00000100473 -603197 gene 10908 PNPLA6 ENSG00000032444 -603198 gene 284119 CAVIN1 ENSG00000177469 -603199 gene 10207 PATJ ENSG00000132849 -603200 gene 8625 RFXANK ENSG00000064490 -603201 gene 8647 ABCB11 ENSG00000073734 -603202 gene 3938 LCT ENSG00000115850 -603203 gene 901 CCNG2 ENSG00000138764 -603204 phenotype 50971 -603205 gene 27136 MORC1 ENSG00000114487 -603206 phenotype 8806 -603207 gene 10490 VTI1B ENSG00000100568 -603208 gene 3769 KCNJ13 ENSG00000115474 -603209 predominantly phenotypes 8418 CMAHP ENSG00000168405 -603210 gene 8629 JRK ENSG00000234616 -603211 gene 8690 JRKL ENSG00000183340 -603212 gene 8419 BFSP2 ENSG00000170819 -603213 gene 3835 KIF22 ENSG00000079616 -603214 gene 5826 ABCD4 ENSG00000119688 -603215 gene 8775 NAPA ENSG00000105402 -603216 gene 8774 NAPG ENSG00000134265 -603217 gene 8417 STX7 ENSG00000079950 -603218 phenotype -603219 gene 3776 KCNK2 ENSG00000082482 -603220 gene 3777 KCNK3 ENSG00000171303 -603221 phenotype 8782 -603222 gene 23642 SNHG1 ENSG00000255717 -603223 gene 9304 SNORD22 ENSG00000277194 -603224 gene 9303 SNORD25 ENSG00000275043 -603225 gene 9302 SNORD26 ENSG00000276788 -603226 gene 9301 SNORD27 ENSG00000275996 -603227 gene 9300 SNORD28 ENSG00000274544 -603228 gene 9297 SNORD29 -603229 gene 9299 SNORD30 ENSG00000277846 -603230 gene 9298 SNORD31 -603231 gene 7752 ZNF200 ENSG00000010539 -603232 gene 4992 OR1F1 ENSG00000168124 -603233 phenotype -603234 gene 368 ABCC6 ENSG00000091262 -603235 gene 6415 SELENOW ENSG00000178980 -603236 gene 4597 MVD ENSG00000167508 -603237 gene 2037 EPB41L2 ENSG00000079819 -603238 gene 8420 SNHG3 ENSG00000242125 -603239 gene 26768 SNORA73B ENSG00000200087 -603240 gene 5003 SLC22A18AS ENSG00000254827 -603241 gene 4045 LSAMP ENSG00000185565 -603242 gene 9976 CLEC2B ENSG00000110852 -603243 gene 267 AMFR ENSG00000159461 -603244 gene 9957 HS3ST1 ENSG00000002587 -603245 gene 26257 NKX2-8 ENSG00000136327 -603246 gene 2975 GTF3C1 ENSG00000077235 -603247 gene 11001 SLC27A2 ENSG00000140284 -603248 gene 658 BMPR1B ENSG00000138696 -603249 gene 8508 NIPSNAP1 ENSG00000184117 -603250 gene 2295 FOXF2 ENSG00000137273 -603251 gene 1025 CDK9 ENSG00000136807 -603252 gene 2300 FOXL1 ENSG00000176678 -603253 gene 8530 CST7 ENSG00000077984 -603254 gene 6597 SMARCA4 ENSG00000127616 -603255 gene 4799 NFX1 ENSG00000086102 -603256 gene 9208 LRRFIP1 ENSG00000124831 -603257 gene 6596 HLTF ENSG00000071794 -603258 gene 3551 IKBKB ENSG00000104365 -603259 moved/removed -603260 gene 56033 BARX1 ENSG00000131668 -603261 gene 8396 PIP4K2B ENSG00000276293 -603262 gene 9061 PAPSS1 ENSG00000138801 -603263 gene 771 CA12 ENSG00000074410 -603264 gene 9028 RHBDL1 ENSG00000103269 -603265 gene 1820 ARID3A ENSG00000116017 -603266 phenotype 8691 -603267 gene 6650 CAPN15 ENSG00000103326 -603268 gene 8509 NDST2 ENSG00000166507 -603269 gene 10929 SRSF8 ENSG00000263465 -603270 gene 515 ATP5PB ENSG00000116459 -603271 gene 11099 PTPN21 ENSG00000070778 -603272 gene 10256 CNKSR1 ENSG00000142675 -603273 gene 8626 TP63 ENSG00000073282 -603274 moved/removed -603275 gene 8394 PIP5K1A ENSG00000143398 -603276 gene 8490 RGS5 ENSG00000143248 -603277 gene 1108 CHD4 ENSG00000111642 -603278 phenotype -603279 gene 9030 ERDA1 -603280 moved/removed -603281 gene 8638 OASL ENSG00000135114 -603282 predominantly phenotypes 7754 ZNF204P -603283 gene 10345 TRDN ENSG00000186439 -603284 phenotype -603285 phenotype -603286 gene 3814 KISS1 ENSG00000170498 -603287 gene 55163 PNPO ENSG00000108439 -603288 gene 11081 KERA ENSG00000139330 -603289 gene 1613 DAPK3 ENSG00000167657 -603290 gene 22941 SHANK2 ENSG00000162105 -603291 gene 662 BNIP1 ENSG00000113734 -603292 gene 663 BNIP2 ENSG00000140299 -603293 gene 664 BNIP3 ENSG00000176171 -603294 gene 8888 MCM3AP ENSG00000160294 -603295 gene 4093 SMAD9 ENSG00000120693 -603296 gene 8649 LAMTOR3 ENSG00000109270 -603297 gene 79659 DYNC2H1 ENSG00000187240 -603298 gene 9374 PPT2 ENSG00000221988 -603299 moved/removed -603300 gene 7127 TNFAIP2 ENSG00000185215 -603301 gene 8462 KLF11 ENSG00000172059 -603302 gene 115 ADCY9 ENSG00000162104 -603303 gene 8658 TNKS ENSG00000173273 -603304 gene 3656 IRAK2 ENSG00000134070 -603305 gene 3756 KCNH1 ENSG00000143473 -603306 gene 6943 TCF21 ENSG00000118526 -603307 gene 631 BFSP1 ENSG00000125864 -603308 gene 1515 CTSV ENSG00000136943 -603309 gene 8621 CDK13 ENSG00000065883 -603310 gene 8654 PDE5A ENSG00000138735 -603311 gene 8317 CDC7 ENSG00000097046 -603312 gene 8424 BBOX1 ENSG00000129151 -603313 gene 144245 ALG10B ENSG00000175548 -603314 gene 10998 SLC27A5 ENSG00000083807 -603315 gene 23413 NCS1 ENSG00000107130 -603316 gene 55907 CMAS ENSG00000111726 -603317 gene 374462 PTPRQ ENSG00000139304 -603318 moved/removed -603319 gene 8416 ANXA9 ENSG00000143412 -603320 gene 8511 MMP23A ENSG00000215914 -603321 gene 8510 MMP23B ENSG00000189409 -603322 gene 4712 NDUFB6 ENSG00000165264 -603323 predominantly phenotypes -603324 gene/phenotype 2707 GJB3 ENSG00000188910 -603325 gene 84687 PPP1R9B ENSG00000108819 -603326 gene 5509 PPP1R3D ENSG00000132825 -603327 gene 8498 RANBP3 ENSG00000031823 -603328 gene 4440 MSI1 ENSG00000135097 -603329 moved/removed -603330 gene 1770 DNAH9 ENSG00000007174 -603331 gene 1781 DYNC1I2 ENSG00000077380 -603332 gene 25981 DNAH1 ENSG00000114841 -603333 gene 146754 DNAH2 ENSG00000183914 -603334 gene 55567 DNAH3 ENSG00000158486 -603335 gene 1767 DNAH5 ENSG00000039139 -603336 gene 1768 DNAH6 ENSG00000115423 -603337 gene 1769 DNAH8 ENSG00000124721 -603338 moved/removed -603339 gene 8701 DNAH11 ENSG00000105877 -603340 gene 201625 DNAH12 ENSG00000174844 -603341 gene 127602 DNAH14 ENSG00000185842 -603342 phenotype 6378 -603343 gene 8480 RAE1 ENSG00000101146 -603344 gene 8615 USO1 ENSG00000138768 -603345 gene 8671 SLC4A4 ENSG00000080493 -603346 gene 4861 NPAS1 ENSG00000130751 -603347 gene 4862 NPAS2 ENSG00000170485 -603348 gene 3091 HIF1A ENSG00000100644 -603349 gene 2034 EPAS1 ENSG00000116016 -603350 gene 4939 OAS2 ENSG00000111335 -603351 gene 4940 OAS3 ENSG00000111331 -603352 gene 332 BIRC5 ENSG00000089685 -603353 gene 9497 SLC4A7 ENSG00000033867 -603354 gene 2636 GBX1 ENSG00000164900 -603355 gene 8720 MBTPS1 ENSG00000140943 -603356 gene 8763 CD164 ENSG00000135535 -603357 gene 8710 SERPINB7 ENSG00000166396 -603358 phenotype -603359 gene 4702 NDUFA8 ENSG00000119421 -603360 gene 9409 PEX16 ENSG00000121680 -603361 gene 8771 TNFRSF6B ENSG00000243509 -603362 gene 6457 SH3GL3 ENSG00000140600 -603363 gene 8545 CGGBP1 ENSG00000163320 -603364 gene 6428 SRSF3 ENSG00000112081 -603365 gene 8479 HIRIP3 ENSG00000149929 -603366 gene 8718 TNFRSF25 ENSG00000215788 -603367 moved/removed -603368 gene 1021 CDK6 ENSG00000105810 -603369 gene 1031 CDKN2C ENSG00000123080 -603370 gene 7358 UGDH ENSG00000109814 -603371 gene 2733 GLE1 ENSG00000119392 -603372 gene/phenotype 7253 TSHR ENSG00000165409 -603373 phenotype -603374 moved/removed -603375 gene 8467 SMARCA5 ENSG00000153147 -603376 predominantly phenotypes -603377 gene 6584 SLC22A5 ENSG00000197375 -603378 gene 8819 SAP30 ENSG00000164105 -603379 gene 8826 IQGAP1 ENSG00000140575 -603380 gene 8825 LIN7A ENSG00000111052 -603381 gene 2317 FLNB ENSG00000136068 -603382 gene 4439 MSH5 ENSG00000204410 -603383 phenotype -603384 gene 8831 SYNGAP1 ENSG00000197283 -603385 gene 8883 NAE1 ENSG00000159593 -603386 phenotype 50975 -603387 phenotype -603388 phenotype 50976 -603389 predominantly phenotypes -603390 gene 8622 PDE8B ENSG00000113231 -603391 moved/removed -603392 gene 638 BIK ENSG00000100290 -603393 predominantly phenotypes -603394 predominantly phenotypes -603395 gene 6674 SPAG1 ENSG00000104450 -603396 predominantly phenotypes -603397 gene 8427 ZNF282 ENSG00000170265 -603398 gene 8840 CCN4 ENSG00000104415 -603399 gene 8839 CCN5 ENSG00000064205 -603400 gene 8838 CCN6 ENSG00000112761 -603401 gene 8546 AP3B1 ENSG00000132842 -603402 gene 8310 ACOX3 ENSG00000087008 -603403 gene 1665 DHX15 ENSG00000109606 -603404 gene 169841 ZNF169 ENSG00000175787 -603405 gene 8449 DHX16 ENSG00000204560 -603406 gene 8805 TRIM24 ENSG00000122779 -603407 gene 8761 PABPC4 ENSG00000090621 -603408 gene 8321 FZD1 ENSG00000157240 -603409 gene 8323 FZD6 ENSG00000164930 -603410 gene 8324 FZD7 ENSG00000155760 -603411 gene -603412 gene 8476 CDC42BPA ENSG00000143776 -603413 gene 7073 TIAL1 ENSG00000151923 -603414 gene 7108 TM7SF2 ENSG00000149809 -603415 gene 6335 SCN9A ENSG00000169432 -603416 predominantly phenotypes 6145 RPL21P1 ENSG00000214760 -603417 gene 5877 RABIF ENSG00000183155 -603418 gene 8574 AKR7A2 ENSG00000053371 -603419 gene 6449 SGTA ENSG00000104969 -603420 gene 813 CALU ENSG00000128595 -603421 gene 8577 TMEFF1 ENSG00000241697 -603422 gene 8572 PDLIM4 ENSG00000131435 -603423 gene 639 PRDM1 ENSG00000057657 -603424 gene 8575 PRKRA ENSG00000180228 -603425 gene 400 ARL1 ENSG00000120805 -603426 gene 8864 PER2 ENSG00000132326 -603427 gene 8863 PER3 ENSG00000049246 -603428 gene 7756 ZNF207 ENSG00000010244 -603429 gene 23 ABCF1 ENSG00000204574 -603430 gene 7753 ZNF202 ENSG00000166261 -603431 gene 7458 EIF4H ENSG00000106682 -603432 gene 7461 CLIP2 ENSG00000106665 -603433 gene 7702 ZNF143 ENSG00000166478 -603434 gene 8682 PEA15 ENSG00000162734 -603435 gene 2880 GPX5 ENSG00000224586 -603436 gene 7755 ZNF205 ENSG00000122386 -603437 gene 8531 YBX3 ENSG00000060138 -603438 predominantly phenotypes -603439 predominantly phenotypes -603440 gene 5128 CDK17 ENSG00000059758 -603441 gene 8814 CDKL1 ENSG00000100490 -603442 gene 8999 CDKL2 ENSG00000138769 -603443 gene 6293 VPS52 ENSG00000223501 -603444 gene 8880 FUBP1 ENSG00000162613 -603445 gene 8570 KHSRP ENSG00000088247 -603446 predominantly phenotypes -603447 gene 8739 HRK ENSG00000135116 -603448 gene 1600 DAB1 ENSG00000173406 -603449 gene 8607 RUVBL1 ENSG00000175792 -603450 gene 9079 LDB2 ENSG00000169744 -603451 gene 8861 LDB1 ENSG00000198728 -603452 moved/removed -603453 gene 8737 RIPK1 ENSG00000137275 -603454 gene 8738 CRADD ENSG00000169372 -603455 gene 8767 RIPK2 ENSG00000104312 -603456 gene 1802 DPH2 ENSG00000132768 -603457 phenotype -603458 gene 1995 ELAVL3 ENSG00000196361 -603459 moved/removed -603460 gene 8851 CDK5R1 ENSG00000176749 -603461 gene 8881 CDC16 ENSG00000130177 -603462 gene 8697 CDC23 ENSG00000094880 -603463 moved/removed -603464 gene 8558 CDK10 ENSG00000185324 -603465 gene 8318 CDC45 ENSG00000093009 -603466 gene 1994 ELAVL1 ENSG00000066044 -603467 phenotype -603468 moved/removed -603469 moved/removed -603470 gene 445 ASS1 ENSG00000130707 -603471 phenotype -603472 phenotype -603473 gene 9113 LATS1 ENSG00000131023 -603474 gene 6223 RPS19 ENSG00000105372 -603475 gene 8646 CHRD ENSG00000090539 -603476 gene 1389 CREBL2 ENSG00000111269 -603477 gene 8896 BUD31 ENSG00000106245 -603478 gene 7398 USP1 ENSG00000162607 -603479 gene 1842 ECM2 ENSG00000106823 -603480 moved/removed -603481 gene 5719 PSMD13 ENSG00000185627 -603482 gene 8945 BTRC ENSG00000166167 -603483 gene 8637 EIF4EBP3 ENSG00000243056 -603484 gene 9055 PRC1 ENSG00000198901 -603485 gene 9054 NFS1 ENSG00000244005 -603486 gene 7375 USP4 ENSG00000114316 -603487 gene 8735 MYH13 ENSG00000006788 -603488 gene 14 AAMP ENSG00000127837 -603489 gene 8483 CILP ENSG00000138615 -603490 gene 54361 WNT4 ENSG00000162552 -603491 gene 3321 IGSF3 ENSG00000143061 -603492 gene 6504 SLAMF1 ENSG00000117090 -603493 gene 8645 KCNK5 ENSG00000164626 -603494 gene 8725 URI1 ENSG00000105176 -603495 gene 6795 AURKC ENSG00000105146 -603496 gene 8445 DYRK2 ENSG00000127334 -603497 gene 8444 DYRK3 ENSG00000143479 -603498 gene 6610 SMPD2 ENSG00000135587 -603499 gene 8792 TNFRSF11A ENSG00000141655 -603500 gene 8717 TRADD ENSG00000102871 -603501 gene 8505 PARG ENSG00000227345 -603502 gene 3475 IFRD1 ENSG00000006652 -603503 gene 8813 DPM1 ENSG00000000419 -603504 gene 8556 CDC14A ENSG00000079335 -603505 gene 8555 CDC14B ENSG00000081377 -603506 gene 4041 LRP5 ENSG00000162337 -603507 gene 4040 LRP6 ENSG00000070018 -603508 gene 8736 MYOM1 ENSG00000101605 -603509 gene 9172 MYOM2 ENSG00000036448 -603510 moved/removed -603511 phenotype -603512 gene 8732 RNGTT ENSG00000111880 -603513 moved/removed -603514 gene 8731 RNMT ENSG00000101654 -603515 gene 1444 CSHL1 ENSG00000204414 -603516 phenotype -603517 gene 8915 BCL10 ENSG00000142867 -603518 gene 7072 TIA1 ENSG00000116001 -603519 gene 10285 SMNDC1 ENSG00000119953 -603520 gene 6629 SNRPB2 ENSG00000125870 -603521 gene 6627 SNRPA1 ENSG00000131876 -603522 gene 6631 SNRPC ENSG00000124562 -603523 predominantly phenotypes -603524 gene 1102 RCBTB2 ENSG00000136161 -603525 gene 9111 NMI ENSG00000123609 -603526 gene 9112 MTA1 ENSG00000182979 -603527 gene 1801 DPH1 ENSG00000108963 -603528 moved/removed -603529 predominantly phenotypes -603530 predominantly phenotypes -603531 gene 1174 AP1S1 ENSG00000106367 -603532 moved/removed -603533 gene 164 AP1G1 ENSG00000166747 -603534 gene 8906 AP1G2 ENSG00000213983 -603535 gene 8907 AP1M1 ENSG00000072958 -603536 gene 8939 FUBP3 ENSG00000107164 -603537 gene 9132 KCNQ4 ENSG00000117013 -603538 gene 8564 KMO ENSG00000117009 -603539 gene 8722 CTSF ENSG00000174080 -603540 gene 2550 GABBR1 ENSG00000204681 -603541 gene 6636 SNRPF ENSG00000139343 -603542 gene 6637 SNRPG ENSG00000143977 -603543 phenotype -603544 gene 8812 CCNK ENSG00000090061 -603545 moved/removed -603546 phenotype -603547 gene 8932 MBD2 ENSG00000134046 -603548 gene 1040 CDS1 ENSG00000163624 -603549 gene 8760 CDS2 ENSG00000101290 -603550 gene 2070 EYA4 ENSG00000112319 -603551 gene 8692 HYAL2 ENSG00000068001 -603552 phenotype -603553 phenotype -603554 phenotype -603555 gene 6827 SUPT4H1 ENSG00000213246 -603556 moved/removed -603557 gene 8898 MTMR2 ENSG00000087053 -603558 gene 8897 MTMR3 ENSG00000100330 -603559 gene 9110 MTMR4 ENSG00000108389 -603560 gene 6305 SBF1 ENSG00000100241 -603561 gene 9107 MTMR6 ENSG00000139505 -603562 gene 9108 MTMR7 ENSG00000003987 -603563 phenotype -603564 gene 8818 DPM2 ENSG00000136908 -603565 gene 8693 GALNT4 ENSG00000257594 -603566 gene 8554 PIAS1 ENSG00000033800 -603567 gene 9063 PIAS2 ENSG00000078043 -603568 gene 8944 SNORD73A ENSG00000208797 -603569 predominantly phenotypes -603570 gene/phenotype 8876 VNN1 ENSG00000112299 -603571 gene 8875 VNN2 ENSG00000112303 -603572 predominantly phenotypes -603573 gene 53615 MBD3 ENSG00000071655 -603574 gene 8930 MBD4 ENSG00000129071 -603575 gene 8382 NME5 ENSG00000112981 -603576 gene 4308 TRPM1 ENSG00000134160 -603577 gene 8715 NOL4 ENSG00000101746 -603578 gene 5016 OVGP1 ENSG00000085465 -603579 gene 8780 RIOK3 ENSG00000101782 -603580 gene 5100 PCDH8 ENSG00000136099 -603581 gene 5101 PCDH9 ENSG00000184226 -603582 gene 8940 TOP3B ENSG00000100038 -603583 gene 1740 DLG2 ENSG00000150672 -603584 gene 8567 MADD ENSG00000110514 -603585 phenotype -603586 moved/removed -603587 predominantly phenotypes -603588 predominantly phenotypes -603589 predominantly phenotypes -603590 gene 9215 LARGE1 ENSG00000133424 -603591 gene 8975 USP13 ENSG00000058056 -603592 phenotype -603593 gene 9056 SLC7A7 ENSG00000155465 -603594 gene 7292 TNFSF4 ENSG00000117586 -603595 predominantly phenotypes -603596 phenotype -603597 gene 8651 SOCS1 ENSG00000185338 -603598 gene 8743 TNFSF10 ENSG00000121858 -603599 gene 8837 CFLAR ENSG00000003402 -603600 predominantly phenotypes -603601 gene 5286 PIK3C2A ENSG00000011405 -603602 gene 8605 PLA2G4C ENSG00000105499 -603603 gene 8399 PLA2G10 ENSG00000069764 -603604 gene 8398 PLA2G6 ENSG00000184381 -603605 gene 9255 AIMP1 ENSG00000164022 -603606 gene 8986 RPS6KA4 ENSG00000162302 -603607 gene 9252 RPS6KA5 ENSG00000100784 -603608 gene 874 CBR3 ENSG00000159231 -603609 gene 8790 FPGT ENSG00000254685 -603610 gene 8633 UNC5C ENSG00000182168 -603611 gene 8797 TNFRSF10A ENSG00000104689 -603612 gene 8795 TNFRSF10B ENSG00000120889 -603613 gene 8794 TNFRSF10C ENSG00000173535 -603614 gene 8793 TNFRSF10D ENSG00000173530 -603615 gene 8438 RAD54L ENSG00000085999 -603616 gene 9135 RABEP1 ENSG00000029725 -603617 gene 9187 SLC24A1 ENSG00000074621 -603618 gene 991 CDC20 ENSG00000117399 -603619 gene 51343 FZR1 ENSG00000105325 -603620 gene 11168 PSIP1 ENSG00000164985 -603621 gene 8928 FOXH1 ENSG00000160973 -603622 phenotype -603623 gene 8565 YARS1 ENSG00000134684 -603624 gene 6187 RPS2 ENSG00000140988 -603625 gene 4062 LY6H ENSG00000176956 -603626 gene 5097 PCDH1 ENSG00000156453 -603627 gene 5098 PCDHGC3 ENSG00000240184 -603628 gene 9242 MSC ENSG00000178860 -603629 phenotype -603630 gene 6193 RPS5 ENSG00000083845 -603631 gene 6203 RPS9 ENSG00000170889 -603632 gene 6204 RPS10 ENSG00000124614 -603633 gene 6235 RPS29 ENSG00000213741 -603634 gene 6125 RPL5 ENSG00000122406 -603635 gene 6083 SNORD21 ENSG00000206680 -603636 gene 6144 RPL21 ENSG00000122026 -603637 gene 6157 RPL27A ENSG00000166441 -603638 gene 6158 RPL28 ENSG00000108107 -603639 gene 6868 ADAM17 ENSG00000151694 -603640 gene 8728 ADAM19 ENSG00000135074 -603641 predominantly phenotypes -603642 predominantly phenotypes -603643 predominantly phenotypes -603644 gene 6341 SCO1 ENSG00000133028 -603645 gene 5188 GATB ENSG00000059691 -603646 gene 1355 COX15 ENSG00000014919 -603647 gene 617 BCS1L ENSG00000074582 -603648 gene 1353 COX11 ENSG00000166260 -603649 phenotype -603650 gene 129880 BBS5 ENSG00000163093 -603651 gene 7223 TRPC4 ENSG00000133107 -603652 gene 7225 TRPC6 ENSG00000137672 -603653 moved/removed -603654 gene 9194 SLC16A7 ENSG00000118596 -603655 moved/removed -603656 predominantly phenotypes -603657 gene 9341 VAMP3 ENSG00000049245 -603658 gene 6201 RPS7 ENSG00000171863 -603659 gene 9340 GLP2R ENSG00000065325 -603660 gene 6206 RPS12 ENSG00000112306 -603661 gene 6139 RPL17 ENSG00000265681 -603662 gene 9349 RPL23 ENSG00000125691 -603663 phenotype 10386 -603664 predominantly phenotypes 50979 -603665 gene 8614 STC2 ENSG00000113739 -603666 gene 8675 STX16 ENSG00000124222 -603667 gene 8604 SLC25A12 ENSG00000115840 -603668 gene 9169 SCAF11 ENSG00000139218 -603669 predominantly phenotypes -603670 predominantly phenotypes -603671 phenotype -603672 gene 9139 CBFA2T2 ENSG00000078699 -603673 gene 8643 PTCH2 ENSG00000117425 -603674 gene 6210 RPS15A ENSG00000134419 -603675 gene 6217 RPS16 ENSG00000105193 -603676 moved/removed -603677 gene -603678 phenotype 1706 -603679 gene 7334 UBE2N ENSG00000177889 -603680 gene 6315 ATXN8OS -603681 gene 9381 OTOF ENSG00000115155 -603682 gene 6224 RPS20 ENSG00000008988 -603683 gene 6228 RPS23 ENSG00000186468 -603684 gene 9388 LIPG ENSG00000101670 -603685 gene 6234 RPS28 ENSG00000233927 -603686 gene 6133 RPL9 ENSG00000163682 -603687 gene 8854 ALDH1A2 ENSG00000128918 -603688 phenotype -603689 phenotype -603690 gene 9197 SLC33A1 ENSG00000169359 -603691 gene 8811 GALR2 ENSG00000182687 -603692 gene 8484 GALR3 ENSG00000128310 -603693 gene 23414 ZFPM2 ENSG00000169946 -603694 phenotype 50982 -603695 gene 2974 GUCY1B2 ENSG00000123201 -603696 gene 5414 SEPTIN4 ENSG00000108387 -603697 gene 247 ALOX15B ENSG00000179593 -603698 gene 8729 GBF1 ENSG00000107862 -603699 gene 7481 WNT11 ENSG00000085741 -603700 gene 241 ALOX5AP ENSG00000132965 -603701 gene 6231 RPS26 ENSG00000197728 -603702 gene 6232 RPS27 ENSG00000177954 -603703 gene 6128 RPL6 ENSG00000089009 -603704 gene 6154 RPL26 ENSG00000161970 -603705 gene 51378 ANGPT4 ENSG00000101280 -603706 gene 10505 SEMA4F ENSG00000135622 -603707 gene 4337 MOCS1 ENSG00000124615 -603708 gene 4338 MOCS2 ENSG00000164172 -603709 gene 53616 ADAM22 ENSG00000008277 -603710 gene 8745 ADAM23 ENSG00000114948 -603711 gene 9420 CYP7B1 ENSG00000172817 -603712 gene 8748 ADAM20 ENSG00000134007 -603713 gene 8747 ADAM21 ENSG00000139985 -603714 gene 6496 SIX3 ENSG00000138083 -603715 gene 8521 GCM1 ENSG00000137270 -603716 gene 9247 GCM2 ENSG00000124827 -603717 gene 533 ATP6V0B ENSG00000117410 -603718 gene 9076 CLDN1 ENSG00000163347 -603719 gene 9184 BUB3 ENSG00000154473 -603720 phenotype -603721 gene 7332 UBE2L3 ENSG00000185651 -603722 gene 8518 ELP1 ENSG00000070061 -603723 moved/removed -603724 moved/removed -603725 gene 8822 FGF17 ENSG00000158815 -603726 gene 8817 FGF18 ENSG00000156427 -603727 gene 5859 QARS1 ENSG00000172053 -603728 gene 8650 NUMB ENSG00000133961 -603729 gene 8879 SGPL1 ENSG00000166224 -603730 gene 8877 SPHK1 ENSG00000176170 -603731 gene 9337 CNOT8 ENSG00000155508 -603732 gene 1408 CRY2 ENSG00000121671 -603733 gene 8501 SLC43A1 ENSG00000149150 -603734 gene 3661 IRF3 ENSG00000126456 -603735 gene 8639 AOC3 ENSG00000131471 -603736 phenotype -603737 predominantly phenotypes -603738 predominantly phenotypes 652963 BTF3P12 -603739 predominantly phenotypes 132556 BTF3P13 -603740 predominantly phenotypes -603741 gene 242 ALOX12B ENSG00000179477 -603742 gene 6585 SLIT1 ENSG00000187122 -603743 gene 8542 APOL1 ENSG00000100342 -603744 predominantly phenotypes -603745 gene 6586 SLIT3 ENSG00000184347 -603746 gene 9353 SLIT2 ENSG00000145147 -603747 gene 7165 TPD52L2 ENSG00000101150 -603748 moved/removed -603749 gene 7226 TRPM2 ENSG00000142185 -603750 gene 343 AQP8 ENSG00000103375 -603751 gene 8698 S1PR4 ENSG00000125910 -603752 gene 6545 SLC7A4 ENSG00000099960 -603753 gene 9354 UBE4A ENSG00000110344 -603754 gene 9371 KIF3B ENSG00000101350 -603755 gene 9372 ZFYVE9 ENSG00000157077 -603756 gene 9429 ABCG2 ENSG00000118777 -603757 gene 6362 CCL18 ENSG00000275385 -603758 gene 2954 GSTZ1 ENSG00000100577 -603759 gene 9355 LHX2 ENSG00000106689 -603760 gene 3364 HUS1 ENSG00000136273 -603761 gene 5883 RAD9A ENSG00000172613 -603762 gene 5636 PRPSAP2 ENSG00000141127 -603763 gene 3833 KIFC1 ENSG00000237649 -603764 gene 8941 CDK5R2 ENSG00000171450 -603765 gene 8677 STX10 ENSG00000104915 -603766 gene 4528 MTIF2 ENSG00000085760 -603767 gene 9622 KLK4 ENSG00000167749 -603768 gene 4660 PPP1R12B ENSG00000077157 -603769 gene 9623 TCL1B ENSG00000213231 -603770 gene 5495 PPM1B ENSG00000138032 -603771 gene 5514 PPP1R10 ENSG00000204569 -603772 gene 1780 DYNC1I1 ENSG00000158560 -603773 gene 9377 COX5A ENSG00000178741 -603774 gene 1350 COX7C ENSG00000127184 -603775 gene 9134 CCNE2 ENSG00000175305 -603776 phenotype -603777 gene 9350 CER1 ENSG00000147869 -603778 gene 9425 CDYL ENSG00000153046 -603779 gene 9627 SNCAIP ENSG00000064692 -603780 gene 9401 RECQL4 ENSG00000160957 -603781 gene 9400 RECQL5 ENSG00000108469 -603782 gene 388372 CCL4L1 -603783 phenotype 100462721 -603784 gene 754 PTTG1IP ENSG00000183255 -603785 gene 8777 MPDZ ENSG00000107186 -603786 phenotype -603787 gene 3754 KCNF1 ENSG00000162975 -603788 gene 3755 KCNG1 ENSG00000026559 -603789 moved/removed -603790 gene 9963 SLC23A1 ENSG00000170482 -603791 gene 9962 SLC23A2 ENSG00000089057 -603792 moved/removed -603793 moved/removed -603794 predominantly phenotypes -603795 gene 9516 LITAF ENSG00000189067 -603796 gene 9992 KCNE2 ENSG00000159197 -603797 gene 8534 CHST1 ENSG00000175264 -603798 gene 9435 CHST2 ENSG00000175040 -603799 gene 9469 CHST3 ENSG00000122863 -603800 gene 9412 MED21 ENSG00000152944 -603801 gene 9397 NMT2 ENSG00000152465 -603802 phenotype -603803 gene 1602 DACH1 ENSG00000276644 -603804 gene 9148 NEURL1 ENSG00000107954 -603805 gene 9333 TGM5 ENSG00000104055 -603806 predominantly phenotypes -603807 moved/removed -603808 gene 9969 MED13 ENSG00000108510 -603809 gene 9967 THRAP3 ENSG00000054118 -603810 gene 9440 MED17 ENSG00000042429 -603811 gene 8815 BANF1 ENSG00000175334 -603812 gene 8816 DCAF5 ENSG00000139990 -603813 phenotype -603814 gene 9978 RBX1 ENSG00000100387 -603815 gene 3834 KIF25 ENSG00000125337 -603816 gene 8312 AXIN1 ENSG00000103126 -603817 gene 8853 ASAP2 ENSG00000151693 -603818 gene 9542 NRG2 ENSG00000158458 -603819 gene 10011 SRA1 ENSG00000213523 -603820 gene 2864 FFAR1 ENSG00000126266 -603821 gene 2865 FFAR3 ENSG00000185897 -603822 gene 2866 GPR42 ENSG00000126251 -603823 gene 2867 FFAR2 ENSG00000126262 -603824 gene 10020 GNE ENSG00000159921 -603825 gene 3090 HIC1 ENSG00000177374 -603826 gene 9971 NR1H4 ENSG00000012504 -603827 gene 10018 BCL2L11 ENSG00000153094 -603828 predominantly phenotypes -603829 phenotype -603830 phenotype -603831 gene 5174 PDZK1 ENSG00000174827 -603832 gene 4696 NDUFA3 ENSG00000170906 -603833 gene 4697 NDUFA4 ENSG00000189043 -603834 gene 4704 NDUFA9 ENSG00000139180 -603835 gene 4705 NDUFA10 ENSG00000130414 -603836 gene 4706 NDUFAB1 ENSG00000004779 -603837 gene 4707 NDUFB1 ENSG00000183648 -603838 gene 4708 NDUFB2 ENSG00000090266 -603839 gene 4709 NDUFB3 ENSG00000119013 -603840 gene 4710 NDUFB4 ENSG00000065518 -603841 gene 4711 NDUFB5 ENSG00000136521 -603842 gene 4713 NDUFB7 ENSG00000099795 -603843 gene 4716 NDUFB10 ENSG00000140990 -603844 gene 4717 NDUFC1 ENSG00000109390 -603845 gene 4718 NDUFC2 ENSG00000151366 -603846 gene 4722 NDUFS3 ENSG00000213619 -603847 gene 4725 NDUFS5 ENSG00000168653 -603848 gene 4726 NDUFS6 ENSG00000145494 -603849 gene 7101 NR2E1 ENSG00000112333 -603850 gene 10059 DNM1L ENSG00000087470 -603851 gene 8929 PHOX2B ENSG00000109132 -603852 gene 10078 TSSC4 ENSG00000184281 -603853 gene 10077 TSPAN32 ENSG00000064201 -603854 gene 10048 RANBP9 ENSG00000010017 -603855 phenotype 10167 -603856 gene 7681 MKRN3 ENSG00000179455 -603857 gene 10108 -603858 moved/removed -603859 gene 10165 SLC25A13 ENSG00000004864 -603860 moved/removed -603861 gene 10166 SLC25A15 ENSG00000102743 -603862 gene 905 CCNT2 ENSG00000082258 -603863 gene 9616 RNF7 ENSG00000114125 -603864 gene 9973 CCS ENSG00000173992 -603865 gene 9945 GFPT2 ENSG00000131459 -603866 gene 8800 PEX11A ENSG00000166821 -603867 gene 8799 PEX11B ENSG00000131779 -603868 gene 5873 RAB27A ENSG00000069974 -603869 gene 5874 RAB27B ENSG00000041353 -603870 gene 863 CBFA2T3 ENSG00000129993 -603871 gene 705 BYSL ENSG00000112578 -603872 gene 10024 TROAP ENSG00000135451 -603873 gene 9373 PLAA ENSG00000137055 -603874 gene 9068 ANGPTL1 ENSG00000116194 -603875 gene 944 TNFSF8 ENSG00000106952 -603876 gene 9507 ADAMTS4 ENSG00000158859 -603877 gene 9123 SLC16A3 ENSG00000141526 -603878 gene 9122 SLC16A4 ENSG00000168679 -603879 gene 9121 SLC16A5 ENSG00000170190 -603880 gene 9120 SLC16A6 ENSG00000108932 -603881 gene 9970 NR1I3 ENSG00000143257 -603882 gene 9532 BAG2 ENSG00000112208 -603883 gene 9531 BAG3 ENSG00000151929 -603884 gene 9530 BAG4 ENSG00000156735 -603885 gene 9529 BAG5 ENSG00000166170 -603886 gene 9048 ARTN ENSG00000117407 -603887 gene 8914 TIMELESS ENSG00000111602 -603888 gene 3790 KCNS3 ENSG00000170745 -603889 gene 10326 SIRPB1 ENSG00000101307 -603890 gene 9246 UBE2L6 ENSG00000156587 -603891 gene 9965 FGF19 ENSG00000162344 -603892 gene 9343 EFTUD2 ENSG00000108883 -603893 gene 10010 TANK ENSG00000136560 -603894 gene 9628 RGS6 ENSG00000182732 -603895 gene 8786 RGS11 ENSG00000076344 -603896 phenotype -603897 gene 8785 MATN4 ENSG00000124159 -603898 gene 8995 TNFSF18 ENSG00000120337 -603899 gene 7639 ZNF85 ENSG00000105750 -603900 gene 7727 ZNF174 ENSG00000103343 -603901 gene 8882 ZPR1 ENSG00000109917 -603902 phenotype -603903 phenotype -603904 gene 9445 ITM2B ENSG00000136156 -603905 gene 8784 TNFRSF18 ENSG00000186891 -603906 gene 1179 CLCA1 ENSG00000016490 -603907 gene 1965 EIF2S1 ENSG00000134001 -603908 gene 8894 EIF2S2 ENSG00000125977 -603909 phenotype -603910 gene 8669 EIF3J ENSG00000104131 -603911 gene 8668 EIF3I ENSG00000084623 -603912 gene 8667 EIF3H ENSG00000147677 -603913 gene 8666 EIF3G ENSG00000130811 -603914 gene 8665 EIF3F ENSG00000175390 -603915 gene 8664 EIF3D ENSG00000100353 -603916 gene 8663 EIF3C ENSG00000184110 -603917 gene 8662 EIF3B ENSG00000106263 -603918 phenotype 117191 -603919 gene 6793 STK10 ENSG00000072786 -603920 gene 9946 CRYZL1 ENSG00000205758 -603921 gene 8803 SUCLA2 ENSG00000136143 -603922 gene 8801 SUCLG2 ENSG00000172340 -603923 moved/removed -603924 gene 3026 HABP2 ENSG00000148702 -603925 gene 9145 SYNGR1 ENSG00000100321 -603926 gene 9144 SYNGR2 ENSG00000108639 -603927 gene 9143 SYNGR3 ENSG00000127561 -603928 gene 1975 EIF4B ENSG00000063046 -603929 gene 8672 EIF4G3 ENSG00000075151 -603930 gene 10243 GPHN ENSG00000171723 -603931 gene 8992 ATP6V0E1 ENSG00000113732 -603932 phenotype -603933 phenotype -603934 gene 10498 CARM1 ENSG00000142453 -603935 phenotype 10547 -603936 gene 10220 GDF11 ENSG00000135414 -603937 gene 6101 RP1 ENSG00000104237 -603938 moved/removed -603939 gene 9424 KCNK6 ENSG00000099337 -603940 gene 10089 KCNK7 ENSG00000173338 -603941 gene 10560 SLC19A2 ENSG00000117479 -603942 gene 2992 GYG1 ENSG00000163754 -603943 gene 1036 CDO1 ENSG00000129596 -603944 gene 10228 STX6 ENSG00000135823 -603945 gene 8893 EIF2B5 ENSG00000145191 -603946 gene 3070 HELLS ENSG00000119969 -603947 gene 9219 MTA2 ENSG00000149480 -603948 gene 9972 NUP153 ENSG00000124789 -603949 gene 8934 RAB29 ENSG00000117280 -603950 gene 9348 NDST3 ENSG00000164100 -603951 gene 3779 KCNMB1 ENSG00000145936 -603952 gene 4733 DRG1 ENSG00000185721 -603953 gene 3770 KCNJ14 ENSG00000182324 -603954 gene 9183 ZW10 ENSG00000086827 -603955 gene 2327 FMO2 ENSG00000094963 -603956 phenotype -603957 gene 2330 FMO5 ENSG00000131781 -603958 gene 5992 RFX4 ENSG00000111783 -603959 gene 10686 CLDN16 ENSG00000113946 -603960 gene 881 CCIN ENSG00000185972 -603961 gene 10371 SEMA3A ENSG00000075213 -603962 gene 10125 RASGRP1 ENSG00000172575 -603963 gene 3680 ITGA9 ENSG00000144668 -603964 phenotype 1694 -603965 phenotype -603966 gene 8644 AKR1C3 ENSG00000196139 -603967 gene 6329 SCN4A ENSG00000007314 -603968 gene 5429 POLH ENSG00000170734 -603969 gene 10673 TNFSF13B ENSG00000102524 -603970 gene 10687 PNMA2 ENSG00000240694 -603971 gene 7644 ZNF91 ENSG00000167232 -603972 gene 7594 ZNF43 ENSG00000198521 -603973 gene 7643 ZNF90 ENSG00000213988 -603974 gene 168374 ZNF92 ENSG00000146757 -603975 gene 81931 ZNF93 ENSG00000184635 -603976 predominantly phenotypes -603977 gene 7757 ZNF208 ENSG00000160321 -603978 gene 9753 ZSCAN12 ENSG00000158691 -603979 predominantly phenotypes -603980 gene 148198 ZNF98 ENSG00000197360 -603981 gene 7652 ZNF99 ENSG00000213973 -603982 gene 163227 ZNF100 ENSG00000197020 -603983 gene 94039 ZNF101 ENSG00000181896 -603984 gene 100129842 ZNF737 ENSG00000237440 -603985 predominantly phenotypes -603986 moved/removed -603987 predominantly phenotypes -603988 predominantly phenotypes -603989 gene 51427 ZNF107 ENSG00000196247 -603990 moved/removed -603991 predominantly phenotypes -603992 predominantly phenotypes -603993 predominantly phenotypes -603994 gene 7771 ZNF112 ENSG00000062370 -603995 predominantly phenotypes -603996 gene 163071 ZNF114 ENSG00000178150 -603997 predominantly phenotypes -603998 predominantly phenotypes -603999 gene -604000 predominantly phenotypes -604001 gene 10142 AKAP9 ENSG00000127914 -604002 gene 9475 ROCK2 ENSG00000134318 -604003 gene 9635 CLCA2 ENSG00000137975 -604004 phenotype -604005 moved/removed -604006 moved/removed -604007 moved/removed -604008 gene 5804 PTPRZ2 -604009 gene 8938 BAIAP3 ENSG00000007516 -604010 gene 9240 PNMA1 ENSG00000176903 -604011 gene/phenotype 9094 UNC119 ENSG00000109103 -604012 gene 6082 SNORD20 ENSG00000207280 -604013 gene 8704 B4GALT2 ENSG00000117411 -604014 gene 8703 B4GALT3 ENSG00000158850 -604015 gene 8702 B4GALT4 ENSG00000121578 -604016 gene 9334 B4GALT5 ENSG00000158470 -604017 gene 9331 B4GALT6 ENSG00000118276 -604018 gene 9253 NUMBL ENSG00000105245 -604019 gene 3268 AGFG2 ENSG00000106351 -604020 gene 8927 BSN ENSG00000164061 -604021 moved/removed -604022 moved/removed -604023 moved/removed -604024 gene 8884 SLC5A6 ENSG00000138074 -604025 gene 8313 AXIN2 ENSG00000168646 -604026 gene 9527 GOSR1 ENSG00000108587 -604027 gene 9570 GOSR2 ENSG00000108433 -604028 gene 9117 SEC22C ENSG00000093183 -604029 gene 9554 SEC22B ENSG00000265808 -604030 gene 5695 PSMB7 ENSG00000136930 -604031 gene 6319 SCD ENSG00000099194 -604032 gene 9451 EIF2AK3 ENSG00000172071 -604033 gene 2081 ERN1 ENSG00000178607 -604034 gene 10595 ERN2 ENSG00000134398 -604035 gene 1539 CYLC2 ENSG00000155833 -604036 gene 8900 CCNA1 ENSG00000133101 -604037 gene 5878 RAB5C ENSG00000108774 -604038 gene 8372 HYAL3 ENSG00000186792 -604039 gene 10724 OGA ENSG00000198408 -604040 gene 10111 RAD50 ENSG00000113522 -604041 gene 9526 MPDU1 ENSG00000129255 -604042 gene 8515 ITGA10 ENSG00000143127 -604043 gene 4751 NEK2 ENSG00000117650 -604044 gene 4752 NEK3 ENSG00000136098 -604045 gene 10419 PRMT5 ENSG00000100462 -604046 gene 9943 OXSR1 ENSG00000172939 -604047 gene 9390 SLC22A13 ENSG00000172940 -604048 gene 9389 SLC22A14 ENSG00000144671 -604049 gene 9942 XYLB ENSG00000093217 -604050 gene 9940 DLEC1 ENSG00000008226 -604051 gene 9941 EXOG ENSG00000157036 -604052 gene 9966 TNFSF15 ENSG00000181634 -604053 gene 10380 BPNT1 ENSG00000162813 -604054 gene 30 ACAA1 ENSG00000060971 -604055 gene 3422 IDI1 ENSG00000067064 -604056 gene 9956 HS3ST2 ENSG00000122254 -604057 gene 9955 HS3ST3A1 ENSG00000153976 -604058 gene 9953 HS3ST3B1 ENSG00000125430 -604059 gene 9951 HS3ST4 ENSG00000182601 -604060 phenotype 1713 -604061 gene 10801 SEPTIN9 ENSG00000184640 -604062 gene 10025 MED16 ENSG00000175221 -604063 gene 8516 ITGA8 ENSG00000077943 -604064 gene 468 ATF4 ENSG00000128272 -604065 gene 8913 CACNA1G ENSG00000006283 -604066 gene 10317 B3GALT5 ENSG00000183778 -604067 gene 8787 RGS9 ENSG00000108370 -604068 gene 7163 TPD52 ENSG00000076554 -604069 gene 7164 TPD52L1 ENSG00000111907 -604070 gene 1607 DGKB ENSG00000136267 -604071 gene 160851 DGKH ENSG00000102780 -604072 gene 9162 DGKI ENSG00000157680 -604073 gene 7690 ZNF131 ENSG00000172262 -604074 gene 7691 ZNF132 ENSG00000131849 -604075 gene 7692 ZNF133 ENSG00000125846 -604076 gene 7693 ZNF134 ENSG00000213762 -604077 gene 7694 ZNF135 ENSG00000176293 -604078 gene 7695 ZNF136 ENSG00000196646 -604079 gene 7696 ZNF137P -604080 gene 7697 ZNF138 ENSG00000197008 -604081 moved/removed -604082 gene 7699 ZNF140 ENSG00000196387 -604083 gene 7701 ZNF142 ENSG00000115568 -604084 gene 7709 ZBTB17 ENSG00000116809 -604085 gene 7710 ZNF154 ENSG00000179909 -604086 gene 7711 ZNF155 ENSG00000204920 -604087 gene 10858 CYP46A1 ENSG00000036530 -604088 gene 10842 PPP1R17 ENSG00000106341 -604089 gene 10870 HCST ENSG00000126264 -604090 gene 9231 DLG5 ENSG00000151208 -604091 phenotype -604092 gene 7272 TTK ENSG00000112742 -604093 phenotype -604094 gene 10459 MAD2L2 ENSG00000116670 -604095 gene 10913 EDAR ENSG00000135960 -604096 gene 2916 GRM6 ENSG00000113262 -604097 gene 10911 UTS2 ENSG00000049247 -604098 gene 10910 SUGT1 ENSG00000165416 -604099 gene 2912 GRM2 ENSG00000164082 -604100 gene 2914 GRM4 ENSG00000124493 -604101 gene 2917 GRM7 ENSG00000196277 -604102 gene 2915 GRM5 ENSG00000168959 -604103 gene 9499 MYOT ENSG00000120729 -604104 gene 9535 GMFG ENSG00000130755 -604105 gene 10388 SYCP2 ENSG00000196074 -604106 gene 9293 GPR52 ENSG00000203737 -604107 gene 9290 GPR55 ENSG00000135898 -604108 gene 9053 MAP7 ENSG00000135525 -604109 gene 10086 HHLA1 ENSG00000132297 -604110 gene 9289 ADGRG1 ENSG00000205336 -604111 gene 9196 KCNAB3 ENSG00000170049 -604112 gene 8796 SCEL ENSG00000136155 -604113 gene 10068 IL18BP ENSG00000137496 -604114 gene 5330 PLCB2 ENSG00000137841 -604115 gene 10984 KCNQ1OT1 ENSG00000269821 -604116 phenotype -604117 phenotype -604118 gene 8437 RASAL1 ENSG00000111344 -604119 gene 6560 SLC12A4 ENSG00000124067 -604120 moved/removed -604121 phenotype -604122 gene 9488 PIGB ENSG00000069943 -604123 gene 246243 RNASEH1 ENSG00000171865 -604124 gene 5932 RBBP8 ENSG00000101773 -604125 gene 6820 SULT2B1 ENSG00000088002 -604126 gene 6840 SVIL ENSG00000197321 -604127 gene 6913 TBX15 ENSG00000092607 -604128 gene 6920 TCEA3 ENSG00000204219 -604129 phenotype -604130 gene 8433 UTF1 ENSG00000171794 -604131 phenotype -604132 moved/removed -604133 moved/removed -604134 gene 11093 ADAMTS13 ENSG00000160323 -604135 gene 9603 NFE2L3 ENSG00000050344 -604136 gene 11009 IL24 ENSG00000162892 -604137 moved/removed -604138 gene 9052 GPRC5A ENSG00000013588 -604139 gene 3300 DNAJB2 ENSG00000135924 -604140 gene 11083 DIDO1 ENSG00000101191 -604141 gene 10565 ARFGEF1 ENSG00000066777 -604142 gene 7305 TYROBP ENSG00000011600 -604143 gene 9700 ESPL1 ENSG00000135476 -604144 gene 11136 SLC7A9 ENSG00000021488 -604145 phenotype -604146 gene 9066 SYT7 ENSG00000011347 -604147 gene 9232 PTTG1 ENSG00000164611 -604148 gene 9058 SLC13A2 ENSG00000007216 -604149 gene 8910 SGCE ENSG00000127990 -604150 gene 5439 POLR2J ENSG00000005075 -604151 gene 10477 UBE2E3 ENSG00000170035 -604152 gene 4947 OAZ2 ENSG00000180304 -604153 gene 10316 NMUR1 ENSG00000171596 -604154 phenotype -604155 gene 10314 LANCL1 ENSG00000115365 -604156 gene 6422 SFRP1 ENSG00000104332 -604157 gene 6423 SFRP2 ENSG00000145423 -604158 gene 6425 SFRP5 ENSG00000120057 -604159 gene 9152 SLC6A5 ENSG00000165970 -604160 gene 3696 ITGB8 ENSG00000105855 -604161 gene 84634 KISS1R ENSG00000116014 -604162 moved/removed -604163 gene 6122 RPL3 ENSG00000100316 -604164 gene 3175 ONECUT1 ENSG00000169856 -604165 gene 8402 SLC25A11 ENSG00000108528 -604166 gene 6129 RPL7 ENSG00000147604 -604167 gene 10664 CTCF ENSG00000102974 -604168 phenotype -604169 phenotype -604170 gene 5359 PLSCR1 ENSG00000188313 -604171 gene 10189 ALYREF ENSG00000183684 -604172 predominantly phenotypes -604173 phenotype -604174 gene 6138 RPL15 ENSG00000174748 -604175 gene 6135 RPL11 ENSG00000142676 -604176 gene 9021 SOCS3 ENSG00000184557 -604177 gene 6132 RPL8 ENSG00000161016 -604178 gene 6142 RPL18A ENSG00000105640 -604179 gene 6141 RPL18 ENSG00000063177 -604180 gene 6152 RPL24 ENSG00000114391 -604181 gene 6167 RPL37 ENSG00000145592 -604182 gene 6169 RPL38 ENSG00000172809 -604183 predominantly phenotypes -604184 gene 9543 IGDCC3 ENSG00000174498 -604185 phenotype 22811 -604186 gene 9547 CXCL14 ENSG00000145824 -604187 phenotype -604188 gene 8991 SELENBP1 ENSG00000143416 -604189 gene 3338 DNAJC4 ENSG00000110011 -604190 gene 6583 SLC22A4 ENSG00000197208 -604191 gene 10127 ZNF263 ENSG00000006194 -604192 moved/removed -604193 gene 11000 SLC27A3 ENSG00000143554 -604194 gene 10999 SLC27A4 ENSG00000167114 -604195 moved/removed -604196 gene 28965 SLC27A6 ENSG00000113396 -604197 gene 10588 MTHFS ENSG00000136371 -604198 gene 9230 RAB11B ENSG00000185236 -604199 gene 11021 RAB35 ENSG00000111737 -604200 gene 8778 SIGLEC5 ENSG00000268500 -604201 phenotype 53366 -604202 gene 9342 SNAP29 ENSG00000099940 -604203 gene 9482 STX8 ENSG00000170310 -604204 gene 55014 STX17 ENSG00000136874 -604205 gene 8904 CPNE1 ENSG00000214078 -604206 gene 221184 CPNE2 ENSG00000140848 -604207 gene 8895 CPNE3 ENSG00000085719 -604208 gene 131034 CPNE4 ENSG00000196353 -604209 gene 57699 CPNE5 ENSG00000124772 -604210 gene 23418 CRB1 ENSG00000134376 -604211 predominantly phenotypes -604212 gene 5073 PARN ENSG00000140694 -604213 phenotype -604214 gene 889 KRIT1 ENSG00000001631 -604215 gene 3622 ING2 ENSG00000168556 -604216 gene 10050 SLC17A4 ENSG00000146039 -604217 gene 10568 SLC34A2 ENSG00000157765 -604218 phenotype -604219 phenotype -604220 gene 10552 ARPC1A ENSG00000241685 -604221 gene 10097 ACTR2 ENSG00000138071 -604222 gene 10096 ACTR3 ENSG00000115091 -604223 gene 10095 ARPC1B ENSG00000130429 -604224 gene 10109 ARPC2 ENSG00000163466 -604225 gene 10094 ARPC3 ENSG00000111229 -604226 gene 10093 ARPC4 ENSG00000241553 -604227 gene 10092 ARPC5 ENSG00000162704 -604228 moved/removed -604229 phenotype -604230 gene 23536 ADAT1 ENSG00000065457 -604231 gene 10744 PTTG2 ENSG00000250254 -604232 phenotype -604233 phenotype -604234 gene 9358 ITGBL1 ENSG00000198542 -604235 gene 23428 SLC7A8 ENSG00000092068 -604236 moved/removed -604237 gene 9244 CRLF1 ENSG00000006016 -604238 gene 6615 SNAI1 ENSG00000124216 -604239 gene 8781 PSPHP1 -604240 gene 3196 TLX2 ENSG00000115297 -604241 gene 23607 CD2AP ENSG00000198087 -604242 gene 6049 RNF6 ENSG00000127870 -604243 moved/removed -604244 moved/removed -604245 moved/removed -604246 moved/removed -604247 moved/removed -604248 moved/removed -604249 gene 10313 RTN3 ENSG00000133318 -604250 phenotype -604251 gene 23523 CABIN1 ENSG00000099991 -604252 gene 23621 BACE1 ENSG00000186318 -604253 gene 1456 CSNK1G3 ENSG00000151292 -604254 phenotype 11192 -604255 gene 10660 LBX1 ENSG00000138136 -604256 gene 8553 BHLHE40 ENSG00000134107 -604257 predominantly phenotypes -604258 gene 10395 DLC1 ENSG00000164741 -604259 gene 10154 PLXNC1 ENSG00000136040 -604260 gene 6777 STAT5B ENSG00000173757 -604261 gene 9474 ATG5 ENSG00000057663 -604262 gene 9546 APBA3 ENSG00000011132 -604263 gene 23627 PRND ENSG00000171864 -604264 gene 1951 CELSR3 ENSG00000008300 -604265 gene 1952 CELSR2 ENSG00000143126 -604266 gene 1953 MEGF6 ENSG00000162591 -604267 gene 1954 MEGF8 ENSG00000105429 -604268 gene 1955 MEGF9 ENSG00000106780 -604269 gene 2196 FAT2 ENSG00000086570 -604270 gene 4038 LRP4 ENSG00000134569 -604271 phenotype -604272 gene 9997 SCO2 ENSG00000284194 -604273 phenotype -604274 gene 10748 KLRA1P -604275 gene 1501 CTNND2 ENSG00000169862 -604276 gene 8502 PKP4 ENSG00000144283 -604277 gene 6683 SPAST ENSG00000021574 -604278 phenotype -604279 gene 133746 JMY ENSG00000152409 -604280 gene 91584 PLXNA4 ENSG00000221866 -604281 gene 10926 DBF4 ENSG00000006634 -604282 gene 23129 PLXND1 ENSG00000004399 -604283 gene 10216 PRG4 ENSG00000116690 -604284 moved/removed -604285 gene 189 AGXT ENSG00000172482 -604286 phenotype -604287 predominantly phenotypes -604288 phenotype 23459 -604289 gene 25788 RAD54B ENSG00000197275 -604290 phenotype -604291 predominantly phenotypes -604292 phenotype -604293 gene 23654 PLXNB2 ENSG00000196576 -604294 gene 11023 VAX1 ENSG00000148704 -604295 gene 25806 VAX2 ENSG00000116035 -604296 gene 9380 GRHPR ENSG00000137106 -604297 gene 8867 SYNJ1 ENSG00000159082 -604298 gene 26228 STAP1 ENSG00000035720 -604299 gene 26060 APPL1 ENSG00000157500 -604300 gene 26061 HACL1 ENSG00000131373 -604301 predominantly phenotypes -604302 phenotype -604303 gene 10881 ACTL7A ENSG00000187003 -604304 gene 10880 ACTL7B ENSG00000148156 -604305 gene 3119 HLA-DQB1 ENSG00000179344 -604306 gene 23017 FAIM2 ENSG00000135472 -604307 phenotype -604308 phenotype -604309 gene 26266 SLC13A4 ENSG00000164707 -604310 gene 26258 BLOC1S6 ENSG00000104164 -604311 gene 5469 MED1 ENSG00000125686 -604312 gene 1471 CST3 ENSG00000101439 -604313 gene 2584 GALK1 ENSG00000108479 -604314 phenotype -604315 predominantly phenotypes -604316 phenotype 63870 -604317 phenotype -604318 gene 9569 GTF2IRD1 ENSG00000006704 -604319 gene 26277 TINF2 ENSG00000092330 -604320 phenotype -604321 phenotype -604322 gene 26503 SLC17A5 ENSG00000119899 -604323 gene 8714 ABCC3 ENSG00000108846 -604324 predominantly phenotypes -604325 gene 5521 PPP2R2B ENSG00000156475 -604326 phenotype -604327 gene 11285 B4GALT7 ENSG00000027847 -604328 gene 6749 SSRP1 ENSG00000149136 -604329 phenotype 50986 -604330 gene 10750 GRAP ENSG00000154016 -604331 gene 26512 INTS6 ENSG00000102786 -604332 gene 26511 CHIC2 ENSG00000109220 -604333 gene 9391 CIAO1 ENSG00000144021 -604334 gene 9098 USP6 ENSG00000129204 -604335 predominantly phenotypes -604336 gene 7179 TPTE ENSG00000274391 -604337 gene 9629 CLCA3P ENSG00000153923 -604338 moved/removed -604339 moved/removed -604340 moved/removed -604341 moved/removed -604342 moved/removed -604343 moved/removed -604344 gene 4121 MAN1A1 ENSG00000111885 -604345 gene 10905 MAN1A2 ENSG00000198162 -604346 gene 11253 MAN1B1 ENSG00000177239 -604347 gene 9406 ZRANB2 ENSG00000132485 -604348 phenotype -604349 gene 10319 LAMC3 ENSG00000050555 -604350 gene 9545 RAB3D ENSG00000105514 -604351 gene 5253 PHF2 ENSG00000197724 -604352 phenotype -604353 gene 26973 CHORDC1 ENSG00000110172 -604354 gene 26747 NUFIP1 ENSG00000083635 -604355 gene 26958 COPG2 ENSG00000158623 -604356 phenotype -604357 gene 10586 MAB21L2 ENSG00000181541 -604358 gene 10274 STAG1 ENSG00000118007 -604359 moved/removed -604360 phenotype -604361 moved/removed -604362 gene 4008 LMO7 ENSG00000136153 -604363 predominantly phenotypes -604364 phenotype -604365 gene 8842 PROM1 ENSG00000007062 -604366 gene 27019 DNAI1 ENSG00000122735 -604367 phenotype -604368 gene 10457 GPNMB ENSG00000136235 -604369 phenotype -604370 phenotype -604371 gene 11148 HHLA2 ENSG00000114455 -604372 gene 11147 HHLA3 ENSG00000197568 -604373 gene 11200 CHEK2 ENSG00000183765 -604374 gene 9633 TESMIN ENSG00000132749 -604375 gene 9146 HGS ENSG00000185359 -604376 gene 9019 MPZL1 ENSG00000197965 -604377 phenotype -604378 gene 8678 BECN1 ENSG00000126581 -604379 phenotype -604380 predominantly phenotypes -604381 predominantly phenotypes -604382 predominantly phenotypes -604383 gene 8328 GFI1B ENSG00000165702 -604384 gene 27032 ATP2C1 ENSG00000017260 -604385 gene 11280 SCN11A ENSG00000168356 -604386 gene 7227 TRPS1 ENSG00000104447 -604387 phenotype -604388 gene 2786 GNG4 ENSG00000168243 -604389 gene 2790 GNG10 ENSG00000242616 -604390 gene 2791 GNG11 ENSG00000127920 -604391 phenotype -604392 gene 23746 AIPL1 ENSG00000129221 -604393 phenotype -604394 gene 2768 GNA12 ENSG00000146535 -604395 gene 27030 MLH3 ENSG00000119684 -604396 gene 9869 SETDB1 ENSG00000143379 -604397 gene 9630 GNA14 ENSG00000156049 -604398 gene 4246 SCGB2A1 ENSG00000124939 -604399 gene 84152 PPP1R1B ENSG00000131771 -604400 phenotype -604401 phenotype 27038 -604402 gene 8869 ST3GAL5 ENSG00000115525 -604403 phenotype -604404 gene 10082 GPC6 ENSG00000183098 -604405 gene 946 SIGLEC6 ENSG00000105492 -604406 gene 10672 GNA13 ENSG00000120063 -604407 gene 3954 LETM1 ENSG00000168924 -604408 moved/removed -604409 gene 10691 GMEB1 ENSG00000162419 -604410 gene 27036 SIGLEC7 ENSG00000168995 -604411 gene 3619 INCENP ENSG00000149503 -604412 gene 27004 TCL6 -604413 moved/removed -604414 gene 5435 POLR2F ENSG00000100142 -604415 gene 26872 STEAP1 ENSG00000164647 -604416 phenotype -604417 gene 27125 AFF4 ENSG00000072364 -604418 gene 10804 GJB6 ENSG00000121742 -604419 gene 10721 POLQ ENSG00000051341 -604420 gene 3087 HHEX ENSG00000152804 -604421 gene 5082 PDCL ENSG00000136940 -604422 gene 5407 PNLIPRP1 ENSG00000187021 -604423 gene 5408 PNLIPRP2 ENSG00000266200 -604424 gene 10114 HIPK3 ENSG00000110422 -604425 gene 431707 LHX8 ENSG00000162624 -604426 gene 8529 CYP4F2 ENSG00000186115 -604427 gene 6336 SCN10A ENSG00000185313 -604428 moved/removed -604429 gene 5639 PRRG2 ENSG00000126460 -604430 gene 2788 GNG7 ENSG00000176533 -604431 phenotype -604432 phenotype -604433 gene 10008 KCNE3 ENSG00000175538 -604434 gene 11012 KLK11 ENSG00000167757 -604435 moved/removed -604436 gene 11212 PLPBP ENSG00000147471 -604437 gene 10991 SLC38A3 ENSG00000188338 -604438 gene 5650 KLK7 ENSG00000169035 -604439 gene 2549 GAB1 ENSG00000109458 -604440 gene 1149 CIDEA ENSG00000176194 -604441 gene 27141 CIDEB ENSG00000136305 -604442 moved/removed -604443 gene 23305 ACSL6 ENSG00000164398 -604444 gene 25805 BAMBI ENSG00000095739 -604445 gene 5275 SERPINB13 ENSG00000197641 -604446 gene 9317 PTER ENSG00000165983 -604447 gene 10681 GNB5 ENSG00000069966 -604448 gene 9595 CYTIP ENSG00000115165 -604449 gene 5717 PSMD11 ENSG00000108671 -604450 gene 5718 PSMD12 ENSG00000197170 -604451 predominantly phenotypes -604452 gene 5711 PSMD5 ENSG00000095261 -604453 gene 2494 NR5A2 ENSG00000116833 -604454 phenotype -604455 gene 1757 SARDH ENSG00000123453 -604456 gene 8519 IFITM1 ENSG00000185885 -604457 gene 3431 SP110 ENSG00000135899 -604458 moved/removed -604459 gene 11213 IRAK3 ENSG00000090376 -604460 gene 11124 FAF1 ENSG00000185104 -604461 gene 3259 HPV6AI1 -604462 gene 54910 SEMA4C ENSG00000168758 -604463 gene 11126 CD160 ENSG00000117281 -604464 gene 50618 ITSN2 ENSG00000198399 -604465 gene 6456 SH3GL2 ENSG00000107295 -604466 gene 4234 METTL1 ENSG00000037897 -604467 gene 23531 MMD ENSG00000108960 -604468 gene 9064 MAP3K6 ENSG00000142733 -604469 gene 10640 EXOC5 ENSG00000070367 -604470 gene 10421 CD2BP2 ENSG00000169217 -604471 gene 6512 SLC1A7 ENSG00000162383 -604472 gene 8741 TNFSF13 ENSG00000161955 -604473 gene 2911 GRM1 ENSG00000152822 -604474 predominantly phenotypes -604475 gene 57142 RTN4 ENSG00000115310 -604476 moved/removed -604477 gene 11335 CBX3 ENSG00000122565 -604478 gene 23468 CBX5 ENSG00000094916 -604479 gene 23411 SIRT1 ENSG00000096717 -604480 gene 22933 SIRT2 ENSG00000068903 -604481 gene 23410 SIRT3 ENSG00000142082 -604482 gene 23409 SIRT4 ENSG00000089163 -604483 gene 23408 SIRT5 ENSG00000124523 -604484 phenotype -604485 gene 10002 NR2E3 ENSG00000278570 -604486 gene 10105 PPIF ENSG00000108179 -604487 gene 340990 OTOG ENSG00000188162 -604488 gene 8557 TCAP ENSG00000173991 -604489 gene 23600 AMACR ENSG00000242110 -604490 gene 26278 SACS ENSG00000151835 -604491 gene 868 CBLB ENSG00000114423 -604492 gene 7416 VDAC1 ENSG00000213585 -604493 gene 2709 GJB5 ENSG00000189280 -604494 gene 8809 IL18R1 ENSG00000115604 -604495 gene 4793 NFKBIB ENSG00000104825 -604496 gene 28512 NKIRAS1 ENSG00000197885 -604497 gene 28511 NKIRAS2 ENSG00000168256 -604498 phenotype -604499 phenotype 28515 -604500 gene 9326 ZNHIT3 ENSG00000273611 -604501 gene 9325 TRIP4 ENSG00000103671 -604502 gene 9324 HMGN3 ENSG00000118418 -604503 gene 221037 JMJD1C ENSG00000171988 -604504 gene 9322 TRIP10 ENSG00000125733 -604505 gene 9321 TRIP11 ENSG00000100815 -604506 gene 9320 TRIP12 ENSG00000153827 -604507 gene 9319 TRIP13 ENSG00000071539 -604508 gene 9318 COPS2 ENSG00000166200 -604509 gene 8807 IL18RAP ENSG00000115607 -604510 gene 23553 HYAL4 ENSG00000106302 -604511 gene 10951 CBX1 ENSG00000108468 -604512 gene 8808 IL1RL2 ENSG00000115598 -604513 gene 8832 CD84 ENSG00000066294 -604514 gene 9047 SH2D2A ENSG00000027869 -604515 gene 29760 BLNK ENSG00000095585 -604516 gene 9398 CD101 ENSG00000134256 -604517 gene 10891 PPARGC1A ENSG00000109819 -604518 gene 9402 GRAP2 ENSG00000100351 -604519 phenotype 30829 -604520 gene 8740 TNFSF14 ENSG00000125735 -604521 gene 23498 HAAO ENSG00000162882 -604522 gene 1668 DEFA3 ENSG00000239839 -604523 gene 9620 CELSR1 ENSG00000075275 -604524 gene 4065 LY75 ENSG00000054219 -604525 gene 11255 HRH3 ENSG00000101180 -604526 gene 3420 IDH3B ENSG00000101365 -604527 gene 23416 KCNH3 ENSG00000135519 -604528 gene 23415 KCNH4 ENSG00000089558 -604529 gene 23440 OTP ENSG00000171540 -604530 gene 9437 NCR1 ENSG00000189430 -604531 gene 9436 NCR2 ENSG00000096264 -604532 gene 9033 PKD2L1 ENSG00000107593 -604533 gene 3669 ISG20 ENSG00000172183 -604534 gene 9308 CD83 ENSG00000112149 -604535 gene 3801 KIFC3 ENSG00000140859 -604536 phenotype -604537 phenotype -604538 gene 11004 KIF2C ENSG00000142945 -604539 gene 9509 ADAMTS2 ENSG00000087116 -604540 gene 8689 KRT36 ENSG00000126337 -604541 gene 8688 KRT37 ENSG00000108417 -604542 gene 8687 KRT38 ENSG00000171360 -604543 gene 8994 LIMD1 ENSG00000144791 -604544 gene 23395 LARS2 ENSG00000011376 -604545 gene 3841 KPNA5 ENSG00000196911 -604546 gene 4796 TONSL ENSG00000160949 -604547 phenotype 100917 -604548 gene 4794 NFKBIE ENSG00000146232 -604549 moved/removed -604550 gene 8562 DENR ENSG00000139726 -604551 gene 9023 CH25H ENSG00000138135 -604552 gene 3083 HGFAC ENSG00000109758 -604553 gene 3281 HSBP1 ENSG00000230989 -604554 gene 11077 HSF2BP ENSG00000160207 -604555 gene 1008 CDH10 ENSG00000040731 -604556 gene 9149 DYRK1B ENSG00000105204 -604557 gene 23090 ZNF423 ENSG00000102935 -604558 gene 29851 ICOS ENSG00000163600 -604559 phenotype -604560 moved/removed -604561 gene 11282 MGAT4B ENSG00000161013 -604562 gene 22985 ACIN1 ENSG00000100813 -604563 phenotype -604564 gene 4259 MGST3 ENSG00000143198 -604565 gene 29880 ALG5 ENSG00000120697 -604566 gene 29929 ALG6 ENSG00000088035 -604567 gene 8448 DOC2A ENSG00000149927 -604568 gene 8447 DOC2B ENSG00000272636 -604569 gene 26047 CNTNAP2 ENSG00000174469 -604570 gene 57619 SHROOM3 ENSG00000138771 -604571 phenotype -604572 gene 3337 DNAJB1 ENSG00000132002 -604573 gene 9556 ATP5MJ ENSG00000156411 -604574 gene 23732 FRRS1L ENSG00000260230 -604575 gene 741 ZNHIT2 ENSG00000174276 -604576 gene 11161 ERG28 ENSG00000133935 -604577 gene 11149 BVES ENSG00000112276 -604578 gene 9447 AIM2 ENSG00000163568 -604579 gene 8322 FZD4 ENSG00000174804 -604580 gene 10516 FBLN5 ENSG00000140092 -604581 gene 10939 AFG3L2 ENSG00000141385 -604582 gene 445815 PALM2AKAP2 ENSG00000157654 -604583 gene 9141 PDCD5 ENSG00000105185 -604584 gene 5157 PDGFRL ENSG00000104213 -604585 gene 6672 SP100 ENSG00000067066 -604586 gene 134957 STXBP5 ENSG00000164506 -604587 gene 10241 CALCOCO2 ENSG00000136436 -604588 gene 4750 NEK1 ENSG00000137601 -604589 gene 23774 BRD1 ENSG00000100425 -604590 gene 2213 FCGR2B ENSG00000072694 -604591 gene 5037 PEBP1 ENSG00000089220 -604592 gene 10312 TCIRG1 ENSG00000110719 -604593 gene 3800 KIF5C ENSG00000168280 -604594 gene 9419 CRIPT ENSG00000119878 -604595 phenotype 54501 -604596 gene 374286 FBXW10B ENSG00000241322 -604597 gene 23426 GRIP1 ENSG00000155974 -604598 gene 734 OSGIN2 ENSG00000164823 -604599 gene 10919 EHMT2 ENSG00000204371 -604600 gene 29850 TRPM5 ENSG00000070985 -604601 gene 9617 MTRF1 ENSG00000120662 -604602 gene 92399 MRRF ENSG00000148187 -604603 gene 26509 MYOF ENSG00000138119 -604604 gene 10463 SLC30A9 ENSG00000014824 -604605 gene 8997 KALRN ENSG00000160145 -604606 gene 29989 OBP2B ENSG00000171102 -604607 gene 10481 HOXB13 ENSG00000159184 -604608 moved/removed -604609 gene 10071 MUC12 ENSG00000205277 -604610 gene 641 BLM ENSG00000197299 -604611 gene 7486 WRN ENSG00000165392 -604612 gene 4821 NKX2-2 ENSG00000125820 -604613 gene 9096 TBX18 ENSG00000112837 -604614 gene 9095 TBX19 ENSG00000143178 -604615 gene 8320 EOMES ENSG00000163508 -604616 gene 10716 TBR1 ENSG00000136535 -604617 gene 10825 NEU3 ENSG00000162139 -604618 gene 4817 NIT1 ENSG00000158793 -604619 gene 9211 LGI1 ENSG00000108231 -604620 gene 8477 GPR65 ENSG00000140030 -604621 gene 4248 MGAT3 ENSG00000128268 -604622 moved/removed -604623 gene 11320 MGAT4A ENSG00000071073 -604624 gene 8988 HSPB3 ENSG00000169271 -604625 phenotype -604626 gene 10873 ME3 ENSG00000151376 -604627 gene 27190 IL17B ENSG00000127743 -604628 gene 27189 IL17C ENSG00000124391 -604629 gene 9313 MMP20 ENSG00000137674 -604630 gene 8431 NR0B2 ENSG00000131910 -604631 gene 10493 VAT1 ENSG00000108828 -604632 gene 55697 VAC14 ENSG00000103043 -604633 gene 30008 EFEMP2 ENSG00000172638 -604634 gene 8407 TAGLN2 ENSG00000158710 -604635 gene 11249 NXPH2 ENSG00000144227 -604636 gene 11248 NXPH3 ENSG00000182575 -604637 gene 11247 NXPH4 ENSG00000182379 -604638 gene 81 ACTN4 ENSG00000130402 -604639 gene 30010 NXPH1 ENSG00000122584 -604640 gene 30012 TLX3 ENSG00000164438 -604641 gene 9479 MAPK8IP1 ENSG00000121653 -604642 gene 56934 CA10 ENSG00000154975 -604643 gene 8620 NPFF ENSG00000139574 -604644 gene 770 CA11 ENSG00000063180 -604645 gene 27115 PDE7B ENSG00000171408 -604646 gene 10762 NUP50 ENSG00000093000 -604647 gene 50632 CALY ENSG00000130643 -604648 gene 347853 TBX10 ENSG00000167800 -604649 gene 6904 TBCD ENSG00000141556 -604650 gene 3437 IFIT3 ENSG00000119917 -604651 gene 151449 GDF7 ENSG00000143869 -604652 gene 83439 TCF7L1 ENSG00000152284 -604653 gene 30061 SLC40A1 ENSG00000138449 -604654 gene 9177 HTR3B ENSG00000149305 -604655 gene 9020 MAP3K14 ENSG00000006062 -604656 gene 752 FMNL1 ENSG00000184922 -604657 gene 9032 TM4SF5 ENSG00000142484 -604658 gene 7107 GPR137B ENSG00000077585 -604659 gene 30816 ERVW-1 ENSG00000242950 -604660 gene 30820 KCNIP1 ENSG00000182132 -604661 gene 30819 KCNIP2 ENSG00000120049 -604662 gene 30818 KCNIP3 ENSG00000115041 -604663 gene 7475 WNT6 ENSG00000115596 -604664 gene 10437 IFI30 ENSG00000216490 -604665 gene 8533 COPS3 ENSG00000141030 -604666 gene 9448 MAP4K4 ENSG00000071054 -604667 gene 8618 CADPS ENSG00000163618 -604668 gene 9422 ZNF264 ENSG00000083844 -604669 gene 27039 PKD2L2 ENSG00000078795 -604670 gene 10343 PKDREJ ENSG00000130943 -604671 gene 10899 JTB ENSG00000143543 -604672 gene 30835 CD209 ENSG00000090659 -604673 gene 10335 IRAG1 ENSG00000072952 -604674 gene 23493 HEY2 ENSG00000135547 -604675 gene 51450 PRRX2 ENSG00000167157 -604676 gene 10866 HCP5 ENSG00000206337 -604677 gene 10087 CERT1 ENSG00000113163 -604678 gene 9375 TM9SF2 ENSG00000125304 -604679 gene 26986 PABPC1 ENSG00000070756 -604680 gene 5042 PABPC3 ENSG00000151846 -604681 moved/removed -604682 gene 3682 ITGAE ENSG00000083457 -604683 gene 11127 KIF3A ENSG00000131437 -604684 gene 10962 MLLT11 ENSG00000213190 -604685 gene 3199 HOXA2 ENSG00000105996 -604686 gene 11214 AKAP13 ENSG00000170776 -604687 gene 5729 PTGDR ENSG00000168229 -604688 gene 9495 AKAP5 ENSG00000179841 -604689 gene 10566 AKAP3 ENSG00000111254 -604690 predominantly phenotypes -604691 gene 9472 AKAP6 ENSG00000151320 -604692 gene 10270 AKAP8 ENSG00000105127 -604693 gene 9465 AKAP7 ENSG00000118507 -604694 gene 11216 AKAP10 ENSG00000108599 -604695 gene 403 ARL3 ENSG00000138175 -604696 gene 11215 AKAP11 ENSG00000023516 -604697 gene 10344 CCL26 ENSG00000006606 -604698 gene 9590 AKAP12 ENSG00000131016 -604699 gene 10139 ARFRP1 ENSG00000101246 -604700 gene 10043 TOM1 ENSG00000100284 -604701 gene 10040 TOM1L1 ENSG00000141198 -604702 gene 10042 HMGXB4 ENSG00000100281 -604703 moved/removed -604704 gene 8412 BCAR3 ENSG00000137936 -604705 gene 10461 MERTK ENSG00000153208 -604706 moved/removed -604707 gene 57016 AKR1B10 ENSG00000198074 -604708 gene 10725 NFAT5 ENSG00000102908 -604709 gene 26230 TIAM2 ENSG00000146426 -604710 gene 8425 LTBP4 ENSG00000090006 -604711 gene 5412 UBL3 ENSG00000122042 -604712 gene 50484 RRM2B ENSG00000048392 -604713 gene 6320 CLEC11A ENSG00000105472 -604714 gene 7259 TSPYL1 ENSG00000189241 -604715 phenotype -604716 gene 10941 UGT2A1 ENSG00000173610 -604717 phenotype -604718 gene 8458 TTF2 ENSG00000116830 -604719 gene 8576 STK16 ENSG00000115661 -604720 gene 7036 TFR2 ENSG00000106327 -604721 gene 10045 SH2D3A ENSG00000125731 -604722 gene 10044 SH2D3C ENSG00000095370 -604723 gene 10102 TSFM ENSG00000123297 -604724 gene 10855 HPSE ENSG00000173083 -604725 gene 9099 USP2 ENSG00000036672 -604726 gene 9263 STK17A ENSG00000164543 -604727 gene 9262 STK17B ENSG00000081320 -604728 gene 9960 USP3 ENSG00000140455 -604729 gene 27005 USP21 ENSG00000143258 -604730 gene 7289 TULP3 ENSG00000078246 -604731 gene 9958 USP15 ENSG00000135655 -604732 gene 22797 TFEC ENSG00000105967 -604733 gene 10352 WARS2 ENSG00000116874 -604734 gene 9948 WDR1 ENSG00000071127 -604735 gene 10600 USP16 ENSG00000156256 -604736 gene 29761 USP25 ENSG00000155313 -604737 gene 10885 WDR3 ENSG00000065183 -604738 gene 10803 CCR9 ENSG00000173585 -604739 gene 9584 RBM39 ENSG00000131051 -604740 gene 27173 SLC39A1 ENSG00000143570 -604741 gene 6718 AKR1D1 ENSG00000122787 -604742 gene 9201 DCLK1 ENSG00000133083 -604743 gene 23576 DDAH1 ENSG00000153904 -604744 gene 23564 DDAH2 ENSG00000213722 -604745 gene 10732 TCFL5 ENSG00000101190 -604746 gene 10420 TESK2 ENSG00000070759 -604747 gene 8403 SOX14 ENSG00000168875 -604748 gene 9580 SOX13 ENSG00000143842 -604749 gene 9310 ZNF235 ENSG00000159917 -604750 gene 10780 ZNF234 ENSG00000263002 -604751 gene 10781 ZNF266 ENSG00000174652 -604752 gene 10308 ZNF267 ENSG00000185947 -604753 gene 10795 ZNF268 ENSG00000090612 -604754 predominantly phenotypes 10778 ZNF271P ENSG00000257267 -604755 gene 10794 ZNF460 ENSG00000197714 -604756 gene 10793 ZNF273 ENSG00000198039 -604757 phenotype -604758 gene 5971 RELB ENSG00000104856 -604759 gene 50511 SYCP3 ENSG00000139351 -604760 gene 7776 ZNF236 ENSG00000130856 -604761 gene 7763 ZFAND5 ENSG00000107372 -604762 gene 23075 SWAP70 ENSG00000133789 -604763 gene 23365 ARHGEF12 ENSG00000196914 -604764 gene 11244 ZHX1 ENSG00000165156 -604765 phenotype -604766 gene 7827 NPHS2 ENSG00000116218 -604767 gene 50514 DELEC1 ENSG00000173077 -604768 gene 9534 ZNF254 ENSG00000213096 -604769 gene 10935 PRDX3 ENSG00000165672 -604770 gene 10449 ACAA2 ENSG00000167315 -604771 predominantly phenotypes -604772 phenotype -604773 gene 27034 ACAD8 ENSG00000151498 -604774 gene 27329 ANGPTL3 ENSG00000132855 -604775 gene 8989 TRPA1 ENSG00000104321 -604776 gene 3127 HLA-DRB5 ENSG00000198502 -604777 phenotype -604778 gene 11086 ADAM29 ENSG00000168594 -604779 gene 11085 ADAM30 ENSG00000134249 -604780 gene 51099 ABHD5 ENSG00000011198 -604781 moved/removed -604782 gene 9070 ASH2L ENSG00000129691 -604783 gene 1209 CLPTM1 ENSG00000104853 -604784 gene 6919 TCEA2 ENSG00000171703 -604785 gene 8727 CTNNAL1 ENSG00000119326 -604786 gene 10124 ARL4A ENSG00000122644 -604787 gene 10123 ARL4C ENSG00000188042 -604788 gene 10856 RUVBL2 ENSG00000183207 -604789 gene 22801 ITGA11 ENSG00000137809 -604790 gene 50840 TAS2R14 ENSG00000212127 -604791 gene 50839 TAS2R10 ENSG00000121318 -604792 gene 50838 TAS2R13 ENSG00000212128 -604793 gene 50837 TAS2R7 ENSG00000121377 -604794 gene 50836 TAS2R8 ENSG00000121314 -604795 gene 50835 TAS2R9 ENSG00000121381 -604796 gene 50834 TAS2R1 ENSG00000169777 -604797 gene 10930 APOBEC2 ENSG00000124701 -604798 gene 9456 HOMER1 ENSG00000152413 -604799 gene 9455 HOMER2 ENSG00000103942 -604800 gene 9454 HOMER3 ENSG00000051128 -604801 phenotype 53368 -604802 phenotype 53369 -604803 gene 9980 DOP1B ENSG00000142197 -604804 phenotype -604805 phenotype -604806 gene 23769 FLRT1 ENSG00000126500 -604807 gene 23768 FLRT2 ENSG00000185070 -604808 gene 23767 FLRT3 ENSG00000125848 -604809 phenotype -604810 gene 11024 LILRA1 ENSG00000104974 -604811 gene 10859 LILRB1 ENSG00000104972 -604812 gene 11027 LILRA2 ENSG00000239998 -604813 gene 10063 COX17 ENSG00000138495 -604814 gene 10990 LILRB5 ENSG00000105609 -604815 gene 10288 LILRB2 ENSG00000131042 -604816 moved/removed -604817 gene 23563 CHST5 ENSG00000135702 -604818 gene 11026 LILRA3 -604819 gene 22827 PUF60 ENSG00000179950 -604820 gene 11025 LILRB3 ENSG00000204577 -604821 gene 11006 LILRB4 ENSG00000186818 -604822 gene 11131 CAPN11 ENSG00000137225 -604823 gene 8538 BARX2 ENSG00000043039 -604824 gene 9365 KL ENSG00000133116 -604825 gene 9638 FEZ1 ENSG00000149557 -604826 gene 9637 FEZ2 ENSG00000171055 -604827 phenotype 50715 -604828 gene 6846 XCL2 ENSG00000143185 -604829 gene 10281 DSCR4 ENSG00000184029 -604830 predominantly phenotypes -604831 gene 2121 EVC ENSG00000072840 -604832 gene 23632 CA14 ENSG00000118298 -604833 gene 10850 CCL27 ENSG00000213927 -604834 gene 29110 TBK1 ENSG00000183735 -604835 gene 11266 DUSP12 ENSG00000081721 -604836 gene 1233 CCR4 ENSG00000183813 -604837 gene 11251 PTGDR2 ENSG00000183134 -604838 gene 11250 GPR45 ENSG00000135973 -604839 gene 8468 FKBP6 ENSG00000077800 -604840 gene 23770 FKBP8 ENSG00000105701 -604841 phenotype -604842 gene 6581 SLC22A3 ENSG00000146477 -604843 gene 10599 SLCO1B1 ENSG00000134538 -604844 gene 9653 HS2ST1 ENSG00000153936 -604845 gene 50652 PCA3 ENSG00000225937 -604846 gene 9394 HS6ST1 ENSG00000136720 -604847 gene 2849 GPR26 ENSG00000154478 -604848 moved/removed -604849 gene 9287 TAAR2 ENSG00000146378 -604850 gene 10987 COPS5 ENSG00000121022 -604851 gene 2926 GRSF1 ENSG00000132463 -604852 gene 6373 CXCL11 ENSG00000169248 -604853 gene 10573 MRPL28 ENSG00000086504 -604854 gene 11185 INMT ENSG00000241644 -604855 predominantly phenotypes -604856 predominantly phenotypes -604857 gene 6729 SRP54 ENSG00000100883 -604858 gene 6730 SRP68 ENSG00000167881 -604859 gene 29995 LMCD1 ENSG00000071282 -604860 gene 10892 MALT1 ENSG00000172175 -604861 gene 26524 LATS2 ENSG00000150457 -604862 gene 50489 CD207 ENSG00000116031 -604863 gene 9227 LRAT ENSG00000121207 -604864 phenotype -604865 gene 8609 KLF7 ENSG00000118263 -604866 gene 5326 PLAGL2 ENSG00000126003 -604867 gene 50833 TAS2R16 ENSG00000128519 -604868 gene 50831 TAS2R3 ENSG00000127362 -604869 gene 50832 TAS2R4 ENSG00000127364 -604870 gene 8685 MARCO ENSG00000019169 -604871 gene 10893 MMP24 ENSG00000125966 -604872 gene 9159 PCSK7 ENSG00000160613 -604873 gene 10205 MPZL2 ENSG00000149573 -604874 gene 10219 KLRG1 ENSG00000139187 -604875 gene 4649 MYO9A ENSG00000066933 -604876 gene 10231 RCAN2 ENSG00000172348 -604877 gene 23764 MAFF ENSG00000185022 -604878 gene 9990 SLC12A6 ENSG00000140199 -604879 gene 10723 SLC12A7 ENSG00000113504 -604880 moved/removed -604881 gene 9501 RPH3AL ENSG00000181031 -604882 gene 50674 NEUROG3 ENSG00000122859 -604883 gene 2976 GTF3C2 ENSG00000115207 -604884 gene 10783 NEK6 ENSG00000119408 -604885 gene 10514 MYBBP1A ENSG00000132382 -604886 gene 10328 EMC8 ENSG00000131148 -604887 gene 10797 MTHFD2 ENSG00000065911 -604888 gene 9330 GTF3C3 ENSG00000119041 -604889 gene 26960 NBEA ENSG00000172915 -604890 gene 9328 GTF3C5 ENSG00000148308 -604891 gene 10787 NCKAP1 ENSG00000061676 -604892 gene 9329 GTF3C4 ENSG00000125484 -604893 gene 100271873 AIRN ENSG00000268257 -604894 gene 9480 ONECUT2 ENSG00000119547 -604895 gene 30009 TBX21 ENSG00000073861 -604896 gene 8195 MKKS ENSG00000125863 -604897 gene 5201 PFDN1 ENSG00000113068 -604898 gene 5203 PFDN4 ENSG00000101132 -604899 gene 5204 PFDN5 ENSG00000123349 -604900 gene 8694 DGAT1 ENSG00000185000 -604901 phenotype -604902 gene 2972 BRF1 ENSG00000185024 -604903 gene 9015 TAF1A ENSG00000143498 -604904 gene 9014 TAF1B ENSG00000115750 -604905 gene 9013 TAF1C ENSG00000103168 -604906 phenotype -604907 gene 23495 TNFRSF13B ENSG00000240505 -604908 gene 9989 PPP4R1 ENSG00000154845 -604909 gene 4848 CNOT2 ENSG00000111596 -604910 gene 4849 CNOT3 ENSG00000088038 -604911 gene 4850 CNOT4 ENSG00000080802 -604912 gene 6873 TAF2 ENSG00000064313 -604913 gene 29883 CNOT7 ENSG00000198791 -604914 gene 23210 JMJD6 ENSG00000070495 -604915 gene 9175 MAP3K13 ENSG00000073803 -604916 predominantly phenotypes -604917 gene 23019 CNOT1 ENSG00000125107 -604918 gene 27445 PCLO ENSG00000186472 -604919 predominantly phenotypes -604920 moved/removed -604921 gene 8491 MAP4K3 ENSG00000011566 -604922 predominantly phenotypes -604923 gene 11183 MAP4K5 ENSG00000012983 -604924 gene 51808 PHAX ENSG00000164902 -604925 gene 10567 RABAC1 ENSG00000105404 -604926 moved/removed -604927 gene 9150 CTDP1 ENSG00000060069 -604928 phenotype -604929 moved/removed -604930 gene 8440 NCK2 ENSG00000071051 -604931 phenotype -604932 gene 11142 PKIG ENSG00000168734 -604933 gene 4595 MUTYH ENSG00000132781 -604934 gene 6905 TBCE ENSG00000284770 -604935 gene 10655 DMRT2 ENSG00000173253 -604936 gene 3802 KIR2DL1 ENSG00000125498 -604937 gene 3803 KIR2DL2 -604938 gene 3804 KIR2DL3 ENSG00000243772 -604939 gene 22925 PLA2R1 ENSG00000153246 -604940 moved/removed -604941 gene 5520 PPP2R2A ENSG00000221914 -604942 gene 9751 SNPH ENSG00000101298 -604943 gene 375611 SLC26A5 ENSG00000170615 -604944 gene 5523 PPP2R3A ENSG00000073711 -604945 gene 3805 KIR2DL4 ENSG00000189013 -604946 gene 3811 KIR3DL1 ENSG00000167633 -604947 gene 3812 KIR3DL2 ENSG00000240403 -604948 gene 4616 GADD45B ENSG00000099860 -604949 gene 10912 GADD45G ENSG00000130222 -604950 gene 10745 PHTF1 ENSG00000116793 -604951 gene 25796 PGLS ENSG00000130313 -604952 gene 3806 KIR2DS1 -604953 gene 100132285 KIR2DS2 -604954 gene 3808 KIR2DS3 -604955 gene 3809 KIR2DS4 ENSG00000221957 -604956 gene 3810 KIR2DS5 -604957 moved/removed -604958 gene 86 ACTL6A ENSG00000136518 -604959 gene 5366 PMAIP1 ENSG00000141682 -604960 gene 11252 PACSIN2 ENSG00000100266 -604961 gene 50940 PDE11A ENSG00000128655 -604962 gene 50852 TRAT1 ENSG00000163519 -604963 gene 8993 PGLYRP1 ENSG00000008438 -604964 gene 27240 SIT1 ENSG00000137078 -604965 gene 6789 STK4 ENSG00000101109 -604966 predominantly phenotypes 56117 PCDHA@ -604967 predominantly phenotypes 56116 PCDHB@ -604968 predominantly phenotypes 56115 PCDHG@ -604969 gene 8631 SKAP1 ENSG00000141293 -604970 gene 9212 AURKB ENSG00000178999 -604971 gene 4188 MDFI ENSG00000112559 -604972 gene 23595 ORC3 ENSG00000135336 -604973 gene 8547 FCN3 ENSG00000142748 -604974 gene 11166 SOX21 ENSG00000125285 -604975 gene 6660 SOX5 ENSG00000134532 -604976 gene 53632 PRKAG3 ENSG00000115592 -604977 gene 8859 STK19 ENSG00000204344 -604978 gene 11051 NUDT21 ENSG00000167005 -604979 gene 11052 CPSF6 ENSG00000111605 -604980 gene 29127 RACGAP1 ENSG00000161800 -604981 gene 11193 WBP4 ENSG00000120688 -604982 gene 3257 HPS1 ENSG00000107521 -604983 gene 11232 POLG2 ENSG00000256525 -604984 gene 8428 STK24 ENSG00000102572 -604985 gene 6712 SPTBN2 ENSG00000173898 -604986 gene 8315 BRAP ENSG00000089234 -604987 gene 23601 CLEC5A ENSG00000258227 -604988 gene 11309 SLCO2B1 ENSG00000137491 -604989 gene 10418 SPON1 ENSG00000262655 -604990 gene 9368 SLC9A3R1 ENSG00000109062 -604991 gene 25859 PART1 ENSG00000152931 -604992 gene 6345 SRL ENSG00000185739 -604993 gene 8559 PRPF18 ENSG00000165630 -604994 gene 10736 SIX2 ENSG00000170577 -604995 gene 10864 SLC22A7 ENSG00000137204 -604996 gene 5349 FXYD3 ENSG00000089356 -604997 gene 9046 DOK2 ENSG00000147443 -604998 gene 8536 CAMK1 ENSG00000134072 -604999 gene 50944 SHANK1 ENSG00000161681 -605000 gene 11151 CORO1A ENSG00000102879 -605001 gene 23452 ANGPTL2 ENSG00000136859 -605002 gene 10391 CORO2B ENSG00000103647 -605003 gene 26054 SENP6 ENSG00000112701 -605004 gene 2932 GSK3B ENSG00000082701 -605005 gene 51809 GALNT7 ENSG00000109586 -605006 gene 23401 FRAT2 ENSG00000181274 -605007 gene 11096 ADAMTS5 ENSG00000154736 -605008 gene 11174 ADAMTS6 ENSG00000049192 -605009 gene 11173 ADAMTS7 ENSG00000136378 -605010 gene 11005 SPINK5 ENSG00000133710 -605011 gene 9508 ADAMTS3 ENSG00000156140 -605012 gene 11198 SUPT16H ENSG00000092201 -605013 phenotype -605014 gene 8676 STX11 ENSG00000135604 -605015 gene 7761 ZNF214 ENSG00000149050 -605016 gene 7762 ZNF215 ENSG00000149054 -605017 gene 29802 VPREB3 ENSG00000128218 -605018 gene 1540 CYLD ENSG00000083799 -605019 phenotype -605020 gene 30813 VSX1 ENSG00000100987 -605021 phenotype -605022 gene 5062 PAK2 ENSG00000180370 -605023 gene 54363 HAO1 ENSG00000101323 -605024 gene 9498 SLC4A8 ENSG00000050438 -605025 gene 3675 ITGA3 ENSG00000005884 -605026 predominantly phenotypes -605027 phenotype -605028 predominantly phenotypes -605029 gene 51348 KLRF1 ENSG00000150045 -605030 gene 6788 STK3 ENSG00000104375 -605031 gene 10733 PLK4 ENSG00000142731 -605032 gene 10815 CPLX1 ENSG00000168993 -605033 gene 10814 CPLX2 ENSG00000145920 -605034 gene 100287932 TIMM23 ENSG00000265354 -605035 gene 8936 WASF1 ENSG00000112290 -605036 gene 51222 ZNF219 ENSG00000165804 -605037 gene 57576 KIF17 ENSG00000117245 -605038 gene 5379 PMS2P1 ENSG00000078319 -605039 phenotype -605040 predominantly phenotypes -605041 phenotype -605042 gene 9439 MED23 ENSG00000112282 -605043 gene 9441 MED26 ENSG00000105085 -605044 gene 9442 MED27 ENSG00000160563 -605045 gene 9443 MED7 ENSG00000155868 -605046 gene 29979 UBQLN1 ENSG00000135018 -605047 gene 3665 IRF7 ENSG00000185507 -605048 gene 9641 IKBKE ENSG00000263528 -605049 gene 57045 TWSG1 ENSG00000128791 -605050 moved/removed -605051 gene 1269 CNR2 ENSG00000188822 -605052 gene 6894 TARBP1 ENSG00000059588 -605053 gene 6895 TARBP2 ENSG00000139546 -605054 gene 10169 SERF2 ENSG00000140264 -605055 phenotype -605056 gene 8976 WASL ENSG00000106299 -605057 gene 10440 TIMM17A ENSG00000134375 -605058 gene 10469 TIMM44 ENSG00000104980 -605059 moved/removed -605060 gene 23729 SHPK ENSG00000197417 -605061 gene 54386 TERF2IP ENSG00000166848 -605062 gene 54429 TAS2R5 ENSG00000127366 -605063 gene 10963 STIP1 ENSG00000168439 -605064 gene 9493 KIF23 ENSG00000137807 -605065 gene 11140 CDC37 ENSG00000105401 -605066 gene 7531 YWHAE ENSG00000108953 -605067 predominantly phenotypes -605068 gene 10810 WASF3 ENSG00000132970 -605069 gene 2872 MKNK2 ENSG00000099875 -605070 gene 8411 EEA1 ENSG00000102189 -605071 gene 10287 RGS19 ENSG00000171700 -605072 gene 10755 GIPC1 ENSG00000123159 -605073 gene 4591 TRIM37 ENSG00000108395 -605074 phenotype -605075 moved/removed -605076 gene 6618 SNAPC2 ENSG00000104976 -605077 gene 55929 DMAP1 ENSG00000178028 -605078 gene 23435 TARDBP ENSG00000120948 -605079 gene 27164 SALL3 ENSG00000256463 -605080 gene 54714 CNGB3 ENSG00000170289 -605081 gene 9265 CYTH3 ENSG00000008256 -605082 gene 11186 RASSF1 ENSG00000068028 -605083 gene 2487 FRZB ENSG00000162998 -605084 gene 10367 MICU1 ENSG00000107745 -605085 gene 54210 TREM1 ENSG00000124731 -605086 gene 54209 TREM2 ENSG00000095970 -605087 gene 10026 PIGK ENSG00000142892 -605088 gene 9961 MVP ENSG00000013364 -605089 gene 64976 MRPL40 ENSG00000185608 -605090 gene 5918 RARRES1 ENSG00000118849 -605091 gene 221472 FGD2 ENSG00000146192 -605092 gene 5920 PLAAT4 ENSG00000133321 -605093 gene 10019 SH2B3 ENSG00000111252 -605094 gene 261729 STEAP2 ENSG00000157214 -605095 moved/removed -605096 gene 50636 ANO7 ENSG00000146205 -605097 gene 85414 SLC45A3 ENSG00000158715 -605098 moved/removed -605099 moved/removed -605100 gene 8493 PPM1D ENSG00000170836 -605101 gene 23118 TAB2 ENSG00000055208 -605102 gene 10747 MASP2 ENSG00000009724 -605103 gene 10874 NMU ENSG00000109255 -605104 gene 54715 RBFOX1 ENSG00000078328 -605105 predominantly phenotypes -605106 gene 23566 LPAR3 ENSG00000171517 -605107 gene 8721 EDF1 ENSG00000107223 -605108 gene 56923 NMUR2 ENSG00000132911 -605109 gene 8925 HERC1 ENSG00000103657 -605110 gene 9170 LPAR2 ENSG00000064547 -605111 gene 9294 S1PR2 ENSG00000267534 -605112 gene 29766 TMOD3 ENSG00000138594 -605113 gene 10157 AASS ENSG00000008311 -605114 gene 23626 SPO11 ENSG00000054796 -605115 phenotype -605116 gene 55584 CHRNA9 ENSG00000174343 -605117 gene 8835 SOCS2 ENSG00000120833 -605118 gene 9306 SOCS6 ENSG00000170677 -605119 gene 5496 PPM1G ENSG00000115241 -605120 gene 2658 GDF2 ENSG00000263761 -605121 gene 54700 RRN3 ENSG00000085721 -605122 gene 6832 SUPV3L1 ENSG00000156502 -605123 gene 6692 SPINT1 ENSG00000166145 -605124 gene 10653 SPINT2 ENSG00000167642 -605125 gene 11337 GABARAP ENSG00000170296 -605126 gene 9457 FHL5 ENSG00000112214 -605127 gene 26254 OPTC ENSG00000188770 -605128 gene 9626 GUCA1C ENSG00000138472 -605129 gene 10197 PSME3 ENSG00000131467 -605130 phenotype -605131 gene 51741 WWOX ENSG00000186153 -605132 gene 7091 TLE4 ENSG00000106829 -605133 gene 22916 NCBP2 ENSG00000114503 -605134 gene 26207 PITPNC1 ENSG00000154217 -605135 moved/removed -605136 moved/removed -605137 moved/removed -605138 gene 51686 OAZ3 ENSG00000143450 -605139 gene 10576 CCT2 ENSG00000166226 -605140 gene 10574 CCT7 ENSG00000135624 -605141 gene 7441 VPREB1 ENSG00000169575 -605142 gene 10575 CCT4 ENSG00000115484 -605143 gene 10121 ACTR1A ENSG00000138107 -605144 gene 10120 ACTR1B ENSG00000115073 -605145 gene 56172 ANKH ENSG00000154122 -605146 gene 53637 S1PR5 ENSG00000180739 -605147 gene 11061 CNMD ENSG00000136110 -605148 gene 11226 GALNT6 ENSG00000139629 -605149 gene 10563 CXCL13 ENSG00000156234 -605150 moved/removed -605151 moved/removed -605152 gene 25790 CFAP45 ENSG00000213085 -605153 gene 10267 RAMP1 ENSG00000132329 -605154 gene 10266 RAMP2 ENSG00000131477 -605155 gene 10268 RAMP3 ENSG00000122679 -605156 moved/removed -605157 gene 23574 -605158 gene 7837 PXDN ENSG00000130508 -605159 gene 84883 AIFM2 ENSG00000042286 -605160 gene 284124 ENSG00000276399 -605161 gene 149708 WFDC5 ENSG00000175121 -605162 gene 90480 GADD45GIP1 ENSG00000179271 -605163 gene 10663 CXCR6 ENSG00000172215 -605164 gene 3066 HDAC2 ENSG00000196591 -605165 gene 23598 PATZ1 ENSG00000100105 -605166 gene 8841 HDAC3 ENSG00000171720 -605167 gene 574 BAGE -605168 gene 2171 FABP5 ENSG00000164687 -605169 gene 2001 ELF5 ENSG00000135374 -605170 gene 9538 EI24 ENSG00000149547 -605171 gene 9540 TP53I3 ENSG00000115129 -605172 gene 9536 PTGES ENSG00000148344 -605173 gene 8507 ENC1 ENSG00000171617 -605174 gene 9510 ADAMTS1 ENSG00000154734 -605175 gene 11095 ADAMTS8 ENSG00000134917 -605176 gene 51179 HAO2 ENSG00000116882 -605177 moved/removed -605178 gene 2622 GAS8 ENSG00000141013 -605179 gene 750 GAS8-AS1 ENSG00000221819 -605180 gene 54407 SLC38A2 ENSG00000134294 -605181 gene 51768 TM7SF3 ENSG00000064115 -605182 gene 22821 RASA3 ENSG00000185989 -605183 gene 51806 CALML5 ENSG00000178372 -605184 gene 10605 PAIP1 ENSG00000172239 -605185 gene 54567 DLL4 ENSG00000128917 -605186 gene 11197 WIF1 ENSG00000156076 -605187 gene 2850 GPR27 ENSG00000170837 -605188 gene 54329 GPR85 ENSG00000164604 -605189 gene 22943 DKK1 ENSG00000107984 -605190 gene 23471 TRAM1 ENSG00000067167 -605191 gene 9044 BTAF1 ENSG00000095564 -605192 phenotype -605193 gene 9077 DIRAS3 ENSG00000162595 -605194 gene 55997 CFC1 ENSG00000136698 -605195 gene 145873 MESP2 ENSG00000188095 -605196 gene 51805 COQ3 ENSG00000132423 -605197 gene 8942 KYNU ENSG00000115919 -605198 gene 11044 TENT4A ENSG00000112941 -605199 gene 6421 SFPQ ENSG00000116560 -605200 gene 8916 HERC3 ENSG00000138641 -605201 phenotype 56801 -605202 gene 54187 NANS ENSG00000095380 -605203 moved/removed -605204 gene 1861 TOR1A ENSG00000136827 -605205 gene 55811 ADCY10 ENSG00000143199 -605206 gene 10021 HCN4 ENSG00000138622 -605207 gene 56603 CYP26B1 ENSG00000003137 -605208 gene 57030 SLC17A7 ENSG00000104888 -605209 gene 55743 CHFR ENSG00000072609 -605210 gene 27185 DISC1 ENSG00000162946 -605211 gene 56751 BARHL1 ENSG00000125492 -605212 gene 343472 BARHL2 ENSG00000143032 -605213 gene 5170 PDPK1 ENSG00000140992 -605214 gene 10242 KCNMB2 ENSG00000197584 -605215 gene 8935 SKAP2 ENSG00000005020 -605216 gene 50649 ARHGEF4 ENSG00000136002 -605217 gene 25759 SHC2 ENSG00000129946 -605218 phenotype -605219 gene 56616 DIABLO ENSG00000184047 -605220 gene 55911 APOBR ENSG00000184730 -605221 gene 10772 SRSF10 ENSG00000188529 -605222 gene 27094 KCNMB3 ENSG00000171121 -605223 gene 27345 KCNMB4 ENSG00000135643 -605224 gene 10692 RRH ENSG00000180245 -605225 phenotype 57042 -605226 gene 473 RERE ENSG00000142599 -605227 gene 8434 RECK ENSG00000122707 -605228 gene 9541 CIR1 ENSG00000138433 -605229 phenotype 57309 -605230 gene 7158 TP53BP1 ENSG00000067369 -605231 phenotype -605232 gene 65125 WNK1 ENSG00000060237 -605233 phenotype -605234 gene 57191 VN1R1 ENSG00000178201 -605235 gene 8996 NOL3 ENSG00000140939 -605236 gene 10699 CORIN ENSG00000145244 -605237 gene 9213 XPR1 ENSG00000143324 -605238 gene 3176 HNMT ENSG00000150540 -605239 gene 50617 ATP6V0A4 ENSG00000105929 -605240 gene 56477 CCL28 ENSG00000151882 -605241 gene 9450 LY86 ENSG00000112799 -605242 gene 10083 USH1C ENSG00000006611 -605243 gene 23643 LY96 ENSG00000154589 -605244 phenotype 1257 -605245 gene 29988 SLC2A8 ENSG00000136856 -605246 gene 719 C3AR1 ENSG00000171860 -605247 gene 55367 PIDD1 ENSG00000177595 -605248 gene 57192 MCOLN1 ENSG00000090674 -605249 moved/removed -605250 gene 10257 ABCC4 ENSG00000125257 -605251 gene 10057 ABCC5 ENSG00000114770 -605252 gene 11201 POLI ENSG00000101751 -605253 phenotype -605254 gene 23385 NCSTN ENSG00000162736 -605255 gene 51513 ETV7 ENSG00000010030 -605256 gene 56852 RAD18 ENSG00000070950 -605257 gene 57379 AICDA ENSG00000111732 -605258 phenotype -605259 phenotype -605260 moved/removed -605261 gene 50507 NOX4 ENSG00000086991 -605262 gene 10397 NDRG1 ENSG00000104419 -605263 gene 53358 SHC3 ENSG00000148082 -605264 gene 10580 SORBS1 ENSG00000095637 -605265 gene 57099 AVEN ENSG00000169857 -605266 gene 56704 JPH1 ENSG00000104369 -605267 gene 57158 JPH2 ENSG00000149596 -605268 gene 57338 JPH3 ENSG00000154118 -605269 gene 23603 CORO1C ENSG00000110880 -605270 gene 6448 SGSH ENSG00000181523 -605271 gene 51156 SERPINA10 ENSG00000140093 -605272 gene 57447 NDRG2 ENSG00000165795 -605273 gene 57446 NDRG3 ENSG00000101079 -605274 predominantly phenotypes -605275 phenotype -605276 gene 9625 AATK ENSG00000181409 -605277 gene 2909 ARHGAP35 ENSG00000160007 -605278 gene 8824 CES2 ENSG00000172831 -605279 gene 23491 CES3 ENSG00000172828 -605280 phenotype -605281 gene 54514 DDX4 ENSG00000152670 -605282 phenotype -605283 gene 54551 MAGEL2 ENSG00000254585 -605284 gene 7248 TSC1 ENSG00000165699 -605285 phenotype -605286 gene 11132 CAPN10 ENSG00000142330 -605287 gene 57140 RNPEPL1 ENSG00000142327 -605288 moved/removed -605289 phenotype -605290 gene 4976 OPA1 ENSG00000198836 -605291 moved/removed -605292 gene 56953 NT5M ENSG00000205309 -605293 phenotype 58156 -605294 gene 4166 CHST6 ENSG00000183196 -605295 gene 55137 FIGN ENSG00000182263 -605296 gene 8624 PSMG1 ENSG00000183527 -605297 gene 51497 NELFCD ENSG00000101158 -605298 gene 10311 VPS26C ENSG00000157538 -605299 gene 23054 NCOA6 ENSG00000198646 -605300 gene 10603 SH2B2 ENSG00000160999 -605301 gene 6867 TACC1 ENSG00000147526 -605302 gene 10579 TACC2 ENSG00000138162 -605303 gene 10460 TACC3 ENSG00000013810 -605304 gene 58157 NGB ENSG00000165553 -605305 gene 57292 KIR2DL5A -605306 gene 50856 CLEC4A ENSG00000111729 -605307 gene 11318 GPR182 ENSG00000166856 -605308 gene 23567 ZNF346 ENSG00000113761 -605309 phenotype -605310 gene 54535 CCHCR1 ENSG00000204536 -605311 moved/removed -605312 gene 9518 GDF15 ENSG00000130513 -605313 gene 9939 RBM8A ENSG00000265241 -605314 gene 9759 HDAC4 ENSG00000068024 -605315 gene 10014 HDAC5 ENSG00000108840 -605316 moved/removed -605317 gene 93986 FOXP2 ENSG00000128573 -605318 moved/removed -605319 gene 5209 PFKFB3 ENSG00000170525 -605320 gene 5210 PFKFB4 ENSG00000114268 -605321 predominantly phenotypes -605322 gene 58189 WFDC1 ENSG00000103175 -605323 gene 58190 CTDSP1 ENSG00000144579 -605324 gene 10513 APPBP2 ENSG00000062725 -605325 gene 1577 CYP3A5 ENSG00000106258 -605326 gene 8887 TAX1BP1 ENSG00000106052 -605327 gene 4783 NFIL3 ENSG00000165030 -605328 gene 51621 KLF13 ENSG00000169926 -605329 moved/removed -605330 gene 50616 IL22 ENSG00000127318 -605331 gene 23136 EPB41L3 ENSG00000082397 -605332 gene 57626 KLHL1 ENSG00000150361 -605333 gene 23047 PDS5B ENSG00000083642 -605334 moved/removed -605335 gene 22822 PHLDA1 ENSG00000139289 -605336 gene 10878 CFHR3 ENSG00000116785 -605337 gene 10877 CFHR4 ENSG00000134365 -605338 gene 9118 INA ENSG00000148798 -605339 gene 9513 FXR2 ENSG00000129245 -605340 gene 1551 CYP3A7 ENSG00000160870 -605341 gene 29992 PILRA ENSG00000085514 -605342 gene 29990 PILRB ENSG00000121716 -605343 gene 10272 FSTL3 ENSG00000070404 -605344 gene 4802 NFYC ENSG00000066136 -605345 gene 8846 ALKBH1 ENSG00000100601 -605346 moved/removed -605347 gene 23569 PADI4 ENSG00000159339 -605348 gene 23585 TMEM50A ENSG00000183726 -605349 gene 26502 NARF ENSG00000141562 -605350 gene 9466 IL27RA ENSG00000104998 -605351 gene 10875 FGL2 ENSG00000127951 -605352 gene 9258 MFHAS1 ENSG00000147324 -605353 gene 51738 GHRL ENSG00000157017 -605354 gene 59082 CARD18 ENSG00000255501 -605355 phenotype -605356 gene 7532 YWHAG ENSG00000170027 -605357 gene 11037 STON1 ENSG00000243244 -605358 gene 11036 GTF2A1L ENSG00000242441 -605359 gene 11272 PRR4 ENSG00000111215 -605360 gene 11007 CCDC85B ENSG00000175602 -605361 phenotype -605362 phenotype -605363 gene 2571 GAD1 ENSG00000128683 -605364 phenotype 63869 -605365 moved/removed -605366 gene 10439 OLFM1 ENSG00000130558 -605367 gene 60528 ELAC2 ENSG00000006744 -605368 gene 665 BNIP3L ENSG00000104765 -605369 gene 9407 TMPRSS11D ENSG00000153802 -605370 gene 23092 ARHGAP26 ENSG00000145819 -605371 gene 10564 ARFGEF2 ENSG00000124198 -605372 gene 220988 HNRNPA3 ENSG00000170144 -605373 phenotype -605374 gene 10408 MYCNOS ENSG00000233718 -605375 phenotype -605376 phenotype -605377 gene 1760 DMPK ENSG00000104936 -605378 gene 8086 AAAS ENSG00000094914 -605379 gene 8139 GAN ENSG00000261609 -605380 gene 8074 FGF23 ENSG00000118972 -605381 gene 51458 RHCG ENSG00000140519 -605382 moved/removed -605383 gene 50615 IL21R ENSG00000103522 -605384 gene 59067 IL21 ENSG00000138684 -605385 gene 9986 RCE1 ENSG00000173653 -605386 gene 406881 MIRLET7A1 ENSG00000199165 -605387 phenotype -605388 phenotype 60502 -605389 phenotype -605390 gene 9404 LPXN ENSG00000110031 -605391 gene 9562 MINPP1 ENSG00000107789 -605392 gene 11116 CEP43 ENSG00000213066 -605393 gene 10765 KDM5B ENSG00000117139 -605394 gene 60468 BACH2 ENSG00000112182 -605395 gene 11018 TMED1 ENSG00000099203 -605396 moved/removed -605397 gene 10666 CD226 ENSG00000150637 -605398 gene 58191 CXCL16 ENSG00000161921 -605399 gene 22795 NID2 ENSG00000087303 -605400 predominantly phenotypes -605401 gene 10788 IQGAP2 ENSG00000145703 -605402 gene 29126 CD274 ENSG00000120217 -605403 gene 10333 TLR6 ENSG00000174130 -605404 gene 666 BOK ENSG00000176720 -605405 gene 9712 USP6NL ENSG00000148429 -605406 gene 10972 TMED10 ENSG00000170348 -605407 phenotype -605408 moved/removed -605409 gene 10915 TCERG1 ENSG00000113649 -605410 gene 3751 KCND2 ENSG00000184408 -605411 gene 3752 KCND3 ENSG00000171385 -605412 gene 11159 RABL2A ENSG00000144134 -605413 gene 11158 RABL2B ENSG00000079974 -605414 gene 10347 ABCA7 ENSG00000064687 -605415 gene 27123 DKK2 ENSG00000155011 -605416 gene 27122 DKK3 ENSG00000050165 -605417 gene 27121 DKK4 ENSG00000104371 -605418 gene 27120 DKKL1 ENSG00000104901 -605419 phenotype 63944 -605420 gene 60529 ALX4 ENSG00000052850 -605421 gene 56999 ADAMTS9 ENSG00000163638 -605422 gene 59348 ZNF350 ENSG00000256683 -605423 gene 50846 DHH ENSG00000139549 -605424 gene 9794 MAML1 ENSG00000161021 -605425 gene 127534 GJB4 ENSG00000189433 -605426 gene 63970 TP53AIP1 ENSG00000120471 -605427 gene 59341 TRPV4 ENSG00000111199 -605428 phenotype -605429 phenotype -605430 gene 9043 SPAG9 ENSG00000008294 -605431 gene 23162 MAPK8IP3 ENSG00000138834 -605432 phenotype -605433 gene 63971 KIF13A ENSG00000137177 -605434 gene 63967 CLSPN ENSG00000092853 -605435 gene 5587 PRKD1 ENSG00000184304 -605436 gene 100033413 SNORD116-1 ENSG00000207063 -605437 gene 5583 PRKCH ENSG00000027075 -605438 gene 9228 DLGAP2 ENSG00000198010 -605439 gene 26298 EHF ENSG00000135373 -605440 gene 56893 UBQLN4 ENSG00000160803 -605441 gene 9370 ADIPOQ ENSG00000181092 -605442 gene 9589 WTAP ENSG00000146457 -605443 gene 64002 PCGEM1 ENSG00000227418 -605444 gene 27288 RBMXL2 ENSG00000170748 -605445 gene 9229 DLGAP1 ENSG00000170579 -605446 gene 57096 RPGRIP1 ENSG00000092200 -605447 gene 50854 SNHG32 ENSG00000204387 -605448 gene 10900 RUNDC3A ENSG00000108309 -605449 gene 2940 GSTA3 ENSG00000174156 -605450 gene 2941 GSTA4 ENSG00000170899 -605451 gene 10298 PAK4 ENSG00000130669 -605452 gene 10058 ABCB6 ENSG00000115657 -605453 gene 23457 ABCB9 ENSG00000150967 -605454 gene 23456 ABCB10 ENSG00000135776 -605455 gene 25837 RAB26 ENSG00000167964 -605456 gene 10282 BET1 ENSG00000105829 -605457 gene 58985 IL22RA1 ENSG00000142677 -605458 gene 55540 IL17RB ENSG00000056736 -605459 gene 64240 ABCG5 ENSG00000138075 -605460 gene 64241 ABCG8 ENSG00000143921 -605461 gene 23765 IL17RA ENSG00000177663 -605462 phenotype 100307118 -605463 predominantly phenotypes 64239 -605464 gene 11194 ABCB8 ENSG00000197150 -605465 gene 11179 ZNF277 ENSG00000198839 -605466 gene 55423 SIRPG ENSG00000089012 -605467 gene 10782 ZNF274 ENSG00000171606 -605468 gene 23580 CDC42EP4 ENSG00000179604 -605469 gene 23081 KDM4C ENSG00000107077 -605470 gene 56547 MMP26 ENSG00000167346 -605471 gene 53349 ZFYVE1 ENSG00000165861 -605472 phenotype -605473 gene 50613 UBQLN3 ENSG00000175520 -605474 gene 54106 TLR9 ENSG00000239732 -605475 gene 10458 BAIAP2 ENSG00000175866 -605476 gene 116986 AGAP2 ENSG00000135439 -605477 gene 8874 ARHGEF7 ENSG00000102606 -605478 gene 59307 SIGIRR ENSG00000185187 -605479 phenotype -605480 phenotype 64695 -605481 gene 259266 ASPM ENSG00000066279 -605482 gene 9446 GSTO1 ENSG00000148834 -605483 gene 64446 DNAI2 ENSG00000171595 -605484 gene 83953 FCAMR ENSG00000162897 -605485 gene 27072 VPS41 ENSG00000006715 -605486 moved/removed -605487 gene 10776 ARPP19 ENSG00000128989 -605488 gene 10777 ARPP21 ENSG00000172995 -605489 gene 28981 IFT81 ENSG00000122970 -605490 gene 9361 LONP1 ENSG00000196365 -605491 gene 10529 NEBL ENSG00000078114 -605492 gene 10446 LRRN2 ENSG00000170382 -605493 gene 10612 TRIM3 ENSG00000110171 -605494 gene 23421 ITGB3BP ENSG00000142856 -605495 gene 28234 SLCO1B3 ENSG00000111700 -605496 gene 11064 CNTRL ENSG00000119397 -605497 gene 10491 CRTAP ENSG00000170275 -605498 gene 9585 KIF20B ENSG00000138182 -605499 predominantly phenotypes -605500 gene 10200 MPHOSPH6 ENSG00000135698 -605501 gene 10198 MPHOSPH9 ENSG00000051825 -605502 gene 27000 DNAJC2 ENSG00000105821 -605503 gene 10199 MPHOSPH10 ENSG00000124383 -605504 gene 284366 KLK9 ENSG00000213022 -605505 gene 26085 KLK13 ENSG00000167759 -605506 gene 9559 VPS26A ENSG00000122958 -605507 gene 26525 IL36RN ENSG00000136695 -605508 gene 27177 IL36B ENSG00000136696 -605509 gene 27179 IL36A ENSG00000136694 -605510 gene 27178 IL37 ENSG00000125571 -605511 gene 64699 TMPRSS3 ENSG00000160183 -605512 gene 6785 ELOVL4 ENSG00000118402 -605513 gene 2315 MLANA ENSG00000120215 -605514 gene 65217 PCDH15 ENSG00000150275 -605515 gene 27086 FOXP1 ENSG00000114861 -605516 gene 64072 CDH23 ENSG00000107736 -605517 gene 11041 B4GAT1 ENSG00000174684 -605518 gene 23175 LPIN1 ENSG00000134324 -605519 gene 9663 LPIN2 ENSG00000101577 -605520 gene 64900 LPIN3 ENSG00000132793 -605521 gene 9519 TBPL1 ENSG00000028839 -605522 gene 64327 LMBR1 ENSG00000105983 -605523 gene 10140 TOB1 ENSG00000141232 -605524 moved/removed -605525 gene 81620 CDT1 ENSG00000167513 -605526 phenotype 64851 -605527 gene 27430 MAT2B ENSG00000038274 -605528 gene 4759 NEU2 ENSG00000115488 -605529 gene 26019 UPF2 ENSG00000151461 -605530 gene 65110 UPF3A ENSG00000169062 -605531 moved/removed -605532 gene 64750 SMURF2 ENSG00000108854 -605533 gene 10718 NRG3 ENSG00000185737 -605534 gene 10363 HMG20A ENSG00000140382 -605535 gene 10362 HMG20B ENSG00000064961 -605536 gene 26056 RAB11FIP5 ENSG00000135631 -605537 gene 22926 ATF6 ENSG00000118217 -605538 gene 23620 NTSR2 ENSG00000169006 -605539 gene 43849 KLK12 ENSG00000186474 -605540 gene 64282 TENT4B ENSG00000121274 -605541 gene 10451 VAV3 ENSG00000134215 -605542 gene 56300 IL36G ENSG00000136688 -605543 phenotype -605544 phenotype 64644 -605545 gene 9332 CD163 ENSG00000177575 -605546 gene 51206 GP6 ENSG00000088053 -605547 gene 11167 FSTL1 ENSG00000163430 -605548 gene 8751 ADAM15 ENSG00000143537 -605549 phenotype 54109 -605550 gene 51655 RASD1 ENSG00000108551 -605551 gene 9722 NOS1AP ENSG00000198929 -605552 phenotype 65076 -605553 gene 10914 PAPOLA ENSG00000090060 -605554 gene 51744 CD244 ENSG00000122223 -605555 gene 9049 AIP ENSG00000110711 -605556 gene 57282 SLC4A10 ENSG00000144290 -605557 gene 63976 PRDM16 ENSG00000142611 -605558 gene 26281 FGF20 ENSG00000078579 -605559 gene 3227 HOXC11 ENSG00000123388 -605560 gene 3226 HOXC10 ENSG00000180818 -605561 gene 11187 PKP3 ENSG00000184363 -605562 gene 4250 SCGB2A2 ENSG00000110484 -605563 gene 9478 CABP1 ENSG00000157782 -605564 gene 10518 CIB2 ENSG00000136425 -605565 gene 56729 RETN ENSG00000104918 -605566 gene 65078 RTN4R ENSG00000040608 -605567 gene 10572 SIVA1 ENSG00000184990 -605568 gene 57154 SMURF1 ENSG00000198742 -605569 gene 10888 GPR83 ENSG00000123901 -605570 gene 8766 RAB11A ENSG00000103769 -605571 gene 9271 PIWIL1 ENSG00000125207 -605572 phenotype 65077 -605573 gene 3293 HSD17B3 ENSG00000130948 -605574 gene 11065 UBE2C ENSG00000175063 -605575 gene 10051 SMC4 ENSG00000113810 -605576 gene 10592 SMC2 ENSG00000136824 -605577 gene 10235 RASGRP2 ENSG00000068831 -605578 gene 10581 IFITM2 ENSG00000185201 -605579 gene 10410 IFITM3 ENSG00000142089 -605580 gene 51561 IL23A ENSG00000110944 -605581 gene 10678 B3GNT2 ENSG00000170340 -605582 phenotype 65014 -605583 phenotype -605584 gene 9785 DHX38 ENSG00000140829 -605585 gene 51362 CDC40 ENSG00000168438 -605586 gene 10527 IPO7 ENSG00000205339 -605587 gene 5276 SERPINI2 ENSG00000114204 -605588 phenotype -605589 phenotype -605590 gene 23451 SF3B1 ENSG00000115524 -605591 gene 10992 SF3B2 ENSG00000087365 -605592 gene 23450 SF3B3 ENSG00000189091 -605593 gene 10262 SF3B4 ENSG00000143368 -605594 phenotype -605595 gene 10291 SF3A1 ENSG00000099995 -605596 gene 10946 SF3A3 ENSG00000183431 -605597 gene 668 FOXL2 ENSG00000183770 -605598 phenotype 57044 -605599 gene 10434 LYPLA1 ENSG00000120992 -605600 gene 10526 IPO8 ENSG00000133704 -605601 gene 5553 PRG2 ENSG00000186652 -605602 gene 51778 MYOZ2 ENSG00000172399 -605603 gene 58529 MYOZ1 ENSG00000177791 -605604 gene 51247 PAIP2 ENSG00000120727 -605605 moved/removed -605606 phenotype 65245 -605607 gene 64946 CENPH ENSG00000153044 -605608 gene 23562 CLDN14 ENSG00000159261 -605609 gene 55074 OXR1 ENSG00000164830 -605610 gene 11284 PNKP ENSG00000039650 -605611 gene 23677 SH3BP4 ENSG00000130147 -605612 gene 9467 SH3BP5 ENSG00000131370 -605613 gene 9026 HIP1R ENSG00000130787 -605614 gene 10985 GCN1 ENSG00000089154 -605615 gene 10425 ARIH2 ENSG00000177479 -605616 gene 54716 SLC6A20 ENSG00000163817 -605617 moved/removed -605618 predominantly phenotypes -605619 gene 50604 IL20 ENSG00000162891 -605620 gene 53832 IL20RA ENSG00000016402 -605621 gene 53833 IL20RB ENSG00000174564 -605622 gene 51294 PCDH12 ENSG00000113555 -605623 gene 4289 MKLN1 ENSG00000128585 -605624 gene 25820 ARIH1 ENSG00000166233 -605625 gene 26579 MYEOV ENSG00000172927 -605626 gene 64006 ERVK-6 -605627 phenotype -605628 gene 10553 HTATIP2 ENSG00000109854 -605629 gene 11113 CIT ENSG00000122966 -605630 gene 26279 PLA2G2D ENSG00000117215 -605631 gene 9476 NAPSA ENSG00000131400 -605632 gene 23443 SLC35A3 ENSG00000117620 -605633 gene 57876 MUC3B -605634 gene 10559 SLC35A1 ENSG00000164414 -605635 phenotype -605636 gene 55384 MEG3 ENSG00000214548 -605637 phenotype -605638 gene 57448 BIRC6 ENSG00000115760 -605639 gene 27181 SIGLEC8 ENSG00000105366 -605640 gene 27180 SIGLEC9 ENSG00000129450 -605641 gene 9057 SLC7A6 ENSG00000103064 -605642 phenotype 79052 -605643 gene 25818 KLK5 ENSG00000167754 -605644 gene 11202 KLK8 ENSG00000129455 -605645 gene 84666 RETNLB ENSG00000163515 -605646 gene 5172 SLC26A4 ENSG00000091137 -605647 gene 26270 FBXO6 ENSG00000116663 -605648 gene 25793 FBXO7 ENSG00000100225 -605649 gene 26269 FBXO8 ENSG00000164117 -605650 gene 51426 POLK ENSG00000122008 -605651 gene 23291 FBXW11 ENSG00000072803 -605652 gene 25827 FBXL2 ENSG00000153558 -605653 gene 26224 FBXL3 ENSG00000005812 -605654 gene 26235 FBXL4 ENSG00000112234 -605655 gene 26234 FBXL5 ENSG00000118564 -605656 gene 23194 FBXL7 ENSG00000183580 -605657 gene 22992 KDM2A ENSG00000173120 -605658 gene 64806 IL25 ENSG00000166090 -605659 gene 29121 CLEC2D ENSG00000069493 -605660 gene 10471 PFDN6 ENSG00000204220 -605661 gene 10206 TRIM13 ENSG00000204977 -605662 gene 9609 RAB36 ENSG00000100228 -605663 gene 27156 RSPH14 ENSG00000100218 -605664 gene 10112 KIF20A ENSG00000112984 -605665 moved/removed -605666 gene 57105 CYSLTR2 ENSG00000152207 -605667 gene 23179 RGL1 ENSG00000143344 -605668 gene 25825 BACE2 ENSG00000182240 -605669 gene 59351 PBOV1 ENSG00000254440 -605670 phenotype -605671 gene 1657 DMXL1 ENSG00000172869 -605672 predominantly phenotypes -605673 gene 54766 BTG4 ENSG00000137707 -605674 gene 10950 BTG3 ENSG00000154640 -605675 gene 9604 RNF14 ENSG00000013561 -605676 phenotype -605677 gene 51703 ACSL5 ENSG00000197142 -605678 gene 51085 MLXIPL ENSG00000009950 -605679 gene 55801 IL26 ENSG00000111536 -605680 gene 11177 BAZ1A ENSG00000198604 -605681 gene 9031 BAZ1B ENSG00000009954 -605682 gene 11176 BAZ2A ENSG00000076108 -605683 gene 29994 BAZ2B ENSG00000123636 -605684 gene 53840 TRIM34 ENSG00000258659 -605685 moved/removed -605686 gene 23705 CADM1 ENSG00000182985 -605687 gene 29949 IL19 ENSG00000142224 -605688 gene 9362 CPNE6 ENSG00000100884 -605689 gene 27132 CPNE7 ENSG00000178773 -605690 gene 29998 BICRA ENSG00000063169 -605691 gene 29997 NOP53 ENSG00000105373 -605692 gene 54822 TRPM7 ENSG00000092439 -605693 gene 27314 RAB30 ENSG00000137502 -605694 gene 11031 RAB31 ENSG00000168461 -605695 gene 55330 BLOC1S4 ENSG00000186222 -605696 gene 26251 KCNG2 ENSG00000178342 -605697 gene 80329 ULBP1 ENSG00000111981 -605698 gene 80328 ULBP2 ENSG00000131015 -605699 gene 79465 ULBP3 ENSG00000131019 -605700 gene 56658 TRIM39 ENSG00000204599 -605701 gene 10107 TRIM10 ENSG00000204613 -605702 gene 10894 LYVE1 ENSG00000133800 -605703 gene 9218 VAPA ENSG00000101558 -605704 gene 9217 VAPB ENSG00000124164 -605705 gene 150094 SIK1 ENSG00000142178 -605706 gene 54101 RIPK4 ENSG00000183421 -605707 moved/removed -605708 gene 9826 ARHGEF11 ENSG00000132694 -605709 gene 10550 ARL6IP5 ENSG00000144746 -605710 gene 2676 GFRA3 ENSG00000146013 -605711 phenotype -605712 gene 10558 SPTLC1 ENSG00000090054 -605713 gene 9517 SPTLC2 ENSG00000100596 -605714 phenotype -605715 gene 80381 CD276 ENSG00000103855 -605716 gene 27133 KCNH5 ENSG00000140015 -605717 gene 23308 ICOSLG ENSG00000160223 -605718 gene 29079 MED4 ENSG00000136146 -605719 gene 7462 LAT2 ENSG00000086730 -605720 gene 50801 KCNK4 ENSG00000182450 -605721 gene 50848 F11R ENSG00000158769 -605722 gene 3773 KCNJ16 ENSG00000153822 -605723 gene 80380 PDCD1LG2 ENSG00000197646 -605724 phenotype -605725 gene 57716 PRX ENSG00000105227 -605726 phenotype -605727 phenotype 93999 -605728 phenotype 80770 -605729 gene 80709 AKNA ENSG00000106948 -605730 gene 9576 SPAG6 ENSG00000077327 -605731 gene 26206 SPAG8 ENSG00000137098 -605732 gene 27242 TNFRSF21 ENSG00000146072 -605733 gene 27166 PRELID1 ENSG00000169230 -605734 gene 23671 TMEFF2 ENSG00000144339 -605735 phenotype -605736 gene 53347 UBASH3A ENSG00000160185 -605737 gene 79444 BIRC7 ENSG00000101197 -605738 phenotype 80771 -605739 gene 339855 KY ENSG00000174611 -605740 gene 50964 SOST ENSG00000167941 -605741 gene 1880 GPR183 ENSG00000169508 -605742 gene 51807 TUBA8 ENSG00000183785 -605743 gene 55733 HHAT ENSG00000054392 -605744 gene 2137 EXTL3 ENSG00000012232 -605745 gene 79901 CYBRD1 ENSG00000071967 -605746 phenotype 80871 -605747 gene 26119 LDLRAP1 ENSG00000157978 -605748 gene 53630 BCO1 ENSG00000135697 -605749 phenotype 81863 -605750 phenotype 81864 -605751 phenotype -605752 gene 283987 HID1 ENSG00000167861 -605753 gene 6691 SPINK2 ENSG00000128040 -605754 gene 9091 PIGQ ENSG00000007541 -605755 gene 51473 DCDC2 ENSG00000146038 -605756 predominantly phenotypes -605757 gene 53918 PELO ENSG00000152684 -605758 gene 51665 ASB1 ENSG00000065802 -605759 gene 51676 ASB2 ENSG00000100628 -605760 gene 51130 ASB3 ENSG00000115239 -605761 gene 51666 ASB4 ENSG00000005981 -605762 gene 5891 MOK ENSG00000080823 -605763 gene 50651 SLC45A1 ENSG00000162426 -605764 gene 51567 TDP2 ENSG00000111802 -605765 gene 10301 DLEU1 ENSG00000176124 -605766 gene 8847 DLEU2 ENSG00000231607 -605767 gene 55824 PAG1 ENSG00000076641 -605768 gene 27071 DAPP1 ENSG00000070190 -605769 gene 51592 TRIM33 ENSG00000197323 -605770 gene 10994 ILVBL ENSG00000105135 -605771 gene 9167 COX7A2L ENSG00000115944 -605772 gene 9166 EBAG9 ENSG00000147654 -605773 gene 56413 LTB4R2 ENSG00000213906 -605774 gene 11275 KLHL2 ENSG00000109466 -605775 gene 26249 KLHL3 ENSG00000146021 -605776 gene 2267 FGL1 ENSG00000104760 -605777 gene 55512 SMPD3 ENSG00000103056 -605778 gene 60491 NIF3L1 ENSG00000196290 -605779 phenotype 81866 -605780 gene 11108 PRDM4 ENSG00000110851 -605781 gene 29984 RHOD ENSG00000173156 -605782 gene 56648 EIF5A2 ENSG00000163577 -605783 gene 10286 BCAS2 ENSG00000116752 -605784 gene 57348 TTYH1 ENSG00000167614 -605785 gene 27175 TUBG2 ENSG00000037042 -605786 gene 27303 RBMS3 ENSG00000144642 -605787 gene 57763 ANKRA2 ENSG00000164331 -605788 gene 22924 MAPRE3 ENSG00000084764 -605789 gene 10982 MAPRE2 ENSG00000166974 -605790 gene 56164 STK31 ENSG00000196335 -605791 gene 56158 TEX12 ENSG00000150783 -605792 gene 56155 TEX14 ENSG00000121101 -605793 gene 56163 RNF17 ENSG00000132972 -605794 gene 54456 MOV10L1 ENSG00000073146 -605795 gene 56154 TEX15 ENSG00000133863 -605796 gene 56165 TDRD1 ENSG00000095627 -605797 gene 136991 ASZ1 ENSG00000154438 -605798 gene 56654 NPDC1 ENSG00000107281 -605799 gene 81693 AMN ENSG00000166126 -605800 gene 11100 HNRNPUL1 ENSG00000105323 -605801 gene 10928 RALBP1 ENSG00000017797 -605802 gene 9839 ZEB2 ENSG00000169554 -605803 phenotype -605804 phenotype 117187 -605805 phenotype -605806 gene 1005 CDH7 ENSG00000081138 -605807 gene 28316 CDH20 ENSG00000101542 -605808 predominantly phenotypes -605809 phenotype -605810 gene 56945 MRPS22 ENSG00000175110 -605811 gene 29107 NXT1 ENSG00000132661 -605812 gene 11269 DDX19B ENSG00000157349 -605813 gene 10204 NUTF2 ENSG00000102898 -605814 phenotype -605815 gene 23636 NUP62 ENSG00000213024 -605816 gene 10148 EBI3 ENSG00000105246 -605817 gene 11035 RIPK3 ENSG00000129465 -605818 phenotype 23713 -605819 gene 23481 PES1 ENSG00000100029 -605820 phenotype -605821 gene 51327 AHSP ENSG00000169877 -605822 phenotype -605823 gene 64091 POPDC2 ENSG00000121577 -605824 gene 64208 POPDC3 ENSG00000132429 -605825 gene 23593 HEBP2 ENSG00000051620 -605826 gene 50865 HEBP1 ENSG00000013583 -605827 phenotype -605828 gene 11322 TMC6 ENSG00000141524 -605829 gene 147138 TMC8 ENSG00000167895 -605830 gene 53834 FGFRL1 ENSG00000127418 -605831 gene 27006 FGF22 ENSG00000070388 -605832 gene 55902 ACSS2 ENSG00000131069 -605833 phenotype 338027 -605834 gene 29765 TMOD4 ENSG00000163157 -605835 gene 23670 CEMIP2 ENSG00000135048 -605836 gene 10497 UNC13B ENSG00000198722 -605837 gene 8924 HERC2 ENSG00000128731 -605838 predominantly phenotypes -605839 moved/removed -605840 gene 54778 RNF111 ENSG00000157450 -605841 phenotype 100918 -605842 gene 26608 TBL2 ENSG00000106638 -605843 gene 55825 PECR ENSG00000115425 -605844 phenotype 117188 -605845 phenotype 114477 -605846 gene 9275 BCL7B ENSG00000106635 -605847 gene 9274 BCL7C ENSG00000099385 -605848 gene 23581 CASP14 ENSG00000105141 -605849 gene 29958 DMGDH ENSG00000132837 -605850 phenotype -605851 gene 23463 ICMT ENSG00000116237 -605852 gene 23332 CLASP1 ENSG00000074054 -605853 gene 23122 CLASP2 ENSG00000163539 -605854 gene 27113 BBC3 ENSG00000105327 -605855 gene 57194 ATP10A ENSG00000206190 -605856 phenotype -605857 gene 23433 RHOQ ENSG00000119729 -605858 gene 83482 SCRT1 ENSG00000261678 -605859 gene 27033 ZBTB32 ENSG00000011590 -605860 gene 11123 RCAN3 ENSG00000117602 -605861 gene 10330 CNPY2 ENSG00000257727 -605862 gene 10329 RXYLT1 ENSG00000118600 -605863 gene 10331 B3GNT3 ENSG00000179913 -605864 gene 79369 B3GNT4 ENSG00000176383 -605865 gene 83756 TAS1R3 ENSG00000169962 -605866 gene 148229 ATP8B3 ENSG00000130270 -605867 gene 57198 ATP8B2 ENSG00000143515 -605868 gene 23250 ATP11A ENSG00000068650 -605869 gene 23200 ATP11B ENSG00000058063 -605870 gene 51761 ATP8A2 ENSG00000132932 -605871 moved/removed -605872 gene 10332 CLEC4M ENSG00000104938 -605873 gene 54207 KCNK10 ENSG00000100433 -605874 gene 51305 KCNK9 ENSG00000169427 -605875 gene 10163 WASF2 ENSG00000158195 -605876 gene 83417 FCRL4 ENSG00000163518 -605877 gene 83416 FCRL5 ENSG00000143297 -605878 gene 51341 ZBTB7A ENSG00000178951 -605879 gene 3781 KCNN2 ENSG00000080709 -605880 gene 23522 KAT6B ENSG00000156650 -605881 gene 55343 SLC35C1 ENSG00000181830 -605882 gene 83990 BRIP1 ENSG00000136492 -605883 gene 27074 LAMP3 ENSG00000078081 -605884 gene 196385 DNAH10 ENSG00000197653 -605885 gene 57556 SEMA6A ENSG00000092421 -605886 gene 1379 CR1L ENSG00000197721 -605887 moved/removed -605888 gene 10938 EHD1 ENSG00000110047 -605889 gene 27295 PDLIM3 ENSG00000154553 -605890 gene 30846 EHD2 ENSG00000024422 -605891 gene 30845 EHD3 ENSG00000013016 -605892 gene 30844 EHD4 ENSG00000103966 -605893 gene 10423 CDIPT ENSG00000103502 -605894 gene 23741 EID1 ENSG00000255302 -605895 gene 9470 EIF4E2 ENSG00000135930 -605896 gene 9427 ECEL1 ENSG00000171551 -605897 gene 56886 UGGT1 ENSG00000136731 -605898 gene 55757 UGGT2 ENSG00000102595 -605899 phenotype -605900 gene 9124 PDLIM1 ENSG00000107438 -605901 gene 114131 UCN3 ENSG00000178473 -605902 gene 90226 UCN2 ENSG00000145040 -605903 gene 9260 PDLIM7 ENSG00000196923 -605904 gene 10611 PDLIM5 ENSG00000163110 -605905 gene 54165 DCUN1D1 ENSG00000043093 -605906 gene 11155 LDB3 ENSG00000122367 -605907 gene 56052 ALG1 ENSG00000033011 -605908 gene 23209 MLC1 ENSG00000100427 -605909 phenotype -605910 gene 51129 ANGPTL4 ENSG00000167772 -605911 phenotype -605912 gene 56955 MEPE ENSG00000152595 -605913 phenotype 85504 -605914 gene 51330 TNFRSF12A ENSG00000006327 -605915 gene 10607 TBL3 ENSG00000183751 -605916 gene 51332 SPTBN5 ENSG00000137877 -605917 gene 22974 TPX2 ENSG00000088325 -605918 gene 10417 SPON2 ENSG00000159674 -605919 moved/removed -605920 gene 27067 STAU2 ENSG00000040341 -605921 gene 6786 STIM1 ENSG00000167323 -605922 gene 3613 IMPA2 ENSG00000141401 -605923 gene 30812 SOX8 ENSG00000005513 -605924 gene 10785 WDR4 ENSG00000160193 -605925 gene 5116 PCNT ENSG00000160299 -605926 gene 9463 PICK1 ENSG00000100151 -605927 gene 27085 MTBP ENSG00000172167 -605928 gene 27236 ARFIP1 ENSG00000164144 -605929 gene 6643 SNX2 ENSG00000205302 -605930 gene 8724 SNX3 ENSG00000112335 -605931 gene 8723 SNX4 ENSG00000114520 -605932 gene 23743 BHMT2 ENSG00000132840 -605933 gene 81501 DCSTAMP ENSG00000164935 -605934 phenotype 117190 -605935 predominantly phenotypes -605936 gene 51411 BIN2 ENSG00000110934 -605937 gene 27131 SNX5 ENSG00000089006 -605938 gene 51227 PIGP ENSG00000185808 -605939 gene 84812 PLCD4 ENSG00000115556 -605940 gene 10409 BASP1 ENSG00000176788 -605941 gene 9092 SART1 ENSG00000175467 -605942 gene 29940 DSE ENSG00000111817 -605943 gene 51573 GDE1 ENSG00000006007 -605944 predominantly phenotypes -605945 predominantly phenotypes -605946 phenotype -605947 gene 9487 PIGL ENSG00000108474 -605948 gene 51704 GPRC5B ENSG00000167191 -605949 gene 55890 GPRC5C ENSG00000170412 -605950 gene 83452 RAB33B ENSG00000172007 -605951 gene 54344 DPM3 ENSG00000179085 -605952 gene 51429 SNX9 ENSG00000130340 -605953 gene 50807 ASAP1 ENSG00000153317 -605954 gene 26998 FETUB ENSG00000090512 -605955 gene 84504 NKX6-2 ENSG00000148826 -605956 gene 64127 NOD2 ENSG00000167207 -605957 moved/removed -605958 gene 10293 TRAIP ENSG00000183763 -605959 predominantly phenotypes -605960 gene 5394 EXOSC10 ENSG00000171824 -605961 gene 5356 PLRG1 ENSG00000171566 -605962 gene 10244 RABEPK ENSG00000136933 -605963 gene 9784 SNX17 ENSG00000115234 -605964 gene 29907 SNX15 ENSG00000110025 -605965 gene 9610 RIN1 ENSG00000174791 -605966 gene 3174 HNF4G ENSG00000164749 -605967 phenotype 85505 -605968 gene 5988 RFPL1 ENSG00000128250 -605969 gene 10739 RFPL2 ENSG00000128253 -605970 gene 10738 RFPL3 ENSG00000128276 -605971 gene 10737 RFPL3S ENSG00000205853 -605972 gene 10740 RFPL1S -605973 gene 10238 DCAF7 ENSG00000136485 -605974 gene 10569 SLU7 ENSG00000164609 -605975 gene 10250 SRRM1 ENSG00000133226 -605976 gene 10773 ZBTB6 ENSG00000186130 -605977 gene 83943 IMMP2L ENSG00000184903 -605978 gene 23230 VPS13A ENSG00000197969 -605979 gene 10302 SNAPC5 ENSG00000174446 -605980 gene 10392 NOD1 ENSG00000106100 -605981 gene 197131 UBR1 ENSG00000159459 -605982 moved/removed -605983 gene 5518 PPP2R1A ENSG00000105568 -605984 gene 8726 EED ENSG00000074266 -605985 moved/removed -605986 gene 11171 STRAP ENSG00000023734 -605987 gene 10401 PIAS3 ENSG00000131788 -605988 gene 64421 DCLRE1C ENSG00000152457 -605989 gene 51588 PIAS4 ENSG00000105229 -605990 phenotype -605991 gene 25791 NGEF ENSG00000066248 -605992 gene 64211 LHX5 ENSG00000089116 -605993 gene 54704 PDP1 ENSG00000164951 -605994 gene 51302 CYP39A1 ENSG00000146233 -605995 gene 23095 KIF1B ENSG00000054523 -605996 gene 1797 DXO ENSG00000204348 -605997 gene 5522 PPP2R2C ENSG00000074211 -605998 gene 10456 HAX1 ENSG00000143575 -605999 gene 10462 CLEC10A ENSG00000132514 -606000 gene 56244 BTNL2 ENSG00000204290 -606001 gene 9235 IL32 ENSG00000008517 -606002 phenotype -606003 phenotype -606004 gene 26088 GGA1 ENSG00000100083 -606005 gene 23062 GGA2 ENSG00000103365 -606006 gene 23163 GGA3 ENSG00000125447 -606007 gene 51728 POLR3K ENSG00000161980 -606008 gene 4818 NKG7 ENSG00000105374 -606009 gene 100288687 DUX4 ENSG00000260596 -606010 gene 29959 NRBP1 ENSG00000115216 -606011 gene 23584 VSIG2 ENSG00000019102 -606012 phenotype 85507 -606013 gene 26271 FBXO5 ENSG00000112029 -606014 gene 257 ALX3 ENSG00000156150 -606015 gene 9214 FCMR ENSG00000162894 -606016 gene 9817 KEAP1 ENSG00000079999 -606017 gene 5433 POLR2D ENSG00000144231 -606018 gene 10085 EDIL3 ENSG00000164176 -606019 gene 11340 EXOSC8 ENSG00000120699 -606020 gene 11339 OIP5 ENSG00000104147 -606021 gene 23532 PRAME ENSG00000185686 -606022 gene 53343 NUDT9 ENSG00000170502 -606023 gene 5437 POLR2H ENSG00000163882 -606024 moved/removed -606025 gene 26137 ZBTB20 ENSG00000181722 -606026 gene 7469 NELFA ENSG00000185049 -606027 gene 29894 CPSF1 ENSG00000071894 -606028 gene 53981 CPSF2 ENSG00000165934 -606029 gene 51692 CPSF3 ENSG00000119203 -606030 gene 23644 EDC4 ENSG00000038358 -606031 gene 11180 WDR6 ENSG00000178252 -606032 gene 23524 SRRM2 ENSG00000167978 -606033 gene 5440 POLR2K ENSG00000147669 -606034 gene 10535 RNASEH2A ENSG00000104889 -606035 phenotype 619503 -606036 gene 9915 ARNT2 ENSG00000172379 -606037 gene 10225 CD96 ENSG00000153283 -606038 gene 58530 LY6G6D ENSG00000244355 -606039 gene 8843 HCAR3 ENSG00000255398 -606040 gene 49856 WRAP73 ENSG00000116213 -606041 gene 8404 SPARCL1 ENSG00000152583 -606042 gene 55892 MYNN ENSG00000085274 -606043 gene 55422 ZNF331 ENSG00000130844 -606044 gene 10534 ZNRD2 ENSG00000173465 -606045 gene 55764 IFT122 ENSG00000163913 -606046 gene 53407 STX18 ENSG00000168818 -606047 gene 353514 LILRA5 ENSG00000187116 -606048 gene 79143 MBOAT7 ENSG00000125505 -606049 phenotype 93956 -606050 gene 10537 UBD ENSG00000213886 -606051 gene 26297 SERGEF ENSG00000129158 -606052 moved/removed -606053 phenotype -606054 phenotype -606055 gene 58488 PCTP ENSG00000141179 -606056 phenotype -606057 gene 10411 RAPGEF3 ENSG00000079337 -606058 gene 11069 RAPGEF4 ENSG00000091428 -606059 gene 5569 PKIA ENSG00000171033 -606060 gene 56521 DNAJC12 ENSG00000108176 -606061 gene 57057 TBX20 ENSG00000164532 -606062 gene 9126 SMC3 ENSG00000108055 -606063 gene 9156 EXO1 ENSG00000174371 -606064 gene 57124 CD248 ENSG00000174807 -606065 gene 51554 ACKR4 ENSG00000129048 -606066 gene 56956 LHX9 ENSG00000143355 -606067 gene 56914 OTOR ENSG00000125879 -606068 phenotype -606069 phenotype -606070 phenotype -606071 phenotype -606072 phenotype -606073 gene 27158 NDOR1 ENSG00000188566 -606074 gene 26301 GBGT1 ENSG00000148288 -606075 gene 56652 TWNK ENSG00000107815 -606076 gene 8503 PIK3R3 ENSG00000117461 -606077 gene 64783 RBM15 ENSG00000162775 -606078 gene 57591 MRTFA ENSG00000196588 -606079 gene 283316 CD163L1 ENSG00000177675 -606080 gene 27159 CHIA ENSG00000134216 -606081 gene 9868 TOMM70 ENSG00000154174 -606082 phenotype 94337 -606083 gene 55193 PBRM1 ENSG00000163939 -606084 gene 11135 CDC42EP1 ENSG00000128283 -606085 gene 26136 TES ENSG00000135269 -606086 gene 9669 EIF5B ENSG00000158417 -606087 gene 23336 SYNM ENSG00000182253 -606088 gene 100137049 PLA2G4B ENSG00000243708 -606089 gene 618 BCYRN1 ENSG00000236824 -606090 gene 54677 CROT ENSG00000005469 -606091 gene 89790 SIGLEC10 ENSG00000142512 -606092 gene 85406 DNAJC14 ENSG00000135392 -606093 gene 9360 PPIG ENSG00000138398 -606094 gene 89858 SIGLEC12 ENSG00000254521 -606095 gene 10465 PPIH ENSG00000171960 -606096 gene 85329 LGALS12 ENSG00000133317 -606097 gene 23556 PIGN ENSG00000197563 -606098 gene 58533 SNX6 ENSG00000129515 -606099 gene 3964 LGALS8 ENSG00000116977 -606100 gene 30817 ADGRE2 ENSG00000127507 -606101 gene 84658 ADGRE3 ENSG00000131355 -606102 gene 23396 PIP5K1C ENSG00000186111 -606103 gene 27244 SESN1 ENSG00000080546 -606104 moved/removed -606105 gene 23446 SLC44A1 ENSG00000070214 -606106 gene 57153 SLC44A2 ENSG00000129353 -606107 gene 80736 SLC44A4 ENSG00000204385 -606108 gene 5494 PPM1A ENSG00000100614 -606109 gene 84955 NUDCD1 ENSG00000120526 -606110 gene 66004 LYNX1 ENSG00000180155 -606111 gene 84539 MCHR2 ENSG00000152034 -606112 gene 11102 RPP14 ENSG00000163684 -606113 gene 10248 POP7 ENSG00000172336 -606114 gene 10775 POP4 ENSG00000105171 -606115 gene 10556 RPP30 ENSG00000148688 -606116 gene 10557 RPP38 ENSG00000152464 -606117 gene 10799 RPP40 ENSG00000124787 -606118 gene 84343 HPS3 ENSG00000163755 -606119 gene 57152 SLURP1 ENSG00000126233 -606120 moved/removed -606121 gene 27297 CRCP ENSG00000241258 -606122 gene 55504 TNFRSF19 ENSG00000127863 -606123 gene 51127 TRIM17 ENSG00000162931 -606124 gene 57093 TRIM49 ENSG00000168930 -606125 gene 81603 TRIM8 ENSG00000171206 -606126 gene 79370 BCL2L14 ENSG00000121380 -606127 gene 93649 MYOCD ENSG00000141052 -606128 moved/removed -606129 phenotype 114086 -606130 gene 79102 RNF26 ENSG00000173456 -606131 gene 84676 TRIM63 ENSG00000158022 -606132 gene 10435 CDC42EP2 ENSG00000149798 -606133 gene 10602 CDC42EP3 ENSG00000163171 -606134 gene 51455 REV1 ENSG00000135945 -606135 gene 43847 KLK14 ENSG00000129437 -606136 gene 9462 RASAL2 ENSG00000075391 -606137 gene 10669 CGREF1 ENSG00000138028 -606138 gene 10668 CGRRF1 ENSG00000100532 -606139 gene 83855 KLF16 ENSG00000129911 -606140 gene 23039 XPO7 ENSG00000130227 -606141 gene 64901 RANBP17 ENSG00000204764 -606142 gene 56606 SLC2A9 ENSG00000109667 -606143 gene 7976 FZD3 ENSG00000104290 -606144 gene 51715 RAB23 ENSG00000112210 -606145 gene 81031 SLC2A10 ENSG00000197496 -606146 gene 8325 FZD8 ENSG00000177283 -606147 gene 11211 FZD10 ENSG00000111432 -606148 gene 3992 FADS1 ENSG00000149485 -606149 gene 9415 FADS2 ENSG00000134824 -606150 gene 3995 FADS3 ENSG00000221968 -606151 gene 583 BBS2 ENSG00000125124 -606152 gene 80704 SLC19A3 ENSG00000135917 -606153 gene 514 ATP5F1E ENSG00000124172 -606154 gene 94025 MUC16 ENSG00000181143 -606155 moved/removed -606156 predominantly phenotypes -606157 gene 80025 PANK2 ENSG00000125779 -606158 gene 26580 BSCL2 ENSG00000168000 -606159 phenotype -606160 gene 53354 PANK1 ENSG00000152782 -606161 gene 79646 PANK3 ENSG00000120137 -606162 gene 55229 PANK4 ENSG00000157881 -606163 moved/removed -606164 phenotype -606165 gene 66037 BOLL ENSG00000152430 -606166 moved/removed -606167 gene 29933 GPR132 ENSG00000183484 -606168 gene 11218 DDX20 ENSG00000064703 -606169 moved/removed -606170 phenotype -606171 gene 94017 TRS-TGA2-1 -606172 gene 23540 TRS-TGA4-1 -606173 gene 80273 GRPEL1 ENSG00000109519 -606174 predominantly phenotypes -606175 predominantly phenotypes -606176 phenotype -606177 predominantly phenotypes -606178 gene 64399 HHIP ENSG00000164161 -606179 predominantly phenotypes 114293 -606180 gene 5393 EXOSC9 ENSG00000123737 -606181 gene 57062 DDX24 ENSG00000089737 -606182 gene 8744 TNFSF9 ENSG00000125657 -606183 predominantly phenotypes -606184 gene 81792 ADAMTS12 ENSG00000151388 -606185 gene 94241 TP53INP1 ENSG00000164938 -606186 gene 27101 CACYBP ENSG00000116161 -606187 phenotype 114475 -606188 gene 10863 ADAM28 ENSG00000042980 -606189 gene 51232 CRIM1 ENSG00000150938 -606190 predominantly phenotypes 117192 -606191 gene 23048 FNBP1 ENSG00000187239 -606192 gene 10917 BTNL3 ENSG00000168903 -606193 gene 6561 SLC13A1 ENSG00000081800 -606194 gene 25984 KRT23 ENSG00000108244 -606195 gene 10265 IRX5 ENSG00000176842 -606196 gene 79190 IRX6 ENSG00000159387 -606197 gene 79192 IRX1 ENSG00000170549 -606198 gene 153572 IRX2 ENSG00000170561 -606199 gene 50805 IRX4 ENSG00000113430 -606200 gene 79365 BHLHE41 ENSG00000123095 -606201 gene 7466 WFS1 ENSG00000109501 -606202 gene 51151 SLC45A2 ENSG00000164175 -606203 gene 9846 GAB2 ENSG00000033327 -606204 gene 8581 LY6D ENSG00000167656 -606205 gene 6534 SLC6A7 ENSG00000011083 -606206 gene 84560 MT4 ENSG00000102891 -606207 gene 9154 SLC28A1 ENSG00000156222 -606208 gene 9153 SLC28A2 ENSG00000137860 -606209 gene 10652 YKT6 ENSG00000106636 -606210 gene 57190 SELENON ENSG00000162430 -606211 gene 51548 SIRT6 ENSG00000077463 -606212 gene 51547 SIRT7 ENSG00000187531 -606213 gene 6747 SSR3 ENSG00000114850 -606214 gene 57731 SPTBN4 ENSG00000160460 -606215 phenotype 7446 -606216 gene 51734 MSRB1 ENSG00000198736 -606217 phenotype -606218 gene 22928 SEPHS2 ENSG00000179918 -606219 gene 10131 TRAP1 ENSG00000126602 -606220 phenotype -606221 gene 22806 IKZF3 ENSG00000161405 -606222 gene 10261 IGSF6 ENSG00000140749 -606223 gene 5708 PSMD2 ENSG00000175166 -606224 gene 51251 NT5C3A ENSG00000122643 -606225 gene 80835 TAS1R1 ENSG00000173662 -606226 gene 80834 TAS1R2 ENSG00000179002 -606227 gene 83552 MFRP ENSG00000235718 -606228 gene 26523 AGO1 ENSG00000092847 -606229 gene 27161 AGO2 ENSG00000123908 -606230 gene 85358 SHANK3 ENSG00000251322 -606231 gene 55198 APPL2 ENSG00000136044 -606232 phenotype -606233 gene 84432 PROK1 ENSG00000143125 -606234 gene 22807 IKZF2 ENSG00000030419 -606235 gene 114112 TXNRD3 ENSG00000197763 -606236 gene 79058 ASPSCR1 ENSG00000169696 -606237 gene 9392 TGFBRAP1 ENSG00000135966 -606238 gene 64376 IKZF5 ENSG00000095574 -606239 gene 64375 IKZF4 ENSG00000123411 -606240 phenotype 114568 -606241 gene 23405 DICER1 ENSG00000100697 -606242 phenotype 100653373 -606243 phenotype -606244 gene 10254 STAM2 ENSG00000115145 -606245 gene 23512 SUZ12 ENSG00000178691 -606246 gene 221895 JAZF1 ENSG00000153814 -606247 gene 10617 STAMBP ENSG00000124356 -606248 gene 23475 QPRT ENSG00000103485 -606249 gene 65268 WNK2 ENSG00000165238 -606250 gene 26290 GALNT8 ENSG00000130035 -606251 gene 50614 GALNT9 ENSG00000182870 -606252 gene 114609 TIRAP ENSG00000150455 -606253 moved/removed -606254 gene 9403 SELENOF ENSG00000183291 -606255 phenotype -606256 phenotype 192143 -606257 phenotype 282549 -606258 phenotype 282550 -606259 gene 25855 BRMS1 ENSG00000174744 -606260 gene 66036 MTMR9 ENSG00000104643 -606261 gene 11162 NUDT6 ENSG00000170917 -606262 moved/removed -606263 phenotype 94003 -606264 gene 64581 CLEC7A ENSG00000172243 -606265 gene 57634 EP400 ENSG00000183495 -606266 gene 90427 BMF ENSG00000104081 -606267 gene 51384 WNT16 ENSG00000002745 -606268 gene 80326 WNT10A ENSG00000135925 -606269 gene 115650 TNFRSF13C ENSG00000159958 -606270 gene 81793 TLR10 ENSG00000174123 -606271 gene 27184 DISC2 -606272 gene 1497 CTNS ENSG00000040531 -606273 gene 8891 EIF2B3 ENSG00000070785 -606274 gene 53944 CSNK1G1 ENSG00000169118 -606275 moved/removed -606276 gene 55118 CRTAC1 ENSG00000095713 -606277 gene 54472 TOLLIP ENSG00000078902 -606278 gene 55294 FBXW7 ENSG00000109670 -606279 gene 25890 ABI3BP ENSG00000154175 -606280 gene 64151 NCAPG ENSG00000109805 -606281 gene 23682 RAB38 ENSG00000123892 -606282 phenotype 23723 -606283 gene 114815 SORCS1 ENSG00000108018 -606284 gene 57537 SORCS2 ENSG00000184985 -606285 gene 22986 SORCS3 ENSG00000156395 -606286 gene 55510 DDX43 ENSG00000080007 -606287 moved/removed -606288 gene 56114 PCDHGA1 ENSG00000204956 -606289 gene 56113 PCDHGA2 ENSG00000081853 -606290 gene 56112 PCDHGA3 ENSG00000254245 -606291 gene 56111 PCDHGA4 ENSG00000262576 -606292 gene 56110 PCDHGA5 ENSG00000253485 -606293 gene 56109 PCDHGA6 ENSG00000253731 -606294 gene 56108 PCDHGA7 ENSG00000253537 -606295 gene 9708 PCDHGA8 ENSG00000253767 -606296 gene 56107 PCDHGA9 ENSG00000261934 -606297 gene 56106 PCDHGA10 ENSG00000253846 -606298 gene 56105 PCDHGA11 ENSG00000253873 -606299 gene 56104 PCDHGB1 ENSG00000254221 -606300 gene 56103 PCDHGB2 ENSG00000253910 -606301 gene 56102 PCDHGB3 ENSG00000262209 -606302 gene 56101 PCDHGB5 ENSG00000276547 -606303 gene 56100 PCDHGB6 ENSG00000253305 -606304 gene 56099 PCDHGB7 ENSG00000254122 -606305 gene 56098 PCDHGC4 ENSG00000242419 -606306 gene 56097 PCDHGC5 ENSG00000240764 -606307 gene 56147 PCDHA1 ENSG00000204970 -606308 gene 56146 PCDHA2 ENSG00000204969 -606309 gene 56145 PCDHA3 ENSG00000255408 -606310 gene 56144 PCDHA4 ENSG00000204967 -606311 gene 56143 PCDHA5 ENSG00000204965 -606312 gene 56142 PCDHA6 ENSG00000081842 -606313 gene 56141 PCDHA7 ENSG00000204963 -606314 gene 56140 PCDHA8 ENSG00000204962 -606315 gene 9752 PCDHA9 ENSG00000204961 -606316 gene 56139 PCDHA10 ENSG00000250120 -606317 gene 56138 PCDHA11 ENSG00000249158 -606318 gene 56137 PCDHA12 ENSG00000251664 -606319 gene 56136 PCDHA13 ENSG00000239389 -606320 gene 56135 PCDHAC1 ENSG00000248383 -606321 gene 56134 PCDHAC2 ENSG00000243232 -606322 gene 23191 CYFIP1 ENSG00000273749 -606323 gene 26999 CYFIP2 ENSG00000055163 -606324 phenotype -606325 phenotype 116629 -606326 gene 4990 SIX6 ENSG00000184302 -606327 gene 29930 PCDHB1 ENSG00000171815 -606328 gene 56133 PCDHB2 ENSG00000112852 -606329 gene 56132 PCDHB3 ENSG00000113205 -606330 gene 56131 PCDHB4 ENSG00000081818 -606331 gene 26167 PCDHB5 ENSG00000113209 -606332 gene 56130 PCDHB6 ENSG00000113211 -606333 gene 56129 PCDHB7 ENSG00000113212 -606334 gene 56128 PCDHB8 ENSG00000120322 -606335 gene 56127 PCDHB9 ENSG00000177839 -606336 gene 56126 PCDHB10 ENSG00000120324 -606337 gene 56125 PCDHB11 ENSG00000197479 -606338 gene 56124 PCDHB12 ENSG00000120328 -606339 gene 56123 PCDHB13 ENSG00000187372 -606340 gene 56122 PCDHB14 ENSG00000120327 -606341 gene 56121 PCDHB15 ENSG00000113248 -606342 gene 51804 SIX4 ENSG00000100625 -606343 gene 27343 POLL ENSG00000166169 -606344 gene 27434 POLM ENSG00000122678 -606345 gene 57717 PCDHB16 ENSG00000272674 -606346 phenotype -606347 gene 9051 PSTPIP1 ENSG00000140368 -606348 phenotype 50941 -606349 predominantly phenotypes -606350 gene 54840 APTX ENSG00000137074 -606351 gene 83715 ESPN ENSG00000187017 -606352 gene 57679 ALS2 ENSG00000003393 -606353 phenotype -606354 moved/removed -606355 gene 8886 DDX18 ENSG00000088205 -606356 gene 114908 TMEM123 ENSG00000152558 -606357 gene 9188 DDX21 ENSG00000165732 -606358 gene 10551 AGR2 ENSG00000106541 -606359 gene 89780 WNT3A ENSG00000154342 -606360 gene 7478 WNT8A ENSG00000061492 -606361 gene 81029 WNT5B ENSG00000111186 -606362 gene 93650 ACP4 ENSG00000142513 -606363 gene 51225 ABI3 ENSG00000108798 -606364 moved/removed -606365 gene 27165 GLS2 ENSG00000135423 -606366 gene 58480 RHOU ENSG00000116574 -606367 phenotype -606368 gene 116519 APOA5 ENSG00000110243 -606369 predominantly phenotypes -606370 gene 27010 TPK1 ENSG00000196511 -606371 gene 11016 ATF7 ENSG00000170653 -606372 gene 57053 CHRNA10 ENSG00000129749 -606373 gene 56776 FMN2 ENSG00000155816 -606374 gene 26229 B3GAT3 ENSG00000149541 -606375 moved/removed -606376 gene 9486 CHST10 ENSG00000115526 -606377 gene 27294 DHDH ENSG00000104808 -606378 gene 27090 ST6GALNAC4 ENSG00000136840 -606379 gene 53836 GPR87 ENSG00000138271 -606380 gene 53829 P2RY13 ENSG00000181631 -606381 gene 56670 SUCNR1 ENSG00000198829 -606382 gene 9863 MAGI2 ENSG00000187391 -606383 gene 53831 GPR84 ENSG00000139572 -606384 gene 23327 NEDD4L ENSG00000049759 -606385 gene 116448 OLIG1 ENSG00000184221 -606386 gene 10215 OLIG2 ENSG00000205927 -606387 gene 116447 TOP1MT ENSG00000184428 -606388 gene 117145 THEM4 ENSG00000159445 -606389 gene 117144 CATSPER1 ENSG00000175294 -606390 moved/removed -606391 phenotype -606392 phenotype -606393 gene 27299 ADAMDEC1 ENSG00000134028 -606394 phenotype -606395 gene 10113 PREB ENSG00000138073 -606396 gene 55909 BIN3 ENSG00000147439 -606397 gene 7401 CLRN1 ENSG00000163646 -606398 gene 22809 ATF5 ENSG00000169136 -606399 gene 55799 CACNA2D3 ENSG00000157445 -606400 gene 23473 CAPN7 ENSG00000131375 -606401 gene 10753 CAPN9 ENSG00000135773 -606402 gene 56287 GKN1 ENSG00000169605 -606403 gene 10368 CACNG3 ENSG00000006116 -606404 gene 27092 CACNG4 ENSG00000075461 -606405 gene 27091 CACNG5 ENSG00000075429 -606406 gene 9284 NPIPA1 ENSG00000183426 -606407 phenotype -606408 phenotype -606409 gene 83737 ITCH ENSG00000078747 -606410 gene 84168 ANTXR1 ENSG00000169604 -606411 gene 64849 SLC13A3 ENSG00000158296 -606412 gene 7809 BSND ENSG00000162399 -606413 gene 10022 INSL5 ENSG00000172410 -606414 gene 11172 INSL6 ENSG00000120210 -606415 moved/removed -606416 gene 114548 NLRP3 ENSG00000162711 -606417 gene 55717 WDR11 ENSG00000120008 -606418 gene 1718 DHCR24 ENSG00000116133 -606419 gene 26121 PRPF31 ENSG00000105618 -606420 gene 9844 ELMO1 ENSG00000155849 -606421 gene 63916 ELMO2 ENSG00000062598 -606422 gene 79767 ELMO3 ENSG00000102890 -606423 gene 116093 DIRC1 -606424 gene 112398 EGLN2 ENSG00000269858 -606425 gene 54583 EGLN1 ENSG00000135766 -606426 gene 112399 EGLN3 ENSG00000129521 -606427 gene 162967 ZNF320 ENSG00000182986 -606428 gene 54659 UGT1A3 ENSG00000288702 -606429 gene 54657 UGT1A4 ENSG00000244474 -606430 gene 54579 UGT1A5 ENSG00000288705 -606431 gene 54578 UGT1A6 ENSG00000167165 -606432 gene 54577 UGT1A7 ENSG00000244122 -606433 gene 54576 UGT1A8 ENSG00000242366 -606434 gene 54600 UGT1A9 ENSG00000241119 -606435 gene 54575 UGT1A10 ENSG00000242515 -606436 gene 91683 SYT12 ENSG00000173227 -606437 moved/removed -606438 phenotype -606439 gene 51062 ATL1 ENSG00000198513 -606440 gene 161497 STRC ENSG00000242866 -606441 gene 27429 HTRA2 ENSG00000115317 -606442 gene 10152 ABI2 ENSG00000138443 -606443 gene 10488 CREB3 ENSG00000107175 -606444 gene 58487 CREBZF ENSG00000137504 -606445 predominantly phenotypes -606446 gene 114836 SLAMF6 ENSG00000162739 -606447 gene 10921 RNPS1 ENSG00000205937 -606448 gene 10587 TXNRD2 ENSG00000184470 -606449 gene 11156 PTP4A3 ENSG00000184489 -606450 gene 10276 NET1 ENSG00000173848 -606451 phenotype 23719 -606452 gene 64393 ZMAT3 ENSG00000172667 -606453 gene 987 LRBA ENSG00000198589 -606454 gene 8892 EIF2B2 ENSG00000119718 -606455 gene 23368 PPP1R13B ENSG00000088808 -606456 gene 10360 NPM3 ENSG00000107833 -606457 gene 25998 IBTK ENSG00000005700 -606458 gene 64651 CSRNP1 ENSG00000144655 -606459 gene 11054 OGFR ENSG00000060491 -606460 phenotype 100329168 -606461 gene 96764 TGS1 ENSG00000137574 -606462 gene 5885 RAD21 ENSG00000164754 -606463 gene 2629 GBA ENSG00000177628 -606464 gene 57817 HAMP ENSG00000105697 -606465 gene 28999 KLF15 ENSG00000163884 -606466 gene 84106 PRAM1 ENSG00000133246 -606467 gene 64577 ALDH8A1 ENSG00000118514 -606468 gene 54433 GAR1 ENSG00000109534 -606469 gene 84675 TRIM55 ENSG00000147573 -606470 gene 55651 NHP2 ENSG00000145912 -606471 gene 55505 NOP10 ENSG00000182117 -606472 gene 26039 SS18L1 ENSG00000184402 -606473 gene 51188 SS18L2 ENSG00000008324 -606474 gene 57159 TRIM54 ENSG00000138100 -606475 gene 51293 CD320 ENSG00000167775 -606476 gene 80271 ITPKC ENSG00000086544 -606477 gene 63826 SRR ENSG00000167720 -606478 gene 25913 POT1 ENSG00000128513 -606479 gene 57555 NLGN2 ENSG00000169992 -606480 gene 10269 ZMPSTE24 ENSG00000084073 -606481 gene 27124 INPP5J ENSG00000185133 -606482 phenotype -606483 phenotype -606484 gene 136319 MTPN ENSG00000105887 -606485 gene 81488 POLR2M ENSG00000255529 -606486 gene 57132 CHMP1B ENSG00000255112 -606487 gene 57110 PLAAT1 ENSG00000127252 -606488 gene 23016 EXOSC7 ENSG00000075914 -606489 gene 51010 EXOSC3 ENSG00000107371 -606490 gene 118460 EXOSC6 ENSG00000223496 -606491 gene 54512 EXOSC4 ENSG00000178896 -606492 gene 56915 EXOSC5 ENSG00000077348 -606493 gene 51013 EXOSC1 ENSG00000171311 -606494 gene 6487 ST3GAL3 ENSG00000126091 -606495 gene 57787 MARK4 ENSG00000007047 -606496 gene 112744 IL17F ENSG00000112116 -606497 gene 54490 UGT2B28 ENSG00000135226 -606498 gene 932 MS4A3 ENSG00000149516 -606499 gene 64232 MS4A5 ENSG00000166930 -606500 gene 92304 SCGB3A1 ENSG00000161055 -606501 gene 54545 MTMR12 ENSG00000150712 -606502 gene 58475 MS4A7 ENSG00000166927 -606503 gene 79723 SUV39H2 ENSG00000152455 -606504 gene 22794 CASC3 ENSG00000108349 -606505 gene 54984 PINX1 ENSG00000254093 -606506 moved/removed -606507 moved/removed -606508 gene 115350 FCRL1 ENSG00000163534 -606509 gene 79368 FCRL2 ENSG00000132704 -606510 gene 115352 FCRL3 ENSG00000160856 -606511 gene 4139 MARK1 ENSG00000116141 -606512 gene 29993 PACSIN1 ENSG00000124507 -606513 gene 29763 PACSIN3 ENSG00000165912 -606514 gene 27128 CYTH4 ENSG00000100055 -606515 gene 125050 RN7SK ENSG00000202198 -606516 gene 4154 MBNL1 ENSG00000152601 -606517 gene 57491 AHRR ENSG00000063438 -606518 gene 26762 HAVCR1 ENSG00000113249 -606519 predominantly phenotypes -606520 gene 80739 MPIG6B ENSG00000204420 -606521 gene 60386 SLC25A19 ENSG00000125454 -606522 gene 9573 GDF3 ENSG00000184344 -606523 gene 57522 SRGAP1 ENSG00000196935 -606524 gene 23380 SRGAP2 ENSG00000266028 -606525 gene 9901 SRGAP3 ENSG00000196220 -606526 gene 79083 MLPH ENSG00000115648 -606527 predominantly phenotypes -606528 phenotype -606529 predominantly phenotypes -606530 gene 1593 CYP27A1 ENSG00000135929 -606531 gene 117156 SCGB3A2 ENSG00000164265 -606532 gene 30811 HUNK ENSG00000142149 -606533 gene 9022 CLIC3 ENSG00000169583 -606534 gene 64816 CYP3A43 ENSG00000021461 -606535 gene 26292 MYCBP ENSG00000214114 -606536 gene 25932 CLIC4 ENSG00000169504 -606537 gene 4430 MYO1B ENSG00000128641 -606538 gene 4641 MYO1C ENSG00000197879 -606539 gene 4642 MYO1D ENSG00000176658 -606540 gene 4645 MYO5B ENSG00000167306 -606541 gene 4648 MYO7B ENSG00000169994 -606542 gene 51564 HDAC7 ENSG00000061273 -606543 gene 9734 HDAC9 ENSG00000048052 -606544 gene 84340 GFM2 ENSG00000164347 -606545 phenotype -606546 gene 57061 HYMAI ENSG00000283122 -606547 gene 51338 MS4A4A ENSG00000110079 -606548 gene 64231 MS4A6A ENSG00000110077 -606549 gene 83661 MS4A8 ENSG00000166959 -606550 gene 54860 MS4A12 ENSG00000071203 -606551 gene 11178 LZTS1 ENSG00000061337 -606552 phenotype -606553 gene 9351 SLC9A3R2 ENSG00000065054 -606554 phenotype 780905 -606555 gene 114088 TRIM9 ENSG00000100505 -606556 gene 9830 TRIM14 ENSG00000106785 -606557 gene 53335 BCL11A ENSG00000119866 -606558 gene 64919 BCL11B ENSG00000127152 -606559 gene 10346 TRIM22 ENSG00000132274 -606560 gene 10407 SPAG11B ENSG00000164871 -606561 gene 206358 SLC36A1 ENSG00000123643 -606562 gene 53346 TM6SF1 ENSG00000136404 -606563 gene 53345 TM6SF2 ENSG00000213996 -606564 gene 56937 PMEPA1 ENSG00000124225 -606565 gene 56649 TMPRSS4 ENSG00000137648 -606566 gene 85366 MYLK2 ENSG00000101306 -606567 gene 7104 TM4SF4 ENSG00000169903 -606568 gene 54585 LZTFL1 ENSG00000163818 -606569 gene 22908 SACM1L ENSG00000211456 -606570 gene 6424 SFRP4 ENSG00000106483 -606571 gene 753 LDLRAD4 ENSG00000168675 -606572 gene 79400 NOX5 ENSG00000255346 -606573 gene 2444 FRK ENSG00000111816 -606574 phenotype -606575 gene 58538 MPP4 ENSG00000082126 -606576 gene 83860 TAF3 ENSG00000165632 -606577 gene 84174 SLA2 ENSG00000101082 -606578 gene 89872 AQP10 ENSG00000143595 -606579 phenotype -606580 gene 80207 OPA3 ENSG00000125741 -606581 phenotype -606582 gene 28514 DLL1 ENSG00000198719 -606583 gene 25824 PRDX5 ENSG00000126432 -606584 gene 25930 PTPN23 ENSG00000076201 -606585 gene 10117 ENAM ENSG00000132464 -606586 gene 26064 RAI14 ENSG00000039560 -606587 gene 26469 PTPN18 ENSG00000072135 -606588 gene 29947 DNMT3L ENSG00000142182 -606589 gene 23161 SNX13 ENSG00000071189 -606590 gene 55666 NPLOC4 ENSG00000182446 -606591 gene 80198 MUS81 ENSG00000172732 -606592 gene 55350 VNN3P ENSG00000093134 -606593 phenotype -606594 gene 80854 SETD7 ENSG00000145391 -606595 phenotype -606596 gene 79147 FKRP ENSG00000181027 -606597 gene 5077 PAX3 ENSG00000135903 -606598 gene 54332 GDAP1 ENSG00000104381 -606599 gene 10628 TXNIP ENSG00000265972 -606600 gene 5923 RASGRF1 ENSG00000058335 -606601 gene 85314 ERVE-1 -606602 gene 79870 BAALC ENSG00000164929 -606603 gene 128178 EDARADD ENSG00000186197 -606604 gene 114907 FBXO32 ENSG00000156804 -606605 gene 84126 ATRIP ENSG00000164053 -606606 moved/removed -606607 gene 5688 PSMA7 ENSG00000101182 -606608 gene 10413 YAP1 ENSG00000137693 -606609 gene 11277 TREX1 ENSG00000213689 -606610 gene 55968 NSFL1C ENSG00000088833 -606611 gene 55894 DEFB103B ENSG00000177243 -606612 phenotype -606613 phenotype 192144 -606614 gene 5924 RASGRF2 ENSG00000113319 -606615 gene 55662 HIF1AN ENSG00000166135 -606616 phenotype 266691 -606617 moved/removed -606618 gene 11072 DUSP14 ENSG00000276023 -606619 gene 57733 GBA3 ENSG00000249948 -606620 gene 56833 SLAMF8 ENSG00000158714 -606621 gene 55081 IFT57 ENSG00000114446 -606622 gene 50485 SMARCAL1 ENSG00000138375 -606623 gene 8630 HSD17B6 ENSG00000025423 -606624 gene 63973 NEUROG2 ENSG00000178403 -606625 gene 57823 SLAMF7 ENSG00000026751 -606626 gene 23002 DAAM1 ENSG00000100592 -606627 gene 23500 DAAM2 ENSG00000146122 -606628 gene 27232 GNMT ENSG00000124713 -606629 gene 22999 RIMS1 ENSG00000079841 -606630 gene 9699 RIMS2 ENSG00000176406 -606631 phenotype -606632 predominantly phenotypes -606633 gene 121340 SP7 ENSG00000170374 -606634 gene 117159 DCD ENSG00000161634 -606635 gene 5651 TMPRSS15 ENSG00000154646 -606636 gene 22861 NLRP1 ENSG00000091592 -606637 gene 23615 PYY2 ENSG00000237575 -606638 gene 23614 PPY2P ENSG00000265060 -606639 gene 85476 GFM1 ENSG00000168827 -606640 phenotype 253 -606641 phenotype 170815 -606642 moved/removed -606643 phenotype 192149 -606644 gene 93185 IGSF8 ENSG00000162729 -606645 gene 116984 ARAP2 ENSG00000047365 -606646 gene 116985 ARAP1 ENSG00000186635 -606647 gene 64411 ARAP3 ENSG00000120318 -606648 gene 116379 IL22RA2 ENSG00000164485 -606649 gene 59269 HIVEP3 ENSG00000127124 -606650 gene 116443 GRIN3A ENSG00000198785 -606651 gene 116444 GRIN3B ENSG00000116032 -606652 gene 84868 HAVCR2 ENSG00000135077 -606653 gene 59352 LGR6 ENSG00000133067 -606654 gene 59350 RXFP1 ENSG00000171509 -606655 gene 122042 RXFP2 ENSG00000133105 -606656 moved/removed -606657 phenotype -606658 phenotype -606659 gene 26521 TIMM8B ENSG00000150779 -606660 phenotype 170592 -606661 phenotype 170593 -606662 phenotype 170594 -606663 gene 4017 LOXL2 ENSG00000134013 -606664 phenotype -606665 gene 94233 OPN4 ENSG00000122375 -606666 gene 55366 LGR4 ENSG00000205213 -606667 gene 8549 LGR5 ENSG00000139292 -606668 phenotype 170595 -606669 gene 53827 FXYD5 ENSG00000089327 -606670 gene 6992 PPP1R11 ENSG00000204619 -606671 gene 51517 NCKIPSD ENSG00000213672 -606672 gene 2811 GP1BA ENSG00000185245 -606673 gene 51733 UPB1 ENSG00000100024 -606674 phenotype 50942 -606675 phenotype 50608 -606676 gene 51393 TRPV2 ENSG00000187688 -606677 gene 170482 CLEC4C ENSG00000198178 -606678 gene 79054 TRPM8 ENSG00000144481 -606679 gene 56302 TRPV5 ENSG00000127412 -606680 gene 55503 TRPV6 ENSG00000165125 -606681 gene 64324 NSD1 ENSG00000165671 -606682 gene 89781 HPS4 ENSG00000100099 -606683 gene 53826 FXYD6 ENSG00000137726 -606684 gene 53822 FXYD7 ENSG00000221946 -606685 phenotype -606686 gene 1967 EIF2B1 ENSG00000111361 -606687 gene 8890 EIF2B4 ENSG00000115211 -606688 phenotype -606689 phenotype 2722 -606690 phenotype -606691 gene 56971 CEACAM19 ENSG00000186567 -606692 gene 84231 TRAF7 ENSG00000131653 -606693 phenotype -606694 gene 9631 NUP155 ENSG00000113569 -606695 gene 23596 OPN3 ENSG00000054277 -606696 gene 11104 KATNA1 ENSG00000186625 -606697 gene 10224 ZNF443 ENSG00000180855 -606698 gene 11063 SOX30 ENSG00000039600 -606699 gene 9931 HELZ ENSG00000198265 -606700 gene 90007 MIDN ENSG00000167470 -606701 gene 644168 DRGX ENSG00000165606 -606702 gene 5314 PKHD1 ENSG00000170927 -606703 phenotype -606704 gene 10936 GPR75 ENSG00000119737 -606705 phenotype -606706 gene 117531 TMC1 ENSG00000165091 -606707 gene 117532 TMC2 ENSG00000149488 -606708 phenotype 171157 -606709 gene 8492 PRSS12 ENSG00000164099 -606710 gene 10186 LHFPL6 ENSG00000183722 -606711 phenotype 171013 -606712 phenotype 171014 -606713 phenotype -606714 gene 10957 PNRC1 ENSG00000146278 -606715 gene 55515 ASIC4 ENSG00000072182 -606716 gene 9027 NAT8 ENSG00000144035 -606717 gene 54739 XAF1 ENSG00000132530 -606718 gene 1836 SLC26A2 ENSG00000155850 -606719 phenotype -606720 gene 8909 ENDOU ENSG00000111405 -606721 phenotype -606722 gene 83988 NCALD ENSG00000104490 -606723 gene 8550 MAPKAPK5 ENSG00000089022 -606724 gene 8569 MKNK1 ENSG00000079277 -606725 gene 54982 CLN6 ENSG00000128973 -606726 gene 57468 SLC12A5 ENSG00000124140 -606727 gene 159296 NKX2-3 ENSG00000119919 -606728 gene 8436 CAVIN2 ENSG00000168497 -606729 gene 23762 OSBP2 ENSG00000184792 -606730 gene 114876 OSBPL1A ENSG00000141447 -606731 gene 9885 OSBPL2 ENSG00000130703 -606732 gene 26031 OSBPL3 ENSG00000070882 -606733 gene 114879 OSBPL5 ENSG00000021762 -606734 gene 114880 OSBPL6 ENSG00000079156 -606735 gene 114881 OSBPL7 ENSG00000006025 -606736 gene 114882 OSBPL8 ENSG00000091039 -606737 gene 114883 OSBPL9 ENSG00000117859 -606738 gene 114884 OSBPL10 ENSG00000144645 -606739 gene 114885 OSBPL11 ENSG00000144909 -606740 gene 7733 ZNF180 ENSG00000167384 -606741 gene 339318 ZNF181 ENSG00000197841 -606742 gene 7092 TLL1 ENSG00000038295 -606743 gene 7093 TLL2 ENSG00000095587 -606744 phenotype -606745 gene 56288 PARD3 ENSG00000148498 -606746 gene 56005 MYDGF ENSG00000074842 -606747 gene 7716 VEZF1 ENSG00000136451 -606748 gene 23406 COTL1 ENSG00000103187 -606749 gene 27283 TINAG ENSG00000137251 -606750 gene 81030 ZBP1 ENSG00000124256 -606751 gene 80975 TMPRSS5 ENSG00000166682 -606752 predominantly phenotypes -606753 gene 7268 TTC4 ENSG00000243725 -606754 gene 25939 SAMHD1 ENSG00000101347 -606755 gene 51702 PADI3 ENSG00000142619 -606756 gene 51478 HSD17B7 ENSG00000132196 -606757 gene 57835 SLC4A5 ENSG00000188687 -606758 gene 53905 DUOX1 ENSG00000137857 -606759 gene 50506 DUOX2 ENSG00000140279 -606760 moved/removed -606761 gene 23417 MLYCD ENSG00000103150 -606762 phenotype -606763 phenotype -606764 phenotype -606765 gene 7173 TPO ENSG00000115705 -606766 phenotype -606767 gene 170850 KCNG3 ENSG00000171126 -606768 phenotype -606769 gene 113510 HELQ ENSG00000163312 -606770 phenotype 171511 -606771 phenotype 171512 -606772 phenotype -606773 predominantly phenotypes -606774 gene 55586 MIOX ENSG00000100253 -606775 gene 10675 CSPG5 ENSG00000114646 -606776 gene 116179 TGM7 ENSG00000159495 -606777 phenotype -606778 gene 54434 SSH1 ENSG00000084112 -606779 gene 85464 SSH2 ENSG00000141298 -606780 gene 54961 SSH3 ENSG00000172830 -606781 gene 7086 TKT ENSG00000163931 -606782 gene 51267 CLEC1A ENSG00000150048 -606783 gene 51266 CLEC1B ENSG00000165682 -606784 gene 2931 GSK3A ENSG00000105723 -606785 phenotype -606786 gene 10871 CD300C ENSG00000167850 -606787 phenotype 171513 -606788 phenotype 171514 -606789 phenotype 171515 -606790 gene 11314 CD300A ENSG00000167851 -606791 gene 93492 TPTE2 ENSG00000132958 -606792 gene 59340 HRH4 ENSG00000134489 -606793 gene 9520 NPEPPS ENSG00000141279 -606794 gene 1468 SLC25A10 ENSG00000183048 -606795 gene 10478 SLC25A17 ENSG00000100372 -606796 gene 6767 ST13 ENSG00000100380 -606797 gene 6768 ST14 ENSG00000149418 -606798 phenotype -606799 phenotype -606800 gene 2548 GAA ENSG00000171298 -606801 gene 10296 MAEA ENSG00000090316 -606802 gene 6689 SPIB ENSG00000269404 -606803 gene 26027 ACOT11 ENSG00000162390 -606804 gene 51280 GOLM1 ENSG00000135052 -606805 gene 27333 GOLIM4 ENSG00000173905 -606806 gene 10841 FTCD ENSG00000160282 -606807 gene 54756 IL17RD ENSG00000144730 -606808 gene 53904 MYO3A ENSG00000095777 -606809 gene 64746 ACBD3 ENSG00000182827 -606810 gene 5625 PRODH ENSG00000100033 -606811 gene 8659 ALDH4A1 ENSG00000159423 -606812 phenotype -606813 gene 11182 SLC2A6 ENSG00000160326 -606814 gene 10394 PRG3 ENSG00000156575 -606815 gene 163732 CITED4 ENSG00000179862 -606816 gene 54847 SIDT1 ENSG00000072858 -606817 gene 171558 PTCRA ENSG00000171611 -606818 gene 10072 DPP3 ENSG00000254986 -606819 gene 54878 DPP8 ENSG00000074603 -606820 gene 51022 GLRX2 ENSG00000023572 -606821 gene 10466 COG5 ENSG00000164597 -606822 gene 55624 POMGNT1 ENSG00000085998 -606823 gene 25960 ADGRA2 ENSG00000020181 -606824 phenotype -606825 gene 64759 TNS3 ENSG00000136205 -606826 gene 57125 PLXDC1 ENSG00000161381 -606827 gene 84898 PLXDC2 ENSG00000120594 -606828 gene 55577 NAGK ENSG00000124357 -606829 gene 2395 FXN ENSG00000165060 -606830 gene 23287 AGTPBP1 ENSG00000135049 -606831 gene 58484 NLRC4 ENSG00000091106 -606832 gene 51752 ERAP1 ENSG00000164307 -606833 gene 58508 KMT2C ENSG00000055609 -606834 gene 9757 KMT2B ENSG00000272333 -606835 phenotype -606836 gene 9245 GCNT3 ENSG00000140297 -606837 gene 9821 RB1CC1 ENSG00000023287 -606838 gene 29108 PYCARD ENSG00000103490 -606839 gene 53841 CDHR5 ENSG00000099834 -606840 phenotype -606841 gene 9191 DEDD ENSG00000158796 -606842 phenotype -606843 phenotype -606844 gene 7840 ALMS1 ENSG00000116127 -606845 gene 57120 GOPC ENSG00000047932 -606846 gene 150572 SMYD1 ENSG00000115593 -606847 gene 6949 TCOF1 ENSG00000070814 -606848 gene 140609 NEK7 ENSG00000151414 -606849 gene 59286 UBL5 ENSG00000198258 -606850 gene 145282 MIPOL1 ENSG00000151338 -606851 predominantly phenotypes -606852 phenotype 170534 -606853 gene 534 ATP6V1G2 ENSG00000213760 -606854 phenotype -606855 gene 117579 RLN3 ENSG00000171136 -606856 phenotype -606857 gene 2729 GCLC ENSG00000001084 -606858 moved/removed -606859 moved/removed -606860 gene 710 SERPING1 ENSG00000149131 -606861 gene 160065 PATE1 ENSG00000171053 -606862 gene 126014 OSCAR ENSG00000170909 -606863 gene 9760 TOX ENSG00000198846 -606864 phenotype -606865 gene 10690 FUT9 ENSG00000172461 -606866 gene 740 MRPL49 ENSG00000149792 -606867 gene 64689 GORASP1 ENSG00000114745 -606868 gene 28996 HIPK2 ENSG00000064393 -606869 gene 3073 HEXA ENSG00000213614 -606870 gene 58494 JAM2 ENSG00000154721 -606871 gene 83700 JAM3 ENSG00000166086 -606872 gene 79872 CBLL1 ENSG00000105879 -606873 gene 3074 HEXB ENSG00000049860 -606874 phenotype 246321 -606875 phenotype 246322 -606876 gene 23760 PITPNB ENSG00000180957 -606877 gene 23520 ANP32C -606878 gene 23519 ANP32D ENSG00000139223 -606879 gene 26227 PHGDH ENSG00000092621 -606880 gene 9994 CASP8AP2 ENSG00000118412 -606881 gene 29109 FHOD1 ENSG00000135723 -606882 gene 540 ATP7B ENSG00000123191 -606883 gene 51135 IRAK4 ENSG00000198001 -606884 gene 10181 RBM5 ENSG00000003756 -606885 gene 35 ACADS ENSG00000122971 -606886 gene 10180 RBM6 ENSG00000004534 -606887 gene 6821 SUOX ENSG00000139531 -606888 gene 8973 CHRNA6 ENSG00000147434 -606889 phenotype -606890 gene 2581 GALC ENSG00000054983 -606891 gene 84824 FCRLA ENSG00000132185 -606892 gene 23673 STX12 ENSG00000117758 -606893 phenotype -606894 predominantly phenotypes -606895 predominantly phenotypes -606896 phenotype 171089 -606897 gene 1130 LYST ENSG00000143669 -606898 gene 59285 CACNG6 ENSG00000130433 -606899 gene 59284 CACNG7 ENSG00000105605 -606900 gene 59283 CACNG8 ENSG00000142408 -606901 moved/removed -606902 gene 26108 PYGO1 ENSG00000171016 -606903 gene 90780 PYGO2 ENSG00000163348 -606904 moved/removed -606905 gene 57580 PREX1 ENSG00000124126 -606906 gene 29960 MRM2 ENSG00000122687 -606907 gene 55937 APOM ENSG00000204444 -606908 gene 84364 ARFGAP2 ENSG00000149182 -606909 gene 8674 VAMP4 ENSG00000117533 -606910 gene 10017 BCL2L10 ENSG00000137875 -606911 gene 9522 SCAMP1 ENSG00000085365 -606912 gene 10066 SCAMP2 ENSG00000140497 -606913 gene 10067 SCAMP3 ENSG00000116521 -606914 gene 5570 PKIB ENSG00000135549 -606915 gene 81491 GPR63 ENSG00000112218 -606916 gene 83873 GPR61 ENSG00000156097 -606917 gene 118442 GPR62 ENSG00000180929 -606918 gene 9950 GOLGA5 ENSG00000066455 -606919 gene 10715 CERS1 ENSG00000223802 -606920 gene 29956 CERS2 ENSG00000143418 -606921 gene 27201 GPR78 ENSG00000155269 -606922 gene 27199 OXGR1 ENSG00000165621 -606923 gene 27198 HCAR1 ENSG00000196917 -606924 moved/removed -606925 gene 84109 QRFPR ENSG00000186867 -606926 gene 57121 LPAR5 ENSG00000184574 -606927 gene 83551 TAAR8 ENSG00000146385 -606928 phenotype 246259 -606929 gene 84321 THOC3 ENSG00000051596 -606930 gene 9984 THOC1 ENSG00000079134 -606931 moved/removed -606932 gene 51699 VPS29 ENSG00000111237 -606933 gene 7299 TYR ENSG00000077498 -606934 gene 51103 NDUFAF1 ENSG00000137806 -606935 gene 84991 RBM17 ENSG00000134453 -606936 gene 54795 TRPM4 ENSG00000130529 -606937 moved/removed -606938 gene 7390 UROS ENSG00000188690 -606939 gene 526 ATP6V1B2 ENSG00000147416 -606940 gene 79776 ZFHX4 ENSG00000091656 -606941 gene 79796 ALG9 ENSG00000086848 -606942 gene 11316 COPE ENSG00000105669 -606943 phenotype -606944 gene 55914 ERBIN ENSG00000112851 -606945 gene 3949 LDLR ENSG00000130164 -606946 gene 29882 ANAPC2 ENSG00000176248 -606947 gene 29945 ANAPC4 ENSG00000053900 -606948 gene 51433 ANAPC5 ENSG00000089053 -606949 gene 51434 ANAPC7 ENSG00000196510 -606950 gene 29953 TRHDE ENSG00000072657 -606951 gene 64135 IFIH1 ENSG00000115267 -606952 phenotype -606953 gene 2582 GALE ENSG00000117308 -606954 gene 56242 ZNF253 ENSG00000256771 -606955 moved/removed -606956 gene 10172 ZNF256 ENSG00000152454 -606957 gene 113835 ZNF257 ENSG00000197134 -606958 gene 64398 PALS1 ENSG00000072415 -606959 gene 51678 PALS2 ENSG00000105926 -606960 phenotype 282551 -606961 gene 23559 WBP1 ENSG00000239779 -606962 gene 23558 WBP2 ENSG00000132471 -606963 phenotype 260431 -606964 gene 11329 STK38 ENSG00000112079 -606965 gene 10922 FASTK ENSG00000164896 -606966 phenotype -606967 gene 3931 LCAT ENSG00000213398 -606968 gene 29904 EEF2K ENSG00000103319 -606969 gene 50628 GEMIN4 ENSG00000179409 -606970 moved/removed -606971 moved/removed -606972 phenotype 353124 -606973 gene 9382 COG1 ENSG00000166685 -606974 gene 22796 COG2 ENSG00000135775 -606975 gene 83548 COG3 ENSG00000136152 -606976 gene 25839 COG4 ENSG00000103051 -606977 gene 57511 COG6 ENSG00000133103 -606978 gene 91949 COG7 ENSG00000168434 -606979 gene 84342 COG8 ENSG00000213380 -606980 gene 56997 COQ8A ENSG00000163050 -606981 gene 54331 GNG2 ENSG00000186469 -606982 gene 9453 GGPS1 ENSG00000152904 -606983 gene 84649 DGAT2 ENSG00000062282 -606984 phenotype -606985 gene 26610 ELP4 ENSG00000109911 -606986 moved/removed -606987 gene 131890 GRK7 ENSG00000114124 -606988 gene 11261 CHP1 ENSG00000187446 -606989 gene 4353 MPO ENSG00000005381 -606990 gene 9276 COPB2 ENSG00000184432 -606991 gene 9807 IP6K1 ENSG00000176095 -606992 gene 51447 IP6K2 ENSG00000068745 -606993 gene 117283 IP6K3 ENSG00000161896 -606994 gene 10188 TNK2 ENSG00000061938 -606995 phenotype 260432 -606996 phenotype -606997 gene 10438 C1D ENSG00000197223 -606998 gene 10211 FLOT1 ENSG00000137312 -606999 gene 2592 GALT ENSG00000213930 -607000 gene 9862 MED24 ENSG00000008838 -607001 gene 79813 EHMT1 ENSG00000181090 -607002 gene 60675 PROK2 ENSG00000163421 -607003 gene 85480 TSLP ENSG00000145777 -607004 phenotype 246260 -607005 gene 25929 GEMIN5 ENSG00000082516 -607006 gene 79833 GEMIN6 ENSG00000152147 -607007 gene 23557 SNAPIN ENSG00000143553 -607008 gene 34 ACADM ENSG00000117054 -607009 gene 140803 TRPM6 ENSG00000119121 -607010 gene 55802 DCP1A ENSG00000272886 -607011 gene 391627 USP17L9P ENSG00000251694 -607012 gene 55814 BDP1 ENSG00000145734 -607013 gene 55290 BRF2 ENSG00000104221 -607014 phenotype -607015 phenotype -607016 phenotype -607017 phenotype -607018 gene 23266 ADGRL2 ENSG00000117114 -607019 gene 283349 RASSF3 ENSG00000153179 -607020 gene 83593 RASSF5 ENSG00000266094 -607021 gene 23544 SEZ6L ENSG00000100095 -607022 gene 140690 CTCFL ENSG00000124092 -607023 gene 10769 PLK2 ENSG00000145632 -607024 gene 51163 DBR1 ENSG00000138231 -607025 gene 9833 MELK ENSG00000165304 -607026 gene 89797 NAV2 ENSG00000166833 -607027 gene 523 ATP6V1A ENSG00000114573 -607028 gene 9114 ATP6V0D1 ENSG00000159720 -607029 gene 10791 VAMP5 ENSG00000168899 -607030 gene 25801 GCA ENSG00000115271 -607031 gene 11019 LIAS ENSG00000121897 -607032 gene 23049 SMG1 ENSG00000157106 -607033 gene 51106 TFB1M ENSG00000029639 -607034 moved/removed -607035 gene 51684 SUFU ENSG00000107882 -607036 gene 3712 IVD ENSG00000128928 -607037 gene 1962 EHHADH ENSG00000113790 -607038 gene 146183 OTOA ENSG00000155719 -607039 phenotype -607040 gene 85320 ABCC11 ENSG00000121270 -607041 gene 94160 ABCC12 ENSG00000140798 -607042 gene 1201 CLN3 ENSG00000188603 -607043 gene 10758 TRAF3IP2 ENSG00000056972 -607044 predominantly phenotypes -607045 gene 196475 RMST ENSG00000255794 -607046 gene 56993 TOMM22 ENSG00000100216 -607047 gene 4287 ATXN3 ENSG00000066427 -607048 gene 10948 STARD3 ENSG00000131748 -607049 gene 134429 STARD4 ENSG00000164211 -607050 gene 80765 STARD5 ENSG00000172345 -607051 gene 147323 STARD6 ENSG00000174448 -607052 gene 11334 TUSC2 ENSG00000114383 -607053 phenotype 353127 -607054 gene 23612 PHLDA3 ENSG00000174307 -607055 gene 64216 TFB2M ENSG00000162851 -607056 gene 50939 IMPG2 ENSG00000081148 -607057 gene 11274 USP18 ENSG00000184979 -607058 gene 57369 GJD2 ENSG00000159248 -607059 gene 55630 SLC39A4 ENSG00000147804 -607060 phenotype -607061 gene 10728 PTGES3 ENSG00000110958 -607062 gene 51661 FKBP7 ENSG00000079150 -607063 gene 60681 FKBP10 ENSG00000141756 -607064 gene 26577 PCOLCE2 ENSG00000163710 -607065 gene 25797 QPCT ENSG00000115828 -607066 gene 162514 TRPV3 ENSG00000167723 -607067 gene 246744 STH ENSG00000256762 -607068 gene 11068 CYB561D2 ENSG00000114395 -607069 gene 11070 TMEM115 ENSG00000126062 -607070 gene 51364 ZMYND10 ENSG00000004838 -607071 gene 3373 HYAL1 ENSG00000114378 -607072 gene 10641 NPRL2 ENSG00000114388 -607073 gene 24142 NAA80 ENSG00000243477 -607074 gene 25865 PRKD2 ENSG00000105287 -607075 gene 11333 PDAP1 ENSG00000106244 -607076 gene 51050 PI15 ENSG00000137558 -607077 gene 23683 PRKD3 ENSG00000115825 -607078 phenotype -607079 gene 57127 RHBG ENSG00000132677 -607080 phenotype -607081 gene 55080 TAPBPL ENSG00000139192 -607082 gene 9254 CACNA2D2 ENSG00000007402 -607083 gene 54904 NSD3 ENSG00000147548 -607084 phenotype -607085 phenotype 246750 -607086 phenotype 252842 -607087 phenotype 252843 -607088 phenotype 246751 -607089 gene 23582 CCNDBP1 ENSG00000166946 -607090 gene 25949 SYF2 ENSG00000117614 -607091 phenotype -607092 gene 56848 SPHK2 ENSG00000063176 -607093 gene 4524 MTHFR ENSG00000177000 -607094 gene 9655 SOCS5 ENSG00000171150 -607095 phenotype -607096 gene 116085 SLC22A12 ENSG00000197891 -607097 gene 55867 SLC22A11 ENSG00000168065 -607098 predominantly phenotypes -607099 gene 25988 HINFP ENSG00000172273 -607100 gene 4867 NPHP1 ENSG00000144061 -607101 phenotype -607102 gene 7490 WT1 ENSG00000184937 -607103 gene 11101 ATE1 ENSG00000107669 -607104 gene 85456 TNKS1BP1 ENSG00000149115 -607105 gene 50508 NOX3 ENSG00000074771 -607106 gene 81502 HM13 ENSG00000101294 -607107 phenotype 257641 -607108 gene 5080 PAX6 ENSG00000007372 -607109 gene 200315 APOBEC3A ENSG00000128383 -607110 gene 9582 APOBEC3B ENSG00000179750 -607111 gene 23111 SPART ENSG00000133104 -607112 gene 26232 FBXO2 ENSG00000116661 -607113 gene 60489 APOBEC3G ENSG00000239713 -607114 gene 80332 ADAM33 ENSG00000149451 -607115 phenotype -607116 phenotype 353128 -607117 gene 79648 MCPH1 ENSG00000147316 -607118 gene 11222 MRPL3 ENSG00000114686 -607119 gene 25897 RNF19A ENSG00000034677 -607120 gene 23236 PLCB1 ENSG00000182621 -607121 moved/removed -607122 gene 10887 PROKR1 ENSG00000169618 -607123 gene 128674 PROKR2 ENSG00000101292 -607124 gene 8611 PLPP1 ENSG00000067113 -607125 gene 8613 PLPP3 ENSG00000162407 -607126 gene 8612 PLPP2 ENSG00000141934 -607127 gene 23085 ERC1 ENSG00000082805 -607128 gene 80351 TNKS2 ENSG00000107854 -607129 gene 64780 MICAL1 ENSG00000135596 -607130 gene 57521 RPTOR ENSG00000141564 -607131 phenotype -607132 predominantly phenotypes -607133 moved/removed -607134 phenotype 780906 -607135 phenotype 261727 -607136 phenotype -607137 gene 9987 HNRNPDL ENSG00000152795 -607138 gene 148327 CREB3L4 ENSG00000143578 -607139 gene 2175 FANCA ENSG00000187741 -607140 phenotype -607141 gene 152007 GLIPR2 ENSG00000122694 -607142 moved/removed -607143 phenotype -607144 gene 79087 ALG12 ENSG00000182858 -607145 gene 84062 DTNBP1 ENSG00000047579 -607146 gene 79849 PDZD3 ENSG00000172367 -607147 gene 25945 NECTIN3 ENSG00000177707 -607148 moved/removed -607149 gene 25996 REXO2 ENSG00000076043 -607150 gene 54738 FEV ENSG00000163497 -607151 phenotype -607152 phenotype 140907 -607153 gene 9270 ITGB1BP1 ENSG00000119185 -607154 phenotype -607155 phenotype -607156 gene 10402 ST3GAL6 ENSG00000064225 -607157 gene 114132 SIGLEC11 ENSG00000161640 -607158 gene 27287 VENTX ENSG00000151650 -607159 gene 57178 ZMIZ1 ENSG00000108175 -607160 gene 9296 ATP6V1F ENSG00000128524 -607161 predominantly phenotypes -607162 gene 29906 ST8SIA5 ENSG00000101638 -607163 gene 84695 LOXL3 ENSG00000115318 -607164 gene 85474 LBX2 ENSG00000179528 -607165 gene 10955 SERINC3 ENSG00000132824 -607166 gene 80705 TSGA10 ENSG00000135951 -607167 gene 83658 DYNLRB1 ENSG00000125971 -607168 gene 83657 DYNLRB2 ENSG00000168589 -607169 gene 10279 PRSS16 ENSG00000112812 -607170 gene 78987 CRELD1 ENSG00000163703 -607171 gene 79174 CRELD2 ENSG00000184164 -607172 gene 114790 STK11IP ENSG00000144589 -607173 gene 10213 PSMD14 ENSG00000115233 -607174 phenotype -607175 gene 80824 DUSP16 ENSG00000111266 -607176 gene 83698 CALN1 ENSG00000183166 -607177 gene 51278 IER5 ENSG00000162783 -607178 gene 10158 PDZK1IP1 ENSG00000162366 -607179 gene 10137 RBM12 ENSG00000244462 -607180 gene 79442 LRRC2 ENSG00000163827 -607181 gene 83597 RTP3 ENSG00000163825 -607182 gene 79443 FYCO1 ENSG00000163820 -607183 gene 10802 SEC24A ENSG00000113615 -607184 gene 10427 SEC24B ENSG00000138802 -607185 gene 9632 SEC24C ENSG00000176986 -607186 gene 9871 SEC24D ENSG00000150961 -607187 gene 6482 ST3GAL1 ENSG00000008513 -607188 gene 6483 ST3GAL2 ENSG00000157350 -607189 gene 85397 RGS8 ENSG00000135824 -607190 gene 6003 RGS13 ENSG00000127074 -607191 gene 26575 RGS17 ENSG00000091844 -607192 gene 64407 RGS18 ENSG00000150681 -607193 gene 8601 RGS20 ENSG00000147509 -607194 gene 256297 PTF1A ENSG00000168267 -607195 moved/removed -607196 phenotype -607197 predominantly phenotypes -607198 gene 55775 TDP1 ENSG00000042088 -607199 gene 3664 IRF6 ENSG00000117595 -607200 phenotype -607201 gene 10236 HNRNPR ENSG00000125944 -607202 phenotype 338332 -607203 gene 60485 SAV1 ENSG00000151748 -607204 gene 9698 PUM1 ENSG00000134644 -607205 gene 23369 PUM2 ENSG00000055917 -607206 gene 59344 ALOXE3 ENSG00000179148 -607207 gene 10273 STUB1 ENSG00000103266 -607208 phenotype -607209 gene 29775 CARD10 ENSG00000100065 -607210 gene 84433 CARD11 ENSG00000198286 -607211 gene 79092 CARD14 ENSG00000141527 -607212 gene 64170 CARD9 ENSG00000187796 -607213 gene 23594 ORC6 ENSG00000091651 -607214 predominantly phenotypes -607215 gene 261734 NPHP4 ENSG00000131697 -607216 gene 221935 SDK1 ENSG00000146555 -607217 gene 54549 SDK2 ENSG00000069188 -607218 gene 3663 IRF5 ENSG00000128604 -607219 gene 53942 CNTN5 ENSG00000149972 -607220 gene 27255 CNTN6 ENSG00000134115 -607221 phenotype 266789 -607222 gene 84893 FBH1 ENSG00000134452 -607223 gene 64094 SMOC2 ENSG00000112562 -607224 gene 220064 LTO1 ENSG00000149716 -607225 phenotype -607226 gene 79885 HDAC11 ENSG00000163517 -607227 gene 259249 MRGPRX1 ENSG00000170255 -607228 gene 117194 MRGPRX2 ENSG00000183695 -607229 gene 117195 MRGPRX3 ENSG00000179826 -607230 gene 117196 MRGPRX4 ENSG00000179817 -607231 gene 116512 MRGPRD ENSG00000172938 -607232 gene 116534 MRGPRE ENSG00000184350 -607233 gene 116535 MRGPRF ENSG00000172935 -607234 gene 386746 MRGPRG ENSG00000182170 -607235 gene 116511 MAS1L ENSG00000204687 -607236 phenotype -607237 gene 259236 TMIE ENSG00000181585 -607238 gene 150684 COMMD1 ENSG00000173163 -607239 phenotype 170508 -607240 gene 387893 KMT5A ENSG00000183955 -607241 gene 260436 FDCSP ENSG00000181617 -607242 gene 161 AP2A2 ENSG00000183020 -607243 gene 11154 AP4S1 ENSG00000100478 -607244 gene 23431 AP4E1 ENSG00000081014 -607245 gene 10717 AP4B1 ENSG00000134262 -607246 gene 8943 AP3D1 ENSG00000065000 -607247 gene 140578 CHODL ENSG00000154645 -607248 phenotype 338030 -607249 gene 117155 CATSPER2 ENSG00000166762 -607250 phenotype -607251 gene 29928 TIMM22 ENSG00000177370 -607252 gene 23780 APOL2 ENSG00000128335 -607253 gene 80833 APOL3 ENSG00000128284 -607254 gene 80832 APOL4 ENSG00000100336 -607255 gene 80831 APOL5 ENSG00000128313 -607256 gene 80830 APOL6 ENSG00000221963 -607257 gene 55553 SOX6 ENSG00000110693 -607258 phenotype 266790 -607259 phenotype -607260 gene 56891 LGALS14 ENSG00000006659 -607261 gene 132884 EVC2 ENSG00000173040 -607262 gene 29924 EPN1 ENSG00000063245 -607263 gene 22905 EPN2 ENSG00000072134 -607264 gene 55040 EPN3 ENSG00000049283 -607265 gene 9685 CLINT1 ENSG00000113282 -607266 moved/removed -607267 gene 54107 POLE3 ENSG00000148229 -607268 gene 54108 CHRAC1 ENSG00000104472 -607269 gene 56655 POLE4 ENSG00000115350 -607270 gene 26053 AUTS2 ENSG00000158321 -607271 phenotype -607272 gene 10403 NDC80 ENSG00000080986 -607273 gene 201163 FLCN ENSG00000154803 -607274 gene 9097 USP14 ENSG00000101557 -607275 gene 84525 HOPX ENSG00000171476 -607276 phenotype -607277 phenotype -607278 phenotype -607279 phenotype 170682 -607280 gene 152330 CNTN4 ENSG00000144619 -607281 gene 27257 LSM1 ENSG00000175324 -607282 gene 57819 LSM2 ENSG00000204392 -607283 gene 27258 LSM3 ENSG00000170860 -607284 gene 25804 LSM4 ENSG00000130520 -607285 gene 23658 LSM5 ENSG00000106355 -607286 gene 11157 LSM6 ENSG00000164167 -607287 gene 51690 LSM7 ENSG00000130332 -607288 gene 51691 LSM8 ENSG00000128534 -607289 gene 63915 BLOC1S5 ENSG00000188428 -607290 gene 51246 SHISA5 ENSG00000164054 -607291 gene 11276 SYNRG ENSG00000275066 -607292 gene 64218 SEMA4A ENSG00000196189 -607293 gene 53405 CLIC5 ENSG00000112782 -607294 gene 60436 TGIF2 ENSG00000118707 -607295 gene 84700 MYO18B ENSG00000133454 -607296 gene 9550 ATP6V1G1 ENSG00000136888 -607297 gene 4815 NINJ2 ENSG00000171840 -607298 gene 51764 GNG13 ENSG00000127588 -607299 gene 92737 DNER ENSG00000187957 -607300 gene 10594 PRPF8 ENSG00000174231 -607301 gene 9129 PRPF3 ENSG00000117360 -607302 moved/removed -607303 gene 10933 MORF4L1 ENSG00000185787 -607304 phenotype 266979 -607305 gene 259283 MDS2 ENSG00000197880 -607306 gene 6716 SRD5A2 ENSG00000277893 -607307 gene 27145 FILIP1 ENSG00000118407 -607308 phenotype -607309 gene 10053 AP1M2 ENSG00000129354 -607310 gene 8756 ADAM7 ENSG00000069206 -607311 gene 5241 PGR ENSG00000082175 -607312 gene 56829 ZC3HAV1 ENSG00000105939 -607313 phenotype -607314 gene 51475 CABP2 ENSG00000167791 -607315 gene 56344 CABP5 ENSG00000105507 -607316 moved/removed -607317 phenotype -607318 gene 84171 LOXL4 ENSG00000138131 -607319 gene 51460 SFMBT1 ENSG00000163935 -607320 gene 115727 RASGRP4 ENSG00000171777 -607321 gene 480 ATP1A4 ENSG00000132681 -607322 moved/removed -607323 phenotype -607324 phenotype 338333 -607325 gene 23348 DOCK9 ENSG00000088387 -607326 phenotype -607327 gene 10150 MBNL2 ENSG00000139793 -607328 gene 10614 HEXIM1 ENSG00000186834 -607329 phenotype 387575 -607330 phenotype -607331 gene 6100 RP9 ENSG00000164610 -607332 gene 9315 NREP ENSG00000134986 -607333 gene 55437 STRADB ENSG00000082146 -607334 gene 66008 TRAK2 ENSG00000115993 -607335 gene 54831 BEST2 ENSG00000039987 -607336 gene 266675 BEST4 ENSG00000142959 -607337 gene 144453 BEST3 ENSG00000127325 -607338 gene 23484 LEPROTL1 ENSG00000104660 -607339 phenotype 338334 -607340 gene 9568 GABBR2 ENSG00000136928 -607341 phenotype -607342 gene 64506 CPEB1 ENSG00000214575 -607343 gene 57167 SALL4 ENSG00000101115 -607344 gene 51174 TUBD1 ENSG00000108423 -607345 gene 51175 TUBE1 ENSG00000074935 -607346 phenotype -607347 gene 80216 ALPK1 ENSG00000073331 -607348 gene 388585 HES5 ENSG00000197921 -607349 gene 83660 TLN2 ENSG00000171914 -607350 gene 23303 KIF13B ENSG00000197892 -607351 gene 9886 RHOBTB1 ENSG00000072422 -607352 gene 23221 RHOBTB2 ENSG00000008853 -607353 gene 22836 RHOBTB3 ENSG00000164292 -607354 phenotype 282552 -607355 gene 192669 AGO3 ENSG00000126070 -607356 gene 192670 AGO4 ENSG00000134698 -607357 gene 56479 KCNQ5 ENSG00000185760 -607358 gene 326 AIRE ENSG00000160224 -607359 gene 57805 CCAR2 ENSG00000158941 -607360 gene 90070 LACRT ENSG00000135413 -607361 phenotype -607362 gene 56963 RGMA ENSG00000182175 -607363 gene 9735 KNTC1 ENSG00000184445 -607364 phenotype -607365 gene 200879 LIPH ENSG00000163898 -607366 gene 56660 KCNK12 ENSG00000184261 -607367 gene 56659 KCNK13 ENSG00000152315 -607368 gene 60598 KCNK15 ENSG00000124249 -607369 gene 83795 KCNK16 ENSG00000095981 -607370 gene 89822 KCNK17 ENSG00000124780 -607371 phenotype -607372 gene 51586 MED15 ENSG00000099917 -607373 phenotype 282553 -607374 gene 5612 THAP12 ENSG00000137492 -607375 gene 84444 DOT1L ENSG00000104885 -607376 gene 10540 DCTN2 ENSG00000175203 -607377 gene 55891 LENEP ENSG00000163352 -607378 gene 26135 SERBP1 ENSG00000142864 -607379 gene 4771 NF2 ENSG00000186575 -607380 gene 26146 TRAF3IP1 ENSG00000204104 -607381 gene 92609 TIMM50 ENSG00000105197 -607382 gene 25999 CLIP3 ENSG00000105270 -607383 gene 26517 TIMM13 ENSG00000099800 -607384 gene 26520 TIMM9 ENSG00000100575 -607385 gene 25834 MGAT4C ENSG00000182050 -607386 gene 26160 IFT172 ENSG00000138002 -607387 gene 11258 DCTN3 ENSG00000137100 -607388 gene 26515 TIMM10B ENSG00000132286 -607389 gene 23635 SSBP2 ENSG00000145687 -607390 gene 23648 SSBP3 ENSG00000157216 -607391 gene 170463 SSBP4 ENSG00000130511 -607392 gene 25937 WWTR1 ENSG00000018408 -607393 gene 79577 CDC73 ENSG00000134371 -607394 gene 25833 POU2F3 ENSG00000137709 -607395 predominantly phenotypes -607396 gene 10766 TOB2 ENSG00000183864 -607397 gene 4158 MC2R ENSG00000185231 -607398 phenotype -607399 gene 255231 MCOLN2 ENSG00000153898 -607400 gene 55283 MCOLN3 ENSG00000055732 -607401 gene 282616 IFNL2 ENSG00000183709 -607402 gene 282617 IFNL3 ENSG00000197110 -607403 gene 282618 IFNL1 ENSG00000182393 -607404 gene 163702 IFNLR1 ENSG00000185436 -607405 gene 9038 TAAR5 ENSG00000135569 -607406 gene 8987 STBD1 ENSG00000118804 -607407 gene 253738 EBF3 ENSG00000108001 -607408 gene 267012 DAOA ENSG00000182346 -607409 gene 51299 NRN1 ENSG00000124785 -607410 gene 127343 DMBX1 ENSG00000197587 -607411 phenotype 100996949 -607412 gene 51297 BPIFA1 ENSG00000198183 -607413 predominantly phenotypes -607414 gene 55079 FEZF2 ENSG00000153266 -607415 gene 282706 DAOA-AS1 ENSG00000232307 -607416 gene 10752 CHL1 ENSG00000134121 -607417 phenotype -607418 gene 79571 GCC1 ENSG00000179562 -607419 gene 79760 GEMIN7 ENSG00000142252 -607420 gene 23710 GABARAPL1 ENSG00000139112 -607421 gene 51314 NME8 ENSG00000086288 -607422 gene 23464 GCAT ENSG00000100116 -607423 gene 10585 POMT1 ENSG00000130714 -607424 gene 10249 GLYAT ENSG00000149124 -607425 gene 125111 GJD3 ENSG00000183153 -607426 phenotype -607427 gene 55556 ENOSF1 ENSG00000132199 -607428 gene 55243 KIRREL1 ENSG00000183853 -607429 gene 23590 PDSS1 ENSG00000148459 -607430 gene 26528 DAZAP1 ENSG00000071626 -607431 gene 9802 DAZAP2 ENSG00000183283 -607432 phenotype -607433 gene 11344 TWF2 ENSG00000247596 -607434 gene 54676 GTPBP2 ENSG00000172432 -607435 gene 26284 ERAL1 ENSG00000132591 -607436 gene 56903 PAPOLB ENSG00000218823 -607437 gene 55507 GPRC5D ENSG00000111291 -607438 moved/removed -607439 gene 29954 POMT2 ENSG00000009830 -607440 gene 2218 FKTN ENSG00000106692 -607441 gene 94240 EPSTI1 ENSG00000133106 -607442 gene 27436 EML4 ENSG00000143924 -607443 gene 64100 ELSPBP1 ENSG00000169393 -607444 gene 51119 SBDS ENSG00000126524 -607445 gene 56478 EIF4ENIF1 ENSG00000184708 -607446 phenotype 337895 -607447 phenotype -607448 gene 64106 NPFFR1 ENSG00000148734 -607449 gene 10886 NPFFR2 ENSG00000056291 -607450 phenotype -607451 gene 26205 GMEB2 ENSG00000101216 -607452 gene 11345 GABARAPL2 ENSG00000034713 -607453 phenotype -607454 phenotype -607455 gene 60685 ZFAND3 ENSG00000156639 -607456 gene 84916 UTP4 ENSG00000141076 -607457 phenotype -607458 phenotype 94008 -607459 phenotype -607460 gene 51365 PLA1A ENSG00000144837 -607461 gene 54808 DYM ENSG00000141627 -607462 gene 1822 ATN1 ENSG00000111676 -607463 gene 10848 PPP1R13L ENSG00000104881 -607464 phenotype -607465 gene 146059 CDAN1 ENSG00000140326 -607466 gene 84932 RAB2B ENSG00000129472 -607467 gene 160365 CLECL1 ENSG00000184293 -607468 gene 54112 GPR88 ENSG00000181656 -607469 gene 27163 NAAA ENSG00000138744 -607470 gene 54828 BCAS3 ENSG00000141376 -607471 gene 55653 BCAS4 ENSG00000124243 -607472 gene 10730 YME1L1 ENSG00000136758 -607473 phenotype -607474 gene 3081 HGD ENSG00000113924 -607475 phenotype -607476 phenotype -607477 gene 51512 GTSE1 ENSG00000075218 -607478 gene 121278 TPH2 ENSG00000139287 -607479 gene 147495 APCDD1 ENSG00000154856 -607480 moved/removed -607481 gene 166785 MMAA ENSG00000151611 -607482 phenotype -607483 phenotype -607484 gene 50855 PARD6A ENSG00000102981 -607485 phenotype -607486 phenotype -607487 phenotype -607488 phenotype 317714 -607489 gene 23113 CUL9 ENSG00000112659 -607490 gene 197257 LDHD ENSG00000166816 -607491 gene 23509 POFUT1 ENSG00000101346 -607492 gene 55690 PACS1 ENSG00000175115 -607493 gene 54556 ING3 ENSG00000071243 -607494 gene 8821 INPP4B ENSG00000109452 -607495 moved/removed -607496 gene 115677 NOSTRIN ENSG00000163072 -607497 gene 135152 B3GAT2 ENSG00000112309 -607498 phenotype 337892 -607499 phenotype 337893 -607500 moved/removed -607501 phenotype 338342 -607502 gene 84976 DISP1 ENSG00000154309 -607503 gene 85455 DISP2 ENSG00000140323 -607504 predominantly phenotypes -607505 gene 23178 PASK ENSG00000115687 -607506 gene 140766 ADAMTS14 ENSG00000138316 -607507 phenotype -607508 phenotype 387576 -607509 gene 170689 ADAMTS15 ENSG00000166106 -607510 gene 170690 ADAMTS16 ENSG00000145536 -607511 gene 170691 ADAMTS17 ENSG00000140470 -607512 gene 170692 ADAMTS18 ENSG00000140873 -607513 gene 171019 ADAMTS19 ENSG00000145808 -607514 phenotype -607515 gene 51316 PLAC8 ENSG00000145287 -607516 phenotype 317773 -607517 gene 23547 LILRA4 ENSG00000239961 -607518 gene 126364 LRRC25 ENSG00000175489 -607519 gene 143 PARP4 ENSG00000102699 -607520 gene 326340 ZAR1 ENSG00000182223 -607521 gene 11234 HPS5 ENSG00000110756 -607522 gene 79803 HPS6 ENSG00000166189 -607523 phenotype -607524 gene 80352 RNF39 ENSG00000204618 -607525 gene 30834 POLR1H ENSG00000066379 -607526 gene 6155 RPL27 ENSG00000131469 -607527 gene 9991 PTBP3 ENSG00000119314 -607528 gene 54538 ROBO4 ENSG00000154133 -607529 gene 6301 SARS1 ENSG00000031698 -607530 gene 221883 HOXA11-AS ENSG00000240990 -607531 gene 11278 KLF12 ENSG00000118922 -607532 gene 10464 PIBF1 ENSG00000083535 -607533 gene 22894 DIS3 ENSG00000083520 -607534 gene 10138 YAF2 ENSG00000015153 -607535 gene 23429 RYBP ENSG00000163602 -607536 gene 23373 CRTC1 ENSG00000105662 -607537 gene 84441 MAML2 ENSG00000184384 -607538 gene 81565 NDEL1 ENSG00000166579 -607539 phenotype -607540 predominantly phenotypes -607541 phenotype -607542 gene 3784 KCNQ1 ENSG00000053918 -607543 predominantly phenotypes -607544 gene 10128 LRPPRC ENSG00000138095 -607545 gene 6307 MSMO1 ENSG00000052802 -607546 gene 131450 CD200R1 ENSG00000163606 -607547 gene 116832 RPL39L ENSG00000163923 -607548 gene 81492 RSPH6A ENSG00000104941 -607549 gene 317754 POTED ENSG00000166351 -607550 gene 117247 SLC16A10 ENSG00000112394 -607551 gene 23753 SDF2L1 ENSG00000128228 -607552 moved/removed -607553 gene 83481 EPPK1 ENSG00000261150 -607554 phenotype -607555 gene 64222 TOR3A ENSG00000186283 -607556 gene 117581 TWIST2 ENSG00000233608 -607557 gene 246213 SLC17A8 ENSG00000179520 -607558 gene 23541 SEC14L2 ENSG00000100003 -607559 gene 23295 MGRN1 ENSG00000102858 -607560 gene 9181 ARHGEF2 ENSG00000116584 -607561 moved/removed -607562 gene 149233 IL23R ENSG00000162594 -607563 gene 57084 SLC17A6 ENSG00000091664 -607564 gene 117854 TRIM6 ENSG00000121236 -607565 predominantly phenotypes -607566 gene 7957 EPM2A ENSG00000112425 -607567 gene 118427 OLFM3 ENSG00000118733 -607568 gene 326625 MMAB ENSG00000139428 -607569 moved/removed -607570 gene 79665 DHX40 ENSG00000108406 -607571 gene 89874 SLC25A21 ENSG00000183032 -607572 phenotype -607573 gene 55201 MAP1S ENSG00000130479 -607574 gene 410 ARSA ENSG00000100299 -607575 gene 51816 ADA2 ENSG00000093072 -607576 gene 27443 CECR2 ENSG00000099954 -607577 gene 9583 ENTPD4 ENSG00000197217 -607578 predominantly phenotypes -607579 gene 114571 SLC22A9 ENSG00000149742 -607580 gene 387775 SLC22A10 ENSG00000184999 -607581 gene 9376 SLC22A8 ENSG00000149452 -607582 gene 9356 SLC22A6 ENSG00000197901 -607583 gene 92960 PEX11G ENSG00000104883 -607584 phenotype 338090 -607585 gene 472 ATM ENSG00000149311 -607586 gene 79800 CARF ENSG00000138380 -607587 gene 53342 IL17D ENSG00000172458 -607588 gene 23759 PPIL2 ENSG00000100023 -607589 gene 10110 SGK2 ENSG00000101049 -607590 gene 55212 BBS7 ENSG00000138686 -607591 gene 23678 SGK3 ENSG00000104205 -607592 phenotype 347747 -607593 gene 9656 MDC1 ENSG00000137337 -607594 phenotype -607595 moved/removed -607596 phenotype -607597 predominantly phenotypes -607598 phenotype -607599 gene 157506 RDH10 ENSG00000121039 -607600 phenotype -607601 gene 148022 TICAM1 ENSG00000127666 -607602 phenotype -607603 gene 93107 KCNG4 ENSG00000168418 -607604 gene 169522 KCNV2 ENSG00000168263 -607605 gene 221357 GSTA5 ENSG00000182793 -607606 gene 3857 KRT9 ENSG00000171403 -607607 gene 53371 NUP54 ENSG00000138750 -607608 gene 6609 SMPD1 ENSG00000166311 -607609 gene 85313 PPIL4 ENSG00000131013 -607610 gene 57047 PLSCR2 ENSG00000163746 -607611 gene 57048 PLSCR3 ENSG00000187838 -607612 gene 57088 PLSCR4 ENSG00000114698 -607613 gene 55746 NUP133 ENSG00000069248 -607614 gene 23279 NUP160 ENSG00000030066 -607615 gene 9818 NUP58 ENSG00000139496 -607616 phenotype -607617 gene 57122 NUP107 ENSG00000111581 -607618 gene 55794 DDX28 ENSG00000182810 -607619 gene 257019 FRMD3 ENSG00000172159 -607620 gene 10584 COLEC10 ENSG00000184374 -607621 gene 81035 COLEC12 ENSG00000158270 -607622 gene 10654 PMVK ENSG00000163344 -607623 gene 4864 NPC1 ENSG00000141458 -607624 phenotype -607625 phenotype -607626 phenotype -607627 gene 317716 BPIFA4P ENSG00000183566 -607628 phenotype -607629 gene 51107 APH1A ENSG00000117362 -607630 gene 83464 APH1B ENSG00000138613 -607631 phenotype -607632 gene 55851 PSENEN ENSG00000205155 -607633 gene 7498 XDH ENSG00000158125 -607634 phenotype -607635 gene 51200 CPA4 ENSG00000128510 -607636 moved/removed -607637 gene 196047 EMX2OS ENSG00000229847 -607638 gene 1635 DCTD ENSG00000129187 -607639 gene 136853 SSC4D ENSG00000146700 -607640 gene 6314 ATXN7 ENSG00000163635 -607641 phenotype -607642 gene 10743 RAI1 ENSG00000108557 -607643 gene 25794 FSCN2 ENSG00000186765 -607644 phenotype 338434 -607645 gene 27065 NSG1 ENSG00000168824 -607646 gene 51043 ZBTB7B ENSG00000160685 -607647 gene 83483 PLVAP ENSG00000130300 -607648 gene 27347 STK39 ENSG00000198648 -607649 gene 28962 OSTM1 ENSG00000081087 -607650 gene 117285 DEFB118 ENSG00000131068 -607651 gene 58473 PLEKHB1 ENSG00000021300 -607652 gene 27148 STK36 ENSG00000163482 -607653 gene 57381 RHOJ ENSG00000126785 -607654 phenotype -607655 phenotype -607656 phenotype -607657 gene 1491 CTH ENSG00000116761 -607658 phenotype -607659 gene 55840 EAF2 ENSG00000145088 -607660 gene 81629 TSSK3 ENSG00000162526 -607661 moved/removed -607662 gene 9825 SPATA2 ENSG00000158480 -607663 gene 29118 DDX25 ENSG00000109832 -607664 gene 2799 GNS ENSG00000135677 -607665 predominantly phenotypes -607666 gene 253935 ANGPTL5 ENSG00000187151 -607667 gene 29119 CTNNA3 ENSG00000183230 -607668 gene 51329 ARL6IP4 ENSG00000182196 -607669 gene 23204 ARL6IP1 ENSG00000170540 -607670 gene 65975 STK33 ENSG00000130413 -607671 phenotype 93983 -607672 gene 23529 CLCF1 ENSG00000175505 -607673 gene 9695 EDEM1 ENSG00000134109 -607674 phenotype -607675 gene 23186 RCOR1 ENSG00000089902 -607676 phenotype -607677 phenotype -607678 phenotype -607679 gene 9732 DOCK4 ENSG00000128512 -607680 gene 25898 RCHY1 ENSG00000163743 -607681 phenotype -607682 phenotype -607683 phenotype -607684 phenotype -607685 phenotype -607686 gene 81608 FIP1L1 ENSG00000145216 -607687 phenotype 353125 -607688 phenotype -607689 moved/removed -607690 gene 51128 SAR1B ENSG00000152700 -607691 gene 56681 SAR1A ENSG00000079332 -607692 moved/removed -607693 gene 79048 SECISBP2 ENSG00000187742 -607694 phenotype -607695 gene 60678 EEFSEC ENSG00000132394 -607696 gene 124590 USH1G ENSG00000182040 -607697 gene 81846 SBF2 ENSG00000133812 -607698 gene 84458 LCOR ENSG00000196233 -607699 gene 56254 RNF20 ENSG00000155827 -607700 gene 9810 RNF40 ENSG00000103549 -607701 gene 10324 KLHL41 ENSG00000239474 -607702 gene 56892 TCIM ENSG00000176907 -607703 gene 23225 NUP210 ENSG00000132182 -607704 gene 23189 KANK1 ENSG00000107104 -607705 gene 23198 PSME4 ENSG00000068878 -607706 phenotype -607707 gene 816 CAMK2B ENSG00000058404 -607708 gene 817 CAMK2D ENSG00000145349 -607709 gene 9414 TJP2 ENSG00000119139 -607710 gene 9413 FAM189A2 ENSG00000135063 -607711 gene 23181 DIP2A ENSG00000160305 -607712 gene 23119 HIC2 ENSG00000169635 -607713 gene 83888 FGFBP2 ENSG00000137441 -607714 gene 10318 TNIP1 ENSG00000145901 -607715 gene 8848 TSC22D1 ENSG00000102804 -607716 gene 57586 SYT13 ENSG00000019505 -607717 gene 23371 TNS2 ENSG00000111077 -607718 gene 148281 SYT6 ENSG00000134207 -607719 gene 90019 SYT8 ENSG00000149043 -607720 gene 55815 TSNAXIP1 ENSG00000102904 -607721 phenotype -607722 gene 9694 EMC2 ENSG00000104412 -607723 gene 23353 SUN1 ENSG00000164828 -607724 gene 84698 CAPS2 ENSG00000180881 -607725 gene 10038 PARP2 ENSG00000129484 -607726 gene 10039 PARP3 ENSG00000041880 -607727 gene 55832 CAND1 ENSG00000111530 -607728 phenotype 353147 -607729 gene 54541 DDIT4 ENSG00000168209 -607730 gene 115265 DDIT4L ENSG00000145358 -607731 phenotype 619496 -607732 gene 23098 SARM1 ENSG00000004139 -607733 gene 23513 SCRIB ENSG00000180900 -607734 phenotype -607735 gene 10424 PGRMC2 ENSG00000164040 -607736 phenotype -607737 gene 9982 FGFBP1 ENSG00000137440 -607738 gene 9312 KCNB2 ENSG00000182674 -607739 moved/removed -607740 gene 84669 USP32 ENSG00000170832 -607741 gene 729873 TBC1D3 ENSG00000274611 -607742 gene 192666 KRT24 ENSG00000167916 -607743 gene 10818 FRS2 ENSG00000166225 -607744 gene 10817 FRS3 ENSG00000137218 -607745 phenotype -607746 gene 10979 FERMT2 ENSG00000073712 -607747 gene 54751 FBLIM1 ENSG00000162458 -607748 phenotype -607749 gene 83461 CDCA3 ENSG00000111665 -607750 gene 27350 APOBEC3C ENSG00000244509 -607751 gene 5726 TAS2R38 ENSG00000257138 -607752 gene 10309 CCNO ENSG00000152669 -607753 gene 23583 SMUG1 ENSG00000123415 -607754 gene 23608 MKRN1 ENSG00000133606 -607755 gene 23542 MAPK8IP2 ENSG00000008735 -607756 gene 60496 AASDHPPT ENSG00000149313 -607757 gene 25776 CBY1 ENSG00000100211 -607758 gene 56998 CTNNBIP1 ENSG00000178585 -607759 gene 3674 ITGA2B ENSG00000005961 -607760 gene 11073 TOPBP1 ENSG00000163781 -607761 gene 84623 KIRREL3 ENSG00000149571 -607762 gene 84063 KIRREL2 ENSG00000126259 -607763 gene 9744 ACAP1 ENSG00000072818 -607764 gene 80270 HSD3B7 ENSG00000099377 -607765 phenotype -607766 gene 23527 ACAP2 ENSG00000114331 -607767 gene 83667 SESN2 ENSG00000130766 -607768 gene 143686 SESN3 ENSG00000149212 -607769 gene 57664 PLEKHA4 ENSG00000105559 -607770 gene 54477 PLEKHA5 ENSG00000052126 -607771 gene 22874 PLEKHA6 ENSG00000143850 -607772 gene 59338 PLEKHA1 ENSG00000107679 -607773 gene 59339 PLEKHA2 ENSG00000169499 -607774 gene 65977 PLEKHA3 ENSG00000116095 -607775 gene 23704 KCNE4 ENSG00000152049 -607776 gene 25942 SIN3A ENSG00000169375 -607777 gene 23309 SIN3B ENSG00000127511 -607778 phenotype -607779 gene 164091 PAQR7 ENSG00000182749 -607780 gene 85315 PAQR8 ENSG00000170915 -607781 gene 54852 PAQR5 ENSG00000137819 -607782 gene 55692 LUC7L ENSG00000007392 -607783 gene 23184 MESD ENSG00000117899 -607784 gene 64137 ABCG4 ENSG00000172350 -607785 phenotype -607786 gene 255738 PCSK9 ENSG00000169174 -607787 gene 160897 GPR180 ENSG00000152749 -607788 gene 90411 MCFD2 ENSG00000180398 -607789 gene 23469 PHF3 ENSG00000118482 -607790 gene 80312 TET1 ENSG00000138336 -607791 phenotype -607792 gene 257144 GCSAM ENSG00000174500 -607793 gene 56342 PPAN ENSG00000130810 -607794 gene 317751 MESTIT1 ENSG00000272701 -607795 gene 9128 PRPF4 ENSG00000136875 -607796 gene 51131 PHF11 ENSG00000136147 -607797 gene 9410 SNRNP40 ENSG00000060688 -607798 gene 138474 TAF1L ENSG00000122728 -607799 gene 23390 ZDHHC17 ENSG00000186908 -607800 gene 26154 ABCA12 ENSG00000144452 -607801 moved/removed -607802 gene 26507 CNNM1 ENSG00000119946 -607803 gene 54805 CNNM2 ENSG00000148842 -607804 gene 26505 CNNM3 ENSG00000168763 -607805 gene 26504 CNNM4 ENSG00000158158 -607806 gene 133060 OTOP1 ENSG00000163982 -607807 gene 154664 ABCA13 ENSG00000179869 -607808 gene 644524 NKX2-4 ENSG00000125816 -607809 gene 38 ACAT1 ENSG00000075239 -607810 gene 91543 RSAD2 ENSG00000134321 -607811 gene 55003 PAK1IP1 ENSG00000111845 -607812 phenotype -607813 gene 9890 PLPPR4 ENSG00000117600 -607814 gene 388531 RGS9BP ENSG00000186326 -607815 gene 56899 ANKS1B ENSG00000185046 -607816 gene 84108 PCGF6 ENSG00000156374 -607817 gene 157680 VPS13B ENSG00000132549 -607818 gene 22891 ZNF365 ENSG00000138311 -607819 gene 64924 SLC30A5 ENSG00000145740 -607820 gene 51361 HOOK1 ENSG00000134709 -607821 phenotype -607822 phenotype -607823 phenotype -607824 gene 29911 HOOK2 ENSG00000095066 -607825 gene 84376 HOOK3 ENSG00000168172 -607826 gene 10768 AHCYL1 ENSG00000168710 -607827 gene 92736 OTOP2 ENSG00000183034 -607828 gene 347741 OTOP3 ENSG00000182938 -607829 phenotype -607830 gene 80144 FRAS1 ENSG00000138759 -607831 phenotype -607832 phenotype -607833 gene 255061 TAC4 ENSG00000176358 -607834 phenotype -607835 gene 51639 SF3B6 ENSG00000115128 -607836 phenotype -607837 gene 2055 CLN8 ENSG00000182372 -607838 gene 84572 GNPTG ENSG00000090581 -607839 gene 2632 GBE1 ENSG00000114480 -607840 gene 79158 GNPTAB ENSG00000111670 -607841 phenotype -607842 phenotype -607843 gene 93035 PKHD1L1 ENSG00000205038 -607844 gene 23592 LEMD3 ENSG00000174106 -607845 gene 57510 XPO5 ENSG00000124571 -607846 gene 55798 METTL2B ENSG00000165055 -607847 phenotype -607848 gene 83547 RILP ENSG00000167705 -607849 gene 51109 RDH11 ENSG00000072042 -607850 phenotype -607851 gene 85407 NKD1 ENSG00000140807 -607852 gene 85409 NKD2 ENSG00000145506 -607853 phenotype 619493 -607854 gene 7439 BEST1 ENSG00000167995 -607855 phenotype -607856 gene 84952 CGNL1 ENSG00000128849 -607857 phenotype 359825 -607858 gene 55486 PARL ENSG00000175193 -607859 predominantly phenotypes -607860 gene 55249 YY1AP1 ENSG00000163374 -607861 gene 51339 DACT1 ENSG00000165617 -607862 gene 148252 DIRAS1 ENSG00000176490 -607863 gene 54769 DIRAS2 ENSG00000165023 -607864 phenotype -607865 gene 83852 SETDB2 ENSG00000136169 -607866 gene 57213 SPRYD7 ENSG00000123178 -607867 gene 55213 RCBTB1 ENSG00000136144 -607868 gene 81559 TRIM11 ENSG00000154370 -607869 gene 90249 UNC5A ENSG00000113763 -607870 gene 219699 UNC5B ENSG00000107731 -607871 gene 80204 FBXO11 ENSG00000138081 -607872 phenotype -607873 gene 8578 SCARF1 ENSG00000074660 -607874 gene 55311 ZNF444 ENSG00000167685 -607875 gene 51763 INPP5K ENSG00000132376 -607876 phenotype -607877 gene 150677 OTOS ENSG00000178602 -607878 gene 23530 NNT ENSG00000112992 -607879 gene 55763 EXOC1 ENSG00000090989 -607880 gene 23233 EXOC6B ENSG00000144036 -607881 gene 55620 STAP2 ENSG00000178078 -607882 gene 79581 SLC52A2 ENSG00000185803 -607883 gene 55065 SLC52A1 ENSG00000132517 -607884 gene 113540 CMTM1 ENSG00000089505 -607885 gene 146225 CMTM2 ENSG00000140932 -607886 gene 123920 CMTM3 ENSG00000140931 -607887 gene 146223 CMTM4 ENSG00000183723 -607888 gene 116173 CMTM5 ENSG00000166091 -607889 gene 54918 CMTM6 ENSG00000091317 -607890 gene 112616 CMTM7 ENSG00000153551 -607891 gene 152189 CMTM8 ENSG00000170293 -607892 gene 147409 DSG4 ENSG00000175065 -607893 phenotype 574048 -607894 gene 114780 PKD1L2 ENSG00000166473 -607895 gene 342372 PKD1L3 ENSG00000277481 -607896 gene 124641 OVCA2 ENSG00000262664 -607897 gene 124540 MSI2 ENSG00000153944 -607898 gene 57761 TRIB3 ENSG00000101255 -607899 gene 51352 WT1-AS ENSG00000183242 -607900 gene 55612 FERMT1 ENSG00000101311 -607901 gene 83706 FERMT3 ENSG00000149781 -607902 gene 10073 SNUPN ENSG00000169371 -607903 phenotype -607904 gene 8912 CACNA1H ENSG00000196557 -607905 gene 85365 ALG2 ENSG00000119523 -607906 phenotype -607907 phenotype -607908 gene 55679 LIMS2 ENSG00000072163 -607909 gene 51582 AZIN1 ENSG00000155096 -607910 gene 64147 KIF9 ENSG00000088727 -607911 gene 9852 EPM2AIP1 ENSG00000178567 -607912 gene 51714 SELENOT ENSG00000198843 -607913 gene 257202 GPX6 ENSG00000198704 -607914 gene 280636 SELENOH ENSG00000211450 -607915 gene 85465 SELENOI ENSG00000138018 -607916 gene 58515 SELENOK ENSG00000113811 -607917 gene 83642 SELENOO ENSG00000073169 -607918 gene 55829 SELENOS ENSG00000131871 -607919 gene 348303 SELENOV ENSG00000186838 -607920 moved/removed -607921 phenotype -607922 gene 53947 A4GALT ENSG00000128274 -607923 gene 9892 SNAP91 ENSG00000065609 -607924 gene 378938 MALAT1 ENSG00000251562 -607925 gene 151888 BTLA ENSG00000186265 -607926 gene 29915 HCFC2 ENSG00000111727 -607927 gene 51479 ANKFY1 ENSG00000185722 -607928 gene 25861 WHRN ENSG00000095397 -607929 gene 83605 CCM2 ENSG00000136280 -607930 gene 54360 CYTL1 ENSG00000170891 -607931 gene 11273 ATXN2L ENSG00000168488 -607932 phenotype -607933 gene 23657 SLC7A11 ENSG00000151012 -607934 gene 29943 PADI1 ENSG00000142623 -607935 gene 11240 PADI2 ENSG00000117115 -607936 phenotype -607937 gene 79923 NANOG ENSG00000111704 -607938 gene 50863 NTM ENSG00000182667 -607939 gene 285362 SUMF1 ENSG00000144455 -607940 gene 25870 SUMF2 ENSG00000129103 -607941 phenotype -607942 gene 118788 PIK3AP1 ENSG00000155629 -607943 gene 10156 RASA4 ENSG00000105808 -607944 phenotype -607945 gene 51094 ADIPOR1 ENSG00000159346 -607946 gene 79602 ADIPOR2 ENSG00000006831 -607947 gene 283518 KCNRG ENSG00000198553 -607948 phenotype -607949 phenotype 404716 -607950 gene 29122 PRSS50 ENSG00000283706 -607951 gene 9702 CEP57 ENSG00000166037 -607952 gene 6538 SLC6A11 ENSG00000132164 -607953 gene 29114 TAGLN3 ENSG00000144834 -607954 gene 29098 RANGRF ENSG00000108961 -607955 gene 23328 SASH1 ENSG00000111961 -607956 gene 112950 MED8 ENSG00000159479 -607957 gene 57118 CAMK1D ENSG00000183049 -607958 gene 29091 STXBP6 ENSG00000168952 -607959 gene 56301 SLC7A10 ENSG00000130876 -607960 gene 55760 DHX32 ENSG00000089876 -607961 gene 8482 SEMA7A ENSG00000138623 -607962 gene 407010 MIR23A ENSG00000207980 -607963 gene 85509 MBD3L1 ENSG00000170948 -607964 gene 125997 MBD3L2 ENSG00000230522 -607965 phenotype 192677 -607966 phenotype 192679 -607967 phenotype 282849 -607968 gene 27241 BBS9 ENSG00000122507 -607969 gene 57396 CLK4 ENSG00000113240 -607970 gene 64582 GPR135 ENSG00000181619 -607971 gene 55117 SLC6A15 ENSG00000072041 -607972 gene 28968 SLC6A16 ENSG00000063127 -607973 gene 81832 NETO1 ENSG00000166342 -607974 gene 81831 NETO2 ENSG00000171208 -607975 gene 29948 OSGIN1 ENSG00000140961 -607976 gene 84701 COX4I2 ENSG00000131055 -607977 gene 51696 HECA ENSG00000112406 -607978 gene 64092 SAMSN1 ENSG00000155307 -607979 gene 94009 SERHL ENSG00000172250 -607980 gene 54543 TOMM7 ENSG00000196683 -607981 gene 51667 NUB1 ENSG00000013374 -607982 gene 57410 SCYL1 ENSG00000142186 -607983 gene 92344 GORAB ENSG00000120370 -607984 gene 81848 SPRY4 ENSG00000187678 -607985 gene 51172 NAGPA ENSG00000103174 -607986 gene 57402 S100A14 ENSG00000189334 -607987 gene 54431 DNAJC10 ENSG00000077232 -607988 gene 9806 SPOCK2 ENSG00000107742 -607989 gene 50859 SPOCK3 ENSG00000196104 -607990 gene 29128 UHRF1 ENSG00000276043 -607991 gene 6547 SLC8A3 ENSG00000100678 -607992 gene 57794 SUGP1 ENSG00000105705 -607993 gene 10147 SUGP2 ENSG00000064607 -607994 gene 54464 XRN1 ENSG00000114127 -607995 gene 54346 UNC93A ENSG00000112494 -607996 gene 256933 NPB ENSG00000183979 -607997 gene 283869 NPW ENSG00000183971 -607998 gene 1200 TPP1 ENSG00000166340 -607999 gene 55870 ASH1L ENSG00000116539 -608000 gene 80155 NAA15 ENSG00000164134 -608001 moved/removed -608002 gene 27031 NPHP3 ENSG00000113971 -608003 gene 204851 HIPK1 ENSG00000163349 -608004 gene 64332 NFKBIZ ENSG00000144802 -608005 gene 64374 SIL1 ENSG00000120725 -608006 gene 442721 LMOD2 ENSG00000170807 -608007 gene 26499 PLEK2 ENSG00000100558 -608008 gene 11199 ANXA10 ENSG00000109511 -608009 gene 26289 AK5 ENSG00000154027 -608010 gene 29881 NPC1L1 ENSG00000015520 -608011 gene 26354 GNL3 ENSG00000163938 -608012 gene 64714 PDIA2 ENSG00000185615 -608013 phenotype -608014 gene 26353 HSPB8 ENSG00000152137 -608015 gene 25987 TSKU ENSG00000182704 -608016 gene 51287 COA4 ENSG00000181924 -608017 gene 26355 FAM162A ENSG00000114023 -608018 gene 83886 PRSS27 ENSG00000172382 -608019 gene 79931 TNIP3 ENSG00000050730 -608020 gene 4925 NUCB2 ENSG00000070081 -608021 gene 117166 WFIKKN1 ENSG00000127578 -608022 phenotype -608023 gene 54606 DDX56 ENSG00000136271 -608024 gene 10455 ECI2 ENSG00000198721 -608025 gene 51594 NBAS ENSG00000151779 -608026 phenotype 574045 -608027 phenotype -608028 predominantly phenotypes -608029 phenotype 1167 -608030 phenotype -608031 phenotype 406238 -608032 moved/removed -608033 phenotype -608034 gene 443 ASPA ENSG00000108381 -608035 phenotype 474388 -608036 phenotype 100188782 -608037 gene 54480 CHPF2 ENSG00000033100 -608038 gene 57144 PAK5 ENSG00000101349 -608039 gene 83890 SPATA9 ENSG00000145757 -608040 gene 80173 IFT74 ENSG00000096872 -608041 gene 118429 ANTXR2 ENSG00000163297 -608042 gene 84958 SYTL1 ENSG00000142765 -608043 gene 55568 GALNT10 ENSG00000164574 -608044 gene 160728 SLC5A8 ENSG00000256870 -608045 phenotype 404685 -608046 gene 84447 SYVN1 ENSG00000162298 -608047 gene 89910 UBE3B ENSG00000151148 -608048 gene 257218 SHPRH ENSG00000146414 -608049 phenotype 387577 -608050 gene 27348 TOR1B ENSG00000136816 -608051 phenotype -608052 gene 27433 TOR2A ENSG00000160404 -608053 gene 2108 ETFA ENSG00000140374 -608054 gene 1549 CYP2A7 ENSG00000198077 -608055 gene 1553 CYP2A13 ENSG00000197838 -608056 moved/removed -608057 gene 58511 DNASE2B ENSG00000137976 -608058 gene 57818 G6PC2 ENSG00000152254 -608059 gene 84667 HES7 ENSG00000179111 -608060 gene 57801 HES4 ENSG00000188290 -608061 gene 10452 TOMM40 ENSG00000130204 -608062 gene 341019 DCDC1 ENSG00000170959 -608063 predominantly phenotypes -608064 gene 51088 KLHL5 ENSG00000109790 -608065 gene 55089 SLC38A4 ENSG00000139209 -608066 gene 9667 SAFB2 ENSG00000130254 -608067 gene 64326 COP1 ENSG00000143207 -608068 phenotype -608069 gene 54206 ERRFI1 ENSG00000116285 -608070 gene 9709 HERPUD1 ENSG00000051108 -608071 gene 6468 FBXW4 ENSG00000107829 -608072 gene 378884 NHLRC1 ENSG00000187566 -608073 gene 10361 NPM2 ENSG00000158806 -608074 gene 10015 PDCD6IP ENSG00000170248 -608075 gene 89869 PLCZ1 ENSG00000139151 -608076 gene 8711 TNK1 ENSG00000174292 -608077 gene 9127 P2RX6 ENSG00000099957 -608078 phenotype 404686 -608079 gene 55520 ELAC1 ENSG00000141642 -608080 gene 83876 MRO ENSG00000134042 -608081 gene 83849 SYT15 ENSG00000204176 -608082 gene 29799 YPEL1 ENSG00000100027 -608083 gene 344 APOC2 ENSG00000234906 -608084 gene 170575 GIMAP1 ENSG00000213203 -608085 gene 26157 GIMAP2 ENSG00000106560 -608086 gene 55340 GIMAP5 ENSG00000196329 -608087 gene 55303 GIMAP4 ENSG00000133574 -608088 phenotype 378888 -608089 phenotype -608090 gene 22877 MLXIP ENSG00000175727 -608091 phenotype -608092 gene 23022 PALLD ENSG00000129116 -608093 phenotype -608094 gene 54020 SLC37A1 ENSG00000160190 -608095 gene 79005 SCNM1 ENSG00000163156 -608096 phenotype 619399 -608097 phenotype -608098 phenotype 100302681 -608099 phenotype -608100 gene 27247 NFU1 ENSG00000169599 -608101 gene 373861 H1-9P -608102 gene 1203 CLN5 ENSG00000102805 -608103 gene 79053 ALG8 ENSG00000159063 -608104 phenotype -608105 phenotype -608106 phenotype -608107 gene 4210 MEFV ENSG00000103313 -608108 gene 10428 CFDP1 ENSG00000153774 -608109 gene 80324 PUS1 ENSG00000177192 -608110 gene 56924 PAK6 ENSG00000137843 -608111 gene 55120 FANCL ENSG00000115392 -608112 gene 22906 TRAK1 ENSG00000182606 -608113 gene 137868 SGCZ ENSG00000185053 -608114 gene 11033 ADAP1 ENSG00000105963 -608115 phenotype -608116 gene 57467 HHATL ENSG00000010282 -608117 gene 9659 PDE4DIP ENSG00000178104 -608118 phenotype -608119 gene 57594 HOMEZ ENSG00000215271 -608120 gene 55742 PARVA ENSG00000197702 -608121 gene 29780 PARVB ENSG00000188677 -608122 gene 64098 PARVG ENSG00000138964 -608123 gene 10005 ACOT8 ENSG00000101473 -608124 gene 64131 XYLT1 ENSG00000103489 -608125 gene 64132 XYLT2 ENSG00000015532 -608126 gene 11169 WDHD1 ENSG00000198554 -608127 gene 80714 PBX4 ENSG00000105717 -608128 moved/removed -608129 gene 10422 UBAC1 ENSG00000130560 -608130 gene 9891 NUAK1 ENSG00000074590 -608131 gene 81788 NUAK2 ENSG00000163545 -608132 gene 123016 TTC8 ENSG00000165533 -608133 phenotype -608134 gene 5064 PALM ENSG00000099864 -608135 gene 54829 ASPN ENSG00000106819 -608136 gene 9639 ARHGEF10 ENSG00000104728 -608137 gene 26012 NSMF ENSG00000165802 -608138 gene 10081 PDCD7 ENSG00000090470 -608139 gene 201161 CENPV ENSG00000166582 -608140 gene 129401 NUP35 ENSG00000163002 -608141 gene 348995 NUP43 ENSG00000120253 -608142 gene 150274 HSCB ENSG00000100209 -608143 gene 137964 GPAT4 ENSG00000158669 -608144 gene 25803 SPDEF ENSG00000124664 -608145 gene 123606 NIPA1 ENSG00000170113 -608146 gene 81614 NIPA2 ENSG00000140157 -608147 gene 114791 TUBGCP5 ENSG00000275835 -608148 gene 23314 SATB2 ENSG00000119042 -608149 phenotype -608150 gene 51535 PPHLN1 ENSG00000134283 -608151 gene 57728 WDR19 ENSG00000157796 -608152 gene 80142 PTGES2 ENSG00000148334 -608153 gene 94274 PPP1R14A ENSG00000167641 -608154 phenotype -608155 gene 11346 SYNPO ENSG00000171992 -608156 phenotype -608157 gene 83884 SLC25A2 ENSG00000120329 -608158 phenotype -608159 gene 10942 PRSS21 ENSG00000007038 -608160 gene 6662 SOX9 ENSG00000125398 -608161 phenotype -608162 gene 79679 VTCN1 ENSG00000134258 -608163 gene 23265 EXOC7 ENSG00000182473 -608164 gene 27012 KCNV1 ENSG00000164794 -608165 gene 51454 GULP1 ENSG00000144366 -608166 gene 9723 SEMA3E ENSG00000170381 -608167 gene 57582 KCNT1 ENSG00000107147 -608168 gene 81033 KCNH6 ENSG00000173826 -608169 gene 90134 KCNH7 ENSG00000184611 -608170 gene 51428 DDX41 ENSG00000183258 -608171 gene 93589 CACNA2D4 ENSG00000151062 -608172 gene 79947 DHDDS ENSG00000117682 -608173 phenotype 387578 -608174 phenotype 387579 -608175 phenotype -608176 phenotype 387581 -608177 gene 2131 EXT1 ENSG00000182197 -608178 gene 338645 LUZP2 ENSG00000187398 -608179 gene 85300 ATCAY ENSG00000167654 -608180 phenotype -608181 gene 51324 SPG21 ENSG00000090487 -608182 gene 80333 KCNIP4 ENSG00000185774 -608183 gene 22856 CHSY1 ENSG00000131873 -608184 predominantly phenotypes -608185 gene 60412 EXOC4 ENSG00000131558 -608186 gene 11336 EXOC3 ENSG00000180104 -608187 gene 84515 MCM8 ENSG00000125885 -608188 gene 54675 CRLS1 ENSG00000088766 -608189 phenotype -608190 gene 51471 NAT8B ENSG00000204872 -608191 gene 57786 RBAK ENSG00000146587 -608192 gene 57147 SCYL3 ENSG00000000457 -608193 gene 9985 REC8 ENSG00000100918 -608194 phenotype -608195 gene 55227 LRRC1 ENSG00000137269 -608196 gene 56897 WRNIP1 ENSG00000124535 -608197 gene 114771 PGLYRP3 ENSG00000159527 -608198 gene 57115 PGLYRP4 ENSG00000163218 -608199 gene 114770 PGLYRP2 ENSG00000161031 -608200 gene 51654 CDK5RAP1 ENSG00000101391 -608201 gene 55755 CDK5RAP2 ENSG00000136861 -608202 gene 80279 CDK5RAP3 ENSG00000108465 -608203 phenotype -608204 gene 81622 UNC93B1 ENSG00000110057 -608205 gene 51102 MECR ENSG00000116353 -608206 gene 79628 SH3TC2 ENSG00000169247 -608207 phenotype 387582 -608208 gene 57574 MARCHF4 ENSG00000144583 -608209 gene 57628 DPP10 ENSG00000175497 -608210 gene 2132 EXT2 ENSG00000151348 -608211 gene 353219 KAAG1 -608212 gene 345611 IRGM ENSG00000237693 -608213 gene 51286 CEND1 ENSG00000184524 -608214 gene 55800 SCN3B ENSG00000166257 -608215 gene 26468 LHX6 ENSG00000106852 -608216 gene 28991 COMMD5 ENSG00000170619 -608217 phenotype -608218 gene 54474 KRT20 ENSG00000171431 -608219 phenotype 337991 -608220 phenotype 387583 -608221 gene 84930 MASTL ENSG00000120539 -608222 gene 158 ADSL ENSG00000239900 -608223 predominantly phenotypes -608224 phenotype -608225 gene 79623 GALNT14 ENSG00000158089 -608226 gene 340719 NANOS1 ENSG00000188613 -608227 predominantly phenotypes -608228 gene 339345 NANOS2 ENSG00000188425 -608229 gene 342977 NANOS3 ENSG00000187556 -608230 gene 8911 CACNA1I ENSG00000100346 -608231 gene 11228 RASSF8 ENSG00000123094 -608232 phenotype -608233 phenotype -608234 gene 89792 GAL3ST3 ENSG00000175229 -608235 gene 79690 GAL3ST4 ENSG00000197093 -608236 phenotype -608237 gene 64090 GAL3ST2 ENSG00000154252 -608238 gene 84888 SPPL2A ENSG00000138600 -608239 gene 56928 SPPL2B ENSG00000005206 -608240 gene 121665 SPPL3 ENSG00000157837 -608241 gene 79753 SNIP1 ENSG00000163877 -608242 gene 51191 HERC5 ENSG00000138646 -608243 gene 56160 NSMCE3 ENSG00000185115 -608244 phenotype 170532 -608245 gene 112802 KRT71 ENSG00000139648 -608246 gene 140807 KRT72 ENSG00000170486 -608247 gene 319101 KRT73 ENSG00000186049 -608248 gene 121391 KRT74 ENSG00000170484 -608249 gene 57820 CCNB1IP1 ENSG00000100814 -608250 gene 64426 SUDS3 ENSG00000111707 -608251 phenotype 404684 -608252 gene 60312 AFAP1 ENSG00000196526 -608253 gene 60385 TSKS ENSG00000126467 -608254 gene 22976 PAXIP1 ENSG00000157212 -608255 gene 80342 TRAF3IP3 ENSG00000009790 -608256 gene 6330 SCN4B ENSG00000177098 -608257 predominantly phenotypes -608258 gene 91039 DPP9 ENSG00000142002 -608259 gene 10643 IGF2BP3 ENSG00000136231 -608260 gene 131096 KCNH8 ENSG00000183960 -608261 gene 59343 SENP2 ENSG00000163904 -608262 gene 729582 DIRC3 -608263 gene 79663 HSPBAP1 ENSG00000169087 -608264 phenotype 379003 -608265 phenotype -608266 phenotype -608267 gene 64121 RRAGC ENSG00000116954 -608268 gene 58528 RRAGD ENSG00000025039 -608269 gene 64078 SLC28A3 ENSG00000197506 -608270 gene 55617 TASP1 ENSG00000089123 -608271 gene 23499 MACF1 ENSG00000127603 -608272 gene 4758 NEU1 ENSG00000204386 -608273 gene 246778 IL27 ENSG00000197272 -608274 gene 55170 PRMT6 ENSG00000198890 -608275 gene 55356 SLC22A15 ENSG00000163393 -608276 gene 85413 SLC22A16 ENSG00000004809 -608277 gene 51363 CHST15 ENSG00000182022 -608278 predominantly phenotypes -608279 predominantly phenotypes -608280 gene 60674 GAS5 ENSG00000234741 -608281 predominantly phenotypes -608282 gene 134860 TAAR9 ENSG00000237110 -608283 gene 55605 KIF21A ENSG00000139116 -608284 gene 162540 SPPL2C ENSG00000185294 -608285 gene 55191 NADSYN1 ENSG00000172890 -608286 gene 57575 PCDH10 ENSG00000138650 -608287 gene 54510 PCDH18 ENSG00000189184 -608288 gene 10642 IGF2BP1 ENSG00000159217 -608289 gene 10644 IGF2BP2 ENSG00000073792 -608290 phenotype -608291 gene 150465 TTL ENSG00000114999 -608292 gene 30968 STOML2 ENSG00000165283 -608293 gene 55114 ARHGAP17 ENSG00000140750 -608294 gene 10201 NME6 ENSG00000172113 -608295 gene 11170 FAM107A ENSG00000168309 -608296 gene 9158 FIBP ENSG00000172500 -608297 moved/removed -608298 gene 151887 CCDC80 ENSG00000091986 -608299 gene 80196 RNF34 ENSG00000170633 -608300 gene 162417 NAGS ENSG00000161653 -608301 gene 55203 LGI2 ENSG00000153012 -608302 gene 203190 LGI3 ENSG00000168481 -608303 gene 163175 LGI4 ENSG00000153902 -608304 gene 285782 CAGE1 ENSG00000164304 -608305 gene 284111 SLC13A5 ENSG00000141485 -608306 gene 221833 SP8 ENSG00000164651 -608307 gene 1373 CPS1 ENSG00000021826 -608308 gene 80325 ABTB1 ENSG00000114626 -608309 gene 65018 PINK1 ENSG00000158828 -608310 gene 435 ASL ENSG00000126522 -608311 gene 339970 POLR2MP1 -608312 gene 221830 POLR1F ENSG00000105849 -608313 gene 383 ARG1 ENSG00000118520 -608314 gene 55964 SEPTIN3 ENSG00000100167 -608315 gene 85403 EAF1 ENSG00000144597 -608316 phenotype 387584 -608317 gene 57822 GRHL3 ENSG00000158055 -608318 phenotype 387585 -608319 moved/removed -608320 phenotype -608321 gene 353376 TICAM2 ENSG00000243414 -608322 gene 23046 KIF21B ENSG00000116852 -608323 phenotype -608324 gene 85027 SMIM3 ENSG00000256235 -608325 gene 51317 PHF21A ENSG00000135365 -608326 gene 9399 STOML1 ENSG00000067221 -608327 gene 161003 STOML3 ENSG00000133115 -608328 phenotype -608329 gene 745 MYRF ENSG00000124920 -608330 gene 27339 PRPF19 ENSG00000110107 -608331 gene 153201 SLC36A2 ENSG00000186335 -608332 gene 285641 SLC36A3 ENSG00000186334 -608333 gene 55715 DOK4 ENSG00000125170 -608334 gene 55816 DOK5 ENSG00000101134 -608335 gene 51177 PLEKHO1 ENSG00000023902 -608336 gene 131601 TPRA1 ENSG00000163870 -608337 gene 55611 OTUB1 ENSG00000167770 -608338 gene 78990 OTUB2 ENSG00000089723 -608339 gene 6814 STXBP3 ENSG00000116266 -608340 phenotype -608341 gene 51706 CYB5R1 ENSG00000159348 -608342 gene 51700 CYB5R2 ENSG00000166394 -608343 gene 51167 CYB5R4 ENSG00000065615 -608344 gene 94086 HSPB9 ENSG00000260325 -608345 phenotype 4934 -608346 moved/removed -608347 gene 51181 DCXR ENSG00000169738 -608348 gene 593 BCKDHA ENSG00000248098 -608349 gene 84941 HSH2D ENSG00000196684 -608350 gene 51705 EMCN ENSG00000164035 -608351 gene 152404 IGSF11 ENSG00000144847 -608352 gene 84519 ACRBP ENSG00000111644 -608353 gene 113451 AZIN2 ENSG00000142920 -608354 phenotype -608355 moved/removed -608356 gene 113746 ODF3 ENSG00000177947 -608357 gene 27233 SULT1C4 ENSG00000198075 -608358 phenotype -608359 gene 25830 SULT4A1 ENSG00000130540 -608360 gene 56262 LRRC8A ENSG00000136802 -608361 phenotype -608362 gene 50861 STMN3 ENSG00000197457 -608363 phenotype -608364 gene 51474 LIMA1 ENSG00000050405 -608365 gene 140290 TCP10L ENSG00000242220 -608366 gene 57214 CEMIP ENSG00000103888 -608367 phenotype 100359401 -608368 gene 144715 RAD9B ENSG00000151164 -608369 gene 114805 GALNT13 ENSG00000144278 -608370 gene 79966 SCD5 ENSG00000145284 -608371 phenotype 474387 -608372 phenotype 317664 -608373 gene 23546 SYNGR4 ENSG00000105467 -608374 gene 148738 HJV ENSG00000168509 -608375 gene 9829 DNAJC6 ENSG00000116675 -608376 gene 54788 DNAJB12 ENSG00000148719 -608377 gene 55738 ARFGAP1 ENSG00000101199 -608378 gene 9147 NEMF ENSG00000165525 -608379 gene 9034 CCRL2 ENSG00000121797 -608380 phenotype -608381 gene 375298 CERKL ENSG00000188452 -608382 gene 9093 DNAJA3 ENSG00000103423 -608383 gene 56896 DPYSL5 ENSG00000157851 -608384 gene 56169 GSDMC ENSG00000147697 -608385 gene 84951 TNS4 ENSG00000131746 -608386 gene 113091 PTH2 ENSG00000142538 -608387 gene 7760 ZNF213 ENSG00000085644 -608388 gene 51295 ECSIT ENSG00000130159 -608389 phenotype -608390 phenotype -608391 phenotype 378426 -608392 phenotype 378427 -608393 phenotype -608394 phenotype 192676 -608395 moved/removed -608396 gene 285195 SLC9A9 ENSG00000181804 -608397 gene 64478 CSMD1 ENSG00000183117 -608398 gene 114784 CSMD2 ENSG00000121904 -608399 gene 114788 CSMD3 ENSG00000164796 -608400 gene 7399 USH2A ENSG00000042781 -608401 gene 643680 MS4A4E ENSG00000214787 -608402 gene 245802 MS4A6E ENSG00000166926 -608403 gene 341116 MS4A10 ENSG00000172689 -608404 phenotype -608405 gene 84680 ACCS ENSG00000110455 -608406 predominantly phenotypes -608407 gene 10570 DPYSL4 ENSG00000151640 -608408 gene 359787 DPPA3 ENSG00000187569 -608409 gene 84419 C15orf48 ENSG00000166920 -608410 phenotype 404683 -608411 gene 23214 XPO6 ENSG00000169180 -608412 gene 65056 GPBP1 ENSG00000062194 -608413 gene 51366 UBR5 ENSG00000104517 -608414 gene 51196 PLCE1 ENSG00000138193 -608415 phenotype -608416 gene 118856 MMP21 ENSG00000154485 -608417 gene 79148 MMP28 ENSG00000271447 -608418 gene 23176 SEPTIN8 ENSG00000164402 -608419 gene 84693 MCEE ENSG00000124370 -608420 gene 24145 PANX1 ENSG00000110218 -608421 gene 56666 PANX2 ENSG00000073150 -608422 gene 116337 PANX3 ENSG00000154143 -608423 phenotype -608424 gene 140453 MUC17 ENSG00000169876 -608425 gene 64122 FN3K ENSG00000167363 -608426 gene 23609 MKRN2 ENSG00000075975 -608427 gene 135138 PACRG ENSG00000112530 -608428 gene 340665 CYP26C1 ENSG00000187553 -608429 gene 113189 CHST14 ENSG00000169105 -608430 gene 26133 TRPC4AP ENSG00000100991 -608431 gene 10146 G3BP1 ENSG00000145907 -608432 predominantly phenotypes -608433 gene 10472 ZBTB18 ENSG00000179456 -608434 gene 28964 GIT1 ENSG00000108262 -608435 gene 22808 MRAS ENSG00000158186 -608436 gene 27284 SULT1B1 ENSG00000173597 -608437 phenotype 404714 -608438 gene 9874 TLK1 ENSG00000198586 -608439 gene 11011 TLK2 ENSG00000146872 -608440 gene 114294 LACTB ENSG00000103642 -608441 gene 23345 SYNE1 ENSG00000131018 -608442 gene 23224 SYNE2 ENSG00000054654 -608443 phenotype -608444 gene 55904 KMT2E ENSG00000005483 -608445 phenotype 404713 -608446 phenotype -608447 phenotype 404677 -608448 phenotype 317669 -608449 gene 58155 PTBP2 ENSG00000117569 -608450 gene 338436 BLACE ENSG00000204960 -608451 gene 23474 ETHE1 ENSG00000105755 -608452 gene 56034 PDGFC ENSG00000145431 -608453 gene 23624 CBLC ENSG00000142273 -608454 moved/removed -608455 gene 5837 PYGM ENSG00000068976 -608456 phenotype -608457 gene 23492 CBX7 ENSG00000100307 -608458 gene 23154 NCDN ENSG00000020129 -608459 gene 51265 CDKL3 ENSG00000006837 -608460 gene 92822 ZNF276 ENSG00000158805 -608461 gene 85301 COL27A1 ENSG00000196739 -608462 phenotype 404719 -608463 gene 26574 AATF ENSG00000275700 -608464 gene 55109 AGGF1 ENSG00000164252 -608465 gene 23064 SETX ENSG00000107290 -608466 gene 10598 AHSA1 ENSG00000100591 -608467 gene 85439 STON2 ENSG00000140022 -608468 gene 25819 NOCT ENSG00000151014 -608469 gene 10521 DDX17 ENSG00000100201 -608470 phenotype -608471 phenotype -608472 gene 84620 ST6GAL2 ENSG00000144057 -608473 gene 64682 ANAPC1 ENSG00000153107 -608474 phenotype 404682 -608475 gene 11112 HIBADH ENSG00000106049 -608476 gene 9755 TBKBP1 ENSG00000198933 -608477 gene 22977 AKR7A3 ENSG00000162482 -608478 gene 246181 AKR7L ENSG00000211454 -608479 gene 115111 SLC26A7 ENSG00000147606 -608480 gene 116369 SLC26A8 ENSG00000112053 -608481 gene 115019 SLC26A9 ENSG00000174502 -608482 gene 64386 MMP25 ENSG00000008516 -608483 gene 64400 AKTIP ENSG00000166971 -608484 predominantly phenotypes -608485 gene 9697 TRAM2 ENSG00000065308 -608486 gene 9788 MTSS1 ENSG00000170873 -608487 gene 85363 TRIM5 ENSG00000132256 -608488 gene 64093 SMOC1 ENSG00000198732 -608489 gene 10734 STAG3 ENSG00000066923 -608490 gene 81539 SLC38A1 ENSG00000111371 -608491 gene 9988 DMTF1 ENSG00000135164 -608492 gene 338674 OR5F1 ENSG00000149133 -608493 gene 144124 OR10A5 ENSG00000166363 -608494 gene 120776 OR2D2 ENSG00000166368 -608495 gene 8590 OR6A2 ENSG00000184933 -608496 gene 10798 OR5I1 ENSG00000167825 -608497 gene 26211 OR2F1 ENSG00000213215 -608498 gene 11055 ZPBP ENSG00000042813 -608499 gene 124626 ZPBP2 ENSG00000186075 -608500 gene 144165 PRICKLE1 ENSG00000139174 -608501 gene 166336 PRICKLE2 ENSG00000163637 -608502 gene 54039 PCBP3 ENSG00000183570 -608503 gene 57060 PCBP4 ENSG00000090097 -608504 gene 22899 ARHGEF15 ENSG00000198844 -608505 moved/removed -608506 gene 55669 MFN1 ENSG00000171109 -608507 gene 9927 MFN2 ENSG00000116688 -608508 gene 1535 CYBA ENSG00000051523 -608509 predominantly phenotypes -608510 gene 117157 SH2D1B ENSG00000198574 -608511 gene 9796 PHYHIP ENSG00000168490 -608512 gene 653361 NCF1 ENSG00000158517 -608513 gene 85495 RPPH1 ENSG00000277209 -608514 gene 51390 AIG1 ENSG00000146416 -608515 gene 4688 NCF2 ENSG00000116701 -608516 phenotype -608517 gene 84665 MYPN ENSG00000138347 -608518 predominantly phenotypes -608519 gene 157574 FBXO16 ENSG00000214050 -608520 phenotype 431708 -608521 gene 10542 LAMTOR5 ENSG00000134248 -608522 gene 51773 RSF1 ENSG00000048649 -608523 gene 64150 DIO3OS ENSG00000258498 -608524 gene 51147 ING4 ENSG00000111653 -608525 gene 84289 ING5 ENSG00000168395 -608526 phenotype 406237 -608527 gene 129807 NEU4 ENSG00000204099 -608528 gene 128869 PIGU ENSG00000101464 -608529 gene 84467 FBN3 ENSG00000142449 -608530 gene 53339 BTBD1 ENSG00000064726 -608531 gene 55643 BTBD2 ENSG00000133243 -608532 gene 54892 NCAPG2 ENSG00000146918 -608533 gene 81545 FBXO38 ENSG00000145868 -608534 gene 84517 ACTRT3 ENSG00000184378 -608535 gene 140625 ACTRT2 ENSG00000169717 -608536 gene 84705 GTPBP3 ENSG00000130299 -608537 gene 7428 VHL ENSG00000134086 -608538 gene 84159 ARID5B ENSG00000150347 -608539 gene 84662 GLIS2 ENSG00000126603 -608540 phenotype -608541 gene 9743 ARHGAP32 ENSG00000134909 -608542 phenotype 449013 -608543 phenotype 619488 -608544 gene 83933 HDAC10 ENSG00000100429 -608545 phenotype 406214 -608546 gene 9775 EIF4A3 ENSG00000141543 -608547 gene 79001 VKORC1 ENSG00000167397 -608548 gene 83872 HMCN1 ENSG00000143341 -608549 gene 55823 VPS11 ENSG00000160695 -608550 gene 64601 VPS16 ENSG00000215305 -608551 gene 57617 VPS18 ENSG00000104142 -608552 gene 26276 VPS33B ENSG00000184056 -608553 phenotype -608554 gene 266743 NPAS4 ENSG00000174576 -608555 gene 10651 MTX2 ENSG00000128654 -608556 phenotype -608557 phenotype 100233226 -608558 phenotype 449016 -608559 phenotype 449017 -608560 gene 23166 STAB1 ENSG00000010327 -608561 gene 55576 STAB2 ENSG00000136011 -608562 phenotype 450096 -608563 moved/removed -608564 gene 9815 GIT2 ENSG00000139436 -608565 phenotype -608566 gene 143662 MUC15 ENSG00000169550 -608567 phenotype -608568 gene 79784 MYH14 ENSG00000105357 -608569 phenotype -608570 gene 113146 AHNAK2 ENSG00000185567 -608571 predominantly phenotypes -608572 phenotype -608573 moved/removed -608574 gene 56946 EMSY ENSG00000158636 -608575 gene 50700 RDH8 ENSG00000080511 -608576 gene 79977 GRHL2 ENSG00000083307 -608577 gene 91612 CHURC1 ENSG00000258289 -608578 moved/removed -608579 phenotype -608580 predominantly phenotypes 84176 MYH16 -608581 gene 94137 RP1L1 ENSG00000183638 -608582 gene 51162 EGFL7 ENSG00000172889 -608583 phenotype 406216 -608584 phenotype -608585 phenotype -608586 phenotype 406215 -608587 gene 84514 GHDC ENSG00000167925 -608588 gene 79132 DHX58 ENSG00000108771 -608589 gene 89886 SLAMF9 ENSG00000162723 -608590 moved/removed -608591 moved/removed -608592 gene 10217 CTDSPL ENSG00000144677 -608593 gene 81494 CFHR5 ENSG00000134389 -608594 phenotype -608595 gene 387129 NPSR1 ENSG00000187258 -608596 gene 404744 NPSR1-AS1 ENSG00000197085 -608597 gene 140825 NEURL2 ENSG00000124257 -608598 gene 255082 CASC2 ENSG00000177640 -608599 gene 22841 RAB11FIP2 ENSG00000107560 -608600 phenotype -608601 gene 64319 FBRS ENSG00000156860 -608602 gene 11262 SP140 ENSG00000079263 -608603 gene 342035 GLDN ENSG00000186417 -608604 gene 116362 RBP7 ENSG00000162444 -608605 gene 201595 STT3B ENSG00000163527 -608606 gene 168620 BHLHA15 ENSG00000180535 -608607 gene 149013 NBPF12 ENSG00000268043 -608608 gene 730262 PPIAL4E ENSG00000271567 -608609 gene 767846 PFN1P2 ENSG00000270392 -608610 gene 27250 PDCD4 ENSG00000150593 -608611 phenotype -608612 phenotype -608613 gene 80320 SP6 ENSG00000189120 -608614 gene 285440 CYP4V2 ENSG00000145476 -608615 phenotype -608616 gene 84033 OBSCN ENSG00000154358 -608617 gene 54097 FAM3B ENSG00000183844 -608618 gene 10447 FAM3C ENSG00000196937 -608619 gene 131177 FAM3D ENSG00000198643 -608620 moved/removed -608621 gene 53340 SPA17 ENSG00000064199 -608622 phenotype -608623 moved/removed -608624 predominantly phenotypes -608625 gene 51651 PTRH2 ENSG00000141378 -608626 gene 92335 STRADA ENSG00000266173 -608627 phenotype -608628 gene 79718 TBL1XR1 ENSG00000177565 -608629 phenotype -608630 gene 64221 ROBO3 ENSG00000154134 -608631 phenotype 431711 -608632 gene 406972 MIR196A1 ENSG00000210741 -608633 gene 100506742 CASP12 ENSG00000204403 -608634 phenotype -608635 gene 55803 ADAP2 ENSG00000184060 -608636 phenotype -608637 moved/removed -608638 phenotype 431710 -608639 gene 84725 PLEKHA8 ENSG00000106086 -608640 gene 92283 ZNF461 ENSG00000197808 -608641 phenotype -608642 gene 145482 PTGR2 ENSG00000140043 -608643 phenotype -608644 phenotype -608645 phenotype 347737 -608646 phenotype 408257 -608647 phenotype -608648 gene 11231 SEC63 ENSG00000025796 -608649 phenotype -608650 gene 9706 ULK2 ENSG00000083290 -608651 gene 116987 AGAP1 ENSG00000157985 -608652 phenotype 246289 -608653 phenotype -608654 phenotype -608655 gene 10052 GJC1 ENSG00000182963 -608656 phenotype 408259 -608657 gene 122953 JDP2 ENSG00000140044 -608658 phenotype 408260 -608659 gene 123228 SENP8 ENSG00000166192 -608660 gene 51141 INSIG2 ENSG00000125629 -608661 gene 127435 PODN ENSG00000174348 -608662 gene 203859 ANO5 ENSG00000171714 -608663 gene 196527 ANO6 ENSG00000177119 -608664 moved/removed -608665 gene 29893 PSMC3IP ENSG00000131470 -608666 gene 55670 PEX26 ENSG00000215193 -608667 gene 25836 NIPBL ENSG00000164190 -608668 gene 10771 ZMYND11 ENSG00000015171 -608669 gene 54796 BNC2 ENSG00000173068 -608670 predominantly phenotypes -608671 gene 22873 DZIP1 ENSG00000134874 -608672 gene 9666 DZIP3 ENSG00000198919 -608673 phenotype -608674 gene 152503 SH3D19 ENSG00000109686 -608675 gene 197258 FCSK ENSG00000157353 -608676 gene 200081 TXLNA ENSG00000084652 -608677 gene 57534 MIB1 ENSG00000101752 -608678 gene 90865 IL33 ENSG00000137033 -608679 gene 112858 TP53RK ENSG00000172315 -608680 gene 51002 TPRKB ENSG00000144034 -608681 phenotype -608682 gene 79924 ADM2 ENSG00000128165 -608683 gene 10047 CST8 ENSG00000125815 -608684 gene 51199 NIN ENSG00000100503 -608685 gene 27127 SMC1B ENSG00000077935 -608686 gene 117177 RAB3IP ENSG00000127328 -608687 phenotype -608688 phenotype -608689 gene 55897 MESP1 ENSG00000166823 -608690 gene 117178 SSX2IP ENSG00000117155 -608691 phenotype 431709 -608692 gene 8548 BLZF1 ENSG00000117475 -608693 gene 26003 GORASP2 ENSG00000115806 -608694 gene 90441 ZNF622 ENSG00000173545 -608695 phenotype 574078 -608696 phenotype 574077 -608697 gene 344018 FIGLA ENSG00000183733 -608698 gene 131566 DCBLD2 ENSG00000057019 -608699 gene 168667 BMPER ENSG00000164619 -608700 gene 64802 NMNAT1 ENSG00000173614 -608701 gene 23057 NMNAT2 ENSG00000157064 -608702 gene 349565 NMNAT3 ENSG00000163864 -608703 phenotype 338435 -608704 gene 54981 NMRK1 ENSG00000106733 -608705 gene 27231 NMRK2 ENSG00000077009 -608706 gene 161582 DNAAF4 ENSG00000256061 -608707 gene 50937 CDON ENSG00000064309 -608708 gene 91653 BOC ENSG00000144857 -608709 phenotype -608710 phenotype 474168 -608711 gene 10106 CTDSP2 ENSG00000175215 -608712 gene 11122 PTPRT ENSG00000196090 -608713 gene 120227 CYP2R1 ENSG00000186104 -608714 gene 54212 SNTG1 ENSG00000147481 -608715 gene 54221 SNTG2 ENSG00000172554 -608716 phenotype -608717 gene 29124 LGALS13 ENSG00000105198 -608718 gene 140258 KRTAP13-1 ENSG00000198390 -608719 gene 126382 NR2C2AP ENSG00000184162 -608720 predominantly phenotypes -608721 gene 94032 CAMK2N2 ENSG00000163888 -608722 gene 93661 CAPZA3 ENSG00000177938 -608723 gene 221692 PHACTR1 ENSG00000112137 -608724 gene 9749 PHACTR2 ENSG00000112419 -608725 gene 116154 PHACTR3 ENSG00000087495 -608726 gene 65979 PHACTR4 ENSG00000204138 -608727 gene 55070 DET1 ENSG00000140543 -608728 phenotype -608729 gene 57085 AGTRAP ENSG00000177674 -608730 gene 283375 SLC39A5 ENSG00000139540 -608731 gene 25800 SLC39A6 ENSG00000141424 -608732 gene 64116 SLC39A8 ENSG00000138821 -608733 gene 57181 SLC39A10 ENSG00000196950 -608734 gene 221074 SLC39A12 ENSG00000148482 -608735 gene 91252 SLC39A13 ENSG00000165915 -608736 gene 23516 SLC39A14 ENSG00000104635 -608737 gene 80223 RAB11FIP1 ENSG00000156675 -608738 gene 9727 RAB11FIP3 ENSG00000090565 -608739 gene 90459 ERI1 ENSG00000104626 -608740 gene 150372 NFAM1 ENSG00000235568 -608741 gene 23208 SYT11 ENSG00000132718 -608742 phenotype 444980 -608743 gene 126306 JSRP1 ENSG00000167476 -608744 gene 29957 SLC25A24 ENSG00000085491 -608745 gene 114789 SLC25A25 ENSG00000148339 -608746 gene 79085 SLC25A23 ENSG00000125648 -608747 phenotype -608748 gene 27302 BMP10 ENSG00000163217 -608749 gene 23476 BRD4 ENSG00000141867 -608750 gene 10195 ALG3 ENSG00000214160 -608751 phenotype -608752 gene 114902 C1QTNF5 ENSG00000223953 -608753 gene 80746 TSEN2 ENSG00000154743 -608754 gene 79042 TSEN34 ENSG00000170892 -608755 gene 283989 TSEN54 ENSG00000182173 -608756 gene 116461 TSEN15 ENSG00000198860 -608757 gene 10978 CLP1 ENSG00000172409 -608758 phenotype -608759 gene 114757 CYGB ENSG00000161544 -608760 gene 10533 ATG7 ENSG00000197548 -608761 gene 60482 SLC5A7 ENSG00000115665 -608762 phenotype 432400 -608763 predominantly phenotypes -608764 gene 10135 NAMPT ENSG00000105835 -608765 phenotype -608766 gene 53353 LRP1B ENSG00000168702 -608767 gene 56929 FEM1C ENSG00000145780 -608768 phenotype -608769 gene 8050 PDHX ENSG00000110435 -608770 gene 1737 DLAT ENSG00000150768 -608771 gene 23389 MED13L ENSG00000123066 -608772 gene 60672 MIIP ENSG00000116691 -608773 gene 11076 TPPP ENSG00000171368 -608774 gene 255239 ANKK1 ENSG00000170209 -608775 gene 115106 HAUS1 ENSG00000152240 -608776 phenotype -608777 gene 10631 POSTN ENSG00000133110 -608778 gene 317719 KLHL10 ENSG00000161594 -608779 phenotype -608780 gene 404672 GTF2H5 ENSG00000272047 -608781 phenotype 449015 -608782 phenotype -608783 gene 64754 SMYD3 ENSG00000185420 -608784 gene 29801 ZDHHC8 ENSG00000099904 -608785 gene 94031 HTRA3 ENSG00000170801 -608786 gene 5091 PC ENSG00000173599 -608787 phenotype 317682 -608788 gene 30837 SOCS7 ENSG00000274211 -608789 gene 344148 NCKAP5 ENSG00000176771 -608790 gene 93624 TADA2B ENSG00000173011 -608791 gene 115861 NXNL1 ENSG00000171773 -608792 gene 126326 GIPC3 ENSG00000179855 -608793 gene 92521 SPECC1 ENSG00000128487 -608794 gene 9600 PITPNM1 ENSG00000110697 -608795 gene 113026 PLCD3 ENSG00000161714 -608796 phenotype 493818 -608797 gene 150365 MEI1 ENSG00000167077 -608798 gene 1687 GSDME ENSG00000105928 -608799 phenotype -608800 phenotype -608801 gene 2639 GCDH ENSG00000105607 -608802 gene 26013 L3MBTL1 ENSG00000185513 -608803 gene 57165 GJC2 ENSG00000198835 -608804 phenotype -608805 phenotype -608806 gene 254827 NAALADL2 ENSG00000177694 -608807 phenotype -608808 predominantly phenotypes -608809 predominantly phenotypes -608810 phenotype -608811 predominantly phenotypes -608812 phenotype -608813 gene 79139 DERL1 ENSG00000136986 -608814 predominantly phenotypes -608815 gene 114327 EFHC1 ENSG00000096093 -608816 phenotype 449018 -608817 gene 57689 LRRC4C ENSG00000148948 -608818 gene 22854 NTNG1 ENSG00000162631 -608819 gene 81851 KRTAP1-1 ENSG00000188581 -608820 gene 81850 KRTAP1-3 ENSG00000221880 -608821 gene 728255 KRTAP1-4 ENSG00000204887 -608822 gene 83895 KRTAP1-5 ENSG00000221852 -608823 gene 114335 CGB1 ENSG00000267631 -608824 gene 114336 CGB2 ENSG00000104818 -608825 gene 93659 CGB5 ENSG00000189052 -608826 gene 94027 CGB7 ENSG00000196337 -608827 gene 94115 CGB8 ENSG00000213030 -608828 gene 29102 DROSHA ENSG00000113360 -608829 gene 387082 SUMO4 ENSG00000177688 -608830 gene 145226 RDH12 ENSG00000139988 -608831 phenotype 450097 -608832 gene 64388 GREM2 ENSG00000180875 -608833 gene 51750 RTEL1 ENSG00000258366 -608834 gene 64764 CREB3L2 ENSG00000182158 -608835 gene 150000 ABCC13 ENSG00000243064 -608836 phenotype -608837 phenotype -608838 gene 154807 VKORC1L1 ENSG00000196715 -608839 gene 147968 CAPN12 ENSG00000182472 -608840 phenotype -608841 gene 27151 CPAMD8 ENSG00000160111 -608842 gene 118487 CHCHD1 ENSG00000172586 -608843 gene 114990 VASN ENSG00000168140 -608844 gene 79661 NEIL1 ENSG00000140398 -608845 gene 84100 ARL6 ENSG00000113966 -608846 gene 126129 CPT1C ENSG00000169169 -608847 gene 94033 FTMT ENSG00000181867 -608848 gene 54874 FNBP1L ENSG00000137942 -608849 gene 127933 UHMK1 ENSG00000152332 -608850 phenotype 317668 -608851 gene 22803 XRN2 ENSG00000088930 -608852 phenotype 450095 -608853 gene 414899 BLID ENSG00000259571 -608854 gene 127700 OSCP1 ENSG00000116885 -608855 gene 94015 TTYH2 ENSG00000141540 -608856 gene 64693 CTAGE1 ENSG00000212710 -608857 gene 220112 CTAGE3P ENSG00000232872 -608858 gene 26127 FGFR1OP2 ENSG00000111790 -608859 gene 135228 CD109 ENSG00000156535 -608860 gene 431705 ASTL ENSG00000188886 -608861 gene 51606 ATP6V1H ENSG00000047249 -608862 gene 128240 NAXE ENSG00000163382 -608863 gene 10630 PDPN ENSG00000162493 -608864 phenotype -608865 gene 9875 URB1 ENSG00000142207 -608866 gene 118924 FRA10AC1 ENSG00000148690 -608867 gene 11221 DUSP10 ENSG00000143507 -608868 gene 26018 LRIG1 ENSG00000144749 -608869 gene 9860 LRIG2 ENSG00000198799 -608870 gene 121227 LRIG3 ENSG00000139263 -608871 gene 25934 NIPSNAP3A ENSG00000136783 -608872 gene 55335 NIPSNAP3B ENSG00000165028 -608873 gene 10501 SEMA6B ENSG00000167680 -608874 phenotype -608875 phenotype 474334 -608876 gene 51585 PCF11 ENSG00000165494 -608877 gene 55187 VPS13D ENSG00000048707 -608878 phenotype 474333 -608879 gene 54832 VPS13C ENSG00000129003 -608880 gene 9765 ZFYVE16 ENSG00000039319 -608881 gene 9645 MICAL2 ENSG00000133816 -608882 gene 57553 MICAL3 ENSG00000243156 -608883 moved/removed -608884 gene 253959 RALGAPA1 ENSG00000174373 -608885 phenotype -608886 gene 133522 PPARGC1B ENSG00000155846 -608887 gene 5814 PURB ENSG00000146676 -608888 gene 129831 RBM45 ENSG00000155636 -608889 gene 130013 ACMSD ENSG00000153086 -608890 phenotype -608891 gene 130497 OSR1 ENSG00000143867 -608892 gene 55636 CHD7 ENSG00000171316 -608893 gene 340024 SLC6A19 ENSG00000174358 -608894 gene 54806 AHI1 ENSG00000135541 -608895 phenotype -608896 gene 6445 SGCG ENSG00000102683 -608897 gene 201294 UNC13D ENSG00000092929 -608898 phenotype -608899 gene 84163 GTF2IRD2 ENSG00000196275 -608900 gene 389524 GTF2IRD2B ENSG00000174428 -608901 phenotype -608902 phenotype -608903 phenotype 450087 -608904 phenotype 450088 -608905 phenotype 450089 -608906 phenotype 450090 -608907 phenotype -608908 phenotype -608909 gene 221079 ARL5B ENSG00000165997 -608910 gene 100128553 CTAGE4 ENSG00000288784 -608911 phenotype -608912 gene 100996331 POTEB ENSG00000233917 -608913 gene 23784 POTEH ENSG00000198062 -608914 gene 445582 POTEE ENSG00000188219 -608915 gene 340441 POTEA ENSG00000188877 -608916 gene 404785 POTEG ENSG00000187537 -608917 gene 64756 ATPAF1 ENSG00000123472 -608918 gene 91647 ATPAF2 ENSG00000171953 -608919 gene 80727 TTYH3 ENSG00000136295 -608920 gene 57605 PITPNM2 ENSG00000090975 -608921 gene 83394 PITPNM3 ENSG00000091622 -608922 gene 200894 ARL13B ENSG00000169379 -608923 gene 319100 TAAR6 ENSG00000146383 -608924 gene 116113 FOXP4 ENSG00000137166 -608925 gene 79812 MMRN2 ENSG00000173269 -608926 gene 129080 EMID1 ENSG00000186998 -608927 gene 136227 COL26A1 ENSG00000160963 -608928 gene 84034 EMILIN2 ENSG00000132205 -608929 gene 90187 EMILIN3 ENSG00000183798 -608930 phenotype -608931 phenotype -608932 phenotype 450092 -608933 gene 252969 NEIL2 ENSG00000154328 -608934 gene 55247 NEIL3 ENSG00000109674 -608935 phenotype 450093 -608936 gene 58503 OPRPN ENSG00000171199 -608937 gene 25970 SH2B1 ENSG00000178188 -608938 gene 6198 RPS6KB1 ENSG00000108443 -608939 gene 6199 RPS6KB2 ENSG00000175634 -608940 phenotype -608941 gene 2785 GNG3 ENSG00000162188 -608942 gene 140735 DYNLL2 ENSG00000264364 -608943 gene 57019 CIAPIN1 ENSG00000005194 -608944 gene 158326 FREM1 ENSG00000164946 -608945 gene 341640 FREM2 ENSG00000150893 -608946 gene 166752 FREM3 ENSG00000183090 -608947 gene 253980 KCTD13 ENSG00000174943 -608948 gene 84107 ZIC4 ENSG00000174963 -608949 gene 51228 GLTP ENSG00000139433 -608950 gene -608951 gene 57472 CNOT6 ENSG00000113300 -608952 gene 55183 RIF1 ENSG00000080345 -608953 gene 27285 TEKT2 ENSG00000092850 -608954 gene 22879 MON1B ENSG00000103111 -608955 gene 25809 TTLL1 ENSG00000100271 -608956 gene 57864 SLC46A2 ENSG00000119457 -608957 phenotype -608958 gene 100 ADA ENSG00000196839 -608959 gene 285381 DPH3 ENSG00000154813 -608960 gene 26225 ARL5A ENSG00000162980 -608961 gene 80036 TRPM3 ENSG00000083067 -608962 gene 54933 RHBDL2 ENSG00000158315 -608963 gene 256646 NUTM1 ENSG00000184507 -608964 gene 387332 TBPL2 ENSG00000182521 -608965 gene 57010 CABP4 ENSG00000175544 -608966 gene 168002 DACT2 ENSG00000164488 -608967 moved/removed -608968 gene 9935 MAFB ENSG00000204103 -608969 gene 9724 UTP14C ENSG00000253797 -608970 phenotype -608971 phenotype -608972 gene 200186 CRTC2 ENSG00000160741 -608973 gene 23235 SIK2 ENSG00000170145 -608974 gene 51279 C1RL ENSG00000139178 -608975 gene 84612 PARD6B ENSG00000124171 -608976 gene 84552 PARD6G ENSG00000178184 -608977 gene 131118 DNAJC19 ENSG00000205981 -608978 phenotype -608979 gene 132160 PPM1M ENSG00000164088 -608980 phenotype -608981 gene 130399 ACVR1C ENSG00000123612 -608982 phenotype 619479 -608983 moved/removed -608984 phenotype -608985 gene 6045 RNF2 ENSG00000121481 -608986 gene 64784 CRTC3 ENSG00000140577 -608987 gene 283208 P4HA3 ENSG00000149380 -608988 phenotype 619478 -608989 gene 195814 SDR16C5 ENSG00000170786 -608990 gene 81794 ADAMTS10 ENSG00000142303 -608991 gene 55534 MAML3 ENSG00000196782 -608992 gene 255877 BCL6B ENSG00000161940 -608993 gene 200316 APOBEC3F ENSG00000128394 -608994 gene 23294 ANKS1A ENSG00000064999 -608995 phenotype 406874 -608996 phenotype -608997 moved/removed -608998 gene 7260 EIPR1 ENSG00000032389 -608999 gene 650368 TSSC2 ENSG00000223756 -609000 gene 26002 MOXD1 ENSG00000079931 -609001 gene 5288 PIK3C2G ENSG00000139144 -609002 gene 83659 TEKT1 ENSG00000167858 -609003 gene 51024 FIS1 ENSG00000214253 -609004 gene 283149 BCL9L ENSG00000186174 -609005 gene 116966 WDR17 ENSG00000150627 -609006 phenotype -609007 gene 120892 LRRK2 ENSG00000188906 -609008 predominantly phenotypes -609009 gene 10971 YWHAQ ENSG00000134308 -609010 gene 56922 MCCC1 ENSG00000078070 -609011 gene 22846 VASH1 ENSG00000071246 -609012 gene 11091 WDR5 ENSG00000196363 -609013 gene 353189 SLCO4C1 ENSG00000173930 -609014 gene 64087 MCCC2 ENSG00000131844 -609015 phenotype -609016 phenotype -609017 gene 114625 ERMAP ENSG00000164010 -609018 gene 3141 HLCS ENSG00000159267 -609019 gene 686 BTD ENSG00000169814 -609020 gene 219595 FOLH1B ENSG00000134612 -609021 phenotype -609022 gene 253260 RICTOR ENSG00000164327 -609023 gene 25953 PNKD ENSG00000127838 -609024 gene 11014 KDELR2 ENSG00000136240 -609025 gene 9119 KRT75 ENSG00000170454 -609026 phenotype 493862 -609027 phenotype -609028 gene 92610 TIFA ENSG00000145365 -609029 phenotype -609030 gene 54487 DGCR8 ENSG00000128191 -609031 gene 57119 EPPIN ENSG00000101448 -609032 gene 448831 FRG2 ENSG00000205097 -609033 phenotype -609034 gene 26508 HEYL ENSG00000163909 -609035 gene 65059 RAPH1 ENSG00000173166 -609036 gene 54518 APBB1IP ENSG00000077420 -609037 predominantly phenotypes -609038 gene 27289 RND1 ENSG00000172602 -609039 phenotype 494446 -609040 phenotype -609041 phenotype 414886 -609042 gene 221391 OPN5 ENSG00000124818 -609043 gene 339403 RXFP4 ENSG00000173080 -609044 gene 338557 FFAR4 ENSG00000186188 -609045 gene 353345 GPR141 ENSG00000187037 -609046 gene 350383 GPR142 ENSG00000257008 -609047 predominantly phenotypes -609048 phenotype -609049 phenotype -609050 gene 57504 MTA3 ENSG00000057935 -609051 gene 22900 CARD8 ENSG00000105483 -609052 phenotype -609053 phenotype -609054 phenotype -609055 phenotype 497231 -609056 phenotype -609057 phenotype -609058 gene 4594 MMUT ENSG00000146085 -609059 gene 57104 PNPLA2 ENSG00000177666 -609060 phenotype -609061 gene 55740 ENAH ENSG00000154380 -609062 gene 11281 POU6F2 ENSG00000106536 -609063 gene 25828 TXN2 ENSG00000100348 -609064 gene 84735 CNDP1 ENSG00000150656 -609065 moved/removed -609066 gene 84962 AJUBA ENSG00000129474 -609067 gene 642658 SCX ENSG00000260428 -609068 gene 199699 DAND5 ENSG00000179284 -609069 phenotype -609070 phenotype -609071 gene 26190 FBXW2 ENSG00000119402 -609072 gene 54461 FBXW5 ENSG00000159069 -609073 gene 26259 FBXW8 ENSG00000174989 -609074 gene 84261 FBXW9 ENSG00000132004 -609075 gene 285231 FBXW12 ENSG00000164049 -609076 gene 26233 FBXL6 ENSG00000182325 -609077 gene 55336 FBXL8 ENSG00000135722 -609078 gene 84678 KDM2B ENSG00000089094 -609079 gene 54850 FBXL12 ENSG00000127452 -609080 gene 222235 FBXL13 ENSG00000161040 -609081 gene 144699 FBXL14 ENSG00000171823 -609082 gene 146330 FBXL16 ENSG00000127585 -609083 gene 64839 FBXL17 ENSG00000145743 -609084 gene 80028 FBXL18 ENSG00000155034 -609085 gene 54620 FBXL19 ENSG00000099364 -609086 gene 84961 FBXL20 ENSG00000108306 -609087 gene 26223 FBXL21P -609088 gene 283807 FBXL22 ENSG00000197361 -609089 gene 26273 FBXO3 ENSG00000110429 -609090 gene 26272 FBXO4 ENSG00000151876 -609091 gene 26268 FBXO9 ENSG00000112146 -609092 gene 26267 FBXO10 ENSG00000147912 -609093 gene 201456 FBXO15 ENSG00000141665 -609094 gene 115290 FBXO17 ENSG00000269190 -609095 gene 23014 FBXO21 ENSG00000135108 -609096 gene 26263 FBXO22 ENSG00000167196 -609097 gene 26261 FBXO24 ENSG00000106336 -609098 gene 26260 FBXO25 ENSG00000147364 -609099 gene 126433 FBXO27 ENSG00000161243 -609100 gene 23219 FBXO28 ENSG00000143756 -609101 gene 84085 FBXO30 ENSG00000118496 -609102 gene 79791 FBXO31 ENSG00000103264 -609103 gene 254170 FBXO33 ENSG00000165355 -609104 gene 55030 FBXO34 ENSG00000178974 -609105 gene 130888 FBXO36 ENSG00000153832 -609106 gene 162517 FBXO39 ENSG00000177294 -609107 gene 51725 FBXO40 ENSG00000163833 -609108 gene 150726 FBXO41 ENSG00000163013 -609109 gene 54455 FBXO42 ENSG00000037637 -609110 gene 286151 FBXO43 ENSG00000156509 -609111 gene 93611 FBXO44 ENSG00000132879 -609112 gene 200933 FBXO45 ENSG00000174013 -609113 phenotype 550641 -609114 gene 11034 DSTN ENSG00000125868 -609115 phenotype -609116 phenotype 497662 -609117 gene 23403 FBXO46 ENSG00000177051 -609118 gene 11235 PDCD10 ENSG00000114209 -609119 gene 57215 THAP11 ENSG00000168286 -609120 gene 347732 CATSPER3 ENSG00000152705 -609121 gene 378807 CATSPER4 ENSG00000188782 -609122 phenotype 497657 -609123 gene 79895 ATP8B4 ENSG00000104043 -609124 gene 25946 ZNF385A ENSG00000161642 -609125 gene 64598 MOSPD3 ENSG00000106330 -609126 gene 10079 ATP9A ENSG00000054793 -609127 moved/removed -609128 phenotype 100188695 -609129 phenotype -609130 gene 378708 CENPS ENSG00000175279 -609131 gene 1366 CLDN7 ENSG00000181885 -609132 gene 23028 KDM1A ENSG00000004487 -609133 gene 84922 FIZ1 ENSG00000179943 -609134 gene 23304 UBR2 ENSG00000024048 -609135 phenotype -609136 phenotype -609137 gene 132112 RTP1 ENSG00000175077 -609138 gene 344892 RTP2 ENSG00000198471 -609139 gene 65055 REEP1 ENSG00000068615 -609140 phenotype -609141 phenotype -609142 gene 1084 CEACAM3 ENSG00000170956 -609143 moved/removed -609144 gene 28982 FLVCR1 ENSG00000162769 -609145 gene 23114 NFASC ENSG00000163531 -609146 gene 60626 RIC8A ENSG00000177963 -609147 gene 55188 RIC8B ENSG00000111785 -609148 phenotype -609149 gene 222962 SLC29A4 ENSG00000164638 -609150 gene 30827 CXXC1 ENSG00000154832 -609151 gene 91544 UBXN11 ENSG00000158062 -609152 phenotype -609153 phenotype -609154 gene 56676 ASCL3 ENSG00000176009 -609155 gene 121549 ASCL4 ENSG00000187855 -609156 gene 56926 NCLN ENSG00000125912 -609157 gene 23420 NOMO1 ENSG00000103512 -609158 gene 283820 NOMO2 ENSG00000185164 -609159 gene 408050 NOMO3 ENSG00000103226 -609160 moved/removed -609161 phenotype -609162 phenotype -609163 gene 338442 HCAR2 ENSG00000182782 -609164 phenotype -609165 phenotype -609166 phenotype -609167 moved/removed -609168 gene 151648 SGO1 ENSG00000129810 -609169 gene 26330 GAPDHS ENSG00000105679 -609170 gene 23071 ERP44 ENSG00000023318 -609171 gene 148170 CDC42EP5 ENSG00000167617 -609172 gene 84988 PPP1R16A ENSG00000160972 -609173 gene 57082 KNL1 ENSG00000137812 -609174 gene 25936 NSL1 ENSG00000117697 -609175 gene 79980 DSN1 ENSG00000149636 -609176 gene 11243 PMF1 ENSG00000160783 -609177 gene 11130 ZWINT ENSG00000122952 -609178 gene 79003 MIS12 ENSG00000167842 -609179 phenotype 553992 -609180 phenotype -609181 gene 8798 DYRK4 ENSG00000010219 -609182 gene 11046 SLC35D2 ENSG00000130958 -609183 gene 54998 AURKAIP1 ENSG00000175756 -609184 gene 285643 KIF4B ENSG00000226650 -609185 gene 22882 ZHX2 ENSG00000178764 -609186 gene 728294 D2HGDH ENSG00000180902 -609187 gene 79783 SUGCT ENSG00000175600 -609188 gene 136647 MPLKIP ENSG00000168303 -609189 gene 25842 ASF1A ENSG00000111875 -609190 gene 55723 ASF1B ENSG00000105011 -609191 gene 56672 AKIP1 ENSG00000166452 -609192 phenotype -609193 gene 122769 LRR1 ENSG00000165501 -609194 gene 91768 CABLES1 ENSG00000134508 -609195 phenotype -609196 gene 56246 MRAP ENSG00000170262 -609197 phenotype 619477 -609198 gene 92949 ADAMTSL1 ENSG00000178031 -609199 gene 57188 ADAMTSL3 ENSG00000156218 -609200 phenotype -609201 gene 84959 UBASH3B ENSG00000154127 -609202 gene 10590 SCGN ENSG00000079689 -609203 gene 137075 CLDN23 ENSG00000253958 -609204 gene 51021 MRPS16 ENSG00000182180 -609205 gene 153090 DAB2IP ENSG00000136848 -609206 gene 9521 EEF1E1 ENSG00000124802 -609207 gene 55686 MREG ENSG00000118242 -609208 gene 81621 KAZALD1 ENSG00000107821 -609209 gene 10625 IVNS1ABP ENSG00000116679 -609210 gene 51208 CLDN18 ENSG00000066405 -609211 gene 103910 MYL12B ENSG00000118680 -609212 gene 80150 ASRGL1 ENSG00000162174 -609213 gene 29927 SEC61A1 ENSG00000058262 -609214 gene 10952 SEC61B ENSG00000106803 -609215 gene 23480 SEC61G ENSG00000132432 -609216 gene 56907 SPIRE1 ENSG00000134278 -609217 gene 84501 SPIRE2 ENSG00000204991 -609218 phenotype -609219 gene 256281 NUDT14 ENSG00000183828 -609220 phenotype -609221 gene 55226 NAT10 ENSG00000135372 -609222 phenotype -609223 phenotype -609224 gene 55062 WIPI1 ENSG00000070540 -609225 gene 26100 WIPI2 ENSG00000157954 -609226 gene 56270 WDR45B ENSG00000141580 -609227 phenotype -609228 gene 11165 NUDT3 ENSG00000272325 -609229 gene 11163 NUDT4 ENSG00000173598 -609230 gene 11164 NUDT5 ENSG00000165609 -609231 gene 283927 NUDT7 ENSG00000140876 -609232 gene 83594 NUDT12 ENSG00000112874 -609233 gene 25961 NUDT13 ENSG00000166321 -609234 gene 83939 EIF2A ENSG00000144895 -609235 gene 84446 BRSK1 ENSG00000160469 -609236 gene 9024 BRSK2 ENSG00000174672 -609237 gene 9657 IQCB1 ENSG00000173226 -609238 gene 9910 RABGAP1L ENSG00000152061 -609239 gene 10161 LPAR6 ENSG00000139679 -609240 gene 83903 HASPIN ENSG00000177602 -609241 phenotype -609242 phenotype -609243 gene 135250 RAET1E ENSG00000164520 -609244 gene 353091 RAET1G ENSG00000203722 -609245 gene 29899 GPSM2 ENSG00000121957 -609246 gene 57026 PDXP ENSG00000241360 -609247 gene 11342 RNF13 ENSG00000082996 -609248 gene 26091 HERC4 ENSG00000148634 -609249 gene 55008 HERC6 ENSG00000138642 -609250 predominantly phenotypes -609251 gene 127943 FCRLB ENSG00000162746 -609252 gene 149998 LIPI ENSG00000188992 -609253 phenotype 619397 -609254 phenotype -609255 phenotype 619398 -609256 phenotype 553190 -609257 phenotype 553192 -609258 phenotype 553194 -609259 phenotype 553195 -609260 phenotype -609261 phenotype 100049543 -609262 gene 51185 CRBN ENSG00000113851 -609263 gene 81929 SEH1L ENSG00000085415 -609264 gene 79023 NUP37 ENSG00000075188 -609265 phenotype -609266 moved/removed -609267 gene 64110 MAGEF1 ENSG00000177383 -609268 gene 140890 SREK1 ENSG00000153914 -609269 gene 9856 KIAA0319 ENSG00000137261 -609270 phenotype -609271 phenotype 550624 -609272 gene 23430 TPSD1 ENSG00000095917 -609273 phenotype -609274 gene 342538 NACA2 ENSG00000253506 -609275 gene 25782 RAB3GAP2 ENSG00000118873 -609276 gene 23310 NCAPD3 ENSG00000151503 -609277 gene 27304 MOCS3 ENSG00000124217 -609278 gene 284359 IZUMO1 ENSG00000182264 -609279 gene 55835 CENPJ ENSG00000151849 -609280 gene 440275 EIF2AK4 ENSG00000128829 -609281 gene 55233 MOB1A ENSG00000114978 -609282 gene 92597 MOB1B ENSG00000173542 -609283 phenotype -609284 phenotype -609285 phenotype -609286 phenotype -609287 gene 51100 SH3GLB1 ENSG00000097033 -609288 gene 56904 SH3GLB2 ENSG00000148341 -609289 phenotype 105031671 -609290 gene 50808 AK3 ENSG00000147853 -609291 gene 161742 SPRED1 ENSG00000166068 -609292 gene 200734 SPRED2 ENSG00000198369 -609293 gene 399473 SPRED3 ENSG00000188766 -609294 gene 10500 SEMA6C ENSG00000143434 -609295 gene 80031 SEMA6D ENSG00000137872 -609296 phenotype -609297 gene 9037 SEMA5A ENSG00000112902 -609298 gene 54437 SEMA5B ENSG00000082684 -609299 phenotype 619402 -609300 gene 1586 CYP17A1 ENSG00000148795 -609301 gene 64065 PERP ENSG00000112378 -609302 gene 79751 SLC25A22 ENSG00000177542 -609303 gene 83733 SLC25A18 ENSG00000182902 -609304 phenotype -609305 gene 56925 LXN ENSG00000079257 -609306 phenotype -609307 phenotype -609308 phenotype -609309 gene 4436 MSH2 ENSG00000095002 -609310 phenotype -609311 phenotype -609312 gene 1621 DBH ENSG00000123454 -609313 phenotype -609314 gene 89765 RSPH1 ENSG00000160188 -609315 gene 81786 TRIM7 ENSG00000146054 -609316 gene 11074 TRIM31 ENSG00000204616 -609317 gene 55521 TRIM36 ENSG00000152503 -609318 gene 80263 TRIM45 ENSG00000134253 -609319 phenotype 100381204 -609320 phenotype 100381205 -609321 gene 163786 SASS6 ENSG00000156876 -609322 phenotype -609323 gene 167826 OLIG3 ENSG00000177468 -609324 phenotype -609325 phenotype -609326 gene 406904 MIR1-1 ENSG00000199017 -609327 gene 406907 MIR124-1 ENSG00000284321 -609328 gene 83549 UCK1 ENSG00000130717 -609329 gene 7371 UCK2 ENSG00000143179 -609330 gene 170392 OIT3 ENSG00000138315 -609331 gene 128408 BHLHE23 ENSG00000125533 -609332 gene 57217 TTC7A ENSG00000068724 -609333 gene 134864 TAAR1 ENSG00000146399 -609334 phenotype -609335 gene 54953 ODR4 ENSG00000157181 -609336 gene 83854 ANGPTL6 ENSG00000130812 -609337 gene 406947 MIR155 ENSG00000283904 -609338 phenotype -609339 moved/removed -609340 phenotype -609341 gene 25823 TPSG1 ENSG00000116176 -609342 gene 2694 CBLIF ENSG00000134812 -609343 gene 64063 PRSS22 ENSG00000005001 -609344 gene 375616 KCP ENSG00000135253 -609345 predominantly phenotypes -609346 gene 92840 REEP6 ENSG00000115255 -609347 gene 51308 REEP2 ENSG00000132563 -609348 gene 221035 REEP3 ENSG00000165476 -609349 gene 80346 REEP4 ENSG00000168476 -609350 gene 64108 RTP4 ENSG00000136514 -609351 gene 115761 ARL11 ENSG00000152213 -609352 phenotype -609353 gene 157570 ESCO2 ENSG00000171320 -609354 phenotype 554315 -609355 gene 407036 MIR32 ENSG00000207698 -609356 gene 57532 NUFIP2 ENSG00000108256 -609357 gene 55388 MCM10 ENSG00000065328 -609358 gene 2116 ETV2 ENSG00000105672 -609359 gene 64342 HS1BP3 ENSG00000118960 -609360 gene 55328 RNLS ENSG00000184719 -609361 gene 25843 MOB4 ENSG00000115540 -609362 gene 23659 PLA2G15 ENSG00000103066 -609363 predominantly phenotypes -609364 gene 55655 NLRP2 ENSG00000022556 -609365 gene 29889 GNL2 ENSG00000134697 -609366 gene 9646 CTR9 ENSG00000198730 -609367 gene 26128 KIFBP ENSG00000198954 -609368 gene 64225 ATL2 ENSG00000119787 -609369 gene 25923 ATL3 ENSG00000184743 -609370 gene 140901 STK35 ENSG00000125834 -609371 gene 51306 FAM13B ENSG00000031003 -609372 gene 51307 FAM53C ENSG00000120709 -609373 gene 51780 KDM3B ENSG00000120733 -609374 gene 113130 CDCA5 ENSG00000146670 -609375 gene 286826 LIN9 ENSG00000183814 -609376 phenotype 619404 -609377 gene 65057 ACD ENSG00000102977 -609378 phenotype 554314 -609379 gene 158062 LCN6 ENSG00000267206 -609380 gene 89782 LMLN ENSG00000185621 -609381 gene 9515 STXBP5L ENSG00000145087 -609382 gene 51124 IER3IP1 ENSG00000134049 -609383 gene 348938 NIPAL4 ENSG00000172548 -609384 phenotype -609385 gene 373863 DND1 ENSG00000256453 -609386 gene 23137 SMC5 ENSG00000198887 -609387 gene 79677 SMC6 ENSG00000163029 -609388 gene 51108 METTL9 ENSG00000197006 -609389 gene 22876 INPP5F ENSG00000198825 -609390 gene 9896 FIG4 ENSG00000112367 -609391 gene 389058 SP5 ENSG00000204335 -609392 gene 51274 KLF3 ENSG00000109787 -609393 gene 136259 KLF14 ENSG00000266265 -609394 gene 147841 SPC24 ENSG00000161888 -609395 gene 57405 SPC25 ENSG00000152253 -609396 gene 23239 PHLPP1 ENSG00000081913 -609397 gene 219736 STOX1 ENSG00000165730 -609398 gene 51382 ATP6V1D ENSG00000100554 -609399 gene 246777 SPESP1 ENSG00000258484 -609400 phenotype 619405 -609401 gene 266722 HS6ST3 ENSG00000185352 -609402 phenotype 780908 -609403 phenotype 780909 -609404 phenotype -609405 gene 23779 ARHGAP8 ENSG00000241484 -609406 gene 55615 PRR5 ENSG00000186654 -609407 gene 222537 HS3ST5 ENSG00000249853 -609408 phenotype 619406 -609409 gene 10949 HNRNPA0 ENSG00000177733 -609410 gene 8871 SYNJ2 ENSG00000078269 -609411 gene 55333 SYNJ2BP ENSG00000213463 -609412 gene 1161 ERCC8 ENSG00000049167 -609413 gene 2074 ERCC6 ENSG00000225830 -609414 gene 200576 PIKFYVE ENSG00000115020 -609415 gene 407975 MIR17HG ENSG00000215417 -609416 gene 406952 MIR17 ENSG00000284536 -609417 gene 406953 MIR18A ENSG00000283815 -609418 gene 406979 MIR19A ENSG00000284204 -609419 gene 406980 MIR19B1 ENSG00000284375 -609420 gene 406982 MIR20A ENSG00000283762 -609421 moved/removed -609422 gene 407048 MIR92A1 ENSG00000283705 -609423 phenotype -609424 gene 149041 RC3H1 ENSG00000135870 -609425 phenotype -609426 gene 50488 MINK1 ENSG00000141503 -609427 gene 222662 LHFPL5 ENSG00000197753 -609428 phenotype 574049 -609429 gene 121643 FOXN4 ENSG00000139445 -609430 gene 64067 NPAS3 ENSG00000151322 -609431 gene 51562 MBIP ENSG00000151332 -609432 phenotype -609433 gene 51720 UIMC1 ENSG00000087206 -609434 gene 51747 LUC7L3 ENSG00000108848 -609435 gene 51079 NDUFA13 ENSG00000186010 -609436 gene 26291 FGF21 ENSG00000105550 -609437 gene 83931 STK40 ENSG00000196182 -609438 predominantly phenotypes -609439 phenotype -609440 gene 51118 UTP11 ENSG00000183520 -609441 phenotype -609442 predominantly phenotypes -609443 gene 63036 CELA2A ENSG00000142615 -609444 gene 51032 CELA2B ENSG00000215704 -609445 gene 51289 RXFP3 ENSG00000182631 -609446 phenotype -609447 gene 51237 MZB1 ENSG00000170476 -609448 gene 51060 TXNDC12 ENSG00000117862 -609449 gene 54820 NDE1 ENSG00000072864 -609450 gene 83463 MXD3 ENSG00000213347 -609451 gene 146198 ZFP90 ENSG00000184939 -609452 phenotype -609453 gene 51125 GOLGA7 ENSG00000147533 -609454 phenotype 619408 -609455 gene 27043 PELP1 ENSG00000141456 -609456 phenotype 619409 -609457 gene 3034 HAL ENSG00000084110 -609458 gene 4125 MAN2B1 ENSG00000104774 -609459 gene 85359 DGCR6L ENSG00000128185 -609460 phenotype -609461 gene 10221 TRIB1 ENSG00000173334 -609462 gene 28951 TRIB2 ENSG00000071575 -609463 gene 57496 MRTFB ENSG00000186260 -609464 moved/removed -609465 phenotype -609466 predominantly phenotypes -609467 predominantly phenotypes 390788 CCL3P1 -609468 gene 414062 CCL3L3 ENSG00000276085 -609469 phenotype 619410 -609470 phenotype 619411 -609471 gene 57704 GBA2 ENSG00000070610 -609472 gene 1262 CNGA4 ENSG00000132259 -609473 gene 57530 CGN ENSG00000143375 -609474 gene 23467 NPTXR ENSG00000221890 -609475 gene 26993 AKAP8L ENSG00000011243 -609476 gene 51701 NLK ENSG00000087095 -609477 gene 56935 SMCO4 ENSG00000166002 -609478 gene 51046 ST8SIA3 ENSG00000177511 -609479 gene 51776 MAP3K20 ENSG00000091436 -609480 moved/removed -609481 gene 64843 ISL2 ENSG00000159556 -609482 gene 155465 AGR3 ENSG00000173467 -609483 gene 157638 LRATD2 ENSG00000168672 -609484 gene 27076 LYPD3 ENSG00000124466 -609485 gene 64112 MOAP1 ENSG00000165943 -609486 gene 55837 EAPP ENSG00000129518 -609487 gene 10746 MAP3K2 ENSG00000169967 -609488 gene 256309 CCDC110 ENSG00000168491 -609489 gene 4126 MANBA ENSG00000109323 -609490 gene 440068 CARD17 -609491 gene 26086 GPSM1 ENSG00000160360 -609492 gene 9770 RASSF2 ENSG00000101265 -609493 gene 56731 SLC2A4RG ENSG00000125520 -609494 gene 55893 ZNF395 ENSG00000186918 -609495 gene 449520 GGNBP1 ENSG00000204188 -609496 moved/removed -609497 gene 64167 ERAP2 ENSG00000164308 -609498 gene 494188 FBXO47 ENSG00000204952 -609499 gene 23263 MCF2L ENSG00000126217 -609500 phenotype -609501 gene 11022 TDRKH ENSG00000182134 -609502 gene 92211 CDHR1 ENSG00000148600 -609503 gene 51298 THEG ENSG00000105549 -609504 gene 10445 MCRS1 ENSG00000187778 -609505 gene 10626 TRIM16 ENSG00000221926 -609506 gene 1594 CYP27B1 ENSG00000111012 -609507 gene 10210 TOPORS ENSG00000197579 -609508 phenotype -609509 gene 386653 IL31 ENSG00000204671 -609510 gene 133396 IL31RA ENSG00000164509 -609511 gene 64145 RBSN ENSG00000131381 -609512 gene 25978 CHMP2B ENSG00000083937 -609513 gene 594857 NPS ENSG00000214285 -609514 gene 129685 TAF8 ENSG00000137413 -609515 predominantly phenotypes -609516 gene 84911 ZNF382 ENSG00000161298 -609517 gene 399687 MYO18A ENSG00000196535 -609518 gene 80764 THAP7 ENSG00000184436 -609519 gene 29844 TFPT ENSG00000105619 -609520 gene 55145 THAP1 ENSG00000131931 -609521 gene 7779 SLC30A1 ENSG00000170385 -609522 gene 51224 ELOA2 ENSG00000206181 -609523 gene 224 ALDH3A2 ENSG00000072210 -609524 phenotype -609525 gene 79828 METTL8 ENSG00000123600 -609526 gene 25894 PLEKHG4 ENSG00000196155 -609527 gene 9771 RAPGEF5 ENSG00000136237 -609528 phenotype -609529 phenotype -609530 gene 9693 RAPGEF2 ENSG00000109756 -609531 gene 25780 RASGRP3 ENSG00000152689 -609532 phenotype -609533 phenotype -609534 gene 79915 ATAD5 ENSG00000176208 -609535 phenotype -609536 phenotype -609537 predominantly phenotypes -609538 gene 114971 PTPMT1 ENSG00000110536 -609539 gene 196528 ARID2 ENSG00000189079 -609540 gene 80349 WDR61 ENSG00000140395 -609541 phenotype -609542 gene 10396 ATP8A1 ENSG00000124406 -609543 gene 497634 LINC00293 ENSG00000253314 -609544 gene 9738 CCP110 ENSG00000103540 -609545 predominantly phenotypes -609546 gene 57663 USP29 ENSG00000131864 -609547 moved/removed -609548 gene 79748 LMAN1L ENSG00000140506 -609549 phenotype -609550 gene 27309 ZNF330 ENSG00000109445 -609551 gene 10960 LMAN2 ENSG00000169223 -609552 gene 81562 LMAN2L ENSG00000114988 -609553 gene 83546 RTBDN ENSG00000132026 -609554 gene 81618 ITM2C ENSG00000135916 -609555 gene 56265 CPXM1 ENSG00000088882 -609556 gene 84239 ATP13A4 ENSG00000127249 -609557 gene 9581 PREPL ENSG00000138078 -609558 phenotype 100188789 -609559 gene 79823 CAMKMT ENSG00000143919 -609560 phenotype -609561 gene 93979 CPA5 ENSG00000158525 -609562 gene 57094 CPA6 ENSG00000165078 -609563 gene 130749 CPO ENSG00000144410 -609564 gene 84875 PARP10 ENSG00000178685 -609565 gene 199675 MCEMP1 ENSG00000183019 -609566 phenotype 619475 -609567 gene 80339 PNPLA3 ENSG00000100344 -609568 gene 57569 ARHGAP20 ENSG00000137727 -609569 moved/removed -609570 phenotype 100188790 -609571 gene 374879 ZNF699 ENSG00000196110 -609572 phenotype 780910 -609573 phenotype 619471 -609574 gene 51144 HSD17B12 ENSG00000149084 -609575 gene 37 ACADVL ENSG00000072778 -609576 gene 33 ACADL ENSG00000115361 -609577 gene 9820 CUL7 ENSG00000044090 -609578 phenotype 619468 -609579 phenotype -609580 gene 22981 NINL ENSG00000101004 -609581 moved/removed -609582 gene 406906 MIR122 ENSG00000284440 -609583 phenotype -609584 gene 79944 L2HGDH ENSG00000087299 -609585 gene 594855 CPLX3 ENSG00000213578 -609586 gene 339302 CPLX4 ENSG00000166569 -609587 gene 55920 RCC2 ENSG00000179051 -609588 gene 51218 GLRX5 ENSG00000182512 -609589 gene 57509 MTUS1 ENSG00000129422 -609590 gene 9444 QKI ENSG00000112531 -609591 gene 6016 RIT1 ENSG00000143622 -609592 gene 6014 RIT2 ENSG00000152214 -609593 gene 55604 CARMIL1 ENSG00000079691 -609594 gene 79674 VEPH1 ENSG00000197415 -609595 gene 284654 RSPO1 ENSG00000169218 -609596 gene 27335 EIF3K ENSG00000178982 -609597 phenotype -609598 gene 23051 ZHX3 ENSG00000174306 -609599 gene 27063 ANKRD1 ENSG00000148677 -609600 gene 252884 ZNF396 ENSG00000186496 -609601 gene 84307 ZNF397 ENSG00000186812 -609602 gene 128209 KLF17 ENSG00000171872 -609603 gene 155051 CRYGN ENSG00000127377 -609604 gene 81631 MAP1LC3B ENSG00000140941 -609605 gene 440738 MAP1LC3C ENSG00000197769 -609606 gene 64422 ATG3 ENSG00000144848 -609607 gene 81607 NECTIN4 ENSG00000143217 -609608 gene 9140 ATG12 ENSG00000145782 -609609 moved/removed -609610 gene 27229 TUBGCP4 ENSG00000137822 -609611 gene 81611 ANP32E ENSG00000143401 -609612 predominantly phenotypes -609613 gene 23207 PLEKHM2 ENSG00000116786 -609614 gene 57455 REXO1 ENSG00000079313 -609615 gene 81890 QTRT1 ENSG00000213339 -609616 predominantly phenotypes -609617 gene 7780 SLC30A2 ENSG00000158014 -609618 gene 641373 NRON -609619 gene 440270 GOLGA8B ENSG00000215252 -609620 phenotype -609621 phenotype -609622 phenotype -609623 gene 54922 RASIP1 ENSG00000105538 -609624 gene 401250 MCCD1 ENSG00000204511 -609625 phenotype -609626 gene 266727 MDGA1 ENSG00000112139 -609627 gene 259296 TAS2R50 ENSG00000212126 -609628 phenotype -609629 phenotype -609630 phenotype 100188791 -609631 gene 23586 DDX58 ENSG00000107201 -609632 gene 81544 GDPD5 ENSG00000158555 -609633 phenotype 100188792 -609634 phenotype -609635 gene 150921 TCF23 ENSG00000163792 -609636 phenotype 780912 -609637 phenotype -609638 phenotype -609639 gene 3042 HBM ENSG00000206177 -609640 phenotype -609641 gene 10480 EIF3M ENSG00000149100 -609642 gene 445347 -609643 phenotype -609644 gene 57697 FANCM ENSG00000187790 -609645 gene 147945 NLRP4 ENSG00000160505 -609646 phenotype -609647 phenotype 449488 -609648 gene 91662 NLRP12 ENSG00000142405 -609649 phenotype 94014 -609650 gene 171389 NLRP6 ENSG00000174885 -609651 gene 170589 GPHA2 ENSG00000149735 -609652 gene 122876 GPHB5 ENSG00000179600 -609653 gene 91942 NDUFAF2 ENSG00000164182 -609654 predominantly phenotypes -609655 predominantly phenotypes -609656 phenotype 100188793 -609657 phenotype 100188794 -609658 gene 126206 NLRP5 ENSG00000171487 -609659 gene 126205 NLRP8 ENSG00000179709 -609660 gene 126204 NLRP13 ENSG00000173572 -609661 gene 199713 NLRP7 ENSG00000167634 -609662 gene 338322 NLRP10 ENSG00000182261 -609663 gene 338321 NLRP9 ENSG00000185792 -609664 gene 204801 NLRP11 ENSG00000179873 -609665 gene 338323 NLRP14 ENSG00000158077 -609666 gene 53373 TPCN1 ENSG00000186815 -609667 gene 117289 TAGAP ENSG00000164691 -609668 gene 160760 PPTC7 ENSG00000196850 -609669 gene 134430 WDR36 ENSG00000134987 -609670 phenotype 100415943 -609671 gene 55240 STEAP3 ENSG00000115107 -609672 gene 54536 EXOC6 ENSG00000138190 -609673 gene 80310 PDGFD ENSG00000170962 -609674 gene 114799 ESCO1 ENSG00000141446 -609675 gene 25928 SOSTDC1 ENSG00000171243 -609676 gene 57506 MAVS ENSG00000088888 -609677 gene 10956 OS9 ENSG00000135506 -609678 gene 114798 SLITRK1 ENSG00000178235 -609679 gene 22865 SLITRK3 ENSG00000121871 -609680 gene 26050 SLITRK5 ENSG00000165300 -609681 gene 84189 SLITRK6 ENSG00000184564 -609682 gene 9937 DCLRE1A ENSG00000198924 -609683 gene 64858 DCLRE1B ENSG00000118655 -609684 gene 114569 MAL2 ENSG00000147676 -609685 gene 55536 CDCA7L ENSG00000164649 -609686 gene 171425 CLYBL ENSG00000125246 -609687 gene 406973 MIR196A2 ENSG00000207924 -609688 gene 442920 MIR196B ENSG00000283745 -609689 gene 11190 CEP250 ENSG00000126001 -609690 gene 10056 FARSB ENSG00000116120 -609691 gene 80206 FHOD3 ENSG00000134775 -609692 gene 147179 WIPF2 ENSG00000171475 -609693 gene 80737 VWA7 ENSG00000204396 -609694 gene 51291 GMIP ENSG00000089639 -609695 gene 3242 HPD ENSG00000158104 -609696 gene 51742 ARID4B ENSG00000054267 -609697 gene 79595 SAP130 ENSG00000136715 -609698 phenotype -609699 gene 11343 MGLL ENSG00000074416 -609700 gene 27342 RABGEF1 ENSG00000154710 -609701 gene 4669 NAGLU ENSG00000108784 -609702 gene 56984 PSMG2 ENSG00000128789 -609703 gene 406948 MIR15A ENSG00000283785 -609704 gene 406950 MIR16-1 ENSG00000208006 -609705 gene 407012 MIR24-1 ENSG00000284459 -609706 phenotype -609707 gene 54920 DUS2 ENSG00000167264 -609708 gene 4023 LPL ENSG00000175445 -609709 gene 120071 LARGE2 ENSG00000165905 -609710 gene 140947 DCANP1 ENSG00000251380 -609711 gene 10975 UQCR11 ENSG00000127540 -609712 gene 5313 PKLR ENSG00000143627 -609713 gene 135458 HUS1B ENSG00000188996 -609714 gene 340205 TREML1 ENSG00000161911 -609715 gene 79865 TREML2 ENSG00000112195 -609716 gene 340206 TREML3P ENSG00000184106 -609717 gene 118425 PCAT4 ENSG00000251321 -609718 gene 10184 LHFPL2 ENSG00000145685 -609719 gene 375612 LHFPL3 ENSG00000187416 -609720 gene 286204 CRB2 ENSG00000148204 -609721 gene 168507 PKD1L1 ENSG00000158683 -609722 gene 64236 PDLIM2 ENSG00000120913 -609723 gene 388403 YPEL2 ENSG00000175155 -609724 gene 83719 YPEL3 ENSG00000090238 -609725 gene 219539 YPEL4 ENSG00000166793 -609726 gene 51646 YPEL5 ENSG00000119801 -609727 phenotype 619379 -609728 gene 92935 MARS2 ENSG00000247626 -609729 gene 23024 PDZRN3 ENSG00000121440 -609730 gene 29951 PDZRN4 ENSG00000165966 -609731 gene 140880 CST11 ENSG00000125831 -609732 gene 84708 LNX1 ENSG00000072201 -609733 gene 222484 LNX2 ENSG00000139517 -609734 phenotype -609735 gene 117584 RFFL ENSG00000092871 -609736 gene 55704 CCDC88A ENSG00000115355 -609737 gene 92359 CRB3 ENSG00000130545 -609738 gene 57549 IGSF9 ENSG00000085552 -609739 gene 286676 ILDR1 ENSG00000145103 -609740 gene 26147 PHF19 ENSG00000119403 -609741 phenotype -609742 gene 259307 IL4I1 ENSG00000104951 -609743 gene 57863 CADM3 ENSG00000162706 -609744 gene 199731 CADM4 ENSG00000105767 -609745 phenotype 497188 -609746 gene 79658 ARHGAP10 ENSG00000071205 -609747 gene 137735 ABRA ENSG00000174429 -609748 gene 84993 UBL7 ENSG00000138629 -609749 gene 80146 UXS1 ENSG00000115652 -609750 phenotype 780913 -609751 gene 51 ACOX1 ENSG00000161533 -609752 gene 135112 NCOA7 ENSG00000111912 -609753 phenotype -609754 phenotype 317782 -609755 phenotype -609756 gene 89832 CHRFAM7A ENSG00000166664 -609757 phenotype -609758 gene 154215 NKAIN2 ENSG00000188580 -609759 gene 11105 PRDM7 ENSG00000126856 -609760 gene 56979 PRDM9 ENSG00000164256 -609761 gene 11078 TRIOBP ENSG00000100106 -609762 gene 388552 BLOC1S3 ENSG00000189114 -609763 gene 55361 PI4K2A ENSG00000155252 -609764 gene 9682 KDM4A ENSG00000066135 -609765 gene 23030 KDM4B ENSG00000127663 -609766 gene 55693 KDM4D ENSG00000186280 -609767 gene 81894 SLC25A28 ENSG00000155287 -609768 gene 282991 BLOC1S2 ENSG00000196072 -609769 gene 121214 SDR9C7 ENSG00000170426 -609770 gene 120425 JAML ENSG00000160593 -609771 gene 29855 UBN1 ENSG00000118900 -609772 gene 83992 CTTNBP2 ENSG00000077063 -609773 gene 163126 EID2 ENSG00000176396 -609774 gene 8539 API5 ENSG00000166181 -609775 gene 25844 YIPF3 ENSG00000137207 -609776 gene 118471 PRAP1 ENSG00000165828 -609777 gene 165904 XIRP1 ENSG00000168334 -609778 gene 129446 XIRP2 ENSG00000163092 -609779 gene 79858 NEK11 ENSG00000114670 -609780 gene 54504 CPVL ENSG00000106066 -609781 moved/removed -609782 phenotype 100505390 -609783 gene 80760 ITIH5 ENSG00000123243 -609784 gene 7342 UBP1 ENSG00000153560 -609785 gene 29842 TFCP2L1 ENSG00000115112 -609786 gene 29841 GRHL1 ENSG00000134317 -609787 gene 51271 UBAP1 ENSG00000165006 -609788 gene 143570 XRRA1 ENSG00000166435 -609789 gene 375318 AQP12A ENSG00000184945 -609790 phenotype 100188795 -609791 gene 84894 LINGO1 ENSG00000169783 -609792 gene 645191 LINGO3 ENSG00000220008 -609793 gene 158038 LINGO2 ENSG00000174482 -609794 gene 339398 LINGO4 ENSG00000213171 -609795 gene 347148 QRFP ENSG00000188710 -609796 phenotype -609797 gene 23299 BICD2 ENSG00000185963 -609798 gene 91754 NEK9 ENSG00000119638 -609799 gene 284086 NEK8 ENSG00000160602 -609800 phenotype 100188796 -609801 gene 342510 CD300E ENSG00000186407 -609802 gene 283652 SLC24A5 ENSG00000188467 -609803 gene 150709 ANKAR ENSG00000151687 -609804 gene 146845 CFAP52 ENSG00000166596 -609805 gene 219938 SPATA19 ENSG00000166118 -609806 gene 3145 HMBS ENSG00000256269 -609807 gene 146722 CD300LF ENSG00000186074 -609808 predominantly phenotypes -609809 gene 54923 LIME1 ENSG00000203896 -609810 gene 23089 PEG10 ENSG00000242265 -609811 gene 170712 COX7B2 ENSG00000170516 -609812 phenotype -609813 phenotype -609814 phenotype -609815 phenotype 780914 -609816 gene 65065 NBEAL1 ENSG00000144426 -609817 phenotype -609818 gene 9100 USP10 ENSG00000103194 -609819 gene 84366 PRAC1 ENSG00000159182 -609820 phenotype -609821 phenotype -609822 phenotype 100037265 -609823 phenotype -609824 gene 84072 HORMAD1 ENSG00000143452 -609825 gene 27235 COQ2 ENSG00000173085 -609826 gene 142680 SLC34A3 ENSG00000198569 -609827 gene 246330 PELI3 ENSG00000174516 -609828 gene 79187 FSD1 ENSG00000105255 -609829 gene 83856 FSD1L ENSG00000106701 -609830 moved/removed -609831 gene 25974 MMACHC ENSG00000132763 -609832 gene 55244 SLC47A1 ENSG00000142494 -609833 gene 146802 SLC47A2 ENSG00000180638 -609834 gene 6419 SETMAR ENSG00000170364 -609835 gene 84073 MYCBPAP ENSG00000136449 -609836 gene 84105 PCBD2 ENSG00000132570 -609837 gene 338433 SNORD115-1 ENSG00000201831 -609838 gene 25769 SLC24A2 ENSG00000155886 -609839 gene 57419 SLC24A3 ENSG00000185052 -609840 gene 123041 SLC24A4 ENSG00000140090 -609841 gene 80024 SLC8B1 ENSG00000089060 -609842 gene 80153 EDC3 ENSG00000179151 -609843 gene 196513 DCP1B ENSG00000151065 -609844 gene 167227 DCP2 ENSG00000172795 -609845 gene 6476 SI ENSG00000090402 -609846 gene 83998 REG4 ENSG00000134193 -609847 gene 147111 NOTUM ENSG00000185269 -609848 gene 147040 KCTD11 ENSG00000213859 -609849 gene 57175 CORO1B ENSG00000172725 -609850 gene 23216 TBC1D1 ENSG00000065882 -609851 gene 253430 IPMK ENSG00000151151 -609852 gene 83881 MIXL1 ENSG00000185155 -609853 gene 79717 PPCS ENSG00000127125 -609854 gene 60490 PPCDC ENSG00000138621 -609855 gene 80347 COASY ENSG00000068120 -609856 gene 83893 SPATA16 ENSG00000144962 -609857 gene 1762 DMWD ENSG00000185800 -609858 gene 55500 ETNK1 ENSG00000139163 -609859 gene 55224 ETNK2 ENSG00000143845 -609860 gene 56286 DAD1P1 -609861 gene 121457 IKBIP ENSG00000166130 -609862 gene 164656 TMPRSS6 ENSG00000187045 -609863 gene 79600 TCTN1 ENSG00000204852 -609864 gene 55529 PIP4P2 ENSG00000155099 -609865 gene 90809 PIP4P1 ENSG00000165782 -609866 gene 90627 STARD13 ENSG00000133121 -609867 gene 134510 UBLCP1 ENSG00000164332 -609868 gene 55812 SPATA7 ENSG00000042317 -609869 gene 353324 SPATA12 ENSG00000186451 -609870 gene 57584 ARHGAP21 ENSG00000107863 -609871 gene 55357 TBC1D2 ENSG00000095383 -609872 gene 128488 WFDC12 ENSG00000168703 -609873 gene 55600 ITLN1 ENSG00000179914 -609874 gene 142683 ITLN2 ENSG00000158764 -609875 gene 220202 ATOH7 ENSG00000179774 -609876 phenotype 100188797 -609877 gene 51084 CRYL1 ENSG00000165475 -609878 gene 55090 MED9 ENSG00000141026 -609879 gene 132851 SPATA4 ENSG00000150628 -609880 gene 11143 KAT7 ENSG00000136504 -609881 gene 246721 POLR2J2 ENSG00000228049 -609882 gene 22823 MTF2 ENSG00000143033 -609883 gene 54903 MKS1 ENSG00000011143 -609884 gene 91147 TMEM67 ENSG00000164953 -609885 gene 80237 ELL3 ENSG00000128886 -609886 moved/removed -609887 phenotype -609888 phenotype 81861 -609889 phenotype -609890 gene 23352 UBR4 ENSG00000127481 -609891 gene 134701 RIPPLY2 ENSG00000203877 -609892 gene 53820 RIPPLY3 ENSG00000183145 -609893 phenotype 780915 -609894 gene 23025 UNC13A ENSG00000130477 -609895 gene 54897 CASZ1 ENSG00000130940 -609896 gene 317649 EIF4E3 ENSG00000163412 -609897 gene 80864 EGFL8 ENSG00000241404 -609898 gene 83999 KREMEN1 ENSG00000183762 -609899 gene 79412 KREMEN2 ENSG00000131650 -609900 gene 140564 APOBEC3D ENSG00000243811 -609901 gene 257629 ANKS4B ENSG00000175311 -609902 moved/removed -609903 phenotype 100188798 -609904 gene 255626 H2BC1 ENSG00000146047 -609905 gene 10398 MYL9 ENSG00000101335 -609906 gene 10278 EFS ENSG00000100842 -609907 gene 223117 SEMA3D ENSG00000153993 -609908 gene 403314 APOBEC4 ENSG00000173627 -609909 phenotype -609910 gene 89876 CFAP91 ENSG00000183833 -609911 gene 283600 SLC25A47 ENSG00000140107 -609912 gene 84148 KAT8 ENSG00000103510 -609913 phenotype -609914 gene 282679 AQP11 ENSG00000178301 -609915 phenotype 664728 -609916 gene 64343 AZI2 ENSG00000163512 -609917 gene 79033 ERI3 ENSG00000117419 -609918 phenotype 100048905 -609919 phenotype 100048906 -609920 gene 64405 CDH22 ENSG00000149654 -609921 gene 26020 LRP10 ENSG00000197324 -609922 gene 23301 EHBP1 ENSG00000115504 -609923 phenotype -609924 phenotype -609925 gene 64174 DPEP2 ENSG00000167261 -609926 gene 64180 DPEP3 ENSG00000141096 -609927 gene 137492 VPS37A ENSG00000155975 -609928 gene 57644 MYH7B ENSG00000078814 -609929 gene 22989 MYH15 ENSG00000144821 -609930 gene 140465 MYL6B ENSG00000196465 -609931 gene 4637 MYL6 ENSG00000092841 -609932 gene 171169 SPACA4 ENSG00000177202 -609933 gene 130120 REG3G ENSG00000143954 -609934 gene 64641 EBF2 ENSG00000221818 -609935 gene 57593 EBF4 ENSG00000088881 -609936 gene 10927 SPIN1 ENSG00000106723 -609937 gene 83879 CDCA7 ENSG00000144354 -609938 gene 253559 CADM2 ENSG00000175161 -609939 phenotype -609940 moved/removed -609941 phenotype 448963 -609942 phenotype -609943 moved/removed -609944 predominantly phenotypes -609945 predominantly phenotypes -609946 phenotype 449489 -609947 gene 9692 PRORP ENSG00000100890 -609948 gene 54476 RNF216 ENSG00000011275 -609949 gene 27202 C5AR2 ENSG00000134830 -609950 gene 125950 RAVER1 ENSG00000161847 -609951 gene 171017 ZNF384 ENSG00000126746 -609952 phenotype 494148 -609953 gene 55225 RAVER2 ENSG00000162437 -609954 phenotype 100188800 -609955 phenotype 780916 -609956 gene 326624 RAB37 ENSG00000172794 -609957 gene 333926 PPM1J ENSG00000155367 -609958 phenotype 100188801 -609959 gene 91663 MYADM ENSG00000179820 -609960 gene 9933 PUM3 ENSG00000080608 -609961 gene 57824 HMHB1 ENSG00000158497 -609962 gene 26253 CLEC4E ENSG00000166523 -609963 gene 337876 CHSY3 ENSG00000198108 -609964 gene 338339 CLEC4D ENSG00000166527 -609965 phenotype 353347 -609966 gene 199720 GGN ENSG00000179168 -609967 gene 199786 NIBAN3 ENSG00000167483 -609968 phenotype -609969 gene 374897 SBSN ENSG00000189001 -609970 gene 54626 HES2 ENSG00000069812 -609971 gene 390992 HES3 ENSG00000173673 -609972 gene 10965 ACOT2 ENSG00000119673 -609973 gene 57657 HCN3 ENSG00000143630 -609974 gene 1007 CDH9 ENSG00000113100 -609975 phenotype -609976 gene 64344 HIF3A ENSG00000124440 -609977 gene 55143 CDCA8 ENSG00000134690 -609978 gene 93664 CADPS2 ENSG00000081803 -609979 gene 245806 VGLL2 ENSG00000170162 -609980 gene 389136 VGLL3 ENSG00000206538 -609981 phenotype -609982 gene 27183 VPS4A ENSG00000132612 -609983 gene 9525 VPS4B ENSG00000119541 -609984 gene 55055 ZWILCH ENSG00000174442 -609985 phenotype 677663 -609986 gene 84674 CARD6 ENSG00000132357 -609987 gene 346673 STRA8 ENSG00000146857 -609988 gene 27068 PPA2 ENSG00000138777 -609989 phenotype -609990 phenotype -609991 gene 84624 FNDC1 ENSG00000164694 -609992 gene 51367 POP5 ENSG00000167272 -609993 phenotype -609994 phenotype 594832 -609995 phenotype 664780 -609996 gene 340267 COL28A1 ENSG00000215018 -609997 gene 84681 HINT2 ENSG00000137133 -609998 gene 135114 HINT3 ENSG00000111911 -609999 gene 646658 SYNDIG1L ENSG00000183379 -610000 gene 55165 CEP55 ENSG00000138180 -610001 predominantly phenotypes -610002 gene 81578 COL21A1 ENSG00000124749 -610003 phenotype -610004 gene 84570 COL25A1 ENSG00000188517 -610005 gene 23043 TNIK ENSG00000154310 -610006 phenotype -610007 gene 55716 LMBR1L ENSG00000139636 -610008 gene 22901 ARSG ENSG00000141337 -610009 gene 340075 ARSI ENSG00000183876 -610010 gene 79642 ARSJ ENSG00000180801 -610011 gene 153642 ARSK ENSG00000164291 -610012 gene 23213 SULF1 ENSG00000137573 -610013 gene 55959 SULF2 ENSG00000196562 -610014 gene 80213 TM2D3 ENSG00000184277 -610015 phenotype -610016 gene 406921 MIR132 ENSG00000267200 -610017 phenotype -610018 gene 55701 ARHGEF40 ENSG00000165801 -610019 phenotype -610020 gene 83874 TBC1D10A ENSG00000099992 -610021 phenotype -610022 gene 55930 MYO5C ENSG00000128833 -610023 predominantly phenotypes -610024 phenotype -610025 gene 255631 COL24A1 ENSG00000171502 -610026 gene 169044 COL22A1 ENSG00000169436 -610027 gene 112936 VPS26B ENSG00000151502 -610028 gene 54625 PARP14 ENSG00000173193 -610029 gene 7419 VDAC3 ENSG00000078668 -610030 gene 7418 VDAC1P4 -610031 phenotype -610032 gene 23534 TNPO3 ENSG00000064419 -610033 gene 553115 PEF1 ENSG00000162517 -610034 gene 65082 VPS33A ENSG00000139719 -610035 gene 11311 VPS45 ENSG00000136631 -610036 gene 149461 CLDN19 ENSG00000164007 -610037 gene 79720 VPS37B ENSG00000139722 -610038 gene 55048 VPS37C ENSG00000167987 -610039 gene 155382 VPS37D ENSG00000176428 -610040 gene 140469 MYO3B ENSG00000071909 -610041 gene 54602 NDFIP2 ENSG00000102471 -610042 phenotype -610043 gene 91522 COL23A1 ENSG00000050767 -610044 gene 343450 KCNT2 ENSG00000162687 -610045 gene 7915 ALDH5A1 ENSG00000112294 -610046 gene 206338 LVRN ENSG00000172901 -610047 gene 245812 CNPY4 ENSG00000166997 -610048 phenotype -610049 gene 84324 SARNP ENSG00000205323 -610050 gene 84000 TMPRSS13 ENSG00000137747 -610051 gene 29082 CHMP4A ENSG00000254505 -610052 gene 51652 CHMP3 ENSG00000115561 -610053 gene 85378 TUBGCP6 ENSG00000128159 -610054 gene 9555 MACROH2A1 ENSG00000113648 -610055 gene 54862 CC2D1A ENSG00000132024 -610056 gene 9552 SPAG7 ENSG00000091640 -610057 gene 9524 TECR ENSG00000099797 -610058 gene 6902 TBCA ENSG00000171530 -610059 gene 9553 MRPL33 ENSG00000243147 -610060 gene 9533 POLR1C ENSG00000171453 -610061 gene 56171 DNAH7 ENSG00000118997 -610062 gene 83544 DNAL1 ENSG00000119661 -610063 gene 8632 DNAH17 ENSG00000187775 -610064 phenotype 100188802 -610065 phenotype 100188803 -610066 phenotype 100188804 -610067 gene 399687 MYO18A ENSG00000196535 -610068 gene 65010 SLC26A6 ENSG00000225697 -610069 phenotype -610070 gene 79884 MAP9 ENSG00000164114 -610071 phenotype 780919 -610072 gene 57471 ERMN ENSG00000136541 -610073 gene 94101 ORMDL1 ENSG00000128699 -610074 gene 29095 ORMDL2 ENSG00000123353 -610075 gene 94103 ORMDL3 ENSG00000172057 -610076 gene 23552 CDK20 ENSG00000156345 -610077 gene 28984 RGCC ENSG00000102760 -610078 gene 23515 MORC3 ENSG00000159256 -610079 gene 54414 SIAE ENSG00000110013 -610080 gene 83941 TM2D1 ENSG00000162604 -610081 gene 83877 TM2D2 ENSG00000169490 -610082 gene 29116 MYLIP ENSG00000007944 -610083 gene 55714 TENM3 ENSG00000218336 -610084 gene 26011 TENM4 ENSG00000149256 -610085 gene 83648 FAM167A ENSG00000154319 -610086 gene 56341 PRMT8 ENSG00000111218 -610087 gene 54496 PRMT7 ENSG00000132600 -610088 gene 56944 OLFML3 ENSG00000116774 -610089 gene 60561 RINT1 ENSG00000135249 -610090 phenotype -610091 gene 26118 WSB1 ENSG00000109046 -610092 phenotype -610093 phenotype -610094 gene 50619 DEF6 ENSG00000023892 -610095 gene 115653 KIR3DL3 ENSG00000242019 -610096 gene 91937 TIMD4 ENSG00000145850 -610097 gene 146852 ODF4 ENSG00000184650 -610098 gene 254394 MCM9 ENSG00000111877 -610099 phenotype 780920 -610100 phenotype -610101 gene 51076 CUTC ENSG00000119929 -610102 phenotype -610103 gene 170591 S100Z ENSG00000171643 -610104 gene 406911 MIR125B1 ENSG00000207971 -610105 gene 406912 MIR125B2 ENSG00000207863 -610106 gene 28988 DBNL ENSG00000136279 -610107 gene 55644 OSGEP ENSG00000092094 -610108 gene 55107 ANO1 ENSG00000131620 -610109 gene 57101 ANO2 ENSG00000047617 -610110 gene 63982 ANO3 ENSG00000134343 -610111 gene 121601 ANO4 ENSG00000151572 -610112 gene 80790 CMIP ENSG00000153815 -610113 gene 54507 ADAMTSL4 ENSG00000143382 -610114 phenotype 100037266 -610115 gene 55706 NDC1 ENSG00000058804 -610116 gene 9934 P2RY14 ENSG00000174944 -610117 gene 284129 SLC26A11 ENSG00000181045 -610118 gene 2856 GPR33 ENSG00000214943 -610119 gene 57451 TENM2 ENSG00000145934 -610120 gene 340348 TSPAN33 ENSG00000158457 -610121 gene 170572 HTR3C ENSG00000178084 -610122 gene 200909 HTR3D ENSG00000186090 -610123 gene 285242 HTR3E ENSG00000186038 -610124 gene 166012 CHST13 ENSG00000180767 -610125 phenotype -610126 moved/removed -610127 phenotype -610128 gene 50515 CHST11 ENSG00000171310 -610129 gene 55501 CHST12 ENSG00000136213 -610130 gene 10861 SLC26A1 ENSG00000145217 -610131 phenotype -610132 gene 81839 VANGL1 ENSG00000173218 -610133 gene 256435 ST6GALNAC3 ENSG00000184005 -610134 gene 81849 ST6GALNAC5 ENSG00000117069 -610135 gene 30815 ST6GALNAC6 ENSG00000160408 -610136 predominantly phenotypes -610137 gene 10610 ST6GALNAC2 ENSG00000070731 -610138 gene 55808 ST6GALNAC1 ENSG00000070526 -610139 gene 338596 ST8SIA6 ENSG00000148488 -610140 phenotype -610141 phenotype 100379215 -610142 gene 80184 CEP290 ENSG00000198707 -610143 phenotype 692220 -610144 gene 414059 TBC1D3B ENSG00000274808 -610145 gene 9718 ECE2 ENSG00000145194 -610146 gene 51214 IGF2-AS ENSG00000099869 -610147 gene 151306 GPBAR1 ENSG00000179921 -610148 gene 79738 BBS10 ENSG00000179941 -610149 phenotype -610150 gene 22948 CCT5 ENSG00000150753 -610151 gene 23173 METAP1 ENSG00000164024 -610152 gene 79019 CENPM ENSG00000100162 -610153 phenotype -610154 phenotype -610155 phenotype -610156 phenotype -610157 predominantly phenotypes -610158 phenotype 100188278 -610159 gene 167465 ZNF366 ENSG00000178175 -610160 gene 195828 ZNF367 ENSG00000165244 -610161 gene 83741 TFAP2D ENSG00000008197 -610162 gene 79140 CCDC28B ENSG00000160050 -610163 phenotype -610164 gene 406924 MIR134 ENSG00000207993 -610165 gene 79712 GTDC1 ENSG00000121964 -610166 gene 9922 IQSEC1 ENSG00000144711 -610167 gene 29085 PHPT1 ENSG00000054148 -610168 phenotype -610169 gene 54617 INO80 ENSG00000128908 -610170 phenotype 780921 -610171 gene 163688 CALML6 ENSG00000169885 -610172 gene 79925 SPEF2 ENSG00000152582 -610173 gene 406902 MIR10A ENSG00000284038 -610174 gene 92181 UBTD2 ENSG00000168246 -610175 gene 406919 MIR130A ENSG00000208009 -610176 gene 147199 SCGB1C1 ENSG00000188076 -610177 gene 64782 AEN ENSG00000181026 -610178 gene 9786 KIAA0586 ENSG00000100578 -610179 gene 151056 PLB1 ENSG00000163803 -610180 gene 26578 OSTF1 ENSG00000134996 -610181 phenotype -610182 gene 54873 PALMD ENSG00000099260 -610183 gene 54469 ZFAND6 ENSG00000086666 -610184 gene 346606 MOGAT3 ENSG00000106384 -610185 phenotype -610186 gene 377630 USP17L2 ENSG00000223443 -610187 phenotype -610188 phenotype -610189 phenotype -610190 gene 64377 CHST8 ENSG00000124302 -610191 gene 83539 CHST9 ENSG00000154080 -610192 gene 169792 GLIS3 ENSG00000107249 -610193 phenotype -610194 gene 148789 B3GALNT2 ENSG00000162885 -610195 gene 53635 PTOV1 ENSG00000104960 -610196 gene 255520 ELMOD2 ENSG00000179387 -610197 gene 81857 MED25 ENSG00000104973 -610198 phenotype -610199 phenotype -610200 gene 28998 MRPL13 ENSG00000172172 -610201 gene 22832 CEP162 ENSG00000135315 -610202 phenotype -610203 gene -610204 phenotype -610205 phenotype -610206 gene 83959 SLC4A11 ENSG00000088836 -610207 gene 83697 SLC4A9 ENSG00000113073 -610208 phenotype 117204002 -610209 phenotype 117204003 -610210 gene 84232 MAF1 ENSG00000179632 -610211 gene 81892 SLIRP ENSG00000119705 -610212 phenotype -610213 phenotype 724058 -610214 gene 80267 EDEM3 ENSG00000116406 -610215 gene 115557 ARHGEF25 ENSG00000240771 -610216 gene 57719 ANO8 ENSG00000074855 -610217 phenotype -610218 gene 29115 SAP30BP ENSG00000161526 -610219 gene 494513 PJVK ENSG00000204311 -610220 phenotype -610221 gene 84335 AKT1S1 ENSG00000204673 -610222 gene 54453 RIN2 ENSG00000132669 -610223 gene 79890 RIN3 ENSG00000100599 -610224 gene 402381 SOHLH1 ENSG00000165643 -610225 gene 91582 RPS19BP1 ENSG00000187051 -610226 gene 79755 ZNF750 ENSG00000141579 -610227 phenotype -610228 gene 92291 CAPN13 ENSG00000162949 -610229 gene 440854 CAPN14 ENSG00000214711 -610230 gene 55687 TRMU ENSG00000100416 -610231 gene 84759 PCGF1 ENSG00000115289 -610232 gene 79572 ATP13A3 ENSG00000133657 -610233 moved/removed -610234 phenotype 780922 -610235 gene 51537 MTFP1 ENSG00000242114 -610236 gene 80856 LNPK ENSG00000144320 -610237 gene 90390 MED30 ENSG00000164758 -610238 gene 115584 SLC5A11 ENSG00000158865 -610239 phenotype 100188806 -610240 gene 375323 LHFPL4 ENSG00000156959 -610241 gene 140545 RNF32 ENSG00000105982 -610242 gene 100506380 RNF32-DT ENSG00000182648 -610243 gene 118813 ZFYVE27 ENSG00000155256 -610244 phenotype -610245 phenotype -610246 phenotype -610247 phenotype 100302511 -610248 phenotype 692219 -610249 gene 23275 POFUT2 ENSG00000186866 -610250 phenotype -610251 phenotype -610252 gene 406905 MIR1-2 ENSG00000284453 -610253 phenotype -610254 gene 406922 MIR133A1 ENSG00000283927 -610255 gene 406923 MIR133A2 ENSG00000284508 -610256 phenotype -610257 gene 22872 SEC31A ENSG00000138674 -610258 gene 25956 SEC31B ENSG00000075826 -610259 gene 727699 LINC00163 ENSG00000234880 -610260 phenotype 780923 -610261 phenotype 100188807 -610262 phenotype 100188808 -610263 gene 374407 DNAJB13 ENSG00000187726 -610264 gene 374739 TEPP ENSG00000159648 -610265 phenotype -610266 gene 57551 TAOK1 ENSG00000160551 -610267 gene 254042 METAP1D ENSG00000172878 -610268 gene 116255 MOGAT1 ENSG00000124003 -610269 moved/removed -610270 gene 80168 MOGAT2 ENSG00000166391 -610271 gene 94005 PIGS ENSG00000087111 -610272 gene 51604 PIGT ENSG00000124155 -610273 gene 93183 PIGM ENSG00000143315 -610274 gene 55650 PIGV ENSG00000060642 -610275 gene 284098 PIGW ENSG00000277161 -610276 gene 54965 PIGX ENSG00000163964 -610277 gene 84876 ORAI1 -610278 gene 375033 PEAR1 ENSG00000187800 -610279 phenotype -610280 gene 344901 OSTN ENSG00000188729 -610281 gene 643836 ZFP62 ENSG00000196670 -610282 phenotype -610283 phenotype -610284 gene 51601 LIPT1 ENSG00000144182 -610285 gene 285489 DOK7 ENSG00000175920 -610286 gene 51451 LCMT1 ENSG00000205629 -610287 gene 79176 FBXL15 ENSG00000107872 -610288 gene 342096 GOLGA6A ENSG00000159289 -610289 gene 64064 OXCT2 ENSG00000198754 -610290 gene 79695 GALNT12 ENSG00000119514 -610291 gene 22987 SV2C ENSG00000122012 -610292 gene 55024 BANK1 ENSG00000153064 -610293 phenotype -610294 phenotype 100462722 -610295 phenotype 100462723 -610296 gene 23386 NUDCD3 ENSG00000015676 -610297 phenotype -610298 gene 90102 PHLDB2 ENSG00000144824 -610299 gene 388662 SLC6A17 ENSG00000197106 -610300 gene 348932 SLC6A18 ENSG00000164363 -610301 gene 55219 MACO1 ENSG00000204178 -610302 gene 55741 EDEM2 ENSG00000088298 -610303 gene 389692 MAFA ENSG00000182759 -610304 gene 51009 DERL2 ENSG00000072849 -610305 gene 91319 DERL3 ENSG00000099958 -610306 gene 255743 NPNT ENSG00000168743 -610307 gene 64781 CERK ENSG00000100422 -610308 gene 145173 B3GLCT ENSG00000187676 -610309 gene 27338 UBE2S ENSG00000108106 -610310 gene 152586 MGAT4D ENSG00000205301 -610311 gene 80306 MED28 ENSG00000118579 -610312 gene 55124 PIWIL2 ENSG00000197181 -610313 phenotype -610314 gene 440822 PIWIL3 ENSG00000184571 -610315 gene 143689 PIWIL4 ENSG00000134627 -610316 gene 87178 PNPT1 ENSG00000138035 -610317 gene 23242 COBL ENSG00000106078 -610318 gene 22837 COBLL1 ENSG00000082438 -610319 predominantly phenotypes -610320 phenotype 100359407 -610321 phenotype 100188809 -610322 gene 55809 TRERF1 ENSG00000124496 -610323 gene 92140 MTDH ENSG00000147649 -610324 gene 54995 OXSM ENSG00000151093 -610325 gene 10726 NUDC ENSG00000090273 -610326 gene 79621 RNASEH2B ENSG00000136104 -610327 gene 80230 RUFY1 ENSG00000176783 -610328 gene 55680 RUFY2 ENSG00000204130 -610329 phenotype -610330 gene 84153 RNASEH2C ENSG00000172922 -610331 gene 55502 HES6 ENSG00000144485 -610332 moved/removed -610333 phenotype -610334 gene 55365 TMEM176A ENSG00000002933 -610335 gene 51230 PHF20 ENSG00000025293 -610336 gene 126567 C2CD4C ENSG00000183186 -610337 gene 55665 URGCP ENSG00000106608 -610338 predominantly phenotypes -610339 gene 64175 P3H1 ENSG00000117385 -610340 gene 54566 EPB41L4B ENSG00000095203 -610341 gene 55214 P3H2 ENSG00000090530 -610342 gene 10536 P3H3 ENSG00000110811 -610343 gene 145741 C2CD4A ENSG00000198535 -610344 gene 388125 C2CD4B ENSG00000205502 -610345 gene 55750 AGK ENSG00000006530 -610346 gene 55664 CDC37L1 ENSG00000106993 -610347 gene 55197 RPRD1A ENSG00000141425 -610348 gene 55719 SLF2 ENSG00000119906 -610349 gene 284358 MAMSTR ENSG00000176909 -610350 gene 55180 LINS1 ENSG00000140471 -610351 gene 55671 PPP4R3A ENSG00000100796 -610352 gene 57223 PPP4R3B ENSG00000275052 -610353 phenotype -610354 gene 57589 RIC1 ENSG00000107036 -610355 gene 79728 PALB2 ENSG00000083093 -610356 phenotype -610357 phenotype -610358 gene 28972 SPCS1 ENSG00000114902 -610359 phenotype -610360 gene 200958 MUC20 ENSG00000176945 -610361 phenotype 100462724 -610362 gene 84839 RAX2 ENSG00000173976 -610363 gene 353238 PADI6 ENSG00000276747 -610364 gene 64114 TMBIM1 ENSG00000135926 -610365 gene 114897 C1QTNF1 ENSG00000173918 -610366 gene 26985 AP3M1 ENSG00000185009 -610367 gene 66035 SLC2A11 ENSG00000133460 -610368 gene 23143 LRCH1 ENSG00000136141 -610369 gene 51182 HSPA14 ENSG00000187522 -610370 phenotype -610371 gene 155184 SLC2A7 ENSG00000197241 -610372 gene 154091 SLC2A12 ENSG00000146411 -610373 gene 79009 DDX50 ENSG00000107625 -610374 phenotype -610375 gene 65981 CAPRIN2 ENSG00000110888 -610376 gene 57007 ACKR3 ENSG00000144476 -610377 phenotype -610378 gene 148979 GLIS1 ENSG00000174332 -610379 phenotype -610380 moved/removed -610381 phenotype -610382 phenotype -610383 gene 9182 RASSF9 ENSG00000198774 -610384 gene 23072 HECW1 ENSG00000002746 -610385 gene 28959 TMEM176B ENSG00000106565 -610386 gene 55727 BTBD7 ENSG00000011114 -610387 gene 51312 SLC25A37 ENSG00000147454 -610388 gene 28954 REM1 ENSG00000088320 -610389 gene 28956 LAMTOR2 ENSG00000116586 -610390 gene 219972 MPEG1 ENSG00000197629 -610391 gene 79948 PLPPR3 ENSG00000129951 -610392 gene 23077 MYCBP2 ENSG00000005810 -610393 gene 54856 GON4L ENSG00000116580 -610394 gene 144321 GLIPR1L2 ENSG00000180481 -610395 gene 256710 GLIPR1L1 ENSG00000173401 -610396 gene 79090 TRAPPC6A ENSG00000007255 -610397 gene 122553 TRAPPC6B ENSG00000182400 -610398 gene 79685 SAP30L ENSG00000164576 -610399 gene 28983 TMPRSS11E ENSG00000087128 -610400 gene 28992 MACROD1 ENSG00000133315 -610401 gene 59277 NTN4 ENSG00000074527 -610402 moved/removed -610403 gene 23066 CAND2 ENSG00000144712 -610404 gene 80010 RMI1 ENSG00000178966 -610405 gene 79586 CHPF ENSG00000123989 -610406 gene 7230 TRR-TCT2-1 -610407 gene 7196 TRG-GCC2-6 -610408 gene 51296 SLC15A3 ENSG00000110446 -610409 gene 23539 SLC16A8 ENSG00000100156 -610410 gene 115817 DHRS1 ENSG00000157379 -610411 gene 9670 IPO13 ENSG00000117408 -610412 gene 165679 SPTSSB ENSG00000196542 -610413 gene 347252 IGFBPL1 ENSG00000137142 -610414 gene 284565 NBPF15 ENSG00000266338 -610415 gene 252983 STXBP4 ENSG00000166263 -610416 gene 51282 SCAND1 ENSG00000171222 -610417 gene 54581 SCAND2P -610418 gene 115825 WDFY2 ENSG00000139668 -610419 phenotype -610420 phenotype 101669760 -610421 gene 10656 KHDRBS3 ENSG00000131773 -610422 phenotype 100049544 -610423 gene 23241 PACS2 ENSG00000179364 -610424 phenotype -610425 phenotype -610426 moved/removed -610427 phenotype -610428 gene 285521 COX18 ENSG00000163626 -610429 gene 90639 COX19 ENSG00000240230 -610430 phenotype 100188811 -610431 gene 26001 RNF167 ENSG00000108523 -610432 gene 54941 RNF125 ENSG00000101695 -610433 gene 58496 LY6G5B ENSG00000240053 -610434 gene 80741 LY6G5C ENSG00000204428 -610435 gene 80740 LY6G6C ENSG00000204421 -610436 gene 25914 RTTN ENSG00000176225 -610437 gene 79136 LY6G6E -610438 phenotype 100188812 -610439 phenotype 100188813 -610440 gene 27352 SGSM3 ENSG00000100359 -610441 phenotype -610442 phenotype -610443 phenotype -610444 phenotype -610445 phenotype -610446 phenotype -610447 gene 503542 SPRN ENSG00000203772 -610448 phenotype -610449 gene 23787 MTCH1 ENSG00000137409 -610450 gene 116372 LYPD1 ENSG00000150551 -610451 gene 219899 TBCEL ENSG00000154114 -610452 phenotype -610453 gene 138050 HGSNAT ENSG00000165102 -610454 gene 84445 LZTS2 ENSG00000107816 -610455 phenotype -610456 gene 54809 SAMD9 ENSG00000205413 -610457 gene 55627 SMPD4 ENSG00000136699 -610458 gene 84328 LZIC ENSG00000162441 -610459 gene 54458 PRR13 ENSG00000205352 -610460 phenotype -610461 gene 146760 RTN4RL1 ENSG00000185924 -610462 gene 349667 RTN4RL2 ENSG00000186907 -610463 gene 116150 NUS1 ENSG00000153989 -610464 gene 165829 GPR156 ENSG00000175697 -610465 gene 80221 ACSF2 ENSG00000167107 -610466 gene 167410 LIX1 ENSG00000145721 -610467 gene 9200 HACD1 ENSG00000165996 -610468 gene 10561 IFI44 ENSG00000137965 -610469 gene 10947 AP3M2 ENSG00000070718 -610470 gene 83707 TRPT1 ENSG00000149743 -610471 gene 79805 VASH2 ENSG00000143494 -610472 gene 79888 LPCAT1 ENSG00000153395 -610473 gene 9926 LPGAT1 ENSG00000123684 -610474 phenotype -610475 phenotype -610476 phenotype -610477 gene 360200 TMPRSS9 ENSG00000178297 -610478 phenotype -610479 gene 153443 SRFBP1 ENSG00000151304 -610480 gene 93273 LEMD1 ENSG00000186007 -610481 gene 56961 SHD ENSG00000105251 -610482 gene 126669 SHE ENSG00000169291 -610483 phenotype -610484 gene 9762 LZTS3 ENSG00000088899 -610485 gene 29931 LINC00312 -610486 gene 64101 LRRC4 ENSG00000128594 -610487 gene 202559 KHDRBS2 ENSG00000112232 -610488 gene 23508 TTC9 ENSG00000133985 -610489 phenotype -610490 gene 390928 ACP7 ENSG00000183760 -610491 gene 122060 SLAIN1 ENSG00000139737 -610492 gene 57606 SLAIN2 ENSG00000109171 -610493 gene 85458 DIXDC1 ENSG00000150764 -610494 gene 55827 DCAF6 ENSG00000143164 -610495 gene 25900 IFFO1 ENSG00000010295 -610496 gene 9411 ARHGAP29 ENSG00000137962 -610497 gene 9577 BABAM2 ENSG00000158019 -610498 phenotype -610499 gene 51735 RAPGEF6 ENSG00000158987 -610500 gene 54882 ANKHD1 ENSG00000131503 -610501 gene 55672 NBPF1 ENSG00000219481 -610502 gene 84816 RTN4IP1 ENSG00000130347 -610503 gene 29965 CDIP1 ENSG00000089486 -610504 phenotype -610505 phenotype -610506 gene 54623 PAF1 ENSG00000006712 -610507 gene 123169 LEO1 ENSG00000166477 -610508 phenotype -610509 gene 79608 RIC3 ENSG00000166405 -610510 gene 79866 BORA ENSG00000136122 -610511 gene 10484 SEC23A ENSG00000100934 -610512 gene 10483 SEC23B ENSG00000101310 -610513 gene 23400 ATP13A2 ENSG00000159363 -610514 gene 79960 JADE1 ENSG00000077684 -610515 gene 23338 JADE2 ENSG00000043143 -610516 gene 132158 GLYCTK ENSG00000168237 -610517 gene 79937 CNTNAP3 ENSG00000106714 -610518 gene 85445 CNTNAP4 ENSG00000152910 -610519 gene 129684 CNTNAP5 ENSG00000155052 -610520 gene 146894 CD300LG ENSG00000161649 -610521 gene 115207 KCTD12 ENSG00000178695 -610522 gene 153571 C5orf38 -610523 gene 95681 CEP41 ENSG00000106477 -610524 gene 405754 ERVFRD-1 ENSG00000244476 -610525 gene 84618 NT5C1A ENSG00000116981 -610526 gene 93034 NT5C1B ENSG00000185013 -610527 gene 81542 TMX1 ENSG00000139921 -610528 gene 57680 CHD8 ENSG00000100888 -610529 gene 286319 TUSC1 ENSG00000198680 -610530 gene 90933 TRIM41 ENSG00000146063 -610531 gene 84668 FAM126A ENSG00000122591 -610532 phenotype -610533 gene 23286 WWC1 ENSG00000113645 -610534 gene 28960 DCPS ENSG00000110063 -610535 phenotype 777643 -610536 phenotype -610537 gene 29952 DPP7 ENSG00000176978 -610538 gene 29089 UBE2T ENSG00000077152 -610539 phenotype -610540 gene 149775 GNAS-AS1 ENSG00000235590 -610541 gene 79660 PPP1R3B ENSG00000173281 -610542 phenotype -610543 phenotype -610544 gene 374918 IGFL1 ENSG00000188293 -610545 gene 147920 IGFL2 ENSG00000204866 -610546 gene 388555 IGFL3 ENSG00000188624 -610547 gene 444882 IGFL4 ENSG00000204869 -610548 gene 9716 AQR ENSG00000021776 -610549 phenotype -610550 gene 4143 MAT1A ENSG00000151224 -610551 phenotype -610552 gene 79876 UBA5 ENSG00000081307 -610553 gene 51569 UFM1 ENSG00000120686 -610554 gene 51506 UFC1 ENSG00000143222 -610555 gene 56913 C1GALT1 ENSG00000106392 -610556 gene 768096 HAR1A -610557 gene 768097 HAR1B ENSG00000231133 -610558 gene 79109 MAPKAP1 ENSG00000119487 -610559 gene 83937 RASSF4 ENSG00000107551 -610560 gene 146547 PRSS36 ENSG00000178226 -610561 gene 339105 PRSS53 ENSG00000151006 -610562 gene 80149 ZC3H12A ENSG00000163874 -610563 gene 23633 KPNA6 ENSG00000025800 -610564 gene 57107 PDSS2 ENSG00000164494 -610565 gene 10126 DNAL4 ENSG00000100246 -610566 gene 406938 MIR146A ENSG00000283733 -610567 gene 574447 MIR146B ENSG00000202569 -610568 gene 57592 ZNF687 ENSG00000143373 -610569 gene 23358 USP24 ENSG00000162402 -610570 gene 55230 USP40 ENSG00000085982 -610571 gene 51303 FKBP11 ENSG00000134285 -610572 gene 153562 MARVELD2 ENSG00000152939 -610573 gene 343637 RSPO4 ENSG00000101282 -610574 gene 84870 RSPO3 ENSG00000146374 -610575 gene 340419 RSPO2 ENSG00000147655 -610576 gene 64333 ARHGAP9 ENSG00000123329 -610577 gene 94134 ARHGAP12 ENSG00000165322 -610578 gene 55843 ARHGAP15 ENSG00000075884 -610579 gene 92241 RCSD1 ENSG00000198771 -610580 gene 415116 PIM3 ENSG00000198355 -610581 gene 53844 COPG2IT1 -610582 phenotype -610583 gene 22881 ANKRD6 ENSG00000135299 -610584 gene 440730 TRIM67 ENSG00000119283 -610585 gene 58504 ARHGAP22 ENSG00000128805 -610586 gene 83478 ARHGAP24 ENSG00000138639 -610587 gene 9938 ARHGAP25 ENSG00000163219 -610588 gene 23109 DDN ENSG00000181418 -610589 gene 9824 ARHGAP11A ENSG00000198826 -610590 gene 57636 ARHGAP23 ENSG00000275832 -610591 gene 201176 ARHGAP27 ENSG00000159314 -610592 gene 79822 ARHGAP28 ENSG00000088756 -610593 gene 79929 MAP6D1 ENSG00000180834 -610594 gene 96459 FNIP1 ENSG00000217128 -610595 gene 80308 FLAD1 ENSG00000160688 -610596 gene 23246 BOP1 ENSG00000261236 -610597 gene 83743 GRWD1 ENSG00000105447 -610598 gene 768206 PRCD ENSG00000214140 -610599 phenotype -610600 phenotype -610601 gene 55554 KLK15 ENSG00000174562 -610602 gene 121642 ALKBH2 ENSG00000189046 -610603 gene 221120 ALKBH3 ENSG00000166199 -610604 gene 548594 KIR3DP1 ENSG00000264257 -610605 gene 132864 CPEB2 ENSG00000137449 -610606 gene 22849 CPEB3 ENSG00000107864 -610607 gene 80315 CPEB4 ENSG00000113742 -610608 gene 9837 GINS1 ENSG00000101003 -610609 gene 51659 GINS2 ENSG00000131153 -610610 gene 64785 GINS3 ENSG00000181938 -610611 gene 84296 GINS4 ENSG00000147536 -610612 phenotype -610613 gene 1584 CYP11B1 ENSG00000160882 -610614 gene 84897 TBRG1 ENSG00000154144 -610615 gene 55684 RABL6 ENSG00000196642 -610616 gene 23253 ANKRD12 ENSG00000101745 -610617 gene 51514 DTL ENSG00000143476 -610618 phenotype -610619 gene 2161 F12 ENSG00000131187 -610620 gene 113622 ADPRHL1 ENSG00000153531 -610621 gene 27152 INTU ENSG00000164066 -610622 gene 80199 FUZ ENSG00000010361 -610623 phenotype -610624 gene 54936 ADPRS ENSG00000116863 -610625 gene 116969 ART5 ENSG00000167311 -610626 gene 84513 PLPP5 ENSG00000147535 -610627 gene 144568 A2ML1 ENSG00000166535 -610628 phenotype -610629 phenotype -610630 gene 26095 PTPN20 ENSG00000204179 -610631 moved/removed -610632 gene 221154 MICU2 ENSG00000165487 -610633 gene 286097 MICU3 ENSG00000155970 -610634 moved/removed -610635 gene 115908 CTHRC1 ENSG00000164932 -610636 gene 407019 MIR27B ENSG00000207864 -610637 gene 54708 MARCHF5 ENSG00000198060 -610638 gene 150084 IGSF5 ENSG00000183067 -610639 gene 392862 GRID2IP ENSG00000215045 -610640 gene 51441 YTHDF2 ENSG00000198492 -610641 gene 64852 TUT1 ENSG00000149016 -610642 gene 121506 ERP27 ENSG00000139055 -610643 gene 57650 CIP2A ENSG00000163507 -610644 phenotype -610645 gene 117286 CIB3 ENSG00000141977 -610646 gene 130106 CIB4 ENSG00000157884 -610647 gene 339983 NAT8L ENSG00000185818 -610648 gene 23316 CUX2 ENSG00000111249 -610649 phenotype 100188815 -610650 gene 11047 ADRM1 ENSG00000130706 -610651 phenotype -610652 gene 10846 PDE10A ENSG00000112541 -610653 gene 8568 RRP1 ENSG00000160214 -610654 gene 23076 RRP1B ENSG00000160208 -610655 phenotype 791087 -610656 gene 56267 KYAT3 ENSG00000137944 -610657 gene 9897 WASHC5 ENSG00000164961 -610658 gene 23650 TRIM29 ENSG00000137699 -610659 gene 2894 GRID1 ENSG00000182771 -610660 gene 84656 GLYR1 ENSG00000140632 -610661 gene 55768 NGLY1 ENSG00000151092 -610662 gene 84992 PIGY ENSG00000255072 -610663 gene 56950 SMYD2 ENSG00000143499 -610664 gene 9703 KIAA0100 ENSG00000007202 -610665 gene 2215 FCGR3B ENSG00000162747 -610666 gene 80023 NRSN2 ENSG00000125841 -610667 gene 51377 UCHL5 ENSG00000116750 -610668 gene 387755 INSC ENSG00000188487 -610669 gene 79155 TNIP2 ENSG00000168884 -610670 gene 113612 CYP2U1 ENSG00000155016 -610671 gene 89887 ZNF628 ENSG00000197483 -610672 gene 112939 NACC1 ENSG00000160877 -610673 gene 203245 NAIF1 ENSG00000171169 -610674 gene 25876 SPEF1 ENSG00000101222 -610675 gene 55850 USE1 ENSG00000053501 -610676 phenotype 100188816 -610677 gene 26065 LSM14A ENSG00000257103 -610678 phenotype -610679 gene 5218 CDK14 ENSG00000058091 -610680 predominantly phenotypes -610681 gene 5213 PFKM ENSG00000152556 -610682 phenotype -610683 gene 166379 BBS12 ENSG00000181004 -610684 gene 23399 CTDNEP1 ENSG00000175826 -610685 phenotype 791123 -610686 gene 137886 UBXN2B ENSG00000215114 -610687 phenotype -610688 phenotype -610689 gene 493913 PAPPA-AS1 ENSG00000256040 -610690 gene 26275 HIBCH ENSG00000198130 -610691 gene 158471 PRUNE2 ENSG00000106772 -610692 gene 27129 HSPB7 ENSG00000173641 -610693 gene 219844 HYLS1 ENSG00000198331 -610694 gene 54858 PGPEP1 ENSG00000130517 -610695 gene 126393 HSPB6 ENSG00000004776 -610696 gene 9768 PCLAF ENSG00000166803 -610697 gene 23037 PDZD2 ENSG00000133401 -610698 phenotype -610699 gene 90637 ZFAND2A ENSG00000178381 -610700 gene 203100 HTRA4 ENSG00000169495 -610701 gene 259217 HSPA12A ENSG00000165868 -610702 gene 116835 HSPA12B ENSG00000132622 -610703 gene 10808 HSPH1 ENSG00000120694 -610704 gene 11331 PHB2 ENSG00000215021 -610705 gene 124599 CD300LB ENSG00000178789 -610706 phenotype -610707 phenotype 140454 -610708 phenotype -610709 gene 83942 TSSK1B ENSG00000212122 -610710 gene 23617 TSSK2 ENSG00000206203 -610711 gene 283629 TSSK4 ENSG00000139908 -610712 gene 83983 TSSK6 ENSG00000178093 -610713 phenotype -610714 gene 29941 PKN3 ENSG00000160447 -610715 gene 55363 HEMGN ENSG00000136929 -610716 gene 54962 TIPIN ENSG00000075131 -610717 phenotype -610718 gene 406971 MIR195 ENSG00000284112 -610719 gene 406976 MIR199A1 ENSG00000207752 -610720 gene 406977 MIR199A2 ENSG00000208024 -610721 gene 406996 MIR214 ENSG00000283844 -610722 moved/removed -610723 gene 407011 MIR23B ENSG00000207563 -610724 gene 407013 MIR24-2 ENSG00000284387 -610725 phenotype -610726 gene 142940 TRUB1 ENSG00000165832 -610727 gene 26995 TRUB2 ENSG00000167112 -610728 gene 10924 SMPDL3A ENSG00000172594 -610729 gene 116143 DNAAF10 ENSG00000243667 -610730 gene 10693 CCT6B ENSG00000132141 -610731 gene 56311 ANKRD7 ENSG00000106013 -610732 gene 54970 TTC12 ENSG00000149292 -610733 phenotype -610734 gene 26287 ANKRD2 ENSG00000165887 -610735 gene 91977 MYOZ3 ENSG00000164591 -610736 gene 200539 ANKRD23 ENSG00000163126 -610737 gene 283455 KSR2 ENSG00000171435 -610738 phenotype -610739 gene 27327 TNRC6A ENSG00000090905 -610740 gene 23112 TNRC6B ENSG00000100354 -610741 gene 57690 TNRC6C ENSG00000078687 -610742 gene 4343 MOV10 ENSG00000155363 -610743 phenotype -610744 phenotype -610745 gene 64220 STRA6 ENSG00000137868 -610746 gene 22845 DOLK ENSG00000175283 -610747 gene 23034 SAMD4A ENSG00000020577 -610748 gene 57646 USP28 ENSG00000048028 -610749 gene 401265 KLHL31 ENSG00000124743 -610750 gene 85437 ZCRB1 ENSG00000139168 -610751 gene 56952 PRTFDC1 ENSG00000099256 -610752 gene 10090 UST ENSG00000111962 -610753 phenotype 100034703 -610754 gene 23063 WAPL ENSG00000062650 -610755 phenotype -610756 phenotype -610757 gene 9560 CCL4L2 ENSG00000276070 -610758 phenotype -610759 phenotype -610760 phenotype 100188817 -610761 phenotype 100188818 -610762 phenotype -610763 gene 140838 NANP ENSG00000170191 -610764 gene 9256 TSPOAP1 ENSG00000005379 -610765 moved/removed -610766 gene 55329 MNS1 ENSG00000138587 -610767 gene 55054 ATG16L1 ENSG00000085978 -610768 phenotype -610769 gene 64318 NOC3L ENSG00000173145 -610770 gene 26155 NOC2L ENSG00000188976 -610771 gene 26038 CHD5 ENSG00000116254 -610772 gene 157848 NKX6-3 ENSG00000165066 -610773 phenotype -610774 gene 10695 CNPY3 ENSG00000137161 -610775 gene 57103 TIGAR ENSG00000078237 -610776 gene 55332 DRAM1 ENSG00000136048 -610777 gene 25983 NGDN ENSG00000129460 -610778 gene 54584 GNB1L ENSG00000185838 -610779 gene 10101 NUBP2 ENSG00000095906 -610780 gene 55341 LSG1 ENSG00000041802 -610781 gene 51292 GMPR2 ENSG00000100938 -610782 gene 407021 MIR29A ENSG00000284032 -610783 gene 407024 MIR29B1 ENSG00000283797 -610784 gene 407026 MIR29C ENSG00000284214 -610785 gene 149420 PDIK1L ENSG00000175087 -610786 gene 80725 SRCIN1 ENSG00000277363 -610787 gene 360205 PRAC2 ENSG00000229637 -610788 gene 347734 SLC35B2 ENSG00000157593 -610789 gene 81572 PDRG1 ENSG00000088356 -610790 gene 10237 SLC35B1 ENSG00000121073 -610791 gene 124935 SLC43A2 ENSG00000167703 -610792 gene 387601 SLC22A25 ENSG00000196600 -610793 gene 253512 SLC25A30 ENSG00000174032 -610794 gene 64288 ZSCAN31 ENSG00000235109 -610795 gene 10174 SORBS3 ENSG00000120896 -610796 gene 83447 SLC25A31 ENSG00000151475 -610797 predominantly phenotypes -610798 phenotype -610799 moved/removed -610800 gene 83734 ATG10 ENSG00000152348 -610801 gene 254428 SLC41A1 ENSG00000133065 -610802 gene 84102 SLC41A2 ENSG00000136052 -610803 gene 54946 SLC41A3 ENSG00000114544 -610804 gene 23169 SLC35D1 ENSG00000116704 -610805 phenotype -610806 gene 414060 TBC1D3C ENSG00000278299 -610807 gene 101060389 TBC1D3D ENSG00000274419 -610808 gene 102723859 TBC1D3E ENSG00000278599 -610809 gene 84218 TBC1D3F ENSG00000275954 -610810 gene 101060321 TBC1D3G ENSG00000260287 -610811 gene 729877 TBC1D3H ENSG00000274226 -610812 gene 54768 HYDIN ENSG00000157423 -610813 gene 100288805 HYDIN2 -610814 moved/removed -610815 moved/removed -610816 gene 84275 SLC25A33 ENSG00000171612 -610817 gene 284723 SLC25A34 ENSG00000162461 -610818 gene 399512 SLC25A35 ENSG00000125434 -610819 gene 54977 SLC25A38 ENSG00000144659 -610820 gene 51629 SLC25A39 ENSG00000013306 -610821 gene 55972 SLC25A40 ENSG00000075303 -610822 gene 284427 SLC25A41 ENSG00000181240 -610823 gene 284439 SLC25A42 ENSG00000181035 -610824 gene 9673 SLC25A44 ENSG00000160785 -610825 gene 283130 SLC25A45 ENSG00000162241 -610826 gene 91137 SLC25A46 ENSG00000164209 -610827 gene 63925 ZNF335 ENSG00000198026 -610828 phenotype -610829 phenotype -610830 predominantly phenotypes -610831 gene 374403 TBC1D10C ENSG00000175463 -610832 phenotype -610833 gene 51126 NAA20 ENSG00000173418 -610834 gene 80218 NAA50 ENSG00000121579 -610835 gene 79664 ICE2 ENSG00000128915 -610836 phenotype 100188820 -610837 gene 83596 BCL2L12 ENSG00000126453 -610838 phenotype 100188314 -610839 phenotype 100188821 -610840 phenotype -610841 gene 57620 STIM2 ENSG00000109689 -610842 phenotype -610843 gene 29796 UQCR10 ENSG00000184076 -610844 gene 80208 SPG11 ENSG00000104133 -610845 gene 51000 SLC35B3 ENSG00000124786 -610846 gene 376132 LRRC10 ENSG00000198812 -610847 gene 79692 ZNF322 ENSG00000181315 -610848 gene 387849 REP15 ENSG00000174236 -610849 gene 284076 TTLL6 ENSG00000170703 -610850 gene 56949 XAB2 ENSG00000076924 -610851 gene 55435 AP1AR ENSG00000138660 -610852 phenotype -610853 gene 25909 AHCTF1 ENSG00000153207 -610854 moved/removed -610855 gene 22852 ANKRD26 ENSG00000107890 -610856 gene 91074 ANKRD30A ENSG00000148513 -610857 gene 118430 MUCL1 ENSG00000172551 -610858 gene 51637 RTRAF ENSG00000087302 -610859 gene 146206 CARMIL2 ENSG00000159753 -610860 gene 178 AGL ENSG00000162688 -610861 gene 161176 SYNE3 ENSG00000176438 -610862 gene 123099 DEGS2 ENSG00000168350 -610863 gene 59345 GNB4 ENSG00000114450 -610864 gene 642946 FLVCR1-DT ENSG00000198468 -610865 gene 55640 FLVCR2 ENSG00000119686 -610866 gene 54963 UCKL1 ENSG00000198276 -610867 gene 347730 LRRTM1 ENSG00000162951 -610868 gene 26045 LRRTM2 ENSG00000146006 -610869 gene 347731 LRRTM3 ENSG00000198739 -610870 gene 80059 LRRTM4 ENSG00000176204 -610871 predominantly phenotypes -610872 gene 127544 RNF19B ENSG00000116514 -610873 phenotype 100188822 -610874 gene 375686 SPATC1 ENSG00000186583 -610875 gene 22870 PPP6R1 ENSG00000105063 -610876 gene 57531 HACE1 ENSG00000085382 -610877 gene 9701 PPP6R2 ENSG00000100239 -610878 phenotype -610879 gene 55291 PPP6R3 ENSG00000110075 -610880 gene 53838 C11orf24 ENSG00000171067 -610881 gene 51111 KMT5B ENSG00000110066 -610882 gene 8636 SSNA1 ENSG00000176101 -610883 phenotype -610884 gene 91442 FAAP24 ENSG00000131944 -610885 gene 146956 EME1 ENSG00000154920 -610886 gene 197342 EME2 ENSG00000197774 -610887 gene 353497 POLN ENSG00000130997 -610888 gene 360219 -610889 gene 51194 IPO11 ENSG00000086200 -610890 gene 401190 RGS7BP ENSG00000186479 -610891 gene 399665 FAM102A ENSG00000167106 -610892 gene 401135 SYT14P1 -610893 gene 27243 CHMP2A ENSG00000130724 -610894 gene 145957 NRG4 ENSG00000169752 -610895 gene 124857 WFIKKN2 ENSG00000173714 -610896 phenotype -610897 gene 128866 CHMP4B ENSG00000101421 -610898 phenotype 100038248 -610899 gene 92421 CHMP4C ENSG00000164695 -610900 gene 51510 CHMP5 ENSG00000086065 -610901 gene 79643 CHMP6 ENSG00000176108 -610902 gene 51534 VTA1 ENSG00000009844 -610903 gene 51028 VPS36 ENSG00000136100 -610904 gene 11267 SNF8 ENSG00000159210 -610905 moved/removed -610906 phenotype 100188823 -610907 gene 84313 VPS25 ENSG00000131475 -610908 phenotype 100188317 -610909 gene 79892 MCMBP ENSG00000197771 -610910 phenotype -610911 gene 57514 ARHGAP31 ENSG00000031081 -610912 gene 401138 AMTN ENSG00000187689 -610913 phenotype -610914 gene 55068 ENOX1 ENSG00000120658 -610915 phenotype -610916 gene 54888 NSUN2 ENSG00000037474 -610917 gene 83871 RAB34 ENSG00000109113 -610918 gene 140606 SELENOM ENSG00000198832 -610919 gene 26164 MTG2 ENSG00000101181 -610920 gene 85865 GTPBP10 ENSG00000105793 -610921 phenotype -610922 gene 23742 NPAP1 ENSG00000185823 -610923 gene 84912 SLC35B4 ENSG00000205060 -610924 gene 10616 RBCK1 ENSG00000125826 -610925 gene 84818 IL17RC ENSG00000163702 -610926 phenotype 100188748 -610927 phenotype -610928 gene 64321 SOX17 ENSG00000164736 -610929 gene 80228 ORAI2 ENSG00000160991 -610930 gene 93129 ORAI3 ENSG00000175938 -610931 gene 57623 ZFAT ENSG00000066827 -610932 gene 5756 TWF1 ENSG00000151239 -610933 gene 90678 LRSAM1 ENSG00000148356 -610934 gene 135935 NOBOX ENSG00000106410 -610935 gene 353174 ZACN ENSG00000186919 -610936 gene 29968 PSAT1 ENSG00000135069 -610937 gene 23322 RPGRIP1L ENSG00000103494 -610938 phenotype -610939 gene 406967 MIR192 ENSG00000283926 -610940 gene 406969 MIR194-1 ENSG00000207624 -610941 gene 406970 MIR194-2 ENSG00000284155 -610942 gene 406987 MIR204 ENSG00000207935 -610943 gene 406997 MIR215 ENSG00000207590 -610944 gene 406998 MIR216A ENSG00000207798 -610945 gene 407022 MIR296 ENSG00000284040 -610946 gene 442890 MIR133B ENSG00000199080 -610947 phenotype -610948 phenotype 100188825 -610949 gene 255928 SYT14 ENSG00000143469 -610950 gene 83851 SYT16 ENSG00000139973 -610951 phenotype -610952 gene 51340 CRNKL1 ENSG00000101343 -610953 gene 80119 PIF1 ENSG00000140451 -610954 phenotype -610955 gene 27095 TRAPPC3 ENSG00000054116 -610956 gene 55157 DARS2 ENSG00000117593 -610957 gene 51067 YARS2 ENSG00000139131 -610958 gene 84803 GPAT3 ENSG00000138678 -610959 gene 494325 MIR376A1 ENSG00000283588 -610960 gene 664615 MIR376A2 ENSG00000283561 -610961 gene 574435 MIR376B ENSG00000283556 -610962 gene 23381 SMG5 ENSG00000198952 -610963 gene 23293 SMG6 ENSG00000070366 -610964 gene 9887 SMG7 ENSG00000116698 -610965 phenotype -610966 gene 79068 FTO ENSG00000140718 -610967 phenotype -610968 phenotype -610969 gene 58485 TRAPPC1 ENSG00000170043 -610970 gene 51693 TRAPPC2L ENSG00000167515 -610971 gene 51399 TRAPPC4 ENSG00000196655 -610972 gene 55966 AJAP1 ENSG00000196581 -610973 gene 143098 MPP7 ENSG00000150054 -610974 gene 25925 ZNF521 ENSG00000198795 -610975 gene 645832 SEBOX ENSG00000274529 -610976 gene 164668 APOBEC3H ENSG00000100298 -610977 gene 10227 MFSD10 ENSG00000109736 -610978 phenotype -610979 gene 9677 PPIP5K1 ENSG00000168781 -610980 gene 55539 KCNQ1DN ENSG00000237941 -610981 gene 164684 WBP2NL ENSG00000183066 -610982 gene 64423 INF2 ENSG00000203485 -610983 gene 442913 MIR376C ENSG00000283279 -610984 phenotype -610985 gene 55293 UEVLD ENSG00000151116 -610986 gene 79705 LRRK1 ENSG00000154237 -610987 gene 653308 ASAH2B ENSG00000204147 -610988 phenotype -610989 gene 22853 LMTK2 ENSG00000164715 -610990 gene 170954 PPP1R18 ENSG00000146112 -610991 gene 23363 OBSL1 ENSG00000124006 -610992 phenotype -610993 gene 84101 USP44 ENSG00000136014 -610994 gene 387521 PEDS1 ENSG00000240849 -610995 gene 51449 PCYOX1 ENSG00000116005 -610996 gene 92675 DTD1 ENSG00000125821 -610997 phenotype -610998 gene 79006 METRN ENSG00000103260 -610999 gene 80314 EPC1 ENSG00000120616 -611000 gene 26122 EPC2 ENSG00000135999 -611001 gene 64769 MEAF6 ENSG00000163875 -611002 gene 79652 TMEM204 ENSG00000131634 -611003 phenotype 100188827 -611004 phenotype 100188828 -611005 gene 51320 MEX3C ENSG00000176624 -611006 gene 81689 ISCA1 ENSG00000135070 -611007 gene 92312 MEX3A ENSG00000254726 -611008 gene 84206 MEX3B ENSG00000183496 -611009 gene 399664 MEX3D ENSG00000181588 -611010 phenotype 100124414 -611011 gene 91304 TMEM259 ENSG00000182087 -611012 gene 353299 RGSL1 ENSG00000121446 -611013 gene -611014 phenotype 100188321 -611015 phenotype -611016 phenotype -611017 gene 219743 TYSND1 ENSG00000156521 -611018 gene 400961 PAIP2B ENSG00000124374 -611019 gene 155066 ATP6V0E2 ENSG00000171130 -611020 gene 406991 MIR21 ENSG00000284190 -611021 gene 51068 NMD3 ENSG00000169251 -611022 phenotype -611023 gene 57570 TRMT5 ENSG00000126814 -611024 gene 63934 ZNF667 ENSG00000198046 -611025 gene 219670 ENKUR ENSG00000151023 -611026 gene 79152 FA2H ENSG00000103089 -611027 gene 79801 SHCBP1 ENSG00000171241 -611028 gene 55754 TMEM30A ENSG00000112697 -611029 gene 161291 TMEM30B ENSG00000182107 -611030 gene 644444 TMEM30CP ENSG00000235156 -611031 phenotype 100124415 -611032 gene 128153 SPATA17 ENSG00000162814 -611033 gene 29125 C11orf21 ENSG00000110665 -611034 gene 10786 SLC17A3 ENSG00000124564 -611035 gene 200558 APLF ENSG00000169621 -611036 gene 114134 SLC2A13 ENSG00000151229 -611037 gene 115286 SLC25A26 ENSG00000144741 -611038 phenotype -611039 gene 144195 SLC2A14 ENSG00000173262 -611040 phenotype -611041 gene 91107 TRIM47 ENSG00000132481 -611042 gene 149018 LELP1 ENSG00000203784 -611043 gene 79727 LIN28A ENSG00000131914 -611044 gene 389421 LIN28B ENSG00000187772 -611045 gene 92579 G6PC3 ENSG00000141349 -611046 phenotype 100188829 -611047 gene 154064 RAET1L ENSG00000155918 -611048 gene 23645 PPP1R15A ENSG00000087074 -611049 gene 10246 SLC17A2 ENSG00000112337 -611050 gene 767558 LUZP6 -611051 gene 152137 CCDC50 ENSG00000152492 -611052 gene 9739 SETD1A ENSG00000099381 -611053 gene 9853 RUSC2 ENSG00000198853 -611054 gene 8500 PPFIA1 ENSG00000131626 -611055 gene 23067 SETD1B ENSG00000139718 -611056 gene 51540 SCLY ENSG00000132330 -611057 moved/removed -611058 gene 51555 PEX5L ENSG00000114757 -611059 gene 80335 WDR82 ENSG00000164091 -611060 gene 26040 SETBP1 ENSG00000152217 -611061 gene 56975 FAM20C ENSG00000177706 -611062 gene 54757 FAM20A ENSG00000108950 -611063 gene 9917 FAM20B ENSG00000116199 -611064 phenotype -611065 gene 152926 PPM1K ENSG00000163644 -611066 gene 23035 PHLPP2 ENSG00000040199 -611067 phenotype -611068 gene 26807 SNORD43 ENSG00000263764 -611069 gene 116936 SNORD139 -611070 gene 116937 SNORD83A ENSG00000209482 -611071 gene 116938 SNORD83B ENSG00000209480 -611072 gene 120526 DNAJC24 ENSG00000170946 -611073 phenotype 100188830 -611074 gene 390259 BSX ENSG00000188909 -611075 gene 51611 DPH5 ENSG00000117543 -611076 gene 51559 NT5DC3 ENSG00000111696 -611077 gene 131474 CHCHD4 ENSG00000163528 -611078 gene 55871 CBWD1 ENSG00000172785 -611079 gene 150472 CBWD2 ENSG00000136682 -611080 gene 445571 CBWD3 ENSG00000196873 -611081 phenotype -611082 gene 440823 MIAT ENSG00000225783 -611083 gene 137872 ADHFE1 ENSG00000147576 -611084 gene 200350 FOXD4L1 ENSG00000184492 -611085 gene 349334 FOXD4L4 ENSG00000184659 -611086 gene 286380 FOXD4L3 ENSG00000187559 -611087 phenotype -611088 gene 85478 CCDC65 ENSG00000139537 -611089 gene 64419 MTMR14 ENSG00000163719 -611090 phenotype -611091 phenotype -611092 phenotype -611093 phenotype -611094 moved/removed -611095 phenotype 100101424 -611096 phenotype 100101425 -611097 phenotype 100101426 -611098 gene 79689 STEAP4 ENSG00000127954 -611099 gene 10130 PDIA6 ENSG00000143870 -611100 phenotype 100188834 -611101 gene 57449 PLEKHG5 ENSG00000171680 -611102 phenotype -611103 gene 28976 ACAD9 ENSG00000177646 -611104 gene 121512 FGD4 ENSG00000139132 -611105 phenotype -611106 gene 340152 ZC3H12D ENSG00000178199 -611107 phenotype 100009675 -611108 gene 375567 VWC2 ENSG00000188730 -611109 phenotype 100188835 -611110 gene 56911 MAP3K7CL ENSG00000156265 -611111 gene 340168 DPPA5 ENSG00000203909 -611112 gene 147906 DACT3 ENSG00000197380 -611113 gene 752014 CEMP1 ENSG00000205923 -611114 gene 406942 MIR150 ENSG00000207782 -611115 gene 220001 VWCE ENSG00000167992 -611116 gene 406990 MIR208A ENSG00000199157 -611117 gene 51400 PPME1 ENSG00000214517 -611118 gene 64428 CIAO3 ENSG00000103245 -611119 gene 55975 KLHL7 ENSG00000122550 -611120 gene 55304 SPTLC3 ENSG00000172296 -611121 gene 79789 CLMN ENSG00000165959 -611122 gene 23243 ANKRD28 ENSG00000206560 -611123 gene 284656 EPHA10 ENSG00000183317 -611124 gene 256471 MFSD8 ENSG00000164073 -611125 gene 92126 DSEL ENSG00000171451 -611126 phenotype -611127 gene 164153 UBL4B ENSG00000186150 -611128 gene 161357 MDGA2 ENSG00000139915 -611129 gene 54838 WBP1L ENSG00000166272 -611130 gene 91782 CHMP7 ENSG00000147457 -611131 phenotype -611132 gene 64080 RBKS ENSG00000171174 -611133 gene 25826 SNORD82 ENSG00000202400 -611134 phenotype -611135 gene 152831 KLB ENSG00000134962 -611136 phenotype -611137 gene 122706 PSMB11 ENSG00000222028 -611138 gene 55342 STRBP ENSG00000165209 -611139 phenotype 100188836 -611140 gene 9894 TELO2 ENSG00000100726 -611141 gene 142678 MIB2 ENSG00000197530 -611142 gene 9793 CKAP5 ENSG00000175216 -611143 gene 84142 ABRAXAS1 ENSG00000163322 -611144 gene 23172 ABRAXAS2 ENSG00000165660 -611145 gene 169026 SLC30A8 ENSG00000164756 -611146 gene 55532 SLC30A10 ENSG00000196660 -611147 phenotype 100188328 -611148 gene 55676 SLC30A6 ENSG00000152683 -611149 gene 148867 SLC30A7 ENSG00000162695 -611150 gene 25814 ATXN10 ENSG00000130638 -611151 gene 27037 TRMT2A ENSG00000099899 -611152 phenotype 100188837 -611153 gene 7507 XPA ENSG00000136936 -611154 phenotype 100188754 -611155 moved/removed -611156 gene 79956 ERMP1 ENSG00000099219 -611157 gene 55257 MRGBP ENSG00000101189 -611158 gene 374454 KRT77 ENSG00000189182 -611159 gene 196374 KRT78 ENSG00000170423 -611160 gene 338785 KRT79 ENSG00000185640 -611161 gene 144501 KRT80 ENSG00000167767 -611162 phenotype -611163 gene 84969 TOX2 ENSG00000124191 -611164 gene 503582 ARGFX ENSG00000186103 -611165 gene 503834 DPRX ENSG00000204595 -611166 gene 284355 TPRX1 ENSG00000178928 -611167 gene 348825 TPRXL ENSG00000180438 -611168 gene 503835 DUXA ENSG00000258873 -611169 gene 79820 CATSPERB ENSG00000133962 -611170 gene 219285 SAMD9L ENSG00000177409 -611171 gene 57698 SHTN1 ENSG00000187164 -611172 gene 407040 MIR34A ENSG00000284357 -611173 gene 494324 MIR375 ENSG00000198973 -611174 phenotype -611175 gene 29789 OLA1 ENSG00000138430 -611176 gene 51528 JKAMP ENSG00000050130 -611177 gene 57560 IFT80 ENSG00000068885 -611178 gene 85569 GALP ENSG00000197487 -611179 gene 134549 SHROOM1 ENSG00000164403 -611180 gene 25920 NELFB ENSG00000188986 -611181 gene 80724 ACAD10 ENSG00000111271 -611182 phenotype -611183 gene 55845 BRK1 ENSG00000254999 -611184 gene 9780 PIEZO1 ENSG00000103335 -611185 phenotype 100302512 -611186 gene 407046 MIR9-1 ENSG00000207933 -611187 gene 407047 MIR9-2 ENSG00000284447 -611188 gene 407051 MIR9-3 ENSG00000284329 -611189 gene 406974 MIR197 ENSG00000284443 -611190 gene 442911 MIR346 ENSG00000199104 -611191 gene 406910 MIR125A ENSG00000208008 -611192 gene 29123 ANKRD11 ENSG00000167522 -611193 gene 51018 RRP15 ENSG00000067533 -611194 gene 22902 RUFY3 ENSG00000018189 -611195 gene 152789 JAKMIP1 ENSG00000152969 -611196 gene 83637 ZMIZ2 ENSG00000122515 -611197 gene 9832 JAKMIP2 ENSG00000176049 -611198 gene 282973 JAKMIP3 ENSG00000188385 -611199 gene 30836 DNTTIP2 ENSG00000067334 -611200 gene 221400 TDRD6 ENSG00000180113 -611201 gene 55958 KLHL9 ENSG00000198642 -611202 gene 56624 ASAH2 ENSG00000188611 -611203 gene 80331 DNAJC5 ENSG00000101152 -611204 gene 440193 CCDC88C ENSG00000015133 -611205 gene 283234 CCDC88B ENSG00000168071 -611206 gene 23234 DNAJC9 ENSG00000213551 -611207 gene 64215 DNAJC1 ENSG00000136770 -611208 gene 92906 HNRNPLL ENSG00000143889 -611209 phenotype -611210 gene 55872 PBK ENSG00000168078 -611211 gene 84957 RELT ENSG00000054967 -611212 gene 768211 RELL1 ENSG00000181826 -611213 gene 285613 RELL2 ENSG00000164620 -611214 gene 55720 TSR1 ENSG00000167721 -611215 gene 791114 PWRN1 ENSG00000259905 -611216 gene 23190 UBXN4 ENSG00000144224 -611217 gene 791115 PWRN2 ENSG00000260551 -611218 gene 284110 GSDMA ENSG00000167914 -611219 gene 55898 UNC45A ENSG00000140553 -611220 gene 146862 UNC45B ENSG00000141161 -611221 gene 55876 GSDMB ENSG00000073605 -611222 phenotype -611223 gene 10000 AKT3 ENSG00000117020 -611224 gene 8802 SUCLG1 ENSG00000163541 -611225 phenotype -611226 gene 219681 ARMC3 ENSG00000165309 -611227 gene 84329 HVCN1 ENSG00000122986 -611228 phenotype -611229 gene 27248 ERLEC1 ENSG00000068912 -611230 gene 29781 NCAPH2 ENSG00000025770 -611231 gene 9073 CLDN8 ENSG00000156284 -611232 gene 9069 CLDN12 ENSG00000157224 -611233 gene 441549 CDNF ENSG00000185267 -611234 gene 151354 LRATD1 ENSG00000162981 -611235 gene 79041 TMEM38A ENSG00000072954 -611236 gene 55151 TMEM38B ENSG00000095209 -611237 gene 114781 BTBD9 ENSG00000183826 -611238 gene 79145 CHCHD7 ENSG00000170791 -611239 gene 114787 GPRIN1 ENSG00000169258 -611240 gene 9721 GPRIN2 ENSG00000204175 -611241 gene 285513 GPRIN3 ENSG00000185477 -611242 phenotype 100188839 -611243 gene 55253 TYW1 ENSG00000198874 -611244 gene 55039 TRMT12 ENSG00000183665 -611245 gene 127253 TYW3 ENSG00000162623 -611246 gene 9836 LCMT2 ENSG00000168806 -611247 phenotype 100126593 -611248 gene 116138 KLHDC3 ENSG00000124702 -611249 gene 406884 MIRLET7B ENSG00000284520 -611250 gene 406887 MIRLET7E ENSG00000198972 -611251 gene 57540 DISP3 ENSG00000204624 -611252 phenotype 724107 -611253 gene 55582 KIF27 ENSG00000165115 -611254 gene 374654 KIF7 ENSG00000166813 -611255 gene 10811 NOXA1 ENSG00000188747 -611256 gene 124056 NOXO1 ENSG00000196408 -611257 gene 121256 TMEM132D ENSG00000151952 -611258 gene 23424 TDRD7 ENSG00000196116 -611259 gene 54901 CDKAL1 ENSG00000145996 -611260 gene 79896 THNSL1 ENSG00000185875 -611261 gene 55258 THNSL2 ENSG00000144115 -611262 gene 83475 DOHH ENSG00000129932 -611263 phenotype -611264 gene 387103 CENPW ENSG00000203760 -611265 gene 85441 HELZ2 ENSG00000130589 -611266 gene 440915 POTEKP -611267 gene 143503 OR51E1 ENSG00000180785 -611268 gene 81285 OR51E2 ENSG00000167332 -611269 gene 64434 NOM1 ENSG00000146909 -611270 gene 63908 NAPB ENSG00000125814 -611271 gene 81930 KIF18A ENSG00000121621 -611272 gene 23660 ZKSCAN5 ENSG00000196652 -611273 gene 390598 SKOR1 ENSG00000188779 -611274 phenotype 777645 -611275 gene 149428 BNIPL ENSG00000163141 -611276 phenotype 399564 -611277 moved/removed -611278 gene 113220 KIF12 ENSG00000136883 -611279 gene 9928 KIF14 ENSG00000118193 -611280 gene 23588 KLHDC2 ENSG00000165516 -611281 gene 122773 KLHDC1 ENSG00000197776 -611282 gene 23268 DNMBP ENSG00000107554 -611283 phenotype -611284 phenotype -611285 gene 54442 KCTD5 ENSG00000167977 -611286 gene 8634 RTCA ENSG00000137996 -611287 gene 10175 CNIH1 ENSG00000100528 -611288 gene 254263 CNIH2 ENSG00000174871 -611289 gene 116844 LRG1 ENSG00000171236 -611290 gene 79840 NHEJ1 ENSG00000187736 -611291 phenotype -611292 gene 157807 CLVS1 ENSG00000177182 -611293 gene 79080 CCDC86 ENSG00000110104 -611294 gene 390874 ONECUT3 ENSG00000205922 -611295 gene 54800 KLHL24 ENSG00000114796 -611296 gene 389289 ANXA2R ENSG00000177721 -611297 gene 116039 OSR2 ENSG00000164920 -611298 gene 57535 ELAPOR1 ENSG00000116299 -611299 gene 55632 G2E3 ENSG00000092140 -611300 gene 55323 LARP6 ENSG00000166173 -611301 gene 80233 FAAP100 ENSG00000185504 -611302 phenotype -611303 gene 23274 CLEC16A ENSG00000038532 -611304 gene 57146 LDAF1 ENSG00000011638 -611305 gene 22885 ABLIM3 ENSG00000173210 -611306 gene 286133 SCARA5 ENSG00000168079 -611307 phenotype -611308 phenotype -611309 gene 11067 DEPP1 ENSG00000165507 -611310 gene 118672 PSTK ENSG00000179988 -611311 moved/removed -611312 gene 49860 CRNN ENSG00000143536 -611313 gene 387715 ARMS2 ENSG00000254636 -611314 gene 283651 HMGN2P46 -611315 gene 7579 ZSCAN20 ENSG00000121903 -611316 gene 84561 SLC12A8 ENSG00000221955 -611317 gene 23533 PIK3R5 ENSG00000141506 -611318 gene 116931 MED12L ENSG00000144893 -611319 gene 83982 IFI27L2 ENSG00000119632 -611320 gene 122509 IFI27L1 ENSG00000165948 -611321 gene 22883 CLSTN1 ENSG00000171603 -611322 gene 10294 DNAJA2 ENSG00000069345 -611323 gene 64084 CLSTN2 ENSG00000158258 -611324 gene 9746 CLSTN3 ENSG00000139182 -611325 gene 9238 TBRG4 ENSG00000136270 -611326 gene 9236 CCPG1 ENSG00000260916 -611327 gene 11080 DNAJB4 ENSG00000162616 -611328 gene 25822 DNAJB5 ENSG00000137094 -611329 gene 677765 SCARNA18 ENSG00000238835 -611330 gene 677800 SNORA12 ENSG00000212464 -611331 gene 677841 SNORA74B ENSG00000212402 -611332 gene 10049 DNAJB6 ENSG00000105993 -611333 gene 677826 SNORA3B ENSG00000212607 -611334 gene 677847 SNORA81 ENSG00000221420 -611335 gene 677796 SNORA5C ENSG00000201772 -611336 gene 150353 DNAJB7 ENSG00000172404 -611337 gene 165721 DNAJB8 ENSG00000179407 -611338 gene 23192 ATG4B ENSG00000168397 -611339 gene 84938 ATG4C ENSG00000125703 -611340 gene 84971 ATG4D ENSG00000130734 -611341 gene 51726 DNAJB11 ENSG00000090520 -611342 gene 84267 C9orf64 ENSG00000165118 -611343 gene 414328 IDNK ENSG00000148057 -611344 gene 158158 RASEF ENSG00000165105 -611345 gene 26173 INTS1 ENSG00000164880 -611346 gene 57508 INTS2 ENSG00000108506 -611347 gene 65123 INTS3 ENSG00000143624 -611348 gene 92105 INTS4 ENSG00000149262 -611349 gene 80789 INTS5 ENSG00000185085 -611350 gene 25896 INTS7 ENSG00000143493 -611351 gene 55656 INTS8 ENSG00000164941 -611352 gene 55756 INTS9 ENSG00000104299 -611353 gene 55174 INTS10 ENSG00000104613 -611354 gene 54973 INTS11 ENSG00000127054 -611355 gene 57117 INTS12 ENSG00000138785 -611356 gene 80318 GKAP1 ENSG00000165113 -611357 gene 55603 TENT5A ENSG00000112773 -611358 gene 84282 RNF135 ENSG00000181481 -611359 gene 55626 AMBRA1 ENSG00000110497 -611360 gene 55215 FANCI ENSG00000140525 -611361 gene 55236 UBA6 ENSG00000033178 -611362 gene 65264 UBE2Z ENSG00000159202 -611363 phenotype -611364 phenotype 100126594 -611365 gene 653659 TMEM183BP ENSG00000224831 -611366 gene 60314 MYG1 ENSG00000139637 -611367 gene 23549 DNPEP ENSG00000123992 -611368 gene 84944 MAEL ENSG00000143194 -611369 phenotype -611370 gene 55277 FGGY ENSG00000172456 -611371 gene 115950 ZNF653 ENSG00000161914 -611372 gene 60682 SMAP1 ENSG00000112305 -611373 gene 116842 LEAP2 ENSG00000164406 -611374 gene 407041 MIR34B ENSG00000207811 -611375 gene 407042 MIR34C ENSG00000207562 -611376 phenotype -611377 phenotype -611378 phenotype -611379 gene 57609 DIP2B ENSG00000066084 -611380 gene 22982 DIP2C ENSG00000151240 -611381 phenotype 101241898 -611382 phenotype 101241899 -611383 phenotype -611384 phenotype 101910199 -611385 moved/removed -611386 gene 23394 ADNP ENSG00000101126 -611387 gene 284340 CXCL17 ENSG00000189377 -611388 gene 116092 DNTTIP1 ENSG00000101457 -611389 gene 29964 PRICKLE4 ENSG00000278224 -611390 phenotype -611391 phenotype -611392 gene 84890 ADO ENSG00000181915 -611393 gene 83541 FAM110A ENSG00000125898 -611394 gene 90362 FAM110B ENSG00000169122 -611395 gene 642273 FAM110C ENSG00000184731 -611396 gene 149685 ADIG ENSG00000182035 -611397 gene 85461 TANC1 ENSG00000115183 -611398 gene 246176 GAS2L2 ENSG00000270765 -611399 gene 132320 SCLT1 ENSG00000151466 -611400 gene 100124700 HOTAIR ENSG00000228630 -611401 gene 29113 C6orf15 ENSG00000204542 -611402 gene 220164 DOK6 ENSG00000206052 -611403 phenotype 100188840 -611404 gene 259215 LY6G6F ENSG00000204424 -611405 gene 10171 RCL1 ENSG00000120158 -611406 gene 1783 DYNC1LI2 ENSG00000135720 -611407 phenotype -611408 gene 167691 LCA5 ENSG00000135338 -611409 gene 4948 OCA2 ENSG00000104044 -611410 gene 9750 RIPOR2 ENSG00000111913 -611411 gene 84254 CAMKK1 ENSG00000004660 -611412 gene 80896 NPL ENSG00000135838 -611413 gene 58512 DLGAP3 ENSG00000116544 -611414 gene 125972 CALR3 ENSG00000269058 -611415 gene 10714 POLD3 ENSG00000077514 -611416 gene 27324 TOX3 ENSG00000103460 -611417 gene 129049 SGSM1 ENSG00000167037 -611418 gene 9905 SGSM2 ENSG00000141258 -611419 gene 221491 SMIM29 ENSG00000186577 -611420 gene 25792 CIZ1 ENSG00000148337 -611421 gene 10847 SRCAP ENSG00000080603 -611422 gene 84057 MND1 ENSG00000121211 -611423 gene 9662 CEP135 ENSG00000174799 -611424 gene 116225 ZMYND19 ENSG00000165724 -611425 gene 116840 CNTROB ENSG00000170037 -611426 predominantly phenotypes -611427 gene 25902 MTHFD1L ENSG00000120254 -611428 gene 29980 DONSON ENSG00000159147 -611429 gene 339883 APRG1 ENSG00000198590 -611430 gene 199223 TTC21A ENSG00000168026 -611431 phenotype -611432 gene 81704 DOCK8 ENSG00000107099 -611433 gene 55359 STYK1 ENSG00000060140 -611434 gene 116449 CLNK ENSG00000109684 -611435 gene 79930 DOK3 ENSG00000146094 -611436 gene 377677 CA13 ENSG00000185015 -611437 gene 142679 DUSP19 ENSG00000162999 -611438 gene 167838 TXLNB ENSG00000164440 -611439 gene 9278 ZBTB22 ENSG00000236104 -611440 gene 9277 WDR46 ENSG00000227057 -611441 gene 26584 DUX1 -611442 gene 26583 DUX4L8 ENSG00000281720 -611443 gene 26582 DUX3 -611444 gene 26581 DUX5 -611445 gene 26052 DNM3 ENSG00000197959 -611446 gene 150290 DUSP18 ENSG00000167065 -611447 gene 51087 YBX2 ENSG00000006047 -611448 gene 9790 BMS1 ENSG00000165733 -611449 gene 64328 XPO4 ENSG00000132953 -611450 gene 54899 PXK ENSG00000168297 -611451 phenotype -611452 moved/removed -611453 gene 55861 DBNDD2 ENSG00000244274 -611454 moved/removed -611455 gene 148930 KNCN ENSG00000162456 -611456 phenotype 101027378 -611457 gene 100132074 FOXO6 -611458 gene 2720 GLB1 ENSG00000170266 -611459 gene 84068 SLC10A7 ENSG00000120519 -611460 gene 127262 TPRG1L ENSG00000158109 -611461 gene 51310 SLC22A17 ENSG00000092096 -611462 gene 146850 PIK3R6 ENSG00000276231 -611463 gene 112483 SAT2 ENSG00000141504 -611464 gene 84315 MON1A ENSG00000164077 -611465 phenotype -611466 gene 9842 PLEKHM1 ENSG00000225190 -611467 gene 115362 GBP5 ENSG00000154451 -611468 gene 497258 BDNF-AS ENSG00000245573 -611469 phenotype 100188841 -611470 gene 51557 LGSN ENSG00000146166 -611471 gene 51205 ACP6 ENSG00000162836 -611472 gene 55777 MBD5 ENSG00000204406 -611473 gene 790952 ESRG ENSG00000265992 -611474 gene 117245 PLAAT5 ENSG00000168004 -611475 gene 26015 RPAP1 ENSG00000103932 -611476 gene 79871 RPAP2 ENSG00000122484 -611477 gene 79657 RPAP3 ENSG00000005175 -611478 gene 56257 MEPCE ENSG00000146834 -611479 gene 11321 GPN1 ENSG00000198522 -611480 gene 55011 PIH1D1 ENSG00000104872 -611481 gene 402682 UFSP1 ENSG00000176125 -611482 gene 55325 UFSP2 ENSG00000109775 -611483 gene 81555 YIPF5 ENSG00000145817 -611484 gene 10897 YIF1A ENSG00000174851 -611485 gene 66002 CYP4F12 ENSG00000186204 -611486 gene 93426 SYCE1 ENSG00000171772 -611487 gene 256126 SYCE2 ENSG00000161860 -611488 phenotype -611489 phenotype -611490 phenotype -611491 gene 55698 RADIL ENSG00000157927 -611492 gene 760 CA2 ENSG00000104267 -611493 phenotype -611494 phenotype 100188842 -611495 gene 126410 CYP4F22 ENSG00000171954 -611496 gene 140628 GATA5 ENSG00000130700 -611497 phenotype -611498 phenotype -611499 gene 2990 GUSB ENSG00000169919 -611500 gene 407002 MIR219A1 ENSG00000199036 -611501 gene 23261 CAMTA1 ENSG00000171735 -611502 gene 64105 CENPK ENSG00000123219 -611503 gene 91687 CENPL ENSG00000120334 -611504 gene 79172 CENPO ENSG00000138092 -611505 gene 401541 CENPP ENSG00000188312 -611506 gene 55166 CENPQ ENSG00000031691 -611507 gene 493856 CISD2 ENSG00000145354 -611508 gene 23125 CAMTA2 ENSG00000108509 -611509 gene 55839 CENPN ENSG00000166451 -611510 gene 80152 CENPT ENSG00000102901 -611511 gene 79682 CENPU ENSG00000151725 -611512 gene 55818 KDM3A ENSG00000115548 -611513 gene 63974 NEUROD6 ENSG00000164600 -611514 gene 79971 WLS ENSG00000116729 -611515 phenotype 100049160 -611516 gene 84276 NICN1 ENSG00000145029 -611517 gene 57834 CYP4F11 ENSG00000171903 -611518 gene 55619 DOCK10 ENSG00000135905 -611519 gene 26073 POLDIP2 ENSG00000004142 -611520 gene 84271 POLDIP3 ENSG00000100227 -611521 phenotype -611522 phenotype -611523 phenotype -611524 gene 57038 RARS2 ENSG00000146282 -611525 gene 57804 POLD4 ENSG00000175482 -611526 gene 8602 NOP14 ENSG00000087269 -611527 gene 150159 SLC9B1 ENSG00000164037 -611528 phenotype -611529 gene 29785 CYP2S1 ENSG00000167600 -611530 gene 57486 NLN ENSG00000123213 -611531 gene 10436 EMG1 ENSG00000126749 -611532 gene 65083 NOL6 ENSG00000165271 -611533 gene 51406 NOL7 ENSG00000225921 -611534 gene 55035 NOL8 ENSG00000198000 -611535 phenotype 100188843 -611536 phenotype 100188844 -611537 gene 56259 CTNNBL1 ENSG00000132792 -611538 gene 125958 OR7D4 ENSG00000174667 -611539 gene 27022 FOXD3 ENSG00000187140 -611540 gene 84251 SGIP1 ENSG00000118473 -611541 gene 81609 SNX27 ENSG00000143376 -611542 gene 411 ARSB ENSG00000113273 -611543 phenotype -611544 phenotype -611545 gene 11283 CYP4F8 ENSG00000186526 -611546 gene 79071 ELOVL6 ENSG00000170522 -611547 phenotype -611548 phenotype -611549 gene 259232 NALCN ENSG00000102452 -611550 gene 259197 NCR3 ENSG00000204475 -611551 gene 129804 FBLN7 ENSG00000144152 -611552 gene 93100 NAPRT ENSG00000147813 -611553 phenotype -611554 phenotype -611555 predominantly phenotypes -611556 phenotype -611557 gene 11045 UPK1A ENSG00000105668 -611558 gene 7379 UPK2 ENSG00000110375 -611559 gene 7380 UPK3A ENSG00000100373 -611560 phenotype -611561 phenotype -611562 gene 124404 SEPTIN12 ENSG00000140623 -611563 gene 641977 SEPTIN7P2 ENSG00000214765 -611564 gene 54971 BANP ENSG00000172530 -611565 gene 84162 KIAA1109 ENSG00000138688 -611566 gene 221823 PRPS1L1 ENSG00000229937 -611567 gene 140733 MACROD2 ENSG00000172264 -611568 gene 55638 SYBU ENSG00000147642 -611569 gene 26586 CKAP2 ENSG00000136108 -611570 gene 2203 FBP1 ENSG00000165140 -611571 phenotype 286751 -611572 phenotype 399516 -611573 gene 259230 SGMS1 ENSG00000198964 -611574 gene 166929 SGMS2 ENSG00000164023 -611575 gene 142891 SAMD8 ENSG00000156671 -611576 gene 406903 MIR10B ENSG00000207744 -611577 gene 23135 KDM6B ENSG00000132510 -611578 gene 391059 FRRS1 ENSG00000156869 -611579 gene 283953 TMEM114 ENSG00000232258 -611580 gene 10876 EDDM3A ENSG00000181562 -611581 moved/removed -611582 gene 64184 EDDM3B ENSG00000181552 -611583 gene 10865 ARID5A ENSG00000196843 -611584 phenotype -611585 gene 54997 TESC ENSG00000088992 -611586 gene 10882 C1QL1 ENSG00000131094 -611587 gene 84986 ARHGAP19 ENSG00000213390 -611588 phenotype -611589 gene 150379 PNPLA5 ENSG00000100341 -611590 phenotype -611591 gene 10895 PPBPP2 ENSG00000248848 -611592 gene 10667 FARS2 ENSG00000145982 -611593 gene 10879 SMR3B ENSG00000171201 -611594 gene 10713 USP39 ENSG00000168883 -611595 gene 10907 TXNL4A ENSG00000141759 -611596 gene 10901 DHRS4 ENSG00000157326 -611597 phenotype -611598 phenotype 100188846 -611599 gene 406989 MIR206 ENSG00000207604 -611600 gene 9783 RIMS3 ENSG00000117016 -611601 gene 140730 RIMS4 ENSG00000101098 -611602 gene 23504 RIMBP2 ENSG00000060709 -611603 phenotype -611604 gene 10613 ERLIN1 ENSG00000107566 -611605 gene 11160 ERLIN2 ENSG00000147475 -611606 gene 407053 MIR96 ENSG00000199158 -611607 gene 406958 MIR182 ENSG00000207990 -611608 gene 406959 MIR183 ENSG00000207691 -611609 gene 57568 SIPA1L2 ENSG00000116991 -611610 gene 283209 PGM2L1 ENSG00000165434 -611611 gene 49855 SCAPER ENSG00000140386 -611612 gene 79178 THTPA ENSG00000259431 -611613 gene 79070 POGLUT2 ENSG00000134901 -611614 gene 57050 UTP3 ENSG00000132467 -611615 phenotype -611616 gene 65220 NADK ENSG00000008130 -611617 gene 80303 EFHD1 ENSG00000115468 -611618 moved/removed -611619 gene 100126314 MIR877 ENSG00000216101 -611620 gene 100187716 MIR1224 ENSG00000221120 -611621 gene 100188847 MIR1225 ENSG00000221656 -611622 gene 654502 IQCJ ENSG00000214216 -611623 gene 25977 NECAP1 ENSG00000089818 -611624 gene 55707 NECAP2 ENSG00000157191 -611625 gene 54994 GID8 ENSG00000101193 -611626 gene 54737 MPHOSPH8 ENSG00000196199 -611627 gene 79850 TLCD3A ENSG00000167695 -611628 gene 89796 NAV1 ENSG00000134369 -611629 gene 89795 NAV3 ENSG00000067798 -611630 phenotype 100188848 -611631 phenotype 100144434 -611632 gene 29914 UBIAD1 ENSG00000120942 -611633 gene 23168 RTF1 ENSG00000137815 -611634 phenotype 100188849 -611635 gene 58158 NEUROD4 ENSG00000123307 -611636 gene 10003 NAALAD2 ENSG00000077616 -611637 phenotype 100240702 -611638 phenotype -611639 gene 100125288 ZGLP1 ENSG00000220201 -611640 gene 92565 FANK1 ENSG00000203780 -611641 gene 641654 HEPN1 ENSG00000221932 -611642 gene 220296 HEPACAM ENSG00000165478 -611643 gene 387032 ZKSCAN4 ENSG00000187626 -611644 phenotype 100188850 -611645 gene 80319 CXXC4 ENSG00000168772 -611646 gene 80309 SPHKAP ENSG00000153820 -611647 gene 64801 ARV1 ENSG00000173409 -611648 gene 23262 PPIP5K2 ENSG00000145725 -611649 gene 80013 MINDY3 ENSG00000148481 -611650 predominantly phenotypes -611651 gene 50487 PLA2G3 ENSG00000100078 -611652 gene 81579 PLA2G12A ENSG00000123739 -611653 gene 84647 PLA2G12B ENSG00000138308 -611654 gene 79848 CSPP1 ENSG00000104218 -611655 gene 80055 PGAP1 ENSG00000197121 -611656 gene 80143 SIKE1 ENSG00000052723 -611657 gene 80176 SPSB1 ENSG00000171621 -611658 gene 84727 SPSB2 ENSG00000111671 -611659 gene 90864 SPSB3 ENSG00000162032 -611660 gene 92369 SPSB4 ENSG00000175093 -611661 gene 80174 DBF4B ENSG00000161692 -611662 gene 100126791 EGOT ENSG00000235947 -611663 gene 128637 TBC1D20 ENSG00000125875 -611664 phenotype -611665 gene 79039 DDX54 ENSG00000123064 -611666 gene 403313 PLPP6 ENSG00000205808 -611667 gene 65244 SPATS2 ENSG00000123352 -611668 gene 79585 CORO7 ENSG00000262246 -611669 gene 55621 TRMT1 ENSG00000104907 -611670 gene 51477 ISYNA1 ENSG00000105655 -611671 gene 80235 PIGZ ENSG00000119227 -611672 gene 113235 SLC46A1 ENSG00000076351 -611673 gene 81627 TRMT1L ENSG00000121486 -611674 gene 150165 XKR3 ENSG00000172967 -611675 gene 9764 KIAA0513 ENSG00000135709 -611676 gene 132954 PDCL2 ENSG00000163440 -611677 gene 441933 OR13G1 ENSG00000197437 -611678 gene 79031 PDCL3 ENSG00000115539 -611679 gene 10517 FBXW10 ENSG00000171931 -611680 gene 79098 C1orf116 ENSG00000182795 -611681 gene 80070 ADAMTS20 ENSG00000173157 -611682 gene 80350 LPAL2 ENSG00000213071 -611683 gene 79672 FN3KRP ENSG00000141560 -611684 gene 9733 SART3 ENSG00000075856 -611685 gene 9025 RNF8 ENSG00000112130 -611686 gene 64921 CASD1 ENSG00000127995 -611687 gene 154288 KHDC3L ENSG00000203908 -611688 gene 80759 KHDC1 ENSG00000135314 -611689 gene 441161 OOEP ENSG00000203907 -611690 gene 79056 PRRG4 ENSG00000135378 -611691 gene 79987 SVEP1 ENSG00000165124 -611692 gene 403341 ZBTB34 ENSG00000177125 -611693 gene 79827 CLMP ENSG00000166250 -611694 phenotype -611695 gene 146057 TTBK2 ENSG00000128881 -611696 gene 440044 SLC22A20P ENSG00000197847 -611697 gene 63027 SLC22A23 ENSG00000137266 -611698 gene 283238 SLC22A24 ENSG00000197658 -611699 gene 55530 SVOP ENSG00000166111 -611700 gene 136306 SVOPL ENSG00000157703 -611701 gene 201305 SPNS3 ENSG00000182557 -611702 predominantly phenotypes -611703 gene 80818 ZNF436 ENSG00000125945 -611704 gene 339967 TMPRSS11A ENSG00000187054 -611705 phenotype -611706 phenotype 100188851 -611707 gene 196264 MPZL3 ENSG00000160588 -611708 gene 574038 MIR431 ENSG00000208001 -611709 gene 406914 MIR127 ENSG00000207608 -611710 gene 406927 MIR136 ENSG00000207942 -611711 gene 574034 MIR433 ENSG00000207569 -611712 gene 147746 HIPK4 ENSG00000160396 -611713 gene 343521 DYNLT4 ENSG00000188396 -611714 gene 26130 GAPVD1 ENSG00000165219 -611715 gene 79644 SRD5A3 ENSG00000128039 -611716 gene 23545 ATP6V0A2 ENSG00000185344 -611717 phenotype -611718 phenotype -611719 phenotype -611720 gene 64207 IRF2BPL ENSG00000119669 -611721 phenotype -611722 phenotype -611723 gene 400866 LINC00114 ENSG00000223806 -611724 phenotype -611725 gene 154881 KCTD7 ENSG00000243335 -611726 phenotype -611727 gene 148753 FAM163A ENSG00000143340 -611728 gene 79899 PRR5L ENSG00000135362 -611729 gene 64837 KLC2 ENSG00000174996 -611730 gene 57669 EPB41L5 ENSG00000115109 -611731 gene 324 APC ENSG00000134982 -611732 gene 154141 MBOAT1 ENSG00000172197 -611733 predominantly phenotypes -611734 gene 79084 WDR77 ENSG00000116455 -611735 gene 64866 CDCP1 ENSG00000163814 -611736 gene 9687 GREB1 ENSG00000196208 -611737 gene 151011 SEPTIN10 ENSG00000186522 -611738 phenotype 100188853 -611739 phenotype 100188854 -611740 gene 83875 BCO2 ENSG00000197580 -611741 gene 9311 ASIC3 ENSG00000213199 -611742 phenotype -611743 gene 55200 PLEKHG6 ENSG00000008323 -611744 gene 54726 OTUD4 ENSG00000164164 -611745 gene 80124 VCPIP1 ENSG00000175073 -611746 gene 80274 SCUBE1 ENSG00000159307 -611747 gene 57758 SCUBE2 ENSG00000175356 -611748 gene 56957 OTUD7B ENSG00000264522 -611749 gene 54764 ZRANB1 ENSG00000019995 -611750 gene 81493 SYNC ENSG00000162520 -611751 gene 80745 THUMPD2 ENSG00000138050 -611752 gene 84417 ECRG4 ENSG00000119147 -611753 gene 81671 VMP1 ENSG00000062716 -611754 gene 51166 AADAT ENSG00000109576 -611755 phenotype -611756 gene 83853 ROPN1L ENSG00000145491 -611757 gene 54763 ROPN1 ENSG00000065371 -611758 gene 23252 OTUD3 ENSG00000169914 -611759 gene 83930 STARD3NL ENSG00000010270 -611760 gene 27253 PCDH17 ENSG00000118946 -611761 gene 64788 LMF1 ENSG00000103227 -611762 phenotype -611763 gene 81606 LBH ENSG00000213626 -611764 gene 84518 CNFN ENSG00000105427 -611765 gene 151516 ASPRV1 ENSG00000179818 -611766 gene 123263 MTFMT ENSG00000103707 -611767 gene 406913 MIR126 ENSG00000199161 -611768 gene 442904 MIR335 ENSG00000199043 -611769 gene 406916 MIR128-2 ENSG00000207625 -611770 gene 137814 NKX2-6 ENSG00000180053 -611771 phenotype -611772 gene 83540 NUF2 ENSG00000143228 -611773 phenotype -611774 gene 406915 MIR128-1 ENSG00000207654 -611775 phenotype -611776 gene 29078 NDUFAF4 ENSG00000123545 -611777 phenotype -611778 gene 23171 GPD1L ENSG00000152642 -611779 gene 84075 FSCB ENSG00000189139 -611780 gene 57661 PHRF1 ENSG00000070047 -611781 gene 63978 PRDM14 ENSG00000147596 -611782 gene 57453 DSCAML1 ENSG00000177103 -611783 phenotype -611784 gene 112495 GTF3C6 ENSG00000155115 -611785 gene 340273 ABCB5 ENSG00000004846 -611786 gene 51072 MEMO1 ENSG00000162959 -611787 gene 129607 CMPK2 ENSG00000134326 -611788 phenotype -611789 gene 133308 SLC9B2 ENSG00000164038 -611790 gene 25924 MYRIP ENSG00000170011 -611791 gene 374308 PTCHD3 ENSG00000182077 -611792 gene 29063 ZCCHC4 ENSG00000168228 -611793 gene 124801 LSM12 ENSG00000161654 -611794 gene 442914 MIR369 ENSG00000199025 -611795 gene 406937 MIR145 ENSG00000276365 -611796 gene 29106 SCG3 ENSG00000104112 -611797 gene 55245 UQCC1 ENSG00000101019 -611798 gene 23167 EFR3A ENSG00000132294 -611799 gene 254251 LCORL ENSG00000178177 -611800 gene 63892 THADA ENSG00000115970 -611801 gene 93210 PGAP3 ENSG00000161395 -611802 gene 84299 MIEN1 ENSG00000141741 -611803 gene 81533 ITFG1 ENSG00000129636 -611804 phenotype -611805 gene 60481 ELOVL5 ENSG00000012660 -611806 gene 57412 AS3MT ENSG00000214435 -611807 gene 261726 TIPRL ENSG00000143155 -611808 predominantly phenotypes -611809 phenotype -611810 gene 83878 USHBP1 ENSG00000130307 -611811 gene 84449 ZNF333 ENSG00000160961 -611812 phenotype -611813 gene 64834 ELOVL1 ENSG00000066322 -611814 gene 54898 ELOVL2 ENSG00000197977 -611815 gene 83401 ELOVL3 ENSG00000119915 -611816 phenotype -611817 gene 22914 KLRK1 ENSG00000213809 -611818 phenotype -611819 phenotype -611820 phenotype -611821 gene 65008 MRPL1 ENSG00000169288 -611822 gene 51069 MRPL2 ENSG00000112651 -611823 gene 51073 MRPL4 ENSG00000105364 -611824 gene 65005 MRPL9 ENSG00000143436 -611825 gene 124995 MRPL10 ENSG00000159111 -611826 gene 65003 MRPL11 ENSG00000174547 -611827 gene 64928 MRPL14 ENSG00000180992 -611828 gene 29088 MRPL15 ENSG00000137547 -611829 gene 54948 MRPL16 ENSG00000166902 -611830 gene 63875 MRPL17 ENSG00000158042 -611831 gene 29074 MRPL18 ENSG00000112110 -611832 gene 9801 MRPL19 ENSG00000115364 -611833 gene 55052 MRPL20 ENSG00000242485 -611834 gene 219927 MRPL21 ENSG00000197345 -611835 gene 29093 MRPL22 ENSG00000082515 -611836 gene 79590 MRPL24 ENSG00000143314 -611837 gene 51264 MRPL27 ENSG00000108826 -611838 gene 51263 MRPL30 ENSG00000185414 -611839 gene 64983 MRPL32 ENSG00000106591 -611840 gene 64981 MRPL34 ENSG00000130312 -611841 gene 51318 MRPL35 ENSG00000132313 -611842 gene 64979 MRPL36 ENSG00000171421 -611843 gene 51253 MRPL37 ENSG00000116221 -611844 gene 64978 MRPL38 ENSG00000204316 -611845 gene 54148 MRPL39 ENSG00000154719 -611846 gene 64975 MRPL41 ENSG00000182154 -611847 gene 28977 MRPL42 ENSG00000198015 -611848 gene 84545 MRPL43 ENSG00000055950 -611849 gene 65080 MRPL44 ENSG00000135900 -611850 gene 84311 MRPL45 ENSG00000278845 -611851 gene 26589 MRPL46 ENSG00000259494 -611852 gene 57129 MRPL47 ENSG00000136522 -611853 gene 51642 MRPL48 ENSG00000175581 -611854 gene 54534 MRPL50 ENSG00000136897 -611855 gene 51258 MRPL51 ENSG00000111639 -611856 gene 122704 MRPL52 ENSG00000172590 -611857 gene 116540 MRPL53 ENSG00000204822 -611858 gene 116541 MRPL54 ENSG00000183617 -611859 gene 128308 MRPL55 ENSG00000162910 -611860 moved/removed -611861 gene 83440 ADPGK ENSG00000159322 -611862 phenotype -611863 phenotype 100188855 -611864 gene 83787 ARMC10 ENSG00000170632 -611865 gene 83746 L3MBTL2 ENSG00000100395 -611866 gene 83758 RBP5 ENSG00000139194 -611867 phenotype -611868 phenotype -611869 gene 79874 RABEP2 ENSG00000177548 -611870 gene 54875 CNTLN ENSG00000044459 -611871 gene 51115 RMDN1 ENSG00000176623 -611872 gene 151393 RMDN2 ENSG00000115841 -611873 gene 55177 RMDN3 ENSG00000137824 -611874 gene 29937 NENF ENSG00000117691 -611875 phenotype -611876 phenotype -611877 gene 55971 BAIAP2L1 ENSG00000006453 -611878 phenotype -611879 phenotype -611880 phenotype -611881 phenotype -611882 gene 55629 PNRC2 ENSG00000189266 -611883 gene 56647 BCCIP ENSG00000107949 -611884 phenotype -611885 gene 81858 SHARPIN ENSG00000179526 -611886 predominantly phenotypes -611887 gene 105375355 UPK3B ENSG00000243566 -611888 gene 2077 ERF ENSG00000105722 -611889 gene 64766 S100PBP ENSG00000116497 -611890 phenotype -611891 phenotype 100188857 -611892 phenotype 100188858 -611893 gene 64857 PLEKHG2 ENSG00000090924 -611894 gene 406932 MIR140 ENSG00000208017 -611895 phenotype -611896 gene 388015 RTL1 ENSG00000254656 -611897 phenotype 100187717 -611898 gene 64772 ENGASE ENSG00000167280 -611899 gene 406986 MIR203A ENSG00000207568 -611900 gene 65258 MPPE1 ENSG00000154889 -611901 gene 64856 VWA1 ENSG00000179403 -611902 gene 64753 CCDC136 ENSG00000128596 -611903 gene 65251 ZNF649 ENSG00000198093 -611904 gene 349633 PLET1 ENSG00000188771 -611905 gene 64838 FNDC4 ENSG00000115226 -611906 gene 252995 FNDC5 ENSG00000160097 -611907 phenotype 100188859 -611908 gene 91869 RFT1 ENSG00000163933 -611909 gene 64778 FNDC3B ENSG00000075420 -611910 gene 387700 SLC16A12 ENSG00000152779 -611911 gene 23479 ISCU ENSG00000136003 -611912 gene 64710 NUCKS1 ENSG00000069275 -611913 phenotype -611914 gene 81628 TSC22D4 ENSG00000166925 -611915 gene 81552 VOPP1 ENSG00000154978 -611916 gene 256076 COL6A5 ENSG00000172752 -611917 gene 79831 KDM8 ENSG00000155666 -611918 moved/removed -611919 gene 79697 RIOX1 ENSG00000170468 -611920 phenotype 100188860 -611921 gene 375519 GJB7 ENSG00000164411 -611922 gene 219770 GJD4 ENSG00000177291 -611923 gene 81025 GJA9 ENSG00000131233 -611924 gene 84694 GJA10 ENSG00000135355 -611925 gene 349149 GJC3 ENSG00000176402 -611926 phenotype -611927 gene 286077 FAM83H ENSG00000180921 -611928 phenotype -611929 phenotype -611930 gene 81875 ISG20L2 ENSG00000143319 -611931 gene 151742 PPM1L ENSG00000163590 -611932 gene 55847 CISD1 ENSG00000122873 -611933 gene 284106 CISD3 ENSG00000277972 -611934 phenotype 100188861 -611935 gene 27249 MMADHC ENSG00000168288 -611936 phenotype -611937 gene 28501 IGHD3-3 ENSG00000211930 -611938 phenotype -611939 gene 28442 IGHV3-23 ENSG00000211949 -611940 gene 619373 MBOAT4 ENSG00000177669 -611941 gene 29028 ATAD2 ENSG00000156802 -611942 phenotype -611943 phenotype -611944 phenotype 100188865 -611945 phenotype 100049159 -611946 gene 80700 UBXN6 ENSG00000167671 -611947 gene 79671 NLRX1 ENSG00000160703 -611948 moved/removed -611949 gene 129642 MBOAT2 ENSG00000143797 -611950 gene 10162 LPCAT3 ENSG00000111684 -611951 gene 80776 B9D2 ENSG00000123810 -611952 gene 51160 VPS28 ENSG00000160948 -611953 phenotype -611954 gene 442918 MIR373 ENSG00000199143 -611955 phenotype -611956 gene 79669 C3orf52 ENSG00000114529 -611957 gene 494327 MIR378A ENSG00000199047 -611958 phenotype 100188867 -611959 phenotype 100188868 -611960 phenotype -611961 predominantly phenotypes -611962 phenotype -611963 gene 344967 ENSG00000205794 -611964 gene 80777 CYB5B ENSG00000103018 -611965 gene 80145 THOC7 ENSG00000163634 -611966 gene 83696 TRAPPC9 ENSG00000167632 -611967 gene 57563 KLHL8 ENSG00000145332 -611968 gene 23283 CSTF2T ENSG00000177613 -611969 gene 81532 MOB2 ENSG00000182208 -611970 gene 84365 NIFK ENSG00000155438 -611971 gene 51116 MRPS2 ENSG00000122140 -611972 gene 64969 MRPS5 ENSG00000144029 -611973 gene 64968 MRPS6 ENSG00000243927 -611974 gene 51081 MRPS7 ENSG00000125445 -611975 gene 64965 MRPS9 ENSG00000135972 -611976 gene 55173 MRPS10 ENSG00000048544 -611977 gene 64963 MRPS11 ENSG00000181991 -611978 gene 63931 MRPS14 ENSG00000120333 -611979 gene 64960 MRPS15 ENSG00000116898 -611980 gene 51373 MRPS17 ENSG00000239789 -611981 gene 55168 MRPS18A ENSG00000096080 -611982 gene 28973 MRPS18B ENSG00000204568 -611983 gene 51023 MRPS18C ENSG00000163319 -611984 gene 54460 MRPS21 ENSG00000266472 -611985 gene 51649 MRPS23 ENSG00000181610 -611986 gene 64951 MRPS24 ENSG00000062582 -611987 gene 64432 MRPS25 ENSG00000131368 -611988 gene 64949 MRPS26 ENSG00000125901 -611989 gene 23107 MRPS27 ENSG00000113048 -611990 gene 28957 MRPS28 ENSG00000147586 -611991 gene 10884 MRPS30 ENSG00000112996 -611992 gene 10240 MRPS31 ENSG00000102738 -611993 gene 51650 MRPS33 ENSG00000090263 -611994 gene 65993 MRPS34 ENSG00000074071 -611995 gene 60488 MRPS35 ENSG00000061794 -611996 gene 92259 MRPS36 ENSG00000134056 -611997 gene 78988 MRPL57 ENSG00000173141 -611998 gene 84699 CREB3L3 ENSG00000060566 -611999 gene 84440 RAB11FIP4 ENSG00000131242 -612000 gene 9866 TRIM66 ENSG00000166436 -612001 phenotype -612002 gene 55635 DEPDC1 ENSG00000024526 -612003 gene 26058 GIGYF2 ENSG00000204120 -612004 phenotype -612005 phenotype 100301522 -612006 phenotype 100188870 -612007 phenotype 100188871 -612008 phenotype 100188872 -612009 phenotype 100188873 -612010 phenotype 100188874 -612011 phenotype 100188875 -612012 gene 23503 ZFYVE26 ENSG00000072121 -612013 gene 57545 CC2D2A ENSG00000048342 -612014 gene 79809 TTC21B ENSG00000123607 -612015 phenotype -612016 phenotype -612017 phenotype 100188876 -612018 phenotype -612019 gene 91464 ISX ENSG00000175329 -612020 phenotype -612021 gene 51633 OTUD6B ENSG00000155100 -612022 gene 220213 OTUD1 ENSG00000165312 -612023 gene 55432 YOD1 ENSG00000180667 -612024 gene 161725 OTUD7A ENSG00000169918 -612025 gene 389434 IYD ENSG00000009765 -612026 gene 51574 LARP7 ENSG00000174720 -612027 gene 160622 TAMALIN ENSG00000161835 -612028 gene 161247 FITM1 ENSG00000139914 -612029 gene 128486 FITM2 ENSG00000197296 -612030 phenotype 100188877 -612031 gene 83729 INHBE ENSG00000139269 -612032 gene 84661 DPY30 ENSG00000162961 -612033 gene 79447 PAGR1 ENSG00000280789 -612034 gene 10297 APC2 ENSG00000115266 -612035 gene 57505 AARS2 ENSG00000124608 -612036 gene 25973 PARS2 ENSG00000162396 -612037 gene 79594 MUL1 ENSG00000090432 -612038 gene 222068 TMED4 ENSG00000158604 -612039 gene 254531 LPCAT4 ENSG00000176454 -612040 gene 54947 LPCAT2 ENSG00000087253 -612041 gene 285498 RNF212 ENSG00000178222 -612042 phenotype -612043 gene 442916 MIR371A ENSG00000199031 -612044 gene 442917 MIR372 ENSG00000199095 -612045 gene 114899 C1QTNF3 ENSG00000082196 -612046 gene 144455 E2F7 ENSG00000165891 -612047 gene 79733 E2F8 ENSG00000129173 -612048 gene 79188 TMEM43 ENSG00000170876 -612049 gene 84864 RIOX2 ENSG00000170854 -612050 gene 80762 NDFIP1 ENSG00000131507 -612051 gene 146227 BEAN1 ENSG00000166546 -612052 phenotype -612053 gene 678 ZFP36L2 ENSG00000152518 -612054 gene 9125 CNOT9 ENSG00000144580 -612055 gene 51065 RPS27L ENSG00000185088 -612056 gene 51608 GET4 ENSG00000239857 -612057 gene 89958 SAPCD2 ENSG00000186193 -612058 gene 25813 SAMM50 ENSG00000100347 -612059 gene 23367 LARP1 ENSG00000155506 -612060 gene 84937 ZNRF1 ENSG00000186187 -612061 gene 223082 ZNRF2 ENSG00000180233 -612062 gene 84133 ZNRF3 ENSG00000183579 -612063 gene 148066 ZNRF4 ENSG00000105428 -612064 gene 64599 GIGYF1 ENSG00000146830 -612065 gene 83666 PARP9 ENSG00000138496 -612066 gene 165631 PARP15 ENSG00000173200 -612067 phenotype -612068 gene 644139 PIRT ENSG00000233670 -612069 phenotype -612070 gene 406936 MIR144 ENSG00000283819 -612071 gene 574411 MIR451A ENSG00000284565 -612072 gene 57409 MIF4GD ENSG00000125457 -612073 phenotype -612074 gene 55131 RBM28 ENSG00000106344 -612075 phenotype -612076 phenotype -612077 gene 407004 MIR22 ENSG00000283824 -612078 gene 84627 ZNF469 ENSG00000225614 -612079 phenotype -612080 gene 27089 UQCRQ ENSG00000164405 -612081 gene 146433 IL34 ENSG00000157368 -612082 gene 23152 CIC ENSG00000079432 -612083 phenotype 100192311 -612084 gene 200931 SLC51A ENSG00000163959 -612085 gene 123264 SLC51B ENSG00000186198 -612086 gene 284293 HMSD ENSG00000221887 -612087 gene 387836 CLEC2A ENSG00000188393 -612088 gene 160364 CLEC12A ENSG00000172322 -612089 phenotype 100188880 -612090 gene 406983 MIR200A ENSG00000207607 -612091 gene 406984 MIR200B ENSG00000207730 -612092 gene 406985 MIR200C ENSG00000207713 -612093 gene 406933 MIR141 ENSG00000207708 -612094 gene 554210 MIR429 ENSG00000198976 -612095 phenotype -612096 phenotype 100151644 -612097 phenotype -612098 phenotype -612099 phenotype 100188881 -612100 phenotype -612101 gene 55300 PI4K2B ENSG00000038210 -612102 gene 406890 MIRLET7G ENSG00000199150 -612103 gene 64859 NABP1 ENSG00000173559 -612104 gene 79035 NABP2 ENSG00000139579 -612105 gene 100144748 KLLN ENSG00000227268 -612106 gene 9923 ZBTB40 ENSG00000184677 -612107 gene 63910 SLC17A9 ENSG00000101194 -612108 phenotype 100499165 -612109 phenotype -612110 phenotype 100188882 -612111 gene 25816 TNFAIP8 ENSG00000145779 -612112 gene 79626 TNFAIP8L2 ENSG00000163154 -612113 phenotype 100188883 -612114 phenotype 100188884 -612115 gene 50650 ARHGEF3 ENSG00000163947 -612116 gene 23326 USP22 ENSG00000124422 -612117 gene 406935 MIR143 ENSG00000284182 -612118 gene 440073 IQSEC3 ENSG00000120645 -612119 phenotype -612120 gene 63924 CIDEC ENSG00000187288 -612121 gene 285848 PNPLA1 ENSG00000180316 -612122 gene 375775 PNPLA7 ENSG00000130653 -612123 gene 50640 PNPLA8 ENSG00000135241 -612124 phenotype -612125 gene 29946 SERTAD3 ENSG00000167565 -612126 phenotype -612127 gene 345275 HSD17B13 ENSG00000170509 -612128 gene 91608 RASL10B ENSG00000270885 -612129 gene 169355 IDO2 ENSG00000188676 -612130 gene 100126794 -612131 gene 10170 DHRS9 ENSG00000073737 -612132 phenotype -612133 gene 58160 NFE4 ENSG00000230257 -612134 gene 26035 GLCE ENSG00000138604 -612135 gene 26256 CABYR ENSG00000154040 -612136 gene 55862 ECHDC1 ENSG00000093144 -612137 gene 81847 RNF146 ENSG00000118518 -612138 phenotype -612139 gene 80243 PREX2 ENSG00000046889 -612140 gene 346288 SEPTIN14 ENSG00000154997 -612141 gene 64097 EPB41L4A ENSG00000129595 -612142 gene 406882 MIRLET7A2 ENSG00000198975 -612143 gene 406883 MIRLET7A3 ENSG00000283990 -612144 gene 406885 MIRLET7C ENSG00000199030 -612145 gene 406886 MIRLET7D ENSG00000199133 -612146 gene 406888 MIRLET7F1 ENSG00000199072 -612147 gene 91807 MYLK3 ENSG00000140795 -612148 gene 406891 MIRLET7I ENSG00000199179 -612149 gene 23543 RBFOX2 ENSG00000100320 -612150 gene 407014 MIR25 ENSG00000207547 -612151 gene 407015 MIR26A1 ENSG00000199075 -612152 gene 407017 MIR26B ENSG00000199121 -612153 gene 407018 MIR27A ENSG00000207808 -612154 gene 407020 MIR28 ENSG00000207651 -612155 gene 407035 MIR31 ENSG00000199177 -612156 gene 407039 MIR33A ENSG00000207932 -612157 gene 29843 SENP1 ENSG00000079387 -612158 phenotype -612159 gene 22895 RPH3A ENSG00000089169 -612160 phenotype -612161 phenotype 100188885 -612162 phenotype 100188886 -612163 gene 219931 TPCN2 ENSG00000162341 -612164 phenotype -612165 phenotype 54110 -612166 gene 29986 SLC39A2 ENSG00000165794 -612167 gene 57599 WDR48 ENSG00000114742 -612168 gene 29985 SLC39A3 ENSG00000141873 -612169 gene 9103 FCGR2C -612170 gene 283463 MUC19 ENSG00000205592 -612171 gene 56475 RPRM ENSG00000177519 -612172 gene 9416 DDX23 ENSG00000174243 -612173 gene 79582 SPAG16 ENSG00000144451 -612174 gene 51719 CAB39 ENSG00000135932 -612175 gene 81617 CAB39L ENSG00000102547 -612176 gene 114803 MYSM1 ENSG00000162601 -612177 gene 6029 RN7SL1 ENSG00000276168 -612178 gene 113802 HENMT1 ENSG00000162639 -612179 gene 378706 RN7SL2 ENSG00000274012 -612180 gene 378707 RN7SL3 ENSG00000278771 -612181 gene 56667 MUC13 ENSG00000173702 -612182 gene 10 NAT2 ENSG00000156006 -612183 gene 11245 GPR176 ENSG00000166073 -612184 gene 57524 CASKIN1 ENSG00000167971 -612185 gene 57513 CASKIN2 ENSG00000177303 -612186 gene 23312 DMXL2 ENSG00000104093 -612187 gene 55652 SLC48A1 ENSG00000211584 -612188 gene 23339 VPS39 ENSG00000166887 -612189 gene 64081 PBLD ENSG00000108187 -612190 gene 64223 MLST8 ENSG00000167965 -612191 gene 692094 MSMP ENSG00000215183 -612192 gene 346171 ZFP57 ENSG00000204644 -612193 gene 202333 CMYA5 ENSG00000164309 -612194 gene 10670 RRAGA ENSG00000155876 -612195 gene 84696 ABHD1 ENSG00000143994 -612196 gene 11057 ABHD2 ENSG00000140526 -612197 gene 171586 ABHD3 ENSG00000158201 -612198 phenotype -612199 phenotype -612200 gene 205428 DIPK2A ENSG00000181744 -612201 phenotype -612202 gene 83595 SOX7 ENSG00000171056 -612203 gene 266812 NAP1L5 ENSG00000177432 -612204 gene 79065 ATG9A ENSG00000198925 -612205 gene 285973 ATG9B ENSG00000181652 -612206 gene 24147 FJX1 ENSG00000179431 -612207 gene 64083 GOLPH3 ENSG00000113384 -612208 gene 55204 GOLPH3L ENSG00000143457 -612209 gene 343930 MSGN1 ENSG00000151379 -612210 gene 728655 HULC -612211 gene 286753 TRARG1 ENSG00000184811 -612212 gene 285189 PLGLA ENSG00000240935 -612213 gene 100131137 BSPH1 ENSG00000188334 -612214 gene 266747 RGL4 ENSG00000159496 -612215 gene 641638 SNHG6 -612216 gene 641648 SNORD87 ENSG00000254341 -612217 gene 64771 ILRUN ENSG00000196821 -612218 gene 253461 ZBTB38 ENSG00000177311 -612219 phenotype -612220 gene 283358 B4GALNT3 ENSG00000139044 -612221 phenotype 100270794 -612222 gene 2588 GALNS ENSG00000141012 -612223 phenotype 100270795 -612224 phenotype 100301523 -612225 phenotype -612226 phenotype 100270796 -612227 phenotype -612228 phenotype 100270797 -612229 phenotype -612230 phenotype 100188887 -612231 phenotype 100187710 -612232 phenotype 100187711 -612233 phenotype -612234 gene 255022 CALHM1 ENSG00000185933 -612235 gene 51063 CALHM2 ENSG00000138172 -612236 gene 51290 ERGIC2 ENSG00000087502 -612237 phenotype -612238 phenotype 100190785 -612239 phenotype 100190985 -612240 phenotype -612241 phenotype 100188952 -612242 phenotype -612243 gene 57211 ADGRG6 ENSG00000112414 -612244 phenotype -612245 phenotype -612246 gene 9936 CD302 ENSG00000241399 -612247 phenotype -612248 gene 199692 ZNF627 ENSG00000198551 -612249 gene 221981 THSD7A ENSG00000005108 -612250 gene 23432 GPR161 ENSG00000143147 -612251 phenotype -612252 gene 283420 CLEC9A ENSG00000197992 -612253 phenotype -612254 phenotype 100190928 -612255 phenotype 100190929 -612256 gene 22983 MAST1 ENSG00000105613 -612257 gene 23139 MAST2 ENSG00000086015 -612258 gene 23031 MAST3 ENSG00000099308 -612259 phenotype 100190930 -612260 phenotype -612261 phenotype -612262 phenotype 100190931 -612263 phenotype 100190932 -612264 gene 9902 MRC2 ENSG00000011028 -612265 gene 23196 FAM120A ENSG00000048828 -612266 gene 84498 FAM120B ENSG00000112584 -612267 phenotype -612268 gene 23093 TTLL5 ENSG00000119685 -612269 phenotype -612270 gene 55038 CDCA4 ENSG00000170779 -612271 phenotype -612272 moved/removed -612273 moved/removed -612274 phenotype 100190786 -612275 gene 79893 GGNBP2 ENSG00000278311 -612276 gene 79693 YRDC ENSG00000196449 -612277 gene 9719 ADAMTSL2 ENSG00000197859 -612278 phenotype -612279 phenotype 100190787 -612280 gene 2517 FUCA1 ENSG00000179163 -612281 phenotype -612282 gene 91752 ZNF804A ENSG00000170396 -612283 gene 5624 PROC ENSG00000115718 -612284 phenotype -612285 phenotype -612286 phenotype -612287 phenotype -612288 phenotype 100190788 -612289 phenotype -612290 phenotype -612291 phenotype -612292 phenotype -612293 phenotype 100190982 -612294 gene 91614 DEPDC7 ENSG00000121690 -612295 gene 120534 ARL14EP ENSG00000152219 -612296 gene 283267 LINC00294 ENSG00000280798 -612297 gene 25758 KIAA1549L ENSG00000110427 -612298 gene 54765 TRIM44 ENSG00000166326 -612299 gene 29099 COMMD9 ENSG00000110442 -612300 phenotype -612301 phenotype -612302 gene 84435 ADGRA1 ENSG00000197177 -612303 gene 166647 ADGRA3 ENSG00000152990 -612304 phenotype -612305 gene 326342 ADGRE4P ENSG00000268758 -612306 phenotype 100190789 -612307 gene 84873 ADGRG7 ENSG00000144820 -612308 gene 57659 ZBTB4 ENSG00000174282 -612309 gene 2153 F5 ENSG00000198734 -612310 phenotype -612311 phenotype 100190790 -612312 phenotype 100190791 -612313 phenotype -612314 gene 119391 GSTO2 ENSG00000065621 -612315 gene 286887 KRT6C ENSG00000170465 -612316 gene 55210 ATAD3A ENSG00000197785 -612317 gene 83858 ATAD3B ENSG00000160072 -612318 phenotype -612319 phenotype -612320 gene 200008 CDCP2 ENSG00000157211 -612321 moved/removed -612322 gene 22868 FASTKD2 ENSG00000118246 -612323 gene 196294 IMMP1L ENSG00000148950 -612324 gene 91057 CCDC34 ENSG00000109881 -612325 gene 22858 CILK1 ENSG00000112144 -612326 gene 22980 TCF25 ENSG00000141002 -612327 gene 79694 MANEA ENSG00000172469 -612328 gene 493860 CCDC73 ENSG00000186714 -612329 gene 407029 MIR30A ENSG00000207827 -612330 gene 693195 MIR610 ENSG00000207874 -612331 gene 64130 LIN7B ENSG00000104863 -612332 gene 55327 LIN7C ENSG00000148943 -612333 gene 22984 PDCD11 ENSG00000148843 -612334 gene 222236 NAPEPLD ENSG00000161048 -612335 phenotype 100049707 -612336 phenotype -612337 phenotype -612338 gene 92086 GGTLC1 ENSG00000149435 -612339 gene 91227 GGTLC2 ENSG00000100121 -612340 gene 728226 GGTLC3 ENSG00000274252 -612341 gene 124975 GGT6 ENSG00000167741 -612342 gene 2686 GGT7 ENSG00000131067 -612343 phenotype 100192307 -612344 gene 151126 ZNF385B ENSG00000144331 -612345 phenotype -612346 gene 2678 GGT1 ENSG00000100031 -612347 phenotype -612348 phenotype -612349 gene 5053 PAH ENSG00000171759 -612350 phenotype -612351 gene 344167 FOXI3 ENSG00000214336 -612352 gene 57559 STAMBPL1 ENSG00000138134 -612353 phenotype 100196911 -612354 phenotype 100192312 -612355 moved/removed -612356 phenotype -612357 phenotype 100196912 -612358 gene 3827 KNG1 ENSG00000113889 -612359 moved/removed -612360 gene 79133 NDUFAF5 ENSG00000101247 -612361 phenotype 100196913 -612362 phenotype -612363 phenotype -612364 phenotype -612365 phenotype -612366 phenotype -612367 phenotype 100196914 -612368 phenotype 100196915 -612369 phenotype 100196916 -612370 phenotype -612371 phenotype -612372 phenotype 100196917 -612373 gene 55315 SLC29A3 ENSG00000198246 -612374 gene 340061 STING1 ENSG00000184584 -612375 gene 64853 AIDA ENSG00000186063 -612376 phenotype -612377 gene 170622 COMMD6 ENSG00000188243 -612378 phenotype 100196918 -612379 phenotype -612380 phenotype 100240732 -612381 phenotype 100240733 -612382 gene 84246 MED10 ENSG00000133398 -612383 gene 400569 MED11 ENSG00000161920 -612384 gene 54797 MED18 ENSG00000130772 -612385 gene 219541 MED19 ENSG00000156603 -612386 gene 2235 FECH ENSG00000066926 -612387 phenotype -612388 phenotype 100196919 -612389 phenotype -612390 phenotype -612391 moved/removed -612392 gene 137682 NDUFAF6 ENSG00000156170 -612393 gene 123720 WHAMM ENSG00000156232 -612394 phenotype -612395 gene 1120 CHKB ENSG00000100288 -612396 predominantly phenotypes 55821 ALLC ENSG00000151360 -612397 gene 344875 COL6A4P1 ENSG00000230524 -612398 gene 23011 RAB21 ENSG00000080371 -612399 gene 79816 TLE6 ENSG00000104953 -612400 phenotype -612401 phenotype 100286836 -612402 gene 259173 ALS2CL ENSG00000178038 -612403 gene 387496 RASL11A ENSG00000122035 -612404 gene 65997 RASL11B ENSG00000128045 -612405 gene 132946 ARL9 ENSG00000196503 -612406 phenotype 100216344 -612407 gene 431704 RGS21 ENSG00000253148 -612408 gene 55269 PSPC1 ENSG00000121390 -612409 gene 10432 RBM14 ENSG00000239306 -612410 phenotype 503613 -612411 gene 79633 FAT4 ENSG00000196159 -612412 gene 84221 SPATC1L ENSG00000160284 -612413 gene 10179 RBM7 ENSG00000076053 -612414 gene 220074 LRTOMT ENSG00000284922 -612415 gene 53917 RAB24 ENSG00000169228 -612416 phenotype -612417 phenotype 100216484 -612418 gene 54968 TMEM70 ENSG00000175606 -612419 gene 148113 CILP2 ENSG00000160161 -612420 gene 84632 AFAP1L2 ENSG00000169129 -612421 phenotype 100217387 -612422 phenotype -612423 phenotype -612424 gene 346007 EYS ENSG00000188107 -612425 gene 151246 SGO2 ENSG00000163535 -612426 gene 116028 RMI2 ENSG00000175643 -612427 gene 58517 RBM25 ENSG00000119707 -612428 gene 55544 RBM38 ENSG00000132819 -612429 gene 91975 ZNF300 ENSG00000145908 -612430 gene 55696 RBM22 ENSG00000086589 -612431 phenotype -612432 gene 644150 WIPF3 ENSG00000122574 -612433 phenotype 449483 -612434 gene 83716 CRISPLD2 ENSG00000103196 -612435 gene 28232 SLCO3A1 ENSG00000176463 -612436 gene 28231 SLCO4A1 ENSG00000101187 -612437 phenotype -612438 phenotype -612439 gene 26286 ARFGAP3 ENSG00000242247 -612440 moved/removed -612441 gene 146664 MGAT5B ENSG00000167889 -612442 gene 26984 SEC22A ENSG00000121542 -612443 moved/removed -612444 phenotype -612445 predominantly phenotypes -612446 phenotype -612447 predominantly phenotypes -612448 phenotype 100233147 -612449 gene 348654 GEN1 ENSG00000178295 -612450 gene 10767 HBS1L ENSG00000112339 -612451 gene 55905 RNF114 ENSG00000124226 -612452 gene 284058 KANSL1 ENSG00000120071 -612453 gene 84466 MEGF10 ENSG00000145794 -612454 gene 84465 MEGF11 ENSG00000157890 -612455 gene 159963 SLC5A12 ENSG00000148942 -612456 gene 81575 APOLD1 ENSG00000178878 -612457 gene 10620 ARID3B ENSG00000179361 -612458 gene 51412 ACTL6B ENSG00000077080 -612459 phenotype 100233157 -612460 phenotype -612461 gene 23237 ARC ENSG00000198576 -612462 phenotype -612463 phenotype -612464 gene 57561 ARRDC3 ENSG00000113369 -612465 gene 9882 TBC1D4 ENSG00000136111 -612466 gene 115361 GBP4 ENSG00000162654 -612467 gene 163351 GBP6 ENSG00000183347 -612468 gene 388646 GBP7 ENSG00000213512 -612469 phenotype -612470 gene 55509 BATF3 ENSG00000123685 -612471 gene 64902 AGXT2 ENSG00000113492 -612472 gene 56339 METTL3 ENSG00000165819 -612473 gene 157310 PEBP4 ENSG00000134020 -612474 phenotype -612475 phenotype -612476 gene 10538 BATF ENSG00000156127 -612477 gene 84223 IQCG ENSG00000114473 -612478 gene 63941 NECAB3 ENSG00000125967 -612479 moved/removed -612480 gene 25976 TIPARP ENSG00000163659 -612481 gene 64761 PARP12 ENSG00000059378 -612482 gene 54894 RNF43 ENSG00000108375 -612483 gene 120114 FAT3 ENSG00000165323 -612484 gene 84659 RNASE7 ENSG00000165799 -612485 gene 122665 RNASE8 ENSG00000173431 -612486 gene 54798 DCHS2 ENSG00000197410 -612487 gene 55072 RNF31 ENSG00000092098 -612488 gene 152006 RNF38 ENSG00000137075 -612489 gene 11237 RNF24 ENSG00000101236 -612490 gene 51255 RNF181 ENSG00000168894 -612491 gene 51074 APIP ENSG00000149089 -612492 gene 84749 USP30 ENSG00000135093 -612493 gene 285888 CNPY1 ENSG00000146910 -612494 gene 55160 ARHGEF10L ENSG00000074964 -612495 gene 90025 UBE3D ENSG00000118420 -612496 gene 128272 ARHGEF19 ENSG00000142632 -612497 gene 10412 NSA2 ENSG00000164346 -612498 gene 122622 ADSS1 ENSG00000185100 -612499 gene 27292 DIMT1 ENSG00000086189 -612500 gene 11056 DDX52 ENSG00000278053 -612501 gene 92912 UBE2Q2 ENSG00000140367 -612502 gene 78989 COLEC11 ENSG00000118004 -612503 gene 23461 ABCA5 ENSG00000154265 -612504 gene 23460 ABCA6 ENSG00000154262 -612505 gene 10351 ABCA8 ENSG00000141338 -612506 gene 54926 UBE2R2 ENSG00000107341 -612507 gene 10350 ABCA9 ENSG00000154258 -612508 gene 10349 ABCA10 ENSG00000154263 -612509 gene 89845 ABCC10 ENSG00000124574 -612510 gene 10061 ABCF2 ENSG00000033050 -612511 gene 406893 MIR101-1 ENSG00000199135 -612512 gene 406894 MIR101-2 ENSG00000199065 -612513 phenotype -612514 phenotype 100233227 -612515 gene 80067 DCAF17 ENSG00000115827 -612516 gene 55075 UACA ENSG00000137831 -612517 gene 55172 DNAAF2 ENSG00000165506 -612518 phenotype -612519 gene 340146 SLC35D3 ENSG00000182747 -612520 phenotype -612521 phenotype -612522 phenotype -612523 gene 64799 IQCH ENSG00000103599 -612524 gene 79897 RPP21 ENSG00000241370 -612525 phenotype 100270639 -612526 phenotype -612527 phenotype -612528 phenotype -612529 phenotype -612530 phenotype -612531 gene 83591 THAP2 ENSG00000173451 -612532 gene 90326 THAP3 ENSG00000041988 -612533 gene 51078 THAP4 ENSG00000176946 -612534 gene 168451 THAP5 ENSG00000177683 -612535 gene 152815 THAP6 ENSG00000174796 -612536 gene 199745 THAP8 ENSG00000161277 -612537 gene 79725 THAP9 ENSG00000168152 -612538 gene 56906 THAP10 ENSG00000129028 -612539 phenotype -612540 phenotype -612541 phenotype -612542 phenotype -612543 gene 57602 USP36 ENSG00000055483 -612544 gene 84448 ABLIM2 ENSG00000163995 -612545 gene 171022 ABHD11-AS1 -612546 gene 155368 METTL27 ENSG00000165171 -612547 gene 135886 TMEM270 ENSG00000175877 -612548 gene 135892 TRIM50 ENSG00000146755 -612549 gene 375593 TRIM73 ENSG00000178809 -612550 gene 378108 TRIM74 ENSG00000155428 -612551 phenotype -612552 gene 9889 ZBED4 ENSG00000100426 -612553 gene 442915 MIR370 ENSG00000199005 -612554 phenotype 100270641 -612555 phenotype -612556 phenotype -612557 phenotype 100270642 -612558 phenotype 100270643 -612559 phenotype 100270644 -612560 phenotype -612561 phenotype -612562 phenotype -612563 phenotype -612564 gene 10190 TXNDC9 ENSG00000115514 -612565 gene 81876 RAB1B ENSG00000174903 -612566 phenotype 100270798 -612567 phenotype -612568 gene 121599 SPIC ENSG00000166211 -612569 gene 55749 CCAR1 ENSG00000060339 -612570 gene 2201 FBN2 ENSG00000138829 -612571 phenotype 100271687 -612572 phenotype -612573 phenotype 100271867 -612574 phenotype 100271868 -612575 phenotype 100271869 -612576 phenotype -612577 phenotype -612578 phenotype 100270801 -612579 phenotype 100270802 -612580 phenotype -612581 phenotype 112441440 -612582 phenotype -612583 gene 83985 SPNS1 ENSG00000169682 -612584 gene 124976 SPNS2 ENSG00000183018 -612585 gene 81037 CLPTM1L ENSG00000049656 -612586 phenotype 100271688 -612587 phenotype 100271689 -612588 gene 9774 BCLAF1 ENSG00000029363 -612589 phenotype 100271690 -612590 phenotype 100329169 -612591 phenotype -612592 phenotype 100271692 -612593 phenotype 100271693 -612594 phenotype 100271694 -612595 phenotype 100271695 -612596 phenotype 100271696 -612597 gene 56253 CRTAM ENSG00000109943 -612598 gene 26994 RNF11 ENSG00000123091 -612599 phenotype 100271719 -612600 gene 55178 MRM3 ENSG00000171861 -612601 gene 342931 RFPL4A ENSG00000223638 -612602 gene 29890 RBM15B ENSG00000259956 -612603 gene 353131 LCE1A ENSG00000186844 -612604 gene 353132 LCE1B ENSG00000196734 -612605 gene 353133 LCE1C ENSG00000197084 -612606 gene 353134 LCE1D ENSG00000172155 -612607 gene 353135 LCE1E ENSG00000186226 -612608 gene 353137 LCE1F ENSG00000240386 -612609 gene 353139 LCE2A ENSG00000187173 -612610 gene 26239 LCE2B ENSG00000159455 -612611 gene 353140 LCE2C ENSG00000187180 -612612 gene 353141 LCE2D ENSG00000187223 -612613 gene 353142 LCE3A ENSG00000185962 -612614 gene 353143 LCE3B ENSG00000187238 -612615 gene 353144 LCE3C ENSG00000244057 -612616 gene 84648 LCE3D ENSG00000163202 -612617 gene 353145 LCE3E ENSG00000185966 -612618 gene 199834 LCE4A ENSG00000187170 -612619 gene 254910 LCE5A ENSG00000186207 -612620 gene 166824 RASSF6 ENSG00000169435 -612621 phenotype -612622 phenotype 100271697 -612623 phenotype -612624 phenotype -612625 gene 55788 LMBRD1 ENSG00000168216 -612626 phenotype -612627 phenotype 100271922 -612628 phenotype -612629 phenotype 100271698 -612630 phenotype -612631 phenotype -612632 phenotype 100271837 -612633 phenotype -612634 phenotype -612635 phenotype -612636 gene 285175 UNC80 ENSG00000144406 -612637 phenotype 100271923 -612638 gene 126328 NDUFA11 ENSG00000174886 -612639 phenotype 100271838 -612640 gene 219793 TBATA ENSG00000166220 -612641 gene 286 ANK1 ENSG00000029534 -612642 phenotype 100271924 -612643 phenotype -612644 phenotype -612645 phenotype -612646 gene 346389 MACC1 ENSG00000183742 -612647 gene 345895 RSPH4A ENSG00000111834 -612648 gene 221421 RSPH9 ENSG00000172426 -612649 phenotype -612650 phenotype -612651 phenotype -612652 moved/removed -612653 phenotype -612654 gene 84260 TCHP ENSG00000139437 -612655 gene 51256 TBC1D7 ENSG00000145979 -612656 phenotype -612657 phenotype -612658 gene 93643 TJAP1 ENSG00000137221 -612659 gene 222546 RFX6 ENSG00000185002 -612660 gene 64864 RFX7 ENSG00000181827 -612661 gene 55135 WRAP53 ENSG00000141499 -612662 gene 64786 TBC1D15 ENSG00000121749 -612663 gene 497189 TIFAB ENSG00000255833 -612664 gene 85004 RERG ENSG00000134533 -612665 gene 83639 TEX101 ENSG00000131126 -612666 gene 25778 DSTYK ENSG00000133059 -612667 gene 55355 HJURP ENSG00000123485 -612668 gene 259289 TAS2R43 ENSG00000255374 -612669 gene 259290 TAS2R31 ENSG00000256436 -612670 moved/removed -612671 phenotype -612672 gene 10890 RAB10 ENSG00000084733 -612673 gene 51552 RAB14 ENSG00000119396 -612674 phenotype -612675 gene 677778 SCARNA15 ENSG00000277864 -612676 gene 5860 QDPR ENSG00000151552 -612677 gene 149628 PYHIN1 ENSG00000163564 -612678 gene 11189 CELF3 ENSG00000159409 -612679 gene 56853 CELF4 ENSG00000101489 -612680 gene 60680 CELF5 ENSG00000161082 -612681 gene 60677 CELF6 ENSG00000140488 -612682 gene 374946 DRAXIN ENSG00000162490 -612683 gene 64518 TEKT3 ENSG00000125409 -612684 gene 145501 ISM2 ENSG00000100593 -612685 gene 57662 CAMSAP3 ENSG00000076826 -612686 gene 144100 PLEKHA7 ENSG00000166689 -612687 gene 285704 RGMB ENSG00000174136 -612688 gene 165918 RNF168 ENSG00000163961 -612689 gene 27134 TJP3 ENSG00000105289 -612690 phenotype -612691 phenotype -612692 phenotype -612693 gene 81605 URM1 ENSG00000167118 -612694 gene 90353 CTU1 ENSG00000142544 -612695 gene 56664 VTRNA1-1 ENSG00000199990 -612696 gene 56663 VTRNA1-2 ENSG00000202111 -612697 gene 56662 VTRNA1-3 ENSG00000202515 -612698 gene 406963 MIR187 ENSG00000207797 -612699 gene 85376 RIMBP3 ENSG00000275793 -612700 gene 440804 RIMBP3B ENSG00000274600 -612701 gene 150221 RIMBP3C ENSG00000183246 -612702 phenotype -612703 phenotype -612704 gene 400966 RGPD1 ENSG00000187627 -612705 gene 729857 RGPD2 ENSG00000185304 -612706 gene 653489 RGPD3 ENSG00000153165 -612707 gene 285190 RGPD4 ENSG00000196862 -612708 gene 84220 RGPD5 ENSG00000015568 -612709 gene 729540 RGPD6 ENSG00000183054 -612710 gene -612711 gene 9648 GCC2 ENSG00000135968 -612712 phenotype -612713 phenotype -612714 phenotype -612715 phenotype 100301525 -612716 phenotype -612717 phenotype 100294716 -612718 phenotype -612719 gene 5805 PTS ENSG00000150787 -612720 gene 54505 DHX29 ENSG00000067248 -612721 gene 389075 RESP18 ENSG00000182698 -612722 gene 55140 ELP3 ENSG00000134014 -612723 gene 130271 PLEKHH2 ENSG00000152527 -612724 gene 229 ALDOB ENSG00000136872 -612725 gene 5537 PPP6C ENSG00000119414 -612726 moved/removed -612727 phenotype 100294717 -612728 phenotype 100294718 -612729 phenotype 100294719 -612730 gene 23315 SLC9A8 ENSG00000197818 -612731 phenotype -612732 gene 1371 CPOX ENSG00000080819 -612733 gene 8563 THOC5 ENSG00000100296 -612734 gene 100038246 TLX1NB ENSG00000236311 -612735 gene 3125 HLA-DRB3 -612736 phenotype -612737 phenotype 100301526 -612738 gene 285335 SLC9C1 ENSG00000172139 -612739 gene 81833 SPACA1 ENSG00000118434 -612740 phenotype -612741 gene 333929 SNAI3 ENSG00000185669 -612742 gene 406995 MIR181A1 ENSG00000207759 -612743 gene 406954 MIR181A2 ENSG00000207595 -612744 gene 406955 MIR181B1 ENSG00000207975 -612745 gene 406956 MIR181B2 ENSG00000207737 -612746 gene 406957 MIR181C ENSG00000207613 -612747 gene 24144 TFIP11 ENSG00000100109 -612748 gene 119180 LYZL2 ENSG00000151033 -612749 gene 124912 SPACA3 ENSG00000141316 -612750 gene 131375 LYZL4 ENSG00000157093 -612751 gene 57151 LYZL6 ENSG00000275722 -612752 gene 51523 CXXC5 ENSG00000171604 -612753 gene 147372 CCBE1 ENSG00000183287 -612754 gene 10539 GLRX3 ENSG00000108010 -612755 gene 80018 NAA25 ENSG00000111300 -612756 gene 146771 TCAM1P ENSG00000240280 -612757 gene 338328 GPIHBP1 ENSG00000277494 -612758 gene 202018 TAPT1 ENSG00000169762 -612759 phenotype 100301527 -612760 gene 54861 SNRK ENSG00000163788 -612761 gene 56916 SMARCAD1 ENSG00000163104 -612762 gene 9913 SUPT7L ENSG00000119760 -612763 gene 117143 TADA1 ENSG00000152382 -612764 gene 57461 ISY1 ENSG00000240682 -612765 gene 9814 SFI1 ENSG00000198089 -612766 gene 29086 BABAM1 ENSG00000105393 -612767 gene 170506 DHX36 ENSG00000174953 -612768 gene 57600 FNIP2 ENSG00000052795 -612769 gene 283131 NEAT1 ENSG00000245532 -612770 gene 23761 PISD ENSG00000241878 -612771 gene 90527 DUOXA1 ENSG00000140254 -612772 gene 405753 DUOXA2 ENSG00000140274 -612773 gene 4059 BCAM ENSG00000187244 -612774 gene 259292 TAS2R46 ENSG00000226761 -612775 phenotype -612776 phenotype -612777 predominantly phenotypes -612778 gene 29072 SETD2 ENSG00000181555 -612779 gene 1806 DPYD ENSG00000188641 -612780 phenotype -612781 phenotype -612782 phenotype -612783 phenotype -612784 gene 25764 HYPK ENSG00000242028 -612785 predominantly phenotypes -612786 gene 219771 CCNY ENSG00000108100 -612787 gene 150962 PUS10 ENSG00000162927 -612788 gene 94234 FOXQ1 ENSG00000164379 -612789 phenotype 100302513 -612790 gene 64283 ARHGEF28 ENSG00000214944 -612791 gene 80317 ZKSCAN3 ENSG00000189298 -612792 gene 9791 PTDSS1 ENSG00000156471 -612793 gene 81490 PTDSS2 ENSG00000174915 -612794 phenotype -612795 phenotype 100302559 -612796 phenotype 100302059 -612797 phenotype -612798 phenotype -612799 gene 124454 EARS2 ENSG00000103356 -612800 gene 79587 CARS2 ENSG00000134905 -612801 gene 55699 IARS2 ENSG00000067704 -612802 gene 57176 VARS2 ENSG00000137411 -612803 gene 79731 NARS2 ENSG00000137513 -612804 gene 54938 SARS2 ENSG00000104835 -612805 gene 80222 TARS2 ENSG00000143374 -612806 gene 51463 GPR89B ENSG00000188092 -612807 gene 57622 LRFN1 ENSG00000128011 -612808 gene 57497 LRFN2 ENSG00000156564 -612809 gene 79414 LRFN3 ENSG00000126243 -612810 gene 78999 LRFN4 ENSG00000173621 -612811 gene 145581 LRFN5 ENSG00000165379 -612812 gene 345456 PFN3 ENSG00000196570 -612813 phenotype -612814 gene 132671 SPATA18 ENSG00000163071 -612815 gene 54503 ZDHHC13 ENSG00000177054 -612816 gene 51096 UTP18 ENSG00000011260 -612817 gene 11103 KRR1 ENSG00000111615 -612818 gene 51203 NUSAP1 ENSG00000137804 -612819 gene 79050 NOC4L ENSG00000184967 -612820 gene 27020 NPTN ENSG00000156642 -612821 gene 653519 GPR89A ENSG00000117262 -612822 gene 27340 UTP20 ENSG00000120800 -612823 gene 79101 TAF1D ENSG00000166012 -612824 gene 266629 SEC14L3 ENSG00000100012 -612825 gene 284904 SEC14L4 ENSG00000133488 -612826 gene 81537 SGPP1 ENSG00000126821 -612827 gene 130367 SGPP2 ENSG00000163082 -612828 gene 10153 CEBPZ ENSG00000115816 -612829 gene 115827 RAB3C ENSG00000152932 -612830 gene 9249 DHRS3 ENSG00000162496 -612831 gene 51170 HSD17B11 ENSG00000198189 -612832 gene 51171 HSD17B14 ENSG00000087076 -612833 gene 51635 DHRS7 ENSG00000100612 -612834 gene 23187 PHLDB1 ENSG00000019144 -612835 gene 23007 PLCH1 ENSG00000114805 -612836 gene 9651 PLCH2 ENSG00000149527 -612837 gene 57017 COQ9 ENSG00000088682 -612838 phenotype -612839 gene 54790 TET2 ENSG00000168769 -612840 phenotype -612841 phenotype -612842 gene 23551 RASD2 ENSG00000100302 -612843 phenotype -612844 gene 26168 SENP3 ENSG00000161956 -612845 gene 205564 SENP5 ENSG00000119231 -612846 gene 57337 SENP7 ENSG00000138468 -612847 phenotype -612848 gene 644096 SDHAF1 ENSG00000205138 -612849 gene 64854 USP46 ENSG00000109189 -612850 gene 347733 TUBB2B ENSG00000137285 -612851 phenotype 100302514 -612852 phenotype -612853 phenotype 100302561 -612854 gene 9919 SEC16A ENSG00000148396 -612855 gene 89866 SEC16B ENSG00000120341 -612856 gene 23245 ASTN2 ENSG00000148219 -612857 gene 219348 PLAC9 ENSG00000189129 -612858 phenotype 100302515 -612859 gene 201633 TIGIT ENSG00000181847 -612860 gene 169714 QSOX2 ENSG00000165661 -612861 gene 51491 NOP16 ENSG00000048162 -612862 phenotype 100302516 -612863 phenotype -612864 gene 283748 PLA2G4D ENSG00000159337 -612865 gene 138429 PIP5KL1 ENSG00000167103 -612866 gene 199857 ALG14 ENSG00000172339 -612867 predominantly phenotypes -612868 phenotype -612869 gene 26033 ATRNL1 ENSG00000107518 -612870 gene 55023 PHIP ENSG00000146247 -612871 gene 79570 NKAIN1 ENSG00000084628 -612872 gene 286183 NKAIN3 ENSG00000185942 -612873 gene 128414 NKAIN4 ENSG00000101198 -612874 phenotype -612875 predominantly phenotypes 114814 GNRHR2 ENSG00000211451 -612876 phenotype 140451 -612877 phenotype -612878 gene 23086 EXPH5 ENSG00000110723 -612879 gene 256691 MAMDC2 ENSG00000165072 -612880 gene 54843 SYTL2 ENSG00000137501 -612881 phenotype -612882 phenotype 100302562 -612883 phenotype 100302563 -612884 phenotype 100302517 -612885 phenotype -612886 phenotype 100302519 -612887 gene 55752 SEPTIN11 ENSG00000138758 -612888 gene 23507 LRRC8B ENSG00000197147 -612889 gene 84230 LRRC8C ENSG00000171488 -612890 gene 55144 LRRC8D ENSG00000171492 -612891 gene 80131 LRRC8E ENSG00000171017 -612892 phenotype 100302683 -612893 phenotype 100302684 -612894 phenotype 100302685 -612895 gene 64359 NXN ENSG00000167693 -612896 gene 201299 RDM1 ENSG00000278023 -612897 gene 1731 SEPTIN1 ENSG00000180096 -612898 gene 51117 COQ4 ENSG00000167113 -612899 phenotype -612900 phenotype -612901 gene 81027 TUBB1 ENSG00000101162 -612902 gene 138307 LCN8 ENSG00000204001 -612903 gene 392399 LCN9 ENSG00000148386 -612904 gene 414332 LCN10 ENSG00000187922 -612905 gene 286256 LCN12 ENSG00000184925 -612906 gene 10981 RAB32 ENSG00000118508 -612907 gene 51095 TRNT1 ENSG00000072756 -612908 phenotype -612909 gene 84084 RAB6C ENSG00000222014 -612910 gene 79142 PHF23 ENSG00000040633 -612911 gene 25915 NDUFAF3 ENSG00000178057 -612912 gene 27346 TMEM97 ENSG00000109084 -612913 phenotype -612914 gene 55588 MED29 ENSG00000063322 -612915 gene 9477 MED20 ENSG00000124641 -612916 predominantly phenotypes -612917 predominantly phenotypes -612918 phenotype -612919 gene 55915 LANCL2 ENSG00000132434 -612920 gene 54084 TSPEAR ENSG00000175894 -612921 phenotype -612922 phenotype -612923 phenotype -612924 phenotype -612925 phenotype -612926 phenotype -612927 gene 23080 AVL9 ENSG00000105778 -612928 gene 79763 ISOC2 ENSG00000063241 -612929 phenotype 100302686 -612930 gene 55022 PID1 ENSG00000153823 -612931 gene 5224 PGAM2 ENSG00000164708 -612932 phenotype -612933 phenotype -612934 moved/removed -612935 gene 23164 MPRIP ENSG00000133030 -612936 phenotype -612937 phenotype -612938 phenotype -612939 gene 23640 HSPBP1 ENSG00000133265 -612940 phenotype -612941 gene 55660 PRPF40A ENSG00000196504 -612942 gene 57111 RAB25 ENSG00000132698 -612943 phenotype -612944 gene 8635 RNASET2 ENSG00000026297 -612945 gene 53916 RAB4B ENSG00000167578 -612946 phenotype -612947 predominantly phenotypes -612948 predominantly phenotypes -612949 phenotype -612950 phenotype -612951 phenotype -612952 phenotype -612953 phenotype -612954 phenotype -612955 phenotype -612956 phenotype -612957 phenotype 100302718 -612958 gene 51204 TACO1 ENSG00000136463 -612959 gene 54845 ESRP1 ENSG00000104413 -612960 gene 80004 ESRP2 ENSG00000103067 -612961 phenotype -612962 gene 84516 DCTN5 ENSG00000166847 -612963 gene 10671 DCTN6 ENSG00000104671 -612964 phenotype -612965 phenotype -612966 gene 57403 RAB22A ENSG00000124209 -612967 phenotype 100302719 -612968 phenotype -612969 gene 91151 TIGD7 ENSG00000140993 -612970 predominantly phenotypes 401967 NBPF17P ENSG00000179571 -612971 gene 79955 PDZD7 ENSG00000186862 -612972 gene 200765 TIGD1 ENSG00000221944 -612973 gene 166815 TIGD2 ENSG00000180346 -612974 gene 64798 DEPTOR ENSG00000155792 -612975 phenotype -612976 phenotype 100302721 -612977 gene 23142 DCUN1D4 ENSG00000109184 -612978 gene 643866 CBLN3 ENSG00000139899 -612979 gene 90196 SYS1 ENSG00000204070 -612980 gene 55272 IMP3 ENSG00000177971 -612981 gene 92856 IMP4 ENSG00000136718 -612982 gene 406992 MIR210 ENSG00000199038 -612983 gene 406900 MIR106B ENSG00000208036 -612984 gene 407050 MIR93 ENSG00000207757 -612985 gene 79191 IRX3 ENSG00000177508 -612986 gene 493861 EID3 ENSG00000255150 -612987 gene 54780 NSMCE4A ENSG00000107672 -612988 gene 84233 TMEM126A ENSG00000171202 -612989 phenotype -612990 gene 171023 ASXL1 ENSG00000171456 -612991 gene 55252 ASXL2 ENSG00000143970 -612992 gene 84224 NBPF3 ENSG00000142794 -612993 gene 11259 FILIP1L ENSG00000168386 -612994 gene 9364 RAB28 ENSG00000157869 -612995 gene 7240 TRV-CAC1-2 -612996 gene 790966 TRK-CTT2-3 -612997 phenotype -612998 phenotype -612999 phenotype -613000 phenotype -613001 phenotype -613002 phenotype -613003 phenotype -613004 gene 3064 HTT ENSG00000197386 -613005 predominantly phenotypes -613006 phenotype 100303715 -613007 phenotype 100303716 -613008 phenotype 100303717 -613009 gene 51091 SEPSECS ENSG00000109618 -613010 gene 55312 RFK ENSG00000135002 -613011 phenotype -613012 gene 131669 UROC1 ENSG00000159650 -613013 phenotype -613014 phenotype -613015 phenotype 100306937 -613016 phenotype 100306938 -613017 phenotype 100306939 -613018 gene 6898 TAT ENSG00000198650 -613019 gene 54949 SDHAF2 ENSG00000167985 -613020 moved/removed -613021 phenotype -613022 gene 4967 OGDH ENSG00000105953 -613023 gene 9859 CEP170 ENSG00000143702 -613024 phenotype 100306940 -613025 phenotype 100329170 -613026 phenotype -613027 phenotype -613028 phenotype -613029 phenotype -613030 phenotype 100415894 -613031 phenotype 100415895 -613032 phenotype 101409265 -613033 phenotype 100316847 -613034 moved/removed -613035 phenotype -613036 gene 23203 PMPCA ENSG00000165688 -613037 gene 56623 INPP5E ENSG00000148384 -613038 phenotype -613039 gene 9557 CHD1L ENSG00000131778 -613040 gene 137196 CCDC26 ENSG00000229140 -613041 gene 55138 FAM90A1 ENSG00000171847 -613042 gene 389611 FAM90A3P -613043 gene 441315 FAM90A5P -613044 gene 441317 FAM90A7 ENSG00000285975 -613045 gene 441324 FAM90A8 ENSG00000285937 -613046 gene 441327 FAM90A9 ENSG00000285607 -613047 gene 441328 FAM90A10 ENSG00000285950 -613048 gene 645879 FAM90A12P ENSG00000254229 -613049 gene 441314 FAM90A13P -613050 gene 645651 FAM90A14 ENSG00000285814 -613051 gene 389630 FAM90A15P -613052 gene 441326 FAM90A18 ENSG00000285913 -613053 gene 728753 FAM90A19 ENSG00000285657 -613054 gene 728430 FAM90A20P -613055 phenotype 100306979 -613056 gene 51631 LUC7L2 ENSG00000146963 -613057 gene 407016 MIR26A2 ENSG00000207789 -613058 phenotype 100307119 -613059 phenotype 100307120 -613060 phenotype -613061 phenotype 100307121 -613062 phenotype 100307122 -613063 phenotype 100307123 -613064 phenotype 100310755 -613065 phenotype 100310785 -613066 gene 63876 PKNOX2 ENSG00000165495 -613067 phenotype 100310786 -613068 phenotype -613069 gene 55274 PHF10 ENSG00000130024 -613070 phenotype -613071 phenotype -613072 gene 125336 LOXHD1 ENSG00000167210 -613073 phenotype -613074 phenotype -613075 phenotype -613076 phenotype -613077 phenotype -613078 phenotype -613079 phenotype -613080 phenotype -613081 gene 221656 KDM1B ENSG00000165097 -613082 gene 9914 ATP2C2 ENSG00000064270 -613083 gene 26046 LTN1 ENSG00000198862 -613084 gene 23040 MYT1L ENSG00000186487 -613085 phenotype 399565 -613086 phenotype -613087 phenotype -613088 phenotype 100312955 -613089 phenotype -613090 phenotype -613091 phenotype -613092 phenotype -613093 phenotype -613094 phenotype -613095 phenotype -613096 phenotype 791228 -613097 moved/removed -613098 phenotype -613099 phenotype -613100 phenotype -613101 phenotype -613102 phenotype -613103 gene 84530 SRRM4 ENSG00000139767 -613104 gene 11094 CACFD1 ENSG00000160325 -613105 phenotype -613106 phenotype 100313948 -613107 phenotype -613108 phenotype -613109 gene 2760 GM2A ENSG00000196743 -613110 gene 10904 BLCAP ENSG00000166619 -613111 gene 5476 CTSA ENSG00000064601 -613112 phenotype -613113 gene 4763 NF1 ENSG00000196712 -613114 gene 54463 RETREG1 ENSG00000154153 -613115 phenotype -613116 phenotype -613117 gene 26799 SNORD50A -613118 phenotype -613119 phenotype -613120 phenotype -613121 gene 91624 NEXN ENSG00000162614 -613122 phenotype -613123 phenotype -613124 predominantly phenotypes -613125 gene 56675 NRIP3 ENSG00000175352 -613126 gene 84722 PSRC1 ENSG00000134222 -613127 gene 25884 CHRDL2 ENSG00000054938 -613128 gene 79991 STN1 ENSG00000107960 -613129 gene 80169 CTC1 ENSG00000178971 -613130 gene 100134934 TEN1 ENSG00000257949 -613131 gene 554213 MIR449A ENSG00000198983 -613132 gene 693123 MIR449B ENSG00000207728 -613133 gene 10100 TSPAN2 ENSG00000134198 -613134 gene 10099 TSPAN3 ENSG00000140391 -613135 phenotype -613136 gene 10098 TSPAN5 ENSG00000168785 -613137 gene 10867 TSPAN9 ENSG00000011105 -613138 gene 23554 TSPAN12 ENSG00000106025 -613139 gene 27075 TSPAN13 ENSG00000106537 -613140 gene 23555 TSPAN15 ENSG00000099282 -613141 gene 113878 DTX2 ENSG00000091073 -613142 gene 196403 DTX3 ENSG00000178498 -613143 gene 151636 DTX3L ENSG00000163840 -613144 phenotype 100653393 -613145 phenotype 100322878 -613146 gene 406960 MIR184 ENSG00000207695 -613147 gene 406988 MIR205 ENSG00000284485 -613148 phenotype -613149 gene 100048912 CDKN2B-AS1 ENSG00000240498 -613150 phenotype -613151 phenotype -613152 phenotype -613153 phenotype -613154 phenotype -613155 phenotype -613156 phenotype -613157 phenotype -613158 phenotype -613159 phenotype -613160 gene 7450 VWF ENSG00000110799 -613161 phenotype -613162 phenotype -613163 phenotype -613164 phenotype 100359403 -613165 gene 124583 CANT1 ENSG00000171302 -613166 gene 166614 DCLK2 ENSG00000170390 -613167 gene 85443 DCLK3 ENSG00000163673 -613168 gene 5345 SERPINF2 ENSG00000167711 -613169 gene 200942 KLHDC8B ENSG00000185909 -613170 gene 10103 TSPAN1 ENSG00000117472 -613171 gene 282996 RBM20 ENSG00000203867 -613172 phenotype -613173 gene 257194 NEGR1 ENSG00000172260 -613174 phenotype -613175 gene 55181 SMG8 ENSG00000167447 -613176 gene 56006 SMG9 ENSG00000105771 -613177 phenotype -613178 gene 9811 CTIF ENSG00000134030 -613179 phenotype -613180 moved/removed -613181 gene 51027 BOLA1 ENSG00000178096 -613182 gene 552900 BOLA2 ENSG00000183336 -613183 gene 388962 BOLA3 ENSG00000163170 -613184 gene 55128 TRIM68 ENSG00000167333 -613185 gene 407052 MIR95 ENSG00000207807 -613186 gene 406892 MIR100 ENSG00000207994 -613187 gene 406895 MIR103A1 ENSG00000199035 -613188 gene 406896 MIR103A2 ENSG00000199024 -613189 gene 406901 MIR107 ENSG00000198997 -613190 gene 123872 DNAAF1 ENSG00000154099 -613191 gene 51207 DUSP13 ENSG00000079393 -613192 phenotype -613193 phenotype -613194 phenotype -613195 phenotype -613196 gene 54465 ETAA1 ENSG00000143971 -613197 gene 10906 TRAFD1 ENSG00000135148 -613198 gene 84787 KMT5C ENSG00000133247 -613199 gene 9344 TAOK2 ENSG00000149930 -613200 gene 23244 PDS5A ENSG00000121892 -613201 gene 63922 CHTF18 ENSG00000127586 -613202 gene 54921 CHTF8 ENSG00000168802 -613203 gene 79075 DSCC1 ENSG00000136982 -613204 phenotype -613205 phenotype -613206 phenotype -613207 phenotype 100415896 -613208 gene 7508 XPC ENSG00000154767 -613209 gene 57583 TMEM181 ENSG00000146433 -613210 gene 92715 DPH7 ENSG00000148399 -613211 phenotype -613212 gene 80755 AARSD1 ENSG00000266967 -613213 gene 1727 CYB5R3 ENSG00000100243 -613214 gene 256764 WDR72 ENSG00000166415 -613215 phenotype -613216 phenotype -613217 phenotype -613218 gene 1528 CYB5A ENSG00000166347 -613219 phenotype 100379216 -613220 gene 129787 TMEM18 ENSG00000151353 -613221 gene 23788 MTCH2 ENSG00000109919 -613222 gene 132789 GNPDA2 ENSG00000163281 -613223 phenotype -613224 phenotype -613225 phenotype -613226 gene 162979 ZNF296 ENSG00000170684 -613227 phenotype -613228 gene 175 AGA ENSG00000038002 -613229 phenotype -613230 gene 5184 PEPD ENSG00000124299 -613231 gene 26153 KIF26A ENSG00000066735 -613232 gene 79171 RBM42 ENSG00000126254 -613233 phenotype 100379217 -613234 gene 57552 NCEH1 ENSG00000144959 -613235 phenotype -613236 gene 100134444 KCNJ18 ENSG00000260458 -613237 phenotype -613238 phenotype 100379218 -613239 phenotype -613240 gene 151242 PPP1R1C ENSG00000150722 -613241 predominantly phenotypes -613242 gene 81706 PPP1R14C ENSG00000198729 -613243 phenotype -613244 phenotype -613245 gene 54776 PPP1R12C ENSG00000125503 -613246 gene 5502 PPP1R1A ENSG00000135447 -613247 gene 729359 PLIN4 ENSG00000167676 -613248 gene 440503 PLIN5 ENSG00000214456 -613249 gene 340900 EBLN1 ENSG00000223601 -613250 gene 55096 EBLN2 ENSG00000255423 -613251 phenotype -613252 phenotype -613253 moved/removed -613254 phenotype -613255 phenotype -613256 gene 54866 PPP1R14D ENSG00000166143 -613257 gene 84919 PPP1R15B ENSG00000158615 -613258 gene 162681 C18orf54 ENSG00000166845 -613259 gene 126638 RPTN ENSG00000215853 -613260 gene 448834 KPRP ENSG00000203786 -613261 gene 283659 PRTG ENSG00000166450 -613262 gene 51187 RSL24D1 ENSG00000137876 -613263 gene 387066 SNHG5 ENSG00000203875 -613264 gene 692088 SNORD50B ENSG00000275072 -613265 phenotype -613266 phenotype -613267 phenotype -613268 phenotype -613269 phenotype 100380874 -613270 phenotype -613271 phenotype 100380875 -613272 gene 51133 KCTD3 ENSG00000136636 -613273 gene 58493 INIP ENSG00000148153 -613274 gene 55034 MOCOS ENSG00000075643 -613275 gene 26051 PPP1R16B ENSG00000101445 -613276 gene 79650 USB1 ENSG00000103005 -613277 gene 51259 TMEM216 ENSG00000187049 -613278 gene 84464 SLX4 ENSG00000188827 -613279 gene 79882 ZC3H14 ENSG00000100722 -613280 phenotype -613281 gene 124460 SNX20 ENSG00000167208 -613282 phenotype 100380876 -613283 gene 389207 GRXCR1 ENSG00000215203 -613284 phenotype 100381206 -613285 phenotype -613286 phenotype -613287 phenotype -613288 gene 493829 TRIM72 ENSG00000177238 -613289 gene 724066 ATXN8 -613290 phenotype 100381207 -613291 phenotype -613292 gene 163486 DENND1B ENSG00000213047 -613293 gene 285590 SH3PXD2B ENSG00000174705 -613294 gene 10055 SAE1 ENSG00000142230 -613295 gene 10054 UBA2 ENSG00000126261 -613296 gene 55353 LAPTM4B ENSG00000104341 -613297 gene 10299 MARCHF6 ENSG00000145495 -613298 gene 90381 TICRR ENSG00000140534 -613299 gene 10144 FAM13A ENSG00000138640 -613300 gene 285512 FAM13A-AS1 ENSG00000248019 -613301 gene 389549 FEZF1 ENSG00000128610 -613302 gene 54784 ALKBH4 ENSG00000160993 -613303 gene 54890 ALKBH5 ENSG00000091542 -613304 gene 84964 ALKBH6 ENSG00000239382 -613305 gene 84266 ALKBH7 ENSG00000125652 -613306 gene 91801 ALKBH8 ENSG00000137760 -613307 phenotype -613308 phenotype -613309 phenotype -613310 phenotype -613311 gene 57128 LYRM4 ENSG00000214113 -613312 phenotype -613313 phenotype -613314 gene 6168 RPL37A ENSG00000197756 -613315 gene 6171 RPL41 ENSG00000229117 -613316 gene 57705 WDFY4 ENSG00000128815 -613317 gene 80344 DCAF11 ENSG00000100897 -613318 phenotype 100505381 -613319 phenotype -613320 phenotype -613321 gene 283464 GXYLT1 ENSG00000151233 -613322 gene 727936 GXYLT2 ENSG00000172986 -613323 gene 143162 FRMPD2 ENSG00000170324 -613324 gene 221178 SPATA13 ENSG00000182957 -613325 phenotype -613326 gene 1807 DPYS ENSG00000147647 -613327 phenotype -613328 phenotype -613329 phenotype -613330 phenotype -613331 gene 55016 MARCHF1 ENSG00000145416 -613332 gene 51257 MARCHF2 ENSG00000099785 -613333 gene 115123 MARCHF3 ENSG00000173926 -613334 gene 64844 MARCHF7 ENSG00000136536 -613335 gene 220972 MARCHF8 ENSG00000165406 -613336 gene 92979 MARCHF9 ENSG00000139266 -613337 gene 162333 MARCHF10 ENSG00000173838 -613338 gene 441061 MARCHF11 ENSG00000183654 -613339 phenotype 100415903 -613340 phenotype 100415904 -613341 phenotype -613342 predominantly phenotypes -613343 phenotype -613344 gene 57670 KIAA1549 ENSG00000122778 -613345 phenotype -613346 gene 729993 SHISA9 ENSG00000237515 -613347 phenotype -613348 phenotype -613349 gene 4942 OAT ENSG00000065154 -613350 gene 113278 SLC52A3 ENSG00000101276 -613351 gene 93663 ARHGAP18 ENSG00000146376 -613352 gene 51319 RSRC1 ENSG00000174891 -613353 phenotype -613354 gene 286262 TPRN ENSG00000176058 -613355 phenotype -613356 gene 9865 TRIL ENSG00000255690 -613357 gene 84929 FIBCD1 ENSG00000130720 -613358 gene 126133 ALDH16A1 ENSG00000161618 -613359 gene 130574 LYPD6 ENSG00000187123 -613360 gene 128338 DRAM2 ENSG00000156171 -613361 gene 116843 SLC18B1 ENSG00000146409 -613362 gene 51550 CINP ENSG00000100865 -613363 gene 89891 DYNC2I2 ENSG00000119333 -613364 phenotype 100359402 -613365 gene 133482 SLCO6A1 ENSG00000205359 -613366 gene 345274 SLC10A6 ENSG00000145283 -613367 gene 132660 LIN54 ENSG00000189308 -613368 gene 57571 CARNS1 ENSG00000172508 -613369 gene 11325 DDX42 ENSG00000198231 -613370 phenotype -613371 phenotype 100359393 -613372 gene 23376 UFL1 ENSG00000014123 -613373 gene 55689 YEATS2 ENSG00000163872 -613374 gene 112869 SGF29 ENSG00000176476 -613375 phenotype -613376 phenotype -613377 gene 153769 SH3RF2 ENSG00000156463 -613378 gene 87769 GGACT ENSG00000134864 -613379 gene 134147 CMBL ENSG00000164237 -613380 gene 340784 HMX3 ENSG00000188620 -613381 gene 875 CBS ENSG00000160200 -613382 phenotype -613383 gene 129138 ANKRD54 ENSG00000100124 -613384 gene 57018 CCNL1 ENSG00000163660 -613385 phenotype -613386 gene 51371 POMP ENSG00000132963 -613387 phenotype 100462725 -613388 phenotype -613389 gene 53919 SLCO1C1 ENSG00000139155 -613390 phenotype -613391 phenotype -613392 phenotype 100359399 -613393 phenotype -613394 gene 406929 MIR138-1 ENSG00000207954 -613395 gene 406930 MIR138-2 ENSG00000207649 -613396 gene 84677 DSCR8 ENSG00000198054 -613397 gene 10677 AVIL ENSG00000135407 -613398 phenotype -613399 phenotype -613400 gene 55256 ADI1 ENSG00000182551 -613401 gene 63894 VIPAS39 ENSG00000151445 -613402 phenotype -613403 gene 55654 TMEM127 ENSG00000135956 -613404 phenotype -613405 gene 100422910 MIR2861 ENSG00000284547 -613406 phenotype -613407 phenotype 100499166 -613408 gene 160857 CCDC122 ENSG00000151773 -613409 gene 144811 LACC1 ENSG00000179630 -613410 phenotype -613411 phenotype -613412 phenotype 100499167 -613413 gene 54664 TMEM106B ENSG00000106460 -613414 gene 400935 IL17REL ENSG00000188263 -613415 gene 548596 CKMT1A ENSG00000223572 -613416 gene 85477 SCIN ENSG00000006747 -613417 gene 55578 SUPT20H ENSG00000102710 -613418 phenotype -613419 gene 201516 ZSCAN4 ENSG00000180532 -613420 gene 284252 KCTD1 ENSG00000134504 -613421 gene 83892 KCTD10 ENSG00000110906 -613422 gene 23510 KCTD2 ENSG00000180901 -613423 gene 57528 KCTD16 ENSG00000183775 -613424 phenotype -613425 gene 388939 PCARE ENSG00000179270 -613426 phenotype -613427 gene 119504 ANAPC16 ENSG00000166295 -613428 phenotype -613429 gene 55142 HAUS2 ENSG00000137814 -613430 gene 79441 HAUS3 ENSG00000214367 -613431 gene 54930 HAUS4 ENSG00000092036 -613432 gene 23354 HAUS5 ENSG00000249115 -613433 gene 54801 HAUS6 ENSG00000147874 -613434 gene 93323 HAUS8 ENSG00000131351 -613435 phenotype -613436 phenotype -613437 gene 23149 FCHO1 ENSG00000130475 -613438 gene 115548 FCHO2 ENSG00000157107 -613439 gene 163882 CNST ENSG00000162852 -613440 phenotype 100502568 -613441 gene 6948 TCN2 ENSG00000185339 -613442 gene 390667 PTX4 ENSG00000251692 -613443 phenotype -613444 phenotype -613445 moved/removed -613446 gene 153241 CEP120 ENSG00000168944 -613447 gene 152185 SPICE1 ENSG00000163611 -613448 gene 440145 MZT1 ENSG00000204899 -613449 gene 653784 MZT2A ENSG00000173272 -613450 gene 80097 MZT2B ENSG00000152082 -613451 phenotype -613452 gene 57828 CATSPERG ENSG00000099338 -613453 phenotype -613454 phenotype -613455 gene 375056 MIA3 ENSG00000154305 -613456 phenotype -613457 phenotype -613458 phenotype -613459 phenotype 100502569 -613460 phenotype 100499168 -613461 gene 54741 LEPROT ENSG00000213625 -613462 phenotype 100499169 -613463 phenotype -613464 phenotype -613465 gene 29922 NME7 ENSG00000143156 -613466 gene 5202 PFDN2 ENSG00000143256 -613467 gene 79670 TUT7 ENSG00000083223 -613468 gene 427 ASAH1 ENSG00000104763 -613469 gene 60495 HPSE2 ENSG00000172987 -613470 phenotype -613471 phenotype -613472 gene 25989 ULK3 ENSG00000140474 -613473 gene 23335 WDR7 ENSG00000091157 -613474 gene 130617 ZFAND2B ENSG00000158552 -613475 gene 88745 RRP36 ENSG00000124541 -613476 gene 54842 MFSD6 ENSG00000151690 -613477 phenotype -613478 gene 29903 CCDC106 ENSG00000173581 -613479 gene 22994 CEP131 ENSG00000141577 -613480 phenotype -613481 gene 84660 CCDC62 ENSG00000130783 -613482 gene 81669 CCNL2 ENSG00000221978 -613483 gene 27319 BHLHE22 ENSG00000180828 -613484 gene 23013 SPEN ENSG00000065526 -613485 phenotype -613486 gene 693120 MIR33B ENSG00000207839 -613487 gene 406994 MIR212 ENSG00000267195 -613488 phenotype -613489 phenotype -613490 phenotype -613491 gene 125981 ACER1 ENSG00000167769 -613492 gene 340485 ACER2 ENSG00000177076 -613493 phenotype -613494 phenotype -613495 phenotype -613496 phenotype -613497 gene 3988 LIPA ENSG00000107798 -613498 phenotype 100528025 -613499 gene 221613 H2AC1 ENSG00000164508 -613500 phenotype -613501 phenotype -613502 phenotype -613503 gene 3118 HLA-DQA2 ENSG00000237541 -613504 gene 79038 ZFYVE21 ENSG00000100711 -613505 gene 389816 LRRC26 ENSG00000184709 -613506 phenotype -613507 phenotype -613508 phenotype -613509 phenotype -613510 gene 55004 LAMTOR1 ENSG00000149357 -613511 gene 643394 SPINK9 ENSG00000204909 -613512 gene 100381270 ZBED6 ENSG00000257315 -613513 gene 9877 ZC3H11A ENSG00000058673 -613514 gene 57829 ZP4 ENSG00000116996 -613515 gene 22863 ATG14 ENSG00000126775 -613516 gene 9711 RUBCN ENSG00000145016 -613517 phenotype -613518 phenotype 105463125 -613519 phenotype 105463126 -613520 gene 55785 FGD6 ENSG00000180263 -613521 gene 7389 UROD ENSG00000126088 -613522 gene 611 OPN1SW ENSG00000128617 -613523 phenotype -613524 gene 10806 SDCCAG8 ENSG00000054282 -613525 gene 170679 PSORS1C1 ENSG00000204540 -613526 gene 170680 PSORS1C2 ENSG00000204538 -613527 gene 51277 DNAJC27 ENSG00000115137 -613528 gene 143425 SYT9 ENSG00000170743 -613529 gene 22995 CEP152 ENSG00000103995 -613530 phenotype 100529230 -613531 gene 11191 PTENP1 ENSG00000237984 -613532 gene 51762 RAB8B ENSG00000166128 -613533 phenotype -613534 gene 22909 FAN1 ENSG00000198690 -613535 gene 79932 KIAA0319L ENSG00000142687 -613536 gene 389170 LEKR1 ENSG00000197980 -613537 gene 84166 NLRC5 ENSG00000140853 -613538 gene 55527 FEM1A ENSG00000141965 -613539 gene 10116 FEM1B ENSG00000169018 -613540 gene 171546 SPTSSA ENSG00000165389 -613541 gene 91574 MTRFR ENSG00000130921 -613542 gene 54516 MTRF1L ENSG00000112031 -613543 gene 81796 SLCO5A1 ENSG00000137571 -613544 phenotype -613545 phenotype 100529231 -613546 phenotype -613547 phenotype 100529227 -613548 phenotype 100529222 -613549 phenotype 100529223 -613550 phenotype -613551 phenotype -613552 gene 54103 GSAP ENSG00000186088 -613553 gene 63929 XPNPEP3 ENSG00000196236 -613554 phenotype -613555 gene 200424 TET3 ENSG00000187605 -613556 gene 724029 MIR659 ENSG00000207696 -613557 moved/removed -613558 phenotype -613559 phenotype -613560 gene 28989 NTMT1 ENSG00000148335 -613561 phenotype -613562 gene 343413 FCRL6 ENSG00000181036 -613563 phenotype -613564 phenotype -613565 gene 10277 UBE4B ENSG00000130939 -613566 phenotype -613567 gene 9204 ZMYM6 ENSG00000163867 -613568 gene 9202 ZMYM4 ENSG00000146463 -613569 gene 25777 SUN2 ENSG00000100242 -613570 gene 60526 LDAH ENSG00000118961 -613571 phenotype -613572 gene 222545 GPRC6A ENSG00000173612 -613573 phenotype -613574 gene 158219 TTC39B ENSG00000155158 -613575 phenotype -613576 phenotype 100505394 -613577 gene 57465 TBC1D24 ENSG00000162065 -613578 gene 5646 PRSS3 ENSG00000010438 -613579 gene 93978 CLEC6A ENSG00000205846 -613580 gene 51057 WDPCP ENSG00000143951 -613581 phenotype -613582 phenotype -613583 gene 284403 WDR62 ENSG00000075702 -613584 gene 160428 ALDH1L2 ENSG00000136010 -613585 gene 10430 TMEM147 ENSG00000105677 -613586 gene 28987 NOB1 ENSG00000141101 -613587 phenotype -613588 gene 10143 CLEC3A ENSG00000166509 -613589 phenotype -613590 gene 11120 BTN2A1 ENSG00000112763 -613591 gene 10385 BTN2A2 ENSG00000124508 -613592 gene 54718 BTN2A3P ENSG00000124549 -613593 gene 11119 BTN3A1 ENSG00000026950 -613594 gene 11118 BTN3A2 ENSG00000186470 -613595 gene 10384 BTN3A3 ENSG00000111801 -613596 gene 84140 FAM161A ENSG00000170264 -613597 gene 112817 HOGA1 ENSG00000241935 -613598 gene 130557 ZNF513 ENSG00000163795 -613599 gene 26090 ABHD12 ENSG00000100997 -613600 predominantly phenotypes -613601 predominantly phenotypes -613602 gene 57539 WDR35 ENSG00000118965 -613603 phenotype -613604 phenotype -613605 gene 92482 BBIP1 ENSG00000214413 -613606 phenotype 100529224 -613607 gene 387357 THEMIS ENSG00000172673 -613608 phenotype -613609 gene 3077 HFE ENSG00000010704 -613610 phenotype -613611 phenotype -613612 phenotype -613613 gene 100126336 MIR208B ENSG00000215991 -613614 gene 574501 MIR499A ENSG00000207635 -613615 phenotype -613616 phenotype -613617 phenotype -613618 phenotype -613619 gene 91179 SCARF2 ENSG00000244486 -613620 gene 26000 TBC1D10B ENSG00000169221 -613621 gene 80224 NUBPL ENSG00000151413 -613622 gene 55572 FOXRED1 ENSG00000110074 -613623 predominantly phenotypes -613624 gene 9640 ZNF592 ENSG00000166716 -613625 phenotype -613626 moved/removed -613627 predominantly phenotypes -613628 phenotype -613629 gene 63895 PIEZO2 ENSG00000154864 -613630 phenotype -613631 gene 253725 WASHC2C ENSG00000172661 -613632 gene 100287171 WASHC1 ENSG00000181404 -613633 gene 57706 DENND1A ENSG00000119522 -613634 gene 79958 DENND1C ENSG00000205744 -613635 gene 27102 EIF2AK1 ENSG00000086232 -613636 phenotype 100526790 -613637 phenotype 100526823 -613638 phenotype -613639 gene 283383 ADGRD1 ENSG00000111452 -613640 phenotype -613641 phenotype -613642 phenotype -613643 phenotype -613644 gene 55729 ATF7IP ENSG00000171681 -613645 gene 80063 ATF7IP2 ENSG00000166669 -613646 phenotype -613647 phenotype -613648 gene 79104 MEG8 -613649 gene 692215 SNORD112 ENSG00000275662 -613650 gene 767561 SNORD113-1 ENSG00000202191 -613651 gene 767577 SNORD114-1 ENSG00000199575 -613652 phenotype -613653 gene 9907 AP5Z1 ENSG00000242802 -613654 gene 494329 MIR380 ENSG00000198982 -613655 gene 338567 KCNK18 ENSG00000186795 -613656 phenotype -613657 phenotype -613658 phenotype -613659 phenotype -613660 phenotype -613661 phenotype -613662 phenotype -613663 gene 55164 SHQ1 ENSG00000144736 -613664 gene 219537 SMTNL1 ENSG00000214872 -613665 gene 2532 ACKR1 ENSG00000213088 -613666 gene 440138 ALG11 ENSG00000253710 -613667 gene 55084 SOBP ENSG00000112320 -613668 phenotype -613669 gene 55149 MTPAP ENSG00000107951 -613670 phenotype -613671 phenotype -613672 phenotype -613673 phenotype -613674 phenotype -613675 phenotype -613676 phenotype -613677 phenotype -613678 phenotype -613679 phenotype -613680 phenotype -613681 phenotype -613682 gene 406920 MIR130B ENSG00000283871 -613683 gene 55974 SLC50A1 ENSG00000169241 -613684 phenotype -613685 phenotype 100359400 -613686 phenotype -613687 gene 55010 PARPBP ENSG00000185480 -613688 phenotype -613689 phenotype 100529148 -613690 phenotype -613691 gene 23151 GRAMD4 ENSG00000075240 -613692 gene 23318 TUT4 ENSG00000134744 -613693 phenotype -613694 phenotype -613695 phenotype -613696 gene 642623 UBTFL1 ENSG00000255009 -613697 phenotype -613698 gene 788 SLC25A20 ENSG00000178537 -613699 gene 360203 GLT6D1 ENSG00000204007 -613700 phenotype -613701 gene 442901 MIR328 ENSG00000207948 -613702 phenotype -613703 phenotype -613704 phenotype -613705 phenotype -613706 phenotype -613707 phenotype -613708 phenotype -613709 gene 1939 EIF2D ENSG00000143486 -613710 phenotype -613711 phenotype -613712 phenotype -613713 gene 55795 PCID2 ENSG00000126226 -613714 gene 374383 NCR3LG1 ENSG00000188211 -613715 gene 51082 POLR1D ENSG00000186184 -613716 gene 724031 MIR661 ENSG00000207574 -613717 phenotype -613718 phenotype -613719 gene 253827 MSRB3 ENSG00000174099 -613720 phenotype -613721 phenotype -613722 phenotype -613723 phenotype -613724 phenotype -613725 gene 9481 SLC25A27 ENSG00000153291 -613726 gene 55129 ANO10 ENSG00000160746 -613727 gene 390594 KBTBD13 ENSG00000234438 -613728 phenotype -613729 phenotype -613730 phenotype -613731 phenotype -613732 moved/removed -613733 gene 4221 MEN1 ENSG00000133895 -613734 gene 84317 CCDC115 ENSG00000136710 -613735 phenotype -613736 phenotype -613737 phenotype -613738 gene 392636 AGMO ENSG00000187546 -613739 gene 29087 THYN1 ENSG00000151500 -613740 moved/removed -613741 gene 5836 PYGL ENSG00000100504 -613742 gene 2538 G6PC1 ENSG00000131482 -613743 phenotype -613744 phenotype -613745 gene 10393 ANAPC10 ENSG00000164162 -613746 gene 400500 BCAR4 ENSG00000262117 -613747 gene 347240 KIF24 ENSG00000186638 -613748 gene 54927 CHCHD3 ENSG00000106554 -613749 gene 339324 ZNF260 ENSG00000254004 -613750 phenotype -613751 phenotype -613752 phenotype -613753 gene 406993 MIR211 ENSG00000207702 -613754 gene 149603 RNF187 ENSG00000168159 -613755 gene 442900 MIR326 ENSG00000199090 -613756 phenotype -613757 phenotype -613758 phenotype -613759 phenotype -613760 gene 120103 SLC36A4 ENSG00000180773 -613761 phenotype -613762 phenotype -613763 phenotype -613764 gene 113178 SCAMP4 ENSG00000227500 -613765 phenotype -613766 gene 192683 SCAMP5 ENSG00000198794 -613767 phenotype -613768 gene 57674 RNF213 ENSG00000173821 -613769 phenotype -613770 gene 191585 PLAC4 ENSG00000280109 -613771 gene 374882 TMEM205 ENSG00000105518 -613772 gene 57565 KLHL14 ENSG00000197705 -613773 gene 22997 IGSF9B ENSG00000080854 -613774 gene 157922 CAMSAP1 ENSG00000130559 -613775 gene 23271 CAMSAP2 ENSG00000118200 -613776 phenotype -613777 gene 80020 FOXRED2 ENSG00000100350 -613778 phenotype -613779 phenotype -613780 phenotype -613781 gene 202243 CCDC125 ENSG00000183323 -613782 gene 22921 MSRB2 ENSG00000148450 -613783 phenotype -613784 phenotype -613785 gene 715 C1R ENSG00000159403 -613786 gene 406940 MIR148A ENSG00000199085 -613787 gene 442892 MIR148B ENSG00000199122 -613788 gene 406943 MIR152 ENSG00000207947 -613789 phenotype -613790 phenotype -613791 phenotype -613792 phenotype -613793 phenotype -613794 phenotype -613795 phenotype -613796 phenotype -613797 gene 260429 PRSS33 ENSG00000103355 -613798 gene 339829 CCDC39 ENSG00000284862 -613799 gene 55036 CCDC40 ENSG00000141519 -613800 phenotype -613801 phenotype -613802 gene 9761 MLEC ENSG00000110917 -613803 phenotype -613804 phenotype -613805 phenotype -613806 phenotype 100653366 -613807 phenotype -613808 phenotype -613809 phenotype -613810 phenotype -613811 phenotype -613812 phenotype -613813 gene 56890 MDM1 ENSG00000111554 -613814 gene 54902 TTC19 ENSG00000011295 -613815 gene 1589 CYP21A2 ENSG00000231852 -613816 gene 55148 UBR7 ENSG00000012963 -613817 gene 26010 SPATS2L ENSG00000196141 -613818 phenotype -613819 phenotype -613820 phenotype -613821 gene 5535 PPP3R2 ENSG00000188386 -613822 gene 151987 PPP4R2 ENSG00000163605 -613823 phenotype -613824 phenotype -613825 phenotype -613826 phenotype -613827 phenotype -613828 phenotype 100653381 -613829 phenotype -613830 phenotype -613831 gene 130507 UBR3 ENSG00000144357 -613832 moved/removed -613833 gene 151050 KANSL1L ENSG00000144445 -613834 phenotype -613835 phenotype -613836 phenotype 100653375 -613837 phenotype -613838 phenotype -613839 phenotype -613840 gene 57343 ZNF304 ENSG00000131845 -613841 gene 254048 UBN2 ENSG00000157741 -613842 gene 64412 GZF1 ENSG00000125812 -613843 phenotype -613844 gene 7388 UQCRH ENSG00000173660 -613845 phenotype -613846 gene 79867 TCTN2 ENSG00000168778 -613847 gene 26123 TCTN3 ENSG00000119977 -613848 phenotype -613849 phenotype -613850 phenotype -613851 gene 145270 PRIMA1 ENSG00000175785 -613852 phenotype -613853 moved/removed -613854 phenotype -613855 phenotype -613856 phenotype -613857 phenotype 100653367 -613858 gene 646960 PRSS56 ENSG00000237412 -613859 gene 89766 UMODL1 ENSG00000177398 -613860 phenotype -613861 phenotype -613862 phenotype -613863 phenotype 120325367 -613864 gene 57693 ZNF317 ENSG00000130803 -613865 phenotype -613866 gene 54979 PLAAT2 ENSG00000133328 -613867 gene 11145 PLAAT3 ENSG00000176485 -613868 gene 6563 SLC14A1 ENSG00000141469 -613869 phenotype -613870 phenotype -613871 gene 2184 FAH ENSG00000103876 -613872 gene 2159 F10 ENSG00000126218 -613873 phenotype -613874 phenotype -613875 moved/removed -613876 phenotype -613877 phenotype -613878 gene 2155 F7 ENSG00000057593 -613879 gene 7200 TRH ENSG00000170893 -613880 gene 22893 BAHD1 ENSG00000140320 -613881 phenotype -613882 phenotype -613883 gene 3792 KEL ENSG00000197993 -613884 phenotype -613885 phenotype -613886 phenotype -613887 phenotype -613888 gene 55288 RHOT1 ENSG00000126858 -613889 gene 89941 RHOT2 ENSG00000140983 -613890 gene 3284 HSD3B2 ENSG00000203859 -613891 gene 7372 UMPS ENSG00000114491 -613892 gene 23333 DPY19L1 ENSG00000173852 -613893 gene 283417 DPY19L2 ENSG00000177990 -613894 gene 147991 DPY19L3 ENSG00000178904 -613895 gene 286148 DPY19L4 ENSG00000156162 -613896 gene 669 BPGM ENSG00000172331 -613897 gene 2188 FANCF ENSG00000183161 -613898 gene 3155 HMGCL ENSG00000117305 -613899 gene 2176 FANCC ENSG00000158169 -613900 gene 343641 TGM6 ENSG00000166948 -613901 gene 51493 RTCB ENSG00000100220 -613902 gene 84858 ZNF503 ENSG00000165655 -613903 gene 163255 ZNF540 ENSG00000171817 -613904 gene 148266 ZNF569 ENSG00000196437 -613905 gene 80095 ZNF606 ENSG00000166704 -613906 gene 121274 ZNF641 ENSG00000167528 -613907 gene 22834 ZNF652 ENSG00000198740 -613908 phenotype -613909 phenotype -613910 gene 147657 ZNF480 ENSG00000198464 -613911 gene 84838 ZNF496 ENSG00000162714 -613912 phenotype -613913 phenotype -613914 gene 155061 ZNF746 ENSG00000181220 -613915 gene 100128927 ZBTB42 ENSG00000179627 -613916 phenotype -613917 gene 100507679 MUC22 ENSG00000261272 -613918 gene 285834 HCG22 ENSG00000228789 -613919 gene 221458 KIF6 ENSG00000164627 -613920 gene 493753 COA5 ENSG00000183513 -613921 gene 142910 LIPJ ENSG00000204022 -613922 gene 643414 LIPK ENSG00000204021 -613923 gene 340654 LIPM ENSG00000173239 -613924 gene 643418 LIPN ENSG00000204020 -613925 phenotype -613926 phenotype -613927 gene 717 C2 ENSG00000166278 -613928 gene 135656 MUCL3 ENSG00000168631 -613929 gene 27290 SPINK4 ENSG00000122711 -613930 phenotype 100653369 -613931 gene 114034 TOE1 ENSG00000132773 -613932 gene 51086 TNNI3K ENSG00000116783 -613933 phenotype -613934 gene 84866 TMEM25 ENSG00000149582 -613935 gene 157753 TMEM74 ENSG00000164841 -613936 gene 284114 TMEM102 ENSG00000181284 -613937 gene 55751 TMEM184C ENSG00000164168 -613938 phenotype 100653383 -613939 gene 64847 SPATA20 ENSG00000006282 -613940 gene 166378 SPATA5 ENSG00000145375 -613941 gene 10816 SPINT3 ENSG00000101446 -613942 gene 140732 SUN5 ENSG00000167098 -613943 phenotype -613944 phenotype 100653384 -613945 gene 85479 DNAJC5B ENSG00000147570 -613946 gene 285126 DNAJC5G ENSG00000163793 -613947 gene 54558 SPATA6 ENSG00000132122 -613948 gene 145946 SPATA8 ENSG00000185594 -613949 phenotype -613950 phenotype -613951 phenotype -613952 gene 54855 TENT5C ENSG00000183508 -613953 phenotype -613954 phenotype -613955 phenotype -613956 phenotype -613957 phenotype -613958 phenotype -613959 phenotype -613960 phenotype -613961 gene 259294 TAS2R19 ENSG00000212124 -613962 gene 259295 TAS2R20 ENSG00000255837 -613963 gene 259293 TAS2R30 ENSG00000256188 -613964 gene 259286 TAS2R40 ENSG00000221937 -613965 gene 259287 TAS2R41 ENSG00000221855 -613966 gene 353164 TAS2R42 ENSG00000186136 -613967 gene 259291 TAS2R45 -613968 gene 338398 TAS2R60 ENSG00000185899 -613969 phenotype 100653370 -613970 phenotype -613971 moved/removed -613972 phenotype -613973 gene 115004 CGAS ENSG00000164430 -613974 gene 55601 DDX60 ENSG00000137628 -613975 gene 10964 IFI44L ENSG00000137959 -613976 gene 2178 FANCE ENSG00000112039 -613977 phenotype -613978 phenotype -613979 gene 24148 PRPF6 ENSG00000101161 -613980 phenotype -613981 phenotype -613982 phenotype -613983 phenotype -613984 gene 2177 FANCD2 ENSG00000144554 -613985 phenotype -613986 phenotype -613987 phenotype -613988 phenotype -613989 phenotype -613990 phenotype -613991 gene 55561 CDC42BPG ENSG00000171219 -613992 gene 55844 PPP2R2D ENSG00000175470 -613993 gene 58498 MYL7 ENSG00000106631 -613994 gene 148545 NBPF4 ENSG00000196427 -613995 gene 100507044 NBPF5P -613996 gene 653149 NBPF6 ENSG00000186086 -613997 gene 343505 NBPF7P -613998 gene 728841 NBPF8 -613999 gene 400818 NBPF9 ENSG00000269713 -614000 gene 100132406 NBPF10 ENSG00000271425 -614001 gene 200030 NBPF11 ENSG00000263956 -614002 moved/removed -614003 gene 25832 NBPF14 ENSG00000270629 -614004 moved/removed -614005 moved/removed -614006 gene 101060226 NBPF19 ENSG00000271383 -614007 gene 100288142 NBPF20 ENSG00000162825 -614008 phenotype -614009 phenotype -614010 gene 54928 BPNT2 ENSG00000104331 -614011 gene 60359 ERVK-4 -614012 gene 60358 ERVK-5 -614013 gene 449619 ERVK-7 -614014 gene 390443 RNASE9 ENSG00000188655 -614015 gene 747 DAGLA ENSG00000134780 -614016 gene 221955 DAGLB ENSG00000164535 -614017 phenotype -614018 phenotype -614019 phenotype -614020 phenotype -614021 phenotype -614022 phenotype -614023 phenotype -614024 phenotype -614025 phenotype -614026 gene 55083 KIF26B ENSG00000162849 -614027 gene 84684 INSM2 ENSG00000168348 -614028 phenotype -614029 gene 245711 SPDYA ENSG00000163806 -614030 gene 387778 SPDYC ENSG00000204710 -614031 gene 57610 RANBP10 ENSG00000141084 -614032 gene 9878 TOX4 ENSG00000092203 -614033 predominantly phenotypes -614034 phenotype -614035 phenotype -614036 predominantly phenotypes -614037 predominantly phenotypes -614038 phenotype -614039 phenotype -614040 gene 168544 ZNF467 ENSG00000181444 -614041 gene 5925 RB1 ENSG00000139687 -614042 phenotype -614043 gene 9209 LRRFIP2 ENSG00000093167 -614044 predominantly phenotypes -614045 gene 64855 NIBAN2 ENSG00000136830 -614046 gene 55082 ARGLU1 ENSG00000134884 -614047 gene 441024 MTHFD2L ENSG00000163738 -614048 gene 222223 ELAPOR2 ENSG00000164659 -614049 phenotype -614050 phenotype -614051 moved/removed -614052 phenotype -614053 phenotype -614054 gene 57494 RIMKLB ENSG00000166532 -614055 predominantly phenotypes -614056 gene 9858 PPP1R26 ENSG00000196422 -614057 gene 574413 MIR409 ENSG00000199107 -614058 gene 3795 KHK ENSG00000138030 -614059 gene 442906 MIR338 ENSG00000283604 -614060 gene 100316868 HOTTIP -614061 gene 10562 OLFM4 ENSG00000102837 -614062 gene 9578 CDC42BPB ENSG00000198752 -614063 phenotype -614064 gene 9841 ZBTB24 ENSG00000112365 -614065 phenotype -614066 phenotype -614067 phenotype -614068 gene 112752 IFT43 ENSG00000119650 -614069 phenotype -614070 phenotype -614071 gene 100820829 MYZAP ENSG00000263155 -614072 phenotype -614073 phenotype -614074 phenotype -614075 phenotype -614076 phenotype -614077 phenotype -614078 phenotype -614079 phenotype -614080 phenotype -614081 phenotype -614082 phenotype -614083 phenotype -614084 gene 494551 WEE2 ENSG00000214102 -614085 gene 83695 RHNO1 ENSG00000171792 -614086 gene 345643 MCIDAS ENSG00000234602 -614087 moved/removed -614088 gene 3386 ICAM4 ENSG00000105371 -614089 phenotype -614090 phenotype -614091 phenotype -614092 gene 353116 RILPL1 ENSG00000188026 -614093 gene 196383 RILPL2 ENSG00000150977 -614094 gene 91862 MARVELD3 ENSG00000140832 -614095 gene 5106 PCK2 ENSG00000100889 -614096 phenotype -614097 phenotype -614098 phenotype -614099 phenotype -614100 phenotype -614101 phenotype -614102 phenotype -614103 phenotype -614104 phenotype -614105 phenotype -614106 gene 90523 MLIP ENSG00000146147 -614107 gene 402569 KPNA7 ENSG00000185467 -614108 gene 80341 BPIFB2 ENSG00000078898 -614109 gene 254240 BPIFC ENSG00000184459 -614110 gene 128859 BPIFB6 ENSG00000167104 -614111 phenotype -614112 gene 407037 MIR320A ENSG00000208037 -614113 phenotype -614114 phenotype -614115 phenotype -614116 phenotype -614117 gene 283849 EXOC3L1 ENSG00000179044 -614118 gene 128553 TSHZ2 ENSG00000182463 -614119 gene 57616 TSHZ3 ENSG00000121297 -614120 phenotype -614121 gene 167153 TENT2 ENSG00000164329 -614122 phenotype -614123 gene 54499 TMCO1 ENSG00000143183 -614124 gene 56261 GPCPD1 ENSG00000125772 -614125 gene 55211 DPPA4 ENSG00000121570 -614126 gene 64757 MTARC1 ENSG00000186205 -614127 gene 54996 MTARC2 ENSG00000117791 -614128 phenotype -614129 phenotype -614130 gene 132612 ADAD1 ENSG00000164113 -614131 phenotype -614132 moved/removed -614133 gene 253012 HEPACAM2 ENSG00000188175 -614134 phenotype -614135 phenotype -614136 gene 22878 TRAPPC8 ENSG00000153339 -614137 gene 100128327 TRAPPC3L ENSG00000173626 -614138 gene 60684 TRAPPC11 ENSG00000168538 -614139 gene 51112 TRAPPC12 ENSG00000171853 -614140 gene 23384 SPECC1L ENSG00000100014 -614141 gene 23321 TRIM2 ENSG00000109654 -614142 gene 79004 CUEDC2 ENSG00000107874 -614143 gene 79713 IGFLR1 ENSG00000126246 -614144 gene 27077 B9D1 ENSG00000108641 -614145 gene 83987 CCDC8 ENSG00000169515 -614146 gene 25943 DNAAF9 ENSG00000088854 -614147 gene 390664 C1QTNF8 ENSG00000184471 -614148 gene 387911 C1QTNF9B ENSG00000205863 -614149 phenotype 100682325 -614150 gene 91461 PKDCC ENSG00000162878 -614151 gene 55159 RFWD3 ENSG00000168411 -614152 phenotype -614153 phenotype -614154 gene 10528 NOP56 ENSG00000101361 -614155 gene 100302138 MIR1292 ENSG00000284481 -614156 phenotype -614157 moved/removed -614158 predominantly phenotypes 116814566 -614159 gene 84146 ZNF644 ENSG00000122482 -614160 phenotype -614161 gene 11107 PRDM5 ENSG00000138738 -614162 phenotype -614163 phenotype -614164 phenotype -614165 phenotype -614166 phenotype 100682326 -614167 phenotype -614168 gene 5105 PCK1 ENSG00000124253 -614169 gene 23218 NBEAL2 ENSG00000160796 -614170 phenotype -614171 phenotype -614172 phenotype -614173 phenotype -614174 gene 644890 MEIG1 ENSG00000197889 -614175 phenotype -614176 gene 57732 ZFYVE28 ENSG00000159733 -614177 gene 283229 CRACR2B ENSG00000177685 -614178 gene 84766 CRACR2A ENSG00000130038 -614179 gene 57611 ISLR2 ENSG00000167178 -614180 phenotype -614181 phenotype -614182 gene 57493 HEG1 ENSG00000173706 -614183 gene 115752 DIS3L ENSG00000166938 -614184 gene 129563 DIS3L2 ENSG00000144535 -614185 phenotype -614186 phenotype -614187 phenotype 100682260 -614188 phenotype -614189 gene 401647 GOLGA7B ENSG00000155265 -614190 phenotype -614191 gene 9681 DEPDC5 ENSG00000100150 -614192 moved/removed -614193 phenotype -614194 gene 57572 DOCK6 ENSG00000130158 -614195 phenotype -614196 phenotype -614197 gene 90550 MCU ENSG00000156026 -614198 phenotype -614199 phenotype -614200 phenotype 116814567 -614201 phenotype -614202 phenotype -614203 phenotype -614204 phenotype -614205 phenotype -614206 gene 26097 CHTOP ENSG00000160679 -614207 phenotype -614208 phenotype 100689014 -614209 phenotype -614210 phenotype 100682395 -614211 phenotype 29779 -614212 phenotype -614213 phenotype -614214 gene 89857 KLHL6 ENSG00000172578 -614215 gene 51008 ASCC1 ENSG00000138303 -614216 gene 84164 ASCC2 ENSG00000100325 -614217 gene 10973 ASCC3 ENSG00000112249 -614218 gene 124997 WDR81 ENSG00000167716 -614219 phenotype -614220 phenotype 100689215 -614221 phenotype 100689212 -614222 phenotype -614223 phenotype 100689216 -614224 phenotype -614225 phenotype -614226 phenotype -614227 phenotype 100689490 -614228 phenotype -614229 phenotype -614230 phenotype -614231 phenotype -614232 gene 3291 HSD11B2 ENSG00000176387 -614233 phenotype -614234 gene 128344 PIFO ENSG00000173947 -614235 gene 118987 PDZD8 ENSG00000165650 -614236 gene 55238 SLC38A7 ENSG00000103042 -614237 phenotype 100736250 -614238 phenotype 100736251 -614239 gene 144717 PHETA1 ENSG00000198324 -614240 gene 150368 PHETA2 ENSG00000177096 -614241 gene 253558 LCLAT1 ENSG00000172954 -614242 gene 220963 SLC16A9 ENSG00000165449 -614243 gene 26873 OPLAH ENSG00000178814 -614244 gene 23042 PDXDC1 ENSG00000179889 -614245 gene 197322 ACSF3 ENSG00000176715 -614246 gene 79903 NAA60 ENSG00000122390 -614247 gene 574480 MIR519D ENSG00000207981 -614248 gene 79834 PEAK1 ENSG00000173517 -614249 phenotype -614250 phenotype -614251 phenotype -614252 phenotype 100750328 -614253 moved/removed -614254 phenotype -614255 phenotype -614256 phenotype -614257 phenotype -614258 gene 11128 POLR3A ENSG00000148606 -614259 gene 149465 CFAP57 ENSG00000243710 -614260 gene 203228 C9orf72 ENSG00000147894 -614261 phenotype -614262 phenotype -614263 gene 100379571 BACE1-AS -614264 gene 257106 ARHGAP30 ENSG00000186517 -614265 phenotype -614266 phenotype -614267 gene 641372 ACOT6 ENSG00000205669 -614268 gene 221393 ADGRF4 ENSG00000153294 -614269 gene 387509 GPR153 ENSG00000158292 -614270 gene 255101 CFAP65 ENSG00000181378 -614271 gene 339230 CCDC137 ENSG00000185298 -614272 gene 60493 FASTKD5 ENSG00000215251 -614273 gene 119749 OR4C46 ENSG00000185926 -614274 gene 55206 SBNO1 ENSG00000139697 -614275 gene 147929 ZNF565 ENSG00000196357 -614276 gene 23228 PLCL2 ENSG00000154822 -614277 gene 55284 UBE2W ENSG00000104343 -614278 phenotype -614279 phenotype -614280 phenotype 100750238 -614281 gene 90952 ESAM ENSG00000149564 -614282 gene 51150 SDF4 ENSG00000078808 -614283 gene 113263 GLCCI1 ENSG00000106415 -614284 phenotype -614285 gene 338872 C1QTNF9 ENSG00000240654 -614286 phenotype -614287 gene 266553 OFCC1 -614288 gene 84129 ACAD11 ENSG00000240303 -614289 gene 80343 SEL1L2 ENSG00000101251 -614290 phenotype -614291 phenotype -614292 phenotype -614293 phenotype -614294 phenotype -614295 gene 80114 BICC1 ENSG00000122870 -614296 phenotype -614297 gene 83636 C19orf12 ENSG00000131943 -614298 phenotype -614299 phenotype -614300 phenotype -614301 gene 342371 ATXN1L ENSG00000224470 -614302 phenotype -614303 phenotype -614304 gene 406928 MIR137 ENSG00000284202 -614305 phenotype -614306 phenotype -614307 phenotype -614308 gene 348751 FTCDNL1 ENSG00000226124 -614309 gene 152992 TRMT44 ENSG00000155275 -614310 gene 80321 CEP70 ENSG00000114107 -614311 gene 79953 SYNDIG1 ENSG00000101463 -614312 gene 84225 ZMYND15 ENSG00000141497 -614313 gene 641371 ACOT1 ENSG00000184227 -614314 gene 122970 ACOT4 ENSG00000177465 -614315 gene 134526 ACOT12 ENSG00000172497 -614316 gene 143187 VTI1A ENSG00000151532 -614317 phenotype 100820757 -614318 phenotype 100820760 -614319 phenotype 100820763 -614320 phenotype -614321 phenotype -614322 phenotype -614323 phenotype -614324 phenotype -614325 phenotype -614326 phenotype -614327 phenotype -614328 phenotype -614329 phenotype 100852399 -614330 gene 165257 C1QL2 ENSG00000144119 -614331 phenotype -614332 phenotype -614333 phenotype 100852393 -614334 gene 23317 DNAJC13 ENSG00000138246 -614335 phenotype -614336 gene 51025 PAM16 ENSG00000217930 -614337 phenotype -614338 phenotype -614339 moved/removed -614340 phenotype -614341 phenotype 100852394 -614342 phenotype 100852401 -614343 phenotype 100852395 -614344 phenotype 100852398 -614345 phenotype 100852402 -614346 phenotype 100852403 -614347 phenotype 100852396 -614348 gene 84830 ADTRP ENSG00000111863 -614349 gene 27332 ZNF638 ENSG00000075292 -614350 phenotype -614351 gene 9688 NUP93 ENSG00000102900 -614352 gene 23165 NUP205 ENSG00000155561 -614353 gene 594842 HAS2-AS1 -614354 gene 55390 -614355 gene 84532 ACSS1 ENSG00000154930 -614356 gene 79611 ACSS3 ENSG00000111058 -614357 gene 116285 ACSM1 ENSG00000166743 -614358 gene 123876 ACSM2A ENSG00000183747 -614359 gene 348158 ACSM2B ENSG00000066813 -614360 gene 341392 ACSM4 ENSG00000215009 -614361 gene 54988 ACSM5 ENSG00000183549 -614362 gene 23205 ACSBG1 ENSG00000103740 -614363 gene 81616 ACSBG2 ENSG00000130377 -614364 gene 65985 AACS ENSG00000081760 -614365 gene 132949 AASDH ENSG00000157426 -614366 gene 55703 POLR3B ENSG00000013503 -614367 gene 91056 AP5B1 ENSG00000254470 -614368 gene 55745 AP5M1 ENSG00000053770 -614369 phenotype -614370 phenotype -614371 phenotype -614372 phenotype -614373 phenotype -614374 phenotype -614375 phenotype 100859927 -614376 phenotype -614377 phenotype -614378 phenotype -614379 phenotype -614380 phenotype -614381 phenotype -614382 phenotype -614383 phenotype -614384 gene 574449 MIR492 ENSG00000283998 -614385 phenotype -614386 gene 112476 PRRT2 ENSG00000167371 -614387 gene 116115 ZNF526 ENSG00000167625 -614388 phenotype -614389 phenotype -614390 phenotype -614391 phenotype -614392 gene 81550 TDRD3 ENSG00000083544 -614393 gene 221443 OARD1 ENSG00000124596 -614394 gene 90410 IFT20 ENSG00000109083 -614395 phenotype -614396 gene 23131 GPATCH8 ENSG00000186566 -614397 gene 84879 MFSD2A ENSG00000168389 -614398 gene 57608 JCAD ENSG00000165757 -614399 phenotype -614400 phenotype -614401 phenotype -614402 phenotype -614403 gene 64285 RHBDF1 ENSG00000007384 -614404 gene 79651 RHBDF2 ENSG00000129667 -614405 gene 56919 DHX33 ENSG00000005100 -614406 gene 388325 SCIMP ENSG00000161929 -614407 phenotype -614408 moved/removed -614409 phenotype -614410 gene 134265 AFAP1L1 ENSG00000157510 -614411 phenotype -614412 gene 375337 TOPAZ1 ENSG00000173769 -614413 gene 91703 ACY3 ENSG00000132744 -614414 phenotype 100861440 -614415 phenotype -614416 phenotype -614417 phenotype -614418 phenotype -614419 phenotype -614420 phenotype -614421 moved/removed -614422 phenotype 100861439 -614423 gene 65062 TMEM237 ENSG00000155755 -614424 phenotype -614425 gene 9675 TTI1 ENSG00000101407 -614426 gene 80185 TTI2 ENSG00000129696 -614427 gene 10194 TSHZ1 ENSG00000179981 -614428 gene 339488 TFAP2E ENSG00000116819 -614429 phenotype -614430 phenotype -614431 phenotype -614432 phenotype -614433 phenotype -614434 phenotype -614435 phenotype -614436 phenotype -614437 phenotype -614438 phenotype -614439 gene 80117 ARL14 ENSG00000179674 -614440 gene 23362 PSD3 ENSG00000156011 -614441 phenotype -614442 gene 23550 PSD4 ENSG00000125637 -614443 gene 10969 EBNA1BP2 ENSG00000117395 -614444 gene 9649 RALGPS1 ENSG00000136828 -614445 gene 151871 DPPA2 ENSG00000163530 -614446 gene 374868 ATP9B ENSG00000166377 -614447 gene 50486 G0S2 ENSG00000123689 -614448 gene 647309 GMNC ENSG00000205835 -614449 gene 64881 PCDH20 ENSG00000280165 -614450 phenotype -614451 gene 79993 ELOVL7 ENSG00000164181 -614452 gene 84896 ATAD1 ENSG00000138138 -614453 gene 57554 LRRC7 ENSG00000033122 -614454 gene 9690 UBE3C ENSG00000009335 -614455 phenotype -614456 phenotype -614457 phenotype -614458 phenotype -614459 gene 51524 TMEM138 ENSG00000149483 -614460 gene 55031 USP47 ENSG00000170242 -614461 gene 84300 UQCC2 ENSG00000137288 -614462 phenotype -614463 gene 65009 NDRG4 ENSG00000103034 -614464 phenotype -614465 phenotype -614466 phenotype -614467 moved/removed -614468 phenotype -614469 gene 51593 SRRT ENSG00000087087 -614470 phenotype -614471 gene 10869 USP19 ENSG00000172046 -614472 gene 63891 RNF123 ENSG00000164068 -614473 phenotype -614474 phenotype -614475 phenotype -614476 gene 79875 THSD4 ENSG00000187720 -614477 gene 157657 CFAP418 ENSG00000156172 -614478 gene 84987 COX14 ENSG00000178449 -614479 gene 27349 MCAT ENSG00000100294 -614480 phenotype -614481 gene 100861563 SCAANT1 ENSG00000280620 -614482 phenotype -614483 phenotype -614484 gene 25847 ANAPC13 ENSG00000129055 -614485 phenotype -614486 phenotype -614487 phenotype -614488 gene 100302172 MIR1258 ENSG00000221240 -614489 gene 693201 MIR616 ENSG00000208028 -614490 phenotype -614491 phenotype -614492 phenotype -614493 phenotype -614494 phenotype 100862681 -614495 phenotype -614496 phenotype -614497 phenotype -614498 phenotype -614499 phenotype -614500 phenotype -614501 phenotype -614502 gene 138162 PIERCE1 ENSG00000160345 -614503 gene 55220 KLHDC8A ENSG00000162873 -614504 phenotype -614505 gene 55033 FKBP14 ENSG00000106080 -614506 gene 221927 BRAT1 ENSG00000106009 -614507 phenotype -614508 phenotype -614509 gene 407055 MIR99A ENSG00000207638 -614510 gene 407056 MIR99B ENSG00000207550 -614511 gene 29969 MDFIC ENSG00000135272 -614512 gene 26092 TOR1AIP1 ENSG00000143337 -614513 gene 163590 TOR1AIP2 ENSG00000169905 -614514 phenotype -614515 gene 440435 GPR179 ENSG00000277399 -614516 gene 57171 DOLPP1 ENSG00000167130 -614517 gene 56938 ARNTL2 ENSG00000029153 -614518 gene 57798 GATAD1 ENSG00000157259 -614519 phenotype -614520 predominantly phenotypes -614521 phenotype -614522 gene 59349 KLHL12 ENSG00000117153 -614523 gene 574442 MIR489 ENSG00000207656 -614524 phenotype -614525 gene 84901 NFATC2IP ENSG00000176953 -614526 phenotype -614527 phenotype -614528 gene 100750246 HIF1A-AS1 -614529 gene 100750247 HIF1A-AS2 -614530 gene 55967 NDUFA12 ENSG00000184752 -614531 gene 221002 RASGEF1A ENSG00000198915 -614532 gene 153020 RASGEF1B ENSG00000138670 -614533 gene 246184 CDC26 ENSG00000176386 -614534 gene 51529 ANAPC11 ENSG00000141552 -614535 gene 125150 ZSWIM7 ENSG00000214941 -614536 gene 126074 SWSAP1 ENSG00000173928 -614537 gene 83938 LRMDA ENSG00000148655 -614538 gene 693155 MIR570 ENSG00000207650 -614539 gene 92797 HELB ENSG00000127311 -614540 moved/removed -614541 phenotype -614542 gene 388650 DIPK1A ENSG00000154511 -614543 gene 138311 DIPK1B ENSG00000165716 -614544 gene 125704 DIPK1C ENSG00000187773 -614545 gene 284361 EMC10 ENSG00000161671 -614546 phenotype -614547 gene 83640 RAMAC ENSG00000169612 -614548 gene 57515 SERINC1 ENSG00000111897 -614549 gene 347735 SERINC2 ENSG00000168528 -614550 gene 619189 SERINC4 ENSG00000184716 -614551 gene 256987 SERINC5 ENSG00000164300 -614552 gene 152002 XXYLT1 ENSG00000173950 -614553 gene 29104 N6AMT1 ENSG00000156239 -614554 gene 26017 FAM32A ENSG00000105058 -614555 gene 122786 FRMD6 ENSG00000139926 -614556 gene 57492 ARID1B ENSG00000049618 -614557 phenotype -614558 phenotype -614559 phenotype -614560 gene 23383 MAU2 ENSG00000129933 -614561 phenotype -614562 moved/removed -614563 phenotype -614564 phenotype -614565 phenotype -614566 gene 352909 DNAAF3 ENSG00000167646 -614567 gene 81624 DIAPH3 ENSG00000139734 -614568 gene 440279 UNC13C ENSG00000137766 -614569 phenotype -614570 gene 146909 KIF18B ENSG00000186185 -614571 gene 65250 CPLANE1 ENSG00000197603 -614572 gene 132625 ZFP42 ENSG00000179059 -614573 gene 57512 GPR158 ENSG00000151025 -614574 gene 79641 ROGDI ENSG00000067836 -614575 phenotype -614576 phenotype -614577 gene 152559 PAQR3 ENSG00000163291 -614578 gene 124222 PAQR4 ENSG00000162073 -614579 gene 79957 PAQR6 ENSG00000160781 -614580 gene 344838 PAQR9 ENSG00000188582 -614581 gene 221938 MMD2 ENSG00000136297 -614582 phenotype -614583 phenotype -614584 gene 54681 P4HTM ENSG00000178467 -614585 gene 112812 FDX2 ENSG00000267673 -614586 gene 25921 ZDHHC5 ENSG00000156599 -614587 gene 79094 CHAC1 ENSG00000128965 -614588 phenotype 100885773 -614589 gene 9652 TTC37 ENSG00000198677 -614590 phenotype 100885774 -614591 gene 388551 CEACAM16 ENSG00000213892 -614592 phenotype -614593 gene 9665 MARF1 ENSG00000166783 -614594 phenotype -614595 phenotype -614596 gene 407028 MIR302A ENSG00000207927 -614597 gene 442894 MIR302B ENSG00000284463 -614598 gene 442895 MIR302C ENSG00000199102 -614599 gene 442896 MIR302D ENSG00000199145 -614600 gene 442912 MIR367 ENSG00000199169 -614601 gene 284695 ZNF326 ENSG00000162664 -614602 phenotype -614603 gene 80821 DDHD1 ENSG00000100523 -614604 gene 55625 ZDHHC7 ENSG00000153786 -614605 gene 340481 ZDHHC21 ENSG00000175893 -614606 gene 54914 FOCAD ENSG00000188352 -614607 phenotype -614608 phenotype -614609 phenotype -614610 gene 25959 KANK2 ENSG00000197256 -614611 gene 256949 KANK3 ENSG00000186994 -614612 gene 163782 KANK4 ENSG00000132854 -614613 phenotype -614614 phenotype -614615 phenotype -614616 phenotype -614617 phenotype -614618 phenotype -614619 phenotype -614620 gene 9742 IFT140 ENSG00000187535 -614621 phenotype -614622 phenotype 100885801 -614623 phenotype 100885802 -614624 gene 115416 MALSU1 ENSG00000156928 -614625 gene 57291 DANCR ENSG00000226950 -614626 gene 677810 SNORA26 ENSG00000212588 -614627 gene 100616436 MIR4449 ENSG00000264585 -614628 phenotype 100885803 -614629 phenotype 100887822 -614630 gene 79747 ADGB ENSG00000118492 -614631 gene 729920 CRPPA ENSG00000214960 -614632 gene 57654 UVSSA ENSG00000163945 -614633 gene 51542 VPS54 ENSG00000143952 -614634 gene 57562 CEP126 ENSG00000110318 -614635 gene 100861504 LINC00538 -614636 gene 283446 MYO1H ENSG00000174527 -614637 gene 27351 DESI1 ENSG00000100418 -614638 gene 51029 DESI2 ENSG00000121644 -614639 gene 140685 ZBTB46 ENSG00000130584 -614640 phenotype -614641 gene 24141 LAMP5 ENSG00000125869 -614642 gene 57519 STARD9 ENSG00000159433 -614643 phenotype -614644 phenotype 100887753 -614645 phenotype 100887752 -614646 phenotype 100887751 -614647 gene 51004 COQ6 ENSG00000119723 -614648 gene 138046 RALYL ENSG00000184672 -614649 gene 81790 RNF170 ENSG00000120925 -614650 phenotype -614651 phenotype -614652 phenotype -614653 phenotype -614654 phenotype -614655 phenotype 100909386 -614656 gene 27143 PALD1 ENSG00000107719 -614657 gene 154810 AMOTL1 ENSG00000166025 -614658 gene 51421 AMOTL2 ENSG00000114019 -614659 gene 219287 AMER2 ENSG00000165566 -614660 gene 219988 PATL1 ENSG00000166889 -614661 gene 197135 PATL2 ENSG00000229474 -614662 phenotype -614663 gene 22913 RALY ENSG00000125970 -614664 gene 285852 TREML4 ENSG00000188056 -614665 phenotype -614666 gene 124093 CCDC78 ENSG00000162004 -614667 gene 25821 MTO1 ENSG00000135297 -614668 phenotype 100909385 -614669 phenotype -614670 phenotype -614671 phenotype -614672 phenotype -614673 phenotype -614674 phenotype -614675 phenotype -614676 phenotype 100909387 -614677 gene 388389 CCDC103 ENSG00000167131 -614678 phenotype -614679 phenotype -614680 phenotype -614681 gene 123688 HYKK ENSG00000188266 -614682 gene 64850 ETNPPL ENSG00000164089 -614683 gene 85007 PHYKPL ENSG00000175309 -614684 phenotype -614685 gene 146434 ZNF597 ENSG00000167981 -614686 gene 26240 FAM50B ENSG00000145945 -614687 predominantly phenotypes -614688 predominantly phenotypes -614689 phenotype -614690 gene 401115 C4orf48 ENSG00000243449 -614691 phenotype -614692 phenotype 101154649 -614693 gene 23300 ATMIN ENSG00000166454 -614694 gene 58490 RPRD1B ENSG00000101413 -614695 gene 23248 RPRD2 ENSG00000163125 -614696 moved/removed -614697 gene 83473 KATNAL2 ENSG00000167216 -614698 gene 116228 COX20 ENSG00000203667 -614699 phenotype -614700 phenotype -614701 phenotype -614702 phenotype -614703 gene 647135 SRGAP2B ENSG00000196369 -614704 gene 653464 SRGAP2C ENSG00000171943 -614705 gene 100996712 SRGAP2D -614706 phenotype -614707 phenotype -614708 gene 222663 SCUBE3 ENSG00000146197 -614709 gene 57149 LYRM1 ENSG00000102897 -614710 gene 729533 FAM72A ENSG00000196550 -614711 gene 653820 FAM72B ENSG00000188610 -614712 gene 728833 FAM72D ENSG00000215784 -614713 gene 644943 RASSF10 ENSG00000189431 -614714 phenotype -614715 gene 126259 TMIGD2 ENSG00000167664 -614716 gene 90668 CARMIL3 ENSG00000186648 -614717 gene 25906 ANAPC15 ENSG00000110200 -614718 gene 90417 KNSTRN ENSG00000128944 -614719 gene 56888 KCMF1 ENSG00000176407 -614720 gene 23097 CDK19 ENSG00000155111 -614721 gene 85453 TSPYL5 ENSG00000180543 -614722 gene 100422882 MIR3120 ENSG00000283152 -614723 phenotype -614724 gene 80254 CEP63 ENSG00000182923 -614725 gene 84947 SERAC1 ENSG00000122335 -614726 gene 55858 TMEM165 ENSG00000134851 -614727 phenotype -614728 phenotype -614729 gene 10980 COPS6 ENSG00000168090 -614730 gene 84720 PIGO ENSG00000165282 -614731 phenotype -614732 phenotype -614733 gene 406968 MIR193A ENSG00000207614 -614734 gene 574455 MIR193B ENSG00000207639 -614735 gene 100126355 MIR365A ENSG00000199130 -614736 phenotype -614737 gene 25874 MPC2 ENSG00000143158 -614738 gene 51660 MPC1 ENSG00000060762 -614739 phenotype -614740 phenotype -614741 phenotype -614742 phenotype -614743 phenotype -614744 phenotype -614745 phenotype -614746 phenotype 100996934 -614747 phenotype 100996935 -614748 phenotype -614749 phenotype -614750 phenotype -614751 phenotype -614752 phenotype -614753 phenotype -614754 gene 58524 DMRT3 ENSG00000064218 -614755 gene 574493 MIR520H ENSG00000207861 -614756 phenotype -614757 gene 387733 IFITM5 ENSG00000206013 -614758 gene 51164 DCTN4 ENSG00000132912 -614759 gene 220136 CFAP53 ENSG00000172361 -614760 gene 54896 SLC66A1 ENSG00000040487 -614761 gene 92292 GLYATL1 ENSG00000166840 -614762 gene 219970 GLYATL2 ENSG00000156689 -614763 gene 389396 GLYATL3 ENSG00000203972 -614764 gene 84056 KATNAL1 ENSG00000102781 -614765 gene 6801 STRN ENSG00000115808 -614766 gene 29966 STRN3 ENSG00000196792 -614767 gene 29888 STRN4 ENSG00000090372 -614768 gene 51669 SARAF ENSG00000133872 -614769 gene 55744 COA1 ENSG00000106603 -614770 gene 100131801 PET100 ENSG00000229833 -614771 gene 100303755 PET117 ENSG00000232838 -614772 gene 388753 COA6 ENSG00000168275 -614773 gene 118490 MSS51 ENSG00000166343 -614774 gene 26024 PTCD1 ENSG00000106246 -614775 gene 28958 COA3 ENSG00000183978 -614776 gene 23387 SIK3 ENSG00000160584 -614777 gene 64210 MMS19 ENSG00000155229 -614778 gene 51647 CIAO2B ENSG00000166595 -614779 phenotype -614780 gene 29887 SNX10 ENSG00000086300 -614781 gene 25851 TECPR1 ENSG00000205356 -614782 phenotype -614783 gene 25886 POC1A ENSG00000164087 -614784 gene 282809 POC1B ENSG00000139323 -614785 gene 56947 MFF ENSG00000168958 -614786 gene 131920 TMEM207 ENSG00000198398 -614787 gene 23126 POGZ ENSG00000143442 -614788 gene 152273 FGD5 ENSG00000154783 -614789 gene 285203 EOGT ENSG00000163378 -614790 gene 126374 WTIP ENSG00000142279 -614791 gene 406978 MIR199B ENSG00000207581 -614792 gene 83590 TMUB1 ENSG00000164897 -614793 gene 84451 MAP3K21 ENSG00000143674 -614794 gene 56894 AGPAT3 ENSG00000160216 -614795 gene 56895 AGPAT4 ENSG00000026652 -614796 gene 55326 AGPAT5 ENSG00000155189 -614797 gene 57162 PELI1 ENSG00000197329 -614798 gene 57161 PELI2 ENSG00000139946 -614799 gene 54955 C1orf109 ENSG00000116922 -614800 phenotype -614801 gene 339287 MSL1 ENSG00000188895 -614802 gene 55167 MSL2 ENSG00000174579 -614803 gene 63951 DMRTA1 ENSG00000176399 -614804 gene 63950 DMRTA2 ENSG00000142700 -614805 gene 63948 DMRTB1 ENSG00000143006 -614806 gene 63946 DMRTC2 ENSG00000142025 -614807 phenotype -614808 phenotype -614809 phenotype -614810 phenotype -614811 gene 112849 L3HYPDH ENSG00000126790 -614812 gene 26471 NUPR1 ENSG00000176046 -614813 phenotype -614814 phenotype -614815 phenotype -614816 phenotype -614817 phenotype -614818 gene 10129 FRY ENSG00000073910 -614819 phenotype -614820 phenotype -614821 gene 100886964 PTCSC3 -614822 phenotype -614823 phenotype -614824 gene 55317 AP5S1 ENSG00000125843 -614825 gene 85021 REPS1 ENSG00000135597 -614826 phenotype 101055624 -614827 gene 55735 DNAJC11 ENSG00000007923 -614828 gene 84892 POMGNT2 ENSG00000144647 -614829 gene 152816 ODAPH ENSG00000174792 -614830 phenotype -614831 phenotype -614832 phenotype -614833 phenotype -614834 phenotype 112272595 -614835 gene 345651 ACTBL2 ENSG00000169067 -614836 phenotype 101056702 -614837 phenotype -614838 phenotype -614839 phenotype -614840 phenotype -614841 phenotype -614842 phenotype -614843 gene 54959 ODAM ENSG00000109205 -614844 phenotype -614845 phenotype -614846 phenotype -614847 phenotype -614848 gene 22897 CEP164 ENSG00000110274 -614849 phenotype -614850 phenotype -614851 phenotype -614852 phenotype -614853 gene 51379 CRLF3 ENSG00000176390 -614854 gene 55379 LRRC59 ENSG00000108829 -614855 gene 57533 TBC1D14 ENSG00000132405 -614856 phenotype -614857 phenotype -614858 phenotype -614859 phenotype -614860 phenotype 115029024 -614861 phenotype -614862 phenotype -614863 phenotype -614864 gene 54919 DNAAF5 ENSG00000164818 -614865 gene 100419743 DBET ENSG00000281591 -614866 phenotype -614867 phenotype -614868 phenotype -614869 phenotype -614870 phenotype -614871 phenotype -614872 phenotype -614873 phenotype -614874 phenotype -614875 phenotype -614876 phenotype -614877 phenotype -614878 phenotype -614879 phenotype -614880 phenotype -614881 phenotype -614882 phenotype -614883 phenotype -614884 gene 200403 VWA3B ENSG00000168658 -614885 phenotype -614886 phenotype -614887 phenotype -614888 gene 79719 AAGAB ENSG00000103591 -614889 phenotype -614890 phenotype -614891 phenotype -614892 phenotype -614893 phenotype -614894 moved/removed -614895 phenotype -614896 phenotype -614897 phenotype -614898 phenotype -614899 phenotype -614900 phenotype -614901 gene 10295 BCKDK ENSG00000103507 -614902 gene 115703 ARHGAP33 ENSG00000004777 -614903 gene 64089 SNX16 ENSG00000104497 -614904 gene 51375 SNX7 ENSG00000162627 -614905 gene 29886 SNX8 ENSG00000106266 -614906 gene 29916 SNX11 ENSG00000002919 -614907 gene 55015 PRPF39 ENSG00000185246 -614908 gene 51501 HIKESHI ENSG00000149196 -614909 gene 134288 TMEM174 ENSG00000164325 -614910 gene 114904 C1QTNF6 ENSG00000133466 -614911 gene 114900 C1QTNF4 ENSG00000172247 -614912 gene 129293 TRABD2A ENSG00000186854 -614913 gene 388630 TRABD2B ENSG00000269113 -614914 gene 100126296 MIR298 ENSG00000216031 -614915 phenotype -614916 phenotype -614917 gene 55005 RMND1 ENSG00000155906 -614918 gene 55037 PTCD3 ENSG00000132300 -614919 gene 84273 NOA1 ENSG00000084092 -614920 phenotype -614921 phenotype -614922 phenotype -614923 phenotype -614924 phenotype -614925 gene 283310 OTOGL ENSG00000165899 -614926 phenotype -614927 phenotype 101101769 -614928 phenotype 101101770 -614929 phenotype -614930 gene 23639 DNAAF11 ENSG00000129295 -614931 phenotype -614932 phenotype -614933 gene 101154644 LINCMD1 -614934 phenotype -614935 phenotype -614936 phenotype 101154752 -614937 phenotype -614938 gene 100126299 VTRNA2-1 ENSG00000278815 -614939 gene 192111 PGAM5 ENSG00000247077 -614940 phenotype -614941 phenotype -614942 gene 9489 PGS1 ENSG00000087157 -614943 gene 51499 TRIAP1 ENSG00000170855 -614944 phenotype -614945 phenotype -614946 phenotype -614947 phenotype -614948 gene 132001 TAMM41 ENSG00000144559 -614949 gene 79583 TMEM231 ENSG00000205084 -614950 gene 200728 TMEM17 ENSG00000186889 -614951 gene 55027 HEATR3 ENSG00000155393 -614952 gene 162394 SLFN5 ENSG00000166750 -614953 gene 91607 SLFN11 ENSG00000172716 -614954 phenotype 101154642 -614955 gene 55106 SLFN12 ENSG00000172123 -614956 gene 100506736 SLFN12L ENSG00000205045 -614957 gene 146857 SLFN13 ENSG00000154760 -614958 gene 342618 SLFN14 ENSG00000236320 -614959 phenotype -614960 gene 201164 PLD6 ENSG00000179598 -614961 phenotype -614962 phenotype -614963 phenotype -614964 gene 392617 ELFN1 ENSG00000225968 -614965 gene 9805 SCRN1 ENSG00000136193 -614966 gene 90507 SCRN2 ENSG00000141295 -614967 gene 79634 SCRN3 ENSG00000144306 -614968 gene 63898 SH2D4A ENSG00000104611 -614969 phenotype -614970 phenotype -614971 gene 55000 TUG1 ENSG00000253352 -614972 phenotype -614973 phenotype -614974 phenotype -614975 gene 400550 FENDRR ENSG00000268388 -614976 phenotype -614977 gene 101154687 LINC01081 -614978 gene 100506542 LINC01082 ENSG00000269186 -614979 phenotype -614980 phenotype -614981 gene 93974 ATP5IF1 ENSG00000130770 -614982 gene 23347 SMCHD1 ENSG00000101596 -614983 gene 116071 BATF2 ENSG00000168062 -614984 gene 55526 DHTKD1 ENSG00000181192 -614985 gene 101101692 HELLPAR -614986 gene 55450 CAMK2N1 ENSG00000162545 -614987 gene 54869 EPS8L1 ENSG00000131037 -614988 gene 64787 EPS8L2 ENSG00000177106 -614989 gene 79574 EPS8L3 ENSG00000198758 -614990 phenotype 101180907 -614991 gene 101180899 -614992 gene 105372556 LINC00237 ENSG00000225127 -614993 gene 79012 CAMKV ENSG00000164076 -614994 gene 57172 CAMK1G ENSG00000008118 -614995 gene 132014 IL17RE ENSG00000163701 -614996 gene 101180900 -614997 gene 54815 GATAD2A ENSG00000167491 -614998 gene 57459 GATAD2B ENSG00000143614 -614999 gene 260293 CYP4X1 ENSG00000186377 -615000 gene 9895 TECPR2 ENSG00000196663 -615001 gene 85463 ZC3H12C ENSG00000149289 -615002 gene 10645 CAMKK2 ENSG00000110931 -615003 gene 23259 DDHD2 ENSG00000085788 -615004 gene 345193 LRIT3 ENSG00000183423 -615005 phenotype -615006 phenotype -615007 phenotype -615008 phenotype -615009 phenotype -615010 phenotype -615011 phenotype -615012 gene 8969 H2AC11 ENSG00000196787 -615013 gene 85235 H2AC12 ENSG00000274997 -615014 gene 317772 H2AC21 ENSG00000184270 -615015 gene 92815 H2AW ENSG00000181218 -615016 gene 442186 OR2J3 ENSG00000204701 -615017 gene 406931 MIR139 ENSG00000272036 -615018 phenotype -615019 gene 23587 ELP5 ENSG00000170291 -615020 gene 54859 ELP6 ENSG00000163832 -615021 phenotype -615022 phenotype 101202686 -615023 phenotype -615024 phenotype -615025 phenotype -615026 phenotype -615027 gene 58516 SINHCAF ENSG00000139146 -615028 phenotype -615029 gene 140689 CBLN4 ENSG00000054803 -615030 phenotype -615031 phenotype -615032 phenotype -615033 phenotype -615034 phenotype -615035 phenotype -615036 gene 574434 MIR410 ENSG00000199092 -615037 gene 664616 MIR487B ENSG00000207754 -615038 gene 93233 ODAD1 ENSG00000105479 -615039 gene 64579 NDST4 ENSG00000138653 -615040 phenotype -615041 phenotype -615042 phenotype -615043 phenotype -615044 gene 8970 H2BC11 ENSG00000124635 -615045 gene 85236 H2BC12 ENSG00000197903 -615046 gene 128312 H2BU1 ENSG00000196890 -615047 gene 26115 TANC2 ENSG00000170921 -615048 phenotype -615049 gene 51322 WAC ENSG00000095787 -615050 gene 140458 ASB5 ENSG00000164122 -615051 gene 140459 ASB6 ENSG00000148331 -615052 gene 140460 ASB7 ENSG00000183475 -615053 gene 140461 ASB8 ENSG00000177981 -615054 gene 136371 ASB10 ENSG00000146926 -615055 gene 79754 ASB13 ENSG00000196372 -615056 gene 92591 ASB16 ENSG00000161664 -615057 moved/removed -615058 phenotype -615059 phenotype -615060 gene 10648 SCGB1D1 ENSG00000168515 -615061 gene 10647 SCGB1D2 ENSG00000124935 -615062 gene 404552 SCGB1D4 ENSG00000197745 -615063 gene 284402 SCGB2B2 ENSG00000205209 -615064 gene 123096 SLC25A29 ENSG00000197119 -615065 phenotype -615066 phenotype -615067 phenotype -615068 gene 57724 EPG5 ENSG00000152223 -615069 gene 121504 H4-16 ENSG00000197837 -615070 gene 693175 MIR590 ENSG00000207741 -615071 phenotype -615072 phenotype -615073 phenotype -615074 phenotype -615075 phenotype -615076 gene 92667 MGME1 ENSG00000125871 -615077 gene 23329 TBC1D30 ENSG00000111490 -615078 gene 51026 GOLT1B ENSG00000111711 -615079 gene 55726 INTS13 ENSG00000064102 -615080 phenotype 101290498 -615081 phenotype -615082 phenotype -615083 phenotype -615084 phenotype -615085 phenotype -615086 gene 283254 HARBI1 ENSG00000180423 -615087 moved/removed -615088 gene 9776 ATG13 ENSG00000175224 -615089 gene 60673 ATG101 ENSG00000123395 -615090 gene 101180976 IFNL4 ENSG00000272395 -615091 phenotype -615092 phenotype -615093 gene 54742 LY6K ENSG00000160886 -615094 gene 283571 PROX2 ENSG00000119608 -615095 phenotype -615096 gene 406999 MIR217 ENSG00000207548 -615097 gene 6540 SLC6A13 ENSG00000010379 -615098 gene 23331 TTC28 ENSG00000100154 -615099 gene 151176 ERFE ENSG00000178752 -615100 gene 55917 CTTNBP2NL ENSG00000143079 -615101 gene 7280 TUBB2A ENSG00000137267 -615102 phenotype -615103 gene 84617 TUBB6 ENSG00000176014 -615104 gene 57701 NCKAP5L ENSG00000167566 -615105 gene 84245 MRI1 ENSG00000037757 -615106 moved/removed -615107 phenotype -615108 phenotype -615109 phenotype -615110 gene 348793 WDR53 ENSG00000185798 -615111 gene 79961 DENND2D ENSG00000162777 -615112 phenotype -615113 phenotype -615114 gene 9658 ZNF516 ENSG00000101493 -615115 gene 80816 ASXL3 ENSG00000141431 -615116 gene 374768 SPEM1 ENSG00000181323 -615117 gene 84281 C2orf88 ENSG00000187699 -615118 moved/removed -615119 phenotype -615120 phenotype -615121 phenotype -615122 phenotype -615123 gene 88455 ANKRD13A ENSG00000076513 -615124 gene 124930 ANKRD13B ENSG00000198720 -615125 gene 81573 ANKRD13C ENSG00000118454 -615126 gene 338692 ANKRD13D ENSG00000172932 -615127 phenotype -615128 gene 201254 CENPX ENSG00000169689 -615129 gene 11227 GALNT5 ENSG00000136542 -615130 gene 63917 GALNT11 ENSG00000178234 -615131 gene 117248 GALNT15 ENSG00000131386 -615132 gene 57452 GALNT16 ENSG00000100626 -615133 gene 168391 GALNTL5 ENSG00000106648 -615134 phenotype -615135 phenotype -615136 gene 374378 GALNT18 ENSG00000110328 -615137 gene 64409 GALNT17 ENSG00000185274 -615138 gene 442117 GALNTL6 ENSG00000174473 -615139 phenotype -615140 gene 113246 C12orf57 ENSG00000111678 -615141 moved/removed -615142 gene 84643 KIF2B ENSG00000141200 -615143 gene 10868 USP20 ENSG00000136878 -615144 gene 203074 PRSS55 ENSG00000184647 -615145 phenotype -615146 gene 23032 USP33 ENSG00000077254 -615147 phenotype -615148 gene 693135 MIR551A ENSG00000207776 -615149 gene 574453 MIR495 ENSG00000207743 -615150 gene 406966 MIR191 ENSG00000207605 -615151 gene 407031 MIR30C1 ENSG00000207962 -615152 gene 23008 KLHDC10 ENSG00000128607 -615153 gene 197259 MLKL ENSG00000168404 -615154 gene 143241 DYDC1 ENSG00000170788 -615155 phenotype -615156 phenotype -615157 phenotype -615158 phenotype -615159 phenotype -615160 phenotype -615161 gene 3120 HLA-DQB2 ENSG00000232629 -615162 phenotype 101409266 -615163 phenotype 101409267 -615164 gene 79647 AKIRIN1 ENSG00000174574 -615165 gene 55122 AKIRIN2 ENSG00000135334 -615166 gene 152100 CMC1 ENSG00000187118 -615167 gene 222229 LRWD1 ENSG00000161036 -615168 gene 155185 AMZ1 ENSG00000174945 -615169 gene 51321 AMZ2 ENSG00000196704 -615170 phenotype -615171 gene 100134040 -615172 gene 51136 RNFT1 ENSG00000189050 -615173 gene 100885779 LINC-ROR ENSG00000258609 -615174 predominantly phenotypes 157739 TDH ENSG00000154316 -615175 gene 83723 TLCD3B ENSG00000149926 -615176 gene 101241892 NPTN-IT1 ENSG00000281183 -615177 gene 55658 RNF126 ENSG00000070423 -615178 gene 79036 KXD1 ENSG00000105700 -615179 phenotype -615180 gene 29090 TIMM21 ENSG00000075336 -615181 phenotype -615182 phenotype -615183 gene 199990 FAAP20 ENSG00000162585 -615184 phenotype -615185 phenotype -615186 gene 57703 CWC22 ENSG00000163510 -615187 gene 27315 PGAP2 ENSG00000148985 -615188 phenotype -615189 gene 79722 ANKRD55 ENSG00000164512 -615190 phenotype -615191 phenotype -615192 phenotype 101448071 -615193 phenotype -615194 gene 10202 DHRS2 ENSG00000100867 -615195 gene 728635 DHRS4L1 -615196 gene 317749 DHRS4L2 ENSG00000187630 -615197 phenotype 101448072 -615198 phenotype -615199 gene 83650 SLC35G5 ENSG00000177710 -615200 gene 79156 PLEKHF1 ENSG00000166289 -615201 gene 100302210 MIR1909 ENSG00000284216 -615202 gene 100302129 MIR1915 ENSG00000222071 -615203 gene 57414 RHBDD2 ENSG00000005486 -615204 gene 84833 ATP5MK ENSG00000173915 -615205 gene 153218 SPINK13 ENSG00000214510 -615206 phenotype -615207 phenotype -615208 gene 79666 PLEKHF2 ENSG00000175895 -615209 gene 406941 MIR149 ENSG00000207611 -615210 gene 57092 PCNP ENSG00000081154 -615211 gene 115426 UHRF2 ENSG00000147854 -615212 gene 126755 LRRC38 ENSG00000162494 -615213 gene 219527 LRRC55 ENSG00000183908 -615214 phenotype -615215 gene 157855 KCNU1 ENSG00000215262 -615216 gene 90990 KIFC2 ENSG00000167702 -615217 phenotype -615218 gene 440699 LRRC52 ENSG00000162763 -615219 phenotype -615220 phenotype -615221 phenotype -615222 phenotype -615223 gene 338376 IFNE ENSG00000184995 -615224 phenotype -615225 phenotype -615226 phenotype -615227 gene 389941 C1QL3 ENSG00000165985 -615228 phenotype -615229 gene 338761 C1QL4 ENSG00000186897 -615230 gene 101515984 LINC01080 -615231 gene 54542 RC3H2 ENSG00000056586 -615232 phenotype -615233 phenotype -615234 phenotype -615235 phenotype -615236 predominantly phenotypes -615237 phenotype -615238 phenotype -615239 gene 407043 MIR7-1 ENSG00000284179 -615240 gene 79047 KCTD15 ENSG00000153885 -615241 gene 257000 TINCR ENSG00000223573 -615242 gene 388588 SMIM1 ENSG00000235169 -615243 gene 245928 DEFB114 ENSG00000177684 -615244 phenotype -615245 gene 768213 MIR671 ENSG00000284191 -615246 gene 79413 ZBED2 ENSG00000177494 -615247 gene 84197 POMK ENSG00000185900 -615248 phenotype -615249 phenotype -615250 gene 84327 ZBED3 ENSG00000132846 -615251 gene 58486 ZBED5 ENSG00000236287 -615252 gene 113763 ZBED10P -615253 gene 63920 ZBED8 ENSG00000221886 -615254 gene 114821 ZBED9 ENSG00000232040 -615255 gene 92342 METTL18 ENSG00000171806 -615256 gene 254013 ETFBKMT ENSG00000139160 -615257 gene 151194 METTL21A ENSG00000144401 -615258 gene 25895 EEF1AKMT3 ENSG00000123427 -615259 gene 196541 METTL21C ENSG00000139780 -615260 gene 79609 VCPKMT ENSG00000100483 -615261 gene 79091 METTL22 ENSG00000067365 -615262 gene 124512 METTL23 ENSG00000181038 -615263 gene 196483 EEF2KMT ENSG00000118894 -615264 phenotype -615265 gene 23360 FNBP4 ENSG00000109920 -615266 phenotype -615267 phenotype -615268 phenotype -615269 phenotype -615270 phenotype -615271 phenotype -615272 phenotype -615273 phenotype -615274 phenotype -615275 gene 730249 ACOD1 ENSG00000102794 -615276 gene 204219 CERS3 ENSG00000154227 -615277 phenotype -615278 phenotype -615279 phenotype -615280 phenotype -615281 phenotype -615282 phenotype -615283 gene 149371 EXOC8 ENSG00000116903 -615284 phenotype -615285 phenotype -615286 phenotype -615287 phenotype -615288 gene 92749 DRC1 ENSG00000157856 -615289 gene 126353 MISP ENSG00000099812 -615290 phenotype -615291 gene 126792 B3GALT6 ENSG00000176022 -615292 gene 63901 FAM111A ENSG00000166801 -615293 phenotype -615294 phenotype -615295 gene 9736 USP34 ENSG00000115464 -615296 gene 84639 IL1F10 ENSG00000136697 -615297 phenotype -615298 phenotype -615299 gene 158046 NXNL2 ENSG00000130045 -615300 phenotype -615301 gene 54867 TMEM214 ENSG00000119777 -615302 gene 113179 ADAT3 ENSG00000213638 -615303 gene 7197 TRG-TCC1-1 -615304 gene 100189416 TRV-CAC3-1 -615305 gene 7231 TRR-ACG1-2 -615306 gene 100189227 TRV-CAC1-6 -615307 gene 100189014 TRV-AAC5-1 -615308 gene 100189161 TRV-AAC4-1 -615309 gene 100189340 TRT-AGT2-2 -615310 gene 100189318 TRV-AAC1-1 -615311 phenotype -615312 phenotype 101926885 -615313 gene 93010 B3GNT7 ENSG00000156966 -615314 phenotype -615315 gene 192134 B3GNT6 ENSG00000198488 -615316 gene 200205 IBA57 ENSG00000181873 -615317 gene 122961 ISCA2 ENSG00000165898 -615318 gene 51522 TMEM14C ENSG00000111843 -615319 gene 55364 IMPACT ENSG00000154059 -615320 gene 29925 GMPPB ENSG00000173540 -615321 gene 54102 CLIC6 ENSG00000159212 -615322 gene 375387 NRROS ENSG00000174004 -615323 gene 9929 JOSD1 ENSG00000100221 -615324 gene 126119 JOSD2 ENSG00000161677 -615325 moved/removed -615326 gene 56832 IFNK ENSG00000147896 -615327 phenotype -615328 phenotype -615329 gene 55770 EXOC2 ENSG00000112685 -615330 phenotype -615331 gene 26145 IRF2BP1 ENSG00000170604 -615332 gene 359948 IRF2BP2 ENSG00000168264 -615333 gene 84002 B3GNT5 ENSG00000176597 -615334 gene 79603 CERS4 ENSG00000090661 -615335 gene 91012 CERS5 ENSG00000139624 -615336 gene 253782 CERS6 ENSG00000172292 -615337 gene 146712 B3GNTL1 ENSG00000175711 -615338 phenotype -615339 gene 29103 DNAJC15 ENSG00000120675 -615340 gene 131377 KLHL40 ENSG00000157119 -615341 gene 284541 CYP4A22 ENSG00000162365 -615342 phenotype -615343 phenotype -615344 phenotype -615345 gene 389827 MYMK ENSG00000187616 -615346 phenotype -615347 gene 54454 ATAD2B ENSG00000119778 -615348 phenotype -615349 phenotype -615350 phenotype -615351 phenotype -615352 phenotype -615353 gene 25901 CCDC28A ENSG00000024862 -615354 gene 55791 LRIF1 ENSG00000121931 -615355 phenotype -615356 phenotype -615357 gene 374907 B3GNT8 ENSG00000177191 -615358 gene 221264 AK9 ENSG00000155085 -615359 gene 54468 MIOS ENSG00000164654 -615360 phenotype -615361 phenotype -615362 phenotype -615363 phenotype -615364 gene 122481 AK7 ENSG00000140057 -615365 gene 158067 AK8 ENSG00000165695 -615366 gene 25926 NOL11 ENSG00000130935 -615367 gene 123803 NTAN1 ENSG00000157045 -615368 phenotype -615369 phenotype -615370 gene 203286 ANKS6 ENSG00000165138 -615371 phenotype -615372 gene 100422991 MIR1260B ENSG00000266192 -615373 phenotype -615374 phenotype -615375 gene 134728 IRAK1BP1 ENSG00000146243 -615376 phenotype -615377 phenotype -615378 phenotype -615379 gene 723778 MIR650 ENSG00000284049 -615380 gene 9870 AREL1 ENSG00000119682 -615381 phenotype -615382 phenotype -615383 gene 63979 FIGNL1 ENSG00000132436 -615384 gene 23514 SPIDR ENSG00000164808 -615385 gene 574436 MIR485 ENSG00000208027 -615386 phenotype -615387 phenotype -615388 gene 134637 ADAT2 ENSG00000189007 -615389 gene 91734 IDI2 ENSG00000148377 -615390 phenotype 102095631 -615391 gene 55853 IDI2-AS1 ENSG00000232656 -615392 gene 57713 SFMBT2 ENSG00000198879 -615393 gene 130916 MTERF4 ENSG00000122085 -615394 gene 387338 NSUN4 ENSG00000117481 -615395 phenotype -615396 phenotype -615397 phenotype -615398 phenotype -615399 phenotype -615400 phenotype -615401 phenotype -615402 phenotype -615403 gene 79228 THOC6 ENSG00000131652 -615404 gene 79853 TM4SF20 ENSG00000168955 -615405 gene 55970 GNG12 ENSG00000172380 -615406 gene 100289178 GNG12-AS1 ENSG00000232284 -615407 gene 23568 ARL2BP ENSG00000102931 -615408 gene 55130 ODAD2 ENSG00000169126 -615409 gene 124045 SPATA33 ENSG00000167523 -615410 gene 112609 MRAP2 ENSG00000135324 -615411 phenotype -615412 phenotype -615413 phenotype -615414 phenotype -615415 phenotype -615416 gene 727857 BHLHA9 ENSG00000205899 -615417 gene 51272 BET1L ENSG00000177951 -615418 phenotype -615419 phenotype -615420 phenotype -615421 gene 201973 PRIMPOL ENSG00000164306 -615422 phenotype -615423 gene 54931 TRMT10C ENSG00000174173 -615424 phenotype -615425 phenotype -615426 phenotype -615427 gene 84173 ELMOD3 ENSG00000115459 -615428 gene 51202 DDX47 ENSG00000213782 -615429 phenotype -615430 gene 85019 TMEM241 ENSG00000134490 -615431 phenotype -615432 phenotype -615433 phenotype -615434 phenotype -615435 gene 30001 ERO1A ENSG00000197930 -615436 phenotype -615437 gene 56605 ERO1B ENSG00000086619 -615438 phenotype -615439 phenotype -615440 phenotype -615441 phenotype -615442 gene -615443 gene -615444 phenotype -615445 gene 28638 TRBC2 ENSG00000211772 -615446 gene -615447 gene 28637 TRBD1 ENSG00000282431 -615448 gene 28636 TRBD2 -615449 gene -615450 gene 6967 TRGC2 ENSG00000227191 -615451 phenotype -615452 gene 101867536 PRNCR1 ENSG00000282961 -615453 phenotype -615454 gene -615455 gene -615456 gene 55531 ELMOD1 ENSG00000110675 -615457 phenotype -615458 phenotype -615459 gene -615460 gene -615461 gene -615462 gene 55112 DYNC2I1 ENSG00000126870 -615463 gene 23334 SZT2 ENSG00000198198 -615464 gene 83479 DDX59 ENSG00000118197 -615465 phenotype -615466 gene 59274 TLNRD1 ENSG00000140406 -615467 gene 80772 CPTP ENSG00000224051 -615468 phenotype -615469 gene 693159 MIR574 ENSG00000207944 -615470 gene 84902 CEP89 ENSG00000121289 -615471 phenotype -615472 gene 22818 COPZ1 ENSG00000111481 -615473 phenotype -615474 phenotype -615475 gene 9704 DHX34 ENSG00000134815 -615476 phenotype -615477 gene 222950 NYAP1 ENSG00000166924 -615478 gene 57624 NYAP2 ENSG00000144460 -615479 gene 23026 MYO16 ENSG00000041515 -615480 gene 101669762 BLACAT1 ENSG00000281406 -615481 phenotype -615482 phenotype -615483 phenotype -615484 gene 79810 PTCD2 ENSG00000049883 -615485 phenotype -615486 phenotype -615487 gene 677815 SNORA2C ENSG00000221491 -615488 gene 54934 KANSL2 ENSG00000139620 -615489 phenotype -615490 phenotype -615491 phenotype -615492 gene -615493 phenotype -615494 gene 56683 CFAP298 ENSG00000159079 -615495 gene 29926 GMPPA ENSG00000144591 -615496 gene 123624 AGBL1 ENSG00000273540 -615497 gene 54471 MIEF1 ENSG00000100335 -615498 gene 125170 MIEF2 ENSG00000177427 -615499 gene 57546 PDP2 ENSG00000172840 -615500 phenotype -615501 phenotype -615502 phenotype -615503 phenotype -615504 phenotype -615505 phenotype -615506 phenotype -615507 gene 11188 NISCH ENSG00000010322 -615508 phenotype -615509 gene 100033819 MIR675 ENSG00000284010 -615510 phenotype -615511 phenotype -615512 phenotype -615513 phenotype -615514 gene 51755 CDK12 ENSG00000167258 -615515 phenotype -615516 phenotype -615517 phenotype -615518 phenotype -615519 gene 146691 TOM1L2 ENSG00000175662 -615520 gene 100126354 MIR297 ENSG00000215961 -615521 gene 246329 STAC3 ENSG00000185482 -615522 phenotype -615523 phenotype -615524 phenotype -615525 gene 22820 COPG1 ENSG00000181789 -615526 gene 51226 COPZ2 ENSG00000005243 -615527 phenotype -615528 phenotype -615529 phenotype -615530 phenotype -615531 gene 84283 TMEM79 ENSG00000163472 -615532 gene 55780 ERMARD ENSG00000130023 -615533 gene 55863 TMEM126B ENSG00000171204 -615534 gene 51300 TIMMDC1 ENSG00000113845 -615535 gene 163183 SYNE4 ENSG00000181392 -615536 gene 389073 C2orf80 ENSG00000188674 -615537 phenotype -615538 phenotype -615539 phenotype -615540 phenotype -615541 phenotype -615542 phenotype -615543 gene 348110 ARPIN ENSG00000242498 -615544 phenotype -615545 phenotype -615546 phenotype -615547 phenotype -615548 phenotype -615549 gene 79798 ARMC5 ENSG00000140691 -615550 phenotype -615551 phenotype -615552 phenotype -615553 phenotype -615554 phenotype -615555 phenotype -615556 gene 79969 ATAT1 ENSG00000137343 -615557 phenotype -615558 phenotype -615559 phenotype -615560 phenotype -615561 phenotype -615562 gene 10615 SPAG5 ENSG00000076382 -615563 gene 340371 NRBP2 ENSG00000185189 -615564 gene 119559 SFXN4 ENSG00000183605 -615565 phenotype -615566 gene 22903 BTBD3 ENSG00000132640 -615567 gene 79934 COQ8B ENSG00000123815 -615568 gene 101669767 SCHLAP1 ENSG00000281131 -615569 gene 94081 SFXN1 ENSG00000164466 -615570 gene 118980 SFXN2 ENSG00000156398 -615571 gene 81855 SFXN3 ENSG00000107819 -615572 gene 94097 SFXN5 ENSG00000144040 -615573 phenotype -615574 phenotype -615575 phenotype -615576 gene 406961 MIR185 ENSG00000208023 -615577 phenotype -615578 phenotype -615579 gene 552889 ATXN7L3B ENSG00000253719 -615580 gene 84436 ZNF528 ENSG00000167555 -615581 gene 100288711 DUX4L9 ENSG00000224807 -615582 phenotype -615583 phenotype -615584 gene 374393 FAM111B ENSG00000189057 -615585 gene 146167 SLC38A8 ENSG00000166558 -615586 gene 84984 CEP19 ENSG00000174007 -615587 gene 23511 NUP188 ENSG00000095319 -615588 gene 91689 SMDT1 ENSG00000183172 -615589 phenotype 102723100 -615590 phenotype -615591 phenotype -615592 phenotype -615593 phenotype -615594 gene 100506013 APELA ENSG00000248329 -615595 phenotype -615596 phenotype -615597 phenotype -615598 phenotype -615599 phenotype -615600 gene 147948 ZNF582 ENSG00000018869 -615601 gene 339896 GADL1 ENSG00000144644 -615602 phenotype -615603 gene 55313 CPPED1 ENSG00000103381 -615604 phenotype -615605 phenotype -615606 gene 79908 BTNL8 ENSG00000113303 -615607 phenotype -615608 gene 64115 VSIR ENSG00000107738 -615609 gene 283514 SIAH3 ENSG00000215475 -615610 gene 222256 CDHR3 ENSG00000128536 -615611 gene 10845 CLPX ENSG00000166855 -615612 phenotype 102775567 -615613 gene 283902 HCCAT5 ENSG00000260880 -615614 gene 253714 MMS22L ENSG00000146263 -615615 phenotype -615616 phenotype -615617 phenotype -615618 gene 56983 POGLUT1 ENSG00000163389 -615619 predominantly phenotypes -615620 gene 11133 KPTN ENSG00000118162 -615622 gene 102659353 THRIL ENSG00000280634 -615623 gene 65260 COA7 ENSG00000162377 -615624 gene 643911 CRNDE ENSG00000245694 -615625 phenotype -615626 gene 84529 CDIN1 ENSG00000186073 -615627 gene 140707 BRI3BP ENSG00000184992 -615628 gene 25798 BRI3 ENSG00000164713 -615629 phenotype -615630 phenotype -615631 phenotype -615632 phenotype -615633 phenotype -615634 gene 84303 CHCHD6 ENSG00000159685 -615635 gene 51663 ZFR ENSG00000056097 -615636 phenotype -615637 phenotype -615638 gene 9918 NCAPD2 ENSG00000010292 -615639 gene 692148 SCARNA10 ENSG00000239002 -615640 gene 677775 SCARNA5 ENSG00000252010 -615641 gene 677772 SCARNA6 ENSG00000251791 -615642 gene 677777 SCARNA12 ENSG00000238795 -615643 phenotype -615644 gene 677767 SCARNA7 ENSG00000238741 -615645 gene 677769 SCARNA17 ENSG00000267322 -615646 gene 677776 SCARNA8 ENSG00000251733 -615647 gene 400629 TEX19 ENSG00000182459 -615648 gene 197358 NLRC3 ENSG00000167984 -615649 phenotype 448962 -615650 gene 26166 RGS22 ENSG00000132554 -615651 phenotype -615652 gene 55856 ACOT13 ENSG00000112304 -615653 gene 284486 THEM5 ENSG00000196407 -615654 phenotype 100359395 -615655 gene 84083 ZRANB3 ENSG00000121988 -615656 phenotype -615657 gene 406934 MIR142 ENSG00000284353 -615658 phenotype -615659 gene 23505 TMEM131 ENSG00000075568 -615660 gene 4736 RPL10A ENSG00000198755 -615661 gene 84306 PDCD2L ENSG00000126249 -615662 gene 89777 SERPINB12 ENSG00000166634 -615663 phenotype -615664 gene 9840 TESPA1 ENSG00000135426 -615665 phenotype -615666 gene 57604 TRMT9B ENSG00000250305 -615667 gene 375748 ERCC6L2 ENSG00000182150 -615668 phenotype -615669 gene 133418 EMB ENSG00000170571 -615670 phenotype -615671 gene 84193 SETD3 ENSG00000183576 -615672 gene 574456 MIR497 ENSG00000284027 -615673 phenotype -615674 phenotype 102997065 -615675 gene 407027 MIR301A ENSG00000207996 -615676 gene 732253 TDRG1 ENSG00000204091 -615677 gene 327657 SERPINA9 ENSG00000170054 -615678 gene 83699 SH3BGRL2 ENSG00000198478 -615679 gene 83442 SH3BGRL3 ENSG00000142669 -615680 gene 114769 CARD16 ENSG00000204397 -615681 phenotype -615682 gene 89778 SERPINB11 ENSG00000206072 -615683 phenotype -615684 gene 164045 HFM1 ENSG00000162669 -615685 phenotype -615686 phenotype -615687 gene 441925 BECN2 ENSG00000196289 -615688 phenotype -615689 gene 57463 AMIGO1 ENSG00000181754 -615690 gene 347902 AMIGO2 ENSG00000139211 -615691 gene 386724 AMIGO3 ENSG00000176020 -615692 gene 66005 CHID1 ENSG00000177830 -615693 gene 399948 COLCA1 ENSG00000196167 -615694 gene 120376 COLCA2 ENSG00000214290 -615695 gene 124790 HEXIM2 ENSG00000168517 -615696 phenotype -615697 phenotype 103106902 -615698 gene 23646 PLD3 ENSG00000105223 -615699 gene 65998 ZFTA ENSG00000188070 -615700 gene 260434 PYDC1 ENSG00000169900 -615701 gene 152138 PYDC2 ENSG00000253548 -615702 gene 390195 OR5AN1 ENSG00000176495 -615703 phenotype -615704 phenotype -615705 phenotype -615706 phenotype -615707 phenotype -615708 gene 26036 ZNF451 ENSG00000112200 -615709 phenotype -615710 phenotype -615711 predominantly phenotypes -615712 gene 90268 OTULIN ENSG00000154124 -615713 gene 23613 ZMYND8 ENSG00000101040 -615714 gene 80862 ZNRD1ASP ENSG00000204623 -615715 phenotype -615716 phenotype -615717 gene 359710 BPIFB3 ENSG00000186190 -615718 gene 149954 BPIFB4 ENSG00000186191 -615719 gene 100507043 TUNAR ENSG00000250366 -615720 gene 57709 SLC7A14 ENSG00000013293 -615721 phenotype -615722 phenotype -615723 phenotype -615724 phenotype -615725 phenotype -615726 phenotype -615727 gene 553128 KIR2DL5B -615728 phenotype -615729 gene 22904 SBNO2 ENSG00000064932 -615730 gene 85440 DOCK7 ENSG00000116641 -615731 phenotype -615732 gene 55695 NSUN5 ENSG00000130305 -615733 gene 114049 BUD23 ENSG00000071462 -615734 gene 22911 WDR47 ENSG00000085433 -615735 phenotype -615736 gene 641700 ECSCR ENSG00000249751 -615737 gene 390243 IZUMO1R ENSG00000183560 -615738 gene 738 VPS51 ENSG00000149823 -615739 gene 5462 POU5F1B ENSG00000212993 -615740 gene 9779 TBC1D5 ENSG00000131374 -615741 gene 9812 DELE1 ENSG00000081791 -615742 gene 9827 RGP1 ENSG00000107185 -615743 gene 55209 SETD5 ENSG00000168137 -615744 phenotype -615745 phenotype -615746 gene 79364 ZXDC ENSG00000070476 -615747 gene 1088 CEACAM8 ENSG00000124469 -615748 gene 23325 WASHC4 ENSG00000136051 -615749 phenotype -615750 phenotype -615751 phenotype -615752 phenotype -615753 gene 9883 POM121 ENSG00000196313 -615754 gene 100101267 POM121C ENSG00000272391 -615755 gene 283150 FOXR1 ENSG00000176302 -615756 gene 9728 SECISBP2L ENSG00000138593 -615757 gene 55857 KIZ ENSG00000088970 -615758 phenotype -615759 gene 57498 KIDINS220 ENSG00000134313 -615760 phenotype -615761 phenotype -615762 gene 643226 GRXCR2 ENSG00000204928 -615763 phenotype -615764 gene 101234261 LSINCT5 ENSG00000281560 -615765 gene 162515 SLC16A11 ENSG00000174326 -615766 gene 23255 MTCL1 ENSG00000168502 -615767 phenotype -615768 phenotype -615769 gene 26049 FAM169A ENSG00000198780 -615770 phenotype -615771 phenotype -615772 gene 645638 WFDC21P ENSG00000261040 -615773 gene 57001 SDHAF3 ENSG00000196636 -615774 phenotype -615775 gene 644186 SYCE3 ENSG00000217442 -615776 gene 9696 CROCC ENSG00000058453 -615777 phenotype -615778 gene 24146 CLDN15 ENSG00000106404 -615779 phenotype -615780 phenotype -615781 gene 130340 AP1S3 ENSG00000152056 -615782 gene 148523 CIART ENSG00000159208 -615783 gene 375607 NAT16 ENSG00000167011 -615784 gene 2882 GPX7 ENSG00000116157 -615785 phenotype -615786 gene 138151 NACC2 ENSG00000148411 -615787 gene 133686 NADK2 ENSG00000152620 -615788 gene 10443 N4BP2L2 ENSG00000244754 -615789 phenotype -615790 gene 27245 AHDC1 ENSG00000126705 -615791 gene 79873 NUDT18 ENSG00000275074 -615792 gene 55270 NUDT15 ENSG00000136159 -615793 gene 140862 ISM1 ENSG00000101230 -615794 gene 22862 FNDC3A ENSG00000102531 -615795 gene 161835 FSIP1 ENSG00000150667 -615796 gene 401024 FSIP2 ENSG00000188738 -615797 gene 10255 HCG9 ENSG00000204625 -615798 gene 9074 CLDN6 ENSG00000184697 -615799 gene 9080 CLDN9 ENSG00000213937 -615800 gene 29999 FSCN3 ENSG00000106328 -615801 moved/removed -615802 phenotype -615803 phenotype -615804 gene 646625 URAD ENSG00000183463 -615805 gene 100130015 URAHP ENSG00000222019 -615806 gene 121260 SLC15A4 ENSG00000139370 -615807 phenotype -615808 gene 51372 TMA7 ENSG00000232112 -615809 phenotype -615810 gene 28970 C11orf54 ENSG00000182919 -615811 gene 53938 PPIL3 ENSG00000240344 -615812 phenotype -615813 gene 54540 FAM193B ENSG00000146067 -615814 gene 6815 STYX ENSG00000198252 -615815 gene 100507392 SENCR ENSG00000254703 -615816 phenotype -615817 phenotype -615818 gene 23378 RRP8 ENSG00000132275 -615819 gene 445329 SULT1A4 ENSG00000213648 -615820 gene 50717 DCAF8 ENSG00000132716 -615821 phenotype -615822 gene 548593 SLX1A ENSG00000132207 -615823 gene 79008 SLX1B ENSG00000181625 -615824 phenotype -615825 gene 56241 SUSD2 ENSG00000099994 -615826 gene 90529 STPG1 ENSG00000001460 -615827 gene 55061 SUSD4 ENSG00000143502 -615828 phenotype -615829 phenotype -615830 phenotype -615831 gene 90624 LYRM7 ENSG00000186687 -615832 gene 134111 UBE2QL1 ENSG00000215218 -615833 phenotype -615834 phenotype -615835 phenotype -615836 gene 23012 STK38L ENSG00000211455 -615837 phenotype -615838 phenotype -615839 gene 26063 DECR2 ENSG00000242612 -615840 gene 79077 DCTPP1 ENSG00000179958 -615841 phenotype -615842 phenotype -615843 gene 8560 DEGS1 ENSG00000143753 -615844 gene 26007 TKFC ENSG00000149476 -615845 gene 406965 MIR190A ENSG00000211137 -615846 phenotype -615847 gene 51134 CEP83 ENSG00000173588 -615848 phenotype -615849 phenotype -615850 gene 55275 VPS53 ENSG00000141252 -615851 phenotype -615852 gene 51560 RAB6B ENSG00000154917 -615853 gene 196743 PAOX ENSG00000148832 -615854 gene 54498 SMOX ENSG00000088826 -615855 gene 83857 TMTC1 ENSG00000133687 -615856 gene 160335 TMTC2 ENSG00000179104 -615857 gene 55239 OGFOD1 ENSG00000087263 -615858 gene 54665 RSBN1 ENSG00000081019 -615859 phenotype -615860 phenotype -615861 phenotype -615862 phenotype -615863 phenotype -615864 gene 79598 CEP97 ENSG00000182504 -615865 gene 84461 NEURL4 ENSG00000215041 -615866 phenotype -615867 gene 221322 TBC1D32 ENSG00000146350 -615868 gene 404203 SPINK6 ENSG00000178172 -615869 gene 126282 TNFAIP8L1 ENSG00000185361 -615870 gene 11020 IFT27 ENSG00000100360 -615871 phenotype -615872 phenotype -615873 phenotype -615874 gene 26156 RSL1D1 ENSG00000171490 -615875 gene 25950 RWDD3 ENSG00000122481 -615876 gene 83861 RSPH3 ENSG00000130363 -615877 phenotype -615878 phenotype -615879 phenotype -615880 gene 80728 ARHGAP39 ENSG00000147799 -615881 phenotype -615882 gene 23637 RABGAP1 ENSG00000011454 -615883 phenotype -615884 gene 57136 APMAP ENSG00000101474 -615885 phenotype -615886 gene 644815 FAM83G ENSG00000188522 -615887 phenotype -615888 phenotype -615889 phenotype -615890 gene 51143 DYNC1LI1 ENSG00000144635 -615891 gene 339487 ZBTB8OS ENSG00000176261 -615892 phenotype 103581096 -615893 gene 54492 NEURL1B ENSG00000214357 -615894 gene 55628 ZNF407 ENSG00000215421 -615895 phenotype -615896 phenotype -615897 phenotype -615898 gene 55471 NDUFAF7 ENSG00000003509 -615899 gene 169611 OLFML2A ENSG00000185585 -615900 gene 60509 AGBL5 ENSG00000084693 -615901 gene 342897 NCCRP1 ENSG00000188505 -615902 gene 55012 PPP2R3C ENSG00000092020 -615903 gene 400916 CHCHD10 ENSG00000250479 -615904 gene 137902 PXDNL ENSG00000147485 -615905 phenotype -615906 gene 79596 OBI1 ENSG00000152193 -615907 phenotype -615908 gene 574476 MIR520C ENSG00000207738 -615909 phenotype -615910 gene 55739 NAXD ENSG00000213995 -615911 phenotype -615912 gene 79807 GSTCD ENSG00000138780 -615913 gene 135293 PM20D2 ENSG00000146281 -615914 gene 55602 CDKN2AIP ENSG00000168564 -615915 gene 131368 ZPLD1 ENSG00000170044 -615916 phenotype -615917 phenotype -615918 phenotype -615919 phenotype -615920 gene 55771 PRR11 ENSG00000068489 -615921 gene 84808 PERM1 ENSG00000187642 -615922 phenotype -615923 phenotype -615924 phenotype -615925 phenotype -615926 phenotype -615927 gene 144347 RFLNA ENSG00000178882 -615928 gene 359845 RFLNB ENSG00000183688 -615929 gene 26057 ANKRD17 ENSG00000132466 -615930 gene 100526820 CAHM ENSG00000270419 -615931 gene 51334 PRR16 ENSG00000184838 -615932 gene 222658 KCTD20 ENSG00000112078 -615933 gene 84280 BTBD10 ENSG00000148925 -615934 phenotype -615935 phenotype -615936 gene 143872 ARHGAP42 ENSG00000165895 -615937 phenotype -615938 phenotype -615939 gene 201562 HACD2 ENSG00000206527 -615940 gene 51495 HACD3 ENSG00000074696 -615941 gene 401494 HACD4 ENSG00000188921 -615942 phenotype -615943 gene 260425 MAGI3 ENSG00000081026 -615944 gene 26005 C2CD3 ENSG00000168014 -615945 phenotype -615946 phenotype -615947 phenotype -615948 phenotype -615949 gene 26022 TMEM98 ENSG00000006042 -615950 gene 10290 SPEG ENSG00000072195 -615951 gene 57688 ZSWIM6 ENSG00000130449 -615952 phenotype -615953 phenotype -615954 phenotype -615955 gene 84960 CCDC183 ENSG00000213213 -615956 gene 115948 ODAD3 ENSG00000198003 -615957 phenotype -615958 gene 128710 SLX4IP ENSG00000149346 -615959 phenotype -615960 phenotype -615961 phenotype -615962 phenotype -615963 phenotype -615964 gene 388815 MIR99AHG ENSG00000215386 -615965 gene 399959 MIR100HG ENSG00000255248 -615966 phenotype -615967 gene 54905 CYP2W1 ENSG00000073067 -615968 gene 103752554 MYCNUT ENSG00000223850 -615969 phenotype -615970 phenotype -615971 moved/removed -615972 phenotype -615973 phenotype -615974 phenotype -615975 gene 92305 TMEM129 ENSG00000168936 -615976 gene 101927703 FOXCUT -615977 gene 442907 MIR339 ENSG00000199023 -615978 phenotype -615979 phenotype -615980 phenotype -615981 phenotype -615982 phenotype -615983 phenotype -615984 phenotype -615985 phenotype -615986 phenotype -615987 phenotype -615988 phenotype -615989 phenotype -615990 phenotype -615991 phenotype -615992 phenotype -615993 phenotype -615994 phenotype -615995 phenotype -615996 phenotype -615997 gene 245932 DEFB119 ENSG00000180483 -615998 gene 9921 RNF10 ENSG00000022840 -615999 phenotype -616000 phenotype -616001 phenotype -616002 phenotype -616003 gene 84334 COA8 ENSG00000256053 -616004 phenotype -616005 phenotype -616006 phenotype -616007 phenotype -616008 gene 51138 COPS4 ENSG00000138663 -616009 gene 50813 COPS7A ENSG00000111652 -616010 gene 64708 COPS7B ENSG00000144524 -616011 gene 10920 COPS8 ENSG00000198612 -616012 gene 84522 JAGN1 ENSG00000171135 -616013 gene 93587 TRMT10A ENSG00000145331 -616014 gene 64320 RNF25 ENSG00000163481 -616015 gene 285671 RNF180 ENSG00000164197 -616016 gene 57460 PPM1H ENSG00000111110 -616017 gene 140691 TRIM69 ENSG00000185880 -616018 moved/removed -616019 gene 283248 RCOR2 ENSG00000167771 -616020 gene 116159 CYYR1 ENSG00000166265 -616021 gene 100996571 CYYR1-AS1 ENSG00000197934 -616022 phenotype -616023 gene 57466 SCAF4 ENSG00000156304 -616024 gene 22828 SCAF8 ENSG00000213079 -616025 phenotype -616026 phenotype -616027 gene 54443 ANLN ENSG00000011426 -616028 phenotype -616029 phenotype -616030 phenotype -616031 gene 285025 CCDC141 ENSG00000163492 -616032 phenotype -616033 phenotype -616034 phenotype -616035 gene 22887 FOXJ3 ENSG00000198815 -616036 gene 574452 MIR494 ENSG00000194717 -616037 phenotype -616038 phenotype -616039 phenotype -616040 phenotype -616041 gene 100131187 TSTD1 ENSG00000215845 -616042 phenotype -616043 gene 100750225 PCAT1 ENSG00000253438 -616044 phenotype -616045 phenotype -616046 gene 9050 PSTPIP2 ENSG00000152229 -616047 gene 57587 CFAP97 ENSG00000164323 -616048 gene 100505854 APTR ENSG00000214293 -616049 gene 10953 TOMM34 ENSG00000025772 -616050 phenotype -616051 phenotype -616052 phenotype -616053 phenotype -616054 gene 55250 ELP2 ENSG00000134759 -616055 phenotype 104326187 -616056 phenotype -616057 gene 285194 TUSC7 ENSG00000243197 -616058 gene 100507308 TARID ENSG00000227954 -616059 phenotype -616060 phenotype -616061 gene 23269 MGA ENSG00000174197 -616062 gene 23141 ANKLE2 ENSG00000176915 -616063 phenotype -616064 gene 64129 TINAGL1 ENSG00000142910 -616065 gene 196500 PIANP ENSG00000139200 -616066 gene 54937 SOHLH2 ENSG00000120669 -616067 phenotype -616068 gene 285943 HOXA-AS2 -616069 phenotype -616070 gene 29070 CCDC113 ENSG00000103021 -616071 gene 136895 C7orf31 ENSG00000153790 -616072 gene 50809 HP1BP3 ENSG00000127483 -616073 gene 55789 DEPDC1B ENSG00000035499 -616074 gene 51192 CKLF ENSG00000217555 -616075 gene 245934 DEFB121 ENSG00000204548 -616076 gene 245936 DEFB123 ENSG00000180424 -616077 gene 245935 DEFB122 ENSG00000204547 -616078 phenotype -616079 phenotype -616080 phenotype -616081 phenotype -616082 gene 57102 C12orf4 ENSG00000047621 -616083 phenotype -616084 phenotype -616085 gene 7587 ZNF37A ENSG00000075407 -616086 gene 83932 SPRTN ENSG00000010072 -616087 phenotype -616088 gene 440712 RHEX ENSG00000263961 -616089 phenotype -616090 gene 768219 MIR802 ENSG00000211590 -616091 gene 64745 METTL17 ENSG00000165792 -616092 gene 100874054 FALEC ENSG00000228126 -616093 phenotype -616094 phenotype -616095 phenotype -616096 gene 104564225 MHRT -616097 gene 790955 UQCC3 ENSG00000204922 -616098 phenotype -616099 phenotype -616100 phenotype -616101 gene 339453 TMEM240 ENSG00000205090 -616102 gene 54495 TMX3 ENSG00000166479 -616103 gene 26103 LRIT1 ENSG00000148602 -616104 gene 11317 RBPJL ENSG00000124232 -616105 gene 57231 SNX14 ENSG00000135317 -616106 phenotype -616107 gene 84188 FAR1 ENSG00000197601 -616108 phenotype -616109 gene 79703 C11orf80 ENSG00000173715 -616110 gene 23220 DTX4 ENSG00000110042 -616111 phenotype -616112 gene 56203 LMOD3 ENSG00000163380 -616113 phenotype -616114 gene 84181 CHD6 ENSG00000124177 -616115 phenotype -616116 phenotype -616117 phenotype -616118 phenotype -616119 gene 257177 CFAP126 ENSG00000188931 -616120 gene 55280 CWF19L1 ENSG00000095485 -616121 predominantly phenotypes 387751 GVINP1 ENSG00000254838 -616122 gene 85002 FAM86B1 ENSG00000186523 -616123 gene 653333 FAM86B2 ENSG00000145002 -616124 gene 55199 FAM86C1P ENSG00000158483 -616125 gene 90826 PRMT9 ENSG00000164169 -616126 phenotype -616127 phenotype -616128 gene 23625 FAM89B ENSG00000176973 -616129 gene 541468 LURAP1 ENSG00000171357 -616130 gene 286343 LURAP1L ENSG00000153714 -616131 gene 100287082 GACAT2 ENSG00000265962 -616132 gene 104797537 GACAT3 ENSG00000236289 -616133 gene 84769 MPV17L2 ENSG00000254858 -616134 gene 440093 H3-5 ENSG00000188375 -616135 gene 24138 IFIT5 ENSG00000152778 -616136 gene 55182 RNF220 ENSG00000187147 -616137 gene 100126316 MIR873 ENSG00000215939 -616138 phenotype -616139 phenotype -616140 phenotype -616141 gene 55506 MACROH2A2 ENSG00000099284 -616142 gene 283742 FAM98B ENSG00000171262 -616143 gene 11313 LYPLA2 ENSG00000011009 -616144 gene 84942 WDR73 ENSG00000177082 -616145 phenotype -616146 gene 23483 TGDS ENSG00000088451 -616147 gene 65061 CDK15 ENSG00000138395 -616148 gene 286827 TRIM59 ENSG00000213186 -616149 gene 55186 SLC25A36 ENSG00000114120 -616150 gene 153328 SLC25A48 ENSG00000145832 -616151 phenotype -616152 phenotype -616153 gene 147407 SLC25A52 ENSG00000141437 -616154 phenotype -616155 phenotype -616156 gene 55711 FAR2 ENSG00000064763 -616157 gene 147015 DHRS13 ENSG00000167536 -616158 phenotype -616159 gene 79154 DHRS11 ENSG00000278535 -616160 gene 25979 DHRS7B ENSG00000109016 -616161 gene 201140 DHRS7C ENSG00000184544 -616162 gene 56948 SDR39U1 ENSG00000100445 -616163 gene 79758 DHRS12 ENSG00000102796 -616164 gene 93517 SDR42E1 ENSG00000184860 -616165 phenotype -616166 phenotype -616167 gene 123879 DCUN1D3 ENSG00000188215 -616168 gene 100188893 TOMM6 ENSG00000214736 -616169 gene 401505 TOMM5 ENSG00000175768 -616170 phenotype -616171 phenotype -616172 phenotype -616173 gene 84081 NSRP1 ENSG00000126653 -616174 gene 150468 CKAP2L ENSG00000169607 -616175 gene 51465 UBE2J1 ENSG00000198833 -616176 phenotype -616177 gene 65992 DDRGK1 ENSG00000198171 -616178 gene 124842 TMEM132E ENSG00000181291 -616179 gene 57544 TXNDC16 ENSG00000087301 -616180 gene 23015 GOLGA8A ENSG00000175265 -616181 gene 349075 ZNF713 ENSG00000178665 -616182 phenotype 105180377 -616183 gene 84314 TMEM107 ENSG00000179029 -616184 gene 23277 CLUH ENSG00000132361 -616185 phenotype -616186 gene 105259599 -616187 phenotype -616188 phenotype -616189 gene 23070 CMTR1 ENSG00000137200 -616190 gene 55783 CMTR2 ENSG00000180917 -616191 gene 22839 DLGAP4 ENSG00000080845 -616192 phenotype -616193 phenotype -616194 gene 84135 UTP15 ENSG00000164338 -616195 gene 23160 WDR43 ENSG00000163811 -616196 gene 25879 DCAF13 ENSG00000164934 -616197 gene 79954 NOL10 ENSG00000115761 -616198 phenotype -616199 phenotype -616200 phenotype -616201 phenotype -616202 phenotype -616203 gene 153129 SLC38A9 ENSG00000177058 -616204 phenotype -616205 gene 693233 MIR648 ENSG00000207780 -616206 gene 729177 NBAT1 -616207 gene 100506668 NRAV ENSG00000248008 -616208 phenotype -616209 phenotype -616210 gene 201725 C4orf46 ENSG00000205208 -616211 phenotype -616212 phenotype -616213 gene 23036 ZNF292 ENSG00000188994 -616214 phenotype -616215 gene 90993 CREB3L1 ENSG00000157613 -616216 phenotype -616217 phenotype -616218 gene 54662 TBC1D13 ENSG00000107021 -616219 phenotype -616220 phenotype -616221 phenotype -616222 phenotype -616223 gene 55908 ANGPTL8 ENSG00000130173 -616224 phenotype -616225 gene 23130 ATG2A ENSG00000110046 -616226 gene 55102 ATG2B ENSG00000066739 -616227 phenotype -616228 phenotype -616229 phenotype -616230 phenotype -616231 phenotype -616232 gene 728637 MEIKIN ENSG00000239642 -616233 moved/removed -616234 gene 80304 WDCP ENSG00000163026 -616235 gene 79768 KATNBL1 ENSG00000134152 -616236 gene 150356 CHADL ENSG00000100399 -616237 gene 85442 KNDC1 ENSG00000171798 -616238 gene 166793 ZBTB49 ENSG00000168826 -616239 phenotype -616240 gene 90271 OLMALINC ENSG00000235823 -616241 gene 284207 METRNL ENSG00000176845 -616242 gene 23023 TMCC1 ENSG00000172765 -616243 gene 23240 TMEM131L ENSG00000121210 -616244 gene 51142 CHCHD2 ENSG00000106153 -616245 gene 51234 EMC4 ENSG00000128463 -616246 gene 100507027 MRLN ENSG00000227877 -616247 phenotype -616248 phenotype -616249 phenotype -616250 gene 284434 NWD1 ENSG00000188039 -616251 gene 9747 TCAF1 ENSG00000198420 -616252 gene 285966 TCAF2 ENSG00000170379 -616253 gene 170825 GSX2 ENSG00000180613 -616254 gene 81570 CLPB ENSG00000162129 -616255 phenotype -616256 gene 339390 CLEC4G ENSG00000182566 -616257 gene 11328 FKBP9 ENSG00000122642 -616258 phenotype -616259 gene 104472715 SNHG14 -616260 phenotype -616261 gene 54517 PUS7 ENSG00000091127 -616262 gene 9903 KLHL21 ENSG00000162413 -616263 phenotype -616264 gene 102467146 MAFTRR ENSG00000261390 -616265 phenotype -616266 phenotype -616267 phenotype -616268 phenotype -616269 phenotype -616270 phenotype -616271 phenotype -616272 gene 574484 MIR520G ENSG00000207799 -616273 gene 104472713 PCAT29 ENSG00000245750 -616274 gene 100423042 MIR4276 ENSG00000265846 -616275 gene 84908 FAM136A ENSG00000035141 -616276 phenotype -616277 phenotype -616278 phenotype -616279 phenotype -616280 phenotype -616281 phenotype -616282 phenotype -616283 gene 83480 PUS3 ENSG00000110060 -616284 gene 388698 FLG2 ENSG00000143520 -616285 gene 114793 FMNL2 ENSG00000157827 -616286 phenotype -616287 phenotype -616288 gene 91010 FMNL3 ENSG00000161791 -616289 phenotype -616290 gene 26149 ZNF658 ENSG00000274349 -616291 phenotype -616292 gene 158297 SAXO1 ENSG00000155875 -616293 gene 388697 HRNR ENSG00000197915 -616294 phenotype -616295 phenotype -616296 gene 79772 MCTP1 ENSG00000175471 -616297 gene 55784 MCTP2 ENSG00000140563 -616298 phenotype -616299 phenotype -616300 phenotype -616301 gene 100131439 CD300LD ENSG00000204345 -616302 gene 221937 FOXK1 ENSG00000164916 -616303 gene 29062 WDR91 ENSG00000105875 -616304 phenotype -616305 gene 55691 FRMD4A ENSG00000151474 -616306 gene 100861412 FSBP ENSG00000265817 -616307 phenotype -616308 gene 103344929 BGLT3 ENSG00000260629 -616309 gene 84978 FRMD5 ENSG00000171877 -616310 gene 89839 ARHGAP11B ENSG00000284906 -616311 phenotype -616312 gene 221496 LEMD2 ENSG00000161904 -616313 phenotype -616314 phenotype -616315 gene 286257 PAXX ENSG00000148362 -616316 gene 23201 FAM168A ENSG00000054965 -616317 gene 284161 GDPD1 ENSG00000153982 -616318 gene 79153 GDPD3 ENSG00000102886 -616319 gene 51444 RNF138 ENSG00000134758 -616320 gene 81889 FAHD1 ENSG00000180185 -616321 phenotype -616322 phenotype -616323 phenotype -616324 phenotype -616325 phenotype -616326 phenotype -616327 gene 283489 CHAMP1 ENSG00000198824 -616328 gene 105447646 -616329 phenotype -616330 phenotype -616331 phenotype -616332 gene 79624 ARMT1 ENSG00000146476 -616333 gene 105664404 WSPAR ENSG00000249073 -616334 gene 55273 TMEM100 ENSG00000166292 -616335 phenotype -616336 gene 441282 AKR1B15 ENSG00000227471 -616337 gene 122809 SOCS4 ENSG00000180008 -616338 gene 347689 SOX2-OT ENSG00000242808 -616339 phenotype -616340 phenotype -616341 phenotype -616342 phenotype -616343 gene 102800311 TP53COR1 -616344 gene 153657 TTC23L ENSG00000205838 -616345 phenotype -616346 phenotype -616347 gene 56981 PRDM11 ENSG00000019485 -616348 gene 57116 ZNF695 ENSG00000197472 -616349 gene 8470 SORBS2 ENSG00000154556 -616350 gene 100630918 PARTICL ENSG00000286532 -616351 phenotype -616352 gene 84320 ACBD6 ENSG00000230124 -616353 phenotype -616354 phenotype -616355 phenotype -616356 gene 554202 MIR31HG ENSG00000171889 -616357 phenotype -616358 gene 494328 MIR379 ENSG00000199088 -616359 gene 84274 COQ5 ENSG00000110871 -616360 gene 65084 TMEM135 ENSG00000166575 -616361 phenotype 108353827 -616362 phenotype -616363 gene 163778 SPRR4 ENSG00000184148 -616364 phenotype -616365 gene 55681 SCYL2 ENSG00000136021 -616366 phenotype -616367 phenotype -616368 phenotype -616369 moved/removed -616370 phenotype -616371 phenotype -616372 gene 26094 DCAF4 ENSG00000119599 -616373 phenotype -616374 gene 57673 BEND3 ENSG00000178409 -616375 gene 85451 UNK ENSG00000132478 -616376 gene 724026 MIR656 ENSG00000207959 -616377 gene 58510 PRODH2 ENSG00000250799 -616378 gene 51035 UBXN1 ENSG00000162191 -616379 gene 26043 UBXN7 ENSG00000163960 -616380 gene 22798 LAMB4 ENSG00000091128 -616381 gene 55596 ZCCHC8 ENSG00000033030 -616382 gene 79799 UGT2A3 ENSG00000135220 -616383 gene 133688 UGT3A1 ENSG00000145626 -616384 gene 167127 UGT3A2 ENSG00000168671 -616385 gene 255167 LINC01018 ENSG00000250056 -616386 gene 79734 KCTD17 ENSG00000100379 -616387 gene 145837 DRAIC ENSG00000245750 -616388 gene 80019 UBTD1 ENSG00000165886 -616389 phenotype -616390 phenotype -616391 gene 202151 RANBP3L ENSG00000164188 -616392 predominantly phenotypes 391037 SKINT1L -616393 phenotype -616394 phenotype -616395 phenotype -616396 gene 22955 SCMH1 ENSG00000010803 -616397 gene 11264 PXMP4 ENSG00000101417 -616398 phenotype -616399 phenotype -616400 phenotype -616401 gene 54908 SPDL1 ENSG00000040275 -616402 phenotype -616403 gene 11257 TP53TG1 ENSG00000182165 -616404 gene 25885 POLR1A ENSG00000068654 -616405 gene 22848 AAK1 ENSG00000115977 -616406 gene 29920 PYCR2 ENSG00000143811 -616407 phenotype -616408 gene 65263 PYCR3 ENSG00000104524 -616409 phenotype -616410 phenotype -616411 phenotype -616412 gene 81567 TXNDC5 ENSG00000239264 -616413 phenotype -616414 phenotype -616415 phenotype -616416 gene 22859 ADGRL1 ENSG00000072071 -616417 gene 23284 ADGRL3 ENSG00000150471 -616418 phenotype -616419 gene 64123 ADGRL4 ENSG00000162618 -616420 phenotype -616421 phenotype -616422 gene 79736 TEFM ENSG00000172171 -616423 gene 22907 DHX30 ENSG00000132153 -616424 gene 79918 SETD6 ENSG00000103037 -616425 phenotype -616426 gene 55125 CEP192 ENSG00000101639 -616427 gene 642597 AKAIN1 ENSG00000231824 -616428 phenotype -616429 gene 203328 SUSD3 ENSG00000157303 -616430 phenotype -616431 gene 150763 GPAT2 ENSG00000186281 -616432 gene 23370 ARHGEF18 ENSG00000104880 -616433 phenotype -616434 gene 9798 IST1 ENSG00000182149 -616435 phenotype -616436 phenotype -616437 phenotype -616438 gene 388121 TNFAIP8L3 ENSG00000183578 -616439 phenotype -616440 gene 140679 SLC32A1 ENSG00000101438 -616441 gene 58495 OVOL2 ENSG00000125850 -616442 gene 728361 OVOL3 ENSG00000105261 -616443 gene 9205 ZMYM5 ENSG00000132950 -616444 gene 9904 RBM19 ENSG00000122965 -616445 phenotype -616446 gene 163747 LEXM ENSG00000162398 -616447 gene 25962 VIRMA ENSG00000164944 -616448 gene 201475 RAB12 ENSG00000206418 -616449 phenotype -616450 gene 79180 EFHD2 ENSG00000142634 -616451 phenotype -616452 phenotype -616453 gene 23091 ZC3H13 ENSG00000123200 -616454 gene 79797 ZNF408 ENSG00000175213 -616455 phenotype -616456 gene 83444 INO80B ENSG00000115274 -616457 phenotype -616458 gene 59335 PRDM12 ENSG00000130711 -616459 phenotype -616460 phenotype -616461 phenotype -616462 phenotype -616463 gene 7775 ZNF232 ENSG00000167840 -616464 gene 11319 ECD ENSG00000122882 -616465 gene 55610 VPS50 ENSG00000004766 -616466 gene 137970 UNC5D ENSG00000156687 -616467 gene 25911 DPCD ENSG00000166171 -616468 phenotype -616469 phenotype -616470 phenotype -616471 phenotype -616472 gene 9898 UBAP2L ENSG00000143569 -616473 gene 693143 MIR558 ENSG00000207653 -616474 gene 7741 ZSCAN26 ENSG00000197062 -616475 gene 55722 CEP72 ENSG00000112877 -616476 gene 84871 AGBL4 ENSG00000186094 -616477 gene 29982 NRBF2 ENSG00000148572 -616478 gene 136332 LRGUK ENSG00000155530 -616479 phenotype -616480 gene 57536 KIAA1328 ENSG00000150477 -616481 phenotype -616482 phenotype -616483 phenotype -616484 gene 30851 TAX1BP3 ENSG00000213977 -616485 gene 49854 ZBTB21 ENSG00000173276 -616486 phenotype -616487 phenotype -616488 phenotype -616489 phenotype -616490 phenotype -616491 phenotype -616492 gene 283673 EWSAT1 ENSG00000212766 -616493 gene 23272 TASOR ENSG00000163946 -616494 phenotype -616495 gene 151188 ARL6IP6 ENSG00000177917 -616496 gene 23306 NEMP1 ENSG00000166881 -616497 gene 100131211 NEMP2 ENSG00000189362 -616498 gene 162427 RETREG3 ENSG00000141699 -616499 gene 94107 TMEM203 ENSG00000187713 -616500 phenotype -616501 phenotype -616502 phenotype -616503 phenotype -616504 gene 57721 METTL14 ENSG00000145388 -616505 phenotype -616506 gene 79625 NDNF ENSG00000173376 -616507 phenotype -616508 gene 201266 SLC39A11 ENSG00000133195 -616509 phenotype -616510 gene 64841 GNPNAT1 ENSG00000100522 -616511 phenotype -616512 gene 220441 RNF152 ENSG00000176641 -616513 gene 23185 LARP4B ENSG00000107929 -616514 gene 348262 MCRIP1 ENSG00000225663 -616515 phenotype -616516 phenotype -616517 phenotype -616518 gene 145389 SLC38A6 ENSG00000139974 -616519 gene 201626 PDE12 ENSG00000174840 -616520 gene 23382 AHCYL2 ENSG00000158467 -616521 phenotype -616522 gene 84259 DCUN1D5 ENSG00000137692 -616523 gene 9848 MFAP3L ENSG00000198948 -616524 gene 135932 TMEM139 ENSG00000178826 -616525 gene 124565 SLC38A10 ENSG00000157637 -616526 gene 151258 SLC38A11 ENSG00000169507 -616527 gene 119392 SFR1 ENSG00000156384 -616528 gene 375757 SWI5 ENSG00000175854 -616529 gene 54915 YTHDF1 ENSG00000149658 -616530 gene 64848 YTHDC2 ENSG00000047188 -616531 phenotype -616532 phenotype -616533 gene 64794 DDX31 ENSG00000125485 -616534 phenotype -616535 phenotype -616536 gene 128821 CST9L ENSG00000101435 -616537 gene 128434 VSTM2L ENSG00000132821 -616538 phenotype -616539 phenotype -616540 phenotype -616541 phenotype -616542 gene 219409 GSX1 ENSG00000169840 -616543 gene 128822 CST9 ENSG00000173335 -616544 phenotype -616545 gene 10650 PRELID3A ENSG00000141391 -616546 phenotype -616547 gene 254773 LYG2 ENSG00000185674 -616548 gene 127018 LYPLAL1 ENSG00000143353 -616549 phenotype -616550 gene 83862 TMEM120A ENSG00000189077 -616551 gene 144404 TMEM120B ENSG00000188735 -616552 gene 138199 CARNMT1 ENSG00000156017 -616553 phenotype -616554 gene 200162 SPAG17 ENSG00000155761 -616555 gene 9884 LRRC37A ENSG00000176681 -616556 gene 474170 LRRC37A2 ENSG00000238083 -616557 gene 374819 LRRC37A3 ENSG00000176809 -616558 gene 114659 LRRC37B ENSG00000185158 -616559 phenotype -616560 gene 100130520 CD300H ENSG00000284690 -616561 gene 64926 RASAL3 ENSG00000105122 -616562 phenotype -616563 gene 9748 SLK ENSG00000065613 -616564 phenotype -616565 gene 374860 ANKRD30B ENSG00000180777 -616566 phenotype -616567 gene 23604 DAPK2 ENSG00000035664 -616568 phenotype -616569 gene 51380 CSAD ENSG00000139631 -616570 phenotype -616571 gene 348174 CLEC18A ENSG00000157322 -616572 gene 497190 CLEC18B ENSG00000140839 -616573 gene 283971 CLEC18C ENSG00000157335 -616574 gene 440574 MICOS10 ENSG00000173436 -616575 gene 114823 LENG8 ENSG00000167615 -616576 phenotype -616577 phenotype -616578 gene 22890 ZBTB1 ENSG00000126804 -616579 phenotype -616580 phenotype -616581 gene 390245 KDM4E ENSG00000235268 -616582 gene 51599 LSR ENSG00000105699 -616583 phenotype -616584 gene 26165 SPATA31A7 ENSG00000276040 -616585 gene 89970 RSPRY1 ENSG00000159579 -616586 phenotype -616587 gene 79607 FAM118B ENSG00000197798 -616588 gene 200895 DHFR2 ENSG00000178700 -616589 phenotype -616590 gene 9925 ZBTB5 ENSG00000168795 -616591 gene 201501 ZBTB7C ENSG00000184828 -616592 phenotype -616593 gene 388581 C1QTNF12 ENSG00000184163 -616594 gene 55616 ASAP3 ENSG00000088280 -616595 gene 57621 ZBTB2 ENSG00000181472 -616596 gene 55207 ARL8B ENSG00000134108 -616597 gene 127829 ARL8A ENSG00000143862 -616598 gene 118426 BORCS5 ENSG00000165714 -616599 gene 54785 BORCS6 ENSG00000196544 -616600 gene 119032 BORCS7 ENSG00000166275 -616601 gene 729991 BORCS8 ENSG00000254901 -616602 phenotype -616603 phenotype -616604 phenotype -616605 gene 51527 GSKIP ENSG00000100744 -616606 phenotype -616607 gene 84541 KBTBD8 ENSG00000163376 -616608 gene 90355 MACIR ENSG00000181751 -616609 gene 157378 TMEM65 ENSG00000164983 -616610 gene 401237 CASC15 -616611 gene 645323 LINC00461 ENSG00000245526 -616612 gene 646300 COL6A4P2 -616613 gene 131873 COL6A6 ENSG00000206384 -616614 gene 54969 HPF1 ENSG00000056050 -616615 gene 55790 CSGALNACT1 ENSG00000147408 -616616 gene 55454 CSGALNACT2 ENSG00000169826 -616617 phenotype -616618 gene 91452 ACBD5 ENSG00000107897 -616619 gene 344595 DUBR ENSG00000243701 -616620 gene 55759 WDR12 ENSG00000138442 -616621 gene 55661 DDX27 ENSG00000124228 -616622 phenotype -616623 gene 9834 FAM30A ENSG00000226777 -616624 gene 55421 NCBP3 ENSG00000074356 -616625 phenotype -616626 gene 51148 CERCAM ENSG00000167123 -616627 gene 50512 PODXL2 ENSG00000114631 -616628 gene 84792 FAM220A ENSG00000178397 -616629 phenotype -616630 gene 140767 NRSN1 ENSG00000152954 -616631 phenotype -616632 phenotype -616633 gene 57479 PRR12 ENSG00000126464 -616634 gene 25992 SNED1 ENSG00000162804 -616635 gene 50626 CYHR1 ENSG00000187954 -616636 phenotype -616637 gene 125058 TBC1D16 ENSG00000167291 -616638 phenotype -616639 gene 56978 PRDM8 ENSG00000152784 -616640 phenotype -616641 gene 50862 RNF141 ENSG00000110315 -616642 gene 221477 C6orf89 ENSG00000198663 -616643 gene 50810 HDGFL3 ENSG00000166503 -616644 gene 50624 CUZD1 ENSG00000138161 -616645 phenotype -616646 gene 147183 KRT25 ENSG00000204897 -616647 phenotype -616648 phenotype 106783499 -616649 phenotype -616650 gene 23247 KATNIP ENSG00000047578 -616651 phenotype -616652 phenotype -616653 gene 25957 PNISR ENSG00000132424 -616654 phenotype -616655 gene 23094 SIPA1L3 ENSG00000105738 -616656 gene 54951 COMMD8 ENSG00000169019 -616657 phenotype -616658 gene 125988 MICOS13 ENSG00000174917 -616659 gene 79735 TBC1D17 ENSG00000104946 -616660 gene 84286 TMEM175 ENSG00000127419 -616661 gene 22880 MORC2 ENSG00000133422 -616662 gene 55623 THUMPD1 ENSG00000066654 -616663 gene 727676 SNORD118 ENSG00000200463 -616664 gene 692084 SNORD13 ENSG00000239039 -616665 gene 6856 SYPL1 ENSG00000008282 -616666 gene 124925 SEZ6 ENSG00000063015 -616667 gene 26470 SEZ6L2 ENSG00000174938 -616668 phenotype -616669 phenotype -616670 gene 23344 ESYT1 ENSG00000139641 -616671 gene 51350 KRT76 ENSG00000185069 -616672 phenotype -616673 gene 220134 SKA1 ENSG00000154839 -616674 gene 348235 SKA2 ENSG00000182628 -616675 gene 353288 KRT26 ENSG00000186393 -616676 gene 342574 KRT27 ENSG00000171446 -616677 gene 162605 KRT28 ENSG00000173908 -616678 gene 390792 KRT39 ENSG00000196859 -616679 gene 125115 KRT40 ENSG00000204889 -616680 phenotype -616681 phenotype -616682 phenotype -616683 phenotype -616684 phenotype -616685 phenotype -616686 gene 10492 SYNCRIP ENSG00000135316 -616687 phenotype -616688 phenotype -616689 phenotype -616690 gene 9731 CEP104 ENSG00000116198 -616691 gene 57488 ESYT2 ENSG00000117868 -616692 gene 83850 ESYT3 ENSG00000158220 -616693 gene 51802 ASIC5 ENSG00000256394 -616694 gene 23392 ECPAS ENSG00000136813 -616695 gene 51657 STYXL1 ENSG00000127952 -616696 gene 9674 KIAA0040 ENSG00000235750 -616697 phenotype -616698 gene 51042 ZNF593 ENSG00000142684 -616699 gene 51122 COMMD2 ENSG00000114744 -616700 gene 23412 COMMD3 ENSG00000148444 -616701 gene 54939 COMMD4 ENSG00000140365 -616702 gene 51385 ZNF589 ENSG00000164048 -616703 gene 149951 COMMD7 ENSG00000149600 -616704 gene 51397 COMMD10 ENSG00000145781 -616705 phenotype -616706 gene 57097 PARP11 ENSG00000111224 -616707 phenotype -616708 phenotype -616709 gene 51146 A4GNT ENSG00000118017 -616710 phenotype -616711 gene 51347 TAOK3 ENSG00000135090 -616712 gene 56910 STARD7 ENSG00000084090 -616713 gene 51268 PIPOX ENSG00000179761 -616714 gene 26959 HBP1 ENSG00000105856 -616715 gene 51075 TMX2 ENSG00000213593 -616716 phenotype -616717 gene 54881 TEX10 ENSG00000136891 -616718 gene 51335 NGRN ENSG00000182768 -616719 phenotype -616720 phenotype -616721 phenotype -616722 phenotype -616723 phenotype -616724 phenotype -616725 gene 91351 DDX60L ENSG00000181381 -616726 phenotype -616727 gene 112885 PHF21B ENSG00000056487 -616728 phenotype -616729 gene 343171 OR2W3 ENSG00000238243 -616730 phenotype -616731 gene 341676 NEK5 ENSG00000197168 -616732 phenotype -616733 phenotype -616734 phenotype -616735 gene 51244 CCDC174 ENSG00000154781 -616736 phenotype -616737 phenotype -616738 phenotype -616739 phenotype -616740 phenotype -616741 gene 59336 PRDM13 ENSG00000112238 -616742 gene 51602 NOP58 ENSG00000055044 -616743 gene 57139 RGL3 ENSG00000205517 -616744 phenotype -616745 gene 91272 BOD1 ENSG00000145919 -616746 gene 259282 BOD1L1 ENSG00000038219 -616747 gene 56994 CHPT1 ENSG00000111666 -616748 gene 377841 ENTPD8 ENSG00000188833 -616749 phenotype -616750 gene 84287 ZDHHC16 ENSG00000171307 -616751 gene 10390 CEPT1 ENSG00000134255 -616752 gene 51617 NSG2 ENSG00000170091 -616753 gene 57089 ENTPD7 ENSG00000198018 -616754 phenotype -616755 gene 55223 TRIM62 ENSG00000116525 -616756 phenotype -616757 gene 129303 TMEM150A ENSG00000168890 -616758 gene 126695 KDF1 ENSG00000175707 -616759 gene 51070 NOSIP ENSG00000142546 -616760 phenotype -616761 gene 9766 SUSD6 ENSG00000100647 -616762 gene 126731 CCSAP ENSG00000154429 -616763 phenotype -616764 gene 283537 SLC46A3 ENSG00000139508 -616765 gene 148398 SAMD11 ENSG00000187634 -616766 gene 56255 TMX4 ENSG00000125827 -616767 gene 84290 CAPNS2 ENSG00000256812 -616768 gene 347688 TUBB8 ENSG00000261456 -616769 gene 56954 NIT2 ENSG00000114021 -616770 gene 407000 MIR218-1 ENSG00000207732 -616771 gene 407001 MIR218-2 ENSG00000207739 -616772 gene 57134 MAN1C1 ENSG00000117643 -616773 gene 374986 MIGA1 ENSG00000180488 -616774 gene 84895 MIGA2 ENSG00000148343 -616775 gene 257101 ZNF683 ENSG00000176083 -616776 gene 128853 DUSP15 ENSG00000149599 -616777 phenotype -616778 gene 56940 DUSP22 ENSG00000112679 -616779 phenotype -616780 phenotype -616781 phenotype -616782 gene 51301 GCNT4 ENSG00000176928 -616783 gene 127733 UBXN10 ENSG00000162543 -616784 phenotype -616785 gene 57157 PHTF2 ENSG00000006576 -616786 gene 23005 MAPKBP1 ENSG00000137802 -616787 gene 23059 CLUAP1 ENSG00000103351 -616788 phenotype -616789 phenotype -616790 gene 57718 PPP4R4 ENSG00000119698 -616791 gene 79605 PGBD5 ENSG00000177614 -616792 phenotype 107181289 -616793 gene 64600 PLA2G2F ENSG00000158786 -616794 phenotype -616795 phenotype -616796 gene 57665 RDH14 ENSG00000240857 -616797 gene 22979 EFR3B ENSG00000084710 -616798 gene 140612 ZFP28 ENSG00000196867 -616799 gene 221711 SYCP2L ENSG00000153157 -616800 gene 100287616 LOXL1-AS1 ENSG00000261801 -616801 phenotype -616802 gene 441864 TARM1 ENSG00000248385 -616803 phenotype -616804 gene 284415 VSTM1 ENSG00000189068 -616805 gene 80177 MYCT1 ENSG00000120279 -616806 phenotype -616807 gene 85302 FBF1 ENSG00000188878 -616808 gene 55337 SHFL ENSG00000130813 -616809 phenotype -616810 gene 57722 IGDCC4 ENSG00000103742 -616811 phenotype -616812 phenotype -616813 gene 116988 AGAP3 ENSG00000133612 -616814 phenotype -616815 gene 147007 TMEM199 ENSG00000244045 -616816 phenotype -616817 phenotype -616818 phenotype -616819 phenotype -616820 gene 64779 MTHFSD ENSG00000103248 -616821 gene 55901 THSD1 ENSG00000136114 -616822 gene 23041 MON2 ENSG00000061987 -616823 gene 23033 DOP1A ENSG00000083097 -616824 gene 388610 TRNP1 ENSG00000253368 -616825 gene 57727 NCOA5 ENSG00000124160 -616826 gene 58513 EPS15L1 ENSG00000127527 -616827 phenotype -616828 phenotype -616829 phenotype -616830 gene 128989 TANGO2 ENSG00000183597 -616831 phenotype -616832 gene 127294 MYOM3 ENSG00000142661 -616833 phenotype -616834 phenotype -616835 phenotype -616836 gene 55105 GPATCH2 ENSG00000092978 -616837 gene 112590798 ENSG00000280707 -616838 gene 388512 CLEC17A ENSG00000187912 -616839 phenotype -616840 phenotype -616841 gene 90333 ZNF468 ENSG00000204604 -616842 gene 111365204 -616843 phenotype -616844 gene 55192 DNAJC17 ENSG00000104129 -616845 gene 161198 CLEC14A ENSG00000176435 -616846 gene 23065 EMC1 ENSG00000127463 -616847 gene 125919 ZNF543 ENSG00000178229 -616848 gene 57708 MIER1 ENSG00000198160 -616849 phenotype -616850 gene 84292 WDR83 ENSG00000123154 -616851 phenotype -616852 phenotype -616853 gene 554282 FAM72C ENSG00000263513 -616854 phenotype -616855 gene 341947 COX8C ENSG00000187581 -616856 gene 27154 BRPF3 ENSG00000096070 -616857 gene 22802 CLCA4 ENSG00000016602 -616858 phenotype -616859 phenotype -616860 phenotype -616861 gene 56996 SLC12A9 ENSG00000146828 -616862 gene 6164 RPL34 ENSG00000109475 -616863 phenotype -616864 gene 284004 HEXD ENSG00000169660 -616865 gene 64895 PAPOLG ENSG00000115421 -616866 phenotype -616867 phenotype -616868 phenotype -616869 gene 255919 CNEP1R1 ENSG00000205423 -616870 gene 28978 TMEM14A ENSG00000096092 -616871 phenotype -616872 gene 56889 TM9SF3 ENSG00000077147 -616873 phenotype -616874 gene 51643 TMBIM4 ENSG00000155957 -616875 phenotype -616876 gene 50999 TMED5 ENSG00000117500 -616877 gene 252839 TMEM9 ENSG00000116857 -616878 phenotype -616879 gene 25771 TBC1D22A ENSG00000054611 -616880 gene 55633 TBC1D22B ENSG00000065491 -616881 phenotype -616882 phenotype -616883 gene 58477 SRPRB ENSG00000144867 -616884 gene 57578 UNC79 ENSG00000133958 -616885 gene 23589 CARHSP1 ENSG00000153048 -616886 gene 23199 GSE1 ENSG00000131149 -616887 phenotype -616888 gene 51754 TMEM8B ENSG00000137103 -616889 gene 23177 CEP68 ENSG00000011523 -616890 phenotype -616891 gene 100507537 STRIT1 ENSG00000240045 -616892 phenotype -616893 phenotype -616894 phenotype -616895 gene 101927152 SAMMSON ENSG00000240405 -616896 phenotype -616897 phenotype -616898 phenotype -616899 gene 93627 TBCK ENSG00000145348 -616900 phenotype -616901 phenotype -616902 phenotype -616903 phenotype -616904 gene 80005 DOCK5 ENSG00000147459 -616905 gene 93621 MRFAP1 ENSG00000179010 -616906 gene 55259 DNAI7 ENSG00000118307 -616907 phenotype -616908 gene 442213 PTCHD4 ENSG00000244694 -616909 gene 80323 CCDC68 ENSG00000166510 -616910 phenotype -616911 phenotype -616912 gene 51466 EVL ENSG00000196405 -616913 phenotype -616914 phenotype -616915 gene 220930 ZEB1-AS1 ENSG00000237036 -616916 gene 64744 SMAP2 ENSG00000084070 -616917 phenotype -616918 gene 54872 PIGG ENSG00000174227 -616919 gene 22844 FRMPD1 ENSG00000070601 -616920 phenotype -616921 phenotype -616922 phenotype -616923 gene 388591 RNF207 ENSG00000158286 -616924 phenotype -616925 gene 55449 DHRS4-AS1 ENSG00000215256 -616926 gene 53828 FXYD4 ENSG00000150201 -616927 gene 90332 EXOC3L2 ENSG00000283632 -616928 gene 55076 TMEM45A ENSG00000181458 -616929 gene 80298 MTERF2 ENSG00000120832 -616930 gene 51001 MTERF3 ENSG00000156469 -616931 gene 84750 FUT10 ENSG00000172728 -616932 gene 170384 FUT11 ENSG00000196968 -616933 gene 84248 FYTTD1 ENSG00000122068 -616934 gene 284071 MEIOC ENSG00000180336 -616935 gene 23197 FAF2 ENSG00000113194 -616936 gene 80205 CHD9 ENSG00000177200 -616937 phenotype -616938 phenotype -616939 phenotype -616940 gene 55218 EXD2 ENSG00000081177 -616941 phenotype -616942 gene 10954 PDIA5 ENSG00000065485 -616943 phenotype -616944 phenotype -616945 gene 134829 CLVS2 ENSG00000146352 -616946 phenotype -616947 phenotype -616948 phenotype -616949 phenotype -616950 phenotype -616951 gene 92154 MTSS2 ENSG00000132613 -616952 gene 63933 MCUR1 ENSG00000050393 -616953 gene 51596 CUTA ENSG00000112514 -616954 phenotype -616955 gene 161253 REM2 ENSG00000139890 -616956 gene 122664 TPPP2 ENSG00000179636 -616957 gene 51673 TPPP3 ENSG00000159713 -616958 moved/removed -616959 phenotype -616960 gene 474344 GIMAP6 ENSG00000133561 -616961 gene 168537 GIMAP7 ENSG00000179144 -616962 gene 155038 GIMAP8 ENSG00000171115 -616963 phenotype -616964 moved/removed -616965 gene 221188 ADGRG5 ENSG00000159618 -616966 gene 57406 ABHD6 ENSG00000163686 -616967 gene 84817 TXNDC17 ENSG00000129235 -616968 phenotype -616969 phenotype -616970 gene 83742 MARVELD1 ENSG00000155254 -616971 gene 51614 ERGIC3 ENSG00000125991 -616972 gene 574443 MIR490 ENSG00000207597 -616973 phenotype -616974 phenotype -616975 phenotype -616976 gene 135644 TRIM40 ENSG00000204614 -616977 phenotype -616978 gene 84269 CHCHD5 ENSG00000125611 -616979 gene 401124 DTHD1 ENSG00000197057 -616980 gene 78996 CYREN ENSG00000122783 -616981 phenotype -616982 gene 93166 PRDM6 ENSG00000061455 -616983 gene 133121 ENPP6 ENSG00000164303 -616984 gene 64111 NPVF ENSG00000105954 -616985 gene 100462977 MTRNR2L1 ENSG00000256618 -616986 gene -616987 gene 387263 C6orf120 ENSG00000185127 -616988 gene 574028 CLLU1 ENSG00000257127 -616989 gene 574016 CLLU1-AS1 ENSG00000205057 -616990 gene 27098 CLUL1 ENSG00000079101 -616991 gene 394263 MUC21 ENSG00000204544 -616992 gene 100507249 C8orf17 ENSG00000250733 -616993 gene 79161 TMEM243 ENSG00000135185 -616995 gene 85457 CIPC ENSG00000198894 -616996 gene 81844 TRIM56 ENSG00000169871 -616997 gene 339221 ENPP7 ENSG00000182156 -616998 gene 84298 LLPH ENSG00000139233 -616999 gene 146713 RBFOX3 ENSG00000167281 -617000 gene 22875 ENPP4 ENSG00000001561 -617001 gene 59084 ENPP5 ENSG00000112796 -617002 gene 92558 BICDL1 ENSG00000135127 -617003 gene 146439 BICDL2 ENSG00000162069 -617004 phenotype -617005 gene 26285 CLDN17 ENSG00000156282 -617006 phenotype -617007 gene 23087 TRIM35 ENSG00000104228 -617008 phenotype -617009 gene 79998 ANKRD53 ENSG00000144031 -617010 gene 54986 ULK4 ENSG00000168038 -617011 phenotype -617012 gene 79037 PVRIG ENSG00000213413 -617013 phenotype -617014 phenotype -617015 gene 257068 PLCXD2 ENSG00000240891 -617016 gene 345557 PLCXD3 ENSG00000182836 -617017 phenotype -617018 phenotype -617019 gene 29058 TMEM230 ENSG00000089063 -617020 phenotype -617021 phenotype -617022 phenotype -617023 phenotype -617024 phenotype -617025 phenotype -617026 phenotype -617027 phenotype -617028 phenotype -617029 gene 10509 SEMA4B ENSG00000185033 -617030 phenotype -617031 gene 84950 PRPF38A ENSG00000134748 -617032 gene 80162 PGGHG ENSG00000142102 -617033 gene 729438 CASTOR2 ENSG00000274070 -617034 gene 652968 CASTOR1 ENSG00000239282 -617035 phenotype -617036 gene 55331 ACER3 ENSG00000078124 -617037 gene 647979 NORAD ENSG00000260032 -617038 gene 100505663 LINC01370 -617039 phenotype -617040 gene 100302158 MIR1231 ENSG00000221028 -617041 phenotype -617042 gene 79792 GSDMD ENSG00000104518 -617043 gene 9828 ARHGEF17 ENSG00000110237 -617044 phenotype -617045 gene 80139 ZNF703 ENSG00000183779 -617046 phenotype -617047 phenotype -617048 gene 134218 DNAJC21 ENSG00000168724 -617049 phenotype -617050 phenotype -617051 phenotype -617052 phenotype -617053 phenotype -617054 phenotype -617055 phenotype -617056 phenotype -617057 gene 348180 CTU2 ENSG00000174177 -617058 gene 115939 TSR3 ENSG00000007520 -617059 gene 57683 ZDBF2 ENSG00000204186 -617060 gene 197021 LCTL ENSG00000188501 -617061 phenotype -617062 phenotype -617063 phenotype -617064 gene 60558 GUF1 ENSG00000151806 -617065 phenotype -617066 phenotype -617067 gene 646627 LYPD8 ENSG00000259823 -617068 phenotype -617069 phenotype -617070 phenotype -617071 gene -617072 phenotype -617073 phenotype -617074 gene 140775 SMCR8 ENSG00000176994 -617075 phenotype -617076 gene 63943 FKBPL ENSG00000204315 -617077 gene 114991 ZNF618 ENSG00000157657 -617078 gene 162989 DEDD2 ENSG00000160570 -617079 gene 100499467 LINC00673 ENSG00000227036 -617080 phenotype -617081 gene 115209 OMA1 ENSG00000162600 -617082 phenotype -617083 gene 51626 DYNC2LI1 ENSG00000138036 -617084 gene 9528 TMEM59 ENSG00000116209 -617085 gene 387758 FIBIN ENSG00000176971 -617086 phenotype -617087 phenotype -617088 phenotype -617089 gene 25871 NEPRO ENSG00000163608 -617090 phenotype -617091 phenotype -617092 phenotype -617093 phenotype -617094 gene 51098 IFT52 ENSG00000101052 -617095 gene 83538 ODAD4 ENSG00000204815 -617096 gene 25789 TMEM59L ENSG00000105696 -617097 gene 404663 LINC01194 -617098 gene 440400 RNASEK ENSG00000219200 -617099 phenotype -617100 phenotype -617101 phenotype -617102 phenotype -617103 gene 79759 ZNF668 ENSG00000167394 -617104 gene 79837 PIP4K2C ENSG00000166908 -617105 phenotype -617106 phenotype -617107 phenotype -617108 phenotype -617109 gene 153222 CREBRF ENSG00000164463 -617110 gene 84131 CEP78 ENSG00000148019 -617111 phenotype -617112 gene 9851 KIAA0753 ENSG00000198920 -617113 phenotype -617114 phenotype -617115 phenotype -617116 phenotype -617117 gene 284440 LINC00663 -617118 phenotype -617119 phenotype -617120 phenotype -617121 phenotype -617122 gene 542767 PCOTH ENSG00000205861 -617123 phenotype -617124 gene 148811 PM20D1 ENSG00000162877 -617125 phenotype -617126 phenotype -617127 phenotype -617128 gene 388135 INSYN1 ENSG00000205363 -617129 gene 642938 INSYN2A ENSG00000188916 -617130 gene 283129 MAJIN ENSG00000168070 -617131 gene 145645 TERB2 ENSG00000167014 -617132 phenotype -617133 phenotype -617134 gene 55002 TMCO3 ENSG00000150403 -617135 gene 91133 L3MBTL4 ENSG00000154655 -617136 gene 109729173 TFAP2A-AS2 ENSG00000285278 -617137 phenotype -617138 gene 652991 SKOR2 ENSG00000215474 -617139 gene 653499 LGALS7B ENSG00000178934 -617140 phenotype -617141 phenotype -617142 phenotype -617143 phenotype -617144 gene 541471 MIR4435-2HG ENSG00000172965 -617145 phenotype -617146 phenotype -617147 gene 64770 CCDC14 ENSG00000175455 -617148 gene 159989 DEUP1 ENSG00000165325 -617149 gene 123811 CEP20 ENSG00000133393 -617150 gene 51304 ZDHHC3 ENSG00000163812 -617151 gene 442038 SULT1C3 ENSG00000196228 -617152 gene 391365 SULT6B1 ENSG00000138068 -617153 phenotype -617154 gene 51149 MRNIP ENSG00000161010 -617155 gene 9705 ST18 ENSG00000147488 -617156 phenotype -617157 phenotype -617158 phenotype -617159 phenotype -617160 gene 150696 PROM2 ENSG00000155066 -617161 gene 146395 GSG1L ENSG00000169181 -617162 phenotype -617163 gene 54546 RNF186 ENSG00000178828 -617164 phenotype -617165 gene 84293 PRXL2A ENSG00000122378 -617166 phenotype -617167 gene 159371 SLC35G1 ENSG00000176273 -617168 phenotype -617169 phenotype -617170 gene 10283 CWC27 ENSG00000153015 -617171 phenotype -617172 gene 493869 GPX8 ENSG00000164294 -617173 phenotype -617174 phenotype -617175 phenotype -617176 gene 100422952 MIR4271 ENSG00000264633 -617177 gene 93408 MYL10 ENSG00000106436 -617178 gene 115992 RNF166 ENSG00000158717 -617179 gene 101154753 PANDAR ENSG00000281450 -617180 phenotype -617181 gene 147798 TMC4 ENSG00000167608 -617182 phenotype -617183 phenotype -617184 phenotype -617185 gene 79730 NSUN7 ENSG00000179299 -617186 phenotype -617187 phenotype -617188 phenotype -617189 gene 375346 STIMATE ENSG00000213533 -617190 phenotype -617191 gene 378825 PICSAR ENSG00000275874 -617192 gene 80820 EEPD1 ENSG00000122547 -617193 phenotype -617194 phenotype -617195 gene 389125 MUSTN1 ENSG00000272573 -617196 gene 342125 TMC3 ENSG00000188869 -617197 gene 79838 TMC5 ENSG00000103534 -617198 gene 79905 TMC7 ENSG00000170537 -617199 gene 221078 NSUN6 ENSG00000241058 -617200 gene 93377 OPALIN ENSG00000197430 -617201 phenotype -617202 gene 399823 FOXI2 ENSG00000186766 -617203 gene 84910 TMEM87B ENSG00000153214 -617204 gene 400673 VMAC ENSG00000187650 -617205 phenotype -617206 gene 93082 NEURL3 ENSG00000163121 -617207 phenotype -617208 gene 158056 MAMDC4 ENSG00000177943 -617209 gene 55278 QRSL1 ENSG00000130348 -617210 gene 283459 GATC ENSG00000257218 -617211 gene 93099 DMKN ENSG00000161249 -617212 gene 388533 KRTDAP ENSG00000188508 -617213 phenotype -617214 phenotype -617215 gene 124944 C17orf49 ENSG00000258315 -617216 gene 147923 ZNF420 ENSG00000197050 -617217 phenotype -617218 gene 160418 TMTC3 ENSG00000139324 -617219 phenotype -617220 gene 79912 PYROXD1 ENSG00000121350 -617221 gene 80201 HKDC1 ENSG00000156510 -617222 phenotype -617223 phenotype -617224 gene 283431 GAS2L3 ENSG00000139354 -617225 phenotype -617226 gene 93487 MAPK1IP1L ENSG00000168175 -617227 gene 219293 ATAD3C ENSG00000215915 -617228 phenotype -617229 gene 152877 FAM53A ENSG00000174137 -617230 gene 162239 ZFP1 ENSG00000184517 -617231 gene 64077 LHPP ENSG00000107902 -617232 phenotype -617233 gene 55100 WDR70 ENSG00000082068 -617234 phenotype -617235 phenotype -617236 phenotype -617237 phenotype -617238 phenotype -617239 phenotype -617240 gene 79804 HAND2-AS1 ENSG00000237125 -617241 phenotype -617242 gene 253017 TECRL ENSG00000205678 -617243 phenotype -617244 phenotype -617245 gene 57520 HECW2 ENSG00000138411 -617246 gene 286053 NSMCE2 ENSG00000156831 -617247 phenotype -617248 phenotype -617249 gene 116224 PABIR1 ENSG00000187866 -617250 gene 26059 ERC2 ENSG00000187672 -617251 phenotype -617252 phenotype -617253 phenotype -617254 gene 160492 LMNTD1 ENSG00000152936 -617255 phenotype -617256 gene 157724 SLC7A13 ENSG00000164893 -617257 gene 284680 SPATA46 ENSG00000171722 -617258 phenotype -617259 gene 9730 DCAF1 ENSG00000145041 -617260 phenotype -617261 gene 90871 DMAC1 ENSG00000137038 -617262 gene 55101 DMAC2 ENSG00000105341 -617263 gene 197370 NSMCE1 ENSG00000169189 -617264 gene 58506 SCAF1 ENSG00000126461 -617265 gene 54793 KCTD9 ENSG00000104756 -617266 gene 285600 KIAA0825 ENSG00000185261 -617267 gene 79568 MAIP1 ENSG00000162972 -617268 phenotype -617269 gene 144481 SOCS2-AS1 ENSG00000246985 -617270 phenotype -617271 phenotype -617272 phenotype -617273 gene 137392 CIBAR1 ENSG00000188343 -617274 gene 339145 CIBAR2 ENSG00000153789 -617275 phenotype -617276 phenotype -617277 gene 144132 DNHD1 ENSG00000179532 -617278 gene 23258 DENND5A ENSG00000184014 -617279 gene 160518 DENND5B ENSG00000170456 -617280 phenotype -617281 phenotype -617282 phenotype -617283 gene 91746 YTHDC1 ENSG00000083896 -617284 phenotype -617285 gene 127540 HMGB4 ENSG00000176256 -617286 gene 110231149 PANCR ENSG00000250103 -617287 gene 163404 PLPPR5 ENSG00000117598 -617288 gene 84651 SPINK7 ENSG00000145879 -617289 gene 9679 FAM53B ENSG00000189319 -617290 phenotype -617291 gene 284417 TMEM150B ENSG00000180061 -617292 gene 441027 TMEM150C ENSG00000249242 -617293 gene 54587 MXRA8 ENSG00000162576 -617294 phenotype -617295 gene 154661 RUNDC3B ENSG00000105784 -617296 phenotype -617297 phenotype -617298 gene 150209 AIFM3 ENSG00000183773 -617299 gene 84268 RPAIN ENSG00000129197 -617300 phenotype -617301 phenotype -617302 phenotype -617303 phenotype -617304 phenotype -617305 gene 441168 CALHM6 ENSG00000188820 -617306 phenotype -617307 gene 317761 C14orf39 ENSG00000179008 -617308 phenotype -617309 gene 91156 IGFN1 ENSG00000163395 -617310 gene 124401 ANKS3 ENSG00000168096 -617311 gene 653808 ZG16 ENSG00000174992 -617312 gene 57700 FHIP2A ENSG00000151553 -617313 gene 90525 SHF ENSG00000138606 -617314 gene 26751 SH3YL1 ENSG00000035115 -617315 phenotype -617316 gene 27296 TP53TG5 ENSG00000124251 -617317 gene 22835 ZFP30 ENSG00000120784 -617318 gene 23623 RUSC1 ENSG00000160753 -617319 phenotype -617320 phenotype -617321 phenotype -617322 gene 92799 SHKBP1 ENSG00000160410 -617323 phenotype -617324 gene 387914 SHISA2 ENSG00000180730 -617325 gene 152573 SHISA3 ENSG00000178343 -617326 gene 149345 SHISA4 ENSG00000198892 -617327 gene 388336 SHISA6 ENSG00000188803 -617328 gene 729956 SHISA7 ENSG00000187902 -617329 gene 440829 SHISA8 ENSG00000234965 -617330 phenotype -617331 gene 91749 MFSD4B ENSG00000173214 -617332 gene 283847 TERB1 ENSG00000249961 -617333 phenotype -617334 gene 254887 ZDHHC23 ENSG00000184307 -617335 gene 84650 EBPL ENSG00000123179 -617336 phenotype -617337 phenotype -617338 gene 84309 NUDT16L1 ENSG00000168101 -617339 phenotype -617340 gene 151531 UPP2 ENSG00000007001 -617341 phenotype -617342 gene 391356 PTRHD1 ENSG00000184924 -617343 phenotype -617344 gene 157285 PRAG1 ENSG00000275342 -617345 gene 79841 AGBL2 ENSG00000165923 -617346 gene 340351 AGBL3 ENSG00000146856 -617347 phenotype -617348 gene 119587 CPXM2 ENSG00000121898 -617349 phenotype -617350 phenotype -617351 gene 285313 IGSF10 ENSG00000152580 -617352 phenotype -617353 gene 255758 DYNLT2B ENSG00000213123 -617354 gene 57332 CBX8 ENSG00000141570 -617355 gene 126272 EID2B ENSG00000176401 -617356 gene 23145 SSPOP ENSG00000197558 -617357 gene 7673 ZNF222 ENSG00000159885 -617358 gene 27111 SDCBP2 ENSG00000125775 -617359 gene 56977 STOX2 ENSG00000173320 -617360 phenotype -617361 gene 66000 TMEM108 ENSG00000144868 -617362 gene 57647 DHX37 ENSG00000150990 -617363 gene 54972 TMEM132A ENSG00000006118 -617364 phenotype -617365 gene 25980 AAR2 ENSG00000131043 -617366 gene 55297 CCDC91 ENSG00000123106 -617367 gene 56243 KIAA1217 ENSG00000120549 -617368 gene 23616 SH3BP1 ENSG00000100092 -617369 gene 22927 HABP4 ENSG00000130956 -617370 phenotype -617371 gene 58499 ZNF462 ENSG00000148143 -617372 gene 399694 SHC4 ENSG00000185634 -617373 gene 23215 PRRC2C ENSG00000117523 -617374 gene 388324 INCA1 ENSG00000196388 -617375 gene 126823 KLHDC9 ENSG00000162755 -617376 gene 147011 PROCA1 ENSG00000167525 -617377 gene 85360 SYDE1 ENSG00000105137 -617378 gene 29895 MYL11 ENSG00000180209 -617379 gene 80179 MYO19 ENSG00000278259 -617380 gene 90580 TIMM29 ENSG00000142444 -617381 gene 131870 NUDT16 ENSG00000198585 -617382 gene 10809 STARD10 ENSG00000214530 -617383 phenotype -617384 phenotype -617385 gene 90423 ATP6V1E2 ENSG00000250565 -617386 predominantly phenotypes 643609 NR1H5P ENSG00000227970 -617387 gene 54870 QRICH1 ENSG00000198218 -617388 phenotype -617389 phenotype -617390 gene 158405 KIAA1958 ENSG00000165185 -617391 phenotype -617392 phenotype -617393 phenotype -617394 phenotype -617395 phenotype -617396 phenotype -617397 phenotype -617398 gene 23307 FKBP15 ENSG00000119321 -617399 gene 5827 PXMP2 ENSG00000176894 -617400 gene 79852 EPHX3 ENSG00000105131 -617401 gene 253152 EPHX4 ENSG00000172031 -617402 phenotype -617403 phenotype -617404 phenotype -617405 phenotype -617406 phenotype -617407 gene 84333 PCGF5 ENSG00000180628 -617408 phenotype -617409 phenotype -617410 gene 79744 ZNF419 ENSG00000105136 -617411 gene 57221 ARFGEF3 ENSG00000112379 -617412 phenotype -617413 gene 58497 PRUNE1 ENSG00000143363 -617414 gene 9045 RPL14 ENSG00000188846 -617415 gene 6160 RPL31 ENSG00000071082 -617416 gene 6123 RPL3L ENSG00000140986 -617417 gene 285855 RPL7L1 ENSG00000146223 -617418 gene 79726 WDR59 ENSG00000103091 -617419 gene 10609 P3H4 ENSG00000141696 -617420 gene 144577 KICS2 ENSG00000174206 -617421 gene 55846 ITFG2 ENSG00000111203 -617422 gene 22850 ADNP2 ENSG00000101544 -617423 gene 78994 PRR14 ENSG00000156858 -617424 gene 80232 WDR26 ENSG00000162923 -617425 phenotype -617426 gene 54544 CRCT1 ENSG00000169509 -617427 gene 338324 S100A7A ENSG00000184330 -617428 gene 25912 C1orf43 ENSG00000143612 -617429 gene 55585 UBE2Q1 ENSG00000160714 -617430 gene 266977 ADGRF1 ENSG00000153292 -617431 gene 54532 USP53 ENSG00000145390 -617432 phenotype -617433 phenotype -617434 gene 642934 CERNA2 ENSG00000285972 -617435 phenotype -617436 gene 84520 GON7 ENSG00000170270 -617437 gene 140576 S100A16 ENSG00000188643 -617438 gene 23466 CBX6 ENSG00000183741 -617439 phenotype -617440 gene 100302522 PTCSC1 ENSG00000287736 -617441 phenotype -617442 phenotype -617443 phenotype -617444 gene 90827 ZNF479 ENSG00000185177 -617445 gene 84196 USP48 ENSG00000090686 -617446 gene 494143 CHAC2 ENSG00000143942 -617447 gene 9924 PAN2 ENSG00000135473 -617448 gene 255967 PAN3 ENSG00000152520 -617449 gene 54916 TMEM260 ENSG00000070269 -617450 phenotype -617451 gene 83592 AKR1E2 ENSG00000165568 -617452 phenotype -617453 gene 79989 TTC26 ENSG00000105948 -617454 gene 10623 POLR3C ENSG00000186141 -617455 gene 10621 POLR3F ENSG00000132664 -617456 gene 10622 POLR3G ENSG00000113356 -617457 gene 84265 POLR3GL ENSG00000121851 -617458 gene 79706 PRKRIP1 ENSG00000128563 -617459 gene 57458 TMCC3 ENSG00000057704 -617460 phenotype -617461 gene 54059 YBEY ENSG00000182362 -617462 gene 23082 PPRC1 ENSG00000148840 -617463 gene 64718 UNKL ENSG00000059145 -617464 gene 222643 UNC5CL ENSG00000124602 -617465 gene 389203 SMIM20 ENSG00000250317 -617466 phenotype -617467 gene 23150 FRMD4B ENSG00000114541 -617468 phenotype -617469 gene 246269 AFG1L ENSG00000135537 -617470 gene 10208 USPL1 ENSG00000132952 -617471 gene 145264 SERPINA12 ENSG00000165953 -617472 gene 63923 TNN ENSG00000120332 -617473 gene 10632 ATP5MG ENSG00000167283 -617474 gene 23060 ZNF609 ENSG00000180357 -617475 phenotype -617476 gene 154043 CNKSR3 ENSG00000153721 -617477 gene 25799 ZNF324 ENSG00000083812 -617478 phenotype -617479 gene 51066 SSUH2 ENSG00000125046 -617480 phenotype -617481 phenotype -617482 gene 24150 TP53TG3 ENSG00000183632 -617483 gene 29097 CNIH4 ENSG00000143771 -617484 gene 121355 GTSF1 ENSG00000170627 -617485 gene 23001 WDFY3 ENSG00000163625 -617486 gene 63906 GPATCH3 ENSG00000198746 -617487 gene 79982 DNAJB14 ENSG00000164031 -617488 gene 84881 RPUSD4 ENSG00000165526 -617489 gene 221241 LINC00305 ENSG00000179676 -617490 gene 257062 CATSPERD ENSG00000174898 -617491 gene 63899 NSUN3 ENSG00000178694 -617492 gene 93145 OLFM2 ENSG00000105088 -617493 phenotype -617494 gene 24139 EML2 ENSG00000125746 -617495 gene 407738 TAFA1 ENSG00000183662 -617496 gene 338811 TAFA2 ENSG00000198673 -617497 gene 284467 TAFA3 ENSG00000184599 -617498 gene 151647 TAFA4 ENSG00000163377 -617499 gene 25817 TAFA5 ENSG00000219438 -617500 gene 652995 UCA1 ENSG00000214049 -617501 gene 57325 KAT14 ENSG00000149474 -617502 gene 55255 WDR41 ENSG00000164253 -617503 gene 22898 DENND3 ENSG00000105339 -617504 gene 26037 SIPA1L1 ENSG00000197555 -617505 gene 133022 TRAM1L1 ENSG00000174599 -617506 phenotype -617507 phenotype -617508 gene 90850 ZNF598 ENSG00000167962 -617509 gene 23078 VWA8 ENSG00000102763 -617510 gene 257044 CATSPERE ENSG00000179397 -617511 gene 25858 CATSPERZ ENSG00000219435 -617512 gene 24149 ZNF318 ENSG00000171467 -617513 gene 55753 OGDHL ENSG00000197444 -617514 phenotype -617515 gene 84236 RHBDD1 ENSG00000144468 -617516 phenotype -617517 gene 26750 RPS6KC1 ENSG00000136643 -617518 gene 55108 BSDC1 ENSG00000160058 -617519 phenotype -617520 phenotype -617521 gene 54432 YIPF1 ENSG00000058799 -617522 gene 78992 YIPF2 ENSG00000130733 -617523 phenotype -617524 phenotype -617525 phenotype -617526 phenotype -617527 phenotype -617528 gene 84262 PSMG3 ENSG00000157778 -617529 gene 79675 FASTKD1 ENSG00000138399 -617530 gene 79072 FASTKD3 ENSG00000124279 -617531 gene 79709 COLGALT1 ENSG00000130309 -617532 phenotype -617533 gene 23127 COLGALT2 ENSG00000198756 -617534 gene 84272 YIPF4 ENSG00000119820 -617535 gene 55179 FAIM ENSG00000158234 -617536 gene 80115 BAIAP2L2 ENSG00000128298 -617537 phenotype -617538 gene 79631 EFL1 ENSG00000140598 -617539 gene 23155 CLCC1 ENSG00000121940 -617540 phenotype -617541 gene 55139 ANKZF1 ENSG00000163516 -617542 phenotype -617543 gene 10336 PCGF3 ENSG00000185619 -617544 gene 100505576 LINC00672 ENSG00000263874 -617545 gene 157777 MCMDC2 ENSG00000178460 -617546 gene 391723 HELT ENSG00000187821 -617547 phenotype -617548 gene 10406 WFDC2 ENSG00000101443 -617549 gene 58476 TP53INP2 ENSG00000078804 -617550 gene 389362 PSMG4 ENSG00000180822 -617551 gene 51092 SIDT2 ENSG00000149577 -617552 gene 26084 ARHGEF26 ENSG00000114790 -617553 gene 8857 FCGBP ENSG00000275395 -617554 gene 89846 FGD3 ENSG00000127084 -617555 gene 89848 FCHSD1 ENSG00000197948 -617556 gene 9873 FCHSD2 ENSG00000137478 -617557 phenotype -617558 gene 80217 CFAP43 ENSG00000197748 -617559 gene 55779 CFAP44 ENSG00000206530 -617560 phenotype -617561 phenotype -617562 phenotype -617563 phenotype -617564 phenotype -617565 phenotype -617566 gene 374900 ZNF568 ENSG00000198453 -617567 gene 89882 TPD52L3 ENSG00000170777 -617568 gene 205717 USF3 ENSG00000176542 -617569 gene 56992 KIF15 ENSG00000163808 -617570 gene 199221 DZIP1L ENSG00000158163 -617571 phenotype -617572 phenotype -617573 gene 387837 CLEC12B ENSG00000256660 -617574 phenotype -617575 phenotype -617576 phenotype -617577 phenotype -617578 gene 222894 FERD3L ENSG00000146618 -617579 gene 9071 CLDN10 ENSG00000134873 -617580 gene 26526 TSPAN16 ENSG00000130167 -617581 gene 25966 C2CD2 ENSG00000157617 -617582 gene 9854 C2CD2L ENSG00000172375 -617583 gene 140809 SRXN1 ENSG00000271303 -617584 phenotype -617585 phenotype -617586 gene 9855 FARP2 ENSG00000006607 -617587 gene 6703 SPRR2D ENSG00000163216 -617588 gene 6704 SPRR2E ENSG00000203785 -617589 gene 6705 SPRR2F ENSG00000244094 -617590 gene 6706 SPRR2G ENSG00000159516 -617591 phenotype -617592 phenotype -617593 phenotype -617594 gene 79864 JHY ENSG00000109944 -617595 phenotype -617596 phenotype -617597 gene 54884 RETSAT ENSG00000042445 -617598 phenotype -617599 phenotype -617600 phenotype -617601 phenotype -617602 phenotype -617603 gene 221662 RBM24 ENSG00000112183 -617604 phenotype -617605 phenotype -617606 phenotype -617607 phenotype -617608 gene 57538 ALPK3 ENSG00000136383 -617609 phenotype -617610 phenotype -617611 gene 54478 PIMREG ENSG00000129195 -617612 gene 80210 ARMC9 ENSG00000135931 -617613 phenotype -617614 gene 51490 SPOUT1 ENSG00000198917 -617615 gene 746 TMEM258 ENSG00000134825 -617616 phenotype -617617 gene 100642175 SPRY4-IT1 -617618 gene 23116 TOGARAM1 ENSG00000198718 -617619 gene 55154 MSTO1 ENSG00000125459 -617620 gene 81543 LRRC3 ENSG00000160233 -617621 gene 94104 PAXBP1 ENSG00000159086 -617622 phenotype -617623 gene 285955 SPDYE1 ENSG00000136206 -617624 gene 441273 SPDYE2 ENSG00000205238 -617625 gene 441272 SPDYE3 ENSG00000214300 -617626 phenotype -617627 gene 158376 SPAAR ENSG00000235387 -617628 gene 388333 SPDYE4 ENSG00000183318 -617629 phenotype -617630 gene 9283 GPR37L1 ENSG00000170075 -617631 gene 23288 IQCE ENSG00000106012 -617632 gene 84455 EFCAB7 ENSG00000203965 -617633 phenotype -617634 gene 643669 CCER2 ENSG00000262484 -617635 phenotype -617636 gene 101669764 CMKLR2-AS -617637 phenotype -617638 phenotype -617639 phenotype -617640 gene 54879 ST7L ENSG00000007341 -617641 phenotype -617642 phenotype -617643 phenotype -617644 phenotype -617645 gene 55709 KBTBD4 ENSG00000123444 -617646 gene 57597 BAHCC1 ENSG00000266074 -617647 gene 728606 PCAT18 ENSG00000265369 -617648 gene 55589 BMP2K ENSG00000138756 -617649 gene 63893 UBE2O ENSG00000175931 -617650 gene 103752588 PACERR -617651 gene -617652 gene 79817 MOB3B ENSG00000120162 -617653 gene 54586 EQTN ENSG00000120160 -617654 phenotype -617655 gene 22990 PCNX1 ENSG00000100731 -617656 gene 80003 PCNX2 ENSG00000135749 -617657 gene 399909 PCNX3 ENSG00000197136 -617658 gene 58472 SQOR ENSG00000137767 -617659 gene 387787 LIPT2 ENSG00000175536 -617660 phenotype -617661 phenotype -617662 phenotype -617663 phenotype -617664 phenotype -617665 phenotype -617666 phenotype -617667 phenotype -617668 phenotype -617669 phenotype -617670 gene 254528 MEIOB ENSG00000162039 -617671 phenotype -617672 phenotype -617673 gene 84690 SPATA22 ENSG00000141255 -617674 gene 27230 SERP1 ENSG00000120742 -617675 phenotype -617676 gene 5709 PSMD3 ENSG00000108344 -617677 gene -617678 gene 103164619 PCAT2 ENSG00000254166 -617679 gene 27252 KLHL20 ENSG00000076321 -617680 gene 29101 SSU72 ENSG00000160075 -617681 phenotype -617682 phenotype -617683 gene 133584 EGFLAM ENSG00000164318 -617684 gene 55646 LYAR ENSG00000145220 -617685 gene 60437 CDH26 ENSG00000124215 -617686 phenotype -617687 gene 55773 TBC1D23 ENSG00000036054 -617688 gene 25849 PARM1 ENSG00000169116 -617689 gene 27254 CSDC2 ENSG00000172346 -617690 phenotype -617691 phenotype -617692 gene 63977 PRDM15 ENSG00000141956 -617693 gene 5212 VIT ENSG00000205221 -617694 phenotype -617695 phenotype -617696 gene 101928292 LINC01488 -617697 gene 105379407 LINC02747 -617698 phenotype -617699 gene 79018 GID4 ENSG00000141034 -617700 gene 140739 UBE2F ENSG00000184182 -617701 gene 727677 CASC8 ENSG00000246228 -617702 gene 103021164 CASC21 -617703 gene 103021165 CASC19 -617704 gene 100270680 CASC11 ENSG00000249375 -617705 gene 100507056 CCAT1 -617706 phenotype -617707 phenotype -617708 gene 8872 CDC123 ENSG00000151465 -617709 phenotype -617710 phenotype -617711 phenotype -617712 phenotype -617713 phenotype -617714 gene 347273 CAVIN4 ENSG00000170681 -617715 gene 340895 MALRD1 ENSG00000204740 -617716 gene 9912 ARHGAP44 ENSG00000006740 -617717 phenotype -617718 phenotype -617719 phenotype -617720 gene 286187 PPP1R42 ENSG00000178125 -617721 phenotype -617722 gene 54957 TXNL4B ENSG00000140830 -617723 gene 23223 RRP12 ENSG00000052749 -617724 gene 9819 TSC22D2 ENSG00000196428 -617725 gene 282969 FUOM ENSG00000148803 -617726 gene 84270 CARD19 ENSG00000165233 -617727 gene 9777 TM9SF4 ENSG00000101337 -617728 gene 85459 CEP295 ENSG00000166004 -617729 phenotype -617730 phenotype -617731 phenotype -617732 phenotype -617733 gene 9849 ZNF518A ENSG00000177853 -617734 gene 85460 ZNF518B ENSG00000178163 -617735 gene 118611 C10orf90 ENSG00000154493 -617736 gene 118812 MORN4 ENSG00000171160 -617737 gene 27293 SMPDL3B ENSG00000130768 -617738 gene 89890 KBTBD6 ENSG00000165572 -617739 gene 84078 KBTBD7 ENSG00000120696 -617740 gene 147645 VSIG10L ENSG00000186806 -617741 gene 91833 WDR20 ENSG00000140153 -617742 gene 55683 KANSL3 ENSG00000114982 -617743 phenotype -617744 phenotype -617745 gene 126321 MFSD12 ENSG00000161091 -617746 phenotype -617747 gene 93349 SP140L ENSG00000185404 -617748 gene 163589 TDRD5 ENSG00000162782 -617749 phenotype -617750 gene 22998 LIMCH1 ENSG00000064042 -617751 phenotype -617752 phenotype -617753 gene 83732 RIOK1 ENSG00000124784 -617754 gene 55781 RIOK2 ENSG00000058729 -617755 phenotype -617756 phenotype -617757 phenotype -617758 gene 55657 ZNF692 ENSG00000171163 -617759 gene 285367 RPUSD3 ENSG00000156990 -617760 phenotype -617761 phenotype -617762 phenotype -617763 phenotype -617764 gene 10444 ZER1 ENSG00000160445 -617765 phenotype -617766 gene 80011 PSME3IP1 ENSG00000172775 -617767 phenotype -617768 phenotype -617769 phenotype -617770 phenotype -617771 phenotype -617772 phenotype -617773 phenotype -617774 gene 83752 LONP2 ENSG00000102910 -617775 gene 387695 C10orf99 ENSG00000188373 -617776 gene 85319 BAGE2 -617777 gene 85318 BAGE3 -617778 gene 79770 TXNDC15 ENSG00000113621 -617779 gene 254863 TMEM256 ENSG00000205544 -617780 phenotype -617781 phenotype -617782 gene 80000 GREB1L ENSG00000141449 -617783 phenotype -617784 phenotype -617785 gene 89932 PAPLN ENSG00000100767 -617786 gene 10694 CCT8 ENSG00000156261 -617787 phenotype -617788 phenotype -617789 gene 255220 TXNDC8 ENSG00000204193 -617790 gene 84203 TXNDC2 ENSG00000168454 -617791 gene 85444 LRRCC1 ENSG00000133739 -617792 gene 51061 TXNDC11 ENSG00000153066 -617793 gene 221143 EEF1AKMT1 ENSG00000150456 -617794 gene 399818 EEF1AKMT2 ENSG00000203791 -617795 gene 100170841 EPOP ENSG00000273604 -617796 phenotype -617797 gene 6725 SRMS ENSG00000125508 -617798 phenotype -617799 phenotype -617800 phenotype -617801 gene 10487 CAP1 ENSG00000131236 -617802 phenotype -617803 gene 219623 TMEM26 ENSG00000196932 -617804 phenotype -617805 phenotype -617806 gene 255043 TMEM86B ENSG00000180089 -617807 phenotype -617808 phenotype -617809 phenotype -617810 phenotype -617811 gene 55234 SMU1 ENSG00000122692 -617812 gene 80723 SLC35G2 ENSG00000168917 -617813 gene 92162 TMEM88 ENSG00000167874 -617814 gene 339168 TMEM95 ENSG00000182896 -617815 gene 55718 POLR3E ENSG00000058600 -617816 phenotype -617817 gene 10844 TUBGCP2 ENSG00000130640 -617818 gene 10426 TUBGCP3 ENSG00000126216 -617819 gene 55103 RALGPS2 ENSG00000116191 -617820 phenotype -617821 phenotype -617822 phenotype -617823 gene 114825 PWWP2A ENSG00000170234 -617824 gene 54014 BRWD1 ENSG00000185658 -617825 phenotype -617826 gene 25972 UNC50 ENSG00000115446 -617827 phenotype -617828 gene 85446 ZFHX2 ENSG00000136367 -617829 phenotype -617830 phenotype -617831 phenotype -617832 gene 132203 SNTN ENSG00000188817 -617833 gene 109729160 ZFHX2-AS1 -617834 gene 55111 PLEKHJ1 ENSG00000104886 -617835 gene 55066 PDPR ENSG00000090857 -617836 phenotype -617837 gene 389400 GFRAL ENSG00000187871 -617838 gene 57613 FAM234B ENSG00000084444 -617839 phenotype -617840 gene 54802 TRIT1 ENSG00000043514 -617841 gene 143471 PSMA8 ENSG00000154611 -617842 gene 5707 PSMD1 ENSG00000173692 -617843 gene 10069 RWDD2B ENSG00000156253 -617844 gene 5714 PSMD8 ENSG00000099341 -617845 gene 388931 MFSD2B ENSG00000205639 -617846 gene 84844 PHF5A ENSG00000100410 -617847 gene 83443 SF3B5 ENSG00000169976 -617848 gene 9879 DDX46 ENSG00000145833 -617849 gene 23350 U2SURP ENSG00000163714 -617850 gene 29950 SERTAD1 ENSG00000197019 -617851 gene 9792 SERTAD2 ENSG00000179833 -617852 gene 11196 SEC23IP ENSG00000107651 -617853 gene 374969 SVBP ENSG00000177868 -617854 phenotype -617855 gene 154743 BMT2 ENSG00000164603 -617856 gene 9473 THEMIS2 ENSG00000130775 -617857 gene 9861 PSMD6 ENSG00000163636 -617858 gene 9491 PSMF1 ENSG00000125818 -617859 gene 9787 DLGAP5 ENSG00000126787 -617860 gene 253970 SFTA3 ENSG00000229415 -617861 gene 339344 MYPOP ENSG00000176182 -617862 phenotype -617864 phenotype -617865 phenotype -617866 phenotype -617867 gene 9537 TP53I11 ENSG00000175274 -617868 gene 92345 NAF1 ENSG00000145414 -617869 gene 54729 NKX1-1 ENSG00000235608 -617870 gene 9857 CEP350 ENSG00000135837 -617871 phenotype -617872 phenotype -617873 phenotype -617874 phenotype -617875 phenotype -617876 gene 100147744 RNU7-1 ENSG00000238923 -617877 phenotype -617878 gene 113457 TUBA3D ENSG00000075886 -617879 phenotype -617880 gene 134359 POC5 ENSG00000152359 -617881 gene 285556 C4orf54 ENSG00000248713 -617882 phenotype -617883 phenotype -617884 gene 84717 HDGFL2 ENSG00000167674 -617885 phenotype -617886 gene 57473 ZNF512B ENSG00000196700 -617887 gene 79814 AGMAT ENSG00000116771 -617888 gene 51157 ZNF580 ENSG00000213015 -617889 gene 84795 PYROXD2 ENSG00000119943 -617890 gene 144348 ZNF664 ENSG00000179195 -617891 gene 79027 ZNF655 ENSG00000197343 -617892 phenotype -617893 gene 25873 RPL36 ENSG00000130255 -617894 gene 757 TMEM50B ENSG00000142188 -617895 phenotype -617896 gene 85416 ZIC5 ENSG00000139800 -617897 gene 751071 CSKMT ENSG00000214756 -617898 phenotype -617899 phenotype -617900 phenotype -617901 gene 28955 DEXI ENSG00000182108 -617902 gene 29094 LGALSL ENSG00000119862 -617903 phenotype -617904 phenotype -617905 gene 29923 HILPDA ENSG00000135245 -617906 gene 29105 CFAP20 ENSG00000070761 -617907 phenotype -617908 gene 25888 ZNF473 ENSG00000142528 -617909 gene 84967 LSM10 ENSG00000181817 -617910 gene 134353 LSM11 ENSG00000155858 -617911 phenotype -617912 phenotype -617913 phenotype -617914 phenotype -617915 phenotype -617916 phenotype -617917 phenotype -617918 gene 85369 STRIP1 ENSG00000143093 -617919 gene 57464 STRIP2 ENSG00000128578 -617920 phenotype -617921 phenotype -617922 gene 2993 GYPA ENSG00000170180 -617923 gene 2994 GYPB ENSG00000250361 -617924 phenotype -617925 phenotype -617926 phenotype -617927 phenotype -617928 phenotype -617929 phenotype -617930 phenotype -617931 phenotype -617932 gene 85415 RHPN2 ENSG00000131941 -617933 phenotype -617934 gene 121536 AEBP2 ENSG00000139154 -617935 phenotype -617936 phenotype -617937 gene 54033 RBM11 ENSG00000185272 -617938 phenotype -617939 gene 339559 ZFP69 ENSG00000187815 -617940 gene 26030 PLEKHG3 ENSG00000126822 -617941 phenotype -617942 gene 81926 ABHD17A ENSG00000129968 -617943 gene 51104 ABHD17B ENSG00000107362 -617944 gene 58489 ABHD17C ENSG00000136379 -617945 gene 284697 BTBD8 ENSG00000189195 -617946 gene 57222 ERGIC1 ENSG00000113719 -617947 gene 54663 WDR74 ENSG00000133316 -617948 phenotype -617949 gene 79846 CFAP69 ENSG00000105792 -617950 phenotype -617951 phenotype -617952 phenotype -617953 predominantly phenotypes -617954 phenotype -617955 phenotype -617956 phenotype -617957 gene 127255 LRRIQ3 ENSG00000162620 -617958 gene 23379 ICE1 ENSG00000164151 -617959 phenotype -617960 phenotype -617961 phenotype -617962 gene 152485 ZNF827 ENSG00000151612 -617963 gene 122402 TDRD9 ENSG00000156414 -617964 phenotype -617965 phenotype -617966 phenotype -617967 phenotype -617968 gene 126820 DNAI3 ENSG00000162643 -617969 gene 160762 CCDC63 ENSG00000173093 -617970 phenotype -617971 phenotype -617972 gene 253832 ZDHHC20 ENSG00000180776 -617973 phenotype -617974 phenotype -617975 gene 125228 FAM210A ENSG00000177150 -617976 phenotype -617977 phenotype -617978 gene 51571 CYRIB ENSG00000153310 -617979 gene 105370268 -617980 phenotype -617981 phenotype -617982 phenotype -617983 phenotype -617984 phenotype -617985 phenotype -617986 gene 143458 LDLRAD3 ENSG00000179241 -617987 gene 51603 METTL13 ENSG00000010165 -617988 phenotype -617989 gene 122830 NAA30 ENSG00000139977 -617990 gene 84316 NAA38 ENSG00000183011 -617991 phenotype -617992 phenotype -617993 phenotype -617994 phenotype -617995 phenotype -617996 phenotype -617997 gene 91433 RCCD1 ENSG00000166965 -617998 gene 64762 GAREM1 ENSG00000141441 -617999 gene 150946 GAREM2 ENSG00000157833 -618000 phenotype -618001 gene 57614 RELCH ENSG00000134444 -618002 gene 375449 MAST4 ENSG00000069020 -618003 phenotype -618004 phenotype -618005 phenotype -618006 phenotype -618007 moved/removed -618008 phenotype -618009 phenotype -618010 phenotype -618011 phenotype -618012 phenotype -618013 phenotype -618014 phenotype -618015 phenotype -618016 gene 55599 RNPC3 ENSG00000185946 -618017 gene 54522 ANKRD16 ENSG00000134461 -618018 phenotype -618019 phenotype -618020 gene 84861 KLHL22 ENSG00000099910 -618021 phenotype -618022 phenotype -618023 gene 388677 NOTCH2NLA ENSG00000264343 -618024 gene 100996763 NOTCH2NLB ENSG00000286019 -618025 gene 100996717 NOTCH2NLC ENSG00000286219 -618026 predominantly phenotypes 101929796 NOTCH2NLR ENSG00000286106 -618027 phenotype -618028 gene 149840 SHLD1 ENSG00000171984 -618029 gene 54537 SHLD2 ENSG00000122376 -618030 gene 112441434 SHLD3 ENSG00000253251 -618031 phenotype -618032 gene 79724 ZNF768 ENSG00000169957 -618033 gene 115509 ZNF689 ENSG00000156853 -618034 gene 29015 SLC43A3 ENSG00000134802 -618035 gene 23158 TBC1D9 ENSG00000109436 -618036 phenotype -618037 gene 9745 ZNF536 ENSG00000198597 -618038 gene 158401 SHOC1 ENSG00000165181 -618039 gene 23061 TBC1D9B ENSG00000197226 -618040 gene 26220 DGCR5 ENSG00000273032 -618041 gene 29942 PURG ENSG00000172733 -618042 phenotype -618043 gene 5463 POU6F1 ENSG00000184271 -618044 gene 9847 C2CD5 ENSG00000111731 -618045 gene 220042 DDIAS ENSG00000165490 -618046 gene 8383 OR1A1 ENSG00000172146 -618047 gene 26189 OR1A2 ENSG00000172150 -618048 phenotype -618049 phenotype -618050 phenotype -618051 gene 55765 INAVA ENSG00000163362 -618052 phenotype -618053 gene 100996425 ARLNC1 ENSG00000260896 -618054 gene 23251 MINAR1 ENSG00000169330 -618055 gene 8804 CREG1 ENSG00000143162 -618056 phenotype -618057 phenotype -618058 gene 85016 CFAP300 ENSG00000137691 -618059 gene 79446 WDR25 ENSG00000176473 -618060 phenotype -618061 phenotype -618062 gene 10321 CRISP3 ENSG00000096006 -618063 phenotype -618064 gene 51241 COX16 ENSG00000133983 -618065 phenotype -618066 gene 100874362 HOXB-AS1 ENSG00000230148 -618067 phenotype -618068 gene 84654 SPZ1 ENSG00000164299 -618069 gene 246175 CNOT6L ENSG00000138767 -618070 gene 245973 ATP6V1C2 ENSG00000143882 -618071 gene 127124 ATP6V1G3 ENSG00000151418 -618072 gene 245972 ATP6V0D2 ENSG00000147614 -618073 gene 401474 SAMD12 ENSG00000177570 -618074 phenotype -618075 phenotype -618076 phenotype -618077 phenotype -618078 phenotype -618079 phenotype -618080 gene 57590 WDFY1 ENSG00000085449 -618081 gene 387597 ILDR2 ENSG00000143195 -618082 gene 55339 WDR33 ENSG00000136709 -618083 gene 51729 WBP11 ENSG00000084463 -618084 phenotype -618085 gene 83449 PMFBP1 ENSG00000118557 -618086 phenotype -618087 phenotype -618088 phenotype -618089 phenotype -618090 phenotype -618091 phenotype -618092 phenotype -618093 phenotype -618094 phenotype -618095 phenotype -618096 phenotype -618097 phenotype -618098 phenotype -618099 gene 79922 MRM1 ENSG00000278619 -618100 gene 255027 MPV17L ENSG00000156968 -618101 gene 64066 MMP27 ENSG00000137675 -618102 gene 375484 SIMC1 ENSG00000170085 -618103 phenotype -618104 gene 79258 MMEL1 ENSG00000142606 -618105 gene 284266 SIGLEC15 ENSG00000197046 -618106 phenotype -618107 phenotype -618108 phenotype -618109 phenotype -618110 phenotype -618111 gene 55734 ZFP64 ENSG00000020256 -618112 phenotype -618113 phenotype -618114 phenotype -618115 phenotype -618116 phenotype -618117 phenotype -618118 gene 256364 EML3 ENSG00000149499 -618119 gene 161436 EML5 ENSG00000165521 -618120 phenotype -618121 gene 10476 ATP5PD ENSG00000167863 -618122 gene 23517 MTREX ENSG00000039123 -618123 phenotype -618124 phenotype -618125 gene 147872 KASH5 ENSG00000161609 -618126 phenotype -618127 gene 125965 COX6B2 ENSG00000160471 -618128 gene 54834 GDAP2 ENSG00000196505 -618129 phenotype -618130 gene 54550 NECAB2 ENSG00000103154 -618131 phenotype -618132 gene 100049587 SIGLEC14 ENSG00000254415 -618133 gene 54827 NXPE4 ENSG00000137634 -618134 gene 257313 UTS2B ENSG00000188958 -618135 phenotype -618136 gene 9587 MAD2L1BP ENSG00000124688 -618137 gene 54069 MIS18A ENSG00000159055 -618138 phenotype -618139 gene 55320 MIS18BP1 ENSG00000129534 -618140 phenotype -618141 phenotype -618142 phenotype -618143 phenotype -618144 phenotype -618145 phenotype -618146 gene 144406 CFAP251 ENSG00000158023 -618147 phenotype -618148 phenotype -618149 phenotype -618150 phenotype -618151 gene 10665 TSBP1 ENSG00000204296 -618152 phenotype -618153 phenotype -618154 phenotype -618155 phenotype -618156 phenotype -618157 phenotype -618158 phenotype -618159 gene 129285 PPP1R21 ENSG00000162869 -618160 phenotype -618161 phenotype -618162 phenotype -618163 gene 9772 TMEM94 ENSG00000177728 -618164 phenotype -618165 phenotype -618166 gene 124817 CNTD1 ENSG00000176563 -618167 phenotype -618168 phenotype -618169 gene 100506421 PANTR1 ENSG00000233639 -618170 phenotype -618171 gene 55614 KIF16B ENSG00000089177 -618172 gene 100506895 LUARIS ENSG00000231638 -618173 phenotype -618174 phenotype -618175 phenotype -618176 phenotype -618177 phenotype -618178 phenotype -618179 phenotype -618180 phenotype -618181 gene 27107 ZBTB11 ENSG00000066422 -618182 phenotype -618183 phenotype -618184 phenotype -618185 phenotype -618186 phenotype -618187 phenotype -618188 phenotype -618189 phenotype -618190 gene 100505994 LUCAT1 ENSG00000248323 -618191 gene 90273 CEACAM21 ENSG00000007129 -618192 gene 100505495 PCAT19 ENSG00000267107 -618193 phenotype -618194 gene 284297 SSC5D ENSG00000179954 -618195 phenotype -618196 phenotype -618197 phenotype -618198 phenotype -618199 gene 29974 A1CF ENSG00000148584 -618200 gene 23195 MDN1 ENSG00000112159 -618201 phenotype -618202 gene 84277 DNAJC30 ENSG00000176410 -618203 gene 84899 TMTC4 ENSG00000125247 -618204 phenotype -618205 phenotype -618206 gene 23264 ZC3H7B ENSG00000100403 -618207 gene 23256 SCFD1 ENSG00000092108 -618208 gene 102682016 LINC01159 ENSG00000229743 -618209 gene 401022 HAGLR ENSG00000224189 -618210 gene 23180 RFTN1 ENSG00000131378 -618211 gene 10531 PITRM1 ENSG00000107959 -618212 gene 378805 LINC-PINT ENSG00000231721 -618213 phenotype -618214 gene 105379037 LINC01157 -618215 gene 130132 RFTN2 ENSG00000162944 -618216 gene 400931 MIRLET7BHG ENSG00000197182 -618217 gene 102725541 ELDR -618218 phenotype -618219 phenotype -618220 phenotype -618221 phenotype -618222 phenotype -618223 phenotype -618224 phenotype -618225 phenotype -618226 phenotype -618227 gene 115399 LRRC56 ENSG00000161328 -618228 phenotype -618229 phenotype -618230 phenotype -618231 phenotype -618232 phenotype -618233 phenotype -618234 phenotype -618235 phenotype -618236 phenotype -618237 phenotype -618238 phenotype -618239 phenotype -618240 phenotype -618241 phenotype -618242 phenotype -618243 phenotype -618244 phenotype -618245 phenotype -618246 phenotype -618247 phenotype -618248 phenotype -618249 phenotype -618250 phenotype -618251 phenotype -618252 phenotype -618253 phenotype -618254 phenotype -618255 gene 57462 MYORG ENSG00000164976 -618256 predominantly phenotypes -618257 phenotype -618258 gene 23478 SEC11A ENSG00000140612 -618259 gene 23434 LINC01565 ENSG00000198685 -618260 gene 57003 CCDC47 ENSG00000108588 -618261 phenotype -618262 gene 9586 CREB5 ENSG00000146592 -618263 gene 119395 CALHM3 ENSG00000183128 -618264 phenotype -618265 phenotype -618266 phenotype -618267 phenotype -618268 phenotype -618269 gene 84905 ZNF341 ENSG00000131061 -618270 phenotype -618271 gene 55176 SEC61A2 ENSG00000065665 -618272 phenotype -618273 phenotype -618274 gene 23398 PPWD1 ENSG00000113593 -618275 phenotype -618276 phenotype -618277 gene 374354 NHLRC2 ENSG00000196865 -618278 phenotype -618279 phenotype -618280 phenotype -618281 gene 340706 VWA2 ENSG00000165816 -618282 phenotype -618283 phenotype -618284 phenotype -618285 phenotype -618286 phenotype -618287 phenotype -618288 gene 56941 HMCES ENSG00000183624 -618289 gene 10807 ENTR1 ENSG00000165689 -618290 gene 197335 WDR90 ENSG00000161996 -618291 phenotype -618292 phenotype -618293 gene 402778 IFITM10 ENSG00000244242 -618294 gene 641649 TMEM91 ENSG00000142046 -618295 phenotype -618296 gene 387890 TMEM233 ENSG00000224982 -618297 gene 80863 PRRT1 ENSG00000204314 -618298 phenotype -618299 gene 29967 LRP12 ENSG00000147650 -618300 phenotype -618301 gene 23254 KAZN ENSG00000189337 -618302 phenotype -618303 gene 112464 CAVIN3 ENSG00000170955 -618304 gene 84074 QRICH2 ENSG00000129646 -618305 gene 84852 ATP1A1-AS1 ENSG00000203865 -618306 gene 80758 PRR7 ENSG00000131188 -618307 phenotype -618308 gene 161424 NOP9 ENSG00000196943 -618309 phenotype -618310 phenotype -618311 gene 23212 RRS1 ENSG00000179041 -618312 phenotype -618313 phenotype -618314 phenotype -618315 gene 11224 RPL35 ENSG00000136942 -618316 phenotype -618317 phenotype -618318 gene 90835 CFAP119 ENSG00000196118 -618319 gene 56980 PRDM10 ENSG00000170325 -618320 gene 30814 PLA2G2E ENSG00000188784 -618321 phenotype -618322 gene 84640 USP38 ENSG00000170185 -618323 phenotype -618324 phenotype -618325 phenotype -618326 gene 85364 ZCCHC3 ENSG00000247315 -618327 gene 57482 CRACD ENSG00000109265 -618328 phenotype -618329 phenotype -618330 phenotype -618331 phenotype -618332 phenotype -618333 phenotype -618334 gene 79415 CYBC1 ENSG00000178927 -618335 gene 100506305 LINC00958 ENSG00000251381 -618336 phenotype -618337 gene 83786 FRMD8 ENSG00000126391 -618338 gene 25840 METTL7A ENSG00000185432 -618339 phenotype -618340 gene 26952 SMR3A ENSG00000109208 -618341 phenotype -618342 phenotype -618343 phenotype -618344 gene 222171 PRR15 ENSG00000176532 -618345 phenotype -618346 phenotype -618347 phenotype -618348 phenotype -618349 phenotype -618350 gene 55262 TRAPPC14 ENSG00000146826 -618351 phenotype -618352 phenotype -618353 phenotype -618354 phenotype -618355 gene 84920 ALG10 ENSG00000139133 -618356 phenotype -618357 phenotype -618358 phenotype -618359 gene 10168 ZNF197 ENSG00000186448 -618360 phenotype -618361 gene 54935 DUSP23 ENSG00000158716 -618362 phenotype -618363 phenotype -618364 phenotype -618365 gene 84891 ZSCAN10 ENSG00000130182 -618366 gene 23355 VPS8 ENSG00000156931 -618367 phenotype -618368 gene 78986 DUSP26 ENSG00000133878 -618369 phenotype -618370 gene 374987 NEXN-AS1 ENSG00000235927 -618371 phenotype -618372 phenotype -618373 phenotype -618374 phenotype -618375 gene 729041 FAAHP1 -618376 gene 11098 PRSS23 ENSG00000150687 -618377 phenotype -618378 phenotype -618379 phenotype -618380 gene 81610 FAM83D ENSG00000101447 -618381 phenotype -618382 gene 84191 CIAO2A ENSG00000166797 -618383 phenotype -618384 phenotype -618385 gene 10486 CAP2 ENSG00000112186 -618386 phenotype -618387 phenotype -618388 phenotype -618389 phenotype -618390 gene 339479 BRINP3 ENSG00000162670 -618391 gene 89978 DPH6 ENSG00000134146 -618392 phenotype -618393 phenotype -618394 phenotype -618395 phenotype -618396 phenotype -618397 phenotype -618398 phenotype -618399 gene 55830 GLT8D1 ENSG00000016864 -618400 phenotype -618401 gene 340069 FAM170A ENSG00000164334 -618402 phenotype -618403 gene 79843 FAM124B ENSG00000124019 -618404 phenotype -618405 gene 100131827 ZNF717 ENSG00000227124 -618406 phenotype -618407 gene 55793 MINDY1 ENSG00000143409 -618408 gene 54629 MINDY2 ENSG00000128923 -618409 gene 51439 FAM8A1 ENSG00000137414 -618410 phenotype -618411 gene 117246 FTSJ3 ENSG00000108592 -618412 phenotype -618413 gene 317662 FAM149B1 ENSG00000138286 -618414 phenotype -618415 phenotype -618416 phenotype -618417 gene 101928601 MEI4 ENSG00000269964 -618418 phenotype -618419 phenotype -618420 phenotype -618421 gene 283677 REC114 ENSG00000183324 -618422 phenotype -618423 gene 256006 ANKRD31 ENSG00000145700 -618424 gene 84071 ARMC2 ENSG00000118690 -618425 phenotype -618426 phenotype -618427 gene 55248 PACC1 ENSG00000065600 -618428 moved/removed -618429 phenotype -618430 phenotype -618431 phenotype -618432 phenotype -618433 phenotype -618434 phenotype -618435 phenotype -618436 phenotype -618437 phenotype -618438 phenotype -618439 gene 85015 USP45 ENSG00000123552 -618440 phenotype -618441 gene 222487 ADGRG3 ENSG00000182885 -618442 gene 386617 KCTD8 ENSG00000183783 -618443 phenotype -618444 gene 55848 PLGRKT ENSG00000107020 -618445 gene 100126793 GHRLOS ENSG00000240288 -618446 gene 221914 GPC2 ENSG00000213420 -618447 phenotype -618448 gene 124274 GPR139 ENSG00000180269 -618449 phenotype -618450 gene 219790 RTKN2 ENSG00000182010 -618451 phenotype -618452 gene 55041 PLEKHB2 ENSG00000115762 -618453 phenotype -618454 phenotype -618455 gene 341208 HEPHL1 ENSG00000181333 -618456 phenotype -618457 phenotype -618459 phenotype -618460 phenotype -618461 gene 284184 NDUFAF8 ENSG00000224877 -618462 phenotype -618463 phenotype -618464 phenotype -618465 gene 65980 BRD9 ENSG00000028310 -618466 gene 55299 BRIX1 ENSG00000113460 -618467 gene 84250 SLF1 ENSG00000133302 -618468 phenotype -618469 phenotype -618470 phenotype -618471 gene 84154 RPF2 ENSG00000197498 -618472 gene 374569 ASPG ENSG00000166183 -618473 gene 84285 EIF1AD ENSG00000175376 -618474 gene 51398 WDR83OS ENSG00000105583 -618475 phenotype -618476 phenotype -618477 phenotype -618478 gene 199920 FYB2 ENSG00000187889 -618479 phenotype -618480 phenotype -618481 phenotype -618482 phenotype -618483 gene 3993 LLGL2 ENSG00000073350 -618484 phenotype -618485 gene 100874345 ZBTB40-IT1 -618486 gene 79887 PLBD1 ENSG00000121316 -618487 gene 134391 GPR151 ENSG00000173250 -618488 gene 122618 PLD4 ENSG00000166428 -618489 gene 29117 BRD7 ENSG00000166164 -618490 gene 57720 GPR107 ENSG00000148358 -618491 gene 56927 GPR108 ENSG00000125734 -618492 phenotype -618493 phenotype -618494 phenotype -618495 phenotype -618496 phenotype -618497 phenotype -618498 phenotype -618499 phenotype -618500 phenotype -618501 phenotype -618502 gene 23506 BICRAL ENSG00000112624 -618503 gene 143888 POGLUT3 ENSG00000178202 -618504 phenotype -618505 phenotype -618506 phenotype -618507 gene 105372576 WAKMAR1 -618508 gene 100130476 WAKMAR2 ENSG00000237499 -618509 gene 391196 OR2M7 ENSG00000177186 -618510 gene 391475 DYTN ENSG00000232125 -618511 phenotype -618512 phenotype -618513 phenotype -618514 gene 84312 BRMS1L ENSG00000100916 -618515 gene 55161 TMEM33 ENSG00000109133 -618516 gene 401994 OR14I1 ENSG00000189181 -618517 gene 10218 ANGPTL7 ENSG00000171819 -618518 gene 140828 LINC00261 ENSG00000259974 -618519 gene 388969 C2orf68 ENSG00000168887 -618520 gene 285588 EFCAB9 ENSG00000214360 -618521 gene 25852 ARMC8 ENSG00000114098 -618522 phenotype -618523 phenotype -618524 phenotype -618525 gene 80125 CCDC33 ENSG00000140481 -618526 gene 374872 PEAK3 ENSG00000188305 -618527 phenotype -618528 phenotype -618529 phenotype -618530 gene 169436 STKLD1 ENSG00000198870 -618531 phenotype -618532 gene 11129 CLASRP ENSG00000104859 -618533 phenotype -618534 phenotype -618535 phenotype -618536 gene 58509 CACTIN ENSG00000105298 -618537 gene 60370 AVPI1 ENSG00000119986 -618538 gene 25927 CNRIP1 ENSG00000119865 -618539 gene 10523 CHERP ENSG00000085872 -618540 gene 200407 CREG2 ENSG00000175874 -618541 phenotype -618542 gene 285282 RABL3 ENSG00000144840 -618543 gene 54777 CFAP46 ENSG00000171811 -618544 gene 80345 ZSCAN16 ENSG00000196812 -618545 gene 134266 GRPEL2 ENSG00000164284 -618546 phenotype -618547 phenotype -618548 phenotype -618549 phenotype -618550 phenotype -618551 gene 54627 MAP10 ENSG00000212916 -618552 gene 11092 SPACA9 ENSG00000165698 -618553 gene 107985249 BMNCR -618554 gene 7637 ZNF84 ENSG00000198040 -618555 phenotype -618556 gene 375704 ENHO ENSG00000168913 -618557 phenotype -618558 gene 63940 GPSM3 ENSG00000213654 -618559 phenotype -618560 gene 338707 B4GALNT4 ENSG00000182272 -618561 gene 80157 CWH43 ENSG00000109182 -618562 gene 113419 TEX261 ENSG00000144043 -618563 gene 201780 SLC10A4 ENSG00000145248 -618564 phenotype -618565 gene 341567 H1-7 ENSG00000187166 -618566 gene 65990 ANTKMT ENSG00000103254 -618567 phenotype -618568 gene 134145 ATPSCKMT ENSG00000150756 -618569 phenotype -618570 gene 131405 TRIM71 ENSG00000206557 -618571 phenotype -618572 phenotype -618573 phenotype -618574 gene 338599 DUSP29 ENSG00000188716 -618575 gene 101927746 EMSLR -618576 gene 65986 ZBTB10 ENSG00000205189 -618577 phenotype -618578 phenotype -618579 gene 27109 DMAC2L ENSG00000125375 -618580 phenotype -618581 gene 340120 ANKRD34B ENSG00000189127 -618582 gene 347051 SLC10A5 ENSG00000253598 -618583 gene 51250 MTRES1 ENSG00000130349 -618584 gene 347736 NME9 ENSG00000181322 -618585 gene 79714 CCDC51 ENSG00000164051 -618586 gene 22884 WDR37 ENSG00000047056 -618587 phenotype -618588 gene 204474 PDILT ENSG00000169340 -618589 gene 200504 GKN2 ENSG00000183607 -618590 phenotype -618591 phenotype -618592 gene 154214 RNF217 ENSG00000146373 -618593 gene 57541 ZNF398 ENSG00000197024 -618594 phenotype -618595 gene 10970 CKAP4 ENSG00000136026 -618596 phenotype -618597 gene 57596 BEGAIN ENSG00000183092 -618598 phenotype -618599 gene 64403 CDH24 ENSG00000139880 -618600 gene 85438 CABS1 ENSG00000145309 -618601 gene 64789 EXO5 ENSG00000164002 -618602 gene 203102 ADAM32 ENSG00000197140 -618603 phenotype -618604 phenotype -618605 gene 122416 ANKRD9 ENSG00000156381 -618606 phenotype -618607 gene 374887 YJEFN3 ENSG00000250067 -618608 phenotype -618609 gene 51409 HEMK1 ENSG00000114735 -618610 gene 79618 HMBOX1 ENSG00000147421 -618611 gene 78995 HROB ENSG00000125319 -618612 phenotype -618613 phenotype -618614 gene 220082 CBY2 ENSG00000174015 -618615 gene 100859930 HEIH ENSG00000278970 -618616 gene 225689 MAPK15 ENSG00000181085 -618617 gene 10467 ZNHIT1 ENSG00000106400 -618618 phenotype -618619 phenotype -618620 phenotype -618621 gene 51201 ZDHHC2 ENSG00000104219 -618622 phenotype -618623 gene 25994 HIGD1A ENSG00000181061 -618624 phenotype -618625 phenotype -618626 gene 63935 PCIF1 ENSG00000100982 -618627 gene 64395 GMCL1 ENSG00000087338 -618628 gene 29081 METTL5 ENSG00000138382 -618629 gene 64396 GMCL2 ENSG00000244234 -618630 gene 51504 TRMT112 ENSG00000173113 -618631 gene 55051 NRDE2 ENSG00000119720 -618632 phenotype -618633 gene 6527 SLC5A4 ENSG00000100191 -618634 gene 220107 DLEU7 ENSG00000186047 -618635 phenotype -618636 gene 125206 SLC5A10 ENSG00000154025 -618637 phenotype -618638 gene 79654 HECTD3 ENSG00000126107 -618639 gene 101060691 NUTM2B-AS1 ENSG00000225484 -618640 gene 23144 ZC3H3 ENSG00000014164 -618641 phenotype -618642 gene 57630 SH3RF1 ENSG00000154447 -618643 phenotype -618644 phenotype -618645 gene 57649 PHF12 ENSG00000109118 -618646 phenotype -618647 gene 114898 C1QTNF2 ENSG00000145861 -618648 phenotype -618649 gene 25831 HECTD1 ENSG00000092148 -618650 gene 254225 RNF169 ENSG00000166439 -618651 phenotype -618652 phenotype -618653 phenotype -618654 phenotype -618655 phenotype -618656 gene 105371045 PERCC1 ENSG00000284395 -618657 gene 113251 LARP4 ENSG00000161813 -618658 phenotype -618659 phenotype -618660 phenotype -618661 gene 118491 CFAP70 ENSG00000156042 -618662 phenotype -618663 phenotype -618664 phenotype -618665 phenotype -618666 phenotype -618667 phenotype -618668 gene 200959 GABRR3 ENSG00000183185 -618669 gene 253943 YTHDF3 ENSG00000185728 -618670 phenotype -618671 gene 131540 ZDHHC19 ENSG00000163958 -618672 phenotype -618673 gene 79699 ZYG11B ENSG00000162378 -618674 phenotype -618675 gene 440590 ZYG11A ENSG00000203995 -618676 gene 23099 ZBTB43 ENSG00000169155 -618677 phenotype -618678 gene 221223 CES5A ENSG00000159398 -618679 gene 64096 GFRA4 ENSG00000125861 -618680 phenotype -618681 phenotype -618682 gene 127003 CFAP276 ENSG00000179902 -618683 phenotype -618685 gene 9725 TMEM63A ENSG00000196187 -618686 gene 146279 TEKT5 ENSG00000153060 -618687 phenotype -618688 phenotype -618689 gene 84628 NTNG2 ENSG00000196358 -618690 gene 100130889 PSORS1C3 -618691 gene 123591 TMEM266 ENSG00000169758 -618692 gene 9686 VGLL4 ENSG00000144560 -618693 gene 10136 CELA3A ENSG00000142789 -618694 gene 23436 CELA3B ENSG00000219073 -618695 phenotype -618696 gene 100507003 GFY ENSG00000261949 -618697 phenotype -618698 gene 100033411 DUXB ENSG00000282757 -618699 phenotype -618700 gene 105371346 CPHXL ENSG00000283755 -618701 gene 342900 LEUTX ENSG00000213921 -618702 phenotype -618703 gene 23528 ZNF281 ENSG00000162702 -618704 gene 200373 CFAP221 ENSG00000163075 -618705 gene 54799 MBTD1 ENSG00000011258 -618706 gene 100133311 HOXA-AS3 ENSG00000254369 -618707 phenotype -618708 gene 10230 NBR2 ENSG00000198496 -618709 phenotype -618710 gene 56902 PNO1 ENSG00000115946 -618711 gene 196074 METTL15 ENSG00000169519 -618712 gene 339416 ANKRD45 ENSG00000183831 -618713 gene 192668 CYS1 ENSG00000205795 -618714 gene 23108 RAP1GAP2 ENSG00000132359 -618715 gene 64429 ZDHHC6 ENSG00000023041 -618716 gene 89849 ATG16L2 ENSG00000168010 -618717 gene 255324 EPGN ENSG00000182585 -618718 phenotype -618719 phenotype -618720 gene 64146 PDF ENSG00000258429 -618721 phenotype -618722 gene 116151 FAM210B ENSG00000124098 -618723 phenotype -618724 phenotype -618725 phenotype -618726 gene 152110 NEK10 ENSG00000163491 -618727 phenotype -618728 phenotype -618729 phenotype -618730 phenotype -618731 phenotype -618732 phenotype -618733 phenotype -618734 phenotype -618735 gene 83894 TTC29 ENSG00000137473 -618736 phenotype -618737 phenotype -618738 gene 9654 TTLL4 ENSG00000135912 -618739 gene 51496 CTDSPL2 ENSG00000137770 -618740 gene 645811 CCDC154 ENSG00000197599 -618741 phenotype -618742 gene 653121 ZBTB8A ENSG00000160062 -618743 gene 84814 PLPP7 ENSG00000160539 -618744 phenotype -618745 phenotype -618746 gene 613212 CTXN3 ENSG00000205279 -618747 gene 10485 MIR9-1HG ENSG00000125462 -618748 phenotype -618749 gene 10234 LRRC17 ENSG00000128606 -618750 gene 29777 ABT1 ENSG00000146109 -618751 phenotype -618752 phenotype -618753 gene 10489 LRRC41 ENSG00000132128 -618754 gene 10404 CPQ ENSG00000104324 -618755 gene 647087 STMP1 ENSG00000243317 -618756 gene 55347 ABHD10 ENSG00000144827 -618757 gene 220002 CYB561A3 ENSG00000162144 -618758 gene 83450 DRC3 ENSG00000171962 -618759 gene 164633 CABP7 ENSG00000100314 -618760 phenotype -618761 phenotype -618762 gene 10591 DNPH1 ENSG00000112667 -618763 phenotype -618764 gene 143384 CACUL1 ENSG00000151893 -618765 gene 51575 ESF1 ENSG00000089048 -618766 phenotype -618767 phenotype -618768 phenotype -618769 gene 84229 DRC7 ENSG00000159625 -618770 phenotype -618771 gene 25864 ABHD14A ENSG00000248487 -618772 gene 81928 CABLES2 ENSG00000149679 -618773 phenotype -618774 phenotype -618775 phenotype -618776 phenotype -618777 gene 388743 CAPN8 ENSG00000203697 -618778 phenotype -618779 phenotype -618780 phenotype -618781 phenotype -618782 phenotype -618783 gene 10983 CCNI ENSG00000118816 -618784 gene 57095 PITHD1 ENSG00000057757 -618785 gene 157313 CDCA2 ENSG00000184661 -618786 phenotype -618787 phenotype -618788 gene 79879 CCDC134 ENSG00000100147 -618789 gene 55573 CDV3 ENSG00000091527 -618790 gene 283219 KCTD21 ENSG00000188997 -618791 gene 200845 KCTD6 ENSG00000168301 -618792 phenotype -618793 phenotype -618794 gene 9920 KBTBD11 ENSG00000176595 -618795 phenotype -618796 gene 29901 SAC3D1 ENSG00000168061 -618797 phenotype -618798 phenotype -618799 gene 133690 CAPSL ENSG00000152611 -618800 phenotype -618801 phenotype -618802 gene 54974 THG1L ENSG00000113272 -618803 phenotype -618804 phenotype -618805 phenotype -618806 phenotype -618807 phenotype -618808 phenotype -618809 gene 101928527 PIGBOS1 ENSG00000225973 -618810 phenotype -618811 phenotype -618812 gene 728568 C12orf73 ENSG00000204954 -618813 gene 79739 TTLL7 ENSG00000137941 -618814 gene 100431172 KLRF2 ENSG00000256797 -618815 phenotype -618816 gene 124359 CDYL2 ENSG00000166446 -618817 gene 8834 TMEM11 ENSG00000178307 -618818 gene 54985 HCFC1R1 ENSG00000103145 -618819 gene 57326 PBXIP1 ENSG00000163346 -618820 phenotype -618821 phenotype -618822 phenotype -618823 phenotype -618824 phenotype -618825 phenotype -618826 phenotype -618827 phenotype -618828 phenotype -618829 phenotype -618830 phenotype -618831 gene 140738 TMEM37 ENSG00000171227 -618832 phenotype -618833 gene 57148 RALGAPB ENSG00000170471 -618834 gene 389541 LAMTOR4 ENSG00000188186 -618835 phenotype -618836 gene 57186 RALGAPA2 ENSG00000188559 -618837 gene 9741 LAPTM4A ENSG00000068697 -618838 phenotype -618839 phenotype -618840 phenotype -618841 phenotype -618842 gene 150280 HORMAD2 ENSG00000176635 -618843 gene 143903 LAYN ENSG00000204381 -618844 gene 84456 L3MBTL3 ENSG00000198945 -618845 phenotype -618846 phenotype -618847 phenotype -618848 phenotype -618849 phenotype -618850 phenotype -618851 phenotype -618852 phenotype -618853 phenotype -618854 gene 60559 SPCS3 ENSG00000129128 -618855 phenotype -618856 phenotype -618857 phenotype -618858 phenotype -618859 phenotype -618860 gene 127795 C1orf87 ENSG00000162598 -618861 gene 402665 IGLON5 ENSG00000142549 -618862 phenotype -618863 phenotype -618864 gene 84798 C19orf48 ENSG00000167747 -618865 gene 387119 CEP85L ENSG00000111860 -618866 phenotype -618867 gene 54509 RHOF ENSG00000139725 -618868 phenotype -618869 gene 255488 RNF144B ENSG00000137393 -618870 phenotype -618871 gene 27237 ARHGEF16 ENSG00000130762 -618872 phenotype -618873 phenotype -618874 phenotype -618875 phenotype -618876 phenotype -618877 phenotype -618878 phenotype -618879 phenotype -618880 phenotype -618881 phenotype -618882 phenotype -618883 phenotype -618884 phenotype -618885 phenotype -618886 phenotype -618887 gene 84807 NFKBID ENSG00000167604 -618888 gene 57091 CASS4 ENSG00000087589 -618889 phenotype -618890 phenotype -618891 phenotype -618892 phenotype -618893 gene 140688 NOL4L ENSG00000197183 -618894 gene 140823 ROMO1 ENSG00000125995 -618895 gene 126123 IZUMO2 ENSG00000161652 -618896 gene 100129669 IZUMO3 ENSG00000205442 -618897 gene 113177 IZUMO4 ENSG00000099840 -618898 gene 64793 CEP85 ENSG00000130695 -618899 gene 23324 MAN2B2 ENSG00000013288 -618900 gene 55063 ZCWPW1 ENSG00000078487 -618901 phenotype -618902 gene 339175 METTL2A ENSG00000087995 -618903 gene 131965 METTL6 ENSG00000206562 -618904 gene 55152 DALRD3 ENSG00000178149 -618905 phenotype -618906 phenotype -618907 phenotype -618908 phenotype -618909 gene 80895 ILKAP ENSG00000132323 -618910 phenotype -618911 gene 146378 C16orf92 ENSG00000167194 -618912 phenotype -618913 phenotype -618914 phenotype -618915 phenotype -618916 phenotype -618917 phenotype -618918 phenotype -618919 gene 57542 KLHL42 ENSG00000087448 -618920 phenotype -618921 gene 51110 LACTB2 ENSG00000147592 -618922 phenotype -618923 gene 646486 FABP12 ENSG00000197416 -618924 phenotype -618925 gene 29909 GPR171 ENSG00000174946 -618926 gene 4958 OMD ENSG00000127083 -618927 gene 643803 KRTAP24-1 ENSG00000188694 -618928 gene 160287 LDHAL6A ENSG00000166800 -618929 phenotype -618930 gene 441459 ANKRD18B ENSG00000230453 -618931 gene 57169 ZNFX1 ENSG00000124201 -618932 gene 100128731 OST4 ENSG00000228474 -618933 gene 344558 SH3RF3 ENSG00000172985 -618934 gene 401145 CCSER1 ENSG00000184305 -618935 phenotype -618936 gene 128497 SPATA25 ENSG00000149634 -618937 gene 221908 PPP1R35 ENSG00000160813 -618938 gene 105376382 LASTR ENSG00000242147 -618939 phenotype -618940 phenotype -618941 gene 90416 CCDC32 ENSG00000128891 -618942 gene 642574 IQANK1 ENSG00000203499 -618943 gene 319103 SNORD8 ENSG00000200785 -618944 phenotype -618945 gene 147650 SPACA6 ENSG00000182310 -618946 gene 135927 LLCFC1 ENSG00000165131 -618947 phenotype -618948 phenotype -618949 gene 284716 RIMKLA ENSG00000177181 -618950 phenotype -618951 phenotype -618952 phenotype -618953 gene 199974 CYP4Z1 ENSG00000186160 -618954 predominantly phenotypes 163720 CYP4Z2P ENSG00000154198 -618955 phenotype -618956 gene 121268 RHEBL1 ENSG00000167550 -618957 gene 84079 ANKRD27 ENSG00000105186 -618958 phenotype -618959 phenotype -618960 phenotype -618961 phenotype -618962 gene 341277 OVCH2 ENSG00000183378 -618963 phenotype -618964 gene 64795 RMND5A ENSG00000153561 -618965 gene 10548 TM9SF1 ENSG00000100926 -618966 gene 54929 TMEM161A ENSG00000064545 -618967 gene 55324 ABCF3 ENSG00000161204 -618968 gene 388649 C1orf146 ENSG00000203910 -618969 phenotype -618970 phenotype -618971 phenotype -618972 phenotype -618973 phenotype -618974 phenotype -618975 phenotype -618976 gene 105373853 MYOSLID ENSG00000229647 -618977 phenotype -618978 gene 81615 TMEM163 ENSG00000152128 -618979 phenotype -618980 gene 201134 CEP112 ENSG00000154240 -618981 gene 57020 VPS35L ENSG00000103544 -618982 phenotype -618983 phenotype -618984 gene 256979 SUN3 ENSG00000164744 -618985 phenotype -618986 phenotype -618987 phenotype -618988 gene 645104 CLRN2 ENSG00000249581 -618989 gene 338773 TMEM119 ENSG00000183160 -618990 gene 84141 EVA1A ENSG00000115363 -618991 gene 57715 SEMA4G ENSG00000095539 -618992 phenotype -618993 gene 727800 RNF208 ENSG00000212864 -618994 gene 84842 HPDL ENSG00000186603 -618995 gene 60467 BPESC1 ENSG00000232416 -618996 gene 116135 LRRC3B ENSG00000179796 -618997 gene 81602 CDADC1 ENSG00000102543 -618998 phenotype -618999 phenotype -619000 phenotype -619001 gene 90806 ANGEL2 ENSG00000174606 -619002 gene 474354 LRRC18 ENSG00000165383 -619003 phenotype -619004 phenotype -619005 phenotype -619006 gene 54841 BIVM ENSG00000134897 -619007 phenotype -619008 gene 646982 LINC00598 ENSG00000215483 -619009 phenotype -619010 gene 56970 ATXN7L3 ENSG00000087152 -619011 phenotype -619012 phenotype -619013 phenotype -619014 gene 91875 TTC5 ENSG00000136319 -619015 gene 56943 ENY2 ENSG00000120533 -619016 phenotype -619017 gene 162494 RHBDL3 ENSG00000141314 -619018 gene 407030 MIR30B ENSG00000207582 -619019 gene 407033 MIR30D ENSG00000199153 -619020 gene 55805 LRP2BP ENSG00000109771 -619021 gene 353322 ANKRD37 ENSG00000186352 -619022 gene 161145 TMEM229B ENSG00000198133 -619023 gene 58505 OSTC ENSG00000198856 -619024 phenotype -619025 phenotype -619026 phenotype -619027 phenotype -619028 phenotype -619029 gene 200185 KRTCAP2 ENSG00000163463 -619030 phenotype -619031 phenotype -619032 gene 57333 RCN3 ENSG00000142552 -619033 phenotype -619034 gene 348093 RBPMS2 ENSG00000166831 -619035 gene 407025 MIR29B2 ENSG00000284203 -619036 phenotype -619037 gene 151827 LRRC34 ENSG00000171757 -619038 gene 90853 SPOCD1 ENSG00000134668 -619039 gene 29803 REPIN1 ENSG00000214022 -619040 phenotype -619041 phenotype -619042 phenotype -619043 gene 64768 IPPK ENSG00000127080 -619044 phenotype -619045 gene 253190 SERHL2 ENSG00000183569 -619046 phenotype -619047 gene 220004 PPP1R32 ENSG00000162148 -619048 phenotype -619049 gene 157695 TDRP ENSG00000180190 -619050 gene 54511 HMGCLL1 ENSG00000146151 -619051 phenotype -619052 phenotype -619053 phenotype -619054 phenotype -619055 phenotype -619056 phenotype -619057 phenotype -619058 phenotype -619059 phenotype -619060 phenotype -619061 phenotype -619062 phenotype -619063 phenotype -619064 phenotype -619065 phenotype -619066 gene 55205 ZNF532 ENSG00000074657 -619067 gene 83693 HSDL1 ENSG00000103160 -619068 gene 64922 LRRC19 ENSG00000184434 -619069 gene 115572 TENT5B ENSG00000158246 -619070 gene 25875 LETMD1 ENSG00000050426 -619071 phenotype -619072 phenotype -619073 phenotype -619074 phenotype -619075 phenotype -619076 phenotype -619077 gene 22824 HSPA4L ENSG00000164070 -619078 gene 55175 KLHL11 ENSG00000178502 -619079 phenotype -619080 phenotype -619081 phenotype -619082 phenotype -619083 phenotype -619084 gene 220359 TIGD3 ENSG00000173825 -619085 gene 101928062 PRANCR ENSG00000257815 -619086 phenotype -619087 phenotype -619088 gene 389643 NUGGC ENSG00000189233 -619089 gene 54810 GIPC2 ENSG00000137960 -619090 phenotype -619091 phenotype -619092 phenotype -619093 phenotype -619094 phenotype -619095 phenotype -619096 phenotype -619097 phenotype -619098 gene 130951 M1AP ENSG00000159374 -619099 phenotype -619100 gene 55246 CCDC25 ENSG00000147419 -619101 phenotype -619102 phenotype -619103 phenotype -619104 gene 54502 RBM47 ENSG00000163694 -619105 gene 407034 MIR30E ENSG00000198974 -619106 gene 100874032 PRRT3-AS1 ENSG00000230082 -619107 gene 257364 SNX33 ENSG00000173548 -619108 phenotype -619109 gene 90522 YIF1B ENSG00000167645 -619110 phenotype -619111 phenotype -619112 phenotype -619113 phenotype -619114 gene 10322 SMYD5 ENSG00000135632 -619115 phenotype -619116 gene 55334 SLC39A9 ENSG00000029364 -619117 gene 339231 ARL16 ENSG00000214087 -619118 gene 57130 ATP13A1 ENSG00000105726 -619119 gene 344905 ATP13A5 ENSG00000187527 -619120 phenotype -619121 phenotype -619122 phenotype -619123 phenotype -619124 phenotype -619125 phenotype -619126 phenotype -619127 phenotype -619128 gene 81888 HYI ENSG00000178922 -619129 gene 159686 CFAP58 ENSG00000120051 -619130 phenotype -619131 phenotype -619132 phenotype -619133 phenotype -619134 gene 114826 SMYD4 ENSG00000186532 -619135 phenotype -619136 gene 219855 SLC37A2 ENSG00000134955 -619137 gene 84255 SLC37A3 ENSG00000157800 -619138 gene 9683 N4BP1 ENSG00000102921 -619139 gene 55728 N4BP2 ENSG00000078177 -619140 gene 23138 N4BP3 ENSG00000145911 -619141 phenotype -619142 phenotype -619143 phenotype -619144 phenotype -619145 phenotype -619146 phenotype -619147 phenotype -619148 phenotype -619149 phenotype -619150 phenotype -619151 phenotype -619152 gene 23102 TBC1D2B ENSG00000167202 -619153 gene 92014 SLC25A51 ENSG00000122696 -619154 gene 57470 LRRC47 ENSG00000130764 -619155 phenotype -619156 gene 79819 DNAI4 ENSG00000152763 -619157 phenotype -619158 gene 113791 PIK3IP1 ENSG00000100100 -619159 gene 1089 CEACAM4 ENSG00000105352 -619160 gene 1087 CEACAM7 ENSG00000007306 -619161 phenotype -619162 gene 55810 FOXJ2 ENSG00000065970 -619163 gene 55819 RNF130 ENSG00000113269 -619164 phenotype -619165 phenotype -619166 phenotype -619167 phenotype -619168 gene 79073 TMEM109 ENSG00000110108 -619169 gene 23560 GTPBP4 ENSG00000107937 -619170 phenotype -619171 gene 83606 GUCD1 ENSG00000138867 -619172 phenotype -619173 phenotype -619174 phenotype -619175 phenotype -619176 phenotype -619177 phenotype -619178 phenotype -619179 phenotype -619180 phenotype -619181 gene 283635 FAM177A1 ENSG00000151327 -619182 phenotype -619183 phenotype -619184 phenotype -619185 phenotype -619186 gene 389072 PLEKHM3 ENSG00000178385 -619187 gene 402635 GRIFIN ENSG00000275572 -619188 phenotype -619189 phenotype -619190 gene 339834 IHO1 ENSG00000173421 -619191 phenotype -619192 gene 84138 SLC7A6OS ENSG00000103061 -619193 gene 164714 TTLL8 ENSG00000138892 -619194 phenotype -619195 gene 26140 TTLL3 ENSG00000214021 -619196 phenotype -619197 gene 51386 EIF3L ENSG00000100129 -619198 gene 135154 SDHAF4 ENSG00000154079 -619199 phenotype -619200 gene 90203 SNX21 ENSG00000124104 -619201 phenotype -619202 phenotype -619203 phenotype -619204 gene 51388 NIP7 ENSG00000132603 -619205 gene 27069 GHITM ENSG00000165678 -619206 gene 29970 SCHIP1 ENSG00000151967 -619207 gene 54891 INO80D ENSG00000114933 -619208 phenotype -619209 phenotype -619210 gene 64711 HS3ST6 ENSG00000162040 -619211 gene 51440 HPCAL4 ENSG00000116983 -619212 gene 104472848 IRAIN -619213 gene 23053 ZSWIM8 ENSG00000214655 -619214 gene 51193 ZNF639 ENSG00000121864 -619215 phenotype -619216 phenotype -619217 phenotype -619218 phenotype -619219 gene 205327 C2orf69 ENSG00000178074 -619220 phenotype -619221 phenotype -619222 gene 286205 SCAI ENSG00000173611 -619223 phenotype -619224 phenotype -619225 gene 23521 RPL13A ENSG00000142541 -619226 phenotype -619227 phenotype -619228 phenotype -619229 phenotype -619230 gene 100316904 SAP25 ENSG00000205307 -619231 gene 55095 SAMD4B ENSG00000179134 -619232 phenotype -619233 gene 201191 SAMD14 ENSG00000167100 -619234 phenotype -619235 gene 54913 RPP25 ENSG00000178718 -619236 gene 9729 KIAA0408 ENSG00000189367 -619237 gene 9778 KIAA0232 ENSG00000170871 -619238 phenotype -619239 phenotype -619240 gene 390637 GDPGP1 ENSG00000183208 -619241 gene 90861 JPT2 ENSG00000206053 -619242 gene 51155 JPT1 ENSG00000189159 -619243 phenotype -619244 phenotype -619245 phenotype -619246 gene 80763 SPX ENSG00000134548 -619247 gene 221150 SKA3 ENSG00000165480 -619248 phenotype -619249 gene 55088 CCDC186 ENSG00000165813 -619250 gene 146923 RUNDC1 ENSG00000198863 -619251 gene 284382 ACTL9 ENSG00000181786 -619252 gene 9689 BZW1 ENSG00000082153 -619253 gene 9671 WSCD2 ENSG00000075035 -619254 gene 7565 ZNF17 ENSG00000186272 -619255 phenotype -619256 phenotype -619257 gene 120766137 HRURF ENSG00000288677 -619258 phenotype -619259 phenotype -619260 phenotype -619261 gene 200634 KRTCAP3 ENSG00000157992 -619262 gene 339451 KLHL17 ENSG00000187961 -619263 phenotype -619264 phenotype -619265 gene 84851 TRIM52 ENSG00000183718 -619266 gene 100507602 TRIM52-AS1 ENSG00000248275 -619267 phenotype -619268 phenotype -619269 phenotype -619270 gene 119710 IFTAP ENSG00000166352 -619271 phenotype -619272 phenotype -619273 phenotype -619274 phenotype -619275 gene 28969 BZW2 ENSG00000136261 -619276 gene 79173 BRME1 ENSG00000132016 -619277 gene 128602 C20orf85 ENSG00000124237 -619278 phenotype -619279 phenotype -619280 gene 29080 CCDC59 ENSG00000133773 -619281 phenotype -619282 gene 9715 FAM131B ENSG00000159784 -619283 gene 22838 RNF44 ENSG00000146083 -619284 gene 23217 ZFR2 ENSG00000105278 -619285 gene 219854 TMEM218 ENSG00000150433 -619286 phenotype -619287 gene 285331 CCDC66 ENSG00000180376 -619288 gene 26112 CCDC69 ENSG00000198624 -619289 gene 80829 ZFP91 ENSG00000186660 -619290 phenotype -619291 phenotype -619292 gene 9605 VPS9D1 ENSG00000075399 -619293 phenotype -619294 gene 116496 NIBAN1 ENSG00000135842 -619295 gene 79683 ZDHHC14 ENSG00000175048 -619296 gene 100506797 THORLNC ENSG00000226856 -619297 phenotype -619298 gene 27153 ZNF777 ENSG00000196453 -619299 gene 9726 ZNF646 ENSG00000167395 -619300 gene 84124 ZNF394 ENSG00000160908 -619301 phenotype -619302 phenotype -619303 phenotype -619304 phenotype -619305 gene 123036 TC2N ENSG00000165929 -619306 phenotype -619307 gene 57380 MRS2 ENSG00000124532 -619308 gene 22843 PPM1E ENSG00000175175 -619309 gene 9647 PPM1F ENSG00000100034 -619310 phenotype -619311 phenotype -619312 phenotype -619313 phenotype -619314 phenotype -619315 gene 728661 SLC35E2B ENSG00000189339 -619316 gene 9881 TRANK1 ENSG00000168016 -619317 phenotype -619318 phenotype -619319 phenotype -619320 phenotype -619321 phenotype -619322 phenotype -619323 phenotype -619324 phenotype -619325 phenotype -619326 phenotype -619327 gene 131578 LRRC15 ENSG00000172061 -619328 phenotype -619329 phenotype -619330 gene 9797 TATDN2 ENSG00000157014 -619331 gene 57707 MEAK7 ENSG00000140950 -619332 gene 26175 TMEM251 ENSG00000153485 -619333 phenotype -619334 phenotype -619335 gene 9710 GARRE1 ENSG00000166398 -619336 gene 345778 MTX3 ENSG00000177034 -619337 gene 129521 NMS ENSG00000204640 -619338 phenotype -619339 phenotype -619340 phenotype -619341 gene 9867 PJA2 ENSG00000198961 -619342 gene 58986 PGAP6 ENSG00000129925 -619343 phenotype -619344 gene 126006 PCP2 ENSG00000174788 -619345 phenotype -619346 gene 161823 ADAL ENSG00000168803 -619347 gene 257236 CCDC96 ENSG00000173013 -619348 gene 126549 ANKLE1 ENSG00000160117 -619349 gene 150678 COPS9 ENSG00000172428 -619350 phenotype -619351 phenotype -619352 phenotype -619353 gene 117583 PARD3B ENSG00000116117 -619354 phenotype -619355 phenotype -619356 phenotype -619357 gene 102157402 AK6 ENSG00000085231 -619358 gene 23281 MTUS2 ENSG00000132938 -619359 gene 57795 BRINP2 ENSG00000198797 -619360 phenotype -619361 phenotype -619362 phenotype -619363 phenotype -619364 gene 83940 TATDN1 ENSG00000147687 -619365 phenotype -619366 phenotype -619367 phenotype -619368 gene 9684 LRRC14 ENSG00000160959 -619369 phenotype -619370 gene 22889 KHDC4 ENSG00000132680 -619371 phenotype -619372 gene 9816 URB2 ENSG00000135763 -619373 phenotype -619374 phenotype -619375 phenotype -619376 phenotype -619377 phenotype -619378 gene 677814 SNORA31 ENSG00000199477 -619379 phenotype -619380 phenotype -619381 phenotype -619382 phenotype -619383 phenotype -619384 gene 9880 ZBTB39 ENSG00000166860 -619385 gene 22869 ZNF510 ENSG00000081386 -619386 phenotype -619387 gene 375307 CATIP ENSG00000158428 -619388 gene 55761 TTC17 ENSG00000052841 -619389 phenotype -619390 gene 57642 COL20A1 ENSG00000101203 -619391 gene 550631 CCDC157 ENSG00000187860 -619392 gene 400258 C14orf180 ENSG00000184601 -619393 gene 25948 KBTBD2 ENSG00000170852 -619394 gene 84869 CBR4 ENSG00000145439 -619395 gene 50804 MYEF2 ENSG00000104177 -619396 phenotype -619397 gene 7542 ZFPL1 ENSG00000162300 -619398 phenotype -619399 gene 90139 TSPAN18 ENSG00000157570 -619400 phenotype -619401 phenotype -619402 phenotype -619403 gene 101805488 CCAT2 ENSG00000280997 -619404 gene 55006 TRMT61B ENSG00000171103 -619405 phenotype -619406 phenotype -619407 phenotype -619408 gene 201292 TRIM65 ENSG00000141569 -619409 gene 222642 TSPO2 ENSG00000112212 -619410 gene 23170 TTLL12 ENSG00000100304 -619411 gene 9789 SPCS2 ENSG00000118363 -619412 gene 9717 SEC14L5 ENSG00000103184 -619413 gene 9720 CCDC144A ENSG00000170160 -619414 gene 9650 MTFR1 ENSG00000066855 -619415 gene 84630 TTBK1 ENSG00000146216 -619416 gene 166655 TRIM60 ENSG00000176979 -619417 gene 391712 TRIM61 ENSG00000183439 -619418 phenotype -619419 gene 23148 NACAD ENSG00000136274 -619420 phenotype -619421 gene 284254 DYNAP ENSG00000178690 -619422 phenotype -619423 phenotype -619424 phenotype -619425 phenotype -619426 phenotype -619427 gene 57862 ZNF410 ENSG00000119725 -619428 phenotype -619429 gene 9911 TMCC2 ENSG00000133069 -619430 gene 391253 SPINT4 ENSG00000149651 -619431 phenotype -619432 gene 84779 NAA11 ENSG00000156269 -619433 phenotype -619434 gene 51430 SUCO ENSG00000094975 -619435 phenotype -619436 phenotype -619437 phenotype -619438 gene 60560 NAA35 ENSG00000135040 -619439 gene 56965 PARP6 ENSG00000137817 -619440 gene 79832 QSER1 ENSG00000060749 -619441 phenotype -619442 gene 56995 TULP4 ENSG00000130338 -619443 gene 56917 MEIS3 ENSG00000105419 -619444 gene 79741 CCDC7 ENSG00000216937 -619445 phenotype -619446 phenotype -619447 gene 10712 FAM189B ENSG00000160767 -619448 gene 149563 SRARP ENSG00000183888 -619449 gene 27341 RRP7A ENSG00000189306 -619450 gene 100126343 MIR874 ENSG00000216009 -619451 phenotype -619452 phenotype -619453 phenotype -619454 gene 9781 RNF144A ENSG00000151692 -619455 gene 9644 SH3PXD2A ENSG00000107957 -619456 gene 56882 CDC42SE1 ENSG00000197622 -619457 gene 56990 CDC42SE2 ENSG00000158985 -619458 gene 114785 MBD6 ENSG00000166987 -619459 gene 23140 ZZEF1 ENSG00000074755 -619460 phenotype -619461 phenotype -619462 phenotype -619463 phenotype -619464 phenotype -619465 phenotype -619466 phenotype -619467 phenotype -619468 phenotype -619469 gene 84065 TMEM222 ENSG00000186501 -619470 phenotype -619471 phenotype -619472 phenotype -619473 phenotype -619474 gene 23518 R3HDM1 ENSG00000048991 -619475 phenotype -619476 phenotype -619477 phenotype -619478 phenotype -619479 phenotype -619480 phenotype -619481 phenotype -619482 phenotype -619483 phenotype -619484 phenotype -619485 gene 60676 PAPPA2 ENSG00000116183 -619486 phenotype -619487 phenotype -619488 phenotype -619489 phenotype -619490 gene 92255 LMBRD2 ENSG00000164187 -619491 phenotype -619492 phenotype -619493 phenotype -619494 gene 128439 SNHG11 ENSG00000174365 -619495 gene 8749 ADAM18 ENSG00000168619 -619496 gene 140467 ZNF358 ENSG00000198816 -619497 gene 79612 NAA16 ENSG00000172766 -619498 gene 23211 ZC3H4 ENSG00000130749 -619499 gene 163087 ZNF383 ENSG00000188283 -619500 phenotype -619501 phenotype -619502 gene 84688 C9orf24 ENSG00000164972 -619503 phenotype -619504 phenotype -619505 gene 170959 ZNF431 ENSG00000196705 -619506 gene 55786 ZNF415 ENSG00000170954 -619507 gene 155054 ZNF425 ENSG00000204947 -619508 gene 353274 ZNF445 ENSG00000185219 -619509 gene 147686 ZNF418 ENSG00000196724 -619510 phenotype -619511 gene 30832 ZNF354C ENSG00000177932 -619512 phenotype -619513 gene 54823 SWT1 ENSG00000116668 -619514 gene 81626 SHCBP1L ENSG00000157060 -619515 phenotype -619516 gene 51283 BFAR ENSG00000103429 -619517 phenotype -619518 phenotype -619519 phenotype -619520 gene -619521 phenotype -619522 phenotype -619523 phenotype -619524 gene 92595 ZNF764 ENSG00000169951 -619525 phenotype -619526 gene 51123 ZNF706 ENSG00000120963 -619527 phenotype -619528 phenotype -619529 gene 154197 PNLDC1 ENSG00000146453 -619530 gene 51006 SLC35C2 ENSG00000080189 -619531 phenotype -619532 gene 161931 ADAD2 ENSG00000140955 -619533 gene 642636 RAD21L1 ENSG00000244588 -619534 phenotype -619535 gene 27246 RNF115 ENSG00000265491 -619536 gene 57478 USP31 ENSG00000103404 -619537 gene 23357 ANGEL1 ENSG00000013523 -619538 phenotype -619539 phenotype -619540 gene 90673 PPP1R3E ENSG00000235194 -619541 gene 648791 PPP1R3G ENSG00000219607 -619542 phenotype -619543 phenotype -619544 gene 84726 PRRC2B ENSG00000288701 -619545 phenotype -619546 gene 127385 OR10J5 ENSG00000184155 -619547 gene 376267 RAB15 ENSG00000139998 -619548 phenotype -619549 phenotype -619550 gene 10966 RAB40B ENSG00000141542 -619551 gene 57799 RAB40C ENSG00000197562 -619552 gene 55110 MAGOHB ENSG00000111196 -619553 phenotype -619554 gene 219402 MTIF3 ENSG00000122033 -619555 phenotype -619556 phenotype -619557 phenotype -619558 gene 54734 RAB39A ENSG00000179331 -619559 gene 9813 EFCAB14 ENSG00000159658 -619560 gene 442891 MIR135B ENSG00000199059 -619561 phenotype -619562 phenotype -619563 gene 85377 MICALL1 ENSG00000100139 -619564 gene 79645 CLXN ENSG00000034239 -619565 phenotype -619566 phenotype -619567 gene 146779 EFCAB3 ENSG00000172421 -619568 gene 23052 ENDOD1 ENSG00000149218 -619569 gene 51759 C9orf78 ENSG00000136819 -619570 gene 54887 UHRF1BP1 ENSG00000065060 -619571 gene 54851 ANKRD49 ENSG00000168876 -619572 gene 406949 MIR15B ENSG00000207779 -619573 phenotype -619574 phenotype -619575 phenotype -619576 phenotype -619577 gene 84619 ZGPAT ENSG00000197114 -619578 gene 79029 SPATA5L1 ENSG00000171763 -619579 gene 23351 KHNYN ENSG00000100441 -619580 phenotype -619581 gene 57210 SLC45A4 ENSG00000022567 -619582 phenotype -619583 gene 254102 EHBP1L1 ENSG00000173442 -619584 gene 23302 WSCD1 ENSG00000179314 -619585 phenotype -619586 gene 23270 TSPYL4 ENSG00000187189 -619587 gene 23361 ZNF629 ENSG00000102870 -619588 phenotype -619589 gene 100885775 BANCR ENSG00000278910 -619590 gene 54886 PLPPR1 ENSG00000148123 -619591 gene 64748 PLPPR2 ENSG00000105520 -619593 phenotype -619594 phenotype -619595 phenotype -619596 gene 54940 OCIAD1 ENSG00000109180 -619597 gene 54952 TRNAU1AP ENSG00000180098 -619598 phenotype -619599 phenotype -619600 gene 84909 AOPEP ENSG00000148120 -619601 gene 144233 BCDIN3D ENSG00000186666 -619602 phenotype -619603 phenotype -619604 gene 162461 TMEM92 ENSG00000167105 -619605 phenotype -619606 phenotype -619607 phenotype -619608 phenotype -619609 phenotype -619610 gene 124602 KIF19 ENSG00000196169 -619611 phenotype -619612 gene 55973 BCAP29 ENSG00000075790 -619613 phenotype -619614 phenotype -619615 phenotype -619616 phenotype -619617 gene 84288 EFCAB2 ENSG00000203666 -619618 gene 284348 LYPD5 ENSG00000159871 -619619 gene 256394 SERPINA11 ENSG00000186910 -619620 gene 440387 CTRB2 ENSG00000168928 -619621 phenotype -619622 gene 54900 LAX1 ENSG00000122188 -619623 gene 57633 LRRN1 ENSG00000175928 -619624 gene 114783 LMTK3 ENSG00000142235 -619625 gene 10944 C11orf58 ENSG00000110696 -619626 gene 64863 METTL4 ENSG00000101574 -619627 gene 54497 HEATR5B ENSG00000008869 -619628 gene 54812 AFTPH ENSG00000119844 -619629 gene 11017 SNRNP27 ENSG00000124380 -619630 phenotype -619631 gene 11066 SNRNP35 ENSG00000184209 -619632 phenotype -619633 gene 132299 OCIAD2 ENSG00000145247 -619634 gene 64172 OSGEPL1 ENSG00000128694 -619635 gene 84936 ZFYVE19 ENSG00000166140 -619636 phenotype -619637 phenotype -619638 phenotype -619639 phenotype -619640 gene 80853 KDM7A ENSG00000006459 -619641 phenotype -619642 gene 10959 TMED2 ENSG00000086598 -619643 phenotype -619644 phenotype -619645 phenotype -619646 phenotype -619647 phenotype -619648 phenotype -619649 phenotype -619650 gene 391104 VHLL ENSG00000189030 -619651 phenotype -619652 phenotype -619653 phenotype -619654 gene 285315 C3orf33 ENSG00000174928 -619655 gene 140801 RPL10L ENSG00000165496 -619656 phenotype -619657 phenotype -619658 phenotype -619659 gene 116841 SNAP47 ENSG00000143740 -619660 gene 440603 BCL2L15 ENSG00000188761 -619661 phenotype -619662 phenotype -619663 gene 27042 UTP25 ENSG00000117597 -619664 gene 64800 EFCAB6 ENSG00000186976 -619665 phenotype -619666 gene 50853 VILL ENSG00000136059 -619667 gene 54978 SLC35F6 ENSG00000213699 -619668 gene 51071 DERA ENSG00000023697 -619669 gene 145788 PIERCE2 ENSG00000261652 -619670 gene 389658 ALKAL1 ENSG00000196711 -619671 gene 285016 ALKAL2 ENSG00000189292 -619672 phenotype -619673 phenotype -619674 gene 84279 PRADC1 ENSG00000135617 -619675 gene 22888 UBOX5 ENSG00000185019 -619676 gene 200523 TEX37 ENSG00000172073 -619677 gene 56650 CLDND1 ENSG00000080822 -619678 gene 84645 C22orf23 ENSG00000128346 -619679 gene 128229 TSACC ENSG00000163467 -619680 phenotype -619681 phenotype -619682 gene 51374 ATRAID ENSG00000138085 -619683 gene 54836 BSPRY ENSG00000119411 -619684 gene 84709 MGARP ENSG00000137463 -619685 phenotype -619686 phenotype -619687 phenotype -619688 phenotype -619689 phenotype -619690 phenotype -619691 phenotype -619692 phenotype -619693 phenotype -619694 phenotype -619695 phenotype -619696 phenotype -619697 phenotype -619698 phenotype -619699 phenotype -619700 gene 148345 C1orf127 ENSG00000175262 -619701 phenotype -619702 phenotype -619703 gene 100128908 CIROP ENSG00000283654 -619704 gene 55854 ZC3H15 ENSG00000065548 -619705 phenotype -619706 gene 164312 LRRN4 ENSG00000125872 -619707 phenotype -619708 phenotype -619709 gene 23313 KIAA0930 ENSG00000100364 -619710 gene 404037 HAPLN4 ENSG00000187664 -619711 gene 64073 C19orf33 ENSG00000167644 -619712 phenotype -619713 gene 54825 CDHR2 ENSG00000074276 -619714 phenotype -619715 gene 58525 WIZ ENSG00000011451 -619716 gene 93973 ACTR8 ENSG00000113812 -619717 phenotype -619718 phenotype -619719 phenotype -619720 phenotype -619721 phenotype -619722 gene 79639 TMEM53 ENSG00000126106 -619723 gene 59342 SCPEP1 ENSG00000121064 -619724 phenotype -619725 phenotype -619726 gene 60484 HAPLN2 ENSG00000132702 -619727 phenotype -619728 gene 63874 ABHD4 ENSG00000100439 -619729 gene 64431 ACTR6 ENSG00000075089 -619730 gene 79913 ACTR5 ENSG00000101442 -619731 gene 55860 ACTR10 ENSG00000131966 -619732 gene 92370 PXYLP1 ENSG00000155893 -619733 phenotype -619734 gene 54749 EPDR1 ENSG00000086289 -619735 phenotype -619736 phenotype -619737 phenotype -619738 phenotype -619739 gene 54529 ASNSD1 ENSG00000138381 -619740 gene 110599588 ASDURF ENSG00000286053 -619741 gene 55954 ZMAT5 ENSG00000100319 -619742 phenotype -619743 phenotype -619744 gene 51538 ZCCHC17 ENSG00000121766 -619745 phenotype -619746 gene 51530 ZC3HC1 ENSG00000091732 -619747 phenotype -619748 gene 54674 LRRN3 ENSG00000173114 -619749 gene 55591 VEZT ENSG00000028203 -619750 phenotype -619751 phenotype -619752 phenotype -619753 gene 84305 PYM1 ENSG00000170473 -619754 gene 285525 YIPF7 ENSG00000177752 -619755 phenotype -619756 gene 118424 UBE2J2 ENSG00000160087 -619757 gene 142685 ASB15 ENSG00000146809 -619758 phenotype -619759 phenotype -619760 gene 91419 ATP23 ENSG00000166896 -619761 phenotype -619762 phenotype -619763 gene 23038 WDTC1 ENSG00000142784 -619764 phenotype -619765 gene 55057 CRYBG2 ENSG00000176092 -619766 gene 56252 YLPM1 ENSG00000119596 -619767 phenotype -619768 gene 92714 ARRDC1 ENSG00000197070 -619769 phenotype -619770 gene 150223 YDJC ENSG00000161179 -619771 gene 51231 VRK3 ENSG00000105053 -619772 gene 80227 PAAF1 ENSG00000175575 -619773 phenotype -619774 phenotype -619775 phenotype -619776 gene 151254 C2CD6 ENSG00000155754 -619777 phenotype -619778 gene 338699 ANKRD42 ENSG00000137494 -619779 gene 84740 AFAP1-AS1 ENSG00000272620 -619780 phenotype -619781 phenotype -619782 gene 402573 SPACDR ENSG00000185955 -619783 phenotype -619784 phenotype -619785 phenotype -619786 phenotype -619787 phenotype -619788 gene 91947 ARRDC4 ENSG00000140450 -619789 phenotype -619790 phenotype -619791 gene 23120 ATP10B ENSG00000118322 -619792 gene 9551 ATP5MF ENSG00000241468 -619793 phenotype -619794 gene 402117 VWC2L ENSG00000174453 -619795 phenotype -619796 gene 130540 FLACC1 ENSG00000155749 -619797 phenotype -619798 gene 1998 ELF2 ENSG00000109381 -619799 phenotype -619800 gene 22993 HMGXB3 ENSG00000113716 -619801 gene 171568 POLR3H ENSG00000100413 -619802 phenotype -619803 phenotype -619804 phenotype -619805 phenotype -619806 phenotype -619807 gene 343263 MYBPHL ENSG00000221986 -619808 phenotype -619809 gene 574537 UGT2A2 ENSG00000271271 -619810 phenotype -619811 gene 23074 UHRF1BP1L ENSG00000111647 -619813 phenotype -619814 phenotype -619815 gene 57205 ATP10D ENSG00000145246 -619816 phenotype -619817 phenotype -619818 gene 84337 ELOF1 ENSG00000130165 -619819 gene 29066 ZC3H7A ENSG00000122299 -619820 gene 84913 ATOH8 ENSG00000168874 -619821 gene 284131 ENDOV ENSG00000173818 -619822 gene 23786 BCL2L13 ENSG00000099968 -619823 gene 10541 ANP32B ENSG00000136938 -619825 phenotype -619826 phenotype -619828 phenotype -619829 gene 57639 CCDC146 ENSG00000135205 -619830 gene 120237 DBX1 ENSG00000109851 -619831 phenotype -619832 phenotype -619834 phenotype diff --git a/makefile b/makefile index c0c04a0..b68c10a 100644 --- a/makefile +++ b/makefile @@ -7,13 +7,21 @@ pip remove-previous-build build-package get-pmids scrape install # MAIN COMMANDS ---------------------------------------------------------------- -# TODO: What else needs to be done before build? How to chain together? -all: build +all: build sssom # Create new omim.ttl build: pipenv run python3 -m omim2obo +# Create mapping artefact(s) +sssom: + robot convert -i omim.ttl -o omim.json + sssom parse omim.json -I obographs-json -m data/metadata.sssom.yml -o omim.sssom.tsv &> omim.sssom.log.txt + cat omim.sssom.log.txt | sort | uniq > omim.sssom.log_unique-messages.txt + @echo Done. Check 'omim.sssom.log.txt' and 'omim.sssom.log_unique-messages.txt' for results + @rm omim.json + +# Additional ad hoc commands --------------------------------------------------- # scrape: argument should be in form of YYYY/MM or YYYY/mm # @param y: The year. Pass as =, where can be y, yr, year, # or YYYY. diff --git a/omim.sssom.tsv b/omim.sssom.tsv new file mode 100644 index 0000000..ed02839 --- /dev/null +++ b/omim.sssom.tsv @@ -0,0 +1,64813 @@ +# creator_id: https://orcid.org/0000-0002-2906-7319 +# curie_map: +# HGNC: 'https://identifiers.org/hgnc:' +# HGNC_symbol: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/ +# OMIM: https://omim.org/entry/ +# ORPHA: http://www.orpha.net/ORDO/Orphanet_ +# UMLS: http://linkedlifedata.com/resource/umls/id/ +# skos: http://www.w3.org/2004/02/skos/core# +# license: http://license.org +# mapping_set_id: http://example.org +subject_id predicate_id object_id match_type subject_label +OMIM:608617 skos:exactMatch UMLS:C1412940 Unspecified FAM3B +OMIM:608617 skos:exactMatch HGNC_symbol:FAM3B Unspecified FAM3B +OMIM:608617 skos:exactMatch HGNC:1253 Unspecified FAM3B +OMIM:608616 skos:exactMatch HGNC_symbol:OBSCN Unspecified OBSCN +OMIM:608616 skos:exactMatch UMLS:C1423682 Unspecified OBSCN +OMIM:608616 skos:exactMatch HGNC:15719 Unspecified OBSCN +OMIM:608615 skos:exactMatch UMLS:C1837750 Unspecified oligodontia-colorectal cancer syndrome +OMIM:608614 skos:exactMatch HGNC:23198 Unspecified CYP4V2 +OMIM:608614 skos:exactMatch HGNC_symbol:CYP4V2 Unspecified CYP4V2 +OMIM:608614 skos:exactMatch UMLS:C1539212 Unspecified CYP4V2 +OMIM:608619 skos:exactMatch HGNC_symbol:FAM3D Unspecified FAM3D +OMIM:608619 skos:exactMatch HGNC:18665 Unspecified FAM3D +OMIM:608619 skos:exactMatch UMLS:C1425691 Unspecified FAM3D +OMIM:608618 skos:exactMatch HGNC_symbol:FAM3C Unspecified FAM3C +OMIM:608618 skos:exactMatch HGNC:18664 Unspecified FAM3C +OMIM:608618 skos:exactMatch UMLS:C1425690 Unspecified FAM3C +OMIM:128700 skos:exactMatch UMLS:C0546969 Unspecified preauricular fistulae, congenital +OMIM:608624 skos:exactMatch UMLS:C1837730 Unspecified midface hypoplasia, obesity, developmental delay, and neonatal hypotonia +OMIM:608622 skos:exactMatch UMLS:C1837739 Unspecified hypertension, diastolic, resistance to +OMIM:608621 skos:exactMatch UMLS:C1420335 Unspecified SPA17 +OMIM:608621 skos:exactMatch HGNC_symbol:SPA17 Unspecified SPA17 +OMIM:608621 skos:exactMatch HGNC:11210 Unspecified SPA17 +OMIM:608606 skos:exactMatch UMLS:C1826425 Unspecified BHLHA15 +OMIM:608606 skos:exactMatch HGNC:22265 Unspecified BHLHA15 +OMIM:608606 skos:exactMatch HGNC_symbol:BHLHA15 Unspecified BHLHA15 +OMIM:608605 skos:exactMatch HGNC:30611 Unspecified STT3B +OMIM:608605 skos:exactMatch HGNC_symbol:STT3B Unspecified STT3B +OMIM:608605 skos:exactMatch UMLS:C2931007 Unspecified STT3B +OMIM:608605 skos:exactMatch UMLS:C1823139 Unspecified STT3B +OMIM:608604 skos:exactMatch UMLS:C1428959 Unspecified RBP7 +OMIM:608604 skos:exactMatch HGNC_symbol:RBP7 Unspecified RBP7 +OMIM:608604 skos:exactMatch HGNC:30316 Unspecified RBP7 +OMIM:608603 skos:exactMatch HGNC_symbol:GLDN Unspecified GLDN +OMIM:608603 skos:exactMatch UMLS:C1825367 Unspecified GLDN +OMIM:608603 skos:exactMatch HGNC:29514 Unspecified GLDN +OMIM:608609 skos:exactMatch HGNC:24298 Unspecified C1ORF152 +OMIM:608609 skos:exactMatch HGNC_symbol:PFN1P2 Unspecified C1ORF152 +OMIM:608609 skos:exactMatch UMLS:C1823771 Unspecified C1ORF152 +OMIM:608608 skos:exactMatch HGNC_symbol:PPIAL4E Unspecified PPIAL4E +OMIM:608608 skos:exactMatch UMLS:C1538708 Unspecified PPIAL4E +OMIM:608608 skos:exactMatch HGNC:33997 Unspecified PPIAL4E +OMIM:608607 skos:exactMatch HGNC:24297 Unspecified NBPF12 +OMIM:608607 skos:exactMatch HGNC_symbol:NBPF12 Unspecified NBPF12 +OMIM:608607 skos:exactMatch UMLS:C1825682 Unspecified NBPF12 +OMIM:608613 skos:exactMatch UMLS:C1422729 Unspecified SP6 +OMIM:608613 skos:exactMatch HGNC:14530 Unspecified SP6 +OMIM:608613 skos:exactMatch HGNC_symbol:SP6 Unspecified SP6 +OMIM:608612 skos:exactMatch UMLS:C1837756 Unspecified mandibuloacral dysplasia with iia B lipodystrophy +OMIM:608612 skos:exactMatch ORPHA:90154 Unspecified mandibuloacral dysplasia with iia B lipodystrophy +OMIM:608612 skos:exactMatch ORPHA:2457 Unspecified mandibuloacral dysplasia with iia B lipodystrophy +OMIM:608611 skos:exactMatch UMLS:C1291609 Unspecified ribose 5-phosphate isomerase deficiency +OMIM:608610 skos:exactMatch HGNC_symbol:PDCD4 Unspecified PDCD4 +OMIM:608610 skos:exactMatch HGNC:8763 Unspecified PDCD4 +OMIM:608610 skos:exactMatch UMLS:C1418404 Unspecified PDCD4 +OMIM:116700 skos:exactMatch UMLS:C3805373 Unspecified cataract 13 with adult i phenotype +OMIM:608602 skos:exactMatch UMLS:C1424769 Unspecified SP140 +OMIM:608602 skos:exactMatch HGNC:17133 Unspecified SP140 +OMIM:608602 skos:exactMatch HGNC_symbol:SP140 Unspecified SP140 +OMIM:608601 skos:exactMatch HGNC_symbol:FBRS Unspecified FBS1 +OMIM:608601 skos:exactMatch HGNC:20442 Unspecified FBS1 +OMIM:608601 skos:exactMatch UMLS:C1426940 Unspecified FBS1 +OMIM:608600 skos:exactMatch UMLS:C1720859 Unspecified lipodystrophy, familial partial, iia 1 +OMIM:141700 skos:exactMatch UMLS:C1841622 Unspecified hemolytic poikilocytic anemia due to reduced ankyrin binding sites +OMIM:261590 skos:exactMatch UMLS:C1849927 Unspecified phenformin 4-hydroxylation +OMIM:608659 skos:exactMatch HGNC:22992 Unspecified SENP8 +OMIM:608659 skos:exactMatch UMLS:C1427843 Unspecified SENP8 +OMIM:608659 skos:exactMatch HGNC_symbol:SENP8 Unspecified SENP8 +OMIM:608658 skos:exactMatch UMLS:C1837593 Unspecified prostate cancer, hereditary, 4 +OMIM:153700 skos:exactMatch UMLS:C0339510 Unspecified macular dystrophy, vitelliform, 2 +OMIM:608660 skos:exactMatch HGNC_symbol:INSIG2 Unspecified INSIG2 +OMIM:608660 skos:exactMatch UMLS:C1426946 Unspecified INSIG2 +OMIM:608660 skos:exactMatch HGNC:20452 Unspecified INSIG2 +OMIM:606001 skos:exactMatch HGNC:16830 Unspecified IL32 +OMIM:606001 skos:exactMatch HGNC_symbol:IL32 Unspecified IL32 +OMIM:606001 skos:exactMatch UMLS:C1537404 Unspecified IL32 +OMIM:606002 skos:exactMatch UMLS:C1853761 Unspecified spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +OMIM:608663 skos:exactMatch HGNC:25240 Unspecified ANO6 +OMIM:608663 skos:exactMatch HGNC_symbol:ANO6 Unspecified ANO6 +OMIM:608663 skos:exactMatch UMLS:C1428459 Unspecified ANO6 +OMIM:608662 skos:exactMatch HGNC:27337 Unspecified ANO5 +OMIM:608662 skos:exactMatch HGNC_symbol:ANO5 Unspecified ANO5 +OMIM:608662 skos:exactMatch UMLS:C1428652 Unspecified ANO5 +OMIM:608661 skos:exactMatch HGNC:23174 Unspecified PODN +OMIM:608661 skos:exactMatch HGNC_symbol:PODN Unspecified PODN +OMIM:608661 skos:exactMatch UMLS:C1427966 Unspecified PODN +OMIM:606000 skos:exactMatch HGNC_symbol:BTNL2 Unspecified BTNL2 +OMIM:606000 skos:exactMatch UMLS:C1412849 Unspecified BTNL2 +OMIM:606000 skos:exactMatch HGNC:1142 Unspecified BTNL2 +OMIM:608668 skos:exactMatch HGNC:16966 Unspecified ZMYND11 +OMIM:608668 skos:exactMatch HGNC_symbol:ZMYND11 Unspecified ZMYND11 +OMIM:608668 skos:exactMatch UMLS:C1538178 Unspecified ZMYND11 +OMIM:606005 skos:exactMatch HGNC_symbol:GGA2 Unspecified GGA2 +OMIM:606005 skos:exactMatch UMLS:C1423948 Unspecified GGA2 +OMIM:606005 skos:exactMatch HGNC:16064 Unspecified GGA2 +OMIM:608667 skos:exactMatch HGNC:28862 Unspecified NIPBL +OMIM:608667 skos:exactMatch HGNC_symbol:NIPBL Unspecified NIPBL +OMIM:608667 skos:exactMatch UMLS:C4551851 Unspecified NIPBL +OMIM:608667 skos:exactMatch UMLS:C1538063 Unspecified NIPBL +OMIM:606006 skos:exactMatch UMLS:C1424728 Unspecified GGA3 +OMIM:606006 skos:exactMatch HGNC_symbol:GGA3 Unspecified GGA3 +OMIM:606006 skos:exactMatch HGNC:17079 Unspecified GGA3 +OMIM:608666 skos:exactMatch UMLS:C1427818 Unspecified PEX26 +OMIM:608666 skos:exactMatch HGNC_symbol:PEX26 Unspecified PEX26 +OMIM:608666 skos:exactMatch HGNC:22965 Unspecified PEX26 +OMIM:606003 skos:exactMatch UMLS:C1291329 Unspecified transaldolase deficiency +OMIM:606003 skos:exactMatch ORPHA:101028 Unspecified transaldolase deficiency +OMIM:606004 skos:exactMatch HGNC:17842 Unspecified GGA1 +OMIM:606004 skos:exactMatch UMLS:C1425123 Unspecified GGA1 +OMIM:606004 skos:exactMatch HGNC_symbol:GGA1 Unspecified GGA1 +OMIM:608665 skos:exactMatch UMLS:C1826729 Unspecified PSMC3IP +OMIM:608665 skos:exactMatch HGNC_symbol:PSMC3IP Unspecified PSMC3IP +OMIM:608665 skos:exactMatch HGNC:17928 Unspecified PSMC3IP +OMIM:608649 skos:exactMatch UMLS:C1837610 Unspecified ichthyosis prematurity syndrome +OMIM:608648 skos:exactMatch HGNC:21082 Unspecified SEC63 +OMIM:608648 skos:exactMatch HGNC_symbol:SEC63 Unspecified SEC63 +OMIM:608648 skos:exactMatch UMLS:C1427303 Unspecified SEC63 +OMIM:608647 skos:exactMatch UMLS:C1837615 Unspecified ciliary dyskinesia, primary, 5 +OMIM:261575 skos:exactMatch UMLS:C1849928 Unspecified phaver syndrome +OMIM:104702 skos:exactMatch HGNC_symbol:AMY1C Unspecified AMY1C +OMIM:104702 skos:exactMatch UMLS:C1412393 Unspecified AMY1C +OMIM:104702 skos:exactMatch HGNC:476 Unspecified AMY1C +OMIM:104701 skos:exactMatch UMLS:C1412392 Unspecified AMY1B +OMIM:104701 skos:exactMatch HGNC:475 Unspecified AMY1B +OMIM:104701 skos:exactMatch HGNC_symbol:AMY1B Unspecified AMY1B +OMIM:608653 skos:exactMatch UMLS:C1837608 Unspecified deafness, autosomal recessive 32, with or without immotile sperm +OMIM:608652 skos:exactMatch UMLS:C1837609 Unspecified deafness, autosomal dominant 47 +OMIM:608651 skos:exactMatch HGNC_symbol:AGAP1 Unspecified AGAP1 +OMIM:608651 skos:exactMatch HGNC:16922 Unspecified AGAP1 +OMIM:608651 skos:exactMatch UMLS:C1424637 Unspecified AGAP1 +OMIM:608650 skos:exactMatch HGNC_symbol:ULK2 Unspecified ULK2 +OMIM:608650 skos:exactMatch HGNC:13480 Unspecified ULK2 +OMIM:608650 skos:exactMatch UMLS:C1422013 Unspecified ULK2 +OMIM:608657 skos:exactMatch UMLS:C1837594 Unspecified JDP2 +OMIM:608657 skos:exactMatch HGNC:17546 Unspecified JDP2 +OMIM:608657 skos:exactMatch HGNC_symbol:JDP2 Unspecified JDP2 +OMIM:608656 skos:exactMatch UMLS:C1837595 Unspecified prostate cancer, hereditary, 3 +OMIM:104700 skos:exactMatch UMLS:C1412391 Unspecified AMY1A +OMIM:104700 skos:exactMatch HGNC:474 Unspecified AMY1A +OMIM:104700 skos:exactMatch HGNC_symbol:AMY1A Unspecified AMY1A +OMIM:608655 skos:exactMatch HGNC:4280 Unspecified GJC1 +OMIM:608655 skos:exactMatch HGNC_symbol:GJC1 Unspecified GJC1 +OMIM:608655 skos:exactMatch UMLS:C1415074 Unspecified GJC1 +OMIM:608654 skos:exactMatch UMLS:C0020075 Unspecified neuropathy, hereditary sensory and autonomic, iia 5 +OMIM:608639 skos:exactMatch UMLS:C1538671 Unspecified PLEKHA8 +OMIM:608639 skos:exactMatch HGNC:30037 Unspecified PLEKHA8 +OMIM:608639 skos:exactMatch HGNC_symbol:PLEKHA8 Unspecified PLEKHA8 +OMIM:608638 skos:exactMatch UMLS:C1837646 Unspecified asperger syndrome, susceptibility to, 1 +OMIM:141749 skos:exactMatch UMLS:C0271985 Unspecified fetal hemoglobin quantitative trait locus 1 +OMIM:141749 skos:exactMatch UMLS:C1841621 Unspecified fetal hemoglobin quantitative trait locus 1 +OMIM:608636 skos:exactMatch UMLS:C1876176 Unspecified chromosome 15q11-q13 duplication syndrome +OMIM:608636 skos:exactMatch UMLS:C3807826 Unspecified chromosome 15q11-q13 duplication syndrome +OMIM:608636 skos:exactMatch UMLS:C2675336 Unspecified chromosome 15q11-q13 duplication syndrome +OMIM:261560 skos:exactMatch UMLS:C1849929 Unspecified pfeiffer-palm-teller syndrome +OMIM:608642 skos:exactMatch HGNC:20149 Unspecified ZADH1 +OMIM:608642 skos:exactMatch UMLS:C1426733 Unspecified ZADH1 +OMIM:608642 skos:exactMatch HGNC_symbol:PTGR2 Unspecified ZADH1 +OMIM:608641 skos:exactMatch UMLS:C1837640 Unspecified deafness, autosomal dominant 28 +OMIM:608640 skos:exactMatch UMLS:C1823978 Unspecified ZNF461 +OMIM:608640 skos:exactMatch HGNC_symbol:ZNF461 Unspecified ZNF461 +OMIM:608640 skos:exactMatch HGNC:21629 Unspecified ZNF461 +OMIM:608646 skos:exactMatch UMLS:C1837616 Unspecified ciliary dyskinesia, primary, 4 +OMIM:608645 skos:exactMatch UMLS:C1837617 Unspecified deafness, autosomal dominant 31 +OMIM:608644 skos:exactMatch UMLS:C1837618 Unspecified ciliary dyskinesia, primary, 3 +OMIM:608643 skos:exactMatch UMLS:C1291564 Unspecified aromatic l-amino acid decarboxylase deficiency +OMIM:608643 skos:exactMatch ORPHA:35708 Unspecified aromatic l-amino acid decarboxylase deficiency +OMIM:608628 skos:exactMatch UMLS:C1539940 Unspecified TBL1XR1 +OMIM:608628 skos:exactMatch HGNC_symbol:TBL1XR1 Unspecified TBL1XR1 +OMIM:608628 skos:exactMatch HGNC:29529 Unspecified TBL1XR1 +OMIM:608627 skos:exactMatch UMLS:C1837728 Unspecified amyotrophic lateral sclerosis 8 +OMIM:608626 skos:exactMatch HGNC_symbol:STRADA Unspecified STRADA +OMIM:608626 skos:exactMatch UMLS:C1837729 Unspecified STRADA +OMIM:608626 skos:exactMatch HGNC:30172 Unspecified STRADA +OMIM:165700 skos:exactMatch UMLS:C0264081 Unspecified thiemann disease +OMIM:608625 skos:exactMatch HGNC_symbol:PTRH2 Unspecified PTRH2 +OMIM:608625 skos:exactMatch UMLS:C1826738 Unspecified PTRH2 +OMIM:608625 skos:exactMatch HGNC:24265 Unspecified PTRH2 +OMIM:608629 skos:exactMatch UMLS:C1837713 Unspecified joubert syndrome 3 +OMIM:261550 skos:exactMatch UMLS:C1849930 Unspecified persistent mullerian duct syndrome, types 1 and 2 +OMIM:608631 skos:exactMatch UMLS:C1837697 Unspecified asperger syndrome, susceptibility to, 2 +OMIM:141750 skos:exactMatch UMLS:C0795917 Unspecified alpha-thalassemia/mental retardation syndrome, chromosome 16-related +OMIM:608630 skos:exactMatch HGNC_symbol:ROBO3 Unspecified ROBO3 +OMIM:608630 skos:exactMatch HGNC:13433 Unspecified ROBO3 +OMIM:608630 skos:exactMatch UMLS:C1538879 Unspecified ROBO3 +OMIM:138110 skos:exactMatch UMLS:C1414893 Unspecified glucose-6-phosphate dehydrogenase-like +OMIM:608635 skos:exactMatch HGNC:16487 Unspecified ADAP2 +OMIM:608635 skos:exactMatch UMLS:C1424319 Unspecified ADAP2 +OMIM:608635 skos:exactMatch HGNC_symbol:ADAP2 Unspecified ADAP2 +OMIM:608634 skos:exactMatch UMLS:C2608087 Unspecified neuronopathy, distal hereditary motor, iia 2b +OMIM:608633 skos:exactMatch UMLS:C1824531 Unspecified CASP12 +OMIM:608633 skos:exactMatch HGNC_symbol:CASP12 Unspecified CASP12 +OMIM:608633 skos:exactMatch HGNC:19004 Unspecified CASP12 +OMIM:608632 skos:exactMatch UMLS:C1537830 Unspecified MIR196A1 +OMIM:608632 skos:exactMatch HGNC:31567 Unspecified MIR196A1 +OMIM:608632 skos:exactMatch HGNC_symbol:MIR196A1 Unspecified MIR196A1 +OMIM:618021 skos:exactMatch UMLS:C4747923 Unspecified tetraamelia syndrome 2 +OMIM:189700 skos:exactMatch UMLS:C1861044 Unspecified torus palatinus and torus mandibularis +OMIM:618020 skos:exactMatch HGNC:25888 Unspecified KLHL22 +OMIM:618020 skos:exactMatch HGNC_symbol:KLHL22 Unspecified KLHL22 +OMIM:618020 skos:exactMatch UMLS:C1825724 Unspecified KLHL22 +OMIM:261540 skos:exactMatch UMLS:C0796012 Unspecified peters-plus syndrome +OMIM:618023 skos:exactMatch UMLS:C1538481 Unspecified NOTCH2NLA +OMIM:618023 skos:exactMatch HGNC_symbol:NOTCH2NLA Unspecified NOTCH2NLA +OMIM:618023 skos:exactMatch HGNC:31862 Unspecified NOTCH2NLA +OMIM:618022 skos:exactMatch UMLS:C4747940 Unspecified humerofemoral hypoplasia with radiotibial ray deficiency +OMIM:618025 skos:exactMatch UMLS:C1863843 Unspecified NOTCH2NLC +OMIM:618025 skos:exactMatch UMLS:C5394329 Unspecified NOTCH2NLC +OMIM:618025 skos:exactMatch HGNC:53924 Unspecified NOTCH2NLC +OMIM:618025 skos:exactMatch UMLS:C4747952 Unspecified NOTCH2NLC +OMIM:618025 skos:exactMatch HGNC_symbol:NOTCH2NLC Unspecified NOTCH2NLC +OMIM:618024 skos:exactMatch HGNC:53923 Unspecified NOTCH2NLB +OMIM:618024 skos:exactMatch UMLS:C4747951 Unspecified NOTCH2NLB +OMIM:618024 skos:exactMatch HGNC_symbol:NOTCH2NLB Unspecified NOTCH2NLB +OMIM:618027 skos:exactMatch UMLS:C4747954 Unspecified coffin-siris syndrome 7 +OMIM:618026 skos:exactMatch HGNC_symbol:NOTCH2NLR Unspecified notch2 n-terminal-like r +OMIM:618026 skos:exactMatch HGNC:53925 Unspecified notch2 n-terminal-like r +OMIM:618026 skos:exactMatch UMLS:C4747953 Unspecified notch2 n-terminal-like r +OMIM:618029 skos:exactMatch UMLS:C1539423 Unspecified SHLD2 +OMIM:618029 skos:exactMatch HGNC_symbol:SHLD2 Unspecified SHLD2 +OMIM:618029 skos:exactMatch HGNC:28773 Unspecified SHLD2 +OMIM:618028 skos:exactMatch HGNC:26318 Unspecified SHLD1 +OMIM:618028 skos:exactMatch HGNC_symbol:SHLD1 Unspecified SHLD1 +OMIM:618028 skos:exactMatch UMLS:C1824502 Unspecified SHLD1 +OMIM:618019 skos:exactMatch UMLS:C4747922 Unspecified rhizomelic skeletal dysplasia with or without pelger huet anomaly +OMIM:606041 skos:exactMatch HGNC:11220 Unspecified SPARCL1 +OMIM:606041 skos:exactMatch UMLS:C1420343 Unspecified SPARCL1 +OMIM:606041 skos:exactMatch HGNC_symbol:SPARCL1 Unspecified SPARCL1 +OMIM:606042 skos:exactMatch UMLS:C1423084 Unspecified MYNN +OMIM:606042 skos:exactMatch HGNC:14955 Unspecified MYNN +OMIM:606042 skos:exactMatch HGNC_symbol:MYNN Unspecified MYNN +OMIM:606040 skos:exactMatch HGNC:12759 Unspecified WDR8 +OMIM:606040 skos:exactMatch UMLS:C1421498 Unspecified WDR8 +OMIM:606040 skos:exactMatch HGNC_symbol:WRAP73 Unspecified WDR8 +OMIM:606045 skos:exactMatch UMLS:C0432235 Unspecified IFT122 +OMIM:606045 skos:exactMatch UMLS:C1825573 Unspecified IFT122 +OMIM:606045 skos:exactMatch HGNC_symbol:IFT122 Unspecified IFT122 +OMIM:606045 skos:exactMatch HGNC:13556 Unspecified IFT122 +OMIM:606046 skos:exactMatch UMLS:C1423847 Unspecified STX18 +OMIM:606046 skos:exactMatch HGNC_symbol:STX18 Unspecified STX18 +OMIM:606046 skos:exactMatch HGNC:15942 Unspecified STX18 +OMIM:606043 skos:exactMatch UMLS:C1423527 Unspecified ZNF331 +OMIM:606043 skos:exactMatch HGNC_symbol:ZNF331 Unspecified ZNF331 +OMIM:606043 skos:exactMatch HGNC:15489 Unspecified ZNF331 +OMIM:606044 skos:exactMatch HGNC:11328 Unspecified ZNRD2 +OMIM:606044 skos:exactMatch UMLS:C1420433 Unspecified ZNRD2 +OMIM:606044 skos:exactMatch HGNC_symbol:ZNRD2 Unspecified ZNRD2 +OMIM:138120 skos:exactMatch HGNC:5238 Unspecified HSPA5 +OMIM:138120 skos:exactMatch UMLS:C1415761 Unspecified HSPA5 +OMIM:138120 skos:exactMatch HGNC_symbol:HSPA5 Unspecified HSPA5 +OMIM:606049 skos:exactMatch UMLS:C1853757 Unspecified acromegaloid features, overgrowth, cleft palate, and hernia +OMIM:606047 skos:exactMatch UMLS:C1825813 Unspecified LILRA5 +OMIM:606047 skos:exactMatch HGNC:16309 Unspecified LILRA5 +OMIM:606047 skos:exactMatch HGNC_symbol:LILRA5 Unspecified LILRA5 +OMIM:606048 skos:exactMatch HGNC_symbol:MBOAT7 Unspecified MBOAT7 +OMIM:606048 skos:exactMatch UMLS:C1423536 Unspecified MBOAT7 +OMIM:606048 skos:exactMatch HGNC:15505 Unspecified MBOAT7 +OMIM:606029 skos:exactMatch HGNC_symbol:CPSF3 Unspecified CPSF3 +OMIM:606029 skos:exactMatch UMLS:C1413686 Unspecified CPSF3 +OMIM:606029 skos:exactMatch HGNC:2326 Unspecified CPSF3 +OMIM:190700 skos:exactMatch HGNC_symbol:ZFP36 Unspecified ZFP36 +OMIM:190700 skos:exactMatch HGNC:12862 Unspecified ZFP36 +OMIM:190700 skos:exactMatch UMLS:C1421571 Unspecified ZFP36 +OMIM:165720 skos:exactMatch UMLS:C3887876 Unspecified osteoarthritis susceptibility 1 +OMIM:618010 skos:exactMatch UMLS:C4747891 Unspecified glycosylphosphatidylinositol biosynthesis defect 17 +OMIM:618012 skos:exactMatch UMLS:C4693934 Unspecified developmental and epileptic encephalopathy 93 +OMIM:618011 skos:exactMatch UMLS:C4693933 Unspecified hyperekplexia 4 +OMIM:618014 skos:exactMatch UMLS:C4693941 Unspecified premature ovarian failure 14 +OMIM:618013 skos:exactMatch UMLS:C4693935 Unspecified deafness, autosomal recessive 109 +OMIM:618016 skos:exactMatch UMLS:C1425692 Unspecified RNPC3 +OMIM:618016 skos:exactMatch HGNC:18666 Unspecified RNPC3 +OMIM:618016 skos:exactMatch HGNC_symbol:RNPC3 Unspecified RNPC3 +OMIM:618015 skos:exactMatch UMLS:C4693947 Unspecified protoporphyria, erythropoietic, 2 +OMIM:618018 skos:exactMatch UMLS:C4693948 Unspecified drug metabolism, altered, cyp2c8-related +OMIM:618017 skos:exactMatch HGNC:23471 Unspecified ANKRD16 +OMIM:618017 skos:exactMatch UMLS:C1428088 Unspecified ANKRD16 +OMIM:618017 skos:exactMatch HGNC_symbol:ANKRD16 Unspecified ANKRD16 +OMIM:618009 skos:exactMatch ORPHA:528084 Unspecified intellectual developmental disorder, autosomal dominant 61 +OMIM:618009 skos:exactMatch UMLS:C5231400 Unspecified intellectual developmental disorder, autosomal dominant 61 +OMIM:618008 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 65 +OMIM:618008 skos:exactMatch UMLS:C4693925 Unspecified developmental and epileptic encephalopathy 65 +OMIM:608693 skos:exactMatch HGNC_symbol:GORASP2 Unspecified GORASP2 +OMIM:608693 skos:exactMatch UMLS:C1424984 Unspecified GORASP2 +OMIM:608693 skos:exactMatch HGNC:17500 Unspecified GORASP2 +OMIM:606030 skos:exactMatch UMLS:C1825026 Unspecified EDC4 +OMIM:606030 skos:exactMatch HGNC_symbol:EDC4 Unspecified EDC4 +OMIM:606030 skos:exactMatch HGNC:17157 Unspecified EDC4 +OMIM:608692 skos:exactMatch HGNC_symbol:BLZF1 Unspecified BLZF1 +OMIM:608692 skos:exactMatch HGNC:1065 Unspecified BLZF1 +OMIM:608692 skos:exactMatch UMLS:C1412803 Unspecified BLZF1 +OMIM:606031 skos:exactMatch HGNC:12758 Unspecified WDR6 +OMIM:606031 skos:exactMatch HGNC_symbol:WDR6 Unspecified WDR6 +OMIM:606031 skos:exactMatch UMLS:C1421497 Unspecified WDR6 +OMIM:177700 skos:exactMatch UMLS:C3888338 Unspecified glaucoma 1, open angle, p +OMIM:608691 skos:exactMatch UMLS:C1837529 Unspecified major depressive disorder 2 +OMIM:608690 skos:exactMatch HGNC:16509 Unspecified SSX2IP +OMIM:608690 skos:exactMatch UMLS:C1424341 Unspecified SSX2IP +OMIM:608690 skos:exactMatch HGNC_symbol:SSX2IP Unspecified SSX2IP +OMIM:606034 skos:exactMatch HGNC_symbol:RNASEH2A Unspecified RNASEH2A +OMIM:606034 skos:exactMatch HGNC:18518 Unspecified RNASEH2A +OMIM:606034 skos:exactMatch UMLS:C1835912 Unspecified RNASEH2A +OMIM:606034 skos:exactMatch UMLS:C1425573 Unspecified RNASEH2A +OMIM:608697 skos:exactMatch HGNC_symbol:FIGLA Unspecified FIGLA +OMIM:608697 skos:exactMatch HGNC:24669 Unspecified FIGLA +OMIM:608697 skos:exactMatch UMLS:C1825298 Unspecified FIGLA +OMIM:138130 skos:exactMatch HGNC:4335 Unspecified GLUD1 +OMIM:138130 skos:exactMatch UMLS:C1415113 Unspecified GLUD1 +OMIM:138130 skos:exactMatch HGNC_symbol:GLUD1 Unspecified GLUD1 +OMIM:608696 skos:exactMatch UMLS:C1837527 Unspecified glaucoma 1, open angle, k +OMIM:606035 skos:exactMatch UMLS:C2676369 Unspecified fasting insulin level quantitative trait locus 1 +OMIM:606032 skos:exactMatch HGNC_symbol:SRRM2 Unspecified SRRM2 +OMIM:606032 skos:exactMatch HGNC:16639 Unspecified SRRM2 +OMIM:606032 skos:exactMatch UMLS:C1424458 Unspecified SRRM2 +OMIM:608695 skos:exactMatch UMLS:C1837528 Unspecified glaucoma 1, open angle, j +OMIM:608694 skos:exactMatch HGNC:30958 Unspecified ZNF622 +OMIM:608694 skos:exactMatch UMLS:C1538201 Unspecified ZNF622 +OMIM:608694 skos:exactMatch HGNC_symbol:ZNF622 Unspecified ZNF622 +OMIM:606033 skos:exactMatch HGNC_symbol:POLR2K Unspecified POLR2K +OMIM:606033 skos:exactMatch UMLS:C1418749 Unspecified POLR2K +OMIM:606033 skos:exactMatch HGNC:9198 Unspecified POLR2K +OMIM:606038 skos:exactMatch HGNC:13935 Unspecified LY6G6D +OMIM:606038 skos:exactMatch UMLS:C1422283 Unspecified LY6G6D +OMIM:606038 skos:exactMatch HGNC_symbol:LY6G6D Unspecified LY6G6D +OMIM:606039 skos:exactMatch UMLS:C1333902 Unspecified HCAR3 +OMIM:606039 skos:exactMatch HGNC_symbol:HCAR3 Unspecified HCAR3 +OMIM:606039 skos:exactMatch HGNC:16824 Unspecified HCAR3 +OMIM:606036 skos:exactMatch UMLS:C1332115 Unspecified ARNT2 +OMIM:606036 skos:exactMatch UMLS:C4014708 Unspecified ARNT2 +OMIM:606036 skos:exactMatch HGNC:16876 Unspecified ARNT2 +OMIM:606036 skos:exactMatch HGNC_symbol:ARNT2 Unspecified ARNT2 +OMIM:608699 skos:exactMatch HGNC:24154 Unspecified BMPER +OMIM:608699 skos:exactMatch UMLS:C1826624 Unspecified BMPER +OMIM:608699 skos:exactMatch UMLS:C1842691 Unspecified BMPER +OMIM:608699 skos:exactMatch HGNC_symbol:BMPER Unspecified BMPER +OMIM:606037 skos:exactMatch UMLS:C1424619 Unspecified CD96 +OMIM:606037 skos:exactMatch HGNC_symbol:CD96 Unspecified CD96 +OMIM:606037 skos:exactMatch HGNC:16892 Unspecified CD96 +OMIM:608698 skos:exactMatch UMLS:C1539222 Unspecified DCBLD2 +OMIM:608698 skos:exactMatch HGNC:24627 Unspecified DCBLD2 +OMIM:608698 skos:exactMatch HGNC_symbol:DCBLD2 Unspecified DCBLD2 +OMIM:606018 skos:exactMatch UMLS:C1414259 Unspecified EDIL3 +OMIM:606018 skos:exactMatch HGNC:3173 Unspecified EDIL3 +OMIM:606018 skos:exactMatch HGNC_symbol:EDIL3 Unspecified EDIL3 +OMIM:606019 skos:exactMatch UMLS:C1424701 Unspecified EXOSC8 +OMIM:606019 skos:exactMatch HGNC_symbol:EXOSC8 Unspecified EXOSC8 +OMIM:606019 skos:exactMatch HGNC:17035 Unspecified EXOSC8 +OMIM:618001 skos:exactMatch HGNC_symbol:RELCH Unspecified RELCH +OMIM:618001 skos:exactMatch HGNC:29289 Unspecified RELCH +OMIM:618001 skos:exactMatch UMLS:C1428824 Unspecified RELCH +OMIM:618000 skos:exactMatch UMLS:C4693870 Unspecified ehlers-danlos syndrome, classic-like, 2 +OMIM:618003 skos:exactMatch UMLS:C4693893 Unspecified deafness, autosomal recessive 57 +OMIM:618002 skos:exactMatch HGNC:19037 Unspecified MAST4 +OMIM:618002 skos:exactMatch UMLS:C1537670 Unspecified MAST4 +OMIM:618002 skos:exactMatch HGNC_symbol:MAST4 Unspecified MAST4 +OMIM:618005 skos:exactMatch UMLS:C4693905 Unspecified congenital disorder of glycosylation with defective fucosylation 1 +OMIM:618004 skos:exactMatch UMLS:C4693899 Unspecified developmental and epileptic encephalopathy 64 +OMIM:618006 skos:exactMatch UMLS:C4693912 Unspecified leukodystrophy, hypomyelinating, 17 +OMIM:177735 skos:exactMatch UMLS:C1449842 Unspecified pseudohypoaldosteronism, iia i, autosomal dominant +OMIM:608682 skos:exactMatch UMLS:C1428749 Unspecified ADM2 +OMIM:608682 skos:exactMatch HGNC:28898 Unspecified ADM2 +OMIM:608682 skos:exactMatch HGNC_symbol:ADM2 Unspecified ADM2 +OMIM:608681 skos:exactMatch UMLS:C1837549 Unspecified spondylocostal dysostosis 2, autosomal recessive +OMIM:606020 skos:exactMatch UMLS:C1538530 Unspecified OIP5 +OMIM:606020 skos:exactMatch HGNC_symbol:OIP5 Unspecified OIP5 +OMIM:606020 skos:exactMatch HGNC:20300 Unspecified OIP5 +OMIM:608680 skos:exactMatch HGNC:24259 Unspecified TPRKB +OMIM:608680 skos:exactMatch UMLS:C1823469 Unspecified TPRKB +OMIM:608680 skos:exactMatch HGNC_symbol:TPRKB Unspecified TPRKB +OMIM:151100 skos:exactMatch UMLS:C4551484 Unspecified leopard syndrome 1 +OMIM:151100 skos:exactMatch UMLS:C0175704 Unspecified leopard syndrome 1 +OMIM:151100 skos:exactMatch ORPHA:500 Unspecified leopard syndrome 1 +OMIM:606023 skos:exactMatch HGNC_symbol:POLR2H Unspecified POLR2H +OMIM:606023 skos:exactMatch UMLS:C1418746 Unspecified POLR2H +OMIM:606023 skos:exactMatch HGNC:9195 Unspecified POLR2H +OMIM:608686 skos:exactMatch UMLS:C1424340 Unspecified RAB3IP +OMIM:608686 skos:exactMatch HGNC:16508 Unspecified RAB3IP +OMIM:608686 skos:exactMatch HGNC_symbol:RAB3IP Unspecified RAB3IP +OMIM:608685 skos:exactMatch HGNC:11112 Unspecified SMC1B +OMIM:608685 skos:exactMatch HGNC_symbol:SMC1B Unspecified SMC1B +OMIM:608685 skos:exactMatch UMLS:C1822778 Unspecified SMC1B +OMIM:138140 skos:exactMatch HGNC_symbol:SLC2A1 Unspecified SLC2A1 +OMIM:138140 skos:exactMatch UMLS:C1335837 Unspecified SLC2A1 +OMIM:138140 skos:exactMatch HGNC:11005 Unspecified SLC2A1 +OMIM:606021 skos:exactMatch HGNC_symbol:PRAME Unspecified PRAME +OMIM:606021 skos:exactMatch UMLS:C1418865 Unspecified PRAME +OMIM:606021 skos:exactMatch HGNC:9336 Unspecified PRAME +OMIM:608684 skos:exactMatch UMLS:C1423043 Unspecified NIN +OMIM:608684 skos:exactMatch HGNC:14906 Unspecified NIN +OMIM:608684 skos:exactMatch HGNC_symbol:NIN Unspecified NIN +OMIM:606022 skos:exactMatch HGNC_symbol:NUDT9 Unspecified NUDT9 +OMIM:606022 skos:exactMatch UMLS:C1417887 Unspecified NUDT9 +OMIM:606022 skos:exactMatch HGNC:8056 Unspecified NUDT9 +OMIM:608683 skos:exactMatch HGNC_symbol:CST8 Unspecified CST8 +OMIM:608683 skos:exactMatch HGNC:2480 Unspecified CST8 +OMIM:608683 skos:exactMatch UMLS:C1413777 Unspecified CST8 +OMIM:606027 skos:exactMatch HGNC_symbol:CPSF1 Unspecified CPSF1 +OMIM:606027 skos:exactMatch UMLS:C1413684 Unspecified CPSF1 +OMIM:606027 skos:exactMatch UMLS:C5394215 Unspecified CPSF1 +OMIM:606027 skos:exactMatch HGNC:2324 Unspecified CPSF1 +OMIM:608689 skos:exactMatch HGNC_symbol:MESP1 Unspecified MESP1 +OMIM:608689 skos:exactMatch UMLS:C1825968 Unspecified MESP1 +OMIM:608689 skos:exactMatch HGNC:29658 Unspecified MESP1 +OMIM:606028 skos:exactMatch HGNC_symbol:CPSF2 Unspecified CPSF2 +OMIM:606028 skos:exactMatch UMLS:C1413685 Unspecified CPSF2 +OMIM:606028 skos:exactMatch HGNC:2325 Unspecified CPSF2 +OMIM:606025 skos:exactMatch UMLS:C0796121 Unspecified ZBTB20 +OMIM:606025 skos:exactMatch HGNC:13503 Unspecified ZBTB20 +OMIM:606025 skos:exactMatch UMLS:C1538150 Unspecified ZBTB20 +OMIM:606025 skos:exactMatch HGNC_symbol:ZBTB20 Unspecified ZBTB20 +OMIM:608688 skos:exactMatch ORPHA:250977 Unspecified aica-ribosuria due to atic deficiency +OMIM:608688 skos:exactMatch UMLS:C1837530 Unspecified aica-ribosuria due to atic deficiency +OMIM:606026 skos:exactMatch HGNC:12768 Unspecified NELFA +OMIM:606026 skos:exactMatch HGNC_symbol:NELFA Unspecified NELFA +OMIM:606026 skos:exactMatch UMLS:C1421507 Unspecified NELFA +OMIM:608687 skos:exactMatch UMLS:C1837541 Unspecified spinocerebellar ataxia 20 +OMIM:606009 skos:exactMatch UMLS:C1414197 Unspecified DUX4 +OMIM:606009 skos:exactMatch HGNC:50800 Unspecified DUX4 +OMIM:606009 skos:exactMatch HGNC_symbol:DUX4 Unspecified DUX4 +OMIM:606007 skos:exactMatch HGNC:14121 Unspecified POLR3K +OMIM:606007 skos:exactMatch HGNC_symbol:POLR3K Unspecified POLR3K +OMIM:606007 skos:exactMatch UMLS:C1422418 Unspecified POLR3K +OMIM:606008 skos:exactMatch HGNC_symbol:NKG7 Unspecified NKG7 +OMIM:606008 skos:exactMatch HGNC:7830 Unspecified NKG7 +OMIM:606008 skos:exactMatch UMLS:C1417733 Unspecified NKG7 +OMIM:608669 skos:exactMatch HGNC_symbol:BNC2 Unspecified BNC2 +OMIM:608669 skos:exactMatch HGNC:30988 Unspecified BNC2 +OMIM:608669 skos:exactMatch UMLS:C5231427 Unspecified BNC2 +OMIM:608669 skos:exactMatch UMLS:C1538958 Unspecified BNC2 +OMIM:261515 skos:exactMatch UMLS:C0342870 Unspecified d-bifunctional protein deficiency +OMIM:608671 skos:exactMatch UMLS:C5436818 Unspecified DZIP1 +OMIM:608671 skos:exactMatch UMLS:C1427196 Unspecified DZIP1 +OMIM:608671 skos:exactMatch HGNC_symbol:DZIP1 Unspecified DZIP1 +OMIM:608671 skos:exactMatch HGNC:20908 Unspecified DZIP1 +OMIM:608671 skos:exactMatch UMLS:C1835814 Unspecified DZIP1 +OMIM:608670 skos:exactMatch UMLS:C1837564 Unspecified robin sequence with distinctive facial appearance and brachydactyly +OMIM:608675 skos:exactMatch HGNC_symbol:FCSK Unspecified FCSK +OMIM:608675 skos:exactMatch HGNC:29500 Unspecified FCSK +OMIM:608675 skos:exactMatch UMLS:C1428864 Unspecified FCSK +OMIM:606012 skos:exactMatch UMLS:C1853760 Unspecified deafness, autosomal dominant 18 +OMIM:606013 skos:exactMatch HGNC:13584 Unspecified FBXO5 +OMIM:606013 skos:exactMatch UMLS:C1422079 Unspecified FBXO5 +OMIM:606013 skos:exactMatch HGNC_symbol:FBXO5 Unspecified FBXO5 +OMIM:608674 skos:exactMatch HGNC:30418 Unspecified None +OMIM:608674 skos:exactMatch UMLS:C1837551 Unspecified None +OMIM:608674 skos:exactMatch UMLS:C1837550 Unspecified None +OMIM:608674 skos:exactMatch HGNC_symbol:SH3D19 Unspecified None +OMIM:606010 skos:exactMatch UMLS:C1709139 Unspecified NRBP1 +OMIM:606010 skos:exactMatch HGNC:7993 Unspecified NRBP1 +OMIM:606010 skos:exactMatch HGNC_symbol:NRBP1 Unspecified NRBP1 +OMIM:608673 skos:exactMatch UMLS:C1837552 Unspecified charcot-marie-tooth disease, axonal, iia 2l +OMIM:606011 skos:exactMatch HGNC_symbol:VSIG2 Unspecified VSIG2 +OMIM:606011 skos:exactMatch UMLS:C1538070 Unspecified VSIG2 +OMIM:606011 skos:exactMatch HGNC:17149 Unspecified VSIG2 +OMIM:608672 skos:exactMatch HGNC:30938 Unspecified DZIP3 +OMIM:608672 skos:exactMatch UMLS:C1837563 Unspecified DZIP3 +OMIM:608672 skos:exactMatch HGNC_symbol:DZIP3 Unspecified DZIP3 +OMIM:606016 skos:exactMatch UMLS:C1427969 Unspecified KEAP1 +OMIM:606016 skos:exactMatch HGNC_symbol:KEAP1 Unspecified KEAP1 +OMIM:606016 skos:exactMatch HGNC:23177 Unspecified KEAP1 +OMIM:608679 skos:exactMatch HGNC_symbol:TP53RK Unspecified TP53RK +OMIM:608679 skos:exactMatch UMLS:C1540041 Unspecified TP53RK +OMIM:608679 skos:exactMatch HGNC:16197 Unspecified TP53RK +OMIM:608679 skos:exactMatch UMLS:C4540270 Unspecified TP53RK +OMIM:606017 skos:exactMatch HGNC_symbol:POLR2D Unspecified POLR2D +OMIM:606017 skos:exactMatch UMLS:C1418742 Unspecified POLR2D +OMIM:606017 skos:exactMatch HGNC:9191 Unspecified POLR2D +OMIM:608678 skos:exactMatch HGNC_symbol:IL33 Unspecified IL33 +OMIM:608678 skos:exactMatch UMLS:C1825595 Unspecified IL33 +OMIM:608678 skos:exactMatch HGNC:16028 Unspecified IL33 +OMIM:138150 skos:exactMatch UMLS:C1415182 Unspecified GOT2 +OMIM:138150 skos:exactMatch HGNC_symbol:GOT2 Unspecified GOT2 +OMIM:138150 skos:exactMatch UMLS:C5231473 Unspecified GOT2 +OMIM:138150 skos:exactMatch HGNC:4433 Unspecified GOT2 +OMIM:608677 skos:exactMatch UMLS:C1537692 Unspecified MIB1 +OMIM:608677 skos:exactMatch HGNC:21086 Unspecified MIB1 +OMIM:608677 skos:exactMatch HGNC_symbol:MIB1 Unspecified MIB1 +OMIM:606014 skos:exactMatch UMLS:C1412372 Unspecified ALX3 +OMIM:606014 skos:exactMatch HGNC_symbol:ALX3 Unspecified ALX3 +OMIM:606014 skos:exactMatch HGNC:449 Unspecified ALX3 +OMIM:608676 skos:exactMatch HGNC_symbol:TXLNA Unspecified TXLNA +OMIM:608676 skos:exactMatch HGNC:30685 Unspecified TXLNA +OMIM:608676 skos:exactMatch UMLS:C1823557 Unspecified TXLNA +OMIM:606015 skos:exactMatch HGNC:14315 Unspecified FAIM3 +OMIM:606015 skos:exactMatch UMLS:C1539386 Unspecified FAIM3 +OMIM:606015 skos:exactMatch HGNC_symbol:FCMR Unspecified FAIM3 +OMIM:618061 skos:exactMatch UMLS:C4748044 Unspecified polycystic kidney disease 6 with or without polycystic liver disease +OMIM:618060 skos:exactMatch UMLS:C4748041 Unspecified intellectual developmental disorder with or without epilepsy or cerebellar ataxia +OMIM:618063 skos:exactMatch UMLS:C4748052 Unspecified ciliary dyskinesia, primary, 38 +OMIM:618062 skos:exactMatch HGNC:16904 Unspecified CRISP3 +OMIM:618062 skos:exactMatch UMLS:C1424625 Unspecified CRISP3 +OMIM:618062 skos:exactMatch HGNC_symbol:CRISP3 Unspecified CRISP3 +OMIM:618065 skos:exactMatch UMLS:C4748058 Unspecified pontocerebellar hypoplasia, iia 1d +OMIM:618064 skos:exactMatch HGNC:20213 Unspecified COX16 +OMIM:618064 skos:exactMatch UMLS:C1426780 Unspecified COX16 +OMIM:618064 skos:exactMatch HGNC_symbol:COX16 Unspecified COX16 +OMIM:618067 skos:exactMatch UMLS:C4748070 Unspecified developmental and epileptic encephalopathy 66 +OMIM:618066 skos:exactMatch HGNC:43744 Unspecified HOXBAS1 +OMIM:618066 skos:exactMatch UMLS:C3470479 Unspecified HOXBAS1 +OMIM:618066 skos:exactMatch HGNC_symbol:HOXB-AS1 Unspecified HOXBAS1 +OMIM:618069 skos:exactMatch HGNC_symbol:CNOT6L Unspecified CNOT6L +OMIM:618069 skos:exactMatch UMLS:C1425262 Unspecified CNOT6L +OMIM:618069 skos:exactMatch HGNC:18042 Unspecified CNOT6L +OMIM:224550 skos:exactMatch UMLS:C1857089 Unspecified dystonia with ringbinden +OMIM:618068 skos:exactMatch UMLS:C1823123 Unspecified SPZ1 +OMIM:618068 skos:exactMatch HGNC:30721 Unspecified SPZ1 +OMIM:618068 skos:exactMatch HGNC_symbol:SPZ1 Unspecified SPZ1 +OMIM:261500 skos:exactMatch UMLS:C1850000 Unspecified eosinophil peroxidase deficiency +OMIM:606081 skos:exactMatch HGNC_symbol:TOMM70 Unspecified TOMM70 +OMIM:606081 skos:exactMatch HGNC:11985 Unspecified TOMM70 +OMIM:606081 skos:exactMatch UMLS:C1420857 Unspecified TOMM70 +OMIM:606081 skos:exactMatch UMLS:C2986382 Unspecified TOMM70 +OMIM:606082 skos:exactMatch UMLS:C1853686 Unspecified goiter, multinodular 3 +OMIM:606080 skos:exactMatch HGNC_symbol:CHIA Unspecified CHIA +OMIM:606080 skos:exactMatch HGNC:17432 Unspecified CHIA +OMIM:606080 skos:exactMatch UMLS:C1824735 Unspecified CHIA +OMIM:606085 skos:exactMatch HGNC:14620 Unspecified TES +OMIM:606085 skos:exactMatch HGNC_symbol:TES Unspecified TES +OMIM:606085 skos:exactMatch UMLS:C1422793 Unspecified TES +OMIM:606086 skos:exactMatch HGNC_symbol:EIF5B Unspecified EIF5B +OMIM:606086 skos:exactMatch HGNC:30793 Unspecified EIF5B +OMIM:606086 skos:exactMatch UMLS:C1429001 Unspecified EIF5B +OMIM:606083 skos:exactMatch UMLS:C1853685 Unspecified PBRM1 +OMIM:606083 skos:exactMatch HGNC:30064 Unspecified PBRM1 +OMIM:606083 skos:exactMatch HGNC_symbol:PBRM1 Unspecified PBRM1 +OMIM:606084 skos:exactMatch HGNC_symbol:CDC42EP1 Unspecified CDC42EP1 +OMIM:606084 skos:exactMatch UMLS:C1424686 Unspecified CDC42EP1 +OMIM:606084 skos:exactMatch HGNC:17014 Unspecified CDC42EP1 +OMIM:606089 skos:exactMatch HGNC:1022 Unspecified BCYRN1 +OMIM:606089 skos:exactMatch UMLS:C1412778 Unspecified BCYRN1 +OMIM:606089 skos:exactMatch HGNC_symbol:BCYRN1 Unspecified BCYRN1 +OMIM:606087 skos:exactMatch UMLS:C1428377 Unspecified SYNM +OMIM:606087 skos:exactMatch HGNC:24466 Unspecified SYNM +OMIM:606087 skos:exactMatch HGNC_symbol:SYNM Unspecified SYNM +OMIM:177750 skos:exactMatch UMLS:C0432346 Unspecified pseudomonilethrix +OMIM:606088 skos:exactMatch HGNC:9036 Unspecified PLA2G4B +OMIM:606088 skos:exactMatch HGNC_symbol:PLA2G4B Unspecified PLA2G4B +OMIM:606088 skos:exactMatch UMLS:C1418621 Unspecified PLA2G4B +OMIM:138160 skos:exactMatch UMLS:C3837967 Unspecified SLC2A2 +OMIM:138160 skos:exactMatch HGNC:11006 Unspecified SLC2A2 +OMIM:138160 skos:exactMatch UMLS:C3495427 Unspecified SLC2A2 +OMIM:138160 skos:exactMatch UMLS:C1420172 Unspecified SLC2A2 +OMIM:138160 skos:exactMatch HGNC_symbol:SLC2A2 Unspecified SLC2A2 +OMIM:618050 skos:exactMatch UMLS:C4748003 Unspecified mental retardation, autosomal dominant 57 +OMIM:618052 skos:exactMatch UMLS:C4748014 Unspecified cardiomyopathy, familial hypertrophic 27 +OMIM:163100 skos:exactMatch UMLS:C2697447 Unspecified nevus flammeus of nape of neck +OMIM:618051 skos:exactMatch UMLS:C1823726 Unspecified INAVA +OMIM:618051 skos:exactMatch HGNC:25599 Unspecified INAVA +OMIM:618051 skos:exactMatch HGNC_symbol:INAVA Unspecified INAVA +OMIM:618054 skos:exactMatch HGNC_symbol:MINAR1 Unspecified MINAR1 +OMIM:618054 skos:exactMatch HGNC:29172 Unspecified MINAR1 +OMIM:618054 skos:exactMatch UMLS:C2239559 Unspecified MINAR1 +OMIM:618053 skos:exactMatch HGNC_symbol:ARLNC1 Unspecified ARLNC1 +OMIM:618053 skos:exactMatch HGNC:53032 Unspecified ARLNC1 +OMIM:618053 skos:exactMatch UMLS:C4320336 Unspecified ARLNC1 +OMIM:618056 skos:exactMatch UMLS:C4748032 Unspecified neurodevelopmental disorder with cerebellar atrophy and with or without seizures +OMIM:618055 skos:exactMatch HGNC:2351 Unspecified CREG1 +OMIM:618055 skos:exactMatch UMLS:C1539137 Unspecified CREG1 +OMIM:618055 skos:exactMatch HGNC_symbol:CREG1 Unspecified CREG1 +OMIM:618058 skos:exactMatch UMLS:C4748052 Unspecified CFAP300 +OMIM:618058 skos:exactMatch HGNC_symbol:CFAP300 Unspecified CFAP300 +OMIM:618058 skos:exactMatch UMLS:C1824336 Unspecified CFAP300 +OMIM:618058 skos:exactMatch HGNC:28188 Unspecified CFAP300 +OMIM:618057 skos:exactMatch UMLS:C4749152 Unspecified drug metabolism, altered, ces1-related +OMIM:618057 skos:exactMatch UMLS:C4748035 Unspecified drug metabolism, altered, ces1-related +OMIM:618057 skos:exactMatch UMLS:C1861889 Unspecified drug metabolism, altered, ces1-related +OMIM:618059 skos:exactMatch HGNC_symbol:WDR25 Unspecified WDR25 +OMIM:618059 skos:exactMatch HGNC:21064 Unspecified WDR25 +OMIM:618059 skos:exactMatch UMLS:C1823821 Unspecified WDR25 +OMIM:606070 skos:exactMatch UMLS:C3807521 Unspecified amyotrophic lateral sclerosis 21 +OMIM:606071 skos:exactMatch UMLS:C1853710 Unspecified hereditary motor and sensory neuropathy, iia 2c +OMIM:606074 skos:exactMatch HGNC:20460 Unspecified GBGT1 +OMIM:606074 skos:exactMatch UMLS:C1539554 Unspecified GBGT1 +OMIM:606074 skos:exactMatch HGNC_symbol:GBGT1 Unspecified GBGT1 +OMIM:606075 skos:exactMatch UMLS:C1849096 Unspecified TWNK +OMIM:606075 skos:exactMatch HGNC:1160 Unspecified TWNK +OMIM:606075 skos:exactMatch UMLS:C1836439 Unspecified TWNK +OMIM:606075 skos:exactMatch HGNC_symbol:TWNK Unspecified TWNK +OMIM:606075 skos:exactMatch UMLS:C1868097 Unspecified TWNK +OMIM:606075 skos:exactMatch UMLS:C4015307 Unspecified TWNK +OMIM:606075 skos:exactMatch UMLS:C1418458 Unspecified TWNK +OMIM:606072 skos:exactMatch UMLS:C1853698 Unspecified rippling muscle disease 2 +OMIM:606072 skos:exactMatch UMLS:C1832560 Unspecified rippling muscle disease 2 +OMIM:606073 skos:exactMatch HGNC:29838 Unspecified NDOR1 +OMIM:606073 skos:exactMatch UMLS:C1538051 Unspecified NDOR1 +OMIM:606073 skos:exactMatch HGNC_symbol:NDOR1 Unspecified NDOR1 +OMIM:606078 skos:exactMatch HGNC_symbol:MRTFA Unspecified MRTFA +OMIM:606078 skos:exactMatch HGNC:14334 Unspecified MRTFA +OMIM:606078 skos:exactMatch UMLS:C5394265 Unspecified MRTFA +OMIM:606078 skos:exactMatch UMLS:C1422572 Unspecified MRTFA +OMIM:606079 skos:exactMatch UMLS:C1824673 Unspecified CD163L1 +OMIM:606079 skos:exactMatch HGNC_symbol:CD163L1 Unspecified CD163L1 +OMIM:606079 skos:exactMatch HGNC:30375 Unspecified CD163L1 +OMIM:606076 skos:exactMatch HGNC_symbol:PIK3R3 Unspecified PIK3R3 +OMIM:606076 skos:exactMatch UMLS:C1335215 Unspecified PIK3R3 +OMIM:606076 skos:exactMatch HGNC:8981 Unspecified PIK3R3 +OMIM:606077 skos:exactMatch HGNC_symbol:RBM15 Unspecified RBM15 +OMIM:606077 skos:exactMatch UMLS:C3888092 Unspecified RBM15 +OMIM:606077 skos:exactMatch HGNC:14959 Unspecified RBM15 +OMIM:606077 skos:exactMatch UMLS:C1423088 Unspecified RBM15 +OMIM:138170 skos:exactMatch UMLS:C1841918 Unspecified SLC2A3 +OMIM:138170 skos:exactMatch HGNC:11007 Unspecified SLC2A3 +OMIM:138170 skos:exactMatch UMLS:C1420173 Unspecified SLC2A3 +OMIM:138170 skos:exactMatch UMLS:C1420174 Unspecified SLC2A3 +OMIM:138170 skos:exactMatch HGNC_symbol:SLC2A3 Unspecified SLC2A3 +OMIM:618041 skos:exactMatch UMLS:C4749151 Unspecified PURG +OMIM:618041 skos:exactMatch UMLS:C4749150 Unspecified PURG +OMIM:618041 skos:exactMatch HGNC_symbol:PURG Unspecified PURG +OMIM:618041 skos:exactMatch HGNC:17930 Unspecified PURG +OMIM:618041 skos:exactMatch UMLS:C1425184 Unspecified PURG +OMIM:618040 skos:exactMatch HGNC_symbol:DGCR5 Unspecified DGCR5 +OMIM:618040 skos:exactMatch HGNC:16757 Unspecified DGCR5 +OMIM:618040 skos:exactMatch UMLS:C1424521 Unspecified DGCR5 +OMIM:618043 skos:exactMatch UMLS:C1418771 Unspecified POU6F1 +OMIM:618043 skos:exactMatch HGNC:9224 Unspecified POU6F1 +OMIM:618043 skos:exactMatch HGNC_symbol:POU6F1 Unspecified POU6F1 +OMIM:618042 skos:exactMatch UMLS:C4747984 Unspecified pulmonary alveolar proteinosis with hypogammaglobulinemia +OMIM:618045 skos:exactMatch HGNC_symbol:DDIAS Unspecified DDIAS +OMIM:618045 skos:exactMatch UMLS:C2240301 Unspecified DDIAS +OMIM:618045 skos:exactMatch HGNC:26351 Unspecified DDIAS +OMIM:618044 skos:exactMatch HGNC:29062 Unspecified C2CD5 +OMIM:618044 skos:exactMatch UMLS:C3542833 Unspecified C2CD5 +OMIM:618044 skos:exactMatch HGNC_symbol:C2CD5 Unspecified C2CD5 +OMIM:618047 skos:exactMatch HGNC_symbol:OR1A2 Unspecified OR1A2 +OMIM:618047 skos:exactMatch UMLS:C1417985 Unspecified OR1A2 +OMIM:618047 skos:exactMatch HGNC:8180 Unspecified OR1A2 +OMIM:618046 skos:exactMatch HGNC_symbol:OR1A1 Unspecified OR1A1 +OMIM:618046 skos:exactMatch UMLS:C1417984 Unspecified OR1A1 +OMIM:618046 skos:exactMatch HGNC:8179 Unspecified OR1A1 +OMIM:248500 skos:exactMatch UMLS:C0024748 Unspecified mannosidosis, alpha b, lysosomal +OMIM:248500 skos:exactMatch ORPHA:309288 Unspecified mannosidosis, alpha b, lysosomal +OMIM:248500 skos:exactMatch ORPHA:309282 Unspecified mannosidosis, alpha b, lysosomal +OMIM:248500 skos:exactMatch ORPHA:61 Unspecified mannosidosis, alpha b, lysosomal +OMIM:618049 skos:exactMatch UMLS:C4747991 Unspecified parkinsonism-dystonia 2, infantile-onset +OMIM:618048 skos:exactMatch UMLS:C4747989 Unspecified proteasome-associated autoinflammatory syndrome 2 +OMIM:606060 skos:exactMatch HGNC:28908 Unspecified DNAJC12 +OMIM:606060 skos:exactMatch HGNC_symbol:DNAJC12 Unspecified DNAJC12 +OMIM:606060 skos:exactMatch UMLS:C1539297 Unspecified DNAJC12 +OMIM:606063 skos:exactMatch HGNC:3511 Unspecified EXO1 +OMIM:606063 skos:exactMatch HGNC_symbol:EXO1 Unspecified EXO1 +OMIM:606063 skos:exactMatch UMLS:C1333365 Unspecified EXO1 +OMIM:606064 skos:exactMatch HGNC:18219 Unspecified CD248 +OMIM:606064 skos:exactMatch UMLS:C1540291 Unspecified CD248 +OMIM:606064 skos:exactMatch HGNC_symbol:CD248 Unspecified CD248 +OMIM:606061 skos:exactMatch UMLS:C1420609 Unspecified TBX20 +OMIM:606061 skos:exactMatch UMLS:C1969657 Unspecified TBX20 +OMIM:606061 skos:exactMatch HGNC_symbol:TBX20 Unspecified TBX20 +OMIM:606061 skos:exactMatch HGNC:11598 Unspecified TBX20 +OMIM:606062 skos:exactMatch UMLS:C1853099 Unspecified SMC3 +OMIM:606062 skos:exactMatch HGNC:2468 Unspecified SMC3 +OMIM:606062 skos:exactMatch UMLS:C1822780 Unspecified SMC3 +OMIM:606062 skos:exactMatch HGNC_symbol:SMC3 Unspecified SMC3 +OMIM:606062 skos:exactMatch UMLS:C5394608 Unspecified SMC3 +OMIM:606067 skos:exactMatch HGNC_symbol:OTOR Unspecified OTOR +OMIM:606067 skos:exactMatch HGNC:8517 Unspecified OTOR +OMIM:606067 skos:exactMatch UMLS:C1418197 Unspecified OTOR +OMIM:606068 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 28 +OMIM:606068 skos:exactMatch UMLS:C1419614 Unspecified retinitis pigmentosa 28 +OMIM:606065 skos:exactMatch HGNC_symbol:ACKR4 Unspecified ACKR4 +OMIM:606065 skos:exactMatch HGNC:1611 Unspecified ACKR4 +OMIM:606065 skos:exactMatch UMLS:C1332704 Unspecified ACKR4 +OMIM:606066 skos:exactMatch HGNC_symbol:LHX9 Unspecified LHX9 +OMIM:606066 skos:exactMatch HGNC:14222 Unspecified LHX9 +OMIM:606066 skos:exactMatch UMLS:C1422495 Unspecified LHX9 +OMIM:138180 skos:exactMatch HGNC:4432 Unspecified GOT1 +OMIM:138180 skos:exactMatch UMLS:C1415181 Unspecified GOT1 +OMIM:138180 skos:exactMatch HGNC_symbol:GOT1 Unspecified GOT1 +OMIM:606069 skos:exactMatch UMLS:C1853733 Unspecified hemochromatosis, iia 4 +OMIM:606069 skos:exactMatch ORPHA:139491 Unspecified hemochromatosis, iia 4 +OMIM:618030 skos:exactMatch HGNC:53826 Unspecified SHLD3 +OMIM:618030 skos:exactMatch HGNC_symbol:SHLD3 Unspecified SHLD3 +OMIM:618030 skos:exactMatch UMLS:C4747960 Unspecified SHLD3 +OMIM:618032 skos:exactMatch UMLS:C1824042 Unspecified ZNF768 +OMIM:618032 skos:exactMatch HGNC_symbol:ZNF768 Unspecified ZNF768 +OMIM:618032 skos:exactMatch HGNC:26273 Unspecified ZNF768 +OMIM:618031 skos:exactMatch UMLS:C4747961 Unspecified corneal dystrophy, posterior polymorphous, 4 +OMIM:618034 skos:exactMatch UMLS:C1424975 Unspecified SLC43A3 +OMIM:618034 skos:exactMatch HGNC:17466 Unspecified SLC43A3 +OMIM:618034 skos:exactMatch HGNC_symbol:SLC43A3 Unspecified SLC43A3 +OMIM:618033 skos:exactMatch HGNC_symbol:ZNF689 Unspecified ZNF689 +OMIM:618033 skos:exactMatch UMLS:C1823990 Unspecified ZNF689 +OMIM:618033 skos:exactMatch HGNC:25173 Unspecified ZNF689 +OMIM:618036 skos:exactMatch UMLS:C4747974 Unspecified charcot-marie-tooth disease, axonal, iia 2dd +OMIM:618035 skos:exactMatch UMLS:C1823242 Unspecified TBC1D9 +OMIM:618035 skos:exactMatch HGNC:21710 Unspecified TBC1D9 +OMIM:618035 skos:exactMatch HGNC_symbol:TBC1D9 Unspecified TBC1D9 +OMIM:248510 skos:exactMatch UMLS:C4048196 Unspecified mannosidosis, beta a, lysosomal +OMIM:618038 skos:exactMatch HGNC_symbol:SHOC1 Unspecified SHOC1 +OMIM:618038 skos:exactMatch UMLS:C1428602 Unspecified SHOC1 +OMIM:618038 skos:exactMatch HGNC:26535 Unspecified SHOC1 +OMIM:618037 skos:exactMatch HGNC:29025 Unspecified ZNF536 +OMIM:618037 skos:exactMatch HGNC_symbol:ZNF536 Unspecified ZNF536 +OMIM:618037 skos:exactMatch UMLS:C1428779 Unspecified ZNF536 +OMIM:618039 skos:exactMatch HGNC:29097 Unspecified TBC1D9B +OMIM:618039 skos:exactMatch UMLS:C1823243 Unspecified TBC1D9B +OMIM:618039 skos:exactMatch HGNC_symbol:TBC1D9B Unspecified TBC1D9B +OMIM:138190 skos:exactMatch HGNC:11009 Unspecified SLC2A4 +OMIM:138190 skos:exactMatch UMLS:C1420175 Unspecified SLC2A4 +OMIM:138190 skos:exactMatch HGNC_symbol:SLC2A4 Unspecified SLC2A4 +OMIM:606053 skos:exactMatch UMLS:C1853755 Unspecified intellectual developmental disorder with autism and speech delay +OMIM:606050 skos:exactMatch HGNC:18795 Unspecified UBD +OMIM:606050 skos:exactMatch UMLS:C1425779 Unspecified UBD +OMIM:606050 skos:exactMatch HGNC_symbol:UBD Unspecified UBD +OMIM:606051 skos:exactMatch HGNC:17499 Unspecified SERGEF +OMIM:606051 skos:exactMatch UMLS:C1822678 Unspecified SERGEF +OMIM:606051 skos:exactMatch HGNC_symbol:SERGEF Unspecified SERGEF +OMIM:606056 skos:exactMatch UMLS:C1853736 Unspecified congenital disorder of glycosylation, iia iib +OMIM:606057 skos:exactMatch HGNC:16629 Unspecified RAPGEF3 +OMIM:606057 skos:exactMatch HGNC_symbol:RAPGEF3 Unspecified RAPGEF3 +OMIM:606057 skos:exactMatch UMLS:C1424450 Unspecified RAPGEF3 +OMIM:606054 skos:exactMatch ORPHA:35 Unspecified propionic acidemia +OMIM:606054 skos:exactMatch UMLS:C0268579 Unspecified propionic acidemia +OMIM:606054 skos:exactMatch UMLS:C4551877 Unspecified propionic acidemia +OMIM:175100 skos:exactMatch ORPHA:247806 Unspecified familial adenomatous polyposis 1 +OMIM:175100 skos:exactMatch ORPHA:220460 Unspecified familial adenomatous polyposis 1 +OMIM:175100 skos:exactMatch UMLS:C0032580 Unspecified familial adenomatous polyposis 1 +OMIM:175100 skos:exactMatch UMLS:C2713442 Unspecified familial adenomatous polyposis 1 +OMIM:175100 skos:exactMatch ORPHA:99818 Unspecified familial adenomatous polyposis 1 +OMIM:175100 skos:exactMatch ORPHA:733 Unspecified familial adenomatous polyposis 1 +OMIM:175100 skos:exactMatch UMLS:C2674616 Unspecified familial adenomatous polyposis 1 +OMIM:175100 skos:exactMatch UMLS:C2673218 Unspecified familial adenomatous polyposis 1 +OMIM:175100 skos:exactMatch ORPHA:79665 Unspecified familial adenomatous polyposis 1 +OMIM:175100 skos:exactMatch UMLS:C0017097 Unspecified familial adenomatous polyposis 1 +OMIM:606055 skos:exactMatch UMLS:C1418395 Unspecified PCTP +OMIM:606055 skos:exactMatch HGNC:8752 Unspecified PCTP +OMIM:606055 skos:exactMatch HGNC_symbol:PCTP Unspecified PCTP +OMIM:606058 skos:exactMatch HGNC:16626 Unspecified RAPGEF4 +OMIM:606058 skos:exactMatch HGNC_symbol:RAPGEF4 Unspecified RAPGEF4 +OMIM:606058 skos:exactMatch UMLS:C1424447 Unspecified RAPGEF4 +OMIM:606059 skos:exactMatch HGNC_symbol:PKIA Unspecified PKIA +OMIM:606059 skos:exactMatch UMLS:C1418606 Unspecified PKIA +OMIM:606059 skos:exactMatch HGNC:9017 Unspecified PKIA +OMIM:138079 skos:exactMatch HGNC_symbol:GCK Unspecified GCK +OMIM:138079 skos:exactMatch UMLS:C5393570 Unspecified GCK +OMIM:138079 skos:exactMatch HGNC:4195 Unspecified GCK +OMIM:138079 skos:exactMatch UMLS:C0342277 Unspecified GCK +OMIM:138079 skos:exactMatch UMLS:C1415014 Unspecified GCK +OMIM:138079 skos:exactMatch UMLS:C0011860 Unspecified GCK +OMIM:138079 skos:exactMatch UMLS:C1865290 Unspecified GCK +OMIM:187000 skos:exactMatch UMLS:C1861275 Unspecified teeth, odd shapes of +OMIM:187000 skos:exactMatch UMLS:C1861274 Unspecified teeth, odd shapes of +OMIM:187000 skos:exactMatch UMLS:C1861276 Unspecified teeth, odd shapes of +OMIM:190650 skos:exactMatch UMLS:C1860805 Unspecified triphalangeal thumbs and dislocation of patella +OMIM:224500 skos:exactMatch UMLS:C1857093 Unspecified dystonia 2, torsion, autosomal recessive +OMIM:165680 skos:exactMatch UMLS:C1833790 Unspecified ossicular malformations, familial +OMIM:187011 skos:exactMatch UMLS:C1332691 Unspecified CCL5 +OMIM:187011 skos:exactMatch HGNC:10632 Unspecified CCL5 +OMIM:187011 skos:exactMatch HGNC_symbol:CCL5 Unspecified CCL5 +OMIM:138090 skos:exactMatch HGNC:4795 Unspecified H6PD +OMIM:138090 skos:exactMatch UMLS:C1415455 Unspecified H6PD +OMIM:138090 skos:exactMatch HGNC_symbol:H6PD Unspecified H6PD +OMIM:151050 skos:exactMatch UMLS:C0432269 Unspecified lenz-majewski hyperostotic dwarfism +OMIM:126190 skos:exactMatch UMLS:C1852073 Unspecified disproportionate short stature with ptosis and valvular heart lesions +OMIM:163050 skos:exactMatch UMLS:C0265982 Unspecified nevus anemicus +OMIM:212540 skos:exactMatch UMLS:C1876169 Unspecified cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome +OMIM:212540 skos:exactMatch UMLS:C1859312 Unspecified cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome +OMIM:126180 skos:exactMatch UMLS:C1852074 Unspecified discrimination, two-point, reduction 1n +OMIM:212550 skos:exactMatch UMLS:C4225424 Unspecified optic disc anomalies with retinal and/or macular dystrophy +OMIM:236500 skos:exactMatch UMLS:C1856053 Unspecified multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly +OMIM:200500 skos:exactMatch UMLS:C0265559 Unspecified acheiropody +OMIM:187040 skos:exactMatch UMLS:C0796355 Unspecified TAL1 +OMIM:187040 skos:exactMatch HGNC:11556 Unspecified TAL1 +OMIM:187040 skos:exactMatch HGNC_symbol:TAL1 Unspecified TAL1 +OMIM:175050 skos:exactMatch UMLS:C1832942 Unspecified juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +OMIM:114190 skos:exactMatch HGNC:16709 Unspecified CALCRL +OMIM:114190 skos:exactMatch UMLS:C1424497 Unspecified CALCRL +OMIM:114190 skos:exactMatch UMLS:C5231496 Unspecified CALCRL +OMIM:114190 skos:exactMatch HGNC_symbol:CALCRL Unspecified CALCRL +OMIM:187050 skos:exactMatch UMLS:C0027443 Unspecified teeth present at birth +OMIM:114184 skos:exactMatch HGNC_symbol:CALML3 Unspecified CALML3 +OMIM:114184 skos:exactMatch HGNC:1452 Unspecified CALML3 +OMIM:114184 skos:exactMatch UMLS:C1413095 Unspecified CALML3 +OMIM:114183 skos:exactMatch HGNC_symbol:CALM3 Unspecified CALM3 +OMIM:114183 skos:exactMatch HGNC:1449 Unspecified CALM3 +OMIM:114183 skos:exactMatch UMLS:C1413093 Unspecified CALM3 +OMIM:114183 skos:exactMatch UMLS:C5394068 Unspecified CALM3 +OMIM:114183 skos:exactMatch UMLS:C5394069 Unspecified CALM3 +OMIM:114182 skos:exactMatch HGNC:1445 Unspecified CALM2 +OMIM:114182 skos:exactMatch UMLS:C1413089 Unspecified CALM2 +OMIM:114182 skos:exactMatch UMLS:C4015695 Unspecified CALM2 +OMIM:114182 skos:exactMatch HGNC_symbol:CALM2 Unspecified CALM2 +OMIM:114180 skos:exactMatch HGNC:1442 Unspecified CALM1 +OMIM:114180 skos:exactMatch UMLS:C1332659 Unspecified CALM1 +OMIM:114180 skos:exactMatch UMLS:C4015671 Unspecified CALM1 +OMIM:114180 skos:exactMatch UMLS:C3554047 Unspecified CALM1 +OMIM:114180 skos:exactMatch HGNC_symbol:CALM1 Unspecified CALM1 +OMIM:187020 skos:exactMatch UMLS:C1420656 Unspecified TCP10 +OMIM:187020 skos:exactMatch HGNC_symbol:TCP10L3 Unspecified TCP10 +OMIM:187020 skos:exactMatch HGNC:11656 Unspecified TCP10 +OMIM:126150 skos:exactMatch HGNC:3059 Unspecified HBEGF +OMIM:126150 skos:exactMatch HGNC_symbol:HBEGF Unspecified HBEGF +OMIM:126150 skos:exactMatch UMLS:C1539630 Unspecified HBEGF +OMIM:212500 skos:exactMatch ORPHA:91492 Unspecified cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy +OMIM:212500 skos:exactMatch UMLS:C0220721 Unspecified cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy +OMIM:114170 skos:exactMatch HGNC:1481 Unspecified CAPNS1 +OMIM:114170 skos:exactMatch UMLS:C1413114 Unspecified CAPNS1 +OMIM:114170 skos:exactMatch HGNC_symbol:CAPNS1 Unspecified CAPNS1 +OMIM:190685 skos:exactMatch UMLS:C0013080 Unspecified down syndrome +OMIM:190685 skos:exactMatch UMLS:C1860787 Unspecified down syndrome +OMIM:190685 skos:exactMatch UMLS:C1860786 Unspecified down syndrome +OMIM:190685 skos:exactMatch UMLS:C1860789 Unspecified down syndrome +OMIM:190685 skos:exactMatch UMLS:C1860788 Unspecified down syndrome +OMIM:126141 skos:exactMatch HGNC:3010 Unspecified DPP6 +OMIM:126141 skos:exactMatch UMLS:C4225375 Unspecified DPP6 +OMIM:126141 skos:exactMatch UMLS:C2751829 Unspecified DPP6 +OMIM:126141 skos:exactMatch UMLS:C1414142 Unspecified DPP6 +OMIM:126141 skos:exactMatch HGNC_symbol:DPP6 Unspecified DPP6 +OMIM:187030 skos:exactMatch UMLS:C1861271 Unspecified t-complex locus tcp10b +OMIM:114160 skos:exactMatch HGNC_symbol:CALCB Unspecified CALCB +OMIM:114160 skos:exactMatch HGNC:1438 Unspecified CALCB +OMIM:114160 skos:exactMatch UMLS:C1413083 Unspecified CALCB +OMIM:190680 skos:exactMatch UMLS:C1860804 Unspecified triphalangeal thumbs with brachyectrodactyly +OMIM:114150 skos:exactMatch UMLS:C1861963 Unspecified camptobrachydactyly +OMIM:114131 skos:exactMatch HGNC_symbol:CALCR Unspecified CALCR +OMIM:114131 skos:exactMatch HGNC:1440 Unspecified CALCR +OMIM:114131 skos:exactMatch UMLS:C1413085 Unspecified CALCR +OMIM:126110 skos:exactMatch UMLS:C1332116 Unspecified ARNT +OMIM:126110 skos:exactMatch HGNC_symbol:ARNT Unspecified ARNT +OMIM:126110 skos:exactMatch HGNC:700 Unspecified ARNT +OMIM:126110 skos:exactMatch UMLS:C1852075 Unspecified ARNT +OMIM:114140 skos:exactMatch UMLS:C1861964 Unspecified callosities, hereditary painful +OMIM:116790 skos:exactMatch UMLS:C1861822 Unspecified COMT +OMIM:116790 skos:exactMatch HGNC:2228 Unspecified COMT +OMIM:116790 skos:exactMatch HGNC_symbol:COMT Unspecified COMT +OMIM:116790 skos:exactMatch UMLS:C1135159 Unspecified COMT +OMIM:126100 skos:exactMatch UMLS:C1852076 Unspecified dimples, facial +OMIM:114130 skos:exactMatch HGNC_symbol:CALCA Unspecified CALCA +OMIM:114130 skos:exactMatch UMLS:C1367551 Unspecified CALCA +OMIM:114130 skos:exactMatch HGNC:1437 Unspecified CALCA +OMIM:102150 skos:exactMatch UMLS:C0796280 Unspecified acromegaloid facial appearance syndrome +OMIM:114110 skos:exactMatch UMLS:C1419788 Unspecified S100A6 +OMIM:114110 skos:exactMatch HGNC:10496 Unspecified S100A6 +OMIM:114110 skos:exactMatch HGNC_symbol:S100A6 Unspecified S100A6 +OMIM:114105 skos:exactMatch HGNC:9314 Unspecified PPP3CA +OMIM:114105 skos:exactMatch HGNC_symbol:PPP3CA Unspecified PPP3CA +OMIM:114105 skos:exactMatch UMLS:C1418845 Unspecified PPP3CA +OMIM:114100 skos:exactMatch UMLS:C1861967 Unspecified basal ganglia calcification, idiopathic, childhood-onset +OMIM:114107 skos:exactMatch UMLS:C1418847 Unspecified PPP3CC +OMIM:114107 skos:exactMatch HGNC:9316 Unspecified PPP3CC +OMIM:114107 skos:exactMatch HGNC_symbol:PPP3CC Unspecified PPP3CC +OMIM:114106 skos:exactMatch UMLS:C1418846 Unspecified PPP3CB +OMIM:114106 skos:exactMatch HGNC:9315 Unspecified PPP3CB +OMIM:114106 skos:exactMatch HGNC_symbol:PPP3CB Unspecified PPP3CB +OMIM:104770 skos:exactMatch UMLS:C1456795 Unspecified APCS +OMIM:104770 skos:exactMatch HGNC_symbol:APCS Unspecified APCS +OMIM:104770 skos:exactMatch HGNC:584 Unspecified APCS +OMIM:104775 skos:exactMatch HGNC:597 Unspecified APLP1 +OMIM:104775 skos:exactMatch UMLS:C1412466 Unspecified APLP1 +OMIM:104775 skos:exactMatch HGNC_symbol:APLP1 Unspecified APLP1 +OMIM:104776 skos:exactMatch HGNC:598 Unspecified APLP2 +OMIM:104776 skos:exactMatch UMLS:C1412467 Unspecified APLP2 +OMIM:104776 skos:exactMatch HGNC_symbol:APLP2 Unspecified APLP2 +OMIM:104751 skos:exactMatch HGNC:10514 Unspecified SAA2 +OMIM:104751 skos:exactMatch HGNC_symbol:SAA2 Unspecified SAA2 +OMIM:104751 skos:exactMatch UMLS:C1419800 Unspecified SAA2 +OMIM:104750 skos:exactMatch HGNC:10513 Unspecified SAA1 +OMIM:104750 skos:exactMatch HGNC_symbol:SAA1 Unspecified SAA1 +OMIM:104750 skos:exactMatch UMLS:C1419799 Unspecified SAA1 +OMIM:104752 skos:exactMatch HGNC:10516 Unspecified SAA4 +OMIM:104752 skos:exactMatch HGNC_symbol:SAA4 Unspecified SAA4 +OMIM:104752 skos:exactMatch UMLS:C1419802 Unspecified SAA4 +OMIM:273490 skos:exactMatch UMLS:C2931220 Unspecified thalamic degeneration, symmetric infantile +OMIM:128710 skos:exactMatch UMLS:C3276675 Unspecified ear pits, posterior helical +OMIM:128710 skos:exactMatch UMLS:C1851900 Unspecified ear pits, posterior helical +OMIM:104760 skos:exactMatch UMLS:C2751494 Unspecified APP +OMIM:104760 skos:exactMatch HGNC_symbol:APP Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C3549448 Unspecified APP +OMIM:104760 skos:exactMatch HGNC:620 Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C2931672 Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C1863053 Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C1863052 Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C1364818 Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C3888307 Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C3888308 Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C3888309 Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C4015786 Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C4015785 Unspecified APP +OMIM:104760 skos:exactMatch UMLS:C4015784 Unspecified APP +OMIM:102100 skos:exactMatch UMLS:C1321495 Unspecified acromegaloid changes, cutis verticis gyrata, and corneal leukoma +OMIM:116845 skos:exactMatch HGNC_symbol:CTSS Unspecified CTSS +OMIM:116845 skos:exactMatch HGNC:2545 Unspecified CTSS +OMIM:116845 skos:exactMatch UMLS:C1413821 Unspecified CTSS +OMIM:608738 skos:exactMatch UMLS:C1538766 Unspecified RAB11FIP3 +OMIM:608738 skos:exactMatch HGNC:17224 Unspecified RAB11FIP3 +OMIM:608738 skos:exactMatch HGNC_symbol:RAB11FIP3 Unspecified RAB11FIP3 +OMIM:608737 skos:exactMatch UMLS:C1538764 Unspecified RAB11FIP1 +OMIM:608737 skos:exactMatch HGNC_symbol:RAB11FIP1 Unspecified RAB11FIP1 +OMIM:608737 skos:exactMatch HGNC:30265 Unspecified RAB11FIP1 +OMIM:608736 skos:exactMatch UMLS:C4310765 Unspecified SLC39A14 +OMIM:608736 skos:exactMatch UMLS:C1427165 Unspecified SLC39A14 +OMIM:608736 skos:exactMatch UMLS:C1840404 Unspecified SLC39A14 +OMIM:608736 skos:exactMatch HGNC:20858 Unspecified SLC39A14 +OMIM:608736 skos:exactMatch HGNC_symbol:SLC39A14 Unspecified SLC39A14 +OMIM:608735 skos:exactMatch UMLS:C1427166 Unspecified SLC39A13 +OMIM:608735 skos:exactMatch HGNC:20859 Unspecified SLC39A13 +OMIM:608735 skos:exactMatch HGNC_symbol:SLC39A13 Unspecified SLC39A13 +OMIM:608739 skos:exactMatch HGNC:23994 Unspecified ERI1 +OMIM:608739 skos:exactMatch UMLS:C1823271 Unspecified ERI1 +OMIM:608739 skos:exactMatch HGNC_symbol:ERI1 Unspecified ERI1 +OMIM:116840 skos:exactMatch HGNC_symbol:CTSD Unspecified CTSD +OMIM:116840 skos:exactMatch UMLS:C1332805 Unspecified CTSD +OMIM:116840 skos:exactMatch HGNC:2529 Unspecified CTSD +OMIM:608741 skos:exactMatch HGNC_symbol:SYT11 Unspecified SYT11 +OMIM:608741 skos:exactMatch UMLS:C1426106 Unspecified SYT11 +OMIM:608741 skos:exactMatch HGNC:19239 Unspecified SYT11 +OMIM:608740 skos:exactMatch HGNC:29872 Unspecified NFAM1 +OMIM:608740 skos:exactMatch HGNC_symbol:NFAM1 Unspecified NFAM1 +OMIM:608740 skos:exactMatch UMLS:C1538055 Unspecified NFAM1 +OMIM:608745 skos:exactMatch UMLS:C1539783 Unspecified SLC25A25 +OMIM:608745 skos:exactMatch HGNC:20663 Unspecified SLC25A25 +OMIM:608745 skos:exactMatch HGNC_symbol:SLC25A25 Unspecified SLC25A25 +OMIM:608744 skos:exactMatch UMLS:C1539782 Unspecified SLC25A24 +OMIM:608744 skos:exactMatch HGNC:20662 Unspecified SLC25A24 +OMIM:608744 skos:exactMatch HGNC_symbol:SLC25A24 Unspecified SLC25A24 +OMIM:608743 skos:exactMatch HGNC:24963 Unspecified JSRP1 +OMIM:608743 skos:exactMatch UMLS:C1825641 Unspecified JSRP1 +OMIM:608743 skos:exactMatch HGNC_symbol:JSRP1 Unspecified JSRP1 +OMIM:141800 skos:exactMatch HGNC:4823 Unspecified HBA1 +OMIM:141800 skos:exactMatch UMLS:C1415477 Unspecified HBA1 +OMIM:141800 skos:exactMatch HGNC_symbol:HBA1 Unspecified HBA1 +OMIM:608742 skos:exactMatch UMLS:C1837479 Unspecified hypertension, essential, susceptibility to, 4 +OMIM:608727 skos:exactMatch HGNC:25477 Unspecified DET1 +OMIM:608727 skos:exactMatch UMLS:C1539273 Unspecified DET1 +OMIM:608727 skos:exactMatch HGNC_symbol:DET1 Unspecified DET1 +OMIM:608726 skos:exactMatch HGNC:25793 Unspecified PHACTR4 +OMIM:608726 skos:exactMatch UMLS:C1538630 Unspecified PHACTR4 +OMIM:608726 skos:exactMatch HGNC_symbol:PHACTR4 Unspecified PHACTR4 +OMIM:608725 skos:exactMatch UMLS:C1538629 Unspecified PHACTR3 +OMIM:608725 skos:exactMatch HGNC_symbol:PHACTR3 Unspecified PHACTR3 +OMIM:608725 skos:exactMatch HGNC:15833 Unspecified PHACTR3 +OMIM:608724 skos:exactMatch UMLS:C1538628 Unspecified PHACTR2 +OMIM:608724 skos:exactMatch HGNC_symbol:PHACTR2 Unspecified PHACTR2 +OMIM:608724 skos:exactMatch HGNC:20956 Unspecified PHACTR2 +OMIM:608729 skos:exactMatch HGNC_symbol:AGTRAP Unspecified AGTRAP +OMIM:608729 skos:exactMatch HGNC:13539 Unspecified AGTRAP +OMIM:608729 skos:exactMatch UMLS:C1422049 Unspecified AGTRAP +OMIM:608728 skos:exactMatch UMLS:C1837481 Unspecified spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia +OMIM:608728 skos:exactMatch ORPHA:156728 Unspecified spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia +OMIM:116830 skos:exactMatch HGNC_symbol:CTSG Unspecified CTSG +OMIM:116830 skos:exactMatch HGNC:2532 Unspecified CTSG +OMIM:116830 skos:exactMatch UMLS:C1413814 Unspecified CTSG +OMIM:116831 skos:exactMatch HGNC:4710 Unspecified GZMH +OMIM:116831 skos:exactMatch UMLS:C1415381 Unspecified GZMH +OMIM:116831 skos:exactMatch HGNC_symbol:GZMH Unspecified GZMH +OMIM:608730 skos:exactMatch HGNC_symbol:SLC39A5 Unspecified SLC39A5 +OMIM:608730 skos:exactMatch HGNC:20502 Unspecified SLC39A5 +OMIM:608730 skos:exactMatch UMLS:C1426974 Unspecified SLC39A5 +OMIM:102200 skos:exactMatch UMLS:C4538355 Unspecified pituitary adenoma 1, multiple types +OMIM:102200 skos:exactMatch UMLS:C3489630 Unspecified pituitary adenoma 1, multiple types +OMIM:102200 skos:exactMatch UMLS:C1863340 Unspecified pituitary adenoma 1, multiple types +OMIM:102200 skos:exactMatch UMLS:C2676191 Unspecified pituitary adenoma 1, multiple types +OMIM:608734 skos:exactMatch UMLS:C1427167 Unspecified SLC39A12 +OMIM:608734 skos:exactMatch HGNC:20860 Unspecified SLC39A12 +OMIM:608734 skos:exactMatch HGNC_symbol:SLC39A12 Unspecified SLC39A12 +OMIM:608733 skos:exactMatch UMLS:C1427168 Unspecified SLC39A10 +OMIM:608733 skos:exactMatch HGNC:20861 Unspecified SLC39A10 +OMIM:608733 skos:exactMatch HGNC_symbol:SLC39A10 Unspecified SLC39A10 +OMIM:608732 skos:exactMatch HGNC_symbol:SLC39A8 Unspecified SLC39A8 +OMIM:608732 skos:exactMatch UMLS:C1427169 Unspecified SLC39A8 +OMIM:608732 skos:exactMatch HGNC:20862 Unspecified SLC39A8 +OMIM:608731 skos:exactMatch HGNC_symbol:SLC39A6 Unspecified SLC39A6 +OMIM:608731 skos:exactMatch HGNC:18607 Unspecified SLC39A6 +OMIM:608731 skos:exactMatch UMLS:C1425643 Unspecified SLC39A6 +OMIM:608716 skos:exactMatch UMLS:C1837501 Unspecified microcephaly 5, primary, autosomal recessive +OMIM:608715 skos:exactMatch HGNC_symbol:SNTG2 Unspecified SNTG2 +OMIM:608715 skos:exactMatch HGNC:13741 Unspecified SNTG2 +OMIM:608715 skos:exactMatch UMLS:C1422176 Unspecified SNTG2 +OMIM:608714 skos:exactMatch HGNC_symbol:SNTG1 Unspecified SNTG1 +OMIM:608714 skos:exactMatch HGNC:13740 Unspecified SNTG1 +OMIM:608714 skos:exactMatch UMLS:C1422175 Unspecified SNTG1 +OMIM:608713 skos:exactMatch UMLS:C1838657 Unspecified CYP2R1 +OMIM:608713 skos:exactMatch UMLS:C1427014 Unspecified CYP2R1 +OMIM:608713 skos:exactMatch HGNC_symbol:CYP2R1 Unspecified CYP2R1 +OMIM:608713 skos:exactMatch HGNC:20580 Unspecified CYP2R1 +OMIM:608719 skos:exactMatch HGNC_symbol:NR2C2AP Unspecified None +OMIM:608719 skos:exactMatch HGNC:30763 Unspecified None +OMIM:608719 skos:exactMatch UMLS:C1837500 Unspecified None +OMIM:608718 skos:exactMatch UMLS:C1425892 Unspecified KRTAP13-1 +OMIM:608718 skos:exactMatch HGNC_symbol:KRTAP13-1 Unspecified KRTAP13-1 +OMIM:608718 skos:exactMatch HGNC:18924 Unspecified KRTAP13-1 +OMIM:608717 skos:exactMatch HGNC:15449 Unspecified LGALS13 +OMIM:608717 skos:exactMatch HGNC_symbol:LGALS13 Unspecified LGALS13 +OMIM:608717 skos:exactMatch UMLS:C1423495 Unspecified LGALS13 +OMIM:116820 skos:exactMatch HGNC_symbol:CTSH Unspecified CTSH +OMIM:116820 skos:exactMatch UMLS:C1332806 Unspecified CTSH +OMIM:116820 skos:exactMatch HGNC:2535 Unspecified CTSH +OMIM:153800 skos:exactMatch UMLS:C3495438 Unspecified macular degeneration, age-related, 2 +OMIM:128800 skos:exactMatch UMLS:C1851899 Unspecified ear without helix +OMIM:608723 skos:exactMatch UMLS:C1538627 Unspecified PHACTR1 +OMIM:608723 skos:exactMatch UMLS:C4749023 Unspecified PHACTR1 +OMIM:608723 skos:exactMatch HGNC_symbol:PHACTR1 Unspecified PHACTR1 +OMIM:608723 skos:exactMatch HGNC:20990 Unspecified PHACTR1 +OMIM:608722 skos:exactMatch HGNC:24205 Unspecified CAPZA3 +OMIM:608722 skos:exactMatch HGNC_symbol:CAPZA3 Unspecified CAPZA3 +OMIM:608722 skos:exactMatch UMLS:C1428357 Unspecified CAPZA3 +OMIM:608721 skos:exactMatch HGNC:24197 Unspecified CAMK2N2 +OMIM:608721 skos:exactMatch UMLS:C1824523 Unspecified CAMK2N2 +OMIM:608721 skos:exactMatch HGNC_symbol:CAMK2N2 Unspecified CAMK2N2 +OMIM:608720 skos:exactMatch UMLS:C1837492 Unspecified neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia +OMIM:608705 skos:exactMatch UMLS:C1425145 Unspecified ITGB1BP3 +OMIM:608705 skos:exactMatch HGNC_symbol:NMRK2 Unspecified ITGB1BP3 +OMIM:608705 skos:exactMatch HGNC:17871 Unspecified ITGB1BP3 +OMIM:608704 skos:exactMatch HGNC:26057 Unspecified NMRK1 +OMIM:608704 skos:exactMatch HGNC_symbol:NMRK1 Unspecified NMRK1 +OMIM:608704 skos:exactMatch UMLS:C1428549 Unspecified NMRK1 +OMIM:608703 skos:exactMatch UMLS:C1837518 Unspecified spinocerebellar ataxia 25 +OMIM:608702 skos:exactMatch HGNC:20989 Unspecified NMNAT3 +OMIM:608702 skos:exactMatch HGNC_symbol:NMNAT3 Unspecified NMNAT3 +OMIM:608702 skos:exactMatch UMLS:C1427227 Unspecified NMNAT3 +OMIM:608709 skos:exactMatch UMLS:C3887501 Unspecified lipodystrophy, partial, acquired, susceptibility to +OMIM:608708 skos:exactMatch UMLS:C1826625 Unspecified BOC +OMIM:608708 skos:exactMatch HGNC:17173 Unspecified BOC +OMIM:608708 skos:exactMatch HGNC_symbol:BOC Unspecified BOC +OMIM:608707 skos:exactMatch HGNC_symbol:CDON Unspecified CDON +OMIM:608707 skos:exactMatch UMLS:C1332740 Unspecified CDON +OMIM:608707 skos:exactMatch HGNC:17104 Unspecified CDON +OMIM:608707 skos:exactMatch UMLS:C3280215 Unspecified CDON +OMIM:608706 skos:exactMatch UMLS:C1427582 Unspecified DNAAF4 +OMIM:608706 skos:exactMatch HGNC_symbol:DNAAF4 Unspecified DNAAF4 +OMIM:608706 skos:exactMatch HGNC:21493 Unspecified DNAAF4 +OMIM:310980 skos:exactMatch UMLS:C3275625 Unspecified omphalocele, X-linked +OMIM:116810 skos:exactMatch HGNC_symbol:CTSB Unspecified CTSB +OMIM:116810 skos:exactMatch UMLS:C1332804 Unspecified CTSB +OMIM:116810 skos:exactMatch UMLS:C4749141 Unspecified CTSB +OMIM:116810 skos:exactMatch HGNC:2527 Unspecified CTSB +OMIM:608712 skos:exactMatch HGNC_symbol:PTPRT Unspecified PTPRT +OMIM:608712 skos:exactMatch UMLS:C2986382 Unspecified PTPRT +OMIM:608712 skos:exactMatch UMLS:C1335289 Unspecified PTPRT +OMIM:608712 skos:exactMatch HGNC:9682 Unspecified PTPRT +OMIM:608711 skos:exactMatch UMLS:C1424726 Unspecified CTDSP2 +OMIM:608711 skos:exactMatch HGNC:17077 Unspecified CTDSP2 +OMIM:608711 skos:exactMatch HGNC_symbol:CTDSP2 Unspecified CTDSP2 +OMIM:608710 skos:exactMatch UMLS:C3495801 Unspecified granulomatosis with polyangiitis +OMIM:606119 skos:exactMatch HGNC:18746 Unspecified SLURP1 +OMIM:606119 skos:exactMatch UMLS:C1539788 Unspecified SLURP1 +OMIM:606119 skos:exactMatch HGNC_symbol:SLURP1 Unspecified SLURP1 +OMIM:606117 skos:exactMatch UMLS:C1427230 Unspecified RPP40 +OMIM:606117 skos:exactMatch HGNC:20992 Unspecified RPP40 +OMIM:606117 skos:exactMatch HGNC_symbol:RPP40 Unspecified RPP40 +OMIM:606118 skos:exactMatch HGNC_symbol:HPS3 Unspecified HPS3 +OMIM:606118 skos:exactMatch HGNC:15597 Unspecified HPS3 +OMIM:606118 skos:exactMatch UMLS:C3888001 Unspecified HPS3 +OMIM:606118 skos:exactMatch UMLS:C1423606 Unspecified HPS3 +OMIM:608779 skos:exactMatch UMLS:C2931010 Unspecified congenital disorder of glycosylation, iia iie +OMIM:116805 skos:exactMatch HGNC:2509 Unspecified CTNNA1 +OMIM:116805 skos:exactMatch UMLS:C1413795 Unspecified CTNNA1 +OMIM:116805 skos:exactMatch HGNC_symbol:CTNNA1 Unspecified CTNNA1 +OMIM:116806 skos:exactMatch HGNC:2514 Unspecified CTNNB1 +OMIM:116806 skos:exactMatch HGNC_symbol:CTNNB1 Unspecified CTNNB1 +OMIM:116806 skos:exactMatch UMLS:C1332803 Unspecified CTNNB1 +OMIM:618100 skos:exactMatch HGNC:26827 Unspecified MPV17L +OMIM:618100 skos:exactMatch HGNC_symbol:MPV17L Unspecified MPV17L +OMIM:618100 skos:exactMatch UMLS:C1826277 Unspecified MPV17L +OMIM:618102 skos:exactMatch HGNC:24779 Unspecified SIMC1 +OMIM:618102 skos:exactMatch HGNC_symbol:SIMC1 Unspecified SIMC1 +OMIM:618102 skos:exactMatch UMLS:C1824186 Unspecified SIMC1 +OMIM:618101 skos:exactMatch HGNC:14250 Unspecified MMP27 +OMIM:618101 skos:exactMatch HGNC_symbol:MMP27 Unspecified MMP27 +OMIM:618101 skos:exactMatch UMLS:C1422511 Unspecified MMP27 +OMIM:618104 skos:exactMatch HGNC_symbol:MMEL1 Unspecified MMEL1 +OMIM:618104 skos:exactMatch HGNC:14668 Unspecified MMEL1 +OMIM:618104 skos:exactMatch UMLS:C1826261 Unspecified MMEL1 +OMIM:618103 skos:exactMatch UMLS:C4748192 Unspecified intellectual developmental disorder, autosomal recessive 64 +OMIM:618106 skos:exactMatch UMLS:C4748195 Unspecified mental retardation, autosomal dominant 58 +OMIM:618105 skos:exactMatch UMLS:C1428655 Unspecified SIGLEC15 +OMIM:618105 skos:exactMatch HGNC:27596 Unspecified SIGLEC15 +OMIM:618105 skos:exactMatch HGNC_symbol:SIGLEC15 Unspecified SIGLEC15 +OMIM:116800 skos:exactMatch UMLS:C3888417 Unspecified cataract 5, multiple types +OMIM:116800 skos:exactMatch ORPHA:91492 Unspecified cataract 5, multiple types +OMIM:116800 skos:exactMatch UMLS:C1861821 Unspecified cataract 5, multiple types +OMIM:608781 skos:exactMatch UMLS:C1837434 Unspecified asperger syndrome, susceptibility to, 3 +OMIM:608780 skos:exactMatch HGNC_symbol:GTF2H5 Unspecified GTF2H5 +OMIM:608780 skos:exactMatch UMLS:C4017171 Unspecified GTF2H5 +OMIM:608780 skos:exactMatch UMLS:C1539623 Unspecified GTF2H5 +OMIM:608780 skos:exactMatch HGNC:21157 Unspecified GTF2H5 +OMIM:273680 skos:exactMatch UMLS:C1848865 Unspecified thanatophoric dysplasia, glasgow variant +OMIM:606122 skos:exactMatch HGNC_symbol:TNFRSF19 Unspecified TNFRSF19 +OMIM:606122 skos:exactMatch HGNC:11915 Unspecified TNFRSF19 +OMIM:606122 skos:exactMatch UMLS:C1420811 Unspecified TNFRSF19 +OMIM:608785 skos:exactMatch HGNC_symbol:HTRA3 Unspecified HTRA3 +OMIM:608785 skos:exactMatch HGNC:30406 Unspecified HTRA3 +OMIM:608785 skos:exactMatch UMLS:C1537393 Unspecified HTRA3 +OMIM:608784 skos:exactMatch HGNC_symbol:ZDHHC8 Unspecified ZDHHC8 +OMIM:608784 skos:exactMatch UMLS:C1425539 Unspecified ZDHHC8 +OMIM:608784 skos:exactMatch HGNC:18474 Unspecified ZDHHC8 +OMIM:606123 skos:exactMatch HGNC_symbol:TRIM17 Unspecified RNF16 +OMIM:606123 skos:exactMatch HGNC:13430 Unspecified RNF16 +OMIM:606123 skos:exactMatch UMLS:C1421988 Unspecified RNF16 +OMIM:608783 skos:exactMatch HGNC:15513 Unspecified SMYD3 +OMIM:608783 skos:exactMatch UMLS:C1423543 Unspecified SMYD3 +OMIM:608783 skos:exactMatch HGNC_symbol:SMYD3 Unspecified SMYD3 +OMIM:606121 skos:exactMatch UMLS:C1853667 Unspecified CRCP +OMIM:606121 skos:exactMatch HGNC:17888 Unspecified CRCP +OMIM:606121 skos:exactMatch HGNC_symbol:CRCP Unspecified CRCP +OMIM:608782 skos:exactMatch ORPHA:765 Unspecified pyruvate dehydrogenase phosphatase deficiency +OMIM:608782 skos:exactMatch ORPHA:79246 Unspecified pyruvate dehydrogenase phosphatase deficiency +OMIM:608782 skos:exactMatch UMLS:C1837429 Unspecified pyruvate dehydrogenase phosphatase deficiency +OMIM:608789 skos:exactMatch HGNC:29847 Unspecified NCKAP5 +OMIM:608789 skos:exactMatch HGNC_symbol:NCKAP5 Unspecified NCKAP5 +OMIM:608789 skos:exactMatch UMLS:C1837421 Unspecified NCKAP5 +OMIM:606126 skos:exactMatch HGNC:16657 Unspecified BCL2L14 +OMIM:606126 skos:exactMatch HGNC_symbol:BCL2L14 Unspecified BCL2L14 +OMIM:606126 skos:exactMatch UMLS:C1424472 Unspecified BCL2L14 +OMIM:608788 skos:exactMatch UMLS:C1428898 Unspecified SOCS7 +OMIM:608788 skos:exactMatch HGNC:29846 Unspecified SOCS7 +OMIM:608788 skos:exactMatch HGNC_symbol:SOCS7 Unspecified SOCS7 +OMIM:606127 skos:exactMatch HGNC:16067 Unspecified MYOCD +OMIM:606127 skos:exactMatch HGNC_symbol:MYOCD Unspecified MYOCD +OMIM:606127 skos:exactMatch UMLS:C5231472 Unspecified MYOCD +OMIM:606127 skos:exactMatch UMLS:C1423951 Unspecified MYOCD +OMIM:606124 skos:exactMatch HGNC_symbol:TRIM49 Unspecified RNF18 +OMIM:606124 skos:exactMatch HGNC:13431 Unspecified RNF18 +OMIM:606124 skos:exactMatch UMLS:C1540058 Unspecified RNF18 +OMIM:608787 skos:exactMatch UMLS:C1837422 Unspecified otosclerosis 5 +OMIM:608786 skos:exactMatch HGNC_symbol:PC Unspecified PC +OMIM:608786 skos:exactMatch HGNC:8636 Unspecified PC +OMIM:608786 skos:exactMatch UMLS:C1418288 Unspecified PC +OMIM:606125 skos:exactMatch HGNC:15579 Unspecified TRIM8 +OMIM:606125 skos:exactMatch UMLS:C1423591 Unspecified TRIM8 +OMIM:606125 skos:exactMatch HGNC_symbol:TRIM8 Unspecified TRIM8 +OMIM:606108 skos:exactMatch UMLS:C1418814 Unspecified PPM1A +OMIM:606108 skos:exactMatch HGNC_symbol:PPM1A Unspecified PPM1A +OMIM:606108 skos:exactMatch HGNC:9275 Unspecified PPM1A +OMIM:606109 skos:exactMatch UMLS:C1538496 Unspecified NUDCD1 +OMIM:606109 skos:exactMatch HGNC_symbol:NUDCD1 Unspecified NUDCD1 +OMIM:606109 skos:exactMatch HGNC:24306 Unspecified NUDCD1 +OMIM:608769 skos:exactMatch HGNC:21350 Unspecified PDHX +OMIM:608769 skos:exactMatch UMLS:C1427500 Unspecified PDHX +OMIM:608769 skos:exactMatch HGNC_symbol:PDHX Unspecified PDHX +OMIM:606106 skos:exactMatch HGNC:17292 Unspecified SLC44A2 +OMIM:606106 skos:exactMatch UMLS:C1822759 Unspecified SLC44A2 +OMIM:606106 skos:exactMatch HGNC_symbol:SLC44A2 Unspecified SLC44A2 +OMIM:608768 skos:exactMatch UMLS:C1837454 Unspecified spinocerebellar ataxia 8 +OMIM:165800 skos:exactMatch UMLS:C3665488 Unspecified short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +OMIM:165800 skos:exactMatch ORPHA:435804 Unspecified short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +OMIM:165800 skos:exactMatch ORPHA:251262 Unspecified short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans +OMIM:606107 skos:exactMatch UMLS:C1822761 Unspecified SLC44A4 +OMIM:606107 skos:exactMatch HGNC_symbol:SLC44A4 Unspecified SLC44A4 +OMIM:606107 skos:exactMatch HGNC:13941 Unspecified SLC44A4 +OMIM:138200 skos:exactMatch UMLS:C1415274 Unspecified GPT +OMIM:138200 skos:exactMatch HGNC_symbol:GPT Unspecified GPT +OMIM:138200 skos:exactMatch HGNC:4552 Unspecified GPT +OMIM:608770 skos:exactMatch HGNC_symbol:DLAT Unspecified DLAT +OMIM:608770 skos:exactMatch UMLS:C1414062 Unspecified DLAT +OMIM:608770 skos:exactMatch HGNC:2896 Unspecified DLAT +OMIM:608774 skos:exactMatch UMLS:C1427255 Unspecified ANKK1 +OMIM:608774 skos:exactMatch HGNC_symbol:ANKK1 Unspecified ANKK1 +OMIM:608774 skos:exactMatch HGNC:21027 Unspecified ANKK1 +OMIM:606111 skos:exactMatch UMLS:C1825953 Unspecified MCHR2 +OMIM:606111 skos:exactMatch HGNC:20867 Unspecified MCHR2 +OMIM:606111 skos:exactMatch HGNC_symbol:MCHR2 Unspecified MCHR2 +OMIM:608773 skos:exactMatch HGNC_symbol:TPPP Unspecified TPPP +OMIM:608773 skos:exactMatch HGNC:24164 Unspecified TPPP +OMIM:608773 skos:exactMatch UMLS:C1837441 Unspecified TPPP +OMIM:606112 skos:exactMatch UMLS:C1428962 Unspecified RPP14 +OMIM:606112 skos:exactMatch HGNC:30327 Unspecified RPP14 +OMIM:606112 skos:exactMatch HGNC_symbol:RPP14 Unspecified RPP14 +OMIM:141850 skos:exactMatch HGNC_symbol:HBA2 Unspecified HBA2 +OMIM:141850 skos:exactMatch HGNC:4824 Unspecified HBA2 +OMIM:141850 skos:exactMatch UMLS:C1415478 Unspecified HBA2 +OMIM:608772 skos:exactMatch HGNC:25715 Unspecified None +OMIM:608772 skos:exactMatch UMLS:C1837442 Unspecified None +OMIM:608772 skos:exactMatch HGNC_symbol:MIIP Unspecified None +OMIM:608771 skos:exactMatch UMLS:C1427815 Unspecified MED13L +OMIM:608771 skos:exactMatch HGNC_symbol:MED13L Unspecified MED13L +OMIM:608771 skos:exactMatch HGNC:22962 Unspecified MED13L +OMIM:606110 skos:exactMatch HGNC:29604 Unspecified LYNX1 +OMIM:606110 skos:exactMatch HGNC_symbol:LYNX1 Unspecified LYNX1 +OMIM:606110 skos:exactMatch UMLS:C1537627 Unspecified LYNX1 +OMIM:608778 skos:exactMatch HGNC_symbol:KLHL10 Unspecified KLHL10 +OMIM:608778 skos:exactMatch HGNC:18829 Unspecified KLHL10 +OMIM:608778 skos:exactMatch UMLS:C1425807 Unspecified KLHL10 +OMIM:606115 skos:exactMatch HGNC:17688 Unspecified RPP30 +OMIM:606115 skos:exactMatch UMLS:C1425037 Unspecified RPP30 +OMIM:606115 skos:exactMatch HGNC_symbol:RPP30 Unspecified RPP30 +OMIM:608777 skos:exactMatch HGNC:16953 Unspecified POSTN +OMIM:608777 skos:exactMatch HGNC_symbol:POSTN Unspecified POSTN +OMIM:608777 skos:exactMatch UMLS:C1424662 Unspecified POSTN +OMIM:606116 skos:exactMatch UMLS:C1428963 Unspecified RPP38 +OMIM:606116 skos:exactMatch HGNC:30329 Unspecified RPP38 +OMIM:606116 skos:exactMatch HGNC_symbol:RPP38 Unspecified RPP38 +OMIM:608776 skos:exactMatch UMLS:C2931006 Unspecified congenital disorder of glycosylation, iia il +OMIM:606113 skos:exactMatch UMLS:C1426553 Unspecified POP7 +OMIM:606113 skos:exactMatch HGNC:19949 Unspecified POP7 +OMIM:606113 skos:exactMatch HGNC_symbol:POP7 Unspecified POP7 +OMIM:606114 skos:exactMatch UMLS:C1428930 Unspecified POP4 +OMIM:606114 skos:exactMatch HGNC:30081 Unspecified POP4 +OMIM:606114 skos:exactMatch HGNC_symbol:POP4 Unspecified POP4 +OMIM:608775 skos:exactMatch UMLS:C1428451 Unspecified HAUS1 +OMIM:608775 skos:exactMatch HGNC:25174 Unspecified HAUS1 +OMIM:608775 skos:exactMatch HGNC_symbol:HAUS1 Unspecified HAUS1 +OMIM:608759 skos:exactMatch HGNC_symbol:CYGB Unspecified CYGB +OMIM:608759 skos:exactMatch HGNC:16505 Unspecified CYGB +OMIM:608759 skos:exactMatch UMLS:C1424337 Unspecified CYGB +OMIM:608758 skos:exactMatch UMLS:C1834460 Unspecified cardiomyopathy, familial hypertrophic, 10 +OMIM:608757 skos:exactMatch UMLS:C1824753 Unspecified CLP1 +OMIM:608757 skos:exactMatch UMLS:C1865580 Unspecified CLP1 +OMIM:608757 skos:exactMatch HGNC:16999 Unspecified CLP1 +OMIM:608757 skos:exactMatch HGNC_symbol:CLP1 Unspecified CLP1 +OMIM:138210 skos:exactMatch UMLS:C4225388 Unspecified GPT2 +OMIM:138210 skos:exactMatch UMLS:C1512213 Unspecified GPT2 +OMIM:138210 skos:exactMatch HGNC:18062 Unspecified GPT2 +OMIM:138210 skos:exactMatch HGNC_symbol:GPT2 Unspecified GPT2 +OMIM:261680 skos:exactMatch UMLS:C0268194 Unspecified phosphoenolpyruvate carboxykinase deficiency, cytosolic +OMIM:153840 skos:exactMatch UMLS:C4551953 Unspecified macular dystrophy, vitelliform, 1 +OMIM:606100 skos:exactMatch HGNC_symbol:ADGRE2 Unspecified ADGRE2 +OMIM:606100 skos:exactMatch UMLS:C1414391 Unspecified ADGRE2 +OMIM:606100 skos:exactMatch HGNC:3337 Unspecified ADGRE2 +OMIM:608763 skos:exactMatch UMLS:C1837462 Unspecified ehlers-danlos syndrome, beasley-cohen iia +OMIM:141860 skos:exactMatch UMLS:C1841345 Unspecified None +OMIM:606101 skos:exactMatch UMLS:C1428181 Unspecified ADGRE3 +OMIM:606101 skos:exactMatch HGNC_symbol:ADGRE3 Unspecified ADGRE3 +OMIM:606101 skos:exactMatch HGNC:23647 Unspecified ADGRE3 +OMIM:608762 skos:exactMatch UMLS:C1837468 Unspecified epilepsy, idiopathic generalized, susceptibility to, 3 +OMIM:608761 skos:exactMatch HGNC_symbol:SLC5A7 Unspecified SLC5A7 +OMIM:608761 skos:exactMatch HGNC:14025 Unspecified SLC5A7 +OMIM:608761 skos:exactMatch UMLS:C1422359 Unspecified SLC5A7 +OMIM:608760 skos:exactMatch HGNC:16935 Unspecified ATG7 +OMIM:608760 skos:exactMatch HGNC_symbol:ATG7 Unspecified ATG7 +OMIM:608760 skos:exactMatch UMLS:C1825498 Unspecified ATG7 +OMIM:608767 skos:exactMatch HGNC:16933 Unspecified FEM1C +OMIM:608767 skos:exactMatch HGNC_symbol:FEM1C Unspecified FEM1C +OMIM:608767 skos:exactMatch UMLS:C1424646 Unspecified FEM1C +OMIM:606105 skos:exactMatch HGNC:18798 Unspecified SLC44A1 +OMIM:606105 skos:exactMatch UMLS:C1822758 Unspecified SLC44A1 +OMIM:606105 skos:exactMatch HGNC_symbol:SLC44A1 Unspecified SLC44A1 +OMIM:606105 skos:exactMatch UMLS:C5394335 Unspecified SLC44A1 +OMIM:608766 skos:exactMatch UMLS:C1416913 Unspecified LRP1B +OMIM:608766 skos:exactMatch HGNC:6693 Unspecified LRP1B +OMIM:608766 skos:exactMatch HGNC_symbol:LRP1B Unspecified LRP1B +OMIM:606102 skos:exactMatch HGNC:8996 Unspecified PIP5K1C +OMIM:606102 skos:exactMatch HGNC_symbol:PIP5K1C Unspecified PIP5K1C +OMIM:606102 skos:exactMatch UMLS:C1418590 Unspecified PIP5K1C +OMIM:608765 skos:exactMatch UMLS:C1837461 Unspecified scoliosis, isolated, susceptibility to, 3 +OMIM:608764 skos:exactMatch UMLS:C1428933 Unspecified NAMPT +OMIM:608764 skos:exactMatch HGNC_symbol:NAMPT Unspecified NAMPT +OMIM:608764 skos:exactMatch HGNC:30092 Unspecified NAMPT +OMIM:606103 skos:exactMatch HGNC:21595 Unspecified SESN1 +OMIM:606103 skos:exactMatch UMLS:C1427633 Unspecified SESN1 +OMIM:606103 skos:exactMatch HGNC_symbol:SESN1 Unspecified SESN1 +OMIM:608749 skos:exactMatch UMLS:C1422073 Unspecified BRD4 +OMIM:608749 skos:exactMatch HGNC_symbol:BRD4 Unspecified BRD4 +OMIM:608749 skos:exactMatch HGNC:13575 Unspecified BRD4 +OMIM:608748 skos:exactMatch UMLS:C1332422 Unspecified BMP10 +OMIM:608748 skos:exactMatch HGNC_symbol:BMP10 Unspecified BMP10 +OMIM:608748 skos:exactMatch HGNC:20869 Unspecified BMP10 +OMIM:608747 skos:exactMatch UMLS:C1837475 Unspecified insulin-like growth factor 1 deficiency +OMIM:608746 skos:exactMatch UMLS:C1539781 Unspecified SLC25A23 +OMIM:608746 skos:exactMatch HGNC:19375 Unspecified SLC25A23 +OMIM:608746 skos:exactMatch HGNC_symbol:SLC25A23 Unspecified SLC25A23 +OMIM:261670 skos:exactMatch UMLS:C0268149 Unspecified glycogen storage disease 10 +OMIM:258040 skos:exactMatch ORPHA:322 Unspecified oeis complex +OMIM:258040 skos:exactMatch ORPHA:93929 Unspecified oeis complex +OMIM:258040 skos:exactMatch UMLS:C1850321 Unspecified oeis complex +OMIM:177800 skos:exactMatch UMLS:C0155300 Unspecified pseudopapilledema +OMIM:608752 skos:exactMatch HGNC_symbol:C1QTNF5 Unspecified C1QTNF5 +OMIM:608752 skos:exactMatch HGNC:14344 Unspecified C1QTNF5 +OMIM:608752 skos:exactMatch UMLS:C1422581 Unspecified C1QTNF5 +OMIM:608751 skos:exactMatch UMLS:C1837471 Unspecified cardiomyopathy, familial hypertrophic, 8 +OMIM:608750 skos:exactMatch UMLS:C1427879 Unspecified ALG3 +OMIM:608750 skos:exactMatch HGNC_symbol:ALG3 Unspecified ALG3 +OMIM:608750 skos:exactMatch UMLS:C1832736 Unspecified ALG3 +OMIM:608750 skos:exactMatch HGNC:23056 Unspecified ALG3 +OMIM:138230 skos:exactMatch HGNC:11010 Unspecified SLC2A5 +OMIM:138230 skos:exactMatch UMLS:C1420176 Unspecified SLC2A5 +OMIM:138230 skos:exactMatch HGNC_symbol:SLC2A5 Unspecified SLC2A5 +OMIM:608756 skos:exactMatch HGNC_symbol:TSEN15 Unspecified TSEN15 +OMIM:608756 skos:exactMatch HGNC:16791 Unspecified TSEN15 +OMIM:608756 skos:exactMatch UMLS:C1424550 Unspecified TSEN15 +OMIM:608755 skos:exactMatch UMLS:C1540079 Unspecified TSEN54 +OMIM:608755 skos:exactMatch HGNC_symbol:TSEN54 Unspecified TSEN54 +OMIM:608755 skos:exactMatch HGNC:27561 Unspecified TSEN54 +OMIM:608754 skos:exactMatch UMLS:C1540078 Unspecified TSEN34 +OMIM:608754 skos:exactMatch HGNC_symbol:TSEN34 Unspecified TSEN34 +OMIM:608754 skos:exactMatch HGNC:15506 Unspecified TSEN34 +OMIM:608753 skos:exactMatch UMLS:C1540077 Unspecified TSEN2 +OMIM:608753 skos:exactMatch HGNC:28422 Unspecified TSEN2 +OMIM:608753 skos:exactMatch HGNC_symbol:TSEN2 Unspecified TSEN2 +OMIM:618140 skos:exactMatch UMLS:C4748334 Unspecified deafness, autosomal dominant 74 +OMIM:618142 skos:exactMatch UMLS:C4748348 Unspecified microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome +OMIM:618141 skos:exactMatch ORPHA:2382 Unspecified developmental and epileptic encephalopathy 67 +OMIM:618141 skos:exactMatch UMLS:C4748341 Unspecified developmental and epileptic encephalopathy 67 +OMIM:618144 skos:exactMatch UMLS:C4748364 Unspecified usher syndrome, iia 4 +OMIM:618143 skos:exactMatch UMLS:C4748357 Unspecified developmental and epileptic encephalopathy 95 +OMIM:618146 skos:exactMatch HGNC_symbol:CFAP251 Unspecified CFAP251 +OMIM:618146 skos:exactMatch UMLS:C4748395 Unspecified CFAP251 +OMIM:618146 skos:exactMatch HGNC:28506 Unspecified CFAP251 +OMIM:618146 skos:exactMatch UMLS:C1823830 Unspecified CFAP251 +OMIM:618145 skos:exactMatch UMLS:C4748374 Unspecified deafness, autosomal recessive 111 +OMIM:618148 skos:exactMatch ORPHA:562538 Unspecified extraoral halitosis due to methanethiol oxidase deficiency +OMIM:618148 skos:exactMatch UMLS:C4748387 Unspecified extraoral halitosis due to methanethiol oxidase deficiency +OMIM:618147 skos:exactMatch UMLS:C4749153 Unspecified intellectual developmental disorder with hypertelorism and distinctive facies +OMIM:618147 skos:exactMatch UMLS:C4748381 Unspecified intellectual developmental disorder with hypertelorism and distinctive facies +OMIM:618149 skos:exactMatch UMLS:C1851878 Unspecified orofacial cleft 8 +OMIM:618149 skos:exactMatch ORPHA:199306 Unspecified orofacial cleft 8 +OMIM:606162 skos:exactMatch HGNC:19366 Unspecified PANK4 +OMIM:606162 skos:exactMatch HGNC_symbol:PANK4 Unspecified PANK4 +OMIM:606162 skos:exactMatch UMLS:C1426194 Unspecified PANK4 +OMIM:151200 skos:exactMatch UMLS:C1835450 Unspecified chromosome 8q22.1 duplication syndrome +OMIM:606160 skos:exactMatch UMLS:C1418263 Unspecified PANK1 +OMIM:606160 skos:exactMatch HGNC_symbol:PANK1 Unspecified PANK1 +OMIM:606160 skos:exactMatch HGNC:8598 Unspecified PANK1 +OMIM:606161 skos:exactMatch HGNC:19365 Unspecified PANK3 +OMIM:606161 skos:exactMatch HGNC_symbol:PANK3 Unspecified PANK3 +OMIM:606161 skos:exactMatch UMLS:C1426193 Unspecified PANK3 +OMIM:606167 skos:exactMatch HGNC_symbol:GPR132 Unspecified GPR132 +OMIM:606167 skos:exactMatch UMLS:C1424979 Unspecified GPR132 +OMIM:606167 skos:exactMatch HGNC:17482 Unspecified GPR132 +OMIM:606164 skos:exactMatch ORPHA:124 Unspecified diamond-blackfan anemia 15 with mandibulofacial dysostosis +OMIM:606164 skos:exactMatch UMLS:C4225411 Unspecified diamond-blackfan anemia 15 with mandibulofacial dysostosis +OMIM:309930 skos:exactMatch UMLS:C1442927 Unspecified muscular dystrophy, cardiac iia +OMIM:606165 skos:exactMatch HGNC_symbol:BOLL Unspecified BOLL +OMIM:606165 skos:exactMatch UMLS:C1422533 Unspecified BOLL +OMIM:606165 skos:exactMatch HGNC:14273 Unspecified BOLL +OMIM:606168 skos:exactMatch UMLS:C1413960 Unspecified DDX20 +OMIM:606168 skos:exactMatch HGNC:2743 Unspecified DDX20 +OMIM:606168 skos:exactMatch HGNC_symbol:DDX20 Unspecified DDX20 +OMIM:138248 skos:exactMatch HGNC:4571 Unspecified GRIA1 +OMIM:138248 skos:exactMatch HGNC_symbol:GRIA1 Unspecified GRIA1 +OMIM:138248 skos:exactMatch UMLS:C1415287 Unspecified GRIA1 +OMIM:138247 skos:exactMatch UMLS:C5394502 Unspecified GRIA2 +OMIM:138247 skos:exactMatch HGNC:4572 Unspecified GRIA2 +OMIM:138247 skos:exactMatch HGNC_symbol:GRIA2 Unspecified GRIA2 +OMIM:138247 skos:exactMatch UMLS:C1415288 Unspecified GRIA2 +OMIM:138249 skos:exactMatch HGNC:4584 Unspecified GRIN1 +OMIM:138249 skos:exactMatch UMLS:C4693965 Unspecified GRIN1 +OMIM:138249 skos:exactMatch UMLS:C4693964 Unspecified GRIN1 +OMIM:138249 skos:exactMatch UMLS:C4693963 Unspecified GRIN1 +OMIM:138249 skos:exactMatch UMLS:C4693962 Unspecified GRIN1 +OMIM:138249 skos:exactMatch UMLS:C4693961 Unspecified GRIN1 +OMIM:138249 skos:exactMatch UMLS:C4693960 Unspecified GRIN1 +OMIM:138249 skos:exactMatch UMLS:C4693959 Unspecified GRIN1 +OMIM:138249 skos:exactMatch HGNC_symbol:GRIN1 Unspecified GRIN1 +OMIM:138249 skos:exactMatch UMLS:C1415298 Unspecified GRIN1 +OMIM:138244 skos:exactMatch UMLS:C1970198 Unspecified GRIK2 +OMIM:138244 skos:exactMatch HGNC:4580 Unspecified GRIK2 +OMIM:138244 skos:exactMatch UMLS:C1415294 Unspecified GRIK2 +OMIM:138244 skos:exactMatch HGNC_symbol:GRIK2 Unspecified GRIK2 +OMIM:236690 skos:exactMatch UMLS:C5231392 Unspecified hydrocephalus, normal-pressure, 1 +OMIM:138243 skos:exactMatch HGNC:4581 Unspecified GRIK3 +OMIM:138243 skos:exactMatch HGNC_symbol:GRIK3 Unspecified GRIK3 +OMIM:138243 skos:exactMatch UMLS:C1415295 Unspecified GRIK3 +OMIM:138246 skos:exactMatch HGNC:4574 Unspecified GRIA4 +OMIM:138246 skos:exactMatch HGNC_symbol:GRIA4 Unspecified GRIA4 +OMIM:138246 skos:exactMatch UMLS:C1415289 Unspecified GRIA4 +OMIM:618131 skos:exactMatch UMLS:C4748304 Unspecified immunodeficiency 58 +OMIM:138245 skos:exactMatch HGNC:4579 Unspecified GRIK1 +OMIM:138245 skos:exactMatch HGNC_symbol:GRIK1 Unspecified GRIK1 +OMIM:138245 skos:exactMatch UMLS:C1415293 Unspecified GRIK1 +OMIM:618130 skos:exactMatch UMLS:C2239780 Unspecified NECAB2 +OMIM:618130 skos:exactMatch HGNC:23746 Unspecified NECAB2 +OMIM:618130 skos:exactMatch HGNC_symbol:NECAB2 Unspecified NECAB2 +OMIM:234030 skos:exactMatch UMLS:C1856241 Unspecified hair defect with photosensitivity and mental retardation +OMIM:618133 skos:exactMatch HGNC_symbol:NXPE4 Unspecified NXPE4 +OMIM:618133 skos:exactMatch HGNC:23117 Unspecified NXPE4 +OMIM:618133 skos:exactMatch UMLS:C1825116 Unspecified NXPE4 +OMIM:261650 skos:exactMatch UMLS:C1849821 Unspecified phosphoenolpyruvate carboxykinase deficiency, mitochondrial +OMIM:618132 skos:exactMatch HGNC:32926 Unspecified SIGLEC14 +OMIM:618132 skos:exactMatch UMLS:C2239926 Unspecified SIGLEC14 +OMIM:618132 skos:exactMatch HGNC_symbol:SIGLEC14 Unspecified SIGLEC14 +OMIM:618135 skos:exactMatch UMLS:C4748320 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 +OMIM:618134 skos:exactMatch HGNC:30894 Unspecified UTS2B +OMIM:618134 skos:exactMatch UMLS:C1540170 Unspecified UTS2B +OMIM:618134 skos:exactMatch HGNC_symbol:UTS2B Unspecified UTS2B +OMIM:618137 skos:exactMatch HGNC_symbol:MIS18A Unspecified None +OMIM:618137 skos:exactMatch UMLS:C4748326 Unspecified None +OMIM:618137 skos:exactMatch HGNC:1286 Unspecified None +OMIM:618136 skos:exactMatch HGNC_symbol:MAD2L1BP Unspecified MAD2L1BP +OMIM:618136 skos:exactMatch HGNC:21059 Unspecified MAD2L1BP +OMIM:618136 skos:exactMatch UMLS:C1427281 Unspecified MAD2L1BP +OMIM:618139 skos:exactMatch HGNC_symbol:MIS18BP1 Unspecified MIS18BP1 +OMIM:618139 skos:exactMatch UMLS:C1426763 Unspecified MIS18BP1 +OMIM:618139 skos:exactMatch HGNC:20190 Unspecified MIS18BP1 +OMIM:618138 skos:exactMatch UMLS:C4748327 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 23 +OMIM:618129 skos:exactMatch UMLS:C4748295 Unspecified muscular dystrophy, limb-girdle, autosomal dominant 4 +OMIM:606151 skos:exactMatch UMLS:C1412747 Unspecified BBS2 +OMIM:606151 skos:exactMatch HGNC:967 Unspecified BBS2 +OMIM:606151 skos:exactMatch HGNC_symbol:BBS2 Unspecified BBS2 +OMIM:606152 skos:exactMatch HGNC_symbol:SLC19A3 Unspecified SLC19A3 +OMIM:606152 skos:exactMatch HGNC:16266 Unspecified SLC19A3 +OMIM:606152 skos:exactMatch UMLS:C1424138 Unspecified SLC19A3 +OMIM:151210 skos:exactMatch UMLS:C1835437 Unspecified platyspondylic lethal skeletal dysplasia, torrance iia +OMIM:151210 skos:exactMatch ORPHA:85166 Unspecified platyspondylic lethal skeletal dysplasia, torrance iia +OMIM:177820 skos:exactMatch UMLS:C1280798 Unspecified pseudo-von willebrand disease +OMIM:606150 skos:exactMatch HGNC_symbol:FADS3 Unspecified FADS3 +OMIM:606150 skos:exactMatch HGNC:3576 Unspecified FADS3 +OMIM:606150 skos:exactMatch UMLS:C1414523 Unspecified FADS3 +OMIM:138251 skos:exactMatch HGNC:4589 Unspecified GRINA +OMIM:138251 skos:exactMatch HGNC_symbol:GRINA Unspecified GRINA +OMIM:138251 skos:exactMatch UMLS:C1415303 Unspecified GRINA +OMIM:153870 skos:exactMatch UMLS:C1828210 Unspecified retinitis pigmentosa 91 +OMIM:138250 skos:exactMatch UMLS:C1538262 Unspecified ALDH18A1 +OMIM:138250 skos:exactMatch HGNC_symbol:ALDH18A1 Unspecified ALDH18A1 +OMIM:138250 skos:exactMatch HGNC:9722 Unspecified ALDH18A1 +OMIM:606156 skos:exactMatch UMLS:C1853616 Unspecified sener syndrome +OMIM:138253 skos:exactMatch HGNC:4585 Unspecified GRIN2A +OMIM:138253 skos:exactMatch UMLS:C1415299 Unspecified GRIN2A +OMIM:138253 skos:exactMatch HGNC_symbol:GRIN2A Unspecified GRIN2A +OMIM:606153 skos:exactMatch UMLS:C1412659 Unspecified ATP5F1E +OMIM:606153 skos:exactMatch HGNC_symbol:ATP5F1E Unspecified ATP5F1E +OMIM:606153 skos:exactMatch UMLS:C3279708 Unspecified ATP5F1E +OMIM:606153 skos:exactMatch HGNC:838 Unspecified ATP5F1E +OMIM:138252 skos:exactMatch UMLS:C4015316 Unspecified GRIN2B +OMIM:138252 skos:exactMatch UMLS:C3151411 Unspecified GRIN2B +OMIM:138252 skos:exactMatch HGNC:4586 Unspecified GRIN2B +OMIM:138252 skos:exactMatch UMLS:C1415300 Unspecified GRIN2B +OMIM:138252 skos:exactMatch HGNC_symbol:GRIN2B Unspecified GRIN2B +OMIM:138252 skos:exactMatch UMLS:C4540533 Unspecified GRIN2B +OMIM:606154 skos:exactMatch UMLS:C1423594 Unspecified MUC16 +OMIM:606154 skos:exactMatch HGNC_symbol:MUC16 Unspecified MUC16 +OMIM:606154 skos:exactMatch HGNC:15582 Unspecified MUC16 +OMIM:606159 skos:exactMatch UMLS:C1853578 Unspecified neurodegeneration with brain iron accumulation 3 +OMIM:606157 skos:exactMatch HGNC:15894 Unspecified PANK2 +OMIM:606157 skos:exactMatch UMLS:C1423814 Unspecified PANK2 +OMIM:606157 skos:exactMatch HGNC_symbol:PANK2 Unspecified PANK2 +OMIM:606158 skos:exactMatch HGNC:15832 Unspecified BSCL2 +OMIM:606158 skos:exactMatch UMLS:C1423761 Unspecified BSCL2 +OMIM:606158 skos:exactMatch UMLS:C4016959 Unspecified BSCL2 +OMIM:606158 skos:exactMatch UMLS:C4014700 Unspecified BSCL2 +OMIM:606158 skos:exactMatch UMLS:C5436838 Unspecified BSCL2 +OMIM:606158 skos:exactMatch UMLS:C2931276 Unspecified BSCL2 +OMIM:606158 skos:exactMatch HGNC_symbol:BSCL2 Unspecified BSCL2 +OMIM:606158 skos:exactMatch UMLS:C1720863 Unspecified BSCL2 +OMIM:606139 skos:exactMatch HGNC:16857 Unspecified KLF16 +OMIM:606139 skos:exactMatch UMLS:C1424598 Unspecified KLF16 +OMIM:606139 skos:exactMatch HGNC_symbol:KLF16 Unspecified KLF16 +OMIM:138254 skos:exactMatch HGNC:4587 Unspecified GRIN2C +OMIM:138254 skos:exactMatch UMLS:C1415301 Unspecified GRIN2C +OMIM:138254 skos:exactMatch HGNC_symbol:GRIN2C Unspecified GRIN2C +OMIM:618120 skos:exactMatch UMLS:C4748269 Unspecified mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 5 +OMIM:246000 skos:exactMatch UMLS:C1855523 Unspecified leg, absence deformity of, with congenital cataract +OMIM:309900 skos:exactMatch UMLS:C0026705 Unspecified mucopolysaccharidosis, iia 2 +OMIM:189800 skos:exactMatch UMLS:C0032914 Unspecified preeclampsia/eclampsia 1 +OMIM:189800 skos:exactMatch UMLS:C0162739 Unspecified preeclampsia/eclampsia 1 +OMIM:189800 skos:exactMatch UMLS:C0852036 Unspecified preeclampsia/eclampsia 1 +OMIM:618122 skos:exactMatch UMLS:C1539776 Unspecified MTREX +OMIM:618122 skos:exactMatch HGNC_symbol:MTREX Unspecified MTREX +OMIM:618122 skos:exactMatch HGNC:18734 Unspecified MTREX +OMIM:618121 skos:exactMatch UMLS:C1412666 Unspecified ATP5PD +OMIM:618121 skos:exactMatch HGNC_symbol:ATP5PD Unspecified ATP5PD +OMIM:618121 skos:exactMatch HGNC:845 Unspecified ATP5PD +OMIM:618124 skos:exactMatch UMLS:C4748283 Unspecified peripheral neuropathy, autosomal recessive, with or without impaired intellectual development +OMIM:261640 skos:exactMatch UMLS:C0878676 Unspecified hyperphenylalaninemia, bh4-deficient, a +OMIM:261640 skos:exactMatch UMLS:C2678415 Unspecified hyperphenylalaninemia, bh4-deficient, a +OMIM:618123 skos:exactMatch UMLS:C4748277 Unspecified polydactyly, postaxial, iia a8 +OMIM:618126 skos:exactMatch UMLS:C4748292 Unspecified liddle syndrome 3 +OMIM:618125 skos:exactMatch HGNC:26520 Unspecified CCDC155 +OMIM:618125 skos:exactMatch HGNC_symbol:KASH5 Unspecified CCDC155 +OMIM:618125 skos:exactMatch UMLS:C2681331 Unspecified CCDC155 +OMIM:618128 skos:exactMatch UMLS:C1425237 Unspecified GDAP2 +OMIM:618128 skos:exactMatch HGNC_symbol:GDAP2 Unspecified GDAP2 +OMIM:618128 skos:exactMatch HGNC:18010 Unspecified GDAP2 +OMIM:618127 skos:exactMatch HGNC_symbol:COX6B2 Unspecified COX6B2 +OMIM:618127 skos:exactMatch UMLS:C1539129 Unspecified COX6B2 +OMIM:618127 skos:exactMatch HGNC:24380 Unspecified COX6B2 +OMIM:618119 skos:exactMatch HGNC_symbol:EML5 Unspecified EML5 +OMIM:618119 skos:exactMatch UMLS:C1425373 Unspecified EML5 +OMIM:618119 skos:exactMatch HGNC:18197 Unspecified EML5 +OMIM:618118 skos:exactMatch HGNC_symbol:EML3 Unspecified EML3 +OMIM:618118 skos:exactMatch HGNC:26666 Unspecified EML3 +OMIM:618118 skos:exactMatch UMLS:C1825051 Unspecified EML3 +OMIM:606140 skos:exactMatch UMLS:C1422413 Unspecified XPO7 +OMIM:606140 skos:exactMatch HGNC_symbol:XPO7 Unspecified XPO7 +OMIM:606140 skos:exactMatch HGNC:14108 Unspecified XPO7 +OMIM:606141 skos:exactMatch HGNC:14428 Unspecified RANBP17 +OMIM:606141 skos:exactMatch HGNC_symbol:RANBP17 Unspecified RANBP17 +OMIM:606141 skos:exactMatch UMLS:C1422638 Unspecified RANBP17 +OMIM:606144 skos:exactMatch HGNC:14263 Unspecified RAB23 +OMIM:606144 skos:exactMatch UMLS:C1422524 Unspecified RAB23 +OMIM:606144 skos:exactMatch HGNC_symbol:RAB23 Unspecified RAB23 +OMIM:153880 skos:exactMatch UMLS:C0024440 Unspecified macular dystrophy, dominant cystoid +OMIM:606145 skos:exactMatch HGNC:13444 Unspecified SLC2A10 +OMIM:606145 skos:exactMatch UMLS:C1421996 Unspecified SLC2A10 +OMIM:606145 skos:exactMatch HGNC_symbol:SLC2A10 Unspecified SLC2A10 +OMIM:177850 skos:exactMatch UMLS:C1867450 Unspecified pseudoxanthoma elasticum, forme fruste +OMIM:177850 skos:exactMatch UMLS:C1867451 Unspecified pseudoxanthoma elasticum, forme fruste +OMIM:606142 skos:exactMatch HGNC:13446 Unspecified SLC2A9 +OMIM:606142 skos:exactMatch UMLS:C2677550 Unspecified SLC2A9 +OMIM:606142 skos:exactMatch UMLS:C4225532 Unspecified SLC2A9 +OMIM:606142 skos:exactMatch UMLS:C4225531 Unspecified SLC2A9 +OMIM:606142 skos:exactMatch HGNC_symbol:SLC2A9 Unspecified SLC2A9 +OMIM:606142 skos:exactMatch UMLS:C1421998 Unspecified SLC2A9 +OMIM:606143 skos:exactMatch HGNC_symbol:FZD3 Unspecified FZD3 +OMIM:606143 skos:exactMatch UMLS:C1333585 Unspecified FZD3 +OMIM:606143 skos:exactMatch HGNC:4041 Unspecified FZD3 +OMIM:606148 skos:exactMatch UMLS:C1414521 Unspecified FADS1 +OMIM:606148 skos:exactMatch HGNC_symbol:FADS1 Unspecified FADS1 +OMIM:606148 skos:exactMatch HGNC:3574 Unspecified FADS1 +OMIM:606149 skos:exactMatch HGNC_symbol:FADS2 Unspecified FADS2 +OMIM:606149 skos:exactMatch HGNC:3575 Unspecified FADS2 +OMIM:606149 skos:exactMatch UMLS:C2746045 Unspecified FADS2 +OMIM:606146 skos:exactMatch UMLS:C1414889 Unspecified FZD8 +OMIM:606146 skos:exactMatch HGNC_symbol:FZD8 Unspecified FZD8 +OMIM:606146 skos:exactMatch HGNC:4046 Unspecified FZD8 +OMIM:606147 skos:exactMatch UMLS:C1414887 Unspecified FZD10 +OMIM:606147 skos:exactMatch HGNC_symbol:FZD10 Unspecified FZD10 +OMIM:606147 skos:exactMatch HGNC:4039 Unspecified FZD10 +OMIM:606129 skos:exactMatch UMLS:C1853666 Unspecified diamond-blackfan anemia 2 +OMIM:310900 skos:exactMatch UMLS:C1839578 Unspecified occipital hair, white lock of +OMIM:190800 skos:exactMatch UMLS:C1860785 Unspecified tristichiasis +OMIM:163200 skos:exactMatch UMLS:C4552097 Unspecified schimmelpenning-feuerstein-mims syndrome +OMIM:163200 skos:exactMatch ORPHA:2612 Unspecified schimmelpenning-feuerstein-mims syndrome +OMIM:234050 skos:exactMatch UMLS:C3495483 Unspecified trichothiodystrophy 4, nonphotosensitive +OMIM:234050 skos:exactMatch UMLS:C4083251 Unspecified trichothiodystrophy 4, nonphotosensitive +OMIM:234050 skos:exactMatch UMLS:C1313961 Unspecified trichothiodystrophy 4, nonphotosensitive +OMIM:618111 skos:exactMatch HGNC:15940 Unspecified ZFP64 +OMIM:618111 skos:exactMatch HGNC_symbol:ZFP64 Unspecified ZFP64 +OMIM:618111 skos:exactMatch UMLS:C1423846 Unspecified ZFP64 +OMIM:618110 skos:exactMatch UMLS:C4748224 Unspecified spermatogenic failure 30 +OMIM:261630 skos:exactMatch UMLS:C0268465 Unspecified hyperphenylalaninemia, bh4-deficient, c +OMIM:618113 skos:exactMatch UMLS:C4722446 Unspecified encephalitis/encephalopathy, mild, with reversible myelin vacuolization +OMIM:618112 skos:exactMatch UMLS:C4748234 Unspecified spermatogenic failure 31 +OMIM:618115 skos:exactMatch UMLS:C4748253 Unspecified spermatogenic failure 32 +OMIM:618114 skos:exactMatch ORPHA:526 Unspecified liddle syndrome 2 +OMIM:618114 skos:exactMatch UMLS:C4748251 Unspecified liddle syndrome 2 +OMIM:618117 skos:exactMatch UMLS:C4748263 Unspecified ovarian dysgenesis 7 +OMIM:618116 skos:exactMatch UMLS:C4748257 Unspecified bone marrow failure syndrome 4 +OMIM:618108 skos:exactMatch UMLS:C4748212 Unspecified immunodeficiency 57 with autoinflammation +OMIM:618107 skos:exactMatch UMLS:C4748197 Unspecified osteopetrosis, autosomal dominant 3 +OMIM:618109 skos:exactMatch UMLS:C4748219 Unspecified intellectual developmental disorder, autosomal recessive 65 +OMIM:618109 skos:exactMatch ORPHA:88616 Unspecified intellectual developmental disorder, autosomal recessive 65 +OMIM:608792 skos:exactMatch HGNC:18183 Unspecified GIPC3 +OMIM:608792 skos:exactMatch UMLS:C1866094 Unspecified GIPC3 +OMIM:608792 skos:exactMatch UMLS:C1825353 Unspecified GIPC3 +OMIM:608792 skos:exactMatch HGNC_symbol:GIPC3 Unspecified GIPC3 +OMIM:608791 skos:exactMatch HGNC:25179 Unspecified NXNL1 +OMIM:608791 skos:exactMatch HGNC_symbol:NXNL1 Unspecified NXNL1 +OMIM:608791 skos:exactMatch UMLS:C1540142 Unspecified NXNL1 +OMIM:606130 skos:exactMatch HGNC:14646 Unspecified RNF26 +OMIM:606130 skos:exactMatch HGNC_symbol:RNF26 Unspecified RNF26 +OMIM:606130 skos:exactMatch UMLS:C1422811 Unspecified RNF26 +OMIM:608790 skos:exactMatch HGNC:30781 Unspecified TADA2B +OMIM:608790 skos:exactMatch UMLS:C1837420 Unspecified TADA2B +OMIM:608790 skos:exactMatch HGNC_symbol:TADA2B Unspecified TADA2B +OMIM:608796 skos:exactMatch UMLS:C1837418 Unspecified moyamoya disease 3 +OMIM:606133 skos:exactMatch HGNC:16943 Unspecified CDC42EP3 +OMIM:606133 skos:exactMatch UMLS:C1424654 Unspecified CDC42EP3 +OMIM:606133 skos:exactMatch HGNC_symbol:CDC42EP3 Unspecified CDC42EP3 +OMIM:608795 skos:exactMatch HGNC_symbol:PLCD3 Unspecified PLCD3 +OMIM:608795 skos:exactMatch UMLS:C1418636 Unspecified PLCD3 +OMIM:608795 skos:exactMatch HGNC:9061 Unspecified PLCD3 +OMIM:606134 skos:exactMatch HGNC:14060 Unspecified REV1 +OMIM:606134 skos:exactMatch HGNC_symbol:REV1 Unspecified REV1 +OMIM:606134 skos:exactMatch UMLS:C1826797 Unspecified REV1 +OMIM:138275 skos:exactMatch UMLS:C1414926 Unspecified GAD2 +OMIM:138275 skos:exactMatch HGNC_symbol:GAD2 Unspecified GAD2 +OMIM:138275 skos:exactMatch HGNC:4093 Unspecified GAD2 +OMIM:606131 skos:exactMatch UMLS:C1540067 Unspecified TRIM63 +OMIM:606131 skos:exactMatch HGNC:16007 Unspecified TRIM63 +OMIM:606131 skos:exactMatch HGNC_symbol:TRIM63 Unspecified TRIM63 +OMIM:153890 skos:exactMatch UMLS:C1835173 Unspecified macular dystrophy, fenestrated sheen iia +OMIM:608794 skos:exactMatch HGNC_symbol:PITPNM1 Unspecified PITPNM1 +OMIM:608794 skos:exactMatch UMLS:C1418594 Unspecified PITPNM1 +OMIM:608794 skos:exactMatch HGNC:9003 Unspecified PITPNM1 +OMIM:608793 skos:exactMatch HGNC_symbol:SPECC1 Unspecified SPECC1 +OMIM:608793 skos:exactMatch HGNC:30615 Unspecified SPECC1 +OMIM:608793 skos:exactMatch UMLS:C1837419 Unspecified SPECC1 +OMIM:608793 skos:exactMatch UMLS:C1823096 Unspecified SPECC1 +OMIM:606132 skos:exactMatch UMLS:C1424136 Unspecified CDC42EP2 +OMIM:606132 skos:exactMatch HGNC_symbol:CDC42EP2 Unspecified CDC42EP2 +OMIM:606132 skos:exactMatch HGNC:16263 Unspecified CDC42EP2 +OMIM:606137 skos:exactMatch HGNC:16962 Unspecified CGREF1 +OMIM:606137 skos:exactMatch UMLS:C1424665 Unspecified CGREF1 +OMIM:606137 skos:exactMatch HGNC_symbol:CGREF1 Unspecified CGREF1 +OMIM:608799 skos:exactMatch UMLS:C1837396 Unspecified congenital disorder of glycosylation, iia ie +OMIM:606138 skos:exactMatch HGNC:15528 Unspecified CGRRF1 +OMIM:606138 skos:exactMatch HGNC_symbol:CGRRF1 Unspecified CGRRF1 +OMIM:606138 skos:exactMatch UMLS:C1423556 Unspecified CGRRF1 +OMIM:608798 skos:exactMatch HGNC_symbol:GSDME Unspecified GSDME +OMIM:608798 skos:exactMatch UMLS:C1832932 Unspecified GSDME +OMIM:608798 skos:exactMatch UMLS:C1414006 Unspecified GSDME +OMIM:608798 skos:exactMatch HGNC:2810 Unspecified GSDME +OMIM:606135 skos:exactMatch HGNC:6362 Unspecified KLK14 +OMIM:606135 skos:exactMatch HGNC_symbol:KLK14 Unspecified KLK14 +OMIM:606135 skos:exactMatch UMLS:C1416674 Unspecified KLK14 +OMIM:606136 skos:exactMatch HGNC:9874 Unspecified RASAL2 +OMIM:606136 skos:exactMatch UMLS:C1419280 Unspecified RASAL2 +OMIM:606136 skos:exactMatch HGNC_symbol:RASAL2 Unspecified RASAL2 +OMIM:608797 skos:exactMatch HGNC:28613 Unspecified MEI1 +OMIM:608797 skos:exactMatch HGNC_symbol:MEI1 Unspecified MEI1 +OMIM:608797 skos:exactMatch UMLS:C1837417 Unspecified MEI1 +OMIM:618180 skos:exactMatch UMLS:C4748560 Unspecified ectodermal dysplasia 14, hair/tooth iia with or without hypohidrosis +OMIM:618182 skos:exactMatch UMLS:C4748569 Unspecified orthostatic hypotension 2 +OMIM:618181 skos:exactMatch HGNC_symbol:ZBTB11 Unspecified ZBTB11 +OMIM:618181 skos:exactMatch HGNC:16740 Unspecified ZBTB11 +OMIM:618181 skos:exactMatch UMLS:C1538147 Unspecified ZBTB11 +OMIM:618184 skos:exactMatch UMLS:C4722277 Unspecified neuropathy, congenital hypomyelinating, 2 +OMIM:138277 skos:exactMatch UMLS:C1841911 Unspecified glutamic acid decarboxylase, brain, membrane form +OMIM:618183 skos:exactMatch UMLS:C4748579 Unspecified diarrhea 10, protein-losing enteropathy iia +OMIM:618186 skos:exactMatch UMLS:C4748608 Unspecified neuropathy, congenital hypomyelinating, 3 +OMIM:618186 skos:exactMatch ORPHA:2680 Unspecified neuropathy, congenital hypomyelinating, 3 +OMIM:618185 skos:exactMatch UMLS:C4748602 Unspecified periventricular nodular heterotopia 8 +OMIM:618188 skos:exactMatch UMLS:C1300287 Unspecified hyperparathyroidism, transient neonatal +OMIM:618187 skos:exactMatch UMLS:C4748626 Unspecified ovarian dysgenesis 8 +OMIM:618189 skos:exactMatch UMLS:C4748647 Unspecified cardiomyopathy, dilated, 2c +OMIM:138280 skos:exactMatch UMLS:C1415112 Unspecified GLS +OMIM:138280 skos:exactMatch HGNC_symbol:GLS Unspecified GLS +OMIM:138280 skos:exactMatch UMLS:C5193080 Unspecified GLS +OMIM:138280 skos:exactMatch UMLS:C5193030 Unspecified GLS +OMIM:138280 skos:exactMatch UMLS:C5193037 Unspecified GLS +OMIM:138280 skos:exactMatch HGNC:4331 Unspecified GLS +OMIM:273600 skos:exactMatch UMLS:C1848866 Unspecified thalidomide susceptibility +OMIM:618171 skos:exactMatch UMLS:C2986382 Unspecified KIF16B +OMIM:618171 skos:exactMatch HGNC:15869 Unspecified KIF16B +OMIM:618171 skos:exactMatch HGNC_symbol:KIF16B Unspecified KIF16B +OMIM:618171 skos:exactMatch UMLS:C1423791 Unspecified KIF16B +OMIM:618170 skos:exactMatch UMLS:C4748527 Unspecified neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures +OMIM:618173 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 83 +OMIM:618173 skos:exactMatch UMLS:C4748536 Unspecified retinitis pigmentosa 83 +OMIM:618172 skos:exactMatch HGNC:40992 Unspecified LUARIS +OMIM:618172 skos:exactMatch HGNC_symbol:LUARIS Unspecified LUARIS +OMIM:618172 skos:exactMatch UMLS:C4320370 Unspecified LUARIS +OMIM:209050 skos:exactMatch UMLS:C1859595 Unspecified athrombia, essential +OMIM:618175 skos:exactMatch UMLS:C5193019 Unspecified warburg-cinotti syndrome +OMIM:618174 skos:exactMatch UMLS:C4748540 Unspecified cortical dysplasia, complex, with other brain malformations 9 +OMIM:618177 skos:exactMatch ORPHA:656 Unspecified nephrotic syndrome, iia 18 +OMIM:618177 skos:exactMatch UMLS:C4748549 Unspecified nephrotic syndrome, iia 18 +OMIM:618176 skos:exactMatch ORPHA:656 Unspecified nephrotic syndrome, iia 17 +OMIM:618176 skos:exactMatch UMLS:C4748545 Unspecified nephrotic syndrome, iia 17 +OMIM:618179 skos:exactMatch UMLS:C4748555 Unspecified microcephaly 24, primary, autosomal recessive +OMIM:618178 skos:exactMatch ORPHA:656 Unspecified nephrotic syndrome, iia 19 +OMIM:618178 skos:exactMatch UMLS:C4748552 Unspecified nephrotic syndrome, iia 19 +OMIM:606191 skos:exactMatch HGNC_symbol:FNBP1 Unspecified FNBP1 +OMIM:606191 skos:exactMatch UMLS:C1853553 Unspecified FNBP1 +OMIM:606191 skos:exactMatch UMLS:C1424722 Unspecified FNBP1 +OMIM:606191 skos:exactMatch HGNC:17069 Unspecified FNBP1 +OMIM:606192 skos:exactMatch HGNC:1143 Unspecified BTNL3 +OMIM:606192 skos:exactMatch HGNC_symbol:BTNL3 Unspecified BTNL3 +OMIM:606192 skos:exactMatch UMLS:C1412850 Unspecified BTNL3 +OMIM:606190 skos:exactMatch UMLS:C1853554 Unspecified meningioma, radiation-induced +OMIM:175200 skos:exactMatch UMLS:C0031269 Unspecified peutz-jeghers syndrome +OMIM:606195 skos:exactMatch HGNC:14361 Unspecified IRX5 +OMIM:606195 skos:exactMatch UMLS:C1422593 Unspecified IRX5 +OMIM:606195 skos:exactMatch HGNC_symbol:IRX5 Unspecified IRX5 +OMIM:606196 skos:exactMatch HGNC_symbol:IRX6 Unspecified IRX6 +OMIM:606196 skos:exactMatch UMLS:C1422831 Unspecified IRX6 +OMIM:606196 skos:exactMatch HGNC:14675 Unspecified IRX6 +OMIM:606193 skos:exactMatch HGNC:10916 Unspecified SLC13A1 +OMIM:606193 skos:exactMatch HGNC_symbol:SLC13A1 Unspecified SLC13A1 +OMIM:606193 skos:exactMatch UMLS:C1420096 Unspecified SLC13A1 +OMIM:606194 skos:exactMatch UMLS:C1416738 Unspecified KRT23 +OMIM:606194 skos:exactMatch HGNC:6438 Unspecified KRT23 +OMIM:606194 skos:exactMatch HGNC_symbol:KRT23 Unspecified KRT23 +OMIM:606199 skos:exactMatch HGNC_symbol:IRX4 Unspecified IRX4 +OMIM:606199 skos:exactMatch UMLS:C1416477 Unspecified IRX4 +OMIM:606199 skos:exactMatch HGNC:6129 Unspecified IRX4 +OMIM:138295 skos:exactMatch UMLS:C1414437 Unspecified EPRS1 +OMIM:138295 skos:exactMatch HGNC_symbol:EPRS1 Unspecified EPRS1 +OMIM:138295 skos:exactMatch HGNC:3418 Unspecified EPRS1 +OMIM:606197 skos:exactMatch HGNC_symbol:IRX1 Unspecified IRX1 +OMIM:606197 skos:exactMatch HGNC:14358 Unspecified IRX1 +OMIM:606197 skos:exactMatch UMLS:C1422590 Unspecified IRX1 +OMIM:138297 skos:exactMatch HGNC:3355 Unspecified ENPEP +OMIM:138297 skos:exactMatch HGNC_symbol:ENPEP Unspecified ENPEP +OMIM:138297 skos:exactMatch UMLS:C1414406 Unspecified ENPEP +OMIM:606198 skos:exactMatch UMLS:C1422591 Unspecified IRX2 +OMIM:606198 skos:exactMatch HGNC_symbol:IRX2 Unspecified IRX2 +OMIM:606198 skos:exactMatch HGNC:14359 Unspecified IRX2 +OMIM:151250 skos:exactMatch UMLS:C1835435 Unspecified AL-A1 +OMIM:236640 skos:exactMatch UMLS:C1856052 Unspecified hydrocephalus with associated malformations +OMIM:138290 skos:exactMatch HGNC:4341 Unspecified GLUL +OMIM:138290 skos:exactMatch HGNC_symbol:GLUL Unspecified GLUL +OMIM:138290 skos:exactMatch UMLS:C1415119 Unspecified GLUL +OMIM:138292 skos:exactMatch HGNC_symbol:GFPT1 Unspecified GFPT1 +OMIM:138292 skos:exactMatch HGNC:4241 Unspecified GFPT1 +OMIM:138292 skos:exactMatch UMLS:C1415046 Unspecified GFPT1 +OMIM:618160 skos:exactMatch UMLS:C4748435 Unspecified pituitary hormone deficiency, combined or isolated, 7 +OMIM:618162 skos:exactMatch UMLS:C4748455 Unspecified spondyloepimetaphyseal dysplasia, krakow iia +OMIM:618161 skos:exactMatch ORPHA:475 Unspecified joubert syndrome 35 +OMIM:618161 skos:exactMatch UMLS:C4748442 Unspecified joubert syndrome 35 +OMIM:210050 skos:exactMatch UMLS:C1859519 Unspecified berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification +OMIM:618164 skos:exactMatch UMLS:C4748484 Unspecified cardiac, facial, and digital anomalies with developmental delay +OMIM:236680 skos:exactMatch UMLS:C1856016 Unspecified hydrolethalus syndrome 1 +OMIM:618163 skos:exactMatch UMLS:C4085706 Unspecified TMEM94 +OMIM:618163 skos:exactMatch HGNC_symbol:TMEM94 Unspecified TMEM94 +OMIM:618163 skos:exactMatch HGNC:28983 Unspecified TMEM94 +OMIM:618166 skos:exactMatch UMLS:C1824767 Unspecified CNTD1 +OMIM:618166 skos:exactMatch HGNC_symbol:CNTD1 Unspecified CNTD1 +OMIM:618166 skos:exactMatch HGNC:26847 Unspecified CNTD1 +OMIM:618165 skos:exactMatch UMLS:C4748488 Unspecified bone marrow failure syndrome 5 +OMIM:618168 skos:exactMatch UMLS:C4748517 Unspecified diarrhea 9 +OMIM:618167 skos:exactMatch UMLS:C4748496 Unspecified osteochondrodysplasia, brachydactyly, and overlapping malformed digits +OMIM:618169 skos:exactMatch HGNC:49513 Unspecified PANTR1 +OMIM:618169 skos:exactMatch UMLS:C3814918 Unspecified PANTR1 +OMIM:618169 skos:exactMatch HGNC_symbol:PANTR1 Unspecified PANTR1 +OMIM:261600 skos:exactMatch ORPHA:2209 Unspecified phenylketonuria +OMIM:261600 skos:exactMatch UMLS:C0751434 Unspecified phenylketonuria +OMIM:261600 skos:exactMatch ORPHA:716 Unspecified phenylketonuria +OMIM:606180 skos:exactMatch UMLS:C4748058 Unspecified EXOSC9 +OMIM:606180 skos:exactMatch HGNC:9137 Unspecified EXOSC9 +OMIM:606180 skos:exactMatch UMLS:C1539371 Unspecified EXOSC9 +OMIM:606180 skos:exactMatch HGNC_symbol:EXOSC9 Unspecified EXOSC9 +OMIM:606181 skos:exactMatch UMLS:C1421913 Unspecified DDX24 +OMIM:606181 skos:exactMatch HGNC_symbol:DDX24 Unspecified DDX24 +OMIM:606181 skos:exactMatch HGNC:13266 Unspecified DDX24 +OMIM:606184 skos:exactMatch UMLS:C1422786 Unspecified ADAMTS12 +OMIM:606184 skos:exactMatch HGNC_symbol:ADAMTS12 Unspecified ADAMTS12 +OMIM:606184 skos:exactMatch HGNC:14605 Unspecified ADAMTS12 +OMIM:606185 skos:exactMatch HGNC:18022 Unspecified TP53INP1 +OMIM:606185 skos:exactMatch HGNC_symbol:TP53INP1 Unspecified TP53INP1 +OMIM:606185 skos:exactMatch UMLS:C1425248 Unspecified TP53INP1 +OMIM:606182 skos:exactMatch HGNC:11939 Unspecified TNFSF9 +OMIM:606182 skos:exactMatch UMLS:C1420821 Unspecified TNFSF9 +OMIM:606182 skos:exactMatch HGNC_symbol:TNFSF9 Unspecified TNFSF9 +OMIM:606183 skos:exactMatch UMLS:C1853556 Unspecified laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy +OMIM:309950 skos:exactMatch UMLS:C1839671 Unspecified muscular dystrophy, hemizygous lethal iia +OMIM:606188 skos:exactMatch HGNC:206 Unspecified ADAM28 +OMIM:606188 skos:exactMatch UMLS:C1412197 Unspecified ADAM28 +OMIM:606188 skos:exactMatch HGNC_symbol:ADAM28 Unspecified ADAM28 +OMIM:606189 skos:exactMatch HGNC_symbol:CRIM1 Unspecified CRIM1 +OMIM:606189 skos:exactMatch HGNC:2359 Unspecified CRIM1 +OMIM:606189 skos:exactMatch UMLS:C1413711 Unspecified CRIM1 +OMIM:606186 skos:exactMatch UMLS:C1538430 Unspecified CACYBP +OMIM:606186 skos:exactMatch HGNC:30423 Unspecified CACYBP +OMIM:606186 skos:exactMatch HGNC_symbol:CACYBP Unspecified CACYBP +OMIM:606187 skos:exactMatch UMLS:C1853555 Unspecified alzheimer disease 7 +OMIM:618151 skos:exactMatch HGNC:13922 Unspecified TSBP1 +OMIM:618151 skos:exactMatch UMLS:C1422274 Unspecified TSBP1 +OMIM:618151 skos:exactMatch HGNC_symbol:TSBP1 Unspecified TSBP1 +OMIM:618150 skos:exactMatch UMLS:C1300285 Unspecified saul-wilson syndrome +OMIM:236670 skos:exactMatch UMLS:C0265221 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 +OMIM:236670 skos:exactMatch ORPHA:588 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 +OMIM:236670 skos:exactMatch UMLS:C4284790 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 +OMIM:236670 skos:exactMatch ORPHA:899 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 +OMIM:618153 skos:exactMatch UMLS:C4748403 Unspecified spermatogenic failure 34 +OMIM:618152 skos:exactMatch UMLS:C4748395 Unspecified spermatogenic failure 33 +OMIM:618155 skos:exactMatch UMLS:C4748418 Unspecified ophthalmoplegia, external, with rib and vertebral anomalies +OMIM:618154 skos:exactMatch UMLS:C4748408 Unspecified hennekam lymphangiectasia-lymphedema syndrome 3 +OMIM:618157 skos:exactMatch ORPHA:231671 Unspecified isolated growth hormone deficiency, iia 4 +OMIM:618157 skos:exactMatch UMLS:C4722273 Unspecified isolated growth hormone deficiency, iia 4 +OMIM:618156 skos:exactMatch UMLS:C4748427 Unspecified squalene synthase deficiency +OMIM:618159 skos:exactMatch UMLS:C3471429 Unspecified PPP1R21 +OMIM:618159 skos:exactMatch HGNC:30595 Unspecified PPP1R21 +OMIM:618159 skos:exactMatch HGNC_symbol:PPP1R21 Unspecified PPP1R21 +OMIM:618158 skos:exactMatch UMLS:C4748428 Unspecified intellectual developmental disorder with macrocephaly, seizures, and speech delay +OMIM:606170 skos:exactMatch UMLS:C1853566 Unspecified genitopatellar syndrome +OMIM:606170 skos:exactMatch ORPHA:85201 Unspecified genitopatellar syndrome +OMIM:224690 skos:exactMatch UMLS:C1868684 Unspecified meier-gorlin syndrome 1 +OMIM:224690 skos:exactMatch UMLS:C4552001 Unspecified meier-gorlin syndrome 1 +OMIM:606173 skos:exactMatch HGNC:19696 Unspecified GRPEL1 +OMIM:606173 skos:exactMatch HGNC_symbol:GRPEL1 Unspecified GRPEL1 +OMIM:606173 skos:exactMatch UMLS:C1426341 Unspecified GRPEL1 +OMIM:606174 skos:exactMatch UMLS:C1853565 Unspecified baculum, congenital absence of +OMIM:606171 skos:exactMatch HGNC:16292 Unspecified TRS-TGA2-1 +OMIM:606171 skos:exactMatch UMLS:C1424160 Unspecified TRS-TGA2-1 +OMIM:606171 skos:exactMatch HGNC_symbol:TRS-TGA2-1 Unspecified TRS-TGA2-1 +OMIM:606172 skos:exactMatch HGNC:16294 Unspecified TRS-TGA4-1 +OMIM:606172 skos:exactMatch UMLS:C1424162 Unspecified TRS-TGA4-1 +OMIM:606172 skos:exactMatch HGNC_symbol:TRS-TGA4-1 Unspecified TRS-TGA4-1 +OMIM:606177 skos:exactMatch UMLS:C0030593 Unspecified pars planitis +OMIM:606178 skos:exactMatch HGNC_symbol:HHIP Unspecified HHIP +OMIM:606178 skos:exactMatch HGNC:14866 Unspecified HHIP +OMIM:606178 skos:exactMatch UMLS:C1423009 Unspecified HHIP +OMIM:236660 skos:exactMatch UMLS:C1856051 Unspecified hydrocephalus, tall stature, joint laxity, and kyphoscoliosis +OMIM:234000 skos:exactMatch UMLS:C0015526 Unspecified factor 12 deficiency +OMIM:606175 skos:exactMatch UMLS:C1443228 Unspecified carnitine acetyltransferase deficiency +OMIM:606176 skos:exactMatch UMLS:C5393570 Unspecified diabetes mellitus, permanent neonatal, 1 +OMIM:606176 skos:exactMatch ORPHA:99885 Unspecified diabetes mellitus, permanent neonatal, 1 +OMIM:606176 skos:exactMatch ORPHA:79134 Unspecified diabetes mellitus, permanent neonatal, 1 +OMIM:606179 skos:exactMatch UMLS:C0152244 Unspecified aneurysmal bone cysts +OMIM:248600 skos:exactMatch UMLS:C2930990 Unspecified maple syrup urine disease +OMIM:248600 skos:exactMatch UMLS:C1621920 Unspecified maple syrup urine disease +OMIM:248600 skos:exactMatch UMLS:C0751285 Unspecified maple syrup urine disease +OMIM:248600 skos:exactMatch UMLS:C1855371 Unspecified maple syrup urine disease +OMIM:248600 skos:exactMatch UMLS:C1855369 Unspecified maple syrup urine disease +OMIM:248600 skos:exactMatch UMLS:C0024776 Unspecified maple syrup urine disease +OMIM:248600 skos:exactMatch UMLS:C0268569 Unspecified maple syrup urine disease +OMIM:248600 skos:exactMatch UMLS:C0268568 Unspecified maple syrup urine disease +OMIM:618092 skos:exactMatch UMLS:C4748152 Unspecified intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities +OMIM:618091 skos:exactMatch UMLS:C4748142 Unspecified spermatogenic failure 29 +OMIM:618094 skos:exactMatch UMLS:C4748162 Unspecified deafness, autosomal recessive 110 +OMIM:618093 skos:exactMatch UMLS:C4748158 Unspecified spinocerebellar ataxia 48 +OMIM:618096 skos:exactMatch UMLS:C4748170 Unspecified premature ovarian failure 15 +OMIM:618095 skos:exactMatch UMLS:C4748167 Unspecified intellectual developmental disorder, autosomal recessive 63 +OMIM:618098 skos:exactMatch UMLS:C4748184 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 +OMIM:618097 skos:exactMatch UMLS:C4748176 Unspecified microcephaly, growth restriction, and increased sister chromatid exchange 2 +OMIM:618099 skos:exactMatch HGNC_symbol:MRM1 Unspecified MRM1 +OMIM:618099 skos:exactMatch HGNC:26202 Unspecified MRM1 +OMIM:618099 skos:exactMatch UMLS:C1826283 Unspecified MRM1 +OMIM:209010 skos:exactMatch UMLS:C1859596 Unspecified atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease +OMIM:248610 skos:exactMatch HGNC:2698 Unspecified DBT +OMIM:248610 skos:exactMatch HGNC_symbol:DBT Unspecified DBT +OMIM:248610 skos:exactMatch UMLS:C1413925 Unspecified DBT +OMIM:248611 skos:exactMatch UMLS:C1412760 Unspecified BCKDHB +OMIM:248611 skos:exactMatch HGNC_symbol:BCKDHB Unspecified BCKDHB +OMIM:248611 skos:exactMatch HGNC:987 Unspecified BCKDHB +OMIM:618090 skos:exactMatch UMLS:C4748137 Unspecified neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum +OMIM:236600 skos:exactMatch UMLS:C3887608 Unspecified hydrocephalus, congenital, 1 +OMIM:618081 skos:exactMatch UMLS:C2681612 Unspecified ILDR2 +OMIM:618081 skos:exactMatch HGNC:18131 Unspecified ILDR2 +OMIM:618081 skos:exactMatch HGNC_symbol:ILDR2 Unspecified ILDR2 +OMIM:618080 skos:exactMatch HGNC_symbol:WDFY1 Unspecified WDFY1 +OMIM:618080 skos:exactMatch UMLS:C1426945 Unspecified WDFY1 +OMIM:618080 skos:exactMatch HGNC:20451 Unspecified WDFY1 +OMIM:618083 skos:exactMatch UMLS:C1424299 Unspecified WBP11 +OMIM:618083 skos:exactMatch HGNC_symbol:WBP11 Unspecified WBP11 +OMIM:618083 skos:exactMatch HGNC:16461 Unspecified WBP11 +OMIM:618082 skos:exactMatch HGNC:25651 Unspecified WDR33 +OMIM:618082 skos:exactMatch HGNC_symbol:WDR33 Unspecified WDR33 +OMIM:618082 skos:exactMatch UMLS:C1428508 Unspecified WDR33 +OMIM:618085 skos:exactMatch HGNC_symbol:PMFBP1 Unspecified PMFBP1 +OMIM:618085 skos:exactMatch UMLS:C1425049 Unspecified PMFBP1 +OMIM:618085 skos:exactMatch HGNC:17728 Unspecified PMFBP1 +OMIM:618084 skos:exactMatch UMLS:C4748093 Unspecified peeling skin syndrome 6 +OMIM:618087 skos:exactMatch UMLS:C4748120 Unspecified spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits +OMIM:618086 skos:exactMatch UMLS:C4748117 Unspecified spermatogenic failure 28 +OMIM:618089 skos:exactMatch UMLS:C4748135 Unspecified intellectual developmental disorder with dysmorphic facies and behavioral abnormalities +OMIM:618088 skos:exactMatch UMLS:C4748127 Unspecified neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +OMIM:187100 skos:exactMatch UMLS:C0040457 Unspecified teeth, supernumerary +OMIM:236635 skos:exactMatch UMLS:C0265216 Unspecified hydrocephalus due to congenital stenosis of aqueduct of sylvius +OMIM:210000 skos:exactMatch UMLS:C0221061 Unspecified behr syndrome +OMIM:618070 skos:exactMatch UMLS:C1425404 Unspecified ATP6V1C2 +OMIM:618070 skos:exactMatch HGNC:18264 Unspecified ATP6V1C2 +OMIM:618070 skos:exactMatch HGNC_symbol:ATP6V1C2 Unspecified ATP6V1C2 +OMIM:618072 skos:exactMatch UMLS:C1425406 Unspecified ATP6V0D2 +OMIM:618072 skos:exactMatch HGNC:18266 Unspecified ATP6V0D2 +OMIM:618072 skos:exactMatch HGNC_symbol:ATP6V0D2 Unspecified ATP6V0D2 +OMIM:618071 skos:exactMatch UMLS:C1425405 Unspecified ATP6V1G3 +OMIM:618071 skos:exactMatch HGNC:18265 Unspecified ATP6V1G3 +OMIM:618071 skos:exactMatch HGNC_symbol:ATP6V1G3 Unspecified ATP6V1G3 +OMIM:618074 skos:exactMatch UMLS:C4748079 Unspecified epilepsy, familial adult myoclonic, 6 +OMIM:618073 skos:exactMatch HGNC:31750 Unspecified SAMD12 +OMIM:618073 skos:exactMatch UMLS:C1539725 Unspecified SAMD12 +OMIM:618073 skos:exactMatch HGNC_symbol:SAMD12 Unspecified SAMD12 +OMIM:618076 skos:exactMatch UMLS:C4748081 Unspecified neurodevelopmental disorder with spasticity and poor growth +OMIM:618075 skos:exactMatch UMLS:C4748080 Unspecified epilepsy, familial adult myoclonic, 7 +OMIM:618078 skos:exactMatch UMLS:C4748084 Unspecified ovarian dysgenesis 6 +OMIM:618077 skos:exactMatch UMLS:C4748083 Unspecified inflammatory bowel disease 29 +OMIM:618079 skos:exactMatch UMLS:C4748092 Unspecified low density lipoprotein cholesterol level quantitative trait locus 8 +OMIM:606092 skos:exactMatch HGNC_symbol:DNAJC14 Unspecified DNAJC14 +OMIM:606092 skos:exactMatch HGNC:24581 Unspecified DNAJC14 +OMIM:606092 skos:exactMatch UMLS:C1428391 Unspecified DNAJC14 +OMIM:606093 skos:exactMatch HGNC:14650 Unspecified PPIG +OMIM:606093 skos:exactMatch UMLS:C1422813 Unspecified PPIG +OMIM:606093 skos:exactMatch HGNC_symbol:PPIG Unspecified PPIG +OMIM:606090 skos:exactMatch UMLS:C1413715 Unspecified CROT +OMIM:606090 skos:exactMatch HGNC_symbol:CROT Unspecified CROT +OMIM:606090 skos:exactMatch HGNC:2366 Unspecified CROT +OMIM:606091 skos:exactMatch HGNC:15620 Unspecified SIGLEC10 +OMIM:606091 skos:exactMatch UMLS:C1423625 Unspecified SIGLEC10 +OMIM:606091 skos:exactMatch HGNC_symbol:SIGLEC10 Unspecified SIGLEC10 +OMIM:606096 skos:exactMatch HGNC:15788 Unspecified None +OMIM:606096 skos:exactMatch HGNC_symbol:LGALS12 Unspecified None +OMIM:606096 skos:exactMatch UMLS:C1423730 Unspecified None +OMIM:606097 skos:exactMatch HGNC:8967 Unspecified PIGN +OMIM:606097 skos:exactMatch HGNC_symbol:PIGN Unspecified PIGN +OMIM:606097 skos:exactMatch UMLS:C1418568 Unspecified PIGN +OMIM:606094 skos:exactMatch HGNC:15482 Unspecified SIGLEC12 +OMIM:606094 skos:exactMatch UMLS:C1539771 Unspecified SIGLEC12 +OMIM:606094 skos:exactMatch HGNC_symbol:SIGLEC12 Unspecified SIGLEC12 +OMIM:606095 skos:exactMatch HGNC:14651 Unspecified PPIH +OMIM:606095 skos:exactMatch UMLS:C1422814 Unspecified PPIH +OMIM:606095 skos:exactMatch HGNC_symbol:PPIH Unspecified PPIH +OMIM:606098 skos:exactMatch HGNC_symbol:SNX6 Unspecified SNX6 +OMIM:606098 skos:exactMatch UMLS:C1423097 Unspecified SNX6 +OMIM:606098 skos:exactMatch HGNC:14970 Unspecified SNX6 +OMIM:606099 skos:exactMatch UMLS:C1334336 Unspecified LGALS8 +OMIM:606099 skos:exactMatch HGNC:6569 Unspecified LGALS8 +OMIM:606099 skos:exactMatch HGNC_symbol:LGALS8 Unspecified LGALS8 +OMIM:114290 skos:exactMatch UMLS:C1842462 Unspecified campomelic dysplasia +OMIM:114290 skos:exactMatch UMLS:C3549544 Unspecified campomelic dysplasia +OMIM:114290 skos:exactMatch UMLS:C1861922 Unspecified campomelic dysplasia +OMIM:114290 skos:exactMatch UMLS:C1861923 Unspecified campomelic dysplasia +OMIM:126255 skos:exactMatch UMLS:C1414076 Unspecified DLX2 +OMIM:126255 skos:exactMatch HGNC:2915 Unspecified DLX2 +OMIM:126255 skos:exactMatch HGNC_symbol:DLX2 Unspecified DLX2 +OMIM:114280 skos:exactMatch HGNC_symbol:CD52 Unspecified CDW52 +OMIM:114280 skos:exactMatch HGNC:1804 Unspecified CDW52 +OMIM:114280 skos:exactMatch UMLS:C1539083 Unspecified CDW52 +OMIM:126250 skos:exactMatch UMLS:C1852063 Unspecified distal osteosclerosis +OMIM:200600 skos:exactMatch UMLS:C0265273 Unspecified achondrogenesis, iia 1a +OMIM:114251 skos:exactMatch HGNC_symbol:CASQ2 Unspecified CASQ2 +OMIM:114251 skos:exactMatch HGNC:1513 Unspecified CASQ2 +OMIM:114251 skos:exactMatch UMLS:C1413135 Unspecified CASQ2 +OMIM:114250 skos:exactMatch HGNC_symbol:CASQ1 Unspecified CASQ1 +OMIM:114250 skos:exactMatch HGNC:1512 Unspecified CASQ1 +OMIM:114250 skos:exactMatch UMLS:C1413134 Unspecified CASQ1 +OMIM:200610 skos:exactMatch UMLS:C0220685 Unspecified achondrogenesis, iia 2 +OMIM:200610 skos:exactMatch ORPHA:93297 Unspecified achondrogenesis, iia 2 +OMIM:200610 skos:exactMatch ORPHA:93296 Unspecified achondrogenesis, iia 2 +OMIM:200610 skos:exactMatch ORPHA:932 Unspecified achondrogenesis, iia 2 +OMIM:114230 skos:exactMatch HGNC:1479 Unspecified CAPN2 +OMIM:114230 skos:exactMatch UMLS:C1413112 Unspecified CAPN2 +OMIM:114230 skos:exactMatch HGNC_symbol:CAPN2 Unspecified CAPN2 +OMIM:116896 skos:exactMatch HGNC:2557 Unspecified CUX1 +OMIM:116896 skos:exactMatch UMLS:C1413827 Unspecified CUX1 +OMIM:116896 skos:exactMatch HGNC_symbol:CUX1 Unspecified CUX1 +OMIM:116896 skos:exactMatch UMLS:C5193003 Unspecified CUX1 +OMIM:116897 skos:exactMatch HGNC_symbol:CEBPA Unspecified CEBPA +OMIM:116897 skos:exactMatch UMLS:C1413322 Unspecified CEBPA +OMIM:116897 skos:exactMatch HGNC:1833 Unspecified CEBPA +OMIM:116898 skos:exactMatch HGNC_symbol:CEBPD Unspecified CEBPD +OMIM:116898 skos:exactMatch HGNC:1835 Unspecified CEBPD +OMIM:116898 skos:exactMatch UMLS:C1413324 Unspecified CEBPD +OMIM:116899 skos:exactMatch HGNC_symbol:CDKN1A Unspecified CDKN1A +OMIM:116899 skos:exactMatch HGNC:1784 Unspecified CDKN1A +OMIM:116899 skos:exactMatch UMLS:C0249197 Unspecified CDKN1A +OMIM:116899 skos:exactMatch UMLS:C4015938 Unspecified CDKN1A +OMIM:114240 skos:exactMatch UMLS:C1413113 Unspecified CAPN3 +OMIM:114240 skos:exactMatch HGNC_symbol:CAPN3 Unspecified CAPN3 +OMIM:114240 skos:exactMatch HGNC:1480 Unspecified CAPN3 +OMIM:114220 skos:exactMatch HGNC_symbol:CAPN1 Unspecified CAPN1 +OMIM:114220 skos:exactMatch HGNC:1476 Unspecified CAPN1 +OMIM:114220 skos:exactMatch UMLS:C1413109 Unspecified CAPN1 +OMIM:126200 skos:exactMatch UMLS:C1868685 Unspecified multiple sclerosis, susceptibility to +OMIM:126200 skos:exactMatch UMLS:C3888106 Unspecified multiple sclerosis, susceptibility to +OMIM:116890 skos:exactMatch UMLS:C1413812 Unspecified CTSE +OMIM:116890 skos:exactMatch HGNC_symbol:CTSE Unspecified CTSE +OMIM:116890 skos:exactMatch HGNC:2530 Unspecified CTSE +OMIM:608701 skos:exactMatch HGNC_symbol:NMNAT2 Unspecified NMNAT2 +OMIM:608701 skos:exactMatch UMLS:C1424548 Unspecified NMNAT2 +OMIM:608701 skos:exactMatch HGNC:16789 Unspecified NMNAT2 +OMIM:608700 skos:exactMatch HGNC_symbol:NMNAT1 Unspecified NMNAT1 +OMIM:608700 skos:exactMatch HGNC:17877 Unspecified NMNAT1 +OMIM:608700 skos:exactMatch UMLS:C1425150 Unspecified NMNAT1 +OMIM:114213 skos:exactMatch HGNC_symbol:CALD1 Unspecified CALD1 +OMIM:114213 skos:exactMatch HGNC:1441 Unspecified CALD1 +OMIM:114213 skos:exactMatch UMLS:C1413086 Unspecified CALD1 +OMIM:114212 skos:exactMatch HGNC_symbol:CAPS Unspecified CAPS +OMIM:114212 skos:exactMatch HGNC:1487 Unspecified CAPS +OMIM:114212 skos:exactMatch UMLS:C1413120 Unspecified CAPS +OMIM:114210 skos:exactMatch HGNC:10494 Unspecified S100A4 +OMIM:114210 skos:exactMatch HGNC_symbol:S100A4 Unspecified S100A4 +OMIM:114210 skos:exactMatch UMLS:C1419786 Unspecified S100A4 +OMIM:116870 skos:exactMatch UMLS:C1861783 Unspecified celiac artery stenosis from compression by median arcuate ligament of diaphragm +OMIM:114217 skos:exactMatch HGNC_symbol:CANX Unspecified CANX +OMIM:114217 skos:exactMatch HGNC:1473 Unspecified CANX +OMIM:114217 skos:exactMatch UMLS:C1413107 Unspecified CANX +OMIM:116880 skos:exactMatch HGNC_symbol:CTSL Unspecified CTSL +OMIM:116880 skos:exactMatch UMLS:C1332807 Unspecified CTSL +OMIM:116880 skos:exactMatch HGNC:2537 Unspecified CTSL +OMIM:114204 skos:exactMatch HGNC_symbol:CACNA2D1 Unspecified CACNA2D1 +OMIM:114204 skos:exactMatch HGNC:1399 Unspecified CACNA2D1 +OMIM:114204 skos:exactMatch UMLS:C1413065 Unspecified CACNA2D1 +OMIM:114200 skos:exactMatch UMLS:C2751430 Unspecified camptodactyly 1 +OMIM:114200 skos:exactMatch UMLS:C1306668 Unspecified camptodactyly 1 +OMIM:116860 skos:exactMatch ORPHA:221061 Unspecified cerebral cavernous malformations +OMIM:116860 skos:exactMatch UMLS:C1366911 Unspecified cerebral cavernous malformations +OMIM:116860 skos:exactMatch UMLS:C2919945 Unspecified cerebral cavernous malformations +OMIM:114209 skos:exactMatch HGNC:1405 Unspecified CACNG1 +OMIM:114209 skos:exactMatch UMLS:C1413071 Unspecified CACNG1 +OMIM:114209 skos:exactMatch HGNC_symbol:CACNG1 Unspecified CACNG1 +OMIM:114208 skos:exactMatch HGNC:1397 Unspecified CACNA1S +OMIM:114208 skos:exactMatch UMLS:C1413064 Unspecified CACNA1S +OMIM:114208 skos:exactMatch HGNC_symbol:CACNA1S Unspecified CACNA1S +OMIM:114207 skos:exactMatch HGNC:1401 Unspecified CACNB1 +OMIM:114207 skos:exactMatch UMLS:C1413067 Unspecified CACNB1 +OMIM:114207 skos:exactMatch HGNC_symbol:CACNB1 Unspecified CACNB1 +OMIM:114206 skos:exactMatch HGNC:1391 Unspecified CACNA1D +OMIM:114206 skos:exactMatch UMLS:C1413058 Unspecified CACNA1D +OMIM:114206 skos:exactMatch HGNC_symbol:CACNA1D Unspecified CACNA1D +OMIM:114205 skos:exactMatch UMLS:C1832916 Unspecified CACNA1C +OMIM:114205 skos:exactMatch HGNC:1390 Unspecified CACNA1C +OMIM:114205 skos:exactMatch UMLS:C1413057 Unspecified CACNA1C +OMIM:114205 skos:exactMatch HGNC_symbol:CACNA1C Unspecified CACNA1C +OMIM:114205 skos:exactMatch UMLS:C2678478 Unspecified CACNA1C +OMIM:116850 skos:exactMatch UMLS:C1861799 Unspecified catatrichy +OMIM:608859 skos:exactMatch HGNC_symbol:CD109 Unspecified CD109 +OMIM:608859 skos:exactMatch HGNC:21685 Unspecified CD109 +OMIM:608859 skos:exactMatch UMLS:C1427694 Unspecified CD109 +OMIM:608858 skos:exactMatch HGNC:23098 Unspecified FGFR1OP2 +OMIM:608858 skos:exactMatch UMLS:C1851030 Unspecified FGFR1OP2 +OMIM:608858 skos:exactMatch UMLS:C1427915 Unspecified FGFR1OP2 +OMIM:608858 skos:exactMatch HGNC_symbol:FGFR1OP2 Unspecified FGFR1OP2 +OMIM:608857 skos:exactMatch UMLS:C1539146 Unspecified CTAGE3 +OMIM:608857 skos:exactMatch HGNC:24348 Unspecified CTAGE3 +OMIM:608857 skos:exactMatch HGNC_symbol:CTAGE3P Unspecified CTAGE3 +OMIM:608856 skos:exactMatch UMLS:C1539145 Unspecified CTAGE1 +OMIM:608856 skos:exactMatch HGNC:24346 Unspecified CTAGE1 +OMIM:608856 skos:exactMatch HGNC_symbol:CTAGE1 Unspecified CTAGE1 +OMIM:608862 skos:exactMatch HGNC_symbol:NAXE Unspecified NAXE +OMIM:608862 skos:exactMatch HGNC:18453 Unspecified NAXE +OMIM:608862 skos:exactMatch UMLS:C1425525 Unspecified NAXE +OMIM:606200 skos:exactMatch UMLS:C5200932 Unspecified BHLHE41 +OMIM:606200 skos:exactMatch HGNC:16617 Unspecified BHLHE41 +OMIM:606200 skos:exactMatch HGNC_symbol:BHLHE41 Unspecified BHLHE41 +OMIM:606200 skos:exactMatch UMLS:C1424440 Unspecified BHLHE41 +OMIM:608861 skos:exactMatch HGNC:18303 Unspecified ATP6V1H +OMIM:608861 skos:exactMatch HGNC_symbol:ATP6V1H Unspecified ATP6V1H +OMIM:608861 skos:exactMatch UMLS:C1425433 Unspecified ATP6V1H +OMIM:608860 skos:exactMatch HGNC_symbol:ASTL Unspecified ASTL +OMIM:608860 skos:exactMatch UMLS:C1540209 Unspecified ASTL +OMIM:608860 skos:exactMatch HGNC:31704 Unspecified ASTL +OMIM:606203 skos:exactMatch HGNC_symbol:GAB2 Unspecified GAB2 +OMIM:606203 skos:exactMatch UMLS:C1333653 Unspecified GAB2 +OMIM:606203 skos:exactMatch HGNC:14458 Unspecified GAB2 +OMIM:608866 skos:exactMatch UMLS:C3147312 Unspecified FRA10AC1 +OMIM:608866 skos:exactMatch HGNC_symbol:FRA10AC1 Unspecified FRA10AC1 +OMIM:608866 skos:exactMatch UMLS:C1837212 Unspecified FRA10AC1 +OMIM:608866 skos:exactMatch HGNC:1162 Unspecified FRA10AC1 +OMIM:608866 skos:exactMatch UMLS:C1414693 Unspecified FRA10AC1 +OMIM:608865 skos:exactMatch UMLS:C1424918 Unspecified URB1 +OMIM:608865 skos:exactMatch HGNC:17344 Unspecified URB1 +OMIM:608865 skos:exactMatch HGNC_symbol:URB1 Unspecified URB1 +OMIM:606204 skos:exactMatch HGNC_symbol:LY6D Unspecified LY6D +OMIM:606204 skos:exactMatch UMLS:C1421945 Unspecified LY6D +OMIM:606204 skos:exactMatch HGNC:13348 Unspecified LY6D +OMIM:606201 skos:exactMatch HGNC:12762 Unspecified WFS1 +OMIM:606201 skos:exactMatch UMLS:C4016960 Unspecified WFS1 +OMIM:606201 skos:exactMatch HGNC_symbol:WFS1 Unspecified WFS1 +OMIM:606201 skos:exactMatch UMLS:C1421501 Unspecified WFS1 +OMIM:606201 skos:exactMatch UMLS:C3280358 Unspecified WFS1 +OMIM:606201 skos:exactMatch UMLS:C1833021 Unspecified WFS1 +OMIM:606201 skos:exactMatch UMLS:C4551693 Unspecified WFS1 +OMIM:606201 skos:exactMatch UMLS:C3805412 Unspecified WFS1 +OMIM:608864 skos:exactMatch ORPHA:199306 Unspecified orofacial cleft 6, susceptibility to +OMIM:608864 skos:exactMatch UMLS:C1837213 Unspecified orofacial cleft 6, susceptibility to +OMIM:606202 skos:exactMatch HGNC:16472 Unspecified SLC45A2 +OMIM:606202 skos:exactMatch UMLS:C1822764 Unspecified SLC45A2 +OMIM:606202 skos:exactMatch HGNC_symbol:SLC45A2 Unspecified SLC45A2 +OMIM:608863 skos:exactMatch UMLS:C1826560 Unspecified PDPN +OMIM:608863 skos:exactMatch HGNC:29602 Unspecified PDPN +OMIM:608863 skos:exactMatch HGNC_symbol:PDPN Unspecified PDPN +OMIM:608848 skos:exactMatch HGNC:20851 Unspecified FNBP1L +OMIM:608848 skos:exactMatch HGNC_symbol:FNBP1L Unspecified FNBP1L +OMIM:608848 skos:exactMatch UMLS:C1539523 Unspecified FNBP1L +OMIM:608847 skos:exactMatch UMLS:C1539539 Unspecified FTMT +OMIM:608847 skos:exactMatch HGNC:17345 Unspecified FTMT +OMIM:608847 skos:exactMatch HGNC_symbol:FTMT Unspecified FTMT +OMIM:608846 skos:exactMatch UMLS:C1425585 Unspecified CPT1C +OMIM:608846 skos:exactMatch HGNC:18540 Unspecified CPT1C +OMIM:608846 skos:exactMatch HGNC_symbol:CPT1C Unspecified CPT1C +OMIM:608845 skos:exactMatch UMLS:C1859564 Unspecified ARL6 +OMIM:608845 skos:exactMatch HGNC:13210 Unspecified ARL6 +OMIM:608845 skos:exactMatch UMLS:C2675305 Unspecified ARL6 +OMIM:608845 skos:exactMatch HGNC_symbol:ARL6 Unspecified ARL6 +OMIM:608845 skos:exactMatch UMLS:C1421880 Unspecified ARL6 +OMIM:608845 skos:exactMatch UMLS:C3150808 Unspecified ARL6 +OMIM:608849 skos:exactMatch HGNC_symbol:UHMK1 Unspecified UHMK1 +OMIM:608849 skos:exactMatch HGNC:19683 Unspecified UHMK1 +OMIM:608849 skos:exactMatch UMLS:C1540160 Unspecified UHMK1 +OMIM:608851 skos:exactMatch HGNC:12836 Unspecified XRN2 +OMIM:608851 skos:exactMatch UMLS:C1421549 Unspecified XRN2 +OMIM:608851 skos:exactMatch HGNC_symbol:XRN2 Unspecified XRN2 +OMIM:608850 skos:exactMatch UMLS:C3888009 Unspecified macular dystrophy, retinal, 3 +OMIM:104500 skos:exactMatch UMLS:C0399368 Unspecified amelogenesis imperfecta, iia 1b +OMIM:608855 skos:exactMatch HGNC:13877 Unspecified TTYH2 +OMIM:608855 skos:exactMatch UMLS:C1422250 Unspecified TTYH2 +OMIM:608855 skos:exactMatch HGNC_symbol:TTYH2 Unspecified TTYH2 +OMIM:608854 skos:exactMatch HGNC_symbol:OSCP1 Unspecified None +OMIM:608854 skos:exactMatch HGNC:29971 Unspecified None +OMIM:608854 skos:exactMatch UMLS:C1823722 Unspecified None +OMIM:608853 skos:exactMatch UMLS:C1837221 Unspecified BLID +OMIM:608853 skos:exactMatch HGNC:33495 Unspecified BLID +OMIM:608853 skos:exactMatch HGNC_symbol:BLID Unspecified BLID +OMIM:608852 skos:exactMatch UMLS:C3160731 Unspecified pulmonary function +OMIM:608837 skos:exactMatch UMLS:C1837245 Unspecified carney complex variant +OMIM:608836 skos:exactMatch UMLS:C1833518 Unspecified carnitine palmitoyltransferase 2 deficiency, lethal neonatal +OMIM:608835 skos:exactMatch HGNC_symbol:ABCC13 Unspecified ABCC13 +OMIM:608835 skos:exactMatch UMLS:C1423916 Unspecified ABCC13 +OMIM:608835 skos:exactMatch HGNC:16022 Unspecified ABCC13 +OMIM:608834 skos:exactMatch HGNC_symbol:CREB3L2 Unspecified CREB3L2 +OMIM:608834 skos:exactMatch UMLS:C1850932 Unspecified CREB3L2 +OMIM:608834 skos:exactMatch HGNC:23720 Unspecified CREB3L2 +OMIM:608834 skos:exactMatch UMLS:C1428221 Unspecified CREB3L2 +OMIM:608839 skos:exactMatch HGNC:13249 Unspecified CAPN12 +OMIM:608839 skos:exactMatch HGNC_symbol:CAPN12 Unspecified CAPN12 +OMIM:608839 skos:exactMatch UMLS:C1421904 Unspecified CAPN12 +OMIM:608838 skos:exactMatch UMLS:C1427581 Unspecified VKORC1L1 +OMIM:608838 skos:exactMatch HGNC_symbol:VKORC1L1 Unspecified VKORC1L1 +OMIM:608838 skos:exactMatch HGNC:21492 Unspecified VKORC1L1 +OMIM:248390 skos:exactMatch UMLS:C1855433 Unspecified treacher collins syndrome 3 +OMIM:608840 skos:exactMatch ORPHA:98894 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 +OMIM:608840 skos:exactMatch UMLS:C1837229 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 +OMIM:608840 skos:exactMatch ORPHA:370968 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 +OMIM:608844 skos:exactMatch UMLS:C1425521 Unspecified NEIL1 +OMIM:608844 skos:exactMatch HGNC_symbol:NEIL1 Unspecified NEIL1 +OMIM:608844 skos:exactMatch HGNC:18448 Unspecified NEIL1 +OMIM:608843 skos:exactMatch HGNC_symbol:VASN Unspecified None +OMIM:608843 skos:exactMatch HGNC:18517 Unspecified None +OMIM:608843 skos:exactMatch UMLS:C1823617 Unspecified None +OMIM:608842 skos:exactMatch UMLS:C1538449 Unspecified CHCHD1 +OMIM:608842 skos:exactMatch HGNC:23518 Unspecified CHCHD1 +OMIM:608842 skos:exactMatch HGNC_symbol:CHCHD1 Unspecified CHCHD1 +OMIM:608841 skos:exactMatch UMLS:C1539133 Unspecified CPAMD8 +OMIM:608841 skos:exactMatch HGNC:23228 Unspecified CPAMD8 +OMIM:608841 skos:exactMatch HGNC_symbol:CPAMD8 Unspecified CPAMD8 +OMIM:608826 skos:exactMatch HGNC:16451 Unspecified CGB7 +OMIM:608826 skos:exactMatch HGNC_symbol:CGB7 Unspecified CGB7 +OMIM:608826 skos:exactMatch UMLS:C1424290 Unspecified CGB7 +OMIM:608825 skos:exactMatch HGNC:16452 Unspecified CGB5 +OMIM:608825 skos:exactMatch HGNC_symbol:CGB5 Unspecified CGB5 +OMIM:608825 skos:exactMatch UMLS:C1424291 Unspecified CGB5 +OMIM:608824 skos:exactMatch HGNC:16722 Unspecified CGB2 +OMIM:608824 skos:exactMatch HGNC_symbol:CGB2 Unspecified CGB2 +OMIM:608824 skos:exactMatch UMLS:C1424507 Unspecified CGB2 +OMIM:608823 skos:exactMatch HGNC_symbol:CGB1 Unspecified CGB1 +OMIM:608823 skos:exactMatch HGNC:16721 Unspecified CGB1 +OMIM:608823 skos:exactMatch UMLS:C1424506 Unspecified CGB1 +OMIM:608829 skos:exactMatch HGNC_symbol:SUMO4 Unspecified SUMO4 +OMIM:608829 skos:exactMatch UMLS:C1539897 Unspecified SUMO4 +OMIM:608829 skos:exactMatch UMLS:C1838260 Unspecified SUMO4 +OMIM:608829 skos:exactMatch HGNC:21181 Unspecified SUMO4 +OMIM:608828 skos:exactMatch HGNC:17904 Unspecified RNASEN +OMIM:608828 skos:exactMatch HGNC_symbol:DROSHA Unspecified RNASEN +OMIM:608828 skos:exactMatch UMLS:C1709966 Unspecified RNASEN +OMIM:608827 skos:exactMatch HGNC:16453 Unspecified CGB8 +OMIM:608827 skos:exactMatch HGNC_symbol:CGB8 Unspecified CGB8 +OMIM:608827 skos:exactMatch UMLS:C1424292 Unspecified CGB8 +OMIM:608833 skos:exactMatch HGNC:15888 Unspecified RTEL1 +OMIM:608833 skos:exactMatch UMLS:C1539711 Unspecified RTEL1 +OMIM:608833 skos:exactMatch HGNC_symbol:RTEL1 Unspecified RTEL1 +OMIM:608832 skos:exactMatch UMLS:C4310638 Unspecified GREM2 +OMIM:608832 skos:exactMatch UMLS:C1539615 Unspecified GREM2 +OMIM:608832 skos:exactMatch HGNC_symbol:GREM2 Unspecified GREM2 +OMIM:608832 skos:exactMatch HGNC:17655 Unspecified GREM2 +OMIM:608831 skos:exactMatch UMLS:C1837285 Unspecified restless legs syndrome, susceptibility to, 2 +OMIM:608830 skos:exactMatch HGNC:19977 Unspecified RDH12 +OMIM:608830 skos:exactMatch HGNC_symbol:RDH12 Unspecified RDH12 +OMIM:608830 skos:exactMatch UMLS:C1426577 Unspecified RDH12 +OMIM:606238 skos:exactMatch HGNC_symbol:IKZF5 Unspecified IKZF5 +OMIM:606238 skos:exactMatch UMLS:C5436874 Unspecified IKZF5 +OMIM:606238 skos:exactMatch UMLS:C1825591 Unspecified IKZF5 +OMIM:606238 skos:exactMatch HGNC:14283 Unspecified IKZF5 +OMIM:606239 skos:exactMatch HGNC_symbol:IKZF4 Unspecified IKZF4 +OMIM:606239 skos:exactMatch UMLS:C1421861 Unspecified IKZF4 +OMIM:606239 skos:exactMatch HGNC:13179 Unspecified IKZF4 +OMIM:618221 skos:exactMatch UMLS:C4748732 Unspecified intellectual developmental disorder, autosomal recessive 66 +OMIM:618220 skos:exactMatch UMLS:C4748725 Unspecified retinitis pigmentosa 84 +OMIM:618220 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 84 +OMIM:618223 skos:exactMatch UMLS:C4748741 Unspecified vertebral anomalies and variable endocrine and t-cell dysfunction +OMIM:618222 skos:exactMatch UMLS:C4748737 Unspecified mitochondrial complex 1 deficiency, nuclear iia 2 +OMIM:618225 skos:exactMatch UMLS:C4748753 Unspecified mitochondrial complex 1 deficiency, nuclear iia 4 +OMIM:618224 skos:exactMatch UMLS:C4748752 Unspecified mitochondrial complex 1 deficiency, nuclear iia 3 +OMIM:618227 skos:exactMatch UMLS:C1825901 Unspecified LRRC56 +OMIM:618227 skos:exactMatch HGNC:25430 Unspecified LRRC56 +OMIM:618227 skos:exactMatch HGNC_symbol:LRRC56 Unspecified LRRC56 +OMIM:618226 skos:exactMatch UMLS:C4748754 Unspecified mitochondrial complex 1 deficiency, nuclear iia 5 +OMIM:618218 skos:exactMatch UMLS:C4748715 Unspecified baker-gordon syndrome +OMIM:618217 skos:exactMatch HGNC:49511 Unspecified ELDR +OMIM:618217 skos:exactMatch UMLS:C3814916 Unspecified ELDR +OMIM:618217 skos:exactMatch HGNC_symbol:ELDR Unspecified ELDR +OMIM:248370 skos:exactMatch UMLS:C0432291 Unspecified mandibuloacral dysplasia with iia a lipodystrophy +OMIM:618219 skos:exactMatch UMLS:C4748721 Unspecified polydactyly, postaxial, iia a9 +OMIM:606240 skos:exactMatch UMLS:C4225410 Unspecified thyroid cancer, nonmedullary, 3 +OMIM:606243 skos:exactMatch UMLS:C0206657 Unspecified alveolar soft part sarcoma +OMIM:606244 skos:exactMatch UMLS:C1420452 Unspecified STAM2 +OMIM:606244 skos:exactMatch HGNC_symbol:STAM2 Unspecified STAM2 +OMIM:606244 skos:exactMatch HGNC:11358 Unspecified STAM2 +OMIM:606241 skos:exactMatch UMLS:C1333218 Unspecified DICER1 +OMIM:606241 skos:exactMatch HGNC_symbol:DICER1 Unspecified DICER1 +OMIM:606241 skos:exactMatch HGNC:17098 Unspecified DICER1 +OMIM:606242 skos:exactMatch UMLS:C1853480 Unspecified mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism +OMIM:606247 skos:exactMatch HGNC:16950 Unspecified STAMBP +OMIM:606247 skos:exactMatch HGNC_symbol:STAMBP Unspecified STAMBP +OMIM:606247 skos:exactMatch UMLS:C1424659 Unspecified STAMBP +OMIM:606248 skos:exactMatch HGNC:9755 Unspecified QPRT +OMIM:606248 skos:exactMatch UMLS:C1419184 Unspecified QPRT +OMIM:606248 skos:exactMatch HGNC_symbol:QPRT Unspecified QPRT +OMIM:606245 skos:exactMatch UMLS:C5394073 Unspecified SUZ12 +OMIM:606245 skos:exactMatch HGNC_symbol:SUZ12 Unspecified SUZ12 +OMIM:606245 skos:exactMatch UMLS:C1539902 Unspecified SUZ12 +OMIM:606245 skos:exactMatch HGNC:17101 Unspecified SUZ12 +OMIM:606246 skos:exactMatch UMLS:C1825635 Unspecified JAZF1 +OMIM:606246 skos:exactMatch HGNC:28917 Unspecified JAZF1 +OMIM:606246 skos:exactMatch HGNC_symbol:JAZF1 Unspecified JAZF1 +OMIM:606246 skos:exactMatch UMLS:C2676350 Unspecified JAZF1 +OMIM:606229 skos:exactMatch HGNC:3263 Unspecified AGO2 +OMIM:606229 skos:exactMatch UMLS:C5436892 Unspecified AGO2 +OMIM:606229 skos:exactMatch UMLS:C1414333 Unspecified AGO2 +OMIM:606229 skos:exactMatch HGNC_symbol:AGO2 Unspecified AGO2 +OMIM:606227 skos:exactMatch HGNC:18121 Unspecified MFRP +OMIM:606227 skos:exactMatch HGNC_symbol:MFRP Unspecified MFRP +OMIM:606227 skos:exactMatch UMLS:C1425327 Unspecified MFRP +OMIM:608889 skos:exactMatch HGNC:19288 Unspecified ACMSD +OMIM:608889 skos:exactMatch HGNC_symbol:ACMSD Unspecified ACMSD +OMIM:608889 skos:exactMatch UMLS:C1426143 Unspecified ACMSD +OMIM:606228 skos:exactMatch HGNC:3262 Unspecified AGO1 +OMIM:606228 skos:exactMatch UMLS:C1414332 Unspecified AGO1 +OMIM:606228 skos:exactMatch HGNC_symbol:AGO1 Unspecified AGO1 +OMIM:618210 skos:exactMatch UMLS:C1826809 Unspecified RFTN1 +OMIM:618210 skos:exactMatch HGNC_symbol:RFTN1 Unspecified RFTN1 +OMIM:618210 skos:exactMatch HGNC:30278 Unspecified RFTN1 +OMIM:618212 skos:exactMatch UMLS:C3811619 Unspecified LINC-PINT +OMIM:618212 skos:exactMatch HGNC_symbol:LINC-PINT Unspecified LINC-PINT +OMIM:618212 skos:exactMatch HGNC:26885 Unspecified LINC-PINT +OMIM:618211 skos:exactMatch HGNC:17663 Unspecified PITRM1 +OMIM:618211 skos:exactMatch UMLS:C1425030 Unspecified PITRM1 +OMIM:618211 skos:exactMatch HGNC_symbol:PITRM1 Unspecified PITRM1 +OMIM:618214 skos:exactMatch UMLS:C3814917 Unspecified LINC01157 +OMIM:618214 skos:exactMatch HGNC_symbol:LINC01157 Unspecified LINC01157 +OMIM:618214 skos:exactMatch HGNC:49512 Unspecified LINC01157 +OMIM:618213 skos:exactMatch UMLS:C4748708 Unspecified inflammatory bowel disease, immunodeficiency, and encephalopathy +OMIM:618216 skos:exactMatch HGNC_symbol:MIRLET7BHG Unspecified MIRLET7BHG +OMIM:618216 skos:exactMatch HGNC:37189 Unspecified MIRLET7BHG +OMIM:618216 skos:exactMatch UMLS:C2829897 Unspecified MIRLET7BHG +OMIM:618215 skos:exactMatch HGNC_symbol:RFTN2 Unspecified RFTN2 +OMIM:618215 skos:exactMatch UMLS:C4723820 Unspecified RFTN2 +OMIM:618215 skos:exactMatch HGNC:26402 Unspecified RFTN2 +OMIM:618207 skos:exactMatch UMLS:C1427098 Unspecified SCFD1 +OMIM:618207 skos:exactMatch HGNC:20726 Unspecified SCFD1 +OMIM:618207 skos:exactMatch HGNC_symbol:SCFD1 Unspecified SCFD1 +OMIM:618206 skos:exactMatch UMLS:C1823919 Unspecified ZC3H7B +OMIM:618206 skos:exactMatch HGNC_symbol:ZC3H7B Unspecified ZC3H7B +OMIM:618206 skos:exactMatch HGNC:30869 Unspecified ZC3H7B +OMIM:618209 skos:exactMatch UMLS:C3470487 Unspecified HAGLR +OMIM:618209 skos:exactMatch HGNC_symbol:HAGLR Unspecified HAGLR +OMIM:618209 skos:exactMatch HGNC:43755 Unspecified HAGLR +OMIM:618208 skos:exactMatch HGNC:49514 Unspecified LINC01159 +OMIM:618208 skos:exactMatch UMLS:C3814919 Unspecified LINC01159 +OMIM:618208 skos:exactMatch HGNC_symbol:LINC01159 Unspecified LINC01159 +OMIM:608891 skos:exactMatch HGNC_symbol:OSR1 Unspecified OSR1 +OMIM:608891 skos:exactMatch HGNC:8111 Unspecified OSR1 +OMIM:608891 skos:exactMatch UMLS:C1418191 Unspecified OSR1 +OMIM:608890 skos:exactMatch UMLS:C1837203 Unspecified waardenburg syndrome, iia 2d +OMIM:606232 skos:exactMatch UMLS:C1853490 Unspecified phelan-mcdermid syndrome +OMIM:606232 skos:exactMatch ORPHA:48652 Unspecified phelan-mcdermid syndrome +OMIM:608895 skos:exactMatch UMLS:C4225406 Unspecified macular degeneration, age-related, 3 +OMIM:608895 skos:exactMatch UMLS:C1837187 Unspecified macular degeneration, age-related, 3 +OMIM:608894 skos:exactMatch HGNC:21575 Unspecified AHI1 +OMIM:608894 skos:exactMatch UMLS:C1427622 Unspecified AHI1 +OMIM:608894 skos:exactMatch HGNC_symbol:AHI1 Unspecified AHI1 +OMIM:606233 skos:exactMatch HGNC:18454 Unspecified PROK1 +OMIM:606233 skos:exactMatch HGNC_symbol:PROK1 Unspecified PROK1 +OMIM:606233 skos:exactMatch UMLS:C1425526 Unspecified PROK1 +OMIM:606230 skos:exactMatch UMLS:C1853490 Unspecified SHANK3 +OMIM:606230 skos:exactMatch HGNC:14294 Unspecified SHANK3 +OMIM:606230 skos:exactMatch UMLS:C3151380 Unspecified SHANK3 +OMIM:606230 skos:exactMatch UMLS:C1422550 Unspecified SHANK3 +OMIM:606230 skos:exactMatch HGNC_symbol:SHANK3 Unspecified SHANK3 +OMIM:606230 skos:exactMatch UMLS:C4015968 Unspecified SHANK3 +OMIM:608893 skos:exactMatch UMLS:C1428660 Unspecified SLC6A19 +OMIM:608893 skos:exactMatch UMLS:C0018609 Unspecified SLC6A19 +OMIM:608893 skos:exactMatch HGNC:27960 Unspecified SLC6A19 +OMIM:608893 skos:exactMatch UMLS:C0543541 Unspecified SLC6A19 +OMIM:608893 skos:exactMatch HGNC_symbol:SLC6A19 Unspecified SLC6A19 +OMIM:608893 skos:exactMatch UMLS:C3148959 Unspecified SLC6A19 +OMIM:608892 skos:exactMatch UMLS:C1427038 Unspecified CHD7 +OMIM:608892 skos:exactMatch HGNC:20626 Unspecified CHD7 +OMIM:608892 skos:exactMatch HGNC_symbol:CHD7 Unspecified CHD7 +OMIM:606231 skos:exactMatch UMLS:C1853491 Unspecified APPL2 +OMIM:606231 skos:exactMatch HGNC_symbol:APPL2 Unspecified APPL2 +OMIM:606231 skos:exactMatch HGNC:18242 Unspecified APPL2 +OMIM:606236 skos:exactMatch UMLS:C3888091 Unspecified ASPSCR1 +OMIM:606236 skos:exactMatch HGNC_symbol:ASPSCR1 Unspecified ASPSCR1 +OMIM:606236 skos:exactMatch HGNC:13825 Unspecified ASPSCR1 +OMIM:606236 skos:exactMatch UMLS:C1422219 Unspecified ASPSCR1 +OMIM:608899 skos:exactMatch UMLS:C1825426 Unspecified None +OMIM:608899 skos:exactMatch HGNC_symbol:GTF2IRD2 Unspecified None +OMIM:608899 skos:exactMatch HGNC:30775 Unspecified None +OMIM:606237 skos:exactMatch HGNC_symbol:TGFBRAP1 Unspecified TGFBRAP1 +OMIM:606237 skos:exactMatch HGNC:16836 Unspecified TGFBRAP1 +OMIM:606237 skos:exactMatch UMLS:C1424583 Unspecified TGFBRAP1 +OMIM:608898 skos:exactMatch UMLS:C1837174 Unspecified hemophagocytic lymphohistiocytosis, familial, 3 +OMIM:608898 skos:exactMatch ORPHA:540 Unspecified hemophagocytic lymphohistiocytosis, familial, 3 +OMIM:608897 skos:exactMatch HGNC_symbol:UNC13D Unspecified UNC13D +OMIM:608897 skos:exactMatch UMLS:C1427947 Unspecified UNC13D +OMIM:608897 skos:exactMatch HGNC:23147 Unspecified UNC13D +OMIM:606234 skos:exactMatch HGNC_symbol:IKZF2 Unspecified IKZF2 +OMIM:606234 skos:exactMatch UMLS:C1825589 Unspecified IKZF2 +OMIM:606234 skos:exactMatch HGNC:13177 Unspecified IKZF2 +OMIM:608896 skos:exactMatch HGNC:10809 Unspecified SGCG +OMIM:608896 skos:exactMatch HGNC_symbol:SGCG Unspecified SGCG +OMIM:608896 skos:exactMatch UMLS:C1420009 Unspecified SGCG +OMIM:606235 skos:exactMatch UMLS:C1427067 Unspecified TXNRD3 +OMIM:606235 skos:exactMatch HGNC:20667 Unspecified TXNRD3 +OMIM:606235 skos:exactMatch HGNC_symbol:TXNRD3 Unspecified TXNRD3 +OMIM:606218 skos:exactMatch HGNC:19686 Unspecified SEPHS2 +OMIM:606218 skos:exactMatch HGNC_symbol:SEPHS2 Unspecified SEPHS2 +OMIM:606218 skos:exactMatch UMLS:C1426333 Unspecified SEPHS2 +OMIM:606219 skos:exactMatch HGNC_symbol:TRAP1 Unspecified TRAP1 +OMIM:606219 skos:exactMatch HGNC:16264 Unspecified TRAP1 +OMIM:606219 skos:exactMatch UMLS:C1420952 Unspecified TRAP1 +OMIM:608879 skos:exactMatch HGNC:23594 Unspecified VPS13C +OMIM:608879 skos:exactMatch UMLS:C1428142 Unspecified VPS13C +OMIM:608879 skos:exactMatch HGNC_symbol:VPS13C Unspecified VPS13C +OMIM:606216 skos:exactMatch UMLS:C1422427 Unspecified MSRB1 +OMIM:606216 skos:exactMatch HGNC_symbol:MSRB1 Unspecified MSRB1 +OMIM:606216 skos:exactMatch HGNC:14133 Unspecified MSRB1 +OMIM:608878 skos:exactMatch UMLS:C1837208 Unspecified gene expression, variation in, quantitative trait locus on chromosome 20 +OMIM:606217 skos:exactMatch UMLS:C1853508 Unspecified atrioventricular septal defect, susceptibility to, 2 +OMIM:606217 skos:exactMatch UMLS:C1853509 Unspecified atrioventricular septal defect, susceptibility to, 2 +OMIM:618201 skos:exactMatch UMLS:C4748688 Unspecified developmental and epileptic encephalopathy 68 +OMIM:618201 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 68 +OMIM:618200 skos:exactMatch HGNC:18302 Unspecified MDN1 +OMIM:618200 skos:exactMatch HGNC_symbol:MDN1 Unspecified MDN1 +OMIM:618200 skos:exactMatch UMLS:C1425432 Unspecified MDN1 +OMIM:618203 skos:exactMatch HGNC:25904 Unspecified TMTC4 +OMIM:618203 skos:exactMatch HGNC_symbol:TMTC4 Unspecified TMTC4 +OMIM:618203 skos:exactMatch UMLS:C1823454 Unspecified TMTC4 +OMIM:618202 skos:exactMatch HGNC:16410 Unspecified DNAJC30 +OMIM:618202 skos:exactMatch HGNC_symbol:DNAJC30 Unspecified DNAJC30 +OMIM:618202 skos:exactMatch UMLS:C2681419 Unspecified DNAJC30 +OMIM:618205 skos:exactMatch UMLS:C4748701 Unspecified snijders blok-campeau syndrome +OMIM:618204 skos:exactMatch ORPHA:397787 Unspecified immunodeficiency 15a +OMIM:618204 skos:exactMatch UMLS:C4748694 Unspecified immunodeficiency 15a +OMIM:608880 skos:exactMatch UMLS:C1427113 Unspecified ZFYVE16 +OMIM:608880 skos:exactMatch HGNC:20756 Unspecified ZFYVE16 +OMIM:608880 skos:exactMatch HGNC_symbol:ZFYVE16 Unspecified ZFYVE16 +OMIM:248350 skos:exactMatch UMLS:C1855453 Unspecified malocclusion and short stature +OMIM:606221 skos:exactMatch HGNC_symbol:IKZF3 Unspecified IKZF3 +OMIM:606221 skos:exactMatch UMLS:C1825590 Unspecified IKZF3 +OMIM:606221 skos:exactMatch HGNC:13178 Unspecified IKZF3 +OMIM:608884 skos:exactMatch HGNC:17770 Unspecified RALGAPA1 +OMIM:608884 skos:exactMatch UMLS:C1425072 Unspecified RALGAPA1 +OMIM:608884 skos:exactMatch HGNC_symbol:RALGAPA1 Unspecified RALGAPA1 +OMIM:608884 skos:exactMatch UMLS:C5394091 Unspecified RALGAPA1 +OMIM:606222 skos:exactMatch HGNC:5953 Unspecified IGSF6 +OMIM:606222 skos:exactMatch UMLS:C1416375 Unspecified IGSF6 +OMIM:606222 skos:exactMatch HGNC_symbol:IGSF6 Unspecified IGSF6 +OMIM:273300 skos:exactMatch UMLS:C3463918 Unspecified testicular germ cell tumor +OMIM:273300 skos:exactMatch UMLS:C1336708 Unspecified testicular germ cell tumor +OMIM:273300 skos:exactMatch UMLS:C0334517 Unspecified testicular germ cell tumor +OMIM:273300 skos:exactMatch UMLS:C0014145 Unspecified testicular germ cell tumor +OMIM:273300 skos:exactMatch UMLS:C0238451 Unspecified testicular germ cell tumor +OMIM:273300 skos:exactMatch UMLS:C1266158 Unspecified testicular germ cell tumor +OMIM:273300 skos:exactMatch UMLS:C0036631 Unspecified testicular germ cell tumor +OMIM:608882 skos:exactMatch HGNC_symbol:MICAL3 Unspecified MICAL3 +OMIM:608882 skos:exactMatch HGNC:24694 Unspecified MICAL3 +OMIM:608882 skos:exactMatch UMLS:C1537696 Unspecified MICAL3 +OMIM:606220 skos:exactMatch UMLS:C1853507 Unspecified intellectual developmental disorder with short stature, facial anomalies, and speech defects +OMIM:608881 skos:exactMatch HGNC_symbol:MICAL2 Unspecified MICAL2 +OMIM:608881 skos:exactMatch HGNC:24693 Unspecified MICAL2 +OMIM:608881 skos:exactMatch UMLS:C1537695 Unspecified MICAL2 +OMIM:141500 skos:exactMatch ORPHA:569 Unspecified migraine, familial hemiplegic, 1 +OMIM:141500 skos:exactMatch UMLS:C1832884 Unspecified migraine, familial hemiplegic, 1 +OMIM:606225 skos:exactMatch UMLS:C1422656 Unspecified TAS1R1 +OMIM:606225 skos:exactMatch HGNC_symbol:TAS1R1 Unspecified TAS1R1 +OMIM:606225 skos:exactMatch HGNC:14448 Unspecified TAS1R1 +OMIM:608888 skos:exactMatch UMLS:C1837204 Unspecified None +OMIM:608888 skos:exactMatch HGNC_symbol:RBM45 Unspecified None +OMIM:608888 skos:exactMatch HGNC:24468 Unspecified None +OMIM:608887 skos:exactMatch HGNC_symbol:PURB Unspecified PURB +OMIM:608887 skos:exactMatch HGNC:9702 Unspecified PURB +OMIM:608887 skos:exactMatch UMLS:C1419138 Unspecified PURB +OMIM:606226 skos:exactMatch HGNC_symbol:TAS1R2 Unspecified TAS1R2 +OMIM:606226 skos:exactMatch UMLS:C1423042 Unspecified TAS1R2 +OMIM:606226 skos:exactMatch HGNC:14905 Unspecified TAS1R2 +OMIM:608886 skos:exactMatch HGNC_symbol:PPARGC1B Unspecified PPARGC1B +OMIM:608886 skos:exactMatch UMLS:C1428918 Unspecified PPARGC1B +OMIM:608886 skos:exactMatch HGNC:30022 Unspecified PPARGC1B +OMIM:606223 skos:exactMatch HGNC:9559 Unspecified PSMD2 +OMIM:606223 skos:exactMatch UMLS:C1419032 Unspecified PSMD2 +OMIM:606223 skos:exactMatch HGNC_symbol:PSMD2 Unspecified PSMD2 +OMIM:606224 skos:exactMatch HGNC:17820 Unspecified NT5C3A +OMIM:606224 skos:exactMatch UMLS:C1425102 Unspecified NT5C3A +OMIM:606224 skos:exactMatch HGNC_symbol:NT5C3A Unspecified NT5C3A +OMIM:608885 skos:exactMatch UMLS:C1837206 Unspecified stomatin-deficient cryohydrocytosis with neurologic defects +OMIM:606207 skos:exactMatch HGNC:11001 Unspecified SLC28A1 +OMIM:606207 skos:exactMatch HGNC_symbol:SLC28A1 Unspecified SLC28A1 +OMIM:606207 skos:exactMatch UMLS:C1420169 Unspecified SLC28A1 +OMIM:606208 skos:exactMatch HGNC:11002 Unspecified SLC28A2 +OMIM:606208 skos:exactMatch HGNC_symbol:SLC28A2 Unspecified SLC28A2 +OMIM:606208 skos:exactMatch UMLS:C1420170 Unspecified SLC28A2 +OMIM:608869 skos:exactMatch HGNC_symbol:LRIG2 Unspecified LRIG2 +OMIM:608869 skos:exactMatch UMLS:C1427192 Unspecified LRIG2 +OMIM:608869 skos:exactMatch HGNC:20889 Unspecified LRIG2 +OMIM:608868 skos:exactMatch HGNC_symbol:LRIG1 Unspecified LRIG1 +OMIM:608868 skos:exactMatch UMLS:C1424933 Unspecified LRIG1 +OMIM:608868 skos:exactMatch HGNC:17360 Unspecified LRIG1 +OMIM:606205 skos:exactMatch HGNC:11054 Unspecified SLC6A7 +OMIM:606205 skos:exactMatch UMLS:C1420218 Unspecified SLC6A7 +OMIM:606205 skos:exactMatch HGNC_symbol:SLC6A7 Unspecified SLC6A7 +OMIM:606206 skos:exactMatch UMLS:C1425724 Unspecified MT4 +OMIM:606206 skos:exactMatch HGNC:18705 Unspecified MT4 +OMIM:606206 skos:exactMatch HGNC_symbol:MT4 Unspecified MT4 +OMIM:608867 skos:exactMatch HGNC_symbol:DUSP10 Unspecified DUSP10 +OMIM:608867 skos:exactMatch HGNC:3065 Unspecified DUSP10 +OMIM:608867 skos:exactMatch UMLS:C1414181 Unspecified DUSP10 +OMIM:606209 skos:exactMatch HGNC_symbol:YKT6 Unspecified YKT6 +OMIM:606209 skos:exactMatch HGNC:16959 Unspecified YKT6 +OMIM:606209 skos:exactMatch UMLS:C1823893 Unspecified YKT6 +OMIM:248360 skos:exactMatch ORPHA:943 Unspecified malonyl-coa decarboxylase deficiency +OMIM:248360 skos:exactMatch UMLS:C0342793 Unspecified malonyl-coa decarboxylase deficiency +OMIM:606210 skos:exactMatch UMLS:C1423899 Unspecified SELENON +OMIM:606210 skos:exactMatch UMLS:C0546264 Unspecified SELENON +OMIM:606210 skos:exactMatch HGNC_symbol:SELENON Unspecified SELENON +OMIM:606210 skos:exactMatch HGNC:15999 Unspecified SELENON +OMIM:606210 skos:exactMatch UMLS:C0410180 Unspecified SELENON +OMIM:608873 skos:exactMatch HGNC:10739 Unspecified SEMA6B +OMIM:608873 skos:exactMatch HGNC_symbol:SEMA6B Unspecified SEMA6B +OMIM:608873 skos:exactMatch UMLS:C5394362 Unspecified SEMA6B +OMIM:608873 skos:exactMatch UMLS:C1419957 Unspecified SEMA6B +OMIM:608872 skos:exactMatch HGNC:23641 Unspecified NIPSNAP3B +OMIM:608872 skos:exactMatch UMLS:C1428178 Unspecified NIPSNAP3B +OMIM:608872 skos:exactMatch HGNC_symbol:NIPSNAP3B Unspecified NIPSNAP3B +OMIM:606211 skos:exactMatch HGNC_symbol:SIRT6 Unspecified SIRT6 +OMIM:606211 skos:exactMatch UMLS:C1423066 Unspecified SIRT6 +OMIM:606211 skos:exactMatch HGNC:14934 Unspecified SIRT6 +OMIM:608871 skos:exactMatch HGNC:23619 Unspecified NIPSNAP3A +OMIM:608871 skos:exactMatch UMLS:C1428165 Unspecified NIPSNAP3A +OMIM:608871 skos:exactMatch HGNC_symbol:NIPSNAP3A Unspecified NIPSNAP3A +OMIM:608870 skos:exactMatch UMLS:C1537590 Unspecified LRIG3 +OMIM:608870 skos:exactMatch HGNC_symbol:LRIG3 Unspecified LRIG3 +OMIM:608870 skos:exactMatch HGNC:30991 Unspecified LRIG3 +OMIM:606214 skos:exactMatch UMLS:C1423035 Unspecified SPTBN4 +OMIM:606214 skos:exactMatch HGNC:14896 Unspecified SPTBN4 +OMIM:606214 skos:exactMatch HGNC_symbol:SPTBN4 Unspecified SPTBN4 +OMIM:608877 skos:exactMatch HGNC:23595 Unspecified VPS13D +OMIM:608877 skos:exactMatch UMLS:C1428143 Unspecified VPS13D +OMIM:608877 skos:exactMatch HGNC_symbol:VPS13D Unspecified VPS13D +OMIM:608876 skos:exactMatch UMLS:C1826547 Unspecified PCF11 +OMIM:608876 skos:exactMatch HGNC:30097 Unspecified PCF11 +OMIM:608876 skos:exactMatch HGNC_symbol:PCF11 Unspecified PCF11 +OMIM:606215 skos:exactMatch UMLS:C1853513 Unspecified atrioventricular septal defect +OMIM:606215 skos:exactMatch UMLS:C1389016 Unspecified atrioventricular septal defect +OMIM:606215 skos:exactMatch UMLS:C0014116 Unspecified atrioventricular septal defect +OMIM:606212 skos:exactMatch HGNC_symbol:SIRT7 Unspecified SIRT7 +OMIM:606212 skos:exactMatch HGNC:14935 Unspecified SIRT7 +OMIM:606212 skos:exactMatch UMLS:C1423067 Unspecified SIRT7 +OMIM:608875 skos:exactMatch UMLS:C1837209 Unspecified gene expression, variation in, quantitative trait locus on chromosome 14 +OMIM:606213 skos:exactMatch HGNC:11325 Unspecified SSR3 +OMIM:606213 skos:exactMatch HGNC_symbol:SSR3 Unspecified SSR3 +OMIM:606213 skos:exactMatch UMLS:C1420430 Unspecified SSR3 +OMIM:608874 skos:exactMatch UMLS:C1837210 Unspecified orofacial cleft 5 +OMIM:608874 skos:exactMatch ORPHA:199306 Unspecified orofacial cleft 5 +OMIM:608874 skos:exactMatch ORPHA:199302 Unspecified orofacial cleft 5 +OMIM:608874 skos:exactMatch ORPHA:141291 Unspecified orofacial cleft 5 +OMIM:309800 skos:exactMatch ORPHA:568 Unspecified microphthalmia, syndromic 1 +OMIM:309800 skos:exactMatch UMLS:C0796016 Unspecified microphthalmia, syndromic 1 +OMIM:618261 skos:exactMatch ORPHA:538958 Unspecified lymphoproliferative syndrome 3 +OMIM:618261 skos:exactMatch UMLS:C4748863 Unspecified lymphoproliferative syndrome 3 +OMIM:618260 skos:exactMatch HGNC:24856 Unspecified CCDC47 +OMIM:618260 skos:exactMatch UMLS:C1824571 Unspecified CCDC47 +OMIM:618260 skos:exactMatch HGNC_symbol:CCDC47 Unspecified CCDC47 +OMIM:618263 skos:exactMatch UMLS:C1539416 Unspecified CALHM3 +OMIM:618263 skos:exactMatch HGNC:23458 Unspecified CALHM3 +OMIM:618263 skos:exactMatch HGNC_symbol:CALHM3 Unspecified CALHM3 +OMIM:309801 skos:exactMatch UMLS:C0796070 Unspecified linear skin defects with multiple congenital anomalies 1 +OMIM:618262 skos:exactMatch UMLS:C1424589 Unspecified CREB5 +OMIM:618262 skos:exactMatch HGNC_symbol:CREB5 Unspecified CREB5 +OMIM:618262 skos:exactMatch HGNC:16844 Unspecified CREB5 +OMIM:618265 skos:exactMatch UMLS:C4748872 Unspecified arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +OMIM:618264 skos:exactMatch UMLS:C4748869 Unspecified mirror movements 4 +OMIM:618267 skos:exactMatch UMLS:C4748876 Unspecified epidermodysplasia verruciformis, susceptibility to, 3 +OMIM:618266 skos:exactMatch UMLS:C4748873 Unspecified pontocerebellar hypoplasia, iia 12 +OMIM:618269 skos:exactMatch HGNC:15992 Unspecified ZNF341 +OMIM:618269 skos:exactMatch UMLS:C1423893 Unspecified ZNF341 +OMIM:618269 skos:exactMatch HGNC_symbol:ZNF341 Unspecified ZNF341 +OMIM:618268 skos:exactMatch UMLS:C4748898 Unspecified trichohepatoneurodevelopmental syndrome +OMIM:606280 skos:exactMatch HGNC_symbol:NCAPG Unspecified NCAPG +OMIM:606280 skos:exactMatch HGNC:24304 Unspecified NCAPG +OMIM:606280 skos:exactMatch UMLS:C1826382 Unspecified NCAPG +OMIM:606283 skos:exactMatch HGNC_symbol:SORCS1 Unspecified SORCS1 +OMIM:606283 skos:exactMatch UMLS:C1539803 Unspecified SORCS1 +OMIM:606283 skos:exactMatch HGNC:16697 Unspecified SORCS1 +OMIM:606284 skos:exactMatch HGNC_symbol:SORCS2 Unspecified SORCS2 +OMIM:606284 skos:exactMatch UMLS:C1539804 Unspecified SORCS2 +OMIM:606284 skos:exactMatch HGNC:16698 Unspecified SORCS2 +OMIM:606281 skos:exactMatch UMLS:C1419205 Unspecified RAB38 +OMIM:606281 skos:exactMatch HGNC_symbol:RAB38 Unspecified RAB38 +OMIM:606281 skos:exactMatch HGNC:9776 Unspecified RAB38 +OMIM:606282 skos:exactMatch UMLS:C1853451 Unspecified deafness, autosomal dominant 24 +OMIM:606288 skos:exactMatch HGNC:8696 Unspecified PCDHGA1 +OMIM:606288 skos:exactMatch UMLS:C1418345 Unspecified PCDHGA1 +OMIM:606288 skos:exactMatch HGNC_symbol:PCDHGA1 Unspecified PCDHGA1 +OMIM:606285 skos:exactMatch HGNC_symbol:SORCS3 Unspecified SORCS3 +OMIM:606285 skos:exactMatch UMLS:C1539805 Unspecified SORCS3 +OMIM:606285 skos:exactMatch UMLS:C2986382 Unspecified SORCS3 +OMIM:606285 skos:exactMatch HGNC:16699 Unspecified SORCS3 +OMIM:606286 skos:exactMatch UMLS:C1425700 Unspecified DDX43 +OMIM:606286 skos:exactMatch HGNC:18677 Unspecified DDX43 +OMIM:606286 skos:exactMatch HGNC_symbol:DDX43 Unspecified DDX43 +OMIM:606289 skos:exactMatch HGNC:8700 Unspecified PCDHGA2 +OMIM:606289 skos:exactMatch UMLS:C1418349 Unspecified PCDHGA2 +OMIM:606289 skos:exactMatch HGNC_symbol:PCDHGA2 Unspecified PCDHGA2 +OMIM:618250 skos:exactMatch UMLS:C4748830 Unspecified mitochondrial complex 1 deficiency, nuclear iia 29 +OMIM:310800 skos:exactMatch UMLS:C1839579 Unspecified nystagmus, myoclonic +OMIM:618252 skos:exactMatch UMLS:C4748839 Unspecified mitochondrial complex 1 deficiency, nuclear iia 32 +OMIM:618251 skos:exactMatch UMLS:C4748838 Unspecified mitochondrial complex 1 deficiency, nuclear iia 31 +OMIM:618254 skos:exactMatch UMLS:C4748841 Unspecified ciliary dyskinesia, primary, 39 +OMIM:618253 skos:exactMatch UMLS:C4748840 Unspecified mitochondrial complex 1 deficiency, nuclear iia 33 +OMIM:618256 skos:exactMatch UMLS:C4748854 Unspecified biparental mitochondrial DNA transmission +OMIM:618255 skos:exactMatch UMLS:C1426528 Unspecified MYORG +OMIM:618255 skos:exactMatch HGNC:19918 Unspecified MYORG +OMIM:618255 skos:exactMatch HGNC_symbol:MYORG Unspecified MYORG +OMIM:618258 skos:exactMatch UMLS:C1822663 Unspecified SEC11A +OMIM:618258 skos:exactMatch HGNC_symbol:SEC11A Unspecified SEC11A +OMIM:618258 skos:exactMatch HGNC:17718 Unspecified SEC11A +OMIM:618257 skos:exactMatch UMLS:C4748855 Unspecified deafness, autosomal recessive 112 +OMIM:618259 skos:exactMatch HGNC_symbol:LINC01565 Unspecified LINC01565 +OMIM:618259 skos:exactMatch UMLS:C1708150 Unspecified LINC01565 +OMIM:618259 skos:exactMatch UMLS:C4749154 Unspecified LINC01565 +OMIM:618259 skos:exactMatch HGNC:17099 Unspecified LINC01565 +OMIM:606272 skos:exactMatch UMLS:C1413803 Unspecified CTNS +OMIM:606272 skos:exactMatch HGNC_symbol:CTNS Unspecified CTNS +OMIM:606272 skos:exactMatch HGNC:2518 Unspecified CTNS +OMIM:606273 skos:exactMatch HGNC:3259 Unspecified EIF2B3 +OMIM:606273 skos:exactMatch UMLS:C1414329 Unspecified EIF2B3 +OMIM:606273 skos:exactMatch HGNC_symbol:EIF2B3 Unspecified EIF2B3 +OMIM:248340 skos:exactMatch UMLS:C0796032 Unspecified 3mc syndrome 3 +OMIM:606270 skos:exactMatch UMLS:C1423634 Unspecified TLR10 +OMIM:606270 skos:exactMatch HGNC_symbol:TLR10 Unspecified TLR10 +OMIM:606270 skos:exactMatch HGNC:15634 Unspecified TLR10 +OMIM:606271 skos:exactMatch HGNC_symbol:DISC2 Unspecified DISC2 +OMIM:606271 skos:exactMatch UMLS:C1414055 Unspecified DISC2 +OMIM:606271 skos:exactMatch HGNC:2889 Unspecified DISC2 +OMIM:606276 skos:exactMatch HGNC:14882 Unspecified CRTAC1 +OMIM:606276 skos:exactMatch UMLS:C1423022 Unspecified CRTAC1 +OMIM:606276 skos:exactMatch HGNC_symbol:CRTAC1 Unspecified CRTAC1 +OMIM:606277 skos:exactMatch HGNC_symbol:TOLLIP Unspecified TOLLIP +OMIM:606277 skos:exactMatch HGNC:16476 Unspecified TOLLIP +OMIM:606277 skos:exactMatch UMLS:C1336655 Unspecified TOLLIP +OMIM:606274 skos:exactMatch UMLS:C1413757 Unspecified CSNK1G1 +OMIM:606274 skos:exactMatch HGNC_symbol:CSNK1G1 Unspecified CSNK1G1 +OMIM:606274 skos:exactMatch UMLS:C2986382 Unspecified CSNK1G1 +OMIM:606274 skos:exactMatch HGNC:2454 Unspecified CSNK1G1 +OMIM:606278 skos:exactMatch HGNC:16712 Unspecified FBXW7 +OMIM:606278 skos:exactMatch UMLS:C1333533 Unspecified FBXW7 +OMIM:606278 skos:exactMatch HGNC_symbol:FBXW7 Unspecified FBXW7 +OMIM:606279 skos:exactMatch HGNC_symbol:ABI3BP Unspecified ABI3BP +OMIM:606279 skos:exactMatch UMLS:C1538899 Unspecified ABI3BP +OMIM:606279 skos:exactMatch HGNC:17265 Unspecified ABI3BP +OMIM:618241 skos:exactMatch UMLS:C4748791 Unspecified mitochondrial complex 1 deficiency, nuclear iia 19 +OMIM:165510 skos:exactMatch UMLS:C5435585 Unspecified optic atrophy 13 with retinal and foveal abnormalities +OMIM:618240 skos:exactMatch UMLS:C4748790 Unspecified mitochondrial complex 1 deficiency, nuclear iia 18 +OMIM:618243 skos:exactMatch UMLS:C4748796 Unspecified mitochondrial complex 1 deficiency, nuclear iia 22 +OMIM:618242 skos:exactMatch ORPHA:2609 Unspecified mitochondrial complex 1 deficiency, nuclear iia 21 +OMIM:618242 skos:exactMatch UMLS:C4748792 Unspecified mitochondrial complex 1 deficiency, nuclear iia 21 +OMIM:248300 skos:exactMatch UMLS:C0025221 Unspecified mal lange meleda +OMIM:618245 skos:exactMatch UMLS:C4748803 Unspecified mitochondrial complex 1 deficiency, nuclear iia 24 +OMIM:618244 skos:exactMatch ORPHA:255241 Unspecified mitochondrial complex 1 deficiency, nuclear iia 23 +OMIM:618244 skos:exactMatch UMLS:C4748799 Unspecified mitochondrial complex 1 deficiency, nuclear iia 23 +OMIM:618247 skos:exactMatch UMLS:C4748809 Unspecified mitochondrial complex 1 deficiency, nuclear iia 26 +OMIM:618246 skos:exactMatch UMLS:C4748806 Unspecified mitochondrial complex 1 deficiency, nuclear iia 25 +OMIM:618249 skos:exactMatch UMLS:C4748827 Unspecified mitochondrial complex 1 deficiency, nuclear iia 28 +OMIM:618248 skos:exactMatch UMLS:C4748826 Unspecified mitochondrial complex 1 deficiency, nuclear iia 27 +OMIM:618239 skos:exactMatch UMLS:C4748786 Unspecified mitochondrial complex 1 deficiency, nuclear iia 17 +OMIM:618239 skos:exactMatch ORPHA:255241 Unspecified mitochondrial complex 1 deficiency, nuclear iia 17 +OMIM:606261 skos:exactMatch HGNC_symbol:NUDT6 Unspecified NUDT6 +OMIM:606261 skos:exactMatch UMLS:C1417884 Unspecified NUDT6 +OMIM:606261 skos:exactMatch HGNC:8053 Unspecified NUDT6 +OMIM:606260 skos:exactMatch HGNC:14596 Unspecified MTMR9 +OMIM:606260 skos:exactMatch HGNC_symbol:MTMR9 Unspecified MTMR9 +OMIM:606260 skos:exactMatch UMLS:C1422778 Unspecified MTMR9 +OMIM:606265 skos:exactMatch HGNC:11958 Unspecified EP400 +OMIM:606265 skos:exactMatch HGNC_symbol:EP400 Unspecified EP400 +OMIM:606265 skos:exactMatch UMLS:C1420836 Unspecified EP400 +OMIM:251950 skos:exactMatch ORPHA:2597 Unspecified mitochondrial myopathy with lactic acidosis +OMIM:251950 skos:exactMatch UMLS:C1855033 Unspecified mitochondrial myopathy with lactic acidosis +OMIM:606266 skos:exactMatch HGNC:24132 Unspecified BMF +OMIM:606266 skos:exactMatch UMLS:C1428348 Unspecified BMF +OMIM:606266 skos:exactMatch HGNC_symbol:BMF Unspecified BMF +OMIM:606263 skos:exactMatch UMLS:C1853473 Unspecified paget disease of bone 4 +OMIM:606264 skos:exactMatch HGNC:14558 Unspecified CLEC7A +OMIM:606264 skos:exactMatch UMLS:C1539102 Unspecified CLEC7A +OMIM:606264 skos:exactMatch HGNC_symbol:CLEC7A Unspecified CLEC7A +OMIM:606269 skos:exactMatch HGNC:17755 Unspecified TNFRSF13C +OMIM:606269 skos:exactMatch UMLS:C1425064 Unspecified TNFRSF13C +OMIM:606269 skos:exactMatch HGNC_symbol:TNFRSF13C Unspecified TNFRSF13C +OMIM:606267 skos:exactMatch UMLS:C1424139 Unspecified WNT16 +OMIM:606267 skos:exactMatch HGNC_symbol:WNT16 Unspecified WNT16 +OMIM:606267 skos:exactMatch HGNC:16267 Unspecified WNT16 +OMIM:606268 skos:exactMatch UMLS:C1835492 Unspecified WNT10A +OMIM:606268 skos:exactMatch UMLS:C0796093 Unspecified WNT10A +OMIM:606268 skos:exactMatch UMLS:C1857069 Unspecified WNT10A +OMIM:606268 skos:exactMatch HGNC:13829 Unspecified WNT10A +OMIM:606268 skos:exactMatch UMLS:C1422222 Unspecified WNT10A +OMIM:606268 skos:exactMatch HGNC_symbol:WNT10A Unspecified WNT10A +OMIM:606249 skos:exactMatch HGNC_symbol:WNK2 Unspecified WNK2 +OMIM:606249 skos:exactMatch HGNC:14542 Unspecified WNK2 +OMIM:606249 skos:exactMatch UMLS:C1538111 Unspecified WNK2 +OMIM:165500 skos:exactMatch ORPHA:98673 Unspecified optic atrophy 1 +OMIM:165500 skos:exactMatch UMLS:C0338508 Unspecified optic atrophy 1 +OMIM:618230 skos:exactMatch UMLS:C4748766 Unspecified mitochondrial complex 1 deficiency, nuclear iia 8 +OMIM:618232 skos:exactMatch UMLS:C4748767 Unspecified mitochondrial complex 1 deficiency, nuclear iia 9 +OMIM:248310 skos:exactMatch UMLS:C1855456 Unspecified plasmodium falciparum blood infection level +OMIM:618231 skos:exactMatch ORPHA:302 Unspecified epidermodysplasia verruciformis, susceptibility to, 2 +OMIM:618231 skos:exactMatch UMLS:C4722258 Unspecified epidermodysplasia verruciformis, susceptibility to, 2 +OMIM:618234 skos:exactMatch UMLS:C4748769 Unspecified mitochondrial complex 1 deficiency, nuclear iia 11 +OMIM:618233 skos:exactMatch UMLS:C4748768 Unspecified mitochondrial complex 1 deficiency, nuclear iia 10 +OMIM:618236 skos:exactMatch UMLS:C4748777 Unspecified mitochondrial complex 1 deficiency, nuclear iia 14 +OMIM:618235 skos:exactMatch UMLS:C4748770 Unspecified mitochondrial complex 1 deficiency, nuclear iia 13 +OMIM:618235 skos:exactMatch ORPHA:255241 Unspecified mitochondrial complex 1 deficiency, nuclear iia 13 +OMIM:618238 skos:exactMatch UMLS:C4748785 Unspecified mitochondrial complex 1 deficiency, nuclear iia 16 +OMIM:618237 skos:exactMatch UMLS:C4748778 Unspecified mitochondrial complex 1 deficiency, nuclear iia 15 +OMIM:618229 skos:exactMatch UMLS:C4748760 Unspecified mitochondrial complex 1 deficiency, nuclear iia 7 +OMIM:618228 skos:exactMatch UMLS:C4748759 Unspecified mitochondrial complex 1 deficiency, nuclear iia 6 +OMIM:606250 skos:exactMatch UMLS:C1414958 Unspecified GALNT8 +OMIM:606250 skos:exactMatch HGNC:4130 Unspecified GALNT8 +OMIM:606250 skos:exactMatch HGNC_symbol:GALNT8 Unspecified GALNT8 +OMIM:606251 skos:exactMatch UMLS:C1414959 Unspecified GALNT9 +OMIM:606251 skos:exactMatch HGNC_symbol:GALNT9 Unspecified GALNT9 +OMIM:606251 skos:exactMatch HGNC:4131 Unspecified GALNT9 +OMIM:606254 skos:exactMatch UMLS:C1853479 Unspecified SELENOF +OMIM:606254 skos:exactMatch HGNC:17705 Unspecified SELENOF +OMIM:606254 skos:exactMatch HGNC_symbol:SELENOF Unspecified SELENOF +OMIM:606255 skos:exactMatch UMLS:C1853478 Unspecified stature as a quantitative trait +OMIM:606255 skos:exactMatch UMLS:C1853477 Unspecified stature as a quantitative trait +OMIM:606252 skos:exactMatch UMLS:C2720293 Unspecified TIRAP +OMIM:606252 skos:exactMatch HGNC_symbol:TIRAP Unspecified TIRAP +OMIM:606252 skos:exactMatch UMLS:C3280646 Unspecified TIRAP +OMIM:606252 skos:exactMatch UMLS:C1970686 Unspecified TIRAP +OMIM:606252 skos:exactMatch UMLS:C1424810 Unspecified TIRAP +OMIM:606252 skos:exactMatch HGNC:17192 Unspecified TIRAP +OMIM:606252 skos:exactMatch UMLS:C1969665 Unspecified TIRAP +OMIM:606258 skos:exactMatch UMLS:C1853474 Unspecified stature quantitative trait locus 4 +OMIM:606259 skos:exactMatch HGNC:17262 Unspecified BRMS1 +OMIM:606259 skos:exactMatch HGNC_symbol:BRMS1 Unspecified BRMS1 +OMIM:606259 skos:exactMatch UMLS:C1332450 Unspecified BRMS1 +OMIM:606256 skos:exactMatch UMLS:C1853476 Unspecified stature quantitative trait locus 2 +OMIM:606257 skos:exactMatch UMLS:C1853475 Unspecified stature quantitative trait locus 3 +OMIM:189500 skos:exactMatch UMLS:C0406735 Unspecified witkop syndrome +OMIM:309845 skos:exactMatch UMLS:C1417371 Unspecified MSN +OMIM:309845 skos:exactMatch HGNC:7373 Unspecified MSN +OMIM:309845 skos:exactMatch HGNC_symbol:MSN Unspecified MSN +OMIM:238950 skos:exactMatch UMLS:C1855925 Unspecified hyperopia, high +OMIM:309850 skos:exactMatch HGNC:6833 Unspecified MAOA +OMIM:309850 skos:exactMatch UMLS:C1417001 Unspecified MAOA +OMIM:309850 skos:exactMatch HGNC_symbol:MAOA Unspecified MAOA +OMIM:214980 skos:exactMatch UMLS:C1859161 Unspecified cholestasis with gallstone, ataxia, and visual disturbance +OMIM:275900 skos:exactMatch UMLS:C0393559 Unspecified spastic paraplegia 20, autosomal recessive +OMIM:618290 skos:exactMatch UMLS:C1823850 Unspecified WDR90 +OMIM:618290 skos:exactMatch HGNC:26960 Unspecified WDR90 +OMIM:618290 skos:exactMatch HGNC_symbol:WDR90 Unspecified WDR90 +OMIM:618292 skos:exactMatch UMLS:C4749014 Unspecified neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +OMIM:618292 skos:exactMatch ORPHA:528084 Unspecified neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +OMIM:251945 skos:exactMatch UMLS:C1855034 Unspecified mitochondrial myopathy with a defect 1n mitochondrial-protein transport +OMIM:618291 skos:exactMatch UMLS:C4749003 Unspecified spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant +OMIM:618294 skos:exactMatch UMLS:C1823353 Unspecified TMEM91 +OMIM:618294 skos:exactMatch HGNC:32393 Unspecified TMEM91 +OMIM:618294 skos:exactMatch HGNC_symbol:TMEM91 Unspecified TMEM91 +OMIM:190500 skos:exactMatch UMLS:C1860807 Unspecified triphalangeal thumb with double phalanges +OMIM:618293 skos:exactMatch UMLS:C3147645 Unspecified IFITM10 +OMIM:618293 skos:exactMatch HGNC_symbol:IFITM10 Unspecified IFITM10 +OMIM:618293 skos:exactMatch HGNC:40022 Unspecified IFITM10 +OMIM:618296 skos:exactMatch UMLS:C2828879 Unspecified TMEM233 +OMIM:618296 skos:exactMatch HGNC_symbol:TMEM233 Unspecified TMEM233 +OMIM:618296 skos:exactMatch HGNC:37219 Unspecified TMEM233 +OMIM:618295 skos:exactMatch UMLS:C4749019 Unspecified intellectual developmental disorder, autosomal recessive 67 +OMIM:618298 skos:exactMatch UMLS:C4749023 Unspecified developmental and epileptic encephalopathy 70 +OMIM:618298 skos:exactMatch ORPHA:3451 Unspecified developmental and epileptic encephalopathy 70 +OMIM:226960 skos:exactMatch UMLS:C0796021 Unspecified lowry-wood syndrome +OMIM:226960 skos:exactMatch ORPHA:1824 Unspecified lowry-wood syndrome +OMIM:618297 skos:exactMatch HGNC:13943 Unspecified PRRT1 +OMIM:618297 skos:exactMatch UMLS:C1826723 Unspecified PRRT1 +OMIM:618297 skos:exactMatch HGNC_symbol:PRRT1 Unspecified PRRT1 +OMIM:618299 skos:exactMatch HGNC_symbol:LRP12 Unspecified LRP12 +OMIM:618299 skos:exactMatch UMLS:C1420445 Unspecified LRP12 +OMIM:618299 skos:exactMatch HGNC:31708 Unspecified LRP12 +OMIM:200350 skos:exactMatch UMLS:C1412104 Unspecified ACACA +OMIM:200350 skos:exactMatch HGNC_symbol:ACACA Unspecified ACACA +OMIM:200350 skos:exactMatch HGNC:84 Unspecified ACACA +OMIM:224300 skos:exactMatch UMLS:C0432262 Unspecified dysosteosclerosis +OMIM:307200 skos:exactMatch UMLS:C0472813 Unspecified isolated growth hormone deficiency, iia iii, with agammaglobulinemia +OMIM:153550 skos:exactMatch UMLS:C0740302 Unspecified chromosome 5q deletion syndrome +OMIM:153550 skos:exactMatch UMLS:C1835193 Unspecified chromosome 5q deletion syndrome +OMIM:309860 skos:exactMatch HGNC:6834 Unspecified MAOB +OMIM:309860 skos:exactMatch UMLS:C1417002 Unspecified MAOB +OMIM:309860 skos:exactMatch HGNC_symbol:MAOB Unspecified MAOB +OMIM:618281 skos:exactMatch HGNC:24709 Unspecified VWA2 +OMIM:618281 skos:exactMatch UMLS:C1823653 Unspecified VWA2 +OMIM:618281 skos:exactMatch HGNC_symbol:VWA2 Unspecified VWA2 +OMIM:618280 skos:exactMatch UMLS:C4748946 Unspecified cardiac-urogenital syndrome +OMIM:618283 skos:exactMatch UMLS:C4748978 Unspecified visual impairment and progressive phthisis bulbi +OMIM:618282 skos:exactMatch UMLS:C4748969 Unspecified hyper-ige recurrent infection syndrome 3, autosomal recessive +OMIM:618285 skos:exactMatch UMLS:C4748988 Unspecified developmental and epileptic encephalopathy 69 +OMIM:618284 skos:exactMatch UMLS:C4748984 Unspecified microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum +OMIM:618287 skos:exactMatch UMLS:C4748997 Unspecified mucocutaneous ulceration, chronic +OMIM:618286 skos:exactMatch UMLS:C4748993 Unspecified macrocephaly, acquired, with impaired intellectual development +OMIM:618289 skos:exactMatch UMLS:C1419900 Unspecified ENTR1 +OMIM:618289 skos:exactMatch HGNC:10667 Unspecified ENTR1 +OMIM:618289 skos:exactMatch HGNC_symbol:ENTR1 Unspecified ENTR1 +OMIM:165550 skos:exactMatch UMLS:C1833798 Unspecified optic nerve hypoplasia, bilateral +OMIM:165550 skos:exactMatch UMLS:C1833797 Unspecified optic nerve hypoplasia, bilateral +OMIM:618288 skos:exactMatch HGNC_symbol:HMCES Unspecified HMCES +OMIM:618288 skos:exactMatch HGNC:24446 Unspecified HMCES +OMIM:618288 skos:exactMatch UMLS:C1824133 Unspecified HMCES +OMIM:238970 skos:exactMatch ORPHA:415 Unspecified hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +OMIM:238970 skos:exactMatch UMLS:C0268540 Unspecified hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +OMIM:618270 skos:exactMatch UMLS:C4748921 Unspecified congenital anomalies of kidney and urinary tract 3 +OMIM:618272 skos:exactMatch UMLS:C4748924 Unspecified global developmental delay, lung cysts, overgrowth, and wilms tumor +OMIM:212360 skos:exactMatch UMLS:C1859316 Unspecified palmoplantar keratoderma and congenital alopecia 2 +OMIM:618271 skos:exactMatch HGNC:17702 Unspecified SEC61A2 +OMIM:618271 skos:exactMatch UMLS:C1425043 Unspecified SEC61A2 +OMIM:618271 skos:exactMatch HGNC_symbol:SEC61A2 Unspecified SEC61A2 +OMIM:618274 skos:exactMatch UMLS:C1826669 Unspecified PPWD1 +OMIM:618274 skos:exactMatch HGNC:28954 Unspecified PPWD1 +OMIM:618274 skos:exactMatch HGNC_symbol:PPWD1 Unspecified PPWD1 +OMIM:618273 skos:exactMatch UMLS:C4748927 Unspecified mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +OMIM:618276 skos:exactMatch UMLS:C4748934 Unspecified neurodegeneration, childhood-onset, with cerebellar atrophy +OMIM:618275 skos:exactMatch ORPHA:55654 Unspecified hypotrichosis 14 +OMIM:618275 skos:exactMatch UMLS:C4748930 Unspecified hypotrichosis 14 +OMIM:618278 skos:exactMatch UMLS:C4748939 Unspecified fibrosis, neurodegeneration, and cerebral angiomatosis +OMIM:226980 skos:exactMatch UMLS:C0432217 Unspecified epiphyseal dysplasia, multiple, with early-onset diabetes mellitus +OMIM:618277 skos:exactMatch UMLS:C1538059 Unspecified NHLRC2 +OMIM:618277 skos:exactMatch HGNC_symbol:NHLRC2 Unspecified NHLRC2 +OMIM:618277 skos:exactMatch HGNC:24731 Unspecified NHLRC2 +OMIM:618279 skos:exactMatch UMLS:C4748940 Unspecified charcot-marie-tooth disease, demyelinating, iia 1g +OMIM:226985 skos:exactMatch UMLS:C1856902 Unspecified epithelial squamous dysplasia, keratinizing desquamative, of urinary tract +OMIM:606290 skos:exactMatch UMLS:C1418350 Unspecified PCDHGA3 +OMIM:606290 skos:exactMatch HGNC_symbol:PCDHGA3 Unspecified PCDHGA3 +OMIM:606290 skos:exactMatch HGNC:8701 Unspecified PCDHGA3 +OMIM:606291 skos:exactMatch UMLS:C1418351 Unspecified PCDHGA4 +OMIM:606291 skos:exactMatch HGNC_symbol:PCDHGA4 Unspecified PCDHGA4 +OMIM:606291 skos:exactMatch HGNC:8702 Unspecified PCDHGA4 +OMIM:606294 skos:exactMatch UMLS:C1418354 Unspecified PCDHGA7 +OMIM:606294 skos:exactMatch HGNC_symbol:PCDHGA7 Unspecified PCDHGA7 +OMIM:606294 skos:exactMatch HGNC:8705 Unspecified PCDHGA7 +OMIM:226990 skos:exactMatch UMLS:C4016741 Unspecified immunodeficiency 32b +OMIM:606295 skos:exactMatch UMLS:C1418355 Unspecified PCDHGA8 +OMIM:606295 skos:exactMatch HGNC_symbol:PCDHGA8 Unspecified PCDHGA8 +OMIM:606295 skos:exactMatch HGNC:8706 Unspecified PCDHGA8 +OMIM:606292 skos:exactMatch UMLS:C1418352 Unspecified PCDHGA5 +OMIM:606292 skos:exactMatch HGNC_symbol:PCDHGA5 Unspecified PCDHGA5 +OMIM:606292 skos:exactMatch HGNC:8703 Unspecified PCDHGA5 +OMIM:606293 skos:exactMatch UMLS:C1418353 Unspecified PCDHGA6 +OMIM:606293 skos:exactMatch HGNC_symbol:PCDHGA6 Unspecified PCDHGA6 +OMIM:606293 skos:exactMatch HGNC:8704 Unspecified PCDHGA6 +OMIM:309840 skos:exactMatch UMLS:C1839708 Unspecified modifier, x-linked, for neurofunctional defects +OMIM:606298 skos:exactMatch UMLS:C1418347 Unspecified PCDHGA11 +OMIM:606298 skos:exactMatch HGNC_symbol:PCDHGA11 Unspecified PCDHGA11 +OMIM:606298 skos:exactMatch HGNC:8698 Unspecified PCDHGA11 +OMIM:606299 skos:exactMatch UMLS:C1418357 Unspecified PCDHGB1 +OMIM:606299 skos:exactMatch HGNC_symbol:PCDHGB1 Unspecified PCDHGB1 +OMIM:606299 skos:exactMatch HGNC:8708 Unspecified PCDHGB1 +OMIM:606296 skos:exactMatch UMLS:C1418356 Unspecified PCDHGA9 +OMIM:606296 skos:exactMatch HGNC_symbol:PCDHGA9 Unspecified PCDHGA9 +OMIM:606296 skos:exactMatch HGNC:8707 Unspecified PCDHGA9 +OMIM:236300 skos:exactMatch UMLS:C0268479 Unspecified hooft disease +OMIM:212350 skos:exactMatch UMLS:C1859317 Unspecified sengers syndrome +OMIM:606297 skos:exactMatch UMLS:C1418346 Unspecified PCDHGA10 +OMIM:606297 skos:exactMatch HGNC_symbol:PCDHGA10 Unspecified PCDHGA10 +OMIM:606297 skos:exactMatch HGNC:8697 Unspecified PCDHGA10 +OMIM:190410 skos:exactMatch UMLS:C0410060 Unspecified trigger thumb +OMIM:200300 skos:exactMatch UMLS:C1860214 Unspecified acetophenetidin sensitivity +OMIM:251900 skos:exactMatch UMLS:C5193007 Unspecified mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy +OMIM:214950 skos:exactMatch UMLS:C1858328 Unspecified bile acid synthesis defect, congenital, 4 +OMIM:190420 skos:exactMatch UMLS:C1860821 Unspecified triglyceride storage disease, iia 1 +OMIM:153470 skos:exactMatch UMLS:C0220690 Unspecified macrocephaly, benign familial +OMIM:226950 skos:exactMatch UMLS:C1856918 Unspecified epiphyseal dysplasia of femoral head, myopia, and deafness +OMIM:618191 skos:exactMatch UMLS:C1824697 Unspecified CEACAM21 +OMIM:618191 skos:exactMatch HGNC:28834 Unspecified CEACAM21 +OMIM:618191 skos:exactMatch HGNC_symbol:CEACAM21 Unspecified CEACAM21 +OMIM:618190 skos:exactMatch HGNC_symbol:LUCAT1 Unspecified LUCAT1 +OMIM:618190 skos:exactMatch UMLS:C3816760 Unspecified LUCAT1 +OMIM:618190 skos:exactMatch HGNC:48498 Unspecified LUCAT1 +OMIM:618193 skos:exactMatch UMLS:C4748657 Unspecified polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +OMIM:618193 skos:exactMatch ORPHA:2770 Unspecified polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +OMIM:618192 skos:exactMatch UMLS:C3812533 Unspecified PCAT19 +OMIM:618192 skos:exactMatch HGNC_symbol:PCAT19 Unspecified PCAT19 +OMIM:618192 skos:exactMatch HGNC:49593 Unspecified PCAT19 +OMIM:618195 skos:exactMatch UMLS:C4748658 Unspecified intellectual developmental disorder and retinitis pigmentosa +OMIM:618194 skos:exactMatch HGNC_symbol:SSC5D Unspecified SSC5D +OMIM:618194 skos:exactMatch HGNC:26641 Unspecified SSC5D +OMIM:618194 skos:exactMatch UMLS:C3146566 Unspecified SSC5D +OMIM:618197 skos:exactMatch UMLS:C4748678 Unspecified myasthenic syndrome, congenital, 23, presynaptic +OMIM:618197 skos:exactMatch ORPHA:98914 Unspecified myasthenic syndrome, congenital, 23, presynaptic +OMIM:190400 skos:exactMatch UMLS:C0040997 Unspecified trigeminal neuralgia +OMIM:618196 skos:exactMatch UMLS:C4748670 Unspecified capillary malformation-arteriovenous malformation 2 +OMIM:618199 skos:exactMatch HGNC:24086 Unspecified A1CF +OMIM:618199 skos:exactMatch UMLS:C2240226 Unspecified A1CF +OMIM:618199 skos:exactMatch HGNC_symbol:A1CF Unspecified A1CF +OMIM:618198 skos:exactMatch UMLS:C4748684 Unspecified myasthenic syndrome, congenital, 24, presynaptic +OMIM:403000 skos:exactMatch HGNC:10992 Unspecified SLC25A6 +OMIM:403000 skos:exactMatch UMLS:C1335835 Unspecified SLC25A6 +OMIM:403000 skos:exactMatch HGNC_symbol:SLC25A6 Unspecified SLC25A6 +OMIM:214900 skos:exactMatch UMLS:C0268314 Unspecified cholestasis-lymphedema syndrome +OMIM:190450 skos:exactMatch UMLS:C1420871 Unspecified TPI1 +OMIM:190450 skos:exactMatch HGNC_symbol:TPI1 Unspecified TPI1 +OMIM:190450 skos:exactMatch HGNC:12009 Unspecified TPI1 +OMIM:190430 skos:exactMatch UMLS:C1860820 Unspecified triglyceride storage disease, iia 2 +OMIM:226900 skos:exactMatch UMLS:C1847593 Unspecified epiphyseal dysplasia, multiple, 4 +OMIM:190445 skos:exactMatch UMLS:C1860815 Unspecified triiodothyronine receptor auxiliary protein +OMIM:190440 skos:exactMatch UMLS:C0432122 Unspecified trigonocephaly 1 +OMIM:202900 skos:exactMatch UMLS:C1859965 Unspecified alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus +OMIM:189490 skos:exactMatch UMLS:C2752157 Unspecified malposition of teeth with or without hypodontia/oligodontia +OMIM:190470 skos:exactMatch UMLS:C1420876 Unspecified TPP2 +OMIM:190470 skos:exactMatch HGNC_symbol:TPP2 Unspecified TPP2 +OMIM:190470 skos:exactMatch HGNC:12016 Unspecified TPP2 +OMIM:104570 skos:exactMatch UMLS:C1863006 Unspecified ameloonychohypohidrotic syndrome +OMIM:608815 skos:exactMatch HGNC:16406 Unspecified EFHC1 +OMIM:608815 skos:exactMatch UMLS:C1424254 Unspecified EFHC1 +OMIM:608815 skos:exactMatch HGNC_symbol:EFHC1 Unspecified EFHC1 +OMIM:608814 skos:exactMatch UMLS:C1837314 Unspecified lateral semicircular canal malformation, familial, with external and middle ear abnormalities +OMIM:608813 skos:exactMatch HGNC:28454 Unspecified DERL1 +OMIM:608813 skos:exactMatch UMLS:C1539270 Unspecified DERL1 +OMIM:608813 skos:exactMatch HGNC_symbol:DERL1 Unspecified DERL1 +OMIM:608812 skos:exactMatch UMLS:C1837315 Unspecified colorectal cancer, susceptibility to, 1 +OMIM:608819 skos:exactMatch UMLS:C1837306 Unspecified KRTAP1-1 +OMIM:608819 skos:exactMatch HGNC_symbol:KRTAP1-1 Unspecified KRTAP1-1 +OMIM:608819 skos:exactMatch HGNC:16772 Unspecified KRTAP1-1 +OMIM:608819 skos:exactMatch UMLS:C1424532 Unspecified KRTAP1-1 +OMIM:608818 skos:exactMatch UMLS:C1428031 Unspecified NTNG1 +OMIM:608818 skos:exactMatch HGNC_symbol:NTNG1 Unspecified NTNG1 +OMIM:608818 skos:exactMatch HGNC:23319 Unspecified NTNG1 +OMIM:608817 skos:exactMatch HGNC:29317 Unspecified LRRC4C +OMIM:608817 skos:exactMatch UMLS:C1825875 Unspecified LRRC4C +OMIM:608817 skos:exactMatch HGNC_symbol:LRRC4C Unspecified LRRC4C +OMIM:608816 skos:exactMatch UMLS:C1837308 Unspecified myoclonic epilepsy, juvenile, susceptibility to, 3 +OMIM:128500 skos:exactMatch UMLS:C1851901 Unspecified ear folding +OMIM:104530 skos:exactMatch UMLS:C4011403 Unspecified amelogenesis imperfecta, iia 1a +OMIM:608822 skos:exactMatch HGNC:16777 Unspecified KRTAP1-5 +OMIM:608822 skos:exactMatch HGNC_symbol:KRTAP1-5 Unspecified KRTAP1-5 +OMIM:608822 skos:exactMatch UMLS:C1424537 Unspecified KRTAP1-5 +OMIM:608821 skos:exactMatch HGNC_symbol:KRTAP1-4 Unspecified KRTAP1-4 +OMIM:608821 skos:exactMatch UMLS:C1425872 Unspecified KRTAP1-4 +OMIM:608821 skos:exactMatch HGNC:18904 Unspecified KRTAP1-4 +OMIM:608820 skos:exactMatch UMLS:C1424531 Unspecified KRTAP1-3 +OMIM:608820 skos:exactMatch UMLS:C1837301 Unspecified KRTAP1-3 +OMIM:608820 skos:exactMatch HGNC_symbol:KRTAP1-3 Unspecified KRTAP1-3 +OMIM:608820 skos:exactMatch HGNC:16771 Unspecified KRTAP1-3 +OMIM:608804 skos:exactMatch UMLS:C1837355 Unspecified leukodystrophy, hypomyelinating, 2 +OMIM:608803 skos:exactMatch HGNC:17494 Unspecified GJC2 +OMIM:608803 skos:exactMatch UMLS:C1424981 Unspecified GJC2 +OMIM:608803 skos:exactMatch HGNC_symbol:GJC2 Unspecified GJC2 +OMIM:608802 skos:exactMatch HGNC:15905 Unspecified L3MBTL1 +OMIM:608802 skos:exactMatch HGNC_symbol:L3MBTL1 Unspecified L3MBTL1 +OMIM:608802 skos:exactMatch UMLS:C1423822 Unspecified L3MBTL1 +OMIM:608801 skos:exactMatch HGNC_symbol:GCDH Unspecified GCDH +OMIM:608801 skos:exactMatch HGNC:4189 Unspecified GCDH +OMIM:608801 skos:exactMatch UMLS:C1415009 Unspecified GCDH +OMIM:608808 skos:exactMatch UMLS:C1837341 Unspecified transposition of the great arteries, dextro-looped +OMIM:608807 skos:exactMatch UMLS:C1837342 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 10 +OMIM:608806 skos:exactMatch HGNC_symbol:NAALADL2 Unspecified NAALADL2 +OMIM:608806 skos:exactMatch HGNC:23219 Unspecified NAALADL2 +OMIM:608806 skos:exactMatch UMLS:C1826340 Unspecified NAALADL2 +OMIM:608805 skos:exactMatch UMLS:C4551562 Unspecified avascular necrosis of femoral head, primary, 1 +OMIM:608805 skos:exactMatch UMLS:C0410480 Unspecified avascular necrosis of femoral head, primary, 1 +OMIM:608809 skos:exactMatch UMLS:C1837329 Unspecified leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema +OMIM:608811 skos:exactMatch UMLS:C1837316 Unspecified metaphyseal undermodeling, spondylar dysplasia, and overgrowth +OMIM:608810 skos:exactMatch ORPHA:399058 Unspecified myopathy, myofibrillar, 2 +OMIM:608810 skos:exactMatch UMLS:C1837317 Unspecified myopathy, myofibrillar, 2 +OMIM:415000 skos:exactMatch UMLS:C1839072 Unspecified spermatogenic failure, y-linked, 2 +OMIM:415000 skos:exactMatch UMLS:C1839071 Unspecified spermatogenic failure, y-linked, 2 +OMIM:608800 skos:exactMatch UMLS:C1837371 Unspecified sudden infant death with dysgenesis of the testes syndrome +OMIM:104510 skos:exactMatch UMLS:C1863012 Unspecified amelogenesis imperfecta, iia 4 +OMIM:273250 skos:exactMatch UMLS:C0266427 Unspecified 46,xy sex reversal 11 +OMIM:273250 skos:exactMatch ORPHA:983 Unspecified 46,xy sex reversal 11 +OMIM:606317 skos:exactMatch HGNC:8665 Unspecified PCDHA11 +OMIM:606317 skos:exactMatch UMLS:C1418314 Unspecified PCDHA11 +OMIM:606317 skos:exactMatch HGNC_symbol:PCDHA11 Unspecified PCDHA11 +OMIM:608979 skos:exactMatch HGNC:26506 Unspecified PPM1M +OMIM:608979 skos:exactMatch UMLS:C1538711 Unspecified PPM1M +OMIM:608979 skos:exactMatch HGNC_symbol:PPM1M Unspecified PPM1M +OMIM:606318 skos:exactMatch HGNC:8666 Unspecified PCDHA12 +OMIM:606318 skos:exactMatch UMLS:C1418315 Unspecified PCDHA12 +OMIM:606318 skos:exactMatch HGNC_symbol:PCDHA12 Unspecified PCDHA12 +OMIM:608978 skos:exactMatch UMLS:C1837026 Unspecified meacham syndrome +OMIM:606315 skos:exactMatch HGNC:8675 Unspecified PCDHA9 +OMIM:606315 skos:exactMatch HGNC_symbol:PCDHA9 Unspecified PCDHA9 +OMIM:606315 skos:exactMatch UMLS:C1418324 Unspecified PCDHA9 +OMIM:608977 skos:exactMatch HGNC:30528 Unspecified DNAJC19 +OMIM:608977 skos:exactMatch UMLS:C1824950 Unspecified DNAJC19 +OMIM:608977 skos:exactMatch HGNC_symbol:DNAJC19 Unspecified DNAJC19 +OMIM:606316 skos:exactMatch HGNC:8664 Unspecified PCDHA10 +OMIM:606316 skos:exactMatch UMLS:C1418313 Unspecified PCDHA10 +OMIM:606316 skos:exactMatch HGNC_symbol:PCDHA10 Unspecified PCDHA10 +OMIM:606319 skos:exactMatch HGNC:8667 Unspecified PCDHA13 +OMIM:606319 skos:exactMatch UMLS:C1418316 Unspecified PCDHA13 +OMIM:606319 skos:exactMatch HGNC_symbol:PCDHA13 Unspecified PCDHA13 +OMIM:618300 skos:exactMatch UMLS:C4749028 Unspecified ciliary dyskinesia, primary, 40 +OMIM:618302 skos:exactMatch UMLS:C4749033 Unspecified intellectual developmental disorder, autosomal recessive 68 +OMIM:116600 skos:exactMatch UMLS:C1861825 Unspecified cataract 6, multiple types +OMIM:618301 skos:exactMatch UMLS:C3147684 Unspecified KAZN +OMIM:618301 skos:exactMatch HGNC:29173 Unspecified KAZN +OMIM:618301 skos:exactMatch HGNC_symbol:KAZN Unspecified KAZN +OMIM:618304 skos:exactMatch HGNC:25326 Unspecified QRICH2 +OMIM:618304 skos:exactMatch HGNC_symbol:QRICH2 Unspecified QRICH2 +OMIM:618304 skos:exactMatch UMLS:C5193038 Unspecified QRICH2 +OMIM:618304 skos:exactMatch UMLS:C1826749 Unspecified QRICH2 +OMIM:618303 skos:exactMatch HGNC_symbol:CAVIN3 Unspecified CAVIN3 +OMIM:618303 skos:exactMatch UMLS:C1418917 Unspecified CAVIN3 +OMIM:618303 skos:exactMatch HGNC:9400 Unspecified CAVIN3 +OMIM:104614 skos:exactMatch HGNC:11025 Unspecified SLC3A1 +OMIM:104614 skos:exactMatch UMLS:C1420191 Unspecified SLC3A1 +OMIM:104614 skos:exactMatch HGNC_symbol:SLC3A1 Unspecified SLC3A1 +OMIM:104613 skos:exactMatch HGNC_symbol:CCT6A Unspecified CCT6A +OMIM:104613 skos:exactMatch HGNC:1620 Unspecified CCT6A +OMIM:104613 skos:exactMatch UMLS:C1413198 Unspecified CCT6A +OMIM:104615 skos:exactMatch HGNC:11057 Unspecified SLC7A1 +OMIM:104615 skos:exactMatch HGNC_symbol:SLC7A1 Unspecified SLC7A1 +OMIM:104615 skos:exactMatch UMLS:C1442751 Unspecified SLC7A1 +OMIM:606320 skos:exactMatch UMLS:C1418325 Unspecified PCDHAC1 +OMIM:606320 skos:exactMatch HGNC_symbol:PCDHAC1 Unspecified PCDHAC1 +OMIM:606320 skos:exactMatch HGNC:8676 Unspecified PCDHAC1 +OMIM:608982 skos:exactMatch UMLS:C1837024 Unspecified stature quantitative trait locus 5 +OMIM:606321 skos:exactMatch UMLS:C1418326 Unspecified PCDHAC2 +OMIM:606321 skos:exactMatch HGNC_symbol:PCDHAC2 Unspecified PCDHAC2 +OMIM:606321 skos:exactMatch HGNC:8677 Unspecified PCDHAC2 +OMIM:608981 skos:exactMatch HGNC:18123 Unspecified ACVR1C +OMIM:608981 skos:exactMatch HGNC_symbol:ACVR1C Unspecified ACVR1C +OMIM:608981 skos:exactMatch UMLS:C1425329 Unspecified ACVR1C +OMIM:608980 skos:exactMatch UMLS:C2750433 Unspecified bifid nose with or without anorectal and renal anomalies +OMIM:608987 skos:exactMatch UMLS:C1538561 Unspecified P4HA3 +OMIM:608987 skos:exactMatch HGNC_symbol:P4HA3 Unspecified P4HA3 +OMIM:608987 skos:exactMatch HGNC:30135 Unspecified P4HA3 +OMIM:104610 skos:exactMatch HGNC:80 Unspecified ABP1 +OMIM:104610 skos:exactMatch UMLS:C1412100 Unspecified ABP1 +OMIM:104610 skos:exactMatch HGNC_symbol:AOC1 Unspecified ABP1 +OMIM:606324 skos:exactMatch UMLS:C1853445 Unspecified parkinson disease 7, autosomal recessive early-onset +OMIM:606325 skos:exactMatch UMLS:C1853444 Unspecified heterotaxy, visceral, 3, autosomal +OMIM:608986 skos:exactMatch HGNC_symbol:CRTC3 Unspecified CRTC3 +OMIM:608986 skos:exactMatch UMLS:C1824800 Unspecified CRTC3 +OMIM:608986 skos:exactMatch HGNC:26148 Unspecified CRTC3 +OMIM:606322 skos:exactMatch HGNC:13759 Unspecified CYFIP1 +OMIM:606322 skos:exactMatch UMLS:C1422186 Unspecified CYFIP1 +OMIM:606322 skos:exactMatch HGNC_symbol:CYFIP1 Unspecified CYFIP1 +OMIM:608985 skos:exactMatch HGNC_symbol:RNF2 Unspecified RNF2 +OMIM:608985 skos:exactMatch UMLS:C1419419 Unspecified RNF2 +OMIM:608985 skos:exactMatch HGNC:10061 Unspecified RNF2 +OMIM:606323 skos:exactMatch HGNC:13760 Unspecified CYFIP2 +OMIM:606323 skos:exactMatch UMLS:C1422187 Unspecified CYFIP2 +OMIM:606323 skos:exactMatch UMLS:C4693925 Unspecified CYFIP2 +OMIM:606323 skos:exactMatch HGNC_symbol:CYFIP2 Unspecified CYFIP2 +OMIM:608984 skos:exactMatch UMLS:C1837015 Unspecified ataxia, sensory, 1, autosomal dominant +OMIM:606306 skos:exactMatch HGNC_symbol:PCDHGC5 Unspecified PCDHGC5 +OMIM:606306 skos:exactMatch HGNC:8718 Unspecified PCDHGC5 +OMIM:606306 skos:exactMatch UMLS:C1418367 Unspecified PCDHGC5 +OMIM:608969 skos:exactMatch HGNC_symbol:UTP14C Unspecified UTP14C +OMIM:608969 skos:exactMatch UMLS:C1540169 Unspecified UTP14C +OMIM:608969 skos:exactMatch HGNC:20321 Unspecified UTP14C +OMIM:608968 skos:exactMatch HGNC:6408 Unspecified MAFB +OMIM:608968 skos:exactMatch UMLS:C4310874 Unspecified MAFB +OMIM:608968 skos:exactMatch UMLS:C4310873 Unspecified MAFB +OMIM:608968 skos:exactMatch HGNC_symbol:MAFB Unspecified MAFB +OMIM:608968 skos:exactMatch UMLS:C2674705 Unspecified MAFB +OMIM:608968 skos:exactMatch UMLS:C1416710 Unspecified MAFB +OMIM:606307 skos:exactMatch HGNC:8663 Unspecified PCDHA1 +OMIM:606307 skos:exactMatch HGNC_symbol:PCDHA1 Unspecified PCDHA1 +OMIM:606307 skos:exactMatch UMLS:C1418312 Unspecified PCDHA1 +OMIM:606304 skos:exactMatch HGNC:8714 Unspecified PCDHGB7 +OMIM:606304 skos:exactMatch UMLS:C1418363 Unspecified PCDHGB7 +OMIM:606304 skos:exactMatch HGNC_symbol:PCDHGB7 Unspecified PCDHGB7 +OMIM:608966 skos:exactMatch HGNC_symbol:DACT2 Unspecified DACT2 +OMIM:608966 skos:exactMatch HGNC:21231 Unspecified DACT2 +OMIM:608966 skos:exactMatch UMLS:C1427435 Unspecified DACT2 +OMIM:606305 skos:exactMatch HGNC_symbol:PCDHGC4 Unspecified PCDHGC4 +OMIM:606305 skos:exactMatch HGNC:8717 Unspecified PCDHGC4 +OMIM:606305 skos:exactMatch UMLS:C1418366 Unspecified PCDHGC4 +OMIM:606308 skos:exactMatch HGNC:8668 Unspecified PCDHA2 +OMIM:606308 skos:exactMatch HGNC_symbol:PCDHA2 Unspecified PCDHA2 +OMIM:606308 skos:exactMatch UMLS:C1418317 Unspecified PCDHA2 +OMIM:606309 skos:exactMatch HGNC:8669 Unspecified PCDHA3 +OMIM:606309 skos:exactMatch HGNC_symbol:PCDHA3 Unspecified PCDHA3 +OMIM:606309 skos:exactMatch UMLS:C1418318 Unspecified PCDHA3 +OMIM:608972 skos:exactMatch HGNC_symbol:CRTC2 Unspecified CRTC2 +OMIM:608972 skos:exactMatch UMLS:C1824799 Unspecified CRTC2 +OMIM:608972 skos:exactMatch HGNC:27301 Unspecified CRTC2 +OMIM:608971 skos:exactMatch UMLS:C1837028 Unspecified severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive +OMIM:606310 skos:exactMatch HGNC_symbol:PCDHA4 Unspecified PCDHA4 +OMIM:606310 skos:exactMatch UMLS:C1418319 Unspecified PCDHA4 +OMIM:606310 skos:exactMatch HGNC:8670 Unspecified PCDHA4 +OMIM:608970 skos:exactMatch UMLS:C1837029 Unspecified macular dystrophy, patterned, 2 +OMIM:606313 skos:exactMatch HGNC:8673 Unspecified PCDHA7 +OMIM:606313 skos:exactMatch HGNC_symbol:PCDHA7 Unspecified PCDHA7 +OMIM:606313 skos:exactMatch UMLS:C1418322 Unspecified PCDHA7 +OMIM:608976 skos:exactMatch UMLS:C1423959 Unspecified PARD6G +OMIM:608976 skos:exactMatch HGNC:16076 Unspecified PARD6G +OMIM:608976 skos:exactMatch HGNC_symbol:PARD6G Unspecified PARD6G +OMIM:606314 skos:exactMatch HGNC:8674 Unspecified PCDHA8 +OMIM:606314 skos:exactMatch HGNC_symbol:PCDHA8 Unspecified PCDHA8 +OMIM:606314 skos:exactMatch UMLS:C1418323 Unspecified PCDHA8 +OMIM:608975 skos:exactMatch UMLS:C1424118 Unspecified PARD6B +OMIM:608975 skos:exactMatch HGNC:16245 Unspecified PARD6B +OMIM:608975 skos:exactMatch HGNC_symbol:PARD6B Unspecified PARD6B +OMIM:104620 skos:exactMatch HGNC:177 Unspecified ACY1 +OMIM:104620 skos:exactMatch UMLS:C1412173 Unspecified ACY1 +OMIM:104620 skos:exactMatch HGNC_symbol:ACY1 Unspecified ACY1 +OMIM:608974 skos:exactMatch HGNC_symbol:C1RL Unspecified C1RL +OMIM:608974 skos:exactMatch HGNC:21265 Unspecified C1RL +OMIM:608974 skos:exactMatch UMLS:C1427465 Unspecified C1RL +OMIM:606311 skos:exactMatch HGNC_symbol:PCDHA5 Unspecified PCDHA5 +OMIM:606311 skos:exactMatch UMLS:C1418320 Unspecified PCDHA5 +OMIM:606311 skos:exactMatch HGNC:8671 Unspecified PCDHA5 +OMIM:606312 skos:exactMatch HGNC:8672 Unspecified PCDHA6 +OMIM:606312 skos:exactMatch HGNC_symbol:PCDHA6 Unspecified PCDHA6 +OMIM:606312 skos:exactMatch UMLS:C1418321 Unspecified PCDHA6 +OMIM:608973 skos:exactMatch UMLS:C1539799 Unspecified SIK2 +OMIM:608973 skos:exactMatch HGNC:21680 Unspecified SIK2 +OMIM:608973 skos:exactMatch HGNC_symbol:SIK2 Unspecified SIK2 +OMIM:608958 skos:exactMatch UMLS:C1412179 Unspecified ADA +OMIM:608958 skos:exactMatch HGNC:186 Unspecified ADA +OMIM:608958 skos:exactMatch HGNC_symbol:ADA Unspecified ADA +OMIM:608957 skos:exactMatch UMLS:C1837065 Unspecified cd8 deficiency, familial +OMIM:608956 skos:exactMatch HGNC_symbol:SLC46A2 Unspecified SLC46A2 +OMIM:608956 skos:exactMatch UMLS:C1423942 Unspecified SLC46A2 +OMIM:608956 skos:exactMatch HGNC:16055 Unspecified SLC46A2 +OMIM:608955 skos:exactMatch UMLS:C1412990 Unspecified TTLL1 +OMIM:608955 skos:exactMatch HGNC_symbol:TTLL1 Unspecified TTLL1 +OMIM:608955 skos:exactMatch HGNC:1312 Unspecified TTLL1 +OMIM:608959 skos:exactMatch HGNC_symbol:DPH3 Unspecified DPH3 +OMIM:608959 skos:exactMatch HGNC:27717 Unspecified DPH3 +OMIM:608959 skos:exactMatch UMLS:C1538164 Unspecified DPH3 +OMIM:608961 skos:exactMatch UMLS:C2986382 Unspecified TRPM3 +OMIM:608961 skos:exactMatch HGNC_symbol:TRPM3 Unspecified TRPM3 +OMIM:608961 skos:exactMatch HGNC:17992 Unspecified TRPM3 +OMIM:608961 skos:exactMatch UMLS:C1425222 Unspecified TRPM3 +OMIM:608960 skos:exactMatch UMLS:C1824205 Unspecified ARL5A +OMIM:608960 skos:exactMatch HGNC:696 Unspecified ARL5A +OMIM:608960 skos:exactMatch HGNC_symbol:ARL5A Unspecified ARL5A +OMIM:608965 skos:exactMatch HGNC_symbol:CABP4 Unspecified CABP4 +OMIM:608965 skos:exactMatch HGNC:1386 Unspecified CABP4 +OMIM:608965 skos:exactMatch UMLS:C1413055 Unspecified CABP4 +OMIM:606302 skos:exactMatch HGNC:8712 Unspecified PCDHGB5 +OMIM:606302 skos:exactMatch UMLS:C1418361 Unspecified PCDHGB5 +OMIM:606302 skos:exactMatch HGNC_symbol:PCDHGB5 Unspecified PCDHGB5 +OMIM:608964 skos:exactMatch HGNC:19841 Unspecified TBPL2 +OMIM:608964 skos:exactMatch HGNC_symbol:TBPL2 Unspecified TBPL2 +OMIM:608964 skos:exactMatch UMLS:C1426468 Unspecified TBPL2 +OMIM:606303 skos:exactMatch HGNC:8713 Unspecified PCDHGB6 +OMIM:606303 skos:exactMatch UMLS:C1418362 Unspecified PCDHGB6 +OMIM:606303 skos:exactMatch HGNC_symbol:PCDHGB6 Unspecified PCDHGB6 +OMIM:606300 skos:exactMatch HGNC:8709 Unspecified PCDHGB2 +OMIM:606300 skos:exactMatch UMLS:C1418358 Unspecified PCDHGB2 +OMIM:606300 skos:exactMatch HGNC_symbol:PCDHGB2 Unspecified PCDHGB2 +OMIM:608963 skos:exactMatch UMLS:C3274991 Unspecified NUTM1 +OMIM:608963 skos:exactMatch UMLS:C1837033 Unspecified NUTM1 +OMIM:608963 skos:exactMatch HGNC_symbol:NUTM1 Unspecified NUTM1 +OMIM:608963 skos:exactMatch HGNC:29919 Unspecified NUTM1 +OMIM:606301 skos:exactMatch HGNC:8710 Unspecified PCDHGB3 +OMIM:606301 skos:exactMatch UMLS:C1418359 Unspecified PCDHGB3 +OMIM:606301 skos:exactMatch HGNC_symbol:PCDHGB3 Unspecified PCDHGB3 +OMIM:608962 skos:exactMatch UMLS:C1423964 Unspecified RHBDL2 +OMIM:608962 skos:exactMatch HGNC_symbol:RHBDL2 Unspecified RHBDL2 +OMIM:608962 skos:exactMatch HGNC:16083 Unspecified RHBDL2 +OMIM:608947 skos:exactMatch UMLS:C1427765 Unspecified KCTD13 +OMIM:608947 skos:exactMatch HGNC_symbol:KCTD13 Unspecified KCTD13 +OMIM:608947 skos:exactMatch HGNC:22234 Unspecified KCTD13 +OMIM:608946 skos:exactMatch HGNC:25172 Unspecified None +OMIM:608946 skos:exactMatch HGNC_symbol:FREM3 Unspecified None +OMIM:608946 skos:exactMatch UMLS:C1539532 Unspecified None +OMIM:608945 skos:exactMatch HGNC:25396 Unspecified FREM2 +OMIM:608945 skos:exactMatch HGNC_symbol:FREM2 Unspecified FREM2 +OMIM:608945 skos:exactMatch UMLS:C1539531 Unspecified FREM2 +OMIM:608944 skos:exactMatch HGNC_symbol:FREM1 Unspecified FREM1 +OMIM:608944 skos:exactMatch UMLS:C1539530 Unspecified FREM1 +OMIM:608944 skos:exactMatch HGNC:23399 Unspecified FREM1 +OMIM:608949 skos:exactMatch HGNC:24867 Unspecified GLTP +OMIM:608949 skos:exactMatch UMLS:C1825375 Unspecified GLTP +OMIM:608949 skos:exactMatch HGNC_symbol:GLTP Unspecified GLTP +OMIM:608948 skos:exactMatch HGNC:20393 Unspecified ZIC4 +OMIM:608948 skos:exactMatch UMLS:C1426910 Unspecified ZIC4 +OMIM:608948 skos:exactMatch HGNC_symbol:ZIC4 Unspecified ZIC4 +OMIM:608950 skos:exactMatch UMLS:C1837071 Unspecified MAGI2IT +OMIM:608954 skos:exactMatch HGNC_symbol:MON1B Unspecified MON1B +OMIM:608954 skos:exactMatch HGNC:25020 Unspecified MON1B +OMIM:608954 skos:exactMatch UMLS:C1537934 Unspecified MON1B +OMIM:608953 skos:exactMatch HGNC_symbol:TEKT2 Unspecified TEKT2 +OMIM:608953 skos:exactMatch HGNC:11725 Unspecified TEKT2 +OMIM:608953 skos:exactMatch UMLS:C1420687 Unspecified TEKT2 +OMIM:608952 skos:exactMatch HGNC_symbol:RIF1 Unspecified RIF1 +OMIM:608952 skos:exactMatch HGNC:23207 Unspecified RIF1 +OMIM:608952 skos:exactMatch UMLS:C1538841 Unspecified RIF1 +OMIM:608951 skos:exactMatch HGNC_symbol:CNOT6 Unspecified CNOT6 +OMIM:608951 skos:exactMatch UMLS:C1422405 Unspecified CNOT6 +OMIM:608951 skos:exactMatch HGNC:14099 Unspecified CNOT6 +OMIM:104600 skos:exactMatch UMLS:C0271556 Unspecified amenorrhea-galactorrhea syndrome +OMIM:606359 skos:exactMatch UMLS:C1423884 Unspecified WNT3A +OMIM:606359 skos:exactMatch HGNC:15983 Unspecified WNT3A +OMIM:606359 skos:exactMatch HGNC_symbol:WNT3A Unspecified WNT3A +OMIM:618340 skos:exactMatch HGNC_symbol:SMR3A Unspecified SMR3A +OMIM:618340 skos:exactMatch UMLS:C1539793 Unspecified SMR3A +OMIM:618340 skos:exactMatch HGNC:19216 Unspecified SMR3A +OMIM:618342 skos:exactMatch UMLS:C5193039 Unspecified intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +OMIM:618341 skos:exactMatch UMLS:C5193038 Unspecified spermatogenic failure 35 +OMIM:618344 skos:exactMatch HGNC:22310 Unspecified PRR15 +OMIM:618344 skos:exactMatch UMLS:C1826719 Unspecified PRR15 +OMIM:618344 skos:exactMatch HGNC_symbol:PRR15 Unspecified PRR15 +OMIM:618343 skos:exactMatch UMLS:C5193040 Unspecified polymicrogyria with or without vascular-type ehlers-danlos syndrome +OMIM:618346 skos:exactMatch UMLS:C5193042 Unspecified microcephaly, growth deficiency, seizures, and brain malformations +OMIM:618345 skos:exactMatch UMLS:C5193041 Unspecified retinitis pigmentosa 85 +OMIM:618348 skos:exactMatch UMLS:C5193044 Unspecified galloway-mowat syndrome 7 +OMIM:618347 skos:exactMatch UMLS:C5193043 Unspecified galloway-mowat syndrome 6 +OMIM:618339 skos:exactMatch UMLS:C5193037 Unspecified infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development +OMIM:618338 skos:exactMatch HGNC:24550 Unspecified METTL7A +OMIM:618338 skos:exactMatch UMLS:C1825976 Unspecified METTL7A +OMIM:618338 skos:exactMatch HGNC_symbol:METTL7A Unspecified METTL7A +OMIM:307150 skos:exactMatch UMLS:C1855900 Unspecified hypertrichosis, congenital generalized +OMIM:606360 skos:exactMatch HGNC_symbol:WNT8A Unspecified WNT8A +OMIM:606360 skos:exactMatch HGNC:12788 Unspecified WNT8A +OMIM:606360 skos:exactMatch UMLS:C1421518 Unspecified WNT8A +OMIM:606361 skos:exactMatch HGNC:16265 Unspecified WNT5B +OMIM:606361 skos:exactMatch UMLS:C1424137 Unspecified WNT5B +OMIM:606361 skos:exactMatch HGNC_symbol:WNT5B Unspecified WNT5B +OMIM:606365 skos:exactMatch HGNC_symbol:GLS2 Unspecified GLS2 +OMIM:606365 skos:exactMatch HGNC:29570 Unspecified GLS2 +OMIM:606365 skos:exactMatch UMLS:C1428877 Unspecified GLS2 +OMIM:606362 skos:exactMatch HGNC_symbol:ACP4 Unspecified ACP4 +OMIM:606362 skos:exactMatch HGNC:14376 Unspecified ACP4 +OMIM:606362 skos:exactMatch UMLS:C1422600 Unspecified ACP4 +OMIM:606363 skos:exactMatch UMLS:C1428902 Unspecified ABI3 +OMIM:606363 skos:exactMatch HGNC:29859 Unspecified ABI3 +OMIM:606363 skos:exactMatch HGNC_symbol:ABI3 Unspecified ABI3 +OMIM:606368 skos:exactMatch HGNC:17288 Unspecified APOA5 +OMIM:606368 skos:exactMatch HGNC_symbol:APOA5 Unspecified APOA5 +OMIM:606368 skos:exactMatch UMLS:C1424878 Unspecified APOA5 +OMIM:606369 skos:exactMatch UMLS:C3807541 Unspecified macrocephaly and epileptic encephalopathy +OMIM:606366 skos:exactMatch HGNC:17794 Unspecified RHOU +OMIM:606366 skos:exactMatch UMLS:C1425081 Unspecified RHOU +OMIM:606366 skos:exactMatch HGNC_symbol:RHOU Unspecified RHOU +OMIM:606367 skos:exactMatch UMLS:C1853392 Unspecified immunodeficiency 41 with lymphoproliferation and autoimmunity +OMIM:606348 skos:exactMatch UMLS:C1853438 Unspecified inflammatory bowel disease 5 +OMIM:606349 skos:exactMatch UMLS:C0030662 Unspecified gambling, pathologic +OMIM:618331 skos:exactMatch UMLS:C5193033 Unspecified encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +OMIM:618330 skos:exactMatch UMLS:C5193032 Unspecified global developmental delay with or without impaired intellectual development +OMIM:618333 skos:exactMatch UMLS:C5193035 Unspecified menke-hennekam syndrome 2 +OMIM:618332 skos:exactMatch UMLS:C5193034 Unspecified menke-hennekam syndrome 1 +OMIM:618335 skos:exactMatch HGNC:48671 Unspecified LINC00958 +OMIM:618335 skos:exactMatch UMLS:C3812452 Unspecified LINC00958 +OMIM:618335 skos:exactMatch HGNC_symbol:LINC00958 Unspecified LINC00958 +OMIM:618334 skos:exactMatch HGNC_symbol:CYBC1 Unspecified CYBC1 +OMIM:618334 skos:exactMatch UMLS:C1824454 Unspecified CYBC1 +OMIM:618334 skos:exactMatch HGNC:28672 Unspecified CYBC1 +OMIM:618334 skos:exactMatch UMLS:C5394542 Unspecified CYBC1 +OMIM:618337 skos:exactMatch HGNC_symbol:FRMD8 Unspecified FRMD8 +OMIM:618337 skos:exactMatch UMLS:C2239463 Unspecified FRMD8 +OMIM:618337 skos:exactMatch HGNC:25462 Unspecified FRMD8 +OMIM:618336 skos:exactMatch UMLS:C5193036 Unspecified intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +OMIM:618328 skos:exactMatch ORPHA:557064 Unspecified developmental and epileptic encephalopathy 71 +OMIM:618328 skos:exactMatch UMLS:C5193030 Unspecified developmental and epileptic encephalopathy 71 +OMIM:618327 skos:exactMatch HGNC_symbol:CRACD Unspecified CRACD +OMIM:618327 skos:exactMatch UMLS:C2681628 Unspecified CRACD +OMIM:618327 skos:exactMatch HGNC:29219 Unspecified CRACD +OMIM:618329 skos:exactMatch UMLS:C5193031 Unspecified combined oxidative phosphorylation deficiency 37 +OMIM:606350 skos:exactMatch HGNC:15984 Unspecified APTX +OMIM:606350 skos:exactMatch HGNC_symbol:APTX Unspecified APTX +OMIM:606350 skos:exactMatch UMLS:C1423885 Unspecified APTX +OMIM:606353 skos:exactMatch UMLS:C1853396 Unspecified primary lateral sclerosis, juvenile +OMIM:606353 skos:exactMatch ORPHA:247604 Unspecified primary lateral sclerosis, juvenile +OMIM:606351 skos:exactMatch UMLS:C1421921 Unspecified ESPN +OMIM:606351 skos:exactMatch HGNC_symbol:ESPN Unspecified ESPN +OMIM:606351 skos:exactMatch HGNC:13281 Unspecified ESPN +OMIM:606352 skos:exactMatch HGNC:443 Unspecified ALS2 +OMIM:606352 skos:exactMatch UMLS:C1853396 Unspecified ALS2 +OMIM:606352 skos:exactMatch UMLS:C2931441 Unspecified ALS2 +OMIM:606352 skos:exactMatch UMLS:C1412367 Unspecified ALS2 +OMIM:606352 skos:exactMatch UMLS:C1859807 Unspecified ALS2 +OMIM:606352 skos:exactMatch HGNC_symbol:ALS2 Unspecified ALS2 +OMIM:606357 skos:exactMatch HGNC:2744 Unspecified DDX21 +OMIM:606357 skos:exactMatch HGNC_symbol:DDX21 Unspecified DDX21 +OMIM:606357 skos:exactMatch UMLS:C1413961 Unspecified DDX21 +OMIM:606358 skos:exactMatch HGNC:328 Unspecified AGR2 +OMIM:606358 skos:exactMatch HGNC_symbol:AGR2 Unspecified AGR2 +OMIM:606358 skos:exactMatch UMLS:C1332034 Unspecified AGR2 +OMIM:606355 skos:exactMatch HGNC:2741 Unspecified DDX18 +OMIM:606355 skos:exactMatch HGNC_symbol:DDX18 Unspecified DDX18 +OMIM:606355 skos:exactMatch UMLS:C1413958 Unspecified DDX18 +OMIM:606356 skos:exactMatch UMLS:C1823382 Unspecified TMEM123 +OMIM:606356 skos:exactMatch HGNC:30138 Unspecified TMEM123 +OMIM:606356 skos:exactMatch HGNC_symbol:TMEM123 Unspecified TMEM123 +OMIM:606339 skos:exactMatch UMLS:C1418333 Unspecified PCDHB13 +OMIM:606339 skos:exactMatch HGNC_symbol:PCDHB13 Unspecified PCDHB13 +OMIM:606339 skos:exactMatch HGNC:8684 Unspecified PCDHB13 +OMIM:606337 skos:exactMatch UMLS:C1418331 Unspecified PCDHB11 +OMIM:606337 skos:exactMatch HGNC_symbol:PCDHB11 Unspecified PCDHB11 +OMIM:606337 skos:exactMatch HGNC:8682 Unspecified PCDHB11 +OMIM:608999 skos:exactMatch HGNC:12384 Unspecified TSSC2 +OMIM:608999 skos:exactMatch UMLS:C1421209 Unspecified TSSC2 +OMIM:608999 skos:exactMatch HGNC_symbol:TSSC2 Unspecified TSSC2 +OMIM:606338 skos:exactMatch UMLS:C1418332 Unspecified PCDHB12 +OMIM:606338 skos:exactMatch HGNC_symbol:PCDHB12 Unspecified PCDHB12 +OMIM:606338 skos:exactMatch HGNC:8683 Unspecified PCDHB12 +OMIM:618320 skos:exactMatch UMLS:C1421980 Unspecified PLA2G2E +OMIM:618320 skos:exactMatch HGNC_symbol:PLA2G2E Unspecified PLA2G2E +OMIM:618320 skos:exactMatch HGNC:13414 Unspecified PLA2G2E +OMIM:618322 skos:exactMatch HGNC:20067 Unspecified USP38 +OMIM:618322 skos:exactMatch HGNC_symbol:USP38 Unspecified USP38 +OMIM:618322 skos:exactMatch UMLS:C1426655 Unspecified USP38 +OMIM:618321 skos:exactMatch UMLS:C5193026 Unspecified encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 +OMIM:618321 skos:exactMatch ORPHA:555402 Unspecified encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 +OMIM:618324 skos:exactMatch UMLS:C5193028 Unspecified congenital disorder of glycosylation with defective fucosylation 2 +OMIM:618323 skos:exactMatch UMLS:C5193027 Unspecified myasthenic syndrome, congenital, 25, presynaptic +OMIM:618326 skos:exactMatch HGNC_symbol:ZCCHC3 Unspecified ZCCHC3 +OMIM:618326 skos:exactMatch UMLS:C1538159 Unspecified ZCCHC3 +OMIM:618326 skos:exactMatch HGNC:16230 Unspecified ZCCHC3 +OMIM:618325 skos:exactMatch UMLS:C5193029 Unspecified lissencephaly 9 with complex brainstem malformation +OMIM:618317 skos:exactMatch UMLS:C5193025 Unspecified basal ganglia calcification, idiopathic, 7, autosomal recessive +OMIM:618316 skos:exactMatch UMLS:C5193024 Unspecified intellectual developmental disorder with cardiac defects and dysmorphic facies +OMIM:618319 skos:exactMatch HGNC:13995 Unspecified PRDM10 +OMIM:618319 skos:exactMatch UMLS:C1422332 Unspecified PRDM10 +OMIM:618319 skos:exactMatch HGNC_symbol:PRDM10 Unspecified PRDM10 +OMIM:153600 skos:exactMatch UMLS:C1835192 Unspecified macroglobulinemia, waldenstrom, susceptibility to, 1 +OMIM:153600 skos:exactMatch ORPHA:33226 Unspecified macroglobulinemia, waldenstrom, susceptibility to, 1 +OMIM:618318 skos:exactMatch UMLS:C2681298 Unspecified CFAP119 +OMIM:618318 skos:exactMatch HGNC_symbol:CFAP119 Unspecified CFAP119 +OMIM:618318 skos:exactMatch HGNC:28078 Unspecified CFAP119 +OMIM:606342 skos:exactMatch UMLS:C1420075 Unspecified SIX4 +OMIM:606342 skos:exactMatch HGNC:10890 Unspecified SIX4 +OMIM:606342 skos:exactMatch HGNC_symbol:SIX4 Unspecified SIX4 +OMIM:606343 skos:exactMatch UMLS:C1418736 Unspecified POLL +OMIM:606343 skos:exactMatch HGNC_symbol:POLL Unspecified POLL +OMIM:606343 skos:exactMatch HGNC:9184 Unspecified POLL +OMIM:606340 skos:exactMatch HGNC_symbol:PCDHB14 Unspecified PCDHB14 +OMIM:606340 skos:exactMatch HGNC:8685 Unspecified PCDHB14 +OMIM:606340 skos:exactMatch UMLS:C1418334 Unspecified PCDHB14 +OMIM:606341 skos:exactMatch HGNC_symbol:PCDHB15 Unspecified PCDHB15 +OMIM:606341 skos:exactMatch HGNC:8686 Unspecified PCDHB15 +OMIM:606341 skos:exactMatch UMLS:C1418335 Unspecified PCDHB15 +OMIM:606346 skos:exactMatch UMLS:C2931767 Unspecified deafness, autosomal dominant 22 +OMIM:606346 skos:exactMatch UMLS:C3149009 Unspecified deafness, autosomal dominant 22 +OMIM:606347 skos:exactMatch HGNC:9580 Unspecified PSTPIP1 +OMIM:606347 skos:exactMatch HGNC_symbol:PSTPIP1 Unspecified PSTPIP1 +OMIM:606347 skos:exactMatch UMLS:C1419051 Unspecified PSTPIP1 +OMIM:606344 skos:exactMatch UMLS:C1418737 Unspecified POLM +OMIM:606344 skos:exactMatch HGNC_symbol:POLM Unspecified POLM +OMIM:606344 skos:exactMatch HGNC:9185 Unspecified POLM +OMIM:606345 skos:exactMatch UMLS:C1422745 Unspecified PCDHB16 +OMIM:606345 skos:exactMatch HGNC_symbol:PCDHB16 Unspecified PCDHB16 +OMIM:606345 skos:exactMatch HGNC:14546 Unspecified PCDHB16 +OMIM:606328 skos:exactMatch HGNC:8687 Unspecified PCDHB2 +OMIM:606328 skos:exactMatch HGNC_symbol:PCDHB2 Unspecified PCDHB2 +OMIM:606328 skos:exactMatch UMLS:C1418336 Unspecified PCDHB2 +OMIM:606329 skos:exactMatch HGNC:8688 Unspecified PCDHB3 +OMIM:606329 skos:exactMatch HGNC_symbol:PCDHB3 Unspecified PCDHB3 +OMIM:606329 skos:exactMatch UMLS:C1418337 Unspecified PCDHB3 +OMIM:606326 skos:exactMatch HGNC_symbol:SIX6 Unspecified SIX6 +OMIM:606326 skos:exactMatch UMLS:C1420077 Unspecified SIX6 +OMIM:606326 skos:exactMatch HGNC:10892 Unspecified SIX6 +OMIM:608989 skos:exactMatch HGNC:30311 Unspecified None +OMIM:608989 skos:exactMatch UMLS:C1837013 Unspecified None +OMIM:608989 skos:exactMatch HGNC_symbol:SDR16C5 Unspecified None +OMIM:606327 skos:exactMatch HGNC:8680 Unspecified PCDHB1 +OMIM:606327 skos:exactMatch HGNC_symbol:PCDHB1 Unspecified PCDHB1 +OMIM:606327 skos:exactMatch UMLS:C1418329 Unspecified PCDHB1 +OMIM:608988 skos:exactMatch UMLS:C1837812 Unspecified atrial fibrillation, familial, 2 +OMIM:618311 skos:exactMatch UMLS:C1424730 Unspecified RRS1 +OMIM:618311 skos:exactMatch HGNC_symbol:RRS1 Unspecified RRS1 +OMIM:618311 skos:exactMatch HGNC:17083 Unspecified RRS1 +OMIM:153619 skos:exactMatch HGNC:6563 Unspecified LGALS3 +OMIM:153619 skos:exactMatch HGNC_symbol:LGALS3 Unspecified LGALS3 +OMIM:153619 skos:exactMatch UMLS:C1416831 Unspecified LGALS3 +OMIM:618310 skos:exactMatch ORPHA:124 Unspecified diamond-blackfan anemia 18 +OMIM:618310 skos:exactMatch UMLS:C5193020 Unspecified diamond-blackfan anemia 18 +OMIM:153618 skos:exactMatch UMLS:C1417249 Unspecified MRC1 +OMIM:153618 skos:exactMatch HGNC_symbol:MRC1 Unspecified MRC1 +OMIM:153618 skos:exactMatch HGNC:7228 Unspecified MRC1 +OMIM:618313 skos:exactMatch ORPHA:124 Unspecified diamond-blackfan anemia 20 +OMIM:618313 skos:exactMatch UMLS:C5193022 Unspecified diamond-blackfan anemia 20 +OMIM:618312 skos:exactMatch ORPHA:124 Unspecified diamond-blackfan anemia 19 +OMIM:618312 skos:exactMatch UMLS:C5193021 Unspecified diamond-blackfan anemia 19 +OMIM:618315 skos:exactMatch HGNC_symbol:RPL35 Unspecified RPL35 +OMIM:618315 skos:exactMatch UMLS:C1419667 Unspecified RPL35 +OMIM:618315 skos:exactMatch HGNC:10344 Unspecified RPL35 +OMIM:618314 skos:exactMatch UMLS:C5193023 Unspecified hypomagnesemia, seizures, and mental retardation 2 +OMIM:153615 skos:exactMatch HGNC_symbol:CAPG Unspecified CAPG +OMIM:153615 skos:exactMatch HGNC:1474 Unspecified CAPG +OMIM:153615 skos:exactMatch UMLS:C1413108 Unspecified CAPG +OMIM:618306 skos:exactMatch UMLS:C1538723 Unspecified PRR7 +OMIM:618306 skos:exactMatch HGNC_symbol:PRR7 Unspecified PRR7 +OMIM:618306 skos:exactMatch HGNC:28130 Unspecified PRR7 +OMIM:618305 skos:exactMatch UMLS:C4749041 Unspecified ATP1A1AS1 +OMIM:618305 skos:exactMatch HGNC:28262 Unspecified ATP1A1AS1 +OMIM:618305 skos:exactMatch HGNC_symbol:ATP1A1-AS1 Unspecified ATP1A1AS1 +OMIM:618308 skos:exactMatch HGNC:19826 Unspecified NOP9 +OMIM:618308 skos:exactMatch UMLS:C3541852 Unspecified NOP9 +OMIM:618308 skos:exactMatch HGNC_symbol:NOP9 Unspecified NOP9 +OMIM:618307 skos:exactMatch UMLS:C4749042 Unspecified epidermodysplasia verruciformis, susceptibility to, 4 +OMIM:608990 skos:exactMatch UMLS:C1421875 Unspecified ADAMTS10 +OMIM:608990 skos:exactMatch HGNC_symbol:ADAMTS10 Unspecified ADAMTS10 +OMIM:608990 skos:exactMatch HGNC:13201 Unspecified ADAMTS10 +OMIM:618309 skos:exactMatch UMLS:C4749043 Unspecified epidermodysplasia verruciformis, susceptibility to, 5 +OMIM:606331 skos:exactMatch UMLS:C1418339 Unspecified PCDHB5 +OMIM:606331 skos:exactMatch HGNC:8690 Unspecified PCDHB5 +OMIM:606331 skos:exactMatch HGNC_symbol:PCDHB5 Unspecified PCDHB5 +OMIM:608994 skos:exactMatch UMLS:C1823693 Unspecified ANKS1A +OMIM:608994 skos:exactMatch HGNC:20961 Unspecified ANKS1A +OMIM:608994 skos:exactMatch HGNC_symbol:ANKS1A Unspecified ANKS1A +OMIM:608993 skos:exactMatch HGNC:17356 Unspecified APOBEC3F +OMIM:608993 skos:exactMatch HGNC_symbol:APOBEC3F Unspecified APOBEC3F +OMIM:608993 skos:exactMatch UMLS:C1424929 Unspecified APOBEC3F +OMIM:606332 skos:exactMatch UMLS:C1418340 Unspecified PCDHB6 +OMIM:606332 skos:exactMatch HGNC:8691 Unspecified PCDHB6 +OMIM:606332 skos:exactMatch HGNC_symbol:PCDHB6 Unspecified PCDHB6 +OMIM:608992 skos:exactMatch HGNC:1002 Unspecified BCL6B +OMIM:608992 skos:exactMatch HGNC_symbol:BCL6B Unspecified BCL6B +OMIM:608992 skos:exactMatch UMLS:C1412766 Unspecified BCL6B +OMIM:606330 skos:exactMatch UMLS:C1418338 Unspecified PCDHB4 +OMIM:606330 skos:exactMatch HGNC:8689 Unspecified PCDHB4 +OMIM:606330 skos:exactMatch HGNC_symbol:PCDHB4 Unspecified PCDHB4 +OMIM:608991 skos:exactMatch HGNC_symbol:MAML3 Unspecified MAML3 +OMIM:608991 skos:exactMatch HGNC:16272 Unspecified MAML3 +OMIM:608991 skos:exactMatch UMLS:C1424142 Unspecified MAML3 +OMIM:608998 skos:exactMatch HGNC:12383 Unspecified EIPR1 +OMIM:608998 skos:exactMatch HGNC_symbol:EIPR1 Unspecified EIPR1 +OMIM:608998 skos:exactMatch UMLS:C1336683 Unspecified EIPR1 +OMIM:606335 skos:exactMatch HGNC_symbol:PCDHB9 Unspecified PCDHB9 +OMIM:606335 skos:exactMatch UMLS:C1418343 Unspecified PCDHB9 +OMIM:606335 skos:exactMatch HGNC:8694 Unspecified PCDHB9 +OMIM:606336 skos:exactMatch UMLS:C1418330 Unspecified PCDHB10 +OMIM:606336 skos:exactMatch HGNC_symbol:PCDHB10 Unspecified PCDHB10 +OMIM:606336 skos:exactMatch HGNC:8681 Unspecified PCDHB10 +OMIM:606333 skos:exactMatch UMLS:C1418341 Unspecified PCDHB7 +OMIM:606333 skos:exactMatch HGNC:8692 Unspecified PCDHB7 +OMIM:606333 skos:exactMatch HGNC_symbol:PCDHB7 Unspecified PCDHB7 +OMIM:608996 skos:exactMatch UMLS:C1837008 Unspecified premature ovarian failure 3 +OMIM:606334 skos:exactMatch HGNC_symbol:PCDHB8 Unspecified PCDHB8 +OMIM:606334 skos:exactMatch UMLS:C1418342 Unspecified PCDHB8 +OMIM:606334 skos:exactMatch HGNC:8693 Unspecified PCDHB8 +OMIM:608995 skos:exactMatch UMLS:C1837009 Unspecified dyslexia, susceptibility to, 8 +OMIM:618380 skos:exactMatch HGNC_symbol:FAM83D Unspecified FAM83D +OMIM:618380 skos:exactMatch UMLS:C1825164 Unspecified FAM83D +OMIM:618380 skos:exactMatch HGNC:16122 Unspecified FAM83D +OMIM:618382 skos:exactMatch HGNC:26235 Unspecified CIAO2A +OMIM:618382 skos:exactMatch HGNC_symbol:CIAO2A Unspecified CIAO2A +OMIM:618382 skos:exactMatch UMLS:C1825215 Unspecified CIAO2A +OMIM:618381 skos:exactMatch UMLS:C5193066 Unspecified facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +OMIM:618384 skos:exactMatch UMLS:C5193068 Unspecified leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate +OMIM:618383 skos:exactMatch UMLS:C5193067 Unspecified intellectual developmental disorder, autosomal recessive 69 +OMIM:618386 skos:exactMatch UMLS:C5193069 Unspecified amelogenesis imperfecta, iia 3c +OMIM:618385 skos:exactMatch UMLS:C1426629 Unspecified CAP2 +OMIM:618385 skos:exactMatch HGNC_symbol:CAP2 Unspecified CAP2 +OMIM:618385 skos:exactMatch HGNC:20039 Unspecified CAP2 +OMIM:618388 skos:exactMatch UMLS:C4760576 Unspecified fetal akinesia deformation sequence 2 +OMIM:618388 skos:exactMatch ORPHA:994 Unspecified fetal akinesia deformation sequence 2 +OMIM:618387 skos:exactMatch UMLS:C5193070 Unspecified spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 +OMIM:618389 skos:exactMatch UMLS:C4760599 Unspecified fetal akinesia deformation sequence 3 +OMIM:618389 skos:exactMatch ORPHA:994 Unspecified fetal akinesia deformation sequence 3 +OMIM:153622 skos:exactMatch UMLS:C1417374 Unspecified MSR1 +OMIM:153622 skos:exactMatch HGNC_symbol:MSR1 Unspecified MSR1 +OMIM:153622 skos:exactMatch HGNC:7376 Unspecified MSR1 +OMIM:153620 skos:exactMatch HGNC_symbol:MIF Unspecified MIF +OMIM:153620 skos:exactMatch HGNC:7097 Unspecified MIF +OMIM:153620 skos:exactMatch UMLS:C1334507 Unspecified MIF +OMIM:248450 skos:exactMatch UMLS:C1855425 Unspecified manitoba oculotrichoanal syndrome +OMIM:138000 skos:exactMatch UMLS:C1841984 Unspecified glomuvenous malformations +OMIM:273400 skos:exactMatch UMLS:C0406723 Unspecified tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities +OMIM:618371 skos:exactMatch UMLS:C5193060 Unspecified turnpenny-fry syndrome +OMIM:618370 skos:exactMatch HGNC:31983 Unspecified NEXNAS1 +OMIM:618370 skos:exactMatch UMLS:C5193059 Unspecified NEXNAS1 +OMIM:618370 skos:exactMatch HGNC_symbol:NEXN-AS1 Unspecified NEXNAS1 +OMIM:165600 skos:exactMatch UMLS:C1833795 Unspecified orbital margin, hypoplasia of +OMIM:236450 skos:exactMatch UMLS:C1856054 Unspecified hutterite cerebroosteonephrodysplasia syndrome +OMIM:618373 skos:exactMatch UMLS:C5193062 Unspecified cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma +OMIM:618372 skos:exactMatch UMLS:C5193061 Unspecified gastrointestinal ulceration, recurrent, with dysfunctional platelets +OMIM:618375 skos:exactMatch HGNC_symbol:FAAHP1 Unspecified FAAHP1 +OMIM:618375 skos:exactMatch UMLS:C3889525 Unspecified FAAHP1 +OMIM:618375 skos:exactMatch HGNC:50679 Unspecified FAAHP1 +OMIM:618374 skos:exactMatch UMLS:C5193063 Unspecified developmental and epileptic encephalopathy 72 +OMIM:618377 skos:exactMatch UMLS:C4760611 Unspecified pain sensitivity quantitative trait locus 1 +OMIM:618376 skos:exactMatch HGNC:14370 Unspecified PRSS23 +OMIM:618376 skos:exactMatch HGNC_symbol:PRSS23 Unspecified PRSS23 +OMIM:618376 skos:exactMatch UMLS:C1538727 Unspecified PRSS23 +OMIM:618379 skos:exactMatch ORPHA:544503 Unspecified developmental and epileptic encephalopathy 73 +OMIM:618379 skos:exactMatch UMLS:C5193065 Unspecified developmental and epileptic encephalopathy 73 +OMIM:618378 skos:exactMatch UMLS:C5193064 Unspecified combined oxidative phosphorylation deficiency 38 +OMIM:153634 skos:exactMatch HGNC_symbol:CD68 Unspecified CD68 +OMIM:153634 skos:exactMatch UMLS:C1413234 Unspecified CD68 +OMIM:153634 skos:exactMatch HGNC:1693 Unspecified CD68 +OMIM:606393 skos:exactMatch UMLS:C1424167 Unspecified ADAMDEC1 +OMIM:606393 skos:exactMatch HGNC_symbol:ADAMDEC1 Unspecified ADAMDEC1 +OMIM:606393 skos:exactMatch HGNC:16299 Unspecified ADAMDEC1 +OMIM:606394 skos:exactMatch UMLS:C1853371 Unspecified maturity-onset diabetes of the young, iia 6 +OMIM:153630 skos:exactMatch UMLS:C0024421 Unspecified macroglossia +OMIM:606391 skos:exactMatch UMLS:C0342276 Unspecified maturity-onset diabetes of the young +OMIM:606392 skos:exactMatch UMLS:C1833382 Unspecified maturity-onset diabetes of the young, iia 4 +OMIM:606397 skos:exactMatch HGNC:12605 Unspecified CLRN1 +OMIM:606397 skos:exactMatch HGNC_symbol:CLRN1 Unspecified CLRN1 +OMIM:606397 skos:exactMatch UMLS:C1824756 Unspecified CLRN1 +OMIM:606398 skos:exactMatch UMLS:C1412621 Unspecified ATF5 +OMIM:606398 skos:exactMatch HGNC_symbol:ATF5 Unspecified ATF5 +OMIM:606398 skos:exactMatch HGNC:790 Unspecified ATF5 +OMIM:606395 skos:exactMatch UMLS:C1418883 Unspecified PREB +OMIM:606395 skos:exactMatch HGNC_symbol:PREB Unspecified PREB +OMIM:606395 skos:exactMatch HGNC:9356 Unspecified PREB +OMIM:606396 skos:exactMatch HGNC_symbol:BIN3 Unspecified BIN3 +OMIM:606396 skos:exactMatch UMLS:C1412798 Unspecified BIN3 +OMIM:606396 skos:exactMatch HGNC:1054 Unspecified BIN3 +OMIM:606399 skos:exactMatch HGNC:15460 Unspecified CACNA2D3 +OMIM:606399 skos:exactMatch UMLS:C1423504 Unspecified CACNA2D3 +OMIM:606399 skos:exactMatch HGNC_symbol:CACNA2D3 Unspecified CACNA2D3 +OMIM:618360 skos:exactMatch UMLS:C5193053 Unspecified brain small vessel disease 3 +OMIM:618362 skos:exactMatch UMLS:C5193054 Unspecified coffin-siris syndrome 8 +OMIM:618361 skos:exactMatch UMLS:C1539315 Unspecified DUSP23 +OMIM:618361 skos:exactMatch HGNC_symbol:DUSP23 Unspecified DUSP23 +OMIM:618361 skos:exactMatch HGNC:21480 Unspecified DUSP23 +OMIM:618364 skos:exactMatch UMLS:C5193056 Unspecified myoclonus, familial, 2 +OMIM:618363 skos:exactMatch UMLS:C5193055 Unspecified short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis +OMIM:618366 skos:exactMatch UMLS:C1823636 Unspecified VPS8 +OMIM:618366 skos:exactMatch HGNC_symbol:VPS8 Unspecified VPS8 +OMIM:618366 skos:exactMatch HGNC:29122 Unspecified VPS8 +OMIM:618365 skos:exactMatch HGNC:12997 Unspecified ZSCAN10 +OMIM:618365 skos:exactMatch UMLS:C2240223 Unspecified ZSCAN10 +OMIM:618365 skos:exactMatch HGNC_symbol:ZSCAN10 Unspecified ZSCAN10 +OMIM:618368 skos:exactMatch HGNC:28161 Unspecified DUSP26 +OMIM:618368 skos:exactMatch UMLS:C1539317 Unspecified DUSP26 +OMIM:618368 skos:exactMatch HGNC_symbol:DUSP26 Unspecified DUSP26 +OMIM:618367 skos:exactMatch UMLS:C5193057 Unspecified neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination +OMIM:261400 skos:exactMatch UMLS:C1850001 Unspecified peroneus tertius muscle, absence of +OMIM:618369 skos:exactMatch UMLS:C5193058 Unspecified spinocerebellar ataxia, autosomal recessive 27 +OMIM:606382 skos:exactMatch HGNC_symbol:MAGI2 Unspecified MAGI2 +OMIM:606382 skos:exactMatch HGNC:18957 Unspecified MAGI2 +OMIM:606382 skos:exactMatch UMLS:C1825938 Unspecified MAGI2 +OMIM:606383 skos:exactMatch HGNC_symbol:GPR84 Unspecified GPR84 +OMIM:606383 skos:exactMatch HGNC:4535 Unspecified GPR84 +OMIM:606383 skos:exactMatch UMLS:C1415265 Unspecified GPR84 +OMIM:606380 skos:exactMatch UMLS:C1538559 Unspecified P2RY13 +OMIM:606380 skos:exactMatch HGNC:4537 Unspecified P2RY13 +OMIM:606380 skos:exactMatch HGNC_symbol:P2RY13 Unspecified P2RY13 +OMIM:606381 skos:exactMatch HGNC_symbol:SUCNR1 Unspecified SUCNR1 +OMIM:606381 skos:exactMatch UMLS:C1539890 Unspecified SUCNR1 +OMIM:606381 skos:exactMatch HGNC:4542 Unspecified SUCNR1 +OMIM:606386 skos:exactMatch HGNC_symbol:OLIG2 Unspecified OLIG2 +OMIM:606386 skos:exactMatch HGNC:9398 Unspecified OLIG2 +OMIM:606386 skos:exactMatch UMLS:C1418915 Unspecified OLIG2 +OMIM:606387 skos:exactMatch HGNC:29787 Unspecified TOP1MT +OMIM:606387 skos:exactMatch HGNC_symbol:TOP1MT Unspecified TOP1MT +OMIM:606387 skos:exactMatch UMLS:C1540038 Unspecified TOP1MT +OMIM:606384 skos:exactMatch HGNC_symbol:NEDD4L Unspecified NEDD4L +OMIM:606384 skos:exactMatch HGNC:7728 Unspecified NEDD4L +OMIM:606384 skos:exactMatch UMLS:C1417660 Unspecified NEDD4L +OMIM:606385 skos:exactMatch HGNC_symbol:OLIG1 Unspecified OLIG1 +OMIM:606385 skos:exactMatch HGNC:16983 Unspecified OLIG1 +OMIM:606385 skos:exactMatch UMLS:C1424672 Unspecified OLIG1 +OMIM:606388 skos:exactMatch UMLS:C1823268 Unspecified THEM4 +OMIM:606388 skos:exactMatch HGNC:17947 Unspecified THEM4 +OMIM:606388 skos:exactMatch HGNC_symbol:THEM4 Unspecified THEM4 +OMIM:606389 skos:exactMatch UMLS:C1424753 Unspecified CATSPER1 +OMIM:606389 skos:exactMatch HGNC_symbol:CATSPER1 Unspecified CATSPER1 +OMIM:606389 skos:exactMatch HGNC:17116 Unspecified CATSPER1 +OMIM:618351 skos:exactMatch UMLS:C5193046 Unspecified microcephaly 25, primary, autosomal recessive +OMIM:618350 skos:exactMatch HGNC_symbol:TRAPPC14 Unspecified MAP11 +OMIM:618350 skos:exactMatch HGNC:25604 Unspecified MAP11 +OMIM:618350 skos:exactMatch UMLS:C1824228 Unspecified MAP11 +OMIM:618353 skos:exactMatch UMLS:C5193047 Unspecified oocyte maturation defect 6 +OMIM:618352 skos:exactMatch UMLS:C1274708 Unspecified central centrifugal cicatricial alopecia +OMIM:618355 skos:exactMatch UMLS:C4760639 Unspecified ALG10 +OMIM:618355 skos:exactMatch HGNC:23162 Unspecified ALG10 +OMIM:618355 skos:exactMatch HGNC_symbol:ALG10 Unspecified ALG10 +OMIM:618354 skos:exactMatch UMLS:C5193048 Unspecified neurodevelopmental disorder and language delay with or without structural brain abnormalities +OMIM:618357 skos:exactMatch UMLS:C5193050 Unspecified epilepsy, idiopathic generalized, susceptibility to, 15 +OMIM:618356 skos:exactMatch UMLS:C5193049 Unspecified neurodevelopmental disorder with central and peripheral motor dysfunction +OMIM:618359 skos:exactMatch HGNC_symbol:ZNF197 Unspecified ZNF197 +OMIM:618359 skos:exactMatch UMLS:C1421685 Unspecified ZNF197 +OMIM:618359 skos:exactMatch UMLS:C5193052 Unspecified ZNF197 +OMIM:618359 skos:exactMatch HGNC:12988 Unspecified ZNF197 +OMIM:618358 skos:exactMatch UMLS:C5193051 Unspecified cone-rod dystrophy and hearing loss 2 +OMIM:618349 skos:exactMatch UMLS:C5193045 Unspecified galloway-mowat syndrome 8 +OMIM:606371 skos:exactMatch HGNC:792 Unspecified ATF7 +OMIM:606371 skos:exactMatch UMLS:C1412623 Unspecified ATF7 +OMIM:606371 skos:exactMatch HGNC_symbol:ATF7 Unspecified ATF7 +OMIM:606372 skos:exactMatch HGNC_symbol:CHRNA10 Unspecified CHRNA10 +OMIM:606372 skos:exactMatch HGNC:13800 Unspecified CHRNA10 +OMIM:606372 skos:exactMatch UMLS:C1422200 Unspecified CHRNA10 +OMIM:177600 skos:exactMatch UMLS:C1867466 Unspecified pseudocholinesterase, increase 1n plasma level of +OMIM:606370 skos:exactMatch HGNC_symbol:TPK1 Unspecified TPK1 +OMIM:606370 skos:exactMatch UMLS:C1424931 Unspecified TPK1 +OMIM:606370 skos:exactMatch HGNC:17358 Unspecified TPK1 +OMIM:606376 skos:exactMatch UMLS:C1426300 Unspecified CHST10 +OMIM:606376 skos:exactMatch HGNC_symbol:CHST10 Unspecified CHST10 +OMIM:606376 skos:exactMatch HGNC:19650 Unspecified CHST10 +OMIM:138030 skos:exactMatch HGNC_symbol:GCG Unspecified GCG +OMIM:138030 skos:exactMatch UMLS:C1333664 Unspecified GCG +OMIM:138030 skos:exactMatch HGNC:4191 Unspecified GCG +OMIM:138033 skos:exactMatch UMLS:C1415011 Unspecified GCGR +OMIM:138033 skos:exactMatch UMLS:C5394558 Unspecified GCGR +OMIM:138033 skos:exactMatch HGNC_symbol:GCGR Unspecified GCGR +OMIM:138033 skos:exactMatch HGNC:4192 Unspecified GCGR +OMIM:606373 skos:exactMatch HGNC:14074 Unspecified FMN2 +OMIM:606373 skos:exactMatch UMLS:C1422390 Unspecified FMN2 +OMIM:606373 skos:exactMatch HGNC_symbol:FMN2 Unspecified FMN2 +OMIM:138032 skos:exactMatch UMLS:C1415105 Unspecified GLP1R +OMIM:138032 skos:exactMatch HGNC:4324 Unspecified GLP1R +OMIM:138032 skos:exactMatch HGNC_symbol:GLP1R Unspecified GLP1R +OMIM:606374 skos:exactMatch HGNC:923 Unspecified B3GAT3 +OMIM:606374 skos:exactMatch UMLS:C1412718 Unspecified B3GAT3 +OMIM:606374 skos:exactMatch UMLS:C4310897 Unspecified B3GAT3 +OMIM:606374 skos:exactMatch HGNC_symbol:B3GAT3 Unspecified B3GAT3 +OMIM:606374 skos:exactMatch UMLS:C3278404 Unspecified B3GAT3 +OMIM:606379 skos:exactMatch UMLS:C1415268 Unspecified GPR87 +OMIM:606379 skos:exactMatch HGNC_symbol:GPR87 Unspecified GPR87 +OMIM:606379 skos:exactMatch HGNC:4538 Unspecified GPR87 +OMIM:606377 skos:exactMatch HGNC_symbol:DHDH Unspecified DHDH +OMIM:606377 skos:exactMatch HGNC:17887 Unspecified DHDH +OMIM:606377 skos:exactMatch UMLS:C1425156 Unspecified DHDH +OMIM:606378 skos:exactMatch HGNC:17846 Unspecified ST6GALNAC4 +OMIM:606378 skos:exactMatch HGNC_symbol:ST6GALNAC4 Unspecified ST6GALNAC4 +OMIM:606378 skos:exactMatch UMLS:C1539870 Unspecified ST6GALNAC4 +OMIM:248400 skos:exactMatch UMLS:C4692584 Unspecified mandibulofacial dysostosis with mental retardation +OMIM:151000 skos:exactMatch UMLS:C1835484 Unspecified lentiginosis, centrofacial neurodysraphic +OMIM:151001 skos:exactMatch UMLS:C3492944 Unspecified lentiginosis, inherited patterned +OMIM:236410 skos:exactMatch UMLS:C1968717 Unspecified humeroradial synostosis with craniofacial anomalies +OMIM:138040 skos:exactMatch HGNC_symbol:NR3C1 Unspecified NR3C1 +OMIM:138040 skos:exactMatch HGNC:7978 Unspecified NR3C1 +OMIM:138040 skos:exactMatch UMLS:C1334899 Unspecified NR3C1 +OMIM:165640 skos:exactMatch HGNC:8109 Unspecified ODC1 +OMIM:165640 skos:exactMatch HGNC_symbol:ODC1 Unspecified ODC1 +OMIM:165640 skos:exactMatch UMLS:C5436741 Unspecified ODC1 +OMIM:165640 skos:exactMatch UMLS:C5436942 Unspecified ODC1 +OMIM:165640 skos:exactMatch UMLS:C1417932 Unspecified ODC1 +OMIM:165640 skos:exactMatch UMLS:C1417933 Unspecified ODC1 +OMIM:153670 skos:exactMatch UMLS:C3277076 Unspecified bernard-soulier syndrome, iia a2, autosomal dominant +OMIM:236400 skos:exactMatch UMLS:C2930865 Unspecified humeroradial synostosis +OMIM:236400 skos:exactMatch UMLS:C1856055 Unspecified humeroradial synostosis +OMIM:189600 skos:exactMatch UMLS:C0040485 Unspecified torticollis +OMIM:165670 skos:exactMatch UMLS:C1833791 Unspecified ossified ear cartilages +OMIM:177650 skos:exactMatch UMLS:C0206368 Unspecified exfoliation syndrome +OMIM:151020 skos:exactMatch UMLS:C1835483 Unspecified None +OMIM:138060 skos:exactMatch HGNC_symbol:NR3C1P1 Unspecified glucocorticoid receptor-like 1 +OMIM:138060 skos:exactMatch HGNC:4592 Unspecified glucocorticoid receptor-like 1 +OMIM:138060 skos:exactMatch UMLS:C1841967 Unspecified glucocorticoid receptor-like 1 +OMIM:618391 skos:exactMatch UMLS:C1825848 Unspecified DPH6 +OMIM:618391 skos:exactMatch HGNC_symbol:DPH6 Unspecified DPH6 +OMIM:618391 skos:exactMatch HGNC:30543 Unspecified DPH6 +OMIM:618390 skos:exactMatch HGNC:22393 Unspecified BRINP3 +OMIM:618390 skos:exactMatch UMLS:C4553362 Unspecified BRINP3 +OMIM:618390 skos:exactMatch HGNC_symbol:BRINP3 Unspecified BRINP3 +OMIM:618393 skos:exactMatch UMLS:C4760578 Unspecified fetal akinesia deformation sequence 4 +OMIM:310700 skos:exactMatch UMLS:C1839580 Unspecified nystagmus 1, congenital, X-linked +OMIM:310700 skos:exactMatch UMLS:C3151880 Unspecified nystagmus 1, congenital, X-linked +OMIM:190600 skos:exactMatch UMLS:C2931238 Unspecified triphalangeal thumb, nonopposable +OMIM:618392 skos:exactMatch UMLS:C5193071 Unspecified spondyloepiphyseal dysplasia, kondo-fu iia +OMIM:618395 skos:exactMatch UMLS:C5193073 Unspecified spondyloepimetaphyseal dysplasia with joint laxity, iia 3 +OMIM:618394 skos:exactMatch UMLS:C5193072 Unspecified immunodeficiency 60 and autoimmunity +OMIM:618397 skos:exactMatch UMLS:C5193075 Unspecified combined oxidative phosphorylation deficiency 39 +OMIM:618397 skos:exactMatch ORPHA:565624 Unspecified combined oxidative phosphorylation deficiency 39 +OMIM:618396 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 74 +OMIM:618396 skos:exactMatch UMLS:C5193074 Unspecified developmental and epileptic encephalopathy 74 +OMIM:618399 skos:exactMatch HGNC_symbol:GLT8D1 Unspecified GLT8D1 +OMIM:618399 skos:exactMatch UMLS:C1539576 Unspecified GLT8D1 +OMIM:618399 skos:exactMatch HGNC:24870 Unspecified GLT8D1 +OMIM:163000 skos:exactMatch UMLS:C0340803 Unspecified capillary malformations, congenital +OMIM:618398 skos:exactMatch UMLS:C0522624 Unspecified t-cell lymphoma, subcutaneous panniculitis-like +OMIM:165660 skos:exactMatch UMLS:C1833792 Unspecified oslam syndrome +OMIM:138070 skos:exactMatch UMLS:C0268536 Unspecified glucoglycinuria +OMIM:126090 skos:exactMatch UMLS:C1418296 Unspecified PCBD1 +OMIM:126090 skos:exactMatch HGNC_symbol:PCBD1 Unspecified PCBD1 +OMIM:126090 skos:exactMatch HGNC:8646 Unspecified PCBD1 +OMIM:212400 skos:exactMatch UMLS:C1859315 Unspecified cataract and congenital ichthyosis +OMIM:224410 skos:exactMatch UMLS:C1857100 Unspecified dyssegmental dysplasia, silverman-handmaker iia +OMIM:224410 skos:exactMatch ORPHA:1865 Unspecified dyssegmental dysplasia, silverman-handmaker iia +OMIM:126070 skos:exactMatch UMLS:C1876214 Unspecified dilution, pigmentary +OMIM:165590 skos:exactMatch UMLS:C1833796 Unspecified orofaciodigital syndrome 10 +OMIM:114090 skos:exactMatch HGNC_symbol:CAST Unspecified CAST +OMIM:114090 skos:exactMatch HGNC:1515 Unspecified CAST +OMIM:114090 skos:exactMatch UMLS:C1413137 Unspecified CAST +OMIM:114078 skos:exactMatch UMLS:C4748167 Unspecified CAMK2A +OMIM:114078 skos:exactMatch HGNC:1460 Unspecified CAMK2A +OMIM:114078 skos:exactMatch UMLS:C4540481 Unspecified CAMK2A +OMIM:114078 skos:exactMatch UMLS:C1413099 Unspecified CAMK2A +OMIM:114078 skos:exactMatch HGNC_symbol:CAMK2A Unspecified CAMK2A +OMIM:126064 skos:exactMatch HGNC:2867 Unspecified DHODH +OMIM:126064 skos:exactMatch UMLS:C1333217 Unspecified DHODH +OMIM:126064 skos:exactMatch HGNC_symbol:DHODH Unspecified DHODH +OMIM:126065 skos:exactMatch HGNC:2602 Unspecified CYP24A1 +OMIM:126065 skos:exactMatch UMLS:C1413862 Unspecified CYP24A1 +OMIM:126065 skos:exactMatch HGNC_symbol:CYP24A1 Unspecified CYP24A1 +OMIM:126063 skos:exactMatch UMLS:C1414073 Unspecified DLST +OMIM:126063 skos:exactMatch HGNC:2911 Unspecified DLST +OMIM:126063 skos:exactMatch HGNC_symbol:DLST Unspecified DLST +OMIM:126060 skos:exactMatch UMLS:C1333216 Unspecified DHFR +OMIM:126060 skos:exactMatch UMLS:C1852082 Unspecified DHFR +OMIM:126060 skos:exactMatch HGNC_symbol:DHFR Unspecified DHFR +OMIM:126060 skos:exactMatch HGNC:2861 Unspecified DHFR +OMIM:200450 skos:exactMatch UMLS:C1860212 Unspecified achalasia-microcephaly syndrome +OMIM:224400 skos:exactMatch UMLS:C0432209 Unspecified dyssegmental dysplasia, rolland-desbuquois iia +OMIM:114085 skos:exactMatch UMLS:C1419782 Unspecified S100A10 +OMIM:114085 skos:exactMatch HGNC:10487 Unspecified S100A10 +OMIM:114085 skos:exactMatch HGNC_symbol:S100A10 Unspecified S100A10 +OMIM:114080 skos:exactMatch HGNC_symbol:CAMK4 Unspecified CAMK4 +OMIM:114080 skos:exactMatch HGNC:1464 Unspecified CAMK4 +OMIM:114080 skos:exactMatch UMLS:C1413103 Unspecified CAMK4 +OMIM:114065 skos:exactMatch UMLS:C1861974 Unspecified calcific aortic disease with immunologic abnormalities, familial +OMIM:126050 skos:exactMatch UMLS:C1852085 Unspecified digitotalar dysmorphism +OMIM:114070 skos:exactMatch UMLS:C1412426 Unspecified ANXA6 +OMIM:114070 skos:exactMatch HGNC_symbol:ANXA6 Unspecified ANXA6 +OMIM:114070 skos:exactMatch HGNC:544 Unspecified ANXA6 +OMIM:200400 skos:exactMatch UMLS:C1860213 Unspecified achalasia, familial esophageal +OMIM:114051 skos:exactMatch HGNC_symbol:CALB2 Unspecified CALB2 +OMIM:114051 skos:exactMatch HGNC:1435 Unspecified CALB2 +OMIM:114051 skos:exactMatch UMLS:C1413081 Unspecified CALB2 +OMIM:114050 skos:exactMatch HGNC:1434 Unspecified CALB1 +OMIM:114050 skos:exactMatch UMLS:C1413080 Unspecified CALB1 +OMIM:114050 skos:exactMatch HGNC_symbol:CALB1 Unspecified CALB1 +OMIM:114025 skos:exactMatch UMLS:C1413796 Unspecified CTNNA2 +OMIM:114025 skos:exactMatch HGNC_symbol:CTNNA2 Unspecified CTNNA2 +OMIM:114025 skos:exactMatch HGNC:2510 Unspecified CTNNA2 +OMIM:114021 skos:exactMatch UMLS:C1337110 Unspecified CDH3 +OMIM:114021 skos:exactMatch HGNC_symbol:CDH3 Unspecified CDH3 +OMIM:114021 skos:exactMatch HGNC:1762 Unspecified CDH3 +OMIM:114030 skos:exactMatch UMLS:C1861975 Unspecified cafe-au-lait spots, multiple +OMIM:114010 skos:exactMatch UMLS:C4225320 Unspecified CAD +OMIM:114010 skos:exactMatch HGNC_symbol:CAD Unspecified CAD +OMIM:114010 skos:exactMatch HGNC:1424 Unspecified CAD +OMIM:114010 skos:exactMatch UMLS:C1413078 Unspecified CAD +OMIM:114019 skos:exactMatch HGNC:1754 Unspecified CDH15 +OMIM:114019 skos:exactMatch UMLS:C1413272 Unspecified CDH15 +OMIM:114019 skos:exactMatch HGNC_symbol:CDH15 Unspecified CDH15 +OMIM:114020 skos:exactMatch UMLS:C5394523 Unspecified CDH2 +OMIM:114020 skos:exactMatch UMLS:C5394505 Unspecified CDH2 +OMIM:114020 skos:exactMatch HGNC_symbol:CDH2 Unspecified CDH2 +OMIM:114020 skos:exactMatch HGNC:1759 Unspecified CDH2 +OMIM:114020 skos:exactMatch UMLS:C1413277 Unspecified CDH2 +OMIM:114000 skos:exactMatch UMLS:C0020497 Unspecified caffey disease +OMIM:114000 skos:exactMatch ORPHA:1310 Unspecified caffey disease +OMIM:608936 skos:exactMatch HGNC_symbol:OPRPN Unspecified OPRPN +OMIM:608936 skos:exactMatch HGNC:17279 Unspecified OPRPN +OMIM:608936 skos:exactMatch UMLS:C1424870 Unspecified OPRPN +OMIM:608935 skos:exactMatch UMLS:C1837089 Unspecified lung cancer susceptibility 1 +OMIM:608934 skos:exactMatch UMLS:C1538054 Unspecified NEIL3 +OMIM:608934 skos:exactMatch HGNC_symbol:NEIL3 Unspecified NEIL3 +OMIM:608934 skos:exactMatch HGNC:24573 Unspecified NEIL3 +OMIM:608933 skos:exactMatch HGNC:18956 Unspecified NEIL2 +OMIM:608933 skos:exactMatch UMLS:C1425924 Unspecified NEIL2 +OMIM:608933 skos:exactMatch HGNC_symbol:NEIL2 Unspecified NEIL2 +OMIM:608939 skos:exactMatch HGNC:10437 Unspecified RPS6KB2 +OMIM:608939 skos:exactMatch HGNC_symbol:RPS6KB2 Unspecified RPS6KB2 +OMIM:608939 skos:exactMatch UMLS:C1335645 Unspecified RPS6KB2 +OMIM:608938 skos:exactMatch HGNC:10436 Unspecified RPS6KB1 +OMIM:608938 skos:exactMatch HGNC_symbol:RPS6KB1 Unspecified RPS6KB1 +OMIM:608938 skos:exactMatch UMLS:C1419748 Unspecified RPS6KB1 +OMIM:608937 skos:exactMatch HGNC_symbol:SH2B1 Unspecified SH2B1 +OMIM:608937 skos:exactMatch UMLS:C1822703 Unspecified SH2B1 +OMIM:608937 skos:exactMatch HGNC:30417 Unspecified SH2B1 +OMIM:104650 skos:exactMatch HGNC_symbol:AMY2A Unspecified AMY2A +OMIM:104650 skos:exactMatch UMLS:C1412394 Unspecified AMY2A +OMIM:104650 skos:exactMatch HGNC:477 Unspecified AMY2A +OMIM:608943 skos:exactMatch UMLS:C1538464 Unspecified CIAPIN1 +OMIM:608943 skos:exactMatch HGNC_symbol:CIAPIN1 Unspecified CIAPIN1 +OMIM:608943 skos:exactMatch HGNC:28050 Unspecified CIAPIN1 +OMIM:608942 skos:exactMatch HGNC_symbol:DYNLL2 Unspecified DYNLL2 +OMIM:608942 skos:exactMatch HGNC:24596 Unspecified DYNLL2 +OMIM:608942 skos:exactMatch UMLS:C1825015 Unspecified DYNLL2 +OMIM:608941 skos:exactMatch HGNC:4405 Unspecified GNG3 +OMIM:608941 skos:exactMatch HGNC_symbol:GNG3 Unspecified GNG3 +OMIM:608941 skos:exactMatch UMLS:C1415156 Unspecified GNG3 +OMIM:608940 skos:exactMatch UMLS:C1837073 Unspecified spondylometaphyseal dysplasia with cone-rod dystrophy +OMIM:608925 skos:exactMatch HGNC:19888 Unspecified MMRN2 +OMIM:608925 skos:exactMatch UMLS:C1426507 Unspecified MMRN2 +OMIM:608925 skos:exactMatch HGNC_symbol:MMRN2 Unspecified MMRN2 +OMIM:608924 skos:exactMatch UMLS:C1427156 Unspecified FOXP4 +OMIM:608924 skos:exactMatch HGNC:20842 Unspecified FOXP4 +OMIM:608924 skos:exactMatch HGNC_symbol:FOXP4 Unspecified FOXP4 +OMIM:608923 skos:exactMatch HGNC:20978 Unspecified TAAR6 +OMIM:608923 skos:exactMatch HGNC_symbol:TAAR6 Unspecified TAAR6 +OMIM:608923 skos:exactMatch UMLS:C1539913 Unspecified TAAR6 +OMIM:608922 skos:exactMatch UMLS:C1824213 Unspecified ARL13B +OMIM:608922 skos:exactMatch HGNC:25419 Unspecified ARL13B +OMIM:608922 skos:exactMatch HGNC_symbol:ARL13B Unspecified ARL13B +OMIM:608922 skos:exactMatch UMLS:C2676771 Unspecified ARL13B +OMIM:608929 skos:exactMatch HGNC:16123 Unspecified EMILIN3 +OMIM:608929 skos:exactMatch HGNC_symbol:EMILIN3 Unspecified EMILIN3 +OMIM:608929 skos:exactMatch UMLS:C1424003 Unspecified EMILIN3 +OMIM:608928 skos:exactMatch HGNC:19881 Unspecified EMILIN2 +OMIM:608928 skos:exactMatch UMLS:C1426503 Unspecified EMILIN2 +OMIM:608928 skos:exactMatch HGNC_symbol:EMILIN2 Unspecified EMILIN2 +OMIM:608927 skos:exactMatch HGNC:18038 Unspecified EMID2 +OMIM:608927 skos:exactMatch UMLS:C1425258 Unspecified EMID2 +OMIM:608927 skos:exactMatch HGNC_symbol:COL26A1 Unspecified EMID2 +OMIM:608926 skos:exactMatch HGNC:18036 Unspecified EMID1 +OMIM:608926 skos:exactMatch HGNC_symbol:EMID1 Unspecified EMID1 +OMIM:608926 skos:exactMatch UMLS:C1425256 Unspecified EMID1 +OMIM:273390 skos:exactMatch UMLS:C2931214 Unspecified tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities +OMIM:273395 skos:exactMatch UMLS:C4012268 Unspecified tetraamelia syndrome 1 +OMIM:104660 skos:exactMatch UMLS:C1412395 Unspecified AMY2B +OMIM:104660 skos:exactMatch HGNC:478 Unspecified AMY2B +OMIM:104660 skos:exactMatch HGNC_symbol:AMY2B Unspecified AMY2B +OMIM:102000 skos:exactMatch UMLS:C1863342 Unspecified acroleukopathy, symmetric +OMIM:608932 skos:exactMatch UMLS:C1837090 Unspecified keratoconus 2 +OMIM:608931 skos:exactMatch ORPHA:590 Unspecified myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency +OMIM:608931 skos:exactMatch ORPHA:98913 Unspecified myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency +OMIM:608931 skos:exactMatch UMLS:C1837091 Unspecified myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency +OMIM:608930 skos:exactMatch UMLS:C4225405 Unspecified myasthenic syndrome, congenital, 1b, fast-channel +OMIM:608914 skos:exactMatch UMLS:C1837146 Unspecified POTEE +OMIM:608914 skos:exactMatch HGNC:33895 Unspecified POTEE +OMIM:608914 skos:exactMatch HGNC_symbol:POTEE Unspecified POTEE +OMIM:608913 skos:exactMatch HGNC:133 Unspecified POTEH +OMIM:608913 skos:exactMatch UMLS:C1412138 Unspecified POTEH +OMIM:608913 skos:exactMatch HGNC_symbol:POTEH Unspecified POTEH +OMIM:608912 skos:exactMatch UMLS:C1837147 Unspecified POTEB +OMIM:608912 skos:exactMatch HGNC:33734 Unspecified POTEB +OMIM:608912 skos:exactMatch HGNC_symbol:POTEB Unspecified POTEB +OMIM:608911 skos:exactMatch UMLS:C0220723 Unspecified choanal atresia, posterior +OMIM:608918 skos:exactMatch HGNC:18802 Unspecified ATPAF2 +OMIM:608918 skos:exactMatch HGNC_symbol:ATPAF2 Unspecified ATPAF2 +OMIM:608918 skos:exactMatch UMLS:C1425786 Unspecified ATPAF2 +OMIM:608917 skos:exactMatch HGNC:18803 Unspecified ATPAF1 +OMIM:608917 skos:exactMatch HGNC_symbol:ATPAF1 Unspecified ATPAF1 +OMIM:608917 skos:exactMatch UMLS:C1425787 Unspecified ATPAF1 +OMIM:608916 skos:exactMatch UMLS:C1837144 Unspecified POTEG +OMIM:608916 skos:exactMatch HGNC:33896 Unspecified POTEG +OMIM:608916 skos:exactMatch HGNC_symbol:POTEG Unspecified POTEG +OMIM:608915 skos:exactMatch UMLS:C1837145 Unspecified POTEA +OMIM:608915 skos:exactMatch HGNC:33893 Unspecified POTEA +OMIM:608915 skos:exactMatch HGNC_symbol:POTEA Unspecified POTEA +OMIM:608919 skos:exactMatch HGNC:22222 Unspecified TTYH3 +OMIM:608919 skos:exactMatch HGNC_symbol:TTYH3 Unspecified TTYH3 +OMIM:608919 skos:exactMatch UMLS:C1427764 Unspecified TTYH3 +OMIM:128600 skos:exactMatch UMLS:C0266589 Unspecified ear malformation +OMIM:608921 skos:exactMatch HGNC:21043 Unspecified PITPNM3 +OMIM:608921 skos:exactMatch UMLS:C1427269 Unspecified PITPNM3 +OMIM:608921 skos:exactMatch HGNC_symbol:PITPNM3 Unspecified PITPNM3 +OMIM:608920 skos:exactMatch UMLS:C1427270 Unspecified PITPNM2 +OMIM:608920 skos:exactMatch HGNC_symbol:PITPNM2 Unspecified PITPNM2 +OMIM:608920 skos:exactMatch HGNC:21044 Unspecified PITPNM2 +OMIM:608903 skos:exactMatch UMLS:C1837153 Unspecified attention deficit-hyperactivity disorder, susceptibility to, 1 +OMIM:608902 skos:exactMatch UMLS:C1837160 Unspecified drug metabolism, poor, cyp2d6-related +OMIM:608902 skos:exactMatch UMLS:C1837157 Unspecified drug metabolism, poor, cyp2d6-related +OMIM:608902 skos:exactMatch UMLS:C1837158 Unspecified drug metabolism, poor, cyp2d6-related +OMIM:608902 skos:exactMatch UMLS:C1837159 Unspecified drug metabolism, poor, cyp2d6-related +OMIM:608902 skos:exactMatch UMLS:C1837154 Unspecified drug metabolism, poor, cyp2d6-related +OMIM:608902 skos:exactMatch UMLS:C1837155 Unspecified drug metabolism, poor, cyp2d6-related +OMIM:608902 skos:exactMatch UMLS:C1837156 Unspecified drug metabolism, poor, cyp2d6-related +OMIM:608901 skos:exactMatch UMLS:C1837173 Unspecified coronary heart disease, susceptibility to, 5 +OMIM:608900 skos:exactMatch UMLS:C1825427 Unspecified None +OMIM:608900 skos:exactMatch HGNC:33125 Unspecified None +OMIM:608900 skos:exactMatch HGNC_symbol:GTF2IRD2B Unspecified None +OMIM:608907 skos:exactMatch UMLS:C4282179 Unspecified alzheimer disease 9, susceptibility to +OMIM:608907 skos:exactMatch UMLS:C1837149 Unspecified alzheimer disease 9, susceptibility to +OMIM:608906 skos:exactMatch UMLS:C1837150 Unspecified attention deficit-hyperactivity disorder, susceptibility to, 4 +OMIM:608905 skos:exactMatch UMLS:C1837151 Unspecified attention deficit-hyperactivity disorder, susceptibility to, 3 +OMIM:608904 skos:exactMatch UMLS:C1837152 Unspecified attention deficit-hyperactivity disorder, susceptibility to, 2 +OMIM:608909 skos:exactMatch HGNC:23052 Unspecified ARL5B +OMIM:608909 skos:exactMatch UMLS:C1824206 Unspecified ARL5B +OMIM:608909 skos:exactMatch HGNC_symbol:ARL5B Unspecified ARL5B +OMIM:608908 skos:exactMatch UMLS:C1837148 Unspecified myopia 6 +OMIM:104640 skos:exactMatch HGNC:651 Unspecified AREG +OMIM:104640 skos:exactMatch UMLS:C1332109 Unspecified AREG +OMIM:104640 skos:exactMatch HGNC_symbol:AREG Unspecified AREG +OMIM:608910 skos:exactMatch HGNC_symbol:CTAGE4 Unspecified CTAGE4 +OMIM:608910 skos:exactMatch UMLS:C1539147 Unspecified CTAGE4 +OMIM:608910 skos:exactMatch HGNC:24772 Unspecified CTAGE4 +OMIM:606438 skos:exactMatch UMLS:C1847987 Unspecified huntington disease-like 2 +OMIM:606439 skos:exactMatch HGNC:11231 Unspecified ATL1 +OMIM:606439 skos:exactMatch HGNC_symbol:ATL1 Unspecified ATL1 +OMIM:606439 skos:exactMatch UMLS:C1420348 Unspecified ATL1 +OMIM:606436 skos:exactMatch UMLS:C1425486 Unspecified SYT12 +OMIM:606436 skos:exactMatch HGNC:18381 Unspecified SYT12 +OMIM:606436 skos:exactMatch HGNC_symbol:SYT12 Unspecified SYT12 +OMIM:618421 skos:exactMatch HGNC_symbol:REC114 Unspecified REC114 +OMIM:618421 skos:exactMatch UMLS:C2681290 Unspecified REC114 +OMIM:618421 skos:exactMatch HGNC:25065 Unspecified REC114 +OMIM:618420 skos:exactMatch UMLS:C5193086 Unspecified spermatogenic failure 36 +OMIM:618423 skos:exactMatch HGNC:26853 Unspecified ANKRD31 +OMIM:618423 skos:exactMatch UMLS:C1538289 Unspecified ANKRD31 +OMIM:618423 skos:exactMatch HGNC_symbol:ANKRD31 Unspecified ANKRD31 +OMIM:618422 skos:exactMatch ORPHA:90636 Unspecified deafness, autosomal recessive 100 +OMIM:618422 skos:exactMatch UMLS:C5193087 Unspecified deafness, autosomal recessive 100 +OMIM:618425 skos:exactMatch UMLS:C5193088 Unspecified neurodevelopmental disorder with impaired speech and hyperkinetic movements +OMIM:618424 skos:exactMatch HGNC_symbol:ARMC2 Unspecified ARMC2 +OMIM:618424 skos:exactMatch HGNC:23045 Unspecified ARMC2 +OMIM:618424 skos:exactMatch UMLS:C1427872 Unspecified ARMC2 +OMIM:118900 skos:exactMatch UMLS:C1861556 Unspecified cirrhosis, familial +OMIM:618416 skos:exactMatch UMLS:C5193083 Unspecified metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression +OMIM:618415 skos:exactMatch UMLS:C5193082 Unspecified cataract 48 +OMIM:618418 skos:exactMatch UMLS:C5193084 Unspecified spastic paraplegia 80, autosomal dominant +OMIM:618417 skos:exactMatch HGNC:43638 Unspecified MEI4 +OMIM:618417 skos:exactMatch UMLS:C3544029 Unspecified MEI4 +OMIM:618417 skos:exactMatch HGNC_symbol:MEI4 Unspecified MEI4 +OMIM:618419 skos:exactMatch UMLS:C5193085 Unspecified gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy +OMIM:273120 skos:exactMatch UMLS:C1848902 Unspecified teratoma, pineal +OMIM:606441 skos:exactMatch UMLS:C1825553 Unspecified HTRA2 +OMIM:606441 skos:exactMatch HGNC_symbol:HTRA2 Unspecified HTRA2 +OMIM:606441 skos:exactMatch HGNC:14348 Unspecified HTRA2 +OMIM:606442 skos:exactMatch UMLS:C1332005 Unspecified ABI2 +OMIM:606442 skos:exactMatch HGNC:24011 Unspecified ABI2 +OMIM:606442 skos:exactMatch HGNC_symbol:ABI2 Unspecified ABI2 +OMIM:606440 skos:exactMatch HGNC_symbol:STRC Unspecified STRC +OMIM:606440 skos:exactMatch UMLS:C1423927 Unspecified STRC +OMIM:606440 skos:exactMatch HGNC:16035 Unspecified STRC +OMIM:606445 skos:exactMatch UMLS:C1847973 Unspecified persistent polyclonal b-cell lymphocytosis +OMIM:606446 skos:exactMatch HGNC_symbol:SLAMF6 Unspecified SLAMF6 +OMIM:606446 skos:exactMatch HGNC:21392 Unspecified SLAMF6 +OMIM:606446 skos:exactMatch UMLS:C1427537 Unspecified SLAMF6 +OMIM:606443 skos:exactMatch UMLS:C1413703 Unspecified CREB3 +OMIM:606443 skos:exactMatch HGNC_symbol:CREB3 Unspecified CREB3 +OMIM:606443 skos:exactMatch HGNC:2347 Unspecified CREB3 +OMIM:606444 skos:exactMatch HGNC_symbol:CREBZF Unspecified CREBZF +OMIM:606444 skos:exactMatch HGNC:24905 Unspecified CREBZF +OMIM:606444 skos:exactMatch UMLS:C1824789 Unspecified CREBZF +OMIM:606427 skos:exactMatch HGNC:13842 Unspecified ZNF320 +OMIM:606427 skos:exactMatch UMLS:C1422228 Unspecified ZNF320 +OMIM:606427 skos:exactMatch HGNC_symbol:ZNF320 Unspecified ZNF320 +OMIM:606428 skos:exactMatch HGNC_symbol:UGT1A3 Unspecified UGT1A3 +OMIM:606428 skos:exactMatch HGNC:12535 Unspecified UGT1A3 +OMIM:606428 skos:exactMatch UMLS:C1421327 Unspecified UGT1A3 +OMIM:606425 skos:exactMatch UMLS:C1836778 Unspecified EGLN1 +OMIM:606425 skos:exactMatch UMLS:C1412925 Unspecified EGLN1 +OMIM:606425 skos:exactMatch HGNC_symbol:EGLN1 Unspecified EGLN1 +OMIM:606425 skos:exactMatch UMLS:C1853286 Unspecified EGLN1 +OMIM:606425 skos:exactMatch HGNC:1232 Unspecified EGLN1 +OMIM:606426 skos:exactMatch HGNC:14661 Unspecified EGLN3 +OMIM:606426 skos:exactMatch HGNC_symbol:EGLN3 Unspecified EGLN3 +OMIM:606426 skos:exactMatch UMLS:C1422820 Unspecified EGLN3 +OMIM:606429 skos:exactMatch HGNC_symbol:UGT1A4 Unspecified UGT1A4 +OMIM:606429 skos:exactMatch HGNC:12536 Unspecified UGT1A4 +OMIM:606429 skos:exactMatch UMLS:C1421328 Unspecified UGT1A4 +OMIM:618410 skos:exactMatch UMLS:C5193079 Unspecified deafness, autosomal recessive 113 +OMIM:618412 skos:exactMatch UMLS:C5193080 Unspecified global developmental delay, progressive ataxia, and elevated glutamine +OMIM:618411 skos:exactMatch UMLS:C1424772 Unspecified FTSJ3 +OMIM:618411 skos:exactMatch HGNC_symbol:FTSJ3 Unspecified FTSJ3 +OMIM:618411 skos:exactMatch HGNC:17136 Unspecified FTSJ3 +OMIM:618414 skos:exactMatch UMLS:C5193081 Unspecified myopathy, congenital, with fast-twitch (type ii) fiber atrophy +OMIM:618413 skos:exactMatch UMLS:C2239438 Unspecified FAM149B1 +OMIM:618413 skos:exactMatch HGNC_symbol:FAM149B1 Unspecified FAM149B1 +OMIM:618413 skos:exactMatch UMLS:C5231493 Unspecified FAM149B1 +OMIM:618413 skos:exactMatch HGNC:29162 Unspecified FAM149B1 +OMIM:618405 skos:exactMatch HGNC_symbol:ZNF717 Unspecified ZNF717 +OMIM:618405 skos:exactMatch HGNC:29448 Unspecified ZNF717 +OMIM:618405 skos:exactMatch UMLS:C1824019 Unspecified ZNF717 +OMIM:618404 skos:exactMatch UMLS:C5193078 Unspecified leukodystrophy, hypomyelinating, 18 +OMIM:618407 skos:exactMatch HGNC:25648 Unspecified MINDY1 +OMIM:618407 skos:exactMatch UMLS:C1539474 Unspecified MINDY1 +OMIM:618407 skos:exactMatch HGNC_symbol:MINDY1 Unspecified MINDY1 +OMIM:618406 skos:exactMatch UMLS:C4054546 Unspecified body mass index quantitative trait locus 20 +OMIM:618406 skos:exactMatch UMLS:C4759928 Unspecified body mass index quantitative trait locus 20 +OMIM:618406 skos:exactMatch ORPHA:71529 Unspecified body mass index quantitative trait locus 20 +OMIM:618409 skos:exactMatch HGNC:16372 Unspecified FAM8A1 +OMIM:618409 skos:exactMatch UMLS:C1424224 Unspecified FAM8A1 +OMIM:618409 skos:exactMatch HGNC_symbol:FAM8A1 Unspecified FAM8A1 +OMIM:618408 skos:exactMatch HGNC_symbol:MINDY2 Unspecified MINDY2 +OMIM:618408 skos:exactMatch HGNC:26954 Unspecified MINDY2 +OMIM:618408 skos:exactMatch UMLS:C1539475 Unspecified MINDY2 +OMIM:606430 skos:exactMatch HGNC:12537 Unspecified UGT1A5 +OMIM:606430 skos:exactMatch UMLS:C1421329 Unspecified UGT1A5 +OMIM:606430 skos:exactMatch HGNC_symbol:UGT1A5 Unspecified UGT1A5 +OMIM:606431 skos:exactMatch HGNC:12538 Unspecified UGT1A6 +OMIM:606431 skos:exactMatch UMLS:C1421330 Unspecified UGT1A6 +OMIM:606431 skos:exactMatch HGNC_symbol:UGT1A6 Unspecified UGT1A6 +OMIM:606434 skos:exactMatch HGNC:12541 Unspecified UGT1A9 +OMIM:606434 skos:exactMatch UMLS:C1421333 Unspecified UGT1A9 +OMIM:606434 skos:exactMatch HGNC_symbol:UGT1A9 Unspecified UGT1A9 +OMIM:606435 skos:exactMatch HGNC_symbol:UGT1A10 Unspecified UGT1A10 +OMIM:606435 skos:exactMatch HGNC:12531 Unspecified UGT1A10 +OMIM:606435 skos:exactMatch UMLS:C1421323 Unspecified UGT1A10 +OMIM:606432 skos:exactMatch HGNC:12539 Unspecified UGT1A7 +OMIM:606432 skos:exactMatch UMLS:C1421331 Unspecified UGT1A7 +OMIM:606432 skos:exactMatch HGNC_symbol:UGT1A7 Unspecified UGT1A7 +OMIM:307000 skos:exactMatch UMLS:C0265216 Unspecified hydrocephalus due to congenital stenosis of aqueduct of sylvius +OMIM:307000 skos:exactMatch UMLS:C1844006 Unspecified hydrocephalus due to congenital stenosis of aqueduct of sylvius +OMIM:606433 skos:exactMatch HGNC:12540 Unspecified UGT1A8 +OMIM:606433 skos:exactMatch UMLS:C1421332 Unspecified UGT1A8 +OMIM:606433 skos:exactMatch HGNC_symbol:UGT1A8 Unspecified UGT1A8 +OMIM:606416 skos:exactMatch HGNC:16400 Unspecified NLRP3 +OMIM:606416 skos:exactMatch HGNC_symbol:NLRP3 Unspecified NLRP3 +OMIM:606416 skos:exactMatch UMLS:C1835697 Unspecified NLRP3 +OMIM:606416 skos:exactMatch UMLS:C0268390 Unspecified NLRP3 +OMIM:606416 skos:exactMatch UMLS:C0409818 Unspecified NLRP3 +OMIM:606416 skos:exactMatch UMLS:C1424250 Unspecified NLRP3 +OMIM:606416 skos:exactMatch UMLS:C4551895 Unspecified NLRP3 +OMIM:606416 skos:exactMatch UMLS:C4521680 Unspecified NLRP3 +OMIM:606417 skos:exactMatch UMLS:C1823190 Unspecified WDR11 +OMIM:606417 skos:exactMatch HGNC:13831 Unspecified WDR11 +OMIM:606417 skos:exactMatch HGNC_symbol:WDR11 Unspecified WDR11 +OMIM:606414 skos:exactMatch HGNC_symbol:INSL6 Unspecified INSL6 +OMIM:606414 skos:exactMatch HGNC:6089 Unspecified INSL6 +OMIM:606414 skos:exactMatch UMLS:C1416456 Unspecified INSL6 +OMIM:606418 skos:exactMatch HGNC:2859 Unspecified DHCR24 +OMIM:606418 skos:exactMatch UMLS:C1414039 Unspecified DHCR24 +OMIM:606418 skos:exactMatch HGNC_symbol:DHCR24 Unspecified DHCR24 +OMIM:606419 skos:exactMatch HGNC:15446 Unspecified PRPF31 +OMIM:606419 skos:exactMatch HGNC_symbol:PRPF31 Unspecified PRPF31 +OMIM:606419 skos:exactMatch UMLS:C1423492 Unspecified PRPF31 +OMIM:618401 skos:exactMatch HGNC:27963 Unspecified FAM170A +OMIM:618401 skos:exactMatch UMLS:C2681500 Unspecified FAM170A +OMIM:618401 skos:exactMatch HGNC_symbol:FAM170A Unspecified FAM170A +OMIM:131900 skos:exactMatch UMLS:C0079299 Unspecified epidermolysis bullosa simplex 1b, generalized intermediate +OMIM:618400 skos:exactMatch UMLS:C5193076 Unspecified charcot-marie-tooth disease, axonal, iia 2ee +OMIM:618403 skos:exactMatch HGNC:26224 Unspecified FAM124B +OMIM:618403 skos:exactMatch HGNC_symbol:FAM124B Unspecified FAM124B +OMIM:618403 skos:exactMatch UMLS:C1825265 Unspecified FAM124B +OMIM:618402 skos:exactMatch ORPHA:88616 Unspecified intellectual developmental disorder, autosomal recessive 70 +OMIM:618402 skos:exactMatch UMLS:C5193077 Unspecified intellectual developmental disorder, autosomal recessive 70 +OMIM:606420 skos:exactMatch UMLS:C1424154 Unspecified ELMO1 +OMIM:606420 skos:exactMatch HGNC:16286 Unspecified ELMO1 +OMIM:606420 skos:exactMatch HGNC_symbol:ELMO1 Unspecified ELMO1 +OMIM:309630 skos:exactMatch UMLS:C1839728 Unspecified metacarpal 4-5 fusion +OMIM:606423 skos:exactMatch HGNC:15760 Unspecified DIRC1 +OMIM:606423 skos:exactMatch HGNC_symbol:DIRC1 Unspecified DIRC1 +OMIM:606423 skos:exactMatch UMLS:C1423709 Unspecified DIRC1 +OMIM:606424 skos:exactMatch HGNC:14660 Unspecified EGLN2 +OMIM:606424 skos:exactMatch HGNC_symbol:EGLN2 Unspecified EGLN2 +OMIM:606424 skos:exactMatch UMLS:C1422819 Unspecified EGLN2 +OMIM:606421 skos:exactMatch UMLS:C1847197 Unspecified ELMO2 +OMIM:606421 skos:exactMatch HGNC_symbol:ELMO2 Unspecified ELMO2 +OMIM:606421 skos:exactMatch UMLS:C1424843 Unspecified ELMO2 +OMIM:606421 skos:exactMatch HGNC:17233 Unspecified ELMO2 +OMIM:606422 skos:exactMatch HGNC_symbol:ELMO3 Unspecified ELMO3 +OMIM:606422 skos:exactMatch UMLS:C1424879 Unspecified ELMO3 +OMIM:606422 skos:exactMatch HGNC:17289 Unspecified ELMO3 +OMIM:606405 skos:exactMatch HGNC:1409 Unspecified CACNG5 +OMIM:606405 skos:exactMatch UMLS:C1413075 Unspecified CACNG5 +OMIM:606405 skos:exactMatch HGNC_symbol:CACNG5 Unspecified CACNG5 +OMIM:606406 skos:exactMatch UMLS:C1417785 Unspecified NPIP +OMIM:606406 skos:exactMatch HGNC_symbol:NPIPA1 Unspecified NPIP +OMIM:606406 skos:exactMatch HGNC:7909 Unspecified NPIP +OMIM:606403 skos:exactMatch HGNC:1407 Unspecified CACNG3 +OMIM:606403 skos:exactMatch HGNC_symbol:CACNG3 Unspecified CACNG3 +OMIM:606403 skos:exactMatch UMLS:C1413073 Unspecified CACNG3 +OMIM:606404 skos:exactMatch HGNC_symbol:CACNG4 Unspecified CACNG4 +OMIM:606404 skos:exactMatch HGNC:1408 Unspecified CACNG4 +OMIM:606404 skos:exactMatch UMLS:C1413074 Unspecified CACNG4 +OMIM:606409 skos:exactMatch HGNC_symbol:ITCH Unspecified ITCH +OMIM:606409 skos:exactMatch UMLS:C3150649 Unspecified ITCH +OMIM:606409 skos:exactMatch HGNC:13890 Unspecified ITCH +OMIM:606409 skos:exactMatch UMLS:C1422257 Unspecified ITCH +OMIM:606407 skos:exactMatch ORPHA:163690 Unspecified hypotonia-cystinuria syndrome +OMIM:606407 skos:exactMatch ORPHA:163693 Unspecified hypotonia-cystinuria syndrome +OMIM:606407 skos:exactMatch UMLS:C1848030 Unspecified hypotonia-cystinuria syndrome +OMIM:606407 skos:exactMatch ORPHA:238523 Unspecified hypotonia-cystinuria syndrome +OMIM:606408 skos:exactMatch UMLS:C1848029 Unspecified ehlers-danlos syndrome, classic-like +OMIM:606412 skos:exactMatch HGNC:16512 Unspecified BSND +OMIM:606412 skos:exactMatch UMLS:C1424344 Unspecified BSND +OMIM:606412 skos:exactMatch HGNC_symbol:BSND Unspecified BSND +OMIM:606413 skos:exactMatch HGNC_symbol:INSL5 Unspecified INSL5 +OMIM:606413 skos:exactMatch HGNC:6088 Unspecified INSL5 +OMIM:606413 skos:exactMatch UMLS:C1416455 Unspecified INSL5 +OMIM:106900 skos:exactMatch UMLS:C1862843 Unspecified anonychia-ectrodactyly +OMIM:606410 skos:exactMatch HGNC_symbol:ANTXR1 Unspecified ANTXR1 +OMIM:606410 skos:exactMatch HGNC:21014 Unspecified ANTXR1 +OMIM:606410 skos:exactMatch UMLS:C1427242 Unspecified ANTXR1 +OMIM:309640 skos:exactMatch UMLS:C1839727 Unspecified mental retardation with spastic paraplegia +OMIM:606411 skos:exactMatch HGNC:14430 Unspecified SLC13A3 +OMIM:606411 skos:exactMatch UMLS:C5193068 Unspecified SLC13A3 +OMIM:606411 skos:exactMatch HGNC_symbol:SLC13A3 Unspecified SLC13A3 +OMIM:606411 skos:exactMatch UMLS:C1422640 Unspecified SLC13A3 +OMIM:618461 skos:exactMatch UMLS:C4320593 Unspecified NDUFAF8 +OMIM:618461 skos:exactMatch HGNC:33551 Unspecified NDUFAF8 +OMIM:618461 skos:exactMatch UMLS:C5394053 Unspecified NDUFAF8 +OMIM:618461 skos:exactMatch HGNC_symbol:NDUFAF8 Unspecified NDUFAF8 +OMIM:618460 skos:exactMatch UMLS:C5193110 Unspecified khan-khan-katsanis syndrome +OMIM:261100 skos:exactMatch UMLS:C4016819 Unspecified imerslund-grasbeck syndrome 1 +OMIM:261100 skos:exactMatch ORPHA:35858 Unspecified imerslund-grasbeck syndrome 1 +OMIM:261100 skos:exactMatch UMLS:C4551825 Unspecified imerslund-grasbeck syndrome 1 +OMIM:618462 skos:exactMatch UMLS:C5193111 Unspecified bleeding disorder, platelet-type, 22 +OMIM:618465 skos:exactMatch UMLS:C1428523 Unspecified BRD9 +OMIM:618465 skos:exactMatch HGNC_symbol:BRD9 Unspecified BRD9 +OMIM:618465 skos:exactMatch HGNC:25818 Unspecified BRD9 +OMIM:618464 skos:exactMatch UMLS:C5193112 Unspecified paragangliomas 6 +OMIM:618467 skos:exactMatch HGNC_symbol:SLF1 Unspecified SLF1 +OMIM:618467 skos:exactMatch HGNC:25408 Unspecified SLF1 +OMIM:618467 skos:exactMatch UMLS:C1538290 Unspecified SLF1 +OMIM:618466 skos:exactMatch UMLS:C1538972 Unspecified BRIX1 +OMIM:618466 skos:exactMatch HGNC_symbol:BRIX1 Unspecified BRIX1 +OMIM:618466 skos:exactMatch HGNC:24170 Unspecified BRIX1 +OMIM:618469 skos:exactMatch ORPHA:2990 Unspecified contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b +OMIM:618469 skos:exactMatch UMLS:C5193114 Unspecified contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b +OMIM:618468 skos:exactMatch UMLS:C5193113 Unspecified developmental and epileptic encephalopathy 76 +OMIM:618468 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 76 +OMIM:618459 skos:exactMatch UMLS:C5193109 Unspecified immunodeficiency 62 +OMIM:606481 skos:exactMatch HGNC_symbol:INPP5J Unspecified PIB5PA +OMIM:606481 skos:exactMatch HGNC:8956 Unspecified PIB5PA +OMIM:606481 skos:exactMatch UMLS:C1418557 Unspecified PIB5PA +OMIM:606482 skos:exactMatch UMLS:C1847903 Unspecified charcot-marie-tooth disease, dominant intermediate B +OMIM:606482 skos:exactMatch UMLS:C1847902 Unspecified charcot-marie-tooth disease, dominant intermediate B +OMIM:606480 skos:exactMatch HGNC_symbol:ZMPSTE24 Unspecified ZMPSTE24 +OMIM:606480 skos:exactMatch HGNC:12877 Unspecified ZMPSTE24 +OMIM:606480 skos:exactMatch UMLS:C1421586 Unspecified ZMPSTE24 +OMIM:606485 skos:exactMatch HGNC:14862 Unspecified POLR2M +OMIM:606485 skos:exactMatch HGNC_symbol:POLR2M Unspecified POLR2M +OMIM:606485 skos:exactMatch UMLS:C1423006 Unspecified POLR2M +OMIM:606486 skos:exactMatch HGNC_symbol:CHMP1B Unspecified CHMP1B +OMIM:606486 skos:exactMatch HGNC:24287 Unspecified CHMP1B +OMIM:606486 skos:exactMatch UMLS:C1538454 Unspecified CHMP1B +OMIM:606483 skos:exactMatch UMLS:C1847896 Unspecified charcot-marie-tooth disease, axonal, iia 2gg +OMIM:606484 skos:exactMatch HGNC:15667 Unspecified MTPN +OMIM:606484 skos:exactMatch HGNC_symbol:MTPN Unspecified MTPN +OMIM:606484 skos:exactMatch UMLS:C1423644 Unspecified MTPN +OMIM:606489 skos:exactMatch HGNC:17944 Unspecified EXOSC3 +OMIM:606489 skos:exactMatch UMLS:C1425194 Unspecified EXOSC3 +OMIM:606489 skos:exactMatch HGNC_symbol:EXOSC3 Unspecified EXOSC3 +OMIM:307030 skos:exactMatch UMLS:C0268418 Unspecified glycerol kinase deficiency +OMIM:606487 skos:exactMatch HGNC_symbol:PLAAT1 Unspecified PLAAT1 +OMIM:606487 skos:exactMatch UMLS:C1423056 Unspecified PLAAT1 +OMIM:606487 skos:exactMatch HGNC:14922 Unspecified PLAAT1 +OMIM:606488 skos:exactMatch UMLS:C1428669 Unspecified EXOSC7 +OMIM:606488 skos:exactMatch HGNC:28112 Unspecified EXOSC7 +OMIM:606488 skos:exactMatch HGNC_symbol:EXOSC7 Unspecified EXOSC7 +OMIM:606469 skos:exactMatch UMLS:C1540061 Unspecified RNF29 +OMIM:606469 skos:exactMatch HGNC_symbol:TRIM55 Unspecified RNF29 +OMIM:606469 skos:exactMatch HGNC:14215 Unspecified RNF29 +OMIM:618450 skos:exactMatch HGNC:19364 Unspecified RTKN2 +OMIM:618450 skos:exactMatch HGNC_symbol:RTKN2 Unspecified RTKN2 +OMIM:618450 skos:exactMatch UMLS:C1426192 Unspecified RTKN2 +OMIM:236130 skos:exactMatch UMLS:C0268632 Unspecified homocarnosinosis +OMIM:618452 skos:exactMatch HGNC:19236 Unspecified PLEKHB2 +OMIM:618452 skos:exactMatch UMLS:C1426103 Unspecified PLEKHB2 +OMIM:618452 skos:exactMatch HGNC_symbol:PLEKHB2 Unspecified PLEKHB2 +OMIM:618451 skos:exactMatch UMLS:C5193104 Unspecified neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +OMIM:618454 skos:exactMatch UMLS:C5193106 Unspecified developmental delay with or without dysmorphic facies and autism +OMIM:263750 skos:exactMatch UMLS:C0265257 Unspecified postaxial acrofacial dysostosis +OMIM:618453 skos:exactMatch UMLS:C5193105 Unspecified intellectual developmental disorder with short stature and variable skeletal anomalies +OMIM:618456 skos:exactMatch UMLS:C5193107 Unspecified deafness, autosomal recessive 114 +OMIM:618455 skos:exactMatch UMLS:C1539663 Unspecified HEPHL1 +OMIM:618455 skos:exactMatch HGNC_symbol:HEPHL1 Unspecified HEPHL1 +OMIM:618455 skos:exactMatch HGNC:30477 Unspecified HEPHL1 +OMIM:618457 skos:exactMatch UMLS:C5193108 Unspecified deafness, autosomal recessive 115 +OMIM:618449 skos:exactMatch UMLS:C5193103 Unspecified ciliary dyskinesia, primary, 41 +OMIM:618448 skos:exactMatch HGNC_symbol:GPR139 Unspecified GPR139 +OMIM:618448 skos:exactMatch UMLS:C1539604 Unspecified GPR139 +OMIM:618448 skos:exactMatch HGNC:19995 Unspecified GPR139 +OMIM:606470 skos:exactMatch HGNC_symbol:NHP2 Unspecified NHP2 +OMIM:606470 skos:exactMatch HGNC:14377 Unspecified NHP2 +OMIM:606470 skos:exactMatch UMLS:C1422601 Unspecified NHP2 +OMIM:606471 skos:exactMatch HGNC:14378 Unspecified NOP10 +OMIM:606471 skos:exactMatch HGNC_symbol:NOP10 Unspecified NOP10 +OMIM:606471 skos:exactMatch UMLS:C1422602 Unspecified NOP10 +OMIM:606474 skos:exactMatch UMLS:C1540060 Unspecified RNF30 +OMIM:606474 skos:exactMatch HGNC:16008 Unspecified RNF30 +OMIM:606474 skos:exactMatch HGNC_symbol:TRIM54 Unspecified RNF30 +OMIM:606475 skos:exactMatch HGNC_symbol:CD320 Unspecified CD320 +OMIM:606475 skos:exactMatch UMLS:C1540297 Unspecified CD320 +OMIM:606475 skos:exactMatch HGNC:16692 Unspecified CD320 +OMIM:606472 skos:exactMatch HGNC:15592 Unspecified SS18L1 +OMIM:606472 skos:exactMatch HGNC_symbol:SS18L1 Unspecified SS18L1 +OMIM:606472 skos:exactMatch UMLS:C1423601 Unspecified SS18L1 +OMIM:606473 skos:exactMatch HGNC:15593 Unspecified SS18L2 +OMIM:606473 skos:exactMatch HGNC_symbol:SS18L2 Unspecified SS18L2 +OMIM:606473 skos:exactMatch UMLS:C1423602 Unspecified SS18L2 +OMIM:606478 skos:exactMatch UMLS:C1538704 Unspecified POT1 +OMIM:606478 skos:exactMatch HGNC_symbol:POT1 Unspecified POT1 +OMIM:606478 skos:exactMatch HGNC:17284 Unspecified POT1 +OMIM:606479 skos:exactMatch UMLS:C1422547 Unspecified NLGN2 +OMIM:606479 skos:exactMatch HGNC_symbol:NLGN2 Unspecified NLGN2 +OMIM:606479 skos:exactMatch HGNC:14290 Unspecified NLGN2 +OMIM:606476 skos:exactMatch UMLS:C4015968 Unspecified ITPKC +OMIM:606476 skos:exactMatch UMLS:C1423036 Unspecified ITPKC +OMIM:606476 skos:exactMatch HGNC:14897 Unspecified ITPKC +OMIM:606476 skos:exactMatch HGNC_symbol:ITPKC Unspecified ITPKC +OMIM:606477 skos:exactMatch UMLS:C1422619 Unspecified SRR +OMIM:606477 skos:exactMatch HGNC:14398 Unspecified SRR +OMIM:606477 skos:exactMatch HGNC_symbol:SRR Unspecified SRR +OMIM:606458 skos:exactMatch UMLS:C1422555 Unspecified AXUD1 +OMIM:606458 skos:exactMatch HGNC_symbol:CSRNP1 Unspecified AXUD1 +OMIM:606458 skos:exactMatch HGNC:14300 Unspecified AXUD1 +OMIM:606459 skos:exactMatch HGNC:15768 Unspecified OGFR +OMIM:606459 skos:exactMatch UMLS:C1423717 Unspecified OGFR +OMIM:606459 skos:exactMatch HGNC_symbol:OGFR Unspecified OGFR +OMIM:618441 skos:exactMatch UMLS:C1422167 Unspecified ADGRG3 +OMIM:618441 skos:exactMatch HGNC_symbol:ADGRG3 Unspecified ADGRG3 +OMIM:618441 skos:exactMatch HGNC:13728 Unspecified ADGRG3 +OMIM:248100 skos:exactMatch UMLS:C1855468 Unspecified macrosomia adiposa congenita +OMIM:618440 skos:exactMatch UMLS:C5193101 Unspecified oculoskeletodental syndrome +OMIM:618443 skos:exactMatch UMLS:C5193102 Unspecified neurodevelopmental disorder with or without variable brain abnormalities +OMIM:618442 skos:exactMatch HGNC:22394 Unspecified KCTD8 +OMIM:618442 skos:exactMatch UMLS:C1427767 Unspecified KCTD8 +OMIM:618442 skos:exactMatch HGNC_symbol:KCTD8 Unspecified KCTD8 +OMIM:310650 skos:exactMatch UMLS:C1839581 Unspecified nuclear ribonucleic acid +OMIM:618445 skos:exactMatch UMLS:C2239490 Unspecified GHRLOS +OMIM:618445 skos:exactMatch HGNC_symbol:GHRLOS Unspecified GHRLOS +OMIM:618445 skos:exactMatch HGNC:33885 Unspecified GHRLOS +OMIM:618444 skos:exactMatch HGNC:23633 Unspecified PLGRKT +OMIM:618444 skos:exactMatch UMLS:C1428175 Unspecified PLGRKT +OMIM:618444 skos:exactMatch HGNC_symbol:PLGRKT Unspecified PLGRKT +OMIM:618447 skos:exactMatch UMLS:C1832916 Unspecified long qt syndrome 8 +OMIM:618446 skos:exactMatch HGNC:4450 Unspecified GPC2 +OMIM:618446 skos:exactMatch HGNC_symbol:GPC2 Unspecified GPC2 +OMIM:618446 skos:exactMatch UMLS:C1415194 Unspecified GPC2 +OMIM:618438 skos:exactMatch UMLS:C5193100 Unspecified spastic ataxia 9, autosomal recessive +OMIM:618437 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 75 +OMIM:618437 skos:exactMatch UMLS:C5193099 Unspecified developmental and epileptic encephalopathy 75 +OMIM:618439 skos:exactMatch HGNC_symbol:USP45 Unspecified USP45 +OMIM:618439 skos:exactMatch UMLS:C1426667 Unspecified USP45 +OMIM:618439 skos:exactMatch HGNC:20080 Unspecified USP45 +OMIM:606460 skos:exactMatch UMLS:C2751375 Unspecified longevity 2 +OMIM:248110 skos:exactMatch UMLS:C1855467 Unspecified macrosomia with microphthalmia, lethal +OMIM:606463 skos:exactMatch UMLS:C3148775 Unspecified GBA +OMIM:606463 skos:exactMatch UMLS:C1856476 Unspecified GBA +OMIM:606463 skos:exactMatch HGNC:4177 Unspecified GBA +OMIM:606463 skos:exactMatch UMLS:C1842704 Unspecified GBA +OMIM:606463 skos:exactMatch UMLS:C1961835 Unspecified GBA +OMIM:606463 skos:exactMatch HGNC_symbol:GBA Unspecified GBA +OMIM:606463 skos:exactMatch UMLS:C0268251 Unspecified GBA +OMIM:606463 skos:exactMatch UMLS:C0268250 Unspecified GBA +OMIM:606463 skos:exactMatch UMLS:C1414998 Unspecified GBA +OMIM:606463 skos:exactMatch UMLS:C1847917 Unspecified GBA +OMIM:606463 skos:exactMatch UMLS:C2676021 Unspecified GBA +OMIM:606464 skos:exactMatch UMLS:C1423607 Unspecified HAMP +OMIM:606464 skos:exactMatch UMLS:C4016968 Unspecified HAMP +OMIM:606464 skos:exactMatch UMLS:C3150862 Unspecified HAMP +OMIM:606464 skos:exactMatch UMLS:C1865616 Unspecified HAMP +OMIM:606464 skos:exactMatch HGNC:15598 Unspecified HAMP +OMIM:606464 skos:exactMatch HGNC_symbol:HAMP Unspecified HAMP +OMIM:251750 skos:exactMatch UMLS:C3538951 Unspecified microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma +OMIM:606461 skos:exactMatch HGNC:17843 Unspecified TGS1 +OMIM:606461 skos:exactMatch HGNC_symbol:TGS1 Unspecified TGS1 +OMIM:606461 skos:exactMatch UMLS:C1869126 Unspecified TGS1 +OMIM:606462 skos:exactMatch UMLS:C3553517 Unspecified RAD21 +OMIM:606462 skos:exactMatch UMLS:C1969653 Unspecified RAD21 +OMIM:606462 skos:exactMatch HGNC_symbol:RAD21 Unspecified RAD21 +OMIM:606462 skos:exactMatch HGNC:9811 Unspecified RAD21 +OMIM:606462 skos:exactMatch UMLS:C1419235 Unspecified RAD21 +OMIM:606462 skos:exactMatch UMLS:C5394577 Unspecified RAD21 +OMIM:606467 skos:exactMatch UMLS:C1423512 Unspecified ALDH8A1 +OMIM:606467 skos:exactMatch HGNC_symbol:ALDH8A1 Unspecified ALDH8A1 +OMIM:606467 skos:exactMatch HGNC:15471 Unspecified ALDH8A1 +OMIM:606468 skos:exactMatch HGNC_symbol:GAR1 Unspecified GAR1 +OMIM:606468 skos:exactMatch UMLS:C1422525 Unspecified GAR1 +OMIM:606468 skos:exactMatch HGNC:14264 Unspecified GAR1 +OMIM:606465 skos:exactMatch HGNC_symbol:KLF15 Unspecified KLF15 +OMIM:606465 skos:exactMatch UMLS:C1422735 Unspecified KLF15 +OMIM:606465 skos:exactMatch HGNC:14536 Unspecified KLF15 +OMIM:307010 skos:exactMatch UMLS:C1844005 Unspecified hydrocephalus with cerebellar agenesis +OMIM:606466 skos:exactMatch UMLS:C1826672 Unspecified PRAM1 +OMIM:606466 skos:exactMatch HGNC:30091 Unspecified PRAM1 +OMIM:606466 skos:exactMatch HGNC_symbol:PRAM1 Unspecified PRAM1 +OMIM:606449 skos:exactMatch HGNC:9636 Unspecified PTP4A3 +OMIM:606449 skos:exactMatch UMLS:C1419090 Unspecified PTP4A3 +OMIM:606449 skos:exactMatch HGNC_symbol:PTP4A3 Unspecified PTP4A3 +OMIM:606447 skos:exactMatch UMLS:C1419436 Unspecified RNPS1 +OMIM:606447 skos:exactMatch HGNC:10080 Unspecified RNPS1 +OMIM:606447 skos:exactMatch HGNC_symbol:RNPS1 Unspecified RNPS1 +OMIM:606448 skos:exactMatch UMLS:C1425351 Unspecified TXNRD2 +OMIM:606448 skos:exactMatch HGNC_symbol:TXNRD2 Unspecified TXNRD2 +OMIM:606448 skos:exactMatch HGNC:18155 Unspecified TXNRD2 +OMIM:618430 skos:exactMatch UMLS:C5193092 Unspecified developmental delay with variable intellectual impairment and behavioral abnormalities +OMIM:131950 skos:exactMatch UMLS:C0432317 Unspecified epidermolysis bullosa simplex 5a, ogna iia +OMIM:618432 skos:exactMatch UMLS:C5193094 Unspecified hydatidiform mole, recurrent, 4 +OMIM:618432 skos:exactMatch ORPHA:254688 Unspecified hydatidiform mole, recurrent, 4 +OMIM:618431 skos:exactMatch UMLS:C5193093 Unspecified hydatidiform mole, recurrent, 3 +OMIM:618434 skos:exactMatch ORPHA:90636 Unspecified deafness, autosomal recessive 94 +OMIM:618434 skos:exactMatch UMLS:C5193096 Unspecified deafness, autosomal recessive 94 +OMIM:155900 skos:exactMatch UMLS:C0025235 Unspecified melkersson-rosenthal syndrome +OMIM:618433 skos:exactMatch UMLS:C5193095 Unspecified spermatogenic failure 38 +OMIM:618436 skos:exactMatch UMLS:C5193098 Unspecified arthrogryposis, distal, iia 2b3 +OMIM:618435 skos:exactMatch ORPHA:1146 Unspecified arthrogryposis, distal, iia 2b2 +OMIM:618435 skos:exactMatch ORPHA:1147 Unspecified arthrogryposis, distal, iia 2b2 +OMIM:618435 skos:exactMatch UMLS:C5193097 Unspecified arthrogryposis, distal, iia 2b2 +OMIM:618427 skos:exactMatch HGNC_symbol:PACC1 Unspecified PACC1 +OMIM:618427 skos:exactMatch HGNC:25593 Unspecified PACC1 +OMIM:618427 skos:exactMatch UMLS:C1823219 Unspecified PACC1 +OMIM:618426 skos:exactMatch UMLS:C5193089 Unspecified encephalopathy, acute, infection-induced, susceptibility to, 9 +OMIM:618429 skos:exactMatch UMLS:C5193091 Unspecified spermatogenic failure 37 +OMIM:606452 skos:exactMatch HGNC_symbol:ZMAT3 Unspecified ZMAT3 +OMIM:606452 skos:exactMatch HGNC:29983 Unspecified ZMAT3 +OMIM:606452 skos:exactMatch UMLS:C1823954 Unspecified ZMAT3 +OMIM:606453 skos:exactMatch HGNC:1742 Unspecified LRBA +OMIM:606453 skos:exactMatch UMLS:C1413266 Unspecified LRBA +OMIM:606453 skos:exactMatch HGNC_symbol:LRBA Unspecified LRBA +OMIM:606450 skos:exactMatch UMLS:C1422777 Unspecified NET1 +OMIM:606450 skos:exactMatch HGNC_symbol:NET1 Unspecified NET1 +OMIM:606450 skos:exactMatch HGNC:14592 Unspecified NET1 +OMIM:606451 skos:exactMatch UMLS:C1847972 Unspecified deafness, autosomal dominant 30 +OMIM:606456 skos:exactMatch HGNC:7931 Unspecified NPM3 +OMIM:606456 skos:exactMatch UMLS:C1417806 Unspecified NPM3 +OMIM:606456 skos:exactMatch HGNC_symbol:NPM3 Unspecified NPM3 +OMIM:606457 skos:exactMatch HGNC:17853 Unspecified IBTK +OMIM:606457 skos:exactMatch UMLS:C1425132 Unspecified IBTK +OMIM:606457 skos:exactMatch HGNC_symbol:IBTK Unspecified IBTK +OMIM:606454 skos:exactMatch HGNC:3258 Unspecified EIF2B2 +OMIM:606454 skos:exactMatch UMLS:C1414328 Unspecified EIF2B2 +OMIM:606454 skos:exactMatch HGNC_symbol:EIF2B2 Unspecified EIF2B2 +OMIM:606455 skos:exactMatch HGNC:14950 Unspecified PPP1R13B +OMIM:606455 skos:exactMatch UMLS:C1423080 Unspecified PPP1R13B +OMIM:606455 skos:exactMatch HGNC_symbol:PPP1R13B Unspecified PPP1R13B +OMIM:131960 skos:exactMatch UMLS:C0432316 Unspecified epidermolysis bullosa simplex 2f, with mottled pigmentation +OMIM:200150 skos:exactMatch UMLS:C0393576 Unspecified choreoacanthocytosis +OMIM:238750 skos:exactMatch UMLS:C0268555 Unspecified hyperlysinuria with hyperammonemia +OMIM:618490 skos:exactMatch UMLS:C1425111 Unspecified GPR107 +OMIM:618490 skos:exactMatch HGNC_symbol:GPR107 Unspecified GPR107 +OMIM:618490 skos:exactMatch HGNC:17830 Unspecified GPR107 +OMIM:167900 skos:exactMatch UMLS:C0263385 Unspecified papillomatosis, confluent and reticulated +OMIM:212140 skos:exactMatch ORPHA:158 Unspecified carnitine deficiency, systemic primary +OMIM:212140 skos:exactMatch UMLS:C0342788 Unspecified carnitine deficiency, systemic primary +OMIM:618492 skos:exactMatch UMLS:C5193123 Unspecified neurodevelopmental disorder with microcephaly and structural brain anomalies +OMIM:618491 skos:exactMatch UMLS:C1425110 Unspecified GPR108 +OMIM:618491 skos:exactMatch HGNC_symbol:GPR108 Unspecified GPR108 +OMIM:618491 skos:exactMatch HGNC:17829 Unspecified GPR108 +OMIM:618494 skos:exactMatch UMLS:C5193125 Unspecified congenital hypotonia, epilepsy, developmental delay, and digital anomalies +OMIM:618493 skos:exactMatch UMLS:C5193124 Unspecified hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities +OMIM:224100 skos:exactMatch UMLS:C1306589 Unspecified anemia, congenital dyserythropoietic, iia 2 +OMIM:618496 skos:exactMatch UMLS:C5193127 Unspecified aortic valve disease 3 +OMIM:618495 skos:exactMatch UMLS:C5193126 Unspecified immunodeficiency 63 with lymphoproliferation and autoimmunity +OMIM:618498 skos:exactMatch UMLS:C5193129 Unspecified polydactyly, postaxial, iia a10 +OMIM:618497 skos:exactMatch UMLS:C5193128 Unspecified neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements +OMIM:618499 skos:exactMatch UMLS:C5193130 Unspecified noonan syndrome 11 +OMIM:180903 skos:exactMatch UMLS:C1419780 Unspecified RYR3 +OMIM:180903 skos:exactMatch HGNC:10485 Unspecified RYR3 +OMIM:180903 skos:exactMatch HGNC_symbol:RYR3 Unspecified RYR3 +OMIM:212138 skos:exactMatch UMLS:C0342791 Unspecified carnitine-acylcarnitine translocase deficiency +OMIM:212130 skos:exactMatch UMLS:C1859328 Unspecified cardiomyopathy associated with myopathy and sudden death +OMIM:180900 skos:exactMatch UMLS:C0796140 Unspecified rutherfurd syndrome +OMIM:180901 skos:exactMatch UMLS:C4016368 Unspecified RYR1 +OMIM:180901 skos:exactMatch UMLS:C1419778 Unspecified RYR1 +OMIM:180901 skos:exactMatch UMLS:C2674259 Unspecified RYR1 +OMIM:180901 skos:exactMatch HGNC:10483 Unspecified RYR1 +OMIM:180901 skos:exactMatch HGNC_symbol:RYR1 Unspecified RYR1 +OMIM:180901 skos:exactMatch UMLS:C0751951 Unspecified RYR1 +OMIM:180901 skos:exactMatch UMLS:C1840365 Unspecified RYR1 +OMIM:180901 skos:exactMatch UMLS:C2930980 Unspecified RYR1 +OMIM:180901 skos:exactMatch UMLS:C1850674 Unspecified RYR1 +OMIM:212135 skos:exactMatch UMLS:C1859327 Unspecified cardioskeletal syndrome, kuwaiti iia +OMIM:180902 skos:exactMatch UMLS:C4016369 Unspecified RYR2 +OMIM:180902 skos:exactMatch UMLS:C1419779 Unspecified RYR2 +OMIM:180902 skos:exactMatch UMLS:C1832931 Unspecified RYR2 +OMIM:180902 skos:exactMatch HGNC:10484 Unspecified RYR2 +OMIM:180902 skos:exactMatch UMLS:C1631597 Unspecified RYR2 +OMIM:180902 skos:exactMatch HGNC_symbol:RYR2 Unspecified RYR2 +OMIM:618481 skos:exactMatch UMLS:C4760579 Unspecified deafness, autosomal recessive 99 +OMIM:618481 skos:exactMatch ORPHA:90636 Unspecified deafness, autosomal recessive 99 +OMIM:618480 skos:exactMatch UMLS:C5193119 Unspecified neurodevelopmental disorder with seizures and speech and walking impairment +OMIM:618483 skos:exactMatch UMLS:C1416872 Unspecified LLGL2 +OMIM:618483 skos:exactMatch HGNC_symbol:LLGL2 Unspecified LLGL2 +OMIM:618483 skos:exactMatch HGNC:6629 Unspecified LLGL2 +OMIM:618482 skos:exactMatch ORPHA:36387 Unspecified generalized epilepsy with febrile seizures plus, iia 10 +OMIM:618482 skos:exactMatch UMLS:C5193120 Unspecified generalized epilepsy with febrile seizures plus, iia 10 +OMIM:155950 skos:exactMatch UMLS:C3149631 Unspecified melorheostosis, isolated +OMIM:155950 skos:exactMatch ORPHA:2485 Unspecified melorheostosis, isolated +OMIM:618485 skos:exactMatch HGNC_symbol:ZBTB40-IT1 Unspecified ZBTB40IT1 +OMIM:618485 skos:exactMatch HGNC:41493 Unspecified ZBTB40IT1 +OMIM:618485 skos:exactMatch UMLS:C5193122 Unspecified ZBTB40IT1 +OMIM:618484 skos:exactMatch ORPHA:319332 Unspecified arthrogryposis multiplex congenita 3, myogenic iia +OMIM:618484 skos:exactMatch UMLS:C5193121 Unspecified arthrogryposis multiplex congenita 3, myogenic iia +OMIM:618487 skos:exactMatch UMLS:C1428170 Unspecified GPR151 +OMIM:618487 skos:exactMatch HGNC_symbol:GPR151 Unspecified GPR151 +OMIM:618487 skos:exactMatch HGNC:23624 Unspecified GPR151 +OMIM:618486 skos:exactMatch HGNC_symbol:PLBD1 Unspecified PLBD1 +OMIM:618486 skos:exactMatch UMLS:C2678558 Unspecified PLBD1 +OMIM:618486 skos:exactMatch HGNC:26215 Unspecified PLBD1 +OMIM:618489 skos:exactMatch HGNC:14310 Unspecified BRD7 +OMIM:618489 skos:exactMatch HGNC_symbol:BRD7 Unspecified BRD7 +OMIM:618489 skos:exactMatch UMLS:C1422561 Unspecified BRD7 +OMIM:618488 skos:exactMatch HGNC:23792 Unspecified PLD4 +OMIM:618488 skos:exactMatch HGNC_symbol:PLD4 Unspecified PLD4 +OMIM:618488 skos:exactMatch UMLS:C1826594 Unspecified PLD4 +OMIM:263700 skos:exactMatch UMLS:C0162530 Unspecified porphyria, congenital erythropoietic +OMIM:200170 skos:exactMatch UMLS:C1860215 Unspecified acanthosis nigricans with muscle cramps and acral enlargement +OMIM:236110 skos:exactMatch UMLS:C1856095 Unspecified holzgreve syndrome +OMIM:141300 skos:exactMatch UMLS:C0015458 Unspecified hemifacial atrophy, progressive +OMIM:618470 skos:exactMatch ORPHA:528084 Unspecified intellectual developmental disorder with severe speech and ambulation defects +OMIM:618470 skos:exactMatch UMLS:C5193115 Unspecified intellectual developmental disorder with severe speech and ambulation defects +OMIM:212160 skos:exactMatch UMLS:C1859318 Unspecified carnitine deficiency, myopathic +OMIM:618472 skos:exactMatch HGNC:20123 Unspecified ASPG +OMIM:618472 skos:exactMatch UMLS:C2681123 Unspecified ASPG +OMIM:618472 skos:exactMatch HGNC_symbol:ASPG Unspecified ASPG +OMIM:618471 skos:exactMatch UMLS:C1427176 Unspecified RPF2 +OMIM:618471 skos:exactMatch HGNC:20870 Unspecified RPF2 +OMIM:618471 skos:exactMatch HGNC_symbol:RPF2 Unspecified RPF2 +OMIM:618474 skos:exactMatch HGNC:30203 Unspecified WDR83OS +OMIM:618474 skos:exactMatch UMLS:C3470245 Unspecified WDR83OS +OMIM:618474 skos:exactMatch HGNC_symbol:WDR83OS Unspecified WDR83OS +OMIM:618473 skos:exactMatch HGNC:28147 Unspecified EIF1AD +OMIM:618473 skos:exactMatch HGNC_symbol:EIF1AD Unspecified EIF1AD +OMIM:618473 skos:exactMatch UMLS:C2239373 Unspecified EIF1AD +OMIM:224120 skos:exactMatch UMLS:C0271933 Unspecified anemia, congenital dyserythropoietic, iia ia +OMIM:618476 skos:exactMatch UMLS:C5193117 Unspecified brain abnormalities, neurodegeneration, and dysosteosclerosis +OMIM:618475 skos:exactMatch UMLS:C5193116 Unspecified paragangliomas 7 +OMIM:618478 skos:exactMatch HGNC:27295 Unspecified FYB2 +OMIM:618478 skos:exactMatch UMLS:C1823784 Unspecified FYB2 +OMIM:618478 skos:exactMatch HGNC_symbol:FYB2 Unspecified FYB2 +OMIM:618477 skos:exactMatch UMLS:C4760647 Unspecified uridine-cytidineuria +OMIM:618479 skos:exactMatch UMLS:C5193118 Unspecified cerebellar, ocular, craniofacial, and genital syndrome +OMIM:606492 skos:exactMatch HGNC_symbol:EXOSC5 Unspecified EXOSC5 +OMIM:606492 skos:exactMatch HGNC:24662 Unspecified EXOSC5 +OMIM:606492 skos:exactMatch UMLS:C1428398 Unspecified EXOSC5 +OMIM:179900 skos:exactMatch UMLS:C1867331 Unspecified retinal aplasia +OMIM:606493 skos:exactMatch UMLS:C1424876 Unspecified EXOSC1 +OMIM:606493 skos:exactMatch HGNC_symbol:EXOSC1 Unspecified EXOSC1 +OMIM:606493 skos:exactMatch HGNC:17286 Unspecified EXOSC1 +OMIM:606490 skos:exactMatch UMLS:C1425980 Unspecified EXOSC6 +OMIM:606490 skos:exactMatch HGNC_symbol:EXOSC6 Unspecified EXOSC6 +OMIM:606490 skos:exactMatch HGNC:19055 Unspecified EXOSC6 +OMIM:606491 skos:exactMatch UMLS:C1425367 Unspecified EXOSC4 +OMIM:606491 skos:exactMatch HGNC_symbol:EXOSC4 Unspecified EXOSC4 +OMIM:606491 skos:exactMatch HGNC:18189 Unspecified EXOSC4 +OMIM:236100 skos:exactMatch UMLS:C0079541 Unspecified holoprosencephaly 1 +OMIM:236100 skos:exactMatch UMLS:C0431363 Unspecified holoprosencephaly 1 +OMIM:236100 skos:exactMatch UMLS:C0078982 Unspecified holoprosencephaly 1 +OMIM:236100 skos:exactMatch ORPHA:2162 Unspecified holoprosencephaly 1 +OMIM:236100 skos:exactMatch UMLS:C0266667 Unspecified holoprosencephaly 1 +OMIM:606496 skos:exactMatch HGNC:16404 Unspecified IL17F +OMIM:606496 skos:exactMatch UMLS:C1424252 Unspecified IL17F +OMIM:606496 skos:exactMatch HGNC_symbol:IL17F Unspecified IL17F +OMIM:606497 skos:exactMatch HGNC_symbol:UGT2B28 Unspecified UGT2B28 +OMIM:606497 skos:exactMatch HGNC:13479 Unspecified UGT2B28 +OMIM:606497 skos:exactMatch UMLS:C1422012 Unspecified UGT2B28 +OMIM:606494 skos:exactMatch HGNC:10866 Unspecified ST3GAL3 +OMIM:606494 skos:exactMatch UMLS:C1970200 Unspecified ST3GAL3 +OMIM:606494 skos:exactMatch UMLS:C1539861 Unspecified ST3GAL3 +OMIM:606494 skos:exactMatch HGNC_symbol:ST3GAL3 Unspecified ST3GAL3 +OMIM:606494 skos:exactMatch UMLS:C3554316 Unspecified ST3GAL3 +OMIM:606495 skos:exactMatch HGNC_symbol:MARK4 Unspecified MARK4 +OMIM:606495 skos:exactMatch HGNC:13538 Unspecified MARK4 +OMIM:606495 skos:exactMatch UMLS:C1422048 Unspecified MARK4 +OMIM:606498 skos:exactMatch HGNC_symbol:MS4A3 Unspecified MS4A3 +OMIM:606498 skos:exactMatch HGNC:7317 Unspecified MS4A3 +OMIM:606498 skos:exactMatch UMLS:C1417328 Unspecified MS4A3 +OMIM:606499 skos:exactMatch UMLS:C1421959 Unspecified MS4A5 +OMIM:606499 skos:exactMatch HGNC_symbol:MS4A5 Unspecified MS4A5 +OMIM:606499 skos:exactMatch HGNC:13374 Unspecified MS4A5 +OMIM:226735 skos:exactMatch UMLS:C1856933 Unspecified epidermolysis bullosa with diaphragmatic hernia +OMIM:155970 skos:exactMatch HGNC_symbol:CD200 Unspecified MOX2 +OMIM:155970 skos:exactMatch UMLS:C1540289 Unspecified MOX2 +OMIM:155970 skos:exactMatch HGNC:7203 Unspecified MOX2 +OMIM:226730 skos:exactMatch UMLS:C1856934 Unspecified epidermolysis bullosa, junctional 5b, with pyloric atresia +OMIM:226730 skos:exactMatch ORPHA:79403 Unspecified epidermolysis bullosa, junctional 5b, with pyloric atresia +OMIM:200100 skos:exactMatch UMLS:C0000744 Unspecified abetalipoproteinemia +OMIM:167950 skos:exactMatch UMLS:C1868647 Unspecified papillomatosis, florid, of nipple +OMIM:153300 skos:exactMatch UMLS:C0221348 Unspecified yellow nail syndrome +OMIM:309610 skos:exactMatch UMLS:C1839730 Unspecified prieto syndrome +OMIM:238710 skos:exactMatch UMLS:C1855927 Unspecified hyperlysinemia due to defect 1n lysine transport into mitochondria +OMIM:167959 skos:exactMatch HGNC_symbol:HPV18I1 Unspecified human papillomavirus iia 18 integration site 1 +OMIM:167959 skos:exactMatch HGNC:5166 Unspecified human papillomavirus iia 18 integration site 1 +OMIM:167959 skos:exactMatch UMLS:C3887947 Unspecified human papillomavirus iia 18 integration site 1 +OMIM:310600 skos:exactMatch UMLS:C0266526 Unspecified norrie disease +OMIM:200110 skos:exactMatch UMLS:C1860224 Unspecified ablepharon-macrostomia syndrome +OMIM:153310 skos:exactMatch UMLS:C1332765 Unspecified CLC +OMIM:153310 skos:exactMatch HGNC:2014 Unspecified CLC +OMIM:153310 skos:exactMatch HGNC_symbol:CLC Unspecified CLC +OMIM:309620 skos:exactMatch UMLS:C1839729 Unspecified mental retardation, skeletal dysplasia, and abducens palsy +OMIM:251700 skos:exactMatch UMLS:C1968637 Unspecified microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies +OMIM:238700 skos:exactMatch ORPHA:2203 Unspecified hyperlysinemia, iia 1 +OMIM:238700 skos:exactMatch UMLS:C0543533 Unspecified hyperlysinemia, iia 1 +OMIM:128290 skos:exactMatch UMLS:C1851905 Unspecified ear antitragus, tag at base of +OMIM:226750 skos:exactMatch UMLS:C0406740 Unspecified kohlschutter-tonz syndrome +OMIM:212100 skos:exactMatch UMLS:C1859329 Unspecified cardioauditory syndrome of sanchez cascos +OMIM:180910 skos:exactMatch UMLS:C1867061 Unspecified None +OMIM:192900 skos:exactMatch UMLS:C1860463 Unspecified vertebral hypoplasia with lumbar kyphosis +OMIM:155980 skos:exactMatch UMLS:C1835030 Unspecified membranous cranial ossification, delayed +OMIM:165300 skos:exactMatch ORPHA:67036 Unspecified optic atrophy 3, autosomal dominant +OMIM:165300 skos:exactMatch UMLS:C1833809 Unspecified optic atrophy 3, autosomal dominant +OMIM:167960 skos:exactMatch UMLS:C3887948 Unspecified human papillomavirus iia 18 integration site 2 +OMIM:167960 skos:exactMatch HGNC_symbol:HPV18I2 Unspecified human papillomavirus iia 18 integration site 2 +OMIM:167960 skos:exactMatch HGNC:5167 Unspecified human papillomavirus iia 18 integration site 2 +OMIM:200130 skos:exactMatch UMLS:C0796125 Unspecified absent eyebrows and eyelashes with mental retardation +OMIM:153337 skos:exactMatch HGNC_symbol:LAG3 Unspecified LAG3 +OMIM:153337 skos:exactMatch UMLS:C1416771 Unspecified LAG3 +OMIM:153337 skos:exactMatch HGNC:6476 Unspecified LAG3 +OMIM:141350 skos:exactMatch UMLS:C1841640 Unspecified hemifacial hyperplasia with strabismus +OMIM:153330 skos:exactMatch UMLS:C1416788 Unspecified LAMP1 +OMIM:153330 skos:exactMatch HGNC:6499 Unspecified LAMP1 +OMIM:153330 skos:exactMatch HGNC_symbol:LAMP1 Unspecified LAMP1 +OMIM:180920 skos:exactMatch UMLS:C0158667 Unspecified aplasia of lacrimal and salivary glands +OMIM:180920 skos:exactMatch UMLS:C1867059 Unspecified aplasia of lacrimal and salivary glands +OMIM:212112 skos:exactMatch UMLS:C0796031 Unspecified cardiomyopathy, dilated, with hypergonadotropic hypogonadism +OMIM:165215 skos:exactMatch HGNC_symbol:MECOM Unspecified MECOM +OMIM:165215 skos:exactMatch UMLS:C4749145 Unspecified MECOM +OMIM:165215 skos:exactMatch UMLS:C4749144 Unspecified MECOM +OMIM:165215 skos:exactMatch HGNC:3498 Unspecified MECOM +OMIM:165215 skos:exactMatch UMLS:C0812271 Unspecified MECOM +OMIM:165210 skos:exactMatch UMLS:C1833829 Unspecified oncogene bmyc +OMIM:167870 skos:exactMatch UMLS:C1868651 Unspecified panic disorder 1 +OMIM:167870 skos:exactMatch UMLS:C1868650 Unspecified panic disorder 1 +OMIM:167870 skos:exactMatch UMLS:C1868649 Unspecified panic disorder 1 +OMIM:179850 skos:exactMatch UMLS:C4552092 Unspecified dowling-degos disease 1 +OMIM:214700 skos:exactMatch ORPHA:53689 Unspecified diarrhea 1, secretory chloride, congenital +OMIM:214700 skos:exactMatch UMLS:C0267662 Unspecified diarrhea 1, secretory chloride, congenital +OMIM:180860 skos:exactMatch UMLS:C0175693 Unspecified silver-russell syndrome 1 +OMIM:180860 skos:exactMatch ORPHA:813 Unspecified silver-russell syndrome 1 +OMIM:180860 skos:exactMatch UMLS:C5393125 Unspecified silver-russell syndrome 1 +OMIM:165200 skos:exactMatch UMLS:C1833830 Unspecified optic atrophy with demyelinating disease of cns +OMIM:141250 skos:exactMatch HGNC:5013 Unspecified HMOX1 +OMIM:141250 skos:exactMatch HGNC_symbol:HMOX1 Unspecified HMOX1 +OMIM:141250 skos:exactMatch UMLS:C1415619 Unspecified HMOX1 +OMIM:141251 skos:exactMatch HGNC:5014 Unspecified HMOX2 +OMIM:141251 skos:exactMatch HGNC_symbol:HMOX2 Unspecified HMOX2 +OMIM:141251 skos:exactMatch UMLS:C1415620 Unspecified HMOX2 +OMIM:179840 skos:exactMatch UMLS:C1867332 Unspecified reticular dystrophy of retinal pigment epithelium +OMIM:165230 skos:exactMatch HGNC:4318 Unspecified GLI2 +OMIM:165230 skos:exactMatch UMLS:C0812306 Unspecified GLI2 +OMIM:165230 skos:exactMatch HGNC_symbol:GLI2 Unspecified GLI2 +OMIM:153245 skos:exactMatch UMLS:C1835244 Unspecified LEF1 +OMIM:153245 skos:exactMatch HGNC:6551 Unspecified LEF1 +OMIM:153245 skos:exactMatch UMLS:C1384617 Unspecified LEF1 +OMIM:153245 skos:exactMatch HGNC_symbol:LEF1 Unspecified LEF1 +OMIM:153243 skos:exactMatch UMLS:C1456796 Unspecified TNFRSF8 +OMIM:153243 skos:exactMatch HGNC_symbol:TNFRSF8 Unspecified TNFRSF8 +OMIM:153243 skos:exactMatch HGNC:11923 Unspecified TNFRSF8 +OMIM:153240 skos:exactMatch UMLS:C1335808 Unspecified SELL +OMIM:153240 skos:exactMatch HGNC:10720 Unspecified SELL +OMIM:153240 skos:exactMatch HGNC_symbol:SELL Unspecified SELL +OMIM:165220 skos:exactMatch HGNC:4317 Unspecified GLI1 +OMIM:165220 skos:exactMatch UMLS:C0812304 Unspecified GLI1 +OMIM:165220 skos:exactMatch HGNC_symbol:GLI1 Unspecified GLI1 +OMIM:226700 skos:exactMatch UMLS:C0079683 Unspecified epidermolysis bullosa, junctional 1b, severe +OMIM:226700 skos:exactMatch ORPHA:79404 Unspecified epidermolysis bullosa, junctional 1b, severe +OMIM:180849 skos:exactMatch UMLS:C4551859 Unspecified rubinstein-taybi syndrome 1 +OMIM:177200 skos:exactMatch UMLS:C0221043 Unspecified liddle syndrome 1 +OMIM:165250 skos:exactMatch HGNC:4928 Unspecified ZNF875 +OMIM:165250 skos:exactMatch HGNC_symbol:ZNF875 Unspecified ZNF875 +OMIM:165250 skos:exactMatch UMLS:C1415559 Unspecified ZNF875 +OMIM:165240 skos:exactMatch HGNC:4319 Unspecified GLI3 +OMIM:165240 skos:exactMatch UMLS:C0812382 Unspecified GLI3 +OMIM:165240 skos:exactMatch HGNC_symbol:GLI3 Unspecified GLI3 +OMIM:189230 skos:exactMatch UMLS:C1861058 Unspecified toes, space between first and second +OMIM:190220 skos:exactMatch HGNC_symbol:TGFB2 Unspecified TGFB2 +OMIM:190220 skos:exactMatch UMLS:C1336621 Unspecified TGFB2 +OMIM:190220 skos:exactMatch HGNC:11768 Unspecified TGFB2 +OMIM:153290 skos:exactMatch UMLS:C1835242 Unspecified lymphocyte cytosol polypeptide, 49-kd +OMIM:202700 skos:exactMatch ORPHA:486 Unspecified neutropenia, severe congenital, 1, autosomal dominant +OMIM:202700 skos:exactMatch UMLS:C1859966 Unspecified neutropenia, severe congenital, 1, autosomal dominant +OMIM:180870 skos:exactMatch UMLS:C0265248 Unspecified ruvalcaba syndrome +OMIM:189200 skos:exactMatch UMLS:C1861059 Unspecified toes, relative length of first and second +OMIM:165270 skos:exactMatch HGNC:4930 Unspecified ZBTB48 +OMIM:165270 skos:exactMatch HGNC_symbol:ZBTB48 Unspecified ZBTB48 +OMIM:165270 skos:exactMatch UMLS:C1823914 Unspecified ZBTB48 +OMIM:165280 skos:exactMatch UMLS:C1415103 Unspecified GLI4 +OMIM:165280 skos:exactMatch HGNC:4320 Unspecified GLI4 +OMIM:165280 skos:exactMatch HGNC_symbol:GLI4 Unspecified GLI4 +OMIM:153280 skos:exactMatch UMLS:C1835243 Unspecified lymphocyte cytosol polypeptide, 40-kd +OMIM:165260 skos:exactMatch HGNC_symbol:ZSCAN22 Unspecified ZSCAN22 +OMIM:165260 skos:exactMatch HGNC:4929 Unspecified ZSCAN22 +OMIM:165260 skos:exactMatch UMLS:C1824084 Unspecified ZSCAN22 +OMIM:190200 skos:exactMatch UMLS:C1860872 Unspecified tremor of intention, ataxia, and lipofuscinosis +OMIM:118990 skos:exactMatch HGNC:11319 Unspecified ITPRID2 +OMIM:118990 skos:exactMatch HGNC_symbol:ITPRID2 Unspecified ITPRID2 +OMIM:118990 skos:exactMatch UMLS:C1420426 Unspecified ITPRID2 +OMIM:128300 skos:exactMatch UMLS:C0155411 Unspecified ear exostoses +OMIM:106995 skos:exactMatch UMLS:C1862841 Unspecified anonychia-onychodystrophy with hypoplasia or absence of distal phalanges +OMIM:106995 skos:exactMatch ORPHA:1487 Unspecified anonychia-onychodystrophy with hypoplasia or absence of distal phalanges +OMIM:545000 skos:exactMatch UMLS:C0162672 Unspecified myoclonic epilepsy associated with ragged-red fibers +OMIM:104350 skos:exactMatch UMLS:C1863015 Unspecified amastia, bilateral, with ureteral triplication and dysmorphism +OMIM:165290 skos:exactMatch UMLS:C1833810 Unspecified oncogene rmyc +OMIM:118980 skos:exactMatch UMLS:C0265565 Unspecified clavicle, pseudarthrosis of, congenital +OMIM:118960 skos:exactMatch HGNC:2090 Unspecified CLTA +OMIM:118960 skos:exactMatch UMLS:C1413510 Unspecified CLTA +OMIM:118960 skos:exactMatch HGNC_symbol:CLTA Unspecified CLTA +OMIM:116300 skos:exactMatch ORPHA:98992 Unspecified cataract 30, multiple types +OMIM:116300 skos:exactMatch ORPHA:98984 Unspecified cataract 30, multiple types +OMIM:116300 skos:exactMatch UMLS:C3805411 Unspecified cataract 30, multiple types +OMIM:116300 skos:exactMatch ORPHA:91492 Unspecified cataract 30, multiple types +OMIM:118970 skos:exactMatch HGNC:2091 Unspecified CLTB +OMIM:118970 skos:exactMatch UMLS:C1413511 Unspecified CLTB +OMIM:118970 skos:exactMatch HGNC_symbol:CLTB Unspecified CLTB +OMIM:190232 skos:exactMatch UMLS:C1420831 Unspecified TNP2 +OMIM:190232 skos:exactMatch HGNC_symbol:TNP2 Unspecified TNP2 +OMIM:190232 skos:exactMatch HGNC:11952 Unspecified TNP2 +OMIM:104311 skos:exactMatch UMLS:C1418985 Unspecified PSEN1 +OMIM:104311 skos:exactMatch HGNC:9508 Unspecified PSEN1 +OMIM:104311 skos:exactMatch HGNC_symbol:PSEN1 Unspecified PSEN1 +OMIM:190230 skos:exactMatch HGNC_symbol:TGFB3 Unspecified TGFB3 +OMIM:190230 skos:exactMatch UMLS:C1336622 Unspecified TGFB3 +OMIM:190230 skos:exactMatch HGNC:11769 Unspecified TGFB3 +OMIM:190231 skos:exactMatch UMLS:C1420830 Unspecified TNP1 +OMIM:190231 skos:exactMatch HGNC_symbol:TNP1 Unspecified TNP1 +OMIM:190231 skos:exactMatch HGNC:11951 Unspecified TNP1 +OMIM:104310 skos:exactMatch UMLS:C1863051 Unspecified alzheimer disease 2 +OMIM:104310 skos:exactMatch ORPHA:1020 Unspecified alzheimer disease 2 +OMIM:106990 skos:exactMatch UMLS:C1862842 Unspecified anonychia-onychodystrophy with brachydactyly iia B and ectrodactyly +OMIM:118950 skos:exactMatch HGNC:2422 Unspecified CS +OMIM:118950 skos:exactMatch HGNC_symbol:CS Unspecified CS +OMIM:118950 skos:exactMatch UMLS:C1413745 Unspecified CS +OMIM:118955 skos:exactMatch UMLS:C1861554 Unspecified CLTC +OMIM:118955 skos:exactMatch UMLS:C3151474 Unspecified CLTC +OMIM:118955 skos:exactMatch HGNC:2092 Unspecified CLTC +OMIM:118955 skos:exactMatch UMLS:C1413512 Unspecified CLTC +OMIM:118955 skos:exactMatch HGNC_symbol:CLTC Unspecified CLTC +OMIM:273050 skos:exactMatch UMLS:C1848903 Unspecified teeth, noneruption of, with maxillary hypoplasia and genu valgum +OMIM:118946 skos:exactMatch UMLS:C1413558 Unspecified CNTFR +OMIM:118946 skos:exactMatch HGNC_symbol:CNTFR Unspecified CNTFR +OMIM:118946 skos:exactMatch HGNC:2170 Unspecified CNTFR +OMIM:118943 skos:exactMatch UMLS:C1413853 Unspecified chymosin pseudogene +OMIM:118943 skos:exactMatch UMLS:C0072250 Unspecified chymosin pseudogene +OMIM:118943 skos:exactMatch HGNC_symbol:CYMP Unspecified chymosin pseudogene +OMIM:118943 skos:exactMatch HGNC:2588 Unspecified chymosin pseudogene +OMIM:118945 skos:exactMatch HGNC_symbol:CNTF Unspecified CNTF +OMIM:118945 skos:exactMatch HGNC:2169 Unspecified CNTF +OMIM:118945 skos:exactMatch UMLS:C1413557 Unspecified CNTF +OMIM:606401 skos:exactMatch HGNC_symbol:CAPN9 Unspecified CAPN9 +OMIM:606401 skos:exactMatch HGNC:1486 Unspecified CAPN9 +OMIM:606401 skos:exactMatch UMLS:C1413119 Unspecified CAPN9 +OMIM:606402 skos:exactMatch UMLS:C1427996 Unspecified GKN1 +OMIM:606402 skos:exactMatch HGNC:23217 Unspecified GKN1 +OMIM:606402 skos:exactMatch HGNC_symbol:GKN1 Unspecified GKN1 +OMIM:606400 skos:exactMatch HGNC_symbol:CAPN7 Unspecified CAPN7 +OMIM:606400 skos:exactMatch HGNC:1484 Unspecified CAPN7 +OMIM:606400 skos:exactMatch UMLS:C1413117 Unspecified CAPN7 +OMIM:118938 skos:exactMatch UMLS:C1413516 Unspecified CMA1 +OMIM:118938 skos:exactMatch HGNC_symbol:CMA1 Unspecified CMA1 +OMIM:118938 skos:exactMatch HGNC:2097 Unspecified CMA1 +OMIM:118930 skos:exactMatch UMLS:C1335805 Unspecified SCG2 +OMIM:118930 skos:exactMatch HGNC:10575 Unspecified SCG2 +OMIM:118930 skos:exactMatch HGNC_symbol:SCG2 Unspecified SCG2 +OMIM:104300 skos:exactMatch UMLS:C0002395 Unspecified alzheimer disease, familial, 1 +OMIM:104300 skos:exactMatch ORPHA:1020 Unspecified alzheimer disease, familial, 1 +OMIM:104300 skos:exactMatch UMLS:C1541844 Unspecified alzheimer disease, familial, 1 +OMIM:104300 skos:exactMatch UMLS:C1863052 Unspecified alzheimer disease, familial, 1 +OMIM:118920 skos:exactMatch HGNC:1930 Unspecified CHGB +OMIM:118920 skos:exactMatch UMLS:C1332755 Unspecified CHGB +OMIM:118920 skos:exactMatch HGNC_symbol:CHGB Unspecified CHGB +OMIM:118910 skos:exactMatch HGNC_symbol:CHGA Unspecified CHGA +OMIM:118910 skos:exactMatch HGNC:1929 Unspecified CHGA +OMIM:118910 skos:exactMatch UMLS:C0070009 Unspecified CHGA +OMIM:118910 skos:exactMatch UMLS:C1332754 Unspecified CHGA +OMIM:606559 skos:exactMatch HGNC:16379 Unspecified TRIM22 +OMIM:606559 skos:exactMatch HGNC_symbol:TRIM22 Unspecified TRIM22 +OMIM:606559 skos:exactMatch UMLS:C1424231 Unspecified TRIM22 +OMIM:606557 skos:exactMatch HGNC:13221 Unspecified BCL11A +OMIM:606557 skos:exactMatch HGNC_symbol:BCL11A Unspecified BCL11A +OMIM:606557 skos:exactMatch UMLS:C4310833 Unspecified BCL11A +OMIM:606557 skos:exactMatch UMLS:C1421886 Unspecified BCL11A +OMIM:606558 skos:exactMatch HGNC:13222 Unspecified BCL11B +OMIM:606558 skos:exactMatch HGNC_symbol:BCL11B Unspecified BCL11B +OMIM:606558 skos:exactMatch UMLS:C1421887 Unspecified BCL11B +OMIM:618540 skos:exactMatch HGNC_symbol:CREG2 Unspecified CREG2 +OMIM:618540 skos:exactMatch HGNC:14272 Unspecified CREG2 +OMIM:618542 skos:exactMatch HGNC:18072 Unspecified RABL3 +OMIM:618542 skos:exactMatch HGNC_symbol:RABL3 Unspecified RABL3 +OMIM:618544 skos:exactMatch HGNC:20813 Unspecified ZSCAN16 +OMIM:618544 skos:exactMatch HGNC_symbol:ZSCAN16 Unspecified ZSCAN16 +OMIM:618543 skos:exactMatch HGNC:25247 Unspecified CFAP46 +OMIM:618543 skos:exactMatch HGNC_symbol:CFAP46 Unspecified CFAP46 +OMIM:618545 skos:exactMatch HGNC:21060 Unspecified GRPEL2 +OMIM:618545 skos:exactMatch HGNC_symbol:GRPEL2 Unspecified GRPEL2 +OMIM:618537 skos:exactMatch HGNC:30898 Unspecified AVPI1 +OMIM:618537 skos:exactMatch UMLS:C1429012 Unspecified AVPI1 +OMIM:618537 skos:exactMatch HGNC_symbol:AVPI1 Unspecified AVPI1 +OMIM:618536 skos:exactMatch UMLS:C1428911 Unspecified CACTIN +OMIM:618536 skos:exactMatch HGNC:29938 Unspecified CACTIN +OMIM:618536 skos:exactMatch HGNC_symbol:CACTIN Unspecified CACTIN +OMIM:618539 skos:exactMatch HGNC:16930 Unspecified CHERP +OMIM:618539 skos:exactMatch HGNC_symbol:CHERP Unspecified CHERP +OMIM:618538 skos:exactMatch HGNC_symbol:CNRIP1 Unspecified CNRIP1 +OMIM:618538 skos:exactMatch HGNC:24546 Unspecified CNRIP1 +OMIM:606562 skos:exactMatch HGNC:11860 Unspecified TM6SF1 +OMIM:606562 skos:exactMatch UMLS:C1420768 Unspecified TM6SF1 +OMIM:606562 skos:exactMatch HGNC_symbol:TM6SF1 Unspecified TM6SF1 +OMIM:606563 skos:exactMatch HGNC:11861 Unspecified TM6SF2 +OMIM:606563 skos:exactMatch UMLS:C1420769 Unspecified TM6SF2 +OMIM:606563 skos:exactMatch HGNC_symbol:TM6SF2 Unspecified TM6SF2 +OMIM:606560 skos:exactMatch UMLS:C1422733 Unspecified SPAG11B +OMIM:606560 skos:exactMatch HGNC_symbol:SPAG11B Unspecified SPAG11B +OMIM:606560 skos:exactMatch HGNC:14534 Unspecified SPAG11B +OMIM:606561 skos:exactMatch UMLS:C1425766 Unspecified SLC36A1 +OMIM:606561 skos:exactMatch HGNC_symbol:SLC36A1 Unspecified SLC36A1 +OMIM:606561 skos:exactMatch HGNC:18761 Unspecified SLC36A1 +OMIM:606566 skos:exactMatch UMLS:C1424116 Unspecified MYLK2 +OMIM:606566 skos:exactMatch HGNC:16243 Unspecified MYLK2 +OMIM:606566 skos:exactMatch HGNC_symbol:MYLK2 Unspecified MYLK2 +OMIM:606567 skos:exactMatch HGNC_symbol:TM4SF4 Unspecified TM4SF4 +OMIM:606567 skos:exactMatch HGNC:11856 Unspecified TM4SF4 +OMIM:606567 skos:exactMatch UMLS:C1420764 Unspecified TM4SF4 +OMIM:606564 skos:exactMatch HGNC_symbol:PMEPA1 Unspecified PMEPA1 +OMIM:606564 skos:exactMatch UMLS:C1422412 Unspecified PMEPA1 +OMIM:606564 skos:exactMatch HGNC:14107 Unspecified PMEPA1 +OMIM:309530 skos:exactMatch UMLS:C2931498 Unspecified intellectual developmental disorder, X-linked 1 +OMIM:309530 skos:exactMatch UMLS:C1845181 Unspecified intellectual developmental disorder, X-linked 1 +OMIM:309530 skos:exactMatch UMLS:C0796224 Unspecified intellectual developmental disorder, X-linked 1 +OMIM:606565 skos:exactMatch HGNC:11878 Unspecified TMPRSS4 +OMIM:606565 skos:exactMatch UMLS:C1420785 Unspecified TMPRSS4 +OMIM:606565 skos:exactMatch HGNC_symbol:TMPRSS4 Unspecified TMPRSS4 +OMIM:606548 skos:exactMatch HGNC_symbol:MS4A6A Unspecified MS4A6A +OMIM:606548 skos:exactMatch UMLS:C1421960 Unspecified MS4A6A +OMIM:606548 skos:exactMatch HGNC:13375 Unspecified MS4A6A +OMIM:606549 skos:exactMatch UMLS:C1421965 Unspecified MS4A8B +OMIM:606549 skos:exactMatch HGNC_symbol:MS4A8 Unspecified MS4A8B +OMIM:606549 skos:exactMatch HGNC:13380 Unspecified MS4A8B +OMIM:606546 skos:exactMatch UMLS:C1415830 Unspecified HYMAI +OMIM:606546 skos:exactMatch HGNC_symbol:HYMAI Unspecified HYMAI +OMIM:606546 skos:exactMatch HGNC:5326 Unspecified HYMAI +OMIM:606547 skos:exactMatch UMLS:C1421956 Unspecified MS4A4A +OMIM:606547 skos:exactMatch HGNC:13371 Unspecified MS4A4A +OMIM:606547 skos:exactMatch HGNC_symbol:MS4A4A Unspecified MS4A4A +OMIM:618531 skos:exactMatch UMLS:C5193144 Unspecified erythrokeratodermia variabilis et progressiva 6 +OMIM:618530 skos:exactMatch HGNC:28669 Unspecified STKLD1 +OMIM:618530 skos:exactMatch UMLS:C1428730 Unspecified STKLD1 +OMIM:618530 skos:exactMatch HGNC_symbol:STKLD1 Unspecified STKLD1 +OMIM:618533 skos:exactMatch UMLS:C4760307 Unspecified deafness, autosomal dominant 37 +OMIM:618532 skos:exactMatch UMLS:C1425051 Unspecified CLASRP +OMIM:618532 skos:exactMatch HGNC_symbol:CLASRP Unspecified CLASRP +OMIM:618532 skos:exactMatch HGNC:17731 Unspecified CLASRP +OMIM:618535 skos:exactMatch UMLS:C5193145 Unspecified ectodermal dysplasia 15, hypohidrotic/hair iia +OMIM:618534 skos:exactMatch ORPHA:3261 Unspecified immunodeficiency 64 +OMIM:618534 skos:exactMatch UMLS:C5231402 Unspecified immunodeficiency 64 +OMIM:618526 skos:exactMatch UMLS:C1540287 Unspecified PEAK3 +OMIM:618526 skos:exactMatch HGNC_symbol:PEAK3 Unspecified PEAK3 +OMIM:618526 skos:exactMatch HGNC:24793 Unspecified PEAK3 +OMIM:618525 skos:exactMatch UMLS:C1824557 Unspecified CCDC33 +OMIM:618525 skos:exactMatch HGNC_symbol:CCDC33 Unspecified CCDC33 +OMIM:618525 skos:exactMatch HGNC:26552 Unspecified CCDC33 +OMIM:618528 skos:exactMatch UMLS:C5193142 Unspecified mitochondrial DNA depletion syndrome 16 (hepatic type) +OMIM:618527 skos:exactMatch UMLS:C5193147 Unspecified ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features +OMIM:618529 skos:exactMatch UMLS:C5193143 Unspecified robinow syndrome, autosomal recessive 2 +OMIM:606551 skos:exactMatch HGNC:13861 Unspecified LZTS1 +OMIM:606551 skos:exactMatch UMLS:C1422239 Unspecified LZTS1 +OMIM:606551 skos:exactMatch HGNC_symbol:LZTS1 Unspecified LZTS1 +OMIM:606552 skos:exactMatch UMLS:C1847843 Unspecified episodic ataxia, iia 4 +OMIM:309545 skos:exactMatch UMLS:C1839792 Unspecified intellectual developmental disorder, x-linked, syndromic 12 +OMIM:606550 skos:exactMatch HGNC:13370 Unspecified None +OMIM:606550 skos:exactMatch HGNC_symbol:MS4A12 Unspecified None +OMIM:606550 skos:exactMatch UMLS:C1421955 Unspecified None +OMIM:606555 skos:exactMatch UMLS:C1424156 Unspecified TRIM9 +OMIM:606555 skos:exactMatch HGNC_symbol:TRIM9 Unspecified TRIM9 +OMIM:606555 skos:exactMatch HGNC:16288 Unspecified TRIM9 +OMIM:606556 skos:exactMatch HGNC_symbol:TRIM14 Unspecified TRIM14 +OMIM:606556 skos:exactMatch UMLS:C1424151 Unspecified TRIM14 +OMIM:606556 skos:exactMatch HGNC:16283 Unspecified TRIM14 +OMIM:309541 skos:exactMatch UMLS:C0796208 Unspecified methylmalonic aciduria and homocystinuria, cblx iia +OMIM:606553 skos:exactMatch HGNC:11076 Unspecified SLC9A3R2 +OMIM:606553 skos:exactMatch HGNC_symbol:SLC9A3R2 Unspecified SLC9A3R2 +OMIM:606553 skos:exactMatch UMLS:C1420237 Unspecified SLC9A3R2 +OMIM:606554 skos:exactMatch UMLS:C1847839 Unspecified episodic ataxia, iia 3 +OMIM:606537 skos:exactMatch UMLS:C1417559 Unspecified MYO1B +OMIM:606537 skos:exactMatch HGNC_symbol:MYO1B Unspecified MYO1B +OMIM:606537 skos:exactMatch HGNC:7596 Unspecified MYO1B +OMIM:606538 skos:exactMatch UMLS:C1417560 Unspecified MYO1C +OMIM:606538 skos:exactMatch HGNC_symbol:MYO1C Unspecified MYO1C +OMIM:606538 skos:exactMatch HGNC:7597 Unspecified MYO1C +OMIM:606535 skos:exactMatch HGNC:7554 Unspecified MYCBP +OMIM:606535 skos:exactMatch HGNC_symbol:MYCBP Unspecified MYCBP +OMIM:606535 skos:exactMatch UMLS:C1417525 Unspecified MYCBP +OMIM:606536 skos:exactMatch HGNC_symbol:CLIC4 Unspecified CLIC4 +OMIM:606536 skos:exactMatch HGNC:13518 Unspecified CLIC4 +OMIM:606536 skos:exactMatch UMLS:C1332766 Unspecified CLIC4 +OMIM:606539 skos:exactMatch UMLS:C1417561 Unspecified MYO1D +OMIM:606539 skos:exactMatch HGNC_symbol:MYO1D Unspecified MYO1D +OMIM:606539 skos:exactMatch HGNC:7598 Unspecified MYO1D +OMIM:618520 skos:exactMatch HGNC_symbol:EFCAB9 Unspecified EFCAB9 +OMIM:618520 skos:exactMatch UMLS:C2681450 Unspecified EFCAB9 +OMIM:618520 skos:exactMatch HGNC:34530 Unspecified EFCAB9 +OMIM:618522 skos:exactMatch UMLS:C5193190 Unspecified intellectual developmental disorder, autosomal dominant 59 +OMIM:618521 skos:exactMatch HGNC_symbol:ARMC8 Unspecified ARMC8 +OMIM:618521 skos:exactMatch UMLS:C1538938 Unspecified ARMC8 +OMIM:618521 skos:exactMatch HGNC:24999 Unspecified ARMC8 +OMIM:618523 skos:exactMatch UMLS:C5193141 Unspecified hyper-ige recurrent infection syndrome 4b, autosomal recessive +OMIM:618515 skos:exactMatch UMLS:C1540004 Unspecified TMEM33 +OMIM:618515 skos:exactMatch HGNC_symbol:TMEM33 Unspecified TMEM33 +OMIM:618515 skos:exactMatch HGNC:25541 Unspecified TMEM33 +OMIM:618514 skos:exactMatch HGNC_symbol:BRMS1L Unspecified BRMS1L +OMIM:618514 skos:exactMatch HGNC:20512 Unspecified BRMS1L +OMIM:618514 skos:exactMatch UMLS:C1426981 Unspecified BRMS1L +OMIM:618517 skos:exactMatch HGNC:24078 Unspecified ANGPTL7 +OMIM:618517 skos:exactMatch UMLS:C1538275 Unspecified ANGPTL7 +OMIM:618517 skos:exactMatch HGNC_symbol:ANGPTL7 Unspecified ANGPTL7 +OMIM:618516 skos:exactMatch HGNC:19575 Unspecified OR14I1 +OMIM:618516 skos:exactMatch HGNC_symbol:OR14I1 Unspecified OR14I1 +OMIM:618516 skos:exactMatch UMLS:C2678541 Unspecified OR14I1 +OMIM:618519 skos:exactMatch HGNC:34353 Unspecified C2ORF68 +OMIM:618519 skos:exactMatch UMLS:C2681194 Unspecified C2ORF68 +OMIM:618519 skos:exactMatch HGNC_symbol:C2orf68 Unspecified C2ORF68 +OMIM:618518 skos:exactMatch HGNC:16189 Unspecified LINC00261 +OMIM:618518 skos:exactMatch HGNC_symbol:LINC00261 Unspecified LINC00261 +OMIM:618518 skos:exactMatch UMLS:C3470627 Unspecified LINC00261 +OMIM:606540 skos:exactMatch HGNC:7603 Unspecified MYO5B +OMIM:606540 skos:exactMatch UMLS:C1417566 Unspecified MYO5B +OMIM:606540 skos:exactMatch HGNC_symbol:MYO5B Unspecified MYO5B +OMIM:309510 skos:exactMatch ORPHA:94083 Unspecified partington syndrome +OMIM:309510 skos:exactMatch UMLS:C0796250 Unspecified partington syndrome +OMIM:606541 skos:exactMatch HGNC:7607 Unspecified MYO7B +OMIM:606541 skos:exactMatch UMLS:C1417570 Unspecified MYO7B +OMIM:606541 skos:exactMatch HGNC_symbol:MYO7B Unspecified MYO7B +OMIM:606544 skos:exactMatch HGNC:29682 Unspecified GFM2 +OMIM:606544 skos:exactMatch UMLS:C1539561 Unspecified GFM2 +OMIM:606544 skos:exactMatch HGNC_symbol:GFM2 Unspecified GFM2 +OMIM:606545 skos:exactMatch UMLS:C3539888 Unspecified ichthyosis, congenital, autosomal recessive 3 +OMIM:606542 skos:exactMatch HGNC:14067 Unspecified HDAC7A +OMIM:606542 skos:exactMatch HGNC_symbol:HDAC7 Unspecified HDAC7A +OMIM:606542 skos:exactMatch UMLS:C1422387 Unspecified HDAC7A +OMIM:606543 skos:exactMatch HGNC:14065 Unspecified HDAC9 +OMIM:606543 skos:exactMatch UMLS:C1422386 Unspecified HDAC9 +OMIM:606543 skos:exactMatch HGNC_symbol:HDAC9 Unspecified HDAC9 +OMIM:606526 skos:exactMatch HGNC:29643 Unspecified MLPH +OMIM:606526 skos:exactMatch UMLS:C1428884 Unspecified MLPH +OMIM:606526 skos:exactMatch HGNC_symbol:MLPH Unspecified MLPH +OMIM:606527 skos:exactMatch UMLS:C1847871 Unspecified megarbane syndrome +OMIM:606524 skos:exactMatch HGNC:19751 Unspecified SRGAP2 +OMIM:606524 skos:exactMatch UMLS:C1426380 Unspecified SRGAP2 +OMIM:606524 skos:exactMatch HGNC_symbol:SRGAP2 Unspecified SRGAP2 +OMIM:606525 skos:exactMatch HGNC:19744 Unspecified SRGAP3 +OMIM:606525 skos:exactMatch UMLS:C3149025 Unspecified SRGAP3 +OMIM:606525 skos:exactMatch UMLS:C1539848 Unspecified SRGAP3 +OMIM:606525 skos:exactMatch HGNC_symbol:SRGAP3 Unspecified SRGAP3 +OMIM:606528 skos:exactMatch UMLS:C1847866 Unspecified homozygous 11p15-p14 deletion syndrome +OMIM:310500 skos:exactMatch UMLS:C0028077 Unspecified night blindness, congenital stationary, iia 1a +OMIM:310500 skos:exactMatch UMLS:C3495587 Unspecified night blindness, congenital stationary, iia 1a +OMIM:606529 skos:exactMatch UMLS:C1847865 Unspecified craniosynostosis syndrome, autosomal recessive +OMIM:618511 skos:exactMatch UMLS:C5193137 Unspecified neuropathy, hereditary motor and sensory, iia vic, with optic atrophy +OMIM:618510 skos:exactMatch UMLS:C2239363 Unspecified DYTN +OMIM:618510 skos:exactMatch HGNC_symbol:DYTN Unspecified DYTN +OMIM:618510 skos:exactMatch HGNC:23279 Unspecified DYTN +OMIM:618513 skos:exactMatch UMLS:C5193139 Unspecified leber congenital amaurosis 19 +OMIM:618512 skos:exactMatch UMLS:C5193138 Unspecified o'donnell-luria-rodan syndrome +OMIM:618504 skos:exactMatch UMLS:C5193133 Unspecified intellectual developmental disorder, autosomal recessive 71 +OMIM:618503 skos:exactMatch UMLS:C1537440 Unspecified POGLUT3 +OMIM:618503 skos:exactMatch HGNC:28496 Unspecified POGLUT3 +OMIM:618503 skos:exactMatch HGNC_symbol:POGLUT3 Unspecified POGLUT3 +OMIM:618506 skos:exactMatch UMLS:C4760583 Unspecified coffin-siris syndrome 10 +OMIM:618505 skos:exactMatch UMLS:C5193134 Unspecified neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +OMIM:618508 skos:exactMatch HGNC:53754 Unspecified WAKMAR2 +OMIM:618508 skos:exactMatch UMLS:C5193136 Unspecified WAKMAR2 +OMIM:618508 skos:exactMatch HGNC_symbol:WAKMAR2 Unspecified WAKMAR2 +OMIM:618507 skos:exactMatch UMLS:C5193135 Unspecified WAKMAR1 +OMIM:618507 skos:exactMatch HGNC:53753 Unspecified WAKMAR1 +OMIM:618507 skos:exactMatch HGNC_symbol:WAKMAR1 Unspecified WAKMAR1 +OMIM:618509 skos:exactMatch HGNC_symbol:OR2M7 Unspecified OR2M7 +OMIM:618509 skos:exactMatch HGNC:19594 Unspecified OR2M7 +OMIM:618509 skos:exactMatch UMLS:C1426268 Unspecified OR2M7 +OMIM:309520 skos:exactMatch ORPHA:776 Unspecified intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia +OMIM:309520 skos:exactMatch UMLS:C0796022 Unspecified intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia +OMIM:606530 skos:exactMatch HGNC:2605 Unspecified CYP27A1 +OMIM:606530 skos:exactMatch UMLS:C1413864 Unspecified CYP27A1 +OMIM:606530 skos:exactMatch HGNC_symbol:CYP27A1 Unspecified CYP27A1 +OMIM:606533 skos:exactMatch UMLS:C1413486 Unspecified CLIC3 +OMIM:606533 skos:exactMatch HGNC_symbol:CLIC3 Unspecified CLIC3 +OMIM:606533 skos:exactMatch HGNC:2064 Unspecified CLIC3 +OMIM:606534 skos:exactMatch HGNC:17450 Unspecified CYP3A43 +OMIM:606534 skos:exactMatch UMLS:C1424971 Unspecified CYP3A43 +OMIM:606534 skos:exactMatch HGNC_symbol:CYP3A43 Unspecified CYP3A43 +OMIM:606531 skos:exactMatch UMLS:C1425493 Unspecified SCGB3A2 +OMIM:606531 skos:exactMatch HGNC_symbol:SCGB3A2 Unspecified SCGB3A2 +OMIM:606531 skos:exactMatch HGNC:18391 Unspecified SCGB3A2 +OMIM:606532 skos:exactMatch UMLS:C1421939 Unspecified HUNK +OMIM:606532 skos:exactMatch HGNC_symbol:HUNK Unspecified HUNK +OMIM:606532 skos:exactMatch HGNC:13326 Unspecified HUNK +OMIM:618580 skos:exactMatch UMLS:C5231418 Unspecified developmental and epileptic encephalopathy 80 +OMIM:618582 skos:exactMatch HGNC:22981 Unspecified SLC10A5 +OMIM:618582 skos:exactMatch HGNC_symbol:SLC10A5 Unspecified SLC10A5 +OMIM:618581 skos:exactMatch HGNC:33736 Unspecified ANKRD34B +OMIM:618581 skos:exactMatch HGNC_symbol:ANKRD34B Unspecified ANKRD34B +OMIM:618584 skos:exactMatch HGNC:21343 Unspecified NME9 +OMIM:618584 skos:exactMatch HGNC_symbol:NME9 Unspecified NME9 +OMIM:618583 skos:exactMatch HGNC_symbol:MTRES1 Unspecified MTRES1 +OMIM:618583 skos:exactMatch HGNC:17971 Unspecified MTRES1 +OMIM:618583 skos:exactMatch UMLS:C1425209 Unspecified MTRES1 +OMIM:618586 skos:exactMatch HGNC_symbol:WDR37 Unspecified WDR37 +OMIM:618586 skos:exactMatch HGNC:31406 Unspecified WDR37 +OMIM:618585 skos:exactMatch HGNC_symbol:CCDC51 Unspecified CCDC51 +OMIM:618585 skos:exactMatch HGNC:25714 Unspecified CCDC51 +OMIM:618588 skos:exactMatch HGNC:27338 Unspecified PDILT +OMIM:618588 skos:exactMatch HGNC_symbol:PDILT Unspecified PDILT +OMIM:618587 skos:exactMatch UMLS:C5231497 Unspecified intellectual developmental disorder, autosomal dominant 60, with seizures +OMIM:618587 skos:exactMatch ORPHA:1942 Unspecified intellectual developmental disorder, autosomal dominant 60, with seizures +OMIM:618589 skos:exactMatch HGNC:24588 Unspecified GKN2 +OMIM:618589 skos:exactMatch HGNC_symbol:GKN2 Unspecified GKN2 +OMIM:248250 skos:exactMatch UMLS:C0268448 Unspecified hypomagnesemia 3, renal +OMIM:248250 skos:exactMatch UMLS:C3151482 Unspecified hypomagnesemia 3, renal +OMIM:236250 skos:exactMatch UMLS:C1856059 Unspecified homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity +OMIM:236250 skos:exactMatch UMLS:C1856058 Unspecified homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity +OMIM:618571 skos:exactMatch UMLS:C5231414 Unspecified neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies +OMIM:618570 skos:exactMatch HGNC_symbol:TRIM71 Unspecified TRIM71 +OMIM:618570 skos:exactMatch HGNC:32669 Unspecified TRIM71 +OMIM:618575 skos:exactMatch HGNC:54408 Unspecified EMSLR +OMIM:618575 skos:exactMatch HGNC_symbol:EMSLR Unspecified EMSLR +OMIM:618574 skos:exactMatch HGNC:23481 Unspecified DUPD1 +OMIM:618574 skos:exactMatch HGNC_symbol:DUSP29 Unspecified DUPD1 +OMIM:618577 skos:exactMatch UMLS:C5231416 Unspecified neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +OMIM:618576 skos:exactMatch HGNC:30953 Unspecified ZBTB10 +OMIM:618576 skos:exactMatch HGNC_symbol:ZBTB10 Unspecified ZBTB10 +OMIM:618579 skos:exactMatch HGNC:18799 Unspecified DMAC2L +OMIM:618579 skos:exactMatch HGNC_symbol:DMAC2L Unspecified DMAC2L +OMIM:618569 skos:exactMatch ORPHA:528084 Unspecified neurodevelopmental disorder with ataxia, hypotonia, and microcephaly +OMIM:618569 skos:exactMatch UMLS:C5231413 Unspecified neurodevelopmental disorder with ataxia, hypotonia, and microcephaly +OMIM:309580 skos:exactMatch UMLS:C4759781 Unspecified intellectual disability-hypotonic facies syndrome, x-linked, 1 +OMIM:248260 skos:exactMatch UMLS:C1855464 Unspecified magnesium, elevated red cell +OMIM:606591 skos:exactMatch UMLS:C1428895 Unspecified MUS81 +OMIM:606591 skos:exactMatch HGNC:29814 Unspecified MUS81 +OMIM:606591 skos:exactMatch HGNC_symbol:MUS81 Unspecified MUS81 +OMIM:606592 skos:exactMatch HGNC:16431 Unspecified VNN3 +OMIM:606592 skos:exactMatch HGNC_symbol:VNN3P Unspecified VNN3 +OMIM:606592 skos:exactMatch UMLS:C1424274 Unspecified VNN3 +OMIM:606590 skos:exactMatch UMLS:C1826464 Unspecified NPLOC4 +OMIM:606590 skos:exactMatch HGNC:18261 Unspecified NPLOC4 +OMIM:606590 skos:exactMatch HGNC_symbol:NPLOC4 Unspecified NPLOC4 +OMIM:606595 skos:exactMatch UMLS:C1847823 Unspecified charcot-marie-tooth disease, axonal, iia 2f +OMIM:606596 skos:exactMatch UMLS:C4016971 Unspecified FKRP +OMIM:606596 skos:exactMatch UMLS:C4016970 Unspecified FKRP +OMIM:606596 skos:exactMatch UMLS:C3150413 Unspecified FKRP +OMIM:606596 skos:exactMatch HGNC_symbol:FKRP Unspecified FKRP +OMIM:606596 skos:exactMatch HGNC:17997 Unspecified FKRP +OMIM:606596 skos:exactMatch UMLS:C1425226 Unspecified FKRP +OMIM:606596 skos:exactMatch UMLS:C1846672 Unspecified FKRP +OMIM:606593 skos:exactMatch UMLS:C1847827 Unspecified lig4 syndrome +OMIM:606594 skos:exactMatch UMLS:C1822691 Unspecified SETD7 +OMIM:606594 skos:exactMatch HGNC:30412 Unspecified SETD7 +OMIM:606594 skos:exactMatch HGNC_symbol:SETD7 Unspecified SETD7 +OMIM:606599 skos:exactMatch UMLS:C1424661 Unspecified TXNIP +OMIM:606599 skos:exactMatch HGNC:16952 Unspecified TXNIP +OMIM:606599 skos:exactMatch HGNC_symbol:TXNIP Unspecified TXNIP +OMIM:309583 skos:exactMatch UMLS:C0796160 Unspecified intellectual developmental disorder, x-linked, syndromic, snyder-robinson iia +OMIM:606597 skos:exactMatch UMLS:C1335192 Unspecified PAX3 +OMIM:606597 skos:exactMatch HGNC:8617 Unspecified PAX3 +OMIM:606597 skos:exactMatch UMLS:C1847791 Unspecified PAX3 +OMIM:606597 skos:exactMatch HGNC_symbol:PAX3 Unspecified PAX3 +OMIM:309585 skos:exactMatch UMLS:C1839736 Unspecified intellectual developmental disorder, x-linked, syndromic, wilson-turner iia +OMIM:606598 skos:exactMatch UMLS:C1423872 Unspecified GDAP1 +OMIM:606598 skos:exactMatch HGNC:15968 Unspecified GDAP1 +OMIM:606598 skos:exactMatch HGNC_symbol:GDAP1 Unspecified GDAP1 +OMIM:606579 skos:exactMatch UMLS:C1847835 Unspecified vitiligo-associated multiple autoimmune disease susceptibility 1 +OMIM:309549 skos:exactMatch UMLS:C0796215 Unspecified intellectual developmental disorder, X-linked 9 +OMIM:618560 skos:exactMatch HGNC_symbol:B4GALNT4 Unspecified B4GALNT4 +OMIM:618560 skos:exactMatch HGNC:26315 Unspecified B4GALNT4 +OMIM:309548 skos:exactMatch UMLS:C0751157 Unspecified intellectual developmental disorder, X-linked 109 +OMIM:618562 skos:exactMatch HGNC:30712 Unspecified TEX261 +OMIM:618562 skos:exactMatch HGNC_symbol:TEX261 Unspecified TEX261 +OMIM:618561 skos:exactMatch HGNC_symbol:CWH43 Unspecified CWH43 +OMIM:618561 skos:exactMatch HGNC:26133 Unspecified CWH43 +OMIM:557000 skos:exactMatch UMLS:C0342784 Unspecified pearson marrow-pancreas syndrome +OMIM:618563 skos:exactMatch HGNC_symbol:SLC10A4 Unspecified SLC10A4 +OMIM:618563 skos:exactMatch HGNC:22980 Unspecified SLC10A4 +OMIM:618566 skos:exactMatch HGNC_symbol:ANTKMT Unspecified ANTKMT +OMIM:618566 skos:exactMatch HGNC:14152 Unspecified ANTKMT +OMIM:618565 skos:exactMatch HGNC:24893 Unspecified H1-7 +OMIM:618565 skos:exactMatch HGNC_symbol:H1-7 Unspecified H1-7 +OMIM:618568 skos:exactMatch HGNC_symbol:ATPSCKMT Unspecified ATPSCKMT +OMIM:618568 skos:exactMatch HGNC:27029 Unspecified ATPSCKMT +OMIM:618567 skos:exactMatch UMLS:C5231412 Unspecified mitochondrial DNA depletion syndrome 17 +OMIM:618559 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 79 +OMIM:618559 skos:exactMatch UMLS:C5231410 Unspecified developmental and epileptic encephalopathy 79 +OMIM:618558 skos:exactMatch HGNC_symbol:GPSM3 Unspecified GPSM3 +OMIM:618558 skos:exactMatch HGNC:13945 Unspecified GPSM3 +OMIM:606580 skos:exactMatch UMLS:C1417955 Unspecified OPA3 +OMIM:606580 skos:exactMatch HGNC_symbol:OPA3 Unspecified OPA3 +OMIM:606580 skos:exactMatch UMLS:C0574084 Unspecified OPA3 +OMIM:606580 skos:exactMatch HGNC:8142 Unspecified OPA3 +OMIM:606580 skos:exactMatch UMLS:C1833809 Unspecified OPA3 +OMIM:606581 skos:exactMatch UMLS:C1847831 Unspecified polysubstance abuse, susceptibility to +OMIM:606584 skos:exactMatch UMLS:C5394579 Unspecified PTPN23 +OMIM:606584 skos:exactMatch UMLS:C5394578 Unspecified PTPN23 +OMIM:606584 skos:exactMatch UMLS:C5394580 Unspecified PTPN23 +OMIM:606584 skos:exactMatch UMLS:C1422626 Unspecified PTPN23 +OMIM:606584 skos:exactMatch HGNC:14406 Unspecified PTPN23 +OMIM:606584 skos:exactMatch HGNC_symbol:PTPN23 Unspecified PTPN23 +OMIM:606585 skos:exactMatch HGNC:3344 Unspecified ENAM +OMIM:606585 skos:exactMatch UMLS:C1414397 Unspecified ENAM +OMIM:606585 skos:exactMatch HGNC_symbol:ENAM Unspecified ENAM +OMIM:606582 skos:exactMatch UMLS:C1414070 Unspecified DLL1 +OMIM:606582 skos:exactMatch HGNC:2908 Unspecified DLL1 +OMIM:606582 skos:exactMatch HGNC_symbol:DLL1 Unspecified DLL1 +OMIM:606583 skos:exactMatch HGNC_symbol:PRDX5 Unspecified PRDX5 +OMIM:606583 skos:exactMatch UMLS:C1418882 Unspecified PRDX5 +OMIM:606583 skos:exactMatch HGNC:9355 Unspecified PRDX5 +OMIM:309555 skos:exactMatch UMLS:C0795965 Unspecified mental retardation with optic atrophy, deafness, and seizures +OMIM:309550 skos:exactMatch HGNC:3775 Unspecified FMR1 +OMIM:309550 skos:exactMatch HGNC_symbol:FMR1 Unspecified FMR1 +OMIM:309550 skos:exactMatch UMLS:C1414649 Unspecified FMR1 +OMIM:309550 skos:exactMatch UMLS:C1414806 Unspecified FMR1 +OMIM:606588 skos:exactMatch HGNC_symbol:DNMT3L Unspecified DNMT3L +OMIM:606588 skos:exactMatch UMLS:C1414124 Unspecified DNMT3L +OMIM:606588 skos:exactMatch HGNC:2980 Unspecified DNMT3L +OMIM:606589 skos:exactMatch HGNC_symbol:SNX13 Unspecified SNX13 +OMIM:606589 skos:exactMatch HGNC:21335 Unspecified SNX13 +OMIM:606589 skos:exactMatch UMLS:C1427490 Unspecified SNX13 +OMIM:606586 skos:exactMatch UMLS:C1423016 Unspecified RAI14 +OMIM:606586 skos:exactMatch HGNC:14873 Unspecified RAI14 +OMIM:606586 skos:exactMatch HGNC_symbol:RAI14 Unspecified RAI14 +OMIM:606587 skos:exactMatch UMLS:C1419099 Unspecified PTPN18 +OMIM:606587 skos:exactMatch HGNC:9649 Unspecified PTPN18 +OMIM:606587 skos:exactMatch HGNC_symbol:PTPN18 Unspecified PTPN18 +OMIM:236270 skos:exactMatch UMLS:C1856057 Unspecified homocystinuria-megaloblastic anemia, cble complementation iia +OMIM:606568 skos:exactMatch HGNC:6741 Unspecified LZTFL1 +OMIM:606568 skos:exactMatch HGNC_symbol:LZTFL1 Unspecified LZTFL1 +OMIM:606568 skos:exactMatch UMLS:C1416946 Unspecified LZTFL1 +OMIM:606569 skos:exactMatch HGNC_symbol:SACM1L Unspecified SACM1L +OMIM:606569 skos:exactMatch UMLS:C1424716 Unspecified SACM1L +OMIM:606569 skos:exactMatch HGNC:17059 Unspecified SACM1L +OMIM:618551 skos:exactMatch HGNC_symbol:MAP10 Unspecified MAP10 +OMIM:618551 skos:exactMatch HGNC:29265 Unspecified MAP10 +OMIM:618553 skos:exactMatch HGNC:54188 Unspecified BMNCR +OMIM:618553 skos:exactMatch HGNC_symbol:BMNCR Unspecified BMNCR +OMIM:618552 skos:exactMatch HGNC_symbol:SPACA9 Unspecified SPACA9 +OMIM:618552 skos:exactMatch HGNC:1367 Unspecified SPACA9 +OMIM:618554 skos:exactMatch HGNC:13159 Unspecified ZNF84 +OMIM:618554 skos:exactMatch HGNC_symbol:ZNF84 Unspecified ZNF84 +OMIM:618557 skos:exactMatch UMLS:C5231409 Unspecified developmental and epileptic encephalopathy 78 +OMIM:618557 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 78 +OMIM:618556 skos:exactMatch HGNC:24838 Unspecified ENHO +OMIM:618556 skos:exactMatch HGNC_symbol:ENHO Unspecified ENHO +OMIM:618548 skos:exactMatch UMLS:C5231405 Unspecified multiple congenital anomalies-hypotonia-seizures syndrome 4 +OMIM:618548 skos:exactMatch ORPHA:1934 Unspecified multiple congenital anomalies-hypotonia-seizures syndrome 4 +OMIM:251880 skos:exactMatch UMLS:C3151513 Unspecified mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +OMIM:606570 skos:exactMatch HGNC:10778 Unspecified SFRP4 +OMIM:606570 skos:exactMatch HGNC_symbol:SFRP4 Unspecified SFRP4 +OMIM:606570 skos:exactMatch UMLS:C1335814 Unspecified SFRP4 +OMIM:606573 skos:exactMatch UMLS:C1333577 Unspecified FRK +OMIM:606573 skos:exactMatch HGNC:3955 Unspecified FRK +OMIM:606573 skos:exactMatch HGNC_symbol:FRK Unspecified FRK +OMIM:606574 skos:exactMatch UMLS:C1847836 Unspecified albinism, oculocutaneous, iia 4 +OMIM:606574 skos:exactMatch ORPHA:79435 Unspecified albinism, oculocutaneous, iia 4 +OMIM:606571 skos:exactMatch UMLS:C1412918 Unspecified LDLRAD4 +OMIM:606571 skos:exactMatch HGNC:1224 Unspecified LDLRAD4 +OMIM:606571 skos:exactMatch HGNC_symbol:LDLRAD4 Unspecified LDLRAD4 +OMIM:606572 skos:exactMatch UMLS:C1423017 Unspecified NOX5 +OMIM:606572 skos:exactMatch HGNC:14874 Unspecified NOX5 +OMIM:606572 skos:exactMatch HGNC_symbol:NOX5 Unspecified NOX5 +OMIM:606577 skos:exactMatch HGNC_symbol:SLA2 Unspecified SLA2 +OMIM:606577 skos:exactMatch UMLS:C1424907 Unspecified SLA2 +OMIM:606577 skos:exactMatch HGNC:17329 Unspecified SLA2 +OMIM:309560 skos:exactMatch UMLS:C2745996 Unspecified mental retardation with spastic paraplegia and palmoplantar hyperkeratosis +OMIM:606578 skos:exactMatch HGNC_symbol:AQP10 Unspecified AQP10 +OMIM:606578 skos:exactMatch UMLS:C1423922 Unspecified AQP10 +OMIM:606578 skos:exactMatch HGNC:16029 Unspecified AQP10 +OMIM:606575 skos:exactMatch HGNC:13680 Unspecified MPP4 +OMIM:606575 skos:exactMatch UMLS:C1422145 Unspecified MPP4 +OMIM:606575 skos:exactMatch HGNC_symbol:MPP4 Unspecified MPP4 +OMIM:606576 skos:exactMatch HGNC:17303 Unspecified TAF3 +OMIM:606576 skos:exactMatch HGNC_symbol:TAF3 Unspecified TAF3 +OMIM:606576 skos:exactMatch UMLS:C1336566 Unspecified TAF3 +OMIM:141405 skos:exactMatch UMLS:C1841639 Unspecified hemifacial spasm, familial +OMIM:248200 skos:exactMatch UMLS:C1855465 Unspecified stargardt disease 1 +OMIM:248200 skos:exactMatch ORPHA:827 Unspecified stargardt disease 1 +OMIM:248200 skos:exactMatch UMLS:C4282180 Unspecified stargardt disease 1 +OMIM:248200 skos:exactMatch UMLS:C0271093 Unspecified stargardt disease 1 +OMIM:224230 skos:exactMatch UMLS:C1857144 Unspecified dyskeratosis congenita, autosomal recessive 1 +OMIM:251850 skos:exactMatch UMLS:C0341306 Unspecified diarrhea 2, with microvillus atrophy +OMIM:141400 skos:exactMatch UMLS:C0220681 Unspecified hemifacial microsomia with radial defects +OMIM:236200 skos:exactMatch UMLS:C0751202 Unspecified homocystinuria due to cystathionine beta-synthase deficiency +OMIM:236200 skos:exactMatch UMLS:C3150344 Unspecified homocystinuria due to cystathionine beta-synthase deficiency +OMIM:153400 skos:exactMatch UMLS:C2675066 Unspecified lymphedema-distichiasis syndrome +OMIM:153400 skos:exactMatch UMLS:C0265345 Unspecified lymphedema-distichiasis syndrome +OMIM:618591 skos:exactMatch UMLS:C5231420 Unspecified short sleep, familial natural, 2 +OMIM:618590 skos:exactMatch UMLS:C5231419 Unspecified neurodevelopmental disorder with brain anomalies, seizures, and scoliosis +OMIM:618593 skos:exactMatch HGNC:18373 Unspecified ZNF398 +OMIM:618593 skos:exactMatch HGNC_symbol:ZNF398 Unspecified ZNF398 +OMIM:618592 skos:exactMatch HGNC:21487 Unspecified RNF217 +OMIM:618592 skos:exactMatch HGNC_symbol:RNF217 Unspecified RNF217 +OMIM:618595 skos:exactMatch HGNC:16991 Unspecified CKAP4 +OMIM:618595 skos:exactMatch HGNC_symbol:CKAP4 Unspecified CKAP4 +OMIM:618597 skos:exactMatch HGNC_symbol:BEGAIN Unspecified BEGAIN +OMIM:618597 skos:exactMatch HGNC:24163 Unspecified BEGAIN +OMIM:618596 skos:exactMatch UMLS:C5231421 Unspecified epilepsy, idiopathic generalized, susceptibility to, 16 +OMIM:618599 skos:exactMatch HGNC:14265 Unspecified CDH24 +OMIM:618599 skos:exactMatch HGNC_symbol:CDH24 Unspecified CDH24 +OMIM:224250 skos:exactMatch UMLS:C1857143 Unspecified dysmyelination with jaundice +OMIM:226850 skos:exactMatch UMLS:C1856929 Unspecified epilepsy-telangiectasia +OMIM:263800 skos:exactMatch UMLS:C0268450 Unspecified gitelman syndrome +OMIM:153420 skos:exactMatch UMLS:C1332715 Unspecified CD58 +OMIM:153420 skos:exactMatch HGNC_symbol:CD58 Unspecified CD58 +OMIM:153420 skos:exactMatch HGNC:1688 Unspecified CD58 +OMIM:212200 skos:exactMatch UMLS:C3495555 Unspecified carnosinemia +OMIM:153435 skos:exactMatch UMLS:C1416774 Unspecified LAKL +OMIM:153432 skos:exactMatch HGNC_symbol:LSP1 Unspecified LSP1 +OMIM:153432 skos:exactMatch HGNC:6707 Unspecified LSP1 +OMIM:153432 skos:exactMatch UMLS:C1416925 Unspecified LSP1 +OMIM:153430 skos:exactMatch HGNC:6528 Unspecified LCP1 +OMIM:153430 skos:exactMatch HGNC_symbol:LCP1 Unspecified LCP1 +OMIM:153430 skos:exactMatch UMLS:C1334332 Unspecified LCP1 +OMIM:309500 skos:exactMatch UMLS:C0796135 Unspecified renpenning syndrome 1 +OMIM:153440 skos:exactMatch UMLS:C0812308 Unspecified LTA +OMIM:153440 skos:exactMatch UMLS:C2750103 Unspecified LTA +OMIM:153440 skos:exactMatch UMLS:C1835223 Unspecified LTA +OMIM:153440 skos:exactMatch HGNC_symbol:LTA Unspecified LTA +OMIM:153440 skos:exactMatch HGNC:6709 Unspecified LTA +OMIM:153440 skos:exactMatch UMLS:C1832662 Unspecified LTA +OMIM:153456 skos:exactMatch UMLS:C1416898 Unspecified LOXL1 +OMIM:153456 skos:exactMatch HGNC_symbol:LOXL1 Unspecified LOXL1 +OMIM:153456 skos:exactMatch HGNC:6665 Unspecified LOXL1 +OMIM:177400 skos:exactMatch UMLS:C1412756 Unspecified BCHE +OMIM:177400 skos:exactMatch HGNC:983 Unspecified BCHE +OMIM:177400 skos:exactMatch HGNC_symbol:BCHE Unspecified BCHE +OMIM:153455 skos:exactMatch UMLS:C4284414 Unspecified LOX +OMIM:153455 skos:exactMatch UMLS:C1334349 Unspecified LOX +OMIM:153455 skos:exactMatch HGNC_symbol:LOX Unspecified LOX +OMIM:153455 skos:exactMatch UMLS:C4016254 Unspecified LOX +OMIM:153455 skos:exactMatch HGNC:6664 Unspecified LOX +OMIM:153454 skos:exactMatch UMLS:C1538681 Unspecified PLOD1 +OMIM:153454 skos:exactMatch HGNC:9081 Unspecified PLOD1 +OMIM:153454 skos:exactMatch HGNC_symbol:PLOD1 Unspecified PLOD1 +OMIM:153450 skos:exactMatch UMLS:C1416945 Unspecified LYZ +OMIM:153450 skos:exactMatch HGNC_symbol:LYZ Unspecified LYZ +OMIM:153450 skos:exactMatch HGNC:6740 Unspecified LYZ +OMIM:251800 skos:exactMatch UMLS:C2931502 Unspecified microtia with meatal atresia and conductive deafness +OMIM:189300 skos:exactMatch UMLS:C1861056 Unspecified tongue curling, folding, or rolling +OMIM:189300 skos:exactMatch UMLS:C1861055 Unspecified tongue curling, folding, or rolling +OMIM:189300 skos:exactMatch UMLS:C1861057 Unspecified tongue curling, folding, or rolling +OMIM:165330 skos:exactMatch HGNC_symbol:WNT3 Unspecified WNT3 +OMIM:165330 skos:exactMatch HGNC:12782 Unspecified WNT3 +OMIM:165330 skos:exactMatch UMLS:C1337001 Unspecified WNT3 +OMIM:226810 skos:exactMatch UMLS:C1856930 Unspecified epilepsy with bilateral occipital calcifications +OMIM:192950 skos:exactMatch UMLS:C0240912 Unspecified vertical talus, congenital +OMIM:153340 skos:exactMatch HGNC_symbol:CD5 Unspecified CD5 +OMIM:153340 skos:exactMatch HGNC:1685 Unspecified CD5 +OMIM:153340 skos:exactMatch UMLS:C1413227 Unspecified CD5 +OMIM:192968 skos:exactMatch HGNC_symbol:ITGA1 Unspecified ITGA1 +OMIM:192968 skos:exactMatch UMLS:C1442490 Unspecified ITGA1 +OMIM:192968 skos:exactMatch HGNC:6134 Unspecified ITGA1 +OMIM:180980 skos:exactMatch HGNC_symbol:AMD1 Unspecified AMD1 +OMIM:180980 skos:exactMatch HGNC:457 Unspecified AMD1 +OMIM:180980 skos:exactMatch UMLS:C1412379 Unspecified AMD1 +OMIM:190300 skos:exactMatch UMLS:C1860861 Unspecified tremor, hereditary essential, 1 +OMIM:165320 skos:exactMatch UMLS:C1416807 Unspecified LCO +OMIM:226800 skos:exactMatch UMLS:C1856931 Unspecified epilepsy, photogenic, with spastic diplegia and mental retardation +OMIM:177300 skos:exactMatch UMLS:C1867485 Unspecified pseudoarthrogryposis +OMIM:180989 skos:exactMatch UMLS:C1418866 Unspecified PRB1 +OMIM:180989 skos:exactMatch HGNC_symbol:PRB1 Unspecified PRB1 +OMIM:180989 skos:exactMatch HGNC:9337 Unspecified PRB1 +OMIM:180950 skos:exactMatch UMLS:C1867056 Unspecified salivary substance, clostridium botulinum iia +OMIM:180960 skos:exactMatch UMLS:C1412291 Unspecified AHCY +OMIM:180960 skos:exactMatch HGNC_symbol:AHCY Unspecified AHCY +OMIM:180960 skos:exactMatch HGNC:343 Unspecified AHCY +OMIM:165340 skos:exactMatch HGNC_symbol:SKIL Unspecified SKIL +OMIM:165340 skos:exactMatch UMLS:C1335828 Unspecified SKIL +OMIM:165340 skos:exactMatch HGNC:10897 Unspecified SKIL +OMIM:238800 skos:exactMatch UMLS:C1855926 Unspecified hypermetabolism due to defect 1n mitochondria +OMIM:153370 skos:exactMatch UMLS:C1334144 Unspecified ITGAL +OMIM:153370 skos:exactMatch HGNC:6148 Unspecified ITGAL +OMIM:153370 skos:exactMatch HGNC_symbol:ITGAL Unspecified ITGAL +OMIM:165370 skos:exactMatch UMLS:C0812235 Unspecified RHOB +OMIM:165370 skos:exactMatch HGNC:668 Unspecified RHOB +OMIM:165370 skos:exactMatch HGNC_symbol:RHOB Unspecified RHOB +OMIM:190330 skos:exactMatch ORPHA:411788 Unspecified trichomegaly +OMIM:190330 skos:exactMatch UMLS:C0854699 Unspecified trichomegaly +OMIM:153380 skos:exactMatch UMLS:C1835237 Unspecified None +OMIM:177350 skos:exactMatch UMLS:C0406561 Unspecified pseudoatrophoderma colli +OMIM:190345 skos:exactMatch UMLS:C1860849 Unspecified trichoepitheliomas, multiple desmoplastic +OMIM:165360 skos:exactMatch UMLS:C4016300 Unspecified CBL +OMIM:165360 skos:exactMatch UMLS:C4016301 Unspecified CBL +OMIM:165360 skos:exactMatch UMLS:C0812242 Unspecified CBL +OMIM:165360 skos:exactMatch HGNC_symbol:CBL Unspecified CBL +OMIM:165360 skos:exactMatch UMLS:C2986382 Unspecified CBL +OMIM:165360 skos:exactMatch UMLS:C0349639 Unspecified CBL +OMIM:165360 skos:exactMatch HGNC:1541 Unspecified CBL +OMIM:190340 skos:exactMatch UMLS:C1860850 Unspecified discoid fibromas, familial multiple +OMIM:153390 skos:exactMatch HGNC:6524 Unspecified LCK +OMIM:153390 skos:exactMatch HGNC_symbol:LCK Unspecified LCK +OMIM:153390 skos:exactMatch UMLS:C0919477 Unspecified LCK +OMIM:190315 skos:exactMatch HGNC_symbol:SLC25A1 Unspecified SLC25A1 +OMIM:190315 skos:exactMatch UMLS:C1420150 Unspecified SLC25A1 +OMIM:190315 skos:exactMatch UMLS:C2746066 Unspecified SLC25A1 +OMIM:190315 skos:exactMatch HGNC:10979 Unspecified SLC25A1 +OMIM:190315 skos:exactMatch UMLS:C4748678 Unspecified SLC25A1 +OMIM:192977 skos:exactMatch HGNC:12698 Unspecified VLDLR +OMIM:192977 skos:exactMatch UMLS:C1421455 Unspecified VLDLR +OMIM:192977 skos:exactMatch HGNC_symbol:VLDLR Unspecified VLDLR +OMIM:180990 skos:exactMatch UMLS:C1418869 Unspecified PRB4 +OMIM:180990 skos:exactMatch HGNC_symbol:PRB4 Unspecified PRB4 +OMIM:180990 skos:exactMatch HGNC:9340 Unspecified PRB4 +OMIM:192975 skos:exactMatch HGNC:6140 Unspecified ITGA4 +OMIM:192975 skos:exactMatch UMLS:C1416487 Unspecified ITGA4 +OMIM:192975 skos:exactMatch HGNC_symbol:ITGA4 Unspecified ITGA4 +OMIM:192974 skos:exactMatch UMLS:C1416484 Unspecified ITGA2 +OMIM:192974 skos:exactMatch HGNC_symbol:ITGA2 Unspecified ITGA2 +OMIM:192974 skos:exactMatch HGNC:6137 Unspecified ITGA2 +OMIM:214800 skos:exactMatch UMLS:C0265354 Unspecified charge syndrome +OMIM:190310 skos:exactMatch UMLS:C1860860 Unspecified tremor, nystagmus, and duodenal ulcer +OMIM:165380 skos:exactMatch UMLS:C0812236 Unspecified RHOC +OMIM:165380 skos:exactMatch HGNC:669 Unspecified RHOC +OMIM:165380 skos:exactMatch HGNC_symbol:RHOC Unspecified RHOC +OMIM:165390 skos:exactMatch UMLS:C0812234 Unspecified RHOA +OMIM:165390 skos:exactMatch HGNC:667 Unspecified RHOA +OMIM:165390 skos:exactMatch HGNC_symbol:RHOA Unspecified RHOA +OMIM:165390 skos:exactMatch UMLS:C5231517 Unspecified RHOA +OMIM:190320 skos:exactMatch UMLS:C0265333 Unspecified trichodentoosseous syndrome +OMIM:190370 skos:exactMatch HGNC:11791 Unspecified TCHH +OMIM:190370 skos:exactMatch UMLS:C1420724 Unspecified TCHH +OMIM:190370 skos:exactMatch HGNC_symbol:TCHH Unspecified TCHH +OMIM:309590 skos:exactMatch ORPHA:528084 Unspecified intellectual developmental disorder, x-linked, syndromic, turner iia +OMIM:309590 skos:exactMatch ORPHA:85328 Unspecified intellectual developmental disorder, x-linked, syndromic, turner iia +OMIM:309590 skos:exactMatch UMLS:C2678046 Unspecified intellectual developmental disorder, x-linked, syndromic, turner iia +OMIM:309590 skos:exactMatch UMLS:C0796003 Unspecified intellectual developmental disorder, x-linked, syndromic, turner iia +OMIM:309590 skos:exactMatch UMLS:C0796272 Unspecified intellectual developmental disorder, x-linked, syndromic, turner iia +OMIM:128400 skos:exactMatch UMLS:C1851902 Unspecified ear flare +OMIM:190351 skos:exactMatch ORPHA:77258 Unspecified trichorhinophalangeal syndrome, iia 3 +OMIM:190351 skos:exactMatch UMLS:C1860823 Unspecified trichorhinophalangeal syndrome, iia 3 +OMIM:190350 skos:exactMatch ORPHA:77258 Unspecified trichorhinophalangeal syndrome, iia 1 +OMIM:190350 skos:exactMatch UMLS:C0432233 Unspecified trichorhinophalangeal syndrome, iia 1 +OMIM:190360 skos:exactMatch UMLS:C1860822 Unspecified trichodysplasia-xeroderma +OMIM:606515 skos:exactMatch HGNC:10037 Unspecified RN7SK +OMIM:606515 skos:exactMatch HGNC_symbol:RN7SK Unspecified RN7SK +OMIM:606515 skos:exactMatch UMLS:C1419400 Unspecified RN7SK +OMIM:606516 skos:exactMatch HGNC:6923 Unspecified MBNL1 +OMIM:606516 skos:exactMatch UMLS:C1417055 Unspecified MBNL1 +OMIM:606516 skos:exactMatch HGNC_symbol:MBNL1 Unspecified MBNL1 +OMIM:606513 skos:exactMatch HGNC_symbol:PACSIN3 Unspecified PACSIN3 +OMIM:606513 skos:exactMatch HGNC:8572 Unspecified PACSIN3 +OMIM:606513 skos:exactMatch UMLS:C1418243 Unspecified PACSIN3 +OMIM:606514 skos:exactMatch UMLS:C1418982 Unspecified CYTH4 +OMIM:606514 skos:exactMatch HGNC_symbol:CYTH4 Unspecified CYTH4 +OMIM:606514 skos:exactMatch HGNC:9505 Unspecified CYTH4 +OMIM:606519 skos:exactMatch ORPHA:42775 Unspecified phace association +OMIM:606519 skos:exactMatch UMLS:C1847874 Unspecified phace association +OMIM:606517 skos:exactMatch HGNC:346 Unspecified AHRR +OMIM:606517 skos:exactMatch UMLS:C1412294 Unspecified AHRR +OMIM:606517 skos:exactMatch HGNC_symbol:AHRR Unspecified AHRR +OMIM:606518 skos:exactMatch HGNC:17866 Unspecified HAVCR1 +OMIM:606518 skos:exactMatch UMLS:C1425141 Unspecified HAVCR1 +OMIM:606518 skos:exactMatch HGNC_symbol:HAVCR1 Unspecified HAVCR1 +OMIM:116400 skos:exactMatch UMLS:C3805412 Unspecified cataract 41 +OMIM:618500 skos:exactMatch ORPHA:556955 Unspecified holoprosencephaly 12 with or without pancreatic agenesis +OMIM:618500 skos:exactMatch UMLS:C5193131 Unspecified holoprosencephaly 12 with or without pancreatic agenesis +OMIM:618502 skos:exactMatch HGNC:21111 Unspecified BICRAL +OMIM:618502 skos:exactMatch HGNC_symbol:BICRAL Unspecified BICRAL +OMIM:618502 skos:exactMatch UMLS:C4319857 Unspecified BICRAL +OMIM:618501 skos:exactMatch UMLS:C5193132 Unspecified cerebellar atrophy with seizures and variable developmental delay +OMIM:606522 skos:exactMatch UMLS:C1415034 Unspecified GDF3 +OMIM:606522 skos:exactMatch HGNC_symbol:GDF3 Unspecified GDF3 +OMIM:606522 skos:exactMatch HGNC:4218 Unspecified GDF3 +OMIM:606523 skos:exactMatch HGNC:17382 Unspecified SRGAP1 +OMIM:606523 skos:exactMatch UMLS:C1424949 Unspecified SRGAP1 +OMIM:606523 skos:exactMatch HGNC_symbol:SRGAP1 Unspecified SRGAP1 +OMIM:606520 skos:exactMatch HGNC:13937 Unspecified MPIG6B +OMIM:606520 skos:exactMatch UMLS:C1422285 Unspecified MPIG6B +OMIM:606520 skos:exactMatch HGNC_symbol:MPIG6B Unspecified MPIG6B +OMIM:606521 skos:exactMatch HGNC:14409 Unspecified SLC25A19 +OMIM:606521 skos:exactMatch HGNC_symbol:SLC25A19 Unspecified SLC25A19 +OMIM:606521 skos:exactMatch UMLS:C1422628 Unspecified SLC25A19 +OMIM:606504 skos:exactMatch HGNC:17040 Unspecified CASC3 +OMIM:606504 skos:exactMatch HGNC_symbol:CASC3 Unspecified CASC3 +OMIM:606504 skos:exactMatch UMLS:C1424704 Unspecified CASC3 +OMIM:606505 skos:exactMatch HGNC_symbol:PINX1 Unspecified PINX1 +OMIM:606505 skos:exactMatch HGNC:30046 Unspecified PINX1 +OMIM:606505 skos:exactMatch UMLS:C1847895 Unspecified PINX1 +OMIM:606502 skos:exactMatch UMLS:C1421963 Unspecified MS4A7 +OMIM:606502 skos:exactMatch HGNC_symbol:MS4A7 Unspecified MS4A7 +OMIM:606502 skos:exactMatch HGNC:13378 Unspecified MS4A7 +OMIM:606503 skos:exactMatch UMLS:C1424877 Unspecified SUV39H2 +OMIM:606503 skos:exactMatch HGNC:17287 Unspecified SUV39H2 +OMIM:606503 skos:exactMatch HGNC_symbol:SUV39H2 Unspecified SUV39H2 +OMIM:606508 skos:exactMatch UMLS:C1539511 Unspecified FCRL1 +OMIM:606508 skos:exactMatch HGNC_symbol:FCRL1 Unspecified FCRL1 +OMIM:606508 skos:exactMatch HGNC:18509 Unspecified FCRL1 +OMIM:606509 skos:exactMatch HGNC:14875 Unspecified FCRL2 +OMIM:606509 skos:exactMatch UMLS:C1539512 Unspecified FCRL2 +OMIM:606509 skos:exactMatch HGNC_symbol:FCRL2 Unspecified FCRL2 +OMIM:273150 skos:exactMatch UMLS:C1848901 Unspecified testes, rudimentary +OMIM:606511 skos:exactMatch HGNC_symbol:MARK1 Unspecified MARK1 +OMIM:606511 skos:exactMatch HGNC:6896 Unspecified MARK1 +OMIM:606511 skos:exactMatch UMLS:C1417033 Unspecified MARK1 +OMIM:606512 skos:exactMatch HGNC_symbol:PACSIN1 Unspecified PACSIN1 +OMIM:606512 skos:exactMatch HGNC:8570 Unspecified PACSIN1 +OMIM:606512 skos:exactMatch UMLS:C1418241 Unspecified PACSIN1 +OMIM:606510 skos:exactMatch HGNC:18506 Unspecified FCRL3 +OMIM:606510 skos:exactMatch UMLS:C1539513 Unspecified FCRL3 +OMIM:606510 skos:exactMatch HGNC_symbol:FCRL3 Unspecified FCRL3 +OMIM:606500 skos:exactMatch HGNC:18384 Unspecified SCGB3A1 +OMIM:606500 skos:exactMatch UMLS:C1425488 Unspecified SCGB3A1 +OMIM:606500 skos:exactMatch HGNC_symbol:SCGB3A1 Unspecified SCGB3A1 +OMIM:606501 skos:exactMatch HGNC_symbol:MTMR12 Unspecified MTMR12 +OMIM:606501 skos:exactMatch HGNC:18191 Unspecified MTMR12 +OMIM:606501 skos:exactMatch UMLS:C1538024 Unspecified MTMR12 +OMIM:248190 skos:exactMatch UMLS:C4721891 Unspecified hypomagnesemia 5, renal, with or without ocular involvement +OMIM:104400 skos:exactMatch UMLS:C1863014 Unspecified amelia and terminal transverse hemimelia +OMIM:604017 skos:exactMatch HGNC_symbol:B4GALT6 Unspecified B4GALT6 +OMIM:604017 skos:exactMatch HGNC:929 Unspecified B4GALT6 +OMIM:604017 skos:exactMatch UMLS:C1412724 Unspecified B4GALT6 +OMIM:604016 skos:exactMatch HGNC:928 Unspecified B4GALT5 +OMIM:604016 skos:exactMatch HGNC_symbol:B4GALT5 Unspecified B4GALT5 +OMIM:604016 skos:exactMatch UMLS:C1412723 Unspecified B4GALT5 +OMIM:606678 skos:exactMatch HGNC:17961 Unspecified TRPM8 +OMIM:606678 skos:exactMatch HGNC_symbol:TRPM8 Unspecified TRPM8 +OMIM:606678 skos:exactMatch UMLS:C1425206 Unspecified TRPM8 +OMIM:604019 skos:exactMatch UMLS:C1415717 Unspecified AGFG2 +OMIM:604019 skos:exactMatch HGNC_symbol:AGFG2 Unspecified AGFG2 +OMIM:604019 skos:exactMatch HGNC:5177 Unspecified AGFG2 +OMIM:604018 skos:exactMatch UMLS:C1417891 Unspecified NUMBL +OMIM:604018 skos:exactMatch HGNC:8061 Unspecified NUMBL +OMIM:604018 skos:exactMatch HGNC_symbol:NUMBL Unspecified NUMBL +OMIM:606679 skos:exactMatch HGNC_symbol:TRPV5 Unspecified TRPV5 +OMIM:606679 skos:exactMatch UMLS:C1414243 Unspecified TRPV5 +OMIM:606679 skos:exactMatch HGNC:3145 Unspecified TRPV5 +OMIM:618661 skos:exactMatch HGNC:30726 Unspecified CFAP70 +OMIM:618661 skos:exactMatch HGNC_symbol:CFAP70 Unspecified CFAP70 +OMIM:616000 skos:exactMatch UMLS:C0878666 Unspecified analbuminemia +OMIM:618663 skos:exactMatch UMLS:C5231450 Unspecified developmental and epileptic encephalopathy 81 +OMIM:616001 skos:exactMatch UMLS:C4014918 Unspecified breasts and/or nipples, aplasia or hypoplasia of, 2 +OMIM:616002 skos:exactMatch UMLS:C4014925 Unspecified focal segmental glomerulosclerosis 7 +OMIM:616003 skos:exactMatch HGNC:20492 Unspecified APOPT1 +OMIM:616003 skos:exactMatch HGNC_symbol:COA8 Unspecified APOPT1 +OMIM:616003 skos:exactMatch UMLS:C3471496 Unspecified APOPT1 +OMIM:616003 skos:exactMatch UMLS:C5436718 Unspecified APOPT1 +OMIM:618664 skos:exactMatch UMLS:C5231451 Unspecified spermatogenic failure 40 +OMIM:618664 skos:exactMatch ORPHA:276234 Unspecified spermatogenic failure 40 +OMIM:616004 skos:exactMatch UMLS:C0272350 Unspecified dysfibrinogenemia, congenital +OMIM:616004 skos:exactMatch UMLS:C1859970 Unspecified dysfibrinogenemia, congenital +OMIM:616005 skos:exactMatch UMLS:C4014934 Unspecified immunodeficiency 36 +OMIM:618666 skos:exactMatch UMLS:C5231453 Unspecified sitosterolemia 2 +OMIM:618666 skos:exactMatch ORPHA:2882 Unspecified sitosterolemia 2 +OMIM:618658 skos:exactMatch ORPHA:3473 Unspecified zimmermann-laband syndrome 3 +OMIM:618658 skos:exactMatch UMLS:C5231447 Unspecified zimmermann-laband syndrome 3 +OMIM:618657 skos:exactMatch HGNC:24320 Unspecified LARP4 +OMIM:618657 skos:exactMatch HGNC_symbol:LARP4 Unspecified LARP4 +OMIM:190090 skos:exactMatch HGNC_symbol:SRC Unspecified SRC +OMIM:190090 skos:exactMatch HGNC:11283 Unspecified SRC +OMIM:190090 skos:exactMatch UMLS:C0080298 Unspecified SRC +OMIM:618659 skos:exactMatch ORPHA:528084 Unspecified neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies +OMIM:618659 skos:exactMatch UMLS:C5231448 Unspecified neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies +OMIM:606680 skos:exactMatch UMLS:C1422342 Unspecified TRPV6 +OMIM:606680 skos:exactMatch HGNC_symbol:TRPV6 Unspecified TRPV6 +OMIM:606680 skos:exactMatch HGNC:14006 Unspecified TRPV6 +OMIM:604020 skos:exactMatch UMLS:C1412829 Unspecified BSN +OMIM:604020 skos:exactMatch HGNC:1117 Unspecified BSN +OMIM:604020 skos:exactMatch HGNC_symbol:BSN Unspecified BSN +OMIM:606683 skos:exactMatch UMLS:C1414879 Unspecified FXYD6 +OMIM:606683 skos:exactMatch HGNC_symbol:FXYD6 Unspecified FXYD6 +OMIM:606683 skos:exactMatch HGNC:4030 Unspecified FXYD6 +OMIM:606684 skos:exactMatch UMLS:C1414883 Unspecified FXYD7 +OMIM:606684 skos:exactMatch HGNC_symbol:FXYD7 Unspecified FXYD7 +OMIM:606684 skos:exactMatch HGNC:4034 Unspecified FXYD7 +OMIM:606681 skos:exactMatch UMLS:C1847677 Unspecified NSD1 +OMIM:606681 skos:exactMatch UMLS:C1422496 Unspecified NSD1 +OMIM:606681 skos:exactMatch HGNC_symbol:NSD1 Unspecified NSD1 +OMIM:606681 skos:exactMatch HGNC:14234 Unspecified NSD1 +OMIM:606682 skos:exactMatch HGNC:15844 Unspecified HPS4 +OMIM:606682 skos:exactMatch UMLS:C3484357 Unspecified HPS4 +OMIM:606682 skos:exactMatch UMLS:C1423767 Unspecified HPS4 +OMIM:606682 skos:exactMatch HGNC_symbol:HPS4 Unspecified HPS4 +OMIM:606687 skos:exactMatch UMLS:C1414330 Unspecified EIF2B4 +OMIM:606687 skos:exactMatch HGNC_symbol:EIF2B4 Unspecified EIF2B4 +OMIM:606687 skos:exactMatch HGNC:3260 Unspecified EIF2B4 +OMIM:604024 skos:exactMatch HGNC:11041 Unspecified SLC5A6 +OMIM:604024 skos:exactMatch UMLS:C1420205 Unspecified SLC5A6 +OMIM:604024 skos:exactMatch UMLS:C5436520 Unspecified SLC5A6 +OMIM:604024 skos:exactMatch HGNC_symbol:SLC5A6 Unspecified SLC5A6 +OMIM:606688 skos:exactMatch UMLS:C1847650 Unspecified spongiform encephalopathy with neuropsychiatric features +OMIM:606685 skos:exactMatch UMLS:C1847667 Unspecified cardiomyopathy, dilated, 1l +OMIM:606685 skos:exactMatch ORPHA:154 Unspecified cardiomyopathy, dilated, 1l +OMIM:604026 skos:exactMatch HGNC_symbol:GOSR1 Unspecified GOSR1 +OMIM:604026 skos:exactMatch HGNC:4430 Unspecified GOSR1 +OMIM:604026 skos:exactMatch UMLS:C1415179 Unspecified GOSR1 +OMIM:606686 skos:exactMatch HGNC_symbol:EIF2B1 Unspecified EIF2B1 +OMIM:606686 skos:exactMatch HGNC:3257 Unspecified EIF2B1 +OMIM:606686 skos:exactMatch UMLS:C1414327 Unspecified EIF2B1 +OMIM:604025 skos:exactMatch HGNC:904 Unspecified AXIN2 +OMIM:604025 skos:exactMatch HGNC_symbol:AXIN2 Unspecified AXIN2 +OMIM:604025 skos:exactMatch UMLS:C1332126 Unspecified AXIN2 +OMIM:606669 skos:exactMatch UMLS:C1414878 Unspecified FXYD5 +OMIM:606669 skos:exactMatch HGNC_symbol:FXYD5 Unspecified FXYD5 +OMIM:606669 skos:exactMatch HGNC:4029 Unspecified FXYD5 +OMIM:604008 skos:exactMatch HGNC:9686 Unspecified PTPRZ2 +OMIM:604008 skos:exactMatch UMLS:C1419127 Unspecified PTPRZ2 +OMIM:604008 skos:exactMatch HGNC_symbol:PTPRZ2 Unspecified PTPRZ2 +OMIM:606667 skos:exactMatch HGNC_symbol:LGR5 Unspecified LGR5 +OMIM:606667 skos:exactMatch HGNC:4504 Unspecified LGR5 +OMIM:606667 skos:exactMatch UMLS:C1537570 Unspecified LGR5 +OMIM:606668 skos:exactMatch UMLS:C1847719 Unspecified inflammatory bowel disease 8 +OMIM:263550 skos:exactMatch UMLS:C1849731 Unspecified polymyoclonus, infantile +OMIM:604009 skos:exactMatch HGNC:948 Unspecified BAIAP3 +OMIM:604009 skos:exactMatch UMLS:C1412733 Unspecified BAIAP3 +OMIM:604009 skos:exactMatch HGNC_symbol:BAIAP3 Unspecified BAIAP3 +OMIM:310400 skos:exactMatch UMLS:C0410203 Unspecified myopathy, centronuclear, X-linked +OMIM:618650 skos:exactMatch HGNC:26961 Unspecified RNF169 +OMIM:618650 skos:exactMatch HGNC_symbol:RNF169 Unspecified RNF169 +OMIM:618654 skos:exactMatch UMLS:C5231445 Unspecified myopathy, congenital, with structured cores and z-line abnormalities +OMIM:618653 skos:exactMatch ORPHA:528084 Unspecified intellectual developmental disorder with impaired language and dysmorphic facies +OMIM:618653 skos:exactMatch UMLS:C5231444 Unspecified intellectual developmental disorder with impaired language and dysmorphic facies +OMIM:618656 skos:exactMatch HGNC_symbol:PERCC1 Unspecified PERCC1 +OMIM:618656 skos:exactMatch HGNC:52293 Unspecified PERCC1 +OMIM:618647 skos:exactMatch HGNC_symbol:C1QTNF2 Unspecified C1QTNF2 +OMIM:618647 skos:exactMatch HGNC:14325 Unspecified C1QTNF2 +OMIM:618649 skos:exactMatch HGNC:20157 Unspecified HECTD1 +OMIM:618649 skos:exactMatch HGNC_symbol:HECTD1 Unspecified HECTD1 +OMIM:606672 skos:exactMatch HGNC_symbol:GP1BA Unspecified GP1BA +OMIM:606672 skos:exactMatch HGNC:4439 Unspecified GP1BA +OMIM:606672 skos:exactMatch UMLS:C1415186 Unspecified GP1BA +OMIM:606673 skos:exactMatch HGNC_symbol:UPB1 Unspecified UPB1 +OMIM:606673 skos:exactMatch UMLS:C1424165 Unspecified UPB1 +OMIM:606673 skos:exactMatch HGNC:16297 Unspecified UPB1 +OMIM:604011 skos:exactMatch HGNC_symbol:UNC119 Unspecified UNC119 +OMIM:604011 skos:exactMatch HGNC:12565 Unspecified UNC119 +OMIM:604011 skos:exactMatch UMLS:C1421355 Unspecified UNC119 +OMIM:604011 skos:exactMatch UMLS:C4085590 Unspecified UNC119 +OMIM:606670 skos:exactMatch UMLS:C1418823 Unspecified PPP1R11 +OMIM:606670 skos:exactMatch HGNC_symbol:PPP1R11 Unspecified PPP1R11 +OMIM:606670 skos:exactMatch HGNC:9285 Unspecified PPP1R11 +OMIM:606671 skos:exactMatch HGNC:15486 Unspecified NCKIPSD +OMIM:606671 skos:exactMatch HGNC_symbol:NCKIPSD Unspecified NCKIPSD +OMIM:606671 skos:exactMatch UMLS:C1423524 Unspecified NCKIPSD +OMIM:604010 skos:exactMatch HGNC_symbol:PNMA1 Unspecified PNMA1 +OMIM:604010 skos:exactMatch UMLS:C1418711 Unspecified PNMA1 +OMIM:604010 skos:exactMatch HGNC:9158 Unspecified PNMA1 +OMIM:604013 skos:exactMatch HGNC:925 Unspecified B4GALT2 +OMIM:604013 skos:exactMatch HGNC_symbol:B4GALT2 Unspecified B4GALT2 +OMIM:604013 skos:exactMatch UMLS:C1412720 Unspecified B4GALT2 +OMIM:606676 skos:exactMatch HGNC_symbol:TRPV2 Unspecified TRPV2 +OMIM:606676 skos:exactMatch UMLS:C1425290 Unspecified TRPV2 +OMIM:606676 skos:exactMatch HGNC:18082 Unspecified TRPV2 +OMIM:606677 skos:exactMatch HGNC:13258 Unspecified CLEC4C +OMIM:606677 skos:exactMatch UMLS:C1539094 Unspecified CLEC4C +OMIM:606677 skos:exactMatch HGNC_symbol:CLEC4C Unspecified CLEC4C +OMIM:604012 skos:exactMatch UMLS:C1419490 Unspecified RNU20 +OMIM:604012 skos:exactMatch HGNC_symbol:SNORD20 Unspecified RNU20 +OMIM:604012 skos:exactMatch HGNC:10143 Unspecified RNU20 +OMIM:604015 skos:exactMatch HGNC_symbol:B4GALT4 Unspecified B4GALT4 +OMIM:604015 skos:exactMatch HGNC:927 Unspecified B4GALT4 +OMIM:604015 skos:exactMatch UMLS:C1412722 Unspecified B4GALT4 +OMIM:606674 skos:exactMatch UMLS:C1847692 Unspecified inflammatory bowel disease 6 +OMIM:604014 skos:exactMatch HGNC:926 Unspecified B4GALT3 +OMIM:604014 skos:exactMatch HGNC_symbol:B4GALT3 Unspecified B4GALT3 +OMIM:604014 skos:exactMatch UMLS:C1412721 Unspecified B4GALT3 +OMIM:606675 skos:exactMatch UMLS:C1847691 Unspecified inflammatory bowel disease 4 +OMIM:606658 skos:exactMatch UMLS:C1847725 Unspecified spinocerebellar ataxia 15 +OMIM:606659 skos:exactMatch HGNC:11818 Unspecified TIMM8B +OMIM:606659 skos:exactMatch HGNC_symbol:TIMM8B Unspecified TIMM8B +OMIM:606659 skos:exactMatch UMLS:C1420741 Unspecified TIMM8B +OMIM:606657 skos:exactMatch UMLS:C1847730 Unspecified glaucoma, normal tension, susceptibility to +OMIM:263540 skos:exactMatch UMLS:C1849732 Unspecified polydactyly, postaxial, with dental and vertebral anomalies +OMIM:618640 skos:exactMatch HGNC:28972 Unspecified ZC3H3 +OMIM:618640 skos:exactMatch HGNC_symbol:ZC3H3 Unspecified ZC3H3 +OMIM:618642 skos:exactMatch HGNC:17650 Unspecified SH3RF1 +OMIM:618642 skos:exactMatch UMLS:C1822713 Unspecified SH3RF1 +OMIM:618642 skos:exactMatch HGNC_symbol:SH3RF1 Unspecified SH3RF1 +OMIM:618645 skos:exactMatch HGNC:20816 Unspecified PHF12 +OMIM:618645 skos:exactMatch HGNC_symbol:PHF12 Unspecified PHF12 +OMIM:618644 skos:exactMatch UMLS:C5231439 Unspecified osteogenesis imperfecta, iia 20 +OMIM:190070 skos:exactMatch UMLS:C1851162 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C3550163 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C3550165 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C3836560 Unspecified KRAS +OMIM:190070 skos:exactMatch HGNC:6407 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C4016288 Unspecified KRAS +OMIM:190070 skos:exactMatch HGNC_symbol:KRAS Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C4016405 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C4016400 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C4016404 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C4016403 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C4016402 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C4016401 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C5193174 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C4693979 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C1860991 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C1860985 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C3809005 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C1537502 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C2674644 Unspecified KRAS +OMIM:190070 skos:exactMatch UMLS:C3838644 Unspecified KRAS +OMIM:618636 skos:exactMatch HGNC:23155 Unspecified SLC5A10 +OMIM:618636 skos:exactMatch HGNC_symbol:SLC5A10 Unspecified SLC5A10 +OMIM:618638 skos:exactMatch HGNC:26117 Unspecified HECTD3 +OMIM:618638 skos:exactMatch HGNC_symbol:HECTD3 Unspecified HECTD3 +OMIM:618637 skos:exactMatch UMLS:C5231436 Unspecified oculopharyngeal myopathy with leukoencephalopathy 1 +OMIM:618639 skos:exactMatch UMLS:C5231436 Unspecified NUTM2BAS1 +OMIM:618639 skos:exactMatch HGNC:51204 Unspecified NUTM2BAS1 +OMIM:618639 skos:exactMatch UMLS:C3890651 Unspecified NUTM2BAS1 +OMIM:618639 skos:exactMatch HGNC_symbol:NUTM2B-AS1 Unspecified NUTM2BAS1 +OMIM:606661 skos:exactMatch UMLS:C1847723 Unspecified melanoma, uveal, susceptibility to, 2 +OMIM:606662 skos:exactMatch UMLS:C1847722 Unspecified waardenburg syndrome, iia 2c +OMIM:604000 skos:exactMatch UMLS:C1858862 Unspecified zinc finger protein 122 +OMIM:606660 skos:exactMatch UMLS:C1847724 Unspecified melanoma, uveal, susceptibility to, 1 +OMIM:606665 skos:exactMatch HGNC_symbol:OPN4 Unspecified OPN4 +OMIM:606665 skos:exactMatch HGNC:14449 Unspecified OPN4 +OMIM:606665 skos:exactMatch UMLS:C1422657 Unspecified OPN4 +OMIM:604002 skos:exactMatch HGNC_symbol:ROCK2 Unspecified ROCK2 +OMIM:604002 skos:exactMatch UMLS:C1419598 Unspecified ROCK2 +OMIM:604002 skos:exactMatch HGNC:10252 Unspecified ROCK2 +OMIM:604001 skos:exactMatch HGNC:379 Unspecified AKAP9 +OMIM:604001 skos:exactMatch UMLS:C1332072 Unspecified AKAP9 +OMIM:604001 skos:exactMatch UMLS:C1858861 Unspecified AKAP9 +OMIM:604001 skos:exactMatch HGNC_symbol:AKAP9 Unspecified AKAP9 +OMIM:606666 skos:exactMatch HGNC_symbol:LGR4 Unspecified LGR4 +OMIM:606666 skos:exactMatch HGNC:13299 Unspecified LGR4 +OMIM:606666 skos:exactMatch UMLS:C1537569 Unspecified LGR4 +OMIM:606663 skos:exactMatch UMLS:C1416899 Unspecified LOXL2 +OMIM:606663 skos:exactMatch HGNC_symbol:LOXL2 Unspecified LOXL2 +OMIM:606663 skos:exactMatch HGNC:6666 Unspecified LOXL2 +OMIM:604004 skos:exactMatch UMLS:C1858854 Unspecified megalencephalic leukoencephalopathy with subcortical cysts 1 +OMIM:604003 skos:exactMatch HGNC:2016 Unspecified CLCA2 +OMIM:604003 skos:exactMatch HGNC_symbol:CLCA2 Unspecified CLCA2 +OMIM:604003 skos:exactMatch UMLS:C1332764 Unspecified CLCA2 +OMIM:606664 skos:exactMatch UMLS:C1847720 Unspecified glycine n-methyltransferase deficiency +OMIM:606647 skos:exactMatch UMLS:C1538436 Unspecified CENTD3 +OMIM:606647 skos:exactMatch HGNC_symbol:ARAP3 Unspecified CENTD3 +OMIM:606647 skos:exactMatch HGNC:24097 Unspecified CENTD3 +OMIM:606648 skos:exactMatch HGNC_symbol:IL22RA2 Unspecified IL22RA2 +OMIM:606648 skos:exactMatch HGNC:14901 Unspecified IL22RA2 +OMIM:606648 skos:exactMatch UMLS:C1423039 Unspecified IL22RA2 +OMIM:606645 skos:exactMatch HGNC_symbol:ARAP2 Unspecified CENTD1 +OMIM:606645 skos:exactMatch HGNC:16924 Unspecified CENTD1 +OMIM:606645 skos:exactMatch UMLS:C1424639 Unspecified CENTD1 +OMIM:606646 skos:exactMatch HGNC_symbol:ARAP1 Unspecified CENTD2 +OMIM:606646 skos:exactMatch HGNC:16925 Unspecified CENTD2 +OMIM:606646 skos:exactMatch UMLS:C1424640 Unspecified CENTD2 +OMIM:606649 skos:exactMatch UMLS:C1422066 Unspecified HIVEP3 +OMIM:606649 skos:exactMatch HGNC_symbol:HIVEP3 Unspecified HIVEP3 +OMIM:606649 skos:exactMatch HGNC:13561 Unspecified HIVEP3 +OMIM:618630 skos:exactMatch HGNC_symbol:TRMT112 Unspecified TRMT112 +OMIM:618630 skos:exactMatch HGNC:26940 Unspecified TRMT112 +OMIM:618631 skos:exactMatch HGNC_symbol:NRDE2 Unspecified NRDE2 +OMIM:618631 skos:exactMatch HGNC:20186 Unspecified NRDE2 +OMIM:618634 skos:exactMatch HGNC:17567 Unspecified DLEU7 +OMIM:618634 skos:exactMatch HGNC_symbol:DLEU7 Unspecified DLEU7 +OMIM:618633 skos:exactMatch HGNC_symbol:SLC5A4 Unspecified SLC5A4 +OMIM:618633 skos:exactMatch HGNC:11039 Unspecified SLC5A4 +OMIM:618625 skos:exactMatch UMLS:C5231433 Unspecified rothmund-thomson syndrome, iia 1 +OMIM:618625 skos:exactMatch ORPHA:221008 Unspecified rothmund-thomson syndrome, iia 1 +OMIM:618625 skos:exactMatch UMLS:C0032339 Unspecified rothmund-thomson syndrome, iia 1 +OMIM:618627 skos:exactMatch HGNC:23843 Unspecified GMCL1 +OMIM:618627 skos:exactMatch HGNC_symbol:GMCL1 Unspecified GMCL1 +OMIM:190080 skos:exactMatch HGNC_symbol:MYC Unspecified MYC +OMIM:190080 skos:exactMatch HGNC:7553 Unspecified MYC +OMIM:190080 skos:exactMatch UMLS:C0086661 Unspecified MYC +OMIM:190080 skos:exactMatch UMLS:C5193175 Unspecified MYC +OMIM:618626 skos:exactMatch HGNC:16200 Unspecified PCIF1 +OMIM:618626 skos:exactMatch HGNC_symbol:PCIF1 Unspecified PCIF1 +OMIM:618629 skos:exactMatch HGNC:19717 Unspecified GMCL2 +OMIM:618629 skos:exactMatch HGNC_symbol:GMCL2 Unspecified GMCL2 +OMIM:618628 skos:exactMatch HGNC_symbol:METTL5 Unspecified METTL5 +OMIM:618628 skos:exactMatch HGNC:25006 Unspecified METTL5 +OMIM:309400 skos:exactMatch ORPHA:565 Unspecified menkes disease +OMIM:309400 skos:exactMatch UMLS:C0022716 Unspecified menkes disease +OMIM:606650 skos:exactMatch HGNC_symbol:GRIN3A Unspecified GRIN3A +OMIM:606650 skos:exactMatch HGNC:16767 Unspecified GRIN3A +OMIM:606650 skos:exactMatch UMLS:C1424528 Unspecified GRIN3A +OMIM:606651 skos:exactMatch HGNC_symbol:GRIN3B Unspecified GRIN3B +OMIM:606651 skos:exactMatch HGNC:16768 Unspecified GRIN3B +OMIM:606651 skos:exactMatch UMLS:C1424529 Unspecified GRIN3B +OMIM:606654 skos:exactMatch UMLS:C1826958 Unspecified RXFP1 +OMIM:606654 skos:exactMatch HGNC_symbol:RXFP1 Unspecified RXFP1 +OMIM:606654 skos:exactMatch HGNC:19718 Unspecified RXFP1 +OMIM:606655 skos:exactMatch UMLS:C4015968 Unspecified RXFP2 +OMIM:606655 skos:exactMatch HGNC:17318 Unspecified RXFP2 +OMIM:606655 skos:exactMatch HGNC_symbol:RXFP2 Unspecified RXFP2 +OMIM:606655 skos:exactMatch UMLS:C1424898 Unspecified RXFP2 +OMIM:606652 skos:exactMatch UMLS:C1425514 Unspecified HAVCR2 +OMIM:606652 skos:exactMatch HGNC_symbol:HAVCR2 Unspecified HAVCR2 +OMIM:606652 skos:exactMatch HGNC:18437 Unspecified HAVCR2 +OMIM:606653 skos:exactMatch HGNC_symbol:LGR6 Unspecified LGR6 +OMIM:606653 skos:exactMatch UMLS:C1426357 Unspecified LGR6 +OMIM:606653 skos:exactMatch HGNC:19719 Unspecified LGR6 +OMIM:616040 skos:exactMatch UMLS:C4015038 Unspecified myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant +OMIM:616041 skos:exactMatch UMLS:C2828981 Unspecified TSTD1 +OMIM:616041 skos:exactMatch HGNC:35410 Unspecified TSTD1 +OMIM:616041 skos:exactMatch HGNC_symbol:TSTD1 Unspecified TSTD1 +OMIM:616042 skos:exactMatch UMLS:C4015050 Unspecified deafness, autosomal recessive 103 +OMIM:616043 skos:exactMatch HGNC_symbol:PCAT1 Unspecified PCAT1 +OMIM:616043 skos:exactMatch HGNC:43022 Unspecified PCAT1 +OMIM:616043 skos:exactMatch UMLS:C3471356 Unspecified PCAT1 +OMIM:616044 skos:exactMatch UMLS:C3892048 Unspecified deafness, autosomal dominant 65 +OMIM:263520 skos:exactMatch UMLS:C0024507 Unspecified short-rib thoracic dysplasia 6 with or without polydactyly +OMIM:263520 skos:exactMatch ORPHA:93269 Unspecified short-rib thoracic dysplasia 6 with or without polydactyly +OMIM:616045 skos:exactMatch UMLS:C4015062 Unspecified combined oxidative phosphorylation deficiency 22 +OMIM:616045 skos:exactMatch ORPHA:254913 Unspecified combined oxidative phosphorylation deficiency 22 +OMIM:616046 skos:exactMatch UMLS:C1419052 Unspecified PSTPIP2 +OMIM:616046 skos:exactMatch HGNC:9581 Unspecified PSTPIP2 +OMIM:616046 skos:exactMatch HGNC_symbol:PSTPIP2 Unspecified PSTPIP2 +OMIM:616047 skos:exactMatch UMLS:C1537471 Unspecified CFAP97 +OMIM:616047 skos:exactMatch HGNC:29276 Unspecified CFAP97 +OMIM:616047 skos:exactMatch HGNC_symbol:CFAP97 Unspecified CFAP97 +OMIM:616048 skos:exactMatch HGNC_symbol:APTR Unspecified APTR +OMIM:616048 skos:exactMatch UMLS:C3816838 Unspecified APTR +OMIM:616048 skos:exactMatch HGNC:44173 Unspecified APTR +OMIM:616049 skos:exactMatch UMLS:C1423699 Unspecified TOMM34 +OMIM:616049 skos:exactMatch HGNC_symbol:TOMM34 Unspecified TOMM34 +OMIM:616049 skos:exactMatch HGNC:15746 Unspecified TOMM34 +OMIM:616039 skos:exactMatch UMLS:C4015029 Unspecified charcot-marie-tooth disease, recessive intermediate d +OMIM:604060 skos:exactMatch UMLS:C1858840 Unspecified deafness, autosomal recessive 20 +OMIM:604062 skos:exactMatch HGNC:17556 Unspecified MED16 +OMIM:604062 skos:exactMatch HGNC_symbol:MED16 Unspecified MED16 +OMIM:604062 skos:exactMatch UMLS:C1424995 Unspecified MED16 +OMIM:604061 skos:exactMatch UMLS:C1539750 Unspecified SEPT9 +OMIM:604061 skos:exactMatch HGNC:7323 Unspecified SEPT9 +OMIM:604061 skos:exactMatch HGNC_symbol:SEPTIN9 Unspecified SEPT9 +OMIM:604064 skos:exactMatch HGNC_symbol:ATF4 Unspecified ATF4 +OMIM:604064 skos:exactMatch HGNC:786 Unspecified ATF4 +OMIM:604064 skos:exactMatch UMLS:C1412617 Unspecified ATF4 +OMIM:604063 skos:exactMatch UMLS:C1416490 Unspecified ITGA8 +OMIM:604063 skos:exactMatch HGNC_symbol:ITGA8 Unspecified ITGA8 +OMIM:604063 skos:exactMatch HGNC:6144 Unspecified ITGA8 +OMIM:604066 skos:exactMatch HGNC_symbol:B3GALT5 Unspecified B3GALT5 +OMIM:604066 skos:exactMatch HGNC:920 Unspecified B3GALT5 +OMIM:604066 skos:exactMatch UMLS:C1412715 Unspecified B3GALT5 +OMIM:604065 skos:exactMatch HGNC:1394 Unspecified CACNA1G +OMIM:604065 skos:exactMatch HGNC_symbol:CACNA1G Unspecified CACNA1G +OMIM:604065 skos:exactMatch UMLS:C1413061 Unspecified CACNA1G +OMIM:604068 skos:exactMatch HGNC:12005 Unspecified TPD52 +OMIM:604068 skos:exactMatch HGNC_symbol:TPD52 Unspecified TPD52 +OMIM:604068 skos:exactMatch UMLS:C1336662 Unspecified TPD52 +OMIM:604067 skos:exactMatch UMLS:C1419378 Unspecified RGS9 +OMIM:604067 skos:exactMatch HGNC:10004 Unspecified RGS9 +OMIM:604067 skos:exactMatch HGNC_symbol:RGS9 Unspecified RGS9 +OMIM:604069 skos:exactMatch HGNC:12006 Unspecified TPD52L1 +OMIM:604069 skos:exactMatch UMLS:C1336661 Unspecified TPD52L1 +OMIM:604069 skos:exactMatch HGNC_symbol:TPD52L1 Unspecified TPD52L1 +OMIM:604049 skos:exactMatch HGNC_symbol:XYLB Unspecified XYLB +OMIM:604049 skos:exactMatch HGNC:12839 Unspecified XYLB +OMIM:604049 skos:exactMatch UMLS:C1421552 Unspecified XYLB +OMIM:618690 skos:exactMatch HGNC:17203 Unspecified PSORS1C3 +OMIM:618690 skos:exactMatch HGNC_symbol:PSORS1C3 Unspecified PSORS1C3 +OMIM:618692 skos:exactMatch UMLS:C1540180 Unspecified VGLL4 +OMIM:618692 skos:exactMatch HGNC_symbol:VGLL4 Unspecified VGLL4 +OMIM:618692 skos:exactMatch HGNC:28966 Unspecified VGLL4 +OMIM:618691 skos:exactMatch HGNC_symbol:TMEM266 Unspecified TMEM266 +OMIM:618691 skos:exactMatch HGNC:26763 Unspecified TMEM266 +OMIM:616030 skos:exactMatch UMLS:C4014988 Unspecified hypogonadotropic hypogonadism 22 with or without anosmia +OMIM:618694 skos:exactMatch UMLS:C1423849 Unspecified CELA3B +OMIM:618694 skos:exactMatch HGNC_symbol:CELA3B Unspecified CELA3B +OMIM:618694 skos:exactMatch UMLS:C2986382 Unspecified CELA3B +OMIM:618694 skos:exactMatch HGNC:15945 Unspecified CELA3B +OMIM:616031 skos:exactMatch HGNC:26821 Unspecified CCDC141 +OMIM:616031 skos:exactMatch UMLS:C2240346 Unspecified CCDC141 +OMIM:616031 skos:exactMatch HGNC_symbol:CCDC141 Unspecified CCDC141 +OMIM:618693 skos:exactMatch HGNC_symbol:CELA3A Unspecified CELA3A +OMIM:618693 skos:exactMatch HGNC:15944 Unspecified CELA3A +OMIM:616032 skos:exactMatch UMLS:C4014993 Unspecified focal segmental glomerulosclerosis 8 +OMIM:616033 skos:exactMatch UMLS:C4014997 Unspecified microcephaly, short stature, and impaired glucose metabolism 1 +OMIM:618696 skos:exactMatch HGNC_symbol:GFY Unspecified GFY +OMIM:618696 skos:exactMatch HGNC:44663 Unspecified GFY +OMIM:616034 skos:exactMatch UMLS:C1857252 Unspecified 2,4-dienoyl-coa reductase deficiency +OMIM:616034 skos:exactMatch ORPHA:431361 Unspecified 2,4-dienoyl-coa reductase deficiency +OMIM:616035 skos:exactMatch HGNC_symbol:FOXJ3 Unspecified FOXJ3 +OMIM:616035 skos:exactMatch HGNC:29178 Unspecified FOXJ3 +OMIM:616035 skos:exactMatch UMLS:C1428808 Unspecified FOXJ3 +OMIM:310440 skos:exactMatch UMLS:C1839615 Unspecified myopathy, x-linked, with excessive autophagy +OMIM:310440 skos:exactMatch ORPHA:25980 Unspecified myopathy, x-linked, with excessive autophagy +OMIM:618698 skos:exactMatch UMLS:C2239362 Unspecified DUXB +OMIM:618698 skos:exactMatch HGNC_symbol:DUXB Unspecified DUXB +OMIM:618698 skos:exactMatch HGNC:33345 Unspecified DUXB +OMIM:618697 skos:exactMatch UMLS:C5231465 Unspecified retinitis pigmentosa 87 with choroidal involvement +OMIM:618697 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 87 with choroidal involvement +OMIM:616036 skos:exactMatch UMLS:C1826048 Unspecified MIR494 +OMIM:616036 skos:exactMatch HGNC_symbol:MIR494 Unspecified MIR494 +OMIM:616036 skos:exactMatch HGNC:32084 Unspecified MIR494 +OMIM:616037 skos:exactMatch UMLS:C4015016 Unspecified ciliary dyskinesia, primary, 30 +OMIM:618699 skos:exactMatch UMLS:C5231466 Unspecified ciliary dyskinesia, primary, 43 +OMIM:616038 skos:exactMatch UMLS:C4015019 Unspecified neu-laxova syndrome 2 +OMIM:616028 skos:exactMatch UMLS:C4014970 Unspecified adams-oliver syndrome 5 +OMIM:616029 skos:exactMatch UMLS:C4014987 Unspecified ectodermal dysplasia/short stature syndrome +OMIM:604051 skos:exactMatch HGNC:3347 Unspecified EXOG +OMIM:604051 skos:exactMatch UMLS:C1414400 Unspecified EXOG +OMIM:604051 skos:exactMatch HGNC_symbol:EXOG Unspecified EXOG +OMIM:604050 skos:exactMatch HGNC_symbol:DLEC1 Unspecified DLEC1 +OMIM:604050 skos:exactMatch HGNC:2899 Unspecified DLEC1 +OMIM:604050 skos:exactMatch UMLS:C1333219 Unspecified DLEC1 +OMIM:604053 skos:exactMatch UMLS:C1412817 Unspecified BPNT1 +OMIM:604053 skos:exactMatch HGNC_symbol:BPNT1 Unspecified BPNT1 +OMIM:604053 skos:exactMatch HGNC:1096 Unspecified BPNT1 +OMIM:604052 skos:exactMatch HGNC:11931 Unspecified TNFSF15 +OMIM:604052 skos:exactMatch HGNC_symbol:TNFSF15 Unspecified TNFSF15 +OMIM:604052 skos:exactMatch UMLS:C1336647 Unspecified TNFSF15 +OMIM:604055 skos:exactMatch HGNC:5387 Unspecified IDI1 +OMIM:604055 skos:exactMatch UMLS:C1415881 Unspecified IDI1 +OMIM:604055 skos:exactMatch HGNC_symbol:IDI1 Unspecified IDI1 +OMIM:604054 skos:exactMatch HGNC_symbol:ACAA1 Unspecified ACAA1 +OMIM:604054 skos:exactMatch HGNC:82 Unspecified ACAA1 +OMIM:604054 skos:exactMatch UMLS:C1412102 Unspecified ACAA1 +OMIM:604057 skos:exactMatch HGNC:5196 Unspecified HS3ST3A1 +OMIM:604057 skos:exactMatch HGNC_symbol:HS3ST3A1 Unspecified HS3ST3A1 +OMIM:604057 skos:exactMatch UMLS:C1415729 Unspecified HS3ST3A1 +OMIM:604056 skos:exactMatch HGNC:5195 Unspecified HS3ST2 +OMIM:604056 skos:exactMatch HGNC_symbol:HS3ST2 Unspecified HS3ST2 +OMIM:604056 skos:exactMatch UMLS:C1415728 Unspecified HS3ST2 +OMIM:604059 skos:exactMatch HGNC:5200 Unspecified HS3ST4 +OMIM:604059 skos:exactMatch HGNC_symbol:HS3ST4 Unspecified HS3ST4 +OMIM:604059 skos:exactMatch UMLS:C1415733 Unspecified HS3ST4 +OMIM:604058 skos:exactMatch HGNC:5198 Unspecified HS3ST3B1 +OMIM:604058 skos:exactMatch HGNC_symbol:HS3ST3B1 Unspecified HS3ST3B1 +OMIM:604058 skos:exactMatch UMLS:C1415731 Unspecified HS3ST3B1 +OMIM:604039 skos:exactMatch HGNC:7056 Unspecified OGA +OMIM:604039 skos:exactMatch HGNC_symbol:OGA Unspecified OGA +OMIM:604039 skos:exactMatch UMLS:C1417143 Unspecified OGA +OMIM:604038 skos:exactMatch HGNC_symbol:HYAL3 Unspecified HYAL3 +OMIM:604038 skos:exactMatch UMLS:C1415827 Unspecified HYAL3 +OMIM:604038 skos:exactMatch HGNC:5322 Unspecified HYAL3 +OMIM:618680 skos:exactMatch UMLS:C5231459 Unspecified pancreatic cancer, susceptibility to, 5 +OMIM:616020 skos:exactMatch UMLS:C1424144 Unspecified CYYR1 +OMIM:616020 skos:exactMatch HGNC_symbol:CYYR1 Unspecified CYYR1 +OMIM:616020 skos:exactMatch HGNC:16274 Unspecified CYYR1 +OMIM:618682 skos:exactMatch HGNC_symbol:CFAP276 Unspecified CFAP276 +OMIM:618682 skos:exactMatch HGNC:32331 Unspecified CFAP276 +OMIM:618682 skos:exactMatch UMLS:C1823808 Unspecified CFAP276 +OMIM:616021 skos:exactMatch HGNC:39560 Unspecified CYYR1AS1 +OMIM:616021 skos:exactMatch UMLS:C3889797 Unspecified CYYR1AS1 +OMIM:616021 skos:exactMatch HGNC_symbol:CYYR1-AS1 Unspecified CYYR1AS1 +OMIM:616022 skos:exactMatch UMLS:C4014954 Unspecified neutropenia, severe congenital, 6, autosomal recessive +OMIM:618685 skos:exactMatch HGNC_symbol:TMEM63A Unspecified TMEM63A +OMIM:618685 skos:exactMatch HGNC:29118 Unspecified TMEM63A +OMIM:616023 skos:exactMatch HGNC:19304 Unspecified SCAF4 +OMIM:616023 skos:exactMatch UMLS:C2986382 Unspecified SCAF4 +OMIM:616023 skos:exactMatch HGNC_symbol:SCAF4 Unspecified SCAF4 +OMIM:616023 skos:exactMatch UMLS:C1426151 Unspecified SCAF4 +OMIM:616024 skos:exactMatch HGNC:20959 Unspecified SCAF8 +OMIM:616024 skos:exactMatch UMLS:C1427210 Unspecified SCAF8 +OMIM:616024 skos:exactMatch HGNC_symbol:SCAF8 Unspecified SCAF8 +OMIM:616025 skos:exactMatch UMLS:C4014958 Unspecified glycosylphosphatidylinositol biosynthesis defect 11 +OMIM:616025 skos:exactMatch ORPHA:247262 Unspecified glycosylphosphatidylinositol biosynthesis defect 11 +OMIM:618686 skos:exactMatch HGNC:26554 Unspecified TEKT5 +OMIM:618686 skos:exactMatch HGNC_symbol:TEKT5 Unspecified TEKT5 +OMIM:618689 skos:exactMatch HGNC:14288 Unspecified NTNG2 +OMIM:618689 skos:exactMatch UMLS:C5231471 Unspecified NTNG2 +OMIM:618689 skos:exactMatch UMLS:C1422545 Unspecified NTNG2 +OMIM:618689 skos:exactMatch HGNC_symbol:NTNG2 Unspecified NTNG2 +OMIM:616026 skos:exactMatch UMLS:C4014962 Unspecified fanconi renotubular syndrome 4 with maturity-onset diabetes of the young +OMIM:616027 skos:exactMatch HGNC:14082 Unspecified ANLN +OMIM:616027 skos:exactMatch HGNC_symbol:ANLN Unspecified ANLN +OMIM:616027 skos:exactMatch UMLS:C1422396 Unspecified ANLN +OMIM:131705 skos:exactMatch UMLS:C1851573 Unspecified transient bullous dermolysis of the newborn +OMIM:616017 skos:exactMatch HGNC:17857 Unspecified TRIM69 +OMIM:616017 skos:exactMatch UMLS:C1823491 Unspecified TRIM69 +OMIM:616017 skos:exactMatch HGNC_symbol:TRIM69 Unspecified TRIM69 +OMIM:618679 skos:exactMatch HGNC:13821 Unspecified GFRA4 +OMIM:618679 skos:exactMatch HGNC_symbol:GFRA4 Unspecified GFRA4 +OMIM:616019 skos:exactMatch HGNC_symbol:RCOR2 Unspecified RCOR2 +OMIM:616019 skos:exactMatch HGNC:27455 Unspecified RCOR2 +OMIM:616019 skos:exactMatch UMLS:C1538821 Unspecified RCOR2 +OMIM:604040 skos:exactMatch UMLS:C1419239 Unspecified RAD50 +OMIM:604040 skos:exactMatch HGNC_symbol:RAD50 Unspecified RAD50 +OMIM:604040 skos:exactMatch HGNC:9816 Unspecified RAD50 +OMIM:604042 skos:exactMatch HGNC_symbol:ITGA10 Unspecified ITGA10 +OMIM:604042 skos:exactMatch HGNC:6135 Unspecified ITGA10 +OMIM:604042 skos:exactMatch UMLS:C1416482 Unspecified ITGA10 +OMIM:604041 skos:exactMatch UMLS:C1417235 Unspecified MPDU1 +OMIM:604041 skos:exactMatch HGNC_symbol:MPDU1 Unspecified MPDU1 +OMIM:604041 skos:exactMatch HGNC:7207 Unspecified MPDU1 +OMIM:604044 skos:exactMatch HGNC:7746 Unspecified NEK3 +OMIM:604044 skos:exactMatch HGNC_symbol:NEK3 Unspecified NEK3 +OMIM:604044 skos:exactMatch UMLS:C1417673 Unspecified NEK3 +OMIM:604043 skos:exactMatch HGNC:7745 Unspecified NEK2 +OMIM:604043 skos:exactMatch HGNC_symbol:NEK2 Unspecified NEK2 +OMIM:604043 skos:exactMatch UMLS:C1417672 Unspecified NEK2 +OMIM:604043 skos:exactMatch UMLS:C3809954 Unspecified NEK2 +OMIM:604046 skos:exactMatch HGNC:8508 Unspecified OXSR1 +OMIM:604046 skos:exactMatch UMLS:C1540365 Unspecified OXSR1 +OMIM:604046 skos:exactMatch HGNC_symbol:OXSR1 Unspecified OXSR1 +OMIM:604045 skos:exactMatch HGNC_symbol:PRMT5 Unspecified PRMT5 +OMIM:604045 skos:exactMatch UMLS:C1826700 Unspecified PRMT5 +OMIM:604045 skos:exactMatch HGNC:10894 Unspecified PRMT5 +OMIM:604048 skos:exactMatch HGNC:8495 Unspecified SLC22A14 +OMIM:604048 skos:exactMatch UMLS:C1418183 Unspecified SLC22A14 +OMIM:604048 skos:exactMatch HGNC_symbol:SLC22A14 Unspecified SLC22A14 +OMIM:604047 skos:exactMatch HGNC:8494 Unspecified SLC22A13 +OMIM:604047 skos:exactMatch UMLS:C1418182 Unspecified SLC22A13 +OMIM:604047 skos:exactMatch HGNC_symbol:SLC22A13 Unspecified SLC22A13 +OMIM:604028 skos:exactMatch HGNC:16828 Unspecified SEC22C +OMIM:604028 skos:exactMatch UMLS:C1822668 Unspecified SEC22C +OMIM:604028 skos:exactMatch HGNC_symbol:SEC22C Unspecified SEC22C +OMIM:604027 skos:exactMatch HGNC_symbol:GOSR2 Unspecified GOSR2 +OMIM:604027 skos:exactMatch HGNC:4431 Unspecified GOSR2 +OMIM:604027 skos:exactMatch UMLS:C1415180 Unspecified GOSR2 +OMIM:606689 skos:exactMatch UMLS:C3887942 Unspecified glaucoma 1, open angle, B +OMIM:604029 skos:exactMatch UMLS:C1419924 Unspecified SEC22B +OMIM:604029 skos:exactMatch HGNC_symbol:SEC22B Unspecified SEC22B +OMIM:604029 skos:exactMatch HGNC:10700 Unspecified SEC22B +OMIM:618672 skos:exactMatch UMLS:C5231456 Unspecified intellectual developmental disorder with speech delay, autism, and dysmorphic facies +OMIM:618671 skos:exactMatch HGNC_symbol:ZDHHC19 Unspecified ZDHHC19 +OMIM:618671 skos:exactMatch UMLS:C1427090 Unspecified ZDHHC19 +OMIM:618671 skos:exactMatch HGNC:20713 Unspecified ZDHHC19 +OMIM:616010 skos:exactMatch UMLS:C1424524 Unspecified COPS7B +OMIM:616010 skos:exactMatch HGNC_symbol:COPS7B Unspecified COPS7B +OMIM:616010 skos:exactMatch HGNC:16760 Unspecified COPS7B +OMIM:616011 skos:exactMatch HGNC_symbol:COPS8 Unspecified COPS8 +OMIM:616011 skos:exactMatch HGNC:24335 Unspecified COPS8 +OMIM:616011 skos:exactMatch UMLS:C1428371 Unspecified COPS8 +OMIM:618673 skos:exactMatch HGNC:25820 Unspecified ZYG11B +OMIM:618673 skos:exactMatch HGNC_symbol:ZYG11B Unspecified ZYG11B +OMIM:616012 skos:exactMatch HGNC:26926 Unspecified JAGN1 +OMIM:616012 skos:exactMatch HGNC_symbol:JAGN1 Unspecified JAGN1 +OMIM:616012 skos:exactMatch UMLS:C1537430 Unspecified JAGN1 +OMIM:616013 skos:exactMatch HGNC:28403 Unspecified TRMT10A +OMIM:616013 skos:exactMatch HGNC_symbol:TRMT10A Unspecified TRMT10A +OMIM:616013 skos:exactMatch UMLS:C1428703 Unspecified TRMT10A +OMIM:618676 skos:exactMatch HGNC_symbol:ZBTB43 Unspecified ZBTB43 +OMIM:618676 skos:exactMatch HGNC:17908 Unspecified ZBTB43 +OMIM:616014 skos:exactMatch HGNC:14662 Unspecified RNF25 +OMIM:616014 skos:exactMatch HGNC_symbol:RNF25 Unspecified RNF25 +OMIM:616014 skos:exactMatch UMLS:C1422821 Unspecified RNF25 +OMIM:618675 skos:exactMatch HGNC:32058 Unspecified ZYG11A +OMIM:618675 skos:exactMatch HGNC_symbol:ZYG11A Unspecified ZYG11A +OMIM:618678 skos:exactMatch HGNC:26459 Unspecified CES5A +OMIM:618678 skos:exactMatch HGNC_symbol:CES5A Unspecified CES5A +OMIM:616015 skos:exactMatch HGNC:27752 Unspecified RNF180 +OMIM:616015 skos:exactMatch HGNC_symbol:RNF180 Unspecified RNF180 +OMIM:616015 skos:exactMatch UMLS:C1538869 Unspecified RNF180 +OMIM:616016 skos:exactMatch UMLS:C1425621 Unspecified PPM1H +OMIM:616016 skos:exactMatch HGNC:18583 Unspecified PPM1H +OMIM:616016 skos:exactMatch HGNC_symbol:PPM1H Unspecified PPM1H +OMIM:616006 skos:exactMatch UMLS:C4014939 Unspecified hennekam lymphangiectasia-lymphedema syndrome 2 +OMIM:618669 skos:exactMatch HGNC:26465 Unspecified YTHDF3 +OMIM:618669 skos:exactMatch HGNC_symbol:YTHDF3 Unspecified YTHDF3 +OMIM:618669 skos:exactMatch UMLS:C1538136 Unspecified YTHDF3 +OMIM:616007 skos:exactMatch UMLS:C4014942 Unspecified cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia +OMIM:618668 skos:exactMatch HGNC:17969 Unspecified GABRR3 +OMIM:618668 skos:exactMatch HGNC_symbol:GABRR3 Unspecified GABRR3 +OMIM:616008 skos:exactMatch HGNC:16702 Unspecified COPS4 +OMIM:616008 skos:exactMatch HGNC_symbol:COPS4 Unspecified COPS4 +OMIM:616008 skos:exactMatch UMLS:C1424491 Unspecified COPS4 +OMIM:616009 skos:exactMatch HGNC_symbol:COPS7A Unspecified COPS7A +OMIM:616009 skos:exactMatch HGNC:16758 Unspecified COPS7A +OMIM:616009 skos:exactMatch UMLS:C1424522 Unspecified COPS7A +OMIM:606690 skos:exactMatch UMLS:C0751674 Unspecified lymphangioleiomyomatosis +OMIM:606691 skos:exactMatch HGNC:31951 Unspecified CEACAM19 +OMIM:606691 skos:exactMatch HGNC_symbol:CEACAM19 Unspecified CEACAM19 +OMIM:606691 skos:exactMatch UMLS:C1824695 Unspecified CEACAM19 +OMIM:606694 skos:exactMatch UMLS:C1417893 Unspecified NUP155 +OMIM:606694 skos:exactMatch HGNC_symbol:NUP155 Unspecified NUP155 +OMIM:606694 skos:exactMatch HGNC:8063 Unspecified NUP155 +OMIM:604031 skos:exactMatch HGNC_symbol:SCD Unspecified SCD +OMIM:604031 skos:exactMatch UMLS:C1419846 Unspecified SCD +OMIM:604031 skos:exactMatch HGNC:10571 Unspecified SCD +OMIM:606695 skos:exactMatch UMLS:C1422343 Unspecified OPN3 +OMIM:606695 skos:exactMatch HGNC_symbol:OPN3 Unspecified OPN3 +OMIM:606695 skos:exactMatch HGNC:14007 Unspecified OPN3 +OMIM:604030 skos:exactMatch UMLS:C1419017 Unspecified PSMB7 +OMIM:604030 skos:exactMatch HGNC_symbol:PSMB7 Unspecified PSMB7 +OMIM:604030 skos:exactMatch HGNC:9544 Unspecified PSMB7 +OMIM:604033 skos:exactMatch HGNC_symbol:ERN1 Unspecified ERN1 +OMIM:604033 skos:exactMatch HGNC:3449 Unspecified ERN1 +OMIM:604033 skos:exactMatch UMLS:C1414444 Unspecified ERN1 +OMIM:606692 skos:exactMatch HGNC_symbol:TRAF7 Unspecified TRAF7 +OMIM:606692 skos:exactMatch UMLS:C1540047 Unspecified TRAF7 +OMIM:606692 skos:exactMatch HGNC:20456 Unspecified TRAF7 +OMIM:604032 skos:exactMatch HGNC_symbol:EIF2AK3 Unspecified EIF2AK3 +OMIM:604032 skos:exactMatch HGNC:3255 Unspecified EIF2AK3 +OMIM:604032 skos:exactMatch UMLS:C1414326 Unspecified EIF2AK3 +OMIM:606693 skos:exactMatch ORPHA:306674 Unspecified kufor-rakeb syndrome +OMIM:606693 skos:exactMatch ORPHA:314632 Unspecified kufor-rakeb syndrome +OMIM:606693 skos:exactMatch UMLS:C1847640 Unspecified kufor-rakeb syndrome +OMIM:604035 skos:exactMatch UMLS:C1413849 Unspecified CYLC2 +OMIM:604035 skos:exactMatch HGNC_symbol:CYLC2 Unspecified CYLC2 +OMIM:604035 skos:exactMatch HGNC:2583 Unspecified CYLC2 +OMIM:606698 skos:exactMatch HGNC_symbol:SOX30 Unspecified None +OMIM:606698 skos:exactMatch HGNC:30635 Unspecified None +OMIM:606698 skos:exactMatch UMLS:C1539806 Unspecified None +OMIM:604034 skos:exactMatch HGNC_symbol:ERN2 Unspecified ERN2 +OMIM:604034 skos:exactMatch HGNC:16942 Unspecified ERN2 +OMIM:604034 skos:exactMatch UMLS:C1424653 Unspecified ERN2 +OMIM:606699 skos:exactMatch HGNC:16878 Unspecified HELZ +OMIM:606699 skos:exactMatch UMLS:C1424612 Unspecified HELZ +OMIM:606699 skos:exactMatch HGNC_symbol:HELZ Unspecified HELZ +OMIM:604037 skos:exactMatch HGNC:9785 Unspecified RAB5C +OMIM:604037 skos:exactMatch UMLS:C1419214 Unspecified RAB5C +OMIM:604037 skos:exactMatch HGNC_symbol:RAB5C Unspecified RAB5C +OMIM:606696 skos:exactMatch HGNC:6216 Unspecified KATNA1 +OMIM:606696 skos:exactMatch UMLS:C1416541 Unspecified KATNA1 +OMIM:606696 skos:exactMatch HGNC_symbol:KATNA1 Unspecified KATNA1 +OMIM:604036 skos:exactMatch UMLS:C1413170 Unspecified CCNA1 +OMIM:604036 skos:exactMatch HGNC_symbol:CCNA1 Unspecified CCNA1 +OMIM:604036 skos:exactMatch HGNC:1577 Unspecified CCNA1 +OMIM:606697 skos:exactMatch HGNC:20878 Unspecified None +OMIM:606697 skos:exactMatch HGNC_symbol:ZNF443 Unspecified None +OMIM:606697 skos:exactMatch UMLS:C1427184 Unspecified None +OMIM:616080 skos:exactMatch UMLS:C4015156 Unspecified microcephaly 12, primary, autosomal recessive +OMIM:616081 skos:exactMatch UMLS:C4015160 Unspecified pontocerebellar hypoplasia, iia 1c +OMIM:616082 skos:exactMatch HGNC:1184 Unspecified C12ORF4 +OMIM:616082 skos:exactMatch HGNC_symbol:C12orf4 Unspecified C12ORF4 +OMIM:616082 skos:exactMatch UMLS:C1412881 Unspecified C12ORF4 +OMIM:616083 skos:exactMatch UMLS:C4015167 Unspecified intellectual developmental disorder, autosomal dominant 30 +OMIM:616084 skos:exactMatch UMLS:C4015172 Unspecified sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay +OMIM:616085 skos:exactMatch HGNC_symbol:ZNF37A Unspecified ZNF37A +OMIM:616085 skos:exactMatch HGNC:13102 Unspecified ZNF37A +OMIM:616085 skos:exactMatch UMLS:C1421793 Unspecified ZNF37A +OMIM:616086 skos:exactMatch HGNC_symbol:SPRTN Unspecified SPRTN +OMIM:616086 skos:exactMatch UMLS:C1823744 Unspecified SPRTN +OMIM:616086 skos:exactMatch HGNC:25356 Unspecified SPRTN +OMIM:616087 skos:exactMatch UMLS:C4015183 Unspecified iia 2 diabetes 5 +OMIM:616088 skos:exactMatch UMLS:C1823800 Unspecified RHEX +OMIM:616088 skos:exactMatch HGNC_symbol:RHEX Unspecified RHEX +OMIM:616088 skos:exactMatch HGNC:25341 Unspecified RHEX +OMIM:616089 skos:exactMatch UMLS:C1292300 Unspecified blood group, gerbich system +OMIM:251505 skos:exactMatch UMLS:C1855053 Unspecified microphthalmia, isolated, with coloboma 4 +OMIM:616070 skos:exactMatch UMLS:C1824642 Unspecified CCDC113 +OMIM:616070 skos:exactMatch HGNC_symbol:CCDC113 Unspecified CCDC113 +OMIM:616070 skos:exactMatch HGNC:25002 Unspecified CCDC113 +OMIM:616071 skos:exactMatch HGNC:21722 Unspecified C7ORF31 +OMIM:616071 skos:exactMatch UMLS:C1427719 Unspecified C7ORF31 +OMIM:616071 skos:exactMatch HGNC_symbol:C7orf31 Unspecified C7ORF31 +OMIM:616072 skos:exactMatch UMLS:C1825523 Unspecified HP1BP3 +OMIM:616072 skos:exactMatch HGNC_symbol:HP1BP3 Unspecified HP1BP3 +OMIM:616072 skos:exactMatch HGNC:24973 Unspecified HP1BP3 +OMIM:616073 skos:exactMatch HGNC_symbol:DEPDC1B Unspecified DEPDC1B +OMIM:616073 skos:exactMatch UMLS:C1539267 Unspecified DEPDC1B +OMIM:616073 skos:exactMatch HGNC:24902 Unspecified DEPDC1B +OMIM:616074 skos:exactMatch UMLS:C1421906 Unspecified CKLF +OMIM:616074 skos:exactMatch HGNC_symbol:CKLF Unspecified CKLF +OMIM:616074 skos:exactMatch HGNC:13253 Unspecified CKLF +OMIM:616075 skos:exactMatch UMLS:C1425308 Unspecified DEFB121 +OMIM:616075 skos:exactMatch HGNC_symbol:DEFB121 Unspecified DEFB121 +OMIM:616075 skos:exactMatch HGNC:18101 Unspecified DEFB121 +OMIM:616076 skos:exactMatch HGNC:18103 Unspecified DEFB123 +OMIM:616076 skos:exactMatch UMLS:C1425310 Unspecified DEFB123 +OMIM:616076 skos:exactMatch HGNC_symbol:DEFB123 Unspecified DEFB123 +OMIM:616077 skos:exactMatch HGNC:18102 Unspecified DEFB122 +OMIM:616077 skos:exactMatch UMLS:C1425309 Unspecified DEFB122 +OMIM:616077 skos:exactMatch HGNC_symbol:DEFB122 Unspecified DEFB122 +OMIM:616078 skos:exactMatch UMLS:C4015141 Unspecified intellectual developmental disorder, autosomal dominant 29 +OMIM:616079 skos:exactMatch UMLS:C4015146 Unspecified retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities +OMIM:604091 skos:exactMatch UMLS:C1704429 Unspecified hypoalphalipoproteinemia, primary, 1 +OMIM:604091 skos:exactMatch UMLS:C2931838 Unspecified hypoalphalipoproteinemia, primary, 1 +OMIM:604091 skos:exactMatch UMLS:C5193015 Unspecified hypoalphalipoproteinemia, primary, 1 +OMIM:604090 skos:exactMatch UMLS:C1414066 Unspecified DLG5 +OMIM:604090 skos:exactMatch HGNC:2904 Unspecified DLG5 +OMIM:604090 skos:exactMatch HGNC_symbol:DLG5 Unspecified DLG5 +OMIM:604093 skos:exactMatch UMLS:C0263428 Unspecified keratosis pilaris atrophicans +OMIM:604092 skos:exactMatch UMLS:C1336688 Unspecified TTK +OMIM:604092 skos:exactMatch HGNC_symbol:TTK Unspecified TTK +OMIM:604092 skos:exactMatch HGNC:12401 Unspecified TTK +OMIM:604095 skos:exactMatch UMLS:C1414061 Unspecified EDAR +OMIM:604095 skos:exactMatch HGNC:2895 Unspecified EDAR +OMIM:604095 skos:exactMatch HGNC_symbol:EDAR Unspecified EDAR +OMIM:604094 skos:exactMatch UMLS:C1416960 Unspecified MAD2L2 +OMIM:604094 skos:exactMatch HGNC_symbol:MAD2L2 Unspecified MAD2L2 +OMIM:604094 skos:exactMatch HGNC:6764 Unspecified MAD2L2 +OMIM:604097 skos:exactMatch HGNC_symbol:UTS2 Unspecified UTS2 +OMIM:604097 skos:exactMatch HGNC:12636 Unspecified UTS2 +OMIM:604097 skos:exactMatch UMLS:C1421413 Unspecified UTS2 +OMIM:604096 skos:exactMatch HGNC_symbol:GRM6 Unspecified GRM6 +OMIM:604096 skos:exactMatch UMLS:C1333713 Unspecified GRM6 +OMIM:604096 skos:exactMatch HGNC:4598 Unspecified GRM6 +OMIM:604099 skos:exactMatch HGNC:4594 Unspecified GRM2 +OMIM:604099 skos:exactMatch UMLS:C1415306 Unspecified GRM2 +OMIM:604099 skos:exactMatch HGNC_symbol:GRM2 Unspecified GRM2 +OMIM:604098 skos:exactMatch HGNC_symbol:SUGT1 Unspecified SUGT1 +OMIM:604098 skos:exactMatch HGNC:16987 Unspecified SUGT1 +OMIM:604098 skos:exactMatch UMLS:C1424675 Unspecified SUGT1 +OMIM:616060 skos:exactMatch UMLS:C1292294 Unspecified blood group, dombrock system +OMIM:616061 skos:exactMatch HGNC:14010 Unspecified MGA +OMIM:616061 skos:exactMatch HGNC_symbol:MGA Unspecified MGA +OMIM:616061 skos:exactMatch UMLS:C1422345 Unspecified MGA +OMIM:616062 skos:exactMatch HGNC:29101 Unspecified ANKLE2 +OMIM:616062 skos:exactMatch HGNC_symbol:ANKLE2 Unspecified ANKLE2 +OMIM:616062 skos:exactMatch UMLS:C2678596 Unspecified ANKLE2 +OMIM:616062 skos:exactMatch UMLS:C4225249 Unspecified ANKLE2 +OMIM:616063 skos:exactMatch UMLS:C4015128 Unspecified porokeratosis 8, disseminated superficial actinic iia +OMIM:616064 skos:exactMatch UMLS:C1823280 Unspecified TINAGL1 +OMIM:616064 skos:exactMatch HGNC:19168 Unspecified TINAGL1 +OMIM:616064 skos:exactMatch HGNC_symbol:TINAGL1 Unspecified TINAGL1 +OMIM:616065 skos:exactMatch UMLS:C1824374 Unspecified PIANP +OMIM:616065 skos:exactMatch HGNC:25338 Unspecified PIANP +OMIM:616065 skos:exactMatch HGNC_symbol:PIANP Unspecified PIANP +OMIM:616066 skos:exactMatch HGNC_symbol:SOHLH2 Unspecified SOHLH2 +OMIM:616066 skos:exactMatch UMLS:C1823078 Unspecified SOHLH2 +OMIM:616066 skos:exactMatch HGNC:26026 Unspecified SOHLH2 +OMIM:616067 skos:exactMatch UMLS:C4015129 Unspecified 46,xy sex reversal 9 +OMIM:616068 skos:exactMatch UMLS:C3470476 Unspecified HOXAAS2 +OMIM:616068 skos:exactMatch HGNC_symbol:HOXA-AS2 Unspecified HOXAAS2 +OMIM:616068 skos:exactMatch HGNC:43745 Unspecified HOXAAS2 +OMIM:616069 skos:exactMatch UMLS:C4015130 Unspecified inflammatory skin and bowel disease, neonatal, 2 +OMIM:616069 skos:exactMatch ORPHA:294023 Unspecified inflammatory skin and bowel disease, neonatal, 2 +OMIM:604080 skos:exactMatch HGNC:12922 Unspecified ZNF138 +OMIM:604080 skos:exactMatch UMLS:C1421630 Unspecified ZNF138 +OMIM:604080 skos:exactMatch HGNC_symbol:ZNF138 Unspecified ZNF138 +OMIM:604082 skos:exactMatch UMLS:C1421632 Unspecified ZNF140 +OMIM:604082 skos:exactMatch HGNC_symbol:ZNF140 Unspecified ZNF140 +OMIM:604082 skos:exactMatch HGNC:12925 Unspecified ZNF140 +OMIM:604084 skos:exactMatch UMLS:C1421641 Unspecified ZBTB17 +OMIM:604084 skos:exactMatch HGNC_symbol:ZBTB17 Unspecified ZBTB17 +OMIM:604084 skos:exactMatch HGNC:12936 Unspecified ZBTB17 +OMIM:604083 skos:exactMatch UMLS:C1421634 Unspecified ZNF142 +OMIM:604083 skos:exactMatch HGNC_symbol:ZNF142 Unspecified ZNF142 +OMIM:604083 skos:exactMatch HGNC:12927 Unspecified ZNF142 +OMIM:604086 skos:exactMatch HGNC_symbol:ZNF155 Unspecified ZNF155 +OMIM:604086 skos:exactMatch UMLS:C1421643 Unspecified ZNF155 +OMIM:604086 skos:exactMatch HGNC:12940 Unspecified ZNF155 +OMIM:604085 skos:exactMatch UMLS:C1421642 Unspecified ZNF154 +OMIM:604085 skos:exactMatch HGNC_symbol:ZNF154 Unspecified ZNF154 +OMIM:604085 skos:exactMatch HGNC:12939 Unspecified ZNF154 +OMIM:604088 skos:exactMatch HGNC_symbol:PPP1R17 Unspecified PP1R17 +OMIM:604088 skos:exactMatch HGNC:16973 Unspecified PP1R17 +OMIM:604088 skos:exactMatch UMLS:C1424668 Unspecified PP1R17 +OMIM:604087 skos:exactMatch HGNC:2641 Unspecified CYP46A1 +OMIM:604087 skos:exactMatch HGNC_symbol:CYP46A1 Unspecified CYP46A1 +OMIM:604087 skos:exactMatch UMLS:C1413885 Unspecified CYP46A1 +OMIM:604089 skos:exactMatch HGNC:16977 Unspecified HCST +OMIM:604089 skos:exactMatch UMLS:C1424670 Unspecified HCST +OMIM:604089 skos:exactMatch HGNC_symbol:HCST Unspecified HCST +OMIM:616050 skos:exactMatch UMLS:C4015067 Unspecified autoinflammation with infantile enterocolitis +OMIM:616051 skos:exactMatch UMLS:C4015080 Unspecified microcephaly 13, primary, autosomal recessive +OMIM:616052 skos:exactMatch ORPHA:352479 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 +OMIM:616052 skos:exactMatch UMLS:C4015095 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7 +OMIM:616053 skos:exactMatch UMLS:C4518336 Unspecified spinocerebellar ataxia 40 +OMIM:616054 skos:exactMatch HGNC:18248 Unspecified ELP2 +OMIM:616054 skos:exactMatch HGNC_symbol:ELP2 Unspecified ELP2 +OMIM:616054 skos:exactMatch UMLS:C1425394 Unspecified ELP2 +OMIM:616055 skos:exactMatch UMLS:C4015108 Unspecified episodic ataxia, iia 8 +OMIM:131750 skos:exactMatch UMLS:C2675683 Unspecified epidermolysis bullosa dystrophica, autosomal dominant +OMIM:131750 skos:exactMatch UMLS:C0432322 Unspecified epidermolysis bullosa dystrophica, autosomal dominant +OMIM:131750 skos:exactMatch UMLS:C0079136 Unspecified epidermolysis bullosa dystrophica, autosomal dominant +OMIM:616056 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 26 +OMIM:616056 skos:exactMatch UMLS:C4015119 Unspecified developmental and epileptic encephalopathy 26 +OMIM:155700 skos:exactMatch UMLS:C1835043 Unspecified melanoma, malignant familial intraocular +OMIM:616057 skos:exactMatch HGNC_symbol:TUSC7 Unspecified TUSC7 +OMIM:616057 skos:exactMatch UMLS:C3814602 Unspecified TUSC7 +OMIM:616057 skos:exactMatch HGNC:27701 Unspecified TUSC7 +OMIM:616058 skos:exactMatch HGNC:50506 Unspecified TARID +OMIM:616058 skos:exactMatch HGNC_symbol:TARID Unspecified TARID +OMIM:616058 skos:exactMatch UMLS:C3889185 Unspecified TARID +OMIM:616059 skos:exactMatch UMLS:C4015124 Unspecified mirror movements 3 +OMIM:604071 skos:exactMatch HGNC_symbol:DGKH Unspecified DGKH +OMIM:604071 skos:exactMatch UMLS:C1414034 Unspecified DGKH +OMIM:604071 skos:exactMatch HGNC:2854 Unspecified DGKH +OMIM:604070 skos:exactMatch HGNC_symbol:DGKB Unspecified DGKB +OMIM:604070 skos:exactMatch UMLS:C1414030 Unspecified DGKB +OMIM:604070 skos:exactMatch HGNC:2850 Unspecified DGKB +OMIM:604073 skos:exactMatch HGNC:12915 Unspecified ZNF131 +OMIM:604073 skos:exactMatch UMLS:C1421623 Unspecified ZNF131 +OMIM:604073 skos:exactMatch HGNC_symbol:ZNF131 Unspecified ZNF131 +OMIM:604072 skos:exactMatch HGNC:2855 Unspecified DGKI +OMIM:604072 skos:exactMatch HGNC_symbol:DGKI Unspecified DGKI +OMIM:604072 skos:exactMatch UMLS:C1414035 Unspecified DGKI +OMIM:604075 skos:exactMatch HGNC:12917 Unspecified ZNF133 +OMIM:604075 skos:exactMatch UMLS:C1421625 Unspecified ZNF133 +OMIM:604075 skos:exactMatch HGNC_symbol:ZNF133 Unspecified ZNF133 +OMIM:604074 skos:exactMatch HGNC:12916 Unspecified ZNF132 +OMIM:604074 skos:exactMatch HGNC_symbol:ZNF132 Unspecified ZNF132 +OMIM:604074 skos:exactMatch UMLS:C1421624 Unspecified ZNF132 +OMIM:604077 skos:exactMatch HGNC:12919 Unspecified ZNF135 +OMIM:604077 skos:exactMatch UMLS:C1421627 Unspecified ZNF135 +OMIM:604077 skos:exactMatch HGNC_symbol:ZNF135 Unspecified ZNF135 +OMIM:604076 skos:exactMatch HGNC:12918 Unspecified ZNF134 +OMIM:604076 skos:exactMatch HGNC_symbol:ZNF134 Unspecified ZNF134 +OMIM:604076 skos:exactMatch UMLS:C1421626 Unspecified ZNF134 +OMIM:604079 skos:exactMatch HGNC:12921 Unspecified ZNF137 +OMIM:604079 skos:exactMatch UMLS:C1421629 Unspecified ZNF137 +OMIM:604079 skos:exactMatch HGNC_symbol:ZNF137P Unspecified ZNF137 +OMIM:604078 skos:exactMatch HGNC:12920 Unspecified ZNF136 +OMIM:604078 skos:exactMatch HGNC_symbol:ZNF136 Unspecified ZNF136 +OMIM:604078 skos:exactMatch UMLS:C1421628 Unspecified ZNF136 +OMIM:131760 skos:exactMatch UMLS:C0079295 Unspecified epidermolysis bullosa simplex 1a, generalized severe +OMIM:155730 skos:exactMatch HGNC_symbol:CXCL1 Unspecified CXCL1 +OMIM:155730 skos:exactMatch UMLS:C0812445 Unspecified CXCL1 +OMIM:155730 skos:exactMatch HGNC:4602 Unspecified CXCL1 +OMIM:155735 skos:exactMatch HGNC_symbol:MCAM Unspecified MCAM +OMIM:155735 skos:exactMatch UMLS:C1334487 Unspecified MCAM +OMIM:155735 skos:exactMatch HGNC:6934 Unspecified MCAM +OMIM:214500 skos:exactMatch UMLS:C0007965 Unspecified chediak-higashi syndrome +OMIM:167700 skos:exactMatch UMLS:C0751470 Unspecified palmomental reflex +OMIM:155720 skos:exactMatch UMLS:C0220633 Unspecified melanoma, uveal +OMIM:180700 skos:exactMatch UMLS:C4551475 Unspecified robinow syndrome, autosomal dominant 1 +OMIM:155750 skos:exactMatch HGNC:7037 Unspecified MELTF +OMIM:155750 skos:exactMatch HGNC_symbol:MELTF Unspecified MELTF +OMIM:155750 skos:exactMatch UMLS:C1417130 Unspecified MELTF +OMIM:167730 skos:exactMatch UMLS:C1868660 Unspecified nasopalpebral lipoma-coloboma syndrome +OMIM:155755 skos:exactMatch UMLS:C1835042 Unspecified melanoma-astrocytoma syndrome +OMIM:179710 skos:exactMatch HGNC:1913 Unspecified RCC1 +OMIM:179710 skos:exactMatch HGNC_symbol:RCC1 Unspecified RCC1 +OMIM:179710 skos:exactMatch UMLS:C1826786 Unspecified RCC1 +OMIM:616090 skos:exactMatch UMLS:C1826253 Unspecified MIR802 +OMIM:616090 skos:exactMatch HGNC:33140 Unspecified MIR802 +OMIM:616090 skos:exactMatch HGNC_symbol:MIR802 Unspecified MIR802 +OMIM:616091 skos:exactMatch HGNC_symbol:METTL17 Unspecified METTL17 +OMIM:616091 skos:exactMatch HGNC:19280 Unspecified METTL17 +OMIM:616091 skos:exactMatch UMLS:C1825972 Unspecified METTL17 +OMIM:616092 skos:exactMatch HGNC:43713 Unspecified FALEC +OMIM:616092 skos:exactMatch UMLS:C3470867 Unspecified FALEC +OMIM:616092 skos:exactMatch HGNC_symbol:FALEC Unspecified FALEC +OMIM:616093 skos:exactMatch UMLS:C0000778 Unspecified blood group, abo system +OMIM:616094 skos:exactMatch UMLS:C4015184 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 12 +OMIM:616095 skos:exactMatch UMLS:C4015186 Unspecified monocarboxylate transporter 1 deficiency +OMIM:155740 skos:exactMatch HGNC_symbol:CD63 Unspecified CD63 +OMIM:155740 skos:exactMatch HGNC:1692 Unspecified CD63 +OMIM:155740 skos:exactMatch UMLS:C1413233 Unspecified CD63 +OMIM:616096 skos:exactMatch HGNC_symbol:MHRT Unspecified MHRT +OMIM:616096 skos:exactMatch UMLS:C3891006 Unspecified MHRT +OMIM:616096 skos:exactMatch HGNC:51291 Unspecified MHRT +OMIM:616097 skos:exactMatch HGNC_symbol:UQCC3 Unspecified UQCC3 +OMIM:616097 skos:exactMatch UMLS:C2681263 Unspecified UQCC3 +OMIM:616097 skos:exactMatch HGNC:34399 Unspecified UQCC3 +OMIM:616098 skos:exactMatch UMLS:C4015195 Unspecified immunodeficiency 37 +OMIM:616099 skos:exactMatch UMLS:C4015202 Unspecified palmoplantar keratoderma and woolly hair +OMIM:202550 skos:exactMatch UMLS:C0345240 Unspecified aganglionosis, total intestinal +OMIM:226500 skos:exactMatch UMLS:C0268368 Unspecified epidermolysis bullosa dystrophica neurotrophica +OMIM:179700 skos:exactMatch UMLS:C1867339 Unspecified red cell phospholipid defect with hemolysis +OMIM:104180 skos:exactMatch UMLS:C1414966 Unspecified GANC +OMIM:104180 skos:exactMatch HGNC_symbol:GANC Unspecified GANC +OMIM:104180 skos:exactMatch HGNC:4139 Unspecified GANC +OMIM:179617 skos:exactMatch HGNC_symbol:RAD51 Unspecified RAD51 +OMIM:179617 skos:exactMatch HGNC:9817 Unspecified RAD51 +OMIM:179617 skos:exactMatch UMLS:C0346153 Unspecified RAD51 +OMIM:179617 skos:exactMatch UMLS:C1419240 Unspecified RAD51 +OMIM:179617 skos:exactMatch UMLS:C4016360 Unspecified RAD51 +OMIM:179617 skos:exactMatch UMLS:C4284093 Unspecified RAD51 +OMIM:179617 skos:exactMatch UMLS:C3281089 Unspecified RAD51 +OMIM:179618 skos:exactMatch HGNC:9937 Unspecified RCVRN +OMIM:179618 skos:exactMatch HGNC_symbol:RCVRN Unspecified RCVRN +OMIM:179618 skos:exactMatch UMLS:C1419326 Unspecified RCVRN +OMIM:179615 skos:exactMatch HGNC_symbol:RAG1 Unspecified RAG1 +OMIM:179615 skos:exactMatch HGNC:9831 Unspecified RAG1 +OMIM:179615 skos:exactMatch UMLS:C0085218 Unspecified RAG1 +OMIM:179616 skos:exactMatch HGNC_symbol:RAG2 Unspecified RAG2 +OMIM:179616 skos:exactMatch HGNC:9832 Unspecified RAG2 +OMIM:179616 skos:exactMatch UMLS:C1419248 Unspecified RAG2 +OMIM:179613 skos:exactMatch UMLS:C0795822 Unspecified recombinant chromosome 8 syndrome +OMIM:179613 skos:exactMatch ORPHA:96167 Unspecified recombinant chromosome 8 syndrome +OMIM:179611 skos:exactMatch HGNC_symbol:EPHA3 Unspecified EPHA3 +OMIM:179611 skos:exactMatch UMLS:C0812263 Unspecified EPHA3 +OMIM:179611 skos:exactMatch HGNC:3387 Unspecified EPHA3 +OMIM:141000 skos:exactMatch UMLS:C0221025 Unspecified hemangioma-thrombocytopenia syndrome +OMIM:180610 skos:exactMatch HGNC:10025 Unspecified RLF +OMIM:180610 skos:exactMatch HGNC_symbol:RLF Unspecified RLF +OMIM:180610 skos:exactMatch UMLS:C1419392 Unspecified RLF +OMIM:179610 skos:exactMatch HGNC_symbol:EPHA1 Unspecified EPHA1 +OMIM:179610 skos:exactMatch HGNC:3385 Unspecified EPHA1 +OMIM:179610 skos:exactMatch UMLS:C0812262 Unspecified EPHA1 +OMIM:192605 skos:exactMatch UMLS:C0340485 Unspecified ventricular tachycardia, familial +OMIM:192600 skos:exactMatch UMLS:C0205700 Unspecified cardiomyopathy, familial hypertrophic, 1 +OMIM:192600 skos:exactMatch UMLS:C3495498 Unspecified cardiomyopathy, familial hypertrophic, 1 +OMIM:179605 skos:exactMatch UMLS:C2751290 Unspecified PRPH2 +OMIM:179605 skos:exactMatch UMLS:C1842914 Unspecified PRPH2 +OMIM:179605 skos:exactMatch HGNC:9942 Unspecified PRPH2 +OMIM:179605 skos:exactMatch UMLS:C4551999 Unspecified PRPH2 +OMIM:179605 skos:exactMatch UMLS:C4016358 Unspecified PRPH2 +OMIM:179605 skos:exactMatch UMLS:C2675552 Unspecified PRPH2 +OMIM:179605 skos:exactMatch UMLS:C4013102 Unspecified PRPH2 +OMIM:179605 skos:exactMatch HGNC_symbol:PRPH2 Unspecified PRPH2 +OMIM:179605 skos:exactMatch UMLS:C1842475 Unspecified PRPH2 +OMIM:179605 skos:exactMatch UMLS:C1826711 Unspecified PRPH2 +OMIM:179600 skos:exactMatch UMLS:C0034734 Unspecified raynaud disease +OMIM:180620 skos:exactMatch UMLS:C1421159 Unspecified TRX-CAT2-1 +OMIM:180620 skos:exactMatch HGNC_symbol:TRX-CAT2-1 Unspecified TRX-CAT2-1 +OMIM:180620 skos:exactMatch HGNC:12322 Unspecified TRX-CAT2-1 +OMIM:180621 skos:exactMatch UMLS:C1421157 Unspecified TRX-CAT1-2 +OMIM:180621 skos:exactMatch HGNC_symbol:TRX-CAT1-2 Unspecified TRX-CAT1-2 +OMIM:180621 skos:exactMatch HGNC:12318 Unspecified TRX-CAT1-2 +OMIM:104160 skos:exactMatch HGNC_symbol:GANAB Unspecified GANAB +OMIM:104160 skos:exactMatch UMLS:C1414965 Unspecified GANAB +OMIM:104160 skos:exactMatch HGNC:4138 Unspecified GANAB +OMIM:104155 skos:exactMatch UMLS:C4015779 Unspecified ZFHX3 +OMIM:104155 skos:exactMatch HGNC:777 Unspecified ZFHX3 +OMIM:104155 skos:exactMatch HGNC_symbol:ZFHX3 Unspecified ZFHX3 +OMIM:104155 skos:exactMatch UMLS:C1412611 Unspecified ZFHX3 +OMIM:104170 skos:exactMatch HGNC:7631 Unspecified NAGA +OMIM:104170 skos:exactMatch HGNC_symbol:NAGA Unspecified NAGA +OMIM:104170 skos:exactMatch UMLS:C1417592 Unspecified NAGA +OMIM:104175 skos:exactMatch UMLS:C1415056 Unspecified GGTA1P +OMIM:104175 skos:exactMatch HGNC_symbol:GGTA1 Unspecified GGTA1P +OMIM:104175 skos:exactMatch HGNC:4253 Unspecified GGTA1P +OMIM:179620 skos:exactMatch UMLS:C1867341 Unspecified raph blood group system +OMIM:180600 skos:exactMatch UMLS:C0263489 Unspecified ringed hair +OMIM:128101 skos:exactMatch UMLS:C1851943 Unspecified dystonia 4, torsion, autosomal dominant +OMIM:179650 skos:exactMatch UMLS:C1867340 Unspecified red cell permeability defect +OMIM:180660 skos:exactMatch HGNC_symbol:POLR2A Unspecified POLR2A +OMIM:180660 skos:exactMatch UMLS:C5231423 Unspecified POLR2A +OMIM:180660 skos:exactMatch HGNC:9187 Unspecified POLR2A +OMIM:180660 skos:exactMatch UMLS:C1335231 Unspecified POLR2A +OMIM:104150 skos:exactMatch HGNC_symbol:AFP Unspecified AFP +OMIM:104150 skos:exactMatch HGNC:317 Unspecified AFP +OMIM:104150 skos:exactMatch UMLS:C1367597 Unspecified AFP +OMIM:180661 skos:exactMatch HGNC_symbol:POLR2B Unspecified POLR2B +OMIM:180661 skos:exactMatch UMLS:C1418739 Unspecified POLR2B +OMIM:180661 skos:exactMatch HGNC:9188 Unspecified POLR2B +OMIM:180662 skos:exactMatch HGNC_symbol:POLR2I Unspecified POLR2I +OMIM:180662 skos:exactMatch UMLS:C1418747 Unspecified POLR2I +OMIM:180662 skos:exactMatch HGNC:9196 Unspecified POLR2I +OMIM:180663 skos:exactMatch HGNC_symbol:POLR2C Unspecified POLR2C +OMIM:180663 skos:exactMatch UMLS:C1418740 Unspecified POLR2C +OMIM:180663 skos:exactMatch HGNC:9189 Unspecified POLR2C +OMIM:128100 skos:exactMatch UMLS:C3888090 Unspecified dystonia 1, torsion, autosomal dominant +OMIM:128100 skos:exactMatch UMLS:C1851945 Unspecified dystonia 1, torsion, autosomal dominant +OMIM:165000 skos:exactMatch UMLS:C1833839 Unspecified ophthalmoplegia, familial static +OMIM:180664 skos:exactMatch HGNC_symbol:POLR2E Unspecified POLR2E +OMIM:180664 skos:exactMatch UMLS:C1418743 Unspecified POLR2E +OMIM:180664 skos:exactMatch HGNC:9192 Unspecified POLR2E +OMIM:104145 skos:exactMatch HGNC:316 Unspecified AFM +OMIM:104145 skos:exactMatch HGNC_symbol:AFM Unspecified AFM +OMIM:104145 skos:exactMatch UMLS:C1412275 Unspecified AFM +OMIM:180630 skos:exactMatch HGNC_symbol:DDX5 Unspecified DDX5 +OMIM:180630 skos:exactMatch HGNC:2746 Unspecified DDX5 +OMIM:180630 skos:exactMatch UMLS:C1413963 Unspecified DDX5 +OMIM:116100 skos:exactMatch UMLS:C3805410 Unspecified cataract 20, multiple types +OMIM:177015 skos:exactMatch HGNC:9529 Unspecified PSKH1 +OMIM:177015 skos:exactMatch UMLS:C1419002 Unspecified PSKH1 +OMIM:177015 skos:exactMatch HGNC_symbol:PSKH1 Unspecified PSKH1 +OMIM:104110 skos:exactMatch UMLS:C1863092 Unspecified alopecia, familial focal +OMIM:177010 skos:exactMatch HGNC_symbol:SERPINE2 Unspecified SERPINE2 +OMIM:177010 skos:exactMatch HGNC:8951 Unspecified SERPINE2 +OMIM:177010 skos:exactMatch UMLS:C1418552 Unspecified SERPINE2 +OMIM:180640 skos:exactMatch HGNC_symbol:TRE-TTC3-1 Unspecified TRE-TTC3-1 +OMIM:180640 skos:exactMatch HGNC:12265 Unspecified TRE-TTC3-1 +OMIM:180640 skos:exactMatch UMLS:C1421113 Unspecified TRE-TTC3-1 +OMIM:104130 skos:exactMatch UMLS:C1863090 Unspecified alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality +OMIM:165020 skos:exactMatch HGNC:10261 Unspecified ROS1 +OMIM:165020 skos:exactMatch UMLS:C0812281 Unspecified ROS1 +OMIM:165020 skos:exactMatch UMLS:C1847375 Unspecified ROS1 +OMIM:165020 skos:exactMatch HGNC_symbol:ROS1 Unspecified ROS1 +OMIM:177000 skos:exactMatch UMLS:C0162568 Unspecified protoporphyria, erythropoietic, 1 +OMIM:177000 skos:exactMatch UMLS:C4692546 Unspecified protoporphyria, erythropoietic, 1 +OMIM:180645 skos:exactMatch HGNC_symbol:SNORA73A Unspecified SNORA73A +OMIM:180645 skos:exactMatch UMLS:C1419462 Unspecified SNORA73A +OMIM:180645 skos:exactMatch HGNC:10115 Unspecified SNORA73A +OMIM:180646 skos:exactMatch UMLS:C1419454 Unspecified SNORA62 +OMIM:180646 skos:exactMatch HGNC_symbol:SNORA62 Unspecified SNORA62 +OMIM:180646 skos:exactMatch HGNC:10107 Unspecified SNORA62 +OMIM:180647 skos:exactMatch UMLS:C1419453 Unspecified SNORA63 +OMIM:180647 skos:exactMatch HGNC_symbol:SNORA63 Unspecified SNORA63 +OMIM:180647 skos:exactMatch HGNC:10106 Unspecified SNORA63 +OMIM:180690 skos:exactMatch UMLS:C1419489 Unspecified RNU2-1 +OMIM:180690 skos:exactMatch HGNC:10142 Unspecified RNU2-1 +OMIM:180690 skos:exactMatch HGNC_symbol:RNU2-1 Unspecified RNU2-1 +OMIM:180691 skos:exactMatch UMLS:C1419558 Unspecified RNU5A +OMIM:180691 skos:exactMatch HGNC:10211 Unspecified RNU5A +OMIM:180691 skos:exactMatch HGNC_symbol:RNU5A-1 Unspecified RNU5A +OMIM:180692 skos:exactMatch UMLS:C1419574 Unspecified RNU6-1 +OMIM:180692 skos:exactMatch HGNC:10227 Unspecified RNU6-1 +OMIM:180692 skos:exactMatch HGNC_symbol:RNU6-1 Unspecified RNU6-1 +OMIM:310470 skos:exactMatch UMLS:C1839602 Unspecified neuropathy, hereditary sensory, X-linked +OMIM:165060 skos:exactMatch HGNC:12348 Unspecified TRU-TCA1-1 +OMIM:165060 skos:exactMatch HGNC_symbol:TRU-TCA1-1 Unspecified TRU-TCA1-1 +OMIM:165060 skos:exactMatch UMLS:C1421182 Unspecified TRU-TCA1-1 +OMIM:118750 skos:exactMatch UMLS:C1861569 Unspecified choreoathetosis, familial inverted +OMIM:106750 skos:exactMatch UMLS:C1862844 Unspecified anonychia with flexural pigmentation +OMIM:190010 skos:exactMatch HGNC:11763 Unspecified TFRC +OMIM:190010 skos:exactMatch UMLS:C1420708 Unspecified TFRC +OMIM:190010 skos:exactMatch HGNC_symbol:TFRC Unspecified TFRC +OMIM:606600 skos:exactMatch UMLS:C1419281 Unspecified RASGRF1 +OMIM:606600 skos:exactMatch HGNC_symbol:RASGRF1 Unspecified RASGRF1 +OMIM:606600 skos:exactMatch HGNC:9875 Unspecified RASGRF1 +OMIM:165040 skos:exactMatch HGNC_symbol:RAB8A Unspecified RAB8A +OMIM:165040 skos:exactMatch HGNC:7007 Unspecified RAB8A +OMIM:165040 skos:exactMatch UMLS:C1417108 Unspecified RAB8A +OMIM:310490 skos:exactMatch UMLS:C0795910 Unspecified charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia +OMIM:310490 skos:exactMatch ORPHA:101078 Unspecified charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia +OMIM:104100 skos:exactMatch ORPHA:1010 Unspecified palmoplantar keratoderma and congenital alopecia 1 +OMIM:104100 skos:exactMatch UMLS:C3151468 Unspecified palmoplantar keratoderma and congenital alopecia 1 +OMIM:190020 skos:exactMatch UMLS:C4017653 Unspecified HRAS +OMIM:190020 skos:exactMatch HGNC:5173 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C4016398 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C4479707 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C0079471 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C4225656 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C4225657 Unspecified HRAS +OMIM:190020 skos:exactMatch HGNC_symbol:HRAS Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C2674644 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C3277679 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C3837430 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C1851162 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C0587248 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C1968782 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C3550163 Unspecified HRAS +OMIM:190020 skos:exactMatch UMLS:C3550165 Unspecified HRAS +OMIM:177020 skos:exactMatch HGNC_symbol:PRTN3 Unspecified PRTN3 +OMIM:177020 skos:exactMatch HGNC:9495 Unspecified PRTN3 +OMIM:177020 skos:exactMatch UMLS:C1335267 Unspecified PRTN3 +OMIM:177061 skos:exactMatch HGNC:6759 Unspecified MARCKS +OMIM:177061 skos:exactMatch HGNC_symbol:MARCKS Unspecified MARCKS +OMIM:177061 skos:exactMatch UMLS:C1416956 Unspecified MARCKS +OMIM:177060 skos:exactMatch UMLS:C1418927 Unspecified PRKCSH +OMIM:177060 skos:exactMatch HGNC_symbol:PRKCSH Unspecified PRKCSH +OMIM:177060 skos:exactMatch HGNC:9411 Unspecified PRKCSH +OMIM:180670 skos:exactMatch UMLS:C1867153 Unspecified None +OMIM:189000 skos:exactMatch UMLS:C1861062 Unspecified toe, fifth, number of phalanges 1n +OMIM:165080 skos:exactMatch UMLS:C3887934 Unspecified ERG +OMIM:165080 skos:exactMatch HGNC:3446 Unspecified ERG +OMIM:165080 skos:exactMatch HGNC_symbol:ERG Unspecified ERG +OMIM:165080 skos:exactMatch UMLS:C1336641 Unspecified ERG +OMIM:165080 skos:exactMatch UMLS:C0599295 Unspecified ERG +OMIM:165080 skos:exactMatch UMLS:C1851465 Unspecified ERG +OMIM:180680 skos:exactMatch UMLS:C1419475 Unspecified RNU1A +OMIM:180680 skos:exactMatch HGNC:10128 Unspecified RNU1A +OMIM:180680 skos:exactMatch HGNC_symbol:RNU1-4 Unspecified RNU1A +OMIM:177050 skos:exactMatch UMLS:C0409495 Unspecified protrusio acetabuli +OMIM:310468 skos:exactMatch UMLS:C0403720 Unspecified nephrolithiasis, X-linked recessive, with renal failure +OMIM:310465 skos:exactMatch UMLS:C2936859 Unspecified n syndrome +OMIM:310460 skos:exactMatch UMLS:C1839612 Unspecified myopia 1, X-linked +OMIM:309480 skos:exactMatch UMLS:C3275610 Unspecified mental retardation and psoriasis +OMIM:165070 skos:exactMatch UMLS:C0812298 Unspecified FLT1 +OMIM:165070 skos:exactMatch HGNC:3763 Unspecified FLT1 +OMIM:165070 skos:exactMatch HGNC_symbol:FLT1 Unspecified FLT1 +OMIM:177045 skos:exactMatch HGNC:9546 Unspecified PSMB9 +OMIM:177045 skos:exactMatch UMLS:C1419019 Unspecified PSMB9 +OMIM:177045 skos:exactMatch HGNC_symbol:PSMB9 Unspecified PSMB9 +OMIM:177046 skos:exactMatch HGNC:9545 Unspecified PSMB8 +OMIM:177046 skos:exactMatch UMLS:C1419018 Unspecified PSMB8 +OMIM:177046 skos:exactMatch HGNC_symbol:PSMB8 Unspecified PSMB8 +OMIM:190000 skos:exactMatch UMLS:C1442762 Unspecified TF +OMIM:190000 skos:exactMatch HGNC:11740 Unspecified TF +OMIM:190000 skos:exactMatch HGNC_symbol:TF Unspecified TF +OMIM:177040 skos:exactMatch HGNC_symbol:SRGN Unspecified SRGN +OMIM:177040 skos:exactMatch UMLS:C1418888 Unspecified SRGN +OMIM:177040 skos:exactMatch HGNC:9361 Unspecified SRGN +OMIM:606636 skos:exactMatch UMLS:C4479278 Unspecified NLRP1 +OMIM:606636 skos:exactMatch UMLS:C1826435 Unspecified NLRP1 +OMIM:606636 skos:exactMatch HGNC_symbol:NLRP1 Unspecified NLRP1 +OMIM:606636 skos:exactMatch UMLS:C3808876 Unspecified NLRP1 +OMIM:606636 skos:exactMatch HGNC:14374 Unspecified NLRP1 +OMIM:606636 skos:exactMatch UMLS:C5394112 Unspecified NLRP1 +OMIM:606636 skos:exactMatch UMLS:C1847835 Unspecified NLRP1 +OMIM:606637 skos:exactMatch HGNC_symbol:PYY2 Unspecified PYY2 +OMIM:606637 skos:exactMatch HGNC:9749 Unspecified PYY2 +OMIM:606637 skos:exactMatch UMLS:C1419179 Unspecified PYY2 +OMIM:606634 skos:exactMatch UMLS:C1422826 Unspecified DCD +OMIM:606634 skos:exactMatch HGNC_symbol:DCD Unspecified DCD +OMIM:606634 skos:exactMatch HGNC:14669 Unspecified DCD +OMIM:606635 skos:exactMatch UMLS:C1418973 Unspecified TMPRSS15 +OMIM:606635 skos:exactMatch HGNC:9490 Unspecified TMPRSS15 +OMIM:606635 skos:exactMatch HGNC_symbol:TMPRSS15 Unspecified TMPRSS15 +OMIM:606638 skos:exactMatch UMLS:C1418857 Unspecified PPY2 +OMIM:606638 skos:exactMatch HGNC:9328 Unspecified PPY2 +OMIM:606638 skos:exactMatch HGNC_symbol:PPY2P Unspecified PPY2 +OMIM:606639 skos:exactMatch HGNC:13780 Unspecified GFM1 +OMIM:606639 skos:exactMatch UMLS:C1539560 Unspecified GFM1 +OMIM:606639 skos:exactMatch HGNC_symbol:GFM1 Unspecified GFM1 +OMIM:165098 skos:exactMatch UMLS:C1833836 Unspecified ophthalmoplegia, familial total, with iris transillumination +OMIM:618621 skos:exactMatch HGNC:18469 Unspecified ZDHHC2 +OMIM:618621 skos:exactMatch HGNC_symbol:ZDHHC2 Unspecified ZDHHC2 +OMIM:118700 skos:exactMatch ORPHA:1429 Unspecified chorea, benign hereditary +OMIM:118700 skos:exactMatch UMLS:C0393584 Unspecified chorea, benign hereditary +OMIM:618623 skos:exactMatch HGNC_symbol:HIGD1A Unspecified HIGD1A +OMIM:618623 skos:exactMatch HGNC:29527 Unspecified HIGD1A +OMIM:165095 skos:exactMatch UMLS:C1335093 Unspecified OSM +OMIM:165095 skos:exactMatch HGNC:8506 Unspecified OSM +OMIM:165095 skos:exactMatch HGNC_symbol:OSM Unspecified OSM +OMIM:618614 skos:exactMatch HGNC_symbol:CBY2 Unspecified CBY2 +OMIM:618614 skos:exactMatch HGNC:30720 Unspecified CBY2 +OMIM:618616 skos:exactMatch HGNC:24667 Unspecified MAPK15 +OMIM:618616 skos:exactMatch HGNC_symbol:MAPK15 Unspecified MAPK15 +OMIM:618615 skos:exactMatch HGNC_symbol:HEIH Unspecified HEIH +OMIM:618615 skos:exactMatch HGNC:45049 Unspecified HEIH +OMIM:618617 skos:exactMatch HGNC:21688 Unspecified ZNHIT1 +OMIM:618617 skos:exactMatch HGNC_symbol:ZNHIT1 Unspecified ZNHIT1 +OMIM:606640 skos:exactMatch UMLS:C1847735 Unspecified amyotrophic lateral sclerosis 3 +OMIM:606643 skos:exactMatch UMLS:C1847733 Unspecified body mass index quantitative trait locus 2 +OMIM:606644 skos:exactMatch HGNC:17813 Unspecified IGSF8 +OMIM:606644 skos:exactMatch HGNC_symbol:IGSF8 Unspecified IGSF8 +OMIM:606644 skos:exactMatch UMLS:C1425097 Unspecified IGSF8 +OMIM:606641 skos:exactMatch UMLS:C3888010 Unspecified body mass index quantitative trait locus 1 +OMIM:606641 skos:exactMatch UMLS:C1305855 Unspecified body mass index quantitative trait locus 1 +OMIM:177075 skos:exactMatch UMLS:C0919481 Unspecified MAF +OMIM:177075 skos:exactMatch HGNC:6776 Unspecified MAF +OMIM:177075 skos:exactMatch HGNC_symbol:MAF Unspecified MAF +OMIM:177070 skos:exactMatch HGNC:3381 Unspecified EPB42 +OMIM:177070 skos:exactMatch UMLS:C1414426 Unspecified EPB42 +OMIM:177070 skos:exactMatch HGNC_symbol:EPB42 Unspecified EPB42 +OMIM:606625 skos:exactMatch HGNC_symbol:SLAMF7 Unspecified SLAMF7 +OMIM:606625 skos:exactMatch HGNC:21394 Unspecified SLAMF7 +OMIM:606625 skos:exactMatch UMLS:C1427539 Unspecified SLAMF7 +OMIM:606626 skos:exactMatch HGNC:18142 Unspecified DAAM1 +OMIM:606626 skos:exactMatch HGNC_symbol:DAAM1 Unspecified DAAM1 +OMIM:606626 skos:exactMatch UMLS:C1425340 Unspecified DAAM1 +OMIM:606623 skos:exactMatch HGNC:23316 Unspecified HSD17B6 +OMIM:606623 skos:exactMatch UMLS:C1537381 Unspecified HSD17B6 +OMIM:606623 skos:exactMatch HGNC_symbol:HSD17B6 Unspecified HSD17B6 +OMIM:606624 skos:exactMatch HGNC:13805 Unspecified NEUROG2 +OMIM:606624 skos:exactMatch UMLS:C1422204 Unspecified NEUROG2 +OMIM:606624 skos:exactMatch HGNC_symbol:NEUROG2 Unspecified NEUROG2 +OMIM:606629 skos:exactMatch UMLS:C1863634 Unspecified RIMS1 +OMIM:606629 skos:exactMatch HGNC_symbol:RIMS1 Unspecified RIMS1 +OMIM:606629 skos:exactMatch UMLS:C1424873 Unspecified RIMS1 +OMIM:606629 skos:exactMatch HGNC:17282 Unspecified RIMS1 +OMIM:606627 skos:exactMatch HGNC:18143 Unspecified DAAM2 +OMIM:606627 skos:exactMatch HGNC_symbol:DAAM2 Unspecified DAAM2 +OMIM:606627 skos:exactMatch UMLS:C1425341 Unspecified DAAM2 +OMIM:606628 skos:exactMatch HGNC:4415 Unspecified GNMT +OMIM:606628 skos:exactMatch HGNC_symbol:GNMT Unspecified GNMT +OMIM:606628 skos:exactMatch UMLS:C1415165 Unspecified GNMT +OMIM:618610 skos:exactMatch HGNC_symbol:HMBOX1 Unspecified HMBOX1 +OMIM:618610 skos:exactMatch HGNC:26137 Unspecified HMBOX1 +OMIM:618611 skos:exactMatch HGNC_symbol:HROB Unspecified HROB +OMIM:618611 skos:exactMatch HGNC:28460 Unspecified HROB +OMIM:618602 skos:exactMatch HGNC_symbol:ADAM32 Unspecified ADAM32 +OMIM:618602 skos:exactMatch HGNC:15479 Unspecified ADAM32 +OMIM:190060 skos:exactMatch HGNC:7199 Unspecified MOS +OMIM:190060 skos:exactMatch HGNC_symbol:MOS Unspecified MOS +OMIM:190060 skos:exactMatch UMLS:C0026574 Unspecified MOS +OMIM:165090 skos:exactMatch HGNC_symbol:RRAS Unspecified RRAS +OMIM:165090 skos:exactMatch UMLS:C1419756 Unspecified RRAS +OMIM:165090 skos:exactMatch HGNC:10447 Unspecified RRAS +OMIM:618605 skos:exactMatch HGNC_symbol:ANKRD9 Unspecified ANKRD9 +OMIM:618605 skos:exactMatch HGNC:20096 Unspecified ANKRD9 +OMIM:618607 skos:exactMatch HGNC:24785 Unspecified YJEFN3 +OMIM:618607 skos:exactMatch HGNC_symbol:YJEFN3 Unspecified YJEFN3 +OMIM:275450 skos:exactMatch UMLS:C3279457 Unspecified trichoodontoonychial dysplasia with bone deficiency +OMIM:618609 skos:exactMatch HGNC:24923 Unspecified HEMK1 +OMIM:618609 skos:exactMatch HGNC_symbol:HEMK1 Unspecified HEMK1 +OMIM:618608 skos:exactMatch UMLS:C5231426 Unspecified intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies +OMIM:606632 skos:exactMatch UMLS:C1847745 Unspecified odor, male, women's choice of +OMIM:606633 skos:exactMatch HGNC:17321 Unspecified SP7 +OMIM:606633 skos:exactMatch HGNC_symbol:SP7 Unspecified SP7 +OMIM:606633 skos:exactMatch UMLS:C1424900 Unspecified SP7 +OMIM:606630 skos:exactMatch UMLS:C5436505 Unspecified RIMS2 +OMIM:606630 skos:exactMatch HGNC:17283 Unspecified RIMS2 +OMIM:606630 skos:exactMatch HGNC_symbol:RIMS2 Unspecified RIMS2 +OMIM:606630 skos:exactMatch UMLS:C1424874 Unspecified RIMS2 +OMIM:606631 skos:exactMatch UMLS:C2931683 Unspecified camurati-engelmann disease, iia 2 +OMIM:606614 skos:exactMatch UMLS:C1419282 Unspecified RASGRF2 +OMIM:606614 skos:exactMatch HGNC_symbol:RASGRF2 Unspecified RASGRF2 +OMIM:606614 skos:exactMatch HGNC:9876 Unspecified RASGRF2 +OMIM:606615 skos:exactMatch HGNC_symbol:HIF1AN Unspecified HIF1AN +OMIM:606615 skos:exactMatch UMLS:C1424751 Unspecified HIF1AN +OMIM:606615 skos:exactMatch HGNC:17113 Unspecified HIF1AN +OMIM:606612 skos:exactMatch ORPHA:52428 Unspecified muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 +OMIM:606612 skos:exactMatch UMLS:C1847759 Unspecified muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 +OMIM:606612 skos:exactMatch ORPHA:370980 Unspecified muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 +OMIM:606612 skos:exactMatch ORPHA:370968 Unspecified muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 +OMIM:606612 skos:exactMatch ORPHA:370959 Unspecified muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 +OMIM:606613 skos:exactMatch UMLS:C1847758 Unspecified high density lipoprotein cholesterol level quantitative trait locus 1 +OMIM:606618 skos:exactMatch UMLS:C1424682 Unspecified DUSP14 +OMIM:606618 skos:exactMatch HGNC_symbol:DUSP14 Unspecified DUSP14 +OMIM:606618 skos:exactMatch HGNC:17007 Unspecified DUSP14 +OMIM:606619 skos:exactMatch UMLS:C1425986 Unspecified GBA3 +OMIM:606619 skos:exactMatch HGNC_symbol:GBA3 Unspecified GBA3 +OMIM:606619 skos:exactMatch HGNC:19069 Unspecified GBA3 +OMIM:606616 skos:exactMatch UMLS:C1847757 Unspecified dyslexia, susceptibility to, 6 +OMIM:618601 skos:exactMatch HGNC:26115 Unspecified EXO5 +OMIM:618601 skos:exactMatch HGNC_symbol:EXO5 Unspecified EXO5 +OMIM:618600 skos:exactMatch HGNC_symbol:CABS1 Unspecified CABS1 +OMIM:618600 skos:exactMatch HGNC:30710 Unspecified CABS1 +OMIM:190030 skos:exactMatch HGNC:3657 Unspecified FES +OMIM:190030 skos:exactMatch HGNC_symbol:FES Unspecified FES +OMIM:190030 skos:exactMatch UMLS:C1414588 Unspecified FES +OMIM:606621 skos:exactMatch UMLS:C1825568 Unspecified IFT57 +OMIM:606621 skos:exactMatch HGNC:17367 Unspecified IFT57 +OMIM:606621 skos:exactMatch HGNC_symbol:IFT57 Unspecified IFT57 +OMIM:606622 skos:exactMatch HGNC:11102 Unspecified SMARCAL1 +OMIM:606622 skos:exactMatch HGNC_symbol:SMARCAL1 Unspecified SMARCAL1 +OMIM:606622 skos:exactMatch UMLS:C1420250 Unspecified SMARCAL1 +OMIM:606620 skos:exactMatch HGNC_symbol:SLAMF8 Unspecified SLAMF8 +OMIM:606620 skos:exactMatch HGNC:21391 Unspecified SLAMF8 +OMIM:606620 skos:exactMatch UMLS:C1427536 Unspecified SLAMF8 +OMIM:606603 skos:exactMatch HGNC:14341 Unspecified EDARADD +OMIM:606603 skos:exactMatch HGNC_symbol:EDARADD Unspecified EDARADD +OMIM:606603 skos:exactMatch UMLS:C1422578 Unspecified EDARADD +OMIM:606604 skos:exactMatch UMLS:C1424509 Unspecified FBXO32 +OMIM:606604 skos:exactMatch HGNC_symbol:FBXO32 Unspecified FBXO32 +OMIM:606604 skos:exactMatch HGNC:16731 Unspecified FBXO32 +OMIM:606601 skos:exactMatch HGNC:14602 Unspecified ERVE1 +OMIM:606601 skos:exactMatch HGNC_symbol:ERVE-1 Unspecified ERVE1 +OMIM:606601 skos:exactMatch UMLS:C1422783 Unspecified ERVE1 +OMIM:606602 skos:exactMatch HGNC:14333 Unspecified BAALC +OMIM:606602 skos:exactMatch UMLS:C1422571 Unspecified BAALC +OMIM:606602 skos:exactMatch HGNC_symbol:BAALC Unspecified BAALC +OMIM:606607 skos:exactMatch HGNC:9536 Unspecified PSMA7 +OMIM:606607 skos:exactMatch UMLS:C1419009 Unspecified PSMA7 +OMIM:606607 skos:exactMatch HGNC_symbol:PSMA7 Unspecified PSMA7 +OMIM:606608 skos:exactMatch UMLS:C1424135 Unspecified YAP1 +OMIM:606608 skos:exactMatch HGNC_symbol:YAP1 Unspecified YAP1 +OMIM:606608 skos:exactMatch UMLS:C3805432 Unspecified YAP1 +OMIM:606608 skos:exactMatch UMLS:C0009363 Unspecified YAP1 +OMIM:606608 skos:exactMatch HGNC:16262 Unspecified YAP1 +OMIM:606605 skos:exactMatch UMLS:C2243119 Unspecified ATRIP +OMIM:606605 skos:exactMatch HGNC:33499 Unspecified ATRIP +OMIM:606605 skos:exactMatch HGNC_symbol:ATRIP Unspecified ATRIP +OMIM:263450 skos:exactMatch UMLS:C3550661 Unspecified polydactyly, postaxial, iia a5 +OMIM:606609 skos:exactMatch UMLS:C1336670 Unspecified TREX1 +OMIM:606609 skos:exactMatch UMLS:C0796126 Unspecified TREX1 +OMIM:606609 skos:exactMatch HGNC:12269 Unspecified TREX1 +OMIM:606609 skos:exactMatch UMLS:C3862275 Unspecified TREX1 +OMIM:606609 skos:exactMatch UMLS:C1860518 Unspecified TREX1 +OMIM:606609 skos:exactMatch UMLS:C0024145 Unspecified TREX1 +OMIM:606609 skos:exactMatch UMLS:C3150315 Unspecified TREX1 +OMIM:606609 skos:exactMatch HGNC_symbol:TREX1 Unspecified TREX1 +OMIM:606610 skos:exactMatch UMLS:C1423827 Unspecified NSFL1C +OMIM:606610 skos:exactMatch HGNC:15912 Unspecified NSFL1C +OMIM:606610 skos:exactMatch HGNC_symbol:NSFL1C Unspecified NSFL1C +OMIM:606611 skos:exactMatch UMLS:C1539241 Unspecified DEFB103A +OMIM:606611 skos:exactMatch HGNC_symbol:DEFB103B Unspecified DEFB103A +OMIM:606611 skos:exactMatch HGNC:31702 Unspecified DEFB103A +OMIM:106700 skos:exactMatch UMLS:C4551905 Unspecified total anomalous pulmonary venous return 1 +OMIM:106700 skos:exactMatch UMLS:C4551904 Unspecified total anomalous pulmonary venous return 1 +OMIM:190040 skos:exactMatch UMLS:C0751995 Unspecified PDGFB +OMIM:190040 skos:exactMatch HGNC_symbol:PDGFB Unspecified PDGFB +OMIM:190040 skos:exactMatch HGNC:8800 Unspecified PDGFB +OMIM:190040 skos:exactMatch UMLS:C1861000 Unspecified PDGFB +OMIM:604138 skos:exactMatch HGNC_symbol:GPRC5A Unspecified GPRC5A +OMIM:604138 skos:exactMatch HGNC:9836 Unspecified GPRC5A +OMIM:604138 skos:exactMatch UMLS:C1539598 Unspecified GPRC5A +OMIM:606799 skos:exactMatch UMLS:C1847482 Unspecified stroke, susceptibility to, 1 +OMIM:212090 skos:exactMatch UMLS:C1859331 Unspecified cardiac septal defects with coarctation of the aorta +OMIM:604139 skos:exactMatch UMLS:C1415753 Unspecified DNAJB2 +OMIM:604139 skos:exactMatch HGNC:5228 Unspecified DNAJB2 +OMIM:604139 skos:exactMatch HGNC_symbol:DNAJB2 Unspecified DNAJB2 +OMIM:300951 skos:exactMatch HGNC_symbol:RNF113A Unspecified RNF113A +OMIM:300951 skos:exactMatch HGNC:12974 Unspecified RNF113A +OMIM:300951 skos:exactMatch UMLS:C4225420 Unspecified RNF113A +OMIM:300951 skos:exactMatch UMLS:C1538859 Unspecified RNF113A +OMIM:618780 skos:exactMatch UMLS:C5394062 Unspecified congenital heart defects, multiple types, 7 +OMIM:618780 skos:exactMatch ORPHA:3303 Unspecified congenital heart defects, multiple types, 7 +OMIM:300950 skos:exactMatch HGNC_symbol:MIR20B Unspecified MIR20B +OMIM:300950 skos:exactMatch HGNC:32024 Unspecified MIR20B +OMIM:300950 skos:exactMatch UMLS:C1825999 Unspecified MIR20B +OMIM:212093 skos:exactMatch UMLS:C1859330 Unspecified cardiac valvular defect, developmental +OMIM:300953 skos:exactMatch ORPHA:33364 Unspecified trichothiodystrophy 5, nonphotosensitive +OMIM:300953 skos:exactMatch UMLS:C4225420 Unspecified trichothiodystrophy 5, nonphotosensitive +OMIM:618782 skos:exactMatch UMLS:C5394068 Unspecified long qt syndrome 16 +OMIM:618782 skos:exactMatch UMLS:C5394069 Unspecified long qt syndrome 16 +OMIM:300952 skos:exactMatch UMLS:C4225421 Unspecified linear skin defects with multiple congenital anomalies 3 +OMIM:618781 skos:exactMatch UMLS:C5394063 Unspecified ciliary dyskinesia, primary, 44 +OMIM:618781 skos:exactMatch ORPHA:244 Unspecified ciliary dyskinesia, primary, 44 +OMIM:616120 skos:exactMatch HGNC:25613 Unspecified CWF19L1 +OMIM:616120 skos:exactMatch HGNC_symbol:CWF19L1 Unspecified CWF19L1 +OMIM:616120 skos:exactMatch UMLS:C1428506 Unspecified CWF19L1 +OMIM:300955 skos:exactMatch HGNC_symbol:APOOL Unspecified APOOL +OMIM:300955 skos:exactMatch HGNC:24009 Unspecified APOOL +OMIM:300955 skos:exactMatch UMLS:C1824094 Unspecified APOOL +OMIM:616121 skos:exactMatch HGNC_symbol:GVINP1 Unspecified gtpase, very large interferon-inducible, pseudogene 1 +OMIM:616121 skos:exactMatch UMLS:C3889637 Unspecified gtpase, very large interferon-inducible, pseudogene 1 +OMIM:616121 skos:exactMatch HGNC:25813 Unspecified gtpase, very large interferon-inducible, pseudogene 1 +OMIM:618784 skos:exactMatch UMLS:C1823748 Unspecified PITHD1 +OMIM:618784 skos:exactMatch HGNC:25022 Unspecified PITHD1 +OMIM:618784 skos:exactMatch HGNC_symbol:PITHD1 Unspecified PITHD1 +OMIM:618783 skos:exactMatch HGNC_symbol:CCNI Unspecified CCNI +OMIM:618783 skos:exactMatch HGNC:1595 Unspecified CCNI +OMIM:618783 skos:exactMatch UMLS:C1413182 Unspecified CCNI +OMIM:300954 skos:exactMatch UMLS:C1824828 Unspecified EOLA1 +OMIM:300954 skos:exactMatch HGNC_symbol:EOLA1 Unspecified EOLA1 +OMIM:300954 skos:exactMatch HGNC:28089 Unspecified EOLA1 +OMIM:616122 skos:exactMatch HGNC:28268 Unspecified FAM86B1 +OMIM:616122 skos:exactMatch HGNC_symbol:FAM86B1 Unspecified FAM86B1 +OMIM:616122 skos:exactMatch UMLS:C1825174 Unspecified FAM86B1 +OMIM:618786 skos:exactMatch ORPHA:3447 Unspecified imagawa-matsumoto syndrome +OMIM:618786 skos:exactMatch UMLS:C5394073 Unspecified imagawa-matsumoto syndrome +OMIM:300957 skos:exactMatch ORPHA:457240 Unspecified intellectual developmental disorder, X-linked 12 +OMIM:300957 skos:exactMatch UMLS:C0796218 Unspecified intellectual developmental disorder, X-linked 12 +OMIM:300957 skos:exactMatch UMLS:C0796242 Unspecified intellectual developmental disorder, X-linked 12 +OMIM:616123 skos:exactMatch HGNC:32222 Unspecified FAM86B2 +OMIM:616123 skos:exactMatch UMLS:C1825175 Unspecified FAM86B2 +OMIM:616123 skos:exactMatch HGNC_symbol:FAM86B2 Unspecified FAM86B2 +OMIM:618785 skos:exactMatch HGNC_symbol:CDCA2 Unspecified CDCA2 +OMIM:618785 skos:exactMatch HGNC:14623 Unspecified CDCA2 +OMIM:618785 skos:exactMatch UMLS:C1422795 Unspecified CDCA2 +OMIM:616124 skos:exactMatch UMLS:C3470175 Unspecified FAM86C1P +OMIM:616124 skos:exactMatch HGNC:25561 Unspecified FAM86C1P +OMIM:616124 skos:exactMatch HGNC_symbol:FAM86C1P Unspecified FAM86C1P +OMIM:300956 skos:exactMatch UMLS:C1425649 Unspecified BRAFP1 +OMIM:300956 skos:exactMatch HGNC:18615 Unspecified BRAFP1 +OMIM:300956 skos:exactMatch HGNC_symbol:BRAFP1 Unspecified BRAFP1 +OMIM:618788 skos:exactMatch UMLS:C1824660 Unspecified CCDC134 +OMIM:618788 skos:exactMatch HGNC_symbol:CCDC134 Unspecified CCDC134 +OMIM:618788 skos:exactMatch HGNC:26185 Unspecified CCDC134 +OMIM:300959 skos:exactMatch HGNC_symbol:DIPK2B Unspecified DIPK2B +OMIM:300959 skos:exactMatch UMLS:C1539183 Unspecified DIPK2B +OMIM:300959 skos:exactMatch HGNC:25866 Unspecified DIPK2B +OMIM:616125 skos:exactMatch HGNC:25099 Unspecified PRMT9 +OMIM:616125 skos:exactMatch UMLS:C3887717 Unspecified PRMT9 +OMIM:616125 skos:exactMatch HGNC_symbol:PRMT9 Unspecified PRMT9 +OMIM:616126 skos:exactMatch UMLS:C4015293 Unspecified immunodeficiency 38 with basal ganglia calcification +OMIM:618787 skos:exactMatch UMLS:C5394080 Unspecified deafness, autosomal dominant 76 +OMIM:618787 skos:exactMatch ORPHA:90635 Unspecified deafness, autosomal dominant 76 +OMIM:300958 skos:exactMatch ORPHA:457260 Unspecified intellectual developmental disorder, x-linked, syndromic, snijders blok iia +OMIM:300958 skos:exactMatch UMLS:C5393299 Unspecified intellectual developmental disorder, x-linked, syndromic, snijders blok iia +OMIM:616116 skos:exactMatch UMLS:C4015283 Unspecified intellectual developmental disorder, autosomal recessive 46 +OMIM:618779 skos:exactMatch UMLS:C5241442 Unspecified coffin-siris syndrome 11 +OMIM:618779 skos:exactMatch ORPHA:1465 Unspecified coffin-siris syndrome 11 +OMIM:616117 skos:exactMatch UMLS:C4015285 Unspecified cardiac conduction disease with or without dilated cardiomyopathy +OMIM:616117 skos:exactMatch ORPHA:436242 Unspecified cardiac conduction disease with or without dilated cardiomyopathy +OMIM:618778 skos:exactMatch UMLS:C5394059 Unspecified deafness, autosomal dominant 75 +OMIM:618778 skos:exactMatch ORPHA:90635 Unspecified deafness, autosomal dominant 75 +OMIM:616118 skos:exactMatch UMLS:C4015286 Unspecified macular degeneration, early-onset +OMIM:616119 skos:exactMatch HGNC_symbol:CFAP126 Unspecified CFAP126 +OMIM:616119 skos:exactMatch HGNC:32325 Unspecified CFAP126 +OMIM:616119 skos:exactMatch UMLS:C1823806 Unspecified CFAP126 +OMIM:273000 skos:exactMatch UMLS:C0016873 Unspecified teeth, fused +OMIM:604141 skos:exactMatch HGNC:15772 Unspecified ARFGEF1 +OMIM:604141 skos:exactMatch HGNC_symbol:ARFGEF1 Unspecified ARFGEF1 +OMIM:604141 skos:exactMatch UMLS:C1538920 Unspecified ARFGEF1 +OMIM:604140 skos:exactMatch UMLS:C1824935 Unspecified DIDO1 +OMIM:604140 skos:exactMatch HGNC_symbol:DIDO1 Unspecified DIDO1 +OMIM:604140 skos:exactMatch HGNC:2680 Unspecified DIDO1 +OMIM:604143 skos:exactMatch HGNC:16856 Unspecified ESPL1 +OMIM:604143 skos:exactMatch HGNC_symbol:ESPL1 Unspecified ESPL1 +OMIM:604143 skos:exactMatch UMLS:C1424597 Unspecified ESPL1 +OMIM:604142 skos:exactMatch UMLS:C1336692 Unspecified TYROBP +OMIM:604142 skos:exactMatch HGNC_symbol:TYROBP Unspecified TYROBP +OMIM:604142 skos:exactMatch HGNC:12449 Unspecified TYROBP +OMIM:604145 skos:exactMatch UMLS:C1858763 Unspecified cardiomyopathy, dilated, 1g +OMIM:604144 skos:exactMatch UMLS:C0010691 Unspecified None +OMIM:604144 skos:exactMatch HGNC_symbol:SLC7A9 Unspecified None +OMIM:604144 skos:exactMatch HGNC:11067 Unspecified None +OMIM:604144 skos:exactMatch UMLS:C1420228 Unspecified None +OMIM:604147 skos:exactMatch HGNC:9690 Unspecified PTTG1 +OMIM:604147 skos:exactMatch UMLS:C0919521 Unspecified PTTG1 +OMIM:604147 skos:exactMatch HGNC_symbol:PTTG1 Unspecified PTTG1 +OMIM:604146 skos:exactMatch UMLS:C1418293 Unspecified SYT7 +OMIM:604146 skos:exactMatch HGNC:11514 Unspecified SYT7 +OMIM:604146 skos:exactMatch HGNC_symbol:SYT7 Unspecified SYT7 +OMIM:604127 skos:exactMatch HGNC:11594 Unspecified TBX15 +OMIM:604127 skos:exactMatch UMLS:C1420605 Unspecified TBX15 +OMIM:604127 skos:exactMatch HGNC_symbol:TBX15 Unspecified TBX15 +OMIM:604127 skos:exactMatch UMLS:C1850040 Unspecified TBX15 +OMIM:604126 skos:exactMatch UMLS:C5436656 Unspecified SVIL +OMIM:604126 skos:exactMatch UMLS:C1420533 Unspecified SVIL +OMIM:604126 skos:exactMatch HGNC_symbol:SVIL Unspecified SVIL +OMIM:604126 skos:exactMatch HGNC:11480 Unspecified SVIL +OMIM:604129 skos:exactMatch UMLS:C1275114 Unspecified epidermolysis bullosa pruriginosa +OMIM:606788 skos:exactMatch UMLS:C1847492 Unspecified anorexia nervosa, susceptibility to +OMIM:606789 skos:exactMatch UMLS:C1969842 Unspecified fetal hemoglobin quantitative trait locus 4 +OMIM:604128 skos:exactMatch HGNC:11615 Unspecified TCEA3 +OMIM:604128 skos:exactMatch UMLS:C1420625 Unspecified TCEA3 +OMIM:604128 skos:exactMatch HGNC_symbol:TCEA3 Unspecified TCEA3 +OMIM:300960 skos:exactMatch UMLS:C4085243 Unspecified mend syndrome +OMIM:300962 skos:exactMatch HGNC:26044 Unspecified GEMIN8 +OMIM:300962 skos:exactMatch HGNC_symbol:GEMIN8 Unspecified GEMIN8 +OMIM:300962 skos:exactMatch UMLS:C1825340 Unspecified GEMIN8 +OMIM:300961 skos:exactMatch UMLS:C1537697 Unspecified MID1IP1 +OMIM:300961 skos:exactMatch HGNC_symbol:MID1IP1 Unspecified MID1IP1 +OMIM:300961 skos:exactMatch HGNC:20715 Unspecified MID1IP1 +OMIM:300964 skos:exactMatch HGNC:25726 Unspecified LAS1L +OMIM:300964 skos:exactMatch HGNC_symbol:LAS1L Unspecified LAS1L +OMIM:300964 skos:exactMatch UMLS:C1537526 Unspecified LAS1L +OMIM:618771 skos:exactMatch HGNC:24538 Unspecified ABHD14A +OMIM:618771 skos:exactMatch HGNC_symbol:ABHD14A Unspecified ABHD14A +OMIM:618771 skos:exactMatch UMLS:C1538897 Unspecified ABHD14A +OMIM:618770 skos:exactMatch UMLS:C5394037 Unspecified spastic paraplegia 82, autosomal recessive +OMIM:300963 skos:exactMatch UMLS:C4225419 Unspecified ritscher-schinzel syndrome 2 +OMIM:618773 skos:exactMatch UMLS:C5231496 Unspecified lymphatic malformation 8 +OMIM:616110 skos:exactMatch HGNC:29151 Unspecified DTX4 +OMIM:616110 skos:exactMatch UMLS:C1428799 Unspecified DTX4 +OMIM:616110 skos:exactMatch HGNC_symbol:DTX4 Unspecified DTX4 +OMIM:300966 skos:exactMatch UMLS:C4225418 Unspecified intellectual developmental disorder, x-linked, syndromic 33 +OMIM:618772 skos:exactMatch HGNC:16143 Unspecified CABLES2 +OMIM:618772 skos:exactMatch HGNC_symbol:CABLES2 Unspecified CABLES2 +OMIM:618772 skos:exactMatch UMLS:C1424021 Unspecified CABLES2 +OMIM:300965 skos:exactMatch HGNC_symbol:RTL9 Unspecified RGAG1 +OMIM:300965 skos:exactMatch UMLS:C1538833 Unspecified RGAG1 +OMIM:300965 skos:exactMatch HGNC:29245 Unspecified RGAG1 +OMIM:616111 skos:exactMatch UMLS:C4015253 Unspecified mitochondrial complex 3 deficiency, nuclear iia 9 +OMIM:616112 skos:exactMatch UMLS:C1416888 Unspecified LMOD3 +OMIM:616112 skos:exactMatch HGNC_symbol:LMOD3 Unspecified LMOD3 +OMIM:616112 skos:exactMatch HGNC:6649 Unspecified LMOD3 +OMIM:618775 skos:exactMatch UMLS:C5394051 Unspecified mitochondrial complex 3 deficiency, nuclear iia 10 +OMIM:618775 skos:exactMatch ORPHA:1460 Unspecified mitochondrial complex 3 deficiency, nuclear iia 10 +OMIM:300968 skos:exactMatch UMLS:C4225416 Unspecified intellectual developmental disorder, X-linked 99, syndromic, female-restricted +OMIM:616113 skos:exactMatch UMLS:C4015261 Unspecified polyendocrine-polyneuropathy syndrome +OMIM:618774 skos:exactMatch UMLS:C5394044 Unspecified cebalid syndrome +OMIM:300967 skos:exactMatch UMLS:C4225417 Unspecified intellectual developmental disorder, x-linked, syndromic 34 +OMIM:616114 skos:exactMatch HGNC_symbol:CHD6 Unspecified CHD6 +OMIM:616114 skos:exactMatch UMLS:C1425982 Unspecified CHD6 +OMIM:616114 skos:exactMatch HGNC:19057 Unspecified CHD6 +OMIM:618777 skos:exactMatch HGNC_symbol:CAPN8 Unspecified CAPN8 +OMIM:618777 skos:exactMatch HGNC:1485 Unspecified CAPN8 +OMIM:618777 skos:exactMatch UMLS:C1413118 Unspecified CAPN8 +OMIM:616115 skos:exactMatch UMLS:C4015276 Unspecified familial cold autoinflammatory syndrome 4 +OMIM:300969 skos:exactMatch HGNC:25169 Unspecified GPRASP2 +OMIM:300969 skos:exactMatch UMLS:C1539613 Unspecified GPRASP2 +OMIM:300969 skos:exactMatch HGNC_symbol:GPRASP2 Unspecified GPRASP2 +OMIM:618776 skos:exactMatch UMLS:C5394053 Unspecified mitochondrial complex 1 deficiency, nuclear iia 34 +OMIM:618776 skos:exactMatch ORPHA:2609 Unspecified mitochondrial complex 1 deficiency, nuclear iia 34 +OMIM:616105 skos:exactMatch UMLS:C4225355 Unspecified SNX14 +OMIM:616105 skos:exactMatch HGNC:14977 Unspecified SNX14 +OMIM:616105 skos:exactMatch HGNC_symbol:SNX14 Unspecified SNX14 +OMIM:616105 skos:exactMatch UMLS:C1423104 Unspecified SNX14 +OMIM:618768 skos:exactMatch ORPHA:506353 Unspecified spastic paraplegia 81, autosomal recessive +OMIM:618768 skos:exactMatch UMLS:C5394033 Unspecified spastic paraplegia 81, autosomal recessive +OMIM:616106 skos:exactMatch UMLS:C4015235 Unspecified psoriasis 15, pustular, susceptibility to +OMIM:616106 skos:exactMatch ORPHA:247353 Unspecified psoriasis 15, pustular, susceptibility to +OMIM:618767 skos:exactMatch ORPHA:98954 Unspecified corneal dystrophy, meesmann, 2 +OMIM:618767 skos:exactMatch UMLS:C5231495 Unspecified corneal dystrophy, meesmann, 2 +OMIM:616107 skos:exactMatch HGNC_symbol:FAR1 Unspecified FAR1 +OMIM:616107 skos:exactMatch UMLS:C1428564 Unspecified FAR1 +OMIM:616107 skos:exactMatch HGNC:26222 Unspecified FAR1 +OMIM:618769 skos:exactMatch UMLS:C1540249 Unspecified DRC7 +OMIM:618769 skos:exactMatch HGNC_symbol:DRC7 Unspecified DRC7 +OMIM:618769 skos:exactMatch HGNC:25289 Unspecified DRC7 +OMIM:616108 skos:exactMatch UMLS:C4015242 Unspecified retinal dystrophy, juvenile cataracts, and short stature syndrome +OMIM:616109 skos:exactMatch UMLS:C2240299 Unspecified C11ORF80 +OMIM:616109 skos:exactMatch UMLS:C1414700 Unspecified C11ORF80 +OMIM:616109 skos:exactMatch HGNC:26197 Unspecified C11ORF80 +OMIM:616109 skos:exactMatch HGNC_symbol:C11orf80 Unspecified C11ORF80 +OMIM:606790 skos:exactMatch HGNC:19319 Unspecified CD300A +OMIM:606790 skos:exactMatch UMLS:C1540294 Unspecified CD300A +OMIM:606790 skos:exactMatch HGNC_symbol:CD300A Unspecified CD300A +OMIM:606793 skos:exactMatch HGNC:7900 Unspecified NPEPPS +OMIM:606793 skos:exactMatch HGNC_symbol:NPEPPS Unspecified NPEPPS +OMIM:606793 skos:exactMatch UMLS:C1417779 Unspecified NPEPPS +OMIM:604130 skos:exactMatch HGNC_symbol:UTF1 Unspecified UTF1 +OMIM:604130 skos:exactMatch HGNC:12634 Unspecified UTF1 +OMIM:604130 skos:exactMatch UMLS:C1421411 Unspecified UTF1 +OMIM:606794 skos:exactMatch HGNC_symbol:SLC25A10 Unspecified SLC25A10 +OMIM:606794 skos:exactMatch UMLS:C1420151 Unspecified SLC25A10 +OMIM:606794 skos:exactMatch UMLS:C5436514 Unspecified SLC25A10 +OMIM:606794 skos:exactMatch HGNC:10980 Unspecified SLC25A10 +OMIM:309300 skos:exactMatch UMLS:C0344530 Unspecified megalocornea +OMIM:606791 skos:exactMatch HGNC_symbol:TPTE2 Unspecified TPTE2 +OMIM:606791 skos:exactMatch UMLS:C1540044 Unspecified TPTE2 +OMIM:606791 skos:exactMatch HGNC:17299 Unspecified TPTE2 +OMIM:606792 skos:exactMatch UMLS:C1424950 Unspecified HRH4 +OMIM:606792 skos:exactMatch HGNC_symbol:HRH4 Unspecified HRH4 +OMIM:606792 skos:exactMatch HGNC:17383 Unspecified HRH4 +OMIM:604131 skos:exactMatch UMLS:C0002312 Unspecified alpha-thalassemia +OMIM:606797 skos:exactMatch UMLS:C1366520 Unspecified ST14 +OMIM:606797 skos:exactMatch HGNC_symbol:ST14 Unspecified ST14 +OMIM:606797 skos:exactMatch HGNC:11344 Unspecified ST14 +OMIM:604134 skos:exactMatch HGNC:1366 Unspecified ADAMTS13 +OMIM:604134 skos:exactMatch HGNC_symbol:ADAMTS13 Unspecified ADAMTS13 +OMIM:604134 skos:exactMatch UMLS:C1413036 Unspecified ADAMTS13 +OMIM:604134 skos:exactMatch UMLS:C5394574 Unspecified ADAMTS13 +OMIM:604134 skos:exactMatch UMLS:C1268935 Unspecified ADAMTS13 +OMIM:606798 skos:exactMatch UMLS:C4692845 Unspecified blepharospasm, benign essential, susceptibility to +OMIM:606795 skos:exactMatch HGNC_symbol:SLC25A17 Unspecified SLC25A17 +OMIM:606795 skos:exactMatch UMLS:C1420158 Unspecified SLC25A17 +OMIM:606795 skos:exactMatch HGNC:10987 Unspecified SLC25A17 +OMIM:604136 skos:exactMatch UMLS:C1366521 Unspecified IL24 +OMIM:604136 skos:exactMatch HGNC_symbol:IL24 Unspecified IL24 +OMIM:604136 skos:exactMatch HGNC:11346 Unspecified IL24 +OMIM:604135 skos:exactMatch UMLS:C1417702 Unspecified NFE2L3 +OMIM:604135 skos:exactMatch HGNC_symbol:NFE2L3 Unspecified NFE2L3 +OMIM:604135 skos:exactMatch HGNC:7783 Unspecified NFE2L3 +OMIM:606796 skos:exactMatch HGNC_symbol:ST13 Unspecified ST13 +OMIM:606796 skos:exactMatch HGNC:11343 Unspecified ST13 +OMIM:606796 skos:exactMatch UMLS:C1337104 Unspecified ST13 +OMIM:604116 skos:exactMatch ORPHA:1872 Unspecified cone-rod dystrophy 3 +OMIM:604116 skos:exactMatch UMLS:C1858806 Unspecified cone-rod dystrophy 3 +OMIM:606779 skos:exactMatch UMLS:C1539856 Unspecified SSH2 +OMIM:606779 skos:exactMatch HGNC:30580 Unspecified SSH2 +OMIM:606779 skos:exactMatch HGNC_symbol:SSH2 Unspecified SSH2 +OMIM:604115 skos:exactMatch UMLS:C1416613 Unspecified KCNQ1OT1 +OMIM:604115 skos:exactMatch HGNC_symbol:KCNQ1OT1 Unspecified KCNQ1OT1 +OMIM:604115 skos:exactMatch HGNC:6295 Unspecified KCNQ1OT1 +OMIM:604118 skos:exactMatch HGNC_symbol:RASAL1 Unspecified RASAL1 +OMIM:604118 skos:exactMatch HGNC:9873 Unspecified RASAL1 +OMIM:604118 skos:exactMatch UMLS:C1419279 Unspecified RASAL1 +OMIM:606777 skos:exactMatch UMLS:C3149117 Unspecified glut1 deficiency syndrome 1 +OMIM:606777 skos:exactMatch UMLS:C4551966 Unspecified glut1 deficiency syndrome 1 +OMIM:606778 skos:exactMatch UMLS:C1539855 Unspecified SSH1 +OMIM:606778 skos:exactMatch HGNC:30579 Unspecified SSH1 +OMIM:606778 skos:exactMatch HGNC_symbol:SSH1 Unspecified SSH1 +OMIM:604117 skos:exactMatch ORPHA:79395 Unspecified vohwinkel syndrome, variant form +OMIM:604117 skos:exactMatch UMLS:C1858805 Unspecified vohwinkel syndrome, variant form +OMIM:604119 skos:exactMatch HGNC_symbol:SLC12A4 Unspecified SLC12A4 +OMIM:604119 skos:exactMatch UMLS:C1420093 Unspecified SLC12A4 +OMIM:604119 skos:exactMatch HGNC:10913 Unspecified SLC12A4 +OMIM:618760 skos:exactMatch UMLS:C5231491 Unspecified neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements +OMIM:300931 skos:exactMatch HGNC:30048 Unspecified PIR +OMIM:300931 skos:exactMatch HGNC_symbol:PIR Unspecified PIR +OMIM:300931 skos:exactMatch UMLS:C1538650 Unspecified PIR +OMIM:261000 skos:exactMatch UMLS:C1394891 Unspecified intrinsic factor deficiency +OMIM:261000 skos:exactMatch ORPHA:332 Unspecified intrinsic factor deficiency +OMIM:300930 skos:exactMatch UMLS:C2239668 Unspecified MAP7D3 +OMIM:300930 skos:exactMatch HGNC:25742 Unspecified MAP7D3 +OMIM:300930 skos:exactMatch HGNC_symbol:MAP7D3 Unspecified MAP7D3 +OMIM:300933 skos:exactMatch HGNC:28570 Unspecified PIH1D3 +OMIM:300933 skos:exactMatch HGNC_symbol:DNAAF6 Unspecified PIH1D3 +OMIM:300933 skos:exactMatch UMLS:C1539188 Unspecified PIH1D3 +OMIM:618762 skos:exactMatch HGNC:21218 Unspecified DNPH1 +OMIM:618762 skos:exactMatch UMLS:C1427424 Unspecified DNPH1 +OMIM:618762 skos:exactMatch HGNC_symbol:DNPH1 Unspecified DNPH1 +OMIM:300932 skos:exactMatch UMLS:C4310821 Unspecified thyroxine-binding globulin quantitative trait locus +OMIM:616100 skos:exactMatch UMLS:C4015214 Unspecified immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation +OMIM:618761 skos:exactMatch UMLS:C5231492 Unspecified catifa syndrome +OMIM:618764 skos:exactMatch HGNC:23727 Unspecified CACUL1 +OMIM:618764 skos:exactMatch UMLS:C1428228 Unspecified CACUL1 +OMIM:618764 skos:exactMatch HGNC_symbol:CACUL1 Unspecified CACUL1 +OMIM:616101 skos:exactMatch HGNC_symbol:TMEM240 Unspecified TMEM240 +OMIM:616101 skos:exactMatch HGNC:25186 Unspecified TMEM240 +OMIM:616101 skos:exactMatch UMLS:C3470100 Unspecified TMEM240 +OMIM:300935 skos:exactMatch HGNC_symbol:PRRG1 Unspecified PRRG1 +OMIM:300935 skos:exactMatch HGNC:9469 Unspecified PRRG1 +OMIM:300935 skos:exactMatch UMLS:C1418961 Unspecified PRRG1 +OMIM:300934 skos:exactMatch UMLS:C4012395 Unspecified congenital disorder of glycosylation, iia iy +OMIM:616102 skos:exactMatch UMLS:C1540136 Unspecified TMX3 +OMIM:616102 skos:exactMatch HGNC_symbol:TMX3 Unspecified TMX3 +OMIM:616102 skos:exactMatch HGNC:24718 Unspecified TMX3 +OMIM:618763 skos:exactMatch ORPHA:2754 Unspecified joubert syndrome 36 +OMIM:618763 skos:exactMatch UMLS:C5231493 Unspecified joubert syndrome 36 +OMIM:616103 skos:exactMatch HGNC:23404 Unspecified LRIT1 +OMIM:616103 skos:exactMatch UMLS:C1428072 Unspecified LRIT1 +OMIM:616103 skos:exactMatch HGNC_symbol:LRIT1 Unspecified LRIT1 +OMIM:618766 skos:exactMatch UMLS:C5231494 Unspecified arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum +OMIM:300937 skos:exactMatch HGNC_symbol:ARHGAP36 Unspecified ARHGAP36 +OMIM:300937 skos:exactMatch HGNC:26388 Unspecified ARHGAP36 +OMIM:300937 skos:exactMatch UMLS:C2828632 Unspecified ARHGAP36 +OMIM:618765 skos:exactMatch UMLS:C1825066 Unspecified ESF1 +OMIM:618765 skos:exactMatch HGNC_symbol:ESF1 Unspecified ESF1 +OMIM:618765 skos:exactMatch HGNC:15898 Unspecified ESF1 +OMIM:300936 skos:exactMatch HGNC_symbol:FTX Unspecified FTX +OMIM:300936 skos:exactMatch HGNC:37190 Unspecified FTX +OMIM:300936 skos:exactMatch UMLS:C3147341 Unspecified FTX +OMIM:616104 skos:exactMatch HGNC_symbol:RBPJL Unspecified RBPJL +OMIM:616104 skos:exactMatch HGNC:13761 Unspecified RBPJL +OMIM:616104 skos:exactMatch UMLS:C1422188 Unspecified RBPJL +OMIM:618757 skos:exactMatch HGNC:23014 Unspecified CYB561A3 +OMIM:618757 skos:exactMatch UMLS:C3543729 Unspecified CYB561A3 +OMIM:618757 skos:exactMatch HGNC_symbol:CYB561A3 Unspecified CYB561A3 +OMIM:300939 skos:exactMatch UMLS:C1540031 Unspecified TMSB15A +OMIM:300939 skos:exactMatch HGNC_symbol:TMSB15A Unspecified TMSB15A +OMIM:300939 skos:exactMatch HGNC:30744 Unspecified TMSB15A +OMIM:300938 skos:exactMatch UMLS:C1417516 Unspecified MXRA5 +OMIM:300938 skos:exactMatch HGNC_symbol:MXRA5 Unspecified MXRA5 +OMIM:300938 skos:exactMatch HGNC:7539 Unspecified MXRA5 +OMIM:618756 skos:exactMatch HGNC_symbol:ABHD10 Unspecified ABHD10 +OMIM:618756 skos:exactMatch UMLS:C1538895 Unspecified ABHD10 +OMIM:618756 skos:exactMatch HGNC:25656 Unspecified ABHD10 +OMIM:618759 skos:exactMatch HGNC_symbol:CABP7 Unspecified CABP7 +OMIM:618759 skos:exactMatch UMLS:C1427154 Unspecified CABP7 +OMIM:618759 skos:exactMatch HGNC:20834 Unspecified CABP7 +OMIM:618758 skos:exactMatch UMLS:C1825895 Unspecified DRC3 +OMIM:618758 skos:exactMatch HGNC_symbol:DRC3 Unspecified DRC3 +OMIM:618758 skos:exactMatch HGNC:25384 Unspecified DRC3 +OMIM:606782 skos:exactMatch UMLS:C1539085 Unspecified CLEC1A +OMIM:606782 skos:exactMatch HGNC:24355 Unspecified CLEC1A +OMIM:606782 skos:exactMatch HGNC_symbol:CLEC1A Unspecified CLEC1A +OMIM:606783 skos:exactMatch UMLS:C1539086 Unspecified CLEC1B +OMIM:606783 skos:exactMatch HGNC:24356 Unspecified CLEC1B +OMIM:606783 skos:exactMatch HGNC_symbol:CLEC1B Unspecified CLEC1B +OMIM:312910 skos:exactMatch UMLS:C2931291 Unspecified spastic paraparesis and deafness +OMIM:606780 skos:exactMatch HGNC:30581 Unspecified SSH3 +OMIM:606780 skos:exactMatch HGNC_symbol:SSH3 Unspecified SSH3 +OMIM:606780 skos:exactMatch UMLS:C1539857 Unspecified SSH3 +OMIM:604121 skos:exactMatch UMLS:C3807295 Unspecified cerebellar ataxia, deafness, and narcolepsy, autosomal dominant +OMIM:190197 skos:exactMatch HGNC:2172 Unspecified CNTN2 +OMIM:190197 skos:exactMatch UMLS:C3809374 Unspecified CNTN2 +OMIM:190197 skos:exactMatch UMLS:C1413560 Unspecified CNTN2 +OMIM:190197 skos:exactMatch HGNC_symbol:CNTN2 Unspecified CNTN2 +OMIM:190198 skos:exactMatch UMLS:C4014970 Unspecified NOTCH1 +OMIM:190198 skos:exactMatch HGNC_symbol:NOTCH1 Unspecified NOTCH1 +OMIM:190198 skos:exactMatch HGNC:7881 Unspecified NOTCH1 +OMIM:190198 skos:exactMatch UMLS:C1334889 Unspecified NOTCH1 +OMIM:190198 skos:exactMatch UMLS:C3887892 Unspecified NOTCH1 +OMIM:606781 skos:exactMatch UMLS:C1420750 Unspecified TKT +OMIM:606781 skos:exactMatch HGNC_symbol:TKT Unspecified TKT +OMIM:606781 skos:exactMatch HGNC:11834 Unspecified TKT +OMIM:190195 skos:exactMatch UMLS:C1420713 Unspecified TGM1 +OMIM:190195 skos:exactMatch HGNC_symbol:TGM1 Unspecified TGM1 +OMIM:190195 skos:exactMatch UMLS:C4551630 Unspecified TGM1 +OMIM:190195 skos:exactMatch UMLS:C4016409 Unspecified TGM1 +OMIM:190195 skos:exactMatch HGNC:11777 Unspecified TGM1 +OMIM:604123 skos:exactMatch HGNC:18466 Unspecified RNASEH1 +OMIM:604123 skos:exactMatch HGNC_symbol:RNASEH1 Unspecified RNASEH1 +OMIM:604123 skos:exactMatch UMLS:C1425532 Unspecified RNASEH1 +OMIM:606786 skos:exactMatch UMLS:C1540295 Unspecified CD300C +OMIM:606786 skos:exactMatch HGNC_symbol:CD300C Unspecified CD300C +OMIM:606786 skos:exactMatch HGNC:19320 Unspecified CD300C +OMIM:190196 skos:exactMatch UMLS:C1420714 Unspecified TGM2 +OMIM:190196 skos:exactMatch HGNC_symbol:TGM2 Unspecified TGM2 +OMIM:190196 skos:exactMatch HGNC:11778 Unspecified TGM2 +OMIM:604122 skos:exactMatch HGNC:8959 Unspecified PIGB +OMIM:604122 skos:exactMatch UMLS:C5231418 Unspecified PIGB +OMIM:604122 skos:exactMatch HGNC_symbol:PIGB Unspecified PIGB +OMIM:604122 skos:exactMatch UMLS:C1418560 Unspecified PIGB +OMIM:606787 skos:exactMatch UMLS:C1847493 Unspecified peripheral arterial occlusive disease 1 +OMIM:606784 skos:exactMatch UMLS:C1415320 Unspecified GSK3A +OMIM:606784 skos:exactMatch HGNC:4616 Unspecified GSK3A +OMIM:606784 skos:exactMatch HGNC_symbol:GSK3A Unspecified GSK3A +OMIM:604125 skos:exactMatch HGNC_symbol:SULT2B1 Unspecified SULT2B1 +OMIM:604125 skos:exactMatch UMLS:C1420520 Unspecified SULT2B1 +OMIM:604125 skos:exactMatch HGNC:11459 Unspecified SULT2B1 +OMIM:604124 skos:exactMatch HGNC_symbol:RBBP8 Unspecified RBBP8 +OMIM:604124 skos:exactMatch HGNC:9891 Unspecified RBBP8 +OMIM:604124 skos:exactMatch UMLS:C1419293 Unspecified RBBP8 +OMIM:606785 skos:exactMatch UMLS:C2931132 Unspecified crigler-najjar syndrome, iia 2 +OMIM:606768 skos:exactMatch UMLS:C1847532 Unspecified myopathy, distal, with anterior tibial onset +OMIM:604105 skos:exactMatch HGNC_symbol:SYCP2 Unspecified SYCP2 +OMIM:604105 skos:exactMatch HGNC:11490 Unspecified SYCP2 +OMIM:604105 skos:exactMatch UMLS:C1420540 Unspecified SYCP2 +OMIM:604105 skos:exactMatch UMLS:C0403810 Unspecified SYCP2 +OMIM:606769 skos:exactMatch HGNC_symbol:HELQ Unspecified HELQ +OMIM:606769 skos:exactMatch HGNC:18536 Unspecified HELQ +OMIM:606769 skos:exactMatch UMLS:C1847531 Unspecified HELQ +OMIM:604104 skos:exactMatch HGNC:4374 Unspecified GMFG +OMIM:604104 skos:exactMatch HGNC_symbol:GMFG Unspecified GMFG +OMIM:604104 skos:exactMatch UMLS:C1415133 Unspecified GMFG +OMIM:606766 skos:exactMatch UMLS:C4721889 Unspecified spermatogenic failure 3 +OMIM:604107 skos:exactMatch HGNC:4511 Unspecified GPR55 +OMIM:604107 skos:exactMatch UMLS:C1415245 Unspecified GPR55 +OMIM:604107 skos:exactMatch HGNC_symbol:GPR55 Unspecified GPR55 +OMIM:606767 skos:exactMatch HGNC:18306 Unspecified KCNG3 +OMIM:606767 skos:exactMatch HGNC_symbol:KCNG3 Unspecified KCNG3 +OMIM:606767 skos:exactMatch UMLS:C1425436 Unspecified KCNG3 +OMIM:604106 skos:exactMatch HGNC:4508 Unspecified GPR52 +OMIM:604106 skos:exactMatch UMLS:C1415243 Unspecified GPR52 +OMIM:604106 skos:exactMatch HGNC_symbol:GPR52 Unspecified GPR52 +OMIM:604109 skos:exactMatch HGNC_symbol:HHLA1 Unspecified HHLA1 +OMIM:604109 skos:exactMatch HGNC:4904 Unspecified HHLA1 +OMIM:604109 skos:exactMatch UMLS:C1415539 Unspecified HHLA1 +OMIM:263650 skos:exactMatch UMLS:C1849718 Unspecified bartsocas-papas syndrome 1 +OMIM:604108 skos:exactMatch HGNC:6869 Unspecified MAP7 +OMIM:604108 skos:exactMatch UMLS:C1417023 Unspecified MAP7 +OMIM:604108 skos:exactMatch HGNC_symbol:MAP7 Unspecified MAP7 +OMIM:300940 skos:exactMatch UMLS:C1539556 Unspecified GDPD2 +OMIM:300940 skos:exactMatch HGNC:25974 Unspecified GDPD2 +OMIM:300940 skos:exactMatch HGNC_symbol:GDPD2 Unspecified GDPD2 +OMIM:300942 skos:exactMatch UMLS:C3891556 Unspecified chromosome xq26.3 duplication syndrome +OMIM:300941 skos:exactMatch UMLS:C3469822 Unspecified SLC25A53 +OMIM:300941 skos:exactMatch HGNC:31894 Unspecified SLC25A53 +OMIM:300941 skos:exactMatch HGNC_symbol:SLC25A53 Unspecified SLC25A53 +OMIM:618751 skos:exactMatch ORPHA:276234 Unspecified spermatogenic failure 43 +OMIM:618751 skos:exactMatch UMLS:C5231490 Unspecified spermatogenic failure 43 +OMIM:300944 skos:exactMatch HGNC_symbol:CSAG1 Unspecified CSAG1 +OMIM:300944 skos:exactMatch UMLS:C1539140 Unspecified CSAG1 +OMIM:300944 skos:exactMatch HGNC:24294 Unspecified CSAG1 +OMIM:300943 skos:exactMatch UMLS:C4012409 Unspecified pituitary adenoma 2, growth hormone-secreting +OMIM:618750 skos:exactMatch HGNC:17369 Unspecified ABT1 +OMIM:618750 skos:exactMatch HGNC_symbol:ABT1 Unspecified ABT1 +OMIM:618750 skos:exactMatch UMLS:C1424941 Unspecified ABT1 +OMIM:300946 skos:exactMatch UMLS:C4225422 Unspecified diamond-blackfan anemia 14 with mandibulofacial dysostosis +OMIM:618753 skos:exactMatch UMLS:C1825888 Unspecified LRRC41 +OMIM:618753 skos:exactMatch HGNC:16917 Unspecified LRRC41 +OMIM:618753 skos:exactMatch HGNC_symbol:LRRC41 Unspecified LRRC41 +OMIM:618752 skos:exactMatch UMLS:C5203411 Unspecified neutropenia, severe congenital, 8, autosomal dominant +OMIM:618752 skos:exactMatch ORPHA:486 Unspecified neutropenia, severe congenital, 8, autosomal dominant +OMIM:300945 skos:exactMatch UMLS:C1823523 Unspecified TSR2 +OMIM:300945 skos:exactMatch HGNC_symbol:TSR2 Unspecified TSR2 +OMIM:300945 skos:exactMatch HGNC:25455 Unspecified TSR2 +OMIM:300948 skos:exactMatch HGNC:8755 Unspecified PCYT1B +OMIM:300948 skos:exactMatch HGNC_symbol:PCYT1B Unspecified PCYT1B +OMIM:300948 skos:exactMatch UMLS:C1418397 Unspecified PCYT1B +OMIM:618755 skos:exactMatch HGNC:41909 Unspecified STMP1 +OMIM:618755 skos:exactMatch UMLS:C3469749 Unspecified STMP1 +OMIM:618755 skos:exactMatch HGNC_symbol:STMP1 Unspecified STMP1 +OMIM:300947 skos:exactMatch UMLS:C1824647 Unspecified CCDC120 +OMIM:300947 skos:exactMatch HGNC_symbol:CCDC120 Unspecified CCDC120 +OMIM:300947 skos:exactMatch HGNC:28910 Unspecified CCDC120 +OMIM:618754 skos:exactMatch HGNC_symbol:CPQ Unspecified CPQ +OMIM:618754 skos:exactMatch UMLS:C2985237 Unspecified CPQ +OMIM:618754 skos:exactMatch HGNC:16910 Unspecified CPQ +OMIM:618746 skos:exactMatch UMLS:C1429082 Unspecified CTXN3 +OMIM:618746 skos:exactMatch HGNC_symbol:CTXN3 Unspecified CTXN3 +OMIM:618746 skos:exactMatch HGNC:31110 Unspecified CTXN3 +OMIM:618745 skos:exactMatch UMLS:C5231488 Unspecified spermatogenic failure 42 +OMIM:618745 skos:exactMatch ORPHA:276234 Unspecified spermatogenic failure 42 +OMIM:300949 skos:exactMatch HGNC_symbol:FOXR2 Unspecified FOXR2 +OMIM:300949 skos:exactMatch HGNC:30469 Unspecified FOXR2 +OMIM:300949 skos:exactMatch UMLS:C1539529 Unspecified FOXR2 +OMIM:618748 skos:exactMatch UMLS:C5231489 Unspecified intellectual developmental disorder with hypotonia and behavioral abnormalities +OMIM:618747 skos:exactMatch HGNC:30780 Unspecified C1ORF61 +OMIM:618747 skos:exactMatch HGNC_symbol:MIR9-1HG Unspecified C1ORF61 +OMIM:618747 skos:exactMatch UMLS:C1823207 Unspecified C1ORF61 +OMIM:618749 skos:exactMatch UMLS:C1424621 Unspecified LRRC17 +OMIM:618749 skos:exactMatch HGNC_symbol:LRRC17 Unspecified LRRC17 +OMIM:618749 skos:exactMatch HGNC:16895 Unspecified LRRC17 +OMIM:312920 skos:exactMatch UMLS:C1839264 Unspecified spastic paraplegia 2, X-linked +OMIM:606771 skos:exactMatch UMLS:C1847529 Unspecified adiponectin, serum level of, quantitative trait locus 3 +OMIM:275630 skos:exactMatch ORPHA:98907 Unspecified chanarin-dorfman syndrome +OMIM:275630 skos:exactMatch UMLS:C0268238 Unspecified chanarin-dorfman syndrome +OMIM:606772 skos:exactMatch UMLS:C1847522 Unspecified mental retardation, obesity, mandibular prognathism, and eye and skin anomalies +OMIM:604110 skos:exactMatch HGNC:4512 Unspecified ADGRG1 +OMIM:604110 skos:exactMatch HGNC_symbol:ADGRG1 Unspecified ADGRG1 +OMIM:604110 skos:exactMatch UMLS:C1415246 Unspecified ADGRG1 +OMIM:606770 skos:exactMatch UMLS:C1847530 Unspecified adiponectin, serum level of, quantitative trait locus 2 +OMIM:606775 skos:exactMatch HGNC_symbol:CSPG5 Unspecified CSPG5 +OMIM:606775 skos:exactMatch HGNC:2467 Unspecified CSPG5 +OMIM:606775 skos:exactMatch UMLS:C1413765 Unspecified CSPG5 +OMIM:604112 skos:exactMatch HGNC:10573 Unspecified SCEL +OMIM:604112 skos:exactMatch HGNC_symbol:SCEL Unspecified SCEL +OMIM:604112 skos:exactMatch UMLS:C1419848 Unspecified SCEL +OMIM:606776 skos:exactMatch HGNC_symbol:TGM7 Unspecified TGM7 +OMIM:606776 skos:exactMatch HGNC:30790 Unspecified TGM7 +OMIM:606776 skos:exactMatch UMLS:C1539957 Unspecified TGM7 +OMIM:604111 skos:exactMatch UMLS:C1416553 Unspecified KCNAB3 +OMIM:604111 skos:exactMatch HGNC_symbol:KCNAB3 Unspecified KCNAB3 +OMIM:604111 skos:exactMatch HGNC:6230 Unspecified KCNAB3 +OMIM:604114 skos:exactMatch UMLS:C1418631 Unspecified PLCB2 +OMIM:604114 skos:exactMatch HGNC:9055 Unspecified PLCB2 +OMIM:604114 skos:exactMatch HGNC_symbol:PLCB2 Unspecified PLCB2 +OMIM:606773 skos:exactMatch UMLS:C1847521 Unspecified hemifacial myohyperplasia +OMIM:604113 skos:exactMatch HGNC:5987 Unspecified IL18BP +OMIM:604113 skos:exactMatch UMLS:C1416392 Unspecified IL18BP +OMIM:604113 skos:exactMatch HGNC_symbol:IL18BP Unspecified IL18BP +OMIM:604113 skos:exactMatch UMLS:C5231406 Unspecified IL18BP +OMIM:606774 skos:exactMatch HGNC_symbol:MIOX Unspecified MIOX +OMIM:606774 skos:exactMatch UMLS:C1825995 Unspecified MIOX +OMIM:606774 skos:exactMatch HGNC:14522 Unspecified MIOX +OMIM:300991 skos:exactMatch UMLS:C4478372 Unspecified ciliary dyskinesia, primary, 36, X-linked +OMIM:300990 skos:exactMatch ORPHA:86818 Unspecified midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis +OMIM:300990 skos:exactMatch UMLS:C4310810 Unspecified midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis +OMIM:300993 skos:exactMatch UMLS:C1538592 Unspecified PASD1 +OMIM:300993 skos:exactMatch HGNC_symbol:PASD1 Unspecified PASD1 +OMIM:300993 skos:exactMatch HGNC:20686 Unspecified PASD1 +OMIM:300992 skos:exactMatch HGNC_symbol:NBDY Unspecified NBDY +OMIM:300992 skos:exactMatch UMLS:C4320588 Unspecified NBDY +OMIM:300992 skos:exactMatch HGNC:50713 Unspecified NBDY +OMIM:616160 skos:exactMatch HGNC:24547 Unspecified DHRS7B +OMIM:616160 skos:exactMatch HGNC_symbol:DHRS7B Unspecified DHRS7B +OMIM:616160 skos:exactMatch UMLS:C1824930 Unspecified DHRS7B +OMIM:300995 skos:exactMatch HGNC_symbol:KIAA1210 Unspecified KIAA1210 +OMIM:300995 skos:exactMatch HGNC:29218 Unspecified KIAA1210 +OMIM:300995 skos:exactMatch UMLS:C2681627 Unspecified KIAA1210 +OMIM:212050 skos:exactMatch UMLS:C1859353 Unspecified candidiasis, familial, 2 +OMIM:616161 skos:exactMatch HGNC_symbol:DHRS7C Unspecified DHRS7C +OMIM:616161 skos:exactMatch UMLS:C1824931 Unspecified DHRS7C +OMIM:616161 skos:exactMatch HGNC:32423 Unspecified DHRS7C +OMIM:300994 skos:exactMatch HGNC_symbol:HDX Unspecified HDX +OMIM:300994 skos:exactMatch HGNC:26411 Unspecified HDX +OMIM:300994 skos:exactMatch UMLS:C1539190 Unspecified HDX +OMIM:616162 skos:exactMatch HGNC:20275 Unspecified SDR39U1 +OMIM:616162 skos:exactMatch HGNC_symbol:SDR39U1 Unspecified SDR39U1 +OMIM:616162 skos:exactMatch UMLS:C1426829 Unspecified SDR39U1 +OMIM:616163 skos:exactMatch HGNC:25832 Unspecified DHRS12 +OMIM:616163 skos:exactMatch HGNC_symbol:DHRS12 Unspecified DHRS12 +OMIM:616163 skos:exactMatch UMLS:C1824932 Unspecified DHRS12 +OMIM:300997 skos:exactMatch UMLS:C4478379 Unspecified intellectual developmental disorder, X-linked 106 +OMIM:300996 skos:exactMatch HGNC_symbol:YIPF6 Unspecified YIPF6 +OMIM:300996 skos:exactMatch HGNC:28304 Unspecified YIPF6 +OMIM:300996 skos:exactMatch UMLS:C1823891 Unspecified YIPF6 +OMIM:616164 skos:exactMatch UMLS:C2680368 Unspecified SDR42E1 +OMIM:616164 skos:exactMatch HGNC_symbol:SDR42E1 Unspecified SDR42E1 +OMIM:616164 skos:exactMatch HGNC:29834 Unspecified SDR42E1 +OMIM:616165 skos:exactMatch UMLS:C4015360 Unspecified nemaline myopathy 10 +OMIM:300999 skos:exactMatch HGNC:49627 Unspecified FIRRE +OMIM:300999 skos:exactMatch UMLS:C3816902 Unspecified FIRRE +OMIM:300999 skos:exactMatch HGNC_symbol:FIRRE Unspecified FIRRE +OMIM:310310 skos:exactMatch UMLS:C1417526 Unspecified MYCL2 +OMIM:310310 skos:exactMatch HGNC_symbol:MYCLP1 Unspecified MYCL2 +OMIM:310310 skos:exactMatch HGNC:7556 Unspecified MYCL2 +OMIM:616166 skos:exactMatch UMLS:C4015368 Unspecified aortic aneurysm, familial thoracic 9 +OMIM:300998 skos:exactMatch UMLS:C4478383 Unspecified intellectual developmental disorder, x-linked, syndromic, 35 +OMIM:616167 skos:exactMatch HGNC_symbol:DCUN1D3 Unspecified DCUN1D3 +OMIM:616167 skos:exactMatch UMLS:C1824896 Unspecified DCUN1D3 +OMIM:616167 skos:exactMatch HGNC:28734 Unspecified DCUN1D3 +OMIM:131800 skos:exactMatch UMLS:C0080333 Unspecified epidermolysis bullosa simplex 1c, localized +OMIM:616168 skos:exactMatch HGNC_symbol:TOMM6 Unspecified TOMM6 +OMIM:616168 skos:exactMatch UMLS:C2680495 Unspecified TOMM6 +OMIM:616168 skos:exactMatch HGNC:34528 Unspecified TOMM6 +OMIM:616169 skos:exactMatch HGNC:31369 Unspecified TOMM5 +OMIM:616169 skos:exactMatch HGNC_symbol:TOMM5 Unspecified TOMM5 +OMIM:616169 skos:exactMatch UMLS:C1538341 Unspecified TOMM5 +OMIM:604181 skos:exactMatch UMLS:C1419670 Unspecified RPL37 +OMIM:604181 skos:exactMatch HGNC_symbol:RPL37 Unspecified RPL37 +OMIM:604181 skos:exactMatch HGNC:10347 Unspecified RPL37 +OMIM:604180 skos:exactMatch UMLS:C1419649 Unspecified RPL24 +OMIM:604180 skos:exactMatch HGNC:10325 Unspecified RPL24 +OMIM:604180 skos:exactMatch HGNC_symbol:RPL24 Unspecified RPL24 +OMIM:604183 skos:exactMatch UMLS:C0395886 Unspecified cholesteatoma, congenital +OMIM:248010 skos:exactMatch UMLS:C2931597 Unspecified macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance +OMIM:604182 skos:exactMatch HGNC_symbol:RPL38 Unspecified RPL38 +OMIM:604182 skos:exactMatch UMLS:C1419672 Unspecified RPL38 +OMIM:604182 skos:exactMatch HGNC:10349 Unspecified RPL38 +OMIM:604185 skos:exactMatch UMLS:C1858717 Unspecified facial paresis, hereditary congenital, 2 +OMIM:604184 skos:exactMatch HGNC_symbol:IGDCC3 Unspecified PUNC +OMIM:604184 skos:exactMatch HGNC:9700 Unspecified PUNC +OMIM:604184 skos:exactMatch UMLS:C1419137 Unspecified PUNC +OMIM:604187 skos:exactMatch UMLS:C1858712 Unspecified spastic paraplegia 10, autosomal dominant +OMIM:604186 skos:exactMatch UMLS:C1332818 Unspecified CXCL14 +OMIM:604186 skos:exactMatch HGNC:10640 Unspecified CXCL14 +OMIM:604186 skos:exactMatch HGNC_symbol:CXCL14 Unspecified CXCL14 +OMIM:604189 skos:exactMatch HGNC:5271 Unspecified DNAJC4 +OMIM:604189 skos:exactMatch HGNC_symbol:DNAJC4 Unspecified DNAJC4 +OMIM:604189 skos:exactMatch UMLS:C1415792 Unspecified DNAJC4 +OMIM:604188 skos:exactMatch UMLS:C1419940 Unspecified SELENBP1 +OMIM:604188 skos:exactMatch HGNC:10719 Unspecified SELENBP1 +OMIM:604188 skos:exactMatch HGNC_symbol:SELENBP1 Unspecified SELENBP1 +OMIM:616150 skos:exactMatch HGNC:30451 Unspecified SLC25A48 +OMIM:616150 skos:exactMatch HGNC_symbol:SLC25A48 Unspecified SLC25A48 +OMIM:616150 skos:exactMatch UMLS:C3146464 Unspecified SLC25A48 +OMIM:212060 skos:exactMatch UMLS:C1859352 Unspecified carbimazole sensitivity +OMIM:616151 skos:exactMatch UMLS:C4015342 Unspecified macular dystrophy, vitelliform, 4 +OMIM:616152 skos:exactMatch UMLS:C4015343 Unspecified macular dystrophy, vitelliform, 5 +OMIM:616153 skos:exactMatch UMLS:C3469821 Unspecified SLC25A52 +OMIM:616153 skos:exactMatch HGNC_symbol:SLC25A52 Unspecified SLC25A52 +OMIM:616153 skos:exactMatch HGNC:23324 Unspecified SLC25A52 +OMIM:616154 skos:exactMatch UMLS:C4015344 Unspecified peroxisomal fatty acyl-coa reductase 1 disorder +OMIM:263630 skos:exactMatch UMLS:C1849719 Unspecified polysyndactyly with cardiac malformation +OMIM:616155 skos:exactMatch UMLS:C4015349 Unspecified charcot-marie-tooth disease, axonal, iia 2s +OMIM:616156 skos:exactMatch HGNC:25531 Unspecified FAR2 +OMIM:616156 skos:exactMatch HGNC_symbol:FAR2 Unspecified FAR2 +OMIM:616156 skos:exactMatch UMLS:C1428496 Unspecified FAR2 +OMIM:616157 skos:exactMatch HGNC_symbol:DHRS13 Unspecified DHRS13 +OMIM:616157 skos:exactMatch HGNC:28326 Unspecified DHRS13 +OMIM:616157 skos:exactMatch UMLS:C1824933 Unspecified DHRS13 +OMIM:616158 skos:exactMatch UMLS:C4015357 Unspecified neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties +OMIM:616159 skos:exactMatch HGNC:28639 Unspecified DHRS11 +OMIM:616159 skos:exactMatch UMLS:C2681414 Unspecified DHRS11 +OMIM:616159 skos:exactMatch HGNC_symbol:DHRS11 Unspecified DHRS11 +OMIM:616149 skos:exactMatch UMLS:C1822746 Unspecified SLC25A36 +OMIM:616149 skos:exactMatch HGNC_symbol:SLC25A36 Unspecified SLC25A36 +OMIM:616149 skos:exactMatch HGNC:25554 Unspecified SLC25A36 +OMIM:604170 skos:exactMatch UMLS:C1418659 Unspecified PLSCR1 +OMIM:604170 skos:exactMatch HGNC:9092 Unspecified PLSCR1 +OMIM:604170 skos:exactMatch HGNC_symbol:PLSCR1 Unspecified PLSCR1 +OMIM:604172 skos:exactMatch UMLS:C1858724 Unspecified caronte +OMIM:604171 skos:exactMatch UMLS:C1425988 Unspecified ALYREF +OMIM:604171 skos:exactMatch HGNC:19071 Unspecified ALYREF +OMIM:604171 skos:exactMatch HGNC_symbol:ALYREF Unspecified ALYREF +OMIM:604174 skos:exactMatch HGNC_symbol:RPL15 Unspecified RPL15 +OMIM:604174 skos:exactMatch UMLS:C1419632 Unspecified RPL15 +OMIM:604174 skos:exactMatch HGNC:10306 Unspecified RPL15 +OMIM:604174 skos:exactMatch UMLS:C3809888 Unspecified RPL15 +OMIM:236000 skos:exactMatch UMLS:C0019829 Unspecified lymphoma, hodgkin, classic +OMIM:604173 skos:exactMatch UMLS:C1858723 Unspecified poikiloderma with neutropenia +OMIM:604173 skos:exactMatch ORPHA:221046 Unspecified poikiloderma with neutropenia +OMIM:604176 skos:exactMatch HGNC:19391 Unspecified SOCS3 +OMIM:604176 skos:exactMatch HGNC_symbol:SOCS3 Unspecified SOCS3 +OMIM:604176 skos:exactMatch UMLS:C1426212 Unspecified SOCS3 +OMIM:604175 skos:exactMatch HGNC_symbol:RPL11 Unspecified RPL11 +OMIM:604175 skos:exactMatch UMLS:C1419628 Unspecified RPL11 +OMIM:604175 skos:exactMatch HGNC:10301 Unspecified RPL11 +OMIM:604178 skos:exactMatch UMLS:C1419636 Unspecified RPL18A +OMIM:604178 skos:exactMatch HGNC_symbol:RPL18A Unspecified RPL18A +OMIM:604178 skos:exactMatch HGNC:10311 Unspecified RPL18A +OMIM:604177 skos:exactMatch UMLS:C1335640 Unspecified RPL8 +OMIM:604177 skos:exactMatch HGNC_symbol:RPL8 Unspecified RPL8 +OMIM:604177 skos:exactMatch HGNC:10368 Unspecified RPL8 +OMIM:604179 skos:exactMatch HGNC_symbol:RPL18 Unspecified RPL18 +OMIM:604179 skos:exactMatch UMLS:C1419635 Unspecified RPL18 +OMIM:604179 skos:exactMatch HGNC:10310 Unspecified RPL18 +OMIM:212070 skos:exactMatch UMLS:C0398782 Unspecified carboxypeptidase n deficiency +OMIM:604159 skos:exactMatch HGNC_symbol:SLC6A5 Unspecified SLC6A5 +OMIM:604159 skos:exactMatch HGNC:11051 Unspecified SLC6A5 +OMIM:604159 skos:exactMatch UMLS:C1420215 Unspecified SLC6A5 +OMIM:300971 skos:exactMatch UMLS:C4310820 Unspecified bartter syndrome, iia 5, antenatal, transient +OMIM:300971 skos:exactMatch ORPHA:112 Unspecified bartter syndrome, iia 5, antenatal, transient +OMIM:300971 skos:exactMatch ORPHA:93604 Unspecified bartter syndrome, iia 5, antenatal, transient +OMIM:300970 skos:exactMatch HGNC:23485 Unspecified MORC4 +OMIM:300970 skos:exactMatch UMLS:C1826268 Unspecified MORC4 +OMIM:300970 skos:exactMatch HGNC_symbol:MORC4 Unspecified MORC4 +OMIM:300973 skos:exactMatch HGNC_symbol:RHOXF1P1 Unspecified RHOXF1P1 +OMIM:300973 skos:exactMatch UMLS:C4085623 Unspecified RHOXF1P1 +OMIM:300973 skos:exactMatch HGNC:51580 Unspecified RHOXF1P1 +OMIM:300972 skos:exactMatch UMLS:C4310819 Unspecified immunodeficiency 47 +OMIM:616140 skos:exactMatch UMLS:C4015323 Unspecified leukodystrophy, hypomyelinating, 9 +OMIM:616141 skos:exactMatch HGNC:14453 Unspecified H2AFY2 +OMIM:616141 skos:exactMatch UMLS:C1422661 Unspecified H2AFY2 +OMIM:616141 skos:exactMatch HGNC_symbol:MACROH2A2 Unspecified H2AFY2 +OMIM:300975 skos:exactMatch HGNC:13486 Unspecified USP27X +OMIM:300975 skos:exactMatch UMLS:C1422016 Unspecified USP27X +OMIM:300975 skos:exactMatch HGNC_symbol:USP27X Unspecified USP27X +OMIM:300974 skos:exactMatch HGNC:23148 Unspecified PLCXD1 +OMIM:300974 skos:exactMatch UMLS:C1538665 Unspecified PLCXD1 +OMIM:300974 skos:exactMatch HGNC_symbol:PLCXD1 Unspecified PLCXD1 +OMIM:616142 skos:exactMatch HGNC:26773 Unspecified FAM98B +OMIM:616142 skos:exactMatch HGNC_symbol:FAM98B Unspecified FAM98B +OMIM:616142 skos:exactMatch UMLS:C1825218 Unspecified FAM98B +OMIM:616143 skos:exactMatch HGNC_symbol:LYPLA2 Unspecified LYPLA2 +OMIM:616143 skos:exactMatch HGNC:6738 Unspecified LYPLA2 +OMIM:616143 skos:exactMatch UMLS:C1416944 Unspecified LYPLA2 +OMIM:300977 skos:exactMatch UMLS:C1866985 Unspecified scholte syndrome +OMIM:616144 skos:exactMatch UMLS:C1823837 Unspecified WDR73 +OMIM:616144 skos:exactMatch HGNC:25928 Unspecified WDR73 +OMIM:616144 skos:exactMatch HGNC_symbol:WDR73 Unspecified WDR73 +OMIM:300976 skos:exactMatch UMLS:C1539446 Unspecified FAM46D +OMIM:300976 skos:exactMatch HGNC_symbol:TENT5D Unspecified FAM46D +OMIM:300976 skos:exactMatch HGNC:28399 Unspecified FAM46D +OMIM:616145 skos:exactMatch UMLS:C1844887 Unspecified catel-manzke syndrome +OMIM:300979 skos:exactMatch UMLS:C4311049 Unspecified chromosome xq25 duplication syndrome +OMIM:300979 skos:exactMatch UMLS:C4310830 Unspecified chromosome xq25 duplication syndrome +OMIM:616146 skos:exactMatch HGNC_symbol:TGDS Unspecified TGDS +OMIM:616146 skos:exactMatch UMLS:C1426860 Unspecified TGDS +OMIM:616146 skos:exactMatch HGNC:20324 Unspecified TGDS +OMIM:300978 skos:exactMatch UMLS:C4283894 Unspecified tonne-kalscheuer syndrome +OMIM:616147 skos:exactMatch HGNC:14434 Unspecified CDK15 +OMIM:616147 skos:exactMatch HGNC_symbol:CDK15 Unspecified CDK15 +OMIM:616147 skos:exactMatch UMLS:C2239810 Unspecified CDK15 +OMIM:616148 skos:exactMatch HGNC_symbol:TRIM59 Unspecified TRIM59 +OMIM:616148 skos:exactMatch UMLS:C4017673 Unspecified TRIM59 +OMIM:616148 skos:exactMatch HGNC:30834 Unspecified TRIM59 +OMIM:616148 skos:exactMatch UMLS:C1540063 Unspecified TRIM59 +OMIM:616138 skos:exactMatch UMLS:C4015307 Unspecified perrault syndrome 5 +OMIM:616139 skos:exactMatch ORPHA:3451 Unspecified developmental and epileptic encephalopathy 27 +OMIM:616139 skos:exactMatch UMLS:C4015316 Unspecified developmental and epileptic encephalopathy 27 +OMIM:604161 skos:exactMatch UMLS:C1333695 Unspecified KISS1R +OMIM:604161 skos:exactMatch HGNC:4510 Unspecified KISS1R +OMIM:604161 skos:exactMatch HGNC_symbol:KISS1R Unspecified KISS1R +OMIM:604160 skos:exactMatch HGNC:6163 Unspecified ITGB8 +OMIM:604160 skos:exactMatch UMLS:C1416504 Unspecified ITGB8 +OMIM:604160 skos:exactMatch HGNC_symbol:ITGB8 Unspecified ITGB8 +OMIM:604163 skos:exactMatch HGNC_symbol:RPL3 Unspecified RPL3 +OMIM:604163 skos:exactMatch UMLS:C1419655 Unspecified RPL3 +OMIM:604163 skos:exactMatch HGNC:10332 Unspecified RPL3 +OMIM:212067 skos:exactMatch UMLS:C0349655 Unspecified congenital disorder of glycosylation, iia i/iix +OMIM:212066 skos:exactMatch ORPHA:79329 Unspecified congenital disorder of glycosylation, iia iia +OMIM:212066 skos:exactMatch UMLS:C2931008 Unspecified congenital disorder of glycosylation, iia iia +OMIM:212065 skos:exactMatch ORPHA:79318 Unspecified congenital disorder of glycosylation, iia ia +OMIM:212065 skos:exactMatch UMLS:C0349653 Unspecified congenital disorder of glycosylation, iia ia +OMIM:604165 skos:exactMatch HGNC_symbol:SLC25A11 Unspecified SLC25A11 +OMIM:604165 skos:exactMatch UMLS:C1420152 Unspecified SLC25A11 +OMIM:604165 skos:exactMatch HGNC:10981 Unspecified SLC25A11 +OMIM:604164 skos:exactMatch HGNC_symbol:ONECUT1 Unspecified ONECUT1 +OMIM:604164 skos:exactMatch UMLS:C1417951 Unspecified ONECUT1 +OMIM:604164 skos:exactMatch HGNC:8138 Unspecified ONECUT1 +OMIM:604167 skos:exactMatch HGNC:13723 Unspecified CTCF +OMIM:604167 skos:exactMatch HGNC_symbol:CTCF Unspecified CTCF +OMIM:604167 skos:exactMatch UMLS:C1422163 Unspecified CTCF +OMIM:604167 skos:exactMatch UMLS:C3809686 Unspecified CTCF +OMIM:604166 skos:exactMatch UMLS:C1419686 Unspecified RPL7 +OMIM:604166 skos:exactMatch HGNC_symbol:RPL7 Unspecified RPL7 +OMIM:604166 skos:exactMatch HGNC:10363 Unspecified RPL7 +OMIM:604169 skos:exactMatch UMLS:C1858725 Unspecified left ventricular noncompaction 1 +OMIM:604168 skos:exactMatch UMLS:C1858726 Unspecified congenital cataracts, facial dysmorphism, and neuropathy +OMIM:604149 skos:exactMatch HGNC:10808 Unspecified SGCE +OMIM:604149 skos:exactMatch HGNC_symbol:SGCE Unspecified SGCE +OMIM:604149 skos:exactMatch UMLS:C1420008 Unspecified SGCE +OMIM:604148 skos:exactMatch HGNC:10917 Unspecified SLC13A2 +OMIM:604148 skos:exactMatch HGNC_symbol:SLC13A2 Unspecified SLC13A2 +OMIM:604148 skos:exactMatch UMLS:C1420097 Unspecified SLC13A2 +OMIM:212080 skos:exactMatch UMLS:C1859332 Unspecified cardiac lipidosis, familial +OMIM:300980 skos:exactMatch UMLS:C1537495 Unspecified KLHL15 +OMIM:300980 skos:exactMatch HGNC_symbol:KLHL15 Unspecified KLHL15 +OMIM:300980 skos:exactMatch HGNC:29347 Unspecified KLHL15 +OMIM:300982 skos:exactMatch UMLS:C4310818 Unspecified intellectual developmental disorder, X-linked 103 +OMIM:300981 skos:exactMatch HGNC_symbol:VCX3B Unspecified VCX3B +OMIM:300981 skos:exactMatch UMLS:C1540176 Unspecified VCX3B +OMIM:300981 skos:exactMatch HGNC:31838 Unspecified VCX3B +OMIM:300984 skos:exactMatch UMLS:C4310816 Unspecified intellectual developmental disorder, X-linked 105 +OMIM:618791 skos:exactMatch HGNC_symbol:KCTD6 Unspecified KCTD6 +OMIM:618791 skos:exactMatch HGNC:22235 Unspecified KCTD6 +OMIM:618791 skos:exactMatch UMLS:C1427766 Unspecified KCTD6 +OMIM:618790 skos:exactMatch HGNC:27452 Unspecified KCTD21 +OMIM:618790 skos:exactMatch HGNC_symbol:KCTD21 Unspecified KCTD21 +OMIM:618790 skos:exactMatch UMLS:C1825647 Unspecified KCTD21 +OMIM:300983 skos:exactMatch UMLS:C4310817 Unspecified intellectual developmental disorder, X-linked 104 +OMIM:616130 skos:exactMatch HGNC_symbol:LURAP1L Unspecified LURAP1L +OMIM:616130 skos:exactMatch HGNC:31452 Unspecified LURAP1L +OMIM:616130 skos:exactMatch UMLS:C1538365 Unspecified LURAP1L +OMIM:300986 skos:exactMatch UMLS:C4310814 Unspecified intellectual developmental disorder, x-linked, syndromic, bain iia +OMIM:618793 skos:exactMatch UMLS:C5394083 Unspecified intellectual developmental disorder, autosomal dominant 62 +OMIM:310300 skos:exactMatch UMLS:C0751337 Unspecified emery-dreifuss muscular dystrophy 1, X-linked +OMIM:618792 skos:exactMatch UMLS:C5394081 Unspecified developmental and epileptic encephalopathy 84 +OMIM:300985 skos:exactMatch UMLS:C4310815 Unspecified vas deferens, congenital bilateral aplasia of, X-linked +OMIM:263610 skos:exactMatch UMLS:C1849720 Unspecified polyhydramnios, chronic idiopathic +OMIM:616131 skos:exactMatch UMLS:C3889224 Unspecified GACAT2 +OMIM:616131 skos:exactMatch HGNC_symbol:GACAT2 Unspecified GACAT2 +OMIM:616131 skos:exactMatch HGNC:50516 Unspecified GACAT2 +OMIM:616132 skos:exactMatch HGNC:50847 Unspecified GACAT3 +OMIM:616132 skos:exactMatch UMLS:C3889223 Unspecified GACAT3 +OMIM:616132 skos:exactMatch HGNC_symbol:GACAT3 Unspecified GACAT3 +OMIM:300988 skos:exactMatch UMLS:C4310812 Unspecified immunodeficiency 50 +OMIM:618795 skos:exactMatch UMLS:C3495559 Unspecified juvenile arthritis +OMIM:618795 skos:exactMatch ORPHA:85414 Unspecified juvenile arthritis +OMIM:616133 skos:exactMatch HGNC:28177 Unspecified MPV17L2 +OMIM:616133 skos:exactMatch UMLS:C2681838 Unspecified MPV17L2 +OMIM:616133 skos:exactMatch HGNC_symbol:MPV17L2 Unspecified MPV17L2 +OMIM:618794 skos:exactMatch HGNC_symbol:KBTBD11 Unspecified KBTBD11 +OMIM:618794 skos:exactMatch UMLS:C1825643 Unspecified KBTBD11 +OMIM:618794 skos:exactMatch HGNC:29104 Unspecified KBTBD11 +OMIM:616134 skos:exactMatch UMLS:C2829556 Unspecified H3F3C +OMIM:616134 skos:exactMatch HGNC:33164 Unspecified H3F3C +OMIM:616134 skos:exactMatch HGNC_symbol:H3-5 Unspecified H3F3C +OMIM:618797 skos:exactMatch UMLS:C5394091 Unspecified neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation +OMIM:616135 skos:exactMatch HGNC:13328 Unspecified IFIT5 +OMIM:616135 skos:exactMatch UMLS:C1421940 Unspecified IFIT5 +OMIM:616135 skos:exactMatch HGNC_symbol:IFIT5 Unspecified IFIT5 +OMIM:618796 skos:exactMatch HGNC:30179 Unspecified SAC3D1 +OMIM:618796 skos:exactMatch UMLS:C1539720 Unspecified SAC3D1 +OMIM:618796 skos:exactMatch HGNC_symbol:SAC3D1 Unspecified SAC3D1 +OMIM:300989 skos:exactMatch UMLS:C4310811 Unspecified meester-loeys syndrome +OMIM:618799 skos:exactMatch UMLS:C1824527 Unspecified CAPSL +OMIM:618799 skos:exactMatch HGNC:28375 Unspecified CAPSL +OMIM:618799 skos:exactMatch HGNC_symbol:CAPSL Unspecified CAPSL +OMIM:616136 skos:exactMatch UMLS:C1823780 Unspecified RNF220 +OMIM:616136 skos:exactMatch HGNC:25552 Unspecified RNF220 +OMIM:616136 skos:exactMatch HGNC_symbol:RNF220 Unspecified RNF220 +OMIM:616137 skos:exactMatch HGNC_symbol:MIR873 Unspecified MIR873 +OMIM:616137 skos:exactMatch HGNC:33663 Unspecified MIR873 +OMIM:616137 skos:exactMatch UMLS:C2239709 Unspecified MIR873 +OMIM:618798 skos:exactMatch UMLS:C5394097 Unspecified beck-fahrner syndrome +OMIM:616127 skos:exactMatch UMLS:C4015301 Unspecified spinocerebellar ataxia, autosomal recessive 17 +OMIM:616128 skos:exactMatch UMLS:C1825181 Unspecified FAM89B +OMIM:616128 skos:exactMatch HGNC:16708 Unspecified FAM89B +OMIM:616128 skos:exactMatch HGNC_symbol:FAM89B Unspecified FAM89B +OMIM:618789 skos:exactMatch UMLS:C1824690 Unspecified CDV3 +OMIM:618789 skos:exactMatch HGNC_symbol:CDV3 Unspecified CDV3 +OMIM:618789 skos:exactMatch HGNC:26928 Unspecified CDV3 +OMIM:616129 skos:exactMatch HGNC:32327 Unspecified LURAP1 +OMIM:616129 skos:exactMatch HGNC_symbol:LURAP1 Unspecified LURAP1 +OMIM:616129 skos:exactMatch UMLS:C3470921 Unspecified LURAP1 +OMIM:224050 skos:exactMatch UMLS:C4551552 Unspecified cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 +OMIM:604150 skos:exactMatch HGNC_symbol:POLR2J Unspecified POLR2J +OMIM:604150 skos:exactMatch UMLS:C1418748 Unspecified POLR2J +OMIM:604150 skos:exactMatch HGNC:9197 Unspecified POLR2J +OMIM:248000 skos:exactMatch UMLS:C3806412 Unspecified macrocephaly/megalencephaly syndrome, autosomal recessive +OMIM:604152 skos:exactMatch HGNC_symbol:OAZ2 Unspecified OAZ2 +OMIM:604152 skos:exactMatch UMLS:C1417922 Unspecified OAZ2 +OMIM:604152 skos:exactMatch HGNC:8096 Unspecified OAZ2 +OMIM:604151 skos:exactMatch HGNC_symbol:UBE2E3 Unspecified UBE2E3 +OMIM:604151 skos:exactMatch HGNC:12479 Unspecified UBE2E3 +OMIM:604151 skos:exactMatch UMLS:C1421278 Unspecified UBE2E3 +OMIM:604154 skos:exactMatch UMLS:C1858751 Unspecified alzheimer disease 15 +OMIM:604153 skos:exactMatch UMLS:C1538474 Unspecified NMUR1 +OMIM:604153 skos:exactMatch HGNC:4518 Unspecified NMUR1 +OMIM:604153 skos:exactMatch HGNC_symbol:NMUR1 Unspecified NMUR1 +OMIM:604156 skos:exactMatch HGNC_symbol:SFRP1 Unspecified SFRP1 +OMIM:604156 skos:exactMatch UMLS:C1419986 Unspecified SFRP1 +OMIM:604156 skos:exactMatch HGNC:10776 Unspecified SFRP1 +OMIM:604155 skos:exactMatch HGNC:6508 Unspecified LANCL1 +OMIM:604155 skos:exactMatch UMLS:C1416795 Unspecified LANCL1 +OMIM:604155 skos:exactMatch HGNC_symbol:LANCL1 Unspecified LANCL1 +OMIM:604158 skos:exactMatch HGNC_symbol:SFRP5 Unspecified SFRP5 +OMIM:604158 skos:exactMatch UMLS:C1419988 Unspecified SFRP5 +OMIM:604158 skos:exactMatch HGNC:10779 Unspecified SFRP5 +OMIM:604157 skos:exactMatch HGNC_symbol:SFRP2 Unspecified SFRP2 +OMIM:604157 skos:exactMatch UMLS:C1419987 Unspecified SFRP2 +OMIM:604157 skos:exactMatch HGNC:10777 Unspecified SFRP2 +OMIM:226650 skos:exactMatch UMLS:C2673609 Unspecified epidermolysis bullosa, junctional 1a, intermediate +OMIM:226650 skos:exactMatch UMLS:C2673610 Unspecified epidermolysis bullosa, junctional 1a, intermediate +OMIM:226650 skos:exactMatch UMLS:C2608084 Unspecified epidermolysis bullosa, junctional 1a, intermediate +OMIM:226650 skos:exactMatch UMLS:C0268374 Unspecified epidermolysis bullosa, junctional 1a, intermediate +OMIM:226650 skos:exactMatch UMLS:C0079301 Unspecified epidermolysis bullosa, junctional 1a, intermediate +OMIM:263600 skos:exactMatch UMLS:C1849721 Unspecified polysaccharide, storage of unusual +OMIM:616190 skos:exactMatch UMLS:C2681537 Unspecified CMTR2 +OMIM:616190 skos:exactMatch HGNC:25635 Unspecified CMTR2 +OMIM:616190 skos:exactMatch HGNC_symbol:CMTR2 Unspecified CMTR2 +OMIM:616191 skos:exactMatch UMLS:C1428379 Unspecified DLGAP4 +OMIM:616191 skos:exactMatch HGNC_symbol:DLGAP4 Unspecified DLGAP4 +OMIM:616191 skos:exactMatch UMLS:C4017675 Unspecified DLGAP4 +OMIM:616191 skos:exactMatch UMLS:C4017674 Unspecified DLGAP4 +OMIM:616191 skos:exactMatch HGNC:24476 Unspecified DLGAP4 +OMIM:616192 skos:exactMatch UMLS:C4015436 Unspecified ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus +OMIM:616193 skos:exactMatch UMLS:C4015444 Unspecified intellectual developmental disorder, autosomal recessive 47 +OMIM:616194 skos:exactMatch HGNC_symbol:UTP15 Unspecified UTP15 +OMIM:616194 skos:exactMatch UMLS:C1823610 Unspecified UTP15 +OMIM:616194 skos:exactMatch HGNC:25758 Unspecified UTP15 +OMIM:616195 skos:exactMatch HGNC:28945 Unspecified WDR43 +OMIM:616195 skos:exactMatch UMLS:C1538086 Unspecified WDR43 +OMIM:616195 skos:exactMatch HGNC_symbol:WDR43 Unspecified WDR43 +OMIM:616196 skos:exactMatch HGNC_symbol:DCAF13 Unspecified DCAF13 +OMIM:616196 skos:exactMatch UMLS:C1823851 Unspecified DCAF13 +OMIM:616196 skos:exactMatch HGNC:24535 Unspecified DCAF13 +OMIM:616197 skos:exactMatch UMLS:C1826451 Unspecified NOL10 +OMIM:616197 skos:exactMatch HGNC_symbol:NOL10 Unspecified NOL10 +OMIM:616197 skos:exactMatch HGNC:25862 Unspecified NOL10 +OMIM:616198 skos:exactMatch UMLS:C4015447 Unspecified combined oxidative phosphorylation deficiency 23 +OMIM:131850 skos:exactMatch ORPHA:79410 Unspecified epidermolysis bullosa dystrophica, pretibial +OMIM:131850 skos:exactMatch UMLS:C0432321 Unspecified epidermolysis bullosa dystrophica, pretibial +OMIM:616199 skos:exactMatch UMLS:C4015452 Unspecified polyglucosan body myopathy 2 +OMIM:616180 skos:exactMatch UMLS:C1825385 Unspecified GOLGA8A +OMIM:616180 skos:exactMatch HGNC:31972 Unspecified GOLGA8A +OMIM:616180 skos:exactMatch HGNC_symbol:GOLGA8A Unspecified GOLGA8A +OMIM:616181 skos:exactMatch HGNC:22043 Unspecified ZNF713 +OMIM:616181 skos:exactMatch UMLS:C1824016 Unspecified ZNF713 +OMIM:616181 skos:exactMatch HGNC_symbol:ZNF713 Unspecified ZNF713 +OMIM:616181 skos:exactMatch UMLS:C1414783 Unspecified ZNF713 +OMIM:616182 skos:exactMatch UMLS:C0274294 Unspecified chronic mountain sickness, susceptibility to +OMIM:616183 skos:exactMatch HGNC:28128 Unspecified TMEM107 +OMIM:616183 skos:exactMatch UMLS:C1823369 Unspecified TMEM107 +OMIM:616183 skos:exactMatch HGNC_symbol:TMEM107 Unspecified TMEM107 +OMIM:616184 skos:exactMatch HGNC:29094 Unspecified CLUH +OMIM:616184 skos:exactMatch UMLS:C1825669 Unspecified CLUH +OMIM:616184 skos:exactMatch HGNC_symbol:CLUH Unspecified CLUH +OMIM:616185 skos:exactMatch UMLS:C4015409 Unspecified ovarian dysgenesis 4 +OMIM:616186 skos:exactMatch UMLS:C1415847 Unspecified None +OMIM:616187 skos:exactMatch UMLS:C4015420 Unspecified epilepsy, progressive myoclonic 7 +OMIM:616188 skos:exactMatch UMLS:C4015424 Unspecified retinal dystrophy and obesity +OMIM:616189 skos:exactMatch UMLS:C2681538 Unspecified CMTR1 +OMIM:616189 skos:exactMatch HGNC_symbol:CMTR1 Unspecified CMTR1 +OMIM:616189 skos:exactMatch HGNC:21077 Unspecified CMTR1 +OMIM:616170 skos:exactMatch UMLS:C4015371 Unspecified macular dystrophy with central cone involvement +OMIM:167800 skos:exactMatch UMLS:C0238339 Unspecified pancreatitis, hereditary +OMIM:167800 skos:exactMatch ORPHA:676 Unspecified pancreatitis, hereditary +OMIM:616171 skos:exactMatch UMLS:C4015388 Unspecified microcephaly and chorioretinopathy, autosomal recessive, 2 +OMIM:616172 skos:exactMatch UMLS:C4015395 Unspecified generalized epilepsy with febrile seizures plus, iia 9 +OMIM:616173 skos:exactMatch UMLS:C1824579 Unspecified NSRP1 +OMIM:616173 skos:exactMatch HGNC_symbol:NSRP1 Unspecified NSRP1 +OMIM:616173 skos:exactMatch HGNC:25305 Unspecified NSRP1 +OMIM:616174 skos:exactMatch UMLS:C1824739 Unspecified CKAP2L +OMIM:616174 skos:exactMatch HGNC_symbol:CKAP2L Unspecified CKAP2L +OMIM:616174 skos:exactMatch HGNC:26877 Unspecified CKAP2L +OMIM:616175 skos:exactMatch HGNC:17598 Unspecified UBE2J1 +OMIM:616175 skos:exactMatch UMLS:C1425009 Unspecified UBE2J1 +OMIM:616175 skos:exactMatch HGNC_symbol:UBE2J1 Unspecified UBE2J1 +OMIM:616176 skos:exactMatch UMLS:C4015405 Unspecified bleeding disorder, platelet-type, 19 +OMIM:616177 skos:exactMatch HGNC_symbol:DDRGK1 Unspecified DDRGK1 +OMIM:616177 skos:exactMatch UMLS:C1423991 Unspecified DDRGK1 +OMIM:616177 skos:exactMatch HGNC:16110 Unspecified DDRGK1 +OMIM:224000 skos:exactMatch UMLS:C1857153 Unspecified dysautonomia-like disorder +OMIM:616178 skos:exactMatch HGNC:26991 Unspecified TMEM132E +OMIM:616178 skos:exactMatch UMLS:C4760579 Unspecified TMEM132E +OMIM:616178 skos:exactMatch HGNC_symbol:TMEM132E Unspecified TMEM132E +OMIM:616178 skos:exactMatch UMLS:C1823395 Unspecified TMEM132E +OMIM:616179 skos:exactMatch UMLS:C2240135 Unspecified TXNDC16 +OMIM:616179 skos:exactMatch HGNC:19965 Unspecified TXNDC16 +OMIM:616179 skos:exactMatch HGNC_symbol:TXNDC16 Unspecified TXNDC16 +OMIM:604190 skos:exactMatch UMLS:C1420139 Unspecified SLC22A4 +OMIM:604190 skos:exactMatch HGNC:10968 Unspecified SLC22A4 +OMIM:604190 skos:exactMatch HGNC_symbol:SLC22A4 Unspecified SLC22A4 +OMIM:226670 skos:exactMatch UMLS:C2931072 Unspecified epidermolysis bullosa simplex 5b, with muscular dystrophy +OMIM:604191 skos:exactMatch UMLS:C1421750 Unspecified ZNF263 +OMIM:604191 skos:exactMatch HGNC_symbol:ZNF263 Unspecified ZNF263 +OMIM:604191 skos:exactMatch HGNC:13056 Unspecified ZNF263 +OMIM:604194 skos:exactMatch HGNC_symbol:SLC27A4 Unspecified SLC27A4 +OMIM:604194 skos:exactMatch UMLS:C1420166 Unspecified SLC27A4 +OMIM:604194 skos:exactMatch HGNC:10998 Unspecified SLC27A4 +OMIM:604193 skos:exactMatch HGNC_symbol:SLC27A3 Unspecified SLC27A3 +OMIM:604193 skos:exactMatch UMLS:C1420165 Unspecified SLC27A3 +OMIM:604193 skos:exactMatch HGNC:10997 Unspecified SLC27A3 +OMIM:604196 skos:exactMatch HGNC:11000 Unspecified SLC27A6 +OMIM:604196 skos:exactMatch HGNC_symbol:SLC27A6 Unspecified SLC27A6 +OMIM:604196 skos:exactMatch UMLS:C1420168 Unspecified SLC27A6 +OMIM:143850 skos:exactMatch UMLS:C1840438 Unspecified orthostatic hypotensive disorder, streeten iia +OMIM:604198 skos:exactMatch HGNC:9761 Unspecified RAB11B +OMIM:604198 skos:exactMatch HGNC_symbol:RAB11B Unspecified RAB11B +OMIM:604198 skos:exactMatch UMLS:C1419190 Unspecified RAB11B +OMIM:604197 skos:exactMatch UMLS:C1417423 Unspecified MTHFS +OMIM:604197 skos:exactMatch HGNC:7437 Unspecified MTHFS +OMIM:604197 skos:exactMatch HGNC_symbol:MTHFS Unspecified MTHFS +OMIM:604199 skos:exactMatch UMLS:C1419203 Unspecified RAB35 +OMIM:604199 skos:exactMatch HGNC_symbol:RAB35 Unspecified RAB35 +OMIM:604199 skos:exactMatch HGNC:9774 Unspecified RAB35 +OMIM:251600 skos:exactMatch UMLS:C1855052 Unspecified microphthalmia, isolated 1 +OMIM:167805 skos:exactMatch HGNC:8601 Unspecified REG3A +OMIM:167805 skos:exactMatch HGNC_symbol:REG3A Unspecified REG3A +OMIM:167805 skos:exactMatch UMLS:C1538823 Unspecified REG3A +OMIM:131880 skos:exactMatch UMLS:C1851570 Unspecified epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase +OMIM:300911 skos:exactMatch UMLS:C3806722 Unspecified parkinsonism with spasticity, X-linked +OMIM:300910 skos:exactMatch UMLS:C3806712 Unspecified bone mineral density quantitative trait locus 18 +OMIM:300913 skos:exactMatch HGNC:22082 Unspecified VMA21 +OMIM:300913 skos:exactMatch HGNC_symbol:VMA21 Unspecified VMA21 +OMIM:300913 skos:exactMatch UMLS:C2681112 Unspecified VMA21 +OMIM:300912 skos:exactMatch UMLS:C3806730 Unspecified intellectual developmental disorder, X-linked 98 +OMIM:300915 skos:exactMatch UMLS:C3806742 Unspecified microphthalmia, syndromic 13 +OMIM:300914 skos:exactMatch UMLS:C3806737 Unspecified deafness, X-linked 6 +OMIM:300917 skos:exactMatch HGNC_symbol:PNMA6A Unspecified PNMA6A +OMIM:300917 skos:exactMatch UMLS:C1538685 Unspecified PNMA6A +OMIM:300917 skos:exactMatch HGNC:28248 Unspecified PNMA6A +OMIM:300916 skos:exactMatch HGNC:18743 Unspecified PNMA5 +OMIM:300916 skos:exactMatch HGNC_symbol:PNMA5 Unspecified PNMA5 +OMIM:300916 skos:exactMatch UMLS:C1425752 Unspecified PNMA5 +OMIM:300919 skos:exactMatch UMLS:C3806746 Unspecified intellectual developmental disorder, X-linked 99 +OMIM:300918 skos:exactMatch UMLS:C3806745 Unspecified olmsted syndrome, X-linked +OMIM:143860 skos:exactMatch UMLS:C1840437 Unspecified hyperchlorhidrosis, isolated +OMIM:141200 skos:exactMatch UMLS:C0241908 Unspecified hematuria, benign familial +OMIM:141200 skos:exactMatch UMLS:C0403440 Unspecified hematuria, benign familial +OMIM:192800 skos:exactMatch UMLS:C1860464 Unspecified vertebral fusion, posterior lumbosacral, with blepharoptosis +OMIM:300920 skos:exactMatch HGNC:24173 Unspecified ATXN3L +OMIM:300920 skos:exactMatch HGNC_symbol:ATXN3L Unspecified ATXN3L +OMIM:300920 skos:exactMatch UMLS:C1538302 Unspecified ATXN3L +OMIM:300922 skos:exactMatch HGNC_symbol:CHIC1 Unspecified CHIC1 +OMIM:300922 skos:exactMatch UMLS:C1413389 Unspecified CHIC1 +OMIM:300922 skos:exactMatch HGNC:1934 Unspecified CHIC1 +OMIM:300921 skos:exactMatch HGNC:29353 Unspecified BHLHB9 +OMIM:300921 skos:exactMatch UMLS:C1538323 Unspecified BHLHB9 +OMIM:300921 skos:exactMatch HGNC_symbol:BHLHB9 Unspecified BHLHB9 +OMIM:300924 skos:exactMatch HGNC_symbol:AWAT1 Unspecified AWAT1 +OMIM:300924 skos:exactMatch UMLS:C2681179 Unspecified AWAT1 +OMIM:300924 skos:exactMatch HGNC:23252 Unspecified AWAT1 +OMIM:300923 skos:exactMatch UMLS:C3890167 Unspecified intellectual developmental disorder, X-linked 100 +OMIM:226600 skos:exactMatch UMLS:C0079474 Unspecified epidermolysis bullosa dystrophica, autosomal recessive +OMIM:226600 skos:exactMatch UMLS:C2673612 Unspecified epidermolysis bullosa dystrophica, autosomal recessive +OMIM:226600 skos:exactMatch UMLS:C2673611 Unspecified epidermolysis bullosa dystrophica, autosomal recessive +OMIM:300926 skos:exactMatch HGNC:23250 Unspecified DGAT2L6 +OMIM:300926 skos:exactMatch HGNC_symbol:DGAT2L6 Unspecified DGAT2L6 +OMIM:300926 skos:exactMatch UMLS:C1824928 Unspecified DGAT2L6 +OMIM:202650 skos:exactMatch UMLS:C0265242 Unspecified agnathia-otocephaly complex +OMIM:300925 skos:exactMatch HGNC_symbol:AWAT2 Unspecified AWAT2 +OMIM:300925 skos:exactMatch UMLS:C1539289 Unspecified AWAT2 +OMIM:300925 skos:exactMatch HGNC:23251 Unspecified AWAT2 +OMIM:300928 skos:exactMatch UMLS:C3890168 Unspecified intellectual developmental disorder, X-linked 101 +OMIM:300927 skos:exactMatch HGNC:17169 Unspecified PRDX4 +OMIM:300927 skos:exactMatch UMLS:C1424792 Unspecified PRDX4 +OMIM:300927 skos:exactMatch HGNC_symbol:PRDX4 Unspecified PRDX4 +OMIM:300929 skos:exactMatch HGNC_symbol:MIR718 Unspecified MIR718 +OMIM:300929 skos:exactMatch HGNC:37317 Unspecified MIR718 +OMIM:300929 skos:exactMatch UMLS:C2829676 Unspecified MIR718 +OMIM:179800 skos:exactMatch UMLS:C1704380 Unspecified renal tubular acidosis, distal, 1 +OMIM:179800 skos:exactMatch ORPHA:18 Unspecified renal tubular acidosis, distal, 1 +OMIM:179800 skos:exactMatch ORPHA:93608 Unspecified renal tubular acidosis, distal, 1 +OMIM:143870 skos:exactMatch UMLS:C0342639 Unspecified hypercalciuria, absorptive, 2 +OMIM:167850 skos:exactMatch UMLS:C1868652 Unspecified pancytopenia and occlusive vascular disease +OMIM:202660 skos:exactMatch UMLS:C1859967 Unspecified pagod syndrome +OMIM:179837 skos:exactMatch HGNC_symbol:RPA3 Unspecified RPA3 +OMIM:179837 skos:exactMatch UMLS:C1419620 Unspecified RPA3 +OMIM:179837 skos:exactMatch HGNC:10291 Unspecified RPA3 +OMIM:179838 skos:exactMatch HGNC:10461 Unspecified CLIP1 +OMIM:179838 skos:exactMatch UMLS:C1824746 Unspecified CLIP1 +OMIM:179838 skos:exactMatch HGNC_symbol:CLIP1 Unspecified CLIP1 +OMIM:179835 skos:exactMatch HGNC:10289 Unspecified RPA1 +OMIM:179835 skos:exactMatch HGNC_symbol:RPA1 Unspecified RPA1 +OMIM:179835 skos:exactMatch UMLS:C1419618 Unspecified RPA1 +OMIM:179836 skos:exactMatch HGNC:10290 Unspecified RPA2 +OMIM:179836 skos:exactMatch HGNC_symbol:RPA2 Unspecified RPA2 +OMIM:179836 skos:exactMatch UMLS:C1419619 Unspecified RPA2 +OMIM:143880 skos:exactMatch UMLS:C4310232 Unspecified hypercalcemia, infantile, 1 +OMIM:153200 skos:exactMatch UMLS:C4746631 Unspecified lymphatic malformation 5 +OMIM:179830 skos:exactMatch UMLS:C0268435 Unspecified renal tubular acidosis, proximal +OMIM:300902 skos:exactMatch UMLS:C1419682 Unspecified RPL36A +OMIM:300902 skos:exactMatch HGNC_symbol:RPL36A Unspecified RPL36A +OMIM:300902 skos:exactMatch HGNC:10359 Unspecified RPL36A +OMIM:300901 skos:exactMatch UMLS:C3542508 Unspecified XACT +OMIM:300901 skos:exactMatch HGNC:45056 Unspecified XACT +OMIM:300901 skos:exactMatch HGNC_symbol:XACT Unspecified XACT +OMIM:300904 skos:exactMatch HGNC_symbol:IRS4 Unspecified IRS4 +OMIM:300904 skos:exactMatch UMLS:C1334142 Unspecified IRS4 +OMIM:300904 skos:exactMatch HGNC:6128 Unspecified IRS4 +OMIM:300903 skos:exactMatch UMLS:C1539610 Unspecified GPR174 +OMIM:300903 skos:exactMatch HGNC_symbol:GPR174 Unspecified GPR174 +OMIM:300903 skos:exactMatch HGNC:30245 Unspecified GPR174 +OMIM:300906 skos:exactMatch HGNC_symbol:PDK3 Unspecified PDK3 +OMIM:300906 skos:exactMatch UMLS:C1418442 Unspecified PDK3 +OMIM:300906 skos:exactMatch HGNC:8811 Unspecified PDK3 +OMIM:300905 skos:exactMatch UMLS:C3806702 Unspecified charcot-marie-tooth disease, X-linked dominant, 6 +OMIM:300908 skos:exactMatch UMLS:C2720289 Unspecified anemia, nonspherocytic hemolytic, due to g6pd deficiency +OMIM:300907 skos:exactMatch HGNC_symbol:CSTF2 Unspecified CSTF2 +OMIM:300907 skos:exactMatch HGNC:2484 Unspecified CSTF2 +OMIM:300907 skos:exactMatch UMLS:C1413780 Unspecified CSTF2 +OMIM:143890 skos:exactMatch UMLS:C3276941 Unspecified hypercholesterolemia, familial, 1 +OMIM:143890 skos:exactMatch ORPHA:391665 Unspecified hypercholesterolemia, familial, 1 +OMIM:143890 skos:exactMatch UMLS:C0745103 Unspecified hypercholesterolemia, familial, 1 +OMIM:300909 skos:exactMatch UMLS:C3806711 Unspecified angioedema induced by ace inhibitors, susceptibility to +OMIM:179820 skos:exactMatch HGNC:9958 Unspecified REN +OMIM:179820 skos:exactMatch HGNC_symbol:REN Unspecified REN +OMIM:179820 skos:exactMatch UMLS:C1419338 Unspecified REN +OMIM:180800 skos:exactMatch UMLS:C0205713 Unspecified roussy-levy hereditary areflexic dystasia +OMIM:180800 skos:exactMatch ORPHA:3115 Unspecified roussy-levy hereditary areflexic dystasia +OMIM:238600 skos:exactMatch UMLS:C1969232 Unspecified hyperlipoproteinemia, iia 1 +OMIM:238600 skos:exactMatch UMLS:C0023817 Unspecified hyperlipoproteinemia, iia 1 +OMIM:155770 skos:exactMatch UMLS:C1835040 Unspecified melanoma tumor antigen gp90 +OMIM:167755 skos:exactMatch UMLS:C1868659 Unspecified pancreas, dorsal, agenesis of +OMIM:167750 skos:exactMatch UMLS:C0149955 Unspecified pancreas, annular +OMIM:202600 skos:exactMatch UMLS:C1859969 Unspecified agenesis of cerebral white matter +OMIM:153100 skos:exactMatch ORPHA:79452 Unspecified lymphatic malformation 1 +OMIM:153100 skos:exactMatch UMLS:C1704423 Unspecified lymphatic malformation 1 +OMIM:180730 skos:exactMatch UMLS:C1867147 Unspecified rombo syndrome +OMIM:179730 skos:exactMatch UMLS:C1419393 Unspecified RLN1 +OMIM:179730 skos:exactMatch HGNC_symbol:RLN1 Unspecified RLN1 +OMIM:179730 skos:exactMatch HGNC:10026 Unspecified RLN1 +OMIM:155760 skos:exactMatch HGNC_symbol:ACAN Unspecified ACAN +OMIM:155760 skos:exactMatch UMLS:C1412277 Unspecified ACAN +OMIM:155760 skos:exactMatch HGNC:319 Unspecified ACAN +OMIM:180740 skos:exactMatch UMLS:C1420282 Unspecified SNRNP70 +OMIM:180740 skos:exactMatch HGNC_symbol:SNRNP70 Unspecified SNRNP70 +OMIM:180740 skos:exactMatch HGNC:11150 Unspecified SNRNP70 +OMIM:128260 skos:exactMatch UMLS:C1420292 Unspecified SNRPE +OMIM:128260 skos:exactMatch HGNC_symbol:SNRPE Unspecified SNRPE +OMIM:128260 skos:exactMatch HGNC:11161 Unspecified SNRPE +OMIM:167771 skos:exactMatch UMLS:C1419334 Unspecified REG1B +OMIM:167771 skos:exactMatch HGNC_symbol:REG1B Unspecified REG1B +OMIM:167771 skos:exactMatch HGNC:9952 Unspecified REG1B +OMIM:165110 skos:exactMatch HGNC_symbol:SEA Unspecified SEA +OMIM:165110 skos:exactMatch UMLS:C1419919 Unspecified SEA +OMIM:167770 skos:exactMatch UMLS:C1419333 Unspecified REG1A +OMIM:167770 skos:exactMatch HGNC_symbol:REG1A Unspecified REG1A +OMIM:167770 skos:exactMatch HGNC:9951 Unspecified REG1A +OMIM:179755 skos:exactMatch UMLS:C1418872 Unspecified PRCC +OMIM:179755 skos:exactMatch UMLS:C1867338 Unspecified PRCC +OMIM:179755 skos:exactMatch HGNC_symbol:PRCC Unspecified PRCC +OMIM:179755 skos:exactMatch HGNC:9343 Unspecified PRCC +OMIM:180710 skos:exactMatch UMLS:C1822902 Unspecified SNORD3A +OMIM:180710 skos:exactMatch HGNC_symbol:SNORD3A Unspecified SNORD3A +OMIM:180710 skos:exactMatch HGNC:33189 Unspecified SNORD3A +OMIM:104290 skos:exactMatch UMLS:C3549447 Unspecified alternating hemiplegia of childhood 1 +OMIM:192700 skos:exactMatch UMLS:C1860465 Unspecified venular insufficiency, systemic +OMIM:128240 skos:exactMatch HGNC:12635 Unspecified UTRN +OMIM:128240 skos:exactMatch UMLS:C1421412 Unspecified UTRN +OMIM:128240 skos:exactMatch HGNC_symbol:UTRN Unspecified UTRN +OMIM:128239 skos:exactMatch UMLS:C1413902 Unspecified DAG1 +OMIM:128239 skos:exactMatch UMLS:C3151184 Unspecified DAG1 +OMIM:128239 skos:exactMatch UMLS:C4225291 Unspecified DAG1 +OMIM:128239 skos:exactMatch HGNC_symbol:DAG1 Unspecified DAG1 +OMIM:128239 skos:exactMatch HGNC:2666 Unspecified DAG1 +OMIM:128235 skos:exactMatch UMLS:C1868681 Unspecified dystonia 12 +OMIM:180721 skos:exactMatch UMLS:C1419600 Unspecified ROM1 +OMIM:180721 skos:exactMatch HGNC_symbol:ROM1 Unspecified ROM1 +OMIM:180721 skos:exactMatch HGNC:10254 Unspecified ROM1 +OMIM:179740 skos:exactMatch HGNC_symbol:RLN2 Unspecified RLN2 +OMIM:179740 skos:exactMatch UMLS:C1419394 Unspecified RLN2 +OMIM:179740 skos:exactMatch HGNC:10027 Unspecified RLN2 +OMIM:104260 skos:exactMatch UMLS:C1332029 Unspecified ADRA2B +OMIM:104260 skos:exactMatch HGNC:282 Unspecified ADRA2B +OMIM:104260 skos:exactMatch HGNC_symbol:ADRA2B Unspecified ADRA2B +OMIM:189100 skos:exactMatch UMLS:C1861061 Unspecified toe, misshapen +OMIM:128230 skos:exactMatch UMLS:C1851920 Unspecified dystonia, dopa-responsive +OMIM:128230 skos:exactMatch ORPHA:98808 Unspecified dystonia, dopa-responsive +OMIM:167790 skos:exactMatch UMLS:C0812377 Unspecified SPINK1 +OMIM:167790 skos:exactMatch HGNC_symbol:SPINK1 Unspecified SPINK1 +OMIM:167790 skos:exactMatch HGNC:11244 Unspecified SPINK1 +OMIM:165120 skos:exactMatch HGNC:6735 Unspecified LYN +OMIM:165120 skos:exactMatch UMLS:C0812307 Unspecified LYN +OMIM:165120 skos:exactMatch HGNC_symbol:LYN Unspecified LYN +OMIM:167780 skos:exactMatch UMLS:C1418856 Unspecified PPY +OMIM:167780 skos:exactMatch HGNC:9327 Unspecified PPY +OMIM:167780 skos:exactMatch HGNC_symbol:PPY Unspecified PPY +OMIM:190100 skos:exactMatch UMLS:C1860972 Unspecified geniospasm 1 +OMIM:177100 skos:exactMatch UMLS:C1867499 Unspecified pruritus, hereditary localized +OMIM:180750 skos:exactMatch UMLS:C1867146 Unspecified robinow-sorauf syndrome +OMIM:104240 skos:exactMatch UMLS:C1539862 Unspecified ST3GAL4 +OMIM:104240 skos:exactMatch HGNC_symbol:ST3GAL4 Unspecified ST3GAL4 +OMIM:104240 skos:exactMatch HGNC:10864 Unspecified ST3GAL4 +OMIM:118888 skos:exactMatch HGNC:2524 Unspecified CTRL +OMIM:118888 skos:exactMatch UMLS:C1413809 Unspecified CTRL +OMIM:118888 skos:exactMatch HGNC_symbol:CTRL Unspecified CTRL +OMIM:165150 skos:exactMatch UMLS:C1833835 Unspecified ophthalmoplegia, progressive, with scrotal tongue and mental deficiency +OMIM:141180 skos:exactMatch HGNC:4862 Unspecified NCKAP1L +OMIM:141180 skos:exactMatch HGNC_symbol:NCKAP1L Unspecified NCKAP1L +OMIM:141180 skos:exactMatch UMLS:C1826388 Unspecified NCKAP1L +OMIM:141180 skos:exactMatch UMLS:C5436540 Unspecified NCKAP1L +OMIM:118890 skos:exactMatch UMLS:C1413806 Unspecified CTRB1 +OMIM:118890 skos:exactMatch HGNC_symbol:CTRB1 Unspecified CTRB1 +OMIM:118890 skos:exactMatch HGNC:2521 Unspecified CTRB1 +OMIM:128200 skos:exactMatch UMLS:C4552000 Unspecified episodic kinesigenic dyskinesia 1 +OMIM:104250 skos:exactMatch UMLS:C1412261 Unspecified ADRA2C +OMIM:104250 skos:exactMatch UMLS:C2676080 Unspecified ADRA2C +OMIM:104250 skos:exactMatch HGNC:283 Unspecified ADRA2C +OMIM:104250 skos:exactMatch HGNC_symbol:ADRA2C Unspecified ADRA2C +OMIM:165140 skos:exactMatch UMLS:C0812285 Unspecified PVT1 +OMIM:165140 skos:exactMatch HGNC_symbol:PVT1 Unspecified PVT1 +OMIM:165140 skos:exactMatch HGNC:9709 Unspecified PVT1 +OMIM:118880 skos:exactMatch UMLS:C1861557 Unspecified NHCP2 +OMIM:179780 skos:exactMatch HGNC:3002 Unspecified DPEP1 +OMIM:179780 skos:exactMatch UMLS:C1414134 Unspecified DPEP1 +OMIM:179780 skos:exactMatch HGNC_symbol:DPEP1 Unspecified DPEP1 +OMIM:606713 skos:exactMatch UMLS:C1847604 Unspecified van der woude syndrome 2 +OMIM:606714 skos:exactMatch HGNC_symbol:PNRC1 Unspecified PNRC1 +OMIM:606714 skos:exactMatch UMLS:C1424869 Unspecified PNRC1 +OMIM:606714 skos:exactMatch HGNC:17278 Unspecified PNRC1 +OMIM:606711 skos:exactMatch UMLS:C1847614 Unspecified specific language impairment 1 +OMIM:606712 skos:exactMatch UMLS:C1847605 Unspecified specific language impairment 2 +OMIM:606717 skos:exactMatch HGNC_symbol:XAF1 Unspecified XAF1 +OMIM:606717 skos:exactMatch HGNC:30932 Unspecified XAF1 +OMIM:606717 skos:exactMatch UMLS:C1337027 Unspecified XAF1 +OMIM:606718 skos:exactMatch HGNC:10994 Unspecified SLC26A2 +OMIM:606718 skos:exactMatch HGNC_symbol:SLC26A2 Unspecified SLC26A2 +OMIM:606718 skos:exactMatch UMLS:C1420162 Unspecified SLC26A2 +OMIM:606715 skos:exactMatch UMLS:C1427464 Unspecified ASIC4 +OMIM:606715 skos:exactMatch HGNC:21263 Unspecified ASIC4 +OMIM:606715 skos:exactMatch HGNC_symbol:ASIC4 Unspecified ASIC4 +OMIM:606716 skos:exactMatch UMLS:C1425280 Unspecified NAT8 +OMIM:606716 skos:exactMatch HGNC_symbol:NAT8 Unspecified NAT8 +OMIM:606716 skos:exactMatch HGNC:18069 Unspecified NAT8 +OMIM:116200 skos:exactMatch UMLS:C1861828 Unspecified cataract 1, multiple types +OMIM:606719 skos:exactMatch UMLS:C1838547 Unspecified melanoma-pancreatic cancer syndrome +OMIM:118865 skos:exactMatch UMLS:C1861558 Unspecified choroidal osteoma, bilateral +OMIM:618700 skos:exactMatch UMLS:C4085168 Unspecified CPHXL +OMIM:618700 skos:exactMatch HGNC_symbol:CPHXL Unspecified CPHXL +OMIM:618700 skos:exactMatch HGNC:51815 Unspecified CPHXL +OMIM:310350 skos:exactMatch UMLS:C1839650 Unspecified myelolymphatic insufficiency +OMIM:165180 skos:exactMatch HGNC:6899 Unspecified MAS1 +OMIM:165180 skos:exactMatch HGNC_symbol:MAS1 Unspecified MAS1 +OMIM:165180 skos:exactMatch UMLS:C0812372 Unspecified MAS1 +OMIM:104219 skos:exactMatch HGNC:280 Unspecified ADRA1D +OMIM:104219 skos:exactMatch HGNC_symbol:ADRA1D Unspecified ADRA1D +OMIM:104219 skos:exactMatch UMLS:C1412260 Unspecified ADRA1D +OMIM:189150 skos:exactMatch UMLS:C1861060 Unspecified toe, rotated fifth +OMIM:118870 skos:exactMatch UMLS:C1417720 Unspecified NHCP1 +OMIM:104210 skos:exactMatch HGNC:281 Unspecified ADRA2A +OMIM:104210 skos:exactMatch HGNC_symbol:ADRA2A Unspecified ADRA2A +OMIM:104210 skos:exactMatch UMLS:C1332028 Unspecified ADRA2A +OMIM:606720 skos:exactMatch UMLS:C1847590 Unspecified ENDOU +OMIM:606720 skos:exactMatch HGNC:14369 Unspecified ENDOU +OMIM:606720 skos:exactMatch HGNC_symbol:ENDOU Unspecified ENDOU +OMIM:606721 skos:exactMatch UMLS:C3807567 Unspecified lipodystrophy, familial partial, iia 7 +OMIM:606702 skos:exactMatch HGNC:9016 Unspecified PKHD1 +OMIM:606702 skos:exactMatch HGNC_symbol:PKHD1 Unspecified PKHD1 +OMIM:606702 skos:exactMatch UMLS:C1418605 Unspecified PKHD1 +OMIM:606703 skos:exactMatch UMLS:C1847627 Unspecified dyskinesia with orofacial involvement, autosomal dominant +OMIM:606700 skos:exactMatch UMLS:C1424166 Unspecified MIDN +OMIM:606700 skos:exactMatch HGNC:16298 Unspecified MIDN +OMIM:606700 skos:exactMatch HGNC_symbol:MIDN Unspecified MIDN +OMIM:606701 skos:exactMatch UMLS:C1427595 Unspecified DRGX +OMIM:606701 skos:exactMatch HGNC_symbol:DRGX Unspecified DRGX +OMIM:606701 skos:exactMatch HGNC:21536 Unspecified DRGX +OMIM:606706 skos:exactMatch HGNC:16513 Unspecified TMC1 +OMIM:606706 skos:exactMatch HGNC_symbol:TMC1 Unspecified TMC1 +OMIM:606706 skos:exactMatch UMLS:C1424345 Unspecified TMC1 +OMIM:606707 skos:exactMatch HGNC:16527 Unspecified TMC2 +OMIM:606707 skos:exactMatch HGNC_symbol:TMC2 Unspecified TMC2 +OMIM:606707 skos:exactMatch UMLS:C1424355 Unspecified TMC2 +OMIM:606704 skos:exactMatch UMLS:C1415257 Unspecified GPR75 +OMIM:606704 skos:exactMatch HGNC_symbol:GPR75 Unspecified GPR75 +OMIM:606704 skos:exactMatch HGNC:4526 Unspecified GPR75 +OMIM:104230 skos:exactMatch UMLS:C1414865 Unspecified FUT4 +OMIM:104230 skos:exactMatch HGNC_symbol:FUT4 Unspecified FUT4 +OMIM:104230 skos:exactMatch HGNC:4015 Unspecified FUT4 +OMIM:606705 skos:exactMatch UMLS:C1847626 Unspecified deafness, autosomal dominant 36 +OMIM:118850 skos:exactMatch HGNC_symbol:CGA Unspecified CGA +OMIM:118850 skos:exactMatch HGNC:1885 Unspecified CGA +OMIM:118850 skos:exactMatch UMLS:C1413366 Unspecified CGA +OMIM:606708 skos:exactMatch UMLS:C1847622 Unspecified split-hand/foot malformation 5 +OMIM:606709 skos:exactMatch UMLS:C1418967 Unspecified PRSS12 +OMIM:606709 skos:exactMatch HGNC:9477 Unspecified PRSS12 +OMIM:606709 skos:exactMatch HGNC_symbol:PRSS12 Unspecified PRSS12 +OMIM:165162 skos:exactMatch HGNC:6206 Unspecified JUND +OMIM:165162 skos:exactMatch HGNC_symbol:JUND Unspecified JUND +OMIM:165162 skos:exactMatch UMLS:C0812312 Unspecified JUND +OMIM:165160 skos:exactMatch HGNC_symbol:JUN Unspecified JUN +OMIM:165160 skos:exactMatch HGNC:6204 Unspecified JUN +OMIM:165160 skos:exactMatch UMLS:C0162508 Unspecified JUN +OMIM:165161 skos:exactMatch HGNC:6205 Unspecified JUNB +OMIM:165161 skos:exactMatch HGNC_symbol:JUNB Unspecified JUNB +OMIM:165161 skos:exactMatch UMLS:C0812313 Unspecified JUNB +OMIM:310370 skos:exactMatch UMLS:C0751778 Unspecified myoclonic epilepsy, progressive +OMIM:165170 skos:exactMatch UMLS:C0919490 Unspecified SPI1 +OMIM:165170 skos:exactMatch HGNC_symbol:SPI1 Unspecified SPI1 +OMIM:165170 skos:exactMatch HGNC:11241 Unspecified SPI1 +OMIM:118860 skos:exactMatch HGNC_symbol:CGB3 Unspecified CGB +OMIM:118860 skos:exactMatch HGNC:1886 Unspecified CGB +OMIM:118860 skos:exactMatch UMLS:C1413367 Unspecified CGB +OMIM:104221 skos:exactMatch HGNC_symbol:ADRA1A Unspecified ADRA1A +OMIM:104221 skos:exactMatch UMLS:C1332026 Unspecified ADRA1A +OMIM:104221 skos:exactMatch HGNC:277 Unspecified ADRA1A +OMIM:104220 skos:exactMatch HGNC_symbol:ADRA1B Unspecified ADRA1B +OMIM:104220 skos:exactMatch UMLS:C1332027 Unspecified ADRA1B +OMIM:104220 skos:exactMatch HGNC:278 Unspecified ADRA1B +OMIM:104225 skos:exactMatch HGNC_symbol:LRPAP1 Unspecified LRPAP1 +OMIM:104225 skos:exactMatch UMLS:C1416920 Unspecified LRPAP1 +OMIM:104225 skos:exactMatch HGNC:6701 Unspecified LRPAP1 +OMIM:606710 skos:exactMatch UMLS:C1847620 Unspecified LHFPL6 +OMIM:606710 skos:exactMatch HGNC:6586 Unspecified LHFPL6 +OMIM:606710 skos:exactMatch HGNC_symbol:LHFPL6 Unspecified LHFPL6 +OMIM:606710 skos:exactMatch UMLS:C1416844 Unspecified LHFPL6 +OMIM:118840 skos:exactMatch UMLS:C1861559 Unspecified chromate resistance +OMIM:165199 skos:exactMatch UMLS:C1833831 Unspecified optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant +OMIM:165195 skos:exactMatch HGNC:8153 Unspecified OPRD1 +OMIM:165195 skos:exactMatch HGNC_symbol:OPRD1 Unspecified OPRD1 +OMIM:165195 skos:exactMatch UMLS:C1417962 Unspecified OPRD1 +OMIM:165196 skos:exactMatch HGNC:8154 Unspecified OPRK1 +OMIM:165196 skos:exactMatch HGNC_symbol:OPRK1 Unspecified OPRK1 +OMIM:165196 skos:exactMatch UMLS:C1417963 Unspecified OPRK1 +OMIM:309350 skos:exactMatch UMLS:C0025237 Unspecified melnick-needles syndrome +OMIM:177170 skos:exactMatch UMLS:C0410538 Unspecified pseudoachondroplasia +OMIM:118830 skos:exactMatch UMLS:C1861560 Unspecified chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase +OMIM:165190 skos:exactMatch UMLS:C0919508 Unspecified FGF5 +OMIM:165190 skos:exactMatch HGNC_symbol:FGF5 Unspecified FGF5 +OMIM:165190 skos:exactMatch HGNC:3683 Unspecified FGF5 +OMIM:275595 skos:exactMatch UMLS:C1848743 Unspecified trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet +OMIM:190120 skos:exactMatch HGNC_symbol:THRA Unspecified THRA +OMIM:190120 skos:exactMatch UMLS:C0242987 Unspecified THRA +OMIM:190120 skos:exactMatch HGNC:11796 Unspecified THRA +OMIM:104200 skos:exactMatch UMLS:C4746547 Unspecified alport syndrome 3, autosomal dominant +OMIM:606757 skos:exactMatch HGNC:18168 Unspecified SLC4A5 +OMIM:606757 skos:exactMatch HGNC_symbol:SLC4A5 Unspecified SLC4A5 +OMIM:606757 skos:exactMatch UMLS:C1425358 Unspecified SLC4A5 +OMIM:606758 skos:exactMatch HGNC:3062 Unspecified DUOX1 +OMIM:606758 skos:exactMatch HGNC_symbol:DUOX1 Unspecified DUOX1 +OMIM:606758 skos:exactMatch UMLS:C1414179 Unspecified DUOX1 +OMIM:118825 skos:exactMatch HGNC:1941 Unspecified CHML +OMIM:118825 skos:exactMatch HGNC_symbol:CHML Unspecified CHML +OMIM:118825 skos:exactMatch UMLS:C1413395 Unspecified CHML +OMIM:606755 skos:exactMatch HGNC_symbol:PADI3 Unspecified PADI3 +OMIM:606755 skos:exactMatch HGNC:18337 Unspecified PADI3 +OMIM:606755 skos:exactMatch UMLS:C1425457 Unspecified PADI3 +OMIM:606756 skos:exactMatch HGNC:5215 Unspecified HSD17B7 +OMIM:606756 skos:exactMatch UMLS:C1333927 Unspecified HSD17B7 +OMIM:606756 skos:exactMatch HGNC_symbol:HSD17B7 Unspecified HSD17B7 +OMIM:606759 skos:exactMatch HGNC:13273 Unspecified DUOX2 +OMIM:606759 skos:exactMatch HGNC_symbol:DUOX2 Unspecified DUOX2 +OMIM:606759 skos:exactMatch UMLS:C1421916 Unspecified DUOX2 +OMIM:118820 skos:exactMatch HGNC:2441 Unspecified CSH2 +OMIM:118820 skos:exactMatch UMLS:C1413753 Unspecified CSH2 +OMIM:118820 skos:exactMatch HGNC_symbol:CSH2 Unspecified CSH2 +OMIM:618740 skos:exactMatch HGNC:34454 Unspecified CCDC154 +OMIM:618740 skos:exactMatch HGNC_symbol:CCDC154 Unspecified CCDC154 +OMIM:618740 skos:exactMatch UMLS:C2681330 Unspecified CCDC154 +OMIM:618742 skos:exactMatch UMLS:C1428355 Unspecified ZBTB8A +OMIM:618742 skos:exactMatch HGNC_symbol:ZBTB8A Unspecified ZBTB8A +OMIM:618742 skos:exactMatch HGNC:24172 Unspecified ZBTB8A +OMIM:618741 skos:exactMatch UMLS:C5394027 Unspecified neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy +OMIM:618744 skos:exactMatch UMLS:C5231487 Unspecified developmental and epileptic encephalopathy 83 +OMIM:618743 skos:exactMatch HGNC_symbol:PLPP7 Unspecified PLPP7 +OMIM:618743 skos:exactMatch UMLS:C1826651 Unspecified PLPP7 +OMIM:618743 skos:exactMatch HGNC:28174 Unspecified PLPP7 +OMIM:618735 skos:exactMatch HGNC_symbol:TTC29 Unspecified TTC29 +OMIM:618735 skos:exactMatch UMLS:C5231488 Unspecified TTC29 +OMIM:618735 skos:exactMatch HGNC:29936 Unspecified TTC29 +OMIM:618735 skos:exactMatch UMLS:C1823533 Unspecified TTC29 +OMIM:190170 skos:exactMatch HGNC:11765 Unspecified TGFA +OMIM:190170 skos:exactMatch UMLS:C1336620 Unspecified TGFA +OMIM:190170 skos:exactMatch HGNC_symbol:TGFA Unspecified TGFA +OMIM:618734 skos:exactMatch UMLS:C5231484 Unspecified aneurysm, intracranial berry, 12 +OMIM:618734 skos:exactMatch ORPHA:231160 Unspecified aneurysm, intracranial berry, 12 +OMIM:618737 skos:exactMatch UMLS:C5231486 Unspecified pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures +OMIM:618736 skos:exactMatch UMLS:C5231485 Unspecified structural brain anomalies with impaired intellectual development and craniosynostosis +OMIM:618739 skos:exactMatch HGNC:26936 Unspecified CTDSPL2 +OMIM:618739 skos:exactMatch HGNC_symbol:CTDSPL2 Unspecified CTDSPL2 +OMIM:618739 skos:exactMatch UMLS:C1824809 Unspecified CTDSPL2 +OMIM:618738 skos:exactMatch HGNC_symbol:TTLL4 Unspecified TTLL4 +OMIM:618738 skos:exactMatch HGNC:28976 Unspecified TTLL4 +OMIM:606761 skos:exactMatch UMLS:C0342793 Unspecified MLYCD +OMIM:606761 skos:exactMatch HGNC_symbol:MLYCD Unspecified MLYCD +OMIM:606761 skos:exactMatch HGNC:7150 Unspecified MLYCD +OMIM:606761 skos:exactMatch UMLS:C1417196 Unspecified MLYCD +OMIM:606764 skos:exactMatch UMLS:C0238198 Unspecified gastrointestinal stromal tumor +OMIM:604101 skos:exactMatch HGNC:4599 Unspecified GRM7 +OMIM:604101 skos:exactMatch HGNC_symbol:GRM7 Unspecified GRM7 +OMIM:604101 skos:exactMatch UMLS:C1415309 Unspecified GRM7 +OMIM:604101 skos:exactMatch UMLS:C5394517 Unspecified GRM7 +OMIM:606765 skos:exactMatch UMLS:C1364508 Unspecified TPO +OMIM:606765 skos:exactMatch HGNC:12015 Unspecified TPO +OMIM:606765 skos:exactMatch HGNC_symbol:TPO Unspecified TPO +OMIM:604100 skos:exactMatch HGNC:4596 Unspecified GRM4 +OMIM:604100 skos:exactMatch HGNC_symbol:GRM4 Unspecified GRM4 +OMIM:604100 skos:exactMatch UMLS:C1415308 Unspecified GRM4 +OMIM:604103 skos:exactMatch UMLS:C1826332 Unspecified MYOT +OMIM:604103 skos:exactMatch HGNC:12399 Unspecified MYOT +OMIM:604103 skos:exactMatch HGNC_symbol:MYOT Unspecified MYOT +OMIM:606762 skos:exactMatch UMLS:C1847555 Unspecified hyperinsulinemic hypoglycemia, familial, 6 +OMIM:604102 skos:exactMatch HGNC:4597 Unspecified GRM5 +OMIM:604102 skos:exactMatch HGNC_symbol:GRM5 Unspecified GRM5 +OMIM:604102 skos:exactMatch UMLS:C1333712 Unspecified GRM5 +OMIM:606763 skos:exactMatch UMLS:C1847554 Unspecified ciliary dyskinesia, primary, 2 +OMIM:606746 skos:exactMatch UMLS:C1424658 Unspecified MYDGF +OMIM:606746 skos:exactMatch HGNC_symbol:MYDGF Unspecified MYDGF +OMIM:606746 skos:exactMatch HGNC:16948 Unspecified MYDGF +OMIM:606747 skos:exactMatch HGNC_symbol:VEZF1 Unspecified VEZF1 +OMIM:606747 skos:exactMatch HGNC:12949 Unspecified VEZF1 +OMIM:606747 skos:exactMatch UMLS:C1823628 Unspecified VEZF1 +OMIM:606744 skos:exactMatch UMLS:C1847572 Unspecified seckel syndrome 2 +OMIM:606745 skos:exactMatch UMLS:C1423939 Unspecified PARD3 +OMIM:606745 skos:exactMatch HGNC:16051 Unspecified PARD3 +OMIM:606745 skos:exactMatch HGNC_symbol:PARD3 Unspecified PARD3 +OMIM:606748 skos:exactMatch UMLS:C1425434 Unspecified COTL1 +OMIM:606748 skos:exactMatch HGNC_symbol:COTL1 Unspecified COTL1 +OMIM:606748 skos:exactMatch HGNC:18304 Unspecified COTL1 +OMIM:606749 skos:exactMatch HGNC:14599 Unspecified TINAG +OMIM:606749 skos:exactMatch UMLS:C1422780 Unspecified TINAG +OMIM:606749 skos:exactMatch HGNC_symbol:TINAG Unspecified TINAG +OMIM:618731 skos:exactMatch UMLS:C5231481 Unspecified neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +OMIM:618730 skos:exactMatch UMLS:C5231480 Unspecified neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity +OMIM:618733 skos:exactMatch UMLS:C5231483 Unspecified neuromuscular oculoauditory syndrome +OMIM:618732 skos:exactMatch UMLS:C5231482 Unspecified poirier-bienvenu neurodevelopmental syndrome +OMIM:190180 skos:exactMatch UMLS:C0011989 Unspecified TGFB1 +OMIM:190180 skos:exactMatch UMLS:C4748708 Unspecified TGFB1 +OMIM:190180 skos:exactMatch UMLS:C1366557 Unspecified TGFB1 +OMIM:190180 skos:exactMatch HGNC_symbol:TGFB1 Unspecified TGFB1 +OMIM:190180 skos:exactMatch UMLS:C1968974 Unspecified TGFB1 +OMIM:190180 skos:exactMatch UMLS:C4016407 Unspecified TGFB1 +OMIM:190180 skos:exactMatch HGNC:11766 Unspecified TGFB1 +OMIM:618724 skos:exactMatch UMLS:C5231475 Unspecified heyn-sproul-jackson syndrome +OMIM:190181 skos:exactMatch HGNC_symbol:TGFBR1 Unspecified TGFBR1 +OMIM:190181 skos:exactMatch UMLS:C1336624 Unspecified TGFBR1 +OMIM:190181 skos:exactMatch HGNC:11772 Unspecified TGFBR1 +OMIM:618723 skos:exactMatch UMLS:C5231474 Unspecified premature ovarian failure 16 +OMIM:618723 skos:exactMatch ORPHA:243 Unspecified premature ovarian failure 16 +OMIM:618726 skos:exactMatch UMLS:C5394063 Unspecified NEK10 +OMIM:618726 skos:exactMatch UMLS:C1425630 Unspecified NEK10 +OMIM:618726 skos:exactMatch HGNC_symbol:NEK10 Unspecified NEK10 +OMIM:618726 skos:exactMatch HGNC:18592 Unspecified NEK10 +OMIM:618725 skos:exactMatch UMLS:C5231476 Unspecified intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures +OMIM:618728 skos:exactMatch UMLS:C5231478 Unspecified spondyloepimetaphyseal dysplasia, isidor-toutain iia +OMIM:618727 skos:exactMatch UMLS:C5231477 Unspecified ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies +OMIM:618729 skos:exactMatch UMLS:C5231479 Unspecified liang-wang syndrome +OMIM:606750 skos:exactMatch HGNC:16176 Unspecified ZBP1 +OMIM:606750 skos:exactMatch HGNC_symbol:ZBP1 Unspecified ZBP1 +OMIM:606750 skos:exactMatch UMLS:C1424053 Unspecified ZBP1 +OMIM:606753 skos:exactMatch UMLS:C1421215 Unspecified TTC4 +OMIM:606753 skos:exactMatch HGNC:12394 Unspecified TTC4 +OMIM:606753 skos:exactMatch HGNC_symbol:TTC4 Unspecified TTC4 +OMIM:606754 skos:exactMatch UMLS:C1423837 Unspecified SAMHD1 +OMIM:606754 skos:exactMatch HGNC_symbol:SAMHD1 Unspecified SAMHD1 +OMIM:606754 skos:exactMatch HGNC:15925 Unspecified SAMHD1 +OMIM:190182 skos:exactMatch HGNC_symbol:TGFBR2 Unspecified TGFBR2 +OMIM:190182 skos:exactMatch UMLS:C0919538 Unspecified TGFBR2 +OMIM:190182 skos:exactMatch HGNC:11773 Unspecified TGFBR2 +OMIM:606751 skos:exactMatch HGNC_symbol:TMPRSS5 Unspecified TMPRSS5 +OMIM:606751 skos:exactMatch HGNC:14908 Unspecified TMPRSS5 +OMIM:606751 skos:exactMatch UMLS:C1423044 Unspecified TMPRSS5 +OMIM:606752 skos:exactMatch UMLS:C0014077 Unspecified acute hemorrhagic leukoencephalitis +OMIM:606735 skos:exactMatch UMLS:C1424238 Unspecified OSBPL7 +OMIM:606735 skos:exactMatch HGNC_symbol:OSBPL7 Unspecified OSBPL7 +OMIM:606735 skos:exactMatch HGNC:16387 Unspecified OSBPL7 +OMIM:606736 skos:exactMatch UMLS:C1424247 Unspecified OSBPL8 +OMIM:606736 skos:exactMatch HGNC_symbol:OSBPL8 Unspecified OSBPL8 +OMIM:606736 skos:exactMatch HGNC:16396 Unspecified OSBPL8 +OMIM:606733 skos:exactMatch UMLS:C1424243 Unspecified OSBPL5 +OMIM:606733 skos:exactMatch HGNC_symbol:OSBPL5 Unspecified OSBPL5 +OMIM:606733 skos:exactMatch HGNC:16392 Unspecified OSBPL5 +OMIM:606734 skos:exactMatch UMLS:C1424239 Unspecified OSBPL6 +OMIM:606734 skos:exactMatch HGNC_symbol:OSBPL6 Unspecified OSBPL6 +OMIM:606734 skos:exactMatch HGNC:16388 Unspecified OSBPL6 +OMIM:606739 skos:exactMatch UMLS:C1424248 Unspecified OSBPL11 +OMIM:606739 skos:exactMatch HGNC_symbol:OSBPL11 Unspecified OSBPL11 +OMIM:606739 skos:exactMatch HGNC:16397 Unspecified OSBPL11 +OMIM:606737 skos:exactMatch UMLS:C1424237 Unspecified OSBPL9 +OMIM:606737 skos:exactMatch HGNC_symbol:OSBPL9 Unspecified OSBPL9 +OMIM:606737 skos:exactMatch HGNC:16386 Unspecified OSBPL9 +OMIM:606738 skos:exactMatch UMLS:C1424246 Unspecified OSBPL10 +OMIM:606738 skos:exactMatch HGNC_symbol:OSBPL10 Unspecified OSBPL10 +OMIM:606738 skos:exactMatch HGNC:16395 Unspecified OSBPL10 +OMIM:118800 skos:exactMatch UMLS:C4551506 Unspecified paroxysmal nonkinesigenic dyskinesia 1 +OMIM:118800 skos:exactMatch ORPHA:98810 Unspecified paroxysmal nonkinesigenic dyskinesia 1 +OMIM:618720 skos:exactMatch HGNC:30012 Unspecified PDF +OMIM:618720 skos:exactMatch HGNC_symbol:PDF Unspecified PDF +OMIM:618722 skos:exactMatch HGNC:16102 Unspecified FAM210B +OMIM:618722 skos:exactMatch HGNC_symbol:FAM210B Unspecified FAM210B +OMIM:618721 skos:exactMatch UMLS:C5231473 Unspecified developmental and epileptic encephalopathy 82 +OMIM:618713 skos:exactMatch HGNC_symbol:CYS1 Unspecified CYS1 +OMIM:618713 skos:exactMatch HGNC:18525 Unspecified CYS1 +OMIM:618712 skos:exactMatch HGNC:24786 Unspecified ANKRD45 +OMIM:618712 skos:exactMatch HGNC_symbol:ANKRD45 Unspecified ANKRD45 +OMIM:618715 skos:exactMatch HGNC_symbol:ZDHHC6 Unspecified ZDHHC6 +OMIM:618715 skos:exactMatch HGNC:19160 Unspecified ZDHHC6 +OMIM:618714 skos:exactMatch HGNC:29176 Unspecified RAP1GAP2 +OMIM:618714 skos:exactMatch HGNC_symbol:RAP1GAP2 Unspecified RAP1GAP2 +OMIM:618717 skos:exactMatch HGNC_symbol:EPGN Unspecified EPGN +OMIM:618717 skos:exactMatch HGNC:17470 Unspecified EPGN +OMIM:618716 skos:exactMatch HGNC:25464 Unspecified ATG16L2 +OMIM:618716 skos:exactMatch HGNC_symbol:ATG16L2 Unspecified ATG16L2 +OMIM:618719 skos:exactMatch UMLS:C5231472 Unspecified megabladder, congenital +OMIM:618718 skos:exactMatch UMLS:C5231471 Unspecified neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +OMIM:190151 skos:exactMatch UMLS:C0812265 Unspecified ERBB3 +OMIM:190151 skos:exactMatch HGNC:3431 Unspecified ERBB3 +OMIM:190151 skos:exactMatch HGNC_symbol:ERBB3 Unspecified ERBB3 +OMIM:606742 skos:exactMatch HGNC:11843 Unspecified TLL1 +OMIM:606742 skos:exactMatch UMLS:C1420758 Unspecified TLL1 +OMIM:606742 skos:exactMatch HGNC_symbol:TLL1 Unspecified TLL1 +OMIM:606743 skos:exactMatch HGNC:11844 Unspecified TLL2 +OMIM:606743 skos:exactMatch UMLS:C1420759 Unspecified TLL2 +OMIM:606743 skos:exactMatch HGNC_symbol:TLL2 Unspecified TLL2 +OMIM:606740 skos:exactMatch HGNC:12970 Unspecified ZNF180 +OMIM:606740 skos:exactMatch HGNC_symbol:ZNF180 Unspecified ZNF180 +OMIM:606740 skos:exactMatch UMLS:C1421669 Unspecified ZNF180 +OMIM:606741 skos:exactMatch HGNC:12971 Unspecified ZNF181 +OMIM:606741 skos:exactMatch HGNC_symbol:ZNF181 Unspecified ZNF181 +OMIM:606741 skos:exactMatch UMLS:C1421670 Unspecified ZNF181 +OMIM:606724 skos:exactMatch HGNC:7110 Unspecified MKNK1 +OMIM:606724 skos:exactMatch UMLS:C1334509 Unspecified MKNK1 +OMIM:606724 skos:exactMatch HGNC_symbol:MKNK1 Unspecified MKNK1 +OMIM:606725 skos:exactMatch UMLS:C0022797 Unspecified CLN6 +OMIM:606725 skos:exactMatch UMLS:C1413498 Unspecified CLN6 +OMIM:606725 skos:exactMatch HGNC_symbol:CLN6 Unspecified CLN6 +OMIM:606725 skos:exactMatch HGNC:2077 Unspecified CLN6 +OMIM:606725 skos:exactMatch UMLS:C1866282 Unspecified CLN6 +OMIM:606722 skos:exactMatch HGNC:7655 Unspecified NCALD +OMIM:606722 skos:exactMatch HGNC_symbol:NCALD Unspecified NCALD +OMIM:606722 skos:exactMatch UMLS:C1417604 Unspecified NCALD +OMIM:606723 skos:exactMatch HGNC:6889 Unspecified MAPKAPK5 +OMIM:606723 skos:exactMatch HGNC_symbol:MAPKAPK5 Unspecified MAPKAPK5 +OMIM:606723 skos:exactMatch UMLS:C1417029 Unspecified MAPKAPK5 +OMIM:606728 skos:exactMatch UMLS:C1419916 Unspecified CAVIN2 +OMIM:606728 skos:exactMatch HGNC_symbol:CAVIN2 Unspecified CAVIN2 +OMIM:606728 skos:exactMatch HGNC:10690 Unspecified CAVIN2 +OMIM:606729 skos:exactMatch HGNC_symbol:OSBP2 Unspecified OSBP2 +OMIM:606729 skos:exactMatch HGNC:8504 Unspecified OSBP2 +OMIM:606729 skos:exactMatch UMLS:C1418189 Unspecified OSBP2 +OMIM:606726 skos:exactMatch HGNC:13818 Unspecified SLC12A5 +OMIM:606726 skos:exactMatch UMLS:C1422213 Unspecified SLC12A5 +OMIM:606726 skos:exactMatch HGNC_symbol:SLC12A5 Unspecified SLC12A5 +OMIM:606726 skos:exactMatch UMLS:C4225257 Unspecified SLC12A5 +OMIM:606726 skos:exactMatch UMLS:C4225245 Unspecified SLC12A5 +OMIM:263570 skos:exactMatch UMLS:C1849722 Unspecified polyglucosan body neuropathy, adult form +OMIM:606727 skos:exactMatch HGNC_symbol:NKX2-3 Unspecified NKX2-3 +OMIM:606727 skos:exactMatch HGNC:7836 Unspecified NKX2-3 +OMIM:606727 skos:exactMatch UMLS:C1417736 Unspecified NKX2-3 +OMIM:618711 skos:exactMatch HGNC:26606 Unspecified METTL15 +OMIM:618711 skos:exactMatch HGNC_symbol:METTL15 Unspecified METTL15 +OMIM:618710 skos:exactMatch HGNC_symbol:PNO1 Unspecified PNO1 +OMIM:618710 skos:exactMatch HGNC:32790 Unspecified PNO1 +OMIM:618702 skos:exactMatch UMLS:C5231467 Unspecified short stature and microcephaly with genital anomalies +OMIM:618701 skos:exactMatch HGNC_symbol:LEUTX Unspecified LEUTX +OMIM:618701 skos:exactMatch HGNC:31953 Unspecified LEUTX +OMIM:618704 skos:exactMatch HGNC:33720 Unspecified CFAP221 +OMIM:618704 skos:exactMatch UMLS:C3890126 Unspecified CFAP221 +OMIM:618704 skos:exactMatch HGNC_symbol:CFAP221 Unspecified CFAP221 +OMIM:618703 skos:exactMatch HGNC:13075 Unspecified ZNF281 +OMIM:618703 skos:exactMatch HGNC_symbol:ZNF281 Unspecified ZNF281 +OMIM:618703 skos:exactMatch UMLS:C1421767 Unspecified ZNF281 +OMIM:618706 skos:exactMatch HGNC_symbol:HOXA-AS3 Unspecified HOXAAS3 +OMIM:618706 skos:exactMatch HGNC:43748 Unspecified HOXAAS3 +OMIM:618705 skos:exactMatch HGNC:19866 Unspecified MBTD1 +OMIM:618705 skos:exactMatch HGNC_symbol:MBTD1 Unspecified MBTD1 +OMIM:618708 skos:exactMatch HGNC:20691 Unspecified NBR2 +OMIM:618708 skos:exactMatch HGNC_symbol:NBR2 Unspecified NBR2 +OMIM:618707 skos:exactMatch UMLS:C5231469 Unspecified neurodevelopmental disorder with absent language and variable seizures +OMIM:606731 skos:exactMatch HGNC_symbol:OSBPL2 Unspecified OSBPL2 +OMIM:606731 skos:exactMatch UMLS:C1423710 Unspecified OSBPL2 +OMIM:606731 skos:exactMatch HGNC:15761 Unspecified OSBPL2 +OMIM:606732 skos:exactMatch UMLS:C1424223 Unspecified OSBPL3 +OMIM:606732 skos:exactMatch HGNC_symbol:OSBPL3 Unspecified OSBPL3 +OMIM:606732 skos:exactMatch HGNC:16370 Unspecified OSBPL3 +OMIM:190160 skos:exactMatch HGNC:11799 Unspecified THRB +OMIM:190160 skos:exactMatch HGNC_symbol:THRB Unspecified THRB +OMIM:190160 skos:exactMatch UMLS:C0242988 Unspecified THRB +OMIM:606730 skos:exactMatch HGNC_symbol:OSBPL1A Unspecified OSBPL1A +OMIM:606730 skos:exactMatch HGNC:16398 Unspecified OSBPL1A +OMIM:606730 skos:exactMatch UMLS:C1424249 Unspecified OSBPL1A +OMIM:604259 skos:exactMatch UMLS:C1418667 Unspecified PLXNC1 +OMIM:604259 skos:exactMatch HGNC_symbol:PLXNC1 Unspecified PLXNC1 +OMIM:604259 skos:exactMatch HGNC:9106 Unspecified PLXNC1 +OMIM:604258 skos:exactMatch UMLS:C1366509 Unspecified DLC1 +OMIM:604258 skos:exactMatch HGNC:2897 Unspecified DLC1 +OMIM:604258 skos:exactMatch HGNC_symbol:DLC1 Unspecified DLC1 +OMIM:604258 skos:exactMatch UMLS:C1833970 Unspecified DLC1 +OMIM:300830 skos:exactMatch UMLS:C0795888 Unspecified autism, susceptibility to, X-linked 4 +OMIM:300832 skos:exactMatch HGNC_symbol:JPX Unspecified JPX +OMIM:300832 skos:exactMatch HGNC:37191 Unspecified JPX +OMIM:300832 skos:exactMatch UMLS:C3147679 Unspecified JPX +OMIM:616240 skos:exactMatch HGNC:28060 Unspecified OLMALINC +OMIM:616240 skos:exactMatch HGNC_symbol:OLMALINC Unspecified OLMALINC +OMIM:616240 skos:exactMatch UMLS:C3470628 Unspecified OLMALINC +OMIM:616240 skos:exactMatch UMLS:C4015670 Unspecified OLMALINC +OMIM:300831 skos:exactMatch UMLS:C3151781 Unspecified ck syndrome +OMIM:300831 skos:exactMatch ORPHA:251383 Unspecified ck syndrome +OMIM:616241 skos:exactMatch HGNC:27584 Unspecified METRNL +OMIM:616241 skos:exactMatch HGNC_symbol:METRNL Unspecified METRNL +OMIM:616241 skos:exactMatch UMLS:C1537686 Unspecified METRNL +OMIM:616242 skos:exactMatch HGNC:29116 Unspecified TMCC1 +OMIM:616242 skos:exactMatch HGNC_symbol:TMCC1 Unspecified TMCC1 +OMIM:616242 skos:exactMatch UMLS:C1539979 Unspecified TMCC1 +OMIM:300834 skos:exactMatch UMLS:C3151784 Unspecified macular degeneration, X-linked atrophic +OMIM:300833 skos:exactMatch UMLS:C3151782 Unspecified 46,xx sex reversal 3 +OMIM:300833 skos:exactMatch UMLS:C3151783 Unspecified 46,xx sex reversal 3 +OMIM:616243 skos:exactMatch HGNC:29146 Unspecified TMEM131L +OMIM:616243 skos:exactMatch UMLS:C1825675 Unspecified TMEM131L +OMIM:616243 skos:exactMatch HGNC_symbol:TMEM131L Unspecified TMEM131L +OMIM:300836 skos:exactMatch HGNC:6211 Unspecified ANOS1 +OMIM:300836 skos:exactMatch UMLS:C4016502 Unspecified ANOS1 +OMIM:300836 skos:exactMatch HGNC_symbol:ANOS1 Unspecified ANOS1 +OMIM:300836 skos:exactMatch UMLS:C1416536 Unspecified ANOS1 +OMIM:616244 skos:exactMatch HGNC_symbol:CHCHD2 Unspecified CHCHD2 +OMIM:616244 skos:exactMatch HGNC:21645 Unspecified CHCHD2 +OMIM:616244 skos:exactMatch UMLS:C1427670 Unspecified CHCHD2 +OMIM:616245 skos:exactMatch HGNC:28032 Unspecified EMC4 +OMIM:616245 skos:exactMatch UMLS:C1823345 Unspecified EMC4 +OMIM:616245 skos:exactMatch HGNC_symbol:EMC4 Unspecified EMC4 +OMIM:300835 skos:exactMatch UMLS:C3550856 Unspecified anemia, x-linked, with or without neutropenia and/or platelet abnormalities +OMIM:300835 skos:exactMatch ORPHA:363727 Unspecified anemia, x-linked, with or without neutropenia and/or platelet abnormalities +OMIM:616246 skos:exactMatch HGNC:48649 Unspecified MRLN +OMIM:616246 skos:exactMatch HGNC_symbol:MRLN Unspecified MRLN +OMIM:616246 skos:exactMatch UMLS:C3815103 Unspecified MRLN +OMIM:300838 skos:exactMatch HGNC_symbol:FRMPD4 Unspecified FRMPD4 +OMIM:300838 skos:exactMatch UMLS:C1825317 Unspecified FRMPD4 +OMIM:300838 skos:exactMatch HGNC:29007 Unspecified FRMPD4 +OMIM:616247 skos:exactMatch ORPHA:768 Unspecified long qt syndrome 14 +OMIM:616247 skos:exactMatch ORPHA:101016 Unspecified long qt syndrome 14 +OMIM:616247 skos:exactMatch UMLS:C4015671 Unspecified long qt syndrome 14 +OMIM:300837 skos:exactMatch UMLS:C1824929 Unspecified DGKK +OMIM:300837 skos:exactMatch HGNC:32395 Unspecified DGKK +OMIM:300837 skos:exactMatch HGNC_symbol:DGKK Unspecified DGKK +OMIM:616237 skos:exactMatch HGNC:29374 Unspecified KNDC1 +OMIM:616237 skos:exactMatch UMLS:C1428846 Unspecified KNDC1 +OMIM:616237 skos:exactMatch HGNC_symbol:KNDC1 Unspecified KNDC1 +OMIM:618899 skos:exactMatch HGNC_symbol:MAN2B2 Unspecified MAN2B2 +OMIM:618899 skos:exactMatch UMLS:C2986382 Unspecified MAN2B2 +OMIM:618899 skos:exactMatch UMLS:C1428881 Unspecified MAN2B2 +OMIM:618899 skos:exactMatch HGNC:29623 Unspecified MAN2B2 +OMIM:300839 skos:exactMatch HGNC_symbol:RS1 Unspecified RS1 +OMIM:300839 skos:exactMatch UMLS:C1419764 Unspecified RS1 +OMIM:300839 skos:exactMatch HGNC:10457 Unspecified RS1 +OMIM:616238 skos:exactMatch HGNC:19883 Unspecified ZBTB49 +OMIM:616238 skos:exactMatch HGNC_symbol:ZBTB49 Unspecified ZBTB49 +OMIM:616238 skos:exactMatch UMLS:C1426504 Unspecified ZBTB49 +OMIM:616239 skos:exactMatch UMLS:C4015643 Unspecified combined oxidative phosphorylation deficiency 24 +OMIM:604260 skos:exactMatch UMLS:C1335876 Unspecified STAT5B +OMIM:604260 skos:exactMatch HGNC_symbol:STAT5B Unspecified STAT5B +OMIM:604260 skos:exactMatch HGNC:11367 Unspecified STAT5B +OMIM:604260 skos:exactMatch UMLS:C5436546 Unspecified STAT5B +OMIM:604260 skos:exactMatch UMLS:C5435698 Unspecified STAT5B +OMIM:604262 skos:exactMatch HGNC:580 Unspecified APBA3 +OMIM:604262 skos:exactMatch HGNC_symbol:APBA3 Unspecified APBA3 +OMIM:604262 skos:exactMatch UMLS:C1412458 Unspecified APBA3 +OMIM:604261 skos:exactMatch HGNC_symbol:ATG5 Unspecified ATG5 +OMIM:604261 skos:exactMatch UMLS:C1825497 Unspecified ATG5 +OMIM:604261 skos:exactMatch HGNC:589 Unspecified ATG5 +OMIM:275300 skos:exactMatch UMLS:C0040587 Unspecified tracheobronchomegaly +OMIM:604264 skos:exactMatch UMLS:C1414308 Unspecified CELSR3 +OMIM:604264 skos:exactMatch HGNC_symbol:CELSR3 Unspecified CELSR3 +OMIM:604264 skos:exactMatch HGNC:3230 Unspecified CELSR3 +OMIM:604263 skos:exactMatch HGNC:15748 Unspecified PRND +OMIM:604263 skos:exactMatch UMLS:C1423700 Unspecified PRND +OMIM:604263 skos:exactMatch HGNC_symbol:PRND Unspecified PRND +OMIM:604266 skos:exactMatch UMLS:C1825961 Unspecified MEGF6 +OMIM:604266 skos:exactMatch HGNC_symbol:MEGF6 Unspecified MEGF6 +OMIM:604266 skos:exactMatch HGNC:3232 Unspecified MEGF6 +OMIM:604265 skos:exactMatch UMLS:C1414309 Unspecified CELSR2 +OMIM:604265 skos:exactMatch HGNC_symbol:CELSR2 Unspecified CELSR2 +OMIM:604265 skos:exactMatch HGNC:3231 Unspecified CELSR2 +OMIM:604268 skos:exactMatch UMLS:C1825963 Unspecified MEGF9 +OMIM:604268 skos:exactMatch HGNC_symbol:MEGF9 Unspecified MEGF9 +OMIM:604268 skos:exactMatch HGNC:3234 Unspecified MEGF9 +OMIM:604267 skos:exactMatch UMLS:C1825962 Unspecified MEGF8 +OMIM:604267 skos:exactMatch HGNC_symbol:MEGF8 Unspecified MEGF8 +OMIM:604267 skos:exactMatch HGNC:3233 Unspecified MEGF8 +OMIM:604249 skos:exactMatch UMLS:C1419770 Unspecified RTN3 +OMIM:604249 skos:exactMatch HGNC:10469 Unspecified RTN3 +OMIM:604249 skos:exactMatch HGNC_symbol:RTN3 Unspecified RTN3 +OMIM:238350 skos:exactMatch UMLS:C1855928 Unspecified hyperlexia +OMIM:300841 skos:exactMatch HGNC:3546 Unspecified F8 +OMIM:300841 skos:exactMatch UMLS:C1366370 Unspecified F8 +OMIM:300841 skos:exactMatch HGNC_symbol:F8 Unspecified F8 +OMIM:618890 skos:exactMatch UMLS:C5394423 Unspecified neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +OMIM:300840 skos:exactMatch HGNC_symbol:PRAF2 Unspecified PRAF2 +OMIM:300840 skos:exactMatch UMLS:C1538713 Unspecified PRAF2 +OMIM:300840 skos:exactMatch HGNC:28911 Unspecified PRAF2 +OMIM:618892 skos:exactMatch UMLS:C0342859 Unspecified harderoporphyria +OMIM:300843 skos:exactMatch UMLS:C3159311 Unspecified bornholm eye disease +OMIM:300842 skos:exactMatch UMLS:C0398568 Unspecified mcleod syndrome +OMIM:300842 skos:exactMatch UMLS:C3151853 Unspecified mcleod syndrome +OMIM:618891 skos:exactMatch UMLS:C5394425 Unspecified microcephaly, developmental delay, and brittle hair syndrome +OMIM:616230 skos:exactMatch UMLS:C4015619 Unspecified epilepsy, progressive myoclonic, 8 +OMIM:618894 skos:exactMatch HGNC:16185 Unspecified ROMO1 +OMIM:618894 skos:exactMatch UMLS:C1424062 Unspecified ROMO1 +OMIM:618894 skos:exactMatch HGNC_symbol:ROMO1 Unspecified ROMO1 +OMIM:300845 skos:exactMatch UMLS:C3151857 Unspecified moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism +OMIM:616231 skos:exactMatch UMLS:C4015624 Unspecified myopathy, vacuolar, with casq1 aggregates +OMIM:616232 skos:exactMatch HGNC:51253 Unspecified MEIKIN +OMIM:616232 skos:exactMatch HGNC_symbol:MEIKIN Unspecified MEIKIN +OMIM:616232 skos:exactMatch UMLS:C3891013 Unspecified MEIKIN +OMIM:300844 skos:exactMatch UMLS:C0796225 Unspecified intellectual developmental disorder, X-linked 19 +OMIM:618893 skos:exactMatch HGNC:16106 Unspecified NOL4L +OMIM:618893 skos:exactMatch HGNC_symbol:NOL4L Unspecified NOL4L +OMIM:618893 skos:exactMatch UMLS:C1423987 Unspecified NOL4L +OMIM:618896 skos:exactMatch HGNC_symbol:IZUMO3 Unspecified IZUMO3 +OMIM:618896 skos:exactMatch HGNC:31421 Unspecified IZUMO3 +OMIM:618896 skos:exactMatch UMLS:C1538360 Unspecified IZUMO3 +OMIM:300847 skos:exactMatch UMLS:C3275438 Unspecified autism, susceptibility to, X-linked 5 +OMIM:300846 skos:exactMatch UMLS:C1425388 Unspecified CD99L2 +OMIM:300846 skos:exactMatch HGNC_symbol:CD99L2 Unspecified CD99L2 +OMIM:300846 skos:exactMatch HGNC:18237 Unspecified CD99L2 +OMIM:618895 skos:exactMatch HGNC_symbol:IZUMO2 Unspecified IZUMO2 +OMIM:618895 skos:exactMatch UMLS:C1824482 Unspecified IZUMO2 +OMIM:618895 skos:exactMatch HGNC:28518 Unspecified IZUMO2 +OMIM:616234 skos:exactMatch UMLS:C1824110 Unspecified WDCP +OMIM:616234 skos:exactMatch HGNC:26157 Unspecified WDCP +OMIM:616234 skos:exactMatch HGNC_symbol:WDCP Unspecified WDCP +OMIM:616235 skos:exactMatch HGNC_symbol:KATNBL1 Unspecified KATNBL1 +OMIM:616235 skos:exactMatch HGNC:26199 Unspecified KATNBL1 +OMIM:616235 skos:exactMatch UMLS:C1539057 Unspecified KATNBL1 +OMIM:300849 skos:exactMatch UMLS:C3887939 Unspecified intellectual developmental disorder, X-linked 41 +OMIM:618898 skos:exactMatch UMLS:C1824546 Unspecified CEP85 +OMIM:618898 skos:exactMatch HGNC_symbol:CEP85 Unspecified CEP85 +OMIM:618898 skos:exactMatch HGNC:25309 Unspecified CEP85 +OMIM:616236 skos:exactMatch HGNC_symbol:CHADL Unspecified CHADL +OMIM:616236 skos:exactMatch UMLS:C2239298 Unspecified CHADL +OMIM:616236 skos:exactMatch HGNC:25165 Unspecified CHADL +OMIM:618897 skos:exactMatch HGNC_symbol:IZUMO4 Unspecified IZUMO4 +OMIM:618897 skos:exactMatch HGNC:26950 Unspecified IZUMO4 +OMIM:618897 skos:exactMatch UMLS:C3147678 Unspecified IZUMO4 +OMIM:300848 skos:exactMatch UMLS:C1839082 Unspecified mental retardation, X-linked 89 +OMIM:616226 skos:exactMatch HGNC_symbol:ATG2B Unspecified ATG2B +OMIM:616226 skos:exactMatch HGNC:20187 Unspecified ATG2B +OMIM:616226 skos:exactMatch UMLS:C1426760 Unspecified ATG2B +OMIM:618889 skos:exactMatch UMLS:C5394404 Unspecified liberfarb syndrome +OMIM:618888 skos:exactMatch UMLS:C1423799 Unspecified CASS4 +OMIM:618888 skos:exactMatch HGNC_symbol:CASS4 Unspecified CASS4 +OMIM:618888 skos:exactMatch HGNC:15878 Unspecified CASS4 +OMIM:616227 skos:exactMatch UMLS:C4015596 Unspecified myasthenic syndrome, congenital, 15 +OMIM:616228 skos:exactMatch UMLS:C4015597 Unspecified myasthenic syndrome, congenital, 14 +OMIM:616229 skos:exactMatch ORPHA:666 Unspecified osteogenesis imperfecta, iia 16 +OMIM:616229 skos:exactMatch UMLS:C4015610 Unspecified osteogenesis imperfecta, iia 16 +OMIM:616229 skos:exactMatch ORPHA:216812 Unspecified osteogenesis imperfecta, iia 16 +OMIM:277950 skos:exactMatch UMLS:C0432289 Unspecified winchester syndrome +OMIM:277950 skos:exactMatch ORPHA:371428 Unspecified winchester syndrome +OMIM:312820 skos:exactMatch HGNC_symbol:SSX1 Unspecified SSX1 +OMIM:312820 skos:exactMatch HGNC:11335 Unspecified SSX1 +OMIM:312820 skos:exactMatch UMLS:C1839329 Unspecified SSX1 +OMIM:312820 skos:exactMatch UMLS:C1420434 Unspecified SSX1 +OMIM:604251 skos:exactMatch HGNC_symbol:CABIN1 Unspecified None +OMIM:604251 skos:exactMatch UMLS:C1858663 Unspecified None +OMIM:604251 skos:exactMatch HGNC:24187 Unspecified None +OMIM:604250 skos:exactMatch UMLS:C1858664 Unspecified hemochromatosis, iia 3 +OMIM:604253 skos:exactMatch HGNC:2456 Unspecified CSNK1G3 +OMIM:604253 skos:exactMatch UMLS:C1413759 Unspecified CSNK1G3 +OMIM:604253 skos:exactMatch HGNC_symbol:CSNK1G3 Unspecified CSNK1G3 +OMIM:604252 skos:exactMatch HGNC:933 Unspecified BACE1 +OMIM:604252 skos:exactMatch HGNC_symbol:BACE1 Unspecified BACE1 +OMIM:604252 skos:exactMatch UMLS:C1412727 Unspecified BACE1 +OMIM:604255 skos:exactMatch HGNC_symbol:LBX1 Unspecified LBX1 +OMIM:604255 skos:exactMatch UMLS:C1825796 Unspecified LBX1 +OMIM:604255 skos:exactMatch HGNC:16960 Unspecified LBX1 +OMIM:604254 skos:exactMatch UMLS:C1858662 Unspecified dyslexia, susceptibility to, 3 +OMIM:604257 skos:exactMatch UMLS:C1858661 Unspecified camera-marugo-cohen syndrome +OMIM:604256 skos:exactMatch HGNC:1046 Unspecified BHLHE40 +OMIM:604256 skos:exactMatch HGNC_symbol:BHLHE40 Unspecified BHLHE40 +OMIM:604256 skos:exactMatch UMLS:C1412793 Unspecified BHLHE40 +OMIM:604237 skos:exactMatch HGNC_symbol:CRLF1 Unspecified CRLF1 +OMIM:604237 skos:exactMatch HGNC:2364 Unspecified CRLF1 +OMIM:604237 skos:exactMatch UMLS:C1413713 Unspecified CRLF1 +OMIM:606898 skos:exactMatch UMLS:C1422114 Unspecified CACNG6 +OMIM:606898 skos:exactMatch HGNC_symbol:CACNG6 Unspecified CACNG6 +OMIM:606898 skos:exactMatch HGNC:13625 Unspecified CACNG6 +OMIM:604239 skos:exactMatch UMLS:C1419049 Unspecified PSPHL +OMIM:604239 skos:exactMatch HGNC_symbol:PSPHP1 Unspecified PSPHL +OMIM:604239 skos:exactMatch HGNC:9578 Unspecified PSPHL +OMIM:606899 skos:exactMatch UMLS:C1422115 Unspecified CACNG7 +OMIM:606899 skos:exactMatch HGNC_symbol:CACNG7 Unspecified CACNG7 +OMIM:606899 skos:exactMatch HGNC:13626 Unspecified CACNG7 +OMIM:604238 skos:exactMatch HGNC:11128 Unspecified SNAI1 +OMIM:604238 skos:exactMatch HGNC_symbol:SNAI1 Unspecified SNAI1 +OMIM:604238 skos:exactMatch UMLS:C1420267 Unspecified SNAI1 +OMIM:300810 skos:exactMatch HGNC_symbol:MIR98 Unspecified MIR98 +OMIM:300810 skos:exactMatch HGNC:31649 Unspecified MIR98 +OMIM:300810 skos:exactMatch UMLS:C1537753 Unspecified MIR98 +OMIM:618881 skos:exactMatch ORPHA:570422 Unspecified galactosemia 4 +OMIM:618881 skos:exactMatch UMLS:C5394377 Unspecified galactosemia 4 +OMIM:618880 skos:exactMatch UMLS:C5394374 Unspecified glaucoma, primary closed-angle +OMIM:618883 skos:exactMatch UMLS:C5394383 Unspecified hypoparathyroidism, familial isolated, 2 +OMIM:618883 skos:exactMatch ORPHA:99879 Unspecified hypoparathyroidism, familial isolated, 2 +OMIM:300812 skos:exactMatch HGNC:31493 Unspecified MIR105-2 +OMIM:300812 skos:exactMatch HGNC_symbol:MIR105-2 Unspecified MIR105-2 +OMIM:300812 skos:exactMatch UMLS:C1537762 Unspecified MIR105-2 +OMIM:616220 skos:exactMatch UMLS:C4015555 Unspecified focal segmental glomerulosclerosis 9 +OMIM:263300 skos:exactMatch UMLS:C0032463 Unspecified polycythemia vera +OMIM:618882 skos:exactMatch ORPHA:35858 Unspecified imerslund-grasbeck syndrome 2 +OMIM:618882 skos:exactMatch UMLS:C4016948 Unspecified imerslund-grasbeck syndrome 2 +OMIM:616221 skos:exactMatch UMLS:C4015557 Unspecified amelogenesis imperfecta, iia 1h +OMIM:300811 skos:exactMatch HGNC:31492 Unspecified MIR105-1 +OMIM:300811 skos:exactMatch HGNC_symbol:MIR105-1 Unspecified MIR105-1 +OMIM:300811 skos:exactMatch UMLS:C1537761 Unspecified MIR105-1 +OMIM:616222 skos:exactMatch UMLS:C4015558 Unspecified temple syndrome +OMIM:616222 skos:exactMatch ORPHA:254531 Unspecified temple syndrome +OMIM:616222 skos:exactMatch ORPHA:254516 Unspecified temple syndrome +OMIM:616222 skos:exactMatch ORPHA:254525 Unspecified temple syndrome +OMIM:616222 skos:exactMatch ORPHA:96184 Unspecified temple syndrome +OMIM:300814 skos:exactMatch UMLS:C3151752 Unspecified nystagmus 6, congenital, X-linked +OMIM:618885 skos:exactMatch UMLS:C5394387 Unspecified congenital disorder of glycosylation, iia iit +OMIM:616223 skos:exactMatch HGNC_symbol:ANGPTL8 Unspecified ANGPTL8 +OMIM:616223 skos:exactMatch HGNC:24933 Unspecified ANGPTL8 +OMIM:616223 skos:exactMatch UMLS:C3469759 Unspecified ANGPTL8 +OMIM:300813 skos:exactMatch UMLS:C0039101 Unspecified sarcoma, synovial +OMIM:618884 skos:exactMatch UMLS:C5394384 Unspecified proteinuria, chronic benign +OMIM:618887 skos:exactMatch HGNC_symbol:NFKBID Unspecified NFKBID +OMIM:618887 skos:exactMatch HGNC:15671 Unspecified NFKBID +OMIM:618887 skos:exactMatch UMLS:C2681901 Unspecified NFKBID +OMIM:616224 skos:exactMatch UMLS:C4479088 Unspecified myasthenic syndrome, congenital, 22 +OMIM:300816 skos:exactMatch UMLS:C3151753 Unspecified combined oxidative phosphorylation deficiency 6 +OMIM:616225 skos:exactMatch UMLS:C2239907 Unspecified ATG2A +OMIM:616225 skos:exactMatch HGNC_symbol:ATG2A Unspecified ATG2A +OMIM:616225 skos:exactMatch HGNC:29028 Unspecified ATG2A +OMIM:300815 skos:exactMatch UMLS:C2749007 Unspecified chromosome xq28 duplication syndrome +OMIM:618886 skos:exactMatch UMLS:C5394391 Unspecified pseudo-torch syndrome 3 +OMIM:616215 skos:exactMatch HGNC_symbol:CREB3L1 Unspecified CREB3L1 +OMIM:616215 skos:exactMatch UMLS:C4015610 Unspecified CREB3L1 +OMIM:616215 skos:exactMatch HGNC:18856 Unspecified CREB3L1 +OMIM:616215 skos:exactMatch UMLS:C1425827 Unspecified CREB3L1 +OMIM:618878 skos:exactMatch UMLS:C5394371 Unspecified leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome +OMIM:300818 skos:exactMatch UMLS:C3806670 Unspecified paroxysmal nocturnal hemoglobinuria 1 +OMIM:300818 skos:exactMatch ORPHA:447 Unspecified paroxysmal nocturnal hemoglobinuria 1 +OMIM:300817 skos:exactMatch HGNC:26233 Unspecified EFHC2 +OMIM:300817 skos:exactMatch UMLS:C1539334 Unspecified EFHC2 +OMIM:300817 skos:exactMatch HGNC_symbol:EFHC2 Unspecified EFHC2 +OMIM:618877 skos:exactMatch UMLS:C5394367 Unspecified leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome +OMIM:616216 skos:exactMatch UMLS:C4015537 Unspecified thrombocytopenia 5 +OMIM:616217 skos:exactMatch UMLS:C4015542 Unspecified nephronophthisis 19 +OMIM:300819 skos:exactMatch HGNC_symbol:ZNF630 Unspecified ZNF630 +OMIM:300819 skos:exactMatch HGNC:28855 Unspecified ZNF630 +OMIM:300819 skos:exactMatch UMLS:C1538209 Unspecified ZNF630 +OMIM:616218 skos:exactMatch HGNC_symbol:TBC1D13 Unspecified TBC1D13 +OMIM:616218 skos:exactMatch HGNC:25571 Unspecified TBC1D13 +OMIM:616218 skos:exactMatch UMLS:C1428502 Unspecified TBC1D13 +OMIM:618879 skos:exactMatch UMLS:C5394372 Unspecified neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures +OMIM:616219 skos:exactMatch UMLS:C4015552 Unspecified fibrosis of extraocular muscles, congenital, 5 +OMIM:604240 skos:exactMatch UMLS:C1415651 Unspecified TLX2 +OMIM:604240 skos:exactMatch HGNC_symbol:TLX2 Unspecified TLX2 +OMIM:604240 skos:exactMatch HGNC:5057 Unspecified TLX2 +OMIM:604242 skos:exactMatch UMLS:C1419427 Unspecified RNF6 +OMIM:604242 skos:exactMatch HGNC_symbol:RNF6 Unspecified RNF6 +OMIM:604242 skos:exactMatch HGNC:10069 Unspecified RNF6 +OMIM:604241 skos:exactMatch HGNC:14258 Unspecified CD2AP +OMIM:604241 skos:exactMatch UMLS:C1422519 Unspecified CD2AP +OMIM:604241 skos:exactMatch HGNC_symbol:CD2AP Unspecified CD2AP +OMIM:606889 skos:exactMatch UMLS:C1847200 Unspecified alzheimer disease 4 +OMIM:604226 skos:exactMatch UMLS:C1412549 Unspecified ARPC4 +OMIM:604226 skos:exactMatch HGNC:707 Unspecified ARPC4 +OMIM:604226 skos:exactMatch HGNC_symbol:ARPC4 Unspecified ARPC4 +OMIM:604225 skos:exactMatch HGNC:706 Unspecified ARPC3 +OMIM:604225 skos:exactMatch HGNC_symbol:ARPC3 Unspecified ARPC3 +OMIM:604225 skos:exactMatch UMLS:C1412548 Unspecified ARPC3 +OMIM:606887 skos:exactMatch HGNC_symbol:SUOX Unspecified SUOX +OMIM:606887 skos:exactMatch HGNC:11460 Unspecified SUOX +OMIM:606887 skos:exactMatch UMLS:C1420521 Unspecified SUOX +OMIM:606887 skos:exactMatch UMLS:C2931746 Unspecified SUOX +OMIM:606888 skos:exactMatch HGNC_symbol:CHRNA6 Unspecified CHRNA6 +OMIM:606888 skos:exactMatch UMLS:C1423867 Unspecified CHRNA6 +OMIM:606888 skos:exactMatch HGNC:15963 Unspecified CHRNA6 +OMIM:604227 skos:exactMatch UMLS:C1412550 Unspecified ARPC5 +OMIM:604227 skos:exactMatch HGNC:708 Unspecified ARPC5 +OMIM:604227 skos:exactMatch HGNC_symbol:ARPC5 Unspecified ARPC5 +OMIM:604229 skos:exactMatch UMLS:C4310809 Unspecified anterior segment dysgenesis 5 +OMIM:604229 skos:exactMatch ORPHA:708 Unspecified anterior segment dysgenesis 5 +OMIM:300821 skos:exactMatch HGNC_symbol:OPN1MW Unspecified OPN1MW +OMIM:300821 skos:exactMatch HGNC:4206 Unspecified OPN1MW +OMIM:300821 skos:exactMatch UMLS:C1415024 Unspecified OPN1MW +OMIM:618870 skos:exactMatch UMLS:C5394341 Unspecified skeletal dysplasia, mild, with joint laxity and advanced bone age +OMIM:300820 skos:exactMatch HGNC_symbol:MAP3K15 Unspecified MAP3K15 +OMIM:300820 skos:exactMatch HGNC:31689 Unspecified MAP3K15 +OMIM:300820 skos:exactMatch UMLS:C1537649 Unspecified MAP3K15 +OMIM:300823 skos:exactMatch UMLS:C1415882 Unspecified IDS +OMIM:300823 skos:exactMatch HGNC_symbol:IDS Unspecified IDS +OMIM:300823 skos:exactMatch HGNC:5389 Unspecified IDS +OMIM:618872 skos:exactMatch UMLS:C5394350 Unspecified nizon-isidor syndrome +OMIM:265950 skos:exactMatch UMLS:C0266159 Unspecified pyloric atresia +OMIM:616210 skos:exactMatch HGNC_symbol:C4orf46 Unspecified C4ORF46 +OMIM:616210 skos:exactMatch HGNC:27320 Unspecified C4ORF46 +OMIM:616210 skos:exactMatch UMLS:C2681224 Unspecified C4ORF46 +OMIM:300822 skos:exactMatch HGNC_symbol:OPN1LW Unspecified OPN1LW +OMIM:300822 skos:exactMatch HGNC:9936 Unspecified OPN1LW +OMIM:300822 skos:exactMatch UMLS:C1419325 Unspecified OPN1LW +OMIM:618871 skos:exactMatch HGNC:15515 Unspecified ARHGEF16 +OMIM:618871 skos:exactMatch HGNC_symbol:ARHGEF16 Unspecified ARHGEF16 +OMIM:618871 skos:exactMatch UMLS:C1423545 Unspecified ARHGEF16 +OMIM:618874 skos:exactMatch UMLS:C3495679 Unspecified chromosome 17q11.2 duplication syndrome, 1.4-mb +OMIM:618874 skos:exactMatch ORPHA:139474 Unspecified chromosome 17q11.2 duplication syndrome, 1.4-mb +OMIM:616211 skos:exactMatch UMLS:C4015519 Unspecified developmental and epileptic encephalopathy 28 +OMIM:616211 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 28 +OMIM:300825 skos:exactMatch HGNC:9890 Unspecified RBBP7 +OMIM:300825 skos:exactMatch UMLS:C1419292 Unspecified RBBP7 +OMIM:300825 skos:exactMatch HGNC_symbol:RBBP7 Unspecified RBBP7 +OMIM:618873 skos:exactMatch UMLS:C5394354 Unspecified lissencephaly 10 +OMIM:300824 skos:exactMatch UMLS:C3151780 Unspecified None +OMIM:616212 skos:exactMatch UMLS:C4015525 Unspecified lissencephaly 6 with microcephaly +OMIM:618876 skos:exactMatch UMLS:C5394362 Unspecified epilepsy, progressive myoclonic, 11 +OMIM:616213 skos:exactMatch HGNC_symbol:ZNF292 Unspecified ZNF292 +OMIM:616213 skos:exactMatch HGNC:18410 Unspecified ZNF292 +OMIM:616213 skos:exactMatch UMLS:C1425506 Unspecified ZNF292 +OMIM:300827 skos:exactMatch UMLS:C1414600 Unspecified FGF16 +OMIM:300827 skos:exactMatch HGNC_symbol:FGF16 Unspecified FGF16 +OMIM:300827 skos:exactMatch HGNC:3672 Unspecified FGF16 +OMIM:300826 skos:exactMatch HGNC_symbol:STAG2 Unspecified STAG2 +OMIM:300826 skos:exactMatch UMLS:C5393308 Unspecified STAG2 +OMIM:300826 skos:exactMatch HGNC:11355 Unspecified STAG2 +OMIM:300826 skos:exactMatch UMLS:C5193008 Unspecified STAG2 +OMIM:300826 skos:exactMatch UMLS:C4015968 Unspecified STAG2 +OMIM:300826 skos:exactMatch UMLS:C1420449 Unspecified STAG2 +OMIM:618875 skos:exactMatch UMLS:C5394359 Unspecified seizures, early-onset, with neurodegeneration and brain calcifications +OMIM:616214 skos:exactMatch UMLS:C0342283 Unspecified hyperproinsulinemia +OMIM:616204 skos:exactMatch UMLS:C4015505 Unspecified spinocerebellar ataxia, autosomal recessive 18 +OMIM:300829 skos:exactMatch UMLS:C1853577 Unspecified cardiomyopathy, fatal fetal, due to myocardial calcification +OMIM:618867 skos:exactMatch HGNC_symbol:RHOF Unspecified RHOF +OMIM:618867 skos:exactMatch UMLS:C1423669 Unspecified RHOF +OMIM:618867 skos:exactMatch HGNC:15703 Unspecified RHOF +OMIM:618866 skos:exactMatch UMLS:C5394329 Unspecified tremor, hereditary essential, 6 +OMIM:300828 skos:exactMatch HGNC:26392 Unspecified PTCHD1 +OMIM:300828 skos:exactMatch UMLS:C1538745 Unspecified PTCHD1 +OMIM:300828 skos:exactMatch HGNC_symbol:PTCHD1 Unspecified PTCHD1 +OMIM:616205 skos:exactMatch UMLS:C1826227 Unspecified MIR648 +OMIM:616205 skos:exactMatch HGNC_symbol:MIR648 Unspecified MIR648 +OMIM:616205 skos:exactMatch HGNC:32904 Unspecified MIR648 +OMIM:618869 skos:exactMatch HGNC_symbol:RNF144B Unspecified RNF144B +OMIM:618869 skos:exactMatch HGNC:21578 Unspecified RNF144B +OMIM:618869 skos:exactMatch UMLS:C1427625 Unspecified RNF144B +OMIM:616206 skos:exactMatch HGNC:49075 Unspecified NBAT1 +OMIM:616206 skos:exactMatch HGNC_symbol:NBAT1 Unspecified NBAT1 +OMIM:616206 skos:exactMatch UMLS:C3890693 Unspecified NBAT1 +OMIM:616207 skos:exactMatch HGNC:48588 Unspecified NRAV +OMIM:616207 skos:exactMatch UMLS:C3890660 Unspecified NRAV +OMIM:616207 skos:exactMatch HGNC_symbol:NRAV Unspecified NRAV +OMIM:618868 skos:exactMatch UMLS:C5394335 Unspecified neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline +OMIM:616208 skos:exactMatch UMLS:C4015512 Unspecified amyotrophic lateral sclerosis 22 with or without frontotemporal dementia +OMIM:616209 skos:exactMatch UMLS:C4015513 Unspecified myopathy, isolated mitochondrial, autosomal dominant +OMIM:606892 skos:exactMatch UMLS:C1420495 Unspecified STX12 +OMIM:606892 skos:exactMatch HGNC:11430 Unspecified STX12 +OMIM:606892 skos:exactMatch HGNC_symbol:STX12 Unspecified STX12 +OMIM:606893 skos:exactMatch UMLS:C1847197 Unspecified vascular malformation, primary intraosseous +OMIM:604231 skos:exactMatch HGNC_symbol:PTTG2 Unspecified PTTG2 +OMIM:604231 skos:exactMatch HGNC:9691 Unspecified PTTG2 +OMIM:604231 skos:exactMatch UMLS:C1419130 Unspecified PTTG2 +OMIM:606890 skos:exactMatch UMLS:C1414946 Unspecified GALC +OMIM:606890 skos:exactMatch HGNC_symbol:GALC Unspecified GALC +OMIM:606890 skos:exactMatch HGNC:4115 Unspecified GALC +OMIM:606891 skos:exactMatch UMLS:C1825286 Unspecified FCRLA +OMIM:606891 skos:exactMatch HGNC:18504 Unspecified FCRLA +OMIM:606891 skos:exactMatch HGNC_symbol:FCRLA Unspecified FCRLA +OMIM:604230 skos:exactMatch HGNC:228 Unspecified ADAT1 +OMIM:604230 skos:exactMatch UMLS:C1412218 Unspecified ADAT1 +OMIM:604230 skos:exactMatch HGNC_symbol:ADAT1 Unspecified ADAT1 +OMIM:604233 skos:exactMatch ORPHA:36387 Unspecified generalized epilepsy with febrile seizures plus, iia 1 +OMIM:604233 skos:exactMatch UMLS:C1858672 Unspecified generalized epilepsy with febrile seizures plus, iia 1 +OMIM:606896 skos:exactMatch UMLS:C1847184 Unspecified dyslexia, susceptibility to, 5 +OMIM:606897 skos:exactMatch HGNC_symbol:LYST Unspecified LYST +OMIM:606897 skos:exactMatch UMLS:C1537630 Unspecified LYST +OMIM:606897 skos:exactMatch HGNC:1968 Unspecified LYST +OMIM:604232 skos:exactMatch UMLS:C2751780 Unspecified leber congenital amaurosis 3 +OMIM:604232 skos:exactMatch UMLS:C1858677 Unspecified leber congenital amaurosis 3 +OMIM:604235 skos:exactMatch HGNC:11066 Unspecified SLC7A8 +OMIM:604235 skos:exactMatch UMLS:C1420227 Unspecified SLC7A8 +OMIM:604235 skos:exactMatch HGNC_symbol:SLC7A8 Unspecified SLC7A8 +OMIM:606894 skos:exactMatch UMLS:C1847196 Unspecified duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery +OMIM:606895 skos:exactMatch UMLS:C1847185 Unspecified symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch +OMIM:604234 skos:exactMatch UMLS:C1416505 Unspecified ITGBL1 +OMIM:604234 skos:exactMatch HGNC:6164 Unspecified ITGBL1 +OMIM:604234 skos:exactMatch HGNC_symbol:ITGBL1 Unspecified ITGBL1 +OMIM:300870 skos:exactMatch UMLS:C1835857 Unspecified aneurysm, intracranial berry, 5 +OMIM:214350 skos:exactMatch UMLS:C0406733 Unspecified chand syndrome +OMIM:300872 skos:exactMatch UMLS:C3550875 Unspecified autism, susceptibility to, X-linked 6 +OMIM:616280 skos:exactMatch UMLS:C4084821 Unspecified charcot-marie-tooth disease, axonal, iia 2u +OMIM:238320 skos:exactMatch UMLS:C2673497 Unspecified leydig cell hypoplasia, iia 1 +OMIM:238320 skos:exactMatch UMLS:C3668935 Unspecified leydig cell hypoplasia, iia 1 +OMIM:238320 skos:exactMatch UMLS:C0266432 Unspecified leydig cell hypoplasia, iia 1 +OMIM:616281 skos:exactMatch UMLS:C4225388 Unspecified neurodevelopmental disorder with spastic paraplegia and microcephaly +OMIM:616281 skos:exactMatch ORPHA:477673 Unspecified neurodevelopmental disorder with spastic paraplegia and microcephaly +OMIM:300871 skos:exactMatch HGNC_symbol:FUNDC1 Unspecified FUNDC1 +OMIM:300871 skos:exactMatch UMLS:C1428741 Unspecified FUNDC1 +OMIM:300871 skos:exactMatch HGNC:28746 Unspecified FUNDC1 +OMIM:300874 skos:exactMatch UMLS:C1826062 Unspecified MIR508 +OMIM:300874 skos:exactMatch HGNC_symbol:MIR508 Unspecified MIR508 +OMIM:300874 skos:exactMatch HGNC:32145 Unspecified MIR508 +OMIM:616282 skos:exactMatch UMLS:C4225387 Unspecified spastic paraplegia 73, autosomal dominant +OMIM:616282 skos:exactMatch ORPHA:444099 Unspecified spastic paraplegia 73, autosomal dominant +OMIM:616283 skos:exactMatch HGNC:25461 Unspecified PUS3 +OMIM:616283 skos:exactMatch UMLS:C4310745 Unspecified PUS3 +OMIM:616283 skos:exactMatch UMLS:C1538753 Unspecified PUS3 +OMIM:616283 skos:exactMatch HGNC_symbol:PUS3 Unspecified PUS3 +OMIM:300873 skos:exactMatch HGNC_symbol:GNL3L Unspecified GNL3L +OMIM:300873 skos:exactMatch UMLS:C1539589 Unspecified GNL3L +OMIM:300873 skos:exactMatch HGNC:25553 Unspecified GNL3L +OMIM:616284 skos:exactMatch UMLS:C2239455 Unspecified FLG2 +OMIM:616284 skos:exactMatch HGNC_symbol:FLG2 Unspecified FLG2 +OMIM:616284 skos:exactMatch HGNC:33276 Unspecified FLG2 +OMIM:300876 skos:exactMatch HGNC_symbol:MIR509-3 Unspecified MIR509-3 +OMIM:300876 skos:exactMatch HGNC:33675 Unspecified MIR509-3 +OMIM:300876 skos:exactMatch UMLS:C2239699 Unspecified MIR509-3 +OMIM:616285 skos:exactMatch UMLS:C1425407 Unspecified FMNL2 +OMIM:616285 skos:exactMatch HGNC_symbol:FMNL2 Unspecified FMNL2 +OMIM:616285 skos:exactMatch HGNC:18267 Unspecified FMNL2 +OMIM:300875 skos:exactMatch UMLS:C1826063 Unspecified MIR509-1 +OMIM:300875 skos:exactMatch HGNC_symbol:MIR509-1 Unspecified MIR509-1 +OMIM:300875 skos:exactMatch HGNC:32146 Unspecified MIR509-1 +OMIM:300878 skos:exactMatch HGNC_symbol:DMRTC1 Unspecified DMRTC1 +OMIM:300878 skos:exactMatch UMLS:C1422264 Unspecified DMRTC1 +OMIM:300878 skos:exactMatch HGNC:13910 Unspecified DMRTC1 +OMIM:616286 skos:exactMatch UMLS:C4225386 Unspecified lethal congenital contracture syndrome 7 +OMIM:300877 skos:exactMatch UMLS:C1826060 Unspecified MIR506 +OMIM:300877 skos:exactMatch HGNC_symbol:MIR506 Unspecified MIR506 +OMIM:300877 skos:exactMatch HGNC:32143 Unspecified MIR506 +OMIM:616287 skos:exactMatch UMLS:C4225385 Unspecified lethal congenital contracture syndrome 8 +OMIM:616288 skos:exactMatch HGNC_symbol:FMNL3 Unspecified FMNL3 +OMIM:616288 skos:exactMatch HGNC:23698 Unspecified FMNL3 +OMIM:616288 skos:exactMatch UMLS:C1428202 Unspecified FMNL3 +OMIM:616289 skos:exactMatch ORPHA:98676 Unspecified optic atrophy 9 +OMIM:616289 skos:exactMatch UMLS:C4225384 Unspecified optic atrophy 9 +OMIM:300879 skos:exactMatch HGNC:12806 Unspecified XG +OMIM:300879 skos:exactMatch UMLS:C1421532 Unspecified XG +OMIM:300879 skos:exactMatch HGNC_symbol:XG Unspecified XG +OMIM:202370 skos:exactMatch UMLS:C3550234 Unspecified peroxisome biogenesis disorder 2b +OMIM:238310 skos:exactMatch HGNC:473 Unspecified AMT +OMIM:238310 skos:exactMatch HGNC_symbol:AMT Unspecified AMT +OMIM:238310 skos:exactMatch UMLS:C1412390 Unspecified AMT +OMIM:300880 skos:exactMatch HGNC:9555 Unspecified PSMD10 +OMIM:300880 skos:exactMatch HGNC_symbol:PSMD10 Unspecified PSMD10 +OMIM:300880 skos:exactMatch UMLS:C1419028 Unspecified PSMD10 +OMIM:300883 skos:exactMatch HGNC_symbol:SNX12 Unspecified SNX12 +OMIM:300883 skos:exactMatch UMLS:C1423103 Unspecified SNX12 +OMIM:300883 skos:exactMatch HGNC:14976 Unspecified SNX12 +OMIM:300882 skos:exactMatch UMLS:C3550903 Unspecified cornelia lange lange syndrome 5 +OMIM:300882 skos:exactMatch ORPHA:199 Unspecified cornelia lange lange syndrome 5 +OMIM:616270 skos:exactMatch UMLS:C4225394 Unspecified amelogenesis imperfecta, iia 1f +OMIM:300885 skos:exactMatch HGNC:2291 Unspecified COX7B +OMIM:300885 skos:exactMatch UMLS:C1413658 Unspecified COX7B +OMIM:300885 skos:exactMatch HGNC_symbol:COX7B Unspecified COX7B +OMIM:616271 skos:exactMatch UMLS:C4225393 Unspecified 3-methylglutaconic aciduria, iia 7b +OMIM:300884 skos:exactMatch ORPHA:324422 Unspecified developmental and epileptic encephalopathy 36 +OMIM:300884 skos:exactMatch UMLS:C3550904 Unspecified developmental and epileptic encephalopathy 36 +OMIM:300884 skos:exactMatch UMLS:C4317295 Unspecified developmental and epileptic encephalopathy 36 +OMIM:616272 skos:exactMatch UMLS:C1826102 Unspecified MIR520G +OMIM:616272 skos:exactMatch HGNC:32116 Unspecified MIR520G +OMIM:616272 skos:exactMatch HGNC_symbol:MIR520G Unspecified MIR520G +OMIM:300887 skos:exactMatch UMLS:C3550921 Unspecified linear skin defects with multiple congenital anomalies 2 +OMIM:616273 skos:exactMatch UMLS:C3890502 Unspecified PCAT29 +OMIM:616273 skos:exactMatch HGNC:50895 Unspecified PCAT29 +OMIM:616273 skos:exactMatch HGNC_symbol:PCAT29 Unspecified PCAT29 +OMIM:616274 skos:exactMatch HGNC_symbol:MIR4276 Unspecified MIR4276 +OMIM:616274 skos:exactMatch HGNC:38232 Unspecified MIR4276 +OMIM:616274 skos:exactMatch UMLS:C2829840 Unspecified MIR4276 +OMIM:300886 skos:exactMatch UMLS:C3550913 Unspecified intellectual developmental disorder, x-linked, syndromic 32 +OMIM:310200 skos:exactMatch UMLS:C0013264 Unspecified muscular dystrophy, duchenne iia +OMIM:300889 skos:exactMatch HGNC:17407 Unspecified ZC3H12B +OMIM:300889 skos:exactMatch HGNC_symbol:ZC3H12B Unspecified ZC3H12B +OMIM:300889 skos:exactMatch UMLS:C1823925 Unspecified ZC3H12B +OMIM:616275 skos:exactMatch UMLS:C2239428 Unspecified FAM136A +OMIM:616275 skos:exactMatch HGNC_symbol:FAM136A Unspecified FAM136A +OMIM:616275 skos:exactMatch HGNC:25911 Unspecified FAM136A +OMIM:616276 skos:exactMatch UMLS:C4225392 Unspecified coenzyme Q10 deficiency, primary, 7 +OMIM:300888 skos:exactMatch ORPHA:329235 Unspecified hypothyroidism, central, with testicular enlargement +OMIM:300888 skos:exactMatch UMLS:C3550963 Unspecified hypothyroidism, central, with testicular enlargement +OMIM:616277 skos:exactMatch ORPHA:255241 Unspecified mitochondrial short-chain enoyl-coa hydratase 1 deficiency +OMIM:616277 skos:exactMatch UMLS:C4225391 Unspecified mitochondrial short-chain enoyl-coa hydratase 1 deficiency +OMIM:616278 skos:exactMatch UMLS:C4225390 Unspecified bile acid synthesis defect, congenital, 5 +OMIM:616279 skos:exactMatch UMLS:C4225389 Unspecified cataract 43 +OMIM:228990 skos:exactMatch UMLS:C0271257 Unspecified fleck retina of kandori +OMIM:312861 skos:exactMatch UMLS:C1415811 Unspecified HTR2C +OMIM:312861 skos:exactMatch HGNC_symbol:HTR2C Unspecified HTR2C +OMIM:312861 skos:exactMatch HGNC:5295 Unspecified HTR2C +OMIM:604291 skos:exactMatch UMLS:C1858580 Unspecified ascaris lumbricoides infection, susceptibility to +OMIM:604290 skos:exactMatch UMLS:C1858583 Unspecified aceruloplasminemia +OMIM:604290 skos:exactMatch UMLS:C0878682 Unspecified aceruloplasminemia +OMIM:604293 skos:exactMatch UMLS:C1418665 Unspecified PLXNB2 +OMIM:604293 skos:exactMatch HGNC:9104 Unspecified PLXNB2 +OMIM:604293 skos:exactMatch HGNC_symbol:PLXNB2 Unspecified PLXNB2 +OMIM:312863 skos:exactMatch UMLS:C1279481 Unspecified combined immunodeficiency, X-linked +OMIM:604292 skos:exactMatch UMLS:C1858562 Unspecified ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 +OMIM:312865 skos:exactMatch UMLS:C1420041 Unspecified SHOX +OMIM:312865 skos:exactMatch HGNC:10853 Unspecified SHOX +OMIM:312865 skos:exactMatch HGNC_symbol:SHOX Unspecified SHOX +OMIM:604295 skos:exactMatch HGNC:12661 Unspecified VAX2 +OMIM:604295 skos:exactMatch HGNC_symbol:VAX2 Unspecified VAX2 +OMIM:604295 skos:exactMatch UMLS:C1421433 Unspecified VAX2 +OMIM:604294 skos:exactMatch HGNC:12660 Unspecified VAX1 +OMIM:604294 skos:exactMatch HGNC_symbol:VAX1 Unspecified VAX1 +OMIM:604294 skos:exactMatch UMLS:C1421432 Unspecified VAX1 +OMIM:251300 skos:exactMatch UMLS:C4551772 Unspecified galloway-mowat syndrome 1 +OMIM:251300 skos:exactMatch UMLS:C0795949 Unspecified galloway-mowat syndrome 1 +OMIM:604297 skos:exactMatch UMLS:C4479313 Unspecified SYNJ1 +OMIM:604297 skos:exactMatch HGNC:11503 Unspecified SYNJ1 +OMIM:604297 skos:exactMatch HGNC_symbol:SYNJ1 Unspecified SYNJ1 +OMIM:604297 skos:exactMatch UMLS:C1420552 Unspecified SYNJ1 +OMIM:604297 skos:exactMatch UMLS:C3809824 Unspecified SYNJ1 +OMIM:604296 skos:exactMatch HGNC:4570 Unspecified GRHPR +OMIM:604296 skos:exactMatch HGNC_symbol:GRHPR Unspecified GRHPR +OMIM:604296 skos:exactMatch UMLS:C1415286 Unspecified GRHPR +OMIM:238300 skos:exactMatch HGNC:4313 Unspecified GLDC +OMIM:238300 skos:exactMatch HGNC_symbol:GLDC Unspecified GLDC +OMIM:238300 skos:exactMatch UMLS:C1415099 Unspecified GLDC +OMIM:604299 skos:exactMatch HGNC:24035 Unspecified APPL1 +OMIM:604299 skos:exactMatch UMLS:C1858559 Unspecified APPL1 +OMIM:604299 skos:exactMatch HGNC_symbol:APPL1 Unspecified APPL1 +OMIM:604298 skos:exactMatch HGNC:24133 Unspecified STAP1 +OMIM:604298 skos:exactMatch UMLS:C1332447 Unspecified STAP1 +OMIM:604298 skos:exactMatch HGNC_symbol:STAP1 Unspecified STAP1 +OMIM:214370 skos:exactMatch UMLS:C1861669 Unspecified neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers +OMIM:300850 skos:exactMatch UMLS:C3275443 Unspecified intellectual developmental disorder, X-linked 90 +OMIM:616260 skos:exactMatch UMLS:C4015710 Unspecified tenorio syndrome +OMIM:300852 skos:exactMatch UMLS:C3275444 Unspecified mental retardation, X-linked 88 +OMIM:616261 skos:exactMatch HGNC:26033 Unspecified PUS7 +OMIM:616261 skos:exactMatch UMLS:C1826739 Unspecified PUS7 +OMIM:616261 skos:exactMatch HGNC_symbol:PUS7 Unspecified PUS7 +OMIM:300851 skos:exactMatch UMLS:C1845144 Unspecified mental retardation, X-linked 92 +OMIM:238340 skos:exactMatch UMLS:C0268574 Unspecified hyperleucine-isoleucinemia +OMIM:300854 skos:exactMatch UMLS:C3275446 Unspecified renal cell carcinoma, xp11-associated +OMIM:616262 skos:exactMatch UMLS:C1537499 Unspecified KLHL21 +OMIM:616262 skos:exactMatch HGNC:29041 Unspecified KLHL21 +OMIM:616262 skos:exactMatch HGNC_symbol:KLHL21 Unspecified KLHL21 +OMIM:300853 skos:exactMatch UMLS:C3275445 Unspecified immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia +OMIM:616263 skos:exactMatch UMLS:C4015728 Unspecified neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 +OMIM:300856 skos:exactMatch UMLS:C3275458 Unspecified hypospadias 4, x-linked, susceptibility to +OMIM:616264 skos:exactMatch UMLS:C3891017 Unspecified MAFTRR +OMIM:616264 skos:exactMatch HGNC_symbol:MAFTRR Unspecified MAFTRR +OMIM:616264 skos:exactMatch HGNC:51525 Unspecified MAFTRR +OMIM:300855 skos:exactMatch UMLS:C3275447 Unspecified ogden syndrome +OMIM:616265 skos:exactMatch UMLS:C4015729 Unspecified peeling skin syndrome 3 +OMIM:300858 skos:exactMatch UMLS:C3275460 Unspecified intellectual developmental disorder, x-linked, syndromic 17 +OMIM:616266 skos:exactMatch UMLS:C4225398 Unspecified congenital contractures of the limbs and face, hypotonia, and developmental delay +OMIM:300857 skos:exactMatch UMLS:C3275459 Unspecified amyotrophic lateral sclerosis 15 with or without frontotemporal dementia +OMIM:616267 skos:exactMatch UMLS:C4225397 Unspecified ataxia-oculomotor apraxia 4 +OMIM:616267 skos:exactMatch ORPHA:459033 Unspecified ataxia-oculomotor apraxia 4 +OMIM:616268 skos:exactMatch ORPHA:457193 Unspecified arboleda-tham syndrome +OMIM:616268 skos:exactMatch UMLS:C4225396 Unspecified arboleda-tham syndrome +OMIM:300859 skos:exactMatch HGNC_symbol:CCDC22 Unspecified CCDC22 +OMIM:300859 skos:exactMatch HGNC:28909 Unspecified CCDC22 +OMIM:300859 skos:exactMatch UMLS:C4225419 Unspecified CCDC22 +OMIM:300859 skos:exactMatch UMLS:C1824547 Unspecified CCDC22 +OMIM:616269 skos:exactMatch UMLS:C4225395 Unspecified intellectual developmental disorder, autosomal recessive 48 +OMIM:616259 skos:exactMatch UMLS:C3469836 Unspecified SNHG14 +OMIM:616259 skos:exactMatch HGNC_symbol:SNHG14 Unspecified SNHG14 +OMIM:616259 skos:exactMatch HGNC:37462 Unspecified SNHG14 +OMIM:604280 skos:exactMatch UMLS:C1826602 Unspecified PLXNA4 +OMIM:604280 skos:exactMatch HGNC_symbol:PLXNA4 Unspecified PLXNA4 +OMIM:604280 skos:exactMatch HGNC:9102 Unspecified PLXNA4 +OMIM:604282 skos:exactMatch UMLS:C1418668 Unspecified PLXND1 +OMIM:604282 skos:exactMatch HGNC_symbol:PLXND1 Unspecified PLXND1 +OMIM:604282 skos:exactMatch HGNC:9107 Unspecified PLXND1 +OMIM:312830 skos:exactMatch UMLS:C1839321 Unspecified scarf syndrome +OMIM:604281 skos:exactMatch UMLS:C1332118 Unspecified DBF4 +OMIM:604281 skos:exactMatch HGNC_symbol:DBF4 Unspecified DBF4 +OMIM:604281 skos:exactMatch HGNC:17364 Unspecified DBF4 +OMIM:604283 skos:exactMatch UMLS:C1418891 Unspecified PRG4 +OMIM:604283 skos:exactMatch HGNC_symbol:PRG4 Unspecified PRG4 +OMIM:604283 skos:exactMatch HGNC:9364 Unspecified PRG4 +OMIM:604286 skos:exactMatch UMLS:C1858593 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 4 +OMIM:604285 skos:exactMatch UMLS:C1412290 Unspecified AGXT +OMIM:604285 skos:exactMatch HGNC_symbol:AGXT Unspecified AGXT +OMIM:604285 skos:exactMatch HGNC:341 Unspecified AGXT +OMIM:604288 skos:exactMatch UMLS:C1858591 Unspecified cardiomyopathy, dilated, 1h +OMIM:604287 skos:exactMatch UMLS:C1858592 Unspecified carney triad +OMIM:277900 skos:exactMatch ORPHA:905 Unspecified wilson disease +OMIM:277900 skos:exactMatch UMLS:C0019202 Unspecified wilson disease +OMIM:604289 skos:exactMatch HGNC_symbol:RAD54B Unspecified RAD54B +OMIM:604289 skos:exactMatch UMLS:C1424839 Unspecified RAD54B +OMIM:604289 skos:exactMatch HGNC:17228 Unspecified RAD54B +OMIM:604269 skos:exactMatch HGNC:3596 Unspecified FAT2 +OMIM:604269 skos:exactMatch UMLS:C1414535 Unspecified FAT2 +OMIM:604269 skos:exactMatch HGNC_symbol:FAT2 Unspecified FAT2 +OMIM:300861 skos:exactMatch UMLS:C3275471 Unspecified intellectual developmental disorder, x-linked, syndromic, chudley-schwartz iia +OMIM:238330 skos:exactMatch UMLS:C1415025 Unspecified GCSH +OMIM:238330 skos:exactMatch HGNC_symbol:GCSH Unspecified GCSH +OMIM:238330 skos:exactMatch HGNC:4208 Unspecified GCSH +OMIM:300860 skos:exactMatch UMLS:C3275464 Unspecified intellectual developmental disorder, x-linked, syndromic, nascimento iia +OMIM:238331 skos:exactMatch UMLS:C1414063 Unspecified DLD +OMIM:238331 skos:exactMatch HGNC:2898 Unspecified DLD +OMIM:238331 skos:exactMatch HGNC_symbol:DLD Unspecified DLD +OMIM:300863 skos:exactMatch UMLS:C3275476 Unspecified chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia +OMIM:300862 skos:exactMatch HGNC:17152 Unspecified ACOT9 +OMIM:300862 skos:exactMatch UMLS:C1825833 Unspecified ACOT9 +OMIM:300862 skos:exactMatch HGNC_symbol:ACOT9 Unspecified ACOT9 +OMIM:616250 skos:exactMatch HGNC_symbol:NWD1 Unspecified NWD1 +OMIM:616250 skos:exactMatch HGNC:27619 Unspecified NWD1 +OMIM:616250 skos:exactMatch UMLS:C2239789 Unspecified NWD1 +OMIM:616251 skos:exactMatch HGNC_symbol:TCAF1 Unspecified TCAF1 +OMIM:616251 skos:exactMatch UMLS:C2239417 Unspecified TCAF1 +OMIM:616251 skos:exactMatch HGNC:22201 Unspecified TCAF1 +OMIM:300865 skos:exactMatch UMLS:C1826057 Unspecified MIR503 +OMIM:300865 skos:exactMatch HGNC_symbol:MIR503 Unspecified MIR503 +OMIM:300865 skos:exactMatch HGNC:32138 Unspecified MIR503 +OMIM:616252 skos:exactMatch UMLS:C2239435 Unspecified TCAF2 +OMIM:616252 skos:exactMatch HGNC_symbol:TCAF2 Unspecified TCAF2 +OMIM:616252 skos:exactMatch HGNC:26878 Unspecified TCAF2 +OMIM:300864 skos:exactMatch UMLS:C3275487 Unspecified cerebral-cerebellar-coloboma syndrome, X-linked +OMIM:616253 skos:exactMatch HGNC_symbol:GSX2 Unspecified GSX2 +OMIM:616253 skos:exactMatch UMLS:C2239511 Unspecified GSX2 +OMIM:616253 skos:exactMatch UMLS:C5231440 Unspecified GSX2 +OMIM:616253 skos:exactMatch HGNC:24959 Unspecified GSX2 +OMIM:300867 skos:exactMatch UMLS:C3275495 Unspecified kabuki syndrome 2 +OMIM:616254 skos:exactMatch UMLS:C1824754 Unspecified CLPB +OMIM:616254 skos:exactMatch HGNC_symbol:CLPB Unspecified CLPB +OMIM:616254 skos:exactMatch HGNC:30664 Unspecified CLPB +OMIM:300866 skos:exactMatch UMLS:C1826064 Unspecified MIR510 +OMIM:300866 skos:exactMatch HGNC_symbol:MIR510 Unspecified MIR510 +OMIM:300866 skos:exactMatch HGNC:32147 Unspecified MIR510 +OMIM:300869 skos:exactMatch UMLS:C3275521 Unspecified chromosome xq27.3-q28 duplication syndrome +OMIM:616255 skos:exactMatch UMLS:C4225399 Unspecified short stature with nonspecific skeletal abnormalities +OMIM:300868 skos:exactMatch ORPHA:300496 Unspecified multiple congenital anomalies-hypotonia-seizures syndrome 2 +OMIM:300868 skos:exactMatch UMLS:C3275508 Unspecified multiple congenital anomalies-hypotonia-seizures syndrome 2 +OMIM:616256 skos:exactMatch HGNC_symbol:CLEC4G Unspecified CLEC4G +OMIM:616256 skos:exactMatch UMLS:C1539098 Unspecified CLEC4G +OMIM:616256 skos:exactMatch HGNC:24591 Unspecified CLEC4G +OMIM:616257 skos:exactMatch HGNC:3725 Unspecified FKBP9 +OMIM:616257 skos:exactMatch UMLS:C1414631 Unspecified FKBP9 +OMIM:616257 skos:exactMatch HGNC_symbol:FKBP9 Unspecified FKBP9 +OMIM:616258 skos:exactMatch UMLS:C4015701 Unspecified meckel syndrome 12 +OMIM:616248 skos:exactMatch UMLS:C4015686 Unspecified lethal congenital contracture syndrome 6 +OMIM:616249 skos:exactMatch UMLS:C4015695 Unspecified long qt syndrome 15 +OMIM:616249 skos:exactMatch ORPHA:768 Unspecified long qt syndrome 15 +OMIM:616249 skos:exactMatch ORPHA:101016 Unspecified long qt syndrome 15 +OMIM:312840 skos:exactMatch UMLS:C1839320 Unspecified schimke X-linked mental retardation syndrome +OMIM:604271 skos:exactMatch UMLS:C3888131 Unspecified growth hormone insensitivity, partial +OMIM:604271 skos:exactMatch UMLS:C1858656 Unspecified growth hormone insensitivity, partial +OMIM:226350 skos:exactMatch UMLS:C0264005 Unspecified eosinophilic fasciitis +OMIM:604270 skos:exactMatch HGNC_symbol:LRP4 Unspecified LRP4 +OMIM:604270 skos:exactMatch HGNC:6696 Unspecified LRP4 +OMIM:604270 skos:exactMatch UMLS:C1416916 Unspecified LRP4 +OMIM:604273 skos:exactMatch UMLS:C3276276 Unspecified mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 1 +OMIM:604272 skos:exactMatch HGNC_symbol:SCO2 Unspecified SCO2 +OMIM:604272 skos:exactMatch UMLS:C1419873 Unspecified SCO2 +OMIM:604272 skos:exactMatch HGNC:10604 Unspecified SCO2 +OMIM:604272 skos:exactMatch UMLS:C1837148 Unspecified SCO2 +OMIM:604272 skos:exactMatch UMLS:C5399977 Unspecified SCO2 +OMIM:604275 skos:exactMatch UMLS:C1413801 Unspecified CTNND2 +OMIM:604275 skos:exactMatch HGNC_symbol:CTNND2 Unspecified CTNND2 +OMIM:604275 skos:exactMatch HGNC:2516 Unspecified CTNND2 +OMIM:604274 skos:exactMatch UMLS:C1334309 Unspecified KLRA1P +OMIM:604274 skos:exactMatch HGNC_symbol:KLRA1P Unspecified KLRA1P +OMIM:604274 skos:exactMatch HGNC:6372 Unspecified KLRA1P +OMIM:604277 skos:exactMatch HGNC:11233 Unspecified SPAST +OMIM:604277 skos:exactMatch HGNC_symbol:SPAST Unspecified SPAST +OMIM:604277 skos:exactMatch UMLS:C1539809 Unspecified SPAST +OMIM:604276 skos:exactMatch HGNC:9026 Unspecified PKP4 +OMIM:604276 skos:exactMatch HGNC_symbol:PKP4 Unspecified PKP4 +OMIM:604276 skos:exactMatch UMLS:C1418615 Unspecified PKP4 +OMIM:309200 skos:exactMatch UMLS:C1839839 Unspecified major affective disorder 2 +OMIM:604279 skos:exactMatch HGNC_symbol:JMY Unspecified JMY +OMIM:604279 skos:exactMatch HGNC:28916 Unspecified JMY +OMIM:604279 skos:exactMatch UMLS:C1858625 Unspecified JMY +OMIM:604278 skos:exactMatch UMLS:C1970309 Unspecified renal tubular acidosis, proximal, with ocular abnormalities and mental retardation +OMIM:265900 skos:exactMatch UMLS:C0265294 Unspecified pyle disease +OMIM:265900 skos:exactMatch ORPHA:3005 Unspecified pyle disease +OMIM:214300 skos:exactMatch UMLS:C1859209 Unspecified klippel-feil syndrome 2, autosomal recessive +OMIM:430000 skos:exactMatch UMLS:C1416408 Unspecified IL3RA +OMIM:430000 skos:exactMatch HGNC:6012 Unspecified IL3RA +OMIM:430000 skos:exactMatch HGNC_symbol:IL3RA Unspecified IL3RA +OMIM:228940 skos:exactMatch UMLS:C1856727 Unspecified fibuloulnar aplasia or hypoplasia with renal abnormalities +OMIM:131500 skos:exactMatch UMLS:C0678230 Unspecified epicanthus +OMIM:228980 skos:exactMatch UMLS:C1856718 Unspecified fleck retina, familial benign +OMIM:616290 skos:exactMatch UMLS:C1538224 Unspecified ZNF658 +OMIM:616290 skos:exactMatch HGNC_symbol:ZNF658 Unspecified ZNF658 +OMIM:616290 skos:exactMatch HGNC:25226 Unspecified ZNF658 +OMIM:616291 skos:exactMatch ORPHA:448251 Unspecified lichtenstein-knorr syndrome +OMIM:616291 skos:exactMatch UMLS:C4225383 Unspecified lichtenstein-knorr syndrome +OMIM:616292 skos:exactMatch UMLS:C1538361 Unspecified SAXO1 +OMIM:616292 skos:exactMatch HGNC_symbol:SAXO1 Unspecified SAXO1 +OMIM:616292 skos:exactMatch HGNC:28566 Unspecified SAXO1 +OMIM:616293 skos:exactMatch UMLS:C1537378 Unspecified HRNR +OMIM:616293 skos:exactMatch HGNC_symbol:HRNR Unspecified HRNR +OMIM:616293 skos:exactMatch HGNC:20846 Unspecified HRNR +OMIM:616294 skos:exactMatch UMLS:C4225382 Unspecified cole-carpenter syndrome 2 +OMIM:616294 skos:exactMatch ORPHA:2050 Unspecified cole-carpenter syndrome 2 +OMIM:616295 skos:exactMatch UMLS:C4225381 Unspecified peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads +OMIM:226300 skos:exactMatch ORPHA:566175 Unspecified complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy +OMIM:226300 skos:exactMatch UMLS:C4538570 Unspecified complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy +OMIM:202355 skos:exactMatch UMLS:C1859971 Unspecified adrenocortical unresponsiveness to acth with postreceptor defect +OMIM:616296 skos:exactMatch HGNC_symbol:MCTP1 Unspecified MCTP1 +OMIM:616296 skos:exactMatch UMLS:C1825954 Unspecified MCTP1 +OMIM:616296 skos:exactMatch HGNC:26183 Unspecified MCTP1 +OMIM:616297 skos:exactMatch HGNC:25636 Unspecified MCTP2 +OMIM:616297 skos:exactMatch HGNC_symbol:MCTP2 Unspecified MCTP2 +OMIM:616297 skos:exactMatch UMLS:C1825955 Unspecified MCTP2 +OMIM:616298 skos:exactMatch ORPHA:85191 Unspecified singleton-merten syndrome 2 +OMIM:616298 skos:exactMatch UMLS:C4225380 Unspecified singleton-merten syndrome 2 +OMIM:228960 skos:exactMatch UMLS:C1856719 Unspecified high molecular weight kininogen deficiency +OMIM:228960 skos:exactMatch UMLS:C2673571 Unspecified high molecular weight kininogen deficiency +OMIM:228960 skos:exactMatch UMLS:C2673570 Unspecified high molecular weight kininogen deficiency +OMIM:228960 skos:exactMatch UMLS:C2673572 Unspecified high molecular weight kininogen deficiency +OMIM:228960 skos:exactMatch UMLS:C0272340 Unspecified high molecular weight kininogen deficiency +OMIM:616299 skos:exactMatch ORPHA:401862 Unspecified lipoyltransferase 1 deficiency +OMIM:616299 skos:exactMatch UMLS:C4225379 Unspecified lipoyltransferase 1 deficiency +OMIM:253900 skos:exactMatch UMLS:C1850865 Unspecified muscular dystrophy, congenital, producing arthrogryposis +OMIM:143500 skos:exactMatch UMLS:C0017551 Unspecified gilbert syndrome +OMIM:131530 skos:exactMatch HGNC:3229 Unspecified EGF +OMIM:131530 skos:exactMatch UMLS:C1367721 Unspecified EGF +OMIM:131530 skos:exactMatch HGNC_symbol:EGF Unspecified EGF +OMIM:228900 skos:exactMatch UMLS:C1856738 Unspecified acromesomelic dysplasia 2b +OMIM:228900 skos:exactMatch ORPHA:2639 Unspecified acromesomelic dysplasia 2b +OMIM:300801 skos:exactMatch UMLS:C2749022 Unspecified chromosome xp11.23-p11.22 duplication syndrome +OMIM:300803 skos:exactMatch UMLS:C2749020 Unspecified intellectual developmental disorder, X-linked 97 +OMIM:300802 skos:exactMatch UMLS:C3275408 Unspecified intellectual developmental disorder, X-linked 96 +OMIM:300805 skos:exactMatch HGNC:39081 Unspecified FMR1AS1 +OMIM:300805 skos:exactMatch HGNC_symbol:FMR1-AS1 Unspecified FMR1AS1 +OMIM:300805 skos:exactMatch UMLS:C2749018 Unspecified FMR1AS1 +OMIM:300804 skos:exactMatch UMLS:C2749019 Unspecified joubert syndrome 10 +OMIM:300807 skos:exactMatch UMLS:C2749016 Unspecified thrombophilia, x-linked, due to factor 9 defect +OMIM:300806 skos:exactMatch UMLS:C1826605 Unspecified AFF2 +OMIM:300806 skos:exactMatch HGNC:3776 Unspecified AFF2 +OMIM:300806 skos:exactMatch UMLS:C1414810 Unspecified AFF2 +OMIM:300806 skos:exactMatch HGNC_symbol:AFF2 Unspecified AFF2 +OMIM:300809 skos:exactMatch UMLS:C2749008 Unspecified systemic lupus erythematosus, susceptibility to, 15 +OMIM:300808 skos:exactMatch HGNC:20145 Unspecified GPR143 +OMIM:300808 skos:exactMatch UMLS:C1426729 Unspecified GPR143 +OMIM:300808 skos:exactMatch HGNC_symbol:GPR143 Unspecified GPR143 +OMIM:202300 skos:exactMatch UMLS:C1859973 Unspecified adrenocortical carcinoma, hereditary +OMIM:202300 skos:exactMatch UMLS:C1859972 Unspecified adrenocortical carcinoma, hereditary +OMIM:228930 skos:exactMatch UMLS:C1856728 Unspecified fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly +OMIM:118491 skos:exactMatch UMLS:C1332757 Unspecified CHKA +OMIM:118491 skos:exactMatch HGNC_symbol:CHKA Unspecified CHKA +OMIM:118491 skos:exactMatch HGNC:1937 Unspecified CHKA +OMIM:118490 skos:exactMatch HGNC_symbol:CHAT Unspecified CHAT +OMIM:118490 skos:exactMatch HGNC:1912 Unspecified CHAT +OMIM:118490 skos:exactMatch UMLS:C1413376 Unspecified CHAT +OMIM:118493 skos:exactMatch HGNC_symbol:CHRM2 Unspecified CHRM2 +OMIM:118493 skos:exactMatch UMLS:C1413400 Unspecified CHRM2 +OMIM:118493 skos:exactMatch HGNC:1951 Unspecified CHRM2 +OMIM:118495 skos:exactMatch UMLS:C1332760 Unspecified CHRM4 +OMIM:118495 skos:exactMatch HGNC_symbol:CHRM4 Unspecified CHRM4 +OMIM:118495 skos:exactMatch HGNC:1953 Unspecified CHRM4 +OMIM:118494 skos:exactMatch UMLS:C1332759 Unspecified CHRM3 +OMIM:118494 skos:exactMatch HGNC_symbol:CHRM3 Unspecified CHRM3 +OMIM:118494 skos:exactMatch HGNC:1952 Unspecified CHRM3 +OMIM:118494 skos:exactMatch UMLS:C0033770 Unspecified CHRM3 +OMIM:118496 skos:exactMatch UMLS:C1332761 Unspecified CHRM5 +OMIM:118496 skos:exactMatch HGNC_symbol:CHRM5 Unspecified CHRM5 +OMIM:118496 skos:exactMatch HGNC:1954 Unspecified CHRM5 +OMIM:131550 skos:exactMatch UMLS:C4016033 Unspecified EGFR +OMIM:131550 skos:exactMatch UMLS:C4016032 Unspecified EGFR +OMIM:131550 skos:exactMatch UMLS:C4015130 Unspecified EGFR +OMIM:131550 skos:exactMatch HGNC:3236 Unspecified EGFR +OMIM:131550 skos:exactMatch HGNC_symbol:EGFR Unspecified EGFR +OMIM:131550 skos:exactMatch UMLS:C1414313 Unspecified EGFR +OMIM:131550 skos:exactMatch UMLS:C1851577 Unspecified EGFR +OMIM:155500 skos:exactMatch UMLS:C0265552 Unspecified macrodactyly +OMIM:118485 skos:exactMatch UMLS:C1413855 Unspecified CYP11A1 +OMIM:118485 skos:exactMatch HGNC_symbol:CYP11A1 Unspecified CYP11A1 +OMIM:118485 skos:exactMatch HGNC:2590 Unspecified CYP11A1 +OMIM:216950 skos:exactMatch UMLS:C3150274 Unspecified complement component c1r/c1s deficiency +OMIM:131440 skos:exactMatch UMLS:C1851585 Unspecified myeloproliferative disorder, chronic, with eosinophilia +OMIM:204900 skos:exactMatch UMLS:C0268399 Unspecified amyloidosis, cutaneous bullous +OMIM:131450 skos:exactMatch UMLS:C1851583 Unspecified epiblepharon of lower 51d +OMIM:167416 skos:exactMatch HGNC_symbol:PAX9 Unspecified PAX9 +OMIM:167416 skos:exactMatch UMLS:C1418278 Unspecified PAX9 +OMIM:167416 skos:exactMatch HGNC:8623 Unspecified PAX9 +OMIM:167416 skos:exactMatch UMLS:C1970291 Unspecified PAX9 +OMIM:167415 skos:exactMatch UMLS:C1833640 Unspecified PAX8 +OMIM:167415 skos:exactMatch UMLS:C1418277 Unspecified PAX8 +OMIM:167415 skos:exactMatch HGNC:8622 Unspecified PAX8 +OMIM:167415 skos:exactMatch HGNC_symbol:PAX8 Unspecified PAX8 +OMIM:167414 skos:exactMatch UMLS:C2751104 Unspecified PAX5 +OMIM:167414 skos:exactMatch UMLS:C3809874 Unspecified PAX5 +OMIM:167414 skos:exactMatch UMLS:C1335193 Unspecified PAX5 +OMIM:167414 skos:exactMatch HGNC:8619 Unspecified PAX5 +OMIM:167414 skos:exactMatch HGNC_symbol:PAX5 Unspecified PAX5 +OMIM:167413 skos:exactMatch UMLS:C4016306 Unspecified PAX4 +OMIM:167413 skos:exactMatch UMLS:C1418275 Unspecified PAX4 +OMIM:167413 skos:exactMatch UMLS:C0011860 Unspecified PAX4 +OMIM:167413 skos:exactMatch HGNC:8618 Unspecified PAX4 +OMIM:167413 skos:exactMatch UMLS:C2677132 Unspecified PAX4 +OMIM:167413 skos:exactMatch HGNC_symbol:PAX4 Unspecified PAX4 +OMIM:131460 skos:exactMatch UMLS:C1851582 Unspecified epiblepharon of upper 51d +OMIM:167411 skos:exactMatch UMLS:C1418273 Unspecified PAX1 +OMIM:167411 skos:exactMatch HGNC:8615 Unspecified PAX1 +OMIM:167411 skos:exactMatch HGNC_symbol:PAX1 Unspecified PAX1 +OMIM:167410 skos:exactMatch UMLS:C1335194 Unspecified PAX7 +OMIM:167410 skos:exactMatch HGNC:8621 Unspecified PAX7 +OMIM:167410 skos:exactMatch HGNC_symbol:PAX7 Unspecified PAX7 +OMIM:167410 skos:exactMatch UMLS:C1850988 Unspecified PAX7 +OMIM:216900 skos:exactMatch UMLS:C1857618 Unspecified achromatopsia 2 +OMIM:167405 skos:exactMatch UMLS:C1538604 Unspecified PCSK6 +OMIM:167405 skos:exactMatch HGNC_symbol:PCSK6 Unspecified PCSK6 +OMIM:167405 skos:exactMatch HGNC:8569 Unspecified PCSK6 +OMIM:167400 skos:exactMatch UMLS:C1833661 Unspecified paroxysmal extreme pain disorder +OMIM:143450 skos:exactMatch HGNC:4803 Unspecified HADHB +OMIM:143450 skos:exactMatch UMLS:C1415462 Unspecified HADHB +OMIM:143450 skos:exactMatch HGNC_symbol:HADHB Unspecified HADHB +OMIM:167409 skos:exactMatch HGNC:8616 Unspecified PAX2 +OMIM:167409 skos:exactMatch HGNC_symbol:PAX2 Unspecified PAX2 +OMIM:167409 skos:exactMatch UMLS:C1418274 Unspecified PAX2 +OMIM:180410 skos:exactMatch UMLS:C1335648 Unspecified RRM1 +OMIM:180410 skos:exactMatch HGNC_symbol:RRM1 Unspecified RRM1 +OMIM:180410 skos:exactMatch HGNC:10451 Unspecified RRM1 +OMIM:143460 skos:exactMatch HGNC_symbol:HTOR Unspecified 5-hydroxytryptamine oxygenase regulator +OMIM:143460 skos:exactMatch HGNC:5285 Unspecified 5-hydroxytryptamine oxygenase regulator +OMIM:143460 skos:exactMatch UMLS:C3887951 Unspecified 5-hydroxytryptamine oxygenase regulator +OMIM:143465 skos:exactMatch UMLS:C1263846 Unspecified attention deficit-hyperactivity disorder +OMIM:179410 skos:exactMatch HGNC:9944 Unspecified RDX +OMIM:179410 skos:exactMatch HGNC_symbol:RDX Unspecified RDX +OMIM:179410 skos:exactMatch UMLS:C1419330 Unspecified RDX +OMIM:180420 skos:exactMatch UMLS:C1419397 Unspecified RN5S1@ +OMIM:167420 skos:exactMatch HGNC_symbol:PRRX1 Unspecified PRRX1 +OMIM:167420 skos:exactMatch HGNC:9142 Unspecified PRRX1 +OMIM:167420 skos:exactMatch UMLS:C1418696 Unspecified PRRX1 +OMIM:143470 skos:exactMatch UMLS:C3149462 Unspecified hyperalphalipoproteinemia 1 +OMIM:143470 skos:exactMatch UMLS:C3149463 Unspecified hyperalphalipoproteinemia 1 +OMIM:179400 skos:exactMatch UMLS:C1867395 Unspecified radius, aplasia of, with cleft lip/palate +OMIM:192400 skos:exactMatch UMLS:C1860490 Unspecified veins, pattern of, on anterior thorax +OMIM:118510 skos:exactMatch UMLS:C1332758 Unspecified CHRM1 +OMIM:118510 skos:exactMatch HGNC_symbol:CHRM1 Unspecified CHRM1 +OMIM:118510 skos:exactMatch HGNC:1950 Unspecified CHRM1 +OMIM:118511 skos:exactMatch HGNC_symbol:CHRNA7 Unspecified CHRNA7 +OMIM:118511 skos:exactMatch HGNC:1960 Unspecified CHRNA7 +OMIM:118511 skos:exactMatch UMLS:C1413406 Unspecified CHRNA7 +OMIM:606834 skos:exactMatch HGNC_symbol:KMT2B Unspecified KMT2B +OMIM:606834 skos:exactMatch UMLS:C1847413 Unspecified KMT2B +OMIM:606834 skos:exactMatch HGNC:15840 Unspecified KMT2B +OMIM:118507 skos:exactMatch UMLS:C1413408 Unspecified CHRNB2 +OMIM:118507 skos:exactMatch HGNC:1962 Unspecified CHRNB2 +OMIM:118507 skos:exactMatch HGNC_symbol:CHRNB2 Unspecified CHRNB2 +OMIM:606835 skos:exactMatch UMLS:C1847406 Unspecified digital arthropathy-brachydactyly, familial +OMIM:606832 skos:exactMatch HGNC_symbol:ERAP1 Unspecified ERAP1 +OMIM:606832 skos:exactMatch UMLS:C1847414 Unspecified ERAP1 +OMIM:606832 skos:exactMatch HGNC:18173 Unspecified ERAP1 +OMIM:118509 skos:exactMatch UMLS:C1413410 Unspecified CHRNB4 +OMIM:118509 skos:exactMatch HGNC:1964 Unspecified CHRNB4 +OMIM:118509 skos:exactMatch HGNC_symbol:CHRNB4 Unspecified CHRNB4 +OMIM:606833 skos:exactMatch HGNC_symbol:KMT2C Unspecified KMT2C +OMIM:606833 skos:exactMatch HGNC:13726 Unspecified KMT2C +OMIM:606833 skos:exactMatch UMLS:C1422165 Unspecified KMT2C +OMIM:180450 skos:exactMatch HGNC:10082 Unspecified RNR1 +OMIM:180450 skos:exactMatch UMLS:C1335630 Unspecified RNR1 +OMIM:180450 skos:exactMatch HGNC_symbol:RNR1 Unspecified RNR1 +OMIM:118508 skos:exactMatch HGNC:1963 Unspecified CHRNB3 +OMIM:118508 skos:exactMatch UMLS:C1413409 Unspecified CHRNB3 +OMIM:118508 skos:exactMatch HGNC_symbol:CHRNB3 Unspecified CHRNB3 +OMIM:180451 skos:exactMatch HGNC:10083 Unspecified RNR2 +OMIM:180451 skos:exactMatch UMLS:C1419437 Unspecified RNR2 +OMIM:180451 skos:exactMatch HGNC_symbol:RNR2 Unspecified RNR2 +OMIM:606838 skos:exactMatch HGNC_symbol:PYCARD Unspecified PYCARD +OMIM:606838 skos:exactMatch HGNC:16608 Unspecified PYCARD +OMIM:606838 skos:exactMatch UMLS:C1538756 Unspecified PYCARD +OMIM:180452 skos:exactMatch HGNC:10084 Unspecified RNR3 +OMIM:180452 skos:exactMatch UMLS:C1419438 Unspecified RNR3 +OMIM:180452 skos:exactMatch HGNC_symbol:RNR3 Unspecified RNR3 +OMIM:606839 skos:exactMatch HGNC_symbol:CDHR5 Unspecified CDHR5 +OMIM:606839 skos:exactMatch HGNC:7521 Unspecified CDHR5 +OMIM:606839 skos:exactMatch UMLS:C1417502 Unspecified CDHR5 +OMIM:180453 skos:exactMatch HGNC:10085 Unspecified RNR4 +OMIM:180453 skos:exactMatch UMLS:C1419439 Unspecified RNR4 +OMIM:180453 skos:exactMatch HGNC_symbol:RNR4 Unspecified RNR4 +OMIM:606836 skos:exactMatch HGNC:4205 Unspecified GCNT3 +OMIM:606836 skos:exactMatch HGNC_symbol:GCNT3 Unspecified GCNT3 +OMIM:606836 skos:exactMatch UMLS:C1415023 Unspecified GCNT3 +OMIM:180454 skos:exactMatch HGNC_symbol:RNR5 Unspecified RNR5 +OMIM:180454 skos:exactMatch HGNC:10086 Unspecified RNR5 +OMIM:180454 skos:exactMatch UMLS:C1419440 Unspecified RNR5 +OMIM:606837 skos:exactMatch HGNC_symbol:RB1CC1 Unspecified RB1CC1 +OMIM:606837 skos:exactMatch HGNC:15574 Unspecified RB1CC1 +OMIM:606837 skos:exactMatch UMLS:C1423586 Unspecified RB1CC1 +OMIM:118503 skos:exactMatch UMLS:C1413403 Unspecified CHRNA3 +OMIM:118503 skos:exactMatch HGNC:1957 Unspecified CHRNA3 +OMIM:118503 skos:exactMatch UMLS:C1861063 Unspecified CHRNA3 +OMIM:118503 skos:exactMatch HGNC_symbol:CHRNA3 Unspecified CHRNA3 +OMIM:118503 skos:exactMatch UMLS:C2677571 Unspecified CHRNA3 +OMIM:118503 skos:exactMatch UMLS:C5231389 Unspecified CHRNA3 +OMIM:118502 skos:exactMatch HGNC:1956 Unspecified CHRNA2 +OMIM:118502 skos:exactMatch UMLS:C1413402 Unspecified CHRNA2 +OMIM:118502 skos:exactMatch HGNC_symbol:CHRNA2 Unspecified CHRNA2 +OMIM:118505 skos:exactMatch UMLS:C1413405 Unspecified CHRNA5 +OMIM:118505 skos:exactMatch HGNC:1959 Unspecified CHRNA5 +OMIM:118505 skos:exactMatch HGNC_symbol:CHRNA5 Unspecified CHRNA5 +OMIM:618821 skos:exactMatch UMLS:C5394173 Unspecified rhizomelic limb shortening with dysmorphic features +OMIM:118504 skos:exactMatch HGNC:1958 Unspecified CHRNA4 +OMIM:118504 skos:exactMatch UMLS:C1413404 Unspecified CHRNA4 +OMIM:118504 skos:exactMatch HGNC_symbol:CHRNA4 Unspecified CHRNA4 +OMIM:618820 skos:exactMatch UMLS:C5394158 Unspecified genitourinary and/or brain malformation syndrome +OMIM:618812 skos:exactMatch UMLS:C2681280 Unspecified C12ORF73 +OMIM:618812 skos:exactMatch HGNC_symbol:C12orf73 Unspecified C12ORF73 +OMIM:618812 skos:exactMatch HGNC:34450 Unspecified C12ORF73 +OMIM:618811 skos:exactMatch UMLS:C5394140 Unspecified mitochondrial DNA depletion syndrome 18 +OMIM:618814 skos:exactMatch HGNC_symbol:KLRF2 Unspecified KLRF2 +OMIM:618814 skos:exactMatch HGNC:37646 Unspecified KLRF2 +OMIM:618814 skos:exactMatch UMLS:C3147703 Unspecified KLRF2 +OMIM:251290 skos:exactMatch ORPHA:1229 Unspecified pseudo-torch syndrome 1 +OMIM:251290 skos:exactMatch UMLS:C3489725 Unspecified pseudo-torch syndrome 1 +OMIM:251290 skos:exactMatch UMLS:C4552078 Unspecified pseudo-torch syndrome 1 +OMIM:618813 skos:exactMatch UMLS:C1823542 Unspecified TTLL7 +OMIM:618813 skos:exactMatch HGNC:26242 Unspecified TTLL7 +OMIM:618813 skos:exactMatch HGNC_symbol:TTLL7 Unspecified TTLL7 +OMIM:618816 skos:exactMatch HGNC_symbol:CDYL2 Unspecified CDYL2 +OMIM:618816 skos:exactMatch UMLS:C1427863 Unspecified CDYL2 +OMIM:618816 skos:exactMatch HGNC:23030 Unspecified CDYL2 +OMIM:618815 skos:exactMatch UMLS:C5394150 Unspecified chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant +OMIM:618818 skos:exactMatch HGNC:21198 Unspecified HCFC1R1 +OMIM:618818 skos:exactMatch UMLS:C1427406 Unspecified HCFC1R1 +OMIM:618818 skos:exactMatch HGNC_symbol:HCFC1R1 Unspecified HCFC1R1 +OMIM:618817 skos:exactMatch HGNC_symbol:TMEM11 Unspecified TMEM11 +OMIM:618817 skos:exactMatch UMLS:C1823304 Unspecified TMEM11 +OMIM:618817 skos:exactMatch HGNC:16823 Unspecified TMEM11 +OMIM:618819 skos:exactMatch HGNC_symbol:PBXIP1 Unspecified PBXIP1 +OMIM:618819 skos:exactMatch HGNC:21199 Unspecified PBXIP1 +OMIM:618819 skos:exactMatch UMLS:C1427407 Unspecified PBXIP1 +OMIM:192430 skos:exactMatch ORPHA:567 Unspecified velocardiofacial syndrome +OMIM:192430 skos:exactMatch UMLS:C0220704 Unspecified velocardiofacial syndrome +OMIM:606841 skos:exactMatch UMLS:C1413971 Unspecified DEDD +OMIM:606841 skos:exactMatch HGNC_symbol:DEDD Unspecified DEDD +OMIM:606841 skos:exactMatch HGNC:2755 Unspecified DEDD +OMIM:606842 skos:exactMatch UMLS:C1847387 Unspecified cardioneuromyopathy with hyaline masses and nemaline rods +OMIM:606840 skos:exactMatch UMLS:C1847399 Unspecified parasomnia, sleep bruxism iia +OMIM:606840 skos:exactMatch UMLS:C3149124 Unspecified parasomnia, sleep bruxism iia +OMIM:179450 skos:exactMatch UMLS:C1867394 Unspecified ragweed sensitivity +OMIM:606823 skos:exactMatch HGNC_symbol:ADGRA2 Unspecified ADGRA2 +OMIM:606823 skos:exactMatch HGNC:17849 Unspecified ADGRA2 +OMIM:606823 skos:exactMatch UMLS:C1425130 Unspecified ADGRA2 +OMIM:606824 skos:exactMatch UMLS:C0268186 Unspecified glucose/galactose malabsorption +OMIM:606821 skos:exactMatch HGNC_symbol:COG5 Unspecified COG5 +OMIM:606821 skos:exactMatch HGNC:14857 Unspecified COG5 +OMIM:606821 skos:exactMatch UMLS:C1423002 Unspecified COG5 +OMIM:606821 skos:exactMatch UMLS:C3150876 Unspecified COG5 +OMIM:180460 skos:exactMatch HGNC_symbol:RPS6 Unspecified RPS6 +OMIM:180460 skos:exactMatch UMLS:C1419741 Unspecified RPS6 +OMIM:180460 skos:exactMatch HGNC:10429 Unspecified RPS6 +OMIM:606822 skos:exactMatch UMLS:C4310704 Unspecified POMGNT1 +OMIM:606822 skos:exactMatch HGNC:19139 Unspecified POMGNT1 +OMIM:606822 skos:exactMatch UMLS:C3151519 Unspecified POMGNT1 +OMIM:606822 skos:exactMatch UMLS:C3150412 Unspecified POMGNT1 +OMIM:606822 skos:exactMatch UMLS:C3150417 Unspecified POMGNT1 +OMIM:606822 skos:exactMatch UMLS:C1826644 Unspecified POMGNT1 +OMIM:606822 skos:exactMatch HGNC_symbol:POMGNT1 Unspecified POMGNT1 +OMIM:606827 skos:exactMatch HGNC:21013 Unspecified PLXDC2 +OMIM:606827 skos:exactMatch UMLS:C1427241 Unspecified PLXDC2 +OMIM:606827 skos:exactMatch HGNC_symbol:PLXDC2 Unspecified PLXDC2 +OMIM:180463 skos:exactMatch HGNC:10406 Unspecified RPS20A +OMIM:180463 skos:exactMatch HGNC_symbol:RPS20P3 Unspecified RPS20A +OMIM:180463 skos:exactMatch UMLS:C1419720 Unspecified RPS20A +OMIM:606828 skos:exactMatch HGNC:17174 Unspecified NAGK +OMIM:606828 skos:exactMatch UMLS:C1424796 Unspecified NAGK +OMIM:606828 skos:exactMatch HGNC_symbol:NAGK Unspecified NAGK +OMIM:606825 skos:exactMatch HGNC:21616 Unspecified TNS3 +OMIM:606825 skos:exactMatch UMLS:C1823461 Unspecified TNS3 +OMIM:606825 skos:exactMatch HGNC_symbol:TNS3 Unspecified TNS3 +OMIM:180464 skos:exactMatch HGNC:10407 Unspecified RPS20B +OMIM:180464 skos:exactMatch HGNC_symbol:RPS20P4 Unspecified RPS20B +OMIM:180464 skos:exactMatch UMLS:C1419721 Unspecified RPS20B +OMIM:180465 skos:exactMatch HGNC_symbol:RPS25 Unspecified RPS25 +OMIM:180465 skos:exactMatch HGNC:10413 Unspecified RPS25 +OMIM:180465 skos:exactMatch UMLS:C1419727 Unspecified RPS25 +OMIM:606826 skos:exactMatch UMLS:C1427201 Unspecified PLXDC1 +OMIM:606826 skos:exactMatch HGNC:20945 Unspecified PLXDC1 +OMIM:606826 skos:exactMatch HGNC_symbol:PLXDC1 Unspecified PLXDC1 +OMIM:192445 skos:exactMatch UMLS:C1860471 Unspecified ventricular extrasystoles with syncope, perodactyly, and robin sequence +OMIM:192445 skos:exactMatch ORPHA:3201 Unspecified ventricular extrasystoles with syncope, perodactyly, and robin sequence +OMIM:606829 skos:exactMatch HGNC:3951 Unspecified FXN +OMIM:606829 skos:exactMatch HGNC_symbol:FXN Unspecified FXN +OMIM:606829 skos:exactMatch UMLS:C1414812 Unspecified FXN +OMIM:618810 skos:exactMatch UMLS:C5394137 Unspecified pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +OMIM:618801 skos:exactMatch UMLS:C5394104 Unspecified ciliary dyskinesia, primary, 45 +OMIM:618801 skos:exactMatch ORPHA:244 Unspecified ciliary dyskinesia, primary, 45 +OMIM:618800 skos:exactMatch UMLS:C5394101 Unspecified spinocerebellar ataxia, autosomal recessive 28 +OMIM:618803 skos:exactMatch UMLS:C5394112 Unspecified respiratory papillomatosis, juvenile recurrent, congenital +OMIM:618802 skos:exactMatch HGNC_symbol:THG1L Unspecified THG1L +OMIM:618802 skos:exactMatch UMLS:C1823272 Unspecified THG1L +OMIM:618802 skos:exactMatch UMLS:C2986382 Unspecified THG1L +OMIM:618802 skos:exactMatch HGNC:26053 Unspecified THG1L +OMIM:618802 skos:exactMatch UMLS:C5394101 Unspecified THG1L +OMIM:275250 skos:exactMatch UMLS:C1848756 Unspecified tongue, pigmented fungiform papillae of +OMIM:618805 skos:exactMatch UMLS:C5394125 Unspecified triokinase and fmn cyclase deficiency syndrome +OMIM:618804 skos:exactMatch UMLS:C5394118 Unspecified sandestig-stefanova syndrome +OMIM:618807 skos:exactMatch UMLS:C5394134 Unspecified lipoprotein(a) quantitative trait locus +OMIM:618806 skos:exactMatch ORPHA:169095 Unspecified t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant +OMIM:618806 skos:exactMatch UMLS:C5394133 Unspecified t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant +OMIM:180466 skos:exactMatch HGNC:10312 Unspecified RPL19 +OMIM:180466 skos:exactMatch UMLS:C1335637 Unspecified RPL19 +OMIM:180466 skos:exactMatch HGNC_symbol:RPL19 Unspecified RPL19 +OMIM:618809 skos:exactMatch UMLS:C3890491 Unspecified PIGBOS1 +OMIM:618809 skos:exactMatch HGNC:50696 Unspecified PIGBOS1 +OMIM:618809 skos:exactMatch HGNC_symbol:PIGBOS1 Unspecified PIGBOS1 +OMIM:618808 skos:exactMatch UMLS:C5394135 Unspecified intellectual developmental disorder with poor growth and with or without seizures or ataxia +OMIM:180467 skos:exactMatch UMLS:C1419656 Unspecified RPL30 +OMIM:180467 skos:exactMatch HGNC:10333 Unspecified RPL30 +OMIM:180467 skos:exactMatch HGNC_symbol:RPL30 Unspecified RPL30 +OMIM:180468 skos:exactMatch UMLS:C1419668 Unspecified RPL35A +OMIM:180468 skos:exactMatch HGNC_symbol:RPL35A Unspecified RPL35A +OMIM:180468 skos:exactMatch HGNC:10345 Unspecified RPL35A +OMIM:180469 skos:exactMatch UMLS:C1419669 Unspecified RPL36AL +OMIM:180469 skos:exactMatch HGNC:10346 Unspecified RPL36AL +OMIM:180469 skos:exactMatch HGNC_symbol:RPL36AL Unspecified RPL36AL +OMIM:606830 skos:exactMatch HGNC_symbol:AGTPBP1 Unspecified AGTPBP1 +OMIM:606830 skos:exactMatch UMLS:C1424854 Unspecified AGTPBP1 +OMIM:606830 skos:exactMatch HGNC:17258 Unspecified AGTPBP1 +OMIM:606831 skos:exactMatch HGNC:16412 Unspecified NLRC4 +OMIM:606831 skos:exactMatch UMLS:C1826433 Unspecified NLRC4 +OMIM:606831 skos:exactMatch HGNC_symbol:NLRC4 Unspecified NLRC4 +OMIM:606812 skos:exactMatch UMLS:C0342770 Unspecified fumarase deficiency +OMIM:606812 skos:exactMatch ORPHA:24 Unspecified fumarase deficiency +OMIM:606812 skos:exactMatch UMLS:C2936826 Unspecified fumarase deficiency +OMIM:300890 skos:exactMatch UMLS:C1424805 Unspecified ASB9 +OMIM:300890 skos:exactMatch HGNC_symbol:ASB9 Unspecified ASB9 +OMIM:300890 skos:exactMatch HGNC:17184 Unspecified ASB9 +OMIM:606813 skos:exactMatch UMLS:C1420177 Unspecified SLC2A6 +OMIM:606813 skos:exactMatch HGNC_symbol:SLC2A6 Unspecified SLC2A6 +OMIM:606813 skos:exactMatch HGNC:11011 Unspecified SLC2A6 +OMIM:606810 skos:exactMatch HGNC:9453 Unspecified PRODH +OMIM:606810 skos:exactMatch HGNC_symbol:PRODH Unspecified PRODH +OMIM:606810 skos:exactMatch UMLS:C1418945 Unspecified PRODH +OMIM:300892 skos:exactMatch HGNC:45092 Unspecified LINC00850 +OMIM:300892 skos:exactMatch HGNC_symbol:LINC00850 Unspecified LINC00850 +OMIM:300892 skos:exactMatch UMLS:C3539349 Unspecified LINC00850 +OMIM:606811 skos:exactMatch HGNC:406 Unspecified ALDH4A1 +OMIM:606811 skos:exactMatch HGNC_symbol:ALDH4A1 Unspecified ALDH4A1 +OMIM:606811 skos:exactMatch UMLS:C1412337 Unspecified ALDH4A1 +OMIM:300891 skos:exactMatch UMLS:C1426392 Unspecified ASB12 +OMIM:300891 skos:exactMatch HGNC:19763 Unspecified ASB12 +OMIM:300891 skos:exactMatch HGNC_symbol:ASB12 Unspecified ASB12 +OMIM:606816 skos:exactMatch UMLS:C1333565 Unspecified SIDT1 +OMIM:606816 skos:exactMatch HGNC_symbol:SIDT1 Unspecified SIDT1 +OMIM:606816 skos:exactMatch HGNC:25967 Unspecified SIDT1 +OMIM:300894 skos:exactMatch UMLS:C3550973 Unspecified neurodegeneration with brain iron accumulation 5 +OMIM:300893 skos:exactMatch HGNC_symbol:MIR502 Unspecified MIR502 +OMIM:300893 skos:exactMatch HGNC:32136 Unspecified MIR502 +OMIM:300893 skos:exactMatch UMLS:C1826056 Unspecified MIR502 +OMIM:180430 skos:exactMatch UMLS:C1419625 Unspecified RPIA +OMIM:180430 skos:exactMatch HGNC_symbol:RPIA Unspecified RPIA +OMIM:180430 skos:exactMatch HGNC:10297 Unspecified RPIA +OMIM:180430 skos:exactMatch UMLS:C1291609 Unspecified RPIA +OMIM:606817 skos:exactMatch HGNC:21290 Unspecified PTCRA +OMIM:606817 skos:exactMatch UMLS:C1427472 Unspecified PTCRA +OMIM:606817 skos:exactMatch HGNC_symbol:PTCRA Unspecified PTCRA +OMIM:300896 skos:exactMatch ORPHA:356961 Unspecified congenital disorder of glycosylation, iia iim +OMIM:300896 skos:exactMatch UMLS:C3806688 Unspecified congenital disorder of glycosylation, iia iim +OMIM:606814 skos:exactMatch UMLS:C1418890 Unspecified PRG3 +OMIM:606814 skos:exactMatch HGNC_symbol:PRG3 Unspecified PRG3 +OMIM:606814 skos:exactMatch HGNC:9363 Unspecified PRG3 +OMIM:300895 skos:exactMatch UMLS:C3698541 Unspecified ohdo syndrome, X-linked +OMIM:300895 skos:exactMatch ORPHA:293707 Unspecified ohdo syndrome, X-linked +OMIM:606815 skos:exactMatch HGNC:18696 Unspecified CITED4 +OMIM:606815 skos:exactMatch HGNC_symbol:CITED4 Unspecified CITED4 +OMIM:606815 skos:exactMatch UMLS:C1425716 Unspecified CITED4 +OMIM:300898 skos:exactMatch HGNC_symbol:CDR1-AS Unspecified CDR1AS +OMIM:300898 skos:exactMatch HGNC:48926 Unspecified CDR1AS +OMIM:300898 skos:exactMatch UMLS:C3806701 Unspecified CDR1AS +OMIM:300897 skos:exactMatch UMLS:C1537464 Unspecified ZC4H2 +OMIM:300897 skos:exactMatch HGNC_symbol:ZC4H2 Unspecified ZC4H2 +OMIM:300897 skos:exactMatch UMLS:C0796200 Unspecified ZC4H2 +OMIM:300897 skos:exactMatch UMLS:C5393303 Unspecified ZC4H2 +OMIM:300897 skos:exactMatch HGNC:24931 Unspecified ZC4H2 +OMIM:606818 skos:exactMatch HGNC:3008 Unspecified DPP3 +OMIM:606818 skos:exactMatch UMLS:C1414140 Unspecified DPP3 +OMIM:606818 skos:exactMatch HGNC_symbol:DPP3 Unspecified DPP3 +OMIM:300899 skos:exactMatch HGNC:10350 Unspecified RPL39 +OMIM:300899 skos:exactMatch HGNC_symbol:RPL39 Unspecified RPL39 +OMIM:300899 skos:exactMatch UMLS:C1419673 Unspecified RPL39 +OMIM:606819 skos:exactMatch HGNC:16490 Unspecified DPP8 +OMIM:606819 skos:exactMatch HGNC_symbol:DPP8 Unspecified DPP8 +OMIM:606819 skos:exactMatch UMLS:C1424322 Unspecified DPP8 +OMIM:251270 skos:exactMatch UMLS:C3278481 Unspecified microcephaly and chorioretinopathy, autosomal recessive, 1 +OMIM:312870 skos:exactMatch UMLS:C0796154 Unspecified simpson-golabi-behmel syndrome, iia 1 +OMIM:312870 skos:exactMatch ORPHA:373 Unspecified simpson-golabi-behmel syndrome, iia 1 +OMIM:275240 skos:exactMatch UMLS:C0276742 Unspecified tinea imbricata, susceptibility to +OMIM:180435 skos:exactMatch HGNC_symbol:RNASEL Unspecified RNASEL +OMIM:180435 skos:exactMatch UMLS:C1419413 Unspecified RNASEL +OMIM:180435 skos:exactMatch HGNC:10050 Unspecified RNASEL +OMIM:606820 skos:exactMatch UMLS:C1423949 Unspecified GLRX2 +OMIM:606820 skos:exactMatch HGNC:16065 Unspecified GLRX2 +OMIM:606820 skos:exactMatch HGNC_symbol:GLRX2 Unspecified GLRX2 +OMIM:606801 skos:exactMatch HGNC_symbol:MAEA Unspecified MAEA +OMIM:606801 skos:exactMatch HGNC:13731 Unspecified MAEA +OMIM:606801 skos:exactMatch UMLS:C1422169 Unspecified MAEA +OMIM:606802 skos:exactMatch UMLS:C1420358 Unspecified SPIB +OMIM:606802 skos:exactMatch HGNC_symbol:SPIB Unspecified SPIB +OMIM:606802 skos:exactMatch HGNC:11242 Unspecified SPIB +OMIM:606800 skos:exactMatch HGNC_symbol:GAA Unspecified GAA +OMIM:606800 skos:exactMatch UMLS:C1414899 Unspecified GAA +OMIM:606800 skos:exactMatch HGNC:4065 Unspecified GAA +OMIM:180440 skos:exactMatch HGNC:10044 Unspecified RNASE1 +OMIM:180440 skos:exactMatch HGNC_symbol:RNASE1 Unspecified RNASE1 +OMIM:180440 skos:exactMatch UMLS:C1419407 Unspecified RNASE1 +OMIM:606805 skos:exactMatch HGNC_symbol:GOLIM4 Unspecified GOLIM4 +OMIM:606805 skos:exactMatch HGNC:15448 Unspecified GOLIM4 +OMIM:606805 skos:exactMatch UMLS:C1423494 Unspecified GOLIM4 +OMIM:606806 skos:exactMatch HGNC:3974 Unspecified FTCD +OMIM:606806 skos:exactMatch HGNC_symbol:FTCD Unspecified FTCD +OMIM:606806 skos:exactMatch UMLS:C1414832 Unspecified FTCD +OMIM:606806 skos:exactMatch UMLS:C0268609 Unspecified FTCD +OMIM:606803 skos:exactMatch HGNC_symbol:ACOT11 Unspecified ACOT11 +OMIM:606803 skos:exactMatch HGNC:18156 Unspecified ACOT11 +OMIM:606803 skos:exactMatch UMLS:C1825834 Unspecified ACOT11 +OMIM:606803 skos:exactMatch UMLS:C1847464 Unspecified ACOT11 +OMIM:606804 skos:exactMatch HGNC:15451 Unspecified GOLM1 +OMIM:606804 skos:exactMatch HGNC_symbol:GOLM1 Unspecified GOLM1 +OMIM:606804 skos:exactMatch UMLS:C1423497 Unspecified GOLM1 +OMIM:606809 skos:exactMatch UMLS:C1423499 Unspecified ACBD3 +OMIM:606809 skos:exactMatch HGNC_symbol:ACBD3 Unspecified ACBD3 +OMIM:606809 skos:exactMatch HGNC:15453 Unspecified ACBD3 +OMIM:606807 skos:exactMatch HGNC:17616 Unspecified IL17RD +OMIM:606807 skos:exactMatch UMLS:C1425013 Unspecified IL17RD +OMIM:606807 skos:exactMatch HGNC_symbol:IL17RD Unspecified IL17RD +OMIM:606808 skos:exactMatch UMLS:C1417564 Unspecified MYO3A +OMIM:606808 skos:exactMatch HGNC_symbol:MYO3A Unspecified MYO3A +OMIM:606808 skos:exactMatch HGNC:7601 Unspecified MYO3A +OMIM:251280 skos:exactMatch UMLS:C4538630 Unspecified diencephalic-mesencephalic junction dysplasia syndrome 1 +OMIM:275230 skos:exactMatch UMLS:C1848758 Unspecified tibia, absence of, with congenital deafness +OMIM:106500 skos:exactMatch UMLS:C0234906 Unspecified annular erythema +OMIM:604215 skos:exactMatch HGNC:6063 Unspecified ING2 +OMIM:604215 skos:exactMatch HGNC_symbol:ING2 Unspecified ING2 +OMIM:604215 skos:exactMatch UMLS:C1416437 Unspecified ING2 +OMIM:606878 skos:exactMatch UMLS:C1332093 Unspecified ANP32D +OMIM:606878 skos:exactMatch HGNC_symbol:ANP32D Unspecified ANP32D +OMIM:606878 skos:exactMatch HGNC:16676 Unspecified ANP32D +OMIM:604214 skos:exactMatch UMLS:C1537503 Unspecified KRIT1 +OMIM:604214 skos:exactMatch HGNC:1573 Unspecified KRIT1 +OMIM:604214 skos:exactMatch HGNC_symbol:KRIT1 Unspecified KRIT1 +OMIM:606879 skos:exactMatch UMLS:C4551478 Unspecified PHGDH +OMIM:606879 skos:exactMatch HGNC:8923 Unspecified PHGDH +OMIM:606879 skos:exactMatch UMLS:C1418531 Unspecified PHGDH +OMIM:606879 skos:exactMatch HGNC_symbol:PHGDH Unspecified PHGDH +OMIM:606879 skos:exactMatch UMLS:C1866174 Unspecified PHGDH +OMIM:606876 skos:exactMatch HGNC_symbol:PITPNB Unspecified PITPNB +OMIM:606876 skos:exactMatch UMLS:C1418593 Unspecified PITPNB +OMIM:606876 skos:exactMatch HGNC:9002 Unspecified PITPNB +OMIM:604217 skos:exactMatch HGNC_symbol:SLC34A2 Unspecified SLC34A2 +OMIM:604217 skos:exactMatch HGNC:11020 Unspecified SLC34A2 +OMIM:604217 skos:exactMatch UMLS:C1420186 Unspecified SLC34A2 +OMIM:606877 skos:exactMatch UMLS:C1332091 Unspecified ANP32C +OMIM:606877 skos:exactMatch HGNC_symbol:ANP32C Unspecified ANP32C +OMIM:606877 skos:exactMatch HGNC:16675 Unspecified ANP32C +OMIM:604216 skos:exactMatch UMLS:C1420112 Unspecified SLC17A4 +OMIM:604216 skos:exactMatch HGNC_symbol:SLC17A4 Unspecified SLC17A4 +OMIM:604216 skos:exactMatch HGNC:10932 Unspecified SLC17A4 +OMIM:604219 skos:exactMatch UMLS:C3888098 Unspecified cataract 9, multiple types +OMIM:604219 skos:exactMatch UMLS:C1858679 Unspecified cataract 9, multiple types +OMIM:604218 skos:exactMatch UMLS:C1858680 Unspecified encephalopathy, familial, with neuroserpin inclusion bodies +OMIM:618861 skos:exactMatch HGNC:34550 Unspecified IGLON5 +OMIM:618861 skos:exactMatch HGNC_symbol:IGLON5 Unspecified IGLON5 +OMIM:618861 skos:exactMatch UMLS:C2681611 Unspecified IGLON5 +OMIM:618860 skos:exactMatch HGNC_symbol:C1orf87 Unspecified C1ORF87 +OMIM:618860 skos:exactMatch UMLS:C1823707 Unspecified C1ORF87 +OMIM:618860 skos:exactMatch HGNC:28547 Unspecified C1ORF87 +OMIM:616200 skos:exactMatch UMLS:C4015461 Unspecified ruijs-aalfs syndrome +OMIM:618863 skos:exactMatch UMLS:C5394315 Unspecified retinal dystrophy with leukodystrophy +OMIM:618862 skos:exactMatch UMLS:C5394312 Unspecified neurodevelopmental disorder with hypotonia, microcephaly, and seizures +OMIM:616201 skos:exactMatch UMLS:C4015474 Unspecified chronic atrial and intestinal dysrhythmia +OMIM:618865 skos:exactMatch HGNC:21638 Unspecified CEP85L +OMIM:618865 skos:exactMatch HGNC_symbol:CEP85L Unspecified CEP85L +OMIM:618865 skos:exactMatch UMLS:C3469888 Unspecified CEP85L +OMIM:618865 skos:exactMatch UMLS:C5394354 Unspecified CEP85L +OMIM:616202 skos:exactMatch UMLS:C4015495 Unspecified cerebellofaciodental syndrome +OMIM:616203 skos:exactMatch HGNC:26907 Unspecified SLC38A9 +OMIM:616203 skos:exactMatch HGNC_symbol:SLC38A9 Unspecified SLC38A9 +OMIM:616203 skos:exactMatch UMLS:C2239932 Unspecified SLC38A9 +OMIM:618864 skos:exactMatch UMLS:C1824489 Unspecified C19ORF48 +OMIM:618864 skos:exactMatch HGNC:29667 Unspecified C19ORF48 +OMIM:618864 skos:exactMatch HGNC_symbol:C19orf48 Unspecified C19ORF48 +OMIM:180490 skos:exactMatch UMLS:C1419698 Unspecified RPN2 +OMIM:180490 skos:exactMatch HGNC_symbol:RPN2 Unspecified RPN2 +OMIM:180490 skos:exactMatch HGNC:10382 Unspecified RPN2 +OMIM:618856 skos:exactMatch UMLS:C5394296 Unspecified diabetes mellitus, permanent neonatal, 2 +OMIM:618856 skos:exactMatch UMLS:C5394597 Unspecified diabetes mellitus, permanent neonatal, 2 +OMIM:618856 skos:exactMatch ORPHA:99885 Unspecified diabetes mellitus, permanent neonatal, 2 +OMIM:618855 skos:exactMatch UMLS:C5394293 Unspecified combined oxidative phosphorylation deficiency 44 +OMIM:618855 skos:exactMatch ORPHA:166105 Unspecified combined oxidative phosphorylation deficiency 44 +OMIM:618858 skos:exactMatch UMLS:C5394307 Unspecified diabetes mellitus, permanent neonatal, 4 +OMIM:618858 skos:exactMatch ORPHA:99885 Unspecified diabetes mellitus, permanent neonatal, 4 +OMIM:618857 skos:exactMatch UMLS:C5394303 Unspecified diabetes mellitus, permanent neonatal, 3 +OMIM:618857 skos:exactMatch UMLS:C5394304 Unspecified diabetes mellitus, permanent neonatal, 3 +OMIM:618857 skos:exactMatch ORPHA:99885 Unspecified diabetes mellitus, permanent neonatal, 3 +OMIM:275220 skos:exactMatch UMLS:C0265633 Unspecified tibial hemimelia +OMIM:618859 skos:exactMatch UMLS:C5394311 Unspecified neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities +OMIM:251250 skos:exactMatch UMLS:C0796066 Unspecified microcephaly with cervical spine fusion anomalies +OMIM:606881 skos:exactMatch HGNC_symbol:FHOD1 Unspecified FHOD1 +OMIM:606881 skos:exactMatch HGNC:17905 Unspecified FHOD1 +OMIM:606881 skos:exactMatch UMLS:C1425164 Unspecified FHOD1 +OMIM:606882 skos:exactMatch UMLS:C0019202 Unspecified ATP7B +OMIM:606882 skos:exactMatch HGNC_symbol:ATP7B Unspecified ATP7B +OMIM:606882 skos:exactMatch HGNC:870 Unspecified ATP7B +OMIM:606882 skos:exactMatch UMLS:C1412689 Unspecified ATP7B +OMIM:604220 skos:exactMatch HGNC_symbol:ARPC1A Unspecified ARPC1A +OMIM:604220 skos:exactMatch HGNC:703 Unspecified ARPC1A +OMIM:604220 skos:exactMatch UMLS:C1412545 Unspecified ARPC1A +OMIM:251255 skos:exactMatch UMLS:C0796063 Unspecified jawad syndrome +OMIM:606880 skos:exactMatch HGNC:1510 Unspecified CASP8AP2 +OMIM:606880 skos:exactMatch UMLS:C1413133 Unspecified CASP8AP2 +OMIM:606880 skos:exactMatch HGNC_symbol:CASP8AP2 Unspecified CASP8AP2 +OMIM:606885 skos:exactMatch HGNC_symbol:ACADS Unspecified ACADS +OMIM:606885 skos:exactMatch HGNC:90 Unspecified ACADS +OMIM:606885 skos:exactMatch UMLS:C1412108 Unspecified ACADS +OMIM:604222 skos:exactMatch HGNC:170 Unspecified ACTR3 +OMIM:604222 skos:exactMatch HGNC_symbol:ACTR3 Unspecified ACTR3 +OMIM:604222 skos:exactMatch UMLS:C1412172 Unspecified ACTR3 +OMIM:604221 skos:exactMatch HGNC:169 Unspecified ACTR2 +OMIM:604221 skos:exactMatch HGNC_symbol:ACTR2 Unspecified ACTR2 +OMIM:604221 skos:exactMatch UMLS:C1412171 Unspecified ACTR2 +OMIM:606886 skos:exactMatch HGNC_symbol:RBM6 Unspecified RBM6 +OMIM:606886 skos:exactMatch UMLS:C1335604 Unspecified RBM6 +OMIM:606886 skos:exactMatch HGNC:9903 Unspecified RBM6 +OMIM:606883 skos:exactMatch UMLS:C1843256 Unspecified IRAK4 +OMIM:606883 skos:exactMatch HGNC:17967 Unspecified IRAK4 +OMIM:606883 skos:exactMatch UMLS:C1334137 Unspecified IRAK4 +OMIM:606883 skos:exactMatch HGNC_symbol:IRAK4 Unspecified IRAK4 +OMIM:604224 skos:exactMatch HGNC:705 Unspecified ARPC2 +OMIM:604224 skos:exactMatch HGNC_symbol:ARPC2 Unspecified ARPC2 +OMIM:604224 skos:exactMatch UMLS:C1412547 Unspecified ARPC2 +OMIM:604223 skos:exactMatch HGNC_symbol:ARPC1B Unspecified ARPC1B +OMIM:604223 skos:exactMatch UMLS:C4540232 Unspecified ARPC1B +OMIM:604223 skos:exactMatch HGNC:704 Unspecified ARPC1B +OMIM:604223 skos:exactMatch UMLS:C1412546 Unspecified ARPC1B +OMIM:606884 skos:exactMatch HGNC_symbol:RBM5 Unspecified RBM5 +OMIM:606884 skos:exactMatch HGNC:9902 Unspecified RBM5 +OMIM:606884 skos:exactMatch UMLS:C1419301 Unspecified RBM5 +OMIM:606867 skos:exactMatch UMLS:C1424530 Unspecified GORASP1 +OMIM:606867 skos:exactMatch HGNC_symbol:GORASP1 Unspecified GORASP1 +OMIM:606867 skos:exactMatch HGNC:16769 Unspecified GORASP1 +OMIM:604204 skos:exactMatch HGNC:11432 Unspecified STX17 +OMIM:604204 skos:exactMatch HGNC_symbol:STX17 Unspecified STX17 +OMIM:604204 skos:exactMatch UMLS:C1420497 Unspecified STX17 +OMIM:606868 skos:exactMatch HGNC:14402 Unspecified HIPK2 +OMIM:606868 skos:exactMatch HGNC_symbol:HIPK2 Unspecified HIPK2 +OMIM:606868 skos:exactMatch UMLS:C1422622 Unspecified HIPK2 +OMIM:604203 skos:exactMatch HGNC_symbol:STX8 Unspecified STX8 +OMIM:604203 skos:exactMatch HGNC:11443 Unspecified STX8 +OMIM:604203 skos:exactMatch UMLS:C1420505 Unspecified STX8 +OMIM:606865 skos:exactMatch HGNC:4020 Unspecified FUT9 +OMIM:606865 skos:exactMatch HGNC_symbol:FUT9 Unspecified FUT9 +OMIM:606865 skos:exactMatch UMLS:C1414870 Unspecified FUT9 +OMIM:604206 skos:exactMatch UMLS:C1413676 Unspecified CPNE2 +OMIM:604206 skos:exactMatch HGNC:2315 Unspecified CPNE2 +OMIM:604206 skos:exactMatch HGNC_symbol:CPNE2 Unspecified CPNE2 +OMIM:179490 skos:exactMatch HGNC_symbol:RAB3A Unspecified RAB3A +OMIM:179490 skos:exactMatch HGNC:9777 Unspecified RAB3A +OMIM:179490 skos:exactMatch UMLS:C1419206 Unspecified RAB3A +OMIM:606866 skos:exactMatch UMLS:C1412875 Unspecified MRPL49 +OMIM:606866 skos:exactMatch HGNC_symbol:MRPL49 Unspecified MRPL49 +OMIM:606866 skos:exactMatch HGNC:1176 Unspecified MRPL49 +OMIM:604205 skos:exactMatch UMLS:C1413675 Unspecified CPNE1 +OMIM:604205 skos:exactMatch HGNC:2314 Unspecified CPNE1 +OMIM:604205 skos:exactMatch HGNC_symbol:CPNE1 Unspecified CPNE1 +OMIM:604208 skos:exactMatch UMLS:C1413678 Unspecified CPNE4 +OMIM:604208 skos:exactMatch HGNC:2317 Unspecified CPNE4 +OMIM:604208 skos:exactMatch HGNC_symbol:CPNE4 Unspecified CPNE4 +OMIM:604207 skos:exactMatch UMLS:C1413677 Unspecified CPNE3 +OMIM:604207 skos:exactMatch HGNC:2316 Unspecified CPNE3 +OMIM:604207 skos:exactMatch HGNC_symbol:CPNE3 Unspecified CPNE3 +OMIM:606869 skos:exactMatch HGNC_symbol:HEXA Unspecified HEXA +OMIM:606869 skos:exactMatch HGNC:4878 Unspecified HEXA +OMIM:606869 skos:exactMatch UMLS:C1415522 Unspecified HEXA +OMIM:604209 skos:exactMatch HGNC_symbol:CPNE5 Unspecified CPNE5 +OMIM:604209 skos:exactMatch UMLS:C1413679 Unspecified CPNE5 +OMIM:604209 skos:exactMatch HGNC:2318 Unspecified CPNE5 +OMIM:618850 skos:exactMatch UMLS:C5394277 Unspecified hypervalinemia and hyperleucine-isoleucinemia +OMIM:618852 skos:exactMatch UMLS:C5394286 Unspecified autoinflammation with episodic fever and lymphadenopathy +OMIM:618851 skos:exactMatch UMLS:C5394284 Unspecified combined oxidative phosphorylation deficiency 43 +OMIM:618854 skos:exactMatch HGNC_symbol:SPCS3 Unspecified SPCS3 +OMIM:618854 skos:exactMatch UMLS:C1539819 Unspecified SPCS3 +OMIM:618854 skos:exactMatch HGNC:26212 Unspecified SPCS3 +OMIM:618853 skos:exactMatch UMLS:C5394289 Unspecified anauxetic dysplasia 3 +OMIM:618853 skos:exactMatch ORPHA:93347 Unspecified anauxetic dysplasia 3 +OMIM:251260 skos:exactMatch UMLS:C1855057 Unspecified nijmegen breakage syndrome +OMIM:251260 skos:exactMatch UMLS:C0398791 Unspecified nijmegen breakage syndrome +OMIM:618845 skos:exactMatch ORPHA:521438 Unspecified vertebral, cardiac, renal, and limb defects syndrome 3 +OMIM:618845 skos:exactMatch UMLS:C5394250 Unspecified vertebral, cardiac, renal, and limb defects syndrome 3 +OMIM:618844 skos:exactMatch HGNC_symbol:L3MBTL3 Unspecified L3MBTL3 +OMIM:618844 skos:exactMatch HGNC:23035 Unspecified L3MBTL3 +OMIM:618844 skos:exactMatch UMLS:C1427866 Unspecified L3MBTL3 +OMIM:618847 skos:exactMatch UMLS:C5394265 Unspecified immunodeficiency 66 +OMIM:618846 skos:exactMatch UMLS:C5394263 Unspecified diets-jongmans syndrome +OMIM:618849 skos:exactMatch UMLS:C5394274 Unspecified bone marrow failure syndrome 6 +OMIM:618848 skos:exactMatch UMLS:C5394268 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 26 +OMIM:275210 skos:exactMatch UMLS:C0406585 Unspecified restrictive dermopathy 1 +OMIM:606870 skos:exactMatch UMLS:C1422840 Unspecified JAM2 +OMIM:606870 skos:exactMatch HGNC_symbol:JAM2 Unspecified JAM2 +OMIM:606870 skos:exactMatch HGNC:14686 Unspecified JAM2 +OMIM:606870 skos:exactMatch UMLS:C5394199 Unspecified JAM2 +OMIM:606871 skos:exactMatch UMLS:C1423559 Unspecified JAM3 +OMIM:606871 skos:exactMatch UMLS:C3151000 Unspecified JAM3 +OMIM:606871 skos:exactMatch HGNC_symbol:JAM3 Unspecified JAM3 +OMIM:606871 skos:exactMatch HGNC:15532 Unspecified JAM3 +OMIM:606874 skos:exactMatch UMLS:C1969837 Unspecified hirschsprung disease, susceptibility to, 6 +OMIM:604211 skos:exactMatch UMLS:C1858696 Unspecified hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly +OMIM:604210 skos:exactMatch HGNC_symbol:CRB1 Unspecified CRB1 +OMIM:604210 skos:exactMatch HGNC:2343 Unspecified CRB1 +OMIM:604210 skos:exactMatch UMLS:C1413701 Unspecified CRB1 +OMIM:606875 skos:exactMatch UMLS:C1969836 Unspecified hirschsprung disease, susceptibility to, 7 +OMIM:606872 skos:exactMatch HGNC_symbol:CBLL1 Unspecified CBLL1 +OMIM:606872 skos:exactMatch HGNC:21225 Unspecified CBLL1 +OMIM:606872 skos:exactMatch UMLS:C1427430 Unspecified CBLL1 +OMIM:604213 skos:exactMatch UMLS:C1858695 Unspecified chudley-mccullough syndrome +OMIM:606873 skos:exactMatch HGNC_symbol:HEXB Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C4310887 Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C4310888 Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C4310842 Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C4016989 Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C0036161 Unspecified HEXB +OMIM:606873 skos:exactMatch HGNC:4879 Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C0751490 Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C0751489 Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C1849320 Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C1849322 Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C1849321 Unspecified HEXB +OMIM:606873 skos:exactMatch UMLS:C1415523 Unspecified HEXB +OMIM:604212 skos:exactMatch HGNC_symbol:PARN Unspecified PARN +OMIM:604212 skos:exactMatch UMLS:C1418272 Unspecified PARN +OMIM:604212 skos:exactMatch HGNC:8609 Unspecified PARN +OMIM:606856 skos:exactMatch UMLS:C1847351 Unspecified pancreatic cancer, susceptibility to, 1 +OMIM:606857 skos:exactMatch HGNC_symbol:GCLC Unspecified GCLC +OMIM:606857 skos:exactMatch HGNC:4311 Unspecified GCLC +OMIM:606857 skos:exactMatch UMLS:C1415097 Unspecified GCLC +OMIM:180470 skos:exactMatch UMLS:C1419697 Unspecified RPN1 +OMIM:180470 skos:exactMatch HGNC_symbol:RPN1 Unspecified RPN1 +OMIM:180470 skos:exactMatch HGNC:10381 Unspecified RPN1 +OMIM:606854 skos:exactMatch UMLS:C1847352 Unspecified polymicrogyria, bilateral frontoparietal +OMIM:180471 skos:exactMatch UMLS:C1419700 Unspecified RPS11 +OMIM:180471 skos:exactMatch HGNC:10384 Unspecified RPS11 +OMIM:180471 skos:exactMatch HGNC_symbol:RPS11 Unspecified RPS11 +OMIM:180472 skos:exactMatch UMLS:C1419713 Unspecified RPS17 +OMIM:180472 skos:exactMatch HGNC:10397 Unspecified RPS17 +OMIM:180472 skos:exactMatch HGNC_symbol:RPS17 Unspecified RPS17 +OMIM:606855 skos:exactMatch HGNC_symbol:RLN3 Unspecified RLN3 +OMIM:606855 skos:exactMatch UMLS:C1424771 Unspecified RLN3 +OMIM:606855 skos:exactMatch HGNC:17135 Unspecified RLN3 +OMIM:180473 skos:exactMatch UMLS:C1419717 Unspecified RPS18 +OMIM:180473 skos:exactMatch HGNC:10401 Unspecified RPS18 +OMIM:180473 skos:exactMatch HGNC_symbol:RPS18 Unspecified RPS18 +OMIM:180474 skos:exactMatch UMLS:C1419639 Unspecified RPL22 +OMIM:180474 skos:exactMatch HGNC_symbol:RPL22 Unspecified RPL22 +OMIM:180474 skos:exactMatch HGNC:10315 Unspecified RPL22 +OMIM:180475 skos:exactMatch HGNC_symbol:RPL12 Unspecified RPL12 +OMIM:180475 skos:exactMatch UMLS:C1419629 Unspecified RPL12 +OMIM:180475 skos:exactMatch HGNC:10302 Unspecified RPL12 +OMIM:180476 skos:exactMatch HGNC_symbol:RPS13 Unspecified RPS13 +OMIM:180476 skos:exactMatch HGNC:10386 Unspecified RPS13 +OMIM:180476 skos:exactMatch UMLS:C1419702 Unspecified RPS13 +OMIM:265880 skos:exactMatch UMLS:C1849523 Unspecified pyknoachondrogenesis +OMIM:618841 skos:exactMatch UMLS:C5394246 Unspecified hypogonadotropic hypogonadism 25 with anosmia +OMIM:618841 skos:exactMatch ORPHA:478 Unspecified hypogonadotropic hypogonadism 25 with anosmia +OMIM:618840 skos:exactMatch UMLS:C5394241 Unspecified alopecia-intellectual disability syndrome 4 +OMIM:618840 skos:exactMatch ORPHA:2850 Unspecified alopecia-intellectual disability syndrome 4 +OMIM:618843 skos:exactMatch HGNC_symbol:LAYN Unspecified LAYN +OMIM:618843 skos:exactMatch UMLS:C1825794 Unspecified LAYN +OMIM:618843 skos:exactMatch HGNC:29471 Unspecified LAYN +OMIM:618842 skos:exactMatch UMLS:C1539675 Unspecified HORMAD2 +OMIM:618842 skos:exactMatch HGNC_symbol:HORMAD2 Unspecified HORMAD2 +OMIM:618842 skos:exactMatch HGNC:28383 Unspecified HORMAD2 +OMIM:618834 skos:exactMatch HGNC:33772 Unspecified LAMTOR4 +OMIM:618834 skos:exactMatch HGNC_symbol:LAMTOR4 Unspecified LAMTOR4 +OMIM:618834 skos:exactMatch UMLS:C3541686 Unspecified LAMTOR4 +OMIM:618833 skos:exactMatch HGNC_symbol:RALGAPB Unspecified RALGAPB +OMIM:618833 skos:exactMatch UMLS:C1825680 Unspecified RALGAPB +OMIM:618833 skos:exactMatch HGNC:29221 Unspecified RALGAPB +OMIM:618836 skos:exactMatch HGNC_symbol:RALGAPA2 Unspecified RALGAPA2 +OMIM:618836 skos:exactMatch UMLS:C1424084 Unspecified RALGAPA2 +OMIM:618836 skos:exactMatch HGNC:16207 Unspecified RALGAPA2 +OMIM:618835 skos:exactMatch UMLS:C5394232 Unspecified combined oxidative phosphorylation deficiency 40 +OMIM:618835 skos:exactMatch ORPHA:570491 Unspecified combined oxidative phosphorylation deficiency 40 +OMIM:618838 skos:exactMatch UMLS:C5394236 Unspecified combined oxidative phosphorylation deficiency 41 +OMIM:251230 skos:exactMatch UMLS:C1855079 Unspecified microcephaly-micromelia syndrome +OMIM:618837 skos:exactMatch HGNC_symbol:LAPTM4A Unspecified LAPTM4A +OMIM:618837 skos:exactMatch HGNC:6924 Unspecified LAPTM4A +OMIM:618837 skos:exactMatch UMLS:C1417056 Unspecified LAPTM4A +OMIM:275200 skos:exactMatch UMLS:C3493776 Unspecified hypothyroidism, congenital, nongoitrous, 1 +OMIM:618839 skos:exactMatch UMLS:C5394237 Unspecified combined oxidative phosphorylation deficiency 42 +OMIM:180477 skos:exactMatch HGNC_symbol:RPS21 Unspecified RPS21 +OMIM:180477 skos:exactMatch HGNC:10409 Unspecified RPS21 +OMIM:180477 skos:exactMatch UMLS:C1419723 Unspecified RPS21 +OMIM:606860 skos:exactMatch UMLS:C1412922 Unspecified C1NH +OMIM:606860 skos:exactMatch HGNC_symbol:SERPING1 Unspecified C1NH +OMIM:606860 skos:exactMatch HGNC:1228 Unspecified C1NH +OMIM:180478 skos:exactMatch HGNC:10421 Unspecified RPS3A +OMIM:180478 skos:exactMatch HGNC_symbol:RPS3A Unspecified RPS3A +OMIM:180478 skos:exactMatch UMLS:C1419733 Unspecified RPS3A +OMIM:180479 skos:exactMatch HGNC:10353 Unspecified RPL4 +OMIM:180479 skos:exactMatch UMLS:C1419676 Unspecified RPL4 +OMIM:180479 skos:exactMatch HGNC_symbol:RPL4 Unspecified RPL4 +OMIM:606863 skos:exactMatch HGNC_symbol:TOX Unspecified TOX +OMIM:606863 skos:exactMatch HGNC:18988 Unspecified TOX +OMIM:606863 skos:exactMatch UMLS:C1847320 Unspecified TOX +OMIM:604200 skos:exactMatch UMLS:C1420060 Unspecified SIGLEC5 +OMIM:604200 skos:exactMatch HGNC:10874 Unspecified SIGLEC5 +OMIM:604200 skos:exactMatch HGNC_symbol:SIGLEC5 Unspecified SIGLEC5 +OMIM:606864 skos:exactMatch UMLS:C1847319 Unspecified paraganglioma and gastric stromal sarcoma +OMIM:604202 skos:exactMatch HGNC:11133 Unspecified SNAP29 +OMIM:604202 skos:exactMatch HGNC_symbol:SNAP29 Unspecified SNAP29 +OMIM:604202 skos:exactMatch UMLS:C1420271 Unspecified SNAP29 +OMIM:606861 skos:exactMatch HGNC:24664 Unspecified PATE +OMIM:606861 skos:exactMatch HGNC_symbol:PATE1 Unspecified PATE +OMIM:606861 skos:exactMatch UMLS:C1847322 Unspecified PATE +OMIM:604201 skos:exactMatch UMLS:C1858709 Unspecified hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection +OMIM:604201 skos:exactMatch UMLS:C2751781 Unspecified hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection +OMIM:606862 skos:exactMatch HGNC_symbol:OSCAR Unspecified OSCAR +OMIM:606862 skos:exactMatch HGNC:29960 Unspecified OSCAR +OMIM:606862 skos:exactMatch UMLS:C1847321 Unspecified OSCAR +OMIM:606845 skos:exactMatch UMLS:C1425021 Unspecified GOPC +OMIM:606845 skos:exactMatch UMLS:C1847375 Unspecified GOPC +OMIM:606845 skos:exactMatch HGNC_symbol:GOPC Unspecified GOPC +OMIM:606845 skos:exactMatch HGNC:17643 Unspecified GOPC +OMIM:180480 skos:exactMatch HGNC_symbol:RPE Unspecified RPE +OMIM:180480 skos:exactMatch UMLS:C1419621 Unspecified RPE +OMIM:180480 skos:exactMatch HGNC:10293 Unspecified RPE +OMIM:606846 skos:exactMatch HGNC:20986 Unspecified SMYD1 +OMIM:606846 skos:exactMatch HGNC_symbol:SMYD1 Unspecified SMYD1 +OMIM:606846 skos:exactMatch UMLS:C1427224 Unspecified SMYD1 +OMIM:606843 skos:exactMatch UMLS:C1720957 Unspecified immunodeficiency with hyper-igm, iia 3 +OMIM:606844 skos:exactMatch UMLS:C1412355 Unspecified ALMS1 +OMIM:606844 skos:exactMatch HGNC_symbol:ALMS1 Unspecified ALMS1 +OMIM:606844 skos:exactMatch HGNC:428 Unspecified ALMS1 +OMIM:606849 skos:exactMatch HGNC:13736 Unspecified UBL5 +OMIM:606849 skos:exactMatch UMLS:C1422174 Unspecified UBL5 +OMIM:606849 skos:exactMatch HGNC_symbol:UBL5 Unspecified UBL5 +OMIM:263210 skos:exactMatch UMLS:C1849762 Unspecified gillessen-kaesbach-nishimura syndrome +OMIM:606847 skos:exactMatch HGNC:11654 Unspecified TCOF1 +OMIM:606847 skos:exactMatch HGNC_symbol:TCOF1 Unspecified TCOF1 +OMIM:606847 skos:exactMatch UMLS:C1420654 Unspecified TCOF1 +OMIM:606848 skos:exactMatch HGNC:13386 Unspecified NEK7 +OMIM:606848 skos:exactMatch HGNC_symbol:NEK7 Unspecified NEK7 +OMIM:606848 skos:exactMatch UMLS:C1421968 Unspecified NEK7 +OMIM:618830 skos:exactMatch UMLS:C5394226 Unspecified autism, susceptibility to, 20 +OMIM:618832 skos:exactMatch UMLS:C5394228 Unspecified epilepsy, early-onset, with or without developmental delay +OMIM:618831 skos:exactMatch UMLS:C1540007 Unspecified TMEM37 +OMIM:618831 skos:exactMatch HGNC:18216 Unspecified TMEM37 +OMIM:618831 skos:exactMatch HGNC_symbol:TMEM37 Unspecified TMEM37 +OMIM:618823 skos:exactMatch UMLS:C5394193 Unspecified myopathy, congenital proximal, with minicore lesions +OMIM:618822 skos:exactMatch UMLS:C5394189 Unspecified myopathy, congenital, with respiratory insufficiency and bone fractures +OMIM:618825 skos:exactMatch UMLS:C5394205 Unspecified intellectual developmental disorder, autosomal dominant 63, with macrocephaly +OMIM:618824 skos:exactMatch UMLS:C5394199 Unspecified basal ganglia calcification, idiopathic, 8, autosomal recessive +OMIM:618824 skos:exactMatch ORPHA:1980 Unspecified basal ganglia calcification, idiopathic, 8, autosomal recessive +OMIM:618827 skos:exactMatch UMLS:C5394215 Unspecified myopia 27, autosomal dominant +OMIM:618826 skos:exactMatch UMLS:C5394208 Unspecified retinitis pigmentosa 88 +OMIM:618826 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 88 +OMIM:618829 skos:exactMatch UMLS:C5394221 Unspecified nabais sa-de vries syndrome, iia 2 +OMIM:251240 skos:exactMatch UMLS:C1855078 Unspecified microcephaly with chemotactic defect and transient hypogammaglobulinemia +OMIM:618828 skos:exactMatch UMLS:C5394218 Unspecified nabais sa-de vries syndrome, iia 1 +OMIM:606852 skos:exactMatch UMLS:C1847360 Unspecified parkinson disease 10 +OMIM:606853 skos:exactMatch UMLS:C1412682 Unspecified ATP6V1G2 +OMIM:606853 skos:exactMatch HGNC_symbol:ATP6V1G2 Unspecified ATP6V1G2 +OMIM:606853 skos:exactMatch HGNC:862 Unspecified ATP6V1G2 +OMIM:606850 skos:exactMatch HGNC_symbol:MIPOL1 Unspecified MIPOL1 +OMIM:606850 skos:exactMatch HGNC:21460 Unspecified MIPOL1 +OMIM:606850 skos:exactMatch UMLS:C1427563 Unspecified MIPOL1 +OMIM:606851 skos:exactMatch UMLS:C1847361 Unspecified cree mental retardation syndrome +OMIM:604379 skos:exactMatch UMLS:C3148824 Unspecified hypotrichosis 7 +OMIM:604379 skos:exactMatch UMLS:C3148823 Unspecified hypotrichosis 7 +OMIM:604379 skos:exactMatch UMLS:C1836672 Unspecified hypotrichosis 7 +OMIM:616360 skos:exactMatch UMLS:C1823398 Unspecified TMEM135 +OMIM:616360 skos:exactMatch HGNC:26167 Unspecified TMEM135 +OMIM:616360 skos:exactMatch HGNC_symbol:TMEM135 Unspecified TMEM135 +OMIM:616361 skos:exactMatch UMLS:C4225353 Unspecified parkinson disease 21 +OMIM:300711 skos:exactMatch UMLS:C2678037 Unspecified pyloric stenosis, infantile hypertrophic, 4 +OMIM:300710 skos:exactMatch UMLS:C2678038 Unspecified alopecia, androgenetic, 2 +OMIM:616362 skos:exactMatch UMLS:C4225352 Unspecified intellectual developmental disorder, autosomal dominant 36 +OMIM:300713 skos:exactMatch HGNC_symbol:OTUD5 Unspecified OTUD5 +OMIM:300713 skos:exactMatch HGNC:25402 Unspecified OTUD5 +OMIM:300713 skos:exactMatch UMLS:C1826521 Unspecified OTUD5 +OMIM:616363 skos:exactMatch HGNC_symbol:SPRR4 Unspecified SPRR4 +OMIM:616363 skos:exactMatch UMLS:C1427965 Unspecified SPRR4 +OMIM:616363 skos:exactMatch HGNC:23173 Unspecified SPRR4 +OMIM:300712 skos:exactMatch UMLS:C2678036 Unspecified craniofacioskeletal syndrome +OMIM:616364 skos:exactMatch UMLS:C4225351 Unspecified white-sutton syndrome +OMIM:300715 skos:exactMatch HGNC:28880 Unspecified MAGT1 +OMIM:300715 skos:exactMatch UMLS:C2239666 Unspecified MAGT1 +OMIM:300715 skos:exactMatch HGNC_symbol:MAGT1 Unspecified MAGT1 +OMIM:616365 skos:exactMatch HGNC_symbol:SCYL2 Unspecified SCYL2 +OMIM:616365 skos:exactMatch HGNC:19286 Unspecified SCYL2 +OMIM:616365 skos:exactMatch UMLS:C5231494 Unspecified SCYL2 +OMIM:616365 skos:exactMatch UMLS:C1539735 Unspecified SCYL2 +OMIM:616366 skos:exactMatch UMLS:C4225350 Unspecified developmental and epileptic encephalopathy 32 +OMIM:616366 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 32 +OMIM:300714 skos:exactMatch UMLS:C1826522 Unspecified OTUD6A +OMIM:300714 skos:exactMatch HGNC:32312 Unspecified OTUD6A +OMIM:300714 skos:exactMatch HGNC_symbol:OTUD6A Unspecified OTUD6A +OMIM:616367 skos:exactMatch UMLS:C4225349 Unspecified mandibulofacial dysostosis with alopecia +OMIM:300717 skos:exactMatch UMLS:C4225423 Unspecified reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset +OMIM:300716 skos:exactMatch UMLS:C2678034 Unspecified intellectual developmental disorder, X-linked 95 +OMIM:300716 skos:exactMatch ORPHA:777 Unspecified intellectual developmental disorder, X-linked 95 +OMIM:616368 skos:exactMatch UMLS:C4085597 Unspecified chops syndrome +OMIM:616358 skos:exactMatch HGNC_symbol:MIR379 Unspecified MIR379 +OMIM:616358 skos:exactMatch UMLS:C1537900 Unspecified MIR379 +OMIM:616358 skos:exactMatch HGNC:31872 Unspecified MIR379 +OMIM:300719 skos:exactMatch UMLS:C2678011 Unspecified deafness, cataract, retinitis pigmentosa, and sperm abnormalities +OMIM:300718 skos:exactMatch UMLS:C4225159 Unspecified reducing body myopathy, X-linked 1b, with late childhood or adult onset +OMIM:616359 skos:exactMatch UMLS:C5436638 Unspecified COQ5 +OMIM:616359 skos:exactMatch UMLS:C1824777 Unspecified COQ5 +OMIM:616359 skos:exactMatch HGNC:28722 Unspecified COQ5 +OMIM:616359 skos:exactMatch HGNC_symbol:COQ5 Unspecified COQ5 +OMIM:251450 skos:exactMatch ORPHA:1425 Unspecified desbuquois dysplasia 1 +OMIM:251450 skos:exactMatch UMLS:C0432242 Unspecified desbuquois dysplasia 1 +OMIM:251450 skos:exactMatch UMLS:C4012146 Unspecified desbuquois dysplasia 1 +OMIM:604381 skos:exactMatch UMLS:C1858420 Unspecified patent ductus arteriosus and bicuspid aortic valve with hand anomalies +OMIM:604380 skos:exactMatch UMLS:C1858422 Unspecified ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia +OMIM:604383 skos:exactMatch HGNC_symbol:GFI1B Unspecified GFI1B +OMIM:604383 skos:exactMatch UMLS:C1333670 Unspecified GFI1B +OMIM:604383 skos:exactMatch HGNC:4238 Unspecified GFI1B +OMIM:604382 skos:exactMatch UMLS:C1858419 Unspecified lissencephaly, familial, with cleft palate and cerebellar hypoplasia +OMIM:604385 skos:exactMatch UMLS:C3809899 Unspecified SCN11A +OMIM:604385 skos:exactMatch UMLS:C3809882 Unspecified SCN11A +OMIM:604385 skos:exactMatch UMLS:C1419854 Unspecified SCN11A +OMIM:604385 skos:exactMatch HGNC:10583 Unspecified SCN11A +OMIM:604385 skos:exactMatch HGNC_symbol:SCN11A Unspecified SCN11A +OMIM:604384 skos:exactMatch UMLS:C1421881 Unspecified ATP2C1 +OMIM:604384 skos:exactMatch HGNC:13211 Unspecified ATP2C1 +OMIM:604384 skos:exactMatch HGNC_symbol:ATP2C1 Unspecified ATP2C1 +OMIM:604387 skos:exactMatch UMLS:C1858392 Unspecified nephronophthisis 3 +OMIM:604386 skos:exactMatch UMLS:C0432233 Unspecified TRPS1 +OMIM:604386 skos:exactMatch HGNC_symbol:TRPS1 Unspecified TRPS1 +OMIM:604386 skos:exactMatch HGNC:12340 Unspecified TRPS1 +OMIM:604386 skos:exactMatch UMLS:C1421175 Unspecified TRPS1 +OMIM:604386 skos:exactMatch UMLS:C1860823 Unspecified TRPS1 +OMIM:604389 skos:exactMatch HGNC:4402 Unspecified GNG10 +OMIM:604389 skos:exactMatch UMLS:C1415153 Unspecified GNG10 +OMIM:604389 skos:exactMatch HGNC_symbol:GNG10 Unspecified GNG10 +OMIM:604388 skos:exactMatch UMLS:C1415157 Unspecified GNG4 +OMIM:604388 skos:exactMatch HGNC_symbol:GNG4 Unspecified GNG4 +OMIM:604388 skos:exactMatch HGNC:4407 Unspecified GNG4 +OMIM:604369 skos:exactMatch UMLS:C1096903 Unspecified salla disease +OMIM:604368 skos:exactMatch HGNC:4462 Unspecified GPNMB +OMIM:604368 skos:exactMatch UMLS:C1415205 Unspecified GPNMB +OMIM:604368 skos:exactMatch HGNC_symbol:GPNMB Unspecified GPNMB +OMIM:300720 skos:exactMatch HGNC:4099 Unspecified GAGE2A +OMIM:300720 skos:exactMatch HGNC_symbol:GAGE2A Unspecified GAGE2A +OMIM:300720 skos:exactMatch UMLS:C1414931 Unspecified GAGE2A +OMIM:300722 skos:exactMatch HGNC_symbol:MIR19B2 Unspecified MIR19B2 +OMIM:300722 skos:exactMatch UMLS:C1537717 Unspecified MIR19B2 +OMIM:300722 skos:exactMatch HGNC:31576 Unspecified MIR19B2 +OMIM:616350 skos:exactMatch HGNC:50886 Unspecified PARTICL +OMIM:616350 skos:exactMatch HGNC_symbol:PARTICL Unspecified PARTICL +OMIM:616350 skos:exactMatch UMLS:C4085054 Unspecified PARTICL +OMIM:300721 skos:exactMatch HGNC_symbol:MIRLET7F2 Unspecified MIRLET7F2 +OMIM:300721 skos:exactMatch UMLS:C1537918 Unspecified MIRLET7F2 +OMIM:300721 skos:exactMatch HGNC:31484 Unspecified MIRLET7F2 +OMIM:616351 skos:exactMatch UMLS:C4225156 Unspecified intellectual developmental disorder, autosomal dominant 34 +OMIM:616352 skos:exactMatch UMLS:C1428044 Unspecified ACBD6 +OMIM:616352 skos:exactMatch HGNC_symbol:ACBD6 Unspecified ACBD6 +OMIM:616352 skos:exactMatch HGNC:23339 Unspecified ACBD6 +OMIM:300724 skos:exactMatch UMLS:C1539114 Unspecified CNKSR2 +OMIM:300724 skos:exactMatch HGNC:19701 Unspecified CNKSR2 +OMIM:300724 skos:exactMatch HGNC_symbol:CNKSR2 Unspecified CNKSR2 +OMIM:616353 skos:exactMatch UMLS:C4225356 Unspecified dyskeratosis congenita, autosomal recessive 6 +OMIM:300723 skos:exactMatch UMLS:C1423598 Unspecified SYTL4 +OMIM:300723 skos:exactMatch HGNC_symbol:SYTL4 Unspecified SYTL4 +OMIM:300723 skos:exactMatch HGNC:15588 Unspecified SYTL4 +OMIM:300726 skos:exactMatch UMLS:C2239466 Unspecified GAGE2B +OMIM:300726 skos:exactMatch HGNC:31957 Unspecified GAGE2B +OMIM:300726 skos:exactMatch HGNC_symbol:GAGE2B Unspecified GAGE2B +OMIM:616354 skos:exactMatch UMLS:C4225355 Unspecified spinocerebellar ataxia, autosomal recessive 20 +OMIM:616354 skos:exactMatch ORPHA:397709 Unspecified spinocerebellar ataxia, autosomal recessive 20 +OMIM:616355 skos:exactMatch UMLS:C4225354 Unspecified intellectual developmental disorder, autosomal dominant 35 +OMIM:300725 skos:exactMatch HGNC:19901 Unspecified RRAGB +OMIM:300725 skos:exactMatch HGNC_symbol:RRAGB Unspecified RRAGB +OMIM:300725 skos:exactMatch UMLS:C1426516 Unspecified RRAGB +OMIM:616356 skos:exactMatch UMLS:C3470959 Unspecified MIR31HG +OMIM:616356 skos:exactMatch HGNC_symbol:MIR31HG Unspecified MIR31HG +OMIM:616356 skos:exactMatch HGNC:37187 Unspecified MIR31HG +OMIM:300728 skos:exactMatch HGNC_symbol:GAGE12D Unspecified GAGE12D +OMIM:300728 skos:exactMatch HGNC:31904 Unspecified GAGE12D +OMIM:300728 skos:exactMatch UMLS:C1825333 Unspecified GAGE12D +OMIM:616357 skos:exactMatch UMLS:C4084708 Unspecified deafness, autosomal dominant 40 +OMIM:300727 skos:exactMatch HGNC_symbol:GAGE12C Unspecified GAGE12C +OMIM:300727 skos:exactMatch UMLS:C1825332 Unspecified GAGE12C +OMIM:300727 skos:exactMatch HGNC:28402 Unspecified GAGE12C +OMIM:616347 skos:exactMatch HGNC:13996 Unspecified PRDM11 +OMIM:616347 skos:exactMatch UMLS:C1422333 Unspecified PRDM11 +OMIM:616347 skos:exactMatch HGNC_symbol:PRDM11 Unspecified PRDM11 +OMIM:616348 skos:exactMatch HGNC:30954 Unspecified ZNF695 +OMIM:616348 skos:exactMatch HGNC_symbol:ZNF695 Unspecified ZNF695 +OMIM:616348 skos:exactMatch UMLS:C1823995 Unspecified ZNF695 +OMIM:300729 skos:exactMatch HGNC_symbol:GAGE12E Unspecified GAGE12E +OMIM:300729 skos:exactMatch HGNC:31905 Unspecified GAGE12E +OMIM:300729 skos:exactMatch UMLS:C1825334 Unspecified GAGE12E +OMIM:616349 skos:exactMatch HGNC:24098 Unspecified SORBS2 +OMIM:616349 skos:exactMatch HGNC_symbol:SORBS2 Unspecified SORBS2 +OMIM:616349 skos:exactMatch UMLS:C1823080 Unspecified SORBS2 +OMIM:604370 skos:exactMatch UMLS:C2676678 Unspecified breast-ovarian cancer, familial, susceptibility to, 1 +OMIM:604370 skos:exactMatch UMLS:C2676677 Unspecified breast-ovarian cancer, familial, susceptibility to, 1 +OMIM:604370 skos:exactMatch UMLS:C2676676 Unspecified breast-ovarian cancer, familial, susceptibility to, 1 +OMIM:604372 skos:exactMatch HGNC:4906 Unspecified HHLA3 +OMIM:604372 skos:exactMatch UMLS:C1415541 Unspecified HHLA3 +OMIM:604372 skos:exactMatch HGNC_symbol:HHLA3 Unspecified HHLA3 +OMIM:312700 skos:exactMatch UMLS:C3714753 Unspecified retinoschisis 1, x-linked, juvenile +OMIM:604371 skos:exactMatch HGNC:4905 Unspecified HHLA2 +OMIM:604371 skos:exactMatch UMLS:C1415540 Unspecified HHLA2 +OMIM:604371 skos:exactMatch HGNC_symbol:HHLA2 Unspecified HHLA2 +OMIM:604374 skos:exactMatch UMLS:C1417432 Unspecified MTL5 +OMIM:604374 skos:exactMatch HGNC_symbol:TESMIN Unspecified MTL5 +OMIM:604374 skos:exactMatch HGNC:7446 Unspecified MTL5 +OMIM:604373 skos:exactMatch HGNC_symbol:CHEK2 Unspecified CHEK2 +OMIM:604373 skos:exactMatch HGNC:16627 Unspecified CHEK2 +OMIM:604373 skos:exactMatch UMLS:C1858433 Unspecified CHEK2 +OMIM:604373 skos:exactMatch UMLS:C1424448 Unspecified CHEK2 +OMIM:604376 skos:exactMatch HGNC:7226 Unspecified MPZL1 +OMIM:604376 skos:exactMatch UMLS:C1334528 Unspecified MPZL1 +OMIM:604376 skos:exactMatch HGNC_symbol:MPZL1 Unspecified MPZL1 +OMIM:604375 skos:exactMatch HGNC:4897 Unspecified HGS +OMIM:604375 skos:exactMatch UMLS:C1366514 Unspecified HGS +OMIM:604375 skos:exactMatch HGNC_symbol:HGS Unspecified HGS +OMIM:604378 skos:exactMatch HGNC_symbol:BECN1 Unspecified BECN1 +OMIM:604378 skos:exactMatch HGNC:1034 Unspecified BECN1 +OMIM:604378 skos:exactMatch UMLS:C1412785 Unspecified BECN1 +OMIM:604377 skos:exactMatch UMLS:C5399977 Unspecified mitochondrial complex 4 deficiency, nuclear iia 2 +OMIM:604377 skos:exactMatch UMLS:C1858424 Unspecified mitochondrial complex 4 deficiency, nuclear iia 2 +OMIM:604377 skos:exactMatch ORPHA:1561 Unspecified mitochondrial complex 4 deficiency, nuclear iia 2 +OMIM:604358 skos:exactMatch HGNC:11354 Unspecified STAG1 +OMIM:604358 skos:exactMatch UMLS:C4539951 Unspecified STAG1 +OMIM:604358 skos:exactMatch UMLS:C1420448 Unspecified STAG1 +OMIM:604358 skos:exactMatch HGNC_symbol:STAG1 Unspecified STAG1 +OMIM:604357 skos:exactMatch HGNC_symbol:MAB21L2 Unspecified MAB21L2 +OMIM:604357 skos:exactMatch HGNC:6758 Unspecified MAB21L2 +OMIM:604357 skos:exactMatch UMLS:C1416955 Unspecified MAB21L2 +OMIM:616340 skos:exactMatch ORPHA:90635 Unspecified deafness, autosomal dominant 67 +OMIM:616340 skos:exactMatch UMLS:C4084712 Unspecified deafness, autosomal dominant 67 +OMIM:616341 skos:exactMatch UMLS:C4225360 Unspecified developmental and epileptic encephalopathy 30 +OMIM:616341 skos:exactMatch ORPHA:1935 Unspecified developmental and epileptic encephalopathy 30 +OMIM:616341 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 30 +OMIM:616341 skos:exactMatch ORPHA:3451 Unspecified developmental and epileptic encephalopathy 30 +OMIM:616342 skos:exactMatch UMLS:C4225359 Unspecified lissencephaly 7 with cerebellar hypoplasia +OMIM:616343 skos:exactMatch HGNC_symbol:TP53COR1 Unspecified TP53COR1 +OMIM:616343 skos:exactMatch UMLS:C4085705 Unspecified TP53COR1 +OMIM:616343 skos:exactMatch HGNC:43652 Unspecified TP53COR1 +OMIM:616344 skos:exactMatch HGNC_symbol:TTC23L Unspecified TTC23L +OMIM:616344 skos:exactMatch HGNC:26355 Unspecified TTC23L +OMIM:616344 skos:exactMatch UMLS:C2681083 Unspecified TTC23L +OMIM:616345 skos:exactMatch UMLS:C4225358 Unspecified immunodeficiency 39 +OMIM:616346 skos:exactMatch ORPHA:2382 Unspecified developmental and epileptic encephalopathy 31 +OMIM:616346 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 31 +OMIM:616346 skos:exactMatch UMLS:C4225357 Unspecified developmental and epileptic encephalopathy 31 +OMIM:616336 skos:exactMatch UMLS:C2829647 Unspecified AKR1B15 +OMIM:616336 skos:exactMatch HGNC:37281 Unspecified AKR1B15 +OMIM:616336 skos:exactMatch HGNC_symbol:AKR1B15 Unspecified AKR1B15 +OMIM:618999 skos:exactMatch UMLS:C5436572 Unspecified autoinflammation, immune dysregulation, and eosinophilia +OMIM:616337 skos:exactMatch HGNC:19392 Unspecified SOCS4 +OMIM:616337 skos:exactMatch HGNC_symbol:SOCS4 Unspecified SOCS4 +OMIM:616337 skos:exactMatch UMLS:C1426213 Unspecified SOCS4 +OMIM:618998 skos:exactMatch UMLS:C5436563 Unspecified immune dysregulation and systemic hyperinflammation syndrome +OMIM:616338 skos:exactMatch HGNC_symbol:SOX2-OT Unspecified SOX2OT +OMIM:616338 skos:exactMatch HGNC:20209 Unspecified SOX2OT +OMIM:616338 skos:exactMatch UMLS:C1426776 Unspecified SOX2OT +OMIM:616339 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 29 +OMIM:616339 skos:exactMatch UMLS:C4225361 Unspecified developmental and epileptic encephalopathy 29 +OMIM:275400 skos:exactMatch UMLS:C1848745 Unspecified oliver-mcfarlane syndrome +OMIM:275400 skos:exactMatch ORPHA:3363 Unspecified oliver-mcfarlane syndrome +OMIM:604360 skos:exactMatch UMLS:C1858479 Unspecified spastic paraplegia 11, autosomal recessive +OMIM:604363 skos:exactMatch UMLS:C1858478 Unspecified myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders +OMIM:604362 skos:exactMatch UMLS:C1416885 Unspecified LMO7 +OMIM:604362 skos:exactMatch HGNC_symbol:LMO7 Unspecified LMO7 +OMIM:604362 skos:exactMatch HGNC:6646 Unspecified LMO7 +OMIM:604365 skos:exactMatch UMLS:C2675210 Unspecified PROM1 +OMIM:604365 skos:exactMatch UMLS:C0339512 Unspecified PROM1 +OMIM:604365 skos:exactMatch UMLS:C1418946 Unspecified PROM1 +OMIM:604365 skos:exactMatch HGNC_symbol:PROM1 Unspecified PROM1 +OMIM:604365 skos:exactMatch HGNC:9454 Unspecified PROM1 +OMIM:604365 skos:exactMatch UMLS:C1863534 Unspecified PROM1 +OMIM:604365 skos:exactMatch UMLS:C2677516 Unspecified PROM1 +OMIM:604364 skos:exactMatch ORPHA:98820 Unspecified epilepsy, familial focal, with variable foci 1 +OMIM:604364 skos:exactMatch UMLS:C1858477 Unspecified epilepsy, familial focal, with variable foci 1 +OMIM:604364 skos:exactMatch UMLS:C4551983 Unspecified epilepsy, familial focal, with variable foci 1 +OMIM:604367 skos:exactMatch UMLS:C1720861 Unspecified lipodystrophy, familial partial, iia 3 +OMIM:604366 skos:exactMatch UMLS:C1414105 Unspecified DNAI1 +OMIM:604366 skos:exactMatch HGNC:2954 Unspecified DNAI1 +OMIM:604366 skos:exactMatch HGNC_symbol:DNAI1 Unspecified DNAI1 +OMIM:604347 skos:exactMatch HGNC:13058 Unspecified ZRANB2 +OMIM:604347 skos:exactMatch HGNC_symbol:ZRANB2 Unspecified ZRANB2 +OMIM:604347 skos:exactMatch UMLS:C1824080 Unspecified ZRANB2 +OMIM:604346 skos:exactMatch HGNC:6823 Unspecified MAN1B1 +OMIM:604346 skos:exactMatch HGNC_symbol:MAN1B1 Unspecified MAN1B1 +OMIM:604346 skos:exactMatch UMLS:C3280127 Unspecified MAN1B1 +OMIM:604346 skos:exactMatch UMLS:C1416994 Unspecified MAN1B1 +OMIM:604349 skos:exactMatch HGNC:6494 Unspecified LAMC3 +OMIM:604349 skos:exactMatch HGNC_symbol:LAMC3 Unspecified LAMC3 +OMIM:604349 skos:exactMatch UMLS:C1416787 Unspecified LAMC3 +OMIM:604348 skos:exactMatch UMLS:C3807327 Unspecified advanced sleep phase syndrome, familial, 1 +OMIM:300700 skos:exactMatch UMLS:C1845068 Unspecified albinism-deafness syndrome +OMIM:618991 skos:exactMatch UMLS:C1419953 Unspecified SEMA4G +OMIM:618991 skos:exactMatch HGNC:10735 Unspecified SEMA4G +OMIM:618991 skos:exactMatch HGNC_symbol:SEMA4G Unspecified SEMA4G +OMIM:618990 skos:exactMatch UMLS:C1823431 Unspecified EVA1A +OMIM:618990 skos:exactMatch HGNC_symbol:EVA1A Unspecified EVA1A +OMIM:618990 skos:exactMatch HGNC:25816 Unspecified EVA1A +OMIM:300702 skos:exactMatch HGNC_symbol:MAGED4 Unspecified MAGED4 +OMIM:300702 skos:exactMatch HGNC:23793 Unspecified MAGED4 +OMIM:300702 skos:exactMatch UMLS:C1428262 Unspecified MAGED4 +OMIM:616330 skos:exactMatch UMLS:C4225364 Unspecified myasthenic syndrome, congenital, 18 +OMIM:618993 skos:exactMatch HGNC_symbol:RNF208 Unspecified RNF208 +OMIM:618993 skos:exactMatch HGNC:25420 Unspecified RNF208 +OMIM:618993 skos:exactMatch UMLS:C2239896 Unspecified RNF208 +OMIM:300701 skos:exactMatch HGNC:27273 Unspecified ZCCHC12 +OMIM:300701 skos:exactMatch HGNC_symbol:ZCCHC12 Unspecified ZCCHC12 +OMIM:300701 skos:exactMatch UMLS:C1538160 Unspecified ZCCHC12 +OMIM:618992 skos:exactMatch UMLS:C5436552 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 +OMIM:616331 skos:exactMatch UMLS:C4225363 Unspecified robinow syndrome, autosomal dominant 2 +OMIM:618995 skos:exactMatch UMLS:C1421889 Unspecified BPESC1 +OMIM:618995 skos:exactMatch HGNC_symbol:BPESC1 Unspecified BPESC1 +OMIM:618995 skos:exactMatch HGNC:13228 Unspecified BPESC1 +OMIM:616332 skos:exactMatch HGNC:17872 Unspecified ARMT1 +OMIM:616332 skos:exactMatch HGNC_symbol:ARMT1 Unspecified ARMT1 +OMIM:616332 skos:exactMatch UMLS:C1425146 Unspecified ARMT1 +OMIM:300704 skos:exactMatch UMLS:C2678047 Unspecified prostate cancer, hereditary, X-linked 2 +OMIM:618994 skos:exactMatch HGNC_symbol:HPDL Unspecified HPDL +OMIM:618994 skos:exactMatch UMLS:C5436628 Unspecified HPDL +OMIM:618994 skos:exactMatch UMLS:C5436637 Unspecified HPDL +OMIM:618994 skos:exactMatch UMLS:C1825370 Unspecified HPDL +OMIM:618994 skos:exactMatch HGNC:28242 Unspecified HPDL +OMIM:300703 skos:exactMatch UMLS:C2678048 Unspecified spinocerebellar ataxia, X-linked 5 +OMIM:616333 skos:exactMatch UMLS:C4085375 Unspecified WSPAR +OMIM:616333 skos:exactMatch HGNC_symbol:WSPAR Unspecified WSPAR +OMIM:616333 skos:exactMatch HGNC:51639 Unspecified WSPAR +OMIM:618997 skos:exactMatch HGNC_symbol:CDADC1 Unspecified CDADC1 +OMIM:618997 skos:exactMatch HGNC:20299 Unspecified CDADC1 +OMIM:618997 skos:exactMatch UMLS:C1426841 Unspecified CDADC1 +OMIM:616334 skos:exactMatch HGNC:25607 Unspecified TMEM100 +OMIM:616334 skos:exactMatch UMLS:C1823360 Unspecified TMEM100 +OMIM:616334 skos:exactMatch HGNC_symbol:TMEM100 Unspecified TMEM100 +OMIM:616335 skos:exactMatch UMLS:C4225362 Unspecified microcephaly and chorioretinopathy, autosomal recessive, 3 +OMIM:618996 skos:exactMatch HGNC_symbol:LRRC3B Unspecified LRRC3B +OMIM:618996 skos:exactMatch UMLS:C1537593 Unspecified LRRC3B +OMIM:618996 skos:exactMatch HGNC:28105 Unspecified LRRC3B +OMIM:300705 skos:exactMatch UMLS:C0796238 Unspecified chromosome xp11.22 duplication syndrome +OMIM:300705 skos:exactMatch UMLS:C0796223 Unspecified chromosome xp11.22 duplication syndrome +OMIM:300708 skos:exactMatch HGNC_symbol:CCNQ Unspecified FAM58A +OMIM:300708 skos:exactMatch HGNC:28434 Unspecified FAM58A +OMIM:300708 skos:exactMatch UMLS:C1825117 Unspecified FAM58A +OMIM:618988 skos:exactMatch UMLS:C2239304 Unspecified CLRN2 +OMIM:618988 skos:exactMatch HGNC_symbol:CLRN2 Unspecified CLRN2 +OMIM:618988 skos:exactMatch UMLS:C5436937 Unspecified CLRN2 +OMIM:618988 skos:exactMatch HGNC:33939 Unspecified CLRN2 +OMIM:616325 skos:exactMatch UMLS:C4225368 Unspecified myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency +OMIM:300707 skos:exactMatch UMLS:C2678045 Unspecified toe syndactyly, telecanthus, and anogenital and renal malformations +OMIM:616326 skos:exactMatch UMLS:C4225367 Unspecified myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency +OMIM:618987 skos:exactMatch ORPHA:183707 Unspecified immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia +OMIM:618987 skos:exactMatch UMLS:C5436550 Unspecified immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia +OMIM:616327 skos:exactMatch UMLS:C2681145 Unspecified CHAMP1 +OMIM:616327 skos:exactMatch HGNC_symbol:CHAMP1 Unspecified CHAMP1 +OMIM:616327 skos:exactMatch HGNC:20311 Unspecified CHAMP1 +OMIM:618989 skos:exactMatch HGNC:27884 Unspecified TMEM119 +OMIM:618989 skos:exactMatch HGNC_symbol:TMEM119 Unspecified TMEM119 +OMIM:618989 skos:exactMatch UMLS:C1823380 Unspecified TMEM119 +OMIM:616328 skos:exactMatch UMLS:C4225366 Unspecified None +OMIM:300709 skos:exactMatch UMLS:C2678039 Unspecified intellectual developmental disorder, x-linked, syndromic 9 +OMIM:616329 skos:exactMatch UMLS:C4225365 Unspecified maturity-onset diabetes of the young, iia 13 +OMIM:604350 skos:exactMatch HGNC_symbol:RAB3D Unspecified RAB3D +OMIM:604350 skos:exactMatch HGNC:9779 Unspecified RAB3D +OMIM:604350 skos:exactMatch UMLS:C1419208 Unspecified RAB3D +OMIM:604352 skos:exactMatch UMLS:C1858493 Unspecified febrile seizures, familial, 4 +OMIM:604351 skos:exactMatch HGNC_symbol:PHF2 Unspecified PHF2 +OMIM:604351 skos:exactMatch UMLS:C1418528 Unspecified PHF2 +OMIM:604351 skos:exactMatch HGNC:8920 Unspecified PHF2 +OMIM:604354 skos:exactMatch UMLS:C1417888 Unspecified NUFIP1 +OMIM:604354 skos:exactMatch HGNC_symbol:NUFIP1 Unspecified NUFIP1 +OMIM:604354 skos:exactMatch HGNC:8057 Unspecified NUFIP1 +OMIM:604353 skos:exactMatch UMLS:C1422726 Unspecified CHORDC1 +OMIM:604353 skos:exactMatch HGNC_symbol:CHORDC1 Unspecified CHORDC1 +OMIM:604353 skos:exactMatch HGNC:14525 Unspecified CHORDC1 +OMIM:604356 skos:exactMatch ORPHA:233 Unspecified duane retraction syndrome 2 +OMIM:604356 skos:exactMatch UMLS:C0751083 Unspecified duane retraction syndrome 2 +OMIM:604355 skos:exactMatch HGNC:2237 Unspecified COPG2 +OMIM:604355 skos:exactMatch HGNC_symbol:COPG2 Unspecified COPG2 +OMIM:604355 skos:exactMatch UMLS:C1413611 Unspecified COPG2 +OMIM:300751 skos:exactMatch UMLS:C4551511 Unspecified anemia, sideroblastic, 1 +OMIM:300750 skos:exactMatch UMLS:C2677897 Unspecified spastic paraplegia 34, X-linked +OMIM:300753 skos:exactMatch UMLS:C1824093 Unspecified APOO +OMIM:300753 skos:exactMatch HGNC:28727 Unspecified APOO +OMIM:300753 skos:exactMatch HGNC_symbol:APOO Unspecified APOO +OMIM:300752 skos:exactMatch UMLS:C2677889 Unspecified protoporphyria, erythropoietic, X-linked +OMIM:300755 skos:exactMatch UMLS:C0241932 Unspecified agammaglobulinemia, X-linked +OMIM:300755 skos:exactMatch UMLS:C0221026 Unspecified agammaglobulinemia, X-linked +OMIM:263400 skos:exactMatch UMLS:C1837915 Unspecified erythrocytosis, familial, 2 +OMIM:263400 skos:exactMatch ORPHA:238557 Unspecified erythrocytosis, familial, 2 +OMIM:300754 skos:exactMatch HGNC_symbol:TAF9B Unspecified TAF9B +OMIM:300754 skos:exactMatch HGNC:17306 Unspecified TAF9B +OMIM:300754 skos:exactMatch UMLS:C1823225 Unspecified TAF9B +OMIM:300757 skos:exactMatch HGNC:10274 Unspecified RP2 +OMIM:300757 skos:exactMatch HGNC_symbol:RP2 Unspecified RP2 +OMIM:300757 skos:exactMatch UMLS:C1419608 Unspecified RP2 +OMIM:300756 skos:exactMatch UMLS:C2677888 Unspecified alzheimer disease 16 +OMIM:300759 skos:exactMatch UMLS:C2681922 Unspecified MAGEE1 +OMIM:300759 skos:exactMatch HGNC:24934 Unspecified MAGEE1 +OMIM:300759 skos:exactMatch HGNC_symbol:MAGEE1 Unspecified MAGEE1 +OMIM:300758 skos:exactMatch UMLS:C2677879 Unspecified hypospadias 2, X-linked +OMIM:300760 skos:exactMatch HGNC_symbol:MAGEE2 Unspecified MAGEE2 +OMIM:300760 skos:exactMatch HGNC:24935 Unspecified MAGEE2 +OMIM:300760 skos:exactMatch UMLS:C1537641 Unspecified MAGEE2 +OMIM:300762 skos:exactMatch HGNC:21188 Unspecified MAGEB16 +OMIM:300762 skos:exactMatch HGNC_symbol:MAGEB16 Unspecified MAGEB16 +OMIM:300762 skos:exactMatch UMLS:C1537638 Unspecified MAGEB16 +OMIM:616390 skos:exactMatch ORPHA:33364 Unspecified trichothiodystrophy 2, photosensitive +OMIM:616390 skos:exactMatch UMLS:C4225344 Unspecified trichothiodystrophy 2, photosensitive +OMIM:616391 skos:exactMatch HGNC:26353 Unspecified RANBP3L +OMIM:616391 skos:exactMatch HGNC_symbol:RANBP3L Unspecified RANBP3L +OMIM:616391 skos:exactMatch UMLS:C1826765 Unspecified RANBP3L +OMIM:300761 skos:exactMatch HGNC_symbol:MAGEB10 Unspecified MAGEB10 +OMIM:300761 skos:exactMatch HGNC:25377 Unspecified MAGEB10 +OMIM:300761 skos:exactMatch UMLS:C1537637 Unspecified MAGEB10 +OMIM:616392 skos:exactMatch HGNC_symbol:SKINT1L Unspecified skint1-like pseudogene +OMIM:616392 skos:exactMatch UMLS:C4085348 Unspecified skint1-like pseudogene +OMIM:616392 skos:exactMatch HGNC:33993 Unspecified skint1-like pseudogene +OMIM:300764 skos:exactMatch UMLS:C1825935 Unspecified MAGEA9B +OMIM:300764 skos:exactMatch HGNC_symbol:MAGEA9B Unspecified MAGEA9B +OMIM:300764 skos:exactMatch HGNC:31909 Unspecified MAGEA9B +OMIM:300763 skos:exactMatch UMLS:C1537639 Unspecified MAGEB17 +OMIM:300763 skos:exactMatch HGNC:17418 Unspecified MAGEB17 +OMIM:300763 skos:exactMatch HGNC_symbol:MAGEB17 Unspecified MAGEB17 +OMIM:616393 skos:exactMatch ORPHA:178469 Unspecified intellectual developmental disorder, autosomal dominant 38 +OMIM:616393 skos:exactMatch UMLS:C4225343 Unspecified intellectual developmental disorder, autosomal dominant 38 +OMIM:616394 skos:exactMatch UMLS:C4225342 Unspecified retinitis pigmentosa 71 +OMIM:300766 skos:exactMatch HGNC_symbol:NKAP Unspecified NKAP +OMIM:300766 skos:exactMatch HGNC:29873 Unspecified NKAP +OMIM:300766 skos:exactMatch UMLS:C5393302 Unspecified NKAP +OMIM:300766 skos:exactMatch UMLS:C2239784 Unspecified NKAP +OMIM:300765 skos:exactMatch HGNC:22880 Unspecified MAGED4B +OMIM:300765 skos:exactMatch UMLS:C1825937 Unspecified MAGED4B +OMIM:300765 skos:exactMatch HGNC_symbol:MAGED4B Unspecified MAGED4B +OMIM:616395 skos:exactMatch UMLS:C4017171 Unspecified trichothiodystrophy 3, photosensitive +OMIM:616395 skos:exactMatch ORPHA:33364 Unspecified trichothiodystrophy 3, photosensitive +OMIM:616396 skos:exactMatch HGNC_symbol:SCMH1 Unspecified SCMH1 +OMIM:616396 skos:exactMatch UMLS:C1425943 Unspecified SCMH1 +OMIM:616396 skos:exactMatch HGNC:19003 Unspecified SCMH1 +OMIM:300768 skos:exactMatch HGNC:2582 Unspecified CYLC1 +OMIM:300768 skos:exactMatch HGNC_symbol:CYLC1 Unspecified CYLC1 +OMIM:300768 skos:exactMatch UMLS:C1413848 Unspecified CYLC1 +OMIM:300767 skos:exactMatch UMLS:C1538883 Unspecified RPA4 +OMIM:300767 skos:exactMatch HGNC:30305 Unspecified RPA4 +OMIM:300767 skos:exactMatch HGNC_symbol:RPA4 Unspecified RPA4 +OMIM:616397 skos:exactMatch HGNC_symbol:PXMP4 Unspecified PXMP4 +OMIM:616397 skos:exactMatch HGNC:15920 Unspecified PXMP4 +OMIM:616397 skos:exactMatch UMLS:C1423832 Unspecified PXMP4 +OMIM:616398 skos:exactMatch UMLS:C4225341 Unspecified dystonia 26, myoclonic +OMIM:300769 skos:exactMatch HGNC_symbol:MIR224 Unspecified MIR224 +OMIM:300769 skos:exactMatch UMLS:C1537862 Unspecified MIR224 +OMIM:300769 skos:exactMatch HGNC:31604 Unspecified MIR224 +OMIM:616399 skos:exactMatch UMLS:C4225340 Unspecified brugada syndrome 9 +OMIM:309100 skos:exactMatch UMLS:C1839842 Unspecified macular dystrophy, X-linked +OMIM:616380 skos:exactMatch HGNC:6491 Unspecified LAMB4 +OMIM:616380 skos:exactMatch HGNC_symbol:LAMB4 Unspecified LAMB4 +OMIM:616380 skos:exactMatch UMLS:C1416784 Unspecified LAMB4 +OMIM:300731 skos:exactMatch UMLS:C1825336 Unspecified GAGE12G +OMIM:300731 skos:exactMatch HGNC_symbol:GAGE12G Unspecified GAGE12G +OMIM:300731 skos:exactMatch HGNC:31907 Unspecified GAGE12G +OMIM:616381 skos:exactMatch HGNC:25265 Unspecified ZCCHC8 +OMIM:616381 skos:exactMatch HGNC_symbol:ZCCHC8 Unspecified ZCCHC8 +OMIM:616381 skos:exactMatch UMLS:C1428463 Unspecified ZCCHC8 +OMIM:300730 skos:exactMatch UMLS:C1825335 Unspecified GAGE12F +OMIM:300730 skos:exactMatch HGNC_symbol:GAGE12F Unspecified GAGE12F +OMIM:300730 skos:exactMatch HGNC:31906 Unspecified GAGE12F +OMIM:616382 skos:exactMatch UMLS:C1823594 Unspecified UGT2A3 +OMIM:616382 skos:exactMatch HGNC:28528 Unspecified UGT2A3 +OMIM:616382 skos:exactMatch HGNC_symbol:UGT2A3 Unspecified UGT2A3 +OMIM:300733 skos:exactMatch UMLS:C1825329 Unspecified GAGE12J +OMIM:300733 skos:exactMatch HGNC:17778 Unspecified GAGE12J +OMIM:300733 skos:exactMatch HGNC_symbol:GAGE12J Unspecified GAGE12J +OMIM:616383 skos:exactMatch UMLS:C1823595 Unspecified UGT3A1 +OMIM:616383 skos:exactMatch HGNC_symbol:UGT3A1 Unspecified UGT3A1 +OMIM:616383 skos:exactMatch HGNC:26625 Unspecified UGT3A1 +OMIM:300732 skos:exactMatch UMLS:C1825337 Unspecified GAGE12H +OMIM:300732 skos:exactMatch HGNC_symbol:GAGE12H Unspecified GAGE12H +OMIM:300732 skos:exactMatch HGNC:31908 Unspecified GAGE12H +OMIM:616384 skos:exactMatch UMLS:C1823596 Unspecified UGT3A2 +OMIM:616384 skos:exactMatch HGNC_symbol:UGT3A2 Unspecified UGT3A2 +OMIM:616384 skos:exactMatch HGNC:27266 Unspecified UGT3A2 +OMIM:300735 skos:exactMatch UMLS:C2239468 Unspecified GAGE2D +OMIM:300735 skos:exactMatch HGNC:31959 Unspecified GAGE2D +OMIM:300735 skos:exactMatch HGNC_symbol:GAGE2D Unspecified GAGE2D +OMIM:616385 skos:exactMatch HGNC_symbol:LINC01018 Unspecified LINC01018 +OMIM:616385 skos:exactMatch UMLS:C3812940 Unspecified LINC01018 +OMIM:616385 skos:exactMatch HGNC:27394 Unspecified LINC01018 +OMIM:616386 skos:exactMatch HGNC_symbol:KCTD17 Unspecified KCTD17 +OMIM:616386 skos:exactMatch HGNC:25705 Unspecified KCTD17 +OMIM:616386 skos:exactMatch UMLS:C1537437 Unspecified KCTD17 +OMIM:300734 skos:exactMatch UMLS:C1825330 Unspecified GAGE13 +OMIM:300734 skos:exactMatch HGNC_symbol:GAGE13 Unspecified GAGE13 +OMIM:300734 skos:exactMatch HGNC:29081 Unspecified GAGE13 +OMIM:300737 skos:exactMatch HGNC:30968 Unspecified GAGE10 +OMIM:300737 skos:exactMatch UMLS:C1825328 Unspecified GAGE10 +OMIM:300737 skos:exactMatch HGNC_symbol:GAGE10 Unspecified GAGE10 +OMIM:616387 skos:exactMatch HGNC:27082 Unspecified DRAIC +OMIM:616387 skos:exactMatch UMLS:C3889562 Unspecified DRAIC +OMIM:616387 skos:exactMatch HGNC_symbol:DRAIC Unspecified DRAIC +OMIM:300736 skos:exactMatch HGNC:31960 Unspecified GAGE2E +OMIM:300736 skos:exactMatch UMLS:C2242852 Unspecified GAGE2E +OMIM:300736 skos:exactMatch HGNC_symbol:GAGE2E Unspecified GAGE2E +OMIM:616388 skos:exactMatch HGNC_symbol:UBTD1 Unspecified UBTD1 +OMIM:616388 skos:exactMatch HGNC:25683 Unspecified UBTD1 +OMIM:616388 skos:exactMatch UMLS:C1540155 Unspecified UBTD1 +OMIM:300739 skos:exactMatch HGNC:4110 Unspecified PAGE3 +OMIM:300739 skos:exactMatch HGNC_symbol:PAGE3 Unspecified PAGE3 +OMIM:300739 skos:exactMatch UMLS:C1538568 Unspecified PAGE3 +OMIM:616389 skos:exactMatch UMLS:C4225345 Unspecified night blindness, congenital stationary, iia 1g +OMIM:300738 skos:exactMatch HGNC:31804 Unspecified PAGE2 +OMIM:300738 skos:exactMatch HGNC_symbol:PAGE2 Unspecified PAGE2 +OMIM:300738 skos:exactMatch UMLS:C1538567 Unspecified PAGE2 +OMIM:300740 skos:exactMatch HGNC_symbol:XAGE3 Unspecified XAGE3 +OMIM:300740 skos:exactMatch HGNC:14618 Unspecified XAGE3 +OMIM:300740 skos:exactMatch UMLS:C1538120 Unspecified XAGE3 +OMIM:300742 skos:exactMatch HGNC:4111 Unspecified XAGE1A +OMIM:300742 skos:exactMatch UMLS:C2678009 Unspecified XAGE1A +OMIM:300742 skos:exactMatch HGNC_symbol:XAGE1A Unspecified XAGE1A +OMIM:616370 skos:exactMatch UMLS:C4225348 Unspecified multiple mitochondrial dysfunctions syndrome 4 +OMIM:300741 skos:exactMatch UMLS:C1825258 Unspecified FAM120C +OMIM:300741 skos:exactMatch HGNC:16949 Unspecified FAM120C +OMIM:300741 skos:exactMatch HGNC_symbol:FAM120C Unspecified FAM120C +OMIM:616371 skos:exactMatch UMLS:C4225347 Unspecified pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 +OMIM:616372 skos:exactMatch HGNC:20229 Unspecified DCAF4 +OMIM:616372 skos:exactMatch UMLS:C1538075 Unspecified DCAF4 +OMIM:616372 skos:exactMatch HGNC_symbol:DCAF4 Unspecified DCAF4 +OMIM:300744 skos:exactMatch UMLS:C1823867 Unspecified +OMIM:300743 skos:exactMatch UMLS:C1823866 Unspecified +OMIM:616373 skos:exactMatch UMLS:C4225346 Unspecified pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 +OMIM:300746 skos:exactMatch UMLS:C4016497 Unspecified F9 +OMIM:300746 skos:exactMatch UMLS:C4016495 Unspecified F9 +OMIM:300746 skos:exactMatch UMLS:C4016496 Unspecified F9 +OMIM:300746 skos:exactMatch UMLS:C5393318 Unspecified F9 +OMIM:300746 skos:exactMatch UMLS:C2749016 Unspecified F9 +OMIM:300746 skos:exactMatch UMLS:C0008533 Unspecified F9 +OMIM:300746 skos:exactMatch HGNC:3551 Unspecified F9 +OMIM:300746 skos:exactMatch UMLS:C1366464 Unspecified F9 +OMIM:300746 skos:exactMatch HGNC_symbol:F9 Unspecified F9 +OMIM:300746 skos:exactMatch UMLS:C3275410 Unspecified F9 +OMIM:616374 skos:exactMatch HGNC_symbol:BEND3 Unspecified BEND3 +OMIM:616374 skos:exactMatch UMLS:C2681182 Unspecified BEND3 +OMIM:616374 skos:exactMatch HGNC:23040 Unspecified BEND3 +OMIM:616375 skos:exactMatch HGNC:29369 Unspecified UNK +OMIM:616375 skos:exactMatch UMLS:C1823916 Unspecified UNK +OMIM:616375 skos:exactMatch HGNC_symbol:UNK Unspecified UNK +OMIM:300745 skos:exactMatch UMLS:C1823869 Unspecified +OMIM:300748 skos:exactMatch HGNC:4533 Unspecified GPR82 +OMIM:300748 skos:exactMatch UMLS:C1415264 Unspecified GPR82 +OMIM:300748 skos:exactMatch HGNC_symbol:GPR82 Unspecified GPR82 +OMIM:616376 skos:exactMatch HGNC_symbol:MIR656 Unspecified MIR656 +OMIM:616376 skos:exactMatch HGNC:32912 Unspecified MIR656 +OMIM:616376 skos:exactMatch UMLS:C1826235 Unspecified MIR656 +OMIM:300747 skos:exactMatch HGNC_symbol:STS Unspecified STS +OMIM:300747 skos:exactMatch HGNC:11425 Unspecified STS +OMIM:300747 skos:exactMatch UMLS:C1420490 Unspecified STS +OMIM:616377 skos:exactMatch HGNC:17325 Unspecified PRODH2 +OMIM:616377 skos:exactMatch UMLS:C1424903 Unspecified PRODH2 +OMIM:616377 skos:exactMatch HGNC_symbol:PRODH2 Unspecified PRODH2 +OMIM:616378 skos:exactMatch HGNC:18402 Unspecified UBXN1 +OMIM:616378 skos:exactMatch UMLS:C2681104 Unspecified UBXN1 +OMIM:616378 skos:exactMatch HGNC_symbol:UBXN1 Unspecified UBXN1 +OMIM:300749 skos:exactMatch UMLS:C2677903 Unspecified intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia +OMIM:616379 skos:exactMatch HGNC:29119 Unspecified UBXN7 +OMIM:616379 skos:exactMatch UMLS:C1823586 Unspecified UBXN7 +OMIM:616379 skos:exactMatch HGNC_symbol:UBXN7 Unspecified UBXN7 +OMIM:604390 skos:exactMatch HGNC_symbol:GNG11 Unspecified GNG11 +OMIM:604390 skos:exactMatch HGNC:4403 Unspecified GNG11 +OMIM:604390 skos:exactMatch UMLS:C1415154 Unspecified GNG11 +OMIM:604392 skos:exactMatch UMLS:C1412303 Unspecified AIPL1 +OMIM:604392 skos:exactMatch UMLS:C1858386 Unspecified AIPL1 +OMIM:604392 skos:exactMatch HGNC_symbol:AIPL1 Unspecified AIPL1 +OMIM:604392 skos:exactMatch HGNC:359 Unspecified AIPL1 +OMIM:604392 skos:exactMatch UMLS:C2751763 Unspecified AIPL1 +OMIM:604392 skos:exactMatch UMLS:C2751764 Unspecified AIPL1 +OMIM:604391 skos:exactMatch UMLS:C4012790 Unspecified ataxia-telangiectasia-like disorder 1 +OMIM:604394 skos:exactMatch HGNC_symbol:GNA12 Unspecified GNA12 +OMIM:604394 skos:exactMatch UMLS:C1333684 Unspecified GNA12 +OMIM:604394 skos:exactMatch HGNC:4380 Unspecified GNA12 +OMIM:251400 skos:exactMatch UMLS:C0266200 Unspecified microcolon +OMIM:604393 skos:exactMatch ORPHA:65 Unspecified leber congenital amaurosis 4 +OMIM:604393 skos:exactMatch UMLS:C1858386 Unspecified leber congenital amaurosis 4 +OMIM:604393 skos:exactMatch ORPHA:1872 Unspecified leber congenital amaurosis 4 +OMIM:604393 skos:exactMatch ORPHA:791 Unspecified leber congenital amaurosis 4 +OMIM:604396 skos:exactMatch HGNC_symbol:SETDB1 Unspecified SETDB1 +OMIM:604396 skos:exactMatch UMLS:C1335812 Unspecified SETDB1 +OMIM:604396 skos:exactMatch HGNC:10761 Unspecified SETDB1 +OMIM:604395 skos:exactMatch HGNC_symbol:MLH3 Unspecified MLH3 +OMIM:604395 skos:exactMatch HGNC:7128 Unspecified MLH3 +OMIM:604395 skos:exactMatch UMLS:C1334511 Unspecified MLH3 +OMIM:604398 skos:exactMatch HGNC:7051 Unspecified SCGB2A1 +OMIM:604398 skos:exactMatch HGNC_symbol:SCGB2A1 Unspecified SCGB2A1 +OMIM:604398 skos:exactMatch UMLS:C1417140 Unspecified SCGB2A1 +OMIM:604397 skos:exactMatch UMLS:C1415140 Unspecified GNA14 +OMIM:604397 skos:exactMatch HGNC_symbol:GNA14 Unspecified GNA14 +OMIM:604397 skos:exactMatch HGNC:4382 Unspecified GNA14 +OMIM:604399 skos:exactMatch HGNC_symbol:PPP1R1B Unspecified PPP1R1B +OMIM:604399 skos:exactMatch HGNC:9287 Unspecified PPP1R1B +OMIM:604399 skos:exactMatch UMLS:C1418825 Unspecified PPP1R1B +OMIM:131600 skos:exactMatch UMLS:C0014511 Unspecified epidermoid cysts +OMIM:226400 skos:exactMatch UMLS:C4722564 Unspecified epidermodysplasia verruciformis, susceptibility to, 1 +OMIM:226400 skos:exactMatch UMLS:C0014522 Unspecified epidermodysplasia verruciformis, susceptibility to, 1 +OMIM:214450 skos:exactMatch UMLS:C1859194 Unspecified griscelli syndrome, iia 1 +OMIM:226440 skos:exactMatch UMLS:C1856969 Unspecified epidermolysis bullosa, late-onset localized junctional, with mental retardation +OMIM:202400 skos:exactMatch UMLS:C2584774 Unspecified afibrinogenemia, congenital +OMIM:155600 skos:exactMatch UMLS:C2314896 Unspecified melanoma, cutaneous malignant, susceptibility to, 1 +OMIM:155600 skos:exactMatch UMLS:C1835047 Unspecified melanoma, cutaneous malignant, susceptibility to, 1 +OMIM:155600 skos:exactMatch UMLS:C0151779 Unspecified melanoma, cutaneous malignant, susceptibility to, 1 +OMIM:155601 skos:exactMatch UMLS:C1835044 Unspecified melanoma, cutaneous malignant, susceptibility to, 2 +OMIM:214400 skos:exactMatch UMLS:C1859198 Unspecified charcot-marie-tooth disease, iia 4a +OMIM:214400 skos:exactMatch ORPHA:99948 Unspecified charcot-marie-tooth disease, iia 4a +OMIM:167600 skos:exactMatch UMLS:C1868661 Unspecified palmaris longus muscle, absence of +OMIM:131560 skos:exactMatch HGNC_symbol:FLOT2 Unspecified FLOT2 +OMIM:131560 skos:exactMatch HGNC:3758 Unspecified FLOT2 +OMIM:131560 skos:exactMatch UMLS:C1414639 Unspecified FLOT2 +OMIM:167500 skos:exactMatch UMLS:C0042454 Unspecified palatopharyngeal incompetence +OMIM:180500 skos:exactMatch UMLS:C3714873 Unspecified axenfeld-rieger syndrome, iia 1 +OMIM:155550 skos:exactMatch HGNC_symbol:PMEL Unspecified PMEL +OMIM:155550 skos:exactMatch UMLS:C1420066 Unspecified PMEL +OMIM:155550 skos:exactMatch HGNC:10880 Unspecified PMEL +OMIM:155555 skos:exactMatch UMLS:C1417061 Unspecified MC1R +OMIM:155555 skos:exactMatch HGNC:6929 Unspecified MC1R +OMIM:155555 skos:exactMatch HGNC_symbol:MC1R Unspecified MC1R +OMIM:179514 skos:exactMatch UMLS:C1419213 Unspecified RAB5B +OMIM:179514 skos:exactMatch HGNC_symbol:RAB5B Unspecified RAB5B +OMIM:179514 skos:exactMatch HGNC:9784 Unspecified RAB5B +OMIM:179512 skos:exactMatch UMLS:C1419212 Unspecified RAB5A +OMIM:179512 skos:exactMatch HGNC_symbol:RAB5A Unspecified RAB5A +OMIM:179512 skos:exactMatch HGNC:9783 Unspecified RAB5A +OMIM:179513 skos:exactMatch UMLS:C1419215 Unspecified RAB6A +OMIM:179513 skos:exactMatch HGNC_symbol:RAB6A Unspecified RAB6A +OMIM:179513 skos:exactMatch HGNC:9786 Unspecified RAB6A +OMIM:179510 skos:exactMatch UMLS:C1419207 Unspecified RAB3B +OMIM:179510 skos:exactMatch HGNC_symbol:RAB3B Unspecified RAB3B +OMIM:179510 skos:exactMatch HGNC:9778 Unspecified RAB3B +OMIM:179511 skos:exactMatch UMLS:C1419210 Unspecified RAB4A +OMIM:179511 skos:exactMatch HGNC_symbol:RAB4A Unspecified RAB4A +OMIM:179511 skos:exactMatch HGNC:9781 Unspecified RAB4A +OMIM:155540 skos:exactMatch HGNC:6931 Unspecified MC3R +OMIM:155540 skos:exactMatch UMLS:C1417063 Unspecified MC3R +OMIM:155540 skos:exactMatch HGNC_symbol:MC3R Unspecified MC3R +OMIM:155541 skos:exactMatch UMLS:C1417064 Unspecified MC4R +OMIM:155541 skos:exactMatch HGNC:6932 Unspecified MC4R +OMIM:155541 skos:exactMatch UMLS:C5193151 Unspecified MC4R +OMIM:155541 skos:exactMatch UMLS:C5193167 Unspecified MC4R +OMIM:155541 skos:exactMatch UMLS:C5193166 Unspecified MC4R +OMIM:155541 skos:exactMatch HGNC_symbol:MC4R Unspecified MC4R +OMIM:128000 skos:exactMatch UMLS:C1851955 Unspecified dystelephalangy +OMIM:179509 skos:exactMatch HGNC:9763 Unspecified RAB2 +OMIM:179509 skos:exactMatch UMLS:C1826755 Unspecified RAB2 +OMIM:179509 skos:exactMatch HGNC_symbol:RAB2A Unspecified RAB2 +OMIM:179508 skos:exactMatch HGNC:9758 Unspecified RAB1 +OMIM:179508 skos:exactMatch UMLS:C1419187 Unspecified RAB1 +OMIM:179508 skos:exactMatch HGNC_symbol:RAB1A Unspecified RAB1 +OMIM:179505 skos:exactMatch UMLS:C1412519 Unspecified RHOG +OMIM:179505 skos:exactMatch HGNC_symbol:RHOG Unspecified RHOG +OMIM:179505 skos:exactMatch HGNC:672 Unspecified RHOG +OMIM:179503 skos:exactMatch UMLS:C0919455 Unspecified RRAD +OMIM:179503 skos:exactMatch HGNC_symbol:RRAD Unspecified RRAD +OMIM:179503 skos:exactMatch HGNC:10446 Unspecified RRAD +OMIM:179503 skos:exactMatch UMLS:C1867391 Unspecified RRAD +OMIM:179502 skos:exactMatch UMLS:C1419268 Unspecified RAP1GDS1 +OMIM:179502 skos:exactMatch UMLS:C1867392 Unspecified RAP1GDS1 +OMIM:179502 skos:exactMatch HGNC_symbol:RAP1GDS1 Unspecified RAP1GDS1 +OMIM:179502 skos:exactMatch HGNC:9859 Unspecified RAP1GDS1 +OMIM:179500 skos:exactMatch UMLS:C1867393 Unspecified raindrop hypopigmentation +OMIM:606911 skos:exactMatch UMLS:C1419839 Unspecified SCAMP1 +OMIM:606911 skos:exactMatch HGNC:10563 Unspecified SCAMP1 +OMIM:606911 skos:exactMatch HGNC_symbol:SCAMP1 Unspecified SCAMP1 +OMIM:606912 skos:exactMatch UMLS:C1419840 Unspecified SCAMP2 +OMIM:606912 skos:exactMatch HGNC:10564 Unspecified SCAMP2 +OMIM:606912 skos:exactMatch HGNC_symbol:SCAMP2 Unspecified SCAMP2 +OMIM:606910 skos:exactMatch HGNC:993 Unspecified BCL2L10 +OMIM:606910 skos:exactMatch HGNC_symbol:BCL2L10 Unspecified BCL2L10 +OMIM:606910 skos:exactMatch UMLS:C1412762 Unspecified BCL2L10 +OMIM:606915 skos:exactMatch HGNC_symbol:GPR63 Unspecified GPR63 +OMIM:606915 skos:exactMatch UMLS:C1421928 Unspecified GPR63 +OMIM:606915 skos:exactMatch HGNC:13302 Unspecified GPR63 +OMIM:606916 skos:exactMatch HGNC_symbol:GPR61 Unspecified GPR61 +OMIM:606916 skos:exactMatch HGNC:13300 Unspecified GPR61 +OMIM:606916 skos:exactMatch UMLS:C1421926 Unspecified GPR61 +OMIM:606913 skos:exactMatch UMLS:C1419841 Unspecified SCAMP3 +OMIM:606913 skos:exactMatch HGNC:10565 Unspecified SCAMP3 +OMIM:606913 skos:exactMatch HGNC_symbol:SCAMP3 Unspecified SCAMP3 +OMIM:180530 skos:exactMatch HGNC_symbol:RPLP2 Unspecified RPLP2 +OMIM:180530 skos:exactMatch UMLS:C1419693 Unspecified RPLP2 +OMIM:180530 skos:exactMatch HGNC:10377 Unspecified RPLP2 +OMIM:606914 skos:exactMatch UMLS:C1418607 Unspecified PKIB +OMIM:606914 skos:exactMatch HGNC_symbol:PKIB Unspecified PKIB +OMIM:606914 skos:exactMatch HGNC:9018 Unspecified PKIB +OMIM:606919 skos:exactMatch HGNC_symbol:CERS1 Unspecified CERS1 +OMIM:606919 skos:exactMatch UMLS:C1422514 Unspecified CERS1 +OMIM:606919 skos:exactMatch HGNC:14253 Unspecified CERS1 +OMIM:606917 skos:exactMatch HGNC_symbol:GPR62 Unspecified GPR62 +OMIM:606917 skos:exactMatch HGNC:13301 Unspecified GPR62 +OMIM:606917 skos:exactMatch UMLS:C1421927 Unspecified GPR62 +OMIM:606918 skos:exactMatch HGNC_symbol:GOLGA5 Unspecified GOLGA5 +OMIM:606918 skos:exactMatch HGNC:4428 Unspecified GOLGA5 +OMIM:606918 skos:exactMatch UMLS:C1415177 Unspecified GOLGA5 +OMIM:606918 skos:exactMatch UMLS:C1847162 Unspecified GOLGA5 +OMIM:118670 skos:exactMatch UMLS:C3887693 Unspecified chondronectin +OMIM:179530 skos:exactMatch HGNC:9857 Unspecified RAP1B +OMIM:179530 skos:exactMatch HGNC_symbol:RAP1B Unspecified RAP1B +OMIM:179530 skos:exactMatch UMLS:C1419266 Unspecified RAP1B +OMIM:180535 skos:exactMatch UMLS:C1419704 Unspecified RPS15 +OMIM:180535 skos:exactMatch HGNC_symbol:RPS15 Unspecified RPS15 +OMIM:180535 skos:exactMatch HGNC:10388 Unspecified RPS15 +OMIM:606900 skos:exactMatch HGNC:13628 Unspecified CACNG8 +OMIM:606900 skos:exactMatch UMLS:C1422116 Unspecified CACNG8 +OMIM:606900 skos:exactMatch HGNC_symbol:CACNG8 Unspecified CACNG8 +OMIM:606905 skos:exactMatch HGNC_symbol:PREX1 Unspecified PREX1 +OMIM:606905 skos:exactMatch UMLS:C1847163 Unspecified PREX1 +OMIM:606905 skos:exactMatch HGNC:32594 Unspecified PREX1 +OMIM:606902 skos:exactMatch UMLS:C1538758 Unspecified PYGO1 +OMIM:606902 skos:exactMatch HGNC_symbol:PYGO1 Unspecified PYGO1 +OMIM:606902 skos:exactMatch HGNC:30256 Unspecified PYGO1 +OMIM:606903 skos:exactMatch HGNC:30257 Unspecified PYGO2 +OMIM:606903 skos:exactMatch UMLS:C1538759 Unspecified PYGO2 +OMIM:606903 skos:exactMatch HGNC_symbol:PYGO2 Unspecified PYGO2 +OMIM:606908 skos:exactMatch HGNC_symbol:ARFGAP2 Unspecified ARFGAP2 +OMIM:606908 skos:exactMatch HGNC:13504 Unspecified ARFGAP2 +OMIM:606908 skos:exactMatch UMLS:C1422025 Unspecified ARFGAP2 +OMIM:606909 skos:exactMatch HGNC:12645 Unspecified VAMP4 +OMIM:606909 skos:exactMatch HGNC_symbol:VAMP4 Unspecified VAMP4 +OMIM:606909 skos:exactMatch UMLS:C1421421 Unspecified VAMP4 +OMIM:606906 skos:exactMatch HGNC_symbol:MRM2 Unspecified MRM2 +OMIM:606906 skos:exactMatch UMLS:C1424210 Unspecified MRM2 +OMIM:606906 skos:exactMatch HGNC:16352 Unspecified MRM2 +OMIM:606907 skos:exactMatch HGNC:13916 Unspecified APOM +OMIM:606907 skos:exactMatch UMLS:C1422268 Unspecified APOM +OMIM:606907 skos:exactMatch HGNC_symbol:APOM Unspecified APOM +OMIM:118661 skos:exactMatch HGNC_symbol:VCAN Unspecified VCAN +OMIM:118661 skos:exactMatch HGNC:2464 Unspecified VCAN +OMIM:118661 skos:exactMatch UMLS:C1413763 Unspecified VCAN +OMIM:179520 skos:exactMatch HGNC:9855 Unspecified RAP1A +OMIM:179520 skos:exactMatch UMLS:C1335590 Unspecified RAP1A +OMIM:179520 skos:exactMatch HGNC_symbol:RAP1A Unspecified RAP1A +OMIM:118651 skos:exactMatch UMLS:C0432224 Unspecified chondrodysplasia punctata, tibia-metacarpal iia +OMIM:118650 skos:exactMatch UMLS:C1861578 Unspecified chondrodysplasia punctata, autosomal dominant +OMIM:118650 skos:exactMatch UMLS:C1861579 Unspecified chondrodysplasia punctata, autosomal dominant +OMIM:118650 skos:exactMatch UMLS:C1442935 Unspecified chondrodysplasia punctata, autosomal dominant +OMIM:180510 skos:exactMatch UMLS:C1419691 Unspecified RPLP0 +OMIM:180510 skos:exactMatch HGNC_symbol:RPLP0 Unspecified RPLP0 +OMIM:180510 skos:exactMatch HGNC:10371 Unspecified RPLP0 +OMIM:179555 skos:exactMatch UMLS:C1335652 Unspecified RSU1 +OMIM:179555 skos:exactMatch HGNC_symbol:RSU1 Unspecified RSU1 +OMIM:179555 skos:exactMatch HGNC:10464 Unspecified RSU1 +OMIM:179550 skos:exactMatch HGNC:9839 Unspecified RALA +OMIM:179550 skos:exactMatch HGNC_symbol:RALA Unspecified RALA +OMIM:179550 skos:exactMatch UMLS:C0812284 Unspecified RALA +OMIM:179551 skos:exactMatch HGNC_symbol:RALB Unspecified RALB +OMIM:179551 skos:exactMatch HGNC:9840 Unspecified RALB +OMIM:179551 skos:exactMatch UMLS:C0812283 Unspecified RALB +OMIM:192500 skos:exactMatch ORPHA:101016 Unspecified long qt syndrome 1 +OMIM:192500 skos:exactMatch UMLS:C3277700 Unspecified long qt syndrome 1 +OMIM:192500 skos:exactMatch UMLS:C4551647 Unspecified long qt syndrome 1 +OMIM:192500 skos:exactMatch ORPHA:768 Unspecified long qt syndrome 1 +OMIM:180520 skos:exactMatch UMLS:C1419692 Unspecified RPLP1 +OMIM:180520 skos:exactMatch HGNC_symbol:RPLP1 Unspecified RPLP1 +OMIM:180520 skos:exactMatch HGNC:10372 Unspecified RPLP1 +OMIM:104000 skos:exactMatch UMLS:C0263505 Unspecified alopecia areata 1 +OMIM:104000 skos:exactMatch UMLS:C1863094 Unspecified alopecia areata 1 +OMIM:179541 skos:exactMatch HGNC:9862 Unspecified RAP2B +OMIM:179541 skos:exactMatch HGNC_symbol:RAP2B Unspecified RAP2B +OMIM:179541 skos:exactMatch UMLS:C1419270 Unspecified RAP2B +OMIM:179540 skos:exactMatch HGNC:9861 Unspecified RAP2A +OMIM:179540 skos:exactMatch HGNC_symbol:RAP2A Unspecified RAP2A +OMIM:179540 skos:exactMatch UMLS:C1419269 Unspecified RAP2A +OMIM:300791 skos:exactMatch HGNC_symbol:NRK Unspecified NRK +OMIM:300791 skos:exactMatch HGNC:25391 Unspecified NRK +OMIM:300791 skos:exactMatch UMLS:C1538486 Unspecified NRK +OMIM:606956 skos:exactMatch HGNC_symbol:ZNF256 Unspecified ZNF256 +OMIM:606956 skos:exactMatch UMLS:C1421743 Unspecified ZNF256 +OMIM:606956 skos:exactMatch HGNC:13049 Unspecified ZNF256 +OMIM:300790 skos:exactMatch UMLS:C2681388 Unspecified CT47B1 +OMIM:300790 skos:exactMatch HGNC_symbol:CT47B1 Unspecified CT47B1 +OMIM:300790 skos:exactMatch HGNC:33293 Unspecified CT47B1 +OMIM:300793 skos:exactMatch UMLS:C2681372 Unspecified CT45A2 +OMIM:300793 skos:exactMatch HGNC_symbol:CT45A2 Unspecified CT45A2 +OMIM:300793 skos:exactMatch HGNC:28400 Unspecified CT45A2 +OMIM:606953 skos:exactMatch UMLS:C1439333 Unspecified GALE +OMIM:606953 skos:exactMatch UMLS:C4017048 Unspecified GALE +OMIM:606953 skos:exactMatch HGNC_symbol:GALE Unspecified GALE +OMIM:606953 skos:exactMatch HGNC:4116 Unspecified GALE +OMIM:606953 skos:exactMatch UMLS:C0751161 Unspecified GALE +OMIM:606954 skos:exactMatch HGNC:13497 Unspecified ZNF253 +OMIM:606954 skos:exactMatch UMLS:C1422020 Unspecified ZNF253 +OMIM:606954 skos:exactMatch HGNC_symbol:ZNF253 Unspecified ZNF253 +OMIM:300792 skos:exactMatch HGNC:31494 Unspecified MIR106A +OMIM:300792 skos:exactMatch HGNC_symbol:MIR106A Unspecified MIR106A +OMIM:300792 skos:exactMatch UMLS:C1537763 Unspecified MIR106A +OMIM:606959 skos:exactMatch HGNC_symbol:PALS2 Unspecified MPP6 +OMIM:606959 skos:exactMatch UMLS:C1425357 Unspecified MPP6 +OMIM:606959 skos:exactMatch HGNC:18167 Unspecified MPP6 +OMIM:300795 skos:exactMatch UMLS:C2681374 Unspecified CT45A4 +OMIM:300794 skos:exactMatch UMLS:C2681373 Unspecified CT45A3 +OMIM:300794 skos:exactMatch HGNC_symbol:CT45A3 Unspecified CT45A3 +OMIM:300794 skos:exactMatch HGNC:33268 Unspecified CT45A3 +OMIM:606957 skos:exactMatch HGNC_symbol:ZNF257 Unspecified ZNF257 +OMIM:606957 skos:exactMatch HGNC:13498 Unspecified ZNF257 +OMIM:606957 skos:exactMatch UMLS:C1422021 Unspecified ZNF257 +OMIM:300797 skos:exactMatch UMLS:C2681376 Unspecified CT45A6 +OMIM:300797 skos:exactMatch HGNC:33271 Unspecified CT45A6 +OMIM:300797 skos:exactMatch HGNC_symbol:CT45A6 Unspecified CT45A6 +OMIM:606958 skos:exactMatch HGNC:18669 Unspecified MPP5 +OMIM:606958 skos:exactMatch UMLS:C1425695 Unspecified MPP5 +OMIM:606958 skos:exactMatch HGNC_symbol:PALS1 Unspecified MPP5 +OMIM:300796 skos:exactMatch UMLS:C2681375 Unspecified CT45A5 +OMIM:300796 skos:exactMatch HGNC_symbol:CT45A5 Unspecified CT45A5 +OMIM:300796 skos:exactMatch HGNC:33270 Unspecified CT45A5 +OMIM:300799 skos:exactMatch UMLS:C3275406 Unspecified intellectual developmental disorder, x-linked, syndromic, raymond iia +OMIM:300799 skos:exactMatch ORPHA:776 Unspecified intellectual developmental disorder, x-linked, syndromic, raymond iia +OMIM:300799 skos:exactMatch ORPHA:163953 Unspecified intellectual developmental disorder, x-linked, syndromic, raymond iia +OMIM:300798 skos:exactMatch HGNC:8926 Unspecified PHKA2 +OMIM:300798 skos:exactMatch UMLS:C1418533 Unspecified PHKA2 +OMIM:300798 skos:exactMatch HGNC_symbol:PHKA2 Unspecified PHKA2 +OMIM:618940 skos:exactMatch UMLS:C5394548 Unspecified oculopharyngodistal myopathy 2 +OMIM:618940 skos:exactMatch ORPHA:98897 Unspecified oculopharyngodistal myopathy 2 +OMIM:618942 skos:exactMatch UMLS:C5394549 Unspecified IQANK1 +OMIM:618942 skos:exactMatch HGNC_symbol:IQANK1 Unspecified IQANK1 +OMIM:618942 skos:exactMatch HGNC:49576 Unspecified IQANK1 +OMIM:618942 skos:exactMatch UMLS:C4320409 Unspecified IQANK1 +OMIM:618941 skos:exactMatch UMLS:C1824556 Unspecified CCDC32 +OMIM:618941 skos:exactMatch HGNC:28295 Unspecified CCDC32 +OMIM:618941 skos:exactMatch HGNC_symbol:CCDC32 Unspecified CCDC32 +OMIM:618941 skos:exactMatch UMLS:C5436852 Unspecified CCDC32 +OMIM:618933 skos:exactMatch UMLS:C1428402 Unspecified SH3RF3 +OMIM:618933 skos:exactMatch HGNC_symbol:SH3RF3 Unspecified SH3RF3 +OMIM:618933 skos:exactMatch HGNC:24699 Unspecified SH3RF3 +OMIM:618932 skos:exactMatch HGNC_symbol:OST4 Unspecified OST4 +OMIM:618932 skos:exactMatch HGNC:32483 Unspecified OST4 +OMIM:618932 skos:exactMatch UMLS:C2829972 Unspecified OST4 +OMIM:618935 skos:exactMatch UMLS:C5394542 Unspecified granulomatous disease, chronic, autosomal recessive, 5 +OMIM:618935 skos:exactMatch ORPHA:379 Unspecified granulomatous disease, chronic, autosomal recessive, 5 +OMIM:618934 skos:exactMatch HGNC:29349 Unspecified CCSER1 +OMIM:618934 skos:exactMatch UMLS:C2829370 Unspecified CCSER1 +OMIM:618934 skos:exactMatch HGNC_symbol:CCSER1 Unspecified CCSER1 +OMIM:618937 skos:exactMatch HGNC_symbol:PPP1R35 Unspecified PPP1R35 +OMIM:618937 skos:exactMatch HGNC:28320 Unspecified PPP1R35 +OMIM:618937 skos:exactMatch UMLS:C3471437 Unspecified PPP1R35 +OMIM:618936 skos:exactMatch HGNC_symbol:SPATA25 Unspecified SPATA25 +OMIM:618936 skos:exactMatch HGNC:16158 Unspecified SPATA25 +OMIM:618936 skos:exactMatch UMLS:C3469867 Unspecified SPATA25 +OMIM:618939 skos:exactMatch ORPHA:861 Unspecified treacher collins syndrome 4 +OMIM:618939 skos:exactMatch UMLS:C5394546 Unspecified treacher collins syndrome 4 +OMIM:618938 skos:exactMatch HGNC_symbol:LASTR Unspecified LASTR +OMIM:618938 skos:exactMatch UMLS:C5240280 Unspecified LASTR +OMIM:618938 skos:exactMatch HGNC:54143 Unspecified LASTR +OMIM:606962 skos:exactMatch HGNC:12738 Unspecified WBP2 +OMIM:606962 skos:exactMatch HGNC_symbol:WBP2 Unspecified WBP2 +OMIM:606962 skos:exactMatch UMLS:C1421485 Unspecified WBP2 +OMIM:606963 skos:exactMatch UMLS:C1969833 Unspecified pulmonary disease, chronic obstructive +OMIM:606963 skos:exactMatch UMLS:C1847014 Unspecified pulmonary disease, chronic obstructive +OMIM:606963 skos:exactMatch UMLS:C0024117 Unspecified pulmonary disease, chronic obstructive +OMIM:606963 skos:exactMatch UMLS:C2751329 Unspecified pulmonary disease, chronic obstructive +OMIM:604301 skos:exactMatch UMLS:C1417927 Unspecified oculomedin +OMIM:606960 skos:exactMatch UMLS:C1847015 Unspecified insulinoma tumor suppressor gene locus +OMIM:604300 skos:exactMatch HGNC:17856 Unspecified HACL1 +OMIM:604300 skos:exactMatch HGNC_symbol:HACL1 Unspecified HACL1 +OMIM:604300 skos:exactMatch UMLS:C1825446 Unspecified HACL1 +OMIM:606961 skos:exactMatch HGNC_symbol:WBP1 Unspecified WBP1 +OMIM:606961 skos:exactMatch HGNC:12737 Unspecified WBP1 +OMIM:606961 skos:exactMatch UMLS:C1421484 Unspecified WBP1 +OMIM:606944 skos:exactMatch HGNC_symbol:ERBIN Unspecified ERBIN +OMIM:606944 skos:exactMatch HGNC:15842 Unspecified ERBIN +OMIM:606944 skos:exactMatch UMLS:C1333352 Unspecified ERBIN +OMIM:606945 skos:exactMatch HGNC_symbol:LDLR Unspecified LDLR +OMIM:606945 skos:exactMatch UMLS:C1366529 Unspecified LDLR +OMIM:606945 skos:exactMatch HGNC:6547 Unspecified LDLR +OMIM:606942 skos:exactMatch HGNC:2234 Unspecified COPE +OMIM:606942 skos:exactMatch UMLS:C1413608 Unspecified COPE +OMIM:606942 skos:exactMatch HGNC_symbol:COPE Unspecified COPE +OMIM:606943 skos:exactMatch UMLS:C1847089 Unspecified usher syndrome, iia 1g +OMIM:606948 skos:exactMatch HGNC:15713 Unspecified ANAPC5 +OMIM:606948 skos:exactMatch HGNC_symbol:ANAPC5 Unspecified ANAPC5 +OMIM:606948 skos:exactMatch UMLS:C1423676 Unspecified ANAPC5 +OMIM:606949 skos:exactMatch HGNC:17380 Unspecified ANAPC7 +OMIM:606949 skos:exactMatch UMLS:C1424948 Unspecified ANAPC7 +OMIM:606949 skos:exactMatch HGNC_symbol:ANAPC7 Unspecified ANAPC7 +OMIM:606946 skos:exactMatch HGNC:19989 Unspecified ANAPC2 +OMIM:606946 skos:exactMatch UMLS:C1426586 Unspecified ANAPC2 +OMIM:606946 skos:exactMatch HGNC_symbol:ANAPC2 Unspecified ANAPC2 +OMIM:606947 skos:exactMatch HGNC:19990 Unspecified ANAPC4 +OMIM:606947 skos:exactMatch UMLS:C1426587 Unspecified ANAPC4 +OMIM:606947 skos:exactMatch HGNC_symbol:ANAPC4 Unspecified ANAPC4 +OMIM:118610 skos:exactMatch UMLS:C1861580 Unspecified chondrocalcinosis due to apatite crystal deposition +OMIM:618931 skos:exactMatch HGNC:29271 Unspecified ZNFX1 +OMIM:618931 skos:exactMatch HGNC_symbol:ZNFX1 Unspecified ZNFX1 +OMIM:618931 skos:exactMatch UMLS:C1824076 Unspecified ZNFX1 +OMIM:618930 skos:exactMatch HGNC_symbol:ANKRD18B Unspecified ANKRD18B +OMIM:618930 skos:exactMatch UMLS:C1538281 Unspecified ANKRD18B +OMIM:618930 skos:exactMatch HGNC:23644 Unspecified ANKRD18B +OMIM:618922 skos:exactMatch UMLS:C5394517 Unspecified neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +OMIM:312780 skos:exactMatch UMLS:C0220775 Unspecified russell-silver syndrome, X-linked +OMIM:275370 skos:exactMatch UMLS:C1848746 Unspecified tricarboxylic acid cycle, defect of +OMIM:618921 skos:exactMatch HGNC_symbol:LACTB2 Unspecified LACTB2 +OMIM:618921 skos:exactMatch HGNC:18512 Unspecified LACTB2 +OMIM:618921 skos:exactMatch UMLS:C1425568 Unspecified LACTB2 +OMIM:618924 skos:exactMatch UMLS:C5394520 Unspecified episodic ataxia, iia 9 +OMIM:618923 skos:exactMatch HGNC:34524 Unspecified FABP12 +OMIM:618923 skos:exactMatch UMLS:C2681462 Unspecified FABP12 +OMIM:618923 skos:exactMatch HGNC_symbol:FABP12 Unspecified FABP12 +OMIM:618926 skos:exactMatch UMLS:C1417948 Unspecified OMD +OMIM:618926 skos:exactMatch HGNC:8134 Unspecified OMD +OMIM:618926 skos:exactMatch HGNC_symbol:OMD Unspecified OMD +OMIM:618925 skos:exactMatch HGNC:30057 Unspecified GPR171 +OMIM:618925 skos:exactMatch UMLS:C1539606 Unspecified GPR171 +OMIM:618925 skos:exactMatch HGNC_symbol:GPR171 Unspecified GPR171 +OMIM:618928 skos:exactMatch UMLS:C1537556 Unspecified LDHAL6A +OMIM:618928 skos:exactMatch HGNC:28335 Unspecified LDHAL6A +OMIM:618928 skos:exactMatch HGNC_symbol:LDHAL6A Unspecified LDHAL6A +OMIM:618927 skos:exactMatch HGNC:33902 Unspecified KRTAP24-1 +OMIM:618927 skos:exactMatch HGNC_symbol:KRTAP24-1 Unspecified KRTAP24-1 +OMIM:618927 skos:exactMatch UMLS:C2239642 Unspecified KRTAP24-1 +OMIM:618929 skos:exactMatch UMLS:C5394523 Unspecified agenesis of corpus callosum, cardiac, ocular, and genital syndrome +OMIM:606951 skos:exactMatch UMLS:C3888244 Unspecified IFIH1 +OMIM:606951 skos:exactMatch UMLS:C4225427 Unspecified IFIH1 +OMIM:606951 skos:exactMatch UMLS:C1537399 Unspecified IFIH1 +OMIM:606951 skos:exactMatch HGNC_symbol:IFIH1 Unspecified IFIH1 +OMIM:606951 skos:exactMatch HGNC:18873 Unspecified IFIH1 +OMIM:606952 skos:exactMatch UMLS:C1847024 Unspecified albinism, oculocutaneous, iia 1b +OMIM:606952 skos:exactMatch ORPHA:352731 Unspecified albinism, oculocutaneous, iia 1b +OMIM:606952 skos:exactMatch ORPHA:352737 Unspecified albinism, oculocutaneous, iia 1b +OMIM:606952 skos:exactMatch ORPHA:79434 Unspecified albinism, oculocutaneous, iia 1b +OMIM:606950 skos:exactMatch UMLS:C1823485 Unspecified TRHDE +OMIM:606950 skos:exactMatch HGNC:30748 Unspecified TRHDE +OMIM:606950 skos:exactMatch HGNC_symbol:TRHDE Unspecified TRHDE +OMIM:606933 skos:exactMatch UMLS:C1421250 Unspecified TYR +OMIM:606933 skos:exactMatch UMLS:C4225528 Unspecified TYR +OMIM:606933 skos:exactMatch UMLS:C1847024 Unspecified TYR +OMIM:606933 skos:exactMatch UMLS:C1847132 Unspecified TYR +OMIM:606933 skos:exactMatch UMLS:C3149136 Unspecified TYR +OMIM:606933 skos:exactMatch UMLS:C2677190 Unspecified TYR +OMIM:606933 skos:exactMatch UMLS:C4551504 Unspecified TYR +OMIM:606933 skos:exactMatch UMLS:C3152204 Unspecified TYR +OMIM:606933 skos:exactMatch HGNC:12442 Unspecified TYR +OMIM:606933 skos:exactMatch HGNC_symbol:TYR Unspecified TYR +OMIM:606934 skos:exactMatch HGNC:18828 Unspecified NDUFAF1 +OMIM:606934 skos:exactMatch UMLS:C1425806 Unspecified NDUFAF1 +OMIM:606934 skos:exactMatch HGNC_symbol:NDUFAF1 Unspecified NDUFAF1 +OMIM:300771 skos:exactMatch HGNC:28336 Unspecified TCEAL7 +OMIM:300771 skos:exactMatch UMLS:C1539945 Unspecified TCEAL7 +OMIM:300771 skos:exactMatch HGNC_symbol:TCEAL7 Unspecified TCEAL7 +OMIM:606932 skos:exactMatch HGNC_symbol:VPS29 Unspecified VPS29 +OMIM:606932 skos:exactMatch HGNC:14340 Unspecified VPS29 +OMIM:606932 skos:exactMatch UMLS:C1422577 Unspecified VPS29 +OMIM:300770 skos:exactMatch UMLS:C2677877 Unspecified surfactant metabolism dysfunction, pulmonary, 4 +OMIM:300773 skos:exactMatch HGNC:17889 Unspecified APEX2 +OMIM:300773 skos:exactMatch HGNC_symbol:APEX2 Unspecified APEX2 +OMIM:300773 skos:exactMatch UMLS:C1425157 Unspecified APEX2 +OMIM:180550 skos:exactMatch ORPHA:91481 Unspecified ring dermoid of cornea +OMIM:180550 skos:exactMatch UMLS:C1867155 Unspecified ring dermoid of cornea +OMIM:606938 skos:exactMatch HGNC:12592 Unspecified UROS +OMIM:606938 skos:exactMatch UMLS:C1421375 Unspecified UROS +OMIM:606938 skos:exactMatch HGNC_symbol:UROS Unspecified UROS +OMIM:300772 skos:exactMatch HGNC_symbol:TFDP3 Unspecified TFDP3 +OMIM:300772 skos:exactMatch UMLS:C1539954 Unspecified TFDP3 +OMIM:300772 skos:exactMatch HGNC:24603 Unspecified TFDP3 +OMIM:606935 skos:exactMatch HGNC_symbol:RBM17 Unspecified RBM17 +OMIM:606935 skos:exactMatch HGNC:16944 Unspecified RBM17 +OMIM:606935 skos:exactMatch UMLS:C1424655 Unspecified RBM17 +OMIM:300775 skos:exactMatch HGNC_symbol:ELF4 Unspecified ELF4 +OMIM:300775 skos:exactMatch UMLS:C1414377 Unspecified ELF4 +OMIM:300775 skos:exactMatch HGNC:3319 Unspecified ELF4 +OMIM:606936 skos:exactMatch HGNC:17993 Unspecified TRPM4 +OMIM:606936 skos:exactMatch HGNC_symbol:TRPM4 Unspecified TRPM4 +OMIM:606936 skos:exactMatch UMLS:C1425223 Unspecified TRPM4 +OMIM:300774 skos:exactMatch HGNC:16499 Unspecified RAB39B +OMIM:300774 skos:exactMatch HGNC_symbol:RAB39B Unspecified RAB39B +OMIM:300774 skos:exactMatch UMLS:C1424331 Unspecified RAB39B +OMIM:300777 skos:exactMatch UMLS:C1425437 Unspecified TMLHE +OMIM:300777 skos:exactMatch HGNC_symbol:TMLHE Unspecified TMLHE +OMIM:300777 skos:exactMatch HGNC:18308 Unspecified TMLHE +OMIM:300776 skos:exactMatch UMLS:C1823172 Unspecified ALG13 +OMIM:300776 skos:exactMatch UMLS:C2986382 Unspecified ALG13 +OMIM:300776 skos:exactMatch UMLS:C3550904 Unspecified ALG13 +OMIM:300776 skos:exactMatch HGNC:30881 Unspecified ALG13 +OMIM:300776 skos:exactMatch UMLS:C4317295 Unspecified ALG13 +OMIM:300776 skos:exactMatch HGNC_symbol:ALG13 Unspecified ALG13 +OMIM:300779 skos:exactMatch UMLS:C2749049 Unspecified corneal dystrophy, endothelial, X-linked +OMIM:118600 skos:exactMatch ORPHA:1416 Unspecified chondrocalcinosis 2 +OMIM:118600 skos:exactMatch UMLS:C0856830 Unspecified chondrocalcinosis 2 +OMIM:606939 skos:exactMatch HGNC_symbol:ATP6V1B2 Unspecified ATP6V1B2 +OMIM:606939 skos:exactMatch HGNC:854 Unspecified ATP6V1B2 +OMIM:606939 skos:exactMatch UMLS:C1412674 Unspecified ATP6V1B2 +OMIM:300778 skos:exactMatch UMLS:C2749050 Unspecified corneal dystrophy, lisch epithelial +OMIM:300778 skos:exactMatch ORPHA:98955 Unspecified corneal dystrophy, lisch epithelial +OMIM:618920 skos:exactMatch ORPHA:293910 Unspecified arrhythmogenic right ventricular dysplasia, familial, 14 +OMIM:618920 skos:exactMatch UMLS:C5394505 Unspecified arrhythmogenic right ventricular dysplasia, familial, 14 +OMIM:618911 skos:exactMatch HGNC_symbol:C16orf92 Unspecified C16ORF92 +OMIM:618911 skos:exactMatch HGNC:26346 Unspecified C16ORF92 +OMIM:618911 skos:exactMatch UMLS:C2681297 Unspecified C16ORF92 +OMIM:618910 skos:exactMatch UMLS:C5394462 Unspecified developmental and epileptic encephalopathy 86 +OMIM:618910 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 86 +OMIM:618913 skos:exactMatch ORPHA:3337 Unspecified fanconi renotubular syndrome 5 +OMIM:618913 skos:exactMatch UMLS:C5394473 Unspecified fanconi renotubular syndrome 5 +OMIM:312750 skos:exactMatch UMLS:C0035372 Unspecified rett syndrome +OMIM:312750 skos:exactMatch ORPHA:3095 Unspecified rett syndrome +OMIM:312750 skos:exactMatch ORPHA:778 Unspecified rett syndrome +OMIM:618912 skos:exactMatch UMLS:C5394466 Unspecified sorbitol dehydrogenase deficiency with peripheral neuropathy +OMIM:275360 skos:exactMatch HGNC_symbol:TREH Unspecified TREH +OMIM:275360 skos:exactMatch HGNC:12266 Unspecified TREH +OMIM:275360 skos:exactMatch UMLS:C1421114 Unspecified TREH +OMIM:618915 skos:exactMatch ORPHA:90635 Unspecified deafness, autosomal dominant 77 +OMIM:618915 skos:exactMatch UMLS:C5394499 Unspecified deafness, autosomal dominant 77 +OMIM:618914 skos:exactMatch ORPHA:528084 Unspecified neurodevelopmental, jaw, eye, and digital syndrome +OMIM:618914 skos:exactMatch UMLS:C5394477 Unspecified neurodevelopmental, jaw, eye, and digital syndrome +OMIM:618917 skos:exactMatch UMLS:C5394502 Unspecified neurodevelopmental disorder with language impairment and behavioral abnormalities +OMIM:618916 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 87 +OMIM:618916 skos:exactMatch UMLS:C5394501 Unspecified developmental and epileptic encephalopathy 87 +OMIM:618919 skos:exactMatch UMLS:C1537491 Unspecified KLHL42 +OMIM:618919 skos:exactMatch HGNC_symbol:KLHL42 Unspecified KLHL42 +OMIM:618919 skos:exactMatch HGNC:29252 Unspecified KLHL42 +OMIM:618918 skos:exactMatch UMLS:C5394503 Unspecified periventricular nodular heterotopia 9 +OMIM:618918 skos:exactMatch ORPHA:98892 Unspecified periventricular nodular heterotopia 9 +OMIM:606940 skos:exactMatch HGNC_symbol:ZFHX4 Unspecified ZFHX4 +OMIM:606940 skos:exactMatch HGNC:30939 Unspecified ZFHX4 +OMIM:606940 skos:exactMatch UMLS:C1538171 Unspecified ZFHX4 +OMIM:606941 skos:exactMatch UMLS:C2931006 Unspecified ALG9 +OMIM:606941 skos:exactMatch UMLS:C1849762 Unspecified ALG9 +OMIM:606941 skos:exactMatch HGNC:15672 Unspecified ALG9 +OMIM:606941 skos:exactMatch HGNC_symbol:ALG9 Unspecified ALG9 +OMIM:606941 skos:exactMatch UMLS:C1538263 Unspecified ALG9 +OMIM:179590 skos:exactMatch UMLS:C1419115 Unspecified PTPRF +OMIM:179590 skos:exactMatch HGNC_symbol:PTPRF Unspecified PTPRF +OMIM:179590 skos:exactMatch HGNC:9670 Unspecified PTPRF +OMIM:606922 skos:exactMatch UMLS:C1538558 Unspecified GPR80 +OMIM:606922 skos:exactMatch HGNC:4531 Unspecified GPR80 +OMIM:606922 skos:exactMatch HGNC_symbol:OXGR1 Unspecified GPR80 +OMIM:300780 skos:exactMatch UMLS:C2681378 Unspecified CT47A1 +OMIM:300780 skos:exactMatch HGNC_symbol:CT47A1 Unspecified CT47A1 +OMIM:300780 skos:exactMatch HGNC:33282 Unspecified CT47A1 +OMIM:606923 skos:exactMatch HGNC:4532 Unspecified HCAR1 +OMIM:606923 skos:exactMatch HGNC_symbol:HCAR1 Unspecified HCAR1 +OMIM:606923 skos:exactMatch UMLS:C1415263 Unspecified HCAR1 +OMIM:300782 skos:exactMatch UMLS:C2681380 Unspecified CT47A3 +OMIM:300782 skos:exactMatch HGNC_symbol:CT47A3 Unspecified CT47A3 +OMIM:300782 skos:exactMatch HGNC:33284 Unspecified CT47A3 +OMIM:606920 skos:exactMatch HGNC:14076 Unspecified CERS2 +OMIM:606920 skos:exactMatch HGNC_symbol:CERS2 Unspecified CERS2 +OMIM:606920 skos:exactMatch UMLS:C1422392 Unspecified CERS2 +OMIM:606921 skos:exactMatch HGNC:4528 Unspecified GPR78 +OMIM:606921 skos:exactMatch UMLS:C1415259 Unspecified GPR78 +OMIM:606921 skos:exactMatch HGNC_symbol:GPR78 Unspecified GPR78 +OMIM:300781 skos:exactMatch UMLS:C2681379 Unspecified CT47A2 +OMIM:300781 skos:exactMatch HGNC:33283 Unspecified CT47A2 +OMIM:300781 skos:exactMatch HGNC_symbol:CT47A2 Unspecified CT47A2 +OMIM:606926 skos:exactMatch UMLS:C1421929 Unspecified LPAR5 +OMIM:606926 skos:exactMatch HGNC:13307 Unspecified LPAR5 +OMIM:606926 skos:exactMatch HGNC_symbol:LPAR5 Unspecified LPAR5 +OMIM:300784 skos:exactMatch UMLS:C2681382 Unspecified CT47A5 +OMIM:300784 skos:exactMatch HGNC_symbol:CT47A5 Unspecified CT47A5 +OMIM:300784 skos:exactMatch HGNC:33286 Unspecified CT47A5 +OMIM:606927 skos:exactMatch UMLS:C1539915 Unspecified TAAR8 +OMIM:606927 skos:exactMatch HGNC_symbol:TAAR8 Unspecified TAAR8 +OMIM:606927 skos:exactMatch HGNC:14964 Unspecified TAAR8 +OMIM:300783 skos:exactMatch UMLS:C2681381 Unspecified CT47A4 +OMIM:300783 skos:exactMatch HGNC:33285 Unspecified CT47A4 +OMIM:300783 skos:exactMatch HGNC_symbol:CT47A4 Unspecified CT47A4 +OMIM:300786 skos:exactMatch HGNC_symbol:CT47A7 Unspecified CT47A7 +OMIM:300786 skos:exactMatch HGNC:33288 Unspecified CT47A7 +OMIM:300786 skos:exactMatch UMLS:C2681384 Unspecified CT47A7 +OMIM:606925 skos:exactMatch UMLS:C1423577 Unspecified QRFPR +OMIM:606925 skos:exactMatch HGNC_symbol:QRFPR Unspecified QRFPR +OMIM:606925 skos:exactMatch HGNC:15565 Unspecified QRFPR +OMIM:300785 skos:exactMatch HGNC_symbol:CT47A6 Unspecified CT47A6 +OMIM:300785 skos:exactMatch UMLS:C2681383 Unspecified CT47A6 +OMIM:300785 skos:exactMatch HGNC:33287 Unspecified CT47A6 +OMIM:300788 skos:exactMatch HGNC:33290 Unspecified CT47A9 +OMIM:300788 skos:exactMatch HGNC_symbol:CT47A9 Unspecified CT47A9 +OMIM:300788 skos:exactMatch UMLS:C2681386 Unspecified CT47A9 +OMIM:300787 skos:exactMatch HGNC:33289 Unspecified CT47A8 +OMIM:300787 skos:exactMatch HGNC_symbol:CT47A8 Unspecified CT47A8 +OMIM:300787 skos:exactMatch UMLS:C2681385 Unspecified CT47A8 +OMIM:606928 skos:exactMatch UMLS:C1847161 Unspecified bone mineral density quantitative trait locus 3 +OMIM:300789 skos:exactMatch HGNC:33291 Unspecified CT47A10 +OMIM:300789 skos:exactMatch UMLS:C2681387 Unspecified CT47A10 +OMIM:300789 skos:exactMatch HGNC_symbol:CT47A10 Unspecified CT47A10 +OMIM:606929 skos:exactMatch UMLS:C1425989 Unspecified THOC3 +OMIM:606929 skos:exactMatch HGNC:19072 Unspecified THOC3 +OMIM:606929 skos:exactMatch HGNC_symbol:THOC3 Unspecified THOC3 +OMIM:618900 skos:exactMatch HGNC:23486 Unspecified ZCWPW1 +OMIM:618900 skos:exactMatch UMLS:C1428099 Unspecified ZCWPW1 +OMIM:618900 skos:exactMatch HGNC_symbol:ZCWPW1 Unspecified ZCWPW1 +OMIM:618902 skos:exactMatch HGNC:25755 Unspecified METTL2A +OMIM:618902 skos:exactMatch UMLS:C1825974 Unspecified METTL2A +OMIM:618902 skos:exactMatch HGNC_symbol:METTL2A Unspecified METTL2A +OMIM:275350 skos:exactMatch UMLS:C0342701 Unspecified transcobalamin 2 deficiency +OMIM:312760 skos:exactMatch UMLS:C1419736 Unspecified RPS4X +OMIM:312760 skos:exactMatch HGNC:10424 Unspecified RPS4X +OMIM:312760 skos:exactMatch HGNC_symbol:RPS4X Unspecified RPS4X +OMIM:618901 skos:exactMatch UMLS:C5394441 Unspecified 46,xx sex reversal 5 +OMIM:618904 skos:exactMatch UMLS:C1539217 Unspecified DALRD3 +OMIM:618904 skos:exactMatch UMLS:C5394462 Unspecified DALRD3 +OMIM:618904 skos:exactMatch HGNC_symbol:DALRD3 Unspecified DALRD3 +OMIM:618904 skos:exactMatch HGNC:25536 Unspecified DALRD3 +OMIM:618903 skos:exactMatch UMLS:C1825975 Unspecified METTL6 +OMIM:618903 skos:exactMatch HGNC:28343 Unspecified METTL6 +OMIM:618903 skos:exactMatch HGNC_symbol:METTL6 Unspecified METTL6 +OMIM:618906 skos:exactMatch ORPHA:528084 Unspecified intellectual developmental disorder with autistic features and language delay, with or without seizures +OMIM:618906 skos:exactMatch UMLS:C5394447 Unspecified intellectual developmental disorder with autistic features and language delay, with or without seizures +OMIM:618905 skos:exactMatch UMLS:C5394446 Unspecified silver-russell syndrome 2 +OMIM:618905 skos:exactMatch UMLS:C5400127 Unspecified silver-russell syndrome 2 +OMIM:618908 skos:exactMatch UMLS:C5394456 Unspecified silver-russell syndrome 5 +OMIM:618908 skos:exactMatch ORPHA:397590 Unspecified silver-russell syndrome 5 +OMIM:275355 skos:exactMatch ORPHA:494550 Unspecified squamous cell carcinoma, head and neck +OMIM:275355 skos:exactMatch ORPHA:494547 Unspecified squamous cell carcinoma, head and neck +OMIM:275355 skos:exactMatch ORPHA:500481 Unspecified squamous cell carcinoma, head and neck +OMIM:275355 skos:exactMatch ORPHA:500478 Unspecified squamous cell carcinoma, head and neck +OMIM:275355 skos:exactMatch ORPHA:500464 Unspecified squamous cell carcinoma, head and neck +OMIM:275355 skos:exactMatch UMLS:C1168401 Unspecified squamous cell carcinoma, head and neck +OMIM:275355 skos:exactMatch ORPHA:502363 Unspecified squamous cell carcinoma, head and neck +OMIM:275355 skos:exactMatch ORPHA:502366 Unspecified squamous cell carcinoma, head and neck +OMIM:618907 skos:exactMatch UMLS:C5394450 Unspecified silver-russell syndrome 4 +OMIM:618907 skos:exactMatch ORPHA:397590 Unspecified silver-russell syndrome 4 +OMIM:618909 skos:exactMatch UMLS:C1423578 Unspecified ILKAP +OMIM:618909 skos:exactMatch HGNC:15566 Unspecified ILKAP +OMIM:618909 skos:exactMatch HGNC_symbol:ILKAP Unspecified ILKAP +OMIM:606930 skos:exactMatch HGNC_symbol:THOC1 Unspecified THOC1 +OMIM:606930 skos:exactMatch UMLS:C1425987 Unspecified THOC1 +OMIM:606930 skos:exactMatch HGNC:19070 Unspecified THOC1 +OMIM:309120 skos:exactMatch UMLS:C1839841 Unspecified spermatogenic failure, x-linked, 2 +OMIM:604336 skos:exactMatch HGNC_symbol:TPTE Unspecified TPTE +OMIM:604336 skos:exactMatch HGNC:12023 Unspecified TPTE +OMIM:604336 skos:exactMatch UMLS:C1420883 Unspecified TPTE +OMIM:606999 skos:exactMatch UMLS:C1414962 Unspecified GALT +OMIM:606999 skos:exactMatch UMLS:C4017050 Unspecified GALT +OMIM:606999 skos:exactMatch UMLS:C4017051 Unspecified GALT +OMIM:606999 skos:exactMatch UMLS:C4017052 Unspecified GALT +OMIM:606999 skos:exactMatch HGNC_symbol:GALT Unspecified GALT +OMIM:606999 skos:exactMatch HGNC:4135 Unspecified GALT +OMIM:606999 skos:exactMatch UMLS:C3278146 Unspecified GALT +OMIM:606999 skos:exactMatch UMLS:C0268151 Unspecified GALT +OMIM:604335 skos:exactMatch UMLS:C0034931 Unspecified reflex sympathetic dystrophy +OMIM:606997 skos:exactMatch UMLS:C1846978 Unspecified C1D +OMIM:606997 skos:exactMatch HGNC_symbol:C1D Unspecified C1D +OMIM:606997 skos:exactMatch HGNC:29911 Unspecified C1D +OMIM:606998 skos:exactMatch HGNC_symbol:FLOT1 Unspecified FLOT1 +OMIM:606998 skos:exactMatch HGNC:3757 Unspecified FLOT1 +OMIM:606998 skos:exactMatch UMLS:C1414638 Unspecified FLOT1 +OMIM:604337 skos:exactMatch UMLS:C1413448 Unspecified CLCA3P +OMIM:604337 skos:exactMatch HGNC:2017 Unspecified CLCA3P +OMIM:604337 skos:exactMatch HGNC_symbol:CLCA3P Unspecified CLCA3P +OMIM:618980 skos:exactMatch UMLS:C5436678 Unspecified CEP112 +OMIM:618980 skos:exactMatch HGNC_symbol:CEP112 Unspecified CEP112 +OMIM:618980 skos:exactMatch UMLS:C1824570 Unspecified CEP112 +OMIM:618980 skos:exactMatch HGNC:28514 Unspecified CEP112 +OMIM:618982 skos:exactMatch UMLS:C5436540 Unspecified immunodeficiency 72 with autoinflammation +OMIM:618981 skos:exactMatch HGNC:24641 Unspecified VPS35L +OMIM:618981 skos:exactMatch UMLS:C2240311 Unspecified VPS35L +OMIM:618981 skos:exactMatch UMLS:C5436883 Unspecified VPS35L +OMIM:618981 skos:exactMatch HGNC_symbol:VPS35L Unspecified VPS35L +OMIM:616320 skos:exactMatch UMLS:C1539384 Unspecified FAHD1 +OMIM:616320 skos:exactMatch HGNC_symbol:FAHD1 Unspecified FAHD1 +OMIM:616320 skos:exactMatch HGNC:14169 Unspecified FAHD1 +OMIM:618984 skos:exactMatch UMLS:C1539898 Unspecified SUN3 +OMIM:618984 skos:exactMatch HGNC_symbol:SUN3 Unspecified SUN3 +OMIM:618984 skos:exactMatch HGNC:22429 Unspecified SUN3 +OMIM:616321 skos:exactMatch UMLS:C4225372 Unspecified myasthenic syndrome, congenital, 3a, slow-channel +OMIM:618983 skos:exactMatch UMLS:C0023595 Unspecified blood group, lewis system +OMIM:616322 skos:exactMatch ORPHA:98913 Unspecified myasthenic syndrome, congenital, 3b, fast-channel +OMIM:616322 skos:exactMatch UMLS:C4225371 Unspecified myasthenic syndrome, congenital, 3b, fast-channel +OMIM:616322 skos:exactMatch ORPHA:590 Unspecified myasthenic syndrome, congenital, 3b, fast-channel +OMIM:618986 skos:exactMatch UMLS:C5436549 Unspecified immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia +OMIM:616323 skos:exactMatch UMLS:C4225370 Unspecified myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency +OMIM:618985 skos:exactMatch UMLS:C5436546 Unspecified growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant +OMIM:616324 skos:exactMatch UMLS:C4225369 Unspecified myasthenic syndrome, congenital, 4b, fast-channel +OMIM:616314 skos:exactMatch UMLS:C4225373 Unspecified myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency +OMIM:618977 skos:exactMatch ORPHA:98673 Unspecified optic atrophy 12 +OMIM:618977 skos:exactMatch UMLS:C5436534 Unspecified optic atrophy 12 +OMIM:618976 skos:exactMatch HGNC_symbol:MYOSLID Unspecified MYOSLID +OMIM:618976 skos:exactMatch UMLS:C4320587 Unspecified MYOSLID +OMIM:618976 skos:exactMatch HGNC:51821 Unspecified MYOSLID +OMIM:616315 skos:exactMatch HGNC:27849 Unspecified PAXX +OMIM:616315 skos:exactMatch HGNC_symbol:PAXX Unspecified PAXX +OMIM:616315 skos:exactMatch UMLS:C1824297 Unspecified PAXX +OMIM:616316 skos:exactMatch HGNC:28999 Unspecified FAM168A +OMIM:616316 skos:exactMatch UMLS:C2681496 Unspecified FAM168A +OMIM:616316 skos:exactMatch HGNC_symbol:FAM168A Unspecified FAM168A +OMIM:618979 skos:exactMatch UMLS:C3888126 Unspecified high density lipoprotein cholesterol level quantitative trait locus 7 +OMIM:618978 skos:exactMatch HGNC_symbol:TMEM163 Unspecified TMEM163 +OMIM:618978 skos:exactMatch HGNC:25380 Unspecified TMEM163 +OMIM:618978 skos:exactMatch UMLS:C1823428 Unspecified TMEM163 +OMIM:616317 skos:exactMatch HGNC:20883 Unspecified GDPD1 +OMIM:616317 skos:exactMatch HGNC_symbol:GDPD1 Unspecified GDPD1 +OMIM:616317 skos:exactMatch UMLS:C1427188 Unspecified GDPD1 +OMIM:616318 skos:exactMatch HGNC:28638 Unspecified GDPD3 +OMIM:616318 skos:exactMatch UMLS:C1539557 Unspecified GDPD3 +OMIM:616318 skos:exactMatch HGNC_symbol:GDPD3 Unspecified GDPD3 +OMIM:616319 skos:exactMatch HGNC:17765 Unspecified RNF138 +OMIM:616319 skos:exactMatch UMLS:C1425069 Unspecified RNF138 +OMIM:616319 skos:exactMatch HGNC_symbol:RNF138 Unspecified RNF138 +OMIM:604345 skos:exactMatch HGNC:6822 Unspecified MAN1A2 +OMIM:604345 skos:exactMatch HGNC_symbol:MAN1A2 Unspecified MAN1A2 +OMIM:604345 skos:exactMatch UMLS:C1416993 Unspecified MAN1A2 +OMIM:604344 skos:exactMatch HGNC:6821 Unspecified MAN1A1 +OMIM:604344 skos:exactMatch HGNC_symbol:MAN1A1 Unspecified MAN1A1 +OMIM:604344 skos:exactMatch UMLS:C1416992 Unspecified MAN1A1 +OMIM:604325 skos:exactMatch HGNC_symbol:PPP2R2B Unspecified PPP2R2B +OMIM:604325 skos:exactMatch UMLS:C1418839 Unspecified PPP2R2B +OMIM:604325 skos:exactMatch HGNC:9305 Unspecified PPP2R2B +OMIM:606988 skos:exactMatch HGNC_symbol:CHP1 Unspecified CHP1 +OMIM:606988 skos:exactMatch UMLS:C1846989 Unspecified CHP1 +OMIM:606988 skos:exactMatch HGNC:17433 Unspecified CHP1 +OMIM:606989 skos:exactMatch HGNC:7218 Unspecified MPO +OMIM:606989 skos:exactMatch HGNC_symbol:MPO Unspecified MPO +OMIM:606989 skos:exactMatch UMLS:C1856170 Unspecified MPO +OMIM:606989 skos:exactMatch UMLS:C0398595 Unspecified MPO +OMIM:606989 skos:exactMatch UMLS:C1417245 Unspecified MPO +OMIM:606989 skos:exactMatch UMLS:C1969821 Unspecified MPO +OMIM:604324 skos:exactMatch UMLS:C1858506 Unspecified acne, adult +OMIM:604327 skos:exactMatch HGNC:930 Unspecified B4GALT7 +OMIM:604327 skos:exactMatch HGNC_symbol:B4GALT7 Unspecified B4GALT7 +OMIM:604327 skos:exactMatch UMLS:C1412725 Unspecified B4GALT7 +OMIM:606987 skos:exactMatch UMLS:C1333701 Unspecified GRK7 +OMIM:606987 skos:exactMatch HGNC:17031 Unspecified GRK7 +OMIM:606987 skos:exactMatch HGNC_symbol:GRK7 Unspecified GRK7 +OMIM:604326 skos:exactMatch UMLS:C1858501 Unspecified spinocerebellar ataxia 12 +OMIM:604329 skos:exactMatch UMLS:C1858497 Unspecified hypertension, essential, susceptibility to, 2 +OMIM:604328 skos:exactMatch HGNC:11327 Unspecified SSRP1 +OMIM:604328 skos:exactMatch HGNC_symbol:SSRP1 Unspecified SSRP1 +OMIM:604328 skos:exactMatch UMLS:C1420432 Unspecified SSRP1 +OMIM:618971 skos:exactMatch UMLS:C5436509 Unspecified tolchin-le caignec syndrome +OMIM:618970 skos:exactMatch UMLS:C5436505 Unspecified cone-rod synaptic disorder syndrome, congenital nonprogressive +OMIM:616310 skos:exactMatch HGNC_symbol:ARHGAP11B Unspecified ARHGAP11B +OMIM:616310 skos:exactMatch UMLS:C1538923 Unspecified ARHGAP11B +OMIM:616310 skos:exactMatch HGNC:15782 Unspecified ARHGAP11B +OMIM:618973 skos:exactMatch UMLS:C5436520 Unspecified neurodegeneration, infantile-onset, biotin-responsive +OMIM:618972 skos:exactMatch UMLS:C5436514 Unspecified mitochondrial DNA depletion syndrome 19 +OMIM:616311 skos:exactMatch UMLS:C4225375 Unspecified intellectual developmental disorder, autosomal dominant 33 +OMIM:618975 skos:exactMatch UMLS:C5436530 Unspecified myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies +OMIM:616312 skos:exactMatch HGNC:21244 Unspecified LEMD2 +OMIM:616312 skos:exactMatch UMLS:C1427448 Unspecified LEMD2 +OMIM:616312 skos:exactMatch HGNC_symbol:LEMD2 Unspecified LEMD2 +OMIM:616312 skos:exactMatch UMLS:C0220721 Unspecified LEMD2 +OMIM:618974 skos:exactMatch ORPHA:528084 Unspecified li-ghorbani-weisz-hubshman syndrome +OMIM:618974 skos:exactMatch UMLS:C5436525 Unspecified li-ghorbani-weisz-hubshman syndrome +OMIM:616313 skos:exactMatch UMLS:C4225374 Unspecified myasthenic syndrome, congenital, 2a, slow-channel +OMIM:616303 skos:exactMatch HGNC_symbol:WDR91 Unspecified WDR91 +OMIM:616303 skos:exactMatch HGNC:24997 Unspecified WDR91 +OMIM:616303 skos:exactMatch UMLS:C2240178 Unspecified WDR91 +OMIM:618966 skos:exactMatch HGNC:26020 Unspecified TMEM161A +OMIM:618966 skos:exactMatch HGNC_symbol:TMEM161A Unspecified TMEM161A +OMIM:618966 skos:exactMatch UMLS:C1823425 Unspecified TMEM161A +OMIM:616304 skos:exactMatch UMLS:C4225377 Unspecified myasthenic syndrome, congenital, 17 +OMIM:618965 skos:exactMatch HGNC_symbol:TM9SF1 Unspecified TM9SF1 +OMIM:618965 skos:exactMatch HGNC:11864 Unspecified TM9SF1 +OMIM:618965 skos:exactMatch UMLS:C1420772 Unspecified TM9SF1 +OMIM:277990 skos:exactMatch UMLS:C1848439 Unspecified wolff mental retardation syndrome +OMIM:616305 skos:exactMatch HGNC:25491 Unspecified FRMD4A +OMIM:616305 skos:exactMatch UMLS:C1539533 Unspecified FRMD4A +OMIM:616305 skos:exactMatch HGNC_symbol:FRMD4A Unspecified FRMD4A +OMIM:618968 skos:exactMatch UMLS:C1823765 Unspecified C1ORF146 +OMIM:618968 skos:exactMatch HGNC_symbol:C1orf146 Unspecified C1ORF146 +OMIM:618968 skos:exactMatch HGNC:24032 Unspecified C1ORF146 +OMIM:616306 skos:exactMatch HGNC_symbol:FSBP Unspecified FSBP +OMIM:616306 skos:exactMatch HGNC:43653 Unspecified FSBP +OMIM:616306 skos:exactMatch UMLS:C3470332 Unspecified FSBP +OMIM:618967 skos:exactMatch HGNC:72 Unspecified ABCF3 +OMIM:618967 skos:exactMatch UMLS:C1412095 Unspecified ABCF3 +OMIM:618967 skos:exactMatch HGNC_symbol:ABCF3 Unspecified ABCF3 +OMIM:616307 skos:exactMatch UMLS:C4225376 Unspecified senior-loken syndrome 8 +OMIM:616308 skos:exactMatch HGNC:49033 Unspecified BGLT3 +OMIM:616308 skos:exactMatch UMLS:C3890517 Unspecified BGLT3 +OMIM:616308 skos:exactMatch HGNC_symbol:BGLT3 Unspecified BGLT3 +OMIM:618969 skos:exactMatch UMLS:C5436501 Unspecified immunodeficiency 70 +OMIM:616309 skos:exactMatch HGNC:28214 Unspecified FRMD5 +OMIM:616309 skos:exactMatch HGNC_symbol:FRMD5 Unspecified FRMD5 +OMIM:616309 skos:exactMatch UMLS:C1825313 Unspecified FRMD5 +OMIM:606991 skos:exactMatch HGNC:18360 Unspecified IHPK1 +OMIM:606991 skos:exactMatch HGNC_symbol:IP6K1 Unspecified IHPK1 +OMIM:606991 skos:exactMatch UMLS:C1425471 Unspecified IHPK1 +OMIM:606992 skos:exactMatch UMLS:C1424894 Unspecified IHPK2 +OMIM:606992 skos:exactMatch HGNC:17313 Unspecified IHPK2 +OMIM:606992 skos:exactMatch HGNC_symbol:IP6K2 Unspecified IHPK2 +OMIM:604330 skos:exactMatch UMLS:C1333705 Unspecified GRAP +OMIM:604330 skos:exactMatch HGNC:4562 Unspecified GRAP +OMIM:604330 skos:exactMatch HGNC_symbol:GRAP Unspecified GRAP +OMIM:606990 skos:exactMatch HGNC:2232 Unspecified COPB2 +OMIM:606990 skos:exactMatch UMLS:C1413607 Unspecified COPB2 +OMIM:606990 skos:exactMatch HGNC_symbol:COPB2 Unspecified COPB2 +OMIM:604332 skos:exactMatch UMLS:C2676690 Unspecified CHIC2 +OMIM:604332 skos:exactMatch HGNC_symbol:CHIC2 Unspecified CHIC2 +OMIM:604332 skos:exactMatch UMLS:C1413390 Unspecified CHIC2 +OMIM:604332 skos:exactMatch HGNC:1935 Unspecified CHIC2 +OMIM:606995 skos:exactMatch UMLS:C1846980 Unspecified senior-loken syndrome 3 +OMIM:604331 skos:exactMatch HGNC:14879 Unspecified INTS6 +OMIM:604331 skos:exactMatch UMLS:C1333210 Unspecified INTS6 +OMIM:604331 skos:exactMatch HGNC_symbol:INTS6 Unspecified INTS6 +OMIM:606996 skos:exactMatch UMLS:C1846979 Unspecified senior-loken syndrome 4 +OMIM:604334 skos:exactMatch HGNC_symbol:USP6 Unspecified USP6 +OMIM:604334 skos:exactMatch HGNC:12629 Unspecified USP6 +OMIM:604334 skos:exactMatch UMLS:C1421407 Unspecified USP6 +OMIM:106600 skos:exactMatch UMLS:C3489529 Unspecified tooth agenesis, selective, 1 +OMIM:106600 skos:exactMatch UMLS:C1970117 Unspecified tooth agenesis, selective, 1 +OMIM:106600 skos:exactMatch UMLS:C1970118 Unspecified tooth agenesis, selective, 1 +OMIM:606993 skos:exactMatch UMLS:C1424861 Unspecified IHPK3 +OMIM:606993 skos:exactMatch HGNC:17269 Unspecified IHPK3 +OMIM:606993 skos:exactMatch HGNC_symbol:IP6K3 Unspecified IHPK3 +OMIM:604333 skos:exactMatch UMLS:C1538079 Unspecified CIAO1 +OMIM:604333 skos:exactMatch HGNC_symbol:CIAO1 Unspecified CIAO1 +OMIM:604333 skos:exactMatch HGNC:14280 Unspecified CIAO1 +OMIM:606994 skos:exactMatch HGNC:19297 Unspecified TNK2 +OMIM:606994 skos:exactMatch UMLS:C1540033 Unspecified TNK2 +OMIM:606994 skos:exactMatch HGNC_symbol:TNK2 Unspecified TNK2 +OMIM:606977 skos:exactMatch UMLS:C1425653 Unspecified COG6 +OMIM:606977 skos:exactMatch HGNC_symbol:COG6 Unspecified COG6 +OMIM:606977 skos:exactMatch HGNC:18621 Unspecified COG6 +OMIM:604314 skos:exactMatch UMLS:C1858538 Unspecified blepharophimosis with facial and genital anomalies and mental retardation +OMIM:606978 skos:exactMatch UMLS:C1425654 Unspecified COG7 +OMIM:606978 skos:exactMatch HGNC_symbol:COG7 Unspecified COG7 +OMIM:606978 skos:exactMatch HGNC:18622 Unspecified COG7 +OMIM:604313 skos:exactMatch UMLS:C0268155 Unspecified GALK1 +OMIM:604313 skos:exactMatch UMLS:C1414948 Unspecified GALK1 +OMIM:604313 skos:exactMatch HGNC:4118 Unspecified GALK1 +OMIM:604313 skos:exactMatch HGNC_symbol:GALK1 Unspecified GALK1 +OMIM:606975 skos:exactMatch UMLS:C1425651 Unspecified COG3 +OMIM:606975 skos:exactMatch HGNC_symbol:COG3 Unspecified COG3 +OMIM:606975 skos:exactMatch HGNC:18619 Unspecified COG3 +OMIM:604316 skos:exactMatch UMLS:C1858536 Unspecified psoriasis 5, susceptibility to +OMIM:606976 skos:exactMatch UMLS:C1425652 Unspecified COG4 +OMIM:606976 skos:exactMatch HGNC_symbol:COG4 Unspecified COG4 +OMIM:606976 skos:exactMatch HGNC:18620 Unspecified COG4 +OMIM:604315 skos:exactMatch UMLS:C1858537 Unspecified anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome +OMIM:604318 skos:exactMatch HGNC_symbol:GTF2IRD1 Unspecified GTF2IRD1 +OMIM:604318 skos:exactMatch UMLS:C1415349 Unspecified GTF2IRD1 +OMIM:604318 skos:exactMatch HGNC:4661 Unspecified GTF2IRD1 +OMIM:604317 skos:exactMatch UMLS:C1858535 Unspecified microcephaly 2, primary, autosomal recessive, with or without cortical malformations +OMIM:606979 skos:exactMatch UMLS:C1970021 Unspecified COG8 +OMIM:606979 skos:exactMatch UMLS:C1425655 Unspecified COG8 +OMIM:606979 skos:exactMatch HGNC_symbol:COG8 Unspecified COG8 +OMIM:606979 skos:exactMatch HGNC:18623 Unspecified COG8 +OMIM:604319 skos:exactMatch HGNC_symbol:TINF2 Unspecified TINF2 +OMIM:604319 skos:exactMatch UMLS:C1336631 Unspecified TINF2 +OMIM:604319 skos:exactMatch HGNC:11824 Unspecified TINF2 +OMIM:618960 skos:exactMatch UMLS:C5394554 Unspecified mitchell syndrome +OMIM:618962 skos:exactMatch UMLS:C1538556 Unspecified OVCH2 +OMIM:618962 skos:exactMatch HGNC_symbol:OVCH2 Unspecified OVCH2 +OMIM:618962 skos:exactMatch HGNC:29970 Unspecified OVCH2 +OMIM:616300 skos:exactMatch UMLS:C4225378 Unspecified short-rib thoracic dysplasia 13 with or without polydactyly +OMIM:618961 skos:exactMatch UMLS:C5394555 Unspecified spondylometaphyseal dysplasia with corneal dystrophy +OMIM:618961 skos:exactMatch ORPHA:589435 Unspecified spondylometaphyseal dysplasia with corneal dystrophy +OMIM:616301 skos:exactMatch HGNC:16848 Unspecified CD300LD +OMIM:616301 skos:exactMatch HGNC_symbol:CD300LD Unspecified CD300LD +OMIM:616301 skos:exactMatch UMLS:C2240359 Unspecified CD300LD +OMIM:618964 skos:exactMatch HGNC:25850 Unspecified RMND5A +OMIM:618964 skos:exactMatch UMLS:C1826834 Unspecified RMND5A +OMIM:618964 skos:exactMatch HGNC_symbol:RMND5A Unspecified RMND5A +OMIM:616302 skos:exactMatch HGNC_symbol:FOXK1 Unspecified FOXK1 +OMIM:616302 skos:exactMatch HGNC:23480 Unspecified FOXK1 +OMIM:616302 skos:exactMatch UMLS:C1428094 Unspecified FOXK1 +OMIM:618963 skos:exactMatch UMLS:C5436498 Unspecified immunodeficiency 69 +OMIM:618955 skos:exactMatch UMLS:C5394552 Unspecified retinitis pigmentosa 89 +OMIM:618955 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 89 +OMIM:618954 skos:exactMatch HGNC_symbol:CYP4Z2P Unspecified cytochrome p450, family 4, subfamily z, member 2, pseudogene +OMIM:618954 skos:exactMatch UMLS:C2681396 Unspecified cytochrome p450, family 4, subfamily z, member 2, pseudogene +OMIM:618954 skos:exactMatch HGNC:24426 Unspecified cytochrome p450, family 4, subfamily z, member 2, pseudogene +OMIM:618957 skos:exactMatch HGNC_symbol:ANKRD27 Unspecified ANKRD27 +OMIM:618957 skos:exactMatch HGNC:25310 Unspecified ANKRD27 +OMIM:618957 skos:exactMatch UMLS:C1428472 Unspecified ANKRD27 +OMIM:618956 skos:exactMatch UMLS:C1419384 Unspecified RHEBL1 +OMIM:618956 skos:exactMatch HGNC_symbol:RHEBL1 Unspecified RHEBL1 +OMIM:618956 skos:exactMatch HGNC:21166 Unspecified RHEBL1 +OMIM:618959 skos:exactMatch UMLS:C5394553 Unspecified developmental and epileptic encephalopathy 88 +OMIM:618959 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 88 +OMIM:618958 skos:exactMatch UMLS:C5436476 Unspecified combined oxidative phosphorylation deficiency 47 +OMIM:606980 skos:exactMatch UMLS:C1424564 Unspecified COQ8A +OMIM:606980 skos:exactMatch UMLS:C2677589 Unspecified COQ8A +OMIM:606980 skos:exactMatch HGNC:16812 Unspecified COQ8A +OMIM:606980 skos:exactMatch HGNC_symbol:COQ8A Unspecified COQ8A +OMIM:606981 skos:exactMatch HGNC:4404 Unspecified GNG2 +OMIM:606981 skos:exactMatch HGNC_symbol:GNG2 Unspecified GNG2 +OMIM:606981 skos:exactMatch UMLS:C1415155 Unspecified GNG2 +OMIM:604321 skos:exactMatch UMLS:C1858516 Unspecified microcephaly 4, primary, autosomal recessive +OMIM:606984 skos:exactMatch UMLS:C1846990 Unspecified hyperreninemic hypoaldosteronism, familial, 2 +OMIM:604320 skos:exactMatch UMLS:C1858517 Unspecified spinal muscular atrophy, distal, autosomal recessive, 1 +OMIM:606985 skos:exactMatch UMLS:C1412870 Unspecified ELP4 +OMIM:606985 skos:exactMatch UMLS:C4284070 Unspecified ELP4 +OMIM:606985 skos:exactMatch HGNC:1171 Unspecified ELP4 +OMIM:606985 skos:exactMatch HGNC_symbol:ELP4 Unspecified ELP4 +OMIM:604323 skos:exactMatch HGNC:54 Unspecified ABCC3 +OMIM:604323 skos:exactMatch UMLS:C1412078 Unspecified ABCC3 +OMIM:604323 skos:exactMatch HGNC_symbol:ABCC3 Unspecified ABCC3 +OMIM:606982 skos:exactMatch HGNC_symbol:GGPS1 Unspecified GGPS1 +OMIM:606982 skos:exactMatch HGNC:4249 Unspecified GGPS1 +OMIM:606982 skos:exactMatch UMLS:C1415052 Unspecified GGPS1 +OMIM:604322 skos:exactMatch HGNC_symbol:SLC17A5 Unspecified SLC17A5 +OMIM:604322 skos:exactMatch UMLS:C1420113 Unspecified SLC17A5 +OMIM:604322 skos:exactMatch HGNC:10933 Unspecified SLC17A5 +OMIM:606983 skos:exactMatch UMLS:C1424651 Unspecified DGAT2 +OMIM:606983 skos:exactMatch HGNC_symbol:DGAT2 Unspecified DGAT2 +OMIM:606983 skos:exactMatch HGNC:16940 Unspecified DGAT2 +OMIM:606966 skos:exactMatch UMLS:C1847013 Unspecified nephronophthisis 4 +OMIM:604303 skos:exactMatch UMLS:C1412163 Unspecified ACTL7A +OMIM:604303 skos:exactMatch HGNC_symbol:ACTL7A Unspecified ACTL7A +OMIM:604303 skos:exactMatch HGNC:161 Unspecified ACTL7A +OMIM:606967 skos:exactMatch HGNC_symbol:LCAT Unspecified LCAT +OMIM:606967 skos:exactMatch UMLS:C1416804 Unspecified LCAT +OMIM:606967 skos:exactMatch HGNC:6522 Unspecified LCAT +OMIM:604302 skos:exactMatch UMLS:C1858558 Unspecified rheumatoid arthritis, systemic juvenile +OMIM:604302 skos:exactMatch ORPHA:85414 Unspecified rheumatoid arthritis, systemic juvenile +OMIM:606964 skos:exactMatch HGNC:17847 Unspecified STK38 +OMIM:606964 skos:exactMatch UMLS:C1425128 Unspecified STK38 +OMIM:606964 skos:exactMatch HGNC_symbol:STK38 Unspecified STK38 +OMIM:604305 skos:exactMatch UMLS:C1415572 Unspecified HLA-DQB1 +OMIM:604305 skos:exactMatch HGNC_symbol:HLA-DQB1 Unspecified HLA-DQB1 +OMIM:604305 skos:exactMatch HGNC:4944 Unspecified HLA-DQB1 +OMIM:606965 skos:exactMatch UMLS:C1366532 Unspecified FASTK +OMIM:606965 skos:exactMatch HGNC:24676 Unspecified FASTK +OMIM:606965 skos:exactMatch HGNC_symbol:FASTK Unspecified FASTK +OMIM:604304 skos:exactMatch UMLS:C1412164 Unspecified ACTL7B +OMIM:604304 skos:exactMatch HGNC:162 Unspecified ACTL7B +OMIM:604304 skos:exactMatch HGNC_symbol:ACTL7B Unspecified ACTL7B +OMIM:604307 skos:exactMatch UMLS:C1852438 Unspecified cataract 2, multiple types +OMIM:604307 skos:exactMatch UMLS:C4721890 Unspecified cataract 2, multiple types +OMIM:604306 skos:exactMatch UMLS:C1424721 Unspecified FAIM2 +OMIM:604306 skos:exactMatch HGNC_symbol:FAIM2 Unspecified FAIM2 +OMIM:604306 skos:exactMatch HGNC:17067 Unspecified FAIM2 +OMIM:604309 skos:exactMatch HGNC:15827 Unspecified SLC13A4 +OMIM:604309 skos:exactMatch UMLS:C1423758 Unspecified SLC13A4 +OMIM:604309 skos:exactMatch HGNC_symbol:SLC13A4 Unspecified SLC13A4 +OMIM:606968 skos:exactMatch UMLS:C1539329 Unspecified EEF2K +OMIM:606968 skos:exactMatch HGNC:24615 Unspecified EEF2K +OMIM:606968 skos:exactMatch HGNC_symbol:EEF2K Unspecified EEF2K +OMIM:606969 skos:exactMatch HGNC:15717 Unspecified GEMIN4 +OMIM:606969 skos:exactMatch HGNC_symbol:GEMIN4 Unspecified GEMIN4 +OMIM:606969 skos:exactMatch UMLS:C1423680 Unspecified GEMIN4 +OMIM:606969 skos:exactMatch UMLS:C4693567 Unspecified GEMIN4 +OMIM:604308 skos:exactMatch UMLS:C1858556 Unspecified mass syndrome +OMIM:618951 skos:exactMatch UMLS:C5436461 Unspecified combined oxidative phosphorylation deficiency 45 +OMIM:618950 skos:exactMatch UMLS:C5436458 Unspecified suleiman-el-hattab syndrome +OMIM:618953 skos:exactMatch HGNC:20583 Unspecified CYP4Z1 +OMIM:618953 skos:exactMatch HGNC_symbol:CYP4Z1 Unspecified CYP4Z1 +OMIM:618953 skos:exactMatch UMLS:C1539214 Unspecified CYP4Z1 +OMIM:618952 skos:exactMatch UMLS:C5436466 Unspecified combined oxidative phosphorylation deficiency 46 +OMIM:618944 skos:exactMatch UMLS:C5394550 Unspecified hyper-ige recurrent infection syndrome 5, autosomal recessive +OMIM:618943 skos:exactMatch HGNC:20159 Unspecified SNORD8 +OMIM:618943 skos:exactMatch HGNC_symbol:SNORD8 Unspecified SNORD8 +OMIM:618943 skos:exactMatch UMLS:C1822912 Unspecified SNORD8 +OMIM:618946 skos:exactMatch HGNC:21750 Unspecified LLCFC1 +OMIM:618946 skos:exactMatch UMLS:C1427740 Unspecified LLCFC1 +OMIM:618946 skos:exactMatch HGNC_symbol:LLCFC1 Unspecified LLCFC1 +OMIM:618945 skos:exactMatch HGNC:27113 Unspecified SPACA6 +OMIM:618945 skos:exactMatch UMLS:C2681867 Unspecified SPACA6 +OMIM:618945 skos:exactMatch HGNC_symbol:SPACA6 Unspecified SPACA6 +OMIM:618948 skos:exactMatch UMLS:C5394551 Unspecified heterotaxy, visceral, 9, autosomal, with male infertility +OMIM:618947 skos:exactMatch UMLS:C5436453 Unspecified arthrogryposis multiplex congenita 5 +OMIM:618949 skos:exactMatch UMLS:C1825154 Unspecified RIMKLA +OMIM:618949 skos:exactMatch HGNC_symbol:RIMKLA Unspecified RIMKLA +OMIM:618949 skos:exactMatch HGNC:28725 Unspecified RIMKLA +OMIM:606973 skos:exactMatch HGNC_symbol:COG1 Unspecified COG1 +OMIM:606973 skos:exactMatch HGNC:6545 Unspecified COG1 +OMIM:606973 skos:exactMatch UMLS:C1416821 Unspecified COG1 +OMIM:604310 skos:exactMatch HGNC:8549 Unspecified BLOC1S6 +OMIM:604310 skos:exactMatch UMLS:C1418225 Unspecified BLOC1S6 +OMIM:604310 skos:exactMatch HGNC_symbol:BLOC1S6 Unspecified BLOC1S6 +OMIM:606974 skos:exactMatch HGNC_symbol:COG2 Unspecified COG2 +OMIM:606974 skos:exactMatch HGNC:6546 Unspecified COG2 +OMIM:606974 skos:exactMatch UMLS:C1416822 Unspecified COG2 +OMIM:604312 skos:exactMatch UMLS:C1413772 Unspecified CST3 +OMIM:604312 skos:exactMatch HGNC_symbol:CST3 Unspecified CST3 +OMIM:604312 skos:exactMatch HGNC:2475 Unspecified CST3 +OMIM:604311 skos:exactMatch UMLS:C1335237 Unspecified MED1 +OMIM:604311 skos:exactMatch HGNC_symbol:MED1 Unspecified MED1 +OMIM:604311 skos:exactMatch HGNC:9234 Unspecified MED1 +OMIM:606972 skos:exactMatch UMLS:C1846992 Unspecified epilepsy, idiopathic generalized, susceptibility to, 2 +OMIM:214150 skos:exactMatch ORPHA:1466 Unspecified cerebrooculofacioskeletal syndrome 1 +OMIM:214150 skos:exactMatch ORPHA:191 Unspecified cerebrooculofacioskeletal syndrome 1 +OMIM:214150 skos:exactMatch UMLS:C0220722 Unspecified cerebrooculofacioskeletal syndrome 1 +OMIM:180295 skos:exactMatch UMLS:C1867234 Unspecified rhabdomyosarcoma, embryonal, 2 +OMIM:180297 skos:exactMatch HGNC:10006 Unspecified RHAG +OMIM:180297 skos:exactMatch HGNC_symbol:RHAG Unspecified RHAG +OMIM:180297 skos:exactMatch UMLS:C1419379 Unspecified RHAG +OMIM:616480 skos:exactMatch HGNC_symbol:KIAA1328 Unspecified KIAA1328 +OMIM:616480 skos:exactMatch HGNC:29248 Unspecified KIAA1328 +OMIM:616480 skos:exactMatch UMLS:C1537469 Unspecified KIAA1328 +OMIM:616481 skos:exactMatch UMLS:C4225311 Unspecified ciliary dyskinesia, primary, 32 +OMIM:616482 skos:exactMatch UMLS:C2674173 Unspecified achondroplasia, severe, with developmental delay and acanthosis nigricans +OMIM:616483 skos:exactMatch UMLS:C3809651 Unspecified infantile liver failure syndrome 2 +OMIM:616484 skos:exactMatch UMLS:C2986382 Unspecified TAX1BP3 +OMIM:616484 skos:exactMatch HGNC_symbol:TAX1BP3 Unspecified TAX1BP3 +OMIM:616484 skos:exactMatch HGNC:30684 Unspecified TAX1BP3 +OMIM:616484 skos:exactMatch UMLS:C1539930 Unspecified TAX1BP3 +OMIM:616485 skos:exactMatch UMLS:C1421775 Unspecified ZBTB21 +OMIM:616485 skos:exactMatch HGNC_symbol:ZBTB21 Unspecified ZBTB21 +OMIM:616485 skos:exactMatch HGNC:13083 Unspecified ZBTB21 +OMIM:616486 skos:exactMatch UMLS:C4225310 Unspecified neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities +OMIM:616486 skos:exactMatch ORPHA:2512 Unspecified neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities +OMIM:180290 skos:exactMatch HGNC_symbol:RBP3 Unspecified RBP3 +OMIM:180290 skos:exactMatch HGNC:9921 Unspecified RBP3 +OMIM:180290 skos:exactMatch UMLS:C1419319 Unspecified RBP3 +OMIM:616487 skos:exactMatch UMLS:C4225309 Unspecified epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive +OMIM:616488 skos:exactMatch UMLS:C4225308 Unspecified neuropathy, hereditary sensory and autonomic, iia 8 +OMIM:616489 skos:exactMatch UMLS:C4225307 Unspecified silver-russell syndrome 3 +OMIM:616489 skos:exactMatch ORPHA:813 Unspecified silver-russell syndrome 3 +OMIM:616489 skos:exactMatch ORPHA:397590 Unspecified silver-russell syndrome 3 +OMIM:616479 skos:exactMatch UMLS:C4225312 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 +OMIM:277720 skos:exactMatch UMLS:C1848470 Unspecified whistling face syndrome, recessive form +OMIM:604489 skos:exactMatch HGNC_symbol:AMACR Unspecified AMACR +OMIM:604489 skos:exactMatch HGNC:451 Unspecified AMACR +OMIM:604489 skos:exactMatch UMLS:C1412374 Unspecified AMACR +OMIM:616470 skos:exactMatch UMLS:C4225314 Unspecified ullrich congenital muscular dystrophy 2 +OMIM:616471 skos:exactMatch UMLS:C4225313 Unspecified bethlem myopathy 2 +OMIM:616471 skos:exactMatch ORPHA:610 Unspecified bethlem myopathy 2 +OMIM:300601 skos:exactMatch HGNC:4104 Unspecified GAGE7 +OMIM:300601 skos:exactMatch HGNC_symbol:GAGE7 Unspecified GAGE7 +OMIM:300601 skos:exactMatch UMLS:C1414936 Unspecified GAGE7 +OMIM:616472 skos:exactMatch HGNC_symbol:UBAP2L Unspecified UBAP2L +OMIM:616472 skos:exactMatch UMLS:C1540144 Unspecified UBAP2L +OMIM:616472 skos:exactMatch HGNC:29877 Unspecified UBAP2L +OMIM:300600 skos:exactMatch UMLS:C0268505 Unspecified aland island eye disease +OMIM:616473 skos:exactMatch UMLS:C1826137 Unspecified MIR558 +OMIM:616473 skos:exactMatch HGNC_symbol:MIR558 Unspecified MIR558 +OMIM:616473 skos:exactMatch HGNC:32814 Unspecified MIR558 +OMIM:300603 skos:exactMatch HGNC:13711 Unspecified POF1B +OMIM:300603 skos:exactMatch UMLS:C1538691 Unspecified POF1B +OMIM:300603 skos:exactMatch HGNC_symbol:POF1B Unspecified POF1B +OMIM:616474 skos:exactMatch HGNC:12978 Unspecified ZSCAN26 +OMIM:616474 skos:exactMatch HGNC_symbol:ZSCAN26 Unspecified ZSCAN26 +OMIM:616474 skos:exactMatch UMLS:C1421676 Unspecified ZSCAN26 +OMIM:300605 skos:exactMatch UMLS:C1845104 Unspecified retinitis pigmentosa 34 +OMIM:616475 skos:exactMatch UMLS:C1824714 Unspecified CEP72 +OMIM:616475 skos:exactMatch HGNC_symbol:CEP72 Unspecified CEP72 +OMIM:616475 skos:exactMatch HGNC:25547 Unspecified CEP72 +OMIM:300604 skos:exactMatch UMLS:C1845105 Unspecified premature ovarian failure 2b +OMIM:616476 skos:exactMatch HGNC:25892 Unspecified AGBL4 +OMIM:616476 skos:exactMatch UMLS:C1826610 Unspecified AGBL4 +OMIM:616476 skos:exactMatch HGNC_symbol:AGBL4 Unspecified AGBL4 +OMIM:616477 skos:exactMatch HGNC:19692 Unspecified NRBF2 +OMIM:616477 skos:exactMatch HGNC_symbol:NRBF2 Unspecified NRBF2 +OMIM:616477 skos:exactMatch UMLS:C1426338 Unspecified NRBF2 +OMIM:300607 skos:exactMatch ORPHA:2076 Unspecified developmental and epileptic encephalopathy 8 +OMIM:300607 skos:exactMatch UMLS:C1845102 Unspecified developmental and epileptic encephalopathy 8 +OMIM:300607 skos:exactMatch ORPHA:163985 Unspecified developmental and epileptic encephalopathy 8 +OMIM:616478 skos:exactMatch UMLS:C1825873 Unspecified LRGUK +OMIM:616478 skos:exactMatch HGNC:21964 Unspecified LRGUK +OMIM:616478 skos:exactMatch HGNC_symbol:LRGUK Unspecified LRGUK +OMIM:616468 skos:exactMatch UMLS:C4225316 Unspecified exudative vitreoretinopathy 6 +OMIM:300609 skos:exactMatch HGNC_symbol:MSL3 Unspecified MSL3 +OMIM:300609 skos:exactMatch HGNC:7370 Unspecified MSL3 +OMIM:300609 skos:exactMatch UMLS:C1845101 Unspecified MSL3 +OMIM:616469 skos:exactMatch UMLS:C4225315 Unspecified retinitis pigmentosa 72 +OMIM:300608 skos:exactMatch UMLS:C1424566 Unspecified DACH2 +OMIM:300608 skos:exactMatch HGNC_symbol:DACH2 Unspecified DACH2 +OMIM:300608 skos:exactMatch HGNC:16814 Unspecified DACH2 +OMIM:604491 skos:exactMatch HGNC_symbol:CBLB Unspecified CBLB +OMIM:604491 skos:exactMatch HGNC:1542 Unspecified CBLB +OMIM:604491 skos:exactMatch UMLS:C1332672 Unspecified CBLB +OMIM:604490 skos:exactMatch HGNC:10519 Unspecified SACS +OMIM:604490 skos:exactMatch HGNC_symbol:SACS Unspecified SACS +OMIM:604490 skos:exactMatch UMLS:C1419804 Unspecified SACS +OMIM:604493 skos:exactMatch HGNC_symbol:GJB5 Unspecified GJB5 +OMIM:604493 skos:exactMatch UMLS:C1415080 Unspecified GJB5 +OMIM:604493 skos:exactMatch HGNC:4287 Unspecified GJB5 +OMIM:604492 skos:exactMatch HGNC_symbol:VDAC1 Unspecified VDAC1 +OMIM:604492 skos:exactMatch UMLS:C1336930 Unspecified VDAC1 +OMIM:604492 skos:exactMatch HGNC:12669 Unspecified VDAC1 +OMIM:604495 skos:exactMatch UMLS:C1417709 Unspecified NFKBIB +OMIM:604495 skos:exactMatch HGNC:7798 Unspecified NFKBIB +OMIM:604495 skos:exactMatch HGNC_symbol:NFKBIB Unspecified NFKBIB +OMIM:251100 skos:exactMatch UMLS:C1855109 Unspecified methylmalonic aciduria, cbla iia +OMIM:604494 skos:exactMatch HGNC:5988 Unspecified IL18R1 +OMIM:604494 skos:exactMatch UMLS:C1416393 Unspecified IL18R1 +OMIM:604494 skos:exactMatch HGNC_symbol:IL18R1 Unspecified IL18R1 +OMIM:604497 skos:exactMatch HGNC:17898 Unspecified NKIRAS2 +OMIM:604497 skos:exactMatch UMLS:C1425159 Unspecified NKIRAS2 +OMIM:604497 skos:exactMatch HGNC_symbol:NKIRAS2 Unspecified NKIRAS2 +OMIM:604496 skos:exactMatch HGNC:17899 Unspecified NKIRAS1 +OMIM:604496 skos:exactMatch UMLS:C1425160 Unspecified NKIRAS1 +OMIM:604496 skos:exactMatch HGNC_symbol:NKIRAS1 Unspecified NKIRAS1 +OMIM:604499 skos:exactMatch UMLS:C1858308 Unspecified hyperlipidemia, familial combined, 2 +OMIM:604498 skos:exactMatch UMLS:C1327915 Unspecified amegakaryocytic thrombocytopenia, congenital +OMIM:604479 skos:exactMatch HGNC:14929 Unspecified SIRT1 +OMIM:604479 skos:exactMatch UMLS:C1423062 Unspecified SIRT1 +OMIM:604479 skos:exactMatch HGNC_symbol:SIRT1 Unspecified SIRT1 +OMIM:604478 skos:exactMatch HGNC_symbol:CBX5 Unspecified CBX5 +OMIM:604478 skos:exactMatch HGNC:1555 Unspecified CBX5 +OMIM:604478 skos:exactMatch UMLS:C1413160 Unspecified CBX5 +OMIM:616460 skos:exactMatch UMLS:C4225319 Unspecified intellectual developmental disorder, autosomal recessive 50 +OMIM:616461 skos:exactMatch UMLS:C4225318 Unspecified epilepsy, familial temporal lobe, 8 +OMIM:616462 skos:exactMatch UMLS:C4225317 Unspecified acrofacial dysostosis, cincinnati iia +OMIM:616463 skos:exactMatch HGNC_symbol:ZNF232 Unspecified ZNF232 +OMIM:616463 skos:exactMatch UMLS:C1421721 Unspecified ZNF232 +OMIM:616463 skos:exactMatch HGNC:13026 Unspecified ZNF232 +OMIM:616464 skos:exactMatch UMLS:C1825023 Unspecified ECD +OMIM:616464 skos:exactMatch HGNC:17029 Unspecified ECD +OMIM:616464 skos:exactMatch HGNC_symbol:ECD Unspecified ECD +OMIM:616465 skos:exactMatch HGNC:25956 Unspecified VPS50 +OMIM:616465 skos:exactMatch HGNC_symbol:VPS50 Unspecified VPS50 +OMIM:616465 skos:exactMatch UMLS:C1824659 Unspecified VPS50 +OMIM:616466 skos:exactMatch HGNC_symbol:UNC5D Unspecified UNC5D +OMIM:616466 skos:exactMatch HGNC:18634 Unspecified UNC5D +OMIM:616466 skos:exactMatch UMLS:C1425664 Unspecified UNC5D +OMIM:616467 skos:exactMatch UMLS:C2829279 Unspecified DPCD +OMIM:616467 skos:exactMatch HGNC:24542 Unspecified DPCD +OMIM:616467 skos:exactMatch HGNC_symbol:DPCD Unspecified DPCD +OMIM:180270 skos:exactMatch UMLS:C1867235 Unspecified retinoschisis, autosomal dominant +OMIM:616457 skos:exactMatch ORPHA:448010 Unspecified developmental and epileptic encephalopathy 50 +OMIM:616457 skos:exactMatch UMLS:C4225320 Unspecified developmental and epileptic encephalopathy 50 +OMIM:616458 skos:exactMatch HGNC:13997 Unspecified PRDM12 +OMIM:616458 skos:exactMatch UMLS:C1422334 Unspecified PRDM12 +OMIM:616458 skos:exactMatch HGNC_symbol:PRDM12 Unspecified PRDM12 +OMIM:616459 skos:exactMatch UMLS:C4085595 Unspecified al-raqad syndrome +OMIM:604480 skos:exactMatch UMLS:C1420071 Unspecified SIRT2 +OMIM:604480 skos:exactMatch HGNC:10886 Unspecified SIRT2 +OMIM:604480 skos:exactMatch HGNC_symbol:SIRT2 Unspecified SIRT2 +OMIM:277700 skos:exactMatch UMLS:C0043119 Unspecified werner syndrome +OMIM:604482 skos:exactMatch HGNC_symbol:SIRT4 Unspecified SIRT4 +OMIM:604482 skos:exactMatch HGNC:14932 Unspecified SIRT4 +OMIM:604482 skos:exactMatch UMLS:C1423064 Unspecified SIRT4 +OMIM:604481 skos:exactMatch HGNC_symbol:SIRT3 Unspecified SIRT3 +OMIM:604481 skos:exactMatch UMLS:C1423063 Unspecified SIRT3 +OMIM:604481 skos:exactMatch HGNC:14931 Unspecified SIRT3 +OMIM:604484 skos:exactMatch ORPHA:435819 Unspecified neuropathy, hereditary motor and sensory, okinawa iia +OMIM:604484 skos:exactMatch UMLS:C1858338 Unspecified neuropathy, hereditary motor and sensory, okinawa iia +OMIM:604484 skos:exactMatch ORPHA:90117 Unspecified neuropathy, hereditary motor and sensory, okinawa iia +OMIM:604483 skos:exactMatch HGNC_symbol:SIRT5 Unspecified SIRT5 +OMIM:604483 skos:exactMatch UMLS:C1423065 Unspecified SIRT5 +OMIM:604483 skos:exactMatch HGNC:14933 Unspecified SIRT5 +OMIM:604486 skos:exactMatch UMLS:C1418799 Unspecified PPIF +OMIM:604486 skos:exactMatch HGNC_symbol:PPIF Unspecified PPIF +OMIM:604486 skos:exactMatch HGNC:9259 Unspecified PPIF +OMIM:604485 skos:exactMatch UMLS:C1417832 Unspecified NR2E3 +OMIM:604485 skos:exactMatch HGNC_symbol:NR2E3 Unspecified NR2E3 +OMIM:604485 skos:exactMatch HGNC:7974 Unspecified NR2E3 +OMIM:604488 skos:exactMatch HGNC:11610 Unspecified TCAP +OMIM:604488 skos:exactMatch UMLS:C1420621 Unspecified TCAP +OMIM:604488 skos:exactMatch HGNC_symbol:TCAP Unspecified TCAP +OMIM:604487 skos:exactMatch UMLS:C1418196 Unspecified OTOG +OMIM:604487 skos:exactMatch HGNC_symbol:OTOG Unspecified OTOG +OMIM:604487 skos:exactMatch HGNC:8516 Unspecified OTOG +OMIM:604468 skos:exactMatch HGNC:6858 Unspecified MAP3K6 +OMIM:604468 skos:exactMatch UMLS:C1417015 Unspecified MAP3K6 +OMIM:604468 skos:exactMatch HGNC_symbol:MAP3K6 Unspecified MAP3K6 +OMIM:604467 skos:exactMatch HGNC:7153 Unspecified MMD +OMIM:604467 skos:exactMatch HGNC_symbol:MMD Unspecified MMD +OMIM:604467 skos:exactMatch UMLS:C1417198 Unspecified MMD +OMIM:241760 skos:exactMatch UMLS:C0795989 Unspecified hypospadias-mental retardation syndrome +OMIM:604469 skos:exactMatch HGNC_symbol:EXOC5 Unspecified EXOC5 +OMIM:604469 skos:exactMatch UMLS:C1825078 Unspecified EXOC5 +OMIM:604469 skos:exactMatch HGNC:10696 Unspecified EXOC5 +OMIM:616450 skos:exactMatch HGNC_symbol:EFHD2 Unspecified EFHD2 +OMIM:616450 skos:exactMatch UMLS:C1428731 Unspecified EFHD2 +OMIM:616450 skos:exactMatch HGNC:28670 Unspecified EFHD2 +OMIM:616451 skos:exactMatch UMLS:C4225322 Unspecified spastic paraplegia 74, autosomal recessive +OMIM:616452 skos:exactMatch UMLS:C4551967 Unspecified b-cell expansion with nfkb and t-cell anergy +OMIM:616453 skos:exactMatch HGNC_symbol:ZC3H13 Unspecified ZC3H13 +OMIM:616453 skos:exactMatch HGNC:20368 Unspecified ZC3H13 +OMIM:616453 skos:exactMatch UMLS:C1823928 Unspecified ZC3H13 +OMIM:616454 skos:exactMatch HGNC_symbol:ZNF408 Unspecified ZNF408 +OMIM:616454 skos:exactMatch HGNC:20041 Unspecified ZNF408 +OMIM:616454 skos:exactMatch UMLS:C1426631 Unspecified ZNF408 +OMIM:180280 skos:exactMatch HGNC_symbol:RBP2 Unspecified RBP2 +OMIM:180280 skos:exactMatch HGNC:9920 Unspecified RBP2 +OMIM:180280 skos:exactMatch UMLS:C1419318 Unspecified RBP2 +OMIM:616455 skos:exactMatch UMLS:C4225321 Unspecified zimmermann-laband syndrome 2 +OMIM:616456 skos:exactMatch HGNC_symbol:INO80B Unspecified INO80B +OMIM:616456 skos:exactMatch HGNC:13324 Unspecified INO80B +OMIM:616456 skos:exactMatch UMLS:C1824078 Unspecified INO80B +OMIM:616446 skos:exactMatch UMLS:C1823791 Unspecified LEXM +OMIM:616446 skos:exactMatch HGNC:26854 Unspecified LEXM +OMIM:616446 skos:exactMatch HGNC_symbol:LEXM Unspecified LEXM +OMIM:226150 skos:exactMatch UMLS:C0014356 Unspecified enterocolitis +OMIM:616447 skos:exactMatch HGNC:24500 Unspecified VIRMA +OMIM:616447 skos:exactMatch HGNC_symbol:VIRMA Unspecified VIRMA +OMIM:616447 skos:exactMatch UMLS:C1825689 Unspecified VIRMA +OMIM:616448 skos:exactMatch HGNC:31332 Unspecified RAB12 +OMIM:616448 skos:exactMatch UMLS:C1538769 Unspecified RAB12 +OMIM:616448 skos:exactMatch HGNC_symbol:RAB12 Unspecified RAB12 +OMIM:616449 skos:exactMatch UMLS:C4225323 Unspecified basel-vanagaite-smirin-yosef syndrome +OMIM:604471 skos:exactMatch UMLS:C1420125 Unspecified SLC1A7 +OMIM:604471 skos:exactMatch HGNC_symbol:SLC1A7 Unspecified SLC1A7 +OMIM:604471 skos:exactMatch HGNC:10945 Unspecified SLC1A7 +OMIM:604470 skos:exactMatch HGNC_symbol:CD2BP2 Unspecified CD2BP2 +OMIM:604470 skos:exactMatch HGNC:1656 Unspecified CD2BP2 +OMIM:604470 skos:exactMatch UMLS:C1413217 Unspecified CD2BP2 +OMIM:604473 skos:exactMatch UMLS:C1333711 Unspecified GRM1 +OMIM:604473 skos:exactMatch HGNC:4593 Unspecified GRM1 +OMIM:604473 skos:exactMatch HGNC_symbol:GRM1 Unspecified GRM1 +OMIM:604473 skos:exactMatch UMLS:C3553816 Unspecified GRM1 +OMIM:604473 skos:exactMatch UMLS:C4521563 Unspecified GRM1 +OMIM:604472 skos:exactMatch HGNC:11928 Unspecified TNFSF13 +OMIM:604472 skos:exactMatch HGNC_symbol:TNFSF13 Unspecified TNFSF13 +OMIM:604472 skos:exactMatch UMLS:C1420815 Unspecified TNFSF13 +OMIM:604475 skos:exactMatch HGNC_symbol:RTN4 Unspecified RTN4 +OMIM:604475 skos:exactMatch UMLS:C1366527 Unspecified RTN4 +OMIM:604475 skos:exactMatch HGNC:14085 Unspecified RTN4 +OMIM:604474 skos:exactMatch UMLS:C1858340 Unspecified human herpesvirus iia 6, integrated +OMIM:604477 skos:exactMatch HGNC_symbol:CBX3 Unspecified CBX3 +OMIM:604477 skos:exactMatch HGNC:1553 Unspecified CBX3 +OMIM:604477 skos:exactMatch UMLS:C1413158 Unspecified CBX3 +OMIM:300632 skos:exactMatch HGNC:28034 Unspecified PDZD11 +OMIM:300632 skos:exactMatch HGNC_symbol:PDZD11 Unspecified PDZD11 +OMIM:300632 skos:exactMatch UMLS:C1538621 Unspecified PDZD11 +OMIM:300631 skos:exactMatch HGNC:29437 Unspecified CLTRN +OMIM:300631 skos:exactMatch UMLS:C1539996 Unspecified CLTRN +OMIM:300631 skos:exactMatch HGNC_symbol:CLTRN Unspecified CLTRN +OMIM:300634 skos:exactMatch HGNC_symbol:PDZD4 Unspecified PDZD4 +OMIM:300634 skos:exactMatch HGNC:21167 Unspecified PDZD4 +OMIM:300634 skos:exactMatch UMLS:C1538616 Unspecified PDZD4 +OMIM:300633 skos:exactMatch UMLS:C2678098 Unspecified hypospadias 1, X-linked +OMIM:300636 skos:exactMatch ORPHA:319605 Unspecified immunodeficiency 33 +OMIM:300636 skos:exactMatch ORPHA:319612 Unspecified immunodeficiency 33 +OMIM:300636 skos:exactMatch UMLS:C1970879 Unspecified immunodeficiency 33 +OMIM:300635 skos:exactMatch UMLS:C1845076 Unspecified lymphoproliferative syndrome, x-linked, 2 +OMIM:300638 skos:exactMatch HGNC:4106 Unspecified GAGE8 +OMIM:300638 skos:exactMatch HGNC_symbol:GAGE8 Unspecified GAGE8 +OMIM:300638 skos:exactMatch UMLS:C1414938 Unspecified GAGE8 +OMIM:300637 skos:exactMatch UMLS:C1414937 Unspecified GAGE12I +OMIM:300637 skos:exactMatch HGNC_symbol:GAGE12I Unspecified GAGE12I +OMIM:300637 skos:exactMatch HGNC:4105 Unspecified GAGE12I +OMIM:312610 skos:exactMatch UMLS:C1419623 Unspecified RPGR +OMIM:312610 skos:exactMatch HGNC_symbol:RPGR Unspecified RPGR +OMIM:312610 skos:exactMatch HGNC:10295 Unspecified RPGR +OMIM:312612 skos:exactMatch UMLS:C1839368 Unspecified retinitis pigmentosa 6 +OMIM:214100 skos:exactMatch UMLS:C1865804 Unspecified peroxisome biogenesis disorder 1a (zellweger) +OMIM:214100 skos:exactMatch UMLS:C1865803 Unspecified peroxisome biogenesis disorder 1a (zellweger) +OMIM:214100 skos:exactMatch UMLS:C4721541 Unspecified peroxisome biogenesis disorder 1a (zellweger) +OMIM:214100 skos:exactMatch UMLS:C0043459 Unspecified peroxisome biogenesis disorder 1a (zellweger) +OMIM:300641 skos:exactMatch UMLS:C1822752 Unspecified SLC25A43 +OMIM:300641 skos:exactMatch HGNC:30557 Unspecified SLC25A43 +OMIM:300641 skos:exactMatch HGNC_symbol:SLC25A43 Unspecified SLC25A43 +OMIM:300643 skos:exactMatch UMLS:C1845070 Unspecified rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked +OMIM:300642 skos:exactMatch HGNC:30668 Unspecified SRPX2 +OMIM:300642 skos:exactMatch UMLS:C1539853 Unspecified SRPX2 +OMIM:300642 skos:exactMatch HGNC_symbol:SRPX2 Unspecified SRPX2 +OMIM:300645 skos:exactMatch UMLS:C1970859 Unspecified immunodeficiency 34 +OMIM:300644 skos:exactMatch UMLS:C1439334 Unspecified GLA +OMIM:300644 skos:exactMatch HGNC_symbol:GLA Unspecified GLA +OMIM:300644 skos:exactMatch HGNC:4296 Unspecified GLA +OMIM:300647 skos:exactMatch UMLS:C1825263 Unspecified AMER1 +OMIM:300647 skos:exactMatch HGNC:26837 Unspecified AMER1 +OMIM:300647 skos:exactMatch HGNC_symbol:AMER1 Unspecified AMER1 +OMIM:300646 skos:exactMatch HGNC:18475 Unspecified ZDHHC9 +OMIM:300646 skos:exactMatch HGNC_symbol:ZDHHC9 Unspecified ZDHHC9 +OMIM:300646 skos:exactMatch UMLS:C3275406 Unspecified ZDHHC9 +OMIM:300646 skos:exactMatch UMLS:C1425540 Unspecified ZDHHC9 +OMIM:300649 skos:exactMatch HGNC:18070 Unspecified SLC38A5 +OMIM:300649 skos:exactMatch UMLS:C1425281 Unspecified SLC38A5 +OMIM:300649 skos:exactMatch HGNC_symbol:SLC38A5 Unspecified SLC38A5 +OMIM:300648 skos:exactMatch HGNC:33267 Unspecified CT45A1 +OMIM:300648 skos:exactMatch HGNC_symbol:CT45A1 Unspecified CT45A1 +OMIM:300648 skos:exactMatch UMLS:C1970854 Unspecified CT45A1 +OMIM:214110 skos:exactMatch UMLS:C3550274 Unspecified peroxisome biogenesis disorder 2a (zellweger) +OMIM:214110 skos:exactMatch UMLS:C3550273 Unspecified peroxisome biogenesis disorder 2a (zellweger) +OMIM:300610 skos:exactMatch UMLS:C1845100 Unspecified HNRNPH2 +OMIM:300610 skos:exactMatch HGNC:5042 Unspecified HNRNPH2 +OMIM:300610 skos:exactMatch HGNC_symbol:HNRNPH2 Unspecified HNRNPH2 +OMIM:300611 skos:exactMatch UMLS:C1538974 Unspecified C1GALT1C1 +OMIM:300611 skos:exactMatch HGNC_symbol:C1GALT1C1 Unspecified C1GALT1C1 +OMIM:300611 skos:exactMatch HGNC:24338 Unspecified C1GALT1C1 +OMIM:300614 skos:exactMatch ORPHA:139583 Unspecified deafness, X-linked 5, with peripheral neuropathy +OMIM:300614 skos:exactMatch UMLS:C1845095 Unspecified deafness, X-linked 5, with peripheral neuropathy +OMIM:300613 skos:exactMatch UMLS:C1845096 Unspecified myopia 13, X-linked +OMIM:300616 skos:exactMatch HGNC_symbol:LUZP4 Unspecified LUZP4 +OMIM:300616 skos:exactMatch HGNC:24971 Unspecified LUZP4 +OMIM:300616 skos:exactMatch UMLS:C1537622 Unspecified LUZP4 +OMIM:300615 skos:exactMatch UMLS:C4310831 Unspecified brunner syndrome +OMIM:300615 skos:exactMatch UMLS:C0796275 Unspecified brunner syndrome +OMIM:300618 skos:exactMatch HGNC_symbol:JADE3 Unspecified PHF16 +OMIM:300618 skos:exactMatch HGNC:22982 Unspecified PHF16 +OMIM:300618 skos:exactMatch UMLS:C1427834 Unspecified PHF16 +OMIM:300617 skos:exactMatch HGNC:24185 Unspecified BRCC3 +OMIM:300617 skos:exactMatch UMLS:C1826632 Unspecified BRCC3 +OMIM:300617 skos:exactMatch HGNC_symbol:BRCC3 Unspecified BRCC3 +OMIM:202150 skos:exactMatch UMLS:C1859978 Unspecified adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone +OMIM:300619 skos:exactMatch UMLS:C1845094 Unspecified cataract, ataxia, short stature, and mental retardation +OMIM:616490 skos:exactMatch UMLS:C4084822 Unspecified joubert syndrome 23 +OMIM:300621 skos:exactMatch UMLS:C1823108 Unspecified SPIN2A +OMIM:300621 skos:exactMatch HGNC_symbol:SPIN2A Unspecified SPIN2A +OMIM:300621 skos:exactMatch HGNC:20694 Unspecified SPIN2A +OMIM:616491 skos:exactMatch UMLS:C4225306 Unspecified charcot-marie-tooth disease, axonal, iia 2v +OMIM:616492 skos:exactMatch HGNC_symbol:EWSAT1 Unspecified EWSAT1 +OMIM:616492 skos:exactMatch HGNC:26596 Unspecified EWSAT1 +OMIM:616492 skos:exactMatch UMLS:C3470644 Unspecified EWSAT1 +OMIM:300620 skos:exactMatch HGNC:28675 Unspecified VSIG1 +OMIM:300620 skos:exactMatch HGNC_symbol:VSIG1 Unspecified VSIG1 +OMIM:300620 skos:exactMatch UMLS:C1538069 Unspecified VSIG1 +OMIM:300623 skos:exactMatch UMLS:C1839780 Unspecified fragile 10 tremor/ataxia syndrome +OMIM:616493 skos:exactMatch HGNC_symbol:TASOR Unspecified FAM208A +OMIM:616493 skos:exactMatch HGNC:30314 Unspecified FAM208A +OMIM:616493 skos:exactMatch UMLS:C3470282 Unspecified FAM208A +OMIM:616494 skos:exactMatch UMLS:C4225305 Unspecified leukodystrophy, hypomyelinating, 11 +OMIM:300622 skos:exactMatch UMLS:C0272137 Unspecified tn polyagglutination syndrome +OMIM:300625 skos:exactMatch HGNC:33494 Unspecified CT83 +OMIM:300625 skos:exactMatch UMLS:C1845087 Unspecified CT83 +OMIM:300625 skos:exactMatch HGNC_symbol:CT83 Unspecified CT83 +OMIM:616495 skos:exactMatch UMLS:C2986382 Unspecified ARL6IP6 +OMIM:616495 skos:exactMatch HGNC_symbol:ARL6IP6 Unspecified ARL6IP6 +OMIM:616495 skos:exactMatch HGNC:24048 Unspecified ARL6IP6 +OMIM:616495 skos:exactMatch UMLS:C1538932 Unspecified ARL6IP6 +OMIM:300624 skos:exactMatch UMLS:C0016667 Unspecified fragile 10 syndrome +OMIM:226100 skos:exactMatch UMLS:C1856971 Unspecified endocardial fibroelastosis and coarctation of abdominal aorta +OMIM:616496 skos:exactMatch HGNC:29001 Unspecified NEMP1 +OMIM:616496 skos:exactMatch HGNC_symbol:NEMP1 Unspecified NEMP1 +OMIM:616496 skos:exactMatch UMLS:C2240100 Unspecified NEMP1 +OMIM:300627 skos:exactMatch HGNC:21039 Unspecified ZNF449 +OMIM:300627 skos:exactMatch HGNC_symbol:ZNF449 Unspecified ZNF449 +OMIM:300627 skos:exactMatch UMLS:C1427265 Unspecified ZNF449 +OMIM:616497 skos:exactMatch HGNC:33700 Unspecified NEMP2 +OMIM:616497 skos:exactMatch UMLS:C2240101 Unspecified NEMP2 +OMIM:616497 skos:exactMatch HGNC_symbol:NEMP2 Unspecified NEMP2 +OMIM:300626 skos:exactMatch HGNC_symbol:ASB11 Unspecified ASB11 +OMIM:300626 skos:exactMatch HGNC:17186 Unspecified ASB11 +OMIM:300626 skos:exactMatch UMLS:C1424807 Unspecified ASB11 +OMIM:616498 skos:exactMatch HGNC:27258 Unspecified RETREG3 +OMIM:616498 skos:exactMatch UMLS:C2239426 Unspecified RETREG3 +OMIM:616498 skos:exactMatch HGNC_symbol:RETREG3 Unspecified RETREG3 +OMIM:616499 skos:exactMatch UMLS:C2240109 Unspecified TMEM203 +OMIM:616499 skos:exactMatch HGNC:28217 Unspecified TMEM203 +OMIM:616499 skos:exactMatch HGNC_symbol:TMEM203 Unspecified TMEM203 +OMIM:300629 skos:exactMatch HGNC_symbol:AP1S2 Unspecified AP1S2 +OMIM:300629 skos:exactMatch HGNC:560 Unspecified AP1S2 +OMIM:300629 skos:exactMatch UMLS:C1412440 Unspecified AP1S2 +OMIM:300628 skos:exactMatch HGNC_symbol:FRMD7 Unspecified FRMD7 +OMIM:300628 skos:exactMatch UMLS:C1825315 Unspecified FRMD7 +OMIM:300628 skos:exactMatch HGNC:8079 Unspecified FRMD7 +OMIM:202155 skos:exactMatch UMLS:C1859977 Unspecified adrenal hypoplasia, cytomegalic iia +OMIM:226110 skos:exactMatch UMLS:C1856970 Unspecified endothelial dystrophy, congenital hereditary, with nail hypoplasia +OMIM:312600 skos:exactMatch UMLS:C2681923 Unspecified retinitis pigmentosa 2 +OMIM:253700 skos:exactMatch UMLS:C0410173 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 5 +OMIM:133900 skos:exactMatch UMLS:C1399354 Unspecified hemifacial hyperplasia +OMIM:204750 skos:exactMatch UMLS:C1859817 Unspecified alpha-aminoadipic and alpha-ketoadipic aciduria +OMIM:145900 skos:exactMatch ORPHA:64748 Unspecified hypertrophic neuropathy of dejerine-sottas +OMIM:145900 skos:exactMatch UMLS:C0011195 Unspecified hypertrophic neuropathy of dejerine-sottas +OMIM:202110 skos:exactMatch UMLS:C3277849 Unspecified adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency +OMIM:202110 skos:exactMatch UMLS:C0268285 Unspecified adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency +OMIM:106280 skos:exactMatch UMLS:C4759698 Unspecified ankyloglossia with or without tooth anomalies +OMIM:204700 skos:exactMatch UMLS:C2673922 Unspecified amelogenesis imperfecta, hypomaturation type, iia1 +OMIM:157900 skos:exactMatch ORPHA:570 Unspecified moebius syndrome +OMIM:157900 skos:exactMatch UMLS:C0221060 Unspecified moebius syndrome +OMIM:106260 skos:exactMatch ORPHA:1071 Unspecified ankyloblepharon-ectodermal defects-cleft lip/palate +OMIM:106260 skos:exactMatch UMLS:C0406709 Unspecified ankyloblepharon-ectodermal defects-cleft lip/palate +OMIM:131300 skos:exactMatch UMLS:C0011989 Unspecified camurati-engelmann disease +OMIM:170900 skos:exactMatch UMLS:C0002892 Unspecified pernicious anemia +OMIM:216700 skos:exactMatch UMLS:C1857624 Unspecified collagenosis, familial reactive perforating +OMIM:131310 skos:exactMatch HGNC:3343 Unspecified EN2 +OMIM:131310 skos:exactMatch HGNC_symbol:EN2 Unspecified EN2 +OMIM:131310 skos:exactMatch UMLS:C1414396 Unspecified EN2 +OMIM:204730 skos:exactMatch UMLS:C1859818 Unspecified amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis +OMIM:169900 skos:exactMatch HGNC:8838 Unspecified PEPB +OMIM:169900 skos:exactMatch HGNC_symbol:PEPB Unspecified PEPB +OMIM:169900 skos:exactMatch UMLS:C1418460 Unspecified PEPB +OMIM:131200 skos:exactMatch UMLS:C1851649 Unspecified endometriosis, susceptibility to, 1 +OMIM:118350 skos:exactMatch UMLS:C2930928 Unspecified chemodectoma, intraabdominal, with cutaneous angiolipomas +OMIM:131210 skos:exactMatch HGNC:10718 Unspecified SELE +OMIM:131210 skos:exactMatch UMLS:C1337114 Unspecified SELE +OMIM:131210 skos:exactMatch HGNC_symbol:SELE Unspecified SELE +OMIM:310095 skos:exactMatch UMLS:C1839669 Unspecified muscular dystrophy, progressive pectorodorsal +OMIM:169800 skos:exactMatch HGNC:24437 Unspecified CNDP2 +OMIM:169800 skos:exactMatch HGNC_symbol:CNDP2 Unspecified CNDP2 +OMIM:169800 skos:exactMatch UMLS:C1539110 Unspecified CNDP2 +OMIM:182800 skos:exactMatch UMLS:C1866852 Unspecified spastic paraplegia with associated extrapyramidal signs +OMIM:131220 skos:exactMatch HGNC:3665 Unspecified FGF1 +OMIM:131220 skos:exactMatch UMLS:C1333536 Unspecified FGF1 +OMIM:131220 skos:exactMatch HGNC_symbol:FGF1 Unspecified FGF1 +OMIM:131222 skos:exactMatch UMLS:C1333327 Unspecified TYMP +OMIM:131222 skos:exactMatch HGNC_symbol:TYMP Unspecified TYMP +OMIM:131222 skos:exactMatch HGNC:3148 Unspecified TYMP +OMIM:118330 skos:exactMatch UMLS:C0267034 Unspecified cheilitis glandularis +OMIM:143200 skos:exactMatch UMLS:C1840452 Unspecified wagner vitreoretinopathy +OMIM:131230 skos:exactMatch UMLS:C1332095 Unspecified ANXA5 +OMIM:131230 skos:exactMatch HGNC_symbol:ANXA5 Unspecified ANXA5 +OMIM:131230 skos:exactMatch HGNC:543 Unspecified ANXA5 +OMIM:131235 skos:exactMatch HGNC_symbol:KDELR1 Unspecified KDELR1 +OMIM:131235 skos:exactMatch UMLS:C1416622 Unspecified KDELR1 +OMIM:131235 skos:exactMatch HGNC:6304 Unspecified KDELR1 +OMIM:131242 skos:exactMatch UMLS:C1414261 Unspecified EDN3 +OMIM:131242 skos:exactMatch HGNC:3178 Unspecified EDN3 +OMIM:131242 skos:exactMatch HGNC_symbol:EDN3 Unspecified EDN3 +OMIM:131243 skos:exactMatch UMLS:C1414262 Unspecified EDNRA +OMIM:131243 skos:exactMatch HGNC_symbol:EDNRA Unspecified EDNRA +OMIM:131243 skos:exactMatch HGNC:3179 Unspecified EDNRA +OMIM:131240 skos:exactMatch UMLS:C3810332 Unspecified EDN1 +OMIM:131240 skos:exactMatch HGNC:3176 Unspecified EDN1 +OMIM:131240 skos:exactMatch HGNC_symbol:EDN1 Unspecified EDN1 +OMIM:131240 skos:exactMatch UMLS:C2748545 Unspecified EDN1 +OMIM:131240 skos:exactMatch UMLS:C5436939 Unspecified EDN1 +OMIM:131240 skos:exactMatch UMLS:C1414260 Unspecified EDN1 +OMIM:108980 skos:exactMatch UMLS:C3152251 Unspecified pr interval, variation 1n +OMIM:182830 skos:exactMatch UMLS:C1866849 Unspecified spastic paraplegia, optic atrophy, and dementia +OMIM:131241 skos:exactMatch UMLS:C1333329 Unspecified EDN2 +OMIM:131241 skos:exactMatch HGNC:3177 Unspecified EDN2 +OMIM:131241 skos:exactMatch HGNC_symbol:EDN2 Unspecified EDN2 +OMIM:118301 skos:exactMatch UMLS:C1861668 Unspecified charcot-marie-tooth disease with ptosis and parkinsonism +OMIM:118300 skos:exactMatch UMLS:C3495591 Unspecified charcot-marie-tooth disease and deafness +OMIM:131244 skos:exactMatch UMLS:C1414263 Unspecified EDNRB +OMIM:131244 skos:exactMatch HGNC_symbol:EDNRB Unspecified EDNRB +OMIM:131244 skos:exactMatch HGNC:3180 Unspecified EDNRB +OMIM:155200 skos:exactMatch UMLS:C1835085 Unspecified mediosternal depigmentation line +OMIM:108990 skos:exactMatch UMLS:C1417160 Unspecified attached cell antigen 28.3.7 +OMIM:108985 skos:exactMatch UMLS:C1862382 Unspecified sveinsson chorioretinal atrophy +OMIM:108985 skos:exactMatch ORPHA:86813 Unspecified sveinsson chorioretinal atrophy +OMIM:108960 skos:exactMatch UMLS:C1417810 Unspecified NPR1 +OMIM:108960 skos:exactMatch HGNC_symbol:NPR1 Unspecified NPR1 +OMIM:108960 skos:exactMatch HGNC:7943 Unspecified NPR1 +OMIM:167210 skos:exactMatch UMLS:C1721007 Unspecified pachyonychia congenita 2 +OMIM:182810 skos:exactMatch HGNC_symbol:SPTAN1 Unspecified SPTAN1 +OMIM:182810 skos:exactMatch HGNC:11273 Unspecified SPTAN1 +OMIM:182810 skos:exactMatch UMLS:C3150731 Unspecified SPTAN1 +OMIM:182810 skos:exactMatch UMLS:C1420386 Unspecified SPTAN1 +OMIM:182810 skos:exactMatch UMLS:C2986382 Unspecified SPTAN1 +OMIM:108950 skos:exactMatch UMLS:C1862387 Unspecified atrial tachyarrhythmia with short pr interval +OMIM:182815 skos:exactMatch UMLS:C1866851 Unspecified spastic paraplegia with neuropathy and poikiloderma +OMIM:167200 skos:exactMatch ORPHA:2309 Unspecified pachyonychia congenita 1 +OMIM:167200 skos:exactMatch UMLS:C1706595 Unspecified pachyonychia congenita 1 +OMIM:182820 skos:exactMatch UMLS:C1866850 Unspecified spastic paraplegia with precocious puberty +OMIM:108962 skos:exactMatch UMLS:C1417811 Unspecified NPR3 +OMIM:108962 skos:exactMatch HGNC_symbol:NPR3 Unspecified NPR3 +OMIM:108962 skos:exactMatch HGNC:7945 Unspecified NPR3 +OMIM:106300 skos:exactMatch UMLS:C1862852 Unspecified spondyloarthropathy, susceptibility to, 1 +OMIM:108961 skos:exactMatch HGNC_symbol:NPR2 Unspecified NPR2 +OMIM:108961 skos:exactMatch UMLS:C1334895 Unspecified NPR2 +OMIM:108961 skos:exactMatch HGNC:7944 Unspecified NPR2 +OMIM:300670 skos:exactMatch UMLS:C1422570 Unspecified SPANXD +OMIM:300670 skos:exactMatch HGNC_symbol:SPANXD Unspecified SPANXD +OMIM:300670 skos:exactMatch HGNC:14332 Unspecified SPANXD +OMIM:604412 skos:exactMatch HGNC_symbol:TCL6 Unspecified TCL6 +OMIM:604412 skos:exactMatch HGNC:13463 Unspecified TCL6 +OMIM:604412 skos:exactMatch UMLS:C1422004 Unspecified TCL6 +OMIM:182870 skos:exactMatch HGNC_symbol:SPTB Unspecified SPTB +OMIM:182870 skos:exactMatch HGNC:11274 Unspecified SPTB +OMIM:182870 skos:exactMatch UMLS:C1420387 Unspecified SPTB +OMIM:300672 skos:exactMatch UMLS:C4750718 Unspecified developmental and epileptic encephalopathy 2 +OMIM:300672 skos:exactMatch ORPHA:505652 Unspecified developmental and epileptic encephalopathy 2 +OMIM:300672 skos:exactMatch ORPHA:3451 Unspecified developmental and epileptic encephalopathy 2 +OMIM:300672 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 2 +OMIM:300672 skos:exactMatch ORPHA:3095 Unspecified developmental and epileptic encephalopathy 2 +OMIM:604415 skos:exactMatch HGNC_symbol:STEAP1 Unspecified STEAP1 +OMIM:604415 skos:exactMatch UMLS:C1539881 Unspecified STEAP1 +OMIM:604415 skos:exactMatch HGNC:11378 Unspecified STEAP1 +OMIM:604414 skos:exactMatch UMLS:C1418744 Unspecified POLR2F +OMIM:604414 skos:exactMatch HGNC:9193 Unspecified POLR2F +OMIM:604414 skos:exactMatch HGNC_symbol:POLR2F Unspecified POLR2F +OMIM:300671 skos:exactMatch UMLS:C1425504 Unspecified +OMIM:604417 skos:exactMatch UMLS:C1706652 Unspecified AFF4 +OMIM:604417 skos:exactMatch HGNC:17869 Unspecified AFF4 +OMIM:604417 skos:exactMatch HGNC_symbol:AFF4 Unspecified AFF4 +OMIM:300674 skos:exactMatch HGNC_symbol:MOSPD1 Unspecified MOSPD1 +OMIM:300674 skos:exactMatch HGNC:25235 Unspecified MOSPD1 +OMIM:300674 skos:exactMatch UMLS:C1428457 Unspecified MOSPD1 +OMIM:300673 skos:exactMatch UMLS:C1968556 Unspecified encephalopathy, neonatal severe, due to mecp2 mutations +OMIM:604416 skos:exactMatch UMLS:C1858361 Unspecified pyogenic sterile arthritis, pyoderma gangrenosum, and acne +OMIM:180210 skos:exactMatch ORPHA:791 Unspecified retinopathy, pericentral pigmentary, dominant +OMIM:180210 skos:exactMatch UMLS:C1867261 Unspecified retinopathy, pericentral pigmentary, dominant +OMIM:604419 skos:exactMatch UMLS:C1418738 Unspecified POLQ +OMIM:604419 skos:exactMatch HGNC_symbol:POLQ Unspecified POLQ +OMIM:604419 skos:exactMatch HGNC:9186 Unspecified POLQ +OMIM:155255 skos:exactMatch UMLS:C1334970 Unspecified medulloblastoma +OMIM:155255 skos:exactMatch UMLS:C0025149 Unspecified medulloblastoma +OMIM:155255 skos:exactMatch ORPHA:616 Unspecified medulloblastoma +OMIM:155255 skos:exactMatch ORPHA:251863 Unspecified medulloblastoma +OMIM:155255 skos:exactMatch ORPHA:251867 Unspecified medulloblastoma +OMIM:155255 skos:exactMatch ORPHA:251858 Unspecified medulloblastoma +OMIM:300676 skos:exactMatch UMLS:C1970822 Unspecified intellectual developmental disorder, x-linked, syndromic 14 +OMIM:300675 skos:exactMatch HGNC_symbol:PNMA3 Unspecified PNMA3 +OMIM:300675 skos:exactMatch UMLS:C1425751 Unspecified PNMA3 +OMIM:300675 skos:exactMatch HGNC:18742 Unspecified PNMA3 +OMIM:604418 skos:exactMatch HGNC:4288 Unspecified GJB6 +OMIM:604418 skos:exactMatch HGNC_symbol:GJB6 Unspecified GJB6 +OMIM:604418 skos:exactMatch UMLS:C1415081 Unspecified GJB6 +OMIM:300678 skos:exactMatch UMLS:C1426960 Unspecified DUSP21 +OMIM:300678 skos:exactMatch HGNC_symbol:DUSP21 Unspecified DUSP21 +OMIM:300678 skos:exactMatch HGNC:20476 Unspecified DUSP21 +OMIM:300677 skos:exactMatch HGNC_symbol:TXLNG Unspecified TXLNG +OMIM:300677 skos:exactMatch UMLS:C1425616 Unspecified TXLNG +OMIM:300677 skos:exactMatch HGNC:18578 Unspecified TXLNG +OMIM:300679 skos:exactMatch UMLS:C0795887 Unspecified chromosome xp21 deletion syndrome +OMIM:616400 skos:exactMatch UMLS:C4225339 Unspecified palmoplantar keratoderma, nonepidermolytic, focal 2 +OMIM:616401 skos:exactMatch UMLS:C1824626 Unspecified SPDL1 +OMIM:616401 skos:exactMatch HGNC:26010 Unspecified SPDL1 +OMIM:616401 skos:exactMatch HGNC_symbol:SPDL1 Unspecified SPDL1 +OMIM:182875 skos:exactMatch UMLS:C1866802 Unspecified speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease +OMIM:182878 skos:exactMatch UMLS:C1417935 Unspecified ODF1 +OMIM:182878 skos:exactMatch HGNC:8113 Unspecified ODF1 +OMIM:182878 skos:exactMatch HGNC_symbol:ODF1 Unspecified ODF1 +OMIM:604420 skos:exactMatch UMLS:C1415537 Unspecified HHEX +OMIM:604420 skos:exactMatch HGNC_symbol:HHEX Unspecified HHEX +OMIM:604420 skos:exactMatch HGNC:4901 Unspecified HHEX +OMIM:131290 skos:exactMatch HGNC:3342 Unspecified EN1 +OMIM:131290 skos:exactMatch HGNC_symbol:EN1 Unspecified EN1 +OMIM:131290 skos:exactMatch UMLS:C1414395 Unspecified EN1 +OMIM:604422 skos:exactMatch HGNC:9156 Unspecified PNLIPRP1 +OMIM:604422 skos:exactMatch HGNC_symbol:PNLIPRP1 Unspecified PNLIPRP1 +OMIM:604422 skos:exactMatch UMLS:C1418709 Unspecified PNLIPRP1 +OMIM:604421 skos:exactMatch HGNC:8770 Unspecified PDCL +OMIM:604421 skos:exactMatch HGNC_symbol:PDCL Unspecified PDCL +OMIM:604421 skos:exactMatch UMLS:C1418411 Unspecified PDCL +OMIM:300681 skos:exactMatch HGNC_symbol:DOCK11 Unspecified DOCK11 +OMIM:300681 skos:exactMatch HGNC:23483 Unspecified DOCK11 +OMIM:300681 skos:exactMatch UMLS:C1428097 Unspecified DOCK11 +OMIM:604402 skos:exactMatch HGNC_symbol:ST3GAL5 Unspecified ST3GAL5 +OMIM:604402 skos:exactMatch HGNC:10872 Unspecified ST3GAL5 +OMIM:604402 skos:exactMatch UMLS:C1836824 Unspecified ST3GAL5 +OMIM:604402 skos:exactMatch UMLS:C1539863 Unspecified ST3GAL5 +OMIM:300680 skos:exactMatch UMLS:C1538683 Unspecified PNCK +OMIM:300680 skos:exactMatch HGNC_symbol:PNCK Unspecified PNCK +OMIM:300680 skos:exactMatch HGNC:13415 Unspecified PNCK +OMIM:604401 skos:exactMatch UMLS:C1858378 Unspecified arrhythmogenic right ventricular dysplasia, familial, 6 +OMIM:300683 skos:exactMatch UMLS:C3888193 Unspecified SEPT6 +OMIM:300683 skos:exactMatch HGNC_symbol:SEPTIN6 Unspecified SEPT6 +OMIM:300683 skos:exactMatch UMLS:C1423771 Unspecified SEPT6 +OMIM:300683 skos:exactMatch HGNC:15848 Unspecified SEPT6 +OMIM:604404 skos:exactMatch HGNC:4454 Unspecified GPC6 +OMIM:604404 skos:exactMatch UMLS:C1415198 Unspecified GPC6 +OMIM:604404 skos:exactMatch HGNC_symbol:GPC6 Unspecified GPC6 +OMIM:155240 skos:exactMatch UMLS:C1833921 Unspecified thyroid carcinoma, familial medullary +OMIM:604403 skos:exactMatch ORPHA:36387 Unspecified generalized epilepsy with febrile seizures plus, iia 2 +OMIM:604403 skos:exactMatch UMLS:C2751756 Unspecified generalized epilepsy with febrile seizures plus, iia 2 +OMIM:604403 skos:exactMatch UMLS:C1858673 Unspecified generalized epilepsy with febrile seizures plus, iia 2 +OMIM:182880 skos:exactMatch HGNC:9447 Unspecified PRM1 +OMIM:182880 skos:exactMatch UMLS:C1418939 Unspecified PRM1 +OMIM:182880 skos:exactMatch HGNC_symbol:PRM1 Unspecified PRM1 +OMIM:300682 skos:exactMatch UMLS:C1537908 Unspecified MIR424 +OMIM:300682 skos:exactMatch HGNC_symbol:MIR424 Unspecified MIR424 +OMIM:300682 skos:exactMatch HGNC:31881 Unspecified MIR424 +OMIM:604406 skos:exactMatch HGNC:4381 Unspecified GNA13 +OMIM:604406 skos:exactMatch UMLS:C1415139 Unspecified GNA13 +OMIM:604406 skos:exactMatch HGNC_symbol:GNA13 Unspecified GNA13 +OMIM:300685 skos:exactMatch HGNC:30798 Unspecified PRRG3 +OMIM:300685 skos:exactMatch UMLS:C1538725 Unspecified PRRG3 +OMIM:300685 skos:exactMatch HGNC_symbol:PRRG3 Unspecified PRRG3 +OMIM:180220 skos:exactMatch HGNC_symbol:RARB Unspecified RARB +OMIM:180220 skos:exactMatch HGNC:9865 Unspecified RARB +OMIM:180220 skos:exactMatch UMLS:C1335591 Unspecified RARB +OMIM:300684 skos:exactMatch UMLS:C1538122 Unspecified XKRX +OMIM:300684 skos:exactMatch HGNC_symbol:XKRX Unspecified XKRX +OMIM:300684 skos:exactMatch HGNC:29845 Unspecified XKRX +OMIM:182882 skos:exactMatch UMLS:C1866801 Unspecified sperm protamine p4 +OMIM:604405 skos:exactMatch UMLS:C1420061 Unspecified SIGLEC6 +OMIM:604405 skos:exactMatch HGNC:10875 Unspecified SIGLEC6 +OMIM:604405 skos:exactMatch HGNC_symbol:SIGLEC6 Unspecified SIGLEC6 +OMIM:604405 skos:exactMatch UMLS:C1858373 Unspecified SIGLEC6 +OMIM:300687 skos:exactMatch UMLS:C2239388 Unspecified ERCC6L +OMIM:300687 skos:exactMatch HGNC_symbol:ERCC6L Unspecified ERCC6L +OMIM:300687 skos:exactMatch HGNC:20794 Unspecified ERCC6L +OMIM:604407 skos:exactMatch UMLS:C1416827 Unspecified LETM1 +OMIM:604407 skos:exactMatch HGNC_symbol:LETM1 Unspecified LETM1 +OMIM:604407 skos:exactMatch HGNC:6556 Unspecified LETM1 +OMIM:300686 skos:exactMatch UMLS:C1826026 Unspecified MIR448 +OMIM:300686 skos:exactMatch HGNC_symbol:MIR448 Unspecified MIR448 +OMIM:300686 skos:exactMatch HGNC:26069 Unspecified MIR448 +OMIM:300689 skos:exactMatch HGNC_symbol:STARD8 Unspecified STARD8 +OMIM:300689 skos:exactMatch HGNC:19161 Unspecified STARD8 +OMIM:300689 skos:exactMatch UMLS:C1426052 Unspecified STARD8 +OMIM:604409 skos:exactMatch HGNC:4370 Unspecified GMEB1 +OMIM:604409 skos:exactMatch UMLS:C1415130 Unspecified GMEB1 +OMIM:604409 skos:exactMatch HGNC_symbol:GMEB1 Unspecified GMEB1 +OMIM:300688 skos:exactMatch HGNC:25657 Unspecified BCORL1 +OMIM:300688 skos:exactMatch UMLS:C1538320 Unspecified BCORL1 +OMIM:300688 skos:exactMatch HGNC_symbol:BCORL1 Unspecified BCORL1 +OMIM:167220 skos:exactMatch UMLS:C1833676 Unspecified pacman dysplasia +OMIM:310000 skos:exactMatch UMLS:C1839670 Unspecified muscular dystrophy, mabry iia +OMIM:121900 skos:exactMatch ORPHA:98962 Unspecified corneal dystrophy, groenouw iia 1 +OMIM:121900 skos:exactMatch UMLS:C1641846 Unspecified corneal dystrophy, groenouw iia 1 +OMIM:192200 skos:exactMatch UMLS:C0042345 Unspecified varicose veins +OMIM:182889 skos:exactMatch UMLS:C1421866 Unspecified ZP3 +OMIM:182889 skos:exactMatch HGNC:13189 Unspecified ZP3 +OMIM:182889 skos:exactMatch HGNC_symbol:ZP3 Unspecified ZP3 +OMIM:179200 skos:exactMatch UMLS:C1867398 Unspecified radial heads, posterior dislocation of +OMIM:182888 skos:exactMatch UMLS:C1421865 Unspecified ZP2 +OMIM:182888 skos:exactMatch HGNC:13188 Unspecified ZP2 +OMIM:182888 skos:exactMatch HGNC_symbol:ZP2 Unspecified ZP2 +OMIM:604411 skos:exactMatch UMLS:C1416432 Unspecified INCENP +OMIM:604411 skos:exactMatch HGNC_symbol:INCENP Unspecified INCENP +OMIM:604411 skos:exactMatch HGNC:6058 Unspecified INCENP +OMIM:300690 skos:exactMatch HGNC:1036 Unspecified BEX1 +OMIM:300690 skos:exactMatch HGNC_symbol:BEX1 Unspecified BEX1 +OMIM:300690 skos:exactMatch UMLS:C1412787 Unspecified BEX1 +OMIM:604410 skos:exactMatch HGNC:10876 Unspecified SIGLEC7 +OMIM:604410 skos:exactMatch HGNC_symbol:SIGLEC7 Unspecified SIGLEC7 +OMIM:604410 skos:exactMatch UMLS:C1420062 Unspecified SIGLEC7 +OMIM:300650 skos:exactMatch UMLS:C1845069 Unspecified albinism, ocular, with late-onset sensorineural deafness +OMIM:300650 skos:exactMatch ORPHA:1000 Unspecified albinism, ocular, with late-onset sensorineural deafness +OMIM:300652 skos:exactMatch UMLS:C4721404 Unspecified angioma serpiginosum, X-linked +OMIM:300651 skos:exactMatch HGNC_symbol:PORCN Unspecified PORCN +OMIM:300651 skos:exactMatch UMLS:C1538703 Unspecified PORCN +OMIM:300651 skos:exactMatch HGNC:17652 Unspecified PORCN +OMIM:300654 skos:exactMatch HGNC:26440 Unspecified FAAH2 +OMIM:300654 skos:exactMatch HGNC_symbol:FAAH2 Unspecified FAAH2 +OMIM:300654 skos:exactMatch UMLS:C1825098 Unspecified FAAH2 +OMIM:300653 skos:exactMatch UMLS:C1970848 Unspecified phosphoglycerate kinase 1 deficiency +OMIM:300656 skos:exactMatch HGNC:28334 Unspecified UPRT +OMIM:300656 skos:exactMatch UMLS:C1823601 Unspecified UPRT +OMIM:300656 skos:exactMatch HGNC_symbol:UPRT Unspecified UPRT +OMIM:300655 skos:exactMatch HGNC:22931 Unspecified KLHL13 +OMIM:300655 skos:exactMatch UMLS:C1427788 Unspecified KLHL13 +OMIM:300655 skos:exactMatch HGNC_symbol:KLHL13 Unspecified KLHL13 +OMIM:300658 skos:exactMatch HGNC_symbol:NDP Unspecified NDP +OMIM:300658 skos:exactMatch HGNC:7678 Unspecified NDP +OMIM:300658 skos:exactMatch UMLS:C1417616 Unspecified NDP +OMIM:300657 skos:exactMatch HGNC_symbol:CTAG1A Unspecified CTAG1A +OMIM:300657 skos:exactMatch UMLS:C1539144 Unspecified CTAG1A +OMIM:300657 skos:exactMatch HGNC:24198 Unspecified CTAG1A +OMIM:300659 skos:exactMatch UMLS:C1970841 Unspecified intellectual developmental disorder, X-linked 93 +OMIM:167250 skos:exactMatch UMLS:C4085252 Unspecified paget disease of bone 3 +OMIM:275000 skos:exactMatch UMLS:C1848795 Unspecified graves disease, susceptibility to, 1 +OMIM:604400 skos:exactMatch UMLS:C1858379 Unspecified arrhythmogenic right ventricular dysplasia, familial, 5 +OMIM:300661 skos:exactMatch UMLS:C1970827 Unspecified phosphoribosylpyrophosphate synthetase superactivity +OMIM:300663 skos:exactMatch HGNC_symbol:ATG4A Unspecified ATG4A +OMIM:300663 skos:exactMatch UMLS:C1825494 Unspecified ATG4A +OMIM:300663 skos:exactMatch HGNC:16489 Unspecified ATG4A +OMIM:182860 skos:exactMatch UMLS:C1420385 Unspecified SPTA1 +OMIM:182860 skos:exactMatch HGNC_symbol:SPTA1 Unspecified SPTA1 +OMIM:182860 skos:exactMatch UMLS:C1851741 Unspecified SPTA1 +OMIM:182860 skos:exactMatch UMLS:C0520739 Unspecified SPTA1 +OMIM:182860 skos:exactMatch UMLS:C4016379 Unspecified SPTA1 +OMIM:182860 skos:exactMatch UMLS:C4310961 Unspecified SPTA1 +OMIM:182860 skos:exactMatch UMLS:C4310960 Unspecified SPTA1 +OMIM:182860 skos:exactMatch HGNC:11272 Unspecified SPTA1 +OMIM:300662 skos:exactMatch HGNC:32599 Unspecified SNORA11 +OMIM:300662 skos:exactMatch UMLS:C1822821 Unspecified SNORA11 +OMIM:300662 skos:exactMatch HGNC_symbol:SNORA11 Unspecified SNORA11 +OMIM:180200 skos:exactMatch UMLS:C0035335 Unspecified retinoblastoma +OMIM:300665 skos:exactMatch HGNC_symbol:SPANXN2 Unspecified SPANXN2 +OMIM:300665 skos:exactMatch HGNC:33175 Unspecified SPANXN2 +OMIM:300665 skos:exactMatch UMLS:C1823085 Unspecified SPANXN2 +OMIM:180201 skos:exactMatch HGNC:9885 Unspecified ARID4A +OMIM:180201 skos:exactMatch HGNC_symbol:ARID4A Unspecified ARID4A +OMIM:180201 skos:exactMatch UMLS:C1419287 Unspecified ARID4A +OMIM:300664 skos:exactMatch HGNC_symbol:SPANXN1 Unspecified SPANXN1 +OMIM:300664 skos:exactMatch HGNC:33174 Unspecified SPANXN1 +OMIM:300664 skos:exactMatch UMLS:C1823084 Unspecified SPANXN1 +OMIM:300667 skos:exactMatch HGNC_symbol:SPANXN4 Unspecified SPANXN4 +OMIM:300667 skos:exactMatch HGNC:33177 Unspecified SPANXN4 +OMIM:300667 skos:exactMatch UMLS:C1823087 Unspecified SPANXN4 +OMIM:300666 skos:exactMatch HGNC_symbol:SPANXN3 Unspecified SPANXN3 +OMIM:300666 skos:exactMatch HGNC:33176 Unspecified SPANXN3 +OMIM:300666 skos:exactMatch UMLS:C1823086 Unspecified SPANXN3 +OMIM:300669 skos:exactMatch HGNC_symbol:SPANXB1 Unspecified SPANXB1 +OMIM:300669 skos:exactMatch HGNC:14329 Unspecified SPANXB1 +OMIM:300669 skos:exactMatch UMLS:C1422567 Unspecified SPANXB1 +OMIM:300668 skos:exactMatch UMLS:C1823088 Unspecified SPANXN5 +OMIM:300668 skos:exactMatch HGNC_symbol:SPANXN5 Unspecified SPANXN5 +OMIM:300668 skos:exactMatch HGNC:33178 Unspecified SPANXN5 +OMIM:180202 skos:exactMatch HGNC_symbol:KDM5A Unspecified KDM5A +OMIM:180202 skos:exactMatch HGNC:9886 Unspecified KDM5A +OMIM:180202 skos:exactMatch UMLS:C1419288 Unspecified KDM5A +OMIM:180203 skos:exactMatch HGNC_symbol:RBL2 Unspecified RBL2 +OMIM:180203 skos:exactMatch HGNC:9894 Unspecified RBL2 +OMIM:180203 skos:exactMatch UMLS:C1335602 Unspecified RBL2 +OMIM:309000 skos:exactMatch UMLS:C2713392 Unspecified lowe oculocerebrorenal syndrome +OMIM:309000 skos:exactMatch UMLS:C0028860 Unspecified lowe oculocerebrorenal syndrome +OMIM:309000 skos:exactMatch ORPHA:534 Unspecified lowe oculocerebrorenal syndrome +OMIM:604457 skos:exactMatch UMLS:C1415891 Unspecified SP110 +OMIM:604457 skos:exactMatch UMLS:C1858343 Unspecified SP110 +OMIM:604457 skos:exactMatch HGNC:5401 Unspecified SP110 +OMIM:604457 skos:exactMatch HGNC_symbol:SP110 Unspecified SP110 +OMIM:604456 skos:exactMatch UMLS:C1334078 Unspecified IFITM1 +OMIM:604456 skos:exactMatch HGNC_symbol:IFITM1 Unspecified IFITM1 +OMIM:604456 skos:exactMatch HGNC:5412 Unspecified IFITM1 +OMIM:180250 skos:exactMatch UMLS:C1419320 Unspecified RBP4 +OMIM:180250 skos:exactMatch HGNC_symbol:RBP4 Unspecified RBP4 +OMIM:180250 skos:exactMatch HGNC:9922 Unspecified RBP4 +OMIM:604459 skos:exactMatch UMLS:C1334136 Unspecified IRAK3 +OMIM:604459 skos:exactMatch HGNC_symbol:IRAK3 Unspecified IRAK3 +OMIM:604459 skos:exactMatch UMLS:C4016888 Unspecified IRAK3 +OMIM:604459 skos:exactMatch HGNC:17020 Unspecified IRAK3 +OMIM:263000 skos:exactMatch UMLS:C0238378 Unspecified interstitial pneumonitis, desquamative, familial +OMIM:616440 skos:exactMatch HGNC_symbol:SLC32A1 Unspecified SLC32A1 +OMIM:616440 skos:exactMatch HGNC:11018 Unspecified SLC32A1 +OMIM:616440 skos:exactMatch UMLS:C1420184 Unspecified SLC32A1 +OMIM:616441 skos:exactMatch UMLS:C1826526 Unspecified OVOL2 +OMIM:616441 skos:exactMatch HGNC_symbol:OVOL2 Unspecified OVOL2 +OMIM:616441 skos:exactMatch HGNC:15804 Unspecified OVOL2 +OMIM:616442 skos:exactMatch UMLS:C3471351 Unspecified OVOL3 +OMIM:616442 skos:exactMatch HGNC_symbol:OVOL3 Unspecified OVOL3 +OMIM:616442 skos:exactMatch HGNC:14186 Unspecified OVOL3 +OMIM:616443 skos:exactMatch UMLS:C1823961 Unspecified ZMYM5 +OMIM:616443 skos:exactMatch HGNC:13029 Unspecified ZMYM5 +OMIM:616443 skos:exactMatch HGNC_symbol:ZMYM5 Unspecified ZMYM5 +OMIM:616444 skos:exactMatch HGNC_symbol:RBM19 Unspecified RBM19 +OMIM:616444 skos:exactMatch HGNC:29098 Unspecified RBM19 +OMIM:616444 skos:exactMatch UMLS:C1428788 Unspecified RBM19 +OMIM:616445 skos:exactMatch UMLS:C4225324 Unspecified candidiasis, familial, 9 +OMIM:616435 skos:exactMatch UMLS:C4084840 Unspecified fanconi anemia, complementation group t +OMIM:616436 skos:exactMatch UMLS:C4225327 Unspecified epilepsy, familial temporal lobe, 7 +OMIM:309050 skos:exactMatch UMLS:C3887995 Unspecified lutheran suppressor, X-linked +OMIM:616437 skos:exactMatch UMLS:C4225326 Unspecified frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +OMIM:616438 skos:exactMatch UMLS:C1823459 Unspecified TNFAIP8L3 +OMIM:616438 skos:exactMatch HGNC:20620 Unspecified TNFAIP8L3 +OMIM:616438 skos:exactMatch HGNC_symbol:TNFAIP8L3 Unspecified TNFAIP8L3 +OMIM:616439 skos:exactMatch UMLS:C4225325 Unspecified frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +OMIM:604460 skos:exactMatch HGNC_symbol:FAF1 Unspecified FAF1 +OMIM:604460 skos:exactMatch HGNC:3578 Unspecified FAF1 +OMIM:604460 skos:exactMatch UMLS:C1414524 Unspecified FAF1 +OMIM:604462 skos:exactMatch UMLS:C1419949 Unspecified SEMA4C +OMIM:604462 skos:exactMatch HGNC:10731 Unspecified SEMA4C +OMIM:604462 skos:exactMatch HGNC_symbol:SEMA4C Unspecified SEMA4C +OMIM:604461 skos:exactMatch HGNC:5168 Unspecified HPV6AI1 +OMIM:604461 skos:exactMatch HGNC_symbol:HPV6AI1 Unspecified HPV6AI1 +OMIM:604461 skos:exactMatch UMLS:C1415710 Unspecified HPV6AI1 +OMIM:604464 skos:exactMatch HGNC:6184 Unspecified ITSN2 +OMIM:604464 skos:exactMatch HGNC_symbol:ITSN2 Unspecified ITSN2 +OMIM:604464 skos:exactMatch UMLS:C1416521 Unspecified ITSN2 +OMIM:604463 skos:exactMatch UMLS:C1424685 Unspecified CD160 +OMIM:604463 skos:exactMatch HGNC_symbol:CD160 Unspecified CD160 +OMIM:604463 skos:exactMatch HGNC:17013 Unspecified CD160 +OMIM:604466 skos:exactMatch HGNC_symbol:METTL1 Unspecified METTL1 +OMIM:604466 skos:exactMatch UMLS:C1417124 Unspecified METTL1 +OMIM:604466 skos:exactMatch HGNC:7030 Unspecified METTL1 +OMIM:604465 skos:exactMatch UMLS:C1420026 Unspecified SH3GL2 +OMIM:604465 skos:exactMatch HGNC:10831 Unspecified SH3GL2 +OMIM:604465 skos:exactMatch HGNC_symbol:SH3GL2 Unspecified SH3GL2 +OMIM:180260 skos:exactMatch UMLS:C1419317 Unspecified RBP1 +OMIM:180260 skos:exactMatch HGNC_symbol:RBP1 Unspecified RBP1 +OMIM:180260 skos:exactMatch HGNC:9919 Unspecified RBP1 +OMIM:604446 skos:exactMatch HGNC:9590 Unspecified PTER +OMIM:604446 skos:exactMatch UMLS:C1419058 Unspecified PTER +OMIM:604446 skos:exactMatch HGNC_symbol:PTER Unspecified PTER +OMIM:604445 skos:exactMatch HGNC_symbol:SERPINB13 Unspecified PI13 +OMIM:604445 skos:exactMatch HGNC:8944 Unspecified PI13 +OMIM:604445 skos:exactMatch UMLS:C1418547 Unspecified PI13 +OMIM:179250 skos:exactMatch UMLS:C1867397 Unspecified radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema +OMIM:604448 skos:exactMatch HGNC:9506 Unspecified CYTIP +OMIM:604448 skos:exactMatch HGNC_symbol:CYTIP Unspecified CYTIP +OMIM:604448 skos:exactMatch UMLS:C1418983 Unspecified CYTIP +OMIM:604447 skos:exactMatch HGNC:4401 Unspecified GNB5 +OMIM:604447 skos:exactMatch UMLS:C1415152 Unspecified GNB5 +OMIM:604447 skos:exactMatch HGNC_symbol:GNB5 Unspecified GNB5 +OMIM:604449 skos:exactMatch HGNC:9556 Unspecified PSMD11 +OMIM:604449 skos:exactMatch HGNC_symbol:PSMD11 Unspecified PSMD11 +OMIM:604449 skos:exactMatch UMLS:C1419029 Unspecified PSMD11 +OMIM:616430 skos:exactMatch UMLS:C4225329 Unspecified combined oxidative phosphorylation deficiency 25 +OMIM:616431 skos:exactMatch UMLS:C2829539 Unspecified GPAT2 +OMIM:616431 skos:exactMatch HGNC_symbol:GPAT2 Unspecified GPAT2 +OMIM:616431 skos:exactMatch HGNC:27168 Unspecified GPAT2 +OMIM:616432 skos:exactMatch HGNC_symbol:ARHGEF18 Unspecified ARHGEF18 +OMIM:616432 skos:exactMatch UMLS:C1424737 Unspecified ARHGEF18 +OMIM:616432 skos:exactMatch HGNC:17090 Unspecified ARHGEF18 +OMIM:616433 skos:exactMatch UMLS:C4225328 Unspecified immunodeficiency 40 +OMIM:616434 skos:exactMatch HGNC:28977 Unspecified IST1 +OMIM:616434 skos:exactMatch UMLS:C3470516 Unspecified IST1 +OMIM:616434 skos:exactMatch HGNC_symbol:IST1 Unspecified IST1 +OMIM:616424 skos:exactMatch UMLS:C1822690 Unspecified SETD6 +OMIM:616424 skos:exactMatch HGNC:26116 Unspecified SETD6 +OMIM:616424 skos:exactMatch HGNC_symbol:SETD6 Unspecified SETD6 +OMIM:616425 skos:exactMatch UMLS:C4225331 Unspecified 46,xy sex reversal 10 +OMIM:616426 skos:exactMatch HGNC_symbol:CEP192 Unspecified CEP192 +OMIM:616426 skos:exactMatch UMLS:C1824723 Unspecified CEP192 +OMIM:616426 skos:exactMatch HGNC:25515 Unspecified CEP192 +OMIM:616427 skos:exactMatch HGNC:28285 Unspecified AKAIN1 +OMIM:616427 skos:exactMatch HGNC_symbol:AKAIN1 Unspecified AKAIN1 +OMIM:616427 skos:exactMatch UMLS:C3146783 Unspecified AKAIN1 +OMIM:616428 skos:exactMatch UMLS:C4225330 Unspecified microphthalmia, isolated, with coloboma 10 +OMIM:616429 skos:exactMatch UMLS:C1428702 Unspecified SUSD3 +OMIM:616429 skos:exactMatch HGNC:28391 Unspecified SUSD3 +OMIM:616429 skos:exactMatch HGNC_symbol:SUSD3 Unspecified SUSD3 +OMIM:309060 skos:exactMatch HGNC_symbol:LAMP2 Unspecified LAMP2 +OMIM:309060 skos:exactMatch UMLS:C1416790 Unspecified LAMP2 +OMIM:309060 skos:exactMatch HGNC:6501 Unspecified LAMP2 +OMIM:604451 skos:exactMatch UMLS:C1304297 Unspecified basal cell carcinoma, infundibulocystic +OMIM:604450 skos:exactMatch UMLS:C1419030 Unspecified PSMD12 +OMIM:604450 skos:exactMatch HGNC:9557 Unspecified PSMD12 +OMIM:604450 skos:exactMatch HGNC_symbol:PSMD12 Unspecified PSMD12 +OMIM:604453 skos:exactMatch HGNC_symbol:NR5A2 Unspecified NR5A2 +OMIM:604453 skos:exactMatch HGNC:7984 Unspecified NR5A2 +OMIM:604453 skos:exactMatch UMLS:C1417839 Unspecified NR5A2 +OMIM:604452 skos:exactMatch UMLS:C1419036 Unspecified PSMD5 +OMIM:604452 skos:exactMatch HGNC_symbol:PSMD5 Unspecified PSMD5 +OMIM:604452 skos:exactMatch HGNC:9563 Unspecified PSMD5 +OMIM:192240 skos:exactMatch HGNC:12680 Unspecified VEGFA +OMIM:192240 skos:exactMatch HGNC_symbol:VEGFA Unspecified VEGFA +OMIM:192240 skos:exactMatch UMLS:C1823619 Unspecified VEGFA +OMIM:604455 skos:exactMatch UMLS:C1419817 Unspecified SARDH +OMIM:604455 skos:exactMatch HGNC:10536 Unspecified SARDH +OMIM:604455 skos:exactMatch HGNC_symbol:SARDH Unspecified SARDH +OMIM:108900 skos:exactMatch UMLS:C3276096 Unspecified atrial septal defect 7 with or without atrioventricular conduction defects +OMIM:604454 skos:exactMatch UMLS:C0221054 Unspecified welander distal myopathy +OMIM:300692 skos:exactMatch UMLS:C1428491 Unspecified BEX4 +OMIM:300692 skos:exactMatch HGNC_symbol:BEX4 Unspecified BEX4 +OMIM:300692 skos:exactMatch HGNC:25475 Unspecified BEX4 +OMIM:182890 skos:exactMatch UMLS:C1418940 Unspecified PRM2 +OMIM:182890 skos:exactMatch HGNC_symbol:PRM2 Unspecified PRM2 +OMIM:182890 skos:exactMatch HGNC:9448 Unspecified PRM2 +OMIM:604434 skos:exactMatch HGNC:6359 Unspecified KLK11 +OMIM:604434 skos:exactMatch HGNC_symbol:KLK11 Unspecified KLK11 +OMIM:604434 skos:exactMatch UMLS:C1416671 Unspecified KLK11 +OMIM:300691 skos:exactMatch UMLS:C1429014 Unspecified BEX2 +OMIM:300691 skos:exactMatch HGNC_symbol:BEX2 Unspecified BEX2 +OMIM:300691 skos:exactMatch HGNC:30933 Unspecified BEX2 +OMIM:604437 skos:exactMatch UMLS:C1442750 Unspecified SLC38A3 +OMIM:604437 skos:exactMatch HGNC_symbol:SLC38A3 Unspecified SLC38A3 +OMIM:604437 skos:exactMatch HGNC:18044 Unspecified SLC38A3 +OMIM:179280 skos:exactMatch UMLS:C1867396 Unspecified radial-renal syndrome +OMIM:300694 skos:exactMatch HGNC_symbol:MIR223 Unspecified MIR223 +OMIM:300694 skos:exactMatch UMLS:C1537861 Unspecified MIR223 +OMIM:300694 skos:exactMatch HGNC:31603 Unspecified MIR223 +OMIM:180230 skos:exactMatch HGNC_symbol:CRABP1 Unspecified CRABP1 +OMIM:180230 skos:exactMatch UMLS:C1413697 Unspecified CRABP1 +OMIM:180230 skos:exactMatch HGNC:2338 Unspecified CRABP1 +OMIM:300693 skos:exactMatch UMLS:C2240210 Unspecified BEX5 +OMIM:300693 skos:exactMatch HGNC_symbol:BEX5 Unspecified BEX5 +OMIM:300693 skos:exactMatch HGNC:27990 Unspecified BEX5 +OMIM:604436 skos:exactMatch HGNC:9457 Unspecified PLPBP +OMIM:604436 skos:exactMatch HGNC_symbol:PLPBP Unspecified PLPBP +OMIM:604436 skos:exactMatch UMLS:C1418949 Unspecified PLPBP +OMIM:182891 skos:exactMatch HGNC_symbol:SRM Unspecified SRM +OMIM:182891 skos:exactMatch HGNC:11296 Unspecified SRM +OMIM:182891 skos:exactMatch UMLS:C1420404 Unspecified SRM +OMIM:180231 skos:exactMatch HGNC_symbol:CRABP2 Unspecified CRABP2 +OMIM:180231 skos:exactMatch UMLS:C1413698 Unspecified CRABP2 +OMIM:180231 skos:exactMatch HGNC:2339 Unspecified CRABP2 +OMIM:604439 skos:exactMatch UMLS:C1414900 Unspecified GAB1 +OMIM:604439 skos:exactMatch HGNC_symbol:GAB1 Unspecified GAB1 +OMIM:604439 skos:exactMatch HGNC:4066 Unspecified GAB1 +OMIM:300696 skos:exactMatch UMLS:C2749106 Unspecified myopathy, x-linked, with postural muscle atrophy +OMIM:300696 skos:exactMatch UMLS:C2678055 Unspecified myopathy, x-linked, with postural muscle atrophy +OMIM:604438 skos:exactMatch UMLS:C1416678 Unspecified KLK7 +OMIM:604438 skos:exactMatch HGNC_symbol:KLK7 Unspecified KLK7 +OMIM:604438 skos:exactMatch HGNC:6368 Unspecified KLK7 +OMIM:300695 skos:exactMatch UMLS:C2678061 Unspecified scapuloperoneal myopathy, X-linked dominant +OMIM:300698 skos:exactMatch UMLS:C1540021 Unspecified TMEM47 +OMIM:300698 skos:exactMatch HGNC:18515 Unspecified TMEM47 +OMIM:300698 skos:exactMatch HGNC_symbol:TMEM47 Unspecified TMEM47 +OMIM:300697 skos:exactMatch HGNC:30892 Unspecified HUWE1 +OMIM:300697 skos:exactMatch UMLS:C1537395 Unspecified HUWE1 +OMIM:300697 skos:exactMatch UMLS:C2678046 Unspecified HUWE1 +OMIM:300697 skos:exactMatch HGNC_symbol:HUWE1 Unspecified HUWE1 +OMIM:300699 skos:exactMatch UMLS:C2678051 Unspecified intellectual developmental disorder, x-linked, syndromic, wu iia +OMIM:300699 skos:exactMatch ORPHA:364028 Unspecified intellectual developmental disorder, x-linked, syndromic, wu iia +OMIM:616420 skos:exactMatch UMLS:C4225332 Unspecified leukodystrophy, hypomyelinating, 10 +OMIM:616421 skos:exactMatch UMLS:C4085238 Unspecified myoclonic-atonic epilepsy +OMIM:616422 skos:exactMatch HGNC_symbol:TEFM Unspecified TEFM +OMIM:616422 skos:exactMatch HGNC:26223 Unspecified TEFM +OMIM:616422 skos:exactMatch UMLS:C3469975 Unspecified TEFM +OMIM:616423 skos:exactMatch UMLS:C4540496 Unspecified DHX30 +OMIM:616423 skos:exactMatch HGNC:16716 Unspecified DHX30 +OMIM:616423 skos:exactMatch UMLS:C1424502 Unspecified DHX30 +OMIM:616423 skos:exactMatch HGNC_symbol:DHX30 Unspecified DHX30 +OMIM:616413 skos:exactMatch UMLS:C4225335 Unspecified basal ganglia calcification, idiopathic, 6 +OMIM:616414 skos:exactMatch UMLS:C4225334 Unspecified autoimmune interstitial lung, joint, and kidney disease +OMIM:616415 skos:exactMatch UMLS:C4225157 Unspecified familial adenomatous polyposis 3 +OMIM:616416 skos:exactMatch HGNC_symbol:ADGRL1 Unspecified ADGRL1 +OMIM:616416 skos:exactMatch UMLS:C1427215 Unspecified ADGRL1 +OMIM:616416 skos:exactMatch HGNC:20973 Unspecified ADGRL1 +OMIM:616417 skos:exactMatch HGNC_symbol:ADGRL3 Unspecified ADGRL3 +OMIM:616417 skos:exactMatch UMLS:C1427216 Unspecified ADGRL3 +OMIM:616417 skos:exactMatch HGNC:20974 Unspecified ADGRL3 +OMIM:616418 skos:exactMatch UMLS:C4225333 Unspecified hypomagnesemia, seizures, and mental retardation 1 +OMIM:616419 skos:exactMatch HGNC_symbol:ADGRL4 Unspecified ADGRL4 +OMIM:616419 skos:exactMatch UMLS:C1427152 Unspecified ADGRL4 +OMIM:616419 skos:exactMatch HGNC:20822 Unspecified ADGRL4 +OMIM:604440 skos:exactMatch HGNC:1976 Unspecified CIDEA +OMIM:604440 skos:exactMatch UMLS:C1413421 Unspecified CIDEA +OMIM:604440 skos:exactMatch HGNC_symbol:CIDEA Unspecified CIDEA +OMIM:604441 skos:exactMatch HGNC:1977 Unspecified CIDEB +OMIM:604441 skos:exactMatch UMLS:C1413422 Unspecified CIDEB +OMIM:604441 skos:exactMatch HGNC_symbol:CIDEB Unspecified CIDEB +OMIM:604444 skos:exactMatch UMLS:C1428947 Unspecified BAMBI +OMIM:604444 skos:exactMatch HGNC:30251 Unspecified BAMBI +OMIM:604444 skos:exactMatch HGNC_symbol:BAMBI Unspecified BAMBI +OMIM:604443 skos:exactMatch HGNC_symbol:ACSL6 Unspecified ACSL6 +OMIM:604443 skos:exactMatch UMLS:C1424328 Unspecified ACSL6 +OMIM:604443 skos:exactMatch UMLS:C3274862 Unspecified ACSL6 +OMIM:604443 skos:exactMatch HGNC:16496 Unspecified ACSL6 +OMIM:604424 skos:exactMatch HGNC:4915 Unspecified HIPK3 +OMIM:604424 skos:exactMatch UMLS:C1415548 Unspecified HIPK3 +OMIM:604424 skos:exactMatch HGNC_symbol:HIPK3 Unspecified HIPK3 +OMIM:604423 skos:exactMatch HGNC:9157 Unspecified PNLIPRP2 +OMIM:604423 skos:exactMatch HGNC_symbol:PNLIPRP2 Unspecified PNLIPRP2 +OMIM:604423 skos:exactMatch UMLS:C1418710 Unspecified PNLIPRP2 +OMIM:604426 skos:exactMatch HGNC:2645 Unspecified CYP4F2 +OMIM:604426 skos:exactMatch HGNC_symbol:CYP4F2 Unspecified CYP4F2 +OMIM:604426 skos:exactMatch UMLS:C1413888 Unspecified CYP4F2 +OMIM:180240 skos:exactMatch HGNC_symbol:RARA Unspecified RARA +OMIM:180240 skos:exactMatch HGNC:9864 Unspecified RARA +OMIM:180240 skos:exactMatch UMLS:C2986382 Unspecified RARA +OMIM:180240 skos:exactMatch UMLS:C1366536 Unspecified RARA +OMIM:179270 skos:exactMatch UMLS:C2931464 Unspecified radial ray hypoplasia with choanal atresia +OMIM:604425 skos:exactMatch UMLS:C1825812 Unspecified LHX8 +OMIM:604425 skos:exactMatch HGNC_symbol:LHX8 Unspecified LHX8 +OMIM:604425 skos:exactMatch HGNC:28838 Unspecified LHX8 +OMIM:604427 skos:exactMatch HGNC_symbol:SCN10A Unspecified SCN10A +OMIM:604427 skos:exactMatch HGNC:10582 Unspecified SCN10A +OMIM:604427 skos:exactMatch UMLS:C3809893 Unspecified SCN10A +OMIM:604427 skos:exactMatch UMLS:C1419853 Unspecified SCN10A +OMIM:192225 skos:exactMatch HGNC_symbol:VCAM1 Unspecified VCAM1 +OMIM:192225 skos:exactMatch HGNC:12663 Unspecified VCAM1 +OMIM:192225 skos:exactMatch UMLS:C1421435 Unspecified VCAM1 +OMIM:180245 skos:exactMatch UMLS:C1456392 Unspecified RXRA +OMIM:180245 skos:exactMatch HGNC:10477 Unspecified RXRA +OMIM:180245 skos:exactMatch HGNC_symbol:RXRA Unspecified RXRA +OMIM:604429 skos:exactMatch UMLS:C1418962 Unspecified PRRG2 +OMIM:604429 skos:exactMatch HGNC_symbol:PRRG2 Unspecified PRRG2 +OMIM:604429 skos:exactMatch HGNC:9470 Unspecified PRRG2 +OMIM:616410 skos:exactMatch UMLS:C4225158 Unspecified spinocerebellar ataxia 41 +OMIM:616411 skos:exactMatch UMLS:C4225336 Unspecified dystonia 27 +OMIM:616412 skos:exactMatch UMLS:C1427294 Unspecified TXNDC5 +OMIM:616412 skos:exactMatch HGNC_symbol:TXNDC5 Unspecified TXNDC5 +OMIM:616412 skos:exactMatch HGNC:21073 Unspecified TXNDC5 +OMIM:616402 skos:exactMatch ORPHA:2512 Unspecified microcephaly 14, primary, autosomal recessive +OMIM:616402 skos:exactMatch UMLS:C4225338 Unspecified microcephaly 14, primary, autosomal recessive +OMIM:616403 skos:exactMatch HGNC_symbol:TP53TG1 Unspecified TP53TG1 +OMIM:616403 skos:exactMatch HGNC:17026 Unspecified TP53TG1 +OMIM:616403 skos:exactMatch UMLS:C1424696 Unspecified TP53TG1 +OMIM:616404 skos:exactMatch HGNC:17264 Unspecified POLR1A +OMIM:616404 skos:exactMatch HGNC_symbol:POLR1A Unspecified POLR1A +OMIM:616404 skos:exactMatch UMLS:C1424858 Unspecified POLR1A +OMIM:616405 skos:exactMatch HGNC:19679 Unspecified AAK1 +OMIM:616405 skos:exactMatch UMLS:C1426329 Unspecified AAK1 +OMIM:616405 skos:exactMatch HGNC_symbol:AAK1 Unspecified AAK1 +OMIM:251000 skos:exactMatch ORPHA:79312 Unspecified methylmalonic aciduria due to methylmalonyl-coa mutase deficiency +OMIM:251000 skos:exactMatch ORPHA:27 Unspecified methylmalonic aciduria due to methylmalonyl-coa mutase deficiency +OMIM:251000 skos:exactMatch ORPHA:289916 Unspecified methylmalonic aciduria due to methylmalonyl-coa mutase deficiency +OMIM:251000 skos:exactMatch UMLS:C1855114 Unspecified methylmalonic aciduria due to methylmalonyl-coa mutase deficiency +OMIM:616406 skos:exactMatch UMLS:C1428949 Unspecified PYCR2 +OMIM:616406 skos:exactMatch HGNC:30262 Unspecified PYCR2 +OMIM:616406 skos:exactMatch HGNC_symbol:PYCR2 Unspecified PYCR2 +OMIM:616407 skos:exactMatch UMLS:C0155339 Unspecified brown syndrome +OMIM:616408 skos:exactMatch HGNC_symbol:PYCR3 Unspecified PYCRL +OMIM:616408 skos:exactMatch UMLS:C1428527 Unspecified PYCRL +OMIM:616408 skos:exactMatch HGNC:25846 Unspecified PYCRL +OMIM:616409 skos:exactMatch UMLS:C4225337 Unspecified developmental and epileptic encephalopathy 33 +OMIM:616409 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 33 +OMIM:180246 skos:exactMatch UMLS:C1456393 Unspecified RXRB +OMIM:180246 skos:exactMatch HGNC:10478 Unspecified RXRB +OMIM:180246 skos:exactMatch HGNC_symbol:RXRB Unspecified RXRB +OMIM:180247 skos:exactMatch UMLS:C1456394 Unspecified RXRG +OMIM:180247 skos:exactMatch HGNC:10479 Unspecified RXRG +OMIM:180247 skos:exactMatch HGNC_symbol:RXRG Unspecified RXRG +OMIM:604431 skos:exactMatch UMLS:C1858353 Unspecified polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive +OMIM:604430 skos:exactMatch HGNC:4410 Unspecified GNG7 +OMIM:604430 skos:exactMatch HGNC_symbol:GNG7 Unspecified GNG7 +OMIM:604430 skos:exactMatch UMLS:C1415160 Unspecified GNG7 +OMIM:604433 skos:exactMatch HGNC_symbol:KCNE3 Unspecified KCNE3 +OMIM:604433 skos:exactMatch HGNC:6243 Unspecified KCNE3 +OMIM:604433 skos:exactMatch UMLS:C1416566 Unspecified KCNE3 +OMIM:604432 skos:exactMatch UMLS:C1858351 Unspecified spinocerebellar ataxia 11 +OMIM:263200 skos:exactMatch UMLS:C0085548 Unspecified polycystic kidney disease 4 with or without polycystic liver disease +OMIM:263200 skos:exactMatch UMLS:C0009714 Unspecified polycystic kidney disease 4 with or without polycystic liver disease +OMIM:265850 skos:exactMatch UMLS:C1849524 Unspecified pygmy +OMIM:616590 skos:exactMatch HGNC:23836 Unspecified ZBTB5 +OMIM:616590 skos:exactMatch HGNC_symbol:ZBTB5 Unspecified ZBTB5 +OMIM:616590 skos:exactMatch UMLS:C1428287 Unspecified ZBTB5 +OMIM:616591 skos:exactMatch HGNC_symbol:ZBTB7C Unspecified ZBTB7C +OMIM:616591 skos:exactMatch HGNC:31700 Unspecified ZBTB7C +OMIM:616591 skos:exactMatch UMLS:C1538145 Unspecified ZBTB7C +OMIM:616592 skos:exactMatch UMLS:C4225270 Unspecified kosaki overgrowth syndrome +OMIM:616592 skos:exactMatch ORPHA:477831 Unspecified kosaki overgrowth syndrome +OMIM:616593 skos:exactMatch HGNC_symbol:C1QTNF12 Unspecified C1QTNF12 +OMIM:616593 skos:exactMatch UMLS:C1823201 Unspecified C1QTNF12 +OMIM:616593 skos:exactMatch HGNC:32308 Unspecified C1QTNF12 +OMIM:616594 skos:exactMatch HGNC_symbol:ASAP3 Unspecified ASAP3 +OMIM:616594 skos:exactMatch HGNC:14987 Unspecified ASAP3 +OMIM:616594 skos:exactMatch UMLS:C1423113 Unspecified ASAP3 +OMIM:616595 skos:exactMatch HGNC_symbol:ZBTB2 Unspecified ZBTB2 +OMIM:616595 skos:exactMatch UMLS:C1427175 Unspecified ZBTB2 +OMIM:616595 skos:exactMatch HGNC:20868 Unspecified ZBTB2 +OMIM:616596 skos:exactMatch HGNC:25564 Unspecified ARL8B +OMIM:616596 skos:exactMatch UMLS:C1824210 Unspecified ARL8B +OMIM:616596 skos:exactMatch HGNC_symbol:ARL8B Unspecified ARL8B +OMIM:616597 skos:exactMatch UMLS:C1824209 Unspecified ARL8A +OMIM:616597 skos:exactMatch HGNC_symbol:ARL8A Unspecified ARL8A +OMIM:616597 skos:exactMatch HGNC:25192 Unspecified ARL8A +OMIM:616598 skos:exactMatch HGNC_symbol:BORCS5 Unspecified BORCS5 +OMIM:616598 skos:exactMatch HGNC:17950 Unspecified BORCS5 +OMIM:616598 skos:exactMatch UMLS:C1425197 Unspecified BORCS5 +OMIM:616599 skos:exactMatch HGNC:25939 Unspecified BORCS6 +OMIM:616599 skos:exactMatch HGNC_symbol:BORCS6 Unspecified BORCS6 +OMIM:616599 skos:exactMatch UMLS:C1824451 Unspecified BORCS6 +OMIM:616589 skos:exactMatch UMLS:C4225271 Unspecified adams-oliver syndrome 6 +OMIM:251220 skos:exactMatch UMLS:C1855080 Unspecified microcephaly-cardiomyopathy +OMIM:604599 skos:exactMatch HGNC_symbol:EHMT2 Unspecified EHMT2 +OMIM:604599 skos:exactMatch UMLS:C1825038 Unspecified EHMT2 +OMIM:604599 skos:exactMatch HGNC:14129 Unspecified EHMT2 +OMIM:214290 skos:exactMatch UMLS:C0432160 Unspecified cervical vertebrae, agenesis of +OMIM:616580 skos:exactMatch UMLS:C4225274 Unspecified au-kline syndrome +OMIM:616581 skos:exactMatch UMLS:C3470535 Unspecified KDM4E +OMIM:616581 skos:exactMatch HGNC_symbol:KDM4E Unspecified KDM4E +OMIM:616581 skos:exactMatch HGNC:37098 Unspecified KDM4E +OMIM:616582 skos:exactMatch UMLS:C1825916 Unspecified LSR +OMIM:616582 skos:exactMatch HGNC:29572 Unspecified LSR +OMIM:616582 skos:exactMatch HGNC_symbol:LSR Unspecified LSR +OMIM:616583 skos:exactMatch UMLS:C4225273 Unspecified spondyloepiphyseal dysplasia, stanescu iia +OMIM:616584 skos:exactMatch UMLS:C2239406 Unspecified SPATA31A7 +OMIM:616584 skos:exactMatch HGNC_symbol:SPATA31A7 Unspecified SPATA31A7 +OMIM:616584 skos:exactMatch HGNC:32007 Unspecified SPATA31A7 +OMIM:616585 skos:exactMatch UMLS:C1826947 Unspecified RSPRY1 +OMIM:616585 skos:exactMatch HGNC_symbol:RSPRY1 Unspecified RSPRY1 +OMIM:616585 skos:exactMatch HGNC:29420 Unspecified RSPRY1 +OMIM:616586 skos:exactMatch UMLS:C4225272 Unspecified spastic paraplegia 9b, autosomal recessive +OMIM:616586 skos:exactMatch ORPHA:447760 Unspecified spastic paraplegia 9b, autosomal recessive +OMIM:616587 skos:exactMatch HGNC_symbol:FAM118B Unspecified FAM118B +OMIM:616587 skos:exactMatch UMLS:C1825252 Unspecified FAM118B +OMIM:616587 skos:exactMatch HGNC:26110 Unspecified FAM118B +OMIM:180390 skos:exactMatch HGNC_symbol:RRM2 Unspecified RRM2 +OMIM:180390 skos:exactMatch HGNC:10452 Unspecified RRM2 +OMIM:180390 skos:exactMatch UMLS:C1335649 Unspecified RRM2 +OMIM:616588 skos:exactMatch UMLS:C1539290 Unspecified DHFRL1 +OMIM:616588 skos:exactMatch HGNC_symbol:DHFR2 Unspecified DHFRL1 +OMIM:616588 skos:exactMatch HGNC:27309 Unspecified DHFRL1 +OMIM:616578 skos:exactMatch UMLS:C1426816 Unspecified ZBTB1 +OMIM:616578 skos:exactMatch HGNC_symbol:ZBTB1 Unspecified ZBTB1 +OMIM:616578 skos:exactMatch HGNC:20259 Unspecified ZBTB1 +OMIM:616579 skos:exactMatch UMLS:C4225275 Unspecified intellectual developmental disorder, autosomal dominant 40 +OMIM:604589 skos:exactMatch UMLS:C1412820 Unspecified BRD1 +OMIM:604589 skos:exactMatch HGNC_symbol:BRD1 Unspecified BRD1 +OMIM:604589 skos:exactMatch HGNC:1102 Unspecified BRD1 +OMIM:604588 skos:exactMatch HGNC:7744 Unspecified NEK1 +OMIM:604588 skos:exactMatch HGNC_symbol:NEK1 Unspecified NEK1 +OMIM:604588 skos:exactMatch UMLS:C1417671 Unspecified NEK1 +OMIM:616570 skos:exactMatch UMLS:C1851443 Unspecified cerebrooculofacioskeletal syndrome 3 +OMIM:616571 skos:exactMatch HGNC:30388 Unspecified CLEC18A +OMIM:616571 skos:exactMatch UMLS:C2681364 Unspecified CLEC18A +OMIM:616571 skos:exactMatch HGNC_symbol:CLEC18A Unspecified CLEC18A +OMIM:616572 skos:exactMatch UMLS:C2681365 Unspecified CLEC18B +OMIM:616572 skos:exactMatch HGNC_symbol:CLEC18B Unspecified CLEC18B +OMIM:616572 skos:exactMatch HGNC:33849 Unspecified CLEC18B +OMIM:616573 skos:exactMatch UMLS:C2681366 Unspecified CLEC18C +OMIM:616573 skos:exactMatch HGNC_symbol:CLEC18C Unspecified CLEC18C +OMIM:616573 skos:exactMatch HGNC:28538 Unspecified CLEC18C +OMIM:616574 skos:exactMatch HGNC_symbol:MICOS10 Unspecified MICOS10 +OMIM:616574 skos:exactMatch UMLS:C3470957 Unspecified MICOS10 +OMIM:616574 skos:exactMatch HGNC:32068 Unspecified MICOS10 +OMIM:616575 skos:exactMatch UMLS:C1423533 Unspecified LENG8 +OMIM:616575 skos:exactMatch HGNC_symbol:LENG8 Unspecified LENG8 +OMIM:616575 skos:exactMatch HGNC:15500 Unspecified LENG8 +OMIM:616576 skos:exactMatch ORPHA:1572 Unspecified immunodeficiency, common variable, 12, with autoimmunity +OMIM:616576 skos:exactMatch UMLS:C4225277 Unspecified immunodeficiency, common variable, 12, with autoimmunity +OMIM:616577 skos:exactMatch UMLS:C4225276 Unspecified neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities +OMIM:616577 skos:exactMatch ORPHA:457351 Unspecified neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities +OMIM:616567 skos:exactMatch HGNC_symbol:DAPK2 Unspecified DAPK2 +OMIM:616567 skos:exactMatch UMLS:C1413907 Unspecified DAPK2 +OMIM:616567 skos:exactMatch HGNC:2675 Unspecified DAPK2 +OMIM:616568 skos:exactMatch UMLS:C4225278 Unspecified glioma susceptibility 9 +OMIM:616569 skos:exactMatch UMLS:C1425926 Unspecified CSAD +OMIM:616569 skos:exactMatch HGNC_symbol:CSAD Unspecified CSAD +OMIM:616569 skos:exactMatch HGNC:18966 Unspecified CSAD +OMIM:604590 skos:exactMatch HGNC_symbol:FCGR2B Unspecified FCGR2B +OMIM:604590 skos:exactMatch UMLS:C3862275 Unspecified FCGR2B +OMIM:604590 skos:exactMatch HGNC:3618 Unspecified FCGR2B +OMIM:604590 skos:exactMatch UMLS:C2720293 Unspecified FCGR2B +OMIM:604590 skos:exactMatch UMLS:C1414554 Unspecified FCGR2B +OMIM:604592 skos:exactMatch HGNC:11647 Unspecified TCIRG1 +OMIM:604592 skos:exactMatch HGNC_symbol:TCIRG1 Unspecified TCIRG1 +OMIM:604592 skos:exactMatch UMLS:C1420649 Unspecified TCIRG1 +OMIM:604591 skos:exactMatch UMLS:C1826565 Unspecified PEBP1 +OMIM:604591 skos:exactMatch HGNC_symbol:PEBP1 Unspecified PEBP1 +OMIM:604591 skos:exactMatch HGNC:8630 Unspecified PEBP1 +OMIM:251200 skos:exactMatch ORPHA:2512 Unspecified microcephaly 1, primary, autosomal recessive +OMIM:251200 skos:exactMatch UMLS:C1855081 Unspecified microcephaly 1, primary, autosomal recessive +OMIM:604594 skos:exactMatch HGNC_symbol:CRIPT Unspecified CRIPT +OMIM:604594 skos:exactMatch UMLS:C1824793 Unspecified CRIPT +OMIM:604594 skos:exactMatch HGNC:14312 Unspecified CRIPT +OMIM:604593 skos:exactMatch HGNC:6325 Unspecified KIF5C +OMIM:604593 skos:exactMatch UMLS:C1416640 Unspecified KIF5C +OMIM:604593 skos:exactMatch HGNC_symbol:KIF5C Unspecified KIF5C +OMIM:604596 skos:exactMatch HGNC_symbol:FBXW10B Unspecified CDRT1 +OMIM:604596 skos:exactMatch UMLS:C1422603 Unspecified CDRT1 +OMIM:604596 skos:exactMatch HGNC:14379 Unspecified CDRT1 +OMIM:604595 skos:exactMatch UMLS:C1858233 Unspecified cholesterol level quantitative trait locus 1 +OMIM:604598 skos:exactMatch HGNC_symbol:OSGIN2 Unspecified OSGIN2 +OMIM:604598 skos:exactMatch UMLS:C1826518 Unspecified OSGIN2 +OMIM:604598 skos:exactMatch HGNC:1355 Unspecified OSGIN2 +OMIM:604597 skos:exactMatch UMLS:C1425727 Unspecified GRIP1 +OMIM:604597 skos:exactMatch HGNC_symbol:GRIP1 Unspecified GRIP1 +OMIM:604597 skos:exactMatch HGNC:18708 Unspecified GRIP1 +OMIM:300511 skos:exactMatch UMLS:C1845293 Unspecified premature ovarian failure 2a +OMIM:300510 skos:exactMatch UMLS:C1845295 Unspecified ovarian dysgenesis 2 +OMIM:300510 skos:exactMatch UMLS:C1845294 Unspecified ovarian dysgenesis 2 +OMIM:300510 skos:exactMatch ORPHA:243 Unspecified ovarian dysgenesis 2 +OMIM:300513 skos:exactMatch UMLS:C1425983 Unspecified GPR119 +OMIM:300513 skos:exactMatch HGNC_symbol:GPR119 Unspecified GPR119 +OMIM:300513 skos:exactMatch HGNC:19060 Unspecified GPR119 +OMIM:300512 skos:exactMatch HGNC:14352 Unspecified WDR13 +OMIM:300512 skos:exactMatch HGNC_symbol:WDR13 Unspecified WDR13 +OMIM:300512 skos:exactMatch UMLS:C1422586 Unspecified WDR13 +OMIM:300515 skos:exactMatch HGNC_symbol:FANCB Unspecified FANCB +OMIM:300515 skos:exactMatch HGNC:3583 Unspecified FANCB +OMIM:300515 skos:exactMatch UMLS:C1414528 Unspecified FANCB +OMIM:300514 skos:exactMatch UMLS:C1845292 Unspecified fanconi anemia, complementation group B +OMIM:241850 skos:exactMatch UMLS:C1855794 Unspecified hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate +OMIM:300517 skos:exactMatch HGNC:33147 Unspecified SPIN2B +OMIM:300517 skos:exactMatch UMLS:C1823109 Unspecified SPIN2B +OMIM:300517 skos:exactMatch HGNC_symbol:SPIN2B Unspecified SPIN2B +OMIM:300516 skos:exactMatch HGNC:13554 Unspecified ATP11C +OMIM:300516 skos:exactMatch UMLS:C1422062 Unspecified ATP11C +OMIM:300516 skos:exactMatch HGNC_symbol:ATP11C Unspecified ATP11C +OMIM:300519 skos:exactMatch UMLS:C1845285 Unspecified martin-probst syndrome +OMIM:300518 skos:exactMatch UMLS:C1845286 Unspecified mental retardation, X-linked 82 +OMIM:300520 skos:exactMatch UMLS:C1413469 Unspecified CLDN2 +OMIM:300520 skos:exactMatch HGNC_symbol:CLDN2 Unspecified CLDN2 +OMIM:300520 skos:exactMatch HGNC:2041 Unspecified CLDN2 +OMIM:300522 skos:exactMatch HGNC_symbol:IQSEC2 Unspecified IQSEC2 +OMIM:300522 skos:exactMatch UMLS:C1537419 Unspecified IQSEC2 +OMIM:300522 skos:exactMatch HGNC:29059 Unspecified IQSEC2 +OMIM:300521 skos:exactMatch HGNC_symbol:KIF4A Unspecified KIF4A +OMIM:300521 skos:exactMatch HGNC:13339 Unspecified KIF4A +OMIM:300521 skos:exactMatch UMLS:C1421941 Unspecified KIF4A +OMIM:300524 skos:exactMatch HGNC:29433 Unspecified NEXMIF +OMIM:300524 skos:exactMatch HGNC_symbol:NEXMIF Unspecified NEXMIF +OMIM:300524 skos:exactMatch UMLS:C1845260 Unspecified NEXMIF +OMIM:300523 skos:exactMatch ORPHA:280270 Unspecified allan-herndon-dudley syndrome +OMIM:300523 skos:exactMatch ORPHA:59 Unspecified allan-herndon-dudley syndrome +OMIM:300523 skos:exactMatch UMLS:C0795889 Unspecified allan-herndon-dudley syndrome +OMIM:226200 skos:exactMatch ORPHA:168601 Unspecified enterokinase deficiency +OMIM:226200 skos:exactMatch UMLS:C0268416 Unspecified enterokinase deficiency +OMIM:300526 skos:exactMatch HGNC:28912 Unspecified WDR45 +OMIM:300526 skos:exactMatch UMLS:C1538088 Unspecified WDR45 +OMIM:300526 skos:exactMatch HGNC_symbol:WDR45 Unspecified WDR45 +OMIM:300525 skos:exactMatch UMLS:C3275246 Unspecified P2RY8 +OMIM:300525 skos:exactMatch HGNC:15524 Unspecified P2RY8 +OMIM:300525 skos:exactMatch UMLS:C1423554 Unspecified P2RY8 +OMIM:300525 skos:exactMatch HGNC_symbol:P2RY8 Unspecified P2RY8 +OMIM:300528 skos:exactMatch UMLS:C1425238 Unspecified NUDT11 +OMIM:300528 skos:exactMatch HGNC_symbol:NUDT11 Unspecified NUDT11 +OMIM:300528 skos:exactMatch HGNC:18011 Unspecified NUDT11 +OMIM:300527 skos:exactMatch HGNC:17621 Unspecified NUDT10 +OMIM:300527 skos:exactMatch UMLS:C1425016 Unspecified NUDT10 +OMIM:300527 skos:exactMatch HGNC_symbol:NUDT10 Unspecified NUDT10 +OMIM:300529 skos:exactMatch HGNC:19906 Unspecified P2RY10 +OMIM:300529 skos:exactMatch HGNC_symbol:P2RY10 Unspecified P2RY10 +OMIM:300529 skos:exactMatch UMLS:C1426521 Unspecified P2RY10 +OMIM:312500 skos:exactMatch UMLS:C0035288 Unspecified reticuloendotheliosis, X-linked +OMIM:265800 skos:exactMatch UMLS:C0238402 Unspecified pycnodysostosis +OMIM:300500 skos:exactMatch UMLS:C0342684 Unspecified albinism, ocular, iia 1 +OMIM:300502 skos:exactMatch HGNC_symbol:PDHA1 Unspecified PDHA1 +OMIM:300502 skos:exactMatch HGNC:8806 Unspecified PDHA1 +OMIM:300502 skos:exactMatch UMLS:C1418437 Unspecified PDHA1 +OMIM:300506 skos:exactMatch HGNC:3051 Unspecified TSC22D3 +OMIM:300506 skos:exactMatch UMLS:C1540075 Unspecified TSC22D3 +OMIM:300506 skos:exactMatch HGNC_symbol:TSC22D3 Unspecified TSC22D3 +OMIM:300505 skos:exactMatch UMLS:C1845297 Unspecified intellectual developmental disorder, X-linked 84 +OMIM:300508 skos:exactMatch UMLS:C1540168 Unspecified UTP14A +OMIM:300508 skos:exactMatch HGNC:10665 Unspecified UTP14A +OMIM:300508 skos:exactMatch HGNC_symbol:UTP14A Unspecified UTP14A +OMIM:300507 skos:exactMatch HGNC_symbol:H2BW1 Unspecified H2BFWT +OMIM:300507 skos:exactMatch HGNC:27252 Unspecified H2BFWT +OMIM:300507 skos:exactMatch UMLS:C1539629 Unspecified H2BFWT +OMIM:300509 skos:exactMatch UMLS:C1845296 Unspecified dyslexia, susceptibility to, 9 +OMIM:202200 skos:exactMatch UMLS:C4049650 Unspecified glucocorticoid deficiency 1 +OMIM:204870 skos:exactMatch UMLS:C0339273 Unspecified corneal dystrophy, gelatinous drop-like +OMIM:580000 skos:exactMatch UMLS:C1838854 Unspecified deafness, aminoglycoside-induced +OMIM:253800 skos:exactMatch UMLS:C0410174 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 4 +OMIM:241800 skos:exactMatch UMLS:C5435677 Unspecified pallister-hall-like syndrome +OMIM:241800 skos:exactMatch ORPHA:2113 Unspecified pallister-hall-like syndrome +OMIM:131400 skos:exactMatch UMLS:C0272192 Unspecified eosinophilia, familial +OMIM:216800 skos:exactMatch UMLS:C1857619 Unspecified coloboma of macula and skeletal anomalies +OMIM:131410 skos:exactMatch HGNC_symbol:RNASE2 Unspecified RNASE2 +OMIM:131410 skos:exactMatch UMLS:C1419408 Unspecified RNASE2 +OMIM:131410 skos:exactMatch HGNC:10045 Unspecified RNASE2 +OMIM:143400 skos:exactMatch UMLS:C1840451 Unspecified congenital anomalies of kidney and urinary tract 2 +OMIM:143400 skos:exactMatch UMLS:C0521619 Unspecified congenital anomalies of kidney and urinary tract 2 +OMIM:216820 skos:exactMatch UMLS:C4011974 Unspecified coloboma, ocular, autosomal recessive +OMIM:131430 skos:exactMatch UMLS:C1851586 Unspecified eosinophilopenia +OMIM:228800 skos:exactMatch UMLS:C0494949 Unspecified fibrosclerosis, multifocal +OMIM:204850 skos:exactMatch UMLS:C1859815 Unspecified amyloidosis of gingiva and conjunctiva with impaired intellectual development +OMIM:131320 skos:exactMatch HGNC:4172 Unspecified GATA3 +OMIM:131320 skos:exactMatch HGNC_symbol:GATA3 Unspecified GATA3 +OMIM:131320 skos:exactMatch UMLS:C1414994 Unspecified GATA3 +OMIM:157950 skos:exactMatch UMLS:C0155930 Unspecified permanent molars, secondary retention of +OMIM:118470 skos:exactMatch HGNC_symbol:CETP Unspecified CETP +OMIM:118470 skos:exactMatch HGNC:1869 Unspecified CETP +OMIM:118470 skos:exactMatch UMLS:C1413353 Unspecified CETP +OMIM:106491 skos:exactMatch UMLS:C1412425 Unspecified ANXA4 +OMIM:106491 skos:exactMatch HGNC:542 Unspecified ANXA4 +OMIM:106491 skos:exactMatch HGNC_symbol:ANXA4 Unspecified ANXA4 +OMIM:106490 skos:exactMatch HGNC_symbol:ANXA3 Unspecified ANXA3 +OMIM:106490 skos:exactMatch HGNC:541 Unspecified ANXA3 +OMIM:106490 skos:exactMatch UMLS:C1412424 Unspecified ANXA3 +OMIM:131330 skos:exactMatch HGNC:8831 Unspecified PENK +OMIM:131330 skos:exactMatch HGNC_symbol:PENK Unspecified PENK +OMIM:131330 skos:exactMatch UMLS:C1418457 Unspecified PENK +OMIM:118455 skos:exactMatch HGNC:2651 Unspecified CYP7A1 +OMIM:118455 skos:exactMatch HGNC_symbol:CYP7A1 Unspecified CYP7A1 +OMIM:118455 skos:exactMatch UMLS:C1413893 Unspecified CYP7A1 +OMIM:118457 skos:exactMatch UMLS:C1861617 Unspecified CCI +OMIM:182920 skos:exactMatch UMLS:C1866785 Unspecified myopathy, spheroid body +OMIM:182920 skos:exactMatch ORPHA:268129 Unspecified myopathy, spheroid body +OMIM:157970 skos:exactMatch HGNC:9565 Unspecified PSMD7 +OMIM:157970 skos:exactMatch UMLS:C1419038 Unspecified PSMD7 +OMIM:157970 skos:exactMatch HGNC_symbol:PSMD7 Unspecified PSMD7 +OMIM:155310 skos:exactMatch UMLS:C1608393 Unspecified visceral myopathy 1 +OMIM:155310 skos:exactMatch UMLS:C0042781 Unspecified visceral myopathy 1 +OMIM:131340 skos:exactMatch HGNC:8820 Unspecified PDYN +OMIM:131340 skos:exactMatch HGNC_symbol:PDYN Unspecified PDYN +OMIM:131340 skos:exactMatch UMLS:C1418447 Unspecified PDYN +OMIM:118444 skos:exactMatch HGNC:1570 Unspecified CCKAR +OMIM:118444 skos:exactMatch UMLS:C1413168 Unspecified CCKAR +OMIM:118444 skos:exactMatch HGNC_symbol:CCKAR Unspecified CCKAR +OMIM:204800 skos:exactMatch UMLS:C1859816 Unspecified amobarbital, deficient n-hydroxylation of +OMIM:118445 skos:exactMatch HGNC:1571 Unspecified CCKBR +OMIM:118445 skos:exactMatch HGNC_symbol:CCKBR Unspecified CCKBR +OMIM:118445 skos:exactMatch UMLS:C1332675 Unspecified CCKBR +OMIM:118450 skos:exactMatch UMLS:C0085280 Unspecified alagille syndrome 1 +OMIM:118450 skos:exactMatch UMLS:C1956125 Unspecified alagille syndrome 1 +OMIM:145980 skos:exactMatch UMLS:C0342637 Unspecified hypocalciuric hypercalcemia, familial, iia 1 +OMIM:145980 skos:exactMatch ORPHA:93372 Unspecified hypocalciuric hypercalcemia, familial, iia 1 +OMIM:145980 skos:exactMatch ORPHA:405 Unspecified hypocalciuric hypercalcemia, familial, iia 1 +OMIM:145981 skos:exactMatch UMLS:C1840347 Unspecified hypocalciuric hypercalcemia, familial, iia 2 +OMIM:145981 skos:exactMatch ORPHA:101049 Unspecified hypocalciuric hypercalcemia, familial, iia 2 +OMIM:145981 skos:exactMatch ORPHA:405 Unspecified hypocalciuric hypercalcemia, familial, iia 2 +OMIM:157960 skos:exactMatch UMLS:C1417195 Unspecified moloney leukemia virus integration site 2, mouse, homolog of +OMIM:118440 skos:exactMatch HGNC_symbol:CCK Unspecified CCK +OMIM:118440 skos:exactMatch HGNC:1569 Unspecified CCK +OMIM:118440 skos:exactMatch UMLS:C1413167 Unspecified CCK +OMIM:182900 skos:exactMatch UMLS:C2674218 Unspecified spherocytosis, iia 1 +OMIM:131360 skos:exactMatch HGNC_symbol:ENO2 Unspecified ENO2 +OMIM:131360 skos:exactMatch UMLS:C1414404 Unspecified ENO2 +OMIM:131360 skos:exactMatch HGNC:3353 Unspecified ENO2 +OMIM:182950 skos:exactMatch UMLS:C1710146 Unspecified spinal arachnoiditis +OMIM:118423 skos:exactMatch UMLS:C0751083 Unspecified CHN1 +OMIM:118423 skos:exactMatch HGNC_symbol:CHN1 Unspecified CHN1 +OMIM:118423 skos:exactMatch HGNC:1943 Unspecified CHN1 +OMIM:118423 skos:exactMatch UMLS:C1413396 Unspecified CHN1 +OMIM:275190 skos:exactMatch UMLS:C1848793 Unspecified tiglic acidemia +OMIM:118425 skos:exactMatch HGNC:2019 Unspecified CLCN1 +OMIM:118425 skos:exactMatch UMLS:C1413450 Unspecified CLCN1 +OMIM:118425 skos:exactMatch HGNC_symbol:CLCN1 Unspecified CLCN1 +OMIM:118430 skos:exactMatch UMLS:C1861630 Unspecified chlorpropamide-alcohol flushing +OMIM:131370 skos:exactMatch HGNC:3354 Unspecified ENO3 +OMIM:131370 skos:exactMatch HGNC_symbol:ENO3 Unspecified ENO3 +OMIM:131370 skos:exactMatch UMLS:C1414405 Unspecified ENO3 +OMIM:157980 skos:exactMatch UMLS:C1834759 Unspecified momo syndrome +OMIM:182960 skos:exactMatch UMLS:C1866784 Unspecified neuronopathy, distal hereditary motor, iia 1 +OMIM:182960 skos:exactMatch ORPHA:139518 Unspecified neuronopathy, distal hereditary motor, iia 1 +OMIM:131375 skos:exactMatch HGNC_symbol:ENO4 Unspecified enolase, sperm specific +OMIM:131375 skos:exactMatch HGNC:31670 Unspecified enolase, sperm specific +OMIM:131375 skos:exactMatch UMLS:C3888311 Unspecified enolase, sperm specific +OMIM:180300 skos:exactMatch UMLS:C1833448 Unspecified rheumatoid arthritis +OMIM:180300 skos:exactMatch UMLS:C0003873 Unspecified rheumatoid arthritis +OMIM:167300 skos:exactMatch UMLS:C0030186 Unspecified paget disease, extramammary +OMIM:118420 skos:exactMatch UMLS:C0750929 Unspecified chiari malformation iia 1 +OMIM:118420 skos:exactMatch UMLS:C1861647 Unspecified chiari malformation iia 1 +OMIM:155350 skos:exactMatch UMLS:C3805727 Unspecified megalencephaly, autosomal dominant +OMIM:118400 skos:exactMatch ORPHA:184 Unspecified cherubism +OMIM:118400 skos:exactMatch UMLS:C0008029 Unspecified cherubism +OMIM:170980 skos:exactMatch UMLS:C1868426 Unspecified peroneal nerve, accessory deep +OMIM:106410 skos:exactMatch HGNC_symbol:ANK2 Unspecified ANK2 +OMIM:106410 skos:exactMatch UMLS:C4015968 Unspecified ANK2 +OMIM:106410 skos:exactMatch HGNC:493 Unspecified ANK2 +OMIM:106410 skos:exactMatch UMLS:C1970119 Unspecified ANK2 +OMIM:106410 skos:exactMatch UMLS:C1833154 Unspecified ANK2 +OMIM:106410 skos:exactMatch UMLS:C1412403 Unspecified ANK2 +OMIM:131390 skos:exactMatch HGNC:7821 Unspecified NID1 +OMIM:131390 skos:exactMatch UMLS:C1334880 Unspecified NID1 +OMIM:131390 skos:exactMatch HGNC_symbol:NID1 Unspecified NID1 +OMIM:182940 skos:exactMatch UMLS:C3891448 Unspecified neural tube defects, susceptibility to +OMIM:182940 skos:exactMatch UMLS:C0080178 Unspecified neural tube defects, susceptibility to +OMIM:131398 skos:exactMatch HGNC_symbol:RNASE3 Unspecified RNASE3 +OMIM:131398 skos:exactMatch UMLS:C1419409 Unspecified RNASE3 +OMIM:131398 skos:exactMatch HGNC:10046 Unspecified RNASE3 +OMIM:167320 skos:exactMatch ORPHA:52430 Unspecified inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 +OMIM:167320 skos:exactMatch UMLS:C4551951 Unspecified inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 +OMIM:167320 skos:exactMatch UMLS:C1833662 Unspecified inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 +OMIM:131399 skos:exactMatch HGNC:3423 Unspecified EPX +OMIM:131399 skos:exactMatch HGNC_symbol:EPX Unspecified EPX +OMIM:131399 skos:exactMatch UMLS:C1414438 Unspecified EPX +OMIM:179300 skos:exactMatch ORPHA:3269 Unspecified radioulnar synostosis, nonsyndromic, susceptibility to +OMIM:179300 skos:exactMatch UMLS:C5241445 Unspecified radioulnar synostosis, nonsyndromic, susceptibility to +OMIM:604534 skos:exactMatch HGNC_symbol:CD83 Unspecified CD83 +OMIM:604534 skos:exactMatch UMLS:C1413241 Unspecified CD83 +OMIM:604534 skos:exactMatch HGNC:1703 Unspecified CD83 +OMIM:604533 skos:exactMatch UMLS:C1416478 Unspecified ISG20 +OMIM:604533 skos:exactMatch HGNC_symbol:ISG20 Unspecified ISG20 +OMIM:604533 skos:exactMatch HGNC:6130 Unspecified ISG20 +OMIM:604536 skos:exactMatch ORPHA:158668 Unspecified ectodermal dysplasia/skin fragility syndrome +OMIM:604536 skos:exactMatch UMLS:C1858302 Unspecified ectodermal dysplasia/skin fragility syndrome +OMIM:300550 skos:exactMatch HGNC_symbol:PHEX Unspecified PHEX +OMIM:300550 skos:exactMatch UMLS:C1418526 Unspecified PHEX +OMIM:300550 skos:exactMatch HGNC:8918 Unspecified PHEX +OMIM:182990 skos:exactMatch UMLS:C0344485 Unspecified spinal intradural arachnoid cysts +OMIM:604535 skos:exactMatch UMLS:C1416641 Unspecified KIFC3 +OMIM:604535 skos:exactMatch HGNC_symbol:KIFC3 Unspecified KIFC3 +OMIM:604535 skos:exactMatch HGNC:6326 Unspecified KIFC3 +OMIM:300553 skos:exactMatch HGNC_symbol:BRWD3 Unspecified BRWD3 +OMIM:300553 skos:exactMatch UMLS:C1538965 Unspecified BRWD3 +OMIM:300553 skos:exactMatch HGNC:17342 Unspecified BRWD3 +OMIM:604538 skos:exactMatch UMLS:C1416698 Unspecified KIF2C +OMIM:604538 skos:exactMatch HGNC_symbol:KIF2C Unspecified KIF2C +OMIM:604538 skos:exactMatch HGNC:6393 Unspecified KIF2C +OMIM:604537 skos:exactMatch UMLS:C1858301 Unspecified leber congenital amaurosis 5 +OMIM:192315 skos:exactMatch UMLS:C1860518 Unspecified vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations +OMIM:300552 skos:exactMatch UMLS:C1417167 Unspecified MID1 +OMIM:300552 skos:exactMatch HGNC_symbol:MID1 Unspecified MID1 +OMIM:300552 skos:exactMatch HGNC:7095 Unspecified MID1 +OMIM:300555 skos:exactMatch ORPHA:93623 Unspecified dent disease 2 +OMIM:300555 skos:exactMatch UMLS:C1845167 Unspecified dent disease 2 +OMIM:300555 skos:exactMatch ORPHA:1652 Unspecified dent disease 2 +OMIM:300554 skos:exactMatch ORPHA:93622 Unspecified hypophosphatemic rickets, X-linked recessive +OMIM:300554 skos:exactMatch UMLS:C1845168 Unspecified hypophosphatemic rickets, X-linked recessive +OMIM:300554 skos:exactMatch ORPHA:1652 Unspecified hypophosphatemic rickets, X-linked recessive +OMIM:604539 skos:exactMatch HGNC:218 Unspecified ADAMTS2 +OMIM:604539 skos:exactMatch UMLS:C1412208 Unspecified ADAMTS2 +OMIM:604539 skos:exactMatch HGNC_symbol:ADAMTS2 Unspecified ADAMTS2 +OMIM:300557 skos:exactMatch UMLS:C1845165 Unspecified parkinson disease 12 +OMIM:300556 skos:exactMatch HGNC_symbol:ATP6AP2 Unspecified ATP6AP2 +OMIM:300556 skos:exactMatch UMLS:C1425435 Unspecified ATP6AP2 +OMIM:300556 skos:exactMatch UMLS:C3806722 Unspecified ATP6AP2 +OMIM:300556 skos:exactMatch UMLS:C1845543 Unspecified ATP6AP2 +OMIM:300556 skos:exactMatch UMLS:C5393313 Unspecified ATP6AP2 +OMIM:300556 skos:exactMatch HGNC:18305 Unspecified ATP6AP2 +OMIM:300559 skos:exactMatch UMLS:C1845151 Unspecified glycogen storage disease, iia ixd +OMIM:300558 skos:exactMatch UMLS:C0796237 Unspecified intellectual developmental disorder, X-linked 30 +OMIM:300558 skos:exactMatch UMLS:C0796249 Unspecified intellectual developmental disorder, X-linked 30 +OMIM:616520 skos:exactMatch UMLS:C2239469 Unspecified AHCYL2 +OMIM:616520 skos:exactMatch HGNC_symbol:AHCYL2 Unspecified AHCYL2 +OMIM:616520 skos:exactMatch HGNC:22204 Unspecified AHCYL2 +OMIM:616521 skos:exactMatch UMLS:C4225296 Unspecified intellectual developmental disorder, autosomal dominant 39 +OMIM:616521 skos:exactMatch UMLS:C4225432 Unspecified intellectual developmental disorder, autosomal dominant 39 +OMIM:616521 skos:exactMatch UMLS:C4225433 Unspecified intellectual developmental disorder, autosomal dominant 39 +OMIM:616522 skos:exactMatch HGNC_symbol:DCUN1D5 Unspecified DCUN1D5 +OMIM:616522 skos:exactMatch UMLS:C1824898 Unspecified DCUN1D5 +OMIM:616522 skos:exactMatch HGNC:28409 Unspecified DCUN1D5 +OMIM:616512 skos:exactMatch HGNC_symbol:RNF152 Unspecified RNF152 +OMIM:616512 skos:exactMatch UMLS:C1428625 Unspecified RNF152 +OMIM:616512 skos:exactMatch HGNC:26811 Unspecified RNF152 +OMIM:616513 skos:exactMatch HGNC_symbol:LARP4B Unspecified LARP4B +OMIM:616513 skos:exactMatch UMLS:C1825790 Unspecified LARP4B +OMIM:616513 skos:exactMatch HGNC:28987 Unspecified LARP4B +OMIM:251170 skos:exactMatch HGNC:7530 Unspecified MVK +OMIM:251170 skos:exactMatch UMLS:C1417508 Unspecified MVK +OMIM:251170 skos:exactMatch HGNC_symbol:MVK Unspecified MVK +OMIM:616514 skos:exactMatch HGNC_symbol:MCRIP1 Unspecified FAM195B +OMIM:616514 skos:exactMatch HGNC:28007 Unspecified FAM195B +OMIM:616514 skos:exactMatch UMLS:C2829375 Unspecified FAM195B +OMIM:616515 skos:exactMatch UMLS:C4225298 Unspecified deafness, autosomal recessive 104 +OMIM:616516 skos:exactMatch ORPHA:261 Unspecified emery-dreifuss muscular dystrophy 3, autosomal recessive +OMIM:616516 skos:exactMatch ORPHA:98855 Unspecified emery-dreifuss muscular dystrophy 3, autosomal recessive +OMIM:616516 skos:exactMatch UMLS:C2750035 Unspecified emery-dreifuss muscular dystrophy 3, autosomal recessive +OMIM:616517 skos:exactMatch UMLS:C4225297 Unspecified achromatopsia 7 +OMIM:616518 skos:exactMatch HGNC_symbol:SLC38A6 Unspecified SLC38A6 +OMIM:616518 skos:exactMatch HGNC:19863 Unspecified SLC38A6 +OMIM:616518 skos:exactMatch UMLS:C1426489 Unspecified SLC38A6 +OMIM:616519 skos:exactMatch HGNC:25386 Unspecified PDE12 +OMIM:616519 skos:exactMatch UMLS:C2239804 Unspecified PDE12 +OMIM:616519 skos:exactMatch HGNC_symbol:PDE12 Unspecified PDE12 +OMIM:192310 skos:exactMatch UMLS:C1860519 Unspecified vasculitis, lymphocytic, nodular +OMIM:604541 skos:exactMatch UMLS:C1825753 Unspecified KRT37 +OMIM:604541 skos:exactMatch HGNC_symbol:KRT37 Unspecified KRT37 +OMIM:604541 skos:exactMatch HGNC:6455 Unspecified KRT37 +OMIM:604540 skos:exactMatch UMLS:C1825752 Unspecified KRT36 +OMIM:604540 skos:exactMatch HGNC_symbol:KRT36 Unspecified KRT36 +OMIM:604540 skos:exactMatch HGNC:6454 Unspecified KRT36 +OMIM:604543 skos:exactMatch UMLS:C1334341 Unspecified LIMD1 +OMIM:604543 skos:exactMatch HGNC:6612 Unspecified LIMD1 +OMIM:604543 skos:exactMatch HGNC_symbol:LIMD1 Unspecified LIMD1 +OMIM:604542 skos:exactMatch UMLS:C1825754 Unspecified KRT38 +OMIM:604542 skos:exactMatch HGNC_symbol:KRT38 Unspecified KRT38 +OMIM:604542 skos:exactMatch HGNC:6456 Unspecified KRT38 +OMIM:300560 skos:exactMatch HGNC_symbol:PHF8 Unspecified PHF8 +OMIM:300560 skos:exactMatch UMLS:C1538632 Unspecified PHF8 +OMIM:300560 skos:exactMatch HGNC:20672 Unspecified PHF8 +OMIM:604523 skos:exactMatch UMLS:C1332751 Unspecified CELSR1 +OMIM:604523 skos:exactMatch HGNC:1850 Unspecified CELSR1 +OMIM:604523 skos:exactMatch HGNC_symbol:CELSR1 Unspecified CELSR1 +OMIM:604522 skos:exactMatch HGNC:2762 Unspecified DEFA3 +OMIM:604522 skos:exactMatch UMLS:C1413974 Unspecified DEFA3 +OMIM:604522 skos:exactMatch HGNC_symbol:DEFA3 Unspecified DEFA3 +OMIM:604525 skos:exactMatch HGNC:5184 Unspecified HRH3 +OMIM:604525 skos:exactMatch HGNC_symbol:HRH3 Unspecified HRH3 +OMIM:604525 skos:exactMatch UMLS:C1439353 Unspecified HRH3 +OMIM:300562 skos:exactMatch HGNC:23502 Unspecified SLITRK4 +OMIM:300562 skos:exactMatch UMLS:C1428106 Unspecified SLITRK4 +OMIM:300562 skos:exactMatch HGNC_symbol:SLITRK4 Unspecified SLITRK4 +OMIM:604524 skos:exactMatch HGNC:6729 Unspecified LY75 +OMIM:604524 skos:exactMatch HGNC_symbol:LY75 Unspecified LY75 +OMIM:604524 skos:exactMatch UMLS:C1416939 Unspecified LY75 +OMIM:300561 skos:exactMatch UMLS:C1422001 Unspecified SLITRK2 +OMIM:300561 skos:exactMatch HGNC_symbol:SLITRK2 Unspecified SLITRK2 +OMIM:300561 skos:exactMatch HGNC:13449 Unspecified SLITRK2 +OMIM:300564 skos:exactMatch HGNC:24358 Unspecified TSPYL2 +OMIM:300564 skos:exactMatch UMLS:C1540100 Unspecified TSPYL2 +OMIM:300564 skos:exactMatch HGNC_symbol:TSPYL2 Unspecified TSPYL2 +OMIM:604527 skos:exactMatch UMLS:C1416573 Unspecified KCNH3 +OMIM:604527 skos:exactMatch HGNC_symbol:KCNH3 Unspecified KCNH3 +OMIM:604527 skos:exactMatch HGNC:6252 Unspecified KCNH3 +OMIM:604526 skos:exactMatch HGNC:5385 Unspecified IDH3B +OMIM:604526 skos:exactMatch UMLS:C2675496 Unspecified IDH3B +OMIM:604526 skos:exactMatch HGNC_symbol:IDH3B Unspecified IDH3B +OMIM:604526 skos:exactMatch UMLS:C1415879 Unspecified IDH3B +OMIM:300566 skos:exactMatch HGNC_symbol:LHFPL1 Unspecified LHFPL1 +OMIM:300566 skos:exactMatch HGNC:6587 Unspecified LHFPL1 +OMIM:300566 skos:exactMatch UMLS:C1416845 Unspecified LHFPL1 +OMIM:604529 skos:exactMatch UMLS:C1418198 Unspecified OTP +OMIM:604529 skos:exactMatch HGNC:8518 Unspecified OTP +OMIM:604529 skos:exactMatch HGNC_symbol:OTP Unspecified OTP +OMIM:604528 skos:exactMatch HGNC:6253 Unspecified KCNH4 +OMIM:604528 skos:exactMatch UMLS:C1416574 Unspecified KCNH4 +OMIM:604528 skos:exactMatch HGNC_symbol:KCNH4 Unspecified KCNH4 +OMIM:300568 skos:exactMatch HGNC:31601 Unspecified MIR221 +OMIM:300568 skos:exactMatch HGNC_symbol:MIR221 Unspecified MIR221 +OMIM:300568 skos:exactMatch UMLS:C1537859 Unspecified MIR221 +OMIM:170998 skos:exactMatch HGNC_symbol:PPARA Unspecified PPARA +OMIM:170998 skos:exactMatch UMLS:C1418776 Unspecified PPARA +OMIM:170998 skos:exactMatch UMLS:C1868414 Unspecified PPARA +OMIM:170998 skos:exactMatch HGNC:9232 Unspecified PPARA +OMIM:300567 skos:exactMatch HGNC_symbol:PGAM4 Unspecified PGAM4 +OMIM:300567 skos:exactMatch UMLS:C1826570 Unspecified PGAM4 +OMIM:300567 skos:exactMatch HGNC:21731 Unspecified PGAM4 +OMIM:170995 skos:exactMatch HGNC_symbol:ABCD3 Unspecified ABCD3 +OMIM:170995 skos:exactMatch HGNC:67 Unspecified ABCD3 +OMIM:170995 skos:exactMatch UMLS:C1412090 Unspecified ABCD3 +OMIM:300569 skos:exactMatch HGNC:31602 Unspecified MIR222 +OMIM:300569 skos:exactMatch HGNC_symbol:MIR222 Unspecified MIR222 +OMIM:300569 skos:exactMatch UMLS:C1537860 Unspecified MIR222 +OMIM:251190 skos:exactMatch UMLS:C1855089 Unspecified microcephalic primordial dwarfism, toriello iia +OMIM:616510 skos:exactMatch HGNC:19980 Unspecified GNPNAT1 +OMIM:616510 skos:exactMatch UMLS:C1426580 Unspecified GNPNAT1 +OMIM:616510 skos:exactMatch HGNC_symbol:GNPNAT1 Unspecified GNPNAT1 +OMIM:616511 skos:exactMatch UMLS:C4225299 Unspecified maturity-onset diabetes of the young, iia 14 +OMIM:616501 skos:exactMatch ORPHA:1561 Unspecified mitochondrial complex 4 deficiency, nuclear iia 13 +OMIM:616501 skos:exactMatch UMLS:C4225304 Unspecified mitochondrial complex 4 deficiency, nuclear iia 13 +OMIM:170990 skos:exactMatch UMLS:C1868425 Unspecified peroxidase, salivary +OMIM:616502 skos:exactMatch UMLS:C4049066 Unspecified cone-rod dystrophy 21 +OMIM:616503 skos:exactMatch UMLS:C4225303 Unspecified lethal congenital contracture syndrome 9 +OMIM:616504 skos:exactMatch UMLS:C2681660 Unspecified METTL14 +OMIM:616504 skos:exactMatch HGNC:29330 Unspecified METTL14 +OMIM:616504 skos:exactMatch HGNC_symbol:METTL14 Unspecified METTL14 +OMIM:170993 skos:exactMatch HGNC:9717 Unspecified PEX2 +OMIM:170993 skos:exactMatch UMLS:C1419149 Unspecified PEX2 +OMIM:170993 skos:exactMatch HGNC_symbol:PEX2 Unspecified PEX2 +OMIM:616505 skos:exactMatch UMLS:C4225302 Unspecified neuropathy, hereditary motor and sensory, iia vib, with optic atrophy +OMIM:616506 skos:exactMatch UMLS:C3472710 Unspecified NDNF +OMIM:616506 skos:exactMatch UMLS:C5394246 Unspecified NDNF +OMIM:616506 skos:exactMatch HGNC_symbol:NDNF Unspecified NDNF +OMIM:616506 skos:exactMatch HGNC:26256 Unspecified NDNF +OMIM:616507 skos:exactMatch UMLS:C4225301 Unspecified osteogenesis imperfecta, iia 17 +OMIM:616508 skos:exactMatch UMLS:C1422669 Unspecified SLC39A11 +OMIM:616508 skos:exactMatch HGNC_symbol:SLC39A11 Unspecified SLC39A11 +OMIM:616508 skos:exactMatch HGNC:14463 Unspecified SLC39A11 +OMIM:106400 skos:exactMatch UMLS:C0020498 Unspecified ankylosing vertebral hyperostosis with tylosis +OMIM:616509 skos:exactMatch UMLS:C4225300 Unspecified cataract 44 +OMIM:192321 skos:exactMatch HGNC_symbol:VIPR1 Unspecified VIPR1 +OMIM:192321 skos:exactMatch UMLS:C1336936 Unspecified VIPR1 +OMIM:192321 skos:exactMatch HGNC:12694 Unspecified VIPR1 +OMIM:192320 skos:exactMatch UMLS:C1366646 Unspecified VIP +OMIM:192320 skos:exactMatch HGNC_symbol:VIP Unspecified VIP +OMIM:192320 skos:exactMatch HGNC:12693 Unspecified VIP +OMIM:192320 skos:exactMatch UMLS:C0042395 Unspecified VIP +OMIM:604530 skos:exactMatch UMLS:C1416941 Unspecified NCR1 +OMIM:604530 skos:exactMatch HGNC:6731 Unspecified NCR1 +OMIM:604530 skos:exactMatch HGNC_symbol:NCR1 Unspecified NCR1 +OMIM:604532 skos:exactMatch HGNC:9011 Unspecified PKD2L1 +OMIM:604532 skos:exactMatch HGNC_symbol:PKD2L1 Unspecified PKD2L1 +OMIM:604532 skos:exactMatch UMLS:C1418601 Unspecified PKD2L1 +OMIM:604531 skos:exactMatch UMLS:C1416942 Unspecified NCR2 +OMIM:604531 skos:exactMatch HGNC:6732 Unspecified NCR2 +OMIM:604531 skos:exactMatch HGNC_symbol:NCR2 Unspecified NCR2 +OMIM:604512 skos:exactMatch HGNC:5999 Unspecified IL1RL2 +OMIM:604512 skos:exactMatch UMLS:C1416401 Unspecified IL1RL2 +OMIM:604512 skos:exactMatch HGNC_symbol:IL1RL2 Unspecified IL1RL2 +OMIM:604511 skos:exactMatch HGNC_symbol:CBX1 Unspecified CBX1 +OMIM:604511 skos:exactMatch HGNC:1551 Unspecified CBX1 +OMIM:604511 skos:exactMatch UMLS:C1413156 Unspecified CBX1 +OMIM:604514 skos:exactMatch UMLS:C1420018 Unspecified SH2D2A +OMIM:604514 skos:exactMatch HGNC:10821 Unspecified SH2D2A +OMIM:604514 skos:exactMatch HGNC_symbol:SH2D2A Unspecified SH2D2A +OMIM:604513 skos:exactMatch HGNC_symbol:CD84 Unspecified CD84 +OMIM:604513 skos:exactMatch HGNC:1704 Unspecified CD84 +OMIM:604513 skos:exactMatch UMLS:C1413242 Unspecified CD84 +OMIM:300531 skos:exactMatch HGNC:11271 Unspecified SPRY3 +OMIM:300531 skos:exactMatch UMLS:C1420384 Unspecified SPRY3 +OMIM:300531 skos:exactMatch HGNC_symbol:SPRY3 Unspecified SPRY3 +OMIM:604516 skos:exactMatch HGNC_symbol:CD101 Unspecified IGSF2 +OMIM:604516 skos:exactMatch HGNC:5949 Unspecified IGSF2 +OMIM:604516 skos:exactMatch UMLS:C1416371 Unspecified IGSF2 +OMIM:604515 skos:exactMatch HGNC_symbol:BLNK Unspecified BLNK +OMIM:604515 skos:exactMatch UMLS:C1332420 Unspecified BLNK +OMIM:604515 skos:exactMatch HGNC:14211 Unspecified BLNK +OMIM:182970 skos:exactMatch UMLS:C1866783 Unspecified spinal muscular atrophy, facioscapulohumeral iia +OMIM:300533 skos:exactMatch HGNC_symbol:VCX3A Unspecified VCX3A +OMIM:300533 skos:exactMatch HGNC:18159 Unspecified VCX3A +OMIM:300533 skos:exactMatch UMLS:C1540175 Unspecified VCX3A +OMIM:604518 skos:exactMatch HGNC_symbol:GRAP2 Unspecified GRAP2 +OMIM:604518 skos:exactMatch HGNC:4563 Unspecified GRAP2 +OMIM:604518 skos:exactMatch UMLS:C1415284 Unspecified GRAP2 +OMIM:604517 skos:exactMatch UMLS:C1418779 Unspecified PPARGC1A +OMIM:604517 skos:exactMatch HGNC_symbol:PPARGC1A Unspecified PPARGC1A +OMIM:604517 skos:exactMatch HGNC:9237 Unspecified PPARGC1A +OMIM:300532 skos:exactMatch HGNC_symbol:VCX2 Unspecified VCX2 +OMIM:300532 skos:exactMatch HGNC:18158 Unspecified VCX2 +OMIM:300532 skos:exactMatch UMLS:C1540174 Unspecified VCX2 +OMIM:300535 skos:exactMatch HGNC:8108 Unspecified OCRL +OMIM:300535 skos:exactMatch UMLS:C1845167 Unspecified OCRL +OMIM:300535 skos:exactMatch UMLS:C0028860 Unspecified OCRL +OMIM:300535 skos:exactMatch HGNC_symbol:OCRL Unspecified OCRL +OMIM:300535 skos:exactMatch UMLS:C1417931 Unspecified OCRL +OMIM:604519 skos:exactMatch UMLS:C1858303 Unspecified inflammatory bowel disease 3 +OMIM:300534 skos:exactMatch UMLS:C1845243 Unspecified intellectual developmental disorder, x-linked, syndromic, claes-jensen iia +OMIM:300534 skos:exactMatch ORPHA:85279 Unspecified intellectual developmental disorder, x-linked, syndromic, claes-jensen iia +OMIM:300536 skos:exactMatch UMLS:C1845236 Unspecified bone mineral density quantitative trait locus 4 +OMIM:300539 skos:exactMatch UMLS:C1845202 Unspecified nephrogenic syndrome of inappropriate antidiuresis +OMIM:300538 skos:exactMatch HGNC:897 Unspecified AVPR2 +OMIM:300538 skos:exactMatch UMLS:C1332124 Unspecified AVPR2 +OMIM:300538 skos:exactMatch HGNC_symbol:AVPR2 Unspecified AVPR2 +OMIM:616500 skos:exactMatch UMLS:C4225154 Unspecified mitochondrial complex 4 deficiency, nuclear iia 9 +OMIM:616500 skos:exactMatch ORPHA:1561 Unspecified mitochondrial complex 4 deficiency, nuclear iia 9 +OMIM:275120 skos:exactMatch UMLS:C3887992 Unspecified thyrotropin-releasing hormone deficiency +OMIM:604521 skos:exactMatch HGNC:4796 Unspecified HAAO +OMIM:604521 skos:exactMatch UMLS:C1415456 Unspecified HAAO +OMIM:604521 skos:exactMatch HGNC_symbol:HAAO Unspecified HAAO +OMIM:604520 skos:exactMatch HGNC:11930 Unspecified TNFSF14 +OMIM:604520 skos:exactMatch HGNC_symbol:TNFSF14 Unspecified TNFSF14 +OMIM:604520 skos:exactMatch UMLS:C1420817 Unspecified TNFSF14 +OMIM:604501 skos:exactMatch HGNC:12310 Unspecified TRIP4 +OMIM:604501 skos:exactMatch UMLS:C1421150 Unspecified TRIP4 +OMIM:604501 skos:exactMatch HGNC_symbol:TRIP4 Unspecified TRIP4 +OMIM:604500 skos:exactMatch HGNC:12309 Unspecified ZNHIT3 +OMIM:604500 skos:exactMatch UMLS:C1824077 Unspecified ZNHIT3 +OMIM:604500 skos:exactMatch HGNC_symbol:ZNHIT3 Unspecified ZNHIT3 +OMIM:182980 skos:exactMatch UMLS:C1854058 Unspecified spinal muscular atrophy, late-onset, finkel iia +OMIM:604503 skos:exactMatch HGNC_symbol:JMJD1C Unspecified JMJD1C +OMIM:604503 skos:exactMatch HGNC:12313 Unspecified JMJD1C +OMIM:604503 skos:exactMatch UMLS:C1421152 Unspecified JMJD1C +OMIM:300540 skos:exactMatch HGNC:32979 Unspecified HAUS7 +OMIM:300540 skos:exactMatch HGNC_symbol:HAUS7 Unspecified HAUS7 +OMIM:300540 skos:exactMatch UMLS:C1823588 Unspecified HAUS7 +OMIM:604502 skos:exactMatch HGNC:12312 Unspecified HMGN3 +OMIM:604502 skos:exactMatch UMLS:C1333914 Unspecified HMGN3 +OMIM:604502 skos:exactMatch HGNC_symbol:HMGN3 Unspecified HMGN3 +OMIM:604505 skos:exactMatch UMLS:C1858307 Unspecified TRIP11 +OMIM:604505 skos:exactMatch HGNC:12305 Unspecified TRIP11 +OMIM:604505 skos:exactMatch UMLS:C1421146 Unspecified TRIP11 +OMIM:604505 skos:exactMatch HGNC_symbol:TRIP11 Unspecified TRIP11 +OMIM:300542 skos:exactMatch HGNC_symbol:SSX7 Unspecified SSX7 +OMIM:300542 skos:exactMatch HGNC:19653 Unspecified SSX7 +OMIM:300542 skos:exactMatch UMLS:C1426303 Unspecified SSX7 +OMIM:300541 skos:exactMatch HGNC:19652 Unspecified SSX6 +OMIM:300541 skos:exactMatch HGNC_symbol:SSX6P Unspecified SSX6 +OMIM:300541 skos:exactMatch UMLS:C1426302 Unspecified SSX6 +OMIM:604504 skos:exactMatch HGNC:12304 Unspecified TRIP10 +OMIM:604504 skos:exactMatch UMLS:C1336675 Unspecified TRIP10 +OMIM:604504 skos:exactMatch HGNC_symbol:TRIP10 Unspecified TRIP10 +OMIM:300544 skos:exactMatch UMLS:C1426305 Unspecified SSX9 +OMIM:300544 skos:exactMatch HGNC:19655 Unspecified SSX9 +OMIM:300544 skos:exactMatch HGNC_symbol:SSX9P Unspecified SSX9 +OMIM:604507 skos:exactMatch HGNC_symbol:TRIP13 Unspecified TRIP13 +OMIM:604507 skos:exactMatch HGNC:12307 Unspecified TRIP13 +OMIM:604507 skos:exactMatch UMLS:C1421148 Unspecified TRIP13 +OMIM:604507 skos:exactMatch UMLS:C5436599 Unspecified TRIP13 +OMIM:604507 skos:exactMatch UMLS:C4539839 Unspecified TRIP13 +OMIM:604506 skos:exactMatch HGNC:12306 Unspecified TRIP12 +OMIM:604506 skos:exactMatch UMLS:C1421147 Unspecified TRIP12 +OMIM:604506 skos:exactMatch UMLS:C2931130 Unspecified TRIP12 +OMIM:604506 skos:exactMatch HGNC_symbol:TRIP12 Unspecified TRIP12 +OMIM:300543 skos:exactMatch HGNC:19654 Unspecified SSX8 +OMIM:300543 skos:exactMatch HGNC_symbol:SSX8P Unspecified SSX8 +OMIM:300543 skos:exactMatch UMLS:C1426304 Unspecified SSX8 +OMIM:300546 skos:exactMatch UMLS:C1414594 Unspecified FGD1 +OMIM:300546 skos:exactMatch HGNC_symbol:FGD1 Unspecified FGD1 +OMIM:300546 skos:exactMatch HGNC:3663 Unspecified FGD1 +OMIM:604509 skos:exactMatch HGNC_symbol:IL18RAP Unspecified IL18RAP +OMIM:604509 skos:exactMatch HGNC:5989 Unspecified IL18RAP +OMIM:604509 skos:exactMatch UMLS:C1416394 Unspecified IL18RAP +OMIM:604508 skos:exactMatch HGNC_symbol:COPS2 Unspecified COPS2 +OMIM:604508 skos:exactMatch UMLS:C1539124 Unspecified COPS2 +OMIM:604508 skos:exactMatch HGNC:30747 Unspecified COPS2 +OMIM:300545 skos:exactMatch HGNC_symbol:HS6ST2 Unspecified HS6ST2 +OMIM:300545 skos:exactMatch HGNC:19133 Unspecified HS6ST2 +OMIM:300545 skos:exactMatch UMLS:C1426035 Unspecified HS6ST2 +OMIM:300548 skos:exactMatch HGNC_symbol:MAGEH1 Unspecified MAGEH1 +OMIM:300548 skos:exactMatch HGNC:24092 Unspecified MAGEH1 +OMIM:300548 skos:exactMatch UMLS:C1537643 Unspecified MAGEH1 +OMIM:300547 skos:exactMatch HGNC_symbol:STK26 Unspecified STK26 +OMIM:300547 skos:exactMatch UMLS:C1845191 Unspecified STK26 +OMIM:300547 skos:exactMatch HGNC:18174 Unspecified STK26 +OMIM:300549 skos:exactMatch HGNC_symbol:MAGEA2B Unspecified MAGEA2B +OMIM:300549 skos:exactMatch HGNC:19340 Unspecified MAGEA2B +OMIM:300549 skos:exactMatch UMLS:C1537635 Unspecified MAGEA2B +OMIM:192300 skos:exactMatch UMLS:C1860520 Unspecified vascular helix of umbilical cord +OMIM:604510 skos:exactMatch HGNC:5323 Unspecified HYAL4 +OMIM:604510 skos:exactMatch UMLS:C1415828 Unspecified HYAL4 +OMIM:604510 skos:exactMatch HGNC_symbol:HYAL4 Unspecified HYAL4 +OMIM:300593 skos:exactMatch HGNC_symbol:SPACA5 Unspecified SPACA5 +OMIM:300593 skos:exactMatch HGNC:31353 Unspecified SPACA5 +OMIM:300593 skos:exactMatch UMLS:C1429186 Unspecified SPACA5 +OMIM:604578 skos:exactMatch HGNC_symbol:AIM2 Unspecified AIM2 +OMIM:604578 skos:exactMatch UMLS:C1332065 Unspecified AIM2 +OMIM:604578 skos:exactMatch HGNC:357 Unspecified AIM2 +OMIM:180370 skos:exactMatch HGNC_symbol:TST Unspecified TST +OMIM:180370 skos:exactMatch HGNC:12388 Unspecified TST +OMIM:180370 skos:exactMatch UMLS:C1421210 Unspecified TST +OMIM:604577 skos:exactMatch UMLS:C1412856 Unspecified BVES +OMIM:604577 skos:exactMatch HGNC_symbol:BVES Unspecified BVES +OMIM:604577 skos:exactMatch HGNC:1152 Unspecified BVES +OMIM:300592 skos:exactMatch HGNC:27397 Unspecified CT47A11 +OMIM:300592 skos:exactMatch UMLS:C1845114 Unspecified CT47A11 +OMIM:300592 skos:exactMatch HGNC_symbol:CT47A11 Unspecified CT47A11 +OMIM:300595 skos:exactMatch HGNC_symbol:GAGE2C Unspecified GAGE2C +OMIM:300595 skos:exactMatch HGNC:31958 Unspecified GAGE2C +OMIM:300595 skos:exactMatch UMLS:C2239467 Unspecified GAGE2C +OMIM:604579 skos:exactMatch HGNC_symbol:FZD4 Unspecified FZD4 +OMIM:604579 skos:exactMatch UMLS:C1333586 Unspecified FZD4 +OMIM:604579 skos:exactMatch HGNC:4042 Unspecified FZD4 +OMIM:300594 skos:exactMatch HGNC_symbol:GAGE1 Unspecified GAGE1 +OMIM:300594 skos:exactMatch UMLS:C1414930 Unspecified GAGE1 +OMIM:300594 skos:exactMatch HGNC:4098 Unspecified GAGE1 +OMIM:300597 skos:exactMatch HGNC_symbol:GAGE4 Unspecified GAGE4 +OMIM:300597 skos:exactMatch UMLS:C1414933 Unspecified GAGE4 +OMIM:300597 skos:exactMatch HGNC:4101 Unspecified GAGE4 +OMIM:300596 skos:exactMatch UMLS:C1414932 Unspecified GAGE3 +OMIM:300599 skos:exactMatch HGNC:4103 Unspecified GAGE6 +OMIM:300599 skos:exactMatch HGNC_symbol:GAGE6 Unspecified GAGE6 +OMIM:300599 skos:exactMatch UMLS:C1414935 Unspecified GAGE6 +OMIM:300598 skos:exactMatch HGNC_symbol:GAGE5 Unspecified GAGE5 +OMIM:300598 skos:exactMatch UMLS:C1414934 Unspecified GAGE5 +OMIM:300598 skos:exactMatch HGNC:4102 Unspecified GAGE5 +OMIM:616560 skos:exactMatch HGNC:52292 Unspecified None +OMIM:616560 skos:exactMatch UMLS:C4225450 Unspecified None +OMIM:616560 skos:exactMatch HGNC_symbol:CD300H Unspecified None +OMIM:616561 skos:exactMatch HGNC:26129 Unspecified RASAL3 +OMIM:616561 skos:exactMatch UMLS:C2678592 Unspecified RASAL3 +OMIM:616561 skos:exactMatch HGNC_symbol:RASAL3 Unspecified RASAL3 +OMIM:616562 skos:exactMatch UMLS:C4225281 Unspecified retinitis pigmentosa 74 +OMIM:616563 skos:exactMatch HGNC_symbol:SLK Unspecified SLK +OMIM:616563 skos:exactMatch HGNC:11088 Unspecified SLK +OMIM:616563 skos:exactMatch UMLS:C1420246 Unspecified SLK +OMIM:616564 skos:exactMatch UMLS:C4225280 Unspecified noonan syndrome 10 +OMIM:616565 skos:exactMatch HGNC_symbol:ANKRD30B Unspecified ANKRD30B +OMIM:616565 skos:exactMatch HGNC:24165 Unspecified ANKRD30B +OMIM:616565 skos:exactMatch UMLS:C1538288 Unspecified ANKRD30B +OMIM:616566 skos:exactMatch UMLS:C4225279 Unspecified spondylocostal dysostosis 6, autosomal recessive +OMIM:616556 skos:exactMatch UMLS:C1825883 Unspecified LRRC37A2 +OMIM:616556 skos:exactMatch HGNC:32404 Unspecified LRRC37A2 +OMIM:616556 skos:exactMatch HGNC_symbol:LRRC37A2 Unspecified LRRC37A2 +OMIM:616557 skos:exactMatch UMLS:C1825884 Unspecified LRRC37A3 +OMIM:616557 skos:exactMatch HGNC:32427 Unspecified LRRC37A3 +OMIM:616557 skos:exactMatch HGNC_symbol:LRRC37A3 Unspecified LRRC37A3 +OMIM:616558 skos:exactMatch UMLS:C1537613 Unspecified LRRC37B +OMIM:616558 skos:exactMatch HGNC_symbol:LRRC37B Unspecified LRRC37B +OMIM:616558 skos:exactMatch HGNC:29070 Unspecified LRRC37B +OMIM:616559 skos:exactMatch UMLS:C4225282 Unspecified noonan syndrome 9 +OMIM:275100 skos:exactMatch UMLS:C1848794 Unspecified hypothyroidism, congenital, nongoitrous, 4 +OMIM:275100 skos:exactMatch UMLS:C0271789 Unspecified hypothyroidism, congenital, nongoitrous, 4 +OMIM:604581 skos:exactMatch HGNC_symbol:AFG3L2 Unspecified AFG3L2 +OMIM:604581 skos:exactMatch UMLS:C5436534 Unspecified AFG3L2 +OMIM:604581 skos:exactMatch HGNC:315 Unspecified AFG3L2 +OMIM:604581 skos:exactMatch UMLS:C1853249 Unspecified AFG3L2 +OMIM:604581 skos:exactMatch UMLS:C3280977 Unspecified AFG3L2 +OMIM:604581 skos:exactMatch UMLS:C1412274 Unspecified AFG3L2 +OMIM:604580 skos:exactMatch HGNC_symbol:FBLN5 Unspecified FBLN5 +OMIM:604580 skos:exactMatch HGNC:3602 Unspecified FBLN5 +OMIM:604580 skos:exactMatch UMLS:C1414541 Unspecified FBLN5 +OMIM:604583 skos:exactMatch HGNC:8764 Unspecified PDCD5 +OMIM:604583 skos:exactMatch UMLS:C1418405 Unspecified PDCD5 +OMIM:604583 skos:exactMatch HGNC_symbol:PDCD5 Unspecified PDCD5 +OMIM:604582 skos:exactMatch UMLS:C1412314 Unspecified AKAP2 +OMIM:604582 skos:exactMatch UMLS:C1423768 Unspecified AKAP2 +OMIM:604582 skos:exactMatch HGNC_symbol:PALM2AKAP2 Unspecified AKAP2 +OMIM:604582 skos:exactMatch HGNC:33529 Unspecified AKAP2 +OMIM:604585 skos:exactMatch HGNC:11206 Unspecified SP100 +OMIM:604585 skos:exactMatch UMLS:C1420332 Unspecified SP100 +OMIM:604585 skos:exactMatch HGNC_symbol:SP100 Unspecified SP100 +OMIM:604584 skos:exactMatch HGNC:8805 Unspecified PDGFRL +OMIM:604584 skos:exactMatch HGNC_symbol:PDGFRL Unspecified PDGFRL +OMIM:604584 skos:exactMatch UMLS:C1335203 Unspecified PDGFRL +OMIM:192350 skos:exactMatch UMLS:C4225671 Unspecified vater/vacterl association +OMIM:604587 skos:exactMatch HGNC_symbol:CALCOCO2 Unspecified CALCOCO2 +OMIM:604587 skos:exactMatch UMLS:C1824521 Unspecified CALCOCO2 +OMIM:604587 skos:exactMatch HGNC:29912 Unspecified CALCOCO2 +OMIM:604586 skos:exactMatch HGNC_symbol:STXBP5 Unspecified STXBP5 +OMIM:604586 skos:exactMatch HGNC:19665 Unspecified STXBP5 +OMIM:604586 skos:exactMatch UMLS:C1426315 Unspecified STXBP5 +OMIM:604567 skos:exactMatch UMLS:C1414126 Unspecified DOC2A +OMIM:604567 skos:exactMatch HGNC:2985 Unspecified DOC2A +OMIM:604567 skos:exactMatch HGNC_symbol:DOC2A Unspecified DOC2A +OMIM:180381 skos:exactMatch HGNC:10013 Unspecified GRK1 +OMIM:180381 skos:exactMatch HGNC_symbol:GRK1 Unspecified GRK1 +OMIM:180381 skos:exactMatch UMLS:C1335620 Unspecified GRK1 +OMIM:604566 skos:exactMatch UMLS:C1427953 Unspecified ALG6 +OMIM:604566 skos:exactMatch UMLS:C2930997 Unspecified ALG6 +OMIM:604566 skos:exactMatch HGNC_symbol:ALG6 Unspecified ALG6 +OMIM:604566 skos:exactMatch HGNC:23157 Unspecified ALG6 +OMIM:604566 skos:exactMatch UMLS:C4015968 Unspecified ALG6 +OMIM:604569 skos:exactMatch UMLS:C2750246 Unspecified CNTNAP2 +OMIM:604569 skos:exactMatch UMLS:C4552043 Unspecified CNTNAP2 +OMIM:604569 skos:exactMatch HGNC_symbol:CNTNAP2 Unspecified CNTNAP2 +OMIM:604569 skos:exactMatch UMLS:C2677504 Unspecified CNTNAP2 +OMIM:604569 skos:exactMatch HGNC:13830 Unspecified CNTNAP2 +OMIM:604569 skos:exactMatch UMLS:C1422223 Unspecified CNTNAP2 +OMIM:604568 skos:exactMatch UMLS:C1414127 Unspecified DOC2B +OMIM:604568 skos:exactMatch HGNC:2986 Unspecified DOC2B +OMIM:604568 skos:exactMatch HGNC_symbol:DOC2B Unspecified DOC2B +OMIM:180385 skos:exactMatch HGNC_symbol:LMO2 Unspecified LMO2 +OMIM:180385 skos:exactMatch HGNC:6642 Unspecified LMO2 +OMIM:180385 skos:exactMatch UMLS:C0380093 Unspecified LMO2 +OMIM:180386 skos:exactMatch HGNC_symbol:LMO3 Unspecified LMO3 +OMIM:180386 skos:exactMatch HGNC:6643 Unspecified LMO3 +OMIM:180386 skos:exactMatch UMLS:C1416882 Unspecified LMO3 +OMIM:616550 skos:exactMatch UMLS:C2240087 Unspecified TMEM120A +OMIM:616550 skos:exactMatch HGNC_symbol:TMEM120A Unspecified TMEM120A +OMIM:616550 skos:exactMatch HGNC:21697 Unspecified TMEM120A +OMIM:616551 skos:exactMatch UMLS:C2240088 Unspecified TMEM120B +OMIM:616551 skos:exactMatch HGNC_symbol:TMEM120B Unspecified TMEM120B +OMIM:616551 skos:exactMatch HGNC:32008 Unspecified TMEM120B +OMIM:616552 skos:exactMatch HGNC:23435 Unspecified CARNMT1 +OMIM:616552 skos:exactMatch UMLS:C1428084 Unspecified CARNMT1 +OMIM:616552 skos:exactMatch HGNC_symbol:CARNMT1 Unspecified CARNMT1 +OMIM:616553 skos:exactMatch UMLS:C4225284 Unspecified dyskeratosis congenita, autosomal dominant 6 +OMIM:616553 skos:exactMatch UMLS:C4225283 Unspecified dyskeratosis congenita, autosomal dominant 6 +OMIM:616554 skos:exactMatch HGNC:26620 Unspecified SPAG17 +OMIM:616554 skos:exactMatch HGNC_symbol:SPAG17 Unspecified SPAG17 +OMIM:616554 skos:exactMatch UMLS:C1823083 Unspecified SPAG17 +OMIM:180380 skos:exactMatch HGNC_symbol:RHO Unspecified RHO +OMIM:180380 skos:exactMatch UMLS:C1419385 Unspecified RHO +OMIM:180380 skos:exactMatch HGNC:10012 Unspecified RHO +OMIM:616555 skos:exactMatch UMLS:C1537612 Unspecified LRRC37A +OMIM:616555 skos:exactMatch HGNC:29069 Unspecified LRRC37A +OMIM:616555 skos:exactMatch HGNC_symbol:LRRC37A Unspecified LRRC37A +OMIM:616545 skos:exactMatch HGNC_symbol:PRELID3A Unspecified PRELID3A +OMIM:616545 skos:exactMatch HGNC:24639 Unspecified PRELID3A +OMIM:616545 skos:exactMatch UMLS:C1540274 Unspecified PRELID3A +OMIM:616546 skos:exactMatch UMLS:C4225286 Unspecified short-rib thoracic dysplasia 14 with polydactyly +OMIM:616547 skos:exactMatch HGNC:29615 Unspecified LYG2 +OMIM:616547 skos:exactMatch UMLS:C2239663 Unspecified LYG2 +OMIM:616547 skos:exactMatch HGNC_symbol:LYG2 Unspecified LYG2 +OMIM:616548 skos:exactMatch HGNC:20440 Unspecified LYPLAL1 +OMIM:616548 skos:exactMatch UMLS:C1426938 Unspecified LYPLAL1 +OMIM:616548 skos:exactMatch HGNC_symbol:LYPLAL1 Unspecified LYPLAL1 +OMIM:616549 skos:exactMatch UMLS:C4225285 Unspecified klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism +OMIM:604570 skos:exactMatch UMLS:C1822721 Unspecified SHROOM3 +OMIM:604570 skos:exactMatch HGNC:30422 Unspecified SHROOM3 +OMIM:604570 skos:exactMatch HGNC_symbol:SHROOM3 Unspecified SHROOM3 +OMIM:604572 skos:exactMatch HGNC:5270 Unspecified DNAJB1 +OMIM:604572 skos:exactMatch HGNC_symbol:DNAJB1 Unspecified DNAJB1 +OMIM:604572 skos:exactMatch UMLS:C1415791 Unspecified DNAJB1 +OMIM:604572 skos:exactMatch UMLS:C3807366 Unspecified DNAJB1 +OMIM:604571 skos:exactMatch UMLS:C1858266 Unspecified bare lymphocyte syndrome, iia 1 +OMIM:604574 skos:exactMatch UMLS:C1413032 Unspecified FRRS1L +OMIM:604574 skos:exactMatch UMLS:C4310770 Unspecified FRRS1L +OMIM:604574 skos:exactMatch HGNC_symbol:FRRS1L Unspecified FRRS1L +OMIM:604574 skos:exactMatch HGNC:1362 Unspecified FRRS1L +OMIM:604573 skos:exactMatch UMLS:C1412885 Unspecified ATP5MPL +OMIM:604573 skos:exactMatch HGNC_symbol:ATP5MJ Unspecified ATP5MPL +OMIM:604573 skos:exactMatch HGNC:1188 Unspecified ATP5MPL +OMIM:604576 skos:exactMatch HGNC_symbol:ERG28 Unspecified ERG28 +OMIM:604576 skos:exactMatch UMLS:C1412884 Unspecified ERG28 +OMIM:604576 skos:exactMatch HGNC:1187 Unspecified ERG28 +OMIM:604575 skos:exactMatch HGNC_symbol:ZNHIT2 Unspecified ZNHIT2 +OMIM:604575 skos:exactMatch UMLS:C1538248 Unspecified ZNHIT2 +OMIM:604575 skos:exactMatch HGNC:1177 Unspecified ZNHIT2 +OMIM:604556 skos:exactMatch HGNC_symbol:DYRK1B Unspecified DYRK1B +OMIM:604556 skos:exactMatch UMLS:C1414205 Unspecified DYRK1B +OMIM:604556 skos:exactMatch HGNC:3092 Unspecified DYRK1B +OMIM:300570 skos:exactMatch HGNC_symbol:YY2 Unspecified YY2 +OMIM:300570 skos:exactMatch HGNC:31684 Unspecified YY2 +OMIM:300570 skos:exactMatch UMLS:C1538139 Unspecified YY2 +OMIM:604555 skos:exactMatch HGNC:1749 Unspecified CDH10 +OMIM:604555 skos:exactMatch UMLS:C1413268 Unspecified CDH10 +OMIM:604555 skos:exactMatch HGNC_symbol:CDH10 Unspecified CDH10 +OMIM:180350 skos:exactMatch UMLS:C0035450 Unspecified rheumatoid nodulosis +OMIM:604558 skos:exactMatch UMLS:C1415846 Unspecified ICOS +OMIM:604558 skos:exactMatch HGNC_symbol:ICOS Unspecified ICOS +OMIM:604558 skos:exactMatch HGNC:5351 Unspecified ICOS +OMIM:300573 skos:exactMatch HGNC_symbol:ZNF674 Unspecified ZNF674 +OMIM:300573 skos:exactMatch HGNC:17625 Unspecified ZNF674 +OMIM:300573 skos:exactMatch UMLS:C1823987 Unspecified ZNF674 +OMIM:300572 skos:exactMatch HGNC:4516 Unspecified ADGRG2 +OMIM:300572 skos:exactMatch HGNC_symbol:ADGRG2 Unspecified ADGRG2 +OMIM:300572 skos:exactMatch UMLS:C1415250 Unspecified ADGRG2 +OMIM:604557 skos:exactMatch HGNC_symbol:ZNF423 Unspecified ZNF423 +OMIM:604557 skos:exactMatch HGNC:16762 Unspecified ZNF423 +OMIM:604557 skos:exactMatch UMLS:C1424525 Unspecified ZNF423 +OMIM:300575 skos:exactMatch HGNC:25117 Unspecified RIPPLY1 +OMIM:300575 skos:exactMatch UMLS:C1845143 Unspecified RIPPLY1 +OMIM:300575 skos:exactMatch HGNC_symbol:RIPPLY1 Unspecified RIPPLY1 +OMIM:300574 skos:exactMatch UMLS:C1332822 Unspecified CXCR3 +OMIM:300574 skos:exactMatch HGNC:4540 Unspecified CXCR3 +OMIM:300574 skos:exactMatch HGNC_symbol:CXCR3 Unspecified CXCR3 +OMIM:604559 skos:exactMatch UMLS:C1970298 Unspecified progressive familial heart block, iia 1b +OMIM:263100 skos:exactMatch UMLS:C1849771 Unspecified polycystic kidney, cataract, and congenital blindness +OMIM:300577 skos:exactMatch UMLS:C1845142 Unspecified mental retardation, X-linked 91 +OMIM:300576 skos:exactMatch HGNC:20342 Unspecified ZDHHC15 +OMIM:300576 skos:exactMatch UMLS:C1426876 Unspecified ZDHHC15 +OMIM:300576 skos:exactMatch HGNC_symbol:ZDHHC15 Unspecified ZDHHC15 +OMIM:300579 skos:exactMatch HGNC_symbol:SHROOM4 Unspecified SHROOM4 +OMIM:300579 skos:exactMatch HGNC:29215 Unspecified SHROOM4 +OMIM:300579 skos:exactMatch UMLS:C1822722 Unspecified SHROOM4 +OMIM:300578 skos:exactMatch UMLS:C1845136 Unspecified chromosome xp11.3 deletion syndrome +OMIM:616540 skos:exactMatch UMLS:C4225289 Unspecified epilepsy, progressive myoclonic, 9 +OMIM:616541 skos:exactMatch UMLS:C4225288 Unspecified short stature, microcephaly, and endocrine dysfunction +OMIM:616542 skos:exactMatch HGNC_symbol:GSX1 Unspecified GSX1 +OMIM:616542 skos:exactMatch HGNC:20374 Unspecified GSX1 +OMIM:616542 skos:exactMatch UMLS:C1426902 Unspecified GSX1 +OMIM:616543 skos:exactMatch HGNC:13261 Unspecified CST9 +OMIM:616543 skos:exactMatch UMLS:C1539143 Unspecified CST9 +OMIM:616543 skos:exactMatch HGNC_symbol:CST9 Unspecified CST9 +OMIM:616544 skos:exactMatch UMLS:C4225287 Unspecified retinitis pigmentosa 73 +OMIM:616534 skos:exactMatch UMLS:C4225293 Unspecified thyroid cancer, nonmedullary, 4 +OMIM:312550 skos:exactMatch UMLS:C3887971 Unspecified retinal dysplasia, primary +OMIM:616535 skos:exactMatch UMLS:C4225292 Unspecified thyroid cancer, nonmedullary, 5 +OMIM:616536 skos:exactMatch HGNC_symbol:CST9L Unspecified CST9L +OMIM:616536 skos:exactMatch HGNC:16233 Unspecified CST9L +OMIM:616536 skos:exactMatch UMLS:C1424109 Unspecified CST9L +OMIM:616537 skos:exactMatch HGNC_symbol:VSTM2L Unspecified VSTM2L +OMIM:616537 skos:exactMatch HGNC:16096 Unspecified VSTM2L +OMIM:616537 skos:exactMatch UMLS:C1423977 Unspecified VSTM2L +OMIM:251110 skos:exactMatch UMLS:C1855102 Unspecified methylmalonic aciduria, cblb iia +OMIM:616538 skos:exactMatch UMLS:C4225291 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 9 +OMIM:277740 skos:exactMatch UMLS:C1848463 Unspecified white forelock with malformations +OMIM:616539 skos:exactMatch UMLS:C4225290 Unspecified combined oxidative phosphorylation deficiency 26 +OMIM:604561 skos:exactMatch HGNC_symbol:MGAT4B Unspecified MGAT4B +OMIM:604561 skos:exactMatch HGNC:7048 Unspecified MGAT4B +OMIM:604561 skos:exactMatch UMLS:C1417137 Unspecified MGAT4B +OMIM:604563 skos:exactMatch UMLS:C1858278 Unspecified charcot-marie-tooth disease, iia 4b2 +OMIM:604563 skos:exactMatch ORPHA:99956 Unspecified charcot-marie-tooth disease, iia 4b2 +OMIM:604562 skos:exactMatch UMLS:C1442495 Unspecified ACIN1 +OMIM:604562 skos:exactMatch HGNC:17066 Unspecified ACIN1 +OMIM:604562 skos:exactMatch HGNC_symbol:ACIN1 Unspecified ACIN1 +OMIM:604565 skos:exactMatch HGNC:20266 Unspecified ALG5 +OMIM:604565 skos:exactMatch UMLS:C1426822 Unspecified ALG5 +OMIM:604565 skos:exactMatch HGNC_symbol:ALG5 Unspecified ALG5 +OMIM:300580 skos:exactMatch UMLS:C2749128 Unspecified myopathy, congenital, with fiber-type disproportion, X-linked +OMIM:604564 skos:exactMatch HGNC:7064 Unspecified MGST3 +OMIM:604564 skos:exactMatch HGNC_symbol:MGST3 Unspecified MGST3 +OMIM:604564 skos:exactMatch UMLS:C1417147 Unspecified MGST3 +OMIM:300582 skos:exactMatch UMLS:C1845118 Unspecified short stature, idiopathic, X-linked +OMIM:604545 skos:exactMatch UMLS:C1416703 Unspecified KPNA5 +OMIM:604545 skos:exactMatch HGNC:6398 Unspecified KPNA5 +OMIM:604545 skos:exactMatch HGNC_symbol:KPNA5 Unspecified KPNA5 +OMIM:604544 skos:exactMatch HGNC:17095 Unspecified LARS2 +OMIM:604544 skos:exactMatch UMLS:C1424741 Unspecified LARS2 +OMIM:604544 skos:exactMatch HGNC_symbol:LARS2 Unspecified LARS2 +OMIM:300581 skos:exactMatch UMLS:C1845119 Unspecified fg syndrome 5 +OMIM:180360 skos:exactMatch UMLS:C1867222 Unspecified rhiny +OMIM:604547 skos:exactMatch UMLS:C1858298 Unspecified van der woude syndrome 1, modifier of +OMIM:300583 skos:exactMatch HGNC_symbol:VGLL1 Unspecified VGLL1 +OMIM:300583 skos:exactMatch UMLS:C1427223 Unspecified VGLL1 +OMIM:300583 skos:exactMatch HGNC:20985 Unspecified VGLL1 +OMIM:604546 skos:exactMatch UMLS:C1417712 Unspecified TONSL +OMIM:604546 skos:exactMatch HGNC_symbol:TONSL Unspecified TONSL +OMIM:604546 skos:exactMatch HGNC:7801 Unspecified TONSL +OMIM:300586 skos:exactMatch HGNC_symbol:ARSH Unspecified ARSH +OMIM:300586 skos:exactMatch UMLS:C1825083 Unspecified ARSH +OMIM:300586 skos:exactMatch HGNC:32488 Unspecified ARSH +OMIM:300585 skos:exactMatch HGNC:26007 Unspecified ZNF673 +OMIM:300585 skos:exactMatch HGNC_symbol:KRBOX4 Unspecified ZNF673 +OMIM:300585 skos:exactMatch UMLS:C1538237 Unspecified ZNF673 +OMIM:604548 skos:exactMatch UMLS:C1417710 Unspecified NFKBIE +OMIM:604548 skos:exactMatch HGNC:7799 Unspecified NFKBIE +OMIM:604548 skos:exactMatch HGNC_symbol:NFKBIE Unspecified NFKBIE +OMIM:300588 skos:exactMatch HGNC_symbol:TENM1 Unspecified TENM1 +OMIM:300588 skos:exactMatch UMLS:C1417938 Unspecified TENM1 +OMIM:300588 skos:exactMatch HGNC:8117 Unspecified TENM1 +OMIM:300587 skos:exactMatch HGNC:23357 Unspecified MCTS1 +OMIM:300587 skos:exactMatch HGNC_symbol:MCTS1 Unspecified MCTS1 +OMIM:300587 skos:exactMatch UMLS:C1428048 Unspecified MCTS1 +OMIM:300589 skos:exactMatch UMLS:C1845116 Unspecified nystagmus 5, congenital, X-linked +OMIM:616530 skos:exactMatch UMLS:C1538131 Unspecified YTHDC2 +OMIM:616530 skos:exactMatch HGNC_symbol:YTHDC2 Unspecified YTHDC2 +OMIM:616530 skos:exactMatch HGNC:24721 Unspecified YTHDC2 +OMIM:616531 skos:exactMatch UMLS:C4225295 Unspecified neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities +OMIM:616532 skos:exactMatch UMLS:C4225294 Unspecified encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 +OMIM:616533 skos:exactMatch HGNC_symbol:DDX31 Unspecified DDX31 +OMIM:616533 skos:exactMatch HGNC:16715 Unspecified DDX31 +OMIM:616533 skos:exactMatch UMLS:C1424501 Unspecified DDX31 +OMIM:616523 skos:exactMatch UMLS:C1537690 Unspecified MFAP3L +OMIM:616523 skos:exactMatch HGNC_symbol:MFAP3L Unspecified MFAP3L +OMIM:616523 skos:exactMatch HGNC:29083 Unspecified MFAP3L +OMIM:616524 skos:exactMatch HGNC:22058 Unspecified TMEM139 +OMIM:616524 skos:exactMatch UMLS:C1823402 Unspecified TMEM139 +OMIM:616524 skos:exactMatch HGNC_symbol:TMEM139 Unspecified TMEM139 +OMIM:616525 skos:exactMatch HGNC:28237 Unspecified SLC38A10 +OMIM:616525 skos:exactMatch HGNC_symbol:SLC38A10 Unspecified SLC38A10 +OMIM:616525 skos:exactMatch UMLS:C2239933 Unspecified SLC38A10 +OMIM:616526 skos:exactMatch HGNC_symbol:SLC38A11 Unspecified SLC38A11 +OMIM:616526 skos:exactMatch HGNC:26836 Unspecified SLC38A11 +OMIM:616526 skos:exactMatch UMLS:C2239934 Unspecified SLC38A11 +OMIM:616527 skos:exactMatch HGNC:29574 Unspecified SFR1 +OMIM:616527 skos:exactMatch UMLS:C3469710 Unspecified SFR1 +OMIM:616527 skos:exactMatch HGNC_symbol:SFR1 Unspecified SFR1 +OMIM:616528 skos:exactMatch HGNC_symbol:SWI5 Unspecified SWI5 +OMIM:616528 skos:exactMatch HGNC:31412 Unspecified SWI5 +OMIM:616528 skos:exactMatch UMLS:C3469945 Unspecified SWI5 +OMIM:277730 skos:exactMatch UMLS:C0349464 Unspecified wernicke-korsakoff syndrome +OMIM:251120 skos:exactMatch UMLS:C1855100 Unspecified methylmalonyl-coa epimerase deficiency +OMIM:251120 skos:exactMatch UMLS:C1855101 Unspecified methylmalonyl-coa epimerase deficiency +OMIM:616529 skos:exactMatch HGNC_symbol:YTHDF1 Unspecified YTHDF1 +OMIM:616529 skos:exactMatch UMLS:C1538132 Unspecified YTHDF1 +OMIM:616529 skos:exactMatch HGNC:15867 Unspecified YTHDF1 +OMIM:604550 skos:exactMatch HGNC:2769 Unspecified DENR +OMIM:604550 skos:exactMatch UMLS:C1413979 Unspecified DENR +OMIM:604550 skos:exactMatch HGNC_symbol:DENR Unspecified DENR +OMIM:604552 skos:exactMatch UMLS:C1415534 Unspecified HGFAC +OMIM:604552 skos:exactMatch HGNC_symbol:HGFAC Unspecified HGFAC +OMIM:604552 skos:exactMatch HGNC:4894 Unspecified HGFAC +OMIM:192340 skos:exactMatch UMLS:C1366535 Unspecified AVP +OMIM:192340 skos:exactMatch HGNC:894 Unspecified AVP +OMIM:192340 skos:exactMatch HGNC_symbol:AVP Unspecified AVP +OMIM:604551 skos:exactMatch UMLS:C1413371 Unspecified CH25H +OMIM:604551 skos:exactMatch HGNC:1907 Unspecified CH25H +OMIM:604551 skos:exactMatch HGNC_symbol:CH25H Unspecified CH25H +OMIM:300591 skos:exactMatch UMLS:C1845115 Unspecified stature quantitative trait locus 6 +OMIM:604554 skos:exactMatch UMLS:C1415751 Unspecified HSF2BP +OMIM:604554 skos:exactMatch HGNC_symbol:HSF2BP Unspecified HSF2BP +OMIM:604554 skos:exactMatch HGNC:5226 Unspecified HSF2BP +OMIM:300590 skos:exactMatch ORPHA:199 Unspecified cornelia lange lange syndrome 2 +OMIM:300590 skos:exactMatch UMLS:C1802395 Unspecified cornelia lange lange syndrome 2 +OMIM:604553 skos:exactMatch UMLS:C1415735 Unspecified HSBP1 +OMIM:604553 skos:exactMatch HGNC:5203 Unspecified HSBP1 +OMIM:604553 skos:exactMatch HGNC_symbol:HSBP1 Unspecified HSBP1 +OMIM:179060 skos:exactMatch UMLS:C1418439 Unspecified PDHB +OMIM:179060 skos:exactMatch UMLS:C3279841 Unspecified PDHB +OMIM:179060 skos:exactMatch HGNC:8808 Unspecified PDHB +OMIM:179060 skos:exactMatch HGNC_symbol:PDHB Unspecified PDHB +OMIM:179061 skos:exactMatch UMLS:C1418438 Unspecified PDHA2 +OMIM:179061 skos:exactMatch HGNC_symbol:PDHA2 Unspecified PDHA2 +OMIM:179061 skos:exactMatch HGNC:8807 Unspecified PDHA2 +OMIM:265500 skos:exactMatch UMLS:C1956257 Unspecified pulmonic stenosis +OMIM:241530 skos:exactMatch UMLS:C1853271 Unspecified hypophosphatemic rickets with hypercalciuria, hereditary +OMIM:180050 skos:exactMatch UMLS:C0035305 Unspecified retinal detachment +OMIM:614059 skos:exactMatch HGNC:31775 Unspecified MIR338 +OMIM:614059 skos:exactMatch HGNC_symbol:MIR338 Unspecified MIR338 +OMIM:614059 skos:exactMatch UMLS:C1537881 Unspecified MIR338 +OMIM:614069 skos:exactMatch UMLS:C3279748 Unspecified immunodeficiency-centromeric instability-facial anomalies syndrome 2 +OMIM:228560 skos:exactMatch UMLS:C1856761 Unspecified fibromatosis, gingival, with distinctive facies +OMIM:614068 skos:exactMatch UMLS:C1824395 Unspecified IFT43 +OMIM:614068 skos:exactMatch HGNC:29669 Unspecified IFT43 +OMIM:614068 skos:exactMatch HGNC_symbol:IFT43 Unspecified IFT43 +OMIM:614067 skos:exactMatch UMLS:C3279743 Unspecified spastic paraplegia 52, autosomal recessive +OMIM:614066 skos:exactMatch UMLS:C3279738 Unspecified spastic paraplegia 47, autosomal recessive +OMIM:614066 skos:exactMatch ORPHA:280763 Unspecified spastic paraplegia 47, autosomal recessive +OMIM:614065 skos:exactMatch UMLS:C3279722 Unspecified myopathy, distal, 4 +OMIM:614064 skos:exactMatch UMLS:C1538151 Unspecified ZBTB24 +OMIM:614064 skos:exactMatch HGNC:21143 Unspecified ZBTB24 +OMIM:614064 skos:exactMatch HGNC_symbol:ZBTB24 Unspecified ZBTB24 +OMIM:602080 skos:exactMatch UMLS:C4085251 Unspecified paget disease of bone 2, early-onset +OMIM:602081 skos:exactMatch ORPHA:209908 Unspecified speech-language disorder 1 +OMIM:602081 skos:exactMatch UMLS:C0750927 Unspecified speech-language disorder 1 +OMIM:614063 skos:exactMatch UMLS:C3279716 Unspecified n-acetylaspartate deficiency +OMIM:602082 skos:exactMatch UMLS:C1562894 Unspecified corneal dystrophy, thiel-behnke iia +OMIM:614062 skos:exactMatch HGNC:1738 Unspecified CDC42BPB +OMIM:614062 skos:exactMatch UMLS:C1413265 Unspecified CDC42BPB +OMIM:614062 skos:exactMatch HGNC_symbol:CDC42BPB Unspecified CDC42BPB +OMIM:614061 skos:exactMatch UMLS:C1538532 Unspecified OLFM4 +OMIM:614061 skos:exactMatch HGNC:17190 Unspecified OLFM4 +OMIM:614061 skos:exactMatch HGNC_symbol:OLFM4 Unspecified OLFM4 +OMIM:602083 skos:exactMatch UMLS:C1865885 Unspecified usher syndrome, iia 1f +OMIM:614060 skos:exactMatch UMLS:C2829932 Unspecified HOTTIP +OMIM:614060 skos:exactMatch HGNC_symbol:HOTTIP Unspecified HOTTIP +OMIM:614060 skos:exactMatch HGNC:37461 Unspecified HOTTIP +OMIM:602085 skos:exactMatch UMLS:C1865883 Unspecified polydactyly, postaxial, iia a2 +OMIM:602086 skos:exactMatch UMLS:C1865882 Unspecified arrhythmogenic right ventricular dysplasia, familial, 3 +OMIM:602087 skos:exactMatch UMLS:C1865881 Unspecified arrhythmogenic right ventricular dysplasia, familial, 4 +OMIM:602088 skos:exactMatch UMLS:C1865872 Unspecified nephronophthisis 2 +OMIM:602089 skos:exactMatch UMLS:C1865871 Unspecified hemangioma, capillary infantile +OMIM:602069 skos:exactMatch UMLS:C1334905 Unspecified NRP1 +OMIM:602069 skos:exactMatch HGNC:8004 Unspecified NRP1 +OMIM:602069 skos:exactMatch HGNC_symbol:NRP1 Unspecified NRP1 +OMIM:241540 skos:exactMatch UMLS:C1855800 Unspecified hypopituitarism, congenital, with central diabetes insipidus +OMIM:179050 skos:exactMatch UMLS:C1418610 Unspecified PKM +OMIM:179050 skos:exactMatch HGNC:9021 Unspecified PKM +OMIM:179050 skos:exactMatch HGNC_symbol:PKM Unspecified PKM +OMIM:180069 skos:exactMatch UMLS:C4015968 Unspecified RPE65 +OMIM:180069 skos:exactMatch HGNC_symbol:RPE65 Unspecified RPE65 +OMIM:180069 skos:exactMatch UMLS:C1859844 Unspecified RPE65 +OMIM:180069 skos:exactMatch UMLS:C5231465 Unspecified RPE65 +OMIM:180069 skos:exactMatch UMLS:C3151086 Unspecified RPE65 +OMIM:180069 skos:exactMatch UMLS:C1419622 Unspecified RPE65 +OMIM:180069 skos:exactMatch HGNC:10294 Unspecified RPE65 +OMIM:614049 skos:exactMatch UMLS:C3279693 Unspecified atrial fibrillation, familial, 11 +OMIM:614048 skos:exactMatch HGNC:21945 Unspecified ELAPOR2 +OMIM:614048 skos:exactMatch HGNC_symbol:ELAPOR2 Unspecified ELAPOR2 +OMIM:614048 skos:exactMatch UMLS:C1825685 Unspecified ELAPOR2 +OMIM:614058 skos:exactMatch HGNC_symbol:KHK Unspecified KHK +OMIM:614058 skos:exactMatch HGNC:6315 Unspecified KHK +OMIM:614058 skos:exactMatch UMLS:C1416630 Unspecified KHK +OMIM:614057 skos:exactMatch UMLS:C1826017 Unspecified MIR409 +OMIM:614057 skos:exactMatch HGNC_symbol:MIR409 Unspecified MIR409 +OMIM:614057 skos:exactMatch HGNC:32055 Unspecified MIR409 +OMIM:228550 skos:exactMatch ORPHA:2591 Unspecified myofibromatosis, infantile, 1 +OMIM:228550 skos:exactMatch UMLS:C0432284 Unspecified myofibromatosis, infantile, 1 +OMIM:228550 skos:exactMatch UMLS:C4551572 Unspecified myofibromatosis, infantile, 1 +OMIM:614056 skos:exactMatch HGNC_symbol:PPP1R26 Unspecified PPP1R26 +OMIM:614056 skos:exactMatch HGNC:29089 Unspecified PPP1R26 +OMIM:614056 skos:exactMatch UMLS:C1428787 Unspecified PPP1R26 +OMIM:614055 skos:exactMatch UMLS:C0342735 Unspecified acetyl-coa acetyltransferase-2 deficiency +OMIM:614054 skos:exactMatch UMLS:C1825155 Unspecified RIMKLB +OMIM:614054 skos:exactMatch HGNC:29228 Unspecified RIMKLB +OMIM:614054 skos:exactMatch HGNC_symbol:RIMKLB Unspecified RIMKLB +OMIM:614053 skos:exactMatch UMLS:C3279708 Unspecified mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 +OMIM:614053 skos:exactMatch ORPHA:254913 Unspecified mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3 +OMIM:602070 skos:exactMatch UMLS:C1417850 Unspecified NRP2 +OMIM:602070 skos:exactMatch HGNC:8005 Unspecified NRP2 +OMIM:602070 skos:exactMatch HGNC_symbol:NRP2 Unspecified NRP2 +OMIM:614052 skos:exactMatch ORPHA:1194 Unspecified mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 +OMIM:614052 skos:exactMatch UMLS:C3279699 Unspecified mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2 +OMIM:602071 skos:exactMatch UMLS:C1865923 Unspecified broad terminal phalanges, familial +OMIM:614050 skos:exactMatch UMLS:C3279695 Unspecified atrial fibrillation, familial, 12 +OMIM:602072 skos:exactMatch HGNC:2277 Unspecified COX6A1 +OMIM:602072 skos:exactMatch HGNC_symbol:COX6A1 Unspecified COX6A1 +OMIM:602072 skos:exactMatch UMLS:C1413646 Unspecified COX6A1 +OMIM:602074 skos:exactMatch HGNC_symbol:DAP3 Unspecified DAP3 +OMIM:602074 skos:exactMatch HGNC:2673 Unspecified DAP3 +OMIM:602074 skos:exactMatch UMLS:C1413905 Unspecified DAP3 +OMIM:602075 skos:exactMatch UMLS:C1419822 Unspecified SATB1 +OMIM:602075 skos:exactMatch HGNC:10541 Unspecified SATB1 +OMIM:602075 skos:exactMatch HGNC_symbol:SATB1 Unspecified SATB1 +OMIM:602076 skos:exactMatch HGNC:12716 Unspecified TRPV1 +OMIM:602076 skos:exactMatch UMLS:C1421467 Unspecified TRPV1 +OMIM:602076 skos:exactMatch HGNC_symbol:TRPV1 Unspecified TRPV1 +OMIM:602078 skos:exactMatch UMLS:C1865915 Unspecified fibrosis of extraocular muscles, congenital, 2 +OMIM:602079 skos:exactMatch ORPHA:468726 Unspecified trimethylaminuria +OMIM:602079 skos:exactMatch UMLS:C0342739 Unspecified trimethylaminuria +OMIM:602058 skos:exactMatch HGNC:8942 Unspecified PI10 +OMIM:602058 skos:exactMatch UMLS:C1418545 Unspecified PI10 +OMIM:602058 skos:exactMatch HGNC_symbol:SERPINB10 Unspecified PI10 +OMIM:602059 skos:exactMatch HGNC:6133 Unspecified ISLR +OMIM:602059 skos:exactMatch HGNC_symbol:ISLR Unspecified ISLR +OMIM:602059 skos:exactMatch UMLS:C1416481 Unspecified ISLR +OMIM:179080 skos:exactMatch HGNC_symbol:RABGGTB Unspecified RABGGTB +OMIM:179080 skos:exactMatch HGNC:9796 Unspecified RABGGTB +OMIM:179080 skos:exactMatch UMLS:C1419223 Unspecified RABGGTB +OMIM:614039 skos:exactMatch UMLS:C3808397 Unspecified cortical dysplasia, complex, with other brain malformations 1 +OMIM:614038 skos:exactMatch UMLS:C3279664 Unspecified lymphedema, primary, with myelodysplasia +OMIM:182690 skos:exactMatch UMLS:C1866853 Unspecified spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy +OMIM:241510 skos:exactMatch UMLS:C0220743 Unspecified hypophosphatasia, childhood +OMIM:614037 skos:exactMatch UMLS:C3279662 Unspecified leukotriene c4 synthase deficiency +OMIM:616699 skos:exactMatch HGNC_symbol:COMMD2 Unspecified COMMD2 +OMIM:616699 skos:exactMatch HGNC:24993 Unspecified COMMD2 +OMIM:616699 skos:exactMatch UMLS:C1428436 Unspecified COMMD2 +OMIM:614047 skos:exactMatch HGNC:31865 Unspecified MTHFD2L +OMIM:614047 skos:exactMatch UMLS:C1538021 Unspecified MTHFD2L +OMIM:614047 skos:exactMatch HGNC_symbol:MTHFD2L Unspecified MTHFD2L +OMIM:614046 skos:exactMatch HGNC:25482 Unspecified ARGLU1 +OMIM:614046 skos:exactMatch UMLS:C2239821 Unspecified ARGLU1 +OMIM:614046 skos:exactMatch HGNC_symbol:ARGLU1 Unspecified ARGLU1 +OMIM:614045 skos:exactMatch HGNC:25282 Unspecified FAM129B +OMIM:614045 skos:exactMatch HGNC_symbol:NIBAN2 Unspecified FAM129B +OMIM:614045 skos:exactMatch UMLS:C1825276 Unspecified FAM129B +OMIM:614044 skos:exactMatch UMLS:C0268417 Unspecified trypsinogen deficiency +OMIM:614043 skos:exactMatch HGNC:6703 Unspecified LRRFIP2 +OMIM:614043 skos:exactMatch UMLS:C1416922 Unspecified LRRFIP2 +OMIM:614043 skos:exactMatch HGNC_symbol:LRRFIP2 Unspecified LRRFIP2 +OMIM:614042 skos:exactMatch UMLS:C3279690 Unspecified moyamoya disease 5 +OMIM:614041 skos:exactMatch UMLS:C4017354 Unspecified RB1 +OMIM:614041 skos:exactMatch UMLS:C4017355 Unspecified RB1 +OMIM:614041 skos:exactMatch UMLS:C0694889 Unspecified RB1 +OMIM:614041 skos:exactMatch HGNC_symbol:RB1 Unspecified RB1 +OMIM:614041 skos:exactMatch UMLS:C0035335 Unspecified RB1 +OMIM:614041 skos:exactMatch UMLS:C2608045 Unspecified RB1 +OMIM:614041 skos:exactMatch UMLS:C1851162 Unspecified RB1 +OMIM:614041 skos:exactMatch HGNC:9884 Unspecified RB1 +OMIM:241519 skos:exactMatch UMLS:C1855809 Unspecified hypophosphatemia, renal, with intracerebral calcifications +OMIM:602060 skos:exactMatch HGNC:11876 Unspecified TMPRSS2 +OMIM:602060 skos:exactMatch HGNC_symbol:TMPRSS2 Unspecified TMPRSS2 +OMIM:602060 skos:exactMatch UMLS:C1336641 Unspecified TMPRSS2 +OMIM:614040 skos:exactMatch UMLS:C1538188 Unspecified ZNF467 +OMIM:614040 skos:exactMatch HGNC:23154 Unspecified ZNF467 +OMIM:614040 skos:exactMatch HGNC_symbol:ZNF467 Unspecified ZNF467 +OMIM:602061 skos:exactMatch HGNC:3443 Unspecified EREG +OMIM:602061 skos:exactMatch UMLS:C1366644 Unspecified EREG +OMIM:602061 skos:exactMatch HGNC_symbol:EREG Unspecified EREG +OMIM:602062 skos:exactMatch HGNC:7824 Unspecified NINJ1 +OMIM:602062 skos:exactMatch UMLS:C1417728 Unspecified NINJ1 +OMIM:602062 skos:exactMatch HGNC_symbol:NINJ1 Unspecified NINJ1 +OMIM:602063 skos:exactMatch HGNC_symbol:TALDO1 Unspecified TALDO1 +OMIM:602063 skos:exactMatch HGNC:11559 Unspecified TALDO1 +OMIM:602063 skos:exactMatch UMLS:C1420580 Unspecified TALDO1 +OMIM:602063 skos:exactMatch UMLS:C1291329 Unspecified TALDO1 +OMIM:602064 skos:exactMatch HGNC_symbol:IMPA1 Unspecified IMPA1 +OMIM:602064 skos:exactMatch HGNC:6050 Unspecified IMPA1 +OMIM:602064 skos:exactMatch UMLS:C1416425 Unspecified IMPA1 +OMIM:602065 skos:exactMatch UMLS:C1412217 Unspecified ADARB2 +OMIM:602065 skos:exactMatch HGNC_symbol:ADARB2 Unspecified ADARB2 +OMIM:602065 skos:exactMatch HGNC:227 Unspecified ADARB2 +OMIM:602066 skos:exactMatch UMLS:C1865926 Unspecified convulsions, familial infantile, with paroxysmal choreoathetosis +OMIM:602068 skos:exactMatch UMLS:C2748501 Unspecified leishmaniasis, tegumentary, susceptibility to +OMIM:180040 skos:exactMatch HGNC:19689 Unspecified RD3 +OMIM:180040 skos:exactMatch UMLS:C1826790 Unspecified RD3 +OMIM:180040 skos:exactMatch HGNC_symbol:RD3 Unspecified RD3 +OMIM:602047 skos:exactMatch HGNC_symbol:PDE3B Unspecified PDE3B +OMIM:602047 skos:exactMatch HGNC:8779 Unspecified PDE3B +OMIM:602047 skos:exactMatch UMLS:C1418419 Unspecified PDE3B +OMIM:602048 skos:exactMatch HGNC_symbol:RAC1 Unspecified RAC1 +OMIM:602048 skos:exactMatch HGNC:9801 Unspecified RAC1 +OMIM:602048 skos:exactMatch UMLS:C1419227 Unspecified RAC1 +OMIM:602049 skos:exactMatch HGNC_symbol:RAC2 Unspecified RAC2 +OMIM:602049 skos:exactMatch HGNC:9802 Unspecified RAC2 +OMIM:602049 skos:exactMatch UMLS:C1419228 Unspecified RAC2 +OMIM:602049 skos:exactMatch UMLS:C1842398 Unspecified RAC2 +OMIM:602049 skos:exactMatch UMLS:C5436550 Unspecified RAC2 +OMIM:602049 skos:exactMatch UMLS:C5436549 Unspecified RAC2 +OMIM:616690 skos:exactMatch HGNC:24866 Unspecified CEP104 +OMIM:616690 skos:exactMatch HGNC_symbol:CEP104 Unspecified CEP104 +OMIM:616690 skos:exactMatch UMLS:C1825667 Unspecified CEP104 +OMIM:616691 skos:exactMatch UMLS:C1539472 Unspecified ESYT2 +OMIM:616691 skos:exactMatch HGNC_symbol:ESYT2 Unspecified ESYT2 +OMIM:616691 skos:exactMatch HGNC:22211 Unspecified ESYT2 +OMIM:616692 skos:exactMatch HGNC:24295 Unspecified ESYT3 +OMIM:616692 skos:exactMatch UMLS:C1539473 Unspecified ESYT3 +OMIM:616692 skos:exactMatch HGNC_symbol:ESYT3 Unspecified ESYT3 +OMIM:616693 skos:exactMatch UMLS:C3469621 Unspecified ASIC5 +OMIM:616693 skos:exactMatch HGNC_symbol:ASIC5 Unspecified ASIC5 +OMIM:616693 skos:exactMatch HGNC:17537 Unspecified ASIC5 +OMIM:616694 skos:exactMatch HGNC_symbol:ECPAS Unspecified ECPAS +OMIM:616694 skos:exactMatch HGNC:29020 Unspecified ECPAS +OMIM:616694 skos:exactMatch UMLS:C1428777 Unspecified ECPAS +OMIM:616695 skos:exactMatch HGNC:18165 Unspecified STYXL1 +OMIM:616695 skos:exactMatch HGNC_symbol:STYXL1 Unspecified STYXL1 +OMIM:616695 skos:exactMatch UMLS:C1823145 Unspecified STYXL1 +OMIM:241520 skos:exactMatch UMLS:C0342643 Unspecified hypophosphatemic rickets, autosomal recessive, 1 +OMIM:241520 skos:exactMatch UMLS:C4551495 Unspecified hypophosphatemic rickets, autosomal recessive, 1 +OMIM:614029 skos:exactMatch UMLS:C1823094 Unspecified SPDYA +OMIM:614029 skos:exactMatch HGNC:30613 Unspecified SPDYA +OMIM:614029 skos:exactMatch HGNC_symbol:SPDYA Unspecified SPDYA +OMIM:614028 skos:exactMatch UMLS:C3151467 Unspecified apolipoprotein c-iii deficiency +OMIM:616696 skos:exactMatch HGNC:28950 Unspecified KIAA0040 +OMIM:616696 skos:exactMatch UMLS:C1537441 Unspecified KIAA0040 +OMIM:616696 skos:exactMatch HGNC_symbol:KIAA0040 Unspecified KIAA0040 +OMIM:614027 skos:exactMatch HGNC:17539 Unspecified INSM2 +OMIM:614027 skos:exactMatch HGNC_symbol:INSM2 Unspecified INSM2 +OMIM:614027 skos:exactMatch UMLS:C1424992 Unspecified INSM2 +OMIM:616697 skos:exactMatch UMLS:C4225241 Unspecified deafness, autosomal dominant 69 +OMIM:614026 skos:exactMatch UMLS:C1825708 Unspecified KIF26B +OMIM:614026 skos:exactMatch UMLS:C2986382 Unspecified KIF26B +OMIM:614026 skos:exactMatch HGNC_symbol:KIF26B Unspecified KIF26B +OMIM:614026 skos:exactMatch HGNC:25484 Unspecified KIF26B +OMIM:616698 skos:exactMatch HGNC:30943 Unspecified ZNF593 +OMIM:616698 skos:exactMatch UMLS:C1429017 Unspecified ZNF593 +OMIM:616698 skos:exactMatch HGNC_symbol:ZNF593 Unspecified ZNF593 +OMIM:614036 skos:exactMatch UMLS:C3279661 Unspecified alpha-2-macroglobulin deficiency +OMIM:616688 skos:exactMatch UMLS:C4225243 Unspecified charcot-marie-tooth disease, axonal, iia 2z +OMIM:614035 skos:exactMatch UMLS:C3279660 Unspecified deafness, autosomal recessive 29 +OMIM:616689 skos:exactMatch UMLS:C4225242 Unspecified dehydrated hereditary stomatocytosis 2 +OMIM:614034 skos:exactMatch UMLS:C1841651 Unspecified heme oxygenase 1 deficiency +OMIM:614033 skos:exactMatch UMLS:C3279657 Unspecified hydroxyacyl glutathione hydrolase deficiency +OMIM:614032 skos:exactMatch HGNC_symbol:TOX4 Unspecified TOX4 +OMIM:614032 skos:exactMatch UMLS:C1825671 Unspecified TOX4 +OMIM:614032 skos:exactMatch HGNC:20161 Unspecified TOX4 +OMIM:614031 skos:exactMatch HGNC_symbol:RANBP10 Unspecified RANBP10 +OMIM:614031 skos:exactMatch UMLS:C1538783 Unspecified RANBP10 +OMIM:614031 skos:exactMatch HGNC:29285 Unspecified RANBP10 +OMIM:614030 skos:exactMatch HGNC:32681 Unspecified SPDYC +OMIM:614030 skos:exactMatch HGNC_symbol:SPDYC Unspecified SPDYC +OMIM:614030 skos:exactMatch UMLS:C1823095 Unspecified SPDYC +OMIM:602050 skos:exactMatch UMLS:C1419229 Unspecified RAC3 +OMIM:602050 skos:exactMatch HGNC_symbol:RAC3 Unspecified RAC3 +OMIM:602050 skos:exactMatch HGNC:9803 Unspecified RAC3 +OMIM:602051 skos:exactMatch HGNC:8989 Unspecified PIN1L +OMIM:602051 skos:exactMatch HGNC_symbol:PIN1P1 Unspecified PIN1L +OMIM:602051 skos:exactMatch UMLS:C1418583 Unspecified PIN1L +OMIM:602052 skos:exactMatch UMLS:C1414944 Unspecified GAK +OMIM:602052 skos:exactMatch HGNC:4113 Unspecified GAK +OMIM:602052 skos:exactMatch HGNC_symbol:GAK Unspecified GAK +OMIM:602053 skos:exactMatch HGNC_symbol:KLF6 Unspecified KLF6 +OMIM:602053 skos:exactMatch UMLS:C1537486 Unspecified KLF6 +OMIM:602053 skos:exactMatch HGNC:2235 Unspecified KLF6 +OMIM:602054 skos:exactMatch UMLS:C0039685 Unspecified TBX1 +OMIM:602054 skos:exactMatch UMLS:C4016770 Unspecified TBX1 +OMIM:602054 skos:exactMatch UMLS:C0012236 Unspecified TBX1 +OMIM:602054 skos:exactMatch HGNC:11592 Unspecified TBX1 +OMIM:602054 skos:exactMatch UMLS:C1420603 Unspecified TBX1 +OMIM:602054 skos:exactMatch HGNC_symbol:TBX1 Unspecified TBX1 +OMIM:602054 skos:exactMatch UMLS:C0220704 Unspecified TBX1 +OMIM:602055 skos:exactMatch HGNC:6083 Unspecified INSIG1 +OMIM:602055 skos:exactMatch HGNC_symbol:INSIG1 Unspecified INSIG1 +OMIM:602055 skos:exactMatch UMLS:C1416450 Unspecified INSIG1 +OMIM:602056 skos:exactMatch UMLS:C1333213 Unspecified DEFB1 +OMIM:602056 skos:exactMatch HGNC_symbol:DEFB1 Unspecified DEFB1 +OMIM:602056 skos:exactMatch HGNC:2766 Unspecified DEFB1 +OMIM:192020 skos:exactMatch UMLS:C1421318 Unspecified SCGB1A1 +OMIM:192020 skos:exactMatch HGNC_symbol:SCGB1A1 Unspecified SCGB1A1 +OMIM:192020 skos:exactMatch HGNC:12523 Unspecified SCGB1A1 +OMIM:180090 skos:exactMatch UMLS:C1419391 Unspecified RLBP1 +OMIM:180090 skos:exactMatch HGNC:10024 Unspecified RLBP1 +OMIM:180090 skos:exactMatch HGNC_symbol:RLBP1 Unspecified RLBP1 +OMIM:179095 skos:exactMatch HGNC_symbol:UBE2B Unspecified UBE2B +OMIM:179095 skos:exactMatch HGNC:12473 Unspecified UBE2B +OMIM:179095 skos:exactMatch UMLS:C1421272 Unspecified UBE2B +OMIM:300401 skos:exactMatch UMLS:C4016484 Unspecified PLP1 +OMIM:300401 skos:exactMatch UMLS:C4016483 Unspecified PLP1 +OMIM:300401 skos:exactMatch UMLS:C1418654 Unspecified PLP1 +OMIM:300401 skos:exactMatch HGNC_symbol:PLP1 Unspecified PLP1 +OMIM:300401 skos:exactMatch UMLS:C4015968 Unspecified PLP1 +OMIM:300401 skos:exactMatch UMLS:C0751604 Unspecified PLP1 +OMIM:300401 skos:exactMatch UMLS:C0751915 Unspecified PLP1 +OMIM:300401 skos:exactMatch UMLS:C0205711 Unspecified PLP1 +OMIM:300401 skos:exactMatch HGNC:9086 Unspecified PLP1 +OMIM:300400 skos:exactMatch UMLS:C1279481 Unspecified severe combined immunodeficiency, X-linked +OMIM:300403 skos:exactMatch HGNC:20372 Unspecified NDUFB11 +OMIM:300403 skos:exactMatch UMLS:C1538052 Unspecified NDUFB11 +OMIM:300403 skos:exactMatch HGNC_symbol:NDUFB11 Unspecified NDUFB11 +OMIM:300402 skos:exactMatch HGNC_symbol:LDOC1 Unspecified LDOC1 +OMIM:300402 skos:exactMatch HGNC:6548 Unspecified LDOC1 +OMIM:300402 skos:exactMatch UMLS:C1416823 Unspecified LDOC1 +OMIM:300405 skos:exactMatch HGNC:25410 Unspecified RAB40AL +OMIM:300405 skos:exactMatch HGNC_symbol:RAB40AL Unspecified RAB40AL +OMIM:300405 skos:exactMatch UMLS:C1538770 Unspecified RAB40AL +OMIM:300407 skos:exactMatch HGNC_symbol:PABPC5 Unspecified PABPC5 +OMIM:300407 skos:exactMatch HGNC:13629 Unspecified PABPC5 +OMIM:300407 skos:exactMatch UMLS:C1422117 Unspecified PABPC5 +OMIM:300406 skos:exactMatch UMLS:C1845567 Unspecified fg syndrome 3 +OMIM:241500 skos:exactMatch ORPHA:436 Unspecified hypophosphatasia, infantile +OMIM:241500 skos:exactMatch ORPHA:247651 Unspecified hypophosphatasia, infantile +OMIM:241500 skos:exactMatch ORPHA:247623 Unspecified hypophosphatasia, infantile +OMIM:241500 skos:exactMatch UMLS:C0268412 Unspecified hypophosphatasia, infantile +OMIM:300409 skos:exactMatch HGNC:16849 Unspecified MORF4L2 +OMIM:300409 skos:exactMatch UMLS:C1424591 Unspecified MORF4L2 +OMIM:300409 skos:exactMatch HGNC_symbol:MORF4L2 Unspecified MORF4L2 +OMIM:300408 skos:exactMatch HGNC:18706 Unspecified GRIPAP1 +OMIM:300408 skos:exactMatch UMLS:C1425725 Unspecified GRIPAP1 +OMIM:300408 skos:exactMatch HGNC_symbol:GRIPAP1 Unspecified GRIPAP1 +OMIM:614099 skos:exactMatch UMLS:C3279807 Unspecified cranioectodermal dysplasia 3 +OMIM:614098 skos:exactMatch UMLS:C3279800 Unspecified keppen-lubinsky syndrome +OMIM:614097 skos:exactMatch UMLS:C0268419 Unspecified acatalasemia +OMIM:614096 skos:exactMatch UMLS:C3279793 Unspecified combined oxidative phosphorylation deficiency 8 +OMIM:614095 skos:exactMatch HGNC:8725 Unspecified PCK2 +OMIM:614095 skos:exactMatch HGNC_symbol:PCK2 Unspecified PCK2 +OMIM:614095 skos:exactMatch UMLS:C1418372 Unspecified PCK2 +OMIM:614094 skos:exactMatch UMLS:C1537668 Unspecified MARVELD3 +OMIM:614094 skos:exactMatch HGNC_symbol:MARVELD3 Unspecified MARVELD3 +OMIM:614094 skos:exactMatch HGNC:30525 Unspecified MARVELD3 +OMIM:614093 skos:exactMatch HGNC:28787 Unspecified RILPL2 +OMIM:614093 skos:exactMatch HGNC_symbol:RILPL2 Unspecified RILPL2 +OMIM:614093 skos:exactMatch UMLS:C2239887 Unspecified RILPL2 +OMIM:614092 skos:exactMatch HGNC_symbol:RILPL1 Unspecified RILPL1 +OMIM:614092 skos:exactMatch HGNC:26814 Unspecified RILPL1 +OMIM:614092 skos:exactMatch UMLS:C2239886 Unspecified RILPL1 +OMIM:614091 skos:exactMatch UMLS:C4747658 Unspecified short-rib thoracic dysplasia 7 with or without polydactyly +OMIM:614091 skos:exactMatch ORPHA:93271 Unspecified short-rib thoracic dysplasia 7 with or without polydactyly +OMIM:614091 skos:exactMatch ORPHA:498497 Unspecified short-rib thoracic dysplasia 7 with or without polydactyly +OMIM:614091 skos:exactMatch UMLS:C3279792 Unspecified short-rib thoracic dysplasia 7 with or without polydactyly +OMIM:614090 skos:exactMatch UMLS:C3279791 Unspecified sick sinus syndrome 3, susceptibility to +OMIM:180073 skos:exactMatch HGNC_symbol:PDE6G Unspecified PDE6G +OMIM:180073 skos:exactMatch HGNC:8789 Unspecified PDE6G +OMIM:180073 skos:exactMatch UMLS:C1418429 Unspecified PDE6G +OMIM:180073 skos:exactMatch UMLS:C3150821 Unspecified PDE6G +OMIM:216550 skos:exactMatch ORPHA:193 Unspecified cohen syndrome +OMIM:216550 skos:exactMatch UMLS:C0265223 Unspecified cohen syndrome +OMIM:180071 skos:exactMatch HGNC_symbol:PDE6A Unspecified PDE6A +OMIM:180071 skos:exactMatch HGNC:8785 Unspecified PDE6A +OMIM:180071 skos:exactMatch UMLS:C3151139 Unspecified PDE6A +OMIM:180071 skos:exactMatch UMLS:C1418425 Unspecified PDE6A +OMIM:180072 skos:exactMatch UMLS:C1876182 Unspecified PDE6B +OMIM:180072 skos:exactMatch HGNC_symbol:PDE6B Unspecified PDE6B +OMIM:180072 skos:exactMatch HGNC:8786 Unspecified PDE6B +OMIM:180072 skos:exactMatch UMLS:C3151107 Unspecified PDE6B +OMIM:180072 skos:exactMatch UMLS:C1418426 Unspecified PDE6B +OMIM:192050 skos:exactMatch UMLS:C1860549 Unspecified uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis +OMIM:614089 skos:exactMatch UMLS:C3279790 Unspecified atrial septal defect 3 +OMIM:614088 skos:exactMatch HGNC_symbol:ICAM4 Unspecified ICAM4 +OMIM:614088 skos:exactMatch UMLS:C1415842 Unspecified ICAM4 +OMIM:614088 skos:exactMatch HGNC:5347 Unspecified ICAM4 +OMIM:614086 skos:exactMatch UMLS:C3463911 Unspecified MCIDAS +OMIM:614086 skos:exactMatch HGNC_symbol:MCIDAS Unspecified MCIDAS +OMIM:614086 skos:exactMatch HGNC:40050 Unspecified MCIDAS +OMIM:614086 skos:exactMatch UMLS:C5231464 Unspecified MCIDAS +OMIM:614085 skos:exactMatch UMLS:C1824353 Unspecified RHNO1 +OMIM:614085 skos:exactMatch HGNC:28206 Unspecified RHNO1 +OMIM:614085 skos:exactMatch HGNC_symbol:RHNO1 Unspecified RHNO1 +OMIM:614084 skos:exactMatch HGNC_symbol:WEE2 Unspecified WEE2 +OMIM:614084 skos:exactMatch UMLS:C4693865 Unspecified WEE2 +OMIM:614084 skos:exactMatch HGNC:19684 Unspecified WEE2 +OMIM:614084 skos:exactMatch UMLS:C1538106 Unspecified WEE2 +OMIM:614083 skos:exactMatch UMLS:C3469528 Unspecified fanconi anemia, complementation group 50 +OMIM:614082 skos:exactMatch UMLS:C3469527 Unspecified fanconi anemia, complementation group g +OMIM:614081 skos:exactMatch UMLS:C3279787 Unspecified anhaptoglobinemia +OMIM:614081 skos:exactMatch UMLS:C3279786 Unspecified anhaptoglobinemia +OMIM:614080 skos:exactMatch UMLS:C3279775 Unspecified multiple congenital anomalies-hypotonia-seizures syndrome 1 +OMIM:180080 skos:exactMatch UMLS:C2939143 Unspecified retinal venous beading +OMIM:228520 skos:exactMatch UMLS:C3278138 Unspecified fibrochondrogenesis 1 +OMIM:614079 skos:exactMatch UMLS:C3279774 Unspecified aspergillosis, susceptibility to +OMIM:614078 skos:exactMatch UMLS:C3279757 Unspecified chondrodysplasia with joint dislocations, gpapp iia +OMIM:614077 skos:exactMatch UMLS:C3888026 Unspecified hermansky-pudlak syndrome 8 +OMIM:602090 skos:exactMatch HGNC_symbol:LTBP3 Unspecified LTBP3 +OMIM:602090 skos:exactMatch UMLS:C1416929 Unspecified LTBP3 +OMIM:602090 skos:exactMatch HGNC:6716 Unspecified LTBP3 +OMIM:614076 skos:exactMatch UMLS:C3279756 Unspecified hermansky-pudlak syndrome 7 +OMIM:614075 skos:exactMatch ORPHA:79430 Unspecified hermansky-pudlak syndrome 6 +OMIM:614075 skos:exactMatch UMLS:C3888007 Unspecified hermansky-pudlak syndrome 6 +OMIM:614075 skos:exactMatch ORPHA:231512 Unspecified hermansky-pudlak syndrome 6 +OMIM:602091 skos:exactMatch HGNC_symbol:LTBP2 Unspecified LTBP2 +OMIM:602091 skos:exactMatch UMLS:C1334351 Unspecified LTBP2 +OMIM:602091 skos:exactMatch HGNC:6715 Unspecified LTBP2 +OMIM:614074 skos:exactMatch ORPHA:79430 Unspecified hermansky-pudlak syndrome 5 +OMIM:614074 skos:exactMatch UMLS:C3888004 Unspecified hermansky-pudlak syndrome 5 +OMIM:614074 skos:exactMatch ORPHA:231512 Unspecified hermansky-pudlak syndrome 5 +OMIM:602092 skos:exactMatch UMLS:C1865870 Unspecified deafness, autosomal recessive 18a +OMIM:602092 skos:exactMatch ORPHA:90636 Unspecified deafness, autosomal recessive 18a +OMIM:602093 skos:exactMatch UMLS:C1865869 Unspecified cone dystrophy 3 +OMIM:614073 skos:exactMatch ORPHA:79430 Unspecified hermansky-pudlak syndrome 4 +OMIM:614073 skos:exactMatch UMLS:C3484357 Unspecified hermansky-pudlak syndrome 4 +OMIM:614073 skos:exactMatch ORPHA:231500 Unspecified hermansky-pudlak syndrome 4 +OMIM:614072 skos:exactMatch ORPHA:79430 Unspecified hermansky-pudlak syndrome 3 +OMIM:614072 skos:exactMatch UMLS:C3888001 Unspecified hermansky-pudlak syndrome 3 +OMIM:614072 skos:exactMatch ORPHA:231512 Unspecified hermansky-pudlak syndrome 3 +OMIM:602095 skos:exactMatch UMLS:C1420181 Unspecified SLC30A4 +OMIM:602095 skos:exactMatch HGNC_symbol:SLC30A4 Unspecified SLC30A4 +OMIM:602095 skos:exactMatch HGNC:11015 Unspecified SLC30A4 +OMIM:614071 skos:exactMatch HGNC:43444 Unspecified MYZAP +OMIM:614071 skos:exactMatch HGNC_symbol:MYZAP Unspecified MYZAP +OMIM:614071 skos:exactMatch UMLS:C3471264 Unspecified MYZAP +OMIM:602096 skos:exactMatch UMLS:C1865868 Unspecified alzheimer disease 5 +OMIM:614070 skos:exactMatch UMLS:C3279754 Unspecified psoriasis 13, susceptibility to +OMIM:602097 skos:exactMatch UMLS:C1865865 Unspecified usher syndrome, iia 1e +OMIM:602098 skos:exactMatch HGNC_symbol:PLK1 Unspecified PLK1 +OMIM:602098 skos:exactMatch HGNC:9077 Unspecified PLK1 +OMIM:602098 skos:exactMatch UMLS:C1335227 Unspecified PLK1 +OMIM:602099 skos:exactMatch UMLS:C1865864 Unspecified amyotrophic lateral sclerosis 5, juvenile +OMIM:204500 skos:exactMatch UMLS:C0022340 Unspecified ceroid lipofuscinosis, neuronal, 2 +OMIM:204500 skos:exactMatch UMLS:C1876161 Unspecified ceroid lipofuscinosis, neuronal, 2 +OMIM:192090 skos:exactMatch UMLS:C4016427 Unspecified CDH1 +OMIM:192090 skos:exactMatch UMLS:C4016428 Unspecified CDH1 +OMIM:192090 skos:exactMatch UMLS:C4016426 Unspecified CDH1 +OMIM:192090 skos:exactMatch UMLS:C1969537 Unspecified CDH1 +OMIM:192090 skos:exactMatch HGNC_symbol:CDH1 Unspecified CDH1 +OMIM:192090 skos:exactMatch UMLS:C3549742 Unspecified CDH1 +OMIM:192090 skos:exactMatch HGNC:1748 Unspecified CDH1 +OMIM:192090 skos:exactMatch UMLS:C3469524 Unspecified CDH1 +OMIM:192090 skos:exactMatch UMLS:C0694872 Unspecified CDH1 +OMIM:192090 skos:exactMatch UMLS:C1708349 Unspecified CDH1 +OMIM:192090 skos:exactMatch UMLS:C4551988 Unspecified CDH1 +OMIM:106070 skos:exactMatch UMLS:C1862898 Unspecified angioma, hereditary neurocutaneous +OMIM:106070 skos:exactMatch UMLS:C1862897 Unspecified angioma, hereditary neurocutaneous +OMIM:106070 skos:exactMatch UMLS:C1275084 Unspecified angioma, hereditary neurocutaneous +OMIM:133700 skos:exactMatch ORPHA:321 Unspecified exostoses, multiple, iia 1 +OMIM:133700 skos:exactMatch UMLS:C0015306 Unspecified exostoses, multiple, iia 1 +OMIM:133701 skos:exactMatch ORPHA:321 Unspecified exostoses, multiple, iia 2 +OMIM:133701 skos:exactMatch UMLS:C1851413 Unspecified exostoses, multiple, iia 2 +OMIM:133705 skos:exactMatch UMLS:C1876181 Unspecified external auditory canal, bilateral atresia of, with congenital vertical talus +OMIM:106050 skos:exactMatch UMLS:C1970130 Unspecified angioma serpiginosum, autosomal dominant +OMIM:118005 skos:exactMatch UMLS:C1861693 Unspecified cervical vertebral dysplasia +OMIM:145700 skos:exactMatch UMLS:C0235864 Unspecified hypertrichosis lanuginosa congenita +OMIM:145701 skos:exactMatch UMLS:C1840362 Unspecified hypertrichosis universalis congenita, ambras iia +OMIM:118000 skos:exactMatch UMLS:C1861694 Unspecified cervical vertebral bridge +OMIM:108780 skos:exactMatch UMLS:C1417807 Unspecified NPPA +OMIM:108780 skos:exactMatch HGNC_symbol:NPPA Unspecified NPPA +OMIM:108780 skos:exactMatch HGNC:7939 Unspecified NPPA +OMIM:145600 skos:exactMatch UMLS:C1840365 Unspecified malignant hyperthermia, susceptibility to, 1 +OMIM:145600 skos:exactMatch UMLS:C2930980 Unspecified malignant hyperthermia, susceptibility to, 1 +OMIM:118100 skos:exactMatch UMLS:C1861689 Unspecified klippel-feil syndrome 1, autosomal dominant +OMIM:300494 skos:exactMatch UMLS:C1845341 Unspecified asperger syndrome, x-linked, susceptibility to, 1 +OMIM:300493 skos:exactMatch HGNC:14328 Unspecified SPANXA2 +OMIM:300493 skos:exactMatch HGNC_symbol:SPANXA2 Unspecified SPANXA2 +OMIM:300493 skos:exactMatch UMLS:C1422566 Unspecified SPANXA2 +OMIM:300496 skos:exactMatch UMLS:C1845336 Unspecified autism, susceptibility to, X-linked 3 +OMIM:300495 skos:exactMatch UMLS:C1136249 Unspecified autism, susceptibility to, X-linked 2 +OMIM:300495 skos:exactMatch UMLS:C1845539 Unspecified autism, susceptibility to, X-linked 2 +OMIM:300498 skos:exactMatch UMLS:C1845333 Unspecified intellectual developmental disorder, X-linked 45 +OMIM:106100 skos:exactMatch UMLS:C1862892 Unspecified angioedema, hereditary, 1 +OMIM:106100 skos:exactMatch UMLS:C0019243 Unspecified angioedema, hereditary, 1 +OMIM:106100 skos:exactMatch UMLS:C2717906 Unspecified angioedema, hereditary, 1 +OMIM:300497 skos:exactMatch UMLS:C1845334 Unspecified asperger syndrome, x-linked, susceptibility to, 2 +OMIM:108760 skos:exactMatch UMLS:C3276095 Unspecified atresia of external auditory canal and conductive deafness +OMIM:300499 skos:exactMatch UMLS:C1421907 Unspecified FTSJ1 +OMIM:300499 skos:exactMatch HGNC:13254 Unspecified FTSJ1 +OMIM:300499 skos:exactMatch HGNC_symbol:FTSJ1 Unspecified FTSJ1 +OMIM:108770 skos:exactMatch UMLS:C4551959 Unspecified atrial standstill 1 +OMIM:157600 skos:exactMatch UMLS:C1834870 Unspecified mirror movements 1 +OMIM:604611 skos:exactMatch UMLS:C0043119 Unspecified RECQL2 +OMIM:604611 skos:exactMatch HGNC_symbol:WRN Unspecified RECQL2 +OMIM:604611 skos:exactMatch HGNC:12791 Unspecified RECQL2 +OMIM:604611 skos:exactMatch UMLS:C1337007 Unspecified RECQL2 +OMIM:604610 skos:exactMatch UMLS:C1337098 Unspecified RECQL3 +OMIM:604610 skos:exactMatch HGNC:1058 Unspecified RECQL3 +OMIM:604610 skos:exactMatch HGNC_symbol:BLM Unspecified RECQL3 +OMIM:604613 skos:exactMatch UMLS:C0521619 Unspecified TBX18 +OMIM:604613 skos:exactMatch HGNC_symbol:TBX18 Unspecified TBX18 +OMIM:604613 skos:exactMatch HGNC:11595 Unspecified TBX18 +OMIM:604613 skos:exactMatch UMLS:C1420606 Unspecified TBX18 +OMIM:604612 skos:exactMatch HGNC:7835 Unspecified NKX2-2 +OMIM:604612 skos:exactMatch UMLS:C1417735 Unspecified NKX2-2 +OMIM:604612 skos:exactMatch HGNC_symbol:NKX2-2 Unspecified NKX2-2 +OMIM:108740 skos:exactMatch UMLS:C1412638 Unspecified ATP2A2 +OMIM:108740 skos:exactMatch HGNC_symbol:ATP2A2 Unspecified ATP2A2 +OMIM:108740 skos:exactMatch HGNC:812 Unspecified ATP2A2 +OMIM:604615 skos:exactMatch UMLS:C1414420 Unspecified EOMES +OMIM:604615 skos:exactMatch HGNC:3372 Unspecified EOMES +OMIM:604615 skos:exactMatch HGNC_symbol:EOMES Unspecified EOMES +OMIM:604614 skos:exactMatch HGNC_symbol:TBX19 Unspecified TBX19 +OMIM:604614 skos:exactMatch UMLS:C0271583 Unspecified TBX19 +OMIM:604614 skos:exactMatch HGNC:11596 Unspecified TBX19 +OMIM:604614 skos:exactMatch UMLS:C1420607 Unspecified TBX19 +OMIM:604617 skos:exactMatch HGNC:7760 Unspecified NEU3 +OMIM:604617 skos:exactMatch UMLS:C1417682 Unspecified NEU3 +OMIM:604617 skos:exactMatch HGNC_symbol:NEU3 Unspecified NEU3 +OMIM:604616 skos:exactMatch HGNC:11590 Unspecified TBR1 +OMIM:604616 skos:exactMatch HGNC_symbol:TBR1 Unspecified TBR1 +OMIM:604616 skos:exactMatch UMLS:C1420602 Unspecified TBR1 +OMIM:604619 skos:exactMatch HGNC_symbol:LGI1 Unspecified LGI1 +OMIM:604619 skos:exactMatch HGNC:6572 Unspecified LGI1 +OMIM:604619 skos:exactMatch UMLS:C1367458 Unspecified LGI1 +OMIM:604618 skos:exactMatch HGNC:7828 Unspecified NIT1 +OMIM:604618 skos:exactMatch UMLS:C1417732 Unspecified NIT1 +OMIM:604618 skos:exactMatch HGNC_symbol:NIT1 Unspecified NIT1 +OMIM:170600 skos:exactMatch UMLS:C0268445 Unspecified normokalemic periodic paralysis +OMIM:169610 skos:exactMatch UMLS:C1868502 Unspecified pemphigus vulgaris, familial +OMIM:108733 skos:exactMatch HGNC:815 Unspecified ATP2B2 +OMIM:108733 skos:exactMatch UMLS:C1412641 Unspecified ATP2B2 +OMIM:108733 skos:exactMatch HGNC_symbol:ATP2B2 Unspecified ATP2B2 +OMIM:108732 skos:exactMatch HGNC:817 Unspecified ATP2B4 +OMIM:108732 skos:exactMatch UMLS:C1412643 Unspecified ATP2B4 +OMIM:108732 skos:exactMatch HGNC_symbol:ATP2B4 Unspecified ATP2B4 +OMIM:108731 skos:exactMatch HGNC:814 Unspecified ATP2B1 +OMIM:108731 skos:exactMatch UMLS:C1412640 Unspecified ATP2B1 +OMIM:108731 skos:exactMatch HGNC_symbol:ATP2B1 Unspecified ATP2B1 +OMIM:108730 skos:exactMatch HGNC:811 Unspecified ATP2A1 +OMIM:108730 skos:exactMatch UMLS:C1412637 Unspecified ATP2A1 +OMIM:108730 skos:exactMatch HGNC_symbol:ATP2A1 Unspecified ATP2A1 +OMIM:169615 skos:exactMatch HGNC_symbol:DSG3 Unspecified DSG3 +OMIM:169615 skos:exactMatch HGNC:3050 Unspecified DSG3 +OMIM:169615 skos:exactMatch UMLS:C1414170 Unspecified DSG3 +OMIM:604620 skos:exactMatch HGNC_symbol:GPR65 Unspecified GPR65 +OMIM:604620 skos:exactMatch HGNC:4517 Unspecified GPR65 +OMIM:604620 skos:exactMatch UMLS:C1415251 Unspecified GPR65 +OMIM:604600 skos:exactMatch UMLS:C1336676 Unspecified TRPM5 +OMIM:604600 skos:exactMatch HGNC:14323 Unspecified TRPM5 +OMIM:604600 skos:exactMatch HGNC_symbol:TRPM5 Unspecified TRPM5 +OMIM:604602 skos:exactMatch HGNC_symbol:MRRF Unspecified MRRF +OMIM:604602 skos:exactMatch HGNC:7234 Unspecified MRRF +OMIM:604602 skos:exactMatch UMLS:C1417252 Unspecified MRRF +OMIM:604601 skos:exactMatch HGNC:7469 Unspecified MTRF1 +OMIM:604601 skos:exactMatch HGNC_symbol:MTRF1 Unspecified MTRF1 +OMIM:604601 skos:exactMatch UMLS:C1417454 Unspecified MTRF1 +OMIM:604604 skos:exactMatch HGNC:1329 Unspecified SLC30A9 +OMIM:604604 skos:exactMatch UMLS:C1413005 Unspecified SLC30A9 +OMIM:604604 skos:exactMatch HGNC_symbol:SLC30A9 Unspecified SLC30A9 +OMIM:604603 skos:exactMatch UMLS:C1414587 Unspecified MYOF +OMIM:604603 skos:exactMatch HGNC_symbol:MYOF Unspecified MYOF +OMIM:604603 skos:exactMatch HGNC:3656 Unspecified MYOF +OMIM:604606 skos:exactMatch HGNC_symbol:OBP2B Unspecified OBP2B +OMIM:604606 skos:exactMatch HGNC:23381 Unspecified OBP2B +OMIM:604606 skos:exactMatch UMLS:C1428060 Unspecified OBP2B +OMIM:604605 skos:exactMatch UMLS:C2986382 Unspecified KALRN +OMIM:604605 skos:exactMatch HGNC_symbol:KALRN Unspecified KALRN +OMIM:604605 skos:exactMatch UMLS:C1537432 Unspecified KALRN +OMIM:604605 skos:exactMatch HGNC:4814 Unspecified KALRN +OMIM:604605 skos:exactMatch UMLS:C4015968 Unspecified KALRN +OMIM:604607 skos:exactMatch UMLS:C1415664 Unspecified HOXB13 +OMIM:604607 skos:exactMatch HGNC_symbol:HOXB13 Unspecified HOXB13 +OMIM:604607 skos:exactMatch HGNC:5112 Unspecified HOXB13 +OMIM:604609 skos:exactMatch HGNC_symbol:MUC12 Unspecified MUC12 +OMIM:604609 skos:exactMatch HGNC:7510 Unspecified MUC12 +OMIM:604609 skos:exactMatch UMLS:C1417492 Unspecified MUC12 +OMIM:277480 skos:exactMatch UMLS:C1264041 Unspecified von willebrand disease, iia 3 +OMIM:277470 skos:exactMatch UMLS:C1848526 Unspecified pontocerebellar hypoplasia, iia 2a +OMIM:145650 skos:exactMatch ORPHA:165994 Unspecified thyroid hormone resistance, selective pituitary +OMIM:145650 skos:exactMatch ORPHA:566243 Unspecified thyroid hormone resistance, selective pituitary +OMIM:145650 skos:exactMatch UMLS:C1840364 Unspecified thyroid hormone resistance, selective pituitary +OMIM:169600 skos:exactMatch UMLS:C0085106 Unspecified benign chronic pemphigus +OMIM:182601 skos:exactMatch UMLS:C1866855 Unspecified spastic paraplegia 4, autosomal dominant +OMIM:182600 skos:exactMatch UMLS:C2931355 Unspecified spastic paraplegia 3, autosomal dominant +OMIM:182600 skos:exactMatch ORPHA:100984 Unspecified spastic paraplegia 3, autosomal dominant +OMIM:108746 skos:exactMatch HGNC_symbol:ATP6V1E1 Unspecified ATP6V1E1 +OMIM:108746 skos:exactMatch HGNC:857 Unspecified ATP6V1E1 +OMIM:108746 skos:exactMatch UMLS:C1412677 Unspecified ATP6V1E1 +OMIM:108746 skos:exactMatch UMLS:C4479387 Unspecified ATP6V1E1 +OMIM:108745 skos:exactMatch HGNC:855 Unspecified ATP6V0C +OMIM:108745 skos:exactMatch UMLS:C1412675 Unspecified ATP6V0C +OMIM:108745 skos:exactMatch HGNC_symbol:ATP6V0C Unspecified ATP6V0C +OMIM:157655 skos:exactMatch HGNC:7707 Unspecified NDUFS1 +OMIM:157655 skos:exactMatch UMLS:C1417644 Unspecified NDUFS1 +OMIM:157655 skos:exactMatch HGNC_symbol:NDUFS1 Unspecified NDUFS1 +OMIM:277460 skos:exactMatch UMLS:C1848533 Unspecified ataxia with vitamin e deficiency +OMIM:277465 skos:exactMatch UMLS:C1848532 Unspecified vitiligo, progressive, with mental retardation and urethral duplication +OMIM:143000 skos:exactMatch UMLS:C1840475 Unspecified horner syndrome, congenital +OMIM:133690 skos:exactMatch UMLS:C1851428 Unspecified exostoses with anetodermia and brachydactyly, iia e +OMIM:157640 skos:exactMatch ORPHA:254892 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +OMIM:157640 skos:exactMatch UMLS:C1834846 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 +OMIM:277450 skos:exactMatch UMLS:C1848534 Unspecified vitamin k-dependent clotting factors, combined deficiency of, 1 +OMIM:108729 skos:exactMatch HGNC:833 Unspecified ATP5F1C +OMIM:108729 skos:exactMatch UMLS:C1412656 Unspecified ATP5F1C +OMIM:108729 skos:exactMatch HGNC_symbol:ATP5F1C Unspecified ATP5F1C +OMIM:108728 skos:exactMatch HGNC:115 Unspecified ACLY +OMIM:108728 skos:exactMatch UMLS:C1412125 Unspecified ACLY +OMIM:108728 skos:exactMatch HGNC_symbol:ACLY Unspecified ACLY +OMIM:143010 skos:exactMatch HGNC_symbol:HLA-E Unspecified HLA-E +OMIM:143010 skos:exactMatch HGNC:4962 Unspecified HLA-E +OMIM:143010 skos:exactMatch UMLS:C1415585 Unspecified HLA-E +OMIM:108721 skos:exactMatch UMLS:C3668942 Unspecified atelosteogenesis, iia 3 +OMIM:108721 skos:exactMatch ORPHA:56305 Unspecified atelosteogenesis, iia 3 +OMIM:108720 skos:exactMatch ORPHA:1190 Unspecified atelosteogenesis, iia 1 +OMIM:108720 skos:exactMatch UMLS:C0265283 Unspecified atelosteogenesis, iia 1 +OMIM:108725 skos:exactMatch UMLS:C1531719 Unspecified atherosclerosis susceptibility +OMIM:604655 skos:exactMatch HGNC:6853 Unspecified MAP3K14 +OMIM:604655 skos:exactMatch UMLS:C1367673 Unspecified MAP3K14 +OMIM:604655 skos:exactMatch HGNC_symbol:MAP3K14 Unspecified MAP3K14 +OMIM:604654 skos:exactMatch UMLS:C1415812 Unspecified HTR3B +OMIM:604654 skos:exactMatch HGNC_symbol:HTR3B Unspecified HTR3B +OMIM:604654 skos:exactMatch HGNC:5298 Unspecified HTR3B +OMIM:604657 skos:exactMatch HGNC:11857 Unspecified TM4SF5 +OMIM:604657 skos:exactMatch UMLS:C1420765 Unspecified TM4SF5 +OMIM:604657 skos:exactMatch HGNC_symbol:TM4SF5 Unspecified TM4SF5 +OMIM:604656 skos:exactMatch HGNC:1212 Unspecified FMNL1 +OMIM:604656 skos:exactMatch HGNC_symbol:FMNL1 Unspecified FMNL1 +OMIM:604656 skos:exactMatch UMLS:C1412906 Unspecified FMNL1 +OMIM:604659 skos:exactMatch HGNC:13525 Unspecified ERVW1 +OMIM:604659 skos:exactMatch UMLS:C1422036 Unspecified ERVW1 +OMIM:604659 skos:exactMatch HGNC_symbol:ERVW-1 Unspecified ERVW1 +OMIM:300431 skos:exactMatch ORPHA:1193 Unspecified atkin-flaitz syndrome +OMIM:300431 skos:exactMatch UMLS:C0796206 Unspecified atkin-flaitz syndrome +OMIM:604658 skos:exactMatch HGNC:11862 Unspecified TM7SF1 +OMIM:604658 skos:exactMatch UMLS:C1825404 Unspecified TM7SF1 +OMIM:604658 skos:exactMatch HGNC_symbol:GPR137B Unspecified TM7SF1 +OMIM:604658 skos:exactMatch UMLS:C1858190 Unspecified TM7SF1 +OMIM:300434 skos:exactMatch UMLS:C1845530 Unspecified intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia +OMIM:300433 skos:exactMatch UMLS:C1845531 Unspecified intellectual developmental disorder, X-linked 81 +OMIM:300436 skos:exactMatch UMLS:C1845526 Unspecified intellectual developmental disorder, X-linked 46 +OMIM:300435 skos:exactMatch UMLS:C1423971 Unspecified PGRMC1 +OMIM:300435 skos:exactMatch HGNC:16090 Unspecified PGRMC1 +OMIM:300435 skos:exactMatch HGNC_symbol:PGRMC1 Unspecified PGRMC1 +OMIM:300438 skos:exactMatch UMLS:C3266731 Unspecified hsd10 mitochondrial disease +OMIM:300437 skos:exactMatch HGNC:5174 Unspecified ERAS +OMIM:300437 skos:exactMatch UMLS:C1415714 Unspecified ERAS +OMIM:300437 skos:exactMatch HGNC_symbol:ERAS Unspecified ERAS +OMIM:616640 skos:exactMatch UMLS:C4225258 Unspecified epilepsy, progressive myoclonic, 10 +OMIM:616641 skos:exactMatch HGNC_symbol:RNF141 Unspecified RNF141 +OMIM:616641 skos:exactMatch HGNC:21159 Unspecified RNF141 +OMIM:616641 skos:exactMatch UMLS:C1427374 Unspecified RNF141 +OMIM:300439 skos:exactMatch HGNC_symbol:RNF128 Unspecified RNF128 +OMIM:300439 skos:exactMatch HGNC:21153 Unspecified RNF128 +OMIM:300439 skos:exactMatch UMLS:C1427368 Unspecified RNF128 +OMIM:616642 skos:exactMatch HGNC:21114 Unspecified C6ORF89 +OMIM:616642 skos:exactMatch HGNC_symbol:C6orf89 Unspecified C6ORF89 +OMIM:616642 skos:exactMatch UMLS:C1427330 Unspecified C6ORF89 +OMIM:616643 skos:exactMatch HGNC:24937 Unspecified None +OMIM:616643 skos:exactMatch UMLS:C4225448 Unspecified None +OMIM:616643 skos:exactMatch HGNC_symbol:HDGFL3 Unspecified None +OMIM:616633 skos:exactMatch UMLS:C1826716 Unspecified PRR12 +OMIM:616633 skos:exactMatch HGNC_symbol:PRR12 Unspecified PRR12 +OMIM:616633 skos:exactMatch HGNC:29217 Unspecified PRR12 +OMIM:277440 skos:exactMatch UMLS:C0342646 Unspecified vitamin d-dependent rickets, iia 2a +OMIM:277440 skos:exactMatch UMLS:C3536983 Unspecified vitamin d-dependent rickets, iia 2a +OMIM:616634 skos:exactMatch UMLS:C1539798 Unspecified SNED1 +OMIM:616634 skos:exactMatch HGNC:24696 Unspecified SNED1 +OMIM:616634 skos:exactMatch HGNC_symbol:SNED1 Unspecified SNED1 +OMIM:143020 skos:exactMatch UMLS:C1840474 Unspecified hpa 1 recognition polymorphism, beta-globin-related +OMIM:616635 skos:exactMatch HGNC_symbol:CYHR1 Unspecified CYHR1 +OMIM:616635 skos:exactMatch HGNC:17806 Unspecified CYHR1 +OMIM:616635 skos:exactMatch UMLS:C1425090 Unspecified CYHR1 +OMIM:145680 skos:exactMatch UMLS:C2750824 Unspecified hyperthyroxinemia, dystransthyretinemic +OMIM:616636 skos:exactMatch UMLS:C4225260 Unspecified immunodeficiency 44 +OMIM:616637 skos:exactMatch UMLS:C1428693 Unspecified TBC1D16 +OMIM:616637 skos:exactMatch HGNC:28356 Unspecified TBC1D16 +OMIM:616637 skos:exactMatch HGNC_symbol:TBC1D16 Unspecified TBC1D16 +OMIM:616638 skos:exactMatch UMLS:C4225259 Unspecified smith-kingsmore syndrome +OMIM:143024 skos:exactMatch HGNC:4413 Unspecified GNL1 +OMIM:143024 skos:exactMatch HGNC_symbol:GNL1 Unspecified GNL1 +OMIM:143024 skos:exactMatch UMLS:C1415163 Unspecified GNL1 +OMIM:616639 skos:exactMatch HGNC_symbol:PRDM8 Unspecified PRDM8 +OMIM:616639 skos:exactMatch HGNC:13993 Unspecified PRDM8 +OMIM:616639 skos:exactMatch UMLS:C1422330 Unspecified PRDM8 +OMIM:143023 skos:exactMatch UMLS:C1826767 Unspecified RASSF7 +OMIM:143023 skos:exactMatch HGNC:1166 Unspecified RASSF7 +OMIM:143023 skos:exactMatch HGNC_symbol:RASSF7 Unspecified RASSF7 +OMIM:143025 skos:exactMatch HGNC:5180 Unspecified HRES1 +OMIM:143025 skos:exactMatch HGNC_symbol:HRES1 Unspecified HRES1 +OMIM:143025 skos:exactMatch UMLS:C1415720 Unspecified HRES1 +OMIM:604660 skos:exactMatch HGNC:15521 Unspecified KCNIP1 +OMIM:604660 skos:exactMatch HGNC_symbol:KCNIP1 Unspecified KCNIP1 +OMIM:604660 skos:exactMatch UMLS:C1423551 Unspecified KCNIP1 +OMIM:604662 skos:exactMatch UMLS:C1825644 Unspecified KCNIP3 +OMIM:604662 skos:exactMatch HGNC:15523 Unspecified KCNIP3 +OMIM:604662 skos:exactMatch HGNC_symbol:KCNIP3 Unspecified KCNIP3 +OMIM:602000 skos:exactMatch HGNC:20454 Unspecified POLR1B +OMIM:602000 skos:exactMatch UMLS:C1426947 Unspecified POLR1B +OMIM:602000 skos:exactMatch UMLS:C5394546 Unspecified POLR1B +OMIM:602000 skos:exactMatch HGNC_symbol:POLR1B Unspecified POLR1B +OMIM:604661 skos:exactMatch HGNC:15522 Unspecified KCNIP2 +OMIM:604661 skos:exactMatch HGNC_symbol:KCNIP2 Unspecified KCNIP2 +OMIM:604661 skos:exactMatch UMLS:C1423552 Unspecified KCNIP2 +OMIM:602001 skos:exactMatch HGNC_symbol:NPY5R Unspecified NPY5R +OMIM:602001 skos:exactMatch UMLS:C1417818 Unspecified NPY5R +OMIM:602001 skos:exactMatch HGNC:7958 Unspecified NPY5R +OMIM:604664 skos:exactMatch HGNC_symbol:IFI30 Unspecified IFI30 +OMIM:604664 skos:exactMatch UMLS:C1415888 Unspecified IFI30 +OMIM:604664 skos:exactMatch HGNC:5398 Unspecified IFI30 +OMIM:604663 skos:exactMatch UMLS:C1421516 Unspecified WNT6 +OMIM:604663 skos:exactMatch HGNC_symbol:WNT6 Unspecified WNT6 +OMIM:604663 skos:exactMatch HGNC:12785 Unspecified WNT6 +OMIM:602002 skos:exactMatch HGNC_symbol:ZYX Unspecified ZYX +OMIM:602002 skos:exactMatch UMLS:C1421874 Unspecified ZYX +OMIM:602002 skos:exactMatch HGNC:13200 Unspecified ZYX +OMIM:604644 skos:exactMatch HGNC_symbol:CA11 Unspecified CA11 +OMIM:604644 skos:exactMatch HGNC:1370 Unspecified CA11 +OMIM:604644 skos:exactMatch UMLS:C1413040 Unspecified CA11 +OMIM:265450 skos:exactMatch UMLS:C3887658 Unspecified pulmonary venoocclusive disease 1, autosomal dominant +OMIM:604643 skos:exactMatch HGNC:7901 Unspecified NPFF +OMIM:604643 skos:exactMatch UMLS:C1417780 Unspecified NPFF +OMIM:604643 skos:exactMatch HGNC_symbol:NPFF Unspecified NPFF +OMIM:604643 skos:exactMatch UMLS:C1858201 Unspecified NPFF +OMIM:300441 skos:exactMatch UMLS:C1423878 Unspecified SASH3 +OMIM:300441 skos:exactMatch HGNC_symbol:SASH3 Unspecified SASH3 +OMIM:300441 skos:exactMatch HGNC:15975 Unspecified SASH3 +OMIM:604646 skos:exactMatch HGNC_symbol:NUP50 Unspecified NUP50 +OMIM:604646 skos:exactMatch UMLS:C1417894 Unspecified NUP50 +OMIM:604646 skos:exactMatch HGNC:8065 Unspecified NUP50 +OMIM:300440 skos:exactMatch HGNC:19374 Unspecified NKRF +OMIM:300440 skos:exactMatch HGNC_symbol:NKRF Unspecified NKRF +OMIM:300440 skos:exactMatch UMLS:C1538066 Unspecified NKRF +OMIM:604645 skos:exactMatch UMLS:C1418432 Unspecified PDE7B +OMIM:604645 skos:exactMatch HGNC_symbol:PDE7B Unspecified PDE7B +OMIM:604645 skos:exactMatch HGNC:8792 Unspecified PDE7B +OMIM:157660 skos:exactMatch HGNC_symbol:RMRP Unspecified RMRP +OMIM:157660 skos:exactMatch UMLS:C1419396 Unspecified RMRP +OMIM:157660 skos:exactMatch HGNC:10031 Unspecified RMRP +OMIM:155000 skos:exactMatch UMLS:C1835088 Unspecified maxillofacial dysostosis +OMIM:300443 skos:exactMatch HGNC:11061 Unspecified SLC7A3 +OMIM:300443 skos:exactMatch UMLS:C1420223 Unspecified SLC7A3 +OMIM:300443 skos:exactMatch HGNC_symbol:SLC7A3 Unspecified SLC7A3 +OMIM:604648 skos:exactMatch HGNC:11593 Unspecified TBX10 +OMIM:604648 skos:exactMatch UMLS:C1420604 Unspecified TBX10 +OMIM:604648 skos:exactMatch HGNC_symbol:TBX10 Unspecified TBX10 +OMIM:604647 skos:exactMatch UMLS:C1539311 Unspecified CALY +OMIM:604647 skos:exactMatch HGNC_symbol:CALY Unspecified CALY +OMIM:604647 skos:exactMatch HGNC:17938 Unspecified CALY +OMIM:300445 skos:exactMatch UMLS:C1539628 Unspecified H2AB3 +OMIM:300445 skos:exactMatch HGNC_symbol:H2AB3 Unspecified H2AB3 +OMIM:300445 skos:exactMatch HGNC:14455 Unspecified H2AB3 +OMIM:300444 skos:exactMatch HGNC_symbol:SLC6A14 Unspecified SLC6A14 +OMIM:300444 skos:exactMatch HGNC:11047 Unspecified SLC6A14 +OMIM:300444 skos:exactMatch UMLS:C1420211 Unspecified SLC6A14 +OMIM:604649 skos:exactMatch HGNC:11581 Unspecified TBCD +OMIM:604649 skos:exactMatch UMLS:C1420596 Unspecified TBCD +OMIM:604649 skos:exactMatch HGNC_symbol:TBCD Unspecified TBCD +OMIM:300447 skos:exactMatch UMLS:C1845514 Unspecified RHOXF2 +OMIM:300447 skos:exactMatch HGNC_symbol:RHOXF2 Unspecified RHOXF2 +OMIM:300447 skos:exactMatch HGNC:30011 Unspecified RHOXF2 +OMIM:300446 skos:exactMatch UMLS:C1845515 Unspecified RHOXF1 +OMIM:300446 skos:exactMatch HGNC_symbol:RHOXF1 Unspecified RHOXF1 +OMIM:300446 skos:exactMatch HGNC:29993 Unspecified RHOXF1 +OMIM:194624 skos:exactMatch HGNC:12897 Unspecified ZNF117 +OMIM:194624 skos:exactMatch HGNC_symbol:ZNF117 Unspecified ZNF117 +OMIM:194624 skos:exactMatch UMLS:C1421605 Unspecified ZNF117 +OMIM:300448 skos:exactMatch UMLS:C0585216 Unspecified alpha-thalassemia myelodysplasia syndrome +OMIM:194628 skos:exactMatch UMLS:C1421612 Unspecified ZNF121 +OMIM:194628 skos:exactMatch HGNC:12904 Unspecified ZNF121 +OMIM:194628 skos:exactMatch HGNC_symbol:ZNF121 Unspecified ZNF121 +OMIM:616630 skos:exactMatch UMLS:C1826471 Unspecified NRSN1 +OMIM:616630 skos:exactMatch HGNC:17881 Unspecified NRSN1 +OMIM:616630 skos:exactMatch HGNC_symbol:NRSN1 Unspecified NRSN1 +OMIM:616631 skos:exactMatch UMLS:C4225262 Unspecified porokeratosis 9, multiple types +OMIM:616632 skos:exactMatch UMLS:C4225261 Unspecified seizures, cortical blindness, and microcephaly syndrome +OMIM:616622 skos:exactMatch UMLS:C4225266 Unspecified immunodeficiency 42 +OMIM:616623 skos:exactMatch HGNC:19955 Unspecified FAM30A +OMIM:616623 skos:exactMatch UMLS:C1426557 Unspecified FAM30A +OMIM:616623 skos:exactMatch HGNC_symbol:FAM30A Unspecified FAM30A +OMIM:616624 skos:exactMatch HGNC_symbol:NCBP3 Unspecified NCBP3 +OMIM:616624 skos:exactMatch HGNC:24612 Unspecified NCBP3 +OMIM:616624 skos:exactMatch UMLS:C1824477 Unspecified NCBP3 +OMIM:143030 skos:exactMatch HGNC_symbol:CD9 Unspecified CD9 +OMIM:143030 skos:exactMatch HGNC:1709 Unspecified CD9 +OMIM:143030 skos:exactMatch UMLS:C1413246 Unspecified CD9 +OMIM:616625 skos:exactMatch UMLS:C4225265 Unspecified charcot-marie-tooth disease, axonal, iia 2w +OMIM:312420 skos:exactMatch UMLS:C1419339 Unspecified RENBP +OMIM:312420 skos:exactMatch HGNC_symbol:RENBP Unspecified RENBP +OMIM:312420 skos:exactMatch HGNC:9959 Unspecified RENBP +OMIM:616626 skos:exactMatch HGNC:23723 Unspecified CERCAM +OMIM:616626 skos:exactMatch UMLS:C1428224 Unspecified CERCAM +OMIM:616626 skos:exactMatch HGNC_symbol:CERCAM Unspecified CERCAM +OMIM:616627 skos:exactMatch HGNC_symbol:PODXL2 Unspecified PODXL2 +OMIM:616627 skos:exactMatch UMLS:C1538690 Unspecified PODXL2 +OMIM:616627 skos:exactMatch HGNC:17936 Unspecified PODXL2 +OMIM:616628 skos:exactMatch HGNC_symbol:FAM220A Unspecified FAM220A +OMIM:616628 skos:exactMatch UMLS:C4225264 Unspecified FAM220A +OMIM:616628 skos:exactMatch UMLS:C2828851 Unspecified FAM220A +OMIM:616628 skos:exactMatch HGNC:22422 Unspecified FAM220A +OMIM:616629 skos:exactMatch UMLS:C4225263 Unspecified senior-loken syndrome 9 +OMIM:108700 skos:exactMatch UMLS:C1862440 Unspecified ataxia with fasciculations +OMIM:604651 skos:exactMatch UMLS:C1415037 Unspecified GDF7 +OMIM:604651 skos:exactMatch HGNC_symbol:GDF7 Unspecified GDF7 +OMIM:604651 skos:exactMatch HGNC:4222 Unspecified GDF7 +OMIM:604650 skos:exactMatch HGNC_symbol:IFIT3 Unspecified IFIT3 +OMIM:604650 skos:exactMatch UMLS:C1415895 Unspecified IFIT3 +OMIM:604650 skos:exactMatch HGNC:5411 Unspecified IFIT3 +OMIM:604653 skos:exactMatch HGNC:10909 Unspecified SLC40A1 +OMIM:604653 skos:exactMatch UMLS:C1456396 Unspecified SLC40A1 +OMIM:604653 skos:exactMatch HGNC_symbol:SLC40A1 Unspecified SLC40A1 +OMIM:604652 skos:exactMatch HGNC:11640 Unspecified TCF7L1 +OMIM:604652 skos:exactMatch UMLS:C1420643 Unspecified TCF7L1 +OMIM:604652 skos:exactMatch HGNC_symbol:TCF7L1 Unspecified TCF7L1 +OMIM:604633 skos:exactMatch HGNC:3219 Unspecified EFEMP2 +OMIM:604633 skos:exactMatch UMLS:C1414298 Unspecified EFEMP2 +OMIM:604633 skos:exactMatch HGNC_symbol:EFEMP2 Unspecified EFEMP2 +OMIM:604632 skos:exactMatch HGNC:25507 Unspecified VAC14 +OMIM:604632 skos:exactMatch UMLS:C1540172 Unspecified VAC14 +OMIM:604632 skos:exactMatch HGNC_symbol:VAC14 Unspecified VAC14 +OMIM:604635 skos:exactMatch HGNC_symbol:NXPH2 Unspecified NXPH2 +OMIM:604635 skos:exactMatch UMLS:C1417903 Unspecified NXPH2 +OMIM:604635 skos:exactMatch HGNC:8076 Unspecified NXPH2 +OMIM:604634 skos:exactMatch HGNC:11554 Unspecified TAGLN2 +OMIM:604634 skos:exactMatch UMLS:C1420579 Unspecified TAGLN2 +OMIM:604634 skos:exactMatch HGNC_symbol:TAGLN2 Unspecified TAGLN2 +OMIM:300410 skos:exactMatch HGNC_symbol:AMOT Unspecified AMOT +OMIM:300410 skos:exactMatch HGNC:17810 Unspecified AMOT +OMIM:300410 skos:exactMatch UMLS:C1425094 Unspecified AMOT +OMIM:604637 skos:exactMatch HGNC_symbol:NXPH4 Unspecified NXPH4 +OMIM:604637 skos:exactMatch UMLS:C1417905 Unspecified NXPH4 +OMIM:604637 skos:exactMatch HGNC:8078 Unspecified NXPH4 +OMIM:604636 skos:exactMatch HGNC_symbol:NXPH3 Unspecified NXPH3 +OMIM:604636 skos:exactMatch UMLS:C1417904 Unspecified NXPH3 +OMIM:604636 skos:exactMatch HGNC:8077 Unspecified NXPH3 +OMIM:604639 skos:exactMatch HGNC_symbol:NXPH1 Unspecified NXPH1 +OMIM:604639 skos:exactMatch UMLS:C1427081 Unspecified NXPH1 +OMIM:604639 skos:exactMatch HGNC:20693 Unspecified NXPH1 +OMIM:182610 skos:exactMatch UMLS:C1866854 Unspecified spastic paraplegia, epilepsy, and mental retardation +OMIM:604638 skos:exactMatch UMLS:C1412168 Unspecified ACTN4 +OMIM:604638 skos:exactMatch HGNC:166 Unspecified ACTN4 +OMIM:604638 skos:exactMatch HGNC_symbol:ACTN4 Unspecified ACTN4 +OMIM:300411 skos:exactMatch UMLS:C1425609 Unspecified TGIF2LX +OMIM:300411 skos:exactMatch HGNC:18570 Unspecified TGIF2LX +OMIM:300411 skos:exactMatch HGNC_symbol:TGIF2LX Unspecified TGIF2LX +OMIM:300414 skos:exactMatch UMLS:C1425343 Unspecified PHF6 +OMIM:300414 skos:exactMatch HGNC_symbol:PHF6 Unspecified PHF6 +OMIM:300414 skos:exactMatch HGNC:18145 Unspecified PHF6 +OMIM:300413 skos:exactMatch HGNC_symbol:MBNL3 Unspecified MBNL3 +OMIM:300413 skos:exactMatch UMLS:C1427004 Unspecified MBNL3 +OMIM:300413 skos:exactMatch HGNC:20564 Unspecified MBNL3 +OMIM:300416 skos:exactMatch UMLS:C1538119 Unspecified XAGE2 +OMIM:300416 skos:exactMatch HGNC:4112 Unspecified XAGE2 +OMIM:300416 skos:exactMatch HGNC_symbol:XAGE2 Unspecified XAGE2 +OMIM:300415 skos:exactMatch HGNC_symbol:MTM1 Unspecified MTM1 +OMIM:300415 skos:exactMatch HGNC:7448 Unspecified MTM1 +OMIM:300415 skos:exactMatch UMLS:C1417434 Unspecified MTM1 +OMIM:300418 skos:exactMatch HGNC_symbol:GSPT2 Unspecified GSPT2 +OMIM:300418 skos:exactMatch HGNC:4622 Unspecified GSPT2 +OMIM:300418 skos:exactMatch UMLS:C1415325 Unspecified GSPT2 +OMIM:300417 skos:exactMatch UMLS:C1539612 Unspecified GPRASP1 +OMIM:300417 skos:exactMatch HGNC:24834 Unspecified GPRASP1 +OMIM:300417 skos:exactMatch HGNC_symbol:GPRASP1 Unspecified GPRASP1 +OMIM:616620 skos:exactMatch UMLS:C1422404 Unspecified WDR12 +OMIM:616620 skos:exactMatch HGNC_symbol:WDR12 Unspecified WDR12 +OMIM:616620 skos:exactMatch HGNC:14098 Unspecified WDR12 +OMIM:300419 skos:exactMatch UMLS:C0796244 Unspecified intellectual developmental disorder, X-linked 29 +OMIM:300419 skos:exactMatch ORPHA:777 Unspecified intellectual developmental disorder, X-linked 29 +OMIM:616621 skos:exactMatch UMLS:C1423765 Unspecified DDX27 +OMIM:616621 skos:exactMatch HGNC_symbol:DDX27 Unspecified DDX27 +OMIM:616621 skos:exactMatch HGNC:15837 Unspecified DDX27 +OMIM:143040 skos:exactMatch UMLS:C1840473 Unspecified None +OMIM:616611 skos:exactMatch HGNC:42810 Unspecified LINC00461 +OMIM:616611 skos:exactMatch UMLS:C3470764 Unspecified LINC00461 +OMIM:616611 skos:exactMatch HGNC_symbol:LINC00461 Unspecified LINC00461 +OMIM:616612 skos:exactMatch HGNC:38501 Unspecified COL6A4P2 +OMIM:616612 skos:exactMatch UMLS:C3146960 Unspecified COL6A4P2 +OMIM:616612 skos:exactMatch HGNC_symbol:COL6A4P2 Unspecified COL6A4P2 +OMIM:616613 skos:exactMatch UMLS:C2829172 Unspecified COL6A6 +OMIM:616613 skos:exactMatch HGNC_symbol:COL6A6 Unspecified COL6A6 +OMIM:616613 skos:exactMatch HGNC:27023 Unspecified COL6A6 +OMIM:616614 skos:exactMatch HGNC_symbol:HPF1 Unspecified HPF1 +OMIM:616614 skos:exactMatch UMLS:C1824170 Unspecified HPF1 +OMIM:616614 skos:exactMatch HGNC:26051 Unspecified HPF1 +OMIM:616615 skos:exactMatch UMLS:C2239313 Unspecified CSGALNACT1 +OMIM:616615 skos:exactMatch UMLS:C5394341 Unspecified CSGALNACT1 +OMIM:616615 skos:exactMatch HGNC:24290 Unspecified CSGALNACT1 +OMIM:616615 skos:exactMatch HGNC_symbol:CSGALNACT1 Unspecified CSGALNACT1 +OMIM:616616 skos:exactMatch UMLS:C2239314 Unspecified CSGALNACT2 +OMIM:616616 skos:exactMatch HGNC:24292 Unspecified CSGALNACT2 +OMIM:616616 skos:exactMatch HGNC_symbol:CSGALNACT2 Unspecified CSGALNACT2 +OMIM:616617 skos:exactMatch ORPHA:3220 Unspecified heimler syndrome 2 +OMIM:616617 skos:exactMatch UMLS:C4225267 Unspecified heimler syndrome 2 +OMIM:616618 skos:exactMatch UMLS:C5394315 Unspecified ACBD5 +OMIM:616618 skos:exactMatch HGNC_symbol:ACBD5 Unspecified ACBD5 +OMIM:616618 skos:exactMatch HGNC:23338 Unspecified ACBD5 +OMIM:616618 skos:exactMatch UMLS:C1428043 Unspecified ACBD5 +OMIM:616619 skos:exactMatch HGNC_symbol:DUBR Unspecified DUBR +OMIM:616619 skos:exactMatch UMLS:C4085160 Unspecified DUBR +OMIM:616619 skos:exactMatch HGNC:48569 Unspecified DUBR +OMIM:604640 skos:exactMatch HGNC_symbol:TLX3 Unspecified TLX3 +OMIM:604640 skos:exactMatch HGNC:13532 Unspecified TLX3 +OMIM:604640 skos:exactMatch UMLS:C1422043 Unspecified TLX3 +OMIM:604642 skos:exactMatch HGNC_symbol:CA10 Unspecified CA10 +OMIM:604642 skos:exactMatch HGNC:1369 Unspecified CA10 +OMIM:604642 skos:exactMatch UMLS:C1413039 Unspecified CA10 +OMIM:604641 skos:exactMatch HGNC:6882 Unspecified MAPK8IP1 +OMIM:604641 skos:exactMatch UMLS:C1417024 Unspecified MAPK8IP1 +OMIM:604641 skos:exactMatch UMLS:C3837967 Unspecified MAPK8IP1 +OMIM:604641 skos:exactMatch HGNC_symbol:MAPK8IP1 Unspecified MAPK8IP1 +OMIM:157680 skos:exactMatch UMLS:C1413259 Unspecified CDC25C +OMIM:157680 skos:exactMatch HGNC:1727 Unspecified CDC25C +OMIM:157680 skos:exactMatch HGNC_symbol:CDC25C Unspecified CDC25C +OMIM:604621 skos:exactMatch UMLS:C1417135 Unspecified MGAT3 +OMIM:604621 skos:exactMatch HGNC_symbol:MGAT3 Unspecified MGAT3 +OMIM:604621 skos:exactMatch HGNC:7046 Unspecified MGAT3 +OMIM:604624 skos:exactMatch HGNC_symbol:HSPB3 Unspecified HSPB3 +OMIM:604624 skos:exactMatch HGNC:5248 Unspecified HSPB3 +OMIM:604624 skos:exactMatch UMLS:C1415769 Unspecified HSPB3 +OMIM:604623 skos:exactMatch UMLS:C1417136 Unspecified MGAT4A +OMIM:604623 skos:exactMatch HGNC:7047 Unspecified MGAT4A +OMIM:604623 skos:exactMatch HGNC_symbol:MGAT4A Unspecified MGAT4A +OMIM:604626 skos:exactMatch HGNC_symbol:ME3 Unspecified ME3 +OMIM:604626 skos:exactMatch UMLS:C1417094 Unspecified ME3 +OMIM:604626 skos:exactMatch HGNC:6985 Unspecified ME3 +OMIM:604625 skos:exactMatch UMLS:C1970291 Unspecified tooth agenesis, selective, 3 +OMIM:300420 skos:exactMatch UMLS:C1424463 Unspecified PJA1 +OMIM:300420 skos:exactMatch HGNC_symbol:PJA1 Unspecified PJA1 +OMIM:300420 skos:exactMatch HGNC:16648 Unspecified PJA1 +OMIM:265430 skos:exactMatch UMLS:C0456891 Unspecified pulmonary hypoplasia, primary +OMIM:604628 skos:exactMatch UMLS:C1334107 Unspecified IL17C +OMIM:604628 skos:exactMatch HGNC_symbol:IL17C Unspecified IL17C +OMIM:604628 skos:exactMatch HGNC:5983 Unspecified IL17C +OMIM:300423 skos:exactMatch ORPHA:93952 Unspecified intellectual developmental disorder, x-linked, syndromic, hedera iia +OMIM:300423 skos:exactMatch ORPHA:2076 Unspecified intellectual developmental disorder, x-linked, syndromic, hedera iia +OMIM:300423 skos:exactMatch UMLS:C1845543 Unspecified intellectual developmental disorder, x-linked, syndromic, hedera iia +OMIM:300422 skos:exactMatch UMLS:C1845546 Unspecified fg syndrome 4 +OMIM:300422 skos:exactMatch UMLS:C3275356 Unspecified fg syndrome 4 +OMIM:604627 skos:exactMatch HGNC_symbol:IL17B Unspecified IL17B +OMIM:604627 skos:exactMatch HGNC:5982 Unspecified IL17B +OMIM:604627 skos:exactMatch UMLS:C1416389 Unspecified IL17B +OMIM:300425 skos:exactMatch UMLS:C1845540 Unspecified autism, susceptibility to, X-linked 1 +OMIM:604629 skos:exactMatch HGNC:7167 Unspecified MMP20 +OMIM:604629 skos:exactMatch HGNC_symbol:MMP20 Unspecified MMP20 +OMIM:604629 skos:exactMatch UMLS:C1417208 Unspecified MMP20 +OMIM:300424 skos:exactMatch UMLS:C1419610 Unspecified retinitis pigmentosa 23 +OMIM:300424 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 23 +OMIM:300427 skos:exactMatch HGNC_symbol:NLGN4X Unspecified NLGN4 +OMIM:300427 skos:exactMatch HGNC:14287 Unspecified NLGN4 +OMIM:300427 skos:exactMatch UMLS:C1136249 Unspecified NLGN4 +OMIM:300427 skos:exactMatch UMLS:C1845539 Unspecified NLGN4 +OMIM:300427 skos:exactMatch UMLS:C1538067 Unspecified NLGN4 +OMIM:300427 skos:exactMatch UMLS:C3151722 Unspecified NLGN4 +OMIM:167000 skos:exactMatch UMLS:C1140680 Unspecified ovarian cancer +OMIM:167000 skos:exactMatch UMLS:C0677886 Unspecified ovarian cancer +OMIM:300429 skos:exactMatch HGNC_symbol:ARHGEF9 Unspecified ARHGEF9 +OMIM:300429 skos:exactMatch HGNC:14561 Unspecified ARHGEF9 +OMIM:300429 skos:exactMatch UMLS:C1845102 Unspecified ARHGEF9 +OMIM:300429 skos:exactMatch UMLS:C1422758 Unspecified ARHGEF9 +OMIM:300428 skos:exactMatch UMLS:C0796207 Unspecified intellectual developmental disorder, X-linked 2 +OMIM:143060 skos:exactMatch UMLS:C1840472 Unspecified MIC6 +OMIM:616610 skos:exactMatch HGNC_symbol:CASC15 Unspecified CASC15 +OMIM:616610 skos:exactMatch HGNC:28245 Unspecified CASC15 +OMIM:616610 skos:exactMatch UMLS:C3811556 Unspecified CASC15 +OMIM:616600 skos:exactMatch HGNC:23516 Unspecified BORCS7 +OMIM:616600 skos:exactMatch UMLS:C1428118 Unspecified BORCS7 +OMIM:616600 skos:exactMatch HGNC_symbol:BORCS7 Unspecified BORCS7 +OMIM:616601 skos:exactMatch HGNC:37247 Unspecified BORCS8 +OMIM:616601 skos:exactMatch UMLS:C4085290 Unspecified BORCS8 +OMIM:616601 skos:exactMatch HGNC_symbol:BORCS8 Unspecified BORCS8 +OMIM:143050 skos:exactMatch UMLS:C2930865 Unspecified humeroradial synostosis +OMIM:616602 skos:exactMatch ORPHA:63440 Unspecified craniosynostosis 6 +OMIM:616602 skos:exactMatch UMLS:C4225269 Unspecified craniosynostosis 6 +OMIM:616602 skos:exactMatch ORPHA:35099 Unspecified craniosynostosis 6 +OMIM:616602 skos:exactMatch ORPHA:35098 Unspecified craniosynostosis 6 +OMIM:616603 skos:exactMatch UMLS:C4225268 Unspecified cutis laxa, autosomal dominant 3 +OMIM:616604 skos:exactMatch UMLS:C4225449 Unspecified chromosome 14q32 duplication syndrome, 700-kb +OMIM:277410 skos:exactMatch UMLS:C1848554 Unspecified methylmalonic aciduria and homocystinuria, cbld iia +OMIM:277410 skos:exactMatch UMLS:C1848553 Unspecified methylmalonic aciduria and homocystinuria, cbld iia +OMIM:277410 skos:exactMatch UMLS:C1848552 Unspecified methylmalonic aciduria and homocystinuria, cbld iia +OMIM:143055 skos:exactMatch HGNC:1599 Unspecified CCNT1 +OMIM:143055 skos:exactMatch UMLS:C1413185 Unspecified CCNT1 +OMIM:143055 skos:exactMatch HGNC_symbol:CCNT1 Unspecified CCNT1 +OMIM:143054 skos:exactMatch HGNC_symbol:HIVEP2 Unspecified HIVEP2 +OMIM:143054 skos:exactMatch UMLS:C1415553 Unspecified HIVEP2 +OMIM:143054 skos:exactMatch HGNC:4921 Unspecified HIVEP2 +OMIM:616605 skos:exactMatch UMLS:C1423043 Unspecified GSKIP +OMIM:616605 skos:exactMatch HGNC_symbol:GSKIP Unspecified GSKIP +OMIM:616605 skos:exactMatch HGNC:20343 Unspecified GSKIP +OMIM:170650 skos:exactMatch UMLS:C0031106 Unspecified periodontitis, aggressive, 1 +OMIM:170650 skos:exactMatch UMLS:C4551681 Unspecified periodontitis, aggressive, 1 +OMIM:616606 skos:exactMatch UMLS:C2930916 Unspecified ring chromosome 14 syndrome +OMIM:616607 skos:exactMatch HGNC_symbol:KBTBD8 Unspecified KBTBD8 +OMIM:616607 skos:exactMatch HGNC:30691 Unspecified KBTBD8 +OMIM:616607 skos:exactMatch UMLS:C1825642 Unspecified KBTBD8 +OMIM:616608 skos:exactMatch HGNC:25052 Unspecified MACIR +OMIM:616608 skos:exactMatch HGNC_symbol:MACIR Unspecified MACIR +OMIM:616608 skos:exactMatch UMLS:C1824191 Unspecified MACIR +OMIM:616609 skos:exactMatch UMLS:C1823329 Unspecified TMEM65 +OMIM:616609 skos:exactMatch HGNC_symbol:TMEM65 Unspecified TMEM65 +OMIM:616609 skos:exactMatch HGNC:25203 Unspecified TMEM65 +OMIM:604631 skos:exactMatch UMLS:C1424634 Unspecified VAT1 +OMIM:604631 skos:exactMatch HGNC_symbol:VAT1 Unspecified VAT1 +OMIM:604631 skos:exactMatch HGNC:16919 Unspecified VAT1 +OMIM:604630 skos:exactMatch HGNC:7961 Unspecified NR0B2 +OMIM:604630 skos:exactMatch UMLS:C1334896 Unspecified NR0B2 +OMIM:604630 skos:exactMatch HGNC_symbol:NR0B2 Unspecified NR0B2 +OMIM:604699 skos:exactMatch HGNC:662 Unspecified ARFRP1 +OMIM:604699 skos:exactMatch HGNC_symbol:ARFRP1 Unspecified ARFRP1 +OMIM:604699 skos:exactMatch UMLS:C1412514 Unspecified ARFRP1 +OMIM:300472 skos:exactMatch UMLS:C1845446 Unspecified corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia +OMIM:602037 skos:exactMatch HGNC:686 Unspecified RHOH +OMIM:602037 skos:exactMatch HGNC_symbol:RHOH Unspecified RHOH +OMIM:602037 skos:exactMatch UMLS:C1332112 Unspecified RHOH +OMIM:604698 skos:exactMatch UMLS:C1332070 Unspecified AKAP12 +OMIM:604698 skos:exactMatch HGNC_symbol:AKAP12 Unspecified AKAP12 +OMIM:604698 skos:exactMatch HGNC:370 Unspecified AKAP12 +OMIM:300471 skos:exactMatch UMLS:C1845450 Unspecified cubitus valgus with impaired intellectual development and unusual facies +OMIM:602038 skos:exactMatch HGNC_symbol:DUSP8 Unspecified DUSP8 +OMIM:602038 skos:exactMatch UMLS:C1414189 Unspecified DUSP8 +OMIM:602038 skos:exactMatch HGNC:3074 Unspecified DUSP8 +OMIM:300474 skos:exactMatch UMLS:C1415082 Unspecified GK +OMIM:300474 skos:exactMatch HGNC_symbol:GK Unspecified GK +OMIM:300474 skos:exactMatch HGNC:4289 Unspecified GK +OMIM:602039 skos:exactMatch UMLS:C1414338 Unspecified EIF3A +OMIM:602039 skos:exactMatch HGNC_symbol:EIF3A Unspecified EIF3A +OMIM:602039 skos:exactMatch HGNC:3271 Unspecified EIF3A +OMIM:300473 skos:exactMatch UMLS:C1417820 Unspecified NR0B1 +OMIM:300473 skos:exactMatch HGNC_symbol:NR0B1 Unspecified NR0B1 +OMIM:300473 skos:exactMatch HGNC:7960 Unspecified NR0B1 +OMIM:300476 skos:exactMatch UMLS:C1845407 Unspecified cone-rod dystrophy, x-linked, 3 +OMIM:300475 skos:exactMatch UMLS:C3806634 Unspecified deafness, dystonia, and cerebral hypomyelination +OMIM:300475 skos:exactMatch UMLS:C1845408 Unspecified deafness, dystonia, and cerebral hypomyelination +OMIM:300478 skos:exactMatch HGNC_symbol:FAM9B Unspecified FAM9B +OMIM:300478 skos:exactMatch HGNC:18404 Unspecified FAM9B +OMIM:300478 skos:exactMatch UMLS:C1425500 Unspecified FAM9B +OMIM:300477 skos:exactMatch HGNC_symbol:FAM9A Unspecified FAM9A +OMIM:300477 skos:exactMatch HGNC:18403 Unspecified FAM9A +OMIM:300477 skos:exactMatch UMLS:C1425499 Unspecified FAM9A +OMIM:616680 skos:exactMatch UMLS:C4225250 Unspecified spastic paraplegia 75, autosomal recessive +OMIM:616681 skos:exactMatch UMLS:C4225249 Unspecified microcephaly 16, primary, autosomal recessive +OMIM:300479 skos:exactMatch HGNC_symbol:FAM9C Unspecified FAM9C +OMIM:300479 skos:exactMatch HGNC:18405 Unspecified FAM9C +OMIM:300479 skos:exactMatch UMLS:C1425501 Unspecified FAM9C +OMIM:616682 skos:exactMatch UMLS:C4225248 Unspecified seizures, scoliosis, and macrocephaly/microcephaly syndrome +OMIM:614019 skos:exactMatch ORPHA:1083 Unspecified lissencephaly 4 +OMIM:614019 skos:exactMatch UMLS:C3151461 Unspecified lissencephaly 4 +OMIM:616683 skos:exactMatch UMLS:C4225247 Unspecified leukodystrophy, hypomyelinating, 12 +OMIM:614018 skos:exactMatch UMLS:C3279627 Unspecified epilepsy, progressive myoclonic, 6 +OMIM:616684 skos:exactMatch UMLS:C4225246 Unspecified charcot-marie-tooth disease, iia 4k +OMIM:616685 skos:exactMatch UMLS:C4225245 Unspecified epilepsy, idiopathic generalized, susceptibility to, 14 +OMIM:614017 skos:exactMatch UMLS:C3151460 Unspecified ciliary dyskinesia, primary, 16 +OMIM:614016 skos:exactMatch HGNC_symbol:DAGLB Unspecified DAGLB +OMIM:614016 skos:exactMatch HGNC:28923 Unspecified DAGLB +OMIM:614016 skos:exactMatch UMLS:C2239329 Unspecified DAGLB +OMIM:616686 skos:exactMatch HGNC:16918 Unspecified SYNCRIP +OMIM:616686 skos:exactMatch UMLS:C1424633 Unspecified SYNCRIP +OMIM:616686 skos:exactMatch HGNC_symbol:SYNCRIP Unspecified SYNCRIP +OMIM:167030 skos:exactMatch UMLS:C1833683 Unspecified nephrolithiasis, calcium oxalate +OMIM:614015 skos:exactMatch HGNC_symbol:DAGLA Unspecified DAGLA +OMIM:614015 skos:exactMatch HGNC:1165 Unspecified DAGLA +OMIM:614015 skos:exactMatch UMLS:C1412864 Unspecified DAGLA +OMIM:616687 skos:exactMatch UMLS:C4225244 Unspecified charcot-marie-tooth disease, axonal, iia 2y +OMIM:616677 skos:exactMatch UMLS:C1825746 Unspecified KRT28 +OMIM:616677 skos:exactMatch HGNC_symbol:KRT28 Unspecified KRT28 +OMIM:616677 skos:exactMatch HGNC:30842 Unspecified KRT28 +OMIM:614025 skos:exactMatch UMLS:C3151466 Unspecified hepatic lipase deficiency +OMIM:167040 skos:exactMatch HGNC:8503 Unspecified OSBP +OMIM:167040 skos:exactMatch UMLS:C1418188 Unspecified OSBP +OMIM:167040 skos:exactMatch HGNC_symbol:OSBP Unspecified OSBP +OMIM:614024 skos:exactMatch UMLS:C3151465 Unspecified protein z deficiency +OMIM:616678 skos:exactMatch UMLS:C1825755 Unspecified KRT39 +OMIM:616678 skos:exactMatch HGNC:32971 Unspecified KRT39 +OMIM:616678 skos:exactMatch HGNC_symbol:KRT39 Unspecified KRT39 +OMIM:616679 skos:exactMatch UMLS:C1825756 Unspecified KRT40 +OMIM:616679 skos:exactMatch HGNC_symbol:KRT40 Unspecified KRT40 +OMIM:616679 skos:exactMatch HGNC:26707 Unspecified KRT40 +OMIM:614023 skos:exactMatch UMLS:C1291463 Unspecified phosphoserine phosphatase deficiency +OMIM:614022 skos:exactMatch UMLS:C3151464 Unspecified atrial fibrillation, familial, 10 +OMIM:614022 skos:exactMatch ORPHA:334 Unspecified atrial fibrillation, familial, 10 +OMIM:614021 skos:exactMatch ORPHA:3286 Unspecified ventricular tachycardia, catecholaminergic polymorphic, 3 +OMIM:614021 skos:exactMatch UMLS:C3151463 Unspecified ventricular tachycardia, catecholaminergic polymorphic, 3 +OMIM:277400 skos:exactMatch UMLS:C1848561 Unspecified methylmalonic aciduria and homocystinuria, cblc iia +OMIM:277400 skos:exactMatch UMLS:C4693974 Unspecified methylmalonic aciduria and homocystinuria, cblc iia +OMIM:614020 skos:exactMatch UMLS:C3151462 Unspecified intellectual developmental disorder, autosomal recessive 14 +OMIM:602040 skos:exactMatch HGNC:7657 Unspecified NCAM2 +OMIM:602040 skos:exactMatch HGNC_symbol:NCAM2 Unspecified NCAM2 +OMIM:602040 skos:exactMatch UMLS:C1417605 Unspecified NCAM2 +OMIM:602041 skos:exactMatch UMLS:C1334882 Unspecified NKX3-1 +OMIM:602041 skos:exactMatch HGNC:7838 Unspecified NKX3-1 +OMIM:602041 skos:exactMatch HGNC_symbol:NKX3-1 Unspecified NKX3-1 +OMIM:602042 skos:exactMatch HGNC_symbol:GPR18 Unspecified GPR18 +OMIM:602042 skos:exactMatch HGNC:4472 Unspecified GPR18 +OMIM:602042 skos:exactMatch UMLS:C1415211 Unspecified GPR18 +OMIM:602043 skos:exactMatch HGNC_symbol:GPR31 Unspecified GPR31 +OMIM:602043 skos:exactMatch HGNC:4486 Unspecified GPR31 +OMIM:602043 skos:exactMatch UMLS:C1415224 Unspecified GPR31 +OMIM:602044 skos:exactMatch HGNC:12519 Unspecified UCP3 +OMIM:602044 skos:exactMatch UMLS:C1421315 Unspecified UCP3 +OMIM:602044 skos:exactMatch HGNC_symbol:UCP3 Unspecified UCP3 +OMIM:300481 skos:exactMatch UMLS:C1413844 Unspecified CYBB +OMIM:300481 skos:exactMatch UMLS:C1970859 Unspecified CYBB +OMIM:300481 skos:exactMatch UMLS:C4016486 Unspecified CYBB +OMIM:300481 skos:exactMatch UMLS:C1844376 Unspecified CYBB +OMIM:300481 skos:exactMatch HGNC_symbol:CYBB Unspecified CYBB +OMIM:300481 skos:exactMatch HGNC:2578 Unspecified CYBB +OMIM:602045 skos:exactMatch HGNC_symbol:RING1 Unspecified RING1 +OMIM:602045 skos:exactMatch UMLS:C1419389 Unspecified RING1 +OMIM:602045 skos:exactMatch HGNC:10018 Unspecified RING1 +OMIM:300480 skos:exactMatch HGNC:30681 Unspecified TAB3 +OMIM:300480 skos:exactMatch HGNC_symbol:TAB3 Unspecified TAB3 +OMIM:300480 skos:exactMatch UMLS:C1825944 Unspecified TAB3 +OMIM:179010 skos:exactMatch UMLS:C1867403 Unspecified pyloric stenosis, infantile hypertrophic, 1 +OMIM:602046 skos:exactMatch HGNC_symbol:PDIA3 Unspecified PDIA3 +OMIM:602046 skos:exactMatch UMLS:C1538607 Unspecified PDIA3 +OMIM:602046 skos:exactMatch HGNC:4606 Unspecified PDIA3 +OMIM:604688 skos:exactMatch HGNC:375 Unspecified AKAP5 +OMIM:604688 skos:exactMatch UMLS:C1412317 Unspecified AKAP5 +OMIM:604688 skos:exactMatch HGNC_symbol:AKAP5 Unspecified AKAP5 +OMIM:602025 skos:exactMatch UMLS:C2677162 Unspecified body mass index quantitative trait locus 9 +OMIM:602026 skos:exactMatch HGNC:8940 Unspecified PHYH +OMIM:602026 skos:exactMatch HGNC_symbol:PHYH Unspecified PHYH +OMIM:602026 skos:exactMatch UMLS:C1418543 Unspecified PHYH +OMIM:300482 skos:exactMatch HGNC_symbol:GAB3 Unspecified GAB3 +OMIM:300482 skos:exactMatch UMLS:C1424989 Unspecified GAB3 +OMIM:300482 skos:exactMatch HGNC:17515 Unspecified GAB3 +OMIM:604687 skos:exactMatch HGNC:9591 Unspecified PTGDR +OMIM:604687 skos:exactMatch HGNC_symbol:PTGDR Unspecified PTGDR +OMIM:604687 skos:exactMatch UMLS:C1419059 Unspecified PTGDR +OMIM:602027 skos:exactMatch HGNC:11729 Unspecified TERF2 +OMIM:602027 skos:exactMatch UMLS:C1336605 Unspecified TERF2 +OMIM:602027 skos:exactMatch HGNC_symbol:TERF2 Unspecified TERF2 +OMIM:300485 skos:exactMatch UMLS:C1427193 Unspecified BCOR +OMIM:300485 skos:exactMatch HGNC_symbol:BCOR Unspecified BCOR +OMIM:300485 skos:exactMatch HGNC:20893 Unspecified BCOR +OMIM:300485 skos:exactMatch UMLS:C3550814 Unspecified BCOR +OMIM:180020 skos:exactMatch UMLS:C1867326 Unspecified retinal cone dystrophy 1 +OMIM:300484 skos:exactMatch UMLS:C0152096 Unspecified orofaciodigital syndrome 8 +OMIM:300484 skos:exactMatch UMLS:C0796101 Unspecified orofaciodigital syndrome 8 +OMIM:300484 skos:exactMatch ORPHA:2755 Unspecified orofaciodigital syndrome 8 +OMIM:604689 skos:exactMatch HGNC:373 Unspecified AKAP3 +OMIM:604689 skos:exactMatch UMLS:C1412315 Unspecified AKAP3 +OMIM:604689 skos:exactMatch HGNC_symbol:AKAP3 Unspecified AKAP3 +OMIM:300487 skos:exactMatch HGNC_symbol:ACTRT1 Unspecified ACTRT1 +OMIM:300487 skos:exactMatch HGNC:24027 Unspecified ACTRT1 +OMIM:300487 skos:exactMatch UMLS:C1826404 Unspecified ACTRT1 +OMIM:300486 skos:exactMatch UMLS:C1845366 Unspecified intellectual developmental disorder, x-linked, syndromic, billuart iia +OMIM:300489 skos:exactMatch UMLS:C1845359 Unspecified spinal muscular atrophy, distal, X-linked 3 +OMIM:300488 skos:exactMatch UMLS:C1970897 Unspecified menopause, natural, age at, quantitative trait locus 1 +OMIM:616670 skos:exactMatch UMLS:C1539471 Unspecified ESYT1 +OMIM:616670 skos:exactMatch HGNC_symbol:ESYT1 Unspecified ESYT1 +OMIM:616670 skos:exactMatch HGNC:29534 Unspecified ESYT1 +OMIM:616671 skos:exactMatch HGNC_symbol:KRT76 Unspecified KRT76 +OMIM:616671 skos:exactMatch HGNC:24430 Unspecified KRT76 +OMIM:616671 skos:exactMatch UMLS:C1825764 Unspecified KRT76 +OMIM:614009 skos:exactMatch UMLS:C3279614 Unspecified bleeding disorder, platelet-type, 13, susceptibility to +OMIM:614008 skos:exactMatch UMLS:C3151446 Unspecified nestor-guillermo progeria syndrome +OMIM:616672 skos:exactMatch UMLS:C4225251 Unspecified combined oxidative phosphorylation deficiency 27 +OMIM:616673 skos:exactMatch HGNC:28109 Unspecified SKA1 +OMIM:616673 skos:exactMatch HGNC_symbol:SKA1 Unspecified SKA1 +OMIM:616673 skos:exactMatch UMLS:C1540267 Unspecified SKA1 +OMIM:614007 skos:exactMatch UMLS:C1826378 Unspecified NBPF20 +OMIM:614007 skos:exactMatch HGNC_symbol:NBPF20 Unspecified NBPF20 +OMIM:614007 skos:exactMatch HGNC:32000 Unspecified NBPF20 +OMIM:616674 skos:exactMatch UMLS:C1428662 Unspecified SKA2 +OMIM:616674 skos:exactMatch HGNC:28006 Unspecified SKA2 +OMIM:616674 skos:exactMatch HGNC_symbol:SKA2 Unspecified SKA2 +OMIM:614006 skos:exactMatch UMLS:C1826377 Unspecified NBPF19 +OMIM:614006 skos:exactMatch HGNC_symbol:NBPF19 Unspecified NBPF19 +OMIM:614006 skos:exactMatch HGNC:31999 Unspecified NBPF19 +OMIM:614005 skos:exactMatch UMLS:C1826374 Unspecified +OMIM:616675 skos:exactMatch UMLS:C1825744 Unspecified KRT26 +OMIM:616675 skos:exactMatch HGNC_symbol:KRT26 Unspecified KRT26 +OMIM:616675 skos:exactMatch HGNC:30840 Unspecified KRT26 +OMIM:616676 skos:exactMatch UMLS:C1825745 Unspecified KRT27 +OMIM:616676 skos:exactMatch HGNC_symbol:KRT27 Unspecified KRT27 +OMIM:616676 skos:exactMatch HGNC:30841 Unspecified KRT27 +OMIM:616666 skos:exactMatch HGNC_symbol:SEZ6 Unspecified SEZ6 +OMIM:616666 skos:exactMatch HGNC:15955 Unspecified SEZ6 +OMIM:616666 skos:exactMatch UMLS:C1423859 Unspecified SEZ6 +OMIM:614014 skos:exactMatch HGNC:20673 Unspecified RNASE9 +OMIM:614014 skos:exactMatch HGNC_symbol:RNASE9 Unspecified RNASE9 +OMIM:614014 skos:exactMatch UMLS:C1538849 Unspecified RNASE9 +OMIM:614013 skos:exactMatch HGNC:31828 Unspecified ERVK-7 +OMIM:614013 skos:exactMatch UMLS:C1539364 Unspecified ERVK-7 +OMIM:614013 skos:exactMatch HGNC_symbol:ERVK-7 Unspecified ERVK-7 +OMIM:616667 skos:exactMatch HGNC_symbol:SEZ6L2 Unspecified SEZ6L2 +OMIM:616667 skos:exactMatch HGNC:30844 Unspecified SEZ6L2 +OMIM:616667 skos:exactMatch UMLS:C1539758 Unspecified SEZ6L2 +OMIM:614012 skos:exactMatch HGNC:13757 Unspecified ERVK-5 +OMIM:614012 skos:exactMatch UMLS:C1422185 Unspecified ERVK-5 +OMIM:614012 skos:exactMatch HGNC_symbol:ERVK-5 Unspecified ERVK-5 +OMIM:616668 skos:exactMatch UMLS:C4225253 Unspecified charcot-marie-tooth disease, axonal, iia 2x +OMIM:614011 skos:exactMatch HGNC:13756 Unspecified ERVK-4 +OMIM:614011 skos:exactMatch UMLS:C1422184 Unspecified ERVK-4 +OMIM:614011 skos:exactMatch HGNC_symbol:ERVK-4 Unspecified ERVK-4 +OMIM:616669 skos:exactMatch UMLS:C4225252 Unspecified immunodeficiency 45 +OMIM:614010 skos:exactMatch HGNC:26019 Unspecified IMPAD1 +OMIM:614010 skos:exactMatch HGNC_symbol:BPNT2 Unspecified IMPAD1 +OMIM:614010 skos:exactMatch UMLS:C1825599 Unspecified IMPAD1 +OMIM:604691 skos:exactMatch UMLS:C1412318 Unspecified AKAP6 +OMIM:604691 skos:exactMatch HGNC_symbol:AKAP6 Unspecified AKAP6 +OMIM:604691 skos:exactMatch HGNC:376 Unspecified AKAP6 +OMIM:604690 skos:exactMatch UMLS:C1858182 Unspecified growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia +OMIM:602030 skos:exactMatch HGNC_symbol:FUT7 Unspecified FUT7 +OMIM:602030 skos:exactMatch UMLS:C1414868 Unspecified FUT7 +OMIM:602030 skos:exactMatch HGNC:4018 Unspecified FUT7 +OMIM:604693 skos:exactMatch UMLS:C1412319 Unspecified AKAP7 +OMIM:604693 skos:exactMatch HGNC_symbol:AKAP7 Unspecified AKAP7 +OMIM:604693 skos:exactMatch HGNC:377 Unspecified AKAP7 +OMIM:602031 skos:exactMatch HGNC:8895 Unspecified PGGT1B +OMIM:602031 skos:exactMatch UMLS:C1418507 Unspecified PGGT1B +OMIM:602031 skos:exactMatch HGNC_symbol:PGGT1B Unspecified PGGT1B +OMIM:604692 skos:exactMatch UMLS:C1412320 Unspecified AKAP8 +OMIM:604692 skos:exactMatch HGNC_symbol:AKAP8 Unspecified AKAP8 +OMIM:604692 skos:exactMatch HGNC:378 Unspecified AKAP8 +OMIM:604695 skos:exactMatch UMLS:C1412538 Unspecified ARL3 +OMIM:604695 skos:exactMatch HGNC_symbol:ARL3 Unspecified ARL3 +OMIM:604695 skos:exactMatch UMLS:C4748442 Unspecified ARL3 +OMIM:604695 skos:exactMatch HGNC:694 Unspecified ARL3 +OMIM:604695 skos:exactMatch UMLS:C4748536 Unspecified ARL3 +OMIM:602032 skos:exactMatch UMLS:C1865951 Unspecified ectodermal dysplasia 4, hair/nail iia +OMIM:300490 skos:exactMatch HGNC_symbol:SH2D1A Unspecified SH2D1A +OMIM:300490 skos:exactMatch UMLS:C1420017 Unspecified SH2D1A +OMIM:300490 skos:exactMatch HGNC:10820 Unspecified SH2D1A +OMIM:192000 skos:exactMatch UMLS:C0266383 Unspecified uterine anomalies +OMIM:179000 skos:exactMatch UMLS:C0272309 Unspecified purpura simplex +OMIM:602033 skos:exactMatch HGNC_symbol:EML1 Unspecified EML1 +OMIM:602033 skos:exactMatch UMLS:C1414385 Unspecified EML1 +OMIM:602033 skos:exactMatch HGNC:3330 Unspecified EML1 +OMIM:604694 skos:exactMatch UMLS:C1412312 Unspecified AKAP10 +OMIM:604694 skos:exactMatch HGNC_symbol:AKAP10 Unspecified AKAP10 +OMIM:604694 skos:exactMatch HGNC:368 Unspecified AKAP10 +OMIM:602034 skos:exactMatch UMLS:C1413710 Unspecified CRHR2 +OMIM:602034 skos:exactMatch HGNC_symbol:CRHR2 Unspecified CRHR2 +OMIM:602034 skos:exactMatch HGNC:2358 Unspecified CRHR2 +OMIM:604697 skos:exactMatch UMLS:C1364113 Unspecified CCL26 +OMIM:604697 skos:exactMatch HGNC_symbol:CCL26 Unspecified CCL26 +OMIM:604697 skos:exactMatch HGNC:10625 Unspecified CCL26 +OMIM:300492 skos:exactMatch HGNC:13749 Unspecified FAM3A +OMIM:300492 skos:exactMatch UMLS:C1422181 Unspecified FAM3A +OMIM:300492 skos:exactMatch HGNC_symbol:FAM3A Unspecified FAM3A +OMIM:300491 skos:exactMatch UMLS:C1845343 Unspecified epilepsy, x-linked, with variable learning disabilities and behavior disorders +OMIM:604696 skos:exactMatch UMLS:C1412313 Unspecified AKAP11 +OMIM:604696 skos:exactMatch HGNC_symbol:AKAP11 Unspecified AKAP11 +OMIM:604696 skos:exactMatch HGNC:369 Unspecified AKAP11 +OMIM:602035 skos:exactMatch HGNC_symbol:PPP4C Unspecified PPP4C +OMIM:602035 skos:exactMatch HGNC:9319 Unspecified PPP4C +OMIM:602035 skos:exactMatch UMLS:C1418850 Unspecified PPP4C +OMIM:155050 skos:exactMatch UMLS:C0220692 Unspecified maxillonasal dysplasia, binder iia +OMIM:602014 skos:exactMatch UMLS:C1865974 Unspecified hypomagnesemia 1, intestinal +OMIM:604677 skos:exactMatch HGNC:2205 Unspecified CERT1 +OMIM:604677 skos:exactMatch UMLS:C1413584 Unspecified CERT1 +OMIM:604677 skos:exactMatch HGNC_symbol:CERT1 Unspecified CERT1 +OMIM:300450 skos:exactMatch HGNC_symbol:FATE1 Unspecified FATE1 +OMIM:300450 skos:exactMatch UMLS:C1539479 Unspecified FATE1 +OMIM:300450 skos:exactMatch HGNC:24683 Unspecified FATE1 +OMIM:604676 skos:exactMatch HGNC:21659 Unspecified HCP5 +OMIM:604676 skos:exactMatch UMLS:C1427680 Unspecified HCP5 +OMIM:604676 skos:exactMatch HGNC_symbol:HCP5 Unspecified HCP5 +OMIM:602015 skos:exactMatch UMLS:C1417936 Unspecified ODF2 +OMIM:602015 skos:exactMatch HGNC:8114 Unspecified ODF2 +OMIM:602015 skos:exactMatch HGNC_symbol:ODF2 Unspecified ODF2 +OMIM:604679 skos:exactMatch HGNC:8554 Unspecified PABPC1 +OMIM:604679 skos:exactMatch UMLS:C1442738 Unspecified PABPC1 +OMIM:604679 skos:exactMatch HGNC_symbol:PABPC1 Unspecified PABPC1 +OMIM:602016 skos:exactMatch UMLS:C1416659 Unspecified KLF2 +OMIM:602016 skos:exactMatch HGNC_symbol:KLF2 Unspecified KLF2 +OMIM:602016 skos:exactMatch HGNC:6347 Unspecified KLF2 +OMIM:300452 skos:exactMatch UMLS:C1537408 Unspecified INGX +OMIM:300452 skos:exactMatch HGNC:6064 Unspecified INGX +OMIM:300452 skos:exactMatch HGNC_symbol:INGX Unspecified INGX +OMIM:300451 skos:exactMatch HGNC:3157 Unspecified EDA +OMIM:300451 skos:exactMatch HGNC_symbol:EDA Unspecified EDA +OMIM:300451 skos:exactMatch UMLS:C1539327 Unspecified EDA +OMIM:604678 skos:exactMatch HGNC_symbol:TM9SF2 Unspecified TM9SF2 +OMIM:604678 skos:exactMatch HGNC:11865 Unspecified TM9SF2 +OMIM:604678 skos:exactMatch UMLS:C1420773 Unspecified TM9SF2 +OMIM:602017 skos:exactMatch HGNC_symbol:PSMB1 Unspecified PSMB1 +OMIM:602017 skos:exactMatch HGNC:9537 Unspecified PSMB1 +OMIM:602017 skos:exactMatch UMLS:C1419010 Unspecified PSMB1 +OMIM:300454 skos:exactMatch UMLS:C1845499 Unspecified intellectual developmental disorder, X-linked 77 +OMIM:602018 skos:exactMatch HGNC:8007 Unspecified NRTN +OMIM:602018 skos:exactMatch HGNC_symbol:NRTN Unspecified NRTN +OMIM:602018 skos:exactMatch UMLS:C1334906 Unspecified NRTN +OMIM:602019 skos:exactMatch HGNC:11279 Unspecified SQLE +OMIM:602019 skos:exactMatch UMLS:C1420392 Unspecified SQLE +OMIM:602019 skos:exactMatch HGNC_symbol:SQLE Unspecified SQLE +OMIM:300453 skos:exactMatch HGNC:18786 Unspecified FAM50A +OMIM:300453 skos:exactMatch UMLS:C1846057 Unspecified FAM50A +OMIM:300453 skos:exactMatch HGNC_symbol:FAM50A Unspecified FAM50A +OMIM:300453 skos:exactMatch UMLS:C1539454 Unspecified FAM50A +OMIM:300456 skos:exactMatch HGNC_symbol:CCNB3 Unspecified CCNB3 +OMIM:300456 skos:exactMatch HGNC:18709 Unspecified CCNB3 +OMIM:300456 skos:exactMatch UMLS:C1425728 Unspecified CCNB3 +OMIM:300456 skos:exactMatch UMLS:C3550813 Unspecified CCNB3 +OMIM:300455 skos:exactMatch UMLS:C2749137 Unspecified retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness +OMIM:300457 skos:exactMatch UMLS:C1417725 Unspecified NHS +OMIM:300457 skos:exactMatch UMLS:C4049004 Unspecified NHS +OMIM:300457 skos:exactMatch UMLS:C0796085 Unspecified NHS +OMIM:300457 skos:exactMatch HGNC_symbol:NHS Unspecified NHS +OMIM:300457 skos:exactMatch HGNC:7820 Unspecified NHS +OMIM:616660 skos:exactMatch HGNC:28709 Unspecified None +OMIM:616660 skos:exactMatch HGNC_symbol:TMEM175 Unspecified None +OMIM:616660 skos:exactMatch UMLS:C4225665 Unspecified None +OMIM:265400 skos:exactMatch UMLS:C1849552 Unspecified pulmonary hypertension, primary, autosomal recessive +OMIM:616661 skos:exactMatch HGNC_symbol:MORC2 Unspecified MORC2 +OMIM:616661 skos:exactMatch UMLS:C1826266 Unspecified MORC2 +OMIM:616661 skos:exactMatch HGNC:23573 Unspecified MORC2 +OMIM:300459 skos:exactMatch UMLS:C1540034 Unspecified TNMD +OMIM:300459 skos:exactMatch HGNC:17757 Unspecified TNMD +OMIM:300459 skos:exactMatch HGNC_symbol:TNMD Unspecified TNMD +OMIM:167055 skos:exactMatch HGNC_symbol:OXTR Unspecified OXTR +OMIM:167055 skos:exactMatch HGNC:8529 Unspecified OXTR +OMIM:167055 skos:exactMatch UMLS:C1418209 Unspecified OXTR +OMIM:616662 skos:exactMatch HGNC_symbol:THUMPD1 Unspecified THUMPD1 +OMIM:616662 skos:exactMatch UMLS:C1539961 Unspecified THUMPD1 +OMIM:616662 skos:exactMatch HGNC:23807 Unspecified THUMPD1 +OMIM:616663 skos:exactMatch UMLS:C3281200 Unspecified SNORD118 +OMIM:616663 skos:exactMatch UMLS:C1823074 Unspecified SNORD118 +OMIM:616663 skos:exactMatch HGNC:32952 Unspecified SNORD118 +OMIM:616663 skos:exactMatch HGNC_symbol:SNORD118 Unspecified SNORD118 +OMIM:616664 skos:exactMatch HGNC:32711 Unspecified SNORD13 +OMIM:616664 skos:exactMatch UMLS:C1822917 Unspecified SNORD13 +OMIM:616664 skos:exactMatch HGNC_symbol:SNORD13 Unspecified SNORD13 +OMIM:616665 skos:exactMatch HGNC_symbol:SYPL1 Unspecified SYPL1 +OMIM:616665 skos:exactMatch UMLS:C1823163 Unspecified SYPL1 +OMIM:616665 skos:exactMatch HGNC:11507 Unspecified SYPL1 +OMIM:614003 skos:exactMatch HGNC_symbol:NBPF14 Unspecified NBPF14 +OMIM:614003 skos:exactMatch HGNC:25232 Unspecified NBPF14 +OMIM:614003 skos:exactMatch UMLS:C1826372 Unspecified NBPF14 +OMIM:616655 skos:exactMatch HGNC:23801 Unspecified SIPA1L3 +OMIM:616655 skos:exactMatch UMLS:C1428269 Unspecified SIPA1L3 +OMIM:616655 skos:exactMatch HGNC_symbol:SIPA1L3 Unspecified SIPA1L3 +OMIM:616656 skos:exactMatch UMLS:C1428547 Unspecified COMMD8 +OMIM:616656 skos:exactMatch HGNC_symbol:COMMD8 Unspecified COMMD8 +OMIM:616656 skos:exactMatch HGNC:26036 Unspecified COMMD8 +OMIM:616657 skos:exactMatch UMLS:C4225254 Unspecified spastic tetraplegia, thin corpus callosum, and progressive microcephaly +OMIM:616657 skos:exactMatch ORPHA:447997 Unspecified spastic tetraplegia, thin corpus callosum, and progressive microcephaly +OMIM:614001 skos:exactMatch HGNC_symbol:NBPF11 Unspecified NBPF11 +OMIM:614001 skos:exactMatch HGNC:31993 Unspecified NBPF11 +OMIM:614001 skos:exactMatch UMLS:C1826369 Unspecified NBPF11 +OMIM:614000 skos:exactMatch HGNC_symbol:NBPF10 Unspecified NBPF10 +OMIM:614000 skos:exactMatch HGNC:31992 Unspecified NBPF10 +OMIM:614000 skos:exactMatch UMLS:C1826368 Unspecified NBPF10 +OMIM:616658 skos:exactMatch HGNC:33702 Unspecified MICOS13 +OMIM:616658 skos:exactMatch UMLS:C2681313 Unspecified MICOS13 +OMIM:616658 skos:exactMatch HGNC_symbol:MICOS13 Unspecified MICOS13 +OMIM:616659 skos:exactMatch UMLS:C1428512 Unspecified TBC1D17 +OMIM:616659 skos:exactMatch HGNC_symbol:TBC1D17 Unspecified TBC1D17 +OMIM:616659 skos:exactMatch HGNC:25699 Unspecified TBC1D17 +OMIM:194630 skos:exactMatch HGNC:12906 Unspecified zinc finger protein 123, pseudogene +OMIM:194630 skos:exactMatch UMLS:C1421614 Unspecified zinc finger protein 123, pseudogene +OMIM:194630 skos:exactMatch HGNC_symbol:ZNF123P Unspecified zinc finger protein 123, pseudogene +OMIM:194631 skos:exactMatch HGNC:12907 Unspecified ZNF124 +OMIM:194631 skos:exactMatch HGNC_symbol:ZNF124 Unspecified ZNF124 +OMIM:194631 skos:exactMatch UMLS:C1421615 Unspecified ZNF124 +OMIM:194632 skos:exactMatch UMLS:C1421616 Unspecified ZNF125 +OMIM:143089 skos:exactMatch HGNC_symbol:FOXN2 Unspecified HTLF +OMIM:143089 skos:exactMatch HGNC:5281 Unspecified HTLF +OMIM:143089 skos:exactMatch UMLS:C1825310 Unspecified HTLF +OMIM:194633 skos:exactMatch UMLS:C1421617 Unspecified ZNF126 +OMIM:604680 skos:exactMatch HGNC:8556 Unspecified PABPC3 +OMIM:604680 skos:exactMatch HGNC_symbol:PABPC3 Unspecified PABPC3 +OMIM:604680 skos:exactMatch UMLS:C1418229 Unspecified PABPC3 +OMIM:179035 skos:exactMatch HGNC:9721 Unspecified PYCR1 +OMIM:179035 skos:exactMatch UMLS:C1419152 Unspecified PYCR1 +OMIM:179035 skos:exactMatch HGNC_symbol:PYCR1 Unspecified PYCR1 +OMIM:604682 skos:exactMatch HGNC_symbol:ITGAE Unspecified ITGAE +OMIM:604682 skos:exactMatch HGNC:6147 Unspecified ITGAE +OMIM:604682 skos:exactMatch UMLS:C1416493 Unspecified ITGAE +OMIM:602020 skos:exactMatch HGNC:6781 Unspecified MAFG +OMIM:602020 skos:exactMatch HGNC_symbol:MAFG Unspecified MAFG +OMIM:602020 skos:exactMatch UMLS:C0812300 Unspecified MAFG +OMIM:602021 skos:exactMatch UMLS:C5394158 Unspecified PPP1R12A +OMIM:602021 skos:exactMatch HGNC:7618 Unspecified PPP1R12A +OMIM:602021 skos:exactMatch HGNC_symbol:PPP1R12A Unspecified PPP1R12A +OMIM:602021 skos:exactMatch UMLS:C1417581 Unspecified PPP1R12A +OMIM:604684 skos:exactMatch HGNC:16997 Unspecified MLLT11 +OMIM:604684 skos:exactMatch HGNC_symbol:MLLT11 Unspecified MLLT11 +OMIM:604684 skos:exactMatch UMLS:C1826257 Unspecified MLLT11 +OMIM:602022 skos:exactMatch UMLS:C1416990 Unspecified MALL +OMIM:602022 skos:exactMatch HGNC:6818 Unspecified MALL +OMIM:602022 skos:exactMatch HGNC_symbol:MALL Unspecified MALL +OMIM:604683 skos:exactMatch HGNC_symbol:KIF3A Unspecified KIF3A +OMIM:604683 skos:exactMatch HGNC:6319 Unspecified KIF3A +OMIM:604683 skos:exactMatch UMLS:C1416634 Unspecified KIF3A +OMIM:604686 skos:exactMatch HGNC:371 Unspecified AKAP13 +OMIM:604686 skos:exactMatch UMLS:C1332071 Unspecified AKAP13 +OMIM:604686 skos:exactMatch HGNC_symbol:AKAP13 Unspecified AKAP13 +OMIM:602023 skos:exactMatch UMLS:C1413458 Unspecified CLCNKB +OMIM:602023 skos:exactMatch HGNC_symbol:CLCNKB Unspecified CLCNKB +OMIM:602023 skos:exactMatch HGNC:2027 Unspecified CLCNKB +OMIM:604685 skos:exactMatch HGNC_symbol:HOXA2 Unspecified HOXA2 +OMIM:604685 skos:exactMatch UMLS:C1415656 Unspecified HOXA2 +OMIM:604685 skos:exactMatch HGNC:5103 Unspecified HOXA2 +OMIM:602024 skos:exactMatch HGNC:2026 Unspecified CLCNKA +OMIM:602024 skos:exactMatch UMLS:C1413457 Unspecified CLCNKA +OMIM:602024 skos:exactMatch HGNC_symbol:CLCNKA Unspecified CLCNKA +OMIM:300461 skos:exactMatch HGNC:8512 Unspecified OTC +OMIM:300461 skos:exactMatch HGNC_symbol:OTC Unspecified OTC +OMIM:300461 skos:exactMatch UMLS:C1418193 Unspecified OTC +OMIM:602003 skos:exactMatch UMLS:C1416910 Unspecified LRMP +OMIM:602003 skos:exactMatch HGNC_symbol:IRAG2 Unspecified LRMP +OMIM:602003 skos:exactMatch HGNC:6690 Unspecified LRMP +OMIM:604666 skos:exactMatch HGNC_symbol:MAP4K4 Unspecified MAP4K4 +OMIM:604666 skos:exactMatch UMLS:C1367671 Unspecified MAP4K4 +OMIM:604666 skos:exactMatch HGNC:6866 Unspecified MAP4K4 +OMIM:300460 skos:exactMatch UMLS:C1848137 Unspecified PCDH19 +OMIM:300460 skos:exactMatch HGNC:14270 Unspecified PCDH19 +OMIM:300460 skos:exactMatch HGNC_symbol:PCDH19 Unspecified PCDH19 +OMIM:300460 skos:exactMatch UMLS:C1422530 Unspecified PCDH19 +OMIM:602004 skos:exactMatch HGNC_symbol:PTK6 Unspecified PTK6 +OMIM:602004 skos:exactMatch UMLS:C1335274 Unspecified PTK6 +OMIM:602004 skos:exactMatch HGNC:9617 Unspecified PTK6 +OMIM:179030 skos:exactMatch UMLS:C1826646 Unspecified PPA1 +OMIM:179030 skos:exactMatch HGNC_symbol:PPA1 Unspecified PPA1 +OMIM:179030 skos:exactMatch HGNC:9226 Unspecified PPA1 +OMIM:604665 skos:exactMatch HGNC:2239 Unspecified COPS3 +OMIM:604665 skos:exactMatch UMLS:C1413613 Unspecified COPS3 +OMIM:604665 skos:exactMatch HGNC_symbol:COPS3 Unspecified COPS3 +OMIM:300463 skos:exactMatch UMLS:C1418859 Unspecified PQBP1 +OMIM:300463 skos:exactMatch HGNC:9330 Unspecified PQBP1 +OMIM:300463 skos:exactMatch HGNC_symbol:PQBP1 Unspecified PQBP1 +OMIM:602005 skos:exactMatch HGNC:11185 Unspecified SORL1 +OMIM:602005 skos:exactMatch UMLS:C1420312 Unspecified SORL1 +OMIM:602005 skos:exactMatch HGNC_symbol:SORL1 Unspecified SORL1 +OMIM:604668 skos:exactMatch UMLS:C1421751 Unspecified ZNF264 +OMIM:604668 skos:exactMatch HGNC_symbol:ZNF264 Unspecified ZNF264 +OMIM:604668 skos:exactMatch HGNC:13057 Unspecified ZNF264 +OMIM:604667 skos:exactMatch HGNC:1426 Unspecified CADPS +OMIM:604667 skos:exactMatch UMLS:C1413079 Unspecified CADPS +OMIM:604667 skos:exactMatch HGNC_symbol:CADPS Unspecified CADPS +OMIM:602006 skos:exactMatch HGNC:6887 Unspecified MAPKAPK2 +OMIM:602006 skos:exactMatch HGNC_symbol:MAPKAPK2 Unspecified MAPKAPK2 +OMIM:602006 skos:exactMatch UMLS:C1442514 Unspecified MAPKAPK2 +OMIM:300462 skos:exactMatch UMLS:C1540196 Unspecified AKAP14 +OMIM:300462 skos:exactMatch HGNC:24061 Unspecified AKAP14 +OMIM:300462 skos:exactMatch HGNC_symbol:AKAP14 Unspecified AKAP14 +OMIM:602007 skos:exactMatch UMLS:C0812253 Unspecified CRKL +OMIM:602007 skos:exactMatch HGNC:2363 Unspecified CRKL +OMIM:602007 skos:exactMatch HGNC_symbol:CRKL Unspecified CRKL +OMIM:180000 skos:exactMatch UMLS:C1867327 Unspecified retinal arteries, tortuosity of +OMIM:300464 skos:exactMatch UMLS:C1845454 Unspecified coronary heart disease, susceptibility to, 3 +OMIM:602008 skos:exactMatch HGNC:6402 Unspecified IPO5 +OMIM:602008 skos:exactMatch HGNC_symbol:IPO5 Unspecified IPO5 +OMIM:602008 skos:exactMatch UMLS:C1538782 Unspecified IPO5 +OMIM:604669 skos:exactMatch UMLS:C1418602 Unspecified PKD2L2 +OMIM:604669 skos:exactMatch HGNC:9012 Unspecified PKD2L2 +OMIM:604669 skos:exactMatch HGNC_symbol:PKD2L2 Unspecified PKD2L2 +OMIM:602009 skos:exactMatch UMLS:C5436720 Unspecified COX6A2 +OMIM:602009 skos:exactMatch HGNC:2279 Unspecified COX6A2 +OMIM:602009 skos:exactMatch HGNC_symbol:COX6A2 Unspecified COX6A2 +OMIM:602009 skos:exactMatch UMLS:C1413648 Unspecified COX6A2 +OMIM:300467 skos:exactMatch HGNC:23796 Unspecified MAGEB6 +OMIM:300467 skos:exactMatch UMLS:C1428264 Unspecified MAGEB6 +OMIM:300467 skos:exactMatch HGNC_symbol:MAGEB6 Unspecified MAGEB6 +OMIM:300466 skos:exactMatch HGNC:23795 Unspecified MAGEB5 +OMIM:300466 skos:exactMatch UMLS:C1428263 Unspecified MAGEB5 +OMIM:300466 skos:exactMatch HGNC_symbol:MAGEB5 Unspecified MAGEB5 +OMIM:300469 skos:exactMatch HGNC:23798 Unspecified MAGEC3 +OMIM:300469 skos:exactMatch UMLS:C1428266 Unspecified MAGEC3 +OMIM:300469 skos:exactMatch HGNC_symbol:MAGEC3 Unspecified MAGEC3 +OMIM:300468 skos:exactMatch HGNC_symbol:MAGEC2 Unspecified MAGEC2 +OMIM:300468 skos:exactMatch HGNC:13574 Unspecified MAGEC2 +OMIM:300468 skos:exactMatch UMLS:C1422072 Unspecified MAGEC2 +OMIM:194648 skos:exactMatch HGNC:12926 Unspecified ZNF141 +OMIM:194648 skos:exactMatch HGNC_symbol:ZNF141 Unspecified ZNF141 +OMIM:194648 skos:exactMatch UMLS:C1421633 Unspecified ZNF141 +OMIM:616650 skos:exactMatch HGNC:29068 Unspecified KATNIP +OMIM:616650 skos:exactMatch UMLS:C1825666 Unspecified KATNIP +OMIM:616650 skos:exactMatch UMLS:C4084843 Unspecified KATNIP +OMIM:616650 skos:exactMatch HGNC_symbol:KATNIP Unspecified KATNIP +OMIM:616651 skos:exactMatch UMLS:C1846059 Unspecified roifman syndrome +OMIM:616652 skos:exactMatch UMLS:C4225255 Unspecified yuan-harel-lupski syndrome +OMIM:616653 skos:exactMatch HGNC:21222 Unspecified PNISR +OMIM:616653 skos:exactMatch HGNC_symbol:PNISR Unspecified PNISR +OMIM:616653 skos:exactMatch UMLS:C3471412 Unspecified PNISR +OMIM:616654 skos:exactMatch UMLS:C4084841 Unspecified joubert syndrome 24 +OMIM:143095 skos:exactMatch UMLS:C1837657 Unspecified spondyloepiphyseal dysplasia with congenital joint dislocations +OMIM:616644 skos:exactMatch HGNC_symbol:CUZD1 Unspecified CUZD1 +OMIM:616644 skos:exactMatch HGNC:17937 Unspecified CUZD1 +OMIM:616644 skos:exactMatch UMLS:C1425190 Unspecified CUZD1 +OMIM:167050 skos:exactMatch HGNC_symbol:OXT Unspecified OXT +OMIM:167050 skos:exactMatch UMLS:C1418208 Unspecified OXT +OMIM:167050 skos:exactMatch HGNC:8528 Unspecified OXT +OMIM:616645 skos:exactMatch UMLS:C4225257 Unspecified developmental and epileptic encephalopathy 34 +OMIM:616645 skos:exactMatch ORPHA:293181 Unspecified developmental and epileptic encephalopathy 34 +OMIM:616646 skos:exactMatch UMLS:C1825743 Unspecified KRT25 +OMIM:616646 skos:exactMatch HGNC_symbol:KRT25 Unspecified KRT25 +OMIM:616646 skos:exactMatch HGNC:30839 Unspecified KRT25 +OMIM:616647 skos:exactMatch UMLS:C4225256 Unspecified developmental and epileptic encephalopathy 35 +OMIM:616647 skos:exactMatch ORPHA:457375 Unspecified developmental and epileptic encephalopathy 35 +OMIM:616648 skos:exactMatch UMLS:C4085249 Unspecified optic atrophy 8 +OMIM:616649 skos:exactMatch UMLS:C2674219 Unspecified spherocytosis, iia 2 +OMIM:604671 skos:exactMatch HGNC_symbol:JTB Unspecified JTB +OMIM:604671 skos:exactMatch UMLS:C1334294 Unspecified JTB +OMIM:604671 skos:exactMatch HGNC:6201 Unspecified JTB +OMIM:604670 skos:exactMatch HGNC:9015 Unspecified PKDREJ +OMIM:604670 skos:exactMatch HGNC_symbol:PKDREJ Unspecified PKDREJ +OMIM:604670 skos:exactMatch UMLS:C1418604 Unspecified PKDREJ +OMIM:602010 skos:exactMatch HGNC:10782 Unspecified SRSF11 +OMIM:602010 skos:exactMatch HGNC_symbol:SRSF11 Unspecified SRSF11 +OMIM:602010 skos:exactMatch UMLS:C1419991 Unspecified SRSF11 +OMIM:604673 skos:exactMatch HGNC_symbol:IRAG1 Unspecified MRVI1 +OMIM:604673 skos:exactMatch HGNC:7237 Unspecified MRVI1 +OMIM:604673 skos:exactMatch UMLS:C1334530 Unspecified MRVI1 +OMIM:604672 skos:exactMatch HGNC:1641 Unspecified CD209 +OMIM:604672 skos:exactMatch UMLS:C1332707 Unspecified CD209 +OMIM:604672 skos:exactMatch HGNC_symbol:CD209 Unspecified CD209 +OMIM:602011 skos:exactMatch UMLS:C1420440 Unspecified suppressor of tumorigenicity 11 +OMIM:179020 skos:exactMatch HGNC:8819 Unspecified PDXK +OMIM:179020 skos:exactMatch HGNC_symbol:PDXK Unspecified PDXK +OMIM:179020 skos:exactMatch UMLS:C1418446 Unspecified PDXK +OMIM:602012 skos:exactMatch HGNC:3364 Unspecified ENTPD2 +OMIM:602012 skos:exactMatch HGNC_symbol:ENTPD2 Unspecified ENTPD2 +OMIM:602012 skos:exactMatch UMLS:C1414413 Unspecified ENTPD2 +OMIM:300470 skos:exactMatch HGNC:16353 Unspecified MAGED2 +OMIM:300470 skos:exactMatch HGNC_symbol:MAGED2 Unspecified MAGED2 +OMIM:300470 skos:exactMatch UMLS:C1424211 Unspecified MAGED2 +OMIM:604675 skos:exactMatch HGNC_symbol:PRRX2 Unspecified PRRX2 +OMIM:604675 skos:exactMatch HGNC:21338 Unspecified PRRX2 +OMIM:604675 skos:exactMatch UMLS:C1427492 Unspecified PRRX2 +OMIM:602013 skos:exactMatch UMLS:C1418745 Unspecified POLR2G +OMIM:602013 skos:exactMatch HGNC:9194 Unspecified POLR2G +OMIM:602013 skos:exactMatch HGNC_symbol:POLR2G Unspecified POLR2G +OMIM:604674 skos:exactMatch HGNC:4881 Unspecified HEY2 +OMIM:604674 skos:exactMatch UMLS:C1415525 Unspecified HEY2 +OMIM:604674 skos:exactMatch HGNC_symbol:HEY2 Unspecified HEY2 +OMIM:192150 skos:exactMatch HGNC_symbol:VARS1 Unspecified VARS1 +OMIM:192150 skos:exactMatch UMLS:C1823613 Unspecified VARS1 +OMIM:192150 skos:exactMatch HGNC:12651 Unspecified VARS1 +OMIM:614189 skos:exactMatch HGNC:31668 Unspecified GOLGA7B +OMIM:614189 skos:exactMatch UMLS:C1539013 Unspecified GOLGA7B +OMIM:614189 skos:exactMatch HGNC_symbol:GOLGA7B Unspecified GOLGA7B +OMIM:614188 skos:exactMatch UMLS:C3280073 Unspecified craniosynostosis and dental anomalies +OMIM:614187 skos:exactMatch UMLS:C3280065 Unspecified hypertelorism, preauricular sinus, punctal pits, and deafness +OMIM:614186 skos:exactMatch UMLS:C3280062 Unspecified leber congenital amaurosis 16 +OMIM:614185 skos:exactMatch UMLS:C3280054 Unspecified geleophysic dysplasia 2 +OMIM:614184 skos:exactMatch UMLS:C2239353 Unspecified DIS3L2 +OMIM:614184 skos:exactMatch HGNC:28648 Unspecified DIS3L2 +OMIM:614184 skos:exactMatch HGNC_symbol:DIS3L2 Unspecified DIS3L2 +OMIM:614183 skos:exactMatch UMLS:C1824941 Unspecified DIS3L +OMIM:614183 skos:exactMatch HGNC:28698 Unspecified DIS3L +OMIM:614183 skos:exactMatch HGNC_symbol:DIS3L Unspecified DIS3L +OMIM:614182 skos:exactMatch HGNC_symbol:HEG1 Unspecified HEG1 +OMIM:614182 skos:exactMatch UMLS:C1539661 Unspecified HEG1 +OMIM:614182 skos:exactMatch HGNC:29227 Unspecified HEG1 +OMIM:614181 skos:exactMatch UMLS:C3280042 Unspecified retinitis pigmentosa 62 +OMIM:614180 skos:exactMatch UMLS:C3280041 Unspecified retinitis pigmentosa 61 +OMIM:277600 skos:exactMatch UMLS:C4552002 Unspecified weill-marchesani syndrome 1 +OMIM:302900 skos:exactMatch UMLS:C1844863 Unspecified charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined +OMIM:302905 skos:exactMatch UMLS:C1844862 Unspecified abruzzo-erickson syndrome +OMIM:614169 skos:exactMatch HGNC_symbol:NBEAL2 Unspecified NBEAL2 +OMIM:614169 skos:exactMatch HGNC:31928 Unspecified NBEAL2 +OMIM:614169 skos:exactMatch UMLS:C1538045 Unspecified NBEAL2 +OMIM:614179 skos:exactMatch HGNC_symbol:ISLR2 Unspecified ISLR2 +OMIM:614179 skos:exactMatch UMLS:C1825624 Unspecified ISLR2 +OMIM:614179 skos:exactMatch HGNC:29286 Unspecified ISLR2 +OMIM:614178 skos:exactMatch HGNC:28657 Unspecified CRACR2A +OMIM:614178 skos:exactMatch UMLS:C1825034 Unspecified CRACR2A +OMIM:614178 skos:exactMatch HGNC_symbol:CRACR2A Unspecified CRACR2A +OMIM:614177 skos:exactMatch HGNC:28703 Unspecified EFCAB4A +OMIM:614177 skos:exactMatch UMLS:C1825033 Unspecified EFCAB4A +OMIM:614177 skos:exactMatch HGNC_symbol:CRACR2B Unspecified EFCAB4A +OMIM:614176 skos:exactMatch HGNC_symbol:ZFYVE28 Unspecified ZFYVE28 +OMIM:614176 skos:exactMatch HGNC:29334 Unspecified ZFYVE28 +OMIM:614176 skos:exactMatch UMLS:C1428840 Unspecified ZFYVE28 +OMIM:614175 skos:exactMatch UMLS:C4539386 Unspecified meckel syndrome, iia 10 +OMIM:614175 skos:exactMatch UMLS:C3280036 Unspecified meckel syndrome, iia 10 +OMIM:602190 skos:exactMatch HGNC_symbol:EPHA7 Unspecified EPHA7 +OMIM:602190 skos:exactMatch HGNC:3390 Unspecified EPHA7 +OMIM:602190 skos:exactMatch UMLS:C1414430 Unspecified EPHA7 +OMIM:614174 skos:exactMatch HGNC_symbol:MEIG1 Unspecified MEIG1 +OMIM:614174 skos:exactMatch HGNC:23429 Unspecified MEIG1 +OMIM:614174 skos:exactMatch UMLS:C1537684 Unspecified MEIG1 +OMIM:614173 skos:exactMatch UMLS:C3280031 Unspecified joubert syndrome 13 +OMIM:602191 skos:exactMatch HGNC:3318 Unspecified ELF3 +OMIM:602191 skos:exactMatch HGNC_symbol:ELF3 Unspecified ELF3 +OMIM:602191 skos:exactMatch UMLS:C1366763 Unspecified ELF3 +OMIM:602192 skos:exactMatch HGNC_symbol:ADAM10 Unspecified ADAM10 +OMIM:602192 skos:exactMatch UMLS:C4016772 Unspecified ADAM10 +OMIM:602192 skos:exactMatch UMLS:C0406811 Unspecified ADAM10 +OMIM:602192 skos:exactMatch HGNC:188 Unspecified ADAM10 +OMIM:602192 skos:exactMatch UMLS:C1412181 Unspecified ADAM10 +OMIM:614172 skos:exactMatch UMLS:C3280030 Unspecified immunodeficiency 21 +OMIM:602193 skos:exactMatch HGNC:11003 Unspecified SLC29A1 +OMIM:602193 skos:exactMatch HGNC_symbol:SLC29A1 Unspecified SLC29A1 +OMIM:602193 skos:exactMatch UMLS:C1420171 Unspecified SLC29A1 +OMIM:614171 skos:exactMatch UMLS:C3280026 Unspecified hermansky-pudlak syndrome 9 +OMIM:602194 skos:exactMatch UMLS:C1825552 Unspecified HTRA1 +OMIM:602194 skos:exactMatch HGNC:9476 Unspecified HTRA1 +OMIM:602194 skos:exactMatch HGNC_symbol:HTRA1 Unspecified HTRA1 +OMIM:614170 skos:exactMatch UMLS:C3280011 Unspecified brittle cornea syndrome 2 +OMIM:602195 skos:exactMatch HGNC:5246 Unspecified HSPB1 +OMIM:602195 skos:exactMatch UMLS:C1333928 Unspecified HSPB1 +OMIM:602195 skos:exactMatch HGNC_symbol:HSPB1 Unspecified HSPB1 +OMIM:602196 skos:exactMatch UMLS:C1865783 Unspecified pierre robin sequence with pectus excavatum and rib and scapular anomalies +OMIM:602197 skos:exactMatch UMLS:C1865782 Unspecified cerebellar degeneration-related autoantigen 3 +OMIM:602198 skos:exactMatch UMLS:C1332732 Unspecified CDK2AP1 +OMIM:602198 skos:exactMatch HGNC_symbol:CDK2AP1 Unspecified CDK2AP1 +OMIM:602198 skos:exactMatch HGNC:14002 Unspecified CDK2AP1 +OMIM:602199 skos:exactMatch UMLS:C1865781 Unspecified medium chain 3-ketoacyl-coa thiolase deficiency +OMIM:602179 skos:exactMatch UMLS:C1415768 Unspecified HSPB2 +OMIM:602179 skos:exactMatch HGNC_symbol:HSPB2 Unspecified HSPB2 +OMIM:602179 skos:exactMatch HGNC:5247 Unspecified HSPB2 +OMIM:265600 skos:exactMatch UMLS:C0403552 Unspecified pulmonic stenosis and congenital nephrosis +OMIM:614159 skos:exactMatch HGNC_symbol:ZNF644 Unspecified ZNF644 +OMIM:614159 skos:exactMatch HGNC:29222 Unspecified ZNF644 +OMIM:614159 skos:exactMatch UMLS:C1538214 Unspecified ZNF644 +OMIM:614158 skos:exactMatch UMLS:C0398635 Unspecified bleeding disorder, platelet-type, 14 +OMIM:614168 skos:exactMatch UMLS:C0268194 Unspecified PCK1 +OMIM:614168 skos:exactMatch HGNC:8724 Unspecified PCK1 +OMIM:614168 skos:exactMatch HGNC_symbol:PCK1 Unspecified PCK1 +OMIM:614168 skos:exactMatch UMLS:C1418371 Unspecified PCK1 +OMIM:614167 skos:exactMatch UMLS:C3279997 Unspecified myopia 21, autosomal dominant +OMIM:614166 skos:exactMatch UMLS:C3279996 Unspecified myopia 20, autosomal dominant +OMIM:614165 skos:exactMatch UMLS:C3279992 Unspecified paragangliomas 5 +OMIM:614164 skos:exactMatch UMLS:C0398747 Unspecified glutathione peroxidase deficiency +OMIM:614163 skos:exactMatch UMLS:C3279991 Unspecified delayed sleep phase disorder, susceptibility to +OMIM:614162 skos:exactMatch ORPHA:391487 Unspecified immunodeficiency 31c +OMIM:614162 skos:exactMatch UMLS:C3279990 Unspecified immunodeficiency 31c +OMIM:602180 skos:exactMatch HGNC_symbol:SIPA1 Unspecified SIPA1 +OMIM:602180 skos:exactMatch UMLS:C1420070 Unspecified SIPA1 +OMIM:602180 skos:exactMatch HGNC:10885 Unspecified SIPA1 +OMIM:602181 skos:exactMatch HGNC:30646 Unspecified SND1 +OMIM:602181 skos:exactMatch HGNC_symbol:SND1 Unspecified SND1 +OMIM:602181 skos:exactMatch UMLS:C1822796 Unspecified SND1 +OMIM:614161 skos:exactMatch HGNC_symbol:PRDM5 Unspecified PRDM5 +OMIM:614161 skos:exactMatch UMLS:C1418876 Unspecified PRDM5 +OMIM:614161 skos:exactMatch HGNC:9349 Unspecified PRDM5 +OMIM:614160 skos:exactMatch UMLS:C0236033 Unspecified muscle hypertrophy +OMIM:602182 skos:exactMatch HGNC:3358 Unspecified ENPP3 +OMIM:602182 skos:exactMatch HGNC_symbol:ENPP3 Unspecified ENPP3 +OMIM:602182 skos:exactMatch UMLS:C1414409 Unspecified ENPP3 +OMIM:602183 skos:exactMatch UMLS:C1412734 Unspecified NKX3-2 +OMIM:602183 skos:exactMatch HGNC:951 Unspecified NKX3-2 +OMIM:602183 skos:exactMatch HGNC_symbol:NKX3-2 Unspecified NKX3-2 +OMIM:602184 skos:exactMatch HGNC:7719 Unspecified NDUFV3 +OMIM:602184 skos:exactMatch UMLS:C1417655 Unspecified NDUFV3 +OMIM:602184 skos:exactMatch HGNC_symbol:NDUFV3 Unspecified NDUFV3 +OMIM:192132 skos:exactMatch UMLS:C1412673 Unspecified ATP6V1B1 +OMIM:192132 skos:exactMatch UMLS:C4016429 Unspecified ATP6V1B1 +OMIM:192132 skos:exactMatch HGNC_symbol:ATP6V1B1 Unspecified ATP6V1B1 +OMIM:192132 skos:exactMatch HGNC:853 Unspecified ATP6V1B1 +OMIM:602186 skos:exactMatch HGNC:12684 Unspecified VGF +OMIM:602186 skos:exactMatch HGNC_symbol:VGF Unspecified VGF +OMIM:602186 skos:exactMatch UMLS:C1421447 Unspecified VGF +OMIM:602187 skos:exactMatch HGNC:12986 Unspecified ZNF195 +OMIM:602187 skos:exactMatch HGNC_symbol:ZNF195 Unspecified ZNF195 +OMIM:602187 skos:exactMatch UMLS:C1421683 Unspecified ZNF195 +OMIM:602188 skos:exactMatch UMLS:C1333338 Unspecified EPHA4 +OMIM:602188 skos:exactMatch HGNC_symbol:EPHA4 Unspecified EPHA4 +OMIM:602188 skos:exactMatch HGNC:3388 Unspecified EPHA4 +OMIM:192130 skos:exactMatch HGNC_symbol:ATP6V0A1 Unspecified ATP6V0A1 +OMIM:192130 skos:exactMatch HGNC:865 Unspecified ATP6V0A1 +OMIM:192130 skos:exactMatch UMLS:C1412685 Unspecified ATP6V0A1 +OMIM:602189 skos:exactMatch HGNC:9999 Unspecified RGS3 +OMIM:602189 skos:exactMatch UMLS:C1335617 Unspecified RGS3 +OMIM:602189 skos:exactMatch HGNC_symbol:RGS3 Unspecified RGS3 +OMIM:602168 skos:exactMatch HGNC_symbol:VRK1 Unspecified VRK1 +OMIM:602168 skos:exactMatch HGNC:12718 Unspecified VRK1 +OMIM:602168 skos:exactMatch UMLS:C1421468 Unspecified VRK1 +OMIM:602169 skos:exactMatch HGNC_symbol:VRK2 Unspecified VRK2 +OMIM:602169 skos:exactMatch HGNC:12719 Unspecified VRK2 +OMIM:602169 skos:exactMatch UMLS:C1421469 Unspecified VRK2 +OMIM:614149 skos:exactMatch UMLS:C3279947 Unspecified nail disorder, nonsyndromic congenital, 9 +OMIM:614148 skos:exactMatch HGNC:34072 Unspecified C1QTNF9B +OMIM:614148 skos:exactMatch UMLS:C3146706 Unspecified C1QTNF9B +OMIM:614148 skos:exactMatch HGNC_symbol:C1QTNF9B Unspecified C1QTNF9B +OMIM:614147 skos:exactMatch HGNC_symbol:C1QTNF8 Unspecified C1QTNF8 +OMIM:614147 skos:exactMatch HGNC:31374 Unspecified C1QTNF8 +OMIM:614147 skos:exactMatch UMLS:C1429194 Unspecified C1QTNF8 +OMIM:614156 skos:exactMatch UMLS:C3279964 Unspecified hyperbiliverdinemia +OMIM:614155 skos:exactMatch UMLS:C2681776 Unspecified MIR1292 +OMIM:614155 skos:exactMatch HGNC_symbol:MIR1292 Unspecified MIR1292 +OMIM:614155 skos:exactMatch HGNC:35364 Unspecified MIR1292 +OMIM:614154 skos:exactMatch HGNC:15911 Unspecified NOP56 +OMIM:614154 skos:exactMatch UMLS:C2678521 Unspecified NOP56 +OMIM:614154 skos:exactMatch HGNC_symbol:NOP56 Unspecified NOP56 +OMIM:614153 skos:exactMatch UMLS:C3472711 Unspecified spinocerebellar ataxia 36 +OMIM:614152 skos:exactMatch UMLS:C3279948 Unspecified deafness, autosomal dominant 64 +OMIM:614151 skos:exactMatch HGNC:25539 Unspecified RFWD3 +OMIM:614151 skos:exactMatch UMLS:C1538832 Unspecified RFWD3 +OMIM:614151 skos:exactMatch HGNC_symbol:RFWD3 Unspecified RFWD3 +OMIM:602170 skos:exactMatch UMLS:C2677092 Unspecified MYD88 +OMIM:602170 skos:exactMatch HGNC:7562 Unspecified MYD88 +OMIM:602170 skos:exactMatch HGNC_symbol:MYD88 Unspecified MYD88 +OMIM:602170 skos:exactMatch UMLS:C1417530 Unspecified MYD88 +OMIM:602170 skos:exactMatch UMLS:C3549870 Unspecified MYD88 +OMIM:614150 skos:exactMatch UMLS:C5394173 Unspecified PKDCC +OMIM:614150 skos:exactMatch HGNC_symbol:PKDCC Unspecified PKDCC +OMIM:614150 skos:exactMatch HGNC:25123 Unspecified PKDCC +OMIM:614150 skos:exactMatch UMLS:C2828534 Unspecified PKDCC +OMIM:602171 skos:exactMatch HGNC:4445 Unspecified GPA33 +OMIM:602171 skos:exactMatch HGNC_symbol:GPA33 Unspecified GPA33 +OMIM:602171 skos:exactMatch UMLS:C1364020 Unspecified GPA33 +OMIM:602172 skos:exactMatch HGNC_symbol:CYP8B1 Unspecified CYP8B1 +OMIM:602172 skos:exactMatch UMLS:C1413895 Unspecified CYP8B1 +OMIM:602172 skos:exactMatch HGNC:2653 Unspecified CYP8B1 +OMIM:602173 skos:exactMatch HGNC:11846 Unspecified SEC62 +OMIM:602173 skos:exactMatch HGNC_symbol:SEC62 Unspecified SEC62 +OMIM:602173 skos:exactMatch UMLS:C1420761 Unspecified SEC62 +OMIM:602174 skos:exactMatch HGNC_symbol:GPR25 Unspecified GPR25 +OMIM:602174 skos:exactMatch HGNC:4480 Unspecified GPR25 +OMIM:602174 skos:exactMatch UMLS:C1415218 Unspecified GPR25 +OMIM:602175 skos:exactMatch HGNC:9539 Unspecified PSMB2 +OMIM:602175 skos:exactMatch UMLS:C1419012 Unspecified PSMB2 +OMIM:602175 skos:exactMatch HGNC_symbol:PSMB2 Unspecified PSMB2 +OMIM:602176 skos:exactMatch HGNC:9540 Unspecified PSMB3 +OMIM:602176 skos:exactMatch UMLS:C1419013 Unspecified PSMB3 +OMIM:602176 skos:exactMatch HGNC_symbol:PSMB3 Unspecified PSMB3 +OMIM:602177 skos:exactMatch HGNC:9541 Unspecified PSMB4 +OMIM:602177 skos:exactMatch UMLS:C1419014 Unspecified PSMB4 +OMIM:602177 skos:exactMatch HGNC_symbol:PSMB4 Unspecified PSMB4 +OMIM:602178 skos:exactMatch HGNC_symbol:CHAD Unspecified CHAD +OMIM:602178 skos:exactMatch UMLS:C1413373 Unspecified CHAD +OMIM:602178 skos:exactMatch HGNC:1909 Unspecified CHAD +OMIM:202010 skos:exactMatch UMLS:C0268292 Unspecified adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency +OMIM:253601 skos:exactMatch UMLS:C1850889 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 2 +OMIM:253601 skos:exactMatch ORPHA:268 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 2 +OMIM:253600 skos:exactMatch UMLS:C1869123 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 1 +OMIM:253600 skos:exactMatch ORPHA:267 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 1 +OMIM:302910 skos:exactMatch HGNC_symbol:CLCN4 Unspecified CLCN4 +OMIM:302910 skos:exactMatch UMLS:C1413453 Unspecified CLCN4 +OMIM:302910 skos:exactMatch HGNC:2022 Unspecified CLCN4 +OMIM:180190 skos:exactMatch HGNC_symbol:RARG Unspecified RARG +OMIM:180190 skos:exactMatch HGNC:9866 Unspecified RARG +OMIM:180190 skos:exactMatch UMLS:C1419272 Unspecified RARG +OMIM:180190 skos:exactMatch UMLS:C3277465 Unspecified RARG +OMIM:204690 skos:exactMatch UMLS:C2931783 Unspecified amelogenesis imperfecta, iia 1g +OMIM:226000 skos:exactMatch UMLS:C0014117 Unspecified endocardial fibroelastosis +OMIM:241600 skos:exactMatch UMLS:C1855796 Unspecified immunodeficiency 43 +OMIM:614199 skos:exactMatch UMLS:C3280113 Unspecified nephrotic syndrome, iia 5, with or without ocular abnormalities +OMIM:614198 skos:exactMatch UMLS:C3280112 Unspecified myasthenic syndrome, congenital, 16 +OMIM:614197 skos:exactMatch HGNC:23526 Unspecified MCU +OMIM:614197 skos:exactMatch UMLS:C1824637 Unspecified MCU +OMIM:614197 skos:exactMatch HGNC_symbol:MCU Unspecified MCU +OMIM:614196 skos:exactMatch UMLS:C3280100 Unspecified nephrotic syndrome, iia 6 +OMIM:614195 skos:exactMatch UMLS:C3280099 Unspecified craniofacial anomalies and anterior segment dysgenesis syndrome +OMIM:614194 skos:exactMatch HGNC:19189 Unspecified DOCK6 +OMIM:614194 skos:exactMatch UMLS:C1426077 Unspecified DOCK6 +OMIM:614194 skos:exactMatch HGNC_symbol:DOCK6 Unspecified DOCK6 +OMIM:614193 skos:exactMatch UMLS:C3280096 Unspecified transferrin serum level quantitative trait locus 2 +OMIM:314900 skos:exactMatch UMLS:C1839088 Unspecified xm system +OMIM:614191 skos:exactMatch HGNC:18423 Unspecified DEPDC5 +OMIM:614191 skos:exactMatch HGNC_symbol:DEPDC5 Unspecified DEPDC5 +OMIM:614191 skos:exactMatch UMLS:C1539268 Unspecified DEPDC5 +OMIM:614190 skos:exactMatch UMLS:C3280094 Unspecified pigmented nodular adrenocortical disease, primary, 3 +OMIM:118190 skos:exactMatch HGNC:5261 Unspecified HSPD1 +OMIM:118190 skos:exactMatch UMLS:C1415782 Unspecified HSPD1 +OMIM:118190 skos:exactMatch HGNC_symbol:HSPD1 Unspecified HSPD1 +OMIM:106180 skos:exactMatch UMLS:C1413931 Unspecified ACE +OMIM:106180 skos:exactMatch UMLS:C1862873 Unspecified ACE +OMIM:106180 skos:exactMatch UMLS:C1862874 Unspecified ACE +OMIM:106180 skos:exactMatch UMLS:C1862886 Unspecified ACE +OMIM:106180 skos:exactMatch HGNC_symbol:ACE Unspecified ACE +OMIM:106180 skos:exactMatch HGNC:2707 Unspecified ACE +OMIM:133800 skos:exactMatch UMLS:C1851401 Unspecified eyebrow, whorl 1n +OMIM:106195 skos:exactMatch HGNC:11029 Unspecified SLC4A3 +OMIM:106195 skos:exactMatch UMLS:C1420195 Unspecified SLC4A3 +OMIM:106195 skos:exactMatch HGNC_symbol:SLC4A3 Unspecified SLC4A3 +OMIM:106190 skos:exactMatch ORPHA:468666 Unspecified anhidrosis, isolated, with normal sweat glands +OMIM:106190 skos:exactMatch UMLS:C1862871 Unspecified anhidrosis, isolated, with normal sweat glands +OMIM:204650 skos:exactMatch UMLS:C2673923 Unspecified amelogenesis imperfecta, iia 1c +OMIM:228600 skos:exactMatch UMLS:C2745948 Unspecified hyaline fibromatosis syndrome +OMIM:106165 skos:exactMatch HGNC:336 Unspecified AGTR1 +OMIM:106165 skos:exactMatch UMLS:C1439284 Unspecified AGTR1 +OMIM:106165 skos:exactMatch UMLS:C3837652 Unspecified AGTR1 +OMIM:106165 skos:exactMatch UMLS:C0266313 Unspecified AGTR1 +OMIM:106165 skos:exactMatch HGNC_symbol:AGTR1 Unspecified AGTR1 +OMIM:145800 skos:exactMatch UMLS:C1840361 Unspecified hypertrophia musculorum vera +OMIM:106150 skos:exactMatch HGNC:333 Unspecified AGT +OMIM:106150 skos:exactMatch HGNC_symbol:AGT Unspecified AGT +OMIM:106150 skos:exactMatch UMLS:C1366631 Unspecified AGT +OMIM:106150 skos:exactMatch UMLS:C1862886 Unspecified AGT +OMIM:157800 skos:exactMatch UMLS:C2931461 Unspecified cardiospondylocarpofacial syndrome +OMIM:157800 skos:exactMatch ORPHA:3238 Unspecified cardiospondylocarpofacial syndrome +OMIM:300395 skos:exactMatch UMLS:C1425990 Unspecified THOC2 +OMIM:300395 skos:exactMatch HGNC:19073 Unspecified THOC2 +OMIM:300395 skos:exactMatch HGNC_symbol:THOC2 Unspecified THOC2 +OMIM:300394 skos:exactMatch HGNC:11577 Unspecified TAFAZZIN +OMIM:300394 skos:exactMatch HGNC_symbol:TAFAZZIN Unspecified TAFAZZIN +OMIM:300394 skos:exactMatch UMLS:C1336578 Unspecified TAFAZZIN +OMIM:300396 skos:exactMatch UMLS:C1413788 Unspecified CTAG2 +OMIM:300396 skos:exactMatch HGNC:2492 Unspecified CTAG2 +OMIM:300396 skos:exactMatch HGNC_symbol:CTAG2 Unspecified CTAG2 +OMIM:300399 skos:exactMatch UMLS:C1424886 Unspecified PCSK1N +OMIM:300399 skos:exactMatch HGNC_symbol:PCSK1N Unspecified PCSK1N +OMIM:300399 skos:exactMatch HGNC:17301 Unspecified PCSK1N +OMIM:300398 skos:exactMatch UMLS:C1424489 Unspecified BCAP31 +OMIM:300398 skos:exactMatch HGNC_symbol:BCAP31 Unspecified BCAP31 +OMIM:300398 skos:exactMatch HGNC:16695 Unspecified BCAP31 +OMIM:106240 skos:exactMatch UMLS:C0003079 Unspecified anisocoria +OMIM:118230 skos:exactMatch UMLS:C1861673 Unspecified charcot-marie-tooth disease, guadalajara neuronal iia +OMIM:106250 skos:exactMatch UMLS:C1862866 Unspecified ankyloblepharon filiforme adnatum and cleft palate +OMIM:133750 skos:exactMatch UMLS:C1851412 Unspecified extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly +OMIM:157700 skos:exactMatch ORPHA:741 Unspecified mitral valve prolapse 1 +OMIM:157700 skos:exactMatch UMLS:C0340364 Unspecified mitral valve prolapse 1 +OMIM:157700 skos:exactMatch UMLS:C1834819 Unspecified mitral valve prolapse 1 +OMIM:118220 skos:exactMatch UMLS:C0270911 Unspecified charcot-marie-tooth disease, demyelinating, iia 1a +OMIM:118220 skos:exactMatch ORPHA:101081 Unspecified charcot-marie-tooth disease, demyelinating, iia 1a +OMIM:300373 skos:exactMatch ORPHA:2780 Unspecified osteopathia striata with cranial sclerosis +OMIM:300373 skos:exactMatch UMLS:C0432268 Unspecified osteopathia striata with cranial sclerosis +OMIM:300372 skos:exactMatch UMLS:C1845810 Unspecified intellectual developmental disorder, X-linked 42 +OMIM:300375 skos:exactMatch HGNC_symbol:CHST7 Unspecified CHST7 +OMIM:300375 skos:exactMatch HGNC:13817 Unspecified CHST7 +OMIM:300375 skos:exactMatch UMLS:C1422212 Unspecified CHST7 +OMIM:300374 skos:exactMatch HGNC:13867 Unspecified SH3KBP1 +OMIM:300374 skos:exactMatch UMLS:C1422243 Unspecified SH3KBP1 +OMIM:300374 skos:exactMatch HGNC_symbol:SH3KBP1 Unspecified SH3KBP1 +OMIM:300377 skos:exactMatch HGNC:2928 Unspecified DMD +OMIM:300377 skos:exactMatch HGNC_symbol:DMD Unspecified DMD +OMIM:300377 skos:exactMatch UMLS:C1414083 Unspecified DMD +OMIM:106220 skos:exactMatch UMLS:C1862868 Unspecified aniridia and absent patella +OMIM:131100 skos:exactMatch UMLS:C3149237 Unspecified multiple endocrine neoplasia, iia 1 +OMIM:131100 skos:exactMatch UMLS:C0025267 Unspecified multiple endocrine neoplasia, iia 1 +OMIM:300376 skos:exactMatch UMLS:C0917713 Unspecified muscular dystrophy, becker iia +OMIM:300379 skos:exactMatch HGNC:13429 Unspecified RLIM +OMIM:300379 skos:exactMatch HGNC_symbol:RLIM Unspecified RLIM +OMIM:300379 skos:exactMatch UMLS:C1421987 Unspecified RLIM +OMIM:300378 skos:exactMatch UMLS:C1845717 Unspecified radial ray deficiency, X-linked +OMIM:170700 skos:exactMatch UMLS:C4721502 Unspecified peripheral dysostosis +OMIM:169710 skos:exactMatch HGNC:8885 Unspecified pepsinogen 3, group 1 +OMIM:169710 skos:exactMatch HGNC_symbol:PGA3 Unspecified pepsinogen 3, group 1 +OMIM:169710 skos:exactMatch UMLS:C3887963 Unspecified pepsinogen 3, group 1 +OMIM:118210 skos:exactMatch UMLS:C1861678 Unspecified charcot-marie-tooth disease, axonal, iia 2a1 +OMIM:300380 skos:exactMatch UMLS:C1413805 Unspecified CTPS2 +OMIM:300380 skos:exactMatch HGNC_symbol:CTPS2 Unspecified CTPS2 +OMIM:300380 skos:exactMatch HGNC:2520 Unspecified CTPS2 +OMIM:121850 skos:exactMatch UMLS:C1562113 Unspecified corneal dystrophy, fleck +OMIM:300382 skos:exactMatch UMLS:C0796124 Unspecified ARX +OMIM:300382 skos:exactMatch UMLS:C0796250 Unspecified ARX +OMIM:300382 skos:exactMatch UMLS:C0796244 Unspecified ARX +OMIM:300382 skos:exactMatch HGNC:18060 Unspecified ARX +OMIM:300382 skos:exactMatch UMLS:C4015968 Unspecified ARX +OMIM:300382 skos:exactMatch HGNC_symbol:ARX Unspecified ARX +OMIM:300382 skos:exactMatch UMLS:C3463992 Unspecified ARX +OMIM:300382 skos:exactMatch UMLS:C1425272 Unspecified ARX +OMIM:300382 skos:exactMatch UMLS:C1846171 Unspecified ARX +OMIM:300382 skos:exactMatch UMLS:C1846172 Unspecified ARX +OMIM:300381 skos:exactMatch HGNC:12976 Unspecified ZNF185 +OMIM:300381 skos:exactMatch HGNC_symbol:ZNF185 Unspecified ZNF185 +OMIM:300381 skos:exactMatch UMLS:C1421675 Unspecified ZNF185 +OMIM:300384 skos:exactMatch HGNC:3331 Unspecified EMD +OMIM:300384 skos:exactMatch HGNC_symbol:EMD Unspecified EMD +OMIM:300384 skos:exactMatch UMLS:C1414386 Unspecified EMD +OMIM:300383 skos:exactMatch HGNC:8864 Unspecified CFP +OMIM:300383 skos:exactMatch UMLS:C1418482 Unspecified CFP +OMIM:300383 skos:exactMatch HGNC_symbol:CFP Unspecified CFP +OMIM:300386 skos:exactMatch UMLS:C1539082 Unspecified CD40LG +OMIM:300386 skos:exactMatch HGNC:11935 Unspecified CD40LG +OMIM:300386 skos:exactMatch HGNC_symbol:CD40LG Unspecified CD40LG +OMIM:300385 skos:exactMatch HGNC_symbol:HMGN5 Unspecified NSBP1 +OMIM:300385 skos:exactMatch UMLS:C1417854 Unspecified NSBP1 +OMIM:300385 skos:exactMatch HGNC:8013 Unspecified NSBP1 +OMIM:300388 skos:exactMatch UMLS:C1845668 Unspecified polymicrogyria, bilateral perisylvian, X-linked +OMIM:300387 skos:exactMatch UMLS:C1845672 Unspecified intellectual developmental disorder, X-linked 63 +OMIM:106230 skos:exactMatch UMLS:C1862867 Unspecified aniridia, microcornea, and spontaneously reabsorbed cataract +OMIM:118200 skos:exactMatch UMLS:C0751036 Unspecified charcot-marie-tooth disease, demyelinating, iia 1b +OMIM:118200 skos:exactMatch UMLS:C0270912 Unspecified charcot-marie-tooth disease, demyelinating, iia 1b +OMIM:118200 skos:exactMatch UMLS:C0007959 Unspecified charcot-marie-tooth disease, demyelinating, iia 1b +OMIM:118200 skos:exactMatch ORPHA:101082 Unspecified charcot-marie-tooth disease, demyelinating, iia 1b +OMIM:145750 skos:exactMatch UMLS:C0020480 Unspecified hypertriglyceridemia 1 +OMIM:169700 skos:exactMatch UMLS:C1868501 Unspecified PG +OMIM:300391 skos:exactMatch HGNC_symbol:AMELX Unspecified AMELX +OMIM:300391 skos:exactMatch HGNC:461 Unspecified AMELX +OMIM:300391 skos:exactMatch UMLS:C1412382 Unspecified AMELX +OMIM:300390 skos:exactMatch HGNC_symbol:CHM Unspecified CHM +OMIM:300390 skos:exactMatch HGNC:1940 Unspecified CHM +OMIM:300390 skos:exactMatch UMLS:C1413394 Unspecified CHM +OMIM:300393 skos:exactMatch HGNC:14963 Unspecified GPR101 +OMIM:300393 skos:exactMatch UMLS:C1423091 Unspecified GPR101 +OMIM:300393 skos:exactMatch HGNC_symbol:GPR101 Unspecified GPR101 +OMIM:300392 skos:exactMatch HGNC_symbol:WAS Unspecified WAS +OMIM:300392 skos:exactMatch HGNC:12731 Unspecified WAS +OMIM:300392 skos:exactMatch UMLS:C1421478 Unspecified WAS +OMIM:133780 skos:exactMatch UMLS:C0035344 Unspecified exudative vitreoretinopathy 1 +OMIM:133780 skos:exactMatch UMLS:C1851402 Unspecified exudative vitreoretinopathy 1 +OMIM:604732 skos:exactMatch HGNC:11754 Unspecified TFEC +OMIM:604732 skos:exactMatch UMLS:C1420700 Unspecified TFEC +OMIM:604732 skos:exactMatch HGNC_symbol:TFEC Unspecified TFEC +OMIM:604731 skos:exactMatch HGNC_symbol:USP15 Unspecified USP15 +OMIM:604731 skos:exactMatch HGNC:12613 Unspecified USP15 +OMIM:604731 skos:exactMatch UMLS:C1421392 Unspecified USP15 +OMIM:604734 skos:exactMatch UMLS:C0272174 Unspecified WDR1 +OMIM:604734 skos:exactMatch HGNC:12754 Unspecified WDR1 +OMIM:604734 skos:exactMatch HGNC_symbol:WDR1 Unspecified WDR1 +OMIM:604734 skos:exactMatch UMLS:C1421493 Unspecified WDR1 +OMIM:604733 skos:exactMatch HGNC:12730 Unspecified WARS2 +OMIM:604733 skos:exactMatch UMLS:C1421477 Unspecified WARS2 +OMIM:604733 skos:exactMatch HGNC_symbol:WARS2 Unspecified WARS2 +OMIM:604736 skos:exactMatch HGNC_symbol:USP25 Unspecified USP25 +OMIM:604736 skos:exactMatch HGNC:12624 Unspecified USP25 +OMIM:604736 skos:exactMatch UMLS:C1421402 Unspecified USP25 +OMIM:604735 skos:exactMatch HGNC_symbol:USP16 Unspecified USP16 +OMIM:604735 skos:exactMatch HGNC:12614 Unspecified USP16 +OMIM:604735 skos:exactMatch UMLS:C1421393 Unspecified USP16 +OMIM:604738 skos:exactMatch HGNC_symbol:CCR9 Unspecified CCR9 +OMIM:604738 skos:exactMatch HGNC:1610 Unspecified CCR9 +OMIM:604738 skos:exactMatch UMLS:C1332703 Unspecified CCR9 +OMIM:604737 skos:exactMatch HGNC:12755 Unspecified WDR3 +OMIM:604737 skos:exactMatch HGNC_symbol:WDR3 Unspecified WDR3 +OMIM:604737 skos:exactMatch UMLS:C1421494 Unspecified WDR3 +OMIM:604739 skos:exactMatch HGNC_symbol:RBM39 Unspecified RBM39 +OMIM:604739 skos:exactMatch HGNC:15923 Unspecified RBM39 +OMIM:604739 skos:exactMatch UMLS:C1826781 Unspecified RBM39 +OMIM:616720 skos:exactMatch UMLS:C4225235 Unspecified myasthenic syndrome, congenital, 19 +OMIM:616710 skos:exactMatch UMLS:C4225238 Unspecified parkinson disease 22, autosomal dominant +OMIM:616711 skos:exactMatch HGNC_symbol:TAOK3 Unspecified TAOK3 +OMIM:616711 skos:exactMatch UMLS:C1539924 Unspecified TAOK3 +OMIM:616711 skos:exactMatch HGNC:18133 Unspecified TAOK3 +OMIM:616712 skos:exactMatch UMLS:C1425274 Unspecified STARD7 +OMIM:616712 skos:exactMatch HGNC_symbol:STARD7 Unspecified STARD7 +OMIM:616712 skos:exactMatch HGNC:18063 Unspecified STARD7 +OMIM:616712 skos:exactMatch UMLS:C1842852 Unspecified STARD7 +OMIM:616713 skos:exactMatch HGNC:17804 Unspecified PIPOX +OMIM:616713 skos:exactMatch UMLS:C1425088 Unspecified PIPOX +OMIM:616713 skos:exactMatch HGNC_symbol:PIPOX Unspecified PIPOX +OMIM:616714 skos:exactMatch UMLS:C1427984 Unspecified HBP1 +OMIM:616714 skos:exactMatch HGNC_symbol:HBP1 Unspecified HBP1 +OMIM:616714 skos:exactMatch HGNC:23200 Unspecified HBP1 +OMIM:169730 skos:exactMatch HGNC:8887 Unspecified PGA5 +OMIM:169730 skos:exactMatch HGNC_symbol:PGA5 Unspecified PGA5 +OMIM:169730 skos:exactMatch UMLS:C1418500 Unspecified PGA5 +OMIM:616715 skos:exactMatch HGNC_symbol:TMX2 Unspecified TMX2 +OMIM:616715 skos:exactMatch HGNC:30739 Unspecified TMX2 +OMIM:616715 skos:exactMatch UMLS:C5231480 Unspecified TMX2 +OMIM:616715 skos:exactMatch UMLS:C2680492 Unspecified TMX2 +OMIM:616716 skos:exactMatch UMLS:C4225237 Unspecified rhizomelic chondrodysplasia punctata, iia 5 +OMIM:143100 skos:exactMatch UMLS:C0020179 Unspecified huntington disease +OMIM:143100 skos:exactMatch ORPHA:399 Unspecified huntington disease +OMIM:143100 skos:exactMatch ORPHA:248111 Unspecified huntington disease +OMIM:616717 skos:exactMatch UMLS:C1428542 Unspecified TEX10 +OMIM:616717 skos:exactMatch HGNC:25988 Unspecified TEX10 +OMIM:616717 skos:exactMatch HGNC_symbol:TEX10 Unspecified TEX10 +OMIM:616718 skos:exactMatch HGNC_symbol:NGRN Unspecified NGRN +OMIM:616718 skos:exactMatch HGNC:18077 Unspecified NGRN +OMIM:616718 skos:exactMatch UMLS:C1826401 Unspecified NGRN +OMIM:616719 skos:exactMatch UMLS:C4225236 Unspecified spinocerebellar ataxia, autosomal recessive 21 +OMIM:604741 skos:exactMatch UMLS:C1412328 Unspecified AKR1D1 +OMIM:604741 skos:exactMatch HGNC_symbol:AKR1D1 Unspecified AKR1D1 +OMIM:604741 skos:exactMatch HGNC:388 Unspecified AKR1D1 +OMIM:604740 skos:exactMatch HGNC_symbol:SLC39A1 Unspecified SLC39A1 +OMIM:604740 skos:exactMatch HGNC:12876 Unspecified SLC39A1 +OMIM:604740 skos:exactMatch UMLS:C1421585 Unspecified SLC39A1 +OMIM:604721 skos:exactMatch HGNC:16885 Unspecified SH2D3A +OMIM:604721 skos:exactMatch HGNC_symbol:SH2D3A Unspecified SH2D3A +OMIM:604721 skos:exactMatch UMLS:C1335817 Unspecified SH2D3A +OMIM:604720 skos:exactMatch HGNC_symbol:TFR2 Unspecified TFR2 +OMIM:604720 skos:exactMatch HGNC:11762 Unspecified TFR2 +OMIM:604720 skos:exactMatch UMLS:C1420707 Unspecified TFR2 +OMIM:604723 skos:exactMatch HGNC:12367 Unspecified TSFM +OMIM:604723 skos:exactMatch HGNC_symbol:TSFM Unspecified TSFM +OMIM:604723 skos:exactMatch UMLS:C1421196 Unspecified TSFM +OMIM:604722 skos:exactMatch HGNC:16884 Unspecified SH2D3C +OMIM:604722 skos:exactMatch HGNC_symbol:SH2D3C Unspecified SH2D3C +OMIM:604722 skos:exactMatch UMLS:C1335818 Unspecified SH2D3C +OMIM:604725 skos:exactMatch HGNC_symbol:USP2 Unspecified USP2 +OMIM:604725 skos:exactMatch HGNC:12618 Unspecified USP2 +OMIM:604725 skos:exactMatch UMLS:C1421397 Unspecified USP2 +OMIM:106210 skos:exactMatch UMLS:C0003076 Unspecified aniridia 1 +OMIM:106210 skos:exactMatch UMLS:C3805349 Unspecified aniridia 1 +OMIM:604724 skos:exactMatch HGNC:5164 Unspecified HPSE +OMIM:604724 skos:exactMatch HGNC_symbol:HPSE Unspecified HPSE +OMIM:604724 skos:exactMatch UMLS:C1367469 Unspecified HPSE +OMIM:604727 skos:exactMatch UMLS:C1420469 Unspecified STK17B +OMIM:604727 skos:exactMatch HGNC_symbol:STK17B Unspecified STK17B +OMIM:604727 skos:exactMatch HGNC:11396 Unspecified STK17B +OMIM:604726 skos:exactMatch UMLS:C1420468 Unspecified STK17A +OMIM:604726 skos:exactMatch HGNC_symbol:STK17A Unspecified STK17A +OMIM:604726 skos:exactMatch HGNC:11395 Unspecified STK17A +OMIM:604729 skos:exactMatch HGNC_symbol:USP21 Unspecified USP21 +OMIM:604729 skos:exactMatch HGNC:12620 Unspecified USP21 +OMIM:604729 skos:exactMatch UMLS:C1421399 Unspecified USP21 +OMIM:604728 skos:exactMatch HGNC_symbol:USP3 Unspecified USP3 +OMIM:604728 skos:exactMatch HGNC:12626 Unspecified USP3 +OMIM:604728 skos:exactMatch UMLS:C1421404 Unspecified USP3 +OMIM:170710 skos:exactMatch UMLS:C1418953 Unspecified PRPH +OMIM:170710 skos:exactMatch HGNC_symbol:PRPH Unspecified PRPH +OMIM:170710 skos:exactMatch HGNC:9461 Unspecified PRPH +OMIM:170715 skos:exactMatch UMLS:C1418676 Unspecified PMP2 +OMIM:170715 skos:exactMatch HGNC_symbol:PMP2 Unspecified PMP2 +OMIM:170715 skos:exactMatch HGNC:9117 Unspecified PMP2 +OMIM:616700 skos:exactMatch HGNC_symbol:COMMD3 Unspecified COMMD3 +OMIM:616700 skos:exactMatch HGNC:23332 Unspecified COMMD3 +OMIM:616700 skos:exactMatch UMLS:C1428040 Unspecified COMMD3 +OMIM:616701 skos:exactMatch UMLS:C1428546 Unspecified COMMD4 +OMIM:616701 skos:exactMatch HGNC_symbol:COMMD4 Unspecified COMMD4 +OMIM:616701 skos:exactMatch HGNC:26027 Unspecified COMMD4 +OMIM:616702 skos:exactMatch HGNC_symbol:ZNF589 Unspecified ZNF589 +OMIM:616702 skos:exactMatch HGNC:16747 Unspecified ZNF589 +OMIM:616702 skos:exactMatch UMLS:C1424517 Unspecified ZNF589 +OMIM:616703 skos:exactMatch HGNC:16223 Unspecified COMMD7 +OMIM:616703 skos:exactMatch HGNC_symbol:COMMD7 Unspecified COMMD7 +OMIM:616703 skos:exactMatch UMLS:C1424099 Unspecified COMMD7 +OMIM:143110 skos:exactMatch HGNC_symbol:HLA-F Unspecified HLA-F +OMIM:143110 skos:exactMatch HGNC:4963 Unspecified HLA-F +OMIM:143110 skos:exactMatch UMLS:C1415586 Unspecified HLA-F +OMIM:616704 skos:exactMatch HGNC_symbol:COMMD10 Unspecified COMMD10 +OMIM:616704 skos:exactMatch UMLS:C1428942 Unspecified COMMD10 +OMIM:616704 skos:exactMatch HGNC:30201 Unspecified COMMD10 +OMIM:169720 skos:exactMatch HGNC:8886 Unspecified PGA4 +OMIM:169720 skos:exactMatch HGNC_symbol:PGA4 Unspecified PGA4 +OMIM:169720 skos:exactMatch UMLS:C1418499 Unspecified PGA4 +OMIM:616705 skos:exactMatch UMLS:C4084709 Unspecified deafness, autosomal recessive 97 +OMIM:616706 skos:exactMatch HGNC:1186 Unspecified PARP11 +OMIM:616706 skos:exactMatch HGNC_symbol:PARP11 Unspecified PARP11 +OMIM:616706 skos:exactMatch UMLS:C1538588 Unspecified PARP11 +OMIM:616707 skos:exactMatch ORPHA:90635 Unspecified deafness, autosomal dominant 68 +OMIM:616707 skos:exactMatch UMLS:C4225240 Unspecified deafness, autosomal dominant 68 +OMIM:616708 skos:exactMatch ORPHA:284169 Unspecified desanto-shinawi syndrome +OMIM:616708 skos:exactMatch ORPHA:466943 Unspecified desanto-shinawi syndrome +OMIM:616708 skos:exactMatch ORPHA:466950 Unspecified desanto-shinawi syndrome +OMIM:616708 skos:exactMatch UMLS:C4225239 Unspecified desanto-shinawi syndrome +OMIM:616709 skos:exactMatch UMLS:C1538890 Unspecified A4GNT +OMIM:616709 skos:exactMatch HGNC:17968 Unspecified A4GNT +OMIM:616709 skos:exactMatch HGNC_symbol:A4GNT Unspecified A4GNT +OMIM:604730 skos:exactMatch HGNC:12425 Unspecified TULP3 +OMIM:604730 skos:exactMatch HGNC_symbol:TULP3 Unspecified TULP3 +OMIM:604730 skos:exactMatch UMLS:C1421243 Unspecified TULP3 +OMIM:121820 skos:exactMatch UMLS:C0521723 Unspecified corneal dystrophy, epithelial basement membrane +OMIM:121820 skos:exactMatch ORPHA:98956 Unspecified corneal dystrophy, epithelial basement membrane +OMIM:604710 skos:exactMatch HGNC_symbol:LTBP4 Unspecified LTBP4 +OMIM:604710 skos:exactMatch UMLS:C1416930 Unspecified LTBP4 +OMIM:604710 skos:exactMatch HGNC:6717 Unspecified LTBP4 +OMIM:604712 skos:exactMatch HGNC:17296 Unspecified RRM2B +OMIM:604712 skos:exactMatch UMLS:C2751319 Unspecified RRM2B +OMIM:604712 skos:exactMatch UMLS:C2986382 Unspecified RRM2B +OMIM:604712 skos:exactMatch HGNC_symbol:RRM2B Unspecified RRM2B +OMIM:604712 skos:exactMatch UMLS:C1424883 Unspecified RRM2B +OMIM:604712 skos:exactMatch UMLS:C3150172 Unspecified RRM2B +OMIM:604712 skos:exactMatch UMLS:C2749861 Unspecified RRM2B +OMIM:604711 skos:exactMatch HGNC:12504 Unspecified UBL3 +OMIM:604711 skos:exactMatch UMLS:C1421300 Unspecified UBL3 +OMIM:604711 skos:exactMatch HGNC_symbol:UBL3 Unspecified UBL3 +OMIM:604714 skos:exactMatch HGNC_symbol:TSPYL1 Unspecified TSPYL1 +OMIM:604714 skos:exactMatch HGNC:12382 Unspecified TSPYL1 +OMIM:604714 skos:exactMatch UMLS:C1421208 Unspecified TSPYL1 +OMIM:604713 skos:exactMatch HGNC_symbol:CLEC11A Unspecified CLEC11A +OMIM:604713 skos:exactMatch UMLS:C1539105 Unspecified CLEC11A +OMIM:604713 skos:exactMatch HGNC:10576 Unspecified CLEC11A +OMIM:604716 skos:exactMatch UMLS:C1421334 Unspecified UGT2A1 +OMIM:604716 skos:exactMatch UMLS:C1823593 Unspecified UGT2A1 +OMIM:604716 skos:exactMatch HGNC_symbol:UGT2A1 Unspecified UGT2A1 +OMIM:604716 skos:exactMatch HGNC:12542 Unspecified UGT2A1 +OMIM:604715 skos:exactMatch UMLS:C1535893 Unspecified orthostatic intolerance +OMIM:604718 skos:exactMatch UMLS:C1421219 Unspecified TTF2 +OMIM:604718 skos:exactMatch HGNC_symbol:TTF2 Unspecified TTF2 +OMIM:604718 skos:exactMatch HGNC:12398 Unspecified TTF2 +OMIM:604717 skos:exactMatch UMLS:C1858172 Unspecified deafness, autosomal dominant 20 +OMIM:604719 skos:exactMatch UMLS:C1420467 Unspecified STK16 +OMIM:604719 skos:exactMatch HGNC_symbol:STK16 Unspecified STK16 +OMIM:604719 skos:exactMatch HGNC:11394 Unspecified STK16 +OMIM:277590 skos:exactMatch ORPHA:3447 Unspecified weaver syndrome +OMIM:277590 skos:exactMatch UMLS:C0265210 Unspecified weaver syndrome +OMIM:277580 skos:exactMatch UMLS:C1848519 Unspecified waardenburg syndrome, iia 4a +OMIM:131150 skos:exactMatch UMLS:C1414447 Unspecified ERV1 +OMIM:604701 skos:exactMatch HGNC:11983 Unspecified TOM1L1 +OMIM:604701 skos:exactMatch HGNC_symbol:TOM1L1 Unspecified TOM1L1 +OMIM:604701 skos:exactMatch UMLS:C1420855 Unspecified TOM1L1 +OMIM:604700 skos:exactMatch HGNC:11982 Unspecified TOM1 +OMIM:604700 skos:exactMatch UMLS:C1420854 Unspecified TOM1 +OMIM:604700 skos:exactMatch HGNC_symbol:TOM1 Unspecified TOM1 +OMIM:155100 skos:exactMatch ORPHA:182050 Unspecified macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +OMIM:155100 skos:exactMatch UMLS:C0398641 Unspecified macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +OMIM:155100 skos:exactMatch UMLS:C1842035 Unspecified macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +OMIM:155100 skos:exactMatch ORPHA:850 Unspecified macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +OMIM:155100 skos:exactMatch UMLS:C0403445 Unspecified macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +OMIM:155100 skos:exactMatch UMLS:C1854520 Unspecified macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +OMIM:155100 skos:exactMatch UMLS:C0340978 Unspecified macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +OMIM:604702 skos:exactMatch UMLS:C1415613 Unspecified HMGXB4 +OMIM:604702 skos:exactMatch HGNC:5003 Unspecified HMGXB4 +OMIM:604702 skos:exactMatch HGNC_symbol:HMGXB4 Unspecified HMGXB4 +OMIM:604705 skos:exactMatch UMLS:C1364081 Unspecified MERTK +OMIM:604705 skos:exactMatch HGNC:7027 Unspecified MERTK +OMIM:604705 skos:exactMatch HGNC_symbol:MERTK Unspecified MERTK +OMIM:604704 skos:exactMatch HGNC_symbol:BCAR3 Unspecified BCAR3 +OMIM:604704 skos:exactMatch HGNC:973 Unspecified BCAR3 +OMIM:604704 skos:exactMatch UMLS:C1332386 Unspecified BCAR3 +OMIM:604707 skos:exactMatch HGNC:382 Unspecified AKR1B10 +OMIM:604707 skos:exactMatch HGNC_symbol:AKR1B10 Unspecified AKR1B10 +OMIM:604707 skos:exactMatch UMLS:C1412323 Unspecified AKR1B10 +OMIM:604709 skos:exactMatch HGNC_symbol:TIAM2 Unspecified TIAM2 +OMIM:604709 skos:exactMatch HGNC:11806 Unspecified TIAM2 +OMIM:604709 skos:exactMatch UMLS:C1420732 Unspecified TIAM2 +OMIM:604708 skos:exactMatch UMLS:C1417693 Unspecified NFAT5 +OMIM:604708 skos:exactMatch HGNC_symbol:NFAT5 Unspecified NFAT5 +OMIM:604708 skos:exactMatch HGNC:7774 Unspecified NFAT5 +OMIM:169740 skos:exactMatch HGNC:8890 Unspecified PGC +OMIM:169740 skos:exactMatch HGNC_symbol:PGC Unspecified PGC +OMIM:169740 skos:exactMatch UMLS:C1418503 Unspecified PGC +OMIM:121800 skos:exactMatch UMLS:C0271287 Unspecified schnyder corneal dystrophy +OMIM:602113 skos:exactMatch HGNC_symbol:KMT2D Unspecified KMT2D +OMIM:602113 skos:exactMatch HGNC:7133 Unspecified KMT2D +OMIM:602113 skos:exactMatch UMLS:C1334512 Unspecified KMT2D +OMIM:604776 skos:exactMatch HGNC_symbol:HLA-DRB5 Unspecified HLA-DRB5 +OMIM:604776 skos:exactMatch HGNC:4953 Unspecified HLA-DRB5 +OMIM:604776 skos:exactMatch UMLS:C1415580 Unspecified HLA-DRB5 +OMIM:604775 skos:exactMatch HGNC:497 Unspecified TRPA1 +OMIM:604775 skos:exactMatch HGNC_symbol:TRPA1 Unspecified TRPA1 +OMIM:604775 skos:exactMatch UMLS:C3808667 Unspecified TRPA1 +OMIM:604775 skos:exactMatch UMLS:C1412407 Unspecified TRPA1 +OMIM:602114 skos:exactMatch UMLS:C1865831 Unspecified nephropathy, progressive tubulointerstitial, with cholestatic liver disease +OMIM:604778 skos:exactMatch HGNC_symbol:ADAM29 Unspecified ADAM29 +OMIM:604778 skos:exactMatch HGNC:207 Unspecified ADAM29 +OMIM:604778 skos:exactMatch UMLS:C1412198 Unspecified ADAM29 +OMIM:602115 skos:exactMatch UMLS:C1333535 Unspecified FGF10 +OMIM:602115 skos:exactMatch HGNC_symbol:FGF10 Unspecified FGF10 +OMIM:602115 skos:exactMatch HGNC:3666 Unspecified FGF10 +OMIM:604777 skos:exactMatch UMLS:C1858133 Unspecified ichthyosis, congenital, autosomal recessive 5 +OMIM:602116 skos:exactMatch UMLS:C1333660 Unspecified YEATS4 +OMIM:602116 skos:exactMatch HGNC:24859 Unspecified YEATS4 +OMIM:602116 skos:exactMatch HGNC_symbol:YEATS4 Unspecified YEATS4 +OMIM:602117 skos:exactMatch HGNC_symbol:NDN Unspecified NDN +OMIM:602117 skos:exactMatch HGNC:7675 Unspecified NDN +OMIM:602117 skos:exactMatch UMLS:C1417614 Unspecified NDN +OMIM:300311 skos:exactMatch HGNC:11733 Unspecified TEX11 +OMIM:300311 skos:exactMatch HGNC_symbol:TEX11 Unspecified TEX11 +OMIM:300311 skos:exactMatch UMLS:C1420690 Unspecified TEX11 +OMIM:300310 skos:exactMatch UMLS:C1845903 Unspecified immunodeficiency 61 +OMIM:602118 skos:exactMatch HGNC_symbol:CHD1 Unspecified CHD1 +OMIM:602118 skos:exactMatch UMLS:C1413379 Unspecified CHD1 +OMIM:602118 skos:exactMatch HGNC:1915 Unspecified CHD1 +OMIM:604779 skos:exactMatch HGNC_symbol:ADAM30 Unspecified ADAM30 +OMIM:604779 skos:exactMatch HGNC:208 Unspecified ADAM30 +OMIM:604779 skos:exactMatch UMLS:C1412199 Unspecified ADAM30 +OMIM:602119 skos:exactMatch HGNC_symbol:CHD2 Unspecified CHD2 +OMIM:602119 skos:exactMatch UMLS:C1413381 Unspecified CHD2 +OMIM:602119 skos:exactMatch HGNC:1917 Unspecified CHD2 +OMIM:300313 skos:exactMatch HGNC_symbol:TEX13B Unspecified TEX13B +OMIM:300313 skos:exactMatch HGNC:11736 Unspecified TEX13B +OMIM:300313 skos:exactMatch UMLS:C1420693 Unspecified TEX13B +OMIM:300312 skos:exactMatch HGNC_symbol:TEX13A Unspecified TEX13A +OMIM:300312 skos:exactMatch HGNC:11735 Unspecified TEX13A +OMIM:300312 skos:exactMatch UMLS:C1420692 Unspecified TEX13A +OMIM:300315 skos:exactMatch UMLS:C1417899 Unspecified NXF2 +OMIM:300315 skos:exactMatch HGNC:8072 Unspecified NXF2 +OMIM:300315 skos:exactMatch HGNC_symbol:NXF2 Unspecified NXF2 +OMIM:300314 skos:exactMatch HGNC:11548 Unspecified TAF7L +OMIM:300314 skos:exactMatch HGNC_symbol:TAF7L Unspecified TAF7L +OMIM:300314 skos:exactMatch UMLS:C1420574 Unspecified TAF7L +OMIM:300317 skos:exactMatch UMLS:C1419343 Unspecified REPS2 +OMIM:300317 skos:exactMatch HGNC_symbol:REPS2 Unspecified REPS2 +OMIM:300317 skos:exactMatch HGNC:9963 Unspecified REPS2 +OMIM:616760 skos:exactMatch UMLS:C4225214 Unspecified woolly hair, autosomal recessive 3 +OMIM:300316 skos:exactMatch UMLS:C1417900 Unspecified NXF3 +OMIM:300316 skos:exactMatch HGNC:8073 Unspecified NXF3 +OMIM:300316 skos:exactMatch HGNC_symbol:NXF3 Unspecified NXF3 +OMIM:300319 skos:exactMatch HGNC_symbol:NXF5 Unspecified NXF5 +OMIM:300319 skos:exactMatch UMLS:C1417902 Unspecified NXF5 +OMIM:300319 skos:exactMatch HGNC:8075 Unspecified NXF5 +OMIM:616761 skos:exactMatch HGNC:19956 Unspecified SUSD6 +OMIM:616761 skos:exactMatch UMLS:C3889187 Unspecified SUSD6 +OMIM:616761 skos:exactMatch HGNC_symbol:SUSD6 Unspecified SUSD6 +OMIM:616762 skos:exactMatch HGNC_symbol:CCSAP Unspecified CCSAP +OMIM:616762 skos:exactMatch HGNC:29578 Unspecified CCSAP +OMIM:616762 skos:exactMatch UMLS:C1823716 Unspecified CCSAP +OMIM:300318 skos:exactMatch HGNC_symbol:NXF4 Unspecified NXF4 +OMIM:300318 skos:exactMatch UMLS:C1417901 Unspecified NXF4 +OMIM:300318 skos:exactMatch HGNC:8074 Unspecified NXF4 +OMIM:616763 skos:exactMatch UMLS:C4225213 Unspecified leukodystrophy and acquired microcephaly with or without dystonia +OMIM:616764 skos:exactMatch UMLS:C2239935 Unspecified SLC46A3 +OMIM:616764 skos:exactMatch HGNC:27501 Unspecified SLC46A3 +OMIM:616764 skos:exactMatch HGNC_symbol:SLC46A3 Unspecified SLC46A3 +OMIM:616754 skos:exactMatch UMLS:C4749062 Unspecified bombay phenotype +OMIM:616754 skos:exactMatch UMLS:C4225430 Unspecified bombay phenotype +OMIM:616754 skos:exactMatch UMLS:C1859411 Unspecified bombay phenotype +OMIM:616754 skos:exactMatch UMLS:C1859408 Unspecified bombay phenotype +OMIM:614102 skos:exactMatch UMLS:C3279824 Unspecified immunoglobulin kappa light chain deficiency +OMIM:614101 skos:exactMatch UMLS:C2675436 Unspecified plasma fibronectin deficiency +OMIM:616755 skos:exactMatch HGNC:25574 Unspecified TRIM62 +OMIM:616755 skos:exactMatch UMLS:C1540066 Unspecified TRIM62 +OMIM:616755 skos:exactMatch HGNC_symbol:TRIM62 Unspecified TRIM62 +OMIM:616756 skos:exactMatch UMLS:C4225215 Unspecified spastic paraplegia and psychomotor retardation with or without seizures +OMIM:614100 skos:exactMatch UMLS:C0432335 Unspecified cutis laxa, neonatal, with marfanoid phenotype +OMIM:616757 skos:exactMatch HGNC:24677 Unspecified TMEM150A +OMIM:616757 skos:exactMatch HGNC_symbol:TMEM150A Unspecified TMEM150A +OMIM:616757 skos:exactMatch UMLS:C1823415 Unspecified TMEM150A +OMIM:616758 skos:exactMatch HGNC:26624 Unspecified KDF1 +OMIM:616758 skos:exactMatch HGNC_symbol:KDF1 Unspecified KDF1 +OMIM:616758 skos:exactMatch UMLS:C1823786 Unspecified KDF1 +OMIM:616759 skos:exactMatch HGNC_symbol:NOSIP Unspecified NOSIP +OMIM:616759 skos:exactMatch HGNC:17946 Unspecified NOSIP +OMIM:616759 skos:exactMatch UMLS:C1425195 Unspecified NOSIP +OMIM:253590 skos:exactMatch UMLS:C1854646 Unspecified muscular dystrophy, adult-onset, with leukoencephalopathy +OMIM:604780 skos:exactMatch HGNC:21396 Unspecified ABHD5 +OMIM:604780 skos:exactMatch HGNC_symbol:ABHD5 Unspecified ABHD5 +OMIM:604780 skos:exactMatch UMLS:C1427541 Unspecified ABHD5 +OMIM:604780 skos:exactMatch UMLS:C0268238 Unspecified ABHD5 +OMIM:604783 skos:exactMatch HGNC:2087 Unspecified CLPTM1 +OMIM:604783 skos:exactMatch HGNC_symbol:CLPTM1 Unspecified CLPTM1 +OMIM:604783 skos:exactMatch UMLS:C1413507 Unspecified CLPTM1 +OMIM:602120 skos:exactMatch HGNC_symbol:CHD3 Unspecified CHD3 +OMIM:602120 skos:exactMatch UMLS:C1413382 Unspecified CHD3 +OMIM:602120 skos:exactMatch HGNC:1918 Unspecified CHD3 +OMIM:602121 skos:exactMatch UMLS:C4479674 Unspecified DIAPH1 +OMIM:602121 skos:exactMatch UMLS:C4225261 Unspecified DIAPH1 +OMIM:602121 skos:exactMatch UMLS:C1414047 Unspecified DIAPH1 +OMIM:602121 skos:exactMatch HGNC:2876 Unspecified DIAPH1 +OMIM:602121 skos:exactMatch UMLS:C1852282 Unspecified DIAPH1 +OMIM:602121 skos:exactMatch HGNC_symbol:DIAPH1 Unspecified DIAPH1 +OMIM:604782 skos:exactMatch HGNC_symbol:ASH2L Unspecified ASH2L +OMIM:604782 skos:exactMatch HGNC:744 Unspecified ASH2L +OMIM:604782 skos:exactMatch UMLS:C1412580 Unspecified ASH2L +OMIM:602122 skos:exactMatch HGNC:11303 Unspecified SRP72 +OMIM:602122 skos:exactMatch HGNC_symbol:SRP72 Unspecified SRP72 +OMIM:602122 skos:exactMatch UMLS:C1420410 Unspecified SRP72 +OMIM:604785 skos:exactMatch HGNC:2512 Unspecified CTNNAL1 +OMIM:604785 skos:exactMatch HGNC_symbol:CTNNAL1 Unspecified CTNNAL1 +OMIM:604785 skos:exactMatch UMLS:C1413798 Unspecified CTNNAL1 +OMIM:604784 skos:exactMatch HGNC:11614 Unspecified TCEA2 +OMIM:604784 skos:exactMatch UMLS:C1420624 Unspecified TCEA2 +OMIM:604784 skos:exactMatch HGNC_symbol:TCEA2 Unspecified TCEA2 +OMIM:602123 skos:exactMatch UMLS:C5193190 Unspecified CAMK2G +OMIM:602123 skos:exactMatch HGNC_symbol:CAMK2G Unspecified CAMK2G +OMIM:602123 skos:exactMatch UMLS:C2986382 Unspecified CAMK2G +OMIM:602123 skos:exactMatch HGNC:1463 Unspecified CAMK2G +OMIM:602123 skos:exactMatch UMLS:C1413102 Unspecified CAMK2G +OMIM:604765 skos:exactMatch ORPHA:154 Unspecified cardiomyopathy, dilated, 1i +OMIM:604765 skos:exactMatch UMLS:C1858154 Unspecified cardiomyopathy, dilated, 1i +OMIM:602102 skos:exactMatch HGNC:11469 Unspecified SUPT5H +OMIM:602102 skos:exactMatch UMLS:C0812268 Unspecified SUPT5H +OMIM:602102 skos:exactMatch HGNC_symbol:SUPT5H Unspecified SUPT5H +OMIM:604764 skos:exactMatch HGNC_symbol:ZHX1 Unspecified ZHX1 +OMIM:604764 skos:exactMatch HGNC:12871 Unspecified ZHX1 +OMIM:604764 skos:exactMatch UMLS:C1421580 Unspecified ZHX1 +OMIM:602103 skos:exactMatch HGNC:11868 Unspecified TRAPPC10 +OMIM:602103 skos:exactMatch UMLS:C1420776 Unspecified TRAPPC10 +OMIM:602103 skos:exactMatch HGNC_symbol:TRAPPC10 Unspecified TRAPPC10 +OMIM:602104 skos:exactMatch UMLS:C1420022 Unspecified SH3BP2 +OMIM:602104 skos:exactMatch HGNC:10825 Unspecified SH3BP2 +OMIM:602104 skos:exactMatch HGNC_symbol:SH3BP2 Unspecified SH3BP2 +OMIM:131170 skos:exactMatch HGNC:3454 Unspecified ERV3 +OMIM:131170 skos:exactMatch HGNC_symbol:ERV3-1 Unspecified ERV3 +OMIM:131170 skos:exactMatch UMLS:C1414448 Unspecified ERV3 +OMIM:300320 skos:exactMatch HGNC:18151 Unspecified NXT2 +OMIM:300320 skos:exactMatch UMLS:C1425347 Unspecified NXT2 +OMIM:300320 skos:exactMatch HGNC_symbol:NXT2 Unspecified NXT2 +OMIM:604767 skos:exactMatch HGNC_symbol:DELEC1 Unspecified DEC1 +OMIM:604767 skos:exactMatch UMLS:C1333212 Unspecified DEC1 +OMIM:604767 skos:exactMatch HGNC:23658 Unspecified DEC1 +OMIM:604766 skos:exactMatch HGNC:13394 Unspecified NPHS2 +OMIM:604766 skos:exactMatch UMLS:C1421972 Unspecified NPHS2 +OMIM:604766 skos:exactMatch HGNC_symbol:NPHS2 Unspecified NPHS2 +OMIM:602105 skos:exactMatch HGNC_symbol:MSH4 Unspecified MSH4 +OMIM:602105 skos:exactMatch HGNC:7327 Unspecified MSH4 +OMIM:602105 skos:exactMatch UMLS:C1334532 Unspecified MSH4 +OMIM:155120 skos:exactMatch HGNC:189 Unspecified ADAM11 +OMIM:155120 skos:exactMatch UMLS:C1332015 Unspecified ADAM11 +OMIM:155120 skos:exactMatch HGNC_symbol:ADAM11 Unspecified ADAM11 +OMIM:300322 skos:exactMatch ORPHA:510 Unspecified lesch-nyhan syndrome +OMIM:300322 skos:exactMatch UMLS:C0023374 Unspecified lesch-nyhan syndrome +OMIM:602106 skos:exactMatch HGNC_symbol:KCNJ15 Unspecified KCNJ15 +OMIM:602106 skos:exactMatch HGNC:6261 Unspecified KCNJ15 +OMIM:602106 skos:exactMatch UMLS:C1416582 Unspecified KCNJ15 +OMIM:604769 skos:exactMatch HGNC_symbol:PRDX3 Unspecified PRDX3 +OMIM:604769 skos:exactMatch UMLS:C1418881 Unspecified PRDX3 +OMIM:604769 skos:exactMatch HGNC:9354 Unspecified PRDX3 +OMIM:604768 skos:exactMatch HGNC:13047 Unspecified ZNF254 +OMIM:604768 skos:exactMatch UMLS:C1421742 Unspecified ZNF254 +OMIM:604768 skos:exactMatch HGNC_symbol:ZNF254 Unspecified ZNF254 +OMIM:300321 skos:exactMatch UMLS:C1845902 Unspecified fg syndrome 2 +OMIM:180100 skos:exactMatch UMLS:C0220701 Unspecified retinitis pigmentosa 1 +OMIM:602107 skos:exactMatch UMLS:C1865856 Unspecified neuropathy, hereditary thermosensitive +OMIM:300324 skos:exactMatch UMLS:C1845889 Unspecified intellectual developmental disorder, X-linked 53 +OMIM:602108 skos:exactMatch HGNC:6908 Unspecified MATN2 +OMIM:602108 skos:exactMatch UMLS:C1417042 Unspecified MATN2 +OMIM:602108 skos:exactMatch HGNC_symbol:MATN2 Unspecified MATN2 +OMIM:300323 skos:exactMatch ORPHA:79233 Unspecified hyperuricemia, hprt-related +OMIM:300323 skos:exactMatch UMLS:C0268117 Unspecified hyperuricemia, hprt-related +OMIM:602109 skos:exactMatch UMLS:C1846843 Unspecified MATN3 +OMIM:602109 skos:exactMatch HGNC:6909 Unspecified MATN3 +OMIM:602109 skos:exactMatch UMLS:C3887526 Unspecified MATN3 +OMIM:602109 skos:exactMatch UMLS:C1417043 Unspecified MATN3 +OMIM:602109 skos:exactMatch UMLS:C1837481 Unspecified MATN3 +OMIM:602109 skos:exactMatch HGNC_symbol:MATN3 Unspecified MATN3 +OMIM:300326 skos:exactMatch HGNC:11338 Unspecified SSX4 +OMIM:300326 skos:exactMatch HGNC_symbol:SSX4 Unspecified SSX4 +OMIM:300326 skos:exactMatch UMLS:C1420437 Unspecified SSX4 +OMIM:300325 skos:exactMatch HGNC_symbol:SSX3 Unspecified SSX3 +OMIM:300325 skos:exactMatch HGNC:11337 Unspecified SSX3 +OMIM:300325 skos:exactMatch UMLS:C1420436 Unspecified SSX3 +OMIM:300328 skos:exactMatch HGNC:6241 Unspecified KCNE1L +OMIM:300328 skos:exactMatch UMLS:C1416564 Unspecified KCNE1L +OMIM:300328 skos:exactMatch HGNC_symbol:KCNE5 Unspecified KCNE1L +OMIM:167100 skos:exactMatch UMLS:C2674695 Unspecified hypertrophic osteoarthropathy, primary, autosomal dominant +OMIM:300327 skos:exactMatch HGNC_symbol:SSX5 Unspecified SSX5 +OMIM:300327 skos:exactMatch HGNC:11339 Unspecified SSX5 +OMIM:300327 skos:exactMatch UMLS:C1420438 Unspecified SSX5 +OMIM:616750 skos:exactMatch UMLS:C1427091 Unspecified ZDHHC16 +OMIM:616750 skos:exactMatch HGNC:20714 Unspecified ZDHHC16 +OMIM:616750 skos:exactMatch HGNC_symbol:ZDHHC16 Unspecified ZDHHC16 +OMIM:616751 skos:exactMatch HGNC:24289 Unspecified CEPT1 +OMIM:616751 skos:exactMatch UMLS:C1538438 Unspecified CEPT1 +OMIM:616751 skos:exactMatch HGNC_symbol:CEPT1 Unspecified CEPT1 +OMIM:300329 skos:exactMatch UMLS:C1538153 Unspecified ZBTB33 +OMIM:300329 skos:exactMatch HGNC_symbol:ZBTB33 Unspecified ZBTB33 +OMIM:300329 skos:exactMatch HGNC:16682 Unspecified ZBTB33 +OMIM:616752 skos:exactMatch UMLS:C4225216 Unspecified None +OMIM:616752 skos:exactMatch HGNC:24955 Unspecified None +OMIM:616752 skos:exactMatch HGNC_symbol:NSG2 Unspecified None +OMIM:616753 skos:exactMatch HGNC:19745 Unspecified ENTPD7 +OMIM:616753 skos:exactMatch HGNC_symbol:ENTPD7 Unspecified ENTPD7 +OMIM:616753 skos:exactMatch UMLS:C1426381 Unspecified ENTPD7 +OMIM:616743 skos:exactMatch HGNC_symbol:RGL3 Unspecified RGL3 +OMIM:616743 skos:exactMatch UMLS:C1428955 Unspecified RGL3 +OMIM:616743 skos:exactMatch HGNC:30282 Unspecified RGL3 +OMIM:616744 skos:exactMatch UMLS:C4225218 Unspecified autoinflammatory syndrome, familial, behcet-like 1 +OMIM:616745 skos:exactMatch UMLS:C2681184 Unspecified BOD1 +OMIM:616745 skos:exactMatch HGNC:25114 Unspecified BOD1 +OMIM:616745 skos:exactMatch HGNC_symbol:BOD1 Unspecified BOD1 +OMIM:616746 skos:exactMatch HGNC:31792 Unspecified BOD1L1 +OMIM:616746 skos:exactMatch HGNC_symbol:BOD1L1 Unspecified BOD1L1 +OMIM:616746 skos:exactMatch UMLS:C3469643 Unspecified BOD1L1 +OMIM:616747 skos:exactMatch HGNC:17852 Unspecified CHPT1 +OMIM:616747 skos:exactMatch HGNC_symbol:CHPT1 Unspecified CHPT1 +OMIM:616747 skos:exactMatch UMLS:C1425131 Unspecified CHPT1 +OMIM:312300 skos:exactMatch UMLS:C0268301 Unspecified androgen insensitivity, partial +OMIM:616748 skos:exactMatch HGNC:24860 Unspecified ENTPD8 +OMIM:616748 skos:exactMatch UMLS:C1825054 Unspecified ENTPD8 +OMIM:616748 skos:exactMatch HGNC_symbol:ENTPD8 Unspecified ENTPD8 +OMIM:616749 skos:exactMatch UMLS:C4225217 Unspecified heterotaxy, visceral, 7, autosomal +OMIM:180104 skos:exactMatch UMLS:C1867300 Unspecified retinitis pigmentosa 9 +OMIM:604770 skos:exactMatch HGNC_symbol:ACAA2 Unspecified ACAA2 +OMIM:604770 skos:exactMatch HGNC:83 Unspecified ACAA2 +OMIM:604770 skos:exactMatch UMLS:C1412103 Unspecified ACAA2 +OMIM:180105 skos:exactMatch UMLS:C1867299 Unspecified retinitis pigmentosa 10 +OMIM:604772 skos:exactMatch UMLS:C1631597 Unspecified ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy +OMIM:604772 skos:exactMatch ORPHA:3286 Unspecified ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy +OMIM:602110 skos:exactMatch HGNC:11004 Unspecified SLC29A2 +OMIM:602110 skos:exactMatch HGNC_symbol:SLC29A2 Unspecified SLC29A2 +OMIM:602110 skos:exactMatch UMLS:C1442749 Unspecified SLC29A2 +OMIM:604771 skos:exactMatch UMLS:C1858143 Unspecified polycystic bone disease +OMIM:131180 skos:exactMatch UMLS:C1414446 Unspecified ERPL2 +OMIM:604774 skos:exactMatch HGNC_symbol:ANGPTL3 Unspecified ANGPTL3 +OMIM:604774 skos:exactMatch HGNC:491 Unspecified ANGPTL3 +OMIM:604774 skos:exactMatch UMLS:C1412401 Unspecified ANGPTL3 +OMIM:602111 skos:exactMatch ORPHA:1040 Unspecified spondyloepimetaphyseal dysplasia, missouri iia +OMIM:602111 skos:exactMatch UMLS:C2748495 Unspecified spondyloepimetaphyseal dysplasia, missouri iia +OMIM:602111 skos:exactMatch UMLS:C1865832 Unspecified spondyloepimetaphyseal dysplasia, missouri iia +OMIM:602111 skos:exactMatch ORPHA:93356 Unspecified spondyloepimetaphyseal dysplasia, missouri iia +OMIM:604773 skos:exactMatch HGNC_symbol:ACAD8 Unspecified ACAD8 +OMIM:604773 skos:exactMatch HGNC:87 Unspecified ACAD8 +OMIM:604773 skos:exactMatch UMLS:C1412106 Unspecified ACAD8 +OMIM:602112 skos:exactMatch UMLS:C1826275 Unspecified MPPED1 +OMIM:602112 skos:exactMatch HGNC_symbol:MPPED1 Unspecified MPPED1 +OMIM:602112 skos:exactMatch HGNC:1306 Unspecified MPPED1 +OMIM:604754 skos:exactMatch HGNC:13065 Unspecified zinc finger protein 271, pseudogene +OMIM:604754 skos:exactMatch HGNC_symbol:ZNF271P Unspecified zinc finger protein 271, pseudogene +OMIM:604754 skos:exactMatch UMLS:C1421757 Unspecified zinc finger protein 271, pseudogene +OMIM:155150 skos:exactMatch UMLS:C1835086 Unspecified median-ulnar nerve communications +OMIM:604753 skos:exactMatch HGNC_symbol:ZNF268 Unspecified ZNF268 +OMIM:604753 skos:exactMatch UMLS:C1421755 Unspecified ZNF268 +OMIM:604753 skos:exactMatch HGNC:13061 Unspecified ZNF268 +OMIM:604756 skos:exactMatch HGNC:13067 Unspecified ZNF273 +OMIM:604756 skos:exactMatch UMLS:C1421759 Unspecified ZNF273 +OMIM:604756 skos:exactMatch HGNC_symbol:ZNF273 Unspecified ZNF273 +OMIM:604755 skos:exactMatch HGNC_symbol:ZNF460 Unspecified ZNF272 +OMIM:604755 skos:exactMatch HGNC:21628 Unspecified ZNF272 +OMIM:604755 skos:exactMatch UMLS:C1823977 Unspecified ZNF272 +OMIM:604758 skos:exactMatch HGNC:9956 Unspecified RELB +OMIM:604758 skos:exactMatch HGNC_symbol:RELB Unspecified RELB +OMIM:604758 skos:exactMatch UMLS:C1419336 Unspecified RELB +OMIM:604757 skos:exactMatch UMLS:C1858160 Unspecified craniosynostosis 2 +OMIM:302950 skos:exactMatch UMLS:C1844853 Unspecified chondrodysplasia punctata 1, X-linked recessive +OMIM:604759 skos:exactMatch UMLS:C1425334 Unspecified SYCP3 +OMIM:604759 skos:exactMatch HGNC_symbol:SYCP3 Unspecified SYCP3 +OMIM:604759 skos:exactMatch HGNC:18130 Unspecified SYCP3 +OMIM:616740 skos:exactMatch UMLS:C4225219 Unspecified immunodeficiency 46 +OMIM:616741 skos:exactMatch HGNC:13998 Unspecified PRDM13 +OMIM:616741 skos:exactMatch UMLS:C1422335 Unspecified PRDM13 +OMIM:616741 skos:exactMatch HGNC_symbol:PRDM13 Unspecified PRDM13 +OMIM:143170 skos:exactMatch UMLS:C1825957 Unspecified MEA1 +OMIM:143170 skos:exactMatch HGNC:6986 Unspecified MEA1 +OMIM:143170 skos:exactMatch HGNC_symbol:MEA1 Unspecified MEA1 +OMIM:616742 skos:exactMatch HGNC_symbol:NOP58 Unspecified NOP58 +OMIM:616742 skos:exactMatch HGNC:29926 Unspecified NOP58 +OMIM:616742 skos:exactMatch UMLS:C2678522 Unspecified NOP58 +OMIM:616732 skos:exactMatch UMLS:C4225227 Unspecified optic atrophy 10 with or without ataxia, mental retardation, and seizures +OMIM:616733 skos:exactMatch UMLS:C4225226 Unspecified coenzyme Q10 deficiency, primary, 8 +OMIM:616734 skos:exactMatch UMLS:C4225225 Unspecified skin creases, congenital symmetric circumferential, 2 +OMIM:616735 skos:exactMatch UMLS:C4225224 Unspecified None +OMIM:616735 skos:exactMatch HGNC:28033 Unspecified None +OMIM:616735 skos:exactMatch HGNC_symbol:CCDC174 Unspecified None +OMIM:616736 skos:exactMatch UMLS:C4225223 Unspecified tremor, hereditary essential, 5 +OMIM:616737 skos:exactMatch ORPHA:487796 Unspecified takenouchi-kosaki syndrome +OMIM:616737 skos:exactMatch UMLS:C4225222 Unspecified takenouchi-kosaki syndrome +OMIM:616738 skos:exactMatch UMLS:C4225221 Unspecified radioulnar synostosis with amegakaryocytic thrombocytopenia 2 +OMIM:616739 skos:exactMatch UMLS:C4225220 Unspecified intellectual developmental disorder, autosomal recessive 51 +OMIM:604761 skos:exactMatch HGNC_symbol:ZFAND5 Unspecified ZFAND5 +OMIM:604761 skos:exactMatch UMLS:C1823944 Unspecified ZFAND5 +OMIM:604761 skos:exactMatch HGNC:13008 Unspecified ZFAND5 +OMIM:131190 skos:exactMatch UMLS:C1414445 Unspecified endogenous retroviral pol-like sequence-1 +OMIM:604760 skos:exactMatch UMLS:C1421723 Unspecified ZNF236 +OMIM:604760 skos:exactMatch HGNC_symbol:ZNF236 Unspecified ZNF236 +OMIM:604760 skos:exactMatch HGNC:13028 Unspecified ZNF236 +OMIM:604763 skos:exactMatch HGNC_symbol:ARHGEF12 Unspecified ARHGEF12 +OMIM:604763 skos:exactMatch UMLS:C1422475 Unspecified ARHGEF12 +OMIM:604763 skos:exactMatch HGNC:14193 Unspecified ARHGEF12 +OMIM:604763 skos:exactMatch UMLS:C1858155 Unspecified ARHGEF12 +OMIM:602100 skos:exactMatch UMLS:C1418611 Unspecified PKNOX1 +OMIM:602100 skos:exactMatch HGNC_symbol:PKNOX1 Unspecified PKNOX1 +OMIM:602100 skos:exactMatch HGNC:9022 Unspecified PKNOX1 +OMIM:602101 skos:exactMatch HGNC:2047 Unspecified CLDN5 +OMIM:602101 skos:exactMatch UMLS:C1413475 Unspecified CLDN5 +OMIM:602101 skos:exactMatch HGNC_symbol:CLDN5 Unspecified CLDN5 +OMIM:604762 skos:exactMatch HGNC:17070 Unspecified None +OMIM:604762 skos:exactMatch HGNC_symbol:SWAP70 Unspecified None +OMIM:604762 skos:exactMatch UMLS:C1858156 Unspecified None +OMIM:604743 skos:exactMatch UMLS:C1413939 Unspecified DDAH1 +OMIM:604743 skos:exactMatch HGNC_symbol:DDAH1 Unspecified DDAH1 +OMIM:604743 skos:exactMatch HGNC:2715 Unspecified DDAH1 +OMIM:131195 skos:exactMatch UMLS:C1366583 Unspecified ENG +OMIM:131195 skos:exactMatch HGNC_symbol:ENG Unspecified ENG +OMIM:131195 skos:exactMatch HGNC:3349 Unspecified ENG +OMIM:302960 skos:exactMatch UMLS:C0282102 Unspecified chondrodysplasia punctata 2, X-linked dominant +OMIM:604742 skos:exactMatch UMLS:C1413927 Unspecified DCLK1 +OMIM:604742 skos:exactMatch HGNC_symbol:DCLK1 Unspecified DCLK1 +OMIM:604742 skos:exactMatch HGNC:2700 Unspecified DCLK1 +OMIM:155140 skos:exactMatch UMLS:C0025037 Unspecified meckel diverticulum +OMIM:604745 skos:exactMatch HGNC_symbol:TCFL5 Unspecified TCFL5 +OMIM:604745 skos:exactMatch HGNC:11646 Unspecified TCFL5 +OMIM:604745 skos:exactMatch UMLS:C1420648 Unspecified TCFL5 +OMIM:604744 skos:exactMatch UMLS:C1413940 Unspecified DDAH2 +OMIM:604744 skos:exactMatch HGNC_symbol:DDAH2 Unspecified DDAH2 +OMIM:604744 skos:exactMatch HGNC:2716 Unspecified DDAH2 +OMIM:300300 skos:exactMatch UMLS:C1412841 Unspecified BTK +OMIM:300300 skos:exactMatch HGNC_symbol:BTK Unspecified BTK +OMIM:300300 skos:exactMatch HGNC:1133 Unspecified BTK +OMIM:604747 skos:exactMatch HGNC_symbol:SOX14 Unspecified SOX14 +OMIM:604747 skos:exactMatch HGNC:11193 Unspecified SOX14 +OMIM:604747 skos:exactMatch UMLS:C1420320 Unspecified SOX14 +OMIM:604746 skos:exactMatch HGNC_symbol:TESK2 Unspecified TESK2 +OMIM:604746 skos:exactMatch HGNC:11732 Unspecified TESK2 +OMIM:604746 skos:exactMatch UMLS:C1420689 Unspecified TESK2 +OMIM:155145 skos:exactMatch UMLS:C1835087 Unspecified cleft, median, of upper 51p with polyps of facial skin and nasal mucosa +OMIM:604749 skos:exactMatch HGNC:12866 Unspecified ZNF235 +OMIM:604749 skos:exactMatch UMLS:C1421575 Unspecified ZNF235 +OMIM:604749 skos:exactMatch HGNC_symbol:ZNF235 Unspecified ZNF235 +OMIM:300302 skos:exactMatch HGNC_symbol:DYNLT3 Unspecified DYNLT3 +OMIM:300302 skos:exactMatch UMLS:C1825019 Unspecified DYNLT3 +OMIM:300302 skos:exactMatch HGNC:11694 Unspecified DYNLT3 +OMIM:604748 skos:exactMatch HGNC_symbol:SOX13 Unspecified SOX13 +OMIM:604748 skos:exactMatch HGNC:11192 Unspecified SOX13 +OMIM:604748 skos:exactMatch UMLS:C1420319 Unspecified SOX13 +OMIM:300304 skos:exactMatch UMLS:C1413826 Unspecified CUL4B +OMIM:300304 skos:exactMatch HGNC_symbol:CUL4B Unspecified CUL4B +OMIM:300304 skos:exactMatch HGNC:2555 Unspecified CUL4B +OMIM:300303 skos:exactMatch UMLS:C1419747 Unspecified RPS6KA6 +OMIM:300303 skos:exactMatch HGNC:10435 Unspecified RPS6KA6 +OMIM:300303 skos:exactMatch HGNC_symbol:RPS6KA6 Unspecified RPS6KA6 +OMIM:300306 skos:exactMatch UMLS:C2678155 Unspecified body mass index quantitative trait locus 11 +OMIM:300305 skos:exactMatch HGNC:11218 Unspecified SPANXA1 +OMIM:300305 skos:exactMatch UMLS:C1420341 Unspecified SPANXA1 +OMIM:300305 skos:exactMatch HGNC_symbol:SPANXA1 Unspecified SPANXA1 +OMIM:300308 skos:exactMatch UMLS:C1414843 Unspecified FTHL17 +OMIM:300308 skos:exactMatch HGNC_symbol:FTHL17 Unspecified FTHL17 +OMIM:300308 skos:exactMatch HGNC:3987 Unspecified FTHL17 +OMIM:300307 skos:exactMatch UMLS:C1844830 Unspecified TBX22 +OMIM:300307 skos:exactMatch UMLS:C1844831 Unspecified TBX22 +OMIM:300307 skos:exactMatch UMLS:C1844862 Unspecified TBX22 +OMIM:300307 skos:exactMatch HGNC:11600 Unspecified TBX22 +OMIM:300307 skos:exactMatch UMLS:C1420611 Unspecified TBX22 +OMIM:300307 skos:exactMatch HGNC_symbol:TBX22 Unspecified TBX22 +OMIM:616730 skos:exactMatch UMLS:C4225228 Unspecified nephrotic syndrome, iia 11 +OMIM:300309 skos:exactMatch HGNC_symbol:USP26 Unspecified USP26 +OMIM:300309 skos:exactMatch HGNC:13485 Unspecified USP26 +OMIM:300309 skos:exactMatch UMLS:C1422015 Unspecified USP26 +OMIM:616731 skos:exactMatch HGNC:7748 Unspecified NEK5 +OMIM:616731 skos:exactMatch UMLS:C1417674 Unspecified NEK5 +OMIM:616731 skos:exactMatch HGNC_symbol:NEK5 Unspecified NEK5 +OMIM:616721 skos:exactMatch UMLS:C4225234 Unspecified congenital disorder of glycosylation, iia iin +OMIM:616722 skos:exactMatch UMLS:C4225233 Unspecified retinal dystrophy and iris coloboma with or without congenital cataract +OMIM:616723 skos:exactMatch UMLS:C4225232 Unspecified spondyloepimetaphyseal dysplasia, faden-alkuraya iia +OMIM:616724 skos:exactMatch UMLS:C4225231 Unspecified tooth agenesis, selective, 7 +OMIM:616725 skos:exactMatch HGNC_symbol:DDX60L Unspecified DDX60L +OMIM:616725 skos:exactMatch HGNC:26429 Unspecified DDX60L +OMIM:616725 skos:exactMatch UMLS:C2239343 Unspecified DDX60L +OMIM:616726 skos:exactMatch UMLS:C4225230 Unspecified ciliary dyskinesia, primary, 33 +OMIM:616727 skos:exactMatch HGNC_symbol:PHF21B Unspecified PHF21B +OMIM:616727 skos:exactMatch HGNC:25161 Unspecified PHF21B +OMIM:616727 skos:exactMatch UMLS:C1538636 Unspecified PHF21B +OMIM:616728 skos:exactMatch UMLS:C4225229 Unspecified cleft palate, psychomotor retardation, and distinctive facial features +OMIM:616728 skos:exactMatch ORPHA:477993 Unspecified cleft palate, psychomotor retardation, and distinctive facial features +OMIM:616729 skos:exactMatch HGNC:15021 Unspecified OR2W3 +OMIM:616729 skos:exactMatch UMLS:C1423142 Unspecified OR2W3 +OMIM:616729 skos:exactMatch HGNC_symbol:OR2W3 Unspecified OR2W3 +OMIM:604750 skos:exactMatch UMLS:C1421722 Unspecified ZNF234 +OMIM:604750 skos:exactMatch HGNC_symbol:ZNF234 Unspecified ZNF234 +OMIM:604750 skos:exactMatch HGNC:13027 Unspecified ZNF234 +OMIM:604752 skos:exactMatch UMLS:C1421754 Unspecified ZNF267 +OMIM:604752 skos:exactMatch HGNC_symbol:ZNF267 Unspecified ZNF267 +OMIM:604752 skos:exactMatch HGNC:13060 Unspecified ZNF267 +OMIM:108800 skos:exactMatch UMLS:C1862393 Unspecified atrial septal defect 1 +OMIM:108800 skos:exactMatch UMLS:C1862391 Unspecified atrial septal defect 1 +OMIM:108800 skos:exactMatch UMLS:C1862392 Unspecified atrial septal defect 1 +OMIM:108800 skos:exactMatch UMLS:C1862389 Unspecified atrial septal defect 1 +OMIM:108800 skos:exactMatch UMLS:C0344735 Unspecified atrial septal defect 1 +OMIM:604751 skos:exactMatch HGNC_symbol:ZNF266 Unspecified ZNF266 +OMIM:604751 skos:exactMatch UMLS:C1421753 Unspecified ZNF266 +OMIM:604751 skos:exactMatch HGNC:13059 Unspecified ZNF266 +OMIM:300351 skos:exactMatch UMLS:C2678151 Unspecified graves disease, susceptibility to, X-linked 1 +OMIM:300351 skos:exactMatch UMLS:C2678152 Unspecified graves disease, susceptibility to, X-linked 1 +OMIM:602157 skos:exactMatch UMLS:C1334890 Unspecified NOVA1 +OMIM:602157 skos:exactMatch HGNC:7886 Unspecified NOVA1 +OMIM:602157 skos:exactMatch HGNC_symbol:NOVA1 Unspecified NOVA1 +OMIM:602158 skos:exactMatch HGNC:2080 Unspecified CLNS1A +OMIM:602158 skos:exactMatch UMLS:C1413501 Unspecified CLNS1A +OMIM:602158 skos:exactMatch HGNC_symbol:CLNS1A Unspecified CLNS1A +OMIM:182790 skos:exactMatch HGNC_symbol:SPTBN1 Unspecified SPTBN1 +OMIM:182790 skos:exactMatch HGNC:11275 Unspecified SPTBN1 +OMIM:182790 skos:exactMatch UMLS:C1420388 Unspecified SPTBN1 +OMIM:300350 skos:exactMatch UMLS:C1428903 Unspecified CHRDL1 +OMIM:300350 skos:exactMatch HGNC_symbol:CHRDL1 Unspecified CHRDL1 +OMIM:300350 skos:exactMatch HGNC:29861 Unspecified CHRDL1 +OMIM:602159 skos:exactMatch HGNC:2255 Unspecified CORO2A +OMIM:602159 skos:exactMatch UMLS:C1413625 Unspecified CORO2A +OMIM:602159 skos:exactMatch HGNC_symbol:CORO2A Unspecified CORO2A +OMIM:300353 skos:exactMatch HGNC_symbol:VSIG4 Unspecified VSIG4 +OMIM:300353 skos:exactMatch UMLS:C1538071 Unspecified VSIG4 +OMIM:300353 skos:exactMatch HGNC:17032 Unspecified VSIG4 +OMIM:300352 skos:exactMatch UMLS:C1845862 Unspecified cerebral creatine deficiency syndrome 1 +OMIM:300355 skos:exactMatch UMLS:C1845860 Unspecified intellectual developmental disorder, X-linked 73 +OMIM:300354 skos:exactMatch UMLS:C1845861 Unspecified intellectual developmental disorder, x-linked, syndromic, cabezas iia +OMIM:300357 skos:exactMatch UMLS:C3275246 Unspecified CRLF2 +OMIM:300357 skos:exactMatch HGNC:14281 Unspecified CRLF2 +OMIM:300357 skos:exactMatch UMLS:C1422539 Unspecified CRLF2 +OMIM:300357 skos:exactMatch HGNC_symbol:CRLF2 Unspecified CRLF2 +OMIM:300356 skos:exactMatch HGNC_symbol:TIMM8A Unspecified TIMM8A +OMIM:300356 skos:exactMatch UMLS:C1420740 Unspecified TIMM8A +OMIM:300356 skos:exactMatch HGNC:11817 Unspecified TIMM8A +OMIM:300359 skos:exactMatch HGNC:30369 Unspecified SAGE1 +OMIM:300359 skos:exactMatch HGNC_symbol:SAGE1 Unspecified SAGE1 +OMIM:300359 skos:exactMatch UMLS:C1539721 Unspecified SAGE1 +OMIM:300358 skos:exactMatch HGNC_symbol:WNK3 Unspecified WNK3 +OMIM:300358 skos:exactMatch HGNC:14543 Unspecified WNK3 +OMIM:300358 skos:exactMatch UMLS:C1538112 Unspecified WNK3 +OMIM:614139 skos:exactMatch UMLS:C1428367 Unspecified TRAPPC12 +OMIM:614139 skos:exactMatch HGNC_symbol:TRAPPC12 Unspecified TRAPPC12 +OMIM:614139 skos:exactMatch HGNC:24284 Unspecified TRAPPC12 +OMIM:614138 skos:exactMatch UMLS:C2240268 Unspecified TRAPPC11 +OMIM:614138 skos:exactMatch HGNC_symbol:TRAPPC11 Unspecified TRAPPC11 +OMIM:614138 skos:exactMatch HGNC:25751 Unspecified TRAPPC11 +OMIM:614137 skos:exactMatch HGNC:21090 Unspecified BET3L +OMIM:614137 skos:exactMatch UMLS:C1427309 Unspecified BET3L +OMIM:614137 skos:exactMatch HGNC_symbol:TRAPPC3L Unspecified BET3L +OMIM:614136 skos:exactMatch HGNC:29169 Unspecified TRAPPC8 +OMIM:614136 skos:exactMatch UMLS:C1428805 Unspecified TRAPPC8 +OMIM:614136 skos:exactMatch HGNC_symbol:TRAPPC8 Unspecified TRAPPC8 +OMIM:614146 skos:exactMatch HGNC:17721 Unspecified DNAAF9 +OMIM:614146 skos:exactMatch UMLS:C1425047 Unspecified DNAAF9 +OMIM:614146 skos:exactMatch HGNC_symbol:DNAAF9 Unspecified DNAAF9 +OMIM:616798 skos:exactMatch UMLS:C1421765 Unspecified ZFP28 +OMIM:616798 skos:exactMatch HGNC:17801 Unspecified ZFP28 +OMIM:616798 skos:exactMatch HGNC_symbol:ZFP28 Unspecified ZFP28 +OMIM:253550 skos:exactMatch UMLS:C0393538 Unspecified spinal muscular atrophy, iia 2 +OMIM:614145 skos:exactMatch UMLS:C1428477 Unspecified CCDC8 +OMIM:614145 skos:exactMatch HGNC_symbol:CCDC8 Unspecified CCDC8 +OMIM:614145 skos:exactMatch HGNC:25367 Unspecified CCDC8 +OMIM:616799 skos:exactMatch HGNC:21537 Unspecified SYCP2L +OMIM:616799 skos:exactMatch UMLS:C1427596 Unspecified SYCP2L +OMIM:616799 skos:exactMatch HGNC_symbol:SYCP2L Unspecified SYCP2L +OMIM:614144 skos:exactMatch HGNC:24123 Unspecified B9D1 +OMIM:614144 skos:exactMatch UMLS:C2240201 Unspecified B9D1 +OMIM:614144 skos:exactMatch HGNC_symbol:B9D1 Unspecified B9D1 +OMIM:314993 skos:exactMatch UMLS:C1823965 Unspecified ZNF182 +OMIM:314993 skos:exactMatch HGNC:13001 Unspecified ZNF182 +OMIM:314993 skos:exactMatch HGNC_symbol:ZNF182 Unspecified ZNF182 +OMIM:614143 skos:exactMatch UMLS:C1823414 Unspecified IGFLR1 +OMIM:614143 skos:exactMatch HGNC:23620 Unspecified IGFLR1 +OMIM:614143 skos:exactMatch HGNC_symbol:IGFLR1 Unspecified IGFLR1 +OMIM:614142 skos:exactMatch UMLS:C1428692 Unspecified CUEDC2 +OMIM:614142 skos:exactMatch HGNC:28352 Unspecified CUEDC2 +OMIM:614142 skos:exactMatch HGNC_symbol:CUEDC2 Unspecified CUEDC2 +OMIM:314995 skos:exactMatch HGNC_symbol:ZNF41 Unspecified ZNF41 +OMIM:314995 skos:exactMatch HGNC:13107 Unspecified ZNF41 +OMIM:314995 skos:exactMatch UMLS:C1421797 Unspecified ZNF41 +OMIM:614141 skos:exactMatch HGNC:15974 Unspecified TRIM2 +OMIM:614141 skos:exactMatch UMLS:C1423877 Unspecified TRIM2 +OMIM:614141 skos:exactMatch HGNC_symbol:TRIM2 Unspecified TRIM2 +OMIM:314998 skos:exactMatch UMLS:C1421840 Unspecified ZNF81 +OMIM:314998 skos:exactMatch HGNC_symbol:ZNF81 Unspecified ZNF81 +OMIM:314998 skos:exactMatch HGNC:13156 Unspecified ZNF81 +OMIM:614140 skos:exactMatch HGNC_symbol:SPECC1L Unspecified SPECC1L +OMIM:614140 skos:exactMatch HGNC:29022 Unspecified SPECC1L +OMIM:614140 skos:exactMatch UMLS:C1823097 Unspecified SPECC1L +OMIM:314997 skos:exactMatch UMLS:C1421829 Unspecified ZNF75D +OMIM:314997 skos:exactMatch HGNC_symbol:ZNF75D Unspecified ZNF75D +OMIM:314997 skos:exactMatch HGNC:13145 Unspecified ZNF75D +OMIM:602160 skos:exactMatch HGNC_symbol:TFDP2 Unspecified TFDP2 +OMIM:602160 skos:exactMatch UMLS:C1336607 Unspecified TFDP2 +OMIM:602160 skos:exactMatch HGNC:11751 Unspecified TFDP2 +OMIM:602161 skos:exactMatch HGNC:9569 Unspecified PSME2 +OMIM:602161 skos:exactMatch UMLS:C1419042 Unspecified PSME2 +OMIM:602161 skos:exactMatch HGNC_symbol:PSME2 Unspecified PSME2 +OMIM:602162 skos:exactMatch HGNC_symbol:SYCP1 Unspecified SYCP1 +OMIM:602162 skos:exactMatch HGNC:11487 Unspecified SYCP1 +OMIM:602162 skos:exactMatch UMLS:C1420537 Unspecified SYCP1 +OMIM:602163 skos:exactMatch HGNC_symbol:UBE2E2 Unspecified UBE2E2 +OMIM:602163 skos:exactMatch HGNC:12478 Unspecified UBE2E2 +OMIM:602163 skos:exactMatch UMLS:C1421277 Unspecified UBE2E2 +OMIM:602164 skos:exactMatch UMLS:C1415813 Unspecified HTR4 +OMIM:602164 skos:exactMatch HGNC:5299 Unspecified HTR4 +OMIM:602164 skos:exactMatch HGNC_symbol:HTR4 Unspecified HTR4 +OMIM:602165 skos:exactMatch UMLS:C1823489 Unspecified TRIM27 +OMIM:602165 skos:exactMatch HGNC_symbol:TRIM27 Unspecified TRIM27 +OMIM:602165 skos:exactMatch HGNC:9975 Unspecified TRIM27 +OMIM:602166 skos:exactMatch HGNC:567 Unspecified AP3B2 +OMIM:602166 skos:exactMatch UMLS:C1412447 Unspecified AP3B2 +OMIM:602166 skos:exactMatch UMLS:C4310637 Unspecified AP3B2 +OMIM:602166 skos:exactMatch HGNC_symbol:AP3B2 Unspecified AP3B2 +OMIM:602167 skos:exactMatch UMLS:C1414465 Unspecified ESRRB +OMIM:602167 skos:exactMatch HGNC_symbol:ESRRB Unspecified ESRRB +OMIM:602167 skos:exactMatch HGNC:3473 Unspecified ESRRB +OMIM:602146 skos:exactMatch HGNC:21734 Unspecified LHX4 +OMIM:602146 skos:exactMatch HGNC_symbol:LHX4 Unspecified LHX4 +OMIM:602146 skos:exactMatch UMLS:C1427728 Unspecified LHX4 +OMIM:602146 skos:exactMatch UMLS:C1865797 Unspecified LHX4 +OMIM:300362 skos:exactMatch HGNC:18073 Unspecified ARMCX1 +OMIM:300362 skos:exactMatch UMLS:C1538939 Unspecified ARMCX1 +OMIM:300362 skos:exactMatch HGNC_symbol:ARMCX1 Unspecified ARMCX1 +OMIM:300361 skos:exactMatch HGNC_symbol:BEX3 Unspecified NGFRAP1 +OMIM:300361 skos:exactMatch HGNC:13388 Unspecified NGFRAP1 +OMIM:300361 skos:exactMatch UMLS:C1334878 Unspecified NGFRAP1 +OMIM:300364 skos:exactMatch HGNC_symbol:ARMCX3 Unspecified ARMCX3 +OMIM:300364 skos:exactMatch HGNC:24065 Unspecified ARMCX3 +OMIM:300364 skos:exactMatch UMLS:C1538941 Unspecified ARMCX3 +OMIM:602148 skos:exactMatch UMLS:C1420316 Unspecified SOX1 +OMIM:602148 skos:exactMatch HGNC_symbol:SOX1 Unspecified SOX1 +OMIM:602148 skos:exactMatch HGNC:11189 Unspecified SOX1 +OMIM:602149 skos:exactMatch UMLS:C1418595 Unspecified PITX1 +OMIM:602149 skos:exactMatch HGNC_symbol:PITX1 Unspecified PITX1 +OMIM:602149 skos:exactMatch HGNC:9004 Unspecified PITX1 +OMIM:300363 skos:exactMatch HGNC:16869 Unspecified ARMCX2 +OMIM:300363 skos:exactMatch UMLS:C1538940 Unspecified ARMCX2 +OMIM:300363 skos:exactMatch HGNC_symbol:ARMCX2 Unspecified ARMCX2 +OMIM:300366 skos:exactMatch UMLS:C1336640 Unspecified TLR8 +OMIM:300366 skos:exactMatch HGNC:15632 Unspecified TLR8 +OMIM:300366 skos:exactMatch HGNC_symbol:TLR8 Unspecified TLR8 +OMIM:300365 skos:exactMatch UMLS:C1336639 Unspecified TLR7 +OMIM:300365 skos:exactMatch HGNC_symbol:TLR7 Unspecified TLR7 +OMIM:300365 skos:exactMatch HGNC:15631 Unspecified TLR7 +OMIM:300365 skos:exactMatch UMLS:C5436946 Unspecified TLR7 +OMIM:300368 skos:exactMatch HGNC_symbol:SLC9A7 Unspecified SLC9A7 +OMIM:300368 skos:exactMatch UMLS:C1424759 Unspecified SLC9A7 +OMIM:300368 skos:exactMatch HGNC:17123 Unspecified SLC9A7 +OMIM:300367 skos:exactMatch UMLS:C3550789 Unspecified thrombocytopenia, x-linked, with or without dyserythropoietic anemia +OMIM:616790 skos:exactMatch UMLS:C2678578 Unspecified PPP4R4 +OMIM:616790 skos:exactMatch HGNC_symbol:PPP4R4 Unspecified PPP4R4 +OMIM:616790 skos:exactMatch HGNC:23788 Unspecified PPP4R4 +OMIM:300369 skos:exactMatch HGNC:15805 Unspecified GCNA +OMIM:300369 skos:exactMatch HGNC_symbol:GCNA Unspecified GCNA +OMIM:300369 skos:exactMatch UMLS:C1423743 Unspecified GCNA +OMIM:616791 skos:exactMatch UMLS:C1426225 Unspecified PGBD5 +OMIM:616791 skos:exactMatch HGNC:19405 Unspecified PGBD5 +OMIM:616791 skos:exactMatch HGNC_symbol:PGBD5 Unspecified PGBD5 +OMIM:616792 skos:exactMatch UMLS:C4225207 Unspecified neuroblastoma, susceptibility to, 7 +OMIM:616793 skos:exactMatch UMLS:C1428924 Unspecified PLA2G2F +OMIM:616793 skos:exactMatch HGNC:30040 Unspecified PLA2G2F +OMIM:616793 skos:exactMatch HGNC_symbol:PLA2G2F Unspecified PLA2G2F +OMIM:614129 skos:exactMatch UMLS:C3808414 Unspecified perrault syndrome 3 +OMIM:616794 skos:exactMatch UMLS:C4225206 Unspecified combined oxidative phosphorylation deficiency 28 +OMIM:614128 skos:exactMatch UMLS:C3279904 Unspecified lactate dehydrogenase B deficiency +OMIM:614127 skos:exactMatch UMLS:C1826273 Unspecified MTARC2 +OMIM:614127 skos:exactMatch HGNC_symbol:MTARC2 Unspecified MTARC2 +OMIM:614127 skos:exactMatch HGNC:26064 Unspecified MTARC2 +OMIM:616795 skos:exactMatch UMLS:C4225205 Unspecified spinocerebellar ataxia 42 +OMIM:616796 skos:exactMatch HGNC:19979 Unspecified RDH14 +OMIM:616796 skos:exactMatch HGNC_symbol:RDH14 Unspecified RDH14 +OMIM:616796 skos:exactMatch UMLS:C1426579 Unspecified RDH14 +OMIM:614126 skos:exactMatch UMLS:C1826272 Unspecified MTARC1 +OMIM:614126 skos:exactMatch HGNC_symbol:MTARC1 Unspecified MTARC1 +OMIM:614126 skos:exactMatch HGNC:26189 Unspecified MTARC1 +OMIM:616797 skos:exactMatch HGNC:29155 Unspecified EFR3B +OMIM:616797 skos:exactMatch HGNC_symbol:EFR3B Unspecified EFR3B +OMIM:616797 skos:exactMatch UMLS:C1428801 Unspecified EFR3B +OMIM:614125 skos:exactMatch HGNC:19200 Unspecified DPPA4 +OMIM:614125 skos:exactMatch UMLS:C1426085 Unspecified DPPA4 +OMIM:614125 skos:exactMatch HGNC_symbol:DPPA4 Unspecified DPPA4 +OMIM:614135 skos:exactMatch UMLS:C2675767 Unspecified epiphyseal dysplasia, multiple, 6 +OMIM:616787 skos:exactMatch HGNC_symbol:CLUAP1 Unspecified CLUAP1 +OMIM:616787 skos:exactMatch UMLS:C1539108 Unspecified CLUAP1 +OMIM:616787 skos:exactMatch HGNC:19009 Unspecified CLUAP1 +OMIM:616788 skos:exactMatch UMLS:C4225209 Unspecified orofacial cleft 15 +OMIM:614134 skos:exactMatch UMLS:C3279941 Unspecified stickler syndrome, iia 4 +OMIM:614133 skos:exactMatch HGNC_symbol:HEPACAM2 Unspecified HEPACAM2 +OMIM:614133 skos:exactMatch HGNC:27364 Unspecified HEPACAM2 +OMIM:614133 skos:exactMatch UMLS:C2681565 Unspecified HEPACAM2 +OMIM:616789 skos:exactMatch UMLS:C4225208 Unspecified impaired intellectual development and distinctive facial features with or without cardiac defects +OMIM:614131 skos:exactMatch UMLS:C3279905 Unspecified focal segmental glomerulosclerosis 6 +OMIM:614130 skos:exactMatch HGNC:30713 Unspecified ADAD1 +OMIM:614130 skos:exactMatch HGNC_symbol:ADAD1 Unspecified ADAD1 +OMIM:614130 skos:exactMatch UMLS:C2240366 Unspecified ADAD1 +OMIM:602150 skos:exactMatch HGNC:11094 Unspecified SNAI2 +OMIM:602150 skos:exactMatch HGNC_symbol:SNAI2 Unspecified SNAI2 +OMIM:602150 skos:exactMatch UMLS:C1420248 Unspecified SNAI2 +OMIM:602151 skos:exactMatch UMLS:C1414201 Unspecified DVL2 +OMIM:602151 skos:exactMatch HGNC_symbol:DVL2 Unspecified DVL2 +OMIM:602151 skos:exactMatch HGNC:3086 Unspecified DVL2 +OMIM:602152 skos:exactMatch UMLS:C1865794 Unspecified rhyns syndrome +OMIM:602153 skos:exactMatch UMLS:C1825768 Unspecified KRT81 +OMIM:602153 skos:exactMatch HGNC_symbol:KRT81 Unspecified KRT81 +OMIM:602153 skos:exactMatch HGNC:6458 Unspecified KRT81 +OMIM:602154 skos:exactMatch UMLS:C1865791 Unspecified None +OMIM:300371 skos:exactMatch UMLS:C1412084 Unspecified ABCD1 +OMIM:300371 skos:exactMatch HGNC_symbol:ABCD1 Unspecified ABCD1 +OMIM:300371 skos:exactMatch HGNC:61 Unspecified ABCD1 +OMIM:602155 skos:exactMatch UMLS:C1823585 Unspecified UBXN8 +OMIM:602155 skos:exactMatch HGNC:30307 Unspecified UBXN8 +OMIM:602155 skos:exactMatch HGNC_symbol:UBXN8 Unspecified UBXN8 +OMIM:300370 skos:exactMatch HGNC:12270 Unspecified TREX2 +OMIM:300370 skos:exactMatch HGNC_symbol:TREX2 Unspecified TREX2 +OMIM:300370 skos:exactMatch UMLS:C1336671 Unspecified TREX2 +OMIM:602135 skos:exactMatch HGNC_symbol:DNALI1 Unspecified DNALI1 +OMIM:602135 skos:exactMatch UMLS:C1422587 Unspecified DNALI1 +OMIM:602135 skos:exactMatch HGNC:14353 Unspecified DNALI1 +OMIM:604798 skos:exactMatch HGNC_symbol:HOMER1 Unspecified HOMER1 +OMIM:604798 skos:exactMatch HGNC:17512 Unspecified HOMER1 +OMIM:604798 skos:exactMatch UMLS:C1424986 Unspecified HOMER1 +OMIM:604797 skos:exactMatch HGNC:605 Unspecified APOBEC2 +OMIM:604797 skos:exactMatch HGNC_symbol:APOBEC2 Unspecified APOBEC2 +OMIM:604797 skos:exactMatch UMLS:C1412473 Unspecified APOBEC2 +OMIM:602136 skos:exactMatch UMLS:C1418469 Unspecified PEX1 +OMIM:602136 skos:exactMatch HGNC:8850 Unspecified PEX1 +OMIM:602136 skos:exactMatch HGNC_symbol:PEX1 Unspecified PEX1 +OMIM:602137 skos:exactMatch UMLS:C1417622 Unspecified NDUFA2 +OMIM:602137 skos:exactMatch HGNC_symbol:NDUFA2 Unspecified NDUFA2 +OMIM:602137 skos:exactMatch UMLS:C4748770 Unspecified NDUFA2 +OMIM:602137 skos:exactMatch HGNC:7685 Unspecified NDUFA2 +OMIM:300330 skos:exactMatch HGNC_symbol:SPANXC Unspecified SPANXC +OMIM:300330 skos:exactMatch HGNC:14331 Unspecified SPANXC +OMIM:300330 skos:exactMatch UMLS:C1422569 Unspecified SPANXC +OMIM:241550 skos:exactMatch UMLS:C4551854 Unspecified hypoplastic left heart syndrome 1 +OMIM:602138 skos:exactMatch UMLS:C1417627 Unspecified NDUFA6 +OMIM:602138 skos:exactMatch HGNC_symbol:NDUFA6 Unspecified NDUFA6 +OMIM:602138 skos:exactMatch HGNC:7690 Unspecified NDUFA6 +OMIM:604799 skos:exactMatch UMLS:C4225240 Unspecified HOMER2 +OMIM:604799 skos:exactMatch HGNC_symbol:HOMER2 Unspecified HOMER2 +OMIM:604799 skos:exactMatch HGNC:17513 Unspecified HOMER2 +OMIM:604799 skos:exactMatch UMLS:C1424987 Unspecified HOMER2 +OMIM:602139 skos:exactMatch UMLS:C1417628 Unspecified NDUFA7 +OMIM:602139 skos:exactMatch HGNC_symbol:NDUFA7 Unspecified NDUFA7 +OMIM:602139 skos:exactMatch HGNC:7691 Unspecified NDUFA7 +OMIM:300333 skos:exactMatch HGNC:9773 Unspecified RAB33A +OMIM:300333 skos:exactMatch HGNC_symbol:RAB33A Unspecified RAB33A +OMIM:300333 skos:exactMatch UMLS:C1419202 Unspecified RAB33A +OMIM:300332 skos:exactMatch UMLS:C1416497 Unspecified ITGB1BP2 +OMIM:300332 skos:exactMatch HGNC_symbol:ITGB1BP2 Unspecified ITGB1BP2 +OMIM:300332 skos:exactMatch HGNC:6154 Unspecified ITGB1BP2 +OMIM:300335 skos:exactMatch HGNC_symbol:ACE2 Unspecified ACE2 +OMIM:300335 skos:exactMatch HGNC:13557 Unspecified ACE2 +OMIM:300335 skos:exactMatch UMLS:C1422064 Unspecified ACE2 +OMIM:300334 skos:exactMatch UMLS:C1421172 Unspecified TRPC5 +OMIM:300334 skos:exactMatch HGNC_symbol:TRPC5 Unspecified TRPC5 +OMIM:300334 skos:exactMatch HGNC:12337 Unspecified TRPC5 +OMIM:300337 skos:exactMatch UMLS:C0022283 Unspecified hypomelanosis of ito +OMIM:300336 skos:exactMatch HGNC_symbol:NLGN3 Unspecified NLGN3 +OMIM:300336 skos:exactMatch UMLS:C1422546 Unspecified NLGN3 +OMIM:300336 skos:exactMatch UMLS:C3151708 Unspecified NLGN3 +OMIM:300336 skos:exactMatch HGNC:14289 Unspecified NLGN3 +OMIM:300336 skos:exactMatch UMLS:C1845540 Unspecified NLGN3 +OMIM:616780 skos:exactMatch UMLS:C4225210 Unspecified oocyte maturation defect 2 +OMIM:614119 skos:exactMatch HGNC:30700 Unspecified TSHZ3 +OMIM:614119 skos:exactMatch HGNC_symbol:TSHZ3 Unspecified TSHZ3 +OMIM:614119 skos:exactMatch UMLS:C1823516 Unspecified TSHZ3 +OMIM:300339 skos:exactMatch HGNC_symbol:PPP2R3B Unspecified PPP2R3B +OMIM:300339 skos:exactMatch UMLS:C1421981 Unspecified PPP2R3B +OMIM:300339 skos:exactMatch HGNC:13417 Unspecified PPP2R3B +OMIM:616781 skos:exactMatch UMLS:C4084842 Unspecified joubert syndrome 25 +OMIM:616782 skos:exactMatch HGNC_symbol:GCNT4 Unspecified GCNT4 +OMIM:616782 skos:exactMatch HGNC:17973 Unspecified GCNT4 +OMIM:616782 skos:exactMatch UMLS:C1825339 Unspecified GCNT4 +OMIM:300338 skos:exactMatch HGNC:2149 Unspecified CNGA2 +OMIM:300338 skos:exactMatch HGNC_symbol:CNGA2 Unspecified CNGA2 +OMIM:300338 skos:exactMatch UMLS:C1413544 Unspecified CNGA2 +OMIM:614118 skos:exactMatch HGNC_symbol:TSHZ2 Unspecified TSHZ2 +OMIM:614118 skos:exactMatch UMLS:C1823515 Unspecified TSHZ2 +OMIM:614118 skos:exactMatch HGNC:13010 Unspecified TSHZ2 +OMIM:616783 skos:exactMatch HGNC_symbol:UBXN10 Unspecified UBXN10 +OMIM:616783 skos:exactMatch UMLS:C1428576 Unspecified UBXN10 +OMIM:616783 skos:exactMatch HGNC:26354 Unspecified UBXN10 +OMIM:614117 skos:exactMatch UMLS:C1825076 Unspecified EXOC3L1 +OMIM:614117 skos:exactMatch HGNC_symbol:EXOC3L1 Unspecified EXOC3L1 +OMIM:614117 skos:exactMatch HGNC:27540 Unspecified EXOC3L1 +OMIM:614116 skos:exactMatch UMLS:C3279885 Unspecified neuropathy, hereditary sensory, iia 1e +OMIM:616784 skos:exactMatch UMLS:C4084843 Unspecified joubert syndrome 26 +OMIM:616784 skos:exactMatch ORPHA:475 Unspecified joubert syndrome 26 +OMIM:614115 skos:exactMatch UMLS:C3279875 Unspecified cortical malformations, occipital +OMIM:616785 skos:exactMatch UMLS:C1421978 Unspecified PHTF2 +OMIM:616785 skos:exactMatch HGNC_symbol:PHTF2 Unspecified PHTF2 +OMIM:616785 skos:exactMatch HGNC:13411 Unspecified PHTF2 +OMIM:614114 skos:exactMatch UMLS:C3279843 Unspecified mosaic variegated aneuploidy syndrome 2 +OMIM:614114 skos:exactMatch ORPHA:1052 Unspecified mosaic variegated aneuploidy syndrome 2 +OMIM:616786 skos:exactMatch UMLS:C1825947 Unspecified MAPKBP1 +OMIM:616786 skos:exactMatch HGNC:29536 Unspecified MAPKBP1 +OMIM:616786 skos:exactMatch HGNC_symbol:MAPKBP1 Unspecified MAPKBP1 +OMIM:614124 skos:exactMatch HGNC_symbol:GPCPD1 Unspecified GPCPD1 +OMIM:614124 skos:exactMatch UMLS:C2829540 Unspecified GPCPD1 +OMIM:614124 skos:exactMatch HGNC:26957 Unspecified GPCPD1 +OMIM:616776 skos:exactMatch HGNC_symbol:DUSP15 Unspecified DUSP15 +OMIM:616776 skos:exactMatch HGNC:16236 Unspecified DUSP15 +OMIM:616776 skos:exactMatch UMLS:C1424112 Unspecified DUSP15 +OMIM:614123 skos:exactMatch HGNC:18188 Unspecified TMCO1 +OMIM:614123 skos:exactMatch UMLS:C1823293 Unspecified TMCO1 +OMIM:614123 skos:exactMatch UMLS:C1859252 Unspecified TMCO1 +OMIM:614123 skos:exactMatch HGNC_symbol:TMCO1 Unspecified TMCO1 +OMIM:616777 skos:exactMatch UMLS:C4225212 Unspecified seckel syndrome 9 +OMIM:616778 skos:exactMatch HGNC_symbol:DUSP22 Unspecified DUSP22 +OMIM:616778 skos:exactMatch UMLS:C1423960 Unspecified DUSP22 +OMIM:616778 skos:exactMatch HGNC:16077 Unspecified DUSP22 +OMIM:614122 skos:exactMatch UMLS:C3279902 Unspecified chitotriosidase deficiency +OMIM:616779 skos:exactMatch UMLS:C4225211 Unspecified cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 2 +OMIM:614121 skos:exactMatch UMLS:C1428624 Unspecified TENT2 +OMIM:614121 skos:exactMatch HGNC:26776 Unspecified TENT2 +OMIM:614121 skos:exactMatch HGNC_symbol:TENT2 Unspecified TENT2 +OMIM:614120 skos:exactMatch UMLS:C3279899 Unspecified hydrolethalus syndrome 2 +OMIM:602140 skos:exactMatch HGNC_symbol:NDUFB8 Unspecified NDUFB8 +OMIM:602140 skos:exactMatch HGNC:7703 Unspecified NDUFB8 +OMIM:602140 skos:exactMatch UMLS:C1417640 Unspecified NDUFB8 +OMIM:602141 skos:exactMatch HGNC_symbol:NDUFS8 Unspecified NDUFS8 +OMIM:602141 skos:exactMatch HGNC:7715 Unspecified NDUFS8 +OMIM:602141 skos:exactMatch UMLS:C1417651 Unspecified NDUFS8 +OMIM:602142 skos:exactMatch HGNC:9060 Unspecified PLCD1 +OMIM:602142 skos:exactMatch HGNC_symbol:PLCD1 Unspecified PLCD1 +OMIM:602142 skos:exactMatch UMLS:C1418635 Unspecified PLCD1 +OMIM:602143 skos:exactMatch UMLS:C0812245 Unspecified TP53BP2 +OMIM:602143 skos:exactMatch HGNC_symbol:TP53BP2 Unspecified TP53BP2 +OMIM:602143 skos:exactMatch HGNC:12000 Unspecified TP53BP2 +OMIM:602144 skos:exactMatch HGNC:1105 Unspecified BRDT +OMIM:602144 skos:exactMatch UMLS:C1412822 Unspecified BRDT +OMIM:602144 skos:exactMatch HGNC_symbol:BRDT Unspecified BRDT +OMIM:602145 skos:exactMatch HGNC_symbol:PA2G4 Unspecified PA2G4 +OMIM:602145 skos:exactMatch HGNC:8550 Unspecified PA2G4 +OMIM:602145 skos:exactMatch UMLS:C1418226 Unspecified PA2G4 +OMIM:602124 skos:exactMatch UMLS:C1865819 Unspecified dystonia 7, torsion +OMIM:602124 skos:exactMatch UMLS:C1865818 Unspecified dystonia 7, torsion +OMIM:300340 skos:exactMatch UMLS:C1416976 Unspecified MAGEA5 +OMIM:300340 skos:exactMatch HGNC_symbol:MAGEA5P Unspecified MAGEA5 +OMIM:300340 skos:exactMatch HGNC:6803 Unspecified MAGEA5 +OMIM:604787 skos:exactMatch UMLS:C1824201 Unspecified ARL4C +OMIM:604787 skos:exactMatch HGNC:698 Unspecified ARL4C +OMIM:604787 skos:exactMatch HGNC_symbol:ARL4C Unspecified ARL4C +OMIM:602125 skos:exactMatch UMLS:C5436682 Unspecified COX10 +OMIM:602125 skos:exactMatch HGNC:2260 Unspecified COX10 +OMIM:602125 skos:exactMatch UMLS:C1413629 Unspecified COX10 +OMIM:602125 skos:exactMatch HGNC_symbol:COX10 Unspecified COX10 +OMIM:604786 skos:exactMatch UMLS:C1538929 Unspecified ARL4A +OMIM:604786 skos:exactMatch HGNC:695 Unspecified ARL4A +OMIM:604786 skos:exactMatch HGNC_symbol:ARL4A Unspecified ARL4A +OMIM:604789 skos:exactMatch UMLS:C1416483 Unspecified ITGA11 +OMIM:604789 skos:exactMatch HGNC_symbol:ITGA11 Unspecified ITGA11 +OMIM:604789 skos:exactMatch HGNC:6136 Unspecified ITGA11 +OMIM:300342 skos:exactMatch UMLS:C1416980 Unspecified MAGEA9 +OMIM:300342 skos:exactMatch HGNC_symbol:MAGEA9 Unspecified MAGEA9 +OMIM:300342 skos:exactMatch HGNC:6807 Unspecified MAGEA9 +OMIM:602126 skos:exactMatch HGNC:12860 Unspecified ZBTB14 +OMIM:602126 skos:exactMatch UMLS:C1421569 Unspecified ZBTB14 +OMIM:602126 skos:exactMatch HGNC_symbol:ZBTB14 Unspecified ZBTB14 +OMIM:604788 skos:exactMatch UMLS:C1419774 Unspecified RUVBL2 +OMIM:604788 skos:exactMatch HGNC:10475 Unspecified RUVBL2 +OMIM:604788 skos:exactMatch HGNC_symbol:RUVBL2 Unspecified RUVBL2 +OMIM:300341 skos:exactMatch UMLS:C1416979 Unspecified MAGEA8 +OMIM:300341 skos:exactMatch HGNC_symbol:MAGEA8 Unspecified MAGEA8 +OMIM:300341 skos:exactMatch HGNC:6806 Unspecified MAGEA8 +OMIM:602127 skos:exactMatch HGNC:11126 Unspecified SMTN +OMIM:602127 skos:exactMatch UMLS:C1420265 Unspecified SMTN +OMIM:602127 skos:exactMatch HGNC_symbol:SMTN Unspecified SMTN +OMIM:602128 skos:exactMatch UMLS:C1424663 Unspecified GAS2L1 +OMIM:602128 skos:exactMatch HGNC_symbol:GAS2L1 Unspecified GAS2L1 +OMIM:602128 skos:exactMatch HGNC:16955 Unspecified GAS2L1 +OMIM:300344 skos:exactMatch UMLS:C1416972 Unspecified MAGEA11 +OMIM:300344 skos:exactMatch HGNC_symbol:MAGEA11 Unspecified MAGEA11 +OMIM:300344 skos:exactMatch HGNC:6798 Unspecified MAGEA11 +OMIM:300343 skos:exactMatch UMLS:C1416971 Unspecified MAGEA10 +OMIM:300343 skos:exactMatch HGNC_symbol:MAGEA10 Unspecified MAGEA10 +OMIM:300343 skos:exactMatch HGNC:6797 Unspecified MAGEA10 +OMIM:602129 skos:exactMatch HGNC:7609 Unspecified MYO9B +OMIM:602129 skos:exactMatch UMLS:C1417572 Unspecified MYO9B +OMIM:602129 skos:exactMatch HGNC_symbol:MYO9B Unspecified MYO9B +OMIM:300346 skos:exactMatch UMLS:C1415794 Unspecified HTATSF1 +OMIM:300346 skos:exactMatch HGNC_symbol:HTATSF1 Unspecified HTATSF1 +OMIM:300346 skos:exactMatch HGNC:5276 Unspecified HTATSF1 +OMIM:300345 skos:exactMatch UMLS:C1845877 Unspecified microphthalmia, isolated, with coloboma 1 +OMIM:300348 skos:exactMatch HGNC_symbol:KLHL4 Unspecified KLHL4 +OMIM:300348 skos:exactMatch UMLS:C1416667 Unspecified KLHL4 +OMIM:300348 skos:exactMatch HGNC:6355 Unspecified KLHL4 +OMIM:300347 skos:exactMatch HGNC_symbol:DIAPH2-AS1 Unspecified DIAPH2AS1 +OMIM:300347 skos:exactMatch HGNC:16972 Unspecified DIAPH2AS1 +OMIM:300347 skos:exactMatch UMLS:C1845876 Unspecified DIAPH2AS1 +OMIM:614109 skos:exactMatch UMLS:C1424335 Unspecified BPIFC +OMIM:614109 skos:exactMatch HGNC_symbol:BPIFC Unspecified BPIFC +OMIM:614109 skos:exactMatch HGNC:16503 Unspecified BPIFC +OMIM:614108 skos:exactMatch HGNC_symbol:BPIFB2 Unspecified BPIFB2 +OMIM:614108 skos:exactMatch UMLS:C1424054 Unspecified BPIFB2 +OMIM:614108 skos:exactMatch HGNC:16177 Unspecified BPIFB2 +OMIM:616770 skos:exactMatch UMLS:C1537854 Unspecified MIR218-1 +OMIM:616770 skos:exactMatch HGNC:31595 Unspecified MIR218-1 +OMIM:616770 skos:exactMatch HGNC_symbol:MIR218-1 Unspecified MIR218-1 +OMIM:300349 skos:exactMatch UMLS:C1422662 Unspecified GABRQ +OMIM:300349 skos:exactMatch HGNC_symbol:GABRQ Unspecified GABRQ +OMIM:300349 skos:exactMatch HGNC:14454 Unspecified GABRQ +OMIM:614107 skos:exactMatch HGNC_symbol:KPNA7 Unspecified KPNA7 +OMIM:614107 skos:exactMatch UMLS:C2681636 Unspecified KPNA7 +OMIM:614107 skos:exactMatch UMLS:C2986382 Unspecified KPNA7 +OMIM:614107 skos:exactMatch HGNC:21839 Unspecified KPNA7 +OMIM:616771 skos:exactMatch UMLS:C1537855 Unspecified MIR218-2 +OMIM:616771 skos:exactMatch HGNC:31596 Unspecified MIR218-2 +OMIM:616771 skos:exactMatch HGNC_symbol:MIR218-2 Unspecified MIR218-2 +OMIM:614106 skos:exactMatch HGNC:21355 Unspecified MLIP +OMIM:614106 skos:exactMatch HGNC_symbol:MLIP Unspecified MLIP +OMIM:614106 skos:exactMatch UMLS:C1427504 Unspecified MLIP +OMIM:616772 skos:exactMatch HGNC_symbol:MAN1C1 Unspecified MAN1C1 +OMIM:616772 skos:exactMatch UMLS:C1425996 Unspecified MAN1C1 +OMIM:616772 skos:exactMatch HGNC:19080 Unspecified MAN1C1 +OMIM:616773 skos:exactMatch HGNC_symbol:MIGA1 Unspecified MIGA1 +OMIM:616773 skos:exactMatch UMLS:C1825140 Unspecified MIGA1 +OMIM:616773 skos:exactMatch HGNC:24741 Unspecified MIGA1 +OMIM:614105 skos:exactMatch UMLS:C3279840 Unspecified methylmalonate semialdehyde dehydrogenase deficiency +OMIM:614105 skos:exactMatch ORPHA:289307 Unspecified methylmalonate semialdehyde dehydrogenase deficiency +OMIM:614104 skos:exactMatch UMLS:C3279839 Unspecified intellectual developmental disorder, autosomal dominant 7 +OMIM:616774 skos:exactMatch HGNC_symbol:MIGA2 Unspecified MIGA2 +OMIM:616774 skos:exactMatch UMLS:C1825141 Unspecified MIGA2 +OMIM:616774 skos:exactMatch HGNC:23621 Unspecified MIGA2 +OMIM:314990 skos:exactMatch HGNC:13128 Unspecified ZNF711 +OMIM:314990 skos:exactMatch UMLS:C1824015 Unspecified ZNF711 +OMIM:314990 skos:exactMatch HGNC_symbol:ZNF711 Unspecified ZNF711 +OMIM:614103 skos:exactMatch UMLS:C0398370 Unspecified lipedema +OMIM:616775 skos:exactMatch HGNC_symbol:ZNF683 Unspecified ZNF683 +OMIM:616775 skos:exactMatch HGNC:28495 Unspecified ZNF683 +OMIM:616775 skos:exactMatch UMLS:C1538246 Unspecified ZNF683 +OMIM:616765 skos:exactMatch UMLS:C1539724 Unspecified SAMD11 +OMIM:616765 skos:exactMatch HGNC_symbol:SAMD11 Unspecified SAMD11 +OMIM:616765 skos:exactMatch HGNC:28706 Unspecified SAMD11 +OMIM:614113 skos:exactMatch UMLS:C3279842 Unspecified intellectual developmental disorder, autosomal dominant 2 +OMIM:314980 skos:exactMatch HGNC_symbol:ZFX Unspecified ZFX +OMIM:314980 skos:exactMatch HGNC:12869 Unspecified ZFX +OMIM:314980 skos:exactMatch UMLS:C1421578 Unspecified ZFX +OMIM:616766 skos:exactMatch UMLS:C1823560 Unspecified TMX4 +OMIM:616766 skos:exactMatch HGNC_symbol:TMX4 Unspecified TMX4 +OMIM:616766 skos:exactMatch HGNC:25237 Unspecified TMX4 +OMIM:614112 skos:exactMatch UMLS:C1537870 Unspecified MIR320A +OMIM:614112 skos:exactMatch HGNC:31632 Unspecified MIR320A +OMIM:614112 skos:exactMatch HGNC_symbol:MIR320A Unspecified MIR320A +OMIM:616767 skos:exactMatch HGNC_symbol:CAPNS2 Unspecified CAPNS2 +OMIM:616767 skos:exactMatch HGNC:16371 Unspecified CAPNS2 +OMIM:616767 skos:exactMatch UMLS:C1539062 Unspecified CAPNS2 +OMIM:614111 skos:exactMatch ORPHA:765 Unspecified pyruvate dehydrogenase e1-beta deficiency +OMIM:614111 skos:exactMatch UMLS:C3279841 Unspecified pyruvate dehydrogenase e1-beta deficiency +OMIM:614111 skos:exactMatch ORPHA:255138 Unspecified pyruvate dehydrogenase e1-beta deficiency +OMIM:614110 skos:exactMatch HGNC:16504 Unspecified BPIFB6 +OMIM:614110 skos:exactMatch HGNC_symbol:BPIFB6 Unspecified BPIFB6 +OMIM:614110 skos:exactMatch UMLS:C1424336 Unspecified BPIFB6 +OMIM:616768 skos:exactMatch UMLS:C3470204 Unspecified TUBB8 +OMIM:616768 skos:exactMatch HGNC:20773 Unspecified TUBB8 +OMIM:616768 skos:exactMatch HGNC_symbol:TUBB8 Unspecified TUBB8 +OMIM:616769 skos:exactMatch UMLS:C1538064 Unspecified NIT2 +OMIM:616769 skos:exactMatch HGNC_symbol:NIT2 Unspecified NIT2 +OMIM:616769 skos:exactMatch HGNC:29878 Unspecified NIT2 +OMIM:604790 skos:exactMatch HGNC_symbol:TAS2R14 Unspecified TAS2R14 +OMIM:604790 skos:exactMatch HGNC:14920 Unspecified TAS2R14 +OMIM:604790 skos:exactMatch UMLS:C1423054 Unspecified TAS2R14 +OMIM:604792 skos:exactMatch HGNC_symbol:TAS2R13 Unspecified TAS2R13 +OMIM:604792 skos:exactMatch UMLS:C1423053 Unspecified TAS2R13 +OMIM:604792 skos:exactMatch HGNC:14919 Unspecified TAS2R13 +OMIM:604791 skos:exactMatch HGNC_symbol:TAS2R10 Unspecified TAS2R10 +OMIM:604791 skos:exactMatch UMLS:C1423052 Unspecified TAS2R10 +OMIM:604791 skos:exactMatch HGNC:14918 Unspecified TAS2R10 +OMIM:602130 skos:exactMatch HGNC:6888 Unspecified MAPKAPK3 +OMIM:602130 skos:exactMatch HGNC_symbol:MAPKAPK3 Unspecified MAPKAPK3 +OMIM:602130 skos:exactMatch UMLS:C1417028 Unspecified MAPKAPK3 +OMIM:192100 skos:exactMatch UMLS:C4551488 Unspecified uvula, bifid +OMIM:604794 skos:exactMatch HGNC_symbol:TAS2R8 Unspecified TAS2R8 +OMIM:604794 skos:exactMatch UMLS:C1423050 Unspecified TAS2R8 +OMIM:604794 skos:exactMatch HGNC:14915 Unspecified TAS2R8 +OMIM:602131 skos:exactMatch HGNC_symbol:PHLDA2 Unspecified PHLDA2 +OMIM:602131 skos:exactMatch UMLS:C1335210 Unspecified PHLDA2 +OMIM:602131 skos:exactMatch HGNC:12385 Unspecified PHLDA2 +OMIM:604793 skos:exactMatch HGNC_symbol:TAS2R7 Unspecified TAS2R7 +OMIM:604793 skos:exactMatch HGNC:14913 Unspecified TAS2R7 +OMIM:604793 skos:exactMatch UMLS:C1423049 Unspecified TAS2R7 +OMIM:602132 skos:exactMatch HGNC:18432 Unspecified MIA2 +OMIM:602132 skos:exactMatch HGNC_symbol:MIA2 Unspecified MIA2 +OMIM:602132 skos:exactMatch UMLS:C1425512 Unspecified MIA2 +OMIM:602133 skos:exactMatch HGNC:8863 Unspecified PFAS +OMIM:602133 skos:exactMatch HGNC_symbol:PFAS Unspecified PFAS +OMIM:602133 skos:exactMatch UMLS:C1418481 Unspecified PFAS +OMIM:604796 skos:exactMatch HGNC_symbol:TAS2R1 Unspecified TAS2R1 +OMIM:604796 skos:exactMatch UMLS:C1423045 Unspecified TAS2R1 +OMIM:604796 skos:exactMatch HGNC:14909 Unspecified TAS2R1 +OMIM:604795 skos:exactMatch HGNC_symbol:TAS2R9 Unspecified TAS2R9 +OMIM:604795 skos:exactMatch HGNC:14917 Unspecified TAS2R9 +OMIM:604795 skos:exactMatch UMLS:C1423051 Unspecified TAS2R9 +OMIM:602134 skos:exactMatch UMLS:C1865810 Unspecified tremor, hereditary essential, 2 +OMIM:216330 skos:exactMatch UMLS:C1859080 Unspecified cleidocranial dysplasia, recessive form +OMIM:194450 skos:exactMatch UMLS:C1860230 Unspecified yeast factor +OMIM:216340 skos:exactMatch ORPHA:3472 Unspecified yunis-varon syndrome +OMIM:216340 skos:exactMatch UMLS:C1857663 Unspecified yunis-varon syndrome +OMIM:228300 skos:exactMatch UMLS:C0271582 Unspecified hypogonadotropic hypogonadism 23 with or without anosmia +OMIM:614299 skos:exactMatch UMLS:C3280378 Unspecified multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia +OMIM:614299 skos:exactMatch ORPHA:401874 Unspecified multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia +OMIM:614298 skos:exactMatch UMLS:C3280371 Unspecified neurodegeneration with brain iron accumulation 4 +OMIM:614297 skos:exactMatch HGNC_symbol:C19orf12 Unspecified C19ORF12 +OMIM:614297 skos:exactMatch HGNC:25443 Unspecified C19ORF12 +OMIM:614297 skos:exactMatch UMLS:C1428487 Unspecified C19ORF12 +OMIM:614296 skos:exactMatch UMLS:C3280358 Unspecified wolfram-like syndrome, autosomal dominant +OMIM:614295 skos:exactMatch HGNC_symbol:BICC1 Unspecified BICC1 +OMIM:614295 skos:exactMatch HGNC:19351 Unspecified BICC1 +OMIM:614295 skos:exactMatch UMLS:C1426183 Unspecified BICC1 +OMIM:614294 skos:exactMatch UMLS:C3280355 Unspecified chromosome 15q25 deletion syndrome +OMIM:614293 skos:exactMatch UMLS:C3280352 Unspecified hydatidiform mole, recurrent, 2 +OMIM:614292 skos:exactMatch UMLS:C3280346 Unspecified myopia, high, with cataract and vitreoretinal degeneration +OMIM:614291 skos:exactMatch UMLS:C3280345 Unspecified breast-ovarian cancer, familial, susceptibility to, 4 +OMIM:614290 skos:exactMatch UMLS:C0795868 Unspecified tetrasomy 18p +OMIM:231950 skos:exactMatch UMLS:C0268524 Unspecified glutathionuria +OMIM:194460 skos:exactMatch UMLS:C1412706 Unspecified AZGP1 +OMIM:194460 skos:exactMatch HGNC_symbol:AZGP1 Unspecified AZGP1 +OMIM:194460 skos:exactMatch HGNC:910 Unspecified AZGP1 +OMIM:182450 skos:exactMatch UMLS:C1335871 Unspecified SST +OMIM:182450 skos:exactMatch HGNC_symbol:SST Unspecified SST +OMIM:182450 skos:exactMatch HGNC:11329 Unspecified SST +OMIM:182452 skos:exactMatch UMLS:C1335867 Unspecified SSTR2 +OMIM:182452 skos:exactMatch HGNC:11331 Unspecified SSTR2 +OMIM:182452 skos:exactMatch HGNC_symbol:SSTR2 Unspecified SSTR2 +OMIM:182451 skos:exactMatch UMLS:C1335866 Unspecified SSTR1 +OMIM:182451 skos:exactMatch HGNC:11330 Unspecified SSTR1 +OMIM:182451 skos:exactMatch HGNC_symbol:SSTR1 Unspecified SSTR1 +OMIM:182454 skos:exactMatch UMLS:C1335869 Unspecified SSTR4 +OMIM:182454 skos:exactMatch HGNC:11333 Unspecified SSTR4 +OMIM:182454 skos:exactMatch HGNC_symbol:SSTR4 Unspecified SSTR4 +OMIM:182453 skos:exactMatch UMLS:C1335868 Unspecified SSTR3 +OMIM:182453 skos:exactMatch HGNC:11332 Unspecified SSTR3 +OMIM:182453 skos:exactMatch HGNC_symbol:SSTR3 Unspecified SSTR3 +OMIM:182455 skos:exactMatch HGNC_symbol:SSTR5 Unspecified SSTR5 +OMIM:182455 skos:exactMatch UMLS:C5436944 Unspecified SSTR5 +OMIM:182455 skos:exactMatch UMLS:C1335870 Unspecified SSTR5 +OMIM:182455 skos:exactMatch HGNC:11334 Unspecified SSTR5 +OMIM:614279 skos:exactMatch ORPHA:443087 Unspecified 46,xy sex reversal 8 +OMIM:614279 skos:exactMatch UMLS:C1839840 Unspecified 46,xy sex reversal 8 +OMIM:267900 skos:exactMatch UMLS:C2930961 Unspecified retinal telangiectasia and hypogammaglobulinemia +OMIM:614289 skos:exactMatch HGNC:15897 Unspecified SEL1L2 +OMIM:614289 skos:exactMatch UMLS:C1822672 Unspecified SEL1L2 +OMIM:614289 skos:exactMatch HGNC_symbol:SEL1L2 Unspecified SEL1L2 +OMIM:614288 skos:exactMatch UMLS:C1825826 Unspecified ACAD11 +OMIM:614288 skos:exactMatch HGNC:30211 Unspecified ACAD11 +OMIM:614288 skos:exactMatch HGNC_symbol:ACAD11 Unspecified ACAD11 +OMIM:614287 skos:exactMatch UMLS:C1427245 Unspecified OFCC1 +OMIM:614287 skos:exactMatch HGNC_symbol:OFCC1 Unspecified OFCC1 +OMIM:614287 skos:exactMatch HGNC:21017 Unspecified OFCC1 +OMIM:614286 skos:exactMatch ORPHA:52688 Unspecified myelodysplastic syndrome +OMIM:614286 skos:exactMatch UMLS:C3463824 Unspecified myelodysplastic syndrome +OMIM:614285 skos:exactMatch HGNC:28732 Unspecified C1QTNF9 +OMIM:614285 skos:exactMatch HGNC_symbol:C1QTNF9 Unspecified C1QTNF9 +OMIM:614285 skos:exactMatch UMLS:C1823202 Unspecified C1QTNF9 +OMIM:614284 skos:exactMatch UMLS:C3280342 Unspecified stickler syndrome, iia 5 +OMIM:614283 skos:exactMatch UMLS:C1425732 Unspecified GLCCI1 +OMIM:614283 skos:exactMatch HGNC_symbol:GLCCI1 Unspecified GLCCI1 +OMIM:614283 skos:exactMatch HGNC:18713 Unspecified GLCCI1 +OMIM:614282 skos:exactMatch HGNC_symbol:SDF4 Unspecified SDF4 +OMIM:614282 skos:exactMatch UMLS:C1822659 Unspecified SDF4 +OMIM:614282 skos:exactMatch HGNC:24188 Unspecified SDF4 +OMIM:614281 skos:exactMatch HGNC_symbol:ESAM Unspecified ESAM +OMIM:614281 skos:exactMatch UMLS:C1424976 Unspecified ESAM +OMIM:614281 skos:exactMatch HGNC:17474 Unspecified ESAM +OMIM:614280 skos:exactMatch UMLS:C3280332 Unspecified epilepsy, juvenile myoclonic, susceptibility to, 9 +OMIM:602289 skos:exactMatch UMLS:C1333248 Unspecified DRAP1 +OMIM:602289 skos:exactMatch HGNC:3019 Unspecified DRAP1 +OMIM:602289 skos:exactMatch HGNC_symbol:DRAP1 Unspecified DRAP1 +OMIM:182465 skos:exactMatch UMLS:C1420310 Unspecified SON +OMIM:182465 skos:exactMatch HGNC_symbol:SON Unspecified SON +OMIM:182465 skos:exactMatch HGNC:11183 Unspecified SON +OMIM:216360 skos:exactMatch UMLS:C1857662 Unspecified coach syndrome 1 +OMIM:216360 skos:exactMatch ORPHA:1454 Unspecified coach syndrome 1 +OMIM:216360 skos:exactMatch UMLS:C5435651 Unspecified coach syndrome 1 +OMIM:614269 skos:exactMatch HGNC:23618 Unspecified GPR153 +OMIM:614269 skos:exactMatch UMLS:C1428164 Unspecified GPR153 +OMIM:614269 skos:exactMatch HGNC_symbol:GPR153 Unspecified GPR153 +OMIM:614268 skos:exactMatch HGNC_symbol:ADGRF4 Unspecified ADGRF4 +OMIM:614268 skos:exactMatch UMLS:C1425949 Unspecified ADGRF4 +OMIM:614268 skos:exactMatch HGNC:19011 Unspecified ADGRF4 +OMIM:614278 skos:exactMatch UMLS:C3280315 Unspecified platelet-activating factor acetylhydrolase deficiency +OMIM:231970 skos:exactMatch UMLS:C1856398 Unspecified gluteal muscles, absence of +OMIM:614277 skos:exactMatch HGNC_symbol:UBE2W Unspecified UBE2W +OMIM:614277 skos:exactMatch UMLS:C1823575 Unspecified UBE2W +OMIM:614277 skos:exactMatch HGNC:25616 Unspecified UBE2W +OMIM:614276 skos:exactMatch HGNC:9064 Unspecified PLCL2 +OMIM:614276 skos:exactMatch HGNC_symbol:PLCL2 Unspecified PLCL2 +OMIM:614276 skos:exactMatch UMLS:C1418639 Unspecified PLCL2 +OMIM:614275 skos:exactMatch HGNC_symbol:ZNF565 Unspecified ZNF565 +OMIM:614275 skos:exactMatch UMLS:C1428622 Unspecified ZNF565 +OMIM:614275 skos:exactMatch HGNC:26726 Unspecified ZNF565 +OMIM:614274 skos:exactMatch HGNC:22973 Unspecified SBNO1 +OMIM:614274 skos:exactMatch UMLS:C1427826 Unspecified SBNO1 +OMIM:614274 skos:exactMatch HGNC_symbol:SBNO1 Unspecified SBNO1 +OMIM:614273 skos:exactMatch HGNC:31271 Unspecified OR4C46 +OMIM:614273 skos:exactMatch HGNC_symbol:OR4C46 Unspecified OR4C46 +OMIM:614273 skos:exactMatch UMLS:C1429127 Unspecified OR4C46 +OMIM:602290 skos:exactMatch UMLS:C1424232 Unspecified TRIM32 +OMIM:602290 skos:exactMatch HGNC:16380 Unspecified TRIM32 +OMIM:602290 skos:exactMatch HGNC_symbol:TRIM32 Unspecified TRIM32 +OMIM:614272 skos:exactMatch HGNC:25790 Unspecified FASTKD5 +OMIM:614272 skos:exactMatch HGNC_symbol:FASTKD5 Unspecified FASTKD5 +OMIM:614272 skos:exactMatch UMLS:C1825282 Unspecified FASTKD5 +OMIM:602291 skos:exactMatch UMLS:C1414683 Unspecified FOXJ1 +OMIM:602291 skos:exactMatch HGNC_symbol:FOXJ1 Unspecified FOXJ1 +OMIM:602291 skos:exactMatch UMLS:C5231466 Unspecified FOXJ1 +OMIM:602291 skos:exactMatch UMLS:C5231529 Unspecified FOXJ1 +OMIM:602291 skos:exactMatch UMLS:C5231528 Unspecified FOXJ1 +OMIM:602291 skos:exactMatch HGNC:3816 Unspecified FOXJ1 +OMIM:614271 skos:exactMatch HGNC_symbol:CCDC137 Unspecified CCDC137 +OMIM:614271 skos:exactMatch UMLS:C2240342 Unspecified CCDC137 +OMIM:614271 skos:exactMatch HGNC:33451 Unspecified CCDC137 +OMIM:602292 skos:exactMatch UMLS:C4225391 Unspecified ECHS1 +OMIM:602292 skos:exactMatch HGNC:3151 Unspecified ECHS1 +OMIM:602292 skos:exactMatch UMLS:C1414247 Unspecified ECHS1 +OMIM:602292 skos:exactMatch HGNC_symbol:ECHS1 Unspecified ECHS1 +OMIM:614270 skos:exactMatch HGNC:25325 Unspecified CFAP65 +OMIM:614270 skos:exactMatch UMLS:C5231451 Unspecified CFAP65 +OMIM:614270 skos:exactMatch HGNC_symbol:CFAP65 Unspecified CFAP65 +OMIM:614270 skos:exactMatch UMLS:C1824636 Unspecified CFAP65 +OMIM:602293 skos:exactMatch HGNC:16920 Unspecified CIB1 +OMIM:602293 skos:exactMatch HGNC_symbol:CIB1 Unspecified CIB1 +OMIM:602293 skos:exactMatch UMLS:C1424635 Unspecified CIB1 +OMIM:602294 skos:exactMatch UMLS:C1415626 Unspecified FOXA1 +OMIM:602294 skos:exactMatch HGNC_symbol:FOXA1 Unspecified FOXA1 +OMIM:602294 skos:exactMatch HGNC:5021 Unspecified FOXA1 +OMIM:602295 skos:exactMatch UMLS:C1415628 Unspecified FOXA3 +OMIM:602295 skos:exactMatch HGNC_symbol:FOXA3 Unspecified FOXA3 +OMIM:602295 skos:exactMatch HGNC:5023 Unspecified FOXA3 +OMIM:602296 skos:exactMatch UMLS:C1412454 Unspecified AP4M1 +OMIM:602296 skos:exactMatch HGNC_symbol:AP4M1 Unspecified AP4M1 +OMIM:602296 skos:exactMatch HGNC:574 Unspecified AP4M1 +OMIM:602297 skos:exactMatch UMLS:C1414307 Unspecified EFNB3 +OMIM:602297 skos:exactMatch HGNC:3228 Unspecified EFNB3 +OMIM:602297 skos:exactMatch HGNC_symbol:EFNB3 Unspecified EFNB3 +OMIM:602298 skos:exactMatch HGNC_symbol:RAB7A Unspecified RAB7 +OMIM:602298 skos:exactMatch HGNC:9788 Unspecified RAB7 +OMIM:602298 skos:exactMatch UMLS:C1826758 Unspecified RAB7 +OMIM:243910 skos:exactMatch UMLS:C1855675 Unspecified arima syndrome +OMIM:243910 skos:exactMatch ORPHA:2318 Unspecified arima syndrome +OMIM:204300 skos:exactMatch UMLS:C0022797 Unspecified ceroid lipofuscinosis, neuronal, 6b (kufs type) +OMIM:204300 skos:exactMatch ORPHA:228340 Unspecified ceroid lipofuscinosis, neuronal, 6b (kufs type) +OMIM:204300 skos:exactMatch ORPHA:79262 Unspecified ceroid lipofuscinosis, neuronal, 6b (kufs type) +OMIM:194490 skos:exactMatch UMLS:C1421587 Unspecified zinc finger protein 1 +OMIM:314800 skos:exactMatch UMLS:C3887689 Unspecified xh antigen +OMIM:255900 skos:exactMatch UMLS:C0027145 Unspecified myxedema +OMIM:216300 skos:exactMatch UMLS:C1859081 Unspecified cleft palate, deafness, and oligodontia +OMIM:194470 skos:exactMatch UMLS:C1860228 Unspecified zinc, elevated plasma +OMIM:194470 skos:exactMatch UMLS:C1860229 Unspecified zinc, elevated plasma +OMIM:302802 skos:exactMatch UMLS:C1844865 Unspecified charcot-marie-tooth disease, X-linked recessive, 3 +OMIM:302803 skos:exactMatch UMLS:C1844864 Unspecified charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita +OMIM:302800 skos:exactMatch UMLS:C0393808 Unspecified charcot-marie-tooth disease, X-linked dominant, 1 +OMIM:302801 skos:exactMatch UMLS:C1844873 Unspecified charcot-marie-tooth disease, X-linked recessive, 2 +OMIM:194480 skos:exactMatch HGNC:12861 Unspecified ZFP3 +OMIM:194480 skos:exactMatch UMLS:C1421570 Unspecified ZFP3 +OMIM:194480 skos:exactMatch HGNC_symbol:ZFP3 Unspecified ZFP3 +OMIM:206920 skos:exactMatch UMLS:C0599973 Unspecified microphthalmia with limb anomalies +OMIM:218900 skos:exactMatch UMLS:C0795914 Unspecified crome syndrome +OMIM:121450 skos:exactMatch UMLS:C1852556 Unspecified corneal degeneration, ribbonlike, with deafness +OMIM:231900 skos:exactMatch UMLS:C1856399 Unspecified glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to +OMIM:206900 skos:exactMatch UMLS:C1859774 Unspecified microphthalmia, syndromic 3 +OMIM:206900 skos:exactMatch UMLS:C1859773 Unspecified microphthalmia, syndromic 3 +OMIM:108450 skos:exactMatch UMLS:C1862458 Unspecified asymmetric short stature syndrome +OMIM:121400 skos:exactMatch UMLS:C1852557 Unspecified cornea plana 1, autosomal dominant +OMIM:300273 skos:exactMatch UMLS:C1846033 Unspecified goiter, multinodular 2 +OMIM:300276 skos:exactMatch UMLS:C1539328 Unspecified EDA2R +OMIM:300276 skos:exactMatch HGNC_symbol:EDA2R Unspecified EDA2R +OMIM:300276 skos:exactMatch HGNC:17756 Unspecified EDA2R +OMIM:604811 skos:exactMatch UMLS:C1416857 Unspecified LILRB1 +OMIM:604811 skos:exactMatch HGNC_symbol:LILRB1 Unspecified LILRB1 +OMIM:604811 skos:exactMatch HGNC:6605 Unspecified LILRB1 +OMIM:604810 skos:exactMatch UMLS:C1416854 Unspecified LILRA1 +OMIM:604810 skos:exactMatch HGNC_symbol:LILRA1 Unspecified LILRA1 +OMIM:604810 skos:exactMatch HGNC:6602 Unspecified LILRA1 +OMIM:300275 skos:exactMatch HGNC:13398 Unspecified NSDHL +OMIM:300275 skos:exactMatch UMLS:C1538487 Unspecified NSDHL +OMIM:300275 skos:exactMatch HGNC_symbol:NSDHL Unspecified NSDHL +OMIM:604813 skos:exactMatch HGNC:2264 Unspecified COX17 +OMIM:604813 skos:exactMatch UMLS:C1413633 Unspecified COX17 +OMIM:604813 skos:exactMatch HGNC_symbol:COX17 Unspecified COX17 +OMIM:300278 skos:exactMatch HGNC_symbol:NYX Unspecified NYX +OMIM:300278 skos:exactMatch UMLS:C1417909 Unspecified NYX +OMIM:300278 skos:exactMatch HGNC:8082 Unspecified NYX +OMIM:604812 skos:exactMatch UMLS:C1416855 Unspecified LILRA2 +OMIM:604812 skos:exactMatch HGNC_symbol:LILRA2 Unspecified LILRA2 +OMIM:604812 skos:exactMatch HGNC:6603 Unspecified LILRA2 +OMIM:300277 skos:exactMatch HGNC_symbol:IL1RAPL2 Unspecified IL1RAPL2 +OMIM:300277 skos:exactMatch HGNC:5997 Unspecified IL1RAPL2 +OMIM:300277 skos:exactMatch UMLS:C1416399 Unspecified IL1RAPL2 +OMIM:604815 skos:exactMatch HGNC:6606 Unspecified LILRB2 +OMIM:604815 skos:exactMatch UMLS:C1416858 Unspecified LILRB2 +OMIM:604815 skos:exactMatch HGNC_symbol:LILRB2 Unspecified LILRB2 +OMIM:604814 skos:exactMatch HGNC:6609 Unspecified LILRB5 +OMIM:604814 skos:exactMatch UMLS:C1416861 Unspecified LILRB5 +OMIM:604814 skos:exactMatch HGNC_symbol:LILRB5 Unspecified LILRB5 +OMIM:604817 skos:exactMatch HGNC_symbol:CHST5 Unspecified CHST5 +OMIM:604817 skos:exactMatch HGNC:1973 Unspecified CHST5 +OMIM:604817 skos:exactMatch UMLS:C1413418 Unspecified CHST5 +OMIM:604819 skos:exactMatch HGNC:17042 Unspecified PUF60 +OMIM:604819 skos:exactMatch UMLS:C3810023 Unspecified PUF60 +OMIM:604819 skos:exactMatch HGNC_symbol:PUF60 Unspecified PUF60 +OMIM:604819 skos:exactMatch UMLS:C1858105 Unspecified PUF60 +OMIM:604818 skos:exactMatch HGNC:6604 Unspecified LILRA3 +OMIM:604818 skos:exactMatch UMLS:C1416856 Unspecified LILRA3 +OMIM:604818 skos:exactMatch HGNC_symbol:LILRA3 Unspecified LILRA3 +OMIM:300281 skos:exactMatch UMLS:C1416560 Unspecified KCND1 +OMIM:300281 skos:exactMatch HGNC_symbol:KCND1 Unspecified KCND1 +OMIM:300281 skos:exactMatch HGNC:6237 Unspecified KCND1 +OMIM:300280 skos:exactMatch UMLS:C1846010 Unspecified uruguay faciocardiomusculoskeletal syndrome +OMIM:300283 skos:exactMatch UMLS:C1334134 Unspecified IRAK1 +OMIM:300283 skos:exactMatch HGNC_symbol:IRAK1 Unspecified IRAK1 +OMIM:300283 skos:exactMatch HGNC:6112 Unspecified IRAK1 +OMIM:300282 skos:exactMatch HGNC:2259 Unspecified ENOX2 +OMIM:300282 skos:exactMatch HGNC_symbol:ENOX2 Unspecified ENOX2 +OMIM:300282 skos:exactMatch UMLS:C1413628 Unspecified ENOX2 +OMIM:300285 skos:exactMatch UMLS:C1422400 Unspecified RAB9B +OMIM:300285 skos:exactMatch HGNC_symbol:RAB9B Unspecified RAB9B +OMIM:300285 skos:exactMatch HGNC:14090 Unspecified RAB9B +OMIM:300284 skos:exactMatch HGNC_symbol:RAB9A Unspecified RAB9 +OMIM:300284 skos:exactMatch HGNC:9792 Unspecified RAB9 +OMIM:300284 skos:exactMatch UMLS:C1419219 Unspecified RAB9 +OMIM:300287 skos:exactMatch HGNC:4108 Unspecified PAGE4 +OMIM:300287 skos:exactMatch HGNC_symbol:PAGE4 Unspecified PAGE4 +OMIM:300287 skos:exactMatch UMLS:C1538569 Unspecified PAGE4 +OMIM:604800 skos:exactMatch UMLS:C1424988 Unspecified HOMER3 +OMIM:604800 skos:exactMatch HGNC_symbol:HOMER3 Unspecified HOMER3 +OMIM:604800 skos:exactMatch HGNC:17514 Unspecified HOMER3 +OMIM:300286 skos:exactMatch UMLS:C1416663 Unspecified KLF8 +OMIM:300286 skos:exactMatch HGNC_symbol:KLF8 Unspecified KLF8 +OMIM:300286 skos:exactMatch HGNC:6351 Unspecified KLF8 +OMIM:604802 skos:exactMatch ORPHA:157946 Unspecified huntington disease-like 3 +OMIM:604802 skos:exactMatch UMLS:C1858114 Unspecified huntington disease-like 3 +OMIM:300289 skos:exactMatch HGNC:25400 Unspecified XAGE1B +OMIM:300289 skos:exactMatch UMLS:C1538118 Unspecified XAGE1B +OMIM:300289 skos:exactMatch HGNC_symbol:XAGE1B Unspecified XAGE1B +OMIM:300288 skos:exactMatch HGNC_symbol:PAGE1 Unspecified PAGE1 +OMIM:300288 skos:exactMatch UMLS:C1538566 Unspecified PAGE1 +OMIM:300288 skos:exactMatch HGNC:4107 Unspecified PAGE1 +OMIM:604801 skos:exactMatch UMLS:C1858118 Unspecified muscular dystrophy, congenital, 1b +OMIM:604804 skos:exactMatch UMLS:C1858108 Unspecified microcephaly 3, primary, autosomal recessive +OMIM:604803 skos:exactMatch HGNC_symbol:DOP1B Unspecified DOP1B +OMIM:604803 skos:exactMatch HGNC:1291 Unspecified DOP1B +OMIM:604803 skos:exactMatch UMLS:C1876213 Unspecified DOP1B +OMIM:604806 skos:exactMatch HGNC_symbol:FLRT1 Unspecified FLRT1 +OMIM:604806 skos:exactMatch HGNC:3760 Unspecified FLRT1 +OMIM:604806 skos:exactMatch UMLS:C1414640 Unspecified FLRT1 +OMIM:604805 skos:exactMatch UMLS:C1858106 Unspecified spastic paraplegia 12, autosomal dominant +OMIM:604808 skos:exactMatch UMLS:C1333566 Unspecified FLRT3 +OMIM:604808 skos:exactMatch HGNC_symbol:FLRT3 Unspecified FLRT3 +OMIM:604808 skos:exactMatch HGNC:3762 Unspecified FLRT3 +OMIM:604807 skos:exactMatch HGNC_symbol:FLRT2 Unspecified FLRT2 +OMIM:604807 skos:exactMatch HGNC:3761 Unspecified FLRT2 +OMIM:604807 skos:exactMatch UMLS:C1414641 Unspecified FLRT2 +OMIM:604809 skos:exactMatch UMLS:C0878555 Unspecified panbronchiolitis, diffuse +OMIM:300292 skos:exactMatch UMLS:C0342288 Unspecified FOXP3 +OMIM:300292 skos:exactMatch UMLS:C1416467 Unspecified FOXP3 +OMIM:300292 skos:exactMatch HGNC:6106 Unspecified FOXP3 +OMIM:300292 skos:exactMatch HGNC_symbol:FOXP3 Unspecified FOXP3 +OMIM:300291 skos:exactMatch UMLS:C1846006 Unspecified ectodermal dysplasia and immunodeficiency 1 +OMIM:300291 skos:exactMatch UMLS:C1846008 Unspecified ectodermal dysplasia and immunodeficiency 1 +OMIM:300291 skos:exactMatch ORPHA:69088 Unspecified ectodermal dysplasia and immunodeficiency 1 +OMIM:300291 skos:exactMatch UMLS:C1845919 Unspecified ectodermal dysplasia and immunodeficiency 1 +OMIM:300291 skos:exactMatch ORPHA:238468 Unspecified ectodermal dysplasia and immunodeficiency 1 +OMIM:300291 skos:exactMatch ORPHA:98813 Unspecified ectodermal dysplasia and immunodeficiency 1 +OMIM:300294 skos:exactMatch UMLS:C5399971 Unspecified MBTPS2 +OMIM:300294 skos:exactMatch HGNC:15455 Unspecified MBTPS2 +OMIM:300294 skos:exactMatch UMLS:C4746956 Unspecified MBTPS2 +OMIM:300294 skos:exactMatch HGNC_symbol:MBTPS2 Unspecified MBTPS2 +OMIM:300294 skos:exactMatch UMLS:C3806745 Unspecified MBTPS2 +OMIM:300294 skos:exactMatch UMLS:C1423501 Unspecified MBTPS2 +OMIM:300294 skos:exactMatch UMLS:C3887525 Unspecified MBTPS2 +OMIM:300252 skos:exactMatch HGNC:8992 Unspecified PIN4 +OMIM:300252 skos:exactMatch HGNC_symbol:PIN4 Unspecified PIN4 +OMIM:300252 skos:exactMatch UMLS:C1418586 Unspecified PIN4 +OMIM:300254 skos:exactMatch HGNC:11479 Unspecified SUV39H1 +OMIM:300254 skos:exactMatch HGNC_symbol:SUV39H1 Unspecified SUV39H1 +OMIM:300254 skos:exactMatch UMLS:C1420532 Unspecified SUV39H1 +OMIM:300253 skos:exactMatch UMLS:C1539609 Unspecified GPR173 +OMIM:300253 skos:exactMatch HGNC_symbol:GPR173 Unspecified GPR173 +OMIM:300253 skos:exactMatch HGNC:18186 Unspecified GPR173 +OMIM:300256 skos:exactMatch HGNC_symbol:HSD17B10 Unspecified HSD17B10 +OMIM:300256 skos:exactMatch HGNC:4800 Unspecified HSD17B10 +OMIM:300256 skos:exactMatch UMLS:C1825528 Unspecified HSD17B10 +OMIM:300255 skos:exactMatch HGNC_symbol:OGT Unspecified OGT +OMIM:300255 skos:exactMatch UMLS:C1417945 Unspecified OGT +OMIM:300255 skos:exactMatch HGNC:8127 Unspecified OGT +OMIM:300257 skos:exactMatch ORPHA:34587 Unspecified danon disease +OMIM:300257 skos:exactMatch UMLS:C0878677 Unspecified danon disease +OMIM:300259 skos:exactMatch UMLS:C1866629 Unspecified mycobacterium tuberculosis, susceptibility to, X-linked +OMIM:300261 skos:exactMatch ORPHA:85276 Unspecified intellectual developmental disorder, x-linked, syndromic, armfield iia +OMIM:300261 skos:exactMatch UMLS:C1846057 Unspecified intellectual developmental disorder, x-linked, syndromic, armfield iia +OMIM:300260 skos:exactMatch UMLS:C1846058 Unspecified intellectual developmental disorder, x-linked, syndromic, lubs iia +OMIM:300263 skos:exactMatch ORPHA:85287 Unspecified intellectual developmental disorder, x-linked, syndromic, siderius iia +OMIM:300263 skos:exactMatch UMLS:C1846055 Unspecified intellectual developmental disorder, x-linked, syndromic, siderius iia +OMIM:300262 skos:exactMatch UMLS:C1846056 Unspecified intellectual developmental disorder, x-linked, syndromic, abidi iia +OMIM:300265 skos:exactMatch HGNC_symbol:ZIC3 Unspecified ZIC3 +OMIM:300265 skos:exactMatch UMLS:C1844020 Unspecified ZIC3 +OMIM:300265 skos:exactMatch UMLS:C4016468 Unspecified ZIC3 +OMIM:300265 skos:exactMatch HGNC:12874 Unspecified ZIC3 +OMIM:300265 skos:exactMatch UMLS:C4015968 Unspecified ZIC3 +OMIM:300265 skos:exactMatch UMLS:C3151867 Unspecified ZIC3 +OMIM:300265 skos:exactMatch UMLS:C1421583 Unspecified ZIC3 +OMIM:300264 skos:exactMatch HGNC:12509 Unspecified UBQLN2 +OMIM:300264 skos:exactMatch HGNC_symbol:UBQLN2 Unspecified UBQLN2 +OMIM:300264 skos:exactMatch UMLS:C1421305 Unspecified UBQLN2 +OMIM:300267 skos:exactMatch UMLS:C1412531 Unspecified ARHGEF6 +OMIM:300267 skos:exactMatch HGNC:685 Unspecified ARHGEF6 +OMIM:300267 skos:exactMatch HGNC_symbol:ARHGEF6 Unspecified ARHGEF6 +OMIM:300266 skos:exactMatch UMLS:C1846046 Unspecified spastic paraplegia 16, X-linked +OMIM:300269 skos:exactMatch HGNC:13315 Unspecified HDAC8 +OMIM:300269 skos:exactMatch HGNC_symbol:HDAC8 Unspecified HDAC8 +OMIM:300269 skos:exactMatch UMLS:C1421934 Unspecified HDAC8 +OMIM:300270 skos:exactMatch UMLS:C1846044 Unspecified adrenomyodystrophy +OMIM:300272 skos:exactMatch UMLS:C1333895 Unspecified HDAC6 +OMIM:300272 skos:exactMatch HGNC_symbol:HDAC6 Unspecified HDAC6 +OMIM:300272 skos:exactMatch UMLS:C3275476 Unspecified HDAC6 +OMIM:300272 skos:exactMatch HGNC:14064 Unspecified HDAC6 +OMIM:300271 skos:exactMatch UMLS:C1846038 Unspecified intellectual developmental disorder, X-linked 72 +OMIM:604853 skos:exactMatch HGNC:14484 Unspecified MRPL28 +OMIM:604853 skos:exactMatch HGNC_symbol:MRPL28 Unspecified MRPL28 +OMIM:604853 skos:exactMatch UMLS:C1422690 Unspecified MRPL28 +OMIM:604852 skos:exactMatch UMLS:C1332816 Unspecified CXCL11 +OMIM:604852 skos:exactMatch HGNC:10638 Unspecified CXCL11 +OMIM:604852 skos:exactMatch HGNC_symbol:CXCL11 Unspecified CXCL11 +OMIM:604855 skos:exactMatch UMLS:C1858083 Unspecified hyaluronan metabolism, defect 1n +OMIM:604854 skos:exactMatch HGNC:6069 Unspecified INMT +OMIM:604854 skos:exactMatch HGNC_symbol:INMT Unspecified INMT +OMIM:604854 skos:exactMatch UMLS:C1416439 Unspecified INMT +OMIM:604857 skos:exactMatch UMLS:C1420408 Unspecified SRP54 +OMIM:604857 skos:exactMatch UMLS:C5203411 Unspecified SRP54 +OMIM:604857 skos:exactMatch HGNC:11301 Unspecified SRP54 +OMIM:604857 skos:exactMatch HGNC_symbol:SRP54 Unspecified SRP54 +OMIM:604856 skos:exactMatch UMLS:C0019621 Unspecified langerhans cell histiocytosis +OMIM:604859 skos:exactMatch HGNC_symbol:LMCD1 Unspecified LMCD1 +OMIM:604859 skos:exactMatch UMLS:C1416876 Unspecified LMCD1 +OMIM:604859 skos:exactMatch HGNC:6633 Unspecified LMCD1 +OMIM:604858 skos:exactMatch UMLS:C1420409 Unspecified SRP68 +OMIM:604858 skos:exactMatch HGNC:11302 Unspecified SRP68 +OMIM:604858 skos:exactMatch HGNC_symbol:SRP68 Unspecified SRP68 +OMIM:253280 skos:exactMatch UMLS:C3151519 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 +OMIM:253280 skos:exactMatch ORPHA:588 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 +OMIM:253280 skos:exactMatch ORPHA:899 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 +OMIM:616840 skos:exactMatch ORPHA:2828 Unspecified parkinson disease 23, autosomal recessive early-onset +OMIM:616840 skos:exactMatch UMLS:C4225186 Unspecified parkinson disease 23, autosomal recessive early-onset +OMIM:616841 skos:exactMatch UMLS:C1823979 Unspecified ZNF468 +OMIM:616841 skos:exactMatch HGNC:33105 Unspecified ZNF468 +OMIM:616841 skos:exactMatch HGNC_symbol:ZNF468 Unspecified ZNF468 +OMIM:616831 skos:exactMatch UMLS:C4085873 Unspecified luscan-lumish syndrome +OMIM:616832 skos:exactMatch HGNC_symbol:MYOM3 Unspecified MYOM3 +OMIM:616832 skos:exactMatch HGNC:26679 Unspecified MYOM3 +OMIM:616832 skos:exactMatch UMLS:C1538031 Unspecified MYOM3 +OMIM:616833 skos:exactMatch UMLS:C4085250 Unspecified paget disease of bone 6 +OMIM:616834 skos:exactMatch UMLS:C4225189 Unspecified microcephaly, congenital cataract, and psoriasiform dermatitis +OMIM:253270 skos:exactMatch UMLS:C0268581 Unspecified holocarboxylase synthetase deficiency +OMIM:616835 skos:exactMatch ORPHA:2554 Unspecified meier-gorlin syndrome 6 +OMIM:616835 skos:exactMatch UMLS:C4225188 Unspecified meier-gorlin syndrome 6 +OMIM:145400 skos:exactMatch UMLS:C0020534 Unspecified hypertelorism +OMIM:616836 skos:exactMatch HGNC_symbol:GPATCH2 Unspecified GPATCH2 +OMIM:616836 skos:exactMatch HGNC:25499 Unspecified GPATCH2 +OMIM:616836 skos:exactMatch UMLS:C1539595 Unspecified GPATCH2 +OMIM:616837 skos:exactMatch UMLS:C4225447 Unspecified None +OMIM:616838 skos:exactMatch HGNC_symbol:CLEC17A Unspecified CLEC17A +OMIM:616838 skos:exactMatch HGNC:34520 Unspecified CLEC17A +OMIM:616838 skos:exactMatch UMLS:C2681363 Unspecified CLEC17A +OMIM:616839 skos:exactMatch UMLS:C4225187 Unspecified exercise intolerance, riboflavin-responsive +OMIM:604860 skos:exactMatch HGNC:6819 Unspecified MALT1 +OMIM:604860 skos:exactMatch HGNC_symbol:MALT1 Unspecified MALT1 +OMIM:604860 skos:exactMatch UMLS:C3809583 Unspecified MALT1 +OMIM:604860 skos:exactMatch UMLS:C1416991 Unspecified MALT1 +OMIM:604862 skos:exactMatch UMLS:C1425189 Unspecified CD207 +OMIM:604862 skos:exactMatch HGNC_symbol:CD207 Unspecified CD207 +OMIM:604862 skos:exactMatch HGNC:17935 Unspecified CD207 +OMIM:604861 skos:exactMatch UMLS:C1334331 Unspecified LATS2 +OMIM:604861 skos:exactMatch HGNC:6515 Unspecified LATS2 +OMIM:604861 skos:exactMatch HGNC_symbol:LATS2 Unspecified LATS2 +OMIM:602200 skos:exactMatch UMLS:C1865780 Unspecified ventriculomegaly with defects of the radius and kidney +OMIM:604842 skos:exactMatch HGNC:10967 Unspecified SLC22A3 +OMIM:604842 skos:exactMatch HGNC_symbol:SLC22A3 Unspecified SLC22A3 +OMIM:604842 skos:exactMatch UMLS:C1420138 Unspecified SLC22A3 +OMIM:604841 skos:exactMatch UMLS:C1858084 Unspecified stickler syndrome, iia 2 +OMIM:604844 skos:exactMatch UMLS:C1415726 Unspecified HS2ST1 +OMIM:604844 skos:exactMatch HGNC:5193 Unspecified HS2ST1 +OMIM:604844 skos:exactMatch HGNC_symbol:HS2ST1 Unspecified HS2ST1 +OMIM:604843 skos:exactMatch HGNC:10959 Unspecified SLCO1B1 +OMIM:604843 skos:exactMatch HGNC_symbol:SLCO1B1 Unspecified SLCO1B1 +OMIM:604843 skos:exactMatch UMLS:C1420131 Unspecified SLCO1B1 +OMIM:604846 skos:exactMatch UMLS:C1415734 Unspecified HS6ST1 +OMIM:604846 skos:exactMatch HGNC_symbol:HS6ST1 Unspecified HS6ST1 +OMIM:604846 skos:exactMatch HGNC:5201 Unspecified HS6ST1 +OMIM:604845 skos:exactMatch HGNC:8637 Unspecified PCA3 +OMIM:604845 skos:exactMatch HGNC_symbol:PCA3 Unspecified PCA3 +OMIM:604845 skos:exactMatch UMLS:C1418289 Unspecified PCA3 +OMIM:133430 skos:exactMatch HGNC:3467 Unspecified ESR1 +OMIM:133430 skos:exactMatch UMLS:C3809250 Unspecified ESR1 +OMIM:133430 skos:exactMatch UMLS:C1414461 Unspecified ESR1 +OMIM:133430 skos:exactMatch HGNC_symbol:ESR1 Unspecified ESR1 +OMIM:133430 skos:exactMatch UMLS:C4016038 Unspecified ESR1 +OMIM:133430 skos:exactMatch UMLS:C4016037 Unspecified ESR1 +OMIM:133430 skos:exactMatch UMLS:C1832662 Unspecified ESR1 +OMIM:604847 skos:exactMatch UMLS:C1415219 Unspecified GPR26 +OMIM:604847 skos:exactMatch HGNC_symbol:GPR26 Unspecified GPR26 +OMIM:604847 skos:exactMatch HGNC:4481 Unspecified GPR26 +OMIM:604849 skos:exactMatch HGNC:4514 Unspecified TAAR2 +OMIM:604849 skos:exactMatch UMLS:C1539909 Unspecified TAAR2 +OMIM:604849 skos:exactMatch HGNC_symbol:TAAR2 Unspecified TAAR2 +OMIM:133435 skos:exactMatch UMLS:C1539715 Unspecified RUNX1T1 +OMIM:133435 skos:exactMatch HGNC_symbol:RUNX1T1 Unspecified RUNX1T1 +OMIM:133435 skos:exactMatch HGNC:1535 Unspecified RUNX1T1 +OMIM:133435 skos:exactMatch UMLS:C1851466 Unspecified RUNX1T1 +OMIM:253290 skos:exactMatch UMLS:C1854678 Unspecified multiple pterygium syndrome, lethal iia +OMIM:616830 skos:exactMatch UMLS:C1824506 Unspecified TANGO2 +OMIM:616830 skos:exactMatch HGNC_symbol:TANGO2 Unspecified TANGO2 +OMIM:616830 skos:exactMatch HGNC:25439 Unspecified TANGO2 +OMIM:616820 skos:exactMatch HGNC_symbol:MTHFSD Unspecified MTHFSD +OMIM:616820 skos:exactMatch HGNC:25778 Unspecified MTHFSD +OMIM:616820 skos:exactMatch UMLS:C1826324 Unspecified MTHFSD +OMIM:616821 skos:exactMatch HGNC:17754 Unspecified THSD1 +OMIM:616821 skos:exactMatch UMLS:C1425063 Unspecified THSD1 +OMIM:616821 skos:exactMatch HGNC_symbol:THSD1 Unspecified THSD1 +OMIM:616821 skos:exactMatch UMLS:C5231484 Unspecified THSD1 +OMIM:616822 skos:exactMatch HGNC:29177 Unspecified MON2 +OMIM:616822 skos:exactMatch HGNC_symbol:MON2 Unspecified MON2 +OMIM:616822 skos:exactMatch UMLS:C1826264 Unspecified MON2 +OMIM:616823 skos:exactMatch HGNC:21194 Unspecified DOP1A +OMIM:616823 skos:exactMatch UMLS:C1824958 Unspecified DOP1A +OMIM:616823 skos:exactMatch HGNC_symbol:DOP1A Unspecified DOP1A +OMIM:145410 skos:exactMatch UMLS:C1801950 Unspecified +OMIM:616824 skos:exactMatch HGNC:34348 Unspecified TRNP1 +OMIM:616824 skos:exactMatch HGNC_symbol:TRNP1 Unspecified TRNP1 +OMIM:616824 skos:exactMatch UMLS:C2681079 Unspecified TRNP1 +OMIM:616825 skos:exactMatch HGNC_symbol:NCOA5 Unspecified NCOA5 +OMIM:616825 skos:exactMatch HGNC:15909 Unspecified NCOA5 +OMIM:616825 skos:exactMatch UMLS:C1334869 Unspecified NCOA5 +OMIM:616826 skos:exactMatch UMLS:C1428396 Unspecified EPS15L1 +OMIM:616826 skos:exactMatch HGNC_symbol:EPS15L1 Unspecified EPS15L1 +OMIM:616826 skos:exactMatch HGNC:24634 Unspecified EPS15L1 +OMIM:616827 skos:exactMatch UMLS:C4225192 Unspecified muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue +OMIM:616828 skos:exactMatch UMLS:C4225191 Unspecified congenital disorder of glycosylation, iia iio +OMIM:616829 skos:exactMatch UMLS:C4225190 Unspecified congenital disorder of glycosylation, iia iip +OMIM:108500 skos:exactMatch UMLS:C1720416 Unspecified episodic ataxia, iia 2 +OMIM:604851 skos:exactMatch HGNC_symbol:GRSF1 Unspecified GRSF1 +OMIM:604851 skos:exactMatch HGNC:4610 Unspecified GRSF1 +OMIM:604851 skos:exactMatch UMLS:C1415315 Unspecified GRSF1 +OMIM:604850 skos:exactMatch HGNC_symbol:COPS5 Unspecified COPS5 +OMIM:604850 skos:exactMatch UMLS:C1413614 Unspecified COPS5 +OMIM:604850 skos:exactMatch HGNC:2240 Unspecified COPS5 +OMIM:604831 skos:exactMatch HGNC:3497 Unspecified EVC +OMIM:604831 skos:exactMatch UMLS:C1414479 Unspecified EVC +OMIM:604831 skos:exactMatch HGNC_symbol:EVC Unspecified EVC +OMIM:300296 skos:exactMatch UMLS:C1418628 Unspecified PLAC1 +OMIM:300296 skos:exactMatch HGNC:9044 Unspecified PLAC1 +OMIM:300296 skos:exactMatch HGNC_symbol:PLAC1 Unspecified PLAC1 +OMIM:300295 skos:exactMatch HGNC_symbol:PIM2 Unspecified PIM2 +OMIM:300295 skos:exactMatch UMLS:C1418581 Unspecified PIM2 +OMIM:300295 skos:exactMatch HGNC:8987 Unspecified PIM2 +OMIM:604830 skos:exactMatch UMLS:C1858101 Unspecified mandibulofacial dysostosis syndrome, bauru iia +OMIM:300298 skos:exactMatch HGNC:20439 Unspecified UPF3B +OMIM:300298 skos:exactMatch HGNC_symbol:UPF3B Unspecified UPF3B +OMIM:300298 skos:exactMatch UMLS:C1426937 Unspecified UPF3B +OMIM:604833 skos:exactMatch HGNC:10626 Unspecified CCL27 +OMIM:604833 skos:exactMatch UMLS:C1366566 Unspecified CCL27 +OMIM:604833 skos:exactMatch HGNC_symbol:CCL27 Unspecified CCL27 +OMIM:300297 skos:exactMatch HGNC_symbol:APLN Unspecified APLN +OMIM:300297 skos:exactMatch UMLS:C1538915 Unspecified APLN +OMIM:300297 skos:exactMatch HGNC:16665 Unspecified APLN +OMIM:604832 skos:exactMatch HGNC_symbol:CA14 Unspecified CA14 +OMIM:604832 skos:exactMatch HGNC:1372 Unspecified CA14 +OMIM:604832 skos:exactMatch UMLS:C1413042 Unspecified CA14 +OMIM:604835 skos:exactMatch HGNC:3067 Unspecified DUSP12 +OMIM:604835 skos:exactMatch UMLS:C1414183 Unspecified DUSP12 +OMIM:604835 skos:exactMatch HGNC_symbol:DUSP12 Unspecified DUSP12 +OMIM:300299 skos:exactMatch UMLS:C1845987 Unspecified neutropenia, severe congenital, X-linked +OMIM:604834 skos:exactMatch HGNC_symbol:TBK1 Unspecified TBK1 +OMIM:604834 skos:exactMatch UMLS:C1336579 Unspecified TBK1 +OMIM:604834 skos:exactMatch HGNC:11584 Unspecified TBK1 +OMIM:604837 skos:exactMatch HGNC:4502 Unspecified PTGDR2 +OMIM:604837 skos:exactMatch UMLS:C1415238 Unspecified PTGDR2 +OMIM:604837 skos:exactMatch HGNC_symbol:PTGDR2 Unspecified PTGDR2 +OMIM:133440 skos:exactMatch HGNC:3287 Unspecified EIF4E +OMIM:133440 skos:exactMatch UMLS:C1414351 Unspecified EIF4E +OMIM:133440 skos:exactMatch HGNC_symbol:EIF4E Unspecified EIF4E +OMIM:604836 skos:exactMatch HGNC_symbol:CCR4 Unspecified CCR4 +OMIM:604836 skos:exactMatch UMLS:C1413190 Unspecified CCR4 +OMIM:604836 skos:exactMatch HGNC:1605 Unspecified CCR4 +OMIM:604839 skos:exactMatch HGNC:3722 Unspecified FKBP6 +OMIM:604839 skos:exactMatch UMLS:C1414628 Unspecified FKBP6 +OMIM:604839 skos:exactMatch HGNC_symbol:FKBP6 Unspecified FKBP6 +OMIM:604838 skos:exactMatch HGNC:4503 Unspecified GPR45 +OMIM:604838 skos:exactMatch UMLS:C1415239 Unspecified GPR45 +OMIM:604838 skos:exactMatch HGNC_symbol:GPR45 Unspecified GPR45 +OMIM:616810 skos:exactMatch HGNC_symbol:IGDCC4 Unspecified IGDCC4 +OMIM:616810 skos:exactMatch UMLS:C2681610 Unspecified IGDCC4 +OMIM:616810 skos:exactMatch HGNC:13770 Unspecified IGDCC4 +OMIM:616811 skos:exactMatch UMLS:C4225200 Unspecified combined oxidative phosphorylation deficiency 29 +OMIM:616812 skos:exactMatch UMLS:C4225199 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 25 +OMIM:616813 skos:exactMatch HGNC_symbol:AGAP3 Unspecified AGAP3 +OMIM:616813 skos:exactMatch HGNC:16923 Unspecified AGAP3 +OMIM:616813 skos:exactMatch UMLS:C2681666 Unspecified AGAP3 +OMIM:616813 skos:exactMatch UMLS:C4225198 Unspecified AGAP3 +OMIM:616814 skos:exactMatch UMLS:C4225197 Unspecified preimplantation embryonic lethality 1 +OMIM:616815 skos:exactMatch HGNC:18085 Unspecified TMEM199 +OMIM:616815 skos:exactMatch UMLS:C1425293 Unspecified TMEM199 +OMIM:616815 skos:exactMatch HGNC_symbol:TMEM199 Unspecified TMEM199 +OMIM:253250 skos:exactMatch UMLS:C0524582 Unspecified mulibrey nanism +OMIM:616816 skos:exactMatch UMLS:C4225196 Unspecified hypotonia, infantile, with psychomotor retardation +OMIM:145420 skos:exactMatch UMLS:C0796179 Unspecified teebi hypertelorism syndrome 1 +OMIM:145420 skos:exactMatch ORPHA:1519 Unspecified teebi hypertelorism syndrome 1 +OMIM:616817 skos:exactMatch UMLS:C4225195 Unspecified microcephaly, short stature, and impaired glucose metabolism 2 +OMIM:616818 skos:exactMatch UMLS:C4225194 Unspecified iga nephropathy, susceptibility to, 3 +OMIM:616819 skos:exactMatch UMLS:C4225193 Unspecified corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia +OMIM:604840 skos:exactMatch UMLS:C1414630 Unspecified FKBP8 +OMIM:604840 skos:exactMatch HGNC_symbol:FKBP8 Unspecified FKBP8 +OMIM:604840 skos:exactMatch HGNC:3724 Unspecified FKBP8 +OMIM:133450 skos:exactMatch HGNC:3508 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C0808901 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C1854595 Unspecified EWSR1 +OMIM:133450 skos:exactMatch HGNC_symbol:EWSR1 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C1852404 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C1851465 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C1851464 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C3274610 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C3274643 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C3274636 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C2677452 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C3151207 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C1860425 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C2675457 Unspecified EWSR1 +OMIM:133450 skos:exactMatch UMLS:C2675456 Unspecified EWSR1 +OMIM:604820 skos:exactMatch UMLS:C1416859 Unspecified LILRB3 +OMIM:604820 skos:exactMatch HGNC_symbol:LILRB3 Unspecified LILRB3 +OMIM:604820 skos:exactMatch HGNC:6607 Unspecified LILRB3 +OMIM:604822 skos:exactMatch HGNC:1478 Unspecified CAPN11 +OMIM:604822 skos:exactMatch UMLS:C1413111 Unspecified CAPN11 +OMIM:604822 skos:exactMatch HGNC_symbol:CAPN11 Unspecified CAPN11 +OMIM:604821 skos:exactMatch UMLS:C1416860 Unspecified LILRB4 +OMIM:604821 skos:exactMatch HGNC_symbol:LILRB4 Unspecified LILRB4 +OMIM:604821 skos:exactMatch HGNC:6608 Unspecified LILRB4 +OMIM:604824 skos:exactMatch UMLS:C1416656 Unspecified KL +OMIM:604824 skos:exactMatch HGNC_symbol:KL Unspecified KL +OMIM:604824 skos:exactMatch HGNC:6344 Unspecified KL +OMIM:604823 skos:exactMatch HGNC_symbol:BARX2 Unspecified BARX2 +OMIM:604823 skos:exactMatch HGNC:956 Unspecified BARX2 +OMIM:604823 skos:exactMatch UMLS:C1412738 Unspecified BARX2 +OMIM:604826 skos:exactMatch HGNC_symbol:FEZ2 Unspecified FEZ2 +OMIM:604826 skos:exactMatch HGNC:3660 Unspecified FEZ2 +OMIM:604826 skos:exactMatch UMLS:C1414591 Unspecified FEZ2 +OMIM:157400 skos:exactMatch UMLS:C0343079 Unspecified milia, multiple eruptive +OMIM:604825 skos:exactMatch HGNC_symbol:FEZ1 Unspecified FEZ1 +OMIM:604825 skos:exactMatch HGNC:3659 Unspecified FEZ1 +OMIM:604825 skos:exactMatch UMLS:C1414590 Unspecified FEZ1 +OMIM:604828 skos:exactMatch HGNC_symbol:XCL2 Unspecified XCL2 +OMIM:604828 skos:exactMatch HGNC:10646 Unspecified XCL2 +OMIM:604828 skos:exactMatch UMLS:C1337028 Unspecified XCL2 +OMIM:604827 skos:exactMatch UMLS:C3887932 Unspecified epilepsy, idiopathic generalized, susceptibility to, 7 +OMIM:604827 skos:exactMatch UMLS:C2751729 Unspecified epilepsy, idiopathic generalized, susceptibility to, 7 +OMIM:604829 skos:exactMatch HGNC:3045 Unspecified DSCR4 +OMIM:604829 skos:exactMatch HGNC_symbol:DSCR4 Unspecified DSCR4 +OMIM:604829 skos:exactMatch UMLS:C1414165 Unspecified DSCR4 +OMIM:616800 skos:exactMatch UMLS:C4225204 Unspecified LOXL1AS1 +OMIM:616800 skos:exactMatch HGNC:44169 Unspecified LOXL1AS1 +OMIM:616800 skos:exactMatch HGNC_symbol:LOXL1-AS1 Unspecified LOXL1AS1 +OMIM:616801 skos:exactMatch UMLS:C4225203 Unspecified hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +OMIM:616802 skos:exactMatch UMLS:C2828747 Unspecified TARM1 +OMIM:616802 skos:exactMatch HGNC_symbol:TARM1 Unspecified TARM1 +OMIM:616802 skos:exactMatch HGNC:37250 Unspecified TARM1 +OMIM:616803 skos:exactMatch UMLS:C4225202 Unspecified lamb-shaffer syndrome +OMIM:253260 skos:exactMatch ORPHA:79241 Unspecified biotinidase deficiency +OMIM:253260 skos:exactMatch UMLS:C1854698 Unspecified biotinidase deficiency +OMIM:253260 skos:exactMatch UMLS:C0220754 Unspecified biotinidase deficiency +OMIM:616804 skos:exactMatch HGNC_symbol:VSTM1 Unspecified VSTM1 +OMIM:616804 skos:exactMatch HGNC:29455 Unspecified VSTM1 +OMIM:616804 skos:exactMatch UMLS:C1823650 Unspecified VSTM1 +OMIM:616805 skos:exactMatch HGNC:23172 Unspecified MYCT1 +OMIM:616805 skos:exactMatch HGNC_symbol:MYCT1 Unspecified MYCT1 +OMIM:616805 skos:exactMatch UMLS:C1427964 Unspecified MYCT1 +OMIM:616806 skos:exactMatch UMLS:C3891301 Unspecified wilms tumor 6 +OMIM:616806 skos:exactMatch ORPHA:654 Unspecified wilms tumor 6 +OMIM:616807 skos:exactMatch HGNC_symbol:FBF1 Unspecified FBF1 +OMIM:616807 skos:exactMatch HGNC:24674 Unspecified FBF1 +OMIM:616807 skos:exactMatch UMLS:C1428399 Unspecified FBF1 +OMIM:616808 skos:exactMatch UMLS:C2681309 Unspecified SHFL +OMIM:616808 skos:exactMatch HGNC:25649 Unspecified SHFL +OMIM:616808 skos:exactMatch HGNC_symbol:SHFL Unspecified SHFL +OMIM:616809 skos:exactMatch UMLS:C4225201 Unspecified hyperphosphatasia with mental retardation syndrome 6 +OMIM:602234 skos:exactMatch UMLS:C1332668 Unspecified CASP9 +OMIM:602234 skos:exactMatch HGNC_symbol:CASP9 Unspecified CASP9 +OMIM:602234 skos:exactMatch HGNC:1511 Unspecified CASP9 +OMIM:604897 skos:exactMatch UMLS:C1418483 Unspecified PFDN1 +OMIM:604897 skos:exactMatch HGNC_symbol:PFDN1 Unspecified PFDN1 +OMIM:604897 skos:exactMatch HGNC:8866 Unspecified PFDN1 +OMIM:604896 skos:exactMatch UMLS:C0948368 Unspecified MKKS +OMIM:604896 skos:exactMatch UMLS:C2675305 Unspecified MKKS +OMIM:604896 skos:exactMatch UMLS:C1417174 Unspecified MKKS +OMIM:604896 skos:exactMatch UMLS:C4016908 Unspecified MKKS +OMIM:604896 skos:exactMatch HGNC_symbol:MKKS Unspecified MKKS +OMIM:604896 skos:exactMatch HGNC:7108 Unspecified MKKS +OMIM:604896 skos:exactMatch UMLS:C1858054 Unspecified MKKS +OMIM:602235 skos:exactMatch HGNC:6296 Unspecified KCNQ2 +OMIM:602235 skos:exactMatch UMLS:C1416614 Unspecified KCNQ2 +OMIM:602235 skos:exactMatch UMLS:C3150986 Unspecified KCNQ2 +OMIM:602235 skos:exactMatch HGNC_symbol:KCNQ2 Unspecified KCNQ2 +OMIM:602235 skos:exactMatch UMLS:C3149074 Unspecified KCNQ2 +OMIM:602235 skos:exactMatch UMLS:C3149075 Unspecified KCNQ2 +OMIM:604899 skos:exactMatch HGNC:8869 Unspecified PFDN5 +OMIM:604899 skos:exactMatch UMLS:C1418486 Unspecified PFDN5 +OMIM:604899 skos:exactMatch HGNC_symbol:PFDN5 Unspecified PFDN5 +OMIM:604898 skos:exactMatch HGNC:8868 Unspecified PFDN4 +OMIM:604898 skos:exactMatch UMLS:C1418485 Unspecified PFDN4 +OMIM:604898 skos:exactMatch HGNC_symbol:PFDN4 Unspecified PFDN4 +OMIM:602238 skos:exactMatch UMLS:C1424742 Unspecified EXOSC2 +OMIM:602238 skos:exactMatch HGNC_symbol:EXOSC2 Unspecified EXOSC2 +OMIM:602238 skos:exactMatch HGNC:17097 Unspecified EXOSC2 +OMIM:602239 skos:exactMatch UMLS:C1413863 Unspecified CYP26A1 +OMIM:602239 skos:exactMatch HGNC_symbol:CYP26A1 Unspecified CYP26A1 +OMIM:602239 skos:exactMatch HGNC:2603 Unspecified CYP26A1 +OMIM:614219 skos:exactMatch UMLS:C3280182 Unspecified adams-oliver syndrome 2 +OMIM:614218 skos:exactMatch UMLS:C1823844 Unspecified WDR81 +OMIM:614218 skos:exactMatch HGNC:26600 Unspecified WDR81 +OMIM:614218 skos:exactMatch HGNC_symbol:WDR81 Unspecified WDR81 +OMIM:616880 skos:exactMatch UMLS:C1539939 Unspecified TBC1D22B +OMIM:616880 skos:exactMatch HGNC:21602 Unspecified TBC1D22B +OMIM:616880 skos:exactMatch HGNC_symbol:TBC1D22B Unspecified TBC1D22B +OMIM:616881 skos:exactMatch UMLS:C4225170 Unspecified leukodystrophy, hypomyelinating, 13 +OMIM:614217 skos:exactMatch UMLS:C1540206 Unspecified ASCC3 +OMIM:614217 skos:exactMatch HGNC_symbol:ASCC3 Unspecified ASCC3 +OMIM:614217 skos:exactMatch HGNC:18697 Unspecified ASCC3 +OMIM:616882 skos:exactMatch UMLS:C4225169 Unspecified advanced sleep phase syndrome, familial, 3 +OMIM:614216 skos:exactMatch HGNC:24103 Unspecified ASCC2 +OMIM:614216 skos:exactMatch HGNC_symbol:ASCC2 Unspecified ASCC2 +OMIM:614216 skos:exactMatch UMLS:C1540205 Unspecified ASCC2 +OMIM:616883 skos:exactMatch HGNC_symbol:SRPRB Unspecified SRPRB +OMIM:616883 skos:exactMatch UMLS:C1428344 Unspecified SRPRB +OMIM:616883 skos:exactMatch HGNC:24085 Unspecified SRPRB +OMIM:614215 skos:exactMatch HGNC:24268 Unspecified ASCC1 +OMIM:614215 skos:exactMatch UMLS:C4225176 Unspecified ASCC1 +OMIM:614215 skos:exactMatch HGNC_symbol:ASCC1 Unspecified ASCC1 +OMIM:614215 skos:exactMatch UMLS:C3277074 Unspecified ASCC1 +OMIM:614215 skos:exactMatch UMLS:C1428365 Unspecified ASCC1 +OMIM:616884 skos:exactMatch UMLS:C3470221 Unspecified UNC79 +OMIM:616884 skos:exactMatch HGNC:19966 Unspecified UNC79 +OMIM:616884 skos:exactMatch HGNC_symbol:UNC79 Unspecified UNC79 +OMIM:614214 skos:exactMatch UMLS:C1425680 Unspecified KLHL6 +OMIM:614214 skos:exactMatch HGNC_symbol:KLHL6 Unspecified KLHL6 +OMIM:614214 skos:exactMatch HGNC:18653 Unspecified KLHL6 +OMIM:616885 skos:exactMatch UMLS:C1424780 Unspecified CARHSP1 +OMIM:616885 skos:exactMatch HGNC:17150 Unspecified CARHSP1 +OMIM:616885 skos:exactMatch HGNC_symbol:CARHSP1 Unspecified CARHSP1 +OMIM:614213 skos:exactMatch UMLS:C3280168 Unspecified neuropathy, hereditary sensory, iia 2c +OMIM:614223 skos:exactMatch UMLS:C3280204 Unspecified narcolepsy 6, susceptibility to +OMIM:616875 skos:exactMatch UMLS:C4225172 Unspecified cerebellar atrophy, visual impairment, and psychomotor retardation +OMIM:614222 skos:exactMatch UMLS:C3280203 Unspecified warburg micro syndrome 3 +OMIM:616876 skos:exactMatch HGNC_symbol:TMED5 Unspecified TMED5 +OMIM:616876 skos:exactMatch HGNC:24251 Unspecified TMED5 +OMIM:616876 skos:exactMatch UMLS:C1539986 Unspecified TMED5 +OMIM:616877 skos:exactMatch HGNC_symbol:TMEM9 Unspecified TMEM9 +OMIM:616877 skos:exactMatch UMLS:C1425801 Unspecified TMEM9 +OMIM:616877 skos:exactMatch HGNC:18823 Unspecified TMEM9 +OMIM:614221 skos:exactMatch UMLS:C3280202 Unspecified biliary cirrhosis, primary, 5 +OMIM:614220 skos:exactMatch UMLS:C3280201 Unspecified biliary cirrhosis, primary, 4 +OMIM:616878 skos:exactMatch UMLS:C4225171 Unspecified metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration +OMIM:616879 skos:exactMatch HGNC_symbol:TBC1D22A Unspecified TBC1D22A +OMIM:616879 skos:exactMatch UMLS:C1539938 Unspecified TBC1D22A +OMIM:616879 skos:exactMatch HGNC:1309 Unspecified TBC1D22A +OMIM:170400 skos:exactMatch UMLS:C3714580 Unspecified hypokalemic periodic paralysis, iia 1 +OMIM:277200 skos:exactMatch UMLS:C1848587 Unspecified right ventricular hypoplasia, isolated +OMIM:602240 skos:exactMatch HGNC:12983 Unspecified ZNF192 +OMIM:602240 skos:exactMatch UMLS:C1421680 Unspecified ZNF192 +OMIM:602240 skos:exactMatch HGNC_symbol:ZKSCAN8 Unspecified ZNF192 +OMIM:602241 skos:exactMatch UMLS:C1417171 Unspecified MIPEP +OMIM:602241 skos:exactMatch HGNC_symbol:MIPEP Unspecified MIPEP +OMIM:602241 skos:exactMatch HGNC:7104 Unspecified MIPEP +OMIM:602242 skos:exactMatch HGNC_symbol:AP2S1 Unspecified AP2S1 +OMIM:602242 skos:exactMatch HGNC:565 Unspecified AP2S1 +OMIM:602242 skos:exactMatch UMLS:C1412445 Unspecified AP2S1 +OMIM:602243 skos:exactMatch HGNC_symbol:CD151 Unspecified CD151 +OMIM:602243 skos:exactMatch HGNC:1630 Unspecified CD151 +OMIM:602243 skos:exactMatch UMLS:C1413203 Unspecified CD151 +OMIM:602244 skos:exactMatch UMLS:C1414110 Unspecified DNASE1L3 +OMIM:602244 skos:exactMatch HGNC:2959 Unspecified DNASE1L3 +OMIM:602244 skos:exactMatch HGNC_symbol:DNASE1L3 Unspecified DNASE1L3 +OMIM:602223 skos:exactMatch HGNC_symbol:EIF4EBP1 Unspecified EIF4EBP1 +OMIM:602223 skos:exactMatch HGNC:3288 Unspecified EIF4EBP1 +OMIM:602223 skos:exactMatch UMLS:C1414352 Unspecified EIF4EBP1 +OMIM:604886 skos:exactMatch HGNC:7864 Unspecified EMC8 +OMIM:604886 skos:exactMatch UMLS:C1417751 Unspecified EMC8 +OMIM:604886 skos:exactMatch HGNC_symbol:EMC8 Unspecified EMC8 +OMIM:602224 skos:exactMatch HGNC_symbol:EIF4EBP2 Unspecified EIF4EBP2 +OMIM:602224 skos:exactMatch HGNC:3289 Unspecified EIF4EBP2 +OMIM:602224 skos:exactMatch UMLS:C1414353 Unspecified EIF4EBP2 +OMIM:604885 skos:exactMatch UMLS:C1334537 Unspecified MYBBP1A +OMIM:604885 skos:exactMatch HGNC:7546 Unspecified MYBBP1A +OMIM:604885 skos:exactMatch HGNC_symbol:MYBBP1A Unspecified MYBBP1A +OMIM:602225 skos:exactMatch UMLS:C1413723 Unspecified CRX +OMIM:602225 skos:exactMatch HGNC:2383 Unspecified CRX +OMIM:602225 skos:exactMatch HGNC_symbol:CRX Unspecified CRX +OMIM:604888 skos:exactMatch HGNC_symbol:GTF3C3 Unspecified GTF3C3 +OMIM:604888 skos:exactMatch UMLS:C1333726 Unspecified GTF3C3 +OMIM:604888 skos:exactMatch HGNC:4666 Unspecified GTF3C3 +OMIM:602226 skos:exactMatch HGNC:6726 Unspecified CD180 +OMIM:602226 skos:exactMatch HGNC_symbol:CD180 Unspecified CD180 +OMIM:602226 skos:exactMatch UMLS:C1824676 Unspecified CD180 +OMIM:604887 skos:exactMatch HGNC:7434 Unspecified MTHFD2 +OMIM:604887 skos:exactMatch UMLS:C1417422 Unspecified MTHFD2 +OMIM:604887 skos:exactMatch HGNC_symbol:MTHFD2 Unspecified MTHFD2 +OMIM:300201 skos:exactMatch HGNC:17451 Unspecified CYSLTR1 +OMIM:300201 skos:exactMatch HGNC_symbol:CYSLTR1 Unspecified CYSLTR1 +OMIM:300201 skos:exactMatch UMLS:C1424972 Unspecified CYSLTR1 +OMIM:602227 skos:exactMatch HGNC_symbol:CCL19 Unspecified CCL19 +OMIM:602227 skos:exactMatch UMLS:C1332682 Unspecified CCL19 +OMIM:602227 skos:exactMatch HGNC:10617 Unspecified CCL19 +OMIM:300200 skos:exactMatch UMLS:C0342482 Unspecified adrenal hypoplasia, congenital +OMIM:604889 skos:exactMatch HGNC:7648 Unspecified NBEA +OMIM:604889 skos:exactMatch HGNC_symbol:NBEA Unspecified NBEA +OMIM:604889 skos:exactMatch UMLS:C1417603 Unspecified NBEA +OMIM:602228 skos:exactMatch UMLS:C3837967 Unspecified TCF7L2 +OMIM:602228 skos:exactMatch HGNC_symbol:TCF7L2 Unspecified TCF7L2 +OMIM:602228 skos:exactMatch HGNC:11641 Unspecified TCF7L2 +OMIM:602228 skos:exactMatch UMLS:C1420644 Unspecified TCF7L2 +OMIM:602229 skos:exactMatch UMLS:C1836727 Unspecified SOX10 +OMIM:602229 skos:exactMatch HGNC_symbol:SOX10 Unspecified SOX10 +OMIM:602229 skos:exactMatch HGNC:11190 Unspecified SOX10 +OMIM:602229 skos:exactMatch UMLS:C4016778 Unspecified SOX10 +OMIM:602229 skos:exactMatch UMLS:C2748472 Unspecified SOX10 +OMIM:602229 skos:exactMatch UMLS:C1420317 Unspecified SOX10 +OMIM:602229 skos:exactMatch UMLS:C2750452 Unspecified SOX10 +OMIM:300203 skos:exactMatch HGNC:11411 Unspecified CDKL5 +OMIM:300203 skos:exactMatch UMLS:C1420484 Unspecified CDKL5 +OMIM:300203 skos:exactMatch UMLS:C4750718 Unspecified CDKL5 +OMIM:300203 skos:exactMatch HGNC_symbol:CDKL5 Unspecified CDKL5 +OMIM:300202 skos:exactMatch UMLS:C1427889 Unspecified TRAPPC2 +OMIM:300202 skos:exactMatch HGNC_symbol:TRAPPC2 Unspecified TRAPPC2 +OMIM:300202 skos:exactMatch HGNC:23068 Unspecified TRAPPC2 +OMIM:182400 skos:exactMatch UMLS:C1866879 Unspecified somatomedin, embryonic +OMIM:614209 skos:exactMatch UMLS:C3280155 Unspecified meckel syndrome, iia 9 +OMIM:300205 skos:exactMatch HGNC:3133 Unspecified EBP +OMIM:300205 skos:exactMatch HGNC_symbol:EBP Unspecified EBP +OMIM:300205 skos:exactMatch UMLS:C1414236 Unspecified EBP +OMIM:300204 skos:exactMatch UMLS:C1417168 Unspecified MID2 +OMIM:300204 skos:exactMatch HGNC_symbol:MID2 Unspecified MID2 +OMIM:300204 skos:exactMatch HGNC:7096 Unspecified MID2 +OMIM:614208 skos:exactMatch UMLS:C3280154 Unspecified intellectual developmental disorder, autosomal recessive 16 +OMIM:300207 skos:exactMatch HGNC:4506 Unspecified GPR50 +OMIM:300207 skos:exactMatch UMLS:C1415241 Unspecified GPR50 +OMIM:300207 skos:exactMatch HGNC_symbol:GPR50 Unspecified GPR50 +OMIM:614207 skos:exactMatch UMLS:C3280153 Unspecified hyperphosphatasia with mental retardation syndrome 3 +OMIM:300206 skos:exactMatch HGNC:5996 Unspecified IL1RAPL1 +OMIM:300206 skos:exactMatch UMLS:C1416398 Unspecified IL1RAPL1 +OMIM:300206 skos:exactMatch UMLS:C1846187 Unspecified IL1RAPL1 +OMIM:300206 skos:exactMatch HGNC_symbol:IL1RAPL1 Unspecified IL1RAPL1 +OMIM:616870 skos:exactMatch HGNC:21076 Unspecified TMEM14A +OMIM:616870 skos:exactMatch UMLS:C1427297 Unspecified TMEM14A +OMIM:616870 skos:exactMatch HGNC_symbol:TMEM14A Unspecified TMEM14A +OMIM:614206 skos:exactMatch HGNC_symbol:CHTOP Unspecified CHTOP +OMIM:614206 skos:exactMatch HGNC:24511 Unspecified CHTOP +OMIM:614206 skos:exactMatch UMLS:C1823221 Unspecified CHTOP +OMIM:614205 skos:exactMatch UMLS:C3280146 Unspecified three m syndrome 3 +OMIM:300209 skos:exactMatch ORPHA:79022 Unspecified simpson-golabi-behmel syndrome, iia 2 +OMIM:300209 skos:exactMatch UMLS:C1846175 Unspecified simpson-golabi-behmel syndrome, iia 2 +OMIM:616871 skos:exactMatch UMLS:C4225174 Unspecified myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to +OMIM:616871 skos:exactMatch ORPHA:488647 Unspecified myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to +OMIM:616872 skos:exactMatch HGNC_symbol:TM9SF3 Unspecified TM9SF3 +OMIM:616872 skos:exactMatch HGNC:21529 Unspecified TM9SF3 +OMIM:616872 skos:exactMatch UMLS:C1823288 Unspecified TM9SF3 +OMIM:300208 skos:exactMatch UMLS:C1419852 Unspecified SCML2 +OMIM:300208 skos:exactMatch HGNC:10581 Unspecified SCML2 +OMIM:300208 skos:exactMatch HGNC_symbol:SCML2 Unspecified SCML2 +OMIM:614204 skos:exactMatch UMLS:C4759670 Unspecified psoriasis 14, pustular +OMIM:614204 skos:exactMatch UMLS:C0392439 Unspecified psoriasis 14, pustular +OMIM:614204 skos:exactMatch ORPHA:404546 Unspecified psoriasis 14, pustular +OMIM:614204 skos:exactMatch ORPHA:247353 Unspecified psoriasis 14, pustular +OMIM:614203 skos:exactMatch UMLS:C3280133 Unspecified parkinson disease 17 +OMIM:616873 skos:exactMatch UMLS:C4225173 Unspecified immunodeficiency, common variable, 13 +OMIM:616874 skos:exactMatch HGNC:24257 Unspecified TMBIM4 +OMIM:616874 skos:exactMatch UMLS:C1823290 Unspecified TMBIM4 +OMIM:616874 skos:exactMatch HGNC_symbol:TMBIM4 Unspecified TMBIM4 +OMIM:614202 skos:exactMatch ORPHA:88616 Unspecified rafiq syndrome +OMIM:614202 skos:exactMatch UMLS:C3280127 Unspecified rafiq syndrome +OMIM:616864 skos:exactMatch HGNC:26307 Unspecified HEXD +OMIM:616864 skos:exactMatch HGNC_symbol:HEXD Unspecified HEXD +OMIM:616864 skos:exactMatch UMLS:C1825462 Unspecified HEXD +OMIM:614212 skos:exactMatch UMLS:C3280160 Unspecified encephalopathy, acute, infection-induced, susceptibility to, 4 +OMIM:614211 skos:exactMatch UMLS:C3887930 Unspecified deafness, autosomal dominant 33 +OMIM:616865 skos:exactMatch UMLS:C1423109 Unspecified PAPOLG +OMIM:616865 skos:exactMatch HGNC:14982 Unspecified PAPOLG +OMIM:616865 skos:exactMatch HGNC_symbol:PAPOLG Unspecified PAPOLG +OMIM:616866 skos:exactMatch ORPHA:486811 Unspecified spinal muscular atrophy with congenital bone fractures 1 +OMIM:616866 skos:exactMatch UMLS:C4225177 Unspecified spinal muscular atrophy with congenital bone fractures 1 +OMIM:616866 skos:exactMatch UMLS:C1849101 Unspecified spinal muscular atrophy with congenital bone fractures 1 +OMIM:614210 skos:exactMatch UMLS:C3280156 Unspecified lung cancer susceptibility 5 +OMIM:616867 skos:exactMatch ORPHA:486811 Unspecified spinal muscular atrophy with congenital bone fractures 2 +OMIM:616867 skos:exactMatch UMLS:C4225176 Unspecified spinal muscular atrophy with congenital bone fractures 2 +OMIM:616868 skos:exactMatch UMLS:C0267663 Unspecified diarrhea 8, secretory sodium, congenital +OMIM:616868 skos:exactMatch ORPHA:103908 Unspecified diarrhea 8, secretory sodium, congenital +OMIM:169400 skos:exactMatch UMLS:C0030779 Unspecified pelger-huet anomaly +OMIM:616869 skos:exactMatch HGNC_symbol:CNEP1R1 Unspecified CNEP1R1 +OMIM:616869 skos:exactMatch UMLS:C3469912 Unspecified CNEP1R1 +OMIM:616869 skos:exactMatch HGNC:26759 Unspecified CNEP1R1 +OMIM:616869 skos:exactMatch UMLS:C4225175 Unspecified CNEP1R1 +OMIM:253240 skos:exactMatch UMLS:C1854729 Unspecified mucus inspissation of respiratory tract +OMIM:604891 skos:exactMatch HGNC_symbol:NCKAP1 Unspecified NCKAP1 +OMIM:604891 skos:exactMatch UMLS:C1417612 Unspecified NCKAP1 +OMIM:604891 skos:exactMatch HGNC:7666 Unspecified NCKAP1 +OMIM:604890 skos:exactMatch HGNC:4668 Unspecified GTF3C5 +OMIM:604890 skos:exactMatch HGNC_symbol:GTF3C5 Unspecified GTF3C5 +OMIM:604890 skos:exactMatch UMLS:C1333728 Unspecified GTF3C5 +OMIM:604893 skos:exactMatch UMLS:C2681903 Unspecified AIRN +OMIM:604893 skos:exactMatch HGNC:34515 Unspecified AIRN +OMIM:604893 skos:exactMatch HGNC_symbol:AIRN Unspecified AIRN +OMIM:602230 skos:exactMatch UMLS:C1420019 Unspecified SH3BGR +OMIM:602230 skos:exactMatch HGNC:10822 Unspecified SH3BGR +OMIM:602230 skos:exactMatch HGNC_symbol:SH3BGR Unspecified SH3BGR +OMIM:604892 skos:exactMatch UMLS:C1333727 Unspecified GTF3C4 +OMIM:604892 skos:exactMatch HGNC:4667 Unspecified GTF3C4 +OMIM:604892 skos:exactMatch HGNC_symbol:GTF3C4 Unspecified GTF3C4 +OMIM:602231 skos:exactMatch HGNC:11124 Unspecified SUMO3 +OMIM:602231 skos:exactMatch UMLS:C1539896 Unspecified SUMO3 +OMIM:602231 skos:exactMatch HGNC_symbol:SUMO3 Unspecified SUMO3 +OMIM:602232 skos:exactMatch HGNC:6297 Unspecified KCNQ3 +OMIM:602232 skos:exactMatch UMLS:C1416615 Unspecified KCNQ3 +OMIM:602232 skos:exactMatch HGNC_symbol:KCNQ3 Unspecified KCNQ3 +OMIM:604895 skos:exactMatch HGNC:11599 Unspecified TBX21 +OMIM:604895 skos:exactMatch UMLS:C1420610 Unspecified TBX21 +OMIM:604895 skos:exactMatch HGNC_symbol:TBX21 Unspecified TBX21 +OMIM:604895 skos:exactMatch UMLS:C1876174 Unspecified TBX21 +OMIM:604895 skos:exactMatch UMLS:C1858067 Unspecified TBX21 +OMIM:602233 skos:exactMatch UMLS:C1332098 Unspecified APAF1 +OMIM:602233 skos:exactMatch HGNC:576 Unspecified APAF1 +OMIM:602233 skos:exactMatch HGNC_symbol:APAF1 Unspecified APAF1 +OMIM:604894 skos:exactMatch HGNC_symbol:ONECUT2 Unspecified ONECUT2 +OMIM:604894 skos:exactMatch UMLS:C1417952 Unspecified ONECUT2 +OMIM:604894 skos:exactMatch HGNC:8139 Unspecified ONECUT2 +OMIM:604875 skos:exactMatch HGNC:7608 Unspecified MYO9A +OMIM:604875 skos:exactMatch UMLS:C1417571 Unspecified MYO9A +OMIM:604875 skos:exactMatch HGNC_symbol:MYO9A Unspecified MYO9A +OMIM:602212 skos:exactMatch HGNC_symbol:SIAH1 Unspecified SIAH1 +OMIM:602212 skos:exactMatch UMLS:C1420045 Unspecified SIAH1 +OMIM:602212 skos:exactMatch HGNC:10857 Unspecified SIAH1 +OMIM:604874 skos:exactMatch HGNC:6380 Unspecified KLRG1 +OMIM:604874 skos:exactMatch UMLS:C1416687 Unspecified KLRG1 +OMIM:604874 skos:exactMatch HGNC_symbol:KLRG1 Unspecified KLRG1 +OMIM:602213 skos:exactMatch HGNC_symbol:SIAH2 Unspecified SIAH2 +OMIM:602213 skos:exactMatch UMLS:C1420046 Unspecified SIAH2 +OMIM:602213 skos:exactMatch HGNC:10858 Unspecified SIAH2 +OMIM:604877 skos:exactMatch HGNC:6780 Unspecified MAFF +OMIM:604877 skos:exactMatch HGNC_symbol:MAFF Unspecified MAFF +OMIM:604877 skos:exactMatch UMLS:C1416967 Unspecified MAFF +OMIM:602214 skos:exactMatch UMLS:C1413758 Unspecified CSNK1G2 +OMIM:602214 skos:exactMatch HGNC_symbol:CSNK1G2 Unspecified CSNK1G2 +OMIM:602214 skos:exactMatch HGNC:2455 Unspecified CSNK1G2 +OMIM:602215 skos:exactMatch UMLS:C1413978 Unspecified DEFB4A +OMIM:602215 skos:exactMatch HGNC:2767 Unspecified DEFB4A +OMIM:602215 skos:exactMatch HGNC_symbol:DEFB4A Unspecified DEFB4A +OMIM:604876 skos:exactMatch HGNC:3041 Unspecified RCAN2 +OMIM:604876 skos:exactMatch HGNC_symbol:RCAN2 Unspecified RCAN2 +OMIM:604876 skos:exactMatch UMLS:C1414161 Unspecified RCAN2 +OMIM:602216 skos:exactMatch UMLS:C3836561 Unspecified STK11 +OMIM:602216 skos:exactMatch HGNC_symbol:STK11 Unspecified STK11 +OMIM:602216 skos:exactMatch UMLS:C0694883 Unspecified STK11 +OMIM:602216 skos:exactMatch UMLS:C0031269 Unspecified STK11 +OMIM:602216 skos:exactMatch UMLS:C4016283 Unspecified STK11 +OMIM:602216 skos:exactMatch UMLS:C4016776 Unspecified STK11 +OMIM:602216 skos:exactMatch HGNC:11389 Unspecified STK11 +OMIM:602216 skos:exactMatch UMLS:C4015968 Unspecified STK11 +OMIM:604879 skos:exactMatch HGNC_symbol:SLC12A7 Unspecified SLC12A7 +OMIM:604879 skos:exactMatch UMLS:C1420095 Unspecified SLC12A7 +OMIM:604879 skos:exactMatch HGNC:10915 Unspecified SLC12A7 +OMIM:602217 skos:exactMatch HGNC_symbol:SDCBP Unspecified SDCBP +OMIM:602217 skos:exactMatch UMLS:C1419895 Unspecified SDCBP +OMIM:602217 skos:exactMatch HGNC:10662 Unspecified SDCBP +OMIM:604878 skos:exactMatch HGNC_symbol:SLC12A6 Unspecified SLC12A6 +OMIM:604878 skos:exactMatch UMLS:C1420094 Unspecified SLC12A6 +OMIM:604878 skos:exactMatch HGNC:10914 Unspecified SLC12A6 +OMIM:265200 skos:exactMatch UMLS:C1849566 Unspecified pulmonary bullae causing pneumothorax +OMIM:602218 skos:exactMatch HGNC_symbol:SALL1 Unspecified SALL1 +OMIM:602218 skos:exactMatch UMLS:C1419808 Unspecified SALL1 +OMIM:602218 skos:exactMatch HGNC:10524 Unspecified SALL1 +OMIM:602219 skos:exactMatch UMLS:C1419810 Unspecified SALL2 +OMIM:602219 skos:exactMatch HGNC_symbol:SALL2 Unspecified SALL2 +OMIM:602219 skos:exactMatch HGNC:10526 Unspecified SALL2 +OMIM:616860 skos:exactMatch ORPHA:255132 Unspecified anemia, sideroblastic, 3, pyridoxine-refractory +OMIM:616860 skos:exactMatch UMLS:C4225155 Unspecified anemia, sideroblastic, 3, pyridoxine-refractory +OMIM:616861 skos:exactMatch UMLS:C1424965 Unspecified SLC12A9 +OMIM:616861 skos:exactMatch HGNC_symbol:SLC12A9 Unspecified SLC12A9 +OMIM:616861 skos:exactMatch HGNC:17435 Unspecified SLC12A9 +OMIM:616862 skos:exactMatch UMLS:C1419663 Unspecified RPL34 +OMIM:616862 skos:exactMatch HGNC_symbol:RPL34 Unspecified RPL34 +OMIM:616862 skos:exactMatch HGNC:10340 Unspecified RPL34 +OMIM:616863 skos:exactMatch UMLS:C5393908 Unspecified hao-fountain syndrome +OMIM:616863 skos:exactMatch ORPHA:500055 Unspecified hao-fountain syndrome +OMIM:614201 skos:exactMatch UMLS:C3280120 Unspecified bleeding disorder, platelet-type, 11 +OMIM:616853 skos:exactMatch HGNC:30602 Unspecified None +OMIM:616853 skos:exactMatch HGNC_symbol:FAM72C Unspecified None +OMIM:616853 skos:exactMatch UMLS:C4225668 Unspecified None +OMIM:614200 skos:exactMatch UMLS:C3280114 Unspecified bleeding disorder, platelet-type, 9 +OMIM:616854 skos:exactMatch UMLS:C4225180 Unspecified even-plus syndrome +OMIM:616855 skos:exactMatch HGNC_symbol:COX8C Unspecified COX8C +OMIM:616855 skos:exactMatch HGNC:24382 Unspecified COX8C +OMIM:616855 skos:exactMatch UMLS:C1428373 Unspecified COX8C +OMIM:616856 skos:exactMatch HGNC:14256 Unspecified BRPF3 +OMIM:616856 skos:exactMatch HGNC_symbol:BRPF3 Unspecified BRPF3 +OMIM:616856 skos:exactMatch UMLS:C1422517 Unspecified BRPF3 +OMIM:616857 skos:exactMatch HGNC_symbol:CLCA4 Unspecified CLCA4 +OMIM:616857 skos:exactMatch UMLS:C1413449 Unspecified CLCA4 +OMIM:616857 skos:exactMatch HGNC:2018 Unspecified CLCA4 +OMIM:616858 skos:exactMatch UMLS:C4225179 Unspecified cowden syndrome 7 +OMIM:616859 skos:exactMatch UMLS:C4225178 Unspecified spasticity, childhood-onset, with hyperglycinemia +OMIM:604882 skos:exactMatch HGNC:13806 Unspecified NEUROG3 +OMIM:604882 skos:exactMatch UMLS:C1422205 Unspecified NEUROG3 +OMIM:604882 skos:exactMatch HGNC_symbol:NEUROG3 Unspecified NEUROG3 +OMIM:604881 skos:exactMatch UMLS:C1419624 Unspecified RPH3AL +OMIM:604881 skos:exactMatch HGNC:10296 Unspecified RPH3AL +OMIM:604881 skos:exactMatch HGNC_symbol:RPH3AL Unspecified RPH3AL +OMIM:602220 skos:exactMatch HGNC_symbol:RASL10A Unspecified RASL10A +OMIM:602220 skos:exactMatch HGNC:16954 Unspecified RASL10A +OMIM:602220 skos:exactMatch UMLS:C1335650 Unspecified RASL10A +OMIM:602221 skos:exactMatch HGNC_symbol:ZMYM2 Unspecified ZMYM2 +OMIM:602221 skos:exactMatch HGNC:12989 Unspecified ZMYM2 +OMIM:602221 skos:exactMatch UMLS:C1865737 Unspecified ZMYM2 +OMIM:602221 skos:exactMatch UMLS:C1823958 Unspecified ZMYM2 +OMIM:604884 skos:exactMatch HGNC:7749 Unspecified NEK6 +OMIM:604884 skos:exactMatch UMLS:C1417675 Unspecified NEK6 +OMIM:604884 skos:exactMatch HGNC_symbol:NEK6 Unspecified NEK6 +OMIM:604883 skos:exactMatch UMLS:C1333725 Unspecified GTF3C2 +OMIM:604883 skos:exactMatch HGNC:4665 Unspecified GTF3C2 +OMIM:604883 skos:exactMatch HGNC_symbol:GTF3C2 Unspecified GTF3C2 +OMIM:602201 skos:exactMatch UMLS:C1414248 Unspecified ECM1 +OMIM:602201 skos:exactMatch HGNC:3153 Unspecified ECM1 +OMIM:602201 skos:exactMatch HGNC_symbol:ECM1 Unspecified ECM1 +OMIM:604864 skos:exactMatch UMLS:C0432214 Unspecified osteoarthritis with mild chondrodysplasia +OMIM:602202 skos:exactMatch HGNC:2728 Unspecified DDOST +OMIM:602202 skos:exactMatch UMLS:C1413949 Unspecified DDOST +OMIM:602202 skos:exactMatch HGNC_symbol:DDOST Unspecified DDOST +OMIM:604863 skos:exactMatch HGNC_symbol:LRAT Unspecified LRAT +OMIM:604863 skos:exactMatch HGNC:6685 Unspecified LRAT +OMIM:604863 skos:exactMatch UMLS:C1416905 Unspecified LRAT +OMIM:602203 skos:exactMatch HGNC_symbol:SLN Unspecified SLN +OMIM:602203 skos:exactMatch HGNC:11089 Unspecified SLN +OMIM:602203 skos:exactMatch UMLS:C1420247 Unspecified SLN +OMIM:604866 skos:exactMatch HGNC_symbol:PLAGL2 Unspecified PLAGL2 +OMIM:604866 skos:exactMatch UMLS:C1418630 Unspecified PLAGL2 +OMIM:604866 skos:exactMatch HGNC:9047 Unspecified PLAGL2 +OMIM:604865 skos:exactMatch HGNC_symbol:KLF7 Unspecified KLF7 +OMIM:604865 skos:exactMatch HGNC:6350 Unspecified KLF7 +OMIM:604865 skos:exactMatch UMLS:C1416662 Unspecified KLF7 +OMIM:602204 skos:exactMatch HGNC_symbol:BICD1 Unspecified BICD1 +OMIM:602204 skos:exactMatch UMLS:C1412796 Unspecified BICD1 +OMIM:602204 skos:exactMatch HGNC:1049 Unspecified BICD1 +OMIM:604868 skos:exactMatch HGNC_symbol:TAS2R3 Unspecified TAS2R3 +OMIM:604868 skos:exactMatch HGNC:14910 Unspecified TAS2R3 +OMIM:604868 skos:exactMatch UMLS:C1423046 Unspecified TAS2R3 +OMIM:604867 skos:exactMatch HGNC_symbol:TAS2R16 Unspecified TAS2R16 +OMIM:604867 skos:exactMatch UMLS:C1423055 Unspecified TAS2R16 +OMIM:604867 skos:exactMatch HGNC:14921 Unspecified TAS2R16 +OMIM:602206 skos:exactMatch HGNC:16523 Unspecified RAB17 +OMIM:602206 skos:exactMatch HGNC_symbol:RAB17 Unspecified RAB17 +OMIM:602206 skos:exactMatch UMLS:C1424351 Unspecified RAB17 +OMIM:602207 skos:exactMatch HGNC_symbol:RAB18 Unspecified RAB18 +OMIM:602207 skos:exactMatch HGNC:14244 Unspecified RAB18 +OMIM:602207 skos:exactMatch UMLS:C1422505 Unspecified RAB18 +OMIM:604869 skos:exactMatch HGNC_symbol:TAS2R4 Unspecified TAS2R4 +OMIM:604869 skos:exactMatch UMLS:C1423047 Unspecified TAS2R4 +OMIM:604869 skos:exactMatch HGNC:14911 Unspecified TAS2R4 +OMIM:602208 skos:exactMatch UMLS:C1416577 Unspecified KCNJ10 +OMIM:602208 skos:exactMatch HGNC_symbol:KCNJ10 Unspecified KCNJ10 +OMIM:602208 skos:exactMatch HGNC:6256 Unspecified KCNJ10 +OMIM:602209 skos:exactMatch HGNC_symbol:RREB1 Unspecified RREB1 +OMIM:602209 skos:exactMatch UMLS:C1419758 Unspecified RREB1 +OMIM:602209 skos:exactMatch HGNC:10449 Unspecified RREB1 +OMIM:616850 skos:exactMatch UMLS:C2829145 Unspecified WDR83 +OMIM:616850 skos:exactMatch HGNC_symbol:WDR83 Unspecified WDR83 +OMIM:616850 skos:exactMatch HGNC:32672 Unspecified WDR83 +OMIM:616851 skos:exactMatch UMLS:C4225182 Unspecified cataract 45 +OMIM:616852 skos:exactMatch UMLS:C4225181 Unspecified myopathy, scapulohumeroperoneal +OMIM:616842 skos:exactMatch UMLS:C4225185 Unspecified DHS6S1 +OMIM:253220 skos:exactMatch ORPHA:584 Unspecified mucopolysaccharidosis, iia 7 +OMIM:253220 skos:exactMatch UMLS:C0085132 Unspecified mucopolysaccharidosis, iia 7 +OMIM:616843 skos:exactMatch UMLS:C4225184 Unspecified lymphatic malformation 6 +OMIM:616844 skos:exactMatch UMLS:C1824948 Unspecified DNAJC17 +OMIM:616844 skos:exactMatch HGNC_symbol:DNAJC17 Unspecified DNAJC17 +OMIM:616844 skos:exactMatch HGNC:25556 Unspecified DNAJC17 +OMIM:616845 skos:exactMatch UMLS:C1539107 Unspecified CLEC14A +OMIM:616845 skos:exactMatch HGNC:19832 Unspecified CLEC14A +OMIM:616845 skos:exactMatch HGNC_symbol:CLEC14A Unspecified CLEC14A +OMIM:616846 skos:exactMatch UMLS:C3541711 Unspecified EMC1 +OMIM:616846 skos:exactMatch HGNC_symbol:EMC1 Unspecified EMC1 +OMIM:616846 skos:exactMatch HGNC:28957 Unspecified EMC1 +OMIM:616847 skos:exactMatch UMLS:C1428468 Unspecified ZNF543 +OMIM:616847 skos:exactMatch HGNC_symbol:ZNF543 Unspecified ZNF543 +OMIM:616847 skos:exactMatch HGNC:25281 Unspecified ZNF543 +OMIM:616848 skos:exactMatch UMLS:C1825991 Unspecified MIER1 +OMIM:616848 skos:exactMatch HGNC:29657 Unspecified MIER1 +OMIM:616848 skos:exactMatch HGNC_symbol:MIER1 Unspecified MIER1 +OMIM:616849 skos:exactMatch UMLS:C4225183 Unspecified brachydactyly, iia a1, d +OMIM:604871 skos:exactMatch HGNC_symbol:MMP24 Unspecified MMP24 +OMIM:604871 skos:exactMatch UMLS:C1417211 Unspecified MMP24 +OMIM:604871 skos:exactMatch HGNC:7172 Unspecified MMP24 +OMIM:604870 skos:exactMatch HGNC:6895 Unspecified MARCO +OMIM:604870 skos:exactMatch UMLS:C1417032 Unspecified MARCO +OMIM:604870 skos:exactMatch HGNC_symbol:MARCO Unspecified MARCO +OMIM:602210 skos:exactMatch HGNC_symbol:EIF3E Unspecified EIF3E +OMIM:602210 skos:exactMatch HGNC:3277 Unspecified EIF3E +OMIM:602210 skos:exactMatch UMLS:C0812224 Unspecified EIF3E +OMIM:604873 skos:exactMatch HGNC_symbol:MPZL2 Unspecified MPZL2 +OMIM:604873 skos:exactMatch HGNC:3496 Unspecified MPZL2 +OMIM:604873 skos:exactMatch UMLS:C1414478 Unspecified MPZL2 +OMIM:604872 skos:exactMatch HGNC:8748 Unspecified PCSK7 +OMIM:604872 skos:exactMatch UMLS:C1418392 Unspecified PCSK7 +OMIM:604872 skos:exactMatch HGNC_symbol:PCSK7 Unspecified PCSK7 +OMIM:602211 skos:exactMatch UMLS:C1414671 Unspecified FOXD2 +OMIM:602211 skos:exactMatch HGNC_symbol:FOXD2 Unspecified FOXD2 +OMIM:602211 skos:exactMatch HGNC:3803 Unspecified FOXD2 +OMIM:602278 skos:exactMatch UMLS:C1417659 Unspecified NEDD4 +OMIM:602278 skos:exactMatch HGNC_symbol:NEDD4 Unspecified NEDD4 +OMIM:602278 skos:exactMatch HGNC:7727 Unspecified NEDD4 +OMIM:300230 skos:exactMatch UMLS:C1413047 Unspecified CA5B +OMIM:300230 skos:exactMatch HGNC_symbol:CA5B Unspecified CA5B +OMIM:300230 skos:exactMatch HGNC:1378 Unspecified CA5B +OMIM:602279 skos:exactMatch HGNC:8565 Unspecified PABPN1 +OMIM:602279 skos:exactMatch HGNC_symbol:PABPN1 Unspecified PABPN1 +OMIM:602279 skos:exactMatch UMLS:C1418237 Unspecified PABPN1 +OMIM:300232 skos:exactMatch UMLS:C1846148 Unspecified spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy +OMIM:300231 skos:exactMatch HGNC_symbol:SLC9A6 Unspecified SLC9A6 +OMIM:300231 skos:exactMatch HGNC:11079 Unspecified SLC9A6 +OMIM:300231 skos:exactMatch UMLS:C1420240 Unspecified SLC9A6 +OMIM:300234 skos:exactMatch HGNC_symbol:UXT Unspecified UXT +OMIM:300234 skos:exactMatch HGNC:12641 Unspecified UXT +OMIM:300234 skos:exactMatch UMLS:C1421417 Unspecified UXT +OMIM:300233 skos:exactMatch UMLS:C1846147 Unspecified radioulnar synostosis, radial ray abnormalities, and severe malformations 1n the male +OMIM:300236 skos:exactMatch UMLS:C1421873 Unspecified ZXDB +OMIM:300236 skos:exactMatch HGNC:13199 Unspecified ZXDB +OMIM:300236 skos:exactMatch HGNC_symbol:ZXDB Unspecified ZXDB +OMIM:300235 skos:exactMatch HGNC:13198 Unspecified ZXDA +OMIM:300235 skos:exactMatch HGNC_symbol:ZXDA Unspecified ZXDA +OMIM:300235 skos:exactMatch UMLS:C1421872 Unspecified ZXDA +OMIM:300238 skos:exactMatch UMLS:C1846145 Unspecified intellectual developmental disorder, x-linked, syndromic 11 +OMIM:300237 skos:exactMatch UMLS:C1420626 Unspecified TCEAL1 +OMIM:300237 skos:exactMatch HGNC:11616 Unspecified TCEAL1 +OMIM:300237 skos:exactMatch HGNC_symbol:TCEAL1 Unspecified TCEAL1 +OMIM:300239 skos:exactMatch UMLS:C1333331 Unspecified EGFL6 +OMIM:300239 skos:exactMatch HGNC_symbol:EGFL6 Unspecified EGFL6 +OMIM:300239 skos:exactMatch HGNC:3235 Unspecified EGFL6 +OMIM:614259 skos:exactMatch HGNC_symbol:CFAP57 Unspecified CFAP57 +OMIM:614259 skos:exactMatch UMLS:C1823829 Unspecified CFAP57 +OMIM:614259 skos:exactMatch HGNC:26485 Unspecified CFAP57 +OMIM:614258 skos:exactMatch UMLS:C1538695 Unspecified POLR3A +OMIM:614258 skos:exactMatch HGNC:30074 Unspecified POLR3A +OMIM:614258 skos:exactMatch HGNC_symbol:POLR3A Unspecified POLR3A +OMIM:614257 skos:exactMatch UMLS:C3280285 Unspecified chromosome 20q11-q12 deletion syndrome +OMIM:614267 skos:exactMatch HGNC:33159 Unspecified ACOT6 +OMIM:614267 skos:exactMatch UMLS:C1825830 Unspecified ACOT6 +OMIM:614267 skos:exactMatch HGNC_symbol:ACOT6 Unspecified ACOT6 +OMIM:614266 skos:exactMatch UMLS:C0004763 Unspecified barrett esophagus +OMIM:614266 skos:exactMatch UMLS:C0279628 Unspecified barrett esophagus +OMIM:614265 skos:exactMatch UMLS:C3280314 Unspecified combined malonic and methylmalonic aciduria +OMIM:312210 skos:exactMatch UMLS:C1839408 Unspecified radiation sensitivity of natural killer activity +OMIM:614264 skos:exactMatch UMLS:C1824199 Unspecified ARHGAP30 +OMIM:614264 skos:exactMatch HGNC_symbol:ARHGAP30 Unspecified ARHGAP30 +OMIM:614264 skos:exactMatch HGNC:27414 Unspecified ARHGAP30 +OMIM:614263 skos:exactMatch UMLS:C3280313 Unspecified None +OMIM:614263 skos:exactMatch HGNC:37125 Unspecified None +OMIM:614263 skos:exactMatch HGNC_symbol:BACE1-AS Unspecified None +OMIM:614262 skos:exactMatch UMLS:C3280309 Unspecified arthrogryposis, perthes disease, and upward gaze palsy +OMIM:614261 skos:exactMatch UMLS:C3280296 Unspecified microcephaly-capillary malformation syndrome +OMIM:614261 skos:exactMatch ORPHA:294016 Unspecified microcephaly-capillary malformation syndrome +OMIM:614260 skos:exactMatch UMLS:C1428691 Unspecified C9ORF72 +OMIM:614260 skos:exactMatch HGNC:28337 Unspecified C9ORF72 +OMIM:614260 skos:exactMatch HGNC_symbol:C9orf72 Unspecified C9ORF72 +OMIM:614260 skos:exactMatch UMLS:C3888102 Unspecified C9ORF72 +OMIM:602280 skos:exactMatch HGNC:12423 Unspecified TULP1 +OMIM:602280 skos:exactMatch HGNC_symbol:TULP1 Unspecified TULP1 +OMIM:602280 skos:exactMatch UMLS:C1421241 Unspecified TULP1 +OMIM:602281 skos:exactMatch HGNC_symbol:MFGE8 Unspecified MFGE8 +OMIM:602281 skos:exactMatch HGNC:7036 Unspecified MFGE8 +OMIM:602281 skos:exactMatch UMLS:C1334502 Unspecified MFGE8 +OMIM:602282 skos:exactMatch UMLS:C1414254 Unspecified LPAR1 +OMIM:602282 skos:exactMatch HGNC_symbol:LPAR1 Unspecified LPAR1 +OMIM:602282 skos:exactMatch HGNC:3166 Unspecified LPAR1 +OMIM:602283 skos:exactMatch HGNC_symbol:CCL8 Unspecified CCL8 +OMIM:602283 skos:exactMatch UMLS:C1332693 Unspecified CCL8 +OMIM:602283 skos:exactMatch HGNC:10635 Unspecified CCL8 +OMIM:602284 skos:exactMatch HGNC:1075 Unspecified BMP8B +OMIM:602284 skos:exactMatch HGNC_symbol:BMP8B Unspecified BMP8B +OMIM:602284 skos:exactMatch UMLS:C1412806 Unspecified BMP8B +OMIM:602285 skos:exactMatch HGNC:7163 Unspecified MMP17 +OMIM:602285 skos:exactMatch HGNC_symbol:MMP17 Unspecified MMP17 +OMIM:602285 skos:exactMatch UMLS:C1417206 Unspecified MMP17 +OMIM:602286 skos:exactMatch HGNC_symbol:SC5D Unspecified SC5D +OMIM:602286 skos:exactMatch UMLS:C1846421 Unspecified SC5D +OMIM:602286 skos:exactMatch UMLS:C1419827 Unspecified SC5D +OMIM:602286 skos:exactMatch HGNC:10547 Unspecified SC5D +OMIM:602287 skos:exactMatch HGNC:13799 Unspecified ERP29 +OMIM:602287 skos:exactMatch HGNC_symbol:ERP29 Unspecified ERP29 +OMIM:602287 skos:exactMatch UMLS:C1422199 Unspecified ERP29 +OMIM:602288 skos:exactMatch UMLS:C1419768 Unspecified RTKN +OMIM:602288 skos:exactMatch HGNC_symbol:RTKN Unspecified RTKN +OMIM:602288 skos:exactMatch HGNC:10466 Unspecified RTKN +OMIM:602267 skos:exactMatch HGNC:215 Unspecified ADAM8 +OMIM:602267 skos:exactMatch UMLS:C1412206 Unspecified ADAM8 +OMIM:602267 skos:exactMatch HGNC_symbol:ADAM8 Unspecified ADAM8 +OMIM:300241 skos:exactMatch HGNC_symbol:GPR34 Unspecified GPR34 +OMIM:300241 skos:exactMatch HGNC:4490 Unspecified GPR34 +OMIM:300241 skos:exactMatch UMLS:C1415227 Unspecified GPR34 +OMIM:602268 skos:exactMatch HGNC_symbol:AOC2 Unspecified AOC2 +OMIM:602268 skos:exactMatch HGNC:549 Unspecified AOC2 +OMIM:602268 skos:exactMatch UMLS:C1412430 Unspecified AOC2 +OMIM:602269 skos:exactMatch HGNC:728 Unspecified ARVCF +OMIM:602269 skos:exactMatch UMLS:C1412567 Unspecified ARVCF +OMIM:602269 skos:exactMatch HGNC_symbol:ARVCF Unspecified ARVCF +OMIM:300243 skos:exactMatch UMLS:C2678194 Unspecified intellectual developmental disorder, x-linked, syndromic, christianson iia +OMIM:300243 skos:exactMatch ORPHA:85278 Unspecified intellectual developmental disorder, x-linked, syndromic, christianson iia +OMIM:300242 skos:exactMatch HGNC_symbol:SLC25A14 Unspecified SLC25A14 +OMIM:300242 skos:exactMatch UMLS:C1420155 Unspecified SLC25A14 +OMIM:300242 skos:exactMatch HGNC:10984 Unspecified SLC25A14 +OMIM:300245 skos:exactMatch UMLS:C1846128 Unspecified ptosis, hereditary congenital 2 +OMIM:300244 skos:exactMatch UMLS:C1846129 Unspecified terminal osseous dysplasia +OMIM:300244 skos:exactMatch ORPHA:88630 Unspecified terminal osseous dysplasia +OMIM:300247 skos:exactMatch HGNC_symbol:BMP15 Unspecified BMP15 +OMIM:300247 skos:exactMatch UMLS:C1332423 Unspecified BMP15 +OMIM:300247 skos:exactMatch HGNC:1068 Unspecified BMP15 +OMIM:300246 skos:exactMatch HGNC:8656 Unspecified PCDH11X +OMIM:300246 skos:exactMatch HGNC_symbol:PCDH11X Unspecified PCDH11X +OMIM:300246 skos:exactMatch UMLS:C1418306 Unspecified PCDH11X +OMIM:300249 skos:exactMatch HGNC_symbol:TIMM17B Unspecified TIMM17B +OMIM:300249 skos:exactMatch UMLS:C1424892 Unspecified TIMM17B +OMIM:300249 skos:exactMatch HGNC:17310 Unspecified TIMM17B +OMIM:300248 skos:exactMatch UMLS:C0021171 Unspecified IKBKG +OMIM:300248 skos:exactMatch HGNC_symbol:IKBKG Unspecified IKBKG +OMIM:300248 skos:exactMatch UMLS:C1846008 Unspecified IKBKG +OMIM:300248 skos:exactMatch UMLS:C5394563 Unspecified IKBKG +OMIM:300248 skos:exactMatch UMLS:C5394562 Unspecified IKBKG +OMIM:300248 skos:exactMatch UMLS:C1970879 Unspecified IKBKG +OMIM:300248 skos:exactMatch UMLS:C4749069 Unspecified IKBKG +OMIM:300248 skos:exactMatch HGNC:5961 Unspecified IKBKG +OMIM:300248 skos:exactMatch UMLS:C1416380 Unspecified IKBKG +OMIM:614249 skos:exactMatch UMLS:C3280265 Unspecified intellectual developmental disorder, autosomal recessive 18, with or without epilepsy +OMIM:614248 skos:exactMatch HGNC_symbol:PEAK1 Unspecified None +OMIM:614248 skos:exactMatch UMLS:C3280264 Unspecified None +OMIM:614248 skos:exactMatch HGNC:29431 Unspecified None +OMIM:614247 skos:exactMatch UMLS:C1826094 Unspecified MIR519D +OMIM:614247 skos:exactMatch HGNC:32112 Unspecified MIR519D +OMIM:614247 skos:exactMatch HGNC_symbol:MIR519D Unspecified MIR519D +OMIM:614246 skos:exactMatch HGNC:25875 Unspecified NAA60 +OMIM:614246 skos:exactMatch UMLS:C2681858 Unspecified NAA60 +OMIM:614246 skos:exactMatch HGNC_symbol:NAA60 Unspecified NAA60 +OMIM:614256 skos:exactMatch UMLS:C3280284 Unspecified intellectual developmental disorder, autosomal dominant 10 +OMIM:614255 skos:exactMatch ORPHA:178469 Unspecified nescav syndrome +OMIM:614255 skos:exactMatch UMLS:C5393830 Unspecified nescav syndrome +OMIM:614254 skos:exactMatch UMLS:C3280282 Unspecified neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant +OMIM:614254 skos:exactMatch ORPHA:178469 Unspecified neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant +OMIM:253200 skos:exactMatch UMLS:C0026709 Unspecified mucopolysaccharidosis, iia 6 +OMIM:253200 skos:exactMatch ORPHA:583 Unspecified mucopolysaccharidosis, iia 6 +OMIM:614252 skos:exactMatch UMLS:C3280275 Unspecified aneurysm, intracranial berry, 11 +OMIM:614251 skos:exactMatch UMLS:C3280271 Unspecified parkinson disease 18, autosomal dominant, susceptibility to +OMIM:614250 skos:exactMatch UMLS:C3280266 Unspecified narcolepsy 7 +OMIM:602270 skos:exactMatch HGNC_symbol:ATOX1 Unspecified ATOX1 +OMIM:602270 skos:exactMatch HGNC:798 Unspecified ATOX1 +OMIM:602270 skos:exactMatch UMLS:C1412627 Unspecified ATOX1 +OMIM:602271 skos:exactMatch UMLS:C1865695 Unspecified spondylometaphyseal dysplasia, axial +OMIM:602272 skos:exactMatch UMLS:C1420639 Unspecified TCF4 +OMIM:602272 skos:exactMatch HGNC_symbol:TCF4 Unspecified TCF4 +OMIM:602272 skos:exactMatch HGNC:11634 Unspecified TCF4 +OMIM:602273 skos:exactMatch UMLS:C1414951 Unspecified GALNT1 +OMIM:602273 skos:exactMatch HGNC_symbol:GALNT1 Unspecified GALNT1 +OMIM:602273 skos:exactMatch HGNC:4123 Unspecified GALNT1 +OMIM:602274 skos:exactMatch UMLS:C1414952 Unspecified GALNT2 +OMIM:602274 skos:exactMatch UMLS:C5394387 Unspecified GALNT2 +OMIM:602274 skos:exactMatch HGNC_symbol:GALNT2 Unspecified GALNT2 +OMIM:602274 skos:exactMatch HGNC:4124 Unspecified GALNT2 +OMIM:602275 skos:exactMatch UMLS:C1415355 Unspecified GUCA1B +OMIM:602275 skos:exactMatch HGNC_symbol:GUCA1B Unspecified GUCA1B +OMIM:602275 skos:exactMatch HGNC:4679 Unspecified GUCA1B +OMIM:602276 skos:exactMatch UMLS:C1420568 Unspecified TADA2A +OMIM:602276 skos:exactMatch HGNC_symbol:TADA2A Unspecified TADA2A +OMIM:602276 skos:exactMatch HGNC:11531 Unspecified TADA2A +OMIM:602277 skos:exactMatch HGNC_symbol:ZNF184 Unspecified ZNF184 +OMIM:602277 skos:exactMatch UMLS:C1421674 Unspecified ZNF184 +OMIM:602277 skos:exactMatch HGNC:12975 Unspecified ZNF184 +OMIM:602256 skos:exactMatch HGNC_symbol:PPEF2 Unspecified PPEF2 +OMIM:602256 skos:exactMatch UMLS:C1418784 Unspecified PPEF2 +OMIM:602256 skos:exactMatch HGNC:9244 Unspecified PPEF2 +OMIM:602257 skos:exactMatch HGNC:1665 Unspecified SCARB2 +OMIM:602257 skos:exactMatch UMLS:C1413219 Unspecified SCARB2 +OMIM:602257 skos:exactMatch HGNC_symbol:SCARB2 Unspecified SCARB2 +OMIM:300210 skos:exactMatch UMLS:C1846174 Unspecified intellectual developmental disorder, X-linked 58 +OMIM:602259 skos:exactMatch HGNC_symbol:TTC3 Unspecified TTC3 +OMIM:602259 skos:exactMatch HGNC:12393 Unspecified TTC3 +OMIM:602259 skos:exactMatch UMLS:C1421214 Unspecified TTC3 +OMIM:182410 skos:exactMatch UMLS:C0282492 Unspecified sneddon syndrome +OMIM:300212 skos:exactMatch HGNC:9989 Unspecified RGN +OMIM:300212 skos:exactMatch HGNC_symbol:RGN Unspecified RGN +OMIM:300212 skos:exactMatch UMLS:C1419366 Unspecified RGN +OMIM:300211 skos:exactMatch UMLS:C1846173 Unspecified episodic muscle weakness, X-linked +OMIM:300214 skos:exactMatch UMLS:C1418666 Unspecified PLXNB3 +OMIM:300214 skos:exactMatch HGNC_symbol:PLXNB3 Unspecified PLXNB3 +OMIM:300214 skos:exactMatch HGNC:9105 Unspecified PLXNB3 +OMIM:300213 skos:exactMatch UMLS:C1825270 Unspecified CXX1 +OMIM:300213 skos:exactMatch HGNC:2569 Unspecified CXX1 +OMIM:300213 skos:exactMatch HGNC_symbol:RTL8C Unspecified CXX1 +OMIM:300216 skos:exactMatch UMLS:C0154832 Unspecified coats disease +OMIM:300215 skos:exactMatch ORPHA:452 Unspecified lissencephaly, x-linked, 2 +OMIM:300215 skos:exactMatch UMLS:C1846171 Unspecified lissencephaly, x-linked, 2 +OMIM:300218 skos:exactMatch UMLS:C1846170 Unspecified intellectual developmental disorder, x-linked, syndromic 7 +OMIM:614239 skos:exactMatch HGNC:26509 Unspecified PHETA1 +OMIM:614239 skos:exactMatch UMLS:C1825239 Unspecified PHETA1 +OMIM:614239 skos:exactMatch HGNC_symbol:PHETA1 Unspecified PHETA1 +OMIM:300217 skos:exactMatch HGNC_symbol:RAI2 Unspecified RAI2 +OMIM:300217 skos:exactMatch HGNC:9835 Unspecified RAI2 +OMIM:300217 skos:exactMatch UMLS:C1419250 Unspecified RAI2 +OMIM:614238 skos:exactMatch UMLS:C3280253 Unspecified hypotrichosis 10 +OMIM:614237 skos:exactMatch UMLS:C3280252 Unspecified hypotrichosis 9 +OMIM:300219 skos:exactMatch UMLS:C1846169 Unspecified myotubular myopathy with abnormal genital development +OMIM:614236 skos:exactMatch HGNC:25582 Unspecified SLC38A7 +OMIM:614236 skos:exactMatch UMLS:C2239930 Unspecified SLC38A7 +OMIM:614236 skos:exactMatch HGNC_symbol:SLC38A7 Unspecified SLC38A7 +OMIM:614235 skos:exactMatch HGNC:26974 Unspecified PDZD8 +OMIM:614235 skos:exactMatch HGNC_symbol:PDZD8 Unspecified PDZD8 +OMIM:614235 skos:exactMatch UMLS:C1428638 Unspecified PDZD8 +OMIM:616897 skos:exactMatch UMLS:C4225162 Unspecified osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia +OMIM:616897 skos:exactMatch ORPHA:457378 Unspecified osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia +OMIM:614245 skos:exactMatch UMLS:C2240360 Unspecified ACSF3 +OMIM:614245 skos:exactMatch HGNC_symbol:ACSF3 Unspecified ACSF3 +OMIM:614245 skos:exactMatch HGNC:27288 Unspecified ACSF3 +OMIM:616898 skos:exactMatch UMLS:C4225666 Unspecified chromosome 15q14 deletion syndrome +OMIM:614244 skos:exactMatch HGNC:28995 Unspecified PDXDC1 +OMIM:614244 skos:exactMatch HGNC_symbol:PDXDC1 Unspecified PDXDC1 +OMIM:614244 skos:exactMatch UMLS:C2239806 Unspecified PDXDC1 +OMIM:614243 skos:exactMatch HGNC_symbol:OPLAH Unspecified OPLAH +OMIM:614243 skos:exactMatch UMLS:C1417961 Unspecified OPLAH +OMIM:614243 skos:exactMatch HGNC:8149 Unspecified OPLAH +OMIM:616899 skos:exactMatch UMLS:C2828748 Unspecified TBCK +OMIM:616899 skos:exactMatch HGNC_symbol:TBCK Unspecified TBCK +OMIM:616899 skos:exactMatch HGNC:28261 Unspecified TBCK +OMIM:314850 skos:exactMatch HGNC_symbol:XK Unspecified XK +OMIM:314850 skos:exactMatch HGNC:12811 Unspecified XK +OMIM:314850 skos:exactMatch UMLS:C1421537 Unspecified XK +OMIM:614242 skos:exactMatch HGNC:23520 Unspecified SLC16A9 +OMIM:614242 skos:exactMatch HGNC_symbol:SLC16A9 Unspecified SLC16A9 +OMIM:614242 skos:exactMatch UMLS:C1428121 Unspecified SLC16A9 +OMIM:614241 skos:exactMatch HGNC_symbol:LCLAT1 Unspecified LCLAT1 +OMIM:614241 skos:exactMatch UMLS:C1537626 Unspecified LCLAT1 +OMIM:614241 skos:exactMatch HGNC:26756 Unspecified LCLAT1 +OMIM:614240 skos:exactMatch UMLS:C1825240 Unspecified PHETA2 +OMIM:614240 skos:exactMatch HGNC:27161 Unspecified PHETA2 +OMIM:614240 skos:exactMatch HGNC_symbol:PHETA2 Unspecified PHETA2 +OMIM:602260 skos:exactMatch UMLS:C1865696 Unspecified PER1 +OMIM:602260 skos:exactMatch HGNC:8845 Unspecified PER1 +OMIM:602260 skos:exactMatch HGNC_symbol:PER1 Unspecified PER1 +OMIM:602260 skos:exactMatch UMLS:C1418464 Unspecified PER1 +OMIM:602261 skos:exactMatch HGNC:7161 Unspecified MMP15 +OMIM:602261 skos:exactMatch HGNC_symbol:MMP15 Unspecified MMP15 +OMIM:602261 skos:exactMatch UMLS:C1417204 Unspecified MMP15 +OMIM:602262 skos:exactMatch HGNC:7162 Unspecified MMP16 +OMIM:602262 skos:exactMatch HGNC_symbol:MMP16 Unspecified MMP16 +OMIM:602262 skos:exactMatch UMLS:C1417205 Unspecified MMP16 +OMIM:602264 skos:exactMatch UMLS:C1420365 Unspecified SPOCK1 +OMIM:602264 skos:exactMatch HGNC_symbol:SPOCK1 Unspecified SPOCK1 +OMIM:602264 skos:exactMatch HGNC:11251 Unspecified SPOCK1 +OMIM:602265 skos:exactMatch UMLS:C1417664 Unspecified NEDD9 +OMIM:602265 skos:exactMatch HGNC:7733 Unspecified NEDD9 +OMIM:602265 skos:exactMatch HGNC_symbol:NEDD9 Unspecified NEDD9 +OMIM:602245 skos:exactMatch HGNC_symbol:GTPBP1 Unspecified GTPBP1 +OMIM:602245 skos:exactMatch HGNC:4669 Unspecified GTPBP1 +OMIM:602245 skos:exactMatch UMLS:C1415351 Unspecified GTPBP1 +OMIM:602246 skos:exactMatch HGNC:12984 Unspecified ZNF193 +OMIM:602246 skos:exactMatch UMLS:C1421681 Unspecified ZNF193 +OMIM:602246 skos:exactMatch HGNC_symbol:ZSCAN9 Unspecified ZNF193 +OMIM:602247 skos:exactMatch UMLS:C1865704 Unspecified xanthomatosis, susceptibility to +OMIM:300221 skos:exactMatch UMLS:C1846167 Unspecified lymphoma, hodgkin, X-linked pseudoautosomal +OMIM:602248 skos:exactMatch UMLS:C0221011 Unspecified malignant atrophic papulosis +OMIM:602249 skos:exactMatch UMLS:C1865699 Unspecified progeroid facial appearance with hand anomalies +OMIM:300223 skos:exactMatch UMLS:C1416985 Unspecified MAGEC1 +OMIM:300223 skos:exactMatch HGNC_symbol:MAGEC1 Unspecified MAGEC1 +OMIM:300223 skos:exactMatch HGNC:6812 Unspecified MAGEC1 +OMIM:300222 skos:exactMatch UMLS:C1416511 Unspecified ITM2A +OMIM:300222 skos:exactMatch HGNC_symbol:ITM2A Unspecified ITM2A +OMIM:300222 skos:exactMatch HGNC:6173 Unspecified ITM2A +OMIM:300225 skos:exactMatch HGNC_symbol:NOX1 Unspecified NOX1 +OMIM:300225 skos:exactMatch UMLS:C1456389 Unspecified NOX1 +OMIM:300225 skos:exactMatch HGNC:7889 Unspecified NOX1 +OMIM:300224 skos:exactMatch HGNC_symbol:MAGED1 Unspecified MAGED1 +OMIM:300224 skos:exactMatch UMLS:C1334472 Unspecified MAGED1 +OMIM:300224 skos:exactMatch HGNC:6813 Unspecified MAGED1 +OMIM:300227 skos:exactMatch HGNC:10580 Unspecified SCML1 +OMIM:300227 skos:exactMatch HGNC_symbol:SCML1 Unspecified SCML1 +OMIM:300227 skos:exactMatch UMLS:C1419851 Unspecified SCML1 +OMIM:300226 skos:exactMatch UMLS:C1420261 Unspecified SMPX +OMIM:300226 skos:exactMatch HGNC_symbol:SMPX Unspecified SMPX +OMIM:300226 skos:exactMatch HGNC:11122 Unspecified SMPX +OMIM:616890 skos:exactMatch UMLS:C4225167 Unspecified split-foot malformation with mesoaxial polydactyly +OMIM:616891 skos:exactMatch HGNC:52297 Unspecified None +OMIM:616891 skos:exactMatch UMLS:C4225446 Unspecified None +OMIM:616891 skos:exactMatch HGNC_symbol:STRIT1 Unspecified None +OMIM:300229 skos:exactMatch UMLS:C1421438 Unspecified VCX +OMIM:300229 skos:exactMatch HGNC_symbol:VCX Unspecified VCX +OMIM:300229 skos:exactMatch HGNC:12667 Unspecified VCX +OMIM:614229 skos:exactMatch UMLS:C3280226 Unspecified spinocerebellar ataxia, autosomal recessive 11 +OMIM:614228 skos:exactMatch UMLS:C3280220 Unspecified charcot-marie-tooth disease, axonal, iia 2o +OMIM:616892 skos:exactMatch UMLS:C4225166 Unspecified nephrotic syndrome, iia 12 +OMIM:300228 skos:exactMatch UMLS:C1846164 Unspecified testicular germ cell tumor 1 +OMIM:616893 skos:exactMatch UMLS:C4225165 Unspecified nephrotic syndrome, iia 13 +OMIM:616893 skos:exactMatch ORPHA:656 Unspecified nephrotic syndrome, iia 13 +OMIM:614227 skos:exactMatch UMLS:C3280216 Unspecified hyperuricemic nephropathy, familial juvenile, 3 +OMIM:614226 skos:exactMatch UMLS:C3280215 Unspecified holoprosencephaly 11 +OMIM:241200 skos:exactMatch UMLS:C1855849 Unspecified bartter syndrome, iia 2, antenatal +OMIM:616894 skos:exactMatch UMLS:C4225164 Unspecified robinow syndrome, autosomal dominant 3 +OMIM:616895 skos:exactMatch HGNC:49644 Unspecified SAMMSON +OMIM:616895 skos:exactMatch UMLS:C3815310 Unspecified SAMMSON +OMIM:616895 skos:exactMatch HGNC_symbol:SAMMSON Unspecified SAMMSON +OMIM:614225 skos:exactMatch UMLS:C3280214 Unspecified warburg micro syndrome 2 +OMIM:616896 skos:exactMatch UMLS:C4225163 Unspecified mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) +OMIM:614224 skos:exactMatch UMLS:C3280205 Unspecified retinal arterial macroaneurysm with supravalvular pulmonic stenosis +OMIM:614234 skos:exactMatch HGNC_symbol:PIFO Unspecified PIFO +OMIM:614234 skos:exactMatch HGNC:27009 Unspecified PIFO +OMIM:614234 skos:exactMatch UMLS:C1823708 Unspecified PIFO +OMIM:616886 skos:exactMatch UMLS:C3542736 Unspecified GSE1 +OMIM:616886 skos:exactMatch HGNC_symbol:GSE1 Unspecified GSE1 +OMIM:616886 skos:exactMatch HGNC:28979 Unspecified GSE1 +OMIM:614233 skos:exactMatch UMLS:C2681535 Unspecified hyperpigmentation, familial progressive, 1 +OMIM:616887 skos:exactMatch UMLS:C4225168 Unspecified intellectual developmental disorder, autosomal recessive 52 +OMIM:614232 skos:exactMatch UMLS:C1857550 Unspecified HSD11B2 +OMIM:614232 skos:exactMatch HGNC_symbol:HSD11B2 Unspecified HSD11B2 +OMIM:614232 skos:exactMatch HGNC:5209 Unspecified HSD11B2 +OMIM:616888 skos:exactMatch UMLS:C1538354 Unspecified TMEM8B +OMIM:616888 skos:exactMatch HGNC:21427 Unspecified TMEM8B +OMIM:616888 skos:exactMatch HGNC_symbol:TMEM8B Unspecified TMEM8B +OMIM:616889 skos:exactMatch HGNC_symbol:CEP68 Unspecified CEP68 +OMIM:616889 skos:exactMatch HGNC:29076 Unspecified CEP68 +OMIM:616889 skos:exactMatch UMLS:C1824712 Unspecified CEP68 +OMIM:614231 skos:exactMatch UMLS:C3280240 Unspecified microcephaly, epilepsy, and diabetes syndrome 1 +OMIM:312200 skos:exactMatch UMLS:C1839409 Unspecified radial loop, plain, on right index finger +OMIM:614230 skos:exactMatch UMLS:C3280231 Unspecified chromosome 8q21.11 deletion syndrome +OMIM:614230 skos:exactMatch ORPHA:284160 Unspecified chromosome 8q21.11 deletion syndrome +OMIM:194400 skos:exactMatch UMLS:C1860231 Unspecified xeroderma pigmentosum, autosomal dominant, mild +OMIM:228250 skos:exactMatch UMLS:C1856789 Unspecified femur, unilateral bifid, with monodactylous ectrodactyly +OMIM:602250 skos:exactMatch HGNC:11924 Unspecified TNFRSF9 +OMIM:602250 skos:exactMatch UMLS:C1420813 Unspecified TNFRSF9 +OMIM:602250 skos:exactMatch HGNC_symbol:TNFRSF9 Unspecified TNFRSF9 +OMIM:602251 skos:exactMatch HGNC:11814 Unspecified TIMM10 +OMIM:602251 skos:exactMatch HGNC_symbol:TIMM10 Unspecified TIMM10 +OMIM:602251 skos:exactMatch UMLS:C1420738 Unspecified TIMM10 +OMIM:602252 skos:exactMatch UMLS:C1865698 Unspecified mitochondrial intermembrane space protein tim12, yeast, homolog of +OMIM:602253 skos:exactMatch UMLS:C1416660 Unspecified KLF4 +OMIM:602253 skos:exactMatch HGNC_symbol:KLF4 Unspecified KLF4 +OMIM:602253 skos:exactMatch HGNC:6348 Unspecified KLF4 +OMIM:602254 skos:exactMatch UMLS:C1865697 Unspecified SRRD +OMIM:602254 skos:exactMatch HGNC:33910 Unspecified SRRD +OMIM:602254 skos:exactMatch HGNC_symbol:SRRD Unspecified SRRD +OMIM:602255 skos:exactMatch HGNC:11404 Unspecified STK25 +OMIM:602255 skos:exactMatch UMLS:C1420477 Unspecified STK25 +OMIM:602255 skos:exactMatch HGNC_symbol:STK25 Unspecified STK25 +OMIM:241410 skos:exactMatch UMLS:C1855840 Unspecified hypoparathyroidism-retardation-dysmorphism syndrome +OMIM:182590 skos:exactMatch HGNC_symbol:TFF2 Unspecified TFF2 +OMIM:182590 skos:exactMatch HGNC:11756 Unspecified TFF2 +OMIM:182590 skos:exactMatch UMLS:C1420701 Unspecified TFF2 +OMIM:253400 skos:exactMatch UMLS:C0152109 Unspecified spinal muscular atrophy, iia 3 +OMIM:194557 skos:exactMatch HGNC:12992 Unspecified ZNF20 +OMIM:194557 skos:exactMatch UMLS:C1421689 Unspecified ZNF20 +OMIM:194557 skos:exactMatch HGNC_symbol:ZNF20 Unspecified ZNF20 +OMIM:194558 skos:exactMatch UMLS:C1421841 Unspecified ZNF83 +OMIM:194558 skos:exactMatch HGNC_symbol:ZNF83 Unspecified ZNF83 +OMIM:194558 skos:exactMatch HGNC:13158 Unspecified ZNF83 +OMIM:194550 skos:exactMatch HGNC:13108 Unspecified MZF1 +OMIM:194550 skos:exactMatch HGNC_symbol:MZF1 Unspecified MZF1 +OMIM:194550 skos:exactMatch UMLS:C1826337 Unspecified MZF1 +OMIM:194551 skos:exactMatch UMLS:C1421834 Unspecified ZNF77 +OMIM:194551 skos:exactMatch HGNC_symbol:ZNF77 Unspecified ZNF77 +OMIM:194551 skos:exactMatch HGNC:13150 Unspecified ZNF77 +OMIM:194552 skos:exactMatch UMLS:C1421837 Unspecified ZNF79 +OMIM:194552 skos:exactMatch HGNC_symbol:ZNF79 Unspecified ZNF79 +OMIM:194552 skos:exactMatch HGNC:13153 Unspecified ZNF79 +OMIM:194553 skos:exactMatch UMLS:C1421839 Unspecified ZNF80 +OMIM:194553 skos:exactMatch HGNC_symbol:ZNF80 Unspecified ZNF80 +OMIM:194553 skos:exactMatch HGNC:13155 Unspecified ZNF80 +OMIM:194554 skos:exactMatch UMLS:C1421801 Unspecified ZNF45 +OMIM:194554 skos:exactMatch HGNC_symbol:ZNF45 Unspecified ZNF45 +OMIM:194554 skos:exactMatch HGNC:13111 Unspecified ZNF45 +OMIM:194555 skos:exactMatch UMLS:C1421713 Unspecified ZNF224 +OMIM:194555 skos:exactMatch HGNC_symbol:ZNF224 Unspecified ZNF224 +OMIM:194555 skos:exactMatch HGNC:13017 Unspecified ZNF224 +OMIM:194556 skos:exactMatch HGNC:12924 Unspecified ZNF14 +OMIM:194556 skos:exactMatch UMLS:C1421631 Unspecified ZNF14 +OMIM:194556 skos:exactMatch HGNC_symbol:ZNF14 Unspecified ZNF14 +OMIM:614389 skos:exactMatch UMLS:C3280670 Unspecified pregnancy loss, recurrent, susceptibility to, 1 +OMIM:614399 skos:exactMatch UMLS:C3541476 Unspecified myopathy, areflexia, respiratory distress, and dysphagia, early-onset +OMIM:614399 skos:exactMatch UMLS:C3280679 Unspecified myopathy, areflexia, respiratory distress, and dysphagia, early-onset +OMIM:614398 skos:exactMatch HGNC:29283 Unspecified JCAD +OMIM:614398 skos:exactMatch UMLS:C1428823 Unspecified JCAD +OMIM:614398 skos:exactMatch HGNC_symbol:JCAD Unspecified JCAD +OMIM:614397 skos:exactMatch UMLS:C1825980 Unspecified MFSD2A +OMIM:614397 skos:exactMatch HGNC_symbol:MFSD2A Unspecified MFSD2A +OMIM:614397 skos:exactMatch HGNC:25897 Unspecified MFSD2A +OMIM:614397 skos:exactMatch UMLS:C4225310 Unspecified MFSD2A +OMIM:614396 skos:exactMatch UMLS:C1825394 Unspecified GPATCH8 +OMIM:614396 skos:exactMatch HGNC:29066 Unspecified GPATCH8 +OMIM:614396 skos:exactMatch HGNC_symbol:GPATCH8 Unspecified GPATCH8 +OMIM:614395 skos:exactMatch UMLS:C3280677 Unspecified graft-versus-host disease, susceptibility to +OMIM:614395 skos:exactMatch UMLS:C3280678 Unspecified graft-versus-host disease, susceptibility to +OMIM:614394 skos:exactMatch UMLS:C1825566 Unspecified IFT20 +OMIM:614394 skos:exactMatch HGNC_symbol:IFT20 Unspecified IFT20 +OMIM:614394 skos:exactMatch HGNC:30989 Unspecified IFT20 +OMIM:614393 skos:exactMatch UMLS:C1427460 Unspecified OARD1 +OMIM:614393 skos:exactMatch HGNC_symbol:OARD1 Unspecified OARD1 +OMIM:614393 skos:exactMatch HGNC:21257 Unspecified OARD1 +OMIM:614392 skos:exactMatch UMLS:C1427031 Unspecified TDRD3 +OMIM:614392 skos:exactMatch HGNC:20612 Unspecified TDRD3 +OMIM:614392 skos:exactMatch HGNC_symbol:TDRD3 Unspecified TDRD3 +OMIM:614391 skos:exactMatch UMLS:C3280674 Unspecified pregnancy loss, recurrent, susceptibility to, 3 +OMIM:614390 skos:exactMatch UMLS:C3280672 Unspecified pregnancy loss, recurrent, susceptibility to, 2 +OMIM:216400 skos:exactMatch UMLS:C0751039 Unspecified Cockayne syndrome a +OMIM:302700 skos:exactMatch UMLS:C1844884 Unspecified cerebral sclerosis, diffuse, scholz iia +OMIM:228400 skos:exactMatch UMLS:C1856788 Unspecified fever, familial lifelong persistent +OMIM:300098 skos:exactMatch HGNC_symbol:MAGEB2 Unspecified MAGEB2 +OMIM:300098 skos:exactMatch HGNC:6809 Unspecified MAGEB2 +OMIM:300098 skos:exactMatch UMLS:C1416982 Unspecified MAGEB2 +OMIM:300097 skos:exactMatch HGNC_symbol:MAGEB1 Unspecified MAGEB1 +OMIM:300097 skos:exactMatch HGNC:6808 Unspecified MAGEB1 +OMIM:300097 skos:exactMatch UMLS:C1416981 Unspecified MAGEB1 +OMIM:312080 skos:exactMatch ORPHA:702 Unspecified pelizaeus-merzbacher disease +OMIM:312080 skos:exactMatch UMLS:C0205711 Unspecified pelizaeus-merzbacher disease +OMIM:312080 skos:exactMatch ORPHA:280234 Unspecified pelizaeus-merzbacher disease +OMIM:312080 skos:exactMatch ORPHA:280210 Unspecified pelizaeus-merzbacher disease +OMIM:312090 skos:exactMatch HGNC_symbol:SLC10A3 Unspecified SLC10A3 +OMIM:312090 skos:exactMatch HGNC:22979 Unspecified SLC10A3 +OMIM:312090 skos:exactMatch UMLS:C1427831 Unspecified SLC10A3 +OMIM:312095 skos:exactMatch HGNC_symbol:AKAP17A Unspecified AKAP17A +OMIM:312095 skos:exactMatch HGNC:18783 Unspecified AKAP17A +OMIM:312095 skos:exactMatch UMLS:C1824816 Unspecified AKAP17A +OMIM:133600 skos:exactMatch UMLS:C0877431 Unspecified exostoses of heel +OMIM:300153 skos:exactMatch HGNC:6811 Unspecified MAGEB4 +OMIM:300153 skos:exactMatch UMLS:C1416984 Unspecified MAGEB4 +OMIM:300153 skos:exactMatch HGNC_symbol:MAGEB4 Unspecified MAGEB4 +OMIM:604930 skos:exactMatch HGNC_symbol:NCK2 Unspecified NCK2 +OMIM:604930 skos:exactMatch HGNC:7665 Unspecified NCK2 +OMIM:604930 skos:exactMatch UMLS:C1334864 Unspecified NCK2 +OMIM:300152 skos:exactMatch HGNC:6810 Unspecified MAGEB3 +OMIM:300152 skos:exactMatch UMLS:C1416983 Unspecified MAGEB3 +OMIM:300152 skos:exactMatch HGNC_symbol:MAGEB3 Unspecified MAGEB3 +OMIM:604932 skos:exactMatch UMLS:C1418608 Unspecified PKIG +OMIM:604932 skos:exactMatch HGNC_symbol:PKIG Unspecified PKIG +OMIM:604932 skos:exactMatch HGNC:9019 Unspecified PKIG +OMIM:300155 skos:exactMatch UMLS:C3887982 Unspecified retinitis pigmentosa 24 +OMIM:300154 skos:exactMatch UMLS:C1825069 Unspecified ESX1L +OMIM:300154 skos:exactMatch HGNC_symbol:ESX1 Unspecified ESX1L +OMIM:300154 skos:exactMatch HGNC:14865 Unspecified ESX1L +OMIM:604931 skos:exactMatch UMLS:C3551716 Unspecified cortisone reductase deficiency 1 +OMIM:604934 skos:exactMatch HGNC:11582 Unspecified TBCE +OMIM:604934 skos:exactMatch HGNC_symbol:TBCE Unspecified TBCE +OMIM:604934 skos:exactMatch UMLS:C1420597 Unspecified TBCE +OMIM:300157 skos:exactMatch HGNC:3571 Unspecified ACSL4 +OMIM:300157 skos:exactMatch UMLS:C1414520 Unspecified ACSL4 +OMIM:300157 skos:exactMatch HGNC_symbol:ACSL4 Unspecified ACSL4 +OMIM:300156 skos:exactMatch HGNC_symbol:CTAG1B Unspecified CTAG1B +OMIM:300156 skos:exactMatch HGNC:2491 Unspecified CTAG1B +OMIM:300156 skos:exactMatch UMLS:C1413787 Unspecified CTAG1B +OMIM:604933 skos:exactMatch UMLS:C0476089 Unspecified MUTYH +OMIM:604933 skos:exactMatch UMLS:C3272841 Unspecified MUTYH +OMIM:604933 skos:exactMatch HGNC_symbol:MUTYH Unspecified MUTYH +OMIM:604933 skos:exactMatch UMLS:C1860985 Unspecified MUTYH +OMIM:604933 skos:exactMatch UMLS:C1417505 Unspecified MUTYH +OMIM:604933 skos:exactMatch HGNC:7527 Unspecified MUTYH +OMIM:604936 skos:exactMatch HGNC:6329 Unspecified KIR2DL1 +OMIM:604936 skos:exactMatch HGNC_symbol:KIR2DL1 Unspecified KIR2DL1 +OMIM:604936 skos:exactMatch UMLS:C1416643 Unspecified KIR2DL1 +OMIM:300159 skos:exactMatch HGNC:11881 Unspecified TMSB4X +OMIM:300159 skos:exactMatch UMLS:C1420787 Unspecified TMSB4X +OMIM:300159 skos:exactMatch HGNC_symbol:TMSB4X Unspecified TMSB4X +OMIM:604935 skos:exactMatch HGNC_symbol:DMRT2 Unspecified DMRT2 +OMIM:604935 skos:exactMatch UMLS:C1414087 Unspecified DMRT2 +OMIM:604935 skos:exactMatch HGNC:2935 Unspecified DMRT2 +OMIM:300158 skos:exactMatch UMLS:C1846273 Unspecified arthrogryposis, congenital, lower limb, X-linked +OMIM:604938 skos:exactMatch HGNC:6331 Unspecified KIR2DL3 +OMIM:604938 skos:exactMatch HGNC_symbol:KIR2DL3 Unspecified KIR2DL3 +OMIM:604938 skos:exactMatch UMLS:C1416645 Unspecified KIR2DL3 +OMIM:604937 skos:exactMatch HGNC:6330 Unspecified KIR2DL2 +OMIM:604937 skos:exactMatch HGNC_symbol:KIR2DL2 Unspecified KIR2DL2 +OMIM:604937 skos:exactMatch UMLS:C1416644 Unspecified KIR2DL2 +OMIM:133500 skos:exactMatch UMLS:C1851463 Unspecified exchondrosis of pinna, posterior +OMIM:604939 skos:exactMatch UMLS:C1418626 Unspecified PLA2R1 +OMIM:604939 skos:exactMatch HGNC_symbol:PLA2R1 Unspecified PLA2R1 +OMIM:604939 skos:exactMatch HGNC:9042 Unspecified PLA2R1 +OMIM:616910 skos:exactMatch UMLS:C4310799 Unspecified immunodeficiency-centromeric instability-facial anomalies syndrome 3 +OMIM:616911 skos:exactMatch UMLS:C4310798 Unspecified immunodeficiency-centromeric instability-facial anomalies syndrome 4 +OMIM:616912 skos:exactMatch HGNC:20234 Unspecified EVL +OMIM:616912 skos:exactMatch HGNC_symbol:EVL Unspecified EVL +OMIM:616912 skos:exactMatch UMLS:C1426797 Unspecified EVL +OMIM:616913 skos:exactMatch UMLS:C4310797 Unspecified bleeding disorder, platelet-type, 20 +OMIM:616914 skos:exactMatch UMLS:C4310796 Unspecified marfanoid-progeroid-lipodystrophy syndrome +OMIM:616915 skos:exactMatch HGNC:42354 Unspecified ZEB1AS1 +OMIM:616915 skos:exactMatch UMLS:C4310795 Unspecified ZEB1AS1 +OMIM:616915 skos:exactMatch HGNC_symbol:ZEB1-AS1 Unspecified ZEB1AS1 +OMIM:616916 skos:exactMatch HGNC:25082 Unspecified SMAP2 +OMIM:616916 skos:exactMatch UMLS:C2239938 Unspecified SMAP2 +OMIM:616916 skos:exactMatch HGNC_symbol:SMAP2 Unspecified SMAP2 +OMIM:616917 skos:exactMatch UMLS:C4310794 Unspecified neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy +OMIM:616918 skos:exactMatch HGNC_symbol:PIGG Unspecified PIGG +OMIM:616918 skos:exactMatch HGNC:25985 Unspecified PIGG +OMIM:616918 skos:exactMatch UMLS:C1826585 Unspecified PIGG +OMIM:616919 skos:exactMatch HGNC_symbol:FRMPD1 Unspecified FRMPD1 +OMIM:616919 skos:exactMatch HGNC:29159 Unspecified FRMPD1 +OMIM:616919 skos:exactMatch UMLS:C1428803 Unspecified FRMPD1 +OMIM:300160 skos:exactMatch HGNC_symbol:DDX3X Unspecified DDX3X +OMIM:300160 skos:exactMatch HGNC:2745 Unspecified DDX3X +OMIM:300160 skos:exactMatch UMLS:C1413962 Unspecified DDX3X +OMIM:300160 skos:exactMatch UMLS:C5393299 Unspecified DDX3X +OMIM:300162 skos:exactMatch HGNC:751 Unspecified ASMTL +OMIM:300162 skos:exactMatch HGNC_symbol:ASMTL Unspecified ASMTL +OMIM:300162 skos:exactMatch UMLS:C1412586 Unspecified ASMTL +OMIM:300161 skos:exactMatch HGNC:3267 Unspecified EIF2S3 +OMIM:300161 skos:exactMatch UMLS:C1414336 Unspecified EIF2S3 +OMIM:300161 skos:exactMatch HGNC_symbol:EIF2S3 Unspecified EIF2S3 +OMIM:300164 skos:exactMatch HGNC_symbol:INE1 Unspecified INE1 +OMIM:300164 skos:exactMatch UMLS:C1416434 Unspecified INE1 +OMIM:300164 skos:exactMatch HGNC:6060 Unspecified INE1 +OMIM:300163 skos:exactMatch UMLS:C4225599 Unspecified FHL1 +OMIM:300163 skos:exactMatch UMLS:C4225600 Unspecified FHL1 +OMIM:300163 skos:exactMatch HGNC_symbol:FHL1 Unspecified FHL1 +OMIM:300163 skos:exactMatch HGNC:3702 Unspecified FHL1 +OMIM:300163 skos:exactMatch UMLS:C1414612 Unspecified FHL1 +OMIM:300163 skos:exactMatch UMLS:C2678055 Unspecified FHL1 +OMIM:300163 skos:exactMatch UMLS:C2678061 Unspecified FHL1 +OMIM:300163 skos:exactMatch UMLS:C1846010 Unspecified FHL1 +OMIM:300163 skos:exactMatch UMLS:C2749106 Unspecified FHL1 +OMIM:300166 skos:exactMatch ORPHA:2712 Unspecified microphthalmia, syndromic 2 +OMIM:300166 skos:exactMatch ORPHA:568 Unspecified microphthalmia, syndromic 2 +OMIM:300166 skos:exactMatch UMLS:C1846265 Unspecified microphthalmia, syndromic 2 +OMIM:604921 skos:exactMatch UMLS:C1417020 Unspecified MAP4K3 +OMIM:604921 skos:exactMatch HGNC:6865 Unspecified MAP4K3 +OMIM:604921 skos:exactMatch HGNC_symbol:MAP4K3 Unspecified MAP4K3 +OMIM:300165 skos:exactMatch HGNC_symbol:INE2 Unspecified INE2 +OMIM:300165 skos:exactMatch UMLS:C1416435 Unspecified INE2 +OMIM:300165 skos:exactMatch HGNC:6061 Unspecified INE2 +OMIM:300168 skos:exactMatch HGNC:4452 Unspecified GPC4 +OMIM:300168 skos:exactMatch UMLS:C1415196 Unspecified GPC4 +OMIM:300168 skos:exactMatch HGNC_symbol:GPC4 Unspecified GPC4 +OMIM:300168 skos:exactMatch UMLS:C1850627 Unspecified GPC4 +OMIM:604923 skos:exactMatch HGNC:6867 Unspecified MAP4K5 +OMIM:604923 skos:exactMatch UMLS:C1417021 Unspecified MAP4K5 +OMIM:604923 skos:exactMatch HGNC_symbol:MAP4K5 Unspecified MAP4K5 +OMIM:300167 skos:exactMatch HGNC:4866 Unspecified HEPH +OMIM:300167 skos:exactMatch UMLS:C1415510 Unspecified HEPH +OMIM:300167 skos:exactMatch HGNC_symbol:HEPH Unspecified HEPH +OMIM:604922 skos:exactMatch UMLS:C1858032 Unspecified cortical defects, wormian bones, and dentinogenesis imperfecta +OMIM:604925 skos:exactMatch UMLS:C1419221 Unspecified RABAC1 +OMIM:604925 skos:exactMatch HGNC_symbol:RABAC1 Unspecified RABAC1 +OMIM:604925 skos:exactMatch HGNC:9794 Unspecified RABAC1 +OMIM:604924 skos:exactMatch UMLS:C1419588 Unspecified PHAX +OMIM:604924 skos:exactMatch HGNC_symbol:PHAX Unspecified PHAX +OMIM:604924 skos:exactMatch HGNC:10241 Unspecified PHAX +OMIM:300169 skos:exactMatch UMLS:C5231520 Unspecified AIFM1 +OMIM:300169 skos:exactMatch UMLS:C0795910 Unspecified AIFM1 +OMIM:300169 skos:exactMatch UMLS:C3151753 Unspecified AIFM1 +OMIM:300169 skos:exactMatch UMLS:C1826618 Unspecified AIFM1 +OMIM:300169 skos:exactMatch HGNC_symbol:AIFM1 Unspecified AIFM1 +OMIM:300169 skos:exactMatch UMLS:C1846148 Unspecified AIFM1 +OMIM:300169 skos:exactMatch HGNC:8768 Unspecified AIFM1 +OMIM:300169 skos:exactMatch UMLS:C1845095 Unspecified AIFM1 +OMIM:604927 skos:exactMatch UMLS:C1413790 Unspecified CTDP1 +OMIM:604927 skos:exactMatch HGNC_symbol:CTDP1 Unspecified CTDP1 +OMIM:604927 skos:exactMatch HGNC:2498 Unspecified CTDP1 +OMIM:133510 skos:exactMatch HGNC_symbol:ERCC3 Unspecified ERCC3 +OMIM:133510 skos:exactMatch UMLS:C1333357 Unspecified ERCC3 +OMIM:133510 skos:exactMatch HGNC:3435 Unspecified ERCC3 +OMIM:604928 skos:exactMatch UMLS:C1858028 Unspecified wolfram syndrome 2 +OMIM:312150 skos:exactMatch UMLS:C1839440 Unspecified multiple pterygium syndrome, X-linked +OMIM:616900 skos:exactMatch UMLS:C4225161 Unspecified hypotonia, infantile, with psychomotor retardation and characteristic facies 3 +OMIM:616901 skos:exactMatch UMLS:C4310801 Unspecified developmental delay with short stature, dysmorphic facial features, and sparse hair +OMIM:616902 skos:exactMatch UMLS:C4311047 Unspecified chromosome 11p13 deletion syndrome, distal +OMIM:616903 skos:exactMatch UMLS:C4225160 Unspecified thiopurines, poor metabolism of, 2 +OMIM:616904 skos:exactMatch HGNC:23476 Unspecified DOCK5 +OMIM:616904 skos:exactMatch UMLS:C1428090 Unspecified DOCK5 +OMIM:616904 skos:exactMatch HGNC_symbol:DOCK5 Unspecified DOCK5 +OMIM:616905 skos:exactMatch HGNC_symbol:MRFAP1 Unspecified MRFAP1 +OMIM:616905 skos:exactMatch HGNC:24549 Unspecified MRFAP1 +OMIM:616905 skos:exactMatch UMLS:C1537937 Unspecified MRFAP1 +OMIM:616906 skos:exactMatch HGNC_symbol:DNAI7 Unspecified CASC1 +OMIM:616906 skos:exactMatch HGNC:29599 Unspecified CASC1 +OMIM:616906 skos:exactMatch UMLS:C1428880 Unspecified CASC1 +OMIM:616907 skos:exactMatch UMLS:C4310800 Unspecified spastic paraplegia 76, autosomal recessive +OMIM:616908 skos:exactMatch UMLS:C3471468 Unspecified PTCHD4 +OMIM:616908 skos:exactMatch HGNC_symbol:PTCHD4 Unspecified PTCHD4 +OMIM:616908 skos:exactMatch HGNC:21345 Unspecified PTCHD4 +OMIM:300171 skos:exactMatch HGNC:7449 Unspecified MTMR1 +OMIM:300171 skos:exactMatch HGNC_symbol:MTMR1 Unspecified MTMR1 +OMIM:300171 skos:exactMatch UMLS:C1417435 Unspecified MTMR1 +OMIM:616909 skos:exactMatch HGNC_symbol:CCDC68 Unspecified CCDC68 +OMIM:616909 skos:exactMatch HGNC:24350 Unspecified CCDC68 +OMIM:616909 skos:exactMatch UMLS:C1824592 Unspecified CCDC68 +OMIM:300170 skos:exactMatch UMLS:C1510460 Unspecified OFD1 +OMIM:300170 skos:exactMatch HGNC:2567 Unspecified OFD1 +OMIM:300170 skos:exactMatch UMLS:C1846175 Unspecified OFD1 +OMIM:300170 skos:exactMatch UMLS:C1413833 Unspecified OFD1 +OMIM:300170 skos:exactMatch UMLS:C1419610 Unspecified OFD1 +OMIM:300170 skos:exactMatch UMLS:C2749019 Unspecified OFD1 +OMIM:300170 skos:exactMatch HGNC_symbol:OFD1 Unspecified OFD1 +OMIM:300173 skos:exactMatch UMLS:C1416974 Unspecified MAGEA2 +OMIM:300173 skos:exactMatch HGNC_symbol:MAGEA2 Unspecified MAGEA2 +OMIM:300173 skos:exactMatch HGNC:6800 Unspecified MAGEA2 +OMIM:300172 skos:exactMatch HGNC_symbol:CASK Unspecified CASK +OMIM:300172 skos:exactMatch HGNC:1497 Unspecified CASK +OMIM:300172 skos:exactMatch UMLS:C1413128 Unspecified CASK +OMIM:300131 skos:exactMatch UMLS:C1418658 Unspecified PLS3 +OMIM:300131 skos:exactMatch HGNC_symbol:PLS3 Unspecified PLS3 +OMIM:300131 skos:exactMatch HGNC:9091 Unspecified PLS3 +OMIM:300130 skos:exactMatch HGNC:5975 Unspecified IL13RA2 +OMIM:300130 skos:exactMatch UMLS:C1416386 Unspecified IL13RA2 +OMIM:300130 skos:exactMatch HGNC_symbol:IL13RA2 Unspecified IL13RA2 +OMIM:604910 skos:exactMatch HGNC_symbol:CNOT3 Unspecified CNOT3 +OMIM:604910 skos:exactMatch HGNC:7879 Unspecified CNOT3 +OMIM:604910 skos:exactMatch UMLS:C5231456 Unspecified CNOT3 +OMIM:604910 skos:exactMatch UMLS:C1417765 Unspecified CNOT3 +OMIM:300133 skos:exactMatch HGNC:12662 Unspecified VBP1 +OMIM:300133 skos:exactMatch HGNC_symbol:VBP1 Unspecified VBP1 +OMIM:300133 skos:exactMatch UMLS:C1421434 Unspecified VBP1 +OMIM:300132 skos:exactMatch HGNC_symbol:TRO Unspecified TRO +OMIM:300132 skos:exactMatch HGNC:12326 Unspecified TRO +OMIM:300132 skos:exactMatch UMLS:C1421163 Unspecified TRO +OMIM:604912 skos:exactMatch HGNC:11536 Unspecified TAF2 +OMIM:604912 skos:exactMatch HGNC_symbol:TAF2 Unspecified TAF2 +OMIM:604912 skos:exactMatch UMLS:C1336565 Unspecified TAF2 +OMIM:133520 skos:exactMatch UMLS:C1333358 Unspecified ERCC4 +OMIM:133520 skos:exactMatch HGNC:3436 Unspecified ERCC4 +OMIM:133520 skos:exactMatch HGNC_symbol:ERCC4 Unspecified ERCC4 +OMIM:300135 skos:exactMatch UMLS:C1412073 Unspecified ABCB7 +OMIM:300135 skos:exactMatch HGNC_symbol:ABCB7 Unspecified ABCB7 +OMIM:300135 skos:exactMatch HGNC:48 Unspecified ABCB7 +OMIM:604911 skos:exactMatch HGNC_symbol:CNOT4 Unspecified CNOT4 +OMIM:604911 skos:exactMatch HGNC:7880 Unspecified CNOT4 +OMIM:604911 skos:exactMatch UMLS:C1417766 Unspecified CNOT4 +OMIM:300134 skos:exactMatch HGNC:3076 Unspecified DUSP9 +OMIM:300134 skos:exactMatch HGNC_symbol:DUSP9 Unspecified DUSP9 +OMIM:300134 skos:exactMatch UMLS:C1414191 Unspecified DUSP9 +OMIM:604914 skos:exactMatch HGNC_symbol:JMJD6 Unspecified JMJD6 +OMIM:604914 skos:exactMatch HGNC:19355 Unspecified JMJD6 +OMIM:604914 skos:exactMatch UMLS:C1426187 Unspecified JMJD6 +OMIM:300137 skos:exactMatch HGNC:5948 Unspecified IGSF1 +OMIM:300137 skos:exactMatch UMLS:C1416370 Unspecified IGSF1 +OMIM:300137 skos:exactMatch HGNC_symbol:IGSF1 Unspecified IGSF1 +OMIM:300136 skos:exactMatch UMLS:C1848042 Unspecified iia 1 diabetes mellitus, x-linked, susceptibility to +OMIM:604913 skos:exactMatch HGNC_symbol:CNOT7 Unspecified CNOT7 +OMIM:604913 skos:exactMatch UMLS:C1422407 Unspecified CNOT7 +OMIM:604913 skos:exactMatch HGNC:14101 Unspecified CNOT7 +OMIM:300139 skos:exactMatch UMLS:C1334087 Unspecified IGBP1 +OMIM:300139 skos:exactMatch HGNC:5461 Unspecified IGBP1 +OMIM:300139 skos:exactMatch HGNC_symbol:IGBP1 Unspecified IGBP1 +OMIM:604916 skos:exactMatch UMLS:C1858043 Unspecified hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation +OMIM:300138 skos:exactMatch UMLS:C1413485 Unspecified CLIC2 +OMIM:300138 skos:exactMatch HGNC_symbol:CLIC2 Unspecified CLIC2 +OMIM:300138 skos:exactMatch HGNC:2063 Unspecified CLIC2 +OMIM:604915 skos:exactMatch HGNC_symbol:MAP3K13 Unspecified MAP3K13 +OMIM:604915 skos:exactMatch HGNC:6852 Unspecified MAP3K13 +OMIM:604915 skos:exactMatch UMLS:C1417012 Unspecified MAP3K13 +OMIM:604918 skos:exactMatch HGNC:13406 Unspecified PCLO +OMIM:604918 skos:exactMatch HGNC_symbol:PCLO Unspecified PCLO +OMIM:604918 skos:exactMatch UMLS:C1421976 Unspecified PCLO +OMIM:604917 skos:exactMatch HGNC_symbol:CNOT1 Unspecified CNOT1 +OMIM:604917 skos:exactMatch HGNC:7877 Unspecified CNOT1 +OMIM:604917 skos:exactMatch UMLS:C5193131 Unspecified CNOT1 +OMIM:604917 skos:exactMatch UMLS:C1417763 Unspecified CNOT1 +OMIM:604917 skos:exactMatch UMLS:C5436647 Unspecified CNOT1 +OMIM:604919 skos:exactMatch UMLS:C1858042 Unspecified becker nevus syndrome +OMIM:145500 skos:exactMatch UMLS:C0085580 Unspecified hypertension, essential +OMIM:145505 skos:exactMatch UMLS:C1825840 Unspecified ACSM3 +OMIM:145505 skos:exactMatch HGNC_symbol:ACSM3 Unspecified ACSM3 +OMIM:145505 skos:exactMatch HGNC:10522 Unspecified ACSM3 +OMIM:300142 skos:exactMatch HGNC_symbol:PAK3 Unspecified PAK3 +OMIM:300142 skos:exactMatch UMLS:C1418261 Unspecified PAK3 +OMIM:300142 skos:exactMatch HGNC:8592 Unspecified PAK3 +OMIM:300144 skos:exactMatch HGNC:4336 Unspecified GLUD2 +OMIM:300144 skos:exactMatch UMLS:C1415114 Unspecified GLUD2 +OMIM:300144 skos:exactMatch HGNC_symbol:GLUD2 Unspecified GLUD2 +OMIM:300143 skos:exactMatch UMLS:C0796241 Unspecified intellectual developmental disorder, X-linked 21 +OMIM:300143 skos:exactMatch UMLS:C0796206 Unspecified intellectual developmental disorder, X-linked 21 +OMIM:300146 skos:exactMatch HGNC_symbol:CAPN6 Unspecified CAPN6 +OMIM:300146 skos:exactMatch HGNC:1483 Unspecified CAPN6 +OMIM:300146 skos:exactMatch UMLS:C1413116 Unspecified CAPN6 +OMIM:604901 skos:exactMatch UMLS:C1858051 Unspecified north american indian childhood cirrhosis +OMIM:604900 skos:exactMatch UMLS:C4014516 Unspecified DGAT1 +OMIM:604900 skos:exactMatch HGNC:2843 Unspecified DGAT1 +OMIM:604900 skos:exactMatch UMLS:C1414024 Unspecified DGAT1 +OMIM:604900 skos:exactMatch HGNC_symbol:DGAT1 Unspecified DGAT1 +OMIM:133530 skos:exactMatch UMLS:C1333359 Unspecified ERCC5 +OMIM:133530 skos:exactMatch UMLS:C4016040 Unspecified ERCC5 +OMIM:133530 skos:exactMatch HGNC:3437 Unspecified ERCC5 +OMIM:133530 skos:exactMatch HGNC_symbol:ERCC5 Unspecified ERCC5 +OMIM:133530 skos:exactMatch UMLS:C1851443 Unspecified ERCC5 +OMIM:133530 skos:exactMatch UMLS:C0268141 Unspecified ERCC5 +OMIM:300145 skos:exactMatch HGNC:12823 Unspecified XPNPEP2 +OMIM:300145 skos:exactMatch UMLS:C1421543 Unspecified XPNPEP2 +OMIM:300145 skos:exactMatch HGNC_symbol:XPNPEP2 Unspecified XPNPEP2 +OMIM:604903 skos:exactMatch HGNC:11532 Unspecified TAF1A +OMIM:604903 skos:exactMatch HGNC_symbol:TAF1A Unspecified TAF1A +OMIM:604903 skos:exactMatch UMLS:C1420569 Unspecified TAF1A +OMIM:108650 skos:exactMatch UMLS:C1862441 Unspecified spastic ataxia 7, autosomal dominant +OMIM:300148 skos:exactMatch UMLS:C1846278 Unspecified mehmo syndrome +OMIM:300148 skos:exactMatch ORPHA:85282 Unspecified mehmo syndrome +OMIM:300147 skos:exactMatch UMLS:C1846279 Unspecified prostate cancer, hereditary, X-linked 1 +OMIM:604902 skos:exactMatch UMLS:C1332448 Unspecified BRF1 +OMIM:604902 skos:exactMatch HGNC_symbol:BRF1 Unspecified BRF1 +OMIM:604902 skos:exactMatch HGNC:11551 Unspecified BRF1 +OMIM:604905 skos:exactMatch HGNC:11534 Unspecified TAF1C +OMIM:604905 skos:exactMatch HGNC_symbol:TAF1C Unspecified TAF1C +OMIM:604905 skos:exactMatch UMLS:C1420571 Unspecified TAF1C +OMIM:300149 skos:exactMatch HGNC_symbol:CITED1 Unspecified CITED1 +OMIM:300149 skos:exactMatch UMLS:C1413429 Unspecified CITED1 +OMIM:300149 skos:exactMatch HGNC:1986 Unspecified CITED1 +OMIM:604904 skos:exactMatch HGNC:11533 Unspecified TAF1B +OMIM:604904 skos:exactMatch HGNC_symbol:TAF1B Unspecified TAF1B +OMIM:604904 skos:exactMatch UMLS:C1420570 Unspecified TAF1B +OMIM:604907 skos:exactMatch UMLS:C1425349 Unspecified TNFRSF13B +OMIM:604907 skos:exactMatch HGNC_symbol:TNFRSF13B Unspecified TNFRSF13B +OMIM:604907 skos:exactMatch HGNC:18153 Unspecified TNFRSF13B +OMIM:604906 skos:exactMatch UMLS:C1858050 Unspecified schizophrenia 9 +OMIM:277380 skos:exactMatch UMLS:C1848578 Unspecified methylmalonic aciduria and homocystinuria, cblf iia +OMIM:604909 skos:exactMatch HGNC_symbol:CNOT2 Unspecified CNOT2 +OMIM:604909 skos:exactMatch HGNC:7878 Unspecified CNOT2 +OMIM:604909 skos:exactMatch UMLS:C5231426 Unspecified CNOT2 +OMIM:604909 skos:exactMatch UMLS:C1417764 Unspecified CNOT2 +OMIM:604908 skos:exactMatch HGNC:9320 Unspecified PPP4R1 +OMIM:604908 skos:exactMatch HGNC_symbol:PPP4R1 Unspecified PPP4R1 +OMIM:604908 skos:exactMatch UMLS:C1418851 Unspecified PPP4R1 +OMIM:300151 skos:exactMatch HGNC_symbol:SLC25A6 Unspecified SLC25A6 +OMIM:300151 skos:exactMatch HGNC:10992 Unspecified SLC25A6 +OMIM:300151 skos:exactMatch UMLS:C1335835 Unspecified SLC25A6 +OMIM:300150 skos:exactMatch HGNC_symbol:SLC25A5 Unspecified SLC25A5 +OMIM:300150 skos:exactMatch HGNC:10991 Unspecified SLC25A5 +OMIM:300150 skos:exactMatch UMLS:C1335834 Unspecified SLC25A5 +OMIM:602311 skos:exactMatch HGNC:330 Unspecified AGRP +OMIM:602311 skos:exactMatch UMLS:C1412286 Unspecified AGRP +OMIM:602311 skos:exactMatch HGNC_symbol:AGRP Unspecified AGRP +OMIM:604974 skos:exactMatch HGNC_symbol:SOX21 Unspecified SOX21 +OMIM:604974 skos:exactMatch HGNC:11197 Unspecified SOX21 +OMIM:604974 skos:exactMatch UMLS:C1420324 Unspecified SOX21 +OMIM:300197 skos:exactMatch HGNC:868 Unspecified ATP6AP1 +OMIM:300197 skos:exactMatch HGNC_symbol:ATP6AP1 Unspecified ATP6AP1 +OMIM:300197 skos:exactMatch UMLS:C1412687 Unspecified ATP6AP1 +OMIM:300197 skos:exactMatch UMLS:C4310819 Unspecified ATP6AP1 +OMIM:300196 skos:exactMatch UMLS:C1420599 Unspecified TBL1X +OMIM:300196 skos:exactMatch HGNC:11585 Unspecified TBL1X +OMIM:300196 skos:exactMatch HGNC_symbol:TBL1X Unspecified TBL1X +OMIM:604973 skos:exactMatch UMLS:C1414561 Unspecified FCN3 +OMIM:604973 skos:exactMatch HGNC_symbol:FCN3 Unspecified FCN3 +OMIM:604973 skos:exactMatch HGNC:3625 Unspecified FCN3 +OMIM:604976 skos:exactMatch HGNC_symbol:PRKAG3 Unspecified PRKAG3 +OMIM:604976 skos:exactMatch HGNC:9387 Unspecified PRKAG3 +OMIM:604976 skos:exactMatch UMLS:C1418906 Unspecified PRKAG3 +OMIM:604976 skos:exactMatch UMLS:C5436642 Unspecified PRKAG3 +OMIM:602313 skos:exactMatch HGNC_symbol:OVOL1 Unspecified OVOL1 +OMIM:602313 skos:exactMatch HGNC:8525 Unspecified OVOL1 +OMIM:602313 skos:exactMatch UMLS:C1418205 Unspecified OVOL1 +OMIM:300199 skos:exactMatch HGNC:9910 Unspecified RBMX +OMIM:300199 skos:exactMatch HGNC_symbol:RBMX Unspecified RBMX +OMIM:300199 skos:exactMatch UMLS:C1846239 Unspecified RBMX +OMIM:300199 skos:exactMatch UMLS:C1419309 Unspecified RBMX +OMIM:300199 skos:exactMatch UMLS:C1419308 Unspecified RBMX +OMIM:300198 skos:exactMatch UMLS:C1415372 Unspecified GYG2 +OMIM:300198 skos:exactMatch HGNC_symbol:GYG2 Unspecified GYG2 +OMIM:300198 skos:exactMatch HGNC:4700 Unspecified GYG2 +OMIM:604975 skos:exactMatch HGNC_symbol:SOX5 Unspecified SOX5 +OMIM:604975 skos:exactMatch HGNC:11201 Unspecified SOX5 +OMIM:604975 skos:exactMatch UMLS:C1420328 Unspecified SOX5 +OMIM:602314 skos:exactMatch HGNC_symbol:LAD1 Unspecified LAD1 +OMIM:602314 skos:exactMatch UMLS:C1416770 Unspecified LAD1 +OMIM:602314 skos:exactMatch HGNC:6472 Unspecified LAD1 +OMIM:602315 skos:exactMatch UMLS:C1456386 Unspecified MAP2K3 +OMIM:602315 skos:exactMatch HGNC:6843 Unspecified MAP2K3 +OMIM:602315 skos:exactMatch HGNC_symbol:MAP2K3 Unspecified MAP2K3 +OMIM:604978 skos:exactMatch HGNC:13870 Unspecified NUDT21 +OMIM:604978 skos:exactMatch HGNC_symbol:NUDT21 Unspecified NUDT21 +OMIM:604978 skos:exactMatch UMLS:C1826493 Unspecified NUDT21 +OMIM:602316 skos:exactMatch HGNC:16753 Unspecified PRDX6 +OMIM:602316 skos:exactMatch UMLS:C1424518 Unspecified PRDX6 +OMIM:602316 skos:exactMatch HGNC_symbol:PRDX6 Unspecified PRDX6 +OMIM:604977 skos:exactMatch UMLS:C1420471 Unspecified STK19 +OMIM:604977 skos:exactMatch HGNC_symbol:STK19 Unspecified STK19 +OMIM:604977 skos:exactMatch HGNC:11398 Unspecified STK19 +OMIM:602317 skos:exactMatch UMLS:C1420447 Unspecified STAC1 +OMIM:602317 skos:exactMatch HGNC:11353 Unspecified STAC1 +OMIM:602317 skos:exactMatch HGNC_symbol:STAC Unspecified STAC1 +OMIM:133540 skos:exactMatch ORPHA:90321 Unspecified Cockayne syndrome B +OMIM:133540 skos:exactMatch ORPHA:90322 Unspecified Cockayne syndrome B +OMIM:133540 skos:exactMatch ORPHA:90324 Unspecified Cockayne syndrome B +OMIM:133540 skos:exactMatch ORPHA:191 Unspecified Cockayne syndrome B +OMIM:133540 skos:exactMatch UMLS:C0751038 Unspecified Cockayne syndrome B +OMIM:602318 skos:exactMatch UMLS:C1826316 Unspecified MTERF1 +OMIM:602318 skos:exactMatch HGNC:21463 Unspecified MTERF1 +OMIM:602318 skos:exactMatch HGNC_symbol:MTERF1 Unspecified MTERF1 +OMIM:604979 skos:exactMatch HGNC_symbol:CPSF6 Unspecified CPSF6 +OMIM:604979 skos:exactMatch HGNC:13871 Unspecified CPSF6 +OMIM:604979 skos:exactMatch UMLS:C1422246 Unspecified CPSF6 +OMIM:602319 skos:exactMatch HGNC_symbol:NELL1 Unspecified NELL1 +OMIM:602319 skos:exactMatch UMLS:C1417676 Unspecified NELL1 +OMIM:602319 skos:exactMatch HGNC:7750 Unspecified NELL1 +OMIM:312180 skos:exactMatch HGNC:12472 Unspecified UBE2A +OMIM:312180 skos:exactMatch UMLS:C1421271 Unspecified UBE2A +OMIM:312180 skos:exactMatch HGNC_symbol:UBE2A Unspecified UBE2A +OMIM:616960 skos:exactMatch HGNC:21918 Unspecified GIMAP6 +OMIM:616960 skos:exactMatch UMLS:C1539567 Unspecified GIMAP6 +OMIM:616960 skos:exactMatch HGNC_symbol:GIMAP6 Unspecified GIMAP6 +OMIM:616961 skos:exactMatch UMLS:C1539568 Unspecified GIMAP7 +OMIM:616961 skos:exactMatch HGNC_symbol:GIMAP7 Unspecified GIMAP7 +OMIM:616961 skos:exactMatch HGNC:22404 Unspecified GIMAP7 +OMIM:616962 skos:exactMatch HGNC:21792 Unspecified GIMAP8 +OMIM:616962 skos:exactMatch HGNC_symbol:GIMAP8 Unspecified GIMAP8 +OMIM:616962 skos:exactMatch UMLS:C1539569 Unspecified GIMAP8 +OMIM:616952 skos:exactMatch UMLS:C1824616 Unspecified MCUR1 +OMIM:616952 skos:exactMatch HGNC:21097 Unspecified MCUR1 +OMIM:616952 skos:exactMatch HGNC_symbol:MCUR1 Unspecified MCUR1 +OMIM:614300 skos:exactMatch UMLS:C3280381 Unspecified hypermethioninemia due to adenosine kinase deficiency +OMIM:616953 skos:exactMatch HGNC:21101 Unspecified CUTA +OMIM:616953 skos:exactMatch UMLS:C1824814 Unspecified CUTA +OMIM:616953 skos:exactMatch HGNC_symbol:CUTA Unspecified CUTA +OMIM:616954 skos:exactMatch UMLS:C4310778 Unspecified you-hoover-fong syndrome +OMIM:616955 skos:exactMatch HGNC:20248 Unspecified REM2 +OMIM:616955 skos:exactMatch HGNC_symbol:REM2 Unspecified REM2 +OMIM:616955 skos:exactMatch UMLS:C1426806 Unspecified REM2 +OMIM:616956 skos:exactMatch UMLS:C1426147 Unspecified TPPP2 +OMIM:616956 skos:exactMatch HGNC_symbol:TPPP2 Unspecified TPPP2 +OMIM:616956 skos:exactMatch HGNC:19293 Unspecified TPPP2 +OMIM:616957 skos:exactMatch HGNC_symbol:TPPP3 Unspecified TPPP3 +OMIM:616957 skos:exactMatch HGNC:24162 Unspecified TPPP3 +OMIM:616957 skos:exactMatch UMLS:C2240116 Unspecified TPPP3 +OMIM:616959 skos:exactMatch UMLS:C4310776 Unspecified retinitis pigmentosa and erythrocytic microcytosis +OMIM:604981 skos:exactMatch HGNC:12739 Unspecified WBP4 +OMIM:604981 skos:exactMatch HGNC_symbol:WBP4 Unspecified WBP4 +OMIM:604981 skos:exactMatch UMLS:C1421486 Unspecified WBP4 +OMIM:604980 skos:exactMatch HGNC:9804 Unspecified RACGAP1 +OMIM:604980 skos:exactMatch UMLS:C1419230 Unspecified RACGAP1 +OMIM:604980 skos:exactMatch HGNC_symbol:RACGAP1 Unspecified RACGAP1 +OMIM:604983 skos:exactMatch HGNC_symbol:POLG2 Unspecified POLG2 +OMIM:604983 skos:exactMatch UMLS:C1418732 Unspecified POLG2 +OMIM:604983 skos:exactMatch HGNC:9180 Unspecified POLG2 +OMIM:602320 skos:exactMatch HGNC:7751 Unspecified NELL2 +OMIM:602320 skos:exactMatch HGNC_symbol:NELL2 Unspecified NELL2 +OMIM:602320 skos:exactMatch UMLS:C1417677 Unspecified NELL2 +OMIM:602321 skos:exactMatch HGNC_symbol:GSTK1 Unspecified GSTK1 +OMIM:602321 skos:exactMatch HGNC:16906 Unspecified GSTK1 +OMIM:602321 skos:exactMatch UMLS:C1424627 Unspecified GSTK1 +OMIM:604982 skos:exactMatch UMLS:C2931875 Unspecified HPS1 +OMIM:604982 skos:exactMatch HGNC:5163 Unspecified HPS1 +OMIM:604982 skos:exactMatch HGNC_symbol:HPS1 Unspecified HPS1 +OMIM:604982 skos:exactMatch UMLS:C1415707 Unspecified HPS1 +OMIM:602300 skos:exactMatch UMLS:C1428362 Unspecified GAL3ST1 +OMIM:602300 skos:exactMatch HGNC_symbol:GAL3ST1 Unspecified GAL3ST1 +OMIM:602300 skos:exactMatch HGNC:24240 Unspecified GAL3ST1 +OMIM:604963 skos:exactMatch HGNC:8904 Unspecified PGLYRP1 +OMIM:604963 skos:exactMatch HGNC_symbol:PGLYRP1 Unspecified PGLYRP1 +OMIM:604963 skos:exactMatch UMLS:C1418515 Unspecified PGLYRP1 +OMIM:602301 skos:exactMatch UMLS:C1415020 Unspecified KAT2A +OMIM:602301 skos:exactMatch HGNC_symbol:KAT2A Unspecified KAT2A +OMIM:602301 skos:exactMatch HGNC:4201 Unspecified KAT2A +OMIM:604962 skos:exactMatch HGNC:30698 Unspecified TRAT1 +OMIM:604962 skos:exactMatch HGNC_symbol:TRAT1 Unspecified TRAT1 +OMIM:604962 skos:exactMatch UMLS:C1710327 Unspecified TRAT1 +OMIM:604965 skos:exactMatch UMLS:C1420481 Unspecified STK4 +OMIM:604965 skos:exactMatch HGNC_symbol:STK4 Unspecified STK4 +OMIM:604965 skos:exactMatch HGNC:11408 Unspecified STK4 +OMIM:602302 skos:exactMatch UMLS:C4015968 Unspecified HR +OMIM:602302 skos:exactMatch UMLS:C1415713 Unspecified HR +OMIM:602302 skos:exactMatch HGNC_symbol:HR Unspecified HR +OMIM:602302 skos:exactMatch UMLS:C2750815 Unspecified HR +OMIM:602302 skos:exactMatch UMLS:C1859592 Unspecified HR +OMIM:602302 skos:exactMatch UMLS:C1859877 Unspecified HR +OMIM:602302 skos:exactMatch HGNC:5172 Unspecified HR +OMIM:604964 skos:exactMatch HGNC:17710 Unspecified SIT1 +OMIM:604964 skos:exactMatch HGNC_symbol:SIT1 Unspecified SIT1 +OMIM:604964 skos:exactMatch UMLS:C1539774 Unspecified SIT1 +OMIM:602303 skos:exactMatch UMLS:C1366462 Unspecified KAT2B +OMIM:602303 skos:exactMatch HGNC:8638 Unspecified KAT2B +OMIM:602303 skos:exactMatch HGNC_symbol:KAT2B Unspecified KAT2B +OMIM:604967 skos:exactMatch HGNC_symbol:PCDHB@ Unspecified protocadherin-beta gene cluster +OMIM:604967 skos:exactMatch HGNC:8679 Unspecified protocadherin-beta gene cluster +OMIM:604967 skos:exactMatch UMLS:C1418328 Unspecified protocadherin-beta gene cluster +OMIM:602304 skos:exactMatch UMLS:C1417822 Unspecified NR1D2 +OMIM:602304 skos:exactMatch HGNC_symbol:NR1D2 Unspecified NR1D2 +OMIM:602304 skos:exactMatch HGNC:7963 Unspecified NR1D2 +OMIM:604966 skos:exactMatch HGNC_symbol:PCDHA@ Unspecified protocadherin-alpha gene cluster +OMIM:604966 skos:exactMatch HGNC:8662 Unspecified protocadherin-alpha gene cluster +OMIM:604966 skos:exactMatch UMLS:C1418311 Unspecified protocadherin-alpha gene cluster +OMIM:602306 skos:exactMatch UMLS:C1538835 Unspecified RGL2 +OMIM:602306 skos:exactMatch HGNC:9769 Unspecified RGL2 +OMIM:602306 skos:exactMatch HGNC_symbol:RGL2 Unspecified RGL2 +OMIM:604969 skos:exactMatch HGNC_symbol:SKAP1 Unspecified SKAP1 +OMIM:604969 skos:exactMatch HGNC:15605 Unspecified SKAP1 +OMIM:604969 skos:exactMatch UMLS:C1822730 Unspecified SKAP1 +OMIM:602307 skos:exactMatch HGNC:17004 Unspecified WWP1 +OMIM:602307 skos:exactMatch HGNC_symbol:WWP1 Unspecified WWP1 +OMIM:602307 skos:exactMatch UMLS:C1538115 Unspecified WWP1 +OMIM:604968 skos:exactMatch HGNC_symbol:PCDHG@ Unspecified protocadherin-gamma gene cluster +OMIM:604968 skos:exactMatch HGNC:8695 Unspecified protocadherin-gamma gene cluster +OMIM:604968 skos:exactMatch UMLS:C1418344 Unspecified protocadherin-gamma gene cluster +OMIM:133550 skos:exactMatch HGNC_symbol:SLC1A1 Unspecified SLC1A1 +OMIM:133550 skos:exactMatch UMLS:C1420119 Unspecified SLC1A1 +OMIM:133550 skos:exactMatch HGNC:10939 Unspecified SLC1A1 +OMIM:602308 skos:exactMatch HGNC:16804 Unspecified WWP2 +OMIM:602308 skos:exactMatch HGNC_symbol:WWP2 Unspecified WWP2 +OMIM:602308 skos:exactMatch UMLS:C1538116 Unspecified WWP2 +OMIM:602309 skos:exactMatch HGNC_symbol:TULP2 Unspecified TULP2 +OMIM:602309 skos:exactMatch HGNC:12424 Unspecified TULP2 +OMIM:602309 skos:exactMatch UMLS:C1421242 Unspecified TULP2 +OMIM:312190 skos:exactMatch UMLS:C1839410 Unspecified radial aplasia, X-linked +OMIM:616950 skos:exactMatch UMLS:C4310779 Unspecified spermatogenic failure 15 +OMIM:616951 skos:exactMatch HGNC:25094 Unspecified MTSS1L +OMIM:616951 skos:exactMatch UMLS:C2681848 Unspecified MTSS1L +OMIM:616951 skos:exactMatch HGNC_symbol:MTSS2 Unspecified MTSS1L +OMIM:616941 skos:exactMatch UMLS:C4310786 Unspecified agammaglobulinemia 8a, autosomal dominant +OMIM:616942 skos:exactMatch HGNC_symbol:PDIA5 Unspecified PDIA5 +OMIM:616942 skos:exactMatch HGNC:24811 Unspecified PDIA5 +OMIM:616942 skos:exactMatch UMLS:C1538610 Unspecified PDIA5 +OMIM:616943 skos:exactMatch UMLS:C4310785 Unspecified trichothiodystrophy 6, nonphotosensitive +OMIM:616944 skos:exactMatch UMLS:C4310784 Unspecified mental retardation, autosomal dominant 41 +OMIM:277350 skos:exactMatch UMLS:C2678266 Unspecified hypercarotenemia and vitamin a deficiency, autosomal recessive +OMIM:616945 skos:exactMatch HGNC_symbol:CLVS2 Unspecified CLVS2 +OMIM:616945 skos:exactMatch UMLS:C1427873 Unspecified CLVS2 +OMIM:616945 skos:exactMatch HGNC:23046 Unspecified CLVS2 +OMIM:616946 skos:exactMatch UMLS:C4310783 Unspecified premature ovarian failure 11 +OMIM:616947 skos:exactMatch UMLS:C4310782 Unspecified premature ovarian failure 12 +OMIM:616948 skos:exactMatch UMLS:C4310781 Unspecified spinocerebellar ataxia, autosomal recessive 22 +OMIM:616949 skos:exactMatch UMLS:C4310780 Unspecified spinocerebellar ataxia, autosomal recessive 23 +OMIM:604970 skos:exactMatch HGNC:11390 Unspecified AURKB +OMIM:604970 skos:exactMatch UMLS:C1420464 Unspecified AURKB +OMIM:604970 skos:exactMatch HGNC_symbol:AURKB Unspecified AURKB +OMIM:265380 skos:exactMatch UMLS:C0031190 Unspecified alveolar capillary dysplasia with misalignment of pulmonary veins +OMIM:265380 skos:exactMatch ORPHA:210122 Unspecified alveolar capillary dysplasia with misalignment of pulmonary veins +OMIM:604972 skos:exactMatch HGNC_symbol:ORC3 Unspecified ORC3 +OMIM:604972 skos:exactMatch UMLS:C1335085 Unspecified ORC3 +OMIM:604972 skos:exactMatch HGNC:8489 Unspecified ORC3 +OMIM:604971 skos:exactMatch HGNC:6967 Unspecified MDFI +OMIM:604971 skos:exactMatch UMLS:C1417085 Unspecified MDFI +OMIM:604971 skos:exactMatch HGNC_symbol:MDFI Unspecified MDFI +OMIM:602310 skos:exactMatch HGNC_symbol:RBMS1 Unspecified RBMS1 +OMIM:602310 skos:exactMatch HGNC:9907 Unspecified RBMS1 +OMIM:602310 skos:exactMatch UMLS:C1419305 Unspecified RBMS1 +OMIM:300175 skos:exactMatch UMLS:C1416975 Unspecified MAGEA4 +OMIM:300175 skos:exactMatch HGNC_symbol:MAGEA4 Unspecified MAGEA4 +OMIM:300175 skos:exactMatch HGNC:6802 Unspecified MAGEA4 +OMIM:604952 skos:exactMatch HGNC_symbol:KIR2DS1 Unspecified KIR2DS1 +OMIM:604952 skos:exactMatch UMLS:C1416647 Unspecified KIR2DS1 +OMIM:604952 skos:exactMatch HGNC:6333 Unspecified KIR2DS1 +OMIM:604951 skos:exactMatch HGNC:8903 Unspecified PGLS +OMIM:604951 skos:exactMatch HGNC_symbol:PGLS Unspecified PGLS +OMIM:604951 skos:exactMatch UMLS:C1418514 Unspecified PGLS +OMIM:300174 skos:exactMatch HGNC_symbol:MAGEA3 Unspecified MAGEA3 +OMIM:300174 skos:exactMatch UMLS:C0677907 Unspecified MAGEA3 +OMIM:300174 skos:exactMatch HGNC:6801 Unspecified MAGEA3 +OMIM:604954 skos:exactMatch HGNC_symbol:KIR2DS3 Unspecified KIR2DS3 +OMIM:604954 skos:exactMatch UMLS:C1416649 Unspecified KIR2DS3 +OMIM:604954 skos:exactMatch HGNC:6335 Unspecified KIR2DS3 +OMIM:300177 skos:exactMatch UMLS:C1416973 Unspecified MAGEA12 +OMIM:300177 skos:exactMatch HGNC_symbol:MAGEA12 Unspecified MAGEA12 +OMIM:300177 skos:exactMatch HGNC:6799 Unspecified MAGEA12 +OMIM:604953 skos:exactMatch HGNC_symbol:KIR2DS2 Unspecified KIR2DS2 +OMIM:604953 skos:exactMatch UMLS:C1416648 Unspecified KIR2DS2 +OMIM:604953 skos:exactMatch HGNC:6334 Unspecified KIR2DS2 +OMIM:300176 skos:exactMatch UMLS:C1416977 Unspecified MAGEA6 +OMIM:300176 skos:exactMatch HGNC_symbol:MAGEA6 Unspecified MAGEA6 +OMIM:300176 skos:exactMatch HGNC:6804 Unspecified MAGEA6 +OMIM:300179 skos:exactMatch UMLS:C1846257 Unspecified x inactivation, familial skewed, 2 +OMIM:604956 skos:exactMatch HGNC_symbol:KIR2DS5 Unspecified KIR2DS5 +OMIM:604956 skos:exactMatch UMLS:C1416651 Unspecified KIR2DS5 +OMIM:604956 skos:exactMatch HGNC:6337 Unspecified KIR2DS5 +OMIM:300178 skos:exactMatch HGNC:447 Unspecified ZBED1 +OMIM:300178 skos:exactMatch UMLS:C1412371 Unspecified ZBED1 +OMIM:300178 skos:exactMatch HGNC_symbol:ZBED1 Unspecified ZBED1 +OMIM:604955 skos:exactMatch HGNC_symbol:KIR2DS4 Unspecified KIR2DS4 +OMIM:604955 skos:exactMatch UMLS:C1416650 Unspecified KIR2DS4 +OMIM:604955 skos:exactMatch HGNC:6336 Unspecified KIR2DS4 +OMIM:604958 skos:exactMatch UMLS:C1538907 Unspecified ACTL6A +OMIM:604958 skos:exactMatch HGNC_symbol:ACTL6A Unspecified ACTL6A +OMIM:604958 skos:exactMatch HGNC:24124 Unspecified ACTL6A +OMIM:604959 skos:exactMatch UMLS:C1321914 Unspecified PMAIP1 +OMIM:604959 skos:exactMatch HGNC_symbol:PMAIP1 Unspecified PMAIP1 +OMIM:604959 skos:exactMatch HGNC:9108 Unspecified PMAIP1 +OMIM:170500 skos:exactMatch UMLS:C0238357 Unspecified hyperkalemic periodic paralysis +OMIM:170500 skos:exactMatch UMLS:C1868433 Unspecified hyperkalemic periodic paralysis +OMIM:616940 skos:exactMatch HGNC:20217 Unspecified EXD2 +OMIM:616940 skos:exactMatch HGNC_symbol:EXD2 Unspecified EXD2 +OMIM:616940 skos:exactMatch UMLS:C1825073 Unspecified EXD2 +OMIM:616930 skos:exactMatch UMLS:C1826317 Unspecified MTERF3 +OMIM:616930 skos:exactMatch HGNC:24258 Unspecified MTERF3 +OMIM:616930 skos:exactMatch HGNC_symbol:MTERF3 Unspecified MTERF3 +OMIM:616931 skos:exactMatch UMLS:C1426101 Unspecified FUT10 +OMIM:616931 skos:exactMatch HGNC_symbol:FUT10 Unspecified FUT10 +OMIM:616931 skos:exactMatch HGNC:19234 Unspecified FUT10 +OMIM:616932 skos:exactMatch HGNC:19233 Unspecified FUT11 +OMIM:616932 skos:exactMatch UMLS:C1426100 Unspecified FUT11 +OMIM:616932 skos:exactMatch HGNC_symbol:FUT11 Unspecified FUT11 +OMIM:616933 skos:exactMatch HGNC_symbol:FYTTD1 Unspecified FYTTD1 +OMIM:616933 skos:exactMatch HGNC:25407 Unspecified FYTTD1 +OMIM:616933 skos:exactMatch UMLS:C1539542 Unspecified FYTTD1 +OMIM:616934 skos:exactMatch UMLS:C2828929 Unspecified MEIOC +OMIM:616934 skos:exactMatch HGNC_symbol:MEIOC Unspecified MEIOC +OMIM:616934 skos:exactMatch HGNC:26670 Unspecified MEIOC +OMIM:616935 skos:exactMatch HGNC_symbol:FAF2 Unspecified FAF2 +OMIM:616935 skos:exactMatch HGNC:24666 Unspecified FAF2 +OMIM:616935 skos:exactMatch UMLS:C1823587 Unspecified FAF2 +OMIM:616936 skos:exactMatch HGNC:25701 Unspecified CHD9 +OMIM:616936 skos:exactMatch UMLS:C1538451 Unspecified CHD9 +OMIM:616936 skos:exactMatch HGNC_symbol:CHD9 Unspecified CHD9 +OMIM:616937 skos:exactMatch UMLS:C4310789 Unspecified thrombocytopenia 6 +OMIM:616938 skos:exactMatch UMLS:C4310788 Unspecified coffin-siris syndrome 5 +OMIM:616939 skos:exactMatch UMLS:C4310787 Unspecified chorea, childhood-onset, with psychomotor retardation +OMIM:300180 skos:exactMatch HGNC:719 Unspecified ARSE +OMIM:300180 skos:exactMatch UMLS:C1412558 Unspecified ARSE +OMIM:300180 skos:exactMatch HGNC_symbol:ARSL Unspecified ARSE +OMIM:300182 skos:exactMatch HGNC:2370 Unspecified MED14 +OMIM:300182 skos:exactMatch HGNC_symbol:MED14 Unspecified MED14 +OMIM:300182 skos:exactMatch UMLS:C1332781 Unspecified MED14 +OMIM:300181 skos:exactMatch HGNC_symbol:TSIX Unspecified TSIX +OMIM:300181 skos:exactMatch HGNC:12377 Unspecified TSIX +OMIM:300181 skos:exactMatch UMLS:C1421204 Unspecified TSIX +OMIM:604961 skos:exactMatch HGNC_symbol:PDE11A Unspecified PDE11A +OMIM:604961 skos:exactMatch HGNC:8773 Unspecified PDE11A +OMIM:604961 skos:exactMatch UMLS:C1418413 Unspecified PDE11A +OMIM:300184 skos:exactMatch UMLS:C1970936 Unspecified hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses +OMIM:604960 skos:exactMatch HGNC:8571 Unspecified PACSIN2 +OMIM:604960 skos:exactMatch UMLS:C1418242 Unspecified PACSIN2 +OMIM:604960 skos:exactMatch HGNC_symbol:PACSIN2 Unspecified PACSIN2 +OMIM:604941 skos:exactMatch HGNC_symbol:PPP2R2A Unspecified PPP2R2A +OMIM:604941 skos:exactMatch UMLS:C1418838 Unspecified PPP2R2A +OMIM:604941 skos:exactMatch HGNC:9304 Unspecified PPP2R2A +OMIM:300186 skos:exactMatch HGNC_symbol:EIF1AX Unspecified EIF1AX +OMIM:300186 skos:exactMatch UMLS:C1539339 Unspecified EIF1AX +OMIM:300186 skos:exactMatch HGNC:3250 Unspecified EIF1AX +OMIM:300185 skos:exactMatch HGNC:374 Unspecified AKAP4 +OMIM:300185 skos:exactMatch UMLS:C1412316 Unspecified AKAP4 +OMIM:300185 skos:exactMatch HGNC_symbol:AKAP4 Unspecified AKAP4 +OMIM:604943 skos:exactMatch UMLS:C3151230 Unspecified SLC26A5 +OMIM:604943 skos:exactMatch HGNC_symbol:SLC26A5 Unspecified SLC26A5 +OMIM:604943 skos:exactMatch UMLS:C4015968 Unspecified SLC26A5 +OMIM:604943 skos:exactMatch HGNC:9359 Unspecified SLC26A5 +OMIM:604943 skos:exactMatch UMLS:C1822756 Unspecified SLC26A5 +OMIM:300188 skos:exactMatch UMLS:C1537677 Unspecified MED12 +OMIM:300188 skos:exactMatch HGNC:11957 Unspecified MED12 +OMIM:300188 skos:exactMatch UMLS:C3698541 Unspecified MED12 +OMIM:300188 skos:exactMatch HGNC_symbol:MED12 Unspecified MED12 +OMIM:300188 skos:exactMatch UMLS:C0220769 Unspecified MED12 +OMIM:300188 skos:exactMatch UMLS:C0796022 Unspecified MED12 +OMIM:604942 skos:exactMatch UMLS:C1423840 Unspecified SNPH +OMIM:604942 skos:exactMatch HGNC:15931 Unspecified SNPH +OMIM:604942 skos:exactMatch HGNC_symbol:SNPH Unspecified SNPH +OMIM:300187 skos:exactMatch UMLS:C1420416 Unspecified SRPX +OMIM:300187 skos:exactMatch HGNC_symbol:SRPX Unspecified SRPX +OMIM:300187 skos:exactMatch HGNC:11309 Unspecified SRPX +OMIM:604945 skos:exactMatch HGNC_symbol:KIR2DL4 Unspecified KIR2DL4 +OMIM:604945 skos:exactMatch UMLS:C1416646 Unspecified KIR2DL4 +OMIM:604945 skos:exactMatch HGNC:6332 Unspecified KIR2DL4 +OMIM:300189 skos:exactMatch UMLS:C1414065 Unspecified DLG3 +OMIM:300189 skos:exactMatch HGNC:2902 Unspecified DLG3 +OMIM:300189 skos:exactMatch HGNC_symbol:DLG3 Unspecified DLG3 +OMIM:604944 skos:exactMatch HGNC_symbol:PPP2R3A Unspecified PPP2R3A +OMIM:604944 skos:exactMatch UMLS:C1418841 Unspecified PPP2R3A +OMIM:604944 skos:exactMatch HGNC:9307 Unspecified PPP2R3A +OMIM:604947 skos:exactMatch HGNC_symbol:KIR3DL2 Unspecified KIR3DL2 +OMIM:604947 skos:exactMatch UMLS:C1416653 Unspecified KIR3DL2 +OMIM:604947 skos:exactMatch HGNC:6339 Unspecified KIR3DL2 +OMIM:604946 skos:exactMatch HGNC_symbol:KIR3DL1 Unspecified KIR3DL1 +OMIM:604946 skos:exactMatch UMLS:C4016912 Unspecified KIR3DL1 +OMIM:604946 skos:exactMatch UMLS:C1416652 Unspecified KIR3DL1 +OMIM:604946 skos:exactMatch UMLS:C1416654 Unspecified KIR3DL1 +OMIM:604946 skos:exactMatch HGNC:6338 Unspecified KIR3DL1 +OMIM:604949 skos:exactMatch HGNC_symbol:GADD45G Unspecified GADD45G +OMIM:604949 skos:exactMatch HGNC:4097 Unspecified GADD45G +OMIM:604949 skos:exactMatch UMLS:C1414929 Unspecified GADD45G +OMIM:604948 skos:exactMatch HGNC:4096 Unspecified GADD45B +OMIM:604948 skos:exactMatch HGNC_symbol:GADD45B Unspecified GADD45B +OMIM:604948 skos:exactMatch UMLS:C1414928 Unspecified GADD45B +OMIM:312170 skos:exactMatch UMLS:C0034345 Unspecified pyruvate dehydrogenase e1-alpha deficiency +OMIM:312170 skos:exactMatch UMLS:C1839413 Unspecified pyruvate dehydrogenase e1-alpha deficiency +OMIM:312170 skos:exactMatch ORPHA:765 Unspecified pyruvate dehydrogenase e1-alpha deficiency +OMIM:312170 skos:exactMatch UMLS:C0751597 Unspecified pyruvate dehydrogenase e1-alpha deficiency +OMIM:312170 skos:exactMatch ORPHA:79243 Unspecified pyruvate dehydrogenase e1-alpha deficiency +OMIM:312173 skos:exactMatch UMLS:C1335635 Unspecified RPL10 +OMIM:312173 skos:exactMatch HGNC_symbol:RPL10 Unspecified RPL10 +OMIM:312173 skos:exactMatch HGNC:10298 Unspecified RPL10 +OMIM:616920 skos:exactMatch UMLS:C4310793 Unspecified heart and brain malformation syndrome +OMIM:616921 skos:exactMatch UMLS:C4310792 Unspecified dyskinesia, limb and orofacial, infantile-onset +OMIM:616922 skos:exactMatch UMLS:C4310791 Unspecified striatal degeneration, autosomal dominant 2 +OMIM:616923 skos:exactMatch HGNC_symbol:RNF207 Unspecified RNF207 +OMIM:616923 skos:exactMatch UMLS:C1826842 Unspecified RNF207 +OMIM:616923 skos:exactMatch HGNC:32947 Unspecified RNF207 +OMIM:616924 skos:exactMatch UMLS:C4310790 Unspecified charcot-marie-tooth disease, axonal, iia 2cc +OMIM:169500 skos:exactMatch UMLS:C1868512 Unspecified leukodystrophy, demyelinating, adult-onset, autosomal dominant +OMIM:616925 skos:exactMatch UMLS:C3470077 Unspecified DHRS4AS1 +OMIM:616925 skos:exactMatch HGNC:23175 Unspecified DHRS4AS1 +OMIM:616925 skos:exactMatch HGNC_symbol:DHRS4-AS1 Unspecified DHRS4AS1 +OMIM:616926 skos:exactMatch HGNC:4028 Unspecified FXYD4 +OMIM:616926 skos:exactMatch UMLS:C1414877 Unspecified FXYD4 +OMIM:616926 skos:exactMatch HGNC_symbol:FXYD4 Unspecified FXYD4 +OMIM:616927 skos:exactMatch UMLS:C2239392 Unspecified EXOC3L2 +OMIM:616927 skos:exactMatch HGNC_symbol:EXOC3L2 Unspecified EXOC3L2 +OMIM:616927 skos:exactMatch HGNC:30162 Unspecified EXOC3L2 +OMIM:616928 skos:exactMatch HGNC_symbol:TMEM45A Unspecified TMEM45A +OMIM:616928 skos:exactMatch HGNC:25480 Unspecified TMEM45A +OMIM:616928 skos:exactMatch UMLS:C1540018 Unspecified TMEM45A +OMIM:108600 skos:exactMatch UMLS:C1970107 Unspecified spastic ataxia 1, autosomal dominant +OMIM:616929 skos:exactMatch HGNC:30779 Unspecified MTERF2 +OMIM:616929 skos:exactMatch HGNC_symbol:MTERF2 Unspecified MTERF2 +OMIM:616929 skos:exactMatch UMLS:C1826319 Unspecified MTERF2 +OMIM:300191 skos:exactMatch HGNC_symbol:TSPAN6 Unspecified TSPAN6 +OMIM:300191 skos:exactMatch HGNC:11858 Unspecified TSPAN6 +OMIM:300191 skos:exactMatch UMLS:C1540086 Unspecified TSPAN6 +OMIM:300190 skos:exactMatch UMLS:C1420020 Unspecified SH3BGRL +OMIM:300190 skos:exactMatch HGNC:10823 Unspecified SH3BGRL +OMIM:300190 skos:exactMatch HGNC_symbol:SH3BGRL Unspecified SH3BGRL +OMIM:300193 skos:exactMatch HGNC:5004 Unspecified HMGB3 +OMIM:300193 skos:exactMatch UMLS:C1333910 Unspecified HMGB3 +OMIM:300193 skos:exactMatch HGNC_symbol:HMGB3 Unspecified HMGB3 +OMIM:300192 skos:exactMatch UMLS:C1846243 Unspecified SSX2 +OMIM:300192 skos:exactMatch HGNC:11336 Unspecified SSX2 +OMIM:300192 skos:exactMatch HGNC_symbol:SSX2 Unspecified SSX2 +OMIM:300192 skos:exactMatch UMLS:C1420435 Unspecified SSX2 +OMIM:300195 skos:exactMatch HGNC:467 Unspecified AMMECR1 +OMIM:300195 skos:exactMatch UMLS:C1412386 Unspecified AMMECR1 +OMIM:300195 skos:exactMatch HGNC_symbol:AMMECR1 Unspecified AMMECR1 +OMIM:604950 skos:exactMatch HGNC_symbol:PHTF1 Unspecified PHTF1 +OMIM:604950 skos:exactMatch HGNC:8939 Unspecified PHTF1 +OMIM:604950 skos:exactMatch UMLS:C1418542 Unspecified PHTF1 +OMIM:300194 skos:exactMatch UMLS:C1846242 Unspecified amme complex +OMIM:300194 skos:exactMatch ORPHA:86818 Unspecified amme complex +OMIM:602355 skos:exactMatch HGNC:12036 Unspecified TRAF6 +OMIM:602355 skos:exactMatch HGNC_symbol:TRAF6 Unspecified TRAF6 +OMIM:602355 skos:exactMatch UMLS:C1336666 Unspecified TRAF6 +OMIM:602356 skos:exactMatch HGNC:12035 Unspecified TRAF5 +OMIM:602356 skos:exactMatch HGNC_symbol:TRAF5 Unspecified TRAF5 +OMIM:602356 skos:exactMatch UMLS:C1420889 Unspecified TRAF5 +OMIM:602357 skos:exactMatch UMLS:C1823857 Unspecified WIPF1 +OMIM:602357 skos:exactMatch HGNC:12736 Unspecified WIPF1 +OMIM:602357 skos:exactMatch UMLS:C3281001 Unspecified WIPF1 +OMIM:602357 skos:exactMatch HGNC_symbol:WIPF1 Unspecified WIPF1 +OMIM:602358 skos:exactMatch HGNC_symbol:HCRT Unspecified HCRT +OMIM:602358 skos:exactMatch HGNC:4847 Unspecified HCRT +OMIM:602358 skos:exactMatch UMLS:C1415500 Unspecified HCRT +OMIM:602359 skos:exactMatch UMLS:C1414874 Unspecified FXYD1 +OMIM:602359 skos:exactMatch HGNC_symbol:FXYD1 Unspecified FXYD1 +OMIM:602359 skos:exactMatch HGNC:4025 Unspecified FXYD1 +OMIM:614338 skos:exactMatch UMLS:C3280530 Unspecified pancreatic lipase deficiency +OMIM:614338 skos:exactMatch UMLS:C3280528 Unspecified pancreatic lipase deficiency +OMIM:614338 skos:exactMatch UMLS:C3280529 Unspecified pancreatic lipase deficiency +OMIM:614338 skos:exactMatch UMLS:C3280527 Unspecified pancreatic lipase deficiency +OMIM:614338 skos:exactMatch UMLS:C0268241 Unspecified pancreatic lipase deficiency +OMIM:614337 skos:exactMatch UMLS:C1838333 Unspecified colorectal cancer, hereditary nonpolyposis, iia 4 +OMIM:614336 skos:exactMatch UMLS:C3148559 Unspecified PAM16 +OMIM:614336 skos:exactMatch HGNC_symbol:PAM16 Unspecified PAM16 +OMIM:614336 skos:exactMatch HGNC:29679 Unspecified PAM16 +OMIM:614335 skos:exactMatch UMLS:C3280526 Unspecified arthrogryposis, distal, iia 1b +OMIM:614334 skos:exactMatch HGNC_symbol:DNAJC13 Unspecified DNAJC13 +OMIM:614334 skos:exactMatch HGNC:30343 Unspecified DNAJC13 +OMIM:614334 skos:exactMatch UMLS:C1428964 Unspecified DNAJC13 +OMIM:616996 skos:exactMatch UMLS:C1425964 Unspecified TRIM56 +OMIM:616996 skos:exactMatch HGNC:19028 Unspecified TRIM56 +OMIM:616996 skos:exactMatch HGNC_symbol:TRIM56 Unspecified TRIM56 +OMIM:614344 skos:exactMatch UMLS:C3280542 Unspecified intellectual developmental disorder, autosomal recessive 23 +OMIM:616997 skos:exactMatch UMLS:C1539359 Unspecified ENPP7 +OMIM:616997 skos:exactMatch HGNC:23764 Unspecified ENPP7 +OMIM:616997 skos:exactMatch HGNC_symbol:ENPP7 Unspecified ENPP7 +OMIM:614343 skos:exactMatch UMLS:C3280541 Unspecified intellectual developmental disorder, autosomal recessive 19 +OMIM:614342 skos:exactMatch UMLS:C3280540 Unspecified intellectual developmental disorder, autosomal recessive 30 +OMIM:616998 skos:exactMatch HGNC_symbol:LLPH Unspecified LLPH +OMIM:616998 skos:exactMatch UMLS:C1824352 Unspecified LLPH +OMIM:616998 skos:exactMatch HGNC:28229 Unspecified LLPH +OMIM:616999 skos:exactMatch UMLS:C3146324 Unspecified RBFOX3 +OMIM:616999 skos:exactMatch HGNC_symbol:RBFOX3 Unspecified RBFOX3 +OMIM:616999 skos:exactMatch HGNC:27097 Unspecified RBFOX3 +OMIM:614341 skos:exactMatch UMLS:C3280539 Unspecified intellectual developmental disorder, autosomal recessive 33 +OMIM:614340 skos:exactMatch UMLS:C3280538 Unspecified intellectual developmental disorder, autosomal recessive 27 +OMIM:277320 skos:exactMatch UMLS:C1848586 Unspecified visceral myopathy, familial, with external ophthalmoplegia +OMIM:602360 skos:exactMatch HGNC_symbol:GATM Unspecified GATM +OMIM:602360 skos:exactMatch UMLS:C2675179 Unspecified GATM +OMIM:602360 skos:exactMatch HGNC:4175 Unspecified GATM +OMIM:602360 skos:exactMatch UMLS:C1414997 Unspecified GATM +OMIM:602360 skos:exactMatch UMLS:C4551503 Unspecified GATM +OMIM:602361 skos:exactMatch UMLS:C1865639 Unspecified gracile bone dysplasia +OMIM:602362 skos:exactMatch HGNC_symbol:RANGAP1 Unspecified RANGAP1 +OMIM:602362 skos:exactMatch HGNC:9854 Unspecified RANGAP1 +OMIM:602362 skos:exactMatch UMLS:C1335589 Unspecified RANGAP1 +OMIM:602364 skos:exactMatch HGNC_symbol:CTSW Unspecified CTSW +OMIM:602364 skos:exactMatch HGNC:2546 Unspecified CTSW +OMIM:602364 skos:exactMatch UMLS:C1413822 Unspecified CTSW +OMIM:602365 skos:exactMatch HGNC_symbol:CTSC Unspecified CTSC +OMIM:602365 skos:exactMatch HGNC:2528 Unspecified CTSC +OMIM:602365 skos:exactMatch UMLS:C1413811 Unspecified CTSC +OMIM:602344 skos:exactMatch HGNC:8579 Unspecified PAFAH2 +OMIM:602344 skos:exactMatch HGNC_symbol:PAFAH2 Unspecified PAFAH2 +OMIM:602344 skos:exactMatch UMLS:C1418250 Unspecified PAFAH2 +OMIM:602345 skos:exactMatch HGNC:12335 Unspecified TRPC3 +OMIM:602345 skos:exactMatch UMLS:C1421170 Unspecified TRPC3 +OMIM:602345 skos:exactMatch HGNC_symbol:TRPC3 Unspecified TRPC3 +OMIM:602346 skos:exactMatch HGNC:8011 Unspecified CNTNAP1 +OMIM:602346 skos:exactMatch HGNC_symbol:CNTNAP1 Unspecified CNTNAP1 +OMIM:602346 skos:exactMatch UMLS:C1332770 Unspecified CNTNAP1 +OMIM:602347 skos:exactMatch UMLS:C1865643 Unspecified cholestasis, progressive familial intrahepatic, 3 +OMIM:602348 skos:exactMatch HGNC:11136 Unspecified SNAPC3 +OMIM:602348 skos:exactMatch HGNC_symbol:SNAPC3 Unspecified SNAPC3 +OMIM:602348 skos:exactMatch UMLS:C1420274 Unspecified SNAPC3 +OMIM:182520 skos:exactMatch HGNC_symbol:SRI Unspecified SRI +OMIM:182520 skos:exactMatch HGNC:11292 Unspecified SRI +OMIM:182520 skos:exactMatch UMLS:C1420401 Unspecified SRI +OMIM:602349 skos:exactMatch HGNC:8030 Unspecified NTN3 +OMIM:602349 skos:exactMatch HGNC_symbol:NTN3 Unspecified NTN3 +OMIM:602349 skos:exactMatch UMLS:C1417868 Unspecified NTN3 +OMIM:614329 skos:exactMatch UMLS:C3280523 Unspecified intellectual developmental disorder, autosomal recessive 31 +OMIM:614328 skos:exactMatch UMLS:C3280501 Unspecified inflammatory skin and bowel disease, neonatal, 1 +OMIM:616990 skos:exactMatch HGNC_symbol:CLUL1 Unspecified CLUL1 +OMIM:616990 skos:exactMatch HGNC:2096 Unspecified CLUL1 +OMIM:616990 skos:exactMatch UMLS:C1413515 Unspecified CLUL1 +OMIM:614327 skos:exactMatch UMLS:C3280492 Unspecified tumor predisposition syndrome +OMIM:616991 skos:exactMatch HGNC:21661 Unspecified MUC21 +OMIM:616991 skos:exactMatch UMLS:C1427682 Unspecified MUC21 +OMIM:616991 skos:exactMatch HGNC_symbol:MUC21 Unspecified MUC21 +OMIM:614326 skos:exactMatch UMLS:C3280489 Unspecified feingold syndrome 2 +OMIM:616992 skos:exactMatch HGNC_symbol:C8orf17 Unspecified C8ORF17 +OMIM:616992 skos:exactMatch HGNC:17737 Unspecified C8ORF17 +OMIM:616992 skos:exactMatch UMLS:C1425057 Unspecified C8ORF17 +OMIM:614325 skos:exactMatch UMLS:C3280479 Unspecified pitt-hopkins-like syndrome 2 +OMIM:616993 skos:exactMatch HGNC_symbol:TMEM243 Unspecified TMEM243 +OMIM:616993 skos:exactMatch HGNC:21707 Unspecified TMEM243 +OMIM:616993 skos:exactMatch UMLS:C1427708 Unspecified TMEM243 +OMIM:614324 skos:exactMatch UMLS:C3280471 Unspecified ovarian dysgenesis 3 +OMIM:614323 skos:exactMatch UMLS:C1304501 Unspecified nevoid hypermelanosis, linear and whorled +OMIM:614323 skos:exactMatch ORPHA:79150 Unspecified nevoid hypermelanosis, linear and whorled +OMIM:614323 skos:exactMatch UMLS:C0263579 Unspecified nevoid hypermelanosis, linear and whorled +OMIM:616995 skos:exactMatch UMLS:C0008288 Unspecified CIPC +OMIM:616995 skos:exactMatch HGNC:20365 Unspecified CIPC +OMIM:616995 skos:exactMatch HGNC_symbol:CIPC Unspecified CIPC +OMIM:616985 skos:exactMatch HGNC:37155 Unspecified MTRNR2L1 +OMIM:616985 skos:exactMatch UMLS:C3148432 Unspecified MTRNR2L1 +OMIM:616985 skos:exactMatch HGNC_symbol:MTRNR2L1 Unspecified MTRNR2L1 +OMIM:614333 skos:exactMatch UMLS:C3280525 Unspecified intellectual developmental disorder, autosomal recessive 29 +OMIM:616986 skos:exactMatch UMLS:C4310834 Unspecified None +OMIM:614332 skos:exactMatch UMLS:C3808494 Unspecified chromosome 2p16.3 deletion syndrome +OMIM:614332 skos:exactMatch UMLS:C3280524 Unspecified chromosome 2p16.3 deletion syndrome +OMIM:614331 skos:exactMatch UMLS:C1860896 Unspecified colorectal cancer, hereditary nonpolyposis, iia 6 +OMIM:616987 skos:exactMatch HGNC_symbol:C6orf120 Unspecified C6ORF120 +OMIM:616987 skos:exactMatch HGNC:21247 Unspecified C6ORF120 +OMIM:616987 skos:exactMatch UMLS:C1427451 Unspecified C6ORF120 +OMIM:616988 skos:exactMatch UMLS:C1824750 Unspecified CLLU1 +OMIM:616988 skos:exactMatch HGNC:29841 Unspecified CLLU1 +OMIM:616988 skos:exactMatch HGNC_symbol:CLLU1 Unspecified CLLU1 +OMIM:614330 skos:exactMatch HGNC:24181 Unspecified C1QL2 +OMIM:614330 skos:exactMatch UMLS:C1538976 Unspecified C1QL2 +OMIM:614330 skos:exactMatch HGNC_symbol:C1QL2 Unspecified C1QL2 +OMIM:616989 skos:exactMatch UMLS:C1824751 Unspecified CLLU1OS +OMIM:616989 skos:exactMatch HGNC:24070 Unspecified CLLU1OS +OMIM:616989 skos:exactMatch HGNC_symbol:CLLU1-AS1 Unspecified CLLU1OS +OMIM:194500 skos:exactMatch HGNC_symbol:ZNF2 Unspecified ZNF2 +OMIM:194500 skos:exactMatch HGNC:12991 Unspecified ZNF2 +OMIM:194500 skos:exactMatch UMLS:C1421688 Unspecified ZNF2 +OMIM:602350 skos:exactMatch UMLS:C1417847 Unspecified NRGN +OMIM:602350 skos:exactMatch HGNC:8000 Unspecified NRGN +OMIM:602350 skos:exactMatch HGNC_symbol:NRGN Unspecified NRGN +OMIM:602351 skos:exactMatch UMLS:C1332767 Unspecified CMKLR1 +OMIM:602351 skos:exactMatch HGNC_symbol:CMKLR1 Unspecified CMKLR1 +OMIM:602351 skos:exactMatch HGNC:2121 Unspecified CMKLR1 +OMIM:602352 skos:exactMatch HGNC_symbol:GNRH2 Unspecified GNRH2 +OMIM:602352 skos:exactMatch HGNC:4420 Unspecified GNRH2 +OMIM:602352 skos:exactMatch UMLS:C1415170 Unspecified GNRH2 +OMIM:602353 skos:exactMatch HGNC_symbol:TGFB1I1 Unspecified TGFB1I1 +OMIM:602353 skos:exactMatch HGNC:11767 Unspecified TGFB1I1 +OMIM:602353 skos:exactMatch UMLS:C1420710 Unspecified TGFB1I1 +OMIM:602354 skos:exactMatch HGNC_symbol:LAT Unspecified LAT +OMIM:602354 skos:exactMatch UMLS:C1425844 Unspecified LAT +OMIM:602354 skos:exactMatch HGNC:18874 Unspecified LAT +OMIM:602333 skos:exactMatch HGNC_symbol:EMP1 Unspecified EMP1 +OMIM:602333 skos:exactMatch HGNC:3333 Unspecified EMP1 +OMIM:602333 skos:exactMatch UMLS:C0812384 Unspecified EMP1 +OMIM:604996 skos:exactMatch UMLS:C1414876 Unspecified FXYD3 +OMIM:604996 skos:exactMatch HGNC_symbol:FXYD3 Unspecified FXYD3 +OMIM:604996 skos:exactMatch HGNC:4027 Unspecified FXYD3 +OMIM:602334 skos:exactMatch HGNC_symbol:EMP2 Unspecified EMP2 +OMIM:602334 skos:exactMatch UMLS:C1414388 Unspecified EMP2 +OMIM:602334 skos:exactMatch HGNC:3334 Unspecified EMP2 +OMIM:157570 skos:exactMatch UMLS:C1834871 Unspecified minisatellite 33.15 +OMIM:604995 skos:exactMatch HGNC_symbol:SLC22A7 Unspecified SLC22A7 +OMIM:604995 skos:exactMatch UMLS:C1420142 Unspecified SLC22A7 +OMIM:604995 skos:exactMatch HGNC:10971 Unspecified SLC22A7 +OMIM:604998 skos:exactMatch HGNC:1459 Unspecified CAMK1 +OMIM:604998 skos:exactMatch UMLS:C1413098 Unspecified CAMK1 +OMIM:604998 skos:exactMatch HGNC_symbol:CAMK1 Unspecified CAMK1 +OMIM:602335 skos:exactMatch HGNC_symbol:EMP3 Unspecified EMP3 +OMIM:602335 skos:exactMatch UMLS:C1414389 Unspecified EMP3 +OMIM:602335 skos:exactMatch HGNC:3335 Unspecified EMP3 +OMIM:604997 skos:exactMatch HGNC:2991 Unspecified DOK2 +OMIM:604997 skos:exactMatch HGNC_symbol:DOK2 Unspecified DOK2 +OMIM:604997 skos:exactMatch UMLS:C1414130 Unspecified DOK2 +OMIM:602336 skos:exactMatch UMLS:C1335633 Unspecified ROR1 +OMIM:602336 skos:exactMatch HGNC_symbol:ROR1 Unspecified ROR1 +OMIM:602336 skos:exactMatch HGNC:10256 Unspecified ROR1 +OMIM:602337 skos:exactMatch UMLS:C1366544 Unspecified ROR2 +OMIM:602337 skos:exactMatch HGNC_symbol:ROR2 Unspecified ROR2 +OMIM:602337 skos:exactMatch HGNC:10257 Unspecified ROR2 +OMIM:602338 skos:exactMatch HGNC_symbol:PRPF4B Unspecified PRPF4B +OMIM:602338 skos:exactMatch UMLS:C1424919 Unspecified PRPF4B +OMIM:602338 skos:exactMatch HGNC:17346 Unspecified PRPF4B +OMIM:604999 skos:exactMatch HGNC:15474 Unspecified SHANK1 +OMIM:604999 skos:exactMatch UMLS:C1423514 Unspecified SHANK1 +OMIM:604999 skos:exactMatch HGNC_symbol:SHANK1 Unspecified SHANK1 +OMIM:602339 skos:exactMatch HGNC:10921 Unspecified SLC15A2 +OMIM:602339 skos:exactMatch HGNC_symbol:SLC15A2 Unspecified SLC15A2 +OMIM:602339 skos:exactMatch UMLS:C1420101 Unspecified SLC15A2 +OMIM:614319 skos:exactMatch UMLS:C3280441 Unspecified vesicoureteral reflux 6 +OMIM:614318 skos:exactMatch UMLS:C3280440 Unspecified vesicoureteral reflux 5 +OMIM:614317 skos:exactMatch UMLS:C3280439 Unspecified vesicoureteral reflux 4 +OMIM:614316 skos:exactMatch HGNC:17792 Unspecified VTI1A +OMIM:614316 skos:exactMatch UMLS:C1425079 Unspecified VTI1A +OMIM:614316 skos:exactMatch HGNC_symbol:VTI1A Unspecified VTI1A +OMIM:616980 skos:exactMatch HGNC:22432 Unspecified CYREN +OMIM:616980 skos:exactMatch UMLS:C1824234 Unspecified CYREN +OMIM:616980 skos:exactMatch HGNC_symbol:CYREN Unspecified CYREN +OMIM:616981 skos:exactMatch UMLS:C4310770 Unspecified developmental and epileptic encephalopathy 37 +OMIM:614315 skos:exactMatch UMLS:C1825835 Unspecified ACOT12 +OMIM:614315 skos:exactMatch HGNC:24436 Unspecified ACOT12 +OMIM:614315 skos:exactMatch HGNC_symbol:ACOT12 Unspecified ACOT12 +OMIM:614314 skos:exactMatch UMLS:C1825829 Unspecified ACOT4 +OMIM:614314 skos:exactMatch HGNC_symbol:ACOT4 Unspecified ACOT4 +OMIM:614314 skos:exactMatch HGNC:19748 Unspecified ACOT4 +OMIM:616982 skos:exactMatch HGNC_symbol:PRDM6 Unspecified PRDM6 +OMIM:616982 skos:exactMatch UMLS:C1418877 Unspecified PRDM6 +OMIM:616982 skos:exactMatch HGNC:9350 Unspecified PRDM6 +OMIM:145590 skos:exactMatch UMLS:C1840373 Unspecified hyperthermia, cutaneous, with headaches and nausea +OMIM:614313 skos:exactMatch UMLS:C1825827 Unspecified ACOT1 +OMIM:614313 skos:exactMatch HGNC_symbol:ACOT1 Unspecified ACOT1 +OMIM:614313 skos:exactMatch HGNC:33128 Unspecified ACOT1 +OMIM:616983 skos:exactMatch HGNC:23409 Unspecified ENPP6 +OMIM:616983 skos:exactMatch UMLS:C1428075 Unspecified ENPP6 +OMIM:616983 skos:exactMatch HGNC_symbol:ENPP6 Unspecified ENPP6 +OMIM:614312 skos:exactMatch UMLS:C1427235 Unspecified ZMYND15 +OMIM:614312 skos:exactMatch HGNC:20997 Unspecified ZMYND15 +OMIM:614312 skos:exactMatch HGNC_symbol:ZMYND15 Unspecified ZMYND15 +OMIM:616984 skos:exactMatch HGNC:13782 Unspecified NPVF +OMIM:616984 skos:exactMatch UMLS:C1826468 Unspecified NPVF +OMIM:616984 skos:exactMatch HGNC_symbol:NPVF Unspecified NPVF +OMIM:616974 skos:exactMatch UMLS:C4310773 Unspecified combined oxidative phosphorylation deficiency 30 +OMIM:614322 skos:exactMatch ORPHA:284282 Unspecified spinocerebellar ataxia, autosomal recessive 12 +OMIM:614322 skos:exactMatch UMLS:C3280452 Unspecified spinocerebellar ataxia, autosomal recessive 12 +OMIM:614321 skos:exactMatch UMLS:C3280443 Unspecified myopathy, distal, tateyama iia +OMIM:169550 skos:exactMatch UMLS:C1868508 Unspecified pelvis-shoulder dysplasia +OMIM:616975 skos:exactMatch UMLS:C4310772 Unspecified neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +OMIM:614320 skos:exactMatch UMLS:C3280442 Unspecified pancreatic cancer, susceptibility to, 4 +OMIM:616976 skos:exactMatch HGNC_symbol:TRIM40 Unspecified TRIM40 +OMIM:616976 skos:exactMatch UMLS:C1425747 Unspecified TRIM40 +OMIM:616976 skos:exactMatch HGNC:18736 Unspecified TRIM40 +OMIM:616977 skos:exactMatch UMLS:C4310771 Unspecified mental retardation, autosomal dominant 43 +OMIM:616978 skos:exactMatch HGNC_symbol:CHCHD5 Unspecified CHCHD5 +OMIM:616978 skos:exactMatch HGNC:17840 Unspecified CHCHD5 +OMIM:616978 skos:exactMatch UMLS:C1425121 Unspecified CHCHD5 +OMIM:277300 skos:exactMatch UMLS:C0265343 Unspecified spondylocostal dysostosis 1, autosomal recessive +OMIM:616979 skos:exactMatch UMLS:C2829281 Unspecified DTHD1 +OMIM:616979 skos:exactMatch HGNC:37261 Unspecified DTHD1 +OMIM:616979 skos:exactMatch HGNC_symbol:DTHD1 Unspecified DTHD1 +OMIM:255990 skos:exactMatch UMLS:C1850626 Unspecified nathalie syndrome +OMIM:602340 skos:exactMatch UMLS:C1865645 Unspecified sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth +OMIM:602341 skos:exactMatch HGNC_symbol:FOXM1 Unspecified FOXM1 +OMIM:602341 skos:exactMatch HGNC:3818 Unspecified FOXM1 +OMIM:602341 skos:exactMatch UMLS:C1414685 Unspecified FOXM1 +OMIM:255995 skos:exactMatch ORPHA:168572 Unspecified myopathy, congenital, bailey-bloch +OMIM:255995 skos:exactMatch UMLS:C1850625 Unspecified myopathy, congenital, bailey-bloch +OMIM:602342 skos:exactMatch UMLS:C1865644 Unspecified pierpont syndrome +OMIM:602343 skos:exactMatch HGNC:12333 Unspecified TRPC1 +OMIM:602343 skos:exactMatch UMLS:C1421168 Unspecified TRPC1 +OMIM:602343 skos:exactMatch HGNC_symbol:TRPC1 Unspecified TRPC1 +OMIM:602322 skos:exactMatch UMLS:C1366448 Unspecified TERC +OMIM:602322 skos:exactMatch HGNC_symbol:TERC Unspecified TERC +OMIM:602322 skos:exactMatch HGNC:11727 Unspecified TERC +OMIM:157560 skos:exactMatch UMLS:C1834872 Unspecified minisatellite 33.6 +OMIM:604985 skos:exactMatch HGNC_symbol:SPTBN2 Unspecified SPTBN2 +OMIM:604985 skos:exactMatch HGNC:11276 Unspecified SPTBN2 +OMIM:604985 skos:exactMatch UMLS:C1420389 Unspecified SPTBN2 +OMIM:604984 skos:exactMatch HGNC_symbol:STK24 Unspecified STK24 +OMIM:604984 skos:exactMatch HGNC:11403 Unspecified STK24 +OMIM:604984 skos:exactMatch UMLS:C1420476 Unspecified STK24 +OMIM:602323 skos:exactMatch HGNC_symbol:KCNJ12 Unspecified KCNJ12 +OMIM:602323 skos:exactMatch HGNC:6258 Unspecified KCNJ12 +OMIM:602323 skos:exactMatch UMLS:C1416579 Unspecified KCNJ12 +OMIM:604987 skos:exactMatch UMLS:C1539100 Unspecified CLEC5A +OMIM:604987 skos:exactMatch HGNC:2054 Unspecified CLEC5A +OMIM:604987 skos:exactMatch HGNC_symbol:CLEC5A Unspecified CLEC5A +OMIM:602324 skos:exactMatch UMLS:C1415644 Unspecified HNRNPH3 +OMIM:602324 skos:exactMatch HGNC:5043 Unspecified HNRNPH3 +OMIM:602324 skos:exactMatch HGNC_symbol:HNRNPH3 Unspecified HNRNPH3 +OMIM:602325 skos:exactMatch UMLS:C1414357 Unspecified EIF4G2 +OMIM:602325 skos:exactMatch HGNC_symbol:EIF4G2 Unspecified EIF4G2 +OMIM:602325 skos:exactMatch HGNC:3297 Unspecified EIF4G2 +OMIM:604986 skos:exactMatch UMLS:C1412819 Unspecified BRAP +OMIM:604986 skos:exactMatch HGNC_symbol:BRAP Unspecified BRAP +OMIM:604986 skos:exactMatch HGNC:1099 Unspecified BRAP +OMIM:604989 skos:exactMatch HGNC_symbol:SPON1 Unspecified SPON1 +OMIM:604989 skos:exactMatch HGNC:11252 Unspecified SPON1 +OMIM:604989 skos:exactMatch UMLS:C1420366 Unspecified SPON1 +OMIM:602326 skos:exactMatch UMLS:C1419641 Unspecified RPL23A +OMIM:602326 skos:exactMatch HGNC_symbol:RPL23A Unspecified RPL23A +OMIM:602326 skos:exactMatch HGNC:10317 Unspecified RPL23A +OMIM:604988 skos:exactMatch HGNC:10962 Unspecified SLCO2B1 +OMIM:604988 skos:exactMatch HGNC_symbol:SLCO2B1 Unspecified SLCO2B1 +OMIM:604988 skos:exactMatch UMLS:C1420133 Unspecified SLCO2B1 +OMIM:602327 skos:exactMatch HGNC:9507 Unspecified PSD +OMIM:602327 skos:exactMatch HGNC_symbol:PSD Unspecified PSD +OMIM:602327 skos:exactMatch UMLS:C1418984 Unspecified PSD +OMIM:182500 skos:exactMatch HGNC_symbol:SORD Unspecified SORD +OMIM:182500 skos:exactMatch UMLS:C5394466 Unspecified SORD +OMIM:182500 skos:exactMatch HGNC:11184 Unspecified SORD +OMIM:182500 skos:exactMatch UMLS:C1420311 Unspecified SORD +OMIM:602329 skos:exactMatch HGNC:10717 Unspecified SEL1L +OMIM:602329 skos:exactMatch HGNC_symbol:SEL1L Unspecified SEL1L +OMIM:602329 skos:exactMatch UMLS:C1419939 Unspecified SEL1L +OMIM:614309 skos:exactMatch HGNC_symbol:TRMT44 Unspecified TRMT44 +OMIM:614309 skos:exactMatch UMLS:C1824168 Unspecified TRMT44 +OMIM:614309 skos:exactMatch HGNC:26653 Unspecified TRMT44 +OMIM:614308 skos:exactMatch HGNC:48661 Unspecified FTCDNL1 +OMIM:614308 skos:exactMatch UMLS:C3280437 Unspecified FTCDNL1 +OMIM:614308 skos:exactMatch HGNC_symbol:FTCDNL1 Unspecified FTCDNL1 +OMIM:614307 skos:exactMatch UMLS:C3280428 Unspecified alpha-methylacyl-coa racemase deficiency +OMIM:614306 skos:exactMatch UMLS:C3280415 Unspecified cognitive impairment with or without cerebellar ataxia +OMIM:614305 skos:exactMatch UMLS:C3280402 Unspecified sclerosteosis 2 +OMIM:616970 skos:exactMatch HGNC:28674 Unspecified MARVELD1 +OMIM:616970 skos:exactMatch UMLS:C1428734 Unspecified MARVELD1 +OMIM:616970 skos:exactMatch HGNC_symbol:MARVELD1 Unspecified MARVELD1 +OMIM:614304 skos:exactMatch UMLS:C1537790 Unspecified MIR137 +OMIM:614304 skos:exactMatch HGNC:31523 Unspecified MIR137 +OMIM:614304 skos:exactMatch HGNC_symbol:MIR137 Unspecified MIR137 +OMIM:614303 skos:exactMatch UMLS:C3280392 Unspecified edict syndrome +OMIM:616971 skos:exactMatch UMLS:C1709144 Unspecified ERGIC3 +OMIM:616971 skos:exactMatch HGNC:15927 Unspecified ERGIC3 +OMIM:616971 skos:exactMatch HGNC_symbol:ERGIC3 Unspecified ERGIC3 +OMIM:614302 skos:exactMatch UMLS:C3553060 Unspecified emery-dreifuss muscular dystrophy 7, autosomal dominant +OMIM:616972 skos:exactMatch UMLS:C1826044 Unspecified MIR490 +OMIM:616972 skos:exactMatch HGNC_symbol:MIR490 Unspecified MIR490 +OMIM:616972 skos:exactMatch HGNC:32075 Unspecified MIR490 +OMIM:614301 skos:exactMatch HGNC:33279 Unspecified ATXN1L +OMIM:614301 skos:exactMatch HGNC_symbol:ATXN1L Unspecified ATXN1L +OMIM:614301 skos:exactMatch UMLS:C2239958 Unspecified ATXN1L +OMIM:616973 skos:exactMatch UMLS:C4310774 Unspecified intellectual developmental disorder, autosomal dominant 42 +OMIM:614311 skos:exactMatch HGNC:15885 Unspecified SYNDIG1 +OMIM:614311 skos:exactMatch HGNC_symbol:SYNDIG1 Unspecified SYNDIG1 +OMIM:614311 skos:exactMatch UMLS:C1423805 Unspecified SYNDIG1 +OMIM:616963 skos:exactMatch ORPHA:300547 Unspecified hypercalcemia, infantile, 2 +OMIM:616963 skos:exactMatch UMLS:C4310473 Unspecified hypercalcemia, infantile, 2 +OMIM:614310 skos:exactMatch UMLS:C1824713 Unspecified CEP70 +OMIM:614310 skos:exactMatch HGNC:29972 Unspecified CEP70 +OMIM:614310 skos:exactMatch HGNC_symbol:CEP70 Unspecified CEP70 +OMIM:616965 skos:exactMatch UMLS:C1425948 Unspecified ADGRG5 +OMIM:616965 skos:exactMatch HGNC:19010 Unspecified ADGRG5 +OMIM:616965 skos:exactMatch HGNC_symbol:ADGRG5 Unspecified ADGRG5 +OMIM:616966 skos:exactMatch HGNC:21398 Unspecified ABHD6 +OMIM:616966 skos:exactMatch HGNC_symbol:ABHD6 Unspecified ABHD6 +OMIM:616966 skos:exactMatch UMLS:C1427543 Unspecified ABHD6 +OMIM:616967 skos:exactMatch HGNC_symbol:TXNDC17 Unspecified TXNDC17 +OMIM:616967 skos:exactMatch UMLS:C1428681 Unspecified TXNDC17 +OMIM:616967 skos:exactMatch HGNC:28218 Unspecified TXNDC17 +OMIM:616968 skos:exactMatch UMLS:C4310775 Unspecified deafness, autosomal dominant 70 +OMIM:616969 skos:exactMatch UMLS:C4283893 Unspecified deafness, autosomal dominant 66 +OMIM:169545 skos:exactMatch UMLS:C1868511 Unspecified pelvic lipomatosis with crossed renal ectopia +OMIM:314700 skos:exactMatch UMLS:C1292284 Unspecified blood group, 10g system +OMIM:314705 skos:exactMatch UMLS:C1839098 Unspecified XGR +OMIM:604990 skos:exactMatch HGNC:11075 Unspecified SLC9A3R1 +OMIM:604990 skos:exactMatch HGNC_symbol:SLC9A3R1 Unspecified SLC9A3R1 +OMIM:604990 skos:exactMatch UMLS:C1420236 Unspecified SLC9A3R1 +OMIM:604992 skos:exactMatch HGNC_symbol:SRL Unspecified SRL +OMIM:604992 skos:exactMatch HGNC:11295 Unspecified SRL +OMIM:604992 skos:exactMatch UMLS:C1420403 Unspecified SRL +OMIM:602330 skos:exactMatch HGNC:78 Unspecified ABLIM1 +OMIM:602330 skos:exactMatch UMLS:C1412098 Unspecified ABLIM1 +OMIM:602330 skos:exactMatch HGNC_symbol:ABLIM1 Unspecified ABLIM1 +OMIM:604991 skos:exactMatch UMLS:C1857983 Unspecified PART1 +OMIM:604991 skos:exactMatch HGNC:17263 Unspecified PART1 +OMIM:604991 skos:exactMatch HGNC_symbol:PART1 Unspecified PART1 +OMIM:602331 skos:exactMatch HGNC:8491 Unspecified ORC5 +OMIM:602331 skos:exactMatch HGNC_symbol:ORC5 Unspecified ORC5 +OMIM:602331 skos:exactMatch UMLS:C1335087 Unspecified ORC5 +OMIM:604994 skos:exactMatch HGNC_symbol:SIX2 Unspecified SIX2 +OMIM:604994 skos:exactMatch UMLS:C1420073 Unspecified SIX2 +OMIM:604994 skos:exactMatch HGNC:10888 Unspecified SIX2 +OMIM:602332 skos:exactMatch HGNC_symbol:NCAPH Unspecified NCAPH +OMIM:602332 skos:exactMatch UMLS:C1826384 Unspecified NCAPH +OMIM:602332 skos:exactMatch HGNC:1112 Unspecified NCAPH +OMIM:604993 skos:exactMatch HGNC_symbol:PRPF18 Unspecified PRPF18 +OMIM:604993 skos:exactMatch UMLS:C1424924 Unspecified PRPF18 +OMIM:604993 skos:exactMatch HGNC:17351 Unspecified PRPF18 +OMIM:602399 skos:exactMatch UMLS:C1366897 Unspecified MAPK12 +OMIM:602399 skos:exactMatch HGNC_symbol:MAPK12 Unspecified MAPK12 +OMIM:602399 skos:exactMatch HGNC:6874 Unspecified MAPK12 +OMIM:300111 skos:exactMatch HGNC_symbol:PRICKLE3 Unspecified PRICKLE3 +OMIM:300111 skos:exactMatch HGNC:6645 Unspecified PRICKLE3 +OMIM:300111 skos:exactMatch UMLS:C1416884 Unspecified PRICKLE3 +OMIM:300110 skos:exactMatch UMLS:C1413060 Unspecified CACNA1F +OMIM:300110 skos:exactMatch HGNC_symbol:CACNA1F Unspecified CACNA1F +OMIM:300110 skos:exactMatch HGNC:1393 Unspecified CACNA1F +OMIM:265300 skos:exactMatch ORPHA:2414 Unspecified lymphangiectasia, pulmonary, congenital +OMIM:265300 skos:exactMatch UMLS:C1849554 Unspecified lymphangiectasia, pulmonary, congenital +OMIM:300113 skos:exactMatch UMLS:C1848088 Unspecified X-linked B cell surface antigen, mouse, homolog-like 1 +OMIM:300112 skos:exactMatch UMLS:C1418655 Unspecified PLP2 +OMIM:300112 skos:exactMatch HGNC_symbol:PLP2 Unspecified PLP2 +OMIM:300112 skos:exactMatch HGNC:9087 Unspecified PLP2 +OMIM:300115 skos:exactMatch UMLS:C1848087 Unspecified intellectual developmental disorder, X-linked 50 +OMIM:300114 skos:exactMatch UMLS:C0796221 Unspecified raynaud-claes syndrome +OMIM:300114 skos:exactMatch UMLS:C3887959 Unspecified raynaud-claes syndrome +OMIM:194535 skos:exactMatch UMLS:C1860227 Unspecified ZNF29P +OMIM:194535 skos:exactMatch HGNC_symbol:ZNF29P Unspecified ZNF29P +OMIM:194535 skos:exactMatch HGNC:13080 Unspecified ZNF29P +OMIM:300117 skos:exactMatch HGNC_symbol:NAP1L3 Unspecified NAP1L3 +OMIM:300117 skos:exactMatch HGNC:7639 Unspecified NAP1L3 +OMIM:300117 skos:exactMatch UMLS:C1417597 Unspecified NAP1L3 +OMIM:300116 skos:exactMatch HGNC:7423 Unspecified MTCP1 +OMIM:300116 skos:exactMatch HGNC_symbol:MTCP1 Unspecified MTCP1 +OMIM:300116 skos:exactMatch UMLS:C1334535 Unspecified MTCP1 +OMIM:194536 skos:exactMatch HGNC:12902 Unspecified ZNF12 +OMIM:194536 skos:exactMatch UMLS:C1421610 Unspecified ZNF12 +OMIM:194536 skos:exactMatch HGNC_symbol:ZNF12 Unspecified ZNF12 +OMIM:194537 skos:exactMatch HGNC:13053 Unspecified ZNF26 +OMIM:194537 skos:exactMatch UMLS:C1421747 Unspecified ZNF26 +OMIM:194537 skos:exactMatch HGNC_symbol:ZNF26 Unspecified ZNF26 +OMIM:300119 skos:exactMatch HGNC_symbol:IL13RA1 Unspecified IL13RA1 +OMIM:300119 skos:exactMatch HGNC:5974 Unspecified IL13RA1 +OMIM:300119 skos:exactMatch UMLS:C1416385 Unspecified IL13RA1 +OMIM:300118 skos:exactMatch HGNC:676 Unspecified ARHGAP6 +OMIM:300118 skos:exactMatch HGNC_symbol:ARHGAP6 Unspecified ARHGAP6 +OMIM:300118 skos:exactMatch UMLS:C1412523 Unspecified ARHGAP6 +OMIM:194538 skos:exactMatch HGNC:12879 Unspecified ZNF10 +OMIM:194538 skos:exactMatch UMLS:C1421588 Unspecified ZNF10 +OMIM:194538 skos:exactMatch HGNC_symbol:ZNF10 Unspecified ZNF10 +OMIM:228355 skos:exactMatch UMLS:C0342200 Unspecified fetal iodine deficiency disorder +OMIM:194539 skos:exactMatch HGNC:13095 Unspecified ZNF32 +OMIM:194539 skos:exactMatch UMLS:C1421786 Unspecified ZNF32 +OMIM:194539 skos:exactMatch HGNC_symbol:ZNF32 Unspecified ZNF32 +OMIM:614379 skos:exactMatch UMLS:C3280641 Unspecified complement component 4b deficiency +OMIM:614378 skos:exactMatch UMLS:C3280616 Unspecified cranioectodermal dysplasia 4 +OMIM:614388 skos:exactMatch ORPHA:330050 Unspecified encephalopathy due to defective mitochondrial and peroxisomal fission 1 +OMIM:614388 skos:exactMatch UMLS:C3280660 Unspecified encephalopathy due to defective mitochondrial and peroxisomal fission 1 +OMIM:614387 skos:exactMatch HGNC_symbol:ZNF526 Unspecified ZNF526 +OMIM:614387 skos:exactMatch HGNC:29415 Unspecified ZNF526 +OMIM:614387 skos:exactMatch UMLS:C1428857 Unspecified ZNF526 +OMIM:614386 skos:exactMatch UMLS:C1826724 Unspecified PRRT2 +OMIM:614386 skos:exactMatch HGNC_symbol:PRRT2 Unspecified PRRT2 +OMIM:614386 skos:exactMatch HGNC:30500 Unspecified PRRT2 +OMIM:253310 skos:exactMatch UMLS:C1854664 Unspecified lethal congenital contracture syndrome 1 +OMIM:614385 skos:exactMatch UMLS:C1858380 Unspecified colorectal cancer, hereditary nonpolyposis, iia 7 +OMIM:194531 skos:exactMatch HGNC_symbol:ZNF7 Unspecified ZNF7 +OMIM:194531 skos:exactMatch UMLS:C1421823 Unspecified ZNF7 +OMIM:194531 skos:exactMatch HGNC:13139 Unspecified ZNF7 +OMIM:614384 skos:exactMatch HGNC_symbol:MIR492 Unspecified MIR492 +OMIM:614384 skos:exactMatch HGNC:32081 Unspecified MIR492 +OMIM:614384 skos:exactMatch UMLS:C1826046 Unspecified MIR492 +OMIM:194532 skos:exactMatch HGNC_symbol:ZNF8 Unspecified ZNF8 +OMIM:194532 skos:exactMatch UMLS:C1421838 Unspecified ZNF8 +OMIM:194532 skos:exactMatch HGNC:13154 Unspecified ZNF8 +OMIM:614383 skos:exactMatch UMLS:C3280647 Unspecified bacteremia, susceptibility to, 2 +OMIM:194533 skos:exactMatch UMLS:C1421790 Unspecified ZNF35 +OMIM:194533 skos:exactMatch HGNC_symbol:ZNF35 Unspecified ZNF35 +OMIM:194533 skos:exactMatch HGNC:13099 Unspecified ZNF35 +OMIM:614382 skos:exactMatch UMLS:C3280645 Unspecified bacteremia, susceptibility to, 1 +OMIM:614382 skos:exactMatch UMLS:C3280646 Unspecified bacteremia, susceptibility to, 1 +OMIM:614381 skos:exactMatch UMLS:C3280644 Unspecified leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism +OMIM:194534 skos:exactMatch UMLS:C1421727 Unspecified ZNF24 +OMIM:194534 skos:exactMatch HGNC_symbol:ZNF24 Unspecified ZNF24 +OMIM:194534 skos:exactMatch HGNC:13032 Unspecified ZNF24 +OMIM:614380 skos:exactMatch UMLS:C3280642 Unspecified complement component 4a deficiency +OMIM:602388 skos:exactMatch HGNC_symbol:SYMPK Unspecified SYMPK +OMIM:602388 skos:exactMatch HGNC:22935 Unspecified SYMPK +OMIM:602388 skos:exactMatch UMLS:C1427791 Unspecified SYMPK +OMIM:300120 skos:exactMatch UMLS:C1413834 Unspecified MAMLD1 +OMIM:300120 skos:exactMatch HGNC_symbol:MAMLD1 Unspecified MAMLD1 +OMIM:300120 skos:exactMatch HGNC:2568 Unspecified MAMLD1 +OMIM:602389 skos:exactMatch HGNC_symbol:TUFM Unspecified TUFM +OMIM:602389 skos:exactMatch HGNC:12420 Unspecified TUFM +OMIM:602389 skos:exactMatch UMLS:C1421238 Unspecified TUFM +OMIM:300121 skos:exactMatch UMLS:C1413938 Unspecified DCX +OMIM:300121 skos:exactMatch UMLS:C4551968 Unspecified DCX +OMIM:300121 skos:exactMatch UMLS:C1848070 Unspecified DCX +OMIM:300121 skos:exactMatch HGNC_symbol:DCX Unspecified DCX +OMIM:300121 skos:exactMatch HGNC:2714 Unspecified DCX +OMIM:300124 skos:exactMatch HGNC:30189 Unspecified GTPBP6 +OMIM:300124 skos:exactMatch HGNC_symbol:GTPBP6 Unspecified GTPBP6 +OMIM:300124 skos:exactMatch UMLS:C1539624 Unspecified GTPBP6 +OMIM:300123 skos:exactMatch UMLS:C2678223 Unspecified intellectual developmental disorder, x-linked, with panhypopituitarism +OMIM:300123 skos:exactMatch UMLS:C1848068 Unspecified intellectual developmental disorder, x-linked, with panhypopituitarism +OMIM:300126 skos:exactMatch HGNC_symbol:DKC1 Unspecified DKC1 +OMIM:300126 skos:exactMatch HGNC:2890 Unspecified DKC1 +OMIM:300126 skos:exactMatch UMLS:C1414056 Unspecified DKC1 +OMIM:300125 skos:exactMatch UMLS:C1848066 Unspecified migraine with or without aura, susceptibility to, 2 +OMIM:194546 skos:exactMatch UMLS:C1421826 Unspecified ZNF72 +OMIM:194546 skos:exactMatch HGNC_symbol:ZNF72P Unspecified ZNF72 +OMIM:194546 skos:exactMatch HGNC:13142 Unspecified ZNF72 +OMIM:300128 skos:exactMatch HGNC:12637 Unspecified KDM6A +OMIM:300128 skos:exactMatch UMLS:C1421414 Unspecified KDM6A +OMIM:300128 skos:exactMatch HGNC_symbol:KDM6A Unspecified KDM6A +OMIM:300127 skos:exactMatch HGNC:8148 Unspecified OPHN1 +OMIM:300127 skos:exactMatch HGNC_symbol:OPHN1 Unspecified OPHN1 +OMIM:300127 skos:exactMatch UMLS:C1417960 Unspecified OPHN1 +OMIM:194547 skos:exactMatch UMLS:C1421827 Unspecified ZNF73 +OMIM:194547 skos:exactMatch HGNC_symbol:ZNF73P Unspecified ZNF73 +OMIM:194547 skos:exactMatch HGNC:13143 Unspecified ZNF73 +OMIM:194548 skos:exactMatch UMLS:C1421828 Unspecified ZNF74 +OMIM:194548 skos:exactMatch HGNC_symbol:ZNF74 Unspecified ZNF74 +OMIM:194548 skos:exactMatch HGNC:13144 Unspecified ZNF74 +OMIM:300129 skos:exactMatch UMLS:C1848046 Unspecified hematopoietic stem cell kinetics, control of +OMIM:194549 skos:exactMatch UMLS:C1421833 Unspecified ZNF76 +OMIM:194549 skos:exactMatch HGNC_symbol:ZNF76 Unspecified ZNF76 +OMIM:194549 skos:exactMatch HGNC:13149 Unspecified ZNF76 +OMIM:614369 skos:exactMatch UMLS:C3280556 Unspecified peripheral neuropathy, myopathy, hoarseness, and hearing loss +OMIM:614368 skos:exactMatch HGNC_symbol:AP5M1 Unspecified AP5M1 +OMIM:614368 skos:exactMatch HGNC:20192 Unspecified AP5M1 +OMIM:614368 skos:exactMatch UMLS:C1426765 Unspecified AP5M1 +OMIM:614367 skos:exactMatch HGNC_symbol:AP5B1 Unspecified AP5B1 +OMIM:614367 skos:exactMatch UMLS:C3280555 Unspecified AP5B1 +OMIM:614367 skos:exactMatch HGNC:25104 Unspecified AP5B1 +OMIM:614377 skos:exactMatch UMLS:C3280612 Unspecified nephronophthisis 13 +OMIM:614376 skos:exactMatch UMLS:C3280598 Unspecified short-rib thoracic dysplasia 5 with or without polydactyly +OMIM:194540 skos:exactMatch HGNC:4920 Unspecified HIVEP1 +OMIM:194540 skos:exactMatch UMLS:C1415552 Unspecified HIVEP1 +OMIM:194540 skos:exactMatch HGNC_symbol:HIVEP1 Unspecified HIVEP1 +OMIM:253320 skos:exactMatch UMLS:C1854663 Unspecified multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism +OMIM:614375 skos:exactMatch UMLS:C3280597 Unspecified aortic aneurysm, familial abdominal, 4 +OMIM:614374 skos:exactMatch UMLS:C1292315 Unspecified blood group, chido/rodgers system +OMIM:194541 skos:exactMatch HGNC_symbol:ZBTB25 Unspecified ZBTB25 +OMIM:194541 skos:exactMatch UMLS:C1823903 Unspecified ZBTB25 +OMIM:194541 skos:exactMatch HGNC:13112 Unspecified ZBTB25 +OMIM:194542 skos:exactMatch UMLS:C1421800 Unspecified ZNF44 +OMIM:194542 skos:exactMatch HGNC_symbol:ZNF44 Unspecified ZNF44 +OMIM:194542 skos:exactMatch HGNC:13110 Unspecified ZNF44 +OMIM:614373 skos:exactMatch UMLS:C3280587 Unspecified amyotrophic lateral sclerosis 16, juvenile +OMIM:194543 skos:exactMatch UMLS:C1421822 Unspecified ZNF69 +OMIM:194543 skos:exactMatch HGNC_symbol:ZNF69 Unspecified ZNF69 +OMIM:194543 skos:exactMatch HGNC:13138 Unspecified ZNF69 +OMIM:614372 skos:exactMatch UMLS:C3280586 Unspecified mannose-binding lectin deficiency +OMIM:194544 skos:exactMatch UMLS:C1421824 Unspecified ZNF70 +OMIM:194544 skos:exactMatch HGNC_symbol:ZNF70 Unspecified ZNF70 +OMIM:194544 skos:exactMatch HGNC:13140 Unspecified ZNF70 +OMIM:614371 skos:exactMatch UMLS:C3280585 Unspecified dengue virus, susceptibility to +OMIM:614371 skos:exactMatch UMLS:C3280584 Unspecified dengue virus, susceptibility to +OMIM:614371 skos:exactMatch UMLS:C3280583 Unspecified dengue virus, susceptibility to +OMIM:614371 skos:exactMatch UMLS:C3280582 Unspecified dengue virus, susceptibility to +OMIM:614371 skos:exactMatch UMLS:C1858186 Unspecified dengue virus, susceptibility to +OMIM:602390 skos:exactMatch UMLS:C1865614 Unspecified hemochromatosis, iia 2a +OMIM:602390 skos:exactMatch UMLS:C0268060 Unspecified hemochromatosis, iia 2a +OMIM:194545 skos:exactMatch UMLS:C1421825 Unspecified ZNF71 +OMIM:194545 skos:exactMatch HGNC_symbol:ZNF71 Unspecified ZNF71 +OMIM:194545 skos:exactMatch HGNC:13141 Unspecified ZNF71 +OMIM:614370 skos:exactMatch UMLS:C3280574 Unspecified surfactant metabolism dysfunction, pulmonary, 5 +OMIM:602391 skos:exactMatch HGNC:8830 Unspecified PEMT +OMIM:602391 skos:exactMatch UMLS:C4017667 Unspecified PEMT +OMIM:602391 skos:exactMatch HGNC_symbol:PEMT Unspecified PEMT +OMIM:602391 skos:exactMatch UMLS:C1418456 Unspecified PEMT +OMIM:602392 skos:exactMatch HGNC:4848 Unspecified HCRTR1 +OMIM:602392 skos:exactMatch UMLS:C1415501 Unspecified HCRTR1 +OMIM:602392 skos:exactMatch HGNC_symbol:HCRTR1 Unspecified HCRTR1 +OMIM:602393 skos:exactMatch HGNC:4849 Unspecified HCRTR2 +OMIM:602393 skos:exactMatch HGNC_symbol:HCRTR2 Unspecified HCRTR2 +OMIM:602393 skos:exactMatch UMLS:C1415502 Unspecified HCRTR2 +OMIM:602394 skos:exactMatch HGNC:15608 Unspecified NOLC1 +OMIM:602394 skos:exactMatch HGNC_symbol:NOLC1 Unspecified NOLC1 +OMIM:602394 skos:exactMatch UMLS:C1423614 Unspecified NOLC1 +OMIM:602395 skos:exactMatch HGNC_symbol:GPAM Unspecified GPAM +OMIM:602395 skos:exactMatch UMLS:C1539593 Unspecified GPAM +OMIM:602395 skos:exactMatch HGNC:24865 Unspecified GPAM +OMIM:602396 skos:exactMatch HGNC_symbol:ANXA8 Unspecified ANXA8 +OMIM:602396 skos:exactMatch HGNC:546 Unspecified ANXA8 +OMIM:602396 skos:exactMatch UMLS:C1332096 Unspecified ANXA8 +OMIM:602397 skos:exactMatch HGNC:3706 Unspecified ATP8B1 +OMIM:602397 skos:exactMatch HGNC_symbol:ATP8B1 Unspecified ATP8B1 +OMIM:602397 skos:exactMatch UMLS:C1414614 Unspecified ATP8B1 +OMIM:602398 skos:exactMatch UMLS:C1865596 Unspecified desmosterolosis +OMIM:602377 skos:exactMatch UMLS:C4225357 Unspecified DNM1 +OMIM:602377 skos:exactMatch UMLS:C1414118 Unspecified DNM1 +OMIM:602377 skos:exactMatch HGNC:2972 Unspecified DNM1 +OMIM:602377 skos:exactMatch HGNC_symbol:DNM1 Unspecified DNM1 +OMIM:602378 skos:exactMatch UMLS:C4551952 Unspecified DNM2 +OMIM:602378 skos:exactMatch UMLS:C3809272 Unspecified DNM2 +OMIM:602378 skos:exactMatch UMLS:C1414120 Unspecified DNM2 +OMIM:602378 skos:exactMatch HGNC:2974 Unspecified DNM2 +OMIM:602378 skos:exactMatch HGNC_symbol:DNM2 Unspecified DNM2 +OMIM:602378 skos:exactMatch UMLS:C1847902 Unspecified DNM2 +OMIM:182530 skos:exactMatch HGNC_symbol:SOS1 Unspecified SOS1 +OMIM:182530 skos:exactMatch HGNC:11187 Unspecified SOS1 +OMIM:182530 skos:exactMatch UMLS:C1420314 Unspecified SOS1 +OMIM:182530 skos:exactMatch UMLS:C1853120 Unspecified SOS1 +OMIM:182530 skos:exactMatch UMLS:C4551558 Unspecified SOS1 +OMIM:614359 skos:exactMatch HGNC:30931 Unspecified ACSM2B +OMIM:614359 skos:exactMatch UMLS:C1825839 Unspecified ACSM2B +OMIM:614359 skos:exactMatch HGNC_symbol:ACSM2B Unspecified ACSM2B +OMIM:241310 skos:exactMatch UMLS:C1855848 Unspecified hypomandibular faciocranial dysostosis +OMIM:614358 skos:exactMatch UMLS:C2240361 Unspecified ACSM2A +OMIM:614358 skos:exactMatch HGNC_symbol:ACSM2A Unspecified ACSM2A +OMIM:614358 skos:exactMatch HGNC:32017 Unspecified ACSM2A +OMIM:614357 skos:exactMatch HGNC:18049 Unspecified ACSM1 +OMIM:614357 skos:exactMatch UMLS:C1825838 Unspecified ACSM1 +OMIM:614357 skos:exactMatch HGNC_symbol:ACSM1 Unspecified ACSM1 +OMIM:614356 skos:exactMatch HGNC:24723 Unspecified ACSS3 +OMIM:614356 skos:exactMatch UMLS:C2240364 Unspecified ACSS3 +OMIM:614356 skos:exactMatch HGNC_symbol:ACSS3 Unspecified ACSS3 +OMIM:614366 skos:exactMatch UMLS:C1538696 Unspecified POLR3B +OMIM:614366 skos:exactMatch HGNC:30348 Unspecified POLR3B +OMIM:614366 skos:exactMatch HGNC_symbol:POLR3B Unspecified POLR3B +OMIM:614365 skos:exactMatch UMLS:C2240229 Unspecified AASDH +OMIM:614365 skos:exactMatch HGNC:23993 Unspecified AASDH +OMIM:614365 skos:exactMatch HGNC_symbol:AASDH Unspecified AASDH +OMIM:614364 skos:exactMatch HGNC:21298 Unspecified AACS +OMIM:614364 skos:exactMatch UMLS:C1427475 Unspecified AACS +OMIM:614364 skos:exactMatch HGNC_symbol:AACS Unspecified AACS +OMIM:614363 skos:exactMatch HGNC_symbol:ACSBG2 Unspecified ACSBG2 +OMIM:614363 skos:exactMatch UMLS:C1825837 Unspecified ACSBG2 +OMIM:614363 skos:exactMatch HGNC:24174 Unspecified ACSBG2 +OMIM:614362 skos:exactMatch HGNC_symbol:ACSBG1 Unspecified ACSBG1 +OMIM:614362 skos:exactMatch UMLS:C1825836 Unspecified ACSBG1 +OMIM:614362 skos:exactMatch HGNC:29567 Unspecified ACSBG1 +OMIM:194510 skos:exactMatch HGNC:13089 Unspecified ZNF3 +OMIM:194510 skos:exactMatch HGNC_symbol:ZNF3 Unspecified ZNF3 +OMIM:194510 skos:exactMatch UMLS:C1421780 Unspecified ZNF3 +OMIM:614361 skos:exactMatch UMLS:C2240363 Unspecified ACSM5 +OMIM:614361 skos:exactMatch HGNC_symbol:ACSM5 Unspecified ACSM5 +OMIM:614361 skos:exactMatch HGNC:26060 Unspecified ACSM5 +OMIM:614360 skos:exactMatch UMLS:C2240362 Unspecified ACSM4 +OMIM:614360 skos:exactMatch HGNC:32016 Unspecified ACSM4 +OMIM:614360 skos:exactMatch HGNC_symbol:ACSM4 Unspecified ACSM4 +OMIM:602380 skos:exactMatch UMLS:C1421365 Unspecified UPK1B +OMIM:602380 skos:exactMatch HGNC_symbol:UPK1B Unspecified UPK1B +OMIM:602380 skos:exactMatch HGNC:12578 Unspecified UPK1B +OMIM:602381 skos:exactMatch UMLS:C1417589 Unspecified NAB2 +OMIM:602381 skos:exactMatch HGNC:7627 Unspecified NAB2 +OMIM:602381 skos:exactMatch HGNC_symbol:NAB2 Unspecified NAB2 +OMIM:602382 skos:exactMatch UMLS:C1418641 Unspecified PLD1 +OMIM:602382 skos:exactMatch HGNC_symbol:PLD1 Unspecified PLD1 +OMIM:602382 skos:exactMatch HGNC:9067 Unspecified PLD1 +OMIM:602383 skos:exactMatch UMLS:C1417944 Unspecified OGN +OMIM:602383 skos:exactMatch HGNC:8126 Unspecified OGN +OMIM:602383 skos:exactMatch HGNC_symbol:OGN Unspecified OGN +OMIM:602384 skos:exactMatch UMLS:C1418642 Unspecified PLD2 +OMIM:602384 skos:exactMatch HGNC_symbol:PLD2 Unspecified PLD2 +OMIM:602384 skos:exactMatch HGNC:9068 Unspecified PLD2 +OMIM:602385 skos:exactMatch HGNC:11456 Unspecified SULT1C2 +OMIM:602385 skos:exactMatch HGNC_symbol:SULT1C2 Unspecified SULT1C2 +OMIM:602385 skos:exactMatch UMLS:C1420517 Unspecified SULT1C2 +OMIM:602386 skos:exactMatch UMLS:C1421700 Unspecified ZNF212 +OMIM:602386 skos:exactMatch HGNC_symbol:ZNF212 Unspecified ZNF212 +OMIM:602386 skos:exactMatch HGNC:13004 Unspecified ZNF212 +OMIM:602387 skos:exactMatch HGNC_symbol:RBMS2 Unspecified RBMS2 +OMIM:602387 skos:exactMatch HGNC:9909 Unspecified RBMS2 +OMIM:602387 skos:exactMatch UMLS:C1419307 Unspecified RBMS2 +OMIM:602366 skos:exactMatch HGNC:6040 Unspecified ILK +OMIM:602366 skos:exactMatch UMLS:C2986382 Unspecified ILK +OMIM:602366 skos:exactMatch HGNC_symbol:ILK Unspecified ILK +OMIM:602366 skos:exactMatch UMLS:C1334128 Unspecified ILK +OMIM:602367 skos:exactMatch HGNC:7952 Unspecified NPTX1 +OMIM:602367 skos:exactMatch HGNC_symbol:NPTX1 Unspecified NPTX1 +OMIM:602367 skos:exactMatch UMLS:C1417812 Unspecified NPTX1 +OMIM:300100 skos:exactMatch UMLS:C1527231 Unspecified adrenoleukodystrophy +OMIM:300100 skos:exactMatch UMLS:C0162309 Unspecified adrenoleukodystrophy +OMIM:602368 skos:exactMatch HGNC:4576 Unspecified GRID2 +OMIM:602368 skos:exactMatch UMLS:C1415291 Unspecified GRID2 +OMIM:602368 skos:exactMatch HGNC_symbol:GRID2 Unspecified GRID2 +OMIM:602369 skos:exactMatch UMLS:C1413896 Unspecified CCN1 +OMIM:602369 skos:exactMatch HGNC:2654 Unspecified CCN1 +OMIM:602369 skos:exactMatch HGNC_symbol:CCN1 Unspecified CCN1 +OMIM:300102 skos:exactMatch UMLS:C2986382 Unspecified PNPLA4 +OMIM:300102 skos:exactMatch HGNC_symbol:PNPLA4 Unspecified PNPLA4 +OMIM:300102 skos:exactMatch UMLS:C1538687 Unspecified PNPLA4 +OMIM:300102 skos:exactMatch HGNC:24887 Unspecified PNPLA4 +OMIM:300101 skos:exactMatch HGNC_symbol:BMX Unspecified BMX +OMIM:300101 skos:exactMatch UMLS:C1332433 Unspecified BMX +OMIM:300101 skos:exactMatch HGNC:1079 Unspecified BMX +OMIM:300104 skos:exactMatch UMLS:C1415038 Unspecified GDI1 +OMIM:300104 skos:exactMatch HGNC_symbol:GDI1 Unspecified GDI1 +OMIM:300104 skos:exactMatch HGNC:4226 Unspecified GDI1 +OMIM:300103 skos:exactMatch HGNC_symbol:SHROOM2 Unspecified SHROOM2 +OMIM:300103 skos:exactMatch HGNC:630 Unspecified SHROOM2 +OMIM:300103 skos:exactMatch UMLS:C1822720 Unspecified SHROOM2 +OMIM:194524 skos:exactMatch HGNC:12969 Unspecified ZNF18 +OMIM:194524 skos:exactMatch UMLS:C1421668 Unspecified ZNF18 +OMIM:194524 skos:exactMatch HGNC_symbol:ZNF18 Unspecified ZNF18 +OMIM:300106 skos:exactMatch UMLS:C1848097 Unspecified spondyloepimetaphyseal dysplasia, X-linked +OMIM:300105 skos:exactMatch HGNC_symbol:SMS Unspecified SMS +OMIM:300105 skos:exactMatch HGNC:11123 Unspecified SMS +OMIM:300105 skos:exactMatch UMLS:C1420262 Unspecified SMS +OMIM:194525 skos:exactMatch HGNC:12981 Unspecified ZNF19 +OMIM:194525 skos:exactMatch UMLS:C1421679 Unspecified ZNF19 +OMIM:194525 skos:exactMatch HGNC_symbol:ZNF19 Unspecified ZNF19 +OMIM:300108 skos:exactMatch UMLS:C1414048 Unspecified DIAPH2 +OMIM:300108 skos:exactMatch HGNC:2877 Unspecified DIAPH2 +OMIM:300108 skos:exactMatch HGNC_symbol:DIAPH2 Unspecified DIAPH2 +OMIM:194526 skos:exactMatch HGNC:13098 Unspecified ZNF34 +OMIM:194526 skos:exactMatch UMLS:C1421789 Unspecified ZNF34 +OMIM:194526 skos:exactMatch HGNC_symbol:ZNF34 Unspecified ZNF34 +OMIM:300107 skos:exactMatch HGNC:1113 Unspecified BRS3 +OMIM:300107 skos:exactMatch HGNC_symbol:BRS3 Unspecified BRS3 +OMIM:300107 skos:exactMatch UMLS:C1332451 Unspecified BRS3 +OMIM:614349 skos:exactMatch UMLS:C1538210 Unspecified ZNF638 +OMIM:614349 skos:exactMatch HGNC_symbol:ZNF638 Unspecified ZNF638 +OMIM:614349 skos:exactMatch HGNC:17894 Unspecified ZNF638 +OMIM:194527 skos:exactMatch HGNC:13023 Unspecified ZNF23 +OMIM:194527 skos:exactMatch UMLS:C1421719 Unspecified ZNF23 +OMIM:194527 skos:exactMatch HGNC_symbol:ZNF23 Unspecified ZNF23 +OMIM:614348 skos:exactMatch HGNC:21214 Unspecified ADTRP +OMIM:614348 skos:exactMatch UMLS:C1427421 Unspecified ADTRP +OMIM:614348 skos:exactMatch HGNC_symbol:ADTRP Unspecified ADTRP +OMIM:194528 skos:exactMatch HGNC:13043 Unspecified ZNF25 +OMIM:194528 skos:exactMatch UMLS:C1421738 Unspecified ZNF25 +OMIM:194528 skos:exactMatch HGNC_symbol:ZNF25 Unspecified ZNF25 +OMIM:300109 skos:exactMatch HGNC_symbol:PPEF1 Unspecified PPEF1 +OMIM:300109 skos:exactMatch HGNC:9243 Unspecified PPEF1 +OMIM:300109 skos:exactMatch UMLS:C1418783 Unspecified PPEF1 +OMIM:614347 skos:exactMatch UMLS:C3280545 Unspecified intellectual developmental disorder, autosomal recessive 28 +OMIM:194529 skos:exactMatch HGNC:13012 Unspecified ZNF22 +OMIM:194529 skos:exactMatch UMLS:C1421708 Unspecified ZNF22 +OMIM:194529 skos:exactMatch HGNC_symbol:ZNF22 Unspecified ZNF22 +OMIM:614346 skos:exactMatch UMLS:C3280544 Unspecified intellectual developmental disorder, autosomal recessive 25 +OMIM:614345 skos:exactMatch UMLS:C3280543 Unspecified intellectual developmental disorder, autosomal recessive 24 +OMIM:614355 skos:exactMatch UMLS:C1825841 Unspecified ACSS1 +OMIM:614355 skos:exactMatch HGNC:16091 Unspecified ACSS1 +OMIM:614355 skos:exactMatch HGNC_symbol:ACSS1 Unspecified ACSS1 +OMIM:614354 skos:exactMatch UMLS:C3280546 Unspecified None +OMIM:614353 skos:exactMatch UMLS:C2681560 Unspecified HAS2AS1 +OMIM:614353 skos:exactMatch HGNC_symbol:HAS2-AS1 Unspecified HAS2AS1 +OMIM:614353 skos:exactMatch HGNC:34340 Unspecified HAS2AS1 +OMIM:614352 skos:exactMatch UMLS:C4225165 Unspecified NUP205 +OMIM:614352 skos:exactMatch HGNC:18658 Unspecified NUP205 +OMIM:614352 skos:exactMatch HGNC_symbol:NUP205 Unspecified NUP205 +OMIM:614352 skos:exactMatch UMLS:C1425685 Unspecified NUP205 +OMIM:255960 skos:exactMatch UMLS:C2931787 Unspecified myxoma, intracardiac +OMIM:614351 skos:exactMatch UMLS:C4225166 Unspecified NUP93 +OMIM:614351 skos:exactMatch HGNC_symbol:NUP93 Unspecified NUP93 +OMIM:614351 skos:exactMatch UMLS:C1428756 Unspecified NUP93 +OMIM:614351 skos:exactMatch HGNC:28958 Unspecified NUP93 +OMIM:614350 skos:exactMatch UMLS:C1833477 Unspecified colorectal cancer, hereditary nonpolyposis, iia 5 +OMIM:194521 skos:exactMatch UMLS:C1421787 Unspecified ZNF33A +OMIM:194521 skos:exactMatch HGNC_symbol:ZNF33A Unspecified ZNF33A +OMIM:194521 skos:exactMatch HGNC:13096 Unspecified ZNF33A +OMIM:194522 skos:exactMatch HGNC:13097 Unspecified ZNF33B +OMIM:194522 skos:exactMatch UMLS:C1421788 Unspecified ZNF33B +OMIM:194522 skos:exactMatch HGNC_symbol:ZNF33B Unspecified ZNF33B +OMIM:602370 skos:exactMatch HGNC:4375 Unspecified GML +OMIM:602370 skos:exactMatch UMLS:C1415134 Unspecified GML +OMIM:602370 skos:exactMatch HGNC_symbol:GML Unspecified GML +OMIM:602371 skos:exactMatch HGNC:3570 Unspecified ACSL3 +OMIM:602371 skos:exactMatch UMLS:C1414519 Unspecified ACSL3 +OMIM:602371 skos:exactMatch HGNC_symbol:ACSL3 Unspecified ACSL3 +OMIM:602372 skos:exactMatch HGNC:12857 Unspecified ZAN +OMIM:602372 skos:exactMatch HGNC_symbol:ZAN Unspecified ZAN +OMIM:602372 skos:exactMatch UMLS:C1421566 Unspecified ZAN +OMIM:253300 skos:exactMatch UMLS:C0043116 Unspecified spinal muscular atrophy, iia 1 +OMIM:602373 skos:exactMatch HGNC:2156 Unspecified CNN2 +OMIM:602373 skos:exactMatch UMLS:C1413551 Unspecified CNN2 +OMIM:602373 skos:exactMatch HGNC_symbol:CNN2 Unspecified CNN2 +OMIM:602374 skos:exactMatch HGNC:2157 Unspecified CNN3 +OMIM:602374 skos:exactMatch UMLS:C1413552 Unspecified CNN3 +OMIM:602374 skos:exactMatch HGNC_symbol:CNN3 Unspecified CNN3 +OMIM:602375 skos:exactMatch HGNC_symbol:MRPL12 Unspecified MRPL12 +OMIM:602375 skos:exactMatch UMLS:C1419694 Unspecified MRPL12 +OMIM:602375 skos:exactMatch HGNC:10378 Unspecified MRPL12 +OMIM:602375 skos:exactMatch UMLS:C5436461 Unspecified MRPL12 +OMIM:602376 skos:exactMatch HGNC:5433 Unspecified IFNAR2 +OMIM:602376 skos:exactMatch UMLS:C4225252 Unspecified IFNAR2 +OMIM:602376 skos:exactMatch UMLS:C1334082 Unspecified IFNAR2 +OMIM:602376 skos:exactMatch HGNC_symbol:IFNAR2 Unspecified IFNAR2 +OMIM:602376 skos:exactMatch UMLS:C1864880 Unspecified IFNAR2 +OMIM:182230 skos:exactMatch UMLS:C0338503 Unspecified septooptic dysplasia +OMIM:182230 skos:exactMatch UMLS:C2750027 Unspecified septooptic dysplasia +OMIM:145290 skos:exactMatch UMLS:C0151889 Unspecified hyperreflexia +OMIM:204100 skos:exactMatch UMLS:C1859844 Unspecified leber congenital amaurosis 2 +OMIM:204110 skos:exactMatch UMLS:C1857588 Unspecified amaurosis congenita, cone-rod type, with congenital hypertrichosis +OMIM:216100 skos:exactMatch UMLS:C0796099 Unspecified juberg-hayward syndrome +OMIM:145295 skos:exactMatch UMLS:C1840387 Unspecified hypersecretion of adrenal androgens, familial +OMIM:206780 skos:exactMatch UMLS:C1290511 Unspecified anodontia of permanent dentition +OMIM:255700 skos:exactMatch UMLS:C0751360 Unspecified myotonia congenita, autosomal recessive +OMIM:182210 skos:exactMatch UMLS:C1866958 Unspecified shprintzen omphalocele syndrome +OMIM:182212 skos:exactMatch UMLS:C1321551 Unspecified shprintzen-goldberg craniosynostosis syndrome +OMIM:228100 skos:exactMatch UMLS:C0341447 Unspecified visceral steatosis, congenital +OMIM:170261 skos:exactMatch HGNC_symbol:TAP2 Unspecified TAP2 +OMIM:170261 skos:exactMatch UMLS:C1336576 Unspecified TAP2 +OMIM:170261 skos:exactMatch HGNC:44 Unspecified TAP2 +OMIM:170260 skos:exactMatch HGNC_symbol:TAP1 Unspecified TAP1 +OMIM:170260 skos:exactMatch UMLS:C1336575 Unspecified TAP1 +OMIM:170260 skos:exactMatch HGNC:43 Unspecified TAP1 +OMIM:182220 skos:exactMatch UMLS:C1866942 Unspecified sister chromatid exchange, frequency of +OMIM:243700 skos:exactMatch UMLS:C4722305 Unspecified hyper-ige recurrent infection syndrome 2, autosomal recessive +OMIM:170250 skos:exactMatch HGNC:18449 Unspecified LAP3 +OMIM:170250 skos:exactMatch HGNC_symbol:LAP3 Unspecified LAP3 +OMIM:170250 skos:exactMatch UMLS:C1425522 Unspecified LAP3 +OMIM:194200 skos:exactMatch UMLS:C0043202 Unspecified wolff-parkinson-white syndrome +OMIM:182279 skos:exactMatch HGNC:11164 Unspecified SNRPN +OMIM:182279 skos:exactMatch UMLS:C1420295 Unspecified SNRPN +OMIM:182279 skos:exactMatch UMLS:C1420299 Unspecified SNRPN +OMIM:182279 skos:exactMatch HGNC_symbol:SNRPN Unspecified SNRPN +OMIM:182270 skos:exactMatch UMLS:C1866938 Unspecified ketone compounds, ability to smell +OMIM:182271 skos:exactMatch UMLS:C1420381 Unspecified SPRR3 +OMIM:182271 skos:exactMatch HGNC_symbol:SPRR3 Unspecified SPRR3 +OMIM:182271 skos:exactMatch HGNC:11268 Unspecified SPRR3 +OMIM:170285 skos:exactMatch UMLS:C1826500 Unspecified NUP85 +OMIM:170285 skos:exactMatch HGNC_symbol:NUP85 Unspecified NUP85 +OMIM:170285 skos:exactMatch HGNC:8734 Unspecified NUP85 +OMIM:121270 skos:exactMatch UMLS:C1852576 Unspecified copper deficiency, familial benign +OMIM:218700 skos:exactMatch UMLS:C1869118 Unspecified hypothyroidism, congenital, nongoitrous, 2 +OMIM:218700 skos:exactMatch UMLS:C4722330 Unspecified hypothyroidism, congenital, nongoitrous, 2 +OMIM:170280 skos:exactMatch UMLS:C1418887 Unspecified PRF1 +OMIM:170280 skos:exactMatch HGNC_symbol:PRF1 Unspecified PRF1 +OMIM:170280 skos:exactMatch HGNC:9360 Unspecified PRF1 +OMIM:182285 skos:exactMatch UMLS:C1420283 Unspecified SNRPA +OMIM:182285 skos:exactMatch HGNC_symbol:SNRPA Unspecified SNRPA +OMIM:182285 skos:exactMatch HGNC:11151 Unspecified SNRPA +OMIM:182284 skos:exactMatch HGNC:10630 Unspecified CCL4 +OMIM:182284 skos:exactMatch UMLS:C1337091 Unspecified CCL4 +OMIM:182284 skos:exactMatch HGNC_symbol:CCL4 Unspecified CCL4 +OMIM:182281 skos:exactMatch HGNC:10609 Unspecified CCL1 +OMIM:182281 skos:exactMatch HGNC_symbol:CCL1 Unspecified CCL1 +OMIM:182281 skos:exactMatch UMLS:C1332683 Unspecified CCL1 +OMIM:182280 skos:exactMatch UMLS:C0149925 Unspecified small cell cancer of the lung +OMIM:182283 skos:exactMatch HGNC:10627 Unspecified CCL3 +OMIM:182283 skos:exactMatch HGNC_symbol:CCL3 Unspecified CCL3 +OMIM:182283 skos:exactMatch UMLS:C1332690 Unspecified CCL3 +OMIM:182282 skos:exactMatch UMLS:C1420285 Unspecified SNRPB +OMIM:182282 skos:exactMatch HGNC_symbol:SNRPB Unspecified SNRPB +OMIM:182282 skos:exactMatch HGNC:11153 Unspecified SNRPB +OMIM:170270 skos:exactMatch UMLS:C1456357 Unspecified PAM +OMIM:170270 skos:exactMatch HGNC:8596 Unspecified PAM +OMIM:170270 skos:exactMatch HGNC_symbol:PAM Unspecified PAM +OMIM:182255 skos:exactMatch UMLS:C1866939 Unspecified skeletal dysplasia with delayed epiphyseal and carpal bone ossification +OMIM:182257 skos:exactMatch HGNC:8947 Unspecified PI3 +OMIM:182257 skos:exactMatch HGNC_symbol:PI3 Unspecified PI3 +OMIM:182257 skos:exactMatch UMLS:C1418549 Unspecified PI3 +OMIM:182250 skos:exactMatch UMLS:C4225427 Unspecified singleton-merten syndrome 1 +OMIM:206750 skos:exactMatch UMLS:C1859782 Unspecified aniridia, partial, with unilateral renal agenesis and psychomotor retardation +OMIM:182265 skos:exactMatch HGNC:11259 Unspecified SPRR1A +OMIM:182265 skos:exactMatch UMLS:C1420372 Unspecified SPRR1A +OMIM:182265 skos:exactMatch HGNC_symbol:SPRR1A Unspecified SPRR1A +OMIM:182267 skos:exactMatch HGNC:11261 Unspecified SPRR2A +OMIM:182267 skos:exactMatch UMLS:C1420374 Unspecified SPRR2A +OMIM:182267 skos:exactMatch HGNC_symbol:SPRR2A Unspecified SPRR2A +OMIM:182266 skos:exactMatch HGNC:11260 Unspecified SPRR1B +OMIM:182266 skos:exactMatch UMLS:C1420373 Unspecified SPRR1B +OMIM:182266 skos:exactMatch HGNC_symbol:SPRR1B Unspecified SPRR1B +OMIM:182269 skos:exactMatch HGNC:11263 Unspecified small proline-rich protein 2c, pseudogene +OMIM:182269 skos:exactMatch UMLS:C1420376 Unspecified small proline-rich protein 2c, pseudogene +OMIM:182269 skos:exactMatch HGNC_symbol:SPRR2C Unspecified small proline-rich protein 2c, pseudogene +OMIM:182268 skos:exactMatch HGNC:11262 Unspecified SPRR2B +OMIM:182268 skos:exactMatch UMLS:C1420375 Unspecified SPRR2B +OMIM:182268 skos:exactMatch HGNC_symbol:SPRR2B Unspecified SPRR2B +OMIM:182260 skos:exactMatch UMLS:C0149887 Unspecified slipped femoral capital epiphyses +OMIM:170290 skos:exactMatch HGNC:9076 Unspecified PLIN1 +OMIM:170290 skos:exactMatch HGNC_symbol:PLIN1 Unspecified PLIN1 +OMIM:170290 skos:exactMatch UMLS:C1418649 Unspecified PLIN1 +OMIM:123890 skos:exactMatch UMLS:C1833450 Unspecified CTLA4 +OMIM:123890 skos:exactMatch UMLS:C3862275 Unspecified CTLA4 +OMIM:123890 skos:exactMatch HGNC_symbol:CTLA4 Unspecified CTLA4 +OMIM:123890 skos:exactMatch UMLS:C4015214 Unspecified CTLA4 +OMIM:123890 skos:exactMatch UMLS:C1857845 Unspecified CTLA4 +OMIM:123890 skos:exactMatch UMLS:C1332802 Unspecified CTLA4 +OMIM:123890 skos:exactMatch UMLS:C5436965 Unspecified CTLA4 +OMIM:123890 skos:exactMatch HGNC:2505 Unspecified CTLA4 +OMIM:123890 skos:exactMatch UMLS:C1852391 Unspecified CTLA4 +OMIM:123880 skos:exactMatch UMLS:C0029438 Unspecified cystic angiomatosis of bone, diffuse +OMIM:123889 skos:exactMatch HGNC_symbol:IL10RB Unspecified IL10RB +OMIM:123889 skos:exactMatch UMLS:C1334097 Unspecified IL10RB +OMIM:123889 skos:exactMatch HGNC:5965 Unspecified IL10RB +OMIM:123886 skos:exactMatch HGNC_symbol:S100A9 Unspecified S100A9 +OMIM:123886 skos:exactMatch UMLS:C1335798 Unspecified S100A9 +OMIM:123886 skos:exactMatch HGNC:10499 Unspecified S100A9 +OMIM:123885 skos:exactMatch UMLS:C1366582 Unspecified S100A8 +OMIM:123885 skos:exactMatch HGNC:10498 Unspecified S100A8 +OMIM:123885 skos:exactMatch HGNC_symbol:S100A8 Unspecified S100A8 +OMIM:182290 skos:exactMatch UMLS:C1866927 Unspecified smith-magenis syndrome +OMIM:182290 skos:exactMatch UMLS:C0795864 Unspecified smith-magenis syndrome +OMIM:206700 skos:exactMatch UMLS:C0431401 Unspecified gillespie syndrome +OMIM:123870 skos:exactMatch UMLS:C1413661 Unspecified COX8A +OMIM:123870 skos:exactMatch HGNC_symbol:COX8A Unspecified COX8A +OMIM:123870 skos:exactMatch UMLS:C5436712 Unspecified COX8A +OMIM:123870 skos:exactMatch HGNC:2294 Unspecified COX8A +OMIM:121210 skos:exactMatch UMLS:C1852577 Unspecified febrile seizures, familial, 1 +OMIM:516006 skos:exactMatch HGNC:7462 Unspecified MTND6 +OMIM:516006 skos:exactMatch HGNC_symbol:MT-ND6 Unspecified MTND6 +OMIM:516006 skos:exactMatch UMLS:C1537995 Unspecified MTND6 +OMIM:516005 skos:exactMatch HGNC:7461 Unspecified MTND5 +OMIM:516005 skos:exactMatch HGNC_symbol:MT-ND5 Unspecified MTND5 +OMIM:516005 skos:exactMatch UMLS:C1537994 Unspecified MTND5 +OMIM:123875 skos:exactMatch HGNC:2360 Unspecified CRIP1 +OMIM:123875 skos:exactMatch UMLS:C1413712 Unspecified CRIP1 +OMIM:123875 skos:exactMatch HGNC_symbol:CRIP1 Unspecified CRIP1 +OMIM:123876 skos:exactMatch HGNC_symbol:CSRP1 Unspecified CSRP1 +OMIM:123876 skos:exactMatch HGNC:2469 Unspecified CSRP1 +OMIM:123876 skos:exactMatch UMLS:C1413766 Unspecified CSRP1 +OMIM:516000 skos:exactMatch HGNC:7455 Unspecified MTND1 +OMIM:516000 skos:exactMatch HGNC_symbol:MT-ND1 Unspecified MTND1 +OMIM:516000 skos:exactMatch UMLS:C1537989 Unspecified MTND1 +OMIM:516000 skos:exactMatch UMLS:C4722145 Unspecified MTND1 +OMIM:516004 skos:exactMatch HGNC:7460 Unspecified MTND4L +OMIM:516004 skos:exactMatch HGNC_symbol:MT-ND4L Unspecified MTND4L +OMIM:516004 skos:exactMatch UMLS:C1537993 Unspecified MTND4L +OMIM:516003 skos:exactMatch HGNC:7459 Unspecified MTND4 +OMIM:516003 skos:exactMatch HGNC_symbol:MT-ND4 Unspecified MTND4 +OMIM:516003 skos:exactMatch UMLS:C1537992 Unspecified MTND4 +OMIM:516002 skos:exactMatch HGNC:7458 Unspecified MTND3 +OMIM:516002 skos:exactMatch HGNC_symbol:MT-ND3 Unspecified MTND3 +OMIM:516002 skos:exactMatch UMLS:C1537991 Unspecified MTND3 +OMIM:516001 skos:exactMatch HGNC:7456 Unspecified MTND2 +OMIM:516001 skos:exactMatch HGNC_symbol:MT-ND2 Unspecified MTND2 +OMIM:516001 skos:exactMatch UMLS:C1537990 Unspecified MTND2 +OMIM:123860 skos:exactMatch HGNC:2519 Unspecified CTPS1 +OMIM:123860 skos:exactMatch UMLS:C1413804 Unspecified CTPS1 +OMIM:123860 skos:exactMatch HGNC_symbol:CTPS1 Unspecified CTPS1 +OMIM:121200 skos:exactMatch ORPHA:1949 Unspecified seizures, benign familial neonatal, 1 +OMIM:121200 skos:exactMatch UMLS:C3149074 Unspecified seizures, benign familial neonatal, 1 +OMIM:123864 skos:exactMatch UMLS:C5436714 Unspecified COX4I1 +OMIM:123864 skos:exactMatch HGNC:2265 Unspecified COX4I1 +OMIM:123864 skos:exactMatch HGNC_symbol:COX4I1 Unspecified COX4I1 +OMIM:123864 skos:exactMatch UMLS:C1413634 Unspecified COX4I1 +OMIM:121201 skos:exactMatch UMLS:C1852581 Unspecified seizures, benign familial neonatal, 2 +OMIM:123866 skos:exactMatch HGNC:2269 Unspecified COX5B +OMIM:123866 skos:exactMatch UMLS:C1413638 Unspecified COX5B +OMIM:123866 skos:exactMatch HGNC_symbol:COX5B Unspecified COX5B +OMIM:123857 skos:exactMatch HGNC:2476 Unspecified CST4 +OMIM:123857 skos:exactMatch UMLS:C1413773 Unspecified CST4 +OMIM:123857 skos:exactMatch HGNC_symbol:CST4 Unspecified CST4 +OMIM:123856 skos:exactMatch HGNC:2474 Unspecified CST2 +OMIM:123856 skos:exactMatch UMLS:C1413771 Unspecified CST2 +OMIM:123856 skos:exactMatch HGNC_symbol:CST2 Unspecified CST2 +OMIM:123859 skos:exactMatch HGNC_symbol:CARS1 Unspecified CARS1 +OMIM:123859 skos:exactMatch HGNC:1493 Unspecified CARS1 +OMIM:123859 skos:exactMatch UMLS:C1413126 Unspecified CARS1 +OMIM:123859 skos:exactMatch UMLS:C5394425 Unspecified CARS1 +OMIM:123858 skos:exactMatch HGNC_symbol:CST5 Unspecified CST5 +OMIM:123858 skos:exactMatch HGNC:2477 Unspecified CST5 +OMIM:123858 skos:exactMatch UMLS:C1413774 Unspecified CST5 +OMIM:123853 skos:exactMatch UMLS:C1852396 Unspecified cyprus facial neuromusculoskeletal syndrome +OMIM:123855 skos:exactMatch HGNC:2473 Unspecified CST1 +OMIM:123855 skos:exactMatch UMLS:C1413770 Unspecified CST1 +OMIM:123855 skos:exactMatch HGNC_symbol:CST1 Unspecified CST1 +OMIM:123840 skos:exactMatch UMLS:C1418793 Unspecified PPIA +OMIM:123840 skos:exactMatch HGNC_symbol:PPIA Unspecified PPIA +OMIM:123840 skos:exactMatch HGNC:9253 Unspecified PPIA +OMIM:123842 skos:exactMatch UMLS:C1418796 Unspecified PPIC +OMIM:123842 skos:exactMatch HGNC_symbol:PPIC Unspecified PPIC +OMIM:123842 skos:exactMatch HGNC:9256 Unspecified PPIC +OMIM:123841 skos:exactMatch UMLS:C1418795 Unspecified PPIB +OMIM:123841 skos:exactMatch HGNC_symbol:PPIB Unspecified PPIB +OMIM:123841 skos:exactMatch HGNC:9255 Unspecified PPIB +OMIM:108200 skos:exactMatch UMLS:C1862471 Unspecified arthrogryposis, distal, iia 6 +OMIM:123838 skos:exactMatch HGNC_symbol:CCNC Unspecified CCNC +OMIM:123838 skos:exactMatch HGNC:1581 Unspecified CCNC +OMIM:123838 skos:exactMatch UMLS:C1413171 Unspecified CCNC +OMIM:135900 skos:exactMatch UMLS:C0265338 Unspecified coffin-siris syndrome 1 +OMIM:135900 skos:exactMatch ORPHA:1465 Unspecified coffin-siris syndrome 1 +OMIM:135900 skos:exactMatch UMLS:C3281201 Unspecified coffin-siris syndrome 1 +OMIM:123835 skos:exactMatch HGNC_symbol:CCNA2 Unspecified CCNA2 +OMIM:123835 skos:exactMatch UMLS:C1332694 Unspecified CCNA2 +OMIM:123835 skos:exactMatch HGNC:1578 Unspecified CCNA2 +OMIM:123834 skos:exactMatch HGNC_symbol:CCND3 Unspecified CCND3 +OMIM:123834 skos:exactMatch HGNC:1585 Unspecified CCND3 +OMIM:123834 skos:exactMatch UMLS:C1413175 Unspecified CCND3 +OMIM:123837 skos:exactMatch HGNC_symbol:CCNE1 Unspecified CCNE1 +OMIM:123837 skos:exactMatch UMLS:C1332697 Unspecified CCNE1 +OMIM:123837 skos:exactMatch HGNC:1589 Unspecified CCNE1 +OMIM:123836 skos:exactMatch UMLS:C1332695 Unspecified CCNB1 +OMIM:123836 skos:exactMatch HGNC_symbol:CCNB1 Unspecified CCNB1 +OMIM:123836 skos:exactMatch HGNC:1579 Unspecified CCNB1 +OMIM:123831 skos:exactMatch UMLS:C1332735 Unspecified CDK5 +OMIM:123831 skos:exactMatch HGNC_symbol:CDK5 Unspecified CDK5 +OMIM:123831 skos:exactMatch HGNC:1774 Unspecified CDK5 +OMIM:123830 skos:exactMatch UMLS:C5436730 Unspecified CNP +OMIM:123830 skos:exactMatch HGNC:2158 Unspecified CNP +OMIM:123830 skos:exactMatch HGNC_symbol:CNP Unspecified CNP +OMIM:123830 skos:exactMatch UMLS:C1413553 Unspecified CNP +OMIM:123833 skos:exactMatch HGNC_symbol:CCND2 Unspecified CCND2 +OMIM:123833 skos:exactMatch UMLS:C4014742 Unspecified CCND2 +OMIM:123833 skos:exactMatch HGNC:1583 Unspecified CCND2 +OMIM:123833 skos:exactMatch UMLS:C1413173 Unspecified CCND2 +OMIM:123832 skos:exactMatch HGNC_symbol:CDKN3 Unspecified CDKN3 +OMIM:123832 skos:exactMatch UMLS:C1332739 Unspecified CDKN3 +OMIM:123832 skos:exactMatch HGNC:1791 Unspecified CDKN3 +OMIM:123828 skos:exactMatch HGNC:1772 Unspecified CDK3 +OMIM:123828 skos:exactMatch UMLS:C1332734 Unspecified CDK3 +OMIM:123828 skos:exactMatch HGNC_symbol:CDK3 Unspecified CDK3 +OMIM:123829 skos:exactMatch HGNC:1773 Unspecified CDK4 +OMIM:123829 skos:exactMatch UMLS:C0694873 Unspecified CDK4 +OMIM:123829 skos:exactMatch HGNC_symbol:CDK4 Unspecified CDK4 +OMIM:123825 skos:exactMatch UMLS:C1413543 Unspecified CNGA1 +OMIM:123825 skos:exactMatch HGNC:2148 Unspecified CNGA1 +OMIM:123825 skos:exactMatch HGNC_symbol:CNGA1 Unspecified CNGA1 +OMIM:300032 skos:exactMatch HGNC_symbol:ATRX Unspecified ATRX +OMIM:300032 skos:exactMatch HGNC:886 Unspecified ATRX +OMIM:300032 skos:exactMatch UMLS:C1412697 Unspecified ATRX +OMIM:300031 skos:exactMatch HGNC:17125 Unspecified FAM11A +OMIM:300031 skos:exactMatch HGNC_symbol:TMEM185A Unspecified FAM11A +OMIM:300031 skos:exactMatch UMLS:C1424761 Unspecified FAM11A +OMIM:300034 skos:exactMatch HGNC_symbol:AGTR2 Unspecified AGTR2 +OMIM:300034 skos:exactMatch HGNC:338 Unspecified AGTR2 +OMIM:300034 skos:exactMatch UMLS:C1332036 Unspecified AGTR2 +OMIM:300033 skos:exactMatch HGNC:7139 Unspecified FOXO4 +OMIM:300033 skos:exactMatch UMLS:C1334518 Unspecified FOXO4 +OMIM:300033 skos:exactMatch HGNC_symbol:FOXO4 Unspecified FOXO4 +OMIM:108300 skos:exactMatch UMLS:C2020284 Unspecified stickler syndrome, iia 1 +OMIM:300036 skos:exactMatch HGNC:11055 Unspecified SLC6A8 +OMIM:300036 skos:exactMatch UMLS:C1845862 Unspecified SLC6A8 +OMIM:300036 skos:exactMatch UMLS:C1420219 Unspecified SLC6A8 +OMIM:300036 skos:exactMatch HGNC_symbol:SLC6A8 Unspecified SLC6A8 +OMIM:300035 skos:exactMatch HGNC:3226 Unspecified EFNB1 +OMIM:300035 skos:exactMatch HGNC_symbol:EFNB1 Unspecified EFNB1 +OMIM:300035 skos:exactMatch UMLS:C1414305 Unspecified EFNB1 +OMIM:300038 skos:exactMatch UMLS:C1418220 Unspecified P2RY4 +OMIM:300038 skos:exactMatch HGNC_symbol:P2RY4 Unspecified P2RY4 +OMIM:300038 skos:exactMatch HGNC:8542 Unspecified P2RY4 +OMIM:300037 skos:exactMatch UMLS:C4016454 Unspecified GPC3 +OMIM:300037 skos:exactMatch HGNC:4451 Unspecified GPC3 +OMIM:300037 skos:exactMatch HGNC_symbol:GPC3 Unspecified GPC3 +OMIM:300037 skos:exactMatch UMLS:C1415195 Unspecified GPC3 +OMIM:300037 skos:exactMatch UMLS:C0796154 Unspecified GPC3 +OMIM:300039 skos:exactMatch HGNC_symbol:POU3F4 Unspecified POU3F4 +OMIM:300039 skos:exactMatch UMLS:C1418764 Unspecified POU3F4 +OMIM:300039 skos:exactMatch HGNC:9217 Unspecified POU3F4 +OMIM:135800 skos:exactMatch UMLS:C1851099 Unspecified fibula, recurrent dislocation of head of +OMIM:516070 skos:exactMatch UMLS:C3275686 Unspecified MTATP8 +OMIM:516070 skos:exactMatch UMLS:C3275685 Unspecified MTATP8 +OMIM:516070 skos:exactMatch UMLS:C3888025 Unspecified MTATP8 +OMIM:516070 skos:exactMatch HGNC:7415 Unspecified MTATP8 +OMIM:516070 skos:exactMatch HGNC_symbol:MT-ATP8 Unspecified MTATP8 +OMIM:516070 skos:exactMatch UMLS:C1537984 Unspecified MTATP8 +OMIM:123930 skos:exactMatch HGNC:2615 Unspecified CYP2B6 +OMIM:123930 skos:exactMatch HGNC_symbol:CYP2B6 Unspecified CYP2B6 +OMIM:123930 skos:exactMatch UMLS:C1382176 Unspecified CYP2B6 +OMIM:300041 skos:exactMatch HGNC:4691 Unspecified GUCY2F +OMIM:300041 skos:exactMatch UMLS:C1415366 Unspecified GUCY2F +OMIM:300041 skos:exactMatch HGNC_symbol:GUCY2F Unspecified GUCY2F +OMIM:300040 skos:exactMatch HGNC_symbol:SMC1A Unspecified SMC1A +OMIM:300040 skos:exactMatch UMLS:C1822777 Unspecified SMC1A +OMIM:300040 skos:exactMatch UMLS:C5394561 Unspecified SMC1A +OMIM:300040 skos:exactMatch UMLS:C5394560 Unspecified SMC1A +OMIM:300040 skos:exactMatch HGNC:11111 Unspecified SMC1A +OMIM:300040 skos:exactMatch UMLS:C5393312 Unspecified SMC1A +OMIM:300040 skos:exactMatch UMLS:C1802395 Unspecified SMC1A +OMIM:300042 skos:exactMatch UMLS:C0265992 Unspecified alopecia, congenital +OMIM:300044 skos:exactMatch HGNC:11835 Unspecified TKTL1 +OMIM:300044 skos:exactMatch UMLS:C1420751 Unspecified TKTL1 +OMIM:300044 skos:exactMatch HGNC_symbol:TKTL1 Unspecified TKTL1 +OMIM:300047 skos:exactMatch UMLS:C0796226 Unspecified intellectual developmental disorder, X-linked 20 +OMIM:300046 skos:exactMatch UMLS:C0796229 Unspecified intellectual developmental disorder, X-linked 23 +OMIM:300049 skos:exactMatch ORPHA:98892 Unspecified periventricular nodular heterotopia 1 +OMIM:300049 skos:exactMatch UMLS:C1848213 Unspecified periventricular nodular heterotopia 1 +OMIM:300049 skos:exactMatch ORPHA:2149 Unspecified periventricular nodular heterotopia 1 +OMIM:300049 skos:exactMatch UMLS:C4551969 Unspecified periventricular nodular heterotopia 1 +OMIM:300049 skos:exactMatch UMLS:C1845235 Unspecified periventricular nodular heterotopia 1 +OMIM:300048 skos:exactMatch UMLS:C2746068 Unspecified intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +OMIM:300048 skos:exactMatch UMLS:C3806579 Unspecified intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked +OMIM:314690 skos:exactMatch UMLS:C1539790 Unspecified KDM5C +OMIM:314690 skos:exactMatch HGNC:11114 Unspecified KDM5C +OMIM:314690 skos:exactMatch HGNC_symbol:KDM5C Unspecified KDM5C +OMIM:516060 skos:exactMatch HGNC:7414 Unspecified MTATP6 +OMIM:516060 skos:exactMatch HGNC_symbol:MT-ATP6 Unspecified MTATP6 +OMIM:516060 skos:exactMatch UMLS:C1537983 Unspecified MTATP6 +OMIM:553000 skos:exactMatch UMLS:C1510502 Unspecified oncocytoma +OMIM:300050 skos:exactMatch HGNC_symbol:USP11 Unspecified USP11 +OMIM:300050 skos:exactMatch HGNC:12609 Unspecified USP11 +OMIM:300050 skos:exactMatch UMLS:C1421388 Unspecified USP11 +OMIM:300052 skos:exactMatch UMLS:C1414154 Unspecified DRP2 +OMIM:300052 skos:exactMatch HGNC_symbol:DRP2 Unspecified DRP2 +OMIM:300052 skos:exactMatch HGNC:3032 Unspecified DRP2 +OMIM:300051 skos:exactMatch UMLS:C1415204 Unspecified GPM6B +OMIM:300051 skos:exactMatch HGNC_symbol:GPM6B Unspecified GPM6B +OMIM:300051 skos:exactMatch HGNC:4461 Unspecified GPM6B +OMIM:123920 skos:exactMatch HGNC:1712 Unspecified CDA +OMIM:123920 skos:exactMatch UMLS:C1413247 Unspecified CDA +OMIM:123920 skos:exactMatch HGNC_symbol:CDA Unspecified CDA +OMIM:300010 skos:exactMatch UMLS:C1848335 Unspecified A11 +OMIM:300012 skos:exactMatch HGNC:11097 Unspecified SMARCA1 +OMIM:300012 skos:exactMatch HGNC_symbol:SMARCA1 Unspecified SMARCA1 +OMIM:300012 skos:exactMatch UMLS:C1335840 Unspecified SMARCA1 +OMIM:300011 skos:exactMatch UMLS:C1412688 Unspecified ATP7A +OMIM:300011 skos:exactMatch UMLS:C1845359 Unspecified ATP7A +OMIM:300011 skos:exactMatch UMLS:C4016446 Unspecified ATP7A +OMIM:300011 skos:exactMatch UMLS:C4016447 Unspecified ATP7A +OMIM:300011 skos:exactMatch HGNC:869 Unspecified ATP7A +OMIM:300011 skos:exactMatch HGNC_symbol:ATP7A Unspecified ATP7A +OMIM:300011 skos:exactMatch UMLS:C0022716 Unspecified ATP7A +OMIM:300011 skos:exactMatch UMLS:C0268353 Unspecified ATP7A +OMIM:300014 skos:exactMatch UMLS:C1412642 Unspecified ATP2B3 +OMIM:300014 skos:exactMatch HGNC_symbol:ATP2B3 Unspecified ATP2B3 +OMIM:300014 skos:exactMatch HGNC:816 Unspecified ATP2B3 +OMIM:300013 skos:exactMatch HGNC_symbol:NAA10 Unspecified NAA10 +OMIM:300013 skos:exactMatch UMLS:C1538918 Unspecified NAA10 +OMIM:300013 skos:exactMatch HGNC:18704 Unspecified NAA10 +OMIM:300013 skos:exactMatch UMLS:C3275447 Unspecified NAA10 +OMIM:300013 skos:exactMatch UMLS:C0796016 Unspecified NAA10 +OMIM:300016 skos:exactMatch HGNC_symbol:MAGEA1 Unspecified MAGEA1 +OMIM:300016 skos:exactMatch HGNC:6796 Unspecified MAGEA1 +OMIM:300016 skos:exactMatch UMLS:C1416970 Unspecified MAGEA1 +OMIM:300015 skos:exactMatch HGNC_symbol:ASMT Unspecified ASMT +OMIM:300015 skos:exactMatch HGNC:750 Unspecified ASMT +OMIM:300015 skos:exactMatch UMLS:C1848322 Unspecified ASMT +OMIM:300018 skos:exactMatch UMLS:C1848296 Unspecified 46,xy sex reversal 2 +OMIM:300017 skos:exactMatch UMLS:C1846129 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C3806579 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C4016451 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C1845902 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C0265251 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C0025237 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C1844696 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C4225601 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C4225602 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C2748918 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C2746068 Unspecified FLNA +OMIM:300017 skos:exactMatch HGNC_symbol:FLNA Unspecified FLNA +OMIM:300017 skos:exactMatch HGNC:3754 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C0262436 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C1848213 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C4281559 Unspecified FLNA +OMIM:300017 skos:exactMatch UMLS:C1414635 Unspecified FLNA +OMIM:300019 skos:exactMatch UMLS:C0796208 Unspecified HCFC1 +OMIM:300019 skos:exactMatch HGNC:4839 Unspecified HCFC1 +OMIM:300019 skos:exactMatch HGNC_symbol:HCFC1 Unspecified HCFC1 +OMIM:300019 skos:exactMatch UMLS:C1415493 Unspecified HCFC1 +OMIM:135820 skos:exactMatch HGNC_symbol:FBLN1 Unspecified FBLN1 +OMIM:135820 skos:exactMatch HGNC:3600 Unspecified FBLN1 +OMIM:135820 skos:exactMatch UMLS:C1414539 Unspecified FBLN1 +OMIM:135821 skos:exactMatch HGNC_symbol:FBLN2 Unspecified FBLN2 +OMIM:135821 skos:exactMatch HGNC:3601 Unspecified FBLN2 +OMIM:135821 skos:exactMatch UMLS:C1414540 Unspecified FBLN2 +OMIM:147800 skos:exactMatch UMLS:C0220686 Unspecified aase-smith syndrome 1 +OMIM:241080 skos:exactMatch UMLS:C0342286 Unspecified woodhouse-sakati syndrome +OMIM:265050 skos:exactMatch UMLS:C0796279 Unspecified 3mc syndrome 2 +OMIM:123910 skos:exactMatch UMLS:C1415380 Unspecified GZMB +OMIM:123910 skos:exactMatch HGNC_symbol:GZMB Unspecified GZMB +OMIM:123910 skos:exactMatch HGNC:4709 Unspecified GZMB +OMIM:300023 skos:exactMatch HGNC:674 Unspecified ARHGAP4 +OMIM:300023 skos:exactMatch HGNC_symbol:ARHGAP4 Unspecified ARHGAP4 +OMIM:300023 skos:exactMatch UMLS:C1412521 Unspecified ARHGAP4 +OMIM:300022 skos:exactMatch UMLS:C1418662 Unspecified PLXNA3 +OMIM:300022 skos:exactMatch HGNC_symbol:PLXNA3 Unspecified PLXNA3 +OMIM:300022 skos:exactMatch HGNC:9101 Unspecified PLXNA3 +OMIM:300025 skos:exactMatch HGNC_symbol:CDX4 Unspecified CDX4 +OMIM:300025 skos:exactMatch HGNC:1808 Unspecified CDX4 +OMIM:300025 skos:exactMatch UMLS:C1413302 Unspecified CDX4 +OMIM:300024 skos:exactMatch HGNC:12942 Unspecified ZNF157 +OMIM:300024 skos:exactMatch HGNC_symbol:ZNF157 Unspecified ZNF157 +OMIM:300024 skos:exactMatch UMLS:C1421644 Unspecified ZNF157 +OMIM:300027 skos:exactMatch UMLS:C1419299 Unspecified RBM3 +OMIM:300027 skos:exactMatch HGNC_symbol:RBM3 Unspecified RBM3 +OMIM:300027 skos:exactMatch HGNC:9900 Unspecified RBM3 +OMIM:300026 skos:exactMatch HGNC:7638 Unspecified NAP1L2 +OMIM:300026 skos:exactMatch UMLS:C1417596 Unspecified NAP1L2 +OMIM:300026 skos:exactMatch HGNC_symbol:NAP1L2 Unspecified NAP1L2 +OMIM:300029 skos:exactMatch UMLS:C1845667 Unspecified retinitis pigmentosa 3 +OMIM:300028 skos:exactMatch HGNC:23019 Unspecified ZRSR2 +OMIM:300028 skos:exactMatch UMLS:C1824082 Unspecified ZRSR2 +OMIM:300028 skos:exactMatch HGNC_symbol:ZRSR2 Unspecified ZRSR2 +OMIM:314670 skos:exactMatch HGNC_symbol:XIST Unspecified XIST +OMIM:314670 skos:exactMatch UMLS:C1421536 Unspecified XIST +OMIM:314670 skos:exactMatch UMLS:C1848138 Unspecified XIST +OMIM:314670 skos:exactMatch HGNC:12810 Unspecified XIST +OMIM:312000 skos:exactMatch UMLS:C0342376 Unspecified panhypopituitarism, X-linked +OMIM:241090 skos:exactMatch UMLS:C2673480 Unspecified hypergonadotropic hypogonadism and partial alopecia +OMIM:123900 skos:exactMatch HGNC_symbol:EZR Unspecified EZR +OMIM:123900 skos:exactMatch HGNC:12691 Unspecified EZR +OMIM:123900 skos:exactMatch UMLS:C1421450 Unspecified EZR +OMIM:147811 skos:exactMatch HGNC_symbol:IL1R2 Unspecified IL1R2 +OMIM:147811 skos:exactMatch HGNC:5994 Unspecified IL1R2 +OMIM:147811 skos:exactMatch UMLS:C1416396 Unspecified IL1R2 +OMIM:147810 skos:exactMatch HGNC_symbol:IL1R1 Unspecified IL1R1 +OMIM:147810 skos:exactMatch HGNC:5993 Unspecified IL1R1 +OMIM:147810 skos:exactMatch UMLS:C1416395 Unspecified IL1R1 +OMIM:300030 skos:exactMatch UMLS:C3888089 Unspecified deafness, X-linked 3 +OMIM:590000 skos:exactMatch HGNC:7475 Unspecified MTTA +OMIM:590000 skos:exactMatch HGNC_symbol:MT-TA Unspecified MTTA +OMIM:590000 skos:exactMatch UMLS:C1537998 Unspecified MTTA +OMIM:300076 skos:exactMatch UMLS:C1848144 Unspecified immunoneurologic disorder, X-linked +OMIM:602432 skos:exactMatch HGNC:17142 Unspecified OPTN +OMIM:602432 skos:exactMatch HGNC_symbol:OPTN Unspecified OPTN +OMIM:602432 skos:exactMatch UMLS:C1424774 Unspecified OPTN +OMIM:300075 skos:exactMatch HGNC_symbol:RPS6KA3 Unspecified RPS6KA3 +OMIM:300075 skos:exactMatch UMLS:C0796225 Unspecified RPS6KA3 +OMIM:300075 skos:exactMatch UMLS:C4016455 Unspecified RPS6KA3 +OMIM:300075 skos:exactMatch UMLS:C0265252 Unspecified RPS6KA3 +OMIM:300075 skos:exactMatch UMLS:C1419744 Unspecified RPS6KA3 +OMIM:300075 skos:exactMatch HGNC:10432 Unspecified RPS6KA3 +OMIM:602433 skos:exactMatch UMLS:C1865409 Unspecified amyotrophic lateral sclerosis 4, juvenile +OMIM:300078 skos:exactMatch HGNC_symbol:NDUFA1 Unspecified NDUFA1 +OMIM:300078 skos:exactMatch HGNC:7683 Unspecified NDUFA1 +OMIM:300078 skos:exactMatch UMLS:C1417620 Unspecified NDUFA1 +OMIM:602434 skos:exactMatch HGNC_symbol:AUP1 Unspecified AUP1 +OMIM:602434 skos:exactMatch HGNC:891 Unspecified AUP1 +OMIM:602434 skos:exactMatch UMLS:C1412699 Unspecified AUP1 +OMIM:516030 skos:exactMatch UMLS:C1537985 Unspecified MTCO1 +OMIM:516030 skos:exactMatch HGNC_symbol:MT-CO1 Unspecified MTCO1 +OMIM:516030 skos:exactMatch HGNC:7419 Unspecified MTCO1 +OMIM:602435 skos:exactMatch UMLS:C1418798 Unspecified PPIE +OMIM:602435 skos:exactMatch HGNC_symbol:PPIE Unspecified PPIE +OMIM:602435 skos:exactMatch HGNC:9258 Unspecified PPIE +OMIM:602436 skos:exactMatch UMLS:C1417163 Unspecified MICB +OMIM:602436 skos:exactMatch HGNC_symbol:MICB Unspecified MICB +OMIM:602436 skos:exactMatch HGNC:7091 Unspecified MICB +OMIM:300079 skos:exactMatch UMLS:C1337109 Unspecified XIAP +OMIM:300079 skos:exactMatch HGNC:592 Unspecified XIAP +OMIM:300079 skos:exactMatch HGNC_symbol:XIAP Unspecified XIAP +OMIM:602437 skos:exactMatch HGNC_symbol:GCHFR Unspecified GCHFR +OMIM:602437 skos:exactMatch UMLS:C1415013 Unspecified GCHFR +OMIM:602437 skos:exactMatch HGNC:4194 Unspecified GCHFR +OMIM:602438 skos:exactMatch HGNC_symbol:HSF4 Unspecified HSF4 +OMIM:602438 skos:exactMatch UMLS:C1415752 Unspecified HSF4 +OMIM:602438 skos:exactMatch HGNC:5227 Unspecified HSF4 +OMIM:614419 skos:exactMatch UMLS:C3280741 Unspecified aspartate aminotransferase, serum level of, quantitative trait locus 1 +OMIM:590005 skos:exactMatch HGNC:7496 Unspecified MTTR +OMIM:590005 skos:exactMatch UMLS:C1538012 Unspecified MTTR +OMIM:590005 skos:exactMatch HGNC_symbol:MT-TR Unspecified MTTR +OMIM:614418 skos:exactMatch UMLS:C3280734 Unspecified febrile seizures, familial, 11 +OMIM:614417 skos:exactMatch UMLS:C3280730 Unspecified epilepsy, familial temporal lobe, 5 +OMIM:614416 skos:exactMatch UMLS:C3280729 Unspecified radiohumeral fusions with other skeletal and craniofacial anomalies +OMIM:312060 skos:exactMatch UMLS:C1839454 Unspecified properdin deficiency, X-linked +OMIM:312060 skos:exactMatch UMLS:C1839455 Unspecified properdin deficiency, X-linked +OMIM:312060 skos:exactMatch UMLS:C1839456 Unspecified properdin deficiency, X-linked +OMIM:614415 skos:exactMatch UMLS:C3280721 Unspecified chilblain lupus 2 +OMIM:614414 skos:exactMatch UMLS:C3888337 Unspecified deafness, autosomal recessive 96 +OMIM:614413 skos:exactMatch UMLS:C1540184 Unspecified ACY3 +OMIM:614413 skos:exactMatch HGNC_symbol:ACY3 Unspecified ACY3 +OMIM:614413 skos:exactMatch HGNC:24104 Unspecified ACY3 +OMIM:614412 skos:exactMatch UMLS:C2828843 Unspecified TOPAZ1 +OMIM:614412 skos:exactMatch HGNC_symbol:TOPAZ1 Unspecified TOPAZ1 +OMIM:614412 skos:exactMatch HGNC:24746 Unspecified TOPAZ1 +OMIM:614411 skos:exactMatch UMLS:C3553098 Unspecified glycerol quantitative trait locus +OMIM:614411 skos:exactMatch UMLS:C3280715 Unspecified glycerol quantitative trait locus +OMIM:277000 skos:exactMatch UMLS:C2674045 Unspecified mayer-rokitansky-kuster-hauser syndrome +OMIM:277000 skos:exactMatch UMLS:C1698581 Unspecified mayer-rokitansky-kuster-hauser syndrome +OMIM:614420 skos:exactMatch ORPHA:300345 Unspecified systemic lupus erythematosus 16 +OMIM:614420 skos:exactMatch UMLS:C3280742 Unspecified systemic lupus erythematosus 16 +OMIM:147820 skos:exactMatch UMLS:C1840073 Unspecified internal carotid artery, spontaneous dissection of +OMIM:300081 skos:exactMatch HGNC_symbol:DNASE1L1 Unspecified DNASE1L1 +OMIM:300081 skos:exactMatch UMLS:C1414108 Unspecified DNASE1L1 +OMIM:300081 skos:exactMatch HGNC:2957 Unspecified DNASE1L1 +OMIM:300080 skos:exactMatch UMLS:C1419296 Unspecified RBM10 +OMIM:300080 skos:exactMatch UMLS:C1839463 Unspecified RBM10 +OMIM:300080 skos:exactMatch HGNC_symbol:RBM10 Unspecified RBM10 +OMIM:300080 skos:exactMatch HGNC:9896 Unspecified RBM10 +OMIM:300083 skos:exactMatch UMLS:C1418934 Unspecified PRKX +OMIM:300083 skos:exactMatch HGNC_symbol:PRKX Unspecified PRKX +OMIM:300083 skos:exactMatch HGNC:9441 Unspecified PRKX +OMIM:300082 skos:exactMatch UMLS:C1848140 Unspecified cognitive function 1, social +OMIM:602440 skos:exactMatch UMLS:C1865384 Unspecified amyotrophy, monomelic +OMIM:602441 skos:exactMatch HGNC_symbol:CISH Unspecified CISH +OMIM:602441 skos:exactMatch HGNC:1984 Unspecified CISH +OMIM:602441 skos:exactMatch UMLS:C1332762 Unspecified CISH +OMIM:300085 skos:exactMatch UMLS:C1848139 Unspecified cone-rod dystrophy, x-linked, 2 +OMIM:160800 skos:exactMatch UMLS:C2936781 Unspecified myotonia congenita, autosomal dominant +OMIM:160800 skos:exactMatch UMLS:C0270959 Unspecified myotonia congenita, autosomal dominant +OMIM:602442 skos:exactMatch UMLS:C1416520 Unspecified ITSN1 +OMIM:602442 skos:exactMatch HGNC:6183 Unspecified ITSN1 +OMIM:602442 skos:exactMatch HGNC_symbol:ITSN1 Unspecified ITSN1 +OMIM:300084 skos:exactMatch HGNC:7871 Unspecified NONO +OMIM:300084 skos:exactMatch UMLS:C3279505 Unspecified NONO +OMIM:300084 skos:exactMatch UMLS:C1417758 Unspecified NONO +OMIM:300084 skos:exactMatch HGNC_symbol:NONO Unspecified NONO +OMIM:602421 skos:exactMatch HGNC_symbol:CFTR Unspecified CFTR +OMIM:602421 skos:exactMatch HGNC:1884 Unspecified CFTR +OMIM:602421 skos:exactMatch UMLS:C1413365 Unspecified CFTR +OMIM:300087 skos:exactMatch UMLS:C1848138 Unspecified x inactivation, familial skewed, 1 +OMIM:300086 skos:exactMatch HGNC_symbol:LPAR4 Unspecified LPAR4 +OMIM:300086 skos:exactMatch HGNC:4478 Unspecified LPAR4 +OMIM:300086 skos:exactMatch UMLS:C1415216 Unspecified LPAR4 +OMIM:602422 skos:exactMatch UMLS:C1420085 Unspecified SLBP +OMIM:602422 skos:exactMatch HGNC:10904 Unspecified SLBP +OMIM:602422 skos:exactMatch HGNC_symbol:SLBP Unspecified SLBP +OMIM:602423 skos:exactMatch UMLS:C1417824 Unspecified NR1H3 +OMIM:602423 skos:exactMatch HGNC_symbol:NR1H3 Unspecified NR1H3 +OMIM:602423 skos:exactMatch HGNC:7966 Unspecified NR1H3 +OMIM:516020 skos:exactMatch UMLS:C1537988 Unspecified MTCYB +OMIM:516020 skos:exactMatch HGNC_symbol:MT-CYB Unspecified MTCYB +OMIM:516020 skos:exactMatch HGNC:7427 Unspecified MTCYB +OMIM:300089 skos:exactMatch UMLS:C1415880 Unspecified IDH3G +OMIM:300089 skos:exactMatch HGNC_symbol:IDH3G Unspecified IDH3G +OMIM:300089 skos:exactMatch HGNC:5386 Unspecified IDH3G +OMIM:300088 skos:exactMatch ORPHA:101039 Unspecified developmental and epileptic encephalopathy 9 +OMIM:300088 skos:exactMatch ORPHA:2076 Unspecified developmental and epileptic encephalopathy 9 +OMIM:300088 skos:exactMatch UMLS:C1848137 Unspecified developmental and epileptic encephalopathy 9 +OMIM:602424 skos:exactMatch HGNC_symbol:DMRT1 Unspecified DMRT1 +OMIM:602424 skos:exactMatch UMLS:C1414086 Unspecified DMRT1 +OMIM:602424 skos:exactMatch HGNC:2934 Unspecified DMRT1 +OMIM:602425 skos:exactMatch HGNC:6856 Unspecified MAP3K4 +OMIM:602425 skos:exactMatch HGNC_symbol:MAP3K4 Unspecified MAP3K4 +OMIM:602425 skos:exactMatch UMLS:C1456388 Unspecified MAP3K4 +OMIM:602426 skos:exactMatch UMLS:C1417897 Unspecified NVL +OMIM:602426 skos:exactMatch HGNC:8070 Unspecified NVL +OMIM:602426 skos:exactMatch HGNC_symbol:NVL Unspecified NVL +OMIM:602427 skos:exactMatch HGNC:11605 Unspecified TBX6 +OMIM:602427 skos:exactMatch UMLS:C1420616 Unspecified TBX6 +OMIM:602427 skos:exactMatch UMLS:C4083048 Unspecified TBX6 +OMIM:602427 skos:exactMatch HGNC_symbol:TBX6 Unspecified TBX6 +OMIM:614409 skos:exactMatch UMLS:C2828721 Unspecified spastic paraplegia 46, autosomal recessive +OMIM:602428 skos:exactMatch HGNC:4820 Unspecified HAS3 +OMIM:602428 skos:exactMatch UMLS:C1415476 Unspecified HAS3 +OMIM:602428 skos:exactMatch HGNC_symbol:HAS3 Unspecified HAS3 +OMIM:602429 skos:exactMatch UMLS:C1865427 Unspecified glaucoma 1, open angle, d +OMIM:614407 skos:exactMatch UMLS:C3280692 Unspecified microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome +OMIM:614406 skos:exactMatch UMLS:C2240316 Unspecified SCIMP +OMIM:614406 skos:exactMatch HGNC:33504 Unspecified SCIMP +OMIM:614406 skos:exactMatch HGNC_symbol:SCIMP Unspecified SCIMP +OMIM:614405 skos:exactMatch HGNC_symbol:DHX33 Unspecified DHX33 +OMIM:614405 skos:exactMatch HGNC:16718 Unspecified DHX33 +OMIM:614405 skos:exactMatch UMLS:C1424504 Unspecified DHX33 +OMIM:312070 skos:exactMatch HGNC:12505 Unspecified UBL4A +OMIM:312070 skos:exactMatch UMLS:C1823579 Unspecified UBL4A +OMIM:312070 skos:exactMatch HGNC_symbol:UBL4A Unspecified UBL4A +OMIM:159800 skos:exactMatch UMLS:C1834579 Unspecified myoclonus, cerebellar ataxia, and deafness +OMIM:614404 skos:exactMatch UMLS:C1826825 Unspecified RHBDF2 +OMIM:614404 skos:exactMatch HGNC_symbol:RHBDF2 Unspecified RHBDF2 +OMIM:614404 skos:exactMatch HGNC:20788 Unspecified RHBDF2 +OMIM:614403 skos:exactMatch HGNC_symbol:RHBDF1 Unspecified RHBDF1 +OMIM:614403 skos:exactMatch UMLS:C1427003 Unspecified RHBDF1 +OMIM:614403 skos:exactMatch HGNC:20561 Unspecified RHBDF1 +OMIM:614402 skos:exactMatch UMLS:C3553077 Unspecified microphthalmia, syndromic 11 +OMIM:614401 skos:exactMatch UMLS:C3280690 Unspecified accelerated tumor formation, susceptibility to +OMIM:614400 skos:exactMatch UMLS:C3280689 Unspecified glucocorticoid therapy, response to +OMIM:614410 skos:exactMatch UMLS:C2239293 Unspecified AFAP1L1 +OMIM:614410 skos:exactMatch HGNC:26714 Unspecified AFAP1L1 +OMIM:614410 skos:exactMatch HGNC_symbol:AFAP1L1 Unspecified AFAP1L1 +OMIM:147830 skos:exactMatch UMLS:C1421221 Unspecified TTIM1 +OMIM:300090 skos:exactMatch HGNC:11326 Unspecified SSR4 +OMIM:300090 skos:exactMatch HGNC_symbol:SSR4 Unspecified SSR4 +OMIM:300090 skos:exactMatch UMLS:C1420431 Unspecified SSR4 +OMIM:300092 skos:exactMatch UMLS:C1413831 Unspecified TEX28 +OMIM:300092 skos:exactMatch HGNC_symbol:TEX28 Unspecified TEX28 +OMIM:300092 skos:exactMatch HGNC:2563 Unspecified TEX28 +OMIM:300091 skos:exactMatch HGNC_symbol:VEGFD Unspecified FIGF +OMIM:300091 skos:exactMatch HGNC:3708 Unspecified FIGF +OMIM:300091 skos:exactMatch UMLS:C1414615 Unspecified FIGF +OMIM:300093 skos:exactMatch HGNC:4085 Unspecified GABRE +OMIM:300093 skos:exactMatch HGNC_symbol:GABRE Unspecified GABRE +OMIM:300093 skos:exactMatch UMLS:C1414918 Unspecified GABRE +OMIM:300096 skos:exactMatch HGNC_symbol:TSPAN7 Unspecified TSPAN7 +OMIM:300096 skos:exactMatch UMLS:C1540087 Unspecified TSPAN7 +OMIM:300096 skos:exactMatch HGNC:11854 Unspecified TSPAN7 +OMIM:602430 skos:exactMatch HGNC_symbol:ROBO1 Unspecified ROBO1 +OMIM:602430 skos:exactMatch UMLS:C1419596 Unspecified ROBO1 +OMIM:602430 skos:exactMatch HGNC:10249 Unspecified ROBO1 +OMIM:300095 skos:exactMatch HGNC_symbol:SLC16A2 Unspecified SLC16A2 +OMIM:300095 skos:exactMatch UMLS:C1420103 Unspecified SLC16A2 +OMIM:300095 skos:exactMatch HGNC:10923 Unspecified SLC16A2 +OMIM:602431 skos:exactMatch HGNC_symbol:ROBO2 Unspecified ROBO2 +OMIM:602431 skos:exactMatch UMLS:C1419597 Unspecified ROBO2 +OMIM:602431 skos:exactMatch HGNC:10250 Unspecified ROBO2 +OMIM:602410 skos:exactMatch UMLS:C1422516 Unspecified BRPF1 +OMIM:602410 skos:exactMatch HGNC:14255 Unspecified BRPF1 +OMIM:602410 skos:exactMatch HGNC_symbol:BRPF1 Unspecified BRPF1 +OMIM:300054 skos:exactMatch UMLS:C1848212 Unspecified body length, mouse, human homolog +OMIM:300053 skos:exactMatch UMLS:C1420536 Unspecified None +OMIM:300053 skos:exactMatch HGNC_symbol:VAMP7 Unspecified None +OMIM:300053 skos:exactMatch HGNC:11486 Unspecified None +OMIM:602411 skos:exactMatch HGNC:3516 Unspecified EXTL2 +OMIM:602411 skos:exactMatch HGNC_symbol:EXTL2 Unspecified EXTL2 +OMIM:602411 skos:exactMatch UMLS:C1333367 Unspecified EXTL2 +OMIM:602412 skos:exactMatch UMLS:C1419725 Unspecified RPS24 +OMIM:602412 skos:exactMatch HGNC:10411 Unspecified RPS24 +OMIM:602412 skos:exactMatch HGNC_symbol:RPS24 Unspecified RPS24 +OMIM:300056 skos:exactMatch HGNC:4837 Unspecified HCCS +OMIM:300056 skos:exactMatch UMLS:C1415491 Unspecified HCCS +OMIM:300056 skos:exactMatch HGNC_symbol:HCCS Unspecified HCCS +OMIM:602413 skos:exactMatch UMLS:C1419908 Unspecified SDHC +OMIM:602413 skos:exactMatch HGNC:10682 Unspecified SDHC +OMIM:602413 skos:exactMatch HGNC_symbol:SDHC Unspecified SDHC +OMIM:300055 skos:exactMatch UMLS:C1848211 Unspecified intellectual developmental disorder, x-linked, syndromic 13 +OMIM:300055 skos:exactMatch UMLS:C1968550 Unspecified intellectual developmental disorder, x-linked, syndromic 13 +OMIM:300055 skos:exactMatch UMLS:C1968551 Unspecified intellectual developmental disorder, x-linked, syndromic 13 +OMIM:300055 skos:exactMatch UMLS:C0796222 Unspecified intellectual developmental disorder, x-linked, syndromic 13 +OMIM:602414 skos:exactMatch HGNC:578 Unspecified APBA1 +OMIM:602414 skos:exactMatch HGNC_symbol:APBA1 Unspecified APBA1 +OMIM:602414 skos:exactMatch UMLS:C1412456 Unspecified APBA1 +OMIM:133200 skos:exactMatch UMLS:C1851480 Unspecified erythrokeratodermia variabilis et progressiva 1 +OMIM:133200 skos:exactMatch UMLS:C1851479 Unspecified erythrokeratodermia variabilis et progressiva 1 +OMIM:133200 skos:exactMatch UMLS:C4551486 Unspecified erythrokeratodermia variabilis et progressiva 1 +OMIM:133200 skos:exactMatch UMLS:C0265961 Unspecified erythrokeratodermia variabilis et progressiva 1 +OMIM:590025 skos:exactMatch HGNC:7479 Unspecified MTTE +OMIM:590025 skos:exactMatch UMLS:C1538001 Unspecified MTTE +OMIM:590025 skos:exactMatch HGNC_symbol:MT-TE Unspecified MTTE +OMIM:602415 skos:exactMatch HGNC:3058 Unspecified DTNB +OMIM:602415 skos:exactMatch UMLS:C1414177 Unspecified DTNB +OMIM:602415 skos:exactMatch HGNC_symbol:DTNB Unspecified DTNB +OMIM:602416 skos:exactMatch HGNC_symbol:AP3S2 Unspecified AP3S2 +OMIM:602416 skos:exactMatch HGNC:571 Unspecified AP3S2 +OMIM:602416 skos:exactMatch UMLS:C1412451 Unspecified AP3S2 +OMIM:265000 skos:exactMatch UMLS:C0265261 Unspecified multiple pterygium syndrome, escobar variant +OMIM:300059 skos:exactMatch HGNC_symbol:TMEM187 Unspecified TMEM187 +OMIM:300059 skos:exactMatch HGNC:13705 Unspecified TMEM187 +OMIM:300059 skos:exactMatch UMLS:C1422152 Unspecified TMEM187 +OMIM:602418 skos:exactMatch UMLS:C1865566 Unspecified weyers ulnar ray/oligodactyly syndrome +OMIM:602419 skos:exactMatch HGNC:3240 Unspecified EGR3 +OMIM:602419 skos:exactMatch HGNC_symbol:EGR3 Unspecified EGR3 +OMIM:602419 skos:exactMatch UMLS:C1414316 Unspecified EGR3 +OMIM:172800 skos:exactMatch UMLS:C0080024 Unspecified piebald trait +OMIM:312040 skos:exactMatch HGNC:9173 Unspecified POLA1 +OMIM:312040 skos:exactMatch HGNC_symbol:POLA1 Unspecified POLA1 +OMIM:312040 skos:exactMatch UMLS:C1826642 Unspecified POLA1 +OMIM:516050 skos:exactMatch HGNC_symbol:MT-CO3 Unspecified MTCO3 +OMIM:516050 skos:exactMatch HGNC:7422 Unspecified MTCO3 +OMIM:516050 skos:exactMatch UMLS:C1537987 Unspecified MTCO3 +OMIM:590020 skos:exactMatch HGNC:7477 Unspecified MTTC +OMIM:590020 skos:exactMatch HGNC_symbol:MT-TC Unspecified MTTC +OMIM:590020 skos:exactMatch UMLS:C1537999 Unspecified MTTC +OMIM:253010 skos:exactMatch UMLS:C0086652 Unspecified mucopolysaccharidosis, iia 4b +OMIM:253010 skos:exactMatch ORPHA:582 Unspecified mucopolysaccharidosis, iia 4b +OMIM:253010 skos:exactMatch ORPHA:309310 Unspecified mucopolysaccharidosis, iia 4b +OMIM:147840 skos:exactMatch HGNC_symbol:ICAM1 Unspecified ICAM1 +OMIM:147840 skos:exactMatch UMLS:C1334074 Unspecified ICAM1 +OMIM:147840 skos:exactMatch HGNC:5344 Unspecified ICAM1 +OMIM:300061 skos:exactMatch UMLS:C1823959 Unspecified ZMYM3 +OMIM:300061 skos:exactMatch HGNC:13054 Unspecified ZMYM3 +OMIM:300061 skos:exactMatch HGNC_symbol:ZMYM3 Unspecified ZMYM3 +OMIM:300060 skos:exactMatch HGNC:26058 Unspecified LAGE3 +OMIM:300060 skos:exactMatch HGNC_symbol:LAGE3 Unspecified LAGE3 +OMIM:300060 skos:exactMatch UMLS:C1825785 Unspecified LAGE3 +OMIM:300062 skos:exactMatch UMLS:C0796220 Unspecified intellectual developmental disorder, X-linked 14 +OMIM:602420 skos:exactMatch UMLS:C1416544 Unspecified KCNA10 +OMIM:602420 skos:exactMatch HGNC_symbol:KCNA10 Unspecified KCNA10 +OMIM:602420 skos:exactMatch HGNC:6219 Unspecified KCNA10 +OMIM:300065 skos:exactMatch HGNC:3968 Unspecified CENPI +OMIM:300065 skos:exactMatch UMLS:C1824700 Unspecified CENPI +OMIM:300065 skos:exactMatch HGNC_symbol:CENPI Unspecified CENPI +OMIM:590010 skos:exactMatch HGNC:7493 Unspecified MTTN +OMIM:590010 skos:exactMatch UMLS:C1538009 Unspecified MTTN +OMIM:590010 skos:exactMatch HGNC_symbol:MT-TN Unspecified MTTN +OMIM:590010 skos:exactMatch UMLS:C4722143 Unspecified MTTN +OMIM:602400 skos:exactMatch UMLS:C1835851 Unspecified ichthyosis, congenital, autosomal recessive 11 +OMIM:300064 skos:exactMatch UMLS:C2931516 Unspecified mental retardation, x-linked, with craniofacial dysmorphism +OMIM:300067 skos:exactMatch UMLS:C1848070 Unspecified lissencephaly, x-linked, 1 +OMIM:300067 skos:exactMatch UMLS:C1848201 Unspecified lissencephaly, x-linked, 1 +OMIM:300067 skos:exactMatch UMLS:C1848200 Unspecified lissencephaly, x-linked, 1 +OMIM:300067 skos:exactMatch UMLS:C4551968 Unspecified lissencephaly, x-linked, 1 +OMIM:602401 skos:exactMatch UMLS:C3551424 Unspecified ectodermal dysplasia 8, hair/tooth/nail iia +OMIM:602402 skos:exactMatch HGNC:3801 Unspecified FOXC2 +OMIM:602402 skos:exactMatch UMLS:C1414669 Unspecified FOXC2 +OMIM:602402 skos:exactMatch HGNC_symbol:FOXC2 Unspecified FOXC2 +OMIM:300066 skos:exactMatch UMLS:C1848204 Unspecified deafness, X-linked 4 +OMIM:602403 skos:exactMatch HGNC_symbol:BLMH Unspecified BLMH +OMIM:602403 skos:exactMatch UMLS:C1412800 Unspecified BLMH +OMIM:602403 skos:exactMatch HGNC:1059 Unspecified BLMH +OMIM:590015 skos:exactMatch HGNC:7478 Unspecified MTTD +OMIM:590015 skos:exactMatch UMLS:C1538000 Unspecified MTTD +OMIM:590015 skos:exactMatch HGNC_symbol:MT-TD Unspecified MTTD +OMIM:300068 skos:exactMatch UMLS:C0039585 Unspecified androgen insensitivity syndrome +OMIM:602404 skos:exactMatch UMLS:C1865581 Unspecified parkinson disease 3, autosomal dominant +OMIM:602406 skos:exactMatch HGNC_symbol:HAND1 Unspecified HAND1 +OMIM:602406 skos:exactMatch HGNC:4807 Unspecified HAND1 +OMIM:602406 skos:exactMatch UMLS:C1415466 Unspecified HAND1 +OMIM:602407 skos:exactMatch HGNC_symbol:HAND2 Unspecified HAND2 +OMIM:602407 skos:exactMatch HGNC:4808 Unspecified HAND2 +OMIM:602407 skos:exactMatch UMLS:C1415467 Unspecified HAND2 +OMIM:602408 skos:exactMatch HGNC_symbol:NR1D1 Unspecified NR1D1 +OMIM:602408 skos:exactMatch HGNC:7962 Unspecified NR1D1 +OMIM:602408 skos:exactMatch UMLS:C1417821 Unspecified NR1D1 +OMIM:602409 skos:exactMatch HGNC_symbol:MLLT10 Unspecified MLLT10 +OMIM:602409 skos:exactMatch UMLS:C1423947 Unspecified MLLT10 +OMIM:602409 skos:exactMatch HGNC:16063 Unspecified MLLT10 +OMIM:516040 skos:exactMatch UMLS:C1537986 Unspecified MTCO2 +OMIM:516040 skos:exactMatch HGNC_symbol:MT-CO2 Unspecified MTCO2 +OMIM:516040 skos:exactMatch HGNC:7421 Unspecified MTCO2 +OMIM:147851 skos:exactMatch UMLS:C1334120 Unspecified IL5RA +OMIM:147851 skos:exactMatch HGNC:6017 Unspecified IL5RA +OMIM:147851 skos:exactMatch HGNC_symbol:IL5RA Unspecified IL5RA +OMIM:147850 skos:exactMatch HGNC_symbol:IL5 Unspecified IL5 +OMIM:147850 skos:exactMatch UMLS:C1334121 Unspecified IL5 +OMIM:147850 skos:exactMatch HGNC:6016 Unspecified IL5 +OMIM:300070 skos:exactMatch UMLS:C1414598 Unspecified FGF13 +OMIM:300070 skos:exactMatch HGNC_symbol:FGF13 Unspecified FGF13 +OMIM:300070 skos:exactMatch HGNC:3670 Unspecified FGF13 +OMIM:300072 skos:exactMatch HGNC_symbol:USP9X Unspecified USP9X +OMIM:300072 skos:exactMatch HGNC:12632 Unspecified USP9X +OMIM:300072 skos:exactMatch UMLS:C1421409 Unspecified USP9X +OMIM:300071 skos:exactMatch UMLS:C1848172 Unspecified night blindness, congenital stationary, iia 2a +OMIM:300074 skos:exactMatch HGNC:12804 Unspecified XCE +OMIM:300074 skos:exactMatch HGNC_symbol:XCE Unspecified XCE +OMIM:300074 skos:exactMatch UMLS:C1421530 Unspecified XCE +OMIM:300073 skos:exactMatch UMLS:C1848171 Unspecified fetal akinesia syndrome, X-linked +OMIM:602477 skos:exactMatch UMLS:C1865342 Unspecified epilepsy, idiopathic generalized, susceptibility to, 17 +OMIM:602478 skos:exactMatch HGNC:2977 Unspecified TRDMT1 +OMIM:602478 skos:exactMatch UMLS:C1823482 Unspecified TRDMT1 +OMIM:602478 skos:exactMatch HGNC_symbol:TRDMT1 Unspecified TRDMT1 +OMIM:602479 skos:exactMatch HGNC_symbol:POU3F1 Unspecified POU3F1 +OMIM:602479 skos:exactMatch UMLS:C1418761 Unspecified POU3F1 +OMIM:602479 skos:exactMatch HGNC:9214 Unspecified POU3F1 +OMIM:133220 skos:exactMatch UMLS:C1414456 Unspecified ESA4 +OMIM:133220 skos:exactMatch HGNC_symbol:ESA4 Unspecified ESA4 +OMIM:133220 skos:exactMatch HGNC:3462 Unspecified ESA4 +OMIM:614459 skos:exactMatch UMLS:C1823401 Unspecified TMEM138 +OMIM:614459 skos:exactMatch HGNC_symbol:TMEM138 Unspecified TMEM138 +OMIM:614459 skos:exactMatch HGNC:26944 Unspecified TMEM138 +OMIM:614458 skos:exactMatch UMLS:C3280866 Unspecified thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) +OMIM:614457 skos:exactMatch UMLS:C3280856 Unspecified ichthyosis, spastic quadriplegia, and mental retardation +OMIM:614456 skos:exactMatch UMLS:C3152204 Unspecified melanoma, cutaneous malignant, susceptibility to, 8 +OMIM:614455 skos:exactMatch UMLS:C3280845 Unspecified charcot-marie-tooth disease, dominant intermediate e +OMIM:147860 skos:exactMatch UMLS:C1415913 Unspecified interferon, beta-3 +OMIM:614465 skos:exactMatch UMLS:C3280906 Unspecified joubert syndrome 16 +OMIM:614464 skos:exactMatch UMLS:C3280897 Unspecified joubert syndrome 15 +OMIM:614464 skos:exactMatch UMLS:C3280898 Unspecified joubert syndrome 15 +OMIM:614464 skos:exactMatch UMLS:C3280899 Unspecified joubert syndrome 15 +OMIM:614463 skos:exactMatch HGNC:14466 Unspecified NDRG4 +OMIM:614463 skos:exactMatch UMLS:C1422672 Unspecified NDRG4 +OMIM:614463 skos:exactMatch HGNC_symbol:NDRG4 Unspecified NDRG4 +OMIM:614462 skos:exactMatch UMLS:C3280887 Unspecified hyperglycinemia, lactic acidosis, and seizures +OMIM:231680 skos:exactMatch UMLS:C0268596 Unspecified multiple acyl-coa dehydrogenase deficiency +OMIM:231680 skos:exactMatch UMLS:C1856403 Unspecified multiple acyl-coa dehydrogenase deficiency +OMIM:231680 skos:exactMatch UMLS:C1856401 Unspecified multiple acyl-coa dehydrogenase deficiency +OMIM:231680 skos:exactMatch UMLS:C1856405 Unspecified multiple acyl-coa dehydrogenase deficiency +OMIM:231680 skos:exactMatch UMLS:C3278155 Unspecified multiple acyl-coa dehydrogenase deficiency +OMIM:231680 skos:exactMatch UMLS:C3278156 Unspecified multiple acyl-coa dehydrogenase deficiency +OMIM:231680 skos:exactMatch UMLS:C3278154 Unspecified multiple acyl-coa dehydrogenase deficiency +OMIM:614461 skos:exactMatch HGNC:21237 Unspecified UQCC2 +OMIM:614461 skos:exactMatch UMLS:C1427441 Unspecified UQCC2 +OMIM:614461 skos:exactMatch HGNC_symbol:UQCC2 Unspecified UQCC2 +OMIM:614460 skos:exactMatch HGNC:20076 Unspecified USP47 +OMIM:614460 skos:exactMatch HGNC_symbol:USP47 Unspecified USP47 +OMIM:614460 skos:exactMatch UMLS:C1426664 Unspecified USP47 +OMIM:145200 skos:exactMatch UMLS:C1840393 Unspecified hyperpigmentation of fuldauer and kuijpers +OMIM:602480 skos:exactMatch HGNC_symbol:POU3F3 Unspecified POU3F3 +OMIM:602480 skos:exactMatch UMLS:C5231424 Unspecified POU3F3 +OMIM:602480 skos:exactMatch UMLS:C1418763 Unspecified POU3F3 +OMIM:602480 skos:exactMatch HGNC:9216 Unspecified POU3F3 +OMIM:602481 skos:exactMatch UMLS:C1865322 Unspecified migraine, familial hemiplegic, 2 +OMIM:602481 skos:exactMatch UMLS:C1865323 Unspecified migraine, familial hemiplegic, 2 +OMIM:602482 skos:exactMatch UMLS:C2678503 Unspecified axenfeld-rieger syndrome, iia 3 +OMIM:602483 skos:exactMatch UMLS:C4551996 Unspecified auriculocondylar syndrome 1 +OMIM:602484 skos:exactMatch UMLS:C1865294 Unspecified pelvic hypoplasia with lower-limb arthrogryposis +OMIM:602485 skos:exactMatch UMLS:C1865290 Unspecified hyperinsulinemic hypoglycemia, familial, 3 +OMIM:602486 skos:exactMatch HGNC:30129 Unspecified POP1 +OMIM:602486 skos:exactMatch HGNC_symbol:POP1 Unspecified POP1 +OMIM:602486 skos:exactMatch UMLS:C1428935 Unspecified POP1 +OMIM:133230 skos:exactMatch UMLS:C1851477 Unspecified ESA5 +OMIM:602465 skos:exactMatch HGNC_symbol:SPRY1 Unspecified SPRY1 +OMIM:602465 skos:exactMatch HGNC:11269 Unspecified SPRY1 +OMIM:602465 skos:exactMatch UMLS:C1420382 Unspecified SPRY1 +OMIM:602466 skos:exactMatch HGNC_symbol:SPRY2 Unspecified SPRY2 +OMIM:602466 skos:exactMatch HGNC:11270 Unspecified SPRY2 +OMIM:602466 skos:exactMatch UMLS:C1420383 Unspecified SPRY2 +OMIM:602468 skos:exactMatch UMLS:C1423077 Unspecified PPP1R9A +OMIM:602468 skos:exactMatch HGNC:14946 Unspecified PPP1R9A +OMIM:602468 skos:exactMatch HGNC_symbol:PPP1R9A Unspecified PPP1R9A +OMIM:602469 skos:exactMatch HGNC_symbol:FOLR3 Unspecified FOLR3 +OMIM:602469 skos:exactMatch UMLS:C1414666 Unspecified FOLR3 +OMIM:602469 skos:exactMatch HGNC:3795 Unspecified FOLR3 +OMIM:614449 skos:exactMatch HGNC:14257 Unspecified PCDH20 +OMIM:614449 skos:exactMatch HGNC_symbol:PCDH20 Unspecified PCDH20 +OMIM:614449 skos:exactMatch UMLS:C1422518 Unspecified PCDH20 +OMIM:614448 skos:exactMatch UMLS:C3280816 Unspecified GMNC +OMIM:614448 skos:exactMatch HGNC:40049 Unspecified GMNC +OMIM:614448 skos:exactMatch HGNC_symbol:GMNC Unspecified GMNC +OMIM:614447 skos:exactMatch HGNC_symbol:G0S2 Unspecified G0S2 +OMIM:614447 skos:exactMatch HGNC:30229 Unspecified G0S2 +OMIM:614447 skos:exactMatch UMLS:C1825423 Unspecified G0S2 +OMIM:614446 skos:exactMatch HGNC_symbol:ATP9B Unspecified ATP9B +OMIM:614446 skos:exactMatch HGNC:13541 Unspecified ATP9B +OMIM:614446 skos:exactMatch UMLS:C1422051 Unspecified ATP9B +OMIM:614445 skos:exactMatch UMLS:C1426083 Unspecified DPPA2 +OMIM:614445 skos:exactMatch HGNC_symbol:DPPA2 Unspecified DPPA2 +OMIM:614445 skos:exactMatch HGNC:19197 Unspecified DPPA2 +OMIM:133239 skos:exactMatch UMLS:C0152018 Unspecified esophageal cancer +OMIM:133239 skos:exactMatch UMLS:C3149254 Unspecified esophageal cancer +OMIM:133239 skos:exactMatch UMLS:C3149255 Unspecified esophageal cancer +OMIM:133239 skos:exactMatch UMLS:C2751126 Unspecified esophageal cancer +OMIM:614444 skos:exactMatch HGNC:16851 Unspecified RALGPS1 +OMIM:614444 skos:exactMatch HGNC_symbol:RALGPS1 Unspecified RALGPS1 +OMIM:614444 skos:exactMatch UMLS:C1538780 Unspecified RALGPS1 +OMIM:614454 skos:exactMatch HGNC:16803 Unspecified UBE3C +OMIM:614454 skos:exactMatch UMLS:C1540149 Unspecified UBE3C +OMIM:614454 skos:exactMatch HGNC_symbol:UBE3C Unspecified UBE3C +OMIM:253000 skos:exactMatch UMLS:C0086651 Unspecified mucopolysaccharidosis, iia 4a +OMIM:253000 skos:exactMatch ORPHA:582 Unspecified mucopolysaccharidosis, iia 4a +OMIM:253000 skos:exactMatch ORPHA:309297 Unspecified mucopolysaccharidosis, iia 4a +OMIM:147870 skos:exactMatch HGNC:12780 Unspecified WNT2 +OMIM:147870 skos:exactMatch UMLS:C0812231 Unspecified WNT2 +OMIM:147870 skos:exactMatch HGNC_symbol:WNT2 Unspecified WNT2 +OMIM:614453 skos:exactMatch HGNC_symbol:LRRC7 Unspecified LRRC7 +OMIM:614453 skos:exactMatch UMLS:C1537596 Unspecified LRRC7 +OMIM:614453 skos:exactMatch HGNC:18531 Unspecified LRRC7 +OMIM:614452 skos:exactMatch HGNC:25903 Unspecified ATAD1 +OMIM:614452 skos:exactMatch HGNC_symbol:ATAD1 Unspecified ATAD1 +OMIM:614452 skos:exactMatch UMLS:C4693933 Unspecified ATAD1 +OMIM:614452 skos:exactMatch UMLS:C1428532 Unspecified ATAD1 +OMIM:231670 skos:exactMatch UMLS:C0268595 Unspecified glutaric acidemia 1 +OMIM:614451 skos:exactMatch HGNC:26292 Unspecified ELOVL7 +OMIM:614451 skos:exactMatch UMLS:C1539356 Unspecified ELOVL7 +OMIM:614451 skos:exactMatch HGNC_symbol:ELOVL7 Unspecified ELOVL7 +OMIM:614450 skos:exactMatch UMLS:C3280817 Unspecified hypothyroidism, congenital, nongoitrous, 6 +OMIM:314600 skos:exactMatch UMLS:C0265239 Unspecified wildervanck syndrome +OMIM:602470 skos:exactMatch UMLS:C1418977 Unspecified PSCA +OMIM:602470 skos:exactMatch HGNC_symbol:PSCA Unspecified PSCA +OMIM:602470 skos:exactMatch HGNC:9500 Unspecified PSCA +OMIM:602471 skos:exactMatch UMLS:C1865361 Unspecified short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities +OMIM:602472 skos:exactMatch UMLS:C1865360 Unspecified creases, infra-auricular cutaneous, with tall stature and advanced bone age +OMIM:602473 skos:exactMatch UMLS:C1865349 Unspecified encephalopathy, ethylmalonic +OMIM:231675 skos:exactMatch HGNC_symbol:ETFDH Unspecified ETFDH +OMIM:231675 skos:exactMatch UMLS:C1414473 Unspecified ETFDH +OMIM:231675 skos:exactMatch HGNC:3483 Unspecified ETFDH +OMIM:602474 skos:exactMatch HGNC_symbol:PKMYT1 Unspecified PKMYT1 +OMIM:602474 skos:exactMatch UMLS:C1538658 Unspecified PKMYT1 +OMIM:602474 skos:exactMatch HGNC:29650 Unspecified PKMYT1 +OMIM:602475 skos:exactMatch UMLS:C1865343 Unspecified ossification of the posterior longitudinal ligament of spine +OMIM:602454 skos:exactMatch HGNC:9683 Unspecified PTPRU +OMIM:602454 skos:exactMatch UMLS:C1419125 Unspecified PTPRU +OMIM:602454 skos:exactMatch HGNC_symbol:PTPRU Unspecified PTPRU +OMIM:133240 skos:exactMatch UMLS:C0341137 Unspecified esophageal ring, lower +OMIM:602457 skos:exactMatch UMLS:C1333530 Unspecified FADD +OMIM:602457 skos:exactMatch HGNC_symbol:FADD Unspecified FADD +OMIM:602457 skos:exactMatch HGNC:3573 Unspecified FADD +OMIM:602458 skos:exactMatch UMLS:C1420313 Unspecified SORT1 +OMIM:602458 skos:exactMatch HGNC_symbol:SORT1 Unspecified SORT1 +OMIM:602458 skos:exactMatch HGNC:11186 Unspecified SORT1 +OMIM:602459 skos:exactMatch UMLS:C1865366 Unspecified deafness, autosomal dominant 15 +OMIM:614439 skos:exactMatch UMLS:C1824214 Unspecified ARL14 +OMIM:614439 skos:exactMatch HGNC:22974 Unspecified ARL14 +OMIM:614439 skos:exactMatch HGNC_symbol:ARL14 Unspecified ARL14 +OMIM:614438 skos:exactMatch UMLS:C3280799 Unspecified cutis laxa, autosomal recessive, iia 3b +OMIM:614437 skos:exactMatch UMLS:C3280798 Unspecified cutis laxa, autosomal recessive, iia 1b +OMIM:614436 skos:exactMatch UMLS:C3280797 Unspecified charcot-marie-tooth disease, axonal, iia 2p +OMIM:614435 skos:exactMatch UMLS:C3280795 Unspecified hypoplastic left heart syndrome 2 +OMIM:614434 skos:exactMatch UMLS:C3280794 Unspecified cutis laxa, autosomal dominant 2 +OMIM:614433 skos:exactMatch UMLS:C3280790 Unspecified atrial septal defect 8 +OMIM:614443 skos:exactMatch UMLS:C1456382 Unspecified EBNA1BP2 +OMIM:614443 skos:exactMatch HGNC_symbol:EBNA1BP2 Unspecified EBNA1BP2 +OMIM:614443 skos:exactMatch HGNC:15531 Unspecified EBNA1BP2 +OMIM:614442 skos:exactMatch UMLS:C3280815 Unspecified PSD4 +OMIM:614442 skos:exactMatch HGNC:19096 Unspecified PSD4 +OMIM:614442 skos:exactMatch HGNC_symbol:PSD4 Unspecified PSD4 +OMIM:147880 skos:exactMatch UMLS:C5394550 Unspecified IL6R +OMIM:147880 skos:exactMatch HGNC_symbol:IL6R Unspecified IL6R +OMIM:147880 skos:exactMatch UMLS:C1416409 Unspecified IL6R +OMIM:147880 skos:exactMatch UMLS:C3540094 Unspecified IL6R +OMIM:147880 skos:exactMatch UMLS:C3553493 Unspecified IL6R +OMIM:147880 skos:exactMatch HGNC:6019 Unspecified IL6R +OMIM:614441 skos:exactMatch UMLS:C3280800 Unspecified hypertrophic osteoarthropathy, primary, autosomal recessive, 2 +OMIM:614440 skos:exactMatch HGNC:19093 Unspecified PSD3 +OMIM:614440 skos:exactMatch UMLS:C1538736 Unspecified PSD3 +OMIM:614440 skos:exactMatch HGNC_symbol:PSD3 Unspecified PSD3 +OMIM:602460 skos:exactMatch HGNC_symbol:POU4F3 Unspecified POU4F3 +OMIM:602460 skos:exactMatch UMLS:C1418767 Unspecified POU4F3 +OMIM:602460 skos:exactMatch HGNC:9220 Unspecified POU4F3 +OMIM:602461 skos:exactMatch HGNC:9662 Unspecified PTPNS1 +OMIM:602461 skos:exactMatch UMLS:C1822726 Unspecified PTPNS1 +OMIM:602461 skos:exactMatch HGNC_symbol:SIRPA Unspecified PTPNS1 +OMIM:602462 skos:exactMatch UMLS:C1413714 Unspecified CRMP1 +OMIM:602462 skos:exactMatch HGNC_symbol:CRMP1 Unspecified CRMP1 +OMIM:602462 skos:exactMatch HGNC:2365 Unspecified CRMP1 +OMIM:602463 skos:exactMatch HGNC_symbol:DPYSL2 Unspecified DPYSL2 +OMIM:602463 skos:exactMatch HGNC:3014 Unspecified DPYSL2 +OMIM:602463 skos:exactMatch UMLS:C1414145 Unspecified DPYSL2 +OMIM:602464 skos:exactMatch UMLS:C1336665 Unspecified TRAF4 +OMIM:602464 skos:exactMatch HGNC:12034 Unspecified TRAF4 +OMIM:602464 skos:exactMatch HGNC_symbol:TRAF4 Unspecified TRAF4 +OMIM:602443 skos:exactMatch HGNC:12822 Unspecified XPNPEP1 +OMIM:602443 skos:exactMatch UMLS:C1421542 Unspecified XPNPEP1 +OMIM:602443 skos:exactMatch HGNC_symbol:XPNPEP1 Unspecified XPNPEP1 +OMIM:602444 skos:exactMatch UMLS:C1420634 Unspecified ZNF354A +OMIM:602444 skos:exactMatch HGNC:11628 Unspecified ZNF354A +OMIM:602444 skos:exactMatch HGNC_symbol:ZNF354A Unspecified ZNF354A +OMIM:602445 skos:exactMatch HGNC_symbol:SERPINI1 Unspecified SERPINI1 +OMIM:602445 skos:exactMatch HGNC:8943 Unspecified SERPINI1 +OMIM:602445 skos:exactMatch UMLS:C1418546 Unspecified SERPINI1 +OMIM:602446 skos:exactMatch UMLS:C1415197 Unspecified GPC5 +OMIM:602446 skos:exactMatch HGNC_symbol:GPC5 Unspecified GPC5 +OMIM:602446 skos:exactMatch HGNC:4453 Unspecified GPC5 +OMIM:241000 skos:exactMatch UMLS:C1855858 Unspecified hypogonadism with low-grade mental deficiency and microcephaly +OMIM:602447 skos:exactMatch HGNC_symbol:PON2 Unspecified PON2 +OMIM:602447 skos:exactMatch HGNC:9205 Unspecified PON2 +OMIM:602447 skos:exactMatch UMLS:C4016795 Unspecified PON2 +OMIM:602447 skos:exactMatch UMLS:C1418755 Unspecified PON2 +OMIM:302600 skos:exactMatch UMLS:C1844885 Unspecified spinocerebellar ataxia, X-linked 2 +OMIM:157200 skos:exactMatch UMLS:C1834876 Unspecified midphalangeal hair +OMIM:602448 skos:exactMatch HGNC:6857 Unspecified MAP3K5 +OMIM:602448 skos:exactMatch UMLS:C1417014 Unspecified MAP3K5 +OMIM:602448 skos:exactMatch HGNC_symbol:MAP3K5 Unspecified MAP3K5 +OMIM:602449 skos:exactMatch HGNC_symbol:AKAP1 Unspecified AKAP1 +OMIM:602449 skos:exactMatch HGNC:367 Unspecified AKAP1 +OMIM:602449 skos:exactMatch UMLS:C1412311 Unspecified AKAP1 +OMIM:614429 skos:exactMatch UMLS:C3280777 Unspecified ventricular septal defect 1 +OMIM:614428 skos:exactMatch UMLS:C1539952 Unspecified TFAP2E +OMIM:614428 skos:exactMatch HGNC:30774 Unspecified TFAP2E +OMIM:614428 skos:exactMatch HGNC_symbol:TFAP2E Unspecified TFAP2E +OMIM:614427 skos:exactMatch HGNC_symbol:TSHZ1 Unspecified TSHZ1 +OMIM:614427 skos:exactMatch HGNC:10669 Unspecified TSHZ1 +OMIM:614427 skos:exactMatch UMLS:C1823514 Unspecified TSHZ1 +OMIM:614426 skos:exactMatch UMLS:C1824250 Unspecified TTI2 +OMIM:614426 skos:exactMatch HGNC:26262 Unspecified TTI2 +OMIM:614426 skos:exactMatch HGNC_symbol:TTI2 Unspecified TTI2 +OMIM:614425 skos:exactMatch HGNC:29029 Unspecified TTI1 +OMIM:614425 skos:exactMatch UMLS:C3146829 Unspecified TTI1 +OMIM:614425 skos:exactMatch HGNC_symbol:TTI1 Unspecified TTI1 +OMIM:614424 skos:exactMatch UMLS:C3280766 Unspecified joubert syndrome 14 +OMIM:614423 skos:exactMatch UMLS:C3146739 Unspecified TMEM237 +OMIM:614423 skos:exactMatch HGNC:14432 Unspecified TMEM237 +OMIM:614423 skos:exactMatch HGNC_symbol:TMEM237 Unspecified TMEM237 +OMIM:614422 skos:exactMatch UMLS:C3280758 Unspecified cataract 37 +OMIM:614432 skos:exactMatch UMLS:C3280785 Unspecified ventricular septal defect 3 +OMIM:147892 skos:exactMatch UMLS:C1414051 Unspecified DIO1 +OMIM:147892 skos:exactMatch HGNC_symbol:DIO1 Unspecified DIO1 +OMIM:147892 skos:exactMatch HGNC:2883 Unspecified DIO1 +OMIM:614431 skos:exactMatch UMLS:C3280783 Unspecified ventricular septal defect 2 +OMIM:147891 skos:exactMatch ORPHA:1509 Unspecified ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension +OMIM:147891 skos:exactMatch UMLS:C1868581 Unspecified ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension +OMIM:147891 skos:exactMatch UMLS:C1840061 Unspecified ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension +OMIM:614430 skos:exactMatch UMLS:C3280781 Unspecified atrioventricular septal defect 4 +OMIM:147890 skos:exactMatch UMLS:C1417511 Unspecified MX2 +OMIM:147890 skos:exactMatch HGNC_symbol:MX2 Unspecified MX2 +OMIM:147890 skos:exactMatch HGNC:7533 Unspecified MX2 +OMIM:231690 skos:exactMatch UMLS:C0342873 Unspecified glutaric aciduria 3 +OMIM:184800 skos:exactMatch UMLS:C1861485 Unspecified sternum, premature obliteration of sutures of +OMIM:602450 skos:exactMatch UMLS:C1865373 Unspecified severe combined immunodeficiency with sensitivity to ionizing radiation +OMIM:602450 skos:exactMatch UMLS:C1865372 Unspecified severe combined immunodeficiency with sensitivity to ionizing radiation +OMIM:602450 skos:exactMatch UMLS:C1865370 Unspecified severe combined immunodeficiency with sensitivity to ionizing radiation +OMIM:602450 skos:exactMatch UMLS:C1865371 Unspecified severe combined immunodeficiency with sensitivity to ionizing radiation +OMIM:602451 skos:exactMatch HGNC:8543 Unspecified P2RY6 +OMIM:602451 skos:exactMatch UMLS:C1418221 Unspecified P2RY6 +OMIM:602451 skos:exactMatch HGNC_symbol:P2RY6 Unspecified P2RY6 +OMIM:602452 skos:exactMatch UMLS:C1332455 Unspecified BUB1 +OMIM:602452 skos:exactMatch HGNC_symbol:BUB1 Unspecified BUB1 +OMIM:602452 skos:exactMatch HGNC:1148 Unspecified BUB1 +OMIM:602453 skos:exactMatch HGNC_symbol:ITGAD Unspecified ITGAD +OMIM:602453 skos:exactMatch HGNC:6146 Unspecified ITGAD +OMIM:602453 skos:exactMatch UMLS:C1416492 Unspecified ITGAD +OMIM:184850 skos:exactMatch UMLS:C0085292 Unspecified stiff-person syndrome +OMIM:184850 skos:exactMatch UMLS:C1861457 Unspecified stiff-person syndrome +OMIM:302650 skos:exactMatch UMLS:C1332741 Unspecified CDR1 +OMIM:302650 skos:exactMatch HGNC_symbol:CDR1 Unspecified CDR1 +OMIM:302650 skos:exactMatch HGNC:1798 Unspecified CDR1 +OMIM:133260 skos:exactMatch UMLS:C0054741 Unspecified esterase B +OMIM:218670 skos:exactMatch UMLS:C1857471 Unspecified craniotelencephalic dysplasia +OMIM:614499 skos:exactMatch UMLS:C3281044 Unspecified intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly +OMIM:172860 skos:exactMatch HGNC:8824 Unspecified SERPINF1 +OMIM:172860 skos:exactMatch UMLS:C1418450 Unspecified SERPINF1 +OMIM:172860 skos:exactMatch HGNC_symbol:SERPINF1 Unspecified SERPINF1 +OMIM:228000 skos:exactMatch ORPHA:333 Unspecified farber lipogranulomatosis +OMIM:228000 skos:exactMatch UMLS:C0268255 Unspecified farber lipogranulomatosis +OMIM:170200 skos:exactMatch HGNC:8841 Unspecified PEPE +OMIM:170200 skos:exactMatch HGNC_symbol:PEPE Unspecified PEPE +OMIM:170200 skos:exactMatch UMLS:C1418463 Unspecified PEPE +OMIM:133270 skos:exactMatch UMLS:C1851476 Unspecified esterase c +OMIM:300001 skos:exactMatch UMLS:C1848387 Unspecified ichthyosis, x-linked, without steroid sulfatase deficiency +OMIM:300000 skos:exactMatch UMLS:C2936904 Unspecified opitz gbbb syndrome +OMIM:300003 skos:exactMatch UMLS:C1412560 Unspecified ARSF +OMIM:300003 skos:exactMatch HGNC_symbol:ARSF Unspecified ARSF +OMIM:300003 skos:exactMatch HGNC:721 Unspecified ARSF +OMIM:182200 skos:exactMatch UMLS:C1866959 Unspecified sella turcica, bridged +OMIM:300002 skos:exactMatch UMLS:C1412556 Unspecified ARSD +OMIM:300002 skos:exactMatch HGNC_symbol:ARSD Unspecified ARSD +OMIM:300002 skos:exactMatch HGNC:717 Unspecified ARSD +OMIM:300005 skos:exactMatch HGNC:6990 Unspecified MECP2 +OMIM:300005 skos:exactMatch UMLS:C1417098 Unspecified MECP2 +OMIM:300005 skos:exactMatch HGNC_symbol:MECP2 Unspecified MECP2 +OMIM:300004 skos:exactMatch UMLS:C0796124 Unspecified corpus callosum, agenesis of, with abnormal genitalia +OMIM:300004 skos:exactMatch ORPHA:2508 Unspecified corpus callosum, agenesis of, with abnormal genitalia +OMIM:300007 skos:exactMatch HGNC:6030 Unspecified IL9R +OMIM:300007 skos:exactMatch HGNC_symbol:IL9R Unspecified IL9R +OMIM:300007 skos:exactMatch UMLS:C1416413 Unspecified IL9R +OMIM:300006 skos:exactMatch HGNC:1867 Unspecified CETN2 +OMIM:300006 skos:exactMatch UMLS:C1413351 Unspecified CETN2 +OMIM:300006 skos:exactMatch HGNC_symbol:CETN2 Unspecified CETN2 +OMIM:300009 skos:exactMatch UMLS:C1848336 Unspecified dent disease 1 +OMIM:300008 skos:exactMatch HGNC_symbol:CLCN5 Unspecified CLCN5 +OMIM:300008 skos:exactMatch UMLS:C1413454 Unspecified CLCN5 +OMIM:300008 skos:exactMatch HGNC:2023 Unspecified CLCN5 +OMIM:145260 skos:exactMatch UMLS:C1840389 Unspecified pseudohypoaldosteronism, iia 2a +OMIM:614489 skos:exactMatch UMLS:C1826195 Unspecified MIR616 +OMIM:614489 skos:exactMatch HGNC_symbol:MIR616 Unspecified MIR616 +OMIM:614489 skos:exactMatch HGNC:32872 Unspecified MIR616 +OMIM:614488 skos:exactMatch UMLS:C2681738 Unspecified MIR1258 +OMIM:614488 skos:exactMatch HGNC_symbol:MIR1258 Unspecified MIR1258 +OMIM:614488 skos:exactMatch HGNC:35323 Unspecified MIR1258 +OMIM:614498 skos:exactMatch UMLS:C3281029 Unspecified rigidity and multifocal seizure syndrome, lethal neonatal +OMIM:614497 skos:exactMatch UMLS:C3281027 Unspecified microphthalmia, isolated, with coloboma 7 +OMIM:614496 skos:exactMatch UMLS:C3469606 Unspecified pseudohypoaldosteronism, iia 2e +OMIM:145250 skos:exactMatch UMLS:C1840392 Unspecified hyperpigmentation with or without hypopigmentation, familial progressive +OMIM:169200 skos:exactMatch UMLS:C1868545 Unspecified pechet factor deficiency +OMIM:614495 skos:exactMatch UMLS:C3469605 Unspecified pseudohypoaldosteronism, iia 2d +OMIM:614494 skos:exactMatch UMLS:C3281002 Unspecified retinitis pigmentosa 63 +OMIM:614493 skos:exactMatch UMLS:C3281001 Unspecified wiskott-aldrich syndrome 2 +OMIM:614493 skos:exactMatch ORPHA:906 Unspecified wiskott-aldrich syndrome 2 +OMIM:614492 skos:exactMatch UMLS:C1840391 Unspecified pseudohypoaldosteronism, iia 2c +OMIM:172850 skos:exactMatch UMLS:C1868311 Unspecified piebald trait with neurologic defects +OMIM:614491 skos:exactMatch UMLS:C1840390 Unspecified pseudohypoaldosteronism, iia 2b +OMIM:182205 skos:exactMatch HGNC:10839 Unspecified SHBG +OMIM:182205 skos:exactMatch UMLS:C1366439 Unspecified SHBG +OMIM:182205 skos:exactMatch HGNC_symbol:SHBG Unspecified SHBG +OMIM:614490 skos:exactMatch UMLS:C3280986 Unspecified blood group, junior system +OMIM:133280 skos:exactMatch HGNC:3465 Unspecified ESD +OMIM:133280 skos:exactMatch UMLS:C1414459 Unspecified ESD +OMIM:133280 skos:exactMatch HGNC_symbol:ESD Unspecified ESD +OMIM:231630 skos:exactMatch UMLS:C0008127 Unspecified monosodium glutamate sensitivity +OMIM:602498 skos:exactMatch HGNC_symbol:TFG Unspecified TFG +OMIM:602498 skos:exactMatch HGNC:11758 Unspecified TFG +OMIM:602498 skos:exactMatch UMLS:C1420703 Unspecified TFG +OMIM:602499 skos:exactMatch UMLS:C1865286 Unspecified macrophthalmia, colobomatous, with microcornea +OMIM:145270 skos:exactMatch UMLS:C1840388 Unspecified hyperproglucagonemia +OMIM:614479 skos:exactMatch HGNC_symbol:MCAT Unspecified MCAT +OMIM:614479 skos:exactMatch UMLS:C1825950 Unspecified MCAT +OMIM:614479 skos:exactMatch HGNC:29622 Unspecified MCAT +OMIM:614478 skos:exactMatch HGNC_symbol:COX14 Unspecified COX14 +OMIM:614478 skos:exactMatch UMLS:C5436692 Unspecified COX14 +OMIM:614478 skos:exactMatch UMLS:C1824382 Unspecified COX14 +OMIM:614478 skos:exactMatch HGNC:28216 Unspecified COX14 +OMIM:614477 skos:exactMatch HGNC_symbol:CFAP418 Unspecified CFAP418 +OMIM:614477 skos:exactMatch UMLS:C1824246 Unspecified CFAP418 +OMIM:614477 skos:exactMatch HGNC:27232 Unspecified CFAP418 +OMIM:614487 skos:exactMatch ORPHA:313772 Unspecified spastic ataxia 5, autosomal recessive +OMIM:614487 skos:exactMatch UMLS:C3280977 Unspecified spastic ataxia 5, autosomal recessive +OMIM:614486 skos:exactMatch UMLS:C3280976 Unspecified thrombophilia due to thrombomodulin defect +OMIM:614485 skos:exactMatch UMLS:C3280974 Unspecified trigonocephaly 2 +OMIM:172880 skos:exactMatch UMLS:C1868309 Unspecified pierre robin syndrome and oligodactyly +OMIM:614484 skos:exactMatch UMLS:C1538274 Unspecified ANAPC13 +OMIM:614484 skos:exactMatch HGNC:24540 Unspecified ANAPC13 +OMIM:614484 skos:exactMatch HGNC_symbol:ANAPC13 Unspecified ANAPC13 +OMIM:614483 skos:exactMatch ORPHA:99810 Unspecified brain small vessel disease 2 +OMIM:614483 skos:exactMatch ORPHA:2940 Unspecified brain small vessel disease 2 +OMIM:614483 skos:exactMatch UMLS:C3280970 Unspecified brain small vessel disease 2 +OMIM:614482 skos:exactMatch UMLS:C3280965 Unspecified congenital cataracts, hearing loss, and neurodegeneration +OMIM:614481 skos:exactMatch UMLS:C3280964 Unspecified ATXN7AS1 +OMIM:614481 skos:exactMatch HGNC:43718 Unspecified ATXN7AS1 +OMIM:614481 skos:exactMatch HGNC_symbol:SCAANT1 Unspecified ATXN7AS1 +OMIM:614480 skos:exactMatch UMLS:C3280953 Unspecified hypertriglyceridemia, transient infantile +OMIM:228020 skos:exactMatch UMLS:C1302740 Unspecified fascial dystrophy, congenital +OMIM:133290 skos:exactMatch UMLS:C1414458 Unspecified ESB3 +OMIM:133290 skos:exactMatch HGNC_symbol:ESB3 Unspecified ESB3 +OMIM:133290 skos:exactMatch HGNC:3464 Unspecified ESB3 +OMIM:602487 skos:exactMatch HGNC_symbol:RIDA Unspecified HRSP12 +OMIM:602487 skos:exactMatch UMLS:C1537379 Unspecified HRSP12 +OMIM:602487 skos:exactMatch HGNC:16897 Unspecified HRSP12 +OMIM:602488 skos:exactMatch UMLS:C1418979 Unspecified CYTH2 +OMIM:602488 skos:exactMatch HGNC:9502 Unspecified CYTH2 +OMIM:602488 skos:exactMatch HGNC_symbol:CYTH2 Unspecified CYTH2 +OMIM:602489 skos:exactMatch UMLS:C1425322 Unspecified KHDRBS1 +OMIM:602489 skos:exactMatch HGNC_symbol:KHDRBS1 Unspecified KHDRBS1 +OMIM:602489 skos:exactMatch HGNC:18116 Unspecified KHDRBS1 +OMIM:184840 skos:exactMatch UMLS:C1848488 Unspecified otospondylomegaepiphyseal dysplasia, autosomal dominant +OMIM:614469 skos:exactMatch HGNC:24101 Unspecified SRRT +OMIM:614469 skos:exactMatch HGNC_symbol:SRRT Unspecified SRRT +OMIM:614469 skos:exactMatch UMLS:C2680450 Unspecified SRRT +OMIM:614468 skos:exactMatch UMLS:C3280914 Unspecified familial cold autoinflammatory syndrome 3 +OMIM:614468 skos:exactMatch UMLS:C4722480 Unspecified familial cold autoinflammatory syndrome 3 +OMIM:614466 skos:exactMatch UMLS:C3280913 Unspecified coronary heart disease, susceptibility to, 6 +OMIM:614476 skos:exactMatch HGNC_symbol:THSD4 Unspecified THSD4 +OMIM:614476 skos:exactMatch HGNC:25835 Unspecified THSD4 +OMIM:614476 skos:exactMatch UMLS:C1823276 Unspecified THSD4 +OMIM:172870 skos:exactMatch UMLS:C1868310 Unspecified pigmented paravenous chorioretinal atrophy +OMIM:614475 skos:exactMatch UMLS:C3280943 Unspecified atrial septal defect 9 +OMIM:614474 skos:exactMatch UMLS:C3280939 Unspecified atrioventricular septal defect 5 +OMIM:614473 skos:exactMatch UMLS:C3276161 Unspecified arterial calcification, generalized, of infancy, 2 +OMIM:614472 skos:exactMatch HGNC_symbol:RNF123 Unspecified RNF123 +OMIM:614472 skos:exactMatch HGNC:21148 Unspecified RNF123 +OMIM:614472 skos:exactMatch UMLS:C1427363 Unspecified RNF123 +OMIM:614471 skos:exactMatch HGNC:12617 Unspecified USP19 +OMIM:614471 skos:exactMatch UMLS:C1421396 Unspecified USP19 +OMIM:614471 skos:exactMatch HGNC_symbol:USP19 Unspecified USP19 +OMIM:614470 skos:exactMatch UMLS:C2674723 Unspecified ras-associated autoimmune leukoproliferative disorder +OMIM:614470 skos:exactMatch ORPHA:268114 Unspecified ras-associated autoimmune leukoproliferative disorder +OMIM:602490 skos:exactMatch HGNC_symbol:NRIP1 Unspecified NRIP1 +OMIM:602490 skos:exactMatch HGNC:8001 Unspecified NRIP1 +OMIM:602490 skos:exactMatch UMLS:C1334904 Unspecified NRIP1 +OMIM:602491 skos:exactMatch UMLS:C1865289 Unspecified hyperlipidemia, familial combined, 1 +OMIM:602492 skos:exactMatch HGNC_symbol:PTX3 Unspecified PTX3 +OMIM:602492 skos:exactMatch HGNC:9692 Unspecified PTX3 +OMIM:602492 skos:exactMatch UMLS:C1419131 Unspecified PTX3 +OMIM:602493 skos:exactMatch HGNC:12640 Unspecified UVRAG +OMIM:602493 skos:exactMatch UMLS:C1421416 Unspecified UVRAG +OMIM:602493 skos:exactMatch HGNC_symbol:UVRAG Unspecified UVRAG +OMIM:255600 skos:exactMatch UMLS:C1850671 Unspecified myosclerosis, autosomal recessive +OMIM:602494 skos:exactMatch HGNC_symbol:CCL23 Unspecified CCL23 +OMIM:602494 skos:exactMatch UMLS:C1332686 Unspecified CCL23 +OMIM:602494 skos:exactMatch HGNC:10622 Unspecified CCL23 +OMIM:602495 skos:exactMatch HGNC_symbol:CCL24 Unspecified CCL24 +OMIM:602495 skos:exactMatch UMLS:C1332687 Unspecified CCL24 +OMIM:602495 skos:exactMatch HGNC:10623 Unspecified CCL24 +OMIM:602496 skos:exactMatch UMLS:C1417246 Unspecified MPST +OMIM:602496 skos:exactMatch HGNC_symbol:MPST Unspecified MPST +OMIM:602496 skos:exactMatch HGNC:7223 Unspecified MPST +OMIM:602497 skos:exactMatch UMLS:C1844853 Unspecified chondrodysplasia punctata, brachytelephalangic, autosomal +OMIM:182350 skos:exactMatch UMLS:C1412630 Unspecified ATP1A3 +OMIM:182350 skos:exactMatch HGNC_symbol:ATP1A3 Unspecified ATP1A3 +OMIM:182350 skos:exactMatch HGNC:801 Unspecified ATP1A3 +OMIM:267800 skos:exactMatch UMLS:C1849407 Unspecified retinal dystrophy, reticular pigmentary, of posterior pole +OMIM:228200 skos:exactMatch UMLS:C1856790 Unspecified femur-fibula-ulna syndrome +OMIM:182360 skos:exactMatch HGNC:13816 Unspecified ATP12A +OMIM:182360 skos:exactMatch UMLS:C1422211 Unspecified ATP12A +OMIM:182360 skos:exactMatch HGNC_symbol:ATP12A Unspecified ATP12A +OMIM:182331 skos:exactMatch HGNC:805 Unspecified ATP1B2 +OMIM:182331 skos:exactMatch UMLS:C1412632 Unspecified ATP1B2 +OMIM:182331 skos:exactMatch HGNC_symbol:ATP1B2 Unspecified ATP1B2 +OMIM:182330 skos:exactMatch HGNC:804 Unspecified ATP1B1 +OMIM:182330 skos:exactMatch UMLS:C1412631 Unspecified ATP1B1 +OMIM:182330 skos:exactMatch HGNC_symbol:ATP1B1 Unspecified ATP1B1 +OMIM:182340 skos:exactMatch HGNC:800 Unspecified ATP1A2 +OMIM:182340 skos:exactMatch UMLS:C1412629 Unspecified ATP1A2 +OMIM:182340 skos:exactMatch HGNC_symbol:ATP1A2 Unspecified ATP1A2 +OMIM:194320 skos:exactMatch UMLS:C1860237 Unspecified woronets trait +OMIM:255800 skos:exactMatch UMLS:C4551479 Unspecified schwartz-jampel syndrome, iia 1 +OMIM:255800 skos:exactMatch UMLS:C0036391 Unspecified schwartz-jampel syndrome, iia 1 +OMIM:182396 skos:exactMatch HGNC_symbol:SLC10A1 Unspecified SLC10A1 +OMIM:182396 skos:exactMatch UMLS:C1420086 Unspecified SLC10A1 +OMIM:182396 skos:exactMatch HGNC:10905 Unspecified SLC10A1 +OMIM:182391 skos:exactMatch UMLS:C1419861 Unspecified SCN3A +OMIM:182391 skos:exactMatch UMLS:C4693694 Unspecified SCN3A +OMIM:182391 skos:exactMatch UMLS:C4693699 Unspecified SCN3A +OMIM:182391 skos:exactMatch HGNC:10590 Unspecified SCN3A +OMIM:182391 skos:exactMatch HGNC_symbol:SCN3A Unspecified SCN3A +OMIM:182390 skos:exactMatch HGNC:10588 Unspecified SCN2A +OMIM:182390 skos:exactMatch UMLS:C3150987 Unspecified SCN2A +OMIM:182390 skos:exactMatch HGNC_symbol:SCN2A Unspecified SCN2A +OMIM:182390 skos:exactMatch UMLS:C5394520 Unspecified SCN2A +OMIM:182390 skos:exactMatch UMLS:C1419858 Unspecified SCN2A +OMIM:182390 skos:exactMatch UMLS:C1843140 Unspecified SCN2A +OMIM:182392 skos:exactMatch UMLS:C1419865 Unspecified SCN7A +OMIM:182392 skos:exactMatch HGNC:10594 Unspecified SCN7A +OMIM:182392 skos:exactMatch HGNC_symbol:SCN7A Unspecified SCN7A +OMIM:194370 skos:exactMatch UMLS:C1860232 Unspecified x-ray sensitivity +OMIM:243800 skos:exactMatch UMLS:C0175692 Unspecified johanson-blizzard syndrome +OMIM:121390 skos:exactMatch UMLS:C1852558 Unspecified cornea guttata with anterior polar cataracts +OMIM:194380 skos:exactMatch UMLS:C0272051 Unspecified dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema +OMIM:194380 skos:exactMatch UMLS:C4551512 Unspecified dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema +OMIM:170390 skos:exactMatch UMLS:C1563715 Unspecified andersen cardiodysrhythmic periodic paralysis +OMIM:204200 skos:exactMatch UMLS:C0751383 Unspecified ceroid lipofuscinosis, neuronal, 3 +OMIM:204200 skos:exactMatch ORPHA:79264 Unspecified ceroid lipofuscinosis, neuronal, 3 +OMIM:204200 skos:exactMatch ORPHA:228346 Unspecified ceroid lipofuscinosis, neuronal, 3 +OMIM:194355 skos:exactMatch HGNC_symbol:XBP1 Unspecified XBP1 +OMIM:194355 skos:exactMatch HGNC:12801 Unspecified XBP1 +OMIM:194355 skos:exactMatch UMLS:C1421527 Unspecified XBP1 +OMIM:194350 skos:exactMatch UMLS:C1327917 Unspecified wt limb-blood syndrome +OMIM:182389 skos:exactMatch UMLS:C1864987 Unspecified SCN1A +OMIM:182389 skos:exactMatch HGNC_symbol:SCN1A Unspecified SCN1A +OMIM:182389 skos:exactMatch UMLS:C1858673 Unspecified SCN1A +OMIM:182389 skos:exactMatch UMLS:C4016377 Unspecified SCN1A +OMIM:182389 skos:exactMatch UMLS:C1419856 Unspecified SCN1A +OMIM:182389 skos:exactMatch UMLS:C0751122 Unspecified SCN1A +OMIM:182389 skos:exactMatch HGNC:10585 Unspecified SCN1A +OMIM:182389 skos:exactMatch UMLS:C2751756 Unspecified SCN1A +OMIM:182380 skos:exactMatch HGNC:11036 Unspecified SLC5A1 +OMIM:182380 skos:exactMatch UMLS:C1420200 Unspecified SLC5A1 +OMIM:182380 skos:exactMatch HGNC_symbol:SLC5A1 Unspecified SLC5A1 +OMIM:182381 skos:exactMatch UMLS:C4016376 Unspecified SLC5A2 +OMIM:182381 skos:exactMatch HGNC:11037 Unspecified SLC5A2 +OMIM:182381 skos:exactMatch UMLS:C1420201 Unspecified SLC5A2 +OMIM:182381 skos:exactMatch HGNC_symbol:SLC5A2 Unspecified SLC5A2 +OMIM:182381 skos:exactMatch UMLS:C0017980 Unspecified SLC5A2 +OMIM:194363 skos:exactMatch HGNC:12831 Unspecified XRCC4 +OMIM:194363 skos:exactMatch HGNC_symbol:XRCC4 Unspecified XRCC4 +OMIM:194363 skos:exactMatch UMLS:C1337033 Unspecified XRCC4 +OMIM:194364 skos:exactMatch HGNC:12833 Unspecified XRCC5 +OMIM:194364 skos:exactMatch HGNC_symbol:XRCC5 Unspecified XRCC5 +OMIM:194364 skos:exactMatch UMLS:C1337034 Unspecified XRCC5 +OMIM:121360 skos:exactMatch UMLS:C1332671 Unspecified CBFB +OMIM:121360 skos:exactMatch HGNC_symbol:CBFB Unspecified CBFB +OMIM:121360 skos:exactMatch HGNC:1539 Unspecified CBFB +OMIM:121360 skos:exactMatch UMLS:C3276534 Unspecified CBFB +OMIM:194360 skos:exactMatch HGNC:12828 Unspecified XRCC1 +OMIM:194360 skos:exactMatch HGNC_symbol:XRCC1 Unspecified XRCC1 +OMIM:194360 skos:exactMatch UMLS:C1366475 Unspecified XRCC1 +OMIM:590045 skos:exactMatch UMLS:C1538005 Unspecified MTTI +OMIM:590045 skos:exactMatch HGNC_symbol:MT-TI Unspecified MTTI +OMIM:590045 skos:exactMatch HGNC:7488 Unspecified MTTI +OMIM:206800 skos:exactMatch UMLS:C3277900 Unspecified nail disorder, nonsyndromic congenital, 4 +OMIM:590040 skos:exactMatch HGNC_symbol:MT-TH Unspecified MTTH +OMIM:590040 skos:exactMatch HGNC:7487 Unspecified MTTH +OMIM:590040 skos:exactMatch UMLS:C1538004 Unspecified MTTH +OMIM:121350 skos:exactMatch UMLS:C1852561 Unspecified coracoclavicular joint, anomalous +OMIM:590035 skos:exactMatch HGNC:7486 Unspecified MTTG +OMIM:590035 skos:exactMatch UMLS:C1538003 Unspecified MTTG +OMIM:590035 skos:exactMatch HGNC_symbol:MT-TG Unspecified MTTG +OMIM:108390 skos:exactMatch UMLS:C1862460 Unspecified asparagus, specific smell hypersensitivity +OMIM:590030 skos:exactMatch UMLS:C1538011 Unspecified MTTQ +OMIM:590030 skos:exactMatch HGNC_symbol:MT-TQ Unspecified MTTQ +OMIM:590030 skos:exactMatch HGNC:7495 Unspecified MTTQ +OMIM:108361 skos:exactMatch HGNC_symbol:ASGR2 Unspecified ASGR2 +OMIM:108361 skos:exactMatch HGNC:743 Unspecified ASGR2 +OMIM:108361 skos:exactMatch UMLS:C1412579 Unspecified ASGR2 +OMIM:590065 skos:exactMatch HGNC_symbol:MT-TM Unspecified MTTM +OMIM:590065 skos:exactMatch HGNC:7492 Unspecified MTTM +OMIM:590065 skos:exactMatch UMLS:C1538008 Unspecified MTTM +OMIM:108360 skos:exactMatch HGNC_symbol:ASGR1 Unspecified ASGR1 +OMIM:108360 skos:exactMatch HGNC:742 Unspecified ASGR1 +OMIM:108360 skos:exactMatch UMLS:C1412578 Unspecified ASGR1 +OMIM:590060 skos:exactMatch HGNC:7489 Unspecified MTTK +OMIM:590060 skos:exactMatch UMLS:C1538006 Unspecified MTTK +OMIM:590060 skos:exactMatch HGNC_symbol:MT-TK Unspecified MTTK +OMIM:218800 skos:exactMatch UMLS:C0010324 Unspecified crigler-najjar syndrome, iia 1 +OMIM:123996 skos:exactMatch HGNC:2288 Unspecified COX7A2 +OMIM:123996 skos:exactMatch HGNC_symbol:COX7A2 Unspecified COX7A2 +OMIM:123996 skos:exactMatch UMLS:C1413656 Unspecified COX7A2 +OMIM:123995 skos:exactMatch HGNC:2287 Unspecified COX7A1 +OMIM:123995 skos:exactMatch HGNC_symbol:COX7A1 Unspecified COX7A1 +OMIM:123995 skos:exactMatch UMLS:C1413655 Unspecified COX7A1 +OMIM:123997 skos:exactMatch HGNC:2290 Unspecified cytochrome c oxidase, subunit 7a2, pseudogene 2 +OMIM:123997 skos:exactMatch HGNC_symbol:COX7A2P2 Unspecified cytochrome c oxidase, subunit 7a2, pseudogene 2 +OMIM:123997 skos:exactMatch UMLS:C4082982 Unspecified cytochrome c oxidase, subunit 7a2, pseudogene 2 +OMIM:590055 skos:exactMatch HGNC_symbol:MT-TL2 Unspecified MTTL2 +OMIM:590055 skos:exactMatch UMLS:C1838813 Unspecified MTTL2 +OMIM:590055 skos:exactMatch HGNC:7491 Unspecified MTTL2 +OMIM:108370 skos:exactMatch HGNC_symbol:ASNS Unspecified ASNS +OMIM:108370 skos:exactMatch HGNC:753 Unspecified ASNS +OMIM:108370 skos:exactMatch UMLS:C3809971 Unspecified ASNS +OMIM:108370 skos:exactMatch UMLS:C1412588 Unspecified ASNS +OMIM:590050 skos:exactMatch UMLS:C1417474 Unspecified MTTL1 +OMIM:590050 skos:exactMatch HGNC:7490 Unspecified MTTL1 +OMIM:590050 skos:exactMatch HGNC_symbol:MT-TL1 Unspecified MTTL1 +OMIM:123980 skos:exactMatch HGNC:2579 Unspecified CYC1 +OMIM:123980 skos:exactMatch UMLS:C1413845 Unspecified CYC1 +OMIM:123980 skos:exactMatch HGNC_symbol:CYC1 Unspecified CYC1 +OMIM:108340 skos:exactMatch UMLS:C1862463 Unspecified aryl hydrocarbon hydroxylase inducibility +OMIM:590080 skos:exactMatch HGNC:7497 Unspecified MTTS1 +OMIM:590080 skos:exactMatch UMLS:C1538013 Unspecified MTTS1 +OMIM:590080 skos:exactMatch HGNC_symbol:MT-TS1 Unspecified MTTS1 +OMIM:590085 skos:exactMatch HGNC:7498 Unspecified MTTS2 +OMIM:590085 skos:exactMatch UMLS:C1538014 Unspecified MTTS2 +OMIM:590085 skos:exactMatch HGNC_symbol:MT-TS2 Unspecified MTTS2 +OMIM:123970 skos:exactMatch HGNC:19986 Unspecified CYCS +OMIM:123970 skos:exactMatch UMLS:C1426584 Unspecified CYCS +OMIM:123970 skos:exactMatch HGNC_symbol:CYCS Unspecified CYCS +OMIM:108355 skos:exactMatch UMLS:C1333707 Unspecified GRB2 +OMIM:108355 skos:exactMatch HGNC:4566 Unspecified GRB2 +OMIM:108355 skos:exactMatch HGNC_symbol:GRB2 Unspecified GRB2 +OMIM:590070 skos:exactMatch HGNC:7481 Unspecified MTTF +OMIM:590070 skos:exactMatch UMLS:C1538002 Unspecified MTTF +OMIM:590070 skos:exactMatch HGNC_symbol:MT-TF Unspecified MTTF +OMIM:590075 skos:exactMatch HGNC:7494 Unspecified MTTP +OMIM:590075 skos:exactMatch UMLS:C1538010 Unspecified MTTP +OMIM:590075 skos:exactMatch HGNC_symbol:MT-TP Unspecified MTTP +OMIM:108345 skos:exactMatch HGNC:7645 Unspecified NAT1 +OMIM:108345 skos:exactMatch HGNC_symbol:NAT1 Unspecified NAT1 +OMIM:108345 skos:exactMatch UMLS:C1417602 Unspecified NAT1 +OMIM:121300 skos:exactMatch UMLS:C0162531 Unspecified coproporphyria, hereditary +OMIM:121300 skos:exactMatch ORPHA:79273 Unspecified coproporphyria, hereditary +OMIM:108320 skos:exactMatch UMLS:C1862464 Unspecified artichoke, modification of taste by +OMIM:108330 skos:exactMatch UMLS:C0919425 Unspecified CYP1A1 +OMIM:108330 skos:exactMatch HGNC:2595 Unspecified CYP1A1 +OMIM:108330 skos:exactMatch HGNC_symbol:CYP1A1 Unspecified CYP1A1 +OMIM:590090 skos:exactMatch HGNC:7499 Unspecified MTTT +OMIM:590090 skos:exactMatch UMLS:C1538015 Unspecified MTTT +OMIM:590090 skos:exactMatch HGNC_symbol:MT-TT Unspecified MTTT +OMIM:590095 skos:exactMatch HGNC:7501 Unspecified MTTW +OMIM:590095 skos:exactMatch UMLS:C1538017 Unspecified MTTW +OMIM:590095 skos:exactMatch HGNC_symbol:MT-TW Unspecified MTTW +OMIM:277180 skos:exactMatch ORPHA:48 Unspecified vas deferens, congenital bilateral aplasia of +OMIM:277180 skos:exactMatch UMLS:C5393224 Unspecified vas deferens, congenital bilateral aplasia of +OMIM:277180 skos:exactMatch UMLS:C0403814 Unspecified vas deferens, congenital bilateral aplasia of +OMIM:277175 skos:exactMatch UMLS:C1848590 Unspecified vascular hyalinosis +OMIM:123940 skos:exactMatch HGNC:6441 Unspecified KRT4 +OMIM:123940 skos:exactMatch HGNC_symbol:KRT4 Unspecified KRT4 +OMIM:123940 skos:exactMatch UMLS:C1416741 Unspecified KRT4 +OMIM:602510 skos:exactMatch UMLS:C1419116 Unspecified PTPRH +OMIM:602510 skos:exactMatch HGNC_symbol:PTPRH Unspecified PTPRH +OMIM:602510 skos:exactMatch HGNC:9672 Unspecified PTPRH +OMIM:602511 skos:exactMatch UMLS:C1865284 Unspecified pseudoacromegaly with severe insulin resistance +OMIM:602512 skos:exactMatch HGNC:9994 Unspecified RGS12 +OMIM:602512 skos:exactMatch UMLS:C1419370 Unspecified RGS12 +OMIM:602512 skos:exactMatch HGNC_symbol:RGS12 Unspecified RGS12 +OMIM:602513 skos:exactMatch HGNC:9996 Unspecified RGS14 +OMIM:602513 skos:exactMatch UMLS:C1419372 Unspecified RGS14 +OMIM:602513 skos:exactMatch HGNC_symbol:RGS14 Unspecified RGS14 +OMIM:108420 skos:exactMatch UMLS:C1862459 Unspecified spermatogenic failure 2 +OMIM:602514 skos:exactMatch HGNC:9997 Unspecified RGS16 +OMIM:602514 skos:exactMatch UMLS:C1419373 Unspecified RGS16 +OMIM:602514 skos:exactMatch HGNC_symbol:RGS16 Unspecified RGS16 +OMIM:602515 skos:exactMatch HGNC_symbol:GPLD1 Unspecified GPLD1 +OMIM:602515 skos:exactMatch HGNC:4459 Unspecified GPLD1 +OMIM:602515 skos:exactMatch UMLS:C1415202 Unspecified GPLD1 +OMIM:602516 skos:exactMatch HGNC_symbol:RGS4 Unspecified RGS4 +OMIM:602516 skos:exactMatch UMLS:C1419374 Unspecified RGS4 +OMIM:602516 skos:exactMatch HGNC:10000 Unspecified RGS4 +OMIM:602517 skos:exactMatch HGNC_symbol:RGS7 Unspecified RGS7 +OMIM:602517 skos:exactMatch UMLS:C1419377 Unspecified RGS7 +OMIM:602517 skos:exactMatch HGNC:10003 Unspecified RGS7 +OMIM:602518 skos:exactMatch HGNC:6565 Unspecified LGALS4 +OMIM:602518 skos:exactMatch HGNC_symbol:LGALS4 Unspecified LGALS4 +OMIM:602518 skos:exactMatch UMLS:C1416832 Unspecified LGALS4 +OMIM:602519 skos:exactMatch HGNC_symbol:USP7 Unspecified USP7 +OMIM:602519 skos:exactMatch HGNC:12630 Unspecified USP7 +OMIM:602519 skos:exactMatch UMLS:C5393908 Unspecified USP7 +OMIM:602519 skos:exactMatch UMLS:C1421408 Unspecified USP7 +OMIM:277170 skos:exactMatch UMLS:C2745997 Unspecified orofaciodigital syndrome 6 +OMIM:314560 skos:exactMatch UMLS:C1839113 Unspecified von willebrand disease, X-linked form +OMIM:147900 skos:exactMatch UMLS:C0268349 Unspecified joint laxity, familial +OMIM:602500 skos:exactMatch HGNC_symbol:GOLGB1 Unspecified GOLGB1 +OMIM:602500 skos:exactMatch HGNC:4429 Unspecified GOLGB1 +OMIM:602500 skos:exactMatch UMLS:C1415178 Unspecified GOLGB1 +OMIM:602501 skos:exactMatch ORPHA:60040 Unspecified megalencephaly-capillary malformation-polymicrogyria syndrome +OMIM:602501 skos:exactMatch UMLS:C1865285 Unspecified megalencephaly-capillary malformation-polymicrogyria syndrome +OMIM:602502 skos:exactMatch HGNC_symbol:GOLGA1 Unspecified GOLGA1 +OMIM:602502 skos:exactMatch HGNC:4424 Unspecified GOLGA1 +OMIM:602502 skos:exactMatch UMLS:C1415173 Unspecified GOLGA1 +OMIM:602503 skos:exactMatch HGNC_symbol:FRAT1 Unspecified FRAT1 +OMIM:602503 skos:exactMatch UMLS:C1333576 Unspecified FRAT1 +OMIM:602503 skos:exactMatch HGNC:3944 Unspecified FRAT1 +OMIM:602504 skos:exactMatch UMLS:C1420042 Unspecified SHOX2 +OMIM:602504 skos:exactMatch HGNC_symbol:SHOX2 Unspecified SHOX2 +OMIM:602504 skos:exactMatch HGNC:10854 Unspecified SHOX2 +OMIM:602505 skos:exactMatch HGNC:9718 Unspecified PXN +OMIM:602505 skos:exactMatch HGNC_symbol:PXN Unspecified PXN +OMIM:602505 skos:exactMatch UMLS:C1419150 Unspecified PXN +OMIM:602507 skos:exactMatch HGNC:12859 Unspecified RNF103 +OMIM:602507 skos:exactMatch HGNC_symbol:RNF103 Unspecified RNF103 +OMIM:602507 skos:exactMatch UMLS:C1421568 Unspecified RNF103 +OMIM:602508 skos:exactMatch HGNC:8575 Unspecified PAFAH1B2 +OMIM:602508 skos:exactMatch UMLS:C1418246 Unspecified PAFAH1B2 +OMIM:602508 skos:exactMatch HGNC_symbol:PAFAH1B2 Unspecified PAFAH1B2 +OMIM:602509 skos:exactMatch HGNC_symbol:GOLGA4 Unspecified GOLGA4 +OMIM:602509 skos:exactMatch HGNC:4427 Unspecified GOLGA4 +OMIM:602509 skos:exactMatch UMLS:C1415176 Unspecified GOLGA4 +OMIM:314570 skos:exactMatch UMLS:C1839112 Unspecified widow's peak syndrome +OMIM:147910 skos:exactMatch HGNC_symbol:KLK1 Unspecified KLK1 +OMIM:147910 skos:exactMatch HGNC:6357 Unspecified KLK1 +OMIM:147910 skos:exactMatch UMLS:C1416669 Unspecified KLK1 +OMIM:135940 skos:exactMatch HGNC:3748 Unspecified FLG +OMIM:135940 skos:exactMatch HGNC_symbol:FLG Unspecified FLG +OMIM:135940 skos:exactMatch UMLS:C1414633 Unspecified FLG +OMIM:590100 skos:exactMatch HGNC:7502 Unspecified MTTY +OMIM:590100 skos:exactMatch UMLS:C1538018 Unspecified MTTY +OMIM:590100 skos:exactMatch HGNC_symbol:MT-TY Unspecified MTTY +OMIM:590105 skos:exactMatch HGNC_symbol:MT-TV Unspecified MTTV +OMIM:590105 skos:exactMatch UMLS:C0023264 Unspecified MTTV +OMIM:590105 skos:exactMatch UMLS:C5435765 Unspecified MTTV +OMIM:590105 skos:exactMatch HGNC:7500 Unspecified MTTV +OMIM:590105 skos:exactMatch UMLS:C1538016 Unspecified MTTV +OMIM:590105 skos:exactMatch UMLS:C4016634 Unspecified MTTV +OMIM:277150 skos:exactMatch UMLS:C1848598 Unspecified van bogaert-hozay syndrome +OMIM:147920 skos:exactMatch UMLS:C0796004 Unspecified kabuki syndrome 1 +OMIM:160900 skos:exactMatch UMLS:C3250443 Unspecified myotonic dystrophy 1 +OMIM:160900 skos:exactMatch ORPHA:273 Unspecified myotonic dystrophy 1 +OMIM:135950 skos:exactMatch UMLS:C1851081 Unspecified finger locking, recurrent, with intrauterine growth retardation and proportionate short stature +OMIM:265150 skos:exactMatch UMLS:C0344975 Unspecified pulmonary atresia with intact ventricular septum +OMIM:108410 skos:exactMatch UMLS:C1384524 Unspecified NARS1 +OMIM:108410 skos:exactMatch UMLS:C5436783 Unspecified NARS1 +OMIM:108410 skos:exactMatch UMLS:C5436788 Unspecified NARS1 +OMIM:108410 skos:exactMatch HGNC_symbol:NARS1 Unspecified NARS1 +OMIM:108410 skos:exactMatch HGNC:7643 Unspecified NARS1 +OMIM:159900 skos:exactMatch UMLS:C1834570 Unspecified dystonia 11, myoclonic +OMIM:159900 skos:exactMatch ORPHA:36899 Unspecified dystonia 11, myoclonic +OMIM:314550 skos:exactMatch UMLS:C1839114 Unspecified vesicoureteral reflux, X-linked +OMIM:147935 skos:exactMatch HGNC:8948 Unspecified SERPINA4 +OMIM:147935 skos:exactMatch UMLS:C1418550 Unspecified SERPINA4 +OMIM:147935 skos:exactMatch HGNC_symbol:SERPINA4 Unspecified SERPINA4 +OMIM:602553 skos:exactMatch UMLS:C1865208 Unspecified anal atresia, hypospadias, and penoscrotal inversion +OMIM:602554 skos:exactMatch UMLS:C1865205 Unspecified torsion dystonia with onset 1n infancy +OMIM:602555 skos:exactMatch UMLS:C1865204 Unspecified microcephaly, macrotia, and mental retardation +OMIM:265140 skos:exactMatch UMLS:C0155675 Unspecified pulmonary arteriovenous fistulas +OMIM:602556 skos:exactMatch UMLS:C1865203 Unspecified facial dysmorphism, cleft palate, hearing loss, and camptodactyly +OMIM:602557 skos:exactMatch UMLS:C1865185 Unspecified spondyloepimetaphyseal dysplasia, shohat iia +OMIM:602557 skos:exactMatch ORPHA:93352 Unspecified spondyloepimetaphyseal dysplasia, shohat iia +OMIM:133300 skos:exactMatch UMLS:C1851475 Unspecified esterase es-2, regulator for +OMIM:602558 skos:exactMatch UMLS:C1865184 Unspecified craniomicromelic syndrome +OMIM:602559 skos:exactMatch HGNC:12825 Unspecified XPO1 +OMIM:602559 skos:exactMatch UMLS:C1421544 Unspecified XPO1 +OMIM:602559 skos:exactMatch HGNC_symbol:XPO1 Unspecified XPO1 +OMIM:614539 skos:exactMatch HGNC_symbol:HELB Unspecified HELB +OMIM:614539 skos:exactMatch UMLS:C1424812 Unspecified HELB +OMIM:614539 skos:exactMatch HGNC:17196 Unspecified HELB +OMIM:172900 skos:exactMatch UMLS:C0406515 Unspecified pigmented purpuric eruption +OMIM:614538 skos:exactMatch UMLS:C1826149 Unspecified MIR570 +OMIM:614538 skos:exactMatch HGNC_symbol:MIR570 Unspecified MIR570 +OMIM:614538 skos:exactMatch HGNC:32826 Unspecified MIR570 +OMIM:614537 skos:exactMatch HGNC_symbol:LRMDA Unspecified LRMDA +OMIM:614537 skos:exactMatch HGNC:23405 Unspecified LRMDA +OMIM:614537 skos:exactMatch UMLS:C1428073 Unspecified LRMDA +OMIM:614536 skos:exactMatch HGNC_symbol:SWSAP1 Unspecified SWSAP1 +OMIM:614536 skos:exactMatch UMLS:C1824480 Unspecified SWSAP1 +OMIM:614536 skos:exactMatch HGNC:26638 Unspecified SWSAP1 +OMIM:614535 skos:exactMatch UMLS:C2240224 Unspecified ZSWIM7 +OMIM:614535 skos:exactMatch HGNC_symbol:ZSWIM7 Unspecified ZSWIM7 +OMIM:614535 skos:exactMatch HGNC:26993 Unspecified ZSWIM7 +OMIM:614534 skos:exactMatch UMLS:C1422660 Unspecified ANAPC11 +OMIM:614534 skos:exactMatch HGNC:14452 Unspecified ANAPC11 +OMIM:614534 skos:exactMatch HGNC_symbol:ANAPC11 Unspecified ANAPC11 +OMIM:614533 skos:exactMatch HGNC:17839 Unspecified CDC26 +OMIM:614533 skos:exactMatch UMLS:C1425120 Unspecified CDC26 +OMIM:614533 skos:exactMatch HGNC_symbol:CDC26 Unspecified CDC26 +OMIM:614532 skos:exactMatch HGNC:24881 Unspecified RASGEF1B +OMIM:614532 skos:exactMatch UMLS:C1428423 Unspecified RASGEF1B +OMIM:614532 skos:exactMatch HGNC_symbol:RASGEF1B Unspecified RASGEF1B +OMIM:614542 skos:exactMatch UMLS:C1825130 Unspecified FAM69A +OMIM:614542 skos:exactMatch HGNC:32213 Unspecified FAM69A +OMIM:614542 skos:exactMatch HGNC_symbol:DIPK1A Unspecified FAM69A +OMIM:614541 skos:exactMatch UMLS:C3281152 Unspecified chromosome 16q22 deletion syndrome +OMIM:147940 skos:exactMatch UMLS:C1415831 Unspecified IAPP +OMIM:147940 skos:exactMatch HGNC_symbol:IAPP Unspecified IAPP +OMIM:147940 skos:exactMatch HGNC:5329 Unspecified IAPP +OMIM:602560 skos:exactMatch UMLS:C1865183 Unspecified None +OMIM:602561 skos:exactMatch UMLS:C1865182 Unspecified brachydactyly, intraventricular septal defect, and deafness +OMIM:602562 skos:exactMatch UMLS:C1865181 Unspecified mandibulofacial dysostosis with macroblepharon and macrostomia +OMIM:602563 skos:exactMatch UMLS:C1417738 Unspecified NKX6-1 +OMIM:602563 skos:exactMatch HGNC_symbol:NKX6-1 Unspecified NKX6-1 +OMIM:602563 skos:exactMatch HGNC:7839 Unspecified NKX6-1 +OMIM:602542 skos:exactMatch HGNC_symbol:BTF3 Unspecified BTF3 +OMIM:602542 skos:exactMatch HGNC:1125 Unspecified BTF3 +OMIM:602542 skos:exactMatch UMLS:C1412835 Unspecified BTF3 +OMIM:602543 skos:exactMatch HGNC:1126 Unspecified BTF3P11 +OMIM:602543 skos:exactMatch HGNC_symbol:BTF3P11 Unspecified BTF3P11 +OMIM:602543 skos:exactMatch UMLS:C1412836 Unspecified BTF3P11 +OMIM:602544 skos:exactMatch UMLS:C1418270 Unspecified PARK2 +OMIM:602544 skos:exactMatch UMLS:C1868675 Unspecified PARK2 +OMIM:602544 skos:exactMatch HGNC_symbol:PRKN Unspecified PARK2 +OMIM:602544 skos:exactMatch UMLS:C3838632 Unspecified PARK2 +OMIM:602544 skos:exactMatch UMLS:C1969537 Unspecified PARK2 +OMIM:602544 skos:exactMatch HGNC:8607 Unspecified PARK2 +OMIM:602545 skos:exactMatch HGNC_symbol:PTPRK Unspecified PTPRK +OMIM:602545 skos:exactMatch HGNC:9674 Unspecified PTPRK +OMIM:602545 skos:exactMatch UMLS:C1419117 Unspecified PTPRK +OMIM:602546 skos:exactMatch UMLS:C1539874 Unspecified ST8SIA2 +OMIM:602546 skos:exactMatch HGNC:10870 Unspecified ST8SIA2 +OMIM:602546 skos:exactMatch HGNC_symbol:ST8SIA2 Unspecified ST8SIA2 +OMIM:602547 skos:exactMatch UMLS:C1539876 Unspecified ST8SIA4 +OMIM:602547 skos:exactMatch HGNC:10871 Unspecified ST8SIA4 +OMIM:602547 skos:exactMatch HGNC_symbol:ST8SIA4 Unspecified ST8SIA4 +OMIM:602548 skos:exactMatch HGNC_symbol:OPRL1 Unspecified OPRL1 +OMIM:602548 skos:exactMatch UMLS:C1417964 Unspecified OPRL1 +OMIM:602548 skos:exactMatch HGNC:8155 Unspecified OPRL1 +OMIM:602549 skos:exactMatch UMLS:C1538660 Unspecified PKN2 +OMIM:602549 skos:exactMatch HGNC_symbol:PKN2 Unspecified PKN2 +OMIM:602549 skos:exactMatch HGNC:9406 Unspecified PKN2 +OMIM:614529 skos:exactMatch UMLS:C3281140 Unspecified HIF1AAS2 +OMIM:614529 skos:exactMatch HGNC:43015 Unspecified HIF1AAS2 +OMIM:614529 skos:exactMatch HGNC_symbol:HIF1A-AS2 Unspecified HIF1AAS2 +OMIM:614528 skos:exactMatch UMLS:C3281139 Unspecified HIF1AAS1 +OMIM:614528 skos:exactMatch HGNC:43014 Unspecified HIF1AAS1 +OMIM:614528 skos:exactMatch HGNC_symbol:HIF1A-AS1 Unspecified HIF1AAS1 +OMIM:614527 skos:exactMatch UMLS:C3281138 Unspecified chromosome 17q12 deletion syndrome +OMIM:614526 skos:exactMatch UMLS:C3281137 Unspecified chromosome 17q12 duplication syndrome +OMIM:614525 skos:exactMatch UMLS:C1538056 Unspecified NFATC2IP +OMIM:614525 skos:exactMatch HGNC:25906 Unspecified NFATC2IP +OMIM:614525 skos:exactMatch HGNC_symbol:NFATC2IP Unspecified NFATC2IP +OMIM:614524 skos:exactMatch UMLS:C3281128 Unspecified fibrochondrogenesis 2 +OMIM:614523 skos:exactMatch UMLS:C1826043 Unspecified MIR489 +OMIM:614523 skos:exactMatch HGNC_symbol:MIR489 Unspecified MIR489 +OMIM:614523 skos:exactMatch HGNC:32074 Unspecified MIR489 +OMIM:614522 skos:exactMatch HGNC:19360 Unspecified KLHL12 +OMIM:614522 skos:exactMatch HGNC_symbol:KLHL12 Unspecified KLHL12 +OMIM:614522 skos:exactMatch UMLS:C1426191 Unspecified KLHL12 +OMIM:614521 skos:exactMatch UMLS:C3281125 Unspecified thrombocythemia 3 +OMIM:614531 skos:exactMatch UMLS:C1428364 Unspecified RASGEF1A +OMIM:614531 skos:exactMatch HGNC_symbol:RASGEF1A Unspecified RASGEF1A +OMIM:614531 skos:exactMatch HGNC:24246 Unspecified RASGEF1A +OMIM:614530 skos:exactMatch UMLS:C1826391 Unspecified NDUFA12 +OMIM:614530 skos:exactMatch HGNC:23987 Unspecified NDUFA12 +OMIM:614530 skos:exactMatch HGNC_symbol:NDUFA12 Unspecified NDUFA12 +OMIM:147950 skos:exactMatch UMLS:C1563720 Unspecified hypogonadotropic hypogonadism 2 with or without anosmia +OMIM:147950 skos:exactMatch ORPHA:432 Unspecified hypogonadotropic hypogonadism 2 with or without anosmia +OMIM:147950 skos:exactMatch ORPHA:478 Unspecified hypogonadotropic hypogonadism 2 with or without anosmia +OMIM:184900 skos:exactMatch UMLS:C1861456 Unspecified stiff skin syndrome +OMIM:602550 skos:exactMatch HGNC:701 Unspecified ARNTL +OMIM:602550 skos:exactMatch HGNC_symbol:ARNTL Unspecified ARNTL +OMIM:602550 skos:exactMatch UMLS:C1412544 Unspecified ARNTL +OMIM:602551 skos:exactMatch UMLS:C1865209 Unspecified jejunal atresia with renal adysplasia +OMIM:602552 skos:exactMatch HGNC_symbol:NUP88 Unspecified NUP88 +OMIM:602552 skos:exactMatch UMLS:C1417896 Unspecified NUP88 +OMIM:602552 skos:exactMatch HGNC:8067 Unspecified NUP88 +OMIM:265120 skos:exactMatch UMLS:C1968602 Unspecified surfactant metabolism dysfunction, pulmonary, 1 +OMIM:602531 skos:exactMatch ORPHA:79094 Unspecified grange syndrome +OMIM:602531 skos:exactMatch UMLS:C1865267 Unspecified grange syndrome +OMIM:602532 skos:exactMatch HGNC_symbol:RNF217-AS1 Unspecified RNF217AS1 +OMIM:602532 skos:exactMatch UMLS:C1865266 Unspecified RNF217AS1 +OMIM:602532 skos:exactMatch HGNC:50866 Unspecified RNF217AS1 +OMIM:602533 skos:exactMatch HGNC_symbol:PARK7 Unspecified DJ1 +OMIM:602533 skos:exactMatch HGNC:16369 Unspecified DJ1 +OMIM:602533 skos:exactMatch UMLS:C1424222 Unspecified DJ1 +OMIM:602534 skos:exactMatch HGNC_symbol:SNAP23 Unspecified SNAP23 +OMIM:602534 skos:exactMatch HGNC:11131 Unspecified SNAP23 +OMIM:602534 skos:exactMatch UMLS:C1420269 Unspecified SNAP23 +OMIM:602535 skos:exactMatch UMLS:C0265211 Unspecified marshall-smith syndrome +OMIM:602535 skos:exactMatch ORPHA:561 Unspecified marshall-smith syndrome +OMIM:602536 skos:exactMatch UMLS:C1826756 Unspecified RAB3GAP1 +OMIM:602536 skos:exactMatch HGNC:17063 Unspecified RAB3GAP1 +OMIM:602536 skos:exactMatch HGNC_symbol:RAB3GAP1 Unspecified RAB3GAP1 +OMIM:602537 skos:exactMatch HGNC_symbol:CAPN5 Unspecified CAPN5 +OMIM:602537 skos:exactMatch HGNC:1482 Unspecified CAPN5 +OMIM:602537 skos:exactMatch UMLS:C1413115 Unspecified CAPN5 +OMIM:159950 skos:exactMatch UMLS:C1834569 Unspecified spinal muscular atrophy with progressive myoclonic epilepsy +OMIM:614519 skos:exactMatch UMLS:C3281105 Unspecified hemorrhage, intracerebral, susceptibility to +OMIM:241150 skos:exactMatch UMLS:C0268444 Unspecified hypokalemic alkalosis, familial, with specific renal tubulopathy +OMIM:614518 skos:exactMatch HGNC_symbol:GATAD1 Unspecified GATAD1 +OMIM:614518 skos:exactMatch UMLS:C1539551 Unspecified GATAD1 +OMIM:614518 skos:exactMatch HGNC:29941 Unspecified GATAD1 +OMIM:602538 skos:exactMatch HGNC_symbol:CELF2 Unspecified CELF2 +OMIM:602538 skos:exactMatch UMLS:C1413825 Unspecified CELF2 +OMIM:602538 skos:exactMatch HGNC:2550 Unspecified CELF2 +OMIM:614517 skos:exactMatch HGNC_symbol:ARNTL2 Unspecified ARNTL2 +OMIM:614517 skos:exactMatch UMLS:C1425931 Unspecified ARNTL2 +OMIM:614517 skos:exactMatch HGNC:18984 Unspecified ARNTL2 +OMIM:602539 skos:exactMatch UMLS:C1442513 Unspecified MAP3K3 +OMIM:602539 skos:exactMatch HGNC:6855 Unspecified MAP3K3 +OMIM:602539 skos:exactMatch HGNC_symbol:MAP3K3 Unspecified MAP3K3 +OMIM:614516 skos:exactMatch HGNC_symbol:DOLPP1 Unspecified DOLPP1 +OMIM:614516 skos:exactMatch HGNC:29565 Unspecified DOLPP1 +OMIM:614516 skos:exactMatch UMLS:C1428875 Unspecified DOLPP1 +OMIM:614515 skos:exactMatch HGNC_symbol:GPR179 Unspecified GPR179 +OMIM:614515 skos:exactMatch UMLS:C1825411 Unspecified GPR179 +OMIM:614515 skos:exactMatch HGNC:31371 Unspecified GPR179 +OMIM:614514 skos:exactMatch UMLS:C3281092 Unspecified thrombophilia due to protein s deficiency, autosomal recessive +OMIM:614513 skos:exactMatch HGNC:24055 Unspecified TOR1AIP2 +OMIM:614513 skos:exactMatch UMLS:C1823465 Unspecified TOR1AIP2 +OMIM:614513 skos:exactMatch HGNC_symbol:TOR1AIP2 Unspecified TOR1AIP2 +OMIM:614512 skos:exactMatch HGNC:29456 Unspecified TOR1AIP1 +OMIM:614512 skos:exactMatch UMLS:C1823464 Unspecified TOR1AIP1 +OMIM:614512 skos:exactMatch HGNC_symbol:TOR1AIP1 Unspecified TOR1AIP1 +OMIM:314580 skos:exactMatch UMLS:C0796200 Unspecified wieacker-wolff syndrome +OMIM:314580 skos:exactMatch ORPHA:3454 Unspecified wieacker-wolff syndrome +OMIM:314580 skos:exactMatch ORPHA:85283 Unspecified wieacker-wolff syndrome +OMIM:314580 skos:exactMatch UMLS:C1839735 Unspecified wieacker-wolff syndrome +OMIM:614511 skos:exactMatch UMLS:C1537673 Unspecified MDFIC +OMIM:614511 skos:exactMatch HGNC:28870 Unspecified MDFIC +OMIM:614511 skos:exactMatch HGNC_symbol:MDFIC Unspecified MDFIC +OMIM:614510 skos:exactMatch UMLS:C1537755 Unspecified MIR99B +OMIM:614510 skos:exactMatch HGNC_symbol:MIR99B Unspecified MIR99B +OMIM:614510 skos:exactMatch HGNC:31651 Unspecified MIR99B +OMIM:614520 skos:exactMatch UMLS:C3281106 Unspecified encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency +OMIM:145300 skos:exactMatch UMLS:C1840386 Unspecified hypersensitivity pneumonitis, familial +OMIM:277100 skos:exactMatch UMLS:C0268573 Unspecified valinemia +OMIM:147960 skos:exactMatch UMLS:C1334308 Unspecified KLK2 +OMIM:147960 skos:exactMatch HGNC_symbol:KLK2 Unspecified KLK2 +OMIM:147960 skos:exactMatch HGNC:6363 Unspecified KLK2 +OMIM:602540 skos:exactMatch ORPHA:477 Unspecified ichthyosis, hystrix-like, with deafness +OMIM:602540 skos:exactMatch UMLS:C1865234 Unspecified ichthyosis, hystrix-like, with deafness +OMIM:602541 skos:exactMatch UMLS:C1865233 Unspecified muscular dystrophy, congenital, megaconial iia +OMIM:602520 skos:exactMatch HGNC:6845 Unspecified MAP2K5 +OMIM:602520 skos:exactMatch HGNC_symbol:MAP2K5 Unspecified MAP2K5 +OMIM:602520 skos:exactMatch UMLS:C1442512 Unspecified MAP2K5 +OMIM:602521 skos:exactMatch HGNC:6880 Unspecified MAPK7 +OMIM:602521 skos:exactMatch HGNC_symbol:MAPK7 Unspecified MAPK7 +OMIM:602521 skos:exactMatch UMLS:C1334481 Unspecified MAPK7 +OMIM:602522 skos:exactMatch UMLS:C2748440 Unspecified bartter syndrome, iia 4a, neonatal, with sensorineural deafness +OMIM:602522 skos:exactMatch UMLS:C1865270 Unspecified bartter syndrome, iia 4a, neonatal, with sensorineural deafness +OMIM:602523 skos:exactMatch HGNC:3039 Unspecified DSCAM +OMIM:602523 skos:exactMatch HGNC_symbol:DSCAM Unspecified DSCAM +OMIM:602523 skos:exactMatch UMLS:C1414159 Unspecified DSCAM +OMIM:602524 skos:exactMatch HGNC:8809 Unspecified PDK1 +OMIM:602524 skos:exactMatch HGNC_symbol:PDK1 Unspecified PDK1 +OMIM:602524 skos:exactMatch UMLS:C1418440 Unspecified PDK1 +OMIM:602525 skos:exactMatch HGNC:8810 Unspecified PDK2 +OMIM:602525 skos:exactMatch HGNC_symbol:PDK2 Unspecified PDK2 +OMIM:602525 skos:exactMatch UMLS:C1418441 Unspecified PDK2 +OMIM:614509 skos:exactMatch HGNC:31650 Unspecified MIR99A +OMIM:614509 skos:exactMatch UMLS:C1537754 Unspecified MIR99A +OMIM:614509 skos:exactMatch HGNC_symbol:MIR99A Unspecified MIR99A +OMIM:614508 skos:exactMatch UMLS:C3281089 Unspecified mirror movements 2 +OMIM:614507 skos:exactMatch UMLS:C3281084 Unspecified congenital disorder of glycosylation, iia ir +OMIM:602527 skos:exactMatch HGNC:8812 Unspecified PDK4 +OMIM:602527 skos:exactMatch HGNC_symbol:PDK4 Unspecified PDK4 +OMIM:602527 skos:exactMatch UMLS:C1418443 Unspecified PDK4 +OMIM:614506 skos:exactMatch HGNC_symbol:BRAT1 Unspecified BRAT1 +OMIM:614506 skos:exactMatch HGNC:21701 Unspecified BRAT1 +OMIM:614506 skos:exactMatch UMLS:C1427704 Unspecified BRAT1 +OMIM:602528 skos:exactMatch HGNC_symbol:TUBA3C Unspecified TUBA3C +OMIM:602528 skos:exactMatch HGNC:12408 Unspecified TUBA3C +OMIM:602528 skos:exactMatch UMLS:C1421227 Unspecified TUBA3C +OMIM:614505 skos:exactMatch UMLS:C1425657 Unspecified FKBP14 +OMIM:614505 skos:exactMatch HGNC_symbol:FKBP14 Unspecified FKBP14 +OMIM:614505 skos:exactMatch HGNC:18625 Unspecified FKBP14 +OMIM:602529 skos:exactMatch HGNC:20766 Unspecified TUBA1A +OMIM:602529 skos:exactMatch HGNC_symbol:TUBA1A Unspecified TUBA1A +OMIM:602529 skos:exactMatch UMLS:C1865269 Unspecified TUBA1A +OMIM:614504 skos:exactMatch UMLS:C3281066 Unspecified usher syndrome, iia 3b +OMIM:614503 skos:exactMatch HGNC:25573 Unspecified KLHDC8A +OMIM:614503 skos:exactMatch HGNC_symbol:KLHDC8A Unspecified KLHDC8A +OMIM:614503 skos:exactMatch UMLS:C1825722 Unspecified KLHDC8A +OMIM:614502 skos:exactMatch HGNC_symbol:PIERCE1 Unspecified PIERCE1 +OMIM:614502 skos:exactMatch UMLS:C1428708 Unspecified PIERCE1 +OMIM:614502 skos:exactMatch HGNC:28435 Unspecified PIERCE1 +OMIM:614501 skos:exactMatch UMLS:C3281055 Unspecified neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures +OMIM:614500 skos:exactMatch UMLS:C3281045 Unspecified cone-rod dystrophy 16 +OMIM:614500 skos:exactMatch UMLS:C3281046 Unspecified cone-rod dystrophy 16 +OMIM:602530 skos:exactMatch HGNC:18809 Unspecified TUBA1B +OMIM:602530 skos:exactMatch UMLS:C1865268 Unspecified TUBA1B +OMIM:602530 skos:exactMatch HGNC_symbol:TUBA1B Unspecified TUBA1B +OMIM:159970 skos:exactMatch HGNC:7611 Unspecified MYOD1 +OMIM:159970 skos:exactMatch UMLS:C1417574 Unspecified MYOD1 +OMIM:159970 skos:exactMatch UMLS:C5436530 Unspecified MYOD1 +OMIM:159970 skos:exactMatch HGNC_symbol:MYOD1 Unspecified MYOD1 +OMIM:602597 skos:exactMatch HGNC_symbol:BCL9 Unspecified BCL9 +OMIM:602597 skos:exactMatch UMLS:C1332402 Unspecified BCL9 +OMIM:602597 skos:exactMatch HGNC:1008 Unspecified BCL9 +OMIM:602598 skos:exactMatch HGNC:17890 Unspecified HPGDS +OMIM:602598 skos:exactMatch HGNC_symbol:HPGDS Unspecified HPGDS +OMIM:602598 skos:exactMatch UMLS:C1865138 Unspecified HPGDS +OMIM:265100 skos:exactMatch UMLS:C0155912 Unspecified pulmonary alveolar microlithiasis +OMIM:267760 skos:exactMatch UMLS:C2931831 Unspecified retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma +OMIM:614579 skos:exactMatch HGNC:30132 Unspecified PAQR6 +OMIM:614579 skos:exactMatch UMLS:C1538574 Unspecified PAQR6 +OMIM:614579 skos:exactMatch HGNC_symbol:PAQR6 Unspecified PAQR6 +OMIM:614578 skos:exactMatch HGNC:26386 Unspecified PAQR4 +OMIM:614578 skos:exactMatch UMLS:C1538573 Unspecified PAQR4 +OMIM:614578 skos:exactMatch HGNC_symbol:PAQR4 Unspecified PAQR4 +OMIM:614577 skos:exactMatch HGNC:30130 Unspecified PAQR3 +OMIM:614577 skos:exactMatch UMLS:C1538572 Unspecified PAQR3 +OMIM:614577 skos:exactMatch HGNC_symbol:PAQR3 Unspecified PAQR3 +OMIM:614576 skos:exactMatch UMLS:C3553230 Unspecified congenital disorder of glycosylation, iia iil +OMIM:614586 skos:exactMatch HGNC_symbol:ZDHHC5 Unspecified ZDHHC5 +OMIM:614586 skos:exactMatch UMLS:C1425537 Unspecified ZDHHC5 +OMIM:614586 skos:exactMatch HGNC:18472 Unspecified ZDHHC5 +OMIM:614585 skos:exactMatch UMLS:C2239449 Unspecified FDX2 +OMIM:614585 skos:exactMatch HGNC:30546 Unspecified FDX2 +OMIM:614585 skos:exactMatch HGNC_symbol:FDX2 Unspecified FDX2 +OMIM:614584 skos:exactMatch HGNC_symbol:P4HTM Unspecified P4HTM +OMIM:614584 skos:exactMatch HGNC:28858 Unspecified P4HTM +OMIM:614584 skos:exactMatch UMLS:C2678549 Unspecified P4HTM +OMIM:614583 skos:exactMatch UMLS:C3281235 Unspecified baraitser-winter syndrome 2 +OMIM:614582 skos:exactMatch UMLS:C3281234 Unspecified combined oxidative phosphorylation deficiency 9 +OMIM:614581 skos:exactMatch HGNC:30133 Unspecified MMD2 +OMIM:614581 skos:exactMatch UMLS:C1537927 Unspecified MMD2 +OMIM:614581 skos:exactMatch HGNC_symbol:MMD2 Unspecified MMD2 +OMIM:614580 skos:exactMatch HGNC:30131 Unspecified PAQR9 +OMIM:614580 skos:exactMatch UMLS:C1538575 Unspecified PAQR9 +OMIM:614580 skos:exactMatch HGNC_symbol:PAQR9 Unspecified PAQR9 +OMIM:267750 skos:exactMatch UMLS:C1849409 Unspecified knobloch syndrome 1 +OMIM:267750 skos:exactMatch UMLS:C4551775 Unspecified knobloch syndrome 1 +OMIM:267750 skos:exactMatch ORPHA:1571 Unspecified knobloch syndrome 1 +OMIM:602587 skos:exactMatch UMLS:C1825831 Unspecified ACOT7 +OMIM:602587 skos:exactMatch HGNC_symbol:ACOT7 Unspecified ACOT7 +OMIM:602587 skos:exactMatch HGNC:24157 Unspecified ACOT7 +OMIM:602588 skos:exactMatch UMLS:C1865143 Unspecified branchiootic syndrome 1 +OMIM:602588 skos:exactMatch UMLS:C3551443 Unspecified branchiootic syndrome 1 +OMIM:602589 skos:exactMatch HGNC_symbol:FUT8 Unspecified FUT8 +OMIM:602589 skos:exactMatch UMLS:C1414869 Unspecified FUT8 +OMIM:602589 skos:exactMatch HGNC:4019 Unspecified FUT8 +OMIM:157300 skos:exactMatch UMLS:C3887485 Unspecified migraine with or without aura, susceptibility to, 1 +OMIM:302500 skos:exactMatch UMLS:C0796205 Unspecified spinocerebellar ataxia, X-linked 1 +OMIM:614569 skos:exactMatch UMLS:C0024454 Unspecified multiple enchondromatosis, maffucci iia +OMIM:614568 skos:exactMatch UMLS:C1427948 Unspecified UNC13C +OMIM:614568 skos:exactMatch HGNC_symbol:UNC13C Unspecified UNC13C +OMIM:614568 skos:exactMatch HGNC:23149 Unspecified UNC13C +OMIM:614567 skos:exactMatch HGNC:15480 Unspecified DIAPH3 +OMIM:614567 skos:exactMatch HGNC_symbol:DIAPH3 Unspecified DIAPH3 +OMIM:614567 skos:exactMatch UMLS:C1423519 Unspecified DIAPH3 +OMIM:614566 skos:exactMatch UMLS:C1824492 Unspecified DNAAF3 +OMIM:614566 skos:exactMatch HGNC_symbol:DNAAF3 Unspecified DNAAF3 +OMIM:614566 skos:exactMatch HGNC:30492 Unspecified DNAAF3 +OMIM:614565 skos:exactMatch UMLS:C3281215 Unspecified night blindness, congenital stationary, iia 1e +OMIM:614575 skos:exactMatch ORPHA:504476 Unspecified cerebellar ataxia, neuropathy, and vestibular areflexia syndrome +OMIM:614575 skos:exactMatch UMLS:C3281223 Unspecified cerebellar ataxia, neuropathy, and vestibular areflexia syndrome +OMIM:614574 skos:exactMatch HGNC_symbol:ROGDI Unspecified ROGDI +OMIM:614574 skos:exactMatch UMLS:C1826844 Unspecified ROGDI +OMIM:614574 skos:exactMatch HGNC:29478 Unspecified ROGDI +OMIM:614573 skos:exactMatch HGNC_symbol:GPR158 Unspecified GPR158 +OMIM:614573 skos:exactMatch HGNC:23689 Unspecified GPR158 +OMIM:614573 skos:exactMatch UMLS:C1428194 Unspecified GPR158 +OMIM:614572 skos:exactMatch HGNC_symbol:ZFP42 Unspecified ZFP42 +OMIM:614572 skos:exactMatch UMLS:C1823950 Unspecified ZFP42 +OMIM:614572 skos:exactMatch HGNC:30949 Unspecified ZFP42 +OMIM:614571 skos:exactMatch UMLS:C2745997 Unspecified CPLANE1 +OMIM:614571 skos:exactMatch HGNC:25801 Unspecified CPLANE1 +OMIM:614571 skos:exactMatch HGNC_symbol:CPLANE1 Unspecified CPLANE1 +OMIM:614571 skos:exactMatch UMLS:C2240273 Unspecified CPLANE1 +OMIM:614571 skos:exactMatch UMLS:C3553264 Unspecified CPLANE1 +OMIM:614571 skos:exactMatch UMLS:C2986382 Unspecified CPLANE1 +OMIM:614570 skos:exactMatch UMLS:C2239564 Unspecified KIF18B +OMIM:614570 skos:exactMatch HGNC_symbol:KIF18B Unspecified KIF18B +OMIM:614570 skos:exactMatch HGNC:27102 Unspecified KIF18B +OMIM:602590 skos:exactMatch HGNC:8590 Unspecified PAK1 +OMIM:602590 skos:exactMatch HGNC_symbol:PAK1 Unspecified PAK1 +OMIM:602590 skos:exactMatch UMLS:C1418259 Unspecified PAK1 +OMIM:602591 skos:exactMatch HGNC:6318 Unspecified KIF2A +OMIM:602591 skos:exactMatch UMLS:C1825705 Unspecified KIF2A +OMIM:602591 skos:exactMatch HGNC_symbol:KIF2A Unspecified KIF2A +OMIM:602592 skos:exactMatch HGNC_symbol:CD5L Unspecified CD5L +OMIM:602592 skos:exactMatch HGNC:1690 Unspecified CD5L +OMIM:602592 skos:exactMatch UMLS:C1413231 Unspecified CD5L +OMIM:602593 skos:exactMatch HGNC:1802 Unspecified CDSN +OMIM:602593 skos:exactMatch UMLS:C1413299 Unspecified CDSN +OMIM:602593 skos:exactMatch HGNC_symbol:CDSN Unspecified CDSN +OMIM:602594 skos:exactMatch UMLS:C3887981 Unspecified retinitis pigmentosa 22 +OMIM:602595 skos:exactMatch HGNC_symbol:GEMIN2 Unspecified GEMIN2 +OMIM:602595 skos:exactMatch UMLS:C1420069 Unspecified GEMIN2 +OMIM:602595 skos:exactMatch HGNC:10884 Unspecified GEMIN2 +OMIM:602596 skos:exactMatch UMLS:C1865139 Unspecified pancreatic lymphoma, familial +OMIM:602575 skos:exactMatch UMLS:C0403548 Unspecified LMX1B +OMIM:602575 skos:exactMatch UMLS:C1416890 Unspecified LMX1B +OMIM:602575 skos:exactMatch HGNC_symbol:LMX1B Unspecified LMX1B +OMIM:602575 skos:exactMatch UMLS:C0027341 Unspecified LMX1B +OMIM:602575 skos:exactMatch HGNC:6654 Unspecified LMX1B +OMIM:267740 skos:exactMatch UMLS:C1849416 Unspecified retinal degeneration and epilepsy +OMIM:602576 skos:exactMatch UMLS:C1853296 Unspecified LFNG +OMIM:602576 skos:exactMatch UMLS:C1416828 Unspecified LFNG +OMIM:602576 skos:exactMatch HGNC_symbol:LFNG Unspecified LFNG +OMIM:602576 skos:exactMatch HGNC:6560 Unspecified LFNG +OMIM:159990 skos:exactMatch HGNC:7565 Unspecified MYF5 +OMIM:159990 skos:exactMatch HGNC_symbol:MYF5 Unspecified MYF5 +OMIM:159990 skos:exactMatch UMLS:C1417532 Unspecified MYF5 +OMIM:602577 skos:exactMatch HGNC_symbol:MFNG Unspecified MFNG +OMIM:602577 skos:exactMatch HGNC:7038 Unspecified MFNG +OMIM:602577 skos:exactMatch UMLS:C1334504 Unspecified MFNG +OMIM:159991 skos:exactMatch HGNC:7566 Unspecified MYF6 +OMIM:159991 skos:exactMatch HGNC_symbol:MYF6 Unspecified MYF6 +OMIM:159991 skos:exactMatch UMLS:C1417533 Unspecified MYF6 +OMIM:602578 skos:exactMatch HGNC:9974 Unspecified RFNG +OMIM:602578 skos:exactMatch HGNC_symbol:RFNG Unspecified RFNG +OMIM:602578 skos:exactMatch UMLS:C1419353 Unspecified RFNG +OMIM:602579 skos:exactMatch UMLS:C1865145 Unspecified congenital disorder of glycosylation, iia ib +OMIM:160980 skos:exactMatch UMLS:C2607929 Unspecified carney complex, iia 1 +OMIM:160980 skos:exactMatch UMLS:C0406810 Unspecified carney complex, iia 1 +OMIM:614559 skos:exactMatch UMLS:C3281192 Unspecified infantile cerebellar-retinal degeneration +OMIM:614559 skos:exactMatch ORPHA:313850 Unspecified infantile cerebellar-retinal degeneration +OMIM:614558 skos:exactMatch UMLS:C3281191 Unspecified developmental and epileptic encephalopathy 13 +OMIM:614558 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 13 +OMIM:614557 skos:exactMatch UMLS:C3281160 Unspecified ehlers-danlos syndrome, kyphoscoliotic type, 2 +OMIM:614556 skos:exactMatch UMLS:C1425260 Unspecified ARID1B +OMIM:614556 skos:exactMatch HGNC_symbol:ARID1B Unspecified ARID1B +OMIM:614556 skos:exactMatch HGNC:18040 Unspecified ARID1B +OMIM:614555 skos:exactMatch HGNC:19839 Unspecified FRMD6 +OMIM:614555 skos:exactMatch UMLS:C1825314 Unspecified FRMD6 +OMIM:614555 skos:exactMatch HGNC_symbol:FRMD6 Unspecified FRMD6 +OMIM:614554 skos:exactMatch UMLS:C1428387 Unspecified FAM32A +OMIM:614554 skos:exactMatch HGNC_symbol:FAM32A Unspecified FAM32A +OMIM:614554 skos:exactMatch HGNC:24563 Unspecified FAM32A +OMIM:614564 skos:exactMatch ORPHA:313846 Unspecified cutaneous telangiectasia and cancer syndrome, familial +OMIM:614564 skos:exactMatch UMLS:C3281203 Unspecified cutaneous telangiectasia and cancer syndrome, familial +OMIM:614563 skos:exactMatch UMLS:C3281202 Unspecified intellectual developmental disorder, autosomal dominant 13 +OMIM:614561 skos:exactMatch UMLS:C3281200 Unspecified leukoencephalopathy, brain calcifications, and cysts +OMIM:614560 skos:exactMatch HGNC_symbol:MAU2 Unspecified MAU2 +OMIM:614560 skos:exactMatch HGNC:29140 Unspecified MAU2 +OMIM:614560 skos:exactMatch UMLS:C1428798 Unspecified MAU2 +OMIM:602580 skos:exactMatch HGNC_symbol:GOLGA2 Unspecified GOLGA2 +OMIM:602580 skos:exactMatch HGNC:4425 Unspecified GOLGA2 +OMIM:602580 skos:exactMatch UMLS:C1415174 Unspecified GOLGA2 +OMIM:602581 skos:exactMatch HGNC_symbol:GOLGA3 Unspecified GOLGA3 +OMIM:602581 skos:exactMatch HGNC:4426 Unspecified GOLGA3 +OMIM:602581 skos:exactMatch UMLS:C1415175 Unspecified GOLGA3 +OMIM:602582 skos:exactMatch UMLS:C1333256 Unspecified DTX1 +OMIM:602582 skos:exactMatch HGNC_symbol:DTX1 Unspecified DTX1 +OMIM:602582 skos:exactMatch HGNC:3060 Unspecified DTX1 +OMIM:602583 skos:exactMatch HGNC_symbol:GPR37 Unspecified GPR37 +OMIM:602583 skos:exactMatch HGNC:4494 Unspecified GPR37 +OMIM:602583 skos:exactMatch UMLS:C1415231 Unspecified GPR37 +OMIM:602584 skos:exactMatch HGNC:9935 Unspecified RCN2 +OMIM:602584 skos:exactMatch HGNC_symbol:RCN2 Unspecified RCN2 +OMIM:602584 skos:exactMatch UMLS:C1335606 Unspecified RCN2 +OMIM:241120 skos:exactMatch UMLS:C1855856 Unspecified hypohidrosis with abnormal palmar dermal ridges +OMIM:602564 skos:exactMatch UMLS:C1865180 Unspecified emphysema, congenital, with deafness, penoscrotal web, and mental retardation +OMIM:602565 skos:exactMatch HGNC:10624 Unspecified CCL25 +OMIM:602565 skos:exactMatch HGNC_symbol:CCL25 Unspecified CCL25 +OMIM:602565 skos:exactMatch UMLS:C1332688 Unspecified CCL25 +OMIM:602566 skos:exactMatch HGNC_symbol:P2RX7 Unspecified P2RX7 +OMIM:602566 skos:exactMatch HGNC:8537 Unspecified P2RX7 +OMIM:602566 skos:exactMatch UMLS:C1418215 Unspecified P2RX7 +OMIM:267730 skos:exactMatch UMLS:C0024302 Unspecified reticulum cell sarcoma +OMIM:159980 skos:exactMatch HGNC:7612 Unspecified MYOG +OMIM:159980 skos:exactMatch HGNC_symbol:MYOG Unspecified MYOG +OMIM:159980 skos:exactMatch UMLS:C1417575 Unspecified MYOG +OMIM:602567 skos:exactMatch UMLS:C1366510 Unspecified LIMS1 +OMIM:602567 skos:exactMatch HGNC:6616 Unspecified LIMS1 +OMIM:602567 skos:exactMatch HGNC_symbol:LIMS1 Unspecified LIMS1 +OMIM:602568 skos:exactMatch UMLS:C1417458 Unspecified MTRR +OMIM:602568 skos:exactMatch HGNC_symbol:MTRR Unspecified MTRR +OMIM:602568 skos:exactMatch HGNC:7473 Unspecified MTRR +OMIM:602569 skos:exactMatch UMLS:C1420278 Unspecified SNCB +OMIM:602569 skos:exactMatch HGNC_symbol:SNCB Unspecified SNCB +OMIM:602569 skos:exactMatch HGNC:11140 Unspecified SNCB +OMIM:614549 skos:exactMatch HGNC:23231 Unspecified SERINC2 +OMIM:614549 skos:exactMatch UMLS:C1822680 Unspecified SERINC2 +OMIM:614549 skos:exactMatch HGNC_symbol:SERINC2 Unspecified SERINC2 +OMIM:614548 skos:exactMatch UMLS:C1822679 Unspecified SERINC1 +OMIM:614548 skos:exactMatch HGNC_symbol:SERINC1 Unspecified SERINC1 +OMIM:614548 skos:exactMatch HGNC:13464 Unspecified SERINC1 +OMIM:614547 skos:exactMatch UMLS:C1825228 Unspecified FAM103A1 +OMIM:614547 skos:exactMatch HGNC:31022 Unspecified FAM103A1 +OMIM:614547 skos:exactMatch HGNC_symbol:RAMAC Unspecified FAM103A1 +OMIM:614546 skos:exactMatch UMLS:C3281153 Unspecified efavirenz, poor metabolism of +OMIM:614546 skos:exactMatch UMLS:C3281154 Unspecified efavirenz, poor metabolism of +OMIM:614545 skos:exactMatch HGNC_symbol:EMC10 Unspecified EMC10 +OMIM:614545 skos:exactMatch UMLS:C2240327 Unspecified EMC10 +OMIM:614545 skos:exactMatch HGNC:27609 Unspecified EMC10 +OMIM:614544 skos:exactMatch HGNC_symbol:DIPK1C Unspecified FAM69C +OMIM:614544 skos:exactMatch HGNC:31729 Unspecified FAM69C +OMIM:614544 skos:exactMatch UMLS:C2829366 Unspecified FAM69C +OMIM:614543 skos:exactMatch UMLS:C1825131 Unspecified FAM69B +OMIM:614543 skos:exactMatch HGNC:28290 Unspecified FAM69B +OMIM:614543 skos:exactMatch HGNC_symbol:DIPK1B Unspecified FAM69B +OMIM:614553 skos:exactMatch HGNC:16021 Unspecified N6AMT1 +OMIM:614553 skos:exactMatch HGNC_symbol:N6AMT1 Unspecified N6AMT1 +OMIM:614553 skos:exactMatch UMLS:C1826338 Unspecified N6AMT1 +OMIM:614552 skos:exactMatch HGNC:26639 Unspecified XXYLT1 +OMIM:614552 skos:exactMatch HGNC_symbol:XXYLT1 Unspecified XXYLT1 +OMIM:614552 skos:exactMatch UMLS:C1540232 Unspecified XXYLT1 +OMIM:614551 skos:exactMatch HGNC:18825 Unspecified SERINC5 +OMIM:614551 skos:exactMatch UMLS:C1822683 Unspecified SERINC5 +OMIM:614551 skos:exactMatch HGNC_symbol:SERINC5 Unspecified SERINC5 +OMIM:145350 skos:exactMatch UMLS:C1840385 Unspecified hypotaurinemic retinal degeneration and cardiomyopathy +OMIM:614550 skos:exactMatch HGNC:32237 Unspecified SERINC4 +OMIM:614550 skos:exactMatch UMLS:C1822682 Unspecified SERINC4 +OMIM:614550 skos:exactMatch HGNC_symbol:SERINC4 Unspecified SERINC4 +OMIM:169300 skos:exactMatch UMLS:C0016842 Unspecified pectus excavatum +OMIM:602570 skos:exactMatch HGNC_symbol:JAG2 Unspecified JAG2 +OMIM:602570 skos:exactMatch HGNC:6189 Unspecified JAG2 +OMIM:602570 skos:exactMatch UMLS:C1416526 Unspecified JAG2 +OMIM:602571 skos:exactMatch HGNC_symbol:RBM4 Unspecified RBM4 +OMIM:602571 skos:exactMatch HGNC:9901 Unspecified RBM4 +OMIM:602571 skos:exactMatch UMLS:C1419300 Unspecified RBM4 +OMIM:602572 skos:exactMatch HGNC:535 Unspecified ANXA11 +OMIM:602572 skos:exactMatch UMLS:C1456375 Unspecified ANXA11 +OMIM:602572 skos:exactMatch HGNC_symbol:ANXA11 Unspecified ANXA11 +OMIM:602573 skos:exactMatch HGNC:536 Unspecified ANXA13 +OMIM:602573 skos:exactMatch UMLS:C1412419 Unspecified ANXA13 +OMIM:602573 skos:exactMatch HGNC_symbol:ANXA13 Unspecified ANXA13 +OMIM:602574 skos:exactMatch UMLS:C1420683 Unspecified TECTA +OMIM:602574 skos:exactMatch HGNC_symbol:TECTA Unspecified TECTA +OMIM:602574 skos:exactMatch HGNC:11720 Unspecified TECTA +OMIM:182310 skos:exactMatch HGNC_symbol:ATP1A1 Unspecified ATP1A1 +OMIM:182310 skos:exactMatch HGNC:799 Unspecified ATP1A1 +OMIM:182310 skos:exactMatch UMLS:C1412628 Unspecified ATP1A1 +OMIM:160993 skos:exactMatch UMLS:C1417746 Unspecified NMT1 +OMIM:160993 skos:exactMatch HGNC_symbol:NMT1 Unspecified NMT1 +OMIM:160993 skos:exactMatch HGNC:7857 Unspecified NMT1 +OMIM:160994 skos:exactMatch UMLS:C1415647 Unspecified HNRNPM +OMIM:160994 skos:exactMatch HGNC_symbol:HNRNPM Unspecified HNRNPM +OMIM:160994 skos:exactMatch HGNC:5046 Unspecified HNRNPM +OMIM:241100 skos:exactMatch UMLS:C2673479 Unspecified hypogonadism, male +OMIM:241100 skos:exactMatch UMLS:C0151721 Unspecified hypogonadism, male +OMIM:160995 skos:exactMatch UMLS:C1417133 Unspecified MGAT1 +OMIM:160995 skos:exactMatch HGNC_symbol:MGAT1 Unspecified MGAT1 +OMIM:160995 skos:exactMatch HGNC:7044 Unspecified MGAT1 +OMIM:160990 skos:exactMatch UMLS:C1834418 Unspecified myotonic myopathy with cylindrical spirals +OMIM:194300 skos:exactMatch UMLS:C1860238 Unspecified woolly hair, autosomal dominant +OMIM:160998 skos:exactMatch UMLS:C1417745 Unspecified NQO2 +OMIM:160998 skos:exactMatch HGNC_symbol:NQO2 Unspecified NQO2 +OMIM:160998 skos:exactMatch HGNC:7856 Unspecified NQO2 +OMIM:267700 skos:exactMatch UMLS:C4551514 Unspecified hemophagocytic lymphohistiocytosis, familial, 1 +OMIM:267700 skos:exactMatch ORPHA:540 Unspecified hemophagocytic lymphohistiocytosis, familial, 1 +OMIM:267700 skos:exactMatch UMLS:C0272199 Unspecified hemophagocytic lymphohistiocytosis, familial, 1 +OMIM:614599 skos:exactMatch HGNC_symbol:MIR302D Unspecified MIR302D +OMIM:614599 skos:exactMatch HGNC:31765 Unspecified MIR302D +OMIM:614599 skos:exactMatch UMLS:C1537869 Unspecified MIR302D +OMIM:614598 skos:exactMatch HGNC_symbol:MIR302C Unspecified MIR302C +OMIM:614598 skos:exactMatch HGNC:31764 Unspecified MIR302C +OMIM:614598 skos:exactMatch UMLS:C1537868 Unspecified MIR302C +OMIM:255710 skos:exactMatch UMLS:C1850654 Unspecified myotonia with skeletal abnormalities and mental retardation +OMIM:614589 skos:exactMatch UMLS:C2681086 Unspecified TTC37 +OMIM:614589 skos:exactMatch HGNC_symbol:TTC37 Unspecified TTC37 +OMIM:614589 skos:exactMatch HGNC:23639 Unspecified TTC37 +OMIM:614588 skos:exactMatch UMLS:C3281236 Unspecified dystonia 21 +OMIM:614587 skos:exactMatch HGNC:28680 Unspecified CHAC1 +OMIM:614587 skos:exactMatch HGNC_symbol:CHAC1 Unspecified CHAC1 +OMIM:614587 skos:exactMatch UMLS:C1824730 Unspecified CHAC1 +OMIM:614597 skos:exactMatch HGNC_symbol:MIR302B Unspecified MIR302B +OMIM:614597 skos:exactMatch HGNC:31763 Unspecified MIR302B +OMIM:614597 skos:exactMatch UMLS:C1537867 Unspecified MIR302B +OMIM:614596 skos:exactMatch HGNC_symbol:MIR302A Unspecified MIR302A +OMIM:614596 skos:exactMatch HGNC:31623 Unspecified MIR302A +OMIM:614596 skos:exactMatch UMLS:C1537866 Unspecified MIR302A +OMIM:614595 skos:exactMatch UMLS:C3281288 Unspecified preeclampsia/eclampsia 5 +OMIM:614594 skos:exactMatch UMLS:C2609071 Unspecified olmsted syndrome 1 +OMIM:614593 skos:exactMatch UMLS:C1825660 Unspecified MARF1 +OMIM:614593 skos:exactMatch HGNC:29562 Unspecified MARF1 +OMIM:614593 skos:exactMatch HGNC_symbol:MARF1 Unspecified MARF1 +OMIM:314500 skos:exactMatch UMLS:C0796192 Unspecified van den bosch syndrome +OMIM:614592 skos:exactMatch UMLS:C3281247 Unspecified bent bone dysplasia syndrome +OMIM:614591 skos:exactMatch HGNC:31948 Unspecified CEACAM16 +OMIM:614591 skos:exactMatch HGNC_symbol:CEACAM16 Unspecified CEACAM16 +OMIM:614591 skos:exactMatch UMLS:C1824693 Unspecified CEACAM16 +OMIM:614590 skos:exactMatch UMLS:C3281245 Unspecified podoconiosis, susceptibility to +OMIM:182305 skos:exactMatch HGNC:11068 Unspecified SLC8A1 +OMIM:182305 skos:exactMatch UMLS:C1420229 Unspecified SLC8A1 +OMIM:182305 skos:exactMatch HGNC_symbol:SLC8A1 Unspecified SLC8A1 +OMIM:182308 skos:exactMatch HGNC_symbol:SLC17A1 Unspecified SLC17A1 +OMIM:182308 skos:exactMatch UMLS:C1420109 Unspecified SLC17A1 +OMIM:182308 skos:exactMatch HGNC:10929 Unspecified SLC17A1 +OMIM:182307 skos:exactMatch UMLS:C0267663 Unspecified SLC9A3 +OMIM:182307 skos:exactMatch HGNC:11073 Unspecified SLC9A3 +OMIM:182307 skos:exactMatch UMLS:C1420234 Unspecified SLC9A3 +OMIM:182307 skos:exactMatch HGNC_symbol:SLC9A3 Unspecified SLC9A3 +OMIM:182309 skos:exactMatch HGNC_symbol:SLC34A1 Unspecified SLC34A1 +OMIM:182309 skos:exactMatch HGNC:11019 Unspecified SLC34A1 +OMIM:182309 skos:exactMatch UMLS:C1420185 Unspecified SLC34A1 +OMIM:170000 skos:exactMatch HGNC:8839 Unspecified PEPC +OMIM:170000 skos:exactMatch HGNC_symbol:PEPC Unspecified PEPC +OMIM:170000 skos:exactMatch UMLS:C1418461 Unspecified PEPC +OMIM:182000 skos:exactMatch UMLS:C0022603 Unspecified keratosis, seborrheic +OMIM:121070 skos:exactMatch UMLS:C1852597 Unspecified arthrogryposis, distal, iia 2e +OMIM:169000 skos:exactMatch UMLS:C1868575 Unspecified patella, familial recurrent dislocation of +OMIM:218530 skos:exactMatch UMLS:C1857493 Unspecified craniosynostosis with anomalies of the cranial base and digits +OMIM:206550 skos:exactMatch UMLS:C1859784 Unspecified angiolipomatosis, familial +OMIM:121050 skos:exactMatch UMLS:C0220668 Unspecified contractural arachnodactyly, congenital +OMIM:133090 skos:exactMatch HGNC_symbol:STOM Unspecified STOM +OMIM:133090 skos:exactMatch HGNC:3383 Unspecified STOM +OMIM:133090 skos:exactMatch UMLS:C1414428 Unspecified STOM +OMIM:612099 skos:exactMatch UMLS:C2677505 Unspecified trichoepithelioma, multiple familial, 2 +OMIM:612097 skos:exactMatch UMLS:C2677512 Unspecified deafness, unilateral, with delayed endolymphatic hydrops +OMIM:612098 skos:exactMatch UMLS:C2677506 Unspecified cardiomyopathy, familial hypertrophic, 11 +OMIM:612095 skos:exactMatch UMLS:C2677516 Unspecified retinitis pigmentosa 41 +OMIM:612096 skos:exactMatch UMLS:C2677515 Unspecified otosclerosis 8 +OMIM:612093 skos:exactMatch HGNC_symbol:MIR141 Unspecified MIR141 +OMIM:612093 skos:exactMatch UMLS:C1537795 Unspecified MIR141 +OMIM:612093 skos:exactMatch HGNC:31528 Unspecified MIR141 +OMIM:612094 skos:exactMatch UMLS:C1826022 Unspecified MIRN429 +OMIM:612094 skos:exactMatch HGNC_symbol:MIR429 Unspecified MIRN429 +OMIM:612094 skos:exactMatch HGNC:13784 Unspecified MIRN429 +OMIM:612091 skos:exactMatch UMLS:C1537839 Unspecified MIRN200B +OMIM:612091 skos:exactMatch HGNC:31579 Unspecified MIRN200B +OMIM:612091 skos:exactMatch HGNC_symbol:MIR200B Unspecified MIRN200B +OMIM:612092 skos:exactMatch UMLS:C1537840 Unspecified MIR200C +OMIM:612092 skos:exactMatch HGNC:31580 Unspecified MIR200C +OMIM:612092 skos:exactMatch HGNC_symbol:MIR200C Unspecified MIR200C +OMIM:612090 skos:exactMatch UMLS:C1537838 Unspecified MIR200A +OMIM:612090 skos:exactMatch HGNC:31578 Unspecified MIR200A +OMIM:612090 skos:exactMatch HGNC_symbol:MIR200A Unspecified MIR200A +OMIM:123695 skos:exactMatch UMLS:C1837073 Unspecified PCYT1A +OMIM:123695 skos:exactMatch HGNC_symbol:PCYT1A Unspecified PCYT1A +OMIM:123695 skos:exactMatch HGNC:8754 Unspecified PCYT1A +OMIM:123695 skos:exactMatch UMLS:C1418396 Unspecified PCYT1A +OMIM:123691 skos:exactMatch HGNC:2419 Unspecified CRYZ +OMIM:123691 skos:exactMatch UMLS:C1413742 Unspecified CRYZ +OMIM:123691 skos:exactMatch HGNC_symbol:CRYZ Unspecified CRYZ +OMIM:123690 skos:exactMatch HGNC:2411 Unspecified CRYGD +OMIM:123690 skos:exactMatch HGNC_symbol:CRYGD Unspecified CRYGD +OMIM:123690 skos:exactMatch UMLS:C1413736 Unspecified CRYGD +OMIM:123680 skos:exactMatch HGNC:2410 Unspecified CRYGC +OMIM:123680 skos:exactMatch HGNC_symbol:CRYGC Unspecified CRYGC +OMIM:123680 skos:exactMatch UMLS:C1413735 Unspecified CRYGC +OMIM:206500 skos:exactMatch UMLS:C0002902 Unspecified anencephaly 1 +OMIM:121010 skos:exactMatch HGNC_symbol:PPBP Unspecified PPBP +OMIM:121010 skos:exactMatch HGNC:9240 Unspecified PPBP +OMIM:121010 skos:exactMatch UMLS:C1335239 Unspecified PPBP +OMIM:121011 skos:exactMatch UMLS:C0266004 Unspecified GJB2 +OMIM:121011 skos:exactMatch UMLS:C5394556 Unspecified GJB2 +OMIM:121011 skos:exactMatch HGNC:4284 Unspecified GJB2 +OMIM:121011 skos:exactMatch UMLS:C0265336 Unspecified GJB2 +OMIM:121011 skos:exactMatch HGNC_symbol:GJB2 Unspecified GJB2 +OMIM:121011 skos:exactMatch UMLS:C2675750 Unspecified GJB2 +OMIM:121011 skos:exactMatch UMLS:C0265964 Unspecified GJB2 +OMIM:121011 skos:exactMatch UMLS:C1415077 Unspecified GJB2 +OMIM:121011 skos:exactMatch UMLS:C1865234 Unspecified GJB2 +OMIM:121011 skos:exactMatch UMLS:C2673760 Unspecified GJB2 +OMIM:121011 skos:exactMatch UMLS:C2673761 Unspecified GJB2 +OMIM:121011 skos:exactMatch UMLS:C2673759 Unspecified GJB2 +OMIM:121011 skos:exactMatch UMLS:C1835672 Unspecified GJB2 +OMIM:121012 skos:exactMatch HGNC:4278 Unspecified GJA4 +OMIM:121012 skos:exactMatch HGNC_symbol:GJA4 Unspecified GJA4 +OMIM:121012 skos:exactMatch UMLS:C1415072 Unspecified GJA4 +OMIM:121013 skos:exactMatch HGNC:4279 Unspecified GJA5 +OMIM:121013 skos:exactMatch HGNC_symbol:GJA5 Unspecified GJA5 +OMIM:121013 skos:exactMatch UMLS:C1415073 Unspecified GJA5 +OMIM:123670 skos:exactMatch HGNC:2409 Unspecified CRYGB +OMIM:123670 skos:exactMatch HGNC_symbol:CRYGB Unspecified CRYGB +OMIM:123670 skos:exactMatch UMLS:C1413734 Unspecified CRYGB +OMIM:121014 skos:exactMatch HGNC:4274 Unspecified GJA1 +OMIM:121014 skos:exactMatch HGNC_symbol:GJA1 Unspecified GJA1 +OMIM:121014 skos:exactMatch UMLS:C1415068 Unspecified GJA1 +OMIM:121015 skos:exactMatch HGNC:4277 Unspecified GJA3 +OMIM:121015 skos:exactMatch HGNC_symbol:GJA3 Unspecified GJA3 +OMIM:121015 skos:exactMatch UMLS:C1415071 Unspecified GJA3 +OMIM:111680 skos:exactMatch HGNC:10009 Unspecified RHD +OMIM:111680 skos:exactMatch HGNC_symbol:RHD Unspecified RHD +OMIM:111680 skos:exactMatch UMLS:C1419382 Unspecified RHD +OMIM:108050 skos:exactMatch UMLS:C1862510 Unspecified arteritis, familial granulomatous, with juvenile polyarthritis +OMIM:194000 skos:exactMatch UMLS:C1853486 Unspecified widow's peak +OMIM:123660 skos:exactMatch HGNC:2408 Unspecified CRYGA +OMIM:123660 skos:exactMatch HGNC_symbol:CRYGA Unspecified CRYGA +OMIM:123660 skos:exactMatch UMLS:C1413733 Unspecified CRYGA +OMIM:123660 skos:exactMatch UMLS:C1413737 Unspecified CRYGA +OMIM:121009 skos:exactMatch UMLS:C1413791 Unspecified CCN2 +OMIM:121009 skos:exactMatch HGNC:2500 Unspecified CCN2 +OMIM:121009 skos:exactMatch HGNC_symbol:CCN2 Unspecified CCN2 +OMIM:194050 skos:exactMatch UMLS:C0175702 Unspecified williams-beuren syndrome +OMIM:194050 skos:exactMatch ORPHA:904 Unspecified williams-beuren syndrome +OMIM:108000 skos:exactMatch UMLS:C1876179 Unspecified arteries, anomalies of +OMIM:314380 skos:exactMatch UMLS:C1839116 Unspecified unique green phenomenon +OMIM:314375 skos:exactMatch UMLS:C4016594 Unspecified SLC35A2 +OMIM:314375 skos:exactMatch HGNC_symbol:SLC35A2 Unspecified SLC35A2 +OMIM:314375 skos:exactMatch HGNC:11022 Unspecified SLC35A2 +OMIM:314375 skos:exactMatch UMLS:C1420188 Unspecified SLC35A2 +OMIM:314375 skos:exactMatch UMLS:C3806688 Unspecified SLC35A2 +OMIM:123631 skos:exactMatch HGNC_symbol:CRYBA4 Unspecified CRYBA4 +OMIM:123631 skos:exactMatch UMLS:C1413728 Unspecified CRYBA4 +OMIM:123631 skos:exactMatch HGNC:2396 Unspecified CRYBA4 +OMIM:123630 skos:exactMatch UMLS:C1413732 Unspecified CRYBB3 +OMIM:123630 skos:exactMatch HGNC_symbol:CRYBB3 Unspecified CRYBB3 +OMIM:123630 skos:exactMatch HGNC:2400 Unspecified CRYBB3 +OMIM:108010 skos:exactMatch ORPHA:46724 Unspecified arteriovenous malformations of the brain +OMIM:108010 skos:exactMatch UMLS:C0917804 Unspecified arteriovenous malformations of the brain +OMIM:314390 skos:exactMatch UMLS:C2931228 Unspecified vacterl association, x-linked, with or without hydrocephalus +OMIM:123620 skos:exactMatch UMLS:C1413730 Unspecified CRYBB2 +OMIM:123620 skos:exactMatch HGNC_symbol:CRYBB2 Unspecified CRYBB2 +OMIM:123620 skos:exactMatch HGNC:2398 Unspecified CRYBB2 +OMIM:602710 skos:exactMatch HGNC:582 Unspecified APBB2 +OMIM:602710 skos:exactMatch HGNC_symbol:APBB2 Unspecified APBB2 +OMIM:602710 skos:exactMatch UMLS:C1412460 Unspecified APBB2 +OMIM:602711 skos:exactMatch UMLS:C1427086 Unspecified APBB3 +OMIM:602711 skos:exactMatch HGNC:20708 Unspecified APBB3 +OMIM:602711 skos:exactMatch HGNC_symbol:APBB3 Unspecified APBB3 +OMIM:602712 skos:exactMatch HGNC:579 Unspecified APBA2 +OMIM:602712 skos:exactMatch HGNC_symbol:APBA2 Unspecified APBA2 +OMIM:602712 skos:exactMatch UMLS:C1412457 Unspecified APBA2 +OMIM:602713 skos:exactMatch HGNC:216 Unspecified ADAM9 +OMIM:602713 skos:exactMatch UMLS:C1412207 Unspecified ADAM9 +OMIM:602713 skos:exactMatch HGNC_symbol:ADAM9 Unspecified ADAM9 +OMIM:602714 skos:exactMatch HGNC:190 Unspecified ADAM12 +OMIM:602714 skos:exactMatch UMLS:C1412182 Unspecified ADAM12 +OMIM:602714 skos:exactMatch HGNC_symbol:ADAM12 Unspecified ADAM12 +OMIM:602715 skos:exactMatch UMLS:C1416886 Unspecified LMOD1 +OMIM:602715 skos:exactMatch HGNC_symbol:LMOD1 Unspecified LMOD1 +OMIM:602715 skos:exactMatch HGNC:6647 Unspecified LMOD1 +OMIM:602716 skos:exactMatch UMLS:C1417784 Unspecified NPHS1 +OMIM:602716 skos:exactMatch HGNC_symbol:NPHS1 Unspecified NPHS1 +OMIM:602716 skos:exactMatch HGNC:7908 Unspecified NPHS1 +OMIM:602717 skos:exactMatch HGNC:4588 Unspecified GRIN2D +OMIM:602717 skos:exactMatch UMLS:C1415302 Unspecified GRIN2D +OMIM:602717 skos:exactMatch HGNC_symbol:GRIN2D Unspecified GRIN2D +OMIM:602717 skos:exactMatch UMLS:C4310687 Unspecified GRIN2D +OMIM:602718 skos:exactMatch HGNC_symbol:TRA2A Unspecified TRA2A +OMIM:602718 skos:exactMatch HGNC:16645 Unspecified TRA2A +OMIM:602718 skos:exactMatch UMLS:C1864500 Unspecified TRA2A +OMIM:602719 skos:exactMatch HGNC_symbol:TRA2B Unspecified TRA2B +OMIM:602719 skos:exactMatch UMLS:C1419990 Unspecified TRA2B +OMIM:602719 skos:exactMatch HGNC:10781 Unspecified TRA2B +OMIM:194090 skos:exactMatch UMLS:C1860265 Unspecified wilms tumor 3 +OMIM:123610 skos:exactMatch HGNC:2394 Unspecified CRYBA1 +OMIM:123610 skos:exactMatch UMLS:C1413726 Unspecified CRYBA1 +OMIM:123610 skos:exactMatch HGNC_symbol:CRYBA1 Unspecified CRYBA1 +OMIM:602700 skos:exactMatch HGNC:3373 Unspecified EP300 +OMIM:602700 skos:exactMatch HGNC_symbol:EP300 Unspecified EP300 +OMIM:602700 skos:exactMatch UMLS:C1333336 Unspecified EP300 +OMIM:602701 skos:exactMatch HGNC:16643 Unspecified SLMAP +OMIM:602701 skos:exactMatch HGNC_symbol:SLMAP Unspecified SLMAP +OMIM:602701 skos:exactMatch UMLS:C1424461 Unspecified SLMAP +OMIM:602702 skos:exactMatch HGNC:16893 Unspecified PLIN3 +OMIM:602702 skos:exactMatch HGNC_symbol:PLIN3 Unspecified PLIN3 +OMIM:602702 skos:exactMatch UMLS:C1424620 Unspecified PLIN3 +OMIM:602703 skos:exactMatch UMLS:C1416542 Unspecified KATNB1 +OMIM:602703 skos:exactMatch HGNC_symbol:KATNB1 Unspecified KATNB1 +OMIM:602703 skos:exactMatch HGNC:6217 Unspecified KATNB1 +OMIM:602704 skos:exactMatch HGNC:6974 Unspecified MDM4 +OMIM:602704 skos:exactMatch UMLS:C1417089 Unspecified MDM4 +OMIM:602704 skos:exactMatch HGNC_symbol:MDM4 Unspecified MDM4 +OMIM:602704 skos:exactMatch UMLS:C5394274 Unspecified MDM4 +OMIM:602705 skos:exactMatch HGNC:11496 Unspecified SYN3 +OMIM:602705 skos:exactMatch HGNC_symbol:SYN3 Unspecified SYN3 +OMIM:602705 skos:exactMatch UMLS:C1420545 Unspecified SYN3 +OMIM:602706 skos:exactMatch UMLS:C1419020 Unspecified PSMC1 +OMIM:602706 skos:exactMatch HGNC_symbol:PSMC1 Unspecified PSMC1 +OMIM:602706 skos:exactMatch HGNC:9547 Unspecified PSMC1 +OMIM:602707 skos:exactMatch UMLS:C1419024 Unspecified PSMC4 +OMIM:602707 skos:exactMatch HGNC_symbol:PSMC4 Unspecified PSMC4 +OMIM:602707 skos:exactMatch HGNC:9551 Unspecified PSMC4 +OMIM:602708 skos:exactMatch UMLS:C1419026 Unspecified PSMC6 +OMIM:602708 skos:exactMatch HGNC_symbol:PSMC6 Unspecified PSMC6 +OMIM:602708 skos:exactMatch HGNC:9553 Unspecified PSMC6 +OMIM:602709 skos:exactMatch UMLS:C1412459 Unspecified APBB1 +OMIM:602709 skos:exactMatch HGNC:581 Unspecified APBB1 +OMIM:602709 skos:exactMatch HGNC_symbol:APBB1 Unspecified APBB1 +OMIM:111620 skos:exactMatch UMLS:C1862204 Unspecified radin blood group antigen +OMIM:182098 skos:exactMatch HGNC:10608 Unspecified SCTR +OMIM:182098 skos:exactMatch HGNC_symbol:SCTR Unspecified SCTR +OMIM:182098 skos:exactMatch UMLS:C1335806 Unspecified SCTR +OMIM:182099 skos:exactMatch HGNC_symbol:SCT Unspecified SCT +OMIM:182099 skos:exactMatch UMLS:C1419875 Unspecified SCT +OMIM:182099 skos:exactMatch HGNC:10607 Unspecified SCT +OMIM:182090 skos:exactMatch UMLS:C1420421 Unspecified SSAV1 +OMIM:194070 skos:exactMatch UMLS:C0027708 Unspecified wilms tumor 1 +OMIM:194070 skos:exactMatch ORPHA:654 Unspecified wilms tumor 1 +OMIM:194071 skos:exactMatch UMLS:C3887743 Unspecified wilms tumor 2 +OMIM:194072 skos:exactMatch UMLS:C0206115 Unspecified wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome +OMIM:111600 skos:exactMatch UMLS:C3276339 Unspecified blood group, langereis system +OMIM:194080 skos:exactMatch UMLS:C0950121 Unspecified denys-drash syndrome +OMIM:602630 skos:exactMatch HGNC:11776 Unspecified TGIF +OMIM:602630 skos:exactMatch UMLS:C1420712 Unspecified TGIF +OMIM:602630 skos:exactMatch HGNC_symbol:TGIF1 Unspecified TGIF +OMIM:602631 skos:exactMatch UMLS:C1420135 Unspecified SLC22A18 +OMIM:602631 skos:exactMatch HGNC_symbol:SLC22A18 Unspecified SLC22A18 +OMIM:602631 skos:exactMatch HGNC:10964 Unspecified SLC22A18 +OMIM:602631 skos:exactMatch UMLS:C1865093 Unspecified SLC22A18 +OMIM:602632 skos:exactMatch UMLS:C1418724 Unspecified PODXL +OMIM:602632 skos:exactMatch HGNC_symbol:PODXL Unspecified PODXL +OMIM:602632 skos:exactMatch HGNC:9171 Unspecified PODXL +OMIM:602633 skos:exactMatch UMLS:C1333547 Unspecified FHL2 +OMIM:602633 skos:exactMatch HGNC_symbol:FHL2 Unspecified FHL2 +OMIM:602633 skos:exactMatch HGNC:3703 Unspecified FHL2 +OMIM:602634 skos:exactMatch HGNC_symbol:DNAJB9 Unspecified DNAJB9 +OMIM:602634 skos:exactMatch HGNC:6968 Unspecified DNAJB9 +OMIM:602634 skos:exactMatch UMLS:C1417086 Unspecified DNAJB9 +OMIM:614619 skos:exactMatch UMLS:C3553291 Unspecified hyperekplexia 2 +OMIM:602635 skos:exactMatch HGNC_symbol:DEAF1 Unspecified DEAF1 +OMIM:602635 skos:exactMatch HGNC:14677 Unspecified DEAF1 +OMIM:602635 skos:exactMatch UMLS:C4310683 Unspecified DEAF1 +OMIM:602635 skos:exactMatch UMLS:C5394573 Unspecified DEAF1 +OMIM:602635 skos:exactMatch UMLS:C5394572 Unspecified DEAF1 +OMIM:602635 skos:exactMatch UMLS:C1422833 Unspecified DEAF1 +OMIM:602635 skos:exactMatch UMLS:C4014414 Unspecified DEAF1 +OMIM:614618 skos:exactMatch UMLS:C3553288 Unspecified hyperekplexia 3 +OMIM:602636 skos:exactMatch HGNC_symbol:PPP1R8 Unspecified PPP1R8 +OMIM:602636 skos:exactMatch UMLS:C1418833 Unspecified PPP1R8 +OMIM:602636 skos:exactMatch HGNC:9296 Unspecified PPP1R8 +OMIM:602637 skos:exactMatch HGNC_symbol:SPP2 Unspecified SPP2 +OMIM:602637 skos:exactMatch HGNC:11256 Unspecified SPP2 +OMIM:602637 skos:exactMatch UMLS:C1420370 Unspecified SPP2 +OMIM:614617 skos:exactMatch UMLS:C2829265 Unspecified deafness, autosomal recessive 86 +OMIM:602638 skos:exactMatch UMLS:C1334491 Unspecified MCM4 +OMIM:602638 skos:exactMatch HGNC:6947 Unspecified MCM4 +OMIM:602638 skos:exactMatch HGNC_symbol:MCM4 Unspecified MCM4 +OMIM:614616 skos:exactMatch UMLS:C3553270 Unspecified diarrhea 6 +OMIM:614615 skos:exactMatch UMLS:C3553264 Unspecified joubert syndrome 17 +OMIM:602639 skos:exactMatch UMLS:C1865092 Unspecified tooth agenesis, selective, 2 +OMIM:614614 skos:exactMatch UMLS:C3281297 Unspecified deafness, autosomal dominant 4b +OMIM:614613 skos:exactMatch UMLS:C3553250 Unspecified acrodysostosis 2 with or without hormone resistance +OMIM:614612 skos:exactMatch HGNC:27263 Unspecified KANK4 +OMIM:614612 skos:exactMatch UMLS:C1823674 Unspecified KANK4 +OMIM:614612 skos:exactMatch HGNC_symbol:KANK4 Unspecified KANK4 +OMIM:614611 skos:exactMatch UMLS:C1823683 Unspecified KANK3 +OMIM:614611 skos:exactMatch HGNC_symbol:KANK3 Unspecified KANK3 +OMIM:614611 skos:exactMatch HGNC:24796 Unspecified KANK3 +OMIM:614610 skos:exactMatch HGNC_symbol:KANK2 Unspecified KANK2 +OMIM:614610 skos:exactMatch HGNC:29300 Unspecified KANK2 +OMIM:614610 skos:exactMatch UMLS:C1428829 Unspecified KANK2 +OMIM:602640 skos:exactMatch HGNC:23536 Unspecified NAALADL1 +OMIM:602640 skos:exactMatch UMLS:C1428129 Unspecified NAALADL1 +OMIM:602640 skos:exactMatch HGNC_symbol:NAALADL1 Unspecified NAALADL1 +OMIM:602620 skos:exactMatch HGNC:9472 Unspecified LGMN +OMIM:602620 skos:exactMatch HGNC_symbol:LGMN Unspecified LGMN +OMIM:602620 skos:exactMatch UMLS:C1456349 Unspecified LGMN +OMIM:602621 skos:exactMatch UMLS:C1413828 Unspecified CXADR +OMIM:602621 skos:exactMatch HGNC_symbol:CXADR Unspecified CXADR +OMIM:602621 skos:exactMatch HGNC:2559 Unspecified CXADR +OMIM:602622 skos:exactMatch HGNC:2958 Unspecified DNASE1L2 +OMIM:602622 skos:exactMatch HGNC_symbol:DNASE1L2 Unspecified DNASE1L2 +OMIM:602622 skos:exactMatch UMLS:C1414109 Unspecified DNASE1L2 +OMIM:602623 skos:exactMatch UMLS:C1414627 Unspecified FKBP5 +OMIM:602623 skos:exactMatch HGNC_symbol:FKBP5 Unspecified FKBP5 +OMIM:602623 skos:exactMatch HGNC:3721 Unspecified FKBP5 +OMIM:614609 skos:exactMatch UMLS:C3553249 Unspecified coffin-siris syndrome 4 +OMIM:614608 skos:exactMatch UMLS:C3553248 Unspecified coffin-siris syndrome 3 +OMIM:602625 skos:exactMatch HGNC:946 Unspecified MAGI1 +OMIM:602625 skos:exactMatch UMLS:C1427865 Unspecified MAGI1 +OMIM:602625 skos:exactMatch HGNC_symbol:MAGI1 Unspecified MAGI1 +OMIM:614607 skos:exactMatch UMLS:C3553247 Unspecified coffin-siris syndrome 2 +OMIM:614607 skos:exactMatch UMLS:C4749148 Unspecified coffin-siris syndrome 2 +OMIM:614606 skos:exactMatch HGNC:23377 Unspecified FOCAD +OMIM:614606 skos:exactMatch UMLS:C1428056 Unspecified FOCAD +OMIM:614606 skos:exactMatch HGNC_symbol:FOCAD Unspecified FOCAD +OMIM:602626 skos:exactMatch HGNC_symbol:IL1RAP Unspecified IL1RAP +OMIM:602626 skos:exactMatch HGNC:5995 Unspecified IL1RAP +OMIM:602626 skos:exactMatch UMLS:C1416397 Unspecified IL1RAP +OMIM:602627 skos:exactMatch HGNC_symbol:CDC6 Unspecified CDC6 +OMIM:602627 skos:exactMatch HGNC:1744 Unspecified CDC6 +OMIM:602627 skos:exactMatch UMLS:C1332725 Unspecified CDC6 +OMIM:614605 skos:exactMatch UMLS:C1427108 Unspecified ZDHHC21 +OMIM:614605 skos:exactMatch HGNC:20750 Unspecified ZDHHC21 +OMIM:614605 skos:exactMatch HGNC_symbol:ZDHHC21 Unspecified ZDHHC21 +OMIM:614604 skos:exactMatch HGNC_symbol:ZDHHC7 Unspecified ZDHHC7 +OMIM:614604 skos:exactMatch UMLS:C1425529 Unspecified ZDHHC7 +OMIM:614604 skos:exactMatch HGNC:18459 Unspecified ZDHHC7 +OMIM:602628 skos:exactMatch HGNC:1928 Unspecified FOXN3 +OMIM:602628 skos:exactMatch HGNC_symbol:FOXN3 Unspecified FOXN3 +OMIM:602628 skos:exactMatch UMLS:C0812250 Unspecified FOXN3 +OMIM:602629 skos:exactMatch UMLS:C1414216 Unspecified dystonia 6, torsion +OMIM:614603 skos:exactMatch UMLS:C1426353 Unspecified DDHD1 +OMIM:614603 skos:exactMatch HGNC_symbol:DDHD1 Unspecified DDHD1 +OMIM:614603 skos:exactMatch HGNC:19714 Unspecified DDHD1 +OMIM:614602 skos:exactMatch UMLS:C3281289 Unspecified trichohepatoenteric syndrome 2 +OMIM:614601 skos:exactMatch HGNC:14104 Unspecified ZNF326 +OMIM:614601 skos:exactMatch UMLS:C1422409 Unspecified ZNF326 +OMIM:614601 skos:exactMatch HGNC_symbol:ZNF326 Unspecified ZNF326 +OMIM:111700 skos:exactMatch HGNC_symbol:RHCE Unspecified RHCE +OMIM:111700 skos:exactMatch UMLS:C1419381 Unspecified RHCE +OMIM:111700 skos:exactMatch HGNC:10008 Unspecified RHCE +OMIM:614600 skos:exactMatch HGNC:31781 Unspecified MIR367 +OMIM:614600 skos:exactMatch UMLS:C1537888 Unspecified MIR367 +OMIM:614600 skos:exactMatch HGNC_symbol:MIR367 Unspecified MIR367 +OMIM:267480 skos:exactMatch UMLS:C1849430 Unspecified respiratory underresponsiveness to hypoxia and hypercapnia +OMIM:602610 skos:exactMatch HGNC:8982 Unspecified PIK3R4 +OMIM:602610 skos:exactMatch UMLS:C1418578 Unspecified PIK3R4 +OMIM:602610 skos:exactMatch HGNC_symbol:PIK3R4 Unspecified PIK3R4 +OMIM:602611 skos:exactMatch UMLS:C1865134 Unspecified spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation +OMIM:602612 skos:exactMatch UMLS:C1865133 Unspecified camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye +OMIM:602613 skos:exactMatch UMLS:C1865117 Unspecified skeletal dysplasia and progressive central nervous system degeneration, lethal +OMIM:602614 skos:exactMatch UMLS:C1334477 Unspecified MAP3K7 +OMIM:602614 skos:exactMatch HGNC:6859 Unspecified MAP3K7 +OMIM:602614 skos:exactMatch HGNC_symbol:MAP3K7 Unspecified MAP3K7 +OMIM:602615 skos:exactMatch HGNC_symbol:TAB1 Unspecified TAB1 +OMIM:602615 skos:exactMatch UMLS:C1334476 Unspecified TAB1 +OMIM:602615 skos:exactMatch HGNC:18157 Unspecified TAB1 +OMIM:602616 skos:exactMatch HGNC_symbol:MGAT2 Unspecified MGAT2 +OMIM:602616 skos:exactMatch HGNC:7045 Unspecified MGAT2 +OMIM:602616 skos:exactMatch UMLS:C1417134 Unspecified MGAT2 +OMIM:602617 skos:exactMatch HGNC:3806 Unspecified FOXE1 +OMIM:602617 skos:exactMatch UMLS:C1414674 Unspecified FOXE1 +OMIM:602617 skos:exactMatch HGNC_symbol:FOXE1 Unspecified FOXE1 +OMIM:602618 skos:exactMatch HGNC:2494 Unspecified CTBP1 +OMIM:602618 skos:exactMatch HGNC_symbol:CTBP1 Unspecified CTBP1 +OMIM:602618 skos:exactMatch UMLS:C1332799 Unspecified CTBP1 +OMIM:602619 skos:exactMatch HGNC:2495 Unspecified CTBP2 +OMIM:602619 skos:exactMatch HGNC_symbol:CTBP2 Unspecified CTBP2 +OMIM:602619 skos:exactMatch UMLS:C1332800 Unspecified CTBP2 +OMIM:602600 skos:exactMatch UMLS:C1416919 Unspecified LRP8 +OMIM:602600 skos:exactMatch HGNC_symbol:LRP8 Unspecified LRP8 +OMIM:602600 skos:exactMatch HGNC:6700 Unspecified LRP8 +OMIM:602601 skos:exactMatch HGNC_symbol:OLR1 Unspecified OLR1 +OMIM:602601 skos:exactMatch UMLS:C1417947 Unspecified OLR1 +OMIM:602601 skos:exactMatch HGNC:8133 Unspecified OLR1 +OMIM:602602 skos:exactMatch HGNC:10707 Unspecified SECTM1 +OMIM:602602 skos:exactMatch UMLS:C1335807 Unspecified SECTM1 +OMIM:602602 skos:exactMatch HGNC_symbol:SECTM1 Unspecified SECTM1 +OMIM:267450 skos:exactMatch UMLS:C1968593 Unspecified respiratory distress syndrome 1n premature infants +OMIM:602603 skos:exactMatch UMLS:C1416987 Unspecified MAGOH +OMIM:602603 skos:exactMatch HGNC:6815 Unspecified MAGOH +OMIM:602603 skos:exactMatch HGNC_symbol:MAGOH Unspecified MAGOH +OMIM:602606 skos:exactMatch UMLS:C1824528 Unspecified CARTPT +OMIM:602606 skos:exactMatch HGNC_symbol:CARTPT Unspecified CARTPT +OMIM:602606 skos:exactMatch HGNC:24323 Unspecified CARTPT +OMIM:602607 skos:exactMatch UMLS:C1420134 Unspecified SLC22A1 +OMIM:602607 skos:exactMatch HGNC:10963 Unspecified SLC22A1 +OMIM:602607 skos:exactMatch HGNC_symbol:SLC22A1 Unspecified SLC22A1 +OMIM:602608 skos:exactMatch UMLS:C1420137 Unspecified SLC22A2 +OMIM:602608 skos:exactMatch HGNC:10966 Unspecified SLC22A2 +OMIM:602608 skos:exactMatch HGNC_symbol:SLC22A2 Unspecified SLC22A2 +OMIM:602609 skos:exactMatch UMLS:C1418574 Unspecified PIK3C3 +OMIM:602609 skos:exactMatch HGNC_symbol:PIK3C3 Unspecified PIK3C3 +OMIM:602609 skos:exactMatch HGNC:8974 Unspecified PIK3C3 +OMIM:600011 skos:exactMatch HGNC:3395 Unspecified EPHB4 +OMIM:600011 skos:exactMatch UMLS:C1414431 Unspecified EPHB4 +OMIM:600011 skos:exactMatch HGNC_symbol:EPHB4 Unspecified EPHB4 +OMIM:602675 skos:exactMatch HGNC:10078 Unspecified RNPEP +OMIM:602675 skos:exactMatch HGNC_symbol:RNPEP Unspecified RNPEP +OMIM:602675 skos:exactMatch UMLS:C1419434 Unspecified RNPEP +OMIM:600010 skos:exactMatch UMLS:C1416457 Unspecified INSM1 +OMIM:600010 skos:exactMatch HGNC_symbol:INSM1 Unspecified INSM1 +OMIM:600010 skos:exactMatch HGNC:6090 Unspecified INSM1 +OMIM:602676 skos:exactMatch UMLS:C1418428 Unspecified PDE6D +OMIM:602676 skos:exactMatch HGNC_symbol:PDE6D Unspecified PDE6D +OMIM:602676 skos:exactMatch UMLS:C3810278 Unspecified PDE6D +OMIM:602676 skos:exactMatch HGNC:8788 Unspecified PDE6D +OMIM:602677 skos:exactMatch UMLS:C1419426 Unspecified RNF5 +OMIM:602677 skos:exactMatch HGNC_symbol:RNF5 Unspecified RNF5 +OMIM:602677 skos:exactMatch HGNC:10068 Unspecified RNF5 +OMIM:602678 skos:exactMatch HGNC:6897 Unspecified MARK3 +OMIM:602678 skos:exactMatch UMLS:C1417034 Unspecified MARK3 +OMIM:602678 skos:exactMatch HGNC_symbol:MARK3 Unspecified MARK3 +OMIM:602679 skos:exactMatch UMLS:C1418398 Unspecified PCYT2 +OMIM:602679 skos:exactMatch HGNC_symbol:PCYT2 Unspecified PCYT2 +OMIM:602679 skos:exactMatch HGNC:8756 Unspecified PCYT2 +OMIM:602679 skos:exactMatch UMLS:C5394037 Unspecified PCYT2 +OMIM:614659 skos:exactMatch HGNC_symbol:AMER2 Unspecified AMER2 +OMIM:614659 skos:exactMatch UMLS:C1825262 Unspecified AMER2 +OMIM:614659 skos:exactMatch HGNC:26360 Unspecified AMER2 +OMIM:614658 skos:exactMatch HGNC_symbol:AMOTL2 Unspecified AMOTL2 +OMIM:614658 skos:exactMatch HGNC:17812 Unspecified AMOTL2 +OMIM:614658 skos:exactMatch UMLS:C1425096 Unspecified AMOTL2 +OMIM:614657 skos:exactMatch HGNC_symbol:AMOTL1 Unspecified AMOTL1 +OMIM:614657 skos:exactMatch HGNC:17811 Unspecified AMOTL1 +OMIM:614657 skos:exactMatch UMLS:C1425095 Unspecified AMOTL1 +OMIM:135600 skos:exactMatch UMLS:C1367472 Unspecified FN1 +OMIM:135600 skos:exactMatch HGNC:3778 Unspecified FN1 +OMIM:135600 skos:exactMatch HGNC_symbol:FN1 Unspecified FN1 +OMIM:614656 skos:exactMatch HGNC_symbol:PALD1 Unspecified PALD1 +OMIM:614656 skos:exactMatch HGNC:23530 Unspecified PALD1 +OMIM:614656 skos:exactMatch UMLS:C1537467 Unspecified PALD1 +OMIM:614655 skos:exactMatch UMLS:C3553381 Unspecified stuttering, familial persistent, 3 +OMIM:614654 skos:exactMatch UMLS:C3553374 Unspecified coenzyme Q10 deficiency, primary, 5 +OMIM:614653 skos:exactMatch UMLS:C3539003 Unspecified neuropathy, hereditary sensory and autonomic, iia 6 +OMIM:614663 skos:exactMatch UMLS:C1423833 Unspecified RALY +OMIM:614663 skos:exactMatch HGNC_symbol:RALY Unspecified RALY +OMIM:614663 skos:exactMatch HGNC:15921 Unspecified RALY +OMIM:612000 skos:exactMatch UMLS:C1540070 Unspecified TRIM66 +OMIM:612000 skos:exactMatch HGNC:29005 Unspecified TRIM66 +OMIM:612000 skos:exactMatch HGNC_symbol:TRIM66 Unspecified TRIM66 +OMIM:612001 skos:exactMatch ORPHA:199318 Unspecified chromosome 15q13.3 deletion syndrome +OMIM:612001 skos:exactMatch UMLS:C2677613 Unspecified chromosome 15q13.3 deletion syndrome +OMIM:614662 skos:exactMatch UMLS:C3553382 Unspecified cortisone reductase deficiency 2 +OMIM:614661 skos:exactMatch HGNC_symbol:PATL2 Unspecified PATL2 +OMIM:614661 skos:exactMatch HGNC:33630 Unspecified PATL2 +OMIM:614661 skos:exactMatch UMLS:C2239800 Unspecified PATL2 +OMIM:614660 skos:exactMatch HGNC_symbol:PATL1 Unspecified PATL1 +OMIM:614660 skos:exactMatch HGNC:26721 Unspecified PATL1 +OMIM:614660 skos:exactMatch UMLS:C2239799 Unspecified PATL1 +OMIM:600009 skos:exactMatch HGNC:5397 Unspecified IFI27 +OMIM:600009 skos:exactMatch HGNC_symbol:IFI27 Unspecified IFI27 +OMIM:600009 skos:exactMatch UMLS:C1415887 Unspecified IFI27 +OMIM:600008 skos:exactMatch HGNC:7861 Unspecified NNMT +OMIM:600008 skos:exactMatch UMLS:C1417748 Unspecified NNMT +OMIM:600008 skos:exactMatch HGNC_symbol:NNMT Unspecified NNMT +OMIM:600007 skos:exactMatch UMLS:C1333567 Unspecified FLT3LG +OMIM:600007 skos:exactMatch HGNC_symbol:FLT3LG Unspecified FLT3LG +OMIM:600007 skos:exactMatch HGNC:3766 Unspecified FLT3LG +OMIM:600006 skos:exactMatch HGNC_symbol:RFX1 Unspecified RFX1 +OMIM:600006 skos:exactMatch UMLS:C1419359 Unspecified RFX1 +OMIM:600006 skos:exactMatch HGNC:9982 Unspecified RFX1 +OMIM:602680 skos:exactMatch HGNC:675 Unspecified ARHGAP5 +OMIM:602680 skos:exactMatch HGNC_symbol:ARHGAP5 Unspecified ARHGAP5 +OMIM:602680 skos:exactMatch UMLS:C1412522 Unspecified ARHGAP5 +OMIM:600005 skos:exactMatch HGNC_symbol:CIITA Unspecified CIITA +OMIM:600005 skos:exactMatch UMLS:C1824738 Unspecified CIITA +OMIM:600005 skos:exactMatch HGNC:7067 Unspecified CIITA +OMIM:602681 skos:exactMatch HGNC:3821 Unspecified FOXO3A +OMIM:602681 skos:exactMatch HGNC_symbol:FOXO3 Unspecified FOXO3A +OMIM:602681 skos:exactMatch UMLS:C1333573 Unspecified FOXO3A +OMIM:600004 skos:exactMatch HGNC_symbol:EPHA5 Unspecified EPHA5 +OMIM:600004 skos:exactMatch HGNC:3389 Unspecified EPHA5 +OMIM:600004 skos:exactMatch UMLS:C1414429 Unspecified EPHA5 +OMIM:602682 skos:exactMatch HGNC_symbol:ADGRB1 Unspecified ADGRB1 +OMIM:602682 skos:exactMatch HGNC:943 Unspecified ADGRB1 +OMIM:602682 skos:exactMatch UMLS:C1332374 Unspecified ADGRB1 +OMIM:600003 skos:exactMatch HGNC:1402 Unspecified CACNB2 +OMIM:600003 skos:exactMatch UMLS:C1413068 Unspecified CACNB2 +OMIM:600003 skos:exactMatch HGNC_symbol:CACNB2 Unspecified CACNB2 +OMIM:602683 skos:exactMatch HGNC_symbol:ADGRB2 Unspecified ADGRB2 +OMIM:602683 skos:exactMatch HGNC:944 Unspecified ADGRB2 +OMIM:602683 skos:exactMatch UMLS:C1332375 Unspecified ADGRB2 +OMIM:600002 skos:exactMatch ORPHA:79106 Unspecified eiken syndrome +OMIM:600002 skos:exactMatch UMLS:C1838779 Unspecified eiken syndrome +OMIM:602684 skos:exactMatch HGNC_symbol:ADGRB3 Unspecified ADGRB3 +OMIM:602684 skos:exactMatch HGNC:945 Unspecified ADGRB3 +OMIM:602684 skos:exactMatch UMLS:C1332376 Unspecified ADGRB3 +OMIM:600001 skos:exactMatch UMLS:C4012454 Unspecified heart defects, congenital, and other congenital anomalies +OMIM:600001 skos:exactMatch UMLS:C3888085 Unspecified heart defects, congenital, and other congenital anomalies +OMIM:602663 skos:exactMatch UMLS:C1538719 Unspecified PRLH +OMIM:602663 skos:exactMatch HGNC_symbol:PRLH Unspecified PRLH +OMIM:602663 skos:exactMatch HGNC:17945 Unspecified PRLH +OMIM:600022 skos:exactMatch HGNC:9602 Unspecified PTGIR +OMIM:600022 skos:exactMatch HGNC_symbol:PTGIR Unspecified PTGIR +OMIM:600022 skos:exactMatch UMLS:C1419070 Unspecified PTGIR +OMIM:602664 skos:exactMatch HGNC_symbol:CASP4 Unspecified CASP4 +OMIM:602664 skos:exactMatch UMLS:C1366513 Unspecified CASP4 +OMIM:602664 skos:exactMatch HGNC:1505 Unspecified CASP4 +OMIM:600021 skos:exactMatch UMLS:C1337107 Unspecified MXD1 +OMIM:600021 skos:exactMatch HGNC_symbol:MXD1 Unspecified MXD1 +OMIM:600021 skos:exactMatch HGNC:6761 Unspecified MXD1 +OMIM:600020 skos:exactMatch HGNC:7534 Unspecified MXI1 +OMIM:600020 skos:exactMatch UMLS:C1334536 Unspecified MXI1 +OMIM:600020 skos:exactMatch HGNC_symbol:MXI1 Unspecified MXI1 +OMIM:602665 skos:exactMatch UMLS:C1332664 Unspecified CASP5 +OMIM:602665 skos:exactMatch HGNC_symbol:CASP5 Unspecified CASP5 +OMIM:602665 skos:exactMatch HGNC:1506 Unspecified CASP5 +OMIM:602666 skos:exactMatch UMLS:C1417557 Unspecified MYO15A +OMIM:602666 skos:exactMatch HGNC_symbol:MYO15A Unspecified MYO15A +OMIM:602666 skos:exactMatch HGNC:7594 Unspecified MYO15A +OMIM:135610 skos:exactMatch UMLS:C1851110 Unspecified fibronectin-like 2 +OMIM:602667 skos:exactMatch HGNC:7652 Unspecified NBN +OMIM:602667 skos:exactMatch UMLS:C1334862 Unspecified NBN +OMIM:602667 skos:exactMatch HGNC_symbol:NBN Unspecified NBN +OMIM:602668 skos:exactMatch UMLS:C2931689 Unspecified myotonic dystrophy 2 +OMIM:602669 skos:exactMatch UMLS:C1418597 Unspecified PITX3 +OMIM:602669 skos:exactMatch HGNC:9006 Unspecified PITX3 +OMIM:602669 skos:exactMatch HGNC_symbol:PITX3 Unspecified PITX3 +OMIM:267430 skos:exactMatch UMLS:C2678367 Unspecified renal tubular dysgenesis +OMIM:267430 skos:exactMatch UMLS:C0266313 Unspecified renal tubular dysgenesis +OMIM:614649 skos:exactMatch HGNC:25358 Unspecified RNF170 +OMIM:614649 skos:exactMatch HGNC_symbol:RNF170 Unspecified RNF170 +OMIM:614649 skos:exactMatch UMLS:C1538867 Unspecified RNF170 +OMIM:614648 skos:exactMatch HGNC_symbol:RALYL Unspecified RALYL +OMIM:614648 skos:exactMatch UMLS:C2239869 Unspecified RALYL +OMIM:614648 skos:exactMatch HGNC:27036 Unspecified RALYL +OMIM:614647 skos:exactMatch HGNC_symbol:COQ6 Unspecified COQ6 +OMIM:614647 skos:exactMatch HGNC:20233 Unspecified COQ6 +OMIM:614647 skos:exactMatch UMLS:C1426796 Unspecified COQ6 +OMIM:614646 skos:exactMatch UMLS:C3553341 Unspecified mean platelet volume/count quantitative trait locus 6 +OMIM:614645 skos:exactMatch UMLS:C3553340 Unspecified mean platelet volume/count quantitative trait locus 5 +OMIM:614644 skos:exactMatch UMLS:C3553339 Unspecified mean platelet volume/count quantitative trait locus 4 +OMIM:614643 skos:exactMatch ORPHA:899 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 +OMIM:614643 skos:exactMatch UMLS:C3553330 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7 +OMIM:614642 skos:exactMatch HGNC_symbol:STARD9 Unspecified STARD9 +OMIM:614642 skos:exactMatch HGNC:19162 Unspecified STARD9 +OMIM:614642 skos:exactMatch UMLS:C1426053 Unspecified STARD9 +OMIM:614652 skos:exactMatch UMLS:C3553358 Unspecified coenzyme Q10 deficiency, primary, 3 +OMIM:614651 skos:exactMatch UMLS:C3553354 Unspecified coenzyme Q10 deficiency, primary, 2 +OMIM:614650 skos:exactMatch UMLS:C3553349 Unspecified coenzyme Q10 deficiency, primary, 6 +OMIM:614650 skos:exactMatch ORPHA:280406 Unspecified coenzyme Q10 deficiency, primary, 6 +OMIM:600019 skos:exactMatch UMLS:C1413837 Unspecified CYB561 +OMIM:600019 skos:exactMatch HGNC_symbol:CYB561 Unspecified CYB561 +OMIM:600019 skos:exactMatch HGNC:2571 Unspecified CYB561 +OMIM:600018 skos:exactMatch HGNC_symbol:OPRM1 Unspecified OPRM1 +OMIM:600018 skos:exactMatch UMLS:C1417965 Unspecified OPRM1 +OMIM:600018 skos:exactMatch HGNC:8156 Unspecified OPRM1 +OMIM:600017 skos:exactMatch UMLS:C1419894 Unspecified SDC4 +OMIM:600017 skos:exactMatch HGNC:10661 Unspecified SDC4 +OMIM:600017 skos:exactMatch HGNC_symbol:SDC4 Unspecified SDC4 +OMIM:600016 skos:exactMatch HGNC_symbol:CNTN1 Unspecified CNTN1 +OMIM:600016 skos:exactMatch HGNC:2171 Unspecified CNTN1 +OMIM:600016 skos:exactMatch UMLS:C1413559 Unspecified CNTN1 +OMIM:602670 skos:exactMatch UMLS:C1418730 Unspecified POLE2 +OMIM:602670 skos:exactMatch HGNC_symbol:POLE2 Unspecified POLE2 +OMIM:602670 skos:exactMatch HGNC:9178 Unspecified POLE2 +OMIM:600014 skos:exactMatch HGNC:11098 Unspecified SMARCA2 +OMIM:600014 skos:exactMatch HGNC_symbol:SMARCA2 Unspecified SMARCA2 +OMIM:600014 skos:exactMatch UMLS:C1335841 Unspecified SMARCA2 +OMIM:602671 skos:exactMatch UMLS:C0342749 Unspecified SLC37A4 +OMIM:602671 skos:exactMatch UMLS:C0268146 Unspecified SLC37A4 +OMIM:602671 skos:exactMatch UMLS:C1414895 Unspecified SLC37A4 +OMIM:602671 skos:exactMatch HGNC_symbol:SLC37A4 Unspecified SLC37A4 +OMIM:602671 skos:exactMatch HGNC:4061 Unspecified SLC37A4 +OMIM:600013 skos:exactMatch HGNC:12856 Unspecified YY1 +OMIM:600013 skos:exactMatch HGNC_symbol:YY1 Unspecified YY1 +OMIM:600013 skos:exactMatch UMLS:C1421565 Unspecified YY1 +OMIM:602672 skos:exactMatch HGNC_symbol:RAB13 Unspecified RAB13 +OMIM:602672 skos:exactMatch HGNC:9762 Unspecified RAB13 +OMIM:602672 skos:exactMatch UMLS:C1419191 Unspecified RAB13 +OMIM:600012 skos:exactMatch HGNC:12486 Unspecified UBE2L1 +OMIM:600012 skos:exactMatch UMLS:C1421284 Unspecified UBE2L1 +OMIM:600012 skos:exactMatch HGNC_symbol:UBE2L1 Unspecified UBE2L1 +OMIM:602673 skos:exactMatch HGNC_symbol:KLK10 Unspecified KLK10 +OMIM:602673 skos:exactMatch UMLS:C1416670 Unspecified KLK10 +OMIM:602673 skos:exactMatch HGNC:6358 Unspecified KLK10 +OMIM:602652 skos:exactMatch HGNC:6367 Unspecified KLK6 +OMIM:602652 skos:exactMatch UMLS:C1416677 Unspecified KLK6 +OMIM:602652 skos:exactMatch HGNC_symbol:KLK6 Unspecified KLK6 +OMIM:602653 skos:exactMatch HGNC:11721 Unspecified TECTB +OMIM:602653 skos:exactMatch UMLS:C1420684 Unspecified TECTB +OMIM:602653 skos:exactMatch HGNC_symbol:TECTB Unspecified TECTB +OMIM:135620 skos:exactMatch HGNC_symbol:ITGA5 Unspecified ITGA5 +OMIM:135620 skos:exactMatch HGNC:6141 Unspecified ITGA5 +OMIM:135620 skos:exactMatch UMLS:C1416488 Unspecified ITGA5 +OMIM:602654 skos:exactMatch HGNC:3591 Unspecified FARP1 +OMIM:602654 skos:exactMatch HGNC_symbol:FARP1 Unspecified FARP1 +OMIM:602654 skos:exactMatch UMLS:C1414533 Unspecified FARP1 +OMIM:602655 skos:exactMatch HGNC:13813 Unspecified SLC4A1AP +OMIM:602655 skos:exactMatch UMLS:C1422208 Unspecified SLC4A1AP +OMIM:602655 skos:exactMatch HGNC_symbol:SLC4A1AP Unspecified SLC4A1AP +OMIM:602656 skos:exactMatch HGNC_symbol:NTHL1 Unspecified NTHL1 +OMIM:602656 skos:exactMatch UMLS:C1417867 Unspecified NTHL1 +OMIM:602656 skos:exactMatch HGNC:8028 Unspecified NTHL1 +OMIM:243450 skos:exactMatch UMLS:C1855714 Unspecified isovaleric acid, inability to smell +OMIM:602658 skos:exactMatch HGNC:8777 Unspecified PDE2A +OMIM:602658 skos:exactMatch UMLS:C1418417 Unspecified PDE2A +OMIM:602658 skos:exactMatch UMLS:C5436894 Unspecified PDE2A +OMIM:602658 skos:exactMatch HGNC_symbol:PDE2A Unspecified PDE2A +OMIM:614639 skos:exactMatch UMLS:C1823912 Unspecified ZBTB46 +OMIM:614639 skos:exactMatch HGNC:16094 Unspecified ZBTB46 +OMIM:614639 skos:exactMatch HGNC_symbol:ZBTB46 Unspecified ZBTB46 +OMIM:602659 skos:exactMatch HGNC:7181 Unspecified MNAT1 +OMIM:602659 skos:exactMatch UMLS:C1417218 Unspecified MNAT1 +OMIM:602659 skos:exactMatch HGNC_symbol:MNAT1 Unspecified MNAT1 +OMIM:614638 skos:exactMatch UMLS:C3470072 Unspecified DESI2 +OMIM:614638 skos:exactMatch HGNC:24264 Unspecified DESI2 +OMIM:614638 skos:exactMatch HGNC_symbol:DESI2 Unspecified DESI2 +OMIM:614637 skos:exactMatch UMLS:C3470073 Unspecified DESI1 +OMIM:614637 skos:exactMatch HGNC:24577 Unspecified DESI1 +OMIM:614637 skos:exactMatch HGNC_symbol:DESI1 Unspecified DESI1 +OMIM:614636 skos:exactMatch HGNC:13879 Unspecified MYO1H +OMIM:614636 skos:exactMatch UMLS:C1422251 Unspecified MYO1H +OMIM:614636 skos:exactMatch HGNC_symbol:MYO1H Unspecified MYO1H +OMIM:614635 skos:exactMatch HGNC_symbol:LINC00538 Unspecified LINC00538 +OMIM:614635 skos:exactMatch HGNC:43655 Unspecified LINC00538 +OMIM:614635 skos:exactMatch UMLS:C3470843 Unspecified LINC00538 +OMIM:614634 skos:exactMatch HGNC_symbol:CEP126 Unspecified CEP126 +OMIM:614634 skos:exactMatch HGNC:29264 Unspecified CEP126 +OMIM:614634 skos:exactMatch UMLS:C1825687 Unspecified CEP126 +OMIM:614633 skos:exactMatch UMLS:C1425679 Unspecified VPS54 +OMIM:614633 skos:exactMatch HGNC:18652 Unspecified VPS54 +OMIM:614633 skos:exactMatch HGNC_symbol:VPS54 Unspecified VPS54 +OMIM:614632 skos:exactMatch UMLS:C3470230 Unspecified UVSSA +OMIM:614632 skos:exactMatch HGNC_symbol:UVSSA Unspecified UVSSA +OMIM:614632 skos:exactMatch HGNC:29304 Unspecified UVSSA +OMIM:614631 skos:exactMatch UMLS:C2829592 Unspecified CRPPA +OMIM:614631 skos:exactMatch HGNC:37276 Unspecified CRPPA +OMIM:614631 skos:exactMatch UMLS:C4015095 Unspecified CRPPA +OMIM:614631 skos:exactMatch HGNC_symbol:CRPPA Unspecified CRPPA +OMIM:614631 skos:exactMatch UMLS:C3553330 Unspecified CRPPA +OMIM:614641 skos:exactMatch HGNC_symbol:LAMP5 Unspecified LAMP5 +OMIM:614641 skos:exactMatch UMLS:C3470555 Unspecified LAMP5 +OMIM:614641 skos:exactMatch HGNC:16097 Unspecified LAMP5 +OMIM:614640 skos:exactMatch UMLS:C3553328 Unspecified uv-sensitive syndrome 3 +OMIM:602660 skos:exactMatch UMLS:C1823554 Unspecified TUBB4B +OMIM:602660 skos:exactMatch HGNC:20771 Unspecified TUBB4B +OMIM:602660 skos:exactMatch HGNC_symbol:TUBB4B Unspecified TUBB4B +OMIM:602661 skos:exactMatch UMLS:C1540126 Unspecified TUBB3 +OMIM:602661 skos:exactMatch HGNC:20772 Unspecified TUBB3 +OMIM:602661 skos:exactMatch HGNC_symbol:TUBB3 Unspecified TUBB3 +OMIM:602662 skos:exactMatch HGNC_symbol:TUBB4A Unspecified TUBB4A +OMIM:602662 skos:exactMatch UMLS:C1540127 Unspecified TUBB4A +OMIM:602662 skos:exactMatch HGNC:20774 Unspecified TUBB4A +OMIM:602641 skos:exactMatch HGNC:3282 Unspecified EIF4A1 +OMIM:602641 skos:exactMatch UMLS:C1414347 Unspecified EIF4A1 +OMIM:602641 skos:exactMatch HGNC_symbol:EIF4A1 Unspecified EIF4A1 +OMIM:600000 skos:exactMatch UMLS:C1838781 Unspecified spondylocamptodactyly +OMIM:135630 skos:exactMatch HGNC:6153 Unspecified ITGB1 +OMIM:135630 skos:exactMatch UMLS:C1416496 Unspecified ITGB1 +OMIM:135630 skos:exactMatch HGNC_symbol:ITGB1 Unspecified ITGB1 +OMIM:602642 skos:exactMatch HGNC:11926 Unspecified TNFSF11 +OMIM:602642 skos:exactMatch UMLS:C1367028 Unspecified TNFSF11 +OMIM:602642 skos:exactMatch HGNC_symbol:TNFSF11 Unspecified TNFSF11 +OMIM:602643 skos:exactMatch HGNC_symbol:TNFRSF11B Unspecified TNFRSF11B +OMIM:602643 skos:exactMatch HGNC:11909 Unspecified TNFRSF11B +OMIM:602643 skos:exactMatch UMLS:C1336645 Unspecified TNFRSF11B +OMIM:602644 skos:exactMatch HGNC_symbol:TSPAN4 Unspecified TSPAN4 +OMIM:602644 skos:exactMatch UMLS:C1540084 Unspecified TSPAN4 +OMIM:602644 skos:exactMatch HGNC:11859 Unspecified TSPAN4 +OMIM:602645 skos:exactMatch UMLS:C1419944 Unspecified SEMA3C +OMIM:602645 skos:exactMatch HGNC:10725 Unspecified SEMA3C +OMIM:602645 skos:exactMatch HGNC_symbol:SEMA3C Unspecified SEMA3C +OMIM:602646 skos:exactMatch HGNC_symbol:GPR35 Unspecified GPR35 +OMIM:602646 skos:exactMatch HGNC:4492 Unspecified GPR35 +OMIM:602646 skos:exactMatch UMLS:C1415229 Unspecified GPR35 +OMIM:602647 skos:exactMatch HGNC_symbol:NXF1 Unspecified NXF1 +OMIM:602647 skos:exactMatch UMLS:C1417898 Unspecified NXF1 +OMIM:602647 skos:exactMatch HGNC:8071 Unspecified NXF1 +OMIM:614629 skos:exactMatch UMLS:C3553308 Unspecified keratoconus 7 +OMIM:602648 skos:exactMatch UMLS:C1332673 Unspecified ACKR2 +OMIM:602648 skos:exactMatch HGNC_symbol:ACKR2 Unspecified ACKR2 +OMIM:602648 skos:exactMatch HGNC:1565 Unspecified ACKR2 +OMIM:614628 skos:exactMatch UMLS:C3553307 Unspecified keratoconus 8 +OMIM:602649 skos:exactMatch HGNC:1982 Unspecified CIRBP +OMIM:602649 skos:exactMatch UMLS:C1413426 Unspecified CIRBP +OMIM:602649 skos:exactMatch HGNC_symbol:CIRBP Unspecified CIRBP +OMIM:614627 skos:exactMatch HGNC_symbol:MIR4449 Unspecified MIR4449 +OMIM:614627 skos:exactMatch UMLS:C3148044 Unspecified MIR4449 +OMIM:614627 skos:exactMatch HGNC:41864 Unspecified MIR4449 +OMIM:614626 skos:exactMatch HGNC:32616 Unspecified SNORA26 +OMIM:614626 skos:exactMatch UMLS:C1822838 Unspecified SNORA26 +OMIM:614626 skos:exactMatch HGNC_symbol:SNORA26 Unspecified SNORA26 +OMIM:614625 skos:exactMatch HGNC_symbol:DANCR Unspecified DANCR +OMIM:614625 skos:exactMatch HGNC:28964 Unspecified DANCR +OMIM:614625 skos:exactMatch UMLS:C3470059 Unspecified DANCR +OMIM:614624 skos:exactMatch UMLS:C3470933 Unspecified MALSU1 +OMIM:614624 skos:exactMatch HGNC:21721 Unspecified MALSU1 +OMIM:614624 skos:exactMatch HGNC_symbol:MALSU1 Unspecified MALSU1 +OMIM:614623 skos:exactMatch UMLS:C3553306 Unspecified keratoconus 6 +OMIM:614622 skos:exactMatch UMLS:C3553302 Unspecified keratoconus 5 +OMIM:614621 skos:exactMatch UMLS:C3553298 Unspecified uv-sensitive syndrome 2 +OMIM:614620 skos:exactMatch UMLS:C1825574 Unspecified IFT140 +OMIM:614620 skos:exactMatch HGNC:29077 Unspecified IFT140 +OMIM:614620 skos:exactMatch HGNC_symbol:IFT140 Unspecified IFT140 +OMIM:614630 skos:exactMatch UMLS:C3471494 Unspecified ADGB +OMIM:614630 skos:exactMatch HGNC:21212 Unspecified ADGB +OMIM:614630 skos:exactMatch HGNC_symbol:ADGB Unspecified ADGB +OMIM:147610 skos:exactMatch UMLS:C1840140 Unspecified iris pigment layer, cleavage of +OMIM:602650 skos:exactMatch HGNC_symbol:SPOP Unspecified SPOP +OMIM:602650 skos:exactMatch HGNC:11254 Unspecified SPOP +OMIM:602650 skos:exactMatch UMLS:C1420368 Unspecified SPOP +OMIM:602650 skos:exactMatch UMLS:C2986382 Unspecified SPOP +OMIM:602650 skos:exactMatch UMLS:C5394221 Unspecified SPOP +OMIM:602650 skos:exactMatch UMLS:C5394218 Unspecified SPOP +OMIM:602651 skos:exactMatch HGNC:7995 Unspecified NRD1 +OMIM:602651 skos:exactMatch UMLS:C1417845 Unspecified NRD1 +OMIM:602651 skos:exactMatch HGNC_symbol:NRDC Unspecified NRD1 +OMIM:600053 skos:exactMatch HGNC_symbol:CNGA3 Unspecified CNGA3 +OMIM:600053 skos:exactMatch UMLS:C1413545 Unspecified CNGA3 +OMIM:600053 skos:exactMatch HGNC:2150 Unspecified CNGA3 +OMIM:267400 skos:exactMatch UMLS:C1849432 Unspecified renal, genital, and middle ear anomalies +OMIM:600052 skos:exactMatch UMLS:C1412289 Unspecified APLNR +OMIM:600052 skos:exactMatch HGNC_symbol:APLNR Unspecified APLNR +OMIM:600052 skos:exactMatch HGNC:339 Unspecified APLNR +OMIM:600051 skos:exactMatch UMLS:C1333343 Unspecified EPS15 +OMIM:600051 skos:exactMatch HGNC_symbol:EPS15 Unspecified EPS15 +OMIM:600051 skos:exactMatch HGNC:3419 Unspecified EPS15 +OMIM:600050 skos:exactMatch HGNC_symbol:MAP3K11 Unspecified MAP3K11 +OMIM:600050 skos:exactMatch HGNC:6850 Unspecified MAP3K11 +OMIM:600050 skos:exactMatch UMLS:C1417010 Unspecified MAP3K11 +OMIM:612039 skos:exactMatch HGNC_symbol:LPCAT4 Unspecified AGPAT7 +OMIM:612039 skos:exactMatch UMLS:C1826613 Unspecified AGPAT7 +OMIM:612039 skos:exactMatch HGNC:30059 Unspecified AGPAT7 +OMIM:612037 skos:exactMatch UMLS:C1823782 Unspecified MUL1 +OMIM:612037 skos:exactMatch HGNC_symbol:MUL1 Unspecified MUL1 +OMIM:612037 skos:exactMatch HGNC:25762 Unspecified MUL1 +OMIM:612038 skos:exactMatch HGNC:22301 Unspecified TMED4 +OMIM:612038 skos:exactMatch HGNC_symbol:TMED4 Unspecified TMED4 +OMIM:612038 skos:exactMatch UMLS:C1539985 Unspecified TMED4 +OMIM:614699 skos:exactMatch UMLS:C3542922 Unspecified immunodeficiency, common variable, 7 +OMIM:614698 skos:exactMatch UMLS:C3469918 Unspecified COX20 +OMIM:614698 skos:exactMatch HGNC_symbol:COX20 Unspecified COX20 +OMIM:614698 skos:exactMatch HGNC:26970 Unspecified COX20 +OMIM:614698 skos:exactMatch UMLS:C5436694 Unspecified COX20 +OMIM:612035 skos:exactMatch HGNC:21022 Unspecified AARS2 +OMIM:612035 skos:exactMatch UMLS:C1427250 Unspecified AARS2 +OMIM:612035 skos:exactMatch HGNC_symbol:AARS2 Unspecified AARS2 +OMIM:612036 skos:exactMatch HGNC_symbol:PARS2 Unspecified PARS2 +OMIM:612036 skos:exactMatch HGNC:30563 Unspecified PARS2 +OMIM:612036 skos:exactMatch UMLS:C5193099 Unspecified PARS2 +OMIM:612036 skos:exactMatch UMLS:C1826544 Unspecified PARS2 +OMIM:614697 skos:exactMatch HGNC_symbol:KATNAL2 Unspecified KATNAL2 +OMIM:614697 skos:exactMatch HGNC:25387 Unspecified KATNAL2 +OMIM:614697 skos:exactMatch UMLS:C1537433 Unspecified KATNAL2 +OMIM:612044 skos:exactMatch HGNC:31786 Unspecified MIRN372 +OMIM:612044 skos:exactMatch HGNC_symbol:MIR372 Unspecified MIRN372 +OMIM:612044 skos:exactMatch UMLS:C1537893 Unspecified MIRN372 +OMIM:612045 skos:exactMatch HGNC:14326 Unspecified C1QTNF3 +OMIM:612045 skos:exactMatch UMLS:C1422565 Unspecified C1QTNF3 +OMIM:612045 skos:exactMatch HGNC_symbol:C1QTNF3 Unspecified C1QTNF3 +OMIM:612042 skos:exactMatch UMLS:C2677576 Unspecified recombination rate quantitative trait locus 1 +OMIM:612043 skos:exactMatch HGNC:31785 Unspecified MIR371A +OMIM:612043 skos:exactMatch HGNC_symbol:MIR371A Unspecified MIR371A +OMIM:612043 skos:exactMatch UMLS:C1537892 Unspecified MIR371A +OMIM:612040 skos:exactMatch HGNC:26032 Unspecified LPCAT2 +OMIM:612040 skos:exactMatch HGNC_symbol:LPCAT2 Unspecified LPCAT2 +OMIM:612040 skos:exactMatch UMLS:C1825852 Unspecified LPCAT2 +OMIM:612041 skos:exactMatch HGNC:27729 Unspecified RNF212 +OMIM:612041 skos:exactMatch UMLS:C2239897 Unspecified RNF212 +OMIM:612041 skos:exactMatch HGNC_symbol:RNF212 Unspecified RNF212 +OMIM:147620 skos:exactMatch HGNC:6018 Unspecified IL6 +OMIM:147620 skos:exactMatch UMLS:C4016228 Unspecified IL6 +OMIM:147620 skos:exactMatch UMLS:C4016229 Unspecified IL6 +OMIM:147620 skos:exactMatch UMLS:C2675113 Unspecified IL6 +OMIM:147620 skos:exactMatch UMLS:C3538945 Unspecified IL6 +OMIM:147620 skos:exactMatch UMLS:C1840138 Unspecified IL6 +OMIM:147620 skos:exactMatch HGNC_symbol:IL6 Unspecified IL6 +OMIM:147620 skos:exactMatch UMLS:C1334122 Unspecified IL6 +OMIM:147620 skos:exactMatch UMLS:C3837967 Unspecified IL6 +OMIM:147620 skos:exactMatch UMLS:C3837968 Unspecified IL6 +OMIM:147625 skos:exactMatch HGNC_symbol:ICA1 Unspecified ICA1 +OMIM:147625 skos:exactMatch HGNC:5343 Unspecified ICA1 +OMIM:147625 skos:exactMatch UMLS:C1415841 Unspecified ICA1 +OMIM:600049 skos:exactMatch UMLS:C1838720 Unspecified MDS1 +OMIM:600049 skos:exactMatch UMLS:C1417091 Unspecified MDS1 +OMIM:600047 skos:exactMatch HGNC_symbol:ABCA2 Unspecified ABCA2 +OMIM:600047 skos:exactMatch UMLS:C2986382 Unspecified ABCA2 +OMIM:600047 skos:exactMatch HGNC:32 Unspecified ABCA2 +OMIM:600047 skos:exactMatch UMLS:C1412061 Unspecified ABCA2 +OMIM:600047 skos:exactMatch UMLS:C5394565 Unspecified ABCA2 +OMIM:600047 skos:exactMatch UMLS:C5394564 Unspecified ABCA2 +OMIM:600046 skos:exactMatch HGNC_symbol:ABCA1 Unspecified ABCA1 +OMIM:600046 skos:exactMatch HGNC:29 Unspecified ABCA1 +OMIM:600046 skos:exactMatch UMLS:C1412058 Unspecified ABCA1 +OMIM:600045 skos:exactMatch HGNC_symbol:DDB1 Unspecified DDB1 +OMIM:600045 skos:exactMatch HGNC:2717 Unspecified DDB1 +OMIM:600045 skos:exactMatch UMLS:C1413941 Unspecified DDB1 +OMIM:600066 skos:exactMatch HGNC_symbol:EPHA6 Unspecified EPHA6 +OMIM:600066 skos:exactMatch UMLS:C1539362 Unspecified EPHA6 +OMIM:600066 skos:exactMatch HGNC:19296 Unspecified EPHA6 +OMIM:600065 skos:exactMatch HGNC_symbol:ITGB2 Unspecified ITGB2 +OMIM:600065 skos:exactMatch UMLS:C1334146 Unspecified ITGB2 +OMIM:600065 skos:exactMatch HGNC:6155 Unspecified ITGB2 +OMIM:243440 skos:exactMatch UMLS:C0432364 Unspecified isotretinoin embryopathy-like syndrome +OMIM:600064 skos:exactMatch HGNC_symbol:KRTAP11-1 Unspecified KRTAP11-1 +OMIM:600064 skos:exactMatch UMLS:C1425890 Unspecified KRTAP11-1 +OMIM:600064 skos:exactMatch HGNC:18922 Unspecified KRTAP11-1 +OMIM:600063 skos:exactMatch UMLS:C1823506 Unspecified TROVE2 +OMIM:600063 skos:exactMatch HGNC_symbol:RO60 Unspecified TROVE2 +OMIM:600063 skos:exactMatch HGNC:11313 Unspecified TROVE2 +OMIM:600062 skos:exactMatch HGNC:9813 Unspecified RAD23B +OMIM:600062 skos:exactMatch UMLS:C1419237 Unspecified RAD23B +OMIM:600062 skos:exactMatch HGNC_symbol:RAD23B Unspecified RAD23B +OMIM:159600 skos:exactMatch UMLS:C1834581 Unspecified myoclonic epilepsy, hartung iia +OMIM:600061 skos:exactMatch HGNC:9812 Unspecified RAD23A +OMIM:600061 skos:exactMatch UMLS:C1419236 Unspecified RAD23A +OMIM:600061 skos:exactMatch HGNC_symbol:RAD23A Unspecified RAD23A +OMIM:600060 skos:exactMatch UMLS:C1838701 Unspecified deafness, autosomal recessive 2 +OMIM:612028 skos:exactMatch HGNC_symbol:FITM1 Unspecified FITM1 +OMIM:612028 skos:exactMatch HGNC:33714 Unspecified FITM1 +OMIM:612028 skos:exactMatch UMLS:C2677581 Unspecified FITM1 +OMIM:612029 skos:exactMatch HGNC:16135 Unspecified FITM2 +OMIM:612029 skos:exactMatch HGNC_symbol:FITM2 Unspecified FITM2 +OMIM:612029 skos:exactMatch UMLS:C1424015 Unspecified FITM2 +OMIM:612026 skos:exactMatch HGNC_symbol:LARP7 Unspecified LARP7 +OMIM:612026 skos:exactMatch HGNC:24912 Unspecified LARP7 +OMIM:612026 skos:exactMatch UMLS:C1825792 Unspecified LARP7 +OMIM:614689 skos:exactMatch UMLS:C3553493 Unspecified soluble interleukin-6 receptor, serum level of, quantitative trait locus +OMIM:612027 skos:exactMatch HGNC:18707 Unspecified GRASP +OMIM:612027 skos:exactMatch HGNC_symbol:TAMALIN Unspecified GRASP +OMIM:612027 skos:exactMatch UMLS:C1425726 Unspecified GRASP +OMIM:614688 skos:exactMatch UMLS:C3541340 Unspecified pontine tegmental cap dysplasia +OMIM:612024 skos:exactMatch UMLS:C1826524 Unspecified OTUD7A +OMIM:612024 skos:exactMatch HGNC_symbol:OTUD7A Unspecified OTUD7A +OMIM:612024 skos:exactMatch HGNC:20718 Unspecified OTUD7A +OMIM:614687 skos:exactMatch UMLS:C3553476 Unspecified alar cleft, isolated +OMIM:614686 skos:exactMatch HGNC:18789 Unspecified FAM50B +OMIM:614686 skos:exactMatch HGNC_symbol:FAM50B Unspecified FAM50B +OMIM:614686 skos:exactMatch UMLS:C1539455 Unspecified FAM50B +OMIM:614686 skos:exactMatch UMLS:C4225401 Unspecified FAM50B +OMIM:612025 skos:exactMatch HGNC:21071 Unspecified IYD +OMIM:612025 skos:exactMatch UMLS:C1825631 Unspecified IYD +OMIM:612025 skos:exactMatch HGNC_symbol:IYD Unspecified IYD +OMIM:612033 skos:exactMatch HGNC:28707 Unspecified PAGR1 +OMIM:612033 skos:exactMatch HGNC_symbol:PAGR1 Unspecified PAGR1 +OMIM:612033 skos:exactMatch UMLS:C1540252 Unspecified PAGR1 +OMIM:612034 skos:exactMatch UMLS:C1332100 Unspecified APC2 +OMIM:612034 skos:exactMatch HGNC:24036 Unspecified APC2 +OMIM:612034 skos:exactMatch HGNC_symbol:APC2 Unspecified APC2 +OMIM:614695 skos:exactMatch HGNC_symbol:RPRD2 Unspecified RPRD2 +OMIM:614695 skos:exactMatch HGNC:29039 Unspecified RPRD2 +OMIM:614695 skos:exactMatch UMLS:C1825661 Unspecified RPRD2 +OMIM:612031 skos:exactMatch HGNC_symbol:INHBE Unspecified INHBE +OMIM:612031 skos:exactMatch HGNC:24029 Unspecified INHBE +OMIM:612031 skos:exactMatch UMLS:C1428338 Unspecified INHBE +OMIM:614694 skos:exactMatch HGNC:16209 Unspecified RPRD1B +OMIM:614694 skos:exactMatch UMLS:C1424086 Unspecified RPRD1B +OMIM:614694 skos:exactMatch HGNC_symbol:RPRD1B Unspecified RPRD1B +OMIM:612032 skos:exactMatch UMLS:C2239360 Unspecified DPY30 +OMIM:612032 skos:exactMatch HGNC:24590 Unspecified DPY30 +OMIM:612032 skos:exactMatch HGNC_symbol:DPY30 Unspecified DPY30 +OMIM:614693 skos:exactMatch UMLS:C2239910 Unspecified ATMIN +OMIM:614693 skos:exactMatch HGNC:29034 Unspecified ATMIN +OMIM:614693 skos:exactMatch HGNC_symbol:ATMIN Unspecified ATMIN +OMIM:614692 skos:exactMatch UMLS:C3553496 Unspecified membranous nephropathy, susceptibility to +OMIM:614691 skos:exactMatch UMLS:C3553494 Unspecified cataract 38 +OMIM:612030 skos:exactMatch UMLS:C2677580 Unspecified coronary heart disease, susceptibility to, 9 +OMIM:614690 skos:exactMatch HGNC_symbol:C4orf48 Unspecified C4ORF48 +OMIM:614690 skos:exactMatch UMLS:C2681226 Unspecified C4ORF48 +OMIM:614690 skos:exactMatch HGNC:34437 Unspecified C4ORF48 +OMIM:147630 skos:exactMatch UMLS:C1578917 Unspecified insulinomatosis and diabetes mellitus +OMIM:600059 skos:exactMatch UMLS:C1838702 Unspecified retinitis pigmentosa 13 +OMIM:600059 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 13 +OMIM:600058 skos:exactMatch HGNC_symbol:TXK Unspecified TXK +OMIM:600058 skos:exactMatch HGNC:12434 Unspecified TXK +OMIM:600058 skos:exactMatch UMLS:C1421246 Unspecified TXK +OMIM:600057 skos:exactMatch UMLS:C1838703 Unspecified bladder exstrophy and epispadias complex +OMIM:600057 skos:exactMatch ORPHA:93930 Unspecified bladder exstrophy and epispadias complex +OMIM:600057 skos:exactMatch ORPHA:322 Unspecified bladder exstrophy and epispadias complex +OMIM:602696 skos:exactMatch HGNC_symbol:MCM5 Unspecified MCM5 +OMIM:602696 skos:exactMatch UMLS:C1334492 Unspecified MCM5 +OMIM:602696 skos:exactMatch HGNC:6948 Unspecified MCM5 +OMIM:600033 skos:exactMatch UMLS:C1420706 Unspecified TFPI2 +OMIM:600033 skos:exactMatch HGNC_symbol:TFPI2 Unspecified TFPI2 +OMIM:600033 skos:exactMatch HGNC:11761 Unspecified TFPI2 +OMIM:602697 skos:exactMatch HGNC_symbol:P2RY11 Unspecified P2RY11 +OMIM:602697 skos:exactMatch HGNC:8540 Unspecified P2RY11 +OMIM:602697 skos:exactMatch UMLS:C1418218 Unspecified P2RY11 +OMIM:600031 skos:exactMatch HGNC_symbol:CHIT1 Unspecified CHIT1 +OMIM:600031 skos:exactMatch HGNC:1936 Unspecified CHIT1 +OMIM:600031 skos:exactMatch UMLS:C1413391 Unspecified CHIT1 +OMIM:602698 skos:exactMatch UMLS:C1417696 Unspecified NFATC3 +OMIM:602698 skos:exactMatch HGNC_symbol:NFATC3 Unspecified NFATC3 +OMIM:602698 skos:exactMatch HGNC:7777 Unspecified NFATC3 +OMIM:600030 skos:exactMatch UMLS:C1414080 Unspecified DLX6 +OMIM:600030 skos:exactMatch HGNC:2919 Unspecified DLX6 +OMIM:600030 skos:exactMatch HGNC_symbol:DLX6 Unspecified DLX6 +OMIM:602699 skos:exactMatch UMLS:C1417697 Unspecified NFATC4 +OMIM:602699 skos:exactMatch HGNC_symbol:NFATC4 Unspecified NFATC4 +OMIM:602699 skos:exactMatch HGNC:7778 Unspecified NFATC4 +OMIM:133000 skos:exactMatch UMLS:C1851502 Unspecified erythema palmare hereditarium +OMIM:612019 skos:exactMatch UMLS:C1825625 Unspecified ISX +OMIM:612019 skos:exactMatch HGNC:28084 Unspecified ISX +OMIM:612019 skos:exactMatch HGNC_symbol:ISX Unspecified ISX +OMIM:612017 skos:exactMatch UMLS:C2677588 Unspecified pyloric stenosis, infantile hypertrophic, 3 +OMIM:612018 skos:exactMatch UMLS:C4310806 Unspecified cataract 47 +OMIM:614679 skos:exactMatch UMLS:C3542550 Unspecified ciliary dyskinesia, primary, 17 +OMIM:614678 skos:exactMatch UMLS:C3553449 Unspecified pontocerebellar hypoplasia, iia 1b +OMIM:612015 skos:exactMatch UMLS:C2677590 Unspecified congenital disorder of glycosylation, iia in +OMIM:612016 skos:exactMatch ORPHA:139485 Unspecified coenzyme Q10 deficiency, primary, 4 +OMIM:612016 skos:exactMatch UMLS:C2677589 Unspecified coenzyme Q10 deficiency, primary, 4 +OMIM:614677 skos:exactMatch UMLS:C1824631 Unspecified CCDC103 +OMIM:614677 skos:exactMatch HGNC_symbol:CCDC103 Unspecified CCDC103 +OMIM:614677 skos:exactMatch HGNC:32700 Unspecified CCDC103 +OMIM:612013 skos:exactMatch UMLS:C2240338 Unspecified CC2D2A +OMIM:612013 skos:exactMatch UMLS:C5436837 Unspecified CC2D2A +OMIM:612013 skos:exactMatch HGNC:29253 Unspecified CC2D2A +OMIM:612013 skos:exactMatch UMLS:C3280898 Unspecified CC2D2A +OMIM:612013 skos:exactMatch HGNC_symbol:CC2D2A Unspecified CC2D2A +OMIM:612013 skos:exactMatch UMLS:C2676790 Unspecified CC2D2A +OMIM:612013 skos:exactMatch UMLS:C2676788 Unspecified CC2D2A +OMIM:614676 skos:exactMatch UMLS:C3553442 Unspecified cardiomyopathy, familial hypertrophic, 21 +OMIM:612014 skos:exactMatch HGNC_symbol:TTC21B Unspecified TTC21B +OMIM:612014 skos:exactMatch UMLS:C1540117 Unspecified TTC21B +OMIM:612014 skos:exactMatch HGNC:25660 Unspecified TTC21B +OMIM:614675 skos:exactMatch ORPHA:314399 Unspecified bone marrow failure syndrome 1 +OMIM:614675 skos:exactMatch UMLS:C3808553 Unspecified bone marrow failure syndrome 1 +OMIM:147640 skos:exactMatch HGNC:5434 Unspecified IFNB1 +OMIM:147640 skos:exactMatch HGNC_symbol:IFNB1 Unspecified IFNB1 +OMIM:147640 skos:exactMatch UMLS:C1415912 Unspecified IFNB1 +OMIM:614685 skos:exactMatch HGNC_symbol:ZNF597 Unspecified ZNF597 +OMIM:614685 skos:exactMatch UMLS:C1428608 Unspecified ZNF597 +OMIM:614685 skos:exactMatch HGNC:26573 Unspecified ZNF597 +OMIM:612022 skos:exactMatch HGNC:27346 Unspecified OTUD1 +OMIM:612022 skos:exactMatch HGNC_symbol:OTUD1 Unspecified OTUD1 +OMIM:612022 skos:exactMatch UMLS:C1538555 Unspecified OTUD1 +OMIM:612023 skos:exactMatch UMLS:C1823894 Unspecified YOD1 +OMIM:612023 skos:exactMatch HGNC:25035 Unspecified YOD1 +OMIM:612023 skos:exactMatch HGNC_symbol:YOD1 Unspecified YOD1 +OMIM:614684 skos:exactMatch UMLS:C3553465 Unspecified hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes +OMIM:612020 skos:exactMatch UMLS:C2677586 Unspecified spastic paraplegia 39, autosomal recessive +OMIM:614683 skos:exactMatch HGNC:28249 Unspecified PHYKPL +OMIM:614683 skos:exactMatch HGNC_symbol:PHYKPL Unspecified PHYKPL +OMIM:614683 skos:exactMatch UMLS:C1826614 Unspecified PHYKPL +OMIM:612021 skos:exactMatch HGNC_symbol:OTUD6B Unspecified OTUD6B +OMIM:612021 skos:exactMatch HGNC:24281 Unspecified OTUD6B +OMIM:612021 skos:exactMatch UMLS:C1826523 Unspecified OTUD6B +OMIM:614682 skos:exactMatch HGNC:14404 Unspecified AGXT2L1 +OMIM:614682 skos:exactMatch HGNC_symbol:ETNPPL Unspecified AGXT2L1 +OMIM:614682 skos:exactMatch UMLS:C1422624 Unspecified AGXT2L1 +OMIM:614681 skos:exactMatch HGNC_symbol:HYKK Unspecified AGPHD1 +OMIM:614681 skos:exactMatch UMLS:C2829607 Unspecified AGPHD1 +OMIM:614681 skos:exactMatch HGNC:34403 Unspecified AGPHD1 +OMIM:614680 skos:exactMatch UMLS:C3553462 Unspecified influenza, severe, susceptibility to +OMIM:600029 skos:exactMatch UMLS:C1414075 Unspecified DLX1 +OMIM:600029 skos:exactMatch HGNC:2914 Unspecified DLX1 +OMIM:600029 skos:exactMatch HGNC_symbol:DLX1 Unspecified DLX1 +OMIM:600028 skos:exactMatch UMLS:C1414079 Unspecified DLX5 +OMIM:600028 skos:exactMatch HGNC:2918 Unspecified DLX5 +OMIM:600028 skos:exactMatch HGNC_symbol:DLX5 Unspecified DLX5 +OMIM:600027 skos:exactMatch HGNC:11169 Unspecified SNTB2 +OMIM:600027 skos:exactMatch UMLS:C1420298 Unspecified SNTB2 +OMIM:600027 skos:exactMatch HGNC_symbol:SNTB2 Unspecified SNTB2 +OMIM:600026 skos:exactMatch HGNC:11168 Unspecified SNTB1 +OMIM:600026 skos:exactMatch UMLS:C1420297 Unspecified SNTB1 +OMIM:600026 skos:exactMatch HGNC_symbol:SNTB1 Unspecified SNTB1 +OMIM:600025 skos:exactMatch UMLS:C1416692 Unspecified KLC1 +OMIM:600025 skos:exactMatch HGNC_symbol:KLC1 Unspecified KLC1 +OMIM:600025 skos:exactMatch HGNC:6387 Unspecified KLC1 +OMIM:600024 skos:exactMatch UMLS:C0748397 Unspecified LBR +OMIM:600024 skos:exactMatch UMLS:C0030779 Unspecified LBR +OMIM:600024 skos:exactMatch UMLS:C2931048 Unspecified LBR +OMIM:600024 skos:exactMatch UMLS:C1416802 Unspecified LBR +OMIM:600024 skos:exactMatch UMLS:C4747922 Unspecified LBR +OMIM:600024 skos:exactMatch HGNC_symbol:LBR Unspecified LBR +OMIM:600024 skos:exactMatch HGNC:6518 Unspecified LBR +OMIM:600023 skos:exactMatch UMLS:C0809936 Unspecified CDH11 +OMIM:600023 skos:exactMatch UMLS:C1413269 Unspecified CDH11 +OMIM:600023 skos:exactMatch HGNC:1750 Unspecified CDH11 +OMIM:600023 skos:exactMatch HGNC_symbol:CDH11 Unspecified CDH11 +OMIM:600044 skos:exactMatch UMLS:C0812443 Unspecified THPO +OMIM:600044 skos:exactMatch HGNC_symbol:THPO Unspecified THPO +OMIM:600044 skos:exactMatch HGNC:11795 Unspecified THPO +OMIM:602685 skos:exactMatch UMLS:C1864549 Unspecified mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration +OMIM:602686 skos:exactMatch UMLS:C1416958 Unspecified MAD1L1 +OMIM:602686 skos:exactMatch HGNC_symbol:MAD1L1 Unspecified MAD1L1 +OMIM:602686 skos:exactMatch HGNC:6762 Unspecified MAD1L1 +OMIM:600043 skos:exactMatch UMLS:C1420459 Unspecified SULT1E1 +OMIM:600043 skos:exactMatch HGNC:11377 Unspecified SULT1E1 +OMIM:600043 skos:exactMatch HGNC_symbol:SULT1E1 Unspecified SULT1E1 +OMIM:600042 skos:exactMatch HGNC:6933 Unspecified MC5R +OMIM:600042 skos:exactMatch UMLS:C1417065 Unspecified MC5R +OMIM:600042 skos:exactMatch HGNC_symbol:MC5R Unspecified MC5R +OMIM:600041 skos:exactMatch HGNC:8541 Unspecified P2RY2 +OMIM:600041 skos:exactMatch UMLS:C1418219 Unspecified P2RY2 +OMIM:600041 skos:exactMatch HGNC_symbol:P2RY2 Unspecified P2RY2 +OMIM:602688 skos:exactMatch HGNC:5034 Unspecified HNRNPAB +OMIM:602688 skos:exactMatch UMLS:C1333921 Unspecified HNRNPAB +OMIM:602688 skos:exactMatch HGNC_symbol:HNRNPAB Unspecified HNRNPAB +OMIM:602689 skos:exactMatch UMLS:C1420280 Unspecified FSCN1 +OMIM:602689 skos:exactMatch HGNC_symbol:FSCN1 Unspecified FSCN1 +OMIM:602689 skos:exactMatch HGNC:11148 Unspecified FSCN1 +OMIM:600040 skos:exactMatch HGNC_symbol:BAX Unspecified BAX +OMIM:600040 skos:exactMatch HGNC:959 Unspecified BAX +OMIM:600040 skos:exactMatch UMLS:C0812198 Unspecified BAX +OMIM:612008 skos:exactMatch UMLS:C2677604 Unspecified celiac disease, susceptibility to, 10 +OMIM:612009 skos:exactMatch UMLS:C2677603 Unspecified celiac disease, susceptibility to, 11 +OMIM:612006 skos:exactMatch UMLS:C2677606 Unspecified celiac disease, susceptibility to, 8 +OMIM:614669 skos:exactMatch UMLS:C3553404 Unspecified auriculocondylar syndrome 2 +OMIM:612007 skos:exactMatch UMLS:C2677605 Unspecified celiac disease, susceptibility to, 9 +OMIM:614668 skos:exactMatch UMLS:C3553403 Unspecified stuttering, familial persistent, 4 +OMIM:612004 skos:exactMatch UMLS:C2677608 Unspecified thrombocytopenia 4 +OMIM:614667 skos:exactMatch HGNC:19261 Unspecified MTO1 +OMIM:614667 skos:exactMatch UMLS:C1426126 Unspecified MTO1 +OMIM:614667 skos:exactMatch HGNC_symbol:MTO1 Unspecified MTO1 +OMIM:612005 skos:exactMatch UMLS:C2677607 Unspecified celiac disease, susceptibility to, 7 +OMIM:614666 skos:exactMatch UMLS:C1824603 Unspecified CCDC78 +OMIM:614666 skos:exactMatch HGNC:14153 Unspecified CCDC78 +OMIM:614666 skos:exactMatch HGNC_symbol:CCDC78 Unspecified CCDC78 +OMIM:612002 skos:exactMatch HGNC_symbol:DEPDC1 Unspecified DEPDC1 +OMIM:612002 skos:exactMatch HGNC:22949 Unspecified DEPDC1 +OMIM:612002 skos:exactMatch UMLS:C1427804 Unspecified DEPDC1 +OMIM:614665 skos:exactMatch UMLS:C2939175 Unspecified meconium ileus +OMIM:614664 skos:exactMatch HGNC_symbol:TREML4 Unspecified TREML4 +OMIM:614664 skos:exactMatch UMLS:C1540051 Unspecified TREML4 +OMIM:614664 skos:exactMatch HGNC:30807 Unspecified TREML4 +OMIM:612003 skos:exactMatch HGNC:11960 Unspecified GIGYF2 +OMIM:612003 skos:exactMatch HGNC_symbol:GIGYF2 Unspecified GIGYF2 +OMIM:612003 skos:exactMatch UMLS:C1420838 Unspecified GIGYF2 +OMIM:612011 skos:exactMatch UMLS:C2677601 Unspecified celiac disease, susceptibility to, 13 +OMIM:614674 skos:exactMatch UMLS:C3553418 Unspecified periodic fever, menstrual cycle-dependent +OMIM:147650 skos:exactMatch UMLS:C3150909 Unspecified IDH2 +OMIM:147650 skos:exactMatch UMLS:C1415877 Unspecified IDH2 +OMIM:147650 skos:exactMatch HGNC_symbol:IDH2 Unspecified IDH2 +OMIM:147650 skos:exactMatch HGNC:5383 Unspecified IDH2 +OMIM:612012 skos:exactMatch UMLS:C1427118 Unspecified ZFYVE26 +OMIM:612012 skos:exactMatch HGNC:20761 Unspecified ZFYVE26 +OMIM:612012 skos:exactMatch HGNC_symbol:ZFYVE26 Unspecified ZFYVE26 +OMIM:614673 skos:exactMatch UMLS:C3553414 Unspecified microcephaly 8, primary, autosomal recessive +OMIM:614672 skos:exactMatch UMLS:C3553409 Unspecified cardiomyopathy, dilated, 2b +OMIM:614671 skos:exactMatch UMLS:C3553407 Unspecified chromosome 16p11.2 duplication syndrome +OMIM:614671 skos:exactMatch UMLS:C3553408 Unspecified chromosome 16p11.2 duplication syndrome +OMIM:614671 skos:exactMatch ORPHA:370079 Unspecified chromosome 16p11.2 duplication syndrome +OMIM:612010 skos:exactMatch UMLS:C2677602 Unspecified celiac disease, susceptibility to, 12 +OMIM:614670 skos:exactMatch UMLS:C3553406 Unspecified peripartum cardiomyopathy, susceptibility to +OMIM:602690 skos:exactMatch HGNC_symbol:SDHD Unspecified SDHD +OMIM:602690 skos:exactMatch UMLS:C1419909 Unspecified SDHD +OMIM:602690 skos:exactMatch HGNC:10683 Unspecified SDHD +OMIM:600039 skos:exactMatch HGNC:992 Unspecified BCL2L1 +OMIM:600039 skos:exactMatch HGNC_symbol:BCL2L1 Unspecified BCL2L1 +OMIM:600039 skos:exactMatch UMLS:C1332397 Unspecified BCL2L1 +OMIM:600038 skos:exactMatch HGNC:6906 Unspecified MATK +OMIM:600038 skos:exactMatch HGNC_symbol:MATK Unspecified MATK +OMIM:600038 skos:exactMatch UMLS:C1334485 Unspecified MATK +OMIM:602691 skos:exactMatch HGNC_symbol:NCOA1 Unspecified NCOA1 +OMIM:602691 skos:exactMatch HGNC:7668 Unspecified NCOA1 +OMIM:602691 skos:exactMatch UMLS:C1334866 Unspecified NCOA1 +OMIM:600037 skos:exactMatch UMLS:C3151440 Unspecified OTX2 +OMIM:600037 skos:exactMatch UMLS:C4225589 Unspecified OTX2 +OMIM:600037 skos:exactMatch HGNC_symbol:OTX2 Unspecified OTX2 +OMIM:600037 skos:exactMatch UMLS:C1864690 Unspecified OTX2 +OMIM:600037 skos:exactMatch HGNC:8522 Unspecified OTX2 +OMIM:600037 skos:exactMatch UMLS:C3149814 Unspecified OTX2 +OMIM:600037 skos:exactMatch UMLS:C1418202 Unspecified OTX2 +OMIM:602692 skos:exactMatch HGNC_symbol:GLIPR1 Unspecified GLIPR1 +OMIM:602692 skos:exactMatch UMLS:C1424680 Unspecified GLIPR1 +OMIM:602692 skos:exactMatch HGNC:17001 Unspecified GLIPR1 +OMIM:602693 skos:exactMatch UMLS:C1334490 Unspecified MCM3 +OMIM:602693 skos:exactMatch HGNC:6945 Unspecified MCM3 +OMIM:602693 skos:exactMatch HGNC_symbol:MCM3 Unspecified MCM3 +OMIM:600036 skos:exactMatch HGNC_symbol:OTX1 Unspecified OTX1 +OMIM:600036 skos:exactMatch HGNC:8521 Unspecified OTX1 +OMIM:600036 skos:exactMatch UMLS:C1418201 Unspecified OTX1 +OMIM:600035 skos:exactMatch HGNC:3341 Unspecified EMX2 +OMIM:600035 skos:exactMatch UMLS:C1414394 Unspecified EMX2 +OMIM:600035 skos:exactMatch HGNC_symbol:EMX2 Unspecified EMX2 +OMIM:602694 skos:exactMatch HGNC_symbol:NDUFS4 Unspecified NDUFS4 +OMIM:602694 skos:exactMatch UMLS:C1838979 Unspecified NDUFS4 +OMIM:602694 skos:exactMatch HGNC:7711 Unspecified NDUFS4 +OMIM:602694 skos:exactMatch UMLS:C1417647 Unspecified NDUFS4 +OMIM:602695 skos:exactMatch HGNC_symbol:TNFSF12 Unspecified TNFSF12 +OMIM:602695 skos:exactMatch UMLS:C1420814 Unspecified TNFSF12 +OMIM:602695 skos:exactMatch HGNC:11927 Unspecified TNFSF12 +OMIM:600034 skos:exactMatch HGNC:3340 Unspecified EMX1 +OMIM:600034 skos:exactMatch HGNC_symbol:EMX1 Unspecified EMX1 +OMIM:600034 skos:exactMatch UMLS:C1414393 Unspecified EMX1 +OMIM:133020 skos:exactMatch UMLS:C3276706 Unspecified erythermalgia, primary +OMIM:133020 skos:exactMatch ORPHA:306577 Unspecified erythermalgia, primary +OMIM:133020 skos:exactMatch ORPHA:90026 Unspecified erythermalgia, primary +OMIM:133020 skos:exactMatch UMLS:C0014805 Unspecified erythermalgia, primary +OMIM:600098 skos:exactMatch UMLS:C5231432 Unspecified RRAS2 +OMIM:600098 skos:exactMatch HGNC:17271 Unspecified RRAS2 +OMIM:600098 skos:exactMatch UMLS:C1969537 Unspecified RRAS2 +OMIM:600098 skos:exactMatch HGNC_symbol:RRAS2 Unspecified RRAS2 +OMIM:600098 skos:exactMatch UMLS:C1335647 Unspecified RRAS2 +OMIM:600096 skos:exactMatch UMLS:C2931142 Unspecified puerto rican infant hypotonia syndrome +OMIM:600093 skos:exactMatch UMLS:C1838653 Unspecified spondyloepiphyseal dysplasia tarda with characteristic facies +OMIM:600092 skos:exactMatch ORPHA:1422 Unspecified nivelon-nivelon-mabille syndrome +OMIM:600092 skos:exactMatch UMLS:C1838654 Unspecified nivelon-nivelon-mabille syndrome +OMIM:612079 skos:exactMatch UMLS:C2677535 Unspecified alopecia, neurologic defects, and endocrinopathy syndrome +OMIM:612088 skos:exactMatch UMLS:C1539106 Unspecified CLEC12A +OMIM:612088 skos:exactMatch HGNC_symbol:CLEC12A Unspecified CLEC12A +OMIM:612088 skos:exactMatch HGNC:31713 Unspecified CLEC12A +OMIM:145000 skos:exactMatch UMLS:C1840403 Unspecified hyperparathyroidism 1 +OMIM:145000 skos:exactMatch UMLS:C1840402 Unspecified hyperparathyroidism 1 +OMIM:145000 skos:exactMatch UMLS:C4551961 Unspecified hyperparathyroidism 1 +OMIM:612089 skos:exactMatch UMLS:C2677524 Unspecified hypophosphatemic rickets and hyperparathyroidism +OMIM:147660 skos:exactMatch HGNC_symbol:IFNA1 Unspecified IFNA1 +OMIM:147660 skos:exactMatch UMLS:C1415900 Unspecified IFNA1 +OMIM:147660 skos:exactMatch UMLS:C1415911 Unspecified IFNA1 +OMIM:147660 skos:exactMatch HGNC:5417 Unspecified IFNA1 +OMIM:612086 skos:exactMatch HGNC:23037 Unspecified HMSD +OMIM:612086 skos:exactMatch HGNC_symbol:HMSD Unspecified HMSD +OMIM:612086 skos:exactMatch UMLS:C1825518 Unspecified HMSD +OMIM:612087 skos:exactMatch UMLS:C1539087 Unspecified CLEC2A +OMIM:612087 skos:exactMatch HGNC:24191 Unspecified CLEC2A +OMIM:612087 skos:exactMatch HGNC_symbol:CLEC2A Unspecified CLEC2A +OMIM:612084 skos:exactMatch UMLS:C2677531 Unspecified SLC51A +OMIM:612084 skos:exactMatch HGNC_symbol:SLC51A Unspecified SLC51A +OMIM:612084 skos:exactMatch HGNC:29955 Unspecified SLC51A +OMIM:612085 skos:exactMatch UMLS:C2677530 Unspecified SLC51B +OMIM:612085 skos:exactMatch HGNC_symbol:SLC51B Unspecified SLC51B +OMIM:612085 skos:exactMatch HGNC:29956 Unspecified SLC51B +OMIM:612082 skos:exactMatch UMLS:C1422489 Unspecified CIC +OMIM:612082 skos:exactMatch HGNC_symbol:CIC Unspecified CIC +OMIM:612082 skos:exactMatch HGNC:14214 Unspecified CIC +OMIM:145001 skos:exactMatch UMLS:C1840394 Unspecified hyperparathyroidism 2 with jaw tumors +OMIM:145001 skos:exactMatch UMLS:C1704981 Unspecified hyperparathyroidism 2 with jaw tumors +OMIM:612083 skos:exactMatch UMLS:C2677532 Unspecified muscle strength quantitative trait locus 1 +OMIM:612080 skos:exactMatch HGNC:29594 Unspecified UQCRQ +OMIM:612080 skos:exactMatch HGNC_symbol:UQCRQ Unspecified UQCRQ +OMIM:612080 skos:exactMatch UMLS:C1823602 Unspecified UQCRQ +OMIM:612081 skos:exactMatch HGNC_symbol:IL34 Unspecified IL34 +OMIM:612081 skos:exactMatch UMLS:C1824430 Unspecified IL34 +OMIM:612081 skos:exactMatch HGNC:28529 Unspecified IL34 +OMIM:600089 skos:exactMatch UMLS:C1838655 Unspecified pancreatic beta cell agenesis with neonatal diabetes mellitus +OMIM:147680 skos:exactMatch HGNC_symbol:IL2 Unspecified IL2 +OMIM:147680 skos:exactMatch HGNC:6001 Unspecified IL2 +OMIM:147680 skos:exactMatch UMLS:C0879590 Unspecified IL2 +OMIM:243400 skos:exactMatch UMLS:C2673469 Unspecified acetylation, slow +OMIM:243400 skos:exactMatch UMLS:C2673468 Unspecified acetylation, slow +OMIM:243400 skos:exactMatch UMLS:C2673470 Unspecified acetylation, slow +OMIM:243400 skos:exactMatch UMLS:C0878587 Unspecified acetylation, slow +OMIM:612068 skos:exactMatch UMLS:C2677566 Unspecified PIRT +OMIM:612068 skos:exactMatch HGNC:37239 Unspecified PIRT +OMIM:612068 skos:exactMatch HGNC_symbol:PIRT Unspecified PIRT +OMIM:612069 skos:exactMatch ORPHA:275872 Unspecified amyotrophic lateral sclerosis 10 with or without frontotemporal dementia +OMIM:612069 skos:exactMatch UMLS:C2677565 Unspecified amyotrophic lateral sclerosis 10 with or without frontotemporal dementia +OMIM:612069 skos:exactMatch ORPHA:803 Unspecified amyotrophic lateral sclerosis 10 with or without frontotemporal dementia +OMIM:612077 skos:exactMatch HGNC:31599 Unspecified MIR22 +OMIM:612077 skos:exactMatch UMLS:C1537720 Unspecified MIR22 +OMIM:612077 skos:exactMatch HGNC_symbol:MIR22 Unspecified MIR22 +OMIM:612078 skos:exactMatch HGNC:23216 Unspecified ZNF469 +OMIM:612078 skos:exactMatch HGNC_symbol:ZNF469 Unspecified ZNF469 +OMIM:612078 skos:exactMatch UMLS:C1427995 Unspecified ZNF469 +OMIM:314400 skos:exactMatch UMLS:C0262436 Unspecified cardiac valvular dysplasia, X-linked +OMIM:147671 skos:exactMatch UMLS:C1416459 Unspecified INSRR +OMIM:147671 skos:exactMatch HGNC_symbol:INSRR Unspecified INSRR +OMIM:147671 skos:exactMatch HGNC:6093 Unspecified INSRR +OMIM:612075 skos:exactMatch ORPHA:255235 Unspecified mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) +OMIM:612075 skos:exactMatch ORPHA:298 Unspecified mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) +OMIM:612075 skos:exactMatch UMLS:C3150172 Unspecified mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) +OMIM:612075 skos:exactMatch UMLS:C2749861 Unspecified mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) +OMIM:612075 skos:exactMatch ORPHA:254803 Unspecified mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) +OMIM:147670 skos:exactMatch UMLS:C0011860 Unspecified INSR +OMIM:147670 skos:exactMatch UMLS:C0021655 Unspecified INSR +OMIM:147670 skos:exactMatch UMLS:C1334133 Unspecified INSR +OMIM:147670 skos:exactMatch UMLS:C1864952 Unspecified INSR +OMIM:147670 skos:exactMatch HGNC:6091 Unspecified INSR +OMIM:147670 skos:exactMatch UMLS:C0271695 Unspecified INSR +OMIM:147670 skos:exactMatch UMLS:C0265344 Unspecified INSR +OMIM:147670 skos:exactMatch HGNC_symbol:INSR Unspecified INSR +OMIM:147670 skos:exactMatch UMLS:C0854110 Unspecified INSR +OMIM:147670 skos:exactMatch UMLS:C0342278 Unspecified INSR +OMIM:147670 skos:exactMatch UMLS:C4015968 Unspecified INSR +OMIM:612076 skos:exactMatch UMLS:C2677551 Unspecified hypouricemia, renal, 2 +OMIM:612076 skos:exactMatch UMLS:C2677550 Unspecified hypouricemia, renal, 2 +OMIM:612076 skos:exactMatch UMLS:C2677549 Unspecified hypouricemia, renal, 2 +OMIM:612076 skos:exactMatch ORPHA:94088 Unspecified hypouricemia, renal, 2 +OMIM:612073 skos:exactMatch UMLS:C2749864 Unspecified mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) +OMIM:612074 skos:exactMatch UMLS:C1538793 Unspecified RBM28 +OMIM:612074 skos:exactMatch HGNC:21863 Unspecified RBM28 +OMIM:612074 skos:exactMatch HGNC_symbol:RBM28 Unspecified RBM28 +OMIM:612071 skos:exactMatch UMLS:C1826031 Unspecified MIRN451 +OMIM:612071 skos:exactMatch HGNC:32053 Unspecified MIRN451 +OMIM:612071 skos:exactMatch HGNC_symbol:MIR451A Unspecified MIRN451 +OMIM:612072 skos:exactMatch HGNC:24030 Unspecified MIF4GD +OMIM:612072 skos:exactMatch UMLS:C1825994 Unspecified MIF4GD +OMIM:612072 skos:exactMatch HGNC_symbol:MIF4GD Unspecified MIF4GD +OMIM:612070 skos:exactMatch HGNC_symbol:MIR144 Unspecified MIRN144 +OMIM:612070 skos:exactMatch UMLS:C1537798 Unspecified MIRN144 +OMIM:612070 skos:exactMatch HGNC:31531 Unspecified MIRN144 +OMIM:147679 skos:exactMatch UMLS:C2748507 Unspecified IL1RN +OMIM:147679 skos:exactMatch UMLS:C1416402 Unspecified IL1RN +OMIM:147679 skos:exactMatch HGNC:6000 Unspecified IL1RN +OMIM:147679 skos:exactMatch UMLS:C4016230 Unspecified IL1RN +OMIM:147679 skos:exactMatch HGNC_symbol:IL1RN Unspecified IL1RN +OMIM:147679 skos:exactMatch UMLS:C2675112 Unspecified IL1RN +OMIM:147678 skos:exactMatch HGNC_symbol:CASP1 Unspecified CASP1 +OMIM:147678 skos:exactMatch UMLS:C1366479 Unspecified CASP1 +OMIM:147678 skos:exactMatch HGNC:1499 Unspecified CASP1 +OMIM:600076 skos:exactMatch HGNC_symbol:TNS1 Unspecified TNS1 +OMIM:600076 skos:exactMatch HGNC:11973 Unspecified TNS1 +OMIM:600076 skos:exactMatch UMLS:C1823460 Unspecified TNS1 +OMIM:600075 skos:exactMatch HGNC_symbol:TBP Unspecified TBP +OMIM:600075 skos:exactMatch HGNC:11588 Unspecified TBP +OMIM:600075 skos:exactMatch UMLS:C1337106 Unspecified TBP +OMIM:600074 skos:exactMatch HGNC_symbol:CD24 Unspecified CD24 +OMIM:600074 skos:exactMatch HGNC:1645 Unspecified CD24 +OMIM:600074 skos:exactMatch UMLS:C1413212 Unspecified CD24 +OMIM:600073 skos:exactMatch HGNC_symbol:LRP2 Unspecified LRP2 +OMIM:600073 skos:exactMatch HGNC:6694 Unspecified LRP2 +OMIM:600073 skos:exactMatch UMLS:C1416914 Unspecified LRP2 +OMIM:218450 skos:exactMatch UMLS:C1857495 Unspecified craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis +OMIM:600072 skos:exactMatch UMLS:C0206042 Unspecified fatal familial insomnia +OMIM:600070 skos:exactMatch HGNC_symbol:UGT2B10 Unspecified UGT2B10 +OMIM:600070 skos:exactMatch HGNC:12544 Unspecified UGT2B10 +OMIM:600070 skos:exactMatch UMLS:C1421336 Unspecified UGT2B10 +OMIM:612059 skos:exactMatch HGNC:29531 Unspecified LARP1 +OMIM:612059 skos:exactMatch HGNC_symbol:LARP1 Unspecified LARP1 +OMIM:612059 skos:exactMatch UMLS:C1825786 Unspecified LARP1 +OMIM:147690 skos:exactMatch UMLS:C1415892 Unspecified IFIT1 +OMIM:147690 skos:exactMatch HGNC:5407 Unspecified IFIT1 +OMIM:147690 skos:exactMatch HGNC_symbol:IFIT1 Unspecified IFIT1 +OMIM:612057 skos:exactMatch HGNC_symbol:SAPCD2 Unspecified SAPCD2 +OMIM:612057 skos:exactMatch UMLS:C1538362 Unspecified SAPCD2 +OMIM:612057 skos:exactMatch HGNC:28055 Unspecified SAPCD2 +OMIM:612058 skos:exactMatch HGNC_symbol:SAMM50 Unspecified SAMM50 +OMIM:612058 skos:exactMatch HGNC:24276 Unspecified SAMM50 +OMIM:612058 skos:exactMatch UMLS:C1826973 Unspecified SAMM50 +OMIM:612066 skos:exactMatch HGNC_symbol:PARP15 Unspecified PARP15 +OMIM:612066 skos:exactMatch HGNC:26876 Unspecified PARP15 +OMIM:612066 skos:exactMatch UMLS:C1538590 Unspecified PARP15 +OMIM:147683 skos:exactMatch UMLS:C1334103 Unspecified IL13 +OMIM:147683 skos:exactMatch UMLS:C4017540 Unspecified IL13 +OMIM:147683 skos:exactMatch UMLS:C1869116 Unspecified IL13 +OMIM:147683 skos:exactMatch HGNC_symbol:IL13 Unspecified IL13 +OMIM:147683 skos:exactMatch HGNC:5973 Unspecified IL13 +OMIM:612067 skos:exactMatch UMLS:C2677567 Unspecified dystonia 16 +OMIM:612064 skos:exactMatch UMLS:C2239491 Unspecified GIGYF1 +OMIM:612064 skos:exactMatch HGNC_symbol:GIGYF1 Unspecified GIGYF1 +OMIM:612064 skos:exactMatch HGNC:9126 Unspecified GIGYF1 +OMIM:612065 skos:exactMatch HGNC:24118 Unspecified PARP9 +OMIM:612065 skos:exactMatch UMLS:C1538586 Unspecified PARP9 +OMIM:612065 skos:exactMatch HGNC_symbol:PARP9 Unspecified PARP9 +OMIM:147681 skos:exactMatch UMLS:C1334100 Unspecified IL11 +OMIM:147681 skos:exactMatch HGNC_symbol:IL11 Unspecified IL11 +OMIM:147681 skos:exactMatch HGNC:5966 Unspecified IL11 +OMIM:612062 skos:exactMatch HGNC_symbol:ZNRF3 Unspecified ZNRF3 +OMIM:612062 skos:exactMatch UMLS:C1538251 Unspecified ZNRF3 +OMIM:612062 skos:exactMatch HGNC:18126 Unspecified ZNRF3 +OMIM:612063 skos:exactMatch HGNC_symbol:ZNRF4 Unspecified ZNRF4 +OMIM:612063 skos:exactMatch UMLS:C1538252 Unspecified ZNRF4 +OMIM:612063 skos:exactMatch HGNC:17726 Unspecified ZNRF4 +OMIM:612060 skos:exactMatch HGNC_symbol:ZNRF1 Unspecified ZNRF1 +OMIM:612060 skos:exactMatch UMLS:C1538249 Unspecified ZNRF1 +OMIM:612060 skos:exactMatch HGNC:18452 Unspecified ZNRF1 +OMIM:147685 skos:exactMatch UMLS:C1416418 Unspecified FOXK2 +OMIM:147685 skos:exactMatch HGNC:6036 Unspecified FOXK2 +OMIM:147685 skos:exactMatch HGNC_symbol:FOXK2 Unspecified FOXK2 +OMIM:612061 skos:exactMatch HGNC_symbol:ZNRF2 Unspecified ZNRF2 +OMIM:612061 skos:exactMatch UMLS:C1538250 Unspecified ZNRF2 +OMIM:612061 skos:exactMatch HGNC:22316 Unspecified ZNRF2 +OMIM:600069 skos:exactMatch HGNC_symbol:UGT2B15 Unspecified UGT2B15 +OMIM:600069 skos:exactMatch HGNC:12546 Unspecified UGT2B15 +OMIM:600069 skos:exactMatch UMLS:C1421338 Unspecified UGT2B15 +OMIM:600068 skos:exactMatch HGNC_symbol:UGT2B7 Unspecified UGT2B7 +OMIM:600068 skos:exactMatch HGNC:12554 Unspecified UGT2B7 +OMIM:600068 skos:exactMatch UMLS:C1421346 Unspecified UGT2B7 +OMIM:600067 skos:exactMatch HGNC_symbol:UGT2B4 Unspecified UGT2B4 +OMIM:600067 skos:exactMatch HGNC:12553 Unspecified UGT2B4 +OMIM:600067 skos:exactMatch UMLS:C1421345 Unspecified UGT2B4 +OMIM:600087 skos:exactMatch HGNC_symbol:TUFT1 Unspecified TUFT1 +OMIM:600087 skos:exactMatch HGNC:12422 Unspecified TUFT1 +OMIM:600087 skos:exactMatch UMLS:C1421240 Unspecified TUFT1 +OMIM:600086 skos:exactMatch UMLS:C1412242 Unspecified ADH7 +OMIM:600086 skos:exactMatch HGNC_symbol:ADH7 Unspecified ADH7 +OMIM:600086 skos:exactMatch HGNC:256 Unspecified ADH7 +OMIM:600085 skos:exactMatch UMLS:C1335892 Unspecified SYK +OMIM:600085 skos:exactMatch HGNC_symbol:SYK Unspecified SYK +OMIM:600085 skos:exactMatch HGNC:11491 Unspecified SYK +OMIM:184600 skos:exactMatch HGNC:2481 Unspecified CSTA +OMIM:184600 skos:exactMatch UMLS:C1413778 Unspecified CSTA +OMIM:184600 skos:exactMatch HGNC_symbol:CSTA Unspecified CSTA +OMIM:600084 skos:exactMatch UMLS:C1838656 Unspecified macrocytosis, familial +OMIM:600082 skos:exactMatch UMLS:C1704272 Unspecified prostatic hyperplasia, benign +OMIM:302400 skos:exactMatch UMLS:C1844886 Unspecified central incisors, absence of +OMIM:600081 skos:exactMatch UMLS:C1838657 Unspecified vitamin d hydroxylation-deficient rickets, iia 1b +OMIM:600081 skos:exactMatch ORPHA:289157 Unspecified vitamin d hydroxylation-deficient rickets, iia 1b +OMIM:600080 skos:exactMatch UMLS:C1838670 Unspecified myelocytic leukemia-like syndrome, familial, chronic +OMIM:612048 skos:exactMatch HGNC_symbol:TMEM43 Unspecified TMEM43 +OMIM:612048 skos:exactMatch HGNC:28472 Unspecified TMEM43 +OMIM:612048 skos:exactMatch UMLS:C1540016 Unspecified TMEM43 +OMIM:612049 skos:exactMatch UMLS:C1426245 Unspecified RIOX2 +OMIM:612049 skos:exactMatch HGNC_symbol:RIOX2 Unspecified RIOX2 +OMIM:612049 skos:exactMatch HGNC:19441 Unspecified RIOX2 +OMIM:612046 skos:exactMatch HGNC_symbol:E2F7 Unspecified E2F7 +OMIM:612046 skos:exactMatch HGNC:23820 Unspecified E2F7 +OMIM:612046 skos:exactMatch UMLS:C1428277 Unspecified E2F7 +OMIM:612047 skos:exactMatch HGNC_symbol:E2F8 Unspecified E2F8 +OMIM:612047 skos:exactMatch HGNC:24727 Unspecified E2F8 +OMIM:612047 skos:exactMatch UMLS:C1825020 Unspecified E2F8 +OMIM:612055 skos:exactMatch UMLS:C1425541 Unspecified RPS27L +OMIM:612055 skos:exactMatch HGNC_symbol:RPS27L Unspecified RPS27L +OMIM:612055 skos:exactMatch HGNC:18476 Unspecified RPS27L +OMIM:612056 skos:exactMatch UMLS:C1427699 Unspecified GET4 +OMIM:612056 skos:exactMatch HGNC_symbol:GET4 Unspecified GET4 +OMIM:612056 skos:exactMatch HGNC:21690 Unspecified GET4 +OMIM:612053 skos:exactMatch UMLS:C1412825 Unspecified ZFP36L2 +OMIM:612053 skos:exactMatch HGNC_symbol:ZFP36L2 Unspecified ZFP36L2 +OMIM:612053 skos:exactMatch HGNC:1108 Unspecified ZFP36L2 +OMIM:612054 skos:exactMatch HGNC_symbol:CNOT9 Unspecified CNOT9 +OMIM:612054 skos:exactMatch UMLS:C1419755 Unspecified CNOT9 +OMIM:612054 skos:exactMatch HGNC:10445 Unspecified CNOT9 +OMIM:612051 skos:exactMatch UMLS:C2677573 Unspecified BEAN1 +OMIM:612051 skos:exactMatch HGNC:24160 Unspecified BEAN1 +OMIM:612051 skos:exactMatch HGNC_symbol:BEAN1 Unspecified BEAN1 +OMIM:612052 skos:exactMatch UMLS:C2677571 Unspecified smoking as a quantitative trait locus 3 +OMIM:612052 skos:exactMatch UMLS:C3150168 Unspecified smoking as a quantitative trait locus 3 +OMIM:612050 skos:exactMatch HGNC_symbol:NDFIP1 Unspecified NDFIP1 +OMIM:612050 skos:exactMatch HGNC:17592 Unspecified NDFIP1 +OMIM:612050 skos:exactMatch UMLS:C1425008 Unspecified NDFIP1 +OMIM:600079 skos:exactMatch HGNC:9645 Unspecified PTPN12 +OMIM:600079 skos:exactMatch HGNC_symbol:PTPN12 Unspecified PTPN12 +OMIM:600079 skos:exactMatch UMLS:C1368803 Unspecified PTPN12 +OMIM:182115 skos:exactMatch HGNC_symbol:CYTH1 Unspecified CYTH1 +OMIM:182115 skos:exactMatch UMLS:C1418978 Unspecified CYTH1 +OMIM:182115 skos:exactMatch HGNC:9501 Unspecified CYTH1 +OMIM:133190 skos:exactMatch UMLS:C1851481 Unspecified spinocerebellar ataxia 34 +OMIM:182120 skos:exactMatch HGNC_symbol:SPARC Unspecified SPARC +OMIM:182120 skos:exactMatch HGNC:11219 Unspecified SPARC +OMIM:182120 skos:exactMatch UMLS:C1420342 Unspecified SPARC +OMIM:160794 skos:exactMatch HGNC:7549 Unspecified MYBPC1 +OMIM:160794 skos:exactMatch HGNC_symbol:MYBPC1 Unspecified MYBPC1 +OMIM:160794 skos:exactMatch UMLS:C1417521 Unspecified MYBPC1 +OMIM:160795 skos:exactMatch HGNC:7552 Unspecified MYBPH +OMIM:160795 skos:exactMatch HGNC_symbol:MYBPH Unspecified MYBPH +OMIM:160795 skos:exactMatch UMLS:C1417524 Unspecified MYBPH +OMIM:160790 skos:exactMatch HGNC:7584 Unspecified MYL3 +OMIM:160790 skos:exactMatch HGNC_symbol:MYL3 Unspecified MYL3 +OMIM:160790 skos:exactMatch UMLS:C1417548 Unspecified MYL3 +OMIM:157145 skos:exactMatch UMLS:C1367466 Unspecified MSMB +OMIM:157145 skos:exactMatch HGNC_symbol:MSMB Unspecified MSMB +OMIM:157145 skos:exactMatch HGNC:7372 Unspecified MSMB +OMIM:157147 skos:exactMatch HGNC:7467 Unspecified MTTP +OMIM:157147 skos:exactMatch HGNC_symbol:MTTP Unspecified MTTP +OMIM:157147 skos:exactMatch UMLS:C1826328 Unspecified MTTP +OMIM:182125 skos:exactMatch HGNC_symbol:SPR Unspecified SPR +OMIM:182125 skos:exactMatch HGNC:11257 Unspecified SPR +OMIM:182125 skos:exactMatch UMLS:C1420371 Unspecified SPR +OMIM:160793 skos:exactMatch HGNC:7550 Unspecified MYBPC2 +OMIM:160793 skos:exactMatch HGNC_symbol:MYBPC2 Unspecified MYBPC2 +OMIM:160793 skos:exactMatch UMLS:C1417522 Unspecified MYBPC2 +OMIM:243605 skos:exactMatch UMLS:C1855705 Unspecified stromme syndrome +OMIM:243600 skos:exactMatch UMLS:C0266175 Unspecified jejunal atresia +OMIM:204000 skos:exactMatch UMLS:C2931258 Unspecified leber congenital amaurosis 1 +OMIM:182128 skos:exactMatch HGNC_symbol:SDS Unspecified SDS +OMIM:182128 skos:exactMatch UMLS:C1419917 Unspecified SDS +OMIM:182128 skos:exactMatch HGNC:10691 Unspecified SDS +OMIM:157151 skos:exactMatch UMLS:C1834880 Unspecified microspherophakia-metaphyseal dysplasia +OMIM:157150 skos:exactMatch UMLS:C1834881 Unspecified microspherophakia with hernia +OMIM:218650 skos:exactMatch UMLS:C1857472 Unspecified craniosynostosis-mental retardation-clefting syndrome +OMIM:184755 skos:exactMatch HGNC_symbol:SCP2 Unspecified SCP2 +OMIM:184755 skos:exactMatch UMLS:C1419874 Unspecified SCP2 +OMIM:184755 skos:exactMatch HGNC:10606 Unspecified SCP2 +OMIM:184753 skos:exactMatch HGNC:11284 Unspecified SRD5A1 +OMIM:184753 skos:exactMatch HGNC_symbol:SRD5A1 Unspecified SRD5A1 +OMIM:184753 skos:exactMatch UMLS:C1420395 Unspecified SRD5A1 +OMIM:218649 skos:exactMatch UMLS:C1857473 Unspecified craniosynostosis-mental retardation syndrome of 51n and gettig +OMIM:184756 skos:exactMatch UMLS:C1274795 Unspecified SREBF1 +OMIM:184756 skos:exactMatch HGNC:11289 Unspecified SREBF1 +OMIM:184756 skos:exactMatch UMLS:C5436607 Unspecified SREBF1 +OMIM:184756 skos:exactMatch UMLS:C1420398 Unspecified SREBF1 +OMIM:184756 skos:exactMatch HGNC_symbol:SREBF1 Unspecified SREBF1 +OMIM:184757 skos:exactMatch HGNC_symbol:NR5A1 Unspecified NR5A1 +OMIM:184757 skos:exactMatch HGNC:7983 Unspecified NR5A1 +OMIM:184757 skos:exactMatch UMLS:C1417838 Unspecified NR5A1 +OMIM:182100 skos:exactMatch UMLS:C1414863 Unspecified FUT2 +OMIM:182100 skos:exactMatch HGNC_symbol:FUT2 Unspecified FUT2 +OMIM:182100 skos:exactMatch HGNC:4013 Unspecified FUT2 +OMIM:169150 skos:exactMatch UMLS:C4551999 Unspecified macular dystrophy, patterned, 1 +OMIM:157170 skos:exactMatch UMLS:C1834877 Unspecified holoprosencephaly 2 +OMIM:206600 skos:exactMatch UMLS:C4225670 Unspecified anhidrosis, familial generalized, with abnormal or absent sweat glands +OMIM:182150 skos:exactMatch UMLS:C1866962 Unspecified simosa craniofacial syndrome +OMIM:169170 skos:exactMatch UMLS:C1868546 Unspecified patterson pseudoleprechaunism syndrome +OMIM:182160 skos:exactMatch HGNC_symbol:SPN Unspecified SPN +OMIM:182160 skos:exactMatch HGNC:11249 Unspecified SPN +OMIM:182160 skos:exactMatch UMLS:C1420364 Unspecified SPN +OMIM:182131 skos:exactMatch HGNC:5287 Unspecified HTR1B +OMIM:182131 skos:exactMatch UMLS:C1415804 Unspecified HTR1B +OMIM:182131 skos:exactMatch HGNC_symbol:HTR1B Unspecified HTR1B +OMIM:182133 skos:exactMatch HGNC:5289 Unspecified HTR1D +OMIM:182133 skos:exactMatch UMLS:C1415805 Unspecified HTR1D +OMIM:182133 skos:exactMatch HGNC_symbol:HTR1D Unspecified HTR1D +OMIM:182132 skos:exactMatch HGNC:5291 Unspecified HTR1E +OMIM:182132 skos:exactMatch UMLS:C1415807 Unspecified HTR1E +OMIM:182132 skos:exactMatch HGNC_symbol:HTR1E Unspecified HTR1E +OMIM:182135 skos:exactMatch HGNC:5293 Unspecified HTR2A +OMIM:182135 skos:exactMatch UMLS:C1415809 Unspecified HTR2A +OMIM:182135 skos:exactMatch HGNC_symbol:HTR2A Unspecified HTR2A +OMIM:182134 skos:exactMatch HGNC:5292 Unspecified HTR1F +OMIM:182134 skos:exactMatch UMLS:C1415808 Unspecified HTR1F +OMIM:182134 skos:exactMatch HGNC_symbol:HTR1F Unspecified HTR1F +OMIM:182137 skos:exactMatch HGNC:5302 Unspecified HTR7 +OMIM:182137 skos:exactMatch HGNC_symbol:HTR7 Unspecified HTR7 +OMIM:182137 skos:exactMatch UMLS:C1415816 Unspecified HTR7 +OMIM:123790 skos:exactMatch ORPHA:1555 Unspecified beare-stevenson cutis gyrata syndrome +OMIM:123790 skos:exactMatch UMLS:C1852406 Unspecified beare-stevenson cutis gyrata syndrome +OMIM:182139 skos:exactMatch HGNC:5297 Unspecified HTR3A +OMIM:182139 skos:exactMatch UMLS:C1333933 Unspecified HTR3A +OMIM:182139 skos:exactMatch HGNC_symbol:HTR3A Unspecified HTR3A +OMIM:182138 skos:exactMatch HGNC:11050 Unspecified SLC6A4 +OMIM:182138 skos:exactMatch UMLS:C1420214 Unspecified SLC6A4 +OMIM:182138 skos:exactMatch HGNC_symbol:SLC6A4 Unspecified SLC6A4 +OMIM:218600 skos:exactMatch UMLS:C0265308 Unspecified baller-gerold syndrome +OMIM:182141 skos:exactMatch UMLS:C1419961 Unspecified SEMG2 +OMIM:182141 skos:exactMatch HGNC:10743 Unspecified SEMG2 +OMIM:182141 skos:exactMatch HGNC_symbol:SEMG2 Unspecified SEMG2 +OMIM:182144 skos:exactMatch UMLS:C1420038 Unspecified SHMT1 +OMIM:182144 skos:exactMatch HGNC_symbol:SHMT1 Unspecified SHMT1 +OMIM:182144 skos:exactMatch HGNC:10850 Unspecified SHMT1 +OMIM:182145 skos:exactMatch UMLS:C1866968 Unspecified None +OMIM:169190 skos:exactMatch HGNC:8751 Unspecified CDK18 +OMIM:169190 skos:exactMatch HGNC_symbol:CDK18 Unspecified CDK18 +OMIM:169190 skos:exactMatch UMLS:C1418394 Unspecified CDK18 +OMIM:182140 skos:exactMatch UMLS:C1419960 Unspecified SEMG1 +OMIM:182140 skos:exactMatch HGNC:10742 Unspecified SEMG1 +OMIM:182140 skos:exactMatch HGNC_symbol:SEMG1 Unspecified SEMG1 +OMIM:108145 skos:exactMatch UMLS:C1862472 Unspecified arthrogryposis, distal, iia 5 +OMIM:182190 skos:exactMatch UMLS:C1866960 Unspecified sinus node disease and myopia +OMIM:108120 skos:exactMatch UMLS:C0220662 Unspecified arthrogryposis, distal, iia 1a +OMIM:108120 skos:exactMatch ORPHA:1146 Unspecified arthrogryposis, distal, iia 1a +OMIM:108120 skos:exactMatch UMLS:C5193002 Unspecified arthrogryposis, distal, iia 1a +OMIM:182175 skos:exactMatch UMLS:C1335862 Unspecified SRP19 +OMIM:182175 skos:exactMatch HGNC:11300 Unspecified SRP19 +OMIM:182175 skos:exactMatch HGNC_symbol:SRP19 Unspecified SRP19 +OMIM:182170 skos:exactMatch UMLS:C4225428 Unspecified anemia, sideroblastic, 4 +OMIM:182180 skos:exactMatch HGNC:11307 Unspecified SRPRA +OMIM:182180 skos:exactMatch HGNC_symbol:SRPRA Unspecified SRPRA +OMIM:182180 skos:exactMatch UMLS:C1420414 Unspecified SRPRA +OMIM:123740 skos:exactMatch HGNC:2418 Unspecified CRYM +OMIM:123740 skos:exactMatch UMLS:C1413741 Unspecified CRYM +OMIM:123740 skos:exactMatch HGNC_symbol:CRYM Unspecified CRYM +OMIM:111750 skos:exactMatch UMLS:C1292292 Unspecified blood group--scianna system +OMIM:602830 skos:exactMatch HGNC:4790 Unspecified HIST1H4E +OMIM:602830 skos:exactMatch HGNC_symbol:H4C5 Unspecified HIST1H4E +OMIM:602830 skos:exactMatch UMLS:C1415450 Unspecified HIST1H4E +OMIM:614819 skos:exactMatch UMLS:C3553785 Unspecified weill-marchesani syndrome 3 +OMIM:602831 skos:exactMatch HGNC_symbol:H4C13 Unspecified HIST1H4L +OMIM:602831 skos:exactMatch HGNC:4791 Unspecified HIST1H4L +OMIM:602831 skos:exactMatch UMLS:C1415451 Unspecified HIST1H4L +OMIM:614818 skos:exactMatch UMLS:C1825319 Unspecified FRY +OMIM:614818 skos:exactMatch HGNC:20367 Unspecified FRY +OMIM:614818 skos:exactMatch HGNC_symbol:FRY Unspecified FRY +OMIM:602832 skos:exactMatch HGNC:4792 Unspecified HIST1H4G +OMIM:602832 skos:exactMatch UMLS:C1415452 Unspecified HIST1H4G +OMIM:602832 skos:exactMatch HGNC_symbol:H4C7 Unspecified HIST1H4G +OMIM:614817 skos:exactMatch ORPHA:401996 Unspecified interstitial nephritis, karyomegalic +OMIM:614817 skos:exactMatch UMLS:C3553774 Unspecified interstitial nephritis, karyomegalic +OMIM:602833 skos:exactMatch HGNC:4793 Unspecified HIST1H4I +OMIM:602833 skos:exactMatch UMLS:C1415453 Unspecified HIST1H4I +OMIM:602833 skos:exactMatch HGNC_symbol:H4C9 Unspecified HIST1H4I +OMIM:602833 skos:exactMatch UMLS:C1864437 Unspecified HIST1H4I +OMIM:614816 skos:exactMatch UMLS:C3553762 Unspecified loeys-dietz syndrome 4 +OMIM:108100 skos:exactMatch UMLS:C0748473 Unspecified arthritis, sacroiliac +OMIM:602835 skos:exactMatch HGNC_symbol:GAS2 Unspecified GAS2 +OMIM:602835 skos:exactMatch UMLS:C1333659 Unspecified GAS2 +OMIM:602835 skos:exactMatch HGNC:4167 Unspecified GAS2 +OMIM:614815 skos:exactMatch UMLS:C3553758 Unspecified joubert syndrome 18 +OMIM:614814 skos:exactMatch UMLS:C3553748 Unspecified adams-oliver syndrome 3 +OMIM:602836 skos:exactMatch UMLS:C1418214 Unspecified P2RX5 +OMIM:602836 skos:exactMatch HGNC_symbol:P2RX5 Unspecified P2RX5 +OMIM:602836 skos:exactMatch HGNC:8536 Unspecified P2RX5 +OMIM:602837 skos:exactMatch HGNC:5229 Unspecified DNAJA1 +OMIM:602837 skos:exactMatch HGNC_symbol:DNAJA1 Unspecified DNAJA1 +OMIM:602837 skos:exactMatch UMLS:C1415754 Unspecified DNAJA1 +OMIM:614813 skos:exactMatch UMLS:C3542022 Unspecified short stature, onychodysplasia, facial dysmorphism, and hypotrichosis +OMIM:614812 skos:exactMatch UMLS:C2829966 Unspecified NUPR1 +OMIM:614812 skos:exactMatch HGNC_symbol:NUPR1 Unspecified NUPR1 +OMIM:614812 skos:exactMatch HGNC:29990 Unspecified NUPR1 +OMIM:602838 skos:exactMatch UMLS:C1418572 Unspecified PIK3C2B +OMIM:602838 skos:exactMatch HGNC_symbol:PIK3C2B Unspecified PIK3C2B +OMIM:602838 skos:exactMatch HGNC:8972 Unspecified PIK3C2B +OMIM:602839 skos:exactMatch HGNC:8977 Unspecified PIK3CD +OMIM:602839 skos:exactMatch UMLS:C1418575 Unspecified PIK3CD +OMIM:602839 skos:exactMatch HGNC_symbol:PIK3CD Unspecified PIK3CD +OMIM:614811 skos:exactMatch HGNC_symbol:L3HYPDH Unspecified L3HYPDH +OMIM:614811 skos:exactMatch HGNC:20488 Unspecified L3HYPDH +OMIM:614811 skos:exactMatch UMLS:C1539037 Unspecified L3HYPDH +OMIM:614810 skos:exactMatch UMLS:C3553728 Unspecified multiple sclerosis, susceptibility to, 5 +OMIM:123730 skos:exactMatch HGNC:2417 Unspecified CRYGS +OMIM:123730 skos:exactMatch HGNC_symbol:CRYGS Unspecified CRYGS +OMIM:123730 skos:exactMatch UMLS:C1413740 Unspecified CRYGS +OMIM:111740 skos:exactMatch UMLS:C4551874 Unspecified blood group, ss +OMIM:614809 skos:exactMatch UMLS:C3553720 Unspecified c3 glomerulopathy 3 +OMIM:602820 skos:exactMatch HGNC:4778 Unspecified HIST3H3 +OMIM:602820 skos:exactMatch HGNC_symbol:H3-4 Unspecified HIST3H3 +OMIM:602820 skos:exactMatch UMLS:C1442482 Unspecified HIST3H3 +OMIM:614808 skos:exactMatch UMLS:C3553719 Unspecified amyotrophic lateral sclerosis 18 +OMIM:602821 skos:exactMatch UMLS:C1416638 Unspecified KIF5A +OMIM:602821 skos:exactMatch HGNC_symbol:KIF5A Unspecified KIF5A +OMIM:602821 skos:exactMatch HGNC:6323 Unspecified KIF5A +OMIM:614807 skos:exactMatch UMLS:C3553709 Unspecified myopathy, centronuclear, 4 +OMIM:614806 skos:exactMatch HGNC:13911 Unspecified DMRTC2 +OMIM:614806 skos:exactMatch HGNC_symbol:DMRTC2 Unspecified DMRTC2 +OMIM:614806 skos:exactMatch UMLS:C1422265 Unspecified DMRTC2 +OMIM:602822 skos:exactMatch HGNC:4781 Unspecified HIST1H4A +OMIM:602822 skos:exactMatch UMLS:C1415441 Unspecified HIST1H4A +OMIM:602822 skos:exactMatch HGNC_symbol:H4C1 Unspecified HIST1H4A +OMIM:614805 skos:exactMatch HGNC_symbol:DMRTB1 Unspecified DMRTB1 +OMIM:614805 skos:exactMatch HGNC:13913 Unspecified DMRTB1 +OMIM:614805 skos:exactMatch UMLS:C1422266 Unspecified DMRTB1 +OMIM:602823 skos:exactMatch HGNC:4782 Unspecified HIST1H4D +OMIM:602823 skos:exactMatch UMLS:C1415442 Unspecified HIST1H4D +OMIM:602823 skos:exactMatch HGNC_symbol:H4C4 Unspecified HIST1H4D +OMIM:602824 skos:exactMatch HGNC:4783 Unspecified HIST1H4F +OMIM:602824 skos:exactMatch HGNC_symbol:H4C6 Unspecified HIST1H4F +OMIM:602824 skos:exactMatch UMLS:C1415443 Unspecified HIST1H4F +OMIM:614804 skos:exactMatch HGNC_symbol:DMRTA2 Unspecified DMRTA2 +OMIM:614804 skos:exactMatch HGNC:13908 Unspecified DMRTA2 +OMIM:614804 skos:exactMatch UMLS:C1422262 Unspecified DMRTA2 +OMIM:614803 skos:exactMatch HGNC:13826 Unspecified DMRTA1 +OMIM:614803 skos:exactMatch HGNC_symbol:DMRTA1 Unspecified DMRTA1 +OMIM:614803 skos:exactMatch UMLS:C1422220 Unspecified DMRTA1 +OMIM:602825 skos:exactMatch HGNC_symbol:H4C12 Unspecified HIST1H4K +OMIM:602825 skos:exactMatch HGNC:4784 Unspecified HIST1H4K +OMIM:602825 skos:exactMatch UMLS:C1415444 Unspecified HIST1H4K +OMIM:614802 skos:exactMatch HGNC:25544 Unspecified MSL2 +OMIM:614802 skos:exactMatch UMLS:C1826309 Unspecified MSL2 +OMIM:614802 skos:exactMatch HGNC_symbol:MSL2 Unspecified MSL2 +OMIM:602826 skos:exactMatch HGNC_symbol:H4C11 Unspecified HIST1H4J +OMIM:602826 skos:exactMatch HGNC:4785 Unspecified HIST1H4J +OMIM:602826 skos:exactMatch UMLS:C1415445 Unspecified HIST1H4J +OMIM:602827 skos:exactMatch HGNC:4787 Unspecified HIST1H4C +OMIM:602827 skos:exactMatch HGNC_symbol:H4C3 Unspecified HIST1H4C +OMIM:602827 skos:exactMatch UMLS:C1415447 Unspecified HIST1H4C +OMIM:614801 skos:exactMatch UMLS:C2681844 Unspecified MSL1 +OMIM:614801 skos:exactMatch HGNC_symbol:MSL1 Unspecified MSL1 +OMIM:614801 skos:exactMatch HGNC:27905 Unspecified MSL1 +OMIM:614800 skos:exactMatch UMLS:C3541319 Unspecified short stature, optic nerve atrophy, and pelger-huet anomaly +OMIM:602828 skos:exactMatch HGNC:4788 Unspecified HIST1H4H +OMIM:602828 skos:exactMatch HGNC_symbol:H4C8 Unspecified HIST1H4H +OMIM:602828 skos:exactMatch UMLS:C1415448 Unspecified HIST1H4H +OMIM:602829 skos:exactMatch HGNC:4789 Unspecified HIST1H4B +OMIM:602829 skos:exactMatch UMLS:C1415449 Unspecified HIST1H4B +OMIM:602829 skos:exactMatch HGNC_symbol:H4C2 Unspecified HIST1H4B +OMIM:602810 skos:exactMatch HGNC:4766 Unspecified HIST1H3A +OMIM:602810 skos:exactMatch HGNC_symbol:H3C1 Unspecified HIST1H3A +OMIM:602810 skos:exactMatch UMLS:C1415429 Unspecified HIST1H3A +OMIM:602811 skos:exactMatch HGNC:4767 Unspecified HIST1H3D +OMIM:602811 skos:exactMatch HGNC_symbol:H3C4 Unspecified HIST1H3D +OMIM:602811 skos:exactMatch UMLS:C1415430 Unspecified HIST1H3D +OMIM:602812 skos:exactMatch HGNC:4768 Unspecified HIST1H3C +OMIM:602812 skos:exactMatch HGNC_symbol:H3C3 Unspecified HIST1H3C +OMIM:602812 skos:exactMatch UMLS:C1415431 Unspecified HIST1H3C +OMIM:602813 skos:exactMatch HGNC:4769 Unspecified HIST1H3E +OMIM:602813 skos:exactMatch HGNC_symbol:H3C6 Unspecified HIST1H3E +OMIM:602813 skos:exactMatch UMLS:C1415432 Unspecified HIST1H3E +OMIM:602814 skos:exactMatch HGNC_symbol:H3C11 Unspecified HIST1H3I +OMIM:602814 skos:exactMatch HGNC:4771 Unspecified HIST1H3I +OMIM:602814 skos:exactMatch UMLS:C1415434 Unspecified HIST1H3I +OMIM:602815 skos:exactMatch HGNC:4772 Unspecified HIST1H3G +OMIM:602815 skos:exactMatch HGNC_symbol:H3C8 Unspecified HIST1H3G +OMIM:602815 skos:exactMatch UMLS:C1415435 Unspecified HIST1H3G +OMIM:602816 skos:exactMatch HGNC:4773 Unspecified HIST1H3F +OMIM:602816 skos:exactMatch HGNC_symbol:H3C7 Unspecified HIST1H3F +OMIM:602816 skos:exactMatch UMLS:C1415436 Unspecified HIST1H3F +OMIM:602817 skos:exactMatch HGNC_symbol:H3C12 Unspecified HIST1H3J +OMIM:602817 skos:exactMatch HGNC:4774 Unspecified HIST1H3J +OMIM:602817 skos:exactMatch UMLS:C1415437 Unspecified HIST1H3J +OMIM:602818 skos:exactMatch HGNC_symbol:H3C10 Unspecified HIST1H3H +OMIM:602818 skos:exactMatch HGNC:4775 Unspecified HIST1H3H +OMIM:602818 skos:exactMatch UMLS:C1415438 Unspecified HIST1H3H +OMIM:602819 skos:exactMatch HGNC:4776 Unspecified HIST1H3B +OMIM:602819 skos:exactMatch HGNC_symbol:H3C2 Unspecified HIST1H3B +OMIM:602819 skos:exactMatch UMLS:C1415439 Unspecified HIST1H3B +OMIM:111730 skos:exactMatch HGNC_symbol:B4GALNT2 Unspecified B4GALNT2 +OMIM:111730 skos:exactMatch UMLS:C1428349 Unspecified B4GALNT2 +OMIM:111730 skos:exactMatch HGNC:24136 Unspecified B4GALNT2 +OMIM:194190 skos:exactMatch UMLS:C1956097 Unspecified wolf-hirschhorn syndrome +OMIM:194190 skos:exactMatch UMLS:C0796117 Unspecified wolf-hirschhorn syndrome +OMIM:602800 skos:exactMatch HGNC_symbol:H2BC13 Unspecified HIST1H2BL +OMIM:602800 skos:exactMatch HGNC:4748 Unspecified HIST1H2BL +OMIM:602800 skos:exactMatch UMLS:C1415412 Unspecified HIST1H2BL +OMIM:602801 skos:exactMatch HGNC_symbol:H2BC15 Unspecified HIST1H2BN +OMIM:602801 skos:exactMatch HGNC:4749 Unspecified HIST1H2BN +OMIM:602801 skos:exactMatch UMLS:C1415413 Unspecified HIST1H2BN +OMIM:602802 skos:exactMatch HGNC_symbol:H2BC14 Unspecified HIST1H2BM +OMIM:602802 skos:exactMatch HGNC:4750 Unspecified HIST1H2BM +OMIM:602802 skos:exactMatch UMLS:C1415414 Unspecified HIST1H2BM +OMIM:602803 skos:exactMatch HGNC:4751 Unspecified HIST1H2BB +OMIM:602803 skos:exactMatch HGNC_symbol:H2BC3 Unspecified HIST1H2BB +OMIM:602803 skos:exactMatch UMLS:C1415415 Unspecified HIST1H2BB +OMIM:602804 skos:exactMatch HGNC:4752 Unspecified HIST1H2BF +OMIM:602804 skos:exactMatch HGNC_symbol:H2BC7 Unspecified HIST1H2BF +OMIM:602804 skos:exactMatch UMLS:C1415416 Unspecified HIST1H2BF +OMIM:602805 skos:exactMatch HGNC:4753 Unspecified HIST1H2BE +OMIM:602805 skos:exactMatch HGNC_symbol:H2BC6 Unspecified HIST1H2BE +OMIM:602805 skos:exactMatch UMLS:C1415417 Unspecified HIST1H2BE +OMIM:602806 skos:exactMatch HGNC:4755 Unspecified HIST1H2BH +OMIM:602806 skos:exactMatch HGNC_symbol:H2BC9 Unspecified HIST1H2BH +OMIM:602806 skos:exactMatch UMLS:C1415419 Unspecified HIST1H2BH +OMIM:602807 skos:exactMatch HGNC_symbol:H2BC10 Unspecified HIST1H2BI +OMIM:602807 skos:exactMatch HGNC:4756 Unspecified HIST1H2BI +OMIM:602807 skos:exactMatch UMLS:C1415420 Unspecified HIST1H2BI +OMIM:602808 skos:exactMatch HGNC_symbol:H2BC17 Unspecified HIST1H2BO +OMIM:602808 skos:exactMatch HGNC:4758 Unspecified HIST1H2BO +OMIM:602808 skos:exactMatch UMLS:C1415422 Unspecified HIST1H2BO +OMIM:602809 skos:exactMatch HGNC_symbol:KIF5B Unspecified KIF5B +OMIM:602809 skos:exactMatch HGNC:6324 Unspecified KIF5B +OMIM:602809 skos:exactMatch UMLS:C1416639 Unspecified KIF5B +OMIM:123700 skos:exactMatch UMLS:C3276539 Unspecified cutis laxa, autosomal dominant 1 +OMIM:602751 skos:exactMatch HGNC_symbol:BACH1 Unspecified BACH1 +OMIM:602751 skos:exactMatch UMLS:C1412729 Unspecified BACH1 +OMIM:602751 skos:exactMatch HGNC:935 Unspecified BACH1 +OMIM:602752 skos:exactMatch HGNC:9849 Unspecified RGPD8 +OMIM:602752 skos:exactMatch HGNC_symbol:RGPD8 Unspecified RGPD8 +OMIM:602752 skos:exactMatch UMLS:C1826819 Unspecified RGPD8 +OMIM:602753 skos:exactMatch HGNC_symbol:PHOX2A Unspecified PHOX2A +OMIM:602753 skos:exactMatch UMLS:C1412535 Unspecified PHOX2A +OMIM:602753 skos:exactMatch HGNC:691 Unspecified PHOX2A +OMIM:602754 skos:exactMatch HGNC_symbol:KCNN4 Unspecified KCNN4 +OMIM:602754 skos:exactMatch HGNC:6293 Unspecified KCNN4 +OMIM:602754 skos:exactMatch UMLS:C1416611 Unspecified KCNN4 +OMIM:602755 skos:exactMatch HGNC:1580 Unspecified CCNB2 +OMIM:602755 skos:exactMatch HGNC_symbol:CCNB2 Unspecified CCNB2 +OMIM:602755 skos:exactMatch UMLS:C1332696 Unspecified CCNB2 +OMIM:602756 skos:exactMatch UMLS:C1414301 Unspecified EFNA2 +OMIM:602756 skos:exactMatch HGNC:3222 Unspecified EFNA2 +OMIM:602756 skos:exactMatch HGNC_symbol:EFNA2 Unspecified EFNA2 +OMIM:602757 skos:exactMatch UMLS:C1414432 Unspecified EPHB6 +OMIM:602757 skos:exactMatch HGNC_symbol:EPHB6 Unspecified EPHB6 +OMIM:602757 skos:exactMatch HGNC:3396 Unspecified EPHB6 +OMIM:614739 skos:exactMatch UMLS:C3553597 Unspecified 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome +OMIM:602758 skos:exactMatch HGNC_symbol:PI4KB Unspecified PIK4CB +OMIM:602758 skos:exactMatch UMLS:C1335216 Unspecified PIK4CB +OMIM:602758 skos:exactMatch HGNC:8984 Unspecified PIK4CB +OMIM:614738 skos:exactMatch HGNC:21606 Unspecified MPC1 +OMIM:614738 skos:exactMatch UMLS:C1427642 Unspecified MPC1 +OMIM:614738 skos:exactMatch HGNC_symbol:MPC1 Unspecified MPC1 +OMIM:602759 skos:exactMatch UMLS:C1864472 Unspecified prostate cancer, hereditary, 8 +OMIM:614737 skos:exactMatch HGNC_symbol:MPC2 Unspecified MPC2 +OMIM:614737 skos:exactMatch HGNC:24515 Unspecified MPC2 +OMIM:614737 skos:exactMatch UMLS:C1826634 Unspecified MPC2 +OMIM:614736 skos:exactMatch UMLS:C3553587 Unspecified glucocorticoid deficiency 4 with or without mineralocorticoid deficiency +OMIM:614735 skos:exactMatch HGNC:33692 Unspecified MIR365A +OMIM:614735 skos:exactMatch HGNC_symbol:MIR365A Unspecified MIR365A +OMIM:614735 skos:exactMatch UMLS:C3470967 Unspecified MIR365A +OMIM:614734 skos:exactMatch HGNC:32087 Unspecified MIR193B +OMIM:614734 skos:exactMatch UMLS:C1826008 Unspecified MIR193B +OMIM:614734 skos:exactMatch HGNC_symbol:MIR193B Unspecified MIR193B +OMIM:614733 skos:exactMatch HGNC:31563 Unspecified MIR193A +OMIM:614733 skos:exactMatch UMLS:C1826007 Unspecified MIR193A +OMIM:614733 skos:exactMatch HGNC_symbol:MIR193A Unspecified MIR193A +OMIM:614732 skos:exactMatch UMLS:C1846009 Unspecified intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies +OMIM:614731 skos:exactMatch UMLS:C3539120 Unspecified prostate cancer, hereditary, 2 +OMIM:614730 skos:exactMatch UMLS:C1427994 Unspecified PIGO +OMIM:614730 skos:exactMatch HGNC_symbol:PIGO Unspecified PIGO +OMIM:614730 skos:exactMatch HGNC:23215 Unspecified PIGO +OMIM:314310 skos:exactMatch UMLS:C1854588 Unspecified TFE3 +OMIM:314310 skos:exactMatch UMLS:C1853489 Unspecified TFE3 +OMIM:314310 skos:exactMatch HGNC_symbol:TFE3 Unspecified TFE3 +OMIM:314310 skos:exactMatch UMLS:C1336608 Unspecified TFE3 +OMIM:314310 skos:exactMatch UMLS:C1861554 Unspecified TFE3 +OMIM:314310 skos:exactMatch HGNC:11752 Unspecified TFE3 +OMIM:314310 skos:exactMatch UMLS:C1867338 Unspecified TFE3 +OMIM:614740 skos:exactMatch UMLS:C3553606 Unspecified basal cell carcinoma, susceptibility to, 7 +OMIM:123812 skos:exactMatch UMLS:C1413706 Unspecified CREM +OMIM:123812 skos:exactMatch HGNC_symbol:CREM Unspecified CREM +OMIM:123812 skos:exactMatch HGNC:2352 Unspecified CREM +OMIM:123812 skos:exactMatch UMLS:C1852403 Unspecified CREM +OMIM:123811 skos:exactMatch UMLS:C1332119 Unspecified ATF2 +OMIM:123811 skos:exactMatch HGNC_symbol:ATF2 Unspecified ATF2 +OMIM:123811 skos:exactMatch HGNC:784 Unspecified ATF2 +OMIM:602760 skos:exactMatch HGNC:6449 Unspecified KRT32 +OMIM:602760 skos:exactMatch HGNC_symbol:KRT32 Unspecified KRT32 +OMIM:602760 skos:exactMatch UMLS:C1416749 Unspecified KRT32 +OMIM:123810 skos:exactMatch UMLS:C1413702 Unspecified CREB1 +OMIM:123810 skos:exactMatch HGNC_symbol:CREB1 Unspecified CREB1 +OMIM:123810 skos:exactMatch HGNC:2345 Unspecified CREB1 +OMIM:602761 skos:exactMatch HGNC:6450 Unspecified KRT33A +OMIM:602761 skos:exactMatch HGNC_symbol:KRT33A Unspecified KRT33A +OMIM:602761 skos:exactMatch UMLS:C1825748 Unspecified KRT33A +OMIM:602740 skos:exactMatch HGNC:9378 Unspecified PRKAB1 +OMIM:602740 skos:exactMatch UMLS:C1418899 Unspecified PRKAB1 +OMIM:602740 skos:exactMatch HGNC_symbol:PRKAB1 Unspecified PRKAB1 +OMIM:602741 skos:exactMatch HGNC:9379 Unspecified PRKAB2 +OMIM:602741 skos:exactMatch UMLS:C1418900 Unspecified PRKAB2 +OMIM:602741 skos:exactMatch HGNC_symbol:PRKAB2 Unspecified PRKAB2 +OMIM:602742 skos:exactMatch HGNC_symbol:PRKAG1 Unspecified PRKAG1 +OMIM:602742 skos:exactMatch HGNC:9385 Unspecified PRKAG1 +OMIM:602742 skos:exactMatch UMLS:C1418904 Unspecified PRKAG1 +OMIM:602743 skos:exactMatch HGNC_symbol:PRKAG2 Unspecified PRKAG2 +OMIM:602743 skos:exactMatch HGNC:9386 Unspecified PRKAG2 +OMIM:602743 skos:exactMatch UMLS:C1418905 Unspecified PRKAG2 +OMIM:602744 skos:exactMatch HGNC_symbol:GNPAT Unspecified GNPAT +OMIM:602744 skos:exactMatch HGNC:4416 Unspecified GNPAT +OMIM:602744 skos:exactMatch UMLS:C1415166 Unspecified GNPAT +OMIM:602745 skos:exactMatch HGNC:8995 Unspecified PIP5K1B +OMIM:602745 skos:exactMatch HGNC_symbol:PIP5K1B Unspecified PIP5K1B +OMIM:602745 skos:exactMatch UMLS:C1418589 Unspecified PIP5K1B +OMIM:123805 skos:exactMatch HGNC_symbol:PDE3A Unspecified PDE3A +OMIM:123805 skos:exactMatch UMLS:C1862170 Unspecified PDE3A +OMIM:123805 skos:exactMatch HGNC:8778 Unspecified PDE3A +OMIM:123805 skos:exactMatch UMLS:C1418418 Unspecified PDE3A +OMIM:614729 skos:exactMatch HGNC:21749 Unspecified COPS6 +OMIM:614729 skos:exactMatch UMLS:C1427739 Unspecified COPS6 +OMIM:614729 skos:exactMatch HGNC_symbol:COPS6 Unspecified COPS6 +OMIM:602746 skos:exactMatch UMLS:C1420808 Unspecified TNFRSF14 +OMIM:602746 skos:exactMatch HGNC_symbol:TNFRSF14 Unspecified TNFRSF14 +OMIM:602746 skos:exactMatch HGNC:11912 Unspecified TNFRSF14 +OMIM:614728 skos:exactMatch UMLS:C3553582 Unspecified seckel syndrome 6 +OMIM:602747 skos:exactMatch HGNC_symbol:DUSP4 Unspecified DUSP4 +OMIM:602747 skos:exactMatch UMLS:C1414185 Unspecified DUSP4 +OMIM:602747 skos:exactMatch HGNC:3070 Unspecified DUSP4 +OMIM:614727 skos:exactMatch UMLS:C3553571 Unspecified congenital disorder of glycosylation, iia iik +OMIM:602748 skos:exactMatch HGNC_symbol:DUSP6 Unspecified DUSP6 +OMIM:602748 skos:exactMatch UMLS:C1414187 Unspecified DUSP6 +OMIM:602748 skos:exactMatch HGNC:3072 Unspecified DUSP6 +OMIM:614726 skos:exactMatch UMLS:C1823430 Unspecified TMEM165 +OMIM:614726 skos:exactMatch HGNC_symbol:TMEM165 Unspecified TMEM165 +OMIM:614726 skos:exactMatch HGNC:30760 Unspecified TMEM165 +OMIM:602749 skos:exactMatch HGNC_symbol:DUSP7 Unspecified DUSP7 +OMIM:602749 skos:exactMatch UMLS:C1414188 Unspecified DUSP7 +OMIM:602749 skos:exactMatch HGNC:3073 Unspecified DUSP7 +OMIM:614725 skos:exactMatch HGNC:21061 Unspecified SERAC1 +OMIM:614725 skos:exactMatch UMLS:C1427283 Unspecified SERAC1 +OMIM:614725 skos:exactMatch HGNC_symbol:SERAC1 Unspecified SERAC1 +OMIM:614724 skos:exactMatch UMLS:C1824711 Unspecified CEP63 +OMIM:614724 skos:exactMatch HGNC_symbol:CEP63 Unspecified CEP63 +OMIM:614724 skos:exactMatch HGNC:25815 Unspecified CEP63 +OMIM:614723 skos:exactMatch UMLS:C0268120 Unspecified adenine phosphoribosyltransferase deficiency +OMIM:614722 skos:exactMatch HGNC_symbol:MIR3120 Unspecified MIR3120 +OMIM:614722 skos:exactMatch HGNC:38295 Unspecified MIR3120 +OMIM:614722 skos:exactMatch UMLS:C2829719 Unspecified MIR3120 +OMIM:614721 skos:exactMatch HGNC:29367 Unspecified TSPYL5 +OMIM:614721 skos:exactMatch HGNC_symbol:TSPYL5 Unspecified TSPYL5 +OMIM:614721 skos:exactMatch UMLS:C1428843 Unspecified TSPYL5 +OMIM:614720 skos:exactMatch HGNC_symbol:CDK19 Unspecified CDK19 +OMIM:614720 skos:exactMatch UMLS:C5394501 Unspecified CDK19 +OMIM:614720 skos:exactMatch HGNC:19338 Unspecified CDK19 +OMIM:614720 skos:exactMatch UMLS:C1540298 Unspecified CDK19 +OMIM:314320 skos:exactMatch ORPHA:3369 Unspecified trigonocephaly with short stature and developmental delay +OMIM:314320 skos:exactMatch UMLS:C1839125 Unspecified trigonocephaly with short stature and developmental delay +OMIM:123803 skos:exactMatch HGNC:783 Unspecified ATF1 +OMIM:123803 skos:exactMatch UMLS:C1852405 Unspecified ATF1 +OMIM:123803 skos:exactMatch UMLS:C1852404 Unspecified ATF1 +OMIM:123803 skos:exactMatch UMLS:C1412615 Unspecified ATF1 +OMIM:123803 skos:exactMatch HGNC_symbol:ATF1 Unspecified ATF1 +OMIM:302350 skos:exactMatch UMLS:C0796085 Unspecified nance-horan syndrome +OMIM:302350 skos:exactMatch ORPHA:627 Unspecified nance-horan syndrome +OMIM:602750 skos:exactMatch UMLS:C1413950 Unspecified DDT +OMIM:602750 skos:exactMatch HGNC_symbol:DDT Unspecified DDT +OMIM:602750 skos:exactMatch HGNC:2732 Unspecified DDT +OMIM:602730 skos:exactMatch UMLS:C1332013 Unspecified ACVR2B +OMIM:602730 skos:exactMatch HGNC_symbol:ACVR2B Unspecified ACVR2B +OMIM:602730 skos:exactMatch HGNC:174 Unspecified ACVR2B +OMIM:602731 skos:exactMatch UMLS:C1414885 Unspecified FYB1 +OMIM:602731 skos:exactMatch HGNC_symbol:FYB1 Unspecified FYB1 +OMIM:602731 skos:exactMatch UMLS:C2678311 Unspecified FYB1 +OMIM:602731 skos:exactMatch HGNC:4036 Unspecified FYB1 +OMIM:602732 skos:exactMatch HGNC:673 Unspecified ARHGAP1 +OMIM:602732 skos:exactMatch HGNC_symbol:ARHGAP1 Unspecified ARHGAP1 +OMIM:602732 skos:exactMatch UMLS:C1412520 Unspecified ARHGAP1 +OMIM:614719 skos:exactMatch UMLS:C1427019 Unspecified KCMF1 +OMIM:614719 skos:exactMatch HGNC_symbol:KCMF1 Unspecified KCMF1 +OMIM:614719 skos:exactMatch HGNC:20589 Unspecified KCMF1 +OMIM:602733 skos:exactMatch HGNC:412 Unspecified ALDH9A1 +OMIM:602733 skos:exactMatch HGNC_symbol:ALDH9A1 Unspecified ALDH9A1 +OMIM:602733 skos:exactMatch UMLS:C1412343 Unspecified ALDH9A1 +OMIM:602734 skos:exactMatch HGNC:9090 Unspecified PLS1 +OMIM:602734 skos:exactMatch UMLS:C5394080 Unspecified PLS1 +OMIM:602734 skos:exactMatch UMLS:C1418657 Unspecified PLS1 +OMIM:602734 skos:exactMatch HGNC_symbol:PLS1 Unspecified PLS1 +OMIM:614718 skos:exactMatch UMLS:C1539051 Unspecified KNSTRN +OMIM:614718 skos:exactMatch HGNC:30767 Unspecified KNSTRN +OMIM:614718 skos:exactMatch HGNC_symbol:KNSTRN Unspecified KNSTRN +OMIM:602735 skos:exactMatch HGNC_symbol:RCN1 Unspecified RCN1 +OMIM:602735 skos:exactMatch HGNC:9934 Unspecified RCN1 +OMIM:602735 skos:exactMatch UMLS:C1419324 Unspecified RCN1 +OMIM:614717 skos:exactMatch UMLS:C1824317 Unspecified ANAPC15 +OMIM:614717 skos:exactMatch HGNC_symbol:ANAPC15 Unspecified ANAPC15 +OMIM:614717 skos:exactMatch HGNC:24531 Unspecified ANAPC15 +OMIM:614716 skos:exactMatch HGNC:20272 Unspecified CARMIL3 +OMIM:614716 skos:exactMatch HGNC_symbol:CARMIL3 Unspecified CARMIL3 +OMIM:614716 skos:exactMatch UMLS:C1426826 Unspecified CARMIL3 +OMIM:602736 skos:exactMatch HGNC:843 Unspecified ATP5MC3 +OMIM:602736 skos:exactMatch UMLS:C1412664 Unspecified ATP5MC3 +OMIM:602736 skos:exactMatch HGNC_symbol:ATP5MC3 Unspecified ATP5MC3 +OMIM:602737 skos:exactMatch HGNC:10620 Unspecified CCL21 +OMIM:602737 skos:exactMatch HGNC_symbol:CCL21 Unspecified CCL21 +OMIM:602737 skos:exactMatch UMLS:C1332684 Unspecified CCL21 +OMIM:614715 skos:exactMatch UMLS:C1823450 Unspecified TMIGD2 +OMIM:614715 skos:exactMatch HGNC:28324 Unspecified TMIGD2 +OMIM:614715 skos:exactMatch HGNC_symbol:TMIGD2 Unspecified TMIGD2 +OMIM:614714 skos:exactMatch UMLS:C3553549 Unspecified porokeratosis 7, multiple types +OMIM:602738 skos:exactMatch UMLS:C1416705 Unspecified KPNB1 +OMIM:602738 skos:exactMatch HGNC:6400 Unspecified KPNB1 +OMIM:602738 skos:exactMatch HGNC_symbol:KPNB1 Unspecified KPNB1 +OMIM:602739 skos:exactMatch UMLS:C1418897 Unspecified PRKAA1 +OMIM:602739 skos:exactMatch HGNC_symbol:PRKAA1 Unspecified PRKAA1 +OMIM:602739 skos:exactMatch HGNC:9376 Unspecified PRKAA1 +OMIM:614713 skos:exactMatch HGNC:33984 Unspecified RASSF10 +OMIM:614713 skos:exactMatch UMLS:C2239870 Unspecified RASSF10 +OMIM:614713 skos:exactMatch HGNC_symbol:RASSF10 Unspecified RASSF10 +OMIM:614712 skos:exactMatch HGNC:33593 Unspecified FAM72D +OMIM:614712 skos:exactMatch UMLS:C2239400 Unspecified FAM72D +OMIM:614712 skos:exactMatch HGNC_symbol:FAM72D Unspecified FAM72D +OMIM:614711 skos:exactMatch HGNC_symbol:FAM72B Unspecified FAM72B +OMIM:614711 skos:exactMatch HGNC:24805 Unspecified FAM72B +OMIM:614711 skos:exactMatch UMLS:C1825138 Unspecified FAM72B +OMIM:135700 skos:exactMatch UMLS:C2751105 Unspecified fibrosis of extraocular muscles, congenital, 1 +OMIM:135700 skos:exactMatch UMLS:C1851102 Unspecified fibrosis of extraocular muscles, congenital, 1 +OMIM:614710 skos:exactMatch HGNC_symbol:FAM72A Unspecified FAM72A +OMIM:614710 skos:exactMatch HGNC:24044 Unspecified FAM72A +OMIM:614710 skos:exactMatch UMLS:C1825137 Unspecified FAM72A +OMIM:602720 skos:exactMatch HGNC_symbol:PON3 Unspecified PON3 +OMIM:602720 skos:exactMatch HGNC:9206 Unspecified PON3 +OMIM:602720 skos:exactMatch UMLS:C1418756 Unspecified PON3 +OMIM:614709 skos:exactMatch HGNC_symbol:LYRM1 Unspecified LYRM1 +OMIM:614709 skos:exactMatch UMLS:C1825922 Unspecified LYRM1 +OMIM:614709 skos:exactMatch HGNC:25074 Unspecified LYRM1 +OMIM:602721 skos:exactMatch UMLS:C1414082 Unspecified DMC1 +OMIM:602721 skos:exactMatch HGNC:2927 Unspecified DMC1 +OMIM:602721 skos:exactMatch HGNC_symbol:DMC1 Unspecified DMC1 +OMIM:614708 skos:exactMatch UMLS:C1539734 Unspecified SCUBE3 +OMIM:614708 skos:exactMatch HGNC:13655 Unspecified SCUBE3 +OMIM:614708 skos:exactMatch HGNC_symbol:SCUBE3 Unspecified SCUBE3 +OMIM:602722 skos:exactMatch UMLS:C5399980 Unspecified renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +OMIM:602722 skos:exactMatch ORPHA:18 Unspecified renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +OMIM:602722 skos:exactMatch ORPHA:402041 Unspecified renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +OMIM:614707 skos:exactMatch ORPHA:97229 Unspecified brown-vialetto-van laere syndrome 2 +OMIM:614707 skos:exactMatch ORPHA:572550 Unspecified brown-vialetto-van laere syndrome 2 +OMIM:614707 skos:exactMatch UMLS:C3553538 Unspecified brown-vialetto-van laere syndrome 2 +OMIM:602723 skos:exactMatch UMLS:C1864497 Unspecified psoriasis 2 +OMIM:602724 skos:exactMatch HGNC:9164 Unspecified SEPT5 +OMIM:602724 skos:exactMatch UMLS:C1864496 Unspecified SEPT5 +OMIM:602724 skos:exactMatch HGNC_symbol:SEPTIN5 Unspecified SEPT5 +OMIM:602724 skos:exactMatch UMLS:C1539748 Unspecified SEPT5 +OMIM:614706 skos:exactMatch UMLS:C3539123 Unspecified ceroid lipofuscinosis, neuronal, 11 +OMIM:602725 skos:exactMatch UMLS:C1415928 Unspecified IFRD2 +OMIM:602725 skos:exactMatch HGNC_symbol:IFRD2 Unspecified IFRD2 +OMIM:602725 skos:exactMatch HGNC:5457 Unspecified IFRD2 +OMIM:614705 skos:exactMatch UMLS:C3541537 Unspecified SRGAP2D +OMIM:614705 skos:exactMatch HGNC_symbol:SRGAP2D Unspecified SRGAP2D +OMIM:614705 skos:exactMatch HGNC:43932 Unspecified SRGAP2D +OMIM:602726 skos:exactMatch HGNC:2024 Unspecified CLCN6 +OMIM:602726 skos:exactMatch HGNC_symbol:CLCN6 Unspecified CLCN6 +OMIM:602726 skos:exactMatch UMLS:C1413455 Unspecified CLCN6 +OMIM:614704 skos:exactMatch HGNC_symbol:SRGAP2C Unspecified SRGAP2C +OMIM:614704 skos:exactMatch UMLS:C3469873 Unspecified SRGAP2C +OMIM:614704 skos:exactMatch HGNC:30584 Unspecified SRGAP2C +OMIM:602727 skos:exactMatch HGNC:2025 Unspecified CLCN7 +OMIM:602727 skos:exactMatch UMLS:C1413456 Unspecified CLCN7 +OMIM:602727 skos:exactMatch HGNC_symbol:CLCN7 Unspecified CLCN7 +OMIM:614703 skos:exactMatch HGNC:35237 Unspecified SRGAP2B +OMIM:614703 skos:exactMatch HGNC_symbol:SRGAP2B Unspecified SRGAP2B +OMIM:614703 skos:exactMatch UMLS:C3469872 Unspecified SRGAP2B +OMIM:602728 skos:exactMatch HGNC_symbol:SCARA3 Unspecified SCARA3 +OMIM:602728 skos:exactMatch UMLS:C1425942 Unspecified SCARA3 +OMIM:602728 skos:exactMatch HGNC:19000 Unspecified SCARA3 +OMIM:614702 skos:exactMatch ORPHA:314637 Unspecified combined oxidative phosphorylation deficiency 10 +OMIM:614702 skos:exactMatch UMLS:C3553529 Unspecified combined oxidative phosphorylation deficiency 10 +OMIM:111800 skos:exactMatch UMLS:C1862193 Unspecified blood group--stoltzfus system +OMIM:614701 skos:exactMatch UMLS:C3553517 Unspecified cornelia lange lange syndrome 4 with or without midline brain defects +OMIM:614701 skos:exactMatch ORPHA:199 Unspecified cornelia lange lange syndrome 4 with or without midline brain defects +OMIM:602729 skos:exactMatch HGNC:4089 Unspecified GABRP +OMIM:602729 skos:exactMatch HGNC_symbol:GABRP Unspecified GABRP +OMIM:602729 skos:exactMatch UMLS:C1414922 Unspecified GABRP +OMIM:614700 skos:exactMatch UMLS:C3553512 Unspecified immunodeficiency, common variable, 8, with autoimmunity +OMIM:314300 skos:exactMatch UMLS:C1839129 Unspecified torticollis, keloids, cryptorchidism, and renal dysplasia +OMIM:600132 skos:exactMatch UMLS:C1838603 Unspecified retinitis pigmentosa 14 +OMIM:602795 skos:exactMatch HGNC_symbol:H2AC4 Unspecified HIST1H2AB +OMIM:602795 skos:exactMatch HGNC:4734 Unspecified HIST1H2AB +OMIM:602795 skos:exactMatch UMLS:C1415401 Unspecified HIST1H2AB +OMIM:602796 skos:exactMatch HGNC:4735 Unspecified HIST1H2AM +OMIM:602796 skos:exactMatch UMLS:C1415402 Unspecified HIST1H2AM +OMIM:602796 skos:exactMatch HGNC_symbol:H2AC17 Unspecified HIST1H2AM +OMIM:600131 skos:exactMatch UMLS:C1838604 Unspecified epilepsy, childhood absence, susceptibility to, 1 +OMIM:600130 skos:exactMatch HGNC:604 Unspecified APOBEC1 +OMIM:600130 skos:exactMatch HGNC_symbol:APOBEC1 Unspecified APOBEC1 +OMIM:600130 skos:exactMatch UMLS:C1412472 Unspecified APOBEC1 +OMIM:602797 skos:exactMatch HGNC:4738 Unspecified HIST2H2AC +OMIM:602797 skos:exactMatch UMLS:C1415405 Unspecified HIST2H2AC +OMIM:602797 skos:exactMatch HGNC_symbol:H2AC20 Unspecified HIST2H2AC +OMIM:602798 skos:exactMatch HGNC:4746 Unspecified HIST1H2BG +OMIM:602798 skos:exactMatch HGNC_symbol:H2BC8 Unspecified HIST1H2BG +OMIM:602798 skos:exactMatch UMLS:C1415410 Unspecified HIST1H2BG +OMIM:602799 skos:exactMatch HGNC:4747 Unspecified HIST1H2BD +OMIM:602799 skos:exactMatch HGNC_symbol:H2BC5 Unspecified HIST1H2BD +OMIM:602799 skos:exactMatch UMLS:C1415411 Unspecified HIST1H2BD +OMIM:612118 skos:exactMatch UMLS:C1537420 Unspecified IQSEC3 +OMIM:612118 skos:exactMatch HGNC:29193 Unspecified IQSEC3 +OMIM:612118 skos:exactMatch HGNC_symbol:IQSEC3 Unspecified IQSEC3 +OMIM:612119 skos:exactMatch UMLS:C0268187 Unspecified trehalase deficiency +OMIM:614779 skos:exactMatch UMLS:C3553676 Unspecified heterotaxy, visceral, 6, autosomal +OMIM:612116 skos:exactMatch HGNC:12621 Unspecified USP22 +OMIM:612116 skos:exactMatch UMLS:C1421400 Unspecified USP22 +OMIM:612116 skos:exactMatch HGNC_symbol:USP22 Unspecified USP22 +OMIM:612117 skos:exactMatch HGNC:31530 Unspecified MIR143 +OMIM:612117 skos:exactMatch HGNC_symbol:MIR143 Unspecified MIR143 +OMIM:612117 skos:exactMatch UMLS:C1537797 Unspecified MIR143 +OMIM:614778 skos:exactMatch HGNC:24261 Unspecified CIAO2B +OMIM:614778 skos:exactMatch UMLS:C1825216 Unspecified CIAO2B +OMIM:614778 skos:exactMatch HGNC_symbol:CIAO2B Unspecified CIAO2B +OMIM:612114 skos:exactMatch UMLS:C2677497 Unspecified bone mineral density quantitative trait locus 11 +OMIM:614777 skos:exactMatch HGNC:13824 Unspecified MMS19 +OMIM:614777 skos:exactMatch HGNC_symbol:MMS19 Unspecified MMS19 +OMIM:614777 skos:exactMatch UMLS:C1422218 Unspecified MMS19 +OMIM:614776 skos:exactMatch UMLS:C2828701 Unspecified SIK3 +OMIM:614776 skos:exactMatch HGNC:29165 Unspecified SIK3 +OMIM:614776 skos:exactMatch UMLS:C4748455 Unspecified SIK3 +OMIM:614776 skos:exactMatch HGNC_symbol:SIK3 Unspecified SIK3 +OMIM:612115 skos:exactMatch UMLS:C1412529 Unspecified ARHGEF3 +OMIM:612115 skos:exactMatch HGNC:683 Unspecified ARHGEF3 +OMIM:612115 skos:exactMatch HGNC_symbol:ARHGEF3 Unspecified ARHGEF3 +OMIM:314360 skos:exactMatch UMLS:C1839123 Unspecified ulnar hypoplasia with lobster-claw deformity of feet +OMIM:612112 skos:exactMatch HGNC_symbol:TNFAIP8L2 Unspecified TNFAIP8L2 +OMIM:612112 skos:exactMatch UMLS:C1823458 Unspecified TNFAIP8L2 +OMIM:612112 skos:exactMatch HGNC:26277 Unspecified TNFAIP8L2 +OMIM:614775 skos:exactMatch HGNC:24990 Unspecified COA3 +OMIM:614775 skos:exactMatch UMLS:C5436710 Unspecified COA3 +OMIM:614775 skos:exactMatch UMLS:C1824580 Unspecified COA3 +OMIM:614775 skos:exactMatch HGNC_symbol:COA3 Unspecified COA3 +OMIM:614774 skos:exactMatch HGNC:22198 Unspecified PTCD1 +OMIM:614774 skos:exactMatch UMLS:C1427759 Unspecified PTCD1 +OMIM:614774 skos:exactMatch HGNC_symbol:PTCD1 Unspecified PTCD1 +OMIM:612113 skos:exactMatch UMLS:C2677498 Unspecified bone mineral density quantitative trait locus 10 +OMIM:614784 skos:exactMatch HGNC_symbol:POC1B Unspecified POC1B +OMIM:614784 skos:exactMatch HGNC:30836 Unspecified POC1B +OMIM:614784 skos:exactMatch UMLS:C1538096 Unspecified POC1B +OMIM:612121 skos:exactMatch HGNC:21246 Unspecified PNPLA1 +OMIM:612121 skos:exactMatch UMLS:C1427450 Unspecified PNPLA1 +OMIM:612121 skos:exactMatch HGNC_symbol:PNPLA1 Unspecified PNPLA1 +OMIM:614783 skos:exactMatch HGNC:24488 Unspecified POC1A +OMIM:614783 skos:exactMatch HGNC_symbol:POC1A Unspecified POC1A +OMIM:614783 skos:exactMatch UMLS:C1538095 Unspecified POC1A +OMIM:612122 skos:exactMatch HGNC_symbol:PNPLA7 Unspecified PNPLA7 +OMIM:612122 skos:exactMatch HGNC:24768 Unspecified PNPLA7 +OMIM:612122 skos:exactMatch UMLS:C1826638 Unspecified PNPLA7 +OMIM:614782 skos:exactMatch UMLS:C3539195 Unspecified tremor, hereditary essential, 4 +OMIM:612120 skos:exactMatch HGNC_symbol:CIDEC Unspecified CIDEC +OMIM:612120 skos:exactMatch UMLS:C1538466 Unspecified CIDEC +OMIM:612120 skos:exactMatch HGNC:24229 Unspecified CIDEC +OMIM:614781 skos:exactMatch HGNC:22214 Unspecified TECPR1 +OMIM:614781 skos:exactMatch HGNC_symbol:TECPR1 Unspecified TECPR1 +OMIM:614781 skos:exactMatch UMLS:C2680468 Unspecified TECPR1 +OMIM:614780 skos:exactMatch UMLS:C1423101 Unspecified SNX10 +OMIM:614780 skos:exactMatch HGNC_symbol:SNX10 Unspecified SNX10 +OMIM:614780 skos:exactMatch HGNC:14974 Unspecified SNX10 +OMIM:600129 skos:exactMatch HGNC_symbol:PDE4D Unspecified PDE4D +OMIM:600129 skos:exactMatch HGNC:8783 Unspecified PDE4D +OMIM:600129 skos:exactMatch UMLS:C1418423 Unspecified PDE4D +OMIM:600129 skos:exactMatch UMLS:C4016648 Unspecified PDE4D +OMIM:600129 skos:exactMatch UMLS:C4016646 Unspecified PDE4D +OMIM:600129 skos:exactMatch UMLS:C4016647 Unspecified PDE4D +OMIM:600128 skos:exactMatch HGNC:8782 Unspecified PDE4C +OMIM:600128 skos:exactMatch UMLS:C1418422 Unspecified PDE4C +OMIM:600128 skos:exactMatch HGNC_symbol:PDE4C Unspecified PDE4C +OMIM:600127 skos:exactMatch HGNC:8781 Unspecified PDE4B +OMIM:600127 skos:exactMatch UMLS:C1418421 Unspecified PDE4B +OMIM:600127 skos:exactMatch HGNC_symbol:PDE4B Unspecified PDE4B +OMIM:147700 skos:exactMatch UMLS:C1415876 Unspecified IDH1 +OMIM:147700 skos:exactMatch HGNC_symbol:IDH1 Unspecified IDH1 +OMIM:147700 skos:exactMatch HGNC:5382 Unspecified IDH1 +OMIM:600126 skos:exactMatch HGNC:8780 Unspecified PDE4A +OMIM:600126 skos:exactMatch UMLS:C1418420 Unspecified PDE4A +OMIM:600126 skos:exactMatch HGNC_symbol:PDE4A Unspecified PDE4A +OMIM:600124 skos:exactMatch HGNC:5033 Unspecified HNRNPA2B1 +OMIM:600124 skos:exactMatch HGNC_symbol:HNRNPA2B1 Unspecified HNRNPA2B1 +OMIM:600124 skos:exactMatch UMLS:C1415636 Unspecified HNRNPA2B1 +OMIM:600123 skos:exactMatch ORPHA:1352 Unspecified atrioventricular septal defect with blepharophimosis and anal and radial defects +OMIM:600123 skos:exactMatch UMLS:C1838606 Unspecified atrioventricular septal defect with blepharophimosis and anal and radial defects +OMIM:600122 skos:exactMatch UMLS:C1838611 Unspecified male pseudohermaphroditism/mental retardation syndrome, verloes iia +OMIM:600143 skos:exactMatch ORPHA:79264 Unspecified ceroid lipofuscinosis, neuronal, 8 +OMIM:600143 skos:exactMatch UMLS:C1838570 Unspecified ceroid lipofuscinosis, neuronal, 8 +OMIM:600143 skos:exactMatch ORPHA:168491 Unspecified ceroid lipofuscinosis, neuronal, 8 +OMIM:600143 skos:exactMatch ORPHA:228354 Unspecified ceroid lipofuscinosis, neuronal, 8 +OMIM:602784 skos:exactMatch HGNC:2257 Unspecified CORT +OMIM:602784 skos:exactMatch UMLS:C1413627 Unspecified CORT +OMIM:602784 skos:exactMatch HGNC_symbol:CORT Unspecified CORT +OMIM:600142 skos:exactMatch UMLS:C1838577 Unspecified cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy +OMIM:600142 skos:exactMatch ORPHA:199354 Unspecified cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy +OMIM:602785 skos:exactMatch HGNC:4722 Unspecified H1FX +OMIM:602785 skos:exactMatch UMLS:C1415391 Unspecified H1FX +OMIM:602785 skos:exactMatch HGNC_symbol:H1-10 Unspecified H1FX +OMIM:600141 skos:exactMatch UMLS:C1415790 Unspecified HSPE1 +OMIM:600141 skos:exactMatch HGNC_symbol:HSPE1 Unspecified HSPE1 +OMIM:600141 skos:exactMatch HGNC:5269 Unspecified HSPE1 +OMIM:602786 skos:exactMatch HGNC:4724 Unspecified HIST1H2AE +OMIM:602786 skos:exactMatch HGNC_symbol:H2AC8 Unspecified HIST1H2AE +OMIM:602786 skos:exactMatch UMLS:C1415392 Unspecified HIST1H2AE +OMIM:600140 skos:exactMatch HGNC_symbol:CREBBP Unspecified CREBBP +OMIM:600140 skos:exactMatch UMLS:C1337090 Unspecified CREBBP +OMIM:600140 skos:exactMatch UMLS:C1838593 Unspecified CREBBP +OMIM:600140 skos:exactMatch HGNC:2348 Unspecified CREBBP +OMIM:602787 skos:exactMatch HGNC_symbol:H2AC13 Unspecified HIST1H2AI +OMIM:602787 skos:exactMatch HGNC:4725 Unspecified HIST1H2AI +OMIM:602787 skos:exactMatch UMLS:C1415393 Unspecified HIST1H2AI +OMIM:602788 skos:exactMatch HGNC_symbol:H2AC15 Unspecified HIST1H2AK +OMIM:602788 skos:exactMatch HGNC:4726 Unspecified HIST1H2AK +OMIM:602788 skos:exactMatch UMLS:C1415394 Unspecified HIST1H2AK +OMIM:612109 skos:exactMatch UMLS:C2677500 Unspecified oculoauricular syndrome +OMIM:612107 skos:exactMatch UMLS:C1424069 Unspecified SLC17A9 +OMIM:612107 skos:exactMatch HGNC_symbol:SLC17A9 Unspecified SLC17A9 +OMIM:612107 skos:exactMatch HGNC:16192 Unspecified SLC17A9 +OMIM:614769 skos:exactMatch HGNC_symbol:COA1 Unspecified COA1 +OMIM:614769 skos:exactMatch UMLS:C1824229 Unspecified COA1 +OMIM:614769 skos:exactMatch HGNC:21868 Unspecified COA1 +OMIM:612108 skos:exactMatch UMLS:C2677501 Unspecified fasting plasma glucose level quantitative trait locus 1 +OMIM:314370 skos:exactMatch UMLS:C1844934 Unspecified UBA1 +OMIM:314370 skos:exactMatch UMLS:C1421268 Unspecified UBA1 +OMIM:314370 skos:exactMatch HGNC_symbol:UBA1 Unspecified UBA1 +OMIM:314370 skos:exactMatch UMLS:C5436948 Unspecified UBA1 +OMIM:314370 skos:exactMatch HGNC:12469 Unspecified UBA1 +OMIM:614768 skos:exactMatch HGNC:28789 Unspecified TMEM66 +OMIM:614768 skos:exactMatch HGNC_symbol:SARAF Unspecified TMEM66 +OMIM:614768 skos:exactMatch UMLS:C1823330 Unspecified TMEM66 +OMIM:612105 skos:exactMatch HGNC_symbol:KLLN Unspecified KLLN +OMIM:612105 skos:exactMatch UMLS:C2677502 Unspecified KLLN +OMIM:612105 skos:exactMatch HGNC:37212 Unspecified KLLN +OMIM:614767 skos:exactMatch HGNC:15721 Unspecified STRN4 +OMIM:614767 skos:exactMatch HGNC_symbol:STRN4 Unspecified STRN4 +OMIM:614767 skos:exactMatch UMLS:C1423684 Unspecified STRN4 +OMIM:612106 skos:exactMatch UMLS:C1823906 Unspecified ZBTB40 +OMIM:612106 skos:exactMatch HGNC:29045 Unspecified ZBTB40 +OMIM:612106 skos:exactMatch HGNC_symbol:ZBTB40 Unspecified ZBTB40 +OMIM:614766 skos:exactMatch HGNC_symbol:STRN3 Unspecified STRN3 +OMIM:614766 skos:exactMatch UMLS:C1423683 Unspecified STRN3 +OMIM:614766 skos:exactMatch HGNC:15720 Unspecified STRN3 +OMIM:612103 skos:exactMatch HGNC:26232 Unspecified OBFC2A +OMIM:612103 skos:exactMatch UMLS:C1826503 Unspecified OBFC2A +OMIM:612103 skos:exactMatch HGNC_symbol:NABP1 Unspecified OBFC2A +OMIM:614765 skos:exactMatch HGNC:11424 Unspecified STRN +OMIM:614765 skos:exactMatch HGNC_symbol:STRN Unspecified STRN +OMIM:614765 skos:exactMatch UMLS:C1420489 Unspecified STRN +OMIM:612104 skos:exactMatch UMLS:C1826504 Unspecified OBFC2B +OMIM:612104 skos:exactMatch HGNC_symbol:NABP2 Unspecified OBFC2B +OMIM:612104 skos:exactMatch HGNC:28412 Unspecified OBFC2B +OMIM:612101 skos:exactMatch HGNC_symbol:PI4K2B Unspecified PI4K2B +OMIM:612101 skos:exactMatch UMLS:C1826582 Unspecified PI4K2B +OMIM:612101 skos:exactMatch HGNC:18215 Unspecified PI4K2B +OMIM:614764 skos:exactMatch HGNC_symbol:KATNAL1 Unspecified KATNAL1 +OMIM:614764 skos:exactMatch UMLS:C1428695 Unspecified KATNAL1 +OMIM:614764 skos:exactMatch HGNC:28361 Unspecified KATNAL1 +OMIM:612102 skos:exactMatch HGNC:31485 Unspecified MIRNLET7G +OMIM:612102 skos:exactMatch HGNC_symbol:MIRLET7G Unspecified MIRNLET7G +OMIM:612102 skos:exactMatch UMLS:C1537919 Unspecified MIRNLET7G +OMIM:614763 skos:exactMatch HGNC_symbol:GLYATL3 Unspecified GLYATL3 +OMIM:614763 skos:exactMatch HGNC:21349 Unspecified GLYATL3 +OMIM:614763 skos:exactMatch UMLS:C1427499 Unspecified GLYATL3 +OMIM:612110 skos:exactMatch UMLS:C2677499 Unspecified bone mineral density quantitative trait locus 9 +OMIM:614773 skos:exactMatch HGNC:21000 Unspecified MSS51 +OMIM:614773 skos:exactMatch HGNC_symbol:MSS51 Unspecified MSS51 +OMIM:614773 skos:exactMatch UMLS:C3471123 Unspecified MSS51 +OMIM:614772 skos:exactMatch UMLS:C4225304 Unspecified COA6 +OMIM:614772 skos:exactMatch HGNC:18025 Unspecified COA6 +OMIM:614772 skos:exactMatch UMLS:C1425251 Unspecified COA6 +OMIM:614772 skos:exactMatch HGNC_symbol:COA6 Unspecified COA6 +OMIM:612111 skos:exactMatch UMLS:C1424856 Unspecified TNFAIP8 +OMIM:612111 skos:exactMatch HGNC:17260 Unspecified TNFAIP8 +OMIM:612111 skos:exactMatch HGNC_symbol:TNFAIP8 Unspecified TNFAIP8 +OMIM:614771 skos:exactMatch HGNC:40045 Unspecified PET117 +OMIM:614771 skos:exactMatch UMLS:C5436723 Unspecified PET117 +OMIM:614771 skos:exactMatch UMLS:C3471365 Unspecified PET117 +OMIM:614771 skos:exactMatch HGNC_symbol:PET117 Unspecified PET117 +OMIM:614770 skos:exactMatch HGNC:40038 Unspecified PET100 +OMIM:614770 skos:exactMatch UMLS:C5436695 Unspecified PET100 +OMIM:614770 skos:exactMatch UMLS:C3541664 Unspecified PET100 +OMIM:614770 skos:exactMatch HGNC_symbol:PET100 Unspecified PET100 +OMIM:147710 skos:exactMatch UMLS:C0021933 Unspecified intussusception +OMIM:600138 skos:exactMatch UMLS:C1838601 Unspecified retinitis pigmentosa 11 +OMIM:600137 skos:exactMatch HGNC_symbol:MAP3K10 Unspecified MAP3K10 +OMIM:600137 skos:exactMatch HGNC:6849 Unspecified MAP3K10 +OMIM:600137 skos:exactMatch UMLS:C1417009 Unspecified MAP3K10 +OMIM:602790 skos:exactMatch HGNC_symbol:FHL3 Unspecified FHL3 +OMIM:602790 skos:exactMatch HGNC:3704 Unspecified FHL3 +OMIM:602790 skos:exactMatch UMLS:C1414613 Unspecified FHL3 +OMIM:600136 skos:exactMatch HGNC:6861 Unspecified MAP3K9 +OMIM:600136 skos:exactMatch UMLS:C1417016 Unspecified MAP3K9 +OMIM:600136 skos:exactMatch HGNC_symbol:MAP3K9 Unspecified MAP3K9 +OMIM:602791 skos:exactMatch HGNC:4727 Unspecified HIST1H2AJ +OMIM:602791 skos:exactMatch UMLS:C1415395 Unspecified HIST1H2AJ +OMIM:602791 skos:exactMatch HGNC_symbol:H2AC14 Unspecified HIST1H2AJ +OMIM:600135 skos:exactMatch UMLS:C1429080 Unspecified CTXN1 +OMIM:600135 skos:exactMatch HGNC_symbol:CTXN1 Unspecified CTXN1 +OMIM:600135 skos:exactMatch HGNC:31108 Unspecified CTXN1 +OMIM:602792 skos:exactMatch HGNC:4729 Unspecified HIST1H2AD +OMIM:602792 skos:exactMatch HGNC_symbol:H2AC7 Unspecified HIST1H2AD +OMIM:602792 skos:exactMatch UMLS:C1415397 Unspecified HIST1H2AD +OMIM:602793 skos:exactMatch HGNC:4730 Unspecified HIST1H2AL +OMIM:602793 skos:exactMatch UMLS:C1415398 Unspecified HIST1H2AL +OMIM:602793 skos:exactMatch HGNC_symbol:H2AC16 Unspecified HIST1H2AL +OMIM:600133 skos:exactMatch HGNC:6484 Unspecified LAMA4 +OMIM:600133 skos:exactMatch HGNC_symbol:LAMA4 Unspecified LAMA4 +OMIM:600133 skos:exactMatch UMLS:C1416778 Unspecified LAMA4 +OMIM:602794 skos:exactMatch HGNC:4733 Unspecified HIST1H2AC +OMIM:602794 skos:exactMatch HGNC_symbol:H2AC6 Unspecified HIST1H2AC +OMIM:602794 skos:exactMatch UMLS:C1415400 Unspecified HIST1H2AC +OMIM:600110 skos:exactMatch UMLS:C1838644 Unspecified stargardt disease 3 +OMIM:602773 skos:exactMatch UMLS:C1424449 Unspecified SLC49A4 +OMIM:602773 skos:exactMatch HGNC_symbol:SLC49A4 Unspecified SLC49A4 +OMIM:602773 skos:exactMatch HGNC:16628 Unspecified SLC49A4 +OMIM:602774 skos:exactMatch HGNC_symbol:RAD51C Unspecified RAD51C +OMIM:602774 skos:exactMatch HGNC:9820 Unspecified RAD51C +OMIM:602774 skos:exactMatch UMLS:C1335580 Unspecified RAD51C +OMIM:602775 skos:exactMatch UMLS:C1423500 Unspecified SHOC2 +OMIM:602775 skos:exactMatch UMLS:C4478716 Unspecified SHOC2 +OMIM:602775 skos:exactMatch HGNC_symbol:SHOC2 Unspecified SHOC2 +OMIM:602775 skos:exactMatch HGNC:15454 Unspecified SHOC2 +OMIM:602776 skos:exactMatch HGNC:9968 Unspecified REV3L +OMIM:602776 skos:exactMatch UMLS:C1419347 Unspecified REV3L +OMIM:602776 skos:exactMatch HGNC_symbol:REV3L Unspecified REV3L +OMIM:602777 skos:exactMatch HGNC:11137 Unspecified SNAPC4 +OMIM:602777 skos:exactMatch HGNC_symbol:SNAPC4 Unspecified SNAPC4 +OMIM:602777 skos:exactMatch UMLS:C1420275 Unspecified SNAPC4 +OMIM:602778 skos:exactMatch HGNC_symbol:NR6A1 Unspecified NR6A1 +OMIM:602778 skos:exactMatch HGNC:7985 Unspecified NR6A1 +OMIM:602778 skos:exactMatch UMLS:C1417840 Unspecified NR6A1 +OMIM:602779 skos:exactMatch HGNC_symbol:F2RL3 Unspecified F2RL3 +OMIM:602779 skos:exactMatch HGNC:3540 Unspecified F2RL3 +OMIM:602779 skos:exactMatch UMLS:C1414508 Unspecified F2RL3 +OMIM:614759 skos:exactMatch HGNC:26530 Unspecified CFAP53 +OMIM:614759 skos:exactMatch UMLS:C1539069 Unspecified CFAP53 +OMIM:614759 skos:exactMatch HGNC_symbol:CFAP53 Unspecified CFAP53 +OMIM:614758 skos:exactMatch HGNC_symbol:DCTN4 Unspecified DCTN4 +OMIM:614758 skos:exactMatch HGNC:15518 Unspecified DCTN4 +OMIM:614758 skos:exactMatch UMLS:C1423548 Unspecified DCTN4 +OMIM:614757 skos:exactMatch HGNC_symbol:IFITM5 Unspecified IFITM5 +OMIM:614757 skos:exactMatch UMLS:C1825562 Unspecified IFITM5 +OMIM:614757 skos:exactMatch HGNC:16644 Unspecified IFITM5 +OMIM:614756 skos:exactMatch ORPHA:314647 Unspecified cerebellar dysfunction with variable cognitive and behavioral abnormalities +OMIM:614756 skos:exactMatch UMLS:C3553661 Unspecified cerebellar dysfunction with variable cognitive and behavioral abnormalities +OMIM:614755 skos:exactMatch UMLS:C1826103 Unspecified MIR520H +OMIM:614755 skos:exactMatch HGNC:32125 Unspecified MIR520H +OMIM:614755 skos:exactMatch HGNC_symbol:MIR520H Unspecified MIR520H +OMIM:614754 skos:exactMatch HGNC:13909 Unspecified DMRT3 +OMIM:614754 skos:exactMatch UMLS:C1422263 Unspecified DMRT3 +OMIM:614754 skos:exactMatch HGNC_symbol:DMRT3 Unspecified DMRT3 +OMIM:614753 skos:exactMatch ORPHA:420179 Unspecified malan syndrome +OMIM:614753 skos:exactMatch UMLS:C3553660 Unspecified malan syndrome +OMIM:614752 skos:exactMatch UMLS:C3540094 Unspecified interleukin 6, serum level of, quantitative trait locus +OMIM:614762 skos:exactMatch HGNC_symbol:GLYATL2 Unspecified GLYATL2 +OMIM:614762 skos:exactMatch HGNC:24178 Unspecified GLYATL2 +OMIM:614762 skos:exactMatch UMLS:C1825377 Unspecified GLYATL2 +OMIM:612100 skos:exactMatch UMLS:C2677504 Unspecified autism, susceptibility to, 15 +OMIM:614761 skos:exactMatch HGNC_symbol:GLYATL1 Unspecified GLYATL1 +OMIM:614761 skos:exactMatch UMLS:C1825376 Unspecified GLYATL1 +OMIM:614761 skos:exactMatch HGNC:30519 Unspecified GLYATL1 +OMIM:614760 skos:exactMatch UMLS:C1428543 Unspecified PQLC2 +OMIM:614760 skos:exactMatch HGNC_symbol:SLC66A1 Unspecified PQLC2 +OMIM:614760 skos:exactMatch HGNC:26001 Unspecified PQLC2 +OMIM:147720 skos:exactMatch UMLS:C1334112 Unspecified IL1B +OMIM:147720 skos:exactMatch HGNC_symbol:IL1B Unspecified IL1B +OMIM:147720 skos:exactMatch HGNC:5992 Unspecified IL1B +OMIM:600108 skos:exactMatch UMLS:C1865832 Unspecified MMP13 +OMIM:600108 skos:exactMatch HGNC:7159 Unspecified MMP13 +OMIM:600108 skos:exactMatch HGNC_symbol:MMP13 Unspecified MMP13 +OMIM:600108 skos:exactMatch UMLS:C4016643 Unspecified MMP13 +OMIM:600108 skos:exactMatch UMLS:C1417202 Unspecified MMP13 +OMIM:600108 skos:exactMatch UMLS:C0432225 Unspecified MMP13 +OMIM:600106 skos:exactMatch HGNC:6076 Unspecified INPP5A +OMIM:600106 skos:exactMatch HGNC_symbol:INPP5A Unspecified INPP5A +OMIM:600106 skos:exactMatch UMLS:C1416444 Unspecified INPP5A +OMIM:600105 skos:exactMatch UMLS:C1838647 Unspecified retinitis pigmentosa 12 +OMIM:600104 skos:exactMatch HGNC:11510 Unspecified SYT2 +OMIM:600104 skos:exactMatch HGNC_symbol:SYT2 Unspecified SYT2 +OMIM:600104 skos:exactMatch UMLS:C1420557 Unspecified SYT2 +OMIM:602780 skos:exactMatch UMLS:C5193120 Unspecified HCN1 +OMIM:602780 skos:exactMatch UMLS:C4014531 Unspecified HCN1 +OMIM:602780 skos:exactMatch HGNC:4845 Unspecified HCN1 +OMIM:602780 skos:exactMatch UMLS:C1415498 Unspecified HCN1 +OMIM:602780 skos:exactMatch HGNC_symbol:HCN1 Unspecified HCN1 +OMIM:600103 skos:exactMatch HGNC:11512 Unspecified SYT4 +OMIM:600103 skos:exactMatch HGNC_symbol:SYT4 Unspecified SYT4 +OMIM:600103 skos:exactMatch UMLS:C1420559 Unspecified SYT4 +OMIM:160700 skos:exactMatch UMLS:C1834531 Unspecified myopia 2, autosomal dominant +OMIM:602781 skos:exactMatch HGNC:4846 Unspecified HCN2 +OMIM:602781 skos:exactMatch UMLS:C1415499 Unspecified HCN2 +OMIM:602781 skos:exactMatch HGNC_symbol:HCN2 Unspecified HCN2 +OMIM:602782 skos:exactMatch UMLS:C1864445 Unspecified histiocytosis-lymphadenopathy plus syndrome +OMIM:600101 skos:exactMatch UMLS:C2677637 Unspecified deafness, autosomal dominant 2a +OMIM:602783 skos:exactMatch HGNC_symbol:SPG7 Unspecified SPG7 +OMIM:602783 skos:exactMatch HGNC:11237 Unspecified SPG7 +OMIM:602783 skos:exactMatch UMLS:C1420354 Unspecified SPG7 +OMIM:135750 skos:exactMatch ORPHA:2378 Unspecified laurin-sandrow syndrome +OMIM:135750 skos:exactMatch UMLS:C1851100 Unspecified laurin-sandrow syndrome +OMIM:602762 skos:exactMatch HGNC:6451 Unspecified KRT33B +OMIM:602762 skos:exactMatch HGNC_symbol:KRT33B Unspecified KRT33B +OMIM:602762 skos:exactMatch UMLS:C1825749 Unspecified KRT33B +OMIM:600121 skos:exactMatch UMLS:C1838612 Unspecified rhizomelic chondrodysplasia punctata, iia 3 +OMIM:602763 skos:exactMatch HGNC_symbol:KRT34 Unspecified KRT34 +OMIM:602763 skos:exactMatch HGNC:6452 Unspecified KRT34 +OMIM:602763 skos:exactMatch UMLS:C1825750 Unspecified KRT34 +OMIM:602764 skos:exactMatch HGNC_symbol:KRT35 Unspecified KRT35 +OMIM:602764 skos:exactMatch HGNC:6453 Unspecified KRT35 +OMIM:602764 skos:exactMatch UMLS:C1825751 Unspecified KRT35 +OMIM:602765 skos:exactMatch HGNC_symbol:KRT83 Unspecified KRT83 +OMIM:602765 skos:exactMatch HGNC:6460 Unspecified KRT83 +OMIM:602765 skos:exactMatch UMLS:C1825770 Unspecified KRT83 +OMIM:602766 skos:exactMatch HGNC_symbol:KRT84 Unspecified KRT84 +OMIM:602766 skos:exactMatch HGNC:6461 Unspecified KRT84 +OMIM:602766 skos:exactMatch UMLS:C1825771 Unspecified KRT84 +OMIM:602767 skos:exactMatch HGNC_symbol:KRT85 Unspecified KRT85 +OMIM:602767 skos:exactMatch HGNC:6462 Unspecified KRT85 +OMIM:602767 skos:exactMatch UMLS:C1825772 Unspecified KRT85 +OMIM:159700 skos:exactMatch UMLS:C1834580 Unspecified +OMIM:602768 skos:exactMatch HGNC:2909 Unspecified DLL3 +OMIM:602768 skos:exactMatch HGNC_symbol:DLL3 Unspecified DLL3 +OMIM:602768 skos:exactMatch UMLS:C0265343 Unspecified DLL3 +OMIM:602768 skos:exactMatch UMLS:C1414071 Unspecified DLL3 +OMIM:602769 skos:exactMatch UMLS:C1414123 Unspecified DNMT3A +OMIM:602769 skos:exactMatch HGNC:2978 Unspecified DNMT3A +OMIM:602769 skos:exactMatch HGNC_symbol:DNMT3A Unspecified DNMT3A +OMIM:602769 skos:exactMatch UMLS:C5231475 Unspecified DNMT3A +OMIM:602769 skos:exactMatch UMLS:C4015936 Unspecified DNMT3A +OMIM:602769 skos:exactMatch UMLS:C4014545 Unspecified DNMT3A +OMIM:614749 skos:exactMatch UMLS:C3553637 Unspecified hyperphosphatasia with mental retardation syndrome 2 +OMIM:614748 skos:exactMatch UMLS:C3553636 Unspecified epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +OMIM:614747 skos:exactMatch UMLS:C3553635 Unspecified uric acid concentration, serum, quantitative trait locus 6 +OMIM:614746 skos:exactMatch UMLS:C3553634 Unspecified uric acid concentration, serum, quantitative trait locus 5 +OMIM:614745 skos:exactMatch UMLS:C3553633 Unspecified blood group, john milton hagen system +OMIM:614744 skos:exactMatch UMLS:C3553625 Unspecified facial paresis, hereditary congenital, 3 +OMIM:614743 skos:exactMatch UMLS:C3553622 Unspecified pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 +OMIM:614742 skos:exactMatch UMLS:C3553617 Unspecified pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 +OMIM:614741 skos:exactMatch UMLS:C3553607 Unspecified mitochondrial pyruvate carrier deficiency +OMIM:614751 skos:exactMatch UMLS:C3553656 Unspecified neuronopathy, distal hereditary motor, iia 5b +OMIM:614750 skos:exactMatch UMLS:C3553645 Unspecified myasthenic syndrome, congenital, 13 +OMIM:147730 skos:exactMatch UMLS:C1334114 Unspecified IL2RA +OMIM:147730 skos:exactMatch HGNC:6008 Unspecified IL2RA +OMIM:147730 skos:exactMatch HGNC_symbol:IL2RA Unspecified IL2RA +OMIM:147730 skos:exactMatch UMLS:C1866040 Unspecified IL2RA +OMIM:147730 skos:exactMatch UMLS:C5436940 Unspecified IL2RA +OMIM:147730 skos:exactMatch UMLS:C1853392 Unspecified IL2RA +OMIM:600119 skos:exactMatch HGNC_symbol:SGCA Unspecified SGCA +OMIM:600119 skos:exactMatch UMLS:C1420005 Unspecified SGCA +OMIM:600119 skos:exactMatch HGNC:10805 Unspecified SGCA +OMIM:600118 skos:exactMatch UMLS:C1838625 Unspecified warburg micro syndrome 1 +OMIM:600117 skos:exactMatch UMLS:C1838630 Unspecified dysphasia, familial developmental +OMIM:600116 skos:exactMatch UMLS:C1868675 Unspecified parkinson disease 2, autosomal recessive juvenile +OMIM:600114 skos:exactMatch HGNC_symbol:CCT3 Unspecified CCT3 +OMIM:600114 skos:exactMatch UMLS:C1413195 Unspecified CCT3 +OMIM:600114 skos:exactMatch HGNC:1616 Unspecified CCT3 +OMIM:602770 skos:exactMatch HGNC_symbol:CBX2 Unspecified CBX2 +OMIM:602770 skos:exactMatch HGNC:1552 Unspecified CBX2 +OMIM:602770 skos:exactMatch UMLS:C1413157 Unspecified CBX2 +OMIM:600112 skos:exactMatch UMLS:C1825005 Unspecified DYNC1H1 +OMIM:600112 skos:exactMatch HGNC_symbol:DYNC1H1 Unspecified DYNC1H1 +OMIM:600112 skos:exactMatch HGNC:2961 Unspecified DYNC1H1 +OMIM:602771 skos:exactMatch UMLS:C0410180 Unspecified rigid spine muscular dystrophy 1 +OMIM:602771 skos:exactMatch ORPHA:97244 Unspecified rigid spine muscular dystrophy 1 +OMIM:602771 skos:exactMatch ORPHA:598 Unspecified rigid spine muscular dystrophy 1 +OMIM:602771 skos:exactMatch ORPHA:84132 Unspecified rigid spine muscular dystrophy 1 +OMIM:602771 skos:exactMatch ORPHA:324604 Unspecified rigid spine muscular dystrophy 1 +OMIM:600111 skos:exactMatch UMLS:C1420121 Unspecified SLC1A3 +OMIM:600111 skos:exactMatch HGNC_symbol:SLC1A3 Unspecified SLC1A3 +OMIM:600111 skos:exactMatch HGNC:10941 Unspecified SLC1A3 +OMIM:602772 skos:exactMatch UMLS:C1864446 Unspecified retinitis pigmentosa 25 +OMIM:600176 skos:exactMatch UMLS:C1838491 Unspecified pachygyria with mental retardation, seizures, and arachnoid cysts +OMIM:600175 skos:exactMatch UMLS:C1838492 Unspecified neuronopathy, distal hereditary motor, iia 8 +OMIM:600174 skos:exactMatch HGNC:9001 Unspecified PITPNA +OMIM:600174 skos:exactMatch UMLS:C1538651 Unspecified PITPNA +OMIM:600174 skos:exactMatch HGNC_symbol:PITPNA Unspecified PITPNA +OMIM:160720 skos:exactMatch UMLS:C0265224 Unspecified MYH3 +OMIM:160720 skos:exactMatch UMLS:C5193114 Unspecified MYH3 +OMIM:160720 skos:exactMatch UMLS:C5193098 Unspecified MYH3 +OMIM:160720 skos:exactMatch UMLS:C1417538 Unspecified MYH3 +OMIM:160720 skos:exactMatch UMLS:C1867440 Unspecified MYH3 +OMIM:160720 skos:exactMatch HGNC:7573 Unspecified MYH3 +OMIM:160720 skos:exactMatch HGNC_symbol:MYH3 Unspecified MYH3 +OMIM:600173 skos:exactMatch HGNC_symbol:JAK3 Unspecified JAK3 +OMIM:600173 skos:exactMatch UMLS:C1334292 Unspecified JAK3 +OMIM:600173 skos:exactMatch HGNC:6193 Unspecified JAK3 +OMIM:600172 skos:exactMatch HGNC_symbol:MTF1 Unspecified MTF1 +OMIM:600172 skos:exactMatch HGNC:7428 Unspecified MTF1 +OMIM:600172 skos:exactMatch UMLS:C1417419 Unspecified MTF1 +OMIM:600171 skos:exactMatch UMLS:C0949331 Unspecified gonadal agenesis +OMIM:600170 skos:exactMatch HGNC:636 Unspecified AQP3 +OMIM:600170 skos:exactMatch UMLS:C1412493 Unspecified AQP3 +OMIM:600170 skos:exactMatch HGNC_symbol:AQP3 Unspecified AQP3 +OMIM:133100 skos:exactMatch UMLS:C4551637 Unspecified erythrocytosis, familial, 1 +OMIM:172700 skos:exactMatch UMLS:C0236642 Unspecified pick disease of brain +OMIM:612158 skos:exactMatch UMLS:C4225403 Unspecified cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction +OMIM:612158 skos:exactMatch UMLS:C2677338 Unspecified cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction +OMIM:612159 skos:exactMatch HGNC:17056 Unspecified RPH3A +OMIM:612159 skos:exactMatch HGNC_symbol:RPH3A Unspecified RPH3A +OMIM:612159 skos:exactMatch UMLS:C1424713 Unspecified RPH3A +OMIM:612156 skos:exactMatch UMLS:C1537744 Unspecified MIR33A +OMIM:612156 skos:exactMatch HGNC_symbol:MIR33A Unspecified MIR33A +OMIM:612156 skos:exactMatch HGNC:31634 Unspecified MIR33A +OMIM:612157 skos:exactMatch HGNC:17927 Unspecified SENP1 +OMIM:612157 skos:exactMatch HGNC_symbol:SENP1 Unspecified SENP1 +OMIM:612157 skos:exactMatch UMLS:C1425182 Unspecified SENP1 +OMIM:612157 skos:exactMatch UMLS:C3888199 Unspecified SENP1 +OMIM:612165 skos:exactMatch UMLS:C2677325 Unspecified retinitis pigmentosa 29 +OMIM:612166 skos:exactMatch UMLS:C1424763 Unspecified SLC39A2 +OMIM:612166 skos:exactMatch HGNC_symbol:SLC39A2 Unspecified SLC39A2 +OMIM:612166 skos:exactMatch HGNC:17127 Unspecified SLC39A2 +OMIM:612163 skos:exactMatch UMLS:C1427150 Unspecified TPCN2 +OMIM:612163 skos:exactMatch HGNC:20820 Unspecified TPCN2 +OMIM:612163 skos:exactMatch HGNC_symbol:TPCN2 Unspecified TPCN2 +OMIM:612164 skos:exactMatch ORPHA:33069 Unspecified developmental and epileptic encephalopathy 4 +OMIM:612164 skos:exactMatch UMLS:C2677326 Unspecified developmental and epileptic encephalopathy 4 +OMIM:612164 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 4 +OMIM:612161 skos:exactMatch UMLS:C2677337 Unspecified aneurysm, intracranial berry, 7 +OMIM:612162 skos:exactMatch UMLS:C2677336 Unspecified aneurysm, intracranial berry, 8 +OMIM:147740 skos:exactMatch UMLS:C1334117 Unspecified IL3 +OMIM:147740 skos:exactMatch HGNC:6011 Unspecified IL3 +OMIM:147740 skos:exactMatch HGNC_symbol:IL3 Unspecified IL3 +OMIM:612160 skos:exactMatch UMLS:C1266127 Unspecified histiocytoma, angiomatoid fibrous +OMIM:600169 skos:exactMatch UMLS:C1417162 Unspecified MICA +OMIM:600169 skos:exactMatch HGNC_symbol:MICA Unspecified MICA +OMIM:600169 skos:exactMatch HGNC:7090 Unspecified MICA +OMIM:600168 skos:exactMatch HGNC_symbol:MST1R Unspecified MST1R +OMIM:600168 skos:exactMatch UMLS:C1364082 Unspecified MST1R +OMIM:600168 skos:exactMatch HGNC:7381 Unspecified MST1R +OMIM:600167 skos:exactMatch HGNC_symbol:HRH1 Unspecified HRH1 +OMIM:600167 skos:exactMatch UMLS:C1439351 Unspecified HRH1 +OMIM:600167 skos:exactMatch HGNC:5182 Unspecified HRH1 +OMIM:600166 skos:exactMatch UMLS:C1838501 Unspecified hyperparathyroidism, primary, caused by water clear cell hyperplasia +OMIM:600187 skos:exactMatch UMLS:C1414360 Unspecified EIF5A +OMIM:600187 skos:exactMatch HGNC_symbol:EIF5A Unspecified EIF5A +OMIM:600187 skos:exactMatch HGNC:3300 Unspecified EIF5A +OMIM:600185 skos:exactMatch UMLS:C2751641 Unspecified BRCA2 +OMIM:600185 skos:exactMatch HGNC_symbol:BRCA2 Unspecified BRCA2 +OMIM:600185 skos:exactMatch UMLS:C0376358 Unspecified BRCA2 +OMIM:600185 skos:exactMatch UMLS:C0598034 Unspecified BRCA2 +OMIM:600185 skos:exactMatch UMLS:C0027708 Unspecified BRCA2 +OMIM:600185 skos:exactMatch UMLS:C0025149 Unspecified BRCA2 +OMIM:600185 skos:exactMatch UMLS:C2675520 Unspecified BRCA2 +OMIM:600185 skos:exactMatch UMLS:C3150546 Unspecified BRCA2 +OMIM:600185 skos:exactMatch UMLS:C4015968 Unspecified BRCA2 +OMIM:600185 skos:exactMatch UMLS:C1838457 Unspecified BRCA2 +OMIM:600185 skos:exactMatch HGNC:1101 Unspecified BRCA2 +OMIM:600184 skos:exactMatch UMLS:C1413700 Unspecified CRAT +OMIM:600184 skos:exactMatch HGNC_symbol:CRAT Unspecified CRAT +OMIM:600184 skos:exactMatch HGNC:2342 Unspecified CRAT +OMIM:600183 skos:exactMatch UMLS:C1333258 Unspecified DUSP3 +OMIM:600183 skos:exactMatch HGNC:3069 Unspecified DUSP3 +OMIM:600183 skos:exactMatch HGNC_symbol:DUSP3 Unspecified DUSP3 +OMIM:184700 skos:exactMatch UMLS:C0032460 Unspecified polycystic ovary syndrome 1 +OMIM:600182 skos:exactMatch UMLS:C1442753 Unspecified SLC7A5 +OMIM:600182 skos:exactMatch HGNC:11063 Unspecified SLC7A5 +OMIM:600182 skos:exactMatch HGNC_symbol:SLC7A5 Unspecified SLC7A5 +OMIM:600181 skos:exactMatch HGNC:6526 Unspecified LCN2 +OMIM:600181 skos:exactMatch HGNC_symbol:LCN2 Unspecified LCN2 +OMIM:600181 skos:exactMatch UMLS:C1416806 Unspecified LCN2 +OMIM:612149 skos:exactMatch HGNC_symbol:RBFOX2 Unspecified RBFOX2 +OMIM:612149 skos:exactMatch HGNC:9906 Unspecified RBFOX2 +OMIM:612149 skos:exactMatch UMLS:C1419304 Unspecified RBFOX2 +OMIM:612147 skos:exactMatch HGNC_symbol:MYLK3 Unspecified MYLK3 +OMIM:612147 skos:exactMatch HGNC:29826 Unspecified MYLK3 +OMIM:612147 skos:exactMatch UMLS:C2239763 Unspecified MYLK3 +OMIM:612148 skos:exactMatch UMLS:C1537920 Unspecified MIRNLET7I +OMIM:612148 skos:exactMatch HGNC_symbol:MIRLET7I Unspecified MIRNLET7I +OMIM:612148 skos:exactMatch HGNC:31486 Unspecified MIRNLET7I +OMIM:612145 skos:exactMatch UMLS:C1537915 Unspecified MIRNLET7D +OMIM:612145 skos:exactMatch HGNC_symbol:MIRLET7D Unspecified MIRNLET7D +OMIM:612145 skos:exactMatch HGNC:31481 Unspecified MIRNLET7D +OMIM:612146 skos:exactMatch HGNC_symbol:MIRLET7F1 Unspecified MIRLET7F1 +OMIM:612146 skos:exactMatch UMLS:C1537917 Unspecified MIRLET7F1 +OMIM:612146 skos:exactMatch HGNC:31483 Unspecified MIRLET7F1 +OMIM:612154 skos:exactMatch UMLS:C1537731 Unspecified MIR28 +OMIM:612154 skos:exactMatch HGNC_symbol:MIR28 Unspecified MIR28 +OMIM:612154 skos:exactMatch HGNC:31615 Unspecified MIR28 +OMIM:147750 skos:exactMatch ORPHA:2307 Unspecified ivic syndrome +OMIM:147750 skos:exactMatch UMLS:C1327918 Unspecified ivic syndrome +OMIM:612155 skos:exactMatch UMLS:C1537742 Unspecified MIR31 +OMIM:612155 skos:exactMatch HGNC_symbol:MIR31 Unspecified MIR31 +OMIM:612155 skos:exactMatch HGNC:31630 Unspecified MIR31 +OMIM:231550 skos:exactMatch UMLS:C0271742 Unspecified achalasia-addisonianism-alacrima syndrome +OMIM:612152 skos:exactMatch HGNC:31612 Unspecified MIR26B +OMIM:612152 skos:exactMatch UMLS:C1537728 Unspecified MIR26B +OMIM:612152 skos:exactMatch HGNC_symbol:MIR26B Unspecified MIR26B +OMIM:612153 skos:exactMatch HGNC_symbol:MIR27A Unspecified MIR27A +OMIM:612153 skos:exactMatch UMLS:C1537729 Unspecified MIR27A +OMIM:612153 skos:exactMatch HGNC:31613 Unspecified MIR27A +OMIM:612150 skos:exactMatch HGNC_symbol:MIR25 Unspecified MIR25 +OMIM:612150 skos:exactMatch HGNC:31609 Unspecified MIR25 +OMIM:612150 skos:exactMatch UMLS:C1537725 Unspecified MIR25 +OMIM:612151 skos:exactMatch HGNC:31610 Unspecified MIR26A1 +OMIM:612151 skos:exactMatch HGNC_symbol:MIR26A1 Unspecified MIR26A1 +OMIM:612151 skos:exactMatch UMLS:C1537726 Unspecified MIR26A1 +OMIM:160710 skos:exactMatch HGNC_symbol:MYH6 Unspecified MYH6 +OMIM:160710 skos:exactMatch UMLS:C4016269 Unspecified MYH6 +OMIM:160710 skos:exactMatch UMLS:C1417541 Unspecified MYH6 +OMIM:160710 skos:exactMatch UMLS:C3279791 Unspecified MYH6 +OMIM:160710 skos:exactMatch UMLS:C3279790 Unspecified MYH6 +OMIM:160710 skos:exactMatch UMLS:C2750466 Unspecified MYH6 +OMIM:160710 skos:exactMatch UMLS:C2750467 Unspecified MYH6 +OMIM:160710 skos:exactMatch HGNC:7576 Unspecified MYH6 +OMIM:600179 skos:exactMatch HGNC:4689 Unspecified GUCY2D +OMIM:600179 skos:exactMatch UMLS:C1415364 Unspecified GUCY2D +OMIM:600179 skos:exactMatch HGNC_symbol:GUCY2D Unspecified GUCY2D +OMIM:600178 skos:exactMatch HGNC_symbol:MAP1A Unspecified MAP1A +OMIM:600178 skos:exactMatch HGNC:6835 Unspecified MAP1A +OMIM:600178 skos:exactMatch UMLS:C1417003 Unspecified MAP1A +OMIM:184705 skos:exactMatch UMLS:C1866649 Unspecified steinfeld syndrome +OMIM:600154 skos:exactMatch UMLS:C1418565 Unspecified PIGH +OMIM:600154 skos:exactMatch HGNC:8964 Unspecified PIGH +OMIM:600154 skos:exactMatch HGNC_symbol:PIGH Unspecified PIGH +OMIM:160740 skos:exactMatch UMLS:C1854106 Unspecified MYH2 +OMIM:160740 skos:exactMatch UMLS:C1417537 Unspecified MYH2 +OMIM:160740 skos:exactMatch HGNC:7572 Unspecified MYH2 +OMIM:160740 skos:exactMatch HGNC_symbol:MYH2 Unspecified MYH2 +OMIM:600153 skos:exactMatch HGNC:8962 Unspecified PIGF +OMIM:600153 skos:exactMatch UMLS:C1418563 Unspecified PIGF +OMIM:600153 skos:exactMatch HGNC_symbol:PIGF Unspecified PIGF +OMIM:160741 skos:exactMatch UMLS:C1417543 Unspecified MYH8 +OMIM:160741 skos:exactMatch HGNC:7578 Unspecified MYH8 +OMIM:160741 skos:exactMatch HGNC_symbol:MYH8 Unspecified MYH8 +OMIM:600152 skos:exactMatch HGNC:10697 Unspecified SEC13 +OMIM:600152 skos:exactMatch HGNC_symbol:SEC13 Unspecified SEC13 +OMIM:600152 skos:exactMatch UMLS:C1822665 Unspecified SEC13 +OMIM:160742 skos:exactMatch UMLS:C1417539 Unspecified MYH4 +OMIM:160742 skos:exactMatch HGNC:7574 Unspecified MYH4 +OMIM:160742 skos:exactMatch HGNC_symbol:MYH4 Unspecified MYH4 +OMIM:267500 skos:exactMatch UMLS:C0272167 Unspecified reticular dysgenesis +OMIM:600151 skos:exactMatch UMLS:C1859564 Unspecified bardet-biedl syndrome 3 +OMIM:600151 skos:exactMatch ORPHA:110 Unspecified bardet-biedl syndrome 3 +OMIM:600150 skos:exactMatch UMLS:C4539985 Unspecified KCNMA1 +OMIM:600150 skos:exactMatch UMLS:C1416602 Unspecified KCNMA1 +OMIM:600150 skos:exactMatch UMLS:C1836173 Unspecified KCNMA1 +OMIM:600150 skos:exactMatch UMLS:C4540548 Unspecified KCNMA1 +OMIM:600150 skos:exactMatch HGNC:6284 Unspecified KCNMA1 +OMIM:600150 skos:exactMatch HGNC_symbol:KCNMA1 Unspecified KCNMA1 +OMIM:600150 skos:exactMatch UMLS:C5231479 Unspecified KCNMA1 +OMIM:600150 skos:exactMatch UMLS:C5231421 Unspecified KCNMA1 +OMIM:612138 skos:exactMatch UMLS:C2677349 Unspecified epidermolysis bullosa simplex 5c, with pyloric atresia +OMIM:612139 skos:exactMatch HGNC_symbol:PREX2 Unspecified PREX2 +OMIM:612139 skos:exactMatch HGNC:22950 Unspecified PREX2 +OMIM:612139 skos:exactMatch UMLS:C1427805 Unspecified PREX2 +OMIM:612136 skos:exactMatch HGNC_symbol:ECHDC1 Unspecified ECHDC1 +OMIM:612136 skos:exactMatch HGNC:21489 Unspecified ECHDC1 +OMIM:612136 skos:exactMatch UMLS:C1427578 Unspecified ECHDC1 +OMIM:614799 skos:exactMatch UMLS:C1823729 Unspecified C1ORF109 +OMIM:614799 skos:exactMatch HGNC_symbol:C1orf109 Unspecified C1ORF109 +OMIM:614799 skos:exactMatch HGNC:26039 Unspecified C1ORF109 +OMIM:614798 skos:exactMatch UMLS:C1418454 Unspecified PELI2 +OMIM:614798 skos:exactMatch HGNC_symbol:PELI2 Unspecified PELI2 +OMIM:614798 skos:exactMatch HGNC:8828 Unspecified PELI2 +OMIM:612137 skos:exactMatch HGNC_symbol:RNF146 Unspecified RNF146 +OMIM:612137 skos:exactMatch HGNC:21336 Unspecified RNF146 +OMIM:612137 skos:exactMatch UMLS:C1427491 Unspecified RNF146 +OMIM:612134 skos:exactMatch HGNC_symbol:GLCE Unspecified GLCE +OMIM:612134 skos:exactMatch UMLS:C1825366 Unspecified GLCE +OMIM:612134 skos:exactMatch HGNC:17855 Unspecified GLCE +OMIM:614797 skos:exactMatch UMLS:C1418453 Unspecified PELI1 +OMIM:614797 skos:exactMatch HGNC_symbol:PELI1 Unspecified PELI1 +OMIM:614797 skos:exactMatch HGNC:8827 Unspecified PELI1 +OMIM:612135 skos:exactMatch HGNC_symbol:CABYR Unspecified CABYR +OMIM:612135 skos:exactMatch UMLS:C1423581 Unspecified CABYR +OMIM:612135 skos:exactMatch HGNC:15569 Unspecified CABYR +OMIM:614796 skos:exactMatch UMLS:C1540194 Unspecified AGPAT5 +OMIM:614796 skos:exactMatch HGNC:20886 Unspecified AGPAT5 +OMIM:614796 skos:exactMatch HGNC_symbol:AGPAT5 Unspecified AGPAT5 +OMIM:612143 skos:exactMatch HGNC_symbol:MIRLET7A3 Unspecified MIRNLET7A3 +OMIM:612143 skos:exactMatch UMLS:C1537912 Unspecified MIRNLET7A3 +OMIM:612143 skos:exactMatch HGNC:31478 Unspecified MIRNLET7A3 +OMIM:147760 skos:exactMatch HGNC_symbol:IL1A Unspecified IL1A +OMIM:147760 skos:exactMatch HGNC:5991 Unspecified IL1A +OMIM:147760 skos:exactMatch UMLS:C1334111 Unspecified IL1A +OMIM:612144 skos:exactMatch UMLS:C1537914 Unspecified MIRLET7C +OMIM:612144 skos:exactMatch HGNC_symbol:MIRLET7C Unspecified MIRLET7C +OMIM:612144 skos:exactMatch HGNC:31480 Unspecified MIRLET7C +OMIM:612141 skos:exactMatch HGNC_symbol:EPB41L4A Unspecified EPB41L4A +OMIM:612141 skos:exactMatch UMLS:C1421919 Unspecified EPB41L4A +OMIM:612141 skos:exactMatch HGNC:13278 Unspecified EPB41L4A +OMIM:612142 skos:exactMatch HGNC_symbol:MIRLET7A2 Unspecified MIRLET7A2 +OMIM:612142 skos:exactMatch UMLS:C1537911 Unspecified MIRLET7A2 +OMIM:612142 skos:exactMatch HGNC:31477 Unspecified MIRLET7A2 +OMIM:612140 skos:exactMatch UMLS:C4282397 Unspecified SEPT14 +OMIM:612140 skos:exactMatch HGNC:33280 Unspecified SEPT14 +OMIM:612140 skos:exactMatch HGNC_symbol:SEPTIN14 Unspecified SEPT14 +OMIM:612140 skos:exactMatch UMLS:C2239921 Unspecified SEPT14 +OMIM:145100 skos:exactMatch UMLS:C0155211 Unspecified hyperpigmentation of eyelids +OMIM:600149 skos:exactMatch HGNC:4292 Unspecified glycerol kinase 3 pseudogene +OMIM:600149 skos:exactMatch HGNC_symbol:GK3P Unspecified glycerol kinase 3 pseudogene +OMIM:600149 skos:exactMatch UMLS:C3887941 Unspecified glycerol kinase 3 pseudogene +OMIM:600148 skos:exactMatch HGNC:4291 Unspecified GK2 +OMIM:600148 skos:exactMatch UMLS:C3887940 Unspecified GK2 +OMIM:600148 skos:exactMatch HGNC_symbol:GK2 Unspecified GK2 +OMIM:600147 skos:exactMatch HGNC_symbol:MEOX1 Unspecified MEOX1 +OMIM:600147 skos:exactMatch UMLS:C1417111 Unspecified MEOX1 +OMIM:600147 skos:exactMatch HGNC:7013 Unspecified MEOX1 +OMIM:600145 skos:exactMatch UMLS:C0344490 Unspecified sacral defect with anterior meningocele +OMIM:600145 skos:exactMatch UMLS:C0037205 Unspecified sacral defect with anterior meningocele +OMIM:600145 skos:exactMatch UMLS:C1838569 Unspecified sacral defect with anterior meningocele +OMIM:600145 skos:exactMatch UMLS:C1838568 Unspecified sacral defect with anterior meningocele +OMIM:600145 skos:exactMatch UMLS:C0300948 Unspecified sacral defect with anterior meningocele +OMIM:160745 skos:exactMatch HGNC_symbol:MYH11 Unspecified MYH11 +OMIM:160745 skos:exactMatch UMLS:C3277202 Unspecified MYH11 +OMIM:160745 skos:exactMatch UMLS:C1334538 Unspecified MYH11 +OMIM:160745 skos:exactMatch HGNC:7569 Unspecified MYH11 +OMIM:600144 skos:exactMatch UMLS:C1416518 Unspecified ITPR2 +OMIM:600144 skos:exactMatch HGNC:6181 Unspecified ITPR2 +OMIM:600144 skos:exactMatch HGNC_symbol:ITPR2 Unspecified ITPR2 +OMIM:600165 skos:exactMatch UMLS:C1838502 Unspecified nanophthalmos 1 +OMIM:600164 skos:exactMatch UMLS:C1415041 Unspecified GEM +OMIM:600164 skos:exactMatch HGNC_symbol:GEM Unspecified GEM +OMIM:600164 skos:exactMatch HGNC:4234 Unspecified GEM +OMIM:600163 skos:exactMatch UMLS:C1879286 Unspecified SCN5A +OMIM:600163 skos:exactMatch HGNC:10593 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C1838527 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C2748542 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C3276241 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C3276240 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C1837845 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C0428908 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C2751898 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C1859062 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C4551804 Unspecified SCN5A +OMIM:600163 skos:exactMatch HGNC_symbol:SCN5A Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C1832680 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C4016652 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C1419864 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C3151464 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C1861983 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C1861984 Unspecified SCN5A +OMIM:600163 skos:exactMatch UMLS:C0038644 Unspecified SCN5A +OMIM:160730 skos:exactMatch UMLS:C1417534 Unspecified MYH1 +OMIM:160730 skos:exactMatch HGNC:7567 Unspecified MYH1 +OMIM:160730 skos:exactMatch HGNC_symbol:MYH1 Unspecified MYH1 +OMIM:600162 skos:exactMatch UMLS:C1838542 Unspecified PWAR5 +OMIM:600162 skos:exactMatch HGNC:30090 Unspecified PWAR5 +OMIM:600162 skos:exactMatch HGNC_symbol:PWAR5 Unspecified PWAR5 +OMIM:304900 skos:exactMatch UMLS:C0687720 Unspecified diabetes insipidus, neurohypophyseal, X-linked +OMIM:600161 skos:exactMatch HGNC:30089 Unspecified PWAR1 +OMIM:600161 skos:exactMatch UMLS:C1838543 Unspecified PWAR1 +OMIM:600161 skos:exactMatch HGNC_symbol:PWAR1 Unspecified PWAR1 +OMIM:600160 skos:exactMatch HGNC_symbol:CDKN2A Unspecified CDKN2A +OMIM:600160 skos:exactMatch HGNC:1787 Unspecified CDKN2A +OMIM:600160 skos:exactMatch UMLS:C0525037 Unspecified CDKN2A +OMIM:612129 skos:exactMatch HGNC_symbol:IDO2 Unspecified IDO2 +OMIM:612129 skos:exactMatch UMLS:C1825601 Unspecified IDO2 +OMIM:612129 skos:exactMatch HGNC:27269 Unspecified IDO2 +OMIM:612127 skos:exactMatch UMLS:C1425705 Unspecified HSD17B13 +OMIM:612127 skos:exactMatch HGNC_symbol:HSD17B13 Unspecified HSD17B13 +OMIM:612127 skos:exactMatch HGNC:18685 Unspecified HSD17B13 +OMIM:614789 skos:exactMatch UMLS:C3809092 Unspecified EOGT +OMIM:614789 skos:exactMatch UMLS:C1824159 Unspecified EOGT +OMIM:614789 skos:exactMatch HGNC:28526 Unspecified EOGT +OMIM:614789 skos:exactMatch HGNC_symbol:EOGT Unspecified EOGT +OMIM:612128 skos:exactMatch HGNC_symbol:RASL10B Unspecified RASL10B +OMIM:612128 skos:exactMatch UMLS:C1428957 Unspecified RASL10B +OMIM:612128 skos:exactMatch HGNC:30295 Unspecified RASL10B +OMIM:612125 skos:exactMatch HGNC_symbol:SERTAD3 Unspecified SERTAD3 +OMIM:612125 skos:exactMatch HGNC:17931 Unspecified SERTAD3 +OMIM:612125 skos:exactMatch UMLS:C1425185 Unspecified SERTAD3 +OMIM:614788 skos:exactMatch HGNC:19117 Unspecified FGD5 +OMIM:614788 skos:exactMatch HGNC_symbol:FGD5 Unspecified FGD5 +OMIM:614788 skos:exactMatch UMLS:C1426023 Unspecified FGD5 +OMIM:612126 skos:exactMatch UMLS:C1842534 Unspecified glut1 deficiency syndrome 2 +OMIM:614787 skos:exactMatch HGNC_symbol:POGZ Unspecified POGZ +OMIM:614787 skos:exactMatch HGNC:18801 Unspecified POGZ +OMIM:614787 skos:exactMatch UMLS:C1425785 Unspecified POGZ +OMIM:612123 skos:exactMatch HGNC_symbol:PNPLA8 Unspecified PNPLA8 +OMIM:612123 skos:exactMatch UMLS:C1826639 Unspecified PNPLA8 +OMIM:612123 skos:exactMatch HGNC:28900 Unspecified PNPLA8 +OMIM:614786 skos:exactMatch UMLS:C2240111 Unspecified TMEM207 +OMIM:614786 skos:exactMatch HGNC:33705 Unspecified TMEM207 +OMIM:614786 skos:exactMatch HGNC_symbol:TMEM207 Unspecified TMEM207 +OMIM:614785 skos:exactMatch HGNC:24858 Unspecified MFF +OMIM:614785 skos:exactMatch UMLS:C1540223 Unspecified MFF +OMIM:614785 skos:exactMatch HGNC_symbol:MFF Unspecified MFF +OMIM:612124 skos:exactMatch UMLS:C2677491 Unspecified cardiomyopathy, familial hypertrophic, 12 +OMIM:612132 skos:exactMatch ORPHA:238468 Unspecified ectodermal dysplasia and immunodeficiency 2 +OMIM:612132 skos:exactMatch ORPHA:98813 Unspecified ectodermal dysplasia and immunodeficiency 2 +OMIM:612132 skos:exactMatch UMLS:C2677481 Unspecified ectodermal dysplasia and immunodeficiency 2 +OMIM:614795 skos:exactMatch UMLS:C1427190 Unspecified AGPAT4 +OMIM:614795 skos:exactMatch HGNC:20885 Unspecified AGPAT4 +OMIM:614795 skos:exactMatch HGNC_symbol:AGPAT4 Unspecified AGPAT4 +OMIM:612133 skos:exactMatch HGNC_symbol:NFE4 Unspecified NFE4 +OMIM:612133 skos:exactMatch HGNC:29902 Unspecified NFE4 +OMIM:612133 skos:exactMatch UMLS:C2677479 Unspecified NFE4 +OMIM:614794 skos:exactMatch HGNC:326 Unspecified AGPAT3 +OMIM:614794 skos:exactMatch HGNC_symbol:AGPAT3 Unspecified AGPAT3 +OMIM:614794 skos:exactMatch UMLS:C1412283 Unspecified AGPAT3 +OMIM:147770 skos:exactMatch UMLS:C0796002 Unspecified johnson neuroectodermal syndrome +OMIM:147770 skos:exactMatch ORPHA:2316 Unspecified johnson neuroectodermal syndrome +OMIM:614793 skos:exactMatch UMLS:C3553689 Unspecified MAP3K21 +OMIM:614793 skos:exactMatch HGNC:29798 Unspecified MAP3K21 +OMIM:614793 skos:exactMatch HGNC_symbol:MAP3K21 Unspecified MAP3K21 +OMIM:612130 skos:exactMatch UMLS:C2677489 Unspecified GAEC1 +OMIM:614792 skos:exactMatch HGNC_symbol:TMUB1 Unspecified TMUB1 +OMIM:614792 skos:exactMatch HGNC:21709 Unspecified TMUB1 +OMIM:614792 skos:exactMatch UMLS:C1823455 Unspecified TMUB1 +OMIM:612131 skos:exactMatch HGNC:16888 Unspecified DHRS9 +OMIM:612131 skos:exactMatch HGNC_symbol:DHRS9 Unspecified DHRS9 +OMIM:612131 skos:exactMatch UMLS:C1424616 Unspecified DHRS9 +OMIM:614791 skos:exactMatch HGNC_symbol:MIR199B Unspecified MIR199B +OMIM:614791 skos:exactMatch UMLS:C1537837 Unspecified MIR199B +OMIM:614791 skos:exactMatch HGNC:31573 Unspecified MIR199B +OMIM:614790 skos:exactMatch HGNC_symbol:WTIP Unspecified WTIP +OMIM:614790 skos:exactMatch HGNC:20964 Unspecified WTIP +OMIM:614790 skos:exactMatch UMLS:C1538114 Unspecified WTIP +OMIM:600159 skos:exactMatch UMLS:C1838562 Unspecified pterygium colli and mental retardation with facial and digital anomalies +OMIM:600157 skos:exactMatch HGNC_symbol:AP1B1 Unspecified AP1B1 +OMIM:600157 skos:exactMatch UMLS:C1275089 Unspecified AP1B1 +OMIM:600157 skos:exactMatch HGNC:554 Unspecified AP1B1 +OMIM:600157 skos:exactMatch UMLS:C1412434 Unspecified AP1B1 +OMIM:600156 skos:exactMatch UMLS:C1970723 Unspecified hirschsprung disease, susceptibility to, 5 +OMIM:600155 skos:exactMatch UMLS:C1838564 Unspecified hirschsprung disease, susceptibility to, 2 +OMIM:304950 skos:exactMatch UMLS:C1844654 Unspecified dyggve-melchior-clausen syndrome, X-linked +OMIM:218550 skos:exactMatch UMLS:C1857492 Unspecified craniosynostosis with fibular aplasia +OMIM:160760 skos:exactMatch HGNC:7577 Unspecified MYH7 +OMIM:160760 skos:exactMatch HGNC_symbol:MYH7 Unspecified MYH7 +OMIM:160760 skos:exactMatch UMLS:C1417542 Unspecified MYH7 +OMIM:147790 skos:exactMatch UMLS:C1416161 Unspecified JCHAIN +OMIM:147790 skos:exactMatch HGNC_symbol:JCHAIN Unspecified JCHAIN +OMIM:147790 skos:exactMatch HGNC:5713 Unspecified JCHAIN +OMIM:147781 skos:exactMatch UMLS:C1334118 Unspecified IL4R +OMIM:147781 skos:exactMatch HGNC:6015 Unspecified IL4R +OMIM:147781 skos:exactMatch HGNC_symbol:IL4R Unspecified IL4R +OMIM:147780 skos:exactMatch HGNC_symbol:IL4 Unspecified IL4 +OMIM:147780 skos:exactMatch UMLS:C1334119 Unspecified IL4 +OMIM:147780 skos:exactMatch HGNC:6014 Unspecified IL4 +OMIM:206570 skos:exactMatch UMLS:C1859783 Unspecified angiomatosis, diffuse corticomeningeal, of divry and van bogaert +OMIM:160750 skos:exactMatch UMLS:C0027121 Unspecified myositis +OMIM:160750 skos:exactMatch UMLS:C3888318 Unspecified myositis +OMIM:612189 skos:exactMatch HGNC_symbol:PBLD Unspecified PBLD +OMIM:612189 skos:exactMatch HGNC:23301 Unspecified PBLD +OMIM:612189 skos:exactMatch UMLS:C1826546 Unspecified PBLD +OMIM:612198 skos:exactMatch UMLS:C2677303 Unspecified diastasis recti and weakness of the linea alba +OMIM:612199 skos:exactMatch UMLS:C4552029 Unspecified cerebroretinal microangiopathy with calcifications and cysts 1 +OMIM:612196 skos:exactMatch UMLS:C1425733 Unspecified ABHD2 +OMIM:612196 skos:exactMatch HGNC:18717 Unspecified ABHD2 +OMIM:612196 skos:exactMatch HGNC_symbol:ABHD2 Unspecified ABHD2 +OMIM:612197 skos:exactMatch UMLS:C1425734 Unspecified ABHD3 +OMIM:612197 skos:exactMatch HGNC:18718 Unspecified ABHD3 +OMIM:612197 skos:exactMatch HGNC_symbol:ABHD3 Unspecified ABHD3 +OMIM:147791 skos:exactMatch ORPHA:2308 Unspecified jacobsen syndrome +OMIM:147791 skos:exactMatch UMLS:C0795841 Unspecified jacobsen syndrome +OMIM:612194 skos:exactMatch HGNC_symbol:RRAGA Unspecified RRAGA +OMIM:612194 skos:exactMatch HGNC:16963 Unspecified RRAGA +OMIM:612194 skos:exactMatch UMLS:C1335646 Unspecified RRAGA +OMIM:612195 skos:exactMatch UMLS:C1424994 Unspecified ABHD1 +OMIM:612195 skos:exactMatch HGNC_symbol:ABHD1 Unspecified ABHD1 +OMIM:612195 skos:exactMatch HGNC:17553 Unspecified ABHD1 +OMIM:147796 skos:exactMatch UMLS:C3281125 Unspecified JAK2 +OMIM:147796 skos:exactMatch UMLS:C3838644 Unspecified JAK2 +OMIM:147796 skos:exactMatch HGNC_symbol:JAK2 Unspecified JAK2 +OMIM:147796 skos:exactMatch UMLS:C3276960 Unspecified JAK2 +OMIM:147796 skos:exactMatch UMLS:C3276959 Unspecified JAK2 +OMIM:147796 skos:exactMatch UMLS:C1334291 Unspecified JAK2 +OMIM:147796 skos:exactMatch HGNC:6192 Unspecified JAK2 +OMIM:147796 skos:exactMatch UMLS:C4016233 Unspecified JAK2 +OMIM:147796 skos:exactMatch UMLS:C4016234 Unspecified JAK2 +OMIM:147796 skos:exactMatch UMLS:C2675103 Unspecified JAK2 +OMIM:147796 skos:exactMatch UMLS:C2675105 Unspecified JAK2 +OMIM:612192 skos:exactMatch HGNC:18791 Unspecified ZFP57 +OMIM:612192 skos:exactMatch UMLS:C1823951 Unspecified ZFP57 +OMIM:612192 skos:exactMatch HGNC_symbol:ZFP57 Unspecified ZFP57 +OMIM:612193 skos:exactMatch UMLS:C1422559 Unspecified CMYA5 +OMIM:612193 skos:exactMatch HGNC_symbol:CMYA5 Unspecified CMYA5 +OMIM:612193 skos:exactMatch HGNC:14305 Unspecified CMYA5 +OMIM:147795 skos:exactMatch UMLS:C5436572 Unspecified JAK1 +OMIM:147795 skos:exactMatch HGNC_symbol:JAK1 Unspecified JAK1 +OMIM:147795 skos:exactMatch UMLS:C1334290 Unspecified JAK1 +OMIM:147795 skos:exactMatch HGNC:6190 Unspecified JAK1 +OMIM:612190 skos:exactMatch UMLS:C2677317 Unspecified MLST8 +OMIM:612190 skos:exactMatch HGNC:24825 Unspecified MLST8 +OMIM:612190 skos:exactMatch HGNC_symbol:MLST8 Unspecified MLST8 +OMIM:612191 skos:exactMatch UMLS:C2677316 Unspecified MSMP +OMIM:612191 skos:exactMatch HGNC:29663 Unspecified MSMP +OMIM:612191 skos:exactMatch HGNC_symbol:MSMP Unspecified MSMP +OMIM:184745 skos:exactMatch UMLS:C1366480 Unspecified KITLG +OMIM:184745 skos:exactMatch HGNC:6343 Unspecified KITLG +OMIM:184745 skos:exactMatch HGNC_symbol:KITLG Unspecified KITLG +OMIM:255500 skos:exactMatch UMLS:C2749509 Unspecified myopia 18, autosomal recessive +OMIM:157130 skos:exactMatch HGNC:6839 Unspecified MAP2 +OMIM:157130 skos:exactMatch UMLS:C1417006 Unspecified MAP2 +OMIM:157130 skos:exactMatch HGNC_symbol:MAP2 Unspecified MAP2 +OMIM:600197 skos:exactMatch HGNC:6782 Unspecified MAFK +OMIM:600197 skos:exactMatch HGNC_symbol:MAFK Unspecified MAFK +OMIM:600197 skos:exactMatch UMLS:C1416968 Unspecified MAFK +OMIM:600195 skos:exactMatch ORPHA:2451 Unspecified venous malformations, multiple cutaneous and mucosal +OMIM:600195 skos:exactMatch UMLS:C1838437 Unspecified venous malformations, multiple cutaneous and mucosal +OMIM:157132 skos:exactMatch HGNC_symbol:MAP4 Unspecified MAP4 +OMIM:157132 skos:exactMatch HGNC:6862 Unspecified MAP4 +OMIM:157132 skos:exactMatch UMLS:C1417017 Unspecified MAP4 +OMIM:600194 skos:exactMatch HGNC:6439 Unspecified KRT2 +OMIM:600194 skos:exactMatch HGNC_symbol:KRT2 Unspecified KRT2 +OMIM:600194 skos:exactMatch UMLS:C1825741 Unspecified KRT2 +OMIM:160780 skos:exactMatch HGNC:7582 Unspecified MYL1 +OMIM:160780 skos:exactMatch HGNC_symbol:MYL1 Unspecified MYL1 +OMIM:160780 skos:exactMatch UMLS:C1417546 Unspecified MYL1 +OMIM:600193 skos:exactMatch UMLS:C1838447 Unspecified waardenburg syndrome, iia 2b +OMIM:600192 skos:exactMatch UMLS:C1846243 Unspecified SS18 +OMIM:600192 skos:exactMatch HGNC_symbol:SS18 Unspecified SS18 +OMIM:600192 skos:exactMatch UMLS:C1839329 Unspecified SS18 +OMIM:600192 skos:exactMatch HGNC:11340 Unspecified SS18 +OMIM:600192 skos:exactMatch UMLS:C1420439 Unspecified SS18 +OMIM:160781 skos:exactMatch HGNC:7583 Unspecified MYL2 +OMIM:160781 skos:exactMatch HGNC_symbol:MYL2 Unspecified MYL2 +OMIM:160781 skos:exactMatch UMLS:C1417547 Unspecified MYL2 +OMIM:160782 skos:exactMatch HGNC:7586 Unspecified MYL5 +OMIM:160782 skos:exactMatch HGNC_symbol:MYL5 Unspecified MYL5 +OMIM:160782 skos:exactMatch UMLS:C1417550 Unspecified MYL5 +OMIM:600190 skos:exactMatch HGNC_symbol:TLE3 Unspecified TLE3 +OMIM:600190 skos:exactMatch HGNC:11839 Unspecified TLE3 +OMIM:600190 skos:exactMatch UMLS:C1420754 Unspecified TLE3 +OMIM:612178 skos:exactMatch HGNC_symbol:HENMT1 Unspecified HENMT1 +OMIM:612178 skos:exactMatch UMLS:C1823206 Unspecified HENMT1 +OMIM:612178 skos:exactMatch HGNC:26400 Unspecified HENMT1 +OMIM:612179 skos:exactMatch UMLS:C1427936 Unspecified RN7SL2 +OMIM:612179 skos:exactMatch HGNC_symbol:RN7SL2 Unspecified RN7SL2 +OMIM:612179 skos:exactMatch HGNC:23134 Unspecified RN7SL2 +OMIM:612187 skos:exactMatch HGNC:26035 Unspecified None +OMIM:612187 skos:exactMatch UMLS:C2677318 Unspecified None +OMIM:612187 skos:exactMatch HGNC_symbol:SLC48A1 Unspecified None +OMIM:612188 skos:exactMatch HGNC:20593 Unspecified VPS39 +OMIM:612188 skos:exactMatch UMLS:C1427020 Unspecified VPS39 +OMIM:612188 skos:exactMatch HGNC_symbol:VPS39 Unspecified VPS39 +OMIM:612185 skos:exactMatch UMLS:C1425374 Unspecified CASKIN2 +OMIM:612185 skos:exactMatch HGNC_symbol:CASKIN2 Unspecified CASKIN2 +OMIM:612185 skos:exactMatch HGNC:18200 Unspecified CASKIN2 +OMIM:612186 skos:exactMatch UMLS:C4015261 Unspecified DMXL2 +OMIM:612186 skos:exactMatch UMLS:C5231450 Unspecified DMXL2 +OMIM:612186 skos:exactMatch UMLS:C4539881 Unspecified DMXL2 +OMIM:612186 skos:exactMatch UMLS:C1414090 Unspecified DMXL2 +OMIM:612186 skos:exactMatch HGNC_symbol:DMXL2 Unspecified DMXL2 +OMIM:612186 skos:exactMatch HGNC:2938 Unspecified DMXL2 +OMIM:612183 skos:exactMatch HGNC_symbol:GPR176 Unspecified GPR176 +OMIM:612183 skos:exactMatch UMLS:C1825409 Unspecified GPR176 +OMIM:612183 skos:exactMatch HGNC:32370 Unspecified GPR176 +OMIM:612184 skos:exactMatch HGNC:20879 Unspecified CASKIN1 +OMIM:612184 skos:exactMatch HGNC_symbol:CASKIN1 Unspecified CASKIN1 +OMIM:612184 skos:exactMatch UMLS:C1427185 Unspecified CASKIN1 +OMIM:170100 skos:exactMatch UMLS:C0268532 Unspecified prolidase deficiency +OMIM:612181 skos:exactMatch HGNC:7511 Unspecified MUC13 +OMIM:612181 skos:exactMatch UMLS:C1417493 Unspecified MUC13 +OMIM:612181 skos:exactMatch HGNC_symbol:MUC13 Unspecified MUC13 +OMIM:612182 skos:exactMatch HGNC:7646 Unspecified NAT2 +OMIM:612182 skos:exactMatch UMLS:C0796518 Unspecified NAT2 +OMIM:612182 skos:exactMatch HGNC_symbol:NAT2 Unspecified NAT2 +OMIM:612180 skos:exactMatch HGNC_symbol:RN7SL3 Unspecified RN7SL3 +OMIM:612180 skos:exactMatch HGNC:23135 Unspecified RN7SL3 +OMIM:612180 skos:exactMatch UMLS:C1427937 Unspecified RN7SL3 +OMIM:133171 skos:exactMatch HGNC_symbol:EPOR Unspecified EPOR +OMIM:133171 skos:exactMatch UMLS:C1333342 Unspecified EPOR +OMIM:133171 skos:exactMatch HGNC:3416 Unspecified EPOR +OMIM:133170 skos:exactMatch UMLS:C1366564 Unspecified EPO +OMIM:133170 skos:exactMatch HGNC_symbol:EPO Unspecified EPO +OMIM:133170 skos:exactMatch HGNC:3415 Unspecified EPO +OMIM:157140 skos:exactMatch UMLS:C1850077 Unspecified MAPT +OMIM:157140 skos:exactMatch UMLS:C4551863 Unspecified MAPT +OMIM:157140 skos:exactMatch HGNC:6893 Unspecified MAPT +OMIM:157140 skos:exactMatch UMLS:C3148775 Unspecified MAPT +OMIM:157140 skos:exactMatch UMLS:C0236642 Unspecified MAPT +OMIM:157140 skos:exactMatch HGNC_symbol:MAPT Unspecified MAPT +OMIM:157140 skos:exactMatch UMLS:C0338451 Unspecified MAPT +OMIM:157140 skos:exactMatch UMLS:C1446659 Unspecified MAPT +OMIM:600189 skos:exactMatch UMLS:C1420752 Unspecified TLE1 +OMIM:600189 skos:exactMatch UMLS:C2986382 Unspecified TLE1 +OMIM:600189 skos:exactMatch HGNC_symbol:TLE1 Unspecified TLE1 +OMIM:600189 skos:exactMatch HGNC:11837 Unspecified TLE1 +OMIM:600188 skos:exactMatch HGNC:307 Unspecified TLE5 +OMIM:600188 skos:exactMatch HGNC_symbol:TLE5 Unspecified TLE5 +OMIM:600188 skos:exactMatch UMLS:C1412268 Unspecified TLE5 +OMIM:160775 skos:exactMatch HGNC:7579 Unspecified MYH9 +OMIM:160775 skos:exactMatch UMLS:C1863659 Unspecified MYH9 +OMIM:160775 skos:exactMatch HGNC_symbol:MYH9 Unspecified MYH9 +OMIM:160775 skos:exactMatch UMLS:C1417544 Unspecified MYH9 +OMIM:160775 skos:exactMatch UMLS:C4693968 Unspecified MYH9 +OMIM:160775 skos:exactMatch UMLS:C4693969 Unspecified MYH9 +OMIM:160775 skos:exactMatch UMLS:C4693970 Unspecified MYH9 +OMIM:160775 skos:exactMatch UMLS:C5200934 Unspecified MYH9 +OMIM:160770 skos:exactMatch HGNC:7585 Unspecified MYL4 +OMIM:160770 skos:exactMatch HGNC_symbol:MYL4 Unspecified MYL4 +OMIM:160770 skos:exactMatch UMLS:C1417549 Unspecified MYL4 +OMIM:157129 skos:exactMatch UMLS:C5394503 Unspecified MAP1B +OMIM:157129 skos:exactMatch HGNC:6836 Unspecified MAP1B +OMIM:157129 skos:exactMatch UMLS:C1417004 Unspecified MAP1B +OMIM:157129 skos:exactMatch HGNC_symbol:MAP1B Unspecified MAP1B +OMIM:612169 skos:exactMatch HGNC:15626 Unspecified FCGR2C +OMIM:612169 skos:exactMatch UMLS:C1521989 Unspecified FCGR2C +OMIM:612169 skos:exactMatch HGNC_symbol:FCGR2C Unspecified FCGR2C +OMIM:612167 skos:exactMatch HGNC:30914 Unspecified WDR48 +OMIM:612167 skos:exactMatch UMLS:C1538092 Unspecified WDR48 +OMIM:612167 skos:exactMatch HGNC_symbol:WDR48 Unspecified WDR48 +OMIM:612168 skos:exactMatch HGNC:17128 Unspecified SLC39A3 +OMIM:612168 skos:exactMatch UMLS:C1424764 Unspecified SLC39A3 +OMIM:612168 skos:exactMatch HGNC_symbol:SLC39A3 Unspecified SLC39A3 +OMIM:243500 skos:exactMatch UMLS:C0268575 Unspecified isovaleric acidemia +OMIM:612176 skos:exactMatch HGNC:29401 Unspecified MYSM1 +OMIM:612176 skos:exactMatch HGNC_symbol:MYSM1 Unspecified MYSM1 +OMIM:612176 skos:exactMatch UMLS:C1826336 Unspecified MYSM1 +OMIM:231530 skos:exactMatch UMLS:C1291230 Unspecified 3-hydroxyacyl-coa dehydrogenase deficiency +OMIM:612177 skos:exactMatch HGNC_symbol:RN7SL1 Unspecified RN7SL1 +OMIM:612177 skos:exactMatch UMLS:C1419401 Unspecified RN7SL1 +OMIM:612177 skos:exactMatch HGNC:10038 Unspecified RN7SL1 +OMIM:612174 skos:exactMatch HGNC_symbol:CAB39 Unspecified CAB39 +OMIM:612174 skos:exactMatch UMLS:C1538427 Unspecified CAB39 +OMIM:612174 skos:exactMatch HGNC:20292 Unspecified CAB39 +OMIM:169100 skos:exactMatch UMLS:C1868570 Unspecified char syndrome +OMIM:612175 skos:exactMatch HGNC:20290 Unspecified CAB39L +OMIM:612175 skos:exactMatch HGNC_symbol:CAB39L Unspecified CAB39L +OMIM:612175 skos:exactMatch UMLS:C1538428 Unspecified CAB39L +OMIM:612172 skos:exactMatch UMLS:C1424920 Unspecified DDX23 +OMIM:612172 skos:exactMatch HGNC:17347 Unspecified DDX23 +OMIM:612172 skos:exactMatch HGNC_symbol:DDX23 Unspecified DDX23 +OMIM:612173 skos:exactMatch HGNC:23225 Unspecified SPAG16 +OMIM:612173 skos:exactMatch UMLS:C1539808 Unspecified SPAG16 +OMIM:612173 skos:exactMatch HGNC_symbol:SPAG16 Unspecified SPAG16 +OMIM:612170 skos:exactMatch HGNC_symbol:MUC19 Unspecified MUC19 +OMIM:612170 skos:exactMatch HGNC:14362 Unspecified MUC19 +OMIM:612170 skos:exactMatch UMLS:C1422594 Unspecified MUC19 +OMIM:612171 skos:exactMatch HGNC:24201 Unspecified RPRM +OMIM:612171 skos:exactMatch HGNC_symbol:RPRM Unspecified RPRM +OMIM:612171 skos:exactMatch UMLS:C1539685 Unspecified RPRM +OMIM:160776 skos:exactMatch UMLS:C2986382 Unspecified MYH10 +OMIM:160776 skos:exactMatch HGNC:7568 Unspecified MYH10 +OMIM:160776 skos:exactMatch UMLS:C1417535 Unspecified MYH10 +OMIM:160776 skos:exactMatch HGNC_symbol:MYH10 Unspecified MYH10 +OMIM:160777 skos:exactMatch HGNC_symbol:MYO5A Unspecified MYO5A +OMIM:160777 skos:exactMatch HGNC:7602 Unspecified MYO5A +OMIM:160777 skos:exactMatch UMLS:C1417565 Unspecified MYO5A +OMIM:133180 skos:exactMatch UMLS:C4746575 Unspecified erythroleukemia, familial, susceptibility to +OMIM:410000 skos:exactMatch HGNC:462 Unspecified AMELY +OMIM:410000 skos:exactMatch UMLS:C1412383 Unspecified AMELY +OMIM:410000 skos:exactMatch HGNC_symbol:AMELY Unspecified AMELY +OMIM:172425 skos:exactMatch HGNC_symbol:PLTP Unspecified PLTP +OMIM:172425 skos:exactMatch UMLS:C1969386 Unspecified PLTP +OMIM:172425 skos:exactMatch HGNC:9093 Unspecified PLTP +OMIM:172425 skos:exactMatch UMLS:C1455838 Unspecified PLTP +OMIM:147470 skos:exactMatch UMLS:C4016224 Unspecified IGF2 +OMIM:147470 skos:exactMatch HGNC:5466 Unspecified IGF2 +OMIM:147470 skos:exactMatch UMLS:C4225307 Unspecified IGF2 +OMIM:147470 skos:exactMatch UMLS:C1334091 Unspecified IGF2 +OMIM:147470 skos:exactMatch HGNC_symbol:IGF2 Unspecified IGF2 +OMIM:172420 skos:exactMatch UMLS:C1418640 Unspecified PLCG1 +OMIM:172420 skos:exactMatch HGNC:9065 Unspecified PLCG1 +OMIM:172420 skos:exactMatch HGNC_symbol:PLCG1 Unspecified PLCG1 +OMIM:159460 skos:exactMatch HGNC:6783 Unspecified MAG +OMIM:159460 skos:exactMatch UMLS:C1416969 Unspecified MAG +OMIM:159460 skos:exactMatch HGNC_symbol:MAG Unspecified MAG +OMIM:184420 skos:exactMatch HGNC:3629 Unspecified FDFT1 +OMIM:184420 skos:exactMatch UMLS:C1414563 Unspecified FDFT1 +OMIM:184420 skos:exactMatch HGNC_symbol:FDFT1 Unspecified FDFT1 +OMIM:159440 skos:exactMatch HGNC_symbol:MPZ Unspecified MPZ +OMIM:159440 skos:exactMatch HGNC:7225 Unspecified MPZ +OMIM:159440 skos:exactMatch UMLS:C1417248 Unspecified MPZ +OMIM:245900 skos:exactMatch UMLS:C0023195 Unspecified lecithin:cholesterol acyltransferase deficiency +OMIM:147480 skos:exactMatch UMLS:C3549845 Unspecified cholestasis, intrahepatic, of pregnancy, 1 +OMIM:172411 skos:exactMatch HGNC:9031 Unspecified PLA2G2A +OMIM:172411 skos:exactMatch UMLS:C1335221 Unspecified PLA2G2A +OMIM:172411 skos:exactMatch HGNC_symbol:PLA2G2A Unspecified PLA2G2A +OMIM:172410 skos:exactMatch UMLS:C1418617 Unspecified PLA2G1B +OMIM:172410 skos:exactMatch HGNC:9030 Unspecified PLA2G1B +OMIM:172410 skos:exactMatch HGNC_symbol:PLA2G1B Unspecified PLA2G1B +OMIM:184429 skos:exactMatch HGNC:11195 Unspecified SOX2 +OMIM:184429 skos:exactMatch UMLS:C1420322 Unspecified SOX2 +OMIM:184429 skos:exactMatch UMLS:C1859774 Unspecified SOX2 +OMIM:184429 skos:exactMatch UMLS:C1859773 Unspecified SOX2 +OMIM:184429 skos:exactMatch HGNC_symbol:SOX2 Unspecified SOX2 +OMIM:206300 skos:exactMatch UMLS:C1859786 Unspecified anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane +OMIM:147485 skos:exactMatch UMLS:C1416469 Unspecified IPP +OMIM:147485 skos:exactMatch HGNC_symbol:IPP Unspecified IPP +OMIM:147485 skos:exactMatch HGNC:6108 Unspecified IPP +OMIM:218300 skos:exactMatch UMLS:C0410539 Unspecified craniodiaphyseal dysplasia +OMIM:159465 skos:exactMatch UMLS:C1417228 Unspecified MOG +OMIM:159465 skos:exactMatch HGNC:7197 Unspecified MOG +OMIM:159465 skos:exactMatch HGNC_symbol:MOG Unspecified MOG +OMIM:184400 skos:exactMatch UMLS:C0152438 Unspecified sprengel deformity +OMIM:172439 skos:exactMatch UMLS:C1418256 Unspecified PAICS +OMIM:172439 skos:exactMatch HGNC_symbol:PAICS Unspecified PAICS +OMIM:172439 skos:exactMatch HGNC:8587 Unspecified PAICS +OMIM:172430 skos:exactMatch HGNC:3350 Unspecified ENO1 +OMIM:172430 skos:exactMatch HGNC_symbol:ENO1 Unspecified ENO1 +OMIM:172430 skos:exactMatch UMLS:C1414402 Unspecified ENO1 +OMIM:233910 skos:exactMatch UMLS:C2673535 Unspecified hyperphenylalaninemia, bh4-deficient, B +OMIM:233910 skos:exactMatch UMLS:C0268467 Unspecified hyperphenylalaninemia, bh4-deficient, B +OMIM:184450 skos:exactMatch UMLS:C3489627 Unspecified stuttering, familial persistent, 1 +OMIM:208900 skos:exactMatch UMLS:C0004135 Unspecified ataxia-telangiectasia +OMIM:208900 skos:exactMatch ORPHA:100 Unspecified ataxia-telangiectasia +OMIM:123450 skos:exactMatch UMLS:C0010314 Unspecified cri-du-chat syndrome +OMIM:123450 skos:exactMatch ORPHA:281 Unspecified cri-du-chat syndrome +OMIM:172460 skos:exactMatch UMLS:C4540670 Unspecified MTHFD1 +OMIM:172460 skos:exactMatch UMLS:C4540543 Unspecified MTHFD1 +OMIM:172460 skos:exactMatch HGNC:7432 Unspecified MTHFD1 +OMIM:172460 skos:exactMatch UMLS:C4016262 Unspecified MTHFD1 +OMIM:172460 skos:exactMatch UMLS:C4016322 Unspecified MTHFD1 +OMIM:172460 skos:exactMatch UMLS:C1417420 Unspecified MTHFD1 +OMIM:172460 skos:exactMatch HGNC_symbol:MTHFD1 Unspecified MTHFD1 +OMIM:184460 skos:exactMatch UMLS:C1866656 Unspecified stapes ankylosis with broad thumbs and toes +OMIM:172450 skos:exactMatch HGNC:9238 Unspecified PPAT +OMIM:172450 skos:exactMatch UMLS:C1418780 Unspecified PPAT +OMIM:172450 skos:exactMatch HGNC_symbol:PPAT Unspecified PPAT +OMIM:208910 skos:exactMatch UMLS:C1859615 Unspecified ataxia-telangiectasia with generalized skin pigmentation and early death +OMIM:184430 skos:exactMatch UMLS:C1420327 Unspecified SOX4 +OMIM:184430 skos:exactMatch HGNC_symbol:SOX4 Unspecified SOX4 +OMIM:184430 skos:exactMatch UMLS:C4760583 Unspecified SOX4 +OMIM:184430 skos:exactMatch HGNC:11200 Unspecified SOX4 +OMIM:221900 skos:exactMatch UMLS:C1857299 Unspecified persistent hyperplastic primary vitreous, autosomal recessive +OMIM:221900 skos:exactMatch UMLS:C1969783 Unspecified persistent hyperplastic primary vitreous, autosomal recessive +OMIM:208920 skos:exactMatch UMLS:C1859598 Unspecified ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +OMIM:172480 skos:exactMatch UMLS:C1419048 Unspecified PSPH +OMIM:172480 skos:exactMatch HGNC_symbol:PSPH Unspecified PSPH +OMIM:172480 skos:exactMatch HGNC:9577 Unspecified PSPH +OMIM:172471 skos:exactMatch HGNC:8931 Unspecified PHKG2 +OMIM:172471 skos:exactMatch UMLS:C1418538 Unspecified PHKG2 +OMIM:172471 skos:exactMatch HGNC_symbol:PHKG2 Unspecified PHKG2 +OMIM:172470 skos:exactMatch HGNC:8930 Unspecified PHKG1 +OMIM:172470 skos:exactMatch UMLS:C1418537 Unspecified PHKG1 +OMIM:172470 skos:exactMatch HGNC_symbol:PHKG1 Unspecified PHKG1 +OMIM:602910 skos:exactMatch UMLS:C1413473 Unspecified CLDN3 +OMIM:602910 skos:exactMatch HGNC_symbol:CLDN3 Unspecified CLDN3 +OMIM:602910 skos:exactMatch HGNC:2045 Unspecified CLDN3 +OMIM:602911 skos:exactMatch HGNC:1406 Unspecified CACNG2 +OMIM:602911 skos:exactMatch HGNC_symbol:CACNG2 Unspecified CACNG2 +OMIM:602911 skos:exactMatch UMLS:C1413072 Unspecified CACNG2 +OMIM:602912 skos:exactMatch HGNC:6159 Unspecified EIF6 +OMIM:602912 skos:exactMatch UMLS:C1416500 Unspecified EIF6 +OMIM:602912 skos:exactMatch HGNC_symbol:EIF6 Unspecified EIF6 +OMIM:602913 skos:exactMatch UMLS:C1413549 Unspecified PLK3 +OMIM:602913 skos:exactMatch HGNC_symbol:PLK3 Unspecified PLK3 +OMIM:602913 skos:exactMatch HGNC:2154 Unspecified PLK3 +OMIM:602914 skos:exactMatch HGNC:643 Unspecified AQP9 +OMIM:602914 skos:exactMatch UMLS:C1412499 Unspecified AQP9 +OMIM:602914 skos:exactMatch HGNC_symbol:AQP9 Unspecified AQP9 +OMIM:602915 skos:exactMatch HGNC:12790 Unspecified GET1 +OMIM:602915 skos:exactMatch HGNC_symbol:GET1 Unspecified GET1 +OMIM:602915 skos:exactMatch UMLS:C1421520 Unspecified GET1 +OMIM:602916 skos:exactMatch HGNC_symbol:UBE2E1 Unspecified UBE2E1 +OMIM:602916 skos:exactMatch HGNC:12477 Unspecified UBE2E1 +OMIM:602916 skos:exactMatch UMLS:C1421276 Unspecified UBE2E1 +OMIM:602917 skos:exactMatch UMLS:C1414160 Unspecified RCAN1 +OMIM:602917 skos:exactMatch HGNC:3040 Unspecified RCAN1 +OMIM:602917 skos:exactMatch HGNC_symbol:RCAN1 Unspecified RCAN1 +OMIM:602918 skos:exactMatch HGNC:3592 Unspecified FARSA +OMIM:602918 skos:exactMatch HGNC_symbol:FARSA Unspecified FARSA +OMIM:602918 skos:exactMatch UMLS:C1414534 Unspecified FARSA +OMIM:602918 skos:exactMatch UMLS:C5436603 Unspecified FARSA +OMIM:602919 skos:exactMatch HGNC:2990 Unspecified DOK1 +OMIM:602919 skos:exactMatch HGNC_symbol:DOK1 Unspecified DOK1 +OMIM:602919 skos:exactMatch UMLS:C1333246 Unspecified DOK1 +OMIM:602900 skos:exactMatch HGNC:2979 Unspecified DNMT3B +OMIM:602900 skos:exactMatch UMLS:C1333242 Unspecified DNMT3B +OMIM:602900 skos:exactMatch HGNC_symbol:DNMT3B Unspecified DNMT3B +OMIM:602901 skos:exactMatch UMLS:C1416706 Unspecified TNPO1 +OMIM:602901 skos:exactMatch HGNC:6401 Unspecified TNPO1 +OMIM:602901 skos:exactMatch HGNC_symbol:TNPO1 Unspecified TNPO1 +OMIM:602902 skos:exactMatch HGNC:1123 Unspecified KLF9 +OMIM:602902 skos:exactMatch HGNC_symbol:KLF9 Unspecified KLF9 +OMIM:602902 skos:exactMatch UMLS:C1537487 Unspecified KLF9 +OMIM:602903 skos:exactMatch UMLS:C1416661 Unspecified KLF5 +OMIM:602903 skos:exactMatch HGNC_symbol:KLF5 Unspecified KLF5 +OMIM:602903 skos:exactMatch HGNC:6349 Unspecified KLF5 +OMIM:602904 skos:exactMatch HGNC_symbol:MAPK6 Unspecified MAPK6 +OMIM:602904 skos:exactMatch UMLS:C1334480 Unspecified MAPK6 +OMIM:602904 skos:exactMatch HGNC:6879 Unspecified MAPK6 +OMIM:602905 skos:exactMatch UMLS:C1416618 Unspecified KCNS1 +OMIM:602905 skos:exactMatch HGNC_symbol:KCNS1 Unspecified KCNS1 +OMIM:602905 skos:exactMatch HGNC:6300 Unspecified KCNS1 +OMIM:602906 skos:exactMatch UMLS:C1416619 Unspecified KCNS2 +OMIM:602906 skos:exactMatch HGNC_symbol:KCNS2 Unspecified KCNS2 +OMIM:602906 skos:exactMatch HGNC:6301 Unspecified KCNS2 +OMIM:602907 skos:exactMatch HGNC:1868 Unspecified CETN3 +OMIM:602907 skos:exactMatch UMLS:C1413352 Unspecified CETN3 +OMIM:602907 skos:exactMatch HGNC_symbol:CETN3 Unspecified CETN3 +OMIM:602908 skos:exactMatch HGNC_symbol:RBBP9 Unspecified RBBP9 +OMIM:602908 skos:exactMatch HGNC:9892 Unspecified RBBP9 +OMIM:602908 skos:exactMatch UMLS:C1419294 Unspecified RBBP9 +OMIM:602909 skos:exactMatch HGNC:2046 Unspecified CLDN4 +OMIM:602909 skos:exactMatch UMLS:C1413474 Unspecified CLDN4 +OMIM:602909 skos:exactMatch HGNC_symbol:CLDN4 Unspecified CLDN4 +OMIM:123400 skos:exactMatch UMLS:C0022336 Unspecified creutzfeldt-jakob disease +OMIM:123400 skos:exactMatch UMLS:C1969957 Unspecified creutzfeldt-jakob disease +OMIM:123400 skos:exactMatch UMLS:C1852467 Unspecified creutzfeldt-jakob disease +OMIM:123400 skos:exactMatch UMLS:C0376329 Unspecified creutzfeldt-jakob disease +OMIM:172490 skos:exactMatch HGNC_symbol:PHKB Unspecified PHKB +OMIM:172490 skos:exactMatch UMLS:C1418534 Unspecified PHKB +OMIM:172490 skos:exactMatch HGNC:8927 Unspecified PHKB +OMIM:184470 skos:exactMatch HGNC:11369 Unspecified STATH +OMIM:184470 skos:exactMatch UMLS:C1420455 Unspecified STATH +OMIM:184470 skos:exactMatch HGNC_symbol:STATH Unspecified STATH +OMIM:111400 skos:exactMatch UMLS:C3549485 Unspecified blood group, p1pk system +OMIM:602950 skos:exactMatch UMLS:C1826697 Unspecified PRMT1 +OMIM:602950 skos:exactMatch HGNC_symbol:PRMT1 Unspecified PRMT1 +OMIM:602950 skos:exactMatch HGNC:5187 Unspecified PRMT1 +OMIM:602951 skos:exactMatch HGNC:12863 Unspecified ZFP37 +OMIM:602951 skos:exactMatch UMLS:C1421572 Unspecified ZFP37 +OMIM:602951 skos:exactMatch HGNC_symbol:ZFP37 Unspecified ZFP37 +OMIM:602952 skos:exactMatch HGNC:12766 Unspecified NSD2 +OMIM:602952 skos:exactMatch UMLS:C1421505 Unspecified NSD2 +OMIM:602952 skos:exactMatch HGNC_symbol:NSD2 Unspecified NSD2 +OMIM:602953 skos:exactMatch HGNC_symbol:HEY1 Unspecified HEY1 +OMIM:602953 skos:exactMatch HGNC:4880 Unspecified HEY1 +OMIM:602953 skos:exactMatch UMLS:C1415524 Unspecified HEY1 +OMIM:614939 skos:exactMatch HGNC_symbol:PGAM5 Unspecified PGAM5 +OMIM:614939 skos:exactMatch UMLS:C1826571 Unspecified PGAM5 +OMIM:614939 skos:exactMatch HGNC:28763 Unspecified PGAM5 +OMIM:602954 skos:exactMatch UMLS:C1419242 Unspecified RAD51D +OMIM:602954 skos:exactMatch HGNC_symbol:RAD51D Unspecified RAD51D +OMIM:602954 skos:exactMatch HGNC:9823 Unspecified RAD51D +OMIM:614938 skos:exactMatch HGNC_symbol:VTRNA2-1 Unspecified VTRNA2-1 +OMIM:614938 skos:exactMatch UMLS:C2681113 Unspecified VTRNA2-1 +OMIM:614938 skos:exactMatch HGNC:37054 Unspecified VTRNA2-1 +OMIM:602955 skos:exactMatch HGNC:11540 Unspecified TAF6 +OMIM:602955 skos:exactMatch HGNC_symbol:TAF6 Unspecified TAF6 +OMIM:602955 skos:exactMatch UMLS:C1336569 Unspecified TAF6 +OMIM:614937 skos:exactMatch UMLS:C3539916 Unspecified myoclonus, familial, 1 +OMIM:602956 skos:exactMatch UMLS:C1333532 Unspecified FANCG +OMIM:602956 skos:exactMatch HGNC_symbol:FANCG Unspecified FANCG +OMIM:602956 skos:exactMatch HGNC:3588 Unspecified FANCG +OMIM:614936 skos:exactMatch UMLS:C3554145 Unspecified palmoplantar keratoderma, punctate iia 1b +OMIM:614935 skos:exactMatch UMLS:C3543826 Unspecified ciliary dyskinesia, primary, 19 +OMIM:602957 skos:exactMatch HGNC_symbol:CCL22 Unspecified CCL22 +OMIM:602957 skos:exactMatch UMLS:C1332685 Unspecified CCL22 +OMIM:602957 skos:exactMatch HGNC:10621 Unspecified CCL22 +OMIM:602958 skos:exactMatch UMLS:C1420010 Unspecified SGK1 +OMIM:602958 skos:exactMatch HGNC:10810 Unspecified SGK1 +OMIM:602958 skos:exactMatch HGNC_symbol:SGK1 Unspecified SGK1 +OMIM:614934 skos:exactMatch UMLS:C1824925 Unspecified deafness, autosomal recessive 70 +OMIM:602959 skos:exactMatch UMLS:C4225343 Unspecified EEF1A2 +OMIM:602959 skos:exactMatch UMLS:C4225337 Unspecified EEF1A2 +OMIM:602959 skos:exactMatch HGNC:3192 Unspecified EEF1A2 +OMIM:602959 skos:exactMatch HGNC_symbol:EEF1A2 Unspecified EEF1A2 +OMIM:602959 skos:exactMatch UMLS:C1414273 Unspecified EEF1A2 +OMIM:614933 skos:exactMatch HGNC:49089 Unspecified LINCMD1 +OMIM:614933 skos:exactMatch UMLS:C3554140 Unspecified LINCMD1 +OMIM:614933 skos:exactMatch HGNC_symbol:LINCMD1 Unspecified LINCMD1 +OMIM:614932 skos:exactMatch UMLS:C3554129 Unspecified combined oxidative phosphorylation deficiency 13 +OMIM:614931 skos:exactMatch UMLS:C3554127 Unspecified ectodermal dysplasia 9, hair/nail iia +OMIM:614930 skos:exactMatch UMLS:C1537595 Unspecified LRRC6 +OMIM:614930 skos:exactMatch HGNC:16725 Unspecified LRRC6 +OMIM:614930 skos:exactMatch HGNC_symbol:DNAAF11 Unspecified LRRC6 +OMIM:602940 skos:exactMatch UMLS:C1537665 Unspecified MARCKSL1 +OMIM:602940 skos:exactMatch HGNC_symbol:MARCKSL1 Unspecified MARCKSL1 +OMIM:602940 skos:exactMatch HGNC:7142 Unspecified MARCKSL1 +OMIM:602941 skos:exactMatch HGNC_symbol:BCAR1 Unspecified BCAR1 +OMIM:602941 skos:exactMatch UMLS:C1366459 Unspecified BCAR1 +OMIM:602941 skos:exactMatch HGNC:971 Unspecified BCAR1 +OMIM:614929 skos:exactMatch UMLS:C3554117 Unspecified ectodermal dysplasia 7, hair/nail iia +OMIM:614928 skos:exactMatch UMLS:C3554111 Unspecified ectodermal dysplasia 6, hair/nail iia +OMIM:602942 skos:exactMatch HGNC:3501 Unspecified EVI5 +OMIM:602942 skos:exactMatch UMLS:C1414481 Unspecified EVI5 +OMIM:602942 skos:exactMatch HGNC_symbol:EVI5 Unspecified EVI5 +OMIM:602943 skos:exactMatch HGNC_symbol:RORC Unspecified RORC +OMIM:602943 skos:exactMatch UMLS:C1419603 Unspecified RORC +OMIM:602943 skos:exactMatch HGNC:10260 Unspecified RORC +OMIM:602943 skos:exactMatch UMLS:C4225266 Unspecified RORC +OMIM:614927 skos:exactMatch UMLS:C3554108 Unspecified ectodermal dysplasia 5, hair/nail iia +OMIM:602944 skos:exactMatch HGNC:3120 Unspecified E2F6 +OMIM:602944 skos:exactMatch UMLS:C1414229 Unspecified E2F6 +OMIM:602944 skos:exactMatch HGNC_symbol:E2F6 Unspecified E2F6 +OMIM:614926 skos:exactMatch ORPHA:2855 Unspecified perrault syndrome 2 +OMIM:614926 skos:exactMatch UMLS:C3554105 Unspecified perrault syndrome 2 +OMIM:614925 skos:exactMatch HGNC_symbol:OTOGL Unspecified OTOGL +OMIM:614925 skos:exactMatch HGNC:26901 Unspecified OTOGL +OMIM:614925 skos:exactMatch UMLS:C2240302 Unspecified OTOGL +OMIM:602945 skos:exactMatch HGNC_symbol:TADA3 Unspecified TADA3 +OMIM:602945 skos:exactMatch HGNC:19422 Unspecified TADA3 +OMIM:602945 skos:exactMatch UMLS:C1426233 Unspecified TADA3 +OMIM:614924 skos:exactMatch UMLS:C3554079 Unspecified combined oxidative phosphorylation deficiency 12 +OMIM:602946 skos:exactMatch UMLS:C1424889 Unspecified TAF6L +OMIM:602946 skos:exactMatch HGNC_symbol:TAF6L Unspecified TAF6L +OMIM:602946 skos:exactMatch HGNC:17305 Unspecified TAF6L +OMIM:614923 skos:exactMatch UMLS:C3554078 Unspecified branched-chain keto acid dehydrogenase kinase deficiency +OMIM:602947 skos:exactMatch HGNC:11466 Unspecified SUPT3H +OMIM:602947 skos:exactMatch UMLS:C0812266 Unspecified SUPT3H +OMIM:602947 skos:exactMatch HGNC_symbol:SUPT3H Unspecified SUPT3H +OMIM:602948 skos:exactMatch HGNC:9822 Unspecified RAD51B +OMIM:602948 skos:exactMatch UMLS:C3484353 Unspecified RAD51B +OMIM:602948 skos:exactMatch UMLS:C1419241 Unspecified RAD51B +OMIM:602948 skos:exactMatch HGNC_symbol:RAD51B Unspecified RAD51B +OMIM:614922 skos:exactMatch UMLS:C3554067 Unspecified combined oxidative phosphorylation deficiency 11 +OMIM:602949 skos:exactMatch UMLS:C1419813 Unspecified SAP18 +OMIM:602949 skos:exactMatch HGNC:10530 Unspecified SAP18 +OMIM:602949 skos:exactMatch HGNC_symbol:SAP18 Unspecified SAP18 +OMIM:614921 skos:exactMatch ORPHA:319646 Unspecified congenital disorder of glycosylation, iia it +OMIM:614921 skos:exactMatch UMLS:C2752015 Unspecified congenital disorder of glycosylation, iia it +OMIM:614920 skos:exactMatch ORPHA:772 Unspecified peroxisome biogenesis disorder 14b +OMIM:614920 skos:exactMatch UMLS:C3554055 Unspecified peroxisome biogenesis disorder 14b +OMIM:614920 skos:exactMatch ORPHA:44 Unspecified peroxisome biogenesis disorder 14b +OMIM:614919 skos:exactMatch UMLS:C1428713 Unspecified NOA1 +OMIM:614919 skos:exactMatch HGNC_symbol:NOA1 Unspecified NOA1 +OMIM:614919 skos:exactMatch HGNC:28473 Unspecified NOA1 +OMIM:602930 skos:exactMatch HGNC:12820 Unspecified REXO4 +OMIM:602930 skos:exactMatch UMLS:C1826806 Unspecified REXO4 +OMIM:602930 skos:exactMatch HGNC_symbol:REXO4 Unspecified REXO4 +OMIM:614918 skos:exactMatch HGNC_symbol:PTCD3 Unspecified PTCD3 +OMIM:614918 skos:exactMatch HGNC:24717 Unspecified PTCD3 +OMIM:614918 skos:exactMatch UMLS:C1826731 Unspecified PTCD3 +OMIM:614918 skos:exactMatch UMLS:C5436703 Unspecified PTCD3 +OMIM:602931 skos:exactMatch UMLS:C1334469 Unspecified SMAD6 +OMIM:602931 skos:exactMatch HGNC:6772 Unspecified SMAD6 +OMIM:602931 skos:exactMatch UMLS:C4479677 Unspecified SMAD6 +OMIM:602931 skos:exactMatch UMLS:C3542024 Unspecified SMAD6 +OMIM:602931 skos:exactMatch UMLS:C5241445 Unspecified SMAD6 +OMIM:602931 skos:exactMatch HGNC_symbol:SMAD6 Unspecified SMAD6 +OMIM:614917 skos:exactMatch UMLS:C1826833 Unspecified RMND1 +OMIM:614917 skos:exactMatch HGNC:21176 Unspecified RMND1 +OMIM:614917 skos:exactMatch HGNC_symbol:RMND1 Unspecified RMND1 +OMIM:602932 skos:exactMatch UMLS:C2677123 Unspecified SMAD7 +OMIM:602932 skos:exactMatch UMLS:C1334470 Unspecified SMAD7 +OMIM:602932 skos:exactMatch HGNC:6773 Unspecified SMAD7 +OMIM:602932 skos:exactMatch HGNC_symbol:SMAD7 Unspecified SMAD7 +OMIM:614916 skos:exactMatch UMLS:C3554047 Unspecified ventricular tachycardia, catecholaminergic polymorphic, 4 +OMIM:602933 skos:exactMatch HGNC:12311 Unspecified TRIP6 +OMIM:602933 skos:exactMatch UMLS:C1421151 Unspecified TRIP6 +OMIM:602933 skos:exactMatch HGNC_symbol:TRIP6 Unspecified TRIP6 +OMIM:614915 skos:exactMatch UMLS:C3554046 Unspecified lethal congenital contracture syndrome 4 +OMIM:614914 skos:exactMatch UMLS:C2239691 Unspecified MIR298 +OMIM:614914 skos:exactMatch HGNC_symbol:MIR298 Unspecified MIR298 +OMIM:614914 skos:exactMatch HGNC:33634 Unspecified MIR298 +OMIM:602934 skos:exactMatch UMLS:C1419904 Unspecified SDF2 +OMIM:602934 skos:exactMatch HGNC:10675 Unspecified SDF2 +OMIM:602934 skos:exactMatch HGNC_symbol:SDF2 Unspecified SDF2 +OMIM:614913 skos:exactMatch UMLS:C3543894 Unspecified TRABD2B +OMIM:614913 skos:exactMatch HGNC_symbol:TRABD2B Unspecified TRABD2B +OMIM:614913 skos:exactMatch HGNC:44200 Unspecified TRABD2B +OMIM:602935 skos:exactMatch HGNC_symbol:FAAH Unspecified FAAH +OMIM:602935 skos:exactMatch HGNC:3553 Unspecified FAAH +OMIM:602935 skos:exactMatch UMLS:C1414512 Unspecified FAAH +OMIM:614912 skos:exactMatch UMLS:C3543895 Unspecified TRABD2A +OMIM:614912 skos:exactMatch HGNC_symbol:TRABD2A Unspecified TRABD2A +OMIM:614912 skos:exactMatch HGNC:27013 Unspecified TRABD2A +OMIM:602937 skos:exactMatch HGNC:1987 Unspecified CITED2 +OMIM:602937 skos:exactMatch UMLS:C1413430 Unspecified CITED2 +OMIM:602937 skos:exactMatch HGNC_symbol:CITED2 Unspecified CITED2 +OMIM:614911 skos:exactMatch HGNC:14346 Unspecified C1QTNF4 +OMIM:614911 skos:exactMatch UMLS:C1422582 Unspecified C1QTNF4 +OMIM:614911 skos:exactMatch HGNC_symbol:C1QTNF4 Unspecified C1QTNF4 +OMIM:614910 skos:exactMatch HGNC:14343 Unspecified C1QTNF6 +OMIM:614910 skos:exactMatch UMLS:C1422580 Unspecified C1QTNF6 +OMIM:614910 skos:exactMatch HGNC_symbol:C1QTNF6 Unspecified C1QTNF6 +OMIM:602938 skos:exactMatch UMLS:C1412726 Unspecified BAAT +OMIM:602938 skos:exactMatch HGNC:932 Unspecified BAAT +OMIM:602938 skos:exactMatch HGNC_symbol:BAAT Unspecified BAAT +OMIM:602939 skos:exactMatch UMLS:C1414632 Unspecified FOXS1 +OMIM:602939 skos:exactMatch HGNC_symbol:FOXS1 Unspecified FOXS1 +OMIM:602939 skos:exactMatch HGNC:3735 Unspecified FOXS1 +OMIM:614909 skos:exactMatch HGNC:28187 Unspecified TMEM174 +OMIM:614909 skos:exactMatch UMLS:C1823438 Unspecified TMEM174 +OMIM:614909 skos:exactMatch HGNC_symbol:TMEM174 Unspecified TMEM174 +OMIM:614908 skos:exactMatch UMLS:C1824339 Unspecified HIKESHI +OMIM:614908 skos:exactMatch HGNC:26938 Unspecified HIKESHI +OMIM:614908 skos:exactMatch HGNC_symbol:HIKESHI Unspecified HIKESHI +OMIM:614907 skos:exactMatch HGNC:20314 Unspecified PRPF39 +OMIM:614907 skos:exactMatch UMLS:C1426852 Unspecified PRPF39 +OMIM:614907 skos:exactMatch HGNC_symbol:PRPF39 Unspecified PRPF39 +OMIM:602920 skos:exactMatch HGNC:6513 Unspecified LASP1 +OMIM:602920 skos:exactMatch HGNC_symbol:LASP1 Unspecified LASP1 +OMIM:602920 skos:exactMatch UMLS:C1416800 Unspecified LASP1 +OMIM:602920 skos:exactMatch UMLS:C1864339 Unspecified LASP1 +OMIM:614906 skos:exactMatch HGNC_symbol:SNX11 Unspecified SNX11 +OMIM:614906 skos:exactMatch HGNC:14975 Unspecified SNX11 +OMIM:614906 skos:exactMatch UMLS:C1423102 Unspecified SNX11 +OMIM:614905 skos:exactMatch HGNC:14972 Unspecified SNX8 +OMIM:614905 skos:exactMatch UMLS:C1423099 Unspecified SNX8 +OMIM:614905 skos:exactMatch HGNC_symbol:SNX8 Unspecified SNX8 +OMIM:602921 skos:exactMatch UMLS:C1419050 Unspecified PSPN +OMIM:602921 skos:exactMatch HGNC_symbol:PSPN Unspecified PSPN +OMIM:602921 skos:exactMatch HGNC:9579 Unspecified PSPN +OMIM:614904 skos:exactMatch UMLS:C1423098 Unspecified SNX7 +OMIM:614904 skos:exactMatch HGNC_symbol:SNX7 Unspecified SNX7 +OMIM:614904 skos:exactMatch HGNC:14971 Unspecified SNX7 +OMIM:602923 skos:exactMatch HGNC:9887 Unspecified RBBP4 +OMIM:602923 skos:exactMatch UMLS:C1419289 Unspecified RBBP4 +OMIM:602923 skos:exactMatch HGNC_symbol:RBBP4 Unspecified RBBP4 +OMIM:614903 skos:exactMatch HGNC:14980 Unspecified SNX16 +OMIM:614903 skos:exactMatch HGNC_symbol:SNX16 Unspecified SNX16 +OMIM:614903 skos:exactMatch UMLS:C1423107 Unspecified SNX16 +OMIM:602924 skos:exactMatch HGNC_symbol:RND3 Unspecified RND3 +OMIM:602924 skos:exactMatch UMLS:C1538857 Unspecified RND3 +OMIM:602924 skos:exactMatch HGNC:671 Unspecified RND3 +OMIM:614902 skos:exactMatch UMLS:C1427903 Unspecified ARHGAP33 +OMIM:614902 skos:exactMatch HGNC_symbol:ARHGAP33 Unspecified ARHGAP33 +OMIM:614902 skos:exactMatch HGNC:23085 Unspecified ARHGAP33 +OMIM:614901 skos:exactMatch HGNC:16902 Unspecified BCKDK +OMIM:614901 skos:exactMatch HGNC_symbol:BCKDK Unspecified BCKDK +OMIM:614901 skos:exactMatch UMLS:C1538319 Unspecified BCKDK +OMIM:602925 skos:exactMatch UMLS:C1335213 Unspecified PIK3CB +OMIM:602925 skos:exactMatch HGNC:8976 Unspecified PIK3CB +OMIM:602925 skos:exactMatch HGNC_symbol:PIK3CB Unspecified PIK3CB +OMIM:602926 skos:exactMatch HGNC_symbol:STXBP1 Unspecified STXBP1 +OMIM:602926 skos:exactMatch UMLS:C2677326 Unspecified STXBP1 +OMIM:602926 skos:exactMatch HGNC:11444 Unspecified STXBP1 +OMIM:602926 skos:exactMatch UMLS:C1420506 Unspecified STXBP1 +OMIM:602926 skos:exactMatch UMLS:C2986382 Unspecified STXBP1 +OMIM:614900 skos:exactMatch UMLS:C3554042 Unspecified diamond-blackfan anemia 11 +OMIM:602927 skos:exactMatch HGNC_symbol:GPR19 Unspecified GPR19 +OMIM:602927 skos:exactMatch HGNC:4473 Unspecified GPR19 +OMIM:602927 skos:exactMatch UMLS:C1415212 Unspecified GPR19 +OMIM:602928 skos:exactMatch UMLS:C1420780 Unspecified TMOD2 +OMIM:602928 skos:exactMatch HGNC_symbol:TMOD2 Unspecified TMOD2 +OMIM:602928 skos:exactMatch HGNC:11872 Unspecified TMOD2 +OMIM:602929 skos:exactMatch UMLS:C1334348 Unspecified VWA5A +OMIM:602929 skos:exactMatch HGNC:6658 Unspecified VWA5A +OMIM:602929 skos:exactMatch HGNC_symbol:VWA5A Unspecified VWA5A +OMIM:602872 skos:exactMatch UMLS:C1413484 Unspecified CLIC1 +OMIM:602872 skos:exactMatch HGNC_symbol:CLIC1 Unspecified CLIC1 +OMIM:602872 skos:exactMatch HGNC:2062 Unspecified CLIC1 +OMIM:602873 skos:exactMatch HGNC_symbol:NRAP Unspecified NRAP +OMIM:602873 skos:exactMatch HGNC:7988 Unspecified NRAP +OMIM:602873 skos:exactMatch UMLS:C1417841 Unspecified NRAP +OMIM:602874 skos:exactMatch HGNC:12524 Unspecified UGCG +OMIM:602874 skos:exactMatch UMLS:C1421319 Unspecified UGCG +OMIM:602874 skos:exactMatch HGNC_symbol:UGCG Unspecified UGCG +OMIM:602875 skos:exactMatch UMLS:C1864356 Unspecified acromesomelic dysplasia 1 +OMIM:602876 skos:exactMatch HGNC:8104 Unspecified OCLN +OMIM:602876 skos:exactMatch HGNC_symbol:OCLN Unspecified OCLN +OMIM:602876 skos:exactMatch UMLS:C1417928 Unspecified OCLN +OMIM:602877 skos:exactMatch HGNC:9295 Unspecified PPP1R7 +OMIM:602877 skos:exactMatch HGNC_symbol:PPP1R7 Unspecified PPP1R7 +OMIM:602877 skos:exactMatch UMLS:C1418832 Unspecified PPP1R7 +OMIM:602878 skos:exactMatch HGNC_symbol:SLC30A3 Unspecified SLC30A3 +OMIM:602878 skos:exactMatch HGNC:11014 Unspecified SLC30A3 +OMIM:602878 skos:exactMatch UMLS:C1420180 Unspecified SLC30A3 +OMIM:614859 skos:exactMatch UMLS:C1866340 Unspecified peroxisome biogenesis disorder 3a (zellweger) +OMIM:614859 skos:exactMatch UMLS:C3553929 Unspecified peroxisome biogenesis disorder 3a (zellweger) +OMIM:602879 skos:exactMatch UMLS:C1414423 Unspecified EPB41L1 +OMIM:602879 skos:exactMatch HGNC_symbol:EPB41L1 Unspecified EPB41L1 +OMIM:602879 skos:exactMatch HGNC:3378 Unspecified EPB41L1 +OMIM:614858 skos:exactMatch UMLS:C3540450 Unspecified hypogonadotropic hypogonadism 14 with or without anosmia +OMIM:614857 skos:exactMatch UMLS:C3553915 Unspecified methylmalonic aciduria and homocystinuria, cblj iia +OMIM:614856 skos:exactMatch UMLS:C3553887 Unspecified osteogenesis imperfecta, iia 13 +OMIM:614855 skos:exactMatch HGNC:29246 Unspecified TBC1D14 +OMIM:614855 skos:exactMatch UMLS:C1428819 Unspecified TBC1D14 +OMIM:614855 skos:exactMatch HGNC_symbol:TBC1D14 Unspecified TBC1D14 +OMIM:614854 skos:exactMatch UMLS:C1825904 Unspecified LRRC59 +OMIM:614854 skos:exactMatch HGNC:28817 Unspecified LRRC59 +OMIM:614854 skos:exactMatch HGNC_symbol:LRRC59 Unspecified LRRC59 +OMIM:614853 skos:exactMatch UMLS:C1424799 Unspecified CRLF3 +OMIM:614853 skos:exactMatch HGNC_symbol:CRLF3 Unspecified CRLF3 +OMIM:614853 skos:exactMatch HGNC:17177 Unspecified CRLF3 +OMIM:614852 skos:exactMatch UMLS:C3553886 Unspecified microcephaly 9, primary, autosomal recessive +OMIM:614851 skos:exactMatch UMLS:C3553870 Unspecified seckel syndrome 7 +OMIM:614861 skos:exactMatch UMLS:C3553932 Unspecified deafness, autosomal recessive 98 +OMIM:614860 skos:exactMatch UMLS:C3538999 Unspecified dystonia 23 +OMIM:614860 skos:exactMatch ORPHA:420492 Unspecified dystonia 23 +OMIM:600209 skos:exactMatch UMLS:C1838420 Unspecified exostoses, multiple, iia 3 +OMIM:600207 skos:exactMatch UMLS:C1415694 Unspecified HPCAL1 +OMIM:600207 skos:exactMatch HGNC_symbol:HPCAL1 Unspecified HPCAL1 +OMIM:600207 skos:exactMatch HGNC:5145 Unspecified HPCAL1 +OMIM:600206 skos:exactMatch HGNC:3420 Unspecified EPS8 +OMIM:600206 skos:exactMatch HGNC_symbol:EPS8 Unspecified EPS8 +OMIM:600206 skos:exactMatch UMLS:C1333350 Unspecified EPS8 +OMIM:600204 skos:exactMatch UMLS:C1838429 Unspecified epiphyseal dysplasia, multiple, 2 +OMIM:600202 skos:exactMatch UMLS:C1838436 Unspecified dyslexia, susceptibility to, 2 +OMIM:600201 skos:exactMatch HGNC:745 Unspecified ASIP +OMIM:600201 skos:exactMatch UMLS:C1412581 Unspecified ASIP +OMIM:600201 skos:exactMatch HGNC_symbol:ASIP Unspecified ASIP +OMIM:602880 skos:exactMatch UMLS:C0013069 Unspecified GDF1 +OMIM:602880 skos:exactMatch UMLS:C0039685 Unspecified GDF1 +OMIM:602880 skos:exactMatch UMLS:C3178806 Unspecified GDF1 +OMIM:602880 skos:exactMatch HGNC_symbol:GDF1 Unspecified GDF1 +OMIM:602880 skos:exactMatch UMLS:C3151221 Unspecified GDF1 +OMIM:602880 skos:exactMatch HGNC:4214 Unspecified GDF1 +OMIM:602880 skos:exactMatch UMLS:C1415031 Unspecified GDF1 +OMIM:602880 skos:exactMatch UMLS:C0040761 Unspecified GDF1 +OMIM:602881 skos:exactMatch HGNC:8919 Unspecified PHF1 +OMIM:602881 skos:exactMatch HGNC_symbol:PHF1 Unspecified PHF1 +OMIM:602881 skos:exactMatch UMLS:C1418527 Unspecified PHF1 +OMIM:602882 skos:exactMatch HGNC:6550 Unspecified LECT2 +OMIM:602882 skos:exactMatch HGNC_symbol:LECT2 Unspecified LECT2 +OMIM:602882 skos:exactMatch UMLS:C1416824 Unspecified LECT2 +OMIM:602861 skos:exactMatch HGNC:9024 Unspecified PKP2 +OMIM:602861 skos:exactMatch UMLS:C1836906 Unspecified PKP2 +OMIM:602861 skos:exactMatch UMLS:C1418613 Unspecified PKP2 +OMIM:602861 skos:exactMatch HGNC_symbol:PKP2 Unspecified PKP2 +OMIM:600220 skos:exactMatch UMLS:C1335226 Unspecified PLCG2 +OMIM:600220 skos:exactMatch UMLS:C3553961 Unspecified PLCG2 +OMIM:600220 skos:exactMatch UMLS:C3280914 Unspecified PLCG2 +OMIM:600220 skos:exactMatch HGNC_symbol:PLCG2 Unspecified PLCG2 +OMIM:600220 skos:exactMatch HGNC:9066 Unspecified PLCG2 +OMIM:602862 skos:exactMatch HGNC:12457 Unspecified UAP1 +OMIM:602862 skos:exactMatch UMLS:C1421256 Unspecified UAP1 +OMIM:602862 skos:exactMatch HGNC_symbol:UAP1 Unspecified UAP1 +OMIM:602863 skos:exactMatch HGNC_symbol:WNT9A Unspecified WNT9A +OMIM:602863 skos:exactMatch HGNC:12778 Unspecified WNT9A +OMIM:602863 skos:exactMatch UMLS:C1421513 Unspecified WNT9A +OMIM:602864 skos:exactMatch HGNC_symbol:WNT9B Unspecified WNT9B +OMIM:602864 skos:exactMatch HGNC:12779 Unspecified WNT9B +OMIM:602864 skos:exactMatch UMLS:C1421514 Unspecified WNT9B +OMIM:602865 skos:exactMatch HGNC:2687 Unspecified BRINP1 +OMIM:602865 skos:exactMatch HGNC_symbol:BRINP1 Unspecified BRINP1 +OMIM:602865 skos:exactMatch UMLS:C1413915 Unspecified BRINP1 +OMIM:602866 skos:exactMatch HGNC:100 Unspecified ASIC1 +OMIM:602866 skos:exactMatch HGNC_symbol:ASIC1 Unspecified ASIC1 +OMIM:602866 skos:exactMatch UMLS:C1412115 Unspecified ASIC1 +OMIM:602867 skos:exactMatch UMLS:C1415932 Unspecified IGFBP7 +OMIM:602867 skos:exactMatch HGNC_symbol:IGFBP7 Unspecified IGFBP7 +OMIM:602867 skos:exactMatch HGNC:5476 Unspecified IGFBP7 +OMIM:614849 skos:exactMatch UMLS:C3553868 Unspecified encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 +OMIM:602868 skos:exactMatch HGNC_symbol:CDC5L Unspecified CDC5L +OMIM:602868 skos:exactMatch HGNC:1743 Unspecified CDC5L +OMIM:602868 skos:exactMatch UMLS:C1413267 Unspecified CDC5L +OMIM:614848 skos:exactMatch HGNC:29182 Unspecified CEP164 +OMIM:614848 skos:exactMatch HGNC_symbol:CEP164 Unspecified CEP164 +OMIM:614848 skos:exactMatch UMLS:C1824720 Unspecified CEP164 +OMIM:602869 skos:exactMatch UMLS:C1415649 Unspecified HNRNPU +OMIM:602869 skos:exactMatch HGNC_symbol:HNRNPU Unspecified HNRNPU +OMIM:602869 skos:exactMatch HGNC:5048 Unspecified HNRNPU +OMIM:602869 skos:exactMatch UMLS:C4479319 Unspecified HNRNPU +OMIM:614847 skos:exactMatch UMLS:C3553859 Unspecified epilepsy, idiopathic generalized, susceptibility to, 12 +OMIM:614846 skos:exactMatch UMLS:C3553858 Unspecified tetrasomy 15q26 +OMIM:614845 skos:exactMatch UMLS:C3541853 Unspecified nephronophthisis 15 +OMIM:614844 skos:exactMatch UMLS:C3553846 Unspecified nephronophthisis 14 +OMIM:614844 skos:exactMatch UMLS:C3539071 Unspecified nephronophthisis 14 +OMIM:614843 skos:exactMatch HGNC:26043 Unspecified ODAM +OMIM:614843 skos:exactMatch HGNC_symbol:ODAM Unspecified ODAM +OMIM:614843 skos:exactMatch UMLS:C1826507 Unspecified ODAM +OMIM:614842 skos:exactMatch UMLS:C3541462 Unspecified hypogonadotropic hypogonadism 13 with or without anosmia +OMIM:614841 skos:exactMatch UMLS:C1856897 Unspecified hypogonadotropic hypogonadism 12 with or without anosmia +OMIM:614840 skos:exactMatch UMLS:C3553844 Unspecified hypogonadotropic hypogonadism 11 with or without anosmia +OMIM:314200 skos:exactMatch HGNC:11583 Unspecified TBG +OMIM:314200 skos:exactMatch HGNC_symbol:SERPINA7 Unspecified TBG +OMIM:314200 skos:exactMatch UMLS:C1420598 Unspecified TBG +OMIM:614850 skos:exactMatch UMLS:C3553869 Unspecified encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 +OMIM:600215 skos:exactMatch HGNC_symbol:MFAP1 Unspecified MFAP1 +OMIM:600215 skos:exactMatch HGNC:7032 Unspecified MFAP1 +OMIM:600215 skos:exactMatch UMLS:C1417126 Unspecified MFAP1 +OMIM:600214 skos:exactMatch HGNC:320 Unspecified AGER +OMIM:600214 skos:exactMatch UMLS:C1412278 Unspecified AGER +OMIM:600214 skos:exactMatch HGNC_symbol:AGER Unspecified AGER +OMIM:600212 skos:exactMatch HGNC_symbol:FASN Unspecified FASN +OMIM:600212 skos:exactMatch HGNC:3594 Unspecified FASN +OMIM:600212 skos:exactMatch UMLS:C1367441 Unspecified FASN +OMIM:600211 skos:exactMatch HGNC_symbol:RUNX2 Unspecified RUNX2 +OMIM:600211 skos:exactMatch UMLS:C1419771 Unspecified RUNX2 +OMIM:600211 skos:exactMatch HGNC:10472 Unspecified RUNX2 +OMIM:602870 skos:exactMatch HGNC_symbol:IMPG1 Unspecified IMPG1 +OMIM:602870 skos:exactMatch HGNC:6055 Unspecified IMPG1 +OMIM:602870 skos:exactMatch UMLS:C1416430 Unspecified IMPG1 +OMIM:600210 skos:exactMatch HGNC_symbol:RUNX3 Unspecified RUNX3 +OMIM:600210 skos:exactMatch UMLS:C1419772 Unspecified RUNX3 +OMIM:600210 skos:exactMatch HGNC:10473 Unspecified RUNX3 +OMIM:602871 skos:exactMatch HGNC_symbol:PPL Unspecified PPL +OMIM:602871 skos:exactMatch UMLS:C1418813 Unspecified PPL +OMIM:602871 skos:exactMatch HGNC:9273 Unspecified PPL +OMIM:602850 skos:exactMatch HGNC_symbol:RNF4 Unspecified RNF4 +OMIM:602850 skos:exactMatch UMLS:C1419425 Unspecified RNF4 +OMIM:602850 skos:exactMatch HGNC:10067 Unspecified RNF4 +OMIM:602851 skos:exactMatch HGNC_symbol:ADGRV1 Unspecified ADGRV1 +OMIM:602851 skos:exactMatch HGNC:17416 Unspecified ADGRV1 +OMIM:602851 skos:exactMatch UMLS:C1424958 Unspecified ADGRV1 +OMIM:602852 skos:exactMatch UMLS:C1417880 Unspecified NUDT2 +OMIM:602852 skos:exactMatch HGNC:8049 Unspecified NUDT2 +OMIM:602852 skos:exactMatch HGNC_symbol:NUDT2 Unspecified NUDT2 +OMIM:602853 skos:exactMatch HGNC:9680 Unspecified PTPRR +OMIM:602853 skos:exactMatch UMLS:C1419123 Unspecified PTPRR +OMIM:602853 skos:exactMatch HGNC_symbol:PTPRR Unspecified PTPRR +OMIM:602854 skos:exactMatch HGNC:9530 Unspecified PSMA1 +OMIM:602854 skos:exactMatch UMLS:C1419003 Unspecified PSMA1 +OMIM:602854 skos:exactMatch HGNC_symbol:PSMA1 Unspecified PSMA1 +OMIM:614839 skos:exactMatch UMLS:C3553843 Unspecified hypogonadotropic hypogonadism 10 with or without anosmia +OMIM:602855 skos:exactMatch HGNC:9535 Unspecified PSMA6 +OMIM:602855 skos:exactMatch UMLS:C1419008 Unspecified PSMA6 +OMIM:602855 skos:exactMatch HGNC_symbol:PSMA6 Unspecified PSMA6 +OMIM:269880 skos:exactMatch UMLS:C0878684 Unspecified short syndrome +OMIM:614838 skos:exactMatch UMLS:C3553842 Unspecified hypogonadotropic hypogonadism 9 with or without anosmia +OMIM:602856 skos:exactMatch HGNC_symbol:RGS10 Unspecified RGS10 +OMIM:602856 skos:exactMatch HGNC:9992 Unspecified RGS10 +OMIM:602856 skos:exactMatch UMLS:C1419368 Unspecified RGS10 +OMIM:614837 skos:exactMatch UMLS:C3553841 Unspecified hypogonadotropic hypogonadism 8 with or without anosmia +OMIM:602857 skos:exactMatch HGNC_symbol:CHN2 Unspecified CHN2 +OMIM:602857 skos:exactMatch HGNC:1944 Unspecified CHN2 +OMIM:602857 skos:exactMatch UMLS:C1413397 Unspecified CHN2 +OMIM:614836 skos:exactMatch UMLS:C3553840 Unspecified human herpesvirus 8, susceptibility to +OMIM:602858 skos:exactMatch UMLS:C1414040 Unspecified DHCR7 +OMIM:602858 skos:exactMatch HGNC_symbol:DHCR7 Unspecified DHCR7 +OMIM:602858 skos:exactMatch HGNC:2860 Unspecified DHCR7 +OMIM:602859 skos:exactMatch UMLS:C1418470 Unspecified PEX10 +OMIM:602859 skos:exactMatch HGNC:8851 Unspecified PEX10 +OMIM:602859 skos:exactMatch HGNC_symbol:PEX10 Unspecified PEX10 +OMIM:614835 skos:exactMatch UMLS:C1538904 Unspecified ACTBL2 +OMIM:614835 skos:exactMatch HGNC:17780 Unspecified ACTBL2 +OMIM:614835 skos:exactMatch HGNC_symbol:ACTBL2 Unspecified ACTBL2 +OMIM:614834 skos:exactMatch UMLS:C3553839 Unspecified thyrotoxic periodic paralysis, susceptibility to, 3 +OMIM:614833 skos:exactMatch UMLS:C3553831 Unspecified microcephaly, short stature, and polymicrogyria with or without seizures +OMIM:614832 skos:exactMatch UMLS:C3553830 Unspecified amelogenesis imperfecta, hypomaturation type, iia4 +OMIM:614831 skos:exactMatch UMLS:C3553816 Unspecified spinocerebellar ataxia, autosomal recessive 13 +OMIM:614831 skos:exactMatch ORPHA:324262 Unspecified spinocerebellar ataxia, autosomal recessive 13 +OMIM:614831 skos:exactMatch ORPHA:363429 Unspecified spinocerebellar ataxia, autosomal recessive 13 +OMIM:614830 skos:exactMatch UMLS:C3553813 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 8 +OMIM:602860 skos:exactMatch UMLS:C1412854 Unspecified BUB1B +OMIM:602860 skos:exactMatch HGNC_symbol:BUB1B Unspecified BUB1B +OMIM:602860 skos:exactMatch HGNC:1149 Unspecified BUB1B +OMIM:302200 skos:exactMatch UMLS:C4049004 Unspecified cataract 40 +OMIM:302200 skos:exactMatch UMLS:C4049005 Unspecified cataract 40 +OMIM:302200 skos:exactMatch UMLS:C2930878 Unspecified cataract 40 +OMIM:602840 skos:exactMatch HGNC:11937 Unspecified CD70 +OMIM:602840 skos:exactMatch UMLS:C1824671 Unspecified CD70 +OMIM:602840 skos:exactMatch HGNC_symbol:CD70 Unspecified CD70 +OMIM:602841 skos:exactMatch HGNC:553 Unspecified AOX1 +OMIM:602841 skos:exactMatch UMLS:C1412433 Unspecified AOX1 +OMIM:602841 skos:exactMatch HGNC_symbol:AOX1 Unspecified AOX1 +OMIM:602842 skos:exactMatch HGNC_symbol:GMNN Unspecified GMNN +OMIM:602842 skos:exactMatch HGNC:17493 Unspecified GMNN +OMIM:602842 skos:exactMatch UMLS:C1333683 Unspecified GMNN +OMIM:602842 skos:exactMatch UMLS:C4225188 Unspecified GMNN +OMIM:614829 skos:exactMatch HGNC_symbol:ODAPH Unspecified ODAPH +OMIM:614829 skos:exactMatch UMLS:C1824169 Unspecified ODAPH +OMIM:614829 skos:exactMatch HGNC:26300 Unspecified ODAPH +OMIM:602843 skos:exactMatch HGNC:679 Unspecified ARHGDIB +OMIM:602843 skos:exactMatch HGNC_symbol:ARHGDIB Unspecified ARHGDIB +OMIM:602843 skos:exactMatch UMLS:C1412526 Unspecified ARHGDIB +OMIM:269870 skos:exactMatch UMLS:C1849235 Unspecified short stature-obesity syndrome +OMIM:614828 skos:exactMatch HGNC:25902 Unspecified POMGNT2 +OMIM:614828 skos:exactMatch HGNC_symbol:POMGNT2 Unspecified POMGNT2 +OMIM:614828 skos:exactMatch UMLS:C1824135 Unspecified POMGNT2 +OMIM:602844 skos:exactMatch HGNC:680 Unspecified ARHGDIG +OMIM:602844 skos:exactMatch HGNC_symbol:ARHGDIG Unspecified ARHGDIG +OMIM:602844 skos:exactMatch UMLS:C1412527 Unspecified ARHGDIG +OMIM:614827 skos:exactMatch HGNC:25570 Unspecified DNAJC11 +OMIM:614827 skos:exactMatch UMLS:C1539296 Unspecified DNAJC11 +OMIM:614827 skos:exactMatch HGNC_symbol:DNAJC11 Unspecified DNAJC11 +OMIM:602845 skos:exactMatch UMLS:C1416636 Unspecified KIF3C +OMIM:602845 skos:exactMatch HGNC_symbol:KIF3C Unspecified KIF3C +OMIM:602845 skos:exactMatch HGNC:6321 Unspecified KIF3C +OMIM:602846 skos:exactMatch HGNC:4914 Unspecified UBE2K +OMIM:602846 skos:exactMatch HGNC_symbol:UBE2K Unspecified UBE2K +OMIM:602846 skos:exactMatch UMLS:C1415547 Unspecified UBE2K +OMIM:614826 skos:exactMatch UMLS:C3553801 Unspecified nystagmus 7, congenital, autosomal dominant +OMIM:614825 skos:exactMatch UMLS:C1423590 Unspecified REPS1 +OMIM:614825 skos:exactMatch HGNC_symbol:REPS1 Unspecified REPS1 +OMIM:614825 skos:exactMatch HGNC:15578 Unspecified REPS1 +OMIM:602847 skos:exactMatch HGNC:4757 Unspecified HIST1H2BC +OMIM:602847 skos:exactMatch HGNC_symbol:H2BC4 Unspecified HIST1H2BC +OMIM:602847 skos:exactMatch UMLS:C1415421 Unspecified HIST1H2BC +OMIM:602848 skos:exactMatch HGNC_symbol:BRD8 Unspecified BRD8 +OMIM:602848 skos:exactMatch HGNC:19874 Unspecified BRD8 +OMIM:602848 skos:exactMatch UMLS:C1426499 Unspecified BRD8 +OMIM:614824 skos:exactMatch HGNC_symbol:AP5S1 Unspecified AP5S1 +OMIM:614824 skos:exactMatch HGNC:15875 Unspecified AP5S1 +OMIM:614824 skos:exactMatch UMLS:C3471304 Unspecified AP5S1 +OMIM:602849 skos:exactMatch UMLS:C1864436 Unspecified muenke syndrome +OMIM:614823 skos:exactMatch UMLS:C3542024 Unspecified aortic valve disease 2 +OMIM:614822 skos:exactMatch UMLS:C3553793 Unspecified spermatogenic failure 10 +OMIM:614821 skos:exactMatch UMLS:C3540258 Unspecified PTCSC3 +OMIM:614821 skos:exactMatch HGNC_symbol:PTCSC3 Unspecified PTCSC3 +OMIM:614821 skos:exactMatch HGNC:43959 Unspecified PTCSC3 +OMIM:614820 skos:exactMatch UMLS:C3553788 Unspecified alternating hemiplegia of childhood 2 +OMIM:600253 skos:exactMatch UMLS:C0596123 Unspecified AHR +OMIM:600253 skos:exactMatch UMLS:C5193041 Unspecified AHR +OMIM:600253 skos:exactMatch HGNC:348 Unspecified AHR +OMIM:600253 skos:exactMatch HGNC_symbol:AHR Unspecified AHR +OMIM:267200 skos:exactMatch UMLS:C1849435 Unspecified renal tubular acidosis 3 +OMIM:600252 skos:exactMatch UMLS:C0796020 Unspecified lowry-maclean syndrome +OMIM:600251 skos:exactMatch UMLS:C1838348 Unspecified facial clefting, oblique, 1 +OMIM:270850 skos:exactMatch UMLS:C1849113 Unspecified spastic paresis, glaucoma, and mental retardation +OMIM:600250 skos:exactMatch UMLS:C1363878 Unspecified XCL1 +OMIM:600250 skos:exactMatch HGNC_symbol:XCL1 Unspecified XCL1 +OMIM:600250 skos:exactMatch HGNC:10645 Unspecified XCL1 +OMIM:269860 skos:exactMatch ORPHA:93268 Unspecified short-rib thoracic dysplasia 12 +OMIM:269860 skos:exactMatch UMLS:C0432198 Unspecified short-rib thoracic dysplasia 12 +OMIM:612239 skos:exactMatch UMLS:C2677107 Unspecified scoliosis, isolated, susceptibility to, 5 +OMIM:612237 skos:exactMatch UMLS:C1275278 Unspecified chondrosarcoma, extraskeletal myxoid +OMIM:612238 skos:exactMatch UMLS:C2677108 Unspecified scoliosis, isolated, susceptibility to, 4 +OMIM:614899 skos:exactMatch UMLS:C3888355 Unspecified deafness, autosomal recessive 93 +OMIM:314240 skos:exactMatch UMLS:C1839140 Unspecified tooth size +OMIM:614898 skos:exactMatch UMLS:C3539494 Unspecified spastic paraplegia 53, autosomal recessive +OMIM:612235 skos:exactMatch UMLS:C1539417 Unspecified CALHM2 +OMIM:612235 skos:exactMatch HGNC:23493 Unspecified CALHM2 +OMIM:612235 skos:exactMatch HGNC_symbol:CALHM2 Unspecified CALHM2 +OMIM:614897 skos:exactMatch UMLS:C3554021 Unspecified hypogonadotropic hypogonadism 16 with or without anosmia +OMIM:612236 skos:exactMatch HGNC:30208 Unspecified ERGIC2 +OMIM:612236 skos:exactMatch HGNC_symbol:ERGIC2 Unspecified ERGIC2 +OMIM:612236 skos:exactMatch UMLS:C1825062 Unspecified ERGIC2 +OMIM:612233 skos:exactMatch UMLS:C2677109 Unspecified leukodystrophy, hypomyelinating, 4 +OMIM:614896 skos:exactMatch UMLS:C3554018 Unspecified sinoatrial node dysfunction and deafness +OMIM:612234 skos:exactMatch UMLS:C1539418 Unspecified CALHM1 +OMIM:612234 skos:exactMatch HGNC:23494 Unspecified CALHM1 +OMIM:612234 skos:exactMatch HGNC_symbol:CALHM1 Unspecified CALHM1 +OMIM:614895 skos:exactMatch ORPHA:99952 Unspecified charcot-marie-tooth disease, demyelinating, iia 4f +OMIM:614895 skos:exactMatch UMLS:C3540453 Unspecified charcot-marie-tooth disease, demyelinating, iia 4f +OMIM:612242 skos:exactMatch UMLS:C0345893 Unspecified chromosome 10q22.3-q23.2 deletion syndrome +OMIM:612242 skos:exactMatch UMLS:C4225669 Unspecified chromosome 10q22.3-q23.2 deletion syndrome +OMIM:612243 skos:exactMatch HGNC:13841 Unspecified ADGRG6 +OMIM:612243 skos:exactMatch UMLS:C1422227 Unspecified ADGRG6 +OMIM:612243 skos:exactMatch HGNC_symbol:ADGRG6 Unspecified ADGRG6 +OMIM:612240 skos:exactMatch UMLS:C2677106 Unspecified atrial fibrillation, familial, 7 +OMIM:612241 skos:exactMatch UMLS:C2677105 Unspecified inflammatory bowel disease 12 +OMIM:600249 skos:exactMatch UMLS:C1538259 Unspecified ALDH1L1 +OMIM:600249 skos:exactMatch HGNC_symbol:ALDH1L1 Unspecified ALDH1L1 +OMIM:600249 skos:exactMatch HGNC:3978 Unspecified ALDH1L1 +OMIM:600247 skos:exactMatch UMLS:C0812375 Unspecified ELK3 +OMIM:600247 skos:exactMatch HGNC:3325 Unspecified ELK3 +OMIM:600247 skos:exactMatch HGNC_symbol:ELK3 Unspecified ELK3 +OMIM:600246 skos:exactMatch HGNC:3326 Unspecified ELK4 +OMIM:600246 skos:exactMatch HGNC_symbol:ELK4 Unspecified ELK4 +OMIM:600246 skos:exactMatch UMLS:C1414381 Unspecified ELK4 +OMIM:600245 skos:exactMatch HGNC:3774 Unspecified FMOD +OMIM:600245 skos:exactMatch HGNC_symbol:FMOD Unspecified FMOD +OMIM:600245 skos:exactMatch UMLS:C1414648 Unspecified FMOD +OMIM:600244 skos:exactMatch HGNC:8760 Unspecified PDCD1 +OMIM:600244 skos:exactMatch UMLS:C1418401 Unspecified PDCD1 +OMIM:600244 skos:exactMatch HGNC_symbol:PDCD1 Unspecified PDCD1 +OMIM:600243 skos:exactMatch UMLS:C1413900 Unspecified DAD1 +OMIM:600243 skos:exactMatch HGNC_symbol:DAD1 Unspecified DAD1 +OMIM:600243 skos:exactMatch HGNC:2664 Unspecified DAD1 +OMIM:600264 skos:exactMatch UMLS:C1332123 Unspecified AVPR1B +OMIM:600264 skos:exactMatch HGNC:896 Unspecified AVPR1B +OMIM:600264 skos:exactMatch HGNC_symbol:AVPR1B Unspecified AVPR1B +OMIM:600263 skos:exactMatch UMLS:C1838332 Unspecified helicobacter pylori infection, susceptibility to +OMIM:600262 skos:exactMatch UMLS:C1367485 Unspecified PTGS2 +OMIM:600262 skos:exactMatch HGNC:9605 Unspecified PTGS2 +OMIM:600262 skos:exactMatch HGNC_symbol:PTGS2 Unspecified PTGS2 +OMIM:612228 skos:exactMatch UMLS:C2677124 Unspecified stature quantitative trait locus 14 +OMIM:612229 skos:exactMatch UMLS:C2677123 Unspecified colorectal cancer, susceptibility to, 3 +OMIM:614889 skos:exactMatch ORPHA:319574 Unspecified immunodeficiency 28 +OMIM:614889 skos:exactMatch ORPHA:319547 Unspecified immunodeficiency 28 +OMIM:614889 skos:exactMatch UMLS:C4013947 Unspecified immunodeficiency 28 +OMIM:612226 skos:exactMatch UMLS:C2677131 Unspecified stature quantitative trait locus 13 +OMIM:614888 skos:exactMatch HGNC:25662 Unspecified AAGAB +OMIM:614888 skos:exactMatch UMLS:C2828924 Unspecified AAGAB +OMIM:614888 skos:exactMatch HGNC_symbol:AAGAB Unspecified AAGAB +OMIM:612227 skos:exactMatch UMLS:C3837958 Unspecified diabetes mellitus, ketosis-prone +OMIM:612224 skos:exactMatch UMLS:C2677133 Unspecified stature quantitative trait locus 12 +OMIM:614887 skos:exactMatch UMLS:C3554004 Unspecified peroxisome biogenesis disorder 13a (zellweger) +OMIM:614887 skos:exactMatch UMLS:C1866257 Unspecified peroxisome biogenesis disorder 13a (zellweger) +OMIM:614886 skos:exactMatch UMLS:C3554002 Unspecified peroxisome biogenesis disorder 12a (zellweger) +OMIM:614886 skos:exactMatch UMLS:C1838299 Unspecified peroxisome biogenesis disorder 12a (zellweger) +OMIM:614886 skos:exactMatch UMLS:C1838300 Unspecified peroxisome biogenesis disorder 12a (zellweger) +OMIM:314250 skos:exactMatch UMLS:C1839130 Unspecified dystonia 3, torsion, X-linked +OMIM:612225 skos:exactMatch UMLS:C2677132 Unspecified maturity-onset diabetes of the young, iia 9 +OMIM:612222 skos:exactMatch UMLS:C1414950 Unspecified GALNS +OMIM:612222 skos:exactMatch HGNC:4122 Unspecified GALNS +OMIM:612222 skos:exactMatch HGNC_symbol:GALNS Unspecified GALNS +OMIM:614885 skos:exactMatch UMLS:C3554001 Unspecified peroxisome biogenesis disorder 11b +OMIM:612223 skos:exactMatch UMLS:C2677134 Unspecified stature quantitative trait locus 11 +OMIM:614884 skos:exactMatch HGNC_symbol:VWA3B Unspecified VWA3B +OMIM:614884 skos:exactMatch UMLS:C2240169 Unspecified VWA3B +OMIM:614884 skos:exactMatch HGNC:28385 Unspecified VWA3B +OMIM:612231 skos:exactMatch UMLS:C2677121 Unspecified colorectal cancer, susceptibility to, 6 +OMIM:612232 skos:exactMatch UMLS:C2677120 Unspecified colorectal cancer, susceptibility to, 7 +OMIM:614893 skos:exactMatch UMLS:C3808589 Unspecified immunodeficiency 32a +OMIM:614892 skos:exactMatch UMLS:C4013950 Unspecified immunodeficiency 31a +OMIM:614891 skos:exactMatch UMLS:C4013949 Unspecified immunodeficiency 30 +OMIM:612230 skos:exactMatch UMLS:C2677122 Unspecified colorectal cancer, susceptibility to, 5 +OMIM:614890 skos:exactMatch UMLS:C4013948 Unspecified immunodeficiency 29 +OMIM:600259 skos:exactMatch UMLS:C0879391 Unspecified PMS2 +OMIM:600259 skos:exactMatch UMLS:C1838333 Unspecified PMS2 +OMIM:600259 skos:exactMatch HGNC_symbol:PMS2 Unspecified PMS2 +OMIM:600259 skos:exactMatch UMLS:C5436817 Unspecified PMS2 +OMIM:600259 skos:exactMatch HGNC:9122 Unspecified PMS2 +OMIM:600258 skos:exactMatch HGNC_symbol:PMS1 Unspecified PMS1 +OMIM:600258 skos:exactMatch UMLS:C0879390 Unspecified PMS1 +OMIM:600258 skos:exactMatch HGNC:9121 Unspecified PMS1 +OMIM:600257 skos:exactMatch UMLS:C1838346 Unspecified chromosome 8q12.1-q21.2 deletion syndrome +OMIM:600231 skos:exactMatch UMLS:C1838359 Unspecified palmoplantar keratoderma, bothnian iia +OMIM:602894 skos:exactMatch UMLS:C1334311 Unspecified KLRD1 +OMIM:602894 skos:exactMatch HGNC:6378 Unspecified KLRD1 +OMIM:602894 skos:exactMatch HGNC_symbol:KLRD1 Unspecified KLRD1 +OMIM:602895 skos:exactMatch UMLS:C1335803 Unspecified SAFB +OMIM:602895 skos:exactMatch HGNC:10520 Unspecified SAFB +OMIM:602895 skos:exactMatch HGNC_symbol:SAFB Unspecified SAFB +OMIM:600230 skos:exactMatch UMLS:C5394555 Unspecified PLCB3 +OMIM:600230 skos:exactMatch HGNC:9056 Unspecified PLCB3 +OMIM:600230 skos:exactMatch UMLS:C1335225 Unspecified PLCB3 +OMIM:600230 skos:exactMatch HGNC_symbol:PLCB3 Unspecified PLCB3 +OMIM:269840 skos:exactMatch UMLS:C2931299 Unspecified immunodeficiency 48 +OMIM:602896 skos:exactMatch UMLS:C1334482 Unspecified MAPK9 +OMIM:602896 skos:exactMatch HGNC:6886 Unspecified MAPK9 +OMIM:602896 skos:exactMatch HGNC_symbol:MAPK9 Unspecified MAPK9 +OMIM:602897 skos:exactMatch UMLS:C1334478 Unspecified MAPK10 +OMIM:602897 skos:exactMatch HGNC_symbol:MAPK10 Unspecified MAPK10 +OMIM:602897 skos:exactMatch HGNC:6872 Unspecified MAPK10 +OMIM:602898 skos:exactMatch UMLS:C1366875 Unspecified MAPK11 +OMIM:602898 skos:exactMatch HGNC_symbol:MAPK11 Unspecified MAPK11 +OMIM:602898 skos:exactMatch HGNC:6873 Unspecified MAPK11 +OMIM:602899 skos:exactMatch UMLS:C1366898 Unspecified MAPK13 +OMIM:602899 skos:exactMatch HGNC_symbol:MAPK13 Unspecified MAPK13 +OMIM:602899 skos:exactMatch HGNC:6875 Unspecified MAPK13 +OMIM:612219 skos:exactMatch UMLS:C0877849 Unspecified ewing sarcoma +OMIM:612219 skos:exactMatch UMLS:C0553580 Unspecified ewing sarcoma +OMIM:612219 skos:exactMatch UMLS:C3489398 Unspecified ewing sarcoma +OMIM:612217 skos:exactMatch UMLS:C1427422 Unspecified ILRUN +OMIM:612217 skos:exactMatch HGNC_symbol:ILRUN Unspecified ILRUN +OMIM:612217 skos:exactMatch HGNC:21215 Unspecified ILRUN +OMIM:612218 skos:exactMatch HGNC_symbol:ZBTB38 Unspecified ZBTB38 +OMIM:612218 skos:exactMatch HGNC:26636 Unspecified ZBTB38 +OMIM:612218 skos:exactMatch UMLS:C1538156 Unspecified ZBTB38 +OMIM:614879 skos:exactMatch UMLS:C2749346 Unspecified peroxisome biogenesis disorder 9b +OMIM:614879 skos:exactMatch UMLS:C1866351 Unspecified peroxisome biogenesis disorder 9b +OMIM:614879 skos:exactMatch UMLS:C1866352 Unspecified peroxisome biogenesis disorder 9b +OMIM:612215 skos:exactMatch HGNC_symbol:SNHG6 Unspecified SNHG6 +OMIM:612215 skos:exactMatch HGNC:32965 Unspecified SNHG6 +OMIM:612215 skos:exactMatch UMLS:C1822801 Unspecified SNHG6 +OMIM:614878 skos:exactMatch UMLS:C3553961 Unspecified autoinflammation, antibody deficiency, and immune dysregulation +OMIM:614878 skos:exactMatch ORPHA:324530 Unspecified autoinflammation, antibody deficiency, and immune dysregulation +OMIM:614877 skos:exactMatch UMLS:C3553960 Unspecified peroxisome biogenesis disorder 8b +OMIM:612216 skos:exactMatch HGNC:32746 Unspecified SNORD87 +OMIM:612216 skos:exactMatch UMLS:C1822997 Unspecified SNORD87 +OMIM:612216 skos:exactMatch HGNC_symbol:SNORD87 Unspecified SNORD87 +OMIM:614876 skos:exactMatch UMLS:C3553959 Unspecified peroxisome biogenesis disorder 8a (zellweger) +OMIM:614876 skos:exactMatch UMLS:C1863999 Unspecified peroxisome biogenesis disorder 8a (zellweger) +OMIM:614876 skos:exactMatch UMLS:C1863998 Unspecified peroxisome biogenesis disorder 8a (zellweger) +OMIM:612213 skos:exactMatch HGNC:33906 Unspecified BSPH1 +OMIM:612213 skos:exactMatch UMLS:C2677154 Unspecified BSPH1 +OMIM:612213 skos:exactMatch HGNC_symbol:BSPH1 Unspecified BSPH1 +OMIM:614875 skos:exactMatch UMLS:C3553958 Unspecified metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria +OMIM:612214 skos:exactMatch HGNC_symbol:RGL4 Unspecified RGL4 +OMIM:612214 skos:exactMatch HGNC:31911 Unspecified RGL4 +OMIM:612214 skos:exactMatch UMLS:C2239883 Unspecified RGL4 +OMIM:614874 skos:exactMatch UMLS:C3543825 Unspecified ciliary dyskinesia, primary, 18 +OMIM:612211 skos:exactMatch HGNC_symbol:TRARG1 Unspecified TUSC5 +OMIM:612211 skos:exactMatch UMLS:C1540132 Unspecified TUSC5 +OMIM:612211 skos:exactMatch HGNC:29592 Unspecified TUSC5 +OMIM:612212 skos:exactMatch HGNC_symbol:PLGLA Unspecified PLGLA +OMIM:612212 skos:exactMatch UMLS:C2239826 Unspecified PLGLA +OMIM:612212 skos:exactMatch HGNC:9074 Unspecified PLGLA +OMIM:614873 skos:exactMatch UMLS:C3553951 Unspecified peroxisome biogenesis disorder 7b +OMIM:614883 skos:exactMatch UMLS:C3554000 Unspecified peroxisome biogenesis disorder 11a (zellweger) +OMIM:614883 skos:exactMatch UMLS:C1866260 Unspecified peroxisome biogenesis disorder 11a (zellweger) +OMIM:614883 skos:exactMatch UMLS:C1866259 Unspecified peroxisome biogenesis disorder 11a (zellweger) +OMIM:612220 skos:exactMatch HGNC:24137 Unspecified B4GALNT3 +OMIM:612220 skos:exactMatch HGNC_symbol:B4GALNT3 Unspecified B4GALNT3 +OMIM:612220 skos:exactMatch UMLS:C1825859 Unspecified B4GALNT3 +OMIM:612221 skos:exactMatch UMLS:C2677152 Unspecified stature quantitative trait locus 10 +OMIM:614882 skos:exactMatch UMLS:C1864172 Unspecified peroxisome biogenesis disorder 10a (zellweger) +OMIM:614882 skos:exactMatch UMLS:C1864171 Unspecified peroxisome biogenesis disorder 10a (zellweger) +OMIM:614882 skos:exactMatch UMLS:C3553999 Unspecified peroxisome biogenesis disorder 10a (zellweger) +OMIM:614881 skos:exactMatch UMLS:C3553989 Unspecified spinal muscular atrophy, distal, autosomal recessive, 5 +OMIM:257850 skos:exactMatch UMLS:C2749477 Unspecified oculodentodigital dysplasia, autosomal recessive +OMIM:614880 skos:exactMatch UMLS:C3553977 Unspecified hypogonadotropic hypogonadism 15 with or without anosmia +OMIM:600229 skos:exactMatch HGNC_symbol:SLC1A4 Unspecified SLC1A4 +OMIM:600229 skos:exactMatch HGNC:10942 Unspecified SLC1A4 +OMIM:600229 skos:exactMatch UMLS:C4225254 Unspecified SLC1A4 +OMIM:600229 skos:exactMatch UMLS:C1420122 Unspecified SLC1A4 +OMIM:600228 skos:exactMatch UMLS:C4748292 Unspecified SCNN1A +OMIM:600228 skos:exactMatch UMLS:C2751666 Unspecified SCNN1A +OMIM:600228 skos:exactMatch UMLS:C1449843 Unspecified SCNN1A +OMIM:600228 skos:exactMatch HGNC_symbol:SCNN1A Unspecified SCNN1A +OMIM:600228 skos:exactMatch UMLS:C1419868 Unspecified SCNN1A +OMIM:600228 skos:exactMatch HGNC:10599 Unspecified SCNN1A +OMIM:600227 skos:exactMatch HGNC_symbol:CCNF Unspecified CCNF +OMIM:600227 skos:exactMatch HGNC:1591 Unspecified CCNF +OMIM:600227 skos:exactMatch UMLS:C1413178 Unspecified CCNF +OMIM:600225 skos:exactMatch HGNC_symbol:GCH1 Unspecified GCH1 +OMIM:600225 skos:exactMatch HGNC:4193 Unspecified GCH1 +OMIM:600225 skos:exactMatch UMLS:C1415012 Unspecified GCH1 +OMIM:600224 skos:exactMatch UMLS:C0752123 Unspecified spinocerebellar ataxia 5 +OMIM:600223 skos:exactMatch UMLS:C0752122 Unspecified spinocerebellar ataxia 4 +OMIM:600222 skos:exactMatch HGNC_symbol:TIE1 Unspecified TIE1 +OMIM:600222 skos:exactMatch UMLS:C1539965 Unspecified TIE1 +OMIM:600222 skos:exactMatch HGNC:11809 Unspecified TIE1 +OMIM:600221 skos:exactMatch UMLS:C1336602 Unspecified TEK +OMIM:600221 skos:exactMatch HGNC_symbol:TEK Unspecified TEK +OMIM:600221 skos:exactMatch HGNC:11724 Unspecified TEK +OMIM:600242 skos:exactMatch HGNC_symbol:CCR7 Unspecified CCR7 +OMIM:600242 skos:exactMatch UMLS:C1413191 Unspecified CCR7 +OMIM:600242 skos:exactMatch HGNC:1608 Unspecified CCR7 +OMIM:602883 skos:exactMatch UMLS:C1420130 Unspecified SLCO1A2 +OMIM:602883 skos:exactMatch HGNC:10956 Unspecified SLCO1A2 +OMIM:602883 skos:exactMatch HGNC_symbol:SLCO1A2 Unspecified SLCO1A2 +OMIM:600241 skos:exactMatch HGNC:4484 Unspecified GPR3 +OMIM:600241 skos:exactMatch HGNC_symbol:GPR3 Unspecified GPR3 +OMIM:600241 skos:exactMatch UMLS:C1415222 Unspecified GPR3 +OMIM:602884 skos:exactMatch HGNC:4369 Unspecified GMDS +OMIM:602884 skos:exactMatch HGNC_symbol:GMDS Unspecified GMDS +OMIM:602884 skos:exactMatch UMLS:C1415129 Unspecified GMDS +OMIM:602885 skos:exactMatch HGNC_symbol:MLNR Unspecified MLNR +OMIM:602885 skos:exactMatch HGNC:4495 Unspecified MLNR +OMIM:602885 skos:exactMatch UMLS:C1537925 Unspecified MLNR +OMIM:600240 skos:exactMatch UMLS:C1333692 Unspecified CCR10 +OMIM:600240 skos:exactMatch HGNC:4474 Unspecified CCR10 +OMIM:600240 skos:exactMatch HGNC_symbol:CCR10 Unspecified CCR10 +OMIM:602886 skos:exactMatch HGNC_symbol:GPR39 Unspecified GPR39 +OMIM:602886 skos:exactMatch UMLS:C1333694 Unspecified GPR39 +OMIM:602886 skos:exactMatch HGNC:4496 Unspecified GPR39 +OMIM:602887 skos:exactMatch HGNC:2903 Unspecified DLG4 +OMIM:602887 skos:exactMatch HGNC_symbol:DLG4 Unspecified DLG4 +OMIM:602887 skos:exactMatch UMLS:C1333226 Unspecified DLG4 +OMIM:602887 skos:exactMatch UMLS:C5394083 Unspecified DLG4 +OMIM:602888 skos:exactMatch HGNC_symbol:BHMT Unspecified BHMT +OMIM:602888 skos:exactMatch UMLS:C1412794 Unspecified BHMT +OMIM:602888 skos:exactMatch HGNC:1047 Unspecified BHMT +OMIM:612208 skos:exactMatch UMLS:C1539590 Unspecified GOLPH3L +OMIM:612208 skos:exactMatch HGNC_symbol:GOLPH3L Unspecified GOLPH3L +OMIM:612208 skos:exactMatch HGNC:24882 Unspecified GOLPH3L +OMIM:612209 skos:exactMatch HGNC:14907 Unspecified MSGN1 +OMIM:612209 skos:exactMatch HGNC_symbol:MSGN1 Unspecified MSGN1 +OMIM:612209 skos:exactMatch UMLS:C1826308 Unspecified MSGN1 +OMIM:612206 skos:exactMatch HGNC_symbol:FJX1 Unspecified FJX1 +OMIM:612206 skos:exactMatch HGNC:17166 Unspecified FJX1 +OMIM:612206 skos:exactMatch UMLS:C1424790 Unspecified FJX1 +OMIM:614869 skos:exactMatch UMLS:C3553944 Unspecified usher syndrome, iia 1j +OMIM:612207 skos:exactMatch HGNC_symbol:GOLPH3 Unspecified GOLPH3 +OMIM:612207 skos:exactMatch HGNC:15452 Unspecified GOLPH3 +OMIM:612207 skos:exactMatch UMLS:C1423498 Unspecified GOLPH3 +OMIM:614868 skos:exactMatch UMLS:C3553943 Unspecified t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations +OMIM:612204 skos:exactMatch HGNC_symbol:ATG9A Unspecified ATG9A +OMIM:612204 skos:exactMatch HGNC:22408 Unspecified ATG9A +OMIM:612204 skos:exactMatch UMLS:C1825499 Unspecified ATG9A +OMIM:614867 skos:exactMatch UMLS:C3542026 Unspecified peroxisome biogenesis disorder 5b +OMIM:614866 skos:exactMatch UMLS:C3553940 Unspecified peroxisome biogenesis disorder 5a (zellweger) +OMIM:614866 skos:exactMatch UMLS:C3553942 Unspecified peroxisome biogenesis disorder 5a (zellweger) +OMIM:614866 skos:exactMatch UMLS:C3553941 Unspecified peroxisome biogenesis disorder 5a (zellweger) +OMIM:614866 skos:exactMatch UMLS:C3539010 Unspecified peroxisome biogenesis disorder 5a (zellweger) +OMIM:612205 skos:exactMatch UMLS:C1825500 Unspecified ATG9B +OMIM:612205 skos:exactMatch HGNC:21899 Unspecified ATG9B +OMIM:612205 skos:exactMatch HGNC_symbol:ATG9B Unspecified ATG9B +OMIM:612202 skos:exactMatch UMLS:C1425372 Unspecified SOX7 +OMIM:612202 skos:exactMatch HGNC_symbol:SOX7 Unspecified SOX7 +OMIM:612202 skos:exactMatch HGNC:18196 Unspecified SOX7 +OMIM:614865 skos:exactMatch UMLS:C3553939 Unspecified DBET +OMIM:614865 skos:exactMatch HGNC:43904 Unspecified DBET +OMIM:614865 skos:exactMatch HGNC_symbol:DBET Unspecified DBET +OMIM:612203 skos:exactMatch HGNC_symbol:NAP1L5 Unspecified NAP1L5 +OMIM:612203 skos:exactMatch UMLS:C1426570 Unspecified NAP1L5 +OMIM:612203 skos:exactMatch HGNC:19968 Unspecified NAP1L5 +OMIM:614864 skos:exactMatch HGNC:26013 Unspecified DNAAF5 +OMIM:614864 skos:exactMatch HGNC_symbol:DNAAF5 Unspecified DNAAF5 +OMIM:614864 skos:exactMatch UMLS:C1825454 Unspecified DNAAF5 +OMIM:614863 skos:exactMatch UMLS:C3553937 Unspecified peroxisome biogenesis disorder 4b +OMIM:612200 skos:exactMatch HGNC:28490 Unspecified DIPK2A +OMIM:612200 skos:exactMatch HGNC_symbol:DIPK2A Unspecified DIPK2A +OMIM:612200 skos:exactMatch UMLS:C1824154 Unspecified DIPK2A +OMIM:614862 skos:exactMatch UMLS:C3553936 Unspecified peroxisome biogenesis disorder 4a (zellweger) +OMIM:614862 skos:exactMatch UMLS:C1832231 Unspecified peroxisome biogenesis disorder 4a (zellweger) +OMIM:614862 skos:exactMatch UMLS:C1832230 Unspecified peroxisome biogenesis disorder 4a (zellweger) +OMIM:614862 skos:exactMatch UMLS:C1832232 Unspecified peroxisome biogenesis disorder 4a (zellweger) +OMIM:612201 skos:exactMatch UMLS:C2677294 Unspecified atrial fibrillation, familial, 6 +OMIM:255200 skos:exactMatch ORPHA:169186 Unspecified myopathy, centronuclear, 2 +OMIM:255200 skos:exactMatch UMLS:C0410204 Unspecified myopathy, centronuclear, 2 +OMIM:614872 skos:exactMatch UMLS:C3888385 Unspecified peroxisome biogenesis disorder 7a (zellweger) +OMIM:614872 skos:exactMatch UMLS:C3539168 Unspecified peroxisome biogenesis disorder 7a (zellweger) +OMIM:614872 skos:exactMatch UMLS:C3553950 Unspecified peroxisome biogenesis disorder 7a (zellweger) +OMIM:614871 skos:exactMatch UMLS:C3553948 Unspecified peroxisome biogenesis disorder 6b +OMIM:612210 skos:exactMatch UMLS:C2677155 Unspecified HULC +OMIM:612210 skos:exactMatch HGNC:34232 Unspecified HULC +OMIM:612210 skos:exactMatch HGNC_symbol:HULC Unspecified HULC +OMIM:614870 skos:exactMatch UMLS:C3553947 Unspecified peroxisome biogenesis disorder 6a (zellweger) +OMIM:614870 skos:exactMatch UMLS:C1864399 Unspecified peroxisome biogenesis disorder 6a (zellweger) +OMIM:600239 skos:exactMatch HGNC:4463 Unspecified GPR1 +OMIM:600239 skos:exactMatch HGNC_symbol:CMKLR2 Unspecified GPR1 +OMIM:600239 skos:exactMatch UMLS:C1415206 Unspecified GPR1 +OMIM:600238 skos:exactMatch HGNC_symbol:TGM3 Unspecified TGM3 +OMIM:600238 skos:exactMatch HGNC:11779 Unspecified TGM3 +OMIM:600238 skos:exactMatch UMLS:C1420715 Unspecified TGM3 +OMIM:600237 skos:exactMatch UMLS:C1415549 Unspecified HIRA +OMIM:600237 skos:exactMatch HGNC_symbol:HIRA Unspecified HIRA +OMIM:600237 skos:exactMatch HGNC:4916 Unspecified HIRA +OMIM:600236 skos:exactMatch HGNC:1857 Unspecified CENPF +OMIM:600236 skos:exactMatch HGNC_symbol:CENPF Unspecified CENPF +OMIM:600236 skos:exactMatch UMLS:C1332752 Unspecified CENPF +OMIM:600235 skos:exactMatch HGNC_symbol:SCN1B Unspecified SCN1B +OMIM:600235 skos:exactMatch UMLS:C1858672 Unspecified SCN1B +OMIM:600235 skos:exactMatch UMLS:C4479236 Unspecified SCN1B +OMIM:600235 skos:exactMatch UMLS:C1419857 Unspecified SCN1B +OMIM:600235 skos:exactMatch UMLS:C2748541 Unspecified SCN1B +OMIM:600235 skos:exactMatch UMLS:C2748542 Unspecified SCN1B +OMIM:600235 skos:exactMatch HGNC:10586 Unspecified SCN1B +OMIM:600235 skos:exactMatch UMLS:C3809311 Unspecified SCN1B +OMIM:602890 skos:exactMatch HGNC:6373 Unspecified KLRB1 +OMIM:602890 skos:exactMatch HGNC_symbol:KLRB1 Unspecified KLRB1 +OMIM:602890 skos:exactMatch UMLS:C1334310 Unspecified KLRB1 +OMIM:600234 skos:exactMatch HGNC:5008 Unspecified HMGCS2 +OMIM:600234 skos:exactMatch HGNC_symbol:HMGCS2 Unspecified HMGCS2 +OMIM:600234 skos:exactMatch UMLS:C1415617 Unspecified HMGCS2 +OMIM:602891 skos:exactMatch HGNC:6375 Unspecified KLRC2 +OMIM:602891 skos:exactMatch UMLS:C1416683 Unspecified KLRC2 +OMIM:602891 skos:exactMatch HGNC_symbol:KLRC2 Unspecified KLRC2 +OMIM:600233 skos:exactMatch UMLS:C1414921 Unspecified GABRG3 +OMIM:600233 skos:exactMatch HGNC:4088 Unspecified GABRG3 +OMIM:600233 skos:exactMatch HGNC_symbol:GABRG3 Unspecified GABRG3 +OMIM:602892 skos:exactMatch HGNC:6376 Unspecified KLRC3 +OMIM:602892 skos:exactMatch UMLS:C1416684 Unspecified KLRC3 +OMIM:602892 skos:exactMatch HGNC_symbol:KLRC3 Unspecified KLRC3 +OMIM:600232 skos:exactMatch UMLS:C1414915 Unspecified GABRB2 +OMIM:600232 skos:exactMatch HGNC:4082 Unspecified GABRB2 +OMIM:600232 skos:exactMatch HGNC_symbol:GABRB2 Unspecified GABRB2 +OMIM:602893 skos:exactMatch HGNC:6377 Unspecified KLRC4 +OMIM:602893 skos:exactMatch UMLS:C1416685 Unspecified KLRC4 +OMIM:602893 skos:exactMatch HGNC_symbol:KLRC4 Unspecified KLRC4 +OMIM:600297 skos:exactMatch HGNC_symbol:CDX2 Unspecified CDX2 +OMIM:600297 skos:exactMatch HGNC:1806 Unspecified CDX2 +OMIM:600297 skos:exactMatch UMLS:C1332743 Unspecified CDX2 +OMIM:600296 skos:exactMatch UMLS:C1417809 Unspecified NPPC +OMIM:600296 skos:exactMatch HGNC_symbol:NPPC Unspecified NPPC +OMIM:600296 skos:exactMatch HGNC:7941 Unspecified NPPC +OMIM:600295 skos:exactMatch UMLS:C1417808 Unspecified NPPB +OMIM:600295 skos:exactMatch HGNC_symbol:NPPB Unspecified NPPB +OMIM:600295 skos:exactMatch HGNC:7940 Unspecified NPPB +OMIM:135400 skos:exactMatch UMLS:C1851120 Unspecified hypertrichosis, congenital generalized, with or without gingival hyperplasia +OMIM:600294 skos:exactMatch HGNC:237 Unspecified ADCY6 +OMIM:600294 skos:exactMatch UMLS:C1412225 Unspecified ADCY6 +OMIM:600294 skos:exactMatch HGNC_symbol:ADCY6 Unspecified ADCY6 +OMIM:600293 skos:exactMatch HGNC:236 Unspecified ADCY5 +OMIM:600293 skos:exactMatch UMLS:C1412224 Unspecified ADCY5 +OMIM:600293 skos:exactMatch HGNC_symbol:ADCY5 Unspecified ADCY5 +OMIM:600292 skos:exactMatch HGNC:235 Unspecified ADCY4 +OMIM:600292 skos:exactMatch UMLS:C1412223 Unspecified ADCY4 +OMIM:600292 skos:exactMatch HGNC_symbol:ADCY4 Unspecified ADCY4 +OMIM:600291 skos:exactMatch UMLS:C1412222 Unspecified ADCY3 +OMIM:600291 skos:exactMatch HGNC_symbol:ADCY3 Unspecified ADCY3 +OMIM:600291 skos:exactMatch HGNC:234 Unspecified ADCY3 +OMIM:612279 skos:exactMatch UMLS:C2677078 Unspecified generalized epilepsy with febrile seizures plus, iia 6 +OMIM:612277 skos:exactMatch UMLS:C1540185 Unspecified ADAMTSL2 +OMIM:612277 skos:exactMatch HGNC_symbol:ADAMTSL2 Unspecified ADAMTSL2 +OMIM:612277 skos:exactMatch HGNC:14631 Unspecified ADAMTSL2 +OMIM:612278 skos:exactMatch UMLS:C2677079 Unspecified inflammatory bowel disease (crohn disease) 19 +OMIM:231200 skos:exactMatch UMLS:C2713537 Unspecified bernard-soulier syndrome +OMIM:231200 skos:exactMatch UMLS:C1856447 Unspecified bernard-soulier syndrome +OMIM:231200 skos:exactMatch UMLS:C1856448 Unspecified bernard-soulier syndrome +OMIM:231200 skos:exactMatch UMLS:C3278148 Unspecified bernard-soulier syndrome +OMIM:231200 skos:exactMatch UMLS:C0005129 Unspecified bernard-soulier syndrome +OMIM:612286 skos:exactMatch UMLS:C2676786 Unspecified nephrolithiasis/osteoporosis, hypophosphatemic, 1 +OMIM:612287 skos:exactMatch UMLS:C2676782 Unspecified nephrolithiasis/osteoporosis, hypophosphatemic, 2 +OMIM:612284 skos:exactMatch UMLS:C2676790 Unspecified meckel syndrome, iia 6 +OMIM:612285 skos:exactMatch ORPHA:2318 Unspecified joubert syndrome 9 +OMIM:612285 skos:exactMatch UMLS:C2676788 Unspecified joubert syndrome 9 +OMIM:612282 skos:exactMatch HGNC_symbol:ZNF804A Unspecified ZNF804A +OMIM:612282 skos:exactMatch HGNC:21711 Unspecified ZNF804A +OMIM:612282 skos:exactMatch UMLS:C1824069 Unspecified ZNF804A +OMIM:612283 skos:exactMatch HGNC_symbol:PROC Unspecified PROC +OMIM:612283 skos:exactMatch HGNC:9451 Unspecified PROC +OMIM:612283 skos:exactMatch UMLS:C1418943 Unspecified PROC +OMIM:612280 skos:exactMatch HGNC_symbol:FUCA1 Unspecified FUCA1 +OMIM:612280 skos:exactMatch UMLS:C1414857 Unspecified FUCA1 +OMIM:612280 skos:exactMatch HGNC:4006 Unspecified FUCA1 +OMIM:612281 skos:exactMatch UMLS:C2677065 Unspecified ichthyosis, congenital, autosomal recessive 6 +OMIM:600289 skos:exactMatch HGNC:6876 Unspecified MAPK14 +OMIM:600289 skos:exactMatch UMLS:C1366876 Unspecified MAPK14 +OMIM:600289 skos:exactMatch HGNC_symbol:MAPK14 Unspecified MAPK14 +OMIM:600288 skos:exactMatch UMLS:C1415627 Unspecified FOXA2 +OMIM:600288 skos:exactMatch HGNC_symbol:FOXA2 Unspecified FOXA2 +OMIM:600288 skos:exactMatch HGNC:5022 Unspecified FOXA2 +OMIM:600287 skos:exactMatch HGNC:4162 Unspecified GARS1 +OMIM:600287 skos:exactMatch UMLS:C5436669 Unspecified GARS1 +OMIM:600287 skos:exactMatch UMLS:C5399969 Unspecified GARS1 +OMIM:600287 skos:exactMatch HGNC_symbol:GARS1 Unspecified GARS1 +OMIM:600287 skos:exactMatch UMLS:C1414988 Unspecified GARS1 +OMIM:600287 skos:exactMatch UMLS:C1832274 Unspecified GARS1 +OMIM:243200 skos:exactMatch UMLS:C0033845 Unspecified intracranial hypertension, idiopathic +OMIM:304800 skos:exactMatch UMLS:C1563705 Unspecified diabetes insipidus, nephrogenic, 1, X-linked +OMIM:612268 skos:exactMatch HGNC_symbol:TTLL5 Unspecified TTLL5 +OMIM:612268 skos:exactMatch UMLS:C4014501 Unspecified TTLL5 +OMIM:612268 skos:exactMatch HGNC:19963 Unspecified TTLL5 +OMIM:612268 skos:exactMatch UMLS:C1823540 Unspecified TTLL5 +OMIM:612269 skos:exactMatch UMLS:C2677087 Unspecified epilepsy, childhood absence, susceptibility to, 5 +OMIM:612266 skos:exactMatch UMLS:C1825257 Unspecified FAM120B +OMIM:612266 skos:exactMatch HGNC:21109 Unspecified FAM120B +OMIM:612266 skos:exactMatch HGNC_symbol:FAM120B Unspecified FAM120B +OMIM:612267 skos:exactMatch UMLS:C2677088 Unspecified skin/hair/eye pigmentation, variation in, 10 +OMIM:612275 skos:exactMatch HGNC_symbol:GGNBP2 Unspecified GGNBP2 +OMIM:612275 skos:exactMatch UMLS:C1426189 Unspecified GGNBP2 +OMIM:612275 skos:exactMatch HGNC:19357 Unspecified GGNBP2 +OMIM:612276 skos:exactMatch HGNC_symbol:YRDC Unspecified YRDC +OMIM:612276 skos:exactMatch UMLS:C1823895 Unspecified YRDC +OMIM:612276 skos:exactMatch HGNC:28905 Unspecified YRDC +OMIM:612274 skos:exactMatch UMLS:C2677085 Unspecified ciliary dyskinesia, primary, 8 +OMIM:612271 skos:exactMatch UMLS:C2677086 Unspecified skin/hair/eye pigmentation, variation in, 11 +OMIM:612270 skos:exactMatch HGNC_symbol:CDCA4 Unspecified CDCA4 +OMIM:612270 skos:exactMatch HGNC:14625 Unspecified CDCA4 +OMIM:612270 skos:exactMatch UMLS:C1422797 Unspecified CDCA4 +OMIM:270805 skos:exactMatch UMLS:C1849114 Unspecified spastic paraplegia with myoclonic epilepsy +OMIM:270800 skos:exactMatch UMLS:C1849115 Unspecified spastic paraplegia 5a, autosomal recessive +OMIM:270800 skos:exactMatch ORPHA:100986 Unspecified spastic paraplegia 5a, autosomal recessive +OMIM:600299 skos:exactMatch HGNC:8727 Unspecified PCM1 +OMIM:600299 skos:exactMatch HGNC_symbol:PCM1 Unspecified PCM1 +OMIM:600299 skos:exactMatch UMLS:C1418374 Unspecified PCM1 +OMIM:600298 skos:exactMatch UMLS:C1416889 Unspecified LMX1A +OMIM:600298 skos:exactMatch UMLS:C2986382 Unspecified LMX1A +OMIM:600298 skos:exactMatch HGNC_symbol:LMX1A Unspecified LMX1A +OMIM:600298 skos:exactMatch UMLS:C1832379 Unspecified LMX1A +OMIM:600298 skos:exactMatch HGNC:6653 Unspecified LMX1A +OMIM:600275 skos:exactMatch UMLS:C1417767 Unspecified NOTCH2 +OMIM:600275 skos:exactMatch HGNC_symbol:NOTCH2 Unspecified NOTCH2 +OMIM:600275 skos:exactMatch HGNC:7882 Unspecified NOTCH2 +OMIM:600274 skos:exactMatch ORPHA:282 Unspecified frontotemporal dementia +OMIM:600274 skos:exactMatch UMLS:C0338451 Unspecified frontotemporal dementia +OMIM:600274 skos:exactMatch ORPHA:100070 Unspecified frontotemporal dementia +OMIM:600274 skos:exactMatch ORPHA:100069 Unspecified frontotemporal dementia +OMIM:600274 skos:exactMatch UMLS:C0520716 Unspecified frontotemporal dementia +OMIM:600274 skos:exactMatch ORPHA:275864 Unspecified frontotemporal dementia +OMIM:600273 skos:exactMatch UMLS:C1838327 Unspecified polycystic kidney disease, infantile severe, with tuberous sclerosis +OMIM:600272 skos:exactMatch HGNC:2184 Unspecified COIL +OMIM:600272 skos:exactMatch UMLS:C1413568 Unspecified COIL +OMIM:600272 skos:exactMatch HGNC_symbol:COIL Unspecified COIL +OMIM:600271 skos:exactMatch HGNC:3037 Unspecified DSC3 +OMIM:600271 skos:exactMatch UMLS:C1414158 Unspecified DSC3 +OMIM:600271 skos:exactMatch HGNC_symbol:DSC3 Unspecified DSC3 +OMIM:600270 skos:exactMatch HGNC:8738 Unspecified PCOLCE +OMIM:600270 skos:exactMatch HGNC_symbol:PCOLCE Unspecified PCOLCE +OMIM:600270 skos:exactMatch UMLS:C1418383 Unspecified PCOLCE +OMIM:612259 skos:exactMatch UMLS:C2677093 Unspecified inflammatory bowel disease 16 +OMIM:612257 skos:exactMatch UMLS:C1425969 Unspecified MAST2 +OMIM:612257 skos:exactMatch HGNC:19035 Unspecified MAST2 +OMIM:612257 skos:exactMatch HGNC_symbol:MAST2 Unspecified MAST2 +OMIM:612258 skos:exactMatch UMLS:C1425970 Unspecified MAST3 +OMIM:612258 skos:exactMatch HGNC:19036 Unspecified MAST3 +OMIM:612258 skos:exactMatch HGNC_symbol:MAST3 Unspecified MAST3 +OMIM:269800 skos:exactMatch UMLS:C1849249 Unspecified senile plaque formation +OMIM:612255 skos:exactMatch UMLS:C2677094 Unspecified inflammatory bowel disease 15 +OMIM:612256 skos:exactMatch HGNC:19034 Unspecified MAST1 +OMIM:612256 skos:exactMatch UMLS:C1537669 Unspecified MAST1 +OMIM:612256 skos:exactMatch HGNC_symbol:MAST1 Unspecified MAST1 +OMIM:612264 skos:exactMatch HGNC:16875 Unspecified MRC2 +OMIM:612264 skos:exactMatch HGNC_symbol:MRC2 Unspecified MRC2 +OMIM:612264 skos:exactMatch UMLS:C1424610 Unspecified MRC2 +OMIM:612265 skos:exactMatch UMLS:C1825255 Unspecified FAM120A +OMIM:612265 skos:exactMatch HGNC:13247 Unspecified FAM120A +OMIM:612265 skos:exactMatch HGNC_symbol:FAM120A Unspecified FAM120A +OMIM:612262 skos:exactMatch UMLS:C2677090 Unspecified inflammatory bowel disease 18 +OMIM:612263 skos:exactMatch UMLS:C2677089 Unspecified melanoma, cutaneous malignant, susceptibility to, 7 +OMIM:612260 skos:exactMatch UMLS:C2677092 Unspecified immunodeficiency 68 +OMIM:612260 skos:exactMatch ORPHA:183713 Unspecified immunodeficiency 68 +OMIM:612261 skos:exactMatch UMLS:C2677091 Unspecified inflammatory bowel disease 17 +OMIM:147400 skos:exactMatch UMLS:C1409763 Unspecified incisors, shovel-shaped +OMIM:600269 skos:exactMatch UMLS:C1838328 Unspecified short tarsus with absence of lower eyelashes +OMIM:600268 skos:exactMatch UMLS:C1838329 Unspecified oculoectodermal syndrome +OMIM:600268 skos:exactMatch ORPHA:3339 Unspecified oculoectodermal syndrome +OMIM:600267 skos:exactMatch UMLS:C1419096 Unspecified PTPN13 +OMIM:600267 skos:exactMatch HGNC:9646 Unspecified PTPN13 +OMIM:600267 skos:exactMatch HGNC_symbol:PTPN13 Unspecified PTPN13 +OMIM:600266 skos:exactMatch UMLS:C2936833 Unspecified SLC11A1 +OMIM:600266 skos:exactMatch HGNC_symbol:SLC11A1 Unspecified SLC11A1 +OMIM:600266 skos:exactMatch UMLS:C1420088 Unspecified SLC11A1 +OMIM:600266 skos:exactMatch HGNC:10907 Unspecified SLC11A1 +OMIM:600266 skos:exactMatch UMLS:C1864868 Unspecified SLC11A1 +OMIM:600286 skos:exactMatch UMLS:C1418579 Unspecified PI4KA +OMIM:600286 skos:exactMatch HGNC_symbol:PI4KA Unspecified PI4KA +OMIM:600286 skos:exactMatch HGNC:8983 Unspecified PI4KA +OMIM:600285 skos:exactMatch HGNC:3477 Unspecified ETF1 +OMIM:600285 skos:exactMatch UMLS:C1414467 Unspecified ETF1 +OMIM:600285 skos:exactMatch HGNC_symbol:ETF1 Unspecified ETF1 +OMIM:600284 skos:exactMatch HGNC_symbol:ELL Unspecified ELL +OMIM:600284 skos:exactMatch UMLS:C1427925 Unspecified ELL +OMIM:600284 skos:exactMatch HGNC:23114 Unspecified ELL +OMIM:600283 skos:exactMatch HGNC:4583 Unspecified GRIK5 +OMIM:600283 skos:exactMatch HGNC_symbol:GRIK5 Unspecified GRIK5 +OMIM:600283 skos:exactMatch UMLS:C1415297 Unspecified GRIK5 +OMIM:600282 skos:exactMatch HGNC_symbol:GRIK4 Unspecified GRIK4 +OMIM:600282 skos:exactMatch UMLS:C1415296 Unspecified GRIK4 +OMIM:600282 skos:exactMatch HGNC:4582 Unspecified GRIK4 +OMIM:600281 skos:exactMatch UMLS:C0011860 Unspecified HNF4A +OMIM:600281 skos:exactMatch UMLS:C4014962 Unspecified HNF4A +OMIM:600281 skos:exactMatch UMLS:C1852093 Unspecified HNF4A +OMIM:600281 skos:exactMatch UMLS:C1415629 Unspecified HNF4A +OMIM:600281 skos:exactMatch HGNC:5024 Unspecified HNF4A +OMIM:600281 skos:exactMatch HGNC_symbol:HNF4A Unspecified HNF4A +OMIM:600280 skos:exactMatch UMLS:C1417872 Unspecified NUBP1 +OMIM:600280 skos:exactMatch HGNC:8041 Unspecified NUBP1 +OMIM:600280 skos:exactMatch HGNC_symbol:NUBP1 Unspecified NUBP1 +OMIM:612248 skos:exactMatch HGNC:30570 Unspecified ZNF627 +OMIM:612248 skos:exactMatch UMLS:C1538206 Unspecified ZNF627 +OMIM:612248 skos:exactMatch HGNC_symbol:ZNF627 Unspecified ZNF627 +OMIM:612249 skos:exactMatch HGNC_symbol:THSD7A Unspecified THSD7A +OMIM:612249 skos:exactMatch HGNC:22207 Unspecified THSD7A +OMIM:612249 skos:exactMatch UMLS:C1823277 Unspecified THSD7A +OMIM:612246 skos:exactMatch HGNC:30843 Unspecified CD302 +OMIM:612246 skos:exactMatch HGNC_symbol:CD302 Unspecified CD302 +OMIM:612246 skos:exactMatch UMLS:C1540296 Unspecified CD302 +OMIM:612247 skos:exactMatch UMLS:C2677099 Unspecified crouzon syndrome with acanthosis nigricans +OMIM:612244 skos:exactMatch UMLS:C2677101 Unspecified inflammatory bowel disease 13 +OMIM:612245 skos:exactMatch UMLS:C2677100 Unspecified inflammatory bowel disease 14 +OMIM:612253 skos:exactMatch UMLS:C2677096 Unspecified systemic lupus erythematosus, susceptibility to, 11 +OMIM:612254 skos:exactMatch UMLS:C2677095 Unspecified systemic lupus erythematosus, susceptibility to, 12 +OMIM:612251 skos:exactMatch UMLS:C2677097 Unspecified systemic lupus erythematosus, susceptibility to, 10 +OMIM:612252 skos:exactMatch HGNC_symbol:CLEC9A Unspecified CLEC9A +OMIM:612252 skos:exactMatch HGNC:26705 Unspecified CLEC9A +OMIM:612252 skos:exactMatch UMLS:C1539103 Unspecified CLEC9A +OMIM:612250 skos:exactMatch HGNC:23694 Unspecified None +OMIM:612250 skos:exactMatch UMLS:C1428198 Unspecified None +OMIM:612250 skos:exactMatch HGNC_symbol:GPR161 Unspecified None +OMIM:600279 skos:exactMatch HGNC_symbol:PEX19 Unspecified PEX19 +OMIM:600279 skos:exactMatch HGNC:9713 Unspecified PEX19 +OMIM:600279 skos:exactMatch UMLS:C1419147 Unspecified PEX19 +OMIM:600278 skos:exactMatch UMLS:C1826766 Unspecified RAP1GAP +OMIM:600278 skos:exactMatch HGNC_symbol:RAP1GAP Unspecified RAP1GAP +OMIM:600278 skos:exactMatch HGNC:9858 Unspecified RAP1GAP +OMIM:600277 skos:exactMatch HGNC:5362 Unspecified ID3 +OMIM:600277 skos:exactMatch UMLS:C1415856 Unspecified ID3 +OMIM:600277 skos:exactMatch HGNC_symbol:ID3 Unspecified ID3 +OMIM:600276 skos:exactMatch UMLS:C3809084 Unspecified NOTCH3 +OMIM:600276 skos:exactMatch UMLS:C1417768 Unspecified NOTCH3 +OMIM:600276 skos:exactMatch UMLS:C1851710 Unspecified NOTCH3 +OMIM:600276 skos:exactMatch HGNC_symbol:NOTCH3 Unspecified NOTCH3 +OMIM:600276 skos:exactMatch UMLS:C4551768 Unspecified NOTCH3 +OMIM:600276 skos:exactMatch HGNC:7883 Unspecified NOTCH3 +OMIM:159410 skos:exactMatch UMLS:C1834634 Unspecified mydriatic response to pharmacologic agents +OMIM:208870 skos:exactMatch UMLS:C0796056 Unspecified ataxia-microcephaly-cataract syndrome +OMIM:147421 skos:exactMatch UMLS:C0238190 Unspecified inclusion body myositis +OMIM:218200 skos:exactMatch UMLS:C1857530 Unspecified cranial nerves, recurrent paresis of +OMIM:159400 skos:exactMatch UMLS:C1834635 Unspecified myasthenia, limb-girdle, autoimmune +OMIM:159405 skos:exactMatch HGNC_symbol:MYBL1 Unspecified MYBL1 +OMIM:159405 skos:exactMatch UMLS:C0812292 Unspecified MYBL1 +OMIM:159405 skos:exactMatch HGNC:7547 Unspecified MYBL1 +OMIM:147430 skos:exactMatch UMLS:C1840219 Unspecified marsili syndrome +OMIM:147430 skos:exactMatch UMLS:C4538468 Unspecified marsili syndrome +OMIM:233810 skos:exactMatch UMLS:C1856242 Unspecified growth retardation, small and puffy hands and feet, and eczema +OMIM:147435 skos:exactMatch UMLS:C1416433 Unspecified IDO1 +OMIM:147435 skos:exactMatch HGNC_symbol:IDO1 Unspecified IDO1 +OMIM:147435 skos:exactMatch HGNC:6059 Unspecified IDO1 +OMIM:257800 skos:exactMatch UMLS:C0268496 Unspecified oculocerebral syndrome with hypopigmentation +OMIM:159430 skos:exactMatch HGNC_symbol:MBP Unspecified MBP +OMIM:159430 skos:exactMatch HGNC:6925 Unspecified MBP +OMIM:159430 skos:exactMatch UMLS:C1417057 Unspecified MBP +OMIM:172405 skos:exactMatch HGNC_symbol:PLN Unspecified PLN +OMIM:172405 skos:exactMatch UMLS:C1418650 Unspecified PLN +OMIM:172405 skos:exactMatch HGNC:9080 Unspecified PLN +OMIM:612299 skos:exactMatch UMLS:C1428439 Unspecified COMMD9 +OMIM:612299 skos:exactMatch HGNC_symbol:COMMD9 Unspecified COMMD9 +OMIM:612299 skos:exactMatch HGNC:25014 Unspecified COMMD9 +OMIM:147440 skos:exactMatch UMLS:C1334089 Unspecified IGF1 +OMIM:147440 skos:exactMatch HGNC_symbol:IGF1 Unspecified IGF1 +OMIM:147440 skos:exactMatch HGNC:5464 Unspecified IGF1 +OMIM:172400 skos:exactMatch UMLS:C1333690 Unspecified GPI +OMIM:172400 skos:exactMatch HGNC:4458 Unspecified GPI +OMIM:172400 skos:exactMatch HGNC_symbol:GPI Unspecified GPI +OMIM:159420 skos:exactMatch UMLS:C1303010 Unspecified mydriasis, congenital +OMIM:147460 skos:exactMatch HGNC_symbol:SOD2 Unspecified SOD2 +OMIM:147460 skos:exactMatch UMLS:C4016223 Unspecified SOD2 +OMIM:147460 skos:exactMatch HGNC:11180 Unspecified SOD2 +OMIM:147460 skos:exactMatch UMLS:C2675128 Unspecified SOD2 +OMIM:147460 skos:exactMatch UMLS:C1420307 Unspecified SOD2 +OMIM:147460 skos:exactMatch UMLS:C2986382 Unspecified SOD2 +OMIM:245800 skos:exactMatch UMLS:C0023138 Unspecified laurence-moon syndrome +OMIM:612288 skos:exactMatch UMLS:C2676781 Unspecified inflammatory bowel disease 20 +OMIM:612289 skos:exactMatch UMLS:C0345382 Unspecified fontaine progeroid syndrome +OMIM:612289 skos:exactMatch UMLS:C2676780 Unspecified fontaine progeroid syndrome +OMIM:612297 skos:exactMatch UMLS:C1824309 Unspecified C11ORF41 +OMIM:612297 skos:exactMatch HGNC_symbol:KIAA1549L Unspecified C11ORF41 +OMIM:612297 skos:exactMatch HGNC:24836 Unspecified C11ORF41 +OMIM:612298 skos:exactMatch HGNC_symbol:TRIM44 Unspecified TRIM44 +OMIM:612298 skos:exactMatch UMLS:C1425953 Unspecified TRIM44 +OMIM:612298 skos:exactMatch HGNC:19016 Unspecified TRIM44 +OMIM:612295 skos:exactMatch UMLS:C1824313 Unspecified ARL14EP +OMIM:612295 skos:exactMatch HGNC:26798 Unspecified ARL14EP +OMIM:612295 skos:exactMatch HGNC_symbol:ARL14EP Unspecified ARL14EP +OMIM:147450 skos:exactMatch HGNC_symbol:SOD1 Unspecified SOD1 +OMIM:147450 skos:exactMatch HGNC:11179 Unspecified SOD1 +OMIM:147450 skos:exactMatch UMLS:C1862939 Unspecified SOD1 +OMIM:147450 skos:exactMatch UMLS:C5231422 Unspecified SOD1 +OMIM:147450 skos:exactMatch UMLS:C3542025 Unspecified SOD1 +OMIM:147450 skos:exactMatch UMLS:C1420306 Unspecified SOD1 +OMIM:612296 skos:exactMatch HGNC_symbol:LINC00294 Unspecified LINC00294 +OMIM:612296 skos:exactMatch HGNC:27456 Unspecified LINC00294 +OMIM:612296 skos:exactMatch UMLS:C2676768 Unspecified LINC00294 +OMIM:612293 skos:exactMatch UMLS:C2676769 Unspecified porokeratosis 5, disseminated superficial actinic iia +OMIM:612294 skos:exactMatch HGNC:29899 Unspecified DEPDC7 +OMIM:612294 skos:exactMatch UMLS:C1824916 Unspecified DEPDC7 +OMIM:612294 skos:exactMatch HGNC_symbol:DEPDC7 Unspecified DEPDC7 +OMIM:612291 skos:exactMatch UMLS:C2676771 Unspecified joubert syndrome 8 +OMIM:612291 skos:exactMatch ORPHA:475 Unspecified joubert syndrome 8 +OMIM:612292 skos:exactMatch ORPHA:166108 Unspecified birk-barel syndrome +OMIM:612292 skos:exactMatch UMLS:C2676770 Unspecified birk-barel syndrome +OMIM:612290 skos:exactMatch UMLS:C2676772 Unspecified microtia, hearing impairment, and cleft palate +OMIM:612290 skos:exactMatch UMLS:C3808166 Unspecified microtia, hearing impairment, and cleft palate +OMIM:160565 skos:exactMatch UMLS:C4011726 Unspecified myopathy, tubular aggregate, 1 +OMIM:160565 skos:exactMatch UMLS:C0410207 Unspecified myopathy, tubular aggregate, 1 +OMIM:206400 skos:exactMatch UMLS:C1859785 Unspecified anemia, nonspherocytic hemolytic, possibly due to defect 1n porphyrin metabolism +OMIM:147584 skos:exactMatch HGNC_symbol:IFNA21 Unspecified IFNA21 +OMIM:147584 skos:exactMatch HGNC:5424 Unspecified IFNA21 +OMIM:147584 skos:exactMatch UMLS:C1415905 Unspecified IFNA21 +OMIM:147583 skos:exactMatch HGNC_symbol:IFNA17 Unspecified IFNA17 +OMIM:147583 skos:exactMatch HGNC:5422 Unspecified IFNA17 +OMIM:147583 skos:exactMatch UMLS:C1415904 Unspecified IFNA17 +OMIM:147582 skos:exactMatch UMLS:C1442498 Unspecified IREB2 +OMIM:147582 skos:exactMatch HGNC_symbol:IREB2 Unspecified IREB2 +OMIM:147582 skos:exactMatch HGNC:6115 Unspecified IREB2 +OMIM:147586 skos:exactMatch UMLS:C1415886 Unspecified IFI16 +OMIM:147586 skos:exactMatch HGNC:5395 Unspecified IFI16 +OMIM:147586 skos:exactMatch HGNC_symbol:IFI16 Unspecified IFI16 +OMIM:159580 skos:exactMatch UMLS:C0030481 Unspecified myelopathy, htlv-1-associated +OMIM:159595 skos:exactMatch UMLS:C1834582 Unspecified myeloproliferative syndrome, transient +OMIM:184510 skos:exactMatch UMLS:C1866650 Unspecified steatocystoma multiplex with natal teeth +OMIM:218400 skos:exactMatch UMLS:C2931244 Unspecified craniometaphyseal dysplasia, autosomal recessive +OMIM:160570 skos:exactMatch UMLS:C1834532 Unspecified myopathy with storage of glycoproteins and glycosaminoglycans +OMIM:123590 skos:exactMatch HGNC_symbol:CRYAB Unspecified CRYAB +OMIM:123590 skos:exactMatch UMLS:C0302254 Unspecified CRYAB +OMIM:123590 skos:exactMatch UMLS:C3151236 Unspecified CRYAB +OMIM:123590 skos:exactMatch UMLS:C4015992 Unspecified CRYAB +OMIM:123590 skos:exactMatch UMLS:C4015991 Unspecified CRYAB +OMIM:123590 skos:exactMatch UMLS:C1837317 Unspecified CRYAB +OMIM:123590 skos:exactMatch HGNC:2389 Unspecified CRYAB +OMIM:123590 skos:exactMatch UMLS:C3554649 Unspecified CRYAB +OMIM:123590 skos:exactMatch UMLS:C1439328 Unspecified CRYAB +OMIM:123580 skos:exactMatch UMLS:C1439327 Unspecified CRYAA +OMIM:123580 skos:exactMatch HGNC_symbol:CRYAA Unspecified CRYAA +OMIM:123580 skos:exactMatch HGNC:2388 Unspecified CRYAA +OMIM:159590 skos:exactMatch HGNC_symbol:CD33 Unspecified CD33 +OMIM:159590 skos:exactMatch UMLS:C1439292 Unspecified CD33 +OMIM:159590 skos:exactMatch HGNC:1659 Unspecified CD33 +OMIM:123570 skos:exactMatch UMLS:C1852453 Unspecified cryptophthalmos, unilateral or bilateral, isolated +OMIM:123560 skos:exactMatch UMLS:C1852454 Unspecified cryptomicrotia-brachydactyly syndrome +OMIM:123550 skos:exactMatch UMLS:C1852456 Unspecified cryoglobulinemia, familial mixed +OMIM:123557 skos:exactMatch UMLS:C1852455 Unspecified cryptotia, familial +OMIM:123540 skos:exactMatch UMLS:C1852457 Unspecified cryofibrinogenemia, familial primary +OMIM:302060 skos:exactMatch UMLS:C0574083 Unspecified barth syndrome +OMIM:314050 skos:exactMatch UMLS:C1839161 Unspecified thrombocytopenia with beta-thalassemia, X-linked +OMIM:302045 skos:exactMatch UMLS:C3668940 Unspecified cardiomyopathy, dilated, 3b +OMIM:123500 skos:exactMatch UMLS:C2931196 Unspecified crouzon syndrome +OMIM:600409 skos:exactMatch HGNC:9235 Unspecified PPARD +OMIM:600409 skos:exactMatch HGNC_symbol:PPARD Unspecified PPARD +OMIM:600409 skos:exactMatch UMLS:C1418778 Unspecified PPARD +OMIM:600408 skos:exactMatch HGNC:2730 Unspecified DDR1 +OMIM:600408 skos:exactMatch UMLS:C1333206 Unspecified DDR1 +OMIM:600408 skos:exactMatch HGNC_symbol:DDR1 Unspecified DDR1 +OMIM:600407 skos:exactMatch HGNC:9973 Unspecified RFC5 +OMIM:600407 skos:exactMatch HGNC_symbol:RFC5 Unspecified RFC5 +OMIM:600407 skos:exactMatch UMLS:C1419352 Unspecified RFC5 +OMIM:600405 skos:exactMatch HGNC:9971 Unspecified RFC3 +OMIM:600405 skos:exactMatch HGNC_symbol:RFC3 Unspecified RFC3 +OMIM:600405 skos:exactMatch UMLS:C1419350 Unspecified RFC3 +OMIM:600404 skos:exactMatch HGNC:9970 Unspecified RFC2 +OMIM:600404 skos:exactMatch HGNC_symbol:RFC2 Unspecified RFC2 +OMIM:600404 skos:exactMatch UMLS:C1419349 Unspecified RFC2 +OMIM:600403 skos:exactMatch HGNC:3590 Unspecified FAP +OMIM:600403 skos:exactMatch UMLS:C1366487 Unspecified FAP +OMIM:600403 skos:exactMatch HGNC_symbol:FAP Unspecified FAP +OMIM:600400 skos:exactMatch UMLS:C1418885 Unspecified PREP +OMIM:600400 skos:exactMatch HGNC_symbol:PREP Unspecified PREP +OMIM:600400 skos:exactMatch HGNC:9358 Unspecified PREP +OMIM:111500 skos:exactMatch UMLS:C1862206 Unspecified blood group--private systems +OMIM:600419 skos:exactMatch UMLS:C1838141 Unspecified angiokeratoma corporis diffusum with arteriovenous fistulas +OMIM:600418 skos:exactMatch UMLS:C1332086 Unspecified AMPH +OMIM:600418 skos:exactMatch HGNC_symbol:AMPH Unspecified AMPH +OMIM:600418 skos:exactMatch HGNC:471 Unspecified AMPH +OMIM:600417 skos:exactMatch HGNC_symbol:NT5C2 Unspecified NT5C2 +OMIM:600417 skos:exactMatch UMLS:C4016664 Unspecified NT5C2 +OMIM:600417 skos:exactMatch UMLS:C1417862 Unspecified NT5C2 +OMIM:600417 skos:exactMatch HGNC:8022 Unspecified NT5C2 +OMIM:600416 skos:exactMatch UMLS:C0410192 Unspecified muscular dystrophy, scapulohumeral +OMIM:600415 skos:exactMatch HGNC:12404 Unspecified TTPA +OMIM:600415 skos:exactMatch HGNC_symbol:TTPA Unspecified TTPA +OMIM:600415 skos:exactMatch UMLS:C1421223 Unspecified TTPA +OMIM:600414 skos:exactMatch UMLS:C1419151 Unspecified PEX5 +OMIM:600414 skos:exactMatch HGNC_symbol:PEX5 Unspecified PEX5 +OMIM:600414 skos:exactMatch HGNC:9719 Unspecified PEX5 +OMIM:600413 skos:exactMatch HGNC_symbol:GBP3 Unspecified GBP3 +OMIM:600413 skos:exactMatch HGNC:4184 Unspecified GBP3 +OMIM:600413 skos:exactMatch UMLS:C1415005 Unspecified GBP3 +OMIM:600412 skos:exactMatch HGNC_symbol:GBP2 Unspecified GBP2 +OMIM:600412 skos:exactMatch HGNC:4183 Unspecified GBP2 +OMIM:600412 skos:exactMatch UMLS:C1415004 Unspecified GBP2 +OMIM:600411 skos:exactMatch HGNC_symbol:GBP1 Unspecified GBP1 +OMIM:600411 skos:exactMatch HGNC:4182 Unspecified GBP1 +OMIM:600411 skos:exactMatch UMLS:C1415003 Unspecified GBP1 +OMIM:600410 skos:exactMatch HGNC:11898 Unspecified TNFAIP6 +OMIM:600410 skos:exactMatch UMLS:C1420801 Unspecified TNFAIP6 +OMIM:600410 skos:exactMatch HGNC_symbol:TNFAIP6 Unspecified TNFAIP6 +OMIM:424500 skos:exactMatch UMLS:C0206661 Unspecified gonadoblastoma +OMIM:602993 skos:exactMatch UMLS:C1416773 Unspecified LAIR2 +OMIM:602993 skos:exactMatch HGNC:6478 Unspecified LAIR2 +OMIM:602993 skos:exactMatch HGNC_symbol:LAIR2 Unspecified LAIR2 +OMIM:602994 skos:exactMatch UMLS:C1864303 Unspecified leukoregulin +OMIM:602995 skos:exactMatch HGNC_symbol:UBE2V1 Unspecified UBE2V1 +OMIM:602995 skos:exactMatch HGNC:12494 Unspecified UBE2V1 +OMIM:602995 skos:exactMatch UMLS:C1421291 Unspecified UBE2V1 +OMIM:602996 skos:exactMatch UMLS:C1415884 Unspecified IER3 +OMIM:602996 skos:exactMatch HGNC_symbol:IER3 Unspecified IER3 +OMIM:602996 skos:exactMatch HGNC:5392 Unspecified IER3 +OMIM:602997 skos:exactMatch HGNC:2548 Unspecified CUBN +OMIM:602997 skos:exactMatch UMLS:C1413823 Unspecified CUBN +OMIM:602997 skos:exactMatch UMLS:C5394384 Unspecified CUBN +OMIM:602997 skos:exactMatch UMLS:C4551825 Unspecified CUBN +OMIM:602997 skos:exactMatch HGNC_symbol:CUBN Unspecified CUBN +OMIM:602998 skos:exactMatch UMLS:C1335851 Unspecified SNCG +OMIM:602998 skos:exactMatch HGNC_symbol:SNCG Unspecified SNCG +OMIM:602998 skos:exactMatch HGNC:11141 Unspecified SNCG +OMIM:602999 skos:exactMatch HGNC_symbol:PPP1R3C Unspecified PPP1R3C +OMIM:602999 skos:exactMatch HGNC:9293 Unspecified PPP1R3C +OMIM:602999 skos:exactMatch UMLS:C1418830 Unspecified PPP1R3C +OMIM:612318 skos:exactMatch UMLS:C0549150 Unspecified pseudofolliculitis barbae +OMIM:612319 skos:exactMatch UMLS:C3668943 Unspecified spastic paraplegia 35, autosomal recessive, with or without neurodegeneration +OMIM:612319 skos:exactMatch ORPHA:171629 Unspecified spastic paraplegia 35, autosomal recessive, with or without neurodegeneration +OMIM:612319 skos:exactMatch UMLS:C3496228 Unspecified spastic paraplegia 35, autosomal recessive, with or without neurodegeneration +OMIM:612319 skos:exactMatch ORPHA:329308 Unspecified spastic paraplegia 35, autosomal recessive, with or without neurodegeneration +OMIM:614979 skos:exactMatch UMLS:C3554278 Unspecified retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome +OMIM:614979 skos:exactMatch ORPHA:313800 Unspecified retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome +OMIM:612316 skos:exactMatch UMLS:C1428501 Unspecified ATAD3A +OMIM:612316 skos:exactMatch HGNC_symbol:ATAD3A Unspecified ATAD3A +OMIM:612316 skos:exactMatch UMLS:C5394137 Unspecified ATAD3A +OMIM:612316 skos:exactMatch UMLS:C4310677 Unspecified ATAD3A +OMIM:612316 skos:exactMatch HGNC:25567 Unspecified ATAD3A +OMIM:612316 skos:exactMatch UMLS:C4310856 Unspecified ATAD3A +OMIM:614978 skos:exactMatch UMLS:C3554277 Unspecified LINC01082 +OMIM:614978 skos:exactMatch HGNC_symbol:LINC01082 Unspecified LINC01082 +OMIM:614978 skos:exactMatch HGNC:49125 Unspecified LINC01082 +OMIM:612317 skos:exactMatch UMLS:C1428335 Unspecified ATAD3B +OMIM:612317 skos:exactMatch HGNC_symbol:ATAD3B Unspecified ATAD3B +OMIM:612317 skos:exactMatch HGNC:24007 Unspecified ATAD3B +OMIM:614977 skos:exactMatch UMLS:C3554276 Unspecified LINC01081 +OMIM:614977 skos:exactMatch HGNC_symbol:LINC01081 Unspecified LINC01081 +OMIM:614977 skos:exactMatch HGNC:49124 Unspecified LINC01081 +OMIM:612314 skos:exactMatch HGNC_symbol:GSTO2 Unspecified GSTO2 +OMIM:612314 skos:exactMatch UMLS:C1427885 Unspecified GSTO2 +OMIM:612314 skos:exactMatch HGNC:23064 Unspecified GSTO2 +OMIM:612315 skos:exactMatch HGNC:20406 Unspecified KRT6C +OMIM:612315 skos:exactMatch UMLS:C1426919 Unspecified KRT6C +OMIM:612315 skos:exactMatch HGNC_symbol:KRT6C Unspecified KRT6C +OMIM:614976 skos:exactMatch UMLS:C3554247 Unspecified carpenter syndrome 2 +OMIM:612312 skos:exactMatch UMLS:C2676740 Unspecified attention deficit-hyperactivity disorder, susceptibility to, 6 +OMIM:614975 skos:exactMatch HGNC_symbol:FENDRR Unspecified FENDRR +OMIM:614975 skos:exactMatch UMLS:C3540317 Unspecified FENDRR +OMIM:614975 skos:exactMatch HGNC:43894 Unspecified FENDRR +OMIM:614974 skos:exactMatch UMLS:C3554246 Unspecified focal facial dermal dysplasia 4 +OMIM:612313 skos:exactMatch UMLS:C2676739 Unspecified glass syndrome +OMIM:612310 skos:exactMatch UMLS:C2676742 Unspecified premature ovarian failure 6 +OMIM:614973 skos:exactMatch UMLS:C3554245 Unspecified focal facial dermal dysplasia 2, brauer-setleis iia +OMIM:614972 skos:exactMatch UMLS:C3554241 Unspecified cholestasis, intrahepatic, of pregnancy 3 +OMIM:612311 skos:exactMatch UMLS:C2676741 Unspecified attention deficit-hyperactivity disorder, susceptibility to, 5 +OMIM:614982 skos:exactMatch UMLS:C1539789 Unspecified SMCHD1 +OMIM:614982 skos:exactMatch HGNC_symbol:SMCHD1 Unspecified SMCHD1 +OMIM:614982 skos:exactMatch HGNC:29090 Unspecified SMCHD1 +OMIM:614981 skos:exactMatch HGNC:871 Unspecified ATPIF1 +OMIM:614981 skos:exactMatch UMLS:C1412690 Unspecified ATPIF1 +OMIM:614981 skos:exactMatch HGNC_symbol:ATP5IF1 Unspecified ATPIF1 +OMIM:612320 skos:exactMatch UMLS:C1824686 Unspecified CDCP2 +OMIM:612320 skos:exactMatch HGNC:27297 Unspecified CDCP2 +OMIM:612320 skos:exactMatch HGNC_symbol:CDCP2 Unspecified CDCP2 +OMIM:614980 skos:exactMatch UMLS:C3554279 Unspecified congenital heart defects, multiple types, 2 +OMIM:600329 skos:exactMatch UMLS:C1838258 Unspecified osteopetrosis and infantile neuroaxonal dystrophy +OMIM:600328 skos:exactMatch HGNC:7138 Unspecified MLLT6 +OMIM:600328 skos:exactMatch UMLS:C1334517 Unspecified MLLT6 +OMIM:600328 skos:exactMatch HGNC_symbol:MLLT6 Unspecified MLLT6 +OMIM:600327 skos:exactMatch HGNC:11511 Unspecified SYT3 +OMIM:600327 skos:exactMatch HGNC_symbol:SYT3 Unspecified SYT3 +OMIM:600327 skos:exactMatch UMLS:C1420558 Unspecified SYT3 +OMIM:600326 skos:exactMatch UMLS:C0812257 Unspecified DDX6 +OMIM:600326 skos:exactMatch HGNC_symbol:DDX6 Unspecified DDX6 +OMIM:600326 skos:exactMatch HGNC:2747 Unspecified DDX6 +OMIM:600326 skos:exactMatch UMLS:C5231444 Unspecified DDX6 +OMIM:600325 skos:exactMatch UMLS:C0795939 Unspecified aminopterin syndrome sine aminopterin +OMIM:600324 skos:exactMatch HGNC:10642 Unspecified CXCL5 +OMIM:600324 skos:exactMatch HGNC_symbol:CXCL5 Unspecified CXCL5 +OMIM:600324 skos:exactMatch UMLS:C1332819 Unspecified CXCL5 +OMIM:600323 skos:exactMatch UMLS:C1366525 Unspecified RGS1 +OMIM:600323 skos:exactMatch HGNC:9991 Unspecified RGS1 +OMIM:600323 skos:exactMatch HGNC_symbol:RGS1 Unspecified RGS1 +OMIM:600322 skos:exactMatch UMLS:C1420270 Unspecified SNAP25 +OMIM:600322 skos:exactMatch HGNC:11132 Unspecified SNAP25 +OMIM:600322 skos:exactMatch HGNC_symbol:SNAP25 Unspecified SNAP25 +OMIM:600322 skos:exactMatch UMLS:C4225364 Unspecified SNAP25 +OMIM:600321 skos:exactMatch UMLS:C1838259 Unspecified iia 1 diabetes mellitus 7 +OMIM:600320 skos:exactMatch UMLS:C1838260 Unspecified iia 1 diabetes mellitus 5 +OMIM:600341 skos:exactMatch HGNC_symbol:TYRO3 Unspecified TYRO3 +OMIM:600341 skos:exactMatch HGNC:12446 Unspecified TYRO3 +OMIM:600341 skos:exactMatch UMLS:C1367457 Unspecified TYRO3 +OMIM:602982 skos:exactMatch UMLS:C1416608 Unspecified KCNN1 +OMIM:602982 skos:exactMatch HGNC_symbol:KCNN1 Unspecified KCNN1 +OMIM:602982 skos:exactMatch HGNC:6290 Unspecified KCNN1 +OMIM:602983 skos:exactMatch UMLS:C1416610 Unspecified KCNN3 +OMIM:602983 skos:exactMatch HGNC_symbol:KCNN3 Unspecified KCNN3 +OMIM:602983 skos:exactMatch HGNC:6292 Unspecified KCNN3 +OMIM:600340 skos:exactMatch UMLS:C1538680 Unspecified PLLP +OMIM:600340 skos:exactMatch HGNC_symbol:PLLP Unspecified PLLP +OMIM:600340 skos:exactMatch HGNC:18553 Unspecified PLLP +OMIM:602984 skos:exactMatch HGNC:19970 Unspecified MED6 +OMIM:602984 skos:exactMatch HGNC_symbol:MED6 Unspecified MED6 +OMIM:602984 skos:exactMatch UMLS:C1334499 Unspecified MED6 +OMIM:602985 skos:exactMatch UMLS:C1417645 Unspecified NDUFS2 +OMIM:602985 skos:exactMatch HGNC_symbol:NDUFS2 Unspecified NDUFS2 +OMIM:602985 skos:exactMatch HGNC:7708 Unspecified NDUFS2 +OMIM:612309 skos:exactMatch HGNC:3542 Unspecified F5 +OMIM:612309 skos:exactMatch HGNC_symbol:F5 Unspecified F5 +OMIM:612309 skos:exactMatch UMLS:C1414509 Unspecified F5 +OMIM:602986 skos:exactMatch UMLS:C1414152 Unspecified DRG2 +OMIM:602986 skos:exactMatch HGNC_symbol:DRG2 Unspecified DRG2 +OMIM:602986 skos:exactMatch HGNC:3030 Unspecified DRG2 +OMIM:602987 skos:exactMatch HGNC_symbol:PDE1C Unspecified PDE1C +OMIM:602987 skos:exactMatch HGNC:8776 Unspecified PDE1C +OMIM:602987 skos:exactMatch UMLS:C1418416 Unspecified PDE1C +OMIM:612307 skos:exactMatch HGNC:19241 Unspecified ADGRG7 +OMIM:612307 skos:exactMatch HGNC_symbol:ADGRG7 Unspecified ADGRG7 +OMIM:612307 skos:exactMatch UMLS:C1426108 Unspecified ADGRG7 +OMIM:602988 skos:exactMatch HGNC_symbol:PCDH7 Unspecified PCDH7 +OMIM:602988 skos:exactMatch HGNC:8659 Unspecified PCDH7 +OMIM:602988 skos:exactMatch UMLS:C1418308 Unspecified PCDH7 +OMIM:602989 skos:exactMatch HGNC:2069 Unspecified CLK2 +OMIM:602989 skos:exactMatch UMLS:C1413490 Unspecified CLK2 +OMIM:602989 skos:exactMatch HGNC_symbol:CLK2 Unspecified CLK2 +OMIM:612308 skos:exactMatch HGNC:23847 Unspecified ZBTB4 +OMIM:612308 skos:exactMatch HGNC_symbol:ZBTB4 Unspecified ZBTB4 +OMIM:612308 skos:exactMatch UMLS:C1428295 Unspecified ZBTB4 +OMIM:614969 skos:exactMatch UMLS:C3554226 Unspecified pontocerebellar hypoplasia, iia 7 +OMIM:612305 skos:exactMatch HGNC:19240 Unspecified ADGRE4P +OMIM:612305 skos:exactMatch HGNC_symbol:ADGRE4P Unspecified ADGRE4P +OMIM:612305 skos:exactMatch UMLS:C1426107 Unspecified ADGRE4P +OMIM:614968 skos:exactMatch UMLS:C1539763 Unspecified SH2D4A +OMIM:614968 skos:exactMatch HGNC_symbol:SH2D4A Unspecified SH2D4A +OMIM:614968 skos:exactMatch HGNC:26102 Unspecified SH2D4A +OMIM:612306 skos:exactMatch UMLS:C2676758 Unspecified thyroid-stimulating hormone level quantitative trait locus 1 +OMIM:614967 skos:exactMatch UMLS:C1428972 Unspecified SCRN3 +OMIM:614967 skos:exactMatch HGNC:30382 Unspecified SCRN3 +OMIM:614967 skos:exactMatch HGNC_symbol:SCRN3 Unspecified SCRN3 +OMIM:612303 skos:exactMatch HGNC_symbol:ADGRA3 Unspecified ADGRA3 +OMIM:612303 skos:exactMatch HGNC:13839 Unspecified ADGRA3 +OMIM:612303 skos:exactMatch UMLS:C1422226 Unspecified ADGRA3 +OMIM:614966 skos:exactMatch UMLS:C1428971 Unspecified SCRN2 +OMIM:614966 skos:exactMatch HGNC:30381 Unspecified SCRN2 +OMIM:614966 skos:exactMatch HGNC_symbol:SCRN2 Unspecified SCRN2 +OMIM:612304 skos:exactMatch UMLS:C2676759 Unspecified thrombophilia due to protein c deficiency, autosomal recessive +OMIM:614965 skos:exactMatch HGNC:22192 Unspecified SCRN1 +OMIM:614965 skos:exactMatch UMLS:C1427758 Unspecified SCRN1 +OMIM:614965 skos:exactMatch HGNC_symbol:SCRN1 Unspecified SCRN1 +OMIM:612301 skos:exactMatch UMLS:C2676766 Unspecified osteopetrosis, autosomal recessive 7 +OMIM:614964 skos:exactMatch HGNC_symbol:ELFN1 Unspecified ELFN1 +OMIM:614964 skos:exactMatch HGNC:33154 Unspecified ELFN1 +OMIM:614964 skos:exactMatch UMLS:C2239386 Unspecified ELFN1 +OMIM:614963 skos:exactMatch UMLS:C3554225 Unspecified leptin receptor deficiency +OMIM:612302 skos:exactMatch HGNC_symbol:ADGRA1 Unspecified ADGRA1 +OMIM:612302 skos:exactMatch HGNC:13838 Unspecified ADGRA1 +OMIM:612302 skos:exactMatch UMLS:C1422225 Unspecified ADGRA1 +OMIM:614962 skos:exactMatch UMLS:C3554224 Unspecified leptin deficiency or dysfunction +OMIM:614961 skos:exactMatch UMLS:C3554209 Unspecified pontocerebellar hypoplasia, iia 8 +OMIM:612300 skos:exactMatch UMLS:C2676767 Unspecified hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy +OMIM:614971 skos:exactMatch HGNC:26066 Unspecified TUG1 +OMIM:614971 skos:exactMatch UMLS:C2681088 Unspecified TUG1 +OMIM:614971 skos:exactMatch HGNC_symbol:TUG1 Unspecified TUG1 +OMIM:614970 skos:exactMatch UMLS:C3554235 Unspecified joubert syndrome 20 +OMIM:600339 skos:exactMatch HGNC:4856 Unspecified HDGF +OMIM:600339 skos:exactMatch UMLS:C1415506 Unspecified HDGF +OMIM:600339 skos:exactMatch HGNC_symbol:HDGF Unspecified HDGF +OMIM:600338 skos:exactMatch HGNC_symbol:AADAC Unspecified AADAC +OMIM:600338 skos:exactMatch HGNC:17 Unspecified AADAC +OMIM:600338 skos:exactMatch UMLS:C1412051 Unspecified AADAC +OMIM:600337 skos:exactMatch HGNC_symbol:BDKRB1 Unspecified BDKRB1 +OMIM:600337 skos:exactMatch HGNC:1029 Unspecified BDKRB1 +OMIM:600337 skos:exactMatch UMLS:C1439290 Unspecified BDKRB1 +OMIM:600336 skos:exactMatch HGNC_symbol:SLC18A3 Unspecified SLC18A3 +OMIM:600336 skos:exactMatch UMLS:C1420116 Unspecified SLC18A3 +OMIM:600336 skos:exactMatch HGNC:10936 Unspecified SLC18A3 +OMIM:600335 skos:exactMatch UMLS:C1838243 Unspecified succinic acidemia +OMIM:600334 skos:exactMatch UMLS:C1838244 Unspecified tibial muscular dystrophy, tardive +OMIM:602990 skos:exactMatch UMLS:C1413492 Unspecified CLK3 +OMIM:602990 skos:exactMatch HGNC_symbol:CLK3 Unspecified CLK3 +OMIM:602990 skos:exactMatch HGNC:2071 Unspecified CLK3 +OMIM:600333 skos:exactMatch UMLS:C1838253 Unspecified motor neuron disease with dementia and ophthalmoplegia +OMIM:602991 skos:exactMatch UMLS:C1866656 Unspecified NOG +OMIM:602991 skos:exactMatch UMLS:C1969652 Unspecified NOG +OMIM:602991 skos:exactMatch HGNC_symbol:NOG Unspecified NOG +OMIM:602991 skos:exactMatch HGNC:7866 Unspecified NOG +OMIM:602991 skos:exactMatch UMLS:C1861305 Unspecified NOG +OMIM:602991 skos:exactMatch UMLS:C3714899 Unspecified NOG +OMIM:602991 skos:exactMatch UMLS:C0342282 Unspecified NOG +OMIM:602991 skos:exactMatch UMLS:C1417753 Unspecified NOG +OMIM:600332 skos:exactMatch UMLS:C1838254 Unspecified rippling muscle disease 1 +OMIM:602992 skos:exactMatch HGNC_symbol:LAIR1 Unspecified LAIR1 +OMIM:602992 skos:exactMatch HGNC:6477 Unspecified LAIR1 +OMIM:602992 skos:exactMatch UMLS:C1416772 Unspecified LAIR1 +OMIM:600331 skos:exactMatch UMLS:C1838256 Unspecified parc syndrome +OMIM:602971 skos:exactMatch UMLS:C1420595 Unspecified TBCC +OMIM:602971 skos:exactMatch HGNC_symbol:TBCC Unspecified TBCC +OMIM:602971 skos:exactMatch HGNC:11580 Unspecified TBCC +OMIM:602972 skos:exactMatch HGNC_symbol:PDE8A Unspecified PDE8A +OMIM:602972 skos:exactMatch HGNC:8793 Unspecified PDE8A +OMIM:602972 skos:exactMatch UMLS:C1418433 Unspecified PDE8A +OMIM:304730 skos:exactMatch UMLS:C1844671 Unspecified dermoids of cornea +OMIM:602973 skos:exactMatch HGNC_symbol:PDE9A Unspecified PDE9A +OMIM:602973 skos:exactMatch HGNC:8795 Unspecified PDE9A +OMIM:602973 skos:exactMatch UMLS:C1418435 Unspecified PDE9A +OMIM:602974 skos:exactMatch HGNC:640 Unspecified AQP7 +OMIM:602974 skos:exactMatch UMLS:C1412497 Unspecified AQP7 +OMIM:602974 skos:exactMatch HGNC_symbol:AQP7 Unspecified AQP7 +OMIM:602976 skos:exactMatch HGNC:11645 Unspecified MLX +OMIM:602976 skos:exactMatch UMLS:C1537926 Unspecified MLX +OMIM:602976 skos:exactMatch HGNC_symbol:MLX Unspecified MLX +OMIM:614959 skos:exactMatch UMLS:C3554195 Unspecified developmental and epileptic encephalopathy 14 +OMIM:614959 skos:exactMatch ORPHA:293181 Unspecified developmental and epileptic encephalopathy 14 +OMIM:602977 skos:exactMatch HGNC:4441 Unspecified GP2 +OMIM:602977 skos:exactMatch UMLS:C1415188 Unspecified GP2 +OMIM:602977 skos:exactMatch HGNC_symbol:GP2 Unspecified GP2 +OMIM:602978 skos:exactMatch HGNC_symbol:PHC1 Unspecified PHC1 +OMIM:602978 skos:exactMatch HGNC:3182 Unspecified PHC1 +OMIM:602978 skos:exactMatch UMLS:C1414264 Unspecified PHC1 +OMIM:614958 skos:exactMatch HGNC:32689 Unspecified SLFN14 +OMIM:614958 skos:exactMatch UMLS:C1822771 Unspecified SLFN14 +OMIM:614958 skos:exactMatch HGNC_symbol:SLFN14 Unspecified SLFN14 +OMIM:614957 skos:exactMatch HGNC_symbol:SLFN13 Unspecified SLFN13 +OMIM:614957 skos:exactMatch UMLS:C1822770 Unspecified SLFN13 +OMIM:614957 skos:exactMatch HGNC:26481 Unspecified SLFN13 +OMIM:602979 skos:exactMatch HGNC_symbol:PHC2 Unspecified PHC2 +OMIM:602979 skos:exactMatch HGNC:3183 Unspecified PHC2 +OMIM:602979 skos:exactMatch UMLS:C1414265 Unspecified PHC2 +OMIM:614956 skos:exactMatch UMLS:C2239936 Unspecified SLFN12L +OMIM:614956 skos:exactMatch HGNC_symbol:SLFN12L Unspecified SLFN12L +OMIM:614956 skos:exactMatch HGNC:33920 Unspecified SLFN12L +OMIM:614955 skos:exactMatch HGNC_symbol:SLFN12 Unspecified SLFN12 +OMIM:614955 skos:exactMatch UMLS:C1822769 Unspecified SLFN12 +OMIM:614955 skos:exactMatch HGNC:25500 Unspecified SLFN12 +OMIM:614954 skos:exactMatch UMLS:C3554194 Unspecified congenital heart defects, multiple types, 3 +OMIM:614953 skos:exactMatch HGNC_symbol:SLFN11 Unspecified SLFN11 +OMIM:614953 skos:exactMatch UMLS:C1822768 Unspecified SLFN11 +OMIM:614953 skos:exactMatch HGNC:26633 Unspecified SLFN11 +OMIM:614952 skos:exactMatch HGNC:28286 Unspecified SLFN5 +OMIM:614952 skos:exactMatch HGNC_symbol:SLFN5 Unspecified SLFN5 +OMIM:614952 skos:exactMatch UMLS:C1822767 Unspecified SLFN5 +OMIM:614951 skos:exactMatch HGNC_symbol:HEATR3 Unspecified HEATR3 +OMIM:614951 skos:exactMatch UMLS:C1825455 Unspecified HEATR3 +OMIM:614951 skos:exactMatch HGNC:26087 Unspecified HEATR3 +OMIM:614950 skos:exactMatch UMLS:C1428612 Unspecified TMEM17 +OMIM:614950 skos:exactMatch HGNC_symbol:TMEM17 Unspecified TMEM17 +OMIM:614950 skos:exactMatch HGNC:26623 Unspecified TMEM17 +OMIM:614960 skos:exactMatch UMLS:C2678560 Unspecified PLD6 +OMIM:614960 skos:exactMatch HGNC:30447 Unspecified PLD6 +OMIM:614960 skos:exactMatch HGNC_symbol:PLD6 Unspecified PLD6 +OMIM:600309 skos:exactMatch UMLS:C3275750 Unspecified atrioventricular septal defect 3 +OMIM:600308 skos:exactMatch UMLS:C1412494 Unspecified AQP4 +OMIM:600308 skos:exactMatch HGNC_symbol:AQP4 Unspecified AQP4 +OMIM:600308 skos:exactMatch HGNC:637 Unspecified AQP4 +OMIM:600307 skos:exactMatch UMLS:C1419016 Unspecified PSMB6 +OMIM:600307 skos:exactMatch HGNC_symbol:PSMB6 Unspecified PSMB6 +OMIM:600307 skos:exactMatch HGNC:9543 Unspecified PSMB6 +OMIM:600306 skos:exactMatch UMLS:C1419015 Unspecified PSMB5 +OMIM:600306 skos:exactMatch HGNC_symbol:PSMB5 Unspecified PSMB5 +OMIM:600306 skos:exactMatch HGNC:9542 Unspecified PSMB5 +OMIM:600305 skos:exactMatch HGNC_symbol:ECI1 Unspecified ECI1 +OMIM:600305 skos:exactMatch HGNC:2703 Unspecified ECI1 +OMIM:600305 skos:exactMatch UMLS:C1413929 Unspecified ECI1 +OMIM:600303 skos:exactMatch HGNC:4568 Unspecified RAPGEF1 +OMIM:600303 skos:exactMatch UMLS:C1415285 Unspecified RAPGEF1 +OMIM:600303 skos:exactMatch HGNC_symbol:RAPGEF1 Unspecified RAPGEF1 +OMIM:600302 skos:exactMatch UMLS:C1838281 Unspecified fryns macrocephaly +OMIM:600301 skos:exactMatch HGNC_symbol:ACADSB Unspecified ACADSB +OMIM:600301 skos:exactMatch HGNC:91 Unspecified ACADSB +OMIM:600301 skos:exactMatch UMLS:C1412109 Unspecified ACADSB +OMIM:600301 skos:exactMatch UMLS:C1864912 Unspecified ACADSB +OMIM:600300 skos:exactMatch HGNC_symbol:SLC1A2 Unspecified SLC1A2 +OMIM:600300 skos:exactMatch UMLS:C1420120 Unspecified SLC1A2 +OMIM:600300 skos:exactMatch HGNC:10940 Unspecified SLC1A2 +OMIM:600300 skos:exactMatch UMLS:C4310717 Unspecified SLC1A2 +OMIM:602980 skos:exactMatch HGNC:11306 Unspecified SRPK2 +OMIM:602980 skos:exactMatch HGNC_symbol:SRPK2 Unspecified SRPK2 +OMIM:602980 skos:exactMatch UMLS:C1420413 Unspecified SRPK2 +OMIM:602981 skos:exactMatch HGNC:303 Unspecified AEBP1 +OMIM:602981 skos:exactMatch UMLS:C1412266 Unspecified AEBP1 +OMIM:602981 skos:exactMatch HGNC_symbol:AEBP1 Unspecified AEBP1 +OMIM:602961 skos:exactMatch UMLS:C1421273 Unspecified UBE2D1 +OMIM:602961 skos:exactMatch HGNC_symbol:UBE2D1 Unspecified UBE2D1 +OMIM:602961 skos:exactMatch HGNC:12474 Unspecified UBE2D1 +OMIM:602962 skos:exactMatch UMLS:C1421274 Unspecified UBE2D2 +OMIM:602962 skos:exactMatch HGNC_symbol:UBE2D2 Unspecified UBE2D2 +OMIM:602962 skos:exactMatch HGNC:12475 Unspecified UBE2D2 +OMIM:602963 skos:exactMatch UMLS:C1421275 Unspecified UBE2D3 +OMIM:602963 skos:exactMatch HGNC_symbol:UBE2D3 Unspecified UBE2D3 +OMIM:602963 skos:exactMatch HGNC:12476 Unspecified UBE2D3 +OMIM:602964 skos:exactMatch UMLS:C1421206 Unspecified TSNAX +OMIM:602964 skos:exactMatch HGNC_symbol:TSNAX Unspecified TSNAX +OMIM:602964 skos:exactMatch HGNC:12380 Unspecified TSNAX +OMIM:614949 skos:exactMatch HGNC_symbol:TMEM231 Unspecified TMEM231 +OMIM:614949 skos:exactMatch HGNC:37234 Unspecified TMEM231 +OMIM:614949 skos:exactMatch UMLS:C2828877 Unspecified TMEM231 +OMIM:602965 skos:exactMatch HGNC:3562 Unspecified FABP7 +OMIM:602965 skos:exactMatch UMLS:C1414516 Unspecified FABP7 +OMIM:602965 skos:exactMatch HGNC_symbol:FABP7 Unspecified FABP7 +OMIM:614948 skos:exactMatch HGNC:25187 Unspecified TAMM41 +OMIM:614948 skos:exactMatch HGNC_symbol:TAMM41 Unspecified TAMM41 +OMIM:614948 skos:exactMatch UMLS:C3469951 Unspecified TAMM41 +OMIM:602966 skos:exactMatch ORPHA:199306 Unspecified orofacial cleft 2 +OMIM:602966 skos:exactMatch ORPHA:199302 Unspecified orofacial cleft 2 +OMIM:602966 skos:exactMatch UMLS:C1864323 Unspecified orofacial cleft 2 +OMIM:602966 skos:exactMatch ORPHA:141291 Unspecified orofacial cleft 2 +OMIM:602967 skos:exactMatch HGNC_symbol:ZNF217 Unspecified ZNF217 +OMIM:602967 skos:exactMatch UMLS:C1421705 Unspecified ZNF217 +OMIM:602967 skos:exactMatch HGNC:13009 Unspecified ZNF217 +OMIM:614947 skos:exactMatch UMLS:C3554182 Unspecified combined oxidative phosphorylation deficiency 15 +OMIM:602968 skos:exactMatch UMLS:C1332387 Unspecified BCAS1 +OMIM:602968 skos:exactMatch HGNC_symbol:BCAS1 Unspecified BCAS1 +OMIM:602968 skos:exactMatch HGNC:974 Unspecified BCAS1 +OMIM:614946 skos:exactMatch UMLS:C3554168 Unspecified combined oxidative phosphorylation deficiency 14 +OMIM:602969 skos:exactMatch HGNC_symbol:ESRRG Unspecified ESRRG +OMIM:602969 skos:exactMatch HGNC:3474 Unspecified ESRRG +OMIM:602969 skos:exactMatch UMLS:C1414466 Unspecified ESRRG +OMIM:614945 skos:exactMatch UMLS:C3554163 Unspecified deafness, autosomal recessive 18b +OMIM:614944 skos:exactMatch UMLS:C3554159 Unspecified deafness, autosomal recessive 84b +OMIM:614943 skos:exactMatch HGNC_symbol:TRIAP1 Unspecified TRIAP1 +OMIM:614943 skos:exactMatch UMLS:C1823486 Unspecified TRIAP1 +OMIM:614943 skos:exactMatch HGNC:26937 Unspecified TRIAP1 +OMIM:614942 skos:exactMatch HGNC_symbol:PGS1 Unspecified PGS1 +OMIM:614942 skos:exactMatch UMLS:C1826574 Unspecified PGS1 +OMIM:614942 skos:exactMatch HGNC:30029 Unspecified PGS1 +OMIM:614941 skos:exactMatch UMLS:C3539920 Unspecified ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive +OMIM:614940 skos:exactMatch UMLS:C3541517 Unspecified ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant +OMIM:600319 skos:exactMatch UMLS:C1838261 Unspecified iia 1 diabetes mellitus 4 +OMIM:600318 skos:exactMatch UMLS:C1838262 Unspecified iia 1 diabetes mellitus 3 +OMIM:600317 skos:exactMatch UMLS:C1420875 Unspecified TPM4 +OMIM:600317 skos:exactMatch HGNC:12013 Unspecified TPM4 +OMIM:600317 skos:exactMatch HGNC_symbol:TPM4 Unspecified TPM4 +OMIM:600316 skos:exactMatch UMLS:C1838263 Unspecified deafness, autosomal recessive 3 +OMIM:600315 skos:exactMatch HGNC:11918 Unspecified TNFRSF4 +OMIM:600315 skos:exactMatch UMLS:C1420812 Unspecified TNFRSF4 +OMIM:600315 skos:exactMatch HGNC_symbol:TNFRSF4 Unspecified TNFRSF4 +OMIM:600314 skos:exactMatch UMLS:C1420033 Unspecified SHB +OMIM:600314 skos:exactMatch HGNC:10838 Unspecified SHB +OMIM:600314 skos:exactMatch HGNC_symbol:SHB Unspecified SHB +OMIM:600312 skos:exactMatch UMLS:C1417879 Unspecified NUDT1 +OMIM:600312 skos:exactMatch HGNC:8048 Unspecified NUDT1 +OMIM:600312 skos:exactMatch HGNC_symbol:NUDT1 Unspecified NUDT1 +OMIM:600311 skos:exactMatch HGNC:4712 Unspecified GZMM +OMIM:600311 skos:exactMatch UMLS:C1415383 Unspecified GZMM +OMIM:600311 skos:exactMatch HGNC_symbol:GZMM Unspecified GZMM +OMIM:600310 skos:exactMatch HGNC:2227 Unspecified COMP +OMIM:600310 skos:exactMatch UMLS:C1456376 Unspecified COMP +OMIM:600310 skos:exactMatch HGNC_symbol:COMP Unspecified COMP +OMIM:602970 skos:exactMatch UMLS:C1416702 Unspecified KPNA4 +OMIM:602970 skos:exactMatch HGNC:6397 Unspecified KPNA4 +OMIM:602970 skos:exactMatch HGNC_symbol:KPNA4 Unspecified KPNA4 +OMIM:600374 skos:exactMatch UMLS:C1412749 Unspecified BBS4 +OMIM:600374 skos:exactMatch UMLS:C2936864 Unspecified BBS4 +OMIM:600374 skos:exactMatch HGNC:969 Unspecified BBS4 +OMIM:600374 skos:exactMatch HGNC_symbol:BBS4 Unspecified BBS4 +OMIM:600373 skos:exactMatch UMLS:C1838180 Unspecified codas syndrome +OMIM:600372 skos:exactMatch HGNC_symbol:NEDD1 Unspecified NEDD1 +OMIM:600372 skos:exactMatch HGNC:7723 Unspecified NEDD1 +OMIM:600372 skos:exactMatch UMLS:C1417657 Unspecified NEDD1 +OMIM:270970 skos:exactMatch UMLS:C2678338 Unspecified spherocytosis, iia 3 +OMIM:600370 skos:exactMatch HGNC_symbol:SLC25A3 Unspecified SLC25A3 +OMIM:600370 skos:exactMatch UMLS:C1420160 Unspecified SLC25A3 +OMIM:600370 skos:exactMatch HGNC:10989 Unspecified SLC25A3 +OMIM:600370 skos:exactMatch UMLS:C1835845 Unspecified SLC25A3 +OMIM:612358 skos:exactMatch HGNC_symbol:KNG1 Unspecified KNG1 +OMIM:612358 skos:exactMatch HGNC:6383 Unspecified KNG1 +OMIM:612358 skos:exactMatch UMLS:C1537501 Unspecified KNG1 +OMIM:612356 skos:exactMatch UMLS:C0398626 Unspecified heparin cofactor 2 deficiency +OMIM:612357 skos:exactMatch UMLS:C2700439 Unspecified major affective disorder 8 +OMIM:612354 skos:exactMatch UMLS:C2676507 Unspecified inflammatory bowel disease 21 +OMIM:612355 skos:exactMatch UMLS:C1825988 Unspecified +OMIM:612363 skos:exactMatch UMLS:C2676497 Unspecified alanine aminotransferase, plasma level of, quantitative trait locus 1 +OMIM:612364 skos:exactMatch UMLS:C2676496 Unspecified alanine aminotransferase, plasma level of, quantitative trait locus 2 +OMIM:612361 skos:exactMatch UMLS:C2677614 Unspecified schizophrenia 14 +OMIM:612362 skos:exactMatch UMLS:C2676498 Unspecified body mass index quantitative trait locus 12 +OMIM:612360 skos:exactMatch HGNC_symbol:NDUFAF5 Unspecified NDUFAF5 +OMIM:612360 skos:exactMatch UMLS:C1423817 Unspecified NDUFAF5 +OMIM:612360 skos:exactMatch HGNC:15899 Unspecified NDUFAF5 +OMIM:600369 skos:exactMatch UMLS:C1413779 Unspecified CSTF1 +OMIM:600369 skos:exactMatch HGNC_symbol:CSTF1 Unspecified CSTF1 +OMIM:600369 skos:exactMatch HGNC:2483 Unspecified CSTF1 +OMIM:600367 skos:exactMatch UMLS:C1413781 Unspecified CSTF3 +OMIM:600367 skos:exactMatch HGNC:2485 Unspecified CSTF3 +OMIM:600367 skos:exactMatch HGNC_symbol:CSTF3 Unspecified CSTF3 +OMIM:600366 skos:exactMatch HGNC:6132 Unspecified ISL1 +OMIM:600366 skos:exactMatch HGNC_symbol:ISL1 Unspecified ISL1 +OMIM:600366 skos:exactMatch UMLS:C1416480 Unspecified ISL1 +OMIM:600365 skos:exactMatch HGNC:81 Unspecified ABR +OMIM:600365 skos:exactMatch UMLS:C1412101 Unspecified ABR +OMIM:600365 skos:exactMatch HGNC_symbol:ABR Unspecified ABR +OMIM:600364 skos:exactMatch HGNC_symbol:GUCA1A Unspecified GUCA1A +OMIM:600364 skos:exactMatch HGNC:4678 Unspecified GUCA1A +OMIM:600364 skos:exactMatch UMLS:C1415354 Unspecified GUCA1A +OMIM:600385 skos:exactMatch HGNC_symbol:ADCY7 Unspecified ADCY7 +OMIM:600385 skos:exactMatch HGNC:238 Unspecified ADCY7 +OMIM:600385 skos:exactMatch UMLS:C1412226 Unspecified ADCY7 +OMIM:600384 skos:exactMatch UMLS:C1838161 Unspecified aphalangia, partial, with syndactyly and duplication of metatarsal 4 +OMIM:270960 skos:exactMatch UMLS:C0232981 Unspecified spermatogenic failure 4 +OMIM:270960 skos:exactMatch UMLS:C3279437 Unspecified spermatogenic failure 4 +OMIM:600383 skos:exactMatch UMLS:C1838162 Unspecified mesomelia-synostoses syndrome +OMIM:600382 skos:exactMatch HGNC:24321 Unspecified None +OMIM:600382 skos:exactMatch UMLS:C1824913 Unspecified None +OMIM:600382 skos:exactMatch HGNC_symbol:DENND4A Unspecified None +OMIM:600381 skos:exactMatch HGNC_symbol:KTN1 Unspecified KTN1 +OMIM:600381 skos:exactMatch UMLS:C1416766 Unspecified KTN1 +OMIM:600381 skos:exactMatch HGNC:6467 Unspecified KTN1 +OMIM:600380 skos:exactMatch UMLS:C1417823 Unspecified NR1H2 +OMIM:600380 skos:exactMatch HGNC_symbol:NR1H2 Unspecified NR1H2 +OMIM:600380 skos:exactMatch HGNC:7965 Unspecified NR1H2 +OMIM:612349 skos:exactMatch HGNC:8582 Unspecified PAH +OMIM:612349 skos:exactMatch UMLS:C2678416 Unspecified PAH +OMIM:612349 skos:exactMatch HGNC_symbol:PAH Unspecified PAH +OMIM:612349 skos:exactMatch UMLS:C1418251 Unspecified PAH +OMIM:612349 skos:exactMatch UMLS:C2676533 Unspecified PAH +OMIM:612349 skos:exactMatch UMLS:C0751434 Unspecified PAH +OMIM:612347 skos:exactMatch UMLS:C2676723 Unspecified jervell and lange-nielsen syndrome 2 +OMIM:612348 skos:exactMatch UMLS:C2676721 Unspecified thrombophilia, familial, due to decreased release of tissue plasminogen activator +OMIM:612348 skos:exactMatch UMLS:C2676722 Unspecified thrombophilia, familial, due to decreased release of tissue plasminogen activator +OMIM:612345 skos:exactMatch UMLS:C2676724 Unspecified chromosome 2q31.2 deletion syndrome +OMIM:612346 skos:exactMatch HGNC_symbol:GGT1 Unspecified GGT1 +OMIM:612346 skos:exactMatch HGNC:4250 Unspecified GGT1 +OMIM:612346 skos:exactMatch UMLS:C1415053 Unspecified GGT1 +OMIM:612343 skos:exactMatch UMLS:C2676725 Unspecified musical aptitude quantitative trait locus +OMIM:612344 skos:exactMatch HGNC:26332 Unspecified ZNF385B +OMIM:612344 skos:exactMatch HGNC_symbol:ZNF385B Unspecified ZNF385B +OMIM:612344 skos:exactMatch UMLS:C1428573 Unspecified ZNF385B +OMIM:612352 skos:exactMatch HGNC_symbol:STAMBPL1 Unspecified STAMBPL1 +OMIM:612352 skos:exactMatch HGNC:24105 Unspecified STAMBPL1 +OMIM:612352 skos:exactMatch UMLS:C1823130 Unspecified STAMBPL1 +OMIM:612353 skos:exactMatch UMLS:C2676508 Unspecified porokeratosis 6, multiple types +OMIM:612350 skos:exactMatch UMLS:C2676510 Unspecified ehlers-danlos syndrome, spondylodysplastic type, 3 +OMIM:612351 skos:exactMatch HGNC_symbol:FOXI3 Unspecified FOXI3 +OMIM:612351 skos:exactMatch UMLS:C2676509 Unspecified FOXI3 +OMIM:612351 skos:exactMatch HGNC:35123 Unspecified FOXI3 +OMIM:600379 skos:exactMatch HGNC:7622 Unspecified MYT1 +OMIM:600379 skos:exactMatch HGNC_symbol:MYT1 Unspecified MYT1 +OMIM:600379 skos:exactMatch UMLS:C1417584 Unspecified MYT1 +OMIM:600378 skos:exactMatch HGNC:6047 Unspecified IMMT +OMIM:600378 skos:exactMatch HGNC_symbol:IMMT Unspecified IMMT +OMIM:600378 skos:exactMatch UMLS:C1416423 Unspecified IMMT +OMIM:600377 skos:exactMatch UMLS:C1414960 Unspecified GALR1 +OMIM:600377 skos:exactMatch HGNC:4132 Unspecified GALR1 +OMIM:600377 skos:exactMatch HGNC_symbol:GALR1 Unspecified GALR1 +OMIM:600376 skos:exactMatch UMLS:C1832529 Unspecified telangiectasia, hereditary hemorrhagic, iia 2 +OMIM:600376 skos:exactMatch UMLS:C1838163 Unspecified telangiectasia, hereditary hemorrhagic, iia 2 +OMIM:600375 skos:exactMatch UMLS:C4310651 Unspecified XRCC2 +OMIM:600375 skos:exactMatch HGNC:12829 Unspecified XRCC2 +OMIM:600375 skos:exactMatch UMLS:C1337031 Unspecified XRCC2 +OMIM:600375 skos:exactMatch HGNC_symbol:XRCC2 Unspecified XRCC2 +OMIM:600375 skos:exactMatch UMLS:C5436888 Unspecified XRCC2 +OMIM:600375 skos:exactMatch UMLS:C5436889 Unspecified XRCC2 +OMIM:267300 skos:exactMatch UMLS:C4016429 Unspecified renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss +OMIM:267300 skos:exactMatch UMLS:C0403554 Unspecified renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss +OMIM:267300 skos:exactMatch ORPHA:18 Unspecified renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss +OMIM:267300 skos:exactMatch ORPHA:402041 Unspecified renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss +OMIM:600351 skos:exactMatch UMLS:C1838238 Unspecified enteropathy, familial, with villous edema and immunoglobulin g2 deficiency +OMIM:270950 skos:exactMatch UMLS:C1849112 Unspecified spastic quadriplegia, retinitis pigmentosa, and mental retardation +OMIM:135500 skos:exactMatch UMLS:C4551773 Unspecified zimmermann-laband syndrome 1 +OMIM:612338 skos:exactMatch HGNC:16437 Unspecified GGTLC1 +OMIM:612338 skos:exactMatch UMLS:C1424278 Unspecified GGTLC1 +OMIM:612338 skos:exactMatch HGNC_symbol:GGTLC1 Unspecified GGTLC1 +OMIM:612339 skos:exactMatch HGNC:18596 Unspecified GGTLC2 +OMIM:612339 skos:exactMatch UMLS:C2239489 Unspecified GGTLC2 +OMIM:612339 skos:exactMatch HGNC_symbol:GGTLC2 Unspecified GGTLC2 +OMIM:612336 skos:exactMatch UMLS:C3278211 Unspecified thrombophilia due to protein s deficiency, autosomal dominant +OMIM:614999 skos:exactMatch HGNC:20244 Unspecified CYP4X1 +OMIM:614999 skos:exactMatch HGNC_symbol:CYP4X1 Unspecified CYP4X1 +OMIM:614999 skos:exactMatch UMLS:C1539213 Unspecified CYP4X1 +OMIM:612337 skos:exactMatch UMLS:C3808184 Unspecified intellectual developmental disorder, autosomal dominant 22 +OMIM:612337 skos:exactMatch UMLS:C2676727 Unspecified intellectual developmental disorder, autosomal dominant 22 +OMIM:614998 skos:exactMatch HGNC_symbol:GATAD2B Unspecified GATAD2B +OMIM:614998 skos:exactMatch HGNC:30778 Unspecified GATAD2B +OMIM:614998 skos:exactMatch UMLS:C1539553 Unspecified GATAD2B +OMIM:614998 skos:exactMatch UMLS:C3554448 Unspecified GATAD2B +OMIM:612334 skos:exactMatch HGNC:21683 Unspecified NAPEPLD +OMIM:612334 skos:exactMatch HGNC_symbol:NAPEPLD Unspecified NAPEPLD +OMIM:612334 skos:exactMatch UMLS:C2239773 Unspecified NAPEPLD +OMIM:614997 skos:exactMatch HGNC:29989 Unspecified GATAD2A +OMIM:614997 skos:exactMatch HGNC_symbol:GATAD2A Unspecified GATAD2A +OMIM:614997 skos:exactMatch UMLS:C1539552 Unspecified GATAD2A +OMIM:614996 skos:exactMatch UMLS:C3537320 Unspecified MSE +OMIM:612335 skos:exactMatch UMLS:C2676732 Unspecified spastic paraplegia 38, autosomal dominant +OMIM:612332 skos:exactMatch HGNC:17789 Unspecified LIN7C +OMIM:612332 skos:exactMatch UMLS:C1425077 Unspecified LIN7C +OMIM:612332 skos:exactMatch HGNC_symbol:LIN7C Unspecified LIN7C +OMIM:614995 skos:exactMatch HGNC_symbol:IL17RE Unspecified IL17RE +OMIM:614995 skos:exactMatch UMLS:C1425516 Unspecified IL17RE +OMIM:614995 skos:exactMatch HGNC:18439 Unspecified IL17RE +OMIM:612333 skos:exactMatch HGNC:13408 Unspecified PDCD11 +OMIM:612333 skos:exactMatch HGNC_symbol:PDCD11 Unspecified PDCD11 +OMIM:612333 skos:exactMatch UMLS:C1421977 Unspecified PDCD11 +OMIM:614994 skos:exactMatch HGNC:14585 Unspecified CAMK1G +OMIM:614994 skos:exactMatch UMLS:C1422774 Unspecified CAMK1G +OMIM:614994 skos:exactMatch HGNC_symbol:CAMK1G Unspecified CAMK1G +OMIM:255310 skos:exactMatch UMLS:C0546264 Unspecified myopathy, congenital, with fiber-type disproportion +OMIM:612341 skos:exactMatch HGNC:26891 Unspecified GGT6 +OMIM:612341 skos:exactMatch HGNC_symbol:GGT6 Unspecified GGT6 +OMIM:612341 skos:exactMatch UMLS:C1825344 Unspecified GGT6 +OMIM:612342 skos:exactMatch HGNC_symbol:GGT7 Unspecified GGT7 +OMIM:612342 skos:exactMatch HGNC:4259 Unspecified GGT7 +OMIM:612342 skos:exactMatch UMLS:C1415060 Unspecified GGT7 +OMIM:612340 skos:exactMatch HGNC_symbol:GGTLC3 Unspecified GGTLC3 +OMIM:612340 skos:exactMatch UMLS:C2676726 Unspecified GGTLC3 +OMIM:612340 skos:exactMatch HGNC:33426 Unspecified GGTLC3 +OMIM:257970 skos:exactMatch UMLS:C1850331 Unspecified oculorenocerebellar syndrome +OMIM:600349 skos:exactMatch UMLS:C1415855 Unspecified ID1 +OMIM:600349 skos:exactMatch HGNC_symbol:ID1 Unspecified ID1 +OMIM:600349 skos:exactMatch HGNC:5360 Unspecified ID1 +OMIM:600348 skos:exactMatch UMLS:C4284594 Unspecified band heterotopia +OMIM:600347 skos:exactMatch HGNC_symbol:BCAN Unspecified BCAN +OMIM:600347 skos:exactMatch UMLS:C1427881 Unspecified BCAN +OMIM:600347 skos:exactMatch HGNC:23059 Unspecified BCAN +OMIM:600347 skos:exactMatch UMLS:C1447273 Unspecified BCAN +OMIM:600346 skos:exactMatch HGNC_symbol:PCGF2 Unspecified PCGF2 +OMIM:600346 skos:exactMatch HGNC:12929 Unspecified PCGF2 +OMIM:600346 skos:exactMatch UMLS:C1538598 Unspecified PCGF2 +OMIM:600345 skos:exactMatch HGNC_symbol:BTC Unspecified BTC +OMIM:600345 skos:exactMatch HGNC:1121 Unspecified BTC +OMIM:600345 skos:exactMatch UMLS:C1332453 Unspecified BTC +OMIM:600343 skos:exactMatch UMLS:C3551133 Unspecified parotid salivary glands, polycystic dysgenetic disease of +OMIM:600342 skos:exactMatch HGNC:9990 Unspecified RGR +OMIM:600342 skos:exactMatch HGNC_symbol:RGR Unspecified RGR +OMIM:600342 skos:exactMatch UMLS:C1419367 Unspecified RGR +OMIM:600363 skos:exactMatch UMLS:C1838192 Unspecified spastic paraplegia 6, autosomal dominant +OMIM:600362 skos:exactMatch HGNC:3750 Unspecified FLII +OMIM:600362 skos:exactMatch HGNC_symbol:FLII Unspecified FLII +OMIM:600362 skos:exactMatch UMLS:C1414634 Unspecified FLII +OMIM:600361 skos:exactMatch UMLS:C4721916 Unspecified hereditary motor and sensory neuropathy 5 +OMIM:600360 skos:exactMatch UMLS:C1838206 Unspecified aplasia cutis congenita of limbs, autosomal recessive +OMIM:612329 skos:exactMatch UMLS:C1537736 Unspecified MIR30A +OMIM:612329 skos:exactMatch HGNC_symbol:MIR30A Unspecified MIR30A +OMIM:612329 skos:exactMatch HGNC:31624 Unspecified MIR30A +OMIM:612327 skos:exactMatch HGNC:21072 Unspecified MANEA +OMIM:612327 skos:exactMatch HGNC_symbol:MANEA Unspecified MANEA +OMIM:612327 skos:exactMatch UMLS:C1427293 Unspecified MANEA +OMIM:612328 skos:exactMatch UMLS:C1824597 Unspecified None +OMIM:612328 skos:exactMatch HGNC_symbol:CCDC73 Unspecified None +OMIM:612328 skos:exactMatch HGNC:23261 Unspecified None +OMIM:614989 skos:exactMatch UMLS:C2748535 Unspecified EPS8L3 +OMIM:614989 skos:exactMatch HGNC_symbol:EPS8L3 Unspecified EPS8L3 +OMIM:614989 skos:exactMatch HGNC:21297 Unspecified EPS8L3 +OMIM:614989 skos:exactMatch UMLS:C1333349 Unspecified EPS8L3 +OMIM:614988 skos:exactMatch HGNC_symbol:EPS8L2 Unspecified EPS8L2 +OMIM:614988 skos:exactMatch UMLS:C3541520 Unspecified EPS8L2 +OMIM:614988 skos:exactMatch HGNC:21296 Unspecified EPS8L2 +OMIM:612325 skos:exactMatch HGNC_symbol:CILK1 Unspecified ICK +OMIM:612325 skos:exactMatch HGNC:21219 Unspecified ICK +OMIM:612325 skos:exactMatch UMLS:C1427425 Unspecified ICK +OMIM:614987 skos:exactMatch HGNC:21295 Unspecified EPS8L1 +OMIM:614987 skos:exactMatch HGNC_symbol:EPS8L1 Unspecified EPS8L1 +OMIM:614987 skos:exactMatch UMLS:C1333347 Unspecified EPS8L1 +OMIM:612326 skos:exactMatch HGNC:29181 Unspecified TCF25 +OMIM:612326 skos:exactMatch UMLS:C1823255 Unspecified TCF25 +OMIM:612326 skos:exactMatch HGNC_symbol:TCF25 Unspecified TCF25 +OMIM:612323 skos:exactMatch UMLS:C1825596 Unspecified IMMP1L +OMIM:612323 skos:exactMatch HGNC_symbol:IMMP1L Unspecified IMMP1L +OMIM:612323 skos:exactMatch HGNC:26317 Unspecified IMMP1L +OMIM:614986 skos:exactMatch UMLS:C1824522 Unspecified CAMK2N1 +OMIM:614986 skos:exactMatch HGNC_symbol:CAMK2N1 Unspecified CAMK2N1 +OMIM:614986 skos:exactMatch HGNC:24190 Unspecified CAMK2N1 +OMIM:612324 skos:exactMatch UMLS:C1824558 Unspecified CCDC34 +OMIM:612324 skos:exactMatch HGNC_symbol:CCDC34 Unspecified CCDC34 +OMIM:612324 skos:exactMatch HGNC:25079 Unspecified CCDC34 +OMIM:614985 skos:exactMatch HGNC:43984 Unspecified HELLPAR +OMIM:614985 skos:exactMatch HGNC_symbol:HELLPAR Unspecified HELLPAR +OMIM:614985 skos:exactMatch UMLS:C3542728 Unspecified HELLPAR +OMIM:614984 skos:exactMatch HGNC_symbol:DHTKD1 Unspecified DHTKD1 +OMIM:614984 skos:exactMatch HGNC:23537 Unspecified DHTKD1 +OMIM:614984 skos:exactMatch UMLS:C1428130 Unspecified DHTKD1 +OMIM:612322 skos:exactMatch HGNC:29160 Unspecified FASTKD2 +OMIM:612322 skos:exactMatch UMLS:C5394293 Unspecified FASTKD2 +OMIM:612322 skos:exactMatch UMLS:C1825280 Unspecified FASTKD2 +OMIM:612322 skos:exactMatch HGNC_symbol:FASTKD2 Unspecified FASTKD2 +OMIM:614983 skos:exactMatch HGNC:25163 Unspecified BATF2 +OMIM:614983 skos:exactMatch UMLS:C1826412 Unspecified BATF2 +OMIM:614983 skos:exactMatch HGNC_symbol:BATF2 Unspecified BATF2 +OMIM:614993 skos:exactMatch HGNC:28788 Unspecified CAMKV +OMIM:614993 skos:exactMatch UMLS:C1538434 Unspecified CAMKV +OMIM:614993 skos:exactMatch HGNC_symbol:CAMKV Unspecified CAMKV +OMIM:612330 skos:exactMatch HGNC:32866 Unspecified MIRN610 +OMIM:612330 skos:exactMatch UMLS:C1826189 Unspecified MIRN610 +OMIM:612330 skos:exactMatch HGNC_symbol:MIR610 Unspecified MIRN610 +OMIM:612331 skos:exactMatch UMLS:C1425076 Unspecified LIN7B +OMIM:612331 skos:exactMatch HGNC_symbol:LIN7B Unspecified LIN7B +OMIM:612331 skos:exactMatch HGNC:17788 Unspecified LIN7B +OMIM:255320 skos:exactMatch ORPHA:598 Unspecified minicore myopathy with external ophthalmoplegia +OMIM:255320 skos:exactMatch ORPHA:98905 Unspecified minicore myopathy with external ophthalmoplegia +OMIM:255320 skos:exactMatch UMLS:C1850674 Unspecified minicore myopathy with external ophthalmoplegia +OMIM:614992 skos:exactMatch HGNC_symbol:LINC00237 Unspecified LINC00237 +OMIM:614992 skos:exactMatch HGNC:38166 Unspecified LINC00237 +OMIM:614992 skos:exactMatch UMLS:C3470613 Unspecified LINC00237 +OMIM:314100 skos:exactMatch UMLS:C0431886 Unspecified adducted thumbs, congenital +OMIM:614991 skos:exactMatch UMLS:C3554292 Unspecified UCH1LAS +OMIM:614990 skos:exactMatch UMLS:C3539124 Unspecified usher syndrome, iia 1k +OMIM:257980 skos:exactMatch UMLS:C0796093 Unspecified odontoonychodermal dysplasia +OMIM:257980 skos:exactMatch ORPHA:2721 Unspecified odontoonychodermal dysplasia +OMIM:600359 skos:exactMatch UMLS:C1416576 Unspecified KCNJ1 +OMIM:600359 skos:exactMatch HGNC_symbol:KCNJ1 Unspecified KCNJ1 +OMIM:600359 skos:exactMatch HGNC:6255 Unspecified KCNJ1 +OMIM:600358 skos:exactMatch HGNC:4378 Unspecified GMPS +OMIM:600358 skos:exactMatch UMLS:C1838217 Unspecified GMPS +OMIM:600358 skos:exactMatch HGNC_symbol:GMPS Unspecified GMPS +OMIM:600358 skos:exactMatch UMLS:C1415137 Unspecified GMPS +OMIM:600357 skos:exactMatch HGNC_symbol:RPS8 Unspecified RPS8 +OMIM:600357 skos:exactMatch UMLS:C1419752 Unspecified RPS8 +OMIM:600357 skos:exactMatch HGNC:10441 Unspecified RPS8 +OMIM:600356 skos:exactMatch UMLS:C1838218 Unspecified pachydermodactyly, familial +OMIM:600355 skos:exactMatch HGNC:7634 Unspecified NAIP +OMIM:600355 skos:exactMatch UMLS:C1332413 Unspecified NAIP +OMIM:600355 skos:exactMatch HGNC_symbol:NAIP Unspecified NAIP +OMIM:600354 skos:exactMatch HGNC_symbol:SMN1 Unspecified SMN1 +OMIM:600354 skos:exactMatch HGNC:11117 Unspecified SMN1 +OMIM:600354 skos:exactMatch UMLS:C1420257 Unspecified SMN1 +OMIM:304790 skos:exactMatch UMLS:C0342288 Unspecified immunodysregulation, polyendocrinopathy, and enteropathy, X-linked +OMIM:304790 skos:exactMatch UMLS:C1844663 Unspecified immunodysregulation, polyendocrinopathy, and enteropathy, X-linked +OMIM:600353 skos:exactMatch UMLS:C1419789 Unspecified S100A7 +OMIM:600353 skos:exactMatch HGNC:10497 Unspecified S100A7 +OMIM:600353 skos:exactMatch HGNC_symbol:S100A7 Unspecified S100A7 +OMIM:243310 skos:exactMatch ORPHA:2995 Unspecified baraitser-winter syndrome 1 +OMIM:243310 skos:exactMatch UMLS:C1855722 Unspecified baraitser-winter syndrome 1 +OMIM:243310 skos:exactMatch UMLS:C1853623 Unspecified baraitser-winter syndrome 1 +OMIM:218350 skos:exactMatch UMLS:C1857511 Unspecified craniofacial dyssynostosis with short stature +OMIM:612398 skos:exactMatch HGNC:18263 Unspecified RAB21 +OMIM:612398 skos:exactMatch HGNC_symbol:RAB21 Unspecified RAB21 +OMIM:612398 skos:exactMatch UMLS:C1425403 Unspecified RAB21 +OMIM:612399 skos:exactMatch UMLS:C1539970 Unspecified TLE6 +OMIM:612399 skos:exactMatch UMLS:C4225197 Unspecified TLE6 +OMIM:612399 skos:exactMatch HGNC_symbol:TLE6 Unspecified TLE6 +OMIM:612399 skos:exactMatch HGNC:30788 Unspecified TLE6 +OMIM:221995 skos:exactMatch UMLS:C1857297 Unspecified diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification +OMIM:243320 skos:exactMatch UMLS:C1855721 Unspecified intrinsic factor and r binder, combined congenital deficiency of +OMIM:612389 skos:exactMatch UMLS:C2676466 Unspecified pontocerebellar hypoplasia, iia 2b +OMIM:612387 skos:exactMatch UMLS:C2676468 Unspecified sarcoidosis, susceptibility to, 2 +OMIM:612388 skos:exactMatch UMLS:C2676467 Unspecified sarcoidosis, susceptibility to, 3 +OMIM:612396 skos:exactMatch HGNC:17377 Unspecified allantoicase +OMIM:612396 skos:exactMatch UMLS:C3888005 Unspecified allantoicase +OMIM:612396 skos:exactMatch HGNC_symbol:ALLC Unspecified allantoicase +OMIM:612397 skos:exactMatch HGNC:33484 Unspecified COL6A4P1 +OMIM:612397 skos:exactMatch HGNC_symbol:COL6A4P1 Unspecified COL6A4P1 +OMIM:612397 skos:exactMatch UMLS:C2700407 Unspecified COL6A4P1 +OMIM:257960 skos:exactMatch UMLS:C1850332 Unspecified oculotrichodysplasia +OMIM:612394 skos:exactMatch UMLS:C2676285 Unspecified bone fragility with contractures, arterial rupture, and deafness +OMIM:612395 skos:exactMatch HGNC_symbol:CHKB Unspecified CHKB +OMIM:612395 skos:exactMatch HGNC:1938 Unspecified CHKB +OMIM:612395 skos:exactMatch UMLS:C1538453 Unspecified CHKB +OMIM:255300 skos:exactMatch UMLS:C0027127 Unspecified batten-turner congenital myopathy +OMIM:612392 skos:exactMatch UMLS:C1824247 Unspecified NDUFAF6 +OMIM:612392 skos:exactMatch UMLS:C4748786 Unspecified NDUFAF6 +OMIM:612392 skos:exactMatch HGNC:28625 Unspecified NDUFAF6 +OMIM:612392 skos:exactMatch UMLS:C5394473 Unspecified NDUFAF6 +OMIM:612392 skos:exactMatch HGNC_symbol:NDUFAF6 Unspecified NDUFAF6 +OMIM:612393 skos:exactMatch HGNC_symbol:WHAMM Unspecified WHAMM +OMIM:612393 skos:exactMatch UMLS:C1823852 Unspecified WHAMM +OMIM:612393 skos:exactMatch HGNC:30493 Unspecified WHAMM +OMIM:147510 skos:exactMatch UMLS:C1840176 Unspecified IRDN +OMIM:612390 skos:exactMatch UMLS:C2676465 Unspecified pontocerebellar hypoplasia, iia 2c +OMIM:600396 skos:exactMatch HGNC_symbol:DHX8 Unspecified DHX8 +OMIM:600396 skos:exactMatch HGNC:2749 Unspecified DHX8 +OMIM:600396 skos:exactMatch UMLS:C1413965 Unspecified DHX8 +OMIM:600395 skos:exactMatch HGNC:4449 Unspecified GPC1 +OMIM:600395 skos:exactMatch UMLS:C1415193 Unspecified GPC1 +OMIM:600395 skos:exactMatch HGNC_symbol:GPC1 Unspecified GPC1 +OMIM:269920 skos:exactMatch UMLS:C2930923 Unspecified infantile sialic acid storage disease +OMIM:269920 skos:exactMatch UMLS:C1096902 Unspecified infantile sialic acid storage disease +OMIM:600393 skos:exactMatch HGNC_symbol:FEN1 Unspecified FEN1 +OMIM:600393 skos:exactMatch HGNC:3650 Unspecified FEN1 +OMIM:600393 skos:exactMatch UMLS:C1414583 Unspecified FEN1 +OMIM:160500 skos:exactMatch UMLS:C4552004 Unspecified myopathy, distal, 1 +OMIM:600392 skos:exactMatch HGNC_symbol:RAD52 Unspecified RAD52 +OMIM:600392 skos:exactMatch HGNC:9824 Unspecified RAD52 +OMIM:600392 skos:exactMatch UMLS:C1419243 Unspecified RAD52 +OMIM:600391 skos:exactMatch HGNC:4203 Unspecified GCNT1 +OMIM:600391 skos:exactMatch HGNC_symbol:GCNT1 Unspecified GCNT1 +OMIM:600391 skos:exactMatch UMLS:C1415021 Unspecified GCNT1 +OMIM:600390 skos:exactMatch UMLS:C1421377 Unspecified USF2 +OMIM:600390 skos:exactMatch HGNC_symbol:USF2 Unspecified USF2 +OMIM:600390 skos:exactMatch HGNC:12594 Unspecified USF2 +OMIM:612378 skos:exactMatch UMLS:C2676487 Unspecified systemic lupus erythematosus, susceptibility to, 13 +OMIM:612379 skos:exactMatch UMLS:C4317224 Unspecified congenital disorder of glycosylation, iia iq +OMIM:269921 skos:exactMatch UMLS:C0342853 Unspecified sialuria +OMIM:612376 skos:exactMatch UMLS:C0023487 Unspecified acute promyelocytic leukemia +OMIM:612377 skos:exactMatch HGNC:24015 Unspecified COMMD6 +OMIM:612377 skos:exactMatch UMLS:C1428336 Unspecified COMMD6 +OMIM:612377 skos:exactMatch HGNC_symbol:COMMD6 Unspecified COMMD6 +OMIM:612385 skos:exactMatch UMLS:C1537680 Unspecified MED19 +OMIM:612385 skos:exactMatch HGNC:29600 Unspecified MED19 +OMIM:612385 skos:exactMatch HGNC_symbol:MED19 Unspecified MED19 +OMIM:612386 skos:exactMatch HGNC_symbol:FECH Unspecified FECH +OMIM:612386 skos:exactMatch UMLS:C4692546 Unspecified FECH +OMIM:612386 skos:exactMatch HGNC:3647 Unspecified FECH +OMIM:612386 skos:exactMatch UMLS:C1414580 Unspecified FECH +OMIM:612383 skos:exactMatch UMLS:C1825960 Unspecified MED11 +OMIM:612383 skos:exactMatch HGNC_symbol:MED11 Unspecified MED11 +OMIM:612383 skos:exactMatch HGNC:32687 Unspecified MED11 +OMIM:612384 skos:exactMatch HGNC:25944 Unspecified MED18 +OMIM:612384 skos:exactMatch UMLS:C1537679 Unspecified MED18 +OMIM:612384 skos:exactMatch HGNC_symbol:MED18 Unspecified MED18 +OMIM:612381 skos:exactMatch UMLS:C2676484 Unspecified inflammatory bowel disease 23 +OMIM:147522 skos:exactMatch UMLS:C1416517 Unspecified ITPKB +OMIM:147522 skos:exactMatch HGNC:6179 Unspecified ITPKB +OMIM:147522 skos:exactMatch HGNC_symbol:ITPKB Unspecified ITPKB +OMIM:612382 skos:exactMatch UMLS:C1825959 Unspecified MED10 +OMIM:612382 skos:exactMatch HGNC_symbol:MED10 Unspecified MED10 +OMIM:612382 skos:exactMatch HGNC:28760 Unspecified MED10 +OMIM:147521 skos:exactMatch UMLS:C1416516 Unspecified ITPKA +OMIM:147521 skos:exactMatch HGNC:6178 Unspecified ITPKA +OMIM:147521 skos:exactMatch HGNC_symbol:ITPKA Unspecified ITPKA +OMIM:612380 skos:exactMatch UMLS:C2676485 Unspecified inflammatory bowel disease 22 +OMIM:147520 skos:exactMatch UMLS:C4225256 Unspecified ITPA +OMIM:147520 skos:exactMatch HGNC_symbol:ITPA Unspecified ITPA +OMIM:147520 skos:exactMatch UMLS:C0342800 Unspecified ITPA +OMIM:147520 skos:exactMatch UMLS:C1416514 Unspecified ITPA +OMIM:147520 skos:exactMatch HGNC:6176 Unspecified ITPA +OMIM:600389 skos:exactMatch HGNC_symbol:MEP1B Unspecified MEP1B +OMIM:600389 skos:exactMatch UMLS:C1417118 Unspecified MEP1B +OMIM:600389 skos:exactMatch HGNC:7020 Unspecified MEP1B +OMIM:600388 skos:exactMatch HGNC_symbol:MEP1A Unspecified MEP1A +OMIM:600388 skos:exactMatch UMLS:C1417113 Unspecified MEP1A +OMIM:600388 skos:exactMatch HGNC:7015 Unspecified MEP1A +OMIM:600387 skos:exactMatch UMLS:C1412830 Unspecified BST1 +OMIM:600387 skos:exactMatch HGNC_symbol:BST1 Unspecified BST1 +OMIM:600387 skos:exactMatch HGNC:1118 Unspecified BST1 +OMIM:600386 skos:exactMatch HGNC:5361 Unspecified ID2 +OMIM:600386 skos:exactMatch HGNC_symbol:ID2 Unspecified ID2 +OMIM:600386 skos:exactMatch UMLS:C1334077 Unspecified ID2 +OMIM:243300 skos:exactMatch UMLS:C4551899 Unspecified cholestasis, benign recurrent intrahepatic, 1 +OMIM:135550 skos:exactMatch UMLS:C1851112 Unspecified fibromatosis, gingival, with progressive deafness +OMIM:159500 skos:exactMatch UMLS:C1834600 Unspecified myelinated optic nerve fibers +OMIM:243305 skos:exactMatch UMLS:C1865872 Unspecified INVS +OMIM:243305 skos:exactMatch UMLS:C1425144 Unspecified INVS +OMIM:243305 skos:exactMatch HGNC_symbol:INVS Unspecified INVS +OMIM:243305 skos:exactMatch HGNC:17870 Unspecified INVS +OMIM:612369 skos:exactMatch UMLS:C2676491 Unspecified alkaline phosphatase, plasma level of, quantitative trait locus 4 +OMIM:612367 skos:exactMatch UMLS:C2676493 Unspecified alkaline phosphatase, plasma level of, quantitative trait locus 2 +OMIM:612368 skos:exactMatch UMLS:C2676492 Unspecified alkaline phosphatase, plasma level of, quantitative trait locus 3 +OMIM:612365 skos:exactMatch UMLS:C2676495 Unspecified gamma glutamyltransferase, plasma level of, quantitative trait locus 1 +OMIM:612366 skos:exactMatch UMLS:C2676494 Unspecified gamma glutamyltransferase, plasma level of, quantitative trait locus 2 +OMIM:612374 skos:exactMatch UMLS:C4014722 Unspecified STING1 +OMIM:612374 skos:exactMatch UMLS:C1823437 Unspecified STING1 +OMIM:612374 skos:exactMatch HGNC:27962 Unspecified STING1 +OMIM:612374 skos:exactMatch HGNC_symbol:STING1 Unspecified STING1 +OMIM:147530 skos:exactMatch UMLS:C1840172 Unspecified insensitivity to pain with hyperplastic myelinopathy +OMIM:612375 skos:exactMatch HGNC_symbol:AIDA Unspecified AIDA +OMIM:612375 skos:exactMatch HGNC:25761 Unspecified AIDA +OMIM:612375 skos:exactMatch UMLS:C1823700 Unspecified AIDA +OMIM:612372 skos:exactMatch UMLS:C2700440 Unspecified major affective disorder 9 +OMIM:612373 skos:exactMatch HGNC:23096 Unspecified None +OMIM:612373 skos:exactMatch HGNC_symbol:SLC29A3 Unspecified None +OMIM:612373 skos:exactMatch UMLS:C1427913 Unspecified None +OMIM:612370 skos:exactMatch UMLS:C3552553 Unspecified hypogonadotropic hypogonadism 5 with or without anosmia +OMIM:612371 skos:exactMatch UMLS:C2700438 Unspecified major affective disorder 7 +OMIM:270900 skos:exactMatch UMLS:C0599464 Unspecified spastic pseudosclerosis +OMIM:600399 skos:exactMatch UMLS:C1838160 Unspecified pectus excavatum, macrocephaly, short stature, and dysplastic nails +OMIM:600398 skos:exactMatch HGNC:12948 Unspecified ZNF160 +OMIM:600398 skos:exactMatch UMLS:C1421650 Unspecified ZNF160 +OMIM:600398 skos:exactMatch HGNC_symbol:ZNF160 Unspecified ZNF160 +OMIM:600397 skos:exactMatch UMLS:C4015119 Unspecified KCNB1 +OMIM:600397 skos:exactMatch UMLS:C1416554 Unspecified KCNB1 +OMIM:600397 skos:exactMatch HGNC_symbol:KCNB1 Unspecified KCNB1 +OMIM:600397 skos:exactMatch HGNC:6231 Unspecified KCNB1 +OMIM:159530 skos:exactMatch UMLS:C3277190 Unspecified MPL +OMIM:159530 skos:exactMatch HGNC_symbol:MPL Unspecified MPL +OMIM:159530 skos:exactMatch HGNC:7217 Unspecified MPL +OMIM:159530 skos:exactMatch UMLS:C3275998 Unspecified MPL +OMIM:159530 skos:exactMatch UMLS:C4016267 Unspecified MPL +OMIM:159530 skos:exactMatch UMLS:C4016268 Unspecified MPL +OMIM:159530 skos:exactMatch UMLS:C1327915 Unspecified MPL +OMIM:159530 skos:exactMatch UMLS:C0812295 Unspecified MPL +OMIM:147540 skos:exactMatch UMLS:C1840171 Unspecified insect stings, hypersensitivity to +OMIM:147545 skos:exactMatch HGNC_symbol:IRS1 Unspecified IRS1 +OMIM:147545 skos:exactMatch UMLS:C1840169 Unspecified IRS1 +OMIM:147545 skos:exactMatch UMLS:C1334140 Unspecified IRS1 +OMIM:147545 skos:exactMatch HGNC:6125 Unspecified IRS1 +OMIM:172500 skos:exactMatch UMLS:C1809475 Unspecified photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction +OMIM:257910 skos:exactMatch UMLS:C1850338 Unspecified oculopalatocerebral syndrome +OMIM:221950 skos:exactMatch UMLS:C1857298 Unspecified dextrocardia with unusual facies and microphthalmia +OMIM:184500 skos:exactMatch UMLS:C0259771 Unspecified steatocystoma multiplex +OMIM:147556 skos:exactMatch HGNC_symbol:ITGA6 Unspecified ITGA6 +OMIM:147556 skos:exactMatch UMLS:C1442491 Unspecified ITGA6 +OMIM:147556 skos:exactMatch HGNC:6142 Unspecified ITGA6 +OMIM:147553 skos:exactMatch UMLS:C1415923 Unspecified IFNW1 +OMIM:147553 skos:exactMatch HGNC_symbol:IFNW1 Unspecified IFNW1 +OMIM:147553 skos:exactMatch UMLS:C1334086 Unspecified IFNW1 +OMIM:147553 skos:exactMatch HGNC:5448 Unspecified IFNW1 +OMIM:147559 skos:exactMatch UMLS:C1416503 Unspecified ITGB7 +OMIM:147559 skos:exactMatch HGNC_symbol:ITGB7 Unspecified ITGB7 +OMIM:147559 skos:exactMatch HGNC:6162 Unspecified ITGB7 +OMIM:147558 skos:exactMatch UMLS:C1416502 Unspecified ITGB6 +OMIM:147558 skos:exactMatch HGNC_symbol:ITGB6 Unspecified ITGB6 +OMIM:147558 skos:exactMatch HGNC:6161 Unspecified ITGB6 +OMIM:135580 skos:exactMatch UMLS:C0016052 Unspecified fibromuscular dysplasia, arterial +OMIM:147557 skos:exactMatch HGNC_symbol:ITGB4 Unspecified ITGB4 +OMIM:147557 skos:exactMatch UMLS:C1334147 Unspecified ITGB4 +OMIM:147557 skos:exactMatch HGNC:6158 Unspecified ITGB4 +OMIM:257920 skos:exactMatch ORPHA:293843 Unspecified 3mc syndrome 1 +OMIM:257920 skos:exactMatch UMLS:C0796059 Unspecified 3mc syndrome 1 +OMIM:257920 skos:exactMatch ORPHA:2506 Unspecified 3mc syndrome 1 +OMIM:159552 skos:exactMatch UMLS:C1366587 Unspecified MCL1 +OMIM:159552 skos:exactMatch UMLS:C1834590 Unspecified MCL1 +OMIM:159552 skos:exactMatch HGNC:6943 Unspecified MCL1 +OMIM:159552 skos:exactMatch HGNC_symbol:MCL1 Unspecified MCL1 +OMIM:159553 skos:exactMatch HGNC_symbol:MNDA Unspecified MNDA +OMIM:159553 skos:exactMatch HGNC:7183 Unspecified MNDA +OMIM:159553 skos:exactMatch UMLS:C1417219 Unspecified MNDA +OMIM:218330 skos:exactMatch ORPHA:1515 Unspecified cranioectodermal dysplasia 1 +OMIM:218330 skos:exactMatch UMLS:C0432235 Unspecified cranioectodermal dysplasia 1 +OMIM:159550 skos:exactMatch ORPHA:2585 Unspecified ataxia-pancytopenia syndrome +OMIM:159550 skos:exactMatch UMLS:C1327919 Unspecified ataxia-pancytopenia syndrome +OMIM:159556 skos:exactMatch HGNC:7134 Unspecified MLLT1 +OMIM:159556 skos:exactMatch UMLS:C1334513 Unspecified MLLT1 +OMIM:159556 skos:exactMatch HGNC_symbol:MLLT1 Unspecified MLLT1 +OMIM:159557 skos:exactMatch HGNC:7135 Unspecified AFF1 +OMIM:159557 skos:exactMatch HGNC_symbol:AFF1 Unspecified AFF1 +OMIM:159557 skos:exactMatch UMLS:C1826604 Unspecified AFF1 +OMIM:159555 skos:exactMatch UMLS:C1854630 Unspecified KMT2A +OMIM:159555 skos:exactMatch HGNC_symbol:KMT2A Unspecified KMT2A +OMIM:159555 skos:exactMatch HGNC:7132 Unspecified KMT2A +OMIM:159555 skos:exactMatch UMLS:C0919528 Unspecified KMT2A +OMIM:159558 skos:exactMatch HGNC:7136 Unspecified MLLT3 +OMIM:159558 skos:exactMatch UMLS:C1334515 Unspecified MLLT3 +OMIM:159558 skos:exactMatch HGNC_symbol:MLLT3 Unspecified MLLT3 +OMIM:159559 skos:exactMatch HGNC:7137 Unspecified AFDN +OMIM:159559 skos:exactMatch UMLS:C1334516 Unspecified AFDN +OMIM:159559 skos:exactMatch HGNC_symbol:AFDN Unspecified AFDN +OMIM:159559 skos:exactMatch UMLS:C1834588 Unspecified AFDN +OMIM:147570 skos:exactMatch UMLS:C2684859 Unspecified IFNG +OMIM:147570 skos:exactMatch UMLS:C1334085 Unspecified IFNG +OMIM:147570 skos:exactMatch HGNC_symbol:IFNG Unspecified IFNG +OMIM:147570 skos:exactMatch UMLS:C4016227 Unspecified IFNG +OMIM:147570 skos:exactMatch HGNC:5438 Unspecified IFNG +OMIM:147570 skos:exactMatch UMLS:C5436498 Unspecified IFNG +OMIM:147570 skos:exactMatch UMLS:C2750389 Unspecified IFNG +OMIM:147570 skos:exactMatch UMLS:C1969665 Unspecified IFNG +OMIM:147570 skos:exactMatch UMLS:C2750460 Unspecified IFNG +OMIM:147563 skos:exactMatch UMLS:C1415840 Unspecified IBSP +OMIM:147563 skos:exactMatch HGNC_symbol:IBSP Unspecified IBSP +OMIM:147563 skos:exactMatch HGNC:5341 Unspecified IBSP +OMIM:147562 skos:exactMatch HGNC_symbol:IFNA2 Unspecified IFNA2 +OMIM:147562 skos:exactMatch UMLS:C1334080 Unspecified IFNA2 +OMIM:147562 skos:exactMatch HGNC:5423 Unspecified IFNA2 +OMIM:147561 skos:exactMatch HGNC_symbol:ITGB5 Unspecified ITGB5 +OMIM:147561 skos:exactMatch HGNC:6160 Unspecified ITGB5 +OMIM:147561 skos:exactMatch UMLS:C1416501 Unspecified ITGB5 +OMIM:147560 skos:exactMatch UMLS:C1840150 Unspecified interferon antiviral depressor +OMIM:147567 skos:exactMatch HGNC_symbol:IFNA7 Unspecified IFNA7 +OMIM:147567 skos:exactMatch UMLS:C1415909 Unspecified IFNA7 +OMIM:147567 skos:exactMatch HGNC:5428 Unspecified IFNA7 +OMIM:147566 skos:exactMatch HGNC_symbol:IFNA6 Unspecified IFNA6 +OMIM:147566 skos:exactMatch UMLS:C1415908 Unspecified IFNA6 +OMIM:147566 skos:exactMatch HGNC:5427 Unspecified IFNA6 +OMIM:147565 skos:exactMatch HGNC_symbol:IFNA5 Unspecified IFNA5 +OMIM:147565 skos:exactMatch UMLS:C1415907 Unspecified IFNA5 +OMIM:147565 skos:exactMatch HGNC:5426 Unspecified IFNA5 +OMIM:147564 skos:exactMatch HGNC_symbol:IFNA4 Unspecified IFNA4 +OMIM:147564 skos:exactMatch UMLS:C1415906 Unspecified IFNA4 +OMIM:147564 skos:exactMatch HGNC:5425 Unspecified IFNA4 +OMIM:147569 skos:exactMatch UMLS:C4013947 Unspecified IFNGR2 +OMIM:147569 skos:exactMatch UMLS:C1334084 Unspecified IFNGR2 +OMIM:147569 skos:exactMatch HGNC_symbol:IFNGR2 Unspecified IFNGR2 +OMIM:147569 skos:exactMatch HGNC:5440 Unspecified IFNGR2 +OMIM:147568 skos:exactMatch HGNC_symbol:IFNA8 Unspecified IFNA8 +OMIM:147568 skos:exactMatch UMLS:C1415910 Unspecified IFNA8 +OMIM:147568 skos:exactMatch HGNC:5429 Unspecified IFNA8 +OMIM:231300 skos:exactMatch UMLS:C0020302 Unspecified glaucoma 3, primary congenital, a +OMIM:231300 skos:exactMatch UMLS:C1856439 Unspecified glaucoma 3, primary congenital, a +OMIM:231300 skos:exactMatch UMLS:C3278152 Unspecified glaucoma 3, primary congenital, a +OMIM:231300 skos:exactMatch UMLS:C3278153 Unspecified glaucoma 3, primary congenital, a +OMIM:159540 skos:exactMatch UMLS:C1366463 Unspecified LIF +OMIM:159540 skos:exactMatch HGNC_symbol:LIF Unspecified LIF +OMIM:159540 skos:exactMatch HGNC:6596 Unspecified LIF +OMIM:218340 skos:exactMatch UMLS:C1857512 Unspecified temtamy syndrome +OMIM:304700 skos:exactMatch UMLS:C0796074 Unspecified mohr-tranebjaerg syndrome +OMIM:147580 skos:exactMatch HGNC:5421 Unspecified IFNA16 +OMIM:147580 skos:exactMatch UMLS:C1415903 Unspecified IFNA16 +OMIM:147580 skos:exactMatch HGNC_symbol:IFNA16 Unspecified IFNA16 +OMIM:147574 skos:exactMatch HGNC:6131 Unspecified IRF9 +OMIM:147574 skos:exactMatch HGNC_symbol:IRF9 Unspecified IRF9 +OMIM:147574 skos:exactMatch UMLS:C1416479 Unspecified IRF9 +OMIM:147573 skos:exactMatch UMLS:C1415919 Unspecified IFNR +OMIM:147573 skos:exactMatch HGNC_symbol:IFNR Unspecified IFNR +OMIM:147573 skos:exactMatch HGNC:5447 Unspecified IFNR +OMIM:147572 skos:exactMatch HGNC_symbol:IFI6 Unspecified IFI6 +OMIM:147572 skos:exactMatch HGNC:4054 Unspecified IFI6 +OMIM:147572 skos:exactMatch UMLS:C1825561 Unspecified IFI6 +OMIM:147571 skos:exactMatch HGNC_symbol:ISG15 Unspecified ISG15 +OMIM:147571 skos:exactMatch HGNC:4053 Unspecified ISG15 +OMIM:147571 skos:exactMatch UMLS:C1825621 Unspecified ISG15 +OMIM:147578 skos:exactMatch UMLS:C1334079 Unspecified IFNA13 +OMIM:147578 skos:exactMatch HGNC_symbol:IFNA13 Unspecified IFNA13 +OMIM:147578 skos:exactMatch HGNC:5419 Unspecified IFNA13 +OMIM:147577 skos:exactMatch UMLS:C1415901 Unspecified IFNA10 +OMIM:147577 skos:exactMatch HGNC_symbol:IFNA10 Unspecified IFNA10 +OMIM:147577 skos:exactMatch HGNC:5418 Unspecified IFNA10 +OMIM:147576 skos:exactMatch UMLS:C1334138 Unspecified IRF2 +OMIM:147576 skos:exactMatch HGNC:6117 Unspecified IRF2 +OMIM:147576 skos:exactMatch HGNC_symbol:IRF2 Unspecified IRF2 +OMIM:147575 skos:exactMatch UMLS:C1366516 Unspecified IRF1 +OMIM:147575 skos:exactMatch HGNC:6116 Unspecified IRF1 +OMIM:147575 skos:exactMatch HGNC_symbol:IRF1 Unspecified IRF1 +OMIM:147579 skos:exactMatch UMLS:C1415902 Unspecified IFNA14 +OMIM:147579 skos:exactMatch HGNC_symbol:IFNA14 Unspecified IFNA14 +OMIM:147579 skos:exactMatch HGNC:5420 Unspecified IFNA14 +OMIM:186830 skos:exactMatch HGNC_symbol:CD3E Unspecified CD3E +OMIM:186830 skos:exactMatch HGNC:1674 Unspecified CD3E +OMIM:186830 skos:exactMatch UMLS:C3810127 Unspecified CD3E +OMIM:186830 skos:exactMatch UMLS:C3810128 Unspecified CD3E +OMIM:186830 skos:exactMatch UMLS:C1332711 Unspecified CD3E +OMIM:162860 skos:exactMatch UMLS:C1824675 Unspecified CD177 +OMIM:162860 skos:exactMatch HGNC:30072 Unspecified CD177 +OMIM:162860 skos:exactMatch HGNC_symbol:CD177 Unspecified CD177 +OMIM:123260 skos:exactMatch HGNC:2367 Unspecified CRP +OMIM:123260 skos:exactMatch HGNC_symbol:CRP Unspecified CRP +OMIM:123260 skos:exactMatch UMLS:C1413716 Unspecified CRP +OMIM:147220 skos:exactMatch HGNC:5855 Unspecified IGLC1 +OMIM:147220 skos:exactMatch UMLS:C1416278 Unspecified IGLC1 +OMIM:147220 skos:exactMatch HGNC_symbol:IGLC1 Unspecified IGLC1 +OMIM:208700 skos:exactMatch UMLS:C1859646 Unspecified ataxia with myoclonic epilepsy and presenile dementia +OMIM:186845 skos:exactMatch HGNC_symbol:CD81 Unspecified CD81 +OMIM:186845 skos:exactMatch HGNC:1701 Unspecified CD81 +OMIM:186845 skos:exactMatch UMLS:C1413240 Unspecified CD81 +OMIM:147240 skos:exactMatch UMLS:C1416298 Unspecified IGLV@ +OMIM:147230 skos:exactMatch UMLS:C1416285 Unspecified IGLJ@ +OMIM:221700 skos:exactMatch UMLS:C1857334 Unspecified deafness, neural, with atypical atopic dermatitis +OMIM:162880 skos:exactMatch UMLS:C1834173 Unspecified neutrophil-specific antigen: nd1 +OMIM:186810 skos:exactMatch UMLS:C1421101 Unspecified TRDC +OMIM:186810 skos:exactMatch HGNC_symbol:TRDC Unspecified TRDC +OMIM:186810 skos:exactMatch HGNC:12253 Unspecified TRDC +OMIM:111250 skos:exactMatch UMLS:C3887952 Unspecified blood group system, landsteiner-wiener +OMIM:147251 skos:exactMatch UMLS:C3494175 Unspecified incisors, fused mandibular +OMIM:147250 skos:exactMatch UMLS:C1840235 Unspecified solitary median maxillary central incisor +OMIM:172200 skos:exactMatch HGNC:8891 Unspecified PGD +OMIM:172200 skos:exactMatch HGNC_symbol:PGD Unspecified PGD +OMIM:172200 skos:exactMatch UMLS:C1418504 Unspecified PGD +OMIM:125890 skos:exactMatch UMLS:C1852087 Unspecified diarrhea, glucose-stimulated secretory, with common variable immunodeficiency +OMIM:147245 skos:exactMatch HGNC_symbol:CD79B Unspecified CD79B +OMIM:147245 skos:exactMatch HGNC:1699 Unspecified CD79B +OMIM:147245 skos:exactMatch UMLS:C1413239 Unspecified CD79B +OMIM:186820 skos:exactMatch HGNC_symbol:CD7 Unspecified CD7 +OMIM:186820 skos:exactMatch HGNC:1695 Unspecified CD7 +OMIM:186820 skos:exactMatch UMLS:C1413236 Unspecified CD7 +OMIM:147260 skos:exactMatch UMLS:C1840233 Unspecified immunoglobulin switch sequences +OMIM:147260 skos:exactMatch UMLS:C1840234 Unspecified immunoglobulin switch sequences +OMIM:502000 skos:exactMatch UMLS:C0001811 Unspecified aging +OMIM:125880 skos:exactMatch UMLS:C1852088 Unspecified DIA3 +OMIM:147270 skos:exactMatch HGNC_symbol:ITIH1 Unspecified ITIH1 +OMIM:147270 skos:exactMatch HGNC:6166 Unspecified ITIH1 +OMIM:147270 skos:exactMatch UMLS:C1416506 Unspecified ITIH1 +OMIM:147265 skos:exactMatch UMLS:C0431401 Unspecified ITPR1 +OMIM:147265 skos:exactMatch UMLS:C1334148 Unspecified ITPR1 +OMIM:147265 skos:exactMatch UMLS:C1847725 Unspecified ITPR1 +OMIM:147265 skos:exactMatch HGNC:6180 Unspecified ITPR1 +OMIM:147265 skos:exactMatch HGNC_symbol:ITPR1 Unspecified ITPR1 +OMIM:147265 skos:exactMatch UMLS:C1861732 Unspecified ITPR1 +OMIM:147264 skos:exactMatch HGNC_symbol:INPP5B Unspecified INPP5B +OMIM:147264 skos:exactMatch UMLS:C1416445 Unspecified INPP5B +OMIM:147264 skos:exactMatch HGNC:6077 Unspecified INPP5B +OMIM:147263 skos:exactMatch UMLS:C1416440 Unspecified INPP1 +OMIM:147263 skos:exactMatch HGNC_symbol:INPP1 Unspecified INPP1 +OMIM:147263 skos:exactMatch HGNC:6071 Unspecified INPP1 +OMIM:147267 skos:exactMatch UMLS:C1416519 Unspecified ITPR3 +OMIM:147267 skos:exactMatch HGNC:6182 Unspecified ITPR3 +OMIM:147267 skos:exactMatch HGNC_symbol:ITPR3 Unspecified ITPR3 +OMIM:174880 skos:exactMatch UMLS:C1868083 Unspecified None +OMIM:135290 skos:exactMatch UMLS:C1851124 Unspecified desmoid disease, hereditary +OMIM:135290 skos:exactMatch ORPHA:873 Unspecified desmoid disease, hereditary +OMIM:147280 skos:exactMatch UMLS:C1334090 Unspecified IGF2R +OMIM:147280 skos:exactMatch HGNC:5467 Unspecified IGF2R +OMIM:147280 skos:exactMatch HGNC_symbol:IGF2R Unspecified IGF2R +OMIM:162890 skos:exactMatch UMLS:C1834172 Unspecified None +OMIM:186880 skos:exactMatch UMLS:C3809332 Unspecified TRAC +OMIM:186880 skos:exactMatch UMLS:C1420886 Unspecified TRAC +OMIM:186880 skos:exactMatch HGNC:12029 Unspecified TRAC +OMIM:186880 skos:exactMatch HGNC_symbol:TRAC Unspecified TRAC +OMIM:125860 skos:exactMatch HGNC:2874 Unspecified NQO1 +OMIM:125860 skos:exactMatch HGNC_symbol:NQO1 Unspecified NQO1 +OMIM:125860 skos:exactMatch UMLS:C0919428 Unspecified NQO1 +OMIM:125860 skos:exactMatch UMLS:C2675718 Unspecified NQO1 +OMIM:125860 skos:exactMatch UMLS:C2675719 Unspecified NQO1 +OMIM:125860 skos:exactMatch UMLS:C2675722 Unspecified NQO1 +OMIM:186852 skos:exactMatch HGNC:9549 Unspecified PSMC3 +OMIM:186852 skos:exactMatch UMLS:C1419022 Unspecified PSMC3 +OMIM:186852 skos:exactMatch HGNC_symbol:PSMC3 Unspecified PSMC3 +OMIM:186850 skos:exactMatch UMLS:C0265654 Unspecified tarsal coalition +OMIM:186855 skos:exactMatch UMLS:C1336574 Unspecified TAL2 +OMIM:186855 skos:exactMatch HGNC:11557 Unspecified TAL2 +OMIM:186855 skos:exactMatch HGNC_symbol:TAL2 Unspecified TAL2 +OMIM:186854 skos:exactMatch HGNC_symbol:SLC6A6 Unspecified SLC6A6 +OMIM:186854 skos:exactMatch HGNC:11052 Unspecified SLC6A6 +OMIM:186854 skos:exactMatch UMLS:C1420216 Unspecified SLC6A6 +OMIM:147290 skos:exactMatch HGNC:6066 Unspecified INHBA +OMIM:147290 skos:exactMatch HGNC_symbol:INHBA Unspecified INHBA +OMIM:147290 skos:exactMatch UMLS:C0100748 Unspecified INHBA +OMIM:147290 skos:exactMatch UMLS:C1334131 Unspecified INHBA +OMIM:125852 skos:exactMatch UMLS:C1852092 Unspecified iia 1 diabetes mellitus 2 +OMIM:125853 skos:exactMatch UMLS:C0011860 Unspecified iia 2 diabetes mellitus +OMIM:125850 skos:exactMatch UMLS:C1852093 Unspecified maturity-onset diabetes of the young, iia 1 +OMIM:125851 skos:exactMatch ORPHA:552 Unspecified maturity-onset diabetes of the young, iia 2 +OMIM:125851 skos:exactMatch UMLS:C0342277 Unspecified maturity-onset diabetes of the young, iia 2 +OMIM:125855 skos:exactMatch HGNC_symbol:DGKA Unspecified DGKA +OMIM:125855 skos:exactMatch UMLS:C1414029 Unspecified DGKA +OMIM:125855 skos:exactMatch HGNC:2849 Unspecified DGKA +OMIM:111200 skos:exactMatch UMLS:C1862213 Unspecified blood group--lutheran system +OMIM:111200 skos:exactMatch UMLS:C0024171 Unspecified blood group--lutheran system +OMIM:184200 skos:exactMatch UMLS:C0038016 Unspecified spondylolisthesis +OMIM:186860 skos:exactMatch UMLS:C1420651 Unspecified TCL4 +OMIM:184255 skos:exactMatch UMLS:C0432221 Unspecified spondylometaphyseal dysplasia, corner fracture iia +OMIM:184253 skos:exactMatch UMLS:C1866688 Unspecified spondylometaphyseal dysplasia, algerian iia +OMIM:184252 skos:exactMatch UMLS:C0265280 Unspecified spondylometaphyseal dysplasia, kozlowski iia +OMIM:184250 skos:exactMatch UMLS:C4759767 Unspecified spondyloepimetaphyseal dysplasia, strudwick iia +OMIM:184250 skos:exactMatch UMLS:C0700635 Unspecified spondyloepimetaphyseal dysplasia, strudwick iia +OMIM:184260 skos:exactMatch UMLS:C2745953 Unspecified odontochondrodysplasia 1 +OMIM:172250 skos:exactMatch UMLS:C1418501 Unspecified PGAM1 +OMIM:172250 skos:exactMatch HGNC_symbol:PGAM1 Unspecified PGAM1 +OMIM:172250 skos:exactMatch HGNC:8888 Unspecified PGAM1 +OMIM:186890 skos:exactMatch UMLS:C1861283 Unspecified tear protein, anodal +OMIM:172280 skos:exactMatch HGNC:8909 Unspecified PGP +OMIM:172280 skos:exactMatch HGNC_symbol:PGP Unspecified PGP +OMIM:172280 skos:exactMatch UMLS:C1418520 Unspecified PGP +OMIM:101840 skos:exactMatch UMLS:C1863343 Unspecified acrokeratoderma, hereditary papulotranslucent +OMIM:101850 skos:exactMatch UMLS:C0545044 Unspecified palmoplantar keratoderma, punctate iia 3 +OMIM:172270 skos:exactMatch HGNC:8898 Unspecified PGK2 +OMIM:172270 skos:exactMatch HGNC_symbol:PGK2 Unspecified PGK2 +OMIM:172270 skos:exactMatch UMLS:C1418510 Unspecified PGK2 +OMIM:125800 skos:exactMatch UMLS:C1563706 Unspecified diabetes insipidus, nephrogenic, 2, autosomal +OMIM:612518 skos:exactMatch UMLS:C2675867 Unspecified ciliary dyskinesia, primary, 10 +OMIM:612519 skos:exactMatch HGNC:15621 Unspecified SLC35D3 +OMIM:612519 skos:exactMatch HGNC_symbol:SLC35D3 Unspecified SLC35D3 +OMIM:612519 skos:exactMatch UMLS:C1423626 Unspecified SLC35D3 +OMIM:612516 skos:exactMatch HGNC:15947 Unspecified UACA +OMIM:612516 skos:exactMatch UMLS:C1423851 Unspecified UACA +OMIM:612516 skos:exactMatch HGNC_symbol:UACA Unspecified UACA +OMIM:612517 skos:exactMatch UMLS:C1426761 Unspecified DNAAF2 +OMIM:612517 skos:exactMatch HGNC_symbol:DNAAF2 Unspecified DNAAF2 +OMIM:612517 skos:exactMatch HGNC:20188 Unspecified DNAAF2 +OMIM:612514 skos:exactMatch UMLS:C2675874 Unspecified specific language impairment 4 +OMIM:612515 skos:exactMatch HGNC_symbol:DCAF17 Unspecified DCAF17 +OMIM:612515 skos:exactMatch HGNC:25784 Unspecified DCAF17 +OMIM:612515 skos:exactMatch UMLS:C1824104 Unspecified DCAF17 +OMIM:612512 skos:exactMatch HGNC_symbol:MIR101-2 Unspecified MIRN101-2 +OMIM:612512 skos:exactMatch HGNC:31489 Unspecified MIRN101-2 +OMIM:612512 skos:exactMatch UMLS:C1537758 Unspecified MIRN101-2 +OMIM:231090 skos:exactMatch UMLS:C0678213 Unspecified hydatidiform mole, recurrent, 1 +OMIM:231090 skos:exactMatch UMLS:C0020217 Unspecified hydatidiform mole, recurrent, 1 +OMIM:231090 skos:exactMatch UMLS:C3463897 Unspecified hydatidiform mole, recurrent, 1 +OMIM:612513 skos:exactMatch UMLS:C2675875 Unspecified chromosome 2p16.1-p15 deletion syndrome +OMIM:612510 skos:exactMatch UMLS:C1412094 Unspecified ABCF2 +OMIM:612510 skos:exactMatch HGNC_symbol:ABCF2 Unspecified ABCF2 +OMIM:612510 skos:exactMatch HGNC:71 Unspecified ABCF2 +OMIM:113811 skos:exactMatch HGNC_symbol:COL17A1 Unspecified COL17A1 +OMIM:113811 skos:exactMatch HGNC:2194 Unspecified COL17A1 +OMIM:113811 skos:exactMatch UMLS:C1413577 Unspecified COL17A1 +OMIM:612511 skos:exactMatch HGNC_symbol:MIR101-1 Unspecified MIRN101-1 +OMIM:612511 skos:exactMatch HGNC:31488 Unspecified MIRN101-1 +OMIM:612511 skos:exactMatch UMLS:C1537757 Unspecified MIRN101-1 +OMIM:113810 skos:exactMatch UMLS:C1539312 Unspecified DST +OMIM:113810 skos:exactMatch UMLS:C3539003 Unspecified DST +OMIM:113810 skos:exactMatch UMLS:C3809470 Unspecified DST +OMIM:113810 skos:exactMatch HGNC:1090 Unspecified DST +OMIM:113810 skos:exactMatch HGNC_symbol:DST Unspecified DST +OMIM:600529 skos:exactMatch HGNC_symbol:AUH Unspecified AUH +OMIM:600529 skos:exactMatch HGNC:890 Unspecified AUH +OMIM:600529 skos:exactMatch UMLS:C1332121 Unspecified AUH +OMIM:600529 skos:exactMatch UMLS:C0342727 Unspecified AUH +OMIM:600528 skos:exactMatch HGNC_symbol:CPT1A Unspecified CPT1A +OMIM:600528 skos:exactMatch UMLS:C1413688 Unspecified CPT1A +OMIM:600528 skos:exactMatch UMLS:C1829703 Unspecified CPT1A +OMIM:600528 skos:exactMatch UMLS:C4749072 Unspecified CPT1A +OMIM:600528 skos:exactMatch UMLS:C4749136 Unspecified CPT1A +OMIM:600528 skos:exactMatch HGNC:2328 Unspecified CPT1A +OMIM:600527 skos:exactMatch UMLS:C1414306 Unspecified EFNB2 +OMIM:600527 skos:exactMatch HGNC:3227 Unspecified EFNB2 +OMIM:600527 skos:exactMatch HGNC_symbol:EFNB2 Unspecified EFNB2 +OMIM:600526 skos:exactMatch UMLS:C1414387 Unspecified MARK2 +OMIM:600526 skos:exactMatch HGNC:3332 Unspecified MARK2 +OMIM:600526 skos:exactMatch HGNC_symbol:MARK2 Unspecified MARK2 +OMIM:600525 skos:exactMatch HGNC:2916 Unspecified DLX3 +OMIM:600525 skos:exactMatch HGNC_symbol:DLX3 Unspecified DLX3 +OMIM:600525 skos:exactMatch UMLS:C1414077 Unspecified DLX3 +OMIM:600524 skos:exactMatch UMLS:C1335655 Unspecified RYK +OMIM:600524 skos:exactMatch HGNC_symbol:RYK Unspecified RYK +OMIM:600524 skos:exactMatch HGNC:10481 Unspecified RYK +OMIM:600523 skos:exactMatch HGNC_symbol:SLC11A2 Unspecified SLC11A2 +OMIM:600523 skos:exactMatch UMLS:C1420089 Unspecified SLC11A2 +OMIM:600523 skos:exactMatch HGNC:10908 Unspecified SLC11A2 +OMIM:243080 skos:exactMatch UMLS:C1855737 Unspecified inosine phosphorylase deficiency, immune defect due to +OMIM:600522 skos:exactMatch HGNC_symbol:PLA2G4A Unspecified PLA2G4A +OMIM:600522 skos:exactMatch UMLS:C1418620 Unspecified PLA2G4A +OMIM:600522 skos:exactMatch HGNC:9035 Unspecified PLA2G4A +OMIM:600521 skos:exactMatch UMLS:C1417036 Unspecified MASP1 +OMIM:600521 skos:exactMatch HGNC:6901 Unspecified MASP1 +OMIM:600521 skos:exactMatch HGNC_symbol:MASP1 Unspecified MASP1 +OMIM:600520 skos:exactMatch HGNC_symbol:GTF2A1 Unspecified GTF2A1 +OMIM:600520 skos:exactMatch UMLS:C1333716 Unspecified GTF2A1 +OMIM:600520 skos:exactMatch HGNC:4646 Unspecified GTF2A1 +OMIM:270685 skos:exactMatch ORPHA:100998 Unspecified spastic paraplegia 17, autosomal dominant +OMIM:270685 skos:exactMatch UMLS:C2931276 Unspecified spastic paraplegia 17, autosomal dominant +OMIM:612509 skos:exactMatch HGNC:52 Unspecified ABCC10 +OMIM:612509 skos:exactMatch UMLS:C1412076 Unspecified ABCC10 +OMIM:612509 skos:exactMatch HGNC_symbol:ABCC10 Unspecified ABCC10 +OMIM:612507 skos:exactMatch HGNC:39 Unspecified ABCA9 +OMIM:612507 skos:exactMatch UMLS:C1412068 Unspecified ABCA9 +OMIM:612507 skos:exactMatch HGNC_symbol:ABCA9 Unspecified ABCA9 +OMIM:612508 skos:exactMatch HGNC:30 Unspecified ABCA10 +OMIM:612508 skos:exactMatch UMLS:C1412059 Unspecified ABCA10 +OMIM:612508 skos:exactMatch HGNC_symbol:ABCA10 Unspecified ABCA10 +OMIM:612505 skos:exactMatch HGNC:38 Unspecified ABCA8 +OMIM:612505 skos:exactMatch UMLS:C1412067 Unspecified ABCA8 +OMIM:612505 skos:exactMatch HGNC_symbol:ABCA8 Unspecified ABCA8 +OMIM:612506 skos:exactMatch UMLS:C1426522 Unspecified UBE2R2 +OMIM:612506 skos:exactMatch HGNC_symbol:UBE2R2 Unspecified UBE2R2 +OMIM:612506 skos:exactMatch HGNC:19907 Unspecified UBE2R2 +OMIM:612503 skos:exactMatch HGNC:35 Unspecified ABCA5 +OMIM:612503 skos:exactMatch UMLS:C1412064 Unspecified ABCA5 +OMIM:612503 skos:exactMatch HGNC_symbol:ABCA5 Unspecified ABCA5 +OMIM:612504 skos:exactMatch HGNC:36 Unspecified ABCA6 +OMIM:612504 skos:exactMatch UMLS:C1412065 Unspecified ABCA6 +OMIM:612504 skos:exactMatch HGNC_symbol:ABCA6 Unspecified ABCA6 +OMIM:612501 skos:exactMatch UMLS:C1823572 Unspecified UBE2Q2 +OMIM:612501 skos:exactMatch HGNC_symbol:UBE2Q2 Unspecified UBE2Q2 +OMIM:612501 skos:exactMatch HGNC:19248 Unspecified UBE2Q2 +OMIM:231080 skos:exactMatch UMLS:C3887495 Unspecified german syndrome +OMIM:612502 skos:exactMatch HGNC_symbol:COLEC11 Unspecified COLEC11 +OMIM:612502 skos:exactMatch UMLS:C1424826 Unspecified COLEC11 +OMIM:612502 skos:exactMatch HGNC:17213 Unspecified COLEC11 +OMIM:113800 skos:exactMatch UMLS:C1862005 Unspecified epidermolytic hyperkeratosis +OMIM:113800 skos:exactMatch UMLS:C0079153 Unspecified epidermolytic hyperkeratosis +OMIM:612500 skos:exactMatch UMLS:C1426628 Unspecified DDX52 +OMIM:612500 skos:exactMatch HGNC:20038 Unspecified DDX52 +OMIM:612500 skos:exactMatch HGNC_symbol:DDX52 Unspecified DDX52 +OMIM:600539 skos:exactMatch HGNC:9404 Unspecified PRKCI +OMIM:600539 skos:exactMatch HGNC_symbol:PRKCI Unspecified PRKCI +OMIM:600539 skos:exactMatch UMLS:C1418921 Unspecified PRKCI +OMIM:280000 skos:exactMatch UMLS:C1848392 Unspecified coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome +OMIM:600538 skos:exactMatch HGNC_symbol:PRDX2 Unspecified PRDX2 +OMIM:600538 skos:exactMatch UMLS:C1418880 Unspecified PRDX2 +OMIM:600538 skos:exactMatch HGNC:9353 Unspecified PRDX2 +OMIM:600537 skos:exactMatch HGNC:9948 Unspecified RECQL +OMIM:600537 skos:exactMatch UMLS:C1335609 Unspecified RECQL +OMIM:600537 skos:exactMatch HGNC_symbol:RECQL Unspecified RECQL +OMIM:600536 skos:exactMatch HGNC_symbol:ITGA7 Unspecified ITGA7 +OMIM:600536 skos:exactMatch HGNC:6143 Unspecified ITGA7 +OMIM:600536 skos:exactMatch UMLS:C1416489 Unspecified ITGA7 +OMIM:600535 skos:exactMatch HGNC:7014 Unspecified MEOX2 +OMIM:600535 skos:exactMatch HGNC_symbol:MEOX2 Unspecified MEOX2 +OMIM:600535 skos:exactMatch UMLS:C1417112 Unspecified MEOX2 +OMIM:172290 skos:exactMatch UMLS:C1868352 Unspecified phosphoglycoprotein 1 +OMIM:600534 skos:exactMatch UMLS:C1412831 Unspecified BST2 +OMIM:600534 skos:exactMatch HGNC_symbol:BST2 Unspecified BST2 +OMIM:600534 skos:exactMatch HGNC:1119 Unspecified BST2 +OMIM:600533 skos:exactMatch UMLS:C1423541 Unspecified VANGL2 +OMIM:600533 skos:exactMatch HGNC_symbol:VANGL2 Unspecified VANGL2 +OMIM:600533 skos:exactMatch HGNC:15511 Unspecified VANGL2 +OMIM:600532 skos:exactMatch HGNC:7717 Unspecified NDUFV2 +OMIM:600532 skos:exactMatch UMLS:C1417653 Unspecified NDUFV2 +OMIM:600532 skos:exactMatch HGNC_symbol:NDUFV2 Unspecified NDUFV2 +OMIM:600531 skos:exactMatch HGNC:11077 Unspecified SLC9A4 +OMIM:600531 skos:exactMatch UMLS:C1420238 Unspecified SLC9A4 +OMIM:600531 skos:exactMatch HGNC_symbol:SLC9A4 Unspecified SLC9A4 +OMIM:600530 skos:exactMatch HGNC:11072 Unspecified SLC9A2 +OMIM:600530 skos:exactMatch UMLS:C1420233 Unspecified SLC9A2 +OMIM:600530 skos:exactMatch HGNC_symbol:SLC9A2 Unspecified SLC9A2 +OMIM:101805 skos:exactMatch UMLS:C2931762 Unspecified acrofacial dysostosis, catania iia +OMIM:600509 skos:exactMatch HGNC_symbol:ABCC8 Unspecified ABCC8 +OMIM:600509 skos:exactMatch UMLS:C0011860 Unspecified ABCC8 +OMIM:600509 skos:exactMatch HGNC:59 Unspecified ABCC8 +OMIM:600509 skos:exactMatch UMLS:C2931832 Unspecified ABCC8 +OMIM:600509 skos:exactMatch UMLS:C1412082 Unspecified ABCC8 +OMIM:600509 skos:exactMatch UMLS:C1835887 Unspecified ABCC8 +OMIM:600509 skos:exactMatch UMLS:C5394303 Unspecified ABCC8 +OMIM:600509 skos:exactMatch UMLS:C5394566 Unspecified ABCC8 +OMIM:600509 skos:exactMatch UMLS:C0271714 Unspecified ABCC8 +OMIM:279000 skos:exactMatch UMLS:C0340037 Unspecified young syndrome +OMIM:600508 skos:exactMatch UMLS:C1417611 Unspecified NCK1 +OMIM:600508 skos:exactMatch HGNC:7664 Unspecified NCK1 +OMIM:600508 skos:exactMatch HGNC_symbol:NCK1 Unspecified NCK1 +OMIM:101800 skos:exactMatch UMLS:C3276228 Unspecified acrodysostosis 1 with or without hormone resistance +OMIM:600505 skos:exactMatch HGNC:2451 Unspecified CSNK1A1 +OMIM:600505 skos:exactMatch HGNC_symbol:CSNK1A1 Unspecified CSNK1A1 +OMIM:600505 skos:exactMatch UMLS:C1332795 Unspecified CSNK1A1 +OMIM:600504 skos:exactMatch UMLS:C1416586 Unspecified KCNJ4 +OMIM:600504 skos:exactMatch HGNC_symbol:KCNJ4 Unspecified KCNJ4 +OMIM:600504 skos:exactMatch HGNC:6265 Unspecified KCNJ4 +OMIM:600503 skos:exactMatch UMLS:C1709390 Unspecified SUB1 +OMIM:600503 skos:exactMatch HGNC_symbol:SUB1 Unspecified SUB1 +OMIM:600503 skos:exactMatch HGNC:19985 Unspecified SUB1 +OMIM:243060 skos:exactMatch UMLS:C0403812 Unspecified spermatogenic failure 5 +OMIM:600502 skos:exactMatch UMLS:C1415994 Unspecified IGHMBP2 +OMIM:600502 skos:exactMatch HGNC:5542 Unspecified IGHMBP2 +OMIM:600502 skos:exactMatch HGNC_symbol:IGHMBP2 Unspecified IGHMBP2 +OMIM:600501 skos:exactMatch UMLS:C1838099 Unspecified abcd syndrome +OMIM:267010 skos:exactMatch UMLS:C2673885 Unspecified meckel syndrome, iia 7 +OMIM:600519 skos:exactMatch HGNC_symbol:GTF2A2 Unspecified GTF2A2 +OMIM:600519 skos:exactMatch UMLS:C1333717 Unspecified GTF2A2 +OMIM:600519 skos:exactMatch HGNC:4647 Unspecified GTF2A2 +OMIM:600518 skos:exactMatch HGNC_symbol:SERPINB4 Unspecified SERPINB4 +OMIM:600518 skos:exactMatch UMLS:C1419845 Unspecified SERPINB4 +OMIM:600518 skos:exactMatch HGNC:10570 Unspecified SERPINB4 +OMIM:600517 skos:exactMatch UMLS:C1419844 Unspecified SERPINB3 +OMIM:600517 skos:exactMatch HGNC:10569 Unspecified SERPINB3 +OMIM:600517 skos:exactMatch HGNC_symbol:SERPINB3 Unspecified SERPINB3 +OMIM:231095 skos:exactMatch ORPHA:1802 Unspecified ghosal hematodiaphyseal dysplasia +OMIM:231095 skos:exactMatch UMLS:C1856465 Unspecified ghosal hematodiaphyseal dysplasia +OMIM:600516 skos:exactMatch HGNC_symbol:BAK1 Unspecified BAK1 +OMIM:600516 skos:exactMatch HGNC:949 Unspecified BAK1 +OMIM:600516 skos:exactMatch UMLS:C1332379 Unspecified BAK1 +OMIM:600515 skos:exactMatch UMLS:C1853278 Unspecified P2RY12 +OMIM:600515 skos:exactMatch HGNC_symbol:P2RY12 Unspecified P2RY12 +OMIM:600515 skos:exactMatch UMLS:C1425330 Unspecified P2RY12 +OMIM:600515 skos:exactMatch HGNC:18124 Unspecified P2RY12 +OMIM:600514 skos:exactMatch HGNC:9957 Unspecified RELN +OMIM:600514 skos:exactMatch HGNC_symbol:RELN Unspecified RELN +OMIM:600514 skos:exactMatch UMLS:C1419337 Unspecified RELN +OMIM:600513 skos:exactMatch UMLS:C1838049 Unspecified epilepsy, nocturnal frontal lobe, 1 +OMIM:600512 skos:exactMatch UMLS:C4551957 Unspecified epilepsy, familial temporal lobe, 1 +OMIM:600512 skos:exactMatch UMLS:C1838062 Unspecified epilepsy, familial temporal lobe, 1 +OMIM:600511 skos:exactMatch UMLS:C1838069 Unspecified schizophrenia 3 +OMIM:600510 skos:exactMatch UMLS:C1271398 Unspecified glaucoma-related pigment dispersion syndrome +OMIM:600451 skos:exactMatch HGNC:387 Unspecified AKR1C4 +OMIM:600451 skos:exactMatch UMLS:C1412327 Unspecified AKR1C4 +OMIM:600451 skos:exactMatch HGNC_symbol:AKR1C4 Unspecified AKR1C4 +OMIM:600450 skos:exactMatch HGNC:385 Unspecified AKR1C2 +OMIM:600450 skos:exactMatch UMLS:C1412325 Unspecified AKR1C2 +OMIM:600450 skos:exactMatch HGNC_symbol:AKR1C2 Unspecified AKR1C2 +OMIM:612439 skos:exactMatch HGNC:661 Unspecified ARFGAP3 +OMIM:612439 skos:exactMatch UMLS:C1412513 Unspecified ARFGAP3 +OMIM:612439 skos:exactMatch HGNC_symbol:ARFGAP3 Unspecified ARFGAP3 +OMIM:267000 skos:exactMatch UMLS:C0796113 Unspecified perlman syndrome +OMIM:612437 skos:exactMatch UMLS:C2676254 Unspecified epilepsy, progressive myoclonic, 1b +OMIM:612438 skos:exactMatch UMLS:C2676244 Unspecified leukodystrophy, hypomyelinating, 6 +OMIM:612435 skos:exactMatch UMLS:C1420127 Unspecified SLCO3A1 +OMIM:612435 skos:exactMatch HGNC:10952 Unspecified SLCO3A1 +OMIM:612435 skos:exactMatch HGNC_symbol:SLCO3A1 Unspecified SLCO3A1 +OMIM:612436 skos:exactMatch UMLS:C1420128 Unspecified SLCO4A1 +OMIM:612436 skos:exactMatch HGNC:10953 Unspecified SLCO4A1 +OMIM:612436 skos:exactMatch HGNC_symbol:SLCO4A1 Unspecified SLCO4A1 +OMIM:612433 skos:exactMatch UMLS:C3888030 Unspecified deafness, autosomal recessive 45 +OMIM:612434 skos:exactMatch HGNC_symbol:CRISPLD2 Unspecified CRISPLD2 +OMIM:612434 skos:exactMatch HGNC:25248 Unspecified CRISPLD2 +OMIM:612434 skos:exactMatch UMLS:C1539139 Unspecified CRISPLD2 +OMIM:612431 skos:exactMatch UMLS:C3887929 Unspecified deafness, autosomal dominant 27 +OMIM:612432 skos:exactMatch HGNC:22004 Unspecified WIPF3 +OMIM:612432 skos:exactMatch HGNC_symbol:WIPF3 Unspecified WIPF3 +OMIM:612432 skos:exactMatch UMLS:C1823859 Unspecified WIPF3 +OMIM:612441 skos:exactMatch UMLS:C1428351 Unspecified MGAT5B +OMIM:612441 skos:exactMatch HGNC_symbol:MGAT5B Unspecified MGAT5B +OMIM:612441 skos:exactMatch HGNC:24140 Unspecified MGAT5B +OMIM:101900 skos:exactMatch UMLS:C0265971 Unspecified acrokeratosis verruciformis +OMIM:600449 skos:exactMatch HGNC_symbol:AKR1C1 Unspecified AKR1C1 +OMIM:600449 skos:exactMatch HGNC:384 Unspecified AKR1C1 +OMIM:600449 skos:exactMatch UMLS:C1412324 Unspecified AKR1C1 +OMIM:600448 skos:exactMatch HGNC_symbol:PRKCQ Unspecified PRKCQ +OMIM:600448 skos:exactMatch UMLS:C1418926 Unspecified PRKCQ +OMIM:600448 skos:exactMatch HGNC:9410 Unspecified PRKCQ +OMIM:600447 skos:exactMatch HGNC:6851 Unspecified MAP3K12 +OMIM:600447 skos:exactMatch UMLS:C1417011 Unspecified MAP3K12 +OMIM:600447 skos:exactMatch HGNC_symbol:MAP3K12 Unspecified MAP3K12 +OMIM:600446 skos:exactMatch HGNC:264 Unspecified ADORA2B +OMIM:600446 skos:exactMatch UMLS:C1412247 Unspecified ADORA2B +OMIM:600446 skos:exactMatch HGNC_symbol:ADORA2B Unspecified ADORA2B +OMIM:600445 skos:exactMatch HGNC:268 Unspecified ADORA3 +OMIM:600445 skos:exactMatch HGNC_symbol:ADORA3 Unspecified ADORA3 +OMIM:600445 skos:exactMatch UMLS:C1412251 Unspecified ADORA3 +OMIM:600444 skos:exactMatch UMLS:C1420202 Unspecified SLC5A3 +OMIM:600444 skos:exactMatch HGNC_symbol:SLC5A3 Unspecified SLC5A3 +OMIM:600444 skos:exactMatch HGNC:11038 Unspecified SLC5A3 +OMIM:600443 skos:exactMatch HGNC:4330 Unspecified GLRX +OMIM:600443 skos:exactMatch HGNC_symbol:GLRX Unspecified GLRX +OMIM:600443 skos:exactMatch UMLS:C1415111 Unspecified GLRX +OMIM:600442 skos:exactMatch UMLS:C1838359 Unspecified AQP5 +OMIM:600442 skos:exactMatch HGNC:638 Unspecified AQP5 +OMIM:600442 skos:exactMatch UMLS:C1412495 Unspecified AQP5 +OMIM:600442 skos:exactMatch HGNC_symbol:AQP5 Unspecified AQP5 +OMIM:600441 skos:exactMatch UMLS:C1414991 Unspecified GAS6 +OMIM:600441 skos:exactMatch HGNC_symbol:GAS6 Unspecified GAS6 +OMIM:600441 skos:exactMatch HGNC:4168 Unspecified GAS6 +OMIM:600462 skos:exactMatch UMLS:C4551958 Unspecified myopathy, lactic acidosis, and sideroblastic anemia 1 +OMIM:600461 skos:exactMatch UMLS:C1838120 Unspecified hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities +OMIM:600460 skos:exactMatch UMLS:C1838121 Unspecified cleft palate, cardiac defect, genital anomalies, and ectrodactyly +OMIM:269650 skos:exactMatch UMLS:C0398709 Unspecified secretory component deficiency +OMIM:612428 skos:exactMatch UMLS:C1826780 Unspecified RBM38 +OMIM:612428 skos:exactMatch HGNC_symbol:RBM38 Unspecified RBM38 +OMIM:612428 skos:exactMatch HGNC:15818 Unspecified RBM38 +OMIM:612429 skos:exactMatch HGNC_symbol:ZNF300 Unspecified ZNF300 +OMIM:612429 skos:exactMatch UMLS:C1421782 Unspecified ZNF300 +OMIM:612429 skos:exactMatch HGNC:13091 Unspecified ZNF300 +OMIM:612426 skos:exactMatch HGNC_symbol:RMI2 Unspecified RMI2 +OMIM:612426 skos:exactMatch UMLS:C1824428 Unspecified RMI2 +OMIM:612426 skos:exactMatch HGNC:28349 Unspecified RMI2 +OMIM:612427 skos:exactMatch HGNC:23244 Unspecified RBM25 +OMIM:612427 skos:exactMatch UMLS:C1538791 Unspecified RBM25 +OMIM:612427 skos:exactMatch HGNC_symbol:RBM25 Unspecified RBM25 +OMIM:612424 skos:exactMatch HGNC:21555 Unspecified EYS +OMIM:612424 skos:exactMatch HGNC_symbol:EYS Unspecified EYS +OMIM:612424 skos:exactMatch UMLS:C1427605 Unspecified EYS +OMIM:612425 skos:exactMatch UMLS:C1429002 Unspecified SGOL2 +OMIM:612425 skos:exactMatch HGNC_symbol:SGO2 Unspecified SGOL2 +OMIM:612425 skos:exactMatch HGNC:30812 Unspecified SGOL2 +OMIM:612422 skos:exactMatch UMLS:C2676271 Unspecified cardiomyopathy, familial restrictive, 3 +OMIM:612423 skos:exactMatch UMLS:C0272339 Unspecified prekallikrein deficiency +OMIM:612420 skos:exactMatch HGNC_symbol:AFAP1L2 Unspecified AFAP1L2 +OMIM:612420 skos:exactMatch UMLS:C1428531 Unspecified AFAP1L2 +OMIM:612420 skos:exactMatch HGNC:25901 Unspecified AFAP1L2 +OMIM:612421 skos:exactMatch UMLS:C2676272 Unspecified alopecia, androgenetic, 3 +OMIM:612430 skos:exactMatch HGNC_symbol:RBM22 Unspecified RBM22 +OMIM:612430 skos:exactMatch HGNC:25503 Unspecified RBM22 +OMIM:612430 skos:exactMatch UMLS:C1538787 Unspecified RBM22 +OMIM:233690 skos:exactMatch UMLS:C1856255 Unspecified granulomatous disease, chronic, autosomal recessive, 4 +OMIM:233690 skos:exactMatch ORPHA:379 Unspecified granulomatous disease, chronic, autosomal recessive, 4 +OMIM:600459 skos:exactMatch UMLS:C1838122 Unspecified arterial dissection with lentiginosis +OMIM:243050 skos:exactMatch UMLS:C1855738 Unspecified indolylacroyl glycinuria with mental retardation +OMIM:600458 skos:exactMatch UMLS:C0341858 Unspecified adenomyosis +OMIM:600457 skos:exactMatch UMLS:C1838123 Unspecified hypertrichosis, anterior cervical +OMIM:600456 skos:exactMatch HGNC_symbol:NTRK2 Unspecified NTRK2 +OMIM:600456 skos:exactMatch HGNC:8032 Unspecified NTRK2 +OMIM:600456 skos:exactMatch UMLS:C1334909 Unspecified NTRK2 +OMIM:600456 skos:exactMatch UMLS:C3151303 Unspecified NTRK2 +OMIM:600456 skos:exactMatch UMLS:C4693367 Unspecified NTRK2 +OMIM:600455 skos:exactMatch UMLS:C1419461 Unspecified RNU15A +OMIM:600455 skos:exactMatch HGNC_symbol:SNORD15A Unspecified RNU15A +OMIM:600455 skos:exactMatch HGNC:10114 Unspecified RNU15A +OMIM:600454 skos:exactMatch HGNC:10420 Unspecified RPS3 +OMIM:600454 skos:exactMatch UMLS:C1335643 Unspecified RPS3 +OMIM:600454 skos:exactMatch HGNC_symbol:RPS3 Unspecified RPS3 +OMIM:600453 skos:exactMatch UMLS:C1421638 Unspecified TRIM25 +OMIM:600453 skos:exactMatch HGNC_symbol:TRIM25 Unspecified TRIM25 +OMIM:600453 skos:exactMatch HGNC:12932 Unspecified TRIM25 +OMIM:612419 skos:exactMatch HGNC:24213 Unspecified CILP2 +OMIM:612419 skos:exactMatch HGNC_symbol:CILP2 Unspecified CILP2 +OMIM:612419 skos:exactMatch UMLS:C1428358 Unspecified CILP2 +OMIM:612417 skos:exactMatch UMLS:C2676275 Unspecified narcolepsy 4, susceptibility to +OMIM:612418 skos:exactMatch UMLS:C3279699 Unspecified TMEM70 +OMIM:612418 skos:exactMatch HGNC_symbol:TMEM70 Unspecified TMEM70 +OMIM:612418 skos:exactMatch UMLS:C1823334 Unspecified TMEM70 +OMIM:612418 skos:exactMatch HGNC:26050 Unspecified TMEM70 +OMIM:612415 skos:exactMatch UMLS:C1419194 Unspecified RAB24 +OMIM:612415 skos:exactMatch HGNC_symbol:RAB24 Unspecified RAB24 +OMIM:612415 skos:exactMatch HGNC:9765 Unspecified RAB24 +OMIM:612416 skos:exactMatch UMLS:C0015523 Unspecified factor 11 deficiency +OMIM:231070 skos:exactMatch UMLS:C0432255 Unspecified geroderma osteodysplasticum +OMIM:231070 skos:exactMatch ORPHA:2078 Unspecified geroderma osteodysplasticum +OMIM:612413 skos:exactMatch UMLS:C1419302 Unspecified RBM7 +OMIM:612413 skos:exactMatch HGNC:9904 Unspecified RBM7 +OMIM:612413 skos:exactMatch HGNC_symbol:RBM7 Unspecified RBM7 +OMIM:612414 skos:exactMatch UMLS:C2676276 Unspecified LRTOMT +OMIM:612414 skos:exactMatch HGNC_symbol:LRTOMT Unspecified LRTOMT +OMIM:612414 skos:exactMatch HGNC:25033 Unspecified LRTOMT +OMIM:612411 skos:exactMatch HGNC_symbol:FAT4 Unspecified FAT4 +OMIM:612411 skos:exactMatch HGNC:23109 Unspecified FAT4 +OMIM:612411 skos:exactMatch UMLS:C1427920 Unspecified FAT4 +OMIM:612412 skos:exactMatch UMLS:C1412978 Unspecified SPATC1L +OMIM:612412 skos:exactMatch HGNC_symbol:SPATC1L Unspecified SPATC1L +OMIM:612412 skos:exactMatch UMLS:C2986382 Unspecified SPATC1L +OMIM:612412 skos:exactMatch HGNC:1298 Unspecified SPATC1L +OMIM:218090 skos:exactMatch UMLS:C1857532 Unspecified crane-heise syndrome +OMIM:612410 skos:exactMatch UMLS:C3888028 Unspecified psoriasis 10, susceptibility to +OMIM:600429 skos:exactMatch HGNC:4204 Unspecified GCNT2 +OMIM:600429 skos:exactMatch HGNC_symbol:GCNT2 Unspecified GCNT2 +OMIM:600429 skos:exactMatch UMLS:C1415022 Unspecified GCNT2 +OMIM:600428 skos:exactMatch HGNC:12658 Unspecified VAV2 +OMIM:600428 skos:exactMatch HGNC_symbol:VAV2 Unspecified VAV2 +OMIM:600428 skos:exactMatch UMLS:C0812239 Unspecified VAV2 +OMIM:600427 skos:exactMatch HGNC_symbol:E2F3 Unspecified E2F3 +OMIM:600427 skos:exactMatch HGNC:3115 Unspecified E2F3 +OMIM:600427 skos:exactMatch UMLS:C1414224 Unspecified E2F3 +OMIM:600426 skos:exactMatch HGNC:3114 Unspecified E2F2 +OMIM:600426 skos:exactMatch UMLS:C1414223 Unspecified E2F2 +OMIM:600426 skos:exactMatch HGNC_symbol:E2F2 Unspecified E2F2 +OMIM:600424 skos:exactMatch UMLS:C1420117 Unspecified SLC19A1 +OMIM:600424 skos:exactMatch HGNC_symbol:SLC19A1 Unspecified SLC19A1 +OMIM:600424 skos:exactMatch HGNC:10937 Unspecified SLC19A1 +OMIM:600423 skos:exactMatch HGNC_symbol:ECE1 Unspecified ECE1 +OMIM:600423 skos:exactMatch HGNC:3146 Unspecified ECE1 +OMIM:600423 skos:exactMatch UMLS:C1414244 Unspecified ECE1 +OMIM:600422 skos:exactMatch HGNC_symbol:FABP6 Unspecified FABP6 +OMIM:600422 skos:exactMatch HGNC:3561 Unspecified FABP6 +OMIM:600422 skos:exactMatch UMLS:C1414515 Unspecified FABP6 +OMIM:600421 skos:exactMatch HGNC:4328 Unspecified GLRA3 +OMIM:600421 skos:exactMatch HGNC_symbol:GLRA3 Unspecified GLRA3 +OMIM:600421 skos:exactMatch UMLS:C1415109 Unspecified GLRA3 +OMIM:600440 skos:exactMatch HGNC:3346 Unspecified ENDOG +OMIM:600440 skos:exactMatch UMLS:C1414399 Unspecified ENDOG +OMIM:600440 skos:exactMatch HGNC_symbol:ENDOG Unspecified ENDOG +OMIM:612408 skos:exactMatch UMLS:C1426856 Unspecified PSPC1 +OMIM:612408 skos:exactMatch HGNC_symbol:PSPC1 Unspecified PSPC1 +OMIM:612408 skos:exactMatch HGNC:20320 Unspecified PSPC1 +OMIM:612409 skos:exactMatch HGNC:14219 Unspecified RBM14 +OMIM:612409 skos:exactMatch HGNC_symbol:RBM14 Unspecified RBM14 +OMIM:612409 skos:exactMatch UMLS:C1422492 Unspecified RBM14 +OMIM:612406 skos:exactMatch UMLS:C2676281 Unspecified dystonia 17, torsion, autosomal recessive +OMIM:269630 skos:exactMatch UMLS:C1849259 Unspecified second metatarsal-metacarpal syndrome +OMIM:612407 skos:exactMatch HGNC:26839 Unspecified RGS21 +OMIM:612407 skos:exactMatch UMLS:C1538836 Unspecified RGS21 +OMIM:612407 skos:exactMatch HGNC_symbol:RGS21 Unspecified RGS21 +OMIM:231060 skos:exactMatch UMLS:C1856466 Unspecified genitopalatocardiac syndrome +OMIM:612404 skos:exactMatch HGNC:23804 Unspecified RASL11B +OMIM:612404 skos:exactMatch UMLS:C1428271 Unspecified RASL11B +OMIM:612404 skos:exactMatch HGNC_symbol:RASL11B Unspecified RASL11B +OMIM:612405 skos:exactMatch HGNC_symbol:ARL9 Unspecified ARL9 +OMIM:612405 skos:exactMatch HGNC:23592 Unspecified ARL9 +OMIM:612405 skos:exactMatch UMLS:C1428141 Unspecified ARL9 +OMIM:612402 skos:exactMatch UMLS:C1427028 Unspecified ALS2CL +OMIM:612402 skos:exactMatch HGNC_symbol:ALS2CL Unspecified ALS2CL +OMIM:612402 skos:exactMatch HGNC:20605 Unspecified ALS2CL +OMIM:612403 skos:exactMatch HGNC:23802 Unspecified RASL11A +OMIM:612403 skos:exactMatch HGNC_symbol:RASL11A Unspecified RASL11A +OMIM:612403 skos:exactMatch UMLS:C1428270 Unspecified RASL11A +OMIM:612400 skos:exactMatch UMLS:C4759728 Unspecified osteoarthritis susceptibility 5 +OMIM:612401 skos:exactMatch UMLS:C0409959 Unspecified osteoarthritis susceptibility 6 +OMIM:600439 skos:exactMatch HGNC:11317 Unspecified SSBP1 +OMIM:600439 skos:exactMatch UMLS:C1420424 Unspecified SSBP1 +OMIM:600439 skos:exactMatch UMLS:C5435585 Unspecified SSBP1 +OMIM:600439 skos:exactMatch UMLS:C2986382 Unspecified SSBP1 +OMIM:600439 skos:exactMatch HGNC_symbol:SSBP1 Unspecified SSBP1 +OMIM:600438 skos:exactMatch UMLS:C4310690 Unspecified TFAM +OMIM:600438 skos:exactMatch HGNC:11741 Unspecified TFAM +OMIM:600438 skos:exactMatch UMLS:C1420696 Unspecified TFAM +OMIM:600438 skos:exactMatch HGNC_symbol:TFAM Unspecified TFAM +OMIM:231050 skos:exactMatch UMLS:C3278147 Unspecified geleophysic dysplasia 1 +OMIM:600437 skos:exactMatch HGNC:4642 Unspecified GSTT2 +OMIM:600437 skos:exactMatch UMLS:C1415340 Unspecified GSTT2 +OMIM:600437 skos:exactMatch HGNC_symbol:GSTT2 Unspecified GSTT2 +OMIM:600436 skos:exactMatch UMLS:C1333715 Unspecified GSTT1 +OMIM:600436 skos:exactMatch HGNC:4641 Unspecified GSTT1 +OMIM:600436 skos:exactMatch HGNC_symbol:GSTT1 Unspecified GSTT1 +OMIM:600435 skos:exactMatch HGNC_symbol:CTF1 Unspecified CTF1 +OMIM:600435 skos:exactMatch UMLS:C1332801 Unspecified CTF1 +OMIM:600435 skos:exactMatch HGNC:2499 Unspecified CTF1 +OMIM:600434 skos:exactMatch HGNC:3559 Unspecified FABP4 +OMIM:600434 skos:exactMatch HGNC_symbol:FABP4 Unspecified FABP4 +OMIM:600434 skos:exactMatch UMLS:C1333527 Unspecified FABP4 +OMIM:600433 skos:exactMatch HGNC_symbol:CBLN2 Unspecified CBLN2 +OMIM:600433 skos:exactMatch UMLS:C1413152 Unspecified CBLN2 +OMIM:600433 skos:exactMatch HGNC:1544 Unspecified CBLN2 +OMIM:600432 skos:exactMatch HGNC_symbol:CBLN1 Unspecified CBLN1 +OMIM:600432 skos:exactMatch HGNC:1543 Unspecified CBLN1 +OMIM:600432 skos:exactMatch UMLS:C1413151 Unspecified CBLN1 +OMIM:600431 skos:exactMatch UMLS:C0809183 Unspecified CDKN2B +OMIM:600431 skos:exactMatch HGNC_symbol:CDKN2B Unspecified CDKN2B +OMIM:600431 skos:exactMatch HGNC:1788 Unspecified CDKN2B +OMIM:600430 skos:exactMatch UMLS:C2931817 Unspecified chromosome 2q37 deletion syndrome +OMIM:600495 skos:exactMatch HGNC_symbol:EIF4G1 Unspecified EIF4G1 +OMIM:600495 skos:exactMatch HGNC:3296 Unspecified EIF4G1 +OMIM:600495 skos:exactMatch UMLS:C1414356 Unspecified EIF4G1 +OMIM:600494 skos:exactMatch HGNC_symbol:POU3F2 Unspecified POU3F2 +OMIM:600494 skos:exactMatch UMLS:C1418762 Unspecified POU3F2 +OMIM:600494 skos:exactMatch HGNC:9215 Unspecified POU3F2 +OMIM:600493 skos:exactMatch HGNC:3336 Unspecified ADGRE1 +OMIM:600493 skos:exactMatch HGNC_symbol:ADGRE1 Unspecified ADGRE1 +OMIM:600493 skos:exactMatch UMLS:C1414390 Unspecified ADGRE1 +OMIM:600492 skos:exactMatch HGNC:7782 Unspecified NFE2L2 +OMIM:600492 skos:exactMatch HGNC_symbol:NFE2L2 Unspecified NFE2L2 +OMIM:600492 skos:exactMatch UMLS:C1417701 Unspecified NFE2L2 +OMIM:245650 skos:exactMatch UMLS:C1855535 Unspecified larsen-like syndrome, lethal iia +OMIM:600491 skos:exactMatch UMLS:C1417128 Unspecified MFAP3 +OMIM:600491 skos:exactMatch HGNC_symbol:MFAP3 Unspecified MFAP3 +OMIM:600491 skos:exactMatch HGNC:7034 Unspecified MFAP3 +OMIM:600490 skos:exactMatch HGNC:7776 Unspecified NFATC2 +OMIM:600490 skos:exactMatch UMLS:C1417695 Unspecified NFATC2 +OMIM:600490 skos:exactMatch HGNC_symbol:NFATC2 Unspecified NFATC2 +OMIM:218030 skos:exactMatch UMLS:C3887949 Unspecified apparent mineralocorticoid excess +OMIM:612477 skos:exactMatch HGNC:25251 Unspecified IQCG +OMIM:612477 skos:exactMatch HGNC_symbol:IQCG Unspecified IQCG +OMIM:612477 skos:exactMatch UMLS:C1537417 Unspecified IQCG +OMIM:612477 skos:exactMatch UMLS:C4225435 Unspecified IQCG +OMIM:612478 skos:exactMatch HGNC_symbol:NECAB3 Unspecified NECAB3 +OMIM:612478 skos:exactMatch HGNC:15851 Unspecified NECAB3 +OMIM:612478 skos:exactMatch UMLS:C1423773 Unspecified NECAB3 +OMIM:612475 skos:exactMatch UMLS:C2675891 Unspecified chromosome 1q21.1 duplication syndrome +OMIM:314000 skos:exactMatch UMLS:C1839162 Unspecified thrombocytopenia with elevated serum iga and renal disease +OMIM:612476 skos:exactMatch HGNC_symbol:BATF Unspecified BATF +OMIM:612476 skos:exactMatch HGNC:958 Unspecified BATF +OMIM:612476 skos:exactMatch UMLS:C1412740 Unspecified BATF +OMIM:612484 skos:exactMatch HGNC_symbol:RNASE7 Unspecified RNASE7 +OMIM:612484 skos:exactMatch HGNC:19278 Unspecified RNASE7 +OMIM:612484 skos:exactMatch UMLS:C1426140 Unspecified RNASE7 +OMIM:612485 skos:exactMatch HGNC_symbol:RNASE8 Unspecified RNASE8 +OMIM:612485 skos:exactMatch HGNC:19277 Unspecified RNASE8 +OMIM:612485 skos:exactMatch UMLS:C1426139 Unspecified RNASE8 +OMIM:612482 skos:exactMatch UMLS:C1425565 Unspecified RNF43 +OMIM:612482 skos:exactMatch HGNC_symbol:RNF43 Unspecified RNF43 +OMIM:612482 skos:exactMatch HGNC:18505 Unspecified RNF43 +OMIM:231000 skos:exactMatch ORPHA:77261 Unspecified gaucher disease, iia 3 +OMIM:231000 skos:exactMatch UMLS:C0268251 Unspecified gaucher disease, iia 3 +OMIM:231000 skos:exactMatch ORPHA:355 Unspecified gaucher disease, iia 3 +OMIM:612483 skos:exactMatch HGNC_symbol:FAT3 Unspecified FAT3 +OMIM:612483 skos:exactMatch HGNC:23112 Unspecified FAT3 +OMIM:612483 skos:exactMatch UMLS:C1427923 Unspecified FAT3 +OMIM:612480 skos:exactMatch HGNC:23696 Unspecified TIPARP +OMIM:612480 skos:exactMatch UMLS:C1428200 Unspecified TIPARP +OMIM:612480 skos:exactMatch HGNC_symbol:TIPARP Unspecified TIPARP +OMIM:612481 skos:exactMatch HGNC_symbol:PARP12 Unspecified PARP12 +OMIM:612481 skos:exactMatch UMLS:C1826543 Unspecified PARP12 +OMIM:612481 skos:exactMatch HGNC:21919 Unspecified PARP12 +OMIM:600489 skos:exactMatch HGNC_symbol:NFATC1 Unspecified NFATC1 +OMIM:600489 skos:exactMatch HGNC:7775 Unspecified NFATC1 +OMIM:600489 skos:exactMatch UMLS:C1417694 Unspecified NFATC1 +OMIM:600488 skos:exactMatch HGNC:8747 Unspecified PCSK5 +OMIM:600488 skos:exactMatch UMLS:C1418391 Unspecified PCSK5 +OMIM:600488 skos:exactMatch HGNC_symbol:PCSK5 Unspecified PCSK5 +OMIM:302020 skos:exactMatch HGNC:1436 Unspecified S100G +OMIM:302020 skos:exactMatch UMLS:C1539718 Unspecified S100G +OMIM:302020 skos:exactMatch HGNC_symbol:S100G Unspecified S100G +OMIM:600487 skos:exactMatch HGNC:8746 Unspecified PCSK4 +OMIM:600487 skos:exactMatch UMLS:C1418390 Unspecified PCSK4 +OMIM:600487 skos:exactMatch HGNC_symbol:PCSK4 Unspecified PCSK4 +OMIM:231005 skos:exactMatch ORPHA:2072 Unspecified gaucher disease, iia 3c +OMIM:231005 skos:exactMatch ORPHA:355 Unspecified gaucher disease, iia 3c +OMIM:231005 skos:exactMatch UMLS:C1856476 Unspecified gaucher disease, iia 3c +OMIM:243000 skos:exactMatch UMLS:C1855739 Unspecified indifference to pain, congenital, autosomal recessive +OMIM:243000 skos:exactMatch UMLS:C4012054 Unspecified indifference to pain, congenital, autosomal recessive +OMIM:245660 skos:exactMatch UMLS:C1328355 Unspecified epidermolysis bullosa, junctional 2c, laryngoonychocutaneous +OMIM:218040 skos:exactMatch UMLS:C0587248 Unspecified costello syndrome +OMIM:218040 skos:exactMatch UMLS:C1968782 Unspecified costello syndrome +OMIM:218040 skos:exactMatch ORPHA:3071 Unspecified costello syndrome +OMIM:612468 skos:exactMatch HGNC:29606 Unspecified GBP7 +OMIM:612468 skos:exactMatch HGNC_symbol:GBP7 Unspecified GBP7 +OMIM:612468 skos:exactMatch UMLS:C1825338 Unspecified GBP7 +OMIM:612469 skos:exactMatch UMLS:C2675904 Unspecified wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome +OMIM:612466 skos:exactMatch HGNC:20480 Unspecified GBP4 +OMIM:612466 skos:exactMatch UMLS:C1426964 Unspecified GBP4 +OMIM:612466 skos:exactMatch HGNC_symbol:GBP4 Unspecified GBP4 +OMIM:612467 skos:exactMatch HGNC:25395 Unspecified GBP6 +OMIM:612467 skos:exactMatch HGNC_symbol:GBP6 Unspecified GBP6 +OMIM:612467 skos:exactMatch UMLS:C1539555 Unspecified GBP6 +OMIM:612464 skos:exactMatch UMLS:C1428822 Unspecified ARRDC3 +OMIM:612464 skos:exactMatch HGNC_symbol:ARRDC3 Unspecified ARRDC3 +OMIM:612464 skos:exactMatch HGNC:29263 Unspecified ARRDC3 +OMIM:612465 skos:exactMatch UMLS:C2986382 Unspecified TBC1D4 +OMIM:612465 skos:exactMatch UMLS:C1426056 Unspecified TBC1D4 +OMIM:612465 skos:exactMatch HGNC_symbol:TBC1D4 Unspecified TBC1D4 +OMIM:612465 skos:exactMatch HGNC:19165 Unspecified TBC1D4 +OMIM:612465 skos:exactMatch UMLS:C5436964 Unspecified TBC1D4 +OMIM:612473 skos:exactMatch UMLS:C2675903 Unspecified PEBP4 +OMIM:612473 skos:exactMatch HGNC_symbol:PEBP4 Unspecified PEBP4 +OMIM:612473 skos:exactMatch HGNC:28319 Unspecified PEBP4 +OMIM:612474 skos:exactMatch UMLS:C2675897 Unspecified chromosome 1q21.1 deletion syndrome, 1.35-mb +OMIM:612471 skos:exactMatch HGNC:14412 Unspecified AGXT2 +OMIM:612471 skos:exactMatch UMLS:C1422631 Unspecified AGXT2 +OMIM:612471 skos:exactMatch HGNC_symbol:AGXT2 Unspecified AGXT2 +OMIM:612472 skos:exactMatch HGNC_symbol:METTL3 Unspecified METTL3 +OMIM:612472 skos:exactMatch UMLS:C1424999 Unspecified METTL3 +OMIM:612472 skos:exactMatch HGNC:17563 Unspecified METTL3 +OMIM:612470 skos:exactMatch HGNC:28915 Unspecified BATF3 +OMIM:612470 skos:exactMatch UMLS:C2240205 Unspecified BATF3 +OMIM:612470 skos:exactMatch HGNC_symbol:BATF3 Unspecified BATF3 +OMIM:233650 skos:exactMatch UMLS:C2673536 Unspecified combined cellular and humoral immune defects with granulomas +OMIM:600497 skos:exactMatch UMLS:C1418898 Unspecified PRKAA2 +OMIM:600497 skos:exactMatch HGNC_symbol:PRKAA2 Unspecified PRKAA2 +OMIM:600497 skos:exactMatch HGNC:9377 Unspecified PRKAA2 +OMIM:270600 skos:exactMatch UMLS:C1849139 Unspecified spastic diplegia and mental retardation +OMIM:600496 skos:exactMatch UMLS:C1838100 Unspecified maturity-onset diabetes of the young, iia 3 +OMIM:302030 skos:exactMatch UMLS:C1863351 Unspecified calvarial hyperostosis +OMIM:600473 skos:exactMatch UMLS:C1335290 Unspecified PURA +OMIM:600473 skos:exactMatch HGNC:9701 Unspecified PURA +OMIM:600473 skos:exactMatch HGNC_symbol:PURA Unspecified PURA +OMIM:600472 skos:exactMatch UMLS:C1413976 Unspecified DEFA5 +OMIM:600472 skos:exactMatch HGNC_symbol:DEFA5 Unspecified DEFA5 +OMIM:600472 skos:exactMatch HGNC:2764 Unspecified DEFA5 +OMIM:600471 skos:exactMatch UMLS:C1413977 Unspecified DEFA6 +OMIM:600471 skos:exactMatch HGNC_symbol:DEFA6 Unspecified DEFA6 +OMIM:600471 skos:exactMatch HGNC:2765 Unspecified DEFA6 +OMIM:269600 skos:exactMatch UMLS:C0036489 Unspecified sea-blue histiocyte disease +OMIM:600470 skos:exactMatch HGNC_symbol:ZIC1 Unspecified ZIC1 +OMIM:600470 skos:exactMatch UMLS:C5231485 Unspecified ZIC1 +OMIM:600470 skos:exactMatch HGNC:12872 Unspecified ZIC1 +OMIM:600470 skos:exactMatch UMLS:C4225269 Unspecified ZIC1 +OMIM:600470 skos:exactMatch UMLS:C1421581 Unspecified ZIC1 +OMIM:612459 skos:exactMatch UMLS:C2675915 Unspecified body mass index quantitative trait locus 13 +OMIM:218050 skos:exactMatch UMLS:C1857533 Unspecified cramps, familial adolescent +OMIM:612457 skos:exactMatch HGNC:14350 Unspecified ARID3B +OMIM:612457 skos:exactMatch HGNC_symbol:ARID3B Unspecified ARID3B +OMIM:612457 skos:exactMatch UMLS:C1422585 Unspecified ARID3B +OMIM:612458 skos:exactMatch UMLS:C1538908 Unspecified ACTL6B +OMIM:612458 skos:exactMatch HGNC_symbol:ACTL6B Unspecified ACTL6B +OMIM:612458 skos:exactMatch HGNC:160 Unspecified ACTL6B +OMIM:612458 skos:exactMatch UMLS:C5193115 Unspecified ACTL6B +OMIM:612458 skos:exactMatch UMLS:C5193113 Unspecified ACTL6B +OMIM:612455 skos:exactMatch HGNC:28750 Unspecified SLC5A12 +OMIM:612455 skos:exactMatch HGNC_symbol:SLC5A12 Unspecified SLC5A12 +OMIM:612455 skos:exactMatch UMLS:C1539777 Unspecified SLC5A12 +OMIM:137800 skos:exactMatch ORPHA:301 Unspecified glioma susceptibility 1 +OMIM:137800 skos:exactMatch ORPHA:360 Unspecified glioma susceptibility 1 +OMIM:137800 skos:exactMatch UMLS:C1842010 Unspecified glioma susceptibility 1 +OMIM:137800 skos:exactMatch UMLS:C1621958 Unspecified glioma susceptibility 1 +OMIM:137800 skos:exactMatch ORPHA:251627 Unspecified glioma susceptibility 1 +OMIM:137800 skos:exactMatch ORPHA:251630 Unspecified glioma susceptibility 1 +OMIM:137800 skos:exactMatch UMLS:C2750850 Unspecified glioma susceptibility 1 +OMIM:137800 skos:exactMatch ORPHA:94 Unspecified glioma susceptibility 1 +OMIM:137800 skos:exactMatch ORPHA:182067 Unspecified glioma susceptibility 1 +OMIM:612456 skos:exactMatch UMLS:C1824092 Unspecified APOLD1 +OMIM:612456 skos:exactMatch HGNC_symbol:APOLD1 Unspecified APOLD1 +OMIM:612456 skos:exactMatch HGNC:25268 Unspecified APOLD1 +OMIM:612453 skos:exactMatch UMLS:C1825964 Unspecified MEGF10 +OMIM:612453 skos:exactMatch HGNC:29634 Unspecified MEGF10 +OMIM:612453 skos:exactMatch HGNC_symbol:MEGF10 Unspecified MEGF10 +OMIM:612454 skos:exactMatch UMLS:C1825965 Unspecified MEGF11 +OMIM:612454 skos:exactMatch HGNC:29635 Unspecified MEGF11 +OMIM:612454 skos:exactMatch HGNC_symbol:MEGF11 Unspecified MEGF11 +OMIM:612462 skos:exactMatch UMLS:C2932716 Unspecified pseudohypoparathyroidism, iia 1c +OMIM:612463 skos:exactMatch UMLS:C0033835 Unspecified pseudopseudohypoparathyroidism +OMIM:612460 skos:exactMatch UMLS:C2675914 Unspecified body mass index quantitative trait locus 14 +OMIM:612461 skos:exactMatch UMLS:C1412501 Unspecified ARC +OMIM:612461 skos:exactMatch HGNC_symbol:ARC Unspecified ARC +OMIM:612461 skos:exactMatch HGNC:648 Unspecified ARC +OMIM:600469 skos:exactMatch UMLS:C1417606 Unspecified NCBP1 +OMIM:600469 skos:exactMatch HGNC:7658 Unspecified NCBP1 +OMIM:600469 skos:exactMatch HGNC_symbol:NCBP1 Unspecified NCBP1 +OMIM:600467 skos:exactMatch UMLS:C1838102 Unspecified malignant hyperthermia, susceptibility to, 4 +OMIM:600466 skos:exactMatch HGNC:410 Unspecified ALDH3B1 +OMIM:600466 skos:exactMatch HGNC_symbol:ALDH3B1 Unspecified ALDH3B1 +OMIM:600466 skos:exactMatch UMLS:C1412341 Unspecified ALDH3B1 +OMIM:600465 skos:exactMatch HGNC:494 Unspecified ANK3 +OMIM:600465 skos:exactMatch UMLS:C2986382 Unspecified ANK3 +OMIM:600465 skos:exactMatch UMLS:C3809672 Unspecified ANK3 +OMIM:600465 skos:exactMatch UMLS:C1412404 Unspecified ANK3 +OMIM:600465 skos:exactMatch HGNC_symbol:ANK3 Unspecified ANK3 +OMIM:600464 skos:exactMatch HGNC:659 Unspecified ARF6 +OMIM:600464 skos:exactMatch UMLS:C1412511 Unspecified ARF6 +OMIM:600464 skos:exactMatch HGNC_symbol:ARF6 Unspecified ARF6 +OMIM:600463 skos:exactMatch HGNC:409 Unspecified ALDH1A3 +OMIM:600463 skos:exactMatch UMLS:C1412340 Unspecified ALDH1A3 +OMIM:600463 skos:exactMatch HGNC_symbol:ALDH1A3 Unspecified ALDH1A3 +OMIM:600483 skos:exactMatch UMLS:C1333539 Unspecified FGF8 +OMIM:600483 skos:exactMatch HGNC_symbol:FGF8 Unspecified FGF8 +OMIM:600483 skos:exactMatch HGNC:3686 Unspecified FGF8 +OMIM:302000 skos:exactMatch UMLS:C0795974 Unspecified bullous dystrophy, hereditary macular iia +OMIM:600481 skos:exactMatch HGNC:11290 Unspecified SREBF2 +OMIM:600481 skos:exactMatch HGNC_symbol:SREBF2 Unspecified SREBF2 +OMIM:600481 skos:exactMatch UMLS:C1420399 Unspecified SREBF2 +OMIM:600480 skos:exactMatch HGNC_symbol:TCF12 Unspecified TCF12 +OMIM:600480 skos:exactMatch HGNC:11623 Unspecified TCF12 +OMIM:600480 skos:exactMatch UMLS:C1838101 Unspecified TCF12 +OMIM:600480 skos:exactMatch UMLS:C1420632 Unspecified TCF12 +OMIM:612448 skos:exactMatch UMLS:C2676230 Unspecified age-related hearing impairment 1 +OMIM:612449 skos:exactMatch UMLS:C2239486 Unspecified GEN1 +OMIM:612449 skos:exactMatch HGNC:26881 Unspecified GEN1 +OMIM:612449 skos:exactMatch HGNC_symbol:GEN1 Unspecified GEN1 +OMIM:612446 skos:exactMatch UMLS:C2676232 Unspecified complement component 6 deficiency +OMIM:612446 skos:exactMatch UMLS:C2676233 Unspecified complement component 6 deficiency +OMIM:612447 skos:exactMatch UMLS:C2676231 Unspecified skeletal defects, genital hypoplasia, and impaired intellectual development +OMIM:612444 skos:exactMatch UMLS:C2676235 Unspecified ciliary dyskinesia, primary, 9 +OMIM:612445 skos:exactMatch UMLS:C2676234 Unspecified scoliosis, arachnodactyly, and blindness +OMIM:612442 skos:exactMatch HGNC:20260 Unspecified SEC22A +OMIM:612442 skos:exactMatch UMLS:C1822667 Unspecified SEC22A +OMIM:612442 skos:exactMatch HGNC_symbol:SEC22A Unspecified SEC22A +OMIM:612451 skos:exactMatch HGNC:13094 Unspecified RNF114 +OMIM:612451 skos:exactMatch HGNC_symbol:RNF114 Unspecified RNF114 +OMIM:612451 skos:exactMatch UMLS:C1421785 Unspecified RNF114 +OMIM:612452 skos:exactMatch HGNC_symbol:KANSL1 Unspecified KANSL1 +OMIM:612452 skos:exactMatch HGNC:24565 Unspecified KANSL1 +OMIM:612452 skos:exactMatch UMLS:C1825683 Unspecified KANSL1 +OMIM:612450 skos:exactMatch UMLS:C1415488 Unspecified HBS1L +OMIM:612450 skos:exactMatch HGNC_symbol:HBS1L Unspecified HBS1L +OMIM:612450 skos:exactMatch HGNC:4834 Unspecified HBS1L +OMIM:551000 skos:exactMatch UMLS:C1838876 Unspecified mitochondrial myopathy, lethal, infantile +OMIM:600478 skos:exactMatch HGNC:10898 Unspecified SKIV2L +OMIM:600478 skos:exactMatch HGNC_symbol:SKIV2L Unspecified SKIV2L +OMIM:600478 skos:exactMatch UMLS:C1335829 Unspecified SKIV2L +OMIM:600477 skos:exactMatch HGNC_symbol:SLC9A5 Unspecified SLC9A5 +OMIM:600477 skos:exactMatch HGNC:11078 Unspecified SLC9A5 +OMIM:600477 skos:exactMatch UMLS:C1420239 Unspecified SLC9A5 +OMIM:600475 skos:exactMatch UMLS:C1336560 Unspecified TAF10 +OMIM:600475 skos:exactMatch HGNC:11543 Unspecified TAF10 +OMIM:600475 skos:exactMatch HGNC_symbol:TAF10 Unspecified TAF10 +OMIM:600474 skos:exactMatch HGNC:1472 Unspecified CAMP +OMIM:600474 skos:exactMatch UMLS:C1413106 Unspecified CAMP +OMIM:600474 skos:exactMatch HGNC_symbol:CAMP Unspecified CAMP +OMIM:218000 skos:exactMatch UMLS:C0795950 Unspecified agenesis of the corpus callosum with peripheral neuropathy +OMIM:150800 skos:exactMatch UMLS:C1708350 Unspecified hereditary leiomyomatosis and renal cell cancer +OMIM:150800 skos:exactMatch ORPHA:523 Unspecified hereditary leiomyomatosis and renal cell cancer +OMIM:257600 skos:exactMatch UMLS:C1850341 Unspecified ocular myopathy with curare sensitivity +OMIM:218010 skos:exactMatch UMLS:C1857568 Unspecified cortical blindness, retardation, and postaxial polydactyly +OMIM:612499 skos:exactMatch HGNC:30217 Unspecified DIMT1 +OMIM:612499 skos:exactMatch UMLS:C1824936 Unspecified DIMT1 +OMIM:612499 skos:exactMatch HGNC_symbol:DIMT1 Unspecified DIMT1 +OMIM:612497 skos:exactMatch HGNC:30728 Unspecified None +OMIM:612497 skos:exactMatch UMLS:C2675889 Unspecified None +OMIM:612497 skos:exactMatch HGNC_symbol:NSA2 Unspecified None +OMIM:612498 skos:exactMatch UMLS:C4310754 Unspecified ADSS1 +OMIM:612498 skos:exactMatch HGNC:20093 Unspecified ADSS1 +OMIM:612498 skos:exactMatch HGNC_symbol:ADSS1 Unspecified ADSS1 +OMIM:612498 skos:exactMatch UMLS:C1426678 Unspecified ADSS1 +OMIM:162800 skos:exactMatch UMLS:C0221023 Unspecified cyclic neutropenia +OMIM:612488 skos:exactMatch UMLS:C1425266 Unspecified RNF38 +OMIM:612488 skos:exactMatch HGNC_symbol:RNF38 Unspecified RNF38 +OMIM:612488 skos:exactMatch HGNC:18052 Unspecified RNF38 +OMIM:612489 skos:exactMatch HGNC:13779 Unspecified RNF24 +OMIM:612489 skos:exactMatch UMLS:C1422191 Unspecified RNF24 +OMIM:612489 skos:exactMatch HGNC_symbol:RNF24 Unspecified RNF24 +OMIM:612486 skos:exactMatch UMLS:C1539224 Unspecified DCHS2 +OMIM:612486 skos:exactMatch HGNC:23111 Unspecified DCHS2 +OMIM:612486 skos:exactMatch HGNC_symbol:DCHS2 Unspecified DCHS2 +OMIM:245600 skos:exactMatch ORPHA:284139 Unspecified multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects +OMIM:245600 skos:exactMatch UMLS:C3278404 Unspecified multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects +OMIM:612487 skos:exactMatch HGNC_symbol:RNF31 Unspecified RNF31 +OMIM:612487 skos:exactMatch UMLS:C1423923 Unspecified RNF31 +OMIM:612487 skos:exactMatch HGNC:16031 Unspecified RNF31 +OMIM:612495 skos:exactMatch HGNC_symbol:UBE3D Unspecified UBE3D +OMIM:612495 skos:exactMatch HGNC:21381 Unspecified UBE3D +OMIM:612495 skos:exactMatch UMLS:C1427527 Unspecified UBE3D +OMIM:612496 skos:exactMatch HGNC:26604 Unspecified ARHGEF19 +OMIM:612496 skos:exactMatch HGNC_symbol:ARHGEF19 Unspecified ARHGEF19 +OMIM:612496 skos:exactMatch UMLS:C1428610 Unspecified ARHGEF19 +OMIM:612493 skos:exactMatch UMLS:C1824766 Unspecified CNPY1 +OMIM:612493 skos:exactMatch HGNC:27786 Unspecified CNPY1 +OMIM:612493 skos:exactMatch HGNC_symbol:CNPY1 Unspecified CNPY1 +OMIM:612494 skos:exactMatch HGNC:25540 Unspecified ARHGEF10L +OMIM:612494 skos:exactMatch UMLS:C1824200 Unspecified ARHGEF10L +OMIM:612494 skos:exactMatch HGNC_symbol:ARHGEF10L Unspecified ARHGEF10L +OMIM:612491 skos:exactMatch HGNC_symbol:APIP Unspecified APIP +OMIM:612491 skos:exactMatch UMLS:C1824090 Unspecified APIP +OMIM:612491 skos:exactMatch HGNC:17581 Unspecified APIP +OMIM:612492 skos:exactMatch HGNC:20065 Unspecified USP30 +OMIM:612492 skos:exactMatch HGNC_symbol:USP30 Unspecified USP30 +OMIM:612492 skos:exactMatch UMLS:C1426653 Unspecified USP30 +OMIM:612490 skos:exactMatch UMLS:C2239895 Unspecified RNF181 +OMIM:612490 skos:exactMatch HGNC_symbol:RNF181 Unspecified RNF181 +OMIM:612490 skos:exactMatch HGNC:28037 Unspecified RNF181 +OMIM:174800 skos:exactMatch UMLS:C0242292 Unspecified mccune-albright syndrome +OMIM:174800 skos:exactMatch UMLS:C0016065 Unspecified mccune-albright syndrome +OMIM:123295 skos:exactMatch UMLS:C1413437 Unspecified CKMT2 +OMIM:123295 skos:exactMatch HGNC:1996 Unspecified CKMT2 +OMIM:123295 skos:exactMatch HGNC_symbol:CKMT2 Unspecified CKMT2 +OMIM:123290 skos:exactMatch HGNC_symbol:CKMT1B Unspecified CKMT1B +OMIM:123290 skos:exactMatch HGNC:1995 Unspecified CKMT1B +OMIM:123290 skos:exactMatch UMLS:C1538468 Unspecified CKMT1B +OMIM:162815 skos:exactMatch UMLS:C1332127 Unspecified NAZC +OMIM:162815 skos:exactMatch HGNC_symbol:AZU1 Unspecified NAZC +OMIM:162815 skos:exactMatch HGNC:913 Unspecified NAZC +OMIM:123280 skos:exactMatch HGNC_symbol:CKB Unspecified CKB +OMIM:123280 skos:exactMatch HGNC:1991 Unspecified CKB +OMIM:123280 skos:exactMatch UMLS:C1332763 Unspecified CKB +OMIM:147200 skos:exactMatch HGNC_symbol:IGKC Unspecified IGKC +OMIM:147200 skos:exactMatch HGNC:5716 Unspecified IGKC +OMIM:147200 skos:exactMatch UMLS:C1416163 Unspecified IGKC +OMIM:233600 skos:exactMatch UMLS:C1856263 Unspecified immunodeficiency 59 and hypoglycemia +OMIM:162830 skos:exactMatch UMLS:C0543669 Unspecified neutrophilia, hereditary +OMIM:123270 skos:exactMatch UMLS:C3887923 Unspecified creatine kinase, brain type, ectopic expression of +OMIM:174810 skos:exactMatch UMLS:C0432292 Unspecified familial expansile osteolysis +OMIM:206000 skos:exactMatch UMLS:C1859787 Unspecified anemia, sideroblastic, pyridoxine-responsive, autosomal recessive +OMIM:186950 skos:exactMatch UMLS:C1861277 Unspecified t-cell subgroups, non-hla-linked +OMIM:221800 skos:exactMatch UMLS:C0432288 Unspecified dermochondrocorneal dystrophy +OMIM:147350 skos:exactMatch UMLS:C1840224 Unspecified incisors, rotation of upper central +OMIM:184300 skos:exactMatch UMLS:C1384641 Unspecified spondylosis, cervical +OMIM:186960 skos:exactMatch UMLS:C1420650 Unspecified TCL1A +OMIM:186960 skos:exactMatch HGNC_symbol:TCL1A Unspecified TCL1A +OMIM:186960 skos:exactMatch HGNC:11648 Unspecified TCL1A +OMIM:147360 skos:exactMatch UMLS:C1416524 Unspecified IVL +OMIM:147360 skos:exactMatch HGNC_symbol:IVL Unspecified IVL +OMIM:147360 skos:exactMatch HGNC:6187 Unspecified IVL +OMIM:221820 skos:exactMatch UMLS:C3711381 Unspecified leukoencephalopathy, hereditary diffuse, with spheroids 1 +OMIM:186930 skos:exactMatch UMLS:C1421008 Unspecified TRBC1 +OMIM:186930 skos:exactMatch HGNC_symbol:TRBC1 Unspecified TRBC1 +OMIM:186930 skos:exactMatch HGNC:12156 Unspecified TRBC1 +OMIM:233805 skos:exactMatch UMLS:C2931279 Unspecified growth factors, combined defect of +OMIM:147370 skos:exactMatch UMLS:C1849157 Unspecified IGF1R +OMIM:147370 skos:exactMatch UMLS:C1334088 Unspecified IGF1R +OMIM:147370 skos:exactMatch HGNC:5465 Unspecified IGF1R +OMIM:147370 skos:exactMatch HGNC_symbol:IGF1R Unspecified IGF1R +OMIM:208850 skos:exactMatch UMLS:C0796045 Unspecified ataxia-deafness-retardation syndrome +OMIM:233800 skos:exactMatch UMLS:C1856244 Unspecified grouped pigmentation of the retina +OMIM:111380 skos:exactMatch UMLS:C1862209 Unspecified blood group--ok +OMIM:186940 skos:exactMatch HGNC_symbol:CD4 Unspecified CD4 +OMIM:186940 skos:exactMatch HGNC:1678 Unspecified CD4 +OMIM:186940 skos:exactMatch UMLS:C1332714 Unspecified CD4 +OMIM:221810 skos:exactMatch UMLS:C1857301 Unspecified dermatoosteolysis, kirghizian iia +OMIM:111360 skos:exactMatch UMLS:C1862210 Unspecified blood group--newfoundland +OMIM:147380 skos:exactMatch UMLS:C1334130 Unspecified INHA +OMIM:147380 skos:exactMatch HGNC:6065 Unspecified INHA +OMIM:147380 skos:exactMatch HGNC_symbol:INHA Unspecified INHA +OMIM:206200 skos:exactMatch UMLS:C0085576 Unspecified iron-refractory iron deficiency anemia +OMIM:186947 skos:exactMatch HGNC:3719 Unspecified FKBP3 +OMIM:186947 skos:exactMatch UMLS:C1414625 Unspecified FKBP3 +OMIM:186947 skos:exactMatch HGNC_symbol:FKBP3 Unspecified FKBP3 +OMIM:186946 skos:exactMatch HGNC:3718 Unspecified FKBP2 +OMIM:186946 skos:exactMatch UMLS:C1414624 Unspecified FKBP2 +OMIM:186946 skos:exactMatch HGNC_symbol:FKBP2 Unspecified FKBP2 +OMIM:186945 skos:exactMatch HGNC:3711 Unspecified FKBP1A +OMIM:186945 skos:exactMatch UMLS:C1414618 Unspecified FKBP1A +OMIM:186945 skos:exactMatch HGNC_symbol:FKBP1A Unspecified FKBP1A +OMIM:159350 skos:exactMatch UMLS:C0162804 Unspecified MCC +OMIM:159350 skos:exactMatch HGNC_symbol:MCC Unspecified MCC +OMIM:159350 skos:exactMatch HGNC:6935 Unspecified MCC +OMIM:147390 skos:exactMatch UMLS:C1334132 Unspecified INHBB +OMIM:147390 skos:exactMatch HGNC:6067 Unspecified INHBB +OMIM:147390 skos:exactMatch HGNC_symbol:INHBB Unspecified INHBB +OMIM:186990 skos:exactMatch UMLS:C1367475 Unspecified CD2 +OMIM:186990 skos:exactMatch HGNC_symbol:CD2 Unspecified CD2 +OMIM:186990 skos:exactMatch HGNC:1639 Unspecified CD2 +OMIM:123320 skos:exactMatch UMLS:C0241005 Unspecified creatine phosphokinase, elevated serum +OMIM:113995 skos:exactMatch HGNC_symbol:C5AR1 Unspecified C5AR1 +OMIM:113995 skos:exactMatch UMLS:C1824180 Unspecified C5AR1 +OMIM:113995 skos:exactMatch HGNC:1338 Unspecified C5AR1 +OMIM:186973 skos:exactMatch HGNC_symbol:ITK Unspecified ITK +OMIM:186973 skos:exactMatch HGNC:6171 Unspecified ITK +OMIM:186973 skos:exactMatch UMLS:C1367389 Unspecified ITK +OMIM:186970 skos:exactMatch HGNC:12275 Unspecified TRGC1 +OMIM:186970 skos:exactMatch UMLS:C1421120 Unspecified TRGC1 +OMIM:186970 skos:exactMatch HGNC_symbol:TRGC1 Unspecified TRGC1 +OMIM:186977 skos:exactMatch UMLS:C1420663 Unspecified TCTE3 +OMIM:186977 skos:exactMatch HGNC_symbol:DYNLT2 Unspecified TCTE3 +OMIM:186977 skos:exactMatch HGNC:11695 Unspecified TCTE3 +OMIM:186975 skos:exactMatch UMLS:C1420661 Unspecified TCTE1 +OMIM:186975 skos:exactMatch HGNC_symbol:TCTE1 Unspecified TCTE1 +OMIM:186975 skos:exactMatch HGNC:11693 Unspecified TCTE1 +OMIM:123310 skos:exactMatch HGNC_symbol:CKM Unspecified CKM +OMIM:123310 skos:exactMatch HGNC:1994 Unspecified CKM +OMIM:123310 skos:exactMatch UMLS:C1413435 Unspecified CKM +OMIM:186982 skos:exactMatch HGNC:11658 Unspecified TCP11 +OMIM:186982 skos:exactMatch HGNC_symbol:TCP11 Unspecified TCP11 +OMIM:186982 skos:exactMatch UMLS:C1420658 Unspecified TCP11 +OMIM:186980 skos:exactMatch HGNC:11655 Unspecified TCP1 +OMIM:186980 skos:exactMatch UMLS:C1420655 Unspecified TCP1 +OMIM:186980 skos:exactMatch HGNC_symbol:TCP1 Unspecified TCP1 +OMIM:113970 skos:exactMatch UMLS:C0006413 Unspecified burkitt lymphoma +OMIM:113970 skos:exactMatch ORPHA:543 Unspecified burkitt lymphoma +OMIM:600609 skos:exactMatch HGNC:4071 Unspecified GABPA +OMIM:600609 skos:exactMatch HGNC_symbol:GABPA Unspecified GABPA +OMIM:600609 skos:exactMatch UMLS:C1414905 Unspecified GABPA +OMIM:600608 skos:exactMatch UMLS:C1418223 Unspecified P4HA2 +OMIM:600608 skos:exactMatch HGNC_symbol:P4HA2 Unspecified P4HA2 +OMIM:600608 skos:exactMatch HGNC:8547 Unspecified P4HA2 +OMIM:125950 skos:exactMatch HGNC_symbol:DBI Unspecified DBI +OMIM:125950 skos:exactMatch HGNC:2690 Unspecified DBI +OMIM:125950 skos:exactMatch UMLS:C1413917 Unspecified DBI +OMIM:600607 skos:exactMatch HGNC:11644 Unspecified VPS72 +OMIM:600607 skos:exactMatch HGNC_symbol:VPS72 Unspecified VPS72 +OMIM:600607 skos:exactMatch UMLS:C1823645 Unspecified VPS72 +OMIM:600605 skos:exactMatch UMLS:C1417487 Unspecified MTX1 +OMIM:600605 skos:exactMatch HGNC_symbol:MTX1 Unspecified MTX1 +OMIM:600605 skos:exactMatch HGNC:7504 Unspecified MTX1 +OMIM:600600 skos:exactMatch HGNC:3392 Unspecified EPHB1 +OMIM:600600 skos:exactMatch UMLS:C1366441 Unspecified EPHB1 +OMIM:600600 skos:exactMatch HGNC_symbol:EPHB1 Unspecified EPHB1 +OMIM:111300 skos:exactMatch UMLS:C0026327 Unspecified blood group, mn +OMIM:113960 skos:exactMatch UMLS:C1861981 Unspecified butyrylesterase 1 +OMIM:600618 skos:exactMatch UMLS:C4015537 Unspecified ETV6 +OMIM:600618 skos:exactMatch HGNC:3495 Unspecified ETV6 +OMIM:600618 skos:exactMatch UMLS:C4015936 Unspecified ETV6 +OMIM:600618 skos:exactMatch HGNC_symbol:ETV6 Unspecified ETV6 +OMIM:600618 skos:exactMatch UMLS:C0796520 Unspecified ETV6 +OMIM:600617 skos:exactMatch HGNC_symbol:STAR Unspecified STAR +OMIM:600617 skos:exactMatch HGNC:11359 Unspecified STAR +OMIM:600617 skos:exactMatch UMLS:C1420453 Unspecified STAR +OMIM:600616 skos:exactMatch UMLS:C1416936 Unspecified LUM +OMIM:600616 skos:exactMatch HGNC_symbol:LUM Unspecified LUM +OMIM:600616 skos:exactMatch HGNC:6724 Unspecified LUM +OMIM:600615 skos:exactMatch HGNC_symbol:LGALS7 Unspecified LGALS7 +OMIM:600615 skos:exactMatch UMLS:C1416835 Unspecified LGALS7 +OMIM:600615 skos:exactMatch HGNC:6568 Unspecified LGALS7 +OMIM:600614 skos:exactMatch HGNC_symbol:S100P Unspecified S100P +OMIM:600614 skos:exactMatch HGNC:10504 Unspecified S100P +OMIM:600614 skos:exactMatch UMLS:C1335799 Unspecified S100P +OMIM:600613 skos:exactMatch HGNC_symbol:NBL1 Unspecified NBL1 +OMIM:600613 skos:exactMatch HGNC:7650 Unspecified NBL1 +OMIM:600613 skos:exactMatch UMLS:C0919442 Unspecified NBL1 +OMIM:600611 skos:exactMatch HGNC:3720 Unspecified FKBP4 +OMIM:600611 skos:exactMatch UMLS:C1414626 Unspecified FKBP4 +OMIM:600611 skos:exactMatch HGNC_symbol:FKBP4 Unspecified FKBP4 +OMIM:600610 skos:exactMatch HGNC_symbol:GABPB1 Unspecified GABPB +OMIM:600610 skos:exactMatch UMLS:C1876159 Unspecified GABPB +OMIM:600610 skos:exactMatch UMLS:C1876155 Unspecified GABPB +OMIM:600610 skos:exactMatch UMLS:C1876156 Unspecified GABPB +OMIM:600610 skos:exactMatch UMLS:C1876157 Unspecified GABPB +OMIM:600610 skos:exactMatch UMLS:C1414907 Unspecified GABPB +OMIM:600610 skos:exactMatch HGNC:4074 Unspecified GABPB +OMIM:113950 skos:exactMatch UMLS:C0340504 Unspecified bundle branch block, familial isolated complete right +OMIM:113955 skos:exactMatch UMLS:C3888101 Unspecified bungarotoxin, alpha, receptor for +OMIM:612639 skos:exactMatch UMLS:C2675249 Unspecified inflammatory bowel disease 26 +OMIM:612637 skos:exactMatch UMLS:C2675251 Unspecified febrile seizures, familial, 10 +OMIM:612638 skos:exactMatch HGNC:20371 Unspecified NDUFA11 +OMIM:612638 skos:exactMatch UMLS:C1426901 Unspecified NDUFA11 +OMIM:612638 skos:exactMatch HGNC_symbol:NDUFA11 Unspecified NDUFA11 +OMIM:612635 skos:exactMatch UMLS:C2673520 Unspecified microvascular complications of diabetes, susceptibility to, 7 +OMIM:612636 skos:exactMatch UMLS:C1428609 Unspecified UNC80 +OMIM:612636 skos:exactMatch HGNC:26582 Unspecified UNC80 +OMIM:612636 skos:exactMatch HGNC_symbol:UNC80 Unspecified UNC80 +OMIM:612633 skos:exactMatch UMLS:C2674665 Unspecified microvascular complications of diabetes, susceptibility to, 5 +OMIM:612634 skos:exactMatch UMLS:C2675128 Unspecified microvascular complications of diabetes, susceptibility to, 6 +OMIM:612631 skos:exactMatch UMLS:C2675459 Unspecified adenylate kinase deficiency, hemolytic anemia due to +OMIM:612632 skos:exactMatch UMLS:C2675458 Unspecified usher syndrome, iia 1h +OMIM:612630 skos:exactMatch UMLS:C2675460 Unspecified hair morphology 1 +OMIM:600649 skos:exactMatch UMLS:C1833511 Unspecified carnitine palmitoyltransferase 2 deficiency, infantile +OMIM:600647 skos:exactMatch UMLS:C1415623 Unspecified HMX2 +OMIM:600647 skos:exactMatch HGNC:5018 Unspecified HMX2 +OMIM:600647 skos:exactMatch HGNC_symbol:HMX2 Unspecified HMX2 +OMIM:600646 skos:exactMatch HGNC:9452 Unspecified PROCR +OMIM:600646 skos:exactMatch HGNC_symbol:PROCR Unspecified PROCR +OMIM:600646 skos:exactMatch UMLS:C1418944 Unspecified PROCR +OMIM:600644 skos:exactMatch HGNC_symbol:NECTIN1 Unspecified NECTIN1 +OMIM:600644 skos:exactMatch HGNC:9706 Unspecified NECTIN1 +OMIM:600644 skos:exactMatch UMLS:C1419142 Unspecified NECTIN1 +OMIM:600643 skos:exactMatch UMLS:C1833541 Unspecified caroli disease, isolated +OMIM:600642 skos:exactMatch HGNC:13880 Unspecified MYO1G +OMIM:600642 skos:exactMatch UMLS:C1422252 Unspecified MYO1G +OMIM:600642 skos:exactMatch HGNC_symbol:MYO1G Unspecified MYO1G +OMIM:600641 skos:exactMatch HGNC:11455 Unspecified SULT1A3 +OMIM:600641 skos:exactMatch HGNC_symbol:SULT1A3 Unspecified SULT1A3 +OMIM:600641 skos:exactMatch UMLS:C1420516 Unspecified SULT1A3 +OMIM:600660 skos:exactMatch HGNC:6993 Unspecified MEF2A +OMIM:600660 skos:exactMatch UMLS:C1417099 Unspecified MEF2A +OMIM:600660 skos:exactMatch HGNC_symbol:MEF2A Unspecified MEF2A +OMIM:612628 skos:exactMatch UMLS:C2675112 Unspecified microvascular complications of diabetes, susceptibility to, 4 +OMIM:612629 skos:exactMatch UMLS:C2675461 Unspecified adiponectin, serum level of, quantitative trait locus 4 +OMIM:612626 skos:exactMatch UMLS:C2675463 Unspecified chromosome 15q26-qter deletion syndrome +OMIM:612627 skos:exactMatch UMLS:C2675462 Unspecified seizures, benign familial infantile, 4 +OMIM:612624 skos:exactMatch UMLS:C2675470 Unspecified microvascular complications of diabetes, susceptibility to, 3 +OMIM:612625 skos:exactMatch UMLS:C1825864 Unspecified None +OMIM:612625 skos:exactMatch HGNC_symbol:LMBRD1 Unspecified None +OMIM:612625 skos:exactMatch HGNC:23038 Unspecified None +OMIM:612622 skos:exactMatch UMLS:C2675472 Unspecified iia 1 diabetes mellitus 23 +OMIM:612623 skos:exactMatch UMLS:C2675471 Unspecified microvascular complications of diabetes, susceptibility to, 2 +OMIM:612620 skos:exactMatch HGNC_symbol:RASSF6 Unspecified RASSF6 +OMIM:612620 skos:exactMatch HGNC:20796 Unspecified RASSF6 +OMIM:612620 skos:exactMatch UMLS:C1427129 Unspecified RASSF6 +OMIM:612621 skos:exactMatch UMLS:C2675473 Unspecified intellectual developmental disorder, autosomal dominant 5 +OMIM:600659 skos:exactMatch UMLS:C1414227 Unspecified E2F4 +OMIM:600659 skos:exactMatch HGNC_symbol:E2F4 Unspecified E2F4 +OMIM:600659 skos:exactMatch HGNC:3118 Unspecified E2F4 +OMIM:600658 skos:exactMatch HGNC_symbol:PPP5C Unspecified PPP5C +OMIM:600658 skos:exactMatch HGNC:9322 Unspecified PPP5C +OMIM:600658 skos:exactMatch UMLS:C1418852 Unspecified PPP5C +OMIM:600655 skos:exactMatch HGNC:3208 Unspecified EEF1B2 +OMIM:600655 skos:exactMatch HGNC_symbol:EEF1B2 Unspecified EEF1B2 +OMIM:600655 skos:exactMatch UMLS:C1414289 Unspecified EEF1B2 +OMIM:600654 skos:exactMatch HGNC:9568 Unspecified PSME1 +OMIM:600654 skos:exactMatch UMLS:C1419041 Unspecified PSME1 +OMIM:600654 skos:exactMatch HGNC_symbol:PSME1 Unspecified PSME1 +OMIM:125900 skos:exactMatch UMLS:C1852086 Unspecified diastema, dental medial +OMIM:600652 skos:exactMatch UMLS:C1833503 Unspecified deafness, autosomal dominant 4a +OMIM:600651 skos:exactMatch UMLS:C1414701 Unspecified fragile site 11b +OMIM:600650 skos:exactMatch UMLS:C1413690 Unspecified CPT2 +OMIM:600650 skos:exactMatch HGNC_symbol:CPT2 Unspecified CPT2 +OMIM:600650 skos:exactMatch HGNC:2330 Unspecified CPT2 +OMIM:612619 skos:exactMatch UMLS:C1537546 Unspecified LCE5A +OMIM:612619 skos:exactMatch HGNC_symbol:LCE5A Unspecified LCE5A +OMIM:612619 skos:exactMatch HGNC:16614 Unspecified LCE5A +OMIM:612617 skos:exactMatch UMLS:C1537544 Unspecified LCE3E +OMIM:612617 skos:exactMatch HGNC:29463 Unspecified LCE3E +OMIM:612617 skos:exactMatch HGNC_symbol:LCE3E Unspecified LCE3E +OMIM:612618 skos:exactMatch UMLS:C1537545 Unspecified LCE4A +OMIM:612618 skos:exactMatch HGNC_symbol:LCE4A Unspecified LCE4A +OMIM:612618 skos:exactMatch HGNC:16613 Unspecified LCE4A +OMIM:612615 skos:exactMatch UMLS:C1537542 Unspecified LCE3C +OMIM:612615 skos:exactMatch HGNC_symbol:LCE3C Unspecified LCE3C +OMIM:612615 skos:exactMatch HGNC:16612 Unspecified LCE3C +OMIM:612616 skos:exactMatch UMLS:C1537543 Unspecified LCE3D +OMIM:612616 skos:exactMatch HGNC_symbol:LCE3D Unspecified LCE3D +OMIM:612616 skos:exactMatch HGNC:16615 Unspecified LCE3D +OMIM:612613 skos:exactMatch HGNC:29461 Unspecified LCE3A +OMIM:612613 skos:exactMatch HGNC_symbol:LCE3A Unspecified LCE3A +OMIM:612613 skos:exactMatch UMLS:C1537540 Unspecified LCE3A +OMIM:612614 skos:exactMatch HGNC:29462 Unspecified LCE3B +OMIM:612614 skos:exactMatch HGNC_symbol:LCE3B Unspecified LCE3B +OMIM:612614 skos:exactMatch UMLS:C1537541 Unspecified LCE3B +OMIM:612611 skos:exactMatch HGNC:29460 Unspecified LCE2C +OMIM:612611 skos:exactMatch HGNC_symbol:LCE2C Unspecified LCE2C +OMIM:612611 skos:exactMatch UMLS:C1537538 Unspecified LCE2C +OMIM:255160 skos:exactMatch ORPHA:53698 Unspecified myopathy, myosin storage, autosomal recessive +OMIM:255160 skos:exactMatch UMLS:C1850709 Unspecified myopathy, myosin storage, autosomal recessive +OMIM:612612 skos:exactMatch HGNC_symbol:LCE2D Unspecified LCE2D +OMIM:612612 skos:exactMatch HGNC:16518 Unspecified LCE2D +OMIM:612612 skos:exactMatch UMLS:C1537539 Unspecified LCE2D +OMIM:612610 skos:exactMatch HGNC_symbol:LCE2B Unspecified LCE2B +OMIM:612610 skos:exactMatch HGNC:16610 Unspecified LCE2B +OMIM:612610 skos:exactMatch UMLS:C1537537 Unspecified LCE2B +OMIM:600629 skos:exactMatch HGNC:4937 Unspecified HLA-DOB +OMIM:600629 skos:exactMatch UMLS:C1415566 Unspecified HLA-DOB +OMIM:600629 skos:exactMatch HGNC_symbol:HLA-DOB Unspecified HLA-DOB +OMIM:600628 skos:exactMatch UMLS:C0406468 Unspecified loose anagen hair syndrome +OMIM:600627 skos:exactMatch UMLS:C2931837 Unspecified hypertryptophanemia +OMIM:600626 skos:exactMatch HGNC_symbol:LGALS3BP Unspecified LGALS3BP +OMIM:600626 skos:exactMatch UMLS:C1334335 Unspecified LGALS3BP +OMIM:600626 skos:exactMatch HGNC:6564 Unspecified LGALS3BP +OMIM:600625 skos:exactMatch ORPHA:199306 Unspecified orofacial cleft 11 +OMIM:600625 skos:exactMatch UMLS:C1833563 Unspecified orofacial cleft 11 +OMIM:600625 skos:exactMatch UMLS:C2677434 Unspecified orofacial cleft 11 +OMIM:600624 skos:exactMatch UMLS:C1833564 Unspecified cone-rod dystrophy 1 +OMIM:600623 skos:exactMatch UMLS:C0812444 Unspecified CD82 +OMIM:600623 skos:exactMatch HGNC_symbol:CD82 Unspecified CD82 +OMIM:600623 skos:exactMatch HGNC:6210 Unspecified CD82 +OMIM:243180 skos:exactMatch UMLS:C1855733 Unspecified visceral neuropathy, familial, 1, autosomal recessive +OMIM:600621 skos:exactMatch HGNC_symbol:STMN2 Unspecified STMN2 +OMIM:600621 skos:exactMatch UMLS:C1419850 Unspecified STMN2 +OMIM:600621 skos:exactMatch HGNC:10577 Unspecified STMN2 +OMIM:600620 skos:exactMatch HGNC:3712 Unspecified FKBP1B +OMIM:600620 skos:exactMatch UMLS:C1414619 Unspecified FKBP1B +OMIM:600620 skos:exactMatch HGNC_symbol:FKBP1B Unspecified FKBP1B +OMIM:612608 skos:exactMatch UMLS:C1537535 Unspecified LCE1F +OMIM:612608 skos:exactMatch HGNC:29467 Unspecified LCE1F +OMIM:612608 skos:exactMatch HGNC_symbol:LCE1F Unspecified LCE1F +OMIM:612609 skos:exactMatch UMLS:C1537536 Unspecified LCE2A +OMIM:612609 skos:exactMatch HGNC:29469 Unspecified LCE2A +OMIM:612609 skos:exactMatch HGNC_symbol:LCE2A Unspecified LCE2A +OMIM:243185 skos:exactMatch UMLS:C1855732 Unspecified intestinal pseudoobstruction with patent ductus arteriosus and natal teeth +OMIM:612606 skos:exactMatch UMLS:C1537533 Unspecified LCE1D +OMIM:612606 skos:exactMatch HGNC:29465 Unspecified LCE1D +OMIM:612606 skos:exactMatch HGNC_symbol:LCE1D Unspecified LCE1D +OMIM:612607 skos:exactMatch UMLS:C1537534 Unspecified LCE1E +OMIM:612607 skos:exactMatch HGNC:29466 Unspecified LCE1E +OMIM:612607 skos:exactMatch HGNC_symbol:LCE1E Unspecified LCE1E +OMIM:612604 skos:exactMatch UMLS:C1537531 Unspecified LCE1B +OMIM:612604 skos:exactMatch HGNC_symbol:LCE1B Unspecified LCE1B +OMIM:612604 skos:exactMatch HGNC:16611 Unspecified LCE1B +OMIM:612605 skos:exactMatch UMLS:C1537532 Unspecified LCE1C +OMIM:612605 skos:exactMatch HGNC:29464 Unspecified LCE1C +OMIM:612605 skos:exactMatch HGNC_symbol:LCE1C Unspecified LCE1C +OMIM:612602 skos:exactMatch HGNC_symbol:RBM15B Unspecified RBM15B +OMIM:612602 skos:exactMatch HGNC:24303 Unspecified RBM15B +OMIM:612602 skos:exactMatch UMLS:C1538786 Unspecified RBM15B +OMIM:612603 skos:exactMatch UMLS:C1537530 Unspecified LCE1A +OMIM:612603 skos:exactMatch HGNC:29459 Unspecified LCE1A +OMIM:612603 skos:exactMatch HGNC_symbol:LCE1A Unspecified LCE1A +OMIM:612600 skos:exactMatch HGNC:18485 Unspecified RNMTL1 +OMIM:612600 skos:exactMatch HGNC_symbol:MRM3 Unspecified RNMTL1 +OMIM:612600 skos:exactMatch UMLS:C1425547 Unspecified RNMTL1 +OMIM:612601 skos:exactMatch HGNC_symbol:RFPL4A Unspecified RFPL4A +OMIM:612601 skos:exactMatch HGNC:16449 Unspecified RFPL4A +OMIM:612601 skos:exactMatch UMLS:C2239881 Unspecified RFPL4A +OMIM:113900 skos:exactMatch UMLS:C1861983 Unspecified progressive familial heart block, iia 1a +OMIM:113900 skos:exactMatch UMLS:C1861984 Unspecified progressive familial heart block, iia 1a +OMIM:113900 skos:exactMatch UMLS:C1879286 Unspecified progressive familial heart block, iia 1a +OMIM:600639 skos:exactMatch HGNC_symbol:CASP2 Unspecified CASP2 +OMIM:600639 skos:exactMatch HGNC:1503 Unspecified CASP2 +OMIM:600639 skos:exactMatch UMLS:C1332662 Unspecified CASP2 +OMIM:600638 skos:exactMatch UMLS:C2748801 Unspecified fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement +OMIM:600637 skos:exactMatch HGNC_symbol:SLC1A6 Unspecified SLC1A6 +OMIM:600637 skos:exactMatch UMLS:C1420124 Unspecified SLC1A6 +OMIM:600637 skos:exactMatch HGNC:10944 Unspecified SLC1A6 +OMIM:600636 skos:exactMatch HGNC_symbol:CASP3 Unspecified CASP3 +OMIM:600636 skos:exactMatch HGNC:1504 Unspecified CASP3 +OMIM:600636 skos:exactMatch UMLS:C1413132 Unspecified CASP3 +OMIM:600635 skos:exactMatch UMLS:C1384616 Unspecified NKX2-1 +OMIM:600635 skos:exactMatch HGNC_symbol:NKX2-1 Unspecified NKX2-1 +OMIM:600635 skos:exactMatch HGNC:11825 Unspecified NKX2-1 +OMIM:600634 skos:exactMatch UMLS:C0033375 Unspecified +OMIM:600633 skos:exactMatch UMLS:C1420702 Unspecified TFF3 +OMIM:600633 skos:exactMatch HGNC_symbol:TFF3 Unspecified TFF3 +OMIM:600633 skos:exactMatch HGNC:11757 Unspecified TFF3 +OMIM:600632 skos:exactMatch HGNC:8143 Unspecified OPCML +OMIM:600632 skos:exactMatch HGNC_symbol:OPCML Unspecified OPCML +OMIM:600632 skos:exactMatch UMLS:C1417956 Unspecified OPCML +OMIM:600631 skos:exactMatch UMLS:C0270327 Unspecified enuresis, nocturnal, 1 +OMIM:600630 skos:exactMatch UMLS:C3551173 Unspecified uv-sensitive syndrome 1 +OMIM:600572 skos:exactMatch HGNC_symbol:SRSF7 Unspecified SRSF7 +OMIM:600572 skos:exactMatch HGNC:10789 Unspecified SRSF7 +OMIM:600572 skos:exactMatch UMLS:C1419998 Unspecified SRSF7 +OMIM:600571 skos:exactMatch UMLS:C4225584 Unspecified REST +OMIM:600571 skos:exactMatch UMLS:C4539942 Unspecified REST +OMIM:600571 skos:exactMatch HGNC:9966 Unspecified REST +OMIM:600571 skos:exactMatch HGNC_symbol:REST Unspecified REST +OMIM:600571 skos:exactMatch UMLS:C1419346 Unspecified REST +OMIM:600571 skos:exactMatch UMLS:C3887929 Unspecified REST +OMIM:600570 skos:exactMatch HGNC:2020 Unspecified CLCN2 +OMIM:600570 skos:exactMatch HGNC_symbol:CLCN2 Unspecified CLCN2 +OMIM:600570 skos:exactMatch UMLS:C1413451 Unspecified CLCN2 +OMIM:243150 skos:exactMatch UMLS:C0220744 Unspecified gastrointestinal defects and immunodeficiency syndrome 1 +OMIM:612558 skos:exactMatch UMLS:C2675515 Unspecified leukemia, chronic lymphocytic, susceptibility to, 4 +OMIM:612559 skos:exactMatch UMLS:C2675514 Unspecified leukemia, chronic lymphocytic, susceptibility to, 5 +OMIM:612556 skos:exactMatch UMLS:C2675519 Unspecified adiponectin, serum level of, quantitative trait locus 1 +OMIM:612556 skos:exactMatch UMLS:C2675517 Unspecified adiponectin, serum level of, quantitative trait locus 1 +OMIM:612556 skos:exactMatch UMLS:C2675518 Unspecified adiponectin, serum level of, quantitative trait locus 1 +OMIM:612557 skos:exactMatch UMLS:C2675516 Unspecified leukemia, chronic lymphocytic, susceptibility to, 3 +OMIM:612554 skos:exactMatch UMLS:C2675523 Unspecified myopia 16, autosomal dominant +OMIM:612555 skos:exactMatch UMLS:C2675522 Unspecified breast-ovarian cancer, familial, susceptibility to, 2 +OMIM:612555 skos:exactMatch UMLS:C2675520 Unspecified breast-ovarian cancer, familial, susceptibility to, 2 +OMIM:612555 skos:exactMatch UMLS:C2675521 Unspecified breast-ovarian cancer, familial, susceptibility to, 2 +OMIM:612552 skos:exactMatch UMLS:C1427093 Unspecified ZBED4 +OMIM:612552 skos:exactMatch HGNC:20721 Unspecified ZBED4 +OMIM:612552 skos:exactMatch HGNC_symbol:ZBED4 Unspecified ZBED4 +OMIM:612553 skos:exactMatch UMLS:C1537891 Unspecified MIR370 +OMIM:612553 skos:exactMatch HGNC_symbol:MIR370 Unspecified MIR370 +OMIM:612553 skos:exactMatch HGNC:31784 Unspecified MIR370 +OMIM:612561 skos:exactMatch UMLS:C2931850 Unspecified diamond-blackfan anemia 6 +OMIM:612562 skos:exactMatch UMLS:C2675512 Unspecified diamond-blackfan anemia 7 +OMIM:612560 skos:exactMatch UMLS:C2675513 Unspecified bone mineral density quantitative trait locus 12 +OMIM:600568 skos:exactMatch UMLS:C1422548 Unspecified NLGN1 +OMIM:600568 skos:exactMatch HGNC_symbol:NLGN1 Unspecified NLGN1 +OMIM:600568 skos:exactMatch UMLS:C2986382 Unspecified NLGN1 +OMIM:600568 skos:exactMatch HGNC:14291 Unspecified NLGN1 +OMIM:600568 skos:exactMatch UMLS:C5394226 Unspecified NLGN1 +OMIM:600567 skos:exactMatch UMLS:C1417853 Unspecified NRXN3 +OMIM:600567 skos:exactMatch HGNC:8010 Unspecified NRXN3 +OMIM:600567 skos:exactMatch HGNC_symbol:NRXN3 Unspecified NRXN3 +OMIM:600566 skos:exactMatch UMLS:C1417852 Unspecified NRXN2 +OMIM:600566 skos:exactMatch HGNC:8009 Unspecified NRXN2 +OMIM:600566 skos:exactMatch HGNC_symbol:NRXN2 Unspecified NRXN2 +OMIM:600565 skos:exactMatch UMLS:C1417851 Unspecified NRXN1 +OMIM:600565 skos:exactMatch HGNC:8008 Unspecified NRXN1 +OMIM:600565 skos:exactMatch HGNC_symbol:NRXN1 Unspecified NRXN1 +OMIM:600564 skos:exactMatch UMLS:C1416509 Unspecified ITIH4 +OMIM:600564 skos:exactMatch HGNC_symbol:ITIH4 Unspecified ITIH4 +OMIM:600564 skos:exactMatch HGNC:6169 Unspecified ITIH4 +OMIM:600563 skos:exactMatch HGNC:9600 Unspecified PTGFR +OMIM:600563 skos:exactMatch HGNC_symbol:PTGFR Unspecified PTGFR +OMIM:600563 skos:exactMatch UMLS:C1419068 Unspecified PTGFR +OMIM:600562 skos:exactMatch HGNC:1751 Unspecified CDH12 +OMIM:600562 skos:exactMatch UMLS:C1413270 Unspecified CDH12 +OMIM:600562 skos:exactMatch HGNC_symbol:CDH12 Unspecified CDH12 +OMIM:600583 skos:exactMatch UMLS:C1336601 Unspecified TEC +OMIM:600583 skos:exactMatch HGNC_symbol:TEC Unspecified TEC +OMIM:600583 skos:exactMatch HGNC:11719 Unspecified TEC +OMIM:600582 skos:exactMatch HGNC:757 Unspecified ASPH +OMIM:600582 skos:exactMatch UMLS:C1412592 Unspecified ASPH +OMIM:600582 skos:exactMatch HGNC_symbol:ASPH Unspecified ASPH +OMIM:600581 skos:exactMatch UMLS:C1415857 Unspecified ID4 +OMIM:600581 skos:exactMatch HGNC_symbol:ID4 Unspecified ID4 +OMIM:600581 skos:exactMatch HGNC:5363 Unspecified ID4 +OMIM:600580 skos:exactMatch HGNC_symbol:CLCN3 Unspecified CLCN3 +OMIM:600580 skos:exactMatch UMLS:C1413452 Unspecified CLCN3 +OMIM:600580 skos:exactMatch HGNC:2021 Unspecified CLCN3 +OMIM:612549 skos:exactMatch HGNC:18162 Unspecified TRIM73 +OMIM:612549 skos:exactMatch HGNC_symbol:TRIM73 Unspecified TRIM73 +OMIM:612549 skos:exactMatch UMLS:C1823494 Unspecified TRIM73 +OMIM:612547 skos:exactMatch HGNC_symbol:TMEM270 Unspecified TMEM270 +OMIM:612547 skos:exactMatch HGNC:23018 Unspecified TMEM270 +OMIM:612547 skos:exactMatch UMLS:C1823658 Unspecified TMEM270 +OMIM:612548 skos:exactMatch HGNC:19017 Unspecified TRIM50 +OMIM:612548 skos:exactMatch UMLS:C1823490 Unspecified TRIM50 +OMIM:612548 skos:exactMatch HGNC_symbol:TRIM50 Unspecified TRIM50 +OMIM:612545 skos:exactMatch HGNC_symbol:ABHD11-AS1 Unspecified WBSCR26 +OMIM:612545 skos:exactMatch HGNC:18289 Unspecified WBSCR26 +OMIM:612545 skos:exactMatch UMLS:C1425424 Unspecified WBSCR26 +OMIM:612546 skos:exactMatch UMLS:C1538074 Unspecified METTL27 +OMIM:612546 skos:exactMatch HGNC:19068 Unspecified METTL27 +OMIM:612546 skos:exactMatch HGNC_symbol:METTL27 Unspecified METTL27 +OMIM:612543 skos:exactMatch HGNC:20062 Unspecified USP36 +OMIM:612543 skos:exactMatch HGNC_symbol:USP36 Unspecified USP36 +OMIM:612543 skos:exactMatch UMLS:C1426650 Unspecified USP36 +OMIM:612544 skos:exactMatch HGNC:19195 Unspecified ABLIM2 +OMIM:612544 skos:exactMatch UMLS:C1426081 Unspecified ABLIM2 +OMIM:612544 skos:exactMatch HGNC_symbol:ABLIM2 Unspecified ABLIM2 +OMIM:612541 skos:exactMatch UMLS:C2675526 Unspecified neutropenia, severe congenital, 4, autosomal recessive +OMIM:612541 skos:exactMatch ORPHA:331176 Unspecified neutropenia, severe congenital, 4, autosomal recessive +OMIM:612541 skos:exactMatch ORPHA:178503 Unspecified neutropenia, severe congenital, 4, autosomal recessive +OMIM:612542 skos:exactMatch UMLS:C2674252 Unspecified vitamin b12 plasma level quantitative trait locus 1 +OMIM:612550 skos:exactMatch HGNC:17453 Unspecified TRIM74 +OMIM:612550 skos:exactMatch HGNC_symbol:TRIM74 Unspecified TRIM74 +OMIM:612550 skos:exactMatch UMLS:C1823495 Unspecified TRIM74 +OMIM:612551 skos:exactMatch UMLS:C2675525 Unspecified focal segmental glomerulosclerosis 4, susceptibility to +OMIM:255140 skos:exactMatch UMLS:C1850717 Unspecified myopathy with giant abnormal mitochondria +OMIM:600579 skos:exactMatch HGNC_symbol:PTPRO Unspecified PTPRO +OMIM:600579 skos:exactMatch HGNC:9678 Unspecified PTPRO +OMIM:600579 skos:exactMatch UMLS:C1419121 Unspecified PTPRO +OMIM:600578 skos:exactMatch HGNC_symbol:OR2H2 Unspecified OR2H3 +OMIM:600578 skos:exactMatch HGNC:8253 Unspecified OR2H3 +OMIM:600578 skos:exactMatch UMLS:C1418029 Unspecified OR2H3 +OMIM:600577 skos:exactMatch UMLS:C1416850 Unspecified LHX3 +OMIM:600577 skos:exactMatch HGNC_symbol:LHX3 Unspecified LHX3 +OMIM:600577 skos:exactMatch HGNC:6595 Unspecified LHX3 +OMIM:600576 skos:exactMatch HGNC:4173 Unspecified GATA4 +OMIM:600576 skos:exactMatch HGNC_symbol:GATA4 Unspecified GATA4 +OMIM:600576 skos:exactMatch UMLS:C1414995 Unspecified GATA4 +OMIM:600575 skos:exactMatch UMLS:C1421205 Unspecified TSN +OMIM:600575 skos:exactMatch HGNC_symbol:TSN Unspecified TSN +OMIM:600575 skos:exactMatch HGNC:12379 Unspecified TSN +OMIM:600574 skos:exactMatch UMLS:C4225280 Unspecified LZTR1 +OMIM:600574 skos:exactMatch HGNC_symbol:LZTR1 Unspecified LZTR1 +OMIM:600574 skos:exactMatch UMLS:C1854469 Unspecified LZTR1 +OMIM:600574 skos:exactMatch UMLS:C1416947 Unspecified LZTR1 +OMIM:600574 skos:exactMatch UMLS:C3810283 Unspecified LZTR1 +OMIM:600574 skos:exactMatch HGNC:6742 Unspecified LZTR1 +OMIM:600573 skos:exactMatch HGNC_symbol:TAF7 Unspecified TAF7 +OMIM:600573 skos:exactMatch UMLS:C1336571 Unspecified TAF7 +OMIM:600573 skos:exactMatch HGNC:11541 Unspecified TAF7 +OMIM:600550 skos:exactMatch HGNC:2542 Unspecified CTSO +OMIM:600550 skos:exactMatch UMLS:C1413820 Unspecified CTSO +OMIM:600550 skos:exactMatch HGNC_symbol:CTSO Unspecified CTSO +OMIM:270750 skos:exactMatch UMLS:C0796019 Unspecified spastic paraplegia 23, autosomal recessive +OMIM:612538 skos:exactMatch HGNC:23193 Unspecified THAP10 +OMIM:612538 skos:exactMatch HGNC_symbol:THAP10 Unspecified THAP10 +OMIM:612538 skos:exactMatch UMLS:C1427979 Unspecified THAP10 +OMIM:612539 skos:exactMatch UMLS:C2675528 Unspecified spastic paraplegia 42, autosomal dominant +OMIM:612536 skos:exactMatch HGNC:23191 Unspecified THAP8 +OMIM:612536 skos:exactMatch HGNC_symbol:THAP8 Unspecified THAP8 +OMIM:612536 skos:exactMatch UMLS:C1427977 Unspecified THAP8 +OMIM:612537 skos:exactMatch HGNC:23192 Unspecified THAP9 +OMIM:612537 skos:exactMatch HGNC_symbol:THAP9 Unspecified THAP9 +OMIM:612537 skos:exactMatch UMLS:C1427978 Unspecified THAP9 +OMIM:612534 skos:exactMatch HGNC:23188 Unspecified THAP5 +OMIM:612534 skos:exactMatch HGNC_symbol:THAP5 Unspecified THAP5 +OMIM:612534 skos:exactMatch UMLS:C1427974 Unspecified THAP5 +OMIM:612535 skos:exactMatch HGNC:23189 Unspecified THAP6 +OMIM:612535 skos:exactMatch HGNC_symbol:THAP6 Unspecified THAP6 +OMIM:612535 skos:exactMatch UMLS:C1427975 Unspecified THAP6 +OMIM:612532 skos:exactMatch HGNC_symbol:THAP3 Unspecified THAP3 +OMIM:612532 skos:exactMatch UMLS:C1427162 Unspecified THAP3 +OMIM:612532 skos:exactMatch HGNC:20855 Unspecified THAP3 +OMIM:612533 skos:exactMatch HGNC:23187 Unspecified THAP4 +OMIM:612533 skos:exactMatch HGNC_symbol:THAP4 Unspecified THAP4 +OMIM:612533 skos:exactMatch UMLS:C1427973 Unspecified THAP4 +OMIM:612530 skos:exactMatch UMLS:C2675857 Unspecified chromosome 1q41-q42 deletion syndrome +OMIM:612531 skos:exactMatch HGNC_symbol:THAP2 Unspecified THAP2 +OMIM:612531 skos:exactMatch UMLS:C1427161 Unspecified THAP2 +OMIM:612531 skos:exactMatch HGNC:20854 Unspecified THAP2 +OMIM:612540 skos:exactMatch UMLS:C2675527 Unspecified myopathy, congenital, compton-north +OMIM:255110 skos:exactMatch UMLS:C1833508 Unspecified carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced +OMIM:600549 skos:exactMatch HGNC:5958 Unspecified IK +OMIM:600549 skos:exactMatch UMLS:C1416378 Unspecified IK +OMIM:600549 skos:exactMatch HGNC_symbol:IK Unspecified IK +OMIM:600548 skos:exactMatch HGNC_symbol:HSPA9 Unspecified HSPA9 +OMIM:600548 skos:exactMatch HGNC:5244 Unspecified HSPA9 +OMIM:600548 skos:exactMatch UMLS:C1825549 Unspecified HSPA9 +OMIM:600547 skos:exactMatch HGNC:1564 Unspecified CCBL1 +OMIM:600547 skos:exactMatch HGNC_symbol:KYAT1 Unspecified CCBL1 +OMIM:600547 skos:exactMatch UMLS:C1413165 Unspecified CCBL1 +OMIM:600546 skos:exactMatch UMLS:C2931307 Unspecified intrauterine growth retardation with increased mitomycin c sensitivity +OMIM:600544 skos:exactMatch UMLS:C1420100 Unspecified SLC15A1 +OMIM:600544 skos:exactMatch HGNC_symbol:SLC15A1 Unspecified SLC15A1 +OMIM:600544 skos:exactMatch HGNC:10920 Unspecified SLC15A1 +OMIM:600543 skos:exactMatch HGNC:3432 Unspecified ERBB4 +OMIM:600543 skos:exactMatch UMLS:C0812267 Unspecified ERBB4 +OMIM:600543 skos:exactMatch HGNC_symbol:ERBB4 Unspecified ERBB4 +OMIM:600542 skos:exactMatch UMLS:C2677451 Unspecified NR4A3 +OMIM:600542 skos:exactMatch HGNC_symbol:NR4A3 Unspecified NR4A3 +OMIM:600542 skos:exactMatch HGNC:7982 Unspecified NR4A3 +OMIM:600542 skos:exactMatch UMLS:C2675456 Unspecified NR4A3 +OMIM:600542 skos:exactMatch UMLS:C1838101 Unspecified NR4A3 +OMIM:600542 skos:exactMatch UMLS:C1417837 Unspecified NR4A3 +OMIM:600541 skos:exactMatch UMLS:C2677452 Unspecified ETV1 +OMIM:600541 skos:exactMatch UMLS:C1333361 Unspecified ETV1 +OMIM:600541 skos:exactMatch HGNC:3490 Unspecified ETV1 +OMIM:600541 skos:exactMatch HGNC_symbol:ETV1 Unspecified ETV1 +OMIM:600540 skos:exactMatch HGNC_symbol:SP4 Unspecified SP4 +OMIM:600540 skos:exactMatch HGNC:11209 Unspecified SP4 +OMIM:600540 skos:exactMatch UMLS:C1420334 Unspecified SP4 +OMIM:600561 skos:exactMatch UMLS:C1833603 Unspecified spondyloepiphyseal dysplasia with atlantoaxial instability +OMIM:304500 skos:exactMatch UMLS:C1844677 Unspecified deafness, X-linked 1 +OMIM:600560 skos:exactMatch HGNC:10840 Unspecified SHC1 +OMIM:600560 skos:exactMatch HGNC_symbol:SHC1 Unspecified SHC1 +OMIM:600560 skos:exactMatch UMLS:C1335821 Unspecified SHC1 +OMIM:612529 skos:exactMatch UMLS:C2675858 Unspecified amelogenesis imperfecta, hypomaturation type, iia2 +OMIM:612527 skos:exactMatch UMLS:C2675860 Unspecified diamond-blackfan anemia 4 +OMIM:612528 skos:exactMatch UMLS:C2675859 Unspecified diamond-blackfan anemia 5 +OMIM:612525 skos:exactMatch UMLS:C2675862 Unspecified pyloric stenosis, infantile hypertrophic, 5 +OMIM:612526 skos:exactMatch UMLS:C2675861 Unspecified lipodystrophy, congenital generalized, iia 3 +OMIM:257790 skos:exactMatch UMLS:C2931646 Unspecified oculocerebral hypopigmentation syndrome of preus +OMIM:612523 skos:exactMatch HGNC:25721 Unspecified None +OMIM:612523 skos:exactMatch HGNC_symbol:IQCH Unspecified None +OMIM:612523 skos:exactMatch UMLS:C1825615 Unspecified None +OMIM:612524 skos:exactMatch HGNC_symbol:RPP21 Unspecified RPP21 +OMIM:612524 skos:exactMatch HGNC:21300 Unspecified RPP21 +OMIM:612524 skos:exactMatch UMLS:C1427477 Unspecified RPP21 +OMIM:612521 skos:exactMatch UMLS:C2675865 Unspecified iia 1 diabetes mellitus 21 +OMIM:612522 skos:exactMatch UMLS:C2675864 Unspecified iia 1 diabetes mellitus 22 +OMIM:612520 skos:exactMatch UMLS:C2675866 Unspecified iia 1 diabetes mellitus 20 +OMIM:255125 skos:exactMatch UMLS:C1850718 Unspecified myopathy with lactic acidosis, hereditary +OMIM:255120 skos:exactMatch UMLS:C1829703 Unspecified carnitine palmitoyltransferase 1 deficiency +OMIM:600559 skos:exactMatch UMLS:C1833607 Unspecified hydrocephalus, endocardial fibroelastosis, and cataracts +OMIM:600558 skos:exactMatch UMLS:C1335874 Unspecified STAT4 +OMIM:600558 skos:exactMatch HGNC:11365 Unspecified STAT4 +OMIM:600558 skos:exactMatch HGNC_symbol:STAT4 Unspecified STAT4 +OMIM:600556 skos:exactMatch UMLS:C5394391 Unspecified STAT2 +OMIM:600556 skos:exactMatch HGNC:11363 Unspecified STAT2 +OMIM:600556 skos:exactMatch UMLS:C4225260 Unspecified STAT2 +OMIM:600556 skos:exactMatch HGNC_symbol:STAT2 Unspecified STAT2 +OMIM:600556 skos:exactMatch UMLS:C1335873 Unspecified STAT2 +OMIM:600555 skos:exactMatch UMLS:C3151088 Unspecified STAT1 +OMIM:600555 skos:exactMatch HGNC:11362 Unspecified STAT1 +OMIM:600555 skos:exactMatch UMLS:C3279990 Unspecified STAT1 +OMIM:600555 skos:exactMatch HGNC_symbol:STAT1 Unspecified STAT1 +OMIM:600555 skos:exactMatch UMLS:C4013950 Unspecified STAT1 +OMIM:600555 skos:exactMatch UMLS:C1335872 Unspecified STAT1 +OMIM:600554 skos:exactMatch HGNC_symbol:IL15 Unspecified IL15 +OMIM:600554 skos:exactMatch HGNC:5977 Unspecified IL15 +OMIM:600554 skos:exactMatch UMLS:C1334105 Unspecified IL15 +OMIM:600553 skos:exactMatch HGNC:4515 Unspecified GPR6 +OMIM:600553 skos:exactMatch UMLS:C1415249 Unspecified GPR6 +OMIM:600553 skos:exactMatch HGNC_symbol:GPR6 Unspecified GPR6 +OMIM:600552 skos:exactMatch HGNC_symbol:XCR1 Unspecified XCR1 +OMIM:600552 skos:exactMatch UMLS:C1337029 Unspecified XCR1 +OMIM:600552 skos:exactMatch HGNC:1625 Unspecified XCR1 +OMIM:600551 skos:exactMatch HGNC:4497 Unspecified GPR4 +OMIM:600551 skos:exactMatch UMLS:C1415233 Unspecified GPR4 +OMIM:600551 skos:exactMatch HGNC_symbol:GPR4 Unspecified GPR4 +OMIM:243110 skos:exactMatch UMLS:C1855735 Unspecified immunodeficiency with defective t-cell response to interleukin 1 +OMIM:612598 skos:exactMatch UMLS:C1335629 Unspecified RNF11 +OMIM:612598 skos:exactMatch HGNC_symbol:RNF11 Unspecified RNF11 +OMIM:612598 skos:exactMatch HGNC:10056 Unspecified RNF11 +OMIM:137900 skos:exactMatch UMLS:C1842009 Unspecified globulin anomaly involving beta (2a)-globulin +OMIM:612599 skos:exactMatch UMLS:C2675475 Unspecified psoriasis 11, susceptibility to +OMIM:612596 skos:exactMatch UMLS:C2675476 Unspecified multiple sclerosis, susceptibility to, 4 +OMIM:612597 skos:exactMatch HGNC_symbol:CRTAM Unspecified CRTAM +OMIM:612597 skos:exactMatch UMLS:C1824797 Unspecified CRTAM +OMIM:612597 skos:exactMatch HGNC:24313 Unspecified CRTAM +OMIM:612589 skos:exactMatch UMLS:C2675483 Unspecified colorectal cancer, susceptibility to, 8 +OMIM:221790 skos:exactMatch UMLS:C1857314 Unspecified dermatoleukodystrophy +OMIM:612587 skos:exactMatch UMLS:C2675484 Unspecified aneurysm, intracranial berry, 10 +OMIM:612588 skos:exactMatch HGNC_symbol:BCLAF1 Unspecified BCLAF1 +OMIM:612588 skos:exactMatch HGNC:16863 Unspecified BCLAF1 +OMIM:612588 skos:exactMatch UMLS:C1424602 Unspecified BCLAF1 +OMIM:612585 skos:exactMatch HGNC_symbol:CLPTM1L Unspecified CLPTM1L +OMIM:612585 skos:exactMatch UMLS:C1824755 Unspecified CLPTM1L +OMIM:612585 skos:exactMatch HGNC:24308 Unspecified CLPTM1L +OMIM:612586 skos:exactMatch UMLS:C2675485 Unspecified aneurysm, intracranial berry, 9 +OMIM:612594 skos:exactMatch UMLS:C2675478 Unspecified multiple sclerosis, susceptibility to, 2 +OMIM:612595 skos:exactMatch UMLS:C2675477 Unspecified multiple sclerosis, susceptibility to, 3 +OMIM:255100 skos:exactMatch UMLS:C4310822 Unspecified lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency +OMIM:612592 skos:exactMatch UMLS:C2675480 Unspecified colorectal cancer, susceptibility to, 11 +OMIM:612593 skos:exactMatch UMLS:C2675479 Unspecified lung cancer susceptibility 4 +OMIM:612590 skos:exactMatch UMLS:C2675482 Unspecified colorectal cancer, susceptibility to, 9 +OMIM:612591 skos:exactMatch UMLS:C2675481 Unspecified colorectal cancer, susceptibility to, 10 +OMIM:600594 skos:exactMatch UMLS:C1414026 Unspecified DGCR2 +OMIM:600594 skos:exactMatch HGNC:2845 Unspecified DGCR2 +OMIM:600594 skos:exactMatch HGNC_symbol:DGCR2 Unspecified DGCR2 +OMIM:269720 skos:exactMatch UMLS:C1849250 Unspecified seizures, benign familial neonatal, autosomal recessive +OMIM:600593 skos:exactMatch UMLS:C1833578 Unspecified craniosynostosis, adelaide iia +OMIM:137920 skos:exactMatch UMLS:C0431693 Unspecified renal cysts and diabetes syndrome +OMIM:600592 skos:exactMatch UMLS:C1334494 Unspecified MCM7 +OMIM:600592 skos:exactMatch HGNC:6950 Unspecified MCM7 +OMIM:600592 skos:exactMatch HGNC_symbol:MCM7 Unspecified MCM7 +OMIM:600591 skos:exactMatch HGNC:11134 Unspecified SNAPC1 +OMIM:600591 skos:exactMatch HGNC_symbol:SNAPC1 Unspecified SNAPC1 +OMIM:600591 skos:exactMatch UMLS:C1420272 Unspecified SNAPC1 +OMIM:600590 skos:exactMatch HGNC:9282 Unspecified PPP1CB +OMIM:600590 skos:exactMatch HGNC_symbol:PPP1CB Unspecified PPP1CB +OMIM:600590 skos:exactMatch UMLS:C1418820 Unspecified PPP1CB +OMIM:612578 skos:exactMatch UMLS:C2675490 Unspecified stature quantitative trait locus 15 +OMIM:612579 skos:exactMatch UMLS:C2675489 Unspecified stature quantitative trait locus 16 +OMIM:612576 skos:exactMatch UMLS:C2675492 Unspecified chromosome 17p13.3, telomeric, duplication syndrome +OMIM:612577 skos:exactMatch UMLS:C2675491 Unspecified amyotrophic lateral sclerosis 11 +OMIM:612574 skos:exactMatch UMLS:C2675494 Unspecified mean platelet volume/count quantitative trait locus 2 +OMIM:612575 skos:exactMatch UMLS:C2675493 Unspecified mean platelet volume/count quantitative trait locus 3 +OMIM:612583 skos:exactMatch HGNC:30621 Unspecified SPNS1 +OMIM:612583 skos:exactMatch UMLS:C2240043 Unspecified SPNS1 +OMIM:612583 skos:exactMatch HGNC_symbol:SPNS1 Unspecified SPNS1 +OMIM:612584 skos:exactMatch HGNC:26992 Unspecified SPNS2 +OMIM:612584 skos:exactMatch UMLS:C2240044 Unspecified SPNS2 +OMIM:612584 skos:exactMatch HGNC_symbol:SPNS2 Unspecified SPNS2 +OMIM:612581 skos:exactMatch UMLS:C2675487 Unspecified intellectual developmental disorder, autosomal dominant 4 +OMIM:612582 skos:exactMatch UMLS:C2675486 Unspecified chromosome 6pter-p24 deletion syndrome +OMIM:612580 skos:exactMatch UMLS:C2675488 Unspecified intellectual developmental disorder, autosomal dominant 3 +OMIM:600589 skos:exactMatch UMLS:C1420400 Unspecified SRF +OMIM:600589 skos:exactMatch HGNC_symbol:SRF Unspecified SRF +OMIM:600589 skos:exactMatch HGNC:11291 Unspecified SRF +OMIM:600587 skos:exactMatch UMLS:C1418753 Unspecified POMZP3 +OMIM:600587 skos:exactMatch HGNC:9203 Unspecified POMZP3 +OMIM:600587 skos:exactMatch HGNC_symbol:POMZP3 Unspecified POMZP3 +OMIM:600586 skos:exactMatch HGNC_symbol:ECT2 Unspecified ECT2 +OMIM:600586 skos:exactMatch HGNC:3155 Unspecified ECT2 +OMIM:600586 skos:exactMatch UMLS:C1414250 Unspecified ECT2 +OMIM:600585 skos:exactMatch UMLS:C1420716 Unspecified TGM4 +OMIM:600585 skos:exactMatch HGNC_symbol:TGM4 Unspecified TGM4 +OMIM:600585 skos:exactMatch HGNC:11780 Unspecified TGM4 +OMIM:600584 skos:exactMatch HGNC:2488 Unspecified NKX2-5 +OMIM:600584 skos:exactMatch HGNC_symbol:NKX2-5 Unspecified NKX2-5 +OMIM:600584 skos:exactMatch UMLS:C1413784 Unspecified NKX2-5 +OMIM:243100 skos:exactMatch UMLS:C1855736 Unspecified internal carotid arteries, hypoplasia of +OMIM:612569 skos:exactMatch UMLS:C1428361 Unspecified CCAR1 +OMIM:612569 skos:exactMatch HGNC_symbol:CCAR1 Unspecified CCAR1 +OMIM:612569 skos:exactMatch HGNC:24236 Unspecified CCAR1 +OMIM:612567 skos:exactMatch UMLS:C2675508 Unspecified inflammatory bowel disease 25, autosomal recessive +OMIM:612568 skos:exactMatch UMLS:C1428871 Unspecified SPIC +OMIM:612568 skos:exactMatch HGNC:29549 Unspecified SPIC +OMIM:612568 skos:exactMatch HGNC_symbol:SPIC Unspecified SPIC +OMIM:612565 skos:exactMatch HGNC:18370 Unspecified RAB1B +OMIM:612565 skos:exactMatch HGNC_symbol:RAB1B Unspecified RAB1B +OMIM:612565 skos:exactMatch UMLS:C1425479 Unspecified RAB1B +OMIM:150900 skos:exactMatch UMLS:C0023321 Unspecified lentigines +OMIM:612566 skos:exactMatch UMLS:C2675509 Unspecified inflammatory bowel disease 24 +OMIM:612563 skos:exactMatch UMLS:C2675511 Unspecified diamond-blackfan anemia 8 +OMIM:612564 skos:exactMatch UMLS:C1540135 Unspecified TXNDC9 +OMIM:612564 skos:exactMatch HGNC_symbol:TXNDC9 Unspecified TXNDC9 +OMIM:612564 skos:exactMatch HGNC:24110 Unspecified TXNDC9 +OMIM:612572 skos:exactMatch UMLS:C2675496 Unspecified retinitis pigmentosa 46 +OMIM:612572 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 46 +OMIM:612573 skos:exactMatch UMLS:C2675495 Unspecified mean platelet volume/count quantitative trait locus 1 +OMIM:612570 skos:exactMatch UMLS:C1414543 Unspecified FBN2 +OMIM:612570 skos:exactMatch HGNC_symbol:FBN2 Unspecified FBN2 +OMIM:612570 skos:exactMatch HGNC:3604 Unspecified FBN2 +OMIM:612571 skos:exactMatch UMLS:C2675497 Unspecified lung cancer susceptibility 3 +OMIM:600599 skos:exactMatch UMLS:C1416657 Unspecified KLF1 +OMIM:600599 skos:exactMatch HGNC_symbol:KLF1 Unspecified KLF1 +OMIM:600599 skos:exactMatch HGNC:6345 Unspecified KLF1 +OMIM:600598 skos:exactMatch UMLS:C1833577 Unspecified setting-sun phenomenon, familial benign +OMIM:600597 skos:exactMatch HGNC:9063 Unspecified PLCL1 +OMIM:600597 skos:exactMatch HGNC_symbol:PLCL1 Unspecified PLCL1 +OMIM:600597 skos:exactMatch UMLS:C1418638 Unspecified PLCL1 +OMIM:600596 skos:exactMatch HGNC_symbol:MFAP4 Unspecified MFAP4 +OMIM:600596 skos:exactMatch HGNC:7035 Unspecified MFAP4 +OMIM:600596 skos:exactMatch UMLS:C1417129 Unspecified MFAP4 +OMIM:270700 skos:exactMatch UMLS:C1849128 Unspecified spastic paraplegia 15, autosomal recessive +OMIM:600595 skos:exactMatch UMLS:C1825572 Unspecified IFT88 +OMIM:600595 skos:exactMatch HGNC:20606 Unspecified IFT88 +OMIM:600595 skos:exactMatch HGNC_symbol:IFT88 Unspecified IFT88 +OMIM:137940 skos:exactMatch ORPHA:69735 Unspecified hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +OMIM:137940 skos:exactMatch UMLS:C1841989 Unspecified hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +OMIM:137940 skos:exactMatch UMLS:C4317151 Unspecified hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +OMIM:269700 skos:exactMatch UMLS:C1720863 Unspecified lipodystrophy, congenital generalized, iia 2 +OMIM:221760 skos:exactMatch UMLS:C1857329 Unspecified dermatoglyphics--palmar triradius d, absence of +OMIM:162900 skos:exactMatch UMLS:C3854181 Unspecified nevus, epidermal +OMIM:162900 skos:exactMatch UMLS:C0334082 Unspecified nevus, epidermal +OMIM:162900 skos:exactMatch UMLS:C0343114 Unspecified nevus, epidermal +OMIM:137950 skos:exactMatch UMLS:C0403557 Unspecified glomerulopathy with fibronectin deposits 1 +OMIM:221750 skos:exactMatch UMLS:C3489787 Unspecified pituitary hormone deficiency, combined, 3 +OMIM:135300 skos:exactMatch UMLS:C4551558 Unspecified fibromatosis, gingival, 1 +OMIM:135300 skos:exactMatch UMLS:C0399440 Unspecified fibromatosis, gingival, 1 +OMIM:137960 skos:exactMatch HGNC:7224 Unspecified MPV17 +OMIM:137960 skos:exactMatch HGNC_symbol:MPV17 Unspecified MPV17 +OMIM:137960 skos:exactMatch UMLS:C1417247 Unspecified MPV17 +OMIM:221780 skos:exactMatch UMLS:C1857315 Unspecified dermatoglyphics--hypothenar radial arch +OMIM:174900 skos:exactMatch UMLS:C0345893 Unspecified juvenile polyposis syndrome +OMIM:174900 skos:exactMatch UMLS:C1868081 Unspecified juvenile polyposis syndrome +OMIM:174900 skos:exactMatch UMLS:C1832940 Unspecified juvenile polyposis syndrome +OMIM:231100 skos:exactMatch UMLS:C0268059 Unspecified hemochromatosis, neonatal +OMIM:221770 skos:exactMatch UMLS:C4721893 Unspecified polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +OMIM:186910 skos:exactMatch UMLS:C1861281 Unspecified CD8A +OMIM:186910 skos:exactMatch HGNC_symbol:CD8A Unspecified CD8A +OMIM:186910 skos:exactMatch UMLS:C1413244 Unspecified CD8A +OMIM:186910 skos:exactMatch HGNC:1706 Unspecified CD8A +OMIM:208750 skos:exactMatch UMLS:C1859645 Unspecified ataxia, deafness, and cardiomyopathy +OMIM:233700 skos:exactMatch UMLS:C1856251 Unspecified granulomatous disease, chronic, autosomal recessive, 1 +OMIM:233700 skos:exactMatch ORPHA:379 Unspecified granulomatous disease, chronic, autosomal recessive, 1 +OMIM:147300 skos:exactMatch UMLS:C1840227 Unspecified incisors, long upper central +OMIM:186921 skos:exactMatch HGNC:6641 Unspecified LMO1 +OMIM:186921 skos:exactMatch UMLS:C1416881 Unspecified LMO1 +OMIM:186921 skos:exactMatch HGNC_symbol:LMO1 Unspecified LMO1 +OMIM:147310 skos:exactMatch HGNC:10637 Unspecified CXCL10 +OMIM:147310 skos:exactMatch UMLS:C1367714 Unspecified CXCL10 +OMIM:147310 skos:exactMatch HGNC_symbol:CXCL10 Unspecified CXCL10 +OMIM:206100 skos:exactMatch UMLS:C3806153 Unspecified anemia, hypochromic microcytic, with iron overload 1 +OMIM:160300 skos:exactMatch UMLS:C4011725 Unspecified myopathy, distal, infantile-onset +OMIM:221745 skos:exactMatch UMLS:C1857332 Unspecified deafness, sensorineural, autosomal-mitochondrial iia +OMIM:221740 skos:exactMatch UMLS:C1857333 Unspecified deafness-oligodontia syndrome +OMIM:147320 skos:exactMatch UMLS:C1840226 Unspecified insulin receptors, familial increase 1n +OMIM:159300 skos:exactMatch UMLS:C1834650 Unspecified musical perfect pitch +OMIM:218100 skos:exactMatch UMLS:C1857531 Unspecified cranial nerves, congenital paresis of +OMIM:233710 skos:exactMatch UMLS:C1856245 Unspecified granulomatous disease, chronic, autosomal recessive, 2 +OMIM:233710 skos:exactMatch ORPHA:379 Unspecified granulomatous disease, chronic, autosomal recessive, 2 +OMIM:147330 skos:exactMatch UMLS:C1840225 Unspecified incisors, lower central, absence of +OMIM:174600 skos:exactMatch UMLS:C1868113 Unspecified polydactyly, preaxial 3 +OMIM:125670 skos:exactMatch UMLS:C1414168 Unspecified DSG1 +OMIM:125670 skos:exactMatch HGNC_symbol:DSG1 Unspecified DSG1 +OMIM:125670 skos:exactMatch HGNC:3048 Unspecified DSG1 +OMIM:125671 skos:exactMatch UMLS:C1414169 Unspecified DSG2 +OMIM:125671 skos:exactMatch HGNC_symbol:DSG2 Unspecified DSG2 +OMIM:125671 skos:exactMatch HGNC:3049 Unspecified DSG2 +OMIM:186600 skos:exactMatch UMLS:C1861302 Unspecified syringomas, multiple +OMIM:123000 skos:exactMatch ORPHA:1522 Unspecified craniometaphyseal dysplasia, autosomal dominant +OMIM:123000 skos:exactMatch UMLS:C1852502 Unspecified craniometaphyseal dysplasia, autosomal dominant +OMIM:125660 skos:exactMatch UMLS:C1867005 Unspecified DES +OMIM:125660 skos:exactMatch HGNC:2770 Unspecified DES +OMIM:125660 skos:exactMatch HGNC_symbol:DES Unspecified DES +OMIM:125660 skos:exactMatch UMLS:C1858154 Unspecified DES +OMIM:125660 skos:exactMatch UMLS:C1413980 Unspecified DES +OMIM:125660 skos:exactMatch UMLS:C1832370 Unspecified DES +OMIM:162643 skos:exactMatch UMLS:C1332823 Unspecified CXCR4 +OMIM:162643 skos:exactMatch HGNC_symbol:CXCR4 Unspecified CXCR4 +OMIM:162643 skos:exactMatch HGNC:2561 Unspecified CXCR4 +OMIM:162642 skos:exactMatch HGNC:7957 Unspecified NPY2R +OMIM:162642 skos:exactMatch HGNC_symbol:NPY2R Unspecified NPY2R +OMIM:162642 skos:exactMatch UMLS:C1417817 Unspecified NPY2R +OMIM:162641 skos:exactMatch HGNC:7956 Unspecified NPY1R +OMIM:162641 skos:exactMatch HGNC_symbol:NPY1R Unspecified NPY1R +OMIM:162641 skos:exactMatch UMLS:C1417816 Unspecified NPY1R +OMIM:113670 skos:exactMatch UMLS:C0405471 Unspecified hypertrophy of the breast, juvenile +OMIM:113670 skos:exactMatch ORPHA:180176 Unspecified hypertrophy of the breast, juvenile +OMIM:162640 skos:exactMatch HGNC_symbol:NPY Unspecified NPY +OMIM:162640 skos:exactMatch HGNC:7955 Unspecified NPY +OMIM:162640 skos:exactMatch UMLS:C1417815 Unspecified NPY +OMIM:147000 skos:exactMatch UMLS:C1415934 Unspecified IGHA2 +OMIM:147000 skos:exactMatch HGNC:5479 Unspecified IGHA2 +OMIM:147000 skos:exactMatch HGNC_symbol:IGHA2 Unspecified IGHA2 +OMIM:111000 skos:exactMatch UMLS:C0022645 Unspecified blood group, kidd system +OMIM:147020 skos:exactMatch UMLS:C1415993 Unspecified IGHM +OMIM:147020 skos:exactMatch HGNC_symbol:IGHM Unspecified IGHM +OMIM:147020 skos:exactMatch HGNC:5541 Unspecified IGHM +OMIM:125643 skos:exactMatch HGNC_symbol:DSC1 Unspecified DSC1 +OMIM:125643 skos:exactMatch HGNC:3035 Unspecified DSC1 +OMIM:125643 skos:exactMatch UMLS:C1414156 Unspecified DSC1 +OMIM:147010 skos:exactMatch UMLS:C1415983 Unspecified IGHJ@ +OMIM:147010 skos:exactMatch HGNC_symbol:IGH Unspecified IGHJ@ +OMIM:147010 skos:exactMatch HGNC:5477 Unspecified IGHJ@ +OMIM:125640 skos:exactMatch UMLS:C1852144 Unspecified dermoodontodysplasia +OMIM:125647 skos:exactMatch HGNC:3052 Unspecified DSP +OMIM:125647 skos:exactMatch HGNC_symbol:DSP Unspecified DSP +OMIM:125647 skos:exactMatch UMLS:C1414172 Unspecified DSP +OMIM:125645 skos:exactMatch HGNC_symbol:DSC2 Unspecified DSC2 +OMIM:125645 skos:exactMatch HGNC:3036 Unspecified DSC2 +OMIM:125645 skos:exactMatch UMLS:C1414157 Unspecified DSC2 +OMIM:113650 skos:exactMatch UMLS:C4551702 Unspecified branchiootorenal syndrome 1 +OMIM:162660 skos:exactMatch HGNC:8023 Unspecified NTF3 +OMIM:162660 skos:exactMatch HGNC_symbol:NTF3 Unspecified NTF3 +OMIM:162660 skos:exactMatch UMLS:C1334907 Unspecified NTF3 +OMIM:160000 skos:exactMatch HGNC:6915 Unspecified MB +OMIM:160000 skos:exactMatch UMLS:C1417048 Unspecified MB +OMIM:160000 skos:exactMatch HGNC_symbol:MB Unspecified MB +OMIM:162662 skos:exactMatch UMLS:C1417863 Unspecified NTF4 +OMIM:162662 skos:exactMatch HGNC:8024 Unspecified NTF4 +OMIM:162662 skos:exactMatch HGNC_symbol:NTF4 Unspecified NTF4 +OMIM:125630 skos:exactMatch UMLS:C0157743 Unspecified vibratory urticaria +OMIM:125630 skos:exactMatch UMLS:C1852146 Unspecified vibratory urticaria +OMIM:125635 skos:exactMatch UMLS:C1852145 Unspecified dermographism, familial +OMIM:162650 skos:exactMatch UMLS:C1417869 Unspecified NTS +OMIM:162650 skos:exactMatch HGNC:8038 Unspecified NTS +OMIM:162650 skos:exactMatch HGNC_symbol:NTS Unspecified NTS +OMIM:162651 skos:exactMatch UMLS:C1417870 Unspecified NTSR1 +OMIM:162651 skos:exactMatch HGNC:8039 Unspecified NTSR1 +OMIM:162651 skos:exactMatch HGNC_symbol:NTSR1 Unspecified NTSR1 +OMIM:147040 skos:exactMatch HGNC:5409 Unspecified IFIT2 +OMIM:147040 skos:exactMatch HGNC_symbol:IFIT2 Unspecified IFIT2 +OMIM:147040 skos:exactMatch UMLS:C1415894 Unspecified IFIT2 +OMIM:147050 skos:exactMatch UMLS:C0236175 Unspecified ige responsiveness, atopic +OMIM:147050 skos:exactMatch UMLS:C1840254 Unspecified ige responsiveness, atopic +OMIM:147050 skos:exactMatch UMLS:C1840253 Unspecified ige responsiveness, atopic +OMIM:147050 skos:exactMatch UMLS:C0020523 Unspecified ige responsiveness, atopic +OMIM:150699 skos:exactMatch UMLS:C0042133 Unspecified leiomyoma, uterine +OMIM:147045 skos:exactMatch HGNC_symbol:FCAR Unspecified FCAR +OMIM:147045 skos:exactMatch HGNC:3608 Unspecified FCAR +OMIM:147045 skos:exactMatch UMLS:C1414546 Unspecified FCAR +OMIM:172000 skos:exactMatch HGNC_symbol:PGM2 Unspecified PGM2 +OMIM:172000 skos:exactMatch UMLS:C1418517 Unspecified PGM2 +OMIM:172000 skos:exactMatch HGNC:8906 Unspecified PGM2 +OMIM:113620 skos:exactMatch UMLS:C0376524 Unspecified branchiooculofacial syndrome +OMIM:160010 skos:exactMatch UMLS:C1834567 Unspecified myoglobinuria, autosomal dominant +OMIM:147060 skos:exactMatch UMLS:C2936739 Unspecified hyper-ige recurrent infection syndrome 1, autosomal dominant +OMIM:147060 skos:exactMatch UMLS:C3887645 Unspecified hyper-ige recurrent infection syndrome 1, autosomal dominant +OMIM:147060 skos:exactMatch UMLS:C4721531 Unspecified hyper-ige recurrent infection syndrome 1, autosomal dominant +OMIM:147060 skos:exactMatch ORPHA:2314 Unspecified hyper-ige recurrent infection syndrome 1, autosomal dominant +OMIM:147061 skos:exactMatch UMLS:C1840252 Unspecified immunoglobulin e concentration, serum +OMIM:125600 skos:exactMatch UMLS:C0011645 Unspecified dermatosis papulosa nigra +OMIM:113610 skos:exactMatch UMLS:C1862071 Unspecified branchial myoclonus with spastic paraparesis and cerebellar ataxia +OMIM:612718 skos:exactMatch UMLS:C2675179 Unspecified cerebral creatine deficiency syndrome 3 +OMIM:612719 skos:exactMatch HGNC_symbol:PTS Unspecified PTS +OMIM:612719 skos:exactMatch UMLS:C1419129 Unspecified PTS +OMIM:612719 skos:exactMatch HGNC:9689 Unspecified PTS +OMIM:612716 skos:exactMatch UMLS:C0268468 Unspecified dystonia, dopa-responsive, due to sepiapterin reductase deficiency +OMIM:612717 skos:exactMatch UMLS:C2675180 Unspecified myopia 15, autosomal dominant +OMIM:612714 skos:exactMatch UMLS:C2675184 Unspecified exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis +OMIM:612715 skos:exactMatch UMLS:C2675183 Unspecified dyschromatosis universalis hereditaria 2 +OMIM:612712 skos:exactMatch UMLS:C2675186 Unspecified leber congenital amaurosis 13 +OMIM:612712 skos:exactMatch UMLS:C3150208 Unspecified leber congenital amaurosis 13 +OMIM:612713 skos:exactMatch UMLS:C2675185 Unspecified kahrizi syndrome +OMIM:147070 skos:exactMatch UMLS:C1415996 Unspecified IGHV@ +OMIM:147070 skos:exactMatch HGNC_symbol:IGH Unspecified IGHV@ +OMIM:147070 skos:exactMatch HGNC:5477 Unspecified IGHV@ +OMIM:612710 skos:exactMatch UMLS:C1826818 Unspecified RGPD7 +OMIM:612711 skos:exactMatch HGNC:23218 Unspecified GCC2 +OMIM:612711 skos:exactMatch UMLS:C1427997 Unspecified GCC2 +OMIM:612711 skos:exactMatch HGNC_symbol:GCC2 Unspecified GCC2 +OMIM:600729 skos:exactMatch HGNC:7786 Unspecified NFIC +OMIM:600729 skos:exactMatch HGNC_symbol:NFIC Unspecified NFIC +OMIM:600729 skos:exactMatch UMLS:C1417705 Unspecified NFIC +OMIM:600728 skos:exactMatch HGNC:7785 Unspecified NFIB +OMIM:600728 skos:exactMatch HGNC_symbol:NFIB Unspecified NFIB +OMIM:600728 skos:exactMatch UMLS:C1417704 Unspecified NFIB +OMIM:600727 skos:exactMatch HGNC:7784 Unspecified NFIA +OMIM:600727 skos:exactMatch HGNC_symbol:NFIA Unspecified NFIA +OMIM:600727 skos:exactMatch UMLS:C1417703 Unspecified NFIA +OMIM:600726 skos:exactMatch HGNC:5956 Unspecified IHH +OMIM:600726 skos:exactMatch UMLS:C1416377 Unspecified IHH +OMIM:600726 skos:exactMatch HGNC_symbol:IHH Unspecified IHH +OMIM:600725 skos:exactMatch HGNC_symbol:SHH Unspecified SHH +OMIM:600725 skos:exactMatch HGNC:10848 Unspecified SHH +OMIM:600725 skos:exactMatch UMLS:C1335824 Unspecified SHH +OMIM:600724 skos:exactMatch HGNC:2151 Unspecified CNGB1 +OMIM:600724 skos:exactMatch HGNC_symbol:CNGB1 Unspecified CNGB1 +OMIM:600724 skos:exactMatch UMLS:C1413546 Unspecified CNGB1 +OMIM:600723 skos:exactMatch HGNC_symbol:MPP2 Unspecified MPP2 +OMIM:600723 skos:exactMatch HGNC:7220 Unspecified MPP2 +OMIM:600723 skos:exactMatch UMLS:C1334526 Unspecified MPP2 +OMIM:600722 skos:exactMatch UMLS:C1418854 Unspecified PPT1 +OMIM:600722 skos:exactMatch HGNC_symbol:PPT1 Unspecified PPT1 +OMIM:600722 skos:exactMatch HGNC:9325 Unspecified PPT1 +OMIM:600721 skos:exactMatch UMLS:C3152055 Unspecified d-2-hydroxyglutaric aciduria 1 +OMIM:600720 skos:exactMatch UMLS:C1417762 Unspecified nitric oxide synthase 2 pseudogene 1 +OMIM:600720 skos:exactMatch HGNC_symbol:NOS2P1 Unspecified nitric oxide synthase 2 pseudogene 1 +OMIM:600720 skos:exactMatch HGNC:7875 Unspecified nitric oxide synthase 2 pseudogene 1 +OMIM:612709 skos:exactMatch HGNC_symbol:RGPD6 Unspecified RGPD6 +OMIM:612709 skos:exactMatch UMLS:C1826817 Unspecified RGPD6 +OMIM:612709 skos:exactMatch HGNC:32419 Unspecified RGPD6 +OMIM:612707 skos:exactMatch HGNC_symbol:RGPD4 Unspecified RGPD4 +OMIM:612707 skos:exactMatch UMLS:C1826815 Unspecified RGPD4 +OMIM:612707 skos:exactMatch HGNC:32417 Unspecified RGPD4 +OMIM:612708 skos:exactMatch HGNC_symbol:RGPD5 Unspecified RGPD5 +OMIM:612708 skos:exactMatch UMLS:C1826816 Unspecified RGPD5 +OMIM:612708 skos:exactMatch HGNC:32418 Unspecified RGPD5 +OMIM:612705 skos:exactMatch HGNC_symbol:RGPD2 Unspecified RGPD2 +OMIM:612705 skos:exactMatch UMLS:C1826813 Unspecified RGPD2 +OMIM:612705 skos:exactMatch HGNC:32415 Unspecified RGPD2 +OMIM:612706 skos:exactMatch HGNC_symbol:RGPD3 Unspecified RGPD3 +OMIM:612706 skos:exactMatch UMLS:C1826814 Unspecified RGPD3 +OMIM:612706 skos:exactMatch HGNC:32416 Unspecified RGPD3 +OMIM:612703 skos:exactMatch UMLS:C2675187 Unspecified microcephaly 7, primary, autosomal recessive +OMIM:612704 skos:exactMatch HGNC_symbol:RGPD1 Unspecified RGPD1 +OMIM:612704 skos:exactMatch UMLS:C1826812 Unspecified RGPD1 +OMIM:612704 skos:exactMatch HGNC:32414 Unspecified RGPD1 +OMIM:612701 skos:exactMatch UMLS:C2239890 Unspecified RIMBP3C +OMIM:612701 skos:exactMatch HGNC:33892 Unspecified RIMBP3C +OMIM:612701 skos:exactMatch HGNC_symbol:RIMBP3C Unspecified RIMBP3C +OMIM:612702 skos:exactMatch UMLS:C3552574 Unspecified hypogonadotropic hypogonadism 6 with or without anosmia +OMIM:147080 skos:exactMatch UMLS:C3887956 Unspecified immune response to synthetic polypeptide--irglphe 1 +OMIM:612700 skos:exactMatch UMLS:C2239889 Unspecified RIMBP3B +OMIM:612700 skos:exactMatch HGNC:33891 Unspecified RIMBP3B +OMIM:612700 skos:exactMatch HGNC_symbol:RIMBP3B Unspecified RIMBP3B +OMIM:113600 skos:exactMatch UMLS:C0006131 Unspecified branchial cleft anomalies +OMIM:113600 skos:exactMatch UMLS:C0079037 Unspecified branchial cleft anomalies +OMIM:600739 skos:exactMatch HGNC_symbol:SHC1P2 Unspecified SHCL1 +OMIM:600739 skos:exactMatch UMLS:C1420035 Unspecified SHCL1 +OMIM:600739 skos:exactMatch HGNC:10842 Unspecified SHCL1 +OMIM:600738 skos:exactMatch HGNC_symbol:SELPLG Unspecified SELPLG +OMIM:600738 skos:exactMatch UMLS:C1419941 Unspecified SELPLG +OMIM:600738 skos:exactMatch HGNC:10722 Unspecified SELPLG +OMIM:600736 skos:exactMatch UMLS:C1833380 Unspecified velofacioskeletal syndrome +OMIM:600735 skos:exactMatch HGNC:5399 Unspecified IFI35 +OMIM:600735 skos:exactMatch HGNC_symbol:IFI35 Unspecified IFI35 +OMIM:600735 skos:exactMatch UMLS:C1415889 Unspecified IFI35 +OMIM:600734 skos:exactMatch UMLS:C1416587 Unspecified KCNJ5 +OMIM:600734 skos:exactMatch HGNC_symbol:KCNJ5 Unspecified KCNJ5 +OMIM:600734 skos:exactMatch HGNC:6266 Unspecified KCNJ5 +OMIM:600733 skos:exactMatch UMLS:C1826562 Unspecified PDX1 +OMIM:600733 skos:exactMatch HGNC:6107 Unspecified PDX1 +OMIM:600733 skos:exactMatch HGNC_symbol:PDX1 Unspecified PDX1 +OMIM:159050 skos:exactMatch UMLS:C1834652 Unspecified muscular dystrophy, pseudohypertrophic, with internalized capillaries +OMIM:600732 skos:exactMatch UMLS:C1824202 Unspecified ARL4D +OMIM:600732 skos:exactMatch HGNC:656 Unspecified ARL4D +OMIM:600732 skos:exactMatch HGNC_symbol:ARL4D Unspecified ARL4D +OMIM:600731 skos:exactMatch HGNC:4530 Unspecified GPR8 +OMIM:600731 skos:exactMatch UMLS:C1826462 Unspecified GPR8 +OMIM:600731 skos:exactMatch HGNC_symbol:NPBWR2 Unspecified GPR8 +OMIM:600730 skos:exactMatch UMLS:C1826461 Unspecified NPBWR1 +OMIM:600730 skos:exactMatch HGNC:4522 Unspecified NPBWR1 +OMIM:600730 skos:exactMatch HGNC_symbol:NPBWR1 Unspecified NPBWR1 +OMIM:306995 skos:exactMatch UMLS:C1415621 Unspecified homosexuality 1 +OMIM:147090 skos:exactMatch UMLS:C3887957 Unspecified immune response to synthetic polypeptide--irglphe 2 +OMIM:600709 skos:exactMatch UMLS:C1415832 Unspecified IARS1 +OMIM:600709 skos:exactMatch HGNC:5330 Unspecified IARS1 +OMIM:600709 skos:exactMatch HGNC_symbol:IARS1 Unspecified IARS1 +OMIM:101600 skos:exactMatch UMLS:C0220658 Unspecified pfeiffer syndrome +OMIM:600708 skos:exactMatch HGNC:11299 Unspecified SRP14 +OMIM:600708 skos:exactMatch HGNC_symbol:SRP14 Unspecified SRP14 +OMIM:600708 skos:exactMatch UMLS:C1420407 Unspecified SRP14 +OMIM:600707 skos:exactMatch HGNC_symbol:SRP9 Unspecified SRP9 +OMIM:600707 skos:exactMatch HGNC:11304 Unspecified SRP9 +OMIM:600707 skos:exactMatch UMLS:C1420411 Unspecified SRP9 +OMIM:600706 skos:exactMatch UMLS:C1833453 Unspecified proximal myopathy with focal depletion of mitochondria +OMIM:600705 skos:exactMatch UMLS:C1833454 Unspecified satoyoshi syndrome +OMIM:600703 skos:exactMatch UMLS:C1833455 Unspecified ribosomal protein s1-like +OMIM:600702 skos:exactMatch HGNC_symbol:SCN8A Unspecified SCN8A +OMIM:600702 skos:exactMatch UMLS:C4310728 Unspecified SCN8A +OMIM:600702 skos:exactMatch UMLS:C1419866 Unspecified SCN8A +OMIM:600702 skos:exactMatch UMLS:C5193056 Unspecified SCN8A +OMIM:600702 skos:exactMatch UMLS:C5193184 Unspecified SCN8A +OMIM:600702 skos:exactMatch HGNC:10596 Unspecified SCN8A +OMIM:600702 skos:exactMatch UMLS:C3281191 Unspecified SCN8A +OMIM:600702 skos:exactMatch UMLS:C3280415 Unspecified SCN8A +OMIM:600701 skos:exactMatch HGNC:5010 Unspecified HMGA1 +OMIM:600701 skos:exactMatch UMLS:C1333903 Unspecified HMGA1 +OMIM:600701 skos:exactMatch HGNC_symbol:HMGA1 Unspecified HMGA1 +OMIM:600701 skos:exactMatch UMLS:C3837967 Unspecified HMGA1 +OMIM:600700 skos:exactMatch UMLS:C1833458 Unspecified LPP +OMIM:600700 skos:exactMatch HGNC:6679 Unspecified LPP +OMIM:600700 skos:exactMatch UMLS:C1416904 Unspecified LPP +OMIM:600700 skos:exactMatch HGNC_symbol:LPP Unspecified LPP +OMIM:600700 skos:exactMatch UMLS:C1834583 Unspecified LPP +OMIM:304340 skos:exactMatch UMLS:C1845078 Unspecified pettigrew syndrome +OMIM:304340 skos:exactMatch UMLS:C0796254 Unspecified pettigrew syndrome +OMIM:184000 skos:exactMatch UMLS:C1866719 Unspecified spondyloepiphyseal dysplasia, myopia, and sensorineural deafness +OMIM:270460 skos:exactMatch UMLS:C0796162 Unspecified sonoda syndrome +OMIM:600719 skos:exactMatch HGNC:7874 Unspecified NOS2B +OMIM:600719 skos:exactMatch UMLS:C1417761 Unspecified NOS2B +OMIM:600719 skos:exactMatch HGNC_symbol:NOS2P2 Unspecified NOS2B +OMIM:600716 skos:exactMatch HGNC_symbol:PTPN22 Unspecified PTPN22 +OMIM:600716 skos:exactMatch UMLS:C1419102 Unspecified PTPN22 +OMIM:600716 skos:exactMatch HGNC:9652 Unspecified PTPN22 +OMIM:600715 skos:exactMatch HGNC:11788 Unspecified THBS4 +OMIM:600715 skos:exactMatch HGNC_symbol:THBS4 Unspecified THBS4 +OMIM:600715 skos:exactMatch UMLS:C1420722 Unspecified THBS4 +OMIM:600714 skos:exactMatch UMLS:C1333257 Unspecified DUSP1 +OMIM:600714 skos:exactMatch HGNC:3064 Unspecified DUSP1 +OMIM:600714 skos:exactMatch HGNC_symbol:DUSP1 Unspecified DUSP1 +OMIM:600713 skos:exactMatch HGNC:5208 Unspecified HSD11B1 +OMIM:600713 skos:exactMatch HGNC_symbol:HSD11B1 Unspecified HSD11B1 +OMIM:600713 skos:exactMatch UMLS:C1415736 Unspecified HSD11B1 +OMIM:551200 skos:exactMatch UMLS:C1838875 Unspecified nephropathy, chronic tubulointerstitial +OMIM:600712 skos:exactMatch HGNC:5044 Unspecified HNRNPK +OMIM:600712 skos:exactMatch UMLS:C1415645 Unspecified HNRNPK +OMIM:600712 skos:exactMatch HGNC_symbol:HNRNPK Unspecified HNRNPK +OMIM:600711 skos:exactMatch HGNC:3493 Unspecified ETV4 +OMIM:600711 skos:exactMatch HGNC_symbol:ETV4 Unspecified ETV4 +OMIM:600711 skos:exactMatch UMLS:C3274643 Unspecified ETV4 +OMIM:600711 skos:exactMatch UMLS:C1333362 Unspecified ETV4 +OMIM:304350 skos:exactMatch UMLS:C1844680 Unspecified deafness-hypogonadism syndrome +OMIM:600770 skos:exactMatch HGNC:7516 Unspecified MUC5B +OMIM:600770 skos:exactMatch UMLS:C1417498 Unspecified MUC5B +OMIM:600770 skos:exactMatch HGNC_symbol:MUC5B Unspecified MUC5B +OMIM:609109 skos:exactMatch UMLS:C1539496 Unspecified FBXO42 +OMIM:609109 skos:exactMatch HGNC:29249 Unspecified FBXO42 +OMIM:609109 skos:exactMatch HGNC_symbol:FBXO42 Unspecified FBXO42 +OMIM:270450 skos:exactMatch UMLS:C1849157 Unspecified insulin-like growth factor i, resistance to +OMIM:270450 skos:exactMatch UMLS:C1849158 Unspecified insulin-like growth factor i, resistance to +OMIM:612758 skos:exactMatch HGNC_symbol:TAPT1 Unspecified TAPT1 +OMIM:612758 skos:exactMatch HGNC:26887 Unspecified TAPT1 +OMIM:612758 skos:exactMatch UMLS:C2240065 Unspecified TAPT1 +OMIM:612759 skos:exactMatch UMLS:C0233778 Unspecified synesthesia +OMIM:612756 skos:exactMatch UMLS:C1823252 Unspecified TCAM1 +OMIM:612756 skos:exactMatch HGNC:30707 Unspecified TCAM1 +OMIM:612756 skos:exactMatch HGNC_symbol:TCAM1P Unspecified TCAM1 +OMIM:612757 skos:exactMatch UMLS:C2239507 Unspecified GPIHBP1 +OMIM:612757 skos:exactMatch HGNC:24945 Unspecified GPIHBP1 +OMIM:612757 skos:exactMatch HGNC_symbol:GPIHBP1 Unspecified GPIHBP1 +OMIM:612754 skos:exactMatch HGNC:15987 Unspecified GLRX3 +OMIM:612754 skos:exactMatch UMLS:C1423888 Unspecified GLRX3 +OMIM:612754 skos:exactMatch HGNC_symbol:GLRX3 Unspecified GLRX3 +OMIM:612755 skos:exactMatch UMLS:C1824351 Unspecified NAA25 +OMIM:612755 skos:exactMatch HGNC:25783 Unspecified NAA25 +OMIM:612755 skos:exactMatch HGNC_symbol:NAA25 Unspecified NAA25 +OMIM:612752 skos:exactMatch HGNC_symbol:CXXC5 Unspecified CXXC5 +OMIM:612752 skos:exactMatch HGNC:26943 Unspecified CXXC5 +OMIM:612752 skos:exactMatch UMLS:C1428636 Unspecified CXXC5 +OMIM:612753 skos:exactMatch HGNC_symbol:CCBE1 Unspecified CCBE1 +OMIM:612753 skos:exactMatch UMLS:C1539067 Unspecified CCBE1 +OMIM:612753 skos:exactMatch HGNC:29426 Unspecified CCBE1 +OMIM:612750 skos:exactMatch HGNC:28387 Unspecified LYZL4 +OMIM:612750 skos:exactMatch UMLS:C1537633 Unspecified LYZL4 +OMIM:612750 skos:exactMatch HGNC_symbol:LYZL4 Unspecified LYZL4 +OMIM:612751 skos:exactMatch HGNC_symbol:LYZL6 Unspecified LYZL6 +OMIM:612751 skos:exactMatch UMLS:C1537634 Unspecified LYZL6 +OMIM:612751 skos:exactMatch HGNC:29614 Unspecified LYZL6 +OMIM:612760 skos:exactMatch HGNC_symbol:SNRK Unspecified SNRK +OMIM:612760 skos:exactMatch HGNC:30598 Unspecified SNRK +OMIM:612760 skos:exactMatch UMLS:C1539800 Unspecified SNRK +OMIM:609111 skos:exactMatch HGNC_symbol:FBXO44 Unspecified FBXO44 +OMIM:609111 skos:exactMatch UMLS:C1539498 Unspecified FBXO44 +OMIM:609111 skos:exactMatch HGNC:24847 Unspecified FBXO44 +OMIM:609110 skos:exactMatch HGNC:28521 Unspecified FBXO43 +OMIM:609110 skos:exactMatch HGNC_symbol:FBXO43 Unspecified FBXO43 +OMIM:609110 skos:exactMatch UMLS:C1539497 Unspecified FBXO43 +OMIM:600769 skos:exactMatch HGNC_symbol:TSPAN8 Unspecified TSPAN8 +OMIM:600769 skos:exactMatch HGNC:11855 Unspecified TSPAN8 +OMIM:600769 skos:exactMatch UMLS:C1540088 Unspecified TSPAN8 +OMIM:600768 skos:exactMatch HGNC:9661 Unspecified PTPN9 +OMIM:600768 skos:exactMatch UMLS:C1419109 Unspecified PTPN9 +OMIM:600768 skos:exactMatch HGNC_symbol:PTPN9 Unspecified PTPN9 +OMIM:609115 skos:exactMatch UMLS:C1836765 Unspecified muscular dystrophy, limb-girdle, autosomal dominant 3 +OMIM:600767 skos:exactMatch UMLS:C1415039 Unspecified GDI2 +OMIM:600767 skos:exactMatch HGNC_symbol:GDI2 Unspecified GDI2 +OMIM:600767 skos:exactMatch HGNC:4227 Unspecified GDI2 +OMIM:609114 skos:exactMatch HGNC:15750 Unspecified DSTN +OMIM:609114 skos:exactMatch HGNC_symbol:DSTN Unspecified DSTN +OMIM:609114 skos:exactMatch UMLS:C1423702 Unspecified DSTN +OMIM:609113 skos:exactMatch UMLS:C1836777 Unspecified telomere length, mean leukocyte +OMIM:600764 skos:exactMatch UMLS:C1415592 Unspecified MR1 +OMIM:600764 skos:exactMatch HGNC_symbol:MR1 Unspecified MR1 +OMIM:600764 skos:exactMatch HGNC:4975 Unspecified MR1 +OMIM:609112 skos:exactMatch HGNC:29148 Unspecified FBXO45 +OMIM:609112 skos:exactMatch HGNC_symbol:FBXO45 Unspecified FBXO45 +OMIM:609112 skos:exactMatch UMLS:C1539499 Unspecified FBXO45 +OMIM:609119 skos:exactMatch HGNC:23194 Unspecified THAP11 +OMIM:609119 skos:exactMatch HGNC_symbol:THAP11 Unspecified THAP11 +OMIM:609119 skos:exactMatch UMLS:C1427980 Unspecified THAP11 +OMIM:600763 skos:exactMatch UMLS:C1420882 Unspecified TPT1 +OMIM:600763 skos:exactMatch HGNC_symbol:TPT1 Unspecified TPT1 +OMIM:600763 skos:exactMatch HGNC:12022 Unspecified TPT1 +OMIM:609118 skos:exactMatch UMLS:C1418402 Unspecified PDCD10 +OMIM:609118 skos:exactMatch HGNC_symbol:PDCD10 Unspecified PDCD10 +OMIM:609118 skos:exactMatch HGNC:8761 Unspecified PDCD10 +OMIM:600762 skos:exactMatch UMLS:C1415711 Unspecified human papillomavirus e5 central sequence-like 1 +OMIM:600761 skos:exactMatch UMLS:C1449843 Unspecified SCNN1G +OMIM:600761 skos:exactMatch UMLS:C1419871 Unspecified SCNN1G +OMIM:600761 skos:exactMatch HGNC_symbol:SCNN1G Unspecified SCNN1G +OMIM:600761 skos:exactMatch HGNC:10602 Unspecified SCNN1G +OMIM:600761 skos:exactMatch UMLS:C4748251 Unspecified SCNN1G +OMIM:600761 skos:exactMatch UMLS:C2751324 Unspecified SCNN1G +OMIM:609117 skos:exactMatch HGNC_symbol:FBXO46 Unspecified FBXO46 +OMIM:609117 skos:exactMatch HGNC:25069 Unspecified FBXO46 +OMIM:609117 skos:exactMatch UMLS:C1539500 Unspecified FBXO46 +OMIM:600760 skos:exactMatch UMLS:C1449843 Unspecified SCNN1B +OMIM:600760 skos:exactMatch HGNC_symbol:SCNN1B Unspecified SCNN1B +OMIM:600760 skos:exactMatch UMLS:C1419869 Unspecified SCNN1B +OMIM:600760 skos:exactMatch UMLS:C2749757 Unspecified SCNN1B +OMIM:600760 skos:exactMatch UMLS:C0221043 Unspecified SCNN1B +OMIM:600760 skos:exactMatch HGNC:10600 Unspecified SCNN1B +OMIM:609116 skos:exactMatch UMLS:C1836764 Unspecified respiratory rhythmicity 1n sleep +OMIM:600781 skos:exactMatch UMLS:C1419178 Unspecified PYY +OMIM:600781 skos:exactMatch HGNC_symbol:PYY Unspecified PYY +OMIM:600781 skos:exactMatch HGNC:9748 Unspecified PYY +OMIM:612749 skos:exactMatch HGNC_symbol:SPACA3 Unspecified SPACA3 +OMIM:612749 skos:exactMatch HGNC:16260 Unspecified SPACA3 +OMIM:612749 skos:exactMatch UMLS:C1424133 Unspecified SPACA3 +OMIM:612747 skos:exactMatch HGNC:17165 Unspecified TFIP11 +OMIM:612747 skos:exactMatch UMLS:C1424789 Unspecified TFIP11 +OMIM:612747 skos:exactMatch HGNC_symbol:TFIP11 Unspecified TFIP11 +OMIM:612748 skos:exactMatch UMLS:C1537632 Unspecified LYZL2 +OMIM:612748 skos:exactMatch HGNC:29613 Unspecified LYZL2 +OMIM:612748 skos:exactMatch HGNC_symbol:LYZL2 Unspecified LYZL2 +OMIM:612745 skos:exactMatch UMLS:C1537814 Unspecified MIR181B2 +OMIM:612745 skos:exactMatch HGNC:31551 Unspecified MIR181B2 +OMIM:612745 skos:exactMatch HGNC_symbol:MIR181B2 Unspecified MIR181B2 +OMIM:612746 skos:exactMatch UMLS:C1537815 Unspecified MIR181C +OMIM:612746 skos:exactMatch HGNC:31552 Unspecified MIR181C +OMIM:612746 skos:exactMatch HGNC_symbol:MIR181C Unspecified MIR181C +OMIM:612743 skos:exactMatch HGNC:31549 Unspecified MIR181A2 +OMIM:612743 skos:exactMatch HGNC_symbol:MIR181A2 Unspecified MIR181A2 +OMIM:612743 skos:exactMatch UMLS:C1826005 Unspecified MIR181A2 +OMIM:612744 skos:exactMatch UMLS:C1537813 Unspecified MIR181B1 +OMIM:612744 skos:exactMatch HGNC:31550 Unspecified MIR181B1 +OMIM:612744 skos:exactMatch HGNC_symbol:MIR181B1 Unspecified MIR181B1 +OMIM:612741 skos:exactMatch UMLS:C1425507 Unspecified SNAI3 +OMIM:612741 skos:exactMatch HGNC:18411 Unspecified SNAI3 +OMIM:612741 skos:exactMatch HGNC_symbol:SNAI3 Unspecified SNAI3 +OMIM:612742 skos:exactMatch HGNC:31590 Unspecified MIR181A1 +OMIM:612742 skos:exactMatch HGNC_symbol:MIR181A1 Unspecified MIR181A1 +OMIM:612742 skos:exactMatch UMLS:C1826004 Unspecified MIR181A1 +OMIM:612740 skos:exactMatch UMLS:C0268328 Unspecified porphyria, acute hepatic +OMIM:612740 skos:exactMatch UMLS:C2748608 Unspecified porphyria, acute hepatic +OMIM:609100 skos:exactMatch HGNC:29046 Unspecified FBXO28 +OMIM:609100 skos:exactMatch HGNC_symbol:FBXO28 Unspecified FBXO28 +OMIM:609100 skos:exactMatch UMLS:C1539491 Unspecified FBXO28 +OMIM:609104 skos:exactMatch HGNC:20201 Unspecified FBXO34 +OMIM:609104 skos:exactMatch HGNC_symbol:FBXO34 Unspecified FBXO34 +OMIM:609104 skos:exactMatch UMLS:C1426770 Unspecified FBXO34 +OMIM:600778 skos:exactMatch HGNC_symbol:CDKN1B Unspecified CDKN1B +OMIM:600778 skos:exactMatch HGNC:1785 Unspecified CDKN1B +OMIM:600778 skos:exactMatch UMLS:C1332737 Unspecified CDKN1B +OMIM:609103 skos:exactMatch HGNC:19833 Unspecified FBXO33 +OMIM:609103 skos:exactMatch HGNC_symbol:FBXO33 Unspecified FBXO33 +OMIM:609103 skos:exactMatch UMLS:C1426460 Unspecified FBXO33 +OMIM:600777 skos:exactMatch HGNC_symbol:TTF1 Unspecified TTF1 +OMIM:600777 skos:exactMatch HGNC:12397 Unspecified TTF1 +OMIM:600777 skos:exactMatch UMLS:C1421218 Unspecified TTF1 +OMIM:600776 skos:exactMatch UMLS:C1833339 Unspecified fryns microphthalmia syndrome +OMIM:609102 skos:exactMatch HGNC_symbol:FBXO31 Unspecified FBXO31 +OMIM:609102 skos:exactMatch HGNC:16510 Unspecified FBXO31 +OMIM:609102 skos:exactMatch UMLS:C1424342 Unspecified FBXO31 +OMIM:609101 skos:exactMatch HGNC_symbol:FBXO30 Unspecified FBXO30 +OMIM:609101 skos:exactMatch HGNC:15600 Unspecified FBXO30 +OMIM:609101 skos:exactMatch UMLS:C1423608 Unspecified FBXO30 +OMIM:600775 skos:exactMatch UMLS:C3806917 Unspecified craniosynostosis 4 +OMIM:600774 skos:exactMatch UMLS:C1336563 Unspecified TAF13 +OMIM:600774 skos:exactMatch HGNC:11546 Unspecified TAF13 +OMIM:600774 skos:exactMatch HGNC_symbol:TAF13 Unspecified TAF13 +OMIM:609108 skos:exactMatch UMLS:C1539495 Unspecified FBXO41 +OMIM:609108 skos:exactMatch HGNC:29409 Unspecified FBXO41 +OMIM:609108 skos:exactMatch HGNC_symbol:FBXO41 Unspecified FBXO41 +OMIM:600773 skos:exactMatch UMLS:C1336562 Unspecified TAF12 +OMIM:600773 skos:exactMatch HGNC:11545 Unspecified TAF12 +OMIM:600773 skos:exactMatch HGNC_symbol:TAF12 Unspecified TAF12 +OMIM:609107 skos:exactMatch UMLS:C1539494 Unspecified FBXO40 +OMIM:609107 skos:exactMatch HGNC:29816 Unspecified FBXO40 +OMIM:609107 skos:exactMatch HGNC_symbol:FBXO40 Unspecified FBXO40 +OMIM:609106 skos:exactMatch UMLS:C1539493 Unspecified FBXO39 +OMIM:609106 skos:exactMatch HGNC_symbol:FBXO39 Unspecified FBXO39 +OMIM:609106 skos:exactMatch HGNC:28565 Unspecified FBXO39 +OMIM:600772 skos:exactMatch HGNC:11544 Unspecified TAF11 +OMIM:600772 skos:exactMatch HGNC_symbol:TAF11 Unspecified TAF11 +OMIM:600772 skos:exactMatch UMLS:C1336561 Unspecified TAF11 +OMIM:609105 skos:exactMatch UMLS:C1428640 Unspecified FBXO36 +OMIM:609105 skos:exactMatch HGNC_symbol:FBXO36 Unspecified FBXO36 +OMIM:609105 skos:exactMatch HGNC:27020 Unspecified FBXO36 +OMIM:600771 skos:exactMatch UMLS:C1833341 Unspecified dwarfism, familial, with muscle spasms +OMIM:612738 skos:exactMatch HGNC_symbol:SLC9C1 Unspecified SLC9A10 +OMIM:612738 skos:exactMatch HGNC:31401 Unspecified SLC9A10 +OMIM:612738 skos:exactMatch UMLS:C1539778 Unspecified SLC9A10 +OMIM:612739 skos:exactMatch HGNC_symbol:SPACA1 Unspecified SPACA1 +OMIM:612739 skos:exactMatch HGNC:14967 Unspecified SPACA1 +OMIM:612739 skos:exactMatch UMLS:C1423094 Unspecified SPACA1 +OMIM:612736 skos:exactMatch UMLS:C0574080 Unspecified cerebral creatine deficiency syndrome 2 +OMIM:612736 skos:exactMatch ORPHA:382 Unspecified cerebral creatine deficiency syndrome 2 +OMIM:612737 skos:exactMatch UMLS:C2674783 Unspecified stature quantitative trait locus 17 +OMIM:612734 skos:exactMatch HGNC_symbol:TLX1NB Unspecified TLX1NB +OMIM:612734 skos:exactMatch UMLS:C2674784 Unspecified TLX1NB +OMIM:612734 skos:exactMatch HGNC:37183 Unspecified TLX1NB +OMIM:612735 skos:exactMatch HGNC_symbol:HLA-DRB3 Unspecified HLA-DRB3 +OMIM:612735 skos:exactMatch HGNC:4951 Unspecified HLA-DRB3 +OMIM:612735 skos:exactMatch UMLS:C1415578 Unspecified HLA-DRB3 +OMIM:612732 skos:exactMatch HGNC:2321 Unspecified CPOX +OMIM:612732 skos:exactMatch UMLS:C0342856 Unspecified CPOX +OMIM:612732 skos:exactMatch UMLS:C0342859 Unspecified CPOX +OMIM:612732 skos:exactMatch UMLS:C1413681 Unspecified CPOX +OMIM:612732 skos:exactMatch UMLS:C4017281 Unspecified CPOX +OMIM:612732 skos:exactMatch HGNC_symbol:CPOX Unspecified CPOX +OMIM:612733 skos:exactMatch HGNC_symbol:THOC5 Unspecified THOC5 +OMIM:612733 skos:exactMatch UMLS:C1425991 Unspecified THOC5 +OMIM:612733 skos:exactMatch HGNC:19074 Unspecified THOC5 +OMIM:612730 skos:exactMatch UMLS:C1427100 Unspecified SLC9A8 +OMIM:612730 skos:exactMatch HGNC_symbol:SLC9A8 Unspecified SLC9A8 +OMIM:612730 skos:exactMatch HGNC:20728 Unspecified SLC9A8 +OMIM:612731 skos:exactMatch UMLS:C2674798 Unspecified faciocardiomelic syndrome +OMIM:600749 skos:exactMatch UMLS:C1332750 Unspecified CEBPE +OMIM:600749 skos:exactMatch HGNC_symbol:CEBPE Unspecified CEBPE +OMIM:600749 skos:exactMatch HGNC:1836 Unspecified CEBPE +OMIM:600748 skos:exactMatch HGNC:11723 Unspecified TMBIM6 +OMIM:600748 skos:exactMatch UMLS:C1420686 Unspecified TMBIM6 +OMIM:600748 skos:exactMatch HGNC_symbol:TMBIM6 Unspecified TMBIM6 +OMIM:600747 skos:exactMatch HGNC:11597 Unspecified TBX2 +OMIM:600747 skos:exactMatch HGNC_symbol:TBX2 Unspecified TBX2 +OMIM:600747 skos:exactMatch UMLS:C1420608 Unspecified TBX2 +OMIM:600747 skos:exactMatch UMLS:C4748741 Unspecified TBX2 +OMIM:600746 skos:exactMatch HGNC_symbol:CDX1 Unspecified CDX1 +OMIM:600746 skos:exactMatch UMLS:C1413301 Unspecified CDX1 +OMIM:600746 skos:exactMatch HGNC:1805 Unspecified CDX1 +OMIM:600745 skos:exactMatch HGNC:611 Unspecified APOC4 +OMIM:600745 skos:exactMatch UMLS:C1412479 Unspecified APOC4 +OMIM:600745 skos:exactMatch HGNC_symbol:APOC4 Unspecified APOC4 +OMIM:600744 skos:exactMatch HGNC:11753 Unspecified TFEB +OMIM:600744 skos:exactMatch UMLS:C1420699 Unspecified TFEB +OMIM:600744 skos:exactMatch HGNC_symbol:TFEB Unspecified TFEB +OMIM:245480 skos:exactMatch UMLS:C4551556 Unspecified specific granule deficiency 1 +OMIM:600743 skos:exactMatch UMLS:C1420697 Unspecified TFAP4 +OMIM:600743 skos:exactMatch HGNC_symbol:TFAP4 Unspecified TFAP4 +OMIM:600743 skos:exactMatch HGNC:11745 Unspecified TFAP4 +OMIM:600742 skos:exactMatch HGNC_symbol:TGFBR3 Unspecified TGFBR3 +OMIM:600742 skos:exactMatch UMLS:C1336625 Unspecified TGFBR3 +OMIM:600742 skos:exactMatch HGNC:11774 Unspecified TGFBR3 +OMIM:600740 skos:exactMatch UMLS:C1833372 Unspecified hypocalciuric hypercalcemia, familial, iia 3 +OMIM:612729 skos:exactMatch UMLS:C2674799 Unspecified lean body mass quantitative trait locus 1 +OMIM:270420 skos:exactMatch UMLS:C0267663 Unspecified diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies +OMIM:612727 skos:exactMatch UMLS:C2674801 Unspecified bone mineral density quantitative trait locus 13 +OMIM:612728 skos:exactMatch UMLS:C2674800 Unspecified bone mineral density quantitative trait locus 14 +OMIM:612725 skos:exactMatch UMLS:C1418853 Unspecified PPP6C +OMIM:612725 skos:exactMatch HGNC_symbol:PPP6C Unspecified PPP6C +OMIM:612725 skos:exactMatch HGNC:9323 Unspecified PPP6C +OMIM:612726 skos:exactMatch UMLS:C0795969 Unspecified +OMIM:612723 skos:exactMatch UMLS:C1538676 Unspecified PLEKHH2 +OMIM:612723 skos:exactMatch HGNC:30506 Unspecified PLEKHH2 +OMIM:612723 skos:exactMatch HGNC_symbol:PLEKHH2 Unspecified PLEKHH2 +OMIM:612724 skos:exactMatch HGNC_symbol:ALDOB Unspecified ALDOB +OMIM:612724 skos:exactMatch HGNC:417 Unspecified ALDOB +OMIM:612724 skos:exactMatch UMLS:C1412347 Unspecified ALDOB +OMIM:612724 skos:exactMatch UMLS:C0016751 Unspecified ALDOB +OMIM:612721 skos:exactMatch HGNC:33762 Unspecified None +OMIM:612721 skos:exactMatch HGNC_symbol:RESP18 Unspecified None +OMIM:612721 skos:exactMatch UMLS:C2681920 Unspecified None +OMIM:612722 skos:exactMatch UMLS:C1427083 Unspecified ELP3 +OMIM:612722 skos:exactMatch HGNC_symbol:ELP3 Unspecified ELP3 +OMIM:612722 skos:exactMatch HGNC:20696 Unspecified ELP3 +OMIM:612720 skos:exactMatch HGNC:15815 Unspecified DHX29 +OMIM:612720 skos:exactMatch HGNC_symbol:DHX29 Unspecified DHX29 +OMIM:612720 skos:exactMatch UMLS:C1423751 Unspecified DHX29 +OMIM:600759 skos:exactMatch UMLS:C1418986 Unspecified PSEN2 +OMIM:600759 skos:exactMatch HGNC:9509 Unspecified PSEN2 +OMIM:600759 skos:exactMatch HGNC_symbol:PSEN2 Unspecified PSEN2 +OMIM:600758 skos:exactMatch HGNC_symbol:PTK2 Unspecified PTK2 +OMIM:600758 skos:exactMatch UMLS:C1366894 Unspecified PTK2 +OMIM:600758 skos:exactMatch HGNC:9611 Unspecified PTK2 +OMIM:600757 skos:exactMatch UMLS:C1833369 Unspecified orofacial cleft 3 +OMIM:600756 skos:exactMatch HGNC_symbol:PTPA Unspecified PPP2R4 +OMIM:600756 skos:exactMatch HGNC:9308 Unspecified PPP2R4 +OMIM:600756 skos:exactMatch UMLS:C1335244 Unspecified PPP2R4 +OMIM:600755 skos:exactMatch UMLS:C1420544 Unspecified SYN2 +OMIM:600755 skos:exactMatch HGNC:11495 Unspecified SYN2 +OMIM:600755 skos:exactMatch HGNC_symbol:SYN2 Unspecified SYN2 +OMIM:600754 skos:exactMatch HGNC:7160 Unspecified MMP14 +OMIM:600754 skos:exactMatch HGNC_symbol:MMP14 Unspecified MMP14 +OMIM:600754 skos:exactMatch UMLS:C1417203 Unspecified MMP14 +OMIM:600753 skos:exactMatch UMLS:C1415102 Unspecified GLG1 +OMIM:600753 skos:exactMatch HGNC:4316 Unspecified GLG1 +OMIM:600753 skos:exactMatch HGNC_symbol:GLG1 Unspecified GLG1 +OMIM:600752 skos:exactMatch UMLS:C1415208 Unspecified GPR12 +OMIM:600752 skos:exactMatch HGNC_symbol:GPR12 Unspecified GPR12 +OMIM:600752 skos:exactMatch HGNC:4466 Unspecified GPR12 +OMIM:600751 skos:exactMatch HGNC_symbol:SIGLEC1 Unspecified SIGLEC1 +OMIM:600751 skos:exactMatch HGNC:11127 Unspecified SIGLEC1 +OMIM:600751 skos:exactMatch UMLS:C1420266 Unspecified SIGLEC1 +OMIM:600750 skos:exactMatch HGNC:7953 Unspecified NPTX2 +OMIM:600750 skos:exactMatch HGNC_symbol:NPTX2 Unspecified NPTX2 +OMIM:600750 skos:exactMatch UMLS:C1417813 Unspecified NPTX2 +OMIM:270425 skos:exactMatch UMLS:C1849169 Unspecified sodium-potassium-atpase activity of red cell +OMIM:600693 skos:exactMatch HGNC:9583 Unspecified PTBP1 +OMIM:600693 skos:exactMatch HGNC_symbol:PTBP1 Unspecified PTBP1 +OMIM:600693 skos:exactMatch UMLS:C1419054 Unspecified PTBP1 +OMIM:600692 skos:exactMatch HGNC:11950 Unspecified TNNT3 +OMIM:600692 skos:exactMatch UMLS:C1420829 Unspecified TNNT3 +OMIM:600692 skos:exactMatch HGNC_symbol:TNNT3 Unspecified TNNT3 +OMIM:600691 skos:exactMatch UMLS:C1420163 Unspecified SLC27A1 +OMIM:600691 skos:exactMatch HGNC:10995 Unspecified SLC27A1 +OMIM:600691 skos:exactMatch HGNC_symbol:SLC27A1 Unspecified SLC27A1 +OMIM:600690 skos:exactMatch HGNC_symbol:TCTA Unspecified TCTA +OMIM:600690 skos:exactMatch UMLS:C1336599 Unspecified TCTA +OMIM:600690 skos:exactMatch HGNC:11692 Unspecified TCTA +OMIM:610019 skos:exactMatch UMLS:C1864908 Unspecified cataract 18 +OMIM:245450 skos:exactMatch UMLS:C5193006 Unspecified d-lactic aciduria with gout +OMIM:612679 skos:exactMatch UMLS:C1422349 Unspecified CELF4 +OMIM:612679 skos:exactMatch HGNC:14015 Unspecified CELF4 +OMIM:612679 skos:exactMatch HGNC_symbol:CELF4 Unspecified CELF4 +OMIM:610016 skos:exactMatch HGNC_symbol:MIR132 Unspecified MIR132 +OMIM:610016 skos:exactMatch UMLS:C1537781 Unspecified MIR132 +OMIM:610016 skos:exactMatch HGNC:31516 Unspecified MIR132 +OMIM:610015 skos:exactMatch UMLS:C1864910 Unspecified glutamine deficiency, congenital +OMIM:610018 skos:exactMatch UMLS:C1864909 Unspecified ARHGEF40 +OMIM:610018 skos:exactMatch HGNC_symbol:ARHGEF40 Unspecified ARHGEF40 +OMIM:610018 skos:exactMatch HGNC:25516 Unspecified ARHGEF40 +OMIM:612677 skos:exactMatch HGNC_symbol:PYHIN1 Unspecified PYHIN1 +OMIM:612677 skos:exactMatch UMLS:C1538760 Unspecified PYHIN1 +OMIM:612677 skos:exactMatch HGNC:28894 Unspecified PYHIN1 +OMIM:612678 skos:exactMatch HGNC:11967 Unspecified CELF3 +OMIM:612678 skos:exactMatch UMLS:C1420843 Unspecified CELF3 +OMIM:612678 skos:exactMatch HGNC_symbol:CELF3 Unspecified CELF3 +OMIM:610017 skos:exactMatch UMLS:C1832708 Unspecified multiple synostoses syndrome 2 +OMIM:610017 skos:exactMatch ORPHA:3237 Unspecified multiple synostoses syndrome 2 +OMIM:610012 skos:exactMatch HGNC:20391 Unspecified SULF1 +OMIM:610012 skos:exactMatch HGNC_symbol:SULF1 Unspecified SULF1 +OMIM:610012 skos:exactMatch UMLS:C1426908 Unspecified SULF1 +OMIM:612675 skos:exactMatch HGNC_symbol:SCARNA15 Unspecified SCARNA15 +OMIM:612675 skos:exactMatch HGNC:32572 Unspecified SCARNA15 +OMIM:612675 skos:exactMatch UMLS:C1822639 Unspecified SCARNA15 +OMIM:610011 skos:exactMatch HGNC_symbol:ARSK Unspecified ARSK +OMIM:610011 skos:exactMatch UMLS:C1825086 Unspecified ARSK +OMIM:610011 skos:exactMatch HGNC:25239 Unspecified ARSK +OMIM:612676 skos:exactMatch HGNC:9752 Unspecified QDPR +OMIM:612676 skos:exactMatch HGNC_symbol:QDPR Unspecified QDPR +OMIM:612676 skos:exactMatch UMLS:C1419182 Unspecified QDPR +OMIM:610014 skos:exactMatch HGNC:24128 Unspecified TM2D3 +OMIM:610014 skos:exactMatch HGNC_symbol:TM2D3 Unspecified TM2D3 +OMIM:610014 skos:exactMatch UMLS:C1864911 Unspecified TM2D3 +OMIM:612673 skos:exactMatch HGNC_symbol:RAB14 Unspecified RAB14 +OMIM:612673 skos:exactMatch HGNC:16524 Unspecified RAB14 +OMIM:612673 skos:exactMatch UMLS:C1424352 Unspecified RAB14 +OMIM:610013 skos:exactMatch HGNC:20392 Unspecified SULF2 +OMIM:610013 skos:exactMatch HGNC_symbol:SULF2 Unspecified SULF2 +OMIM:610013 skos:exactMatch UMLS:C1426909 Unspecified SULF2 +OMIM:612674 skos:exactMatch UMLS:C2675204 Unspecified polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract +OMIM:612674 skos:exactMatch ORPHA:171848 Unspecified polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract +OMIM:609030 skos:exactMatch UMLS:C1414028 Unspecified DGCR8 +OMIM:609030 skos:exactMatch HGNC:2847 Unspecified DGCR8 +OMIM:609030 skos:exactMatch HGNC_symbol:DGCR8 Unspecified DGCR8 +OMIM:612682 skos:exactMatch HGNC_symbol:DRAXIN Unspecified DRAXIN +OMIM:612682 skos:exactMatch UMLS:C1823801 Unspecified DRAXIN +OMIM:612682 skos:exactMatch HGNC:25054 Unspecified DRAXIN +OMIM:612683 skos:exactMatch UMLS:C1422549 Unspecified TEKT3 +OMIM:612683 skos:exactMatch HGNC:14293 Unspecified TEKT3 +OMIM:612683 skos:exactMatch HGNC_symbol:TEKT3 Unspecified TEKT3 +OMIM:610021 skos:exactMatch ORPHA:165991 Unspecified hyperinsulinemic hypoglycemia, familial, 7 +OMIM:610021 skos:exactMatch UMLS:C1864902 Unspecified hyperinsulinemic hypoglycemia, familial, 7 +OMIM:612680 skos:exactMatch HGNC:14058 Unspecified CELF5 +OMIM:612680 skos:exactMatch HGNC_symbol:CELF5 Unspecified CELF5 +OMIM:612680 skos:exactMatch UMLS:C2675196 Unspecified CELF5 +OMIM:612681 skos:exactMatch HGNC:14059 Unspecified CELF6 +OMIM:612681 skos:exactMatch HGNC_symbol:CELF6 Unspecified CELF6 +OMIM:612681 skos:exactMatch UMLS:C1422382 Unspecified CELF6 +OMIM:610020 skos:exactMatch UMLS:C1539931 Unspecified TBC1D10A +OMIM:610020 skos:exactMatch HGNC:23609 Unspecified TBC1D10A +OMIM:610020 skos:exactMatch HGNC_symbol:TBC1D10A Unspecified TBC1D10A +OMIM:609034 skos:exactMatch HGNC_symbol:HEYL Unspecified HEYL +OMIM:609034 skos:exactMatch HGNC:4882 Unspecified HEYL +OMIM:609034 skos:exactMatch UMLS:C1415526 Unspecified HEYL +OMIM:609033 skos:exactMatch UMLS:C1836916 Unspecified posterior column ataxia with retinitis pigmentosa +OMIM:609032 skos:exactMatch HGNC:19136 Unspecified FRG2 +OMIM:609032 skos:exactMatch HGNC_symbol:FRG2 Unspecified FRG2 +OMIM:609032 skos:exactMatch UMLS:C1836928 Unspecified FRG2 +OMIM:609031 skos:exactMatch HGNC:15932 Unspecified EPPIN +OMIM:609031 skos:exactMatch UMLS:C1423841 Unspecified EPPIN +OMIM:609031 skos:exactMatch HGNC_symbol:EPPIN Unspecified EPPIN +OMIM:609038 skos:exactMatch UMLS:C1425441 Unspecified RND1 +OMIM:609038 skos:exactMatch HGNC_symbol:RND1 Unspecified RND1 +OMIM:609038 skos:exactMatch HGNC:18314 Unspecified RND1 +OMIM:609037 skos:exactMatch UMLS:C1836915 Unspecified mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature +OMIM:600688 skos:exactMatch HGNC_symbol:CPA2 Unspecified CPA2 +OMIM:600688 skos:exactMatch HGNC:2297 Unspecified CPA2 +OMIM:600688 skos:exactMatch UMLS:C1413663 Unspecified CPA2 +OMIM:609036 skos:exactMatch HGNC_symbol:APBB1IP Unspecified APBB1IP +OMIM:609036 skos:exactMatch UMLS:C1424947 Unspecified APBB1IP +OMIM:609036 skos:exactMatch HGNC:17379 Unspecified APBB1IP +OMIM:609035 skos:exactMatch HGNC:14436 Unspecified RAPH1 +OMIM:609035 skos:exactMatch HGNC_symbol:RAPH1 Unspecified RAPH1 +OMIM:609035 skos:exactMatch UMLS:C1422646 Unspecified RAPH1 +OMIM:600687 skos:exactMatch HGNC_symbol:TIAM1 Unspecified TIAM1 +OMIM:600687 skos:exactMatch HGNC:11805 Unspecified TIAM1 +OMIM:600687 skos:exactMatch UMLS:C0812248 Unspecified TIAM1 +OMIM:600686 skos:exactMatch HGNC_symbol:KPNA1 Unspecified KPNA1 +OMIM:600686 skos:exactMatch HGNC:6394 Unspecified KPNA1 +OMIM:600686 skos:exactMatch UMLS:C1416699 Unspecified KPNA1 +OMIM:600685 skos:exactMatch HGNC_symbol:KPNA2 Unspecified KPNA2 +OMIM:600685 skos:exactMatch UMLS:C1416700 Unspecified KPNA2 +OMIM:600685 skos:exactMatch HGNC:6395 Unspecified KPNA2 +OMIM:600684 skos:exactMatch HGNC:6730 Unspecified LY9 +OMIM:600684 skos:exactMatch UMLS:C1416940 Unspecified LY9 +OMIM:600684 skos:exactMatch HGNC_symbol:LY9 Unspecified LY9 +OMIM:609039 skos:exactMatch UMLS:C1836907 Unspecified narcolepsy 3 +OMIM:304400 skos:exactMatch UMLS:C1844678 Unspecified deafness, X-linked 2 +OMIM:270400 skos:exactMatch UMLS:C0175694 Unspecified smith-lemli-opitz syndrome +OMIM:610009 skos:exactMatch HGNC:32521 Unspecified ARSI +OMIM:610009 skos:exactMatch HGNC_symbol:ARSI Unspecified ARSI +OMIM:610009 skos:exactMatch UMLS:C1825084 Unspecified ARSI +OMIM:610008 skos:exactMatch HGNC:24102 Unspecified ARSG +OMIM:610008 skos:exactMatch HGNC_symbol:ARSG Unspecified ARSG +OMIM:610008 skos:exactMatch UMLS:C1825082 Unspecified ARSG +OMIM:610005 skos:exactMatch HGNC_symbol:TNIK Unspecified TNIK +OMIM:610005 skos:exactMatch HGNC:30765 Unspecified TNIK +OMIM:610005 skos:exactMatch UMLS:C1428997 Unspecified TNIK +OMIM:612668 skos:exactMatch UMLS:C1425845 Unspecified TAS2R43 +OMIM:612668 skos:exactMatch HGNC:18875 Unspecified TAS2R43 +OMIM:612668 skos:exactMatch HGNC_symbol:TAS2R43 Unspecified TAS2R43 +OMIM:610004 skos:exactMatch UMLS:C1864922 Unspecified COL25A1 +OMIM:610004 skos:exactMatch HGNC_symbol:COL25A1 Unspecified COL25A1 +OMIM:610004 skos:exactMatch UMLS:C1425641 Unspecified COL25A1 +OMIM:610004 skos:exactMatch HGNC:18603 Unspecified COL25A1 +OMIM:612669 skos:exactMatch HGNC:19113 Unspecified TAS2R31 +OMIM:612669 skos:exactMatch UMLS:C1426019 Unspecified TAS2R31 +OMIM:612669 skos:exactMatch HGNC_symbol:TAS2R31 Unspecified TAS2R31 +OMIM:612666 skos:exactMatch UMLS:C1538843 Unspecified DSTYK +OMIM:612666 skos:exactMatch HGNC:29043 Unspecified DSTYK +OMIM:612666 skos:exactMatch HGNC_symbol:DSTYK Unspecified DSTYK +OMIM:610007 skos:exactMatch HGNC_symbol:LMBR1L Unspecified LMBR1L +OMIM:610007 skos:exactMatch HGNC:18268 Unspecified LMBR1L +OMIM:610007 skos:exactMatch UMLS:C1825863 Unspecified LMBR1L +OMIM:610006 skos:exactMatch UMLS:C1864912 Unspecified 2-methylbutyryl-coa dehydrogenase deficiency +OMIM:610006 skos:exactMatch ORPHA:79157 Unspecified 2-methylbutyryl-coa dehydrogenase deficiency +OMIM:612667 skos:exactMatch UMLS:C2239515 Unspecified HJURP +OMIM:612667 skos:exactMatch HGNC:25444 Unspecified HJURP +OMIM:612667 skos:exactMatch HGNC_symbol:HJURP Unspecified HJURP +OMIM:612664 skos:exactMatch UMLS:C1423882 Unspecified RERG +OMIM:612664 skos:exactMatch HGNC_symbol:RERG Unspecified RERG +OMIM:612664 skos:exactMatch HGNC:15980 Unspecified RERG +OMIM:610001 skos:exactMatch UMLS:C1864939 Unspecified arthrogryposis multiplex with deafness, inguinal hernias, and early death +OMIM:610000 skos:exactMatch HGNC_symbol:CEP55 Unspecified CEP55 +OMIM:610000 skos:exactMatch HGNC:1161 Unspecified CEP55 +OMIM:610000 skos:exactMatch UMLS:C1824709 Unspecified CEP55 +OMIM:612665 skos:exactMatch HGNC:30722 Unspecified TEX101 +OMIM:612665 skos:exactMatch HGNC_symbol:TEX101 Unspecified TEX101 +OMIM:612665 skos:exactMatch UMLS:C1539948 Unspecified TEX101 +OMIM:610003 skos:exactMatch UMLS:C1864923 Unspecified ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant +OMIM:610003 skos:exactMatch ORPHA:1947 Unspecified ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant +OMIM:612662 skos:exactMatch HGNC:25694 Unspecified TBC1D15 +OMIM:612662 skos:exactMatch UMLS:C1428511 Unspecified TBC1D15 +OMIM:612662 skos:exactMatch HGNC_symbol:TBC1D15 Unspecified TBC1D15 +OMIM:610002 skos:exactMatch UMLS:C1424695 Unspecified COL21A1 +OMIM:610002 skos:exactMatch HGNC:17025 Unspecified COL21A1 +OMIM:610002 skos:exactMatch HGNC_symbol:COL21A1 Unspecified COL21A1 +OMIM:612663 skos:exactMatch UMLS:C2675209 Unspecified TIFAB +OMIM:612663 skos:exactMatch HGNC:34024 Unspecified TIFAB +OMIM:612663 skos:exactMatch HGNC_symbol:TIFAB Unspecified TIFAB +OMIM:612671 skos:exactMatch UMLS:C2675207 Unspecified uric acid concentration, serum, quantitative trait locus 4 +OMIM:612672 skos:exactMatch HGNC_symbol:RAB10 Unspecified RAB10 +OMIM:612672 skos:exactMatch HGNC:9759 Unspecified RAB10 +OMIM:612672 skos:exactMatch UMLS:C1419188 Unspecified RAB10 +OMIM:610010 skos:exactMatch HGNC_symbol:ARSJ Unspecified ARSJ +OMIM:610010 skos:exactMatch UMLS:C1825085 Unspecified ARSJ +OMIM:610010 skos:exactMatch HGNC:26286 Unspecified ARSJ +OMIM:609023 skos:exactMatch UMLS:C4551506 Unspecified PNKD +OMIM:609023 skos:exactMatch UMLS:C1418706 Unspecified PNKD +OMIM:609023 skos:exactMatch HGNC_symbol:PNKD Unspecified PNKD +OMIM:609023 skos:exactMatch HGNC:9153 Unspecified PNKD +OMIM:609022 skos:exactMatch UMLS:C1836945 Unspecified RICTOR +OMIM:609022 skos:exactMatch HGNC:28611 Unspecified RICTOR +OMIM:609022 skos:exactMatch HGNC_symbol:RICTOR Unspecified RICTOR +OMIM:609021 skos:exactMatch UMLS:C1836946 Unspecified peripheral cone dystrophy +OMIM:609020 skos:exactMatch HGNC_symbol:FOLH1B Unspecified FOLH1B +OMIM:609020 skos:exactMatch HGNC:13636 Unspecified FOLH1B +OMIM:609020 skos:exactMatch UMLS:C1836956 Unspecified FOLH1B +OMIM:609027 skos:exactMatch UMLS:C1292298 Unspecified blood group, indian system +OMIM:609026 skos:exactMatch UMLS:C1836942 Unspecified cataract 28 +OMIM:609025 skos:exactMatch HGNC_symbol:KRT75 Unspecified KRT75 +OMIM:609025 skos:exactMatch HGNC:24431 Unspecified KRT75 +OMIM:609025 skos:exactMatch UMLS:C1825763 Unspecified KRT75 +OMIM:233450 skos:exactMatch UMLS:C0403529 Unspecified goodpasture syndrome +OMIM:609024 skos:exactMatch HGNC:6305 Unspecified KDELR2 +OMIM:609024 skos:exactMatch HGNC_symbol:KDELR2 Unspecified KDELR2 +OMIM:609024 skos:exactMatch UMLS:C5436875 Unspecified KDELR2 +OMIM:609024 skos:exactMatch UMLS:C1416623 Unspecified KDELR2 +OMIM:600698 skos:exactMatch UMLS:C1333906 Unspecified HMGA2 +OMIM:600698 skos:exactMatch HGNC_symbol:HMGA2 Unspecified HMGA2 +OMIM:600698 skos:exactMatch HGNC:5009 Unspecified HMGA2 +OMIM:600698 skos:exactMatch UMLS:C5394456 Unspecified HMGA2 +OMIM:600697 skos:exactMatch HGNC_symbol:RBBP5 Unspecified RBBP5 +OMIM:600697 skos:exactMatch HGNC:9888 Unspecified RBBP5 +OMIM:600697 skos:exactMatch UMLS:C1419290 Unspecified RBBP5 +OMIM:600696 skos:exactMatch HGNC:3149 Unspecified ECH1 +OMIM:600696 skos:exactMatch HGNC_symbol:ECH1 Unspecified ECH1 +OMIM:600696 skos:exactMatch UMLS:C1414246 Unspecified ECH1 +OMIM:609029 skos:exactMatch UMLS:C1836929 Unspecified emanuel syndrome +OMIM:600694 skos:exactMatch HGNC_symbol:IL6ST Unspecified IL6ST +OMIM:600694 skos:exactMatch UMLS:C1325331 Unspecified IL6ST +OMIM:600694 skos:exactMatch HGNC:6021 Unspecified IL6ST +OMIM:609028 skos:exactMatch HGNC_symbol:TIFA Unspecified TIFA +OMIM:609028 skos:exactMatch UMLS:C1836941 Unspecified TIFA +OMIM:609028 skos:exactMatch HGNC:19075 Unspecified TIFA +OMIM:269400 skos:exactMatch UMLS:C3151617 Unspecified anterior segment dysgenesis 7 +OMIM:600670 skos:exactMatch UMLS:C1833487 Unspecified varicella, severe recurrent +OMIM:612659 skos:exactMatch HGNC_symbol:RFX6 Unspecified RFX6 +OMIM:612659 skos:exactMatch HGNC:21478 Unspecified RFX6 +OMIM:612659 skos:exactMatch UMLS:C1427569 Unspecified RFX6 +OMIM:612657 skos:exactMatch UMLS:C2675210 Unspecified cone-rod dystrophy 12 +OMIM:612657 skos:exactMatch ORPHA:1872 Unspecified cone-rod dystrophy 12 +OMIM:612658 skos:exactMatch HGNC_symbol:TJAP1 Unspecified TJAP1 +OMIM:612658 skos:exactMatch UMLS:C1823283 Unspecified TJAP1 +OMIM:612658 skos:exactMatch HGNC:17949 Unspecified TJAP1 +OMIM:612655 skos:exactMatch HGNC:21066 Unspecified TBC1D7 +OMIM:612655 skos:exactMatch UMLS:C1427287 Unspecified TBC1D7 +OMIM:612655 skos:exactMatch HGNC_symbol:TBC1D7 Unspecified TBC1D7 +OMIM:612656 skos:exactMatch UMLS:C2675211 Unspecified episodic ataxia, iia 6 +OMIM:612653 skos:exactMatch UMLS:C2675212 Unspecified spherocytosis, iia 4 +OMIM:612654 skos:exactMatch HGNC_symbol:TCHP Unspecified TCHP +OMIM:612654 skos:exactMatch HGNC:28135 Unspecified TCHP +OMIM:612654 skos:exactMatch UMLS:C1823256 Unspecified TCHP +OMIM:612651 skos:exactMatch UMLS:C2675227 Unspecified endocrine-cerebroosteodysplasia +OMIM:612651 skos:exactMatch ORPHA:199332 Unspecified endocrine-cerebroosteodysplasia +OMIM:612660 skos:exactMatch HGNC:25777 Unspecified RFX7 +OMIM:612660 skos:exactMatch UMLS:C1826811 Unspecified RFX7 +OMIM:612660 skos:exactMatch HGNC_symbol:RFX7 Unspecified RFX7 +OMIM:612661 skos:exactMatch HGNC:25522 Unspecified WRAP53 +OMIM:612661 skos:exactMatch UMLS:C1823843 Unspecified WRAP53 +OMIM:612661 skos:exactMatch HGNC_symbol:WRAP53 Unspecified WRAP53 +OMIM:609012 skos:exactMatch HGNC:12757 Unspecified WDR5 +OMIM:609012 skos:exactMatch HGNC_symbol:WDR5 Unspecified WDR5 +OMIM:609012 skos:exactMatch UMLS:C1421496 Unspecified WDR5 +OMIM:609011 skos:exactMatch UMLS:C1823615 Unspecified VASH1 +OMIM:609011 skos:exactMatch HGNC_symbol:VASH1 Unspecified VASH1 +OMIM:609011 skos:exactMatch HGNC:19964 Unspecified VASH1 +OMIM:609010 skos:exactMatch HGNC_symbol:MCCC1 Unspecified MCCC1 +OMIM:609010 skos:exactMatch HGNC:6936 Unspecified MCCC1 +OMIM:609010 skos:exactMatch UMLS:C1417066 Unspecified MCCC1 +OMIM:600669 skos:exactMatch UMLS:C0270850 Unspecified epilepsy, idiopathic generalized +OMIM:600669 skos:exactMatch UMLS:C2748799 Unspecified epilepsy, idiopathic generalized +OMIM:600669 skos:exactMatch UMLS:C2748800 Unspecified epilepsy, idiopathic generalized +OMIM:609016 skos:exactMatch UMLS:C3711645 Unspecified long-chain 3-hydroxyacyl-coa dehydrogenase deficiency +OMIM:600668 skos:exactMatch UMLS:C1833499 Unspecified chondrocalcinosis 1 +OMIM:600668 skos:exactMatch ORPHA:1416 Unspecified chondrocalcinosis 1 +OMIM:600667 skos:exactMatch HGNC_symbol:FZD2 Unspecified FZD2 +OMIM:600667 skos:exactMatch UMLS:C1333584 Unspecified FZD2 +OMIM:600667 skos:exactMatch HGNC:4040 Unspecified FZD2 +OMIM:609015 skos:exactMatch UMLS:C1969443 Unspecified mitochondrial trifunctional protein deficiency +OMIM:609015 skos:exactMatch ORPHA:746 Unspecified mitochondrial trifunctional protein deficiency +OMIM:609014 skos:exactMatch HGNC_symbol:MCCC2 Unspecified MCCC2 +OMIM:609014 skos:exactMatch UMLS:C1417067 Unspecified MCCC2 +OMIM:609014 skos:exactMatch HGNC:6937 Unspecified MCCC2 +OMIM:600666 skos:exactMatch UMLS:C3887964 Unspecified polycystic kidney disease 3 with or without polycystic liver disease +OMIM:609013 skos:exactMatch HGNC_symbol:SLCO4C1 Unspecified SLCO4C1 +OMIM:609013 skos:exactMatch HGNC:23612 Unspecified SLCO4C1 +OMIM:609013 skos:exactMatch UMLS:C1428158 Unspecified SLCO4C1 +OMIM:600665 skos:exactMatch HGNC:7463 Unspecified MTNR1A +OMIM:600665 skos:exactMatch HGNC_symbol:MTNR1A Unspecified MTNR1A +OMIM:600665 skos:exactMatch UMLS:C1417449 Unspecified MTNR1A +OMIM:600664 skos:exactMatch UMLS:C3150891 Unspecified CHUK +OMIM:600664 skos:exactMatch HGNC_symbol:CHUK Unspecified CHUK +OMIM:600664 skos:exactMatch UMLS:C1413419 Unspecified CHUK +OMIM:600664 skos:exactMatch HGNC:1974 Unspecified CHUK +OMIM:609019 skos:exactMatch HGNC_symbol:BTD Unspecified BTD +OMIM:609019 skos:exactMatch HGNC:1122 Unspecified BTD +OMIM:609019 skos:exactMatch UMLS:C0220754 Unspecified BTD +OMIM:609019 skos:exactMatch UMLS:C1412833 Unspecified BTD +OMIM:600663 skos:exactMatch HGNC:6997 Unspecified MEF2D +OMIM:600663 skos:exactMatch UMLS:C1417103 Unspecified MEF2D +OMIM:600663 skos:exactMatch HGNC_symbol:MEF2D Unspecified MEF2D +OMIM:609018 skos:exactMatch UMLS:C1415593 Unspecified HLCS +OMIM:609018 skos:exactMatch HGNC_symbol:HLCS Unspecified HLCS +OMIM:609018 skos:exactMatch HGNC:4976 Unspecified HLCS +OMIM:600662 skos:exactMatch HGNC:6996 Unspecified MEF2C +OMIM:600662 skos:exactMatch UMLS:C1417102 Unspecified MEF2C +OMIM:600662 skos:exactMatch HGNC_symbol:MEF2C Unspecified MEF2C +OMIM:609017 skos:exactMatch HGNC:15743 Unspecified ERMAP +OMIM:609017 skos:exactMatch HGNC_symbol:ERMAP Unspecified ERMAP +OMIM:609017 skos:exactMatch UMLS:C1423697 Unspecified ERMAP +OMIM:600661 skos:exactMatch HGNC:6995 Unspecified MEF2B +OMIM:600661 skos:exactMatch UMLS:C1417101 Unspecified MEF2B +OMIM:600661 skos:exactMatch HGNC_symbol:MEF2B Unspecified MEF2B +OMIM:600682 skos:exactMatch UMLS:C4016683 Unspecified SLC16A1 +OMIM:600682 skos:exactMatch UMLS:C4016684 Unspecified SLC16A1 +OMIM:600682 skos:exactMatch HGNC_symbol:SLC16A1 Unspecified SLC16A1 +OMIM:600682 skos:exactMatch UMLS:C1855577 Unspecified SLC16A1 +OMIM:600682 skos:exactMatch UMLS:C1420102 Unspecified SLC16A1 +OMIM:600682 skos:exactMatch HGNC:10922 Unspecified SLC16A1 +OMIM:600682 skos:exactMatch UMLS:C1864902 Unspecified SLC16A1 +OMIM:600681 skos:exactMatch UMLS:C1416584 Unspecified KCNJ2 +OMIM:600681 skos:exactMatch HGNC_symbol:KCNJ2 Unspecified KCNJ2 +OMIM:600681 skos:exactMatch HGNC:6263 Unspecified KCNJ2 +OMIM:612648 skos:exactMatch HGNC_symbol:RSPH9 Unspecified RSPH9 +OMIM:612648 skos:exactMatch HGNC:21057 Unspecified RSPH9 +OMIM:612648 skos:exactMatch UMLS:C1427279 Unspecified RSPH9 +OMIM:612649 skos:exactMatch UMLS:C2675229 Unspecified ciliary dyskinesia, primary, 11 +OMIM:612646 skos:exactMatch HGNC:30215 Unspecified MACC1 +OMIM:612646 skos:exactMatch HGNC_symbol:MACC1 Unspecified MACC1 +OMIM:612646 skos:exactMatch UMLS:C2675234 Unspecified MACC1 +OMIM:612647 skos:exactMatch UMLS:C1427608 Unspecified RSPH4A +OMIM:612647 skos:exactMatch HGNC_symbol:RSPH4A Unspecified RSPH4A +OMIM:612647 skos:exactMatch HGNC:21558 Unspecified RSPH4A +OMIM:612644 skos:exactMatch UMLS:C2675236 Unspecified deafness, autosomal dominant 2b +OMIM:612645 skos:exactMatch UMLS:C2675235 Unspecified deafness, autosomal recessive 1b +OMIM:612642 skos:exactMatch UMLS:C2675238 Unspecified deafness, autosomal dominant 59 +OMIM:612643 skos:exactMatch UMLS:C2675237 Unspecified deafness, autosomal dominant 3b +OMIM:612640 skos:exactMatch HGNC_symbol:TBATA Unspecified TBATA +OMIM:612640 skos:exactMatch HGNC:23511 Unspecified TBATA +OMIM:612640 skos:exactMatch UMLS:C1428114 Unspecified TBATA +OMIM:612641 skos:exactMatch UMLS:C1412402 Unspecified ANK1 +OMIM:612641 skos:exactMatch UMLS:C4017278 Unspecified ANK1 +OMIM:612641 skos:exactMatch UMLS:C4017275 Unspecified ANK1 +OMIM:612641 skos:exactMatch UMLS:C4017274 Unspecified ANK1 +OMIM:612641 skos:exactMatch UMLS:C4017277 Unspecified ANK1 +OMIM:612641 skos:exactMatch UMLS:C4017276 Unspecified ANK1 +OMIM:612641 skos:exactMatch HGNC_symbol:ANK1 Unspecified ANK1 +OMIM:612641 skos:exactMatch HGNC:492 Unspecified ANK1 +OMIM:612650 skos:exactMatch UMLS:C2675228 Unspecified ciliary dyskinesia, primary, 12 +OMIM:609001 skos:exactMatch HGNC_symbol:PIK3C2G Unspecified PIK3C2G +OMIM:609001 skos:exactMatch HGNC:8973 Unspecified PIK3C2G +OMIM:609001 skos:exactMatch UMLS:C1418573 Unspecified PIK3C2G +OMIM:609000 skos:exactMatch UMLS:C1427285 Unspecified MOXD1 +OMIM:609000 skos:exactMatch HGNC_symbol:MOXD1 Unspecified MOXD1 +OMIM:609000 skos:exactMatch HGNC:21063 Unspecified MOXD1 +OMIM:600679 skos:exactMatch UMLS:C1833473 Unspecified dermoid cysts, familial frontonasal +OMIM:609005 skos:exactMatch HGNC:16661 Unspecified WDR17 +OMIM:609005 skos:exactMatch UMLS:C1424475 Unspecified WDR17 +OMIM:609005 skos:exactMatch HGNC_symbol:WDR17 Unspecified WDR17 +OMIM:600678 skos:exactMatch HGNC:7329 Unspecified MSH6 +OMIM:600678 skos:exactMatch HGNC_symbol:MSH6 Unspecified MSH6 +OMIM:600678 skos:exactMatch UMLS:C1833477 Unspecified MSH6 +OMIM:600678 skos:exactMatch UMLS:C0879393 Unspecified MSH6 +OMIM:600678 skos:exactMatch UMLS:C4015968 Unspecified MSH6 +OMIM:600678 skos:exactMatch UMLS:C5436807 Unspecified MSH6 +OMIM:609004 skos:exactMatch UMLS:C1428193 Unspecified BCL9L +OMIM:609004 skos:exactMatch HGNC_symbol:BCL9L Unspecified BCL9L +OMIM:609004 skos:exactMatch HGNC:23688 Unspecified BCL9L +OMIM:609003 skos:exactMatch HGNC:21689 Unspecified FIS1 +OMIM:609003 skos:exactMatch UMLS:C1825300 Unspecified FIS1 +OMIM:609003 skos:exactMatch HGNC_symbol:FIS1 Unspecified FIS1 +OMIM:600676 skos:exactMatch HGNC_symbol:CATR1 Unspecified CATR1 +OMIM:600676 skos:exactMatch HGNC:1525 Unspecified CATR1 +OMIM:600676 skos:exactMatch UMLS:C1413145 Unspecified CATR1 +OMIM:609002 skos:exactMatch HGNC:15534 Unspecified TEKT1 +OMIM:609002 skos:exactMatch HGNC_symbol:TEKT1 Unspecified TEKT1 +OMIM:609002 skos:exactMatch UMLS:C1423561 Unspecified TEKT1 +OMIM:600675 skos:exactMatch HGNC:12830 Unspecified XRCC3 +OMIM:600675 skos:exactMatch HGNC_symbol:XRCC3 Unspecified XRCC3 +OMIM:600675 skos:exactMatch UMLS:C1337032 Unspecified XRCC3 +OMIM:609009 skos:exactMatch HGNC_symbol:YWHAQ Unspecified YWHAQ +OMIM:609009 skos:exactMatch UMLS:C1421563 Unspecified YWHAQ +OMIM:609009 skos:exactMatch HGNC:12854 Unspecified YWHAQ +OMIM:600674 skos:exactMatch UMLS:C1833486 Unspecified microtia-anotia +OMIM:609008 skos:exactMatch UMLS:C1836994 Unspecified marfanoid habitus with situs inversus +OMIM:609007 skos:exactMatch HGNC:18618 Unspecified LRRK2 +OMIM:609007 skos:exactMatch UMLS:C4017179 Unspecified LRRK2 +OMIM:609007 skos:exactMatch UMLS:C1425650 Unspecified LRRK2 +OMIM:609007 skos:exactMatch UMLS:C1846862 Unspecified LRRK2 +OMIM:609007 skos:exactMatch HGNC_symbol:LRRK2 Unspecified LRRK2 +OMIM:600673 skos:exactMatch HGNC:12511 Unspecified UBTF +OMIM:600673 skos:exactMatch UMLS:C1421307 Unspecified UBTF +OMIM:600673 skos:exactMatch HGNC_symbol:UBTF Unspecified UBTF +OMIM:609006 skos:exactMatch UMLS:C1837007 Unspecified deafness, autosomal recessive 36, with or without vestibular involvement +OMIM:609006 skos:exactMatch UMLS:C3149566 Unspecified deafness, autosomal recessive 36, with or without vestibular involvement +OMIM:610059 skos:exactMatch HGNC:14487 Unspecified MRPL33 +OMIM:610059 skos:exactMatch HGNC_symbol:MRPL33 Unspecified MRPL33 +OMIM:610059 skos:exactMatch UMLS:C1422693 Unspecified MRPL33 +OMIM:610056 skos:exactMatch UMLS:C1420340 Unspecified SPAG7 +OMIM:610056 skos:exactMatch HGNC_symbol:SPAG7 Unspecified SPAG7 +OMIM:610056 skos:exactMatch HGNC:11216 Unspecified SPAG7 +OMIM:609070 skos:exactMatch UMLS:C1836778 Unspecified hemoglobin, high altitude adaptation +OMIM:610055 skos:exactMatch UMLS:C1824539 Unspecified CC2D1A +OMIM:610055 skos:exactMatch HGNC:30237 Unspecified CC2D1A +OMIM:610055 skos:exactMatch HGNC_symbol:CC2D1A Unspecified CC2D1A +OMIM:610058 skos:exactMatch UMLS:C1420594 Unspecified TBCA +OMIM:610058 skos:exactMatch HGNC_symbol:TBCA Unspecified TBCA +OMIM:610058 skos:exactMatch HGNC:11579 Unspecified TBCA +OMIM:610057 skos:exactMatch UMLS:C1415273 Unspecified TECR +OMIM:610057 skos:exactMatch HGNC_symbol:TECR Unspecified TECR +OMIM:610057 skos:exactMatch HGNC:4551 Unspecified TECR +OMIM:610063 skos:exactMatch HGNC:2946 Unspecified DNAH17 +OMIM:610063 skos:exactMatch HGNC_symbol:DNAH17 Unspecified DNAH17 +OMIM:610063 skos:exactMatch UMLS:C1414098 Unspecified DNAH17 +OMIM:609074 skos:exactMatch HGNC_symbol:FBXW9 Unspecified FBXW9 +OMIM:609074 skos:exactMatch HGNC:28136 Unspecified FBXW9 +OMIM:609074 skos:exactMatch UMLS:C1539502 Unspecified FBXW9 +OMIM:610062 skos:exactMatch UMLS:C1824951 Unspecified DNAL1 +OMIM:610062 skos:exactMatch HGNC_symbol:DNAL1 Unspecified DNAL1 +OMIM:610062 skos:exactMatch HGNC:23247 Unspecified DNAL1 +OMIM:609073 skos:exactMatch HGNC_symbol:FBXW8 Unspecified FBXW8 +OMIM:609073 skos:exactMatch HGNC:13597 Unspecified FBXW8 +OMIM:609073 skos:exactMatch UMLS:C1422091 Unspecified FBXW8 +OMIM:610065 skos:exactMatch UMLS:C1864732 Unspecified systemic lupus erythematosus, susceptibility to, 7 +OMIM:609072 skos:exactMatch HGNC_symbol:FBXW5 Unspecified FBXW5 +OMIM:609072 skos:exactMatch HGNC:13613 Unspecified FBXW5 +OMIM:609072 skos:exactMatch UMLS:C1422106 Unspecified FBXW5 +OMIM:610064 skos:exactMatch UMLS:C1864733 Unspecified opioid dependence, susceptibility to, 1 +OMIM:609071 skos:exactMatch HGNC_symbol:FBXW2 Unspecified FBXW2 +OMIM:609071 skos:exactMatch HGNC:13608 Unspecified FBXW2 +OMIM:609071 skos:exactMatch UMLS:C1422102 Unspecified FBXW2 +OMIM:609078 skos:exactMatch HGNC_symbol:KDM2B Unspecified KDM2B +OMIM:609078 skos:exactMatch HGNC:13610 Unspecified KDM2B +OMIM:609078 skos:exactMatch UMLS:C1422104 Unspecified KDM2B +OMIM:609077 skos:exactMatch HGNC_symbol:FBXL8 Unspecified FBXL8 +OMIM:609077 skos:exactMatch HGNC:17875 Unspecified FBXL8 +OMIM:609077 skos:exactMatch UMLS:C1425148 Unspecified FBXL8 +OMIM:609076 skos:exactMatch HGNC_symbol:FBXL6 Unspecified FBXL6 +OMIM:609076 skos:exactMatch HGNC:13603 Unspecified FBXL6 +OMIM:609076 skos:exactMatch UMLS:C1422097 Unspecified FBXL6 +OMIM:610061 skos:exactMatch HGNC_symbol:DNAH7 Unspecified DNAH7 +OMIM:610061 skos:exactMatch UMLS:C1425687 Unspecified DNAH7 +OMIM:610061 skos:exactMatch HGNC:18661 Unspecified DNAH7 +OMIM:610060 skos:exactMatch UMLS:C1426766 Unspecified POLR1C +OMIM:610060 skos:exactMatch HGNC_symbol:POLR1C Unspecified POLR1C +OMIM:610060 skos:exactMatch HGNC:20194 Unspecified POLR1C +OMIM:609075 skos:exactMatch HGNC:20729 Unspecified FBXW12 +OMIM:609075 skos:exactMatch HGNC_symbol:FBXW12 Unspecified FBXW12 +OMIM:609075 skos:exactMatch UMLS:C1539507 Unspecified FBXW12 +OMIM:609079 skos:exactMatch UMLS:C1422105 Unspecified FBXL12 +OMIM:609079 skos:exactMatch HGNC_symbol:FBXL12 Unspecified FBXL12 +OMIM:609079 skos:exactMatch HGNC:13611 Unspecified FBXL12 +OMIM:233420 skos:exactMatch ORPHA:242 Unspecified 46,xy sex reversal 7 +OMIM:233420 skos:exactMatch UMLS:C1856273 Unspecified 46,xy sex reversal 7 +OMIM:610049 skos:exactMatch HGNC_symbol:SARNP Unspecified SARNP +OMIM:610049 skos:exactMatch UMLS:C1864736 Unspecified SARNP +OMIM:610049 skos:exactMatch UMLS:C3274695 Unspecified SARNP +OMIM:610049 skos:exactMatch HGNC:24432 Unspecified SARNP +OMIM:610048 skos:exactMatch UMLS:C1864738 Unspecified corneal dystrophy, congenital stromal +OMIM:610045 skos:exactMatch HGNC:408 Unspecified ALDH5A1 +OMIM:610045 skos:exactMatch HGNC_symbol:ALDH5A1 Unspecified ALDH5A1 +OMIM:610045 skos:exactMatch UMLS:C1412339 Unspecified ALDH5A1 +OMIM:610045 skos:exactMatch UMLS:C0268631 Unspecified ALDH5A1 +OMIM:610044 skos:exactMatch HGNC:18866 Unspecified KCNT2 +OMIM:610044 skos:exactMatch HGNC_symbol:KCNT2 Unspecified KCNT2 +OMIM:610044 skos:exactMatch UMLS:C4540411 Unspecified KCNT2 +OMIM:610044 skos:exactMatch UMLS:C1425837 Unspecified KCNT2 +OMIM:610047 skos:exactMatch HGNC:28631 Unspecified CNPY4 +OMIM:610047 skos:exactMatch UMLS:C1864739 Unspecified CNPY4 +OMIM:610047 skos:exactMatch HGNC_symbol:CNPY4 Unspecified CNPY4 +OMIM:610046 skos:exactMatch UMLS:C1864740 Unspecified LVRN +OMIM:610046 skos:exactMatch HGNC:26904 Unspecified LVRN +OMIM:610046 skos:exactMatch HGNC_symbol:LVRN Unspecified LVRN +OMIM:610052 skos:exactMatch HGNC_symbol:CHMP3 Unspecified CHMP3 +OMIM:610052 skos:exactMatch UMLS:C1428904 Unspecified CHMP3 +OMIM:610052 skos:exactMatch HGNC:29865 Unspecified CHMP3 +OMIM:609063 skos:exactMatch HGNC_symbol:TXN2 Unspecified TXN2 +OMIM:609063 skos:exactMatch HGNC:17772 Unspecified TXN2 +OMIM:609063 skos:exactMatch UMLS:C1456398 Unspecified TXN2 +OMIM:610051 skos:exactMatch HGNC:20274 Unspecified CHMP4A +OMIM:610051 skos:exactMatch HGNC_symbol:CHMP4A Unspecified CHMP4A +OMIM:610051 skos:exactMatch UMLS:C1538457 Unspecified CHMP4A +OMIM:609062 skos:exactMatch HGNC:21694 Unspecified POU6F2 +OMIM:609062 skos:exactMatch UMLS:C1427701 Unspecified POU6F2 +OMIM:609062 skos:exactMatch HGNC_symbol:POU6F2 Unspecified POU6F2 +OMIM:610054 skos:exactMatch UMLS:C1415407 Unspecified H2AFY +OMIM:610054 skos:exactMatch HGNC_symbol:MACROH2A1 Unspecified H2AFY +OMIM:610054 skos:exactMatch HGNC:4740 Unspecified H2AFY +OMIM:609061 skos:exactMatch HGNC:18271 Unspecified ENAH +OMIM:609061 skos:exactMatch HGNC_symbol:ENAH Unspecified ENAH +OMIM:609061 skos:exactMatch UMLS:C1425409 Unspecified ENAH +OMIM:610053 skos:exactMatch UMLS:C1425332 Unspecified TUBGCP6 +OMIM:610053 skos:exactMatch HGNC:18127 Unspecified TUBGCP6 +OMIM:610053 skos:exactMatch HGNC_symbol:TUBGCP6 Unspecified TUBGCP6 +OMIM:609060 skos:exactMatch UMLS:C1836797 Unspecified combined oxidative phosphorylation deficiency 1 +OMIM:609060 skos:exactMatch ORPHA:137681 Unspecified combined oxidative phosphorylation deficiency 1 +OMIM:257400 skos:exactMatch UMLS:C3151571 Unspecified nystagmus, congenital, autosomal recessive +OMIM:609067 skos:exactMatch HGNC:32322 Unspecified SCX +OMIM:609067 skos:exactMatch UMLS:C1822656 Unspecified SCX +OMIM:609067 skos:exactMatch HGNC_symbol:SCX Unspecified SCX +OMIM:609066 skos:exactMatch HGNC:20250 Unspecified AJUBA +OMIM:609066 skos:exactMatch UMLS:C1426808 Unspecified AJUBA +OMIM:609066 skos:exactMatch HGNC_symbol:AJUBA Unspecified AJUBA +OMIM:610050 skos:exactMatch HGNC:29808 Unspecified TMPRSS13 +OMIM:610050 skos:exactMatch HGNC_symbol:TMPRSS13 Unspecified TMPRSS13 +OMIM:610050 skos:exactMatch UMLS:C1540030 Unspecified TMPRSS13 +OMIM:609064 skos:exactMatch HGNC_symbol:CNDP1 Unspecified CNDP1 +OMIM:609064 skos:exactMatch HGNC:20675 Unspecified CNDP1 +OMIM:609064 skos:exactMatch UMLS:C1539109 Unspecified CNDP1 +OMIM:609069 skos:exactMatch ORPHA:65288 Unspecified pancreatic and cerebellar agenesis +OMIM:609069 skos:exactMatch UMLS:C1836780 Unspecified pancreatic and cerebellar agenesis +OMIM:609068 skos:exactMatch UMLS:C1539218 Unspecified DAND5 +OMIM:609068 skos:exactMatch HGNC_symbol:DAND5 Unspecified DAND5 +OMIM:609068 skos:exactMatch HGNC:26780 Unspecified DAND5 +OMIM:610038 skos:exactMatch UMLS:C1823642 Unspecified VPS37C +OMIM:610038 skos:exactMatch HGNC:26097 Unspecified VPS37C +OMIM:610038 skos:exactMatch HGNC_symbol:VPS37C Unspecified VPS37C +OMIM:610037 skos:exactMatch HGNC:25754 Unspecified VPS37B +OMIM:610037 skos:exactMatch UMLS:C1823641 Unspecified VPS37B +OMIM:610037 skos:exactMatch HGNC_symbol:VPS37B Unspecified VPS37B +OMIM:612699 skos:exactMatch HGNC_symbol:RIMBP3 Unspecified RIMBP3 +OMIM:612699 skos:exactMatch HGNC:29344 Unspecified RIMBP3 +OMIM:612699 skos:exactMatch UMLS:C2239888 Unspecified RIMBP3 +OMIM:610039 skos:exactMatch HGNC:18287 Unspecified VPS37D +OMIM:610039 skos:exactMatch UMLS:C1425422 Unspecified VPS37D +OMIM:610039 skos:exactMatch HGNC_symbol:VPS37D Unspecified VPS37D +OMIM:610034 skos:exactMatch HGNC:18179 Unspecified VPS33A +OMIM:610034 skos:exactMatch UMLS:C1425364 Unspecified VPS33A +OMIM:610034 skos:exactMatch HGNC_symbol:VPS33A Unspecified VPS33A +OMIM:610034 skos:exactMatch UMLS:C4310627 Unspecified VPS33A +OMIM:612697 skos:exactMatch UMLS:C1421431 Unspecified VTRNA1-3 +OMIM:612697 skos:exactMatch HGNC_symbol:VTRNA1-3 Unspecified VTRNA1-3 +OMIM:612697 skos:exactMatch HGNC:12656 Unspecified VTRNA1-3 +OMIM:610033 skos:exactMatch HGNC:30009 Unspecified PEF1 +OMIM:610033 skos:exactMatch UMLS:C1864891 Unspecified PEF1 +OMIM:610033 skos:exactMatch HGNC_symbol:PEF1 Unspecified PEF1 +OMIM:612698 skos:exactMatch HGNC_symbol:MIR187 Unspecified MIR187 +OMIM:612698 skos:exactMatch UMLS:C1537821 Unspecified MIR187 +OMIM:612698 skos:exactMatch HGNC:31558 Unspecified MIR187 +OMIM:612695 skos:exactMatch UMLS:C1421429 Unspecified VTRNA1-1 +OMIM:612695 skos:exactMatch HGNC_symbol:VTRNA1-1 Unspecified VTRNA1-1 +OMIM:612695 skos:exactMatch HGNC:12654 Unspecified VTRNA1-1 +OMIM:610036 skos:exactMatch HGNC:2040 Unspecified CLDN19 +OMIM:610036 skos:exactMatch UMLS:C1413468 Unspecified CLDN19 +OMIM:610036 skos:exactMatch HGNC_symbol:CLDN19 Unspecified CLDN19 +OMIM:610035 skos:exactMatch HGNC_symbol:VPS45 Unspecified VPS45 +OMIM:610035 skos:exactMatch UMLS:C1823643 Unspecified VPS45 +OMIM:610035 skos:exactMatch HGNC:14579 Unspecified VPS45 +OMIM:612696 skos:exactMatch UMLS:C1421430 Unspecified VTRNA1-2 +OMIM:612696 skos:exactMatch HGNC_symbol:VTRNA1-2 Unspecified VTRNA1-2 +OMIM:612696 skos:exactMatch HGNC:12655 Unspecified VTRNA1-2 +OMIM:610041 skos:exactMatch HGNC:18537 Unspecified NDFIP2 +OMIM:610041 skos:exactMatch UMLS:C1425582 Unspecified NDFIP2 +OMIM:610041 skos:exactMatch HGNC_symbol:NDFIP2 Unspecified NDFIP2 +OMIM:609052 skos:exactMatch UMLS:C1836862 Unspecified spondylometaphyseal dysplasia, iia a4 +OMIM:609051 skos:exactMatch HGNC:17057 Unspecified CARD8 +OMIM:609051 skos:exactMatch UMLS:C5436750 Unspecified CARD8 +OMIM:609051 skos:exactMatch HGNC_symbol:CARD8 Unspecified CARD8 +OMIM:609051 skos:exactMatch UMLS:C1424714 Unspecified CARD8 +OMIM:610040 skos:exactMatch HGNC_symbol:MYO3B Unspecified MYO3B +OMIM:610040 skos:exactMatch HGNC:15576 Unspecified MYO3B +OMIM:610040 skos:exactMatch UMLS:C1423588 Unspecified MYO3B +OMIM:609050 skos:exactMatch HGNC:23784 Unspecified MTA3 +OMIM:609050 skos:exactMatch UMLS:C1428257 Unspecified MTA3 +OMIM:609050 skos:exactMatch HGNC_symbol:MTA3 Unspecified MTA3 +OMIM:610043 skos:exactMatch HGNC:22990 Unspecified COL23A1 +OMIM:610043 skos:exactMatch UMLS:C1427841 Unspecified COL23A1 +OMIM:610043 skos:exactMatch HGNC_symbol:COL23A1 Unspecified COL23A1 +OMIM:610042 skos:exactMatch UMLS:C2750246 Unspecified pitt-hopkins-like syndrome 1 +OMIM:610042 skos:exactMatch UMLS:C4552043 Unspecified pitt-hopkins-like syndrome 1 +OMIM:609056 skos:exactMatch UMLS:C1836824 Unspecified salt and pepper developmental regression syndrome +OMIM:609056 skos:exactMatch ORPHA:370933 Unspecified salt and pepper developmental regression syndrome +OMIM:609055 skos:exactMatch UMLS:C1836841 Unspecified ceroid lipofuscinosis, neuronal, 9 +OMIM:609054 skos:exactMatch UMLS:C1836860 Unspecified fanconi anemia, complementation group j +OMIM:609053 skos:exactMatch UMLS:C1836861 Unspecified fanconi anemia, complementation group 1 +OMIM:609059 skos:exactMatch HGNC:30802 Unspecified PNPLA2 +OMIM:609059 skos:exactMatch HGNC_symbol:PNPLA2 Unspecified PNPLA2 +OMIM:609059 skos:exactMatch UMLS:C1538686 Unspecified PNPLA2 +OMIM:609058 skos:exactMatch HGNC:7526 Unspecified MMUT +OMIM:609058 skos:exactMatch UMLS:C1855115 Unspecified MMUT +OMIM:609058 skos:exactMatch UMLS:C1855116 Unspecified MMUT +OMIM:609058 skos:exactMatch UMLS:C1417504 Unspecified MMUT +OMIM:609058 skos:exactMatch HGNC_symbol:MMUT Unspecified MMUT +OMIM:609057 skos:exactMatch UMLS:C1836823 Unspecified epidermolysis bullosa simplex 7, with nephropathy and deafness +OMIM:245400 skos:exactMatch UMLS:C3151476 Unspecified mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria) +OMIM:610027 skos:exactMatch HGNC:28119 Unspecified VPS26B +OMIM:610027 skos:exactMatch UMLS:C1823639 Unspecified VPS26B +OMIM:610027 skos:exactMatch HGNC_symbol:VPS26B Unspecified VPS26B +OMIM:610026 skos:exactMatch HGNC:22989 Unspecified COL22A1 +OMIM:610026 skos:exactMatch UMLS:C1427840 Unspecified COL22A1 +OMIM:610026 skos:exactMatch HGNC_symbol:COL22A1 Unspecified COL22A1 +OMIM:612688 skos:exactMatch HGNC_symbol:RNF168 Unspecified RNF168 +OMIM:612688 skos:exactMatch UMLS:C1538866 Unspecified RNF168 +OMIM:612688 skos:exactMatch HGNC:26661 Unspecified RNF168 +OMIM:610029 skos:exactMatch HGNC:12674 Unspecified VDAC3 +OMIM:610029 skos:exactMatch HGNC_symbol:VDAC3 Unspecified VDAC3 +OMIM:610029 skos:exactMatch UMLS:C1336932 Unspecified VDAC3 +OMIM:610028 skos:exactMatch HGNC_symbol:PARP14 Unspecified PARP14 +OMIM:610028 skos:exactMatch UMLS:C1538589 Unspecified PARP14 +OMIM:610028 skos:exactMatch HGNC:29232 Unspecified PARP14 +OMIM:612689 skos:exactMatch HGNC:11829 Unspecified TJP3 +OMIM:612689 skos:exactMatch UMLS:C1420746 Unspecified TJP3 +OMIM:612689 skos:exactMatch HGNC_symbol:TJP3 Unspecified TJP3 +OMIM:612686 skos:exactMatch UMLS:C1538670 Unspecified PLEKHA7 +OMIM:612686 skos:exactMatch HGNC:27049 Unspecified PLEKHA7 +OMIM:612686 skos:exactMatch HGNC_symbol:PLEKHA7 Unspecified PLEKHA7 +OMIM:610023 skos:exactMatch UMLS:C1864901 Unspecified brachydactyly, coloboma, and anterior segment dysgenesis +OMIM:610022 skos:exactMatch UMLS:C1417567 Unspecified MYO5C +OMIM:610022 skos:exactMatch HGNC_symbol:MYO5C Unspecified MYO5C +OMIM:610022 skos:exactMatch HGNC:7604 Unspecified MYO5C +OMIM:612687 skos:exactMatch UMLS:C1428631 Unspecified RGMB +OMIM:612687 skos:exactMatch HGNC_symbol:RGMB Unspecified RGMB +OMIM:612687 skos:exactMatch HGNC:26896 Unspecified RGMB +OMIM:610025 skos:exactMatch UMLS:C1427151 Unspecified COL24A1 +OMIM:610025 skos:exactMatch HGNC:20821 Unspecified COL24A1 +OMIM:610025 skos:exactMatch HGNC_symbol:COL24A1 Unspecified COL24A1 +OMIM:612684 skos:exactMatch HGNC_symbol:ISM2 Unspecified ISM2 +OMIM:612684 skos:exactMatch UMLS:C1427968 Unspecified ISM2 +OMIM:612684 skos:exactMatch HGNC:23176 Unspecified ISM2 +OMIM:610024 skos:exactMatch UMLS:C3552227 Unspecified retinal cone dystrophy 3a +OMIM:610024 skos:exactMatch UMLS:C1864900 Unspecified retinal cone dystrophy 3a +OMIM:612685 skos:exactMatch HGNC_symbol:CAMSAP3 Unspecified CAMSAP3 +OMIM:612685 skos:exactMatch HGNC:29307 Unspecified CAMSAP3 +OMIM:612685 skos:exactMatch UMLS:C1428832 Unspecified CAMSAP3 +OMIM:610030 skos:exactMatch UMLS:C1421443 Unspecified VDAC4 +OMIM:610030 skos:exactMatch HGNC_symbol:VDAC1P4 Unspecified VDAC4 +OMIM:610030 skos:exactMatch HGNC:12675 Unspecified VDAC4 +OMIM:609041 skos:exactMatch UMLS:C1836899 Unspecified spastic paraplegia 27, autosomal recessive +OMIM:612693 skos:exactMatch HGNC:28378 Unspecified URM1 +OMIM:612693 skos:exactMatch UMLS:C1823603 Unspecified URM1 +OMIM:612693 skos:exactMatch HGNC_symbol:URM1 Unspecified URM1 +OMIM:609040 skos:exactMatch UMLS:C1836906 Unspecified arrhythmogenic right ventricular dysplasia, familial, 9 +OMIM:609040 skos:exactMatch ORPHA:217656 Unspecified arrhythmogenic right ventricular dysplasia, familial, 9 +OMIM:612694 skos:exactMatch UMLS:C1825847 Unspecified CTU1 +OMIM:612694 skos:exactMatch HGNC:29590 Unspecified CTU1 +OMIM:612694 skos:exactMatch HGNC_symbol:CTU1 Unspecified CTU1 +OMIM:610032 skos:exactMatch HGNC:17103 Unspecified TNPO3 +OMIM:610032 skos:exactMatch UMLS:C1424743 Unspecified TNPO3 +OMIM:610032 skos:exactMatch HGNC_symbol:TNPO3 Unspecified TNPO3 +OMIM:612691 skos:exactMatch UMLS:C4013648 Unspecified polymicrogyria, bilateral temporooccipital +OMIM:612692 skos:exactMatch UMLS:C3150207 Unspecified agammaglobulinemia 6, autosomal recessive +OMIM:610031 skos:exactMatch UMLS:C3552236 Unspecified cortical dysplasia, complex, with other brain malformations 7 +OMIM:609045 skos:exactMatch HGNC_symbol:GPR141 Unspecified GPR141 +OMIM:609045 skos:exactMatch HGNC:19997 Unspecified GPR141 +OMIM:609045 skos:exactMatch UMLS:C1426590 Unspecified GPR141 +OMIM:612690 skos:exactMatch UMLS:C2675192 Unspecified spherocytosis, iia 5 +OMIM:609044 skos:exactMatch UMLS:C1425984 Unspecified FFAR4 +OMIM:609044 skos:exactMatch HGNC:19061 Unspecified FFAR4 +OMIM:609044 skos:exactMatch HGNC_symbol:FFAR4 Unspecified FFAR4 +OMIM:609043 skos:exactMatch HGNC_symbol:RXFP4 Unspecified RXFP4 +OMIM:609043 skos:exactMatch UMLS:C1826959 Unspecified RXFP4 +OMIM:609043 skos:exactMatch HGNC:14666 Unspecified RXFP4 +OMIM:609042 skos:exactMatch HGNC:19992 Unspecified OPN5 +OMIM:609042 skos:exactMatch HGNC_symbol:OPN5 Unspecified OPN5 +OMIM:609042 skos:exactMatch UMLS:C1426589 Unspecified OPN5 +OMIM:609049 skos:exactMatch ORPHA:2670 Unspecified pierson syndrome +OMIM:609049 skos:exactMatch UMLS:C1836876 Unspecified pierson syndrome +OMIM:609048 skos:exactMatch UMLS:C1836892 Unspecified melanoma, cutaneous malignant, susceptibility to, 3 +OMIM:609047 skos:exactMatch UMLS:C1836898 Unspecified skeletal dysplasia, rhizomelic, with retinitis pigmentosa +OMIM:609046 skos:exactMatch HGNC_symbol:GPR142 Unspecified GPR142 +OMIM:609046 skos:exactMatch HGNC:20088 Unspecified GPR142 +OMIM:609046 skos:exactMatch UMLS:C1426674 Unspecified GPR142 +OMIM:233430 skos:exactMatch UMLS:C1856272 Unspecified gonadal dysgenesis, 10y type, with associated anomalies +OMIM:221400 skos:exactMatch UMLS:C1857338 Unspecified deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy +OMIM:610099 skos:exactMatch UMLS:C1864706 Unspecified myopathy, distal, 3 +OMIM:610099 skos:exactMatch ORPHA:399086 Unspecified myopathy, distal, 3 +OMIM:610089 skos:exactMatch HGNC_symbol:RINT1 Unspecified RINT1 +OMIM:610089 skos:exactMatch UMLS:C1826831 Unspecified RINT1 +OMIM:610089 skos:exactMatch HGNC:21876 Unspecified RINT1 +OMIM:610088 skos:exactMatch UMLS:C1538536 Unspecified OLFML3 +OMIM:610088 skos:exactMatch HGNC:24956 Unspecified OLFML3 +OMIM:610088 skos:exactMatch HGNC_symbol:OLFML3 Unspecified OLFML3 +OMIM:610096 skos:exactMatch HGNC:25132 Unspecified TIMD4 +OMIM:610096 skos:exactMatch UMLS:C1539967 Unspecified TIMD4 +OMIM:610096 skos:exactMatch HGNC_symbol:TIMD4 Unspecified TIMD4 +OMIM:610095 skos:exactMatch UMLS:C1424177 Unspecified KIR3DL3 +OMIM:610095 skos:exactMatch HGNC_symbol:KIR3DL3 Unspecified KIR3DL3 +OMIM:610095 skos:exactMatch HGNC:16312 Unspecified KIR3DL3 +OMIM:610098 skos:exactMatch HGNC_symbol:MCM9 Unspecified MCM9 +OMIM:610098 skos:exactMatch HGNC:21484 Unspecified MCM9 +OMIM:610098 skos:exactMatch UMLS:C1427573 Unspecified MCM9 +OMIM:610097 skos:exactMatch UMLS:C1425981 Unspecified ODF4 +OMIM:610097 skos:exactMatch HGNC_symbol:ODF4 Unspecified ODF4 +OMIM:610097 skos:exactMatch HGNC:19056 Unspecified ODF4 +OMIM:610092 skos:exactMatch UMLS:C1864722 Unspecified microphthalmia, isolated, with coloboma 3 +OMIM:610092 skos:exactMatch UMLS:C1864721 Unspecified microphthalmia, isolated, with coloboma 3 +OMIM:610091 skos:exactMatch HGNC:19221 Unspecified WSB1 +OMIM:610091 skos:exactMatch HGNC_symbol:WSB1 Unspecified WSB1 +OMIM:610091 skos:exactMatch UMLS:C1426096 Unspecified WSB1 +OMIM:610094 skos:exactMatch UMLS:C1413972 Unspecified DEF6 +OMIM:610094 skos:exactMatch HGNC_symbol:DEF6 Unspecified DEF6 +OMIM:610094 skos:exactMatch HGNC:2760 Unspecified DEF6 +OMIM:610093 skos:exactMatch UMLS:C1864720 Unspecified microphthalmia, isolated 2 +OMIM:610090 skos:exactMatch UMLS:C1864723 Unspecified pyridoxamine 5-prime-phosphate oxidase deficiency +OMIM:137600 skos:exactMatch UMLS:C1842031 Unspecified anterior segment dysgenesis 4 +OMIM:609092 skos:exactMatch HGNC_symbol:FBXO10 Unspecified FBXO10 +OMIM:609092 skos:exactMatch HGNC:13589 Unspecified FBXO10 +OMIM:609092 skos:exactMatch UMLS:C1422084 Unspecified FBXO10 +OMIM:610078 skos:exactMatch HGNC_symbol:MORC3 Unspecified MORC3 +OMIM:610078 skos:exactMatch UMLS:C1826267 Unspecified MORC3 +OMIM:610078 skos:exactMatch HGNC:23572 Unspecified MORC3 +OMIM:610077 skos:exactMatch HGNC:20369 Unspecified RGCC +OMIM:610077 skos:exactMatch HGNC_symbol:RGCC Unspecified RGCC +OMIM:610077 skos:exactMatch UMLS:C1539026 Unspecified RGCC +OMIM:609091 skos:exactMatch HGNC:13588 Unspecified FBXO9 +OMIM:609091 skos:exactMatch UMLS:C1422083 Unspecified FBXO9 +OMIM:609091 skos:exactMatch HGNC_symbol:FBXO9 Unspecified FBXO9 +OMIM:609090 skos:exactMatch HGNC:13583 Unspecified FBXO4 +OMIM:609090 skos:exactMatch UMLS:C1422078 Unspecified FBXO4 +OMIM:609090 skos:exactMatch HGNC_symbol:FBXO4 Unspecified FBXO4 +OMIM:610079 skos:exactMatch HGNC_symbol:SIAE Unspecified SIAE +OMIM:610079 skos:exactMatch UMLS:C1822723 Unspecified SIAE +OMIM:610079 skos:exactMatch HGNC:18187 Unspecified SIAE +OMIM:609096 skos:exactMatch HGNC_symbol:FBXO22 Unspecified FBXO22 +OMIM:609096 skos:exactMatch HGNC:13593 Unspecified FBXO22 +OMIM:609096 skos:exactMatch UMLS:C1422087 Unspecified FBXO22 +OMIM:610085 skos:exactMatch HGNC_symbol:FAM167A Unspecified FAM167A +OMIM:610085 skos:exactMatch UMLS:C1423570 Unspecified FAM167A +OMIM:610085 skos:exactMatch HGNC:15549 Unspecified FAM167A +OMIM:610084 skos:exactMatch HGNC_symbol:TENM4 Unspecified TENM4 +OMIM:610084 skos:exactMatch UMLS:C1538512 Unspecified TENM4 +OMIM:610084 skos:exactMatch HGNC:29945 Unspecified TENM4 +OMIM:609095 skos:exactMatch HGNC_symbol:FBXO21 Unspecified FBXO21 +OMIM:609095 skos:exactMatch HGNC:13592 Unspecified FBXO21 +OMIM:609095 skos:exactMatch UMLS:C1422086 Unspecified FBXO21 +OMIM:609094 skos:exactMatch HGNC_symbol:FBXO17 Unspecified FBXO17 +OMIM:609094 skos:exactMatch UMLS:C1539490 Unspecified FBXO17 +OMIM:609094 skos:exactMatch HGNC:18754 Unspecified FBXO17 +OMIM:610087 skos:exactMatch UMLS:C4310689 Unspecified PRMT7 +OMIM:610087 skos:exactMatch HGNC:25557 Unspecified PRMT7 +OMIM:610087 skos:exactMatch HGNC_symbol:PRMT7 Unspecified PRMT7 +OMIM:610087 skos:exactMatch UMLS:C1826702 Unspecified PRMT7 +OMIM:609093 skos:exactMatch HGNC_symbol:FBXO15 Unspecified FBXO15 +OMIM:609093 skos:exactMatch HGNC:13617 Unspecified FBXO15 +OMIM:609093 skos:exactMatch UMLS:C1422108 Unspecified FBXO15 +OMIM:610086 skos:exactMatch HGNC:5188 Unspecified PRMT8 +OMIM:610086 skos:exactMatch HGNC_symbol:PRMT8 Unspecified PRMT8 +OMIM:610086 skos:exactMatch UMLS:C1826703 Unspecified PRMT8 +OMIM:610081 skos:exactMatch HGNC:24127 Unspecified TM2D2 +OMIM:610081 skos:exactMatch HGNC_symbol:TM2D2 Unspecified TM2D2 +OMIM:610081 skos:exactMatch UMLS:C1864724 Unspecified TM2D2 +OMIM:610080 skos:exactMatch HGNC:24142 Unspecified TM2D1 +OMIM:610080 skos:exactMatch HGNC_symbol:TM2D1 Unspecified TM2D1 +OMIM:610080 skos:exactMatch UMLS:C1864725 Unspecified TM2D1 +OMIM:609099 skos:exactMatch HGNC:18753 Unspecified FBXO27 +OMIM:609099 skos:exactMatch HGNC_symbol:FBXO27 Unspecified FBXO27 +OMIM:609099 skos:exactMatch UMLS:C1425759 Unspecified FBXO27 +OMIM:610083 skos:exactMatch HGNC_symbol:TENM3 Unspecified TENM3 +OMIM:610083 skos:exactMatch UMLS:C1538511 Unspecified TENM3 +OMIM:610083 skos:exactMatch HGNC:29944 Unspecified TENM3 +OMIM:609098 skos:exactMatch HGNC_symbol:FBXO25 Unspecified FBXO25 +OMIM:609098 skos:exactMatch HGNC:13596 Unspecified FBXO25 +OMIM:609098 skos:exactMatch UMLS:C1422090 Unspecified FBXO25 +OMIM:610082 skos:exactMatch HGNC:21155 Unspecified MYLIP +OMIM:610082 skos:exactMatch HGNC_symbol:MYLIP Unspecified MYLIP +OMIM:610082 skos:exactMatch UMLS:C1427370 Unspecified MYLIP +OMIM:609097 skos:exactMatch HGNC_symbol:FBXO24 Unspecified FBXO24 +OMIM:609097 skos:exactMatch HGNC:13595 Unspecified FBXO24 +OMIM:609097 skos:exactMatch UMLS:C1422089 Unspecified FBXO24 +OMIM:233400 skos:exactMatch UMLS:C4551721 Unspecified perrault syndrome 1 +OMIM:610067 skos:exactMatch HGNC_symbol:MYO18A Unspecified MYO18A +OMIM:610067 skos:exactMatch UMLS:C3275261 Unspecified MYO18A +OMIM:610067 skos:exactMatch HGNC:31104 Unspecified MYO18A +OMIM:610067 skos:exactMatch UMLS:C1429078 Unspecified MYO18A +OMIM:609081 skos:exactMatch HGNC_symbol:FBXL14 Unspecified FBXL14 +OMIM:609081 skos:exactMatch UMLS:C1428723 Unspecified FBXL14 +OMIM:609081 skos:exactMatch HGNC:28624 Unspecified FBXL14 +OMIM:610066 skos:exactMatch UMLS:C1864731 Unspecified systemic lupus erythematosus, susceptibility to, 8 +OMIM:609080 skos:exactMatch HGNC:21658 Unspecified FBXL13 +OMIM:609080 skos:exactMatch HGNC_symbol:FBXL13 Unspecified FBXL13 +OMIM:609080 skos:exactMatch UMLS:C1539481 Unspecified FBXL13 +OMIM:610069 skos:exactMatch UMLS:C1864730 Unspecified polyposis syndrome, hereditary mixed, 2 +OMIM:610068 skos:exactMatch HGNC:14472 Unspecified None +OMIM:610068 skos:exactMatch HGNC_symbol:SLC26A6 Unspecified None +OMIM:610068 skos:exactMatch UMLS:C1422678 Unspecified None +OMIM:609085 skos:exactMatch HGNC_symbol:FBXL19 Unspecified FBXL19 +OMIM:609085 skos:exactMatch HGNC:25300 Unspecified FBXL19 +OMIM:609085 skos:exactMatch UMLS:C1539486 Unspecified FBXL19 +OMIM:610074 skos:exactMatch HGNC_symbol:ORMDL2 Unspecified ORMDL2 +OMIM:610074 skos:exactMatch UMLS:C1423929 Unspecified ORMDL2 +OMIM:610074 skos:exactMatch HGNC:16037 Unspecified ORMDL2 +OMIM:609084 skos:exactMatch HGNC_symbol:FBXL18 Unspecified FBXL18 +OMIM:609084 skos:exactMatch HGNC:21874 Unspecified FBXL18 +OMIM:609084 skos:exactMatch UMLS:C1539485 Unspecified FBXL18 +OMIM:610073 skos:exactMatch HGNC_symbol:ORMDL1 Unspecified ORMDL1 +OMIM:610073 skos:exactMatch UMLS:C1423928 Unspecified ORMDL1 +OMIM:610073 skos:exactMatch HGNC:16036 Unspecified ORMDL1 +OMIM:609083 skos:exactMatch HGNC_symbol:FBXL17 Unspecified FBXL17 +OMIM:609083 skos:exactMatch HGNC:13615 Unspecified FBXL17 +OMIM:609083 skos:exactMatch UMLS:C1539484 Unspecified FBXL17 +OMIM:610076 skos:exactMatch UMLS:C1539079 Unspecified CDK20 +OMIM:610076 skos:exactMatch HGNC_symbol:CDK20 Unspecified CDK20 +OMIM:610076 skos:exactMatch HGNC:21420 Unspecified CDK20 +OMIM:609082 skos:exactMatch HGNC_symbol:FBXL16 Unspecified FBXL16 +OMIM:609082 skos:exactMatch HGNC:14150 Unspecified FBXL16 +OMIM:609082 skos:exactMatch UMLS:C1539483 Unspecified FBXL16 +OMIM:610075 skos:exactMatch HGNC_symbol:ORMDL3 Unspecified ORMDL3 +OMIM:610075 skos:exactMatch UMLS:C1423930 Unspecified ORMDL3 +OMIM:610075 skos:exactMatch HGNC:16038 Unspecified ORMDL3 +OMIM:609089 skos:exactMatch HGNC_symbol:FBXO3 Unspecified FBXO3 +OMIM:609089 skos:exactMatch HGNC:13582 Unspecified FBXO3 +OMIM:609089 skos:exactMatch UMLS:C1422077 Unspecified FBXO3 +OMIM:610070 skos:exactMatch HGNC:26118 Unspecified None +OMIM:610070 skos:exactMatch HGNC_symbol:MAP9 Unspecified None +OMIM:610070 skos:exactMatch UMLS:C1825946 Unspecified None +OMIM:609088 skos:exactMatch HGNC_symbol:FBXL22 Unspecified FBXL22 +OMIM:609088 skos:exactMatch HGNC:27537 Unspecified FBXL22 +OMIM:609088 skos:exactMatch UMLS:C1539489 Unspecified FBXL22 +OMIM:609087 skos:exactMatch HGNC_symbol:FBXL21P Unspecified FBXL21 +OMIM:609087 skos:exactMatch HGNC:13600 Unspecified FBXL21 +OMIM:609087 skos:exactMatch UMLS:C1539488 Unspecified FBXL21 +OMIM:610072 skos:exactMatch HGNC_symbol:ERMN Unspecified ERMN +OMIM:610072 skos:exactMatch HGNC:29208 Unspecified ERMN +OMIM:610072 skos:exactMatch UMLS:C1428813 Unspecified ERMN +OMIM:609086 skos:exactMatch HGNC_symbol:FBXL20 Unspecified FBXL20 +OMIM:609086 skos:exactMatch UMLS:C1539487 Unspecified FBXL20 +OMIM:609086 skos:exactMatch HGNC:24679 Unspecified FBXL20 +OMIM:610071 skos:exactMatch UMLS:C1864729 Unspecified hyperparathyroidism 3 +OMIM:149600 skos:exactMatch UMLS:C1835613 Unspecified labia minora, incomplete adhesion of +OMIM:123050 skos:exactMatch UMLS:C1852501 Unspecified craniorhiny +OMIM:208400 skos:exactMatch ORPHA:93 Unspecified aspartylglucosaminuria +OMIM:208400 skos:exactMatch UMLS:C0268225 Unspecified aspartylglucosaminuria +OMIM:208400 skos:exactMatch UMLS:C2931840 Unspecified aspartylglucosaminuria +OMIM:150600 skos:exactMatch UMLS:C0023234 Unspecified legg-calve-perthes disease +OMIM:162600 skos:exactMatch UMLS:C1834180 Unspecified neuropathy, with paraprotein 1n serum, cerebrospinal fluid and urine +OMIM:111150 skos:exactMatch UMLS:C1292231 Unspecified blood group--lutheran inhibitor +OMIM:186711 skos:exactMatch UMLS:C1824668 Unspecified CD27 +OMIM:186711 skos:exactMatch HGNC_symbol:CD27 Unspecified CD27 +OMIM:186711 skos:exactMatch HGNC:11922 Unspecified CD27 +OMIM:186710 skos:exactMatch UMLS:C1861300 Unspecified +OMIM:147100 skos:exactMatch HGNC:5525 Unspecified IGHG1 +OMIM:147100 skos:exactMatch HGNC_symbol:IGHG1 Unspecified IGHG1 +OMIM:147100 skos:exactMatch UMLS:C1415978 Unspecified IGHG1 +OMIM:186720 skos:exactMatch HGNC:1691 Unspecified CD6 +OMIM:186720 skos:exactMatch UMLS:C1413232 Unspecified CD6 +OMIM:186720 skos:exactMatch HGNC_symbol:CD6 Unspecified CD6 +OMIM:147110 skos:exactMatch HGNC_symbol:IGHG2 Unspecified IGHG2 +OMIM:147110 skos:exactMatch UMLS:C1415979 Unspecified IGHG2 +OMIM:147110 skos:exactMatch HGNC:5526 Unspecified IGHG2 +OMIM:111130 skos:exactMatch UMLS:C1862216 Unspecified blood group--lke +OMIM:147130 skos:exactMatch UMLS:C1415981 Unspecified IGHG4 +OMIM:147130 skos:exactMatch HGNC:5528 Unspecified IGHG4 +OMIM:147130 skos:exactMatch HGNC_symbol:IGHG4 Unspecified IGHG4 +OMIM:208600 skos:exactMatch UMLS:C1859647 Unspecified asthma, short stature, and elevated iga +OMIM:147120 skos:exactMatch HGNC_symbol:IGHG3 Unspecified IGHG3 +OMIM:147120 skos:exactMatch UMLS:C1415980 Unspecified IGHG3 +OMIM:147120 skos:exactMatch HGNC:5527 Unspecified IGHG3 +OMIM:135150 skos:exactMatch UMLS:C0346010 Unspecified birt-hogg-dube syndrome +OMIM:159100 skos:exactMatch UMLS:C1834651 Unspecified muscular hypoplasia, congenital universal, of krabbe +OMIM:186700 skos:exactMatch UMLS:C4538540 Unspecified syringomyelia, noncommunicating isolated +OMIM:147141 skos:exactMatch HGNC_symbol:TCF3 Unspecified TCF3 +OMIM:147141 skos:exactMatch UMLS:C1840249 Unspecified TCF3 +OMIM:147141 skos:exactMatch UMLS:C1336596 Unspecified TCF3 +OMIM:147141 skos:exactMatch UMLS:C1840636 Unspecified TCF3 +OMIM:147141 skos:exactMatch HGNC:11633 Unspecified TCF3 +OMIM:147141 skos:exactMatch UMLS:C1867800 Unspecified TCF3 +OMIM:147140 skos:exactMatch UMLS:C1414547 Unspecified FCER1A +OMIM:147140 skos:exactMatch HGNC_symbol:FCER1A Unspecified FCER1A +OMIM:147140 skos:exactMatch HGNC:3609 Unspecified FCER1A +OMIM:123101 skos:exactMatch HGNC:7392 Unspecified MSX2 +OMIM:123101 skos:exactMatch HGNC_symbol:MSX2 Unspecified MSX2 +OMIM:123101 skos:exactMatch UMLS:C1417388 Unspecified MSX2 +OMIM:123100 skos:exactMatch UMLS:C4551902 Unspecified craniosynostosis 1 +OMIM:147138 skos:exactMatch UMLS:C1417327 Unspecified MS4A2 +OMIM:147138 skos:exactMatch HGNC_symbol:MS4A2 Unspecified MS4A2 +OMIM:147138 skos:exactMatch HGNC:7316 Unspecified MS4A2 +OMIM:147139 skos:exactMatch HGNC_symbol:FCER1G Unspecified FCER1G +OMIM:147139 skos:exactMatch HGNC:3611 Unspecified FCER1G +OMIM:147139 skos:exactMatch UMLS:C1414548 Unspecified FCER1G +OMIM:186750 skos:exactMatch UMLS:C1861296 Unspecified talonavicular coalition +OMIM:160120 skos:exactMatch UMLS:C1719788 Unspecified episodic ataxia, iia 1 +OMIM:160120 skos:exactMatch ORPHA:972 Unspecified episodic ataxia, iia 1 +OMIM:160120 skos:exactMatch ORPHA:37612 Unspecified episodic ataxia, iia 1 +OMIM:147150 skos:exactMatch HGNC_symbol:MX1 Unspecified MX1 +OMIM:147150 skos:exactMatch HGNC:7532 Unspecified MX1 +OMIM:147150 skos:exactMatch UMLS:C1417510 Unspecified MX1 +OMIM:600808 skos:exactMatch UMLS:C1833268 Unspecified enuresis, nocturnal, 2 +OMIM:600807 skos:exactMatch UMLS:C1833269 Unspecified asthma, susceptibility to +OMIM:600807 skos:exactMatch UMLS:C1833270 Unspecified asthma, susceptibility to +OMIM:600807 skos:exactMatch UMLS:C1869116 Unspecified asthma, susceptibility to +OMIM:172100 skos:exactMatch HGNC:8907 Unspecified PGM3 +OMIM:172100 skos:exactMatch HGNC_symbol:PGM3 Unspecified PGM3 +OMIM:172100 skos:exactMatch UMLS:C1418518 Unspecified PGM3 +OMIM:172100 skos:exactMatch UMLS:C4014371 Unspecified PGM3 +OMIM:600806 skos:exactMatch UMLS:C1413550 Unspecified CNN1 +OMIM:600806 skos:exactMatch HGNC_symbol:CNN1 Unspecified CNN1 +OMIM:600806 skos:exactMatch HGNC:2155 Unspecified CNN1 +OMIM:600805 skos:exactMatch UMLS:C1416777 Unspecified LAMA3 +OMIM:600805 skos:exactMatch HGNC:6483 Unspecified LAMA3 +OMIM:600805 skos:exactMatch HGNC_symbol:LAMA3 Unspecified LAMA3 +OMIM:600804 skos:exactMatch UMLS:C3837967 Unspecified MTNR1B +OMIM:600804 skos:exactMatch UMLS:C1442506 Unspecified MTNR1B +OMIM:600804 skos:exactMatch HGNC:7464 Unspecified MTNR1B +OMIM:600804 skos:exactMatch HGNC_symbol:MTNR1B Unspecified MTNR1B +OMIM:174760 skos:exactMatch HGNC_symbol:POLB Unspecified POLB +OMIM:174760 skos:exactMatch HGNC:9174 Unspecified POLB +OMIM:174760 skos:exactMatch UMLS:C1335230 Unspecified POLB +OMIM:600803 skos:exactMatch UMLS:C2609268 Unspecified gallbladder disease 1 +OMIM:174761 skos:exactMatch UMLS:C1418727 Unspecified POLD1 +OMIM:174761 skos:exactMatch HGNC:9175 Unspecified POLD1 +OMIM:174761 skos:exactMatch HGNC_symbol:POLD1 Unspecified POLD1 +OMIM:174762 skos:exactMatch UMLS:C1418729 Unspecified POLE +OMIM:174762 skos:exactMatch HGNC_symbol:POLE Unspecified POLE +OMIM:174762 skos:exactMatch HGNC:9177 Unspecified POLE +OMIM:600802 skos:exactMatch UMLS:C1833275 Unspecified severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative +OMIM:174763 skos:exactMatch UMLS:C1418731 Unspecified POLG +OMIM:174763 skos:exactMatch HGNC_symbol:POLG Unspecified POLG +OMIM:174763 skos:exactMatch HGNC:9179 Unspecified POLG +OMIM:600801 skos:exactMatch UMLS:C1833276 Unspecified isoproterenol-mediated vasodilatation +OMIM:600800 skos:exactMatch HGNC:7626 Unspecified NAB1 +OMIM:600800 skos:exactMatch HGNC_symbol:NAB1 Unspecified NAB1 +OMIM:600800 skos:exactMatch UMLS:C1417588 Unspecified NAB1 +OMIM:111100 skos:exactMatch HGNC_symbol:FUT3 Unspecified FUT3 +OMIM:111100 skos:exactMatch UMLS:C1414864 Unspecified FUT3 +OMIM:111100 skos:exactMatch HGNC:4014 Unspecified FUT3 +OMIM:111100 skos:exactMatch UMLS:C4015916 Unspecified FUT3 +OMIM:184100 skos:exactMatch UMLS:C1866717 Unspecified spondyloepiphyseal dysplasia tarda, autosomal dominant +OMIM:186760 skos:exactMatch UMLS:C1332709 Unspecified CD28 +OMIM:186760 skos:exactMatch HGNC_symbol:CD28 Unspecified CD28 +OMIM:186760 skos:exactMatch HGNC:1653 Unspecified CD28 +OMIM:600819 skos:exactMatch UMLS:C1414872 Unspecified FXR1 +OMIM:600819 skos:exactMatch HGNC_symbol:FXR1 Unspecified FXR1 +OMIM:600819 skos:exactMatch UMLS:C5394193 Unspecified FXR1 +OMIM:600819 skos:exactMatch UMLS:C5394189 Unspecified FXR1 +OMIM:600819 skos:exactMatch HGNC:4023 Unspecified FXR1 +OMIM:600818 skos:exactMatch HGNC:11553 Unspecified TAGLN +OMIM:600818 skos:exactMatch HGNC_symbol:TAGLN Unspecified TAGLN +OMIM:600818 skos:exactMatch UMLS:C1420578 Unspecified TAGLN +OMIM:600817 skos:exactMatch HGNC_symbol:VSNL1 Unspecified VSNL1 +OMIM:600817 skos:exactMatch HGNC:12722 Unspecified VSNL1 +OMIM:600817 skos:exactMatch UMLS:C1421472 Unspecified VSNL1 +OMIM:600816 skos:exactMatch UMLS:C1415764 Unspecified HSPA8 +OMIM:600816 skos:exactMatch HGNC_symbol:HSPA8 Unspecified HSPA8 +OMIM:600816 skos:exactMatch HGNC:5241 Unspecified HSPA8 +OMIM:600815 skos:exactMatch HGNC_symbol:POLD2 Unspecified POLD2 +OMIM:600815 skos:exactMatch HGNC:9176 Unspecified POLD2 +OMIM:600815 skos:exactMatch UMLS:C1418728 Unspecified POLD2 +OMIM:600814 skos:exactMatch HGNC:7230 Unspecified MRE11 +OMIM:600814 skos:exactMatch HGNC_symbol:MRE11 Unspecified MRE11 +OMIM:600814 skos:exactMatch UMLS:C1417250 Unspecified MRE11 +OMIM:174750 skos:exactMatch UMLS:C3887935 Unspecified polykaryocytosis inducer +OMIM:600813 skos:exactMatch UMLS:C1419992 Unspecified SRSF2 +OMIM:600813 skos:exactMatch HGNC_symbol:SRSF2 Unspecified SRSF2 +OMIM:600813 skos:exactMatch HGNC:10783 Unspecified SRSF2 +OMIM:600812 skos:exactMatch UMLS:C1419989 Unspecified SRSF1 +OMIM:600812 skos:exactMatch HGNC_symbol:SRSF1 Unspecified SRSF1 +OMIM:600812 skos:exactMatch HGNC:10780 Unspecified SRSF1 +OMIM:600811 skos:exactMatch UMLS:C1413942 Unspecified DDB2 +OMIM:600811 skos:exactMatch HGNC_symbol:DDB2 Unspecified DDB2 +OMIM:600811 skos:exactMatch HGNC:2718 Unspecified DDB2 +OMIM:600810 skos:exactMatch HGNC_symbol:PLCB4 Unspecified PLCB4 +OMIM:600810 skos:exactMatch UMLS:C1418634 Unspecified PLCB4 +OMIM:600810 skos:exactMatch HGNC:9059 Unspecified PLCB4 +OMIM:186730 skos:exactMatch HGNC_symbol:CD8B Unspecified CD8B +OMIM:186730 skos:exactMatch UMLS:C1824666 Unspecified CD8B +OMIM:186730 skos:exactMatch HGNC:1707 Unspecified CD8B +OMIM:113750 skos:exactMatch UMLS:C3805375 Unspecified albinism, oculocutaneous, iia 6 +OMIM:113750 skos:exactMatch UMLS:C2676042 Unspecified albinism, oculocutaneous, iia 6 +OMIM:147170 skos:exactMatch HGNC_symbol:IGHD Unspecified IGHD +OMIM:147170 skos:exactMatch HGNC:5480 Unspecified IGHD +OMIM:147170 skos:exactMatch UMLS:C1415935 Unspecified IGHD +OMIM:186740 skos:exactMatch HGNC_symbol:CD3G Unspecified CD3G +OMIM:186740 skos:exactMatch HGNC:1675 Unspecified CD3G +OMIM:186740 skos:exactMatch UMLS:C1413223 Unspecified CD3G +OMIM:186745 skos:exactMatch HGNC_symbol:TLN1 Unspecified TLN1 +OMIM:186745 skos:exactMatch HGNC:11845 Unspecified TLN1 +OMIM:186745 skos:exactMatch UMLS:C1420760 Unspecified TLN1 +OMIM:147180 skos:exactMatch HGNC:5522 Unspecified IGHE +OMIM:147180 skos:exactMatch UMLS:C1840248 Unspecified IGHE +OMIM:147180 skos:exactMatch UMLS:C1415977 Unspecified IGHE +OMIM:147180 skos:exactMatch UMLS:C1415976 Unspecified IGHE +OMIM:147180 skos:exactMatch UMLS:C1415975 Unspecified IGHE +OMIM:147180 skos:exactMatch HGNC_symbol:IGHE Unspecified IGHE +OMIM:147185 skos:exactMatch HGNC_symbol:IGKV1OR2-108 Unspecified IGKV1OR2108 +OMIM:147185 skos:exactMatch HGNC:5767 Unspecified IGKV1OR2108 +OMIM:147185 skos:exactMatch UMLS:C1416211 Unspecified IGKV1OR2108 +OMIM:147183 skos:exactMatch HGNC:5724 Unspecified RBPJ +OMIM:147183 skos:exactMatch UMLS:C1416171 Unspecified RBPJ +OMIM:147183 skos:exactMatch UMLS:C3553748 Unspecified RBPJ +OMIM:147183 skos:exactMatch HGNC_symbol:RBPJ Unspecified RBPJ +OMIM:172110 skos:exactMatch UMLS:C1868356 Unspecified phosphoglucomutase 4 +OMIM:174770 skos:exactMatch UMLS:C1868090 Unspecified actinic prurigo +OMIM:174770 skos:exactMatch UMLS:C0406217 Unspecified actinic prurigo +OMIM:113730 skos:exactMatch HGNC_symbol:UCP1 Unspecified UCP1 +OMIM:113730 skos:exactMatch HGNC:12517 Unspecified UCP1 +OMIM:113730 skos:exactMatch UMLS:C1421313 Unspecified UCP1 +OMIM:612839 skos:exactMatch HGNC:25941 Unspecified TET2 +OMIM:612839 skos:exactMatch UMLS:C5436860 Unspecified TET2 +OMIM:612839 skos:exactMatch UMLS:C1825692 Unspecified TET2 +OMIM:612839 skos:exactMatch HGNC_symbol:TET2 Unspecified TET2 +OMIM:612837 skos:exactMatch HGNC_symbol:COQ9 Unspecified COQ9 +OMIM:612837 skos:exactMatch HGNC:25302 Unspecified COQ9 +OMIM:612837 skos:exactMatch UMLS:C1824778 Unspecified COQ9 +OMIM:612838 skos:exactMatch UMLS:C2748542 Unspecified brugada syndrome 5 +OMIM:612838 skos:exactMatch UMLS:C2748541 Unspecified brugada syndrome 5 +OMIM:612835 skos:exactMatch UMLS:C1826592 Unspecified PLCH1 +OMIM:612835 skos:exactMatch HGNC:29185 Unspecified PLCH1 +OMIM:612835 skos:exactMatch HGNC_symbol:PLCH1 Unspecified PLCH1 +OMIM:612836 skos:exactMatch UMLS:C1826593 Unspecified PLCH2 +OMIM:612836 skos:exactMatch HGNC:29037 Unspecified PLCH2 +OMIM:612836 skos:exactMatch HGNC_symbol:PLCH2 Unspecified PLCH2 +OMIM:612833 skos:exactMatch HGNC:21524 Unspecified DHRS7 +OMIM:612833 skos:exactMatch UMLS:C1427588 Unspecified DHRS7 +OMIM:612833 skos:exactMatch HGNC_symbol:DHRS7 Unspecified DHRS7 +OMIM:612834 skos:exactMatch HGNC:23697 Unspecified PHLDB1 +OMIM:612834 skos:exactMatch UMLS:C1428201 Unspecified PHLDB1 +OMIM:612834 skos:exactMatch HGNC_symbol:PHLDB1 Unspecified PHLDB1 +OMIM:612831 skos:exactMatch HGNC_symbol:HSD17B11 Unspecified HSD17B11 +OMIM:612831 skos:exactMatch UMLS:C1825529 Unspecified HSD17B11 +OMIM:612831 skos:exactMatch HGNC:22960 Unspecified HSD17B11 +OMIM:612832 skos:exactMatch HGNC:23238 Unspecified HSD17B14 +OMIM:612832 skos:exactMatch HGNC_symbol:HSD17B14 Unspecified HSD17B14 +OMIM:612832 skos:exactMatch UMLS:C1825530 Unspecified HSD17B14 +OMIM:612830 skos:exactMatch HGNC:17693 Unspecified DHRS3 +OMIM:612830 skos:exactMatch UMLS:C1425040 Unspecified DHRS3 +OMIM:612830 skos:exactMatch HGNC_symbol:DHRS3 Unspecified DHRS3 +OMIM:186790 skos:exactMatch HGNC_symbol:CD3D Unspecified CD3D +OMIM:186790 skos:exactMatch HGNC:1673 Unspecified CD3D +OMIM:186790 skos:exactMatch UMLS:C1413222 Unspecified CD3D +OMIM:600849 skos:exactMatch UMLS:C1334870 Unspecified NCOR1 +OMIM:600849 skos:exactMatch HGNC:7672 Unspecified NCOR1 +OMIM:600849 skos:exactMatch HGNC_symbol:NCOR1 Unspecified NCOR1 +OMIM:600848 skos:exactMatch HGNC:7673 Unspecified NCOR2 +OMIM:600848 skos:exactMatch UMLS:C1334871 Unspecified NCOR2 +OMIM:600848 skos:exactMatch HGNC_symbol:NCOR2 Unspecified NCOR2 +OMIM:600846 skos:exactMatch UMLS:C1418213 Unspecified P2RX4 +OMIM:600846 skos:exactMatch HGNC_symbol:P2RX4 Unspecified P2RX4 +OMIM:600846 skos:exactMatch HGNC:8535 Unspecified P2RX4 +OMIM:600845 skos:exactMatch UMLS:C1418211 Unspecified P2RX1 +OMIM:600845 skos:exactMatch HGNC_symbol:P2RX1 Unspecified P2RX1 +OMIM:600845 skos:exactMatch HGNC:8533 Unspecified P2RX1 +OMIM:600844 skos:exactMatch UMLS:C1423503 Unspecified P2RX2 +OMIM:600844 skos:exactMatch HGNC_symbol:P2RX2 Unspecified P2RX2 +OMIM:600844 skos:exactMatch HGNC:15459 Unspecified P2RX2 +OMIM:600843 skos:exactMatch UMLS:C1418212 Unspecified P2RX3 +OMIM:600843 skos:exactMatch HGNC_symbol:P2RX3 Unspecified P2RX3 +OMIM:600843 skos:exactMatch HGNC:8534 Unspecified P2RX3 +OMIM:600842 skos:exactMatch HGNC_symbol:GCKR Unspecified GCKR +OMIM:600842 skos:exactMatch HGNC:4196 Unspecified GCKR +OMIM:600842 skos:exactMatch UMLS:C1415015 Unspecified GCKR +OMIM:600842 skos:exactMatch UMLS:C3150714 Unspecified GCKR +OMIM:600841 skos:exactMatch UMLS:C1833249 Unspecified eukaryotic translation elongation factor 1 alpha-1-like 14 +OMIM:600840 skos:exactMatch HGNC_symbol:SLC12A2 Unspecified SLC12A2 +OMIM:600840 skos:exactMatch UMLS:C1420091 Unspecified SLC12A2 +OMIM:600840 skos:exactMatch UMLS:C5436771 Unspecified SLC12A2 +OMIM:600840 skos:exactMatch UMLS:C5436768 Unspecified SLC12A2 +OMIM:600840 skos:exactMatch UMLS:C5436756 Unspecified SLC12A2 +OMIM:600840 skos:exactMatch HGNC:10911 Unspecified SLC12A2 +OMIM:113720 skos:exactMatch UMLS:C1862008 Unspecified +OMIM:612828 skos:exactMatch HGNC:24218 Unspecified CEBPZ +OMIM:612828 skos:exactMatch UMLS:C1428360 Unspecified CEBPZ +OMIM:612828 skos:exactMatch HGNC_symbol:CEBPZ Unspecified CEBPZ +OMIM:612829 skos:exactMatch HGNC:30269 Unspecified RAB3C +OMIM:612829 skos:exactMatch UMLS:C1428952 Unspecified RAB3C +OMIM:612829 skos:exactMatch HGNC_symbol:RAB3C Unspecified RAB3C +OMIM:612826 skos:exactMatch HGNC:17720 Unspecified SGPP1 +OMIM:612826 skos:exactMatch HGNC_symbol:SGPP1 Unspecified SGPP1 +OMIM:612826 skos:exactMatch UMLS:C1425046 Unspecified SGPP1 +OMIM:612827 skos:exactMatch HGNC:19953 Unspecified SGPP2 +OMIM:612827 skos:exactMatch HGNC_symbol:SGPP2 Unspecified SGPP2 +OMIM:612827 skos:exactMatch UMLS:C1426555 Unspecified SGPP2 +OMIM:612824 skos:exactMatch UMLS:C1425682 Unspecified SEC14L3 +OMIM:612824 skos:exactMatch HGNC:18655 Unspecified SEC14L3 +OMIM:612824 skos:exactMatch HGNC_symbol:SEC14L3 Unspecified SEC14L3 +OMIM:612825 skos:exactMatch UMLS:C1427039 Unspecified SEC14L4 +OMIM:612825 skos:exactMatch HGNC_symbol:SEC14L4 Unspecified SEC14L4 +OMIM:612825 skos:exactMatch HGNC:20627 Unspecified SEC14L4 +OMIM:612822 skos:exactMatch HGNC:17897 Unspecified UTP20 +OMIM:612822 skos:exactMatch HGNC_symbol:UTP20 Unspecified UTP20 +OMIM:612822 skos:exactMatch UMLS:C1823612 Unspecified UTP20 +OMIM:612823 skos:exactMatch HGNC_symbol:TAF1D Unspecified TAF1D +OMIM:612823 skos:exactMatch UMLS:C1825640 Unspecified TAF1D +OMIM:612823 skos:exactMatch HGNC:28759 Unspecified TAF1D +OMIM:160150 skos:exactMatch UMLS:C4551952 Unspecified myopathy, centronuclear, 1 +OMIM:612820 skos:exactMatch UMLS:C1826467 Unspecified NPTN +OMIM:612820 skos:exactMatch HGNC:17867 Unspecified NPTN +OMIM:612820 skos:exactMatch HGNC_symbol:NPTN Unspecified NPTN +OMIM:113725 skos:exactMatch UMLS:C1418766 Unspecified POU4F2 +OMIM:113725 skos:exactMatch HGNC:9219 Unspecified POU4F2 +OMIM:113725 skos:exactMatch HGNC_symbol:POU4F2 Unspecified POU4F2 +OMIM:612821 skos:exactMatch HGNC_symbol:GPR89A Unspecified GPR89A +OMIM:612821 skos:exactMatch UMLS:C1825399 Unspecified GPR89A +OMIM:612821 skos:exactMatch HGNC:31984 Unspecified GPR89A +OMIM:113721 skos:exactMatch UMLS:C1332403 Unspecified breast cancer-related regulator of tp53 +OMIM:600859 skos:exactMatch HGNC:20609 Unspecified AIMP2 +OMIM:600859 skos:exactMatch HGNC_symbol:AIMP2 Unspecified AIMP2 +OMIM:600859 skos:exactMatch UMLS:C1833235 Unspecified AIMP2 +OMIM:600858 skos:exactMatch UMLS:C1833236 Unspecified cardiomyopathy, familial hypertrophic, 6 +OMIM:600857 skos:exactMatch UMLS:C1419906 Unspecified SDHA +OMIM:600857 skos:exactMatch HGNC:10680 Unspecified SDHA +OMIM:600857 skos:exactMatch HGNC_symbol:SDHA Unspecified SDHA +OMIM:600856 skos:exactMatch HGNC_symbol:CDKN1C Unspecified CDKN1C +OMIM:600856 skos:exactMatch UMLS:C1366618 Unspecified CDKN1C +OMIM:600856 skos:exactMatch HGNC:1786 Unspecified CDKN1C +OMIM:600855 skos:exactMatch HGNC:3091 Unspecified DYRK1A +OMIM:600855 skos:exactMatch UMLS:C3279839 Unspecified DYRK1A +OMIM:600855 skos:exactMatch HGNC_symbol:DYRK1A Unspecified DYRK1A +OMIM:600855 skos:exactMatch UMLS:C1414204 Unspecified DYRK1A +OMIM:600853 skos:exactMatch UMLS:C1417617 Unspecified NDST1 +OMIM:600853 skos:exactMatch HGNC_symbol:NDST1 Unspecified NDST1 +OMIM:600853 skos:exactMatch HGNC:7680 Unspecified NDST1 +OMIM:600852 skos:exactMatch UMLS:C1833245 Unspecified retinitis pigmentosa 17 +OMIM:600851 skos:exactMatch UMLS:C1833246 Unspecified mitochondrial import-stimulating factor +OMIM:600850 skos:exactMatch UMLS:C1833247 Unspecified schizophrenia 4 +OMIM:125700 skos:exactMatch UMLS:C0687720 Unspecified diabetes insipidus, neurohypophyseal +OMIM:612819 skos:exactMatch HGNC:28461 Unspecified NOC4L +OMIM:612819 skos:exactMatch HGNC_symbol:NOC4L Unspecified NOC4L +OMIM:612819 skos:exactMatch UMLS:C1826447 Unspecified NOC4L +OMIM:612817 skos:exactMatch HGNC_symbol:KRR1 Unspecified KRR1 +OMIM:612817 skos:exactMatch HGNC:5176 Unspecified KRR1 +OMIM:612817 skos:exactMatch UMLS:C1825740 Unspecified KRR1 +OMIM:612818 skos:exactMatch HGNC_symbol:NUSAP1 Unspecified NUSAP1 +OMIM:612818 skos:exactMatch UMLS:C1425583 Unspecified NUSAP1 +OMIM:612818 skos:exactMatch HGNC:18538 Unspecified NUSAP1 +OMIM:612815 skos:exactMatch HGNC_symbol:ZDHHC13 Unspecified ZDHHC13 +OMIM:612815 skos:exactMatch UMLS:C1538167 Unspecified ZDHHC13 +OMIM:612815 skos:exactMatch HGNC:18413 Unspecified ZDHHC13 +OMIM:612816 skos:exactMatch UMLS:C1823611 Unspecified UTP18 +OMIM:612816 skos:exactMatch HGNC:24274 Unspecified UTP18 +OMIM:612816 skos:exactMatch HGNC_symbol:UTP18 Unspecified UTP18 +OMIM:612813 skos:exactMatch UMLS:C2748544 Unspecified spondyloepimetaphyseal dysplasia, aggrecan iia +OMIM:612814 skos:exactMatch UMLS:C1539812 Unspecified SPATA18 +OMIM:612814 skos:exactMatch HGNC_symbol:SPATA18 Unspecified SPATA18 +OMIM:612814 skos:exactMatch HGNC:29579 Unspecified SPATA18 +OMIM:612811 skos:exactMatch UMLS:C1426894 Unspecified LRFN5 +OMIM:612811 skos:exactMatch HGNC_symbol:LRFN5 Unspecified LRFN5 +OMIM:612811 skos:exactMatch HGNC:20360 Unspecified LRFN5 +OMIM:612812 skos:exactMatch HGNC_symbol:PFN3 Unspecified PFN3 +OMIM:612812 skos:exactMatch UMLS:C1826569 Unspecified PFN3 +OMIM:612812 skos:exactMatch HGNC:18627 Unspecified PFN3 +OMIM:612810 skos:exactMatch HGNC_symbol:LRFN4 Unspecified LRFN4 +OMIM:612810 skos:exactMatch UMLS:C1428712 Unspecified LRFN4 +OMIM:612810 skos:exactMatch HGNC:28456 Unspecified LRFN4 +OMIM:186770 skos:exactMatch UMLS:C0920270 Unspecified TLX1 +OMIM:186770 skos:exactMatch HGNC_symbol:TLX1 Unspecified TLX1 +OMIM:186770 skos:exactMatch HGNC:5056 Unspecified TLX1 +OMIM:113710 skos:exactMatch HGNC:11755 Unspecified TFF1 +OMIM:113710 skos:exactMatch UMLS:C1366563 Unspecified TFF1 +OMIM:113710 skos:exactMatch HGNC_symbol:TFF1 Unspecified TFF1 +OMIM:600829 skos:exactMatch HGNC:6080 Unspecified INPPL1 +OMIM:600829 skos:exactMatch UMLS:C1416448 Unspecified INPPL1 +OMIM:600829 skos:exactMatch HGNC_symbol:INPPL1 Unspecified INPPL1 +OMIM:600828 skos:exactMatch HGNC:850 Unspecified ATP5PO +OMIM:600828 skos:exactMatch UMLS:C1412671 Unspecified ATP5PO +OMIM:600828 skos:exactMatch HGNC_symbol:ATP5PO Unspecified ATP5PO +OMIM:600827 skos:exactMatch HGNC_symbol:PDE6C Unspecified PDE6C +OMIM:600827 skos:exactMatch HGNC:8787 Unspecified PDE6C +OMIM:600827 skos:exactMatch UMLS:C1418427 Unspecified PDE6C +OMIM:600827 skos:exactMatch UMLS:C2751309 Unspecified PDE6C +OMIM:600827 skos:exactMatch UMLS:C2751308 Unspecified PDE6C +OMIM:600826 skos:exactMatch UMLS:C1413764 Unspecified CSPG3 +OMIM:600826 skos:exactMatch HGNC_symbol:NCAN Unspecified CSPG3 +OMIM:600826 skos:exactMatch HGNC:2465 Unspecified CSPG3 +OMIM:600825 skos:exactMatch UMLS:C1335634 Unspecified RORA +OMIM:600825 skos:exactMatch HGNC_symbol:RORA Unspecified RORA +OMIM:600825 skos:exactMatch HGNC:10258 Unspecified RORA +OMIM:600824 skos:exactMatch UMLS:C1413769 Unspecified CSRP3 +OMIM:600824 skos:exactMatch HGNC_symbol:CSRP3 Unspecified CSRP3 +OMIM:600824 skos:exactMatch HGNC:2472 Unspecified CSRP3 +OMIM:600823 skos:exactMatch UMLS:C1418974 Unspecified PRSS8 +OMIM:600823 skos:exactMatch HGNC_symbol:PRSS8 Unspecified PRSS8 +OMIM:600823 skos:exactMatch HGNC:9491 Unspecified PRSS8 +OMIM:600822 skos:exactMatch HGNC:11542 Unspecified TAF9 +OMIM:600822 skos:exactMatch HGNC_symbol:TAF9 Unspecified TAF9 +OMIM:600822 skos:exactMatch UMLS:C1336573 Unspecified TAF9 +OMIM:600821 skos:exactMatch UMLS:C1332122 Unspecified AVPR1A +OMIM:600821 skos:exactMatch HGNC:895 Unspecified AVPR1A +OMIM:600821 skos:exactMatch HGNC_symbol:AVPR1A Unspecified AVPR1A +OMIM:600820 skos:exactMatch UMLS:C1412502 Unspecified ARCN1 +OMIM:600820 skos:exactMatch HGNC_symbol:ARCN1 Unspecified ARCN1 +OMIM:600820 skos:exactMatch HGNC:649 Unspecified ARCN1 +OMIM:612808 skos:exactMatch UMLS:C1427431 Unspecified LRFN2 +OMIM:612808 skos:exactMatch HGNC_symbol:LRFN2 Unspecified LRFN2 +OMIM:612808 skos:exactMatch HGNC:21226 Unspecified LRFN2 +OMIM:612809 skos:exactMatch UMLS:C1428696 Unspecified LRFN3 +OMIM:612809 skos:exactMatch HGNC:28370 Unspecified LRFN3 +OMIM:612809 skos:exactMatch HGNC_symbol:LRFN3 Unspecified LRFN3 +OMIM:612806 skos:exactMatch HGNC:13840 Unspecified GPR89B +OMIM:612806 skos:exactMatch HGNC_symbol:GPR89B Unspecified GPR89B +OMIM:612806 skos:exactMatch UMLS:C1825398 Unspecified GPR89B +OMIM:612807 skos:exactMatch UMLS:C1428825 Unspecified LRFN1 +OMIM:612807 skos:exactMatch HGNC_symbol:LRFN1 Unspecified LRFN1 +OMIM:612807 skos:exactMatch HGNC:29290 Unspecified LRFN1 +OMIM:612804 skos:exactMatch UMLS:C1425041 Unspecified SARS2 +OMIM:612804 skos:exactMatch UMLS:C3151209 Unspecified SARS2 +OMIM:612804 skos:exactMatch HGNC_symbol:SARS2 Unspecified SARS2 +OMIM:612804 skos:exactMatch HGNC:17697 Unspecified SARS2 +OMIM:612805 skos:exactMatch HGNC_symbol:TARS2 Unspecified TARS2 +OMIM:612805 skos:exactMatch HGNC:30740 Unspecified TARS2 +OMIM:612805 skos:exactMatch UMLS:C1539926 Unspecified TARS2 +OMIM:612802 skos:exactMatch UMLS:C1823614 Unspecified VARS2 +OMIM:612802 skos:exactMatch HGNC_symbol:VARS2 Unspecified VARS2 +OMIM:612802 skos:exactMatch UMLS:C4014660 Unspecified VARS2 +OMIM:612802 skos:exactMatch HGNC:21642 Unspecified VARS2 +OMIM:612803 skos:exactMatch HGNC_symbol:NARS2 Unspecified NARS2 +OMIM:612803 skos:exactMatch HGNC:26274 Unspecified NARS2 +OMIM:612803 skos:exactMatch UMLS:C1826350 Unspecified NARS2 +OMIM:612800 skos:exactMatch HGNC:25695 Unspecified CARS2 +OMIM:612800 skos:exactMatch UMLS:C2240335 Unspecified CARS2 +OMIM:612800 skos:exactMatch HGNC_symbol:CARS2 Unspecified CARS2 +OMIM:113705 skos:exactMatch UMLS:C2676676 Unspecified BRCA1 +OMIM:113705 skos:exactMatch UMLS:C4015968 Unspecified BRCA1 +OMIM:113705 skos:exactMatch UMLS:C4554406 Unspecified BRCA1 +OMIM:113705 skos:exactMatch HGNC:1100 Unspecified BRCA1 +OMIM:113705 skos:exactMatch UMLS:C3280442 Unspecified BRCA1 +OMIM:113705 skos:exactMatch UMLS:C3469525 Unspecified BRCA1 +OMIM:113705 skos:exactMatch HGNC_symbol:BRCA1 Unspecified BRCA1 +OMIM:113705 skos:exactMatch UMLS:C0376571 Unspecified BRCA1 +OMIM:612801 skos:exactMatch HGNC_symbol:IARS2 Unspecified IARS2 +OMIM:612801 skos:exactMatch UMLS:C1825559 Unspecified IARS2 +OMIM:612801 skos:exactMatch HGNC:29685 Unspecified IARS2 +OMIM:113703 skos:exactMatch HGNC_symbol:RPL13 Unspecified RPL13 +OMIM:113703 skos:exactMatch UMLS:C5231478 Unspecified RPL13 +OMIM:113703 skos:exactMatch HGNC:10303 Unspecified RPL13 +OMIM:113703 skos:exactMatch UMLS:C1335636 Unspecified RPL13 +OMIM:113700 skos:exactMatch UMLS:C0432357 Unspecified breasts and/or nipples, aplasia or hypoplasia of, 1 +OMIM:186780 skos:exactMatch UMLS:C1824677 Unspecified CD247 +OMIM:186780 skos:exactMatch HGNC:1677 Unspecified CD247 +OMIM:186780 skos:exactMatch HGNC_symbol:CD247 Unspecified CD247 +OMIM:600839 skos:exactMatch HGNC_symbol:SLC12A1 Unspecified SLC12A1 +OMIM:600839 skos:exactMatch UMLS:C1420090 Unspecified SLC12A1 +OMIM:600839 skos:exactMatch HGNC:10910 Unspecified SLC12A1 +OMIM:600838 skos:exactMatch UMLS:C5394133 Unspecified FOXN1 +OMIM:600838 skos:exactMatch HGNC_symbol:FOXN1 Unspecified FOXN1 +OMIM:600838 skos:exactMatch UMLS:C5394592 Unspecified FOXN1 +OMIM:600838 skos:exactMatch UMLS:C5394567 Unspecified FOXN1 +OMIM:600838 skos:exactMatch HGNC:12765 Unspecified FOXN1 +OMIM:600838 skos:exactMatch UMLS:C2752083 Unspecified FOXN1 +OMIM:600838 skos:exactMatch UMLS:C1421504 Unspecified FOXN1 +OMIM:600838 skos:exactMatch UMLS:C1866426 Unspecified FOXN1 +OMIM:600837 skos:exactMatch UMLS:C1333669 Unspecified GDNF +OMIM:600837 skos:exactMatch HGNC_symbol:GDNF Unspecified GDNF +OMIM:600837 skos:exactMatch HGNC:4232 Unspecified GDNF +OMIM:600836 skos:exactMatch HGNC_symbol:CRYBA2 Unspecified CRYBA2 +OMIM:600836 skos:exactMatch UMLS:C1413727 Unspecified CRYBA2 +OMIM:600836 skos:exactMatch HGNC:2395 Unspecified CRYBA2 +OMIM:600835 skos:exactMatch UMLS:C1332817 Unspecified CXCL12 +OMIM:600835 skos:exactMatch HGNC:10672 Unspecified CXCL12 +OMIM:600835 skos:exactMatch HGNC_symbol:CXCL12 Unspecified CXCL12 +OMIM:600834 skos:exactMatch HGNC:12953 Unspecified ZNF165 +OMIM:600834 skos:exactMatch HGNC_symbol:ZNF165 Unspecified ZNF165 +OMIM:600834 skos:exactMatch UMLS:C1421654 Unspecified ZNF165 +OMIM:600833 skos:exactMatch HGNC_symbol:ST7 Unspecified ST7 +OMIM:600833 skos:exactMatch HGNC:11351 Unspecified ST7 +OMIM:600833 skos:exactMatch UMLS:C1420445 Unspecified ST7 +OMIM:600832 skos:exactMatch HGNC:13233 Unspecified ANP32A +OMIM:600832 skos:exactMatch UMLS:C1421894 Unspecified ANP32A +OMIM:600832 skos:exactMatch HGNC_symbol:ANP32A Unspecified ANP32A +OMIM:600831 skos:exactMatch UMLS:C1413906 Unspecified DAPK1 +OMIM:600831 skos:exactMatch HGNC:2674 Unspecified DAPK1 +OMIM:600831 skos:exactMatch HGNC_symbol:DAPK1 Unspecified DAPK1 +OMIM:600830 skos:exactMatch HGNC:12962 Unspecified TRIM26 +OMIM:600830 skos:exactMatch UMLS:C1421661 Unspecified TRIM26 +OMIM:600830 skos:exactMatch HGNC_symbol:TRIM26 Unspecified TRIM26 +OMIM:172150 skos:exactMatch UMLS:C1868355 Unspecified 6-phosphogluconolactonase deficiency +OMIM:600890 skos:exactMatch HGNC:4801 Unspecified HADHA +OMIM:600890 skos:exactMatch UMLS:C1415460 Unspecified HADHA +OMIM:600890 skos:exactMatch HGNC_symbol:HADHA Unspecified HADHA +OMIM:610218 skos:exactMatch UMLS:C1826974 Unspecified SAP30BP +OMIM:610218 skos:exactMatch HGNC_symbol:SAP30BP Unspecified SAP30BP +OMIM:610218 skos:exactMatch HGNC:30785 Unspecified SAP30BP +OMIM:610217 skos:exactMatch UMLS:C2750220 Unspecified neurodegeneration with brain iron accumulation 2b +OMIM:610217 skos:exactMatch UMLS:C1857747 Unspecified neurodegeneration with brain iron accumulation 2b +OMIM:612879 skos:exactMatch HGNC:23673 Unspecified MAMDC2 +OMIM:612879 skos:exactMatch UMLS:C1428190 Unspecified MAMDC2 +OMIM:612879 skos:exactMatch HGNC_symbol:MAMDC2 Unspecified MAMDC2 +OMIM:610219 skos:exactMatch HGNC_symbol:PJVK Unspecified PJVK +OMIM:610219 skos:exactMatch HGNC:29502 Unspecified PJVK +OMIM:610219 skos:exactMatch UMLS:C1539285 Unspecified PJVK +OMIM:612877 skos:exactMatch UMLS:C2752072 Unspecified cardiomyopathy, dilated, 1bb +OMIM:610214 skos:exactMatch HGNC_symbol:EDEM3 Unspecified EDEM3 +OMIM:610214 skos:exactMatch HGNC:16787 Unspecified EDEM3 +OMIM:610214 skos:exactMatch UMLS:C1825029 Unspecified EDEM3 +OMIM:610213 skos:exactMatch UMLS:C1857749 Unspecified aneurysm, intracranial berry, 4 +OMIM:612878 skos:exactMatch HGNC:30578 Unspecified EXPH5 +OMIM:612878 skos:exactMatch HGNC_symbol:EXPH5 Unspecified EXPH5 +OMIM:612878 skos:exactMatch UMLS:C1825081 Unspecified EXPH5 +OMIM:612875 skos:exactMatch HGNC:16341 Unspecified gonadotropin-releasing hormone receptor 2 +OMIM:612875 skos:exactMatch UMLS:C3888003 Unspecified gonadotropin-releasing hormone receptor 2 +OMIM:612875 skos:exactMatch HGNC_symbol:GNRHR2 Unspecified gonadotropin-releasing hormone receptor 2 +OMIM:610216 skos:exactMatch HGNC:29329 Unspecified ANO8 +OMIM:610216 skos:exactMatch UMLS:C1823305 Unspecified ANO8 +OMIM:610216 skos:exactMatch HGNC_symbol:ANO8 Unspecified ANO8 +OMIM:610215 skos:exactMatch HGNC:30275 Unspecified ARHGEF25 +OMIM:610215 skos:exactMatch HGNC_symbol:ARHGEF25 Unspecified ARHGEF25 +OMIM:610215 skos:exactMatch UMLS:C1857748 Unspecified ARHGEF25 +OMIM:612876 skos:exactMatch UMLS:C3887996 Unspecified spinocerebellar ataxia 9 +OMIM:612873 skos:exactMatch HGNC:16191 Unspecified NKAIN4 +OMIM:612873 skos:exactMatch UMLS:C1424068 Unspecified NKAIN4 +OMIM:612873 skos:exactMatch HGNC_symbol:NKAIN4 Unspecified NKAIN4 +OMIM:610210 skos:exactMatch UMLS:C1825934 Unspecified MAF1 +OMIM:610210 skos:exactMatch HGNC:24966 Unspecified MAF1 +OMIM:610210 skos:exactMatch HGNC_symbol:MAF1 Unspecified MAF1 +OMIM:612874 skos:exactMatch UMLS:C2752073 Unspecified erythrocyte amp deaminase deficiency +OMIM:612871 skos:exactMatch HGNC_symbol:NKAIN1 Unspecified NKAIN1 +OMIM:612871 skos:exactMatch HGNC:25743 Unspecified NKAIN1 +OMIM:612871 skos:exactMatch UMLS:C1825148 Unspecified NKAIN1 +OMIM:610212 skos:exactMatch UMLS:C1857750 Unspecified deafness, autosomal recessive 66 +OMIM:610211 skos:exactMatch HGNC:20495 Unspecified SLIRP +OMIM:610211 skos:exactMatch HGNC_symbol:SLIRP Unspecified SLIRP +OMIM:610211 skos:exactMatch UMLS:C1539044 Unspecified SLIRP +OMIM:612872 skos:exactMatch HGNC:26829 Unspecified NKAIN3 +OMIM:612872 skos:exactMatch HGNC_symbol:NKAIN3 Unspecified NKAIN3 +OMIM:612872 skos:exactMatch UMLS:C1825149 Unspecified NKAIN3 +OMIM:612880 skos:exactMatch HGNC:15585 Unspecified SYTL2 +OMIM:612880 skos:exactMatch UMLS:C1423595 Unspecified SYTL2 +OMIM:612880 skos:exactMatch HGNC_symbol:SYTL2 Unspecified SYTL2 +OMIM:612881 skos:exactMatch UMLS:C2752071 Unspecified chromosome 5q14.3 deletion syndrome, distal +OMIM:609232 skos:exactMatch HGNC:18826 Unspecified NUDT12 +OMIM:609232 skos:exactMatch UMLS:C1425804 Unspecified NUDT12 +OMIM:609232 skos:exactMatch HGNC_symbol:NUDT12 Unspecified NUDT12 +OMIM:609231 skos:exactMatch UMLS:C1417885 Unspecified NUDT7 +OMIM:609231 skos:exactMatch HGNC:8054 Unspecified NUDT7 +OMIM:609231 skos:exactMatch HGNC_symbol:NUDT7 Unspecified NUDT7 +OMIM:609230 skos:exactMatch UMLS:C1417883 Unspecified NUDT5 +OMIM:609230 skos:exactMatch HGNC:8052 Unspecified NUDT5 +OMIM:609230 skos:exactMatch HGNC_symbol:NUDT5 Unspecified NUDT5 +OMIM:600889 skos:exactMatch HGNC:4890 Unspecified CFHR2 +OMIM:600889 skos:exactMatch HGNC_symbol:CFHR2 Unspecified CFHR2 +OMIM:600889 skos:exactMatch UMLS:C1538443 Unspecified CFHR2 +OMIM:609236 skos:exactMatch HGNC:11405 Unspecified BRSK2 +OMIM:609236 skos:exactMatch HGNC_symbol:BRSK2 Unspecified BRSK2 +OMIM:609236 skos:exactMatch UMLS:C1538964 Unspecified BRSK2 +OMIM:600888 skos:exactMatch HGNC_symbol:ARHGEF5 Unspecified ARHGEF5 +OMIM:600888 skos:exactMatch HGNC:13209 Unspecified ARHGEF5 +OMIM:600888 skos:exactMatch UMLS:C1332111 Unspecified ARHGEF5 +OMIM:600887 skos:exactMatch HGNC_symbol:MSH3 Unspecified MSH3 +OMIM:600887 skos:exactMatch HGNC:7326 Unspecified MSH3 +OMIM:600887 skos:exactMatch UMLS:C0879392 Unspecified MSH3 +OMIM:609235 skos:exactMatch HGNC_symbol:BRSK1 Unspecified BRSK1 +OMIM:609235 skos:exactMatch UMLS:C1538963 Unspecified BRSK1 +OMIM:609235 skos:exactMatch HGNC:18994 Unspecified BRSK1 +OMIM:600886 skos:exactMatch UMLS:C1833213 Unspecified hyperferritinemia with or without cataract +OMIM:609234 skos:exactMatch HGNC:3254 Unspecified EIF2A +OMIM:609234 skos:exactMatch UMLS:C1825044 Unspecified EIF2A +OMIM:609234 skos:exactMatch HGNC_symbol:EIF2A Unspecified EIF2A +OMIM:609233 skos:exactMatch HGNC:18827 Unspecified NUDT13 +OMIM:609233 skos:exactMatch UMLS:C1425805 Unspecified NUDT13 +OMIM:609233 skos:exactMatch HGNC_symbol:NUDT13 Unspecified NUDT13 +OMIM:600884 skos:exactMatch UMLS:C0340427 Unspecified cardiomyopathy, dilated, 1b +OMIM:609239 skos:exactMatch UMLS:C1423550 Unspecified LPAR6 +OMIM:609239 skos:exactMatch HGNC:15520 Unspecified LPAR6 +OMIM:609239 skos:exactMatch HGNC_symbol:LPAR6 Unspecified LPAR6 +OMIM:600883 skos:exactMatch UMLS:C1833218 Unspecified iia 1 diabetes mellitus 8 +OMIM:600882 skos:exactMatch UMLS:C1833219 Unspecified charcot-marie-tooth disease, axonal, iia 2b +OMIM:609238 skos:exactMatch HGNC:24663 Unspecified RABGAP1L +OMIM:609238 skos:exactMatch UMLS:C1538773 Unspecified RABGAP1L +OMIM:609238 skos:exactMatch HGNC_symbol:RABGAP1L Unspecified RABGAP1L +OMIM:609237 skos:exactMatch UMLS:C1428754 Unspecified IQCB1 +OMIM:609237 skos:exactMatch HGNC:28949 Unspecified IQCB1 +OMIM:609237 skos:exactMatch HGNC_symbol:IQCB1 Unspecified IQCB1 +OMIM:600881 skos:exactMatch UMLS:C1833229 Unspecified cataract 10, multiple types +OMIM:600881 skos:exactMatch ORPHA:91492 Unspecified cataract 10, multiple types +OMIM:600881 skos:exactMatch ORPHA:441452 Unspecified cataract 10, multiple types +OMIM:600881 skos:exactMatch ORPHA:98985 Unspecified cataract 10, multiple types +OMIM:600881 skos:exactMatch ORPHA:98991 Unspecified cataract 10, multiple types +OMIM:600881 skos:exactMatch ORPHA:98993 Unspecified cataract 10, multiple types +OMIM:609219 skos:exactMatch UMLS:C1426725 Unspecified NUDT14 +OMIM:609219 skos:exactMatch HGNC_symbol:NUDT14 Unspecified NUDT14 +OMIM:609219 skos:exactMatch HGNC:20141 Unspecified NUDT14 +OMIM:610207 skos:exactMatch UMLS:C1420199 Unspecified SLC4A9 +OMIM:610207 skos:exactMatch HGNC_symbol:SLC4A9 Unspecified SLC4A9 +OMIM:610207 skos:exactMatch HGNC:11035 Unspecified SLC4A9 +OMIM:610206 skos:exactMatch HGNC_symbol:SLC4A11 Unspecified SLC4A11 +OMIM:610206 skos:exactMatch HGNC:16438 Unspecified SLC4A11 +OMIM:610206 skos:exactMatch UMLS:C1424279 Unspecified SLC4A11 +OMIM:610209 skos:exactMatch UMLS:C1857751 Unspecified migraine with or without aura, susceptibility to, 11 +OMIM:612868 skos:exactMatch UMLS:C2748502 Unspecified corneal dystrophy, posterior amorphous +OMIM:610208 skos:exactMatch UMLS:C1857752 Unspecified migraine with or without aura, susceptibility to, 10 +OMIM:612869 skos:exactMatch HGNC:29063 Unspecified ATRNL1 +OMIM:612869 skos:exactMatch UMLS:C1428783 Unspecified ATRNL1 +OMIM:612869 skos:exactMatch HGNC_symbol:ATRNL1 Unspecified ATRNL1 +OMIM:612866 skos:exactMatch UMLS:C5436652 Unspecified ALG14 +OMIM:612866 skos:exactMatch UMLS:C5436646 Unspecified ALG14 +OMIM:612866 skos:exactMatch UMLS:C1823173 Unspecified ALG14 +OMIM:612866 skos:exactMatch HGNC:28287 Unspecified ALG14 +OMIM:612866 skos:exactMatch UMLS:C4015596 Unspecified ALG14 +OMIM:612866 skos:exactMatch HGNC_symbol:ALG14 Unspecified ALG14 +OMIM:610203 skos:exactMatch UMLS:C1824792 Unspecified CRIPAK +OMIM:610202 skos:exactMatch UMLS:C3888097 Unspecified cataract 21, multiple types +OMIM:610202 skos:exactMatch ORPHA:91492 Unspecified cataract 21, multiple types +OMIM:610202 skos:exactMatch UMLS:C1857768 Unspecified cataract 21, multiple types +OMIM:612867 skos:exactMatch UMLS:C2748503 Unspecified corneal dystrophy, subepithelial mucinous +OMIM:610205 skos:exactMatch UMLS:C1857761 Unspecified alagille syndrome 2 +OMIM:612864 skos:exactMatch UMLS:C1428923 Unspecified PLA2G4D +OMIM:612864 skos:exactMatch HGNC:30038 Unspecified PLA2G4D +OMIM:612864 skos:exactMatch HGNC_symbol:PLA2G4D Unspecified PLA2G4D +OMIM:610204 skos:exactMatch UMLS:C1857762 Unspecified pontocerebellar hypoplasia, iia 5 +OMIM:612865 skos:exactMatch UMLS:C1428738 Unspecified PIP5KL1 +OMIM:612865 skos:exactMatch HGNC:28711 Unspecified PIP5KL1 +OMIM:612865 skos:exactMatch HGNC_symbol:PIP5KL1 Unspecified PIP5KL1 +OMIM:612862 skos:exactMatch UMLS:C2748504 Unspecified pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to +OMIM:612863 skos:exactMatch UMLS:C3150215 Unspecified chromosome 6q24-q25 deletion syndrome +OMIM:610201 skos:exactMatch HGNC:21107 Unspecified CEP162 +OMIM:610201 skos:exactMatch HGNC_symbol:CEP162 Unspecified CEP162 +OMIM:610201 skos:exactMatch UMLS:C1825676 Unspecified CEP162 +OMIM:612860 skos:exactMatch HGNC_symbol:QSOX2 Unspecified QSOX2 +OMIM:612860 skos:exactMatch UMLS:C1428946 Unspecified QSOX2 +OMIM:612860 skos:exactMatch HGNC:30249 Unspecified QSOX2 +OMIM:610200 skos:exactMatch HGNC:14278 Unspecified MRPL13 +OMIM:610200 skos:exactMatch HGNC_symbol:MRPL13 Unspecified MRPL13 +OMIM:610200 skos:exactMatch UMLS:C1422537 Unspecified MRPL13 +OMIM:612861 skos:exactMatch UMLS:C2678520 Unspecified NOP16 +OMIM:612861 skos:exactMatch HGNC:26934 Unspecified NOP16 +OMIM:612861 skos:exactMatch HGNC_symbol:NOP16 Unspecified NOP16 +OMIM:612870 skos:exactMatch HGNC:15673 Unspecified PHIP +OMIM:612870 skos:exactMatch HGNC_symbol:PHIP Unspecified PHIP +OMIM:612870 skos:exactMatch UMLS:C1423647 Unspecified PHIP +OMIM:609221 skos:exactMatch UMLS:C1826354 Unspecified NAT10 +OMIM:609221 skos:exactMatch HGNC:29830 Unspecified NAT10 +OMIM:609221 skos:exactMatch HGNC_symbol:NAT10 Unspecified NAT10 +OMIM:609220 skos:exactMatch UMLS:C1836602 Unspecified bruck syndrome 2 +OMIM:600899 skos:exactMatch HGNC:9413 Unspecified PRKDC +OMIM:600899 skos:exactMatch UMLS:C1335262 Unspecified PRKDC +OMIM:600899 skos:exactMatch UMLS:C4016699 Unspecified PRKDC +OMIM:600899 skos:exactMatch UMLS:C4016698 Unspecified PRKDC +OMIM:600899 skos:exactMatch HGNC_symbol:PRKDC Unspecified PRKDC +OMIM:609225 skos:exactMatch HGNC_symbol:WIPI2 Unspecified WIPI2 +OMIM:609225 skos:exactMatch HGNC:32225 Unspecified WIPI2 +OMIM:609225 skos:exactMatch UMLS:C1823860 Unspecified WIPI2 +OMIM:609224 skos:exactMatch HGNC_symbol:WIPI1 Unspecified WIPI1 +OMIM:609224 skos:exactMatch UMLS:C1836583 Unspecified WIPI1 +OMIM:609224 skos:exactMatch HGNC:25471 Unspecified WIPI1 +OMIM:600898 skos:exactMatch HGNC_symbol:SOX11 Unspecified SOX11 +OMIM:600898 skos:exactMatch HGNC:11191 Unspecified SOX11 +OMIM:600898 skos:exactMatch UMLS:C4014528 Unspecified SOX11 +OMIM:600898 skos:exactMatch UMLS:C1420318 Unspecified SOX11 +OMIM:609223 skos:exactMatch UMLS:C1836584 Unspecified spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger iia +OMIM:600897 skos:exactMatch HGNC:4281 Unspecified GJA8 +OMIM:600897 skos:exactMatch HGNC_symbol:GJA8 Unspecified GJA8 +OMIM:600897 skos:exactMatch UMLS:C1415075 Unspecified GJA8 +OMIM:609222 skos:exactMatch UMLS:C2674987 Unspecified dandy-walker malformation with occipital cephalocele, autosomal dominant +OMIM:600896 skos:exactMatch HGNC_symbol:UTS2R Unspecified GPR14 +OMIM:600896 skos:exactMatch HGNC:4468 Unspecified GPR14 +OMIM:600896 skos:exactMatch UMLS:C1540171 Unspecified GPR14 +OMIM:609229 skos:exactMatch HGNC_symbol:NUDT4 Unspecified NUDT4 +OMIM:609229 skos:exactMatch UMLS:C1417882 Unspecified NUDT4 +OMIM:609229 skos:exactMatch HGNC:8051 Unspecified NUDT4 +OMIM:600895 skos:exactMatch HGNC:4464 Unspecified PRLHR +OMIM:600895 skos:exactMatch HGNC_symbol:PRLHR Unspecified PRLHR +OMIM:600895 skos:exactMatch UMLS:C1826696 Unspecified PRLHR +OMIM:609228 skos:exactMatch HGNC_symbol:NUDT3 Unspecified NUDT3 +OMIM:609228 skos:exactMatch UMLS:C1417881 Unspecified NUDT3 +OMIM:609228 skos:exactMatch HGNC:8050 Unspecified NUDT3 +OMIM:609227 skos:exactMatch UMLS:C1836573 Unspecified griscelli syndrome, iia 3 +OMIM:609226 skos:exactMatch UMLS:C1538089 Unspecified WDR45B +OMIM:609226 skos:exactMatch HGNC_symbol:WDR45B Unspecified WDR45B +OMIM:609226 skos:exactMatch HGNC:25072 Unspecified WDR45B +OMIM:600892 skos:exactMatch HGNC_symbol:SIM2 Unspecified SIM2 +OMIM:600892 skos:exactMatch UMLS:C1420068 Unspecified SIM2 +OMIM:600892 skos:exactMatch HGNC:10883 Unspecified SIM2 +OMIM:609209 skos:exactMatch HGNC_symbol:IVNS1ABP Unspecified IVNS1ABP +OMIM:609209 skos:exactMatch HGNC:16951 Unspecified IVNS1ABP +OMIM:609209 skos:exactMatch UMLS:C1424660 Unspecified IVNS1ABP +OMIM:609209 skos:exactMatch UMLS:C5436501 Unspecified IVNS1ABP +OMIM:609208 skos:exactMatch HGNC:25460 Unspecified KAZALD1 +OMIM:609208 skos:exactMatch HGNC_symbol:KAZALD1 Unspecified KAZALD1 +OMIM:609208 skos:exactMatch UMLS:C1537434 Unspecified KAZALD1 +OMIM:612859 skos:exactMatch HGNC_symbol:TIGIT Unspecified TIGIT +OMIM:612859 skos:exactMatch UMLS:C1823649 Unspecified TIGIT +OMIM:612859 skos:exactMatch HGNC:26838 Unspecified TIGIT +OMIM:270550 skos:exactMatch UMLS:C1849140 Unspecified spastic ataxia, charlevoix-saguenay iia +OMIM:612857 skos:exactMatch HGNC:19255 Unspecified PLAC9 +OMIM:612857 skos:exactMatch HGNC_symbol:PLAC9 Unspecified PLAC9 +OMIM:612857 skos:exactMatch UMLS:C1426120 Unspecified PLAC9 +OMIM:612858 skos:exactMatch UMLS:C2748505 Unspecified orofacial cleft 12 +OMIM:612855 skos:exactMatch HGNC_symbol:SEC16B Unspecified SEC16B +OMIM:612855 skos:exactMatch UMLS:C1825931 Unspecified SEC16B +OMIM:612855 skos:exactMatch HGNC:30301 Unspecified SEC16B +OMIM:612856 skos:exactMatch HGNC:17021 Unspecified ASTN2 +OMIM:612856 skos:exactMatch HGNC_symbol:ASTN2 Unspecified ASTN2 +OMIM:612856 skos:exactMatch UMLS:C1424691 Unspecified ASTN2 +OMIM:612853 skos:exactMatch UMLS:C2748506 Unspecified restless legs syndrome, susceptibility to, 7 +OMIM:612854 skos:exactMatch HGNC_symbol:SEC16A Unspecified SEC16A +OMIM:612854 skos:exactMatch HGNC:29006 Unspecified SEC16A +OMIM:612854 skos:exactMatch UMLS:C2239919 Unspecified SEC16A +OMIM:612851 skos:exactMatch UMLS:C2748508 Unspecified narcolepsy 5, susceptibility to +OMIM:612852 skos:exactMatch UMLS:C2748507 Unspecified osteomyelitis, sterile multifocal, with periostitis and pustulosis +OMIM:612850 skos:exactMatch UMLS:C1823553 Unspecified TUBB2B +OMIM:612850 skos:exactMatch HGNC:30829 Unspecified TUBB2B +OMIM:612850 skos:exactMatch HGNC_symbol:TUBB2B Unspecified TUBB2B +OMIM:609210 skos:exactMatch HGNC:2039 Unspecified CLDN18 +OMIM:609210 skos:exactMatch UMLS:C1413467 Unspecified CLDN18 +OMIM:609210 skos:exactMatch HGNC_symbol:CLDN18 Unspecified CLDN18 +OMIM:600869 skos:exactMatch UMLS:C1333700 Unspecified GRK6 +OMIM:600869 skos:exactMatch HGNC:4545 Unspecified GRK6 +OMIM:600869 skos:exactMatch HGNC_symbol:GRK6 Unspecified GRK6 +OMIM:600868 skos:exactMatch HGNC_symbol:SSR1 Unspecified SSR1 +OMIM:600868 skos:exactMatch HGNC:11323 Unspecified SSR1 +OMIM:600868 skos:exactMatch UMLS:C1420428 Unspecified SSR1 +OMIM:600867 skos:exactMatch HGNC_symbol:SSR2 Unspecified SSR2 +OMIM:600867 skos:exactMatch HGNC:11324 Unspecified SSR2 +OMIM:600867 skos:exactMatch UMLS:C1420429 Unspecified SSR2 +OMIM:600866 skos:exactMatch UMLS:C1418403 Unspecified PDCD2 +OMIM:600866 skos:exactMatch HGNC_symbol:PDCD2 Unspecified PDCD2 +OMIM:600866 skos:exactMatch HGNC:8762 Unspecified PDCD2 +OMIM:609214 skos:exactMatch UMLS:C1424679 Unspecified SEC61B +OMIM:609214 skos:exactMatch HGNC_symbol:SEC61B Unspecified SEC61B +OMIM:609214 skos:exactMatch HGNC:16993 Unspecified SEC61B +OMIM:600865 skos:exactMatch HGNC_symbol:RTN1 Unspecified RTN1 +OMIM:600865 skos:exactMatch HGNC:10467 Unspecified RTN1 +OMIM:600865 skos:exactMatch UMLS:C1335653 Unspecified RTN1 +OMIM:609213 skos:exactMatch HGNC:18276 Unspecified SEC61A1 +OMIM:609213 skos:exactMatch UMLS:C1425414 Unspecified SEC61A1 +OMIM:609213 skos:exactMatch HGNC_symbol:SEC61A1 Unspecified SEC61A1 +OMIM:609212 skos:exactMatch HGNC_symbol:ASRGL1 Unspecified ASRGL1 +OMIM:609212 skos:exactMatch HGNC:16448 Unspecified ASRGL1 +OMIM:609212 skos:exactMatch UMLS:C1424288 Unspecified ASRGL1 +OMIM:600864 skos:exactMatch HGNC:2452 Unspecified CSNK1D +OMIM:600864 skos:exactMatch HGNC_symbol:CSNK1D Unspecified CSNK1D +OMIM:600864 skos:exactMatch UMLS:C1413755 Unspecified CSNK1D +OMIM:600863 skos:exactMatch HGNC:2453 Unspecified CSNK1E +OMIM:600863 skos:exactMatch HGNC_symbol:CSNK1E Unspecified CSNK1E +OMIM:600863 skos:exactMatch UMLS:C1413756 Unspecified CSNK1E +OMIM:609211 skos:exactMatch HGNC:29827 Unspecified MYL12B +OMIM:609211 skos:exactMatch UMLS:C1836604 Unspecified MYL12B +OMIM:609211 skos:exactMatch HGNC_symbol:MYL12B Unspecified MYL12B +OMIM:609218 skos:exactMatch UMLS:C3807873 Unspecified foveal hypoplasia 2 +OMIM:600862 skos:exactMatch UMLS:C1415715 Unspecified AGFG1 +OMIM:600862 skos:exactMatch HGNC_symbol:AGFG1 Unspecified AGFG1 +OMIM:600862 skos:exactMatch HGNC:5175 Unspecified AGFG1 +OMIM:609217 skos:exactMatch HGNC_symbol:SPIRE2 Unspecified SPIRE2 +OMIM:609217 skos:exactMatch HGNC:30623 Unspecified SPIRE2 +OMIM:609217 skos:exactMatch UMLS:C1539845 Unspecified SPIRE2 +OMIM:600861 skos:exactMatch UMLS:C1335616 Unspecified RGS2 +OMIM:600861 skos:exactMatch HGNC:9998 Unspecified RGS2 +OMIM:600861 skos:exactMatch HGNC_symbol:RGS2 Unspecified RGS2 +OMIM:600860 skos:exactMatch HGNC:4662 Unspecified GTF3A +OMIM:600860 skos:exactMatch UMLS:C1415350 Unspecified GTF3A +OMIM:600860 skos:exactMatch HGNC_symbol:GTF3A Unspecified GTF3A +OMIM:609216 skos:exactMatch HGNC:30622 Unspecified SPIRE1 +OMIM:609216 skos:exactMatch UMLS:C1539844 Unspecified SPIRE1 +OMIM:609216 skos:exactMatch HGNC_symbol:SPIRE1 Unspecified SPIRE1 +OMIM:609215 skos:exactMatch HGNC:18277 Unspecified SEC61G +OMIM:609215 skos:exactMatch HGNC_symbol:SEC61G Unspecified SEC61G +OMIM:609215 skos:exactMatch UMLS:C1425415 Unspecified SEC61G +OMIM:600880 skos:exactMatch UMLS:C0546323 Unspecified budd-chiari syndrome +OMIM:600880 skos:exactMatch UMLS:C0856761 Unspecified budd-chiari syndrome +OMIM:612848 skos:exactMatch UMLS:C2748512 Unspecified SDHAF1 +OMIM:612848 skos:exactMatch HGNC:33867 Unspecified SDHAF1 +OMIM:612848 skos:exactMatch HGNC_symbol:SDHAF1 Unspecified SDHAF1 +OMIM:612849 skos:exactMatch HGNC:20075 Unspecified USP46 +OMIM:612849 skos:exactMatch HGNC_symbol:USP46 Unspecified USP46 +OMIM:612849 skos:exactMatch UMLS:C1426663 Unspecified USP46 +OMIM:612846 skos:exactMatch UMLS:C1428976 Unspecified SENP7 +OMIM:612846 skos:exactMatch HGNC_symbol:SENP7 Unspecified SENP7 +OMIM:612846 skos:exactMatch HGNC:30402 Unspecified SENP7 +OMIM:612847 skos:exactMatch UMLS:C2748515 Unspecified brachyolmia iia 4 with mild epiphyseal and metaphyseal changes +OMIM:612844 skos:exactMatch HGNC:17862 Unspecified SENP3 +OMIM:612844 skos:exactMatch UMLS:C1425138 Unspecified SENP3 +OMIM:612844 skos:exactMatch HGNC_symbol:SENP3 Unspecified SENP3 +OMIM:612845 skos:exactMatch UMLS:C1428705 Unspecified SENP5 +OMIM:612845 skos:exactMatch HGNC:28407 Unspecified SENP5 +OMIM:612845 skos:exactMatch HGNC_symbol:SENP5 Unspecified SENP5 +OMIM:612842 skos:exactMatch HGNC:18229 Unspecified RASD2 +OMIM:612842 skos:exactMatch UMLS:C1425383 Unspecified RASD2 +OMIM:612842 skos:exactMatch HGNC_symbol:RASD2 Unspecified RASD2 +OMIM:612843 skos:exactMatch UMLS:C2748527 Unspecified keratosis follicularis spinulosa decalvans, autosomal dominant +OMIM:612840 skos:exactMatch UMLS:C2748536 Unspecified leukocyte adhesion deficiency, iia 3 +OMIM:612841 skos:exactMatch ORPHA:444 Unspecified hypotrichosis 5 +OMIM:612841 skos:exactMatch UMLS:C2748535 Unspecified hypotrichosis 5 +OMIM:600879 skos:exactMatch UMLS:C1417846 Unspecified NRF1 +OMIM:600879 skos:exactMatch HGNC_symbol:NRF1 Unspecified NRF1 +OMIM:600879 skos:exactMatch HGNC:7996 Unspecified NRF1 +OMIM:600877 skos:exactMatch UMLS:C1416588 Unspecified KCNJ6 +OMIM:600877 skos:exactMatch HGNC_symbol:KCNJ6 Unspecified KCNJ6 +OMIM:600877 skos:exactMatch HGNC:6267 Unspecified KCNJ6 +OMIM:609203 skos:exactMatch HGNC_symbol:CLDN23 Unspecified CLDN23 +OMIM:609203 skos:exactMatch UMLS:C1539084 Unspecified CLDN23 +OMIM:609203 skos:exactMatch HGNC:17591 Unspecified CLDN23 +OMIM:609202 skos:exactMatch UMLS:C1424652 Unspecified SCGN +OMIM:609202 skos:exactMatch HGNC_symbol:SCGN Unspecified SCGN +OMIM:609202 skos:exactMatch HGNC:16941 Unspecified SCGN +OMIM:600876 skos:exactMatch UMLS:C1823141 Unspecified STX3 +OMIM:600876 skos:exactMatch HGNC_symbol:STX3 Unspecified STX3 +OMIM:600876 skos:exactMatch HGNC:11438 Unspecified STX3 +OMIM:609201 skos:exactMatch HGNC_symbol:UBASH3B Unspecified UBASH3B +OMIM:609201 skos:exactMatch HGNC:29884 Unspecified UBASH3B +OMIM:609201 skos:exactMatch UMLS:C1836606 Unspecified UBASH3B +OMIM:600875 skos:exactMatch HGNC:179 Unspecified ACYP1 +OMIM:600875 skos:exactMatch UMLS:C1412175 Unspecified ACYP1 +OMIM:600875 skos:exactMatch HGNC_symbol:ACYP1 Unspecified ACYP1 +OMIM:609200 skos:exactMatch UMLS:C3714934 Unspecified myopathy, myofibrillar, 3 +OMIM:600874 skos:exactMatch HGNC_symbol:GNG5 Unspecified GNG5 +OMIM:600874 skos:exactMatch UMLS:C1415158 Unspecified GNG5 +OMIM:600874 skos:exactMatch HGNC:4408 Unspecified GNG5 +OMIM:609207 skos:exactMatch HGNC_symbol:MREG Unspecified MREG +OMIM:609207 skos:exactMatch HGNC:25478 Unspecified MREG +OMIM:609207 skos:exactMatch UMLS:C1826278 Unspecified MREG +OMIM:600873 skos:exactMatch HGNC:2496 Unspecified CTBS +OMIM:600873 skos:exactMatch UMLS:C1413789 Unspecified CTBS +OMIM:600873 skos:exactMatch HGNC_symbol:CTBS Unspecified CTBS +OMIM:609206 skos:exactMatch HGNC:3212 Unspecified EEF1E1 +OMIM:609206 skos:exactMatch HGNC_symbol:EEF1E1 Unspecified EEF1E1 +OMIM:609206 skos:exactMatch UMLS:C1414293 Unspecified EEF1E1 +OMIM:600871 skos:exactMatch UMLS:C2751288 Unspecified GFI1 +OMIM:600871 skos:exactMatch UMLS:C1415044 Unspecified GFI1 +OMIM:600871 skos:exactMatch UMLS:C1842930 Unspecified GFI1 +OMIM:600871 skos:exactMatch HGNC_symbol:GFI1 Unspecified GFI1 +OMIM:600871 skos:exactMatch HGNC:4237 Unspecified GFI1 +OMIM:609205 skos:exactMatch UMLS:C1424881 Unspecified DAB2IP +OMIM:609205 skos:exactMatch HGNC_symbol:DAB2IP Unspecified DAB2IP +OMIM:609205 skos:exactMatch HGNC:17294 Unspecified DAB2IP +OMIM:600870 skos:exactMatch HGNC_symbol:GRK5 Unspecified GRK5 +OMIM:600870 skos:exactMatch UMLS:C1333699 Unspecified GRK5 +OMIM:600870 skos:exactMatch HGNC:4544 Unspecified GRK5 +OMIM:609204 skos:exactMatch UMLS:C1422372 Unspecified None +OMIM:609204 skos:exactMatch HGNC_symbol:MRPS16 Unspecified None +OMIM:609204 skos:exactMatch HGNC:14048 Unspecified None +OMIM:306930 skos:exactMatch UMLS:C1844026 Unspecified hemopoietic proliferation +OMIM:245570 skos:exactMatch UMLS:C3806403 Unspecified epilepsy, focal, with speech disorder and with or without impaired intellectual development +OMIM:245570 skos:exactMatch UMLS:C3806402 Unspecified epilepsy, focal, with speech disorder and with or without impaired intellectual development +OMIM:245570 skos:exactMatch UMLS:C2363129 Unspecified epilepsy, focal, with speech disorder and with or without impaired intellectual development +OMIM:245570 skos:exactMatch UMLS:C0282512 Unspecified epilepsy, focal, with speech disorder and with or without impaired intellectual development +OMIM:245570 skos:exactMatch UMLS:C1832814 Unspecified epilepsy, focal, with speech disorder and with or without impaired intellectual development +OMIM:610137 skos:exactMatch UMLS:C1539868 Unspecified ST6GALNAC2 +OMIM:610137 skos:exactMatch HGNC:10867 Unspecified ST6GALNAC2 +OMIM:610137 skos:exactMatch HGNC_symbol:ST6GALNAC2 Unspecified ST6GALNAC2 +OMIM:610136 skos:exactMatch UMLS:C1857830 Unspecified devriendt syndrome +OMIM:612798 skos:exactMatch UMLS:C2748545 Unspecified question mark ears, isolated +OMIM:610139 skos:exactMatch HGNC:23317 Unspecified ST8SIA6 +OMIM:610139 skos:exactMatch UMLS:C1539878 Unspecified ST8SIA6 +OMIM:610139 skos:exactMatch HGNC_symbol:ST8SIA6 Unspecified ST8SIA6 +OMIM:612799 skos:exactMatch HGNC_symbol:EARS2 Unspecified EARS2 +OMIM:612799 skos:exactMatch UMLS:C1825021 Unspecified EARS2 +OMIM:612799 skos:exactMatch UMLS:C3554079 Unspecified EARS2 +OMIM:612799 skos:exactMatch HGNC:29419 Unspecified EARS2 +OMIM:610138 skos:exactMatch UMLS:C1539867 Unspecified ST6GALNAC1 +OMIM:610138 skos:exactMatch HGNC:23614 Unspecified ST6GALNAC1 +OMIM:610138 skos:exactMatch HGNC_symbol:ST6GALNAC1 Unspecified ST6GALNAC1 +OMIM:610133 skos:exactMatch HGNC:19343 Unspecified ST6GALNAC3 +OMIM:610133 skos:exactMatch UMLS:C1539869 Unspecified ST6GALNAC3 +OMIM:610133 skos:exactMatch HGNC_symbol:ST6GALNAC3 Unspecified ST6GALNAC3 +OMIM:612796 skos:exactMatch UMLS:C2748550 Unspecified inflammatory bowel disease 27 +OMIM:610132 skos:exactMatch UMLS:C1423542 Unspecified VANGL1 +OMIM:610132 skos:exactMatch HGNC_symbol:VANGL1 Unspecified VANGL1 +OMIM:610132 skos:exactMatch HGNC:15512 Unspecified VANGL1 +OMIM:612797 skos:exactMatch UMLS:C2675071 Unspecified high density lipoprotein cholesterol level quantitative trait locus 12 +OMIM:612794 skos:exactMatch UMLS:C2748552 Unspecified atrial septal defect 5 +OMIM:610135 skos:exactMatch UMLS:C1539872 Unspecified ST6GALNAC6 +OMIM:610135 skos:exactMatch HGNC:23364 Unspecified ST6GALNAC6 +OMIM:610135 skos:exactMatch HGNC_symbol:ST6GALNAC6 Unspecified ST6GALNAC6 +OMIM:184095 skos:exactMatch UMLS:C3159322 Unspecified spondyloepiphyseal dysplasia, maroteaux iia +OMIM:612795 skos:exactMatch UMLS:C2748551 Unspecified polyunsaturated fatty acids plasma level quantitative trait locus 1 +OMIM:610134 skos:exactMatch UMLS:C1539871 Unspecified ST6GALNAC5 +OMIM:610134 skos:exactMatch HGNC:19342 Unspecified ST6GALNAC5 +OMIM:610134 skos:exactMatch HGNC_symbol:ST6GALNAC5 Unspecified ST6GALNAC5 +OMIM:610140 skos:exactMatch UMLS:C1857829 Unspecified heart-hand syndrome, slovenian iia +OMIM:609151 skos:exactMatch HGNC:30600 Unspecified UBXN11 +OMIM:609151 skos:exactMatch HGNC_symbol:UBXN11 Unspecified UBXN11 +OMIM:609151 skos:exactMatch UMLS:C1823584 Unspecified UBXN11 +OMIM:609150 skos:exactMatch HGNC_symbol:CXXC1 Unspecified CXXC1 +OMIM:609150 skos:exactMatch HGNC:24343 Unspecified CXXC1 +OMIM:609150 skos:exactMatch UMLS:C1428372 Unspecified CXXC1 +OMIM:610142 skos:exactMatch HGNC:29021 Unspecified CEP290 +OMIM:610142 skos:exactMatch HGNC_symbol:CEP290 Unspecified CEP290 +OMIM:610142 skos:exactMatch UMLS:C1824725 Unspecified CEP290 +OMIM:610141 skos:exactMatch UMLS:C1857828 Unspecified qt interval, variation 1n +OMIM:609155 skos:exactMatch HGNC:24311 Unspecified ASCL4 +OMIM:609155 skos:exactMatch HGNC_symbol:ASCL4 Unspecified ASCL4 +OMIM:609155 skos:exactMatch UMLS:C1540208 Unspecified ASCL4 +OMIM:609154 skos:exactMatch UMLS:C1412576 Unspecified ASCL3 +OMIM:609154 skos:exactMatch HGNC_symbol:ASCL3 Unspecified ASCL3 +OMIM:609154 skos:exactMatch HGNC:740 Unspecified ASCL3 +OMIM:609153 skos:exactMatch UMLS:C1836705 Unspecified pseudohyperkalemia, familial, 2, due to red cell leak +OMIM:609152 skos:exactMatch UMLS:C1836706 Unspecified hyperthyroidism, nonautoimmune +OMIM:257550 skos:exactMatch UMLS:C0543874 Unspecified ocular motor apraxia +OMIM:609159 skos:exactMatch HGNC:25242 Unspecified NOMO3 +OMIM:609159 skos:exactMatch HGNC_symbol:NOMO3 Unspecified NOMO3 +OMIM:609159 skos:exactMatch UMLS:C1538479 Unspecified NOMO3 +OMIM:609158 skos:exactMatch HGNC_symbol:NOMO2 Unspecified NOMO2 +OMIM:609158 skos:exactMatch UMLS:C1538478 Unspecified NOMO2 +OMIM:609158 skos:exactMatch HGNC:22652 Unspecified NOMO2 +OMIM:609157 skos:exactMatch HGNC:30060 Unspecified NOMO1 +OMIM:609157 skos:exactMatch HGNC_symbol:NOMO1 Unspecified NOMO1 +OMIM:609157 skos:exactMatch UMLS:C1538477 Unspecified NOMO1 +OMIM:609156 skos:exactMatch HGNC:26923 Unspecified NCLN +OMIM:609156 skos:exactMatch UMLS:C1538049 Unspecified NCLN +OMIM:609156 skos:exactMatch HGNC_symbol:NCLN Unspecified NCLN +OMIM:610129 skos:exactMatch HGNC_symbol:CHST12 Unspecified CHST12 +OMIM:610129 skos:exactMatch UMLS:C1424961 Unspecified CHST12 +OMIM:610129 skos:exactMatch HGNC:17423 Unspecified CHST12 +OMIM:612789 skos:exactMatch UMLS:C2748554 Unspecified deafness, autosomal recessive 71 +OMIM:610125 skos:exactMatch UMLS:C1864690 Unspecified microphthalmia, syndromic 5 +OMIM:610125 skos:exactMatch UMLS:C4225436 Unspecified microphthalmia, syndromic 5 +OMIM:612787 skos:exactMatch HGNC:26505 Unspecified PUS10 +OMIM:612787 skos:exactMatch UMLS:C2239865 Unspecified PUS10 +OMIM:612787 skos:exactMatch HGNC_symbol:PUS10 Unspecified PUS10 +OMIM:610128 skos:exactMatch HGNC_symbol:CHST11 Unspecified CHST11 +OMIM:610128 skos:exactMatch UMLS:C1424960 Unspecified CHST11 +OMIM:610128 skos:exactMatch HGNC:17422 Unspecified CHST11 +OMIM:612788 skos:exactMatch HGNC_symbol:FOXQ1 Unspecified FOXQ1 +OMIM:612788 skos:exactMatch UMLS:C1427203 Unspecified FOXQ1 +OMIM:612788 skos:exactMatch HGNC:20951 Unspecified FOXQ1 +OMIM:610127 skos:exactMatch UMLS:C1864670 Unspecified ceroid lipofuscinosis, neuronal, 10 +OMIM:610127 skos:exactMatch UMLS:C1864669 Unspecified ceroid lipofuscinosis, neuronal, 10 +OMIM:610122 skos:exactMatch HGNC:24004 Unspecified HTR3D +OMIM:610122 skos:exactMatch UMLS:C1537391 Unspecified HTR3D +OMIM:610122 skos:exactMatch HGNC_symbol:HTR3D Unspecified HTR3D +OMIM:612785 skos:exactMatch UMLS:C2748555 Unspecified megarbane-jalkh syndrome +OMIM:610121 skos:exactMatch HGNC:24003 Unspecified HTR3C +OMIM:610121 skos:exactMatch UMLS:C1537390 Unspecified HTR3C +OMIM:610121 skos:exactMatch HGNC_symbol:HTR3C Unspecified HTR3C +OMIM:612786 skos:exactMatch HGNC:23354 Unspecified CCNY +OMIM:612786 skos:exactMatch UMLS:C1428045 Unspecified CCNY +OMIM:612786 skos:exactMatch HGNC_symbol:CCNY Unspecified CCNY +OMIM:610124 skos:exactMatch HGNC_symbol:CHST13 Unspecified CHST13 +OMIM:610124 skos:exactMatch HGNC:21755 Unspecified CHST13 +OMIM:610124 skos:exactMatch UMLS:C1427744 Unspecified CHST13 +OMIM:612783 skos:exactMatch UMLS:C2748557 Unspecified immunodeficiency 10 +OMIM:610123 skos:exactMatch HGNC:24005 Unspecified HTR3E +OMIM:610123 skos:exactMatch UMLS:C1537392 Unspecified HTR3E +OMIM:610123 skos:exactMatch HGNC_symbol:HTR3E Unspecified HTR3E +OMIM:612784 skos:exactMatch UMLS:C2748556 Unspecified None +OMIM:612784 skos:exactMatch HGNC:18418 Unspecified None +OMIM:612784 skos:exactMatch HGNC_symbol:HYPK Unspecified None +OMIM:612792 skos:exactMatch HGNC_symbol:PTDSS1 Unspecified PTDSS1 +OMIM:612792 skos:exactMatch HGNC:9587 Unspecified PTDSS1 +OMIM:612792 skos:exactMatch UMLS:C1419056 Unspecified PTDSS1 +OMIM:609140 skos:exactMatch UMLS:C1852795 Unspecified corneal dystrophy, posterior polymorphous, 2 +OMIM:612793 skos:exactMatch HGNC_symbol:PTDSS2 Unspecified PTDSS2 +OMIM:612793 skos:exactMatch UMLS:C1456391 Unspecified PTDSS2 +OMIM:612793 skos:exactMatch HGNC:15463 Unspecified PTDSS2 +OMIM:612790 skos:exactMatch UMLS:C2748553 Unspecified ARHGEF28 +OMIM:612790 skos:exactMatch HGNC:30322 Unspecified ARHGEF28 +OMIM:612790 skos:exactMatch HGNC_symbol:ARHGEF28 Unspecified ARHGEF28 +OMIM:610131 skos:exactMatch UMLS:C1864668 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 +OMIM:612791 skos:exactMatch UMLS:C1422236 Unspecified ZKSCAN3 +OMIM:612791 skos:exactMatch HGNC_symbol:ZKSCAN3 Unspecified ZKSCAN3 +OMIM:612791 skos:exactMatch HGNC:13853 Unspecified ZKSCAN3 +OMIM:610130 skos:exactMatch HGNC_symbol:SLC26A1 Unspecified SLC26A1 +OMIM:610130 skos:exactMatch UMLS:C1420161 Unspecified SLC26A1 +OMIM:610130 skos:exactMatch HGNC:10993 Unspecified SLC26A1 +OMIM:609144 skos:exactMatch HGNC_symbol:FLVCR1 Unspecified FLVCR1 +OMIM:609144 skos:exactMatch UMLS:C1836722 Unspecified FLVCR1 +OMIM:609144 skos:exactMatch HGNC:24682 Unspecified FLVCR1 +OMIM:609142 skos:exactMatch HGNC:1815 Unspecified CEACAM3 +OMIM:609142 skos:exactMatch UMLS:C1413307 Unspecified CEACAM3 +OMIM:609142 skos:exactMatch HGNC_symbol:CEACAM3 Unspecified CEACAM3 +OMIM:609141 skos:exactMatch UMLS:C1836724 Unspecified corneal dystrophy, posterior polymorphous, 3 +OMIM:609148 skos:exactMatch UMLS:C1836721 Unspecified malaria, mild, susceptibility to +OMIM:245590 skos:exactMatch UMLS:C5435698 Unspecified growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive +OMIM:245590 skos:exactMatch ORPHA:220465 Unspecified growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive +OMIM:245590 skos:exactMatch UMLS:C1855548 Unspecified growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive +OMIM:609147 skos:exactMatch HGNC_symbol:RIC8B Unspecified RIC8B +OMIM:609147 skos:exactMatch HGNC:25555 Unspecified RIC8B +OMIM:609147 skos:exactMatch UMLS:C1826829 Unspecified RIC8B +OMIM:609146 skos:exactMatch HGNC:29550 Unspecified RIC8A +OMIM:609146 skos:exactMatch HGNC_symbol:RIC8A Unspecified RIC8A +OMIM:609146 skos:exactMatch UMLS:C1826828 Unspecified RIC8A +OMIM:609145 skos:exactMatch HGNC:29866 Unspecified NFASC +OMIM:609145 skos:exactMatch HGNC_symbol:NFASC Unspecified NFASC +OMIM:609145 skos:exactMatch UMLS:C5193049 Unspecified NFASC +OMIM:609145 skos:exactMatch UMLS:C1826398 Unspecified NFASC +OMIM:609149 skos:exactMatch UMLS:C1427914 Unspecified SLC29A4 +OMIM:609149 skos:exactMatch HGNC:23097 Unspecified SLC29A4 +OMIM:609149 skos:exactMatch HGNC_symbol:SLC29A4 Unspecified SLC29A4 +OMIM:600792 skos:exactMatch UMLS:C1833319 Unspecified deafness, autosomal recessive 5 +OMIM:600791 skos:exactMatch UMLS:C3538946 Unspecified deafness, autosomal recessive 4, with enlarged vestibular aqueduct +OMIM:600790 skos:exactMatch UMLS:C1833321 Unspecified chorioretinal atrophy, progressive bifocal +OMIM:245552 skos:exactMatch UMLS:C1855550 Unspecified lambotte syndrome +OMIM:610119 skos:exactMatch HGNC:29943 Unspecified TENM2 +OMIM:610119 skos:exactMatch HGNC_symbol:TENM2 Unspecified TENM2 +OMIM:610119 skos:exactMatch UMLS:C1538510 Unspecified TENM2 +OMIM:245550 skos:exactMatch UMLS:C1855551 Unspecified lambert syndrome +OMIM:610118 skos:exactMatch HGNC_symbol:GPR33 Unspecified GPR33 +OMIM:610118 skos:exactMatch HGNC:4489 Unspecified GPR33 +OMIM:610118 skos:exactMatch UMLS:C1415226 Unspecified GPR33 +OMIM:612778 skos:exactMatch UMLS:C1822686 Unspecified SETD2 +OMIM:612778 skos:exactMatch HGNC_symbol:SETD2 Unspecified SETD2 +OMIM:612778 skos:exactMatch HGNC:18420 Unspecified SETD2 +OMIM:610115 skos:exactMatch HGNC:25525 Unspecified TMEM48 +OMIM:610115 skos:exactMatch HGNC_symbol:NDC1 Unspecified TMEM48 +OMIM:610115 skos:exactMatch UMLS:C1540022 Unspecified TMEM48 +OMIM:612779 skos:exactMatch HGNC_symbol:DPYD Unspecified DPYD +OMIM:612779 skos:exactMatch HGNC:3012 Unspecified DPYD +OMIM:612779 skos:exactMatch UMLS:C1366555 Unspecified DPYD +OMIM:610114 skos:exactMatch UMLS:C1864691 Unspecified stature quantitative trait locus 8 +OMIM:612776 skos:exactMatch UMLS:C2748587 Unspecified hypoglossia with situs inversus +OMIM:612776 skos:exactMatch UMLS:C2748588 Unspecified hypoglossia with situs inversus +OMIM:610117 skos:exactMatch HGNC:14471 Unspecified SLC26A11 +OMIM:610117 skos:exactMatch HGNC_symbol:SLC26A11 Unspecified SLC26A11 +OMIM:610117 skos:exactMatch UMLS:C1422677 Unspecified SLC26A11 +OMIM:610116 skos:exactMatch HGNC:16442 Unspecified P2RY14 +OMIM:610116 skos:exactMatch HGNC_symbol:P2RY14 Unspecified P2RY14 +OMIM:610116 skos:exactMatch UMLS:C1538560 Unspecified P2RY14 +OMIM:612777 skos:exactMatch UMLS:C2748586 Unspecified hypotonia, seizures, and precocious puberty +OMIM:612774 skos:exactMatch UMLS:C1425847 Unspecified TAS2R46 +OMIM:612774 skos:exactMatch HGNC:18877 Unspecified TAS2R46 +OMIM:612774 skos:exactMatch HGNC_symbol:TAS2R46 Unspecified TAS2R46 +OMIM:610111 skos:exactMatch HGNC_symbol:ANO4 Unspecified ANO4 +OMIM:610111 skos:exactMatch HGNC:23837 Unspecified ANO4 +OMIM:610111 skos:exactMatch UMLS:C1428288 Unspecified ANO4 +OMIM:610110 skos:exactMatch HGNC_symbol:ANO3 Unspecified ANO3 +OMIM:610110 skos:exactMatch UMLS:C1422340 Unspecified ANO3 +OMIM:610110 skos:exactMatch HGNC:14004 Unspecified ANO3 +OMIM:612775 skos:exactMatch UMLS:C1423873 Unspecified cone-rod dystrophy 9 +OMIM:612772 skos:exactMatch HGNC_symbol:DUOXA2 Unspecified DUOXA2 +OMIM:612772 skos:exactMatch UMLS:C1824987 Unspecified DUOXA2 +OMIM:612772 skos:exactMatch HGNC:32698 Unspecified DUOXA2 +OMIM:610113 skos:exactMatch UMLS:C1826407 Unspecified ADAMTSL4 +OMIM:610113 skos:exactMatch HGNC:19706 Unspecified ADAMTSL4 +OMIM:610113 skos:exactMatch HGNC_symbol:ADAMTSL4 Unspecified ADAMTSL4 +OMIM:612773 skos:exactMatch HGNC:6722 Unspecified BCAM +OMIM:612773 skos:exactMatch UMLS:C1826415 Unspecified BCAM +OMIM:612773 skos:exactMatch HGNC_symbol:BCAM Unspecified BCAM +OMIM:610112 skos:exactMatch UMLS:C1864692 Unspecified CMIP +OMIM:610112 skos:exactMatch HGNC_symbol:CMIP Unspecified CMIP +OMIM:610112 skos:exactMatch HGNC:24319 Unspecified CMIP +OMIM:612781 skos:exactMatch UMLS:C2748571 Unspecified isolated growth hormone deficiency, iia 1b +OMIM:612782 skos:exactMatch UMLS:C2748568 Unspecified immunodeficiency 9 +OMIM:610120 skos:exactMatch UMLS:C1823520 Unspecified TSPAN33 +OMIM:610120 skos:exactMatch HGNC:28743 Unspecified TSPAN33 +OMIM:610120 skos:exactMatch HGNC_symbol:TSPAN33 Unspecified TSPAN33 +OMIM:612780 skos:exactMatch UMLS:C2748572 Unspecified seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance +OMIM:609133 skos:exactMatch HGNC:25917 Unspecified FIZ1 +OMIM:609133 skos:exactMatch HGNC_symbol:FIZ1 Unspecified FIZ1 +OMIM:609133 skos:exactMatch UMLS:C1825301 Unspecified FIZ1 +OMIM:609132 skos:exactMatch UMLS:C1428785 Unspecified KDM1A +OMIM:609132 skos:exactMatch HGNC_symbol:KDM1A Unspecified KDM1A +OMIM:609132 skos:exactMatch HGNC:29079 Unspecified KDM1A +OMIM:609131 skos:exactMatch UMLS:C1413477 Unspecified CLDN7 +OMIM:609131 skos:exactMatch HGNC_symbol:CLDN7 Unspecified CLDN7 +OMIM:609131 skos:exactMatch HGNC:2049 Unspecified CLDN7 +OMIM:609130 skos:exactMatch UMLS:C1427959 Unspecified CENPS +OMIM:609130 skos:exactMatch HGNC_symbol:CENPS Unspecified CENPS +OMIM:609130 skos:exactMatch HGNC:23163 Unspecified CENPS +OMIM:600789 skos:exactMatch HGNC_symbol:MRPL23 Unspecified RPL23L +OMIM:600789 skos:exactMatch UMLS:C1419646 Unspecified RPL23L +OMIM:600789 skos:exactMatch HGNC:10322 Unspecified RPL23L +OMIM:609137 skos:exactMatch UMLS:C1826951 Unspecified RTP1 +OMIM:609137 skos:exactMatch HGNC:28580 Unspecified RTP1 +OMIM:609137 skos:exactMatch HGNC_symbol:RTP1 Unspecified RTP1 +OMIM:609136 skos:exactMatch UMLS:C1836727 Unspecified peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease +OMIM:600788 skos:exactMatch HGNC:11617 Unspecified ELOC +OMIM:600788 skos:exactMatch UMLS:C1420627 Unspecified ELOC +OMIM:600788 skos:exactMatch HGNC_symbol:ELOC Unspecified ELOC +OMIM:600787 skos:exactMatch HGNC:11619 Unspecified ELOB +OMIM:600787 skos:exactMatch UMLS:C1420629 Unspecified ELOB +OMIM:600787 skos:exactMatch HGNC_symbol:ELOB Unspecified ELOB +OMIM:609135 skos:exactMatch UMLS:C2684859 Unspecified aplastic anemia +OMIM:609135 skos:exactMatch UMLS:C0002874 Unspecified aplastic anemia +OMIM:600786 skos:exactMatch HGNC:11620 Unspecified ELOA +OMIM:600786 skos:exactMatch UMLS:C1420630 Unspecified ELOA +OMIM:600786 skos:exactMatch HGNC_symbol:ELOA Unspecified ELOA +OMIM:609134 skos:exactMatch UMLS:C1540154 Unspecified UBR2 +OMIM:609134 skos:exactMatch HGNC:21289 Unspecified UBR2 +OMIM:609134 skos:exactMatch HGNC_symbol:UBR2 Unspecified UBR2 +OMIM:600785 skos:exactMatch UMLS:C2748783 Unspecified vitamin d-dependent rickets, iia 2b, with normal vitamin d receptor +OMIM:600784 skos:exactMatch HGNC_symbol:GZMK Unspecified GZMK +OMIM:600784 skos:exactMatch HGNC:4711 Unspecified GZMK +OMIM:600784 skos:exactMatch UMLS:C1415382 Unspecified GZMK +OMIM:609139 skos:exactMatch UMLS:C1826793 Unspecified REEP1 +OMIM:609139 skos:exactMatch HGNC:25786 Unspecified REEP1 +OMIM:609139 skos:exactMatch HGNC_symbol:REEP1 Unspecified REEP1 +OMIM:600783 skos:exactMatch HGNC_symbol:HARS2 Unspecified HARS2 +OMIM:600783 skos:exactMatch UMLS:C3554105 Unspecified HARS2 +OMIM:600783 skos:exactMatch HGNC:4817 Unspecified HARS2 +OMIM:600783 skos:exactMatch UMLS:C1415474 Unspecified HARS2 +OMIM:609138 skos:exactMatch UMLS:C1826952 Unspecified RTP2 +OMIM:609138 skos:exactMatch HGNC:32486 Unspecified RTP2 +OMIM:609138 skos:exactMatch HGNC_symbol:RTP2 Unspecified RTP2 +OMIM:600782 skos:exactMatch HGNC:11513 Unspecified SYT5 +OMIM:600782 skos:exactMatch HGNC_symbol:SYT5 Unspecified SYT5 +OMIM:600782 skos:exactMatch UMLS:C1420560 Unspecified SYT5 +OMIM:270500 skos:exactMatch UMLS:C3151619 Unspecified ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation +OMIM:610108 skos:exactMatch HGNC:21625 Unspecified ANO1 +OMIM:610108 skos:exactMatch UMLS:C1427656 Unspecified ANO1 +OMIM:610108 skos:exactMatch HGNC_symbol:ANO1 Unspecified ANO1 +OMIM:610107 skos:exactMatch UMLS:C4540266 Unspecified OSGEP +OMIM:610107 skos:exactMatch HGNC_symbol:OSGEP Unspecified OSGEP +OMIM:610107 skos:exactMatch UMLS:C1425254 Unspecified OSGEP +OMIM:610107 skos:exactMatch HGNC:18028 Unspecified OSGEP +OMIM:612769 skos:exactMatch HGNC_symbol:NEAT1 Unspecified NEAT1 +OMIM:612769 skos:exactMatch HGNC:30815 Unspecified NEAT1 +OMIM:612769 skos:exactMatch UMLS:C2681866 Unspecified NEAT1 +OMIM:610109 skos:exactMatch HGNC:1183 Unspecified ANO2 +OMIM:610109 skos:exactMatch UMLS:C1412880 Unspecified ANO2 +OMIM:610109 skos:exactMatch HGNC_symbol:ANO2 Unspecified ANO2 +OMIM:610104 skos:exactMatch HGNC_symbol:MIR125B1 Unspecified MIR125B1 +OMIM:610104 skos:exactMatch HGNC:31506 Unspecified MIR125B1 +OMIM:610104 skos:exactMatch UMLS:C1537771 Unspecified MIR125B1 +OMIM:612767 skos:exactMatch HGNC:14410 Unspecified DHX36 +OMIM:612767 skos:exactMatch HGNC_symbol:DHX36 Unspecified DHX36 +OMIM:612767 skos:exactMatch UMLS:C1422629 Unspecified DHX36 +OMIM:610103 skos:exactMatch HGNC:30367 Unspecified S100Z +OMIM:610103 skos:exactMatch UMLS:C1539719 Unspecified S100Z +OMIM:610103 skos:exactMatch HGNC_symbol:S100Z Unspecified S100Z +OMIM:612768 skos:exactMatch HGNC_symbol:FNIP2 Unspecified FNIP2 +OMIM:612768 skos:exactMatch UMLS:C2239457 Unspecified FNIP2 +OMIM:612768 skos:exactMatch HGNC:29280 Unspecified FNIP2 +OMIM:610106 skos:exactMatch HGNC:2696 Unspecified DBNL +OMIM:610106 skos:exactMatch UMLS:C1413923 Unspecified DBNL +OMIM:610106 skos:exactMatch HGNC_symbol:DBNL Unspecified DBNL +OMIM:612765 skos:exactMatch HGNC_symbol:SFI1 Unspecified SFI1 +OMIM:612765 skos:exactMatch UMLS:C1539759 Unspecified SFI1 +OMIM:612765 skos:exactMatch HGNC:29064 Unspecified SFI1 +OMIM:610105 skos:exactMatch HGNC_symbol:MIR125B2 Unspecified MIR125B2 +OMIM:610105 skos:exactMatch HGNC:31507 Unspecified MIR125B2 +OMIM:610105 skos:exactMatch UMLS:C1537772 Unspecified MIR125B2 +OMIM:612766 skos:exactMatch HGNC:25008 Unspecified BABAM1 +OMIM:612766 skos:exactMatch HGNC_symbol:BABAM1 Unspecified BABAM1 +OMIM:612766 skos:exactMatch UMLS:C2240326 Unspecified BABAM1 +OMIM:610100 skos:exactMatch UMLS:C4013360 Unspecified giant axonal neuropathy 2, autosomal dominant +OMIM:612763 skos:exactMatch HGNC:30631 Unspecified TADA1L +OMIM:612763 skos:exactMatch HGNC_symbol:TADA1 Unspecified TADA1L +OMIM:612763 skos:exactMatch UMLS:C1823168 Unspecified TADA1L +OMIM:612764 skos:exactMatch UMLS:C2239552 Unspecified ISY1 +OMIM:612764 skos:exactMatch HGNC_symbol:ISY1 Unspecified ISY1 +OMIM:612764 skos:exactMatch HGNC:29201 Unspecified ISY1 +OMIM:610102 skos:exactMatch UMLS:C1864694 Unspecified complement component 7 deficiency +OMIM:610102 skos:exactMatch ORPHA:169150 Unspecified complement component 7 deficiency +OMIM:612761 skos:exactMatch UMLS:C1425496 Unspecified SMARCAD1 +OMIM:612761 skos:exactMatch UMLS:C0406707 Unspecified SMARCAD1 +OMIM:612761 skos:exactMatch UMLS:C0406767 Unspecified SMARCAD1 +OMIM:612761 skos:exactMatch HGNC_symbol:SMARCAD1 Unspecified SMARCAD1 +OMIM:612761 skos:exactMatch HGNC:18398 Unspecified SMARCAD1 +OMIM:612761 skos:exactMatch UMLS:C1852150 Unspecified SMARCAD1 +OMIM:610101 skos:exactMatch UMLS:C1539168 Unspecified CUTC +OMIM:610101 skos:exactMatch HGNC:24271 Unspecified CUTC +OMIM:610101 skos:exactMatch HGNC_symbol:CUTC Unspecified CUTC +OMIM:612762 skos:exactMatch HGNC:30632 Unspecified SUPT7L +OMIM:612762 skos:exactMatch UMLS:C1823153 Unspecified SUPT7L +OMIM:612762 skos:exactMatch HGNC_symbol:SUPT7L Unspecified SUPT7L +OMIM:612770 skos:exactMatch HGNC:8999 Unspecified PISD +OMIM:612770 skos:exactMatch UMLS:C5394404 Unspecified PISD +OMIM:612770 skos:exactMatch UMLS:C1418591 Unspecified PISD +OMIM:612770 skos:exactMatch HGNC_symbol:PISD Unspecified PISD +OMIM:612771 skos:exactMatch HGNC:26507 Unspecified DUOXA1 +OMIM:612771 skos:exactMatch HGNC_symbol:DUOXA1 Unspecified DUOXA1 +OMIM:612771 skos:exactMatch UMLS:C1824986 Unspecified DUOXA1 +OMIM:609122 skos:exactMatch UMLS:C1836757 Unspecified aneurysm, intracranial berry, 3 +OMIM:609121 skos:exactMatch UMLS:C1427998 Unspecified CATSPER4 +OMIM:609121 skos:exactMatch HGNC:23220 Unspecified CATSPER4 +OMIM:609121 skos:exactMatch HGNC_symbol:CATSPER4 Unspecified CATSPER4 +OMIM:609120 skos:exactMatch UMLS:C1427149 Unspecified CATSPER3 +OMIM:609120 skos:exactMatch HGNC:20819 Unspecified CATSPER3 +OMIM:609120 skos:exactMatch HGNC_symbol:CATSPER3 Unspecified CATSPER3 +OMIM:609126 skos:exactMatch HGNC_symbol:ATP9A Unspecified ATP9A +OMIM:609126 skos:exactMatch HGNC:13540 Unspecified ATP9A +OMIM:609126 skos:exactMatch UMLS:C1422050 Unspecified ATP9A +OMIM:600799 skos:exactMatch HGNC_symbol:BMPR2 Unspecified BMPR2 +OMIM:600799 skos:exactMatch UMLS:C1332431 Unspecified BMPR2 +OMIM:600799 skos:exactMatch HGNC:1078 Unspecified BMPR2 +OMIM:609125 skos:exactMatch UMLS:C1428444 Unspecified MOSPD3 +OMIM:609125 skos:exactMatch HGNC:25078 Unspecified MOSPD3 +OMIM:609125 skos:exactMatch HGNC_symbol:MOSPD3 Unspecified MOSPD3 +OMIM:609124 skos:exactMatch HGNC_symbol:ZNF385A Unspecified ZNF385A +OMIM:609124 skos:exactMatch HGNC:17521 Unspecified ZNF385A +OMIM:609124 skos:exactMatch UMLS:C1424990 Unspecified ZNF385A +OMIM:600798 skos:exactMatch UMLS:C1419143 Unspecified NECTIN2 +OMIM:600798 skos:exactMatch HGNC_symbol:NECTIN2 Unspecified NECTIN2 +OMIM:600798 skos:exactMatch HGNC:9707 Unspecified NECTIN2 +OMIM:600797 skos:exactMatch UMLS:C1334141 Unspecified IRS2 +OMIM:600797 skos:exactMatch HGNC:6126 Unspecified IRS2 +OMIM:600797 skos:exactMatch HGNC_symbol:IRS2 Unspecified IRS2 +OMIM:609123 skos:exactMatch HGNC_symbol:ATP8B4 Unspecified ATP8B4 +OMIM:609123 skos:exactMatch HGNC:13536 Unspecified ATP8B4 +OMIM:609123 skos:exactMatch UMLS:C1422046 Unspecified ATP8B4 +OMIM:600796 skos:exactMatch HGNC_symbol:SF3A2 Unspecified SF3A2 +OMIM:600796 skos:exactMatch UMLS:C1419978 Unspecified SF3A2 +OMIM:600796 skos:exactMatch HGNC:10766 Unspecified SF3A2 +OMIM:600795 skos:exactMatch UMLS:C1833296 Unspecified frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +OMIM:609129 skos:exactMatch UMLS:C1836743 Unspecified auditory neuropathy, autosomal dominant 1 +OMIM:600794 skos:exactMatch UMLS:C1833308 Unspecified neuronopathy, distal hereditary motor, iia 5a +OMIM:600794 skos:exactMatch UMLS:C5399969 Unspecified neuronopathy, distal hereditary motor, iia 5a +OMIM:600794 skos:exactMatch ORPHA:139536 Unspecified neuronopathy, distal hereditary motor, iia 5a +OMIM:609128 skos:exactMatch UMLS:C1836756 Unspecified arthrogryposis, distal, iia 4 +OMIM:269500 skos:exactMatch UMLS:C4551483 Unspecified sclerosteosis 1 +OMIM:609191 skos:exactMatch HGNC_symbol:AKIP1 Unspecified AKIP1 +OMIM:609191 skos:exactMatch HGNC:1170 Unspecified AKIP1 +OMIM:609191 skos:exactMatch UMLS:C1412869 Unspecified AKIP1 +OMIM:610177 skos:exactMatch UMLS:C1825622 Unspecified AEN +OMIM:610177 skos:exactMatch HGNC_symbol:AEN Unspecified AEN +OMIM:610177 skos:exactMatch HGNC:25722 Unspecified AEN +OMIM:610176 skos:exactMatch HGNC:18394 Unspecified SCGB1C1 +OMIM:610176 skos:exactMatch HGNC_symbol:SCGB1C1 Unspecified SCGB1C1 +OMIM:610176 skos:exactMatch UMLS:C1539731 Unspecified SCGB1C1 +OMIM:609190 skos:exactMatch HGNC_symbol:ASF1B Unspecified ASF1B +OMIM:609190 skos:exactMatch UMLS:C1427234 Unspecified ASF1B +OMIM:609190 skos:exactMatch HGNC:20996 Unspecified ASF1B +OMIM:610179 skos:exactMatch HGNC_symbol:PLB1 Unspecified PLB1 +OMIM:610179 skos:exactMatch UMLS:C1428925 Unspecified PLB1 +OMIM:610179 skos:exactMatch HGNC:30041 Unspecified PLB1 +OMIM:610178 skos:exactMatch HGNC:19960 Unspecified KIAA0586 +OMIM:610178 skos:exactMatch HGNC_symbol:KIAA0586 Unspecified KIAA0586 +OMIM:610178 skos:exactMatch UMLS:C1426562 Unspecified KIAA0586 +OMIM:610184 skos:exactMatch HGNC_symbol:MOGAT3 Unspecified MOGAT3 +OMIM:610184 skos:exactMatch HGNC:23249 Unspecified MOGAT3 +OMIM:610184 skos:exactMatch UMLS:C1537932 Unspecified MOGAT3 +OMIM:609195 skos:exactMatch UMLS:C1836632 Unspecified spastic paraplegia 26, autosomal recessive +OMIM:610183 skos:exactMatch HGNC:30164 Unspecified ZFAND6 +OMIM:610183 skos:exactMatch UMLS:C1857793 Unspecified ZFAND6 +OMIM:610183 skos:exactMatch HGNC_symbol:ZFAND6 Unspecified ZFAND6 +OMIM:609194 skos:exactMatch UMLS:C1428446 Unspecified CABLES1 +OMIM:609194 skos:exactMatch HGNC_symbol:CABLES1 Unspecified CABLES1 +OMIM:609194 skos:exactMatch HGNC:25097 Unspecified CABLES1 +OMIM:610186 skos:exactMatch HGNC:34434 Unspecified USP17L2 +OMIM:610186 skos:exactMatch UMLS:C1857782 Unspecified USP17L2 +OMIM:610186 skos:exactMatch HGNC_symbol:USP17L2 Unspecified USP17L2 +OMIM:609193 skos:exactMatch HGNC:19742 Unspecified LRR1 +OMIM:609193 skos:exactMatch UMLS:C1426378 Unspecified LRR1 +OMIM:609193 skos:exactMatch HGNC_symbol:LRR1 Unspecified LRR1 +OMIM:610185 skos:exactMatch UMLS:C2750234 Unspecified cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 +OMIM:609192 skos:exactMatch UMLS:C2674127 Unspecified loeys-dietz syndrome 1 +OMIM:609192 skos:exactMatch UMLS:C4551955 Unspecified loeys-dietz syndrome 1 +OMIM:609199 skos:exactMatch UMLS:C1540186 Unspecified ADAMTSL3 +OMIM:609199 skos:exactMatch HGNC_symbol:ADAMTSL3 Unspecified ADAMTSL3 +OMIM:609199 skos:exactMatch HGNC:14633 Unspecified ADAMTSL3 +OMIM:610180 skos:exactMatch HGNC:8510 Unspecified OSTF1 +OMIM:610180 skos:exactMatch HGNC_symbol:OSTF1 Unspecified OSTF1 +OMIM:610180 skos:exactMatch UMLS:C1418192 Unspecified OSTF1 +OMIM:609198 skos:exactMatch UMLS:C1422803 Unspecified ADAMTSL1 +OMIM:609198 skos:exactMatch HGNC_symbol:ADAMTSL1 Unspecified ADAMTSL1 +OMIM:609198 skos:exactMatch HGNC:14632 Unspecified ADAMTSL1 +OMIM:609197 skos:exactMatch UMLS:C1836621 Unspecified glucocorticoid deficiency 3 +OMIM:610182 skos:exactMatch HGNC:15846 Unspecified PALMD +OMIM:610182 skos:exactMatch UMLS:C1423769 Unspecified PALMD +OMIM:610182 skos:exactMatch HGNC_symbol:PALMD Unspecified PALMD +OMIM:609196 skos:exactMatch UMLS:C1537935 Unspecified MRAP +OMIM:609196 skos:exactMatch HGNC:1304 Unspecified MRAP +OMIM:609196 skos:exactMatch HGNC_symbol:MRAP Unspecified MRAP +OMIM:610181 skos:exactMatch UMLS:C3489724 Unspecified aicardi-goutieres syndrome 2 +OMIM:306980 skos:exactMatch UMLS:C1844017 Unspecified hirschsprung disease with iia d brachydactyly +OMIM:610169 skos:exactMatch UMLS:C1857796 Unspecified INO80 +OMIM:610169 skos:exactMatch HGNC_symbol:INO80 Unspecified INO80 +OMIM:610169 skos:exactMatch HGNC:26956 Unspecified INO80 +OMIM:610166 skos:exactMatch UMLS:C1537418 Unspecified IQSEC1 +OMIM:610166 skos:exactMatch HGNC:29112 Unspecified IQSEC1 +OMIM:610166 skos:exactMatch HGNC_symbol:IQSEC1 Unspecified IQSEC1 +OMIM:609180 skos:exactMatch UMLS:C1836669 Unspecified congenital disorder of glycosylation, iia if +OMIM:610165 skos:exactMatch HGNC:20887 Unspecified GTDC1 +OMIM:610165 skos:exactMatch HGNC_symbol:GTDC1 Unspecified GTDC1 +OMIM:610165 skos:exactMatch UMLS:C1539622 Unspecified GTDC1 +OMIM:610168 skos:exactMatch UMLS:C2674574 Unspecified loeys-dietz syndrome 2 +OMIM:610167 skos:exactMatch HGNC_symbol:PHPT1 Unspecified PHPT1 +OMIM:610167 skos:exactMatch UMLS:C1428922 Unspecified PHPT1 +OMIM:610167 skos:exactMatch HGNC:30033 Unspecified PHPT1 +OMIM:609184 skos:exactMatch UMLS:C1416637 Unspecified KIF4B +OMIM:609184 skos:exactMatch HGNC_symbol:KIF4B Unspecified KIF4B +OMIM:609184 skos:exactMatch HGNC:6322 Unspecified KIF4B +OMIM:610173 skos:exactMatch HGNC:31497 Unspecified MIR10A +OMIM:610173 skos:exactMatch UMLS:C1537707 Unspecified MIR10A +OMIM:610173 skos:exactMatch HGNC_symbol:MIR10A Unspecified MIR10A +OMIM:609183 skos:exactMatch UMLS:C1836668 Unspecified AURKAIP1 +OMIM:609183 skos:exactMatch HGNC_symbol:AURKAIP1 Unspecified AURKAIP1 +OMIM:609183 skos:exactMatch HGNC:24114 Unspecified AURKAIP1 +OMIM:610172 skos:exactMatch HGNC:26293 Unspecified SPEF2 +OMIM:610172 skos:exactMatch UMLS:C5231490 Unspecified SPEF2 +OMIM:610172 skos:exactMatch UMLS:C1857794 Unspecified SPEF2 +OMIM:610172 skos:exactMatch HGNC_symbol:SPEF2 Unspecified SPEF2 +OMIM:610175 skos:exactMatch UMLS:C1537779 Unspecified MIR130A +OMIM:610175 skos:exactMatch HGNC:31514 Unspecified MIR130A +OMIM:610175 skos:exactMatch HGNC_symbol:MIR130A Unspecified MIR130A +OMIM:609182 skos:exactMatch UMLS:C1427132 Unspecified SLC35D2 +OMIM:609182 skos:exactMatch HGNC:20799 Unspecified SLC35D2 +OMIM:609182 skos:exactMatch HGNC_symbol:SLC35D2 Unspecified SLC35D2 +OMIM:610174 skos:exactMatch UMLS:C1823583 Unspecified UBTD2 +OMIM:610174 skos:exactMatch HGNC_symbol:UBTD2 Unspecified UBTD2 +OMIM:610174 skos:exactMatch HGNC:24463 Unspecified UBTD2 +OMIM:609181 skos:exactMatch HGNC:3095 Unspecified DYRK4 +OMIM:609181 skos:exactMatch UMLS:C1414208 Unspecified DYRK4 +OMIM:609181 skos:exactMatch HGNC_symbol:DYRK4 Unspecified DYRK4 +OMIM:609188 skos:exactMatch HGNC_symbol:MPLKIP Unspecified MPLKIP +OMIM:609188 skos:exactMatch UMLS:C1423902 Unspecified MPLKIP +OMIM:609188 skos:exactMatch HGNC:16002 Unspecified MPLKIP +OMIM:609188 skos:exactMatch UMLS:C1313961 Unspecified MPLKIP +OMIM:609187 skos:exactMatch UMLS:C1423901 Unspecified SUGCT +OMIM:609187 skos:exactMatch HGNC:16001 Unspecified SUGCT +OMIM:609187 skos:exactMatch UMLS:C0342873 Unspecified SUGCT +OMIM:609187 skos:exactMatch HGNC_symbol:SUGCT Unspecified SUGCT +OMIM:609186 skos:exactMatch HGNC:28358 Unspecified D2HGDH +OMIM:609186 skos:exactMatch UMLS:C1824880 Unspecified D2HGDH +OMIM:609186 skos:exactMatch HGNC_symbol:D2HGDH Unspecified D2HGDH +OMIM:610171 skos:exactMatch HGNC_symbol:CALML6 Unspecified CALML6 +OMIM:610171 skos:exactMatch HGNC:24193 Unspecified CALML6 +OMIM:610171 skos:exactMatch UMLS:C1538433 Unspecified CALML6 +OMIM:609185 skos:exactMatch HGNC:18513 Unspecified ZHX2 +OMIM:609185 skos:exactMatch UMLS:C1425569 Unspecified ZHX2 +OMIM:609185 skos:exactMatch HGNC_symbol:ZHX2 Unspecified ZHX2 +OMIM:610170 skos:exactMatch UMLS:C1857795 Unspecified kyphoscoliosis 1 +OMIM:306990 skos:exactMatch UMLS:C1844016 Unspecified holoprosencephaly with fetal akinesia/hypokinesia sequence +OMIM:609189 skos:exactMatch HGNC_symbol:ASF1A Unspecified ASF1A +OMIM:609189 skos:exactMatch UMLS:C1427233 Unspecified ASF1A +OMIM:609189 skos:exactMatch HGNC:20995 Unspecified ASF1A +OMIM:306955 skos:exactMatch UMLS:C3151867 Unspecified heterotaxy, visceral, 1, X-linked +OMIM:306955 skos:exactMatch UMLS:C1844020 Unspecified heterotaxy, visceral, 1, X-linked +OMIM:306955 skos:exactMatch ORPHA:450 Unspecified heterotaxy, visceral, 1, X-linked +OMIM:306950 skos:exactMatch UMLS:C1844025 Unspecified hernia, anterior diaphragmatic +OMIM:610159 skos:exactMatch HGNC:18316 Unspecified ZNF366 +OMIM:610159 skos:exactMatch HGNC_symbol:ZNF366 Unspecified ZNF366 +OMIM:610159 skos:exactMatch UMLS:C1425443 Unspecified ZNF366 +OMIM:610158 skos:exactMatch UMLS:C1857800 Unspecified corneal dystrophy, fuchs endothelial, 2 +OMIM:610155 skos:exactMatch UMLS:C1857808 Unspecified iia 1 diabetes mellitus 19 +OMIM:610154 skos:exactMatch UMLS:C1857809 Unspecified deafness, autosomal recessive 44 +OMIM:610157 skos:exactMatch UMLS:C1857801 Unspecified heat-shock RNA 1 +OMIM:610156 skos:exactMatch UMLS:C1857802 Unspecified mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome +OMIM:609173 skos:exactMatch HGNC:24054 Unspecified KNL1 +OMIM:609173 skos:exactMatch UMLS:C1834587 Unspecified KNL1 +OMIM:609173 skos:exactMatch HGNC_symbol:KNL1 Unspecified KNL1 +OMIM:609173 skos:exactMatch UMLS:C1539063 Unspecified KNL1 +OMIM:610162 skos:exactMatch UMLS:C1824554 Unspecified CCDC28B +OMIM:610162 skos:exactMatch HGNC:28163 Unspecified CCDC28B +OMIM:610162 skos:exactMatch HGNC_symbol:CCDC28B Unspecified CCDC28B +OMIM:609172 skos:exactMatch HGNC_symbol:PPP1R16A Unspecified PPP1R16A +OMIM:609172 skos:exactMatch UMLS:C1423072 Unspecified PPP1R16A +OMIM:609172 skos:exactMatch HGNC:14941 Unspecified PPP1R16A +OMIM:610161 skos:exactMatch HGNC:15581 Unspecified TFAP2D +OMIM:610161 skos:exactMatch HGNC_symbol:TFAP2D Unspecified TFAP2D +OMIM:610161 skos:exactMatch UMLS:C1539951 Unspecified TFAP2D +OMIM:609171 skos:exactMatch HGNC_symbol:CDC42EP5 Unspecified CDC42EP5 +OMIM:609171 skos:exactMatch UMLS:C1424955 Unspecified CDC42EP5 +OMIM:609171 skos:exactMatch HGNC:17408 Unspecified CDC42EP5 +OMIM:610164 skos:exactMatch HGNC_symbol:MIR134 Unspecified MIRN134 +OMIM:610164 skos:exactMatch UMLS:C1537785 Unspecified MIRN134 +OMIM:610164 skos:exactMatch HGNC:31519 Unspecified MIRN134 +OMIM:609170 skos:exactMatch HGNC:18311 Unspecified TXNDC4 +OMIM:609170 skos:exactMatch UMLS:C1425439 Unspecified TXNDC4 +OMIM:609170 skos:exactMatch HGNC_symbol:ERP44 Unspecified TXNDC4 +OMIM:610163 skos:exactMatch UMLS:C1857798 Unspecified immunodeficiency 25 +OMIM:609177 skos:exactMatch HGNC:13195 Unspecified ZWINT +OMIM:609177 skos:exactMatch UMLS:C1421869 Unspecified ZWINT +OMIM:609177 skos:exactMatch HGNC_symbol:ZWINT Unspecified ZWINT +OMIM:609176 skos:exactMatch HGNC_symbol:PMF1 Unspecified PMF1 +OMIM:609176 skos:exactMatch UMLS:C1418672 Unspecified PMF1 +OMIM:609176 skos:exactMatch HGNC:9112 Unspecified PMF1 +OMIM:609175 skos:exactMatch HGNC_symbol:DSN1 Unspecified DSN1 +OMIM:609175 skos:exactMatch HGNC:16165 Unspecified DSN1 +OMIM:609175 skos:exactMatch UMLS:C1824982 Unspecified DSN1 +OMIM:610160 skos:exactMatch HGNC_symbol:ZNF367 Unspecified ZNF367 +OMIM:610160 skos:exactMatch UMLS:C1425447 Unspecified ZNF367 +OMIM:610160 skos:exactMatch HGNC:18320 Unspecified ZNF367 +OMIM:609174 skos:exactMatch HGNC:24548 Unspecified NSL1 +OMIM:609174 skos:exactMatch UMLS:C1538987 Unspecified NSL1 +OMIM:609174 skos:exactMatch HGNC_symbol:NSL1 Unspecified NSL1 +OMIM:609179 skos:exactMatch UMLS:C1836670 Unspecified migraine with aura, susceptibility to, 7 +OMIM:609178 skos:exactMatch HGNC:24967 Unspecified MIS12 +OMIM:609178 skos:exactMatch UMLS:C1537921 Unspecified MIS12 +OMIM:609178 skos:exactMatch HGNC_symbol:MIS12 Unspecified MIS12 +OMIM:306960 skos:exactMatch UMLS:C1844019 Unspecified hhhh syndrome +OMIM:304300 skos:exactMatch UMLS:C1844681 Unspecified cyanide, inability to smell +OMIM:610148 skos:exactMatch HGNC_symbol:BBS10 Unspecified BBS10 +OMIM:610148 skos:exactMatch UMLS:C1826413 Unspecified BBS10 +OMIM:610148 skos:exactMatch HGNC:26291 Unspecified BBS10 +OMIM:610147 skos:exactMatch HGNC:19680 Unspecified GPBAR1 +OMIM:610147 skos:exactMatch HGNC_symbol:GPBAR1 Unspecified GPBAR1 +OMIM:610147 skos:exactMatch UMLS:C1426330 Unspecified GPBAR1 +OMIM:400050 skos:exactMatch HGNC_symbol:VCY1B Unspecified VCY1B +OMIM:400050 skos:exactMatch HGNC:31751 Unspecified VCY1B +OMIM:610149 skos:exactMatch UMLS:C1857815 Unspecified macular degeneration, age-related, 7 +OMIM:610149 skos:exactMatch UMLS:C1857814 Unspecified macular degeneration, age-related, 7 +OMIM:610149 skos:exactMatch UMLS:C1857813 Unspecified macular degeneration, age-related, 7 +OMIM:610144 skos:exactMatch UMLS:C1823231 Unspecified TBC1D3B +OMIM:610144 skos:exactMatch HGNC:27011 Unspecified TBC1D3B +OMIM:610144 skos:exactMatch HGNC_symbol:TBC1D3B Unspecified TBC1D3B +OMIM:610143 skos:exactMatch UMLS:C1857820 Unspecified deafness, autosomal recessive 62 +OMIM:610146 skos:exactMatch UMLS:C1422385 Unspecified IGF2AS +OMIM:610146 skos:exactMatch HGNC_symbol:IGF2-AS Unspecified IGF2AS +OMIM:610146 skos:exactMatch HGNC:14062 Unspecified IGF2AS +OMIM:610145 skos:exactMatch HGNC_symbol:ECE2 Unspecified ECE2 +OMIM:610145 skos:exactMatch UMLS:C1421917 Unspecified ECE2 +OMIM:610145 skos:exactMatch HGNC:13275 Unspecified ECE2 +OMIM:609162 skos:exactMatch UMLS:C1836683 Unspecified czech dysplasia +OMIM:610151 skos:exactMatch HGNC_symbol:METAP1 Unspecified METAP1 +OMIM:610151 skos:exactMatch HGNC:15789 Unspecified METAP1 +OMIM:610151 skos:exactMatch UMLS:C1423731 Unspecified METAP1 +OMIM:257500 skos:exactMatch UMLS:C0031880 Unspecified obesity-hypoventilation syndrome +OMIM:609161 skos:exactMatch UMLS:C4310808 Unspecified striatal degeneration, autosomal dominant 1 +OMIM:610150 skos:exactMatch HGNC_symbol:CCT5 Unspecified CCT5 +OMIM:610150 skos:exactMatch HGNC:1618 Unspecified CCT5 +OMIM:610150 skos:exactMatch UMLS:C1413197 Unspecified CCT5 +OMIM:400047 skos:exactMatch UMLS:C5193013 Unspecified deafness, Y-linked 2 +OMIM:610153 skos:exactMatch UMLS:C1857811 Unspecified deafness, autosomal recessive 49 +OMIM:400048 skos:exactMatch HGNC:15966 Unspecified DAZ4 +OMIM:400048 skos:exactMatch HGNC_symbol:DAZ4 Unspecified DAZ4 +OMIM:610152 skos:exactMatch HGNC:18352 Unspecified CENPM +OMIM:610152 skos:exactMatch UMLS:C1876178 Unspecified CENPM +OMIM:610152 skos:exactMatch HGNC_symbol:CENPM Unspecified CENPM +OMIM:400045 skos:exactMatch ORPHA:2138 Unspecified 46,xx sex reversal 1 +OMIM:400045 skos:exactMatch ORPHA:393 Unspecified 46,xx sex reversal 1 +OMIM:400045 skos:exactMatch UMLS:C2748895 Unspecified 46,xx sex reversal 1 +OMIM:609166 skos:exactMatch UMLS:C1836673 Unspecified branchiogenic-deafness syndrome +OMIM:609165 skos:exactMatch UMLS:C3665704 Unspecified ichthyosis with confetti +OMIM:609165 skos:exactMatch UMLS:C1836681 Unspecified ichthyosis with confetti +OMIM:400046 skos:exactMatch UMLS:C4310835 Unspecified None +OMIM:400043 skos:exactMatch UMLS:C3888076 Unspecified deafness, Y-linked 1 +OMIM:609164 skos:exactMatch UMLS:C1836682 Unspecified umbilicus, familial flat +OMIM:400044 skos:exactMatch ORPHA:242 Unspecified 46,xy sex reversal 1 +OMIM:400044 skos:exactMatch UMLS:C2748899 Unspecified 46,xy sex reversal 1 +OMIM:400044 skos:exactMatch UMLS:C2748898 Unspecified 46,xy sex reversal 1 +OMIM:400044 skos:exactMatch UMLS:C2748896 Unspecified 46,xy sex reversal 1 +OMIM:609163 skos:exactMatch UMLS:C1539603 Unspecified HCAR2 +OMIM:609163 skos:exactMatch HGNC:24827 Unspecified HCAR2 +OMIM:609163 skos:exactMatch HGNC_symbol:HCAR2 Unspecified HCAR2 +OMIM:609169 skos:exactMatch HGNC:24864 Unspecified GAPDHS +OMIM:609169 skos:exactMatch HGNC_symbol:GAPDHS Unspecified GAPDHS +OMIM:609169 skos:exactMatch UMLS:C1428420 Unspecified GAPDHS +OMIM:609168 skos:exactMatch HGNC_symbol:SGO1 Unspecified SGOL1 +OMIM:609168 skos:exactMatch HGNC:25088 Unspecified SGOL1 +OMIM:609168 skos:exactMatch UMLS:C1428445 Unspecified SGOL1 +OMIM:137700 skos:exactMatch UMLS:C1842030 Unspecified glaucoma with elevated episcleral venous pressure +OMIM:208550 skos:exactMatch UMLS:C1876174 Unspecified asthma, nasal polyps, and aspirin intolerance +OMIM:208550 skos:exactMatch UMLS:C1858067 Unspecified asthma, nasal polyps, and aspirin intolerance +OMIM:208550 skos:exactMatch UMLS:C1859648 Unspecified asthma, nasal polyps, and aspirin intolerance +OMIM:610199 skos:exactMatch UMLS:C1857775 Unspecified diabetes mellitus, neonatal, with congenital hypothyroidism +OMIM:610198 skos:exactMatch UMLS:C1857776 Unspecified 3-methylglutaconic aciduria, iia 5 +OMIM:149700 skos:exactMatch UMLS:C1835612 Unspecified lacrimal duct defect +OMIM:610188 skos:exactMatch UMLS:C1857780 Unspecified joubert syndrome 5 +OMIM:610187 skos:exactMatch UMLS:C1857781 Unspecified diaphragmatic hernia 3 +OMIM:150700 skos:exactMatch UMLS:C1835488 Unspecified leiomyoma of vulva and esophagus +OMIM:610189 skos:exactMatch UMLS:C1857779 Unspecified senior-loken syndrome 6 +OMIM:610195 skos:exactMatch HGNC:9632 Unspecified PTOV1 +OMIM:610195 skos:exactMatch UMLS:C1419088 Unspecified PTOV1 +OMIM:610195 skos:exactMatch HGNC_symbol:PTOV1 Unspecified PTOV1 +OMIM:610194 skos:exactMatch HGNC:28596 Unspecified B3GALNT2 +OMIM:610194 skos:exactMatch UMLS:C1538312 Unspecified B3GALNT2 +OMIM:610194 skos:exactMatch HGNC_symbol:B3GALNT2 Unspecified B3GALNT2 +OMIM:610197 skos:exactMatch UMLS:C2986382 Unspecified MED25 +OMIM:610197 skos:exactMatch HGNC_symbol:MED25 Unspecified MED25 +OMIM:610197 skos:exactMatch HGNC:28845 Unspecified MED25 +OMIM:610197 skos:exactMatch UMLS:C4225323 Unspecified MED25 +OMIM:610197 skos:exactMatch UMLS:C1537681 Unspecified MED25 +OMIM:610197 skos:exactMatch UMLS:C4015968 Unspecified MED25 +OMIM:610196 skos:exactMatch HGNC:28111 Unspecified ELMOD2 +OMIM:610196 skos:exactMatch HGNC_symbol:ELMOD2 Unspecified ELMOD2 +OMIM:610196 skos:exactMatch UMLS:C1539354 Unspecified ELMOD2 +OMIM:610191 skos:exactMatch HGNC_symbol:CHST9 Unspecified CHST9 +OMIM:610191 skos:exactMatch UMLS:C1426513 Unspecified CHST9 +OMIM:610191 skos:exactMatch HGNC:19898 Unspecified CHST9 +OMIM:610190 skos:exactMatch HGNC_symbol:CHST8 Unspecified CHST8 +OMIM:610190 skos:exactMatch HGNC:15993 Unspecified CHST8 +OMIM:610190 skos:exactMatch UMLS:C1423894 Unspecified CHST8 +OMIM:610193 skos:exactMatch UMLS:C1857777 Unspecified arrhythmogenic right ventricular dysplasia, familial, 10 +OMIM:610192 skos:exactMatch HGNC:28510 Unspecified GLIS3 +OMIM:610192 skos:exactMatch UMLS:C1539574 Unspecified GLIS3 +OMIM:610192 skos:exactMatch HGNC_symbol:GLIS3 Unspecified GLIS3 +OMIM:162700 skos:exactMatch UMLS:C3665676 Unspecified neutropenia, chronic familial +OMIM:208500 skos:exactMatch UMLS:C4551856 Unspecified short-rib thoracic dysplasia 1 with or without polydactyly +OMIM:306900 skos:exactMatch UMLS:C0008533 Unspecified hemophilia B +OMIM:137750 skos:exactMatch UMLS:C1842028 Unspecified glaucoma 1, open angle, a +OMIM:137750 skos:exactMatch UMLS:C1825363 Unspecified glaucoma 1, open angle, a +OMIM:149730 skos:exactMatch UMLS:C0265269 Unspecified lacrimoauriculodentodigital syndrome +OMIM:221500 skos:exactMatch UMLS:C1857337 Unspecified deafness, neural, congenital moderate +OMIM:137763 skos:exactMatch UMLS:C1842025 Unspecified glaucoma and sleep apnea +OMIM:137760 skos:exactMatch UMLS:C0339573 Unspecified glaucoma, primary open angle +OMIM:137760 skos:exactMatch UMLS:C1842026 Unspecified glaucoma, primary open angle +OMIM:135100 skos:exactMatch UMLS:C0016037 Unspecified fibrodysplasia ossificans progressiva +OMIM:208530 skos:exactMatch UMLS:C3178806 Unspecified right atrial isomerism +OMIM:208530 skos:exactMatch UMLS:C0175707 Unspecified right atrial isomerism +OMIM:208530 skos:exactMatch ORPHA:97548 Unspecified right atrial isomerism +OMIM:123155 skos:exactMatch UMLS:C1838347 Unspecified hydrocephalus, autosomal dominant +OMIM:174700 skos:exactMatch UMLS:C1868112 Unspecified polydactyly, preaxial 4 +OMIM:174700 skos:exactMatch UMLS:C1868111 Unspecified polydactyly, preaxial 4 +OMIM:123150 skos:exactMatch ORPHA:1540 Unspecified jackson-weiss syndrome +OMIM:123150 skos:exactMatch UMLS:C0795998 Unspecified jackson-weiss syndrome +OMIM:208540 skos:exactMatch UMLS:C3715199 Unspecified renal-hepatic-pancreatic dysplasia 1 +OMIM:149750 skos:exactMatch HGNC_symbol:LALBA Unspecified LALBA +OMIM:149750 skos:exactMatch UMLS:C1442889 Unspecified LALBA +OMIM:149750 skos:exactMatch HGNC:6480 Unspecified LALBA +OMIM:137780 skos:exactMatch UMLS:C1415042 Unspecified GFAP +OMIM:137780 skos:exactMatch HGNC_symbol:GFAP Unspecified GFAP +OMIM:137780 skos:exactMatch HGNC:4235 Unspecified GFAP +OMIM:113450 skos:exactMatch UMLS:C1862092 Unspecified brachydactyly-distal symphalangism syndrome +OMIM:149400 skos:exactMatch UMLS:C1835614 Unspecified hyperekplexia 1 +OMIM:149400 skos:exactMatch ORPHA:3197 Unspecified hyperekplexia 1 +OMIM:149400 skos:exactMatch UMLS:C4551954 Unspecified hyperekplexia 1 +OMIM:150400 skos:exactMatch UMLS:C1835492 Unspecified tooth agenesis, selective, 4 +OMIM:125420 skos:exactMatch UMLS:C0399380 Unspecified dentin dysplasia, iia 2 +OMIM:162400 skos:exactMatch ORPHA:36386 Unspecified neuropathy, hereditary sensory and autonomic, iia 1a +OMIM:162400 skos:exactMatch UMLS:C5235211 Unspecified neuropathy, hereditary sensory and autonomic, iia 1a +OMIM:162400 skos:exactMatch UMLS:C0020071 Unspecified neuropathy, hereditary sensory and autonomic, iia 1a +OMIM:137440 skos:exactMatch ORPHA:356 Unspecified gerstmann-straussler disease +OMIM:137440 skos:exactMatch UMLS:C2931022 Unspecified gerstmann-straussler disease +OMIM:137440 skos:exactMatch UMLS:C0017495 Unspecified gerstmann-straussler disease +OMIM:125400 skos:exactMatch UMLS:C3276551 Unspecified dentin dysplasia, iia 1 +OMIM:125400 skos:exactMatch UMLS:C0399379 Unspecified dentin dysplasia, iia 1 +OMIM:211900 skos:exactMatch ORPHA:306661 Unspecified tumoral calcinosis, hyperphosphatemic, familial, 1 +OMIM:211900 skos:exactMatch UMLS:C4692564 Unspecified tumoral calcinosis, hyperphosphatemic, familial, 1 +OMIM:211900 skos:exactMatch ORPHA:53715 Unspecified tumoral calcinosis, hyperphosphatemic, familial, 1 +OMIM:211900 skos:exactMatch UMLS:C1876187 Unspecified tumoral calcinosis, hyperphosphatemic, familial, 1 +OMIM:612918 skos:exactMatch ORPHA:140944 Unspecified congenital lipomatous overgrowth, vascular malformations, and epidermal nevi +OMIM:612918 skos:exactMatch UMLS:C2752042 Unspecified congenital lipomatous overgrowth, vascular malformations, and epidermal nevi +OMIM:612919 skos:exactMatch HGNC_symbol:LANCL2 Unspecified LANCL2 +OMIM:612919 skos:exactMatch UMLS:C1416796 Unspecified LANCL2 +OMIM:612919 skos:exactMatch HGNC:6509 Unspecified LANCL2 +OMIM:612916 skos:exactMatch UMLS:C2752047 Unspecified zechi-ceide syndrome +OMIM:612917 skos:exactMatch UMLS:C2752043 Unspecified giacheti syndrome +OMIM:612914 skos:exactMatch HGNC_symbol:MED29 Unspecified MED29 +OMIM:612914 skos:exactMatch HGNC:23074 Unspecified MED29 +OMIM:612914 skos:exactMatch UMLS:C1537429 Unspecified MED29 +OMIM:612915 skos:exactMatch HGNC_symbol:MED20 Unspecified MED20 +OMIM:612915 skos:exactMatch HGNC:16840 Unspecified MED20 +OMIM:612915 skos:exactMatch UMLS:C1540052 Unspecified MED20 +OMIM:612912 skos:exactMatch HGNC:28106 Unspecified TMEM97 +OMIM:612912 skos:exactMatch UMLS:C1823357 Unspecified TMEM97 +OMIM:612912 skos:exactMatch HGNC_symbol:TMEM97 Unspecified TMEM97 +OMIM:612913 skos:exactMatch UMLS:C2752048 Unspecified orofaciodigital syndrome 11 +OMIM:612910 skos:exactMatch HGNC:28428 Unspecified PHF23 +OMIM:612910 skos:exactMatch HGNC_symbol:PHF23 Unspecified PHF23 +OMIM:612910 skos:exactMatch UMLS:C1826581 Unspecified PHF23 +OMIM:612911 skos:exactMatch HGNC:29918 Unspecified NDUFAF3 +OMIM:612911 skos:exactMatch HGNC_symbol:NDUFAF3 Unspecified NDUFAF3 +OMIM:612911 skos:exactMatch UMLS:C1824156 Unspecified NDUFAF3 +OMIM:600929 skos:exactMatch HGNC:2397 Unspecified CRYBB1 +OMIM:600929 skos:exactMatch HGNC_symbol:CRYBB1 Unspecified CRYBB1 +OMIM:600929 skos:exactMatch UMLS:C1413729 Unspecified CRYBB1 +OMIM:600928 skos:exactMatch HGNC:14124 Unspecified NPRL3 +OMIM:600928 skos:exactMatch HGNC_symbol:NPRL3 Unspecified NPRL3 +OMIM:600928 skos:exactMatch UMLS:C1422420 Unspecified NPRL3 +OMIM:600927 skos:exactMatch HGNC_symbol:CDKN2D Unspecified CDKN2D +OMIM:600927 skos:exactMatch HGNC:1790 Unspecified CDKN2D +OMIM:600927 skos:exactMatch UMLS:C1413292 Unspecified CDKN2D +OMIM:600926 skos:exactMatch HGNC:9669 Unspecified PTPRE +OMIM:600926 skos:exactMatch UMLS:C1335286 Unspecified PTPRE +OMIM:600926 skos:exactMatch HGNC_symbol:PTPRE Unspecified PTPRE +OMIM:600925 skos:exactMatch UMLS:C3276201 Unspecified PTPRJ +OMIM:600925 skos:exactMatch UMLS:C1335288 Unspecified PTPRJ +OMIM:600925 skos:exactMatch HGNC:9673 Unspecified PTPRJ +OMIM:600925 skos:exactMatch HGNC_symbol:PTPRJ Unspecified PTPRJ +OMIM:600924 skos:exactMatch UMLS:C1415043 Unspecified GFER +OMIM:600924 skos:exactMatch UMLS:C2751320 Unspecified GFER +OMIM:600924 skos:exactMatch HGNC_symbol:GFER Unspecified GFER +OMIM:600924 skos:exactMatch HGNC:4236 Unspecified GFER +OMIM:600923 skos:exactMatch HGNC:9280 Unspecified PPOX +OMIM:600923 skos:exactMatch UMLS:C1418819 Unspecified PPOX +OMIM:600923 skos:exactMatch HGNC_symbol:PPOX Unspecified PPOX +OMIM:174400 skos:exactMatch UMLS:C1395852 Unspecified polydactyly, preaxial 1 +OMIM:174400 skos:exactMatch UMLS:C1846474 Unspecified polydactyly, preaxial 1 +OMIM:600922 skos:exactMatch UMLS:C1608393 Unspecified MYLK +OMIM:600922 skos:exactMatch UMLS:C1334539 Unspecified MYLK +OMIM:600922 skos:exactMatch HGNC:7590 Unspecified MYLK +OMIM:600922 skos:exactMatch HGNC_symbol:MYLK Unspecified MYLK +OMIM:600922 skos:exactMatch UMLS:C3151077 Unspecified MYLK +OMIM:600921 skos:exactMatch UMLS:C2751826 Unspecified FGF9 +OMIM:600921 skos:exactMatch UMLS:C1333540 Unspecified FGF9 +OMIM:600921 skos:exactMatch HGNC_symbol:FGF9 Unspecified FGF9 +OMIM:600921 skos:exactMatch HGNC:3687 Unspecified FGF9 +OMIM:600920 skos:exactMatch UMLS:C1833136 Unspecified van den ende-gupta syndrome +OMIM:612907 skos:exactMatch HGNC:17341 Unspecified TRNT1 +OMIM:612907 skos:exactMatch HGNC_symbol:TRNT1 Unspecified TRNT1 +OMIM:612907 skos:exactMatch UMLS:C1424916 Unspecified TRNT1 +OMIM:186400 skos:exactMatch UMLS:C1876184 Unspecified synostoses, tarsal, carpal, and digital +OMIM:612908 skos:exactMatch UMLS:C1852127 Unspecified keratosis palmoplantaris striata 2 +OMIM:113400 skos:exactMatch UMLS:C1862099 Unspecified brachydactyly-nystagmus-cerebellar ataxia +OMIM:612905 skos:exactMatch UMLS:C1537555 Unspecified LCN12 +OMIM:612905 skos:exactMatch HGNC:28733 Unspecified LCN12 +OMIM:612905 skos:exactMatch HGNC_symbol:LCN12 Unspecified LCN12 +OMIM:612906 skos:exactMatch HGNC_symbol:RAB32 Unspecified RAB32 +OMIM:612906 skos:exactMatch HGNC:9772 Unspecified RAB32 +OMIM:612906 skos:exactMatch UMLS:C1419201 Unspecified RAB32 +OMIM:612903 skos:exactMatch HGNC:17442 Unspecified LCN9 +OMIM:612903 skos:exactMatch HGNC_symbol:LCN9 Unspecified LCN9 +OMIM:612903 skos:exactMatch UMLS:C1537553 Unspecified LCN9 +OMIM:612904 skos:exactMatch UMLS:C1537554 Unspecified LCN10 +OMIM:612904 skos:exactMatch HGNC:20892 Unspecified LCN10 +OMIM:612904 skos:exactMatch HGNC_symbol:LCN10 Unspecified LCN10 +OMIM:612901 skos:exactMatch HGNC:16257 Unspecified TUBB1 +OMIM:612901 skos:exactMatch HGNC_symbol:TUBB1 Unspecified TUBB1 +OMIM:612901 skos:exactMatch UMLS:C1424130 Unspecified TUBB1 +OMIM:612902 skos:exactMatch HGNC_symbol:LCN8 Unspecified LCN8 +OMIM:612902 skos:exactMatch HGNC:27038 Unspecified LCN8 +OMIM:612902 skos:exactMatch UMLS:C1537552 Unspecified LCN8 +OMIM:612900 skos:exactMatch UMLS:C2752061 Unspecified cerebral palsy, spastic quadriplegic, 2 +OMIM:600939 skos:exactMatch HGNC_symbol:IL11RA Unspecified IL11RA +OMIM:600939 skos:exactMatch UMLS:C1334099 Unspecified IL11RA +OMIM:600939 skos:exactMatch HGNC:5967 Unspecified IL11RA +OMIM:600938 skos:exactMatch HGNC_symbol:RBBP6 Unspecified RBBP6 +OMIM:600938 skos:exactMatch HGNC:9889 Unspecified RBBP6 +OMIM:600938 skos:exactMatch UMLS:C1419291 Unspecified RBBP6 +OMIM:600937 skos:exactMatch UMLS:C1416578 Unspecified KCNJ11 +OMIM:600937 skos:exactMatch UMLS:C1864623 Unspecified KCNJ11 +OMIM:600937 skos:exactMatch UMLS:C2931833 Unspecified KCNJ11 +OMIM:600937 skos:exactMatch UMLS:C3837967 Unspecified KCNJ11 +OMIM:600937 skos:exactMatch HGNC_symbol:KCNJ11 Unspecified KCNJ11 +OMIM:600937 skos:exactMatch UMLS:C5394296 Unspecified KCNJ11 +OMIM:600937 skos:exactMatch HGNC:6257 Unspecified KCNJ11 +OMIM:600937 skos:exactMatch UMLS:C3152078 Unspecified KCNJ11 +OMIM:600937 skos:exactMatch UMLS:C5394568 Unspecified KCNJ11 +OMIM:600937 skos:exactMatch UMLS:C4225365 Unspecified KCNJ11 +OMIM:600936 skos:exactMatch HGNC:5012 Unspecified HMMR +OMIM:600936 skos:exactMatch UMLS:C1333919 Unspecified HMMR +OMIM:600936 skos:exactMatch HGNC_symbol:HMMR Unspecified HMMR +OMIM:600935 skos:exactMatch HGNC_symbol:KCNJ8 Unspecified KCNJ8 +OMIM:600935 skos:exactMatch HGNC:6269 Unspecified KCNJ8 +OMIM:600935 skos:exactMatch UMLS:C1416589 Unspecified KCNJ8 +OMIM:600934 skos:exactMatch HGNC_symbol:FOLH1 Unspecified FOLH1 +OMIM:600934 skos:exactMatch UMLS:C1333570 Unspecified FOLH1 +OMIM:600934 skos:exactMatch HGNC:3788 Unspecified FOLH1 +OMIM:600933 skos:exactMatch UMLS:C1414506 Unspecified F2RL1 +OMIM:600933 skos:exactMatch HGNC_symbol:F2RL1 Unspecified F2RL1 +OMIM:600933 skos:exactMatch HGNC:3538 Unspecified F2RL1 +OMIM:600932 skos:exactMatch HGNC_symbol:KCNJ9 Unspecified KCNJ9 +OMIM:600932 skos:exactMatch HGNC:6270 Unspecified KCNJ9 +OMIM:600932 skos:exactMatch UMLS:C1416590 Unspecified KCNJ9 +OMIM:600931 skos:exactMatch UMLS:C1833117 Unspecified protocadherin 3 +OMIM:600930 skos:exactMatch UMLS:C1335859 Unspecified SPAM1 +OMIM:600930 skos:exactMatch HGNC:11217 Unspecified SPAM1 +OMIM:600930 skos:exactMatch HGNC_symbol:SPAM1 Unspecified SPAM1 +OMIM:612909 skos:exactMatch HGNC_symbol:RAB6C Unspecified RAB6C +OMIM:612909 skos:exactMatch HGNC:16525 Unspecified RAB6C +OMIM:612909 skos:exactMatch UMLS:C1424353 Unspecified RAB6C +OMIM:600909 skos:exactMatch HGNC:6708 Unspecified LSS +OMIM:600909 skos:exactMatch UMLS:C4225300 Unspecified LSS +OMIM:600909 skos:exactMatch UMLS:C1416926 Unspecified LSS +OMIM:600909 skos:exactMatch UMLS:C4748930 Unspecified LSS +OMIM:600909 skos:exactMatch HGNC_symbol:LSS Unspecified LSS +OMIM:600909 skos:exactMatch UMLS:C5394241 Unspecified LSS +OMIM:600908 skos:exactMatch UMLS:C1833162 Unspecified kennerknecht syndrome +OMIM:600907 skos:exactMatch UMLS:C1833163 Unspecified enamel hypoplasia, cataracts, and aqueductal stenosis +OMIM:600906 skos:exactMatch UMLS:C1833169 Unspecified ectodermal dysplasia with mental retardation and syndactyly +OMIM:600904 skos:exactMatch UMLS:C1825094 Unspecified ASTN1 +OMIM:600904 skos:exactMatch HGNC:773 Unspecified ASTN1 +OMIM:600904 skos:exactMatch HGNC_symbol:ASTN1 Unspecified ASTN1 +OMIM:600903 skos:exactMatch UMLS:C1833170 Unspecified wiskott-aldrich syndrome, autosomal dominant +OMIM:600902 skos:exactMatch HGNC:19685 Unspecified SEPHS1 +OMIM:600902 skos:exactMatch HGNC_symbol:SEPHS1 Unspecified SEPHS1 +OMIM:600902 skos:exactMatch UMLS:C1426332 Unspecified SEPHS1 +OMIM:600901 skos:exactMatch UMLS:C3160739 Unspecified fanconi anemia, complementation group e +OMIM:600900 skos:exactMatch UMLS:C1420006 Unspecified SGCB +OMIM:600900 skos:exactMatch HGNC:10806 Unspecified SGCB +OMIM:600900 skos:exactMatch HGNC_symbol:SGCB Unspecified SGCB +OMIM:101400 skos:exactMatch UMLS:C1863371 Unspecified saethre-chotzen syndrome +OMIM:101400 skos:exactMatch UMLS:C1863370 Unspecified saethre-chotzen syndrome +OMIM:101400 skos:exactMatch UMLS:C0175699 Unspecified saethre-chotzen syndrome +OMIM:600919 skos:exactMatch UMLS:C1970119 Unspecified cardiac arrhythmia, ankyrin-b-related +OMIM:600919 skos:exactMatch UMLS:C1833154 Unspecified cardiac arrhythmia, ankyrin-b-related +OMIM:600917 skos:exactMatch UMLS:C1418829 Unspecified PPP1R3A +OMIM:600917 skos:exactMatch HGNC_symbol:PPP1R3A Unspecified PPP1R3A +OMIM:600917 skos:exactMatch HGNC:9291 Unspecified PPP1R3A +OMIM:600916 skos:exactMatch UMLS:C1416442 Unspecified INPP4A +OMIM:600916 skos:exactMatch HGNC_symbol:INPP4A Unspecified INPP4A +OMIM:600916 skos:exactMatch HGNC:6074 Unspecified INPP4A +OMIM:600915 skos:exactMatch UMLS:C1417679 Unspecified NES +OMIM:600915 skos:exactMatch HGNC_symbol:NES Unspecified NES +OMIM:600915 skos:exactMatch HGNC:7756 Unspecified NES +OMIM:600914 skos:exactMatch HGNC:10787 Unspecified SRSF5 +OMIM:600914 skos:exactMatch HGNC_symbol:SRSF5 Unspecified SRSF5 +OMIM:600914 skos:exactMatch UMLS:C1419996 Unspecified SRSF5 +OMIM:600912 skos:exactMatch UMLS:C1420635 Unspecified TCF19 +OMIM:600912 skos:exactMatch HGNC_symbol:TCF19 Unspecified TCF19 +OMIM:600912 skos:exactMatch HGNC:11629 Unspecified TCF19 +OMIM:600911 skos:exactMatch HGNC:1180 Unspecified MPPED2 +OMIM:600911 skos:exactMatch UMLS:C1826276 Unspecified MPPED2 +OMIM:600911 skos:exactMatch HGNC_symbol:MPPED2 Unspecified MPPED2 +OMIM:600910 skos:exactMatch UMLS:C1416454 Unspecified INSL4 +OMIM:600910 skos:exactMatch HGNC_symbol:INSL4 Unspecified INSL4 +OMIM:600910 skos:exactMatch HGNC:6087 Unspecified INSL4 +OMIM:609309 skos:exactMatch UMLS:C5436806 Unspecified MSH2 +OMIM:609309 skos:exactMatch HGNC_symbol:MSH2 Unspecified MSH2 +OMIM:609309 skos:exactMatch UMLS:C4017191 Unspecified MSH2 +OMIM:609309 skos:exactMatch HGNC:7325 Unspecified MSH2 +OMIM:609309 skos:exactMatch UMLS:C1321489 Unspecified MSH2 +OMIM:609309 skos:exactMatch UMLS:C2936783 Unspecified MSH2 +OMIM:609309 skos:exactMatch UMLS:C0879290 Unspecified MSH2 +OMIM:609308 skos:exactMatch UMLS:C1836373 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 +OMIM:609308 skos:exactMatch ORPHA:86812 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1 +OMIM:609307 skos:exactMatch UMLS:C1836383 Unspecified spinocerebellar ataxia 27 +OMIM:612958 skos:exactMatch HGNC:24316 Unspecified TACO1 +OMIM:612958 skos:exactMatch HGNC_symbol:TACO1 Unspecified TACO1 +OMIM:612958 skos:exactMatch UMLS:C5436689 Unspecified TACO1 +OMIM:612958 skos:exactMatch UMLS:C1824568 Unspecified TACO1 +OMIM:612959 skos:exactMatch HGNC_symbol:ESRP1 Unspecified ESRP1 +OMIM:612959 skos:exactMatch HGNC:25966 Unspecified ESRP1 +OMIM:612959 skos:exactMatch UMLS:C1826778 Unspecified ESRP1 +OMIM:612956 skos:exactMatch UMLS:C2751829 Unspecified ventricular fibrillation, paroxysmal familial, 2 +OMIM:612956 skos:exactMatch ORPHA:228140 Unspecified ventricular fibrillation, paroxysmal familial, 2 +OMIM:612957 skos:exactMatch UMLS:C2751828 Unspecified vitamin b6 plasma level quantitative trait locus 1 +OMIM:400041 skos:exactMatch UMLS:C1538734 Unspecified PRY2 +OMIM:400041 skos:exactMatch HGNC_symbol:PRY2 Unspecified PRY2 +OMIM:400041 skos:exactMatch HGNC:21504 Unspecified PRY2 +OMIM:612954 skos:exactMatch ORPHA:199340 Unspecified myopathy, myofibrillar, 6 +OMIM:612954 skos:exactMatch UMLS:C2751831 Unspecified myopathy, myofibrillar, 6 +OMIM:400042 skos:exactMatch UMLS:C0028960 Unspecified spermatogenic failure, y-linked, 1 +OMIM:400042 skos:exactMatch UMLS:C1839074 Unspecified spermatogenic failure, y-linked, 1 +OMIM:400042 skos:exactMatch UMLS:C1839075 Unspecified spermatogenic failure, y-linked, 1 +OMIM:400042 skos:exactMatch UMLS:C4551960 Unspecified spermatogenic failure, y-linked, 1 +OMIM:612955 skos:exactMatch UMLS:C2751830 Unspecified long qt syndrome 12 +OMIM:612952 skos:exactMatch UMLS:C2749659 Unspecified aicardi-goutieres syndrome 5 +OMIM:400040 skos:exactMatch HGNC:18841 Unspecified TTTY17 +OMIM:400040 skos:exactMatch UMLS:C1823550 Unspecified TTTY17 +OMIM:400040 skos:exactMatch HGNC_symbol:TTTY17A Unspecified TTTY17 +OMIM:612953 skos:exactMatch UMLS:C2751842 Unspecified parkinson disease 14, autosomal recessive +OMIM:612950 skos:exactMatch UMLS:C2751854 Unspecified psoriasis 12, susceptibility to +OMIM:612951 skos:exactMatch UMLS:C2751843 Unspecified leukoencephalopathy, cystic, without megalencephaly +OMIM:400038 skos:exactMatch UMLS:C1424314 Unspecified TTTY5 +OMIM:400038 skos:exactMatch HGNC_symbol:TTTY5 Unspecified TTTY5 +OMIM:400038 skos:exactMatch HGNC:16482 Unspecified TTTY5 +OMIM:400039 skos:exactMatch UMLS:C1424315 Unspecified TTTY6 +OMIM:400039 skos:exactMatch HGNC_symbol:TTTY6 Unspecified TTTY6 +OMIM:400039 skos:exactMatch HGNC:16483 Unspecified TTTY6 +OMIM:400036 skos:exactMatch UMLS:C1424312 Unspecified TTTY3 +OMIM:400036 skos:exactMatch HGNC_symbol:TTTY3 Unspecified TTTY3 +OMIM:400036 skos:exactMatch HGNC:16480 Unspecified TTTY3 +OMIM:400037 skos:exactMatch UMLS:C1424313 Unspecified TTTY4 +OMIM:400037 skos:exactMatch HGNC_symbol:TTTY4 Unspecified TTTY4 +OMIM:400037 skos:exactMatch HGNC:16481 Unspecified TTTY4 +OMIM:400034 skos:exactMatch HGNC_symbol:CSPG4P1Y Unspecified CSPG4P1Y +OMIM:400034 skos:exactMatch HGNC:16478 Unspecified CSPG4P1Y +OMIM:400034 skos:exactMatch UMLS:C1824806 Unspecified CSPG4P1Y +OMIM:600969 skos:exactMatch UMLS:C3152083 Unspecified epiphyseal dysplasia, multiple, 3 +OMIM:600969 skos:exactMatch UMLS:C1832998 Unspecified epiphyseal dysplasia, multiple, 3 +OMIM:400035 skos:exactMatch UMLS:C1825382 Unspecified GOLGA2P2Y +OMIM:400035 skos:exactMatch HGNC:16479 Unspecified GOLGA2P2Y +OMIM:400035 skos:exactMatch HGNC_symbol:GOLGA2P2Y Unspecified GOLGA2P2Y +OMIM:600968 skos:exactMatch HGNC_symbol:SLC12A3 Unspecified SLC12A3 +OMIM:600968 skos:exactMatch UMLS:C1420092 Unspecified SLC12A3 +OMIM:600968 skos:exactMatch HGNC:10912 Unspecified SLC12A3 +OMIM:400032 skos:exactMatch UMLS:C1425615 Unspecified +OMIM:600967 skos:exactMatch HGNC_symbol:E2F5 Unspecified E2F5 +OMIM:600967 skos:exactMatch HGNC:3119 Unspecified E2F5 +OMIM:600967 skos:exactMatch UMLS:C1414228 Unspecified E2F5 +OMIM:400033 skos:exactMatch UMLS:C1425563 Unspecified TBL1Y +OMIM:400033 skos:exactMatch HGNC_symbol:TBL1Y Unspecified TBL1Y +OMIM:400033 skos:exactMatch HGNC:18502 Unspecified TBL1Y +OMIM:600966 skos:exactMatch HGNC:6628 Unspecified LLGL1 +OMIM:600966 skos:exactMatch UMLS:C1416871 Unspecified LLGL1 +OMIM:600966 skos:exactMatch HGNC_symbol:LLGL1 Unspecified LLGL1 +OMIM:600965 skos:exactMatch UMLS:C1833021 Unspecified deafness, autosomal dominant 6 +OMIM:609313 skos:exactMatch ORPHA:171851 Unspecified mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma +OMIM:609313 skos:exactMatch UMLS:C1836330 Unspecified mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma +OMIM:609312 skos:exactMatch UMLS:C1413916 Unspecified DBH +OMIM:609312 skos:exactMatch HGNC_symbol:DBH Unspecified DBH +OMIM:609312 skos:exactMatch HGNC:2689 Unspecified DBH +OMIM:609311 skos:exactMatch UMLS:C1836336 Unspecified charcot-marie-tooth disease, iia 4h +OMIM:600963 skos:exactMatch UMLS:C1420076 Unspecified SIX5 +OMIM:600963 skos:exactMatch HGNC:10891 Unspecified SIX5 +OMIM:600963 skos:exactMatch HGNC_symbol:SIX5 Unspecified SIX5 +OMIM:600962 skos:exactMatch UMLS:C1833030 Unspecified palmoplantar keratoderma, nonepidermolytic +OMIM:609310 skos:exactMatch UMLS:C1333991 Unspecified colorectal cancer, hereditary nonpolyposis, iia 2 +OMIM:609317 skos:exactMatch HGNC:16280 Unspecified TRIM36 +OMIM:609317 skos:exactMatch HGNC_symbol:TRIM36 Unspecified TRIM36 +OMIM:609317 skos:exactMatch UMLS:C1424149 Unspecified TRIM36 +OMIM:600960 skos:exactMatch HGNC_symbol:SET Unspecified SET +OMIM:600960 skos:exactMatch HGNC:10760 Unspecified SET +OMIM:600960 skos:exactMatch UMLS:C1366517 Unspecified SET +OMIM:609316 skos:exactMatch HGNC_symbol:TRIM31 Unspecified TRIM31 +OMIM:609316 skos:exactMatch UMLS:C1424157 Unspecified TRIM31 +OMIM:609316 skos:exactMatch HGNC:16289 Unspecified TRIM31 +OMIM:304120 skos:exactMatch UMLS:C1844696 Unspecified otopalatodigital syndrome, iia 2 +OMIM:609315 skos:exactMatch UMLS:C1424148 Unspecified TRIM7 +OMIM:609315 skos:exactMatch HGNC_symbol:TRIM7 Unspecified TRIM7 +OMIM:609315 skos:exactMatch HGNC:16278 Unspecified TRIM7 +OMIM:609314 skos:exactMatch HGNC_symbol:RSPH1 Unspecified RSPH1 +OMIM:609314 skos:exactMatch HGNC:12371 Unspecified RSPH1 +OMIM:609314 skos:exactMatch UMLS:C1421199 Unspecified RSPH1 +OMIM:612949 skos:exactMatch ORPHA:353217 Unspecified developmental and epileptic encephalopathy 39 +OMIM:612949 skos:exactMatch UMLS:C2751855 Unspecified developmental and epileptic encephalopathy 39 +OMIM:612947 skos:exactMatch UMLS:C2751870 Unspecified microcephaly, growth retardation, cataract, hearing loss, and unusual appearance +OMIM:612948 skos:exactMatch UMLS:C5193232 Unspecified stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features +OMIM:612945 skos:exactMatch UMLS:C1419211 Unspecified RAB4B +OMIM:612945 skos:exactMatch HGNC_symbol:RAB4B Unspecified RAB4B +OMIM:612945 skos:exactMatch HGNC:9782 Unspecified RAB4B +OMIM:612946 skos:exactMatch UMLS:C2751878 Unspecified hadziselimovic syndrome +OMIM:612943 skos:exactMatch UMLS:C2751986 Unspecified retinitis pigmentosa 42 +OMIM:400030 skos:exactMatch HGNC:18501 Unspecified RPS4Y2 +OMIM:400030 skos:exactMatch HGNC_symbol:RPS4Y2 Unspecified RPS4Y2 +OMIM:400030 skos:exactMatch UMLS:C1425562 Unspecified RPS4Y2 +OMIM:612944 skos:exactMatch HGNC_symbol:RNASET2 Unspecified RNASET2 +OMIM:612944 skos:exactMatch HGNC:21686 Unspecified RNASET2 +OMIM:612944 skos:exactMatch UMLS:C1427695 Unspecified RNASET2 +OMIM:400031 skos:exactMatch HGNC_symbol:TXLNGY Unspecified TXLNGY +OMIM:400031 skos:exactMatch HGNC:18473 Unspecified TXLNGY +OMIM:400031 skos:exactMatch UMLS:C1425538 Unspecified TXLNGY +OMIM:612941 skos:exactMatch UMLS:C1826709 Unspecified PRPF40A +OMIM:612941 skos:exactMatch HGNC:16463 Unspecified PRPF40A +OMIM:612941 skos:exactMatch HGNC_symbol:PRPF40A Unspecified PRPF40A +OMIM:612942 skos:exactMatch HGNC:18238 Unspecified RAB25 +OMIM:612942 skos:exactMatch HGNC_symbol:RAB25 Unspecified RAB25 +OMIM:612942 skos:exactMatch UMLS:C1425389 Unspecified RAB25 +OMIM:612940 skos:exactMatch UMLS:C2751987 Unspecified cutis laxa, autosomal recessive, iia 2b +OMIM:400027 skos:exactMatch HGNC:15965 Unspecified DAZ3 +OMIM:400027 skos:exactMatch UMLS:C1423869 Unspecified DAZ3 +OMIM:400027 skos:exactMatch HGNC_symbol:DAZ3 Unspecified DAZ3 +OMIM:400028 skos:exactMatch HGNC:15529 Unspecified NLGN4Y +OMIM:400028 skos:exactMatch HGNC_symbol:NLGN4Y Unspecified NLGN4Y +OMIM:400028 skos:exactMatch UMLS:C1423557 Unspecified NLGN4Y +OMIM:400025 skos:exactMatch HGNC_symbol:TGIF2LY Unspecified TGIF2LY +OMIM:400025 skos:exactMatch UMLS:C1425608 Unspecified TGIF2LY +OMIM:400025 skos:exactMatch HGNC:18569 Unspecified TGIF2LY +OMIM:400026 skos:exactMatch HGNC:15964 Unspecified DAZ2 +OMIM:400026 skos:exactMatch UMLS:C1423868 Unspecified DAZ2 +OMIM:400026 skos:exactMatch HGNC_symbol:DAZ2 Unspecified DAZ2 +OMIM:400023 skos:exactMatch HGNC:14281 Unspecified CRLF2Y +OMIM:400023 skos:exactMatch UMLS:C1422539 Unspecified CRLF2Y +OMIM:400023 skos:exactMatch HGNC_symbol:CRLF2 Unspecified CRLF2Y +OMIM:600979 skos:exactMatch HGNC_symbol:LTBR Unspecified LTBR +OMIM:600979 skos:exactMatch HGNC:6718 Unspecified LTBR +OMIM:600979 skos:exactMatch UMLS:C1416931 Unspecified LTBR +OMIM:600978 skos:exactMatch HGNC:6711 Unspecified LTB +OMIM:600978 skos:exactMatch UMLS:C0812309 Unspecified LTB +OMIM:600978 skos:exactMatch HGNC_symbol:LTB Unspecified LTB +OMIM:400021 skos:exactMatch UMLS:C1839076 Unspecified lymphoma, hodgkin, Y-linked pseudoautosomal +OMIM:400022 skos:exactMatch HGNC:15813 Unspecified PCDH11Y +OMIM:400022 skos:exactMatch HGNC_symbol:PCDH11Y Unspecified PCDH11Y +OMIM:400022 skos:exactMatch UMLS:C1423749 Unspecified PCDH11Y +OMIM:600977 skos:exactMatch UMLS:C1832976 Unspecified cone-rod dystrophy 5 +OMIM:609302 skos:exactMatch UMLS:C1426556 Unspecified SLC25A22 +OMIM:609302 skos:exactMatch HGNC_symbol:SLC25A22 Unspecified SLC25A22 +OMIM:609302 skos:exactMatch UMLS:C0270855 Unspecified SLC25A22 +OMIM:609302 skos:exactMatch HGNC:19954 Unspecified SLC25A22 +OMIM:600976 skos:exactMatch HGNC_symbol:FAT1 Unspecified FAT1 +OMIM:600976 skos:exactMatch UMLS:C0812278 Unspecified FAT1 +OMIM:600976 skos:exactMatch HGNC:3595 Unspecified FAT1 +OMIM:600976 skos:exactMatch UMLS:C2986382 Unspecified FAT1 +OMIM:600975 skos:exactMatch UMLS:C1832977 Unspecified glaucoma 3, primary infantile, B +OMIM:609301 skos:exactMatch UMLS:C1425018 Unspecified PERP +OMIM:609301 skos:exactMatch HGNC_symbol:PERP Unspecified PERP +OMIM:609301 skos:exactMatch HGNC:17637 Unspecified PERP +OMIM:609300 skos:exactMatch UMLS:C1413858 Unspecified CYP17A1 +OMIM:609300 skos:exactMatch HGNC_symbol:CYP17A1 Unspecified CYP17A1 +OMIM:609300 skos:exactMatch HGNC:2593 Unspecified CYP17A1 +OMIM:600974 skos:exactMatch UMLS:C1832978 Unspecified deafness, autosomal recessive 7 +OMIM:600972 skos:exactMatch UMLS:C0265274 Unspecified achondrogenesis, iia 1b +OMIM:609306 skos:exactMatch UMLS:C1836395 Unspecified spinocerebellar ataxia 26 +OMIM:600971 skos:exactMatch UMLS:C1832992 Unspecified deafness, autosomal recessive 6 +OMIM:609305 skos:exactMatch HGNC_symbol:LXN Unspecified LXN +OMIM:609305 skos:exactMatch HGNC:13347 Unspecified LXN +OMIM:609305 skos:exactMatch UMLS:C1537624 Unspecified LXN +OMIM:400029 skos:exactMatch HGNC_symbol:HSFY1 Unspecified HSFY +OMIM:400029 skos:exactMatch UMLS:C1537384 Unspecified HSFY +OMIM:400029 skos:exactMatch HGNC:18568 Unspecified HSFY +OMIM:600970 skos:exactMatch UMLS:C1417568 Unspecified MYO6 +OMIM:600970 skos:exactMatch HGNC:7605 Unspecified MYO6 +OMIM:600970 skos:exactMatch HGNC_symbol:MYO6 Unspecified MYO6 +OMIM:609304 skos:exactMatch UMLS:C0270855 Unspecified developmental and epileptic encephalopathy 3 +OMIM:609304 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 3 +OMIM:609304 skos:exactMatch ORPHA:1935 Unspecified developmental and epileptic encephalopathy 3 +OMIM:609303 skos:exactMatch HGNC_symbol:SLC25A18 Unspecified SLC25A18 +OMIM:609303 skos:exactMatch UMLS:C1420159 Unspecified SLC25A18 +OMIM:609303 skos:exactMatch HGNC:10988 Unspecified SLC25A18 +OMIM:612938 skos:exactMatch UMLS:C2752001 Unspecified growth retardation, developmental delay, and facial dysmorphism +OMIM:612939 skos:exactMatch UMLS:C2681594 Unspecified HSPBP1 +OMIM:612939 skos:exactMatch HGNC_symbol:HSPBP1 Unspecified HSPBP1 +OMIM:612939 skos:exactMatch HGNC:24989 Unspecified HSPBP1 +OMIM:612936 skos:exactMatch UMLS:C2752008 Unspecified spastic paraplegia 50, autosomal recessive +OMIM:612937 skos:exactMatch ORPHA:263494 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 +OMIM:612937 skos:exactMatch UMLS:C2752007 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 +OMIM:612935 skos:exactMatch HGNC_symbol:MPRIP Unspecified MPRIP +OMIM:612935 skos:exactMatch HGNC:30321 Unspecified MPRIP +OMIM:612935 skos:exactMatch UMLS:C2681837 Unspecified MPRIP +OMIM:612932 skos:exactMatch UMLS:C2752027 Unspecified glycogen storage disease 13 +OMIM:400020 skos:exactMatch HGNC_symbol:SHOX Unspecified SHOXY +OMIM:400020 skos:exactMatch UMLS:C4551876 Unspecified SHOXY +OMIM:400020 skos:exactMatch HGNC:10853 Unspecified SHOXY +OMIM:612933 skos:exactMatch UMLS:C2931743 Unspecified glycogen storage disease 11 +OMIM:612930 skos:exactMatch HGNC:26084 Unspecified PID1 +OMIM:612930 skos:exactMatch UMLS:C2239817 Unspecified PID1 +OMIM:612930 skos:exactMatch HGNC_symbol:PID1 Unspecified PID1 +OMIM:612931 skos:exactMatch HGNC:8889 Unspecified PGAM2 +OMIM:612931 skos:exactMatch UMLS:C1418502 Unspecified PGAM2 +OMIM:612931 skos:exactMatch HGNC_symbol:PGAM2 Unspecified PGAM2 +OMIM:612931 skos:exactMatch UMLS:C0268149 Unspecified PGAM2 +OMIM:400016 skos:exactMatch HGNC_symbol:CDY1 Unspecified CDY1 +OMIM:400016 skos:exactMatch UMLS:C1413303 Unspecified CDY1 +OMIM:400016 skos:exactMatch HGNC:1809 Unspecified CDY1 +OMIM:400017 skos:exactMatch UMLS:C1420788 Unspecified TMSB4Y +OMIM:400017 skos:exactMatch HGNC_symbol:TMSB4Y Unspecified TMSB4Y +OMIM:400017 skos:exactMatch HGNC:11882 Unspecified TMSB4Y +OMIM:400014 skos:exactMatch UMLS:C1414325 Unspecified EIF1AY +OMIM:400014 skos:exactMatch HGNC_symbol:EIF1AY Unspecified EIF1AY +OMIM:400014 skos:exactMatch HGNC:3252 Unspecified EIF1AY +OMIM:600949 skos:exactMatch UMLS:C1416160 Unspecified None +OMIM:600948 skos:exactMatch HGNC_symbol:MOBP Unspecified MOBP +OMIM:600948 skos:exactMatch HGNC:7189 Unspecified MOBP +OMIM:600948 skos:exactMatch UMLS:C1417223 Unspecified MOBP +OMIM:400015 skos:exactMatch UMLS:C1425610 Unspecified None +OMIM:400015 skos:exactMatch HGNC_symbol:XKRY Unspecified None +OMIM:400015 skos:exactMatch HGNC:18571 Unspecified None +OMIM:600947 skos:exactMatch HGNC_symbol:HAP1 Unspecified HAP1 +OMIM:600947 skos:exactMatch HGNC:4812 Unspecified HAP1 +OMIM:600947 skos:exactMatch UMLS:C1415470 Unspecified HAP1 +OMIM:400012 skos:exactMatch HGNC_symbol:VCY Unspecified VCY +OMIM:400012 skos:exactMatch HGNC:12668 Unspecified VCY +OMIM:400012 skos:exactMatch UMLS:C1421439 Unspecified VCY +OMIM:600946 skos:exactMatch HGNC_symbol:GHR Unspecified GHR +OMIM:600946 skos:exactMatch UMLS:C3888131 Unspecified GHR +OMIM:600946 skos:exactMatch UMLS:C1858656 Unspecified GHR +OMIM:600946 skos:exactMatch UMLS:C0271568 Unspecified GHR +OMIM:600946 skos:exactMatch HGNC:4263 Unspecified GHR +OMIM:600946 skos:exactMatch UMLS:C4016705 Unspecified GHR +OMIM:600946 skos:exactMatch UMLS:C4016706 Unspecified GHR +OMIM:600946 skos:exactMatch UMLS:C4016707 Unspecified GHR +OMIM:600946 skos:exactMatch UMLS:C1415063 Unspecified GHR +OMIM:400013 skos:exactMatch HGNC:13508 Unspecified BPY2 +OMIM:400013 skos:exactMatch HGNC_symbol:BPY2 Unspecified BPY2 +OMIM:400013 skos:exactMatch UMLS:C1538959 Unspecified BPY2 +OMIM:600945 skos:exactMatch HGNC_symbol:UCN Unspecified UCN +OMIM:600945 skos:exactMatch HGNC:12516 Unspecified UCN +OMIM:600945 skos:exactMatch UMLS:C1421312 Unspecified UCN +OMIM:400010 skos:exactMatch UMLS:C1413926 Unspecified DDX3Y +OMIM:400010 skos:exactMatch HGNC:2699 Unspecified DDX3Y +OMIM:400010 skos:exactMatch HGNC_symbol:DDX3Y Unspecified DDX3Y +OMIM:400011 skos:exactMatch UMLS:C1412586 Unspecified None +OMIM:400011 skos:exactMatch HGNC:751 Unspecified None +OMIM:400011 skos:exactMatch HGNC_symbol:ASMTL Unspecified None +OMIM:600944 skos:exactMatch UMLS:C1367701 Unspecified DHPS +OMIM:600944 skos:exactMatch HGNC_symbol:DHPS Unspecified DHPS +OMIM:600944 skos:exactMatch HGNC:2869 Unspecified DHPS +OMIM:600943 skos:exactMatch UMLS:C1413153 Unspecified SERPINH1 +OMIM:600943 skos:exactMatch UMLS:C1426527 Unspecified SERPINH1 +OMIM:600943 skos:exactMatch HGNC_symbol:SERPINH1 Unspecified SERPINH1 +OMIM:600943 skos:exactMatch HGNC:1546 Unspecified SERPINH1 +OMIM:269250 skos:exactMatch UMLS:C0432194 Unspecified schneckenbecken dysplasia +OMIM:600941 skos:exactMatch UMLS:C1412802 Unspecified BLVRB +OMIM:600941 skos:exactMatch HGNC_symbol:BLVRB Unspecified BLVRB +OMIM:600941 skos:exactMatch HGNC:1063 Unspecified BLVRB +OMIM:600940 skos:exactMatch HGNC:6600 Unspecified LIG3 +OMIM:600940 skos:exactMatch UMLS:C1416853 Unspecified LIG3 +OMIM:600940 skos:exactMatch HGNC_symbol:LIG3 Unspecified LIG3 +OMIM:304100 skos:exactMatch UMLS:C1839909 Unspecified corpus callosum, partial agenesis of, X-linked +OMIM:400018 skos:exactMatch UMLS:C1824691 Unspecified CDY2A +OMIM:400018 skos:exactMatch HGNC:1810 Unspecified CDY2A +OMIM:400018 skos:exactMatch HGNC_symbol:CDY2A Unspecified CDY2A +OMIM:400019 skos:exactMatch HGNC:14024 Unspecified PRY +OMIM:400019 skos:exactMatch HGNC_symbol:PRY Unspecified PRY +OMIM:400019 skos:exactMatch UMLS:C1422358 Unspecified PRY +OMIM:612929 skos:exactMatch UMLS:C2752035 Unspecified mycobacterium tuberculosis, susceptibility to, 3 +OMIM:612927 skos:exactMatch HGNC:28994 Unspecified AVL9 +OMIM:612927 skos:exactMatch UMLS:C2681178 Unspecified AVL9 +OMIM:612927 skos:exactMatch HGNC_symbol:AVL9 Unspecified AVL9 +OMIM:612928 skos:exactMatch HGNC:26278 Unspecified ISOC2 +OMIM:612928 skos:exactMatch HGNC_symbol:ISOC2 Unspecified ISOC2 +OMIM:612928 skos:exactMatch UMLS:C1537427 Unspecified ISOC2 +OMIM:612925 skos:exactMatch UMLS:C2752037 Unspecified hemolytic uremic syndrome, atypical, susceptibility to, 5 +OMIM:612926 skos:exactMatch UMLS:C2752036 Unspecified hemolytic uremic syndrome, atypical, susceptibility to, 6 +OMIM:270220 skos:exactMatch UMLS:C1849195 Unspecified sjogren-larsson-like ichthyosis without cns or eye involvement +OMIM:612923 skos:exactMatch UMLS:C2752039 Unspecified hemolytic uremic syndrome, atypical, susceptibility to, 3 +OMIM:612924 skos:exactMatch UMLS:C2752038 Unspecified hemolytic uremic syndrome, atypical, susceptibility to, 4 +OMIM:612921 skos:exactMatch UMLS:C2752041 Unspecified three m syndrome 2 +OMIM:612922 skos:exactMatch UMLS:C2752040 Unspecified hemolytic uremic syndrome, atypical, susceptibility to, 2 +OMIM:257270 skos:exactMatch UMLS:C1850362 Unspecified night blindness, congenital stationary, iia 1b +OMIM:612920 skos:exactMatch HGNC_symbol:TSPEAR Unspecified TSPEAR +OMIM:612920 skos:exactMatch UMLS:C1412954 Unspecified TSPEAR +OMIM:612920 skos:exactMatch HGNC:1268 Unspecified TSPEAR +OMIM:400005 skos:exactMatch HGNC_symbol:USP9Y Unspecified USP9Y +OMIM:400005 skos:exactMatch HGNC:12633 Unspecified USP9Y +OMIM:400005 skos:exactMatch UMLS:C1421410 Unspecified USP9Y +OMIM:400006 skos:exactMatch HGNC_symbol:RBMY1A1 Unspecified RBMY1A1 +OMIM:400006 skos:exactMatch HGNC:9912 Unspecified RBMY1A1 +OMIM:400006 skos:exactMatch UMLS:C1419310 Unspecified RBMY1A1 +OMIM:400003 skos:exactMatch HGNC:2682 Unspecified DAZ1 +OMIM:400003 skos:exactMatch UMLS:C1539219 Unspecified DAZ1 +OMIM:400003 skos:exactMatch UMLS:C1423870 Unspecified DAZ1 +OMIM:400003 skos:exactMatch HGNC_symbol:DAZ1 Unspecified DAZ1 +OMIM:600959 skos:exactMatch HGNC_symbol:COPB1 Unspecified COPB1 +OMIM:600959 skos:exactMatch HGNC:2231 Unspecified COPB1 +OMIM:600959 skos:exactMatch UMLS:C1824775 Unspecified COPB1 +OMIM:400004 skos:exactMatch UMLS:C1839079 Unspecified retinitis pigmentosa, Y-linked +OMIM:600958 skos:exactMatch HGNC:7551 Unspecified MYBPC3 +OMIM:600958 skos:exactMatch HGNC_symbol:MYBPC3 Unspecified MYBPC3 +OMIM:600958 skos:exactMatch UMLS:C1417523 Unspecified MYBPC3 +OMIM:600957 skos:exactMatch UMLS:C1412384 Unspecified AMH +OMIM:600957 skos:exactMatch HGNC:464 Unspecified AMH +OMIM:600957 skos:exactMatch HGNC_symbol:AMH Unspecified AMH +OMIM:600956 skos:exactMatch UMLS:C1332084 Unspecified AMHR2 +OMIM:600956 skos:exactMatch HGNC_symbol:AMHR2 Unspecified AMHR2 +OMIM:600956 skos:exactMatch HGNC:465 Unspecified AMHR2 +OMIM:600955 skos:exactMatch UMLS:C1833053 Unspecified proprotein convertase 1/3 deficiency +OMIM:600954 skos:exactMatch UMLS:C1413904 Unspecified DAP +OMIM:600954 skos:exactMatch HGNC:2672 Unspecified DAP +OMIM:600954 skos:exactMatch HGNC_symbol:DAP Unspecified DAP +OMIM:600953 skos:exactMatch HGNC_symbol:IL18 Unspecified IL18 +OMIM:600953 skos:exactMatch HGNC:5986 Unspecified IL18 +OMIM:600953 skos:exactMatch UMLS:C1334109 Unspecified IL18 +OMIM:600952 skos:exactMatch UMLS:C1833064 Unspecified transsexuality +OMIM:600951 skos:exactMatch HGNC_symbol:TERF1 Unspecified TERF1 +OMIM:600951 skos:exactMatch HGNC:11728 Unspecified TERF1 +OMIM:600951 skos:exactMatch UMLS:C1336604 Unspecified TERF1 +OMIM:600950 skos:exactMatch HGNC:19 Unspecified AANAT +OMIM:600950 skos:exactMatch UMLS:C1412053 Unspecified AANAT +OMIM:600950 skos:exactMatch HGNC_symbol:AANAT Unspecified AANAT +OMIM:400009 skos:exactMatch UMLS:C1421415 Unspecified UTY +OMIM:400009 skos:exactMatch HGNC_symbol:UTY Unspecified UTY +OMIM:400009 skos:exactMatch HGNC:12638 Unspecified UTY +OMIM:304110 skos:exactMatch UMLS:C0220767 Unspecified craniofrontonasal syndrome +OMIM:400008 skos:exactMatch HGNC_symbol:PRKY Unspecified PRKY +OMIM:400008 skos:exactMatch HGNC:9444 Unspecified PRKY +OMIM:400008 skos:exactMatch UMLS:C1418937 Unspecified PRKY +OMIM:610339 skos:exactMatch HGNC:19316 Unspecified P3H1 +OMIM:610339 skos:exactMatch HGNC_symbol:P3H1 Unspecified P3H1 +OMIM:610339 skos:exactMatch UMLS:C1426160 Unspecified P3H1 +OMIM:610338 skos:exactMatch UMLS:C1835910 Unspecified right pulmonary artery, anomalous origin of, familial +OMIM:233270 skos:exactMatch UMLS:C1856274 Unspecified gombo syndrome +OMIM:612998 skos:exactMatch UMLS:C2751807 Unspecified emery-dreifuss muscular dystrophy 4, autosomal dominant +OMIM:610335 skos:exactMatch HGNC_symbol:PHF20 Unspecified PHF20 +OMIM:610335 skos:exactMatch HGNC:16098 Unspecified PHF20 +OMIM:610335 skos:exactMatch UMLS:C1538633 Unspecified PHF20 +OMIM:612999 skos:exactMatch ORPHA:98853 Unspecified emery-dreifuss muscular dystrophy 5, autosomal dominant +OMIM:612999 skos:exactMatch UMLS:C2751805 Unspecified emery-dreifuss muscular dystrophy 5, autosomal dominant +OMIM:612999 skos:exactMatch ORPHA:261 Unspecified emery-dreifuss muscular dystrophy 5, autosomal dominant +OMIM:610334 skos:exactMatch HGNC:24930 Unspecified TMEM176A +OMIM:610334 skos:exactMatch HGNC_symbol:TMEM176A Unspecified TMEM176A +OMIM:610334 skos:exactMatch UMLS:C1823440 Unspecified TMEM176A +OMIM:612996 skos:exactMatch HGNC:33199 Unspecified TRK-CTT2-3 +OMIM:612996 skos:exactMatch UMLS:C1823498 Unspecified TRK-CTT2-3 +OMIM:612996 skos:exactMatch HGNC_symbol:TRK-CTT2-3 Unspecified TRK-CTT2-3 +OMIM:610337 skos:exactMatch HGNC_symbol:URGCP Unspecified URGCP +OMIM:610337 skos:exactMatch UMLS:C1835911 Unspecified URGCP +OMIM:610337 skos:exactMatch HGNC:30890 Unspecified URGCP +OMIM:610336 skos:exactMatch HGNC:29417 Unspecified C2CD4C +OMIM:610336 skos:exactMatch UMLS:C1428858 Unspecified C2CD4C +OMIM:610336 skos:exactMatch HGNC_symbol:C2CD4C Unspecified C2CD4C +OMIM:612997 skos:exactMatch ORPHA:276234 Unspecified spermatogenic failure 7 +OMIM:612997 skos:exactMatch UMLS:C2751811 Unspecified spermatogenic failure 7 +OMIM:610331 skos:exactMatch UMLS:C1425399 Unspecified HES6 +OMIM:610331 skos:exactMatch HGNC_symbol:HES6 Unspecified HES6 +OMIM:610331 skos:exactMatch HGNC:18254 Unspecified HES6 +OMIM:612994 skos:exactMatch HGNC_symbol:RAB28 Unspecified RAB28 +OMIM:612994 skos:exactMatch HGNC:9768 Unspecified RAB28 +OMIM:612994 skos:exactMatch UMLS:C1419197 Unspecified RAB28 +OMIM:610330 skos:exactMatch UMLS:C1826838 Unspecified RNASEH2C +OMIM:610330 skos:exactMatch HGNC:24116 Unspecified RNASEH2C +OMIM:610330 skos:exactMatch HGNC_symbol:RNASEH2C Unspecified RNASEH2C +OMIM:612995 skos:exactMatch HGNC_symbol:TRV-CAC1-2 Unspecified TRV-CAC1-2 +OMIM:612995 skos:exactMatch HGNC:12354 Unspecified TRV-CAC1-2 +OMIM:612995 skos:exactMatch UMLS:C1421188 Unspecified TRV-CAC1-2 +OMIM:610333 skos:exactMatch UMLS:C1835912 Unspecified aicardi-goutieres syndrome 4 +OMIM:612992 skos:exactMatch HGNC_symbol:NBPF3 Unspecified NBPF3 +OMIM:612992 skos:exactMatch HGNC:25076 Unspecified NBPF3 +OMIM:612992 skos:exactMatch UMLS:C1826361 Unspecified NBPF3 +OMIM:612993 skos:exactMatch HGNC_symbol:FILIP1L Unspecified FILIP1L +OMIM:612993 skos:exactMatch HGNC:24589 Unspecified FILIP1L +OMIM:612993 skos:exactMatch UMLS:C1825299 Unspecified FILIP1L +OMIM:610340 skos:exactMatch UMLS:C1426447 Unspecified EPB41L4B +OMIM:610340 skos:exactMatch HGNC:19818 Unspecified EPB41L4B +OMIM:610340 skos:exactMatch HGNC_symbol:EPB41L4B Unspecified EPB41L4B +OMIM:609353 skos:exactMatch HGNC_symbol:ESCO2 Unspecified ESCO2 +OMIM:609353 skos:exactMatch HGNC:27230 Unspecified ESCO2 +OMIM:609353 skos:exactMatch UMLS:C1539367 Unspecified ESCO2 +OMIM:609352 skos:exactMatch UMLS:C1836284 Unspecified epidermolysis bullosa simplex 2e, with migratory circinate erythema +OMIM:609351 skos:exactMatch UMLS:C1428339 Unspecified ARL11 +OMIM:609351 skos:exactMatch HGNC_symbol:ARL11 Unspecified ARL11 +OMIM:609351 skos:exactMatch HGNC:24046 Unspecified ARL11 +OMIM:609350 skos:exactMatch HGNC_symbol:RTP4 Unspecified RTP4 +OMIM:609350 skos:exactMatch UMLS:C1826954 Unspecified RTP4 +OMIM:609350 skos:exactMatch HGNC:23992 Unspecified RTP4 +OMIM:609357 skos:exactMatch HGNC_symbol:MCM10 Unspecified MCM10 +OMIM:609357 skos:exactMatch HGNC:18043 Unspecified MCM10 +OMIM:609357 skos:exactMatch UMLS:C1334488 Unspecified MCM10 +OMIM:609356 skos:exactMatch UMLS:C1826496 Unspecified NUFIP2 +OMIM:609356 skos:exactMatch HGNC_symbol:NUFIP2 Unspecified NUFIP2 +OMIM:609356 skos:exactMatch HGNC:17634 Unspecified NUFIP2 +OMIM:609355 skos:exactMatch UMLS:C1537743 Unspecified MIR32 +OMIM:609355 skos:exactMatch HGNC_symbol:MIR32 Unspecified MIR32 +OMIM:609355 skos:exactMatch HGNC:31631 Unspecified MIR32 +OMIM:609354 skos:exactMatch UMLS:C1836276 Unspecified bone mineral density quantitative trait locus 5 +OMIM:609359 skos:exactMatch HGNC:24979 Unspecified HS1BP3 +OMIM:609359 skos:exactMatch UMLS:C1825525 Unspecified HS1BP3 +OMIM:609359 skos:exactMatch HGNC_symbol:HS1BP3 Unspecified HS1BP3 +OMIM:609358 skos:exactMatch HGNC:3491 Unspecified ETV2 +OMIM:609358 skos:exactMatch UMLS:C1414476 Unspecified ETV2 +OMIM:609358 skos:exactMatch HGNC_symbol:ETV2 Unspecified ETV2 +OMIM:270200 skos:exactMatch UMLS:C0037231 Unspecified sjogren-larsson syndrome +OMIM:610328 skos:exactMatch HGNC:19761 Unspecified RUFY2 +OMIM:610328 skos:exactMatch HGNC_symbol:RUFY2 Unspecified RUFY2 +OMIM:610328 skos:exactMatch UMLS:C1426390 Unspecified RUFY2 +OMIM:610327 skos:exactMatch HGNC_symbol:RUFY1 Unspecified RUFY1 +OMIM:610327 skos:exactMatch HGNC:19760 Unspecified RUFY1 +OMIM:610327 skos:exactMatch UMLS:C1426389 Unspecified RUFY1 +OMIM:612989 skos:exactMatch UMLS:C2751812 Unspecified optic atrophy 7 with or without auditory neuropathy +OMIM:610329 skos:exactMatch UMLS:C1835916 Unspecified aicardi-goutieres syndrome 3 +OMIM:610324 skos:exactMatch UMLS:C1826528 Unspecified OXSM +OMIM:610324 skos:exactMatch HGNC_symbol:OXSM Unspecified OXSM +OMIM:610324 skos:exactMatch HGNC:26063 Unspecified OXSM +OMIM:612987 skos:exactMatch UMLS:C1826474 Unspecified NSMCE4A +OMIM:612987 skos:exactMatch HGNC_symbol:NSMCE4A Unspecified NSMCE4A +OMIM:612987 skos:exactMatch HGNC:25935 Unspecified NSMCE4A +OMIM:612988 skos:exactMatch HGNC_symbol:TMEM126A Unspecified TMEM126A +OMIM:612988 skos:exactMatch UMLS:C1823384 Unspecified TMEM126A +OMIM:612988 skos:exactMatch HGNC:25382 Unspecified TMEM126A +OMIM:610323 skos:exactMatch UMLS:C1826315 Unspecified MTDH +OMIM:610323 skos:exactMatch HGNC:29608 Unspecified MTDH +OMIM:610323 skos:exactMatch HGNC_symbol:MTDH Unspecified MTDH +OMIM:610326 skos:exactMatch HGNC_symbol:RNASEH2B Unspecified RNASEH2B +OMIM:610326 skos:exactMatch UMLS:C1826837 Unspecified RNASEH2B +OMIM:610326 skos:exactMatch HGNC:25671 Unspecified RNASEH2B +OMIM:612985 skos:exactMatch HGNC_symbol:IRX3 Unspecified IRX3 +OMIM:612985 skos:exactMatch HGNC:14360 Unspecified IRX3 +OMIM:612985 skos:exactMatch UMLS:C1422592 Unspecified IRX3 +OMIM:612986 skos:exactMatch UMLS:C1825042 Unspecified EID3 +OMIM:612986 skos:exactMatch HGNC_symbol:EID3 Unspecified EID3 +OMIM:612986 skos:exactMatch HGNC:32961 Unspecified EID3 +OMIM:610325 skos:exactMatch UMLS:C1417876 Unspecified NUDC +OMIM:610325 skos:exactMatch HGNC:8045 Unspecified NUDC +OMIM:610325 skos:exactMatch HGNC_symbol:NUDC Unspecified NUDC +OMIM:612983 skos:exactMatch UMLS:C1537764 Unspecified MIR106B +OMIM:612983 skos:exactMatch HGNC:31495 Unspecified MIR106B +OMIM:612983 skos:exactMatch HGNC_symbol:MIR106B Unspecified MIR106B +OMIM:610320 skos:exactMatch UMLS:C1853196 Unspecified myopia 14 +OMIM:612984 skos:exactMatch UMLS:C1537750 Unspecified MIR93 +OMIM:612984 skos:exactMatch HGNC_symbol:MIR93 Unspecified MIR93 +OMIM:612984 skos:exactMatch HGNC:31645 Unspecified MIR93 +OMIM:610322 skos:exactMatch HGNC_symbol:TRERF1 Unspecified TRERF1 +OMIM:610322 skos:exactMatch HGNC:18273 Unspecified TRERF1 +OMIM:610322 skos:exactMatch UMLS:C1425411 Unspecified TRERF1 +OMIM:612981 skos:exactMatch HGNC:30856 Unspecified IMP4 +OMIM:612981 skos:exactMatch HGNC_symbol:IMP4 Unspecified IMP4 +OMIM:612981 skos:exactMatch UMLS:C1537406 Unspecified IMP4 +OMIM:610321 skos:exactMatch UMLS:C1853195 Unspecified prostate cancer, hereditary, 7 +OMIM:612982 skos:exactMatch HGNC_symbol:MIR210 Unspecified MIR210 +OMIM:612982 skos:exactMatch UMLS:C1537846 Unspecified MIR210 +OMIM:612982 skos:exactMatch HGNC:31587 Unspecified MIR210 +OMIM:612990 skos:exactMatch UMLS:C1425445 Unspecified ASXL1 +OMIM:612990 skos:exactMatch UMLS:C0796232 Unspecified ASXL1 +OMIM:612990 skos:exactMatch HGNC_symbol:ASXL1 Unspecified ASXL1 +OMIM:612990 skos:exactMatch HGNC:18318 Unspecified ASXL1 +OMIM:612991 skos:exactMatch HGNC_symbol:ASXL2 Unspecified ASXL2 +OMIM:612991 skos:exactMatch UMLS:C4310672 Unspecified ASXL2 +OMIM:612991 skos:exactMatch HGNC:23805 Unspecified ASXL2 +OMIM:612991 skos:exactMatch UMLS:C1428272 Unspecified ASXL2 +OMIM:609342 skos:exactMatch HGNC:4268 Unspecified CBLIF +OMIM:609342 skos:exactMatch HGNC_symbol:CBLIF Unspecified CBLIF +OMIM:609342 skos:exactMatch UMLS:C1415066 Unspecified CBLIF +OMIM:609342 skos:exactMatch UMLS:C1394891 Unspecified CBLIF +OMIM:609342 skos:exactMatch UMLS:C4017193 Unspecified CBLIF +OMIM:609341 skos:exactMatch UMLS:C1422428 Unspecified TPSG1 +OMIM:609341 skos:exactMatch HGNC:14134 Unspecified TPSG1 +OMIM:609341 skos:exactMatch HGNC_symbol:TPSG1 Unspecified TPSG1 +OMIM:609340 skos:exactMatch UMLS:C1836295 Unspecified spastic paraplegia 28, autosomal recessive +OMIM:609346 skos:exactMatch HGNC_symbol:REEP6 Unspecified REEP6 +OMIM:609346 skos:exactMatch UMLS:C1836286 Unspecified REEP6 +OMIM:609346 skos:exactMatch HGNC:30078 Unspecified REEP6 +OMIM:609345 skos:exactMatch UMLS:C1836287 Unspecified cerebrorenodigital syndrome with limb malformations and triradiate acetabula +OMIM:609344 skos:exactMatch HGNC:17585 Unspecified None +OMIM:609344 skos:exactMatch UMLS:C1824791 Unspecified None +OMIM:609344 skos:exactMatch HGNC_symbol:KCP Unspecified None +OMIM:609343 skos:exactMatch HGNC_symbol:PRSS22 Unspecified PRSS22 +OMIM:609343 skos:exactMatch UMLS:C1422596 Unspecified PRSS22 +OMIM:609343 skos:exactMatch HGNC:14368 Unspecified PRSS22 +OMIM:609349 skos:exactMatch HGNC_symbol:REEP4 Unspecified REEP4 +OMIM:609349 skos:exactMatch UMLS:C1826795 Unspecified REEP4 +OMIM:609349 skos:exactMatch HGNC:26176 Unspecified REEP4 +OMIM:609348 skos:exactMatch HGNC_symbol:REEP3 Unspecified REEP3 +OMIM:609348 skos:exactMatch HGNC:23711 Unspecified REEP3 +OMIM:609348 skos:exactMatch UMLS:C1428213 Unspecified REEP3 +OMIM:609347 skos:exactMatch HGNC_symbol:REEP2 Unspecified REEP2 +OMIM:609347 skos:exactMatch UMLS:C1826794 Unspecified REEP2 +OMIM:609347 skos:exactMatch HGNC:17975 Unspecified REEP2 +OMIM:609329 skos:exactMatch HGNC:12562 Unspecified UCK2 +OMIM:609329 skos:exactMatch UMLS:C1540157 Unspecified UCK2 +OMIM:609329 skos:exactMatch HGNC_symbol:UCK2 Unspecified UCK2 +OMIM:610317 skos:exactMatch HGNC:22199 Unspecified COBL +OMIM:610317 skos:exactMatch UMLS:C1427760 Unspecified COBL +OMIM:610317 skos:exactMatch HGNC_symbol:COBL Unspecified COBL +OMIM:610316 skos:exactMatch HGNC:23166 Unspecified PNPT1 +OMIM:610316 skos:exactMatch UMLS:C1427960 Unspecified PNPT1 +OMIM:610316 skos:exactMatch HGNC_symbol:PNPT1 Unspecified PNPT1 +OMIM:612978 skos:exactMatch HGNC_symbol:CBLN3 Unspecified CBLN3 +OMIM:612978 skos:exactMatch HGNC:20146 Unspecified CBLN3 +OMIM:612978 skos:exactMatch UMLS:C1426730 Unspecified CBLN3 +OMIM:610319 skos:exactMatch UMLS:C1853197 Unspecified rhizomelic dysplasia, scoliosis, and retinitis pigmentosa +OMIM:610318 skos:exactMatch HGNC_symbol:COBLL1 Unspecified None +OMIM:610318 skos:exactMatch HGNC:23571 Unspecified None +OMIM:610318 skos:exactMatch UMLS:C1428135 Unspecified None +OMIM:612979 skos:exactMatch HGNC_symbol:SYS1 Unspecified SYS1 +OMIM:612979 skos:exactMatch UMLS:C1823165 Unspecified SYS1 +OMIM:612979 skos:exactMatch HGNC:16162 Unspecified SYS1 +OMIM:269200 skos:exactMatch UMLS:C0085860 Unspecified autoimmune polyendocrine syndrome, iia 2 +OMIM:612976 skos:exactMatch UMLS:C2751814 Unspecified age-related hearing impairment 2 +OMIM:610313 skos:exactMatch UMLS:C1853198 Unspecified crisponi/cold-induced sweating syndrome 2 +OMIM:610313 skos:exactMatch ORPHA:157820 Unspecified crisponi/cold-induced sweating syndrome 2 +OMIM:612977 skos:exactMatch HGNC_symbol:DCUN1D4 Unspecified DCUN1D4 +OMIM:612977 skos:exactMatch UMLS:C1824897 Unspecified DCUN1D4 +OMIM:612977 skos:exactMatch HGNC:28998 Unspecified DCUN1D4 +OMIM:610312 skos:exactMatch HGNC:17644 Unspecified None +OMIM:610312 skos:exactMatch HGNC_symbol:PIWIL2 Unspecified None +OMIM:610312 skos:exactMatch UMLS:C1425022 Unspecified None +OMIM:610315 skos:exactMatch HGNC:18444 Unspecified PIWIL4 +OMIM:610315 skos:exactMatch HGNC_symbol:PIWIL4 Unspecified PIWIL4 +OMIM:610315 skos:exactMatch UMLS:C1425519 Unspecified PIWIL4 +OMIM:612974 skos:exactMatch HGNC:22953 Unspecified DEPDC6 +OMIM:612974 skos:exactMatch UMLS:C1427808 Unspecified DEPDC6 +OMIM:612974 skos:exactMatch HGNC_symbol:DEPTOR Unspecified DEPDC6 +OMIM:610314 skos:exactMatch HGNC:18443 Unspecified None +OMIM:610314 skos:exactMatch HGNC_symbol:PIWIL3 Unspecified None +OMIM:610314 skos:exactMatch UMLS:C1425518 Unspecified None +OMIM:612975 skos:exactMatch UMLS:C5200932 Unspecified short sleep, familial natural, 1 +OMIM:612972 skos:exactMatch UMLS:C1422724 Unspecified TIGD1 +OMIM:612972 skos:exactMatch HGNC_symbol:TIGD1 Unspecified TIGD1 +OMIM:612972 skos:exactMatch HGNC:14523 Unspecified TIGD1 +OMIM:612973 skos:exactMatch HGNC:18333 Unspecified TIGD2 +OMIM:612973 skos:exactMatch HGNC_symbol:TIGD2 Unspecified TIGD2 +OMIM:612973 skos:exactMatch UMLS:C1425453 Unspecified TIGD2 +OMIM:610311 skos:exactMatch HGNC:24628 Unspecified MED28 +OMIM:610311 skos:exactMatch UMLS:C1537682 Unspecified MED28 +OMIM:610311 skos:exactMatch HGNC_symbol:MED28 Unspecified MED28 +OMIM:612970 skos:exactMatch HGNC_symbol:NBPF17P Unspecified neuroblastoma breakpoint family, member 17, pseudogene +OMIM:612970 skos:exactMatch UMLS:C2751821 Unspecified neuroblastoma breakpoint family, member 17, pseudogene +OMIM:612970 skos:exactMatch HGNC:31997 Unspecified neuroblastoma breakpoint family, member 17, pseudogene +OMIM:612971 skos:exactMatch HGNC_symbol:PDZD7 Unspecified PDZD7 +OMIM:612971 skos:exactMatch UMLS:C1428568 Unspecified PDZD7 +OMIM:612971 skos:exactMatch HGNC:26257 Unspecified PDZD7 +OMIM:610310 skos:exactMatch UMLS:C1853199 Unspecified MGAT4D +OMIM:610310 skos:exactMatch HGNC_symbol:MGAT4D Unspecified MGAT4D +OMIM:610310 skos:exactMatch HGNC:43619 Unspecified MGAT4D +OMIM:612980 skos:exactMatch UMLS:C1825597 Unspecified IMP3 +OMIM:612980 skos:exactMatch HGNC:14497 Unspecified IMP3 +OMIM:612980 skos:exactMatch HGNC_symbol:IMP3 Unspecified IMP3 +OMIM:609331 skos:exactMatch UMLS:C1423974 Unspecified BHLHE23 +OMIM:609331 skos:exactMatch HGNC:16093 Unspecified BHLHE23 +OMIM:609331 skos:exactMatch HGNC_symbol:BHLHE23 Unspecified BHLHE23 +OMIM:609330 skos:exactMatch UMLS:C1538531 Unspecified OIT3 +OMIM:609330 skos:exactMatch HGNC_symbol:OIT3 Unspecified OIT3 +OMIM:609330 skos:exactMatch HGNC:29953 Unspecified OIT3 +OMIM:600989 skos:exactMatch UMLS:C1832949 Unspecified infundibulopelvic dysgenesis +OMIM:600988 skos:exactMatch HGNC:6825 Unspecified MAN2A2 +OMIM:600988 skos:exactMatch HGNC_symbol:MAN2A2 Unspecified MAN2A2 +OMIM:600988 skos:exactMatch UMLS:C1416996 Unspecified MAN2A2 +OMIM:609335 skos:exactMatch HGNC:24299 Unspecified ODR4 +OMIM:609335 skos:exactMatch HGNC_symbol:ODR4 Unspecified ODR4 +OMIM:609335 skos:exactMatch UMLS:C1538979 Unspecified ODR4 +OMIM:600987 skos:exactMatch UMLS:C1832950 Unspecified cleft palate, cardiac defects, and mental retardation +OMIM:600986 skos:exactMatch HGNC:19019 Unspecified TRIM46 +OMIM:600986 skos:exactMatch HGNC_symbol:TRIM46 Unspecified TRIM46 +OMIM:600986 skos:exactMatch UMLS:C1425956 Unspecified TRIM46 +OMIM:609334 skos:exactMatch UMLS:C1836305 Unspecified chromosome 18 pericentric inversion +OMIM:600985 skos:exactMatch HGNC:11976 Unspecified TNXB +OMIM:600985 skos:exactMatch UMLS:C1420850 Unspecified TNXB +OMIM:600985 skos:exactMatch HGNC_symbol:TNXB Unspecified TNXB +OMIM:609333 skos:exactMatch HGNC_symbol:TAAR1 Unspecified TAAR1 +OMIM:609333 skos:exactMatch UMLS:C1539908 Unspecified TAAR1 +OMIM:609333 skos:exactMatch HGNC:17734 Unspecified TAAR1 +OMIM:609332 skos:exactMatch HGNC_symbol:TTC7A Unspecified TTC7A +OMIM:609332 skos:exactMatch HGNC:19750 Unspecified TTC7A +OMIM:609332 skos:exactMatch UMLS:C1540111 Unspecified TTC7A +OMIM:600984 skos:exactMatch HGNC_symbol:ATF6B Unspecified ATF6B +OMIM:600984 skos:exactMatch HGNC:2349 Unspecified ATF6B +OMIM:600984 skos:exactMatch UMLS:C1413704 Unspecified ATF6B +OMIM:600983 skos:exactMatch UMLS:C1417835 Unspecified NR3C2 +OMIM:600983 skos:exactMatch HGNC_symbol:NR3C2 Unspecified NR3C2 +OMIM:600983 skos:exactMatch HGNC:7979 Unspecified NR3C2 +OMIM:600982 skos:exactMatch HGNC_symbol:MAP3K1 Unspecified MAP3K1 +OMIM:600982 skos:exactMatch UMLS:C1367675 Unspecified MAP3K1 +OMIM:600982 skos:exactMatch HGNC:6848 Unspecified MAP3K1 +OMIM:609338 skos:exactMatch UMLS:C1836302 Unspecified carotid intimal medial thickness 1 +OMIM:609337 skos:exactMatch HGNC:31542 Unspecified MIR155 +OMIM:609337 skos:exactMatch HGNC_symbol:MIR155 Unspecified MIR155 +OMIM:609337 skos:exactMatch UMLS:C1537811 Unspecified MIR155 +OMIM:600981 skos:exactMatch HGNC:8908 Unspecified PGM5 +OMIM:600981 skos:exactMatch HGNC_symbol:PGM5 Unspecified PGM5 +OMIM:600981 skos:exactMatch UMLS:C1418519 Unspecified PGM5 +OMIM:609336 skos:exactMatch HGNC:23140 Unspecified ANGPTL6 +OMIM:609336 skos:exactMatch HGNC_symbol:ANGPTL6 Unspecified ANGPTL6 +OMIM:609336 skos:exactMatch UMLS:C1427941 Unspecified ANGPTL6 +OMIM:600980 skos:exactMatch UMLS:C1414084 Unspecified DMP1 +OMIM:600980 skos:exactMatch HGNC:2932 Unspecified DMP1 +OMIM:600980 skos:exactMatch HGNC_symbol:DMP1 Unspecified DMP1 +OMIM:610309 skos:exactMatch UMLS:C1442769 Unspecified UBE2S +OMIM:610309 skos:exactMatch HGNC_symbol:UBE2S Unspecified UBE2S +OMIM:610309 skos:exactMatch HGNC:17895 Unspecified UBE2S +OMIM:609319 skos:exactMatch UMLS:C1969258 Unspecified hematocrit/hemoglobin quantitative trait locus 1 +OMIM:609318 skos:exactMatch HGNC_symbol:TRIM45 Unspecified TRIM45 +OMIM:609318 skos:exactMatch UMLS:C1425955 Unspecified TRIM45 +OMIM:609318 skos:exactMatch HGNC:19018 Unspecified TRIM45 +OMIM:610306 skos:exactMatch UMLS:C1826466 Unspecified NPNT +OMIM:610306 skos:exactMatch HGNC_symbol:NPNT Unspecified NPNT +OMIM:610306 skos:exactMatch HGNC:27405 Unspecified NPNT +OMIM:612969 skos:exactMatch HGNC:18331 Unspecified TIGD7 +OMIM:612969 skos:exactMatch HGNC_symbol:TIGD7 Unspecified TIGD7 +OMIM:612969 skos:exactMatch UMLS:C1425451 Unspecified TIGD7 +OMIM:610305 skos:exactMatch UMLS:C1539272 Unspecified DERL3 +OMIM:610305 skos:exactMatch HGNC_symbol:DERL3 Unspecified DERL3 +OMIM:610305 skos:exactMatch HGNC:14236 Unspecified DERL3 +OMIM:610308 skos:exactMatch UMLS:C1825855 Unspecified B3GLCT +OMIM:610308 skos:exactMatch HGNC_symbol:B3GLCT Unspecified B3GLCT +OMIM:610308 skos:exactMatch HGNC:20207 Unspecified B3GLCT +OMIM:612967 skos:exactMatch UMLS:C2751823 Unspecified body mass index quantitative trait locus 15 +OMIM:610307 skos:exactMatch HGNC:19256 Unspecified CERK +OMIM:610307 skos:exactMatch UMLS:C1426121 Unspecified CERK +OMIM:610307 skos:exactMatch HGNC_symbol:CERK Unspecified CERK +OMIM:612968 skos:exactMatch UMLS:C2751822 Unspecified cataract 34, multiple types +OMIM:612965 skos:exactMatch UMLS:C3489793 Unspecified 46,xy sex reversal 3 +OMIM:610302 skos:exactMatch UMLS:C1825028 Unspecified EDEM2 +OMIM:610302 skos:exactMatch HGNC_symbol:EDEM2 Unspecified EDEM2 +OMIM:610302 skos:exactMatch HGNC:15877 Unspecified EDEM2 +OMIM:610301 skos:exactMatch HGNC:25572 Unspecified TMEM57 +OMIM:610301 skos:exactMatch HGNC_symbol:MACO1 Unspecified TMEM57 +OMIM:610301 skos:exactMatch UMLS:C1823319 Unspecified TMEM57 +OMIM:612966 skos:exactMatch UMLS:C1419193 Unspecified RAB22A +OMIM:612966 skos:exactMatch HGNC:9764 Unspecified RAB22A +OMIM:612966 skos:exactMatch HGNC_symbol:RAB22A Unspecified RAB22A +OMIM:610304 skos:exactMatch UMLS:C1539271 Unspecified DERL2 +OMIM:610304 skos:exactMatch HGNC_symbol:DERL2 Unspecified DERL2 +OMIM:610304 skos:exactMatch HGNC:17943 Unspecified DERL2 +OMIM:612963 skos:exactMatch HGNC_symbol:DCTN6 Unspecified DCTN6 +OMIM:612963 skos:exactMatch HGNC:16964 Unspecified DCTN6 +OMIM:612963 skos:exactMatch UMLS:C1424666 Unspecified DCTN6 +OMIM:610303 skos:exactMatch HGNC:23145 Unspecified MAFA +OMIM:610303 skos:exactMatch HGNC_symbol:MAFA Unspecified MAFA +OMIM:610303 skos:exactMatch UMLS:C1427946 Unspecified MAFA +OMIM:612964 skos:exactMatch UMLS:C4479664 Unspecified premature ovarian failure 7 +OMIM:612964 skos:exactMatch UMLS:C2751825 Unspecified premature ovarian failure 7 +OMIM:612961 skos:exactMatch UMLS:C2751826 Unspecified multiple synostoses syndrome 3 +OMIM:612961 skos:exactMatch ORPHA:3237 Unspecified multiple synostoses syndrome 3 +OMIM:612962 skos:exactMatch HGNC:24594 Unspecified DCTN5 +OMIM:612962 skos:exactMatch UMLS:C1824893 Unspecified DCTN5 +OMIM:612962 skos:exactMatch HGNC_symbol:DCTN5 Unspecified DCTN5 +OMIM:610300 skos:exactMatch UMLS:C1428591 Unspecified SLC6A18 +OMIM:610300 skos:exactMatch HGNC:26441 Unspecified SLC6A18 +OMIM:610300 skos:exactMatch HGNC_symbol:SLC6A18 Unspecified SLC6A18 +OMIM:612960 skos:exactMatch UMLS:C1826779 Unspecified ESRP2 +OMIM:612960 skos:exactMatch HGNC:26152 Unspecified ESRP2 +OMIM:612960 skos:exactMatch HGNC_symbol:ESRP2 Unspecified ESRP2 +OMIM:609320 skos:exactMatch UMLS:C1969257 Unspecified hematocrit/hemoglobin quantitative trait locus 2 +OMIM:257220 skos:exactMatch UMLS:C0220756 Unspecified niemann-pick disease, iia c1 +OMIM:257220 skos:exactMatch UMLS:C3179455 Unspecified niemann-pick disease, iia c1 +OMIM:257220 skos:exactMatch ORPHA:646 Unspecified niemann-pick disease, iia c1 +OMIM:600999 skos:exactMatch HGNC:6914 Unspecified MAZ +OMIM:600999 skos:exactMatch UMLS:C1417047 Unspecified MAZ +OMIM:600999 skos:exactMatch HGNC_symbol:MAZ Unspecified MAZ +OMIM:600998 skos:exactMatch UMLS:C4016711 Unspecified GNAQ +OMIM:600998 skos:exactMatch HGNC:4390 Unspecified GNAQ +OMIM:600998 skos:exactMatch HGNC_symbol:GNAQ Unspecified GNAQ +OMIM:600998 skos:exactMatch UMLS:C3806954 Unspecified GNAQ +OMIM:600998 skos:exactMatch UMLS:C1333685 Unspecified GNAQ +OMIM:609324 skos:exactMatch UMLS:C1836315 Unspecified epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia +OMIM:304150 skos:exactMatch UMLS:C0268353 Unspecified occipital horn syndrome +OMIM:609323 skos:exactMatch UMLS:C1425231 Unspecified OLIG3 +OMIM:609323 skos:exactMatch HGNC:18003 Unspecified OLIG3 +OMIM:609323 skos:exactMatch HGNC_symbol:OLIG3 Unspecified OLIG3 +OMIM:600997 skos:exactMatch HGNC:3393 Unspecified EPHB2 +OMIM:600997 skos:exactMatch UMLS:C1333340 Unspecified EPHB2 +OMIM:600997 skos:exactMatch HGNC_symbol:EPHB2 Unspecified EPHB2 +OMIM:600996 skos:exactMatch UMLS:C1832931 Unspecified arrhythmogenic right ventricular dysplasia, familial, 2 +OMIM:609322 skos:exactMatch ORPHA:231108 Unspecified rhabdoid tumor predisposition syndrome 1 +OMIM:609322 skos:exactMatch ORPHA:69077 Unspecified rhabdoid tumor predisposition syndrome 1 +OMIM:609322 skos:exactMatch ORPHA:99966 Unspecified rhabdoid tumor predisposition syndrome 1 +OMIM:609322 skos:exactMatch UMLS:C0206743 Unspecified rhabdoid tumor predisposition syndrome 1 +OMIM:609322 skos:exactMatch UMLS:C1836327 Unspecified rhabdoid tumor predisposition syndrome 1 +OMIM:609321 skos:exactMatch UMLS:C1822613 Unspecified SASS6 +OMIM:609321 skos:exactMatch HGNC:25403 Unspecified SASS6 +OMIM:609321 skos:exactMatch UMLS:C4225338 Unspecified SASS6 +OMIM:609321 skos:exactMatch HGNC_symbol:SASS6 Unspecified SASS6 +OMIM:600995 skos:exactMatch UMLS:C1868672 Unspecified nephrotic syndrome, iia 2 +OMIM:600995 skos:exactMatch UMLS:C3496337 Unspecified nephrotic syndrome, iia 2 +OMIM:600994 skos:exactMatch UMLS:C1832932 Unspecified deafness, autosomal dominant 5 +OMIM:609328 skos:exactMatch HGNC:14859 Unspecified UCK1 +OMIM:609328 skos:exactMatch UMLS:C1540156 Unspecified UCK1 +OMIM:609328 skos:exactMatch HGNC_symbol:UCK1 Unspecified UCK1 +OMIM:609327 skos:exactMatch HGNC:31502 Unspecified MIR124-1 +OMIM:609327 skos:exactMatch UMLS:C1836306 Unspecified MIR124-1 +OMIM:609327 skos:exactMatch HGNC_symbol:MIR124-1 Unspecified MIR124-1 +OMIM:600993 skos:exactMatch HGNC_symbol:SMAD4 Unspecified SMAD4 +OMIM:600993 skos:exactMatch UMLS:C3836560 Unspecified SMAD4 +OMIM:600993 skos:exactMatch UMLS:C0796081 Unspecified SMAD4 +OMIM:600993 skos:exactMatch UMLS:C0694891 Unspecified SMAD4 +OMIM:600993 skos:exactMatch UMLS:C0345893 Unspecified SMAD4 +OMIM:600993 skos:exactMatch HGNC:6770 Unspecified SMAD4 +OMIM:600993 skos:exactMatch UMLS:C1832942 Unspecified SMAD4 +OMIM:600993 skos:exactMatch UMLS:C1832940 Unspecified SMAD4 +OMIM:609326 skos:exactMatch HGNC:31499 Unspecified MIR1-1 +OMIM:609326 skos:exactMatch HGNC_symbol:MIR1-1 Unspecified MIR1-1 +OMIM:609326 skos:exactMatch UMLS:C1537699 Unspecified MIR1-1 +OMIM:609325 skos:exactMatch UMLS:C1836307 Unspecified epiphyseal dysplasia, multiple, with miniepiphyses +OMIM:600991 skos:exactMatch UMLS:C3551260 Unspecified hydrocephalus, sprengel anomaly, and costovertebral dysplasia +OMIM:610258 skos:exactMatch UMLS:C1822670 Unspecified SEC31B +OMIM:610258 skos:exactMatch HGNC:23197 Unspecified SEC31B +OMIM:610258 skos:exactMatch HGNC_symbol:SEC31B Unspecified SEC31B +OMIM:610257 skos:exactMatch UMLS:C1822669 Unspecified SEC31A +OMIM:610257 skos:exactMatch HGNC_symbol:SEC31A Unspecified SEC31A +OMIM:610257 skos:exactMatch HGNC:17052 Unspecified SEC31A +OMIM:610259 skos:exactMatch HGNC_symbol:LINC00163 Unspecified LINC00163 +OMIM:610259 skos:exactMatch HGNC:33165 Unspecified LINC00163 +OMIM:610259 skos:exactMatch UMLS:C1853229 Unspecified LINC00163 +OMIM:610254 skos:exactMatch HGNC:31517 Unspecified MIR133A1 +OMIM:610254 skos:exactMatch UMLS:C1537782 Unspecified MIR133A1 +OMIM:610254 skos:exactMatch HGNC_symbol:MIR133A1 Unspecified MIR133A1 +OMIM:610253 skos:exactMatch UMLS:C0795833 Unspecified kleefstra syndrome 1 +OMIM:610256 skos:exactMatch UMLS:C1853230 Unspecified anterior segment dysgenesis 2 +OMIM:610255 skos:exactMatch HGNC:31518 Unspecified MIR133A2 +OMIM:610255 skos:exactMatch UMLS:C1537783 Unspecified MIR133A2 +OMIM:610255 skos:exactMatch HGNC_symbol:MIR133A2 Unspecified MIR133A2 +OMIM:609272 skos:exactMatch HGNC:14118 Unspecified TPSD1 +OMIM:609272 skos:exactMatch HGNC_symbol:TPSD1 Unspecified TPSD1 +OMIM:609272 skos:exactMatch UMLS:C1422416 Unspecified TPSD1 +OMIM:610261 skos:exactMatch UMLS:C1853227 Unspecified hypertension, essential, susceptibility to, 5 +OMIM:610260 skos:exactMatch UMLS:C1853228 Unspecified pyloric stenosis, infantile hypertrophic, 2 +OMIM:609271 skos:exactMatch UMLS:C1836473 Unspecified keratoconus 4 +OMIM:610263 skos:exactMatch HGNC:30718 Unspecified DNAJB13 +OMIM:610263 skos:exactMatch UMLS:C1853225 Unspecified DNAJB13 +OMIM:610263 skos:exactMatch HGNC_symbol:DNAJB13 Unspecified DNAJB13 +OMIM:609270 skos:exactMatch UMLS:C1836474 Unspecified spinocerebellar ataxia, autosomal recessive 7 +OMIM:610262 skos:exactMatch UMLS:C1853226 Unspecified hypertension, essential, susceptibility to, 6 +OMIM:609276 skos:exactMatch HGNC:28952 Unspecified NCAPD3 +OMIM:609276 skos:exactMatch HGNC_symbol:NCAPD3 Unspecified NCAPD3 +OMIM:609276 skos:exactMatch UMLS:C1826381 Unspecified NCAPD3 +OMIM:609275 skos:exactMatch HGNC_symbol:RAB3GAP2 Unspecified RAB3GAP2 +OMIM:609275 skos:exactMatch HGNC:17168 Unspecified RAB3GAP2 +OMIM:609275 skos:exactMatch UMLS:C1826757 Unspecified RAB3GAP2 +OMIM:609274 skos:exactMatch UMLS:C1538032 Unspecified NACA2 +OMIM:609274 skos:exactMatch HGNC:23290 Unspecified NACA2 +OMIM:609274 skos:exactMatch HGNC_symbol:NACA2 Unspecified NACA2 +OMIM:609273 skos:exactMatch ORPHA:171439 Unspecified nemaline myopathy 6 +OMIM:609273 skos:exactMatch UMLS:C1836472 Unspecified nemaline myopathy 6 +OMIM:609279 skos:exactMatch HGNC_symbol:CENPJ Unspecified CENPJ +OMIM:609279 skos:exactMatch UMLS:C1424863 Unspecified CENPJ +OMIM:609279 skos:exactMatch HGNC:17272 Unspecified CENPJ +OMIM:609278 skos:exactMatch HGNC:28539 Unspecified IZUMO1 +OMIM:609278 skos:exactMatch HGNC_symbol:IZUMO1 Unspecified IZUMO1 +OMIM:609278 skos:exactMatch UMLS:C1825632 Unspecified IZUMO1 +OMIM:609277 skos:exactMatch HGNC:15765 Unspecified MOCS3 +OMIM:609277 skos:exactMatch UMLS:C1423714 Unspecified MOCS3 +OMIM:609277 skos:exactMatch HGNC_symbol:MOCS3 Unspecified MOCS3 +OMIM:610247 skos:exactMatch UMLS:C4551589 Unspecified esophagitis, eosinophilic, 1 +OMIM:610247 skos:exactMatch UMLS:C0341106 Unspecified esophagitis, eosinophilic, 1 +OMIM:610246 skos:exactMatch UMLS:C1853249 Unspecified spinocerebellar ataxia 28 +OMIM:610246 skos:exactMatch ORPHA:101109 Unspecified spinocerebellar ataxia 28 +OMIM:610249 skos:exactMatch HGNC_symbol:POFUT2 Unspecified POFUT2 +OMIM:610249 skos:exactMatch HGNC:14683 Unspecified POFUT2 +OMIM:610249 skos:exactMatch UMLS:C1538692 Unspecified POFUT2 +OMIM:610248 skos:exactMatch UMLS:C1853248 Unspecified deafness, autosomal recessive 65 +OMIM:610243 skos:exactMatch HGNC:26559 Unspecified ZFYVE27 +OMIM:610243 skos:exactMatch HGNC_symbol:ZFYVE27 Unspecified ZFYVE27 +OMIM:610243 skos:exactMatch UMLS:C1428605 Unspecified ZFYVE27 +OMIM:610242 skos:exactMatch UMLS:C1424762 Unspecified C7ORF13 +OMIM:610242 skos:exactMatch HGNC_symbol:RNF32-DT Unspecified C7ORF13 +OMIM:610242 skos:exactMatch HGNC:48971 Unspecified C7ORF13 +OMIM:610245 skos:exactMatch UMLS:C1853250 Unspecified spinocerebellar ataxia 23 +OMIM:610244 skos:exactMatch UMLS:C1853251 Unspecified spastic paraplegia 33, autosomal dominant +OMIM:609261 skos:exactMatch UMLS:C1836484 Unspecified stuttering, familial persistent, 2 +OMIM:610250 skos:exactMatch UMLS:C1853247 Unspecified spastic paraplegia 31, autosomal dominant +OMIM:609260 skos:exactMatch UMLS:C4721887 Unspecified charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a +OMIM:609260 skos:exactMatch ORPHA:99947 Unspecified charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a +OMIM:609260 skos:exactMatch UMLS:C1836485 Unspecified charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a +OMIM:610252 skos:exactMatch HGNC_symbol:MIR1-2 Unspecified MIR1-2 +OMIM:610252 skos:exactMatch UMLS:C1537700 Unspecified MIR1-2 +OMIM:610252 skos:exactMatch HGNC:31500 Unspecified MIR1-2 +OMIM:610251 skos:exactMatch UMLS:C2674838 Unspecified alcohol sensitivity, acute +OMIM:610251 skos:exactMatch UMLS:C2608086 Unspecified alcohol sensitivity, acute +OMIM:609265 skos:exactMatch UMLS:C1836482 Unspecified li-fraumeni syndrome 2 +OMIM:257200 skos:exactMatch UMLS:C0268242 Unspecified niemann-pick disease, iia a +OMIM:257200 skos:exactMatch UMLS:C2675646 Unspecified niemann-pick disease, iia a +OMIM:609264 skos:exactMatch UMLS:C1428909 Unspecified NUP37 +OMIM:609264 skos:exactMatch HGNC:29929 Unspecified NUP37 +OMIM:609264 skos:exactMatch HGNC_symbol:NUP37 Unspecified NUP37 +OMIM:609263 skos:exactMatch HGNC_symbol:SEH1L Unspecified SEH1L +OMIM:609263 skos:exactMatch HGNC:30379 Unspecified SEH1L +OMIM:609263 skos:exactMatch UMLS:C1539744 Unspecified SEH1L +OMIM:609262 skos:exactMatch HGNC:30185 Unspecified CRBN +OMIM:609262 skos:exactMatch HGNC_symbol:CRBN Unspecified CRBN +OMIM:609262 skos:exactMatch UMLS:C1539136 Unspecified CRBN +OMIM:609269 skos:exactMatch HGNC_symbol:KIAA0319 Unspecified KIAA0319 +OMIM:609269 skos:exactMatch HGNC:21580 Unspecified KIAA0319 +OMIM:609269 skos:exactMatch UMLS:C1427627 Unspecified KIAA0319 +OMIM:609268 skos:exactMatch HGNC:17882 Unspecified SREK1 +OMIM:609268 skos:exactMatch UMLS:C1425153 Unspecified SREK1 +OMIM:609268 skos:exactMatch HGNC_symbol:SREK1 Unspecified SREK1 +OMIM:609267 skos:exactMatch HGNC:29639 Unspecified MAGEF1 +OMIM:609267 skos:exactMatch HGNC_symbol:MAGEF1 Unspecified MAGEF1 +OMIM:609267 skos:exactMatch UMLS:C1537642 Unspecified MAGEF1 +OMIM:610239 skos:exactMatch UMLS:C1853253 Unspecified high density lipoprotein cholesterol level quantitative trait locus 4 +OMIM:610236 skos:exactMatch HGNC:21610 Unspecified LNPK +OMIM:610236 skos:exactMatch UMLS:C1427645 Unspecified LNPK +OMIM:610236 skos:exactMatch HGNC_symbol:LNPK Unspecified LNPK +OMIM:612899 skos:exactMatch UMLS:C2752062 Unspecified epilepsy, idiopathic generalized, susceptibility to, 8 +OMIM:610235 skos:exactMatch HGNC_symbol:MTFP1 Unspecified MTFP1 +OMIM:610235 skos:exactMatch HGNC:26945 Unspecified MTFP1 +OMIM:610235 skos:exactMatch UMLS:C1853254 Unspecified MTFP1 +OMIM:612897 skos:exactMatch HGNC_symbol:SEPTIN1 Unspecified SEPT1 +OMIM:612897 skos:exactMatch UMLS:C1414049 Unspecified SEPT1 +OMIM:612897 skos:exactMatch HGNC:2879 Unspecified SEPT1 +OMIM:610238 skos:exactMatch UMLS:C1427908 Unspecified SLC5A11 +OMIM:610238 skos:exactMatch HGNC:23091 Unspecified SLC5A11 +OMIM:610238 skos:exactMatch HGNC_symbol:SLC5A11 Unspecified SLC5A11 +OMIM:612898 skos:exactMatch UMLS:C1426339 Unspecified COQ4 +OMIM:612898 skos:exactMatch HGNC_symbol:COQ4 Unspecified COQ4 +OMIM:612898 skos:exactMatch HGNC:19693 Unspecified COQ4 +OMIM:610237 skos:exactMatch HGNC_symbol:MED30 Unspecified MED30 +OMIM:610237 skos:exactMatch UMLS:C1427864 Unspecified MED30 +OMIM:610237 skos:exactMatch HGNC:23032 Unspecified MED30 +OMIM:612895 skos:exactMatch UMLS:C1425235 Unspecified NXN +OMIM:612895 skos:exactMatch HGNC_symbol:NXN Unspecified NXN +OMIM:612895 skos:exactMatch HGNC:18008 Unspecified NXN +OMIM:610232 skos:exactMatch HGNC_symbol:ATP13A3 Unspecified ATP13A3 +OMIM:610232 skos:exactMatch HGNC:24113 Unspecified ATP13A3 +OMIM:610232 skos:exactMatch UMLS:C1540216 Unspecified ATP13A3 +OMIM:612896 skos:exactMatch HGNC_symbol:RDM1 Unspecified RDM1 +OMIM:612896 skos:exactMatch UMLS:C1826792 Unspecified RDM1 +OMIM:612896 skos:exactMatch HGNC:19950 Unspecified RDM1 +OMIM:610231 skos:exactMatch HGNC_symbol:PCGF1 Unspecified PCGF1 +OMIM:610231 skos:exactMatch UMLS:C1538597 Unspecified PCGF1 +OMIM:610231 skos:exactMatch HGNC:17615 Unspecified PCGF1 +OMIM:612893 skos:exactMatch UMLS:C2752064 Unspecified stature quantitative trait locus 19 +OMIM:610234 skos:exactMatch UMLS:C1853255 Unspecified synpolydactyly 3 +OMIM:612894 skos:exactMatch UMLS:C2752063 Unspecified stature quantitative trait locus 20 +OMIM:609250 skos:exactMatch UMLS:C1836521 Unspecified hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate +OMIM:610241 skos:exactMatch UMLS:C1424755 Unspecified RNF32 +OMIM:610241 skos:exactMatch HGNC_symbol:RNF32 Unspecified RNF32 +OMIM:610241 skos:exactMatch HGNC:17118 Unspecified RNF32 +OMIM:610240 skos:exactMatch HGNC_symbol:LHFPL4 Unspecified LHFPL4 +OMIM:610240 skos:exactMatch UMLS:C1416848 Unspecified LHFPL4 +OMIM:610240 skos:exactMatch HGNC:29568 Unspecified LHFPL4 +OMIM:609254 skos:exactMatch UMLS:C1836517 Unspecified senior-loken syndrome 5 +OMIM:609253 skos:exactMatch UMLS:C1836518 Unspecified febrile seizures, familial, 6 +OMIM:609252 skos:exactMatch HGNC:18821 Unspecified LIPI +OMIM:609252 skos:exactMatch HGNC_symbol:LIPI Unspecified LIPI +OMIM:609252 skos:exactMatch UMLS:C1425800 Unspecified LIPI +OMIM:609251 skos:exactMatch HGNC:26431 Unspecified FCRLB +OMIM:609251 skos:exactMatch HGNC_symbol:FCRLB Unspecified FCRLB +OMIM:609251 skos:exactMatch UMLS:C1825287 Unspecified FCRLB +OMIM:609258 skos:exactMatch UMLS:C1836504 Unspecified myopia 9 +OMIM:609257 skos:exactMatch UMLS:C1836505 Unspecified myopia 8 +OMIM:609256 skos:exactMatch UMLS:C1836506 Unspecified myopia 7 +OMIM:609255 skos:exactMatch UMLS:C1836507 Unspecified febrile seizures, familial, 5 +OMIM:609259 skos:exactMatch UMLS:C1836503 Unspecified myopia 10 +OMIM:272800 skos:exactMatch UMLS:C1848916 Unspecified tay-sachs disease +OMIM:272800 skos:exactMatch UMLS:C1848917 Unspecified tay-sachs disease +OMIM:272800 skos:exactMatch UMLS:C1848914 Unspecified tay-sachs disease +OMIM:272800 skos:exactMatch UMLS:C1848915 Unspecified tay-sachs disease +OMIM:272800 skos:exactMatch UMLS:C1848913 Unspecified tay-sachs disease +OMIM:272800 skos:exactMatch UMLS:C0039373 Unspecified tay-sachs disease +OMIM:272800 skos:exactMatch UMLS:C2749283 Unspecified tay-sachs disease +OMIM:306800 skos:exactMatch UMLS:C1844137 Unspecified hemophilia a with vascular abnormality +OMIM:245200 skos:exactMatch UMLS:C0023521 Unspecified krabbe disease +OMIM:610229 skos:exactMatch HGNC:16664 Unspecified CAPN14 +OMIM:610229 skos:exactMatch UMLS:C1539061 Unspecified CAPN14 +OMIM:610229 skos:exactMatch HGNC_symbol:CAPN14 Unspecified CAPN14 +OMIM:610228 skos:exactMatch HGNC:16663 Unspecified CAPN13 +OMIM:610228 skos:exactMatch UMLS:C1539060 Unspecified CAPN13 +OMIM:610228 skos:exactMatch HGNC_symbol:CAPN13 Unspecified CAPN13 +OMIM:612888 skos:exactMatch UMLS:C1825877 Unspecified LRRC8B +OMIM:612888 skos:exactMatch HGNC:30692 Unspecified LRRC8B +OMIM:612888 skos:exactMatch HGNC_symbol:LRRC8B Unspecified LRRC8B +OMIM:610225 skos:exactMatch HGNC_symbol:RPS19BP1 Unspecified RPS19BP1 +OMIM:610225 skos:exactMatch HGNC:28749 Unspecified RPS19BP1 +OMIM:610225 skos:exactMatch UMLS:C1826912 Unspecified RPS19BP1 +OMIM:610224 skos:exactMatch HGNC_symbol:SOHLH1 Unspecified SOHLH1 +OMIM:610224 skos:exactMatch UMLS:C1853260 Unspecified SOHLH1 +OMIM:610224 skos:exactMatch HGNC:27845 Unspecified SOHLH1 +OMIM:612889 skos:exactMatch UMLS:C1825878 Unspecified LRRC8C +OMIM:612889 skos:exactMatch HGNC:25075 Unspecified LRRC8C +OMIM:612889 skos:exactMatch HGNC_symbol:LRRC8C Unspecified LRRC8C +OMIM:610227 skos:exactMatch UMLS:C1853258 Unspecified seborrhea-like dermatitis with psoriasiform elements +OMIM:612886 skos:exactMatch UMLS:C2752066 Unspecified menopause, natural, age at, quantitative trait locus 4 +OMIM:610226 skos:exactMatch UMLS:C1824035 Unspecified ZNF750 +OMIM:610226 skos:exactMatch HGNC_symbol:ZNF750 Unspecified ZNF750 +OMIM:610226 skos:exactMatch HGNC:25843 Unspecified ZNF750 +OMIM:612887 skos:exactMatch HGNC_symbol:SEPTIN11 Unspecified SEPT11 +OMIM:612887 skos:exactMatch HGNC:25589 Unspecified SEPT11 +OMIM:612887 skos:exactMatch UMLS:C1539751 Unspecified SEPT11 +OMIM:612884 skos:exactMatch UMLS:C2752068 Unspecified menopause, natural, age at, quantitative trait locus 2 +OMIM:610221 skos:exactMatch UMLS:C1428707 Unspecified AKT1S1 +OMIM:610221 skos:exactMatch HGNC:28426 Unspecified AKT1S1 +OMIM:610221 skos:exactMatch HGNC_symbol:AKT1S1 Unspecified AKT1S1 +OMIM:610220 skos:exactMatch UMLS:C1857744 Unspecified deafness, autosomal recessive 59 +OMIM:612885 skos:exactMatch UMLS:C4225402 Unspecified premature ovarian failure 10 +OMIM:612885 skos:exactMatch UMLS:C2752067 Unspecified premature ovarian failure 10 +OMIM:612882 skos:exactMatch UMLS:C2752070 Unspecified menarche, age at, quantitative trait locus 2 +OMIM:610223 skos:exactMatch HGNC_symbol:RIN3 Unspecified RIN3 +OMIM:610223 skos:exactMatch UMLS:C1425757 Unspecified RIN3 +OMIM:610223 skos:exactMatch HGNC:18751 Unspecified RIN3 +OMIM:610222 skos:exactMatch UMLS:C1425756 Unspecified RIN2 +OMIM:610222 skos:exactMatch HGNC_symbol:RIN2 Unspecified RIN2 +OMIM:610222 skos:exactMatch HGNC:18750 Unspecified RIN2 +OMIM:610222 skos:exactMatch UMLS:C2751321 Unspecified RIN2 +OMIM:612883 skos:exactMatch UMLS:C2752069 Unspecified menarche, age at, quantitative trait locus 3 +OMIM:612891 skos:exactMatch HGNC:26272 Unspecified LRRC8E +OMIM:612891 skos:exactMatch HGNC_symbol:LRRC8E Unspecified LRRC8E +OMIM:612891 skos:exactMatch UMLS:C1825880 Unspecified LRRC8E +OMIM:612892 skos:exactMatch UMLS:C2752065 Unspecified stature quantitative trait locus 18 +OMIM:610230 skos:exactMatch HGNC_symbol:TRMU Unspecified TRMU +OMIM:610230 skos:exactMatch HGNC:25481 Unspecified TRMU +OMIM:610230 skos:exactMatch UMLS:C1823502 Unspecified TRMU +OMIM:612890 skos:exactMatch HGNC_symbol:LRRC8D Unspecified LRRC8D +OMIM:612890 skos:exactMatch UMLS:C1825879 Unspecified LRRC8D +OMIM:612890 skos:exactMatch HGNC:16992 Unspecified LRRC8D +OMIM:609243 skos:exactMatch HGNC_symbol:RAET1E Unspecified RAET1E +OMIM:609243 skos:exactMatch HGNC:16793 Unspecified RAET1E +OMIM:609243 skos:exactMatch UMLS:C1424552 Unspecified RAET1E +OMIM:609242 skos:exactMatch UMLS:C1836522 Unspecified kanzaki disease +OMIM:609241 skos:exactMatch UMLS:C1836545 Unspecified schindler disease, iia 1 +OMIM:609241 skos:exactMatch UMLS:C1836544 Unspecified schindler disease, iia 1 +OMIM:609240 skos:exactMatch HGNC_symbol:HASPIN Unspecified HASPIN +OMIM:609240 skos:exactMatch UMLS:C1539621 Unspecified HASPIN +OMIM:609240 skos:exactMatch HGNC:19682 Unspecified HASPIN +OMIM:609247 skos:exactMatch HGNC:10057 Unspecified RNF13 +OMIM:609247 skos:exactMatch UMLS:C5193065 Unspecified RNF13 +OMIM:609247 skos:exactMatch UMLS:C1419415 Unspecified RNF13 +OMIM:609247 skos:exactMatch HGNC_symbol:RNF13 Unspecified RNF13 +OMIM:609246 skos:exactMatch UMLS:C1428948 Unspecified PDXP +OMIM:609246 skos:exactMatch HGNC:30259 Unspecified PDXP +OMIM:609246 skos:exactMatch HGNC_symbol:PDXP Unspecified PDXP +OMIM:609246 skos:exactMatch UMLS:C4479710 Unspecified PDXP +OMIM:609245 skos:exactMatch UMLS:C1428865 Unspecified GPSM2 +OMIM:609245 skos:exactMatch HGNC:29501 Unspecified GPSM2 +OMIM:609245 skos:exactMatch HGNC_symbol:GPSM2 Unspecified GPSM2 +OMIM:609244 skos:exactMatch HGNC_symbol:RAET1G Unspecified RAET1G +OMIM:609244 skos:exactMatch HGNC:16795 Unspecified RAET1G +OMIM:609244 skos:exactMatch UMLS:C1424554 Unspecified RAET1G +OMIM:609249 skos:exactMatch HGNC_symbol:HERC6 Unspecified HERC6 +OMIM:609249 skos:exactMatch HGNC:26072 Unspecified HERC6 +OMIM:609249 skos:exactMatch UMLS:C1539665 Unspecified HERC6 +OMIM:609248 skos:exactMatch HGNC:24521 Unspecified HERC4 +OMIM:609248 skos:exactMatch HGNC_symbol:HERC4 Unspecified HERC4 +OMIM:609248 skos:exactMatch UMLS:C1539664 Unspecified HERC4 +OMIM:208230 skos:exactMatch ORPHA:1159 Unspecified progressive pseudorheumatoid dysplasia +OMIM:208230 skos:exactMatch UMLS:C0432215 Unspecified progressive pseudorheumatoid dysplasia +OMIM:610298 skos:exactMatch HGNC_symbol:PHLDB2 Unspecified PHLDB2 +OMIM:610298 skos:exactMatch HGNC:29573 Unspecified PHLDB2 +OMIM:610298 skos:exactMatch UMLS:C1428878 Unspecified PHLDB2 +OMIM:610297 skos:exactMatch UMLS:C1853202 Unspecified parkinson disease 13, autosomal dominant, susceptibility to +OMIM:221200 skos:exactMatch UMLS:C3806275 Unspecified deafness and myopia +OMIM:610299 skos:exactMatch UMLS:C1429203 Unspecified SLC6A17 +OMIM:610299 skos:exactMatch HGNC:31399 Unspecified SLC6A17 +OMIM:610299 skos:exactMatch HGNC_symbol:SLC6A17 Unspecified SLC6A17 +OMIM:304200 skos:exactMatch UMLS:C0795848 Unspecified cutis verticis gyrata, thyroid aplasia, and mental retardation +OMIM:610287 skos:exactMatch HGNC:28155 Unspecified FBXL15 +OMIM:610287 skos:exactMatch HGNC_symbol:FBXL15 Unspecified FBXL15 +OMIM:610287 skos:exactMatch UMLS:C1539482 Unspecified FBXL15 +OMIM:610286 skos:exactMatch HGNC:17557 Unspecified LCMT1 +OMIM:610286 skos:exactMatch HGNC_symbol:LCMT1 Unspecified LCMT1 +OMIM:610286 skos:exactMatch UMLS:C1424996 Unspecified LCMT1 +OMIM:610289 skos:exactMatch HGNC:18606 Unspecified OXCT2 +OMIM:610289 skos:exactMatch UMLS:C1425642 Unspecified OXCT2 +OMIM:610289 skos:exactMatch HGNC_symbol:OXCT2 Unspecified OXCT2 +OMIM:610288 skos:exactMatch UMLS:C1422069 Unspecified GOLGA6A +OMIM:610288 skos:exactMatch HGNC:13567 Unspecified GOLGA6A +OMIM:610288 skos:exactMatch HGNC_symbol:GOLGA6A Unspecified GOLGA6A +OMIM:260800 skos:exactMatch UMLS:C0268162 Unspecified pentosuria +OMIM:610294 skos:exactMatch UMLS:C1853204 Unspecified intelligence quantitative trait locus 2 +OMIM:610293 skos:exactMatch UMLS:C1853205 Unspecified glycosylphosphatidylinositol biosynthesis defect 1 +OMIM:610293 skos:exactMatch ORPHA:83639 Unspecified glycosylphosphatidylinositol biosynthesis defect 1 +OMIM:610293 skos:exactMatch UMLS:C5201145 Unspecified glycosylphosphatidylinositol biosynthesis defect 1 +OMIM:610296 skos:exactMatch HGNC:22208 Unspecified NUDCD3 +OMIM:610296 skos:exactMatch HGNC_symbol:NUDCD3 Unspecified NUDCD3 +OMIM:610296 skos:exactMatch UMLS:C1538498 Unspecified NUDCD3 +OMIM:610295 skos:exactMatch UMLS:C1853203 Unspecified intelligence quantitative trait locus 3 +OMIM:610290 skos:exactMatch UMLS:C1426502 Unspecified GALNT12 +OMIM:610290 skos:exactMatch HGNC_symbol:GALNT12 Unspecified GALNT12 +OMIM:610290 skos:exactMatch HGNC:19877 Unspecified GALNT12 +OMIM:610292 skos:exactMatch UMLS:C1425385 Unspecified BANK1 +OMIM:610292 skos:exactMatch HGNC_symbol:BANK1 Unspecified BANK1 +OMIM:610292 skos:exactMatch HGNC:18233 Unspecified BANK1 +OMIM:610291 skos:exactMatch UMLS:C1428988 Unspecified SV2C +OMIM:610291 skos:exactMatch HGNC:30670 Unspecified SV2C +OMIM:610291 skos:exactMatch HGNC_symbol:SV2C Unspecified SV2C +OMIM:235830 skos:exactMatch UMLS:C0268642 Unspecified histidinuria due to a renal tubular defect +OMIM:208250 skos:exactMatch UMLS:C1859690 Unspecified camptodactyly-arthropathy-coxa vara-pericarditis syndrome +OMIM:610279 skos:exactMatch UMLS:C1853215 Unspecified pachygyria, frontotemporal +OMIM:609290 skos:exactMatch HGNC:17376 Unspecified AK3 +OMIM:609290 skos:exactMatch HGNC_symbol:AK3 Unspecified AK3 +OMIM:609290 skos:exactMatch UMLS:C1412307 Unspecified AK3 +OMIM:610276 skos:exactMatch UMLS:C1538645 Unspecified PIGX +OMIM:610276 skos:exactMatch HGNC_symbol:PIGX Unspecified PIGX +OMIM:610276 skos:exactMatch HGNC:26046 Unspecified PIGX +OMIM:610275 skos:exactMatch HGNC:23213 Unspecified PIGW +OMIM:610275 skos:exactMatch HGNC_symbol:PIGW Unspecified PIGW +OMIM:610275 skos:exactMatch UMLS:C1427992 Unspecified PIGW +OMIM:610278 skos:exactMatch UMLS:C1853216 Unspecified None +OMIM:610278 skos:exactMatch HGNC_symbol:PEAR1 Unspecified None +OMIM:610278 skos:exactMatch HGNC:33631 Unspecified None +OMIM:610277 skos:exactMatch HGNC:25896 Unspecified ORAI1 +OMIM:610277 skos:exactMatch HGNC_symbol:ORAI1 Unspecified ORAI1 +OMIM:610277 skos:exactMatch UMLS:C1823405 Unspecified ORAI1 +OMIM:610283 skos:exactMatch UMLS:C1846529 Unspecified cone-rod dystrophy 10 +OMIM:609294 skos:exactMatch UMLS:C1419958 Unspecified SEMA6C +OMIM:609294 skos:exactMatch HGNC:10740 Unspecified SEMA6C +OMIM:609294 skos:exactMatch HGNC_symbol:SEMA6C Unspecified SEMA6C +OMIM:610282 skos:exactMatch UMLS:C1853214 Unspecified retinitis pigmentosa 35 +OMIM:609293 skos:exactMatch UMLS:C1429057 Unspecified SPRED3 +OMIM:609293 skos:exactMatch HGNC_symbol:SPRED3 Unspecified SPRED3 +OMIM:609293 skos:exactMatch HGNC:31041 Unspecified SPRED3 +OMIM:610285 skos:exactMatch UMLS:C1824957 Unspecified DOK7 +OMIM:610285 skos:exactMatch HGNC_symbol:DOK7 Unspecified DOK7 +OMIM:610285 skos:exactMatch HGNC:26594 Unspecified DOK7 +OMIM:610285 skos:exactMatch UMLS:C1850792 Unspecified DOK7 +OMIM:610285 skos:exactMatch UMLS:C4760599 Unspecified DOK7 +OMIM:609292 skos:exactMatch HGNC_symbol:SPRED2 Unspecified SPRED2 +OMIM:609292 skos:exactMatch HGNC:17722 Unspecified SPRED2 +OMIM:609292 skos:exactMatch UMLS:C1425048 Unspecified SPRED2 +OMIM:610284 skos:exactMatch HGNC_symbol:LIPT1 Unspecified LIPT1 +OMIM:610284 skos:exactMatch HGNC:29569 Unspecified LIPT1 +OMIM:610284 skos:exactMatch UMLS:C1428876 Unspecified LIPT1 +OMIM:609291 skos:exactMatch HGNC_symbol:SPRED1 Unspecified SPRED1 +OMIM:609291 skos:exactMatch HGNC:20249 Unspecified SPRED1 +OMIM:609291 skos:exactMatch UMLS:C1426807 Unspecified SPRED1 +OMIM:609298 skos:exactMatch UMLS:C1419955 Unspecified SEMA5B +OMIM:609298 skos:exactMatch HGNC:10737 Unspecified SEMA5B +OMIM:609298 skos:exactMatch HGNC_symbol:SEMA5B Unspecified SEMA5B +OMIM:609297 skos:exactMatch UMLS:C1419954 Unspecified SEMA5A +OMIM:609297 skos:exactMatch HGNC:10736 Unspecified SEMA5A +OMIM:609297 skos:exactMatch HGNC_symbol:SEMA5A Unspecified SEMA5A +OMIM:610281 skos:exactMatch UMLS:C1428013 Unspecified ZFP62 +OMIM:610281 skos:exactMatch HGNC_symbol:ZFP62 Unspecified ZFP62 +OMIM:610281 skos:exactMatch HGNC:23241 Unspecified ZFP62 +OMIM:609296 skos:exactMatch UMLS:C1836437 Unspecified b-cell immunodeficiency, distal limb anomalies, and urogenital malformations +OMIM:610280 skos:exactMatch UMLS:C1428912 Unspecified OSTN +OMIM:610280 skos:exactMatch HGNC_symbol:OSTN Unspecified OSTN +OMIM:610280 skos:exactMatch HGNC:29961 Unspecified OSTN +OMIM:609295 skos:exactMatch UMLS:C1539745 Unspecified SEMA6D +OMIM:609295 skos:exactMatch HGNC_symbol:SEMA6D Unspecified SEMA6D +OMIM:609295 skos:exactMatch HGNC:16770 Unspecified SEMA6D +OMIM:211890 skos:exactMatch UMLS:C1859371 Unspecified campomelia, cumming iia +OMIM:609299 skos:exactMatch UMLS:C1836436 Unspecified prostate cancer, hereditary, 5 +OMIM:610268 skos:exactMatch HGNC_symbol:MOGAT1 Unspecified MOGAT1 +OMIM:610268 skos:exactMatch HGNC:18210 Unspecified MOGAT1 +OMIM:610268 skos:exactMatch UMLS:C1537930 Unspecified MOGAT1 +OMIM:610265 skos:exactMatch UMLS:C1853223 Unspecified deafness, autosomal recessive 67 +OMIM:610264 skos:exactMatch UMLS:C1853224 Unspecified TEPP +OMIM:610264 skos:exactMatch HGNC_symbol:TEPP Unspecified TEPP +OMIM:610264 skos:exactMatch HGNC:33745 Unspecified TEPP +OMIM:610267 skos:exactMatch HGNC_symbol:METAP1D Unspecified METAP1D +OMIM:610267 skos:exactMatch UMLS:C1853222 Unspecified METAP1D +OMIM:610267 skos:exactMatch HGNC:32583 Unspecified METAP1D +OMIM:610266 skos:exactMatch UMLS:C1539922 Unspecified TAOK1 +OMIM:610266 skos:exactMatch HGNC:29259 Unspecified TAOK1 +OMIM:610266 skos:exactMatch HGNC_symbol:TAOK1 Unspecified TAOK1 +OMIM:609283 skos:exactMatch ORPHA:254892 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +OMIM:609283 skos:exactMatch UMLS:C1836460 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 +OMIM:610272 skos:exactMatch HGNC_symbol:PIGT Unspecified PIGT +OMIM:610272 skos:exactMatch HGNC:14938 Unspecified PIGT +OMIM:610272 skos:exactMatch UMLS:C1423070 Unspecified PIGT +OMIM:610271 skos:exactMatch HGNC_symbol:PIGS Unspecified PIGS +OMIM:610271 skos:exactMatch UMLS:C4748357 Unspecified PIGS +OMIM:610271 skos:exactMatch UMLS:C1423069 Unspecified PIGS +OMIM:610271 skos:exactMatch HGNC:14937 Unspecified PIGS +OMIM:609282 skos:exactMatch HGNC_symbol:MOB1B Unspecified MOB1B +OMIM:609282 skos:exactMatch UMLS:C1428892 Unspecified MOB1B +OMIM:609282 skos:exactMatch HGNC:29801 Unspecified MOB1B +OMIM:610274 skos:exactMatch HGNC_symbol:PIGV Unspecified PIGV +OMIM:610274 skos:exactMatch UMLS:C1538644 Unspecified PIGV +OMIM:610274 skos:exactMatch HGNC:26031 Unspecified PIGV +OMIM:609281 skos:exactMatch HGNC_symbol:MOB1A Unspecified MOB1A +OMIM:609281 skos:exactMatch UMLS:C1537929 Unspecified MOB1A +OMIM:609281 skos:exactMatch HGNC:16015 Unspecified MOB1A +OMIM:609280 skos:exactMatch HGNC_symbol:EIF2AK4 Unspecified EIF2AK4 +OMIM:609280 skos:exactMatch HGNC:19687 Unspecified EIF2AK4 +OMIM:609280 skos:exactMatch UMLS:C1426334 Unspecified EIF2AK4 +OMIM:610273 skos:exactMatch HGNC_symbol:PIGM Unspecified PIGM +OMIM:610273 skos:exactMatch HGNC:18858 Unspecified PIGM +OMIM:610273 skos:exactMatch UMLS:C1425829 Unspecified PIGM +OMIM:609287 skos:exactMatch HGNC_symbol:SH3GLB1 Unspecified SH3GLB1 +OMIM:609287 skos:exactMatch UMLS:C1420028 Unspecified SH3GLB1 +OMIM:609287 skos:exactMatch HGNC:10833 Unspecified SH3GLB1 +OMIM:609286 skos:exactMatch ORPHA:254892 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +OMIM:609286 skos:exactMatch UMLS:C1836439 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 +OMIM:610270 skos:exactMatch HGNC:23248 Unspecified MOGAT2 +OMIM:610270 skos:exactMatch UMLS:C1537931 Unspecified MOGAT2 +OMIM:610270 skos:exactMatch HGNC_symbol:MOGAT2 Unspecified MOGAT2 +OMIM:609285 skos:exactMatch UMLS:C3807907 Unspecified nemaline myopathy 4 +OMIM:609285 skos:exactMatch UMLS:C1836447 Unspecified nemaline myopathy 4 +OMIM:609284 skos:exactMatch ORPHA:171433 Unspecified nemaline myopathy 1 +OMIM:609284 skos:exactMatch ORPHA:171439 Unspecified nemaline myopathy 1 +OMIM:609284 skos:exactMatch ORPHA:171881 Unspecified nemaline myopathy 1 +OMIM:609284 skos:exactMatch UMLS:C3714994 Unspecified nemaline myopathy 1 +OMIM:609284 skos:exactMatch UMLS:C1836448 Unspecified nemaline myopathy 1 +OMIM:609289 skos:exactMatch UMLS:C1836438 Unspecified syncope, familial vasovagal +OMIM:609288 skos:exactMatch HGNC_symbol:SH3GLB2 Unspecified SH3GLB2 +OMIM:609288 skos:exactMatch UMLS:C1420029 Unspecified SH3GLB2 +OMIM:609288 skos:exactMatch HGNC:10834 Unspecified SH3GLB2 +OMIM:502500 skos:exactMatch UMLS:C1838990 Unspecified alzheimer disease, susceptibility to, mitochondrial +OMIM:235800 skos:exactMatch UMLS:C0220992 Unspecified histidinemia +OMIM:247800 skos:exactMatch UMLS:C1855470 Unspecified lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis +OMIM:125490 skos:exactMatch UMLS:C2973527 Unspecified dentinogenesis imperfecta 1 +OMIM:125485 skos:exactMatch HGNC_symbol:DSPP Unspecified DSPP +OMIM:125485 skos:exactMatch HGNC:3054 Unspecified DSPP +OMIM:125485 skos:exactMatch UMLS:C1414174 Unspecified DSPP +OMIM:125480 skos:exactMatch UMLS:C1852197 Unspecified major affective disorder 1 +OMIM:211800 skos:exactMatch UMLS:C1859372 Unspecified calcification of joints and arteries +OMIM:223800 skos:exactMatch UMLS:C0265286 Unspecified dyggve-melchior-clausen disease +OMIM:223800 skos:exactMatch ORPHA:239 Unspecified dyggve-melchior-clausen disease +OMIM:113477 skos:exactMatch UMLS:C1862082 Unspecified brachymorphism-onychodysplasia-dysphalangism syndrome +OMIM:137400 skos:exactMatch UMLS:C0040412 Unspecified geographic and fissured tongue +OMIM:137400 skos:exactMatch UMLS:C0017677 Unspecified geographic and fissured tongue +OMIM:137400 skos:exactMatch UMLS:C4540616 Unspecified geographic and fissured tongue +OMIM:113475 skos:exactMatch UMLS:C1862083 Unspecified brachymetatarsus 4 +OMIM:125460 skos:exactMatch UMLS:C1852200 Unspecified deoxyribose-5-phosphate aldolase deficiency +OMIM:125450 skos:exactMatch UMLS:C1333205 Unspecified DCK +OMIM:125450 skos:exactMatch HGNC:2704 Unspecified DCK +OMIM:125450 skos:exactMatch HGNC_symbol:DCK Unspecified DCK +OMIM:113480 skos:exactMatch UMLS:C2931421 Unspecified brachytelephalangy with characteristic facies and kallmann syndrome +OMIM:125440 skos:exactMatch UMLS:C1852201 Unspecified dentin dysplasia with sclerotic bones +OMIM:113470 skos:exactMatch UMLS:C1862084 Unspecified brachymesomelia-renal syndrome +OMIM:162500 skos:exactMatch UMLS:C0393814 Unspecified neuropathy, hereditary, with liability to pressure palsies +OMIM:125550 skos:exactMatch UMLS:C1852159 Unspecified dermal ridges-off-the-end +OMIM:137550 skos:exactMatch UMLS:C0346099 Unspecified melanocytic nevus syndrome, congenital +OMIM:137550 skos:exactMatch UMLS:C1842036 Unspecified melanocytic nevus syndrome, congenital +OMIM:137550 skos:exactMatch UMLS:C0206739 Unspecified melanocytic nevus syndrome, congenital +OMIM:125540 skos:exactMatch UMLS:C1852160 Unspecified dermal ridges, patternless +OMIM:551500 skos:exactMatch UMLS:C1328349 Unspecified neuropathy, ataxia, and retinitis pigmentosa +OMIM:174500 skos:exactMatch UMLS:C0241397 Unspecified polydactyly, preaxial 2 +OMIM:174500 skos:exactMatch UMLS:C1868114 Unspecified polydactyly, preaxial 2 +OMIM:125530 skos:exactMatch UMLS:C1852161 Unspecified dermal ridges, nelson syndrome +OMIM:137570 skos:exactMatch HGNC_symbol:SLC20A1 Unspecified SLC20A1 +OMIM:137570 skos:exactMatch HGNC:10946 Unspecified SLC20A1 +OMIM:137570 skos:exactMatch UMLS:C1456395 Unspecified SLC20A1 +OMIM:137575 skos:exactMatch UMLS:C3495361 Unspecified gigantiform cementoma, familial +OMIM:125520 skos:exactMatch UMLS:C0431406 Unspecified cayler cardiofacial syndrome +OMIM:137580 skos:exactMatch UMLS:C1392622 Unspecified gilles lange 50a tourette syndrome +OMIM:137580 skos:exactMatch UMLS:C0040517 Unspecified gilles lange 50a tourette syndrome +OMIM:113530 skos:exactMatch HGNC_symbol:BCAT2 Unspecified BCAT2 +OMIM:113530 skos:exactMatch HGNC:977 Unspecified BCAT2 +OMIM:113530 skos:exactMatch UMLS:C5394277 Unspecified BCAT2 +OMIM:113530 skos:exactMatch UMLS:C1412752 Unspecified BCAT2 +OMIM:150550 skos:exactMatch UMLS:C0272174 Unspecified periodic fever, immunodeficiency, and thrombocytopenia syndrome +OMIM:113520 skos:exactMatch UMLS:C1412751 Unspecified BCAT1 +OMIM:113520 skos:exactMatch HGNC_symbol:BCAT1 Unspecified BCAT1 +OMIM:113520 skos:exactMatch HGNC:976 Unspecified BCAT1 +OMIM:125500 skos:exactMatch UMLS:C0399378 Unspecified dentinogenesis imperfecta, shields iia 3 +OMIM:125505 skos:exactMatch HGNC_symbol:DNASE1 Unspecified DNASE1 +OMIM:125505 skos:exactMatch UMLS:C1414107 Unspecified DNASE1 +OMIM:125505 skos:exactMatch HGNC:2956 Unspecified DNASE1 +OMIM:113510 skos:exactMatch UMLS:C1862073 Unspecified None +OMIM:150571 skos:exactMatch UMLS:C1416830 Unspecified LGALS2 +OMIM:150571 skos:exactMatch HGNC:6562 Unspecified LGALS2 +OMIM:150571 skos:exactMatch HGNC_symbol:LGALS2 Unspecified LGALS2 +OMIM:150570 skos:exactMatch UMLS:C1416829 Unspecified LGALS1 +OMIM:150570 skos:exactMatch HGNC:6561 Unspecified LGALS1 +OMIM:150570 skos:exactMatch HGNC_symbol:LGALS1 Unspecified LGALS1 +OMIM:113500 skos:exactMatch ORPHA:93304 Unspecified brachyolmia iia 3 +OMIM:113500 skos:exactMatch UMLS:C0432227 Unspecified brachyolmia iia 3 +OMIM:186500 skos:exactMatch UMLS:C0342282 Unspecified multiple synostoses syndrome 1 +OMIM:113508 skos:exactMatch HGNC:12853 Unspecified YWHAH +OMIM:113508 skos:exactMatch HGNC_symbol:YWHAH Unspecified YWHAH +OMIM:113508 skos:exactMatch UMLS:C1421562 Unspecified YWHAH +OMIM:113505 skos:exactMatch HGNC_symbol:BDNF Unspecified BDNF +OMIM:113505 skos:exactMatch UMLS:C4694116 Unspecified BDNF +OMIM:113505 skos:exactMatch UMLS:C1332408 Unspecified BDNF +OMIM:113505 skos:exactMatch UMLS:C4015968 Unspecified BDNF +OMIM:113505 skos:exactMatch HGNC:1033 Unspecified BDNF +OMIM:113503 skos:exactMatch UMLS:C1332407 Unspecified BDKRB2 +OMIM:113503 skos:exactMatch HGNC_symbol:BDKRB2 Unspecified BDKRB2 +OMIM:113503 skos:exactMatch HGNC:1030 Unspecified BDKRB2 +OMIM:610419 skos:exactMatch UMLS:C1835854 Unspecified deafness, autosomal recessive 68 +OMIM:609429 skos:exactMatch HGNC:21399 Unspecified FOXN4 +OMIM:609429 skos:exactMatch UMLS:C1427544 Unspecified FOXN4 +OMIM:609429 skos:exactMatch HGNC_symbol:FOXN4 Unspecified FOXN4 +OMIM:609428 skos:exactMatch UMLS:C1836217 Unspecified tukel syndrome +OMIM:610416 skos:exactMatch HGNC_symbol:SCAND1 Unspecified SCAND1 +OMIM:610416 skos:exactMatch UMLS:C1419842 Unspecified SCAND1 +OMIM:610416 skos:exactMatch HGNC:10566 Unspecified SCAND1 +OMIM:610415 skos:exactMatch HGNC_symbol:STXBP4 Unspecified STXBP4 +OMIM:610415 skos:exactMatch HGNC:19694 Unspecified STXBP4 +OMIM:610415 skos:exactMatch UMLS:C1426340 Unspecified STXBP4 +OMIM:610418 skos:exactMatch HGNC:20482 Unspecified WDFY2 +OMIM:610418 skos:exactMatch UMLS:C1426966 Unspecified WDFY2 +OMIM:610418 skos:exactMatch HGNC_symbol:WDFY2 Unspecified WDFY2 +OMIM:610417 skos:exactMatch HGNC_symbol:SCAND2P Unspecified SCAND2 +OMIM:610417 skos:exactMatch UMLS:C1419843 Unspecified SCAND2 +OMIM:610417 skos:exactMatch HGNC:10567 Unspecified SCAND2 +OMIM:610412 skos:exactMatch HGNC:24045 Unspecified SPTSSB +OMIM:610412 skos:exactMatch UMLS:C1824153 Unspecified SPTSSB +OMIM:610412 skos:exactMatch HGNC_symbol:SPTSSB Unspecified SPTSSB +OMIM:610411 skos:exactMatch UMLS:C1424594 Unspecified IPO13 +OMIM:610411 skos:exactMatch HGNC_symbol:IPO13 Unspecified IPO13 +OMIM:610411 skos:exactMatch HGNC:16853 Unspecified IPO13 +OMIM:610414 skos:exactMatch HGNC:28791 Unspecified NBPF15 +OMIM:610414 skos:exactMatch UMLS:C1826373 Unspecified NBPF15 +OMIM:610414 skos:exactMatch HGNC_symbol:NBPF15 Unspecified NBPF15 +OMIM:610413 skos:exactMatch UMLS:C1537401 Unspecified IGFBPL1 +OMIM:610413 skos:exactMatch HGNC_symbol:IGFBPL1 Unspecified IGFBPL1 +OMIM:610413 skos:exactMatch HGNC:20081 Unspecified IGFBPL1 +OMIM:186550 skos:exactMatch UMLS:C1861313 Unspecified liebenberg syndrome +OMIM:610410 skos:exactMatch UMLS:C1424285 Unspecified DHRS1 +OMIM:610410 skos:exactMatch HGNC_symbol:DHRS1 Unspecified DHRS1 +OMIM:610410 skos:exactMatch HGNC:16445 Unspecified DHRS1 +OMIM:609430 skos:exactMatch HGNC:19311 Unspecified NPAS3 +OMIM:609430 skos:exactMatch UMLS:C1426157 Unspecified NPAS3 +OMIM:609430 skos:exactMatch HGNC_symbol:NPAS3 Unspecified NPAS3 +OMIM:609434 skos:exactMatch HGNC_symbol:LUC7L3 Unspecified LUC7L3 +OMIM:609434 skos:exactMatch HGNC:24309 Unspecified LUC7L3 +OMIM:609434 skos:exactMatch UMLS:C1836205 Unspecified LUC7L3 +OMIM:609433 skos:exactMatch UMLS:C1823597 Unspecified UIMC1 +OMIM:609433 skos:exactMatch HGNC_symbol:UIMC1 Unspecified UIMC1 +OMIM:609433 skos:exactMatch HGNC:30298 Unspecified UIMC1 +OMIM:609432 skos:exactMatch UMLS:C1836206 Unspecified syndactyly, mesoaxial synostotic, with phalangeal reduction +OMIM:150590 skos:exactMatch UMLS:C1835489 Unspecified leg ulcers, familial, of juvenile onset +OMIM:609431 skos:exactMatch UMLS:C1426932 Unspecified MBIP +OMIM:609431 skos:exactMatch HGNC_symbol:MBIP Unspecified MBIP +OMIM:609431 skos:exactMatch HGNC:20427 Unspecified MBIP +OMIM:609438 skos:exactMatch UMLS:C1836202 Unspecified mental retardation, keratoconus, febrile seizures, and sinoatrial block +OMIM:609437 skos:exactMatch HGNC:21373 Unspecified STK40 +OMIM:609437 skos:exactMatch UMLS:C1823134 Unspecified STK40 +OMIM:609437 skos:exactMatch HGNC_symbol:STK40 Unspecified STK40 +OMIM:609436 skos:exactMatch UMLS:C1333538 Unspecified FGF21 +OMIM:609436 skos:exactMatch HGNC_symbol:FGF21 Unspecified FGF21 +OMIM:609436 skos:exactMatch HGNC:3678 Unspecified FGF21 +OMIM:609435 skos:exactMatch HGNC_symbol:NDUFA13 Unspecified NDUFA13 +OMIM:609435 skos:exactMatch UMLS:C1826393 Unspecified NDUFA13 +OMIM:609435 skos:exactMatch HGNC:17194 Unspecified NDUFA13 +OMIM:610409 skos:exactMatch HGNC:16270 Unspecified SLC16A8 +OMIM:610409 skos:exactMatch UMLS:C1424140 Unspecified SLC16A8 +OMIM:610409 skos:exactMatch HGNC_symbol:SLC16A8 Unspecified SLC16A8 +OMIM:609419 skos:exactMatch UMLS:C1537716 Unspecified MIR19B1 +OMIM:609419 skos:exactMatch HGNC_symbol:MIR19B1 Unspecified MIR19B1 +OMIM:609419 skos:exactMatch HGNC:31575 Unspecified MIR19B1 +OMIM:610408 skos:exactMatch UMLS:C1425279 Unspecified SLC15A3 +OMIM:610408 skos:exactMatch HGNC:18068 Unspecified SLC15A3 +OMIM:610408 skos:exactMatch HGNC_symbol:SLC15A3 Unspecified SLC15A3 +OMIM:609418 skos:exactMatch HGNC_symbol:MIR19A Unspecified MIR19A +OMIM:609418 skos:exactMatch UMLS:C1537715 Unspecified MIR19A +OMIM:609418 skos:exactMatch HGNC:31574 Unspecified MIR19A +OMIM:609417 skos:exactMatch HGNC_symbol:MIR18A Unspecified MIR18A +OMIM:609417 skos:exactMatch UMLS:C1825996 Unspecified MIR18A +OMIM:609417 skos:exactMatch HGNC:31548 Unspecified MIR18A +OMIM:610405 skos:exactMatch HGNC_symbol:CHPF Unspecified CHPF +OMIM:610405 skos:exactMatch UMLS:C1835855 Unspecified CHPF +OMIM:610405 skos:exactMatch HGNC:24291 Unspecified CHPF +OMIM:610404 skos:exactMatch UMLS:C1835856 Unspecified RMI1 +OMIM:610404 skos:exactMatch HGNC:25764 Unspecified RMI1 +OMIM:610404 skos:exactMatch HGNC_symbol:RMI1 Unspecified RMI1 +OMIM:610407 skos:exactMatch HGNC:12273 Unspecified TRG-GCC2-6 +OMIM:610407 skos:exactMatch HGNC_symbol:TRG-GCC2-6 Unspecified TRG-GCC2-6 +OMIM:610407 skos:exactMatch UMLS:C1421118 Unspecified TRG-GCC2-6 +OMIM:610406 skos:exactMatch HGNC:12343 Unspecified TRR-TCT2-1 +OMIM:610406 skos:exactMatch HGNC_symbol:TRR-TCT2-1 Unspecified TRR-TCT2-1 +OMIM:610406 skos:exactMatch UMLS:C1421178 Unspecified TRR-TCT2-1 +OMIM:610401 skos:exactMatch HGNC_symbol:NTN4 Unspecified NTN4 +OMIM:610401 skos:exactMatch HGNC:13658 Unspecified NTN4 +OMIM:610401 skos:exactMatch UMLS:C1422132 Unspecified NTN4 +OMIM:610400 skos:exactMatch UMLS:C1835858 Unspecified MACROD1 +OMIM:610400 skos:exactMatch HGNC_symbol:MACROD1 Unspecified MACROD1 +OMIM:610400 skos:exactMatch HGNC:29598 Unspecified MACROD1 +OMIM:610403 skos:exactMatch HGNC:30689 Unspecified CAND2 +OMIM:610403 skos:exactMatch HGNC_symbol:CAND2 Unspecified CAND2 +OMIM:610403 skos:exactMatch UMLS:C1824526 Unspecified CAND2 +OMIM:609423 skos:exactMatch UMLS:C1836232 Unspecified human immunodeficiency virus iia 1, susceptibility to +OMIM:609423 skos:exactMatch UMLS:C1836231 Unspecified human immunodeficiency virus iia 1, susceptibility to +OMIM:609423 skos:exactMatch UMLS:C1836230 Unspecified human immunodeficiency virus iia 1, susceptibility to +OMIM:609423 skos:exactMatch UMLS:C1836233 Unspecified human immunodeficiency virus iia 1, susceptibility to +OMIM:609422 skos:exactMatch HGNC:31643 Unspecified MIR92A1 +OMIM:609422 skos:exactMatch HGNC_symbol:MIR92A1 Unspecified MIR92A1 +OMIM:609422 skos:exactMatch UMLS:C1537748 Unspecified MIR92A1 +OMIM:609420 skos:exactMatch UMLS:C1825998 Unspecified MIR20A +OMIM:609420 skos:exactMatch HGNC:31577 Unspecified MIR20A +OMIM:609420 skos:exactMatch HGNC_symbol:MIR20A Unspecified MIR20A +OMIM:609427 skos:exactMatch HGNC:21253 Unspecified LHFPL5 +OMIM:609427 skos:exactMatch UMLS:C1427457 Unspecified LHFPL5 +OMIM:609427 skos:exactMatch HGNC_symbol:LHFPL5 Unspecified LHFPL5 +OMIM:609426 skos:exactMatch HGNC:17565 Unspecified MINK1 +OMIM:609426 skos:exactMatch HGNC_symbol:MINK1 Unspecified MINK1 +OMIM:609426 skos:exactMatch UMLS:C1537698 Unspecified MINK1 +OMIM:609425 skos:exactMatch UMLS:C2674949 Unspecified chromosome 3q29 deletion syndrome +OMIM:609424 skos:exactMatch HGNC:29434 Unspecified RC3H1 +OMIM:609424 skos:exactMatch HGNC_symbol:RC3H1 Unspecified RC3H1 +OMIM:609424 skos:exactMatch UMLS:C5436563 Unspecified RC3H1 +OMIM:609424 skos:exactMatch UMLS:C1826784 Unspecified RC3H1 +OMIM:609409 skos:exactMatch HGNC_symbol:HNRNPA0 Unspecified HNRNPA0 +OMIM:609409 skos:exactMatch UMLS:C1415633 Unspecified HNRNPA0 +OMIM:609409 skos:exactMatch HGNC:5030 Unspecified HNRNPA0 +OMIM:609408 skos:exactMatch UMLS:C1836254 Unspecified holoprosencephaly 8 +OMIM:609407 skos:exactMatch HGNC_symbol:HS3ST5 Unspecified HS3ST5 +OMIM:609407 skos:exactMatch HGNC:19419 Unspecified HS3ST5 +OMIM:609407 skos:exactMatch UMLS:C1426230 Unspecified HS3ST5 +OMIM:609406 skos:exactMatch UMLS:C1826712 Unspecified PRR5 +OMIM:609406 skos:exactMatch HGNC_symbol:PRR5 Unspecified PRR5 +OMIM:609406 skos:exactMatch HGNC:31682 Unspecified PRR5 +OMIM:270350 skos:exactMatch UMLS:C1849192 Unspecified anosmia for butyl mercaptan +OMIM:609412 skos:exactMatch HGNC:3439 Unspecified ERCC8 +OMIM:609412 skos:exactMatch UMLS:C1414440 Unspecified ERCC8 +OMIM:609412 skos:exactMatch HGNC_symbol:ERCC8 Unspecified ERCC8 +OMIM:609411 skos:exactMatch HGNC:18955 Unspecified SYNJ2BP +OMIM:609411 skos:exactMatch HGNC_symbol:SYNJ2BP Unspecified SYNJ2BP +OMIM:609411 skos:exactMatch UMLS:C1425923 Unspecified SYNJ2BP +OMIM:609410 skos:exactMatch UMLS:C1420553 Unspecified SYNJ2 +OMIM:609410 skos:exactMatch HGNC:11504 Unspecified SYNJ2 +OMIM:609410 skos:exactMatch HGNC_symbol:SYNJ2 Unspecified SYNJ2 +OMIM:609416 skos:exactMatch UMLS:C1537713 Unspecified MIR17 +OMIM:609416 skos:exactMatch HGNC_symbol:MIR17 Unspecified MIR17 +OMIM:609416 skos:exactMatch HGNC:31547 Unspecified MIR17 +OMIM:609415 skos:exactMatch HGNC:23564 Unspecified MIR17HG +OMIM:609415 skos:exactMatch HGNC_symbol:MIR17HG Unspecified MIR17HG +OMIM:609415 skos:exactMatch UMLS:C1539033 Unspecified MIR17HG +OMIM:609414 skos:exactMatch HGNC:23785 Unspecified PIKFYVE +OMIM:609414 skos:exactMatch UMLS:C1428258 Unspecified PIKFYVE +OMIM:609414 skos:exactMatch HGNC_symbol:PIKFYVE Unspecified PIKFYVE +OMIM:609413 skos:exactMatch HGNC:3438 Unspecified ERCC6 +OMIM:609413 skos:exactMatch UMLS:C4015968 Unspecified ERCC6 +OMIM:609413 skos:exactMatch UMLS:C2674950 Unspecified ERCC6 +OMIM:609413 skos:exactMatch UMLS:C1366757 Unspecified ERCC6 +OMIM:609413 skos:exactMatch HGNC_symbol:ERCC6 Unspecified ERCC6 +OMIM:609413 skos:exactMatch UMLS:C3551173 Unspecified ERCC6 +OMIM:609413 skos:exactMatch UMLS:C0220722 Unspecified ERCC6 +OMIM:609413 skos:exactMatch UMLS:C1426221 Unspecified ERCC6 +OMIM:609413 skos:exactMatch UMLS:C4017197 Unspecified ERCC6 +OMIM:609413 skos:exactMatch UMLS:C4310783 Unspecified ERCC6 +OMIM:609413 skos:exactMatch UMLS:C0265201 Unspecified ERCC6 +OMIM:609413 skos:exactMatch UMLS:C0751038 Unspecified ERCC6 +OMIM:609401 skos:exactMatch UMLS:C1426036 Unspecified HS6ST3 +OMIM:609401 skos:exactMatch HGNC_symbol:HS6ST3 Unspecified HS6ST3 +OMIM:609401 skos:exactMatch HGNC:19134 Unspecified HS6ST3 +OMIM:609400 skos:exactMatch UMLS:C1836258 Unspecified autoimmune disease, susceptibility to, 4 +OMIM:609405 skos:exactMatch HGNC:677 Unspecified ARHGAP8 +OMIM:609405 skos:exactMatch HGNC_symbol:ARHGAP8 Unspecified ARHGAP8 +OMIM:609405 skos:exactMatch UMLS:C1412524 Unspecified ARHGAP8 +OMIM:609404 skos:exactMatch UMLS:C1836255 Unspecified preeclampsia/eclampsia 4 +OMIM:609403 skos:exactMatch UMLS:C1836256 Unspecified preeclampsia/eclampsia 3 +OMIM:609402 skos:exactMatch UMLS:C1836257 Unspecified preeclampsia/eclampsia 2 +OMIM:610459 skos:exactMatch HGNC:24528 Unspecified PRR13 +OMIM:610459 skos:exactMatch UMLS:C1826717 Unspecified PRR13 +OMIM:610459 skos:exactMatch HGNC_symbol:PRR13 Unspecified PRR13 +OMIM:186591 skos:exactMatch HGNC_symbol:STX4 Unspecified STX4 +OMIM:186591 skos:exactMatch HGNC:11439 Unspecified STX4 +OMIM:186591 skos:exactMatch UMLS:C1823142 Unspecified STX4 +OMIM:610456 skos:exactMatch HGNC_symbol:SAMD9 Unspecified SAMD9 +OMIM:610456 skos:exactMatch UMLS:C5436668 Unspecified SAMD9 +OMIM:610456 skos:exactMatch HGNC:1348 Unspecified SAMD9 +OMIM:610456 skos:exactMatch UMLS:C1864861 Unspecified SAMD9 +OMIM:610456 skos:exactMatch UMLS:C1539722 Unspecified SAMD9 +OMIM:610456 skos:exactMatch UMLS:C4284088 Unspecified SAMD9 +OMIM:186590 skos:exactMatch HGNC:11433 Unspecified STX1A +OMIM:186590 skos:exactMatch HGNC_symbol:STX1A Unspecified STX1A +OMIM:186590 skos:exactMatch UMLS:C1420498 Unspecified STX1A +OMIM:610455 skos:exactMatch ORPHA:53715 Unspecified tumoral calcinosis, normophosphatemic, familial +OMIM:610455 skos:exactMatch UMLS:C1864861 Unspecified tumoral calcinosis, normophosphatemic, familial +OMIM:610455 skos:exactMatch ORPHA:306658 Unspecified tumoral calcinosis, normophosphatemic, familial +OMIM:610458 skos:exactMatch UMLS:C1424983 Unspecified LZIC +OMIM:610458 skos:exactMatch HGNC_symbol:LZIC Unspecified LZIC +OMIM:610458 skos:exactMatch HGNC:17497 Unspecified LZIC +OMIM:610457 skos:exactMatch UMLS:C1822791 Unspecified SMPD4 +OMIM:610457 skos:exactMatch HGNC:32949 Unspecified SMPD4 +OMIM:610457 skos:exactMatch HGNC_symbol:SMPD4 Unspecified SMPD4 +OMIM:610452 skos:exactMatch UMLS:C1864867 Unspecified mutagen sensitivity +OMIM:610451 skos:exactMatch UMLS:C1823249 Unspecified LRRC35 +OMIM:610451 skos:exactMatch HGNC:28115 Unspecified LRRC35 +OMIM:610451 skos:exactMatch HGNC_symbol:TBCEL Unspecified LRRC35 +OMIM:610454 skos:exactMatch HGNC_symbol:LZTS2 Unspecified LZTS2 +OMIM:610454 skos:exactMatch HGNC:29381 Unspecified LZTS2 +OMIM:610454 skos:exactMatch UMLS:C1428848 Unspecified LZTS2 +OMIM:610453 skos:exactMatch UMLS:C1825466 Unspecified HGSNAT +OMIM:610453 skos:exactMatch HGNC_symbol:HGSNAT Unspecified HGSNAT +OMIM:610453 skos:exactMatch HGNC:26527 Unspecified HGSNAT +OMIM:609470 skos:exactMatch UMLS:C1836118 Unspecified left ventricular noncompaction 2 +OMIM:610461 skos:exactMatch HGNC:21329 Unspecified RTN4RL1 +OMIM:610461 skos:exactMatch UMLS:C1427489 Unspecified RTN4RL1 +OMIM:610461 skos:exactMatch HGNC_symbol:RTN4RL1 Unspecified RTN4RL1 +OMIM:610460 skos:exactMatch UMLS:C0342801 Unspecified thiopurines, poor metabolism of, 1 +OMIM:609474 skos:exactMatch HGNC:7954 Unspecified NPTXR +OMIM:609474 skos:exactMatch HGNC_symbol:NPTXR Unspecified NPTXR +OMIM:609474 skos:exactMatch UMLS:C1417814 Unspecified NPTXR +OMIM:609473 skos:exactMatch UMLS:C1424964 Unspecified CGN +OMIM:609473 skos:exactMatch HGNC:17429 Unspecified CGN +OMIM:609473 skos:exactMatch HGNC_symbol:CGN Unspecified CGN +OMIM:609472 skos:exactMatch HGNC:2152 Unspecified CNGA4 +OMIM:609472 skos:exactMatch HGNC_symbol:CNGA4 Unspecified CNGA4 +OMIM:609472 skos:exactMatch UMLS:C1413547 Unspecified CNGA4 +OMIM:609471 skos:exactMatch HGNC:18986 Unspecified GBA2 +OMIM:609471 skos:exactMatch UMLS:C1425933 Unspecified GBA2 +OMIM:609471 skos:exactMatch HGNC_symbol:GBA2 Unspecified GBA2 +OMIM:609478 skos:exactMatch UMLS:C1539875 Unspecified ST8SIA3 +OMIM:609478 skos:exactMatch HGNC_symbol:ST8SIA3 Unspecified ST8SIA3 +OMIM:609478 skos:exactMatch HGNC:14269 Unspecified ST8SIA3 +OMIM:304040 skos:exactMatch HGNC:4283 Unspecified GJB1 +OMIM:304040 skos:exactMatch HGNC_symbol:GJB1 Unspecified GJB1 +OMIM:304040 skos:exactMatch UMLS:C1415076 Unspecified GJB1 +OMIM:609477 skos:exactMatch HGNC:24810 Unspecified SMCO4 +OMIM:609477 skos:exactMatch HGNC_symbol:SMCO4 Unspecified SMCO4 +OMIM:609477 skos:exactMatch UMLS:C1824341 Unspecified SMCO4 +OMIM:609476 skos:exactMatch UMLS:C1428901 Unspecified NLK +OMIM:609476 skos:exactMatch HGNC:29858 Unspecified NLK +OMIM:609476 skos:exactMatch HGNC_symbol:NLK Unspecified NLK +OMIM:609475 skos:exactMatch HGNC_symbol:AKAP8L Unspecified AKAP8L +OMIM:609475 skos:exactMatch UMLS:C1428900 Unspecified AKAP8L +OMIM:609475 skos:exactMatch HGNC:29857 Unspecified AKAP8L +OMIM:609479 skos:exactMatch HGNC_symbol:MAP3K20 Unspecified ZAK +OMIM:609479 skos:exactMatch UMLS:C1868689 Unspecified ZAK +OMIM:609479 skos:exactMatch HGNC:17797 Unspecified ZAK +OMIM:610449 skos:exactMatch HGNC:17586 Unspecified MTCH1 +OMIM:610449 skos:exactMatch UMLS:C1425004 Unspecified MTCH1 +OMIM:610449 skos:exactMatch HGNC_symbol:MTCH1 Unspecified MTCH1 +OMIM:610448 skos:exactMatch UMLS:C0024145 Unspecified chilblain lupus 1 +OMIM:610445 skos:exactMatch UMLS:C1864869 Unspecified night blindness, congenital stationary, autosomal dominant 1 +OMIM:610444 skos:exactMatch UMLS:C1864870 Unspecified night blindness, congenital stationary, autosomal dominant 3 +OMIM:610447 skos:exactMatch HGNC_symbol:SPRN Unspecified SPRN +OMIM:610447 skos:exactMatch UMLS:C1823113 Unspecified SPRN +OMIM:610447 skos:exactMatch HGNC:16871 Unspecified SPRN +OMIM:610446 skos:exactMatch UMLS:C1864868 Unspecified buruli ulcer, susceptibility to +OMIM:610441 skos:exactMatch UMLS:C1864873 Unspecified testicular microlithiasis +OMIM:610440 skos:exactMatch UMLS:C1428456 Unspecified SGSM3 +OMIM:610440 skos:exactMatch HGNC_symbol:SGSM3 Unspecified SGSM3 +OMIM:610440 skos:exactMatch HGNC:25228 Unspecified SGSM3 +OMIM:610443 skos:exactMatch ORPHA:363958 Unspecified koolen-de vries syndrome +OMIM:610443 skos:exactMatch ORPHA:96169 Unspecified koolen-de vries syndrome +OMIM:610443 skos:exactMatch UMLS:C1864871 Unspecified koolen-de vries syndrome +OMIM:610442 skos:exactMatch UMLS:C1864872 Unspecified spondyloepimetaphyseal dysplasia, genevieve iia +OMIM:610450 skos:exactMatch UMLS:C1537628 Unspecified LYPD1 +OMIM:610450 skos:exactMatch HGNC_symbol:LYPD1 Unspecified LYPD1 +OMIM:610450 skos:exactMatch HGNC:28431 Unspecified LYPD1 +OMIM:609463 skos:exactMatch UMLS:C1537922 Unspecified MRTFB +OMIM:609463 skos:exactMatch HGNC_symbol:MRTFB Unspecified MRTFB +OMIM:609463 skos:exactMatch HGNC:29819 Unspecified MRTFB +OMIM:609462 skos:exactMatch HGNC:30809 Unspecified TRIB2 +OMIM:609462 skos:exactMatch UMLS:C1540054 Unspecified TRIB2 +OMIM:609462 skos:exactMatch HGNC_symbol:TRIB2 Unspecified TRIB2 +OMIM:609461 skos:exactMatch UMLS:C1540053 Unspecified TRIB1 +OMIM:609461 skos:exactMatch HGNC_symbol:TRIB1 Unspecified TRIB1 +OMIM:609461 skos:exactMatch HGNC:16891 Unspecified TRIB1 +OMIM:609460 skos:exactMatch UMLS:C1836123 Unspecified goldberg-shprintzen syndrome +OMIM:609467 skos:exactMatch UMLS:C1419877 Unspecified chemokine, cc motif, ligand 3, pseudogene 1 +OMIM:609467 skos:exactMatch HGNC:10629 Unspecified chemokine, cc motif, ligand 3, pseudogene 1 +OMIM:609467 skos:exactMatch HGNC_symbol:CCL3P1 Unspecified chemokine, cc motif, ligand 3, pseudogene 1 +OMIM:272980 skos:exactMatch UMLS:C1848909 Unspecified teeth, congenital absence of, with taurodontia and sparse hair +OMIM:609466 skos:exactMatch UMLS:C1836120 Unspecified cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss +OMIM:304050 skos:exactMatch UMLS:C0175713 Unspecified aicardi syndrome +OMIM:609465 skos:exactMatch ORPHA:2725 Unspecified al-gazali syndrome +OMIM:609465 skos:exactMatch UMLS:C1836121 Unspecified al-gazali syndrome +OMIM:609469 skos:exactMatch UMLS:C1836119 Unspecified nephropathy, progressive, with deafness +OMIM:609468 skos:exactMatch HGNC:30554 Unspecified CCL3L3 +OMIM:609468 skos:exactMatch HGNC_symbol:CCL3L3 Unspecified CCL3L3 +OMIM:609468 skos:exactMatch UMLS:C1824661 Unspecified CCL3L3 +OMIM:186575 skos:exactMatch UMLS:C1861304 Unspecified synovial chondromatosis, familial, with dwarfism +OMIM:610438 skos:exactMatch UMLS:C1864875 Unspecified restless legs syndrome, susceptibility to, 3 +OMIM:610437 skos:exactMatch HGNC:13934 Unspecified LY6G6E +OMIM:610437 skos:exactMatch UMLS:C1422282 Unspecified LY6G6E +OMIM:610437 skos:exactMatch HGNC_symbol:LY6G6E Unspecified LY6G6E +OMIM:610439 skos:exactMatch UMLS:C1864874 Unspecified restless legs syndrome, susceptibility to, 4 +OMIM:610434 skos:exactMatch UMLS:C1422280 Unspecified LY6G5C +OMIM:610434 skos:exactMatch HGNC:13932 Unspecified LY6G5C +OMIM:610434 skos:exactMatch HGNC_symbol:LY6G5C Unspecified LY6G5C +OMIM:610433 skos:exactMatch HGNC:13931 Unspecified LY6G5B +OMIM:610433 skos:exactMatch UMLS:C1422279 Unspecified LY6G5B +OMIM:610433 skos:exactMatch HGNC_symbol:LY6G5B Unspecified LY6G5B +OMIM:610436 skos:exactMatch HGNC_symbol:RTTN Unspecified RTTN +OMIM:610436 skos:exactMatch HGNC:18654 Unspecified RTTN +OMIM:610436 skos:exactMatch UMLS:C1425681 Unspecified RTTN +OMIM:610435 skos:exactMatch HGNC:13936 Unspecified LY6G6C +OMIM:610435 skos:exactMatch UMLS:C1422284 Unspecified LY6G6C +OMIM:610435 skos:exactMatch HGNC_symbol:LY6G6C Unspecified LY6G6C +OMIM:610430 skos:exactMatch UMLS:C1864876 Unspecified macroglobulinemia, waldenstrom, susceptibility to, 2 +OMIM:610432 skos:exactMatch HGNC_symbol:RNF125 Unspecified RNF125 +OMIM:610432 skos:exactMatch HGNC:21150 Unspecified RNF125 +OMIM:610432 skos:exactMatch UMLS:C1427365 Unspecified RNF125 +OMIM:610431 skos:exactMatch HGNC:24544 Unspecified RNF167 +OMIM:610431 skos:exactMatch HGNC_symbol:RNF167 Unspecified RNF167 +OMIM:610431 skos:exactMatch UMLS:C1538865 Unspecified RNF167 +OMIM:186570 skos:exactMatch UMLS:C1861305 Unspecified tarsal-carpal coalition syndrome +OMIM:186570 skos:exactMatch UMLS:C1861306 Unspecified tarsal-carpal coalition syndrome +OMIM:609452 skos:exactMatch ORPHA:98912 Unspecified myopathy, myofibrillar, 4 +OMIM:609452 skos:exactMatch UMLS:C4721886 Unspecified myopathy, myofibrillar, 4 +OMIM:609451 skos:exactMatch HGNC:23329 Unspecified ZFP90 +OMIM:609451 skos:exactMatch UMLS:C1428038 Unspecified ZFP90 +OMIM:609451 skos:exactMatch HGNC_symbol:ZFP90 Unspecified ZFP90 +OMIM:609450 skos:exactMatch HGNC_symbol:MXD3 Unspecified MXD3 +OMIM:609450 skos:exactMatch UMLS:C1422344 Unspecified MXD3 +OMIM:609450 skos:exactMatch HGNC:14008 Unspecified MXD3 +OMIM:609456 skos:exactMatch UMLS:C1836133 Unspecified muscular dystrophy, congenital, merosin-positive +OMIM:609455 skos:exactMatch HGNC:30134 Unspecified PELP1 +OMIM:609455 skos:exactMatch HGNC_symbol:PELP1 Unspecified PELP1 +OMIM:609455 skos:exactMatch UMLS:C1826567 Unspecified PELP1 +OMIM:609454 skos:exactMatch UMLS:C1836148 Unspecified supranuclear palsy, progressive, 2 +OMIM:609453 skos:exactMatch HGNC_symbol:GOLGA7 Unspecified GOLGA7 +OMIM:609453 skos:exactMatch HGNC:24876 Unspecified GOLGA7 +OMIM:609453 skos:exactMatch UMLS:C1428422 Unspecified GOLGA7 +OMIM:609459 skos:exactMatch UMLS:C1425592 Unspecified DGCR6L +OMIM:609459 skos:exactMatch HGNC_symbol:DGCR6L Unspecified DGCR6L +OMIM:609459 skos:exactMatch HGNC:18551 Unspecified DGCR6L +OMIM:609458 skos:exactMatch HGNC:6826 Unspecified MAN2B1 +OMIM:609458 skos:exactMatch HGNC_symbol:MAN2B1 Unspecified MAN2B1 +OMIM:609458 skos:exactMatch UMLS:C1416997 Unspecified MAN2B1 +OMIM:304020 skos:exactMatch UMLS:C1844777 Unspecified cone-rod dystrophy, x-linked, 1 +OMIM:304020 skos:exactMatch UMLS:C1844776 Unspecified cone-rod dystrophy, x-linked, 1 +OMIM:609457 skos:exactMatch UMLS:C0220992 Unspecified HAL +OMIM:609457 skos:exactMatch HGNC_symbol:HAL Unspecified HAL +OMIM:609457 skos:exactMatch HGNC:4806 Unspecified HAL +OMIM:609457 skos:exactMatch UMLS:C1415465 Unspecified HAL +OMIM:270300 skos:exactMatch UMLS:C1849193 Unspecified peeling skin syndrome 1 +OMIM:609439 skos:exactMatch UMLS:C1836199 Unspecified deafness, autosomal recessive 48 +OMIM:610427 skos:exactMatch ORPHA:215 Unspecified cone-rod synaptic disorder, congenital nonprogressive +OMIM:610427 skos:exactMatch UMLS:C4041558 Unspecified cone-rod synaptic disorder, congenital nonprogressive +OMIM:610429 skos:exactMatch HGNC_symbol:COX19 Unspecified COX19 +OMIM:610429 skos:exactMatch HGNC:28074 Unspecified COX19 +OMIM:610429 skos:exactMatch UMLS:C1824783 Unspecified COX19 +OMIM:610428 skos:exactMatch HGNC:26801 Unspecified COX18 +OMIM:610428 skos:exactMatch HGNC_symbol:COX18 Unspecified COX18 +OMIM:610428 skos:exactMatch UMLS:C1824782 Unspecified COX18 +OMIM:186580 skos:exactMatch UMLS:C1861303 Unspecified blau syndrome +OMIM:610423 skos:exactMatch HGNC_symbol:PACS2 Unspecified PACS2 +OMIM:610423 skos:exactMatch UMLS:C1538564 Unspecified PACS2 +OMIM:610423 skos:exactMatch HGNC:23794 Unspecified PACS2 +OMIM:610423 skos:exactMatch UMLS:C4748070 Unspecified PACS2 +OMIM:257350 skos:exactMatch UMLS:C0948242 Unspecified nuchal bleb, familial +OMIM:610422 skos:exactMatch UMLS:C1835852 Unspecified alopecia-intellectual disability syndrome 2 +OMIM:610425 skos:exactMatch UMLS:C3808012 Unspecified cataract 23, multiple types +OMIM:610424 skos:exactMatch UMLS:C3552304 Unspecified hepatitis B virus, susceptibility to +OMIM:610424 skos:exactMatch UMLS:C3552303 Unspecified hepatitis B virus, susceptibility to +OMIM:610424 skos:exactMatch UMLS:C1864880 Unspecified hepatitis B virus, susceptibility to +OMIM:610421 skos:exactMatch HGNC:18117 Unspecified KHDRBS3 +OMIM:610421 skos:exactMatch UMLS:C1425323 Unspecified KHDRBS3 +OMIM:610421 skos:exactMatch HGNC_symbol:KHDRBS3 Unspecified KHDRBS3 +OMIM:610420 skos:exactMatch UMLS:C1968893 Unspecified preauricular tag, isolated, autosomal dominant, 1 +OMIM:402500 skos:exactMatch HGNC:750 Unspecified ASMT +OMIM:402500 skos:exactMatch UMLS:C1412585 Unspecified ASMT +OMIM:402500 skos:exactMatch HGNC_symbol:ASMT Unspecified ASMT +OMIM:609441 skos:exactMatch UMLS:C4225404 Unspecified acromesomelic dysplasia 3 +OMIM:609440 skos:exactMatch HGNC:24329 Unspecified UTP11L +OMIM:609440 skos:exactMatch HGNC_symbol:UTP11 Unspecified UTP11L +OMIM:609440 skos:exactMatch UMLS:C1823609 Unspecified UTP11L +OMIM:609445 skos:exactMatch HGNC_symbol:RXFP3 Unspecified RXFP3 +OMIM:609445 skos:exactMatch HGNC:24883 Unspecified RXFP3 +OMIM:609445 skos:exactMatch UMLS:C1812639 Unspecified RXFP3 +OMIM:304030 skos:exactMatch UMLS:C1844775 Unspecified cone dystrophy, x-linked, with tapetal-like sheen +OMIM:609444 skos:exactMatch HGNC:29995 Unspecified CELA2B +OMIM:609444 skos:exactMatch HGNC_symbol:CELA2B Unspecified CELA2B +OMIM:609444 skos:exactMatch UMLS:C1836180 Unspecified CELA2B +OMIM:609443 skos:exactMatch HGNC:24609 Unspecified CELA2A +OMIM:609443 skos:exactMatch HGNC_symbol:CELA2A Unspecified CELA2A +OMIM:609443 skos:exactMatch UMLS:C1836181 Unspecified CELA2A +OMIM:609442 skos:exactMatch UMLS:C1876218 Unspecified valproate embryopathy, susceptibility to +OMIM:609442 skos:exactMatch UMLS:C0236026 Unspecified valproate embryopathy, susceptibility to +OMIM:609442 skos:exactMatch ORPHA:1906 Unspecified valproate embryopathy, susceptibility to +OMIM:609449 skos:exactMatch HGNC:17619 Unspecified NDE1 +OMIM:609449 skos:exactMatch UMLS:C1425014 Unspecified NDE1 +OMIM:609449 skos:exactMatch HGNC_symbol:NDE1 Unspecified NDE1 +OMIM:609448 skos:exactMatch HGNC:24626 Unspecified TXNDC12 +OMIM:609448 skos:exactMatch HGNC_symbol:TXNDC12 Unspecified TXNDC12 +OMIM:609448 skos:exactMatch UMLS:C1836171 Unspecified TXNDC12 +OMIM:609447 skos:exactMatch HGNC:30125 Unspecified MZB1 +OMIM:609447 skos:exactMatch HGNC_symbol:MZB1 Unspecified MZB1 +OMIM:609447 skos:exactMatch UMLS:C1836172 Unspecified MZB1 +OMIM:609446 skos:exactMatch UMLS:C1836173 Unspecified paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy +OMIM:269300 skos:exactMatch UMLS:C0265292 Unspecified craniometadiaphyseal dysplasia +OMIM:610379 skos:exactMatch UMLS:C1835867 Unspecified west nile virus, susceptibility to +OMIM:247990 skos:exactMatch UMLS:C0796024 Unspecified macdermot-winter syndrome +OMIM:610378 skos:exactMatch UMLS:C1539572 Unspecified GLIS1 +OMIM:610378 skos:exactMatch HGNC_symbol:GLIS1 Unspecified GLIS1 +OMIM:610378 skos:exactMatch HGNC:29525 Unspecified GLIS1 +OMIM:260970 skos:exactMatch UMLS:C1850022 Unspecified peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain +OMIM:610375 skos:exactMatch HGNC:21259 Unspecified CAPRIN2 +OMIM:610375 skos:exactMatch HGNC_symbol:CAPRIN2 Unspecified CAPRIN2 +OMIM:610375 skos:exactMatch UMLS:C1427462 Unspecified CAPRIN2 +OMIM:610374 skos:exactMatch UMLS:C1835887 Unspecified diabetes mellitus, transient neonatal, 2 +OMIM:610374 skos:exactMatch ORPHA:99886 Unspecified diabetes mellitus, transient neonatal, 2 +OMIM:610377 skos:exactMatch UMLS:C1959626 Unspecified mevalonic aciduria +OMIM:610377 skos:exactMatch ORPHA:29 Unspecified mevalonic aciduria +OMIM:610376 skos:exactMatch UMLS:C1835886 Unspecified ACKR3 +OMIM:610376 skos:exactMatch HGNC:23692 Unspecified ACKR3 +OMIM:610376 skos:exactMatch HGNC_symbol:ACKR3 Unspecified ACKR3 +OMIM:609393 skos:exactMatch UMLS:C2700595 Unspecified KLF14 +OMIM:609393 skos:exactMatch HGNC:23025 Unspecified KLF14 +OMIM:609393 skos:exactMatch HGNC_symbol:KLF14 Unspecified KLF14 +OMIM:610382 skos:exactMatch UMLS:C2931455 Unspecified prosopagnosia, hereditary +OMIM:609392 skos:exactMatch HGNC:16516 Unspecified KLF3 +OMIM:609392 skos:exactMatch HGNC_symbol:KLF3 Unspecified KLF3 +OMIM:609392 skos:exactMatch UMLS:C1424346 Unspecified KLF3 +OMIM:610381 skos:exactMatch UMLS:C1835865 Unspecified cone-rod dystrophy 11 +OMIM:609391 skos:exactMatch HGNC:14529 Unspecified SP5 +OMIM:609391 skos:exactMatch HGNC_symbol:SP5 Unspecified SP5 +OMIM:609391 skos:exactMatch UMLS:C1539807 Unspecified SP5 +OMIM:610384 skos:exactMatch UMLS:C1539659 Unspecified HECW1 +OMIM:610384 skos:exactMatch HGNC_symbol:HECW1 Unspecified HECW1 +OMIM:610384 skos:exactMatch HGNC:22195 Unspecified HECW1 +OMIM:609390 skos:exactMatch HGNC:16873 Unspecified FIG4 +OMIM:609390 skos:exactMatch UMLS:C1424608 Unspecified FIG4 +OMIM:609390 skos:exactMatch HGNC_symbol:FIG4 Unspecified FIG4 +OMIM:610383 skos:exactMatch UMLS:C1423694 Unspecified RASSF9 +OMIM:610383 skos:exactMatch HGNC_symbol:RASSF9 Unspecified RASSF9 +OMIM:610383 skos:exactMatch HGNC:15739 Unspecified RASSF9 +OMIM:609397 skos:exactMatch HGNC_symbol:STOX1 Unspecified STOX1 +OMIM:609397 skos:exactMatch UMLS:C1539885 Unspecified STOX1 +OMIM:609397 skos:exactMatch HGNC:23508 Unspecified STOX1 +OMIM:609396 skos:exactMatch HGNC:20610 Unspecified PHLPP1 +OMIM:609396 skos:exactMatch HGNC_symbol:PHLPP1 Unspecified PHLPP1 +OMIM:609396 skos:exactMatch UMLS:C1538638 Unspecified PHLPP1 +OMIM:609395 skos:exactMatch HGNC:24031 Unspecified SPC25 +OMIM:609395 skos:exactMatch HGNC_symbol:SPC25 Unspecified SPC25 +OMIM:609395 skos:exactMatch UMLS:C1539815 Unspecified SPC25 +OMIM:609394 skos:exactMatch HGNC:26913 Unspecified SPC24 +OMIM:609394 skos:exactMatch HGNC_symbol:SPC24 Unspecified SPC24 +OMIM:609394 skos:exactMatch UMLS:C1539814 Unspecified SPC24 +OMIM:609399 skos:exactMatch HGNC:15570 Unspecified SPESP1 +OMIM:609399 skos:exactMatch UMLS:C1423582 Unspecified SPESP1 +OMIM:609399 skos:exactMatch HGNC_symbol:SPESP1 Unspecified SPESP1 +OMIM:609398 skos:exactMatch HGNC:13527 Unspecified ATP6V1D +OMIM:609398 skos:exactMatch UMLS:C1422038 Unspecified ATP6V1D +OMIM:609398 skos:exactMatch HGNC_symbol:ATP6V1D Unspecified ATP6V1D +OMIM:272950 skos:exactMatch UMLS:C1848912 Unspecified teebi-shaltout syndrome +OMIM:272950 skos:exactMatch ORPHA:3291 Unspecified teebi-shaltout syndrome +OMIM:245340 skos:exactMatch UMLS:C1855577 Unspecified erythrocyte lactate transporter defect +OMIM:306700 skos:exactMatch ORPHA:169805 Unspecified hemophilia a +OMIM:306700 skos:exactMatch ORPHA:169808 Unspecified hemophilia a +OMIM:306700 skos:exactMatch ORPHA:169802 Unspecified hemophilia a +OMIM:306700 skos:exactMatch ORPHA:177926 Unspecified hemophilia a +OMIM:306700 skos:exactMatch UMLS:C0019069 Unspecified hemophilia a +OMIM:306700 skos:exactMatch ORPHA:98878 Unspecified hemophilia a +OMIM:610368 skos:exactMatch HGNC:20309 Unspecified LRCH1 +OMIM:610368 skos:exactMatch HGNC_symbol:LRCH1 Unspecified LRCH1 +OMIM:610368 skos:exactMatch UMLS:C1537586 Unspecified LRCH1 +OMIM:610367 skos:exactMatch HGNC:14239 Unspecified SLC2A11 +OMIM:610367 skos:exactMatch UMLS:C1422501 Unspecified SLC2A11 +OMIM:610367 skos:exactMatch HGNC_symbol:SLC2A11 Unspecified SLC2A11 +OMIM:610369 skos:exactMatch HGNC:29526 Unspecified HSPA14 +OMIM:610369 skos:exactMatch HGNC_symbol:HSPA14 Unspecified HSPA14 +OMIM:610369 skos:exactMatch UMLS:C1537387 Unspecified HSPA14 +OMIM:221350 skos:exactMatch UMLS:C1857339 Unspecified deafness, congenital, with vitiligo and achalasia +OMIM:610364 skos:exactMatch HGNC_symbol:TMBIM1 Unspecified TMBIM1 +OMIM:610364 skos:exactMatch HGNC:23410 Unspecified TMBIM1 +OMIM:610364 skos:exactMatch UMLS:C1823289 Unspecified TMBIM1 +OMIM:245349 skos:exactMatch UMLS:C1855553 Unspecified pyruvate dehydrogenase e3-binding protein deficiency +OMIM:610363 skos:exactMatch UMLS:C1426944 Unspecified PADI6 +OMIM:610363 skos:exactMatch HGNC_symbol:PADI6 Unspecified PADI6 +OMIM:610363 skos:exactMatch HGNC:20449 Unspecified PADI6 +OMIM:245348 skos:exactMatch UMLS:C1855565 Unspecified pyruvate dehydrogenase e2 deficiency +OMIM:610366 skos:exactMatch UMLS:C1412449 Unspecified AP3M1 +OMIM:610366 skos:exactMatch HGNC_symbol:AP3M1 Unspecified AP3M1 +OMIM:610366 skos:exactMatch HGNC:569 Unspecified AP3M1 +OMIM:610365 skos:exactMatch HGNC:14324 Unspecified C1QTNF1 +OMIM:610365 skos:exactMatch UMLS:C1422563 Unspecified C1QTNF1 +OMIM:610365 skos:exactMatch HGNC_symbol:C1QTNF1 Unspecified C1QTNF1 +OMIM:609382 skos:exactMatch HGNC_symbol:IER3IP1 Unspecified IER3IP1 +OMIM:609382 skos:exactMatch UMLS:C1537396 Unspecified IER3IP1 +OMIM:609382 skos:exactMatch HGNC:18550 Unspecified IER3IP1 +OMIM:610371 skos:exactMatch HGNC:13445 Unspecified SLC2A7 +OMIM:610371 skos:exactMatch HGNC_symbol:SLC2A7 Unspecified SLC2A7 +OMIM:610371 skos:exactMatch UMLS:C1421997 Unspecified SLC2A7 +OMIM:609381 skos:exactMatch UMLS:C1428995 Unspecified STXBP5L +OMIM:609381 skos:exactMatch HGNC:30757 Unspecified STXBP5L +OMIM:609381 skos:exactMatch HGNC_symbol:STXBP5L Unspecified STXBP5L +OMIM:610370 skos:exactMatch UMLS:C1835888 Unspecified diarrhea 4, malabsorptive, congenital +OMIM:609380 skos:exactMatch HGNC_symbol:LMLN Unspecified LMLN +OMIM:609380 skos:exactMatch HGNC:15991 Unspecified LMLN +OMIM:609380 skos:exactMatch UMLS:C1423892 Unspecified LMLN +OMIM:610373 skos:exactMatch HGNC_symbol:DDX50 Unspecified DDX50 +OMIM:610373 skos:exactMatch HGNC:17906 Unspecified DDX50 +OMIM:610373 skos:exactMatch UMLS:C1425165 Unspecified DDX50 +OMIM:610372 skos:exactMatch HGNC:18067 Unspecified SLC2A12 +OMIM:610372 skos:exactMatch HGNC_symbol:SLC2A12 Unspecified SLC2A12 +OMIM:610372 skos:exactMatch UMLS:C1425278 Unspecified SLC2A12 +OMIM:257320 skos:exactMatch UMLS:C0796089 Unspecified lissencephaly 2 +OMIM:609386 skos:exactMatch HGNC:20465 Unspecified SMC5 +OMIM:609386 skos:exactMatch UMLS:C1822781 Unspecified SMC5 +OMIM:609386 skos:exactMatch HGNC_symbol:SMC5 Unspecified SMC5 +OMIM:609385 skos:exactMatch UMLS:C1428267 Unspecified DND1 +OMIM:609385 skos:exactMatch HGNC_symbol:DND1 Unspecified DND1 +OMIM:609385 skos:exactMatch HGNC:23799 Unspecified DND1 +OMIM:609384 skos:exactMatch UMLS:C2750404 Unspecified fibrosis of extraocular muscles, congenital, 3c +OMIM:609383 skos:exactMatch HGNC:28018 Unspecified NIPAL4 +OMIM:609383 skos:exactMatch UMLS:C1836267 Unspecified NIPAL4 +OMIM:609383 skos:exactMatch HGNC_symbol:NIPAL4 Unspecified NIPAL4 +OMIM:609389 skos:exactMatch HGNC:17054 Unspecified INPP5F +OMIM:609389 skos:exactMatch HGNC_symbol:INPP5F Unspecified INPP5F +OMIM:609389 skos:exactMatch UMLS:C1424712 Unspecified INPP5F +OMIM:609388 skos:exactMatch UMLS:C1825979 Unspecified METTL9 +OMIM:609388 skos:exactMatch HGNC_symbol:METTL9 Unspecified METTL9 +OMIM:609388 skos:exactMatch HGNC:24586 Unspecified METTL9 +OMIM:609387 skos:exactMatch HGNC:20466 Unspecified SMC6 +OMIM:609387 skos:exactMatch UMLS:C1822782 Unspecified SMC6 +OMIM:609387 skos:exactMatch HGNC_symbol:SMC6 Unspecified SMC6 +OMIM:610357 skos:exactMatch ORPHA:101010 Unspecified spastic paraplegia 30, autosomal dominant +OMIM:610357 skos:exactMatch UMLS:C5235139 Unspecified spastic paraplegia 30, autosomal dominant +OMIM:610356 skos:exactMatch UMLS:C1835897 Unspecified retinal cone dystrophy 3b +OMIM:610359 skos:exactMatch UMLS:C1835895 Unspecified retinitis pigmentosa 33 +OMIM:610358 skos:exactMatch HGNC_symbol:SPCS1 Unspecified SPCS1 +OMIM:610358 skos:exactMatch UMLS:C1539816 Unspecified SPCS1 +OMIM:610358 skos:exactMatch HGNC:23401 Unspecified SPCS1 +OMIM:610353 skos:exactMatch UMLS:C1835905 Unspecified epilepsy, nocturnal frontal lobe, 4 +OMIM:610353 skos:exactMatch UMLS:C4692954 Unspecified epilepsy, nocturnal frontal lobe, 4 +OMIM:610353 skos:exactMatch UMLS:C4692955 Unspecified epilepsy, nocturnal frontal lobe, 4 +OMIM:260950 skos:exactMatch UMLS:C0266929 Unspecified periodontitis, chronic +OMIM:610352 skos:exactMatch UMLS:C1822786 Unspecified PPP4R3B +OMIM:610352 skos:exactMatch HGNC_symbol:PPP4R3B Unspecified PPP4R3B +OMIM:610352 skos:exactMatch HGNC:29267 Unspecified PPP4R3B +OMIM:610355 skos:exactMatch UMLS:C1835898 Unspecified PALB2 +OMIM:610355 skos:exactMatch HGNC:26144 Unspecified PALB2 +OMIM:610355 skos:exactMatch HGNC_symbol:PALB2 Unspecified PALB2 +OMIM:610354 skos:exactMatch HGNC:17686 Unspecified RIC1 +OMIM:610354 skos:exactMatch UMLS:C1425035 Unspecified RIC1 +OMIM:610354 skos:exactMatch HGNC_symbol:RIC1 Unspecified RIC1 +OMIM:610354 skos:exactMatch UMLS:C5231492 Unspecified RIC1 +OMIM:610360 skos:exactMatch HGNC:23282 Unspecified MUC20 +OMIM:610360 skos:exactMatch UMLS:C1428023 Unspecified MUC20 +OMIM:610360 skos:exactMatch HGNC_symbol:MUC20 Unspecified MUC20 +OMIM:609371 skos:exactMatch HGNC:1335 Unspecified C5ORF5 +OMIM:609371 skos:exactMatch UMLS:C1413010 Unspecified C5ORF5 +OMIM:609371 skos:exactMatch HGNC_symbol:FAM13B Unspecified C5ORF5 +OMIM:609370 skos:exactMatch HGNC:16254 Unspecified STK35 +OMIM:609370 skos:exactMatch HGNC_symbol:STK35 Unspecified STK35 +OMIM:609370 skos:exactMatch UMLS:C1424127 Unspecified STK35 +OMIM:610362 skos:exactMatch HGNC_symbol:RAX2 Unspecified RAX2 +OMIM:610362 skos:exactMatch HGNC:18286 Unspecified RAX2 +OMIM:610362 skos:exactMatch UMLS:C1826771 Unspecified RAX2 +OMIM:610361 skos:exactMatch UMLS:C1835894 Unspecified orofacial cleft 9 +OMIM:609375 skos:exactMatch UMLS:C1537574 Unspecified LIN9 +OMIM:609375 skos:exactMatch HGNC_symbol:LIN9 Unspecified LIN9 +OMIM:609375 skos:exactMatch HGNC:30830 Unspecified LIN9 +OMIM:609374 skos:exactMatch HGNC_symbol:CDCA5 Unspecified CDCA5 +OMIM:609374 skos:exactMatch HGNC:14626 Unspecified CDCA5 +OMIM:609374 skos:exactMatch UMLS:C1422798 Unspecified CDCA5 +OMIM:609373 skos:exactMatch HGNC_symbol:KDM3B Unspecified KDM3B +OMIM:609373 skos:exactMatch HGNC:1337 Unspecified KDM3B +OMIM:609373 skos:exactMatch UMLS:C1413012 Unspecified KDM3B +OMIM:609373 skos:exactMatch UMLS:C5394263 Unspecified KDM3B +OMIM:609372 skos:exactMatch HGNC:1336 Unspecified FAM53C +OMIM:609372 skos:exactMatch HGNC_symbol:FAM53C Unspecified FAM53C +OMIM:609372 skos:exactMatch UMLS:C1539458 Unspecified FAM53C +OMIM:609379 skos:exactMatch HGNC:17337 Unspecified LCN6 +OMIM:609379 skos:exactMatch HGNC_symbol:LCN6 Unspecified LCN6 +OMIM:609379 skos:exactMatch UMLS:C1424912 Unspecified LCN6 +OMIM:609378 skos:exactMatch UMLS:C1836271 Unspecified autism, susceptibility to, 6 +OMIM:609377 skos:exactMatch UMLS:C1538901 Unspecified ACD +OMIM:609377 skos:exactMatch HGNC_symbol:ACD Unspecified ACD +OMIM:609377 skos:exactMatch HGNC:25070 Unspecified ACD +OMIM:609376 skos:exactMatch UMLS:C1836272 Unspecified cataract 35 +OMIM:610349 skos:exactMatch HGNC_symbol:MAMSTR Unspecified MAMSTR +OMIM:610349 skos:exactMatch UMLS:C1835906 Unspecified MAMSTR +OMIM:610349 skos:exactMatch HGNC:26689 Unspecified MAMSTR +OMIM:610346 skos:exactMatch HGNC:17179 Unspecified CDC37L1 +OMIM:610346 skos:exactMatch UMLS:C1540301 Unspecified CDC37L1 +OMIM:610346 skos:exactMatch HGNC_symbol:CDC37L1 Unspecified CDC37L1 +OMIM:610345 skos:exactMatch HGNC_symbol:AGK Unspecified AGK +OMIM:610345 skos:exactMatch HGNC:21869 Unspecified AGK +OMIM:610345 skos:exactMatch UMLS:C1826611 Unspecified AGK +OMIM:247980 skos:exactMatch UMLS:C1416866 Unspecified LIPB +OMIM:247980 skos:exactMatch HGNC_symbol:LIPB Unspecified LIPB +OMIM:247980 skos:exactMatch HGNC:6618 Unspecified LIPB +OMIM:610348 skos:exactMatch HGNC:17814 Unspecified FAM178A +OMIM:610348 skos:exactMatch UMLS:C1425098 Unspecified FAM178A +OMIM:610348 skos:exactMatch HGNC_symbol:SLF2 Unspecified FAM178A +OMIM:610347 skos:exactMatch UMLS:C1835907 Unspecified RPRD1A +OMIM:610347 skos:exactMatch HGNC_symbol:RPRD1A Unspecified RPRD1A +OMIM:610347 skos:exactMatch HGNC:25560 Unspecified RPRD1A +OMIM:610342 skos:exactMatch HGNC_symbol:P3H3 Unspecified P3H3 +OMIM:610342 skos:exactMatch HGNC:19318 Unspecified P3H3 +OMIM:610342 skos:exactMatch UMLS:C1537564 Unspecified P3H3 +OMIM:610341 skos:exactMatch HGNC_symbol:P3H2 Unspecified P3H2 +OMIM:610341 skos:exactMatch HGNC:19317 Unspecified P3H2 +OMIM:610341 skos:exactMatch UMLS:C1537563 Unspecified P3H2 +OMIM:610344 skos:exactMatch HGNC:33628 Unspecified C2CD4B +OMIM:610344 skos:exactMatch HGNC_symbol:C2CD4B Unspecified C2CD4B +OMIM:610344 skos:exactMatch UMLS:C1835908 Unspecified C2CD4B +OMIM:610343 skos:exactMatch HGNC:33627 Unspecified C2CD4A +OMIM:610343 skos:exactMatch HGNC_symbol:C2CD4A Unspecified C2CD4A +OMIM:610343 skos:exactMatch UMLS:C1835909 Unspecified C2CD4A +OMIM:609360 skos:exactMatch HGNC:25641 Unspecified RNLS +OMIM:609360 skos:exactMatch HGNC_symbol:RNLS Unspecified RNLS +OMIM:609360 skos:exactMatch UMLS:C1538391 Unspecified RNLS +OMIM:257300 skos:exactMatch UMLS:C1850343 Unspecified mosaic variegated aneuploidy syndrome 1 +OMIM:257300 skos:exactMatch ORPHA:1052 Unspecified mosaic variegated aneuploidy syndrome 1 +OMIM:610351 skos:exactMatch UMLS:C1822785 Unspecified PPP4R3A +OMIM:610351 skos:exactMatch HGNC_symbol:PPP4R3A Unspecified PPP4R3A +OMIM:610351 skos:exactMatch HGNC:20219 Unspecified PPP4R3A +OMIM:610350 skos:exactMatch HGNC:30922 Unspecified LINS1 +OMIM:610350 skos:exactMatch HGNC_symbol:LINS1 Unspecified LINS1 +OMIM:610350 skos:exactMatch UMLS:C1537575 Unspecified LINS1 +OMIM:609364 skos:exactMatch HGNC:22948 Unspecified NLRP2 +OMIM:609364 skos:exactMatch HGNC_symbol:NLRP2 Unspecified NLRP2 +OMIM:609364 skos:exactMatch UMLS:C1427803 Unspecified NLRP2 +OMIM:609363 skos:exactMatch UMLS:C0266481 Unspecified colloid cysts of third ventricle +OMIM:609362 skos:exactMatch HGNC:17163 Unspecified LYPLA3 +OMIM:609362 skos:exactMatch HGNC_symbol:PLA2G15 Unspecified LYPLA3 +OMIM:609362 skos:exactMatch UMLS:C1424787 Unspecified LYPLA3 +OMIM:609361 skos:exactMatch HGNC:17261 Unspecified MOB4 +OMIM:609361 skos:exactMatch HGNC_symbol:MOB4 Unspecified MOB4 +OMIM:609361 skos:exactMatch UMLS:C1424857 Unspecified MOB4 +OMIM:609368 skos:exactMatch HGNC_symbol:ATL2 Unspecified ATL2 +OMIM:609368 skos:exactMatch UMLS:C1428340 Unspecified ATL2 +OMIM:609368 skos:exactMatch HGNC:24047 Unspecified ATL2 +OMIM:609367 skos:exactMatch HGNC:23419 Unspecified KIFBP +OMIM:609367 skos:exactMatch UMLS:C1428077 Unspecified KIFBP +OMIM:609367 skos:exactMatch HGNC_symbol:KIFBP Unspecified KIFBP +OMIM:609366 skos:exactMatch UMLS:C1824811 Unspecified CTR9 +OMIM:609366 skos:exactMatch HGNC:16850 Unspecified CTR9 +OMIM:609366 skos:exactMatch HGNC_symbol:CTR9 Unspecified CTR9 +OMIM:609365 skos:exactMatch HGNC_symbol:GNL2 Unspecified GNL2 +OMIM:609365 skos:exactMatch HGNC:29925 Unspecified GNL2 +OMIM:609365 skos:exactMatch UMLS:C1539587 Unspecified GNL2 +OMIM:609369 skos:exactMatch HGNC:24526 Unspecified ATL3 +OMIM:609369 skos:exactMatch HGNC_symbol:ATL3 Unspecified ATL3 +OMIM:609369 skos:exactMatch UMLS:C1836273 Unspecified ATL3 +OMIM:609369 skos:exactMatch UMLS:C3810194 Unspecified ATL3 +OMIM:221320 skos:exactMatch UMLS:C1857340 Unspecified deafness, conductive, with ptosis and skeletal anomalies +OMIM:247950 skos:exactMatch UMLS:C0796023 Unspecified lysine malabsorption syndrome +OMIM:211990 skos:exactMatch UMLS:C1859354 Unspecified camptomelic syndrome, long-limb iia +OMIM:233300 skos:exactMatch UMLS:C0949595 Unspecified ovarian dysgenesis 1 +OMIM:245300 skos:exactMatch UMLS:C1855588 Unspecified kuru, susceptibility to +OMIM:260920 skos:exactMatch UMLS:C0398691 Unspecified hyper-igd syndrome +OMIM:610397 skos:exactMatch HGNC:23066 Unspecified TRAPPC6B +OMIM:610397 skos:exactMatch UMLS:C1427887 Unspecified TRAPPC6B +OMIM:610397 skos:exactMatch HGNC_symbol:TRAPPC6B Unspecified TRAPPC6B +OMIM:610396 skos:exactMatch HGNC:23069 Unspecified TRAPPC6A +OMIM:610396 skos:exactMatch UMLS:C2986382 Unspecified TRAPPC6A +OMIM:610396 skos:exactMatch UMLS:C1427890 Unspecified TRAPPC6A +OMIM:610396 skos:exactMatch HGNC_symbol:TRAPPC6A Unspecified TRAPPC6A +OMIM:610399 skos:exactMatch HGNC_symbol:TMPRSS11E Unspecified TMPRSS11E +OMIM:610399 skos:exactMatch HGNC:24465 Unspecified TMPRSS11E +OMIM:610399 skos:exactMatch UMLS:C1540027 Unspecified TMPRSS11E +OMIM:610398 skos:exactMatch HGNC:25663 Unspecified SAP30L +OMIM:610398 skos:exactMatch UMLS:C1826975 Unspecified SAP30L +OMIM:610398 skos:exactMatch HGNC_symbol:SAP30L Unspecified SAP30L +OMIM:260910 skos:exactMatch UMLS:C0263506 Unspecified perifolliculitis capitis abscedens et suffodiens, familial +OMIM:610389 skos:exactMatch UMLS:C1835861 Unspecified LAMTOR2 +OMIM:610389 skos:exactMatch HGNC_symbol:LAMTOR2 Unspecified LAMTOR2 +OMIM:610389 skos:exactMatch HGNC:29796 Unspecified LAMTOR2 +OMIM:610386 skos:exactMatch UMLS:C1425408 Unspecified BTBD7 +OMIM:610386 skos:exactMatch HGNC:18269 Unspecified BTBD7 +OMIM:610386 skos:exactMatch HGNC_symbol:BTBD7 Unspecified BTBD7 +OMIM:610385 skos:exactMatch HGNC_symbol:TMEM176B Unspecified LR8 +OMIM:610385 skos:exactMatch HGNC:29596 Unspecified LR8 +OMIM:610385 skos:exactMatch UMLS:C1835864 Unspecified LR8 +OMIM:610388 skos:exactMatch HGNC_symbol:REM1 Unspecified REM1 +OMIM:610388 skos:exactMatch HGNC:15922 Unspecified REM1 +OMIM:610388 skos:exactMatch UMLS:C1538825 Unspecified REM1 +OMIM:610387 skos:exactMatch UMLS:C1835863 Unspecified SLC25A37 +OMIM:610387 skos:exactMatch HGNC_symbol:SLC25A37 Unspecified SLC25A37 +OMIM:610387 skos:exactMatch HGNC:29786 Unspecified SLC25A37 +OMIM:610393 skos:exactMatch HGNC:25973 Unspecified GON4L +OMIM:610393 skos:exactMatch UMLS:C1825392 Unspecified GON4L +OMIM:610393 skos:exactMatch HGNC_symbol:GON4L Unspecified GON4L +OMIM:610392 skos:exactMatch HGNC:23386 Unspecified MYCBP2 +OMIM:610392 skos:exactMatch UMLS:C1428063 Unspecified MYCBP2 +OMIM:610392 skos:exactMatch HGNC_symbol:MYCBP2 Unspecified MYCBP2 +OMIM:610395 skos:exactMatch HGNC_symbol:GLIPR1L1 Unspecified GLIPR1L1 +OMIM:610395 skos:exactMatch UMLS:C1825368 Unspecified GLIPR1L1 +OMIM:610395 skos:exactMatch HGNC:28392 Unspecified GLIPR1L1 +OMIM:260900 skos:exactMatch UMLS:C1850039 Unspecified pericardial effusion, chronic +OMIM:610394 skos:exactMatch HGNC_symbol:GLIPR1L2 Unspecified GLIPR1L2 +OMIM:610394 skos:exactMatch UMLS:C1825369 Unspecified GLIPR1L2 +OMIM:610394 skos:exactMatch HGNC:28592 Unspecified GLIPR1L2 +OMIM:610391 skos:exactMatch HGNC:23497 Unspecified PLPPR3 +OMIM:610391 skos:exactMatch HGNC_symbol:PLPPR3 Unspecified PLPPR3 +OMIM:610391 skos:exactMatch UMLS:C1835859 Unspecified PLPPR3 +OMIM:610390 skos:exactMatch HGNC_symbol:MPEG1 Unspecified MPEG1 +OMIM:610390 skos:exactMatch HGNC:29619 Unspecified MPEG1 +OMIM:610390 skos:exactMatch UMLS:C1835860 Unspecified MPEG1 +OMIM:211965 skos:exactMatch UMLS:C1859355 Unspecified camptodactyly-ichthyosis syndrome +OMIM:211960 skos:exactMatch UMLS:C1859356 Unspecified camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases +OMIM:259900 skos:exactMatch UMLS:C0268164 Unspecified hyperoxaluria, primary, iia 1 +OMIM:259900 skos:exactMatch ORPHA:93598 Unspecified hyperoxaluria, primary, iia 1 +OMIM:259900 skos:exactMatch ORPHA:416 Unspecified hyperoxaluria, primary, iia 1 +OMIM:221300 skos:exactMatch UMLS:C1857341 Unspecified deafness, conductive, with malformed external ear +OMIM:211980 skos:exactMatch UMLS:C0007131 Unspecified lung cancer +OMIM:211980 skos:exactMatch UMLS:C0007120 Unspecified lung cancer +OMIM:211980 skos:exactMatch UMLS:C0684249 Unspecified lung cancer +OMIM:211980 skos:exactMatch UMLS:C0152013 Unspecified lung cancer +OMIM:211980 skos:exactMatch UMLS:C1968897 Unspecified lung cancer +OMIM:137500 skos:exactMatch UMLS:C1842039 Unspecified giant neutrophil leukocytes +OMIM:223900 skos:exactMatch UMLS:C0013364 Unspecified neuropathy, hereditary sensory and autonomic, iia 3 +OMIM:223900 skos:exactMatch ORPHA:1764 Unspecified neuropathy, hereditary sensory and autonomic, iia 3 +OMIM:211910 skos:exactMatch ORPHA:1327 Unspecified camptodactyly syndrome, guadalajara, iia 1 +OMIM:211910 skos:exactMatch UMLS:C1859359 Unspecified camptodactyly syndrome, guadalajara, iia 1 +OMIM:125597 skos:exactMatch HGNC:3011 Unspecified DPT +OMIM:125597 skos:exactMatch HGNC_symbol:DPT Unspecified DPT +OMIM:125597 skos:exactMatch UMLS:C1414143 Unspecified DPT +OMIM:125595 skos:exactMatch UMLS:C0406778 Unspecified dermatopathia pigmentosa reticularis +OMIM:125590 skos:exactMatch UMLS:C1852156 Unspecified dermatoglyphics--fingerprint pattern +OMIM:211920 skos:exactMatch UMLS:C2673861 Unspecified camptodactyly syndrome, guadalajara, iia 2 +OMIM:125580 skos:exactMatch UMLS:C1852157 Unspecified dermatoglyphics--finger ridge count +OMIM:149500 skos:exactMatch UMLS:C0263382 Unspecified kyrle disease +OMIM:211930 skos:exactMatch UMLS:C1859357 Unspecified camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia +OMIM:235900 skos:exactMatch UMLS:C0334125 Unspecified histiocytosis, familial lipochrome +OMIM:125570 skos:exactMatch UMLS:C1852158 Unspecified dermatoglyphics--arch on any digit +OMIM:208300 skos:exactMatch UMLS:C0008732 Unspecified ascites, chylous +OMIM:150500 skos:exactMatch UMLS:C1835491 Unspecified lattice degeneration of retina leading to retinal detachment +OMIM:164800 skos:exactMatch UMLS:C1833909 Unspecified nail disorder, nonsyndromic congenital, 5 +OMIM:103880 skos:exactMatch UMLS:C1412322 Unspecified AKR1B1 +OMIM:103880 skos:exactMatch HGNC_symbol:AKR1B1 Unspecified AKR1B1 +OMIM:103880 skos:exactMatch HGNC:381 Unspecified AKR1B1 +OMIM:113200 skos:exactMatch UMLS:C0220664 Unspecified brachydactyly, iia d +OMIM:103890 skos:exactMatch UMLS:C1863110 Unspecified +OMIM:164820 skos:exactMatch UMLS:C0812233 Unspecified WNT1 +OMIM:164820 skos:exactMatch HGNC_symbol:WNT1 Unspecified WNT1 +OMIM:164820 skos:exactMatch HGNC:12774 Unspecified WNT1 +OMIM:137200 skos:exactMatch UMLS:C0242287 Unspecified neuromyotonia and axonal neuropathy, autosomal recessive +OMIM:137200 skos:exactMatch ORPHA:324442 Unspecified neuromyotonia and axonal neuropathy, autosomal recessive +OMIM:176807 skos:exactMatch ORPHA:1331 Unspecified prostate cancer +OMIM:176807 skos:exactMatch UMLS:C0376358 Unspecified prostate cancer +OMIM:137207 skos:exactMatch HGNC:4161 Unspecified LRRC32 +OMIM:137207 skos:exactMatch HGNC_symbol:LRRC32 Unspecified LRRC32 +OMIM:137207 skos:exactMatch UMLS:C1537607 Unspecified LRRC32 +OMIM:137207 skos:exactMatch UMLS:C5436739 Unspecified LRRC32 +OMIM:176804 skos:exactMatch HGNC:9594 Unspecified PTGER2 +OMIM:176804 skos:exactMatch HGNC_symbol:PTGER2 Unspecified PTGER2 +OMIM:176804 skos:exactMatch UMLS:C1419062 Unspecified PTGER2 +OMIM:176803 skos:exactMatch HGNC:9592 Unspecified PTGDS +OMIM:176803 skos:exactMatch HGNC_symbol:PTGDS Unspecified PTGDS +OMIM:176803 skos:exactMatch UMLS:C1419060 Unspecified PTGDS +OMIM:176806 skos:exactMatch UMLS:C1419063 Unspecified PTGER3 +OMIM:176806 skos:exactMatch HGNC:9595 Unspecified PTGER3 +OMIM:176806 skos:exactMatch HGNC_symbol:PTGER3 Unspecified PTGER3 +OMIM:176805 skos:exactMatch UMLS:C1144025 Unspecified PTGS1 +OMIM:176805 skos:exactMatch UMLS:C1335271 Unspecified PTGS1 +OMIM:176805 skos:exactMatch HGNC:9604 Unspecified PTGS1 +OMIM:176805 skos:exactMatch HGNC_symbol:PTGS1 Unspecified PTGS1 +OMIM:176800 skos:exactMatch UMLS:C1867726 Unspecified pronation-supination of the forearm, impairment of +OMIM:176802 skos:exactMatch HGNC:9593 Unspecified PTGER1 +OMIM:176802 skos:exactMatch HGNC_symbol:PTGER1 Unspecified PTGER1 +OMIM:176802 skos:exactMatch UMLS:C1419061 Unspecified PTGER1 +OMIM:176801 skos:exactMatch UMLS:C1418975 Unspecified PSAP +OMIM:176801 skos:exactMatch UMLS:C1867717 Unspecified PSAP +OMIM:176801 skos:exactMatch HGNC_symbol:PSAP Unspecified PSAP +OMIM:176801 skos:exactMatch HGNC:9498 Unspecified PSAP +OMIM:140850 skos:exactMatch UMLS:C0472694 Unspecified hemangiomas, cavernous, of face and supraumbilical midline raphe +OMIM:101200 skos:exactMatch UMLS:C1863389 Unspecified apert syndrome +OMIM:101200 skos:exactMatch UMLS:C1863391 Unspecified apert syndrome +OMIM:101200 skos:exactMatch UMLS:C0001193 Unspecified apert syndrome +OMIM:137216 skos:exactMatch UMLS:C1412645 Unspecified ATP4A +OMIM:137216 skos:exactMatch HGNC:819 Unspecified ATP4A +OMIM:137216 skos:exactMatch HGNC_symbol:ATP4A Unspecified ATP4A +OMIM:164810 skos:exactMatch HGNC:3796 Unspecified FOS +OMIM:164810 skos:exactMatch HGNC_symbol:FOS Unspecified FOS +OMIM:164810 skos:exactMatch UMLS:C0087140 Unspecified FOS +OMIM:137215 skos:exactMatch UMLS:C3149287 Unspecified diffuse gastric and lobular breast cancer syndrome +OMIM:137215 skos:exactMatch UMLS:C1708349 Unspecified diffuse gastric and lobular breast cancer syndrome +OMIM:137215 skos:exactMatch UMLS:C3549742 Unspecified diffuse gastric and lobular breast cancer syndrome +OMIM:137210 skos:exactMatch UMLS:C1850902 Unspecified gastric volvulus, intrathoracic +OMIM:137217 skos:exactMatch UMLS:C1412646 Unspecified ATP4B +OMIM:137217 skos:exactMatch HGNC_symbol:ATP4B Unspecified ATP4B +OMIM:137217 skos:exactMatch HGNC:820 Unspecified ATP4B +OMIM:127820 skos:exactMatch UMLS:C1851956 Unspecified dysplasia epiphysealis hemimelica with chondromas and osteochondromas +OMIM:103870 skos:exactMatch UMLS:C1412348 Unspecified ALDOC +OMIM:103870 skos:exactMatch HGNC_symbol:ALDOC Unspecified ALDOC +OMIM:103870 skos:exactMatch HGNC:418 Unspecified ALDOC +OMIM:609508 skos:exactMatch UMLS:C1836080 Unspecified stickler syndrome, iia i, nonsyndromic ocular +OMIM:609508 skos:exactMatch UMLS:C1836081 Unspecified stickler syndrome, iia i, nonsyndromic ocular +OMIM:609507 skos:exactMatch HGNC_symbol:TOPORS Unspecified TOPORS +OMIM:609507 skos:exactMatch HGNC:21653 Unspecified TOPORS +OMIM:609507 skos:exactMatch UMLS:C1427675 Unspecified TOPORS +OMIM:609506 skos:exactMatch UMLS:C1413865 Unspecified CYP27B1 +OMIM:609506 skos:exactMatch HGNC_symbol:CYP27B1 Unspecified CYP27B1 +OMIM:609506 skos:exactMatch HGNC:2606 Unspecified CYP27B1 +OMIM:500008 skos:exactMatch UMLS:C3151897 Unspecified deafness, nonsyndromic sensorineural, mitochondrial +OMIM:500009 skos:exactMatch UMLS:C3151898 Unspecified mitochondrial myopathy, infantile, transient +OMIM:609505 skos:exactMatch UMLS:C1424849 Unspecified TRIM16 +OMIM:609505 skos:exactMatch HGNC:17241 Unspecified TRIM16 +OMIM:609505 skos:exactMatch HGNC_symbol:TRIM16 Unspecified TRIM16 +OMIM:164840 skos:exactMatch HGNC:7559 Unspecified MYCN +OMIM:164840 skos:exactMatch HGNC_symbol:MYCN Unspecified MYCN +OMIM:164840 skos:exactMatch UMLS:C0812287 Unspecified MYCN +OMIM:137220 skos:exactMatch UMLS:C1850901 Unspecified gastric juice peptides +OMIM:609509 skos:exactMatch HGNC_symbol:IL31 Unspecified IL31 +OMIM:609509 skos:exactMatch HGNC:19372 Unspecified IL31 +OMIM:609509 skos:exactMatch UMLS:C1426200 Unspecified IL31 +OMIM:500002 skos:exactMatch ORPHA:2596 Unspecified mitochondrial myopathy with diabetes +OMIM:500002 skos:exactMatch UMLS:C1839028 Unspecified mitochondrial myopathy with diabetes +OMIM:500003 skos:exactMatch UMLS:C1839022 Unspecified striatonigral degeneration, infantile, mitochondrial +OMIM:500000 skos:exactMatch UMLS:C1708371 Unspecified cardiomyopathy, infantile histiocytoid +OMIM:500001 skos:exactMatch UMLS:C1839040 Unspecified leber optic atrophy and dystonia +OMIM:500006 skos:exactMatch UMLS:C2748884 Unspecified cardiomyopathy, infantile hypertrophic +OMIM:500007 skos:exactMatch UMLS:C1838991 Unspecified cyclic vomiting syndrome +OMIM:500007 skos:exactMatch UMLS:C1838992 Unspecified cyclic vomiting syndrome +OMIM:500007 skos:exactMatch UMLS:C0152164 Unspecified cyclic vomiting syndrome +OMIM:500004 skos:exactMatch UMLS:C0271097 Unspecified retinitis pigmentosa-deafness syndrome +OMIM:500005 skos:exactMatch UMLS:C1839021 Unspecified hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial +OMIM:149200 skos:exactMatch ORPHA:2698 Unspecified bart-pumphrey syndrome +OMIM:149200 skos:exactMatch UMLS:C0266004 Unspecified bart-pumphrey syndrome +OMIM:500010 skos:exactMatch UMLS:C1838916 Unspecified ataxia and polyneuropathy, adult-onset +OMIM:176820 skos:exactMatch UMLS:C1366489 Unspecified KLK3 +OMIM:176820 skos:exactMatch HGNC_symbol:KLK3 Unspecified KLK3 +OMIM:176820 skos:exactMatch HGNC:6364 Unspecified KLK3 +OMIM:609511 skos:exactMatch UMLS:C1427116 Unspecified RBSN +OMIM:609511 skos:exactMatch UMLS:C2986382 Unspecified RBSN +OMIM:609511 skos:exactMatch HGNC:20759 Unspecified RBSN +OMIM:609511 skos:exactMatch HGNC_symbol:RBSN Unspecified RBSN +OMIM:609510 skos:exactMatch HGNC_symbol:IL31RA Unspecified IL31RA +OMIM:609510 skos:exactMatch HGNC:18969 Unspecified IL31RA +OMIM:609510 skos:exactMatch UMLS:C1425928 Unspecified IL31RA +OMIM:609515 skos:exactMatch UMLS:C1836074 Unspecified iridogoniodysgenesis and skeletal anomalies +OMIM:609514 skos:exactMatch UMLS:C1424885 Unspecified TAF8 +OMIM:609514 skos:exactMatch HGNC:17300 Unspecified TAF8 +OMIM:609514 skos:exactMatch HGNC_symbol:TAF8 Unspecified TAF8 +OMIM:609513 skos:exactMatch UMLS:C1836075 Unspecified None +OMIM:609513 skos:exactMatch HGNC:33940 Unspecified None +OMIM:609513 skos:exactMatch HGNC_symbol:NPS Unspecified None +OMIM:609512 skos:exactMatch HGNC:24537 Unspecified CHMP2B +OMIM:609512 skos:exactMatch UMLS:C1538456 Unspecified CHMP2B +OMIM:609512 skos:exactMatch UMLS:C1836076 Unspecified CHMP2B +OMIM:609512 skos:exactMatch HGNC_symbol:CHMP2B Unspecified CHMP2B +OMIM:164831 skos:exactMatch UMLS:C1826623 Unspecified BMI1 +OMIM:164831 skos:exactMatch HGNC:1066 Unspecified BMI1 +OMIM:164831 skos:exactMatch HGNC_symbol:BMI1 Unspecified BMI1 +OMIM:188825 skos:exactMatch HGNC_symbol:TIMP2 Unspecified TIMP2 +OMIM:188825 skos:exactMatch UMLS:C1336629 Unspecified TIMP2 +OMIM:188825 skos:exactMatch HGNC:11821 Unspecified TIMP2 +OMIM:150205 skos:exactMatch UMLS:C1416903 Unspecified LPO +OMIM:150205 skos:exactMatch HGNC_symbol:LPO Unspecified LPO +OMIM:150205 skos:exactMatch HGNC:6678 Unspecified LPO +OMIM:127800 skos:exactMatch UMLS:C0432282 Unspecified dysplasia epiphysealis hemimelica +OMIM:150200 skos:exactMatch HGNC:2440 Unspecified CSH1 +OMIM:150200 skos:exactMatch UMLS:C1413752 Unspecified CSH1 +OMIM:150200 skos:exactMatch HGNC_symbol:CSH1 Unspecified CSH1 +OMIM:609500 skos:exactMatch UMLS:C2931230 Unspecified myopathy, autophagic vacuolar, infantile-onset +OMIM:137241 skos:exactMatch UMLS:C1333675 Unspecified GIPR +OMIM:137241 skos:exactMatch HGNC:4271 Unspecified GIPR +OMIM:137241 skos:exactMatch HGNC_symbol:GIPR Unspecified GIPR +OMIM:137240 skos:exactMatch UMLS:C1415067 Unspecified GIP +OMIM:137240 skos:exactMatch HGNC_symbol:GIP Unspecified GIP +OMIM:137240 skos:exactMatch HGNC:4270 Unspecified GIP +OMIM:188826 skos:exactMatch HGNC_symbol:TIMP3 Unspecified TIMP3 +OMIM:188826 skos:exactMatch UMLS:C1336630 Unspecified TIMP3 +OMIM:188826 skos:exactMatch HGNC:11822 Unspecified TIMP3 +OMIM:609504 skos:exactMatch HGNC:6960 Unspecified MCRS1 +OMIM:609504 skos:exactMatch UMLS:C1417080 Unspecified MCRS1 +OMIM:609504 skos:exactMatch HGNC_symbol:MCRS1 Unspecified MCRS1 +OMIM:103850 skos:exactMatch HGNC:414 Unspecified ALDOA +OMIM:103850 skos:exactMatch UMLS:C1412344 Unspecified ALDOA +OMIM:103850 skos:exactMatch HGNC_symbol:ALDOA Unspecified ALDOA +OMIM:609503 skos:exactMatch HGNC:13706 Unspecified THEG +OMIM:609503 skos:exactMatch UMLS:C1422153 Unspecified THEG +OMIM:609503 skos:exactMatch HGNC_symbol:THEG Unspecified THEG +OMIM:609502 skos:exactMatch UMLS:C1422749 Unspecified CDHR1 +OMIM:609502 skos:exactMatch HGNC:14550 Unspecified CDHR1 +OMIM:609502 skos:exactMatch HGNC_symbol:CDHR1 Unspecified CDHR1 +OMIM:609501 skos:exactMatch HGNC:11713 Unspecified TDRKH +OMIM:609501 skos:exactMatch HGNC_symbol:TDRKH Unspecified TDRKH +OMIM:609501 skos:exactMatch UMLS:C1420678 Unspecified TDRKH +OMIM:164865 skos:exactMatch UMLS:C1417528 Unspecified MYCLK1 +OMIM:164860 skos:exactMatch UMLS:C1336839 Unspecified MET +OMIM:164860 skos:exactMatch HGNC:7029 Unspecified MET +OMIM:164860 skos:exactMatch HGNC_symbol:MET Unspecified MET +OMIM:164860 skos:exactMatch UMLS:C4016289 Unspecified MET +OMIM:164860 skos:exactMatch UMLS:C4016290 Unspecified MET +OMIM:164860 skos:exactMatch UMLS:C1417123 Unspecified MET +OMIM:164860 skos:exactMatch UMLS:C4085248 Unspecified MET +OMIM:164860 skos:exactMatch UMLS:C4015968 Unspecified MET +OMIM:164860 skos:exactMatch UMLS:C4084709 Unspecified MET +OMIM:137245 skos:exactMatch UMLS:C1850900 Unspecified lymphoma, mucosa-associated lymphoid iia +OMIM:162200 skos:exactMatch UMLS:C0027831 Unspecified neurofibromatosis, iia 1 +OMIM:162200 skos:exactMatch ORPHA:363700 Unspecified neurofibromatosis, iia 1 +OMIM:162200 skos:exactMatch ORPHA:636 Unspecified neurofibromatosis, iia 1 +OMIM:176847 skos:exactMatch HGNC_symbol:PSMB10 Unspecified PSMB10 +OMIM:176847 skos:exactMatch HGNC:9538 Unspecified PSMB10 +OMIM:176847 skos:exactMatch UMLS:C1419011 Unspecified PSMB10 +OMIM:176844 skos:exactMatch HGNC:9534 Unspecified PSMA5 +OMIM:176844 skos:exactMatch UMLS:C1419007 Unspecified PSMA5 +OMIM:176844 skos:exactMatch HGNC_symbol:PSMA5 Unspecified PSMA5 +OMIM:176843 skos:exactMatch HGNC:9532 Unspecified PSMA3 +OMIM:176843 skos:exactMatch UMLS:C1419005 Unspecified PSMA3 +OMIM:176843 skos:exactMatch HGNC_symbol:PSMA3 Unspecified PSMA3 +OMIM:176846 skos:exactMatch HGNC:9533 Unspecified PSMA4 +OMIM:176846 skos:exactMatch UMLS:C1419006 Unspecified PSMA4 +OMIM:176846 skos:exactMatch HGNC_symbol:PSMA4 Unspecified PSMA4 +OMIM:176845 skos:exactMatch UMLS:C1867707 Unspecified PSC8 +OMIM:150210 skos:exactMatch UMLS:C1416933 Unspecified LTF +OMIM:150210 skos:exactMatch HGNC_symbol:LTF Unspecified LTF +OMIM:150210 skos:exactMatch HGNC:6720 Unspecified LTF +OMIM:176842 skos:exactMatch HGNC:9531 Unspecified PSMA2 +OMIM:176842 skos:exactMatch UMLS:C1419004 Unspecified PSMA2 +OMIM:176842 skos:exactMatch HGNC_symbol:PSMA2 Unspecified PSMA2 +OMIM:137250 skos:exactMatch UMLS:C1439341 Unspecified GAST +OMIM:137250 skos:exactMatch HGNC_symbol:GAST Unspecified GAST +OMIM:137250 skos:exactMatch HGNC:4164 Unspecified GAST +OMIM:188800 skos:exactMatch UMLS:C1861097 Unspecified tibial torsion, bilateral medial +OMIM:115800 skos:exactMatch UMLS:C3805409 Unspecified cataract 29 +OMIM:164850 skos:exactMatch HGNC:7555 Unspecified MYCL +OMIM:164850 skos:exactMatch HGNC_symbol:MYCL Unspecified MYCL +OMIM:164850 skos:exactMatch UMLS:C0812289 Unspecified MYCL +OMIM:500014 skos:exactMatch UMLS:C4746992 Unspecified mitochondrial complex 1 deficiency, mitochondrial iia 1 +OMIM:500011 skos:exactMatch UMLS:C4225415 Unspecified myopathy, lactic acidosis, and sideroblastic anemia 3 +OMIM:500015 skos:exactMatch UMLS:C3275684 Unspecified mitochondrial complex 5 (atp synthase) deficiency, mitochondrial iia 1 +OMIM:176830 skos:exactMatch HGNC:9201 Unspecified POMC +OMIM:176830 skos:exactMatch HGNC_symbol:POMC Unspecified POMC +OMIM:176830 skos:exactMatch UMLS:C1337111 Unspecified POMC +OMIM:137260 skos:exactMatch HGNC_symbol:GRP Unspecified GRP +OMIM:137260 skos:exactMatch UMLS:C1333714 Unspecified GRP +OMIM:137260 skos:exactMatch HGNC:4605 Unspecified GRP +OMIM:103830 skos:exactMatch HGNC_symbol:AKR1A1 Unspecified AKR1A1 +OMIM:103830 skos:exactMatch HGNC:380 Unspecified AKR1A1 +OMIM:103830 skos:exactMatch UMLS:C1412321 Unspecified AKR1A1 +OMIM:188855 skos:exactMatch HGNC:4414 Unspecified GNLY +OMIM:188855 skos:exactMatch HGNC_symbol:GNLY Unspecified GNLY +OMIM:188855 skos:exactMatch UMLS:C1415164 Unspecified GNLY +OMIM:609549 skos:exactMatch UMLS:C1836006 Unspecified nanophthalmos 2 +OMIM:610537 skos:exactMatch HGNC_symbol:DPP7 Unspecified DPP7 +OMIM:610537 skos:exactMatch HGNC:14892 Unspecified DPP7 +OMIM:610537 skos:exactMatch UMLS:C1423031 Unspecified DPP7 +OMIM:610536 skos:exactMatch UMLS:C1864652 Unspecified mandibulofacial dysostosis, guion-almeida iia +OMIM:610539 skos:exactMatch UMLS:C1864651 Unspecified gaucher disease, atypical, due to saposin c deficiency +OMIM:610538 skos:exactMatch HGNC:25009 Unspecified UBE2T +OMIM:610538 skos:exactMatch UMLS:C1540147 Unspecified UBE2T +OMIM:610538 skos:exactMatch HGNC_symbol:UBE2T Unspecified UBE2T +OMIM:164880 skos:exactMatch UMLS:C0919479 Unspecified YES1 +OMIM:164880 skos:exactMatch HGNC_symbol:YES1 Unspecified YES1 +OMIM:164880 skos:exactMatch HGNC:12841 Unspecified YES1 +OMIM:610533 skos:exactMatch HGNC_symbol:WWC1 Unspecified WWC1 +OMIM:610533 skos:exactMatch UMLS:C1823863 Unspecified WWC1 +OMIM:610533 skos:exactMatch HGNC:29435 Unspecified WWC1 +OMIM:610532 skos:exactMatch UMLS:C1864663 Unspecified leukodystrophy, hypomyelinating, 5 +OMIM:610535 skos:exactMatch UMLS:C1864653 Unspecified glaucoma 1, open angle, m +OMIM:610534 skos:exactMatch UMLS:C1539228 Unspecified DCPS +OMIM:610534 skos:exactMatch HGNC_symbol:DCPS Unspecified DCPS +OMIM:610534 skos:exactMatch HGNC:29812 Unspecified DCPS +OMIM:188850 skos:exactMatch UMLS:C0076628 Unspecified tl antigen +OMIM:610531 skos:exactMatch HGNC_symbol:FAM126A Unspecified FAM126A +OMIM:610531 skos:exactMatch HGNC:24587 Unspecified FAM126A +OMIM:610531 skos:exactMatch UMLS:C1825268 Unspecified FAM126A +OMIM:610530 skos:exactMatch UMLS:C1425950 Unspecified TRIM41 +OMIM:610530 skos:exactMatch HGNC:19013 Unspecified TRIM41 +OMIM:610530 skos:exactMatch HGNC_symbol:TRIM41 Unspecified TRIM41 +OMIM:609551 skos:exactMatch HGNC:16986 Unspecified LMAN2 +OMIM:609551 skos:exactMatch UMLS:C1424674 Unspecified LMAN2 +OMIM:609551 skos:exactMatch HGNC_symbol:LMAN2 Unspecified LMAN2 +OMIM:609550 skos:exactMatch HGNC:15462 Unspecified ZNF330 +OMIM:609550 skos:exactMatch UMLS:C1423505 Unspecified ZNF330 +OMIM:609550 skos:exactMatch HGNC_symbol:ZNF330 Unspecified ZNF330 +OMIM:174200 skos:exactMatch UMLS:C3887487 Unspecified polydactyly, postaxial, iia a1 +OMIM:174200 skos:exactMatch UMLS:C1868120 Unspecified polydactyly, postaxial, iia a1 +OMIM:174200 skos:exactMatch UMLS:C4282400 Unspecified polydactyly, postaxial, iia a1 +OMIM:150230 skos:exactMatch ORPHA:502 Unspecified trichorhinophalangeal syndrome, iia 2 +OMIM:150230 skos:exactMatch UMLS:C0023003 Unspecified trichorhinophalangeal syndrome, iia 2 +OMIM:609555 skos:exactMatch UMLS:C1824787 Unspecified CPXM1 +OMIM:609555 skos:exactMatch HGNC:15771 Unspecified CPXM1 +OMIM:609555 skos:exactMatch HGNC_symbol:CPXM1 Unspecified CPXM1 +OMIM:609554 skos:exactMatch HGNC_symbol:ITM2C Unspecified ITM2C +OMIM:609554 skos:exactMatch HGNC:6175 Unspecified ITM2C +OMIM:609554 skos:exactMatch UMLS:C1416513 Unspecified ITM2C +OMIM:176860 skos:exactMatch UMLS:C2674321 Unspecified thrombophilia due to protein c deficiency, autosomal dominant +OMIM:176860 skos:exactMatch UMLS:C2674322 Unspecified thrombophilia due to protein c deficiency, autosomal dominant +OMIM:609553 skos:exactMatch HGNC:30310 Unspecified None +OMIM:609553 skos:exactMatch HGNC_symbol:RTBDN Unspecified None +OMIM:609553 skos:exactMatch UMLS:C1826948 Unspecified None +OMIM:609552 skos:exactMatch UMLS:C1426128 Unspecified LMAN2L +OMIM:609552 skos:exactMatch HGNC_symbol:LMAN2L Unspecified LMAN2L +OMIM:609552 skos:exactMatch HGNC:19263 Unspecified LMAN2L +OMIM:609559 skos:exactMatch HGNC_symbol:CAMKMT Unspecified CAMKMT +OMIM:609559 skos:exactMatch UMLS:C1824103 Unspecified CAMKMT +OMIM:609559 skos:exactMatch HGNC:26276 Unspecified CAMKMT +OMIM:609558 skos:exactMatch UMLS:C1836005 Unspecified prostate cancer, hereditary, 6 +OMIM:609557 skos:exactMatch HGNC:30228 Unspecified PREPL +OMIM:609557 skos:exactMatch HGNC_symbol:PREPL Unspecified PREPL +OMIM:609557 skos:exactMatch UMLS:C1538715 Unspecified PREPL +OMIM:137270 skos:exactMatch UMLS:C1850899 Unspecified gastrocutaneous syndrome +OMIM:609556 skos:exactMatch HGNC_symbol:ATP13A4 Unspecified ATP13A4 +OMIM:609556 skos:exactMatch HGNC:25422 Unspecified ATP13A4 +OMIM:609556 skos:exactMatch UMLS:C1540217 Unspecified ATP13A4 +OMIM:610529 skos:exactMatch HGNC:31010 Unspecified TUSC1 +OMIM:610529 skos:exactMatch HGNC_symbol:TUSC1 Unspecified TUSC1 +OMIM:610529 skos:exactMatch UMLS:C1540131 Unspecified TUSC1 +OMIM:164875 skos:exactMatch UMLS:C1336926 Unspecified VAV1 +OMIM:164875 skos:exactMatch HGNC:12657 Unspecified VAV1 +OMIM:164875 skos:exactMatch HGNC_symbol:VAV1 Unspecified VAV1 +OMIM:609539 skos:exactMatch HGNC:18037 Unspecified ARID2 +OMIM:609539 skos:exactMatch HGNC_symbol:ARID2 Unspecified ARID2 +OMIM:609539 skos:exactMatch UMLS:C1425257 Unspecified ARID2 +OMIM:186200 skos:exactMatch UMLS:C1861355 Unspecified syndactyly, iia 4 +OMIM:609538 skos:exactMatch UMLS:C1538749 Unspecified PTPMT1 +OMIM:609538 skos:exactMatch HGNC_symbol:PTPMT1 Unspecified PTPMT1 +OMIM:609538 skos:exactMatch HGNC:26965 Unspecified PTPMT1 +OMIM:164873 skos:exactMatch HGNC_symbol:ETV3 Unspecified ETV3 +OMIM:164873 skos:exactMatch UMLS:C0812270 Unspecified ETV3 +OMIM:164873 skos:exactMatch HGNC:3492 Unspecified ETV3 +OMIM:610526 skos:exactMatch HGNC:17818 Unspecified NT5C1B +OMIM:610526 skos:exactMatch UMLS:C1425100 Unspecified NT5C1B +OMIM:610526 skos:exactMatch HGNC_symbol:NT5C1B Unspecified NT5C1B +OMIM:162210 skos:exactMatch UMLS:C1834235 Unspecified neurofibromatosis, familial spinal +OMIM:164874 skos:exactMatch HGNC_symbol:FOXG1 Unspecified FOXG1 +OMIM:164874 skos:exactMatch UMLS:C0812297 Unspecified FOXG1 +OMIM:164874 skos:exactMatch HGNC:3811 Unspecified FOXG1 +OMIM:610525 skos:exactMatch HGNC:17819 Unspecified NT5C1A +OMIM:610525 skos:exactMatch UMLS:C1425101 Unspecified NT5C1A +OMIM:610525 skos:exactMatch HGNC_symbol:NT5C1A Unspecified NT5C1A +OMIM:610528 skos:exactMatch HGNC:20153 Unspecified CHD8 +OMIM:610528 skos:exactMatch HGNC_symbol:CHD8 Unspecified CHD8 +OMIM:610528 skos:exactMatch UMLS:C1538450 Unspecified CHD8 +OMIM:610527 skos:exactMatch UMLS:C1823559 Unspecified TXNDC1 +OMIM:610527 skos:exactMatch HGNC:15487 Unspecified TXNDC1 +OMIM:610527 skos:exactMatch HGNC_symbol:TMX1 Unspecified TXNDC1 +OMIM:610522 skos:exactMatch UMLS:C1864832 Unspecified None +OMIM:610522 skos:exactMatch HGNC:24226 Unspecified None +OMIM:610522 skos:exactMatch HGNC_symbol:C5orf38 Unspecified None +OMIM:164870 skos:exactMatch UMLS:C0242957 Unspecified ERBB2 +OMIM:164870 skos:exactMatch HGNC:3430 Unspecified ERBB2 +OMIM:164870 skos:exactMatch HGNC_symbol:ERBB2 Unspecified ERBB2 +OMIM:610521 skos:exactMatch HGNC:14678 Unspecified KCTD12 +OMIM:610521 skos:exactMatch HGNC_symbol:KCTD12 Unspecified KCTD12 +OMIM:610521 skos:exactMatch UMLS:C1422834 Unspecified KCTD12 +OMIM:610524 skos:exactMatch HGNC_symbol:ERVFRD-1 Unspecified ERVFRD1 +OMIM:610524 skos:exactMatch HGNC:33823 Unspecified ERVFRD1 +OMIM:610524 skos:exactMatch UMLS:C1864667 Unspecified ERVFRD1 +OMIM:188860 skos:exactMatch HGNC:6817 Unspecified MAL +OMIM:188860 skos:exactMatch UMLS:C1416989 Unspecified MAL +OMIM:188860 skos:exactMatch HGNC_symbol:MAL Unspecified MAL +OMIM:610523 skos:exactMatch HGNC_symbol:CEP41 Unspecified CEP41 +OMIM:610523 skos:exactMatch HGNC:12370 Unspecified CEP41 +OMIM:610523 skos:exactMatch UMLS:C1421198 Unspecified CEP41 +OMIM:610520 skos:exactMatch HGNC:30455 Unspecified CD300LG +OMIM:610520 skos:exactMatch HGNC_symbol:CD300LG Unspecified CD300LG +OMIM:610520 skos:exactMatch UMLS:C1824681 Unspecified CD300LG +OMIM:176851 skos:exactMatch HGNC:8728 Unspecified PCMT1 +OMIM:176851 skos:exactMatch UMLS:C1442741 Unspecified PCMT1 +OMIM:176851 skos:exactMatch HGNC_symbol:PCMT1 Unspecified PCMT1 +OMIM:609540 skos:exactMatch UMLS:C1823825 Unspecified WDR61 +OMIM:609540 skos:exactMatch HGNC:30300 Unspecified WDR61 +OMIM:609540 skos:exactMatch HGNC_symbol:WDR61 Unspecified WDR61 +OMIM:609544 skos:exactMatch UMLS:C1836008 Unspecified CCP110 +OMIM:609544 skos:exactMatch HGNC_symbol:CCP110 Unspecified CCP110 +OMIM:609544 skos:exactMatch HGNC:24342 Unspecified CCP110 +OMIM:150240 skos:exactMatch HGNC:6486 Unspecified LAMB1 +OMIM:150240 skos:exactMatch HGNC_symbol:LAMB1 Unspecified LAMB1 +OMIM:150240 skos:exactMatch UMLS:C1416780 Unspecified LAMB1 +OMIM:609543 skos:exactMatch UMLS:C1836009 Unspecified LINC00293 +OMIM:609543 skos:exactMatch HGNC:39078 Unspecified LINC00293 +OMIM:609543 skos:exactMatch HGNC_symbol:LINC00293 Unspecified LINC00293 +OMIM:609542 skos:exactMatch HGNC_symbol:ATP8A1 Unspecified ATP8A1 +OMIM:609542 skos:exactMatch HGNC:13531 Unspecified ATP8A1 +OMIM:609542 skos:exactMatch UMLS:C1422042 Unspecified ATP8A1 +OMIM:609541 skos:exactMatch UMLS:C1836010 Unspecified spastic paraplegia, optic atrophy, and neuropathy +OMIM:609548 skos:exactMatch UMLS:C1416875 Unspecified LMAN1L +OMIM:609548 skos:exactMatch HGNC_symbol:LMAN1L Unspecified LMAN1L +OMIM:609548 skos:exactMatch HGNC:6632 Unspecified LMAN1L +OMIM:609546 skos:exactMatch HGNC:18563 Unspecified USP29 +OMIM:609546 skos:exactMatch HGNC_symbol:USP29 Unspecified USP29 +OMIM:609546 skos:exactMatch UMLS:C1425603 Unspecified USP29 +OMIM:609545 skos:exactMatch UMLS:C1836007 Unspecified omphalocele, diaphragmatic hernia, and radial ray defects +OMIM:137280 skos:exactMatch ORPHA:2494 Unspecified gastritis, familial giant hypertrophic +OMIM:137280 skos:exactMatch UMLS:C2936660 Unspecified gastritis, familial giant hypertrophic +OMIM:137280 skos:exactMatch UMLS:C0017155 Unspecified gastritis, familial giant hypertrophic +OMIM:610519 skos:exactMatch HGNC:18748 Unspecified CNTNAP5 +OMIM:610519 skos:exactMatch UMLS:C1539119 Unspecified CNTNAP5 +OMIM:610519 skos:exactMatch HGNC_symbol:CNTNAP5 Unspecified CNTNAP5 +OMIM:610518 skos:exactMatch HGNC:18747 Unspecified CNTNAP4 +OMIM:610518 skos:exactMatch UMLS:C1539118 Unspecified CNTNAP4 +OMIM:610518 skos:exactMatch HGNC_symbol:CNTNAP4 Unspecified CNTNAP4 +OMIM:609529 skos:exactMatch UMLS:C1836032 Unspecified immunoglobulin a deficiency 2 +OMIM:609528 skos:exactMatch UMLS:C1836033 Unspecified cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome +OMIM:609527 skos:exactMatch HGNC:16862 Unspecified RAPGEF5 +OMIM:609527 skos:exactMatch HGNC_symbol:RAPGEF5 Unspecified RAPGEF5 +OMIM:609527 skos:exactMatch UMLS:C1424601 Unspecified RAPGEF5 +OMIM:610515 skos:exactMatch HGNC:22984 Unspecified PHF15 +OMIM:610515 skos:exactMatch UMLS:C1427836 Unspecified PHF15 +OMIM:610515 skos:exactMatch HGNC_symbol:JADE2 Unspecified PHF15 +OMIM:188830 skos:exactMatch HGNC:9388 Unspecified PRKAR1A +OMIM:188830 skos:exactMatch HGNC_symbol:PRKAR1A Unspecified PRKAR1A +OMIM:188830 skos:exactMatch UMLS:C2931787 Unspecified PRKAR1A +OMIM:188830 skos:exactMatch UMLS:C1864846 Unspecified PRKAR1A +OMIM:188830 skos:exactMatch UMLS:C2607929 Unspecified PRKAR1A +OMIM:188830 skos:exactMatch UMLS:C4016392 Unspecified PRKAR1A +OMIM:188830 skos:exactMatch UMLS:C4016394 Unspecified PRKAR1A +OMIM:188830 skos:exactMatch UMLS:C4016393 Unspecified PRKAR1A +OMIM:188830 skos:exactMatch UMLS:C0406810 Unspecified PRKAR1A +OMIM:188830 skos:exactMatch UMLS:C1418907 Unspecified PRKAR1A +OMIM:610514 skos:exactMatch UMLS:C1428920 Unspecified PHF17 +OMIM:610514 skos:exactMatch HGNC:30027 Unspecified PHF17 +OMIM:610514 skos:exactMatch HGNC_symbol:JADE1 Unspecified PHF17 +OMIM:610517 skos:exactMatch HGNC_symbol:CNTNAP3 Unspecified CNTNAP3 +OMIM:610517 skos:exactMatch UMLS:C1539117 Unspecified CNTNAP3 +OMIM:610517 skos:exactMatch HGNC:13834 Unspecified CNTNAP3 +OMIM:610516 skos:exactMatch HGNC_symbol:GLYCTK Unspecified GLYCTK +OMIM:610516 skos:exactMatch UMLS:C1864833 Unspecified GLYCTK +OMIM:610516 skos:exactMatch HGNC:24247 Unspecified GLYCTK +OMIM:610511 skos:exactMatch UMLS:C1419925 Unspecified SEC23A +OMIM:610511 skos:exactMatch HGNC_symbol:SEC23A Unspecified SEC23A +OMIM:610511 skos:exactMatch HGNC:10701 Unspecified SEC23A +OMIM:610510 skos:exactMatch HGNC_symbol:BORA Unspecified BORA +OMIM:610510 skos:exactMatch HGNC:24724 Unspecified BORA +OMIM:610510 skos:exactMatch UMLS:C1824391 Unspecified BORA +OMIM:610513 skos:exactMatch UMLS:C1847640 Unspecified ATP13A2 +OMIM:610513 skos:exactMatch HGNC:30213 Unspecified ATP13A2 +OMIM:610513 skos:exactMatch HGNC_symbol:ATP13A2 Unspecified ATP13A2 +OMIM:610513 skos:exactMatch UMLS:C4310662 Unspecified ATP13A2 +OMIM:610513 skos:exactMatch UMLS:C1540215 Unspecified ATP13A2 +OMIM:259680 skos:exactMatch ORPHA:324964 Unspecified chronic recurrent multifocal osteomyelitis +OMIM:259680 skos:exactMatch UMLS:C0410422 Unspecified chronic recurrent multifocal osteomyelitis +OMIM:162240 skos:exactMatch UMLS:C1834232 Unspecified neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome +OMIM:610512 skos:exactMatch UMLS:C1419926 Unspecified SEC23B +OMIM:610512 skos:exactMatch HGNC_symbol:SEC23B Unspecified SEC23B +OMIM:610512 skos:exactMatch HGNC:10702 Unspecified SEC23B +OMIM:176888 skos:exactMatch UMLS:C1419118 Unspecified PTPRM +OMIM:176888 skos:exactMatch HGNC_symbol:PTPRM Unspecified PTPRM +OMIM:176888 skos:exactMatch HGNC:9675 Unspecified PTPRM +OMIM:176887 skos:exactMatch UMLS:C1419100 Unspecified PTPN2 +OMIM:176887 skos:exactMatch HGNC_symbol:PTPN2 Unspecified PTPN2 +OMIM:176887 skos:exactMatch HGNC:9650 Unspecified PTPN2 +OMIM:176889 skos:exactMatch HGNC_symbol:PTPN7 Unspecified PTPN7 +OMIM:176889 skos:exactMatch HGNC:9659 Unspecified PTPN7 +OMIM:176889 skos:exactMatch UMLS:C1335284 Unspecified PTPN7 +OMIM:176884 skos:exactMatch UMLS:C1419111 Unspecified PTPRA +OMIM:176884 skos:exactMatch HGNC_symbol:PTPRA Unspecified PTPRA +OMIM:176884 skos:exactMatch HGNC:9664 Unspecified PTPRA +OMIM:176883 skos:exactMatch HGNC_symbol:PTPN6 Unspecified PTPN6 +OMIM:176883 skos:exactMatch HGNC:9658 Unspecified PTPN6 +OMIM:176883 skos:exactMatch UMLS:C1335283 Unspecified PTPN6 +OMIM:176886 skos:exactMatch HGNC_symbol:PTPRG Unspecified PTPRG +OMIM:176886 skos:exactMatch HGNC:9671 Unspecified PTPRG +OMIM:176886 skos:exactMatch UMLS:C1335287 Unspecified PTPRG +OMIM:176885 skos:exactMatch HGNC_symbol:PTPN1 Unspecified PTPN1 +OMIM:176885 skos:exactMatch HGNC:9642 Unspecified PTPN1 +OMIM:176885 skos:exactMatch UMLS:C1335281 Unspecified PTPN1 +OMIM:150250 skos:exactMatch UMLS:C0175778 Unspecified larsen syndrome +OMIM:176880 skos:exactMatch UMLS:C1418948 Unspecified PROS1 +OMIM:176880 skos:exactMatch HGNC_symbol:PROS1 Unspecified PROS1 +OMIM:176880 skos:exactMatch UMLS:C1867626 Unspecified PROS1 +OMIM:176880 skos:exactMatch HGNC:9456 Unspecified PROS1 +OMIM:609533 skos:exactMatch UMLS:C1836027 Unspecified deafness, autosomal recessive 23 +OMIM:609532 skos:exactMatch UMLS:C1835407 Unspecified hepatitis c virus, susceptibility to +OMIM:272650 skos:exactMatch UMLS:C1848931 Unspecified tatsumi factor deficiency +OMIM:176882 skos:exactMatch HGNC_symbol:PTPRB Unspecified PTPRB +OMIM:176882 skos:exactMatch HGNC:9665 Unspecified PTPRB +OMIM:176882 skos:exactMatch UMLS:C1419112 Unspecified PTPRB +OMIM:609531 skos:exactMatch HGNC:14545 Unspecified RASGRP3 +OMIM:609531 skos:exactMatch HGNC_symbol:RASGRP3 Unspecified RASGRP3 +OMIM:609531 skos:exactMatch UMLS:C1422744 Unspecified RASGRP3 +OMIM:137295 skos:exactMatch HGNC_symbol:GATA2 Unspecified GATA2 +OMIM:137295 skos:exactMatch UMLS:C1414993 Unspecified GATA2 +OMIM:137295 skos:exactMatch HGNC:4171 Unspecified GATA2 +OMIM:561010 skos:exactMatch HGNC:7471 Unspecified MTRNR2 +OMIM:561010 skos:exactMatch HGNC_symbol:MT-RNR2 Unspecified MTRNR2 +OMIM:561010 skos:exactMatch UMLS:C1537997 Unspecified MTRNR2 +OMIM:609530 skos:exactMatch HGNC:16854 Unspecified RAPGEF2 +OMIM:609530 skos:exactMatch HGNC_symbol:RAPGEF2 Unspecified RAPGEF2 +OMIM:609530 skos:exactMatch UMLS:C1424595 Unspecified RAPGEF2 +OMIM:609537 skos:exactMatch UMLS:C1836022 Unspecified lipomyelomeningocele +OMIM:137290 skos:exactMatch HGNC:11530 Unspecified TACSTD2 +OMIM:137290 skos:exactMatch UMLS:C0920274 Unspecified TACSTD2 +OMIM:137290 skos:exactMatch HGNC_symbol:TACSTD2 Unspecified TACSTD2 +OMIM:609536 skos:exactMatch UMLS:C0343047 Unspecified complement component 5 deficiency +OMIM:609535 skos:exactMatch UMLS:C4225437 Unspecified drug metabolism, poor, cyp2c19-related +OMIM:609535 skos:exactMatch UMLS:C2674941 Unspecified drug metabolism, poor, cyp2c19-related +OMIM:609535 skos:exactMatch UMLS:C1836024 Unspecified drug metabolism, poor, cyp2c19-related +OMIM:609535 skos:exactMatch UMLS:C1836023 Unspecified drug metabolism, poor, cyp2c19-related +OMIM:609535 skos:exactMatch UMLS:C1836026 Unspecified drug metabolism, poor, cyp2c19-related +OMIM:609534 skos:exactMatch UMLS:C1708025 Unspecified ATAD5 +OMIM:609534 skos:exactMatch HGNC:25752 Unspecified ATAD5 +OMIM:609534 skos:exactMatch HGNC_symbol:ATAD5 Unspecified ATAD5 +OMIM:609519 skos:exactMatch HGNC:13630 Unspecified TFPT +OMIM:609519 skos:exactMatch UMLS:C1422118 Unspecified TFPT +OMIM:609519 skos:exactMatch UMLS:C1840249 Unspecified TFPT +OMIM:609519 skos:exactMatch HGNC_symbol:TFPT Unspecified TFPT +OMIM:610508 skos:exactMatch UMLS:C1864839 Unspecified maturity-onset diabetes of the young, iia 7 +OMIM:609518 skos:exactMatch HGNC:23190 Unspecified THAP7 +OMIM:609518 skos:exactMatch HGNC_symbol:THAP7 Unspecified THAP7 +OMIM:609518 skos:exactMatch UMLS:C1427976 Unspecified THAP7 +OMIM:610507 skos:exactMatch UMLS:C1825809 Unspecified LEO1 +OMIM:610507 skos:exactMatch HGNC_symbol:LEO1 Unspecified LEO1 +OMIM:610507 skos:exactMatch HGNC:30401 Unspecified LEO1 +OMIM:609517 skos:exactMatch UMLS:C1420730 Unspecified TIAF1 +OMIM:609517 skos:exactMatch HGNC_symbol:MYO18A Unspecified TIAF1 +OMIM:609517 skos:exactMatch HGNC:31104 Unspecified TIAF1 +OMIM:610509 skos:exactMatch UMLS:C1826827 Unspecified RIC3 +OMIM:610509 skos:exactMatch HGNC:30338 Unspecified RIC3 +OMIM:610509 skos:exactMatch HGNC_symbol:RIC3 Unspecified RIC3 +OMIM:609516 skos:exactMatch UMLS:C1424956 Unspecified ZNF382 +OMIM:609516 skos:exactMatch HGNC_symbol:ZNF382 Unspecified ZNF382 +OMIM:609516 skos:exactMatch HGNC:17409 Unspecified ZNF382 +OMIM:188840 skos:exactMatch HGNC_symbol:TTN Unspecified TTN +OMIM:188840 skos:exactMatch HGNC:12403 Unspecified TTN +OMIM:188840 skos:exactMatch UMLS:C1421222 Unspecified TTN +OMIM:610504 skos:exactMatch UMLS:C0729264 Unspecified preterm premature rupture of the membranes +OMIM:610503 skos:exactMatch HGNC:13234 Unspecified CDIP1 +OMIM:610503 skos:exactMatch UMLS:C1539059 Unspecified CDIP1 +OMIM:610503 skos:exactMatch HGNC_symbol:CDIP1 Unspecified CDIP1 +OMIM:610506 skos:exactMatch UMLS:C1826536 Unspecified PAF1 +OMIM:610506 skos:exactMatch HGNC_symbol:PAF1 Unspecified PAF1 +OMIM:610506 skos:exactMatch HGNC:25459 Unspecified PAF1 +OMIM:610505 skos:exactMatch UMLS:C1864840 Unspecified combined oxidative phosphorylation deficiency 3 +OMIM:610500 skos:exactMatch HGNC_symbol:ANKHD1 Unspecified ANKHD1 +OMIM:610500 skos:exactMatch UMLS:C1538279 Unspecified ANKHD1 +OMIM:610500 skos:exactMatch HGNC:24714 Unspecified ANKHD1 +OMIM:260660 skos:exactMatch UMLS:C1850040 Unspecified cousin syndrome +OMIM:610502 skos:exactMatch HGNC:18647 Unspecified RTN4IP1 +OMIM:610502 skos:exactMatch HGNC_symbol:RTN4IP1 Unspecified RTN4IP1 +OMIM:610502 skos:exactMatch UMLS:C1425674 Unspecified RTN4IP1 +OMIM:162230 skos:exactMatch HGNC:7737 Unspecified NEFH +OMIM:162230 skos:exactMatch UMLS:C1417666 Unspecified NEFH +OMIM:162230 skos:exactMatch HGNC_symbol:NEFH Unspecified NEFH +OMIM:259690 skos:exactMatch UMLS:C1850140 Unspecified osteopenia and sparse hair +OMIM:610501 skos:exactMatch HGNC_symbol:NBPF1 Unspecified NBPF1 +OMIM:610501 skos:exactMatch HGNC:26088 Unspecified NBPF1 +OMIM:610501 skos:exactMatch UMLS:C1826359 Unspecified NBPF1 +OMIM:176877 skos:exactMatch UMLS:C1419105 Unspecified PTPN3 +OMIM:176877 skos:exactMatch HGNC_symbol:PTPN3 Unspecified PTPN3 +OMIM:176877 skos:exactMatch HGNC:9655 Unspecified PTPN3 +OMIM:176876 skos:exactMatch UMLS:C4551484 Unspecified PTPN11 +OMIM:176876 skos:exactMatch UMLS:C0028326 Unspecified PTPN11 +OMIM:176876 skos:exactMatch UMLS:C4551602 Unspecified PTPN11 +OMIM:176876 skos:exactMatch HGNC_symbol:PTPN11 Unspecified PTPN11 +OMIM:176876 skos:exactMatch UMLS:C4016288 Unspecified PTPN11 +OMIM:176876 skos:exactMatch UMLS:C0410530 Unspecified PTPN11 +OMIM:176876 skos:exactMatch HGNC:9644 Unspecified PTPN11 +OMIM:176876 skos:exactMatch UMLS:C1335280 Unspecified PTPN11 +OMIM:176879 skos:exactMatch HGNC:9657 Unspecified PTPN5 +OMIM:176879 skos:exactMatch UMLS:C1419107 Unspecified PTPN5 +OMIM:176879 skos:exactMatch HGNC_symbol:PTPN5 Unspecified PTPN5 +OMIM:176878 skos:exactMatch UMLS:C1419106 Unspecified PTPN4 +OMIM:176878 skos:exactMatch HGNC_symbol:PTPN4 Unspecified PTPN4 +OMIM:176878 skos:exactMatch HGNC:9656 Unspecified PTPN4 +OMIM:176873 skos:exactMatch UMLS:C1332720 Unspecified CDK11B +OMIM:176873 skos:exactMatch HGNC:1729 Unspecified CDK11B +OMIM:176873 skos:exactMatch HGNC_symbol:CDK11B Unspecified CDK11B +OMIM:176872 skos:exactMatch UMLS:C5394559 Unspecified MAP2K1 +OMIM:176872 skos:exactMatch HGNC:6840 Unspecified MAP2K1 +OMIM:176872 skos:exactMatch HGNC_symbol:MAP2K1 Unspecified MAP2K1 +OMIM:176872 skos:exactMatch UMLS:C3809006 Unspecified MAP2K1 +OMIM:176872 skos:exactMatch UMLS:C1334474 Unspecified MAP2K1 +OMIM:176875 skos:exactMatch HGNC_symbol:PPP1CA Unspecified PPP1CA +OMIM:176875 skos:exactMatch HGNC:9281 Unspecified PPP1CA +OMIM:176875 skos:exactMatch UMLS:C1335240 Unspecified PPP1CA +OMIM:609522 skos:exactMatch UMLS:C1428998 Unspecified ELOA2 +OMIM:609522 skos:exactMatch HGNC_symbol:ELOA2 Unspecified ELOA2 +OMIM:609522 skos:exactMatch HGNC:30771 Unspecified ELOA2 +OMIM:609521 skos:exactMatch UMLS:C1420178 Unspecified SLC30A1 +OMIM:609521 skos:exactMatch HGNC_symbol:SLC30A1 Unspecified SLC30A1 +OMIM:609521 skos:exactMatch HGNC:11012 Unspecified SLC30A1 +OMIM:176871 skos:exactMatch UMLS:C5394367 Unspecified EIF2AK2 +OMIM:176871 skos:exactMatch UMLS:C1539341 Unspecified EIF2AK2 +OMIM:176871 skos:exactMatch HGNC_symbol:EIF2AK2 Unspecified EIF2AK2 +OMIM:176871 skos:exactMatch HGNC:9437 Unspecified EIF2AK2 +OMIM:245050 skos:exactMatch ORPHA:832 Unspecified succinyl-coa:3-oxoacid-coa transferase deficiency +OMIM:245050 skos:exactMatch UMLS:C0342792 Unspecified succinyl-coa:3-oxoacid-coa transferase deficiency +OMIM:561000 skos:exactMatch HGNC:7470 Unspecified MTRNR1 +OMIM:561000 skos:exactMatch HGNC_symbol:MT-RNR1 Unspecified MTRNR1 +OMIM:561000 skos:exactMatch UMLS:C1537996 Unspecified MTRNR1 +OMIM:609520 skos:exactMatch HGNC_symbol:THAP1 Unspecified THAP1 +OMIM:609520 skos:exactMatch UMLS:C1427163 Unspecified THAP1 +OMIM:609520 skos:exactMatch HGNC:20856 Unspecified THAP1 +OMIM:150260 skos:exactMatch UMLS:C0396059 Unspecified laryngeal abductor paralysis +OMIM:176870 skos:exactMatch HGNC_symbol:AMBP Unspecified AMBP +OMIM:176870 skos:exactMatch HGNC:453 Unspecified AMBP +OMIM:176870 skos:exactMatch UMLS:C0077906 Unspecified AMBP +OMIM:176870 skos:exactMatch UMLS:C1412376 Unspecified AMBP +OMIM:609526 skos:exactMatch HGNC_symbol:PLEKHG4 Unspecified PLEKHG4 +OMIM:609526 skos:exactMatch HGNC:24501 Unspecified PLEKHG4 +OMIM:609526 skos:exactMatch UMLS:C1538675 Unspecified PLEKHG4 +OMIM:609525 skos:exactMatch HGNC:25856 Unspecified METTL8 +OMIM:609525 skos:exactMatch UMLS:C1825978 Unspecified METTL8 +OMIM:609525 skos:exactMatch HGNC_symbol:METTL8 Unspecified METTL8 +OMIM:609524 skos:exactMatch UMLS:C1836050 Unspecified myopathy, myofibrillar, 5 +OMIM:609523 skos:exactMatch HGNC_symbol:ALDH3A2 Unspecified ALDH3A2 +OMIM:609523 skos:exactMatch HGNC:403 Unspecified ALDH3A2 +OMIM:609523 skos:exactMatch UMLS:C1412334 Unspecified ALDH3A2 +OMIM:245010 skos:exactMatch UMLS:C1855627 Unspecified haim-munk syndrome +OMIM:610577 skos:exactMatch HGNC:16348 Unspecified ARHGAP12 +OMIM:610577 skos:exactMatch HGNC_symbol:ARHGAP12 Unspecified ARHGAP12 +OMIM:610577 skos:exactMatch UMLS:C1424207 Unspecified ARHGAP12 +OMIM:259660 skos:exactMatch UMLS:C1850141 Unspecified +OMIM:610576 skos:exactMatch UMLS:C1422424 Unspecified ARHGAP9 +OMIM:610576 skos:exactMatch HGNC_symbol:ARHGAP9 Unspecified ARHGAP9 +OMIM:610576 skos:exactMatch HGNC:14130 Unspecified ARHGAP9 +OMIM:162260 skos:exactMatch UMLS:C2931480 Unspecified neurofibromatosis, iia iii, mixed central and peripheral +OMIM:162260 skos:exactMatch UMLS:C1834231 Unspecified neurofibromatosis, iia iii, mixed central and peripheral +OMIM:610579 skos:exactMatch UMLS:C1826789 Unspecified RCSD1 +OMIM:610579 skos:exactMatch HGNC:28310 Unspecified RCSD1 +OMIM:610579 skos:exactMatch HGNC_symbol:RCSD1 Unspecified RCSD1 +OMIM:610578 skos:exactMatch HGNC:21030 Unspecified ARHGAP15 +OMIM:610578 skos:exactMatch UMLS:C1427256 Unspecified ARHGAP15 +OMIM:610578 skos:exactMatch HGNC_symbol:ARHGAP15 Unspecified ARHGAP15 +OMIM:260650 skos:exactMatch UMLS:C1850052 Unspecified pellagra-like syndrome +OMIM:610573 skos:exactMatch UMLS:C1826946 Unspecified RSPO4 +OMIM:610573 skos:exactMatch HGNC:16175 Unspecified RSPO4 +OMIM:610573 skos:exactMatch HGNC_symbol:RSPO4 Unspecified RSPO4 +OMIM:610572 skos:exactMatch UMLS:C1537667 Unspecified MARVELD2 +OMIM:610572 skos:exactMatch HGNC_symbol:MARVELD2 Unspecified MARVELD2 +OMIM:610572 skos:exactMatch HGNC:26401 Unspecified MARVELD2 +OMIM:610575 skos:exactMatch UMLS:C1826945 Unspecified RSPO2 +OMIM:610575 skos:exactMatch HGNC:28583 Unspecified RSPO2 +OMIM:610575 skos:exactMatch HGNC_symbol:RSPO2 Unspecified RSPO2 +OMIM:610574 skos:exactMatch UMLS:C1704989 Unspecified RSPO3 +OMIM:610574 skos:exactMatch HGNC:20866 Unspecified RSPO3 +OMIM:610574 skos:exactMatch HGNC_symbol:RSPO3 Unspecified RSPO3 +OMIM:188890 skos:exactMatch UMLS:C1861063 Unspecified tobacco addiction, susceptibility to +OMIM:609591 skos:exactMatch UMLS:C1419390 Unspecified RIT1 +OMIM:609591 skos:exactMatch HGNC:10023 Unspecified RIT1 +OMIM:609591 skos:exactMatch HGNC_symbol:RIT1 Unspecified RIT1 +OMIM:610580 skos:exactMatch UMLS:C1538648 Unspecified PIM3 +OMIM:610580 skos:exactMatch HGNC_symbol:PIM3 Unspecified PIM3 +OMIM:610580 skos:exactMatch HGNC:19310 Unspecified PIM3 +OMIM:609590 skos:exactMatch HGNC:21100 Unspecified QKI +OMIM:609590 skos:exactMatch UMLS:C1427319 Unspecified QKI +OMIM:609590 skos:exactMatch HGNC_symbol:QKI Unspecified QKI +OMIM:610582 skos:exactMatch UMLS:C1864623 Unspecified diabetes mellitus, transient neonatal, 3 +OMIM:610582 skos:exactMatch ORPHA:99886 Unspecified diabetes mellitus, transient neonatal, 3 +OMIM:610581 skos:exactMatch HGNC:2238 Unspecified COPG2IT1 +OMIM:610581 skos:exactMatch HGNC_symbol:COPG2IT1 Unspecified COPG2IT1 +OMIM:610581 skos:exactMatch UMLS:C1413612 Unspecified COPG2IT1 +OMIM:609595 skos:exactMatch UMLS:C1826944 Unspecified RSPO1 +OMIM:609595 skos:exactMatch HGNC:21679 Unspecified RSPO1 +OMIM:609595 skos:exactMatch HGNC_symbol:RSPO1 Unspecified RSPO1 +OMIM:609594 skos:exactMatch HGNC:25735 Unspecified VEPH1 +OMIM:609594 skos:exactMatch UMLS:C1540179 Unspecified VEPH1 +OMIM:609594 skos:exactMatch HGNC_symbol:VEPH1 Unspecified VEPH1 +OMIM:609593 skos:exactMatch HGNC:21581 Unspecified CARMIL1 +OMIM:609593 skos:exactMatch UMLS:C1427628 Unspecified CARMIL1 +OMIM:609593 skos:exactMatch HGNC_symbol:CARMIL1 Unspecified CARMIL1 +OMIM:609592 skos:exactMatch UMLS:C1419388 Unspecified RIT2 +OMIM:609592 skos:exactMatch HGNC:10017 Unspecified RIT2 +OMIM:609592 skos:exactMatch HGNC_symbol:RIT2 Unspecified RIT2 +OMIM:259650 skos:exactMatch UMLS:C1850142 Unspecified osteoma of middle ear +OMIM:609599 skos:exactMatch HGNC:15819 Unspecified ANKRD1 +OMIM:609599 skos:exactMatch HGNC_symbol:ANKRD1 Unspecified ANKRD1 +OMIM:609599 skos:exactMatch UMLS:C1423753 Unspecified ANKRD1 +OMIM:609598 skos:exactMatch HGNC:15935 Unspecified ZHX3 +OMIM:609598 skos:exactMatch HGNC_symbol:ZHX3 Unspecified ZHX3 +OMIM:609598 skos:exactMatch UMLS:C1423843 Unspecified ZHX3 +OMIM:609597 skos:exactMatch ORPHA:60015 Unspecified parietal foramina 2 +OMIM:609597 skos:exactMatch UMLS:C1865044 Unspecified parietal foramina 2 +OMIM:150270 skos:exactMatch UMLS:C0396060 Unspecified laryngeal adductor paralysis +OMIM:609596 skos:exactMatch UMLS:C1539345 Unspecified EIF3K +OMIM:609596 skos:exactMatch HGNC:24656 Unspecified EIF3K +OMIM:609596 skos:exactMatch HGNC_symbol:EIF3K Unspecified EIF3K +OMIM:208081 skos:exactMatch UMLS:C1859723 Unspecified arthrogryposis, distal, with mental retardation and characteristic facies +OMIM:610569 skos:exactMatch HGNC:12623 Unspecified USP24 +OMIM:610569 skos:exactMatch UMLS:C1421401 Unspecified USP24 +OMIM:610569 skos:exactMatch HGNC_symbol:USP24 Unspecified USP24 +OMIM:610566 skos:exactMatch UMLS:C1826002 Unspecified MIR146A +OMIM:610566 skos:exactMatch HGNC_symbol:MIR146A Unspecified MIR146A +OMIM:610566 skos:exactMatch HGNC:31533 Unspecified MIR146A +OMIM:208085 skos:exactMatch UMLS:C1859722 Unspecified arthrogryposis, renal dysfunction, and cholestasis 1 +OMIM:208085 skos:exactMatch UMLS:C4551984 Unspecified arthrogryposis, renal dysfunction, and cholestasis 1 +OMIM:162250 skos:exactMatch UMLS:C1826396 Unspecified NEFM +OMIM:162250 skos:exactMatch HGNC_symbol:NEFM Unspecified NEFM +OMIM:162250 skos:exactMatch HGNC:7734 Unspecified NEFM +OMIM:610565 skos:exactMatch UMLS:C1414106 Unspecified DNAL4 +OMIM:610565 skos:exactMatch HGNC:2955 Unspecified DNAL4 +OMIM:610565 skos:exactMatch HGNC_symbol:DNAL4 Unspecified DNAL4 +OMIM:610568 skos:exactMatch HGNC:29277 Unspecified ZNF687 +OMIM:610568 skos:exactMatch HGNC_symbol:ZNF687 Unspecified ZNF687 +OMIM:610568 skos:exactMatch UMLS:C1823988 Unspecified ZNF687 +OMIM:610568 skos:exactMatch UMLS:C1864633 Unspecified ZNF687 +OMIM:610567 skos:exactMatch UMLS:C1826003 Unspecified MIR146B +OMIM:610567 skos:exactMatch HGNC_symbol:MIR146B Unspecified MIR146B +OMIM:610567 skos:exactMatch HGNC:32079 Unspecified MIR146B +OMIM:610562 skos:exactMatch HGNC_symbol:ZC3H12A Unspecified ZC3H12A +OMIM:610562 skos:exactMatch UMLS:C1823924 Unspecified ZC3H12A +OMIM:610562 skos:exactMatch HGNC:26259 Unspecified ZC3H12A +OMIM:610561 skos:exactMatch HGNC:34407 Unspecified PRSS53 +OMIM:610561 skos:exactMatch UMLS:C1864636 Unspecified PRSS53 +OMIM:610561 skos:exactMatch HGNC_symbol:PRSS53 Unspecified PRSS53 +OMIM:610564 skos:exactMatch HGNC_symbol:PDSS2 Unspecified PDSS2 +OMIM:610564 skos:exactMatch HGNC:23041 Unspecified PDSS2 +OMIM:610564 skos:exactMatch UMLS:C1826561 Unspecified PDSS2 +OMIM:610563 skos:exactMatch UMLS:C1416704 Unspecified KPNA6 +OMIM:610563 skos:exactMatch HGNC:6399 Unspecified KPNA6 +OMIM:610563 skos:exactMatch HGNC_symbol:KPNA6 Unspecified KPNA6 +OMIM:609580 skos:exactMatch HGNC_symbol:NINL Unspecified NINL +OMIM:609580 skos:exactMatch UMLS:C1865069 Unspecified NINL +OMIM:609580 skos:exactMatch HGNC:29163 Unspecified NINL +OMIM:610571 skos:exactMatch HGNC:18624 Unspecified FKBP11 +OMIM:610571 skos:exactMatch UMLS:C1425656 Unspecified FKBP11 +OMIM:610571 skos:exactMatch HGNC_symbol:FKBP11 Unspecified FKBP11 +OMIM:610570 skos:exactMatch HGNC:20069 Unspecified USP40 +OMIM:610570 skos:exactMatch HGNC_symbol:USP40 Unspecified USP40 +OMIM:610570 skos:exactMatch UMLS:C1426657 Unspecified USP40 +OMIM:176895 skos:exactMatch UMLS:C1418952 Unspecified PROZ +OMIM:176895 skos:exactMatch HGNC_symbol:PROZ Unspecified PROZ +OMIM:176895 skos:exactMatch HGNC:9460 Unspecified PROZ +OMIM:609584 skos:exactMatch UMLS:C1825784 Unspecified L2HGDH +OMIM:609584 skos:exactMatch HGNC:20499 Unspecified L2HGDH +OMIM:609584 skos:exactMatch HGNC_symbol:L2HGDH Unspecified L2HGDH +OMIM:176894 skos:exactMatch HGNC_symbol:PRKG1 Unspecified PRKG1 +OMIM:176894 skos:exactMatch UMLS:C1418929 Unspecified PRKG1 +OMIM:176894 skos:exactMatch HGNC:9414 Unspecified PRKG1 +OMIM:609583 skos:exactMatch UMLS:C1846790 Unspecified joubert syndrome 4 +OMIM:609582 skos:exactMatch HGNC_symbol:MIR122 Unspecified MIR122A +OMIM:609582 skos:exactMatch UMLS:C1865068 Unspecified MIR122A +OMIM:609582 skos:exactMatch HGNC:31501 Unspecified MIR122A +OMIM:257000 skos:exactMatch UMLS:C1850382 Unspecified neurovisceral storage disease with curvilinear bodies +OMIM:609588 skos:exactMatch UMLS:C4225178 Unspecified GLRX5 +OMIM:609588 skos:exactMatch UMLS:C4225507 Unspecified GLRX5 +OMIM:609588 skos:exactMatch UMLS:C1825372 Unspecified GLRX5 +OMIM:609588 skos:exactMatch HGNC_symbol:GLRX5 Unspecified GLRX5 +OMIM:609588 skos:exactMatch HGNC:20134 Unspecified GLRX5 +OMIM:176891 skos:exactMatch HGNC:9685 Unspecified PTPRZ1 +OMIM:176891 skos:exactMatch UMLS:C1419126 Unspecified PTPRZ1 +OMIM:176891 skos:exactMatch HGNC_symbol:PTPRZ1 Unspecified PTPRZ1 +OMIM:609587 skos:exactMatch HGNC_symbol:RCC2 Unspecified RCC2 +OMIM:609587 skos:exactMatch HGNC:30297 Unspecified RCC2 +OMIM:609587 skos:exactMatch UMLS:C1826787 Unspecified RCC2 +OMIM:176893 skos:exactMatch UMLS:C1418903 Unspecified PRKACG +OMIM:176893 skos:exactMatch HGNC_symbol:PRKACG Unspecified PRKACG +OMIM:176893 skos:exactMatch HGNC:9382 Unspecified PRKACG +OMIM:609586 skos:exactMatch HGNC:24330 Unspecified CPLX4 +OMIM:609586 skos:exactMatch UMLS:C1428370 Unspecified CPLX4 +OMIM:609586 skos:exactMatch HGNC_symbol:CPLX4 Unspecified CPLX4 +OMIM:176892 skos:exactMatch UMLS:C1418902 Unspecified PRKACB +OMIM:176892 skos:exactMatch UMLS:C5436886 Unspecified PRKACB +OMIM:176892 skos:exactMatch HGNC_symbol:PRKACB Unspecified PRKACB +OMIM:176892 skos:exactMatch HGNC:9381 Unspecified PRKACB +OMIM:609585 skos:exactMatch HGNC:27652 Unspecified CPLX3 +OMIM:609585 skos:exactMatch HGNC_symbol:CPLX3 Unspecified CPLX3 +OMIM:609585 skos:exactMatch UMLS:C1824784 Unspecified CPLX3 +OMIM:272620 skos:exactMatch UMLS:C0686347 Unspecified tardive dyskinesia +OMIM:150280 skos:exactMatch UMLS:C0264303 Unspecified laryngomalacia +OMIM:609589 skos:exactMatch HGNC_symbol:MTUS1 Unspecified MTUS1 +OMIM:609589 skos:exactMatch UMLS:C1428889 Unspecified MTUS1 +OMIM:609589 skos:exactMatch HGNC:29789 Unspecified MTUS1 +OMIM:610559 skos:exactMatch UMLS:C1427128 Unspecified RASSF4 +OMIM:610559 skos:exactMatch HGNC_symbol:RASSF4 Unspecified RASSF4 +OMIM:610559 skos:exactMatch HGNC:20793 Unspecified RASSF4 +OMIM:610558 skos:exactMatch UMLS:C1425758 Unspecified MAPKAP1 +OMIM:610558 skos:exactMatch HGNC:18752 Unspecified MAPKAP1 +OMIM:610558 skos:exactMatch HGNC_symbol:MAPKAP1 Unspecified MAPKAP1 +OMIM:610555 skos:exactMatch HGNC:24337 Unspecified C1GALT1 +OMIM:610555 skos:exactMatch UMLS:C1538973 Unspecified C1GALT1 +OMIM:610555 skos:exactMatch HGNC_symbol:C1GALT1 Unspecified C1GALT1 +OMIM:610554 skos:exactMatch HGNC:26941 Unspecified UFC1 +OMIM:610554 skos:exactMatch HGNC_symbol:UFC1 Unspecified UFC1 +OMIM:610554 skos:exactMatch UMLS:C1823590 Unspecified UFC1 +OMIM:247650 skos:exactMatch UMLS:C1855471 Unspecified lymphokine deficiency +OMIM:610557 skos:exactMatch HGNC_symbol:HAR1B Unspecified HAR1B +OMIM:610557 skos:exactMatch UMLS:C1825448 Unspecified HAR1B +OMIM:610557 skos:exactMatch HGNC:33118 Unspecified HAR1B +OMIM:610556 skos:exactMatch HGNC_symbol:HAR1A Unspecified HAR1A +OMIM:610556 skos:exactMatch UMLS:C1825447 Unspecified HAR1A +OMIM:610556 skos:exactMatch HGNC:33117 Unspecified HAR1A +OMIM:610551 skos:exactMatch UMLS:C2750180 Unspecified encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 +OMIM:610550 skos:exactMatch HGNC:6903 Unspecified MAT1A +OMIM:610550 skos:exactMatch UMLS:C1417038 Unspecified MAT1A +OMIM:610550 skos:exactMatch HGNC_symbol:MAT1A Unspecified MAT1A +OMIM:610553 skos:exactMatch HGNC_symbol:UFM1 Unspecified UFM1 +OMIM:610553 skos:exactMatch HGNC:20597 Unspecified UFM1 +OMIM:610553 skos:exactMatch UMLS:C1823591 Unspecified UFM1 +OMIM:162280 skos:exactMatch HGNC:7739 Unspecified NEFL +OMIM:162280 skos:exactMatch HGNC_symbol:NEFL Unspecified NEFL +OMIM:162280 skos:exactMatch UMLS:C1417668 Unspecified NEFL +OMIM:610552 skos:exactMatch UMLS:C4310700 Unspecified UBA5 +OMIM:610552 skos:exactMatch UMLS:C4310699 Unspecified UBA5 +OMIM:610552 skos:exactMatch HGNC:23230 Unspecified UBA5 +OMIM:610552 skos:exactMatch HGNC_symbol:UBA5 Unspecified UBA5 +OMIM:610552 skos:exactMatch UMLS:C1428004 Unspecified UBA5 +OMIM:610560 skos:exactMatch UMLS:C1538731 Unspecified PRSS36 +OMIM:610560 skos:exactMatch HGNC:26906 Unspecified PRSS36 +OMIM:610560 skos:exactMatch HGNC_symbol:PRSS36 Unspecified PRSS36 +OMIM:609573 skos:exactMatch UMLS:C1835966 Unspecified photoparoxysmal response 3 +OMIM:609572 skos:exactMatch UMLS:C1835967 Unspecified photoparoxysmal response 2 +OMIM:609571 skos:exactMatch HGNC:24750 Unspecified ZNF699 +OMIM:609571 skos:exactMatch HGNC_symbol:ZNF699 Unspecified ZNF699 +OMIM:609571 skos:exactMatch UMLS:C1823998 Unspecified ZNF699 +OMIM:609570 skos:exactMatch UMLS:C1835968 Unspecified migraine with or without aura, susceptibility to, 8 +OMIM:609577 skos:exactMatch HGNC_symbol:CUL7 Unspecified CUL7 +OMIM:609577 skos:exactMatch HGNC:21024 Unspecified CUL7 +OMIM:609577 skos:exactMatch UMLS:C1427252 Unspecified CUL7 +OMIM:609576 skos:exactMatch HGNC:88 Unspecified ACADL +OMIM:609576 skos:exactMatch HGNC_symbol:ACADL Unspecified ACADL +OMIM:609576 skos:exactMatch UMLS:C1439272 Unspecified ACADL +OMIM:150292 skos:exactMatch UMLS:C1416786 Unspecified LAMC2 +OMIM:150292 skos:exactMatch HGNC:6493 Unspecified LAMC2 +OMIM:150292 skos:exactMatch HGNC_symbol:LAMC2 Unspecified LAMC2 +OMIM:609575 skos:exactMatch HGNC:92 Unspecified ACADVL +OMIM:609575 skos:exactMatch UMLS:C1412110 Unspecified ACADVL +OMIM:609575 skos:exactMatch HGNC_symbol:ACADVL Unspecified ACADVL +OMIM:609574 skos:exactMatch UMLS:C1425673 Unspecified HSD17B12 +OMIM:609574 skos:exactMatch HGNC_symbol:HSD17B12 Unspecified HSD17B12 +OMIM:609574 skos:exactMatch HGNC:18646 Unspecified HSD17B12 +OMIM:150290 skos:exactMatch UMLS:C1416785 Unspecified LAMC1 +OMIM:150290 skos:exactMatch HGNC:6492 Unspecified LAMC1 +OMIM:150290 skos:exactMatch HGNC_symbol:LAMC1 Unspecified LAMC1 +OMIM:609579 skos:exactMatch UMLS:C1865070 Unspecified scaphocephaly, maxillary retrusion, and mental retardation +OMIM:609578 skos:exactMatch UMLS:C1865071 Unspecified cardiomyopathy, familial restrictive, 2 +OMIM:610548 skos:exactMatch UMLS:C1538916 Unspecified AQR +OMIM:610548 skos:exactMatch HGNC_symbol:AQR Unspecified AQR +OMIM:610548 skos:exactMatch HGNC:29513 Unspecified AQR +OMIM:245000 skos:exactMatch UMLS:C0030360 Unspecified papillon-lefevre syndrome +OMIM:610547 skos:exactMatch HGNC:32931 Unspecified IGFL4 +OMIM:610547 skos:exactMatch HGNC_symbol:IGFL4 Unspecified IGFL4 +OMIM:610547 skos:exactMatch UMLS:C1825584 Unspecified IGFL4 +OMIM:610549 skos:exactMatch UMLS:C0342278 Unspecified diabetes mellitus, insulin-resistant, with acanthosis nigricans +OMIM:610544 skos:exactMatch HGNC:24093 Unspecified IGFL1 +OMIM:610544 skos:exactMatch HGNC_symbol:IGFL1 Unspecified IGFL1 +OMIM:610544 skos:exactMatch UMLS:C1825579 Unspecified IGFL1 +OMIM:610543 skos:exactMatch UMLS:C1864648 Unspecified chromosome 16p13.3 deletion syndrome, proximal +OMIM:610546 skos:exactMatch HGNC:32930 Unspecified IGFL3 +OMIM:610546 skos:exactMatch HGNC_symbol:IGFL3 Unspecified IGFL3 +OMIM:610546 skos:exactMatch UMLS:C1825583 Unspecified IGFL3 +OMIM:610545 skos:exactMatch HGNC:32929 Unspecified IGFL2 +OMIM:610545 skos:exactMatch HGNC_symbol:IGFL2 Unspecified IGFL2 +OMIM:610545 skos:exactMatch UMLS:C1825582 Unspecified IGFL2 +OMIM:610540 skos:exactMatch HGNC_symbol:GNAS-AS1 Unspecified GNASAS1 +OMIM:610540 skos:exactMatch HGNC:24872 Unspecified GNASAS1 +OMIM:610540 skos:exactMatch UMLS:C1864650 Unspecified GNASAS1 +OMIM:162270 skos:exactMatch UMLS:C0220695 Unspecified neurofibromatosis, iia iv, of riccardi +OMIM:610542 skos:exactMatch UMLS:C3552335 Unspecified myasthenic syndrome, congenital, 12 +OMIM:610541 skos:exactMatch HGNC:14942 Unspecified PPP1R3B +OMIM:610541 skos:exactMatch UMLS:C1423073 Unspecified PPP1R3B +OMIM:610541 skos:exactMatch HGNC_symbol:PPP1R3B Unspecified PPP1R3B +OMIM:609562 skos:exactMatch HGNC_symbol:CPA6 Unspecified CPA6 +OMIM:609562 skos:exactMatch UMLS:C1424851 Unspecified CPA6 +OMIM:609562 skos:exactMatch HGNC:17245 Unspecified CPA6 +OMIM:609561 skos:exactMatch HGNC:15722 Unspecified CPA5 +OMIM:609561 skos:exactMatch HGNC_symbol:CPA5 Unspecified CPA5 +OMIM:609561 skos:exactMatch UMLS:C1423685 Unspecified CPA5 +OMIM:609560 skos:exactMatch UMLS:C3149750 Unspecified mitochondrial DNA depletion syndrome 2 (myopathic type) +OMIM:609566 skos:exactMatch UMLS:C1835980 Unspecified parietal foramina 3 +OMIM:609565 skos:exactMatch HGNC:27291 Unspecified None +OMIM:609565 skos:exactMatch HGNC_symbol:MCEMP1 Unspecified None +OMIM:609565 skos:exactMatch UMLS:C1824500 Unspecified None +OMIM:609564 skos:exactMatch HGNC_symbol:PARP10 Unspecified PARP10 +OMIM:609564 skos:exactMatch HGNC:25895 Unspecified PARP10 +OMIM:609564 skos:exactMatch UMLS:C1538587 Unspecified PARP10 +OMIM:609563 skos:exactMatch HGNC:21011 Unspecified CPO +OMIM:609563 skos:exactMatch UMLS:C1427240 Unspecified CPO +OMIM:609563 skos:exactMatch HGNC_symbol:CPO Unspecified CPO +OMIM:609568 skos:exactMatch HGNC_symbol:ARHGAP20 Unspecified ARHGAP20 +OMIM:609568 skos:exactMatch UMLS:C1425469 Unspecified ARHGAP20 +OMIM:609568 skos:exactMatch HGNC:18357 Unspecified ARHGAP20 +OMIM:272600 skos:exactMatch UMLS:C1848932 Unspecified tapetoretinal degeneration with ataxia +OMIM:609567 skos:exactMatch HGNC_symbol:PNPLA3 Unspecified PNPLA3 +OMIM:609567 skos:exactMatch UMLS:C1540191 Unspecified PNPLA3 +OMIM:609567 skos:exactMatch HGNC:18590 Unspecified PNPLA3 +OMIM:610499 skos:exactMatch HGNC_symbol:RAPGEF6 Unspecified RAPGEF6 +OMIM:610499 skos:exactMatch HGNC:20655 Unspecified RAPGEF6 +OMIM:610499 skos:exactMatch UMLS:C1427062 Unspecified RAPGEF6 +OMIM:247630 skos:exactMatch UMLS:C1855473 Unspecified lymphoid system deterioration, progressive +OMIM:610496 skos:exactMatch HGNC_symbol:ARHGAP29 Unspecified ARHGAP29 +OMIM:610496 skos:exactMatch HGNC:30207 Unspecified ARHGAP29 +OMIM:610496 skos:exactMatch UMLS:C1824198 Unspecified ARHGAP29 +OMIM:610495 skos:exactMatch UMLS:C2239524 Unspecified IFFO1 +OMIM:610495 skos:exactMatch HGNC:24970 Unspecified IFFO1 +OMIM:610495 skos:exactMatch HGNC_symbol:IFFO1 Unspecified IFFO1 +OMIM:610498 skos:exactMatch UMLS:C1864843 Unspecified combined oxidative phosphorylation deficiency 2 +OMIM:610497 skos:exactMatch HGNC_symbol:BABAM2 Unspecified BRE +OMIM:610497 skos:exactMatch UMLS:C1412823 Unspecified BRE +OMIM:610497 skos:exactMatch HGNC:1106 Unspecified BRE +OMIM:259610 skos:exactMatch UMLS:C1850143 Unspecified osteolysis syndrome, recessive +OMIM:610489 skos:exactMatch UMLS:C1864846 Unspecified pigmented nodular adrenocortical disease, primary, 1 +OMIM:610488 skos:exactMatch HGNC:20267 Unspecified TTC9 +OMIM:610488 skos:exactMatch UMLS:C1426823 Unspecified TTC9 +OMIM:610488 skos:exactMatch HGNC_symbol:TTC9 Unspecified TTC9 +OMIM:247640 skos:exactMatch UMLS:C1855472 Unspecified lymphoblastic leukemia, acute, with lymphomatous features +OMIM:610485 skos:exactMatch UMLS:C1416896 Unspecified LINC00312 +OMIM:610485 skos:exactMatch HGNC_symbol:LINC00312 Unspecified LINC00312 +OMIM:610485 skos:exactMatch HGNC:6662 Unspecified LINC00312 +OMIM:610484 skos:exactMatch UMLS:C1864847 Unspecified None +OMIM:610484 skos:exactMatch HGNC:30139 Unspecified None +OMIM:610484 skos:exactMatch HGNC_symbol:LZTS3 Unspecified None +OMIM:610487 skos:exactMatch UMLS:C1425320 Unspecified KHDRBS2 +OMIM:610487 skos:exactMatch HGNC_symbol:KHDRBS2 Unspecified KHDRBS2 +OMIM:610487 skos:exactMatch HGNC:18114 Unspecified KHDRBS2 +OMIM:260600 skos:exactMatch UMLS:C1850053 Unspecified leukodystrophy, hypomyelinating, 3 +OMIM:610486 skos:exactMatch HGNC:15586 Unspecified LRRC4 +OMIM:610486 skos:exactMatch UMLS:C1423596 Unspecified LRRC4 +OMIM:610486 skos:exactMatch HGNC_symbol:LRRC4 Unspecified LRRC4 +OMIM:610492 skos:exactMatch UMLS:C1822733 Unspecified SLAIN2 +OMIM:610492 skos:exactMatch HGNC_symbol:SLAIN2 Unspecified SLAIN2 +OMIM:610492 skos:exactMatch HGNC:29282 Unspecified SLAIN2 +OMIM:610491 skos:exactMatch UMLS:C1822732 Unspecified SLAIN1 +OMIM:610491 skos:exactMatch HGNC:26387 Unspecified SLAIN1 +OMIM:610491 skos:exactMatch HGNC_symbol:SLAIN1 Unspecified SLAIN1 +OMIM:610494 skos:exactMatch HGNC:30002 Unspecified DCAF6 +OMIM:610494 skos:exactMatch HGNC_symbol:DCAF6 Unspecified DCAF6 +OMIM:610494 skos:exactMatch UMLS:C1537421 Unspecified DCAF6 +OMIM:610493 skos:exactMatch HGNC:23695 Unspecified DIXDC1 +OMIM:610493 skos:exactMatch UMLS:C1428199 Unspecified DIXDC1 +OMIM:610493 skos:exactMatch HGNC_symbol:DIXDC1 Unspecified DIXDC1 +OMIM:610490 skos:exactMatch HGNC_symbol:ACP7 Unspecified None +OMIM:610490 skos:exactMatch UMLS:C1864845 Unspecified None +OMIM:610490 skos:exactMatch HGNC:33781 Unspecified None +OMIM:208050 skos:exactMatch ORPHA:3342 Unspecified arterial tortuosity syndrome +OMIM:208050 skos:exactMatch UMLS:C1859726 Unspecified arterial tortuosity syndrome +OMIM:610478 skos:exactMatch UMLS:C1864849 Unspecified retinal cone dystrophy 4 +OMIM:610477 skos:exactMatch UMLS:C1428929 Unspecified TMPRSS9 +OMIM:610477 skos:exactMatch HGNC_symbol:TMPRSS9 Unspecified TMPRSS9 +OMIM:610477 skos:exactMatch HGNC:30079 Unspecified TMPRSS9 +OMIM:610479 skos:exactMatch HGNC_symbol:SRFBP1 Unspecified SRFBP1 +OMIM:610479 skos:exactMatch HGNC:26333 Unspecified SRFBP1 +OMIM:610479 skos:exactMatch UMLS:C1539847 Unspecified SRFBP1 +OMIM:610474 skos:exactMatch UMLS:C1864852 Unspecified camptodactyly, tall stature, and hearing loss syndrome +OMIM:610473 skos:exactMatch HGNC:28985 Unspecified LPGAT1 +OMIM:610473 skos:exactMatch HGNC_symbol:LPGAT1 Unspecified LPGAT1 +OMIM:610473 skos:exactMatch UMLS:C1537584 Unspecified LPGAT1 +OMIM:247610 skos:exactMatch UMLS:C0264511 Unspecified lymphoid interstitial pneumonia +OMIM:610476 skos:exactMatch UMLS:C1864850 Unspecified arrhythmogenic right ventricular dysplasia, familial, 11 +OMIM:610476 skos:exactMatch UMLS:C4310824 Unspecified arrhythmogenic right ventricular dysplasia, familial, 11 +OMIM:610475 skos:exactMatch UMLS:C1864851 Unspecified pigmented nodular adrenocortical disease, primary, 2 +OMIM:610481 skos:exactMatch UMLS:C1822716 Unspecified SHD +OMIM:610481 skos:exactMatch HGNC_symbol:SHD Unspecified SHD +OMIM:610481 skos:exactMatch HGNC:30633 Unspecified SHD +OMIM:609492 skos:exactMatch HGNC_symbol:RASSF2 Unspecified RASSF2 +OMIM:609492 skos:exactMatch HGNC:9883 Unspecified RASSF2 +OMIM:609492 skos:exactMatch UMLS:C1419286 Unspecified RASSF2 +OMIM:609491 skos:exactMatch HGNC:17858 Unspecified GPSM1 +OMIM:609491 skos:exactMatch UMLS:C1425135 Unspecified GPSM1 +OMIM:609491 skos:exactMatch HGNC_symbol:GPSM1 Unspecified GPSM1 +OMIM:610480 skos:exactMatch UMLS:C1425741 Unspecified LEMD1 +OMIM:610480 skos:exactMatch HGNC:18725 Unspecified LEMD1 +OMIM:610480 skos:exactMatch HGNC_symbol:LEMD1 Unspecified LEMD1 +OMIM:609490 skos:exactMatch UMLS:C1836112 Unspecified None +OMIM:609490 skos:exactMatch HGNC_symbol:CARD17 Unspecified None +OMIM:609490 skos:exactMatch HGNC:33827 Unspecified None +OMIM:610483 skos:exactMatch UMLS:C1864848 Unspecified agammaglobulinemia, microcephaly, and severe dermatitis +OMIM:610482 skos:exactMatch HGNC:27004 Unspecified SHE +OMIM:610482 skos:exactMatch UMLS:C1822717 Unspecified SHE +OMIM:610482 skos:exactMatch HGNC_symbol:SHE Unspecified SHE +OMIM:609495 skos:exactMatch HGNC:19427 Unspecified GGNBP1 +OMIM:609495 skos:exactMatch HGNC_symbol:GGNBP1 Unspecified GGNBP1 +OMIM:609495 skos:exactMatch UMLS:C1836111 Unspecified GGNBP1 +OMIM:609494 skos:exactMatch HGNC_symbol:ZNF395 Unspecified ZNF395 +OMIM:609494 skos:exactMatch HGNC:18737 Unspecified ZNF395 +OMIM:609494 skos:exactMatch UMLS:C1538187 Unspecified ZNF395 +OMIM:609493 skos:exactMatch HGNC:15930 Unspecified SLC2A4RG +OMIM:609493 skos:exactMatch HGNC_symbol:SLC2A4RG Unspecified SLC2A4RG +OMIM:609493 skos:exactMatch UMLS:C1423839 Unspecified SLC2A4RG +OMIM:609499 skos:exactMatch UMLS:C1422768 Unspecified MCF2L +OMIM:609499 skos:exactMatch HGNC:14576 Unspecified MCF2L +OMIM:609499 skos:exactMatch HGNC_symbol:MCF2L Unspecified MCF2L +OMIM:609498 skos:exactMatch UMLS:C1836109 Unspecified None +OMIM:609498 skos:exactMatch HGNC_symbol:FBXO47 Unspecified None +OMIM:609498 skos:exactMatch HGNC:31969 Unspecified None +OMIM:609497 skos:exactMatch UMLS:C1836110 Unspecified ERAP2 +OMIM:609497 skos:exactMatch HGNC:29499 Unspecified ERAP2 +OMIM:609497 skos:exactMatch HGNC_symbol:ERAP2 Unspecified ERAP2 +OMIM:208060 skos:exactMatch UMLS:C1859725 Unspecified arteriosclerosis, severe juvenile +OMIM:610467 skos:exactMatch HGNC_symbol:HACD1 Unspecified HACD1 +OMIM:610467 skos:exactMatch HGNC:9639 Unspecified HACD1 +OMIM:610467 skos:exactMatch UMLS:C1419093 Unspecified HACD1 +OMIM:610466 skos:exactMatch UMLS:C1537580 Unspecified LIX1 +OMIM:610466 skos:exactMatch HGNC:18581 Unspecified LIX1 +OMIM:610466 skos:exactMatch HGNC_symbol:LIX1 Unspecified LIX1 +OMIM:610469 skos:exactMatch HGNC_symbol:AP3M2 Unspecified AP3M2 +OMIM:610469 skos:exactMatch HGNC:570 Unspecified AP3M2 +OMIM:610469 skos:exactMatch UMLS:C1412450 Unspecified AP3M2 +OMIM:610468 skos:exactMatch HGNC_symbol:IFI44 Unspecified IFI44 +OMIM:610468 skos:exactMatch HGNC:16938 Unspecified IFI44 +OMIM:610468 skos:exactMatch UMLS:C1424650 Unspecified IFI44 +OMIM:610463 skos:exactMatch HGNC:21042 Unspecified NUS1 +OMIM:610463 skos:exactMatch HGNC_symbol:NUS1 Unspecified NUS1 +OMIM:610463 skos:exactMatch UMLS:C1826501 Unspecified NUS1 +OMIM:610462 skos:exactMatch UMLS:C1427877 Unspecified RTN4RL2 +OMIM:610462 skos:exactMatch HGNC_symbol:RTN4RL2 Unspecified RTN4RL2 +OMIM:610462 skos:exactMatch HGNC:23053 Unspecified RTN4RL2 +OMIM:610465 skos:exactMatch HGNC_symbol:ACSF2 Unspecified ACSF2 +OMIM:610465 skos:exactMatch HGNC:26101 Unspecified ACSF2 +OMIM:610465 skos:exactMatch UMLS:C1864859 Unspecified ACSF2 +OMIM:610464 skos:exactMatch UMLS:C1427157 Unspecified GPR156 +OMIM:610464 skos:exactMatch HGNC:20844 Unspecified GPR156 +OMIM:610464 skos:exactMatch HGNC_symbol:GPR156 Unspecified GPR156 +OMIM:610470 skos:exactMatch HGNC_symbol:TRPT1 Unspecified TRPT1 +OMIM:610470 skos:exactMatch HGNC:20316 Unspecified TRPT1 +OMIM:610470 skos:exactMatch UMLS:C1426854 Unspecified TRPT1 +OMIM:609481 skos:exactMatch HGNC_symbol:ISL2 Unspecified ISL2 +OMIM:609481 skos:exactMatch HGNC:18524 Unspecified ISL2 +OMIM:609481 skos:exactMatch UMLS:C1425576 Unspecified ISL2 +OMIM:610472 skos:exactMatch UMLS:C1825853 Unspecified AYTL2 +OMIM:610472 skos:exactMatch HGNC:25718 Unspecified AYTL2 +OMIM:610472 skos:exactMatch HGNC_symbol:LPCAT1 Unspecified AYTL2 +OMIM:259600 skos:exactMatch ORPHA:371428 Unspecified multicentric osteolysis, nodulosis, and arthropathy +OMIM:259600 skos:exactMatch UMLS:C1850155 Unspecified multicentric osteolysis, nodulosis, and arthropathy +OMIM:610471 skos:exactMatch UMLS:C1823616 Unspecified VASH2 +OMIM:610471 skos:exactMatch HGNC:25723 Unspecified VASH2 +OMIM:610471 skos:exactMatch HGNC_symbol:VASH2 Unspecified VASH2 +OMIM:609485 skos:exactMatch HGNC_symbol:MOAP1 Unspecified MOAP1 +OMIM:609485 skos:exactMatch HGNC:16658 Unspecified MOAP1 +OMIM:609485 skos:exactMatch UMLS:C1424473 Unspecified MOAP1 +OMIM:609484 skos:exactMatch HGNC:24880 Unspecified LYPD3 +OMIM:609484 skos:exactMatch HGNC_symbol:LYPD3 Unspecified LYPD3 +OMIM:609484 skos:exactMatch UMLS:C1825918 Unspecified LYPD3 +OMIM:609483 skos:exactMatch UMLS:C1825170 Unspecified FAM84B +OMIM:609483 skos:exactMatch HGNC_symbol:LRATD2 Unspecified FAM84B +OMIM:609483 skos:exactMatch HGNC:24166 Unspecified FAM84B +OMIM:609482 skos:exactMatch UMLS:C1836117 Unspecified AGR3 +OMIM:609482 skos:exactMatch HGNC_symbol:AGR3 Unspecified AGR3 +OMIM:609482 skos:exactMatch HGNC:24167 Unspecified AGR3 +OMIM:609489 skos:exactMatch HGNC:6831 Unspecified MANBA +OMIM:609489 skos:exactMatch HGNC_symbol:MANBA Unspecified MANBA +OMIM:609489 skos:exactMatch UMLS:C1416999 Unspecified MANBA +OMIM:609488 skos:exactMatch UMLS:C1824639 Unspecified None +OMIM:609488 skos:exactMatch HGNC_symbol:CCDC110 Unspecified None +OMIM:609488 skos:exactMatch HGNC:28504 Unspecified None +OMIM:609487 skos:exactMatch HGNC:6854 Unspecified MAP3K2 +OMIM:609487 skos:exactMatch UMLS:C1417013 Unspecified MAP3K2 +OMIM:609487 skos:exactMatch HGNC_symbol:MAP3K2 Unspecified MAP3K2 +OMIM:609486 skos:exactMatch HGNC:19312 Unspecified EAPP +OMIM:609486 skos:exactMatch HGNC_symbol:EAPP Unspecified EAPP +OMIM:609486 skos:exactMatch UMLS:C1426158 Unspecified EAPP +OMIM:208000 skos:exactMatch ORPHA:51608 Unspecified arterial calcification, generalized, of infancy, 1 +OMIM:208000 skos:exactMatch UMLS:C1859727 Unspecified arterial calcification, generalized, of infancy, 1 +OMIM:208000 skos:exactMatch UMLS:C4551985 Unspecified arterial calcification, generalized, of infancy, 1 +OMIM:125290 skos:exactMatch UMLS:C1412330 Unspecified ALAS1 +OMIM:125290 skos:exactMatch HGNC_symbol:ALAS1 Unspecified ALAS1 +OMIM:125290 skos:exactMatch HGNC:396 Unspecified ALAS1 +OMIM:125280 skos:exactMatch UMLS:C0266034 Unspecified dens evaginatus +OMIM:125270 skos:exactMatch UMLS:C1439270 Unspecified ALAD +OMIM:125270 skos:exactMatch HGNC_symbol:ALAD Unspecified ALAD +OMIM:125270 skos:exactMatch HGNC:395 Unspecified ALAD +OMIM:211600 skos:exactMatch UMLS:C4551898 Unspecified cholestasis, progressive familial intrahepatic, 1 +OMIM:125265 skos:exactMatch UMLS:C1327771 Unspecified REEP5 +OMIM:125265 skos:exactMatch HGNC:30077 Unspecified REEP5 +OMIM:125265 skos:exactMatch HGNC_symbol:REEP5 Unspecified REEP5 +OMIM:125263 skos:exactMatch UMLS:C1420519 Unspecified SULT2A1 +OMIM:125263 skos:exactMatch HGNC:11458 Unspecified SULT2A1 +OMIM:125263 skos:exactMatch HGNC_symbol:SULT2A1 Unspecified SULT2A1 +OMIM:125264 skos:exactMatch HGNC_symbol:DEK Unspecified DEK +OMIM:125264 skos:exactMatch HGNC:2768 Unspecified DEK +OMIM:125264 skos:exactMatch UMLS:C1333214 Unspecified DEK +OMIM:125264 skos:exactMatch UMLS:C1861917 Unspecified DEK +OMIM:125260 skos:exactMatch UMLS:C1852265 Unspecified defective interfering particle induction, control of +OMIM:125255 skos:exactMatch HGNC_symbol:DCN Unspecified DCN +OMIM:125255 skos:exactMatch HGNC:2705 Unspecified DCN +OMIM:125255 skos:exactMatch UMLS:C1413930 Unspecified DCN +OMIM:125250 skos:exactMatch UMLS:C3276549 Unspecified optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +OMIM:125250 skos:exactMatch ORPHA:3212 Unspecified optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +OMIM:125250 skos:exactMatch ORPHA:1215 Unspecified optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +OMIM:139800 skos:exactMatch UMLS:C1841692 Unspecified hand clasping pattern +OMIM:125240 skos:exactMatch HGNC:2665 Unspecified CD55 +OMIM:125240 skos:exactMatch UMLS:C1824670 Unspecified CD55 +OMIM:125240 skos:exactMatch HGNC_symbol:CD55 Unspecified CD55 +OMIM:125230 skos:exactMatch UMLS:C1852278 Unspecified deafness-craniofacial syndrome +OMIM:125220 skos:exactMatch HGNC_symbol:DEFA1 Unspecified DEFA1 +OMIM:125220 skos:exactMatch HGNC:2761 Unspecified DEFA1 +OMIM:125220 skos:exactMatch UMLS:C1413973 Unspecified DEFA1 +OMIM:152800 skos:exactMatch UMLS:C0024215 Unspecified lymphangiectasia, intestinal +OMIM:164920 skos:exactMatch HGNC:6342 Unspecified KIT +OMIM:164920 skos:exactMatch UMLS:C1416655 Unspecified KIT +OMIM:164920 skos:exactMatch HGNC_symbol:KIT Unspecified KIT +OMIM:176900 skos:exactMatch UMLS:C1867621 Unspecified proteolytic capacity of plasma +OMIM:125310 skos:exactMatch UMLS:C4551768 Unspecified cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 +OMIM:125310 skos:exactMatch ORPHA:136 Unspecified cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 +OMIM:125310 skos:exactMatch UMLS:C0751587 Unspecified cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 +OMIM:164910 skos:exactMatch HGNC:9954 Unspecified REL +OMIM:164910 skos:exactMatch HGNC_symbol:REL Unspecified REL +OMIM:164910 skos:exactMatch UMLS:C0035018 Unspecified REL +OMIM:125300 skos:exactMatch UMLS:C1852250 Unspecified dens 1n dente and palatal invaginations +OMIM:125305 skos:exactMatch HGNC:3382 Unspecified EPB49 +OMIM:125305 skos:exactMatch UMLS:C1414427 Unspecified EPB49 +OMIM:125305 skos:exactMatch HGNC_symbol:DMTN Unspecified EPB49 +OMIM:113310 skos:exactMatch UMLS:C1862100 Unspecified brachydactyly-ectrodactyly with fibular aplasia or hypoplasia +OMIM:164940 skos:exactMatch HGNC:3697 Unspecified FGR +OMIM:164940 skos:exactMatch UMLS:C2986382 Unspecified FGR +OMIM:164940 skos:exactMatch HGNC_symbol:FGR Unspecified FGR +OMIM:164940 skos:exactMatch UMLS:C0919478 Unspecified FGR +OMIM:176920 skos:exactMatch UMLS:C1867610 Unspecified proteus syndrome +OMIM:176920 skos:exactMatch UMLS:C0085261 Unspecified proteus syndrome +OMIM:152950 skos:exactMatch UMLS:C1835265 Unspecified microcephaly with or without chorioretinopathy, lymphedema, or mental retardation +OMIM:149300 skos:exactMatch UMLS:C3276971 Unspecified nail disorder, nonsyndromic congenital, 2 +OMIM:149300 skos:exactMatch UMLS:C0266000 Unspecified nail disorder, nonsyndromic congenital, 2 +OMIM:306480 skos:exactMatch HGNC_symbol:PUDP Unspecified HDHD1A +OMIM:306480 skos:exactMatch HGNC:16818 Unspecified HDHD1A +OMIM:306480 skos:exactMatch UMLS:C1539652 Unspecified HDHD1A +OMIM:113301 skos:exactMatch UMLS:C1862101 Unspecified brachydactyly, iia e, with atrial septal defect, iia 2 +OMIM:113300 skos:exactMatch UMLS:C4315392 Unspecified brachydactyly, iia e1 +OMIM:113300 skos:exactMatch ORPHA:93387 Unspecified brachydactyly, iia e1 +OMIM:113300 skos:exactMatch UMLS:C1862102 Unspecified brachydactyly, iia e1 +OMIM:176914 skos:exactMatch HGNC_symbol:PPP1CC Unspecified PPP1CC +OMIM:176914 skos:exactMatch UMLS:C1418821 Unspecified PPP1CC +OMIM:176914 skos:exactMatch HGNC:9283 Unspecified PPP1CC +OMIM:176916 skos:exactMatch HGNC_symbol:PPP2CB Unspecified PPP2CB +OMIM:176916 skos:exactMatch HGNC:9300 Unspecified PPP2CB +OMIM:176916 skos:exactMatch UMLS:C1335242 Unspecified PPP2CB +OMIM:176915 skos:exactMatch HGNC_symbol:PPP2CA Unspecified PPP2CA +OMIM:176915 skos:exactMatch HGNC:9299 Unspecified PPP2CA +OMIM:176915 skos:exactMatch UMLS:C1335241 Unspecified PPP2CA +OMIM:176910 skos:exactMatch UMLS:C1418910 Unspecified PRKAR2A +OMIM:176910 skos:exactMatch HGNC:9391 Unspecified PRKAR2A +OMIM:176910 skos:exactMatch HGNC_symbol:PRKAR2A Unspecified PRKAR2A +OMIM:150300 skos:exactMatch UMLS:C1835555 Unspecified larynx, congenital partial atresia of +OMIM:176912 skos:exactMatch UMLS:C1418911 Unspecified PRKAR2B +OMIM:176912 skos:exactMatch HGNC:9392 Unspecified PRKAR2B +OMIM:176912 skos:exactMatch HGNC_symbol:PRKAR2B Unspecified PRKAR2B +OMIM:176911 skos:exactMatch UMLS:C1418909 Unspecified PRKAR1B +OMIM:176911 skos:exactMatch HGNC:9390 Unspecified PRKAR1B +OMIM:176911 skos:exactMatch HGNC_symbol:PRKAR1B Unspecified PRKAR1B +OMIM:609629 skos:exactMatch UMLS:C1864996 Unspecified visceral neuropathy, familial, 3, autosomal dominant +OMIM:610618 skos:exactMatch UMLS:C1857728 Unspecified angioedema, hereditary, 3 +OMIM:610618 skos:exactMatch ORPHA:100054 Unspecified angioedema, hereditary, 3 +OMIM:610618 skos:exactMatch ORPHA:91378 Unspecified angioedema, hereditary, 3 +OMIM:609628 skos:exactMatch UMLS:C1864997 Unspecified majeed syndrome +OMIM:610617 skos:exactMatch HGNC_symbol:DTL Unspecified DTL +OMIM:610617 skos:exactMatch UMLS:C1824983 Unspecified DTL +OMIM:610617 skos:exactMatch HGNC:30288 Unspecified DTL +OMIM:609627 skos:exactMatch UMLS:C1425852 Unspecified TAS2R50 +OMIM:609627 skos:exactMatch HGNC:18882 Unspecified TAS2R50 +OMIM:609627 skos:exactMatch HGNC_symbol:TAS2R50 Unspecified TAS2R50 +OMIM:610619 skos:exactMatch HGNC:3530 Unspecified F12 +OMIM:610619 skos:exactMatch HGNC_symbol:F12 Unspecified F12 +OMIM:610619 skos:exactMatch UMLS:C1414499 Unspecified F12 +OMIM:609626 skos:exactMatch HGNC_symbol:MDGA1 Unspecified MDGA1 +OMIM:609626 skos:exactMatch HGNC:19267 Unspecified MDGA1 +OMIM:609626 skos:exactMatch UMLS:C1426132 Unspecified MDGA1 +OMIM:610614 skos:exactMatch HGNC_symbol:TBRG1 Unspecified TBRG1 +OMIM:610614 skos:exactMatch HGNC:29551 Unspecified TBRG1 +OMIM:610614 skos:exactMatch UMLS:C1428872 Unspecified TBRG1 +OMIM:610613 skos:exactMatch HGNC:2591 Unspecified CYP11B1 +OMIM:610613 skos:exactMatch UMLS:C1413856 Unspecified CYP11B1 +OMIM:610613 skos:exactMatch HGNC_symbol:CYP11B1 Unspecified CYP11B1 +OMIM:610616 skos:exactMatch HGNC:29135 Unspecified ANKRD12 +OMIM:610616 skos:exactMatch UMLS:C1428796 Unspecified ANKRD12 +OMIM:610616 skos:exactMatch HGNC_symbol:ANKRD12 Unspecified ANKRD12 +OMIM:162300 skos:exactMatch UMLS:C0025269 Unspecified multiple endocrine neoplasia, iia 2b +OMIM:610615 skos:exactMatch HGNC:24703 Unspecified RABL6 +OMIM:610615 skos:exactMatch UMLS:C1428403 Unspecified RABL6 +OMIM:610615 skos:exactMatch HGNC_symbol:RABL6 Unspecified RABL6 +OMIM:164960 skos:exactMatch HGNC:8986 Unspecified PIM1 +OMIM:164960 skos:exactMatch HGNC_symbol:PIM1 Unspecified PIM1 +OMIM:164960 skos:exactMatch UMLS:C0812214 Unspecified PIM1 +OMIM:610610 skos:exactMatch UMLS:C1825349 Unspecified GINS3 +OMIM:610610 skos:exactMatch HGNC_symbol:GINS3 Unspecified GINS3 +OMIM:610610 skos:exactMatch HGNC:25851 Unspecified GINS3 +OMIM:610612 skos:exactMatch UMLS:C1857743 Unspecified leber congenital amaurosis 12 +OMIM:610611 skos:exactMatch UMLS:C1825350 Unspecified GINS4 +OMIM:610611 skos:exactMatch HGNC:28226 Unspecified GINS4 +OMIM:610611 skos:exactMatch HGNC_symbol:GINS4 Unspecified GINS4 +OMIM:176947 skos:exactMatch HGNC:12858 Unspecified ZAP70 +OMIM:176947 skos:exactMatch UMLS:C1421567 Unspecified ZAP70 +OMIM:176947 skos:exactMatch HGNC_symbol:ZAP70 Unspecified ZAP70 +OMIM:176947 skos:exactMatch UMLS:C2931299 Unspecified ZAP70 +OMIM:176947 skos:exactMatch UMLS:C4310768 Unspecified ZAP70 +OMIM:176946 skos:exactMatch HGNC:3386 Unspecified EPHA2 +OMIM:176946 skos:exactMatch UMLS:C1333337 Unspecified EPHA2 +OMIM:176946 skos:exactMatch HGNC_symbol:EPHA2 Unspecified EPHA2 +OMIM:176946 skos:exactMatch UMLS:C4016347 Unspecified EPHA2 +OMIM:176946 skos:exactMatch UMLS:C4016349 Unspecified EPHA2 +OMIM:176946 skos:exactMatch UMLS:C4016348 Unspecified EPHA2 +OMIM:176949 skos:exactMatch HGNC:6878 Unspecified MAPK4 +OMIM:176949 skos:exactMatch HGNC_symbol:MAPK4 Unspecified MAPK4 +OMIM:176949 skos:exactMatch UMLS:C1334479 Unspecified MAPK4 +OMIM:176948 skos:exactMatch HGNC:6871 Unspecified MAPK1 +OMIM:176948 skos:exactMatch UMLS:C5436773 Unspecified MAPK1 +OMIM:176948 skos:exactMatch HGNC_symbol:MAPK1 Unspecified MAPK1 +OMIM:176948 skos:exactMatch UMLS:C1366882 Unspecified MAPK1 +OMIM:176943 skos:exactMatch HGNC_symbol:FGFR2 Unspecified FGFR2 +OMIM:176943 skos:exactMatch HGNC:3689 Unspecified FGFR2 +OMIM:176943 skos:exactMatch UMLS:C0209706 Unspecified FGFR2 +OMIM:176943 skos:exactMatch UMLS:C1333542 Unspecified FGFR2 +OMIM:176942 skos:exactMatch UMLS:C0812288 Unspecified FER +OMIM:176942 skos:exactMatch HGNC:3655 Unspecified FER +OMIM:176942 skos:exactMatch HGNC_symbol:FER Unspecified FER +OMIM:176945 skos:exactMatch HGNC:3391 Unspecified EPHA8 +OMIM:176945 skos:exactMatch UMLS:C1333339 Unspecified EPHA8 +OMIM:176945 skos:exactMatch HGNC_symbol:EPHA8 Unspecified EPHA8 +OMIM:150310 skos:exactMatch UMLS:C1416783 Unspecified LAMB3 +OMIM:150310 skos:exactMatch HGNC:6490 Unspecified LAMB3 +OMIM:150310 skos:exactMatch HGNC_symbol:LAMB3 Unspecified LAMB3 +OMIM:176941 skos:exactMatch HGNC:12440 Unspecified TYK2 +OMIM:176941 skos:exactMatch HGNC_symbol:TYK2 Unspecified TYK2 +OMIM:176941 skos:exactMatch UMLS:C1421249 Unspecified TYK2 +OMIM:176940 skos:exactMatch HGNC:10486 Unspecified S100A1 +OMIM:176940 skos:exactMatch HGNC_symbol:S100A1 Unspecified S100A1 +OMIM:176940 skos:exactMatch UMLS:C1419781 Unspecified S100A1 +OMIM:609632 skos:exactMatch UMLS:C1539559 Unspecified GDPD5 +OMIM:609632 skos:exactMatch HGNC_symbol:GDPD5 Unspecified GDPD5 +OMIM:609632 skos:exactMatch HGNC:28804 Unspecified GDPD5 +OMIM:609631 skos:exactMatch HGNC:19102 Unspecified DDX58 +OMIM:609631 skos:exactMatch UMLS:C4225380 Unspecified DDX58 +OMIM:609631 skos:exactMatch HGNC_symbol:DDX58 Unspecified DDX58 +OMIM:609631 skos:exactMatch UMLS:C1539233 Unspecified DDX58 +OMIM:609630 skos:exactMatch UMLS:C1864995 Unspecified leukemia, chronic lymphocytic, susceptibility to, 1 +OMIM:137350 skos:exactMatch HGNC:4620 Unspecified GSN +OMIM:137350 skos:exactMatch UMLS:C1415323 Unspecified GSN +OMIM:137350 skos:exactMatch HGNC_symbol:GSN Unspecified GSN +OMIM:609636 skos:exactMatch UMLS:C1864828 Unspecified alzheimer disease 10 +OMIM:609635 skos:exactMatch HGNC_symbol:TCF23 Unspecified TCF23 +OMIM:609635 skos:exactMatch HGNC:18602 Unspecified TCF23 +OMIM:609635 skos:exactMatch UMLS:C1425640 Unspecified TCF23 +OMIM:609634 skos:exactMatch ORPHA:569 Unspecified migraine, familial hemiplegic, 3 +OMIM:609634 skos:exactMatch UMLS:C1864987 Unspecified migraine, familial hemiplegic, 3 +OMIM:609633 skos:exactMatch UMLS:C1864994 Unspecified major affective disorder 3 +OMIM:609618 skos:exactMatch HGNC_symbol:NRON Unspecified NRON +OMIM:609618 skos:exactMatch HGNC:37079 Unspecified NRON +OMIM:609618 skos:exactMatch UMLS:C1865021 Unspecified NRON +OMIM:610607 skos:exactMatch HGNC_symbol:CPEB4 Unspecified CPEB4 +OMIM:610607 skos:exactMatch HGNC:21747 Unspecified CPEB4 +OMIM:610607 skos:exactMatch UMLS:C1427737 Unspecified CPEB4 +OMIM:609617 skos:exactMatch HGNC_symbol:SLC30A2 Unspecified SLC30A2 +OMIM:609617 skos:exactMatch HGNC:11013 Unspecified SLC30A2 +OMIM:609617 skos:exactMatch UMLS:C1420179 Unspecified SLC30A2 +OMIM:610606 skos:exactMatch HGNC_symbol:CPEB3 Unspecified CPEB3 +OMIM:610606 skos:exactMatch HGNC:21746 Unspecified CPEB3 +OMIM:610606 skos:exactMatch UMLS:C1427736 Unspecified CPEB3 +OMIM:610609 skos:exactMatch HGNC:24575 Unspecified GINS2 +OMIM:610609 skos:exactMatch UMLS:C1825348 Unspecified GINS2 +OMIM:610609 skos:exactMatch HGNC_symbol:GINS2 Unspecified GINS2 +OMIM:609616 skos:exactMatch UMLS:C1865022 Unspecified spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness +OMIM:164953 skos:exactMatch UMLS:C1833841 Unspecified LPSA +OMIM:610608 skos:exactMatch UMLS:C4693356 Unspecified GINS1 +OMIM:610608 skos:exactMatch UMLS:C1825347 Unspecified GINS1 +OMIM:610608 skos:exactMatch HGNC_symbol:GINS1 Unspecified GINS1 +OMIM:610608 skos:exactMatch HGNC:28980 Unspecified GINS1 +OMIM:609615 skos:exactMatch HGNC:23797 Unspecified QTRT1 +OMIM:609615 skos:exactMatch UMLS:C1428265 Unspecified QTRT1 +OMIM:609615 skos:exactMatch HGNC_symbol:QTRT1 Unspecified QTRT1 +OMIM:164950 skos:exactMatch HGNC_symbol:FGF3 Unspecified FGF3 +OMIM:164950 skos:exactMatch UMLS:C0812290 Unspecified FGF3 +OMIM:164950 skos:exactMatch HGNC:3681 Unspecified FGF3 +OMIM:610603 skos:exactMatch UMLS:C1823176 Unspecified ALKBH3 +OMIM:610603 skos:exactMatch HGNC:30141 Unspecified ALKBH3 +OMIM:610603 skos:exactMatch HGNC_symbol:ALKBH3 Unspecified ALKBH3 +OMIM:610602 skos:exactMatch UMLS:C1823175 Unspecified ALKBH2 +OMIM:610602 skos:exactMatch HGNC:32487 Unspecified ALKBH2 +OMIM:610602 skos:exactMatch HGNC_symbol:ALKBH2 Unspecified ALKBH2 +OMIM:164951 skos:exactMatch UMLS:C0812223 Unspecified NOTCH4 +OMIM:164951 skos:exactMatch HGNC_symbol:NOTCH4 Unspecified NOTCH4 +OMIM:164951 skos:exactMatch HGNC:7884 Unspecified NOTCH4 +OMIM:610605 skos:exactMatch HGNC_symbol:CPEB2 Unspecified CPEB2 +OMIM:610605 skos:exactMatch HGNC:21745 Unspecified CPEB2 +OMIM:610605 skos:exactMatch UMLS:C1427735 Unspecified CPEB2 +OMIM:610604 skos:exactMatch HGNC_symbol:KIR3DP1 Unspecified KIR3DP1 +OMIM:610604 skos:exactMatch UMLS:C1825712 Unspecified KIR3DP1 +OMIM:610604 skos:exactMatch HGNC:16343 Unspecified KIR3DP1 +OMIM:609619 skos:exactMatch HGNC:31973 Unspecified GOLGA8B +OMIM:609619 skos:exactMatch HGNC_symbol:GOLGA8B Unspecified GOLGA8B +OMIM:609619 skos:exactMatch UMLS:C1825386 Unspecified GOLGA8B +OMIM:610601 skos:exactMatch HGNC_symbol:KLK15 Unspecified KLK15 +OMIM:610601 skos:exactMatch UMLS:C1367517 Unspecified KLK15 +OMIM:610601 skos:exactMatch HGNC:20453 Unspecified KLK15 +OMIM:610600 skos:exactMatch UMLS:C3463917 Unspecified corticosterone methyloxidase iia 2 deficiency +OMIM:150325 skos:exactMatch UMLS:C1416781 Unspecified LAMB2 +OMIM:150325 skos:exactMatch HGNC:6487 Unspecified LAMB2 +OMIM:150325 skos:exactMatch HGNC_symbol:LAMB2 Unspecified LAMB2 +OMIM:150320 skos:exactMatch UMLS:C1416775 Unspecified LAMA1 +OMIM:150320 skos:exactMatch HGNC:6481 Unspecified LAMA1 +OMIM:150320 skos:exactMatch HGNC_symbol:LAMA1 Unspecified LAMA1 +OMIM:176930 skos:exactMatch HGNC:3535 Unspecified F2 +OMIM:176930 skos:exactMatch HGNC_symbol:F2 Unspecified F2 +OMIM:176930 skos:exactMatch UMLS:C1414504 Unspecified F2 +OMIM:609621 skos:exactMatch UMLS:C1865019 Unspecified short qt syndrome 2 +OMIM:137360 skos:exactMatch UMLS:C1300229 Unspecified genochondromatosis +OMIM:609620 skos:exactMatch UMLS:C1865020 Unspecified short qt syndrome 1 +OMIM:164958 skos:exactMatch HGNC_symbol:CCN3 Unspecified CCN3 +OMIM:164958 skos:exactMatch UMLS:C0919441 Unspecified CCN3 +OMIM:164958 skos:exactMatch HGNC:7885 Unspecified CCN3 +OMIM:609625 skos:exactMatch UMLS:C2674937 Unspecified chromosome 10q26 deletion syndrome +OMIM:609624 skos:exactMatch HGNC_symbol:MCCD1 Unspecified MCCD1 +OMIM:609624 skos:exactMatch UMLS:C1427068 Unspecified MCCD1 +OMIM:609624 skos:exactMatch HGNC:20668 Unspecified MCCD1 +OMIM:609623 skos:exactMatch HGNC:24716 Unspecified RASIP1 +OMIM:609623 skos:exactMatch HGNC_symbol:RASIP1 Unspecified RASIP1 +OMIM:609623 skos:exactMatch UMLS:C1428404 Unspecified RASIP1 +OMIM:609622 skos:exactMatch UMLS:C1865018 Unspecified short qt syndrome 3 +OMIM:609607 skos:exactMatch HGNC_symbol:NECTIN4 Unspecified NECTIN4 +OMIM:609607 skos:exactMatch UMLS:C1426335 Unspecified NECTIN4 +OMIM:609607 skos:exactMatch HGNC:19688 Unspecified NECTIN4 +OMIM:162323 skos:exactMatch UMLS:C1420565 Unspecified TACR1 +OMIM:162323 skos:exactMatch HGNC:11526 Unspecified TACR1 +OMIM:162323 skos:exactMatch HGNC_symbol:TACR1 Unspecified TACR1 +OMIM:609606 skos:exactMatch HGNC:20962 Unspecified ATG3 +OMIM:609606 skos:exactMatch HGNC_symbol:ATG3 Unspecified ATG3 +OMIM:609606 skos:exactMatch UMLS:C1825493 Unspecified ATG3 +OMIM:609605 skos:exactMatch HGNC_symbol:MAP1LC3C Unspecified MAP1LC3C +OMIM:609605 skos:exactMatch HGNC:13353 Unspecified MAP1LC3C +OMIM:609605 skos:exactMatch UMLS:C1825942 Unspecified MAP1LC3C +OMIM:609604 skos:exactMatch HGNC_symbol:MAP1LC3B Unspecified MAP1LC3B +OMIM:609604 skos:exactMatch HGNC:13352 Unspecified MAP1LC3B +OMIM:609604 skos:exactMatch UMLS:C1421946 Unspecified MAP1LC3B +OMIM:162320 skos:exactMatch UMLS:C0038585 Unspecified TAC1 +OMIM:162320 skos:exactMatch HGNC:11517 Unspecified TAC1 +OMIM:162320 skos:exactMatch HGNC_symbol:TAC1 Unspecified TAC1 +OMIM:162320 skos:exactMatch UMLS:C1420563 Unspecified TAC1 +OMIM:609608 skos:exactMatch UMLS:C1865043 Unspecified ATG12 +OMIM:609608 skos:exactMatch HGNC:588 Unspecified ATG12 +OMIM:609608 skos:exactMatch HGNC_symbol:ATG12 Unspecified ATG12 +OMIM:162321 skos:exactMatch HGNC:11527 Unspecified TACR2 +OMIM:162321 skos:exactMatch HGNC_symbol:TACR2 Unspecified TACR2 +OMIM:162321 skos:exactMatch UMLS:C1420566 Unspecified TACR2 +OMIM:270150 skos:exactMatch UMLS:C1527336 Unspecified sjogren syndrome +OMIM:270150 skos:exactMatch UMLS:C0086981 Unspecified sjogren syndrome +OMIM:270150 skos:exactMatch ORPHA:289390 Unspecified sjogren syndrome +OMIM:164980 skos:exactMatch UMLS:C0919466 Unspecified FGF4 +OMIM:164980 skos:exactMatch HGNC_symbol:FGF4 Unspecified FGF4 +OMIM:164980 skos:exactMatch HGNC:3682 Unspecified FGF4 +OMIM:176960 skos:exactMatch HGNC:9393 Unspecified PRKCA +OMIM:176960 skos:exactMatch UMLS:C1335261 Unspecified PRKCA +OMIM:176960 skos:exactMatch HGNC_symbol:PRKCA Unspecified PRKCA +OMIM:174300 skos:exactMatch ORPHA:2919 Unspecified orofaciodigital syndrome 5 +OMIM:174300 skos:exactMatch UMLS:C1868118 Unspecified orofaciodigital syndrome 5 +OMIM:150330 skos:exactMatch UMLS:C2986382 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C5399785 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C1416877 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C0033300 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C2750785 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C1720860 Unspecified LMNA +OMIM:150330 skos:exactMatch HGNC_symbol:LMNA Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C0796031 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C1449563 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C0410190 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C4016243 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C4016241 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C0406585 Unspecified LMNA +OMIM:150330 skos:exactMatch HGNC:6636 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C1857829 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C1854154 Unspecified LMNA +OMIM:150330 skos:exactMatch UMLS:C2750035 Unspecified LMNA +OMIM:609610 skos:exactMatch HGNC_symbol:TUBGCP4 Unspecified TUBGCP4 +OMIM:609610 skos:exactMatch UMLS:C1865042 Unspecified TUBGCP4 +OMIM:609610 skos:exactMatch HGNC:16691 Unspecified TUBGCP4 +OMIM:137370 skos:exactMatch UMLS:C1842052 Unspecified genu valgum, st. helena familial +OMIM:609614 skos:exactMatch HGNC_symbol:REXO1 Unspecified REXO1 +OMIM:609614 skos:exactMatch HGNC:24616 Unspecified REXO1 +OMIM:609614 skos:exactMatch UMLS:C1826798 Unspecified REXO1 +OMIM:609613 skos:exactMatch HGNC_symbol:PLEKHM2 Unspecified PLEKHM2 +OMIM:609613 skos:exactMatch HGNC:29131 Unspecified PLEKHM2 +OMIM:609613 skos:exactMatch UMLS:C1428794 Unspecified PLEKHM2 +OMIM:609612 skos:exactMatch UMLS:C1865040 Unspecified fibrosis of extraocular muscles, congenital, with synergistic divergence +OMIM:609612 skos:exactMatch UMLS:C1865041 Unspecified fibrosis of extraocular muscles, congenital, with synergistic divergence +OMIM:609611 skos:exactMatch UMLS:C1424481 Unspecified ANP32E +OMIM:609611 skos:exactMatch HGNC_symbol:ANP32E Unspecified ANP32E +OMIM:609611 skos:exactMatch HGNC:16673 Unspecified ANP32E +OMIM:164975 skos:exactMatch HGNC_symbol:WNT5A Unspecified WNT5A +OMIM:164975 skos:exactMatch HGNC:12784 Unspecified WNT5A +OMIM:164975 skos:exactMatch UMLS:C0812229 Unspecified WNT5A +OMIM:150340 skos:exactMatch HGNC_symbol:LMNB1 Unspecified LMNB1 +OMIM:150340 skos:exactMatch UMLS:C1334345 Unspecified LMNB1 +OMIM:150340 skos:exactMatch HGNC:6637 Unspecified LMNB1 +OMIM:150341 skos:exactMatch HGNC_symbol:LMNB2 Unspecified LMNB2 +OMIM:150341 skos:exactMatch HGNC:6638 Unspecified LMNB2 +OMIM:150341 skos:exactMatch UMLS:C3887501 Unspecified LMNB2 +OMIM:150341 skos:exactMatch UMLS:C4225289 Unspecified LMNB2 +OMIM:150341 skos:exactMatch UMLS:C1416878 Unspecified LMNB2 +OMIM:609603 skos:exactMatch HGNC:20458 Unspecified CRYGN +OMIM:609603 skos:exactMatch HGNC_symbol:CRYGN Unspecified CRYGN +OMIM:609603 skos:exactMatch UMLS:C1426951 Unspecified CRYGN +OMIM:103950 skos:exactMatch HGNC_symbol:A2M Unspecified A2M +OMIM:103950 skos:exactMatch HGNC:7 Unspecified A2M +OMIM:103950 skos:exactMatch UMLS:C1412046 Unspecified A2M +OMIM:609602 skos:exactMatch HGNC_symbol:KLF17 Unspecified KLF17 +OMIM:609602 skos:exactMatch UMLS:C1825719 Unspecified KLF17 +OMIM:609602 skos:exactMatch HGNC:18830 Unspecified KLF17 +OMIM:269160 skos:exactMatch UMLS:C0266484 Unspecified schizencephaly +OMIM:609601 skos:exactMatch UMLS:C1425797 Unspecified ZNF397 +OMIM:609601 skos:exactMatch HGNC:18818 Unspecified ZNF397 +OMIM:609601 skos:exactMatch HGNC_symbol:ZNF397 Unspecified ZNF397 +OMIM:609600 skos:exactMatch UMLS:C1425802 Unspecified ZNF396 +OMIM:609600 skos:exactMatch HGNC_symbol:ZNF396 Unspecified ZNF396 +OMIM:609600 skos:exactMatch HGNC:18824 Unspecified ZNF396 +OMIM:607008 skos:exactMatch HGNC_symbol:ACADM Unspecified ACADM +OMIM:607008 skos:exactMatch UMLS:C0220710 Unspecified ACADM +OMIM:607008 skos:exactMatch HGNC:89 Unspecified ACADM +OMIM:607008 skos:exactMatch UMLS:C1412107 Unspecified ACADM +OMIM:607008 skos:exactMatch UMLS:C4017054 Unspecified ACADM +OMIM:607009 skos:exactMatch HGNC:17995 Unspecified TRPM6 +OMIM:607009 skos:exactMatch HGNC_symbol:TRPM6 Unspecified TRPM6 +OMIM:607009 skos:exactMatch UMLS:C1425225 Unspecified TRPM6 +OMIM:610658 skos:exactMatch HGNC_symbol:TRIM29 Unspecified TRIM29 +OMIM:610658 skos:exactMatch UMLS:C1424865 Unspecified TRIM29 +OMIM:610658 skos:exactMatch HGNC:17274 Unspecified TRIM29 +OMIM:610657 skos:exactMatch HGNC:28984 Unspecified WASHC5 +OMIM:610657 skos:exactMatch HGNC_symbol:WASHC5 Unspecified WASHC5 +OMIM:610657 skos:exactMatch UMLS:C1825654 Unspecified WASHC5 +OMIM:162341 skos:exactMatch HGNC:7843 Unspecified NMBR +OMIM:162341 skos:exactMatch UMLS:C1334884 Unspecified NMBR +OMIM:162341 skos:exactMatch HGNC_symbol:NMBR Unspecified NMBR +OMIM:610659 skos:exactMatch UMLS:C1415290 Unspecified GRID1 +OMIM:610659 skos:exactMatch HGNC:4575 Unspecified GRID1 +OMIM:610659 skos:exactMatch HGNC_symbol:GRID1 Unspecified GRID1 +OMIM:610654 skos:exactMatch HGNC_symbol:RRP1B Unspecified RRP1B +OMIM:610654 skos:exactMatch HGNC:23818 Unspecified RRP1B +OMIM:610654 skos:exactMatch UMLS:C1428276 Unspecified RRP1B +OMIM:610653 skos:exactMatch UMLS:C1857700 Unspecified RRP1 +OMIM:610653 skos:exactMatch HGNC_symbol:RRP1 Unspecified RRP1 +OMIM:610653 skos:exactMatch HGNC:18785 Unspecified RRP1 +OMIM:610656 skos:exactMatch UMLS:C1824541 Unspecified CCBL2 +OMIM:610656 skos:exactMatch HGNC_symbol:KYAT3 Unspecified CCBL2 +OMIM:610656 skos:exactMatch HGNC:33238 Unspecified CCBL2 +OMIM:162340 skos:exactMatch HGNC_symbol:NMB Unspecified NMB +OMIM:162340 skos:exactMatch HGNC:7842 Unspecified NMB +OMIM:162340 skos:exactMatch UMLS:C1417740 Unspecified NMB +OMIM:610655 skos:exactMatch UMLS:C1857688 Unspecified telangiectasia, hereditary hemorrhagic, iia 4 +OMIM:610650 skos:exactMatch HGNC:15759 Unspecified ADRM1 +OMIM:610650 skos:exactMatch UMLS:C1423708 Unspecified ADRM1 +OMIM:610650 skos:exactMatch HGNC_symbol:ADRM1 Unspecified ADRM1 +OMIM:610652 skos:exactMatch HGNC:8772 Unspecified PDE10A +OMIM:610652 skos:exactMatch UMLS:C1418412 Unspecified PDE10A +OMIM:610652 skos:exactMatch HGNC_symbol:PDE10A Unspecified PDE10A +OMIM:610651 skos:exactMatch UMLS:C0268136 Unspecified xeroderma pigmentosum, complementation group B +OMIM:610651 skos:exactMatch UMLS:C1970808 Unspecified xeroderma pigmentosum, complementation group B +OMIM:103920 skos:exactMatch UMLS:C3278302 Unspecified allergic bronchopulmonary aspergillosis, familial +OMIM:609672 skos:exactMatch UMLS:C1427982 Unspecified EXOC6 +OMIM:609672 skos:exactMatch HGNC:23196 Unspecified EXOC6 +OMIM:609672 skos:exactMatch HGNC_symbol:EXOC6 Unspecified EXOC6 +OMIM:607010 skos:exactMatch HGNC:18714 Unspecified DCP1A +OMIM:607010 skos:exactMatch HGNC_symbol:DCP1A Unspecified DCP1A +OMIM:607010 skos:exactMatch UMLS:C1539225 Unspecified DCP1A +OMIM:609671 skos:exactMatch UMLS:C1864771 Unspecified STEAP3 +OMIM:609671 skos:exactMatch HGNC_symbol:STEAP3 Unspecified STEAP3 +OMIM:609671 skos:exactMatch HGNC:24592 Unspecified STEAP3 +OMIM:176982 skos:exactMatch HGNC_symbol:PRKCZ Unspecified PRKCZ +OMIM:176982 skos:exactMatch UMLS:C1418928 Unspecified PRKCZ +OMIM:176982 skos:exactMatch HGNC:9412 Unspecified PRKCZ +OMIM:609670 skos:exactMatch UMLS:C1864772 Unspecified migraine with aura, susceptibility to, 9 +OMIM:609676 skos:exactMatch HGNC:29233 Unspecified MAVS +OMIM:609676 skos:exactMatch UMLS:C1864770 Unspecified MAVS +OMIM:609676 skos:exactMatch HGNC_symbol:MAVS Unspecified MAVS +OMIM:607013 skos:exactMatch HGNC:17298 Unspecified BRF2 +OMIM:607013 skos:exactMatch UMLS:C1332449 Unspecified BRF2 +OMIM:607013 skos:exactMatch HGNC_symbol:BRF2 Unspecified BRF2 +OMIM:607014 skos:exactMatch UMLS:C0086795 Unspecified hurler syndrome +OMIM:269150 skos:exactMatch UMLS:C0265227 Unspecified schinzel-giedion midface retraction syndrome +OMIM:609675 skos:exactMatch HGNC_symbol:SOSTDC1 Unspecified SOSTDC1 +OMIM:609675 skos:exactMatch HGNC:21748 Unspecified SOSTDC1 +OMIM:609675 skos:exactMatch UMLS:C1427738 Unspecified SOSTDC1 +OMIM:607011 skos:exactMatch HGNC_symbol:USP17L9P Unspecified USP17 +OMIM:607011 skos:exactMatch HGNC:12615 Unspecified USP17 +OMIM:607011 skos:exactMatch UMLS:C1421394 Unspecified USP17 +OMIM:609674 skos:exactMatch HGNC_symbol:ESCO1 Unspecified ESCO1 +OMIM:609674 skos:exactMatch UMLS:C1539366 Unspecified ESCO1 +OMIM:609674 skos:exactMatch HGNC:24645 Unspecified ESCO1 +OMIM:176981 skos:exactMatch HGNC:4399 Unspecified RACK1 +OMIM:176981 skos:exactMatch UMLS:C1415151 Unspecified RACK1 +OMIM:176981 skos:exactMatch HGNC_symbol:RACK1 Unspecified RACK1 +OMIM:176980 skos:exactMatch HGNC_symbol:PRKCG Unspecified PRKCG +OMIM:176980 skos:exactMatch UMLS:C1418919 Unspecified PRKCG +OMIM:176980 skos:exactMatch HGNC:9402 Unspecified PRKCG +OMIM:607012 skos:exactMatch HGNC_symbol:BDP1 Unspecified BDP1 +OMIM:607012 skos:exactMatch HGNC:13652 Unspecified BDP1 +OMIM:607012 skos:exactMatch UMLS:C1332409 Unspecified BDP1 +OMIM:609673 skos:exactMatch UMLS:C1428985 Unspecified PDGFD +OMIM:609673 skos:exactMatch HGNC_symbol:PDGFD Unspecified PDGFD +OMIM:609673 skos:exactMatch HGNC:30620 Unspecified PDGFD +OMIM:245180 skos:exactMatch UMLS:C0796010 Unspecified kifafa seizure disorder +OMIM:607017 skos:exactMatch UMLS:C1846922 Unspecified deafness, autosomal dominant 21 +OMIM:609679 skos:exactMatch HGNC:23501 Unspecified SLITRK3 +OMIM:609679 skos:exactMatch UMLS:C1428105 Unspecified SLITRK3 +OMIM:609679 skos:exactMatch HGNC_symbol:SLITRK3 Unspecified SLITRK3 +OMIM:607018 skos:exactMatch HGNC:18582 Unspecified ADGRL2 +OMIM:607018 skos:exactMatch HGNC_symbol:ADGRL2 Unspecified ADGRL2 +OMIM:607018 skos:exactMatch UMLS:C1425620 Unspecified ADGRL2 +OMIM:607015 skos:exactMatch UMLS:C0086431 Unspecified hurler-scheie syndrome +OMIM:609678 skos:exactMatch HGNC:20297 Unspecified SLITRK1 +OMIM:609678 skos:exactMatch HGNC_symbol:SLITRK1 Unspecified SLITRK1 +OMIM:609678 skos:exactMatch UMLS:C1426840 Unspecified SLITRK1 +OMIM:609677 skos:exactMatch HGNC:16994 Unspecified OS9 +OMIM:609677 skos:exactMatch UMLS:C1864769 Unspecified OS9 +OMIM:609677 skos:exactMatch HGNC_symbol:OS9 Unspecified OS9 +OMIM:607016 skos:exactMatch UMLS:C0026708 Unspecified scheie syndrome +OMIM:115900 skos:exactMatch UMLS:C4011454 Unspecified cataract 42 +OMIM:609659 skos:exactMatch HGNC:22940 Unspecified NLRP8 +OMIM:609659 skos:exactMatch HGNC_symbol:NLRP8 Unspecified NLRP8 +OMIM:609659 skos:exactMatch UMLS:C1427795 Unspecified NLRP8 +OMIM:610647 skos:exactMatch HGNC_symbol:NAT8L Unspecified NAT8L +OMIM:610647 skos:exactMatch HGNC:26742 Unspecified NAT8L +OMIM:610647 skos:exactMatch UMLS:C1826352 Unspecified NAT8L +OMIM:162330 skos:exactMatch UMLS:C3553843 Unspecified TAC3 +OMIM:162330 skos:exactMatch UMLS:C4016274 Unspecified TAC3 +OMIM:162330 skos:exactMatch HGNC:11521 Unspecified TAC3 +OMIM:162330 skos:exactMatch HGNC_symbol:TAC3 Unspecified TAC3 +OMIM:162330 skos:exactMatch UMLS:C1420564 Unspecified TAC3 +OMIM:610646 skos:exactMatch HGNC:33703 Unspecified CIB4 +OMIM:610646 skos:exactMatch HGNC_symbol:CIB4 Unspecified CIB4 +OMIM:610646 skos:exactMatch UMLS:C1857712 Unspecified CIB4 +OMIM:610649 skos:exactMatch UMLS:C1857711 Unspecified bone size quantitative trait locus 3 +OMIM:610648 skos:exactMatch UMLS:C4748341 Unspecified CUX2 +OMIM:610648 skos:exactMatch UMLS:C1426179 Unspecified CUX2 +OMIM:610648 skos:exactMatch HGNC_symbol:CUX2 Unspecified CUX2 +OMIM:610648 skos:exactMatch HGNC:19347 Unspecified CUX2 +OMIM:162332 skos:exactMatch HGNC:11528 Unspecified TACR3 +OMIM:162332 skos:exactMatch HGNC_symbol:TACR3 Unspecified TACR3 +OMIM:162332 skos:exactMatch UMLS:C1420567 Unspecified TACR3 +OMIM:610643 skos:exactMatch UMLS:C3277759 Unspecified CIP2A +OMIM:610643 skos:exactMatch UMLS:C1537472 Unspecified CIP2A +OMIM:610643 skos:exactMatch HGNC:29302 Unspecified CIP2A +OMIM:610643 skos:exactMatch HGNC_symbol:CIP2A Unspecified CIP2A +OMIM:610642 skos:exactMatch HGNC:26495 Unspecified ERP27 +OMIM:610642 skos:exactMatch HGNC_symbol:ERP27 Unspecified ERP27 +OMIM:610642 skos:exactMatch UMLS:C1824367 Unspecified ERP27 +OMIM:610645 skos:exactMatch UMLS:C1428390 Unspecified CIB3 +OMIM:610645 skos:exactMatch HGNC_symbol:CIB3 Unspecified CIB3 +OMIM:610645 skos:exactMatch HGNC:24580 Unspecified CIB3 +OMIM:610644 skos:exactMatch UMLS:C3149931 Unspecified palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal +OMIM:610644 skos:exactMatch UMLS:C2674504 Unspecified palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal +OMIM:610641 skos:exactMatch UMLS:C1823555 Unspecified TUT1 +OMIM:610641 skos:exactMatch HGNC:26184 Unspecified TUT1 +OMIM:610641 skos:exactMatch HGNC_symbol:TUT1 Unspecified TUT1 +OMIM:610640 skos:exactMatch HGNC:31675 Unspecified YTHDF2 +OMIM:610640 skos:exactMatch UMLS:C1538134 Unspecified YTHDF2 +OMIM:610640 skos:exactMatch HGNC_symbol:YTHDF2 Unspecified YTHDF2 +OMIM:176975 skos:exactMatch HGNC:9401 Unspecified PRKCE +OMIM:176975 skos:exactMatch HGNC_symbol:PRKCE Unspecified PRKCE +OMIM:176975 skos:exactMatch UMLS:C1418918 Unspecified PRKCE +OMIM:176977 skos:exactMatch HGNC:9399 Unspecified PRKCD +OMIM:176977 skos:exactMatch HGNC_symbol:PRKCD Unspecified PRKCD +OMIM:176977 skos:exactMatch UMLS:C1418916 Unspecified PRKCD +OMIM:609661 skos:exactMatch HGNC:22947 Unspecified NLRP7 +OMIM:609661 skos:exactMatch HGNC_symbol:NLRP7 Unspecified NLRP7 +OMIM:609661 skos:exactMatch UMLS:C1427802 Unspecified NLRP7 +OMIM:609660 skos:exactMatch HGNC:22937 Unspecified NLRP13 +OMIM:609660 skos:exactMatch HGNC_symbol:NLRP13 Unspecified NLRP13 +OMIM:609660 skos:exactMatch UMLS:C1427792 Unspecified NLRP13 +OMIM:174310 skos:exactMatch UMLS:C1868117 Unspecified polydactyly, postaxial, with progressive myopia +OMIM:607002 skos:exactMatch HGNC_symbol:PROK2 Unspecified PROK2 +OMIM:607002 skos:exactMatch HGNC:18455 Unspecified PROK2 +OMIM:607002 skos:exactMatch UMLS:C1425527 Unspecified PROK2 +OMIM:609665 skos:exactMatch HGNC:22939 Unspecified NLRP14 +OMIM:609665 skos:exactMatch HGNC_symbol:NLRP14 Unspecified NLRP14 +OMIM:609665 skos:exactMatch UMLS:C1427794 Unspecified NLRP14 +OMIM:150360 skos:exactMatch UMLS:C1835494 Unspecified laryngeal web, familial +OMIM:609664 skos:exactMatch HGNC_symbol:NLRP11 Unspecified NLRP11 +OMIM:609664 skos:exactMatch HGNC:22945 Unspecified NLRP11 +OMIM:609664 skos:exactMatch UMLS:C1427800 Unspecified NLRP11 +OMIM:607003 skos:exactMatch UMLS:C1336681 Unspecified TSLP +OMIM:607003 skos:exactMatch HGNC:30743 Unspecified TSLP +OMIM:607003 skos:exactMatch HGNC_symbol:TSLP Unspecified TSLP +OMIM:607000 skos:exactMatch HGNC:22963 Unspecified MED24 +OMIM:607000 skos:exactMatch HGNC_symbol:MED24 Unspecified MED24 +OMIM:607000 skos:exactMatch UMLS:C1427816 Unspecified MED24 +OMIM:176970 skos:exactMatch HGNC_symbol:PRKCB Unspecified PRKCB +OMIM:176970 skos:exactMatch UMLS:C1418913 Unspecified PRKCB +OMIM:176970 skos:exactMatch HGNC:9395 Unspecified PRKCB +OMIM:609663 skos:exactMatch HGNC:22941 Unspecified NLRP9 +OMIM:609663 skos:exactMatch HGNC_symbol:NLRP9 Unspecified NLRP9 +OMIM:609663 skos:exactMatch UMLS:C1427796 Unspecified NLRP9 +OMIM:607001 skos:exactMatch UMLS:C1539338 Unspecified EHMT1 +OMIM:607001 skos:exactMatch UMLS:C0795833 Unspecified EHMT1 +OMIM:607001 skos:exactMatch HGNC_symbol:EHMT1 Unspecified EHMT1 +OMIM:607001 skos:exactMatch HGNC:24650 Unspecified EHMT1 +OMIM:609662 skos:exactMatch HGNC:21464 Unspecified NLRP10 +OMIM:609662 skos:exactMatch HGNC_symbol:NLRP10 Unspecified NLRP10 +OMIM:609662 skos:exactMatch UMLS:C1826441 Unspecified NLRP10 +OMIM:609669 skos:exactMatch HGNC_symbol:WDR36 Unspecified WDR36 +OMIM:609669 skos:exactMatch UMLS:C1428992 Unspecified WDR36 +OMIM:609669 skos:exactMatch HGNC:30696 Unspecified WDR36 +OMIM:607006 skos:exactMatch HGNC:20044 Unspecified GEMIN6 +OMIM:607006 skos:exactMatch UMLS:C1426634 Unspecified GEMIN6 +OMIM:607006 skos:exactMatch HGNC_symbol:GEMIN6 Unspecified GEMIN6 +OMIM:607007 skos:exactMatch HGNC_symbol:SNAPIN Unspecified SNAPIN +OMIM:607007 skos:exactMatch HGNC:17145 Unspecified SNAPIN +OMIM:607007 skos:exactMatch UMLS:C1424777 Unspecified SNAPIN +OMIM:609668 skos:exactMatch UMLS:C1826668 Unspecified PPTC7 +OMIM:609668 skos:exactMatch HGNC_symbol:PPTC7 Unspecified PPTC7 +OMIM:609668 skos:exactMatch HGNC:30695 Unspecified PPTC7 +OMIM:245190 skos:exactMatch UMLS:C1855605 Unspecified kniest-like dysplasia, lethal +OMIM:607004 skos:exactMatch UMLS:C1846949 Unspecified brachydactyly, iia a1, B +OMIM:609667 skos:exactMatch HGNC_symbol:TAGAP Unspecified TAGAP +OMIM:609667 skos:exactMatch HGNC:15669 Unspecified TAGAP +OMIM:609667 skos:exactMatch UMLS:C1423645 Unspecified TAGAP +OMIM:607005 skos:exactMatch HGNC:20043 Unspecified GEMIN5 +OMIM:607005 skos:exactMatch UMLS:C1426633 Unspecified GEMIN5 +OMIM:607005 skos:exactMatch HGNC_symbol:GEMIN5 Unspecified GEMIN5 +OMIM:609666 skos:exactMatch HGNC:18182 Unspecified TPCN1 +OMIM:609666 skos:exactMatch HGNC_symbol:TPCN1 Unspecified TPCN1 +OMIM:609666 skos:exactMatch UMLS:C1425366 Unspecified TPCN1 +OMIM:610639 skos:exactMatch HGNC_symbol:GRID2IP Unspecified GRID2IP1 +OMIM:610639 skos:exactMatch HGNC:18464 Unspecified GRID2IP1 +OMIM:610639 skos:exactMatch UMLS:C1539616 Unspecified GRID2IP1 +OMIM:609649 skos:exactMatch UMLS:C1864801 Unspecified trichilemmal cyst 1 +OMIM:609648 skos:exactMatch HGNC:22938 Unspecified NLRP12 +OMIM:609648 skos:exactMatch HGNC_symbol:NLRP12 Unspecified NLRP12 +OMIM:609648 skos:exactMatch UMLS:C1864814 Unspecified NLRP12 +OMIM:610636 skos:exactMatch UMLS:C1537730 Unspecified MIR27B +OMIM:610636 skos:exactMatch HGNC_symbol:MIR27B Unspecified MIR27B +OMIM:610636 skos:exactMatch HGNC:31614 Unspecified MIR27B +OMIM:610635 skos:exactMatch HGNC:18831 Unspecified CTHRC1 +OMIM:610635 skos:exactMatch UMLS:C1425808 Unspecified CTHRC1 +OMIM:610635 skos:exactMatch HGNC_symbol:CTHRC1 Unspecified CTHRC1 +OMIM:610638 skos:exactMatch HGNC:5952 Unspecified IGSF5 +OMIM:610638 skos:exactMatch UMLS:C1416374 Unspecified IGSF5 +OMIM:610638 skos:exactMatch HGNC_symbol:IGSF5 Unspecified IGSF5 +OMIM:610637 skos:exactMatch UMLS:C1537660 Unspecified MARCHF5 +OMIM:610637 skos:exactMatch HGNC_symbol:MARCHF5 Unspecified MARCHF5 +OMIM:610637 skos:exactMatch HGNC:26025 Unspecified MARCHF5 +OMIM:610632 skos:exactMatch UMLS:C2986382 Unspecified MICU2 +OMIM:610632 skos:exactMatch HGNC:31830 Unspecified MICU2 +OMIM:610632 skos:exactMatch UMLS:C1539331 Unspecified MICU2 +OMIM:610632 skos:exactMatch HGNC_symbol:MICU2 Unspecified MICU2 +OMIM:162360 skos:exactMatch HGNC:7817 Unspecified NHLH1 +OMIM:162360 skos:exactMatch UMLS:C1417722 Unspecified NHLH1 +OMIM:162360 skos:exactMatch HGNC_symbol:NHLH1 Unspecified NHLH1 +OMIM:610631 skos:exactMatch UMLS:C1538751 Unspecified +OMIM:162361 skos:exactMatch HGNC:7818 Unspecified NHLH2 +OMIM:162361 skos:exactMatch UMLS:C1417723 Unspecified NHLH2 +OMIM:162361 skos:exactMatch HGNC_symbol:NHLH2 Unspecified NHLH2 +OMIM:610633 skos:exactMatch HGNC:27820 Unspecified MICU3 +OMIM:610633 skos:exactMatch UMLS:C1539332 Unspecified MICU3 +OMIM:610633 skos:exactMatch HGNC_symbol:MICU3 Unspecified MICU3 +OMIM:610630 skos:exactMatch HGNC_symbol:PTPN20 Unspecified PTPN20 +OMIM:610630 skos:exactMatch UMLS:C1538750 Unspecified PTPN20 +OMIM:610630 skos:exactMatch HGNC:23423 Unspecified PTPN20 +OMIM:103900 skos:exactMatch UMLS:C1260386 Unspecified hyperaldosteronism, familial, iia 1 +OMIM:609650 skos:exactMatch HGNC:22944 Unspecified NLRP6 +OMIM:609650 skos:exactMatch HGNC_symbol:NLRP6 Unspecified NLRP6 +OMIM:609650 skos:exactMatch UMLS:C1826439 Unspecified NLRP6 +OMIM:609654 skos:exactMatch UMLS:C1864791 Unspecified short stature and facioauriculothoracic malformations +OMIM:609653 skos:exactMatch UMLS:C1826392 Unspecified NDUFAF2 +OMIM:609653 skos:exactMatch HGNC:28086 Unspecified NDUFAF2 +OMIM:609653 skos:exactMatch HGNC_symbol:NDUFAF2 Unspecified NDUFAF2 +OMIM:609652 skos:exactMatch HGNC:18055 Unspecified GPHB5 +OMIM:609652 skos:exactMatch HGNC_symbol:GPHB5 Unspecified GPHB5 +OMIM:609652 skos:exactMatch UMLS:C1539600 Unspecified GPHB5 +OMIM:245160 skos:exactMatch UMLS:C1855606 Unspecified kniest-like dysplasia with pursed lips and ectopia lentis +OMIM:150370 skos:exactMatch HGNC:6502 Unspecified RPSA +OMIM:150370 skos:exactMatch UMLS:C1539696 Unspecified RPSA +OMIM:150370 skos:exactMatch HGNC_symbol:RPSA Unspecified RPSA +OMIM:609651 skos:exactMatch HGNC_symbol:GPHA2 Unspecified GPHA2 +OMIM:609651 skos:exactMatch UMLS:C1425268 Unspecified GPHA2 +OMIM:609651 skos:exactMatch HGNC:18054 Unspecified GPHA2 +OMIM:609658 skos:exactMatch UMLS:C1826438 Unspecified NLRP5 +OMIM:609658 skos:exactMatch HGNC:21269 Unspecified NLRP5 +OMIM:609658 skos:exactMatch HGNC_symbol:NLRP5 Unspecified NLRP5 +OMIM:609657 skos:exactMatch UMLS:C1864782 Unspecified bone size quantitative trait locus 2 +OMIM:609656 skos:exactMatch UMLS:C1864783 Unspecified bone size quantitative trait locus 1 +OMIM:609655 skos:exactMatch UMLS:C1864784 Unspecified talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals +OMIM:610629 skos:exactMatch UMLS:C1857719 Unspecified diamond-blackfan anemia 3 +OMIM:609639 skos:exactMatch UMLS:C1825450 Unspecified None +OMIM:609639 skos:exactMatch HGNC:4826 Unspecified None +OMIM:609639 skos:exactMatch HGNC_symbol:HBM Unspecified None +OMIM:610628 skos:exactMatch UMLS:C3552343 Unspecified hypogonadotropic hypogonadism 4 with or without anosmia +OMIM:186300 skos:exactMatch UMLS:C1861348 Unspecified syndactyly, iia 5 +OMIM:609638 skos:exactMatch UMLS:C1864826 Unspecified epidermolysis bullosa, lethal acantholytic +OMIM:609637 skos:exactMatch UMLS:C1864827 Unspecified holoprosencephaly 5 +OMIM:610625 skos:exactMatch HGNC_symbol:ART5 Unspecified ART5 +OMIM:610625 skos:exactMatch UMLS:C1540199 Unspecified ART5 +OMIM:610625 skos:exactMatch HGNC:24049 Unspecified ART5 +OMIM:306400 skos:exactMatch UMLS:C1844376 Unspecified granulomatous disease, chronic, X-linked +OMIM:306400 skos:exactMatch ORPHA:379 Unspecified granulomatous disease, chronic, X-linked +OMIM:270100 skos:exactMatch UMLS:C3495537 Unspecified heterotaxy, visceral, 5, autosomal +OMIM:270100 skos:exactMatch ORPHA:450 Unspecified heterotaxy, visceral, 5, autosomal +OMIM:270100 skos:exactMatch UMLS:C0037221 Unspecified heterotaxy, visceral, 5, autosomal +OMIM:610624 skos:exactMatch HGNC:21304 Unspecified ADPRHL2 +OMIM:610624 skos:exactMatch HGNC_symbol:ADPRS Unspecified ADPRHL2 +OMIM:610624 skos:exactMatch UMLS:C1427481 Unspecified ADPRHL2 +OMIM:610627 skos:exactMatch HGNC:23336 Unspecified A2ML1 +OMIM:610627 skos:exactMatch UMLS:C1825487 Unspecified A2ML1 +OMIM:610627 skos:exactMatch HGNC_symbol:A2ML1 Unspecified A2ML1 +OMIM:610627 skos:exactMatch UMLS:C2986382 Unspecified A2ML1 +OMIM:610627 skos:exactMatch UMLS:C1833692 Unspecified A2ML1 +OMIM:610626 skos:exactMatch UMLS:C1826649 Unspecified PLPP5 +OMIM:610626 skos:exactMatch HGNC:25026 Unspecified PLPP5 +OMIM:610626 skos:exactMatch HGNC_symbol:PLPP5 Unspecified PLPP5 +OMIM:610621 skos:exactMatch UMLS:C1825613 Unspecified INTU +OMIM:610621 skos:exactMatch HGNC:29239 Unspecified INTU +OMIM:610621 skos:exactMatch UMLS:C2986382 Unspecified INTU +OMIM:610621 skos:exactMatch UMLS:C4694024 Unspecified INTU +OMIM:610621 skos:exactMatch HGNC_symbol:INTU Unspecified INTU +OMIM:610621 skos:exactMatch UMLS:C4693616 Unspecified INTU +OMIM:610621 skos:exactMatch UMLS:C4693640 Unspecified INTU +OMIM:610620 skos:exactMatch HGNC_symbol:ADPRHL1 Unspecified ADPRHL1 +OMIM:610620 skos:exactMatch HGNC:21303 Unspecified ADPRHL1 +OMIM:610620 skos:exactMatch UMLS:C1427480 Unspecified ADPRHL1 +OMIM:610623 skos:exactMatch UMLS:C1864567 Unspecified cataract 11, multiple types +OMIM:610623 skos:exactMatch ORPHA:91492 Unspecified cataract 11, multiple types +OMIM:610622 skos:exactMatch UMLS:C1825324 Unspecified FUZ +OMIM:610622 skos:exactMatch HGNC_symbol:FUZ Unspecified FUZ +OMIM:610622 skos:exactMatch HGNC:26219 Unspecified FUZ +OMIM:610622 skos:exactMatch UMLS:C3891448 Unspecified FUZ +OMIM:162350 skos:exactMatch UMLS:C1834207 Unspecified ceroid lipofuscinosis, neuronal, 4 (kufs type) +OMIM:257150 skos:exactMatch UMLS:C1850380 Unspecified neutrophil actin dysfunction +OMIM:176993 skos:exactMatch UMLS:C1335797 Unspecified S100A2 +OMIM:176993 skos:exactMatch HGNC:10492 Unspecified S100A2 +OMIM:176993 skos:exactMatch HGNC_symbol:S100A2 Unspecified S100A2 +OMIM:176990 skos:exactMatch UMLS:C1419790 Unspecified S100B +OMIM:176990 skos:exactMatch HGNC_symbol:S100B Unspecified S100B +OMIM:176990 skos:exactMatch HGNC:10500 Unspecified S100B +OMIM:609643 skos:exactMatch UMLS:C1864823 Unspecified nguyen syndrome +OMIM:609642 skos:exactMatch UMLS:C2982394 Unspecified None +OMIM:609641 skos:exactMatch HGNC:24460 Unspecified EIF3M +OMIM:609641 skos:exactMatch HGNC_symbol:EIF3M Unspecified EIF3M +OMIM:609641 skos:exactMatch UMLS:C1864824 Unspecified EIF3M +OMIM:176992 skos:exactMatch UMLS:C1419785 Unspecified S100A3 +OMIM:176992 skos:exactMatch HGNC:10493 Unspecified S100A3 +OMIM:176992 skos:exactMatch HGNC_symbol:S100A3 Unspecified S100A3 +OMIM:609640 skos:exactMatch UMLS:C1864825 Unspecified frias syndrome +OMIM:176991 skos:exactMatch UMLS:C1419787 Unspecified S100A5 +OMIM:176991 skos:exactMatch HGNC:10495 Unspecified S100A5 +OMIM:176991 skos:exactMatch HGNC_symbol:S100A5 Unspecified S100A5 +OMIM:609647 skos:exactMatch UMLS:C1864815 Unspecified deafness, autosomal recessive 46 +OMIM:609646 skos:exactMatch UMLS:C1864818 Unspecified deafness, autosomal recessive 42 +OMIM:609645 skos:exactMatch HGNC:22943 Unspecified NLRP4 +OMIM:609645 skos:exactMatch HGNC_symbol:NLRP4 Unspecified NLRP4 +OMIM:609645 skos:exactMatch UMLS:C1427798 Unspecified NLRP4 +OMIM:609644 skos:exactMatch HGNC:23168 Unspecified FANCM +OMIM:609644 skos:exactMatch HGNC_symbol:FANCM Unspecified FANCM +OMIM:609644 skos:exactMatch UMLS:C1708000 Unspecified FANCM +OMIM:186357 skos:exactMatch UMLS:C1419893 Unspecified SDC3 +OMIM:186357 skos:exactMatch HGNC:10660 Unspecified SDC3 +OMIM:186357 skos:exactMatch HGNC_symbol:SDC3 Unspecified SDC3 +OMIM:186355 skos:exactMatch UMLS:C1419891 Unspecified SDC1 +OMIM:186355 skos:exactMatch HGNC:10658 Unspecified SDC1 +OMIM:186355 skos:exactMatch HGNC_symbol:SDC1 Unspecified SDC1 +OMIM:619031 skos:exactMatch UMLS:C5436646 Unspecified intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +OMIM:619030 skos:exactMatch UMLS:C5436642 Unspecified skeletal muscle glycogen content and metabolism quantitative trait locus +OMIM:619033 skos:exactMatch UMLS:C5436647 Unspecified vissers-bodmer syndrome +OMIM:619032 skos:exactMatch HGNC_symbol:RCN3 Unspecified RCN3 +OMIM:619032 skos:exactMatch HGNC:21145 Unspecified RCN3 +OMIM:619032 skos:exactMatch UMLS:C1427360 Unspecified RCN3 +OMIM:245130 skos:exactMatch UMLS:C1855626 Unspecified +OMIM:610698 skos:exactMatch UMLS:C1853147 Unspecified macular degeneration, age-related, 4 +OMIM:619035 skos:exactMatch HGNC:31620 Unspecified MIR29B2 +OMIM:619035 skos:exactMatch HGNC_symbol:MIR29B2 Unspecified MIR29B2 +OMIM:619035 skos:exactMatch UMLS:C1537734 Unspecified MIR29B2 +OMIM:259780 skos:exactMatch UMLS:C1850105 Unspecified otoonychoperoneal syndrome +OMIM:610697 skos:exactMatch HGNC:18486 Unspecified PDZD2 +OMIM:610697 skos:exactMatch UMLS:C1826563 Unspecified PDZD2 +OMIM:610697 skos:exactMatch HGNC_symbol:PDZD2 Unspecified PDZD2 +OMIM:619034 skos:exactMatch HGNC:19098 Unspecified RBPMS2 +OMIM:619034 skos:exactMatch HGNC_symbol:RBPMS2 Unspecified RBPMS2 +OMIM:619034 skos:exactMatch UMLS:C1538819 Unspecified RBPMS2 +OMIM:619037 skos:exactMatch HGNC:28408 Unspecified LRRC34 +OMIM:619037 skos:exactMatch HGNC_symbol:LRRC34 Unspecified LRRC34 +OMIM:619037 skos:exactMatch UMLS:C1537609 Unspecified LRRC34 +OMIM:619036 skos:exactMatch UMLS:C5436652 Unspecified myopathy, epilepsy, and progressive cerebral atrophy +OMIM:610699 skos:exactMatch HGNC:28073 Unspecified ZFAND2A +OMIM:610699 skos:exactMatch UMLS:C1823941 Unspecified ZFAND2A +OMIM:610699 skos:exactMatch HGNC_symbol:ZFAND2A Unspecified ZFAND2A +OMIM:610694 skos:exactMatch UMLS:C1422070 Unspecified PGPEP1 +OMIM:610694 skos:exactMatch HGNC_symbol:PGPEP1 Unspecified PGPEP1 +OMIM:610694 skos:exactMatch HGNC:13568 Unspecified PGPEP1 +OMIM:619039 skos:exactMatch HGNC:17922 Unspecified REPIN1 +OMIM:619039 skos:exactMatch UMLS:C1425179 Unspecified REPIN1 +OMIM:619039 skos:exactMatch HGNC_symbol:REPIN1 Unspecified REPIN1 +OMIM:619038 skos:exactMatch HGNC_symbol:SPOCD1 Unspecified SPOCD1 +OMIM:619038 skos:exactMatch HGNC:26338 Unspecified SPOCD1 +OMIM:619038 skos:exactMatch UMLS:C1539846 Unspecified SPOCD1 +OMIM:610693 skos:exactMatch UMLS:C1825557 Unspecified HYLS1 +OMIM:610693 skos:exactMatch HGNC:26558 Unspecified HYLS1 +OMIM:610693 skos:exactMatch HGNC_symbol:HYLS1 Unspecified HYLS1 +OMIM:610696 skos:exactMatch HGNC_symbol:PCLAF Unspecified None +OMIM:610696 skos:exactMatch UMLS:C1537443 Unspecified None +OMIM:610696 skos:exactMatch HGNC:28961 Unspecified None +OMIM:162380 skos:exactMatch UMLS:C1834205 Unspecified neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance +OMIM:610695 skos:exactMatch UMLS:C1537388 Unspecified HSPB6 +OMIM:610695 skos:exactMatch HGNC_symbol:HSPB6 Unspecified HSPB6 +OMIM:610695 skos:exactMatch HGNC:26511 Unspecified HSPB6 +OMIM:186350 skos:exactMatch UMLS:C1861347 Unspecified syndactyly-polydactyly-earlobe syndrome +OMIM:607050 skos:exactMatch HGNC_symbol:STARD5 Unspecified STARD5 +OMIM:607050 skos:exactMatch HGNC:18065 Unspecified STARD5 +OMIM:607050 skos:exactMatch UMLS:C1425276 Unspecified STARD5 +OMIM:259775 skos:exactMatch UMLS:C1850106 Unspecified raine syndrome +OMIM:607053 skos:exactMatch UMLS:C1846886 Unspecified high density lipoprotein cholesterol level quantitative trait locus 2 +OMIM:607054 skos:exactMatch HGNC:8934 Unspecified PHLDA3 +OMIM:607054 skos:exactMatch UMLS:C1418541 Unspecified PHLDA3 +OMIM:607054 skos:exactMatch HGNC_symbol:PHLDA3 Unspecified PHLDA3 +OMIM:607051 skos:exactMatch HGNC_symbol:STARD6 Unspecified STARD6 +OMIM:607051 skos:exactMatch HGNC:18066 Unspecified STARD6 +OMIM:607051 skos:exactMatch UMLS:C1425277 Unspecified STARD6 +OMIM:607052 skos:exactMatch UMLS:C1424700 Unspecified TUSC2 +OMIM:607052 skos:exactMatch HGNC_symbol:TUSC2 Unspecified TUSC2 +OMIM:607052 skos:exactMatch HGNC:17034 Unspecified TUSC2 +OMIM:607057 skos:exactMatch HGNC_symbol:USP18 Unspecified USP18 +OMIM:607057 skos:exactMatch UMLS:C4479376 Unspecified USP18 +OMIM:607057 skos:exactMatch HGNC:12616 Unspecified USP18 +OMIM:607057 skos:exactMatch UMLS:C1421395 Unspecified USP18 +OMIM:607058 skos:exactMatch UMLS:C1846885 Unspecified GJD2 +OMIM:607058 skos:exactMatch HGNC:19154 Unspecified GJD2 +OMIM:607058 skos:exactMatch HGNC_symbol:GJD2 Unspecified GJD2 +OMIM:607055 skos:exactMatch UMLS:C1425600 Unspecified TFB2M +OMIM:607055 skos:exactMatch HGNC:18559 Unspecified TFB2M +OMIM:607055 skos:exactMatch HGNC_symbol:TFB2M Unspecified TFB2M +OMIM:272750 skos:exactMatch UMLS:C0268275 Unspecified gm2-gangliosidosis, ab variant +OMIM:607056 skos:exactMatch UMLS:C1425472 Unspecified IMPG2 +OMIM:607056 skos:exactMatch HGNC_symbol:IMPG2 Unspecified IMPG2 +OMIM:607056 skos:exactMatch HGNC:18362 Unspecified IMPG2 +OMIM:150390 skos:exactMatch HGNC_symbol:LTBP1 Unspecified LTBP1 +OMIM:150390 skos:exactMatch UMLS:C1416928 Unspecified LTBP1 +OMIM:150390 skos:exactMatch HGNC:6714 Unspecified LTBP1 +OMIM:607059 skos:exactMatch UMLS:C1424765 Unspecified SLC39A4 +OMIM:607059 skos:exactMatch HGNC_symbol:SLC39A4 Unspecified SLC39A4 +OMIM:607059 skos:exactMatch HGNC:17129 Unspecified SLC39A4 +OMIM:619020 skos:exactMatch HGNC_symbol:LRP2BP Unspecified LRP2BP +OMIM:619020 skos:exactMatch HGNC:25434 Unspecified LRP2BP +OMIM:619020 skos:exactMatch UMLS:C1537591 Unspecified LRP2BP +OMIM:619022 skos:exactMatch UMLS:C1426714 Unspecified TMEM229B +OMIM:619022 skos:exactMatch HGNC_symbol:TMEM229B Unspecified TMEM229B +OMIM:619022 skos:exactMatch HGNC:20130 Unspecified TMEM229B +OMIM:619021 skos:exactMatch HGNC_symbol:ANKRD37 Unspecified ANKRD37 +OMIM:619021 skos:exactMatch UMLS:C1538295 Unspecified ANKRD37 +OMIM:619021 skos:exactMatch HGNC:29593 Unspecified ANKRD37 +OMIM:186360 skos:exactMatch HGNC:545 Unspecified ANXA7 +OMIM:186360 skos:exactMatch HGNC_symbol:ANXA7 Unspecified ANXA7 +OMIM:186360 skos:exactMatch UMLS:C1412427 Unspecified ANXA7 +OMIM:610687 skos:exactMatch UMLS:C1853154 Unspecified nemaline myopathy 7 +OMIM:610687 skos:exactMatch ORPHA:171436 Unspecified nemaline myopathy 7 +OMIM:619024 skos:exactMatch UMLS:C5436616 Unspecified combined oxidative phosphorylation deficiency 49 +OMIM:619023 skos:exactMatch HGNC_symbol:OSTC Unspecified OSTC +OMIM:619023 skos:exactMatch UMLS:C2678545 Unspecified OSTC +OMIM:619023 skos:exactMatch HGNC:24448 Unspecified OSTC +OMIM:610686 skos:exactMatch UMLS:C1853155 Unspecified UBXN2B +OMIM:610686 skos:exactMatch HGNC_symbol:UBXN2B Unspecified UBXN2B +OMIM:610686 skos:exactMatch HGNC:27035 Unspecified UBXN2B +OMIM:162370 skos:exactMatch UMLS:C1834206 Unspecified neuropathy, congenital, with arthrogryposis multiplex +OMIM:610689 skos:exactMatch HGNC_symbol:PAPPA-AS1 Unspecified None +OMIM:610689 skos:exactMatch HGNC:35152 Unspecified None +OMIM:610689 skos:exactMatch UMLS:C1853152 Unspecified None +OMIM:619026 skos:exactMatch UMLS:C5436628 Unspecified neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +OMIM:610688 skos:exactMatch UMLS:C1853153 Unspecified joubert syndrome 6 +OMIM:619025 skos:exactMatch UMLS:C5436623 Unspecified combined oxidative phosphorylation deficiency 50 +OMIM:610683 skos:exactMatch HGNC_symbol:BBS12 Unspecified BBS12 +OMIM:610683 skos:exactMatch UMLS:C1826414 Unspecified BBS12 +OMIM:610683 skos:exactMatch HGNC:26648 Unspecified BBS12 +OMIM:619028 skos:exactMatch ORPHA:139485 Unspecified coenzyme Q10 deficiency, primary, 9 +OMIM:619028 skos:exactMatch UMLS:C5436638 Unspecified coenzyme Q10 deficiency, primary, 9 +OMIM:610682 skos:exactMatch UMLS:C1853162 Unspecified osteogenesis imperfecta, iia 7 +OMIM:619027 skos:exactMatch UMLS:C5436637 Unspecified spastic paraplegia 83, autosomal recessive +OMIM:610685 skos:exactMatch UMLS:C1853156 Unspecified split-hand/foot malformation with long bone deficiency 2 +OMIM:610684 skos:exactMatch HGNC:19085 Unspecified CTDNEP1 +OMIM:610684 skos:exactMatch HGNC_symbol:CTDNEP1 Unspecified CTDNEP1 +OMIM:610684 skos:exactMatch UMLS:C1426001 Unspecified CTDNEP1 +OMIM:619029 skos:exactMatch UMLS:C1428752 Unspecified KRTCAP2 +OMIM:619029 skos:exactMatch HGNC:28942 Unspecified KRTCAP2 +OMIM:619029 skos:exactMatch HGNC_symbol:KRTCAP2 Unspecified KRTCAP2 +OMIM:610690 skos:exactMatch HGNC:4908 Unspecified HIBCH +OMIM:610690 skos:exactMatch UMLS:C0342738 Unspecified HIBCH +OMIM:610690 skos:exactMatch HGNC_symbol:HIBCH Unspecified HIBCH +OMIM:610690 skos:exactMatch UMLS:C1415543 Unspecified HIBCH +OMIM:610692 skos:exactMatch UMLS:C1415770 Unspecified HSPB7 +OMIM:610692 skos:exactMatch HGNC_symbol:HSPB7 Unspecified HSPB7 +OMIM:610692 skos:exactMatch HGNC:5249 Unspecified HSPB7 +OMIM:610691 skos:exactMatch UMLS:C1826727 Unspecified PRUNE2 +OMIM:610691 skos:exactMatch HGNC_symbol:PRUNE2 Unspecified PRUNE2 +OMIM:610691 skos:exactMatch HGNC:25209 Unspecified PRUNE2 +OMIM:607042 skos:exactMatch UMLS:C1413495 Unspecified CLN3 +OMIM:607042 skos:exactMatch HGNC_symbol:CLN3 Unspecified CLN3 +OMIM:607042 skos:exactMatch UMLS:C4017059 Unspecified CLN3 +OMIM:607042 skos:exactMatch UMLS:C0751383 Unspecified CLN3 +OMIM:607042 skos:exactMatch HGNC:2074 Unspecified CLN3 +OMIM:607043 skos:exactMatch UMLS:C1540046 Unspecified TRAF3IP2 +OMIM:607043 skos:exactMatch HGNC_symbol:TRAF3IP2 Unspecified TRAF3IP2 +OMIM:607043 skos:exactMatch HGNC:1343 Unspecified TRAF3IP2 +OMIM:607040 skos:exactMatch HGNC_symbol:ABCC11 Unspecified ABCC11 +OMIM:607040 skos:exactMatch HGNC:14639 Unspecified ABCC11 +OMIM:607040 skos:exactMatch UMLS:C1422806 Unspecified ABCC11 +OMIM:607041 skos:exactMatch HGNC_symbol:ABCC12 Unspecified ABCC12 +OMIM:607041 skos:exactMatch HGNC:14640 Unspecified ABCC12 +OMIM:607041 skos:exactMatch UMLS:C1422807 Unspecified ABCC12 +OMIM:607046 skos:exactMatch UMLS:C1425230 Unspecified TOMM22 +OMIM:607046 skos:exactMatch HGNC:18002 Unspecified TOMM22 +OMIM:607046 skos:exactMatch HGNC_symbol:TOMM22 Unspecified TOMM22 +OMIM:607047 skos:exactMatch HGNC:7106 Unspecified ATXN3 +OMIM:607047 skos:exactMatch HGNC_symbol:ATXN3 Unspecified ATXN3 +OMIM:607047 skos:exactMatch UMLS:C1538301 Unspecified ATXN3 +OMIM:245150 skos:exactMatch UMLS:C1855607 Unspecified keutel syndrome +OMIM:607044 skos:exactMatch UMLS:C1846888 Unspecified t-box 24 +OMIM:607045 skos:exactMatch HGNC:29893 Unspecified RMST +OMIM:607045 skos:exactMatch HGNC_symbol:RMST Unspecified RMST +OMIM:607045 skos:exactMatch UMLS:C1826836 Unspecified RMST +OMIM:607048 skos:exactMatch UMLS:C1425002 Unspecified STARD3 +OMIM:607048 skos:exactMatch HGNC_symbol:STARD3 Unspecified STARD3 +OMIM:607048 skos:exactMatch HGNC:17579 Unspecified STARD3 +OMIM:607049 skos:exactMatch UMLS:C1425271 Unspecified STARD4 +OMIM:607049 skos:exactMatch HGNC_symbol:STARD4 Unspecified STARD4 +OMIM:607049 skos:exactMatch HGNC:18058 Unspecified STARD4 +OMIM:610679 skos:exactMatch HGNC:8883 Unspecified CDK14 +OMIM:610679 skos:exactMatch HGNC_symbol:CDK14 Unspecified CDK14 +OMIM:610679 skos:exactMatch UMLS:C1418496 Unspecified CDK14 +OMIM:619011 skos:exactMatch UMLS:C5436599 Unspecified oocyte maturation defect 9 +OMIM:619010 skos:exactMatch HGNC:25416 Unspecified ATXN7L3 +OMIM:619010 skos:exactMatch HGNC_symbol:ATXN7L3 Unspecified ATXN7L3 +OMIM:619010 skos:exactMatch UMLS:C1538306 Unspecified ATXN7L3 +OMIM:619013 skos:exactMatch ORPHA:178506 Unspecified rajab interstitial lung disease with brain calcifications 2 +OMIM:619013 skos:exactMatch UMLS:C5436603 Unspecified rajab interstitial lung disease with brain calcifications 2 +OMIM:610676 skos:exactMatch UMLS:C1970807 Unspecified autism, susceptibility to, 7 +OMIM:610675 skos:exactMatch HGNC_symbol:USE1 Unspecified USE1 +OMIM:610675 skos:exactMatch HGNC:30882 Unspecified USE1 +OMIM:610675 skos:exactMatch UMLS:C1857683 Unspecified USE1 +OMIM:619012 skos:exactMatch UMLS:C5436602 Unspecified combined oxidative phosphorylation deficiency 48 +OMIM:619015 skos:exactMatch HGNC_symbol:ENY2 Unspecified ENY2 +OMIM:619015 skos:exactMatch HGNC:24449 Unspecified ENY2 +OMIM:619015 skos:exactMatch UMLS:C1825055 Unspecified ENY2 +OMIM:610678 skos:exactMatch UMLS:C1857682 Unspecified combined oxidative phosphorylation deficiency 4 +OMIM:610677 skos:exactMatch HGNC:24489 Unspecified LSM14A +OMIM:610677 skos:exactMatch UMLS:C1825913 Unspecified LSM14A +OMIM:610677 skos:exactMatch HGNC_symbol:LSM14A Unspecified LSM14A +OMIM:619014 skos:exactMatch UMLS:C1426138 Unspecified TTC5 +OMIM:619014 skos:exactMatch HGNC_symbol:TTC5 Unspecified TTC5 +OMIM:619014 skos:exactMatch HGNC:19274 Unspecified TTC5 +OMIM:610672 skos:exactMatch HGNC_symbol:NACC1 Unspecified NACC1 +OMIM:610672 skos:exactMatch UMLS:C1427213 Unspecified NACC1 +OMIM:610672 skos:exactMatch HGNC:20967 Unspecified NACC1 +OMIM:619017 skos:exactMatch HGNC_symbol:RHBDL3 Unspecified RHBDL3 +OMIM:619017 skos:exactMatch HGNC:16502 Unspecified RHBDL3 +OMIM:619017 skos:exactMatch UMLS:C1424334 Unspecified RHBDL3 +OMIM:610671 skos:exactMatch UMLS:C1538207 Unspecified ZNF628 +OMIM:610671 skos:exactMatch HGNC:28054 Unspecified ZNF628 +OMIM:610671 skos:exactMatch HGNC_symbol:ZNF628 Unspecified ZNF628 +OMIM:619016 skos:exactMatch ORPHA:2273 Unspecified ifap syndrome 2 +OMIM:619016 skos:exactMatch UMLS:C5436607 Unspecified ifap syndrome 2 +OMIM:619019 skos:exactMatch UMLS:C1537740 Unspecified MIR30D +OMIM:619019 skos:exactMatch HGNC_symbol:MIR30D Unspecified MIR30D +OMIM:619019 skos:exactMatch HGNC:31628 Unspecified MIR30D +OMIM:610674 skos:exactMatch HGNC_symbol:SPEF1 Unspecified SPEF1 +OMIM:610674 skos:exactMatch UMLS:C1423795 Unspecified SPEF1 +OMIM:610674 skos:exactMatch HGNC:15874 Unspecified SPEF1 +OMIM:610673 skos:exactMatch HGNC:25446 Unspecified NAIF1 +OMIM:610673 skos:exactMatch UMLS:C1428488 Unspecified NAIF1 +OMIM:610673 skos:exactMatch HGNC_symbol:NAIF1 Unspecified NAIF1 +OMIM:619018 skos:exactMatch UMLS:C1537737 Unspecified MIR30B +OMIM:619018 skos:exactMatch HGNC_symbol:MIR30B Unspecified MIR30B +OMIM:619018 skos:exactMatch HGNC:31625 Unspecified MIR30B +OMIM:609690 skos:exactMatch UMLS:C5436276 Unspecified FARSB +OMIM:609690 skos:exactMatch HGNC_symbol:FARSB Unspecified FARSB +OMIM:609690 skos:exactMatch HGNC:17800 Unspecified FARSB +OMIM:609690 skos:exactMatch UMLS:C1425085 Unspecified FARSB +OMIM:619009 skos:exactMatch UMLS:C5436597 Unspecified oocyte maturation defect 8 +OMIM:610681 skos:exactMatch HGNC_symbol:PFKM Unspecified PFKM +OMIM:610681 skos:exactMatch UMLS:C1418492 Unspecified PFKM +OMIM:610681 skos:exactMatch HGNC:8877 Unspecified PFKM +OMIM:610680 skos:exactMatch UMLS:C1853187 Unspecified holoprosencephaly, recurrent infections, and monocytosis +OMIM:607031 skos:exactMatch HGNC_symbol:LIAS Unspecified LIAS +OMIM:607031 skos:exactMatch UMLS:C1424272 Unspecified LIAS +OMIM:607031 skos:exactMatch HGNC:16429 Unspecified LIAS +OMIM:609694 skos:exactMatch UMLS:C1539584 Unspecified GMIP +OMIM:609694 skos:exactMatch HGNC:24852 Unspecified GMIP +OMIM:609694 skos:exactMatch HGNC_symbol:GMIP Unspecified GMIP +OMIM:607032 skos:exactMatch HGNC:30045 Unspecified SMG1 +OMIM:607032 skos:exactMatch HGNC_symbol:SMG1 Unspecified SMG1 +OMIM:607032 skos:exactMatch UMLS:C1846919 Unspecified SMG1 +OMIM:609693 skos:exactMatch HGNC_symbol:VWA7 Unspecified VWA7 +OMIM:609693 skos:exactMatch HGNC:13939 Unspecified VWA7 +OMIM:609693 skos:exactMatch UMLS:C1422287 Unspecified VWA7 +OMIM:609692 skos:exactMatch UMLS:C1823858 Unspecified WIPF2 +OMIM:609692 skos:exactMatch HGNC:30923 Unspecified WIPF2 +OMIM:609692 skos:exactMatch HGNC_symbol:WIPF2 Unspecified WIPF2 +OMIM:259750 skos:exactMatch UMLS:C0264080 Unspecified osteoporosis, juvenile +OMIM:607030 skos:exactMatch HGNC_symbol:GCA Unspecified GCA +OMIM:607030 skos:exactMatch HGNC:15990 Unspecified GCA +OMIM:607030 skos:exactMatch UMLS:C1423891 Unspecified GCA +OMIM:609691 skos:exactMatch HGNC:26178 Unspecified FHOD3 +OMIM:609691 skos:exactMatch HGNC_symbol:FHOD3 Unspecified FHOD3 +OMIM:609691 skos:exactMatch UMLS:C1428557 Unspecified FHOD3 +OMIM:607035 skos:exactMatch HGNC:16466 Unspecified SUFU +OMIM:607035 skos:exactMatch UMLS:C1424302 Unspecified SUFU +OMIM:607035 skos:exactMatch HGNC_symbol:SUFU Unspecified SUFU +OMIM:609698 skos:exactMatch UMLS:C1864761 Unspecified thyroid hormone metabolism, abnormal +OMIM:609698 skos:exactMatch ORPHA:171706 Unspecified thyroid hormone metabolism, abnormal +OMIM:609697 skos:exactMatch HGNC:29813 Unspecified SAP130 +OMIM:609697 skos:exactMatch UMLS:C1826976 Unspecified SAP130 +OMIM:609697 skos:exactMatch HGNC_symbol:SAP130 Unspecified SAP130 +OMIM:607036 skos:exactMatch HGNC_symbol:IVD Unspecified IVD +OMIM:607036 skos:exactMatch HGNC:6186 Unspecified IVD +OMIM:607036 skos:exactMatch UMLS:C1416523 Unspecified IVD +OMIM:607033 skos:exactMatch HGNC_symbol:TFB1M Unspecified TFB1M +OMIM:607033 skos:exactMatch UMLS:C1424702 Unspecified TFB1M +OMIM:607033 skos:exactMatch HGNC:17037 Unspecified TFB1M +OMIM:609696 skos:exactMatch HGNC:15550 Unspecified ARID4B +OMIM:609696 skos:exactMatch HGNC_symbol:ARID4B Unspecified ARID4B +OMIM:609696 skos:exactMatch UMLS:C1423571 Unspecified ARID4B +OMIM:609695 skos:exactMatch HGNC_symbol:HPD Unspecified HPD +OMIM:609695 skos:exactMatch UMLS:C0268623 Unspecified HPD +OMIM:609695 skos:exactMatch HGNC:5147 Unspecified HPD +OMIM:609695 skos:exactMatch UMLS:C2931042 Unspecified HPD +OMIM:609695 skos:exactMatch UMLS:C1415696 Unspecified HPD +OMIM:607039 skos:exactMatch UMLS:C1846896 Unspecified deafness, autosomal recessive 22 +OMIM:607037 skos:exactMatch HGNC_symbol:EHHADH Unspecified EHHADH +OMIM:607037 skos:exactMatch UMLS:C1414322 Unspecified EHHADH +OMIM:607037 skos:exactMatch HGNC:3247 Unspecified EHHADH +OMIM:609699 skos:exactMatch UMLS:C1442515 Unspecified MGLL +OMIM:609699 skos:exactMatch HGNC:17038 Unspecified MGLL +OMIM:609699 skos:exactMatch HGNC_symbol:MGLL Unspecified MGLL +OMIM:607038 skos:exactMatch HGNC:16378 Unspecified OTOA +OMIM:607038 skos:exactMatch HGNC_symbol:OTOA Unspecified OTOA +OMIM:607038 skos:exactMatch UMLS:C1424230 Unspecified OTOA +OMIM:607019 skos:exactMatch UMLS:C1422531 Unspecified RASSF3 +OMIM:607019 skos:exactMatch HGNC_symbol:RASSF3 Unspecified RASSF3 +OMIM:607019 skos:exactMatch HGNC:14271 Unspecified RASSF3 +OMIM:610669 skos:exactMatch UMLS:C1426024 Unspecified TNIP2 +OMIM:610669 skos:exactMatch HGNC_symbol:TNIP2 Unspecified TNIP2 +OMIM:610669 skos:exactMatch HGNC:19118 Unspecified TNIP2 +OMIM:610668 skos:exactMatch HGNC_symbol:INSC Unspecified INSC +OMIM:610668 skos:exactMatch HGNC:33116 Unspecified INSC +OMIM:610668 skos:exactMatch UMLS:C1825602 Unspecified INSC +OMIM:619000 skos:exactMatch ORPHA:528084 Unspecified intellectual developmental disorder with seizures and language delay +OMIM:619000 skos:exactMatch UMLS:C5436574 Unspecified intellectual developmental disorder with seizures and language delay +OMIM:610665 skos:exactMatch UMLS:C4017227 Unspecified FCGR3B +OMIM:610665 skos:exactMatch HGNC_symbol:FCGR3B Unspecified FCGR3B +OMIM:610665 skos:exactMatch HGNC:3620 Unspecified FCGR3B +OMIM:610665 skos:exactMatch UMLS:C1414556 Unspecified FCGR3B +OMIM:259770 skos:exactMatch UMLS:C0432252 Unspecified osteoporosis-pseudoglioma syndrome +OMIM:619002 skos:exactMatch HGNC:23199 Unspecified LRRC18 +OMIM:619002 skos:exactMatch HGNC_symbol:LRRC18 Unspecified LRRC18 +OMIM:619002 skos:exactMatch UMLS:C1537598 Unspecified LRRC18 +OMIM:610664 skos:exactMatch HGNC:28960 Unspecified None +OMIM:610664 skos:exactMatch HGNC_symbol:KIAA0100 Unspecified None +OMIM:610664 skos:exactMatch UMLS:C1825648 Unspecified None +OMIM:619001 skos:exactMatch UMLS:C1823660 Unspecified ANGEL2 +OMIM:619001 skos:exactMatch HGNC:30534 Unspecified ANGEL2 +OMIM:619001 skos:exactMatch HGNC_symbol:ANGEL2 Unspecified ANGEL2 +OMIM:619004 skos:exactMatch UMLS:C5436579 Unspecified deeah syndrome +OMIM:610667 skos:exactMatch UMLS:C1426328 Unspecified UCHL5 +OMIM:610667 skos:exactMatch HGNC:19678 Unspecified UCHL5 +OMIM:610667 skos:exactMatch HGNC_symbol:UCHL5 Unspecified UCHL5 +OMIM:619003 skos:exactMatch UMLS:C5436576 Unspecified mitochondrial complex 1 deficiency, nuclear iia 35 +OMIM:610666 skos:exactMatch HGNC_symbol:NRSN2 Unspecified NRSN2 +OMIM:610666 skos:exactMatch UMLS:C1826472 Unspecified NRSN2 +OMIM:610666 skos:exactMatch HGNC:16229 Unspecified NRSN2 +OMIM:610661 skos:exactMatch HGNC_symbol:NGLY1 Unspecified NGLY1 +OMIM:610661 skos:exactMatch HGNC:17646 Unspecified NGLY1 +OMIM:610661 skos:exactMatch UMLS:C3808991 Unspecified NGLY1 +OMIM:610661 skos:exactMatch UMLS:C1425023 Unspecified NGLY1 +OMIM:619006 skos:exactMatch HGNC:16034 Unspecified BIVM +OMIM:619006 skos:exactMatch HGNC_symbol:BIVM Unspecified BIVM +OMIM:619006 skos:exactMatch UMLS:C1423926 Unspecified BIVM +OMIM:619005 skos:exactMatch UMLS:C5436585 Unspecified neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +OMIM:610660 skos:exactMatch HGNC:24434 Unspecified GLYR1 +OMIM:610660 skos:exactMatch UMLS:C1857684 Unspecified GLYR1 +OMIM:610660 skos:exactMatch HGNC_symbol:GLYR1 Unspecified GLYR1 +OMIM:619008 skos:exactMatch UMLS:C1427631 Unspecified LINC00598 +OMIM:619008 skos:exactMatch HGNC_symbol:LINC00598 Unspecified LINC00598 +OMIM:619008 skos:exactMatch HGNC:42770 Unspecified LINC00598 +OMIM:610663 skos:exactMatch HGNC:20982 Unspecified SMYD2 +OMIM:610663 skos:exactMatch HGNC_symbol:SMYD2 Unspecified SMYD2 +OMIM:610663 skos:exactMatch UMLS:C1427221 Unspecified SMYD2 +OMIM:610662 skos:exactMatch HGNC_symbol:PIGY Unspecified PIGY +OMIM:610662 skos:exactMatch UMLS:C1826587 Unspecified PIGY +OMIM:610662 skos:exactMatch UMLS:C3540252 Unspecified PIGY +OMIM:610662 skos:exactMatch HGNC:28213 Unspecified PIGY +OMIM:619007 skos:exactMatch UMLS:C5436588 Unspecified retinitis pigmentosa 90 +OMIM:619007 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 90 +OMIM:610670 skos:exactMatch UMLS:C3539507 Unspecified CYP2U1 +OMIM:610670 skos:exactMatch UMLS:C1427016 Unspecified CYP2U1 +OMIM:610670 skos:exactMatch HGNC_symbol:CYP2U1 Unspecified CYP2U1 +OMIM:610670 skos:exactMatch HGNC:20582 Unspecified CYP2U1 +OMIM:609683 skos:exactMatch UMLS:C1425019 Unspecified DCLRE1B +OMIM:609683 skos:exactMatch HGNC_symbol:DCLRE1B Unspecified DCLRE1B +OMIM:609683 skos:exactMatch HGNC:17641 Unspecified DCLRE1B +OMIM:607020 skos:exactMatch HGNC:17609 Unspecified RASSF5 +OMIM:607020 skos:exactMatch UMLS:C1425011 Unspecified RASSF5 +OMIM:607020 skos:exactMatch HGNC_symbol:RASSF5 Unspecified RASSF5 +OMIM:257100 skos:exactMatch UMLS:C1850381 Unspecified neutropenia, lethal congenital, with eosinophilia +OMIM:609682 skos:exactMatch UMLS:C1425027 Unspecified DCLRE1A +OMIM:609682 skos:exactMatch HGNC_symbol:DCLRE1A Unspecified DCLRE1A +OMIM:609682 skos:exactMatch HGNC:17660 Unspecified DCLRE1A +OMIM:607021 skos:exactMatch HGNC_symbol:SEZ6L Unspecified SEZ6L +OMIM:607021 skos:exactMatch UMLS:C1419975 Unspecified SEZ6L +OMIM:607021 skos:exactMatch HGNC:10763 Unspecified SEZ6L +OMIM:609681 skos:exactMatch HGNC_symbol:SLITRK6 Unspecified SLITRK6 +OMIM:609681 skos:exactMatch HGNC:23503 Unspecified SLITRK6 +OMIM:609681 skos:exactMatch UMLS:C1428107 Unspecified SLITRK6 +OMIM:609680 skos:exactMatch HGNC_symbol:SLITRK5 Unspecified SLITRK5 +OMIM:609680 skos:exactMatch UMLS:C1539787 Unspecified SLITRK5 +OMIM:609680 skos:exactMatch HGNC:20295 Unspecified SLITRK5 +OMIM:607024 skos:exactMatch HGNC_symbol:DBR1 Unspecified DBR1 +OMIM:607024 skos:exactMatch HGNC:15594 Unspecified DBR1 +OMIM:607024 skos:exactMatch UMLS:C1423603 Unspecified DBR1 +OMIM:609687 skos:exactMatch HGNC:31568 Unspecified MIR196A2 +OMIM:609687 skos:exactMatch HGNC_symbol:MIR196A2 Unspecified MIR196A2 +OMIM:609687 skos:exactMatch UMLS:C1537831 Unspecified MIR196A2 +OMIM:607025 skos:exactMatch HGNC_symbol:MELK Unspecified MELK +OMIM:607025 skos:exactMatch HGNC:16870 Unspecified MELK +OMIM:607025 skos:exactMatch UMLS:C1424606 Unspecified MELK +OMIM:609686 skos:exactMatch UMLS:C1425467 Unspecified CLYBL +OMIM:609686 skos:exactMatch HGNC:18355 Unspecified CLYBL +OMIM:609686 skos:exactMatch HGNC_symbol:CLYBL Unspecified CLYBL +OMIM:609685 skos:exactMatch UMLS:C1824685 Unspecified CDCA7L +OMIM:609685 skos:exactMatch HGNC:30777 Unspecified CDCA7L +OMIM:609685 skos:exactMatch HGNC_symbol:CDCA7L Unspecified CDCA7L +OMIM:607022 skos:exactMatch HGNC:16234 Unspecified CTCFL +OMIM:607022 skos:exactMatch HGNC_symbol:CTCFL Unspecified CTCFL +OMIM:607022 skos:exactMatch UMLS:C1424110 Unspecified CTCFL +OMIM:609684 skos:exactMatch HGNC:13634 Unspecified MAL2 +OMIM:609684 skos:exactMatch UMLS:C1422122 Unspecified MAL2 +OMIM:609684 skos:exactMatch HGNC_symbol:MAL2 Unspecified MAL2 +OMIM:607023 skos:exactMatch UMLS:C1426344 Unspecified PLK2 +OMIM:607023 skos:exactMatch HGNC:19699 Unspecified PLK2 +OMIM:607023 skos:exactMatch HGNC_symbol:PLK2 Unspecified PLK2 +OMIM:607028 skos:exactMatch HGNC_symbol:ATP6V0D1 Unspecified ATP6V0D1 +OMIM:607028 skos:exactMatch HGNC:13724 Unspecified ATP6V0D1 +OMIM:607028 skos:exactMatch UMLS:C1422164 Unspecified ATP6V0D1 +OMIM:607029 skos:exactMatch UMLS:C1421422 Unspecified VAMP5 +OMIM:607029 skos:exactMatch HGNC:12646 Unspecified VAMP5 +OMIM:607029 skos:exactMatch HGNC_symbol:VAMP5 Unspecified VAMP5 +OMIM:609689 skos:exactMatch HGNC_symbol:CEP250 Unspecified CEP250 +OMIM:609689 skos:exactMatch UMLS:C1824724 Unspecified CEP250 +OMIM:609689 skos:exactMatch HGNC:1859 Unspecified CEP250 +OMIM:607026 skos:exactMatch HGNC:15997 Unspecified NAV2 +OMIM:607026 skos:exactMatch HGNC_symbol:NAV2 Unspecified NAV2 +OMIM:607026 skos:exactMatch UMLS:C1423897 Unspecified NAV2 +OMIM:607027 skos:exactMatch HGNC_symbol:ATP6V1A Unspecified ATP6V1A +OMIM:607027 skos:exactMatch UMLS:C4693934 Unspecified ATP6V1A +OMIM:607027 skos:exactMatch HGNC:851 Unspecified ATP6V1A +OMIM:607027 skos:exactMatch UMLS:C1412672 Unspecified ATP6V1A +OMIM:607027 skos:exactMatch UMLS:C4479409 Unspecified ATP6V1A +OMIM:609688 skos:exactMatch HGNC:31790 Unspecified MIR196B +OMIM:609688 skos:exactMatch HGNC_symbol:MIR196B Unspecified MIR196B +OMIM:609688 skos:exactMatch UMLS:C1537832 Unspecified MIR196B +OMIM:208150 skos:exactMatch UMLS:C1276035 Unspecified fetal akinesia deformation sequence 1 +OMIM:208150 skos:exactMatch ORPHA:994 Unspecified fetal akinesia deformation sequence 1 +OMIM:208155 skos:exactMatch UMLS:C1859711 Unspecified illum syndrome +OMIM:208158 skos:exactMatch UMLS:C1859710 Unspecified arthrogryposis with hyperkeratosis +OMIM:259730 skos:exactMatch UMLS:C0345407 Unspecified osteopetrosis, autosomal recessive 3 +OMIM:259730 skos:exactMatch ORPHA:2785 Unspecified osteopetrosis, autosomal recessive 3 +OMIM:235760 skos:exactMatch UMLS:C1856110 Unspecified hirschsprung disease with hypoplastic nails and dysmorphic facial features +OMIM:233100 skos:exactMatch UMLS:C0017980 Unspecified renal glucosuria +OMIM:233100 skos:exactMatch ORPHA:69076 Unspecified renal glucosuria +OMIM:245100 skos:exactMatch UMLS:C0796136 Unspecified richards-rundle syndrome +OMIM:235750 skos:exactMatch UMLS:C1856111 Unspecified hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect +OMIM:272700 skos:exactMatch UMLS:C0266039 Unspecified taurodontism +OMIM:610599 skos:exactMatch UMLS:C1864621 Unspecified retinitis pigmentosa 36 +OMIM:610598 skos:exactMatch UMLS:C1826694 Unspecified PRCD +OMIM:610598 skos:exactMatch HGNC_symbol:PRCD Unspecified PRCD +OMIM:610598 skos:exactMatch HGNC:32528 Unspecified PRCD +OMIM:610595 skos:exactMatch UMLS:C1825303 Unspecified FLAD1 +OMIM:610595 skos:exactMatch HGNC_symbol:FLAD1 Unspecified FLAD1 +OMIM:610595 skos:exactMatch HGNC:24671 Unspecified FLAD1 +OMIM:610594 skos:exactMatch HGNC:29418 Unspecified FNIP1 +OMIM:610594 skos:exactMatch HGNC_symbol:FNIP1 Unspecified FNIP1 +OMIM:610594 skos:exactMatch UMLS:C1825308 Unspecified FNIP1 +OMIM:610597 skos:exactMatch HGNC:21270 Unspecified GRWD1 +OMIM:610597 skos:exactMatch UMLS:C1427468 Unspecified GRWD1 +OMIM:610597 skos:exactMatch HGNC_symbol:GRWD1 Unspecified GRWD1 +OMIM:610596 skos:exactMatch HGNC:15519 Unspecified BOP1 +OMIM:610596 skos:exactMatch HGNC_symbol:BOP1 Unspecified BOP1 +OMIM:610596 skos:exactMatch UMLS:C1423549 Unspecified BOP1 +OMIM:259710 skos:exactMatch UMLS:C1850126 Unspecified osteopetrosis, autosomal recessive 2 +OMIM:610588 skos:exactMatch HGNC_symbol:DDN Unspecified DDN +OMIM:610588 skos:exactMatch UMLS:C1539230 Unspecified DDN +OMIM:610588 skos:exactMatch HGNC:24458 Unspecified DDN +OMIM:610587 skos:exactMatch UMLS:C1428755 Unspecified ARHGAP25 +OMIM:610587 skos:exactMatch HGNC_symbol:ARHGAP25 Unspecified ARHGAP25 +OMIM:610587 skos:exactMatch HGNC:28951 Unspecified ARHGAP25 +OMIM:610589 skos:exactMatch HGNC_symbol:ARHGAP11A Unspecified ARHGAP11A +OMIM:610589 skos:exactMatch UMLS:C1538922 Unspecified ARHGAP11A +OMIM:610589 skos:exactMatch HGNC:15783 Unspecified ARHGAP11A +OMIM:610584 skos:exactMatch UMLS:C1540071 Unspecified TRIM67 +OMIM:610584 skos:exactMatch HGNC_symbol:TRIM67 Unspecified TRIM67 +OMIM:610584 skos:exactMatch HGNC:31859 Unspecified TRIM67 +OMIM:610583 skos:exactMatch HGNC:17280 Unspecified ANKRD6 +OMIM:610583 skos:exactMatch HGNC_symbol:ANKRD6 Unspecified ANKRD6 +OMIM:610583 skos:exactMatch UMLS:C1424871 Unspecified ANKRD6 +OMIM:610586 skos:exactMatch UMLS:C1428476 Unspecified ARHGAP24 +OMIM:610586 skos:exactMatch HGNC_symbol:ARHGAP24 Unspecified ARHGAP24 +OMIM:610586 skos:exactMatch HGNC:25361 Unspecified ARHGAP24 +OMIM:610585 skos:exactMatch UMLS:C1428960 Unspecified ARHGAP22 +OMIM:610585 skos:exactMatch HGNC_symbol:ARHGAP22 Unspecified ARHGAP22 +OMIM:610585 skos:exactMatch HGNC:30320 Unspecified ARHGAP22 +OMIM:610591 skos:exactMatch HGNC_symbol:ARHGAP27 Unspecified ARHGAP27 +OMIM:610591 skos:exactMatch HGNC:31813 Unspecified ARHGAP27 +OMIM:610591 skos:exactMatch UMLS:C1538926 Unspecified ARHGAP27 +OMIM:610590 skos:exactMatch UMLS:C1428826 Unspecified ARHGAP23 +OMIM:610590 skos:exactMatch HGNC_symbol:ARHGAP23 Unspecified ARHGAP23 +OMIM:610590 skos:exactMatch HGNC:29293 Unspecified ARHGAP23 +OMIM:610593 skos:exactMatch UMLS:C1825945 Unspecified MAP6D1 +OMIM:610593 skos:exactMatch HGNC:25753 Unspecified MAP6D1 +OMIM:610593 skos:exactMatch HGNC_symbol:MAP6D1 Unspecified MAP6D1 +OMIM:259720 skos:exactMatch UMLS:C1968603 Unspecified osteopetrosis, autosomal recessive 5 +OMIM:610592 skos:exactMatch HGNC_symbol:ARHGAP28 Unspecified ARHGAP28 +OMIM:610592 skos:exactMatch HGNC:25509 Unspecified ARHGAP28 +OMIM:610592 skos:exactMatch UMLS:C1538927 Unspecified ARHGAP28 +OMIM:211750 skos:exactMatch UMLS:C0796095 Unspecified c syndrome +OMIM:259700 skos:exactMatch UMLS:C1850127 Unspecified osteopetrosis, autosomal recessive 1 +OMIM:211770 skos:exactMatch UMLS:C0796282 Unspecified cahmr syndrome +OMIM:235740 skos:exactMatch UMLS:C1856112 Unspecified hirschsprung disease with polydactyly, renal agenesis, and deafness +OMIM:235730 skos:exactMatch ORPHA:2152 Unspecified mowat-wilson syndrome +OMIM:235730 skos:exactMatch ORPHA:261552 Unspecified mowat-wilson syndrome +OMIM:235730 skos:exactMatch ORPHA:261537 Unspecified mowat-wilson syndrome +OMIM:235730 skos:exactMatch UMLS:C1856113 Unspecified mowat-wilson syndrome +OMIM:139900 skos:exactMatch UMLS:C0023114 Unspecified hand skill, relative +OMIM:235700 skos:exactMatch UMLS:C3150343 Unspecified hemolytic anemia, nonspherocytic, due to hexokinase deficiency +OMIM:140900 skos:exactMatch UMLS:C1841654 Unspecified hemangiomas of small intestine +OMIM:125370 skos:exactMatch UMLS:C0751781 Unspecified dentatorubral-pallidoluysian atrophy +OMIM:125370 skos:exactMatch UMLS:C2931846 Unspecified dentatorubral-pallidoluysian atrophy +OMIM:125370 skos:exactMatch ORPHA:101 Unspecified dentatorubral-pallidoluysian atrophy +OMIM:208100 skos:exactMatch UMLS:C1859721 Unspecified arthrogryposis multiplex congenita 2, neurogenic iia +OMIM:208100 skos:exactMatch ORPHA:1143 Unspecified arthrogryposis multiplex congenita 2, neurogenic iia +OMIM:208100 skos:exactMatch UMLS:C5435650 Unspecified arthrogryposis multiplex congenita 2, neurogenic iia +OMIM:125350 skos:exactMatch ORPHA:412206 Unspecified failure of tooth eruption, primary +OMIM:125350 skos:exactMatch UMLS:C1852222 Unspecified failure of tooth eruption, primary +OMIM:152900 skos:exactMatch UMLS:C1835272 Unspecified lymphedema and cerebral arteriovenous anomaly +OMIM:164900 skos:exactMatch UMLS:C1833872 Unspecified ophthalmomandibulomelic dysplasia +OMIM:125320 skos:exactMatch UMLS:C1852223 Unspecified dementia/parkinsonism with non-alzheimer amyloid plaques +OMIM:609706 skos:exactMatch UMLS:C1864746 Unspecified deafness, autosomal recessive 53 +OMIM:609705 skos:exactMatch UMLS:C1537723 Unspecified MIR24-1 +OMIM:609705 skos:exactMatch UMLS:C1864747 Unspecified MIR24-1 +OMIM:609705 skos:exactMatch HGNC:31607 Unspecified MIR24-1 +OMIM:609705 skos:exactMatch HGNC_symbol:MIR24-1 Unspecified MIR24-1 +OMIM:609704 skos:exactMatch UMLS:C1537711 Unspecified MIR16-1 +OMIM:609704 skos:exactMatch HGNC:31545 Unspecified MIR16-1 +OMIM:609704 skos:exactMatch HGNC_symbol:MIR16-1 Unspecified MIR16-1 +OMIM:139600 skos:exactMatch UMLS:C4025295 Unspecified hairy elbows +OMIM:609703 skos:exactMatch HGNC_symbol:MIR15A Unspecified MIR15A +OMIM:609703 skos:exactMatch UMLS:C1537709 Unspecified MIR15A +OMIM:609703 skos:exactMatch HGNC:31543 Unspecified MIR15A +OMIM:609709 skos:exactMatch HGNC_symbol:LARGE2 Unspecified GYLTL1B +OMIM:609709 skos:exactMatch UMLS:C1825437 Unspecified GYLTL1B +OMIM:609709 skos:exactMatch HGNC:16522 Unspecified GYLTL1B +OMIM:609708 skos:exactMatch UMLS:C1416902 Unspecified LPL +OMIM:609708 skos:exactMatch HGNC_symbol:LPL Unspecified LPL +OMIM:609708 skos:exactMatch HGNC:6677 Unspecified LPL +OMIM:609707 skos:exactMatch HGNC:26014 Unspecified DUS2L +OMIM:609707 skos:exactMatch UMLS:C1864745 Unspecified DUS2L +OMIM:609707 skos:exactMatch HGNC_symbol:DUS2 Unspecified DUS2L +OMIM:139605 skos:exactMatch HGNC_symbol:HES1 Unspecified HES1 +OMIM:139605 skos:exactMatch HGNC:5192 Unspecified HES1 +OMIM:139605 skos:exactMatch UMLS:C1415725 Unspecified HES1 +OMIM:609713 skos:exactMatch HGNC:16485 Unspecified HUS1B +OMIM:609713 skos:exactMatch HGNC_symbol:HUS1B Unspecified HUS1B +OMIM:609713 skos:exactMatch UMLS:C1424317 Unspecified HUS1B +OMIM:609712 skos:exactMatch HGNC:9020 Unspecified PKLR +OMIM:609712 skos:exactMatch HGNC_symbol:PKLR Unspecified PKLR +OMIM:609712 skos:exactMatch UMLS:C1418609 Unspecified PKLR +OMIM:609711 skos:exactMatch HGNC_symbol:UQCR11 Unspecified UQCR +OMIM:609711 skos:exactMatch HGNC:30862 Unspecified UQCR +OMIM:609711 skos:exactMatch UMLS:C1540163 Unspecified UQCR +OMIM:609710 skos:exactMatch HGNC_symbol:DCANP1 Unspecified DCANP1 +OMIM:609710 skos:exactMatch HGNC:24459 Unspecified DCANP1 +OMIM:609710 skos:exactMatch UMLS:C1824181 Unspecified DCANP1 +OMIM:127600 skos:exactMatch UMLS:C0265966 Unspecified dyskeratosis, hereditary benign intraepithelial +OMIM:609702 skos:exactMatch UMLS:C1428428 Unspecified PSMG2 +OMIM:609702 skos:exactMatch HGNC_symbol:PSMG2 Unspecified PSMG2 +OMIM:609702 skos:exactMatch HGNC:24929 Unspecified PSMG2 +OMIM:609701 skos:exactMatch HGNC_symbol:NAGLU Unspecified NAGLU +OMIM:609701 skos:exactMatch HGNC:7632 Unspecified NAGLU +OMIM:609701 skos:exactMatch UMLS:C1417593 Unspecified NAGLU +OMIM:140600 skos:exactMatch UMLS:C0263746 Unspecified osteoarthritis susceptibility 2 +OMIM:140600 skos:exactMatch UMLS:C0018862 Unspecified osteoarthritis susceptibility 2 +OMIM:140600 skos:exactMatch UMLS:C3887526 Unspecified osteoarthritis susceptibility 2 +OMIM:609700 skos:exactMatch HGNC_symbol:RABGEF1 Unspecified RABGEF1 +OMIM:609700 skos:exactMatch HGNC:17676 Unspecified RABGEF1 +OMIM:609700 skos:exactMatch UMLS:C1425033 Unspecified RABGEF1 +OMIM:139630 skos:exactMatch UMLS:C1841695 Unspecified hairy nose tip +OMIM:152600 skos:exactMatch UMLS:C1186306 Unspecified lunulae of fingernails +OMIM:610739 skos:exactMatch HGNC_symbol:TNRC6A Unspecified TNRC6A +OMIM:610739 skos:exactMatch HGNC:11969 Unspecified TNRC6A +OMIM:610739 skos:exactMatch UMLS:C1540035 Unspecified TNRC6A +OMIM:609749 skos:exactMatch UMLS:C1425050 Unspecified UXS1 +OMIM:609749 skos:exactMatch HGNC_symbol:UXS1 Unspecified UXS1 +OMIM:609749 skos:exactMatch HGNC:17729 Unspecified UXS1 +OMIM:610738 skos:exactMatch UMLS:C1853118 Unspecified neutropenia, severe congenital, 3, autosomal recessive +OMIM:609748 skos:exactMatch UMLS:C1540150 Unspecified UBL7 +OMIM:609748 skos:exactMatch HGNC_symbol:UBL7 Unspecified UBL7 +OMIM:609748 skos:exactMatch HGNC:28221 Unspecified UBL7 +OMIM:609747 skos:exactMatch HGNC_symbol:ABRA Unspecified ABRA +OMIM:609747 skos:exactMatch HGNC:30655 Unspecified ABRA +OMIM:609747 skos:exactMatch UMLS:C1825825 Unspecified ABRA +OMIM:610735 skos:exactMatch HGNC:18565 Unspecified MYOZ3 +OMIM:610735 skos:exactMatch HGNC_symbol:MYOZ3 Unspecified MYOZ3 +OMIM:610735 skos:exactMatch UMLS:C1425604 Unspecified MYOZ3 +OMIM:610734 skos:exactMatch HGNC:495 Unspecified ANKRD2 +OMIM:610734 skos:exactMatch UMLS:C1412405 Unspecified ANKRD2 +OMIM:610734 skos:exactMatch HGNC_symbol:ANKRD2 Unspecified ANKRD2 +OMIM:610737 skos:exactMatch HGNC_symbol:KSR2 Unspecified KSR2 +OMIM:610737 skos:exactMatch UMLS:C1537513 Unspecified KSR2 +OMIM:610737 skos:exactMatch HGNC:18610 Unspecified KSR2 +OMIM:610736 skos:exactMatch HGNC:24470 Unspecified ANKRD23 +OMIM:610736 skos:exactMatch UMLS:C1428378 Unspecified ANKRD23 +OMIM:610736 skos:exactMatch HGNC_symbol:ANKRD23 Unspecified ANKRD23 +OMIM:610731 skos:exactMatch HGNC:18588 Unspecified ANKRD7 +OMIM:610731 skos:exactMatch UMLS:C1425626 Unspecified ANKRD7 +OMIM:610731 skos:exactMatch HGNC_symbol:ANKRD7 Unspecified ANKRD7 +OMIM:610730 skos:exactMatch HGNC_symbol:CCT6B Unspecified CCT6B +OMIM:610730 skos:exactMatch HGNC:1621 Unspecified CCT6B +OMIM:610730 skos:exactMatch UMLS:C1413199 Unspecified CCT6B +OMIM:610733 skos:exactMatch ORPHA:648 Unspecified noonan syndrome 4 +OMIM:610733 skos:exactMatch UMLS:C1853120 Unspecified noonan syndrome 4 +OMIM:610732 skos:exactMatch HGNC:23700 Unspecified TTC12 +OMIM:610732 skos:exactMatch UMLS:C1428204 Unspecified TTC12 +OMIM:610732 skos:exactMatch UMLS:C5394104 Unspecified TTC12 +OMIM:610732 skos:exactMatch HGNC_symbol:TTC12 Unspecified TTC12 +OMIM:609753 skos:exactMatch UMLS:C1857847 Unspecified celiac disease, susceptibility to, 4 +OMIM:139650 skos:exactMatch UMLS:C1841694 Unspecified hairy palms and soles +OMIM:609752 skos:exactMatch HGNC:21081 Unspecified NCOA7 +OMIM:609752 skos:exactMatch HGNC_symbol:NCOA7 Unspecified NCOA7 +OMIM:609752 skos:exactMatch UMLS:C1427302 Unspecified NCOA7 +OMIM:609751 skos:exactMatch UMLS:C5394554 Unspecified ACOX1 +OMIM:609751 skos:exactMatch HGNC:119 Unspecified ACOX1 +OMIM:609751 skos:exactMatch HGNC_symbol:ACOX1 Unspecified ACOX1 +OMIM:609751 skos:exactMatch UMLS:C1849678 Unspecified ACOX1 +OMIM:609751 skos:exactMatch UMLS:C1412128 Unspecified ACOX1 +OMIM:609750 skos:exactMatch UMLS:C1857851 Unspecified epilepsy, idiopathic generalized, susceptibility to, 4 +OMIM:609757 skos:exactMatch UMLS:C1857844 Unspecified williams-beuren region duplication syndrome +OMIM:609757 skos:exactMatch ORPHA:96121 Unspecified williams-beuren region duplication syndrome +OMIM:609756 skos:exactMatch HGNC_symbol:CHRFAM7A Unspecified CHRFAM7A +OMIM:609756 skos:exactMatch UMLS:C1423729 Unspecified CHRFAM7A +OMIM:609756 skos:exactMatch HGNC:15781 Unspecified CHRFAM7A +OMIM:103600 skos:exactMatch HGNC:399 Unspecified ALB +OMIM:103600 skos:exactMatch HGNC_symbol:ALB Unspecified ALB +OMIM:103600 skos:exactMatch UMLS:C1412332 Unspecified ALB +OMIM:609755 skos:exactMatch UMLS:C1857845 Unspecified celiac disease, susceptibility to, 3 +OMIM:609754 skos:exactMatch UMLS:C1857846 Unspecified celiac disease, susceptibility to, 2 +OMIM:609739 skos:exactMatch HGNC_symbol:ILDR1 Unspecified ILDR1 +OMIM:609739 skos:exactMatch HGNC:28741 Unspecified ILDR1 +OMIM:609739 skos:exactMatch UMLS:C1537405 Unspecified ILDR1 +OMIM:610728 skos:exactMatch HGNC_symbol:SMPDL3A Unspecified SMPDL3A +OMIM:610728 skos:exactMatch UMLS:C1424952 Unspecified SMPDL3A +OMIM:610728 skos:exactMatch HGNC:17389 Unspecified SMPDL3A +OMIM:610727 skos:exactMatch UMLS:C1424793 Unspecified TRUB2 +OMIM:610727 skos:exactMatch HGNC:17170 Unspecified TRUB2 +OMIM:610727 skos:exactMatch HGNC_symbol:TRUB2 Unspecified TRUB2 +OMIM:609738 skos:exactMatch HGNC_symbol:IGSF9 Unspecified IGSF9 +OMIM:609738 skos:exactMatch UMLS:C1425335 Unspecified IGSF9 +OMIM:609738 skos:exactMatch HGNC:18132 Unspecified IGSF9 +OMIM:609737 skos:exactMatch HGNC:20237 Unspecified CRB3 +OMIM:609737 skos:exactMatch UMLS:C1426800 Unspecified CRB3 +OMIM:609737 skos:exactMatch HGNC_symbol:CRB3 Unspecified CRB3 +OMIM:609736 skos:exactMatch HGNC_symbol:CCDC88A Unspecified CCDC88A +OMIM:609736 skos:exactMatch HGNC:25523 Unspecified CCDC88A +OMIM:609736 skos:exactMatch UMLS:C1428495 Unspecified CCDC88A +OMIM:610729 skos:exactMatch HGNC_symbol:DNAAF10 Unspecified WDR92 +OMIM:610729 skos:exactMatch HGNC:25176 Unspecified WDR92 +OMIM:610729 skos:exactMatch UMLS:C1853122 Unspecified WDR92 +OMIM:610724 skos:exactMatch HGNC_symbol:MIR24-2 Unspecified MIR24-2 +OMIM:610724 skos:exactMatch UMLS:C1853130 Unspecified MIR24-2 +OMIM:610724 skos:exactMatch HGNC:31608 Unspecified MIR24-2 +OMIM:260480 skos:exactMatch UMLS:C1850080 Unspecified pancreatitis, sclerosing cholangitis, and sicca complex +OMIM:610723 skos:exactMatch HGNC_symbol:MIR23B Unspecified MIR23B +OMIM:610723 skos:exactMatch UMLS:C1853131 Unspecified MIR23B +OMIM:610723 skos:exactMatch HGNC:31606 Unspecified MIR23B +OMIM:610726 skos:exactMatch UMLS:C1423945 Unspecified TRUB1 +OMIM:610726 skos:exactMatch HGNC:16060 Unspecified TRUB1 +OMIM:610726 skos:exactMatch HGNC_symbol:TRUB1 Unspecified TRUB1 +OMIM:610725 skos:exactMatch UMLS:C1853124 Unspecified nephrotic syndrome, iia 3 +OMIM:610720 skos:exactMatch UMLS:C1853133 Unspecified MIR199A2 +OMIM:610720 skos:exactMatch HGNC:31572 Unspecified MIR199A2 +OMIM:610720 skos:exactMatch HGNC_symbol:MIR199A2 Unspecified MIR199A2 +OMIM:610721 skos:exactMatch HGNC_symbol:MIR214 Unspecified MIR214 +OMIM:610721 skos:exactMatch UMLS:C1853132 Unspecified MIR214 +OMIM:610721 skos:exactMatch HGNC:31591 Unspecified MIR214 +OMIM:272460 skos:exactMatch UMLS:C1848934 Unspecified spondylocarpotarsal synostosis syndrome +OMIM:609742 skos:exactMatch HGNC:19094 Unspecified IL4I1 +OMIM:609742 skos:exactMatch HGNC_symbol:IL4I1 Unspecified IL4I1 +OMIM:609742 skos:exactMatch UMLS:C1426007 Unspecified IL4I1 +OMIM:609741 skos:exactMatch UMLS:C1857853 Unspecified cataract 22, multiple types +OMIM:609740 skos:exactMatch HGNC:24566 Unspecified PHF19 +OMIM:609740 skos:exactMatch HGNC_symbol:PHF19 Unspecified PHF19 +OMIM:609740 skos:exactMatch UMLS:C1428388 Unspecified PHF19 +OMIM:609746 skos:exactMatch HGNC_symbol:ARHGAP10 Unspecified ARHGAP10 +OMIM:609746 skos:exactMatch HGNC:26099 Unspecified ARHGAP10 +OMIM:609746 skos:exactMatch UMLS:C1538921 Unspecified ARHGAP10 +OMIM:609745 skos:exactMatch UMLS:C1857852 Unspecified glaucoma 1, open angle, 1 +OMIM:609744 skos:exactMatch HGNC:30825 Unspecified CADM4 +OMIM:609744 skos:exactMatch HGNC_symbol:CADM4 Unspecified CADM4 +OMIM:609744 skos:exactMatch UMLS:C1429003 Unspecified CADM4 +OMIM:609743 skos:exactMatch HGNC_symbol:CADM3 Unspecified CADM3 +OMIM:609743 skos:exactMatch HGNC:17601 Unspecified CADM3 +OMIM:609743 skos:exactMatch UMLS:C1425010 Unspecified CADM3 +OMIM:609728 skos:exactMatch HGNC_symbol:MARS2 Unspecified MARS2 +OMIM:609728 skos:exactMatch HGNC:25133 Unspecified MARS2 +OMIM:609728 skos:exactMatch UMLS:C1537666 Unspecified MARS2 +OMIM:610717 skos:exactMatch UMLS:C1853136 Unspecified neutral lipid storage disease with myopathy +OMIM:609727 skos:exactMatch ORPHA:101009 Unspecified spastic paraplegia 29, autosomal dominant +OMIM:609727 skos:exactMatch UMLS:C1857855 Unspecified spastic paraplegia 29, autosomal dominant +OMIM:610716 skos:exactMatch HGNC:30750 Unspecified TIPIN +OMIM:610716 skos:exactMatch UMLS:C1823281 Unspecified TIPIN +OMIM:610716 skos:exactMatch HGNC_symbol:TIPIN Unspecified TIPIN +OMIM:610719 skos:exactMatch HGNC:31571 Unspecified MIR199A1 +OMIM:610719 skos:exactMatch HGNC_symbol:MIR199A1 Unspecified MIR199A1 +OMIM:610719 skos:exactMatch UMLS:C1853134 Unspecified MIR199A1 +OMIM:609726 skos:exactMatch HGNC_symbol:YPEL5 Unspecified YPEL5 +OMIM:609726 skos:exactMatch UMLS:C1538130 Unspecified YPEL5 +OMIM:609726 skos:exactMatch HGNC:18329 Unspecified YPEL5 +OMIM:610718 skos:exactMatch HGNC:31566 Unspecified MIR195 +OMIM:610718 skos:exactMatch HGNC_symbol:MIR195 Unspecified MIR195 +OMIM:610718 skos:exactMatch UMLS:C1853135 Unspecified MIR195 +OMIM:609725 skos:exactMatch HGNC_symbol:YPEL4 Unspecified YPEL4 +OMIM:609725 skos:exactMatch UMLS:C1538129 Unspecified YPEL4 +OMIM:609725 skos:exactMatch HGNC:18328 Unspecified YPEL4 +OMIM:610713 skos:exactMatch UMLS:C4310807 Unspecified brachydactyly-syndactyly syndrome +OMIM:610713 skos:exactMatch UMLS:C1853137 Unspecified brachydactyly-syndactyly syndrome +OMIM:610712 skos:exactMatch HGNC:30410 Unspecified TSSK6 +OMIM:610712 skos:exactMatch UMLS:C1540108 Unspecified TSSK6 +OMIM:610712 skos:exactMatch HGNC_symbol:TSSK6 Unspecified TSSK6 +OMIM:137000 skos:exactMatch UMLS:C1850937 Unspecified futcher line +OMIM:610715 skos:exactMatch UMLS:C1424985 Unspecified HEMGN +OMIM:610715 skos:exactMatch HGNC_symbol:HEMGN Unspecified HEMGN +OMIM:610715 skos:exactMatch HGNC:17509 Unspecified HEMGN +OMIM:260470 skos:exactMatch UMLS:C0038522 Unspecified subacute sclerosing panencephalitis +OMIM:610714 skos:exactMatch UMLS:C1538661 Unspecified PKN3 +OMIM:610714 skos:exactMatch HGNC_symbol:PKN3 Unspecified PKN3 +OMIM:610714 skos:exactMatch HGNC:17999 Unspecified PKN3 +OMIM:609729 skos:exactMatch HGNC:17704 Unspecified PDZRN3 +OMIM:609729 skos:exactMatch HGNC_symbol:PDZRN3 Unspecified PDZRN3 +OMIM:609729 skos:exactMatch UMLS:C1538622 Unspecified PDZRN3 +OMIM:610711 skos:exactMatch UMLS:C1540105 Unspecified TSSK4 +OMIM:610711 skos:exactMatch HGNC:19825 Unspecified TSSK4 +OMIM:610711 skos:exactMatch HGNC_symbol:TSSK4 Unspecified TSSK4 +OMIM:610710 skos:exactMatch HGNC:11401 Unspecified TSSK2 +OMIM:610710 skos:exactMatch UMLS:C1540103 Unspecified TSSK2 +OMIM:610710 skos:exactMatch HGNC_symbol:TSSK2 Unspecified TSSK2 +OMIM:176600 skos:exactMatch UMLS:C1867772 Unspecified presenile dementia, kraepelin iia +OMIM:272450 skos:exactMatch UMLS:C2931647 Unspecified syndesmodysplasic dwarfism +OMIM:609731 skos:exactMatch HGNC:15959 Unspecified CST11 +OMIM:609731 skos:exactMatch UMLS:C1423863 Unspecified CST11 +OMIM:609731 skos:exactMatch HGNC_symbol:CST11 Unspecified CST11 +OMIM:609730 skos:exactMatch HGNC:30552 Unspecified PDZRN4 +OMIM:609730 skos:exactMatch HGNC_symbol:PDZRN4 Unspecified PDZRN4 +OMIM:609730 skos:exactMatch UMLS:C1538623 Unspecified PDZRN4 +OMIM:137010 skos:exactMatch UMLS:C1850936 Unspecified FEA +OMIM:609735 skos:exactMatch HGNC_symbol:RFFL Unspecified RFFL +OMIM:609735 skos:exactMatch HGNC:24821 Unspecified RFFL +OMIM:609735 skos:exactMatch UMLS:C1826808 Unspecified RFFL +OMIM:609734 skos:exactMatch UMLS:C1857854 Unspecified obesity, early-onset, with adrenal insufficiency and red hair +OMIM:609733 skos:exactMatch HGNC_symbol:LNX2 Unspecified LNX2 +OMIM:609733 skos:exactMatch UMLS:C1426929 Unspecified LNX2 +OMIM:609733 skos:exactMatch HGNC:20421 Unspecified LNX2 +OMIM:609732 skos:exactMatch HGNC_symbol:LNX1 Unspecified LNX1 +OMIM:609732 skos:exactMatch HGNC:6657 Unspecified LNX1 +OMIM:609732 skos:exactMatch UMLS:C1825867 Unspecified LNX1 +OMIM:609717 skos:exactMatch HGNC_symbol:PCAT4 Unspecified PCAT4 +OMIM:609717 skos:exactMatch UMLS:C1857862 Unspecified PCAT4 +OMIM:609717 skos:exactMatch HGNC:24853 Unspecified PCAT4 +OMIM:610706 skos:exactMatch UMLS:C1853144 Unspecified deafness, congenital, with inner ear agenesis, microtia, and microdontia +OMIM:610705 skos:exactMatch HGNC:30811 Unspecified CD300LB +OMIM:610705 skos:exactMatch HGNC_symbol:CD300LB Unspecified CD300LB +OMIM:610705 skos:exactMatch UMLS:C1824679 Unspecified CD300LB +OMIM:609716 skos:exactMatch HGNC_symbol:TREML3P Unspecified TREML3 +OMIM:609716 skos:exactMatch HGNC:30806 Unspecified TREML3 +OMIM:609716 skos:exactMatch UMLS:C1540050 Unspecified TREML3 +OMIM:609715 skos:exactMatch HGNC:21092 Unspecified TREML2 +OMIM:609715 skos:exactMatch HGNC_symbol:TREML2 Unspecified TREML2 +OMIM:609715 skos:exactMatch UMLS:C1540048 Unspecified TREML2 +OMIM:610708 skos:exactMatch UMLS:C1853139 Unspecified optic atrophy 5 +OMIM:609714 skos:exactMatch HGNC:20434 Unspecified TREML1 +OMIM:609714 skos:exactMatch UMLS:C1426933 Unspecified TREML1 +OMIM:609714 skos:exactMatch HGNC_symbol:TREML1 Unspecified TREML1 +OMIM:610707 skos:exactMatch UMLS:C1853143 Unspecified psoriasis 8, susceptibility to +OMIM:610702 skos:exactMatch UMLS:C1424070 Unspecified HSPA12B +OMIM:610702 skos:exactMatch HGNC_symbol:HSPA12B Unspecified HSPA12B +OMIM:610702 skos:exactMatch HGNC:16193 Unspecified HSPA12B +OMIM:610701 skos:exactMatch UMLS:C1425959 Unspecified HSPA12A +OMIM:610701 skos:exactMatch HGNC_symbol:HSPA12A Unspecified HSPA12A +OMIM:610701 skos:exactMatch HGNC:19022 Unspecified HSPA12A +OMIM:610704 skos:exactMatch HGNC:30306 Unspecified PHB2 +OMIM:610704 skos:exactMatch HGNC_symbol:PHB2 Unspecified PHB2 +OMIM:610704 skos:exactMatch UMLS:C1538631 Unspecified PHB2 +OMIM:609719 skos:exactMatch UMLS:C1416847 Unspecified LHFPL3 +OMIM:609719 skos:exactMatch HGNC_symbol:LHFPL3 Unspecified LHFPL3 +OMIM:609719 skos:exactMatch HGNC:6589 Unspecified LHFPL3 +OMIM:610703 skos:exactMatch HGNC:16969 Unspecified HSPH1 +OMIM:610703 skos:exactMatch HGNC_symbol:HSPH1 Unspecified HSPH1 +OMIM:610703 skos:exactMatch UMLS:C1424667 Unspecified HSPH1 +OMIM:609718 skos:exactMatch UMLS:C1416846 Unspecified LHFPL2 +OMIM:609718 skos:exactMatch HGNC_symbol:LHFPL2 Unspecified LHFPL2 +OMIM:609718 skos:exactMatch HGNC:6588 Unspecified LHFPL2 +OMIM:610700 skos:exactMatch HGNC:26909 Unspecified HTRA4 +OMIM:610700 skos:exactMatch UMLS:C1537394 Unspecified HTRA4 +OMIM:610700 skos:exactMatch HGNC_symbol:HTRA4 Unspecified HTRA4 +OMIM:149000 skos:exactMatch UMLS:C0022739 Unspecified klippel-trenaunay-weber syndrome +OMIM:609720 skos:exactMatch UMLS:C1425708 Unspecified CRB2 +OMIM:609720 skos:exactMatch HGNC_symbol:CRB2 Unspecified CRB2 +OMIM:609720 skos:exactMatch HGNC:18688 Unspecified CRB2 +OMIM:272440 skos:exactMatch UMLS:C0795940 Unspecified filippi syndrome +OMIM:137020 skos:exactMatch HGNC:12390 Unspecified GFUS +OMIM:137020 skos:exactMatch HGNC_symbol:GFUS Unspecified GFUS +OMIM:137020 skos:exactMatch UMLS:C1421211 Unspecified GFUS +OMIM:609724 skos:exactMatch HGNC_symbol:YPEL3 Unspecified YPEL3 +OMIM:609724 skos:exactMatch UMLS:C1538128 Unspecified YPEL3 +OMIM:609724 skos:exactMatch HGNC:18327 Unspecified YPEL3 +OMIM:610709 skos:exactMatch HGNC_symbol:TSSK1B Unspecified TSSK1 +OMIM:610709 skos:exactMatch HGNC:14968 Unspecified TSSK1 +OMIM:610709 skos:exactMatch UMLS:C1540102 Unspecified TSSK1 +OMIM:609723 skos:exactMatch UMLS:C1425450 Unspecified YPEL2 +OMIM:609723 skos:exactMatch HGNC_symbol:YPEL2 Unspecified YPEL2 +OMIM:609723 skos:exactMatch HGNC:18326 Unspecified YPEL2 +OMIM:609722 skos:exactMatch HGNC:13992 Unspecified PDLIM2 +OMIM:609722 skos:exactMatch UMLS:C1422329 Unspecified PDLIM2 +OMIM:609722 skos:exactMatch HGNC_symbol:PDLIM2 Unspecified PDLIM2 +OMIM:609721 skos:exactMatch HGNC_symbol:PKD1L1 Unspecified PKD1L1 +OMIM:609721 skos:exactMatch UMLS:C1425267 Unspecified PKD1L1 +OMIM:609721 skos:exactMatch HGNC:18053 Unspecified PKD1L1 +OMIM:137026 skos:exactMatch UMLS:C1333698 Unspecified GRK4 +OMIM:137026 skos:exactMatch HGNC:4543 Unspecified GRK4 +OMIM:137026 skos:exactMatch HGNC_symbol:GRK4 Unspecified GRK4 +OMIM:607129 skos:exactMatch UMLS:C1537694 Unspecified MICAL1 +OMIM:607129 skos:exactMatch HGNC_symbol:MICAL1 Unspecified MICAL1 +OMIM:607129 skos:exactMatch HGNC:20619 Unspecified MICAL1 +OMIM:137028 skos:exactMatch HGNC_symbol:GALK2 Unspecified GALK2 +OMIM:137028 skos:exactMatch UMLS:C1414949 Unspecified GALK2 +OMIM:137028 skos:exactMatch HGNC:4119 Unspecified GALK2 +OMIM:610779 skos:exactMatch UMLS:C1417873 Unspecified NUBP2 +OMIM:610779 skos:exactMatch HGNC:8042 Unspecified NUBP2 +OMIM:610779 skos:exactMatch HGNC_symbol:NUBP2 Unspecified NUBP2 +OMIM:610778 skos:exactMatch UMLS:C1415150 Unspecified GNB1L +OMIM:610778 skos:exactMatch HGNC_symbol:GNB1L Unspecified GNB1L +OMIM:610778 skos:exactMatch HGNC:4397 Unspecified GNB1L +OMIM:619110 skos:exactMatch UMLS:C5436834 Unspecified arthrogryposis, distal, iia 1c +OMIM:619110 skos:exactMatch ORPHA:1146 Unspecified arthrogryposis, distal, iia 1c +OMIM:137025 skos:exactMatch HGNC_symbol:FYN Unspecified FYN +OMIM:137025 skos:exactMatch HGNC:4037 Unspecified FYN +OMIM:137025 skos:exactMatch UMLS:C0812303 Unspecified FYN +OMIM:610775 skos:exactMatch HGNC:1185 Unspecified TIGAR +OMIM:610775 skos:exactMatch UMLS:C1412882 Unspecified TIGAR +OMIM:610775 skos:exactMatch HGNC_symbol:TIGAR Unspecified TIGAR +OMIM:619112 skos:exactMatch UMLS:C5436838 Unspecified neuronopathy, distal hereditary motor, iia 5c +OMIM:619112 skos:exactMatch ORPHA:139536 Unspecified neuronopathy, distal hereditary motor, iia 5c +OMIM:610774 skos:exactMatch UMLS:C1420844 Unspecified CNPY3 +OMIM:610774 skos:exactMatch HGNC_symbol:CNPY3 Unspecified CNPY3 +OMIM:610774 skos:exactMatch UMLS:C4693663 Unspecified CNPY3 +OMIM:610774 skos:exactMatch HGNC:11968 Unspecified CNPY3 +OMIM:619111 skos:exactMatch UMLS:C5436837 Unspecified coach syndrome 2 +OMIM:619111 skos:exactMatch ORPHA:1454 Unspecified coach syndrome 2 +OMIM:610777 skos:exactMatch HGNC:20271 Unspecified NGDN +OMIM:610777 skos:exactMatch UMLS:C1826400 Unspecified NGDN +OMIM:610777 skos:exactMatch HGNC_symbol:NGDN Unspecified NGDN +OMIM:619114 skos:exactMatch HGNC:16258 Unspecified SMYD5 +OMIM:619114 skos:exactMatch UMLS:C1424131 Unspecified SMYD5 +OMIM:619114 skos:exactMatch HGNC_symbol:SMYD5 Unspecified SMYD5 +OMIM:610776 skos:exactMatch UMLS:C1835843 Unspecified DRAM1 +OMIM:610776 skos:exactMatch HGNC:25645 Unspecified DRAM1 +OMIM:610776 skos:exactMatch HGNC_symbol:DRAM1 Unspecified DRAM1 +OMIM:619113 skos:exactMatch UMLS:C5436841 Unspecified coach syndrome 3 +OMIM:619113 skos:exactMatch ORPHA:1454 Unspecified coach syndrome 3 +OMIM:610771 skos:exactMatch HGNC_symbol:CHD5 Unspecified CHD5 +OMIM:610771 skos:exactMatch HGNC:16816 Unspecified CHD5 +OMIM:610771 skos:exactMatch UMLS:C1424568 Unspecified CHD5 +OMIM:619116 skos:exactMatch HGNC_symbol:SLC39A9 Unspecified SLC39A9 +OMIM:619116 skos:exactMatch HGNC:20182 Unspecified SLC39A9 +OMIM:619116 skos:exactMatch UMLS:C1426756 Unspecified SLC39A9 +OMIM:619115 skos:exactMatch UMLS:C5436842 Unspecified combined osteogenesis imperfecta and ehlers-danlos syndrome 1 +OMIM:610770 skos:exactMatch HGNC_symbol:NOC2L Unspecified NOC2L +OMIM:610770 skos:exactMatch HGNC:24517 Unspecified NOC2L +OMIM:610770 skos:exactMatch UMLS:C1826446 Unspecified NOC2L +OMIM:619118 skos:exactMatch HGNC:24215 Unspecified ATP13A1 +OMIM:619118 skos:exactMatch UMLS:C1540214 Unspecified ATP13A1 +OMIM:619118 skos:exactMatch HGNC_symbol:ATP13A1 Unspecified ATP13A1 +OMIM:610773 skos:exactMatch UMLS:C1835845 Unspecified mitochondrial phosphate carrier deficiency +OMIM:610773 skos:exactMatch ORPHA:91130 Unspecified mitochondrial phosphate carrier deficiency +OMIM:619117 skos:exactMatch UMLS:C1824216 Unspecified ARL16 +OMIM:619117 skos:exactMatch HGNC_symbol:ARL16 Unspecified ARL16 +OMIM:619117 skos:exactMatch HGNC:27902 Unspecified ARL16 +OMIM:610772 skos:exactMatch HGNC_symbol:NKX6-3 Unspecified NKX6-3 +OMIM:610772 skos:exactMatch HGNC:26328 Unspecified NKX6-3 +OMIM:610772 skos:exactMatch UMLS:C1826430 Unspecified NKX6-3 +OMIM:619109 skos:exactMatch HGNC:30511 Unspecified YIF1B +OMIM:619109 skos:exactMatch UMLS:C1538126 Unspecified YIF1B +OMIM:619109 skos:exactMatch UMLS:C5436856 Unspecified YIF1B +OMIM:619109 skos:exactMatch HGNC_symbol:YIF1B Unspecified YIF1B +OMIM:619108 skos:exactMatch ORPHA:399805 Unspecified spermatogenic failure 48 +OMIM:619108 skos:exactMatch UMLS:C5436823 Unspecified spermatogenic failure 48 +OMIM:610780 skos:exactMatch HGNC_symbol:LSG1 Unspecified LSG1 +OMIM:610780 skos:exactMatch HGNC:25652 Unspecified LSG1 +OMIM:610780 skos:exactMatch UMLS:C1825910 Unspecified LSG1 +OMIM:607130 skos:exactMatch HGNC_symbol:RPTOR Unspecified RPTOR +OMIM:607130 skos:exactMatch HGNC:30287 Unspecified RPTOR +OMIM:607130 skos:exactMatch UMLS:C1846723 Unspecified RPTOR +OMIM:609793 skos:exactMatch HGNC:21207 Unspecified LINGO2 +OMIM:609793 skos:exactMatch UMLS:C1427414 Unspecified LINGO2 +OMIM:609793 skos:exactMatch HGNC_symbol:LINGO2 Unspecified LINGO2 +OMIM:176620 skos:exactMatch UMLS:C1867771 Unspecified priapism, familial idiopathic +OMIM:609792 skos:exactMatch HGNC:21206 Unspecified LINGO3 +OMIM:609792 skos:exactMatch UMLS:C1427413 Unspecified LINGO3 +OMIM:609792 skos:exactMatch HGNC_symbol:LINGO3 Unspecified LINGO3 +OMIM:607131 skos:exactMatch ORPHA:166024 Unspecified al-gazali-bakalinova syndrome +OMIM:607131 skos:exactMatch UMLS:C1846722 Unspecified al-gazali-bakalinova syndrome +OMIM:609791 skos:exactMatch HGNC:21205 Unspecified LINGO1 +OMIM:609791 skos:exactMatch UMLS:C1427412 Unspecified LINGO1 +OMIM:609791 skos:exactMatch HGNC_symbol:LINGO1 Unspecified LINGO1 +OMIM:609790 skos:exactMatch UMLS:C1853360 Unspecified alzheimer disease 11 +OMIM:609797 skos:exactMatch HGNC:17208 Unspecified BICD2 +OMIM:609797 skos:exactMatch HGNC_symbol:BICD2 Unspecified BICD2 +OMIM:609797 skos:exactMatch UMLS:C1424822 Unspecified BICD2 +OMIM:137030 skos:exactMatch UMLS:C5394377 Unspecified GALM +OMIM:137030 skos:exactMatch HGNC_symbol:GALM Unspecified GALM +OMIM:137030 skos:exactMatch HGNC:24063 Unspecified GALM +OMIM:137030 skos:exactMatch UMLS:C1428343 Unspecified GALM +OMIM:607134 skos:exactMatch UMLS:C1846719 Unspecified specific language impairment 3 +OMIM:308960 skos:exactMatch UMLS:C3501854 Unspecified leukemia, acute, X-linked +OMIM:272430 skos:exactMatch UMLS:C1832409 Unspecified crisponi/cold-induced sweating syndrome 1 +OMIM:272430 skos:exactMatch ORPHA:157820 Unspecified crisponi/cold-induced sweating syndrome 1 +OMIM:272430 skos:exactMatch UMLS:C1848947 Unspecified crisponi/cold-induced sweating syndrome 1 +OMIM:609796 skos:exactMatch UMLS:C1853354 Unspecified peeling skin syndrome 2 +OMIM:607135 skos:exactMatch UMLS:C1846718 Unspecified creatinine clearance quantitative trait locus +OMIM:607132 skos:exactMatch UMLS:C1846721 Unspecified laryngeal atresia, encephalocele, and limb deformities +OMIM:609795 skos:exactMatch HGNC_symbol:QRFP Unspecified QRFP +OMIM:609795 skos:exactMatch UMLS:C1853355 Unspecified QRFP +OMIM:609795 skos:exactMatch HGNC:29982 Unspecified QRFP +OMIM:609794 skos:exactMatch UMLS:C1537616 Unspecified LINGO4 +OMIM:609794 skos:exactMatch HGNC:31814 Unspecified LINGO4 +OMIM:609794 skos:exactMatch HGNC_symbol:LINGO4 Unspecified LINGO4 +OMIM:306300 skos:exactMatch UMLS:C1844406 Unspecified granulomas, congenital cerebral +OMIM:607138 skos:exactMatch HGNC:18854 Unspecified CREB3L4 +OMIM:607138 skos:exactMatch UMLS:C1425825 Unspecified CREB3L4 +OMIM:607138 skos:exactMatch HGNC_symbol:CREB3L4 Unspecified CREB3L4 +OMIM:607139 skos:exactMatch HGNC_symbol:FANCA Unspecified FANCA +OMIM:607139 skos:exactMatch HGNC:3582 Unspecified FANCA +OMIM:607139 skos:exactMatch UMLS:C1414527 Unspecified FANCA +OMIM:607136 skos:exactMatch ORPHA:98759 Unspecified spinocerebellar ataxia 17 +OMIM:607136 skos:exactMatch UMLS:C1846707 Unspecified spinocerebellar ataxia 17 +OMIM:609799 skos:exactMatch HGNC_symbol:NEK8 Unspecified NEK8 +OMIM:609799 skos:exactMatch UMLS:C1421969 Unspecified NEK8 +OMIM:609799 skos:exactMatch HGNC:13387 Unspecified NEK8 +OMIM:609798 skos:exactMatch HGNC_symbol:NEK9 Unspecified NEK9 +OMIM:609798 skos:exactMatch HGNC:18591 Unspecified NEK9 +OMIM:609798 skos:exactMatch UMLS:C1425629 Unspecified NEK9 +OMIM:607137 skos:exactMatch UMLS:C1415639 Unspecified HNRNPDL +OMIM:607137 skos:exactMatch HGNC:5037 Unspecified HNRNPDL +OMIM:607137 skos:exactMatch HGNC_symbol:HNRNPDL Unspecified HNRNPDL +OMIM:607118 skos:exactMatch UMLS:C1419695 Unspecified MRPL3 +OMIM:607118 skos:exactMatch HGNC:10379 Unspecified MRPL3 +OMIM:607118 skos:exactMatch HGNC_symbol:MRPL3 Unspecified MRPL3 +OMIM:607119 skos:exactMatch HGNC:13432 Unspecified RNF19A +OMIM:607119 skos:exactMatch HGNC_symbol:RNF19A Unspecified RNF19A +OMIM:607119 skos:exactMatch UMLS:C1421990 Unspecified RNF19A +OMIM:610768 skos:exactMatch UMLS:C1835849 Unspecified congenital disorder of glycosylation, iia im +OMIM:610767 skos:exactMatch HGNC_symbol:ATG16L1 Unspecified ATG16L1 +OMIM:610767 skos:exactMatch UMLS:C1825502 Unspecified ATG16L1 +OMIM:610767 skos:exactMatch HGNC:21498 Unspecified ATG16L1 +OMIM:610767 skos:exactMatch UMLS:C4310865 Unspecified ATG16L1 +OMIM:137035 skos:exactMatch UMLS:C1414945 Unspecified GAL +OMIM:137035 skos:exactMatch HGNC:4114 Unspecified GAL +OMIM:137035 skos:exactMatch HGNC_symbol:GAL Unspecified GAL +OMIM:610769 skos:exactMatch HGNC_symbol:NOC3L Unspecified NOC3L +OMIM:610769 skos:exactMatch UMLS:C1835848 Unspecified NOC3L +OMIM:610769 skos:exactMatch HGNC:24034 Unspecified NOC3L +OMIM:619101 skos:exactMatch UMLS:C5436817 Unspecified mismatch repair cancer syndrome 4 +OMIM:619101 skos:exactMatch ORPHA:252202 Unspecified mismatch repair cancer syndrome 4 +OMIM:610764 skos:exactMatch HGNC:16831 Unspecified BZRAP1 +OMIM:610764 skos:exactMatch HGNC_symbol:TSPOAP1 Unspecified BZRAP1 +OMIM:610764 skos:exactMatch UMLS:C1424579 Unspecified BZRAP1 +OMIM:619100 skos:exactMatch UMLS:C1824550 Unspecified CCDC25 +OMIM:619100 skos:exactMatch HGNC_symbol:CCDC25 Unspecified CCDC25 +OMIM:619100 skos:exactMatch HGNC:25591 Unspecified CCDC25 +OMIM:610763 skos:exactMatch HGNC:16140 Unspecified NANP +OMIM:610763 skos:exactMatch HGNC_symbol:NANP Unspecified NANP +OMIM:610763 skos:exactMatch UMLS:C1826346 Unspecified NANP +OMIM:610766 skos:exactMatch HGNC:29636 Unspecified MNS1 +OMIM:610766 skos:exactMatch HGNC_symbol:MNS1 Unspecified MNS1 +OMIM:610766 skos:exactMatch UMLS:C5394551 Unspecified MNS1 +OMIM:610766 skos:exactMatch UMLS:C1826263 Unspecified MNS1 +OMIM:619103 skos:exactMatch UMLS:C5436821 Unspecified neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities +OMIM:619102 skos:exactMatch ORPHA:399808 Unspecified spermatogenic failure 47 +OMIM:619102 skos:exactMatch UMLS:C5436818 Unspecified spermatogenic failure 47 +OMIM:610760 skos:exactMatch UMLS:C1853098 Unspecified cholesterol level quantitative trait locus 2 +OMIM:619105 skos:exactMatch HGNC_symbol:MIR30E Unspecified MIR30E +OMIM:619105 skos:exactMatch UMLS:C1537741 Unspecified MIR30E +OMIM:619105 skos:exactMatch HGNC:31629 Unspecified MIR30E +OMIM:619104 skos:exactMatch UMLS:C2239875 Unspecified RBM47 +OMIM:619104 skos:exactMatch HGNC_symbol:RBM47 Unspecified RBM47 +OMIM:619104 skos:exactMatch HGNC:30358 Unspecified RBM47 +OMIM:619107 skos:exactMatch HGNC_symbol:SNX33 Unspecified SNX33 +OMIM:619107 skos:exactMatch HGNC:28468 Unspecified SNX33 +OMIM:619107 skos:exactMatch UMLS:C1822710 Unspecified SNX33 +OMIM:610762 skos:exactMatch UMLS:C1853096 Unspecified high density lipoprotein cholesterol level quantitative trait locus 6 +OMIM:619106 skos:exactMatch HGNC:41151 Unspecified PRRT3AS1 +OMIM:619106 skos:exactMatch HGNC_symbol:PRRT3-AS1 Unspecified PRRT3AS1 +OMIM:619106 skos:exactMatch UMLS:C5436822 Unspecified PRRT3AS1 +OMIM:610761 skos:exactMatch UMLS:C1853097 Unspecified high density lipoprotein cholesterol level quantitative trait locus 5 +OMIM:609782 skos:exactMatch UMLS:C1853364 Unspecified aortic aneurysm, familial abdominal, 2 +OMIM:607120 skos:exactMatch UMLS:C3150988 Unspecified PLCB1 +OMIM:607120 skos:exactMatch HGNC_symbol:PLCB1 Unspecified PLCB1 +OMIM:607120 skos:exactMatch HGNC:15917 Unspecified PLCB1 +OMIM:607120 skos:exactMatch UMLS:C1423830 Unspecified PLCB1 +OMIM:609780 skos:exactMatch HGNC:14399 Unspecified CPVL +OMIM:609780 skos:exactMatch HGNC_symbol:CPVL Unspecified CPVL +OMIM:609780 skos:exactMatch UMLS:C1422620 Unspecified CPVL +OMIM:176610 skos:exactMatch HGNC:8881 Unspecified PFN1 +OMIM:176610 skos:exactMatch HGNC_symbol:PFN1 Unspecified PFN1 +OMIM:176610 skos:exactMatch UMLS:C1456390 Unspecified PFN1 +OMIM:150000 skos:exactMatch HGNC:6535 Unspecified LDHA +OMIM:150000 skos:exactMatch HGNC_symbol:LDHA Unspecified LDHA +OMIM:150000 skos:exactMatch UMLS:C1416811 Unspecified LDHA +OMIM:607123 skos:exactMatch UMLS:C1826705 Unspecified PROKR2 +OMIM:607123 skos:exactMatch HGNC_symbol:PROKR2 Unspecified PROKR2 +OMIM:607123 skos:exactMatch HGNC:15836 Unspecified PROKR2 +OMIM:609786 skos:exactMatch HGNC_symbol:GRHL1 Unspecified GRHL1 +OMIM:609786 skos:exactMatch UMLS:C1853361 Unspecified GRHL1 +OMIM:609786 skos:exactMatch HGNC:17923 Unspecified GRHL1 +OMIM:137040 skos:exactMatch UMLS:C0266251 Unspecified gallbladder, agenesis of +OMIM:609785 skos:exactMatch HGNC_symbol:TFCP2L1 Unspecified TFCP2L1 +OMIM:609785 skos:exactMatch HGNC:17925 Unspecified TFCP2L1 +OMIM:609785 skos:exactMatch UMLS:C1425181 Unspecified TFCP2L1 +OMIM:607124 skos:exactMatch HGNC:9228 Unspecified PLPP1 +OMIM:607124 skos:exactMatch UMLS:C1335236 Unspecified PLPP1 +OMIM:607124 skos:exactMatch HGNC_symbol:PLPP1 Unspecified PLPP1 +OMIM:609784 skos:exactMatch UMLS:C1421303 Unspecified UBP1 +OMIM:609784 skos:exactMatch HGNC_symbol:UBP1 Unspecified UBP1 +OMIM:609784 skos:exactMatch UMLS:C1853362 Unspecified UBP1 +OMIM:609784 skos:exactMatch HGNC:12507 Unspecified UBP1 +OMIM:607122 skos:exactMatch HGNC:4524 Unspecified PROKR1 +OMIM:607122 skos:exactMatch UMLS:C1826704 Unspecified PROKR1 +OMIM:607122 skos:exactMatch HGNC_symbol:PROKR1 Unspecified PROKR1 +OMIM:609783 skos:exactMatch HGNC:21449 Unspecified ITIH5 +OMIM:609783 skos:exactMatch UMLS:C1427561 Unspecified ITIH5 +OMIM:609783 skos:exactMatch HGNC_symbol:ITIH5 Unspecified ITIH5 +OMIM:607127 skos:exactMatch UMLS:C1825059 Unspecified ERC1 +OMIM:607127 skos:exactMatch HGNC:17072 Unspecified ERC1 +OMIM:607127 skos:exactMatch HGNC_symbol:ERC1 Unspecified ERC1 +OMIM:607127 skos:exactMatch UMLS:C1846724 Unspecified ERC1 +OMIM:607128 skos:exactMatch UMLS:C1423650 Unspecified TNKS2 +OMIM:607128 skos:exactMatch HGNC:15677 Unspecified TNKS2 +OMIM:607128 skos:exactMatch HGNC_symbol:TNKS2 Unspecified TNKS2 +OMIM:609789 skos:exactMatch HGNC_symbol:AQP12A Unspecified AQP12A +OMIM:609789 skos:exactMatch HGNC:19941 Unspecified AQP12A +OMIM:609789 skos:exactMatch UMLS:C1824099 Unspecified AQP12A +OMIM:607125 skos:exactMatch HGNC_symbol:PLPP3 Unspecified PLPP3 +OMIM:607125 skos:exactMatch UMLS:C1418774 Unspecified PLPP3 +OMIM:607125 skos:exactMatch HGNC:9229 Unspecified PLPP3 +OMIM:609788 skos:exactMatch HGNC:18868 Unspecified XRRA1 +OMIM:609788 skos:exactMatch HGNC_symbol:XRRA1 Unspecified XRRA1 +OMIM:609788 skos:exactMatch UMLS:C1425839 Unspecified XRRA1 +OMIM:609787 skos:exactMatch UMLS:C1421260 Unspecified UBAP1 +OMIM:609787 skos:exactMatch HGNC_symbol:UBAP1 Unspecified UBAP1 +OMIM:609787 skos:exactMatch HGNC:12461 Unspecified UBAP1 +OMIM:607126 skos:exactMatch HGNC_symbol:PLPP2 Unspecified PLPP2 +OMIM:607126 skos:exactMatch UMLS:C1418775 Unspecified PLPP2 +OMIM:607126 skos:exactMatch HGNC:9230 Unspecified PLPP2 +OMIM:607109 skos:exactMatch HGNC_symbol:APOBEC3A Unspecified APOBEC3A +OMIM:607109 skos:exactMatch UMLS:C1424917 Unspecified APOBEC3A +OMIM:607109 skos:exactMatch HGNC:17343 Unspecified APOBEC3A +OMIM:607107 skos:exactMatch UMLS:C1846758 Unspecified nasopharyngeal carcinoma +OMIM:607107 skos:exactMatch UMLS:C2931822 Unspecified nasopharyngeal carcinoma +OMIM:607108 skos:exactMatch HGNC:8620 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C4017070 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C4017065 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C4017066 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C4017067 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C3805349 Unspecified PAX6 +OMIM:607108 skos:exactMatch HGNC_symbol:PAX6 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C3805604 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C1833797 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C1833798 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C4017657 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C4310884 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C4310841 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C0009363 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C1418276 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C0155299 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C3554721 Unspecified PAX6 +OMIM:607108 skos:exactMatch UMLS:C0003076 Unspecified PAX6 +OMIM:609769 skos:exactMatch HGNC_symbol:SDR9C7 Unspecified SDR9C7 +OMIM:609769 skos:exactMatch UMLS:C1853366 Unspecified SDR9C7 +OMIM:609769 skos:exactMatch HGNC:29958 Unspecified SDR9C7 +OMIM:610757 skos:exactMatch HGNC_symbol:CCL4L2 Unspecified CCL4L2 +OMIM:610757 skos:exactMatch UMLS:C1824663 Unspecified CCL4L2 +OMIM:610757 skos:exactMatch HGNC:24066 Unspecified CCL4L2 +OMIM:162000 skos:exactMatch UMLS:C4551496 Unspecified tubulointerstitial kidney disease, autosomal dominant, 1 +OMIM:610756 skos:exactMatch UMLS:C1853102 Unspecified cerebrooculofacioskeletal syndrome 2 +OMIM:610759 skos:exactMatch UMLS:C1853099 Unspecified cornelia lange lange syndrome 3 with or without midline brain defects +OMIM:610759 skos:exactMatch ORPHA:199 Unspecified cornelia lange lange syndrome 3 with or without midline brain defects +OMIM:610758 skos:exactMatch UMLS:C1853100 Unspecified cerebrooculofacioskeletal syndrome 4 +OMIM:259440 skos:exactMatch UMLS:C1850169 Unspecified osteogenesis imperfecta, iia 9 +OMIM:610753 skos:exactMatch UMLS:C1853104 Unspecified alopecia areata 2 +OMIM:610752 skos:exactMatch HGNC:17223 Unspecified UST +OMIM:610752 skos:exactMatch UMLS:C1424835 Unspecified UST +OMIM:610752 skos:exactMatch HGNC_symbol:UST Unspecified UST +OMIM:610755 skos:exactMatch UMLS:C1970712 Unspecified multiple endocrine neoplasia, iia 4 +OMIM:610754 skos:exactMatch UMLS:C1823656 Unspecified WAPL +OMIM:610754 skos:exactMatch HGNC_symbol:WAPL Unspecified WAPL +OMIM:610754 skos:exactMatch HGNC:23293 Unspecified WAPL +OMIM:610751 skos:exactMatch HGNC_symbol:PRTFDC1 Unspecified PRTFDC1 +OMIM:610751 skos:exactMatch HGNC:23333 Unspecified PRTFDC1 +OMIM:610751 skos:exactMatch UMLS:C1428041 Unspecified PRTFDC1 +OMIM:610750 skos:exactMatch HGNC:29620 Unspecified ZCRB1 +OMIM:610750 skos:exactMatch UMLS:C1823938 Unspecified ZCRB1 +OMIM:610750 skos:exactMatch HGNC_symbol:ZCRB1 Unspecified ZCRB1 +OMIM:609771 skos:exactMatch UMLS:C1421302 Unspecified UBN1 +OMIM:609771 skos:exactMatch HGNC_symbol:UBN1 Unspecified UBN1 +OMIM:609771 skos:exactMatch HGNC:12506 Unspecified UBN1 +OMIM:609770 skos:exactMatch UMLS:C1426000 Unspecified JAML +OMIM:609770 skos:exactMatch HGNC_symbol:JAML Unspecified JAML +OMIM:609770 skos:exactMatch HGNC:19084 Unspecified JAML +OMIM:609775 skos:exactMatch HGNC_symbol:YIPF3 Unspecified YIPF3 +OMIM:609775 skos:exactMatch HGNC:21023 Unspecified YIPF3 +OMIM:609775 skos:exactMatch UMLS:C1823888 Unspecified YIPF3 +OMIM:607112 skos:exactMatch UMLS:C1422076 Unspecified FBXO2 +OMIM:607112 skos:exactMatch HGNC_symbol:FBXO2 Unspecified FBXO2 +OMIM:607112 skos:exactMatch HGNC:13581 Unspecified FBXO2 +OMIM:607113 skos:exactMatch UMLS:C1424930 Unspecified APOBEC3G +OMIM:607113 skos:exactMatch HGNC:17357 Unspecified APOBEC3G +OMIM:607113 skos:exactMatch HGNC_symbol:APOBEC3G Unspecified APOBEC3G +OMIM:609774 skos:exactMatch HGNC_symbol:API5 Unspecified API5 +OMIM:609774 skos:exactMatch HGNC:594 Unspecified API5 +OMIM:609774 skos:exactMatch UMLS:C1412463 Unspecified API5 +OMIM:176640 skos:exactMatch UMLS:C1418941 Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C4015968 Unspecified PRNP +OMIM:176640 skos:exactMatch HGNC_symbol:PRNP Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C1867751 Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C1867752 Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C0022336 Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C1864112 Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C0017495 Unspecified PRNP +OMIM:176640 skos:exactMatch HGNC:9449 Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C1847650 Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C3805618 Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C4016337 Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C4016338 Unspecified PRNP +OMIM:176640 skos:exactMatch UMLS:C0206042 Unspecified PRNP +OMIM:308940 skos:exactMatch UMLS:C1839884 Unspecified leiomyomatosis, diffuse, with alport syndrome +OMIM:609773 skos:exactMatch UMLS:C1825040 Unspecified EID2 +OMIM:609773 skos:exactMatch HGNC_symbol:EID2 Unspecified EID2 +OMIM:609773 skos:exactMatch HGNC:28292 Unspecified EID2 +OMIM:607110 skos:exactMatch UMLS:C1424925 Unspecified APOBEC3B +OMIM:607110 skos:exactMatch HGNC:17352 Unspecified APOBEC3B +OMIM:607110 skos:exactMatch HGNC_symbol:APOBEC3B Unspecified APOBEC3B +OMIM:607111 skos:exactMatch HGNC_symbol:SPART Unspecified SPART +OMIM:607111 skos:exactMatch HGNC:18514 Unspecified SPART +OMIM:607111 skos:exactMatch UMLS:C1425570 Unspecified SPART +OMIM:609772 skos:exactMatch HGNC_symbol:CTTNBP2 Unspecified CTTNBP2 +OMIM:609772 skos:exactMatch HGNC:15679 Unspecified CTTNBP2 +OMIM:609772 skos:exactMatch UMLS:C1423652 Unspecified CTTNBP2 +OMIM:607116 skos:exactMatch UMLS:C1846735 Unspecified alzheimer disease 8 +OMIM:609779 skos:exactMatch HGNC_symbol:NEK11 Unspecified NEK11 +OMIM:609779 skos:exactMatch HGNC:18593 Unspecified NEK11 +OMIM:609779 skos:exactMatch UMLS:C1425631 Unspecified NEK11 +OMIM:607117 skos:exactMatch HGNC:6954 Unspecified MCPH1 +OMIM:607117 skos:exactMatch UMLS:C1417075 Unspecified MCPH1 +OMIM:607117 skos:exactMatch UMLS:C1855081 Unspecified MCPH1 +OMIM:607117 skos:exactMatch HGNC_symbol:MCPH1 Unspecified MCPH1 +OMIM:609778 skos:exactMatch UMLS:C1422557 Unspecified XIRP2 +OMIM:609778 skos:exactMatch HGNC:14303 Unspecified XIRP2 +OMIM:609778 skos:exactMatch HGNC_symbol:XIRP2 Unspecified XIRP2 +OMIM:137050 skos:exactMatch UMLS:C1850934 Unspecified gamma-a-globulin, defect 1n assembly of +OMIM:609777 skos:exactMatch UMLS:C1422556 Unspecified XIRP1 +OMIM:609777 skos:exactMatch HGNC:14301 Unspecified XIRP1 +OMIM:609777 skos:exactMatch HGNC_symbol:XIRP1 Unspecified XIRP1 +OMIM:607114 skos:exactMatch UMLS:C1423517 Unspecified ADAM33 +OMIM:607114 skos:exactMatch HGNC:15478 Unspecified ADAM33 +OMIM:607114 skos:exactMatch HGNC_symbol:ADAM33 Unspecified ADAM33 +OMIM:609776 skos:exactMatch HGNC:23304 Unspecified PRAP1 +OMIM:609776 skos:exactMatch UMLS:C1538714 Unspecified PRAP1 +OMIM:609776 skos:exactMatch HGNC_symbol:PRAP1 Unspecified PRAP1 +OMIM:607115 skos:exactMatch UMLS:C0409818 Unspecified cinca syndrome +OMIM:610749 skos:exactMatch HGNC:21353 Unspecified KLHL31 +OMIM:610749 skos:exactMatch HGNC_symbol:KLHL31 Unspecified KLHL31 +OMIM:610749 skos:exactMatch UMLS:C1825732 Unspecified KLHL31 +OMIM:609759 skos:exactMatch HGNC_symbol:PRDM7 Unspecified PRDM7 +OMIM:609759 skos:exactMatch UMLS:C1418878 Unspecified PRDM7 +OMIM:609759 skos:exactMatch HGNC:9351 Unspecified PRDM7 +OMIM:609758 skos:exactMatch UMLS:C1424284 Unspecified NKAIN2 +OMIM:609758 skos:exactMatch HGNC_symbol:NKAIN2 Unspecified NKAIN2 +OMIM:609758 skos:exactMatch UMLS:C1857982 Unspecified NKAIN2 +OMIM:609758 skos:exactMatch HGNC:16443 Unspecified NKAIN2 +OMIM:610746 skos:exactMatch HGNC:23406 Unspecified DOLK +OMIM:610746 skos:exactMatch UMLS:C1428074 Unspecified DOLK +OMIM:610746 skos:exactMatch HGNC_symbol:DOLK Unspecified DOLK +OMIM:610745 skos:exactMatch UMLS:C1539887 Unspecified STRA6 +OMIM:610745 skos:exactMatch HGNC:30650 Unspecified STRA6 +OMIM:610745 skos:exactMatch HGNC_symbol:STRA6 Unspecified STRA6 +OMIM:610748 skos:exactMatch HGNC:12625 Unspecified USP28 +OMIM:610748 skos:exactMatch UMLS:C1421403 Unspecified USP28 +OMIM:610748 skos:exactMatch HGNC_symbol:USP28 Unspecified USP28 +OMIM:610747 skos:exactMatch HGNC:23023 Unspecified SAMD4A +OMIM:610747 skos:exactMatch HGNC_symbol:SAMD4A Unspecified SAMD4A +OMIM:610747 skos:exactMatch UMLS:C1826968 Unspecified SAMD4A +OMIM:610742 skos:exactMatch UMLS:C1417230 Unspecified MOV10 +OMIM:610742 skos:exactMatch HGNC:7200 Unspecified MOV10 +OMIM:610742 skos:exactMatch HGNC_symbol:MOV10 Unspecified MOV10 +OMIM:259450 skos:exactMatch UMLS:C1850168 Unspecified bruck syndrome 1 +OMIM:610741 skos:exactMatch UMLS:C1540037 Unspecified TNRC6C +OMIM:610741 skos:exactMatch HGNC:29318 Unspecified TNRC6C +OMIM:610741 skos:exactMatch HGNC_symbol:TNRC6C Unspecified TNRC6C +OMIM:610744 skos:exactMatch UMLS:C1853115 Unspecified iris pattern +OMIM:610743 skos:exactMatch UMLS:C1853116 Unspecified spinocerebellar ataxia, autosomal recessive 8 +OMIM:610743 skos:exactMatch ORPHA:88644 Unspecified spinocerebellar ataxia, autosomal recessive 8 +OMIM:610740 skos:exactMatch UMLS:C1540036 Unspecified TNRC6B +OMIM:610740 skos:exactMatch HGNC:29190 Unspecified TNRC6B +OMIM:610740 skos:exactMatch HGNC_symbol:TNRC6B Unspecified TNRC6B +OMIM:176635 skos:exactMatch HGNC_symbol:PRIM1 Unspecified PRIM1 +OMIM:176635 skos:exactMatch HGNC:9369 Unspecified PRIM1 +OMIM:176635 skos:exactMatch UMLS:C1335259 Unspecified PRIM1 +OMIM:176636 skos:exactMatch HGNC_symbol:PRIM2 Unspecified PRIM2A +OMIM:176636 skos:exactMatch UMLS:C1418894 Unspecified PRIM2A +OMIM:176636 skos:exactMatch HGNC:9370 Unspecified PRIM2A +OMIM:609760 skos:exactMatch HGNC:13994 Unspecified PRDM9 +OMIM:609760 skos:exactMatch UMLS:C1422331 Unspecified PRDM9 +OMIM:609760 skos:exactMatch HGNC_symbol:PRDM9 Unspecified PRDM9 +OMIM:176630 skos:exactMatch UMLS:C1867770 Unspecified primary release disorder of platelets +OMIM:607101 skos:exactMatch UMLS:C1846784 Unspecified deafness, autosomal recessive 30 +OMIM:609764 skos:exactMatch HGNC_symbol:KDM4A Unspecified KDM4A +OMIM:609764 skos:exactMatch HGNC:22978 Unspecified KDM4A +OMIM:609764 skos:exactMatch UMLS:C1427830 Unspecified KDM4A +OMIM:607102 skos:exactMatch HGNC:12796 Unspecified WT1 +OMIM:607102 skos:exactMatch HGNC_symbol:WT1 Unspecified WT1 +OMIM:607102 skos:exactMatch UMLS:C3274610 Unspecified WT1 +OMIM:607102 skos:exactMatch UMLS:C0694898 Unspecified WT1 +OMIM:609763 skos:exactMatch UMLS:C1857831 Unspecified PI4K2A +OMIM:609763 skos:exactMatch HGNC:30031 Unspecified PI4K2A +OMIM:609763 skos:exactMatch HGNC_symbol:PI4K2A Unspecified PI4K2A +OMIM:609762 skos:exactMatch UMLS:C1538326 Unspecified BLOC1S3 +OMIM:609762 skos:exactMatch HGNC_symbol:BLOC1S3 Unspecified BLOC1S3 +OMIM:609762 skos:exactMatch HGNC:20914 Unspecified BLOC1S3 +OMIM:607100 skos:exactMatch HGNC:7905 Unspecified NPHP1 +OMIM:607100 skos:exactMatch UMLS:C1417782 Unspecified NPHP1 +OMIM:607100 skos:exactMatch HGNC_symbol:NPHP1 Unspecified NPHP1 +OMIM:609761 skos:exactMatch HGNC:17009 Unspecified TRIOBP +OMIM:609761 skos:exactMatch UMLS:C1823497 Unspecified TRIOBP +OMIM:609761 skos:exactMatch HGNC_symbol:TRIOBP Unspecified TRIOBP +OMIM:308950 skos:exactMatch UMLS:C1839883 Unspecified lesch-nyhan phenotype with normal hgprt +OMIM:607105 skos:exactMatch HGNC:7890 Unspecified NOX3 +OMIM:607105 skos:exactMatch UMLS:C1417770 Unspecified NOX3 +OMIM:607105 skos:exactMatch HGNC_symbol:NOX3 Unspecified NOX3 +OMIM:609768 skos:exactMatch UMLS:C1538325 Unspecified BLOC1S2 +OMIM:609768 skos:exactMatch HGNC_symbol:BLOC1S2 Unspecified BLOC1S2 +OMIM:609768 skos:exactMatch HGNC:20984 Unspecified BLOC1S2 +OMIM:607106 skos:exactMatch UMLS:C1424276 Unspecified HM13 +OMIM:607106 skos:exactMatch HGNC_symbol:HM13 Unspecified HM13 +OMIM:607106 skos:exactMatch HGNC:16435 Unspecified HM13 +OMIM:609767 skos:exactMatch HGNC_symbol:SLC25A28 Unspecified SLC25A28 +OMIM:609767 skos:exactMatch HGNC:23472 Unspecified SLC25A28 +OMIM:609767 skos:exactMatch UMLS:C1428089 Unspecified SLC25A28 +OMIM:607103 skos:exactMatch UMLS:C1412614 Unspecified ATE1 +OMIM:607103 skos:exactMatch HGNC_symbol:ATE1 Unspecified ATE1 +OMIM:607103 skos:exactMatch HGNC:782 Unspecified ATE1 +OMIM:609766 skos:exactMatch HGNC:25498 Unspecified KDM4D +OMIM:609766 skos:exactMatch HGNC_symbol:KDM4D Unspecified KDM4D +OMIM:609766 skos:exactMatch UMLS:C1428494 Unspecified KDM4D +OMIM:609765 skos:exactMatch HGNC:29136 Unspecified KDM4B +OMIM:609765 skos:exactMatch HGNC_symbol:KDM4B Unspecified KDM4B +OMIM:609765 skos:exactMatch UMLS:C1428797 Unspecified KDM4B +OMIM:607104 skos:exactMatch UMLS:C1425997 Unspecified TNKS1BP1 +OMIM:607104 skos:exactMatch HGNC_symbol:TNKS1BP1 Unspecified TNKS1BP1 +OMIM:607104 skos:exactMatch HGNC:19081 Unspecified TNKS1BP1 +OMIM:137060 skos:exactMatch HGNC:924 Unspecified B4GALT1 +OMIM:137060 skos:exactMatch HGNC_symbol:B4GALT1 Unspecified B4GALT1 +OMIM:137060 skos:exactMatch UMLS:C1412719 Unspecified B4GALT1 +OMIM:619152 skos:exactMatch HGNC_symbol:TBC1D2B Unspecified TBC1D2B +OMIM:619152 skos:exactMatch HGNC:29183 Unspecified TBC1D2B +OMIM:211480 skos:exactMatch UMLS:C0040021 Unspecified buerger disease +OMIM:619154 skos:exactMatch HGNC_symbol:LRRC47 Unspecified LRRC47 +OMIM:619154 skos:exactMatch HGNC:29207 Unspecified LRRC47 +OMIM:619153 skos:exactMatch HGNC_symbol:SLC25A51 Unspecified SLC25A51 +OMIM:619153 skos:exactMatch HGNC:23323 Unspecified SLC25A51 +OMIM:619156 skos:exactMatch HGNC_symbol:DNAI4 Unspecified DNAI4 +OMIM:619156 skos:exactMatch HGNC:26252 Unspecified DNAI4 +OMIM:247430 skos:exactMatch UMLS:C1855476 Unspecified lymphoblastic transformation, inhibition of +OMIM:164680 skos:exactMatch UMLS:C1833997 Unspecified onychogryposis, pedal, with keratosis plantaris and coarse hair +OMIM:619158 skos:exactMatch HGNC_symbol:PIK3IP1 Unspecified PIK3IP1 +OMIM:619158 skos:exactMatch HGNC:24942 Unspecified PIK3IP1 +OMIM:162020 skos:exactMatch UMLS:C3887786 Unspecified +OMIM:619159 skos:exactMatch HGNC:1816 Unspecified CEACAM4 +OMIM:619159 skos:exactMatch HGNC_symbol:CEACAM4 Unspecified CEACAM4 +OMIM:607170 skos:exactMatch HGNC:14630 Unspecified CRELD1 +OMIM:607170 skos:exactMatch UMLS:C1422802 Unspecified CRELD1 +OMIM:607170 skos:exactMatch HGNC_symbol:CRELD1 Unspecified CRELD1 +OMIM:607171 skos:exactMatch HGNC_symbol:CRELD2 Unspecified None +OMIM:607171 skos:exactMatch HGNC:28150 Unspecified None +OMIM:607171 skos:exactMatch UMLS:C1824790 Unspecified None +OMIM:607174 skos:exactMatch UMLS:C3551915 Unspecified meningioma, familial, susceptibility to +OMIM:607175 skos:exactMatch UMLS:C1425168 Unspecified DUSP16 +OMIM:607175 skos:exactMatch HGNC_symbol:DUSP16 Unspecified DUSP16 +OMIM:607175 skos:exactMatch HGNC:17909 Unspecified DUSP16 +OMIM:259410 skos:exactMatch UMLS:C1850184 Unspecified osteogenesis imperfecta congenita, microcephaly, and cataracts +OMIM:607172 skos:exactMatch HGNC:19184 Unspecified STK11IP +OMIM:607172 skos:exactMatch UMLS:C1426073 Unspecified STK11IP +OMIM:607172 skos:exactMatch HGNC_symbol:STK11IP Unspecified STK11IP +OMIM:607173 skos:exactMatch UMLS:C1424617 Unspecified PSMD14 +OMIM:607173 skos:exactMatch HGNC:16889 Unspecified PSMD14 +OMIM:607173 skos:exactMatch HGNC_symbol:PSMD14 Unspecified PSMD14 +OMIM:607178 skos:exactMatch HGNC:16887 Unspecified PDZK1IP1 +OMIM:607178 skos:exactMatch HGNC_symbol:PDZK1IP1 Unspecified PDZK1IP1 +OMIM:607178 skos:exactMatch UMLS:C1538615 Unspecified PDZK1IP1 +OMIM:607179 skos:exactMatch HGNC:9898 Unspecified RBM12 +OMIM:607179 skos:exactMatch HGNC_symbol:RBM12 Unspecified RBM12 +OMIM:607179 skos:exactMatch UMLS:C1419298 Unspecified RBM12 +OMIM:607176 skos:exactMatch HGNC:13248 Unspecified CALN1 +OMIM:607176 skos:exactMatch HGNC_symbol:CALN1 Unspecified CALN1 +OMIM:607176 skos:exactMatch UMLS:C1421903 Unspecified CALN1 +OMIM:174000 skos:exactMatch UMLS:C1868139 Unspecified tubulointerstitial kidney disease, autosomal dominant, 2 +OMIM:152690 skos:exactMatch UMLS:C1823878 Unspecified XRCC6 +OMIM:152690 skos:exactMatch HGNC:4055 Unspecified XRCC6 +OMIM:152690 skos:exactMatch HGNC_symbol:XRCC6 Unspecified XRCC6 +OMIM:607177 skos:exactMatch UMLS:C1415885 Unspecified IER5 +OMIM:607177 skos:exactMatch HGNC_symbol:IER5 Unspecified IER5 +OMIM:607177 skos:exactMatch HGNC:5393 Unspecified IER5 +OMIM:137070 skos:exactMatch UMLS:C1842675 Unspecified FUS +OMIM:137070 skos:exactMatch HGNC_symbol:FUS Unspecified FUS +OMIM:137070 skos:exactMatch UMLS:C2750729 Unspecified FUS +OMIM:137070 skos:exactMatch UMLS:C1414860 Unspecified FUS +OMIM:137070 skos:exactMatch UMLS:C4016110 Unspecified FUS +OMIM:137070 skos:exactMatch UMLS:C3539195 Unspecified FUS +OMIM:137070 skos:exactMatch HGNC:4010 Unspecified FUS +OMIM:619140 skos:exactMatch HGNC:29852 Unspecified N4BP3 +OMIM:619140 skos:exactMatch HGNC_symbol:N4BP3 Unspecified N4BP3 +OMIM:619140 skos:exactMatch UMLS:C3148457 Unspecified N4BP3 +OMIM:619143 skos:exactMatch UMLS:C5436886 Unspecified cardioacrofacial dysplasia 2 +OMIM:619142 skos:exactMatch UMLS:C5436885 Unspecified cardioacrofacial dysplasia 1 +OMIM:619145 skos:exactMatch ORPHA:399808 Unspecified spermatogenic failure 50 +OMIM:619145 skos:exactMatch UMLS:C5436888 Unspecified spermatogenic failure 50 +OMIM:619144 skos:exactMatch ORPHA:399808 Unspecified spermatogenic failure 49 +OMIM:619144 skos:exactMatch UMLS:C5436887 Unspecified spermatogenic failure 49 +OMIM:162010 skos:exactMatch HGNC_symbol:NGFR Unspecified NGFR +OMIM:162010 skos:exactMatch UMLS:C1334879 Unspecified NGFR +OMIM:162010 skos:exactMatch HGNC:7809 Unspecified NGFR +OMIM:619146 skos:exactMatch UMLS:C5436889 Unspecified premature ovarian failure 17 +OMIM:260400 skos:exactMatch UMLS:C0272170 Unspecified shwachman-diamond syndrome 1 +OMIM:260400 skos:exactMatch ORPHA:811 Unspecified shwachman-diamond syndrome 1 +OMIM:260400 skos:exactMatch UMLS:C4692625 Unspecified shwachman-diamond syndrome 1 +OMIM:186000 skos:exactMatch UMLS:C2699746 Unspecified synpolydactyly 1 +OMIM:607160 skos:exactMatch HGNC:16832 Unspecified ATP6V1F +OMIM:607160 skos:exactMatch UMLS:C1424580 Unspecified ATP6V1F +OMIM:607160 skos:exactMatch HGNC_symbol:ATP6V1F Unspecified ATP6V1F +OMIM:607163 skos:exactMatch HGNC_symbol:LOXL3 Unspecified LOXL3 +OMIM:607163 skos:exactMatch HGNC:13869 Unspecified LOXL3 +OMIM:607163 skos:exactMatch UMLS:C1422244 Unspecified LOXL3 +OMIM:607164 skos:exactMatch HGNC:15525 Unspecified LBX2 +OMIM:607164 skos:exactMatch UMLS:C1423555 Unspecified LBX2 +OMIM:607164 skos:exactMatch HGNC_symbol:LBX2 Unspecified LBX2 +OMIM:259420 skos:exactMatch UMLS:C0268362 Unspecified osteogenesis imperfecta, iia 3 +OMIM:607161 skos:exactMatch UMLS:C1846671 Unspecified multiple congenital anomalies syndrome with cloverleaf skull +OMIM:607162 skos:exactMatch UMLS:C1539877 Unspecified ST8SIA5 +OMIM:607162 skos:exactMatch HGNC_symbol:ST8SIA5 Unspecified ST8SIA5 +OMIM:607162 skos:exactMatch HGNC:17827 Unspecified ST8SIA5 +OMIM:247450 skos:exactMatch UMLS:C1855474 Unspecified lymphoblastic transformation, intrinsic defect 1n +OMIM:607167 skos:exactMatch HGNC:15468 Unspecified DYNLRB1 +OMIM:607167 skos:exactMatch HGNC_symbol:DYNLRB1 Unspecified DYNLRB1 +OMIM:607167 skos:exactMatch UMLS:C1825016 Unspecified DYNLRB1 +OMIM:607168 skos:exactMatch HGNC:15467 Unspecified DYNLRB2 +OMIM:607168 skos:exactMatch HGNC_symbol:DYNLRB2 Unspecified DYNLRB2 +OMIM:607168 skos:exactMatch UMLS:C1825017 Unspecified DYNLRB2 +OMIM:607165 skos:exactMatch UMLS:C1822681 Unspecified SERINC3 +OMIM:607165 skos:exactMatch HGNC_symbol:SERINC3 Unspecified SERINC3 +OMIM:607165 skos:exactMatch HGNC:11699 Unspecified SERINC3 +OMIM:607166 skos:exactMatch HGNC_symbol:TSGA10 Unspecified TSGA10 +OMIM:607166 skos:exactMatch UMLS:C1423060 Unspecified TSGA10 +OMIM:607166 skos:exactMatch HGNC:14927 Unspecified TSGA10 +OMIM:607169 skos:exactMatch HGNC:9480 Unspecified PRSS16 +OMIM:607169 skos:exactMatch HGNC_symbol:PRSS16 Unspecified PRSS16 +OMIM:607169 skos:exactMatch UMLS:C1418969 Unspecified PRSS16 +OMIM:619130 skos:exactMatch ORPHA:466806 Unspecified thrombocytopenia 7 +OMIM:619130 skos:exactMatch UMLS:C5436874 Unspecified thrombocytopenia 7 +OMIM:619131 skos:exactMatch ORPHA:666 Unspecified osteogenesis imperfecta, iia 21 +OMIM:619131 skos:exactMatch UMLS:C5436875 Unspecified osteogenesis imperfecta, iia 21 +OMIM:619134 skos:exactMatch HGNC:21067 Unspecified SMYD4 +OMIM:619134 skos:exactMatch UMLS:C1427288 Unspecified SMYD4 +OMIM:619134 skos:exactMatch HGNC_symbol:SMYD4 Unspecified SMYD4 +OMIM:610797 skos:exactMatch UMLS:C1835830 Unspecified epiphyseal dysplasia, baumann iia +OMIM:610796 skos:exactMatch HGNC_symbol:SLC25A31 Unspecified SLC25A31 +OMIM:610796 skos:exactMatch HGNC:25319 Unspecified SLC25A31 +OMIM:610796 skos:exactMatch UMLS:C1539785 Unspecified SLC25A31 +OMIM:619136 skos:exactMatch UMLS:C1427053 Unspecified SLC37A2 +OMIM:619136 skos:exactMatch HGNC:20644 Unspecified SLC37A2 +OMIM:619136 skos:exactMatch HGNC_symbol:SLC37A2 Unspecified SLC37A2 +OMIM:619135 skos:exactMatch UMLS:C5436883 Unspecified ritscher-schinzel syndrome 3 +OMIM:619135 skos:exactMatch ORPHA:7 Unspecified ritscher-schinzel syndrome 3 +OMIM:610798 skos:exactMatch UMLS:C1835829 Unspecified immunodeficiency due to defect 1n mapbp-interacting protein +OMIM:247410 skos:exactMatch UMLS:C1855477 Unspecified lymphedema-hypoparathyroidism syndrome +OMIM:610793 skos:exactMatch HGNC_symbol:SLC25A30 Unspecified SLC25A30 +OMIM:610793 skos:exactMatch UMLS:C1539784 Unspecified SLC25A30 +OMIM:610793 skos:exactMatch HGNC:27371 Unspecified SLC25A30 +OMIM:619138 skos:exactMatch HGNC:29850 Unspecified N4BP1 +OMIM:619138 skos:exactMatch HGNC_symbol:N4BP1 Unspecified N4BP1 +OMIM:619138 skos:exactMatch UMLS:C2239766 Unspecified N4BP1 +OMIM:619137 skos:exactMatch UMLS:C1427059 Unspecified SLC37A3 +OMIM:619137 skos:exactMatch HGNC:20651 Unspecified SLC37A3 +OMIM:619137 skos:exactMatch HGNC_symbol:SLC37A3 Unspecified SLC37A3 +OMIM:610792 skos:exactMatch HGNC_symbol:SLC22A25 Unspecified SLC22A25 +OMIM:610792 skos:exactMatch HGNC:32935 Unspecified SLC22A25 +OMIM:610792 skos:exactMatch UMLS:C1835834 Unspecified SLC22A25 +OMIM:610795 skos:exactMatch HGNC:30907 Unspecified SORBS3 +OMIM:610795 skos:exactMatch HGNC_symbol:SORBS3 Unspecified SORBS3 +OMIM:610795 skos:exactMatch UMLS:C1823081 Unspecified SORBS3 +OMIM:619139 skos:exactMatch HGNC:29851 Unspecified N4BP2 +OMIM:619139 skos:exactMatch HGNC_symbol:N4BP2 Unspecified N4BP2 +OMIM:619139 skos:exactMatch UMLS:C2239767 Unspecified N4BP2 +OMIM:610794 skos:exactMatch UMLS:C1422403 Unspecified ZNF323 +OMIM:610794 skos:exactMatch HGNC_symbol:ZSCAN31 Unspecified ZNF323 +OMIM:610794 skos:exactMatch HGNC:14097 Unspecified ZNF323 +OMIM:607152 skos:exactMatch UMLS:C1846685 Unspecified spastic paraplegia 19, autosomal dominant +OMIM:607153 skos:exactMatch HGNC_symbol:ITGB1BP1 Unspecified ITGB1BP1 +OMIM:607153 skos:exactMatch HGNC:23927 Unspecified ITGB1BP1 +OMIM:607153 skos:exactMatch UMLS:C1428333 Unspecified ITGB1BP1 +OMIM:607150 skos:exactMatch HGNC_symbol:FEV Unspecified FEV +OMIM:607150 skos:exactMatch UMLS:C1851464 Unspecified FEV +OMIM:607150 skos:exactMatch UMLS:C1425602 Unspecified FEV +OMIM:607150 skos:exactMatch HGNC:18562 Unspecified FEV +OMIM:607151 skos:exactMatch UMLS:C1846689 Unspecified moyamoya disease 2 +OMIM:607151 skos:exactMatch ORPHA:2573 Unspecified moyamoya disease 2 +OMIM:607156 skos:exactMatch UMLS:C1539864 Unspecified ST3GAL6 +OMIM:607156 skos:exactMatch HGNC:18080 Unspecified ST3GAL6 +OMIM:607156 skos:exactMatch HGNC_symbol:ST3GAL6 Unspecified ST3GAL6 +OMIM:607157 skos:exactMatch HGNC:15622 Unspecified SIGLEC11 +OMIM:607157 skos:exactMatch UMLS:C1423627 Unspecified SIGLEC11 +OMIM:607157 skos:exactMatch HGNC_symbol:SIGLEC11 Unspecified SIGLEC11 +OMIM:607154 skos:exactMatch UMLS:C2607914 Unspecified allergic rhinitis +OMIM:607155 skos:exactMatch ORPHA:34515 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 +OMIM:607155 skos:exactMatch UMLS:C1846672 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 +OMIM:607158 skos:exactMatch HGNC_symbol:VENTX Unspecified VENTX +OMIM:607158 skos:exactMatch UMLS:C1823620 Unspecified VENTX +OMIM:607158 skos:exactMatch HGNC:13639 Unspecified VENTX +OMIM:607159 skos:exactMatch HGNC:16493 Unspecified ZMIZ1 +OMIM:607159 skos:exactMatch UMLS:C1823956 Unspecified ZMIZ1 +OMIM:607159 skos:exactMatch HGNC_symbol:ZMIZ1 Unspecified ZMIZ1 +OMIM:607159 skos:exactMatch UMLS:C5231448 Unspecified ZMIZ1 +OMIM:610789 skos:exactMatch HGNC_symbol:PDRG1 Unspecified PDRG1 +OMIM:610789 skos:exactMatch UMLS:C1538614 Unspecified PDRG1 +OMIM:610789 skos:exactMatch HGNC:16119 Unspecified PDRG1 +OMIM:619121 skos:exactMatch UMLS:C5436848 Unspecified neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities +OMIM:619120 skos:exactMatch UMLS:C5436847 Unspecified combined osteogenesis imperfecta and ehlers-danlos syndrome 2 +OMIM:162030 skos:exactMatch HGNC_symbol:NGF Unspecified NGF +OMIM:162030 skos:exactMatch HGNC:7808 Unspecified NGF +OMIM:162030 skos:exactMatch UMLS:C1417719 Unspecified NGF +OMIM:619123 skos:exactMatch UMLS:C5436852 Unspecified cardiofacioneurodevelopmental syndrome +OMIM:610786 skos:exactMatch UMLS:C1835838 Unspecified SRCIN1 +OMIM:610786 skos:exactMatch HGNC_symbol:SRCIN1 Unspecified SRCIN1 +OMIM:610786 skos:exactMatch HGNC:29506 Unspecified SRCIN1 +OMIM:619122 skos:exactMatch UMLS:C5436851 Unspecified vertebral hypersegmentation and orofacial anomalies +OMIM:610785 skos:exactMatch HGNC_symbol:PDIK1L Unspecified PDIK1L +OMIM:610785 skos:exactMatch UMLS:C1538612 Unspecified PDIK1L +OMIM:610785 skos:exactMatch HGNC:18981 Unspecified PDIK1L +OMIM:247420 skos:exactMatch UMLS:C1292230 Unspecified lutheran null +OMIM:619125 skos:exactMatch UMLS:C5436856 Unspecified kaya-barakat-masson syndrome +OMIM:610788 skos:exactMatch HGNC:16872 Unspecified SLC35B2 +OMIM:610788 skos:exactMatch UMLS:C1835836 Unspecified SLC35B2 +OMIM:610788 skos:exactMatch HGNC_symbol:SLC35B2 Unspecified SLC35B2 +OMIM:619124 skos:exactMatch UMLS:C5436853 Unspecified developmental and epileptic encephalopathy 89 +OMIM:619124 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 89 +OMIM:610787 skos:exactMatch UMLS:C1835837 Unspecified PRAC2 +OMIM:610787 skos:exactMatch HGNC:30143 Unspecified PRAC2 +OMIM:610787 skos:exactMatch HGNC_symbol:PRAC2 Unspecified PRAC2 +OMIM:610782 skos:exactMatch UMLS:C1835841 Unspecified MIR29A +OMIM:610782 skos:exactMatch HGNC:31616 Unspecified MIR29A +OMIM:610782 skos:exactMatch HGNC_symbol:MIR29A Unspecified MIR29A +OMIM:619127 skos:exactMatch UMLS:C5436867 Unspecified mandibuloacral dysplasia progeroid syndrome +OMIM:164690 skos:exactMatch HGNC:77 Unspecified ABL2 +OMIM:164690 skos:exactMatch HGNC_symbol:ABL2 Unspecified ABL2 +OMIM:164690 skos:exactMatch UMLS:C0812381 Unspecified ABL2 +OMIM:610781 skos:exactMatch HGNC:4377 Unspecified GMPR2 +OMIM:610781 skos:exactMatch HGNC_symbol:GMPR2 Unspecified GMPR2 +OMIM:610781 skos:exactMatch UMLS:C1415136 Unspecified GMPR2 +OMIM:619126 skos:exactMatch UMLS:C5436860 Unspecified immunodeficiency 75 +OMIM:610784 skos:exactMatch UMLS:C1835839 Unspecified MIR29C +OMIM:610784 skos:exactMatch HGNC:31621 Unspecified MIR29C +OMIM:610784 skos:exactMatch HGNC_symbol:MIR29C Unspecified MIR29C +OMIM:619129 skos:exactMatch UMLS:C5436887 Unspecified CFAP58 +OMIM:619129 skos:exactMatch HGNC_symbol:CFAP58 Unspecified CFAP58 +OMIM:619129 skos:exactMatch UMLS:C1428618 Unspecified CFAP58 +OMIM:619129 skos:exactMatch HGNC:26676 Unspecified CFAP58 +OMIM:610783 skos:exactMatch UMLS:C1835840 Unspecified MIR29B1 +OMIM:610783 skos:exactMatch HGNC:31619 Unspecified MIR29B1 +OMIM:610783 skos:exactMatch HGNC_symbol:MIR29B1 Unspecified MIR29B1 +OMIM:619128 skos:exactMatch UMLS:C1825556 Unspecified HYI +OMIM:619128 skos:exactMatch HGNC_symbol:HYI Unspecified HYI +OMIM:619128 skos:exactMatch HGNC:26948 Unspecified HYI +OMIM:619119 skos:exactMatch UMLS:C1540218 Unspecified ATP13A5 +OMIM:619119 skos:exactMatch HGNC:31789 Unspecified ATP13A5 +OMIM:619119 skos:exactMatch HGNC_symbol:ATP13A5 Unspecified ATP13A5 +OMIM:610791 skos:exactMatch HGNC_symbol:SLC43A2 Unspecified SLC43A2 +OMIM:610791 skos:exactMatch UMLS:C1539786 Unspecified SLC43A2 +OMIM:610791 skos:exactMatch HGNC:23087 Unspecified SLC43A2 +OMIM:610790 skos:exactMatch HGNC_symbol:SLC35B1 Unspecified SLC35B1 +OMIM:610790 skos:exactMatch UMLS:C1427131 Unspecified SLC35B1 +OMIM:610790 skos:exactMatch HGNC:20798 Unspecified SLC35B1 +OMIM:607141 skos:exactMatch UMLS:C1425234 Unspecified GLIPR2 +OMIM:607141 skos:exactMatch HGNC_symbol:GLIPR2 Unspecified GLIPR2 +OMIM:607141 skos:exactMatch HGNC:18007 Unspecified GLIPR2 +OMIM:607140 skos:exactMatch UMLS:C0002982 Unspecified angioid streaks +OMIM:607145 skos:exactMatch UMLS:C3279756 Unspecified DTNBP1 +OMIM:607145 skos:exactMatch HGNC:17328 Unspecified DTNBP1 +OMIM:607145 skos:exactMatch UMLS:C1424906 Unspecified DTNBP1 +OMIM:607145 skos:exactMatch HGNC_symbol:DTNBP1 Unspecified DTNBP1 +OMIM:176670 skos:exactMatch UMLS:C0033300 Unspecified hutchinson-gilford progeria syndrome +OMIM:176670 skos:exactMatch UMLS:C2750285 Unspecified hutchinson-gilford progeria syndrome +OMIM:607146 skos:exactMatch UMLS:C1826564 Unspecified PDZD3 +OMIM:607146 skos:exactMatch HGNC_symbol:PDZD3 Unspecified PDZD3 +OMIM:607146 skos:exactMatch HGNC:19891 Unspecified PDZD3 +OMIM:607143 skos:exactMatch ORPHA:79324 Unspecified congenital disorder of glycosylation, iia ig +OMIM:607143 skos:exactMatch UMLS:C2931001 Unspecified congenital disorder of glycosylation, iia ig +OMIM:607144 skos:exactMatch UMLS:C2931001 Unspecified ALG12 +OMIM:607144 skos:exactMatch UMLS:C1426190 Unspecified ALG12 +OMIM:607144 skos:exactMatch HGNC:19358 Unspecified ALG12 +OMIM:607144 skos:exactMatch HGNC_symbol:ALG12 Unspecified ALG12 +OMIM:607149 skos:exactMatch HGNC:17851 Unspecified REXO2 +OMIM:607149 skos:exactMatch HGNC_symbol:REXO2 Unspecified REXO2 +OMIM:607149 skos:exactMatch UMLS:C1846690 Unspecified REXO2 +OMIM:607147 skos:exactMatch HGNC:17664 Unspecified NECTIN3 +OMIM:607147 skos:exactMatch HGNC_symbol:NECTIN3 Unspecified NECTIN3 +OMIM:607147 skos:exactMatch UMLS:C1425031 Unspecified NECTIN3 +OMIM:308990 skos:exactMatch UMLS:C1839874 Unspecified proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +OMIM:619071 skos:exactMatch UMLS:C5436730 Unspecified leukodystrophy, hypomyelinating, 20 +OMIM:619070 skos:exactMatch UMLS:C1537567 Unspecified LETMD1 +OMIM:619070 skos:exactMatch HGNC_symbol:LETMD1 Unspecified LETMD1 +OMIM:619070 skos:exactMatch HGNC:24241 Unspecified LETMD1 +OMIM:619073 skos:exactMatch UMLS:C5436733 Unspecified vitamin d-dependent rickets, iia 3 +OMIM:619073 skos:exactMatch ORPHA:93160 Unspecified vitamin d-dependent rickets, iia 3 +OMIM:619072 skos:exactMatch UMLS:C5436732 Unspecified neurodevelopmental disorder with seizures and brain atrophy +OMIM:619075 skos:exactMatch UMLS:C5436741 Unspecified bachmann-bupp syndrome +OMIM:619074 skos:exactMatch UMLS:C5436739 Unspecified cleft palate, proliferative retinopathy, and developmental delay +OMIM:619077 skos:exactMatch HGNC_symbol:HSPA4L Unspecified HSPA4L +OMIM:619077 skos:exactMatch UMLS:C1537386 Unspecified HSPA4L +OMIM:619077 skos:exactMatch HGNC:17041 Unspecified HSPA4L +OMIM:619076 skos:exactMatch UMLS:C5436747 Unspecified neurodevelopmental disorder with microcephaly, seizures, and brain atrophy +OMIM:619079 skos:exactMatch UMLS:C5436750 Unspecified inflammatory bowel disease (crohn disease) 30 +OMIM:619078 skos:exactMatch HGNC:19008 Unspecified KLHL11 +OMIM:619078 skos:exactMatch HGNC_symbol:KLHL11 Unspecified KLHL11 +OMIM:619078 skos:exactMatch UMLS:C1425947 Unspecified KLHL11 +OMIM:607090 skos:exactMatch UMLS:C1823161 Unspecified SYF2 +OMIM:607090 skos:exactMatch HGNC_symbol:SYF2 Unspecified SYF2 +OMIM:607090 skos:exactMatch HGNC:19824 Unspecified SYF2 +OMIM:188570 skos:exactMatch UMLS:C2937288 Unspecified thyroid hormone resistance, generalized, autosomal dominant +OMIM:607093 skos:exactMatch HGNC:7436 Unspecified MTHFR +OMIM:607093 skos:exactMatch UMLS:C0919427 Unspecified MTHFR +OMIM:607093 skos:exactMatch HGNC_symbol:MTHFR Unspecified MTHFR +OMIM:607094 skos:exactMatch HGNC_symbol:SOCS5 Unspecified SOCS5 +OMIM:607094 skos:exactMatch HGNC:16852 Unspecified SOCS5 +OMIM:607094 skos:exactMatch UMLS:C1424593 Unspecified SOCS5 +OMIM:607091 skos:exactMatch UMLS:C2931009 Unspecified congenital disorder of glycosylation, iia iid +OMIM:607092 skos:exactMatch HGNC:18859 Unspecified SPHK2 +OMIM:607092 skos:exactMatch UMLS:C1425830 Unspecified SPHK2 +OMIM:607092 skos:exactMatch HGNC_symbol:SPHK2 Unspecified SPHK2 +OMIM:607097 skos:exactMatch HGNC:18120 Unspecified None +OMIM:607097 skos:exactMatch HGNC_symbol:SLC22A11 Unspecified None +OMIM:607097 skos:exactMatch UMLS:C1425326 Unspecified None +OMIM:607098 skos:exactMatch UMLS:C1846791 Unspecified enolase alpha, lung-specific +OMIM:607095 skos:exactMatch ORPHA:93347 Unspecified anauxetic dysplasia 1 +OMIM:607095 skos:exactMatch UMLS:C1846796 Unspecified anauxetic dysplasia 1 +OMIM:607095 skos:exactMatch UMLS:C4551965 Unspecified anauxetic dysplasia 1 +OMIM:607096 skos:exactMatch HGNC_symbol:SLC22A12 Unspecified SLC22A12 +OMIM:607096 skos:exactMatch HGNC:17989 Unspecified SLC22A12 +OMIM:607096 skos:exactMatch UMLS:C1425219 Unspecified SLC22A12 +OMIM:607099 skos:exactMatch UMLS:C1826255 Unspecified HINFP +OMIM:607099 skos:exactMatch HGNC:17850 Unspecified HINFP +OMIM:607099 skos:exactMatch HGNC_symbol:HINFP Unspecified HINFP +OMIM:235400 skos:exactMatch UMLS:C1856143 Unspecified hemolytic uremic syndrome, atypical, susceptibility to, 1 +OMIM:235400 skos:exactMatch UMLS:C2749604 Unspecified hemolytic uremic syndrome, atypical, susceptibility to, 1 +OMIM:619060 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 16 +OMIM:619060 skos:exactMatch UMLS:C5436714 Unspecified mitochondrial complex 4 deficiency, nuclear iia 16 +OMIM:619062 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 18 +OMIM:619062 skos:exactMatch UMLS:C5436720 Unspecified mitochondrial complex 4 deficiency, nuclear iia 18 +OMIM:619061 skos:exactMatch UMLS:C5436718 Unspecified mitochondrial complex 4 deficiency, nuclear iia 17 +OMIM:619061 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 17 +OMIM:619064 skos:exactMatch UMLS:C5436726 Unspecified mitochondrial complex 4 deficiency, nuclear iia 20 +OMIM:619064 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 20 +OMIM:619063 skos:exactMatch UMLS:C5436723 Unspecified mitochondrial complex 4 deficiency, nuclear iia 19 +OMIM:619063 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 19 +OMIM:619066 skos:exactMatch HGNC:30940 Unspecified ZNF532 +OMIM:619066 skos:exactMatch UMLS:C1429015 Unspecified ZNF532 +OMIM:619066 skos:exactMatch UMLS:C5436729 Unspecified ZNF532 +OMIM:619066 skos:exactMatch HGNC_symbol:ZNF532 Unspecified ZNF532 +OMIM:619065 skos:exactMatch UMLS:C5436727 Unspecified mitochondrial complex 4 deficiency, nuclear iia 21 +OMIM:619065 skos:exactMatch ORPHA:70472 Unspecified mitochondrial complex 4 deficiency, nuclear iia 21 +OMIM:619068 skos:exactMatch HGNC_symbol:LRRC19 Unspecified LRRC19 +OMIM:619068 skos:exactMatch HGNC:23379 Unspecified LRRC19 +OMIM:619068 skos:exactMatch UMLS:C1428058 Unspecified LRRC19 +OMIM:619067 skos:exactMatch UMLS:C1537382 Unspecified HSDL1 +OMIM:619067 skos:exactMatch HGNC_symbol:HSDL1 Unspecified HSDL1 +OMIM:619067 skos:exactMatch HGNC:16475 Unspecified HSDL1 +OMIM:619069 skos:exactMatch UMLS:C1539444 Unspecified TENT5B +OMIM:619069 skos:exactMatch HGNC_symbol:TENT5B Unspecified TENT5B +OMIM:619069 skos:exactMatch HGNC:28273 Unspecified TENT5B +OMIM:188580 skos:exactMatch UMLS:C2749982 Unspecified thyrotoxic periodic paralysis, susceptibility to, 1 +OMIM:607082 skos:exactMatch HGNC_symbol:CACNA2D2 Unspecified CACNA2D2 +OMIM:607082 skos:exactMatch HGNC:1400 Unspecified CACNA2D2 +OMIM:607082 skos:exactMatch UMLS:C1413066 Unspecified CACNA2D2 +OMIM:607083 skos:exactMatch HGNC:12767 Unspecified NSD3 +OMIM:607083 skos:exactMatch UMLS:C1421506 Unspecified NSD3 +OMIM:607083 skos:exactMatch HGNC_symbol:NSD3 Unspecified NSD3 +OMIM:607083 skos:exactMatch UMLS:C1846840 Unspecified NSD3 +OMIM:607080 skos:exactMatch ORPHA:168563 Unspecified 46,xy gonadal dysgenesis with minifascicular neuropathy +OMIM:607080 skos:exactMatch UMLS:C5436061 Unspecified 46,xy gonadal dysgenesis with minifascicular neuropathy +OMIM:607081 skos:exactMatch HGNC_symbol:TAPBPL Unspecified TAPBPL +OMIM:607081 skos:exactMatch HGNC:30683 Unspecified TAPBPL +OMIM:607081 skos:exactMatch UMLS:C1539925 Unspecified TAPBPL +OMIM:607086 skos:exactMatch UMLS:C0345050 Unspecified aortic aneurysm, familial thoracic 1 +OMIM:607086 skos:exactMatch UMLS:C0392775 Unspecified aortic aneurysm, familial thoracic 1 +OMIM:607087 skos:exactMatch UMLS:C1846837 Unspecified aortic aneurysm, familial thoracic 2 +OMIM:607084 skos:exactMatch UMLS:C1846839 Unspecified deafness, autosomal recessive 31 +OMIM:607085 skos:exactMatch UMLS:C1846838 Unspecified myasthenia gravis with thymus hyperplasia +OMIM:607088 skos:exactMatch UMLS:C1846823 Unspecified spinal muscular atrophy, distal, autosomal recessive, 3 +OMIM:607089 skos:exactMatch HGNC_symbol:CCNDBP1 Unspecified CCNDBP1 +OMIM:607089 skos:exactMatch HGNC:1587 Unspecified CCNDBP1 +OMIM:607089 skos:exactMatch UMLS:C1413177 Unspecified CCNDBP1 +OMIM:619051 skos:exactMatch UMLS:C5436685 Unspecified mitochondrial complex 4 deficiency, nuclear iia 7 +OMIM:619051 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 7 +OMIM:619050 skos:exactMatch HGNC:21359 Unspecified HMGCLL1 +OMIM:619050 skos:exactMatch UMLS:C1427507 Unspecified HMGCLL1 +OMIM:619050 skos:exactMatch HGNC_symbol:HMGCLL1 Unspecified HMGCLL1 +OMIM:619053 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 10 +OMIM:619053 skos:exactMatch UMLS:C5436692 Unspecified mitochondrial complex 4 deficiency, nuclear iia 10 +OMIM:619052 skos:exactMatch UMLS:C5436689 Unspecified mitochondrial complex 4 deficiency, nuclear iia 8 +OMIM:619052 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 8 +OMIM:619055 skos:exactMatch UMLS:C5436695 Unspecified mitochondrial complex 4 deficiency, nuclear iia 12 +OMIM:619055 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 12 +OMIM:619054 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 11 +OMIM:619054 skos:exactMatch UMLS:C5436694 Unspecified mitochondrial complex 4 deficiency, nuclear iia 11 +OMIM:188550 skos:exactMatch UMLS:C0238463 Unspecified thyroid cancer, nonmedullary, 1 +OMIM:188550 skos:exactMatch UMLS:C4721429 Unspecified thyroid cancer, nonmedullary, 1 +OMIM:619057 skos:exactMatch UMLS:C5436703 Unspecified combined oxidative phosphorylation deficiency 51 +OMIM:619056 skos:exactMatch UMLS:C5436699 Unspecified neurodevelopmental disorder with speech impairment and dysmorphic facies +OMIM:619059 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 15 +OMIM:619059 skos:exactMatch UMLS:C5436712 Unspecified mitochondrial complex 4 deficiency, nuclear iia 15 +OMIM:619058 skos:exactMatch UMLS:C5436710 Unspecified mitochondrial complex 4 deficiency, nuclear iia 14 +OMIM:619058 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 14 +OMIM:607071 skos:exactMatch HGNC:5320 Unspecified HYAL1 +OMIM:607071 skos:exactMatch UMLS:C1415825 Unspecified HYAL1 +OMIM:607071 skos:exactMatch HGNC_symbol:HYAL1 Unspecified HYAL1 +OMIM:607072 skos:exactMatch HGNC_symbol:NPRL2 Unspecified NPRL2 +OMIM:607072 skos:exactMatch HGNC:24969 Unspecified NPRL2 +OMIM:607072 skos:exactMatch UMLS:C1428434 Unspecified NPRL2 +OMIM:607070 skos:exactMatch HGNC:19412 Unspecified ZMYND10 +OMIM:607070 skos:exactMatch UMLS:C1426228 Unspecified ZMYND10 +OMIM:607070 skos:exactMatch HGNC_symbol:ZMYND10 Unspecified ZMYND10 +OMIM:607075 skos:exactMatch UMLS:C1422804 Unspecified PDAP1 +OMIM:607075 skos:exactMatch HGNC_symbol:PDAP1 Unspecified PDAP1 +OMIM:607075 skos:exactMatch HGNC:14634 Unspecified PDAP1 +OMIM:607076 skos:exactMatch HGNC_symbol:PI15 Unspecified PI15 +OMIM:607076 skos:exactMatch UMLS:C1418548 Unspecified PI15 +OMIM:607076 skos:exactMatch HGNC:8946 Unspecified PI15 +OMIM:607073 skos:exactMatch UMLS:C1538043 Unspecified NAA80 +OMIM:607073 skos:exactMatch HGNC_symbol:NAA80 Unspecified NAA80 +OMIM:607073 skos:exactMatch HGNC:30252 Unspecified NAA80 +OMIM:607074 skos:exactMatch HGNC_symbol:PRKD2 Unspecified PRKD2 +OMIM:607074 skos:exactMatch UMLS:C1538717 Unspecified PRKD2 +OMIM:607074 skos:exactMatch HGNC:17293 Unspecified PRKD2 +OMIM:607079 skos:exactMatch HGNC_symbol:RHBG Unspecified RHBG +OMIM:607079 skos:exactMatch HGNC:14572 Unspecified RHBG +OMIM:607079 skos:exactMatch UMLS:C1422764 Unspecified RHBG +OMIM:211450 skos:exactMatch UMLS:C0264353 Unspecified williams-campbell syndrome +OMIM:607077 skos:exactMatch HGNC_symbol:PRKD3 Unspecified PRKCN +OMIM:607077 skos:exactMatch UMLS:C1538718 Unspecified PRKCN +OMIM:607077 skos:exactMatch HGNC:9408 Unspecified PRKCN +OMIM:607078 skos:exactMatch UMLS:C1846843 Unspecified epiphyseal dysplasia, multiple, 5 +OMIM:619040 skos:exactMatch UMLS:C5436656 Unspecified myofibrillar myopathy 10 +OMIM:619042 skos:exactMatch UMLS:C5436669 Unspecified spinal muscular atrophy, infantile, james iia +OMIM:619041 skos:exactMatch ORPHA:495930 Unspecified monosomy 7 myelodysplasia and leukemia syndrome 2 +OMIM:619041 skos:exactMatch UMLS:C5436668 Unspecified monosomy 7 myelodysplasia and leukemia syndrome 2 +OMIM:619044 skos:exactMatch UMLS:C5436678 Unspecified spermatogenic failure 44 +OMIM:619044 skos:exactMatch ORPHA:399808 Unspecified spermatogenic failure 44 +OMIM:619043 skos:exactMatch HGNC:14645 Unspecified IPPK +OMIM:619043 skos:exactMatch HGNC_symbol:IPPK Unspecified IPPK +OMIM:619043 skos:exactMatch UMLS:C1825614 Unspecified IPPK +OMIM:619046 skos:exactMatch UMLS:C5436682 Unspecified mitochondrial complex 4 deficiency, nuclear iia 3 +OMIM:619046 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 3 +OMIM:619045 skos:exactMatch UMLS:C1539752 Unspecified SERHL2 +OMIM:619045 skos:exactMatch HGNC_symbol:SERHL2 Unspecified SERHL2 +OMIM:619045 skos:exactMatch HGNC:29446 Unspecified SERHL2 +OMIM:619048 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 4 +OMIM:619048 skos:exactMatch UMLS:C5436683 Unspecified mitochondrial complex 4 deficiency, nuclear iia 4 +OMIM:619047 skos:exactMatch HGNC:28869 Unspecified PPP1R32 +OMIM:619047 skos:exactMatch UMLS:C3471436 Unspecified PPP1R32 +OMIM:619047 skos:exactMatch HGNC_symbol:PPP1R32 Unspecified PPP1R32 +OMIM:619049 skos:exactMatch HGNC:26951 Unspecified TDRP +OMIM:619049 skos:exactMatch UMLS:C1824251 Unspecified TDRP +OMIM:619049 skos:exactMatch HGNC_symbol:TDRP Unspecified TDRP +OMIM:188560 skos:exactMatch UMLS:C1861101 Unspecified thyroid hormone plasma membrane transport defect +OMIM:607060 skos:exactMatch UMLS:C1846862 Unspecified parkinson disease 8, autosomal dominant +OMIM:607061 skos:exactMatch UMLS:C1846861 Unspecified PTGES3 +OMIM:607061 skos:exactMatch HGNC:16049 Unspecified PTGES3 +OMIM:607061 skos:exactMatch HGNC_symbol:PTGES3 Unspecified PTGES3 +OMIM:607064 skos:exactMatch UMLS:C1418384 Unspecified PCOLCE2 +OMIM:607064 skos:exactMatch HGNC_symbol:PCOLCE2 Unspecified PCOLCE2 +OMIM:607064 skos:exactMatch HGNC:8739 Unspecified PCOLCE2 +OMIM:607065 skos:exactMatch UMLS:C1419183 Unspecified QPCT +OMIM:607065 skos:exactMatch HGNC_symbol:QPCT Unspecified QPCT +OMIM:607065 skos:exactMatch HGNC:9753 Unspecified QPCT +OMIM:607062 skos:exactMatch HGNC:3723 Unspecified FKBP7 +OMIM:607062 skos:exactMatch UMLS:C1414629 Unspecified FKBP7 +OMIM:607062 skos:exactMatch HGNC_symbol:FKBP7 Unspecified FKBP7 +OMIM:607063 skos:exactMatch HGNC_symbol:FKBP10 Unspecified FKBP10 +OMIM:607063 skos:exactMatch HGNC:18169 Unspecified FKBP10 +OMIM:607063 skos:exactMatch UMLS:C1425359 Unspecified FKBP10 +OMIM:607068 skos:exactMatch HGNC:30253 Unspecified CYB561D2 +OMIM:607068 skos:exactMatch UMLS:C1539198 Unspecified CYB561D2 +OMIM:607068 skos:exactMatch HGNC_symbol:CYB561D2 Unspecified CYB561D2 +OMIM:607069 skos:exactMatch HGNC:30055 Unspecified TMEM115 +OMIM:607069 skos:exactMatch HGNC_symbol:TMEM115 Unspecified TMEM115 +OMIM:607069 skos:exactMatch UMLS:C1823376 Unspecified TMEM115 +OMIM:607066 skos:exactMatch HGNC:18084 Unspecified TRPV3 +OMIM:607066 skos:exactMatch HGNC_symbol:TRPV3 Unspecified TRPV3 +OMIM:607066 skos:exactMatch UMLS:C1425292 Unspecified TRPV3 +OMIM:607067 skos:exactMatch UMLS:C1846860 Unspecified None +OMIM:607067 skos:exactMatch HGNC_symbol:STH Unspecified None +OMIM:607067 skos:exactMatch HGNC:18839 Unspecified None +OMIM:176590 skos:exactMatch HGNC_symbol:PFN2 Unspecified PFN2 +OMIM:176590 skos:exactMatch UMLS:C1418495 Unspecified PFN2 +OMIM:176590 skos:exactMatch HGNC:8882 Unspecified PFN2 +OMIM:211400 skos:exactMatch UMLS:C2749757 Unspecified bronchiectasis with or without elevated sweat chloride 1 +OMIM:619093 skos:exactMatch UMLS:C5436789 Unspecified deafness, autosomal recessive 116 +OMIM:619092 skos:exactMatch UMLS:C5436788 Unspecified neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities +OMIM:619095 skos:exactMatch UMLS:C5436799 Unspecified spermatogenic failure 46 +OMIM:619095 skos:exactMatch ORPHA:399808 Unspecified spermatogenic failure 46 +OMIM:619094 skos:exactMatch UMLS:C5436791 Unspecified spermatogenic failure 45 +OMIM:619094 skos:exactMatch ORPHA:399808 Unspecified spermatogenic failure 45 +OMIM:619097 skos:exactMatch UMLS:C5436807 Unspecified mismatch repair cancer syndrome 3 +OMIM:619097 skos:exactMatch ORPHA:252202 Unspecified mismatch repair cancer syndrome 3 +OMIM:619096 skos:exactMatch ORPHA:252202 Unspecified mismatch repair cancer syndrome 2 +OMIM:619096 skos:exactMatch UMLS:C5436806 Unspecified mismatch repair cancer syndrome 2 +OMIM:619099 skos:exactMatch UMLS:C5436813 Unspecified intellectual developmental disorder with speech delay and axonal peripheral neuropathy +OMIM:619099 skos:exactMatch ORPHA:528084 Unspecified intellectual developmental disorder with speech delay and axonal peripheral neuropathy +OMIM:619098 skos:exactMatch UMLS:C2240259 Unspecified M1AP +OMIM:619098 skos:exactMatch UMLS:C5436823 Unspecified M1AP +OMIM:619098 skos:exactMatch HGNC_symbol:M1AP Unspecified M1AP +OMIM:619098 skos:exactMatch HGNC:25183 Unspecified M1AP +OMIM:188595 skos:exactMatch HGNC:11722 Unspecified TEF +OMIM:188595 skos:exactMatch UMLS:C1420685 Unspecified TEF +OMIM:188595 skos:exactMatch HGNC_symbol:TEF Unspecified TEF +OMIM:223400 skos:exactMatch UMLS:C0266174 Unspecified duodenal atresia +OMIM:619091 skos:exactMatch UMLS:C5436783 Unspecified neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities +OMIM:619082 skos:exactMatch UMLS:C5436769 Unspecified microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 +OMIM:619081 skos:exactMatch UMLS:C5436768 Unspecified deafness, autosomal dominant 78 +OMIM:619081 skos:exactMatch ORPHA:90635 Unspecified deafness, autosomal dominant 78 +OMIM:619084 skos:exactMatch HGNC:18334 Unspecified TIGD3 +OMIM:619084 skos:exactMatch HGNC_symbol:TIGD3 Unspecified TIGD3 +OMIM:619084 skos:exactMatch UMLS:C1425454 Unspecified TIGD3 +OMIM:619083 skos:exactMatch UMLS:C5436771 Unspecified delpire-mcneill syndrome +OMIM:619083 skos:exactMatch ORPHA:528084 Unspecified delpire-mcneill syndrome +OMIM:619086 skos:exactMatch UMLS:C5436772 Unspecified deafness, autosomal dominant 79 +OMIM:619085 skos:exactMatch HGNC:51126 Unspecified PRANCR +OMIM:619085 skos:exactMatch UMLS:C5240597 Unspecified PRANCR +OMIM:619085 skos:exactMatch HGNC_symbol:PRANCR Unspecified PRANCR +OMIM:619088 skos:exactMatch UMLS:C2240287 Unspecified NUGGC +OMIM:619088 skos:exactMatch HGNC:33550 Unspecified NUGGC +OMIM:619088 skos:exactMatch HGNC_symbol:NUGGC Unspecified NUGGC +OMIM:619087 skos:exactMatch ORPHA:648 Unspecified noonan syndrome 13 +OMIM:619087 skos:exactMatch UMLS:C5436773 Unspecified noonan syndrome 13 +OMIM:619089 skos:exactMatch HGNC:18177 Unspecified GIPC2 +OMIM:619089 skos:exactMatch UMLS:C1825352 Unspecified GIPC2 +OMIM:619089 skos:exactMatch HGNC_symbol:GIPC2 Unspecified GIPC2 +OMIM:125050 skos:exactMatch UMLS:C1852279 Unspecified deafness with anhidrotic ectodermal dysplasia +OMIM:619080 skos:exactMatch UMLS:C5436756 Unspecified kilquist syndrome +OMIM:125000 skos:exactMatch UMLS:C2607947 Unspecified deafness, unilateral +OMIM:113000 skos:exactMatch ORPHA:572385 Unspecified brachydactyly, iia b1 +OMIM:113000 skos:exactMatch ORPHA:93383 Unspecified brachydactyly, iia b1 +OMIM:113000 skos:exactMatch UMLS:C1862112 Unspecified brachydactyly, iia b1 +OMIM:115660 skos:exactMatch UMLS:C0344523 Unspecified cataract 7 +OMIM:115665 skos:exactMatch UMLS:C1861833 Unspecified cataract 8, multiple types +OMIM:115650 skos:exactMatch UMLS:C1857718 Unspecified cataract 32, multiple types +OMIM:115650 skos:exactMatch UMLS:C1855179 Unspecified cataract 32, multiple types +OMIM:115650 skos:exactMatch UMLS:C3887926 Unspecified cataract 32, multiple types +OMIM:101000 skos:exactMatch UMLS:C0027832 Unspecified neurofibromatosis, iia 2 +OMIM:101000 skos:exactMatch UMLS:C1136042 Unspecified neurofibromatosis, iia 2 +OMIM:115645 skos:exactMatch UMLS:C1861835 Unspecified cataract, aberrant oral frenula, and growth retardation +OMIM:609827 skos:exactMatch UMLS:C1826566 Unspecified PELI3 +OMIM:609827 skos:exactMatch HGNC:30010 Unspecified PELI3 +OMIM:609827 skos:exactMatch HGNC_symbol:PELI3 Unspecified PELI3 +OMIM:610816 skos:exactMatch HGNC:29681 Unspecified SLC25A33 +OMIM:610816 skos:exactMatch UMLS:C1822743 Unspecified SLC25A33 +OMIM:610816 skos:exactMatch HGNC_symbol:SLC25A33 Unspecified SLC25A33 +OMIM:609826 skos:exactMatch HGNC:20305 Unspecified SLC34A3 +OMIM:609826 skos:exactMatch UMLS:C1426845 Unspecified SLC34A3 +OMIM:609826 skos:exactMatch HGNC_symbol:SLC34A3 Unspecified SLC34A3 +OMIM:609825 skos:exactMatch UMLS:C1824776 Unspecified COQ2 +OMIM:609825 skos:exactMatch HGNC_symbol:COQ2 Unspecified COQ2 +OMIM:609825 skos:exactMatch HGNC:25223 Unspecified COQ2 +OMIM:610818 skos:exactMatch UMLS:C1822745 Unspecified SLC25A35 +OMIM:610818 skos:exactMatch HGNC:31921 Unspecified SLC25A35 +OMIM:610818 skos:exactMatch HGNC_symbol:SLC25A35 Unspecified SLC25A35 +OMIM:609824 skos:exactMatch HGNC:25245 Unspecified HORMAD1 +OMIM:609824 skos:exactMatch UMLS:C1539674 Unspecified HORMAD1 +OMIM:609824 skos:exactMatch HGNC_symbol:HORMAD1 Unspecified HORMAD1 +OMIM:610817 skos:exactMatch HGNC:27653 Unspecified SLC25A34 +OMIM:610817 skos:exactMatch UMLS:C1822744 Unspecified SLC25A34 +OMIM:610817 skos:exactMatch HGNC_symbol:SLC25A34 Unspecified SLC25A34 +OMIM:610812 skos:exactMatch UMLS:C1426196 Unspecified HYDIN +OMIM:610812 skos:exactMatch HGNC_symbol:HYDIN Unspecified HYDIN +OMIM:610812 skos:exactMatch HGNC:19368 Unspecified HYDIN +OMIM:610811 skos:exactMatch HGNC_symbol:TBC1D3H Unspecified TBC1D3H +OMIM:610811 skos:exactMatch HGNC:30708 Unspecified TBC1D3H +OMIM:610811 skos:exactMatch UMLS:C1823237 Unspecified TBC1D3H +OMIM:609829 skos:exactMatch UMLS:C1825321 Unspecified FSD1NL +OMIM:609829 skos:exactMatch HGNC_symbol:FSD1L Unspecified FSD1NL +OMIM:609829 skos:exactMatch HGNC:13753 Unspecified FSD1NL +OMIM:610813 skos:exactMatch HGNC_symbol:HYDIN2 Unspecified HYDIN2 +OMIM:610813 skos:exactMatch UMLS:C1825555 Unspecified HYDIN2 +OMIM:610813 skos:exactMatch HGNC:33129 Unspecified HYDIN2 +OMIM:609828 skos:exactMatch UMLS:C1422180 Unspecified FSD1 +OMIM:609828 skos:exactMatch HGNC_symbol:FSD1 Unspecified FSD1 +OMIM:609828 skos:exactMatch HGNC:13745 Unspecified FSD1 +OMIM:610810 skos:exactMatch HGNC:29860 Unspecified TBC1D3G +OMIM:610810 skos:exactMatch HGNC_symbol:TBC1D3G Unspecified TBC1D3G +OMIM:610810 skos:exactMatch UMLS:C1823236 Unspecified TBC1D3G +OMIM:609834 skos:exactMatch HGNC:10762 Unspecified SETMAR +OMIM:609834 skos:exactMatch HGNC_symbol:SETMAR Unspecified SETMAR +OMIM:609834 skos:exactMatch UMLS:C1419974 Unspecified SETMAR +OMIM:609833 skos:exactMatch UMLS:C1853261 Unspecified SLC47A2 +OMIM:609833 skos:exactMatch HGNC:26439 Unspecified SLC47A2 +OMIM:609833 skos:exactMatch HGNC_symbol:SLC47A2 Unspecified SLC47A2 +OMIM:610819 skos:exactMatch HGNC:26054 Unspecified SLC25A38 +OMIM:610819 skos:exactMatch UMLS:C1822747 Unspecified SLC25A38 +OMIM:610819 skos:exactMatch HGNC_symbol:SLC25A38 Unspecified SLC25A38 +OMIM:609832 skos:exactMatch UMLS:C1853262 Unspecified SLC47A1 +OMIM:609832 skos:exactMatch HGNC_symbol:SLC47A1 Unspecified SLC47A1 +OMIM:609832 skos:exactMatch HGNC:25588 Unspecified SLC47A1 +OMIM:609831 skos:exactMatch HGNC_symbol:MMACHC Unspecified MMACHC +OMIM:609831 skos:exactMatch HGNC:24525 Unspecified MMACHC +OMIM:609831 skos:exactMatch UMLS:C1826260 Unspecified MMACHC +OMIM:609816 skos:exactMatch UMLS:C1538044 Unspecified NBEAL1 +OMIM:609816 skos:exactMatch HGNC_symbol:NBEAL1 Unspecified NBEAL1 +OMIM:609816 skos:exactMatch HGNC:20681 Unspecified NBEAL1 +OMIM:610805 skos:exactMatch UMLS:C1835826 Unspecified congenital anomalies of kidney and urinary tract 1 +OMIM:609815 skos:exactMatch UMLS:C1853294 Unspecified zygodactyly 1 +OMIM:610804 skos:exactMatch UMLS:C1427133 Unspecified SLC35D1 +OMIM:610804 skos:exactMatch HGNC:20800 Unspecified SLC35D1 +OMIM:610804 skos:exactMatch HGNC_symbol:SLC35D1 Unspecified SLC35D1 +OMIM:609814 skos:exactMatch UMLS:C0398777 Unspecified complement factor h deficiency +OMIM:610807 skos:exactMatch UMLS:C1823233 Unspecified TBC1D3D +OMIM:610807 skos:exactMatch HGNC:28944 Unspecified TBC1D3D +OMIM:610807 skos:exactMatch HGNC_symbol:TBC1D3D Unspecified TBC1D3D +OMIM:609813 skos:exactMatch UMLS:C1853296 Unspecified spondylocostal dysostosis 3, autosomal recessive +OMIM:610806 skos:exactMatch UMLS:C1823232 Unspecified TBC1D3C +OMIM:610806 skos:exactMatch HGNC_symbol:TBC1D3C Unspecified TBC1D3C +OMIM:610806 skos:exactMatch HGNC:24889 Unspecified TBC1D3C +OMIM:610801 skos:exactMatch UMLS:C1426238 Unspecified SLC41A1 +OMIM:610801 skos:exactMatch HGNC_symbol:SLC41A1 Unspecified SLC41A1 +OMIM:610801 skos:exactMatch HGNC:19429 Unspecified SLC41A1 +OMIM:609819 skos:exactMatch HGNC:30591 Unspecified PRAC1 +OMIM:609819 skos:exactMatch UMLS:C1853292 Unspecified PRAC1 +OMIM:609819 skos:exactMatch HGNC_symbol:PRAC1 Unspecified PRAC1 +OMIM:610800 skos:exactMatch HGNC:20315 Unspecified ATG10 +OMIM:610800 skos:exactMatch HGNC_symbol:ATG10 Unspecified ATG10 +OMIM:610800 skos:exactMatch UMLS:C1825501 Unspecified ATG10 +OMIM:609818 skos:exactMatch HGNC:12608 Unspecified USP10 +OMIM:609818 skos:exactMatch UMLS:C1421387 Unspecified USP10 +OMIM:609818 skos:exactMatch HGNC_symbol:USP10 Unspecified USP10 +OMIM:610803 skos:exactMatch HGNC:31046 Unspecified SLC41A3 +OMIM:610803 skos:exactMatch HGNC_symbol:SLC41A3 Unspecified SLC41A3 +OMIM:610803 skos:exactMatch UMLS:C1429060 Unspecified SLC41A3 +OMIM:609817 skos:exactMatch UMLS:C1853293 Unspecified vasculitis, lymphocytic, cutaneous small vessel +OMIM:610802 skos:exactMatch HGNC:31045 Unspecified SLC41A2 +OMIM:610802 skos:exactMatch HGNC_symbol:SLC41A2 Unspecified SLC41A2 +OMIM:610802 skos:exactMatch UMLS:C1429059 Unspecified SLC41A2 +OMIM:152700 skos:exactMatch UMLS:C0024141 Unspecified systemic lupus erythematosus +OMIM:610809 skos:exactMatch HGNC:18257 Unspecified TBC1D3F +OMIM:610809 skos:exactMatch UMLS:C1823235 Unspecified TBC1D3F +OMIM:610809 skos:exactMatch HGNC_symbol:TBC1D3F Unspecified TBC1D3F +OMIM:609823 skos:exactMatch UMLS:C1853276 Unspecified deafness, autosomal recessive 28 +OMIM:609822 skos:exactMatch UMLS:C1853277 Unspecified stature quantitative trait locus 7 +OMIM:610808 skos:exactMatch UMLS:C1823234 Unspecified TBC1D3E +OMIM:610808 skos:exactMatch HGNC:27071 Unspecified TBC1D3E +OMIM:610808 skos:exactMatch HGNC_symbol:TBC1D3E Unspecified TBC1D3E +OMIM:609821 skos:exactMatch UMLS:C1853278 Unspecified bleeding disorder, platelet-type, 8 +OMIM:609820 skos:exactMatch UMLS:C1853286 Unspecified erythrocytosis, familial, 3 +OMIM:609805 skos:exactMatch HGNC:30614 Unspecified SPATA19 +OMIM:609805 skos:exactMatch HGNC_symbol:SPATA19 Unspecified SPATA19 +OMIM:609805 skos:exactMatch UMLS:C1823090 Unspecified SPATA19 +OMIM:609804 skos:exactMatch UMLS:C1423941 Unspecified CFAP52 +OMIM:609804 skos:exactMatch HGNC_symbol:CFAP52 Unspecified CFAP52 +OMIM:609804 skos:exactMatch HGNC:16053 Unspecified CFAP52 +OMIM:609803 skos:exactMatch HGNC_symbol:ANKAR Unspecified ANKAR +OMIM:609803 skos:exactMatch UMLS:C1823662 Unspecified ANKAR +OMIM:609803 skos:exactMatch HGNC:26350 Unspecified ANKAR +OMIM:609802 skos:exactMatch HGNC_symbol:SLC24A5 Unspecified SLC24A5 +OMIM:609802 skos:exactMatch UMLS:C1427030 Unspecified SLC24A5 +OMIM:609802 skos:exactMatch HGNC:20611 Unspecified SLC24A5 +OMIM:164700 skos:exactMatch UMLS:C1833995 Unspecified +OMIM:609809 skos:exactMatch HGNC_symbol:LIME1 Unspecified LIME1 +OMIM:609809 skos:exactMatch UMLS:C1537573 Unspecified LIME1 +OMIM:609809 skos:exactMatch HGNC:26016 Unspecified LIME1 +OMIM:609808 skos:exactMatch UMLS:C1853298 Unspecified hamartoma, precalcaneal congenital fibrolipomatous +OMIM:609807 skos:exactMatch HGNC_symbol:CD300LF Unspecified CD300LF +OMIM:609807 skos:exactMatch UMLS:C1824680 Unspecified CD300LF +OMIM:609807 skos:exactMatch HGNC:29883 Unspecified CD300LF +OMIM:609806 skos:exactMatch UMLS:C0162565 Unspecified HMBS +OMIM:609806 skos:exactMatch HGNC_symbol:HMBS Unspecified HMBS +OMIM:609806 skos:exactMatch HGNC:4982 Unspecified HMBS +OMIM:609806 skos:exactMatch UMLS:C1867969 Unspecified HMBS +OMIM:609806 skos:exactMatch UMLS:C1415597 Unspecified HMBS +OMIM:609812 skos:exactMatch UMLS:C1853297 Unspecified maturity-onset diabetes of the young, iia 8, with exocrine dysfunction +OMIM:103740 skos:exactMatch HGNC_symbol:ADH4 Unspecified ADH4 +OMIM:103740 skos:exactMatch UMLS:C1412238 Unspecified ADH4 +OMIM:103740 skos:exactMatch HGNC:252 Unspecified ADH4 +OMIM:609811 skos:exactMatch HGNC_symbol:COX7B2 Unspecified COX7B2 +OMIM:609811 skos:exactMatch UMLS:C1539132 Unspecified COX7B2 +OMIM:609811 skos:exactMatch HGNC:24381 Unspecified COX7B2 +OMIM:609810 skos:exactMatch HGNC_symbol:PEG10 Unspecified PEG10 +OMIM:609810 skos:exactMatch HGNC:14005 Unspecified PEG10 +OMIM:609810 skos:exactMatch UMLS:C1422341 Unspecified PEG10 +OMIM:139750 skos:exactMatch UMLS:C1841693 Unspecified hand and foot deformity with flat facies +OMIM:127700 skos:exactMatch UMLS:C1851968 Unspecified dyslexia, susceptibility to, 1 +OMIM:127700 skos:exactMatch UMLS:C1851967 Unspecified dyslexia, susceptibility to, 1 +OMIM:127700 skos:exactMatch UMLS:C1851969 Unspecified dyslexia, susceptibility to, 1 +OMIM:609801 skos:exactMatch UMLS:C1824678 Unspecified CD300E +OMIM:609801 skos:exactMatch HGNC_symbol:CD300E Unspecified CD300E +OMIM:609801 skos:exactMatch HGNC:28874 Unspecified CD300E +OMIM:306250 skos:exactMatch UMLS:C1413750 Unspecified CSF2RA +OMIM:306250 skos:exactMatch HGNC_symbol:CSF2RA Unspecified CSF2RA +OMIM:306250 skos:exactMatch HGNC:2435 Unspecified CSF2RA +OMIM:609800 skos:exactMatch UMLS:C1853345 Unspecified generalized epilepsy with febrile seizures plus, iia 4 +OMIM:607208 skos:exactMatch ORPHA:33069 Unspecified dravet syndrome +OMIM:607208 skos:exactMatch UMLS:C0751122 Unspecified dravet syndrome +OMIM:607209 skos:exactMatch HGNC:16422 Unspecified CARD10 +OMIM:607209 skos:exactMatch HGNC_symbol:CARD10 Unspecified CARD10 +OMIM:607209 skos:exactMatch UMLS:C1424267 Unspecified CARD10 +OMIM:610859 skos:exactMatch UMLS:C2239891 Unspecified CARMIL2 +OMIM:610859 skos:exactMatch UMLS:C4748304 Unspecified CARMIL2 +OMIM:610859 skos:exactMatch HGNC_symbol:CARMIL2 Unspecified CARMIL2 +OMIM:610859 skos:exactMatch HGNC:27089 Unspecified CARMIL2 +OMIM:609869 skos:exactMatch UMLS:C1427999 Unspecified SPATA12 +OMIM:609869 skos:exactMatch HGNC:23221 Unspecified SPATA12 +OMIM:609869 skos:exactMatch HGNC_symbol:SPATA12 Unspecified SPATA12 +OMIM:607206 skos:exactMatch HGNC:13743 Unspecified ALOXE3 +OMIM:607206 skos:exactMatch HGNC_symbol:ALOXE3 Unspecified ALOXE3 +OMIM:607206 skos:exactMatch UMLS:C1422178 Unspecified ALOXE3 +OMIM:609868 skos:exactMatch HGNC:20423 Unspecified SPATA7 +OMIM:609868 skos:exactMatch UMLS:C1426931 Unspecified SPATA7 +OMIM:609868 skos:exactMatch HGNC_symbol:SPATA7 Unspecified SPATA7 +OMIM:607207 skos:exactMatch HGNC:11427 Unspecified STUB1 +OMIM:607207 skos:exactMatch HGNC_symbol:STUB1 Unspecified STUB1 +OMIM:607207 skos:exactMatch UMLS:C1420492 Unspecified STUB1 +OMIM:610856 skos:exactMatch UMLS:C1538287 Unspecified ANKRD30A +OMIM:610856 skos:exactMatch HGNC:17234 Unspecified ANKRD30A +OMIM:610856 skos:exactMatch HGNC_symbol:ANKRD30A Unspecified ANKRD30A +OMIM:137100 skos:exactMatch UMLS:C2931161 Unspecified immunoglobulin a deficiency 1 +OMIM:164720 skos:exactMatch HGNC_symbol:ETS1 Unspecified ETS1 +OMIM:164720 skos:exactMatch UMLS:C0812201 Unspecified ETS1 +OMIM:164720 skos:exactMatch HGNC:3488 Unspecified ETS1 +OMIM:610855 skos:exactMatch HGNC:29186 Unspecified ANKRD26 +OMIM:610855 skos:exactMatch UMLS:C1428810 Unspecified ANKRD26 +OMIM:610855 skos:exactMatch HGNC_symbol:ANKRD26 Unspecified ANKRD26 +OMIM:610858 skos:exactMatch HGNC:23169 Unspecified RTRAF +OMIM:610858 skos:exactMatch UMLS:C1427962 Unspecified RTRAF +OMIM:610858 skos:exactMatch HGNC_symbol:RTRAF Unspecified RTRAF +OMIM:610857 skos:exactMatch HGNC:30588 Unspecified MUCL1 +OMIM:610857 skos:exactMatch HGNC_symbol:MUCL1 Unspecified MUCL1 +OMIM:610857 skos:exactMatch UMLS:C1334347 Unspecified MUCL1 +OMIM:610852 skos:exactMatch UMLS:C1970506 Unspecified ciliary dyskinesia, primary, 6 +OMIM:610851 skos:exactMatch HGNC_symbol:AP1AR Unspecified AP1AR +OMIM:610851 skos:exactMatch UMLS:C1540235 Unspecified AP1AR +OMIM:610851 skos:exactMatch HGNC:28808 Unspecified AP1AR +OMIM:610853 skos:exactMatch HGNC_symbol:AHCTF1 Unspecified AHCTF1 +OMIM:610853 skos:exactMatch HGNC:24618 Unspecified AHCTF1 +OMIM:610853 skos:exactMatch UMLS:C1826615 Unspecified AHCTF1 +OMIM:176705 skos:exactMatch UMLS:C1335208 Unspecified PHB +OMIM:176705 skos:exactMatch HGNC:8912 Unspecified PHB +OMIM:176705 skos:exactMatch HGNC_symbol:PHB1 Unspecified PHB +OMIM:610850 skos:exactMatch UMLS:C1422399 Unspecified XAB2 +OMIM:610850 skos:exactMatch HGNC:14089 Unspecified XAB2 +OMIM:610850 skos:exactMatch HGNC_symbol:XAB2 Unspecified XAB2 +OMIM:176700 skos:exactMatch UMLS:C0399526 Unspecified prognathism, mandibular +OMIM:609870 skos:exactMatch HGNC:23725 Unspecified ARHGAP21 +OMIM:609870 skos:exactMatch UMLS:C1428226 Unspecified ARHGAP21 +OMIM:609870 skos:exactMatch HGNC_symbol:ARHGAP21 Unspecified ARHGAP21 +OMIM:607211 skos:exactMatch UMLS:C4017074 Unspecified CARD14 +OMIM:607211 skos:exactMatch UMLS:C1424286 Unspecified CARD14 +OMIM:607211 skos:exactMatch HGNC_symbol:CARD14 Unspecified CARD14 +OMIM:607211 skos:exactMatch HGNC:16446 Unspecified CARD14 +OMIM:607211 skos:exactMatch UMLS:C1864497 Unspecified CARD14 +OMIM:607211 skos:exactMatch UMLS:C0032027 Unspecified CARD14 +OMIM:609874 skos:exactMatch HGNC_symbol:ITLN2 Unspecified ITLN2 +OMIM:609874 skos:exactMatch UMLS:C1427023 Unspecified ITLN2 +OMIM:609874 skos:exactMatch HGNC:20599 Unspecified ITLN2 +OMIM:607212 skos:exactMatch UMLS:C1424242 Unspecified CARD9 +OMIM:607212 skos:exactMatch HGNC_symbol:CARD9 Unspecified CARD9 +OMIM:607212 skos:exactMatch HGNC:16391 Unspecified CARD9 +OMIM:609873 skos:exactMatch UMLS:C1425400 Unspecified ITLN1 +OMIM:609873 skos:exactMatch HGNC_symbol:ITLN1 Unspecified ITLN1 +OMIM:609873 skos:exactMatch HGNC:18259 Unspecified ITLN1 +OMIM:140750 skos:exactMatch HGNC_symbol:DENND2B Unspecified ST5 +OMIM:140750 skos:exactMatch HGNC:11350 Unspecified ST5 +OMIM:140750 skos:exactMatch UMLS:C0812376 Unspecified ST5 +OMIM:609872 skos:exactMatch UMLS:C1423996 Unspecified WFDC12 +OMIM:609872 skos:exactMatch HGNC_symbol:WFDC12 Unspecified WFDC12 +OMIM:609872 skos:exactMatch HGNC:16115 Unspecified WFDC12 +OMIM:607210 skos:exactMatch UMLS:C1424244 Unspecified CARD11 +OMIM:607210 skos:exactMatch UMLS:C4551967 Unspecified CARD11 +OMIM:607210 skos:exactMatch UMLS:C4539957 Unspecified CARD11 +OMIM:607210 skos:exactMatch HGNC:16393 Unspecified CARD11 +OMIM:607210 skos:exactMatch HGNC_symbol:CARD11 Unspecified CARD11 +OMIM:607210 skos:exactMatch UMLS:C4540578 Unspecified CARD11 +OMIM:609871 skos:exactMatch HGNC:18026 Unspecified TBC1D2 +OMIM:609871 skos:exactMatch HGNC_symbol:TBC1D2 Unspecified TBC1D2 +OMIM:609871 skos:exactMatch UMLS:C1425252 Unspecified TBC1D2 +OMIM:609878 skos:exactMatch HGNC:25487 Unspecified MED9 +OMIM:609878 skos:exactMatch UMLS:C1537676 Unspecified MED9 +OMIM:609878 skos:exactMatch HGNC_symbol:MED9 Unspecified MED9 +OMIM:607215 skos:exactMatch HGNC_symbol:NPHP4 Unspecified NPHP4 +OMIM:607215 skos:exactMatch HGNC:19104 Unspecified NPHP4 +OMIM:607215 skos:exactMatch UMLS:C1426011 Unspecified NPHP4 +OMIM:607216 skos:exactMatch UMLS:C1426154 Unspecified SDK1 +OMIM:607216 skos:exactMatch HGNC_symbol:SDK1 Unspecified SDK1 +OMIM:607216 skos:exactMatch HGNC:19307 Unspecified SDK1 +OMIM:609877 skos:exactMatch UMLS:C1425393 Unspecified CRYL1 +OMIM:609877 skos:exactMatch HGNC:18246 Unspecified CRYL1 +OMIM:609877 skos:exactMatch HGNC_symbol:CRYL1 Unspecified CRYL1 +OMIM:607213 skos:exactMatch HGNC:17151 Unspecified ORC6 +OMIM:607213 skos:exactMatch HGNC_symbol:ORC6 Unspecified ORC6 +OMIM:607213 skos:exactMatch UMLS:C1335088 Unspecified ORC6 +OMIM:609876 skos:exactMatch UMLS:C1835949 Unspecified bone mineral density quantitative trait locus 6 +OMIM:609875 skos:exactMatch UMLS:C1422261 Unspecified ATOH7 +OMIM:609875 skos:exactMatch HGNC:13907 Unspecified ATOH7 +OMIM:609875 skos:exactMatch UMLS:C3277560 Unspecified ATOH7 +OMIM:609875 skos:exactMatch HGNC_symbol:ATOH7 Unspecified ATOH7 +OMIM:103720 skos:exactMatch HGNC:250 Unspecified ADH1B +OMIM:103720 skos:exactMatch UMLS:C1412236 Unspecified ADH1B +OMIM:103720 skos:exactMatch HGNC_symbol:ADH1B Unspecified ADH1B +OMIM:607214 skos:exactMatch UMLS:C1846617 Unspecified anonychia, total, with microcephaly +OMIM:610849 skos:exactMatch HGNC:26664 Unspecified TTLL6 +OMIM:610849 skos:exactMatch HGNC_symbol:TTLL6 Unspecified TTLL6 +OMIM:610849 skos:exactMatch UMLS:C1823541 Unspecified TTLL6 +OMIM:610848 skos:exactMatch UMLS:C1835811 Unspecified REP15 +OMIM:610848 skos:exactMatch HGNC_symbol:REP15 Unspecified REP15 +OMIM:610848 skos:exactMatch HGNC:33748 Unspecified REP15 +OMIM:609859 skos:exactMatch HGNC_symbol:ETNK2 Unspecified ETNK2 +OMIM:609859 skos:exactMatch UMLS:C1539369 Unspecified ETNK2 +OMIM:609859 skos:exactMatch HGNC:25575 Unspecified ETNK2 +OMIM:609858 skos:exactMatch HGNC_symbol:ETNK1 Unspecified ETNK1 +OMIM:609858 skos:exactMatch UMLS:C1539368 Unspecified ETNK1 +OMIM:609858 skos:exactMatch HGNC:24649 Unspecified ETNK1 +OMIM:609857 skos:exactMatch UMLS:C1414088 Unspecified DMWD +OMIM:609857 skos:exactMatch HGNC:2936 Unspecified DMWD +OMIM:609857 skos:exactMatch HGNC_symbol:DMWD Unspecified DMWD +OMIM:610845 skos:exactMatch HGNC_symbol:SLC35B3 Unspecified SLC35B3 +OMIM:610845 skos:exactMatch HGNC:21601 Unspecified SLC35B3 +OMIM:610845 skos:exactMatch UMLS:C1427638 Unspecified SLC35B3 +OMIM:610844 skos:exactMatch UMLS:C1858479 Unspecified SPG11 +OMIM:610844 skos:exactMatch HGNC:11226 Unspecified SPG11 +OMIM:610844 skos:exactMatch HGNC_symbol:SPG11 Unspecified SPG11 +OMIM:610844 skos:exactMatch UMLS:C4225253 Unspecified SPG11 +OMIM:610844 skos:exactMatch UMLS:C1420344 Unspecified SPG11 +OMIM:610844 skos:exactMatch UMLS:C1865864 Unspecified SPG11 +OMIM:610847 skos:exactMatch HGNC:23640 Unspecified ZNF322 +OMIM:610847 skos:exactMatch HGNC_symbol:ZNF322 Unspecified ZNF322 +OMIM:610847 skos:exactMatch UMLS:C1428177 Unspecified ZNF322 +OMIM:610846 skos:exactMatch HGNC_symbol:LRRC10 Unspecified LRRC10 +OMIM:610846 skos:exactMatch UMLS:C1537597 Unspecified LRRC10 +OMIM:610846 skos:exactMatch HGNC:20264 Unspecified LRRC10 +OMIM:188700 skos:exactMatch UMLS:C3150037 Unspecified blount disease, infantile +OMIM:610841 skos:exactMatch HGNC:19205 Unspecified STIM2 +OMIM:610841 skos:exactMatch UMLS:C1426088 Unspecified STIM2 +OMIM:610841 skos:exactMatch HGNC_symbol:STIM2 Unspecified STIM2 +OMIM:610840 skos:exactMatch ORPHA:741 Unspecified mitral valve prolapse 3 +OMIM:610840 skos:exactMatch UMLS:C1835814 Unspecified mitral valve prolapse 3 +OMIM:610843 skos:exactMatch HGNC:30863 Unspecified UQCR10 +OMIM:610843 skos:exactMatch HGNC_symbol:UQCR10 Unspecified UQCR10 +OMIM:610843 skos:exactMatch UMLS:C1835812 Unspecified UQCR10 +OMIM:610842 skos:exactMatch UMLS:C1835813 Unspecified pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency +OMIM:115700 skos:exactMatch UMLS:C1837023 Unspecified cataract 4, multiple types +OMIM:115700 skos:exactMatch UMLS:C3540850 Unspecified cataract 4, multiple types +OMIM:115700 skos:exactMatch UMLS:C3888391 Unspecified cataract 4, multiple types +OMIM:115700 skos:exactMatch UMLS:C1861832 Unspecified cataract 4, multiple types +OMIM:103735 skos:exactMatch HGNC:255 Unspecified ADH6 +OMIM:103735 skos:exactMatch HGNC_symbol:ADH6 Unspecified ADH6 +OMIM:103735 skos:exactMatch UMLS:C1412241 Unspecified ADH6 +OMIM:609863 skos:exactMatch HGNC:26113 Unspecified TCTN1 +OMIM:609863 skos:exactMatch UMLS:C1835950 Unspecified TCTN1 +OMIM:609863 skos:exactMatch HGNC_symbol:TCTN1 Unspecified TCTN1 +OMIM:607200 skos:exactMatch UMLS:C1846632 Unspecified thyroid dyshormonogenesis 6 +OMIM:609862 skos:exactMatch UMLS:C1424347 Unspecified TMPRSS6 +OMIM:609862 skos:exactMatch HGNC:16517 Unspecified TMPRSS6 +OMIM:609862 skos:exactMatch HGNC_symbol:TMPRSS6 Unspecified TMPRSS6 +OMIM:607201 skos:exactMatch HGNC_symbol:HNRNPR Unspecified HNRNPR +OMIM:607201 skos:exactMatch HGNC:5047 Unspecified HNRNPR +OMIM:607201 skos:exactMatch UMLS:C1415648 Unspecified HNRNPR +OMIM:609861 skos:exactMatch UMLS:C1835951 Unspecified IKBIP +OMIM:609861 skos:exactMatch HGNC:26430 Unspecified IKBIP +OMIM:609861 skos:exactMatch HGNC_symbol:IKBIP Unspecified IKBIP +OMIM:609860 skos:exactMatch UMLS:C1835952 Unspecified None +OMIM:609860 skos:exactMatch HGNC_symbol:DAD1P1 Unspecified None +OMIM:609860 skos:exactMatch HGNC:18295 Unspecified None +OMIM:607204 skos:exactMatch HGNC:14957 Unspecified PUM1 +OMIM:607204 skos:exactMatch UMLS:C1423086 Unspecified PUM1 +OMIM:607204 skos:exactMatch HGNC_symbol:PUM1 Unspecified PUM1 +OMIM:103730 skos:exactMatch UMLS:C1412237 Unspecified ADH1C +OMIM:103730 skos:exactMatch HGNC_symbol:ADH1C Unspecified ADH1C +OMIM:103730 skos:exactMatch HGNC:251 Unspecified ADH1C +OMIM:609867 skos:exactMatch UMLS:C1823581 Unspecified UBLCP1 +OMIM:609867 skos:exactMatch HGNC_symbol:UBLCP1 Unspecified UBLCP1 +OMIM:609867 skos:exactMatch HGNC:28110 Unspecified UBLCP1 +OMIM:607205 skos:exactMatch UMLS:C1423087 Unspecified PUM2 +OMIM:607205 skos:exactMatch HGNC:14958 Unspecified PUM2 +OMIM:607205 skos:exactMatch HGNC_symbol:PUM2 Unspecified PUM2 +OMIM:609866 skos:exactMatch HGNC:19164 Unspecified STARD13 +OMIM:609866 skos:exactMatch HGNC_symbol:STARD13 Unspecified STARD13 +OMIM:609866 skos:exactMatch UMLS:C1426055 Unspecified STARD13 +OMIM:607202 skos:exactMatch UMLS:C1846631 Unspecified celiac disease, susceptibility to, 5 +OMIM:609865 skos:exactMatch HGNC_symbol:PIP4P1 Unspecified PIP4P1 +OMIM:609865 skos:exactMatch HGNC:19299 Unspecified PIP4P1 +OMIM:609865 skos:exactMatch UMLS:C1823317 Unspecified PIP4P1 +OMIM:607203 skos:exactMatch HGNC_symbol:SAV1 Unspecified SAV1 +OMIM:607203 skos:exactMatch UMLS:C1425082 Unspecified SAV1 +OMIM:607203 skos:exactMatch HGNC:17795 Unspecified SAV1 +OMIM:609864 skos:exactMatch HGNC_symbol:PIP4P2 Unspecified PIP4P2 +OMIM:609864 skos:exactMatch HGNC:25452 Unspecified PIP4P2 +OMIM:609864 skos:exactMatch UMLS:C1823316 Unspecified PIP4P2 +OMIM:164745 skos:exactMatch UMLS:C2750355 Unspecified omodysplasia 2 +OMIM:610838 skos:exactMatch UMLS:C1970511 Unspecified autism, susceptibility to, 12 +OMIM:609849 skos:exactMatch HGNC:2253 Unspecified CORO1B +OMIM:609849 skos:exactMatch UMLS:C1413623 Unspecified CORO1B +OMIM:609849 skos:exactMatch HGNC_symbol:CORO1B Unspecified CORO1B +OMIM:610837 skos:exactMatch HGNC_symbol:BCL2L12 Unspecified BCL2L12 +OMIM:610837 skos:exactMatch HGNC:13787 Unspecified BCL2L12 +OMIM:610837 skos:exactMatch UMLS:C1422195 Unspecified BCL2L12 +OMIM:609848 skos:exactMatch HGNC:21302 Unspecified KCTD11 +OMIM:609848 skos:exactMatch UMLS:C1427479 Unspecified KCTD11 +OMIM:609848 skos:exactMatch HGNC_symbol:KCTD11 Unspecified KCTD11 +OMIM:609847 skos:exactMatch HGNC:27106 Unspecified NOTUM +OMIM:609847 skos:exactMatch UMLS:C1835953 Unspecified NOTUM +OMIM:609847 skos:exactMatch HGNC_symbol:NOTUM Unspecified NOTUM +OMIM:610839 skos:exactMatch UMLS:C1835815 Unspecified osteoarthritis susceptibility 4 +OMIM:609846 skos:exactMatch HGNC:22977 Unspecified REG4 +OMIM:609846 skos:exactMatch UMLS:C1427829 Unspecified REG4 +OMIM:609846 skos:exactMatch HGNC_symbol:REG4 Unspecified REG4 +OMIM:610834 skos:exactMatch UMLS:C1826357 Unspecified NAA50 +OMIM:610834 skos:exactMatch HGNC_symbol:NAA50 Unspecified NAA50 +OMIM:610834 skos:exactMatch HGNC:29533 Unspecified NAA50 +OMIM:610833 skos:exactMatch HGNC:15908 Unspecified NAA20 +OMIM:610833 skos:exactMatch UMLS:C1423824 Unspecified NAA20 +OMIM:610833 skos:exactMatch HGNC_symbol:NAA20 Unspecified NAA20 +OMIM:610836 skos:exactMatch UMLS:C1970512 Unspecified autism, susceptibility to, 11 +OMIM:164740 skos:exactMatch HGNC_symbol:ETS2 Unspecified ETS2 +OMIM:164740 skos:exactMatch UMLS:C0812202 Unspecified ETS2 +OMIM:164740 skos:exactMatch HGNC:3489 Unspecified ETS2 +OMIM:610835 skos:exactMatch HGNC_symbol:ICE2 Unspecified NARG2 +OMIM:610835 skos:exactMatch UMLS:C1538042 Unspecified NARG2 +OMIM:610835 skos:exactMatch HGNC:29885 Unspecified NARG2 +OMIM:610830 skos:exactMatch UMLS:C1835818 Unspecified polyosteolysis-hyperostosis syndrome +OMIM:610832 skos:exactMatch UMLS:C1835817 Unspecified fanconi anemia, complementation group n +OMIM:610831 skos:exactMatch HGNC_symbol:TBC1D10C Unspecified TBC1D10C +OMIM:610831 skos:exactMatch UMLS:C1539933 Unspecified TBC1D10C +OMIM:610831 skos:exactMatch HGNC:24702 Unspecified TBC1D10C +OMIM:103700 skos:exactMatch HGNC_symbol:ADH1A Unspecified ADH1A +OMIM:103700 skos:exactMatch HGNC:249 Unspecified ADH1A +OMIM:103700 skos:exactMatch UMLS:C1412235 Unspecified ADH1A +OMIM:149100 skos:exactMatch UMLS:C0264000 Unspecified knuckle pads +OMIM:176720 skos:exactMatch HGNC_symbol:PIP Unspecified PIP +OMIM:176720 skos:exactMatch HGNC:8993 Unspecified PIP +OMIM:176720 skos:exactMatch UMLS:C1418587 Unspecified PIP +OMIM:609852 skos:exactMatch HGNC_symbol:MIXL1 Unspecified MIXL1 +OMIM:609852 skos:exactMatch HGNC:13363 Unspecified MIXL1 +OMIM:609852 skos:exactMatch UMLS:C1421951 Unspecified MIXL1 +OMIM:609851 skos:exactMatch HGNC:20739 Unspecified IPMK +OMIM:609851 skos:exactMatch HGNC_symbol:IPMK Unspecified IPMK +OMIM:609851 skos:exactMatch UMLS:C1427103 Unspecified IPMK +OMIM:609850 skos:exactMatch HGNC_symbol:TBC1D1 Unspecified TBC1D1 +OMIM:609850 skos:exactMatch HGNC:11578 Unspecified TBC1D1 +OMIM:609850 skos:exactMatch UMLS:C1420593 Unspecified TBC1D1 +OMIM:137130 skos:exactMatch UMLS:C1850930 Unspecified gastric sneezing +OMIM:609856 skos:exactMatch HGNC:29935 Unspecified SPATA16 +OMIM:609856 skos:exactMatch UMLS:C1539811 Unspecified SPATA16 +OMIM:609856 skos:exactMatch HGNC_symbol:SPATA16 Unspecified SPATA16 +OMIM:609855 skos:exactMatch UMLS:C1428910 Unspecified COASY +OMIM:609855 skos:exactMatch HGNC:29932 Unspecified COASY +OMIM:609855 skos:exactMatch HGNC_symbol:COASY Unspecified COASY +OMIM:609854 skos:exactMatch HGNC:28107 Unspecified PPCDC +OMIM:609854 skos:exactMatch HGNC_symbol:PPCDC Unspecified PPCDC +OMIM:609854 skos:exactMatch UMLS:C1826653 Unspecified PPCDC +OMIM:609853 skos:exactMatch HGNC:25686 Unspecified PPCS +OMIM:609853 skos:exactMatch UMLS:C1826654 Unspecified PPCS +OMIM:609853 skos:exactMatch HGNC_symbol:PPCS Unspecified PPCS +OMIM:610827 skos:exactMatch HGNC:15807 Unspecified ZNF335 +OMIM:610827 skos:exactMatch UMLS:C1423745 Unspecified ZNF335 +OMIM:610827 skos:exactMatch HGNC_symbol:ZNF335 Unspecified ZNF335 +OMIM:609838 skos:exactMatch UMLS:C1420147 Unspecified SLC24A2 +OMIM:609838 skos:exactMatch HGNC:10976 Unspecified SLC24A2 +OMIM:609838 skos:exactMatch HGNC_symbol:SLC24A2 Unspecified SLC24A2 +OMIM:609837 skos:exactMatch HGNC:33020 Unspecified SNORD115-1 +OMIM:609837 skos:exactMatch UMLS:C1835962 Unspecified SNORD115-1 +OMIM:609837 skos:exactMatch HGNC_symbol:SNORD115-1 Unspecified SNORD115-1 +OMIM:610826 skos:exactMatch UMLS:C1822755 Unspecified SLC25A46 +OMIM:610826 skos:exactMatch HGNC:25198 Unspecified SLC25A46 +OMIM:610826 skos:exactMatch HGNC_symbol:SLC25A46 Unspecified SLC25A46 +OMIM:610829 skos:exactMatch UMLS:C1835819 Unspecified holoprosencephaly 9 +OMIM:609836 skos:exactMatch HGNC_symbol:PCBD2 Unspecified PCBD2 +OMIM:609836 skos:exactMatch HGNC:24474 Unspecified PCBD2 +OMIM:609836 skos:exactMatch UMLS:C1538596 Unspecified PCBD2 +OMIM:609835 skos:exactMatch HGNC:19677 Unspecified MYCBPAP +OMIM:609835 skos:exactMatch HGNC_symbol:MYCBPAP Unspecified MYCBPAP +OMIM:609835 skos:exactMatch UMLS:C1426327 Unspecified MYCBPAP +OMIM:610828 skos:exactMatch UMLS:C1835820 Unspecified holoprosencephaly 7 +OMIM:164730 skos:exactMatch HGNC_symbol:AKT1 Unspecified AKT1 +OMIM:164730 skos:exactMatch UMLS:C4016282 Unspecified AKT1 +OMIM:164730 skos:exactMatch UMLS:C1833970 Unspecified AKT1 +OMIM:164730 skos:exactMatch UMLS:C0812228 Unspecified AKT1 +OMIM:164730 skos:exactMatch UMLS:C3277233 Unspecified AKT1 +OMIM:164730 skos:exactMatch UMLS:C3554519 Unspecified AKT1 +OMIM:164730 skos:exactMatch HGNC:391 Unspecified AKT1 +OMIM:164730 skos:exactMatch UMLS:C1969537 Unspecified AKT1 +OMIM:610823 skos:exactMatch UMLS:C1822751 Unspecified SLC25A42 +OMIM:610823 skos:exactMatch HGNC_symbol:SLC25A42 Unspecified SLC25A42 +OMIM:610823 skos:exactMatch HGNC:28380 Unspecified SLC25A42 +OMIM:164731 skos:exactMatch HGNC_symbol:AKT2 Unspecified AKT2 +OMIM:164731 skos:exactMatch UMLS:C0812230 Unspecified AKT2 +OMIM:164731 skos:exactMatch HGNC:392 Unspecified AKT2 +OMIM:610822 skos:exactMatch UMLS:C1822750 Unspecified SLC25A41 +OMIM:610822 skos:exactMatch HGNC_symbol:SLC25A41 Unspecified SLC25A41 +OMIM:610822 skos:exactMatch HGNC:28533 Unspecified SLC25A41 +OMIM:610825 skos:exactMatch HGNC:27442 Unspecified SLC25A45 +OMIM:610825 skos:exactMatch UMLS:C1822754 Unspecified SLC25A45 +OMIM:610825 skos:exactMatch HGNC_symbol:SLC25A45 Unspecified SLC25A45 +OMIM:609839 skos:exactMatch UMLS:C1420148 Unspecified SLC24A3 +OMIM:609839 skos:exactMatch HGNC:10977 Unspecified SLC24A3 +OMIM:609839 skos:exactMatch HGNC_symbol:SLC24A3 Unspecified SLC24A3 +OMIM:610824 skos:exactMatch UMLS:C1822753 Unspecified SLC25A44 +OMIM:610824 skos:exactMatch HGNC_symbol:SLC25A44 Unspecified SLC25A44 +OMIM:610824 skos:exactMatch HGNC:29036 Unspecified SLC25A44 +OMIM:610821 skos:exactMatch UMLS:C1822749 Unspecified SLC25A40 +OMIM:610821 skos:exactMatch HGNC_symbol:SLC25A40 Unspecified SLC25A40 +OMIM:610821 skos:exactMatch HGNC:29680 Unspecified SLC25A40 +OMIM:610820 skos:exactMatch UMLS:C1822748 Unspecified SLC25A39 +OMIM:610820 skos:exactMatch HGNC_symbol:SLC25A39 Unspecified SLC25A39 +OMIM:610820 skos:exactMatch HGNC:24279 Unspecified SLC25A39 +OMIM:150100 skos:exactMatch HGNC:6541 Unspecified LDHB +OMIM:150100 skos:exactMatch HGNC_symbol:LDHB Unspecified LDHB +OMIM:150100 skos:exactMatch UMLS:C1416817 Unspecified LDHB +OMIM:176710 skos:exactMatch HGNC_symbol:P4HA1 Unspecified P4HA1 +OMIM:176710 skos:exactMatch HGNC:8546 Unspecified P4HA1 +OMIM:176710 skos:exactMatch UMLS:C1418222 Unspecified P4HA1 +OMIM:152760 skos:exactMatch UMLS:C4016249 Unspecified GNRH1 +OMIM:152760 skos:exactMatch HGNC_symbol:GNRH1 Unspecified GNRH1 +OMIM:152760 skos:exactMatch HGNC:4419 Unspecified GNRH1 +OMIM:152760 skos:exactMatch UMLS:C1415169 Unspecified GNRH1 +OMIM:152760 skos:exactMatch UMLS:C2986382 Unspecified GNRH1 +OMIM:609841 skos:exactMatch HGNC_symbol:SLC8B1 Unspecified SLC8B1 +OMIM:609841 skos:exactMatch HGNC:26175 Unspecified SLC8B1 +OMIM:609841 skos:exactMatch UMLS:C1539780 Unspecified SLC8B1 +OMIM:137140 skos:exactMatch UMLS:C1414909 Unspecified GABRA2 +OMIM:137140 skos:exactMatch UMLS:C4016111 Unspecified GABRA2 +OMIM:137140 skos:exactMatch HGNC:4076 Unspecified GABRA2 +OMIM:137140 skos:exactMatch UMLS:C5231409 Unspecified GABRA2 +OMIM:137140 skos:exactMatch HGNC_symbol:GABRA2 Unspecified GABRA2 +OMIM:609840 skos:exactMatch UMLS:C2673866 Unspecified SLC24A4 +OMIM:609840 skos:exactMatch HGNC_symbol:SLC24A4 Unspecified SLC24A4 +OMIM:609840 skos:exactMatch UMLS:C1420149 Unspecified SLC24A4 +OMIM:609840 skos:exactMatch UMLS:C4014578 Unspecified SLC24A4 +OMIM:609840 skos:exactMatch HGNC:10978 Unspecified SLC24A4 +OMIM:137142 skos:exactMatch UMLS:C1414912 Unspecified GABRA5 +OMIM:137142 skos:exactMatch HGNC:4079 Unspecified GABRA5 +OMIM:137142 skos:exactMatch UMLS:C5231410 Unspecified GABRA5 +OMIM:137142 skos:exactMatch HGNC_symbol:GABRA5 Unspecified GABRA5 +OMIM:137141 skos:exactMatch UMLS:C1414911 Unspecified GABRA4 +OMIM:137141 skos:exactMatch HGNC:4078 Unspecified GABRA4 +OMIM:137141 skos:exactMatch HGNC_symbol:GABRA4 Unspecified GABRA4 +OMIM:609845 skos:exactMatch HGNC:10856 Unspecified SI +OMIM:609845 skos:exactMatch HGNC_symbol:SI Unspecified SI +OMIM:609845 skos:exactMatch UMLS:C1420044 Unspecified SI +OMIM:609844 skos:exactMatch HGNC_symbol:DCP2 Unspecified DCP2 +OMIM:609844 skos:exactMatch UMLS:C1539227 Unspecified DCP2 +OMIM:609844 skos:exactMatch HGNC:24452 Unspecified DCP2 +OMIM:609843 skos:exactMatch HGNC_symbol:DCP1B Unspecified DCP1B +OMIM:609843 skos:exactMatch UMLS:C1539226 Unspecified DCP1B +OMIM:609843 skos:exactMatch HGNC:24451 Unspecified DCP1B +OMIM:103710 skos:exactMatch HGNC:253 Unspecified ADH5 +OMIM:103710 skos:exactMatch HGNC_symbol:ADH5 Unspecified ADH5 +OMIM:103710 skos:exactMatch UMLS:C1412239 Unspecified ADH5 +OMIM:609842 skos:exactMatch HGNC:26114 Unspecified EDC3 +OMIM:609842 skos:exactMatch UMLS:C1825025 Unspecified EDC3 +OMIM:609842 skos:exactMatch HGNC_symbol:EDC3 Unspecified EDC3 +OMIM:164765 skos:exactMatch HGNC_symbol:CTTN Unspecified CTTN +OMIM:164765 skos:exactMatch UMLS:C0812261 Unspecified CTTN +OMIM:164765 skos:exactMatch HGNC:3338 Unspecified CTTN +OMIM:162100 skos:exactMatch UMLS:C1834304 Unspecified amyotrophy, hereditary neuralgic +OMIM:610899 skos:exactMatch HGNC_symbol:CHMP4C Unspecified CHMP4C +OMIM:610899 skos:exactMatch HGNC:30599 Unspecified CHMP4C +OMIM:610899 skos:exactMatch UMLS:C1538459 Unspecified CHMP4C +OMIM:137143 skos:exactMatch UMLS:C1414913 Unspecified GABRA6 +OMIM:137143 skos:exactMatch HGNC:4080 Unspecified GABRA6 +OMIM:137143 skos:exactMatch HGNC_symbol:GABRA6 Unspecified GABRA6 +OMIM:164761 skos:exactMatch HGNC_symbol:RET Unspecified RET +OMIM:164761 skos:exactMatch UMLS:C1846724 Unspecified RET +OMIM:164761 skos:exactMatch HGNC:9967 Unspecified RET +OMIM:164761 skos:exactMatch UMLS:C0694890 Unspecified RET +OMIM:260570 skos:exactMatch UMLS:C1850054 Unspecified pelger-huet-like anomaly and episodic fever with abdominal pain +OMIM:619231 skos:exactMatch HGNC_symbol:SAMD4B Unspecified SAMD4B +OMIM:619231 skos:exactMatch HGNC:25492 Unspecified SAMD4B +OMIM:619230 skos:exactMatch HGNC:41908 Unspecified SAP25 +OMIM:619230 skos:exactMatch HGNC_symbol:SAP25 Unspecified SAP25 +OMIM:164762 skos:exactMatch UMLS:C0812252 Unspecified CRK +OMIM:164762 skos:exactMatch HGNC:2362 Unspecified CRK +OMIM:164762 skos:exactMatch HGNC_symbol:CRK Unspecified CRK +OMIM:610896 skos:exactMatch UMLS:C1970479 Unspecified branchiootorenal syndrome 2 +OMIM:619233 skos:exactMatch HGNC_symbol:SAMD14 Unspecified SAMD14 +OMIM:619233 skos:exactMatch HGNC:27312 Unspecified SAMD14 +OMIM:164760 skos:exactMatch UMLS:C0812215 Unspecified RAF1 +OMIM:164760 skos:exactMatch HGNC_symbol:RAF1 Unspecified RAF1 +OMIM:164760 skos:exactMatch HGNC:9829 Unspecified RAF1 +OMIM:164760 skos:exactMatch UMLS:C3149025 Unspecified RAF1 +OMIM:610895 skos:exactMatch HGNC_symbol:WFIKKN2 Unspecified WFIKKN2 +OMIM:610895 skos:exactMatch HGNC:30916 Unspecified WFIKKN2 +OMIM:610895 skos:exactMatch UMLS:C1538108 Unspecified WFIKKN2 +OMIM:619235 skos:exactMatch HGNC_symbol:RPP25 Unspecified RPP25 +OMIM:619235 skos:exactMatch HGNC:30361 Unspecified RPP25 +OMIM:610898 skos:exactMatch UMLS:C1970476 Unspecified supranuclear palsy, progressive, 3 +OMIM:610897 skos:exactMatch UMLS:C1854311 Unspecified CHMP4B +OMIM:610897 skos:exactMatch HGNC:16171 Unspecified CHMP4B +OMIM:610897 skos:exactMatch HGNC_symbol:CHMP4B Unspecified CHMP4B +OMIM:610897 skos:exactMatch UMLS:C4017230 Unspecified CHMP4B +OMIM:610897 skos:exactMatch UMLS:C1538458 Unspecified CHMP4B +OMIM:610892 skos:exactMatch HGNC:33429 Unspecified SYT14L +OMIM:610892 skos:exactMatch UMLS:C1970480 Unspecified SYT14L +OMIM:610892 skos:exactMatch HGNC_symbol:SYT14P1 Unspecified SYT14L +OMIM:619237 skos:exactMatch HGNC_symbol:KIAA0232 Unspecified KIAA0232 +OMIM:619237 skos:exactMatch HGNC:28992 Unspecified KIAA0232 +OMIM:610891 skos:exactMatch HGNC:31419 Unspecified FAM102A +OMIM:610891 skos:exactMatch HGNC_symbol:FAM102A Unspecified FAM102A +OMIM:610891 skos:exactMatch UMLS:C1825226 Unspecified FAM102A +OMIM:619236 skos:exactMatch HGNC:21636 Unspecified KIAA0408 +OMIM:619236 skos:exactMatch HGNC_symbol:KIAA0408 Unspecified KIAA0408 +OMIM:610894 skos:exactMatch HGNC:29862 Unspecified NRG4 +OMIM:610894 skos:exactMatch HGNC_symbol:NRG4 Unspecified NRG4 +OMIM:610894 skos:exactMatch UMLS:C1826470 Unspecified NRG4 +OMIM:610893 skos:exactMatch HGNC_symbol:CHMP2A Unspecified CHMP2A +OMIM:610893 skos:exactMatch HGNC:30216 Unspecified CHMP2A +OMIM:610893 skos:exactMatch UMLS:C1538455 Unspecified CHMP2A +OMIM:176741 skos:exactMatch UMLS:C1334508 Unspecified MKI67 +OMIM:176741 skos:exactMatch HGNC_symbol:MKI67 Unspecified MKI67 +OMIM:176741 skos:exactMatch HGNC:7107 Unspecified MKI67 +OMIM:607251 skos:exactMatch HGNC_symbol:TIMM22 Unspecified TIMM22 +OMIM:607251 skos:exactMatch HGNC:17317 Unspecified TIMM22 +OMIM:607251 skos:exactMatch UMLS:C5394284 Unspecified TIMM22 +OMIM:607251 skos:exactMatch UMLS:C1424897 Unspecified TIMM22 +OMIM:176740 skos:exactMatch HGNC_symbol:PCNA Unspecified PCNA +OMIM:176740 skos:exactMatch UMLS:C1366837 Unspecified PCNA +OMIM:176740 skos:exactMatch HGNC:8729 Unspecified PCNA +OMIM:607252 skos:exactMatch HGNC:619 Unspecified APOL2 +OMIM:607252 skos:exactMatch UMLS:C1412486 Unspecified APOL2 +OMIM:607252 skos:exactMatch HGNC_symbol:APOL2 Unspecified APOL2 +OMIM:607250 skos:exactMatch UMLS:C4759870 Unspecified spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +OMIM:607255 skos:exactMatch UMLS:C1423012 Unspecified APOL5 +OMIM:607255 skos:exactMatch HGNC:14869 Unspecified APOL5 +OMIM:607255 skos:exactMatch HGNC_symbol:APOL5 Unspecified APOL5 +OMIM:137150 skos:exactMatch UMLS:C1412057 Unspecified ABAT +OMIM:137150 skos:exactMatch HGNC_symbol:ABAT Unspecified ABAT +OMIM:137150 skos:exactMatch HGNC:23 Unspecified ABAT +OMIM:607256 skos:exactMatch HGNC:14870 Unspecified APOL6 +OMIM:607256 skos:exactMatch UMLS:C1423013 Unspecified APOL6 +OMIM:607256 skos:exactMatch HGNC_symbol:APOL6 Unspecified APOL6 +OMIM:607253 skos:exactMatch UMLS:C1423011 Unspecified APOL3 +OMIM:607253 skos:exactMatch HGNC:14868 Unspecified APOL3 +OMIM:607253 skos:exactMatch HGNC_symbol:APOL3 Unspecified APOL3 +OMIM:607254 skos:exactMatch HGNC:14867 Unspecified APOL4 +OMIM:607254 skos:exactMatch UMLS:C1423010 Unspecified APOL4 +OMIM:607254 skos:exactMatch HGNC_symbol:APOL4 Unspecified APOL4 +OMIM:308840 skos:exactMatch HGNC:6470 Unspecified L1CAM +OMIM:308840 skos:exactMatch UMLS:C1416769 Unspecified L1CAM +OMIM:308840 skos:exactMatch HGNC_symbol:L1CAM Unspecified L1CAM +OMIM:607259 skos:exactMatch UMLS:C1846564 Unspecified spastic paraplegia 7, autosomal recessive +OMIM:607257 skos:exactMatch UMLS:C5436509 Unspecified SOX6 +OMIM:607257 skos:exactMatch UMLS:C2986382 Unspecified SOX6 +OMIM:607257 skos:exactMatch HGNC:16421 Unspecified SOX6 +OMIM:607257 skos:exactMatch UMLS:C1424266 Unspecified SOX6 +OMIM:607257 skos:exactMatch HGNC_symbol:SOX6 Unspecified SOX6 +OMIM:607258 skos:exactMatch UMLS:C1846573 Unspecified hypercalciuria, absorptive, 1 +OMIM:164757 skos:exactMatch UMLS:C3836559 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C4016283 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C4016284 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C1833970 Unspecified BRAF +OMIM:164757 skos:exactMatch HGNC_symbol:BRAF Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C0812241 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C2674727 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C1275081 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C3150970 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C3150971 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C3277236 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C3276201 Unspecified BRAF +OMIM:164757 skos:exactMatch HGNC:1097 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C1969389 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C3838632 Unspecified BRAF +OMIM:164757 skos:exactMatch UMLS:C3837430 Unspecified BRAF +OMIM:607239 skos:exactMatch UMLS:C1846576 Unspecified deafness, autosomal recessive 33 +OMIM:164755 skos:exactMatch HGNC:12696 Unspecified VIS1 +OMIM:164755 skos:exactMatch UMLS:C1421453 Unspecified VIS1 +OMIM:164755 skos:exactMatch HGNC_symbol:VIS1 Unspecified VIS1 +OMIM:610889 skos:exactMatch HGNC_symbol:IPO11 Unspecified IPO11 +OMIM:610889 skos:exactMatch UMLS:C1427040 Unspecified IPO11 +OMIM:610889 skos:exactMatch HGNC:20628 Unspecified IPO11 +OMIM:610888 skos:exactMatch UMLS:C1970481 Unspecified None +OMIM:164750 skos:exactMatch UMLS:C3277235 Unspecified omphalocele, autosomal +OMIM:619222 skos:exactMatch HGNC_symbol:SCAI Unspecified SCAI +OMIM:619222 skos:exactMatch HGNC:26709 Unspecified SCAI +OMIM:610885 skos:exactMatch UMLS:C1428432 Unspecified EME1 +OMIM:610885 skos:exactMatch HGNC_symbol:EME1 Unspecified EME1 +OMIM:610885 skos:exactMatch HGNC:24965 Unspecified EME1 +OMIM:610884 skos:exactMatch UMLS:C1824481 Unspecified FAAP24 +OMIM:610884 skos:exactMatch HGNC:28467 Unspecified FAAP24 +OMIM:610884 skos:exactMatch HGNC_symbol:FAAP24 Unspecified FAAP24 +OMIM:610887 skos:exactMatch HGNC_symbol:POLN Unspecified POLN +OMIM:610887 skos:exactMatch HGNC:18870 Unspecified POLN +OMIM:610887 skos:exactMatch UMLS:C1425841 Unspecified POLN +OMIM:188740 skos:exactMatch UMLS:C1861098 Unspecified tibia, hypoplasia or aplasia of, with polydactyly +OMIM:610886 skos:exactMatch UMLS:C1428650 Unspecified EME2 +OMIM:610886 skos:exactMatch HGNC_symbol:EME2 Unspecified EME2 +OMIM:610886 skos:exactMatch HGNC:27289 Unspecified EME2 +OMIM:260565 skos:exactMatch UMLS:C1850055 Unspecified peho syndrome +OMIM:610881 skos:exactMatch HGNC_symbol:KMT5B Unspecified KMT5B +OMIM:610881 skos:exactMatch UMLS:C4540474 Unspecified KMT5B +OMIM:610881 skos:exactMatch HGNC:24283 Unspecified KMT5B +OMIM:610881 skos:exactMatch UMLS:C1539900 Unspecified KMT5B +OMIM:610880 skos:exactMatch HGNC:1174 Unspecified C11ORF24 +OMIM:610880 skos:exactMatch HGNC_symbol:C11orf24 Unspecified C11ORF24 +OMIM:610880 skos:exactMatch UMLS:C1412873 Unspecified C11ORF24 +OMIM:619225 skos:exactMatch HGNC_symbol:RPL13A Unspecified RPL13A +OMIM:619225 skos:exactMatch HGNC:10304 Unspecified RPL13A +OMIM:610883 skos:exactMatch UMLS:C2931246 Unspecified potocki-lupski syndrome +OMIM:610883 skos:exactMatch ORPHA:1713 Unspecified potocki-lupski syndrome +OMIM:610882 skos:exactMatch UMLS:C1420427 Unspecified SSNA1 +OMIM:610882 skos:exactMatch HGNC_symbol:SSNA1 Unspecified SSNA1 +OMIM:610882 skos:exactMatch HGNC:11321 Unspecified SSNA1 +OMIM:619219 skos:exactMatch HGNC:26799 Unspecified C2ORF69 +OMIM:619219 skos:exactMatch HGNC_symbol:C2orf69 Unspecified C2ORF69 +OMIM:610890 skos:exactMatch HGNC_symbol:RGS7BP Unspecified RGS7BP +OMIM:610890 skos:exactMatch HGNC:23271 Unspecified RGS7BP +OMIM:610890 skos:exactMatch UMLS:C1826820 Unspecified RGS7BP +OMIM:176730 skos:exactMatch HGNC:6081 Unspecified INS +OMIM:176730 skos:exactMatch UMLS:C5394307 Unspecified INS +OMIM:176730 skos:exactMatch UMLS:C0342283 Unspecified INS +OMIM:176730 skos:exactMatch UMLS:C3150617 Unspecified INS +OMIM:176730 skos:exactMatch UMLS:C1337112 Unspecified INS +OMIM:176730 skos:exactMatch UMLS:C1852092 Unspecified INS +OMIM:176730 skos:exactMatch HGNC_symbol:INS Unspecified INS +OMIM:607240 skos:exactMatch HGNC_symbol:KMT5A Unspecified KMT5A +OMIM:607240 skos:exactMatch HGNC:29489 Unspecified KMT5A +OMIM:607240 skos:exactMatch UMLS:C1822692 Unspecified KMT5A +OMIM:607241 skos:exactMatch HGNC:19215 Unspecified FDCSP +OMIM:607241 skos:exactMatch UMLS:C1426092 Unspecified FDCSP +OMIM:607241 skos:exactMatch HGNC_symbol:FDCSP Unspecified FDCSP +OMIM:607244 skos:exactMatch HGNC_symbol:AP4E1 Unspecified AP4E1 +OMIM:607244 skos:exactMatch HGNC:573 Unspecified AP4E1 +OMIM:607244 skos:exactMatch UMLS:C1412453 Unspecified AP4E1 +OMIM:308850 skos:exactMatch UMLS:C0396059 Unspecified laryngeal abductor paralysis +OMIM:137162 skos:exactMatch HGNC:4091 Unspecified GABRR2 +OMIM:137162 skos:exactMatch HGNC_symbol:GABRR2 Unspecified GABRR2 +OMIM:137162 skos:exactMatch UMLS:C1414924 Unspecified GABRR2 +OMIM:152780 skos:exactMatch UMLS:C1416842 Unspecified LHB +OMIM:152780 skos:exactMatch HGNC_symbol:LHB Unspecified LHB +OMIM:152780 skos:exactMatch HGNC:6584 Unspecified LHB +OMIM:607245 skos:exactMatch HGNC_symbol:AP4B1 Unspecified AP4B1 +OMIM:607245 skos:exactMatch HGNC:572 Unspecified AP4B1 +OMIM:607245 skos:exactMatch UMLS:C1412452 Unspecified AP4B1 +OMIM:137161 skos:exactMatch HGNC:4090 Unspecified GABRR1 +OMIM:137161 skos:exactMatch HGNC_symbol:GABRR1 Unspecified GABRR1 +OMIM:137161 skos:exactMatch UMLS:C1414923 Unspecified GABRR1 +OMIM:137164 skos:exactMatch UMLS:C1414920 Unspecified GABRG2 +OMIM:137164 skos:exactMatch UMLS:C1858674 Unspecified GABRG2 +OMIM:137164 skos:exactMatch HGNC:4087 Unspecified GABRG2 +OMIM:137164 skos:exactMatch UMLS:C5193074 Unspecified GABRG2 +OMIM:137164 skos:exactMatch HGNC_symbol:GABRG2 Unspecified GABRG2 +OMIM:137164 skos:exactMatch UMLS:C2986382 Unspecified GABRG2 +OMIM:137164 skos:exactMatch UMLS:C1969810 Unspecified GABRG2 +OMIM:607242 skos:exactMatch HGNC_symbol:AP2A2 Unspecified AP2A2 +OMIM:607242 skos:exactMatch HGNC:562 Unspecified AP2A2 +OMIM:607242 skos:exactMatch UMLS:C1412442 Unspecified AP2A2 +OMIM:137163 skos:exactMatch UMLS:C1414917 Unspecified GABRD +OMIM:137163 skos:exactMatch HGNC:4084 Unspecified GABRD +OMIM:137163 skos:exactMatch HGNC_symbol:GABRD Unspecified GABRD +OMIM:137163 skos:exactMatch UMLS:C3150399 Unspecified GABRD +OMIM:137163 skos:exactMatch UMLS:C2751604 Unspecified GABRD +OMIM:137163 skos:exactMatch UMLS:C2751603 Unspecified GABRD +OMIM:607243 skos:exactMatch HGNC_symbol:AP4S1 Unspecified AP4S1 +OMIM:607243 skos:exactMatch HGNC:575 Unspecified AP4S1 +OMIM:607243 skos:exactMatch UMLS:C1412455 Unspecified AP4S1 +OMIM:607248 skos:exactMatch UMLS:C2750944 Unspecified glioma susceptibility 4 +OMIM:607249 skos:exactMatch UMLS:C1425793 Unspecified CATSPER2 +OMIM:607249 skos:exactMatch HGNC_symbol:CATSPER2 Unspecified CATSPER2 +OMIM:607249 skos:exactMatch HGNC:18810 Unspecified CATSPER2 +OMIM:607246 skos:exactMatch HGNC_symbol:AP3D1 Unspecified AP3D1 +OMIM:607246 skos:exactMatch HGNC:568 Unspecified AP3D1 +OMIM:607246 skos:exactMatch UMLS:C1412448 Unspecified AP3D1 +OMIM:137160 skos:exactMatch HGNC:4075 Unspecified GABRA1 +OMIM:137160 skos:exactMatch UMLS:C2749942 Unspecified GABRA1 +OMIM:137160 skos:exactMatch UMLS:C4013473 Unspecified GABRA1 +OMIM:137160 skos:exactMatch HGNC_symbol:GABRA1 Unspecified GABRA1 +OMIM:137160 skos:exactMatch UMLS:C1414908 Unspecified GABRA1 +OMIM:137160 skos:exactMatch UMLS:C1970160 Unspecified GABRA1 +OMIM:137160 skos:exactMatch UMLS:C3810400 Unspecified GABRA1 +OMIM:607247 skos:exactMatch HGNC_symbol:CHODL Unspecified CHODL +OMIM:607247 skos:exactMatch HGNC:17807 Unspecified CHODL +OMIM:607247 skos:exactMatch UMLS:C1425091 Unspecified CHODL +OMIM:607228 skos:exactMatch UMLS:C1826280 Unspecified MRGPRX2 +OMIM:607228 skos:exactMatch HGNC_symbol:MRGPRX2 Unspecified MRGPRX2 +OMIM:607228 skos:exactMatch HGNC:17983 Unspecified MRGPRX2 +OMIM:607229 skos:exactMatch UMLS:C1826281 Unspecified MRGPRX3 +OMIM:607229 skos:exactMatch HGNC_symbol:MRGPRX3 Unspecified MRGPRX3 +OMIM:607229 skos:exactMatch HGNC:17980 Unspecified MRGPRX3 +OMIM:164785 skos:exactMatch HGNC:6973 Unspecified MDM2 +OMIM:164785 skos:exactMatch UMLS:C0812222 Unspecified MDM2 +OMIM:164785 skos:exactMatch HGNC_symbol:MDM2 Unspecified MDM2 +OMIM:137166 skos:exactMatch UMLS:C1414919 Unspecified GABRG1 +OMIM:137166 skos:exactMatch HGNC:4086 Unspecified GABRG1 +OMIM:137166 skos:exactMatch HGNC_symbol:GABRG1 Unspecified GABRG1 +OMIM:610878 skos:exactMatch UMLS:C1970483 Unspecified vesicoureteral reflux 2 +OMIM:137165 skos:exactMatch HGNC:11042 Unspecified SLC6A1 +OMIM:137165 skos:exactMatch UMLS:C4085238 Unspecified SLC6A1 +OMIM:137165 skos:exactMatch UMLS:C1420206 Unspecified SLC6A1 +OMIM:137165 skos:exactMatch HGNC_symbol:SLC6A1 Unspecified SLC6A1 +OMIM:610877 skos:exactMatch HGNC:19253 Unspecified SAPS2 +OMIM:610877 skos:exactMatch UMLS:C1826978 Unspecified SAPS2 +OMIM:610877 skos:exactMatch HGNC_symbol:PPP6R2 Unspecified SAPS2 +OMIM:137168 skos:exactMatch HGNC:4260 Unspecified GGT5 +OMIM:137168 skos:exactMatch HGNC_symbol:GGT5 Unspecified GGT5 +OMIM:137168 skos:exactMatch UMLS:C1415061 Unspecified GGT5 +OMIM:137167 skos:exactMatch HGNC:4247 Unspecified GGCX +OMIM:137167 skos:exactMatch HGNC_symbol:GGCX Unspecified GGCX +OMIM:137167 skos:exactMatch UMLS:C1415050 Unspecified GGCX +OMIM:610879 skos:exactMatch HGNC:1173 Unspecified SAPS3 +OMIM:610879 skos:exactMatch UMLS:C1822609 Unspecified SAPS3 +OMIM:610879 skos:exactMatch HGNC_symbol:PPP6R3 Unspecified SAPS3 +OMIM:610874 skos:exactMatch HGNC_symbol:SPATC1 Unspecified SPATC1 +OMIM:610874 skos:exactMatch HGNC:30510 Unspecified SPATC1 +OMIM:610874 skos:exactMatch UMLS:C1539813 Unspecified SPATC1 +OMIM:619211 skos:exactMatch HGNC:18212 Unspecified HPCAL4 +OMIM:619211 skos:exactMatch HGNC_symbol:HPCAL4 Unspecified HPCAL4 +OMIM:610873 skos:exactMatch UMLS:C1970484 Unspecified menarche, age at, quantitative trait locus 1 +OMIM:619210 skos:exactMatch HGNC_symbol:HS3ST6 Unspecified HS3ST6 +OMIM:619210 skos:exactMatch HGNC:14178 Unspecified HS3ST6 +OMIM:619213 skos:exactMatch HGNC:23528 Unspecified ZSWIM8 +OMIM:619213 skos:exactMatch HGNC_symbol:ZSWIM8 Unspecified ZSWIM8 +OMIM:610876 skos:exactMatch HGNC:21033 Unspecified HACE1 +OMIM:610876 skos:exactMatch UMLS:C1427259 Unspecified HACE1 +OMIM:610876 skos:exactMatch HGNC_symbol:HACE1 Unspecified HACE1 +OMIM:610875 skos:exactMatch UMLS:C1826977 Unspecified SAPS1 +OMIM:610875 skos:exactMatch HGNC:29195 Unspecified SAPS1 +OMIM:610875 skos:exactMatch HGNC_symbol:PPP6R1 Unspecified SAPS1 +OMIM:619212 skos:exactMatch HGNC:50365 Unspecified IRAIN +OMIM:619212 skos:exactMatch HGNC_symbol:IRAIN Unspecified IRAIN +OMIM:164780 skos:exactMatch UMLS:C0812379 Unspecified SKI +OMIM:164780 skos:exactMatch HGNC:10896 Unspecified SKI +OMIM:164780 skos:exactMatch HGNC_symbol:SKI Unspecified SKI +OMIM:610870 skos:exactMatch UMLS:C1537619 Unspecified LRRTM4 +OMIM:610870 skos:exactMatch HGNC_symbol:LRRTM4 Unspecified LRRTM4 +OMIM:610870 skos:exactMatch HGNC:19411 Unspecified LRRTM4 +OMIM:619214 skos:exactMatch HGNC:30950 Unspecified ZNF639 +OMIM:619214 skos:exactMatch HGNC_symbol:ZNF639 Unspecified ZNF639 +OMIM:610872 skos:exactMatch UMLS:C1428629 Unspecified IBRDC3 +OMIM:610872 skos:exactMatch HGNC:26886 Unspecified IBRDC3 +OMIM:610872 skos:exactMatch HGNC_symbol:RNF19B Unspecified IBRDC3 +OMIM:610871 skos:exactMatch UMLS:C1970485 Unspecified sakoda complex +OMIM:260555 skos:exactMatch UMLS:C1850075 Unspecified partington-anderson syndrome +OMIM:619207 skos:exactMatch HGNC_symbol:INO80D Unspecified INO80D +OMIM:619207 skos:exactMatch HGNC:25997 Unspecified INO80D +OMIM:176763 skos:exactMatch UMLS:C1418879 Unspecified PRDX1 +OMIM:176763 skos:exactMatch HGNC:9352 Unspecified PRDX1 +OMIM:176763 skos:exactMatch HGNC_symbol:PRDX1 Unspecified PRDX1 +OMIM:609892 skos:exactMatch HGNC:3047 Unspecified RIPPLY3 +OMIM:609892 skos:exactMatch UMLS:C1414167 Unspecified RIPPLY3 +OMIM:609892 skos:exactMatch HGNC_symbol:RIPPLY3 Unspecified RIPPLY3 +OMIM:607230 skos:exactMatch UMLS:C1826282 Unspecified MRGPRX4 +OMIM:607230 skos:exactMatch HGNC:17617 Unspecified MRGPRX4 +OMIM:607230 skos:exactMatch HGNC_symbol:MRGPRX4 Unspecified MRGPRX4 +OMIM:609891 skos:exactMatch HGNC:21390 Unspecified RIPPLY2 +OMIM:609891 skos:exactMatch HGNC_symbol:RIPPLY2 Unspecified RIPPLY2 +OMIM:609891 skos:exactMatch UMLS:C2700597 Unspecified RIPPLY2 +OMIM:609890 skos:exactMatch HGNC_symbol:UBR4 Unspecified UBR4 +OMIM:609890 skos:exactMatch HGNC:30313 Unspecified UBR4 +OMIM:609890 skos:exactMatch UMLS:C1538258 Unspecified UBR4 +OMIM:607233 skos:exactMatch HGNC:24828 Unspecified MRGPRF +OMIM:607233 skos:exactMatch HGNC_symbol:MRGPRF Unspecified MRGPRF +OMIM:607233 skos:exactMatch UMLS:C1428415 Unspecified MRGPRF +OMIM:609896 skos:exactMatch UMLS:C1539348 Unspecified EIF4E3 +OMIM:609896 skos:exactMatch HGNC_symbol:EIF4E3 Unspecified EIF4E3 +OMIM:609896 skos:exactMatch HGNC:31837 Unspecified EIF4E3 +OMIM:607234 skos:exactMatch HGNC_symbol:MRGPRG Unspecified MRGPRG +OMIM:607234 skos:exactMatch HGNC:24829 Unspecified MRGPRG +OMIM:607234 skos:exactMatch UMLS:C1428416 Unspecified MRGPRG +OMIM:609895 skos:exactMatch UMLS:C1824533 Unspecified CASZ1 +OMIM:609895 skos:exactMatch HGNC_symbol:CASZ1 Unspecified CASZ1 +OMIM:609895 skos:exactMatch HGNC:26002 Unspecified CASZ1 +OMIM:152790 skos:exactMatch UMLS:C1416843 Unspecified LHCGR +OMIM:152790 skos:exactMatch HGNC_symbol:LHCGR Unspecified LHCGR +OMIM:152790 skos:exactMatch HGNC:6585 Unspecified LHCGR +OMIM:609894 skos:exactMatch HGNC:23150 Unspecified UNC13A +OMIM:609894 skos:exactMatch UMLS:C2986382 Unspecified UNC13A +OMIM:609894 skos:exactMatch HGNC_symbol:UNC13A Unspecified UNC13A +OMIM:609894 skos:exactMatch UMLS:C1427949 Unspecified UNC13A +OMIM:176761 skos:exactMatch HGNC_symbol:PRLR Unspecified PRLR +OMIM:176761 skos:exactMatch HGNC:9446 Unspecified PRLR +OMIM:176761 skos:exactMatch UMLS:C1335265 Unspecified PRLR +OMIM:607231 skos:exactMatch HGNC_symbol:MRGPRD Unspecified MRGPRD +OMIM:607231 skos:exactMatch HGNC:29626 Unspecified MRGPRD +OMIM:607231 skos:exactMatch UMLS:C1428882 Unspecified MRGPRD +OMIM:607232 skos:exactMatch HGNC:30694 Unspecified MRGPRE +OMIM:607232 skos:exactMatch HGNC_symbol:MRGPRE Unspecified MRGPRE +OMIM:607232 skos:exactMatch UMLS:C1428991 Unspecified MRGPRE +OMIM:609893 skos:exactMatch UMLS:C2940785 Unspecified hypothyroidism, congenital, nongoitrous, 3 +OMIM:176760 skos:exactMatch UMLS:C1418938 Unspecified PRL +OMIM:176760 skos:exactMatch HGNC:9445 Unspecified PRL +OMIM:176760 skos:exactMatch HGNC_symbol:PRL Unspecified PRL +OMIM:607237 skos:exactMatch HGNC:30800 Unspecified TMIE +OMIM:607237 skos:exactMatch UMLS:C1540023 Unspecified TMIE +OMIM:607237 skos:exactMatch HGNC_symbol:TMIE Unspecified TMIE +OMIM:609899 skos:exactMatch UMLS:C1425781 Unspecified KREMEN2 +OMIM:609899 skos:exactMatch HGNC:18797 Unspecified KREMEN2 +OMIM:609899 skos:exactMatch HGNC_symbol:KREMEN2 Unspecified KREMEN2 +OMIM:607238 skos:exactMatch HGNC:23024 Unspecified COMMD1 +OMIM:607238 skos:exactMatch HGNC_symbol:COMMD1 Unspecified COMMD1 +OMIM:607238 skos:exactMatch UMLS:C1427858 Unspecified COMMD1 +OMIM:607235 skos:exactMatch HGNC:13961 Unspecified MAS1L +OMIM:607235 skos:exactMatch UMLS:C1422304 Unspecified MAS1L +OMIM:607235 skos:exactMatch HGNC_symbol:MAS1L Unspecified MAS1L +OMIM:609898 skos:exactMatch UMLS:C1424993 Unspecified KREMEN1 +OMIM:609898 skos:exactMatch HGNC:17550 Unspecified KREMEN1 +OMIM:609898 skos:exactMatch HGNC_symbol:KREMEN1 Unspecified KREMEN1 +OMIM:607236 skos:exactMatch UMLS:C1846582 Unspecified hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration +OMIM:607236 skos:exactMatch ORPHA:157855 Unspecified hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration +OMIM:609897 skos:exactMatch HGNC_symbol:EGFL8 Unspecified EGFL8 +OMIM:609897 skos:exactMatch HGNC:13944 Unspecified EGFL8 +OMIM:609897 skos:exactMatch UMLS:C1422291 Unspecified EGFL8 +OMIM:137170 skos:exactMatch HGNC_symbol:GGCT Unspecified GGCT +OMIM:137170 skos:exactMatch UMLS:C1415027 Unspecified GGCT +OMIM:137170 skos:exactMatch HGNC:21705 Unspecified GGCT +OMIM:607219 skos:exactMatch UMLS:C1413563 Unspecified CNTN5 +OMIM:607219 skos:exactMatch HGNC_symbol:CNTN5 Unspecified CNTN5 +OMIM:607219 skos:exactMatch HGNC:2175 Unspecified CNTN5 +OMIM:607217 skos:exactMatch UMLS:C1426155 Unspecified SDK2 +OMIM:607217 skos:exactMatch HGNC_symbol:SDK2 Unspecified SDK2 +OMIM:607217 skos:exactMatch HGNC:19308 Unspecified SDK2 +OMIM:607218 skos:exactMatch HGNC:6120 Unspecified IRF5 +OMIM:607218 skos:exactMatch HGNC_symbol:IRF5 Unspecified IRF5 +OMIM:607218 skos:exactMatch UMLS:C1416473 Unspecified IRF5 +OMIM:609879 skos:exactMatch HGNC_symbol:SPATA4 Unspecified SPATA4 +OMIM:609879 skos:exactMatch UMLS:C1424909 Unspecified SPATA4 +OMIM:609879 skos:exactMatch HGNC:17333 Unspecified SPATA4 +OMIM:610867 skos:exactMatch HGNC:19408 Unspecified None +OMIM:610867 skos:exactMatch UMLS:C1537617 Unspecified None +OMIM:610867 skos:exactMatch HGNC_symbol:LRRTM1 Unspecified None +OMIM:610866 skos:exactMatch UMLS:C1540158 Unspecified UCKL1 +OMIM:610866 skos:exactMatch HGNC_symbol:UCKL1 Unspecified UCKL1 +OMIM:610866 skos:exactMatch HGNC:15938 Unspecified UCKL1 +OMIM:164772 skos:exactMatch HGNC:3797 Unspecified FOSB +OMIM:164772 skos:exactMatch HGNC_symbol:FOSB Unspecified FOSB +OMIM:164772 skos:exactMatch UMLS:C1333571 Unspecified FOSB +OMIM:610869 skos:exactMatch HGNC:19410 Unspecified LRRTM3 +OMIM:610869 skos:exactMatch HGNC_symbol:LRRTM3 Unspecified LRRTM3 +OMIM:610869 skos:exactMatch UMLS:C1426227 Unspecified LRRTM3 +OMIM:610868 skos:exactMatch HGNC:19409 Unspecified LRRTM2 +OMIM:610868 skos:exactMatch UMLS:C1537618 Unspecified LRRTM2 +OMIM:610868 skos:exactMatch HGNC_symbol:LRRTM2 Unspecified LRRTM2 +OMIM:610863 skos:exactMatch HGNC_symbol:GNB4 Unspecified GNB4 +OMIM:610863 skos:exactMatch UMLS:C1427102 Unspecified GNB4 +OMIM:610863 skos:exactMatch HGNC:20731 Unspecified GNB4 +OMIM:619200 skos:exactMatch HGNC_symbol:SNX21 Unspecified SNX21 +OMIM:619200 skos:exactMatch HGNC:16154 Unspecified SNX21 +OMIM:164770 skos:exactMatch UMLS:C0879468 Unspecified CSF1R +OMIM:164770 skos:exactMatch HGNC:2433 Unspecified CSF1R +OMIM:164770 skos:exactMatch HGNC_symbol:CSF1R Unspecified CSF1R +OMIM:610862 skos:exactMatch HGNC:20113 Unspecified DEGS2 +OMIM:610862 skos:exactMatch HGNC_symbol:DEGS2 Unspecified DEGS2 +OMIM:610862 skos:exactMatch UMLS:C1539266 Unspecified DEGS2 +OMIM:610865 skos:exactMatch HGNC:20105 Unspecified FLVCR2 +OMIM:610865 skos:exactMatch HGNC_symbol:FLVCR2 Unspecified FLVCR2 +OMIM:610865 skos:exactMatch UMLS:C1426689 Unspecified FLVCR2 +OMIM:260540 skos:exactMatch UMLS:C1850077 Unspecified parkinson-dementia syndrome +OMIM:610864 skos:exactMatch HGNC:39077 Unspecified FLVCR1-DT +OMIM:610864 skos:exactMatch HGNC_symbol:FLVCR1-DT Unspecified FLVCR1-DT +OMIM:610864 skos:exactMatch UMLS:C1970487 Unspecified FLVCR1-DT +OMIM:619204 skos:exactMatch HGNC:24328 Unspecified NIP7 +OMIM:619204 skos:exactMatch HGNC_symbol:NIP7 Unspecified NIP7 +OMIM:619206 skos:exactMatch HGNC_symbol:SCHIP1 Unspecified SCHIP1 +OMIM:619206 skos:exactMatch HGNC:15678 Unspecified SCHIP1 +OMIM:610861 skos:exactMatch HGNC:19861 Unspecified SYNE3 +OMIM:610861 skos:exactMatch HGNC_symbol:SYNE3 Unspecified SYNE3 +OMIM:610861 skos:exactMatch UMLS:C1426488 Unspecified SYNE3 +OMIM:610860 skos:exactMatch HGNC:321 Unspecified AGL +OMIM:610860 skos:exactMatch HGNC_symbol:AGL Unspecified AGL +OMIM:610860 skos:exactMatch UMLS:C3695007 Unspecified AGL +OMIM:610860 skos:exactMatch UMLS:C3695006 Unspecified AGL +OMIM:610860 skos:exactMatch UMLS:C3695005 Unspecified AGL +OMIM:610860 skos:exactMatch UMLS:C1412279 Unspecified AGL +OMIM:619205 skos:exactMatch HGNC:17281 Unspecified GHITM +OMIM:619205 skos:exactMatch HGNC_symbol:GHITM Unspecified GHITM +OMIM:609881 skos:exactMatch HGNC:23208 Unspecified POLR2J2 +OMIM:609881 skos:exactMatch UMLS:C1835948 Unspecified POLR2J2 +OMIM:609881 skos:exactMatch HGNC_symbol:POLR2J2 Unspecified POLR2J2 +OMIM:609880 skos:exactMatch HGNC:17016 Unspecified KAT7 +OMIM:609880 skos:exactMatch HGNC_symbol:KAT7 Unspecified KAT7 +OMIM:609880 skos:exactMatch UMLS:C1424687 Unspecified KAT7 +OMIM:607222 skos:exactMatch HGNC:13620 Unspecified FBXO18 +OMIM:607222 skos:exactMatch UMLS:C1422110 Unspecified FBXO18 +OMIM:607222 skos:exactMatch HGNC_symbol:FBH1 Unspecified FBXO18 +OMIM:609885 skos:exactMatch HGNC:23113 Unspecified ELL3 +OMIM:609885 skos:exactMatch HGNC_symbol:ELL3 Unspecified ELL3 +OMIM:609885 skos:exactMatch UMLS:C1427924 Unspecified ELL3 +OMIM:607223 skos:exactMatch UMLS:C1426859 Unspecified SMOC2 +OMIM:607223 skos:exactMatch HGNC_symbol:SMOC2 Unspecified SMOC2 +OMIM:607223 skos:exactMatch HGNC:20323 Unspecified SMOC2 +OMIM:609884 skos:exactMatch UMLS:C3150796 Unspecified TMEM67 +OMIM:609884 skos:exactMatch UMLS:C1853153 Unspecified TMEM67 +OMIM:609884 skos:exactMatch UMLS:C5435651 Unspecified TMEM67 +OMIM:609884 skos:exactMatch HGNC:28396 Unspecified TMEM67 +OMIM:609884 skos:exactMatch UMLS:C1823331 Unspecified TMEM67 +OMIM:609884 skos:exactMatch HGNC_symbol:TMEM67 Unspecified TMEM67 +OMIM:609884 skos:exactMatch UMLS:C1865794 Unspecified TMEM67 +OMIM:609884 skos:exactMatch UMLS:C4017204 Unspecified TMEM67 +OMIM:609884 skos:exactMatch UMLS:C4017203 Unspecified TMEM67 +OMIM:609884 skos:exactMatch UMLS:C1846357 Unspecified TMEM67 +OMIM:609883 skos:exactMatch UMLS:C3714506 Unspecified MKS1 +OMIM:609883 skos:exactMatch UMLS:C4310705 Unspecified MKS1 +OMIM:609883 skos:exactMatch UMLS:C1417186 Unspecified MKS1 +OMIM:609883 skos:exactMatch UMLS:C2673873 Unspecified MKS1 +OMIM:609883 skos:exactMatch HGNC_symbol:MKS1 Unspecified MKS1 +OMIM:609883 skos:exactMatch HGNC:7121 Unspecified MKS1 +OMIM:607220 skos:exactMatch HGNC_symbol:CNTN6 Unspecified CNTN6 +OMIM:607220 skos:exactMatch HGNC:2176 Unspecified CNTN6 +OMIM:607220 skos:exactMatch UMLS:C1413564 Unspecified CNTN6 +OMIM:308830 skos:exactMatch UMLS:C1839910 Unspecified keratosis follicularis, dwarfism, and cerebral atrophy +OMIM:609882 skos:exactMatch UMLS:C1826320 Unspecified MTF2 +OMIM:609882 skos:exactMatch HGNC:29535 Unspecified MTF2 +OMIM:609882 skos:exactMatch HGNC_symbol:MTF2 Unspecified MTF2 +OMIM:607221 skos:exactMatch UMLS:C1846609 Unspecified epilepsy, partial, with pericentral spikes +OMIM:607226 skos:exactMatch HGNC:19086 Unspecified HDAC11 +OMIM:607226 skos:exactMatch HGNC_symbol:HDAC11 Unspecified HDAC11 +OMIM:607226 skos:exactMatch UMLS:C1426002 Unspecified HDAC11 +OMIM:609889 skos:exactMatch UMLS:C1835931 Unspecified alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity +OMIM:609888 skos:exactMatch UMLS:C1835932 Unspecified leprosy, susceptibility to, 1 +OMIM:609888 skos:exactMatch ORPHA:548 Unspecified leprosy, susceptibility to, 1 +OMIM:607227 skos:exactMatch UMLS:C1826279 Unspecified MRGPRX1 +OMIM:607227 skos:exactMatch HGNC_symbol:MRGPRX1 Unspecified MRGPRX1 +OMIM:607227 skos:exactMatch HGNC:17962 Unspecified MRGPRX1 +OMIM:609887 skos:exactMatch UMLS:C1835933 Unspecified glaucoma 1, open angle, g +OMIM:607224 skos:exactMatch HGNC_symbol:LTO1 Unspecified ORAOV1 +OMIM:607224 skos:exactMatch HGNC:17589 Unspecified ORAOV1 +OMIM:607224 skos:exactMatch UMLS:C1425006 Unspecified ORAOV1 +OMIM:137181 skos:exactMatch HGNC:4251 Unspecified GGT2 +OMIM:137181 skos:exactMatch UMLS:C1415054 Unspecified GGT2 +OMIM:137181 skos:exactMatch HGNC_symbol:GGT2P Unspecified GGT2 +OMIM:607225 skos:exactMatch ORPHA:293168 Unspecified spastic paralysis, infantile-onset ascending +OMIM:607225 skos:exactMatch UMLS:C2931441 Unspecified spastic paralysis, infantile-onset ascending +OMIM:619270 skos:exactMatch HGNC_symbol:IFTAP Unspecified IFTAP +OMIM:619270 skos:exactMatch HGNC:25142 Unspecified IFTAP +OMIM:619275 skos:exactMatch HGNC_symbol:BZW2 Unspecified BZW2 +OMIM:619275 skos:exactMatch HGNC:18808 Unspecified BZW2 +OMIM:619277 skos:exactMatch HGNC_symbol:C20orf85 Unspecified C20ORF85 +OMIM:619277 skos:exactMatch HGNC:16216 Unspecified C20ORF85 +OMIM:619276 skos:exactMatch HGNC:28153 Unspecified BRME1 +OMIM:619276 skos:exactMatch HGNC_symbol:BRME1 Unspecified BRME1 +OMIM:260530 skos:exactMatch UMLS:C1850079 Unspecified parana hard-skin syndrome +OMIM:607291 skos:exactMatch UMLS:C1412437 Unspecified SYNRG +OMIM:607291 skos:exactMatch HGNC_symbol:SYNRG Unspecified SYNRG +OMIM:607291 skos:exactMatch HGNC:557 Unspecified SYNRG +OMIM:607292 skos:exactMatch UMLS:C1419947 Unspecified SEMA4A +OMIM:607292 skos:exactMatch HGNC:10729 Unspecified SEMA4A +OMIM:607292 skos:exactMatch HGNC_symbol:SEMA4A Unspecified SEMA4A +OMIM:607290 skos:exactMatch HGNC:30376 Unspecified SHISA5 +OMIM:607290 skos:exactMatch UMLS:C1846532 Unspecified SHISA5 +OMIM:607290 skos:exactMatch HGNC_symbol:SHISA5 Unspecified SHISA5 +OMIM:176785 skos:exactMatch UMLS:C1418873 Unspecified PRCP +OMIM:176785 skos:exactMatch HGNC_symbol:PRCP Unspecified PRCP +OMIM:176785 skos:exactMatch HGNC:9344 Unspecified PRCP +OMIM:607295 skos:exactMatch UMLS:C1425346 Unspecified MYO18B +OMIM:607295 skos:exactMatch HGNC:18150 Unspecified MYO18B +OMIM:607295 skos:exactMatch HGNC_symbol:MYO18B Unspecified MYO18B +OMIM:607296 skos:exactMatch HGNC:864 Unspecified ATP6V1G1 +OMIM:607296 skos:exactMatch UMLS:C1412684 Unspecified ATP6V1G1 +OMIM:607296 skos:exactMatch HGNC_symbol:ATP6V1G1 Unspecified ATP6V1G1 +OMIM:607293 skos:exactMatch HGNC_symbol:CLIC5 Unspecified CLIC5 +OMIM:607293 skos:exactMatch HGNC:13517 Unspecified CLIC5 +OMIM:607293 skos:exactMatch UMLS:C1422031 Unspecified CLIC5 +OMIM:607294 skos:exactMatch HGNC_symbol:TGIF2 Unspecified TGIF2 +OMIM:607294 skos:exactMatch HGNC:15764 Unspecified TGIF2 +OMIM:607294 skos:exactMatch UMLS:C1423713 Unspecified TGIF2 +OMIM:607299 skos:exactMatch UMLS:C1824952 Unspecified DNER +OMIM:607299 skos:exactMatch HGNC_symbol:DNER Unspecified DNER +OMIM:607299 skos:exactMatch HGNC:24456 Unspecified DNER +OMIM:176780 skos:exactMatch UMLS:C0205990 Unspecified pelvic organ prolapse, susceptibility to +OMIM:176780 skos:exactMatch UMLS:C0034888 Unspecified pelvic organ prolapse, susceptibility to +OMIM:176780 skos:exactMatch UMLS:C2752090 Unspecified pelvic organ prolapse, susceptibility to +OMIM:176780 skos:exactMatch UMLS:C1868686 Unspecified pelvic organ prolapse, susceptibility to +OMIM:607297 skos:exactMatch HGNC_symbol:NINJ2 Unspecified NINJ2 +OMIM:607297 skos:exactMatch HGNC:7825 Unspecified NINJ2 +OMIM:607297 skos:exactMatch UMLS:C1417729 Unspecified NINJ2 +OMIM:150150 skos:exactMatch HGNC_symbol:LDHC Unspecified LDHC +OMIM:150150 skos:exactMatch UMLS:C1416820 Unspecified LDHC +OMIM:150150 skos:exactMatch HGNC:6544 Unspecified LDHC +OMIM:607298 skos:exactMatch HGNC:14131 Unspecified GNG13 +OMIM:607298 skos:exactMatch HGNC_symbol:GNG13 Unspecified GNG13 +OMIM:607298 skos:exactMatch UMLS:C1422425 Unspecified GNG13 +OMIM:137190 skos:exactMatch HGNC_symbol:GABRB1 Unspecified GABRB1 +OMIM:137190 skos:exactMatch UMLS:C1414914 Unspecified GABRB1 +OMIM:137190 skos:exactMatch UMLS:C4310691 Unspecified GABRB1 +OMIM:137190 skos:exactMatch HGNC:4081 Unspecified GABRB1 +OMIM:137192 skos:exactMatch UMLS:C4015968 Unspecified GABRB3 +OMIM:137192 skos:exactMatch HGNC_symbol:GABRB3 Unspecified GABRB3 +OMIM:137192 skos:exactMatch UMLS:C1414916 Unspecified GABRB3 +OMIM:137192 skos:exactMatch UMLS:C2677087 Unspecified GABRB3 +OMIM:137192 skos:exactMatch UMLS:C4310712 Unspecified GABRB3 +OMIM:137192 skos:exactMatch HGNC:4083 Unspecified GABRB3 +OMIM:619262 skos:exactMatch HGNC:24023 Unspecified KLHL17 +OMIM:619262 skos:exactMatch HGNC_symbol:KLHL17 Unspecified KLHL17 +OMIM:619261 skos:exactMatch HGNC:28943 Unspecified KRTCAP3 +OMIM:619261 skos:exactMatch HGNC_symbol:KRTCAP3 Unspecified KRTCAP3 +OMIM:164795 skos:exactMatch UMLS:C1417929 Unspecified OCM +OMIM:164795 skos:exactMatch HGNC:8105 Unspecified OCM +OMIM:164795 skos:exactMatch HGNC_symbol:OCM Unspecified OCM +OMIM:619266 skos:exactMatch HGNC_symbol:TRIM52-AS1 Unspecified TRIM52AS1 +OMIM:619266 skos:exactMatch HGNC:49006 Unspecified TRIM52AS1 +OMIM:259550 skos:exactMatch UMLS:C0029441 Unspecified osteoid osteoma +OMIM:619265 skos:exactMatch HGNC_symbol:TRIM52 Unspecified TRIM52 +OMIM:619265 skos:exactMatch HGNC:19024 Unspecified TRIM52 +OMIM:164790 skos:exactMatch HGNC_symbol:NRAS Unspecified NRAS +OMIM:164790 skos:exactMatch HGNC:7989 Unspecified NRAS +OMIM:164790 skos:exactMatch UMLS:C0809246 Unspecified NRAS +OMIM:607280 skos:exactMatch UMLS:C1413562 Unspecified CNTN4 +OMIM:607280 skos:exactMatch HGNC_symbol:CNTN4 Unspecified CNTN4 +OMIM:607280 skos:exactMatch HGNC:2174 Unspecified CNTN4 +OMIM:607281 skos:exactMatch HGNC:20472 Unspecified LSM1 +OMIM:607281 skos:exactMatch UMLS:C1426957 Unspecified LSM1 +OMIM:607281 skos:exactMatch HGNC_symbol:LSM1 Unspecified LSM1 +OMIM:607281 skos:exactMatch UMLS:C2986382 Unspecified LSM1 +OMIM:607284 skos:exactMatch HGNC_symbol:LSM4 Unspecified LSM4 +OMIM:607284 skos:exactMatch UMLS:C1424855 Unspecified LSM4 +OMIM:607284 skos:exactMatch HGNC:17259 Unspecified LSM4 +OMIM:607285 skos:exactMatch HGNC_symbol:LSM5 Unspecified LSM5 +OMIM:607285 skos:exactMatch UMLS:C1424786 Unspecified LSM5 +OMIM:607285 skos:exactMatch HGNC:17162 Unspecified LSM5 +OMIM:607282 skos:exactMatch HGNC_symbol:LSM2 Unspecified LSM2 +OMIM:607282 skos:exactMatch HGNC:13940 Unspecified LSM2 +OMIM:607282 skos:exactMatch UMLS:C1422288 Unspecified LSM2 +OMIM:607283 skos:exactMatch HGNC:17874 Unspecified LSM3 +OMIM:607283 skos:exactMatch UMLS:C1425147 Unspecified LSM3 +OMIM:607283 skos:exactMatch HGNC_symbol:LSM3 Unspecified LSM3 +OMIM:235550 skos:exactMatch UMLS:C1856128 Unspecified hepatic venoocclusive disease with immunodeficiency +OMIM:176770 skos:exactMatch UMLS:C1867728 Unspecified proline-negative auxotroph of hamster, complementation of +OMIM:607288 skos:exactMatch HGNC:20471 Unspecified LSM8 +OMIM:607288 skos:exactMatch UMLS:C1426956 Unspecified LSM8 +OMIM:607288 skos:exactMatch HGNC_symbol:LSM8 Unspecified LSM8 +OMIM:607289 skos:exactMatch HGNC:18561 Unspecified BLOC1S5 +OMIM:607289 skos:exactMatch HGNC_symbol:BLOC1S5 Unspecified BLOC1S5 +OMIM:607289 skos:exactMatch UMLS:C1425601 Unspecified BLOC1S5 +OMIM:607286 skos:exactMatch HGNC_symbol:LSM6 Unspecified LSM6 +OMIM:607286 skos:exactMatch UMLS:C1424688 Unspecified LSM6 +OMIM:607286 skos:exactMatch HGNC:17017 Unspecified LSM6 +OMIM:607287 skos:exactMatch HGNC:20470 Unspecified LSM7 +OMIM:607287 skos:exactMatch UMLS:C1426955 Unspecified LSM7 +OMIM:607287 skos:exactMatch HGNC_symbol:LSM7 Unspecified LSM7 +OMIM:235555 skos:exactMatch UMLS:C1856127 Unspecified bile acid synthesis defect, congenital, 2 +OMIM:619251 skos:exactMatch HGNC:28494 Unspecified ACTL9 +OMIM:619251 skos:exactMatch HGNC_symbol:ACTL9 Unspecified ACTL9 +OMIM:619250 skos:exactMatch HGNC_symbol:RUNDC1 Unspecified RUNDC1 +OMIM:619250 skos:exactMatch HGNC:25418 Unspecified RUNDC1 +OMIM:619253 skos:exactMatch HGNC:29117 Unspecified WSCD2 +OMIM:619253 skos:exactMatch HGNC_symbol:WSCD2 Unspecified WSCD2 +OMIM:619252 skos:exactMatch HGNC:18380 Unspecified BZW1 +OMIM:619252 skos:exactMatch HGNC_symbol:BZW1 Unspecified BZW1 +OMIM:619254 skos:exactMatch HGNC_symbol:ZNF17 Unspecified ZNF17 +OMIM:619254 skos:exactMatch HGNC:12958 Unspecified ZNF17 +OMIM:619257 skos:exactMatch HGNC:55085 Unspecified HRURF +OMIM:619257 skos:exactMatch HGNC_symbol:HRURF Unspecified HRURF +OMIM:607270 skos:exactMatch HGNC_symbol:AUTS2 Unspecified AUTS2 +OMIM:607270 skos:exactMatch HGNC:14262 Unspecified AUTS2 +OMIM:607270 skos:exactMatch UMLS:C1422523 Unspecified AUTS2 +OMIM:607273 skos:exactMatch HGNC_symbol:FLCN Unspecified FLCN +OMIM:607273 skos:exactMatch HGNC:27310 Unspecified FLCN +OMIM:607273 skos:exactMatch UMLS:C1539518 Unspecified FLCN +OMIM:607274 skos:exactMatch HGNC_symbol:USP14 Unspecified USP14 +OMIM:607274 skos:exactMatch HGNC:12612 Unspecified USP14 +OMIM:607274 skos:exactMatch UMLS:C1421391 Unspecified USP14 +OMIM:607271 skos:exactMatch UMLS:C1846545 Unspecified caspase 8 deficiency +OMIM:607272 skos:exactMatch HGNC:16909 Unspecified NDC80 +OMIM:607272 skos:exactMatch UMLS:C1424628 Unspecified NDC80 +OMIM:607272 skos:exactMatch HGNC_symbol:NDC80 Unspecified NDC80 +OMIM:607277 skos:exactMatch UMLS:C1846534 Unspecified asthma-related traits, susceptibility to, 1 +OMIM:607278 skos:exactMatch UMLS:C4085248 Unspecified osteofibrous dysplasia, susceptibility to +OMIM:607275 skos:exactMatch UMLS:C1846535 Unspecified HOPX +OMIM:607275 skos:exactMatch HGNC:24961 Unspecified HOPX +OMIM:607275 skos:exactMatch HGNC_symbol:HOPX Unspecified HOPX +OMIM:607276 skos:exactMatch UMLS:C1821417 Unspecified resting heart rate, variation 1n +OMIM:150170 skos:exactMatch UMLS:C1835591 Unspecified lactic acidosis, chronic adult form +OMIM:607279 skos:exactMatch UMLS:C1846533 Unspecified systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 +OMIM:619240 skos:exactMatch HGNC_symbol:GDPGP1 Unspecified GDPGP1 +OMIM:619240 skos:exactMatch HGNC:34360 Unspecified GDPGP1 +OMIM:619242 skos:exactMatch HGNC:14569 Unspecified JPT1 +OMIM:619242 skos:exactMatch HGNC_symbol:JPT1 Unspecified JPT1 +OMIM:619241 skos:exactMatch HGNC:14137 Unspecified JPT2 +OMIM:619241 skos:exactMatch HGNC_symbol:JPT2 Unspecified JPT2 +OMIM:162151 skos:exactMatch HGNC:8744 Unspecified PCSK2 +OMIM:162151 skos:exactMatch UMLS:C1418389 Unspecified PCSK2 +OMIM:162151 skos:exactMatch HGNC_symbol:PCSK2 Unspecified PCSK2 +OMIM:162150 skos:exactMatch HGNC:8743 Unspecified PCSK1 +OMIM:162150 skos:exactMatch UMLS:C1418388 Unspecified PCSK1 +OMIM:162150 skos:exactMatch HGNC_symbol:PCSK1 Unspecified PCSK1 +OMIM:619246 skos:exactMatch HGNC:28139 Unspecified SPX +OMIM:619246 skos:exactMatch HGNC_symbol:SPX Unspecified SPX +OMIM:186100 skos:exactMatch ORPHA:93404 Unspecified syndactyly, iia 3 +OMIM:186100 skos:exactMatch UMLS:C1861366 Unspecified syndactyly, iia 3 +OMIM:619247 skos:exactMatch HGNC:20262 Unspecified SKA3 +OMIM:619247 skos:exactMatch HGNC_symbol:SKA3 Unspecified SKA3 +OMIM:619249 skos:exactMatch HGNC:24349 Unspecified CCDC186 +OMIM:619249 skos:exactMatch HGNC_symbol:CCDC186 Unspecified CCDC186 +OMIM:260500 skos:exactMatch UMLS:C0431109 Unspecified papilloma of choroid plexus +OMIM:260500 skos:exactMatch UMLS:C0205770 Unspecified papilloma of choroid plexus +OMIM:607262 skos:exactMatch HGNC:21604 Unspecified EPN1 +OMIM:607262 skos:exactMatch UMLS:C1427640 Unspecified EPN1 +OMIM:607262 skos:exactMatch HGNC_symbol:EPN1 Unspecified EPN1 +OMIM:607263 skos:exactMatch HGNC:18639 Unspecified EPN2 +OMIM:607263 skos:exactMatch HGNC_symbol:EPN2 Unspecified EPN2 +OMIM:607263 skos:exactMatch UMLS:C1425669 Unspecified EPN2 +OMIM:176795 skos:exactMatch HGNC:9109 Unspecified PMCH +OMIM:176795 skos:exactMatch UMLS:C1418669 Unspecified PMCH +OMIM:176795 skos:exactMatch HGNC_symbol:PMCH Unspecified PMCH +OMIM:607260 skos:exactMatch HGNC:30054 Unspecified None +OMIM:607260 skos:exactMatch HGNC_symbol:LGALS14 Unspecified None +OMIM:607260 skos:exactMatch UMLS:C1537568 Unspecified None +OMIM:607261 skos:exactMatch UMLS:C1426383 Unspecified EVC2 +OMIM:607261 skos:exactMatch HGNC_symbol:EVC2 Unspecified EVC2 +OMIM:607261 skos:exactMatch HGNC:19747 Unspecified EVC2 +OMIM:176797 skos:exactMatch UMLS:C1867727 Unspecified ZBTB16 +OMIM:176797 skos:exactMatch HGNC_symbol:ZBTB16 Unspecified ZBTB16 +OMIM:176797 skos:exactMatch UMLS:C1538149 Unspecified ZBTB16 +OMIM:176797 skos:exactMatch HGNC:12930 Unspecified ZBTB16 +OMIM:607267 skos:exactMatch HGNC_symbol:POLE3 Unspecified POLE3 +OMIM:607267 skos:exactMatch HGNC:13546 Unspecified POLE3 +OMIM:607267 skos:exactMatch UMLS:C1422055 Unspecified POLE3 +OMIM:607264 skos:exactMatch HGNC:18235 Unspecified EPN3 +OMIM:607264 skos:exactMatch HGNC_symbol:EPN3 Unspecified EPN3 +OMIM:607264 skos:exactMatch UMLS:C1425387 Unspecified EPN3 +OMIM:176794 skos:exactMatch HGNC:9111 Unspecified PMCHL2 +OMIM:176794 skos:exactMatch HGNC_symbol:PMCHL2 Unspecified PMCHL2 +OMIM:176794 skos:exactMatch UMLS:C1418671 Unspecified PMCHL2 +OMIM:607265 skos:exactMatch HGNC_symbol:CLINT1 Unspecified CLINT1 +OMIM:607265 skos:exactMatch UMLS:C1824745 Unspecified CLINT1 +OMIM:607265 skos:exactMatch HGNC:23186 Unspecified CLINT1 +OMIM:176793 skos:exactMatch HGNC:9110 Unspecified PMCHL1 +OMIM:176793 skos:exactMatch HGNC_symbol:PMCHL1 Unspecified PMCHL1 +OMIM:176793 skos:exactMatch UMLS:C1418670 Unspecified PMCHL1 +OMIM:176790 skos:exactMatch HGNC_symbol:P4HB Unspecified P4HB +OMIM:176790 skos:exactMatch HGNC:8548 Unspecified P4HB +OMIM:176790 skos:exactMatch UMLS:C1418224 Unspecified P4HB +OMIM:607268 skos:exactMatch HGNC_symbol:CHRAC1 Unspecified CHRAC1 +OMIM:607268 skos:exactMatch HGNC:13544 Unspecified CHRAC1 +OMIM:607268 skos:exactMatch UMLS:C1422054 Unspecified CHRAC1 +OMIM:607269 skos:exactMatch HGNC:18755 Unspecified POLE4 +OMIM:607269 skos:exactMatch HGNC_symbol:POLE4 Unspecified POLE4 +OMIM:607269 skos:exactMatch UMLS:C1425761 Unspecified POLE4 +OMIM:619192 skos:exactMatch HGNC_symbol:SLC7A6OS Unspecified SLC7A6OS +OMIM:619192 skos:exactMatch HGNC:25807 Unspecified SLC7A6OS +OMIM:619193 skos:exactMatch HGNC_symbol:TTLL8 Unspecified TTLL8 +OMIM:619193 skos:exactMatch HGNC:34000 Unspecified TTLL8 +OMIM:619195 skos:exactMatch HGNC:24483 Unspecified TTLL3 +OMIM:619195 skos:exactMatch HGNC_symbol:TTLL3 Unspecified TTLL3 +OMIM:619198 skos:exactMatch HGNC:20957 Unspecified SDHAF4 +OMIM:619198 skos:exactMatch HGNC_symbol:SDHAF4 Unspecified SDHAF4 +OMIM:619197 skos:exactMatch HGNC:18138 Unspecified EIF3L +OMIM:619197 skos:exactMatch HGNC_symbol:EIF3L Unspecified EIF3L +OMIM:223540 skos:exactMatch UMLS:C0796076 Unspecified dwarfism, mental retardation, and eye abnormality +OMIM:162060 skos:exactMatch HGNC:4140 Unspecified GAP43 +OMIM:162060 skos:exactMatch HGNC_symbol:GAP43 Unspecified GAP43 +OMIM:162060 skos:exactMatch UMLS:C1414967 Unspecified GAP43 +OMIM:619190 skos:exactMatch HGNC:27945 Unspecified IHO1 +OMIM:619190 skos:exactMatch HGNC_symbol:IHO1 Unspecified IHO1 +OMIM:619181 skos:exactMatch HGNC:19829 Unspecified FAM177A1 +OMIM:619181 skos:exactMatch HGNC_symbol:FAM177A1 Unspecified FAM177A1 +OMIM:619187 skos:exactMatch HGNC:4577 Unspecified GRIFIN +OMIM:619187 skos:exactMatch HGNC_symbol:GRIFIN Unspecified GRIFIN +OMIM:619186 skos:exactMatch HGNC_symbol:PLEKHM3 Unspecified PLEKHM3 +OMIM:619186 skos:exactMatch HGNC:34006 Unspecified PLEKHM3 +OMIM:259500 skos:exactMatch UMLS:C0029463 Unspecified osteogenic sarcoma +OMIM:235510 skos:exactMatch UMLS:C4012050 Unspecified hennekam lymphangiectasia-lymphedema syndrome 1 +OMIM:176690 skos:exactMatch UMLS:C1261128 Unspecified progeroid short stature with pigmented nevi +OMIM:619171 skos:exactMatch HGNC:14237 Unspecified GUCD1 +OMIM:619171 skos:exactMatch HGNC_symbol:GUCD1 Unspecified GUCD1 +OMIM:162080 skos:exactMatch UMLS:C1417848 Unspecified NRL +OMIM:162080 skos:exactMatch HGNC:8002 Unspecified NRL +OMIM:162080 skos:exactMatch HGNC_symbol:NRL Unspecified NRL +OMIM:607192 skos:exactMatch UMLS:C1422522 Unspecified RGS18 +OMIM:607192 skos:exactMatch HGNC_symbol:RGS18 Unspecified RGS18 +OMIM:607192 skos:exactMatch HGNC:14261 Unspecified RGS18 +OMIM:607193 skos:exactMatch UMLS:C1422781 Unspecified RGS20 +OMIM:607193 skos:exactMatch HGNC_symbol:RGS20 Unspecified RGS20 +OMIM:607193 skos:exactMatch HGNC:14600 Unspecified RGS20 +OMIM:607190 skos:exactMatch HGNC_symbol:RGS13 Unspecified RGS13 +OMIM:607190 skos:exactMatch HGNC:9995 Unspecified RGS13 +OMIM:607190 skos:exactMatch UMLS:C1419371 Unspecified RGS13 +OMIM:607191 skos:exactMatch UMLS:C1422398 Unspecified RGS17 +OMIM:607191 skos:exactMatch HGNC_symbol:RGS17 Unspecified RGS17 +OMIM:607191 skos:exactMatch HGNC:14088 Unspecified RGS17 +OMIM:607196 skos:exactMatch UMLS:C1846648 Unspecified microcephaly, amish iia +OMIM:607196 skos:exactMatch ORPHA:99742 Unspecified microcephaly, amish iia +OMIM:607197 skos:exactMatch UMLS:C1846647 Unspecified deafness, autosomal recessive +OMIM:607194 skos:exactMatch HGNC:23734 Unspecified PTF1A +OMIM:607194 skos:exactMatch UMLS:C1428235 Unspecified PTF1A +OMIM:607194 skos:exactMatch UMLS:C1836780 Unspecified PTF1A +OMIM:607194 skos:exactMatch HGNC_symbol:PTF1A Unspecified PTF1A +OMIM:607198 skos:exactMatch UMLS:C1425854 Unspecified TDP1 +OMIM:607198 skos:exactMatch HGNC:18884 Unspecified TDP1 +OMIM:607198 skos:exactMatch HGNC_symbol:TDP1 Unspecified TDP1 +OMIM:607199 skos:exactMatch HGNC:6121 Unspecified IRF6 +OMIM:607199 skos:exactMatch UMLS:C4551864 Unspecified IRF6 +OMIM:607199 skos:exactMatch UMLS:C0265259 Unspecified IRF6 +OMIM:607199 skos:exactMatch HGNC_symbol:IRF6 Unspecified IRF6 +OMIM:607199 skos:exactMatch UMLS:C1416474 Unspecified IRF6 +OMIM:619160 skos:exactMatch HGNC_symbol:CEACAM7 Unspecified CEACAM7 +OMIM:619160 skos:exactMatch HGNC:1819 Unspecified CEACAM7 +OMIM:619163 skos:exactMatch HGNC_symbol:RNF130 Unspecified RNF130 +OMIM:619163 skos:exactMatch HGNC:18280 Unspecified RNF130 +OMIM:619162 skos:exactMatch HGNC_symbol:FOXJ2 Unspecified FOXJ2 +OMIM:619162 skos:exactMatch HGNC:24818 Unspecified FOXJ2 +OMIM:223550 skos:exactMatch UMLS:C1857196 Unspecified dwarfism, proportionate, with hip dislocation +OMIM:619169 skos:exactMatch HGNC_symbol:GTPBP4 Unspecified GTPBP4 +OMIM:619169 skos:exactMatch HGNC:21535 Unspecified GTPBP4 +OMIM:619168 skos:exactMatch HGNC:28771 Unspecified TMEM109 +OMIM:619168 skos:exactMatch HGNC_symbol:TMEM109 Unspecified TMEM109 +OMIM:607181 skos:exactMatch HGNC_symbol:RTP3 Unspecified RTP3 +OMIM:607181 skos:exactMatch UMLS:C1826953 Unspecified RTP3 +OMIM:607181 skos:exactMatch HGNC:15572 Unspecified RTP3 +OMIM:607182 skos:exactMatch HGNC:14673 Unspecified FYCO1 +OMIM:607182 skos:exactMatch HGNC_symbol:FYCO1 Unspecified FYCO1 +OMIM:607182 skos:exactMatch UMLS:C1422829 Unspecified FYCO1 +OMIM:607180 skos:exactMatch HGNC_symbol:LRRC2 Unspecified LRRC2 +OMIM:607180 skos:exactMatch UMLS:C1422832 Unspecified LRRC2 +OMIM:607180 skos:exactMatch HGNC:14676 Unspecified LRRC2 +OMIM:607185 skos:exactMatch UMLS:C1419929 Unspecified SEC24C +OMIM:607185 skos:exactMatch HGNC_symbol:SEC24C Unspecified SEC24C +OMIM:607185 skos:exactMatch HGNC:10705 Unspecified SEC24C +OMIM:607186 skos:exactMatch UMLS:C1419930 Unspecified SEC24D +OMIM:607186 skos:exactMatch HGNC_symbol:SEC24D Unspecified SEC24D +OMIM:607186 skos:exactMatch HGNC:10706 Unspecified SEC24D +OMIM:607183 skos:exactMatch UMLS:C1419927 Unspecified SEC24A +OMIM:607183 skos:exactMatch HGNC_symbol:SEC24A Unspecified SEC24A +OMIM:607183 skos:exactMatch HGNC:10703 Unspecified SEC24A +OMIM:607184 skos:exactMatch UMLS:C1419928 Unspecified SEC24B +OMIM:607184 skos:exactMatch HGNC_symbol:SEC24B Unspecified SEC24B +OMIM:607184 skos:exactMatch HGNC:10704 Unspecified SEC24B +OMIM:607189 skos:exactMatch HGNC:16810 Unspecified RGS8 +OMIM:607189 skos:exactMatch HGNC_symbol:RGS8 Unspecified RGS8 +OMIM:607189 skos:exactMatch UMLS:C1424563 Unspecified RGS8 +OMIM:607187 skos:exactMatch UMLS:C1539859 Unspecified ST3GAL1 +OMIM:607187 skos:exactMatch HGNC_symbol:ST3GAL1 Unspecified ST3GAL1 +OMIM:607187 skos:exactMatch HGNC:10862 Unspecified ST3GAL1 +OMIM:607188 skos:exactMatch UMLS:C1539860 Unspecified ST3GAL2 +OMIM:607188 skos:exactMatch HGNC_symbol:ST3GAL2 Unspecified ST3GAL2 +OMIM:607188 skos:exactMatch HGNC:10863 Unspecified ST3GAL2 +OMIM:174050 skos:exactMatch UMLS:C0887850 Unspecified polycystic liver disease 1 with or without kidney cysts +OMIM:223500 skos:exactMatch UMLS:C1857197 Unspecified dwarfism, low-birth-weight type, with unresponsiveness to growth hormone +OMIM:162096 skos:exactMatch HGNC:6972 Unspecified MDK +OMIM:162096 skos:exactMatch UMLS:C1334498 Unspecified MDK +OMIM:162096 skos:exactMatch HGNC_symbol:MDK Unspecified MDK +OMIM:162095 skos:exactMatch HGNC:9630 Unspecified PTN +OMIM:162095 skos:exactMatch UMLS:C1335278 Unspecified PTN +OMIM:162095 skos:exactMatch HGNC_symbol:PTN Unspecified PTN +OMIM:162091 skos:exactMatch UMLS:C4048809 Unspecified schwannomatosis 1 +OMIM:475000 skos:exactMatch UMLS:C1868676 Unspecified growth control, y-chromosome influenced +OMIM:211530 skos:exactMatch UMLS:C0796274 Unspecified brown-vialetto-van laere syndrome 1 +OMIM:235500 skos:exactMatch UMLS:C0020807 Unspecified hemosiderosis, pulmonary, with deficiency of gamma-a globulin +OMIM:308905 skos:exactMatch UMLS:C1839891 Unspecified leber hereditary optic neuropathy, modifier of +OMIM:211500 skos:exactMatch UMLS:C0015708 Unspecified fazio-londe disease +OMIM:426000 skos:exactMatch HGNC:11115 Unspecified KDM5D +OMIM:426000 skos:exactMatch UMLS:C1539791 Unspecified KDM5D +OMIM:426000 skos:exactMatch HGNC_symbol:KDM5D Unspecified KDM5D +OMIM:127750 skos:exactMatch UMLS:C0752347 Unspecified dementia, lewy body +OMIM:127750 skos:exactMatch UMLS:C1851958 Unspecified dementia, lewy body +OMIM:127750 skos:exactMatch UMLS:C1851957 Unspecified dementia, lewy body +OMIM:103780 skos:exactMatch UMLS:C0001973 Unspecified alcohol dependence +OMIM:101120 skos:exactMatch UMLS:C1275079 Unspecified acrocephalopolysyndactyly iia 3 +OMIM:113100 skos:exactMatch UMLS:C1862103 Unspecified brachydactyly, iia c +OMIM:113100 skos:exactMatch ORPHA:93384 Unspecified brachydactyly, iia c +OMIM:140700 skos:exactMatch UMLS:C0700299 Unspecified heinz body anemias +OMIM:609949 skos:exactMatch HGNC:4527 Unspecified C5AR2 +OMIM:609949 skos:exactMatch UMLS:C1415258 Unspecified C5AR2 +OMIM:609949 skos:exactMatch HGNC_symbol:C5AR2 Unspecified C5AR2 +OMIM:610938 skos:exactMatch UMLS:C1970441 Unspecified coronary heart disease, susceptibility to, 7 +OMIM:610939 skos:exactMatch HGNC_symbol:MIR192 Unspecified MIR192 +OMIM:610939 skos:exactMatch UMLS:C1537825 Unspecified MIR192 +OMIM:610939 skos:exactMatch HGNC:31562 Unspecified MIR192 +OMIM:610936 skos:exactMatch UMLS:C1426033 Unspecified PSAT1 +OMIM:610936 skos:exactMatch UMLS:C1970253 Unspecified PSAT1 +OMIM:610936 skos:exactMatch HGNC_symbol:PSAT1 Unspecified PSAT1 +OMIM:610936 skos:exactMatch UMLS:C4015019 Unspecified PSAT1 +OMIM:610936 skos:exactMatch HGNC:19129 Unspecified PSAT1 +OMIM:610937 skos:exactMatch UMLS:C1969052 Unspecified RPGRIP1L +OMIM:610937 skos:exactMatch UMLS:C1969053 Unspecified RPGRIP1L +OMIM:610937 skos:exactMatch UMLS:C5436841 Unspecified RPGRIP1L +OMIM:610937 skos:exactMatch HGNC:29168 Unspecified RPGRIP1L +OMIM:610937 skos:exactMatch UMLS:C4017235 Unspecified RPGRIP1L +OMIM:610937 skos:exactMatch UMLS:C2242767 Unspecified RPGRIP1L +OMIM:610937 skos:exactMatch HGNC_symbol:RPGRIP1L Unspecified RPGRIP1L +OMIM:610934 skos:exactMatch HGNC_symbol:NOBOX Unspecified NOBOX +OMIM:610934 skos:exactMatch UMLS:C1826445 Unspecified NOBOX +OMIM:610934 skos:exactMatch HGNC:22448 Unspecified NOBOX +OMIM:610934 skos:exactMatch UMLS:C1969060 Unspecified NOBOX +OMIM:609945 skos:exactMatch UMLS:C1864965 Unspecified brachyphalangy, polydactyly, and tibial aplasia/hypoplasia +OMIM:609946 skos:exactMatch UMLS:C1864964 Unspecified deafness, autosomal recessive 47 +OMIM:610935 skos:exactMatch UMLS:C1825810 Unspecified ZACN +OMIM:610935 skos:exactMatch HGNC:29504 Unspecified ZACN +OMIM:610935 skos:exactMatch HGNC_symbol:ZACN Unspecified ZACN +OMIM:609947 skos:exactMatch HGNC_symbol:PRORP Unspecified PRORP +OMIM:609947 skos:exactMatch HGNC:19958 Unspecified PRORP +OMIM:609947 skos:exactMatch UMLS:C1426560 Unspecified PRORP +OMIM:610932 skos:exactMatch UMLS:C1823556 Unspecified TWF1 +OMIM:610932 skos:exactMatch HGNC:9620 Unspecified TWF1 +OMIM:610932 skos:exactMatch HGNC_symbol:TWF1 Unspecified TWF1 +OMIM:610933 skos:exactMatch UMLS:C1428449 Unspecified LRSAM1 +OMIM:610933 skos:exactMatch HGNC:25135 Unspecified LRSAM1 +OMIM:610933 skos:exactMatch HGNC_symbol:LRSAM1 Unspecified LRSAM1 +OMIM:609948 skos:exactMatch HGNC_symbol:RNF216 Unspecified RNF216 +OMIM:609948 skos:exactMatch HGNC:21698 Unspecified RNF216 +OMIM:609948 skos:exactMatch UMLS:C1864963 Unspecified RNF216 +OMIM:610930 skos:exactMatch HGNC:28185 Unspecified ORAI3 +OMIM:610930 skos:exactMatch UMLS:C1823407 Unspecified ORAI3 +OMIM:610930 skos:exactMatch HGNC_symbol:ORAI3 Unspecified ORAI3 +OMIM:610931 skos:exactMatch UMLS:C1823945 Unspecified ZFAT1 +OMIM:610931 skos:exactMatch HGNC_symbol:ZFAT Unspecified ZFAT1 +OMIM:610931 skos:exactMatch HGNC:19899 Unspecified ZFAT1 +OMIM:609952 skos:exactMatch UMLS:C1864962 Unspecified deafness, autosomal recessive 55 +OMIM:609953 skos:exactMatch UMLS:C1826770 Unspecified RAVER2 +OMIM:609953 skos:exactMatch HGNC_symbol:RAVER2 Unspecified RAVER2 +OMIM:609953 skos:exactMatch HGNC:25577 Unspecified RAVER2 +OMIM:609954 skos:exactMatch UMLS:C1864961 Unspecified asperger syndrome, susceptibility to, 4 +OMIM:609955 skos:exactMatch UMLS:C1864960 Unspecified fibromatosis, gingival, 3 +OMIM:103400 skos:exactMatch UMLS:C0001860 Unspecified ainhum +OMIM:609950 skos:exactMatch HGNC:30296 Unspecified RAVER1 +OMIM:609950 skos:exactMatch HGNC_symbol:RAVER1 Unspecified RAVER1 +OMIM:609950 skos:exactMatch UMLS:C1826769 Unspecified RAVER1 +OMIM:609951 skos:exactMatch HGNC_symbol:ZNF384 Unspecified ZNF384 +OMIM:609951 skos:exactMatch UMLS:C1420834 Unspecified ZNF384 +OMIM:609951 skos:exactMatch HGNC:11955 Unspecified ZNF384 +OMIM:610927 skos:exactMatch UMLS:C1970455 Unspecified systemic lupus erythematosus, susceptibility to, 9 +OMIM:609938 skos:exactMatch HGNC_symbol:CADM2 Unspecified CADM2 +OMIM:609938 skos:exactMatch HGNC:29849 Unspecified CADM2 +OMIM:609938 skos:exactMatch UMLS:C1428899 Unspecified CADM2 +OMIM:610928 skos:exactMatch HGNC:18122 Unspecified SOX17 +OMIM:610928 skos:exactMatch UMLS:C1425328 Unspecified SOX17 +OMIM:610928 skos:exactMatch HGNC_symbol:SOX17 Unspecified SOX17 +OMIM:609939 skos:exactMatch UMLS:C1835919 Unspecified systemic lupus erythematosus, susceptibility to, 6 +OMIM:610925 skos:exactMatch HGNC:18358 Unspecified IL17RC +OMIM:610925 skos:exactMatch HGNC_symbol:IL17RC Unspecified IL17RC +OMIM:610925 skos:exactMatch UMLS:C1425470 Unspecified IL17RC +OMIM:610925 skos:exactMatch UMLS:C4225324 Unspecified IL17RC +OMIM:610926 skos:exactMatch UMLS:C1858210 Unspecified tooth agenesis, selective, 5 +OMIM:609934 skos:exactMatch HGNC:19090 Unspecified EBF2 +OMIM:609934 skos:exactMatch HGNC_symbol:EBF2 Unspecified EBF2 +OMIM:609934 skos:exactMatch UMLS:C1426006 Unspecified EBF2 +OMIM:610923 skos:exactMatch UMLS:C1427017 Unspecified SLC35B4 +OMIM:610923 skos:exactMatch HGNC:20584 Unspecified SLC35B4 +OMIM:610923 skos:exactMatch HGNC_symbol:SLC35B4 Unspecified SLC35B4 +OMIM:610924 skos:exactMatch UMLS:C1826773 Unspecified RBCK1 +OMIM:610924 skos:exactMatch HGNC_symbol:RBCK1 Unspecified RBCK1 +OMIM:610924 skos:exactMatch HGNC:15864 Unspecified RBCK1 +OMIM:609935 skos:exactMatch HGNC_symbol:EBF4 Unspecified EBF4 +OMIM:609935 skos:exactMatch HGNC:29278 Unspecified EBF4 +OMIM:609935 skos:exactMatch UMLS:C1835920 Unspecified EBF4 +OMIM:609936 skos:exactMatch HGNC:11243 Unspecified SPIN1 +OMIM:609936 skos:exactMatch HGNC_symbol:SPIN1 Unspecified SPIN1 +OMIM:609936 skos:exactMatch UMLS:C1823107 Unspecified SPIN1 +OMIM:610921 skos:exactMatch UMLS:C1970456 Unspecified surfactant metabolism dysfunction, pulmonary, 3 +OMIM:610922 skos:exactMatch HGNC:1190 Unspecified NPAP1 +OMIM:610922 skos:exactMatch HGNC_symbol:NPAP1 Unspecified NPAP1 +OMIM:610922 skos:exactMatch UMLS:C1412887 Unspecified NPAP1 +OMIM:609937 skos:exactMatch UMLS:C1422800 Unspecified CDCA7 +OMIM:609937 skos:exactMatch HGNC_symbol:CDCA7 Unspecified CDCA7 +OMIM:609937 skos:exactMatch HGNC:14628 Unspecified CDCA7 +OMIM:610920 skos:exactMatch HGNC:25106 Unspecified GTPBP10 +OMIM:610920 skos:exactMatch HGNC_symbol:GTPBP10 Unspecified GTPBP10 +OMIM:610920 skos:exactMatch UMLS:C1825431 Unspecified GTPBP10 +OMIM:609941 skos:exactMatch UMLS:C1864968 Unspecified deafness, autosomal recessive 51 +OMIM:609942 skos:exactMatch ORPHA:648 Unspecified noonan syndrome 3 +OMIM:609942 skos:exactMatch UMLS:C1860991 Unspecified noonan syndrome 3 +OMIM:609944 skos:exactMatch UMLS:C1864966 Unspecified ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features +OMIM:610929 skos:exactMatch HGNC:21667 Unspecified ORAI2 +OMIM:610929 skos:exactMatch UMLS:C1823406 Unspecified ORAI2 +OMIM:610929 skos:exactMatch HGNC_symbol:ORAI2 Unspecified ORAI2 +OMIM:609927 skos:exactMatch UMLS:C1835921 Unspecified VPS37A +OMIM:609927 skos:exactMatch HGNC_symbol:VPS37A Unspecified VPS37A +OMIM:609927 skos:exactMatch HGNC:24928 Unspecified VPS37A +OMIM:610916 skos:exactMatch UMLS:C1538489 Unspecified NSUN2 +OMIM:610916 skos:exactMatch HGNC:25994 Unspecified NSUN2 +OMIM:610916 skos:exactMatch HGNC_symbol:NSUN2 Unspecified NSUN2 +OMIM:609928 skos:exactMatch HGNC:15906 Unspecified MYH7B +OMIM:609928 skos:exactMatch UMLS:C1423823 Unspecified MYH7B +OMIM:609928 skos:exactMatch HGNC_symbol:MYH7B Unspecified MYH7B +OMIM:610917 skos:exactMatch HGNC:16519 Unspecified RAB34 +OMIM:610917 skos:exactMatch HGNC_symbol:RAB34 Unspecified RAB34 +OMIM:610917 skos:exactMatch UMLS:C1424349 Unspecified RAB34 +OMIM:610914 skos:exactMatch HGNC_symbol:ENOX1 Unspecified ENOX1 +OMIM:610914 skos:exactMatch UMLS:C1970469 Unspecified ENOX1 +OMIM:610914 skos:exactMatch HGNC:25474 Unspecified ENOX1 +OMIM:609929 skos:exactMatch UMLS:C1538029 Unspecified MYH15 +OMIM:609929 skos:exactMatch HGNC_symbol:MYH15 Unspecified MYH15 +OMIM:609929 skos:exactMatch HGNC:31073 Unspecified MYH15 +OMIM:610915 skos:exactMatch UMLS:C1970458 Unspecified osteogenesis imperfecta, iia 8 +OMIM:609923 skos:exactMatch UMLS:C1835923 Unspecified retinitis pigmentosa 31 +OMIM:610912 skos:exactMatch HGNC:33188 Unspecified AMTN +OMIM:610912 skos:exactMatch UMLS:C1823188 Unspecified AMTN +OMIM:610912 skos:exactMatch HGNC_symbol:AMTN Unspecified AMTN +OMIM:609924 skos:exactMatch UMLS:C1835922 Unspecified aminoacylase 1 deficiency +OMIM:610913 skos:exactMatch UMLS:C1970470 Unspecified surfactant metabolism dysfunction, pulmonary, 2 +OMIM:610910 skos:exactMatch UMLS:C1970472 Unspecified pulmonary alveolar proteinosis, acquired +OMIM:609925 skos:exactMatch HGNC:23028 Unspecified DPEP2 +OMIM:609925 skos:exactMatch HGNC_symbol:DPEP2 Unspecified DPEP2 +OMIM:609925 skos:exactMatch UMLS:C1427861 Unspecified DPEP2 +OMIM:610911 skos:exactMatch HGNC:29216 Unspecified ARHGAP31 +OMIM:610911 skos:exactMatch HGNC_symbol:ARHGAP31 Unspecified ARHGAP31 +OMIM:610911 skos:exactMatch UMLS:C1970471 Unspecified ARHGAP31 +OMIM:609926 skos:exactMatch HGNC:23029 Unspecified DPEP3 +OMIM:609926 skos:exactMatch UMLS:C1427862 Unspecified DPEP3 +OMIM:609926 skos:exactMatch HGNC_symbol:DPEP3 Unspecified DPEP3 +OMIM:609930 skos:exactMatch UMLS:C1826331 Unspecified MYL6B +OMIM:609930 skos:exactMatch HGNC_symbol:MYL6B Unspecified MYL6B +OMIM:609930 skos:exactMatch HGNC:29823 Unspecified MYL6B +OMIM:609931 skos:exactMatch UMLS:C1417551 Unspecified MYL6 +OMIM:609931 skos:exactMatch HGNC:7587 Unspecified MYL6 +OMIM:609931 skos:exactMatch HGNC_symbol:MYL6 Unspecified MYL6 +OMIM:609932 skos:exactMatch HGNC_symbol:SPACA4 Unspecified SPACA4 +OMIM:609932 skos:exactMatch HGNC:16441 Unspecified SPACA4 +OMIM:609932 skos:exactMatch UMLS:C1424282 Unspecified SPACA4 +OMIM:609933 skos:exactMatch HGNC_symbol:REG3G Unspecified REG3G +OMIM:609933 skos:exactMatch UMLS:C1538824 Unspecified REG3G +OMIM:609933 skos:exactMatch HGNC:29595 Unspecified REG3G +OMIM:610918 skos:exactMatch HGNC_symbol:SELENOM Unspecified SELENOM +OMIM:610918 skos:exactMatch HGNC:30397 Unspecified SELENOM +OMIM:610918 skos:exactMatch UMLS:C1970457 Unspecified SELENOM +OMIM:610919 skos:exactMatch HGNC:16239 Unspecified GTPBP5 +OMIM:610919 skos:exactMatch HGNC_symbol:MTG2 Unspecified GTPBP5 +OMIM:610919 skos:exactMatch UMLS:C1424114 Unspecified GTPBP5 +OMIM:609916 skos:exactMatch HGNC:24002 Unspecified AZI2 +OMIM:609916 skos:exactMatch UMLS:C1538310 Unspecified AZI2 +OMIM:609916 skos:exactMatch HGNC_symbol:AZI2 Unspecified AZI2 +OMIM:609917 skos:exactMatch HGNC_symbol:ERI3 Unspecified PRNPIP +OMIM:609917 skos:exactMatch UMLS:C1424867 Unspecified PRNPIP +OMIM:609917 skos:exactMatch HGNC:17276 Unspecified PRNPIP +OMIM:610906 skos:exactMatch UMLS:C1970474 Unspecified asthma-related traits, susceptibility to, 4 +OMIM:609918 skos:exactMatch UMLS:C1835925 Unspecified gallbladder disease 2 +OMIM:610903 skos:exactMatch HGNC_symbol:VPS36 Unspecified VPS36 +OMIM:610903 skos:exactMatch HGNC:20312 Unspecified VPS36 +OMIM:610903 skos:exactMatch UMLS:C1823640 Unspecified VPS36 +OMIM:609919 skos:exactMatch UMLS:C1835924 Unspecified gallbladder disease 3 +OMIM:610904 skos:exactMatch HGNC:17028 Unspecified SNF8 +OMIM:610904 skos:exactMatch UMLS:C1822797 Unspecified SNF8 +OMIM:610904 skos:exactMatch HGNC_symbol:SNF8 Unspecified SNF8 +OMIM:610901 skos:exactMatch HGNC_symbol:CHMP6 Unspecified CHMP6 +OMIM:610901 skos:exactMatch HGNC:25675 Unspecified CHMP6 +OMIM:610901 skos:exactMatch UMLS:C1538461 Unspecified CHMP6 +OMIM:609912 skos:exactMatch UMLS:C5436525 Unspecified KAT8 +OMIM:609912 skos:exactMatch HGNC_symbol:KAT8 Unspecified KAT8 +OMIM:609912 skos:exactMatch HGNC:17933 Unspecified KAT8 +OMIM:609912 skos:exactMatch UMLS:C1425187 Unspecified KAT8 +OMIM:609913 skos:exactMatch UMLS:C1835927 Unspecified retinitis pigmentosa 32 +OMIM:609913 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 32 +OMIM:610902 skos:exactMatch UMLS:C1427206 Unspecified VTA1 +OMIM:610902 skos:exactMatch HGNC:20954 Unspecified VTA1 +OMIM:610902 skos:exactMatch HGNC_symbol:VTA1 Unspecified VTA1 +OMIM:609914 skos:exactMatch HGNC_symbol:AQP11 Unspecified AQP11 +OMIM:609914 skos:exactMatch HGNC:19940 Unspecified AQP11 +OMIM:609914 skos:exactMatch UMLS:C1426548 Unspecified AQP11 +OMIM:610900 skos:exactMatch HGNC_symbol:CHMP5 Unspecified CHMP5 +OMIM:610900 skos:exactMatch HGNC:26942 Unspecified CHMP5 +OMIM:610900 skos:exactMatch UMLS:C1538460 Unspecified CHMP5 +OMIM:609915 skos:exactMatch UMLS:C1835926 Unspecified cardiomyopathy, dilated, 1q +OMIM:609920 skos:exactMatch UMLS:C1421905 Unspecified CDH22 +OMIM:609920 skos:exactMatch HGNC_symbol:CDH22 Unspecified CDH22 +OMIM:609920 skos:exactMatch HGNC:13251 Unspecified CDH22 +OMIM:609921 skos:exactMatch HGNC_symbol:LRP10 Unspecified LRP10 +OMIM:609921 skos:exactMatch UMLS:C1422751 Unspecified LRP10 +OMIM:609921 skos:exactMatch HGNC:14553 Unspecified LRP10 +OMIM:609922 skos:exactMatch UMLS:C1539336 Unspecified EHBP1 +OMIM:609922 skos:exactMatch HGNC:29144 Unspecified EHBP1 +OMIM:609922 skos:exactMatch HGNC_symbol:EHBP1 Unspecified EHBP1 +OMIM:610909 skos:exactMatch HGNC:25782 Unspecified MCMBP +OMIM:610909 skos:exactMatch UMLS:C1538419 Unspecified MCMBP +OMIM:610909 skos:exactMatch HGNC_symbol:MCMBP Unspecified MCMBP +OMIM:610907 skos:exactMatch HGNC_symbol:VPS25 Unspecified VPS25 +OMIM:610907 skos:exactMatch HGNC:28122 Unspecified VPS25 +OMIM:610907 skos:exactMatch UMLS:C1823637 Unspecified VPS25 +OMIM:610908 skos:exactMatch UMLS:C1970473 Unspecified autism, susceptibility to, 13 +OMIM:607329 skos:exactMatch UMLS:C1846430 Unspecified hypertension, essential, susceptibility to, 3 +OMIM:607328 skos:exactMatch UMLS:C1825463 Unspecified HEXIM1 +OMIM:607328 skos:exactMatch HGNC_symbol:HEXIM1 Unspecified HEXIM1 +OMIM:607328 skos:exactMatch HGNC:24953 Unspecified HEXIM1 +OMIM:607327 skos:exactMatch HGNC:16746 Unspecified MBNL2 +OMIM:607327 skos:exactMatch UMLS:C1424516 Unspecified MBNL2 +OMIM:607327 skos:exactMatch HGNC_symbol:MBNL2 Unspecified MBNL2 +OMIM:610978 skos:exactMatch UMLS:C1970269 Unspecified choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction +OMIM:609989 skos:exactMatch UMLS:C1864944 Unspecified metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands +OMIM:610979 skos:exactMatch UMLS:C1825477 Unspecified PPIP5K1 +OMIM:610979 skos:exactMatch HGNC:29023 Unspecified PPIP5K1 +OMIM:610979 skos:exactMatch HGNC_symbol:PPIP5K1 Unspecified PPIP5K1 +OMIM:610976 skos:exactMatch UMLS:C1970411 Unspecified APOBEC3H +OMIM:610976 skos:exactMatch HGNC_symbol:APOBEC3H Unspecified APOBEC3H +OMIM:610976 skos:exactMatch HGNC:24100 Unspecified APOBEC3H +OMIM:610977 skos:exactMatch UMLS:C1970410 Unspecified None +OMIM:610977 skos:exactMatch HGNC_symbol:MFSD10 Unspecified None +OMIM:610977 skos:exactMatch HGNC:16894 Unspecified None +OMIM:139400 skos:exactMatch UMLS:C1841698 Unspecified hair whorl +OMIM:139400 skos:exactMatch UMLS:C1185616 Unspecified hair whorl +OMIM:610974 skos:exactMatch HGNC:24605 Unspecified ZNF521 +OMIM:610974 skos:exactMatch HGNC_symbol:ZNF521 Unspecified ZNF521 +OMIM:610974 skos:exactMatch UMLS:C1428393 Unspecified ZNF521 +OMIM:610975 skos:exactMatch HGNC_symbol:SEBOX Unspecified None +OMIM:610975 skos:exactMatch HGNC:32942 Unspecified None +OMIM:610975 skos:exactMatch UMLS:C1970412 Unspecified None +OMIM:610972 skos:exactMatch HGNC:30801 Unspecified AJAP1 +OMIM:610972 skos:exactMatch UMLS:C1826621 Unspecified AJAP1 +OMIM:610972 skos:exactMatch HGNC_symbol:AJAP1 Unspecified AJAP1 +OMIM:610973 skos:exactMatch UMLS:C1428604 Unspecified MPP7 +OMIM:610973 skos:exactMatch HGNC_symbol:MPP7 Unspecified MPP7 +OMIM:610973 skos:exactMatch HGNC:26542 Unspecified MPP7 +OMIM:610970 skos:exactMatch UMLS:C1823481 Unspecified TRAPPC2L +OMIM:610970 skos:exactMatch HGNC_symbol:TRAPPC2L Unspecified TRAPPC2L +OMIM:610970 skos:exactMatch HGNC:30887 Unspecified TRAPPC2L +OMIM:619315 skos:exactMatch HGNC:33941 Unspecified SLC35E2B +OMIM:619315 skos:exactMatch HGNC_symbol:SLC35E2B Unspecified SLC35E2B +OMIM:610971 skos:exactMatch HGNC_symbol:TRAPPC4 Unspecified TRAPPC4 +OMIM:610971 skos:exactMatch HGNC:19943 Unspecified TRAPPC4 +OMIM:610971 skos:exactMatch UMLS:C1426551 Unspecified TRAPPC4 +OMIM:610971 skos:exactMatch UMLS:C5394027 Unspecified TRAPPC4 +OMIM:619316 skos:exactMatch HGNC_symbol:TRANK1 Unspecified TRANK1 +OMIM:619316 skos:exactMatch HGNC:29011 Unspecified TRANK1 +OMIM:619308 skos:exactMatch HGNC_symbol:PPM1E Unspecified PPM1E +OMIM:619308 skos:exactMatch HGNC:19322 Unspecified PPM1E +OMIM:619309 skos:exactMatch HGNC_symbol:PPM1F Unspecified PPM1F +OMIM:619309 skos:exactMatch HGNC:19388 Unspecified PPM1F +OMIM:609990 skos:exactMatch UMLS:C1864943 Unspecified trichoscyphodysplasia +OMIM:609991 skos:exactMatch HGNC:21184 Unspecified FNDC1 +OMIM:609991 skos:exactMatch HGNC_symbol:FNDC1 Unspecified FNDC1 +OMIM:609991 skos:exactMatch UMLS:C1427396 Unspecified FNDC1 +OMIM:619307 skos:exactMatch HGNC_symbol:MRS2 Unspecified MRS2 +OMIM:619307 skos:exactMatch HGNC:13785 Unspecified MRS2 +OMIM:607333 skos:exactMatch HGNC:13205 Unspecified STRADB +OMIM:607333 skos:exactMatch UMLS:C1421877 Unspecified STRADB +OMIM:607333 skos:exactMatch HGNC_symbol:STRADB Unspecified STRADB +OMIM:609996 skos:exactMatch HGNC_symbol:COL28A1 Unspecified COL28A1 +OMIM:609996 skos:exactMatch HGNC:22442 Unspecified COL28A1 +OMIM:609996 skos:exactMatch UMLS:C1824774 Unspecified COL28A1 +OMIM:607332 skos:exactMatch HGNC_symbol:NREP Unspecified NREP +OMIM:607332 skos:exactMatch HGNC:16834 Unspecified NREP +OMIM:607332 skos:exactMatch UMLS:C1424582 Unspecified NREP +OMIM:609997 skos:exactMatch UMLS:C1425462 Unspecified HINT2 +OMIM:609997 skos:exactMatch HGNC_symbol:HINT2 Unspecified HINT2 +OMIM:609997 skos:exactMatch HGNC:18344 Unspecified HINT2 +OMIM:607331 skos:exactMatch HGNC_symbol:RP9 Unspecified RP9 +OMIM:607331 skos:exactMatch UMLS:C1419617 Unspecified RP9 +OMIM:607331 skos:exactMatch HGNC:10288 Unspecified RP9 +OMIM:609998 skos:exactMatch UMLS:C1425533 Unspecified HINT3 +OMIM:609998 skos:exactMatch HGNC_symbol:HINT3 Unspecified HINT3 +OMIM:609998 skos:exactMatch HGNC:18468 Unspecified HINT3 +OMIM:607330 skos:exactMatch ORPHA:46059 Unspecified lathosterolosis +OMIM:607330 skos:exactMatch UMLS:C1846421 Unspecified lathosterolosis +OMIM:609999 skos:exactMatch UMLS:C1823352 Unspecified SYNDIG1L +OMIM:609999 skos:exactMatch HGNC:32388 Unspecified SYNDIG1L +OMIM:609999 skos:exactMatch HGNC_symbol:SYNDIG1L Unspecified SYNDIG1L +OMIM:609992 skos:exactMatch HGNC_symbol:POP5 Unspecified POP5 +OMIM:609992 skos:exactMatch HGNC:17689 Unspecified POP5 +OMIM:609992 skos:exactMatch UMLS:C1425038 Unspecified POP5 +OMIM:607337 skos:exactMatch HGNC_symbol:BEST3 Unspecified BEST3 +OMIM:607337 skos:exactMatch UMLS:C1826423 Unspecified BEST3 +OMIM:607337 skos:exactMatch HGNC:17105 Unspecified BEST3 +OMIM:607336 skos:exactMatch HGNC_symbol:BEST4 Unspecified BEST4 +OMIM:607336 skos:exactMatch UMLS:C1826424 Unspecified BEST4 +OMIM:607336 skos:exactMatch HGNC:17106 Unspecified BEST4 +OMIM:609993 skos:exactMatch UMLS:C1864942 Unspecified osteosclerosis with ichthyosis and premature ovarian failure +OMIM:607335 skos:exactMatch HGNC_symbol:BEST2 Unspecified BEST2 +OMIM:607335 skos:exactMatch UMLS:C1826422 Unspecified BEST2 +OMIM:607335 skos:exactMatch HGNC:17107 Unspecified BEST2 +OMIM:609994 skos:exactMatch UMLS:C1864941 Unspecified myopia 11, autosomal dominant +OMIM:607334 skos:exactMatch UMLS:C1823480 Unspecified TRAK2 +OMIM:607334 skos:exactMatch HGNC:13206 Unspecified TRAK2 +OMIM:607334 skos:exactMatch HGNC_symbol:TRAK2 Unspecified TRAK2 +OMIM:609995 skos:exactMatch UMLS:C1864940 Unspecified myopia 12, autosomal dominant +OMIM:607319 skos:exactMatch HGNC:20255 Unspecified SFMBT1 +OMIM:607319 skos:exactMatch UMLS:C1426812 Unspecified SFMBT1 +OMIM:607319 skos:exactMatch HGNC_symbol:SFMBT1 Unspecified SFMBT1 +OMIM:607318 skos:exactMatch HGNC:17171 Unspecified LOXL4 +OMIM:607318 skos:exactMatch HGNC_symbol:LOXL4 Unspecified LOXL4 +OMIM:607318 skos:exactMatch UMLS:C1424794 Unspecified LOXL4 +OMIM:610969 skos:exactMatch UMLS:C1426510 Unspecified TRAPPC1 +OMIM:610969 skos:exactMatch HGNC_symbol:TRAPPC1 Unspecified TRAPPC1 +OMIM:610969 skos:exactMatch HGNC:19894 Unspecified TRAPPC1 +OMIM:607317 skos:exactMatch ORPHA:95434 Unspecified spinocerebellar ataxia, autosomal recessive 4 +OMIM:607317 skos:exactMatch UMLS:C1846492 Unspecified spinocerebellar ataxia, autosomal recessive 4 +OMIM:140400 skos:exactMatch UMLS:C1841658 Unspecified progressive familial heart block, iia 2 +OMIM:610967 skos:exactMatch UMLS:C2931093 Unspecified osteogenesis imperfecta, iia 5 +OMIM:609978 skos:exactMatch HGNC:16018 Unspecified CADPS2 +OMIM:609978 skos:exactMatch HGNC_symbol:CADPS2 Unspecified CADPS2 +OMIM:609978 skos:exactMatch UMLS:C1423913 Unspecified CADPS2 +OMIM:610968 skos:exactMatch UMLS:C3151218 Unspecified osteogenesis imperfecta, iia 11 +OMIM:609979 skos:exactMatch HGNC_symbol:VGLL2 Unspecified VGLL2 +OMIM:609979 skos:exactMatch HGNC:20232 Unspecified VGLL2 +OMIM:609979 skos:exactMatch UMLS:C1426795 Unspecified VGLL2 +OMIM:610965 skos:exactMatch UMLS:C1970416 Unspecified xfe progeroid syndrome +OMIM:610966 skos:exactMatch UMLS:C1970415 Unspecified FTO +OMIM:610966 skos:exactMatch UMLS:C2752001 Unspecified FTO +OMIM:610966 skos:exactMatch HGNC:24678 Unspecified FTO +OMIM:610966 skos:exactMatch UMLS:C4225492 Unspecified FTO +OMIM:610966 skos:exactMatch HGNC_symbol:FTO Unspecified FTO +OMIM:610963 skos:exactMatch UMLS:C1822789 Unspecified SMG6 +OMIM:610963 skos:exactMatch HGNC_symbol:SMG6 Unspecified SMG6 +OMIM:610963 skos:exactMatch HGNC:17809 Unspecified SMG6 +OMIM:619300 skos:exactMatch HGNC_symbol:ZNF394 Unspecified ZNF394 +OMIM:619300 skos:exactMatch HGNC:18832 Unspecified ZNF394 +OMIM:610964 skos:exactMatch UMLS:C1822790 Unspecified SMG7 +OMIM:610964 skos:exactMatch HGNC_symbol:SMG7 Unspecified SMG7 +OMIM:610964 skos:exactMatch HGNC:16792 Unspecified SMG7 +OMIM:610961 skos:exactMatch HGNC_symbol:MIR376B Unspecified MIR376B +OMIM:610961 skos:exactMatch UMLS:C1826016 Unspecified MIR376B +OMIM:610961 skos:exactMatch HGNC:32066 Unspecified MIR376B +OMIM:610962 skos:exactMatch HGNC_symbol:SMG5 Unspecified SMG5 +OMIM:610962 skos:exactMatch HGNC:24644 Unspecified SMG5 +OMIM:610962 skos:exactMatch UMLS:C1822788 Unspecified SMG5 +OMIM:259270 skos:exactMatch UMLS:C1850185 Unspecified osteodysplasty, precocious, of danks, mayne, and kozlowski +OMIM:619305 skos:exactMatch HGNC_symbol:TC2N Unspecified TC2N +OMIM:619305 skos:exactMatch HGNC:19859 Unspecified TC2N +OMIM:610960 skos:exactMatch HGNC_symbol:MIR376A2 Unspecified MIR376A2 +OMIM:610960 skos:exactMatch HGNC:32532 Unspecified MIR376A2 +OMIM:610960 skos:exactMatch UMLS:C1970417 Unspecified MIR376A2 +OMIM:609980 skos:exactMatch HGNC:24327 Unspecified VGLL3 +OMIM:609980 skos:exactMatch HGNC_symbol:VGLL3 Unspecified VGLL3 +OMIM:609980 skos:exactMatch UMLS:C1823631 Unspecified VGLL3 +OMIM:609985 skos:exactMatch UMLS:C1864946 Unspecified panic disorder 3 +OMIM:609986 skos:exactMatch HGNC:16394 Unspecified CARD6 +OMIM:609986 skos:exactMatch UMLS:C1424245 Unspecified CARD6 +OMIM:609986 skos:exactMatch HGNC_symbol:CARD6 Unspecified CARD6 +OMIM:607321 skos:exactMatch HGNC:14073 Unspecified ATP1A4 +OMIM:607321 skos:exactMatch UMLS:C1422389 Unspecified ATP1A4 +OMIM:607321 skos:exactMatch HGNC_symbol:ATP1A4 Unspecified ATP1A4 +OMIM:609987 skos:exactMatch UMLS:C1823137 Unspecified STRA8 +OMIM:609987 skos:exactMatch HGNC:30653 Unspecified STRA8 +OMIM:609987 skos:exactMatch HGNC_symbol:STRA8 Unspecified STRA8 +OMIM:607320 skos:exactMatch UMLS:C1425925 Unspecified RASGRP4 +OMIM:607320 skos:exactMatch HGNC_symbol:RASGRP4 Unspecified RASGRP4 +OMIM:607320 skos:exactMatch HGNC:18958 Unspecified RASGRP4 +OMIM:609988 skos:exactMatch HGNC:28883 Unspecified PPA2 +OMIM:609988 skos:exactMatch HGNC_symbol:PPA2 Unspecified PPA2 +OMIM:609988 skos:exactMatch UMLS:C1826647 Unspecified PPA2 +OMIM:609981 skos:exactMatch UMLS:C1864947 Unspecified immunodeficiency 54 +OMIM:607326 skos:exactMatch UMLS:C3888088 Unspecified smith-mccort dysplasia 1 +OMIM:609982 skos:exactMatch HGNC:13488 Unspecified VPS4A +OMIM:609982 skos:exactMatch UMLS:C1422018 Unspecified VPS4A +OMIM:609982 skos:exactMatch HGNC_symbol:VPS4A Unspecified VPS4A +OMIM:607325 skos:exactMatch HGNC:14132 Unspecified DOCK9 +OMIM:607325 skos:exactMatch HGNC_symbol:DOCK9 Unspecified DOCK9 +OMIM:607325 skos:exactMatch UMLS:C1422426 Unspecified DOCK9 +OMIM:609983 skos:exactMatch UMLS:C1420080 Unspecified VPS4B +OMIM:609983 skos:exactMatch HGNC:10895 Unspecified VPS4B +OMIM:609983 skos:exactMatch HGNC_symbol:VPS4B Unspecified VPS4B +OMIM:607324 skos:exactMatch UMLS:C1846452 Unspecified polydactyly, postaxial, iia a3 +OMIM:607323 skos:exactMatch ORPHA:93293 Unspecified duane-radial ray syndrome +OMIM:607323 skos:exactMatch UMLS:C1623209 Unspecified duane-radial ray syndrome +OMIM:607323 skos:exactMatch UMLS:C0751084 Unspecified duane-radial ray syndrome +OMIM:607323 skos:exactMatch ORPHA:959 Unspecified duane-radial ray syndrome +OMIM:609984 skos:exactMatch HGNC:25468 Unspecified ZWILCH +OMIM:609984 skos:exactMatch UMLS:C1824085 Unspecified ZWILCH +OMIM:609984 skos:exactMatch HGNC_symbol:ZWILCH Unspecified ZWILCH +OMIM:607308 skos:exactMatch UMLS:C1268717 Unspecified mammographic density +OMIM:607307 skos:exactMatch HGNC:21015 Unspecified FILIP1 +OMIM:607307 skos:exactMatch UMLS:C1427243 Unspecified FILIP1 +OMIM:607307 skos:exactMatch HGNC_symbol:FILIP1 Unspecified FILIP1 +OMIM:607306 skos:exactMatch UMLS:C0919429 Unspecified SRD5A2 +OMIM:607306 skos:exactMatch HGNC:11285 Unspecified SRD5A2 +OMIM:607306 skos:exactMatch HGNC_symbol:SRD5A2 Unspecified SRD5A2 +OMIM:610958 skos:exactMatch UMLS:C1970419 Unspecified AGPAT9 +OMIM:610958 skos:exactMatch HGNC_symbol:GPAT3 Unspecified AGPAT9 +OMIM:610958 skos:exactMatch HGNC:28157 Unspecified AGPAT9 +OMIM:607305 skos:exactMatch HGNC_symbol:MDS2 Unspecified None +OMIM:607305 skos:exactMatch UMLS:C1825956 Unspecified None +OMIM:607305 skos:exactMatch HGNC:29633 Unspecified None +OMIM:607305 skos:exactMatch UMLS:C1846519 Unspecified None +OMIM:610959 skos:exactMatch HGNC_symbol:MIR376A1 Unspecified MIR376A1 +OMIM:610959 skos:exactMatch HGNC:31869 Unspecified MIR376A1 +OMIM:610959 skos:exactMatch UMLS:C1970418 Unspecified MIR376A1 +OMIM:610956 skos:exactMatch UMLS:C1824885 Unspecified DARS2 +OMIM:610956 skos:exactMatch HGNC_symbol:DARS2 Unspecified DARS2 +OMIM:610956 skos:exactMatch HGNC:25538 Unspecified DARS2 +OMIM:609967 skos:exactMatch UMLS:C1825277 Unspecified None +OMIM:609967 skos:exactMatch HGNC:24130 Unspecified None +OMIM:609967 skos:exactMatch HGNC_symbol:NIBAN3 Unspecified None +OMIM:609968 skos:exactMatch UMLS:C1864952 Unspecified hyperinsulinemic hypoglycemia, familial, 5 +OMIM:610957 skos:exactMatch UMLS:C1823881 Unspecified YARS2 +OMIM:610957 skos:exactMatch HGNC:24249 Unspecified YARS2 +OMIM:610957 skos:exactMatch HGNC_symbol:YARS2 Unspecified YARS2 +OMIM:610957 skos:exactMatch UMLS:C3150802 Unspecified YARS2 +OMIM:609969 skos:exactMatch HGNC:24950 Unspecified None +OMIM:609969 skos:exactMatch HGNC_symbol:SBSN Unspecified None +OMIM:609969 skos:exactMatch UMLS:C1822617 Unspecified None +OMIM:610954 skos:exactMatch UMLS:C1970431 Unspecified pitt-hopkins syndrome +OMIM:610954 skos:exactMatch ORPHA:2896 Unspecified pitt-hopkins syndrome +OMIM:610955 skos:exactMatch UMLS:C1426550 Unspecified TRAPPC3 +OMIM:610955 skos:exactMatch HGNC_symbol:TRAPPC3 Unspecified TRAPPC3 +OMIM:610955 skos:exactMatch HGNC:19942 Unspecified TRAPPC3 +OMIM:262890 skos:exactMatch UMLS:C0796149 Unspecified scott syndrome +OMIM:607309 skos:exactMatch HGNC_symbol:AP1M2 Unspecified AP1M2 +OMIM:607309 skos:exactMatch HGNC:558 Unspecified AP1M2 +OMIM:607309 skos:exactMatch UMLS:C1412438 Unspecified AP1M2 +OMIM:610952 skos:exactMatch HGNC:15762 Unspecified CRNKL1 +OMIM:610952 skos:exactMatch UMLS:C1423711 Unspecified CRNKL1 +OMIM:610952 skos:exactMatch HGNC_symbol:CRNKL1 Unspecified CRNKL1 +OMIM:610953 skos:exactMatch HGNC:26220 Unspecified PIF1 +OMIM:610953 skos:exactMatch HGNC_symbol:PIF1 Unspecified PIF1 +OMIM:610953 skos:exactMatch UMLS:C1826584 Unspecified PIF1 +OMIM:610950 skos:exactMatch HGNC:23142 Unspecified SYT16 +OMIM:610950 skos:exactMatch HGNC_symbol:SYT16 Unspecified SYT16 +OMIM:610950 skos:exactMatch UMLS:C1823166 Unspecified SYT16 +OMIM:610951 skos:exactMatch ORPHA:228366 Unspecified ceroid lipofuscinosis, neuronal, 7 +OMIM:610951 skos:exactMatch UMLS:C1838571 Unspecified ceroid lipofuscinosis, neuronal, 7 +OMIM:610951 skos:exactMatch ORPHA:168491 Unspecified ceroid lipofuscinosis, neuronal, 7 +OMIM:607311 skos:exactMatch UMLS:C1366500 Unspecified PGR +OMIM:607311 skos:exactMatch HGNC_symbol:PGR Unspecified PGR +OMIM:607311 skos:exactMatch HGNC:8910 Unspecified PGR +OMIM:609974 skos:exactMatch HGNC_symbol:CDH9 Unspecified CDH9 +OMIM:609974 skos:exactMatch UMLS:C1413283 Unspecified CDH9 +OMIM:609974 skos:exactMatch HGNC:1768 Unspecified CDH9 +OMIM:609975 skos:exactMatch UMLS:C1864948 Unspecified hyperinsulinemic hypoglycemia, familial, 4 +OMIM:607310 skos:exactMatch UMLS:C1412205 Unspecified ADAM7 +OMIM:607310 skos:exactMatch HGNC_symbol:ADAM7 Unspecified ADAM7 +OMIM:607310 skos:exactMatch HGNC:214 Unspecified ADAM7 +OMIM:609976 skos:exactMatch HGNC_symbol:HIF3A Unspecified HIF3A +OMIM:609976 skos:exactMatch HGNC:15825 Unspecified HIF3A +OMIM:609976 skos:exactMatch UMLS:C1423757 Unspecified HIF3A +OMIM:609977 skos:exactMatch HGNC_symbol:CDCA8 Unspecified CDCA8 +OMIM:609977 skos:exactMatch HGNC:14629 Unspecified CDCA8 +OMIM:609977 skos:exactMatch UMLS:C1422801 Unspecified CDCA8 +OMIM:609970 skos:exactMatch HGNC_symbol:HES2 Unspecified HES2 +OMIM:609970 skos:exactMatch UMLS:C1539666 Unspecified HES2 +OMIM:609970 skos:exactMatch HGNC:16005 Unspecified HES2 +OMIM:607315 skos:exactMatch HGNC:13714 Unspecified CABP5 +OMIM:607315 skos:exactMatch HGNC_symbol:CABP5 Unspecified CABP5 +OMIM:607315 skos:exactMatch UMLS:C1422158 Unspecified CABP5 +OMIM:607314 skos:exactMatch HGNC:1385 Unspecified CABP2 +OMIM:607314 skos:exactMatch UMLS:C1413054 Unspecified CABP2 +OMIM:607314 skos:exactMatch HGNC_symbol:CABP2 Unspecified CABP2 +OMIM:609971 skos:exactMatch HGNC:26226 Unspecified HES3 +OMIM:609971 skos:exactMatch HGNC_symbol:HES3 Unspecified HES3 +OMIM:609971 skos:exactMatch UMLS:C1825461 Unspecified HES3 +OMIM:609972 skos:exactMatch HGNC_symbol:ACOT2 Unspecified ACOT2 +OMIM:609972 skos:exactMatch HGNC:18431 Unspecified ACOT2 +OMIM:609972 skos:exactMatch UMLS:C1825828 Unspecified ACOT2 +OMIM:607313 skos:exactMatch UMLS:C4551964 Unspecified gaze palsy, familial horizontal, with progressive scoliosis 1 +OMIM:607313 skos:exactMatch UMLS:C4760875 Unspecified gaze palsy, familial horizontal, with progressive scoliosis 1 +OMIM:607312 skos:exactMatch HGNC_symbol:ZC3HAV1 Unspecified ZC3HAV1 +OMIM:607312 skos:exactMatch HGNC:23721 Unspecified ZC3HAV1 +OMIM:607312 skos:exactMatch UMLS:C1428222 Unspecified ZC3HAV1 +OMIM:609973 skos:exactMatch UMLS:C1426072 Unspecified HCN3 +OMIM:609973 skos:exactMatch HGNC_symbol:HCN3 Unspecified HCN3 +OMIM:609973 skos:exactMatch HGNC:19183 Unspecified HCN3 +OMIM:610949 skos:exactMatch HGNC_symbol:SYT14 Unspecified SYT14 +OMIM:610949 skos:exactMatch UMLS:C1427944 Unspecified SYT14 +OMIM:610949 skos:exactMatch HGNC:23143 Unspecified SYT14 +OMIM:610947 skos:exactMatch UMLS:C1970440 Unspecified coronary artery disease, autosomal dominant 2 +OMIM:610948 skos:exactMatch UMLS:C1970439 Unspecified hypertension, essential, susceptibility to, 7 +OMIM:610945 skos:exactMatch HGNC:31617 Unspecified MIR296 +OMIM:610945 skos:exactMatch UMLS:C1537863 Unspecified MIR296 +OMIM:610945 skos:exactMatch HGNC_symbol:MIR296 Unspecified MIR296 +OMIM:609956 skos:exactMatch UMLS:C1428951 Unspecified RAB37 +OMIM:609956 skos:exactMatch HGNC_symbol:RAB37 Unspecified RAB37 +OMIM:609956 skos:exactMatch HGNC:30268 Unspecified RAB37 +OMIM:272200 skos:exactMatch ORPHA:585 Unspecified multiple sulfatase deficiency +OMIM:272200 skos:exactMatch UMLS:C0268263 Unspecified multiple sulfatase deficiency +OMIM:610946 skos:exactMatch HGNC:31759 Unspecified MIR133B +OMIM:610946 skos:exactMatch HGNC_symbol:MIR133B Unspecified MIR133B +OMIM:610946 skos:exactMatch UMLS:C1537784 Unspecified MIR133B +OMIM:609957 skos:exactMatch UMLS:C1538709 Unspecified PPM1J +OMIM:609957 skos:exactMatch HGNC_symbol:PPM1J Unspecified PPM1J +OMIM:609957 skos:exactMatch HGNC:20785 Unspecified PPM1J +OMIM:609958 skos:exactMatch UMLS:C1864959 Unspecified asthma-related traits, susceptibility to, 3 +OMIM:610943 skos:exactMatch HGNC:31592 Unspecified MIR215 +OMIM:610943 skos:exactMatch UMLS:C1537851 Unspecified MIR215 +OMIM:610943 skos:exactMatch HGNC_symbol:MIR215 Unspecified MIR215 +OMIM:609959 skos:exactMatch HGNC_symbol:MYADM Unspecified MYADM +OMIM:609959 skos:exactMatch UMLS:C1417520 Unspecified MYADM +OMIM:609959 skos:exactMatch HGNC:7544 Unspecified MYADM +OMIM:610944 skos:exactMatch HGNC:31593 Unspecified MIR216 +OMIM:610944 skos:exactMatch HGNC_symbol:MIR216A Unspecified MIR216 +OMIM:610944 skos:exactMatch UMLS:C1537852 Unspecified MIR216 +OMIM:610941 skos:exactMatch HGNC_symbol:MIR194-2 Unspecified MIR194-2 +OMIM:610941 skos:exactMatch HGNC:31565 Unspecified MIR194-2 +OMIM:610941 skos:exactMatch UMLS:C1537828 Unspecified MIR194-2 +OMIM:610942 skos:exactMatch HGNC:31582 Unspecified MIR204 +OMIM:610942 skos:exactMatch UMLS:C4225493 Unspecified MIR204 +OMIM:610942 skos:exactMatch HGNC_symbol:MIR204 Unspecified MIR204 +OMIM:610942 skos:exactMatch UMLS:C1537842 Unspecified MIR204 +OMIM:259250 skos:exactMatch UMLS:C1850186 Unspecified osteodysplasia, familial, anderson iia +OMIM:610940 skos:exactMatch HGNC_symbol:MIR194-1 Unspecified MIR194-1 +OMIM:610940 skos:exactMatch HGNC:31564 Unspecified MIR194-1 +OMIM:610940 skos:exactMatch UMLS:C1537827 Unspecified MIR194-1 +OMIM:152400 skos:exactMatch UMLS:C1835357 Unspecified lipoprotein, variant of beta +OMIM:607300 skos:exactMatch HGNC:17340 Unspecified PRPF8 +OMIM:607300 skos:exactMatch UMLS:C1424915 Unspecified PRPF8 +OMIM:607300 skos:exactMatch HGNC_symbol:PRPF8 Unspecified PRPF8 +OMIM:609963 skos:exactMatch HGNC_symbol:CHSY3 Unspecified CHSY3 +OMIM:609963 skos:exactMatch UMLS:C1864958 Unspecified CHSY3 +OMIM:609963 skos:exactMatch HGNC:24293 Unspecified CHSY3 +OMIM:609964 skos:exactMatch HGNC_symbol:CLEC4D Unspecified CLEC4D +OMIM:609964 skos:exactMatch HGNC:14554 Unspecified CLEC4D +OMIM:609964 skos:exactMatch UMLS:C1539095 Unspecified CLEC4D +OMIM:609965 skos:exactMatch UMLS:C1864957 Unspecified deafness, autosomal dominant 53 +OMIM:609966 skos:exactMatch HGNC:18869 Unspecified GGN +OMIM:609966 skos:exactMatch HGNC_symbol:GGN Unspecified GGN +OMIM:609966 skos:exactMatch UMLS:C1425840 Unspecified GGN +OMIM:607304 skos:exactMatch UMLS:C1846520 Unspecified cataract 27 +OMIM:609960 skos:exactMatch HGNC_symbol:PUM3 Unspecified PUM3 +OMIM:609960 skos:exactMatch UMLS:C1428887 Unspecified PUM3 +OMIM:609960 skos:exactMatch HGNC:29676 Unspecified PUM3 +OMIM:607303 skos:exactMatch HGNC:16989 Unspecified MORF4L1 +OMIM:607303 skos:exactMatch UMLS:C1424676 Unspecified MORF4L1 +OMIM:607303 skos:exactMatch HGNC_symbol:MORF4L1 Unspecified MORF4L1 +OMIM:609961 skos:exactMatch HGNC:29677 Unspecified HMHB1 +OMIM:609961 skos:exactMatch HGNC_symbol:HMHB1 Unspecified HMHB1 +OMIM:609961 skos:exactMatch UMLS:C1825517 Unspecified HMHB1 +OMIM:609962 skos:exactMatch HGNC:14555 Unspecified CLEC4E +OMIM:609962 skos:exactMatch UMLS:C1539096 Unspecified CLEC4E +OMIM:609962 skos:exactMatch HGNC_symbol:CLEC4E Unspecified CLEC4E +OMIM:607301 skos:exactMatch HGNC_symbol:PRPF3 Unspecified PRPF3 +OMIM:607301 skos:exactMatch HGNC:17348 Unspecified PRPF3 +OMIM:607301 skos:exactMatch UMLS:C1424921 Unspecified PRPF3 +OMIM:164400 skos:exactMatch UMLS:C0752120 Unspecified spinocerebellar ataxia 1 +OMIM:619353 skos:exactMatch HGNC_symbol:PARD3B Unspecified PARD3B +OMIM:619353 skos:exactMatch HGNC:14446 Unspecified PARD3B +OMIM:262875 skos:exactMatch UMLS:C1849774 Unspecified platelet prostacyclin receptor defect +OMIM:619359 skos:exactMatch HGNC:13746 Unspecified BRINP2 +OMIM:619359 skos:exactMatch HGNC_symbol:BRINP2 Unspecified BRINP2 +OMIM:619357 skos:exactMatch HGNC:49151 Unspecified AK6 +OMIM:619357 skos:exactMatch HGNC_symbol:AK6 Unspecified AK6 +OMIM:619358 skos:exactMatch HGNC_symbol:MTUS2 Unspecified MTUS2 +OMIM:619358 skos:exactMatch HGNC:20595 Unspecified MTUS2 +OMIM:607373 skos:exactMatch UMLS:C1969710 Unspecified autism, susceptibility to, 8 +OMIM:607372 skos:exactMatch UMLS:C1422509 Unspecified MED15 +OMIM:607372 skos:exactMatch HGNC_symbol:MED15 Unspecified MED15 +OMIM:607372 skos:exactMatch HGNC:14248 Unspecified MED15 +OMIM:607371 skos:exactMatch UMLS:C1846331 Unspecified dystonia, juvenile-onset +OMIM:607370 skos:exactMatch UMLS:C1422671 Unspecified KCNK17 +OMIM:607370 skos:exactMatch HGNC:14465 Unspecified KCNK17 +OMIM:607370 skos:exactMatch HGNC_symbol:KCNK17 Unspecified KCNK17 +OMIM:139450 skos:exactMatch UMLS:C2697452 Unspecified hair morphology 2 +OMIM:607377 skos:exactMatch UMLS:C1422639 Unspecified LENEP +OMIM:607377 skos:exactMatch HGNC_symbol:LENEP Unspecified LENEP +OMIM:607377 skos:exactMatch HGNC:14429 Unspecified LENEP +OMIM:607376 skos:exactMatch HGNC:2712 Unspecified DCTN2 +OMIM:607376 skos:exactMatch HGNC_symbol:DCTN2 Unspecified DCTN2 +OMIM:607376 skos:exactMatch UMLS:C1413936 Unspecified DCTN2 +OMIM:607375 skos:exactMatch HGNC_symbol:DOT1L Unspecified DOT1L +OMIM:607375 skos:exactMatch HGNC:24948 Unspecified DOT1L +OMIM:607375 skos:exactMatch UMLS:C1428431 Unspecified DOT1L +OMIM:607374 skos:exactMatch UMLS:C1418933 Unspecified PRKRIR +OMIM:607374 skos:exactMatch HGNC:9440 Unspecified PRKRIR +OMIM:607374 skos:exactMatch HGNC_symbol:THAP12 Unspecified PRKRIR +OMIM:607379 skos:exactMatch HGNC:7773 Unspecified NF2 +OMIM:607379 skos:exactMatch HGNC_symbol:NF2 Unspecified NF2 +OMIM:607379 skos:exactMatch UMLS:C0085114 Unspecified NF2 +OMIM:607378 skos:exactMatch HGNC:17860 Unspecified SERBP1 +OMIM:607378 skos:exactMatch UMLS:C1822676 Unspecified SERBP1 +OMIM:607378 skos:exactMatch HGNC_symbol:SERBP1 Unspecified SERBP1 +OMIM:619341 skos:exactMatch HGNC_symbol:PJA2 Unspecified PJA2 +OMIM:619341 skos:exactMatch HGNC:17481 Unspecified PJA2 +OMIM:619344 skos:exactMatch HGNC_symbol:PCP2 Unspecified PCP2 +OMIM:619344 skos:exactMatch HGNC:30209 Unspecified PCP2 +OMIM:619342 skos:exactMatch HGNC_symbol:PGAP6 Unspecified PGAP6 +OMIM:619342 skos:exactMatch HGNC:17205 Unspecified PGAP6 +OMIM:260200 skos:exactMatch UMLS:C1850101 Unspecified pallidal degeneration, progressive, with retinitis pigmentosa +OMIM:619348 skos:exactMatch HGNC_symbol:ANKLE1 Unspecified ANKLE1 +OMIM:619348 skos:exactMatch HGNC:26812 Unspecified ANKLE1 +OMIM:619349 skos:exactMatch HGNC_symbol:COPS9 Unspecified COPS9 +OMIM:619349 skos:exactMatch HGNC:21314 Unspecified COPS9 +OMIM:152427 skos:exactMatch UMLS:C1416572 Unspecified KCNH2 +OMIM:152427 skos:exactMatch HGNC_symbol:KCNH2 Unspecified KCNH2 +OMIM:152427 skos:exactMatch HGNC:6251 Unspecified KCNH2 +OMIM:619346 skos:exactMatch HGNC:31853 Unspecified ADAL +OMIM:619346 skos:exactMatch HGNC_symbol:ADAL Unspecified ADAL +OMIM:619347 skos:exactMatch HGNC_symbol:CCDC96 Unspecified CCDC96 +OMIM:619347 skos:exactMatch HGNC:26900 Unspecified CCDC96 +OMIM:152425 skos:exactMatch HGNC:3569 Unspecified ACSL1 +OMIM:152425 skos:exactMatch UMLS:C1414518 Unspecified ACSL1 +OMIM:152425 skos:exactMatch HGNC_symbol:ACSL1 Unspecified ACSL1 +OMIM:152424 skos:exactMatch UMLS:C1835353 Unspecified None +OMIM:607362 skos:exactMatch UMLS:C1428958 Unspecified RGMA +OMIM:607362 skos:exactMatch HGNC:30308 Unspecified RGMA +OMIM:607362 skos:exactMatch HGNC_symbol:RGMA Unspecified RGMA +OMIM:607361 skos:exactMatch UMLS:C1846357 Unspecified meckel syndrome, iia 3 +OMIM:152422 skos:exactMatch UMLS:C1835355 Unspecified None +OMIM:607360 skos:exactMatch HGNC:16430 Unspecified LACRT +OMIM:607360 skos:exactMatch HGNC_symbol:LACRT Unspecified LACRT +OMIM:607360 skos:exactMatch UMLS:C1424273 Unspecified LACRT +OMIM:152420 skos:exactMatch UMLS:C1835356 Unspecified lithium transport +OMIM:607366 skos:exactMatch HGNC:6274 Unspecified KCNK12 +OMIM:607366 skos:exactMatch HGNC_symbol:KCNK12 Unspecified KCNK12 +OMIM:607366 skos:exactMatch UMLS:C1416593 Unspecified KCNK12 +OMIM:607365 skos:exactMatch HGNC:18483 Unspecified LIPH +OMIM:607365 skos:exactMatch HGNC_symbol:LIPH Unspecified LIPH +OMIM:607365 skos:exactMatch UMLS:C1425545 Unspecified LIPH +OMIM:607364 skos:exactMatch UMLS:C1846343 Unspecified bartter syndrome, iia 3 +OMIM:607364 skos:exactMatch UMLS:C1846344 Unspecified bartter syndrome, iia 3 +OMIM:607363 skos:exactMatch UMLS:C1424852 Unspecified KNTC1 +OMIM:607363 skos:exactMatch HGNC:17255 Unspecified KNTC1 +OMIM:607363 skos:exactMatch HGNC_symbol:KNTC1 Unspecified KNTC1 +OMIM:607369 skos:exactMatch HGNC:14464 Unspecified KCNK16 +OMIM:607369 skos:exactMatch HGNC_symbol:KCNK16 Unspecified KCNK16 +OMIM:607369 skos:exactMatch UMLS:C1422670 Unspecified KCNK16 +OMIM:607368 skos:exactMatch HGNC_symbol:KCNK15 Unspecified KCNK15 +OMIM:607368 skos:exactMatch HGNC:13814 Unspecified KCNK15 +OMIM:607368 skos:exactMatch UMLS:C1422209 Unspecified KCNK15 +OMIM:607367 skos:exactMatch HGNC:6275 Unspecified KCNK13 +OMIM:607367 skos:exactMatch HGNC_symbol:KCNK13 Unspecified KCNK13 +OMIM:607367 skos:exactMatch UMLS:C1416594 Unspecified KCNK13 +OMIM:607349 skos:exactMatch HGNC:15447 Unspecified TLN2 +OMIM:607349 skos:exactMatch HGNC_symbol:TLN2 Unspecified TLN2 +OMIM:607349 skos:exactMatch UMLS:C1423493 Unspecified TLN2 +OMIM:619330 skos:exactMatch HGNC_symbol:TATDN2 Unspecified TATDN2 +OMIM:619330 skos:exactMatch HGNC:28988 Unspecified TATDN2 +OMIM:610998 skos:exactMatch HGNC_symbol:METRN Unspecified METRN +OMIM:610998 skos:exactMatch UMLS:C1537685 Unspecified METRN +OMIM:610998 skos:exactMatch HGNC:14151 Unspecified METRN +OMIM:610999 skos:exactMatch HGNC:19876 Unspecified EPC1 +OMIM:610999 skos:exactMatch HGNC_symbol:EPC1 Unspecified EPC1 +OMIM:610999 skos:exactMatch UMLS:C1426501 Unspecified EPC1 +OMIM:140450 skos:exactMatch UMLS:C1841657 Unspecified heart-hand syndrome, spanish iia +OMIM:610996 skos:exactMatch HGNC:16219 Unspecified DTD1 +OMIM:610996 skos:exactMatch UMLS:C1970251 Unspecified DTD1 +OMIM:610996 skos:exactMatch HGNC_symbol:DTD1 Unspecified DTD1 +OMIM:610997 skos:exactMatch UMLS:C1970250 Unspecified prostate cancer, hereditary, 9 +OMIM:610994 skos:exactMatch HGNC_symbol:PEDS1 Unspecified TMEM189 +OMIM:610994 skos:exactMatch HGNC:16735 Unspecified TMEM189 +OMIM:610994 skos:exactMatch UMLS:C1970252 Unspecified TMEM189 +OMIM:619331 skos:exactMatch HGNC:29325 Unspecified MEAK7 +OMIM:619331 skos:exactMatch HGNC_symbol:MEAK7 Unspecified MEAK7 +OMIM:262850 skos:exactMatch UMLS:C2752081 Unspecified alpha-2-plasmin inhibitor deficiency +OMIM:619332 skos:exactMatch HGNC_symbol:TMEM251 Unspecified TMEM251 +OMIM:619332 skos:exactMatch HGNC:20218 Unspecified TMEM251 +OMIM:610995 skos:exactMatch UMLS:C1427018 Unspecified PCYOX1 +OMIM:610995 skos:exactMatch HGNC:20588 Unspecified PCYOX1 +OMIM:610995 skos:exactMatch HGNC_symbol:PCYOX1 Unspecified PCYOX1 +OMIM:610992 skos:exactMatch UMLS:C1970253 Unspecified phosphoserine aminotransferase deficiency +OMIM:610992 skos:exactMatch ORPHA:284417 Unspecified phosphoserine aminotransferase deficiency +OMIM:619337 skos:exactMatch HGNC_symbol:NMS Unspecified NMS +OMIM:619337 skos:exactMatch HGNC:32203 Unspecified NMS +OMIM:610993 skos:exactMatch HGNC:20064 Unspecified USP44 +OMIM:610993 skos:exactMatch HGNC_symbol:USP44 Unspecified USP44 +OMIM:610993 skos:exactMatch UMLS:C1426652 Unspecified USP44 +OMIM:610990 skos:exactMatch HGNC_symbol:PPP1R18 Unspecified PPP1R18 +OMIM:610990 skos:exactMatch HGNC:29413 Unspecified PPP1R18 +OMIM:610990 skos:exactMatch UMLS:C1428856 Unspecified PPP1R18 +OMIM:619335 skos:exactMatch HGNC:29016 Unspecified GARRE1 +OMIM:619335 skos:exactMatch HGNC_symbol:GARRE1 Unspecified GARRE1 +OMIM:610991 skos:exactMatch UMLS:C1826505 Unspecified OBSL1 +OMIM:610991 skos:exactMatch HGNC:29092 Unspecified OBSL1 +OMIM:610991 skos:exactMatch HGNC_symbol:OBSL1 Unspecified OBSL1 +OMIM:619336 skos:exactMatch HGNC_symbol:MTX3 Unspecified MTX3 +OMIM:619336 skos:exactMatch HGNC:24812 Unspecified MTX3 +OMIM:607351 skos:exactMatch HGNC_symbol:RHOBTB1 Unspecified RHOBTB1 +OMIM:607351 skos:exactMatch HGNC:18738 Unspecified RHOBTB1 +OMIM:607351 skos:exactMatch UMLS:C1425748 Unspecified RHOBTB1 +OMIM:607350 skos:exactMatch HGNC_symbol:KIF13B Unspecified KIF13B +OMIM:607350 skos:exactMatch UMLS:C1422625 Unspecified KIF13B +OMIM:607350 skos:exactMatch HGNC:14405 Unspecified KIF13B +OMIM:176400 skos:exactMatch UMLS:C3805879 Unspecified precocious puberty, central, 1 +OMIM:176401 skos:exactMatch UMLS:C1418993 Unspecified PSG11 +OMIM:176401 skos:exactMatch HGNC:9516 Unspecified PSG11 +OMIM:176401 skos:exactMatch HGNC_symbol:PSG11 Unspecified PSG11 +OMIM:152430 skos:exactMatch UMLS:C2750617 Unspecified longevity 1 +OMIM:607355 skos:exactMatch UMLS:C1425508 Unspecified AGO3 +OMIM:607355 skos:exactMatch HGNC_symbol:AGO3 Unspecified AGO3 +OMIM:607355 skos:exactMatch HGNC:18421 Unspecified AGO3 +OMIM:607354 skos:exactMatch UMLS:C1846366 Unspecified scoliosis, isolated, susceptibility to, 2 +OMIM:607353 skos:exactMatch UMLS:C1425763 Unspecified RHOBTB3 +OMIM:607353 skos:exactMatch HGNC_symbol:RHOBTB3 Unspecified RHOBTB3 +OMIM:607353 skos:exactMatch HGNC:18757 Unspecified RHOBTB3 +OMIM:607352 skos:exactMatch UMLS:C1425762 Unspecified RHOBTB2 +OMIM:607352 skos:exactMatch HGNC_symbol:RHOBTB2 Unspecified RHOBTB2 +OMIM:607352 skos:exactMatch UMLS:C4693899 Unspecified RHOBTB2 +OMIM:607352 skos:exactMatch HGNC:18756 Unspecified RHOBTB2 +OMIM:607359 skos:exactMatch HGNC_symbol:CCAR2 Unspecified CCAR2 +OMIM:607359 skos:exactMatch HGNC:23360 Unspecified CCAR2 +OMIM:607359 skos:exactMatch UMLS:C1537479 Unspecified CCAR2 +OMIM:607358 skos:exactMatch UMLS:C1412304 Unspecified AIRE +OMIM:607358 skos:exactMatch HGNC_symbol:AIRE Unspecified AIRE +OMIM:607358 skos:exactMatch HGNC:360 Unspecified AIRE +OMIM:607357 skos:exactMatch HGNC:6299 Unspecified KCNQ5 +OMIM:607357 skos:exactMatch UMLS:C1416617 Unspecified KCNQ5 +OMIM:607357 skos:exactMatch HGNC_symbol:KCNQ5 Unspecified KCNQ5 +OMIM:607356 skos:exactMatch UMLS:C1425509 Unspecified AGO4 +OMIM:607356 skos:exactMatch HGNC_symbol:AGO4 Unspecified AGO4 +OMIM:607356 skos:exactMatch HGNC:18424 Unspecified AGO4 +OMIM:607339 skos:exactMatch UMLS:C1846418 Unspecified coronary heart disease, susceptibility to, 1 +OMIM:607338 skos:exactMatch UMLS:C1416826 Unspecified LEPROTL1 +OMIM:607338 skos:exactMatch HGNC_symbol:LEPROTL1 Unspecified LEPROTL1 +OMIM:607338 skos:exactMatch HGNC:6555 Unspecified LEPROTL1 +OMIM:610989 skos:exactMatch HGNC:17880 Unspecified LMTK2 +OMIM:610989 skos:exactMatch UMLS:C1425151 Unspecified LMTK2 +OMIM:610989 skos:exactMatch HGNC_symbol:LMTK2 Unspecified LMTK2 +OMIM:308700 skos:exactMatch UMLS:C1563719 Unspecified hypogonadotropic hypogonadism 1 with or without anosmia +OMIM:308700 skos:exactMatch UMLS:C0162809 Unspecified hypogonadotropic hypogonadism 1 with or without anosmia +OMIM:610987 skos:exactMatch HGNC:23456 Unspecified ASAH2B +OMIM:610987 skos:exactMatch UMLS:C1540202 Unspecified ASAH2B +OMIM:610987 skos:exactMatch HGNC_symbol:ASAH2B Unspecified ASAH2B +OMIM:610988 skos:exactMatch UMLS:C2750103 Unspecified leprosy, susceptibility to, 4 +OMIM:610988 skos:exactMatch UMLS:C1970254 Unspecified leprosy, susceptibility to, 4 +OMIM:610985 skos:exactMatch HGNC:30866 Unspecified UEVLD +OMIM:610985 skos:exactMatch HGNC_symbol:UEVLD Unspecified UEVLD +OMIM:610985 skos:exactMatch UMLS:C1823589 Unspecified UEVLD +OMIM:610986 skos:exactMatch HGNC_symbol:LRRK1 Unspecified LRRK1 +OMIM:610986 skos:exactMatch HGNC:18608 Unspecified LRRK1 +OMIM:610986 skos:exactMatch UMLS:C1425644 Unspecified LRRK1 +OMIM:610983 skos:exactMatch UMLS:C1537889 Unspecified MIR376C +OMIM:610983 skos:exactMatch HGNC:31782 Unspecified MIR376C +OMIM:610983 skos:exactMatch HGNC_symbol:MIR376C Unspecified MIR376C +OMIM:610984 skos:exactMatch UMLS:C3463916 Unspecified complement factor 1 deficiency +OMIM:610981 skos:exactMatch HGNC_symbol:WBP2NL Unspecified WBP2NL +OMIM:610981 skos:exactMatch UMLS:C1823657 Unspecified WBP2NL +OMIM:610981 skos:exactMatch HGNC:28389 Unspecified WBP2NL +OMIM:610982 skos:exactMatch HGNC_symbol:INF2 Unspecified INF2 +OMIM:610982 skos:exactMatch HGNC:23791 Unspecified INF2 +OMIM:610982 skos:exactMatch UMLS:C1539048 Unspecified INF2 +OMIM:619327 skos:exactMatch HGNC:20818 Unspecified LRRC15 +OMIM:619327 skos:exactMatch HGNC_symbol:LRRC15 Unspecified LRRC15 +OMIM:610980 skos:exactMatch UMLS:C1537436 Unspecified KCNQ1DN +OMIM:610980 skos:exactMatch HGNC_symbol:KCNQ1DN Unspecified KCNQ1DN +OMIM:610980 skos:exactMatch HGNC:13335 Unspecified KCNQ1DN +OMIM:152445 skos:exactMatch UMLS:C1416897 Unspecified LOR +OMIM:152445 skos:exactMatch HGNC_symbol:LORICRIN Unspecified LOR +OMIM:152445 skos:exactMatch UMLS:C1832097 Unspecified LOR +OMIM:152445 skos:exactMatch HGNC:6663 Unspecified LOR +OMIM:607340 skos:exactMatch UMLS:C1846414 Unspecified GABBR2 +OMIM:607340 skos:exactMatch UMLS:C4016025 Unspecified GABBR2 +OMIM:607340 skos:exactMatch UMLS:C1861063 Unspecified GABBR2 +OMIM:607340 skos:exactMatch HGNC_symbol:GABBR2 Unspecified GABBR2 +OMIM:607340 skos:exactMatch UMLS:C4693550 Unspecified GABBR2 +OMIM:607340 skos:exactMatch UMLS:C4693546 Unspecified GABBR2 +OMIM:607340 skos:exactMatch HGNC:4507 Unspecified GABBR2 +OMIM:259200 skos:exactMatch UMLS:C3151572 Unspecified blount disease, adolescent +OMIM:607344 skos:exactMatch HGNC_symbol:TUBD1 Unspecified TUBD1 +OMIM:607344 skos:exactMatch UMLS:C1540130 Unspecified TUBD1 +OMIM:607344 skos:exactMatch HGNC:16811 Unspecified TUBD1 +OMIM:607343 skos:exactMatch UMLS:C1623209 Unspecified SALL4 +OMIM:607343 skos:exactMatch HGNC:15924 Unspecified SALL4 +OMIM:607343 skos:exactMatch HGNC_symbol:SALL4 Unspecified SALL4 +OMIM:607343 skos:exactMatch UMLS:C1423836 Unspecified SALL4 +OMIM:607343 skos:exactMatch UMLS:C1327918 Unspecified SALL4 +OMIM:607342 skos:exactMatch HGNC_symbol:CPEB1 Unspecified CPEB1 +OMIM:607342 skos:exactMatch HGNC:21744 Unspecified CPEB1 +OMIM:607342 skos:exactMatch UMLS:C1427734 Unspecified CPEB1 +OMIM:235255 skos:exactMatch UMLS:C1856159 Unspecified mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly +OMIM:607341 skos:exactMatch UMLS:C1846388 Unspecified focal cortical dysplasia, iia 2 +OMIM:607341 skos:exactMatch UMLS:C1846389 Unspecified focal cortical dysplasia, iia 2 +OMIM:607341 skos:exactMatch UMLS:C1846385 Unspecified focal cortical dysplasia, iia 2 +OMIM:607341 skos:exactMatch UMLS:C4479708 Unspecified focal cortical dysplasia, iia 2 +OMIM:607341 skos:exactMatch UMLS:C4479709 Unspecified focal cortical dysplasia, iia 2 +OMIM:607341 skos:exactMatch UMLS:C4478701 Unspecified focal cortical dysplasia, iia 2 +OMIM:607341 skos:exactMatch UMLS:C4478700 Unspecified focal cortical dysplasia, iia 2 +OMIM:607348 skos:exactMatch UMLS:C1426393 Unspecified HES5 +OMIM:607348 skos:exactMatch HGNC_symbol:HES5 Unspecified HES5 +OMIM:607348 skos:exactMatch HGNC:19764 Unspecified HES5 +OMIM:607347 skos:exactMatch HGNC:20917 Unspecified ALPK1 +OMIM:607347 skos:exactMatch UMLS:C1538265 Unspecified ALPK1 +OMIM:607347 skos:exactMatch UMLS:C3554278 Unspecified ALPK1 +OMIM:607347 skos:exactMatch HGNC_symbol:ALPK1 Unspecified ALPK1 +OMIM:607346 skos:exactMatch UMLS:C1846367 Unspecified spinocerebellar ataxia 19 +OMIM:607346 skos:exactMatch UMLS:C2746067 Unspecified spinocerebellar ataxia 19 +OMIM:607345 skos:exactMatch HGNC_symbol:TUBE1 Unspecified TUBE1 +OMIM:607345 skos:exactMatch UMLS:C1427122 Unspecified TUBE1 +OMIM:607345 skos:exactMatch HGNC:20775 Unspecified TUBE1 +OMIM:619391 skos:exactMatch HGNC:33854 Unspecified CCDC157 +OMIM:619391 skos:exactMatch HGNC_symbol:CCDC157 Unspecified CCDC157 +OMIM:619392 skos:exactMatch HGNC_symbol:C14orf180 Unspecified C14ORF180 +OMIM:619392 skos:exactMatch HGNC:33795 Unspecified C14ORF180 +OMIM:188411 skos:exactMatch HGNC_symbol:CD1E Unspecified CD1E +OMIM:188411 skos:exactMatch HGNC:1638 Unspecified CD1E +OMIM:188411 skos:exactMatch UMLS:C1413211 Unspecified CD1E +OMIM:619390 skos:exactMatch HGNC_symbol:COL20A1 Unspecified COL20A1 +OMIM:619390 skos:exactMatch HGNC:14670 Unspecified COL20A1 +OMIM:619395 skos:exactMatch HGNC:17940 Unspecified MYEF2 +OMIM:619395 skos:exactMatch HGNC_symbol:MYEF2 Unspecified MYEF2 +OMIM:619393 skos:exactMatch HGNC:21751 Unspecified KBTBD2 +OMIM:619393 skos:exactMatch HGNC_symbol:KBTBD2 Unspecified KBTBD2 +OMIM:619394 skos:exactMatch HGNC_symbol:CBR4 Unspecified CBR4 +OMIM:619394 skos:exactMatch HGNC:25891 Unspecified CBR4 +OMIM:619399 skos:exactMatch HGNC:20660 Unspecified TSPAN18 +OMIM:619399 skos:exactMatch HGNC_symbol:TSPAN18 Unspecified TSPAN18 +OMIM:619397 skos:exactMatch HGNC_symbol:ZFPL1 Unspecified ZFPL1 +OMIM:619397 skos:exactMatch HGNC:12868 Unspecified ZFPL1 +OMIM:188410 skos:exactMatch UMLS:C1413210 Unspecified CD1D +OMIM:188410 skos:exactMatch HGNC:1637 Unspecified CD1D +OMIM:188410 skos:exactMatch HGNC_symbol:CD1D Unspecified CD1D +OMIM:152450 skos:exactMatch UMLS:C1835321 Unspecified low density lipoprotein, variation 1n molecular weight of +OMIM:235200 skos:exactMatch UMLS:C3469186 Unspecified hemochromatosis, iia 1 +OMIM:235200 skos:exactMatch UMLS:C0392514 Unspecified hemochromatosis, iia 1 +OMIM:176420 skos:exactMatch HGNC:9750 Unspecified PZP +OMIM:176420 skos:exactMatch HGNC_symbol:PZP Unspecified PZP +OMIM:176420 skos:exactMatch UMLS:C1419180 Unspecified PZP +OMIM:619384 skos:exactMatch HGNC:29014 Unspecified ZBTB39 +OMIM:619384 skos:exactMatch HGNC_symbol:ZBTB39 Unspecified ZBTB39 +OMIM:247200 skos:exactMatch UMLS:C0265219 Unspecified miller-dieker lissencephaly syndrome +OMIM:247200 skos:exactMatch UMLS:C1855481 Unspecified miller-dieker lissencephaly syndrome +OMIM:619385 skos:exactMatch HGNC:29161 Unspecified ZNF510 +OMIM:619385 skos:exactMatch HGNC_symbol:ZNF510 Unspecified ZNF510 +OMIM:619388 skos:exactMatch HGNC_symbol:TTC17 Unspecified TTC17 +OMIM:619388 skos:exactMatch HGNC:25596 Unspecified TTC17 +OMIM:619387 skos:exactMatch HGNC_symbol:CATIP Unspecified CATIP +OMIM:619387 skos:exactMatch HGNC:25062 Unspecified CATIP +OMIM:176410 skos:exactMatch UMLS:C0342549 Unspecified precocious puberty, male-limited +OMIM:176410 skos:exactMatch UMLS:C2674612 Unspecified precocious puberty, male-limited +OMIM:250850 skos:exactMatch UMLS:C0268621 Unspecified methionine adenosyltransferase i/iii deficiency +OMIM:274800 skos:exactMatch UMLS:C0342195 Unspecified thyroid dyshormonogenesis 4 +OMIM:619370 skos:exactMatch HGNC:29145 Unspecified KHDC4 +OMIM:619370 skos:exactMatch HGNC_symbol:KHDC4 Unspecified KHDC4 +OMIM:619372 skos:exactMatch HGNC:28967 Unspecified URB2 +OMIM:619372 skos:exactMatch HGNC_symbol:URB2 Unspecified URB2 +OMIM:619378 skos:exactMatch HGNC:32621 Unspecified SNORA31 +OMIM:619378 skos:exactMatch HGNC_symbol:SNORA31 Unspecified SNORA31 +OMIM:607391 skos:exactMatch HGNC_symbol:SSBP4 Unspecified SSBP4 +OMIM:607391 skos:exactMatch HGNC:15676 Unspecified SSBP4 +OMIM:607391 skos:exactMatch UMLS:C1423649 Unspecified SSBP4 +OMIM:607390 skos:exactMatch HGNC_symbol:SSBP3 Unspecified SSBP3 +OMIM:607390 skos:exactMatch HGNC:15674 Unspecified SSBP3 +OMIM:607390 skos:exactMatch UMLS:C1423648 Unspecified SSBP3 +OMIM:607395 skos:exactMatch UMLS:C1846298 Unspecified streptococcus, group a, severity of infection by +OMIM:607394 skos:exactMatch HGNC:19864 Unspecified POU2F3 +OMIM:607394 skos:exactMatch UMLS:C1426490 Unspecified POU2F3 +OMIM:607394 skos:exactMatch HGNC_symbol:POU2F3 Unspecified POU2F3 +OMIM:607393 skos:exactMatch HGNC_symbol:CDC73 Unspecified CDC73 +OMIM:607393 skos:exactMatch HGNC:16783 Unspecified CDC73 +OMIM:607393 skos:exactMatch UMLS:C1708291 Unspecified CDC73 +OMIM:607392 skos:exactMatch HGNC_symbol:WWTR1 Unspecified WWTR1 +OMIM:607392 skos:exactMatch HGNC:24042 Unspecified WWTR1 +OMIM:607392 skos:exactMatch UMLS:C1538117 Unspecified WWTR1 +OMIM:607399 skos:exactMatch UMLS:C1421948 Unspecified MCOLN2 +OMIM:607399 skos:exactMatch HGNC_symbol:MCOLN2 Unspecified MCOLN2 +OMIM:607399 skos:exactMatch HGNC:13357 Unspecified MCOLN2 +OMIM:607398 skos:exactMatch UMLS:C4049714 Unspecified glucocorticoid deficiency 2 +OMIM:607397 skos:exactMatch HGNC_symbol:MC2R Unspecified MC2R +OMIM:607397 skos:exactMatch HGNC:6930 Unspecified MC2R +OMIM:607397 skos:exactMatch UMLS:C1417062 Unspecified MC2R +OMIM:607396 skos:exactMatch HGNC:11980 Unspecified TOB2 +OMIM:607396 skos:exactMatch UMLS:C1420852 Unspecified TOB2 +OMIM:607396 skos:exactMatch HGNC_symbol:TOB2 Unspecified TOB2 +OMIM:188400 skos:exactMatch UMLS:C1414025 Unspecified digeorge syndrome +OMIM:188400 skos:exactMatch UMLS:C0012236 Unspecified digeorge syndrome +OMIM:188400 skos:exactMatch ORPHA:567 Unspecified digeorge syndrome +OMIM:619364 skos:exactMatch HGNC_symbol:TATDN1 Unspecified TATDN1 +OMIM:619364 skos:exactMatch HGNC:24220 Unspecified TATDN1 +OMIM:619368 skos:exactMatch HGNC_symbol:LRRC14 Unspecified LRRC14 +OMIM:619368 skos:exactMatch HGNC:20419 Unspecified LRRC14 +OMIM:262800 skos:exactMatch UMLS:C1849778 Unspecified plasma clot retraction factor, deficiency of +OMIM:607380 skos:exactMatch HGNC_symbol:TRAF3IP1 Unspecified TRAF3IP1 +OMIM:607380 skos:exactMatch HGNC:17861 Unspecified TRAF3IP1 +OMIM:607380 skos:exactMatch UMLS:C1425137 Unspecified TRAF3IP1 +OMIM:607384 skos:exactMatch HGNC:11819 Unspecified TIMM9 +OMIM:607384 skos:exactMatch UMLS:C1420742 Unspecified TIMM9 +OMIM:607384 skos:exactMatch HGNC_symbol:TIMM9 Unspecified TIMM9 +OMIM:607383 skos:exactMatch HGNC:11816 Unspecified TIMM13 +OMIM:607383 skos:exactMatch HGNC_symbol:TIMM13 Unspecified TIMM13 +OMIM:607383 skos:exactMatch UMLS:C1420739 Unspecified TIMM13 +OMIM:607382 skos:exactMatch UMLS:C1824748 Unspecified CLIP3 +OMIM:607382 skos:exactMatch HGNC_symbol:CLIP3 Unspecified CLIP3 +OMIM:607382 skos:exactMatch HGNC:24314 Unspecified CLIP3 +OMIM:607381 skos:exactMatch HGNC:23656 Unspecified TIMM50 +OMIM:607381 skos:exactMatch UMLS:C1428182 Unspecified TIMM50 +OMIM:607381 skos:exactMatch HGNC_symbol:TIMM50 Unspecified TIMM50 +OMIM:607381 skos:exactMatch UMLS:C4540171 Unspecified TIMM50 +OMIM:607388 skos:exactMatch HGNC:4022 Unspecified TIMM10B +OMIM:607388 skos:exactMatch HGNC_symbol:TIMM10B Unspecified TIMM10B +OMIM:607388 skos:exactMatch UMLS:C1414871 Unspecified TIMM10B +OMIM:308750 skos:exactMatch UMLS:C1839911 Unspecified kallmann syndrome with spastic paraplegia +OMIM:607387 skos:exactMatch HGNC:2713 Unspecified DCTN3 +OMIM:607387 skos:exactMatch HGNC_symbol:DCTN3 Unspecified DCTN3 +OMIM:607387 skos:exactMatch UMLS:C1413937 Unspecified DCTN3 +OMIM:176430 skos:exactMatch UMLS:C1864389 Unspecified premature chromatid separation trait +OMIM:607386 skos:exactMatch UMLS:C1825575 Unspecified IFT172 +OMIM:607386 skos:exactMatch HGNC_symbol:IFT172 Unspecified IFT172 +OMIM:607386 skos:exactMatch HGNC:30391 Unspecified IFT172 +OMIM:607385 skos:exactMatch UMLS:C1825986 Unspecified None +OMIM:607385 skos:exactMatch HGNC_symbol:MGAT4C Unspecified None +OMIM:607385 skos:exactMatch HGNC:30871 Unspecified None +OMIM:607389 skos:exactMatch UMLS:C1423760 Unspecified SSBP2 +OMIM:607389 skos:exactMatch HGNC_symbol:SSBP2 Unspecified SSBP2 +OMIM:607389 skos:exactMatch HGNC:15831 Unspecified SSBP2 +OMIM:250800 skos:exactMatch UMLS:C0268193 Unspecified methemoglobinemia due to deficiency of methemoglobin reductase +OMIM:250800 skos:exactMatch UMLS:C2749559 Unspecified methemoglobinemia due to deficiency of methemoglobin reductase +OMIM:250800 skos:exactMatch UMLS:C2749560 Unspecified methemoglobinemia due to deficiency of methemoglobin reductase +OMIM:250800 skos:exactMatch UMLS:C2749562 Unspecified methemoglobinemia due to deficiency of methemoglobin reductase +OMIM:250800 skos:exactMatch UMLS:C2749561 Unspecified methemoglobinemia due to deficiency of methemoglobin reductase +OMIM:164360 skos:exactMatch HGNC:823 Unspecified ATP5F1A +OMIM:164360 skos:exactMatch UMLS:C3808899 Unspecified ATP5F1A +OMIM:164360 skos:exactMatch UMLS:C1412647 Unspecified ATP5F1A +OMIM:164360 skos:exactMatch HGNC_symbol:ATP5F1A Unspecified ATP5F1A +OMIM:164360 skos:exactMatch UMLS:C4015062 Unspecified ATP5F1A +OMIM:188345 skos:exactMatch HGNC:3061 Unspecified DTYMK +OMIM:188345 skos:exactMatch UMLS:C1414178 Unspecified DTYMK +OMIM:188345 skos:exactMatch HGNC_symbol:DTYMK Unspecified DTYMK +OMIM:188340 skos:exactMatch HGNC_symbol:CD1C Unspecified CD1C +OMIM:188340 skos:exactMatch HGNC:1636 Unspecified CD1C +OMIM:188340 skos:exactMatch UMLS:C1413209 Unspecified CD1C +OMIM:164350 skos:exactMatch HGNC_symbol:OAS1 Unspecified OAS1 +OMIM:164350 skos:exactMatch UMLS:C1417912 Unspecified OAS1 +OMIM:164350 skos:exactMatch HGNC:8086 Unspecified OAS1 +OMIM:178995 skos:exactMatch UMLS:C0269680 Unspecified pruritic urticarial papules and plaques of pregnancy +OMIM:178990 skos:exactMatch UMLS:C1417212 Unspecified MMP7 +OMIM:178990 skos:exactMatch HGNC_symbol:MMP7 Unspecified MMP7 +OMIM:178990 skos:exactMatch HGNC:7174 Unspecified MMP7 +OMIM:211200 skos:exactMatch UMLS:C1859404 Unspecified bowen syndrome of multiple malformations +OMIM:619292 skos:exactMatch HGNC:13526 Unspecified VPS9D1 +OMIM:619292 skos:exactMatch HGNC_symbol:VPS9D1 Unspecified VPS9D1 +OMIM:619296 skos:exactMatch HGNC_symbol:THORLNC Unspecified THORLNC +OMIM:619296 skos:exactMatch HGNC:53788 Unspecified THORLNC +OMIM:619294 skos:exactMatch HGNC_symbol:NIBAN1 Unspecified NIBAN1 +OMIM:619294 skos:exactMatch HGNC:16784 Unspecified NIBAN1 +OMIM:619295 skos:exactMatch HGNC_symbol:ZDHHC14 Unspecified ZDHHC14 +OMIM:619295 skos:exactMatch HGNC:20341 Unspecified ZDHHC14 +OMIM:619298 skos:exactMatch HGNC:22213 Unspecified ZNF777 +OMIM:619298 skos:exactMatch HGNC_symbol:ZNF777 Unspecified ZNF777 +OMIM:619299 skos:exactMatch HGNC:29004 Unspecified ZNF646 +OMIM:619299 skos:exactMatch HGNC_symbol:ZNF646 Unspecified ZNF646 +OMIM:223200 skos:exactMatch UMLS:C1857230 Unspecified disorganization, mouse, homolog of +OMIM:152391 skos:exactMatch HGNC:429 Unspecified ALOX12 +OMIM:152391 skos:exactMatch UMLS:C1412356 Unspecified ALOX12 +OMIM:152391 skos:exactMatch HGNC_symbol:ALOX12 Unspecified ALOX12 +OMIM:152392 skos:exactMatch HGNC:433 Unspecified ALOX15 +OMIM:152392 skos:exactMatch UMLS:C1332082 Unspecified ALOX15 +OMIM:152392 skos:exactMatch HGNC_symbol:ALOX15 Unspecified ALOX15 +OMIM:152392 skos:exactMatch UMLS:C5193165 Unspecified ALOX15 +OMIM:152390 skos:exactMatch HGNC_symbol:ALOX5 Unspecified ALOX5 +OMIM:152390 skos:exactMatch HGNC:435 Unspecified ALOX5 +OMIM:152390 skos:exactMatch UMLS:C1412361 Unspecified ALOX5 +OMIM:619282 skos:exactMatch HGNC_symbol:FAM131B Unspecified FAM131B +OMIM:619282 skos:exactMatch HGNC:22202 Unspecified FAM131B +OMIM:619280 skos:exactMatch HGNC_symbol:CCDC59 Unspecified CCDC59 +OMIM:619280 skos:exactMatch HGNC:25005 Unspecified CCDC59 +OMIM:619285 skos:exactMatch HGNC:27344 Unspecified TMEM218 +OMIM:619285 skos:exactMatch HGNC_symbol:TMEM218 Unspecified TMEM218 +OMIM:619283 skos:exactMatch HGNC_symbol:RNF44 Unspecified RNF44 +OMIM:619283 skos:exactMatch HGNC:19180 Unspecified RNF44 +OMIM:619284 skos:exactMatch HGNC_symbol:ZFR2 Unspecified ZFR2 +OMIM:619284 skos:exactMatch HGNC:29189 Unspecified ZFR2 +OMIM:619289 skos:exactMatch HGNC_symbol:ZFP91 Unspecified ZFP91 +OMIM:619289 skos:exactMatch HGNC:14983 Unspecified ZFP91 +OMIM:619287 skos:exactMatch HGNC_symbol:CCDC66 Unspecified CCDC66 +OMIM:619287 skos:exactMatch HGNC:27709 Unspecified CCDC66 +OMIM:619288 skos:exactMatch HGNC_symbol:CCDC69 Unspecified CCDC69 +OMIM:619288 skos:exactMatch HGNC:24487 Unspecified CCDC69 +OMIM:176390 skos:exactMatch UMLS:C1418991 Unspecified PSG1 +OMIM:176390 skos:exactMatch HGNC_symbol:PSG1 Unspecified PSG1 +OMIM:176390 skos:exactMatch HGNC:9514 Unspecified PSG1 +OMIM:188370 skos:exactMatch HGNC:1634 Unspecified CD1A +OMIM:188370 skos:exactMatch UMLS:C1413207 Unspecified CD1A +OMIM:188370 skos:exactMatch HGNC_symbol:CD1A Unspecified CD1A +OMIM:188380 skos:exactMatch HGNC_symbol:TMPO Unspecified TMPO +OMIM:188380 skos:exactMatch HGNC:11875 Unspecified TMPO +OMIM:188380 skos:exactMatch UMLS:C1420783 Unspecified TMPO +OMIM:176385 skos:exactMatch HGNC:8602 Unspecified PAPPA +OMIM:176385 skos:exactMatch UMLS:C1442932 Unspecified PAPPA +OMIM:176385 skos:exactMatch HGNC_symbol:PAPPA Unspecified PAPPA +OMIM:308800 skos:exactMatch UMLS:C3887525 Unspecified keratosis follicularis spinulosa decalvans, X-linked +OMIM:188390 skos:exactMatch UMLS:C1419080 Unspecified PTMA +OMIM:188390 skos:exactMatch HGNC_symbol:PTMA Unspecified PTMA +OMIM:188390 skos:exactMatch HGNC:9623 Unspecified PTMA +OMIM:213820 skos:exactMatch UMLS:C1859259 Unspecified cerebral malformation, seizures, hypertrichosis, and overlapping fingers +OMIM:188350 skos:exactMatch UMLS:C1366824 Unspecified TYMS +OMIM:188350 skos:exactMatch HGNC:12441 Unspecified TYMS +OMIM:188350 skos:exactMatch HGNC_symbol:TYMS Unspecified TYMS +OMIM:489500 skos:exactMatch UMLS:C1421534 Unspecified XGR +OMIM:237800 skos:exactMatch UMLS:C3550398 Unspecified hyperbilirubinemia, shunt, primary +OMIM:188360 skos:exactMatch HGNC_symbol:CD1B Unspecified CD1B +OMIM:188360 skos:exactMatch HGNC:1635 Unspecified CD1B +OMIM:188360 skos:exactMatch UMLS:C1413208 Unspecified CD1B +OMIM:176399 skos:exactMatch HGNC:9515 Unspecified PSG10P +OMIM:176399 skos:exactMatch HGNC_symbol:PSG10P Unspecified PSG10P +OMIM:176399 skos:exactMatch UMLS:C1418992 Unspecified PSG10P +OMIM:176395 skos:exactMatch HGNC:9523 Unspecified PSG6 +OMIM:176395 skos:exactMatch UMLS:C1418998 Unspecified PSG6 +OMIM:176395 skos:exactMatch HGNC_symbol:PSG6 Unspecified PSG6 +OMIM:176396 skos:exactMatch HGNC:9524 Unspecified PSG7 +OMIM:176396 skos:exactMatch UMLS:C1418999 Unspecified PSG7 +OMIM:176396 skos:exactMatch HGNC_symbol:PSG7 Unspecified PSG7 +OMIM:176397 skos:exactMatch HGNC:9525 Unspecified PSG8 +OMIM:176397 skos:exactMatch UMLS:C1419000 Unspecified PSG8 +OMIM:176397 skos:exactMatch HGNC_symbol:PSG8 Unspecified PSG8 +OMIM:176398 skos:exactMatch HGNC:9526 Unspecified PSG9 +OMIM:176398 skos:exactMatch UMLS:C1419001 Unspecified PSG9 +OMIM:176398 skos:exactMatch HGNC_symbol:PSG9 Unspecified PSG9 +OMIM:176391 skos:exactMatch UMLS:C1418994 Unspecified PSG2 +OMIM:176391 skos:exactMatch HGNC_symbol:PSG2 Unspecified PSG2 +OMIM:176391 skos:exactMatch HGNC:9519 Unspecified PSG2 +OMIM:176392 skos:exactMatch HGNC:9520 Unspecified PSG3 +OMIM:176392 skos:exactMatch UMLS:C1418995 Unspecified PSG3 +OMIM:176392 skos:exactMatch HGNC_symbol:PSG3 Unspecified PSG3 +OMIM:176393 skos:exactMatch HGNC:9521 Unspecified PSG4 +OMIM:176393 skos:exactMatch UMLS:C1418996 Unspecified PSG4 +OMIM:176393 skos:exactMatch HGNC_symbol:PSG4 Unspecified PSG4 +OMIM:176394 skos:exactMatch HGNC:9522 Unspecified PSG5 +OMIM:176394 skos:exactMatch UMLS:C1418997 Unspecified PSG5 +OMIM:176394 skos:exactMatch HGNC_symbol:PSG5 Unspecified PSG5 +OMIM:115470 skos:exactMatch UMLS:C0265493 Unspecified cat eye syndrome +OMIM:201810 skos:exactMatch UMLS:C0342471 Unspecified adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency +OMIM:188399 skos:exactMatch HGNC_symbol:TMSB10 Unspecified TMSB10 +OMIM:188399 skos:exactMatch HGNC:11879 Unspecified TMSB10 +OMIM:188399 skos:exactMatch UMLS:C1420786 Unspecified TMSB10 +OMIM:115460 skos:exactMatch HGNC_symbol:CSN2 Unspecified CSN2 +OMIM:115460 skos:exactMatch UMLS:C1384512 Unspecified CSN2 +OMIM:115460 skos:exactMatch HGNC:2447 Unspecified CSN2 +OMIM:115442 skos:exactMatch UMLS:C1413761 Unspecified CSNK2A2 +OMIM:115442 skos:exactMatch HGNC_symbol:CSNK2A2 Unspecified CSNK2A2 +OMIM:115442 skos:exactMatch HGNC:2459 Unspecified CSNK2A2 +OMIM:115441 skos:exactMatch HGNC_symbol:CSNK2B Unspecified CSNK2B +OMIM:115441 skos:exactMatch UMLS:C1413762 Unspecified CSNK2B +OMIM:115441 skos:exactMatch UMLS:C5231482 Unspecified CSNK2B +OMIM:115441 skos:exactMatch HGNC:2460 Unspecified CSNK2B +OMIM:115440 skos:exactMatch HGNC_symbol:CSNK2A1 Unspecified CSNK2A1 +OMIM:115440 skos:exactMatch UMLS:C1332796 Unspecified CSNK2A1 +OMIM:115440 skos:exactMatch HGNC:2457 Unspecified CSNK2A1 +OMIM:115450 skos:exactMatch HGNC_symbol:CSN1S1 Unspecified CSN1 +OMIM:115450 skos:exactMatch UMLS:C1384511 Unspecified CSN1 +OMIM:115450 skos:exactMatch HGNC:2445 Unspecified CSN1 +OMIM:609905 skos:exactMatch HGNC:15754 Unspecified MYL9 +OMIM:609905 skos:exactMatch HGNC_symbol:MYL9 Unspecified MYL9 +OMIM:609905 skos:exactMatch UMLS:C1423704 Unspecified MYL9 +OMIM:115435 skos:exactMatch HGNC:2380 Unspecified HAPLN1 +OMIM:115435 skos:exactMatch UMLS:C1413721 Unspecified HAPLN1 +OMIM:115435 skos:exactMatch HGNC_symbol:HAPLN1 Unspecified HAPLN1 +OMIM:609906 skos:exactMatch HGNC_symbol:EFS Unspecified EFS +OMIM:609906 skos:exactMatch HGNC:16898 Unspecified EFS +OMIM:609906 skos:exactMatch UMLS:C1424622 Unspecified EFS +OMIM:609907 skos:exactMatch UMLS:C1419945 Unspecified SEMA3D +OMIM:609907 skos:exactMatch HGNC:10726 Unspecified SEMA3D +OMIM:609907 skos:exactMatch HGNC_symbol:SEMA3D Unspecified SEMA3D +OMIM:609908 skos:exactMatch HGNC_symbol:APOBEC4 Unspecified APOBEC4 +OMIM:609908 skos:exactMatch HGNC:32152 Unspecified APOBEC4 +OMIM:609908 skos:exactMatch UMLS:C1824091 Unspecified APOBEC4 +OMIM:609901 skos:exactMatch HGNC_symbol:ANKS4B Unspecified ANKS4B +OMIM:609901 skos:exactMatch HGNC:26795 Unspecified ANKS4B +OMIM:609901 skos:exactMatch UMLS:C1823696 Unspecified ANKS4B +OMIM:115430 skos:exactMatch UMLS:C0007286 Unspecified carpal tunnel syndrome +OMIM:609903 skos:exactMatch UMLS:C1835929 Unspecified systemic lupus erythematosus, susceptibility to, 5 +OMIM:609904 skos:exactMatch UMLS:C1425744 Unspecified HIST1H2BA +OMIM:609904 skos:exactMatch HGNC_symbol:H2BC1 Unspecified HIST1H2BA +OMIM:609904 skos:exactMatch HGNC:18730 Unspecified HIST1H2BA +OMIM:609909 skos:exactMatch UMLS:C1835928 Unspecified cardiomyopathy, dilated, 1p +OMIM:115437 skos:exactMatch HGNC_symbol:MATN1 Unspecified MATN1 +OMIM:115437 skos:exactMatch HGNC:6907 Unspecified MATN1 +OMIM:115437 skos:exactMatch UMLS:C1417041 Unspecified MATN1 +OMIM:609910 skos:exactMatch HGNC:24010 Unspecified CFAP91 +OMIM:609910 skos:exactMatch UMLS:C1540226 Unspecified CFAP91 +OMIM:609910 skos:exactMatch HGNC_symbol:CFAP91 Unspecified CFAP91 +OMIM:609911 skos:exactMatch HGNC_symbol:SLC25A47 Unspecified None +OMIM:609911 skos:exactMatch HGNC:20115 Unspecified None +OMIM:609911 skos:exactMatch UMLS:C1426699 Unspecified None +OMIM:127400 skos:exactMatch UMLS:C0406775 Unspecified dyschromatosis symmetrica hereditaria +OMIM:609900 skos:exactMatch HGNC_symbol:APOBEC3D Unspecified APOBEC3D +OMIM:609900 skos:exactMatch UMLS:C1424927 Unspecified APOBEC3D +OMIM:609900 skos:exactMatch HGNC:17354 Unspecified APOBEC3D +OMIM:103420 skos:exactMatch UMLS:C4310836 Unspecified alacrima, congenital, autosomal dominant +OMIM:115400 skos:exactMatch UMLS:C1861847 Unspecified carpal displacement +OMIM:607407 skos:exactMatch HGNC:19087 Unspecified EBF3 +OMIM:607407 skos:exactMatch HGNC_symbol:EBF3 Unspecified EBF3 +OMIM:607407 skos:exactMatch UMLS:C1426003 Unspecified EBF3 +OMIM:607406 skos:exactMatch HGNC:24854 Unspecified STBD1 +OMIM:607406 skos:exactMatch HGNC_symbol:STBD1 Unspecified STBD1 +OMIM:607406 skos:exactMatch UMLS:C1846283 Unspecified STBD1 +OMIM:607405 skos:exactMatch HGNC_symbol:TAAR5 Unspecified TAAR5 +OMIM:607405 skos:exactMatch UMLS:C1539912 Unspecified TAAR5 +OMIM:607405 skos:exactMatch HGNC:30236 Unspecified TAAR5 +OMIM:607404 skos:exactMatch HGNC_symbol:IFNLR1 Unspecified IFNLR1 +OMIM:607404 skos:exactMatch HGNC:18584 Unspecified IFNLR1 +OMIM:607404 skos:exactMatch UMLS:C1425622 Unspecified IFNLR1 +OMIM:607409 skos:exactMatch HGNC:17972 Unspecified NRN1 +OMIM:607409 skos:exactMatch HGNC_symbol:NRN1 Unspecified NRN1 +OMIM:607409 skos:exactMatch UMLS:C1425210 Unspecified NRN1 +OMIM:607408 skos:exactMatch HGNC_symbol:DAOA Unspecified DAOA +OMIM:607408 skos:exactMatch HGNC:21191 Unspecified DAOA +OMIM:607408 skos:exactMatch UMLS:C1427399 Unspecified DAOA +OMIM:607410 skos:exactMatch HGNC_symbol:DMBX1 Unspecified DMBX1 +OMIM:607410 skos:exactMatch UMLS:C1425962 Unspecified DMBX1 +OMIM:607410 skos:exactMatch HGNC:19026 Unspecified DMBX1 +OMIM:607414 skos:exactMatch HGNC_symbol:FEZF2 Unspecified FEZF2 +OMIM:607414 skos:exactMatch UMLS:C1825291 Unspecified FEZF2 +OMIM:607414 skos:exactMatch HGNC:13506 Unspecified FEZF2 +OMIM:607413 skos:exactMatch UMLS:C1846282 Unspecified alzheimer disease neuronal thread protein +OMIM:607412 skos:exactMatch UMLS:C1423701 Unspecified BPIFA1 +OMIM:607412 skos:exactMatch HGNC:15749 Unspecified BPIFA1 +OMIM:607412 skos:exactMatch HGNC_symbol:BPIFA1 Unspecified BPIFA1 +OMIM:607411 skos:exactMatch UMLS:C4282128 Unspecified patent ductus arteriosus 1 +OMIM:115501 skos:exactMatch HGNC:12450 Unspecified TYRP1 +OMIM:115501 skos:exactMatch UMLS:C1336694 Unspecified TYRP1 +OMIM:115501 skos:exactMatch HGNC_symbol:TYRP1 Unspecified TYRP1 +OMIM:115500 skos:exactMatch HGNC_symbol:CAT Unspecified CAT +OMIM:115500 skos:exactMatch HGNC:1516 Unspecified CAT +OMIM:115500 skos:exactMatch UMLS:C1413138 Unspecified CAT +OMIM:607403 skos:exactMatch HGNC:18363 Unspecified IFNL1 +OMIM:607403 skos:exactMatch HGNC_symbol:IFNL1 Unspecified IFNL1 +OMIM:607403 skos:exactMatch UMLS:C1425473 Unspecified IFNL1 +OMIM:607402 skos:exactMatch HGNC:18365 Unspecified IFNL3 +OMIM:607402 skos:exactMatch HGNC_symbol:IFNL3 Unspecified IFNL3 +OMIM:607402 skos:exactMatch UMLS:C1425475 Unspecified IFNL3 +OMIM:607401 skos:exactMatch HGNC:18364 Unspecified IFNL2 +OMIM:607401 skos:exactMatch HGNC_symbol:IFNL2 Unspecified IFNL2 +OMIM:607401 skos:exactMatch UMLS:C1425474 Unspecified IFNL2 +OMIM:607400 skos:exactMatch UMLS:C1421949 Unspecified MCOLN3 +OMIM:607400 skos:exactMatch HGNC_symbol:MCOLN3 Unspecified MCOLN3 +OMIM:607400 skos:exactMatch HGNC:13358 Unspecified MCOLN3 +OMIM:139500 skos:exactMatch UMLS:C0263482 Unspecified hairy ears +OMIM:272370 skos:exactMatch UMLS:C1848953 Unspecified susceptibility to lysis by alloreactive natural killer cells +OMIM:103500 skos:exactMatch UMLS:C0391816 Unspecified tietz albinism-deafness syndrome +OMIM:103500 skos:exactMatch ORPHA:42665 Unspecified tietz albinism-deafness syndrome +OMIM:306000 skos:exactMatch ORPHA:264580 Unspecified glycogen storage disease ixa1 +OMIM:306000 skos:exactMatch UMLS:C3694531 Unspecified glycogen storage disease ixa1 +OMIM:306000 skos:exactMatch UMLS:C1844412 Unspecified glycogen storage disease ixa1 +OMIM:306000 skos:exactMatch UMLS:C2748941 Unspecified glycogen storage disease ixa1 +OMIM:140500 skos:exactMatch UMLS:C0018798 Unspecified heart, malformation of +OMIM:607449 skos:exactMatch UMLS:C1843897 Unspecified NPFFR2 +OMIM:607449 skos:exactMatch HGNC_symbol:NPFFR2 Unspecified NPFFR2 +OMIM:607449 skos:exactMatch HGNC:4525 Unspecified NPFFR2 +OMIM:607448 skos:exactMatch HGNC:17425 Unspecified NPFFR1 +OMIM:607448 skos:exactMatch HGNC_symbol:NPFFR1 Unspecified NPFFR1 +OMIM:607448 skos:exactMatch UMLS:C1826463 Unspecified NPFFR1 +OMIM:260370 skos:exactMatch UMLS:C3891828 Unspecified pancreatic agenesis 1 +OMIM:619432 skos:exactMatch HGNC:28125 Unspecified NAA11 +OMIM:619432 skos:exactMatch HGNC_symbol:NAA11 Unspecified NAA11 +OMIM:272350 skos:exactMatch UMLS:C1802405 Unspecified summitt syndrome +OMIM:619430 skos:exactMatch HGNC_symbol:SPINT4 Unspecified SPINT4 +OMIM:619430 skos:exactMatch HGNC:16130 Unspecified SPINT4 +OMIM:619434 skos:exactMatch HGNC:1240 Unspecified SUCO +OMIM:619434 skos:exactMatch HGNC_symbol:SUCO Unspecified SUCO +OMIM:619429 skos:exactMatch HGNC_symbol:TMCC2 Unspecified TMCC2 +OMIM:619429 skos:exactMatch HGNC:24239 Unspecified TMCC2 +OMIM:619427 skos:exactMatch HGNC_symbol:ZNF410 Unspecified ZNF410 +OMIM:619427 skos:exactMatch HGNC:20144 Unspecified ZNF410 +OMIM:607450 skos:exactMatch UMLS:C1843896 Unspecified arrhythmogenic right ventricular dysplasia, familial, 8 +OMIM:607454 skos:exactMatch UMLS:C1843891 Unspecified spinocerebellar ataxia 21 +OMIM:607453 skos:exactMatch UMLS:C1843895 Unspecified deafness, autosomal dominant 44 +OMIM:607452 skos:exactMatch HGNC:13291 Unspecified GABARAPL2 +OMIM:607452 skos:exactMatch HGNC_symbol:GABARAPL2 Unspecified GABARAPL2 +OMIM:607452 skos:exactMatch UMLS:C1421924 Unspecified GABARAPL2 +OMIM:607451 skos:exactMatch HGNC_symbol:GMEB2 Unspecified GMEB2 +OMIM:607451 skos:exactMatch HGNC:4371 Unspecified GMEB2 +OMIM:607451 skos:exactMatch UMLS:C1415131 Unspecified GMEB2 +OMIM:607458 skos:exactMatch UMLS:C1843884 Unspecified spinocerebellar ataxia 18 +OMIM:607457 skos:exactMatch UMLS:C1843889 Unspecified gil blood group +OMIM:607456 skos:exactMatch UMLS:C1413427 Unspecified UTP4 +OMIM:607456 skos:exactMatch HGNC:1983 Unspecified UTP4 +OMIM:607456 skos:exactMatch HGNC_symbol:UTP4 Unspecified UTP4 +OMIM:607455 skos:exactMatch UMLS:C1823943 Unspecified ZFAND3 +OMIM:607455 skos:exactMatch HGNC:18019 Unspecified ZFAND3 +OMIM:607455 skos:exactMatch HGNC_symbol:ZFAND3 Unspecified ZFAND3 +OMIM:607439 skos:exactMatch HGNC:19743 Unspecified POMT2 +OMIM:607439 skos:exactMatch UMLS:C3150411 Unspecified POMT2 +OMIM:607439 skos:exactMatch UMLS:C3150418 Unspecified POMT2 +OMIM:607439 skos:exactMatch UMLS:C3150416 Unspecified POMT2 +OMIM:607439 skos:exactMatch HGNC_symbol:POMT2 Unspecified POMT2 +OMIM:607439 skos:exactMatch UMLS:C1426379 Unspecified POMT2 +OMIM:607437 skos:exactMatch UMLS:C1421931 Unspecified GPRC5D +OMIM:607437 skos:exactMatch HGNC_symbol:GPRC5D Unspecified GPRC5D +OMIM:607437 skos:exactMatch HGNC:13310 Unspecified GPRC5D +OMIM:619421 skos:exactMatch HGNC_symbol:DYNAP Unspecified DYNAP +OMIM:619421 skos:exactMatch HGNC:26808 Unspecified DYNAP +OMIM:619419 skos:exactMatch HGNC:22196 Unspecified NACAD +OMIM:619419 skos:exactMatch HGNC_symbol:NACAD Unspecified NACAD +OMIM:619416 skos:exactMatch HGNC:21162 Unspecified TRIM60 +OMIM:619416 skos:exactMatch HGNC_symbol:TRIM60 Unspecified TRIM60 +OMIM:619417 skos:exactMatch HGNC_symbol:TRIM61 Unspecified TRIM61 +OMIM:619417 skos:exactMatch HGNC:24339 Unspecified TRIM61 +OMIM:607443 skos:exactMatch HGNC:14417 Unspecified ELSPBP1 +OMIM:607443 skos:exactMatch HGNC_symbol:ELSPBP1 Unspecified ELSPBP1 +OMIM:607443 skos:exactMatch UMLS:C1422634 Unspecified ELSPBP1 +OMIM:607442 skos:exactMatch HGNC:1316 Unspecified EML4 +OMIM:607442 skos:exactMatch HGNC_symbol:EML4 Unspecified EML4 +OMIM:607442 skos:exactMatch UMLS:C1412993 Unspecified EML4 +OMIM:607441 skos:exactMatch HGNC:16465 Unspecified EPSTI1 +OMIM:607441 skos:exactMatch UMLS:C1333351 Unspecified EPSTI1 +OMIM:607441 skos:exactMatch HGNC_symbol:EPSTI1 Unspecified EPSTI1 +OMIM:607440 skos:exactMatch UMLS:C1414558 Unspecified FKTN +OMIM:607440 skos:exactMatch UMLS:C0410174 Unspecified FKTN +OMIM:607440 skos:exactMatch UMLS:C4015968 Unspecified FKTN +OMIM:607440 skos:exactMatch UMLS:C2751052 Unspecified FKTN +OMIM:607440 skos:exactMatch UMLS:C1969040 Unspecified FKTN +OMIM:607440 skos:exactMatch UMLS:C1969024 Unspecified FKTN +OMIM:607440 skos:exactMatch HGNC:3622 Unspecified FKTN +OMIM:607440 skos:exactMatch HGNC_symbol:FKTN Unspecified FKTN +OMIM:607447 skos:exactMatch UMLS:C1843898 Unspecified body mass index quantitative trait locus 4 +OMIM:607446 skos:exactMatch UMLS:C1843899 Unspecified body mass index quantitative trait locus 3 +OMIM:607445 skos:exactMatch HGNC_symbol:EIF4ENIF1 Unspecified EIF4ENIF1 +OMIM:607445 skos:exactMatch HGNC:16687 Unspecified EIF4ENIF1 +OMIM:607445 skos:exactMatch UMLS:C1424486 Unspecified EIF4ENIF1 +OMIM:607444 skos:exactMatch HGNC_symbol:SBDS Unspecified SBDS +OMIM:607444 skos:exactMatch UMLS:C1426244 Unspecified SBDS +OMIM:607444 skos:exactMatch HGNC:19440 Unspecified SBDS +OMIM:607429 skos:exactMatch HGNC_symbol:PDSS1 Unspecified PDSS1 +OMIM:607429 skos:exactMatch UMLS:C1843919 Unspecified PDSS1 +OMIM:607429 skos:exactMatch HGNC:17759 Unspecified PDSS1 +OMIM:607428 skos:exactMatch UMLS:C1423691 Unspecified KIRREL1 +OMIM:607428 skos:exactMatch HGNC_symbol:KIRREL1 Unspecified KIRREL1 +OMIM:607428 skos:exactMatch HGNC:15734 Unspecified KIRREL1 +OMIM:607427 skos:exactMatch HGNC:30365 Unspecified ENOSF1 +OMIM:607427 skos:exactMatch UMLS:C1539358 Unspecified ENOSF1 +OMIM:607427 skos:exactMatch HGNC_symbol:ENOSF1 Unspecified ENOSF1 +OMIM:607426 skos:exactMatch UMLS:C3551954 Unspecified coenzyme Q10 deficiency, primary, 1 +OMIM:607426 skos:exactMatch ORPHA:255249 Unspecified coenzyme Q10 deficiency, primary, 1 +OMIM:164500 skos:exactMatch UMLS:C0752125 Unspecified spinocerebellar ataxia 7 +OMIM:260350 skos:exactMatch UMLS:C0235974 Unspecified pancreatic cancer +OMIM:260350 skos:exactMatch ORPHA:1333 Unspecified pancreatic cancer +OMIM:619410 skos:exactMatch HGNC:28974 Unspecified TTLL12 +OMIM:619410 skos:exactMatch HGNC_symbol:TTLL12 Unspecified TTLL12 +OMIM:619411 skos:exactMatch HGNC:28962 Unspecified SPCS2 +OMIM:619411 skos:exactMatch HGNC_symbol:SPCS2 Unspecified SPCS2 +OMIM:619414 skos:exactMatch HGNC:29510 Unspecified MTFR1 +OMIM:619414 skos:exactMatch HGNC_symbol:MTFR1 Unspecified MTFR1 +OMIM:619415 skos:exactMatch HGNC_symbol:TTBK1 Unspecified TTBK1 +OMIM:619415 skos:exactMatch HGNC:19140 Unspecified TTBK1 +OMIM:619412 skos:exactMatch HGNC:29032 Unspecified SEC14L5 +OMIM:619412 skos:exactMatch HGNC_symbol:SEC14L5 Unspecified SEC14L5 +OMIM:619413 skos:exactMatch HGNC:29072 Unspecified CCDC144A +OMIM:619413 skos:exactMatch HGNC_symbol:CCDC144A Unspecified CCDC144A +OMIM:619408 skos:exactMatch HGNC_symbol:TRIM65 Unspecified TRIM65 +OMIM:619408 skos:exactMatch HGNC:27316 Unspecified TRIM65 +OMIM:619409 skos:exactMatch HGNC:21256 Unspecified TSPO2 +OMIM:619409 skos:exactMatch HGNC_symbol:TSPO2 Unspecified TSPO2 +OMIM:607432 skos:exactMatch ORPHA:95232 Unspecified lissencephaly 1 +OMIM:607432 skos:exactMatch UMLS:C0431375 Unspecified lissencephaly 1 +OMIM:607432 skos:exactMatch UMLS:C1848201 Unspecified lissencephaly 1 +OMIM:607432 skos:exactMatch ORPHA:99796 Unspecified lissencephaly 1 +OMIM:607431 skos:exactMatch HGNC:2684 Unspecified DAZAP2 +OMIM:607431 skos:exactMatch UMLS:C1413913 Unspecified DAZAP2 +OMIM:607431 skos:exactMatch HGNC_symbol:DAZAP2 Unspecified DAZAP2 +OMIM:607430 skos:exactMatch HGNC:2683 Unspecified DAZAP1 +OMIM:607430 skos:exactMatch UMLS:C1413912 Unspecified DAZAP1 +OMIM:607430 skos:exactMatch HGNC_symbol:DAZAP1 Unspecified DAZAP1 +OMIM:607436 skos:exactMatch HGNC:15970 Unspecified PAPOLB +OMIM:607436 skos:exactMatch UMLS:C1423874 Unspecified PAPOLB +OMIM:607436 skos:exactMatch HGNC_symbol:PAPOLB Unspecified PAPOLB +OMIM:607435 skos:exactMatch HGNC:3424 Unspecified ERAL1 +OMIM:607435 skos:exactMatch UMLS:C1843914 Unspecified ERAL1 +OMIM:607435 skos:exactMatch UMLS:C1414439 Unspecified ERAL1 +OMIM:607435 skos:exactMatch HGNC_symbol:ERAL1 Unspecified ERAL1 +OMIM:607434 skos:exactMatch UMLS:C1415352 Unspecified GTPBP2 +OMIM:607434 skos:exactMatch HGNC_symbol:GTPBP2 Unspecified GTPBP2 +OMIM:607434 skos:exactMatch HGNC:4670 Unspecified GTPBP2 +OMIM:607433 skos:exactMatch UMLS:C1843915 Unspecified TWF2 +OMIM:607433 skos:exactMatch HGNC:9621 Unspecified TWF2 +OMIM:607433 skos:exactMatch HGNC_symbol:TWF2 Unspecified TWF2 +OMIM:607418 skos:exactMatch HGNC_symbol:GCC1 Unspecified GCC1 +OMIM:607418 skos:exactMatch HGNC:19095 Unspecified GCC1 +OMIM:607418 skos:exactMatch UMLS:C1426008 Unspecified GCC1 +OMIM:607417 skos:exactMatch UMLS:C1843942 Unspecified intellectual developmental disorder, autosomal recessive 2 +OMIM:607416 skos:exactMatch HGNC_symbol:CHL1 Unspecified CHL1 +OMIM:607416 skos:exactMatch HGNC:1939 Unspecified CHL1 +OMIM:607416 skos:exactMatch UMLS:C1413393 Unspecified CHL1 +OMIM:607415 skos:exactMatch HGNC_symbol:DAOA-AS1 Unspecified DAOAAS +OMIM:607415 skos:exactMatch UMLS:C1843948 Unspecified DAOAAS +OMIM:607415 skos:exactMatch HGNC:30243 Unspecified DAOAAS +OMIM:607419 skos:exactMatch HGNC_symbol:GEMIN7 Unspecified GEMIN7 +OMIM:607419 skos:exactMatch HGNC:20045 Unspecified GEMIN7 +OMIM:607419 skos:exactMatch UMLS:C1426635 Unspecified GEMIN7 +OMIM:619403 skos:exactMatch HGNC:47044 Unspecified CCAT2 +OMIM:619403 skos:exactMatch HGNC_symbol:CCAT2 Unspecified CCAT2 +OMIM:619404 skos:exactMatch HGNC_symbol:TRMT61B Unspecified TRMT61B +OMIM:619404 skos:exactMatch HGNC:26070 Unspecified TRMT61B +OMIM:607421 skos:exactMatch HGNC_symbol:NME8 Unspecified NME8 +OMIM:607421 skos:exactMatch HGNC:16473 Unspecified NME8 +OMIM:607421 skos:exactMatch UMLS:C1424308 Unspecified NME8 +OMIM:607420 skos:exactMatch UMLS:C1414902 Unspecified GABARAPL1 +OMIM:607420 skos:exactMatch HGNC_symbol:GABARAPL1 Unspecified GABARAPL1 +OMIM:607420 skos:exactMatch HGNC:4068 Unspecified GABARAPL1 +OMIM:607425 skos:exactMatch HGNC_symbol:GJD3 Unspecified GJD3 +OMIM:607425 skos:exactMatch UMLS:C1426042 Unspecified GJD3 +OMIM:607425 skos:exactMatch HGNC:19147 Unspecified GJD3 +OMIM:607424 skos:exactMatch HGNC_symbol:GLYAT Unspecified GLYAT +OMIM:607424 skos:exactMatch HGNC:13734 Unspecified GLYAT +OMIM:607424 skos:exactMatch UMLS:C1422172 Unspecified GLYAT +OMIM:607423 skos:exactMatch UMLS:C1418752 Unspecified POMT1 +OMIM:607423 skos:exactMatch UMLS:C4284790 Unspecified POMT1 +OMIM:607423 skos:exactMatch UMLS:C5436962 Unspecified POMT1 +OMIM:607423 skos:exactMatch UMLS:C1836373 Unspecified POMT1 +OMIM:607423 skos:exactMatch HGNC:9202 Unspecified POMT1 +OMIM:607423 skos:exactMatch HGNC_symbol:POMT1 Unspecified POMT1 +OMIM:607422 skos:exactMatch UMLS:C1415008 Unspecified GCAT +OMIM:607422 skos:exactMatch HGNC_symbol:GCAT Unspecified GCAT +OMIM:607422 skos:exactMatch HGNC:4188 Unspecified GCAT +OMIM:140556 skos:exactMatch HGNC:5240 Unspecified HSPA7 +OMIM:140556 skos:exactMatch UMLS:C1415763 Unspecified HSPA7 +OMIM:140556 skos:exactMatch HGNC_symbol:HSPA7 Unspecified HSPA7 +OMIM:140555 skos:exactMatch HGNC:5239 Unspecified HSPA6 +OMIM:140555 skos:exactMatch UMLS:C1415762 Unspecified HSPA6 +OMIM:140555 skos:exactMatch HGNC_symbol:HSPA6 Unspecified HSPA6 +OMIM:235370 skos:exactMatch UMLS:C1856158 Unspecified hemolytic anemia with thermal sensitivity of red cells +OMIM:140550 skos:exactMatch UMLS:C1415755 Unspecified HSPA1A +OMIM:140550 skos:exactMatch HGNC:5232 Unspecified HSPA1A +OMIM:140550 skos:exactMatch HGNC_symbol:HSPA1A Unspecified HSPA1A +OMIM:619474 skos:exactMatch HGNC_symbol:R3HDM1 Unspecified R3HDM1 +OMIM:619474 skos:exactMatch HGNC:9757 Unspecified R3HDM1 +OMIM:607490 skos:exactMatch UMLS:C5193006 Unspecified LDHD +OMIM:607490 skos:exactMatch HGNC:19708 Unspecified LDHD +OMIM:607490 skos:exactMatch HGNC_symbol:LDHD Unspecified LDHD +OMIM:607490 skos:exactMatch UMLS:C1426348 Unspecified LDHD +OMIM:607494 skos:exactMatch HGNC_symbol:INPP4B Unspecified INPP4B +OMIM:607494 skos:exactMatch UMLS:C1416443 Unspecified INPP4B +OMIM:607494 skos:exactMatch HGNC:6075 Unspecified INPP4B +OMIM:607493 skos:exactMatch HGNC_symbol:ING3 Unspecified ING3 +OMIM:607493 skos:exactMatch UMLS:C1422775 Unspecified ING3 +OMIM:607493 skos:exactMatch HGNC:14587 Unspecified ING3 +OMIM:607492 skos:exactMatch UMLS:C1538563 Unspecified PACS1 +OMIM:607492 skos:exactMatch UMLS:C3554343 Unspecified PACS1 +OMIM:607492 skos:exactMatch HGNC:30032 Unspecified PACS1 +OMIM:607492 skos:exactMatch HGNC_symbol:PACS1 Unspecified PACS1 +OMIM:176500 skos:exactMatch UMLS:C1867773 Unspecified cerebral amyloid angiopathy, itm2b-related, 1 +OMIM:607491 skos:exactMatch HGNC_symbol:POFUT1 Unspecified POFUT1 +OMIM:607491 skos:exactMatch HGNC:14988 Unspecified POFUT1 +OMIM:607491 skos:exactMatch UMLS:C1423114 Unspecified POFUT1 +OMIM:607498 skos:exactMatch UMLS:C1843782 Unspecified migraine with or without aura, susceptibility to, 3 +OMIM:607497 skos:exactMatch UMLS:C1412717 Unspecified B3GAT2 +OMIM:607497 skos:exactMatch HGNC_symbol:B3GAT2 Unspecified B3GAT2 +OMIM:607497 skos:exactMatch HGNC:922 Unspecified B3GAT2 +OMIM:607496 skos:exactMatch HGNC:20203 Unspecified NOSTRIN +OMIM:607496 skos:exactMatch HGNC_symbol:NOSTRIN Unspecified NOSTRIN +OMIM:607496 skos:exactMatch UMLS:C1426772 Unspecified NOSTRIN +OMIM:140559 skos:exactMatch HGNC:5234 Unspecified HSPA1L +OMIM:140559 skos:exactMatch HGNC_symbol:HSPA1L Unspecified HSPA1L +OMIM:140559 skos:exactMatch UMLS:C1415757 Unspecified HSPA1L +OMIM:607499 skos:exactMatch UMLS:C4551963 Unspecified bulimia nervosa, susceptibility to +OMIM:607499 skos:exactMatch UMLS:C1843776 Unspecified bulimia nervosa, susceptibility to +OMIM:272300 skos:exactMatch ORPHA:99731 Unspecified sulfite oxidase deficiency, isolated +OMIM:272300 skos:exactMatch ORPHA:833 Unspecified sulfite oxidase deficiency, isolated +OMIM:272300 skos:exactMatch UMLS:C2931746 Unspecified sulfite oxidase deficiency, isolated +OMIM:308600 skos:exactMatch UMLS:C1839927 Unspecified jaundice, familial obstructive, of infancy +OMIM:140560 skos:exactMatch UMLS:C1415758 Unspecified HSPA2 +OMIM:140560 skos:exactMatch HGNC_symbol:HSPA2 Unspecified HSPA2 +OMIM:140560 skos:exactMatch HGNC:5235 Unspecified HSPA2 +OMIM:619469 skos:exactMatch HGNC_symbol:TMEM222 Unspecified TMEM222 +OMIM:619469 skos:exactMatch HGNC:25363 Unspecified TMEM222 +OMIM:607483 skos:exactMatch UMLS:C1843807 Unspecified thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) +OMIM:223380 skos:exactMatch UMLS:C1857198 Unspecified dopamine beta-hydroxylase, plasma, thermolability of +OMIM:607482 skos:exactMatch UMLS:C1843808 Unspecified cardiomyopathy, dilated, 1m +OMIM:607481 skos:exactMatch HGNC:18871 Unspecified MMAA +OMIM:607481 skos:exactMatch HGNC_symbol:MMAA Unspecified MMAA +OMIM:607481 skos:exactMatch UMLS:C1425842 Unspecified MMAA +OMIM:607487 skos:exactMatch UMLS:C4225408 Unspecified cardiomyopathy, familial hypertrophic, 25 +OMIM:607486 skos:exactMatch UMLS:C1292327 Unspecified knops blood group system +OMIM:607485 skos:exactMatch UMLS:C0282513 Unspecified frontotemporal lobar degeneration with tdp43 inclusions, grn-related +OMIM:607485 skos:exactMatch UMLS:C1843792 Unspecified frontotemporal lobar degeneration with tdp43 inclusions, grn-related +OMIM:607484 skos:exactMatch HGNC_symbol:PARD6A Unspecified PARD6A +OMIM:607484 skos:exactMatch UMLS:C1335190 Unspecified PARD6A +OMIM:607484 skos:exactMatch HGNC:15943 Unspecified PARD6A +OMIM:607489 skos:exactMatch HGNC:15982 Unspecified CUL9 +OMIM:607489 skos:exactMatch HGNC_symbol:CUL9 Unspecified CUL9 +OMIM:607489 skos:exactMatch UMLS:C1843785 Unspecified CUL9 +OMIM:607488 skos:exactMatch UMLS:C1843786 Unspecified dystonia 15, myoclonic +OMIM:140575 skos:exactMatch UMLS:C1825535 Unspecified HSP90AA2 +OMIM:140575 skos:exactMatch HGNC_symbol:HSP90AA2P Unspecified HSP90AA2 +OMIM:140575 skos:exactMatch HGNC:5256 Unspecified HSP90AA2 +OMIM:619450 skos:exactMatch HGNC_symbol:MIR874 Unspecified MIR874 +OMIM:619450 skos:exactMatch HGNC:33643 Unspecified MIR874 +OMIM:140572 skos:exactMatch UMLS:C1825540 Unspecified HSP90AB1 +OMIM:140572 skos:exactMatch HGNC:5258 Unspecified HSP90AB1 +OMIM:140572 skos:exactMatch HGNC_symbol:HSP90AB1 Unspecified HSP90AB1 +OMIM:140571 skos:exactMatch UMLS:C1825534 Unspecified HSP90AA1 +OMIM:140571 skos:exactMatch HGNC:5253 Unspecified HSP90AA1 +OMIM:140571 skos:exactMatch HGNC_symbol:HSP90AA1 Unspecified HSP90AA1 +OMIM:619454 skos:exactMatch HGNC_symbol:RNF144A Unspecified RNF144A +OMIM:619454 skos:exactMatch HGNC:20457 Unspecified RNF144A +OMIM:619455 skos:exactMatch HGNC:23664 Unspecified SH3PXD2A +OMIM:619455 skos:exactMatch HGNC_symbol:SH3PXD2A Unspecified SH3PXD2A +OMIM:619458 skos:exactMatch HGNC:20445 Unspecified MBD6 +OMIM:619458 skos:exactMatch HGNC_symbol:MBD6 Unspecified MBD6 +OMIM:619459 skos:exactMatch HGNC_symbol:ZZEF1 Unspecified ZZEF1 +OMIM:619459 skos:exactMatch HGNC:29027 Unspecified ZZEF1 +OMIM:619456 skos:exactMatch HGNC_symbol:CDC42SE1 Unspecified CDC42SE1 +OMIM:619456 skos:exactMatch HGNC:17719 Unspecified CDC42SE1 +OMIM:619457 skos:exactMatch HGNC:18547 Unspecified CDC42SE2 +OMIM:619457 skos:exactMatch HGNC_symbol:CDC42SE2 Unspecified CDC42SE2 +OMIM:619449 skos:exactMatch HGNC_symbol:RRP7A Unspecified RRP7A +OMIM:619449 skos:exactMatch HGNC:24286 Unspecified RRP7A +OMIM:607472 skos:exactMatch UMLS:C4310628 Unspecified YME1L1 +OMIM:607472 skos:exactMatch HGNC:12843 Unspecified YME1L1 +OMIM:607472 skos:exactMatch UMLS:C1421554 Unspecified YME1L1 +OMIM:607472 skos:exactMatch HGNC_symbol:YME1L1 Unspecified YME1L1 +OMIM:607471 skos:exactMatch UMLS:C1332390 Unspecified BCAS4 +OMIM:607471 skos:exactMatch HGNC_symbol:BCAS4 Unspecified BCAS4 +OMIM:607471 skos:exactMatch HGNC:14367 Unspecified BCAS4 +OMIM:607470 skos:exactMatch UMLS:C1332389 Unspecified BCAS3 +OMIM:607470 skos:exactMatch HGNC_symbol:BCAS3 Unspecified BCAS3 +OMIM:607470 skos:exactMatch HGNC:14347 Unspecified BCAS3 +OMIM:607476 skos:exactMatch UMLS:C1843815 Unspecified newfoundland rod-cone dystrophy +OMIM:607475 skos:exactMatch ORPHA:85128 Unspecified bothnia retinal dystrophy +OMIM:607475 skos:exactMatch UMLS:C1843816 Unspecified bothnia retinal dystrophy +OMIM:152550 skos:exactMatch UMLS:C1835320 Unspecified lumbar stenosis, familial +OMIM:607474 skos:exactMatch HGNC:4892 Unspecified HGD +OMIM:607474 skos:exactMatch UMLS:C1415533 Unspecified HGD +OMIM:607474 skos:exactMatch HGNC_symbol:HGD Unspecified HGD +OMIM:607473 skos:exactMatch UMLS:C1843832 Unspecified vitamin k-dependent clotting factors, combined deficiency of, 2 +OMIM:607479 skos:exactMatch HGNC:15718 Unspecified APCDD1 +OMIM:607479 skos:exactMatch UMLS:C1423681 Unspecified APCDD1 +OMIM:607479 skos:exactMatch HGNC_symbol:APCDD1 Unspecified APCDD1 +OMIM:607478 skos:exactMatch HGNC_symbol:TPH2 Unspecified TPH2 +OMIM:607478 skos:exactMatch UMLS:C1427080 Unspecified TPH2 +OMIM:607478 skos:exactMatch HGNC:20692 Unspecified TPH2 +OMIM:607477 skos:exactMatch HGNC:13698 Unspecified GTSE1 +OMIM:607477 skos:exactMatch UMLS:C1422149 Unspecified GTSE1 +OMIM:607477 skos:exactMatch HGNC_symbol:GTSE1 Unspecified GTSE1 +OMIM:607459 skos:exactMatch UMLS:C4225440 Unspecified sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +OMIM:607459 skos:exactMatch UMLS:C4225409 Unspecified sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +OMIM:607459 skos:exactMatch UMLS:C1843851 Unspecified sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +OMIM:607459 skos:exactMatch UMLS:C1843852 Unspecified sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +OMIM:619440 skos:exactMatch HGNC:26154 Unspecified QSER1 +OMIM:619440 skos:exactMatch HGNC_symbol:QSER1 Unspecified QSER1 +OMIM:619443 skos:exactMatch HGNC_symbol:MEIS3 Unspecified MEIS3 +OMIM:619443 skos:exactMatch HGNC:29537 Unspecified MEIS3 +OMIM:140581 skos:exactMatch UMLS:C1415750 Unspecified HSF2 +OMIM:140581 skos:exactMatch HGNC:5225 Unspecified HSF2 +OMIM:140581 skos:exactMatch HGNC_symbol:HSF2 Unspecified HSF2 +OMIM:619444 skos:exactMatch HGNC_symbol:CCDC7 Unspecified CCDC7 +OMIM:619444 skos:exactMatch HGNC:26533 Unspecified CCDC7 +OMIM:140580 skos:exactMatch UMLS:C1415749 Unspecified HSF1 +OMIM:140580 skos:exactMatch HGNC:5224 Unspecified HSF1 +OMIM:140580 skos:exactMatch HGNC_symbol:HSF1 Unspecified HSF1 +OMIM:619442 skos:exactMatch HGNC:15530 Unspecified TULP4 +OMIM:619442 skos:exactMatch HGNC_symbol:TULP4 Unspecified TULP4 +OMIM:619447 skos:exactMatch HGNC:1233 Unspecified FAM189B +OMIM:619447 skos:exactMatch HGNC_symbol:FAM189B Unspecified FAM189B +OMIM:260300 skos:exactMatch UMLS:C1850100 Unspecified parkinson disease 15, autosomal recessive early-onset +OMIM:619448 skos:exactMatch HGNC:28339 Unspecified SRARP +OMIM:619448 skos:exactMatch HGNC_symbol:SRARP Unspecified SRARP +OMIM:619438 skos:exactMatch HGNC_symbol:NAA35 Unspecified NAA35 +OMIM:619438 skos:exactMatch HGNC:24340 Unspecified NAA35 +OMIM:619439 skos:exactMatch HGNC_symbol:PARP6 Unspecified PARP6 +OMIM:619439 skos:exactMatch HGNC:26921 Unspecified PARP6 +OMIM:607461 skos:exactMatch UMLS:C1539322 Unspecified DYM +OMIM:607461 skos:exactMatch HGNC:21317 Unspecified DYM +OMIM:607461 skos:exactMatch HGNC_symbol:DYM Unspecified DYM +OMIM:607460 skos:exactMatch HGNC:17661 Unspecified PLA1A +OMIM:607460 skos:exactMatch HGNC_symbol:PLA1A Unspecified PLA1A +OMIM:607460 skos:exactMatch UMLS:C1425028 Unspecified PLA1A +OMIM:607465 skos:exactMatch HGNC_symbol:CDAN1 Unspecified CDAN1 +OMIM:607465 skos:exactMatch HGNC:1713 Unspecified CDAN1 +OMIM:607465 skos:exactMatch UMLS:C1413248 Unspecified CDAN1 +OMIM:607464 skos:exactMatch UMLS:C0749424 Unspecified thyroid carcinoma, hurthle cell +OMIM:607463 skos:exactMatch UMLS:C1538712 Unspecified PPP1R13L +OMIM:607463 skos:exactMatch HGNC_symbol:PPP1R13L Unspecified PPP1R13L +OMIM:607463 skos:exactMatch HGNC:18838 Unspecified PPP1R13L +OMIM:607462 skos:exactMatch HGNC:3033 Unspecified ATN1 +OMIM:607462 skos:exactMatch HGNC_symbol:ATN1 Unspecified ATN1 +OMIM:607462 skos:exactMatch UMLS:C1540211 Unspecified ATN1 +OMIM:607469 skos:exactMatch HGNC:736 Unspecified NAAA +OMIM:607469 skos:exactMatch UMLS:C1412574 Unspecified NAAA +OMIM:607469 skos:exactMatch HGNC_symbol:NAAA Unspecified NAAA +OMIM:607468 skos:exactMatch HGNC_symbol:GPR88 Unspecified GPR88 +OMIM:607468 skos:exactMatch HGNC:4539 Unspecified GPR88 +OMIM:607468 skos:exactMatch UMLS:C1415269 Unspecified GPR88 +OMIM:607467 skos:exactMatch HGNC:24462 Unspecified CLECL1 +OMIM:607467 skos:exactMatch UMLS:C1843833 Unspecified CLECL1 +OMIM:607467 skos:exactMatch HGNC_symbol:CLECL1 Unspecified CLECL1 +OMIM:607466 skos:exactMatch UMLS:C1426805 Unspecified RAB2B +OMIM:607466 skos:exactMatch HGNC_symbol:RAB2B Unspecified RAB2B +OMIM:607466 skos:exactMatch HGNC:20246 Unspecified RAB2B +OMIM:223340 skos:exactMatch UMLS:C1857226 Unspecified dk phocomelia syndrome +OMIM:211350 skos:exactMatch UMLS:C0432239 Unspecified kyphomelic dysplasia +OMIM:211355 skos:exactMatch UMLS:C1859394 Unspecified bowing of long bones, asymmetric and symmetric +OMIM:188545 skos:exactMatch UMLS:C1442761 Unspecified TRHR +OMIM:188545 skos:exactMatch UMLS:C1861106 Unspecified TRHR +OMIM:188545 skos:exactMatch HGNC_symbol:TRHR Unspecified TRHR +OMIM:188545 skos:exactMatch HGNC:12299 Unspecified TRHR +OMIM:211370 skos:exactMatch UMLS:C1859385 Unspecified brachymetapody-anodontia-hypotrichosis-albinoidism +OMIM:223330 skos:exactMatch UMLS:C1857227 Unspecified diverticulosis of bowel, hernia, and retinal detachment +OMIM:188540 skos:exactMatch HGNC_symbol:TSHB Unspecified TSHB +OMIM:188540 skos:exactMatch HGNC:12372 Unspecified TSHB +OMIM:188540 skos:exactMatch UMLS:C1421200 Unspecified TSHB +OMIM:211369 skos:exactMatch UMLS:C1859393 Unspecified brachydactyly, iia a2, with microcephaly +OMIM:619490 skos:exactMatch HGNC:25287 Unspecified LMBRD2 +OMIM:619490 skos:exactMatch HGNC_symbol:LMBRD2 Unspecified LMBRD2 +OMIM:619494 skos:exactMatch HGNC:25046 Unspecified SNHG11 +OMIM:619494 skos:exactMatch HGNC_symbol:SNHG11 Unspecified SNHG11 +OMIM:211380 skos:exactMatch UMLS:C0809936 Unspecified elsahy-waters syndrome +OMIM:619495 skos:exactMatch HGNC:196 Unspecified ADAM18 +OMIM:619495 skos:exactMatch HGNC_symbol:ADAM18 Unspecified ADAM18 +OMIM:619498 skos:exactMatch HGNC_symbol:ZC3H4 Unspecified ZC3H4 +OMIM:619498 skos:exactMatch HGNC:17808 Unspecified ZC3H4 +OMIM:619499 skos:exactMatch HGNC:18609 Unspecified ZNF383 +OMIM:619499 skos:exactMatch HGNC_symbol:ZNF383 Unspecified ZNF383 +OMIM:619496 skos:exactMatch HGNC_symbol:ZNF358 Unspecified ZNF358 +OMIM:619496 skos:exactMatch HGNC:16838 Unspecified ZNF358 +OMIM:619497 skos:exactMatch HGNC_symbol:NAA16 Unspecified NAA16 +OMIM:619497 skos:exactMatch HGNC:26164 Unspecified NAA16 +OMIM:223370 skos:exactMatch UMLS:C0175691 Unspecified dubowitz syndrome +OMIM:250940 skos:exactMatch UMLS:C1855128 Unspecified homocystinuria-megaloblastic anemia, cblg complementation iia +OMIM:211390 skos:exactMatch UMLS:C0796271 Unspecified sabinas brittle hair syndrome +OMIM:223350 skos:exactMatch UMLS:C1857225 Unspecified dohle bodies and leukemia +OMIM:619485 skos:exactMatch HGNC_symbol:PAPPA2 Unspecified PAPPA2 +OMIM:619485 skos:exactMatch HGNC:14615 Unspecified PAPPA2 +OMIM:223360 skos:exactMatch UMLS:C4746777 Unspecified orthostatic hypotension 1 +OMIM:223360 skos:exactMatch ORPHA:230 Unspecified orthostatic hypotension 1 +OMIM:223360 skos:exactMatch UMLS:C0342687 Unspecified orthostatic hypotension 1 +OMIM:250950 skos:exactMatch ORPHA:67046 Unspecified 3-methylglutaconic aciduria, iia 1 +OMIM:250950 skos:exactMatch UMLS:C0342727 Unspecified 3-methylglutaconic aciduria, iia 1 +OMIM:274900 skos:exactMatch UMLS:C0342196 Unspecified thyroid dyshormonogenesis 5 +OMIM:250951 skos:exactMatch UMLS:C1855126 Unspecified 3-methylglutaconic aciduria, iia 4 +OMIM:188455 skos:exactMatch UMLS:C3495590 Unspecified thyroglossal duct cyst, familial +OMIM:188450 skos:exactMatch UMLS:C0342194 Unspecified TG +OMIM:188450 skos:exactMatch HGNC:11764 Unspecified TG +OMIM:188450 skos:exactMatch UMLS:C4015968 Unspecified TG +OMIM:188450 skos:exactMatch UMLS:C1842444 Unspecified TG +OMIM:188450 skos:exactMatch UMLS:C1420709 Unspecified TG +OMIM:188450 skos:exactMatch HGNC_symbol:TG Unspecified TG +OMIM:223300 skos:exactMatch UMLS:C1857229 Unspecified disseminated sclerosis with narcolepsy +OMIM:262900 skos:exactMatch UMLS:C1849773 Unspecified pleoconial myopathy with salt craving +OMIM:176450 skos:exactMatch UMLS:C1531773 Unspecified currarino syndrome +OMIM:176450 skos:exactMatch UMLS:C1867775 Unspecified currarino syndrome +OMIM:176450 skos:exactMatch UMLS:C1867774 Unspecified currarino syndrome +OMIM:213980 skos:exactMatch ORPHA:1394 Unspecified craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +OMIM:213980 skos:exactMatch UMLS:C1859252 Unspecified craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +OMIM:250900 skos:exactMatch UMLS:C0268622 Unspecified methionine malabsorption syndrome +OMIM:223320 skos:exactMatch UMLS:C1857228 Unspecified diverticulosis, small-intestinal +OMIM:237900 skos:exactMatch UMLS:C0270210 Unspecified hyperbilirubinemia, transient familial neonatal +OMIM:237900 skos:exactMatch UMLS:C0270215 Unspecified hyperbilirubinemia, transient familial neonatal +OMIM:249900 skos:exactMatch UMLS:C0268262 Unspecified metachromatic leukodystrophy due to saposin B deficiency +OMIM:249900 skos:exactMatch ORPHA:512 Unspecified metachromatic leukodystrophy due to saposin B deficiency +OMIM:188470 skos:exactMatch UMLS:C4225426 Unspecified thyroid cancer, nonmedullary, 2 +OMIM:213950 skos:exactMatch UMLS:C1859257 Unspecified cerebrocortical degeneration of infancy +OMIM:201910 skos:exactMatch UMLS:C2936858 Unspecified adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency +OMIM:201910 skos:exactMatch ORPHA:90794 Unspecified adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency +OMIM:201910 skos:exactMatch ORPHA:418 Unspecified adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency +OMIM:213900 skos:exactMatch UMLS:C1859258 Unspecified cerebral sclerosis similar to pelizaeus-merzbacher disease +OMIM:127550 skos:exactMatch UMLS:C4551974 Unspecified dyskeratosis congenita, autosomal dominant 1 +OMIM:103580 skos:exactMatch UMLS:C3494506 Unspecified pseudohypoparathyroidism, iia 1a +OMIM:127500 skos:exactMatch UMLS:C2675711 Unspecified dyschromatosis universalis hereditaria 1 +OMIM:607528 skos:exactMatch UMLS:C1425218 Unspecified ROBO4 +OMIM:607528 skos:exactMatch HGNC_symbol:ROBO4 Unspecified ROBO4 +OMIM:607528 skos:exactMatch HGNC:17985 Unspecified ROBO4 +OMIM:607527 skos:exactMatch UMLS:C1419599 Unspecified PTBP3 +OMIM:607527 skos:exactMatch HGNC:10253 Unspecified PTBP3 +OMIM:607527 skos:exactMatch HGNC_symbol:PTBP3 Unspecified PTBP3 +OMIM:607526 skos:exactMatch HGNC_symbol:RPL27 Unspecified RPL27 +OMIM:607526 skos:exactMatch UMLS:C1419652 Unspecified RPL27 +OMIM:607526 skos:exactMatch HGNC:10328 Unspecified RPL27 +OMIM:607525 skos:exactMatch HGNC:13182 Unspecified ZNRD1 +OMIM:607525 skos:exactMatch HGNC_symbol:POLR1H Unspecified ZNRD1 +OMIM:607525 skos:exactMatch UMLS:C1421863 Unspecified ZNRD1 +OMIM:607529 skos:exactMatch UMLS:C1419818 Unspecified SARS1 +OMIM:607529 skos:exactMatch HGNC:10537 Unspecified SARS1 +OMIM:607529 skos:exactMatch HGNC_symbol:SARS1 Unspecified SARS1 +OMIM:619513 skos:exactMatch HGNC_symbol:SWT1 Unspecified SWT1 +OMIM:619513 skos:exactMatch HGNC:16785 Unspecified SWT1 +OMIM:619514 skos:exactMatch HGNC_symbol:SHCBP1L Unspecified SHCBP1L +OMIM:619514 skos:exactMatch HGNC:16788 Unspecified SHCBP1L +OMIM:619511 skos:exactMatch HGNC_symbol:ZNF354C Unspecified ZNF354C +OMIM:619511 skos:exactMatch HGNC:16736 Unspecified ZNF354C +OMIM:619506 skos:exactMatch HGNC_symbol:ZNF415 Unspecified ZNF415 +OMIM:619506 skos:exactMatch HGNC:20636 Unspecified ZNF415 +OMIM:619507 skos:exactMatch HGNC_symbol:ZNF425 Unspecified ZNF425 +OMIM:619507 skos:exactMatch HGNC:20690 Unspecified ZNF425 +OMIM:619505 skos:exactMatch HGNC_symbol:ZNF431 Unspecified ZNF431 +OMIM:619505 skos:exactMatch HGNC:20809 Unspecified ZNF431 +OMIM:619508 skos:exactMatch HGNC_symbol:ZNF445 Unspecified ZNF445 +OMIM:619508 skos:exactMatch HGNC:21018 Unspecified ZNF445 +OMIM:619509 skos:exactMatch HGNC:20647 Unspecified ZNF418 +OMIM:619509 skos:exactMatch HGNC_symbol:ZNF418 Unspecified ZNF418 +OMIM:607531 skos:exactMatch HGNC_symbol:KLF12 Unspecified KLF12 +OMIM:607531 skos:exactMatch UMLS:C1416658 Unspecified KLF12 +OMIM:607531 skos:exactMatch HGNC:6346 Unspecified KLF12 +OMIM:607530 skos:exactMatch HGNC:24957 Unspecified HOXA11AS +OMIM:607530 skos:exactMatch UMLS:C1843760 Unspecified HOXA11AS +OMIM:607530 skos:exactMatch HGNC_symbol:HOXA11-AS Unspecified HOXA11AS +OMIM:607535 skos:exactMatch UMLS:C1419776 Unspecified RYBP +OMIM:607535 skos:exactMatch HGNC:10480 Unspecified RYBP +OMIM:607535 skos:exactMatch HGNC_symbol:RYBP Unspecified RYBP +OMIM:607534 skos:exactMatch UMLS:C1424936 Unspecified YAF2 +OMIM:607534 skos:exactMatch HGNC:17363 Unspecified YAF2 +OMIM:607534 skos:exactMatch HGNC_symbol:YAF2 Unspecified YAF2 +OMIM:607533 skos:exactMatch HGNC_symbol:DIS3 Unspecified DIS3 +OMIM:607533 skos:exactMatch UMLS:C1824940 Unspecified DIS3 +OMIM:607533 skos:exactMatch HGNC:20604 Unspecified DIS3 +OMIM:607532 skos:exactMatch HGNC:23352 Unspecified PIBF1 +OMIM:607532 skos:exactMatch UMLS:C4540389 Unspecified PIBF1 +OMIM:607532 skos:exactMatch UMLS:C1539032 Unspecified PIBF1 +OMIM:607532 skos:exactMatch HGNC_symbol:PIBF1 Unspecified PIBF1 +OMIM:607517 skos:exactMatch HGNC:15503 Unspecified LILRA4 +OMIM:607517 skos:exactMatch UMLS:C1843764 Unspecified LILRA4 +OMIM:607517 skos:exactMatch HGNC_symbol:LILRA4 Unspecified LILRA4 +OMIM:607516 skos:exactMatch ORPHA:569 Unspecified migraine with or without aura, susceptibility to, 6 +OMIM:607516 skos:exactMatch UMLS:C1843766 Unspecified migraine with or without aura, susceptibility to, 6 +OMIM:607516 skos:exactMatch UMLS:C1843765 Unspecified migraine with or without aura, susceptibility to, 6 +OMIM:607515 skos:exactMatch HGNC:19254 Unspecified PLAC8 +OMIM:607515 skos:exactMatch UMLS:C1426119 Unspecified PLAC8 +OMIM:607515 skos:exactMatch HGNC_symbol:PLAC8 Unspecified PLAC8 +OMIM:607514 skos:exactMatch UMLS:C2675659 Unspecified body mass index quantitative trait locus 10 +OMIM:607519 skos:exactMatch UMLS:C1538582 Unspecified PARP4 +OMIM:607519 skos:exactMatch HGNC:271 Unspecified PARP4 +OMIM:607519 skos:exactMatch HGNC_symbol:PARP4 Unspecified PARP4 +OMIM:607518 skos:exactMatch HGNC_symbol:LRRC25 Unspecified None +OMIM:607518 skos:exactMatch HGNC:29806 Unspecified None +OMIM:607518 skos:exactMatch UMLS:C1428894 Unspecified None +OMIM:619502 skos:exactMatch HGNC:19919 Unspecified C9ORF24 +OMIM:619502 skos:exactMatch HGNC_symbol:C9orf24 Unspecified C9ORF24 +OMIM:117800 skos:exactMatch UMLS:C1861696 Unspecified apocrine gland secretion, variation 1n +OMIM:105835 skos:exactMatch UMLS:C1739384 Unspecified angel-shaped phalangoepiphyseal dysplasia +OMIM:607520 skos:exactMatch HGNC:20436 Unspecified ZAR1 +OMIM:607520 skos:exactMatch HGNC_symbol:ZAR1 Unspecified ZAR1 +OMIM:607520 skos:exactMatch UMLS:C1426934 Unspecified ZAR1 +OMIM:607524 skos:exactMatch HGNC_symbol:RNF39 Unspecified RNF39 +OMIM:607524 skos:exactMatch HGNC:18064 Unspecified RNF39 +OMIM:607524 skos:exactMatch UMLS:C1425275 Unspecified RNF39 +OMIM:105830 skos:exactMatch UMLS:C1412397 Unspecified angelman syndrome +OMIM:105830 skos:exactMatch UMLS:C0162635 Unspecified angelman syndrome +OMIM:607523 skos:exactMatch UMLS:C1843761 Unspecified nail disorder, nonsyndromic congenital, 8 +OMIM:607522 skos:exactMatch HGNC_symbol:HPS6 Unspecified HPS6 +OMIM:607522 skos:exactMatch HGNC:18817 Unspecified HPS6 +OMIM:607522 skos:exactMatch UMLS:C3888007 Unspecified HPS6 +OMIM:607522 skos:exactMatch UMLS:C1425796 Unspecified HPS6 +OMIM:607521 skos:exactMatch UMLS:C1424692 Unspecified HPS5 +OMIM:607521 skos:exactMatch HGNC_symbol:HPS5 Unspecified HPS5 +OMIM:607521 skos:exactMatch HGNC:17022 Unspecified HPS5 +OMIM:607521 skos:exactMatch UMLS:C3888004 Unspecified HPS5 +OMIM:607506 skos:exactMatch HGNC_symbol:ADAMTS14 Unspecified ADAMTS14 +OMIM:607506 skos:exactMatch HGNC:14899 Unspecified ADAMTS14 +OMIM:607506 skos:exactMatch UMLS:C1423037 Unspecified ADAMTS14 +OMIM:607505 skos:exactMatch HGNC_symbol:PASK Unspecified PASK +OMIM:607505 skos:exactMatch UMLS:C1424862 Unspecified PASK +OMIM:607505 skos:exactMatch HGNC:17270 Unspecified PASK +OMIM:607504 skos:exactMatch UMLS:C0393754 Unspecified headache associated with sexual activity +OMIM:607503 skos:exactMatch UMLS:C1426352 Unspecified DISP2 +OMIM:607503 skos:exactMatch HGNC_symbol:DISP2 Unspecified DISP2 +OMIM:607503 skos:exactMatch HGNC:19712 Unspecified DISP2 +OMIM:607509 skos:exactMatch HGNC:16305 Unspecified ADAMTS15 +OMIM:607509 skos:exactMatch HGNC_symbol:ADAMTS15 Unspecified ADAMTS15 +OMIM:607509 skos:exactMatch UMLS:C1424173 Unspecified ADAMTS15 +OMIM:607508 skos:exactMatch UMLS:C1843771 Unspecified migraine with or without aura, susceptibility to, 5 +OMIM:607507 skos:exactMatch UMLS:C1835223 Unspecified psoriatic arthritis, susceptibility to +OMIM:607507 skos:exactMatch UMLS:C1843772 Unspecified psoriatic arthritis, susceptibility to +OMIM:105805 skos:exactMatch UMLS:C1387721 Unspecified aneurysm of interventricular septum +OMIM:607513 skos:exactMatch UMLS:C1424750 Unspecified ADAMTS19 +OMIM:607513 skos:exactMatch HGNC:17111 Unspecified ADAMTS19 +OMIM:607513 skos:exactMatch HGNC_symbol:ADAMTS19 Unspecified ADAMTS19 +OMIM:607512 skos:exactMatch UMLS:C1424749 Unspecified ADAMTS18 +OMIM:607512 skos:exactMatch HGNC:17110 Unspecified ADAMTS18 +OMIM:607512 skos:exactMatch HGNC_symbol:ADAMTS18 Unspecified ADAMTS18 +OMIM:105800 skos:exactMatch UMLS:C1862932 Unspecified aneurysm, intracranial berry, 1 +OMIM:105800 skos:exactMatch ORPHA:231160 Unspecified aneurysm, intracranial berry, 1 +OMIM:607511 skos:exactMatch UMLS:C1424748 Unspecified ADAMTS17 +OMIM:607511 skos:exactMatch HGNC:17109 Unspecified ADAMTS17 +OMIM:607511 skos:exactMatch HGNC_symbol:ADAMTS17 Unspecified ADAMTS17 +OMIM:607510 skos:exactMatch UMLS:C1424747 Unspecified ADAMTS16 +OMIM:607510 skos:exactMatch HGNC:17108 Unspecified ADAMTS16 +OMIM:607510 skos:exactMatch HGNC_symbol:ADAMTS16 Unspecified ADAMTS16 +OMIM:272000 skos:exactMatch UMLS:C1848963 Unspecified sucrosuria, hiatus hernia and mental retardation +OMIM:259050 skos:exactMatch UMLS:C0796121 Unspecified primrose syndrome +OMIM:607502 skos:exactMatch HGNC_symbol:DISP1 Unspecified DISP1 +OMIM:607502 skos:exactMatch HGNC:19711 Unspecified DISP1 +OMIM:607502 skos:exactMatch UMLS:C1426351 Unspecified DISP1 +OMIM:607501 skos:exactMatch UMLS:C1843773 Unspecified migraine without aura, susceptibility to, 4 +OMIM:142800 skos:exactMatch UMLS:C1333899 Unspecified HLA-A +OMIM:142800 skos:exactMatch HGNC_symbol:HLA-A Unspecified HLA-A +OMIM:142800 skos:exactMatch HGNC:4931 Unspecified HLA-A +OMIM:142800 skos:exactMatch UMLS:C1415589 Unspecified HLA-A +OMIM:142800 skos:exactMatch UMLS:C1415588 Unspecified HLA-A +OMIM:619550 skos:exactMatch HGNC_symbol:RAB40B Unspecified RAB40B +OMIM:619550 skos:exactMatch HGNC:18284 Unspecified RAB40B +OMIM:619554 skos:exactMatch HGNC:29788 Unspecified MTIF3 +OMIM:619554 skos:exactMatch HGNC_symbol:MTIF3 Unspecified MTIF3 +OMIM:619551 skos:exactMatch HGNC_symbol:RAB40C Unspecified RAB40C +OMIM:619551 skos:exactMatch HGNC:18285 Unspecified RAB40C +OMIM:619552 skos:exactMatch HGNC:25504 Unspecified MAGOHB +OMIM:619552 skos:exactMatch HGNC_symbol:MAGOHB Unspecified MAGOHB +OMIM:619558 skos:exactMatch HGNC:16521 Unspecified RAB39A +OMIM:619558 skos:exactMatch HGNC_symbol:RAB39A Unspecified RAB39A +OMIM:607571 skos:exactMatch HGNC:14411 Unspecified SLC25A21 +OMIM:607571 skos:exactMatch UMLS:C5394140 Unspecified SLC25A21 +OMIM:607571 skos:exactMatch HGNC_symbol:SLC25A21 Unspecified SLC25A21 +OMIM:607571 skos:exactMatch UMLS:C1422630 Unspecified SLC25A21 +OMIM:607570 skos:exactMatch UMLS:C1425244 Unspecified DHX40 +OMIM:607570 skos:exactMatch HGNC_symbol:DHX40 Unspecified DHX40 +OMIM:607570 skos:exactMatch HGNC:18018 Unspecified DHX40 +OMIM:607575 skos:exactMatch HGNC:1839 Unspecified ADA2 +OMIM:607575 skos:exactMatch UMLS:C1413327 Unspecified ADA2 +OMIM:607575 skos:exactMatch HGNC_symbol:ADA2 Unspecified ADA2 +OMIM:607574 skos:exactMatch HGNC:713 Unspecified ARSA +OMIM:607574 skos:exactMatch UMLS:C1412553 Unspecified ARSA +OMIM:607574 skos:exactMatch HGNC_symbol:ARSA Unspecified ARSA +OMIM:607573 skos:exactMatch UMLS:C1825943 Unspecified MAP1S +OMIM:607573 skos:exactMatch HGNC:15715 Unspecified MAP1S +OMIM:607573 skos:exactMatch HGNC_symbol:MAP1S Unspecified MAP1S +OMIM:607572 skos:exactMatch UMLS:C1843632 Unspecified leprosy, susceptibility to, 2 +OMIM:607579 skos:exactMatch HGNC:16261 Unspecified SLC22A9 +OMIM:607579 skos:exactMatch UMLS:C1424134 Unspecified SLC22A9 +OMIM:607579 skos:exactMatch HGNC_symbol:SLC22A9 Unspecified SLC22A9 +OMIM:142810 skos:exactMatch HGNC_symbol:HARS1 Unspecified HARS1 +OMIM:142810 skos:exactMatch HGNC:4816 Unspecified HARS1 +OMIM:142810 skos:exactMatch UMLS:C1415473 Unspecified HARS1 +OMIM:607578 skos:exactMatch UMLS:C0476287 Unspecified breath-holding spells +OMIM:607577 skos:exactMatch UMLS:C1414415 Unspecified ENTPD4 +OMIM:607577 skos:exactMatch HGNC:14573 Unspecified ENTPD4 +OMIM:607577 skos:exactMatch HGNC_symbol:ENTPD4 Unspecified ENTPD4 +OMIM:607576 skos:exactMatch HGNC_symbol:CECR2 Unspecified CECR2 +OMIM:607576 skos:exactMatch HGNC:1840 Unspecified CECR2 +OMIM:607576 skos:exactMatch UMLS:C1413328 Unspecified CECR2 +OMIM:607559 skos:exactMatch HGNC:20254 Unspecified MGRN1 +OMIM:607559 skos:exactMatch HGNC_symbol:MGRN1 Unspecified MGRN1 +OMIM:607559 skos:exactMatch UMLS:C1426811 Unspecified MGRN1 +OMIM:607558 skos:exactMatch UMLS:C1419923 Unspecified SEC14L2 +OMIM:607558 skos:exactMatch HGNC:10699 Unspecified SEC14L2 +OMIM:607558 skos:exactMatch HGNC_symbol:SEC14L2 Unspecified SEC14L2 +OMIM:260000 skos:exactMatch UMLS:C0268165 Unspecified hyperoxaluria, primary, iia 2 +OMIM:619540 skos:exactMatch HGNC:14943 Unspecified PPP1R3E +OMIM:619540 skos:exactMatch HGNC_symbol:PPP1R3E Unspecified PPP1R3E +OMIM:619541 skos:exactMatch HGNC_symbol:PPP1R3G Unspecified PPP1R3G +OMIM:619541 skos:exactMatch HGNC:14945 Unspecified PPP1R3G +OMIM:619546 skos:exactMatch HGNC_symbol:OR10J5 Unspecified OR10J5 +OMIM:619546 skos:exactMatch HGNC:14993 Unspecified OR10J5 +OMIM:619547 skos:exactMatch HGNC:20150 Unspecified RAB15 +OMIM:619547 skos:exactMatch HGNC_symbol:RAB15 Unspecified RAB15 +OMIM:260005 skos:exactMatch UMLS:C0268525 Unspecified 5-oxoprolinase deficiency +OMIM:619544 skos:exactMatch HGNC:28121 Unspecified PRRC2B +OMIM:619544 skos:exactMatch HGNC_symbol:PRRC2B Unspecified PRRC2B +OMIM:619537 skos:exactMatch HGNC_symbol:ANGEL1 Unspecified ANGEL1 +OMIM:619537 skos:exactMatch HGNC:19961 Unspecified ANGEL1 +OMIM:154800 skos:exactMatch UMLS:C4749143 Unspecified mastocytosis, cutaneous +OMIM:154800 skos:exactMatch UMLS:C4749142 Unspecified mastocytosis, cutaneous +OMIM:154800 skos:exactMatch UMLS:C0221013 Unspecified mastocytosis, cutaneous +OMIM:154800 skos:exactMatch UMLS:C0023461 Unspecified mastocytosis, cutaneous +OMIM:154800 skos:exactMatch UMLS:C1136033 Unspecified mastocytosis, cutaneous +OMIM:607560 skos:exactMatch HGNC:682 Unspecified ARHGEF2 +OMIM:607560 skos:exactMatch HGNC_symbol:ARHGEF2 Unspecified ARHGEF2 +OMIM:607560 skos:exactMatch UMLS:C1412528 Unspecified ARHGEF2 +OMIM:607564 skos:exactMatch HGNC_symbol:TRIM6 Unspecified TRIM6 +OMIM:607564 skos:exactMatch HGNC:16277 Unspecified TRIM6 +OMIM:607564 skos:exactMatch UMLS:C1424147 Unspecified TRIM6 +OMIM:607563 skos:exactMatch HGNC:16703 Unspecified SLC17A6 +OMIM:607563 skos:exactMatch UMLS:C1424492 Unspecified SLC17A6 +OMIM:607563 skos:exactMatch HGNC_symbol:SLC17A6 Unspecified SLC17A6 +OMIM:607562 skos:exactMatch HGNC_symbol:IL23R Unspecified IL23R +OMIM:607562 skos:exactMatch HGNC:19100 Unspecified IL23R +OMIM:607562 skos:exactMatch UMLS:C1537403 Unspecified IL23R +OMIM:607568 skos:exactMatch HGNC_symbol:MMAB Unspecified MMAB +OMIM:607568 skos:exactMatch UMLS:C1426171 Unspecified MMAB +OMIM:607568 skos:exactMatch HGNC:19331 Unspecified MMAB +OMIM:607567 skos:exactMatch HGNC_symbol:OLFM3 Unspecified OLFM3 +OMIM:607567 skos:exactMatch HGNC:17990 Unspecified OLFM3 +OMIM:607567 skos:exactMatch UMLS:C1425220 Unspecified OLFM3 +OMIM:607566 skos:exactMatch HGNC:3413 Unspecified EPM2A +OMIM:607566 skos:exactMatch UMLS:C1414435 Unspecified EPM2A +OMIM:607566 skos:exactMatch HGNC_symbol:EPM2A Unspecified EPM2A +OMIM:607565 skos:exactMatch UMLS:C1843661 Unspecified spastic paraplegia, ataxia, and mental retardation +OMIM:607549 skos:exactMatch HGNC:23822 Unspecified POTED +OMIM:607549 skos:exactMatch UMLS:C1428279 Unspecified POTED +OMIM:607549 skos:exactMatch HGNC_symbol:POTED Unspecified POTED +OMIM:166800 skos:exactMatch UMLS:C4551901 Unspecified otosclerosis 1 +OMIM:607548 skos:exactMatch UMLS:C1422503 Unspecified RSPH6A +OMIM:607548 skos:exactMatch HGNC_symbol:RSPH6A Unspecified RSPH6A +OMIM:607548 skos:exactMatch HGNC:14241 Unspecified RSPH6A +OMIM:607547 skos:exactMatch UMLS:C1424740 Unspecified RPL39L +OMIM:607547 skos:exactMatch HGNC_symbol:RPL39L Unspecified RPL39L +OMIM:607547 skos:exactMatch HGNC:17094 Unspecified RPL39L +OMIM:619532 skos:exactMatch HGNC:30714 Unspecified ADAD2 +OMIM:619532 skos:exactMatch HGNC_symbol:ADAD2 Unspecified ADAD2 +OMIM:262650 skos:exactMatch UMLS:C1849779 Unspecified kowarski syndrome +OMIM:619530 skos:exactMatch HGNC:17117 Unspecified SLC35C2 +OMIM:619530 skos:exactMatch HGNC_symbol:SLC35C2 Unspecified SLC35C2 +OMIM:619535 skos:exactMatch HGNC_symbol:RNF115 Unspecified RNF115 +OMIM:619535 skos:exactMatch HGNC:18154 Unspecified RNF115 +OMIM:619536 skos:exactMatch HGNC:20060 Unspecified USP31 +OMIM:619536 skos:exactMatch HGNC_symbol:USP31 Unspecified USP31 +OMIM:619533 skos:exactMatch HGNC:16271 Unspecified RAD21L1 +OMIM:619533 skos:exactMatch HGNC_symbol:RAD21L1 Unspecified RAD21L1 +OMIM:619529 skos:exactMatch HGNC_symbol:PNLDC1 Unspecified PNLDC1 +OMIM:619529 skos:exactMatch HGNC:21185 Unspecified PNLDC1 +OMIM:619526 skos:exactMatch HGNC:24992 Unspecified ZNF706 +OMIM:619526 skos:exactMatch HGNC_symbol:ZNF706 Unspecified ZNF706 +OMIM:607553 skos:exactMatch HGNC_symbol:EPPK1 Unspecified EPPK1 +OMIM:607553 skos:exactMatch HGNC:15577 Unspecified EPPK1 +OMIM:607553 skos:exactMatch UMLS:C1423589 Unspecified EPPK1 +OMIM:607551 skos:exactMatch HGNC:10676 Unspecified SDF2L1 +OMIM:607551 skos:exactMatch HGNC_symbol:SDF2L1 Unspecified SDF2L1 +OMIM:607551 skos:exactMatch UMLS:C1419905 Unspecified SDF2L1 +OMIM:607550 skos:exactMatch HGNC_symbol:SLC16A10 Unspecified SLC16A10 +OMIM:607550 skos:exactMatch UMLS:C1424697 Unspecified SLC16A10 +OMIM:607550 skos:exactMatch HGNC:17027 Unspecified SLC16A10 +OMIM:142830 skos:exactMatch HGNC:4932 Unspecified HLA-B +OMIM:142830 skos:exactMatch UMLS:C1840547 Unspecified HLA-B +OMIM:142830 skos:exactMatch UMLS:C1415561 Unspecified HLA-B +OMIM:142830 skos:exactMatch UMLS:C1969756 Unspecified HLA-B +OMIM:142830 skos:exactMatch UMLS:C2750833 Unspecified HLA-B +OMIM:142830 skos:exactMatch HGNC_symbol:HLA-B Unspecified HLA-B +OMIM:607557 skos:exactMatch HGNC_symbol:SLC17A8 Unspecified SLC17A8 +OMIM:607557 skos:exactMatch HGNC:20151 Unspecified SLC17A8 +OMIM:607557 skos:exactMatch UMLS:C1426735 Unspecified SLC17A8 +OMIM:607556 skos:exactMatch HGNC_symbol:TWIST2 Unspecified TWIST2 +OMIM:607556 skos:exactMatch UMLS:C1427070 Unspecified TWIST2 +OMIM:607556 skos:exactMatch HGNC:20670 Unspecified TWIST2 +OMIM:607555 skos:exactMatch HGNC:11997 Unspecified TOR3A +OMIM:607555 skos:exactMatch UMLS:C1420864 Unspecified TOR3A +OMIM:607555 skos:exactMatch HGNC_symbol:TOR3A Unspecified TOR3A +OMIM:607554 skos:exactMatch UMLS:C1837014 Unspecified atrial fibrillation, familial, 3 +OMIM:607539 skos:exactMatch UMLS:C1843758 Unspecified camptosynpolydactyly, complex +OMIM:607538 skos:exactMatch HGNC_symbol:NDEL1 Unspecified NDEL1 +OMIM:607538 skos:exactMatch HGNC:17620 Unspecified NDEL1 +OMIM:607538 skos:exactMatch UMLS:C1425015 Unspecified NDEL1 +OMIM:607537 skos:exactMatch UMLS:C1843759 Unspecified MAML2 +OMIM:607537 skos:exactMatch HGNC_symbol:MAML2 Unspecified MAML2 +OMIM:607537 skos:exactMatch HGNC:16259 Unspecified MAML2 +OMIM:607537 skos:exactMatch UMLS:C1424132 Unspecified MAML2 +OMIM:607536 skos:exactMatch UMLS:C1843759 Unspecified CRTC1 +OMIM:607536 skos:exactMatch HGNC:16062 Unspecified CRTC1 +OMIM:607536 skos:exactMatch HGNC_symbol:CRTC1 Unspecified CRTC1 +OMIM:607536 skos:exactMatch UMLS:C1824798 Unspecified CRTC1 +OMIM:619524 skos:exactMatch HGNC_symbol:ZNF764 Unspecified ZNF764 +OMIM:619524 skos:exactMatch HGNC:28200 Unspecified ZNF764 +OMIM:619516 skos:exactMatch HGNC:17613 Unspecified BFAR +OMIM:619516 skos:exactMatch HGNC_symbol:BFAR Unspecified BFAR +OMIM:607542 skos:exactMatch UMLS:C1416612 Unspecified KCNQ1 +OMIM:607542 skos:exactMatch HGNC_symbol:KCNQ1 Unspecified KCNQ1 +OMIM:607542 skos:exactMatch HGNC:6294 Unspecified KCNQ1 +OMIM:607541 skos:exactMatch ORPHA:98963 Unspecified corneal dystrophy, avellino iia +OMIM:607541 skos:exactMatch UMLS:C1275685 Unspecified corneal dystrophy, avellino iia +OMIM:607540 skos:exactMatch UMLS:C1843757 Unspecified secretory diarrhea, myopathy, and deafness +OMIM:142840 skos:exactMatch HGNC:4933 Unspecified HLA-C +OMIM:142840 skos:exactMatch UMLS:C1415562 Unspecified HLA-C +OMIM:142840 skos:exactMatch HGNC_symbol:HLA-C Unspecified HLA-C +OMIM:607546 skos:exactMatch HGNC:24235 Unspecified CD200R1 +OMIM:607546 skos:exactMatch UMLS:C1540290 Unspecified CD200R1 +OMIM:607546 skos:exactMatch HGNC_symbol:CD200R1 Unspecified CD200R1 +OMIM:607545 skos:exactMatch UMLS:C1419825 Unspecified MSMO1 +OMIM:607545 skos:exactMatch HGNC_symbol:MSMO1 Unspecified MSMO1 +OMIM:607545 skos:exactMatch HGNC:10545 Unspecified MSMO1 +OMIM:607544 skos:exactMatch UMLS:C1423677 Unspecified LRPPRC +OMIM:607544 skos:exactMatch HGNC:15714 Unspecified LRPPRC +OMIM:607544 skos:exactMatch HGNC_symbol:LRPPRC Unspecified LRPPRC +OMIM:607544 skos:exactMatch UMLS:C1857355 Unspecified LRPPRC +OMIM:607543 skos:exactMatch UMLS:C1843706 Unspecified spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism +OMIM:142857 skos:exactMatch HGNC_symbol:HLA-DRB1 Unspecified HLA-DRB1 +OMIM:142857 skos:exactMatch HGNC:4948 Unspecified HLA-DRB1 +OMIM:142857 skos:exactMatch UMLS:C1415576 Unspecified HLA-DRB1 +OMIM:142858 skos:exactMatch HGNC_symbol:HLA-DPB1 Unspecified HLA-DPB1 +OMIM:142858 skos:exactMatch HGNC:4940 Unspecified HLA-DPB1 +OMIM:142858 skos:exactMatch UMLS:C1333900 Unspecified HLA-DPB1 +OMIM:619590 skos:exactMatch HGNC:25993 Unspecified PLPPR1 +OMIM:619590 skos:exactMatch HGNC_symbol:PLPPR1 Unspecified PLPPR1 +OMIM:139200 skos:exactMatch HGNC:4187 Unspecified GC +OMIM:139200 skos:exactMatch UMLS:C1367452 Unspecified GC +OMIM:139200 skos:exactMatch HGNC_symbol:GC Unspecified GC +OMIM:619591 skos:exactMatch HGNC:29566 Unspecified PLPPR2 +OMIM:619591 skos:exactMatch HGNC_symbol:PLPPR2 Unspecified PLPPR2 +OMIM:619597 skos:exactMatch HGNC:30813 Unspecified TRNAU1AP +OMIM:619597 skos:exactMatch HGNC_symbol:TRNAU1AP Unspecified TRNAU1AP +OMIM:619596 skos:exactMatch HGNC_symbol:OCIAD1 Unspecified OCIAD1 +OMIM:619596 skos:exactMatch HGNC:16074 Unspecified OCIAD1 +OMIM:178800 skos:exactMatch UMLS:C1867405 Unspecified pupil, egg-shaped +OMIM:249660 skos:exactMatch UMLS:C1855282 Unspecified mesangial sclerosis, diffuse renal, with ocular abnormalities +OMIM:235000 skos:exactMatch UMLS:C1856184 Unspecified hemihyperplasia, isolated +OMIM:139210 skos:exactMatch UMLS:C0796081 Unspecified myhre syndrome +OMIM:139210 skos:exactMatch ORPHA:2588 Unspecified myhre syndrome +OMIM:142855 skos:exactMatch HGNC:4934 Unspecified HLA-DMA +OMIM:142855 skos:exactMatch UMLS:C1415563 Unspecified HLA-DMA +OMIM:142855 skos:exactMatch HGNC_symbol:HLA-DMA Unspecified HLA-DMA +OMIM:142856 skos:exactMatch HGNC:4935 Unspecified HLA-DMB +OMIM:142856 skos:exactMatch UMLS:C1415564 Unspecified HLA-DMB +OMIM:142856 skos:exactMatch HGNC_symbol:HLA-DMB Unspecified HLA-DMB +OMIM:619583 skos:exactMatch HGNC:30682 Unspecified EHBP1L1 +OMIM:619583 skos:exactMatch HGNC_symbol:EHBP1L1 Unspecified EHBP1L1 +OMIM:619581 skos:exactMatch HGNC_symbol:SLC45A4 Unspecified SLC45A4 +OMIM:619581 skos:exactMatch HGNC:29196 Unspecified SLC45A4 +OMIM:619586 skos:exactMatch HGNC_symbol:TSPYL4 Unspecified TSPYL4 +OMIM:619586 skos:exactMatch HGNC:21559 Unspecified TSPYL4 +OMIM:619587 skos:exactMatch HGNC:29008 Unspecified ZNF629 +OMIM:619587 skos:exactMatch HGNC_symbol:ZNF629 Unspecified ZNF629 +OMIM:619584 skos:exactMatch HGNC_symbol:WSCD1 Unspecified WSCD1 +OMIM:619584 skos:exactMatch HGNC:29060 Unspecified WSCD1 +OMIM:619589 skos:exactMatch HGNC:43877 Unspecified BANCR +OMIM:619589 skos:exactMatch HGNC_symbol:BANCR Unspecified BANCR +OMIM:249670 skos:exactMatch UMLS:C0796057 Unspecified mesoaxial hexadactyly and cardiac malformation +OMIM:142860 skos:exactMatch HGNC_symbol:HLA-DRA Unspecified HLA-DRA +OMIM:142860 skos:exactMatch HGNC:4947 Unspecified HLA-DRA +OMIM:142860 skos:exactMatch UMLS:C1415575 Unspecified HLA-DRA +OMIM:250650 skos:exactMatch UMLS:C1855163 Unspecified methane production +OMIM:274600 skos:exactMatch UMLS:C0271829 Unspecified pendred syndrome +OMIM:619571 skos:exactMatch HGNC:25970 Unspecified ANKRD49 +OMIM:619571 skos:exactMatch HGNC_symbol:ANKRD49 Unspecified ANKRD49 +OMIM:619572 skos:exactMatch HGNC:31544 Unspecified MIR15B +OMIM:619572 skos:exactMatch HGNC_symbol:MIR15B Unspecified MIR15B +OMIM:140210 skos:exactMatch HGNC_symbol:HPR Unspecified HPR +OMIM:140210 skos:exactMatch HGNC:5156 Unspecified HPR +OMIM:140210 skos:exactMatch UMLS:C1337105 Unspecified HPR +OMIM:619570 skos:exactMatch HGNC:21216 Unspecified UHRF1BP1 +OMIM:619570 skos:exactMatch HGNC_symbol:UHRF1BP1 Unspecified UHRF1BP1 +OMIM:249630 skos:exactMatch UMLS:C0796080 Unspecified mental retardation, buenos aires iia +OMIM:619579 skos:exactMatch HGNC:20166 Unspecified KHNYN +OMIM:619579 skos:exactMatch HGNC_symbol:KHNYN Unspecified KHNYN +OMIM:619577 skos:exactMatch HGNC_symbol:ZGPAT Unspecified ZGPAT +OMIM:619577 skos:exactMatch HGNC:15948 Unspecified ZGPAT +OMIM:619578 skos:exactMatch HGNC:28762 Unspecified SPATA5L1 +OMIM:619578 skos:exactMatch HGNC_symbol:SPATA5L1 Unspecified SPATA5L1 +OMIM:607593 skos:exactMatch HGNC_symbol:MDC1 Unspecified MDC1 +OMIM:607593 skos:exactMatch HGNC:21163 Unspecified MDC1 +OMIM:607593 skos:exactMatch UMLS:C1427378 Unspecified MDC1 +OMIM:607592 skos:exactMatch UMLS:C1843533 Unspecified prostate cancer aggressiveness quantitative trait locus on chromosome 19 +OMIM:607591 skos:exactMatch UMLS:C1822702 Unspecified SGK3 +OMIM:607591 skos:exactMatch HGNC:10812 Unspecified SGK3 +OMIM:607591 skos:exactMatch HGNC_symbol:SGK3 Unspecified SGK3 +OMIM:607590 skos:exactMatch UMLS:C1425764 Unspecified BBS7 +OMIM:607590 skos:exactMatch HGNC:18758 Unspecified BBS7 +OMIM:607590 skos:exactMatch HGNC_symbol:BBS7 Unspecified BBS7 +OMIM:154850 skos:exactMatch UMLS:C1835093 Unspecified masticatory muscles, hypertrophy of +OMIM:142871 skos:exactMatch HGNC_symbol:HLA-G Unspecified HLA-G +OMIM:142871 skos:exactMatch HGNC:4964 Unspecified HLA-G +OMIM:142871 skos:exactMatch UMLS:C1415587 Unspecified HLA-G +OMIM:607597 skos:exactMatch UMLS:C1843492 Unspecified microphthalmia with cyst, bilateral facial clefts, and limb anomalies +OMIM:607596 skos:exactMatch UMLS:C1843504 Unspecified pontocerebellar hypoplasia, iia 1a +OMIM:607594 skos:exactMatch UMLS:C3149378 Unspecified immunodeficiency, common variable, 1 +OMIM:607594 skos:exactMatch UMLS:C0009447 Unspecified immunodeficiency, common variable, 1 +OMIM:607599 skos:exactMatch UMLS:C1426576 Unspecified RDH10 +OMIM:607599 skos:exactMatch HGNC:19975 Unspecified RDH10 +OMIM:607599 skos:exactMatch HGNC_symbol:RDH10 Unspecified RDH10 +OMIM:250620 skos:exactMatch UMLS:C0342738 Unspecified 3-hydroxyisobutyryl-coa hydrolase deficiency +OMIM:607598 skos:exactMatch UMLS:C1843478 Unspecified lethal congenital contracture syndrome 2 +OMIM:619560 skos:exactMatch HGNC:31760 Unspecified MIR135B +OMIM:619560 skos:exactMatch HGNC_symbol:MIR135B Unspecified MIR135B +OMIM:619564 skos:exactMatch HGNC_symbol:CLXN Unspecified EFCAB1 +OMIM:619564 skos:exactMatch HGNC:25678 Unspecified EFCAB1 +OMIM:619563 skos:exactMatch HGNC:29804 Unspecified MICALL1 +OMIM:619563 skos:exactMatch HGNC_symbol:MICALL1 Unspecified MICALL1 +OMIM:262600 skos:exactMatch ORPHA:90695 Unspecified pituitary hormone deficiency, combined, 2 +OMIM:262600 skos:exactMatch UMLS:C0878683 Unspecified pituitary hormone deficiency, combined, 2 +OMIM:262600 skos:exactMatch ORPHA:95494 Unspecified pituitary hormone deficiency, combined, 2 +OMIM:262600 skos:exactMatch UMLS:C0242343 Unspecified pituitary hormone deficiency, combined, 2 +OMIM:619568 skos:exactMatch HGNC:29129 Unspecified ENDOD1 +OMIM:619568 skos:exactMatch HGNC_symbol:ENDOD1 Unspecified ENDOD1 +OMIM:619569 skos:exactMatch HGNC_symbol:C9orf78 Unspecified C9ORF78 +OMIM:619569 skos:exactMatch HGNC:24932 Unspecified C9ORF78 +OMIM:619567 skos:exactMatch HGNC_symbol:EFCAB3 Unspecified EFCAB3 +OMIM:619567 skos:exactMatch HGNC:26379 Unspecified EFCAB3 +OMIM:619559 skos:exactMatch HGNC_symbol:EFCAB14 Unspecified EFCAB14 +OMIM:619559 skos:exactMatch HGNC:29051 Unspecified EFCAB14 +OMIM:607582 skos:exactMatch HGNC_symbol:SLC22A6 Unspecified SLC22A6 +OMIM:607582 skos:exactMatch UMLS:C1420141 Unspecified SLC22A6 +OMIM:607582 skos:exactMatch HGNC:10970 Unspecified SLC22A6 +OMIM:607581 skos:exactMatch HGNC_symbol:SLC22A8 Unspecified SLC22A8 +OMIM:607581 skos:exactMatch UMLS:C1420143 Unspecified SLC22A8 +OMIM:607581 skos:exactMatch HGNC:10972 Unspecified SLC22A8 +OMIM:142880 skos:exactMatch HGNC_symbol:HLA-DPA1 Unspecified HLA-DPA1 +OMIM:142880 skos:exactMatch HGNC:4938 Unspecified HLA-DPA1 +OMIM:142880 skos:exactMatch UMLS:C1415567 Unspecified HLA-DPA1 +OMIM:607580 skos:exactMatch UMLS:C1425270 Unspecified SLC22A10 +OMIM:607580 skos:exactMatch HGNC:18057 Unspecified SLC22A10 +OMIM:607580 skos:exactMatch HGNC_symbol:SLC22A10 Unspecified SLC22A10 +OMIM:152200 skos:exactMatch UMLS:C1835362 Unspecified LPA +OMIM:152200 skos:exactMatch HGNC_symbol:LPA Unspecified LPA +OMIM:152200 skos:exactMatch UMLS:C4016246 Unspecified LPA +OMIM:152200 skos:exactMatch UMLS:C4016245 Unspecified LPA +OMIM:152200 skos:exactMatch HGNC:6667 Unspecified LPA +OMIM:152200 skos:exactMatch UMLS:C0065058 Unspecified LPA +OMIM:152200 skos:exactMatch UMLS:C5436941 Unspecified LPA +OMIM:249650 skos:exactMatch UMLS:C0796055 Unspecified mercaptolactate-cysteine disulfiduria +OMIM:607586 skos:exactMatch HGNC:14435 Unspecified CARF +OMIM:607586 skos:exactMatch UMLS:C1422645 Unspecified CARF +OMIM:607586 skos:exactMatch HGNC_symbol:CARF Unspecified CARF +OMIM:607585 skos:exactMatch UMLS:C0004135 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C4721414 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C1876175 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C3469522 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C0346153 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C4017103 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C4017104 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C4017101 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C4017102 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C4017100 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C4017098 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C4017099 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C0919524 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C0740457 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C1843542 Unspecified ATM +OMIM:607585 skos:exactMatch UMLS:C4015968 Unspecified ATM +OMIM:607585 skos:exactMatch HGNC_symbol:ATM Unspecified ATM +OMIM:607585 skos:exactMatch HGNC:795 Unspecified ATM +OMIM:139240 skos:exactMatch HGNC_symbol:GH2 Unspecified GH2 +OMIM:139240 skos:exactMatch HGNC:4262 Unspecified GH2 +OMIM:139240 skos:exactMatch UMLS:C1415062 Unspecified GH2 +OMIM:607584 skos:exactMatch UMLS:C1843569 Unspecified spastic paraplegia 24, autosomal recessive +OMIM:607583 skos:exactMatch UMLS:C1426775 Unspecified PEX11G +OMIM:607583 skos:exactMatch HGNC:20208 Unspecified PEX11G +OMIM:607583 skos:exactMatch HGNC_symbol:PEX11G Unspecified PEX11G +OMIM:607589 skos:exactMatch HGNC_symbol:SGK2 Unspecified SGK2 +OMIM:607589 skos:exactMatch UMLS:C1422258 Unspecified SGK2 +OMIM:607589 skos:exactMatch HGNC:13900 Unspecified SGK2 +OMIM:607588 skos:exactMatch HGNC:9261 Unspecified PPIL2 +OMIM:607588 skos:exactMatch UMLS:C1418801 Unspecified PPIL2 +OMIM:607588 skos:exactMatch HGNC_symbol:PPIL2 Unspecified PPIL2 +OMIM:607587 skos:exactMatch HGNC_symbol:IL17D Unspecified IL17D +OMIM:607587 skos:exactMatch HGNC:5984 Unspecified IL17D +OMIM:607587 skos:exactMatch UMLS:C1416390 Unspecified IL17D +OMIM:164200 skos:exactMatch UMLS:C0812437 Unspecified oculodentodigital dysplasia +OMIM:142890 skos:exactMatch UMLS:C1840540 Unspecified HLA-MT +OMIM:154870 skos:exactMatch UMLS:C1334506 Unspecified MGP +OMIM:154870 skos:exactMatch HGNC:7060 Unspecified MGP +OMIM:154870 skos:exactMatch HGNC_symbol:MGP Unspecified MGP +OMIM:139250 skos:exactMatch HGNC_symbol:GH1 Unspecified GH1 +OMIM:139250 skos:exactMatch UMLS:C1333673 Unspecified GH1 +OMIM:139250 skos:exactMatch HGNC:4261 Unspecified GH1 +OMIM:139259 skos:exactMatch UMLS:C1415324 Unspecified GSPT1 +OMIM:139259 skos:exactMatch HGNC_symbol:GSPT1 Unspecified GSPT1 +OMIM:139259 skos:exactMatch HGNC:4621 Unspecified GSPT1 +OMIM:139255 skos:exactMatch HGNC:7408 Unspecified MT3 +OMIM:139255 skos:exactMatch HGNC_symbol:MT3 Unspecified MT3 +OMIM:139255 skos:exactMatch UMLS:C1334534 Unspecified MT3 +OMIM:191830 skos:exactMatch UMLS:C1619700 Unspecified renal hypodysplasia/aplasia 1 +OMIM:249620 skos:exactMatch UMLS:C0796094 Unspecified ohdo syndrome +OMIM:211000 skos:exactMatch UMLS:C0268478 Unspecified blue diaper syndrome +OMIM:139265 skos:exactMatch UMLS:C4016138 Unspecified GMPR +OMIM:139265 skos:exactMatch HGNC:4376 Unspecified GMPR +OMIM:139265 skos:exactMatch HGNC_symbol:GMPR Unspecified GMPR +OMIM:139265 skos:exactMatch UMLS:C1415135 Unspecified GMPR +OMIM:139260 skos:exactMatch HGNC:4212 Unspecified GDA +OMIM:139260 skos:exactMatch UMLS:C1415029 Unspecified GDA +OMIM:139260 skos:exactMatch HGNC_symbol:GDA Unspecified GDA +OMIM:191800 skos:exactMatch UMLS:C5231389 Unspecified bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut +OMIM:191800 skos:exactMatch UMLS:C0403645 Unspecified bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut +OMIM:223000 skos:exactMatch UMLS:C0268179 Unspecified lactase deficiency, congenital +OMIM:164220 skos:exactMatch UMLS:C1834038 Unspecified schilbach-rott syndrome +OMIM:176200 skos:exactMatch UMLS:C3149848 Unspecified variegate porphyria +OMIM:176200 skos:exactMatch UMLS:C0162532 Unspecified variegate porphyria +OMIM:308500 skos:exactMatch UMLS:C1839928 Unspecified iris hypoplasia with glaucoma +OMIM:139270 skos:exactMatch HGNC:4693 Unspecified GUK1 +OMIM:139270 skos:exactMatch UMLS:C1415367 Unspecified GUK1 +OMIM:139270 skos:exactMatch HGNC_symbol:GUK1 Unspecified GUK1 +OMIM:164210 skos:exactMatch UMLS:C3495417 Unspecified craniofacial microsomia +OMIM:164210 skos:exactMatch UMLS:C0265240 Unspecified craniofacial microsomia +OMIM:249600 skos:exactMatch UMLS:C0265249 Unspecified mental retardation syndrome, mietens-weber iia +OMIM:139280 skos:exactMatch HGNC:4694 Unspecified guanylate kinase 2 +OMIM:139280 skos:exactMatch UMLS:C3887945 Unspecified guanylate kinase 2 +OMIM:139280 skos:exactMatch HGNC_symbol:GUK2 Unspecified guanylate kinase 2 +OMIM:166780 skos:exactMatch ORPHA:2792 Unspecified otofaciocervical syndrome 1 +OMIM:166780 skos:exactMatch UMLS:C3714941 Unspecified otofaciocervical syndrome 1 +OMIM:191740 skos:exactMatch HGNC:12530 Unspecified UGT1A1 +OMIM:191740 skos:exactMatch UMLS:C0537026 Unspecified UGT1A1 +OMIM:191740 skos:exactMatch HGNC_symbol:UGT1A1 Unspecified UGT1A1 +OMIM:176100 skos:exactMatch UMLS:C0162566 Unspecified porphyria cutanea tarda +OMIM:176100 skos:exactMatch UMLS:C0162569 Unspecified porphyria cutanea tarda +OMIM:154790 skos:exactMatch HGNC:8949 Unspecified PI5 +OMIM:154790 skos:exactMatch UMLS:C0919445 Unspecified PI5 +OMIM:154790 skos:exactMatch HGNC_symbol:SERPINB5 Unspecified PI5 +OMIM:188100 skos:exactMatch UMLS:C0575897 Unspecified thumb deformity +OMIM:139180 skos:exactMatch UMLS:C1415143 Unspecified GNAI2P1 +OMIM:139180 skos:exactMatch HGNC_symbol:GNAI2P1 Unspecified GNAI2P1 +OMIM:139180 skos:exactMatch HGNC:4386 Unspecified GNAI2P1 +OMIM:139185 skos:exactMatch UMLS:C1414990 Unspecified GAS1 +OMIM:139185 skos:exactMatch HGNC_symbol:GAS1 Unspecified GAS1 +OMIM:139185 skos:exactMatch HGNC:4165 Unspecified GAS1 +OMIM:191720 skos:exactMatch HGNC_symbol:NT5C Unspecified NT5C +OMIM:191720 skos:exactMatch UMLS:C1424776 Unspecified NT5C +OMIM:191720 skos:exactMatch HGNC:17144 Unspecified NT5C +OMIM:139191 skos:exactMatch UMLS:C1415064 Unspecified GHRHR +OMIM:139191 skos:exactMatch HGNC_symbol:GHRHR Unspecified GHRHR +OMIM:139191 skos:exactMatch HGNC:4266 Unspecified GHRHR +OMIM:139190 skos:exactMatch UMLS:C1333674 Unspecified GHRH +OMIM:139190 skos:exactMatch HGNC:4265 Unspecified GHRH +OMIM:139190 skos:exactMatch HGNC_symbol:GHRH Unspecified GHRH +OMIM:191730 skos:exactMatch HGNC_symbol:UPP1 Unspecified UPP1 +OMIM:191730 skos:exactMatch HGNC:12576 Unspecified UPP1 +OMIM:191730 skos:exactMatch UMLS:C1421363 Unspecified UPP1 +OMIM:164160 skos:exactMatch UMLS:C4016279 Unspecified LEP +OMIM:164160 skos:exactMatch HGNC:6553 Unspecified LEP +OMIM:164160 skos:exactMatch UMLS:C3554224 Unspecified LEP +OMIM:164160 skos:exactMatch UMLS:C1416825 Unspecified LEP +OMIM:164160 skos:exactMatch HGNC_symbol:LEP Unspecified LEP +OMIM:103285 skos:exactMatch UMLS:C1863204 Unspecified adult syndrome +OMIM:103285 skos:exactMatch ORPHA:978 Unspecified adult syndrome +OMIM:164150 skos:exactMatch UMLS:C1834078 Unspecified nystagmus, hereditary vertical +OMIM:103270 skos:exactMatch UMLS:C1414575 Unspecified FDXR +OMIM:103270 skos:exactMatch HGNC_symbol:FDXR Unspecified FDXR +OMIM:103270 skos:exactMatch HGNC:3642 Unspecified FDXR +OMIM:164185 skos:exactMatch UMLS:C1282359 Unspecified ocular cicatricial pemphigoid +OMIM:164190 skos:exactMatch UMLS:C0422883 Unspecified ocular dominance +OMIM:191760 skos:exactMatch HGNC:12527 Unspecified UGP2 +OMIM:191760 skos:exactMatch UMLS:C5231487 Unspecified UGP2 +OMIM:191760 skos:exactMatch UMLS:C1421321 Unspecified UGP2 +OMIM:191760 skos:exactMatch HGNC_symbol:UGP2 Unspecified UGP2 +OMIM:103280 skos:exactMatch HGNC_symbol:H19 Unspecified H19 +OMIM:103280 skos:exactMatch UMLS:C1333887 Unspecified H19 +OMIM:103280 skos:exactMatch HGNC:4713 Unspecified H19 +OMIM:164175 skos:exactMatch HGNC_symbol:POU2F1 Unspecified POU2F1 +OMIM:164175 skos:exactMatch HGNC:9212 Unspecified POU2F1 +OMIM:164175 skos:exactMatch UMLS:C1335233 Unspecified POU2F1 +OMIM:164177 skos:exactMatch HGNC_symbol:POU5F1 Unspecified POU5F1 +OMIM:164177 skos:exactMatch UMLS:C1418768 Unspecified POU5F1 +OMIM:164177 skos:exactMatch HGNC:9221 Unspecified POU5F1 +OMIM:164176 skos:exactMatch HGNC_symbol:POU2F2 Unspecified POU2F2 +OMIM:164176 skos:exactMatch HGNC:9213 Unspecified POU2F2 +OMIM:164176 skos:exactMatch UMLS:C1335234 Unspecified POU2F2 +OMIM:164170 skos:exactMatch UMLS:C0339667 Unspecified nystagmus, voluntary +OMIM:164180 skos:exactMatch UMLS:C0796092 Unspecified oculocerebrocutaneous syndrome +OMIM:103275 skos:exactMatch HGNC:259 Unspecified ADM +OMIM:103275 skos:exactMatch HGNC_symbol:ADM Unspecified ADM +OMIM:103275 skos:exactMatch UMLS:C1412244 Unspecified ADM +OMIM:115250 skos:exactMatch UMLS:C0406817 Unspecified collagenoma, familial cutaneous +OMIM:213600 skos:exactMatch ORPHA:1980 Unspecified basal ganglia calcification, idiopathic, 1 +OMIM:213600 skos:exactMatch UMLS:C4551624 Unspecified basal ganglia calcification, idiopathic, 1 +OMIM:103260 skos:exactMatch HGNC:3638 Unspecified FDX1 +OMIM:103260 skos:exactMatch UMLS:C1414571 Unspecified FDX1 +OMIM:103260 skos:exactMatch HGNC_symbol:FDX1 Unspecified FDX1 +OMIM:127200 skos:exactMatch UMLS:C0265349 Unspecified dwarfism with stiff joints and ocular abnormalities +OMIM:115210 skos:exactMatch UMLS:C1861861 Unspecified cardiomyopathy, familial restrictive, 1 +OMIM:188150 skos:exactMatch UMLS:C1861168 Unspecified thumb deformity and alopecia +OMIM:129850 skos:exactMatch UMLS:C0795933 Unspecified edinburgh malformation syndrome +OMIM:103220 skos:exactMatch UMLS:C1335833 Unspecified SLC25A4 +OMIM:103220 skos:exactMatch UMLS:C4310676 Unspecified SLC25A4 +OMIM:103220 skos:exactMatch HGNC_symbol:SLC25A4 Unspecified SLC25A4 +OMIM:103220 skos:exactMatch HGNC:10990 Unspecified SLC25A4 +OMIM:103220 skos:exactMatch UMLS:C3809443 Unspecified SLC25A4 +OMIM:103220 skos:exactMatch UMLS:C1836460 Unspecified SLC25A4 +OMIM:115200 skos:exactMatch UMLS:C1449563 Unspecified cardiomyopathy, dilated, 1a +OMIM:115200 skos:exactMatch ORPHA:154 Unspecified cardiomyopathy, dilated, 1a +OMIM:115200 skos:exactMatch ORPHA:300751 Unspecified cardiomyopathy, dilated, 1a +OMIM:129840 skos:exactMatch UMLS:C1851847 Unspecified edema, familial idiopathic, prepubertal +OMIM:103230 skos:exactMatch UMLS:C0271740 Unspecified adrenocortical hypofunction, chronic primary congenital +OMIM:117850 skos:exactMatch UMLS:C1861695 Unspecified cervical hypertrichosis with underlying kyphoscoliosis +OMIM:129830 skos:exactMatch UMLS:C1851848 Unspecified ectrodactyly-cleft palate syndrome +OMIM:103200 skos:exactMatch UMLS:C0001529 Unspecified adiposis dolorosa +OMIM:129810 skos:exactMatch UMLS:C1851849 Unspecified ectrodactyly and ectodermal dysplasia without cleft lip/palate +OMIM:105850 skos:exactMatch UMLS:C1367482 Unspecified ANG +OMIM:105850 skos:exactMatch HGNC:483 Unspecified ANG +OMIM:105850 skos:exactMatch HGNC_symbol:ANG Unspecified ANG +OMIM:607649 skos:exactMatch HGNC_symbol:OSTM1 Unspecified OSTM1 +OMIM:607649 skos:exactMatch HGNC:21652 Unspecified OSTM1 +OMIM:607649 skos:exactMatch UMLS:C1427674 Unspecified OSTM1 +OMIM:607648 skos:exactMatch UMLS:C1425045 Unspecified STK39 +OMIM:607648 skos:exactMatch HGNC_symbol:STK39 Unspecified STK39 +OMIM:607648 skos:exactMatch HGNC:17717 Unspecified STK39 +OMIM:607647 skos:exactMatch HGNC:13635 Unspecified PLVAP +OMIM:607647 skos:exactMatch UMLS:C1422123 Unspecified PLVAP +OMIM:607647 skos:exactMatch HGNC_symbol:PLVAP Unspecified PLVAP +OMIM:607646 skos:exactMatch UMLS:C1538144 Unspecified ZBTB7B +OMIM:607646 skos:exactMatch HGNC:18668 Unspecified ZBTB7B +OMIM:607646 skos:exactMatch HGNC_symbol:ZBTB7B Unspecified ZBTB7B +OMIM:619631 skos:exactMatch HGNC:30852 Unspecified SNRNP35 +OMIM:619631 skos:exactMatch HGNC_symbol:SNRNP35 Unspecified SNRNP35 +OMIM:272150 skos:exactMatch UMLS:C0406726 Unspecified sugarman brachydactyly +OMIM:619634 skos:exactMatch HGNC:23075 Unspecified OSGEPL1 +OMIM:619634 skos:exactMatch HGNC_symbol:OSGEPL1 Unspecified OSGEPL1 +OMIM:619635 skos:exactMatch HGNC_symbol:ZFYVE19 Unspecified ZFYVE19 +OMIM:619635 skos:exactMatch HGNC:20758 Unspecified ZFYVE19 +OMIM:619633 skos:exactMatch HGNC:28685 Unspecified OCIAD2 +OMIM:619633 skos:exactMatch HGNC_symbol:OCIAD2 Unspecified OCIAD2 +OMIM:619627 skos:exactMatch HGNC_symbol:HEATR5B Unspecified HEATR5B +OMIM:619627 skos:exactMatch HGNC:29273 Unspecified HEATR5B +OMIM:619628 skos:exactMatch HGNC:25951 Unspecified AFTPH +OMIM:619628 skos:exactMatch HGNC_symbol:AFTPH Unspecified AFTPH +OMIM:619625 skos:exactMatch HGNC:16990 Unspecified C11ORF58 +OMIM:619625 skos:exactMatch HGNC_symbol:C11orf58 Unspecified C11ORF58 +OMIM:619626 skos:exactMatch HGNC_symbol:METTL4 Unspecified METTL4 +OMIM:619626 skos:exactMatch HGNC:24726 Unspecified METTL4 +OMIM:619629 skos:exactMatch HGNC:30240 Unspecified SNRNP27 +OMIM:619629 skos:exactMatch HGNC_symbol:SNRNP27 Unspecified SNRNP27 +OMIM:607652 skos:exactMatch UMLS:C1424823 Unspecified STK36 +OMIM:607652 skos:exactMatch HGNC:17209 Unspecified STK36 +OMIM:607652 skos:exactMatch HGNC_symbol:STK36 Unspecified STK36 +OMIM:607651 skos:exactMatch HGNC:19079 Unspecified PLEKHB1 +OMIM:607651 skos:exactMatch HGNC_symbol:PLEKHB1 Unspecified PLEKHB1 +OMIM:607651 skos:exactMatch UMLS:C1425995 Unspecified PLEKHB1 +OMIM:607650 skos:exactMatch HGNC_symbol:DEFB118 Unspecified DEFB118 +OMIM:607650 skos:exactMatch HGNC:16196 Unspecified DEFB118 +OMIM:607650 skos:exactMatch UMLS:C1424073 Unspecified DEFB118 +OMIM:607656 skos:exactMatch UMLS:C1843291 Unspecified curly hair-acral keratoderma-caries syndrome +OMIM:607655 skos:exactMatch UMLS:C1843292 Unspecified skin fragility-woolly hair syndrome +OMIM:607654 skos:exactMatch UMLS:C2931123 Unspecified keratosis palmoplantaris striata 3 +OMIM:607653 skos:exactMatch HGNC:688 Unspecified RHOJ +OMIM:607653 skos:exactMatch UMLS:C1412532 Unspecified RHOJ +OMIM:607653 skos:exactMatch HGNC_symbol:RHOJ Unspecified RHOJ +OMIM:607638 skos:exactMatch UMLS:C1413934 Unspecified DCTD +OMIM:607638 skos:exactMatch HGNC_symbol:DCTD Unspecified DCTD +OMIM:607638 skos:exactMatch HGNC:2710 Unspecified DCTD +OMIM:607637 skos:exactMatch HGNC_symbol:EMX2OS Unspecified EMX2OS +OMIM:607637 skos:exactMatch UMLS:C1425567 Unspecified EMX2OS +OMIM:607637 skos:exactMatch HGNC:18511 Unspecified EMX2OS +OMIM:607636 skos:exactMatch UMLS:C1843323 Unspecified +OMIM:607635 skos:exactMatch HGNC:15740 Unspecified CPA4 +OMIM:607635 skos:exactMatch HGNC_symbol:CPA4 Unspecified CPA4 +OMIM:607635 skos:exactMatch UMLS:C1423695 Unspecified CPA4 +OMIM:607639 skos:exactMatch HGNC_symbol:SSC4D Unspecified SSC4D +OMIM:607639 skos:exactMatch HGNC:14461 Unspecified SSC4D +OMIM:607639 skos:exactMatch UMLS:C1422667 Unspecified SSC4D +OMIM:619620 skos:exactMatch HGNC_symbol:CTRB2 Unspecified CTRB2 +OMIM:619620 skos:exactMatch HGNC:2522 Unspecified CTRB2 +OMIM:619623 skos:exactMatch HGNC_symbol:LRRN1 Unspecified LRRN1 +OMIM:619623 skos:exactMatch HGNC:20980 Unspecified LRRN1 +OMIM:619624 skos:exactMatch HGNC_symbol:LMTK3 Unspecified LMTK3 +OMIM:619624 skos:exactMatch HGNC:19295 Unspecified LMTK3 +OMIM:619622 skos:exactMatch HGNC_symbol:LAX1 Unspecified LAX1 +OMIM:619622 skos:exactMatch HGNC:26005 Unspecified LAX1 +OMIM:129900 skos:exactMatch UMLS:C1851841 Unspecified ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 +OMIM:619617 skos:exactMatch HGNC:28166 Unspecified EFCAB2 +OMIM:619617 skos:exactMatch HGNC_symbol:EFCAB2 Unspecified EFCAB2 +OMIM:619618 skos:exactMatch HGNC:26397 Unspecified LYPD5 +OMIM:619618 skos:exactMatch HGNC_symbol:LYPD5 Unspecified LYPD5 +OMIM:619619 skos:exactMatch HGNC_symbol:SERPINA11 Unspecified SERPINA11 +OMIM:619619 skos:exactMatch HGNC:19193 Unspecified SERPINA11 +OMIM:607641 skos:exactMatch UMLS:C1843315 Unspecified neuronopathy, distal hereditary motor, iia 7b +OMIM:607640 skos:exactMatch UMLS:C0752125 Unspecified ATXN7 +OMIM:607640 skos:exactMatch UMLS:C1538303 Unspecified ATXN7 +OMIM:607640 skos:exactMatch HGNC:10560 Unspecified ATXN7 +OMIM:607640 skos:exactMatch HGNC_symbol:ATXN7 Unspecified ATXN7 +OMIM:129905 skos:exactMatch UMLS:C0058967 Unspecified egasyn +OMIM:607645 skos:exactMatch UMLS:C1843305 Unspecified NSG1 +OMIM:607645 skos:exactMatch HGNC:18790 Unspecified NSG1 +OMIM:607645 skos:exactMatch HGNC_symbol:NSG1 Unspecified NSG1 +OMIM:607644 skos:exactMatch UMLS:C1843306 Unspecified candidiasis, familial, 3 +OMIM:607643 skos:exactMatch HGNC_symbol:FSCN2 Unspecified FSCN2 +OMIM:607643 skos:exactMatch HGNC:3960 Unspecified FSCN2 +OMIM:607643 skos:exactMatch UMLS:C1414820 Unspecified FSCN2 +OMIM:142900 skos:exactMatch UMLS:C0265264 Unspecified holt-oram syndrome +OMIM:607642 skos:exactMatch UMLS:C1419249 Unspecified RAI1 +OMIM:607642 skos:exactMatch HGNC_symbol:RAI1 Unspecified RAI1 +OMIM:607642 skos:exactMatch HGNC:9834 Unspecified RAI1 +OMIM:607627 skos:exactMatch HGNC:20469 Unspecified BPIFA4P +OMIM:607627 skos:exactMatch UMLS:C1843354 Unspecified BPIFA4P +OMIM:607627 skos:exactMatch HGNC_symbol:BPIFA4P Unspecified BPIFA4P +OMIM:607626 skos:exactMatch UMLS:C1843355 Unspecified ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis +OMIM:607625 skos:exactMatch UMLS:C1843366 Unspecified niemann-pick disease, iia c2 +OMIM:607625 skos:exactMatch ORPHA:646 Unspecified niemann-pick disease, iia c2 +OMIM:607624 skos:exactMatch UMLS:C1868679 Unspecified griscelli syndrome, iia 2 +OMIM:260150 skos:exactMatch UMLS:C1850102 Unspecified palant cleft palate syndrome +OMIM:607629 skos:exactMatch HGNC:29509 Unspecified APH1A +OMIM:607629 skos:exactMatch HGNC_symbol:APH1A Unspecified APH1A +OMIM:607629 skos:exactMatch UMLS:C1538913 Unspecified APH1A +OMIM:607628 skos:exactMatch UMLS:C2750893 Unspecified epilepsy, idiopathic generalized, susceptibility to, 11 +OMIM:607628 skos:exactMatch UMLS:C2750895 Unspecified epilepsy, idiopathic generalized, susceptibility to, 11 +OMIM:607628 skos:exactMatch UMLS:C2750894 Unspecified epilepsy, idiopathic generalized, susceptibility to, 11 +OMIM:619612 skos:exactMatch HGNC:24131 Unspecified BCAP29 +OMIM:619612 skos:exactMatch HGNC_symbol:BCAP29 Unspecified BCAP29 +OMIM:619610 skos:exactMatch HGNC:26735 Unspecified KIF19 +OMIM:619610 skos:exactMatch HGNC_symbol:KIF19 Unspecified KIF19 +OMIM:619604 skos:exactMatch HGNC_symbol:TMEM92 Unspecified TMEM92 +OMIM:619604 skos:exactMatch HGNC:26579 Unspecified TMEM92 +OMIM:607630 skos:exactMatch HGNC:24080 Unspecified APH1B +OMIM:607630 skos:exactMatch UMLS:C1538914 Unspecified APH1B +OMIM:607630 skos:exactMatch HGNC_symbol:APH1B Unspecified APH1B +OMIM:607634 skos:exactMatch UMLS:C1843330 Unspecified osteopetrosis, autosomal dominant 1 +OMIM:607633 skos:exactMatch HGNC_symbol:XDH Unspecified XDH +OMIM:607633 skos:exactMatch HGNC:12805 Unspecified XDH +OMIM:607633 skos:exactMatch UMLS:C1421531 Unspecified XDH +OMIM:607632 skos:exactMatch HGNC:30100 Unspecified PSENEN +OMIM:607632 skos:exactMatch HGNC_symbol:PSENEN Unspecified PSENEN +OMIM:607632 skos:exactMatch UMLS:C1538738 Unspecified PSENEN +OMIM:142910 skos:exactMatch UMLS:C3888197 Unspecified HMGCR +OMIM:142910 skos:exactMatch HGNC:5006 Unspecified HMGCR +OMIM:142910 skos:exactMatch HGNC_symbol:HMGCR Unspecified HMGCR +OMIM:142910 skos:exactMatch UMLS:C1415615 Unspecified HMGCR +OMIM:142910 skos:exactMatch UMLS:C1840531 Unspecified HMGCR +OMIM:607631 skos:exactMatch UMLS:C2750892 Unspecified epilepsy, juvenile absence, susceptibility to, 1 +OMIM:607616 skos:exactMatch UMLS:C0268248 Unspecified niemann-pick disease, iia B +OMIM:607616 skos:exactMatch UMLS:C0268243 Unspecified niemann-pick disease, iia B +OMIM:607616 skos:exactMatch UMLS:C1843418 Unspecified niemann-pick disease, iia B +OMIM:607616 skos:exactMatch UMLS:C2675644 Unspecified niemann-pick disease, iia B +OMIM:607615 skos:exactMatch HGNC:20261 Unspecified NUP58 +OMIM:607615 skos:exactMatch UMLS:C1426818 Unspecified NUP58 +OMIM:607615 skos:exactMatch HGNC_symbol:NUP58 Unspecified NUP58 +OMIM:607614 skos:exactMatch HGNC_symbol:NUP160 Unspecified NUP160 +OMIM:607614 skos:exactMatch UMLS:C1425243 Unspecified NUP160 +OMIM:607614 skos:exactMatch HGNC:18017 Unspecified NUP160 +OMIM:607613 skos:exactMatch HGNC_symbol:NUP133 Unspecified NUP133 +OMIM:607613 skos:exactMatch UMLS:C1425242 Unspecified NUP133 +OMIM:607613 skos:exactMatch HGNC:18016 Unspecified NUP133 +OMIM:607619 skos:exactMatch UMLS:C1428345 Unspecified FRMD3 +OMIM:607619 skos:exactMatch HGNC:24125 Unspecified FRMD3 +OMIM:607619 skos:exactMatch HGNC_symbol:FRMD3 Unspecified FRMD3 +OMIM:607618 skos:exactMatch HGNC:17330 Unspecified DDX28 +OMIM:607618 skos:exactMatch HGNC_symbol:DDX28 Unspecified DDX28 +OMIM:607618 skos:exactMatch UMLS:C1424908 Unspecified DDX28 +OMIM:607617 skos:exactMatch HGNC_symbol:NUP107 Unspecified NUP107 +OMIM:607617 skos:exactMatch UMLS:C1428908 Unspecified NUP107 +OMIM:607617 skos:exactMatch HGNC:29914 Unspecified NUP107 +OMIM:272120 skos:exactMatch UMLS:C0038644 Unspecified sudden infant death syndrome +OMIM:619601 skos:exactMatch HGNC_symbol:BCDIN3D Unspecified BCDIN3D +OMIM:619601 skos:exactMatch HGNC:27050 Unspecified BCDIN3D +OMIM:117900 skos:exactMatch UMLS:C0158779 Unspecified cervical rib +OMIM:619600 skos:exactMatch HGNC_symbol:AOPEP Unspecified AOPEP +OMIM:619600 skos:exactMatch HGNC:1361 Unspecified AOPEP +OMIM:607623 skos:exactMatch UMLS:C0268247 Unspecified NPC1 +OMIM:607623 skos:exactMatch UMLS:C3179455 Unspecified NPC1 +OMIM:607623 skos:exactMatch UMLS:C4017105 Unspecified NPC1 +OMIM:607623 skos:exactMatch UMLS:C4017107 Unspecified NPC1 +OMIM:607623 skos:exactMatch UMLS:C4017106 Unspecified NPC1 +OMIM:607623 skos:exactMatch HGNC:7897 Unspecified NPC1 +OMIM:607623 skos:exactMatch UMLS:C1417776 Unspecified NPC1 +OMIM:607623 skos:exactMatch HGNC_symbol:NPC1 Unspecified NPC1 +OMIM:607622 skos:exactMatch UMLS:C1418695 Unspecified PMVK +OMIM:607622 skos:exactMatch HGNC_symbol:PMVK Unspecified PMVK +OMIM:607622 skos:exactMatch HGNC:9141 Unspecified PMVK +OMIM:142920 skos:exactMatch UMLS:C1840530 Unspecified HLA-DO +OMIM:607621 skos:exactMatch HGNC_symbol:COLEC12 Unspecified COLEC12 +OMIM:607621 skos:exactMatch UMLS:C1423911 Unspecified COLEC12 +OMIM:607621 skos:exactMatch HGNC:16016 Unspecified COLEC12 +OMIM:607620 skos:exactMatch UMLS:C1413598 Unspecified COLEC10 +OMIM:607620 skos:exactMatch HGNC_symbol:COLEC10 Unspecified COLEC10 +OMIM:607620 skos:exactMatch HGNC:2220 Unspecified COLEC10 +OMIM:605028 skos:exactMatch UMLS:C1857956 Unspecified low density lipoprotein cholesterol, mild elevation of +OMIM:605029 skos:exactMatch UMLS:C1421942 Unspecified KLRF1 +OMIM:605029 skos:exactMatch HGNC_symbol:KLRF1 Unspecified KLRF1 +OMIM:605029 skos:exactMatch HGNC:13342 Unspecified KLRF1 +OMIM:166900 skos:exactMatch UMLS:C1862322 Unspecified ovalocytosis, southeast asian +OMIM:166900 skos:exactMatch UMLS:C1862324 Unspecified ovalocytosis, southeast asian +OMIM:619670 skos:exactMatch HGNC:33775 Unspecified ALKAL1 +OMIM:619670 skos:exactMatch HGNC_symbol:ALKAL1 Unspecified ALKAL1 +OMIM:619671 skos:exactMatch HGNC:27683 Unspecified ALKAL2 +OMIM:619671 skos:exactMatch HGNC_symbol:ALKAL2 Unspecified ALKAL2 +OMIM:260130 skos:exactMatch UMLS:C1850103 Unspecified pachyonychia congenita, autosomal recessive +OMIM:617011 skos:exactMatch UMLS:C4310766 Unspecified macrocephaly, dysmorphic facies, and psychomotor retardation +OMIM:619674 skos:exactMatch HGNC:16047 Unspecified PRADC1 +OMIM:619674 skos:exactMatch HGNC_symbol:PRADC1 Unspecified PRADC1 +OMIM:617010 skos:exactMatch UMLS:C1540162 Unspecified ULK4 +OMIM:617010 skos:exactMatch HGNC_symbol:ULK4 Unspecified ULK4 +OMIM:617010 skos:exactMatch HGNC:15784 Unspecified ULK4 +OMIM:619675 skos:exactMatch HGNC:17777 Unspecified UBOX5 +OMIM:619675 skos:exactMatch HGNC_symbol:UBOX5 Unspecified UBOX5 +OMIM:130950 skos:exactMatch ORPHA:2672 Unspecified encephalopathy, recurrent, of childhood +OMIM:130950 skos:exactMatch UMLS:C1851708 Unspecified encephalopathy, recurrent, of childhood +OMIM:617013 skos:exactMatch ORPHA:521406 Unspecified hypermanganesemia with dystonia 2 +OMIM:617013 skos:exactMatch UMLS:C4310765 Unspecified hypermanganesemia with dystonia 2 +OMIM:617012 skos:exactMatch UMLS:C1826741 Unspecified PVRIG +OMIM:617012 skos:exactMatch HGNC:32190 Unspecified PVRIG +OMIM:617012 skos:exactMatch HGNC_symbol:PVRIG Unspecified PVRIG +OMIM:619678 skos:exactMatch HGNC_symbol:C22orf23 Unspecified C22ORF23 +OMIM:619678 skos:exactMatch HGNC:18589 Unspecified C22ORF23 +OMIM:617015 skos:exactMatch UMLS:C1538666 Unspecified PLCXD2 +OMIM:617015 skos:exactMatch HGNC_symbol:PLCXD2 Unspecified PLCXD2 +OMIM:617015 skos:exactMatch HGNC:26462 Unspecified PLCXD2 +OMIM:619679 skos:exactMatch HGNC:30636 Unspecified TSACC +OMIM:619679 skos:exactMatch HGNC_symbol:TSACC Unspecified TSACC +OMIM:617014 skos:exactMatch UMLS:C4310764 Unspecified neutropenia, severe congenital, 7, autosomal recessive +OMIM:617017 skos:exactMatch UMLS:C4015635 Unspecified charcot-marie-tooth disease, axonal, iia 2t +OMIM:619676 skos:exactMatch HGNC_symbol:TEX37 Unspecified TEX37 +OMIM:619676 skos:exactMatch HGNC:26341 Unspecified TEX37 +OMIM:617016 skos:exactMatch UMLS:C1538667 Unspecified PLCXD3 +OMIM:617016 skos:exactMatch HGNC_symbol:PLCXD3 Unspecified PLCXD3 +OMIM:617016 skos:exactMatch HGNC:31822 Unspecified PLCXD3 +OMIM:619677 skos:exactMatch HGNC:1322 Unspecified CLDND1 +OMIM:619677 skos:exactMatch HGNC_symbol:CLDND1 Unspecified CLDND1 +OMIM:617008 skos:exactMatch UMLS:C4310767 Unspecified cerebral palsy, spastic quadriplegic, 3 +OMIM:617007 skos:exactMatch HGNC:16285 Unspecified TRIM35 +OMIM:617007 skos:exactMatch HGNC_symbol:TRIM35 Unspecified TRIM35 +OMIM:617007 skos:exactMatch UMLS:C1424153 Unspecified TRIM35 +OMIM:619669 skos:exactMatch HGNC:44654 Unspecified PIERCE2 +OMIM:619669 skos:exactMatch HGNC_symbol:PIERCE2 Unspecified PIERCE2 +OMIM:617009 skos:exactMatch HGNC:25691 Unspecified ANKRD53 +OMIM:617009 skos:exactMatch UMLS:C1823687 Unspecified ANKRD53 +OMIM:617009 skos:exactMatch HGNC_symbol:ANKRD53 Unspecified ANKRD53 +OMIM:605030 skos:exactMatch UMLS:C1420479 Unspecified STK3 +OMIM:605030 skos:exactMatch HGNC_symbol:STK3 Unspecified STK3 +OMIM:605030 skos:exactMatch HGNC:11406 Unspecified STK3 +OMIM:607691 skos:exactMatch UMLS:C1419815 Unspecified SAR1A +OMIM:607691 skos:exactMatch HGNC_symbol:SAR1A Unspecified SAR1A +OMIM:607691 skos:exactMatch HGNC:10534 Unspecified SAR1A +OMIM:607690 skos:exactMatch UMLS:C1419816 Unspecified SAR1B +OMIM:607690 skos:exactMatch HGNC:10535 Unspecified SAR1B +OMIM:607690 skos:exactMatch HGNC_symbol:SAR1B Unspecified SAR1B +OMIM:607696 skos:exactMatch HGNC_symbol:USH1G Unspecified USH1G +OMIM:607696 skos:exactMatch HGNC:16356 Unspecified USH1G +OMIM:607696 skos:exactMatch UMLS:C1424214 Unspecified USH1G +OMIM:605033 skos:exactMatch HGNC:2310 Unspecified CPLX2 +OMIM:605033 skos:exactMatch HGNC_symbol:CPLX2 Unspecified CPLX2 +OMIM:605033 skos:exactMatch UMLS:C1413671 Unspecified CPLX2 +OMIM:607695 skos:exactMatch HGNC_symbol:EEFSEC Unspecified EEFSEC +OMIM:607695 skos:exactMatch UMLS:C1539330 Unspecified EEFSEC +OMIM:607695 skos:exactMatch HGNC:24614 Unspecified EEFSEC +OMIM:605034 skos:exactMatch HGNC:17312 Unspecified TIMM23 +OMIM:605034 skos:exactMatch HGNC_symbol:TIMM23 Unspecified TIMM23 +OMIM:605034 skos:exactMatch UMLS:C1424893 Unspecified TIMM23 +OMIM:607694 skos:exactMatch ORPHA:447896 Unspecified leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism +OMIM:607694 skos:exactMatch ORPHA:447893 Unspecified leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism +OMIM:607694 skos:exactMatch ORPHA:77295 Unspecified leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism +OMIM:607694 skos:exactMatch ORPHA:88637 Unspecified leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism +OMIM:607694 skos:exactMatch ORPHA:137639 Unspecified leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism +OMIM:607694 skos:exactMatch UMLS:C2676243 Unspecified leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism +OMIM:605031 skos:exactMatch UMLS:C1420470 Unspecified PLK4 +OMIM:605031 skos:exactMatch HGNC:11397 Unspecified PLK4 +OMIM:605031 skos:exactMatch HGNC_symbol:PLK4 Unspecified PLK4 +OMIM:607693 skos:exactMatch HGNC_symbol:SECISBP2 Unspecified SECISBP2 +OMIM:607693 skos:exactMatch HGNC:30972 Unspecified SECISBP2 +OMIM:607693 skos:exactMatch UMLS:C1539743 Unspecified SECISBP2 +OMIM:605032 skos:exactMatch HGNC:2309 Unspecified CPLX1 +OMIM:605032 skos:exactMatch HGNC_symbol:CPLX1 Unspecified CPLX1 +OMIM:605032 skos:exactMatch UMLS:C1413670 Unspecified CPLX1 +OMIM:605032 skos:exactMatch UMLS:C4693810 Unspecified CPLX1 +OMIM:142930 skos:exactMatch HGNC:4936 Unspecified HLA-DNA +OMIM:142930 skos:exactMatch UMLS:C1415565 Unspecified HLA-DNA +OMIM:142930 skos:exactMatch HGNC_symbol:HLA-DOA Unspecified HLA-DNA +OMIM:605037 skos:exactMatch UMLS:C1426058 Unspecified KIF17 +OMIM:605037 skos:exactMatch HGNC_symbol:KIF17 Unspecified KIF17 +OMIM:605037 skos:exactMatch HGNC:19167 Unspecified KIF17 +OMIM:605038 skos:exactMatch HGNC:9123 Unspecified PMS2L1 +OMIM:605038 skos:exactMatch HGNC_symbol:PMS2P1 Unspecified PMS2L1 +OMIM:605038 skos:exactMatch UMLS:C1335229 Unspecified PMS2L1 +OMIM:607699 skos:exactMatch UMLS:C1419420 Unspecified RNF20 +OMIM:607699 skos:exactMatch HGNC_symbol:RNF20 Unspecified RNF20 +OMIM:607699 skos:exactMatch HGNC:10062 Unspecified RNF20 +OMIM:605035 skos:exactMatch UMLS:C1421479 Unspecified WASF1 +OMIM:605035 skos:exactMatch HGNC_symbol:WASF1 Unspecified WASF1 +OMIM:605035 skos:exactMatch HGNC:12732 Unspecified WASF1 +OMIM:607698 skos:exactMatch UMLS:C4692877 Unspecified LCOR +OMIM:607698 skos:exactMatch HGNC_symbol:LCOR Unspecified LCOR +OMIM:607698 skos:exactMatch UMLS:C1825801 Unspecified LCOR +OMIM:607698 skos:exactMatch HGNC:29503 Unspecified LCOR +OMIM:607697 skos:exactMatch HGNC:2135 Unspecified SBF2 +OMIM:607697 skos:exactMatch HGNC_symbol:SBF2 Unspecified SBF2 +OMIM:607697 skos:exactMatch UMLS:C1539727 Unspecified SBF2 +OMIM:605036 skos:exactMatch HGNC_symbol:ZNF219 Unspecified ZNF219 +OMIM:605036 skos:exactMatch UMLS:C1421707 Unspecified ZNF219 +OMIM:605036 skos:exactMatch HGNC:13011 Unspecified ZNF219 +OMIM:605019 skos:exactMatch UMLS:C1857970 Unspecified hypobetalipoproteinemia, familial, 2 +OMIM:142945 skos:exactMatch UMLS:C1840529 Unspecified holoprosencephaly 3 +OMIM:142946 skos:exactMatch UMLS:C1840528 Unspecified holoprosencephaly 4 +OMIM:605017 skos:exactMatch HGNC:12710 Unspecified VPREB3 +OMIM:605017 skos:exactMatch UMLS:C1421463 Unspecified VPREB3 +OMIM:605017 skos:exactMatch HGNC_symbol:VPREB3 Unspecified VPREB3 +OMIM:605018 skos:exactMatch HGNC_symbol:CYLD Unspecified CYLD +OMIM:605018 skos:exactMatch UMLS:C1857941 Unspecified CYLD +OMIM:605018 skos:exactMatch UMLS:C5436881 Unspecified CYLD +OMIM:605018 skos:exactMatch UMLS:C1275122 Unspecified CYLD +OMIM:605018 skos:exactMatch HGNC:2584 Unspecified CYLD +OMIM:605018 skos:exactMatch UMLS:C1851526 Unspecified CYLD +OMIM:605018 skos:exactMatch UMLS:C1413850 Unspecified CYLD +OMIM:607679 skos:exactMatch HGNC:19192 Unspecified DOCK4 +OMIM:607679 skos:exactMatch UMLS:C1426080 Unspecified DOCK4 +OMIM:607679 skos:exactMatch HGNC_symbol:DOCK4 Unspecified DOCK4 +OMIM:619660 skos:exactMatch HGNC:33624 Unspecified BCL2L15 +OMIM:619660 skos:exactMatch HGNC_symbol:BCL2L15 Unspecified BCL2L15 +OMIM:272100 skos:exactMatch UMLS:C0007795 Unspecified sudanophilic cerebral sclerosis +OMIM:619663 skos:exactMatch HGNC:28440 Unspecified UTP25 +OMIM:619663 skos:exactMatch HGNC_symbol:UTP25 Unspecified UTP25 +OMIM:617000 skos:exactMatch HGNC:3359 Unspecified ENPP4 +OMIM:617000 skos:exactMatch HGNC_symbol:ENPP4 Unspecified ENPP4 +OMIM:617000 skos:exactMatch UMLS:C1414410 Unspecified ENPP4 +OMIM:619664 skos:exactMatch HGNC_symbol:EFCAB6 Unspecified EFCAB6 +OMIM:619664 skos:exactMatch HGNC:24204 Unspecified EFCAB6 +OMIM:617002 skos:exactMatch HGNC_symbol:BICDL1 Unspecified BICDL1 +OMIM:617002 skos:exactMatch HGNC:28095 Unspecified BICDL1 +OMIM:617002 skos:exactMatch UMLS:C1824588 Unspecified BICDL1 +OMIM:617001 skos:exactMatch HGNC_symbol:ENPP5 Unspecified ENPP5 +OMIM:617001 skos:exactMatch HGNC:13717 Unspecified ENPP5 +OMIM:617001 skos:exactMatch UMLS:C1422160 Unspecified ENPP5 +OMIM:617004 skos:exactMatch UMLS:C4310769 Unspecified polycystic liver disease 2 with or without kidney cysts +OMIM:619667 skos:exactMatch HGNC:26055 Unspecified SLC35F6 +OMIM:619667 skos:exactMatch HGNC_symbol:SLC35F6 Unspecified SLC35F6 +OMIM:619668 skos:exactMatch HGNC_symbol:DERA Unspecified DERA +OMIM:619668 skos:exactMatch HGNC:24269 Unspecified DERA +OMIM:617003 skos:exactMatch UMLS:C2240340 Unspecified BICDL2 +OMIM:617003 skos:exactMatch HGNC_symbol:BICDL2 Unspecified BICDL2 +OMIM:617003 skos:exactMatch HGNC:33584 Unspecified BICDL2 +OMIM:617006 skos:exactMatch UMLS:C4310768 Unspecified autoimmune disease, multisystem, infantile-onset, 2 +OMIM:619666 skos:exactMatch HGNC_symbol:VILL Unspecified VILL +OMIM:619666 skos:exactMatch HGNC:30906 Unspecified VILL +OMIM:617005 skos:exactMatch HGNC:2038 Unspecified CLDN17 +OMIM:617005 skos:exactMatch UMLS:C1413466 Unspecified CLDN17 +OMIM:617005 skos:exactMatch HGNC_symbol:CLDN17 Unspecified CLDN17 +OMIM:619659 skos:exactMatch HGNC:30669 Unspecified SNAP47 +OMIM:619659 skos:exactMatch HGNC_symbol:SNAP47 Unspecified SNAP47 +OMIM:607681 skos:exactMatch UMLS:C1969810 Unspecified febrile seizures, familial, 8 +OMIM:607681 skos:exactMatch UMLS:C1858674 Unspecified febrile seizures, familial, 8 +OMIM:607681 skos:exactMatch UMLS:C1843244 Unspecified febrile seizures, familial, 8 +OMIM:607680 skos:exactMatch HGNC:17479 Unspecified ZNF363 +OMIM:607680 skos:exactMatch HGNC_symbol:RCHY1 Unspecified ZNF363 +OMIM:607680 skos:exactMatch UMLS:C1424977 Unspecified ZNF363 +OMIM:607685 skos:exactMatch UMLS:C0206141 Unspecified hypereosinophilic syndrome, idiopathic +OMIM:605022 skos:exactMatch HGNC:8591 Unspecified PAK2 +OMIM:605022 skos:exactMatch HGNC_symbol:PAK2 Unspecified PAK2 +OMIM:605022 skos:exactMatch UMLS:C1418260 Unspecified PAK2 +OMIM:605023 skos:exactMatch HGNC:4809 Unspecified HAO1 +OMIM:605023 skos:exactMatch UMLS:C2986382 Unspecified HAO1 +OMIM:605023 skos:exactMatch UMLS:C1415468 Unspecified HAO1 +OMIM:605023 skos:exactMatch HGNC_symbol:HAO1 Unspecified HAO1 +OMIM:607684 skos:exactMatch UMLS:C1843225 Unspecified charcot-marie-tooth disease, axonal, iia 2e +OMIM:605020 skos:exactMatch UMLS:C1421473 Unspecified VSX1 +OMIM:605020 skos:exactMatch HGNC_symbol:VSX1 Unspecified VSX1 +OMIM:605020 skos:exactMatch HGNC:12723 Unspecified VSX1 +OMIM:607683 skos:exactMatch UMLS:C1843232 Unspecified deafness, autosomal dominant 52 +OMIM:142940 skos:exactMatch HGNC_symbol:HMGCS1 Unspecified HMGCS1 +OMIM:142940 skos:exactMatch UMLS:C1415616 Unspecified HMGCS1 +OMIM:142940 skos:exactMatch HGNC:5007 Unspecified HMGCS1 +OMIM:605021 skos:exactMatch UMLS:C0917800 Unspecified myoclonic epilepsy, familial infantile +OMIM:605021 skos:exactMatch ORPHA:352582 Unspecified myoclonic epilepsy, familial infantile +OMIM:607682 skos:exactMatch UMLS:C2750888 Unspecified epilepsy, idiopathic generalized, susceptibility to, 9 +OMIM:607682 skos:exactMatch UMLS:C2750887 Unspecified epilepsy, idiopathic generalized, susceptibility to, 9 +OMIM:605026 skos:exactMatch UMLS:C1857958 Unspecified diabetes mellitus, congenital autoimmune +OMIM:607688 skos:exactMatch UMLS:C4083045 Unspecified parkinson disease 11, autosomal dominant, susceptibility to +OMIM:605027 skos:exactMatch UMLS:C4721532 Unspecified lymphoma, non-hodgkin, familial +OMIM:605024 skos:exactMatch UMLS:C1420198 Unspecified SLC4A8 +OMIM:605024 skos:exactMatch HGNC_symbol:SLC4A8 Unspecified SLC4A8 +OMIM:605024 skos:exactMatch HGNC:11034 Unspecified SLC4A8 +OMIM:607687 skos:exactMatch UMLS:C1843212 Unspecified high density lipoprotein cholesterol level quantitative trait locus 3 +OMIM:605025 skos:exactMatch UMLS:C1416486 Unspecified ITGA3 +OMIM:605025 skos:exactMatch HGNC_symbol:ITGA3 Unspecified ITGA3 +OMIM:605025 skos:exactMatch HGNC:6139 Unspecified ITGA3 +OMIM:607686 skos:exactMatch UMLS:C1426030 Unspecified FIP1L1 +OMIM:607686 skos:exactMatch HGNC_symbol:FIP1L1 Unspecified FIP1L1 +OMIM:607686 skos:exactMatch HGNC:19124 Unspecified FIP1L1 +OMIM:607686 skos:exactMatch UMLS:C1868219 Unspecified FIP1L1 +OMIM:142956 skos:exactMatch HGNC:5109 Unspecified HOXA9 +OMIM:142956 skos:exactMatch UMLS:C1333922 Unspecified HOXA9 +OMIM:142956 skos:exactMatch UMLS:C1842847 Unspecified HOXA9 +OMIM:142956 skos:exactMatch HGNC_symbol:HOXA9 Unspecified HOXA9 +OMIM:142956 skos:exactMatch UMLS:C1840524 Unspecified HOXA9 +OMIM:605008 skos:exactMatch UMLS:C1412212 Unspecified ADAMTS6 +OMIM:605008 skos:exactMatch HGNC:222 Unspecified ADAMTS6 +OMIM:605008 skos:exactMatch HGNC_symbol:ADAMTS6 Unspecified ADAMTS6 +OMIM:142957 skos:exactMatch HGNC:5100 Unspecified HOXA10 +OMIM:142957 skos:exactMatch UMLS:C1366503 Unspecified HOXA10 +OMIM:142957 skos:exactMatch HGNC_symbol:HOXA10 Unspecified HOXA10 +OMIM:605009 skos:exactMatch UMLS:C1412213 Unspecified ADAMTS7 +OMIM:605009 skos:exactMatch HGNC_symbol:ADAMTS7 Unspecified ADAMTS7 +OMIM:605009 skos:exactMatch HGNC:223 Unspecified ADAMTS7 +OMIM:605006 skos:exactMatch HGNC_symbol:FRAT2 Unspecified FRAT2 +OMIM:605006 skos:exactMatch UMLS:C1423938 Unspecified FRAT2 +OMIM:605006 skos:exactMatch HGNC:16048 Unspecified FRAT2 +OMIM:142958 skos:exactMatch HGNC:5101 Unspecified HOXA11 +OMIM:142958 skos:exactMatch UMLS:C1415654 Unspecified HOXA11 +OMIM:142958 skos:exactMatch HGNC_symbol:HOXA11 Unspecified HOXA11 +OMIM:607669 skos:exactMatch HGNC_symbol:ARL6IP1 Unspecified ARL6IP1 +OMIM:607669 skos:exactMatch UMLS:C1824208 Unspecified ARL6IP1 +OMIM:607669 skos:exactMatch HGNC:697 Unspecified ARL6IP1 +OMIM:607669 skos:exactMatch UMLS:C3810294 Unspecified ARL6IP1 +OMIM:142959 skos:exactMatch HGNC_symbol:HOXA13 Unspecified HOXA13 +OMIM:142959 skos:exactMatch HGNC:5102 Unspecified HOXA13 +OMIM:142959 skos:exactMatch UMLS:C1415655 Unspecified HOXA13 +OMIM:607668 skos:exactMatch HGNC_symbol:ARL6IP4 Unspecified ARL6IP4 +OMIM:607668 skos:exactMatch HGNC:18076 Unspecified ARL6IP4 +OMIM:607668 skos:exactMatch UMLS:C1425285 Unspecified ARL6IP4 +OMIM:605007 skos:exactMatch HGNC:221 Unspecified ADAMTS5 +OMIM:605007 skos:exactMatch UMLS:C1412211 Unspecified ADAMTS5 +OMIM:605007 skos:exactMatch HGNC_symbol:ADAMTS5 Unspecified ADAMTS5 +OMIM:139300 skos:exactMatch UMLS:C1970109 Unspecified aromatase excess syndrome +OMIM:619650 skos:exactMatch HGNC_symbol:VHLL Unspecified VHLL +OMIM:619650 skos:exactMatch HGNC:30666 Unspecified VHLL +OMIM:619654 skos:exactMatch HGNC_symbol:C3orf33 Unspecified C3ORF33 +OMIM:619654 skos:exactMatch HGNC:26434 Unspecified C3ORF33 +OMIM:619655 skos:exactMatch HGNC_symbol:RPL10L Unspecified RPL10L +OMIM:619655 skos:exactMatch HGNC:17976 Unspecified RPL10L +OMIM:178900 skos:exactMatch UMLS:C0271130 Unspecified pupillary membrane, persistence of +OMIM:607670 skos:exactMatch HGNC_symbol:STK33 Unspecified STK33 +OMIM:607670 skos:exactMatch HGNC:14568 Unspecified STK33 +OMIM:607670 skos:exactMatch UMLS:C1422762 Unspecified STK33 +OMIM:607674 skos:exactMatch UMLS:C1843257 Unspecified cataract, congenital, with mental impairment and dentate gyrus atrophy +OMIM:605011 skos:exactMatch HGNC:219 Unspecified ADAMTS3 +OMIM:605011 skos:exactMatch UMLS:C4748408 Unspecified ADAMTS3 +OMIM:605011 skos:exactMatch UMLS:C1412209 Unspecified ADAMTS3 +OMIM:605011 skos:exactMatch HGNC_symbol:ADAMTS3 Unspecified ADAMTS3 +OMIM:605012 skos:exactMatch HGNC:11465 Unspecified SUPT16H +OMIM:605012 skos:exactMatch UMLS:C1420522 Unspecified SUPT16H +OMIM:605012 skos:exactMatch HGNC_symbol:SUPT16H Unspecified SUPT16H +OMIM:607673 skos:exactMatch HGNC_symbol:EDEM1 Unspecified EDEM1 +OMIM:607673 skos:exactMatch HGNC:18967 Unspecified EDEM1 +OMIM:607673 skos:exactMatch UMLS:C1425927 Unspecified EDEM1 +OMIM:142950 skos:exactMatch HGNC_symbol:HOXA7 Unspecified HOXA7 +OMIM:142950 skos:exactMatch UMLS:C1415661 Unspecified HOXA7 +OMIM:142950 skos:exactMatch HGNC:5108 Unspecified HOXA7 +OMIM:607672 skos:exactMatch HGNC:17412 Unspecified CLCF1 +OMIM:607672 skos:exactMatch HGNC_symbol:CLCF1 Unspecified CLCF1 +OMIM:607672 skos:exactMatch UMLS:C1538472 Unspecified CLCF1 +OMIM:605010 skos:exactMatch HGNC_symbol:SPINK5 Unspecified SPINK5 +OMIM:605010 skos:exactMatch HGNC:15464 Unspecified SPINK5 +OMIM:605010 skos:exactMatch UMLS:C1423506 Unspecified SPINK5 +OMIM:607671 skos:exactMatch UMLS:C1843264 Unspecified dystonia 13, torsion, autosomal dominant +OMIM:142951 skos:exactMatch HGNC_symbol:HOXA6 Unspecified HOXA6 +OMIM:142951 skos:exactMatch UMLS:C1415660 Unspecified HOXA6 +OMIM:142951 skos:exactMatch HGNC:5107 Unspecified HOXA6 +OMIM:605015 skos:exactMatch UMLS:C1421702 Unspecified ZNF214 +OMIM:605015 skos:exactMatch HGNC_symbol:ZNF214 Unspecified ZNF214 +OMIM:605015 skos:exactMatch HGNC:13006 Unspecified ZNF214 +OMIM:607678 skos:exactMatch UMLS:C1843247 Unspecified charcot-marie-tooth disease, demyelinating, iia 1d +OMIM:142952 skos:exactMatch HGNC_symbol:HOXA5 Unspecified HOXA5 +OMIM:142952 skos:exactMatch UMLS:C1415659 Unspecified HOXA5 +OMIM:142952 skos:exactMatch HGNC:5106 Unspecified HOXA5 +OMIM:607677 skos:exactMatch UMLS:C3888087 Unspecified charcot-marie-tooth disease, axonal, iia 2i +OMIM:142953 skos:exactMatch HGNC_symbol:HOXA4 Unspecified HOXA4 +OMIM:142953 skos:exactMatch UMLS:C1415658 Unspecified HOXA4 +OMIM:142953 skos:exactMatch HGNC:5105 Unspecified HOXA4 +OMIM:605016 skos:exactMatch HGNC_symbol:ZNF215 Unspecified ZNF215 +OMIM:605016 skos:exactMatch UMLS:C1421703 Unspecified ZNF215 +OMIM:605016 skos:exactMatch HGNC:13007 Unspecified ZNF215 +OMIM:607676 skos:exactMatch UMLS:C1843256 Unspecified immunodeficiency 67 +OMIM:607676 skos:exactMatch ORPHA:70592 Unspecified immunodeficiency 67 +OMIM:142954 skos:exactMatch HGNC_symbol:HOXA3 Unspecified HOXA3 +OMIM:142954 skos:exactMatch UMLS:C1415657 Unspecified HOXA3 +OMIM:142954 skos:exactMatch HGNC:5104 Unspecified HOXA3 +OMIM:605013 skos:exactMatch UMLS:C1857977 Unspecified microhydranencephaly +OMIM:142955 skos:exactMatch HGNC_symbol:HOXA1 Unspecified HOXA1 +OMIM:142955 skos:exactMatch UMLS:C1415653 Unspecified HOXA1 +OMIM:142955 skos:exactMatch HGNC:5099 Unspecified HOXA1 +OMIM:142955 skos:exactMatch UMLS:C1832215 Unspecified HOXA1 +OMIM:142955 skos:exactMatch UMLS:C1832216 Unspecified HOXA1 +OMIM:607675 skos:exactMatch UMLS:C1538820 Unspecified RCOR +OMIM:607675 skos:exactMatch HGNC:17441 Unspecified RCOR +OMIM:607675 skos:exactMatch HGNC_symbol:RCOR1 Unspecified RCOR +OMIM:605014 skos:exactMatch HGNC:11429 Unspecified STX11 +OMIM:605014 skos:exactMatch HGNC_symbol:STX11 Unspecified STX11 +OMIM:605014 skos:exactMatch UMLS:C1420494 Unspecified STX11 +OMIM:142967 skos:exactMatch HGNC_symbol:HOXB2 Unspecified HOXB2 +OMIM:142967 skos:exactMatch UMLS:C1415665 Unspecified HOXB2 +OMIM:142967 skos:exactMatch HGNC:5113 Unspecified HOXB2 +OMIM:607659 skos:exactMatch HGNC:23115 Unspecified EAF2 +OMIM:607659 skos:exactMatch HGNC_symbol:EAF2 Unspecified EAF2 +OMIM:607659 skos:exactMatch UMLS:C1427926 Unspecified EAF2 +OMIM:142968 skos:exactMatch HGNC_symbol:HOXB1 Unspecified HOXB1 +OMIM:142968 skos:exactMatch UMLS:C1415663 Unspecified HOXB1 +OMIM:142968 skos:exactMatch HGNC:5111 Unspecified HOXB1 +OMIM:139314 skos:exactMatch HGNC:4383 Unspecified GNA15 +OMIM:139314 skos:exactMatch UMLS:C1415141 Unspecified GNA15 +OMIM:139314 skos:exactMatch HGNC_symbol:GNA15 Unspecified GNA15 +OMIM:607658 skos:exactMatch UMLS:C1843285 Unspecified hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome +OMIM:166910 skos:exactMatch UMLS:C1833689 Unspecified ovalocytosis, hereditary hemolytic, with defective erythropoiesis +OMIM:607657 skos:exactMatch UMLS:C1413792 Unspecified CTH +OMIM:607657 skos:exactMatch UMLS:C5436963 Unspecified CTH +OMIM:607657 skos:exactMatch HGNC:2501 Unspecified CTH +OMIM:607657 skos:exactMatch HGNC_symbol:CTH Unspecified CTH +OMIM:607657 skos:exactMatch UMLS:C0220993 Unspecified CTH +OMIM:140300 skos:exactMatch UMLS:C0677607 Unspecified hashimoto thyroiditis +OMIM:140300 skos:exactMatch UMLS:C3887534 Unspecified hashimoto thyroiditis +OMIM:139311 skos:exactMatch UMLS:C4479569 Unspecified GNAO1 +OMIM:139311 skos:exactMatch HGNC:4389 Unspecified GNAO1 +OMIM:139311 skos:exactMatch UMLS:C1415146 Unspecified GNAO1 +OMIM:139311 skos:exactMatch UMLS:C3809606 Unspecified GNAO1 +OMIM:139311 skos:exactMatch HGNC_symbol:GNAO1 Unspecified GNAO1 +OMIM:139310 skos:exactMatch HGNC:4384 Unspecified GNAI1 +OMIM:139310 skos:exactMatch UMLS:C1415142 Unspecified GNAI1 +OMIM:139310 skos:exactMatch HGNC_symbol:GNAI1 Unspecified GNAI1 +OMIM:139313 skos:exactMatch HGNC:4379 Unspecified GNA11 +OMIM:139313 skos:exactMatch UMLS:C3809243 Unspecified GNA11 +OMIM:139313 skos:exactMatch UMLS:C1415138 Unspecified GNA11 +OMIM:139313 skos:exactMatch UMLS:C1840347 Unspecified GNA11 +OMIM:139313 skos:exactMatch HGNC_symbol:GNA11 Unspecified GNA11 +OMIM:139312 skos:exactMatch HGNC:4388 Unspecified GNAL +OMIM:139312 skos:exactMatch HGNC_symbol:GNAL Unspecified GNAL +OMIM:139312 skos:exactMatch UMLS:C1415145 Unspecified GNAL +OMIM:619642 skos:exactMatch HGNC:16996 Unspecified TMED2 +OMIM:619642 skos:exactMatch HGNC_symbol:TMED2 Unspecified TMED2 +OMIM:260100 skos:exactMatch UMLS:C1850104 Unspecified pa polymorphism of alpha-2-globulin +OMIM:619640 skos:exactMatch HGNC:22224 Unspecified KDM7A +OMIM:619640 skos:exactMatch HGNC_symbol:KDM7A Unspecified KDM7A +OMIM:250790 skos:exactMatch UMLS:C4285231 Unspecified methemoglobinemia and ambiguous genitalia +OMIM:605000 skos:exactMatch HGNC_symbol:CORO1A Unspecified CORO1A +OMIM:605000 skos:exactMatch HGNC:2252 Unspecified CORO1A +OMIM:605000 skos:exactMatch UMLS:C1413622 Unspecified CORO1A +OMIM:607663 skos:exactMatch HGNC:18698 Unspecified DDX25 +OMIM:607663 skos:exactMatch HGNC_symbol:DDX25 Unspecified DDX25 +OMIM:607663 skos:exactMatch UMLS:C1425718 Unspecified DDX25 +OMIM:607662 skos:exactMatch UMLS:C1422836 Unspecified SPATA2 +OMIM:607662 skos:exactMatch HGNC_symbol:SPATA2 Unspecified SPATA2 +OMIM:607662 skos:exactMatch HGNC:14681 Unspecified SPATA2 +OMIM:605001 skos:exactMatch HGNC_symbol:ANGPTL2 Unspecified ANGPTL2 +OMIM:605001 skos:exactMatch HGNC:490 Unspecified ANGPTL2 +OMIM:605001 skos:exactMatch UMLS:C1412400 Unspecified ANGPTL2 +OMIM:142960 skos:exactMatch HGNC_symbol:HOXB5 Unspecified HOXB5 +OMIM:142960 skos:exactMatch UMLS:C1415668 Unspecified HOXB5 +OMIM:142960 skos:exactMatch HGNC:5116 Unspecified HOXB5 +OMIM:139320 skos:exactMatch HGNC:4392 Unspecified GNAS +OMIM:139320 skos:exactMatch HGNC_symbol:GNAS Unspecified GNAS +OMIM:139320 skos:exactMatch UMLS:C1366550 Unspecified GNAS +OMIM:142961 skos:exactMatch HGNC_symbol:HOXB6 Unspecified HOXB6 +OMIM:142961 skos:exactMatch UMLS:C1415669 Unspecified HOXB6 +OMIM:142961 skos:exactMatch HGNC:5117 Unspecified HOXB6 +OMIM:607660 skos:exactMatch UMLS:C1540104 Unspecified TSSK3 +OMIM:607660 skos:exactMatch HGNC_symbol:TSSK3 Unspecified TSSK3 +OMIM:607660 skos:exactMatch HGNC:15473 Unspecified TSSK3 +OMIM:142962 skos:exactMatch HGNC_symbol:HOXB7 Unspecified HOXB7 +OMIM:142962 skos:exactMatch UMLS:C1415670 Unspecified HOXB7 +OMIM:142962 skos:exactMatch HGNC:5118 Unspecified HOXB7 +OMIM:247150 skos:exactMatch UMLS:C1855497 Unspecified lip prints +OMIM:605004 skos:exactMatch HGNC:4617 Unspecified GSK3B +OMIM:605004 skos:exactMatch HGNC_symbol:GSK3B Unspecified GSK3B +OMIM:605004 skos:exactMatch UMLS:C1415321 Unspecified GSK3B +OMIM:607667 skos:exactMatch HGNC_symbol:CTNNA3 Unspecified CTNNA3 +OMIM:607667 skos:exactMatch HGNC:2511 Unspecified CTNNA3 +OMIM:607667 skos:exactMatch UMLS:C1413797 Unspecified CTNNA3 +OMIM:142963 skos:exactMatch HGNC_symbol:HOXB8 Unspecified HOXB8 +OMIM:142963 skos:exactMatch UMLS:C1415671 Unspecified HOXB8 +OMIM:142963 skos:exactMatch HGNC:5119 Unspecified HOXB8 +OMIM:605005 skos:exactMatch HGNC:4129 Unspecified GALNT7 +OMIM:605005 skos:exactMatch HGNC_symbol:GALNT7 Unspecified GALNT7 +OMIM:605005 skos:exactMatch UMLS:C1414957 Unspecified GALNT7 +OMIM:607666 skos:exactMatch HGNC_symbol:ANGPTL5 Unspecified ANGPTL5 +OMIM:607666 skos:exactMatch HGNC:19705 Unspecified ANGPTL5 +OMIM:607666 skos:exactMatch UMLS:C1426346 Unspecified ANGPTL5 +OMIM:142964 skos:exactMatch HGNC_symbol:HOXB9 Unspecified HOXB9 +OMIM:142964 skos:exactMatch UMLS:C1415672 Unspecified HOXB9 +OMIM:142964 skos:exactMatch HGNC:5120 Unspecified HOXB9 +OMIM:142965 skos:exactMatch HGNC_symbol:HOXB4 Unspecified HOXB4 +OMIM:142965 skos:exactMatch UMLS:C1415667 Unspecified HOXB4 +OMIM:142965 skos:exactMatch HGNC:5115 Unspecified HOXB4 +OMIM:605002 skos:exactMatch HGNC_symbol:CORO2B Unspecified CORO2B +OMIM:605002 skos:exactMatch HGNC:2256 Unspecified CORO2B +OMIM:605002 skos:exactMatch UMLS:C1413626 Unspecified CORO2B +OMIM:607665 skos:exactMatch UMLS:C1843273 Unspecified tubulointerstitial nephritis with uveitis +OMIM:607665 skos:exactMatch UMLS:C1843274 Unspecified tubulointerstitial nephritis with uveitis +OMIM:607664 skos:exactMatch HGNC:4422 Unspecified GNS +OMIM:607664 skos:exactMatch UMLS:C1415172 Unspecified GNS +OMIM:607664 skos:exactMatch HGNC_symbol:GNS Unspecified GNS +OMIM:605003 skos:exactMatch UMLS:C1857982 Unspecified SENP6 +OMIM:605003 skos:exactMatch UMLS:C1427200 Unspecified SENP6 +OMIM:605003 skos:exactMatch HGNC:20944 Unspecified SENP6 +OMIM:605003 skos:exactMatch HGNC_symbol:SENP6 Unspecified SENP6 +OMIM:142966 skos:exactMatch HGNC_symbol:HOXB3 Unspecified HOXB3 +OMIM:142966 skos:exactMatch UMLS:C1415666 Unspecified HOXB3 +OMIM:142966 skos:exactMatch HGNC:5114 Unspecified HOXB3 +OMIM:166945 skos:exactMatch HGNC_symbol:NBR1 Unspecified NBR1 +OMIM:166945 skos:exactMatch HGNC:6746 Unspecified NBR1 +OMIM:166945 skos:exactMatch UMLS:C1538046 Unspecified NBR1 +OMIM:191900 skos:exactMatch UMLS:C0268390 Unspecified muckle-wells syndrome +OMIM:617051 skos:exactMatch UMLS:C4310745 Unspecified neurodevelopmental disorder with microcephaly and gray sclerae +OMIM:617051 skos:exactMatch ORPHA:488627 Unspecified neurodevelopmental disorder with microcephaly and gray sclerae +OMIM:617050 skos:exactMatch UMLS:C4310746 Unspecified hermansky-pudlak syndrome 10 +OMIM:617053 skos:exactMatch UMLS:C4284088 Unspecified mirage syndrome +OMIM:617053 skos:exactMatch ORPHA:494433 Unspecified mirage syndrome +OMIM:617052 skos:exactMatch UMLS:C4310744 Unspecified bone marrow failure syndrome 3 +OMIM:617055 skos:exactMatch UMLS:C4310742 Unspecified perching syndrome +OMIM:617055 skos:exactMatch ORPHA:157820 Unspecified perching syndrome +OMIM:617054 skos:exactMatch UMLS:C4310743 Unspecified striatonigral degeneration, childhood-onset +OMIM:617054 skos:exactMatch ORPHA:497906 Unspecified striatonigral degeneration, childhood-onset +OMIM:617057 skos:exactMatch UMLS:C2829195 Unspecified CTU2 +OMIM:617057 skos:exactMatch HGNC_symbol:CTU2 Unspecified CTU2 +OMIM:617057 skos:exactMatch HGNC:28005 Unspecified CTU2 +OMIM:617056 skos:exactMatch UMLS:C4310741 Unspecified tubulointerstitial kidney disease, autosomal dominant, 5 +OMIM:617059 skos:exactMatch HGNC_symbol:ZDBF2 Unspecified ZDBF2 +OMIM:617059 skos:exactMatch UMLS:C4479125 Unspecified ZDBF2 +OMIM:617059 skos:exactMatch UMLS:C2240188 Unspecified ZDBF2 +OMIM:617059 skos:exactMatch HGNC:29313 Unspecified ZDBF2 +OMIM:617058 skos:exactMatch HGNC:14175 Unspecified TSR3 +OMIM:617058 skos:exactMatch HGNC_symbol:TSR3 Unspecified TSR3 +OMIM:617058 skos:exactMatch UMLS:C1422463 Unspecified TSR3 +OMIM:605070 skos:exactMatch HGNC:3185 Unspecified EEA1 +OMIM:605070 skos:exactMatch HGNC_symbol:EEA1 Unspecified EEA1 +OMIM:605070 skos:exactMatch UMLS:C1414266 Unspecified EEA1 +OMIM:605073 skos:exactMatch HGNC:7523 Unspecified TRIM37 +OMIM:605073 skos:exactMatch UMLS:C1417503 Unspecified TRIM37 +OMIM:605073 skos:exactMatch HGNC_symbol:TRIM37 Unspecified TRIM37 +OMIM:605074 skos:exactMatch UMLS:C1336839 Unspecified renal cell carcinoma, papillary, 1 +OMIM:605071 skos:exactMatch HGNC:13735 Unspecified RGS19 +OMIM:605071 skos:exactMatch UMLS:C1422173 Unspecified RGS19 +OMIM:605071 skos:exactMatch HGNC_symbol:RGS19 Unspecified RGS19 +OMIM:154950 skos:exactMatch HGNC_symbol:MAX Unspecified MAX +OMIM:154950 skos:exactMatch UMLS:C0919516 Unspecified MAX +OMIM:154950 skos:exactMatch HGNC:6913 Unspecified MAX +OMIM:605072 skos:exactMatch UMLS:C5394548 Unspecified GIPC1 +OMIM:605072 skos:exactMatch UMLS:C1825351 Unspecified GIPC1 +OMIM:605072 skos:exactMatch HGNC:1226 Unspecified GIPC1 +OMIM:605072 skos:exactMatch HGNC_symbol:GIPC1 Unspecified GIPC1 +OMIM:142970 skos:exactMatch HGNC_symbol:HOXC8 Unspecified HOXC8 +OMIM:142970 skos:exactMatch UMLS:C1415680 Unspecified HOXC8 +OMIM:142970 skos:exactMatch HGNC:5129 Unspecified HOXC8 +OMIM:605077 skos:exactMatch UMLS:C1425426 Unspecified DNMAP1 +OMIM:605077 skos:exactMatch HGNC_symbol:DMAP1 Unspecified DNMAP1 +OMIM:605077 skos:exactMatch HGNC:18291 Unspecified DNMAP1 +OMIM:605078 skos:exactMatch HGNC_symbol:TARDBP Unspecified TARDBP +OMIM:605078 skos:exactMatch HGNC:11571 Unspecified TARDBP +OMIM:605078 skos:exactMatch UMLS:C1420588 Unspecified TARDBP +OMIM:142971 skos:exactMatch HGNC_symbol:HOXC9 Unspecified HOXC9 +OMIM:142971 skos:exactMatch UMLS:C1415681 Unspecified HOXC9 +OMIM:142971 skos:exactMatch HGNC:5130 Unspecified HOXC9 +OMIM:142972 skos:exactMatch HGNC_symbol:HOXC6 Unspecified HOXC6 +OMIM:142972 skos:exactMatch HGNC:5128 Unspecified HOXC6 +OMIM:142972 skos:exactMatch UMLS:C1333923 Unspecified HOXC6 +OMIM:139330 skos:exactMatch HGNC:4393 Unspecified GNAT1 +OMIM:139330 skos:exactMatch UMLS:C1415148 Unspecified GNAT1 +OMIM:139330 skos:exactMatch HGNC_symbol:GNAT1 Unspecified GNAT1 +OMIM:605076 skos:exactMatch HGNC:11135 Unspecified SNAPC2 +OMIM:605076 skos:exactMatch HGNC_symbol:SNAPC2 Unspecified SNAPC2 +OMIM:605076 skos:exactMatch UMLS:C1420273 Unspecified SNAPC2 +OMIM:142973 skos:exactMatch HGNC_symbol:HOXC5 Unspecified HOXC5 +OMIM:142973 skos:exactMatch UMLS:C1415679 Unspecified HOXC5 +OMIM:142973 skos:exactMatch HGNC:5127 Unspecified HOXC5 +OMIM:142974 skos:exactMatch HGNC_symbol:HOXC4 Unspecified HOXC4 +OMIM:142974 skos:exactMatch UMLS:C1415678 Unspecified HOXC4 +OMIM:142974 skos:exactMatch HGNC:5126 Unspecified HOXC4 +OMIM:142975 skos:exactMatch UMLS:C1415676 Unspecified HOXC12 +OMIM:142975 skos:exactMatch HGNC_symbol:HOXC12 Unspecified HOXC12 +OMIM:142975 skos:exactMatch HGNC:5124 Unspecified HOXC12 +OMIM:605079 skos:exactMatch HGNC_symbol:SALL3 Unspecified SALL3 +OMIM:605079 skos:exactMatch UMLS:C1419811 Unspecified SALL3 +OMIM:605079 skos:exactMatch HGNC:10527 Unspecified SALL3 +OMIM:142976 skos:exactMatch UMLS:C1840515 Unspecified HOXC13 +OMIM:142976 skos:exactMatch UMLS:C1415677 Unspecified HOXC13 +OMIM:142976 skos:exactMatch HGNC_symbol:HOXC13 Unspecified HOXC13 +OMIM:142976 skos:exactMatch HGNC:5125 Unspecified HOXC13 +OMIM:142989 skos:exactMatch UMLS:C1415687 Unspecified HOXD13 +OMIM:142989 skos:exactMatch HGNC:5136 Unspecified HOXD13 +OMIM:142989 skos:exactMatch HGNC_symbol:HOXD13 Unspecified HOXD13 +OMIM:617040 skos:exactMatch HGNC:33921 Unspecified MIR1231 +OMIM:617040 skos:exactMatch UMLS:C2239749 Unspecified MIR1231 +OMIM:617040 skos:exactMatch HGNC_symbol:MIR1231 Unspecified MIR1231 +OMIM:617042 skos:exactMatch HGNC:25697 Unspecified GSDMD +OMIM:617042 skos:exactMatch UMLS:C1539620 Unspecified GSDMD +OMIM:617042 skos:exactMatch HGNC_symbol:GSDMD Unspecified GSDMD +OMIM:617041 skos:exactMatch ORPHA:529574 Unspecified duane retraction syndrome 3 with or without deafness +OMIM:617041 skos:exactMatch UMLS:C4310752 Unspecified duane retraction syndrome 3 with or without deafness +OMIM:617041 skos:exactMatch ORPHA:233 Unspecified duane retraction syndrome 3 with or without deafness +OMIM:617044 skos:exactMatch UMLS:C4310751 Unspecified short stature, developmental delay, and congenital heart defects +OMIM:617043 skos:exactMatch UMLS:C1427723 Unspecified ARHGEF17 +OMIM:617043 skos:exactMatch HGNC_symbol:ARHGEF17 Unspecified ARHGEF17 +OMIM:617043 skos:exactMatch HGNC:21726 Unspecified ARHGEF17 +OMIM:617046 skos:exactMatch UMLS:C4310750 Unspecified spastic paraplegia 77, autosomal recessive +OMIM:617045 skos:exactMatch HGNC:25883 Unspecified ZNF703 +OMIM:617045 skos:exactMatch UMLS:C1824002 Unspecified ZNF703 +OMIM:617045 skos:exactMatch HGNC_symbol:ZNF703 Unspecified ZNF703 +OMIM:617048 skos:exactMatch HGNC:27030 Unspecified DNAJC21 +OMIM:617048 skos:exactMatch HGNC_symbol:DNAJC21 Unspecified DNAJC21 +OMIM:617048 skos:exactMatch UMLS:C2239357 Unspecified DNAJC21 +OMIM:617047 skos:exactMatch UMLS:C4310748 Unspecified cardiomyopathy, familial hypertrophic, 26 +OMIM:617047 skos:exactMatch UMLS:C4310749 Unspecified cardiomyopathy, familial hypertrophic, 26 +OMIM:617049 skos:exactMatch UMLS:C4310747 Unspecified cholestasis, progressive familial intrahepatic, 5 +OMIM:605062 skos:exactMatch UMLS:C1423048 Unspecified TAS2R5 +OMIM:605062 skos:exactMatch HGNC:14912 Unspecified TAS2R5 +OMIM:605062 skos:exactMatch HGNC_symbol:TAS2R5 Unspecified TAS2R5 +OMIM:152300 skos:exactMatch UMLS:C1835359 Unspecified lipoprotein types--lt system +OMIM:605063 skos:exactMatch HGNC_symbol:STIP1 Unspecified STIP1 +OMIM:605063 skos:exactMatch HGNC:11387 Unspecified STIP1 +OMIM:605063 skos:exactMatch UMLS:C1420462 Unspecified STIP1 +OMIM:605060 skos:exactMatch HGNC_symbol:SHPK Unspecified SHPK +OMIM:605060 skos:exactMatch HGNC:1492 Unspecified SHPK +OMIM:605060 skos:exactMatch UMLS:C1413125 Unspecified SHPK +OMIM:259100 skos:exactMatch ORPHA:2796 Unspecified hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +OMIM:259100 skos:exactMatch ORPHA:1525 Unspecified hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +OMIM:259100 skos:exactMatch UMLS:C0029411 Unspecified hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +OMIM:259100 skos:exactMatch UMLS:C2678439 Unspecified hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +OMIM:259100 skos:exactMatch UMLS:C4551679 Unspecified hypertrophic osteoarthropathy, primary, autosomal recessive, 1 +OMIM:142980 skos:exactMatch UMLS:C1415688 Unspecified HOXD3 +OMIM:142980 skos:exactMatch HGNC:5137 Unspecified HOXD3 +OMIM:142980 skos:exactMatch HGNC_symbol:HOXD3 Unspecified HOXD3 +OMIM:605061 skos:exactMatch HGNC:19246 Unspecified TERF2IP +OMIM:605061 skos:exactMatch HGNC_symbol:TERF2IP Unspecified TERF2IP +OMIM:605061 skos:exactMatch UMLS:C1426113 Unspecified TERF2IP +OMIM:142981 skos:exactMatch HGNC_symbol:HOXD4 Unspecified HOXD4 +OMIM:142981 skos:exactMatch UMLS:C1415689 Unspecified HOXD4 +OMIM:142981 skos:exactMatch HGNC:5138 Unspecified HOXD4 +OMIM:139340 skos:exactMatch UMLS:C1415149 Unspecified GNAT2 +OMIM:139340 skos:exactMatch HGNC_symbol:GNAT2 Unspecified GNAT2 +OMIM:139340 skos:exactMatch HGNC:4394 Unspecified GNAT2 +OMIM:605066 skos:exactMatch HGNC:12851 Unspecified YWHAE +OMIM:605066 skos:exactMatch HGNC_symbol:YWHAE Unspecified YWHAE +OMIM:605066 skos:exactMatch UMLS:C1421560 Unspecified YWHAE +OMIM:142982 skos:exactMatch HGNC_symbol:HOXD9 Unspecified HOXD9 +OMIM:142982 skos:exactMatch UMLS:C1415691 Unspecified HOXD9 +OMIM:142982 skos:exactMatch HGNC:5140 Unspecified HOXD9 +OMIM:605067 skos:exactMatch UMLS:C0243002 Unspecified tricuspid atresia +OMIM:142983 skos:exactMatch HGNC_symbol:MSX1 Unspecified MSX1 +OMIM:142983 skos:exactMatch HGNC:7391 Unspecified MSX1 +OMIM:142983 skos:exactMatch UMLS:C1417387 Unspecified MSX1 +OMIM:605064 skos:exactMatch HGNC:6392 Unspecified KIF23 +OMIM:605064 skos:exactMatch UMLS:C1416697 Unspecified KIF23 +OMIM:605064 skos:exactMatch HGNC_symbol:KIF23 Unspecified KIF23 +OMIM:605065 skos:exactMatch HGNC:1735 Unspecified CDC37 +OMIM:605065 skos:exactMatch HGNC_symbol:CDC37 Unspecified CDC37 +OMIM:605065 skos:exactMatch UMLS:C1332722 Unspecified CDC37 +OMIM:142984 skos:exactMatch UMLS:C1415684 Unspecified HOXD10 +OMIM:142984 skos:exactMatch HGNC_symbol:HOXD10 Unspecified HOXD10 +OMIM:142984 skos:exactMatch HGNC:5133 Unspecified HOXD10 +OMIM:142985 skos:exactMatch HGNC_symbol:HOXD8 Unspecified HOXD8 +OMIM:142985 skos:exactMatch UMLS:C1415690 Unspecified HOXD8 +OMIM:142985 skos:exactMatch HGNC:5139 Unspecified HOXD8 +OMIM:142986 skos:exactMatch UMLS:C1840501 Unspecified HOXD11 +OMIM:142986 skos:exactMatch UMLS:C1415685 Unspecified HOXD11 +OMIM:142986 skos:exactMatch HGNC_symbol:HOXD11 Unspecified HOXD11 +OMIM:142986 skos:exactMatch HGNC:5134 Unspecified HOXD11 +OMIM:605068 skos:exactMatch HGNC_symbol:WASF3 Unspecified WASF3 +OMIM:605068 skos:exactMatch HGNC:12734 Unspecified WASF3 +OMIM:605068 skos:exactMatch UMLS:C1421481 Unspecified WASF3 +OMIM:142987 skos:exactMatch HGNC_symbol:HOXD1 Unspecified HOXD1 +OMIM:142987 skos:exactMatch UMLS:C1415683 Unspecified HOXD1 +OMIM:142987 skos:exactMatch HGNC:5132 Unspecified HOXD1 +OMIM:605069 skos:exactMatch HGNC:7111 Unspecified MKNK2 +OMIM:605069 skos:exactMatch HGNC_symbol:MKNK2 Unspecified MKNK2 +OMIM:605069 skos:exactMatch UMLS:C1417176 Unspecified MKNK2 +OMIM:142988 skos:exactMatch UMLS:C1415686 Unspecified HOXD12 +OMIM:142988 skos:exactMatch HGNC:5135 Unspecified HOXD12 +OMIM:142988 skos:exactMatch HGNC_symbol:HOXD12 Unspecified HOXD12 +OMIM:164300 skos:exactMatch UMLS:C0270952 Unspecified oculopharyngeal muscular dystrophy +OMIM:211180 skos:exactMatch UMLS:C1859405 Unspecified bowen-conradi syndrome +OMIM:617031 skos:exactMatch HGNC_symbol:PRPF38A Unspecified PRPF38A +OMIM:617031 skos:exactMatch HGNC:25930 Unspecified PRPF38A +OMIM:617031 skos:exactMatch UMLS:C1826707 Unspecified PRPF38A +OMIM:617030 skos:exactMatch UMLS:C4310754 Unspecified myopathy, distal, 5 +OMIM:617030 skos:exactMatch ORPHA:482601 Unspecified myopathy, distal, 5 +OMIM:617033 skos:exactMatch HGNC:37073 Unspecified CASTOR2 +OMIM:617033 skos:exactMatch UMLS:C2681542 Unspecified CASTOR2 +OMIM:617033 skos:exactMatch HGNC_symbol:CASTOR2 Unspecified CASTOR2 +OMIM:617032 skos:exactMatch HGNC:26210 Unspecified PGGHG +OMIM:617032 skos:exactMatch UMLS:C1825504 Unspecified PGGHG +OMIM:617032 skos:exactMatch HGNC_symbol:PGGHG Unspecified PGGHG +OMIM:617035 skos:exactMatch UMLS:C4284595 Unspecified patent ductus arteriosus 2 +OMIM:617034 skos:exactMatch UMLS:C2681543 Unspecified CASTOR1 +OMIM:617034 skos:exactMatch HGNC_symbol:CASTOR1 Unspecified CASTOR1 +OMIM:617034 skos:exactMatch HGNC:34423 Unspecified CASTOR1 +OMIM:617037 skos:exactMatch UMLS:C3540293 Unspecified NORAD +OMIM:617037 skos:exactMatch HGNC:44311 Unspecified NORAD +OMIM:617037 skos:exactMatch HGNC_symbol:NORAD Unspecified NORAD +OMIM:617036 skos:exactMatch HGNC:16066 Unspecified ACER3 +OMIM:617036 skos:exactMatch UMLS:C1423950 Unspecified ACER3 +OMIM:617036 skos:exactMatch HGNC_symbol:ACER3 Unspecified ACER3 +OMIM:617039 skos:exactMatch UMLS:C4310753 Unspecified patent ductus arteriosus 3 +OMIM:617038 skos:exactMatch HGNC:50608 Unspecified LINC01370 +OMIM:617038 skos:exactMatch HGNC_symbol:LINC01370 Unspecified LINC01370 +OMIM:617038 skos:exactMatch UMLS:C3891770 Unspecified LINC01370 +OMIM:617029 skos:exactMatch UMLS:C1419948 Unspecified SEMA4B +OMIM:617029 skos:exactMatch HGNC:10730 Unspecified SEMA4B +OMIM:617029 skos:exactMatch HGNC_symbol:SEMA4B Unspecified SEMA4B +OMIM:605051 skos:exactMatch UMLS:C1413555 Unspecified CNR2 +OMIM:605051 skos:exactMatch HGNC_symbol:CNR2 Unspecified CNR2 +OMIM:605051 skos:exactMatch HGNC:2160 Unspecified CNR2 +OMIM:605052 skos:exactMatch HGNC_symbol:TARBP1 Unspecified TARBP1 +OMIM:605052 skos:exactMatch HGNC:11568 Unspecified TARBP1 +OMIM:605052 skos:exactMatch UMLS:C1420585 Unspecified TARBP1 +OMIM:152310 skos:exactMatch UMLS:C1420705 Unspecified TFPI +OMIM:152310 skos:exactMatch HGNC_symbol:TFPI Unspecified TFPI +OMIM:152310 skos:exactMatch HGNC:11760 Unspecified TFPI +OMIM:142991 skos:exactMatch UMLS:C1414486 Unspecified EVX2 +OMIM:142991 skos:exactMatch HGNC_symbol:EVX2 Unspecified EVX2 +OMIM:142991 skos:exactMatch HGNC:3507 Unspecified EVX2 +OMIM:142992 skos:exactMatch HGNC:5017 Unspecified HMX1 +OMIM:142992 skos:exactMatch HGNC_symbol:HMX1 Unspecified HMX1 +OMIM:142992 skos:exactMatch UMLS:C1415622 Unspecified HMX1 +OMIM:605055 skos:exactMatch UMLS:C1857933 Unspecified alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology +OMIM:139350 skos:exactMatch UMLS:C1416713 Unspecified KRT1 +OMIM:139350 skos:exactMatch HGNC:6412 Unspecified KRT1 +OMIM:139350 skos:exactMatch HGNC_symbol:KRT1 Unspecified KRT1 +OMIM:605056 skos:exactMatch HGNC_symbol:WASL Unspecified WASL +OMIM:605056 skos:exactMatch HGNC:12735 Unspecified WASL +OMIM:605056 skos:exactMatch UMLS:C1421482 Unspecified WASL +OMIM:142993 skos:exactMatch HGNC:1975 Unspecified VSX2 +OMIM:142993 skos:exactMatch HGNC_symbol:VSX2 Unspecified VSX2 +OMIM:142993 skos:exactMatch UMLS:C1413420 Unspecified VSX2 +OMIM:605053 skos:exactMatch HGNC_symbol:TARBP2 Unspecified TARBP2 +OMIM:605053 skos:exactMatch HGNC:11569 Unspecified TARBP2 +OMIM:605053 skos:exactMatch UMLS:C1420586 Unspecified TARBP2 +OMIM:142994 skos:exactMatch UMLS:C1415596 Unspecified MNX1 +OMIM:142994 skos:exactMatch HGNC_symbol:MNX1 Unspecified MNX1 +OMIM:142994 skos:exactMatch HGNC:4979 Unspecified MNX1 +OMIM:142995 skos:exactMatch UMLS:C1415595 Unspecified HLX +OMIM:142995 skos:exactMatch HGNC_symbol:HLX Unspecified HLX +OMIM:142995 skos:exactMatch HGNC:4978 Unspecified HLX +OMIM:605054 skos:exactMatch HGNC_symbol:SERF2 Unspecified SERF2 +OMIM:605054 skos:exactMatch UMLS:C1419973 Unspecified SERF2 +OMIM:605054 skos:exactMatch HGNC:10757 Unspecified SERF2 +OMIM:142996 skos:exactMatch UMLS:C1414485 Unspecified EVX1 +OMIM:142996 skos:exactMatch HGNC_symbol:EVX1 Unspecified EVX1 +OMIM:142996 skos:exactMatch HGNC:3506 Unspecified EVX1 +OMIM:605057 skos:exactMatch HGNC_symbol:TIMM17A Unspecified TIMM17A +OMIM:605057 skos:exactMatch UMLS:C1424895 Unspecified TIMM17A +OMIM:605057 skos:exactMatch HGNC:17315 Unspecified TIMM17A +OMIM:605058 skos:exactMatch HGNC:17316 Unspecified TIMM44 +OMIM:605058 skos:exactMatch HGNC_symbol:TIMM44 Unspecified TIMM44 +OMIM:605058 skos:exactMatch UMLS:C1424896 Unspecified TIMM44 +OMIM:605039 skos:exactMatch ORPHA:97297 Unspecified bohring-opitz syndrome +OMIM:605039 skos:exactMatch UMLS:C0796232 Unspecified bohring-opitz syndrome +OMIM:619682 skos:exactMatch HGNC:24090 Unspecified ATRAID +OMIM:619682 skos:exactMatch HGNC_symbol:ATRAID Unspecified ATRAID +OMIM:247100 skos:exactMatch UMLS:C0023795 Unspecified lipoid proteinosis of urbach and wiethe +OMIM:166950 skos:exactMatch UMLS:C0280131 Unspecified teratoma, ovarian +OMIM:617020 skos:exactMatch UMLS:C4310762 Unspecified developmental and epileptic encephalopathy 38 +OMIM:617020 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 38 +OMIM:617022 skos:exactMatch UMLS:C4310760 Unspecified lethal congenital contracture syndrome 10 +OMIM:617022 skos:exactMatch ORPHA:464366 Unspecified lethal congenital contracture syndrome 10 +OMIM:617021 skos:exactMatch UMLS:C4310761 Unspecified hydrops, lactic acidosis, and sideroblastic anemia +OMIM:619683 skos:exactMatch HGNC_symbol:BSPRY Unspecified BSPRY +OMIM:619683 skos:exactMatch HGNC:18232 Unspecified BSPRY +OMIM:617024 skos:exactMatch UMLS:C4310758 Unspecified night blindness, congenital stationary, iia 1h +OMIM:619684 skos:exactMatch HGNC:29969 Unspecified MGARP +OMIM:619684 skos:exactMatch HGNC_symbol:MGARP Unspecified MGARP +OMIM:617023 skos:exactMatch UMLS:C4310759 Unspecified retinitis pigmentosa 75 +OMIM:617026 skos:exactMatch UMLS:C4310757 Unspecified pontocerebellar hypoplasia, iia 2f +OMIM:617025 skos:exactMatch UMLS:C0265987 Unspecified nevus comedonicus +OMIM:617025 skos:exactMatch ORPHA:64754 Unspecified nevus comedonicus +OMIM:617028 skos:exactMatch UMLS:C4310755 Unspecified intellectual developmental disorder, autosomal recessive 54 +OMIM:617027 skos:exactMatch UMLS:C4310756 Unspecified hyperaldosteronism, familial, iia 4 +OMIM:617019 skos:exactMatch HGNC:15876 Unspecified TMEM230 +OMIM:617019 skos:exactMatch HGNC_symbol:TMEM230 Unspecified TMEM230 +OMIM:617019 skos:exactMatch UMLS:C3470097 Unspecified TMEM230 +OMIM:617018 skos:exactMatch UMLS:C4310763 Unspecified spinocerebellar ataxia 43 +OMIM:605040 skos:exactMatch UMLS:C1857942 Unspecified clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia +OMIM:605041 skos:exactMatch UMLS:C1857941 Unspecified brooke-spiegler syndrome +OMIM:605044 skos:exactMatch HGNC:2377 Unspecified MED27 +OMIM:605044 skos:exactMatch HGNC_symbol:MED27 Unspecified MED27 +OMIM:605044 skos:exactMatch UMLS:C1332786 Unspecified MED27 +OMIM:605045 skos:exactMatch HGNC_symbol:MED7 Unspecified MED7 +OMIM:605045 skos:exactMatch HGNC:2378 Unspecified MED7 +OMIM:605045 skos:exactMatch UMLS:C1332787 Unspecified MED7 +OMIM:605042 skos:exactMatch HGNC_symbol:MED23 Unspecified MED23 +OMIM:605042 skos:exactMatch UMLS:C1332782 Unspecified MED23 +OMIM:605042 skos:exactMatch HGNC:2372 Unspecified MED23 +OMIM:605043 skos:exactMatch HGNC:2376 Unspecified MED26 +OMIM:605043 skos:exactMatch HGNC_symbol:MED26 Unspecified MED26 +OMIM:605043 skos:exactMatch UMLS:C1332785 Unspecified MED26 +OMIM:605048 skos:exactMatch HGNC_symbol:IKBKE Unspecified IKBKE +OMIM:605048 skos:exactMatch HGNC:14552 Unspecified IKBKE +OMIM:605048 skos:exactMatch UMLS:C1422750 Unspecified IKBKE +OMIM:274700 skos:exactMatch UMLS:C0342194 Unspecified thyroid dyshormonogenesis 3 +OMIM:605049 skos:exactMatch HGNC_symbol:TWSG1 Unspecified TWSG1 +OMIM:605049 skos:exactMatch HGNC:12429 Unspecified TWSG1 +OMIM:605049 skos:exactMatch UMLS:C1421245 Unspecified TWSG1 +OMIM:605046 skos:exactMatch HGNC:12508 Unspecified UBQLN1 +OMIM:605046 skos:exactMatch HGNC_symbol:UBQLN1 Unspecified UBQLN1 +OMIM:605046 skos:exactMatch UMLS:C1421304 Unspecified UBQLN1 +OMIM:139360 skos:exactMatch UMLS:C1366857 Unspecified GNAI2 +OMIM:139360 skos:exactMatch HGNC_symbol:GNAI2 Unspecified GNAI2 +OMIM:139360 skos:exactMatch HGNC:4385 Unspecified GNAI2 +OMIM:605047 skos:exactMatch UMLS:C1416475 Unspecified IRF7 +OMIM:605047 skos:exactMatch HGNC:6122 Unspecified IRF7 +OMIM:605047 skos:exactMatch HGNC_symbol:IRF7 Unspecified IRF7 +OMIM:617091 skos:exactMatch UMLS:C4310722 Unspecified ciliary dyskinesia, primary, 34 +OMIM:617090 skos:exactMatch UMLS:C4310723 Unspecified microcephaly 17, primary, autosomal recessive +OMIM:617090 skos:exactMatch ORPHA:2512 Unspecified microcephaly 17, primary, autosomal recessive +OMIM:617093 skos:exactMatch UMLS:C4310720 Unspecified growth retardation, impaired intellectual development, hypotonia, and hepatopathy +OMIM:617092 skos:exactMatch UMLS:C4310721 Unspecified ciliary dyskinesia, primary, 35 +OMIM:617095 skos:exactMatch HGNC_symbol:ODAD4 Unspecified TTC25 +OMIM:617095 skos:exactMatch UMLS:C1823529 Unspecified TTC25 +OMIM:617095 skos:exactMatch HGNC:25280 Unspecified TTC25 +OMIM:617094 skos:exactMatch UMLS:C1825567 Unspecified IFT52 +OMIM:617094 skos:exactMatch UMLS:C2986382 Unspecified IFT52 +OMIM:617094 skos:exactMatch HGNC_symbol:IFT52 Unspecified IFT52 +OMIM:617094 skos:exactMatch HGNC:15901 Unspecified IFT52 +OMIM:617094 skos:exactMatch UMLS:C4310847 Unspecified IFT52 +OMIM:617094 skos:exactMatch UMLS:C4310846 Unspecified IFT52 +OMIM:617097 skos:exactMatch UMLS:C1710492 Unspecified LINC01194 +OMIM:617097 skos:exactMatch HGNC_symbol:LINC01194 Unspecified LINC01194 +OMIM:617097 skos:exactMatch HGNC:37171 Unspecified LINC01194 +OMIM:617096 skos:exactMatch UMLS:C1421896 Unspecified TMEM59L +OMIM:617096 skos:exactMatch HGNC:13237 Unspecified TMEM59L +OMIM:617096 skos:exactMatch HGNC_symbol:TMEM59L Unspecified TMEM59L +OMIM:617099 skos:exactMatch UMLS:C4310614 Unspecified autoinflammation, panniculitis, and dermatosis syndrome +OMIM:140350 skos:exactMatch ORPHA:2118 Unspecified hawkinsinuria +OMIM:140350 skos:exactMatch UMLS:C2931042 Unspecified hawkinsinuria +OMIM:617098 skos:exactMatch UMLS:C2239892 Unspecified RNASEK +OMIM:617098 skos:exactMatch HGNC:33911 Unspecified RNASEK +OMIM:617098 skos:exactMatch HGNC_symbol:RNASEK Unspecified RNASEK +OMIM:223100 skos:exactMatch UMLS:C0268181 Unspecified lactose intolerance, adult iia +OMIM:223100 skos:exactMatch UMLS:C1857231 Unspecified lactose intolerance, adult iia +OMIM:164320 skos:exactMatch HGNC_symbol:OBP2A Unspecified OBP2A +OMIM:164320 skos:exactMatch HGNC:23380 Unspecified OBP2A +OMIM:164320 skos:exactMatch UMLS:C1428059 Unspecified OBP2A +OMIM:262710 skos:exactMatch UMLS:C0271575 Unspecified pituitary dwarfism with large sella turcica +OMIM:176305 skos:exactMatch ORPHA:2957 Unspecified preaxial deficiency, postaxial polydactyly, and hypospadias +OMIM:176305 skos:exactMatch UMLS:C1867801 Unspecified preaxial deficiency, postaxial polydactyly, and hypospadias +OMIM:176300 skos:exactMatch HGNC:12405 Unspecified TTR +OMIM:176300 skos:exactMatch HGNC_symbol:TTR Unspecified TTR +OMIM:176300 skos:exactMatch UMLS:C1421224 Unspecified TTR +OMIM:139370 skos:exactMatch HGNC_symbol:GNAI3 Unspecified GNAI3 +OMIM:139370 skos:exactMatch HGNC:4387 Unspecified GNAI3 +OMIM:139370 skos:exactMatch UMLS:C1415144 Unspecified GNAI3 +OMIM:617080 skos:exactMatch ORPHA:306 Unspecified seizures, benign familial infantile, 5 +OMIM:617080 skos:exactMatch UMLS:C4310728 Unspecified seizures, benign familial infantile, 5 +OMIM:617082 skos:exactMatch UMLS:C4310727 Unspecified congenital disorder of glycosylation, iia iaa +OMIM:617081 skos:exactMatch UMLS:C1538537 Unspecified OMA1 +OMIM:617081 skos:exactMatch HGNC_symbol:OMA1 Unspecified OMA1 +OMIM:617081 skos:exactMatch HGNC:29661 Unspecified OMA1 +OMIM:617084 skos:exactMatch HGNC:1239 Unspecified TMEM59 +OMIM:617084 skos:exactMatch UMLS:C1823321 Unspecified TMEM59 +OMIM:617084 skos:exactMatch HGNC_symbol:TMEM59 Unspecified TMEM59 +OMIM:617083 skos:exactMatch HGNC:24595 Unspecified DYNC2LI1 +OMIM:617083 skos:exactMatch UMLS:C1825011 Unspecified DYNC2LI1 +OMIM:617083 skos:exactMatch HGNC_symbol:DYNC2LI1 Unspecified DYNC2LI1 +OMIM:164310 skos:exactMatch UMLS:C1834014 Unspecified oculopharyngodistal myopathy 1 +OMIM:164310 skos:exactMatch UMLS:C5231388 Unspecified oculopharyngodistal myopathy 1 +OMIM:164310 skos:exactMatch ORPHA:98897 Unspecified oculopharyngodistal myopathy 1 +OMIM:617086 skos:exactMatch UMLS:C4310726 Unspecified encephalopathy due to defective mitochondrial and peroxisomal fission 2 +OMIM:191950 skos:exactMatch UMLS:C1860551 Unspecified urticaria, familial localized heat +OMIM:617085 skos:exactMatch HGNC_symbol:FIBIN Unspecified FIBIN +OMIM:617085 skos:exactMatch HGNC:33747 Unspecified FIBIN +OMIM:617085 skos:exactMatch UMLS:C2681529 Unspecified FIBIN +OMIM:225750 skos:exactMatch UMLS:C0796126 Unspecified aicardi-goutieres syndrome 1 +OMIM:225750 skos:exactMatch UMLS:C3150315 Unspecified aicardi-goutieres syndrome 1 +OMIM:617088 skos:exactMatch UMLS:C4310724 Unspecified short-rib thoracic dysplasia 15 with polydactyly +OMIM:166970 skos:exactMatch UMLS:C0149951 Unspecified ovarian fibromata +OMIM:617087 skos:exactMatch UMLS:C4310725 Unspecified charcot-marie-tooth disease, axonal, autosomal recessive, iia 2a2b +OMIM:617089 skos:exactMatch UMLS:C5394289 Unspecified NEPRO +OMIM:617089 skos:exactMatch HGNC:24496 Unspecified NEPRO +OMIM:617089 skos:exactMatch HGNC_symbol:NEPRO Unspecified NEPRO +OMIM:617089 skos:exactMatch UMLS:C1540228 Unspecified NEPRO +OMIM:188300 skos:exactMatch HGNC_symbol:TK1 Unspecified TK1 +OMIM:188300 skos:exactMatch HGNC:11830 Unspecified TK1 +OMIM:188300 skos:exactMatch UMLS:C1420747 Unspecified TK1 +OMIM:225755 skos:exactMatch UMLS:C1856973 Unspecified encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration +OMIM:225753 skos:exactMatch UMLS:C1856974 Unspecified pontocerebellar hypoplasia, iia 4 +OMIM:262700 skos:exactMatch UMLS:C2678408 Unspecified pituitary hormone deficiency, combined, 4 +OMIM:211120 skos:exactMatch UMLS:C1859407 Unspecified bone dysplasia, lethal, holmgren iia +OMIM:139380 skos:exactMatch UMLS:C4310774 Unspecified GNB1 +OMIM:139380 skos:exactMatch UMLS:C1333687 Unspecified GNB1 +OMIM:139380 skos:exactMatch UMLS:C4310990 Unspecified GNB1 +OMIM:139380 skos:exactMatch UMLS:C4016619 Unspecified GNB1 +OMIM:139380 skos:exactMatch HGNC:4396 Unspecified GNB1 +OMIM:139380 skos:exactMatch UMLS:C2751104 Unspecified GNB1 +OMIM:139380 skos:exactMatch HGNC_symbol:GNB1 Unspecified GNB1 +OMIM:617071 skos:exactMatch UMLS:C4310732 Unspecified None +OMIM:617070 skos:exactMatch UMLS:C4310733 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 +OMIM:617073 skos:exactMatch UMLS:C4310730 Unspecified tooth agenesis, selective, 8 +OMIM:164343 skos:exactMatch UMLS:C1825022 Unspecified EBF1 +OMIM:164343 skos:exactMatch HGNC:3126 Unspecified EBF1 +OMIM:164343 skos:exactMatch HGNC_symbol:EBF1 Unspecified EBF1 +OMIM:617072 skos:exactMatch UMLS:C4310731 Unspecified myopathy, autosomal recessive, with rigid spine and distal joint contractures +OMIM:617075 skos:exactMatch UMLS:C4310729 Unspecified nasopharyngeal carcinoma, susceptibility to, 3 +OMIM:164345 skos:exactMatch HGNC_symbol:OMG Unspecified OMG +OMIM:164345 skos:exactMatch UMLS:C1417949 Unspecified OMG +OMIM:164345 skos:exactMatch HGNC:8135 Unspecified OMG +OMIM:617074 skos:exactMatch HGNC_symbol:SMCR8 Unspecified SMCR8 +OMIM:617074 skos:exactMatch HGNC:17921 Unspecified SMCR8 +OMIM:617074 skos:exactMatch UMLS:C1425178 Unspecified SMCR8 +OMIM:617077 skos:exactMatch UMLS:C1538197 Unspecified ZNF618 +OMIM:617077 skos:exactMatch HGNC_symbol:ZNF618 Unspecified ZNF618 +OMIM:617077 skos:exactMatch HGNC:29416 Unspecified ZNF618 +OMIM:164340 skos:exactMatch UMLS:C1417950 Unspecified OMP +OMIM:164340 skos:exactMatch HGNC:8136 Unspecified OMP +OMIM:164340 skos:exactMatch HGNC_symbol:OMP Unspecified OMP +OMIM:617076 skos:exactMatch HGNC:13949 Unspecified FKBPL +OMIM:617076 skos:exactMatch UMLS:C1422296 Unspecified FKBPL +OMIM:617076 skos:exactMatch HGNC_symbol:FKBPL Unspecified FKBPL +OMIM:164342 skos:exactMatch HGNC_symbol:OR1D2 Unspecified OR1D2 +OMIM:164342 skos:exactMatch UMLS:C1417988 Unspecified OR1D2 +OMIM:164342 skos:exactMatch HGNC:8183 Unspecified OR1D2 +OMIM:617079 skos:exactMatch HGNC_symbol:LINC00673 Unspecified LINC00673 +OMIM:617079 skos:exactMatch UMLS:C3540280 Unspecified LINC00673 +OMIM:617079 skos:exactMatch HGNC:44354 Unspecified LINC00673 +OMIM:617078 skos:exactMatch HGNC_symbol:DEDD2 Unspecified DEDD2 +OMIM:617078 skos:exactMatch HGNC:24450 Unspecified DEDD2 +OMIM:617078 skos:exactMatch UMLS:C1428374 Unspecified DEDD2 +OMIM:249710 skos:exactMatch UMLS:C1855273 Unspecified mesomelic limb shortening and bowing +OMIM:605091 skos:exactMatch HGNC_symbol:FGD2 Unspecified FGD2 +OMIM:605091 skos:exactMatch HGNC:3664 Unspecified FGD2 +OMIM:605091 skos:exactMatch UMLS:C1414595 Unspecified FGD2 +OMIM:605092 skos:exactMatch HGNC:9869 Unspecified PLAAT4 +OMIM:605092 skos:exactMatch HGNC_symbol:PLAAT4 Unspecified PLAAT4 +OMIM:605092 skos:exactMatch UMLS:C1419275 Unspecified PLAAT4 +OMIM:605090 skos:exactMatch HGNC:9867 Unspecified RARRES1 +OMIM:605090 skos:exactMatch UMLS:C1419273 Unspecified RARRES1 +OMIM:605090 skos:exactMatch HGNC_symbol:RARRES1 Unspecified RARRES1 +OMIM:225790 skos:exactMatch UMLS:C1856972 Unspecified proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome +OMIM:225790 skos:exactMatch ORPHA:221126 Unspecified proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome +OMIM:225790 skos:exactMatch UMLS:C3203738 Unspecified proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome +OMIM:605096 skos:exactMatch HGNC_symbol:ANO7 Unspecified ANO7 +OMIM:605096 skos:exactMatch UMLS:C1539993 Unspecified ANO7 +OMIM:605096 skos:exactMatch HGNC:31677 Unspecified ANO7 +OMIM:605093 skos:exactMatch UMLS:C2675103 Unspecified SH2B3 +OMIM:605093 skos:exactMatch HGNC:29605 Unspecified SH2B3 +OMIM:605093 skos:exactMatch HGNC_symbol:SH2B3 Unspecified SH2B3 +OMIM:605093 skos:exactMatch UMLS:C3276960 Unspecified SH2B3 +OMIM:605093 skos:exactMatch UMLS:C1822705 Unspecified SH2B3 +OMIM:605093 skos:exactMatch UMLS:C3805370 Unspecified SH2B3 +OMIM:605094 skos:exactMatch HGNC_symbol:STEAP2 Unspecified STEAP2 +OMIM:605094 skos:exactMatch HGNC:17885 Unspecified STEAP2 +OMIM:605094 skos:exactMatch UMLS:C1425155 Unspecified STEAP2 +OMIM:139395 skos:exactMatch UMLS:C1427774 Unspecified GNAT3 +OMIM:139395 skos:exactMatch HGNC_symbol:GNAT3 Unspecified GNAT3 +OMIM:139395 skos:exactMatch HGNC:22800 Unspecified GNAT3 +OMIM:139397 skos:exactMatch HGNC_symbol:GUCY1B1 Unspecified GUCY1B3 +OMIM:139397 skos:exactMatch HGNC:4687 Unspecified GUCY1B3 +OMIM:139397 skos:exactMatch UMLS:C1415362 Unspecified GUCY1B3 +OMIM:605097 skos:exactMatch HGNC_symbol:SLC45A3 Unspecified SLC45A3 +OMIM:605097 skos:exactMatch UMLS:C1822765 Unspecified SLC45A3 +OMIM:605097 skos:exactMatch HGNC:8642 Unspecified SLC45A3 +OMIM:139396 skos:exactMatch HGNC_symbol:GUCY1A1 Unspecified GUCY1A3 +OMIM:139396 skos:exactMatch HGNC:4685 Unspecified GUCY1A3 +OMIM:139396 skos:exactMatch UMLS:C1415360 Unspecified GUCY1A3 +OMIM:139391 skos:exactMatch HGNC_symbol:GNGT2 Unspecified GNGT2 +OMIM:139391 skos:exactMatch HGNC:4412 Unspecified GNGT2 +OMIM:139391 skos:exactMatch UMLS:C1415162 Unspecified GNGT2 +OMIM:250700 skos:exactMatch UMLS:C0472786 Unspecified methemoglobin reductase deficiency +OMIM:139390 skos:exactMatch UMLS:C1333688 Unspecified GNB2 +OMIM:139390 skos:exactMatch HGNC:4398 Unspecified GNB2 +OMIM:139390 skos:exactMatch HGNC_symbol:GNB2 Unspecified GNB2 +OMIM:139393 skos:exactMatch UMLS:C0393819 Unspecified guillain-barre syndrome, familial +OMIM:139393 skos:exactMatch UMLS:C4551910 Unspecified guillain-barre syndrome, familial +OMIM:139393 skos:exactMatch UMLS:C4083008 Unspecified guillain-barre syndrome, familial +OMIM:139392 skos:exactMatch HGNC_symbol:GUCA2A Unspecified GUCA2A +OMIM:139392 skos:exactMatch HGNC:4682 Unspecified GUCA2A +OMIM:139392 skos:exactMatch UMLS:C1415357 Unspecified GUCA2A +OMIM:617060 skos:exactMatch HGNC_symbol:LCTL Unspecified LCTL +OMIM:617060 skos:exactMatch UMLS:C1825803 Unspecified LCTL +OMIM:617060 skos:exactMatch HGNC:15583 Unspecified LCTL +OMIM:617062 skos:exactMatch UMLS:C4310739 Unspecified okur-chung neurodevelopmental syndrome +OMIM:617061 skos:exactMatch UMLS:C4310740 Unspecified intellectual developmental disorder, autosomal dominant 44, with microcephaly +OMIM:617061 skos:exactMatch ORPHA:476126 Unspecified intellectual developmental disorder, autosomal dominant 44, with microcephaly +OMIM:617064 skos:exactMatch UMLS:C4310737 Unspecified GUF1 +OMIM:617064 skos:exactMatch HGNC:25799 Unspecified GUF1 +OMIM:617064 skos:exactMatch UMLS:C1825432 Unspecified GUF1 +OMIM:617064 skos:exactMatch HGNC_symbol:GUF1 Unspecified GUF1 +OMIM:617063 skos:exactMatch UMLS:C4310738 Unspecified meier-gorlin syndrome 7 +OMIM:617066 skos:exactMatch UMLS:C4310736 Unspecified muscular dystrophy, congenital, davignon-chauveau iia +OMIM:617065 skos:exactMatch ORPHA:3451 Unspecified developmental and epileptic encephalopathy 40 +OMIM:617065 skos:exactMatch UMLS:C4310737 Unspecified developmental and epileptic encephalopathy 40 +OMIM:166990 skos:exactMatch UMLS:C1833688 Unspecified osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension +OMIM:617068 skos:exactMatch UMLS:C4310735 Unspecified portal hypertension, noncirrhotic, 1 +OMIM:617067 skos:exactMatch UMLS:C3544050 Unspecified LYPD8 +OMIM:617067 skos:exactMatch HGNC_symbol:LYPD8 Unspecified LYPD8 +OMIM:617067 skos:exactMatch HGNC:44208 Unspecified LYPD8 +OMIM:164330 skos:exactMatch UMLS:C1834013 Unspecified odontoma-dysphagia syndrome +OMIM:617069 skos:exactMatch UMLS:C4310734 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 +OMIM:605080 skos:exactMatch UMLS:C4015968 Unspecified CNGB3 +OMIM:605080 skos:exactMatch HGNC:2153 Unspecified CNGB3 +OMIM:605080 skos:exactMatch UMLS:C1849792 Unspecified CNGB3 +OMIM:605080 skos:exactMatch HGNC_symbol:CNGB3 Unspecified CNGB3 +OMIM:605080 skos:exactMatch UMLS:C1413548 Unspecified CNGB3 +OMIM:605081 skos:exactMatch UMLS:C1418981 Unspecified CYTH3 +OMIM:605081 skos:exactMatch HGNC:9504 Unspecified CYTH3 +OMIM:605081 skos:exactMatch HGNC_symbol:CYTH3 Unspecified CYTH3 +OMIM:176311 skos:exactMatch HGNC:8633 Unspecified PBX2 +OMIM:176311 skos:exactMatch HGNC_symbol:PBX2 Unspecified PBX2 +OMIM:176311 skos:exactMatch UMLS:C1418286 Unspecified PBX2 +OMIM:605084 skos:exactMatch HGNC_symbol:MICU1 Unspecified MICU1 +OMIM:605084 skos:exactMatch HGNC:1530 Unspecified MICU1 +OMIM:605084 skos:exactMatch UMLS:C1413147 Unspecified MICU1 +OMIM:605084 skos:exactMatch UMLS:C3810285 Unspecified MICU1 +OMIM:176312 skos:exactMatch HGNC:8634 Unspecified PBX3 +OMIM:176312 skos:exactMatch HGNC_symbol:PBX3 Unspecified PBX3 +OMIM:176312 skos:exactMatch UMLS:C1335196 Unspecified PBX3 +OMIM:605085 skos:exactMatch HGNC_symbol:TREM1 Unspecified TREM1 +OMIM:605085 skos:exactMatch HGNC:17760 Unspecified TREM1 +OMIM:605085 skos:exactMatch UMLS:C1425066 Unspecified TREM1 +OMIM:605082 skos:exactMatch UMLS:C1419285 Unspecified RASSF1 +OMIM:605082 skos:exactMatch HGNC_symbol:RASSF1 Unspecified RASSF1 +OMIM:605082 skos:exactMatch HGNC:9882 Unspecified RASSF1 +OMIM:605083 skos:exactMatch HGNC:3959 Unspecified FRZB +OMIM:605083 skos:exactMatch HGNC_symbol:FRZB Unspecified FRZB +OMIM:605083 skos:exactMatch UMLS:C1414819 Unspecified FRZB +OMIM:605088 skos:exactMatch HGNC_symbol:MVP Unspecified MVP +OMIM:605088 skos:exactMatch HGNC:7531 Unspecified MVP +OMIM:605088 skos:exactMatch UMLS:C1417509 Unspecified MVP +OMIM:605089 skos:exactMatch HGNC:14491 Unspecified MRPL40 +OMIM:605089 skos:exactMatch HGNC_symbol:MRPL40 Unspecified MRPL40 +OMIM:605089 skos:exactMatch UMLS:C1422697 Unspecified MRPL40 +OMIM:605086 skos:exactMatch HGNC_symbol:TREM2 Unspecified TREM2 +OMIM:605086 skos:exactMatch HGNC:17761 Unspecified TREM2 +OMIM:605086 skos:exactMatch UMLS:C4748657 Unspecified TREM2 +OMIM:605086 skos:exactMatch UMLS:C1425067 Unspecified TREM2 +OMIM:176310 skos:exactMatch HGNC:8632 Unspecified PBX1 +OMIM:176310 skos:exactMatch HGNC_symbol:PBX1 Unspecified PBX1 +OMIM:176310 skos:exactMatch UMLS:C1418287 Unspecified PBX1 +OMIM:176310 skos:exactMatch UMLS:C1418285 Unspecified PBX1 +OMIM:176310 skos:exactMatch UMLS:C4693973 Unspecified PBX1 +OMIM:176310 skos:exactMatch UMLS:C4693972 Unspecified PBX1 +OMIM:176310 skos:exactMatch UMLS:C4693971 Unspecified PBX1 +OMIM:176310 skos:exactMatch UMLS:C4539968 Unspecified PBX1 +OMIM:176310 skos:exactMatch UMLS:C4540544 Unspecified PBX1 +OMIM:605087 skos:exactMatch HGNC:8965 Unspecified PIGK +OMIM:605087 skos:exactMatch UMLS:C5394372 Unspecified PIGK +OMIM:605087 skos:exactMatch UMLS:C5394575 Unspecified PIGK +OMIM:605087 skos:exactMatch UMLS:C5394576 Unspecified PIGK +OMIM:605087 skos:exactMatch HGNC_symbol:PIGK Unspecified PIGK +OMIM:605087 skos:exactMatch UMLS:C1418566 Unspecified PIGK +OMIM:201750 skos:exactMatch UMLS:C3150099 Unspecified antley-bixler syndrome with genital anomalies and disordered steroidogenesis +OMIM:139290 skos:exactMatch UMLS:C1841763 Unspecified guanylate kinase 3 +OMIM:164230 skos:exactMatch UMLS:C0028768 Unspecified obsessive-compulsive disorder +OMIM:249700 skos:exactMatch UMLS:C0432230 Unspecified langer mesomelic dysplasia +OMIM:249700 skos:exactMatch ORPHA:2632 Unspecified langer mesomelic dysplasia +OMIM:191845 skos:exactMatch UMLS:C1421351 Unspecified UMOD +OMIM:191845 skos:exactMatch UMLS:C1859040 Unspecified UMOD +OMIM:191845 skos:exactMatch HGNC_symbol:UMOD Unspecified UMOD +OMIM:191845 skos:exactMatch UMLS:C4551496 Unspecified UMOD +OMIM:191845 skos:exactMatch UMLS:C1835934 Unspecified UMOD +OMIM:191845 skos:exactMatch HGNC:12559 Unspecified UMOD +OMIM:191840 skos:exactMatch HGNC:9052 Unspecified PLAU +OMIM:191840 skos:exactMatch UMLS:C1335224 Unspecified PLAU +OMIM:191840 skos:exactMatch HGNC_symbol:PLAU Unspecified PLAU +OMIM:225740 skos:exactMatch UMLS:C1856990 Unspecified encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts +OMIM:176240 skos:exactMatch UMLS:C1867924 Unspecified postaxial oligodactyly, tetramelic +OMIM:188201 skos:exactMatch UMLS:C1861166 Unspecified thumbs, stiff, with brachydactyly iia a1 and developmental delay +OMIM:191850 skos:exactMatch UMLS:C0263334 Unspecified urticaria, aquagenic +OMIM:211100 skos:exactMatch HGNC_symbol:FUT1 Unspecified FUT1 +OMIM:211100 skos:exactMatch UMLS:C1414862 Unspecified FUT1 +OMIM:211100 skos:exactMatch HGNC:4012 Unspecified FUT1 +OMIM:201710 skos:exactMatch UMLS:C0342474 Unspecified lipoid congenital adrenal hyperplasia +OMIM:188250 skos:exactMatch HGNC_symbol:TK2 Unspecified TK2 +OMIM:188250 skos:exactMatch HGNC:11831 Unspecified TK2 +OMIM:188250 skos:exactMatch UMLS:C1420748 Unspecified TK2 +OMIM:164280 skos:exactMatch UMLS:C0796068 Unspecified feingold syndrome 1 +OMIM:164280 skos:exactMatch UMLS:C4551774 Unspecified feingold syndrome 1 +OMIM:176267 skos:exactMatch HGNC_symbol:KCNA5 Unspecified KCNA5 +OMIM:176267 skos:exactMatch HGNC:6224 Unspecified KCNA5 +OMIM:176267 skos:exactMatch UMLS:C1416548 Unspecified KCNA5 +OMIM:176268 skos:exactMatch UMLS:C1416550 Unspecified KCNA7 +OMIM:176268 skos:exactMatch HGNC_symbol:KCNA7 Unspecified KCNA7 +OMIM:176268 skos:exactMatch HGNC:6226 Unspecified KCNA7 +OMIM:176263 skos:exactMatch HGNC_symbol:KCNA3 Unspecified KCNA3 +OMIM:176263 skos:exactMatch HGNC:6221 Unspecified KCNA3 +OMIM:176263 skos:exactMatch UMLS:C1416546 Unspecified KCNA3 +OMIM:176264 skos:exactMatch HGNC_symbol:KCNC3 Unspecified KCNC3 +OMIM:176264 skos:exactMatch HGNC:6235 Unspecified KCNC3 +OMIM:176264 skos:exactMatch UMLS:C1416558 Unspecified KCNC3 +OMIM:176265 skos:exactMatch HGNC_symbol:KCNC4 Unspecified KCNC4 +OMIM:176265 skos:exactMatch HGNC:6236 Unspecified KCNC4 +OMIM:176265 skos:exactMatch UMLS:C1416559 Unspecified KCNC4 +OMIM:176266 skos:exactMatch HGNC_symbol:KCNA4 Unspecified KCNA4 +OMIM:176266 skos:exactMatch HGNC:6222 Unspecified KCNA4 +OMIM:176266 skos:exactMatch UMLS:C1416547 Unspecified KCNA4 +OMIM:176260 skos:exactMatch HGNC:6218 Unspecified KCNA1 +OMIM:176260 skos:exactMatch UMLS:C1416543 Unspecified KCNA1 +OMIM:176260 skos:exactMatch HGNC_symbol:KCNA1 Unspecified KCNA1 +OMIM:176261 skos:exactMatch HGNC:6240 Unspecified KCNE1 +OMIM:176261 skos:exactMatch UMLS:C1416563 Unspecified KCNE1 +OMIM:176261 skos:exactMatch HGNC_symbol:KCNE1 Unspecified KCNE1 +OMIM:176262 skos:exactMatch HGNC:6220 Unspecified KCNA2 +OMIM:176262 skos:exactMatch UMLS:C4225350 Unspecified KCNA2 +OMIM:176262 skos:exactMatch UMLS:C1416545 Unspecified KCNA2 +OMIM:176262 skos:exactMatch HGNC_symbol:KCNA2 Unspecified KCNA2 +OMIM:213700 skos:exactMatch UMLS:C0238052 Unspecified cerebrotendinous xanthomatosis +OMIM:176256 skos:exactMatch UMLS:C1416557 Unspecified KCNC2 +OMIM:176256 skos:exactMatch HGNC_symbol:KCNC2 Unspecified KCNC2 +OMIM:176256 skos:exactMatch HGNC:6234 Unspecified KCNC2 +OMIM:176257 skos:exactMatch UMLS:C1416549 Unspecified KCNA6 +OMIM:176257 skos:exactMatch HGNC_symbol:KCNA6 Unspecified KCNA6 +OMIM:176257 skos:exactMatch HGNC:6225 Unspecified KCNA6 +OMIM:176258 skos:exactMatch UMLS:C1416556 Unspecified KCNC1 +OMIM:176258 skos:exactMatch HGNC_symbol:KCNC1 Unspecified KCNC1 +OMIM:176258 skos:exactMatch HGNC:6233 Unspecified KCNC1 +OMIM:176250 skos:exactMatch UMLS:C1867923 Unspecified posterior column ataxia +OMIM:176290 skos:exactMatch UMLS:C1414069 Unspecified DLK1 +OMIM:176290 skos:exactMatch HGNC:2907 Unspecified DLK1 +OMIM:176290 skos:exactMatch HGNC_symbol:DLK1 Unspecified DLK1 +OMIM:103390 skos:exactMatch HGNC:347 Unspecified AHNAK +OMIM:103390 skos:exactMatch UMLS:C1412295 Unspecified AHNAK +OMIM:103390 skos:exactMatch HGNC_symbol:AHNAK Unspecified AHNAK +OMIM:188230 skos:exactMatch UMLS:C1420728 Unspecified THY1 +OMIM:188230 skos:exactMatch HGNC_symbol:THY1 Unspecified THY1 +OMIM:188230 skos:exactMatch HGNC:11801 Unspecified THY1 +OMIM:225700 skos:exactMatch UMLS:C1856991 Unspecified encephalomalacia, multilocular +OMIM:127350 skos:exactMatch UMLS:C1851986 Unspecified dyschondrosteosis and nephritis +OMIM:176270 skos:exactMatch UMLS:C0032897 Unspecified prader-willi syndrome +OMIM:176270 skos:exactMatch ORPHA:98754 Unspecified prader-willi syndrome +OMIM:176270 skos:exactMatch ORPHA:177907 Unspecified prader-willi syndrome +OMIM:176270 skos:exactMatch ORPHA:177910 Unspecified prader-willi syndrome +OMIM:176270 skos:exactMatch ORPHA:739 Unspecified prader-willi syndrome +OMIM:176270 skos:exactMatch UMLS:C1867858 Unspecified prader-willi syndrome +OMIM:127300 skos:exactMatch UMLS:C0152441 Unspecified leri-weill dyschondrosteosis +OMIM:127300 skos:exactMatch UMLS:C0265309 Unspecified leri-weill dyschondrosteosis +OMIM:607605 skos:exactMatch UMLS:C1426312 Unspecified GSTA5 +OMIM:607605 skos:exactMatch HGNC_symbol:GSTA5 Unspecified GSTA5 +OMIM:607605 skos:exactMatch HGNC:19662 Unspecified GSTA5 +OMIM:607604 skos:exactMatch HGNC_symbol:KCNV2 Unspecified KCNV2 +OMIM:607604 skos:exactMatch UMLS:C1426343 Unspecified KCNV2 +OMIM:607604 skos:exactMatch HGNC:19698 Unspecified KCNV2 +OMIM:607603 skos:exactMatch HGNC_symbol:KCNG4 Unspecified KCNG4 +OMIM:607603 skos:exactMatch UMLS:C1426342 Unspecified KCNG4 +OMIM:607603 skos:exactMatch HGNC:19697 Unspecified KCNG4 +OMIM:607602 skos:exactMatch UMLS:C1843463 Unspecified ichthyosis, cyclic, with epidermolytic hyperkeratosis +OMIM:607609 skos:exactMatch HGNC_symbol:PPIL4 Unspecified PPIL4 +OMIM:607609 skos:exactMatch HGNC:15702 Unspecified PPIL4 +OMIM:607609 skos:exactMatch UMLS:C1423668 Unspecified PPIL4 +OMIM:607608 skos:exactMatch UMLS:C1420259 Unspecified SMPD1 +OMIM:607608 skos:exactMatch HGNC_symbol:SMPD1 Unspecified SMPD1 +OMIM:607608 skos:exactMatch HGNC:11120 Unspecified SMPD1 +OMIM:115310 skos:exactMatch UMLS:C1861848 Unspecified paragangliomas 4 +OMIM:607607 skos:exactMatch HGNC:17359 Unspecified NUP54 +OMIM:607607 skos:exactMatch HGNC_symbol:NUP54 Unspecified NUP54 +OMIM:607607 skos:exactMatch UMLS:C1424932 Unspecified NUP54 +OMIM:607606 skos:exactMatch UMLS:C1416747 Unspecified KRT9 +OMIM:607606 skos:exactMatch HGNC:6447 Unspecified KRT9 +OMIM:607606 skos:exactMatch HGNC_symbol:KRT9 Unspecified KRT9 +OMIM:103320 skos:exactMatch UMLS:C3808739 Unspecified AGRN +OMIM:103320 skos:exactMatch UMLS:C1412285 Unspecified AGRN +OMIM:103320 skos:exactMatch HGNC_symbol:AGRN Unspecified AGRN +OMIM:103320 skos:exactMatch HGNC:329 Unspecified AGRN +OMIM:607612 skos:exactMatch HGNC:16497 Unspecified PLSCR4 +OMIM:607612 skos:exactMatch HGNC_symbol:PLSCR4 Unspecified PLSCR4 +OMIM:607612 skos:exactMatch UMLS:C1424329 Unspecified PLSCR4 +OMIM:607611 skos:exactMatch HGNC:16495 Unspecified PLSCR3 +OMIM:607611 skos:exactMatch HGNC_symbol:PLSCR3 Unspecified PLSCR3 +OMIM:607611 skos:exactMatch UMLS:C1424327 Unspecified PLSCR3 +OMIM:607610 skos:exactMatch HGNC:16494 Unspecified PLSCR2 +OMIM:607610 skos:exactMatch HGNC_symbol:PLSCR2 Unspecified PLSCR2 +OMIM:607610 skos:exactMatch UMLS:C1424326 Unspecified PLSCR2 +OMIM:115300 skos:exactMatch UMLS:C2676023 Unspecified hypercarotenemia and vitamin a deficiency, autosomal dominant +OMIM:115300 skos:exactMatch ORPHA:199285 Unspecified hypercarotenemia and vitamin a deficiency, autosomal dominant +OMIM:607601 skos:exactMatch UMLS:C1843476 Unspecified TICAM1 +OMIM:607601 skos:exactMatch HGNC_symbol:TICAM1 Unspecified TICAM1 +OMIM:607601 skos:exactMatch HGNC:18348 Unspecified TICAM1 +OMIM:607600 skos:exactMatch UMLS:C1843477 Unspecified epidermolysis bullosa simplex superficialis +OMIM:103300 skos:exactMatch UMLS:C0595985 Unspecified hypoglossia-hypodactylia +OMIM:103300 skos:exactMatch UMLS:C1863203 Unspecified hypoglossia-hypodactylia +OMIM:130900 skos:exactMatch UMLS:C0399376 Unspecified amelogenesis imperfecta, iia 3a +OMIM:605107 skos:exactMatch UMLS:C1414252 Unspecified EDF1 +OMIM:605107 skos:exactMatch HGNC:3164 Unspecified EDF1 +OMIM:605107 skos:exactMatch HGNC_symbol:EDF1 Unspecified EDF1 +OMIM:607769 skos:exactMatch HGNC:14339 Unspecified PLEKHA4 +OMIM:607769 skos:exactMatch HGNC_symbol:PLEKHA4 Unspecified PLEKHA4 +OMIM:607769 skos:exactMatch UMLS:C1422576 Unspecified PLEKHA4 +OMIM:605108 skos:exactMatch HGNC:16454 Unspecified NMUR2 +OMIM:605108 skos:exactMatch UMLS:C1424293 Unspecified NMUR2 +OMIM:605108 skos:exactMatch HGNC_symbol:NMUR2 Unspecified NMUR2 +OMIM:605105 skos:exactMatch UMLS:C1854633 Unspecified early response to neural induction gene +OMIM:607768 skos:exactMatch UMLS:C1427882 Unspecified SESN3 +OMIM:607768 skos:exactMatch HGNC_symbol:SESN3 Unspecified SESN3 +OMIM:607768 skos:exactMatch HGNC:23060 Unspecified SESN3 +OMIM:605106 skos:exactMatch HGNC:14298 Unspecified LPAR3 +OMIM:605106 skos:exactMatch HGNC_symbol:LPAR3 Unspecified LPAR3 +OMIM:605106 skos:exactMatch UMLS:C1422553 Unspecified LPAR3 +OMIM:607767 skos:exactMatch HGNC:20746 Unspecified SESN2 +OMIM:607767 skos:exactMatch HGNC_symbol:SESN2 Unspecified SESN2 +OMIM:607767 skos:exactMatch UMLS:C1427105 Unspecified SESN2 +OMIM:605109 skos:exactMatch UMLS:C1415511 Unspecified HERC1 +OMIM:605109 skos:exactMatch HGNC_symbol:HERC1 Unspecified HERC1 +OMIM:605109 skos:exactMatch HGNC:4867 Unspecified HERC1 +OMIM:619756 skos:exactMatch HGNC_symbol:UBE2J2 Unspecified UBE2J2 +OMIM:619756 skos:exactMatch HGNC:19268 Unspecified UBE2J2 +OMIM:619753 skos:exactMatch HGNC:30258 Unspecified PYM1 +OMIM:619753 skos:exactMatch HGNC_symbol:PYM1 Unspecified PYM1 +OMIM:619754 skos:exactMatch HGNC:26825 Unspecified YIPF7 +OMIM:619754 skos:exactMatch HGNC_symbol:YIPF7 Unspecified YIPF7 +OMIM:619748 skos:exactMatch HGNC_symbol:LRRN3 Unspecified LRRN3 +OMIM:619748 skos:exactMatch HGNC:17200 Unspecified LRRN3 +OMIM:619749 skos:exactMatch HGNC:18258 Unspecified VEZT +OMIM:619749 skos:exactMatch HGNC_symbol:VEZT Unspecified VEZT +OMIM:619746 skos:exactMatch HGNC:29913 Unspecified ZC3HC1 +OMIM:619746 skos:exactMatch HGNC_symbol:ZC3HC1 Unspecified ZC3HC1 +OMIM:605110 skos:exactMatch HGNC_symbol:LPAR2 Unspecified LPAR2 +OMIM:605110 skos:exactMatch HGNC:3168 Unspecified LPAR2 +OMIM:605110 skos:exactMatch UMLS:C1414256 Unspecified LPAR2 +OMIM:607773 skos:exactMatch HGNC_symbol:PLEKHA2 Unspecified PLEKHA2 +OMIM:607773 skos:exactMatch UMLS:C1422574 Unspecified PLEKHA2 +OMIM:607773 skos:exactMatch HGNC:14336 Unspecified PLEKHA2 +OMIM:605111 skos:exactMatch HGNC:3169 Unspecified S1PR2 +OMIM:605111 skos:exactMatch HGNC_symbol:S1PR2 Unspecified S1PR2 +OMIM:605111 skos:exactMatch UMLS:C1414257 Unspecified S1PR2 +OMIM:607772 skos:exactMatch HGNC_symbol:PLEKHA1 Unspecified PLEKHA1 +OMIM:607772 skos:exactMatch UMLS:C1422573 Unspecified PLEKHA1 +OMIM:607772 skos:exactMatch HGNC:14335 Unspecified PLEKHA1 +OMIM:607771 skos:exactMatch HGNC_symbol:PLEKHA6 Unspecified PLEKHA6 +OMIM:607771 skos:exactMatch UMLS:C1538669 Unspecified PLEKHA6 +OMIM:607771 skos:exactMatch HGNC:17053 Unspecified PLEKHA6 +OMIM:607770 skos:exactMatch HGNC_symbol:PLEKHA5 Unspecified PLEKHA5 +OMIM:607770 skos:exactMatch UMLS:C1538668 Unspecified PLEKHA5 +OMIM:607770 skos:exactMatch HGNC:30036 Unspecified PLEKHA5 +OMIM:607777 skos:exactMatch HGNC:19354 Unspecified SIN3B +OMIM:607777 skos:exactMatch HGNC_symbol:SIN3B Unspecified SIN3B +OMIM:607777 skos:exactMatch UMLS:C1426186 Unspecified SIN3B +OMIM:605114 skos:exactMatch UMLS:C1335860 Unspecified SPO11 +OMIM:605114 skos:exactMatch HGNC:11250 Unspecified SPO11 +OMIM:605114 skos:exactMatch HGNC_symbol:SPO11 Unspecified SPO11 +OMIM:607776 skos:exactMatch HGNC:19353 Unspecified SIN3A +OMIM:607776 skos:exactMatch HGNC_symbol:SIN3A Unspecified SIN3A +OMIM:607776 skos:exactMatch UMLS:C1426185 Unspecified SIN3A +OMIM:605115 skos:exactMatch UMLS:C1854631 Unspecified hypertension, early-onset, autosomal dominant, with severe exacerbation 1n pregnancy +OMIM:607775 skos:exactMatch HGNC:6244 Unspecified KCNE4 +OMIM:607775 skos:exactMatch UMLS:C1416567 Unspecified KCNE4 +OMIM:607775 skos:exactMatch HGNC_symbol:KCNE4 Unspecified KCNE4 +OMIM:605112 skos:exactMatch HGNC_symbol:TMOD3 Unspecified TMOD3 +OMIM:605112 skos:exactMatch HGNC:11873 Unspecified TMOD3 +OMIM:605112 skos:exactMatch UMLS:C1420781 Unspecified TMOD3 +OMIM:605112 skos:exactMatch UMLS:C3468042 Unspecified TMOD3 +OMIM:607774 skos:exactMatch HGNC_symbol:PLEKHA3 Unspecified PLEKHA3 +OMIM:607774 skos:exactMatch UMLS:C1422575 Unspecified PLEKHA3 +OMIM:607774 skos:exactMatch HGNC:14338 Unspecified PLEKHA3 +OMIM:605113 skos:exactMatch UMLS:C0543533 Unspecified AASS +OMIM:605113 skos:exactMatch UMLS:C1424938 Unspecified AASS +OMIM:605113 skos:exactMatch HGNC:17366 Unspecified AASS +OMIM:605113 skos:exactMatch HGNC_symbol:AASS Unspecified AASS +OMIM:607759 skos:exactMatch HGNC_symbol:ITGA2B Unspecified ITGA2B +OMIM:607759 skos:exactMatch HGNC:6138 Unspecified ITGA2B +OMIM:607759 skos:exactMatch UMLS:C1416485 Unspecified ITGA2B +OMIM:607758 skos:exactMatch HGNC_symbol:CTNNBIP1 Unspecified CTNNBIP1 +OMIM:607758 skos:exactMatch HGNC:16913 Unspecified CTNNBIP1 +OMIM:607758 skos:exactMatch UMLS:C1424630 Unspecified CTNNBIP1 +OMIM:607757 skos:exactMatch HGNC:1307 Unspecified CBY1 +OMIM:607757 skos:exactMatch UMLS:C1538626 Unspecified CBY1 +OMIM:607757 skos:exactMatch HGNC_symbol:CBY1 Unspecified CBY1 +OMIM:607756 skos:exactMatch HGNC:14235 Unspecified AASDHPPT +OMIM:607756 skos:exactMatch HGNC_symbol:AASDHPPT Unspecified AASDHPPT +OMIM:607756 skos:exactMatch UMLS:C1422497 Unspecified AASDHPPT +OMIM:619740 skos:exactMatch HGNC:53619 Unspecified ASDURF +OMIM:619740 skos:exactMatch HGNC_symbol:ASDURF Unspecified ASDURF +OMIM:619741 skos:exactMatch HGNC:28046 Unspecified ZMAT5 +OMIM:619741 skos:exactMatch HGNC_symbol:ZMAT5 Unspecified ZMAT5 +OMIM:619744 skos:exactMatch HGNC:30246 Unspecified ZCCHC17 +OMIM:619744 skos:exactMatch HGNC_symbol:ZCCHC17 Unspecified ZCCHC17 +OMIM:619739 skos:exactMatch HGNC_symbol:ASNSD1 Unspecified ASNSD1 +OMIM:619739 skos:exactMatch HGNC:24910 Unspecified ASNSD1 +OMIM:607762 skos:exactMatch UMLS:C1425795 Unspecified KIRREL2 +OMIM:607762 skos:exactMatch HGNC:18816 Unspecified KIRREL2 +OMIM:607762 skos:exactMatch HGNC_symbol:KIRREL2 Unspecified KIRREL2 +OMIM:607761 skos:exactMatch HGNC:23204 Unspecified KIRREL3 +OMIM:607761 skos:exactMatch UMLS:C4015968 Unspecified KIRREL3 +OMIM:607761 skos:exactMatch HGNC_symbol:KIRREL3 Unspecified KIRREL3 +OMIM:607761 skos:exactMatch UMLS:C1427986 Unspecified KIRREL3 +OMIM:605100 skos:exactMatch UMLS:C1418816 Unspecified PPM1D +OMIM:605100 skos:exactMatch HGNC_symbol:PPM1D Unspecified PPM1D +OMIM:605100 skos:exactMatch HGNC:9277 Unspecified PPM1D +OMIM:607760 skos:exactMatch HGNC:17008 Unspecified TOPBP1 +OMIM:607760 skos:exactMatch HGNC_symbol:TOPBP1 Unspecified TOPBP1 +OMIM:607760 skos:exactMatch UMLS:C1336660 Unspecified TOPBP1 +OMIM:607766 skos:exactMatch UMLS:C1424304 Unspecified CENTB2 +OMIM:607766 skos:exactMatch HGNC_symbol:ACAP2 Unspecified CENTB2 +OMIM:607766 skos:exactMatch HGNC:16469 Unspecified CENTB2 +OMIM:605103 skos:exactMatch HGNC_symbol:NMU Unspecified NMU +OMIM:605103 skos:exactMatch UMLS:C1334887 Unspecified NMU +OMIM:605103 skos:exactMatch HGNC:7859 Unspecified NMU +OMIM:605104 skos:exactMatch HGNC:18222 Unspecified RBFOX1 +OMIM:605104 skos:exactMatch HGNC_symbol:RBFOX1 Unspecified RBFOX1 +OMIM:605104 skos:exactMatch UMLS:C1854634 Unspecified RBFOX1 +OMIM:607765 skos:exactMatch UMLS:C1843116 Unspecified bile acid synthesis defect, congenital, 1 +OMIM:607764 skos:exactMatch UMLS:C1425449 Unspecified HSD3B7 +OMIM:607764 skos:exactMatch HGNC_symbol:HSD3B7 Unspecified HSD3B7 +OMIM:607764 skos:exactMatch HGNC:18324 Unspecified HSD3B7 +OMIM:605101 skos:exactMatch UMLS:C1424725 Unspecified TAB2 +OMIM:605101 skos:exactMatch HGNC:17075 Unspecified TAB2 +OMIM:605101 skos:exactMatch HGNC_symbol:TAB2 Unspecified TAB2 +OMIM:605102 skos:exactMatch UMLS:C1417037 Unspecified MASP2 +OMIM:605102 skos:exactMatch HGNC:6902 Unspecified MASP2 +OMIM:605102 skos:exactMatch HGNC_symbol:MASP2 Unspecified MASP2 +OMIM:607763 skos:exactMatch UMLS:C1424303 Unspecified CENTB1 +OMIM:607763 skos:exactMatch HGNC_symbol:ACAP1 Unspecified CENTB1 +OMIM:607763 skos:exactMatch HGNC:16467 Unspecified CENTB1 +OMIM:607748 skos:exactMatch UMLS:C1843139 Unspecified hypercholanemia, familial 1 +OMIM:607747 skos:exactMatch HGNC_symbol:FBLIM1 Unspecified FBLIM1 +OMIM:607747 skos:exactMatch HGNC:24686 Unspecified FBLIM1 +OMIM:607747 skos:exactMatch UMLS:C1825283 Unspecified FBLIM1 +OMIM:607746 skos:exactMatch HGNC:15767 Unspecified FERMT2 +OMIM:607746 skos:exactMatch UMLS:C1423716 Unspecified FERMT2 +OMIM:607746 skos:exactMatch HGNC_symbol:FERMT2 Unspecified FERMT2 +OMIM:607745 skos:exactMatch ORPHA:140927 Unspecified seizures, benign familial infantile, 3 +OMIM:607745 skos:exactMatch UMLS:C1843140 Unspecified seizures, benign familial infantile, 3 +OMIM:607745 skos:exactMatch ORPHA:306 Unspecified seizures, benign familial infantile, 3 +OMIM:607749 skos:exactMatch HGNC_symbol:CDCA3 Unspecified CDCA3 +OMIM:607749 skos:exactMatch HGNC:14624 Unspecified CDCA3 +OMIM:607749 skos:exactMatch UMLS:C1422796 Unspecified CDCA3 +OMIM:619730 skos:exactMatch HGNC_symbol:ACTR5 Unspecified ACTR5 +OMIM:619730 skos:exactMatch HGNC:14671 Unspecified ACTR5 +OMIM:619734 skos:exactMatch HGNC_symbol:EPDR1 Unspecified EPDR1 +OMIM:619734 skos:exactMatch HGNC:17572 Unspecified EPDR1 +OMIM:619731 skos:exactMatch HGNC:17372 Unspecified ACTR10 +OMIM:619731 skos:exactMatch HGNC_symbol:ACTR10 Unspecified ACTR10 +OMIM:619732 skos:exactMatch HGNC:26303 Unspecified PXYLP1 +OMIM:619732 skos:exactMatch HGNC_symbol:PXYLP1 Unspecified PXYLP1 +OMIM:619726 skos:exactMatch HGNC:17410 Unspecified HAPLN2 +OMIM:619726 skos:exactMatch HGNC_symbol:HAPLN2 Unspecified HAPLN2 +OMIM:250460 skos:exactMatch UMLS:C1834821 Unspecified metaphyseal dysplasia without hypotrichosis +OMIM:619728 skos:exactMatch HGNC_symbol:ABHD4 Unspecified ABHD4 +OMIM:619728 skos:exactMatch HGNC:20154 Unspecified ABHD4 +OMIM:619729 skos:exactMatch HGNC_symbol:ACTR6 Unspecified ACTR6 +OMIM:619729 skos:exactMatch HGNC:24025 Unspecified ACTR6 +OMIM:607751 skos:exactMatch UMLS:C1419055 Unspecified TAS2R38 +OMIM:607751 skos:exactMatch HGNC_symbol:TAS2R38 Unspecified TAS2R38 +OMIM:607751 skos:exactMatch HGNC:9584 Unspecified TAS2R38 +OMIM:308300 skos:exactMatch UMLS:C2930820 Unspecified incontinentia pigmenti +OMIM:308300 skos:exactMatch ORPHA:464 Unspecified incontinentia pigmenti +OMIM:308300 skos:exactMatch UMLS:C0021171 Unspecified incontinentia pigmenti +OMIM:607750 skos:exactMatch HGNC_symbol:APOBEC3C Unspecified APOBEC3C +OMIM:607750 skos:exactMatch UMLS:C1424926 Unspecified APOBEC3C +OMIM:607750 skos:exactMatch HGNC:17353 Unspecified APOBEC3C +OMIM:607755 skos:exactMatch HGNC_symbol:MAPK8IP2 Unspecified MAPK8IP2 +OMIM:607755 skos:exactMatch HGNC:6883 Unspecified MAPK8IP2 +OMIM:607755 skos:exactMatch UMLS:C1417025 Unspecified MAPK8IP2 +OMIM:607754 skos:exactMatch HGNC:7112 Unspecified MKRN1 +OMIM:607754 skos:exactMatch UMLS:C1417177 Unspecified MKRN1 +OMIM:607754 skos:exactMatch HGNC_symbol:MKRN1 Unspecified MKRN1 +OMIM:607753 skos:exactMatch UMLS:C1822794 Unspecified None +OMIM:607753 skos:exactMatch HGNC_symbol:SMUG1 Unspecified None +OMIM:607753 skos:exactMatch HGNC:17148 Unspecified None +OMIM:607752 skos:exactMatch UMLS:C1425614 Unspecified CCNO +OMIM:607752 skos:exactMatch HGNC:18576 Unspecified CCNO +OMIM:607752 skos:exactMatch UMLS:C4014534 Unspecified CCNO +OMIM:607752 skos:exactMatch HGNC_symbol:CCNO Unspecified CCNO +OMIM:607737 skos:exactMatch HGNC_symbol:FGFBP1 Unspecified FGFBP1 +OMIM:607737 skos:exactMatch UMLS:C1539517 Unspecified FGFBP1 +OMIM:607737 skos:exactMatch HGNC:19695 Unspecified FGFBP1 +OMIM:607736 skos:exactMatch UMLS:C1843153 Unspecified charcot-marie-tooth disease, axonal, iia 2j +OMIM:607735 skos:exactMatch HGNC:16089 Unspecified PGRMC2 +OMIM:607735 skos:exactMatch HGNC_symbol:PGRMC2 Unspecified PGRMC2 +OMIM:607735 skos:exactMatch UMLS:C1423970 Unspecified PGRMC2 +OMIM:607734 skos:exactMatch ORPHA:101085 Unspecified charcot-marie-tooth disease, demyelinating, iia 1f +OMIM:607734 skos:exactMatch ORPHA:228374 Unspecified charcot-marie-tooth disease, demyelinating, iia 1f +OMIM:607734 skos:exactMatch UMLS:C1843164 Unspecified charcot-marie-tooth disease, demyelinating, iia 1f +OMIM:607738 skos:exactMatch UMLS:C1416555 Unspecified KCNB2 +OMIM:607738 skos:exactMatch HGNC_symbol:KCNB2 Unspecified KCNB2 +OMIM:607738 skos:exactMatch HGNC:6232 Unspecified KCNB2 +OMIM:619722 skos:exactMatch HGNC_symbol:TMEM53 Unspecified TMEM53 +OMIM:619722 skos:exactMatch HGNC:26186 Unspecified TMEM53 +OMIM:619723 skos:exactMatch HGNC:29507 Unspecified SCPEP1 +OMIM:619723 skos:exactMatch HGNC_symbol:SCPEP1 Unspecified SCPEP1 +OMIM:619715 skos:exactMatch HGNC:30917 Unspecified WIZ +OMIM:619715 skos:exactMatch HGNC_symbol:WIZ Unspecified WIZ +OMIM:619716 skos:exactMatch HGNC_symbol:ACTR8 Unspecified ACTR8 +OMIM:619716 skos:exactMatch HGNC:14672 Unspecified ACTR8 +OMIM:619713 skos:exactMatch HGNC_symbol:CDHR2 Unspecified CDHR2 +OMIM:619713 skos:exactMatch HGNC:18231 Unspecified CDHR2 +OMIM:607740 skos:exactMatch HGNC_symbol:USP32 Unspecified USP32 +OMIM:607740 skos:exactMatch HGNC:19143 Unspecified USP32 +OMIM:607740 skos:exactMatch UMLS:C1426039 Unspecified USP32 +OMIM:607744 skos:exactMatch HGNC_symbol:FRS3 Unspecified FRS3 +OMIM:607744 skos:exactMatch HGNC:16970 Unspecified FRS3 +OMIM:607744 skos:exactMatch UMLS:C1333579 Unspecified FRS3 +OMIM:607743 skos:exactMatch HGNC_symbol:FRS2 Unspecified FRS2 +OMIM:607743 skos:exactMatch HGNC:16971 Unspecified FRS2 +OMIM:607743 skos:exactMatch UMLS:C1333578 Unspecified FRS2 +OMIM:607742 skos:exactMatch UMLS:C1425578 Unspecified KRT24 +OMIM:607742 skos:exactMatch HGNC_symbol:KRT24 Unspecified KRT24 +OMIM:607742 skos:exactMatch HGNC:18527 Unspecified KRT24 +OMIM:607741 skos:exactMatch HGNC_symbol:TBC1D3 Unspecified TBC1D3 +OMIM:607741 skos:exactMatch UMLS:C1425967 Unspecified TBC1D3 +OMIM:607741 skos:exactMatch HGNC:19031 Unspecified TBC1D3 +OMIM:605149 skos:exactMatch HGNC:10639 Unspecified CXCL13 +OMIM:605149 skos:exactMatch UMLS:C1366572 Unspecified CXCL13 +OMIM:605149 skos:exactMatch HGNC_symbol:CXCL13 Unspecified CXCL13 +OMIM:619791 skos:exactMatch HGNC:13543 Unspecified ATP10B +OMIM:619791 skos:exactMatch HGNC_symbol:ATP10B Unspecified ATP10B +OMIM:619792 skos:exactMatch HGNC_symbol:ATP5MF Unspecified ATP5MF +OMIM:619792 skos:exactMatch HGNC:848 Unspecified ATP5MF +OMIM:617130 skos:exactMatch HGNC_symbol:MAJIN Unspecified MAJIN +OMIM:617130 skos:exactMatch HGNC:27441 Unspecified MAJIN +OMIM:617130 skos:exactMatch UMLS:C2681265 Unspecified MAJIN +OMIM:617132 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 44 +OMIM:617132 skos:exactMatch UMLS:C4310700 Unspecified developmental and epileptic encephalopathy 44 +OMIM:617131 skos:exactMatch UMLS:C1824407 Unspecified TERB2 +OMIM:617131 skos:exactMatch HGNC:28520 Unspecified TERB2 +OMIM:617131 skos:exactMatch HGNC_symbol:TERB2 Unspecified TERB2 +OMIM:619796 skos:exactMatch HGNC:14439 Unspecified FLACC1 +OMIM:619796 skos:exactMatch HGNC_symbol:FLACC1 Unspecified FLACC1 +OMIM:617134 skos:exactMatch UMLS:C1823295 Unspecified TMCO3 +OMIM:617134 skos:exactMatch HGNC:20329 Unspecified TMCO3 +OMIM:617134 skos:exactMatch HGNC_symbol:TMCO3 Unspecified TMCO3 +OMIM:617133 skos:exactMatch UMLS:C4310699 Unspecified spinocerebellar ataxia, autosomal recessive 24 +OMIM:619794 skos:exactMatch HGNC:37203 Unspecified VWC2L +OMIM:619794 skos:exactMatch HGNC_symbol:VWC2L Unspecified VWC2L +OMIM:617136 skos:exactMatch HGNC_symbol:TFAP2A-AS2 Unspecified TFAP2AAS2 +OMIM:617136 skos:exactMatch HGNC:52289 Unspecified TFAP2AAS2 +OMIM:617136 skos:exactMatch UMLS:C4319919 Unspecified TFAP2AAS2 +OMIM:617135 skos:exactMatch UMLS:C1537515 Unspecified L3MBTL4 +OMIM:617135 skos:exactMatch HGNC:26677 Unspecified L3MBTL4 +OMIM:617135 skos:exactMatch HGNC_symbol:L3MBTL4 Unspecified L3MBTL4 +OMIM:617138 skos:exactMatch HGNC_symbol:SKOR2 Unspecified SKOR2 +OMIM:617138 skos:exactMatch UMLS:C3146459 Unspecified SKOR2 +OMIM:617138 skos:exactMatch HGNC:32695 Unspecified SKOR2 +OMIM:617137 skos:exactMatch ORPHA:1826 Unspecified frontometaphyseal dysplasia 2 +OMIM:617137 skos:exactMatch UMLS:C4310697 Unspecified frontometaphyseal dysplasia 2 +OMIM:619798 skos:exactMatch HGNC:3317 Unspecified ELF2 +OMIM:619798 skos:exactMatch HGNC_symbol:ELF2 Unspecified ELF2 +OMIM:617129 skos:exactMatch HGNC_symbol:INSYN2A Unspecified FAM196A +OMIM:617129 skos:exactMatch UMLS:C2240296 Unspecified FAM196A +OMIM:617129 skos:exactMatch HGNC:33859 Unspecified FAM196A +OMIM:617128 skos:exactMatch UMLS:C2681289 Unspecified INSYN1 +OMIM:617128 skos:exactMatch HGNC_symbol:INSYN1 Unspecified INSYN1 +OMIM:617128 skos:exactMatch HGNC:33753 Unspecified INSYN1 +OMIM:605154 skos:exactMatch HGNC:9844 Unspecified RAMP2 +OMIM:605154 skos:exactMatch HGNC_symbol:RAMP2 Unspecified RAMP2 +OMIM:605154 skos:exactMatch UMLS:C1419255 Unspecified RAMP2 +OMIM:605155 skos:exactMatch HGNC:9845 Unspecified RAMP3 +OMIM:605155 skos:exactMatch HGNC_symbol:RAMP3 Unspecified RAMP3 +OMIM:605155 skos:exactMatch UMLS:C1419256 Unspecified RAMP3 +OMIM:605152 skos:exactMatch HGNC:17229 Unspecified CFAP45 +OMIM:605152 skos:exactMatch HGNC_symbol:CFAP45 Unspecified CFAP45 +OMIM:605152 skos:exactMatch UMLS:C1824545 Unspecified CFAP45 +OMIM:605153 skos:exactMatch HGNC:9843 Unspecified RAMP1 +OMIM:605153 skos:exactMatch HGNC_symbol:RAMP1 Unspecified RAMP1 +OMIM:605153 skos:exactMatch UMLS:C1419254 Unspecified RAMP1 +OMIM:605158 skos:exactMatch UMLS:C1826745 Unspecified PXDN +OMIM:605158 skos:exactMatch HGNC_symbol:PXDN Unspecified PXDN +OMIM:605158 skos:exactMatch HGNC:14966 Unspecified PXDN +OMIM:605159 skos:exactMatch UMLS:C1826619 Unspecified AIFM2 +OMIM:605159 skos:exactMatch HGNC:21411 Unspecified AIFM2 +OMIM:605159 skos:exactMatch HGNC_symbol:AIFM2 Unspecified AIFM2 +OMIM:605157 skos:exactMatch UMLS:C1854597 Unspecified None +OMIM:605138 skos:exactMatch HGNC_symbol:OAZ3 Unspecified OAZ3 +OMIM:605138 skos:exactMatch UMLS:C1417923 Unspecified OAZ3 +OMIM:605138 skos:exactMatch HGNC:8097 Unspecified OAZ3 +OMIM:605139 skos:exactMatch HGNC_symbol:CCT2 Unspecified CCT2 +OMIM:605139 skos:exactMatch HGNC:1615 Unspecified CCT2 +OMIM:605139 skos:exactMatch UMLS:C1413194 Unspecified CCT2 +OMIM:617121 skos:exactMatch ORPHA:475 Unspecified joubert syndrome 28 +OMIM:617121 skos:exactMatch ORPHA:220493 Unspecified joubert syndrome 28 +OMIM:617121 skos:exactMatch UMLS:C4310705 Unspecified joubert syndrome 28 +OMIM:617120 skos:exactMatch UMLS:C4310706 Unspecified joubert syndrome 27 +OMIM:617123 skos:exactMatch UMLS:C4310704 Unspecified retinitis pigmentosa 76 +OMIM:619782 skos:exactMatch HGNC:22135 Unspecified SPACDR +OMIM:619782 skos:exactMatch HGNC_symbol:SPACDR Unspecified SPACDR +OMIM:617122 skos:exactMatch HGNC_symbol:PCOTH Unspecified C1QTNF9BAS1 +OMIM:617122 skos:exactMatch UMLS:C3469661 Unspecified C1QTNF9BAS1 +OMIM:617122 skos:exactMatch HGNC:39839 Unspecified C1QTNF9BAS1 +OMIM:617125 skos:exactMatch UMLS:C4310703 Unspecified intellectual developmental disorder, autosomal recessive 56 +OMIM:619788 skos:exactMatch HGNC:28087 Unspecified ARRDC4 +OMIM:619788 skos:exactMatch HGNC_symbol:ARRDC4 Unspecified ARRDC4 +OMIM:130600 skos:exactMatch UMLS:C1851741 Unspecified elliptocytosis 2 +OMIM:617124 skos:exactMatch UMLS:C2239827 Unspecified PM20D1 +OMIM:617124 skos:exactMatch HGNC_symbol:PM20D1 Unspecified PM20D1 +OMIM:617124 skos:exactMatch HGNC:26518 Unspecified PM20D1 +OMIM:617127 skos:exactMatch UMLS:C4310701 Unspecified orofaciodigital syndrome 15 +OMIM:617126 skos:exactMatch UMLS:C4310702 Unspecified alazami-yuan syndrome +OMIM:617118 skos:exactMatch UMLS:C4310708 Unspecified epilepsy, familial focal, with variable foci 3 +OMIM:617117 skos:exactMatch HGNC_symbol:LINC00663 Unspecified LINC00663 +OMIM:617117 skos:exactMatch UMLS:C3540288 Unspecified LINC00663 +OMIM:617117 skos:exactMatch HGNC:28609 Unspecified LINC00663 +OMIM:619779 skos:exactMatch HGNC:28141 Unspecified AFAP1AS1 +OMIM:619779 skos:exactMatch HGNC_symbol:AFAP1-AS1 Unspecified AFAP1AS1 +OMIM:617119 skos:exactMatch UMLS:C4310707 Unspecified bardet-biedl syndrome 22 +OMIM:605140 skos:exactMatch HGNC_symbol:CCT7 Unspecified CCT7 +OMIM:605140 skos:exactMatch HGNC:1622 Unspecified CCT7 +OMIM:605140 skos:exactMatch UMLS:C1413200 Unspecified CCT7 +OMIM:250450 skos:exactMatch UMLS:C1855174 Unspecified metaphyseal dysplasia, anetoderma, and optic atrophy +OMIM:605143 skos:exactMatch HGNC:167 Unspecified ACTR1A +OMIM:605143 skos:exactMatch HGNC_symbol:ACTR1A Unspecified ACTR1A +OMIM:605143 skos:exactMatch UMLS:C1412169 Unspecified ACTR1A +OMIM:605144 skos:exactMatch HGNC:168 Unspecified ACTR1B +OMIM:605144 skos:exactMatch HGNC_symbol:ACTR1B Unspecified ACTR1B +OMIM:605144 skos:exactMatch UMLS:C1412170 Unspecified ACTR1B +OMIM:274400 skos:exactMatch UMLS:C1848805 Unspecified thyroid dyshormonogenesis 1 +OMIM:605141 skos:exactMatch UMLS:C1421462 Unspecified VPREB1 +OMIM:605141 skos:exactMatch HGNC_symbol:VPREB1 Unspecified VPREB1 +OMIM:605141 skos:exactMatch HGNC:12709 Unspecified VPREB1 +OMIM:605142 skos:exactMatch HGNC_symbol:CCT4 Unspecified CCT4 +OMIM:605142 skos:exactMatch HGNC:1617 Unspecified CCT4 +OMIM:605142 skos:exactMatch UMLS:C1413196 Unspecified CCT4 +OMIM:605147 skos:exactMatch HGNC:17005 Unspecified LECT1 +OMIM:605147 skos:exactMatch HGNC_symbol:CNMD Unspecified LECT1 +OMIM:605147 skos:exactMatch UMLS:C1424681 Unspecified LECT1 +OMIM:605148 skos:exactMatch HGNC_symbol:GALNT6 Unspecified GALNT6 +OMIM:605148 skos:exactMatch HGNC:4128 Unspecified GALNT6 +OMIM:605148 skos:exactMatch UMLS:C1414956 Unspecified GALNT6 +OMIM:605145 skos:exactMatch HGNC_symbol:ANKH Unspecified ANKH +OMIM:605145 skos:exactMatch UMLS:C1423529 Unspecified ANKH +OMIM:605145 skos:exactMatch HGNC:15492 Unspecified ANKH +OMIM:605146 skos:exactMatch HGNC_symbol:S1PR5 Unspecified S1PR5 +OMIM:605146 skos:exactMatch UMLS:C1422554 Unspecified S1PR5 +OMIM:605146 skos:exactMatch HGNC:14299 Unspecified S1PR5 +OMIM:605129 skos:exactMatch UMLS:C1419043 Unspecified PSME3 +OMIM:605129 skos:exactMatch HGNC_symbol:PSME3 Unspecified PSME3 +OMIM:605129 skos:exactMatch HGNC:9570 Unspecified PSME3 +OMIM:605127 skos:exactMatch UMLS:C1417967 Unspecified OPTC +OMIM:605127 skos:exactMatch HGNC_symbol:OPTC Unspecified OPTC +OMIM:605127 skos:exactMatch HGNC:8158 Unspecified OPTC +OMIM:607789 skos:exactMatch HGNC:8921 Unspecified PHF3 +OMIM:607789 skos:exactMatch HGNC_symbol:PHF3 Unspecified PHF3 +OMIM:607789 skos:exactMatch UMLS:C1418529 Unspecified PHF3 +OMIM:605128 skos:exactMatch HGNC_symbol:GUCA1C Unspecified GUCA1C +OMIM:605128 skos:exactMatch HGNC:4680 Unspecified GUCA1C +OMIM:605128 skos:exactMatch UMLS:C1415356 Unspecified GUCA1C +OMIM:619770 skos:exactMatch HGNC:27158 Unspecified YDJC +OMIM:619770 skos:exactMatch HGNC_symbol:YDJC Unspecified YDJC +OMIM:617110 skos:exactMatch HGNC:25740 Unspecified CEP78 +OMIM:617110 skos:exactMatch UMLS:C1824716 Unspecified CEP78 +OMIM:617110 skos:exactMatch HGNC_symbol:CEP78 Unspecified CEP78 +OMIM:617112 skos:exactMatch UMLS:C1825673 Unspecified KIAA0753 +OMIM:617112 skos:exactMatch HGNC:29110 Unspecified KIAA0753 +OMIM:617112 skos:exactMatch HGNC_symbol:KIAA0753 Unspecified KIAA0753 +OMIM:619771 skos:exactMatch HGNC:18996 Unspecified VRK3 +OMIM:619771 skos:exactMatch HGNC_symbol:VRK3 Unspecified VRK3 +OMIM:617111 skos:exactMatch UMLS:C4310713 Unspecified macular dystrophy, patterned, 3 +OMIM:619772 skos:exactMatch HGNC_symbol:PAAF1 Unspecified PAAF1 +OMIM:619772 skos:exactMatch HGNC:25687 Unspecified PAAF1 +OMIM:617114 skos:exactMatch UMLS:C4310711 Unspecified myopathy, myofibrillar, 7 +OMIM:617113 skos:exactMatch ORPHA:2382 Unspecified developmental and epileptic encephalopathy 43 +OMIM:617113 skos:exactMatch UMLS:C4310712 Unspecified developmental and epileptic encephalopathy 43 +OMIM:619778 skos:exactMatch HGNC:26752 Unspecified ANKRD42 +OMIM:619778 skos:exactMatch HGNC_symbol:ANKRD42 Unspecified ANKRD42 +OMIM:130610 skos:exactMatch UMLS:C1414295 Unspecified EEF2 +OMIM:130610 skos:exactMatch HGNC:3214 Unspecified EEF2 +OMIM:130610 skos:exactMatch HGNC_symbol:EEF2 Unspecified EEF2 +OMIM:617116 skos:exactMatch UMLS:C4310709 Unspecified epilepsy, familial focal, with variable foci 2 +OMIM:617115 skos:exactMatch UMLS:C4310710 Unspecified peeling skin syndrome 5 +OMIM:619776 skos:exactMatch HGNC:14438 Unspecified C2CD6 +OMIM:619776 skos:exactMatch HGNC_symbol:C2CD6 Unspecified C2CD6 +OMIM:617107 skos:exactMatch UMLS:C4310715 Unspecified thauvin-robinet-faivre syndrome +OMIM:617106 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 42 +OMIM:617106 skos:exactMatch UMLS:C4310716 Unspecified developmental and epileptic encephalopathy 42 +OMIM:619768 skos:exactMatch HGNC_symbol:ARRDC1 Unspecified ARRDC1 +OMIM:619768 skos:exactMatch HGNC:28633 Unspecified ARRDC1 +OMIM:617109 skos:exactMatch UMLS:C3469921 Unspecified CREBRF +OMIM:617109 skos:exactMatch HGNC:24050 Unspecified CREBRF +OMIM:617109 skos:exactMatch HGNC_symbol:CREBRF Unspecified CREBRF +OMIM:617108 skos:exactMatch UMLS:C4310714 Unspecified sessile serrated polyposis cancer syndrome +OMIM:607791 skos:exactMatch UMLS:C1843075 Unspecified charcot-marie-tooth disease, dominant intermediate d +OMIM:607790 skos:exactMatch HGNC:29484 Unspecified TET1 +OMIM:607790 skos:exactMatch HGNC_symbol:TET1 Unspecified TET1 +OMIM:607790 skos:exactMatch UMLS:C1428863 Unspecified TET1 +OMIM:607795 skos:exactMatch UMLS:C1424922 Unspecified PRPF4 +OMIM:607795 skos:exactMatch HGNC_symbol:PRPF4 Unspecified PRPF4 +OMIM:607795 skos:exactMatch HGNC:17349 Unspecified PRPF4 +OMIM:605132 skos:exactMatch HGNC:11840 Unspecified TLE4 +OMIM:605132 skos:exactMatch UMLS:C1420755 Unspecified TLE4 +OMIM:605132 skos:exactMatch HGNC_symbol:TLE4 Unspecified TLE4 +OMIM:250420 skos:exactMatch UMLS:C1855175 Unspecified metaphyseal dysostosis, mental retardation, and conductive deafness +OMIM:607794 skos:exactMatch HGNC_symbol:MESTIT1 Unspecified MESTIT1 +OMIM:607794 skos:exactMatch HGNC:17991 Unspecified MESTIT1 +OMIM:607794 skos:exactMatch UMLS:C1425221 Unspecified MESTIT1 +OMIM:605133 skos:exactMatch HGNC_symbol:NCBP2 Unspecified NCBP2 +OMIM:605133 skos:exactMatch UMLS:C1417607 Unspecified NCBP2 +OMIM:605133 skos:exactMatch HGNC:7659 Unspecified NCBP2 +OMIM:605130 skos:exactMatch UMLS:C1854630 Unspecified wiedemann-steiner syndrome +OMIM:605130 skos:exactMatch ORPHA:319182 Unspecified wiedemann-steiner syndrome +OMIM:607793 skos:exactMatch UMLS:C1418773 Unspecified PPAN +OMIM:607793 skos:exactMatch HGNC_symbol:PPAN Unspecified PPAN +OMIM:607793 skos:exactMatch HGNC:9227 Unspecified PPAN +OMIM:605131 skos:exactMatch HGNC:12799 Unspecified WWOX +OMIM:605131 skos:exactMatch UMLS:C4016881 Unspecified WWOX +OMIM:605131 skos:exactMatch UMLS:C4015519 Unspecified WWOX +OMIM:605131 skos:exactMatch UMLS:C1421525 Unspecified WWOX +OMIM:605131 skos:exactMatch UMLS:C3280452 Unspecified WWOX +OMIM:605131 skos:exactMatch UMLS:C1414724 Unspecified WWOX +OMIM:605131 skos:exactMatch HGNC_symbol:WWOX Unspecified WWOX +OMIM:607792 skos:exactMatch HGNC_symbol:GCSAM Unspecified GCSAM +OMIM:607792 skos:exactMatch HGNC:20253 Unspecified GCSAM +OMIM:607792 skos:exactMatch UMLS:C1426810 Unspecified GCSAM +OMIM:607799 skos:exactMatch UMLS:C1538168 Unspecified ZDHHC17 +OMIM:607799 skos:exactMatch HGNC:18412 Unspecified ZDHHC17 +OMIM:607799 skos:exactMatch HGNC_symbol:ZDHHC17 Unspecified ZDHHC17 +OMIM:607798 skos:exactMatch HGNC:18056 Unspecified TAF1L +OMIM:607798 skos:exactMatch HGNC_symbol:TAF1L Unspecified TAF1L +OMIM:607798 skos:exactMatch UMLS:C1425269 Unspecified TAF1L +OMIM:607797 skos:exactMatch UMLS:C1823824 Unspecified SNRNP40 +OMIM:607797 skos:exactMatch HGNC_symbol:SNRNP40 Unspecified SNRNP40 +OMIM:607797 skos:exactMatch HGNC:30857 Unspecified SNRNP40 +OMIM:605134 skos:exactMatch HGNC_symbol:PITPNC1 Unspecified PITPNC1 +OMIM:605134 skos:exactMatch HGNC:21045 Unspecified PITPNC1 +OMIM:605134 skos:exactMatch UMLS:C1427271 Unspecified PITPNC1 +OMIM:607796 skos:exactMatch HGNC_symbol:PHF11 Unspecified PHF11 +OMIM:607796 skos:exactMatch HGNC:17024 Unspecified PHF11 +OMIM:607796 skos:exactMatch UMLS:C1424694 Unspecified PHF11 +OMIM:605118 skos:exactMatch HGNC:16833 Unspecified SOCS6 +OMIM:605118 skos:exactMatch UMLS:C1424581 Unspecified SOCS6 +OMIM:605118 skos:exactMatch HGNC_symbol:SOCS6 Unspecified SOCS6 +OMIM:605119 skos:exactMatch UMLS:C1418817 Unspecified PPM1G +OMIM:605119 skos:exactMatch HGNC_symbol:PPM1G Unspecified PPM1G +OMIM:605119 skos:exactMatch HGNC:9278 Unspecified PPM1G +OMIM:605116 skos:exactMatch HGNC:14079 Unspecified CHRNA9 +OMIM:605116 skos:exactMatch HGNC_symbol:CHRNA9 Unspecified CHRNA9 +OMIM:605116 skos:exactMatch UMLS:C1422395 Unspecified CHRNA9 +OMIM:607779 skos:exactMatch HGNC:23146 Unspecified PAQR7 +OMIM:607779 skos:exactMatch UMLS:C1826541 Unspecified PAQR7 +OMIM:607779 skos:exactMatch HGNC_symbol:PAQR7 Unspecified PAQR7 +OMIM:607778 skos:exactMatch UMLS:C1843096 Unspecified acrocapitofemoral dysplasia +OMIM:605117 skos:exactMatch HGNC:19382 Unspecified SOCS2 +OMIM:605117 skos:exactMatch HGNC_symbol:SOCS2 Unspecified SOCS2 +OMIM:605117 skos:exactMatch UMLS:C1426207 Unspecified SOCS2 +OMIM:619763 skos:exactMatch HGNC_symbol:WDTC1 Unspecified WDTC1 +OMIM:619763 skos:exactMatch HGNC:29175 Unspecified WDTC1 +OMIM:619760 skos:exactMatch HGNC_symbol:ATP23 Unspecified ATP23 +OMIM:619760 skos:exactMatch HGNC:29452 Unspecified ATP23 +OMIM:262400 skos:exactMatch UMLS:C0342573 Unspecified isolated growth hormone deficiency, iia 1a +OMIM:130620 skos:exactMatch UMLS:C1419703 Unspecified RPS14 +OMIM:130620 skos:exactMatch HGNC:10387 Unspecified RPS14 +OMIM:130620 skos:exactMatch HGNC_symbol:RPS14 Unspecified RPS14 +OMIM:617101 skos:exactMatch UMLS:C4310833 Unspecified intellectual developmental disorder with persistence of fetal hemoglobin +OMIM:617100 skos:exactMatch UMLS:C4310719 Unspecified familial adenomatous polyposis 4 +OMIM:617103 skos:exactMatch HGNC:25821 Unspecified ZNF668 +OMIM:617103 skos:exactMatch UMLS:C1538232 Unspecified ZNF668 +OMIM:617103 skos:exactMatch HGNC_symbol:ZNF668 Unspecified ZNF668 +OMIM:619766 skos:exactMatch HGNC:17798 Unspecified YLPM1 +OMIM:619766 skos:exactMatch HGNC_symbol:YLPM1 Unspecified YLPM1 +OMIM:617102 skos:exactMatch UMLS:C4310718 Unspecified short-rib thoracic dysplasia 16 with or without polydactyly +OMIM:617102 skos:exactMatch ORPHA:1515 Unspecified short-rib thoracic dysplasia 16 with or without polydactyly +OMIM:617105 skos:exactMatch UMLS:C4310717 Unspecified developmental and epileptic encephalopathy 41 +OMIM:617105 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 41 +OMIM:617105 skos:exactMatch ORPHA:1935 Unspecified developmental and epileptic encephalopathy 41 +OMIM:617104 skos:exactMatch HGNC_symbol:PIP4K2C Unspecified PIP4K2C +OMIM:617104 skos:exactMatch HGNC:23786 Unspecified PIP4K2C +OMIM:617104 skos:exactMatch UMLS:C1428259 Unspecified PIP4K2C +OMIM:619765 skos:exactMatch HGNC:17295 Unspecified CRYBG2 +OMIM:619765 skos:exactMatch HGNC_symbol:CRYBG2 Unspecified CRYBG2 +OMIM:619757 skos:exactMatch HGNC:19767 Unspecified ASB15 +OMIM:619757 skos:exactMatch HGNC_symbol:ASB15 Unspecified ASB15 +OMIM:607780 skos:exactMatch UMLS:C1843095 Unspecified PAQR8 +OMIM:607780 skos:exactMatch HGNC_symbol:PAQR8 Unspecified PAQR8 +OMIM:607780 skos:exactMatch HGNC:15708 Unspecified PAQR8 +OMIM:607784 skos:exactMatch HGNC:13884 Unspecified ABCG4 +OMIM:607784 skos:exactMatch UMLS:C1422254 Unspecified ABCG4 +OMIM:607784 skos:exactMatch HGNC_symbol:ABCG4 Unspecified ABCG4 +OMIM:605121 skos:exactMatch UMLS:C1539701 Unspecified RRN3 +OMIM:605121 skos:exactMatch HGNC_symbol:RRN3 Unspecified RRN3 +OMIM:605121 skos:exactMatch HGNC:30346 Unspecified RRN3 +OMIM:607783 skos:exactMatch UMLS:C1422033 Unspecified MESD +OMIM:607783 skos:exactMatch HGNC_symbol:MESD Unspecified MESD +OMIM:607783 skos:exactMatch UMLS:C3888200 Unspecified MESD +OMIM:607783 skos:exactMatch HGNC:13520 Unspecified MESD +OMIM:605122 skos:exactMatch HGNC:11471 Unspecified SUPV3L1 +OMIM:605122 skos:exactMatch HGNC_symbol:SUPV3L1 Unspecified SUPV3L1 +OMIM:605122 skos:exactMatch UMLS:C1420525 Unspecified SUPV3L1 +OMIM:607782 skos:exactMatch HGNC:6723 Unspecified LUC7L +OMIM:607782 skos:exactMatch HGNC_symbol:LUC7L Unspecified LUC7L +OMIM:607782 skos:exactMatch UMLS:C1416935 Unspecified LUC7L +OMIM:605120 skos:exactMatch HGNC_symbol:GDF2 Unspecified GDF2 +OMIM:605120 skos:exactMatch HGNC:4217 Unspecified GDF2 +OMIM:605120 skos:exactMatch UMLS:C1415033 Unspecified GDF2 +OMIM:607781 skos:exactMatch UMLS:C1826540 Unspecified PAQR5 +OMIM:607781 skos:exactMatch HGNC_symbol:PAQR5 Unspecified PAQR5 +OMIM:607781 skos:exactMatch HGNC:29645 Unspecified PAQR5 +OMIM:605125 skos:exactMatch HGNC:4067 Unspecified GABARAP +OMIM:605125 skos:exactMatch HGNC_symbol:GABARAP Unspecified GABARAP +OMIM:605125 skos:exactMatch UMLS:C1414901 Unspecified GABARAP +OMIM:142600 skos:exactMatch UMLS:C1415554 Unspecified HK1 +OMIM:142600 skos:exactMatch HGNC_symbol:HK1 Unspecified HK1 +OMIM:142600 skos:exactMatch UMLS:C4479526 Unspecified HK1 +OMIM:142600 skos:exactMatch UMLS:C5231404 Unspecified HK1 +OMIM:142600 skos:exactMatch UMLS:C3150343 Unspecified HK1 +OMIM:142600 skos:exactMatch UMLS:C1854449 Unspecified HK1 +OMIM:142600 skos:exactMatch HGNC:4922 Unspecified HK1 +OMIM:308350 skos:exactMatch UMLS:C3463992 Unspecified developmental and epileptic encephalopathy 1 +OMIM:308350 skos:exactMatch UMLS:C4552072 Unspecified developmental and epileptic encephalopathy 1 +OMIM:308350 skos:exactMatch ORPHA:364063 Unspecified developmental and epileptic encephalopathy 1 +OMIM:308350 skos:exactMatch ORPHA:3175 Unspecified developmental and epileptic encephalopathy 1 +OMIM:308350 skos:exactMatch ORPHA:3451 Unspecified developmental and epileptic encephalopathy 1 +OMIM:308350 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 1 +OMIM:607788 skos:exactMatch HGNC_symbol:MCFD2 Unspecified MCFD2 +OMIM:607788 skos:exactMatch HGNC:18451 Unspecified MCFD2 +OMIM:607788 skos:exactMatch UMLS:C1425524 Unspecified MCFD2 +OMIM:607787 skos:exactMatch HGNC_symbol:GPR180 Unspecified GPR180 +OMIM:607787 skos:exactMatch UMLS:C1825412 Unspecified GPR180 +OMIM:607787 skos:exactMatch HGNC:28899 Unspecified GPR180 +OMIM:605126 skos:exactMatch UMLS:C1424942 Unspecified FHL5 +OMIM:605126 skos:exactMatch HGNC_symbol:FHL5 Unspecified FHL5 +OMIM:605126 skos:exactMatch HGNC:17371 Unspecified FHL5 +OMIM:605123 skos:exactMatch HGNC:11246 Unspecified SPINT1 +OMIM:605123 skos:exactMatch UMLS:C1420361 Unspecified SPINT1 +OMIM:605123 skos:exactMatch HGNC_symbol:SPINT1 Unspecified SPINT1 +OMIM:607786 skos:exactMatch HGNC_symbol:PCSK9 Unspecified PCSK9 +OMIM:607786 skos:exactMatch HGNC:20001 Unspecified PCSK9 +OMIM:607786 skos:exactMatch UMLS:C3276239 Unspecified PCSK9 +OMIM:607786 skos:exactMatch UMLS:C1426592 Unspecified PCSK9 +OMIM:607786 skos:exactMatch UMLS:C1863551 Unspecified PCSK9 +OMIM:605124 skos:exactMatch HGNC:11247 Unspecified SPINT2 +OMIM:605124 skos:exactMatch UMLS:C1420362 Unspecified SPINT2 +OMIM:605124 skos:exactMatch HGNC_symbol:SPINT2 Unspecified SPINT2 +OMIM:607785 skos:exactMatch UMLS:C0023480 Unspecified juvenile myelomonocytic leukemia +OMIM:607785 skos:exactMatch UMLS:C0349639 Unspecified juvenile myelomonocytic leukemia +OMIM:617170 skos:exactMatch UMLS:C1419897 Unspecified CWC27 +OMIM:617170 skos:exactMatch HGNC:10664 Unspecified CWC27 +OMIM:617170 skos:exactMatch HGNC_symbol:CWC27 Unspecified CWC27 +OMIM:617172 skos:exactMatch UMLS:C2681554 Unspecified GPX8 +OMIM:617172 skos:exactMatch HGNC_symbol:GPX8 Unspecified GPX8 +OMIM:617172 skos:exactMatch HGNC:33100 Unspecified GPX8 +OMIM:617171 skos:exactMatch ORPHA:468620 Unspecified neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures +OMIM:617171 skos:exactMatch UMLS:C4310683 Unspecified neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures +OMIM:617174 skos:exactMatch UMLS:C4310681 Unspecified ehlers-danlos syndrome, periodontal type, 2 +OMIM:617173 skos:exactMatch UMLS:C4310682 Unspecified intellectual developmental disorder with cardiac arrhythmia +OMIM:201475 skos:exactMatch UMLS:C3887523 Unspecified acyl-coa dehydrogenase, very long-chain, deficiency of +OMIM:617176 skos:exactMatch HGNC_symbol:MIR4271 Unspecified MIR4271 +OMIM:617176 skos:exactMatch HGNC:38332 Unspecified MIR4271 +OMIM:617176 skos:exactMatch UMLS:C2829835 Unspecified MIR4271 +OMIM:617175 skos:exactMatch UMLS:C4310680 Unspecified retinal dystrophy with or without extraocular anomalies +OMIM:617178 skos:exactMatch HGNC:28856 Unspecified RNF166 +OMIM:617178 skos:exactMatch HGNC_symbol:RNF166 Unspecified RNF166 +OMIM:617178 skos:exactMatch UMLS:C1538864 Unspecified RNF166 +OMIM:617177 skos:exactMatch HGNC:29825 Unspecified MYL10 +OMIM:617177 skos:exactMatch UMLS:C2681851 Unspecified MYL10 +OMIM:617177 skos:exactMatch HGNC_symbol:MYL10 Unspecified MYL10 +OMIM:617179 skos:exactMatch UMLS:C3541854 Unspecified PANDAR +OMIM:617179 skos:exactMatch HGNC:44048 Unspecified PANDAR +OMIM:617179 skos:exactMatch HGNC_symbol:PANDAR Unspecified PANDAR +OMIM:605190 skos:exactMatch HGNC_symbol:TRAM1 Unspecified TRAM1 +OMIM:605190 skos:exactMatch UMLS:C1427007 Unspecified TRAM1 +OMIM:605190 skos:exactMatch HGNC:20568 Unspecified TRAM1 +OMIM:605191 skos:exactMatch UMLS:C1332452 Unspecified BTAF1 +OMIM:605191 skos:exactMatch HGNC:17307 Unspecified BTAF1 +OMIM:605191 skos:exactMatch HGNC_symbol:BTAF1 Unspecified BTAF1 +OMIM:605194 skos:exactMatch UMLS:C1332788 Unspecified CFC1 +OMIM:605194 skos:exactMatch HGNC:18292 Unspecified CFC1 +OMIM:605194 skos:exactMatch HGNC_symbol:CFC1 Unspecified CFC1 +OMIM:605195 skos:exactMatch HGNC_symbol:MESP2 Unspecified MESP2 +OMIM:605195 skos:exactMatch UMLS:C1837549 Unspecified MESP2 +OMIM:605195 skos:exactMatch UMLS:C1825969 Unspecified MESP2 +OMIM:605195 skos:exactMatch HGNC:29659 Unspecified MESP2 +OMIM:605192 skos:exactMatch UMLS:C1854594 Unspecified deafness, autosomal dominant 23 +OMIM:605193 skos:exactMatch UMLS:C1539291 Unspecified DIRAS3 +OMIM:605193 skos:exactMatch HGNC_symbol:DIRAS3 Unspecified DIRAS3 +OMIM:605193 skos:exactMatch HGNC:687 Unspecified DIRAS3 +OMIM:605198 skos:exactMatch HGNC:16705 Unspecified TENT4A +OMIM:605198 skos:exactMatch UMLS:C1424494 Unspecified TENT4A +OMIM:605198 skos:exactMatch HGNC_symbol:TENT4A Unspecified TENT4A +OMIM:605199 skos:exactMatch HGNC_symbol:SFPQ Unspecified SFPQ +OMIM:605199 skos:exactMatch UMLS:C1419984 Unspecified SFPQ +OMIM:605199 skos:exactMatch HGNC:10774 Unspecified SFPQ +OMIM:605199 skos:exactMatch UMLS:C1854588 Unspecified SFPQ +OMIM:605196 skos:exactMatch UMLS:C1425361 Unspecified COQ3 +OMIM:605196 skos:exactMatch HGNC_symbol:COQ3 Unspecified COQ3 +OMIM:605196 skos:exactMatch HGNC:18175 Unspecified COQ3 +OMIM:605197 skos:exactMatch HGNC:6469 Unspecified KYNU +OMIM:605197 skos:exactMatch HGNC_symbol:KYNU Unspecified KYNU +OMIM:605197 skos:exactMatch UMLS:C1416768 Unspecified KYNU +OMIM:142610 skos:exactMatch HGNC_symbol:GPANK1 Unspecified GPANK1 +OMIM:142610 skos:exactMatch HGNC:13920 Unspecified GPANK1 +OMIM:142610 skos:exactMatch UMLS:C1422272 Unspecified GPANK1 +OMIM:250400 skos:exactMatch UMLS:C0432225 Unspecified metaphyseal dysplasia, spahr iia +OMIM:617161 skos:exactMatch HGNC:28283 Unspecified GSG1L +OMIM:617161 skos:exactMatch HGNC_symbol:GSG1L Unspecified GSG1L +OMIM:617161 skos:exactMatch UMLS:C1825424 Unspecified GSG1L +OMIM:617160 skos:exactMatch HGNC:20685 Unspecified PROM2 +OMIM:617160 skos:exactMatch HGNC_symbol:PROM2 Unspecified PROM2 +OMIM:617160 skos:exactMatch UMLS:C1427076 Unspecified PROM2 +OMIM:617163 skos:exactMatch HGNC:25978 Unspecified RNF186 +OMIM:617163 skos:exactMatch HGNC_symbol:RNF186 Unspecified RNF186 +OMIM:617163 skos:exactMatch UMLS:C1538874 Unspecified RNF186 +OMIM:617162 skos:exactMatch UMLS:C4310687 Unspecified developmental and epileptic encephalopathy 46 +OMIM:617162 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 46 +OMIM:617165 skos:exactMatch HGNC:28651 Unspecified FAM213A +OMIM:617165 skos:exactMatch UMLS:C3470291 Unspecified FAM213A +OMIM:617165 skos:exactMatch HGNC_symbol:PRXL2A Unspecified FAM213A +OMIM:249420 skos:exactMatch UMLS:C1855305 Unspecified frank-ter haar syndrome +OMIM:617164 skos:exactMatch UMLS:C4310686 Unspecified short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay +OMIM:617167 skos:exactMatch UMLS:C3469826 Unspecified SLC35G1 +OMIM:617167 skos:exactMatch HGNC:26607 Unspecified SLC35G1 +OMIM:617167 skos:exactMatch HGNC_symbol:SLC35G1 Unspecified SLC35G1 +OMIM:617166 skos:exactMatch UMLS:C4310685 Unspecified developmental and epileptic encephalopathy 47 +OMIM:617166 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 47 +OMIM:617169 skos:exactMatch UMLS:C4310684 Unspecified intellectual developmental disorder, autosomal recessive 74 +OMIM:617168 skos:exactMatch UMLS:C4284414 Unspecified aortic aneurysm, familial thoracic 10 +OMIM:605180 skos:exactMatch HGNC:13448 Unspecified SLC38A2 +OMIM:605180 skos:exactMatch UMLS:C1422000 Unspecified SLC38A2 +OMIM:605180 skos:exactMatch HGNC_symbol:SLC38A2 Unspecified SLC38A2 +OMIM:605183 skos:exactMatch UMLS:C1425365 Unspecified CALML5 +OMIM:605183 skos:exactMatch HGNC:18180 Unspecified CALML5 +OMIM:605183 skos:exactMatch HGNC_symbol:CALML5 Unspecified CALML5 +OMIM:154600 skos:exactMatch UMLS:C0266521 Unspecified marcus gunn phenomenon +OMIM:605184 skos:exactMatch HGNC:16945 Unspecified PAIP1 +OMIM:605184 skos:exactMatch UMLS:C1424656 Unspecified PAIP1 +OMIM:605184 skos:exactMatch HGNC_symbol:PAIP1 Unspecified PAIP1 +OMIM:605181 skos:exactMatch UMLS:C1427874 Unspecified TM7SF3 +OMIM:605181 skos:exactMatch HGNC:23049 Unspecified TM7SF3 +OMIM:605181 skos:exactMatch HGNC_symbol:TM7SF3 Unspecified TM7SF3 +OMIM:605182 skos:exactMatch UMLS:C1426866 Unspecified RASA3 +OMIM:605182 skos:exactMatch HGNC_symbol:RASA3 Unspecified RASA3 +OMIM:605182 skos:exactMatch HGNC:20331 Unspecified RASA3 +OMIM:605187 skos:exactMatch HGNC_symbol:GPR27 Unspecified GPR27 +OMIM:605187 skos:exactMatch HGNC:4482 Unspecified GPR27 +OMIM:605187 skos:exactMatch UMLS:C1415220 Unspecified GPR27 +OMIM:250410 skos:exactMatch UMLS:C1855188 Unspecified retinitis pigmentosa with or without skeletal anomalies +OMIM:605188 skos:exactMatch HGNC_symbol:GPR85 Unspecified GPR85 +OMIM:605188 skos:exactMatch HGNC:4536 Unspecified GPR85 +OMIM:605188 skos:exactMatch UMLS:C1415266 Unspecified GPR85 +OMIM:605185 skos:exactMatch HGNC:2910 Unspecified DLL4 +OMIM:605185 skos:exactMatch HGNC_symbol:DLL4 Unspecified DLL4 +OMIM:605185 skos:exactMatch UMLS:C4225271 Unspecified DLL4 +OMIM:605185 skos:exactMatch UMLS:C1414072 Unspecified DLL4 +OMIM:142620 skos:exactMatch HGNC:13921 Unspecified ABHD16A +OMIM:142620 skos:exactMatch UMLS:C1422273 Unspecified ABHD16A +OMIM:142620 skos:exactMatch HGNC_symbol:ABHD16A Unspecified ABHD16A +OMIM:605186 skos:exactMatch UMLS:C1425289 Unspecified WIF1 +OMIM:605186 skos:exactMatch HGNC:18081 Unspecified WIF1 +OMIM:605186 skos:exactMatch HGNC_symbol:WIF1 Unspecified WIF1 +OMIM:142622 skos:exactMatch HGNC:5144 Unspecified HPCA +OMIM:142622 skos:exactMatch UMLS:C1333924 Unspecified HPCA +OMIM:142622 skos:exactMatch HGNC_symbol:HPCA Unspecified HPCA +OMIM:142623 skos:exactMatch UMLS:C3888239 Unspecified hirschsprung disease, susceptibility to, 1 +OMIM:142623 skos:exactMatch UMLS:C3888125 Unspecified hirschsprung disease, susceptibility to, 1 +OMIM:605189 skos:exactMatch UMLS:C1414057 Unspecified DKK1 +OMIM:605189 skos:exactMatch HGNC:2891 Unspecified DKK1 +OMIM:605189 skos:exactMatch HGNC_symbol:DKK1 Unspecified DKK1 +OMIM:142625 skos:exactMatch UMLS:C3149452 Unspecified hirsutism, skeletal dysplasia, and mental retardation +OMIM:166600 skos:exactMatch UMLS:C3179239 Unspecified osteopetrosis, autosomal dominant 2 +OMIM:617150 skos:exactMatch HGNC_symbol:ZDHHC3 Unspecified ZDHHC3 +OMIM:617150 skos:exactMatch UMLS:C1425535 Unspecified ZDHHC3 +OMIM:617150 skos:exactMatch HGNC:18470 Unspecified ZDHHC3 +OMIM:617152 skos:exactMatch HGNC:33433 Unspecified SULT6B1 +OMIM:617152 skos:exactMatch UMLS:C2240057 Unspecified SULT6B1 +OMIM:617152 skos:exactMatch HGNC_symbol:SULT6B1 Unspecified SULT6B1 +OMIM:237450 skos:exactMatch UMLS:C0220991 Unspecified hyperbilirubinemia, rotor iia +OMIM:617151 skos:exactMatch HGNC:33543 Unspecified SULT1C3 +OMIM:617151 skos:exactMatch HGNC_symbol:SULT1C3 Unspecified SULT1C3 +OMIM:617151 skos:exactMatch UMLS:C2240055 Unspecified SULT1C3 +OMIM:617154 skos:exactMatch HGNC_symbol:MRNIP Unspecified MRNIP +OMIM:617154 skos:exactMatch UMLS:C2681230 Unspecified MRNIP +OMIM:617154 skos:exactMatch HGNC:30817 Unspecified MRNIP +OMIM:130650 skos:exactMatch ORPHA:116 Unspecified beckwith-wiedemann syndrome +OMIM:130650 skos:exactMatch ORPHA:238613 Unspecified beckwith-wiedemann syndrome +OMIM:130650 skos:exactMatch UMLS:C1851719 Unspecified beckwith-wiedemann syndrome +OMIM:130650 skos:exactMatch UMLS:C0004903 Unspecified beckwith-wiedemann syndrome +OMIM:130650 skos:exactMatch ORPHA:231120 Unspecified beckwith-wiedemann syndrome +OMIM:617153 skos:exactMatch UMLS:C4310691 Unspecified developmental and epileptic encephalopathy 45 +OMIM:617153 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 45 +OMIM:617156 skos:exactMatch UMLS:C4310690 Unspecified mitochondrial DNA depletion syndrome 15 (hepatocerebral type) +OMIM:617155 skos:exactMatch HGNC:18695 Unspecified ST18 +OMIM:617155 skos:exactMatch UMLS:C1425715 Unspecified ST18 +OMIM:617155 skos:exactMatch HGNC_symbol:ST18 Unspecified ST18 +OMIM:617158 skos:exactMatch ORPHA:602 Unspecified myopathy, distal, with rimmed vacuoles +OMIM:617158 skos:exactMatch UMLS:C5399975 Unspecified myopathy, distal, with rimmed vacuoles +OMIM:617157 skos:exactMatch UMLS:C4310689 Unspecified short stature, brachydactyly, impaired intellectual development, and seizures +OMIM:617157 skos:exactMatch ORPHA:464288 Unspecified short stature, brachydactyly, impaired intellectual development, and seizures +OMIM:617159 skos:exactMatch UMLS:C4310688 Unspecified sifrim-hitz-weiss syndrome +OMIM:605172 skos:exactMatch HGNC:9599 Unspecified PTGES +OMIM:605172 skos:exactMatch HGNC_symbol:PTGES Unspecified PTGES +OMIM:605172 skos:exactMatch UMLS:C1419067 Unspecified PTGES +OMIM:605173 skos:exactMatch HGNC_symbol:ENC1 Unspecified ENC1 +OMIM:605173 skos:exactMatch UMLS:C1414398 Unspecified ENC1 +OMIM:605173 skos:exactMatch HGNC:3345 Unspecified ENC1 +OMIM:605170 skos:exactMatch HGNC:13276 Unspecified EI24 +OMIM:605170 skos:exactMatch UMLS:C1421918 Unspecified EI24 +OMIM:605170 skos:exactMatch HGNC_symbol:EI24 Unspecified EI24 +OMIM:605171 skos:exactMatch UMLS:C1426201 Unspecified TP53I3 +OMIM:605171 skos:exactMatch HGNC_symbol:TP53I3 Unspecified TP53I3 +OMIM:605171 skos:exactMatch HGNC:19373 Unspecified TP53I3 +OMIM:605176 skos:exactMatch UMLS:C1415469 Unspecified HAO2 +OMIM:605176 skos:exactMatch HGNC_symbol:HAO2 Unspecified HAO2 +OMIM:605176 skos:exactMatch HGNC:4810 Unspecified HAO2 +OMIM:142630 skos:exactMatch UMLS:C1840586 Unspecified histiocytosis, progressive mucinous +OMIM:605174 skos:exactMatch HGNC_symbol:ADAMTS1 Unspecified ADAMTS1 +OMIM:605174 skos:exactMatch UMLS:C1332018 Unspecified ADAMTS1 +OMIM:605174 skos:exactMatch HGNC:217 Unspecified ADAMTS1 +OMIM:605175 skos:exactMatch HGNC_symbol:ADAMTS8 Unspecified ADAMTS8 +OMIM:605175 skos:exactMatch UMLS:C1412214 Unspecified ADAMTS8 +OMIM:605175 skos:exactMatch HGNC:224 Unspecified ADAMTS8 +OMIM:605178 skos:exactMatch UMLS:C1333661 Unspecified GAS8 +OMIM:605178 skos:exactMatch HGNC_symbol:GAS8 Unspecified GAS8 +OMIM:605178 skos:exactMatch HGNC:4166 Unspecified GAS8 +OMIM:605178 skos:exactMatch UMLS:C4225230 Unspecified GAS8 +OMIM:605179 skos:exactMatch HGNC:1197 Unspecified GAS8AS1 +OMIM:605179 skos:exactMatch HGNC_symbol:GAS8-AS1 Unspecified GAS8AS1 +OMIM:605179 skos:exactMatch UMLS:C1412893 Unspecified GAS8AS1 +OMIM:130660 skos:exactMatch HGNC:19880 Unspecified EMILIN1 +OMIM:130660 skos:exactMatch UMLS:C1366506 Unspecified EMILIN1 +OMIM:130660 skos:exactMatch HGNC_symbol:EMILIN1 Unspecified EMILIN1 +OMIM:617141 skos:exactMatch UMLS:C0344543 Unspecified aniridia 2 +OMIM:617140 skos:exactMatch UMLS:C4310696 Unspecified zttk syndrome +OMIM:617143 skos:exactMatch UMLS:C4310694 Unspecified myasthenic syndrome, congenital, 20, presynaptic +OMIM:617142 skos:exactMatch UMLS:C4310695 Unspecified aniridia 3 +OMIM:249400 skos:exactMatch UMLS:C0544862 Unspecified melanosis, neurocutaneous +OMIM:617145 skos:exactMatch UMLS:C4310693 Unspecified neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset +OMIM:617144 skos:exactMatch HGNC_symbol:MIR4435-2HG Unspecified MIR4435-2HG +OMIM:617144 skos:exactMatch UMLS:C3810893 Unspecified MIR4435-2HG +OMIM:617144 skos:exactMatch HGNC:35163 Unspecified MIR4435-2HG +OMIM:617147 skos:exactMatch HGNC_symbol:CCDC14 Unspecified CCDC14 +OMIM:617147 skos:exactMatch UMLS:C1539072 Unspecified CCDC14 +OMIM:617147 skos:exactMatch HGNC:25766 Unspecified CCDC14 +OMIM:617146 skos:exactMatch UMLS:C4310692 Unspecified arthrogryposis, distal, with impaired proprioception and touch +OMIM:617149 skos:exactMatch UMLS:C1824418 Unspecified FOPNL +OMIM:617149 skos:exactMatch HGNC:26435 Unspecified FOPNL +OMIM:617149 skos:exactMatch HGNC_symbol:CEP20 Unspecified FOPNL +OMIM:617148 skos:exactMatch HGNC_symbol:DEUP1 Unspecified DEUP1 +OMIM:617148 skos:exactMatch UMLS:C1824591 Unspecified DEUP1 +OMIM:617148 skos:exactMatch HGNC:26344 Unspecified DEUP1 +OMIM:617139 skos:exactMatch UMLS:C2681642 Unspecified LGALS7B +OMIM:617139 skos:exactMatch HGNC:34447 Unspecified LGALS7B +OMIM:617139 skos:exactMatch HGNC_symbol:LGALS7B Unspecified LGALS7B +OMIM:605161 skos:exactMatch HGNC_symbol:WFDC5 Unspecified WFDC5 +OMIM:605161 skos:exactMatch HGNC:20477 Unspecified WFDC5 +OMIM:605161 skos:exactMatch UMLS:C1426961 Unspecified WFDC5 +OMIM:605162 skos:exactMatch HGNC_symbol:GADD45GIP1 Unspecified GADD45GIP1 +OMIM:605162 skos:exactMatch UMLS:C1428913 Unspecified GADD45GIP1 +OMIM:605162 skos:exactMatch HGNC:29996 Unspecified GADD45GIP1 +OMIM:605160 skos:exactMatch UMLS:C1854596 Unspecified None +OMIM:142640 skos:exactMatch HGNC:5181 Unspecified HRG +OMIM:142640 skos:exactMatch HGNC_symbol:HRG Unspecified HRG +OMIM:142640 skos:exactMatch UMLS:C1455836 Unspecified HRG +OMIM:605165 skos:exactMatch UMLS:C1854595 Unspecified ZNF278 +OMIM:605165 skos:exactMatch HGNC_symbol:PATZ1 Unspecified ZNF278 +OMIM:605165 skos:exactMatch HGNC:13071 Unspecified ZNF278 +OMIM:605165 skos:exactMatch UMLS:C3151208 Unspecified ZNF278 +OMIM:605165 skos:exactMatch UMLS:C1826545 Unspecified ZNF278 +OMIM:605166 skos:exactMatch HGNC:4854 Unspecified HDAC3 +OMIM:605166 skos:exactMatch UMLS:C1366355 Unspecified HDAC3 +OMIM:605166 skos:exactMatch HGNC_symbol:HDAC3 Unspecified HDAC3 +OMIM:605163 skos:exactMatch HGNC:16647 Unspecified CXCR6 +OMIM:605163 skos:exactMatch UMLS:C1332824 Unspecified CXCR6 +OMIM:605163 skos:exactMatch HGNC_symbol:CXCR6 Unspecified CXCR6 +OMIM:605164 skos:exactMatch HGNC:4853 Unspecified HDAC2 +OMIM:605164 skos:exactMatch UMLS:C1333892 Unspecified HDAC2 +OMIM:605164 skos:exactMatch HGNC_symbol:HDAC2 Unspecified HDAC2 +OMIM:139000 skos:exactMatch UMLS:C0263471 Unspecified granulosis rubra nasi +OMIM:605169 skos:exactMatch HGNC:3320 Unspecified ELF5 +OMIM:605169 skos:exactMatch HGNC_symbol:ELF5 Unspecified ELF5 +OMIM:605169 skos:exactMatch UMLS:C1414378 Unspecified ELF5 +OMIM:605167 skos:exactMatch HGNC_symbol:BAGE Unspecified BAGE +OMIM:605167 skos:exactMatch HGNC:942 Unspecified BAGE +OMIM:605167 skos:exactMatch UMLS:C1412732 Unspecified BAGE +OMIM:605168 skos:exactMatch HGNC:3560 Unspecified FABP5 +OMIM:605168 skos:exactMatch HGNC_symbol:FABP5 Unspecified FABP5 +OMIM:605168 skos:exactMatch UMLS:C1333528 Unspecified FABP5 +OMIM:225400 skos:exactMatch UMLS:C0268342 Unspecified ehlers-danlos syndrome, kyphoscoliotic type, 1 +OMIM:178600 skos:exactMatch UMLS:C3714844 Unspecified pulmonary hypertension, primary, 1 +OMIM:178600 skos:exactMatch UMLS:C1969342 Unspecified pulmonary hypertension, primary, 1 +OMIM:178600 skos:exactMatch UMLS:C1969343 Unspecified pulmonary hypertension, primary, 1 +OMIM:178600 skos:exactMatch UMLS:C4552070 Unspecified pulmonary hypertension, primary, 1 +OMIM:178600 skos:exactMatch UMLS:C3203102 Unspecified pulmonary hypertension, primary, 1 +OMIM:140000 skos:exactMatch UMLS:C1841679 Unspecified hand-foot-genital syndrome +OMIM:140000 skos:exactMatch ORPHA:2438 Unspecified hand-foot-genital syndrome +OMIM:142660 skos:exactMatch UMLS:C1840583 Unspecified hexosaminidase c +OMIM:142669 skos:exactMatch UMLS:C1840572 Unspecified beukes hip dysplasia +OMIM:617190 skos:exactMatch UMLS:C4310672 Unspecified shashi-pena syndrome +OMIM:617192 skos:exactMatch UMLS:C2239369 Unspecified EEPD1 +OMIM:617192 skos:exactMatch HGNC:22223 Unspecified EEPD1 +OMIM:617192 skos:exactMatch HGNC_symbol:EEPD1 Unspecified EEPD1 +OMIM:617191 skos:exactMatch HGNC_symbol:PICSAR Unspecified PICSAR +OMIM:617191 skos:exactMatch HGNC:19725 Unspecified PICSAR +OMIM:617191 skos:exactMatch UMLS:C1426363 Unspecified PICSAR +OMIM:311900 skos:exactMatch ORPHA:2886 Unspecified tarp syndrome +OMIM:311900 skos:exactMatch UMLS:C1839463 Unspecified tarp syndrome +OMIM:617194 skos:exactMatch UMLS:C4310670 Unspecified lethal congenital contracture syndrome 11 +OMIM:617193 skos:exactMatch ORPHA:496641 Unspecified encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum +OMIM:617193 skos:exactMatch UMLS:C4310671 Unspecified encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum +OMIM:617196 skos:exactMatch HGNC_symbol:TMC3 Unspecified TMC3 +OMIM:617196 skos:exactMatch HGNC:22995 Unspecified TMC3 +OMIM:617196 skos:exactMatch UMLS:C1427845 Unspecified TMC3 +OMIM:617195 skos:exactMatch HGNC_symbol:MUSTN1 Unspecified MUSTN1 +OMIM:617195 skos:exactMatch HGNC:22144 Unspecified MUSTN1 +OMIM:617195 skos:exactMatch UMLS:C1427756 Unspecified MUSTN1 +OMIM:617198 skos:exactMatch HGNC_symbol:TMC7 Unspecified TMC7 +OMIM:617198 skos:exactMatch HGNC:23000 Unspecified TMC7 +OMIM:617198 skos:exactMatch UMLS:C1427849 Unspecified TMC7 +OMIM:617197 skos:exactMatch HGNC_symbol:TMC5 Unspecified TMC5 +OMIM:617197 skos:exactMatch HGNC:22999 Unspecified TMC5 +OMIM:617197 skos:exactMatch UMLS:C1427848 Unspecified TMC5 +OMIM:617199 skos:exactMatch HGNC_symbol:NSUN6 Unspecified NSUN6 +OMIM:617199 skos:exactMatch UMLS:C1538493 Unspecified NSUN6 +OMIM:617199 skos:exactMatch HGNC:23529 Unspecified NSUN6 +OMIM:201450 skos:exactMatch UMLS:C0220710 Unspecified acyl-coa dehydrogenase, medium-chain, deficiency of +OMIM:178620 skos:exactMatch HGNC:10802 Unspecified SFTPC +OMIM:178620 skos:exactMatch HGNC_symbol:SFTPC Unspecified SFTPC +OMIM:178620 skos:exactMatch UMLS:C1442758 Unspecified SFTPC +OMIM:237400 skos:exactMatch UMLS:C0268630 Unspecified hyper-beta-alaninemia +OMIM:617181 skos:exactMatch HGNC:22998 Unspecified TMC4 +OMIM:617181 skos:exactMatch UMLS:C1427847 Unspecified TMC4 +OMIM:617181 skos:exactMatch HGNC_symbol:TMC4 Unspecified TMC4 +OMIM:617180 skos:exactMatch UMLS:C4310679 Unspecified chitayat syndrome +OMIM:617183 skos:exactMatch UMLS:C4310677 Unspecified harel-yoon syndrome +OMIM:617183 skos:exactMatch ORPHA:496790 Unspecified harel-yoon syndrome +OMIM:617182 skos:exactMatch UMLS:C4310678 Unspecified language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia +OMIM:617185 skos:exactMatch HGNC_symbol:NSUN7 Unspecified NSUN7 +OMIM:617185 skos:exactMatch HGNC:25857 Unspecified NSUN7 +OMIM:617185 skos:exactMatch UMLS:C1826477 Unspecified NSUN7 +OMIM:617184 skos:exactMatch UMLS:C4310676 Unspecified mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant +OMIM:617187 skos:exactMatch UMLS:C4310674 Unspecified spermatogenic failure 16 +OMIM:617186 skos:exactMatch UMLS:C4310675 Unspecified encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 +OMIM:225410 skos:exactMatch UMLS:C2700425 Unspecified ehlers-danlos syndrome, dermatosparaxis iia +OMIM:617189 skos:exactMatch UMLS:C1823372 Unspecified TMEM110 +OMIM:617189 skos:exactMatch HGNC:30526 Unspecified TMEM110 +OMIM:617189 skos:exactMatch HGNC_symbol:STIMATE Unspecified TMEM110 +OMIM:617188 skos:exactMatch UMLS:C4310673 Unspecified intellectual developmental disorder, autosomal recessive 57 +OMIM:201470 skos:exactMatch UMLS:C0342783 Unspecified acyl-coa dehydrogenase, short-chain, deficiency of +OMIM:142680 skos:exactMatch UMLS:C1275126 Unspecified periodic fever, familial, autosomal dominant +OMIM:142680 skos:exactMatch ORPHA:32960 Unspecified periodic fever, familial, autosomal dominant +OMIM:178610 skos:exactMatch UMLS:C1867419 Unspecified pulmonary nodular lymphoid hyperplasia, familial +OMIM:130590 skos:exactMatch HGNC:3189 Unspecified EEF1A1 +OMIM:130590 skos:exactMatch HGNC_symbol:EEF1A1 Unspecified EEF1A1 +OMIM:130590 skos:exactMatch UMLS:C1414270 Unspecified EEF1A1 +OMIM:130592 skos:exactMatch HGNC_symbol:EEF1D Unspecified EEF1D +OMIM:130592 skos:exactMatch HGNC:3211 Unspecified EEF1D +OMIM:130592 skos:exactMatch UMLS:C1414292 Unspecified EEF1D +OMIM:130593 skos:exactMatch HGNC_symbol:EEF1G Unspecified EEF1G +OMIM:130593 skos:exactMatch HGNC:3213 Unspecified EEF1G +OMIM:130593 skos:exactMatch UMLS:C1414294 Unspecified EEF1G +OMIM:191500 skos:exactMatch UMLS:C1860604 Unspecified undritz anomaly +OMIM:142570 skos:exactMatch HGNC_symbol:HK3 Unspecified HK3 +OMIM:142570 skos:exactMatch HGNC:4925 Unspecified HK3 +OMIM:142570 skos:exactMatch UMLS:C1415556 Unspecified HK3 +OMIM:154550 skos:exactMatch HGNC_symbol:MPI Unspecified MPI +OMIM:154550 skos:exactMatch HGNC:7216 Unspecified MPI +OMIM:154550 skos:exactMatch UMLS:C1417244 Unspecified MPI +OMIM:115080 skos:exactMatch UMLS:C0264886 Unspecified cardiac conduction defect +OMIM:115080 skos:exactMatch UMLS:C0085298 Unspecified cardiac conduction defect +OMIM:115080 skos:exactMatch UMLS:C1861884 Unspecified cardiac conduction defect +OMIM:191510 skos:exactMatch HGNC_symbol:CSDE1 Unspecified CSDE1 +OMIM:191510 skos:exactMatch UMLS:C1824805 Unspecified CSDE1 +OMIM:191510 skos:exactMatch HGNC:29905 Unspecified CSDE1 +OMIM:201400 skos:exactMatch UMLS:C0271583 Unspecified acth deficiency, isolated +OMIM:142580 skos:exactMatch HGNC:13918 Unspecified PRRC2A +OMIM:142580 skos:exactMatch UMLS:C1422270 Unspecified PRRC2A +OMIM:142580 skos:exactMatch HGNC_symbol:PRRC2A Unspecified PRRC2A +OMIM:103070 skos:exactMatch HGNC_symbol:ADCY8 Unspecified ADCY8 +OMIM:103070 skos:exactMatch HGNC:239 Unspecified ADCY8 +OMIM:103070 skos:exactMatch UMLS:C1412227 Unspecified ADCY8 +OMIM:103071 skos:exactMatch HGNC_symbol:ADCY2 Unspecified ADCY2 +OMIM:103071 skos:exactMatch HGNC:233 Unspecified ADCY2 +OMIM:103071 skos:exactMatch UMLS:C1412221 Unspecified ADCY2 +OMIM:103072 skos:exactMatch HGNC_symbol:ADCY1 Unspecified ADCY1 +OMIM:103072 skos:exactMatch HGNC:232 Unspecified ADCY1 +OMIM:103072 skos:exactMatch UMLS:C1412220 Unspecified ADCY1 +OMIM:142590 skos:exactMatch HGNC:13919 Unspecified BAG6 +OMIM:142590 skos:exactMatch UMLS:C1422271 Unspecified BAG6 +OMIM:142590 skos:exactMatch HGNC_symbol:BAG6 Unspecified BAG6 +OMIM:154570 skos:exactMatch UMLS:C1835134 Unspecified mannose 6-phosphate receptor recognition defect, lebanese iia +OMIM:154582 skos:exactMatch HGNC:6824 Unspecified MAN2A1 +OMIM:154582 skos:exactMatch HGNC_symbol:MAN2A1 Unspecified MAN2A1 +OMIM:154582 skos:exactMatch UMLS:C1416995 Unspecified MAN2A1 +OMIM:154580 skos:exactMatch HGNC:6827 Unspecified MAN2C1 +OMIM:154580 skos:exactMatch HGNC_symbol:MAN2C1 Unspecified MAN2C1 +OMIM:154580 skos:exactMatch UMLS:C1416998 Unspecified MAN2C1 +OMIM:213400 skos:exactMatch UMLS:C3489626 Unspecified dyssynergia cerebellaris myoclonica of hunt +OMIM:103050 skos:exactMatch UMLS:C0268126 Unspecified adenylosuccinase deficiency +OMIM:191540 skos:exactMatch HGNC:12575 Unspecified urate oxidase, pseudogene +OMIM:191540 skos:exactMatch HGNC_symbol:UOX Unspecified urate oxidase, pseudogene +OMIM:191540 skos:exactMatch UMLS:C3887994 Unspecified urate oxidase, pseudogene +OMIM:103060 skos:exactMatch HGNC:292 Unspecified ADSS +OMIM:103060 skos:exactMatch HGNC_symbol:ADSS2 Unspecified ADSS +OMIM:103060 skos:exactMatch UMLS:C1412263 Unspecified ADSS +OMIM:191550 skos:exactMatch UMLS:C1860586 Unspecified ureter, bifid or double +OMIM:178550 skos:exactMatch UMLS:C0020807 Unspecified pulmonary hemosiderosis +OMIM:191525 skos:exactMatch HGNC_symbol:UNG Unspecified UNG +OMIM:191525 skos:exactMatch HGNC:12572 Unspecified UNG +OMIM:191525 skos:exactMatch UMLS:C1421361 Unspecified UNG +OMIM:191523 skos:exactMatch HGNC:12593 Unspecified USF1 +OMIM:191523 skos:exactMatch UMLS:C1421376 Unspecified USF1 +OMIM:191523 skos:exactMatch HGNC_symbol:USF1 Unspecified USF1 +OMIM:103030 skos:exactMatch UMLS:C1424944 Unspecified AK4 +OMIM:103030 skos:exactMatch HGNC_symbol:AK4 Unspecified AK4 +OMIM:103030 skos:exactMatch HGNC:363 Unspecified AK4 +OMIM:127000 skos:exactMatch UMLS:C4316787 Unspecified kenny-caffey syndrome, iia 2 +OMIM:191520 skos:exactMatch UMLS:C1860596 Unspecified upington disease +OMIM:115000 skos:exactMatch UMLS:C0003811 Unspecified ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +OMIM:191530 skos:exactMatch UMLS:C1860587 Unspecified urate-binding globulin, decrease 1n +OMIM:103000 skos:exactMatch HGNC:361 Unspecified AK1 +OMIM:103000 skos:exactMatch HGNC_symbol:AK1 Unspecified AK1 +OMIM:103000 skos:exactMatch UMLS:C1412305 Unspecified AK1 +OMIM:103020 skos:exactMatch HGNC_symbol:AK2 Unspecified AK2 +OMIM:103020 skos:exactMatch UMLS:C1412306 Unspecified AK2 +OMIM:103020 skos:exactMatch HGNC:362 Unspecified AK2 +OMIM:117650 skos:exactMatch UMLS:C0265342 Unspecified cerebrocostomandibular syndrome +OMIM:308380 skos:exactMatch UMLS:C1334116 Unspecified IL2RG +OMIM:308380 skos:exactMatch HGNC:6010 Unspecified IL2RG +OMIM:308380 skos:exactMatch HGNC_symbol:IL2RG Unspecified IL2RG +OMIM:308385 skos:exactMatch HGNC:6012 Unspecified IL3RA +OMIM:308385 skos:exactMatch HGNC_symbol:IL3RA Unspecified IL3RA +OMIM:308385 skos:exactMatch UMLS:C1416408 Unspecified IL3RA +OMIM:129600 skos:exactMatch UMLS:C3541518 Unspecified ectopia lentis 1, isolated, autosomal dominant +OMIM:105650 skos:exactMatch UMLS:C2676137 Unspecified diamond-blackfan anemia 1 +OMIM:607726 skos:exactMatch HGNC_symbol:PARP3 Unspecified PARP3 +OMIM:607726 skos:exactMatch HGNC:273 Unspecified PARP3 +OMIM:607726 skos:exactMatch UMLS:C1538581 Unspecified PARP3 +OMIM:607725 skos:exactMatch HGNC:272 Unspecified PARP2 +OMIM:607725 skos:exactMatch HGNC_symbol:PARP2 Unspecified PARP2 +OMIM:607725 skos:exactMatch UMLS:C1538580 Unspecified PARP2 +OMIM:607724 skos:exactMatch HGNC_symbol:CAPS2 Unspecified CAPS2 +OMIM:607724 skos:exactMatch HGNC:16471 Unspecified CAPS2 +OMIM:607724 skos:exactMatch UMLS:C1424306 Unspecified CAPS2 +OMIM:607723 skos:exactMatch HGNC:18587 Unspecified SUN1 +OMIM:607723 skos:exactMatch UMLS:C1425625 Unspecified SUN1 +OMIM:607723 skos:exactMatch HGNC_symbol:SUN1 Unspecified SUN1 +OMIM:607729 skos:exactMatch HGNC_symbol:DDIT4 Unspecified DDIT4 +OMIM:607729 skos:exactMatch HGNC:24944 Unspecified DDIT4 +OMIM:607729 skos:exactMatch UMLS:C1428430 Unspecified DDIT4 +OMIM:607728 skos:exactMatch UMLS:C1843180 Unspecified porokeratosis 4, disseminated superficial actinic iia +OMIM:607727 skos:exactMatch HGNC_symbol:CAND1 Unspecified CAND1 +OMIM:607727 skos:exactMatch UMLS:C1824525 Unspecified CAND1 +OMIM:607727 skos:exactMatch HGNC:30688 Unspecified CAND1 +OMIM:619711 skos:exactMatch HGNC:16668 Unspecified C19ORF33 +OMIM:619711 skos:exactMatch HGNC_symbol:C19orf33 Unspecified C19ORF33 +OMIM:619710 skos:exactMatch HGNC:31357 Unspecified HAPLN4 +OMIM:619710 skos:exactMatch HGNC_symbol:HAPLN4 Unspecified HAPLN4 +OMIM:619704 skos:exactMatch HGNC:29528 Unspecified ZC3H15 +OMIM:619704 skos:exactMatch HGNC_symbol:ZC3H15 Unspecified ZC3H15 +OMIM:619703 skos:exactMatch HGNC_symbol:CIROP Unspecified CIROP +OMIM:619703 skos:exactMatch HGNC:53647 Unspecified CIROP +OMIM:619709 skos:exactMatch HGNC:1314 Unspecified KIAA0930 +OMIM:619709 skos:exactMatch HGNC_symbol:KIAA0930 Unspecified KIAA0930 +OMIM:619706 skos:exactMatch HGNC_symbol:LRRN4 Unspecified LRRN4 +OMIM:619706 skos:exactMatch HGNC:16208 Unspecified LRRN4 +OMIM:607733 skos:exactMatch HGNC:30377 Unspecified SCRIB +OMIM:607733 skos:exactMatch HGNC_symbol:SCRIB Unspecified SCRIB +OMIM:607733 skos:exactMatch UMLS:C1539732 Unspecified SCRIB +OMIM:607732 skos:exactMatch UMLS:C1424724 Unspecified SARM1 +OMIM:607732 skos:exactMatch HGNC:17074 Unspecified SARM1 +OMIM:607732 skos:exactMatch HGNC_symbol:SARM1 Unspecified SARM1 +OMIM:607731 skos:exactMatch UMLS:C1843173 Unspecified charcot-marie-tooth disease, axonal, iia 2h +OMIM:607730 skos:exactMatch UMLS:C1428982 Unspecified DDIT4L +OMIM:607730 skos:exactMatch HGNC:30555 Unspecified DDIT4L +OMIM:607730 skos:exactMatch HGNC_symbol:DDIT4L Unspecified DDIT4L +OMIM:607715 skos:exactMatch UMLS:C1540073 Unspecified TSC22D1 +OMIM:607715 skos:exactMatch HGNC:16826 Unspecified TSC22D1 +OMIM:607715 skos:exactMatch HGNC_symbol:TSC22D1 Unspecified TSC22D1 +OMIM:607714 skos:exactMatch HGNC:16903 Unspecified TNIP1 +OMIM:607714 skos:exactMatch HGNC_symbol:TNIP1 Unspecified TNIP1 +OMIM:607714 skos:exactMatch UMLS:C1424624 Unspecified TNIP1 +OMIM:607713 skos:exactMatch UMLS:C1825295 Unspecified None +OMIM:607713 skos:exactMatch HGNC:29451 Unspecified None +OMIM:607713 skos:exactMatch HGNC_symbol:FGFBP2 Unspecified None +OMIM:607712 skos:exactMatch HGNC:18595 Unspecified HIC2 +OMIM:607712 skos:exactMatch UMLS:C1425633 Unspecified HIC2 +OMIM:607712 skos:exactMatch HGNC_symbol:HIC2 Unspecified HIC2 +OMIM:607719 skos:exactMatch HGNC:19264 Unspecified SYT8 +OMIM:607719 skos:exactMatch HGNC_symbol:SYT8 Unspecified SYT8 +OMIM:607719 skos:exactMatch UMLS:C1426129 Unspecified SYT8 +OMIM:607718 skos:exactMatch HGNC_symbol:SYT6 Unspecified SYT6 +OMIM:607718 skos:exactMatch HGNC:18638 Unspecified SYT6 +OMIM:607718 skos:exactMatch UMLS:C1425668 Unspecified SYT6 +OMIM:607717 skos:exactMatch HGNC:19737 Unspecified TNS2 +OMIM:607717 skos:exactMatch UMLS:C1426374 Unspecified TNS2 +OMIM:607717 skos:exactMatch HGNC_symbol:TNS2 Unspecified TNS2 +OMIM:607716 skos:exactMatch HGNC_symbol:SYT13 Unspecified SYT13 +OMIM:607716 skos:exactMatch HGNC:14962 Unspecified SYT13 +OMIM:607716 skos:exactMatch UMLS:C1423090 Unspecified SYT13 +OMIM:117600 skos:exactMatch UMLS:C1861714 Unspecified cerebral sarcoma +OMIM:619700 skos:exactMatch HGNC_symbol:C1orf127 Unspecified C1ORF127 +OMIM:619700 skos:exactMatch HGNC:26730 Unspecified C1ORF127 +OMIM:607722 skos:exactMatch HGNC_symbol:EMC2 Unspecified EMC2 +OMIM:607722 skos:exactMatch UMLS:C1823539 Unspecified EMC2 +OMIM:607722 skos:exactMatch HGNC:28963 Unspecified EMC2 +OMIM:607721 skos:exactMatch ORPHA:2701 Unspecified noonan syndrome-like disorder with loose anagen hair 1 +OMIM:607721 skos:exactMatch UMLS:C1843181 Unspecified noonan syndrome-like disorder with loose anagen hair 1 +OMIM:607721 skos:exactMatch UMLS:C4478716 Unspecified noonan syndrome-like disorder with loose anagen hair 1 +OMIM:607720 skos:exactMatch HGNC_symbol:TSNAXIP1 Unspecified TSNAXIP1 +OMIM:607720 skos:exactMatch UMLS:C1425624 Unspecified TSNAXIP1 +OMIM:607720 skos:exactMatch HGNC:18586 Unspecified TSNAXIP1 +OMIM:607704 skos:exactMatch HGNC:19309 Unspecified KANK1 +OMIM:607704 skos:exactMatch UMLS:C1426156 Unspecified KANK1 +OMIM:607704 skos:exactMatch HGNC_symbol:KANK1 Unspecified KANK1 +OMIM:607703 skos:exactMatch UMLS:C1538503 Unspecified NUP210 +OMIM:607703 skos:exactMatch HGNC_symbol:NUP210 Unspecified NUP210 +OMIM:607703 skos:exactMatch HGNC:30052 Unspecified NUP210 +OMIM:607702 skos:exactMatch HGNC_symbol:TCIM Unspecified TCIM +OMIM:607702 skos:exactMatch HGNC:1357 Unspecified TCIM +OMIM:607702 skos:exactMatch UMLS:C1413028 Unspecified TCIM +OMIM:607701 skos:exactMatch HGNC_symbol:KLHL41 Unspecified KLHL41 +OMIM:607701 skos:exactMatch HGNC:16905 Unspecified KLHL41 +OMIM:607701 skos:exactMatch UMLS:C1424626 Unspecified KLHL41 +OMIM:607708 skos:exactMatch HGNC_symbol:CAMK2D Unspecified CAMK2D +OMIM:607708 skos:exactMatch HGNC:1462 Unspecified CAMK2D +OMIM:607708 skos:exactMatch UMLS:C1413101 Unspecified CAMK2D +OMIM:607707 skos:exactMatch HGNC_symbol:CAMK2B Unspecified CAMK2B +OMIM:607707 skos:exactMatch HGNC:1461 Unspecified CAMK2B +OMIM:607707 skos:exactMatch UMLS:C1413100 Unspecified CAMK2B +OMIM:607707 skos:exactMatch UMLS:C4540484 Unspecified CAMK2B +OMIM:607706 skos:exactMatch UMLS:C1843183 Unspecified charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive +OMIM:607705 skos:exactMatch HGNC_symbol:PSME4 Unspecified PSME4 +OMIM:607705 skos:exactMatch UMLS:C1427045 Unspecified PSME4 +OMIM:607705 skos:exactMatch HGNC:20635 Unspecified PSME4 +OMIM:607709 skos:exactMatch HGNC:11828 Unspecified TJP2 +OMIM:607709 skos:exactMatch UMLS:C1420745 Unspecified TJP2 +OMIM:607709 skos:exactMatch HGNC_symbol:TJP2 Unspecified TJP2 +OMIM:105600 skos:exactMatch UMLS:C0271934 Unspecified anemia, congenital dyserythropoietic, iia iiia +OMIM:607711 skos:exactMatch HGNC:17217 Unspecified DIP2A +OMIM:607711 skos:exactMatch UMLS:C1824937 Unspecified DIP2A +OMIM:607711 skos:exactMatch HGNC_symbol:DIP2A Unspecified DIP2A +OMIM:607710 skos:exactMatch UMLS:C1428413 Unspecified FAM189A2 +OMIM:607710 skos:exactMatch HGNC_symbol:FAM189A2 Unspecified FAM189A2 +OMIM:607710 skos:exactMatch HGNC:24820 Unspecified FAM189A2 +OMIM:607700 skos:exactMatch HGNC:16867 Unspecified RNF40 +OMIM:607700 skos:exactMatch UMLS:C1424605 Unspecified RNF40 +OMIM:607700 skos:exactMatch HGNC_symbol:RNF40 Unspecified RNF40 +OMIM:605228 skos:exactMatch HGNC_symbol:CIR1 Unspecified CIR1 +OMIM:605228 skos:exactMatch HGNC:24217 Unspecified CIR1 +OMIM:605228 skos:exactMatch UMLS:C1854572 Unspecified CIR1 +OMIM:605229 skos:exactMatch UMLS:C1854568 Unspecified spastic paraplegia 14, autosomal recessive +OMIM:607889 skos:exactMatch UMLS:C1426066 Unspecified CMTM6 +OMIM:607889 skos:exactMatch HGNC:19177 Unspecified CMTM6 +OMIM:607889 skos:exactMatch HGNC_symbol:CMTM6 Unspecified CMTM6 +OMIM:605226 skos:exactMatch HGNC:9965 Unspecified RERE +OMIM:605226 skos:exactMatch HGNC_symbol:RERE Unspecified RERE +OMIM:605226 skos:exactMatch UMLS:C1419345 Unspecified RERE +OMIM:607888 skos:exactMatch UMLS:C1426065 Unspecified CMTM5 +OMIM:607888 skos:exactMatch HGNC_symbol:CMTM5 Unspecified CMTM5 +OMIM:607888 skos:exactMatch HGNC:19176 Unspecified CMTM5 +OMIM:605227 skos:exactMatch HGNC_symbol:RECK Unspecified RECK +OMIM:605227 skos:exactMatch HGNC:11345 Unspecified RECK +OMIM:605227 skos:exactMatch UMLS:C1420441 Unspecified RECK +OMIM:617211 skos:exactMatch HGNC_symbol:DMKN Unspecified DMKN +OMIM:617211 skos:exactMatch HGNC:25063 Unspecified DMKN +OMIM:617211 skos:exactMatch UMLS:C1824943 Unspecified DMKN +OMIM:617210 skos:exactMatch HGNC:25068 Unspecified GATC +OMIM:617210 skos:exactMatch UMLS:C5394237 Unspecified GATC +OMIM:617210 skos:exactMatch UMLS:C2239482 Unspecified GATC +OMIM:617210 skos:exactMatch HGNC_symbol:GATC Unspecified GATC +OMIM:617213 skos:exactMatch UMLS:C1291373 Unspecified sedoheptulokinase deficiency +OMIM:617212 skos:exactMatch UMLS:C1424178 Unspecified KRTDAP +OMIM:617212 skos:exactMatch HGNC:16313 Unspecified KRTDAP +OMIM:617212 skos:exactMatch HGNC_symbol:KRTDAP Unspecified KRTDAP +OMIM:617215 skos:exactMatch HGNC:28737 Unspecified C17ORF49 +OMIM:617215 skos:exactMatch HGNC_symbol:C17orf49 Unspecified C17ORF49 +OMIM:617215 skos:exactMatch UMLS:C1824441 Unspecified C17ORF49 +OMIM:617214 skos:exactMatch UMLS:C4310666 Unspecified spermatogenic failure 17 +OMIM:617206 skos:exactMatch HGNC:25162 Unspecified NEURL3 +OMIM:617206 skos:exactMatch UMLS:C2681898 Unspecified NEURL3 +OMIM:617206 skos:exactMatch HGNC_symbol:NEURL3 Unspecified NEURL3 +OMIM:617205 skos:exactMatch UMLS:C4310668 Unspecified heterotaxy, visceral, 8, autosomal +OMIM:617208 skos:exactMatch UMLS:C1825940 Unspecified MAMDC4 +OMIM:617208 skos:exactMatch HGNC:24083 Unspecified MAMDC4 +OMIM:617208 skos:exactMatch HGNC_symbol:MAMDC4 Unspecified MAMDC4 +OMIM:617207 skos:exactMatch UMLS:C4310667 Unspecified encephalopathy, progressive, with amyotrophy and optic atrophy +OMIM:607890 skos:exactMatch HGNC:19178 Unspecified CMTM7 +OMIM:607890 skos:exactMatch HGNC_symbol:CMTM7 Unspecified CMTM7 +OMIM:607890 skos:exactMatch UMLS:C1426067 Unspecified CMTM7 +OMIM:617209 skos:exactMatch HGNC:21020 Unspecified QRSL1 +OMIM:617209 skos:exactMatch UMLS:C1427248 Unspecified QRSL1 +OMIM:617209 skos:exactMatch HGNC_symbol:QRSL1 Unspecified QRSL1 +OMIM:617209 skos:exactMatch UMLS:C5394232 Unspecified QRSL1 +OMIM:605231 skos:exactMatch UMLS:C1858054 Unspecified bardet-biedl syndrome 6 +OMIM:308200 skos:exactMatch ORPHA:431 Unspecified ichthyosis and male hypogonadism +OMIM:308200 skos:exactMatch UMLS:C1839989 Unspecified ichthyosis and male hypogonadism +OMIM:607894 skos:exactMatch HGNC:21715 Unspecified PKD1L2 +OMIM:607894 skos:exactMatch UMLS:C1427712 Unspecified PKD1L2 +OMIM:607894 skos:exactMatch HGNC_symbol:PKD1L2 Unspecified PKD1L2 +OMIM:605232 skos:exactMatch HGNC:14540 Unspecified WNK1 +OMIM:605232 skos:exactMatch UMLS:C1538110 Unspecified WNK1 +OMIM:605232 skos:exactMatch HGNC_symbol:WNK1 Unspecified WNK1 +OMIM:607893 skos:exactMatch UMLS:C2675601 Unspecified ovarian cancer, susceptibility to, 1 +OMIM:607892 skos:exactMatch HGNC_symbol:DSG4 Unspecified DSG4 +OMIM:607892 skos:exactMatch HGNC:21307 Unspecified DSG4 +OMIM:607892 skos:exactMatch UMLS:C1427484 Unspecified DSG4 +OMIM:605230 skos:exactMatch HGNC_symbol:TP53BP1 Unspecified TP53BP1 +OMIM:605230 skos:exactMatch HGNC:11999 Unspecified TP53BP1 +OMIM:605230 skos:exactMatch UMLS:C1420865 Unspecified TP53BP1 +OMIM:607891 skos:exactMatch HGNC_symbol:CMTM8 Unspecified CMTM8 +OMIM:607891 skos:exactMatch HGNC:19179 Unspecified CMTM8 +OMIM:607891 skos:exactMatch UMLS:C1426068 Unspecified CMTM8 +OMIM:607898 skos:exactMatch UMLS:C1540055 Unspecified TRIB3 +OMIM:607898 skos:exactMatch HGNC_symbol:TRIB3 Unspecified TRIB3 +OMIM:607898 skos:exactMatch HGNC:16228 Unspecified TRIB3 +OMIM:605235 skos:exactMatch HGNC:7869 Unspecified NOL3 +OMIM:605235 skos:exactMatch UMLS:C1417756 Unspecified NOL3 +OMIM:605235 skos:exactMatch UMLS:C1854562 Unspecified NOL3 +OMIM:605235 skos:exactMatch HGNC_symbol:NOL3 Unspecified NOL3 +OMIM:605236 skos:exactMatch HGNC_symbol:CORIN Unspecified CORIN +OMIM:605236 skos:exactMatch UMLS:C1539125 Unspecified CORIN +OMIM:605236 skos:exactMatch HGNC:19012 Unspecified CORIN +OMIM:607897 skos:exactMatch HGNC_symbol:MSI2 Unspecified MSI2 +OMIM:607897 skos:exactMatch UMLS:C1425623 Unspecified MSI2 +OMIM:607897 skos:exactMatch HGNC:18585 Unspecified MSI2 +OMIM:607896 skos:exactMatch HGNC:24203 Unspecified OVCA2 +OMIM:607896 skos:exactMatch HGNC_symbol:OVCA2 Unspecified OVCA2 +OMIM:607896 skos:exactMatch UMLS:C1842848 Unspecified OVCA2 +OMIM:605233 skos:exactMatch UMLS:C2931071 Unspecified dianzani autoimmune lymphoproliferative disease +OMIM:607895 skos:exactMatch HGNC_symbol:PKD1L3 Unspecified PKD1L3 +OMIM:607895 skos:exactMatch HGNC:21716 Unspecified PKD1L3 +OMIM:607895 skos:exactMatch UMLS:C1427713 Unspecified PKD1L3 +OMIM:605234 skos:exactMatch HGNC_symbol:VN1R1 Unspecified VN1R1 +OMIM:605234 skos:exactMatch HGNC:13548 Unspecified VN1R1 +OMIM:605234 skos:exactMatch UMLS:C1422056 Unspecified VN1R1 +OMIM:605217 skos:exactMatch UMLS:C1428905 Unspecified SHC2 +OMIM:605217 skos:exactMatch HGNC:29869 Unspecified SHC2 +OMIM:605217 skos:exactMatch HGNC_symbol:SHC2 Unspecified SHC2 +OMIM:605218 skos:exactMatch UMLS:C1854577 Unspecified systemic lupus erythematosus, susceptibility to, 2 +OMIM:607879 skos:exactMatch UMLS:C1428970 Unspecified EXOC1 +OMIM:607879 skos:exactMatch HGNC:30380 Unspecified EXOC1 +OMIM:607879 skos:exactMatch HGNC_symbol:EXOC1 Unspecified EXOC1 +OMIM:607878 skos:exactMatch HGNC_symbol:NNT Unspecified NNT +OMIM:607878 skos:exactMatch HGNC:7863 Unspecified NNT +OMIM:607878 skos:exactMatch UMLS:C1417750 Unspecified NNT +OMIM:605215 skos:exactMatch HGNC_symbol:SKAP2 Unspecified SKAP2 +OMIM:605215 skos:exactMatch HGNC:15687 Unspecified SKAP2 +OMIM:605215 skos:exactMatch UMLS:C1822731 Unspecified SKAP2 +OMIM:605216 skos:exactMatch HGNC:684 Unspecified ARHGEF4 +OMIM:605216 skos:exactMatch HGNC_symbol:ARHGEF4 Unspecified ARHGEF4 +OMIM:605216 skos:exactMatch UMLS:C1412530 Unspecified ARHGEF4 +OMIM:607877 skos:exactMatch HGNC_symbol:OTOS Unspecified None +OMIM:607877 skos:exactMatch UMLS:C1427772 Unspecified None +OMIM:607877 skos:exactMatch HGNC:22644 Unspecified None +OMIM:308205 skos:exactMatch ORPHA:85284 Unspecified ifap syndrome 1, with or without bresheck syndrome +OMIM:308205 skos:exactMatch UMLS:C5399971 Unspecified ifap syndrome 1, with or without bresheck syndrome +OMIM:308205 skos:exactMatch ORPHA:2273 Unspecified ifap syndrome 1, with or without bresheck syndrome +OMIM:605219 skos:exactMatch HGNC_symbol:DIABLO Unspecified DIABLO +OMIM:605219 skos:exactMatch HGNC:21528 Unspecified DIABLO +OMIM:605219 skos:exactMatch UMLS:C1427590 Unspecified DIABLO +OMIM:311850 skos:exactMatch HGNC:9462 Unspecified PRPS1 +OMIM:311850 skos:exactMatch UMLS:C1418954 Unspecified PRPS1 +OMIM:311850 skos:exactMatch HGNC_symbol:PRPS1 Unspecified PRPS1 +OMIM:617200 skos:exactMatch HGNC:20707 Unspecified OPALIN +OMIM:617200 skos:exactMatch HGNC_symbol:OPALIN Unspecified OPALIN +OMIM:617200 skos:exactMatch UMLS:C1427085 Unspecified OPALIN +OMIM:617202 skos:exactMatch HGNC:32448 Unspecified FOXI2 +OMIM:617202 skos:exactMatch HGNC_symbol:FOXI2 Unspecified FOXI2 +OMIM:617202 skos:exactMatch UMLS:C2239460 Unspecified FOXI2 +OMIM:617201 skos:exactMatch UMLS:C4310669 Unspecified periventricular nodular heterotopia 7 +OMIM:617204 skos:exactMatch HGNC_symbol:VMAC Unspecified VMAC +OMIM:617204 skos:exactMatch HGNC:33803 Unspecified VMAC +OMIM:617204 skos:exactMatch UMLS:C2829041 Unspecified VMAC +OMIM:617203 skos:exactMatch UMLS:C1823349 Unspecified TMEM87B +OMIM:617203 skos:exactMatch HGNC_symbol:TMEM87B Unspecified TMEM87B +OMIM:617203 skos:exactMatch HGNC:25913 Unspecified TMEM87B +OMIM:607883 skos:exactMatch HGNC_symbol:SLC52A1 Unspecified SLC52A1 +OMIM:607883 skos:exactMatch HGNC:30225 Unspecified SLC52A1 +OMIM:607883 skos:exactMatch UMLS:C1539608 Unspecified SLC52A1 +OMIM:605220 skos:exactMatch HGNC_symbol:APOBR Unspecified APOBR +OMIM:605220 skos:exactMatch HGNC:24087 Unspecified APOBR +OMIM:605220 skos:exactMatch UMLS:C1854576 Unspecified APOBR +OMIM:605221 skos:exactMatch HGNC:16713 Unspecified SRSF10 +OMIM:605221 skos:exactMatch HGNC_symbol:SRSF10 Unspecified SRSF10 +OMIM:605221 skos:exactMatch UMLS:C1424499 Unspecified SRSF10 +OMIM:605221 skos:exactMatch UMLS:C1854575 Unspecified SRSF10 +OMIM:605221 skos:exactMatch UMLS:C1854574 Unspecified SRSF10 +OMIM:607882 skos:exactMatch HGNC:30224 Unspecified SLC52A2 +OMIM:607882 skos:exactMatch UMLS:C1539607 Unspecified SLC52A2 +OMIM:607882 skos:exactMatch UMLS:C3553538 Unspecified SLC52A2 +OMIM:607882 skos:exactMatch HGNC_symbol:SLC52A2 Unspecified SLC52A2 +OMIM:607881 skos:exactMatch HGNC:30430 Unspecified None +OMIM:607881 skos:exactMatch UMLS:C1842851 Unspecified None +OMIM:607881 skos:exactMatch HGNC_symbol:STAP2 Unspecified None +OMIM:607880 skos:exactMatch UMLS:C1825079 Unspecified EXOC6B +OMIM:607880 skos:exactMatch HGNC:17085 Unspecified EXOC6B +OMIM:607880 skos:exactMatch HGNC_symbol:EXOC6B Unspecified EXOC6B +OMIM:605224 skos:exactMatch HGNC_symbol:RRH Unspecified RRH +OMIM:605224 skos:exactMatch UMLS:C1419759 Unspecified RRH +OMIM:605224 skos:exactMatch HGNC:10450 Unspecified RRH +OMIM:607887 skos:exactMatch HGNC:19175 Unspecified CMTM4 +OMIM:607887 skos:exactMatch HGNC_symbol:CMTM4 Unspecified CMTM4 +OMIM:607887 skos:exactMatch UMLS:C1426064 Unspecified CMTM4 +OMIM:605225 skos:exactMatch UMLS:C1854573 Unspecified inflammatory bowel disease 7 +OMIM:607886 skos:exactMatch HGNC_symbol:CMTM3 Unspecified CMTM3 +OMIM:607886 skos:exactMatch HGNC:19174 Unspecified CMTM3 +OMIM:607886 skos:exactMatch UMLS:C1426063 Unspecified CMTM3 +OMIM:607885 skos:exactMatch HGNC_symbol:CMTM2 Unspecified CMTM2 +OMIM:607885 skos:exactMatch HGNC:19173 Unspecified CMTM2 +OMIM:607885 skos:exactMatch UMLS:C1426062 Unspecified CMTM2 +OMIM:605222 skos:exactMatch HGNC:6287 Unspecified KCNMB3 +OMIM:605222 skos:exactMatch HGNC_symbol:KCNMB3 Unspecified KCNMB3 +OMIM:605222 skos:exactMatch UMLS:C1416605 Unspecified KCNMB3 +OMIM:605223 skos:exactMatch HGNC:6289 Unspecified KCNMB4 +OMIM:605223 skos:exactMatch HGNC_symbol:KCNMB4 Unspecified KCNMB4 +OMIM:605223 skos:exactMatch UMLS:C1416607 Unspecified KCNMB4 +OMIM:607884 skos:exactMatch HGNC:19172 Unspecified CMTM1 +OMIM:607884 skos:exactMatch HGNC_symbol:CMTM1 Unspecified CMTM1 +OMIM:607884 skos:exactMatch UMLS:C1426061 Unspecified CMTM1 +OMIM:607869 skos:exactMatch HGNC_symbol:UNC5A Unspecified UNC5A +OMIM:607869 skos:exactMatch HGNC:12567 Unspecified UNC5A +OMIM:607869 skos:exactMatch UMLS:C1421357 Unspecified UNC5A +OMIM:605206 skos:exactMatch HGNC:16882 Unspecified HCN4 +OMIM:605206 skos:exactMatch HGNC_symbol:HCN4 Unspecified HCN4 +OMIM:605206 skos:exactMatch UMLS:C1424615 Unspecified HCN4 +OMIM:607868 skos:exactMatch HGNC:16281 Unspecified TRIM11 +OMIM:607868 skos:exactMatch HGNC_symbol:TRIM11 Unspecified TRIM11 +OMIM:607868 skos:exactMatch UMLS:C1424150 Unspecified TRIM11 +OMIM:605207 skos:exactMatch UMLS:C1427015 Unspecified CYP26B1 +OMIM:605207 skos:exactMatch HGNC:20581 Unspecified CYP26B1 +OMIM:605207 skos:exactMatch HGNC_symbol:CYP26B1 Unspecified CYP26B1 +OMIM:605204 skos:exactMatch UMLS:C4015968 Unspecified TOR1A +OMIM:605204 skos:exactMatch UMLS:C1851945 Unspecified TOR1A +OMIM:605204 skos:exactMatch HGNC_symbol:TOR1A Unspecified TOR1A +OMIM:605204 skos:exactMatch HGNC:3098 Unspecified TOR1A +OMIM:605204 skos:exactMatch UMLS:C4016919 Unspecified TOR1A +OMIM:605204 skos:exactMatch UMLS:C4016920 Unspecified TOR1A +OMIM:605204 skos:exactMatch UMLS:C5436453 Unspecified TOR1A +OMIM:605204 skos:exactMatch UMLS:C1540039 Unspecified TOR1A +OMIM:607867 skos:exactMatch HGNC_symbol:RCBTB1 Unspecified RCBTB1 +OMIM:607867 skos:exactMatch UMLS:C1425391 Unspecified RCBTB1 +OMIM:607867 skos:exactMatch HGNC:18243 Unspecified RCBTB1 +OMIM:605205 skos:exactMatch HGNC:21285 Unspecified ADCY10 +OMIM:605205 skos:exactMatch UMLS:C1854580 Unspecified ADCY10 +OMIM:605205 skos:exactMatch HGNC_symbol:ADCY10 Unspecified ADCY10 +OMIM:607866 skos:exactMatch HGNC:14297 Unspecified SPRYD7 +OMIM:607866 skos:exactMatch HGNC_symbol:SPRYD7 Unspecified SPRYD7 +OMIM:607866 skos:exactMatch UMLS:C1422552 Unspecified SPRYD7 +OMIM:605208 skos:exactMatch HGNC_symbol:SLC17A7 Unspecified SLC17A7 +OMIM:605208 skos:exactMatch HGNC:16704 Unspecified SLC17A7 +OMIM:605208 skos:exactMatch UMLS:C1424493 Unspecified SLC17A7 +OMIM:605209 skos:exactMatch HGNC:20455 Unspecified CHFR +OMIM:605209 skos:exactMatch HGNC_symbol:CHFR Unspecified CHFR +OMIM:605209 skos:exactMatch UMLS:C1426948 Unspecified CHFR +OMIM:249599 skos:exactMatch UMLS:C1855303 Unspecified mental retardation syndrome, belgian iia +OMIM:607872 skos:exactMatch UMLS:C1842870 Unspecified chromosome 1p36 deletion syndrome, distal +OMIM:605210 skos:exactMatch HGNC:2888 Unspecified DISC1 +OMIM:605210 skos:exactMatch HGNC_symbol:DISC1 Unspecified DISC1 +OMIM:605210 skos:exactMatch UMLS:C1414054 Unspecified DISC1 +OMIM:607871 skos:exactMatch HGNC:13590 Unspecified FBXO11 +OMIM:607871 skos:exactMatch UMLS:C1422085 Unspecified FBXO11 +OMIM:607871 skos:exactMatch HGNC_symbol:FBXO11 Unspecified FBXO11 +OMIM:607870 skos:exactMatch HGNC_symbol:UNC5B Unspecified UNC5B +OMIM:607870 skos:exactMatch HGNC:12568 Unspecified UNC5B +OMIM:607870 skos:exactMatch UMLS:C1421358 Unspecified UNC5B +OMIM:607876 skos:exactMatch UMLS:C1842852 Unspecified epilepsy, familial adult myoclonic, 2 +OMIM:605213 skos:exactMatch UMLS:C1335204 Unspecified PDPK1 +OMIM:605213 skos:exactMatch HGNC:8816 Unspecified PDPK1 +OMIM:605213 skos:exactMatch HGNC_symbol:PDPK1 Unspecified PDPK1 +OMIM:605214 skos:exactMatch UMLS:C1416604 Unspecified KCNMB2 +OMIM:605214 skos:exactMatch HGNC:6286 Unspecified KCNMB2 +OMIM:605214 skos:exactMatch HGNC_symbol:KCNMB2 Unspecified KCNMB2 +OMIM:607875 skos:exactMatch HGNC:33882 Unspecified INPP5K +OMIM:607875 skos:exactMatch HGNC_symbol:INPP5K Unspecified INPP5K +OMIM:607875 skos:exactMatch UMLS:C1842869 Unspecified INPP5K +OMIM:605211 skos:exactMatch HGNC:953 Unspecified BARHL1 +OMIM:605211 skos:exactMatch UMLS:C1412735 Unspecified BARHL1 +OMIM:605211 skos:exactMatch HGNC_symbol:BARHL1 Unspecified BARHL1 +OMIM:607874 skos:exactMatch UMLS:C1423940 Unspecified ZNF444 +OMIM:607874 skos:exactMatch HGNC_symbol:ZNF444 Unspecified ZNF444 +OMIM:607874 skos:exactMatch HGNC:16052 Unspecified ZNF444 +OMIM:607873 skos:exactMatch HGNC:16820 Unspecified SCARF1 +OMIM:607873 skos:exactMatch HGNC_symbol:SCARF1 Unspecified SCARF1 +OMIM:607873 skos:exactMatch UMLS:C1424571 Unspecified SCARF1 +OMIM:605212 skos:exactMatch HGNC:954 Unspecified BARHL2 +OMIM:605212 skos:exactMatch UMLS:C1412736 Unspecified BARHL2 +OMIM:605212 skos:exactMatch HGNC_symbol:BARHL2 Unspecified BARHL2 +OMIM:607858 skos:exactMatch HGNC:18253 Unspecified PARL +OMIM:607858 skos:exactMatch UMLS:C1425398 Unspecified PARL +OMIM:607858 skos:exactMatch HGNC_symbol:PARL Unspecified PARL +OMIM:607857 skos:exactMatch UMLS:C1842897 Unspecified psoriasis 9, susceptibility to +OMIM:607856 skos:exactMatch HGNC_symbol:CGNL1 Unspecified CGNL1 +OMIM:607856 skos:exactMatch HGNC:25931 Unspecified CGNL1 +OMIM:607856 skos:exactMatch UMLS:C1538448 Unspecified CGNL1 +OMIM:607855 skos:exactMatch UMLS:C1263858 Unspecified muscular dystrophy, congenital merosin-deficient, 1a +OMIM:607855 skos:exactMatch ORPHA:258 Unspecified muscular dystrophy, congenital merosin-deficient, 1a +OMIM:607859 skos:exactMatch UMLS:C0346073 Unspecified angioma, tufted +OMIM:130700 skos:exactMatch UMLS:C1851718 Unspecified emphysema, hereditary pulmonary +OMIM:607861 skos:exactMatch HGNC:17748 Unspecified DACT1 +OMIM:607861 skos:exactMatch UMLS:C1425059 Unspecified DACT1 +OMIM:607861 skos:exactMatch HGNC_symbol:DACT1 Unspecified DACT1 +OMIM:607860 skos:exactMatch HGNC:30935 Unspecified YY1AP1 +OMIM:607860 skos:exactMatch UMLS:C1538138 Unspecified YY1AP1 +OMIM:607860 skos:exactMatch HGNC_symbol:YY1AP1 Unspecified YY1AP1 +OMIM:607860 skos:exactMatch UMLS:C1865267 Unspecified YY1AP1 +OMIM:607865 skos:exactMatch HGNC:20263 Unspecified SETDB2 +OMIM:607865 skos:exactMatch HGNC_symbol:SETDB2 Unspecified SETDB2 +OMIM:607865 skos:exactMatch UMLS:C1426820 Unspecified SETDB2 +OMIM:605202 skos:exactMatch UMLS:C1426104 Unspecified NANS +OMIM:605202 skos:exactMatch HGNC_symbol:NANS Unspecified NANS +OMIM:605202 skos:exactMatch HGNC:19237 Unspecified NANS +OMIM:607864 skos:exactMatch UMLS:C1842884 Unspecified caudal duplication anomaly +OMIM:490000 skos:exactMatch HGNC:12870 Unspecified ZFY +OMIM:490000 skos:exactMatch HGNC_symbol:ZFY Unspecified ZFY +OMIM:490000 skos:exactMatch UMLS:C1421579 Unspecified ZFY +OMIM:607863 skos:exactMatch UMLS:C1426163 Unspecified DIRAS2 +OMIM:607863 skos:exactMatch HGNC:19323 Unspecified DIRAS2 +OMIM:607863 skos:exactMatch HGNC_symbol:DIRAS2 Unspecified DIRAS2 +OMIM:605200 skos:exactMatch UMLS:C1415520 Unspecified HERC3 +OMIM:605200 skos:exactMatch HGNC_symbol:HERC3 Unspecified HERC3 +OMIM:605200 skos:exactMatch HGNC:4876 Unspecified HERC3 +OMIM:605201 skos:exactMatch UMLS:C3551749 Unspecified high density lipoprotein cholesterol level quantitative trait locus 14 +OMIM:607862 skos:exactMatch UMLS:C1426032 Unspecified DIRAS1 +OMIM:607862 skos:exactMatch HGNC:19127 Unspecified DIRAS1 +OMIM:607862 skos:exactMatch HGNC_symbol:DIRAS1 Unspecified DIRAS1 +OMIM:617251 skos:exactMatch UMLS:C4310649 Unspecified uncombable hair syndrome 2 +OMIM:617250 skos:exactMatch UMLS:C1825060 Unspecified ERC2 +OMIM:617250 skos:exactMatch HGNC_symbol:ERC2 Unspecified ERC2 +OMIM:617250 skos:exactMatch HGNC:31922 Unspecified ERC2 +OMIM:617253 skos:exactMatch UMLS:C4310647 Unspecified seckel syndrome 10 +OMIM:617252 skos:exactMatch UMLS:C4310648 Unspecified uncombable hair syndrome 3 +OMIM:617255 skos:exactMatch UMLS:C4310646 Unspecified lissencephaly 8 +OMIM:617254 skos:exactMatch UMLS:C1825564 Unspecified LMNTD1 +OMIM:617254 skos:exactMatch HGNC_symbol:LMNTD1 Unspecified LMNTD1 +OMIM:617254 skos:exactMatch HGNC:26683 Unspecified LMNTD1 +OMIM:617257 skos:exactMatch UMLS:C4310615 Unspecified SPATA46 +OMIM:617257 skos:exactMatch HGNC_symbol:SPATA46 Unspecified SPATA46 +OMIM:617257 skos:exactMatch HGNC:27648 Unspecified SPATA46 +OMIM:130710 skos:exactMatch UMLS:C0265797 Unspecified emphysema, congenital lobar +OMIM:617256 skos:exactMatch HGNC:23092 Unspecified SLC7A13 +OMIM:617256 skos:exactMatch UMLS:C1427909 Unspecified SLC7A13 +OMIM:617256 skos:exactMatch HGNC_symbol:SLC7A13 Unspecified SLC7A13 +OMIM:617259 skos:exactMatch HGNC:30911 Unspecified DCAF1 +OMIM:617259 skos:exactMatch HGNC_symbol:DCAF1 Unspecified DCAF1 +OMIM:617259 skos:exactMatch UMLS:C1823635 Unspecified DCAF1 +OMIM:617258 skos:exactMatch UMLS:C4310645 Unspecified myopathy, myofibrillar, 8 +OMIM:617249 skos:exactMatch HGNC:23490 Unspecified FAM122A +OMIM:617249 skos:exactMatch UMLS:C1825259 Unspecified FAM122A +OMIM:617249 skos:exactMatch HGNC_symbol:PABIR1 Unspecified FAM122A +OMIM:605271 skos:exactMatch HGNC_symbol:SERPINA10 Unspecified SERPINA10 +OMIM:605271 skos:exactMatch HGNC:15996 Unspecified SERPINA10 +OMIM:605271 skos:exactMatch UMLS:C1423896 Unspecified SERPINA10 +OMIM:605272 skos:exactMatch UMLS:C1422666 Unspecified NDRG2 +OMIM:605272 skos:exactMatch HGNC_symbol:NDRG2 Unspecified NDRG2 +OMIM:605272 skos:exactMatch HGNC:14460 Unspecified NDRG2 +OMIM:605270 skos:exactMatch UMLS:C1420015 Unspecified SGSH +OMIM:605270 skos:exactMatch HGNC:10818 Unspecified SGSH +OMIM:605270 skos:exactMatch HGNC_symbol:SGSH Unspecified SGSH +OMIM:605275 skos:exactMatch UMLS:C1854469 Unspecified noonan syndrome 2 +OMIM:605276 skos:exactMatch HGNC:21 Unspecified AATK +OMIM:605276 skos:exactMatch HGNC_symbol:AATK Unspecified AATK +OMIM:605276 skos:exactMatch UMLS:C1412055 Unspecified AATK +OMIM:605273 skos:exactMatch UMLS:C1422668 Unspecified NDRG3 +OMIM:605273 skos:exactMatch HGNC_symbol:NDRG3 Unspecified NDRG3 +OMIM:605273 skos:exactMatch HGNC:14462 Unspecified NDRG3 +OMIM:605274 skos:exactMatch UMLS:C1854470 Unspecified mesomelic dysplasia, savarirayan iia +OMIM:308240 skos:exactMatch UMLS:C0549463 Unspecified lymphoproliferative syndrome, x-linked, 1 +OMIM:605279 skos:exactMatch HGNC_symbol:CES3 Unspecified CES3 +OMIM:605279 skos:exactMatch HGNC:1865 Unspecified CES3 +OMIM:605279 skos:exactMatch UMLS:C1413349 Unspecified CES3 +OMIM:605277 skos:exactMatch HGNC:4591 Unspecified GRLF1 +OMIM:605277 skos:exactMatch UMLS:C1415304 Unspecified GRLF1 +OMIM:605277 skos:exactMatch HGNC_symbol:ARHGAP35 Unspecified GRLF1 +OMIM:605278 skos:exactMatch HGNC_symbol:CES2 Unspecified CES2 +OMIM:605278 skos:exactMatch UMLS:C1413348 Unspecified CES2 +OMIM:605278 skos:exactMatch HGNC:1864 Unspecified CES2 +OMIM:142703 skos:exactMatch HGNC_symbol:HRH2 Unspecified HRH2 +OMIM:142703 skos:exactMatch UMLS:C1439352 Unspecified HRH2 +OMIM:142703 skos:exactMatch HGNC:5183 Unspecified HRH2 +OMIM:142704 skos:exactMatch HGNC:4855 Unspecified HDC +OMIM:142704 skos:exactMatch UMLS:C1415505 Unspecified HDC +OMIM:142704 skos:exactMatch HGNC_symbol:HDC Unspecified HDC +OMIM:605259 skos:exactMatch UMLS:C1854488 Unspecified spinocerebellar ataxia 13 +OMIM:142705 skos:exactMatch UMLS:C1415718 Unspecified HRC +OMIM:142705 skos:exactMatch HGNC_symbol:HRC Unspecified HRC +OMIM:142705 skos:exactMatch HGNC:5178 Unspecified HRC +OMIM:142708 skos:exactMatch HGNC:4714 Unspecified H1F0 +OMIM:142708 skos:exactMatch HGNC_symbol:H1-0 Unspecified H1F0 +OMIM:142708 skos:exactMatch UMLS:C1415384 Unspecified H1F0 +OMIM:142709 skos:exactMatch HGNC:4715 Unspecified HIST1H1A +OMIM:142709 skos:exactMatch HGNC_symbol:H1-1 Unspecified HIST1H1A +OMIM:142709 skos:exactMatch UMLS:C1415385 Unspecified HIST1H1A +OMIM:617240 skos:exactMatch HGNC:48872 Unspecified HAND2AS1 +OMIM:617240 skos:exactMatch UMLS:C3811035 Unspecified HAND2AS1 +OMIM:617240 skos:exactMatch HGNC_symbol:HAND2-AS1 Unspecified HAND2AS1 +OMIM:617242 skos:exactMatch UMLS:C2828772 Unspecified TECRL +OMIM:617242 skos:exactMatch UMLS:C3151463 Unspecified TECRL +OMIM:617242 skos:exactMatch HGNC:27365 Unspecified TECRL +OMIM:617242 skos:exactMatch HGNC_symbol:TECRL Unspecified TECRL +OMIM:617241 skos:exactMatch UMLS:C4310653 Unspecified lung disease, immunodeficiency, and chromosome breakage syndrome +OMIM:311895 skos:exactMatch UMLS:C2931064 Unspecified pierre robin sequence with facial and digital anomalies +OMIM:617244 skos:exactMatch UMLS:C4284093 Unspecified fanconi anemia, complementation group r +OMIM:617244 skos:exactMatch ORPHA:84 Unspecified fanconi anemia, complementation group r +OMIM:617243 skos:exactMatch UMLS:C4310652 Unspecified fanconi anemia, complementation group 5 +OMIM:617246 skos:exactMatch HGNC:26513 Unspecified NSMCE2 +OMIM:617246 skos:exactMatch UMLS:C4310647 Unspecified NSMCE2 +OMIM:617246 skos:exactMatch UMLS:C1826473 Unspecified NSMCE2 +OMIM:617246 skos:exactMatch HGNC_symbol:NSMCE2 Unspecified NSMCE2 +OMIM:130720 skos:exactMatch UMLS:C1851710 Unspecified lateral meningocele syndrome +OMIM:617245 skos:exactMatch UMLS:C1539660 Unspecified HECW2 +OMIM:617245 skos:exactMatch HGNC_symbol:HECW2 Unspecified HECW2 +OMIM:617245 skos:exactMatch HGNC:29853 Unspecified HECW2 +OMIM:617248 skos:exactMatch UMLS:C4310650 Unspecified 3-methylglutaconic aciduria, iia 8 +OMIM:617247 skos:exactMatch UMLS:C4310651 Unspecified fanconi anemia, complementation group u +OMIM:617239 skos:exactMatch UMLS:C4310654 Unspecified myasthenic syndrome, congenital, 21, presynaptic +OMIM:617238 skos:exactMatch UMLS:C4310655 Unspecified myopia 25, autosomal dominant +OMIM:308250 skos:exactMatch UMLS:C1839966 Unspecified immunoglobulin m, level of +OMIM:605261 skos:exactMatch UMLS:C1417771 Unspecified NOX4 +OMIM:605261 skos:exactMatch HGNC_symbol:NOX4 Unspecified NOX4 +OMIM:605261 skos:exactMatch HGNC:7891 Unspecified NOX4 +OMIM:605264 skos:exactMatch UMLS:C1422760 Unspecified SORBS1 +OMIM:605264 skos:exactMatch HGNC:14565 Unspecified SORBS1 +OMIM:605264 skos:exactMatch HGNC_symbol:SORBS1 Unspecified SORBS1 +OMIM:605265 skos:exactMatch UMLS:C1422030 Unspecified AVEN +OMIM:605265 skos:exactMatch HGNC_symbol:AVEN Unspecified AVEN +OMIM:605265 skos:exactMatch HGNC:13509 Unspecified AVEN +OMIM:605262 skos:exactMatch HGNC_symbol:NDRG1 Unspecified NDRG1 +OMIM:605262 skos:exactMatch HGNC:7679 Unspecified NDRG1 +OMIM:605262 skos:exactMatch UMLS:C1334873 Unspecified NDRG1 +OMIM:605263 skos:exactMatch HGNC:18181 Unspecified SHC3 +OMIM:605263 skos:exactMatch HGNC_symbol:SHC3 Unspecified SHC3 +OMIM:605263 skos:exactMatch UMLS:C1335822 Unspecified SHC3 +OMIM:605268 skos:exactMatch HGNC_symbol:JPH3 Unspecified JPH3 +OMIM:605268 skos:exactMatch UMLS:C1422484 Unspecified JPH3 +OMIM:605268 skos:exactMatch HGNC:14203 Unspecified JPH3 +OMIM:605269 skos:exactMatch HGNC_symbol:CORO1C Unspecified CORO1C +OMIM:605269 skos:exactMatch HGNC:2254 Unspecified CORO1C +OMIM:605269 skos:exactMatch UMLS:C1413624 Unspecified CORO1C +OMIM:142700 skos:exactMatch UMLS:C1306065 Unspecified developmental dysplasia of the hip 1 +OMIM:142700 skos:exactMatch UMLS:C4551649 Unspecified developmental dysplasia of the hip 1 +OMIM:605266 skos:exactMatch HGNC_symbol:JPH1 Unspecified JPH1 +OMIM:605266 skos:exactMatch UMLS:C1422482 Unspecified JPH1 +OMIM:605266 skos:exactMatch HGNC:14201 Unspecified JPH1 +OMIM:142701 skos:exactMatch HGNC_symbol:HTN1 Unspecified HTN1 +OMIM:142701 skos:exactMatch UMLS:C1415800 Unspecified HTN1 +OMIM:142701 skos:exactMatch HGNC:5283 Unspecified HTN1 +OMIM:142702 skos:exactMatch HGNC_symbol:HTN3 Unspecified HTN3 +OMIM:142702 skos:exactMatch UMLS:C1415801 Unspecified HTN3 +OMIM:142702 skos:exactMatch HGNC:5284 Unspecified HTN3 +OMIM:605267 skos:exactMatch HGNC_symbol:JPH2 Unspecified JPH2 +OMIM:605267 skos:exactMatch UMLS:C1422483 Unspecified JPH2 +OMIM:605267 skos:exactMatch HGNC:14202 Unspecified JPH2 +OMIM:605248 skos:exactMatch UMLS:C0238286 Unspecified MCOLN1 +OMIM:605248 skos:exactMatch HGNC:13356 Unspecified MCOLN1 +OMIM:605248 skos:exactMatch UMLS:C1421947 Unspecified MCOLN1 +OMIM:605248 skos:exactMatch HGNC_symbol:MCOLN1 Unspecified MCOLN1 +OMIM:617231 skos:exactMatch UMLS:C2829632 Unspecified LHPP +OMIM:617231 skos:exactMatch HGNC_symbol:LHPP Unspecified LHPP +OMIM:617231 skos:exactMatch HGNC:30042 Unspecified LHPP +OMIM:617230 skos:exactMatch HGNC:23328 Unspecified ZFP1 +OMIM:617230 skos:exactMatch UMLS:C1428037 Unspecified ZFP1 +OMIM:617230 skos:exactMatch HGNC_symbol:ZFP1 Unspecified ZFP1 +OMIM:617233 skos:exactMatch HGNC:25495 Unspecified WDR70 +OMIM:617233 skos:exactMatch HGNC_symbol:WDR70 Unspecified WDR70 +OMIM:617233 skos:exactMatch UMLS:C1823834 Unspecified WDR70 +OMIM:311860 skos:exactMatch UMLS:C1418957 Unspecified PRPS2 +OMIM:311860 skos:exactMatch HGNC_symbol:PRPS2 Unspecified PRPS2 +OMIM:311860 skos:exactMatch HGNC:9465 Unspecified PRPS2 +OMIM:617232 skos:exactMatch UMLS:C4310660 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 21 +OMIM:617235 skos:exactMatch UMLS:C4310658 Unspecified myoclonus, intractable, neonatal +OMIM:617234 skos:exactMatch UMLS:C4310659 Unspecified preimplantation embryonic lethality 2 +OMIM:617237 skos:exactMatch UMLS:C4310656 Unspecified immunodeficiency 49 +OMIM:617236 skos:exactMatch UMLS:C5193018 Unspecified cone-rod dystrophy and hearing loss 1 +OMIM:617228 skos:exactMatch UMLS:C4310661 Unspecified combined oxidative phosphorylation deficiency 31 +OMIM:617227 skos:exactMatch UMLS:C1825096 Unspecified ATAD3C +OMIM:617227 skos:exactMatch HGNC_symbol:ATAD3C Unspecified ATAD3C +OMIM:617227 skos:exactMatch HGNC:32151 Unspecified ATAD3C +OMIM:617229 skos:exactMatch HGNC:31860 Unspecified FAM53A +OMIM:617229 skos:exactMatch HGNC_symbol:FAM53A Unspecified FAM53A +OMIM:617229 skos:exactMatch UMLS:C1825114 Unspecified FAM53A +OMIM:605250 skos:exactMatch HGNC_symbol:ABCC4 Unspecified ABCC4 +OMIM:605250 skos:exactMatch HGNC:55 Unspecified ABCC4 +OMIM:605250 skos:exactMatch UMLS:C1412079 Unspecified ABCC4 +OMIM:605253 skos:exactMatch ORPHA:99951 Unspecified neuropathy, congenital hypomyelinating, 1, autosomal recessive +OMIM:605253 skos:exactMatch UMLS:C4721436 Unspecified neuropathy, congenital hypomyelinating, 1, autosomal recessive +OMIM:605253 skos:exactMatch UMLS:C4721437 Unspecified neuropathy, congenital hypomyelinating, 1, autosomal recessive +OMIM:605254 skos:exactMatch UMLS:C1538050 Unspecified NCSTN +OMIM:605254 skos:exactMatch HGNC:17091 Unspecified NCSTN +OMIM:605254 skos:exactMatch HGNC_symbol:NCSTN Unspecified NCSTN +OMIM:605251 skos:exactMatch HGNC_symbol:ABCC5 Unspecified ABCC5 +OMIM:605251 skos:exactMatch HGNC:56 Unspecified ABCC5 +OMIM:605251 skos:exactMatch UMLS:C1412080 Unspecified ABCC5 +OMIM:605252 skos:exactMatch UMLS:C1418734 Unspecified POLI +OMIM:605252 skos:exactMatch HGNC_symbol:POLI Unspecified POLI +OMIM:605252 skos:exactMatch HGNC:9182 Unspecified POLI +OMIM:605257 skos:exactMatch HGNC:13203 Unspecified AICDA +OMIM:605257 skos:exactMatch UMLS:C1421876 Unspecified AICDA +OMIM:605257 skos:exactMatch HGNC_symbol:AICDA Unspecified AICDA +OMIM:142710 skos:exactMatch HGNC:4716 Unspecified HIST1H1C +OMIM:142710 skos:exactMatch HGNC_symbol:H1-2 Unspecified HIST1H1C +OMIM:142710 skos:exactMatch UMLS:C1415386 Unspecified HIST1H1C +OMIM:142711 skos:exactMatch HGNC:4719 Unspecified HIST1H1B +OMIM:142711 skos:exactMatch HGNC_symbol:H1-5 Unspecified HIST1H1B +OMIM:142711 skos:exactMatch UMLS:C1415389 Unspecified HIST1H1B +OMIM:605258 skos:exactMatch UMLS:C1720956 Unspecified immunodeficiency with hyper-igm, iia 2 +OMIM:308220 skos:exactMatch UMLS:C1839982 Unspecified immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein +OMIM:142712 skos:exactMatch HGNC:4720 Unspecified HIST1H1T +OMIM:142712 skos:exactMatch HGNC_symbol:H1-6 Unspecified HIST1H1T +OMIM:142712 skos:exactMatch UMLS:C1415390 Unspecified HIST1H1T +OMIM:605255 skos:exactMatch HGNC:18160 Unspecified ETV7 +OMIM:605255 skos:exactMatch UMLS:C1425353 Unspecified ETV7 +OMIM:605255 skos:exactMatch HGNC_symbol:ETV7 Unspecified ETV7 +OMIM:605256 skos:exactMatch HGNC:18278 Unspecified RAD18 +OMIM:605256 skos:exactMatch HGNC_symbol:RAD18 Unspecified RAD18 +OMIM:605256 skos:exactMatch UMLS:C1425416 Unspecified RAD18 +OMIM:605239 skos:exactMatch HGNC:866 Unspecified ATP6V0A4 +OMIM:605239 skos:exactMatch UMLS:C1412686 Unspecified ATP6V0A4 +OMIM:605239 skos:exactMatch HGNC_symbol:ATP6V0A4 Unspecified ATP6V0A4 +OMIM:605239 skos:exactMatch UMLS:C5436959 Unspecified ATP6V0A4 +OMIM:605239 skos:exactMatch UMLS:C5436960 Unspecified ATP6V0A4 +OMIM:605239 skos:exactMatch UMLS:C5399980 Unspecified ATP6V0A4 +OMIM:605237 skos:exactMatch HGNC:12827 Unspecified XPR1 +OMIM:605237 skos:exactMatch UMLS:C1421546 Unspecified XPR1 +OMIM:605237 skos:exactMatch HGNC_symbol:XPR1 Unspecified XPR1 +OMIM:605238 skos:exactMatch UMLS:C1415632 Unspecified HNMT +OMIM:605238 skos:exactMatch HGNC:5028 Unspecified HNMT +OMIM:605238 skos:exactMatch HGNC_symbol:HNMT Unspecified HNMT +OMIM:607899 skos:exactMatch UMLS:C1823861 Unspecified WT1AS +OMIM:607899 skos:exactMatch HGNC:18135 Unspecified WT1AS +OMIM:607899 skos:exactMatch HGNC_symbol:WT1-AS Unspecified WT1AS +OMIM:617220 skos:exactMatch UMLS:C2239867 Unspecified PYROXD1 +OMIM:617220 skos:exactMatch HGNC_symbol:PYROXD1 Unspecified PYROXD1 +OMIM:617220 skos:exactMatch HGNC:26162 Unspecified PYROXD1 +OMIM:617222 skos:exactMatch UMLS:C4310664 Unspecified sudden cardiac failure, infantile +OMIM:617221 skos:exactMatch UMLS:C1539669 Unspecified HKDC1 +OMIM:617221 skos:exactMatch HGNC:23302 Unspecified HKDC1 +OMIM:617221 skos:exactMatch HGNC_symbol:HKDC1 Unspecified HKDC1 +OMIM:617224 skos:exactMatch HGNC:27475 Unspecified GAS2L3 +OMIM:617224 skos:exactMatch UMLS:C1539550 Unspecified GAS2L3 +OMIM:617224 skos:exactMatch HGNC_symbol:GAS2L3 Unspecified GAS2L3 +OMIM:311870 skos:exactMatch HGNC:8925 Unspecified PHKA1 +OMIM:311870 skos:exactMatch UMLS:C1418532 Unspecified PHKA1 +OMIM:311870 skos:exactMatch HGNC_symbol:PHKA1 Unspecified PHKA1 +OMIM:617223 skos:exactMatch UMLS:C4310663 Unspecified sudden cardiac failure, alcohol-induced +OMIM:617226 skos:exactMatch UMLS:C2239669 Unspecified MAPK1IP1L +OMIM:617226 skos:exactMatch HGNC:19840 Unspecified MAPK1IP1L +OMIM:617226 skos:exactMatch HGNC_symbol:MAPK1IP1L Unspecified MAPK1IP1L +OMIM:617225 skos:exactMatch UMLS:C4310662 Unspecified spastic paraplegia 78, autosomal recessive +OMIM:617225 skos:exactMatch ORPHA:513436 Unspecified spastic paraplegia 78, autosomal recessive +OMIM:617217 skos:exactMatch UMLS:C4310665 Unspecified amelogenesis imperfecta, hypomaturation type, iia6 +OMIM:617216 skos:exactMatch HGNC:20649 Unspecified ZNF420 +OMIM:617216 skos:exactMatch HGNC_symbol:ZNF420 Unspecified ZNF420 +OMIM:617216 skos:exactMatch UMLS:C1427058 Unspecified ZNF420 +OMIM:617219 skos:exactMatch UMLS:C4311046 Unspecified chromosome 19q13.11 deletion syndrome, proximal +OMIM:154700 skos:exactMatch UMLS:C0024796 Unspecified marfan syndrome +OMIM:154700 skos:exactMatch UMLS:C4721845 Unspecified marfan syndrome +OMIM:617218 skos:exactMatch UMLS:C1823453 Unspecified TMTC3 +OMIM:617218 skos:exactMatch HGNC:26899 Unspecified TMTC3 +OMIM:617218 skos:exactMatch HGNC_symbol:TMTC3 Unspecified TMTC3 +OMIM:605242 skos:exactMatch HGNC:12597 Unspecified USH1C +OMIM:605242 skos:exactMatch UMLS:C1421379 Unspecified USH1C +OMIM:605242 skos:exactMatch UMLS:C4015968 Unspecified USH1C +OMIM:605242 skos:exactMatch HGNC_symbol:USH1C Unspecified USH1C +OMIM:605242 skos:exactMatch UMLS:C1865870 Unspecified USH1C +OMIM:605242 skos:exactMatch UMLS:C1848604 Unspecified USH1C +OMIM:605243 skos:exactMatch UMLS:C1424783 Unspecified LY96 +OMIM:605243 skos:exactMatch HGNC_symbol:LY96 Unspecified LY96 +OMIM:605243 skos:exactMatch HGNC:17156 Unspecified LY96 +OMIM:605240 skos:exactMatch HGNC_symbol:CCL28 Unspecified CCL28 +OMIM:605240 skos:exactMatch HGNC:17700 Unspecified CCL28 +OMIM:605240 skos:exactMatch UMLS:C1425042 Unspecified CCL28 +OMIM:274500 skos:exactMatch UMLS:C1291299 Unspecified thyroid dyshormonogenesis 2a +OMIM:142720 skos:exactMatch HGNC_symbol:H2AC18 Unspecified HIST2H2AA3 +OMIM:142720 skos:exactMatch HGNC:4736 Unspecified HIST2H2AA3 +OMIM:142720 skos:exactMatch UMLS:C1825479 Unspecified HIST2H2AA3 +OMIM:605241 skos:exactMatch UMLS:C1424584 Unspecified LY86 +OMIM:605241 skos:exactMatch HGNC_symbol:LY86 Unspecified LY86 +OMIM:605241 skos:exactMatch HGNC:16837 Unspecified LY86 +OMIM:605246 skos:exactMatch UMLS:C1412995 Unspecified C3AR1 +OMIM:605246 skos:exactMatch HGNC:1319 Unspecified C3AR1 +OMIM:605246 skos:exactMatch HGNC_symbol:C3AR1 Unspecified C3AR1 +OMIM:308230 skos:exactMatch UMLS:C0398689 Unspecified immunodeficiency with hyper-igm, iia 1 +OMIM:605247 skos:exactMatch UMLS:C1424323 Unspecified PIDD1 +OMIM:605247 skos:exactMatch HGNC_symbol:PIDD1 Unspecified PIDD1 +OMIM:605247 skos:exactMatch HGNC:16491 Unspecified PIDD1 +OMIM:605244 skos:exactMatch UMLS:C1854540 Unspecified carney complex, iia 2 +OMIM:605245 skos:exactMatch HGNC:13812 Unspecified SLC2A8 +OMIM:605245 skos:exactMatch UMLS:C1422207 Unspecified SLC2A8 +OMIM:605245 skos:exactMatch HGNC_symbol:SLC2A8 Unspecified SLC2A8 +OMIM:617291 skos:exactMatch UMLS:C2680488 Unspecified TMEM150B +OMIM:617291 skos:exactMatch HGNC_symbol:TMEM150B Unspecified TMEM150B +OMIM:617291 skos:exactMatch HGNC:34415 Unspecified TMEM150B +OMIM:617290 skos:exactMatch UMLS:C4310632 Unspecified epilepsy, early-onset, vitamin b6-dependent +OMIM:617293 skos:exactMatch HGNC_symbol:MXRA8 Unspecified MXRA8 +OMIM:617293 skos:exactMatch HGNC:7542 Unspecified MXRA8 +OMIM:617293 skos:exactMatch UMLS:C1417519 Unspecified MXRA8 +OMIM:617292 skos:exactMatch HGNC:37263 Unspecified TMEM150C +OMIM:617292 skos:exactMatch UMLS:C2828872 Unspecified TMEM150C +OMIM:617292 skos:exactMatch HGNC_symbol:TMEM150C Unspecified TMEM150C +OMIM:166700 skos:exactMatch ORPHA:166119 Unspecified buschke-ollendorff syndrome +OMIM:166700 skos:exactMatch ORPHA:1306 Unspecified buschke-ollendorff syndrome +OMIM:166700 skos:exactMatch UMLS:C0265514 Unspecified buschke-ollendorff syndrome +OMIM:617295 skos:exactMatch HGNC:30286 Unspecified RUNDC3B +OMIM:617295 skos:exactMatch UMLS:C2239914 Unspecified RUNDC3B +OMIM:617295 skos:exactMatch HGNC_symbol:RUNDC3B Unspecified RUNDC3B +OMIM:237550 skos:exactMatch UMLS:C0400964 Unspecified hyperbilirubinemia, conjugated, iia 3 +OMIM:617294 skos:exactMatch UMLS:C4310631 Unspecified epidermolysis bullosa simplex 6, generalized, with scarring and hair loss +OMIM:617297 skos:exactMatch UMLS:C4310630 Unspecified amelogenesis imperfecta, iia 1j +OMIM:617296 skos:exactMatch UMLS:C4284592 Unspecified spastic paraplegia, intellectual disability, nystagmus, and obesity +OMIM:617299 skos:exactMatch HGNC:28641 Unspecified RPAIN +OMIM:617299 skos:exactMatch HGNC_symbol:RPAIN Unspecified RPAIN +OMIM:617299 skos:exactMatch UMLS:C1826849 Unspecified RPAIN +OMIM:617298 skos:exactMatch HGNC_symbol:AIFM3 Unspecified AIFM3 +OMIM:617298 skos:exactMatch HGNC:26398 Unspecified AIFM3 +OMIM:617298 skos:exactMatch UMLS:C1826620 Unspecified AIFM3 +OMIM:142730 skos:exactMatch UMLS:C1840551 Unspecified histiocytic dermatoarthritis +OMIM:166705 skos:exactMatch UMLS:C1833698 Unspecified osteopoikilosis and dacryocystitis +OMIM:617280 skos:exactMatch UMLS:C4310636 Unspecified atrial fibrillation, familial, 18 +OMIM:617282 skos:exactMatch UMLS:C4310634 Unspecified dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +OMIM:617281 skos:exactMatch UMLS:C4310635 Unspecified developmental and epileptic encephalopathy 49 +OMIM:617284 skos:exactMatch UMLS:C4310633 Unspecified dystonia 28, childhood-onset +OMIM:617283 skos:exactMatch UMLS:C1823897 Unspecified YTHDC1 +OMIM:617283 skos:exactMatch HGNC:30626 Unspecified YTHDC1 +OMIM:617283 skos:exactMatch HGNC_symbol:YTHDC1 Unspecified YTHDC1 +OMIM:617286 skos:exactMatch UMLS:C4085055 Unspecified PANCR +OMIM:617286 skos:exactMatch HGNC:52282 Unspecified PANCR +OMIM:617286 skos:exactMatch HGNC_symbol:PANCR Unspecified PANCR +OMIM:617285 skos:exactMatch UMLS:C1825515 Unspecified HMGB4 +OMIM:617285 skos:exactMatch HGNC:24954 Unspecified HMGB4 +OMIM:617285 skos:exactMatch HGNC_symbol:HMGB4 Unspecified HMGB4 +OMIM:617288 skos:exactMatch UMLS:C1823110 Unspecified SPINK7 +OMIM:617288 skos:exactMatch HGNC_symbol:SPINK7 Unspecified SPINK7 +OMIM:617288 skos:exactMatch HGNC:24643 Unspecified SPINK7 +OMIM:617287 skos:exactMatch HGNC_symbol:PLPPR5 Unspecified PLPPR5 +OMIM:617287 skos:exactMatch UMLS:C4083552 Unspecified PLPPR5 +OMIM:617287 skos:exactMatch HGNC:31703 Unspecified PLPPR5 +OMIM:262500 skos:exactMatch UMLS:C0271568 Unspecified laron syndrome +OMIM:617289 skos:exactMatch UMLS:C1428758 Unspecified FAM53B +OMIM:617289 skos:exactMatch HGNC:28968 Unspecified FAM53B +OMIM:617289 skos:exactMatch HGNC_symbol:FAM53B Unspecified FAM53B +OMIM:465000 skos:exactMatch HGNC:18783 Unspecified AKAP17A +OMIM:465000 skos:exactMatch UMLS:C1824816 Unspecified AKAP17A +OMIM:465000 skos:exactMatch HGNC_symbol:AKAP17A Unspecified AKAP17A +OMIM:139100 skos:exactMatch UMLS:C1841809 Unspecified graying of hair, precocious +OMIM:617271 skos:exactMatch UMLS:C4310640 Unspecified nephronophthisis 20 +OMIM:617270 skos:exactMatch UMLS:C4310641 Unspecified intellectual developmental disorder, autosomal recessive 58 +OMIM:617273 skos:exactMatch HGNC_symbol:CIBAR1 Unspecified FAM92A +OMIM:617273 skos:exactMatch HGNC:30452 Unspecified FAM92A +OMIM:617273 skos:exactMatch UMLS:C1825209 Unspecified FAM92A +OMIM:617272 skos:exactMatch UMLS:C4310639 Unspecified glaucoma 3, primary congenital, e +OMIM:617275 skos:exactMatch UMLS:C4310638 Unspecified tooth agenesis, selective, 9 +OMIM:617274 skos:exactMatch UMLS:C1825212 Unspecified FAM92B +OMIM:617274 skos:exactMatch HGNC_symbol:CIBAR2 Unspecified FAM92B +OMIM:617274 skos:exactMatch HGNC:24781 Unspecified FAM92B +OMIM:617277 skos:exactMatch UMLS:C1824953 Unspecified DNHD1 +OMIM:617277 skos:exactMatch HGNC:26532 Unspecified DNHD1 +OMIM:617277 skos:exactMatch HGNC_symbol:DNHD1 Unspecified DNHD1 +OMIM:617276 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 48 +OMIM:617276 skos:exactMatch UMLS:C4310637 Unspecified developmental and epileptic encephalopathy 48 +OMIM:617279 skos:exactMatch HGNC:28338 Unspecified DENND5B +OMIM:617279 skos:exactMatch HGNC_symbol:DENND5B Unspecified DENND5B +OMIM:617279 skos:exactMatch UMLS:C2681407 Unspecified DENND5B +OMIM:617278 skos:exactMatch UMLS:C1426178 Unspecified DENND5A +OMIM:617278 skos:exactMatch HGNC_symbol:DENND5A Unspecified DENND5A +OMIM:617278 skos:exactMatch UMLS:C4310635 Unspecified DENND5A +OMIM:617278 skos:exactMatch HGNC:19344 Unspecified DENND5A +OMIM:605290 skos:exactMatch UMLS:C3276549 Unspecified OPA1 +OMIM:605290 skos:exactMatch HGNC:8140 Unspecified OPA1 +OMIM:605290 skos:exactMatch UMLS:C1847730 Unspecified OPA1 +OMIM:605290 skos:exactMatch UMLS:C4225538 Unspecified OPA1 +OMIM:605290 skos:exactMatch UMLS:C0221061 Unspecified OPA1 +OMIM:605290 skos:exactMatch UMLS:C0338508 Unspecified OPA1 +OMIM:605290 skos:exactMatch UMLS:C1417953 Unspecified OPA1 +OMIM:605290 skos:exactMatch HGNC_symbol:OPA1 Unspecified OPA1 +OMIM:605293 skos:exactMatch UMLS:C1854430 Unspecified optic atrophy 4 +OMIM:605294 skos:exactMatch HGNC_symbol:CHST6 Unspecified CHST6 +OMIM:605294 skos:exactMatch HGNC:6938 Unspecified CHST6 +OMIM:605294 skos:exactMatch UMLS:C1417068 Unspecified CHST6 +OMIM:605292 skos:exactMatch HGNC_symbol:NT5M Unspecified NT5M +OMIM:605292 skos:exactMatch HGNC:15769 Unspecified NT5M +OMIM:605292 skos:exactMatch UMLS:C1423718 Unspecified NT5M +OMIM:142750 skos:exactMatch HGNC_symbol:H4C14 Unspecified HIST2H4A +OMIM:142750 skos:exactMatch HGNC:4794 Unspecified HIST2H4A +OMIM:142750 skos:exactMatch UMLS:C1825484 Unspecified HIST2H4A +OMIM:605297 skos:exactMatch HGNC:15934 Unspecified NELFCD +OMIM:605297 skos:exactMatch HGNC_symbol:NELFCD Unspecified NELFCD +OMIM:605297 skos:exactMatch UMLS:C1423842 Unspecified NELFCD +OMIM:605298 skos:exactMatch UMLS:C2986382 Unspecified VPS26C +OMIM:605298 skos:exactMatch UMLS:C1414164 Unspecified VPS26C +OMIM:605298 skos:exactMatch HGNC_symbol:VPS26C Unspecified VPS26C +OMIM:605298 skos:exactMatch HGNC:3044 Unspecified VPS26C +OMIM:139111 skos:exactMatch HGNC:4604 Unspecified CXCL3 +OMIM:139111 skos:exactMatch UMLS:C0812311 Unspecified CXCL3 +OMIM:139111 skos:exactMatch HGNC_symbol:CXCL3 Unspecified CXCL3 +OMIM:605295 skos:exactMatch UMLS:C1421922 Unspecified FIGN +OMIM:605295 skos:exactMatch HGNC:13285 Unspecified FIGN +OMIM:605295 skos:exactMatch HGNC_symbol:FIGN Unspecified FIGN +OMIM:139110 skos:exactMatch UMLS:C0812310 Unspecified CXCL2 +OMIM:139110 skos:exactMatch HGNC_symbol:CXCL2 Unspecified CXCL2 +OMIM:139110 skos:exactMatch HGNC:4603 Unspecified CXCL2 +OMIM:605296 skos:exactMatch UMLS:C1414163 Unspecified PSMG1 +OMIM:605296 skos:exactMatch HGNC_symbol:PSMG1 Unspecified PSMG1 +OMIM:605296 skos:exactMatch HGNC:3043 Unspecified PSMG1 +OMIM:605299 skos:exactMatch UMLS:C1367177 Unspecified NCOA6 +OMIM:605299 skos:exactMatch HGNC_symbol:NCOA6 Unspecified NCOA6 +OMIM:605299 skos:exactMatch HGNC:15936 Unspecified NCOA6 +OMIM:250500 skos:exactMatch UMLS:C1855164 Unspecified metaphyseal modeling abnormality, skin lesions, and spastic paraplegia +OMIM:166710 skos:exactMatch UMLS:C0029456 Unspecified osteoporosis +OMIM:166710 skos:exactMatch UMLS:C3888192 Unspecified osteoporosis +OMIM:166710 skos:exactMatch UMLS:C2674640 Unspecified osteoporosis +OMIM:617260 skos:exactMatch UMLS:C4310644 Unspecified global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies +OMIM:140100 skos:exactMatch HGNC:5141 Unspecified HP +OMIM:140100 skos:exactMatch UMLS:C1415692 Unspecified HP +OMIM:140100 skos:exactMatch HGNC_symbol:HP Unspecified HP +OMIM:617262 skos:exactMatch HGNC_symbol:DMAC2 Unspecified ATP5SL +OMIM:617262 skos:exactMatch HGNC:25496 Unspecified ATP5SL +OMIM:617262 skos:exactMatch UMLS:C2239957 Unspecified ATP5SL +OMIM:617261 skos:exactMatch HGNC_symbol:DMAC1 Unspecified TMEM261 +OMIM:617261 skos:exactMatch HGNC:30536 Unspecified TMEM261 +OMIM:617261 skos:exactMatch UMLS:C1538351 Unspecified TMEM261 +OMIM:617264 skos:exactMatch HGNC_symbol:SCAF1 Unspecified SCAF1 +OMIM:617264 skos:exactMatch HGNC:30403 Unspecified SCAF1 +OMIM:617264 skos:exactMatch UMLS:C2239916 Unspecified SCAF1 +OMIM:617263 skos:exactMatch HGNC:29897 Unspecified NSMCE1 +OMIM:617263 skos:exactMatch HGNC_symbol:NSMCE1 Unspecified NSMCE1 +OMIM:617263 skos:exactMatch UMLS:C1538488 Unspecified NSMCE1 +OMIM:617266 skos:exactMatch UMLS:C1824221 Unspecified KIAA0825 +OMIM:617266 skos:exactMatch HGNC_symbol:KIAA0825 Unspecified KIAA0825 +OMIM:617266 skos:exactMatch HGNC:28532 Unspecified KIAA0825 +OMIM:617265 skos:exactMatch HGNC:22401 Unspecified KCTD9 +OMIM:617265 skos:exactMatch UMLS:C1427768 Unspecified KCTD9 +OMIM:617265 skos:exactMatch HGNC_symbol:KCTD9 Unspecified KCTD9 +OMIM:617268 skos:exactMatch UMLS:C4310643 Unspecified neurodevelopmental disorder with hypotonia, seizures, and absent language +OMIM:617267 skos:exactMatch HGNC_symbol:MAIP1 Unspecified MAIP1 +OMIM:617267 skos:exactMatch UMLS:C1824112 Unspecified MAIP1 +OMIM:617267 skos:exactMatch HGNC:26198 Unspecified MAIP1 +OMIM:617269 skos:exactMatch HGNC_symbol:SOCS2-AS1 Unspecified SOCS2AS1 +OMIM:617269 skos:exactMatch HGNC:27054 Unspecified SOCS2AS1 +OMIM:617269 skos:exactMatch UMLS:C4310642 Unspecified SOCS2AS1 +OMIM:605282 skos:exactMatch UMLS:C1854466 Unspecified temtamy preaxial brachydactyly syndrome +OMIM:605283 skos:exactMatch UMLS:C1416986 Unspecified MAGEL2 +OMIM:605283 skos:exactMatch UMLS:C3809877 Unspecified MAGEL2 +OMIM:605283 skos:exactMatch HGNC_symbol:MAGEL2 Unspecified MAGEL2 +OMIM:605283 skos:exactMatch HGNC:6814 Unspecified MAGEL2 +OMIM:605280 skos:exactMatch UMLS:C1854467 Unspecified spastic paraplegia 13, autosomal dominant +OMIM:605281 skos:exactMatch HGNC:18700 Unspecified DDX4 +OMIM:605281 skos:exactMatch HGNC_symbol:DDX4 Unspecified DDX4 +OMIM:605281 skos:exactMatch UMLS:C1425720 Unspecified DDX4 +OMIM:605286 skos:exactMatch UMLS:C5436961 Unspecified CAPN10 +OMIM:605286 skos:exactMatch UMLS:C1854448 Unspecified CAPN10 +OMIM:605286 skos:exactMatch HGNC:1477 Unspecified CAPN10 +OMIM:605286 skos:exactMatch UMLS:C1413110 Unspecified CAPN10 +OMIM:605286 skos:exactMatch HGNC_symbol:CAPN10 Unspecified CAPN10 +OMIM:605287 skos:exactMatch HGNC_symbol:RNPEPL1 Unspecified RNPEPL1 +OMIM:605287 skos:exactMatch UMLS:C1419435 Unspecified RNPEPL1 +OMIM:605287 skos:exactMatch HGNC:10079 Unspecified RNPEPL1 +OMIM:605284 skos:exactMatch UMLS:C4015968 Unspecified TSC1 +OMIM:605284 skos:exactMatch UMLS:C0751674 Unspecified TSC1 +OMIM:605284 skos:exactMatch UMLS:C1854465 Unspecified TSC1 +OMIM:605284 skos:exactMatch UMLS:C0694894 Unspecified TSC1 +OMIM:605284 skos:exactMatch HGNC_symbol:TSC1 Unspecified TSC1 +OMIM:605284 skos:exactMatch HGNC:12362 Unspecified TSC1 +OMIM:605284 skos:exactMatch UMLS:C4479673 Unspecified TSC1 +OMIM:142763 skos:exactMatch HGNC_symbol:H2AZ1 Unspecified H2AFZ +OMIM:142763 skos:exactMatch HGNC:4741 Unspecified H2AFZ +OMIM:142763 skos:exactMatch UMLS:C1415408 Unspecified H2AFZ +OMIM:605285 skos:exactMatch UMLS:C1854449 Unspecified neuropathy, hereditary motor and sensory, russe iia +OMIM:142765 skos:exactMatch HGNC:9983 Unspecified RFX2 +OMIM:142765 skos:exactMatch HGNC_symbol:RFX2 Unspecified RFX2 +OMIM:142765 skos:exactMatch UMLS:C1419360 Unspecified RFX2 +OMIM:605289 skos:exactMatch UMLS:C1854442 Unspecified split-hand/foot malformation 4 +OMIM:311800 skos:exactMatch HGNC_symbol:PGK1 Unspecified PGK1 +OMIM:311800 skos:exactMatch UMLS:C1418511 Unspecified PGK1 +OMIM:311800 skos:exactMatch UMLS:C1418509 Unspecified PGK1 +OMIM:311800 skos:exactMatch UMLS:C1418508 Unspecified PGK1 +OMIM:311800 skos:exactMatch HGNC:8896 Unspecified PGK1 +OMIM:191700 skos:exactMatch UMLS:C2674049 Unspecified urolithiasis, uric acid, autosomal dominant +OMIM:166740 skos:exactMatch UMLS:C1833697 Unspecified osteosclerosis with ichthyosis and fractures +OMIM:489000 skos:exactMatch UMLS:C1839046 Unspecified ubiquitin-activating enzyme, Y-linked +OMIM:201550 skos:exactMatch UMLS:C0431886 Unspecified adducted thumbs syndrome +OMIM:142770 skos:exactMatch UMLS:C1840550 Unspecified hla modifier +OMIM:154750 skos:exactMatch UMLS:C0268365 Unspecified marfanoid hypermobility syndrome +OMIM:139130 skos:exactMatch UMLS:C1333689 Unspecified GNB3 +OMIM:139130 skos:exactMatch HGNC:4400 Unspecified GNB3 +OMIM:139130 skos:exactMatch HGNC_symbol:GNB3 Unspecified GNB3 +OMIM:237500 skos:exactMatch UMLS:C0022350 Unspecified dubin-johnson syndrome +OMIM:139139 skos:exactMatch HGNC_symbol:NR4A1 Unspecified NR4A1 +OMIM:139139 skos:exactMatch HGNC:7980 Unspecified NR4A1 +OMIM:139139 skos:exactMatch UMLS:C1367453 Unspecified NR4A1 +OMIM:191710 skos:exactMatch UMLS:C1824761 Unspecified CMPK1 +OMIM:191710 skos:exactMatch HGNC_symbol:CMPK1 Unspecified CMPK1 +OMIM:191710 skos:exactMatch HGNC:18170 Unspecified CMPK1 +OMIM:249500 skos:exactMatch UMLS:C1855304 Unspecified intellectual developmental disorder, autosomal recessive 1 +OMIM:142780 skos:exactMatch HGNC_symbol:H3C14 Unspecified HIST2H3C +OMIM:142780 skos:exactMatch HGNC:20503 Unspecified HIST2H3C +OMIM:142780 skos:exactMatch UMLS:C1426975 Unspecified HIST2H3C +OMIM:152100 skos:exactMatch UMLS:C1835371 Unspecified lipoprotein types--ld system +OMIM:164100 skos:exactMatch UMLS:C1834079 Unspecified nystagmus 2, congenital, autosomal dominant +OMIM:166760 skos:exactMatch UMLS:C1833692 Unspecified otitis media, susceptibility to +OMIM:142790 skos:exactMatch HGNC_symbol:CD74 Unspecified CD74 +OMIM:142790 skos:exactMatch HGNC:1697 Unspecified CD74 +OMIM:142790 skos:exactMatch UMLS:C1413237 Unspecified CD74 +OMIM:142795 skos:exactMatch UMLS:C1840549 Unspecified HLA8 +OMIM:139150 skos:exactMatch UMLS:C1419277 Unspecified RASA1 +OMIM:139150 skos:exactMatch HGNC_symbol:RASA1 Unspecified RASA1 +OMIM:139150 skos:exactMatch UMLS:C3838465 Unspecified RASA1 +OMIM:139150 skos:exactMatch UMLS:C4747394 Unspecified RASA1 +OMIM:139150 skos:exactMatch HGNC:9871 Unspecified RASA1 +OMIM:166750 skos:exactMatch UMLS:C2750325 Unspecified otodental dysplasia +OMIM:166750 skos:exactMatch UMLS:C1833693 Unspecified otodental dysplasia +OMIM:154780 skos:exactMatch UMLS:C0265235 Unspecified marshall syndrome +OMIM:154780 skos:exactMatch ORPHA:560 Unspecified marshall syndrome +OMIM:139160 skos:exactMatch HGNC:4395 Unspecified GNAZ +OMIM:139160 skos:exactMatch HGNC_symbol:GNAZ Unspecified GNAZ +OMIM:139160 skos:exactMatch UMLS:C1333686 Unspecified GNAZ +OMIM:164009 skos:exactMatch HGNC_symbol:NUMA1 Unspecified NUMA1 +OMIM:164009 skos:exactMatch HGNC:8059 Unspecified NUMA1 +OMIM:164009 skos:exactMatch UMLS:C1834115 Unspecified NUMA1 +OMIM:164009 skos:exactMatch UMLS:C1334911 Unspecified NUMA1 +OMIM:164008 skos:exactMatch UMLS:C2677481 Unspecified NFKBIA +OMIM:164008 skos:exactMatch HGNC:7797 Unspecified NFKBIA +OMIM:164008 skos:exactMatch UMLS:C1334877 Unspecified NFKBIA +OMIM:164008 skos:exactMatch HGNC_symbol:NFKBIA Unspecified NFKBIA +OMIM:164005 skos:exactMatch HGNC_symbol:NFIX Unspecified NFIX +OMIM:164005 skos:exactMatch UMLS:C1417707 Unspecified NFIX +OMIM:164005 skos:exactMatch UMLS:C3553660 Unspecified NFIX +OMIM:164005 skos:exactMatch HGNC:7788 Unspecified NFIX +OMIM:164005 skos:exactMatch UMLS:C0265211 Unspecified NFIX +OMIM:164000 skos:exactMatch UMLS:C1834118 Unspecified nose, anomalous shape of +OMIM:142690 skos:exactMatch UMLS:C4551962 Unspecified acne inversa, familial, 1 +OMIM:142695 skos:exactMatch HGNC_symbol:HDLBP Unspecified HDLBP +OMIM:142695 skos:exactMatch UMLS:C1415507 Unspecified HDLBP +OMIM:142695 skos:exactMatch HGNC:4857 Unspecified HDLBP +OMIM:178640 skos:exactMatch HGNC_symbol:SFTPB Unspecified SFTPB +OMIM:178640 skos:exactMatch UMLS:C1442757 Unspecified SFTPB +OMIM:178640 skos:exactMatch HGNC:10801 Unspecified SFTPB +OMIM:178642 skos:exactMatch HGNC:10799 Unspecified SFTPA2 +OMIM:178642 skos:exactMatch HGNC_symbol:SFTPA2 Unspecified SFTPA2 +OMIM:178642 skos:exactMatch UMLS:C1420003 Unspecified SFTPA2 +OMIM:178635 skos:exactMatch HGNC:10803 Unspecified SFTPD +OMIM:178635 skos:exactMatch HGNC_symbol:SFTPD Unspecified SFTPD +OMIM:178635 skos:exactMatch UMLS:C1442759 Unspecified SFTPD +OMIM:115197 skos:exactMatch UMLS:C1861862 Unspecified cardiomyopathy, familial hypertrophic, 4 +OMIM:115197 skos:exactMatch UMLS:C2751427 Unspecified cardiomyopathy, familial hypertrophic, 4 +OMIM:115196 skos:exactMatch UMLS:C1861863 Unspecified cardiomyopathy, familial hypertrophic, 3 +OMIM:115195 skos:exactMatch UMLS:C1861864 Unspecified cardiomyopathy, familial hypertrophic, 2 +OMIM:178630 skos:exactMatch UMLS:C1420002 Unspecified SFTPA1 +OMIM:178630 skos:exactMatch HGNC:10798 Unspecified SFTPA1 +OMIM:178630 skos:exactMatch HGNC_symbol:SFTPA1 Unspecified SFTPA1 +OMIM:213500 skos:exactMatch UMLS:C1859283 Unspecified cerebral angiopathy, dysphoric +OMIM:103190 skos:exactMatch HGNC_symbol:ARF3 Unspecified ARF3 +OMIM:103190 skos:exactMatch HGNC:654 Unspecified ARF3 +OMIM:103190 skos:exactMatch UMLS:C1412506 Unspecified ARF3 +OMIM:191600 skos:exactMatch UMLS:C0153619 Unspecified ureter, cancer of +OMIM:103195 skos:exactMatch HGNC_symbol:PLIN2 Unspecified PLIN2 +OMIM:103195 skos:exactMatch HGNC:248 Unspecified PLIN2 +OMIM:103195 skos:exactMatch UMLS:C1412234 Unspecified PLIN2 +OMIM:164021 skos:exactMatch UMLS:C1834113 Unspecified +OMIM:164020 skos:exactMatch HGNC_symbol:HNRNPC Unspecified HNRNPC +OMIM:164020 skos:exactMatch HGNC:5035 Unspecified HNRNPC +OMIM:164020 skos:exactMatch UMLS:C1415637 Unspecified HNRNPC +OMIM:140050 skos:exactMatch HGNC_symbol:GZMA Unspecified GZMA +OMIM:140050 skos:exactMatch HGNC:4708 Unspecified GZMA +OMIM:140050 skos:exactMatch UMLS:C1415379 Unspecified GZMA +OMIM:225500 skos:exactMatch UMLS:C0013903 Unspecified ellis-van creveld syndrome +OMIM:176000 skos:exactMatch UMLS:C0268322 Unspecified porphyria, acute intermittent +OMIM:176000 skos:exactMatch UMLS:C2936779 Unspecified porphyria, acute intermittent +OMIM:176000 skos:exactMatch UMLS:C0162565 Unspecified porphyria, acute intermittent +OMIM:176000 skos:exactMatch ORPHA:79276 Unspecified porphyria, acute intermittent +OMIM:103188 skos:exactMatch UMLS:C1412510 Unspecified ARF5 +OMIM:103188 skos:exactMatch HGNC_symbol:ARF5 Unspecified ARF5 +OMIM:103188 skos:exactMatch HGNC:658 Unspecified ARF5 +OMIM:164017 skos:exactMatch UMLS:C1415634 Unspecified HNRNPA1 +OMIM:164017 skos:exactMatch HGNC:5031 Unspecified HNRNPA1 +OMIM:164017 skos:exactMatch HGNC_symbol:HNRNPA1 Unspecified HNRNPA1 +OMIM:164014 skos:exactMatch UMLS:C2986382 Unspecified RELA +OMIM:164014 skos:exactMatch UMLS:C4748997 Unspecified RELA +OMIM:164014 skos:exactMatch HGNC:9955 Unspecified RELA +OMIM:164014 skos:exactMatch UMLS:C1335610 Unspecified RELA +OMIM:164014 skos:exactMatch HGNC_symbol:RELA Unspecified RELA +OMIM:164013 skos:exactMatch HGNC:7802 Unspecified NFRKB +OMIM:164013 skos:exactMatch HGNC_symbol:NFRKB Unspecified NFRKB +OMIM:164013 skos:exactMatch UMLS:C1417713 Unspecified NFRKB +OMIM:164015 skos:exactMatch HGNC_symbol:MATR3 Unspecified MATR3 +OMIM:164015 skos:exactMatch HGNC:6912 Unspecified MATR3 +OMIM:164015 skos:exactMatch UMLS:C1417046 Unspecified MATR3 +OMIM:164010 skos:exactMatch HGNC_symbol:CHMP1A Unspecified CHMP1A +OMIM:164010 skos:exactMatch HGNC:8740 Unspecified CHMP1A +OMIM:164010 skos:exactMatch UMLS:C1418385 Unspecified CHMP1A +OMIM:164010 skos:exactMatch UMLS:C3554209 Unspecified CHMP1A +OMIM:164012 skos:exactMatch UMLS:C3809991 Unspecified NFKB2 +OMIM:164012 skos:exactMatch HGNC:7795 Unspecified NFKB2 +OMIM:164012 skos:exactMatch HGNC_symbol:NFKB2 Unspecified NFKB2 +OMIM:164012 skos:exactMatch UMLS:C0812286 Unspecified NFKB2 +OMIM:164011 skos:exactMatch HGNC:7794 Unspecified NFKB1 +OMIM:164011 skos:exactMatch HGNC_symbol:NFKB1 Unspecified NFKB1 +OMIM:164011 skos:exactMatch UMLS:C4225277 Unspecified NFKB1 +OMIM:164011 skos:exactMatch UMLS:C1417708 Unspecified NFKB1 +OMIM:139080 skos:exactMatch HGNC_symbol:SLC25A16 Unspecified SLC25A16 +OMIM:139080 skos:exactMatch UMLS:C1420157 Unspecified SLC25A16 +OMIM:139080 skos:exactMatch HGNC:10986 Unspecified SLC25A16 +OMIM:178651 skos:exactMatch UMLS:C1867406 Unspecified pulmonic stenosis and deafness +OMIM:178650 skos:exactMatch UMLS:C1867407 Unspecified pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities +OMIM:164040 skos:exactMatch UMLS:C1334894 Unspecified NPM1 +OMIM:164040 skos:exactMatch HGNC:7910 Unspecified NPM1 +OMIM:164040 skos:exactMatch UMLS:C4015936 Unspecified NPM1 +OMIM:164040 skos:exactMatch UMLS:C2986382 Unspecified NPM1 +OMIM:164040 skos:exactMatch HGNC_symbol:NPM1 Unspecified NPM1 +OMIM:139090 skos:exactMatch UMLS:C0272302 Unspecified gray platelet syndrome +OMIM:103180 skos:exactMatch UMLS:C1412504 Unspecified ARF1 +OMIM:103180 skos:exactMatch HGNC_symbol:ARF1 Unspecified ARF1 +OMIM:103180 skos:exactMatch HGNC:652 Unspecified ARF1 +OMIM:103180 skos:exactMatch UMLS:C4748602 Unspecified ARF1 +OMIM:164035 skos:exactMatch HGNC_symbol:NCL Unspecified NCL +OMIM:164035 skos:exactMatch HGNC:7667 Unspecified NCL +OMIM:164035 skos:exactMatch UMLS:C1417613 Unspecified NCL +OMIM:188020 skos:exactMatch UMLS:C0272282 Unspecified thrombocytopenia, cyclic +OMIM:164031 skos:exactMatch HGNC:7867 Unspecified NOP2 +OMIM:164031 skos:exactMatch UMLS:C1417754 Unspecified NOP2 +OMIM:164031 skos:exactMatch HGNC_symbol:NOP2 Unspecified NOP2 +OMIM:188025 skos:exactMatch UMLS:C1956093 Unspecified thrombocytopenia, paris-trousseau iia +OMIM:115150 skos:exactMatch ORPHA:1340 Unspecified cardiofaciocutaneous syndrome 1 +OMIM:115150 skos:exactMatch UMLS:C1275081 Unspecified cardiofaciocutaneous syndrome 1 +OMIM:164060 skos:exactMatch UMLS:C1417595 Unspecified NAP1L1 +OMIM:164060 skos:exactMatch HGNC_symbol:NAP1L1 Unspecified NAP1L1 +OMIM:164060 skos:exactMatch HGNC:7637 Unspecified NAP1L1 +OMIM:164050 skos:exactMatch HGNC:7892 Unspecified PNP +OMIM:164050 skos:exactMatch UMLS:C1417772 Unspecified PNP +OMIM:164050 skos:exactMatch HGNC_symbol:PNP Unspecified PNP +OMIM:188000 skos:exactMatch UMLS:C1861185 Unspecified thrombocytopenia 2 +OMIM:127100 skos:exactMatch UMLS:C1851994 Unspecified dwarfism, levi iia +OMIM:191650 skos:exactMatch UMLS:C0041960 Unspecified ureterocele +OMIM:607803 skos:exactMatch UMLS:C1412118 Unspecified CNNM2 +OMIM:607803 skos:exactMatch HGNC_symbol:CNNM2 Unspecified CNNM2 +OMIM:607803 skos:exactMatch HGNC:103 Unspecified CNNM2 +OMIM:607802 skos:exactMatch HGNC_symbol:CNNM1 Unspecified CNNM1 +OMIM:607802 skos:exactMatch UMLS:C1412117 Unspecified CNNM1 +OMIM:607802 skos:exactMatch HGNC:102 Unspecified CNNM1 +OMIM:607800 skos:exactMatch HGNC:14637 Unspecified ABCA12 +OMIM:607800 skos:exactMatch UMLS:C1422805 Unspecified ABCA12 +OMIM:607800 skos:exactMatch HGNC_symbol:ABCA12 Unspecified ABCA12 +OMIM:607807 skos:exactMatch HGNC_symbol:ABCA13 Unspecified ABCA13 +OMIM:607807 skos:exactMatch HGNC:14638 Unspecified ABCA13 +OMIM:607807 skos:exactMatch UMLS:C1538894 Unspecified ABCA13 +OMIM:607806 skos:exactMatch UMLS:C1426306 Unspecified OTOP1 +OMIM:607806 skos:exactMatch HGNC_symbol:OTOP1 Unspecified OTOP1 +OMIM:607806 skos:exactMatch HGNC:19656 Unspecified OTOP1 +OMIM:607805 skos:exactMatch UMLS:C1412120 Unspecified CNNM4 +OMIM:607805 skos:exactMatch HGNC_symbol:CNNM4 Unspecified CNNM4 +OMIM:607805 skos:exactMatch HGNC:105 Unspecified CNNM4 +OMIM:607804 skos:exactMatch HGNC_symbol:CNNM3 Unspecified CNNM3 +OMIM:607804 skos:exactMatch UMLS:C1412119 Unspecified CNNM3 +OMIM:607804 skos:exactMatch HGNC:104 Unspecified CNNM3 +OMIM:607809 skos:exactMatch HGNC:93 Unspecified ACAT1 +OMIM:607809 skos:exactMatch UMLS:C1412111 Unspecified ACAT1 +OMIM:607809 skos:exactMatch HGNC_symbol:ACAT1 Unspecified ACAT1 +OMIM:607809 skos:exactMatch UMLS:C1536500 Unspecified ACAT1 +OMIM:607808 skos:exactMatch HGNC_symbol:NKX2-4 Unspecified NKX2-4 +OMIM:607808 skos:exactMatch HGNC:7837 Unspecified NKX2-4 +OMIM:607808 skos:exactMatch UMLS:C1417737 Unspecified NKX2-4 +OMIM:188055 skos:exactMatch UMLS:C1861171 Unspecified thrombophilia due to activated protein c resistance +OMIM:308280 skos:exactMatch UMLS:C1839965 Unspecified impacted teeth, multiple +OMIM:188061 skos:exactMatch HGNC_symbol:THBS2 Unspecified THBS2 +OMIM:188061 skos:exactMatch UMLS:C1336627 Unspecified THBS2 +OMIM:188061 skos:exactMatch HGNC:11786 Unspecified THBS2 +OMIM:188060 skos:exactMatch UMLS:C1336626 Unspecified THBS1 +OMIM:188060 skos:exactMatch HGNC:11785 Unspecified THBS1 +OMIM:188060 skos:exactMatch HGNC_symbol:THBS1 Unspecified THBS1 +OMIM:607810 skos:exactMatch HGNC:30908 Unspecified RSAD2 +OMIM:607810 skos:exactMatch UMLS:C1539703 Unspecified RSAD2 +OMIM:607810 skos:exactMatch HGNC_symbol:RSAD2 Unspecified RSAD2 +OMIM:129750 skos:exactMatch UMLS:C0271135 Unspecified ectopia pupillae +OMIM:188062 skos:exactMatch HGNC_symbol:THBS3 Unspecified THBS3 +OMIM:188062 skos:exactMatch UMLS:C1420721 Unspecified THBS3 +OMIM:188062 skos:exactMatch HGNC:11787 Unspecified THBS3 +OMIM:188070 skos:exactMatch HGNC_symbol:TBXA2R Unspecified TBXA2R +OMIM:188070 skos:exactMatch HGNC:11608 Unspecified TBXA2R +OMIM:188070 skos:exactMatch UMLS:C1420619 Unspecified TBXA2R +OMIM:308290 skos:exactMatch UMLS:C1839964 Unspecified imprinting gene related to retinoblastoma +OMIM:176090 skos:exactMatch UMLS:C1867968 Unspecified porphyria cutanea tarda, iia 1 +OMIM:188030 skos:exactMatch UMLS:C0398650 Unspecified thrombocytopenic purpura, autoimmune +OMIM:188035 skos:exactMatch UMLS:C1418782 Unspecified PPBPL1 +OMIM:188035 skos:exactMatch HGNC_symbol:PPBPP1 Unspecified PPBPL1 +OMIM:188035 skos:exactMatch HGNC:9241 Unspecified PPBPL1 +OMIM:103100 skos:exactMatch UMLS:C0001519 Unspecified adie pupil +OMIM:103100 skos:exactMatch ORPHA:454718 Unspecified adie pupil +OMIM:103100 skos:exactMatch UMLS:C0040416 Unspecified adie pupil +OMIM:188040 skos:exactMatch HGNC:11784 Unspecified THBD +OMIM:188040 skos:exactMatch UMLS:C1420720 Unspecified THBD +OMIM:188040 skos:exactMatch HGNC_symbol:THBD Unspecified THBD +OMIM:188050 skos:exactMatch UMLS:C3160733 Unspecified thrombophilia due to thrombin defect +OMIM:607847 skos:exactMatch UMLS:C1842930 Unspecified neutropenia, nonimmune chronic idiopathic, of adults +OMIM:607847 skos:exactMatch ORPHA:2688 Unspecified neutropenia, nonimmune chronic idiopathic, of adults +OMIM:607846 skos:exactMatch HGNC:18272 Unspecified METTL2B +OMIM:607846 skos:exactMatch UMLS:C1825974 Unspecified METTL2B +OMIM:607846 skos:exactMatch HGNC_symbol:METTL2B Unspecified METTL2B +OMIM:607845 skos:exactMatch HGNC_symbol:XPO5 Unspecified XPO5 +OMIM:607845 skos:exactMatch UMLS:C2986382 Unspecified XPO5 +OMIM:607845 skos:exactMatch HGNC:17675 Unspecified XPO5 +OMIM:607845 skos:exactMatch UMLS:C1425032 Unspecified XPO5 +OMIM:607844 skos:exactMatch UMLS:C0265514 Unspecified LEMD3 +OMIM:607844 skos:exactMatch UMLS:C1537562 Unspecified LEMD3 +OMIM:607844 skos:exactMatch HGNC_symbol:LEMD3 Unspecified LEMD3 +OMIM:607844 skos:exactMatch UMLS:C0029455 Unspecified LEMD3 +OMIM:607844 skos:exactMatch HGNC:28887 Unspecified LEMD3 +OMIM:607844 skos:exactMatch UMLS:C3149399 Unspecified LEMD3 +OMIM:607844 skos:exactMatch UMLS:C3149695 Unspecified LEMD3 +OMIM:607844 skos:exactMatch UMLS:C5394581 Unspecified LEMD3 +OMIM:607849 skos:exactMatch HGNC_symbol:RDH11 Unspecified RDH11 +OMIM:607849 skos:exactMatch HGNC:17964 Unspecified RDH11 +OMIM:607849 skos:exactMatch UMLS:C1425207 Unspecified RDH11 +OMIM:607848 skos:exactMatch UMLS:C1428950 Unspecified RILP +OMIM:607848 skos:exactMatch HGNC:30266 Unspecified RILP +OMIM:607848 skos:exactMatch HGNC_symbol:RILP Unspecified RILP +OMIM:619830 skos:exactMatch HGNC:33185 Unspecified DBX1 +OMIM:619830 skos:exactMatch HGNC_symbol:DBX1 Unspecified DBX1 +OMIM:619823 skos:exactMatch HGNC_symbol:ANP32B Unspecified ANP32B +OMIM:619823 skos:exactMatch HGNC:16677 Unspecified ANP32B +OMIM:619829 skos:exactMatch HGNC:29296 Unspecified CCDC146 +OMIM:619829 skos:exactMatch HGNC_symbol:CCDC146 Unspecified CCDC146 +OMIM:607850 skos:exactMatch UMLS:C2675609 Unspecified osteoarthritis susceptibility 3 +OMIM:607854 skos:exactMatch UMLS:C5435648 Unspecified BEST1 +OMIM:607854 skos:exactMatch UMLS:C2750789 Unspecified BEST1 +OMIM:607854 skos:exactMatch HGNC_symbol:BEST1 Unspecified BEST1 +OMIM:607854 skos:exactMatch UMLS:C3888099 Unspecified BEST1 +OMIM:607854 skos:exactMatch UMLS:C3888198 Unspecified BEST1 +OMIM:607854 skos:exactMatch HGNC:12703 Unspecified BEST1 +OMIM:607854 skos:exactMatch UMLS:C1826421 Unspecified BEST1 +OMIM:607854 skos:exactMatch UMLS:C0339510 Unspecified BEST1 +OMIM:607853 skos:exactMatch UMLS:C1842922 Unspecified panic disorder 2 +OMIM:607852 skos:exactMatch HGNC_symbol:NKD2 Unspecified NKD2 +OMIM:607852 skos:exactMatch UMLS:C1424707 Unspecified NKD2 +OMIM:607852 skos:exactMatch HGNC:17046 Unspecified NKD2 +OMIM:607851 skos:exactMatch HGNC_symbol:NKD1 Unspecified NKD1 +OMIM:607851 skos:exactMatch UMLS:C1424706 Unspecified NKD1 +OMIM:607851 skos:exactMatch HGNC:17045 Unspecified NKD1 +OMIM:607836 skos:exactMatch UMLS:C1842979 Unspecified autoimmune disease, susceptibility to, 1 +OMIM:607835 skos:exactMatch UMLS:C1842980 Unspecified SF3B6 +OMIM:607835 skos:exactMatch HGNC:30096 Unspecified SF3B6 +OMIM:607835 skos:exactMatch HGNC_symbol:SF3B6 Unspecified SF3B6 +OMIM:607834 skos:exactMatch UMLS:C0679771 Unspecified anxiety +OMIM:607834 skos:exactMatch UMLS:C0003467 Unspecified anxiety +OMIM:607833 skos:exactMatch HGNC_symbol:TAC4 Unspecified TAC4 +OMIM:607833 skos:exactMatch HGNC:16641 Unspecified TAC4 +OMIM:607833 skos:exactMatch UMLS:C1424459 Unspecified TAC4 +OMIM:607839 skos:exactMatch HGNC_symbol:GBE1 Unspecified GBE1 +OMIM:607839 skos:exactMatch HGNC:4180 Unspecified GBE1 +OMIM:607839 skos:exactMatch UMLS:C1415001 Unspecified GBE1 +OMIM:607838 skos:exactMatch HGNC:23026 Unspecified GNPTG +OMIM:607838 skos:exactMatch HGNC_symbol:GNPTG Unspecified GNPTG +OMIM:607838 skos:exactMatch UMLS:C1427860 Unspecified GNPTG +OMIM:607837 skos:exactMatch HGNC:2079 Unspecified CLN8 +OMIM:607837 skos:exactMatch UMLS:C1838570 Unspecified CLN8 +OMIM:607837 skos:exactMatch HGNC_symbol:CLN8 Unspecified CLN8 +OMIM:607837 skos:exactMatch UMLS:C1413500 Unspecified CLN8 +OMIM:607837 skos:exactMatch UMLS:C1864923 Unspecified CLN8 +OMIM:619821 skos:exactMatch HGNC:26640 Unspecified ENDOV +OMIM:619821 skos:exactMatch HGNC_symbol:ENDOV Unspecified ENDOV +OMIM:619822 skos:exactMatch HGNC:17164 Unspecified BCL2L13 +OMIM:619822 skos:exactMatch HGNC_symbol:BCL2L13 Unspecified BCL2L13 +OMIM:619820 skos:exactMatch HGNC_symbol:ATOH8 Unspecified ATOH8 +OMIM:619820 skos:exactMatch HGNC:24126 Unspecified ATOH8 +OMIM:619815 skos:exactMatch HGNC_symbol:ATP10D Unspecified ATP10D +OMIM:619815 skos:exactMatch HGNC:13549 Unspecified ATP10D +OMIM:619818 skos:exactMatch HGNC:28691 Unspecified ELOF1 +OMIM:619818 skos:exactMatch HGNC_symbol:ELOF1 Unspecified ELOF1 +OMIM:619819 skos:exactMatch HGNC_symbol:ZC3H7A Unspecified ZC3H7A +OMIM:619819 skos:exactMatch HGNC:30959 Unspecified ZC3H7A +OMIM:607843 skos:exactMatch HGNC:20313 Unspecified PKHD1L1 +OMIM:607843 skos:exactMatch UMLS:C1426851 Unspecified PKHD1L1 +OMIM:607843 skos:exactMatch HGNC_symbol:PKHD1L1 Unspecified PKHD1L1 +OMIM:607842 skos:exactMatch UMLS:C1842937 Unspecified aural atresia, congenital +OMIM:607842 skos:exactMatch ORPHA:141074 Unspecified aural atresia, congenital +OMIM:607841 skos:exactMatch UMLS:C1842939 Unspecified deafness, autosomal dominant 48 +OMIM:607840 skos:exactMatch UMLS:C1825380 Unspecified GNPTAB +OMIM:607840 skos:exactMatch HGNC:29670 Unspecified GNPTAB +OMIM:607840 skos:exactMatch HGNC_symbol:GNPTAB Unspecified GNPTAB +OMIM:607825 skos:exactMatch HGNC:23576 Unspecified HOOK3 +OMIM:607825 skos:exactMatch HGNC_symbol:HOOK3 Unspecified HOOK3 +OMIM:607825 skos:exactMatch UMLS:C1428139 Unspecified HOOK3 +OMIM:607824 skos:exactMatch HGNC_symbol:HOOK2 Unspecified HOOK2 +OMIM:607824 skos:exactMatch HGNC:19885 Unspecified HOOK2 +OMIM:607824 skos:exactMatch UMLS:C1426506 Unspecified HOOK2 +OMIM:607823 skos:exactMatch UMLS:C1843004 Unspecified hypotrichosis-lymphedema-telangiectasia syndrome +OMIM:607822 skos:exactMatch UMLS:C1843013 Unspecified alzheimer disease 3 +OMIM:607822 skos:exactMatch UMLS:C1843014 Unspecified alzheimer disease 3 +OMIM:607822 skos:exactMatch UMLS:C1843015 Unspecified alzheimer disease 3 +OMIM:607829 skos:exactMatch UMLS:C1843003 Unspecified mitral valve prolapse 2 +OMIM:607828 skos:exactMatch HGNC:19658 Unspecified OTOP3 +OMIM:607828 skos:exactMatch UMLS:C1426308 Unspecified OTOP3 +OMIM:607828 skos:exactMatch HGNC_symbol:OTOP3 Unspecified OTOP3 +OMIM:607827 skos:exactMatch HGNC:19657 Unspecified OTOP2 +OMIM:607827 skos:exactMatch UMLS:C1426307 Unspecified OTOP2 +OMIM:607827 skos:exactMatch HGNC_symbol:OTOP2 Unspecified OTOP2 +OMIM:607826 skos:exactMatch HGNC_symbol:AHCYL1 Unspecified AHCYL1 +OMIM:607826 skos:exactMatch HGNC:344 Unspecified AHCYL1 +OMIM:607826 skos:exactMatch UMLS:C1412292 Unspecified AHCYL1 +OMIM:619811 skos:exactMatch HGNC_symbol:UHRF1BP1L Unspecified UHRF1BP1L +OMIM:619811 skos:exactMatch HGNC:29102 Unspecified UHRF1BP1L +OMIM:619801 skos:exactMatch HGNC_symbol:POLR3H Unspecified POLR3H +OMIM:619801 skos:exactMatch HGNC:30349 Unspecified POLR3H +OMIM:619807 skos:exactMatch HGNC:30434 Unspecified MYBPHL +OMIM:619807 skos:exactMatch HGNC_symbol:MYBPHL Unspecified MYBPHL +OMIM:619809 skos:exactMatch HGNC:28183 Unspecified UGT2A2 +OMIM:619809 skos:exactMatch HGNC_symbol:UGT2A2 Unspecified UGT2A2 +OMIM:607832 skos:exactMatch UMLS:C1842982 Unspecified focal segmental glomerulosclerosis 3, susceptibility to +OMIM:607831 skos:exactMatch UMLS:C1842983 Unspecified charcot-marie-tooth disease, axonal, iia 2k +OMIM:607831 skos:exactMatch UMLS:C1842984 Unspecified charcot-marie-tooth disease, axonal, iia 2k +OMIM:607830 skos:exactMatch UMLS:C1426074 Unspecified FRAS1 +OMIM:607830 skos:exactMatch HGNC_symbol:FRAS1 Unspecified FRAS1 +OMIM:607830 skos:exactMatch HGNC:19185 Unspecified FRAS1 +OMIM:607814 skos:exactMatch HGNC:30304 Unspecified RGS9BP +OMIM:607814 skos:exactMatch UMLS:C1826821 Unspecified RGS9BP +OMIM:607814 skos:exactMatch HGNC_symbol:RGS9BP Unspecified RGS9BP +OMIM:607813 skos:exactMatch UMLS:C1843041 Unspecified PLPPR4 +OMIM:607813 skos:exactMatch HGNC:23496 Unspecified PLPPR4 +OMIM:607813 skos:exactMatch HGNC_symbol:PLPPR4 Unspecified PLPPR4 +OMIM:607812 skos:exactMatch UMLS:C1843042 Unspecified craniolenticulosutural dysplasia +OMIM:607811 skos:exactMatch UMLS:C1427187 Unspecified PAK1IP1 +OMIM:607811 skos:exactMatch HGNC:20882 Unspecified PAK1IP1 +OMIM:607811 skos:exactMatch HGNC_symbol:PAK1IP1 Unspecified PAK1IP1 +OMIM:607818 skos:exactMatch UMLS:C1425371 Unspecified ZNF365 +OMIM:607818 skos:exactMatch UMLS:C2700426 Unspecified ZNF365 +OMIM:607818 skos:exactMatch HGNC:18194 Unspecified ZNF365 +OMIM:607818 skos:exactMatch HGNC_symbol:ZNF365 Unspecified ZNF365 +OMIM:607817 skos:exactMatch HGNC_symbol:VPS13B Unspecified VPS13B +OMIM:607817 skos:exactMatch UMLS:C1540183 Unspecified VPS13B +OMIM:607817 skos:exactMatch HGNC:2183 Unspecified VPS13B +OMIM:607816 skos:exactMatch HGNC_symbol:PCGF6 Unspecified PCGF6 +OMIM:607816 skos:exactMatch UMLS:C1538602 Unspecified PCGF6 +OMIM:607816 skos:exactMatch HGNC:21156 Unspecified PCGF6 +OMIM:607815 skos:exactMatch HGNC_symbol:ANKS1B Unspecified ANKS1B +OMIM:607815 skos:exactMatch HGNC:24600 Unspecified ANKS1B +OMIM:607815 skos:exactMatch UMLS:C1823694 Unspecified ANKS1B +OMIM:607819 skos:exactMatch HGNC_symbol:SLC30A5 Unspecified SLC30A5 +OMIM:607819 skos:exactMatch HGNC:19089 Unspecified SLC30A5 +OMIM:607819 skos:exactMatch UMLS:C1426005 Unspecified SLC30A5 +OMIM:619800 skos:exactMatch HGNC_symbol:HMGXB3 Unspecified HMGXB3 +OMIM:619800 skos:exactMatch HGNC:28982 Unspecified HMGXB3 +OMIM:117700 skos:exactMatch HGNC_symbol:CP Unspecified CP +OMIM:117700 skos:exactMatch UMLS:C1439306 Unspecified CP +OMIM:117700 skos:exactMatch HGNC:2295 Unspecified CP +OMIM:607821 skos:exactMatch UMLS:C1843028 Unspecified deafness, autosomal recessive 37 +OMIM:607820 skos:exactMatch HGNC_symbol:HOOK1 Unspecified HOOK1 +OMIM:607820 skos:exactMatch HGNC:19884 Unspecified HOOK1 +OMIM:607820 skos:exactMatch UMLS:C1426505 Unspecified HOOK1 +OMIM:605349 skos:exactMatch HGNC:29916 Unspecified NARF +OMIM:605349 skos:exactMatch HGNC_symbol:NARF Unspecified NARF +OMIM:605349 skos:exactMatch UMLS:C1826349 Unspecified NARF +OMIM:605347 skos:exactMatch UMLS:C1425478 Unspecified PADI4 +OMIM:605347 skos:exactMatch HGNC_symbol:PADI4 Unspecified PADI4 +OMIM:605347 skos:exactMatch HGNC:18368 Unspecified PADI4 +OMIM:605348 skos:exactMatch UMLS:C1823310 Unspecified TMEM50A +OMIM:605348 skos:exactMatch HGNC:30590 Unspecified TMEM50A +OMIM:605348 skos:exactMatch HGNC_symbol:TMEM50A Unspecified TMEM50A +OMIM:617330 skos:exactMatch UMLS:C4310618 Unspecified hypotonia, ataxia, and delayed development syndrome +OMIM:617332 skos:exactMatch HGNC:26675 Unspecified TERB1 +OMIM:617332 skos:exactMatch HGNC_symbol:TERB1 Unspecified TERB1 +OMIM:617332 skos:exactMatch UMLS:C1824604 Unspecified TERB1 +OMIM:617331 skos:exactMatch HGNC_symbol:MFSD4B Unspecified MFSD4B +OMIM:617331 skos:exactMatch HGNC:21053 Unspecified MFSD4B +OMIM:617331 skos:exactMatch UMLS:C1427275 Unspecified MFSD4B +OMIM:617334 skos:exactMatch UMLS:C1428728 Unspecified ZDHHC23 +OMIM:617334 skos:exactMatch HGNC:28654 Unspecified ZDHHC23 +OMIM:617334 skos:exactMatch HGNC_symbol:ZDHHC23 Unspecified ZDHHC23 +OMIM:617333 skos:exactMatch UMLS:C4310617 Unspecified intellectual developmental disorder with dysmorphic facies and ptosis +OMIM:617336 skos:exactMatch UMLS:C4479186 Unspecified nemaline myopathy 11, autosomal recessive +OMIM:617335 skos:exactMatch UMLS:C1539325 Unspecified EBPL +OMIM:617335 skos:exactMatch HGNC:18061 Unspecified EBPL +OMIM:617335 skos:exactMatch HGNC_symbol:EBPL Unspecified EBPL +OMIM:617327 skos:exactMatch HGNC_symbol:SHISA6 Unspecified SHISA6 +OMIM:617327 skos:exactMatch HGNC:34491 Unspecified SHISA6 +OMIM:617327 skos:exactMatch UMLS:C2828683 Unspecified SHISA6 +OMIM:617326 skos:exactMatch HGNC_symbol:SHISA4 Unspecified SHISA4 +OMIM:617326 skos:exactMatch HGNC:27139 Unspecified SHISA4 +OMIM:617326 skos:exactMatch UMLS:C2680379 Unspecified SHISA4 +OMIM:617329 skos:exactMatch HGNC:18351 Unspecified SHISA8 +OMIM:617329 skos:exactMatch HGNC_symbol:SHISA8 Unspecified SHISA8 +OMIM:617329 skos:exactMatch UMLS:C1425465 Unspecified SHISA8 +OMIM:225290 skos:exactMatch UMLS:C1857040 Unspecified ectrodactyly-polydactyly +OMIM:617328 skos:exactMatch HGNC:35409 Unspecified SHISA7 +OMIM:617328 skos:exactMatch HGNC_symbol:SHISA7 Unspecified SHISA7 +OMIM:617328 skos:exactMatch UMLS:C2828684 Unspecified SHISA7 +OMIM:274210 skos:exactMatch UMLS:C1848815 Unspecified thymic aplasia with fetal death +OMIM:605352 skos:exactMatch HGNC:16982 Unspecified MFHAS1 +OMIM:605352 skos:exactMatch UMLS:C1334503 Unspecified MFHAS1 +OMIM:605352 skos:exactMatch HGNC_symbol:MFHAS1 Unspecified MFHAS1 +OMIM:605353 skos:exactMatch HGNC_symbol:GHRL Unspecified GHRL +OMIM:605353 skos:exactMatch HGNC:18129 Unspecified GHRL +OMIM:605353 skos:exactMatch UMLS:C1825346 Unspecified GHRL +OMIM:605350 skos:exactMatch UMLS:C1424880 Unspecified IL27RA +OMIM:605350 skos:exactMatch HGNC:17290 Unspecified IL27RA +OMIM:605350 skos:exactMatch HGNC_symbol:IL27RA Unspecified IL27RA +OMIM:605351 skos:exactMatch HGNC_symbol:FGL2 Unspecified FGL2 +OMIM:605351 skos:exactMatch HGNC:3696 Unspecified FGL2 +OMIM:605351 skos:exactMatch UMLS:C1414609 Unspecified FGL2 +OMIM:605356 skos:exactMatch HGNC:12852 Unspecified YWHAG +OMIM:605356 skos:exactMatch HGNC_symbol:YWHAG Unspecified YWHAG +OMIM:605356 skos:exactMatch UMLS:C1421561 Unspecified YWHAG +OMIM:605356 skos:exactMatch UMLS:C4540034 Unspecified YWHAG +OMIM:605357 skos:exactMatch UMLS:C1823135 Unspecified STON1 +OMIM:605357 skos:exactMatch HGNC_symbol:STON1 Unspecified STON1 +OMIM:605357 skos:exactMatch HGNC:17003 Unspecified STON1 +OMIM:605357 skos:exactMatch UMLS:C1854378 Unspecified STON1 +OMIM:605354 skos:exactMatch HGNC:28861 Unspecified CARD18 +OMIM:605354 skos:exactMatch UMLS:C1854396 Unspecified CARD18 +OMIM:605354 skos:exactMatch HGNC_symbol:CARD18 Unspecified CARD18 +OMIM:605355 skos:exactMatch ORPHA:98902 Unspecified nemaline myopathy 5 +OMIM:605355 skos:exactMatch UMLS:C1854380 Unspecified nemaline myopathy 5 +OMIM:605338 skos:exactMatch UMLS:C1416431 Unspecified INA +OMIM:605338 skos:exactMatch HGNC_symbol:INA Unspecified INA +OMIM:605338 skos:exactMatch HGNC:6057 Unspecified INA +OMIM:605339 skos:exactMatch UMLS:C1414873 Unspecified FXR2 +OMIM:605339 skos:exactMatch HGNC_symbol:FXR2 Unspecified FXR2 +OMIM:605339 skos:exactMatch HGNC:4024 Unspecified FXR2 +OMIM:605336 skos:exactMatch HGNC_symbol:CFHR3 Unspecified CFHR3 +OMIM:605336 skos:exactMatch HGNC:16980 Unspecified CFHR3 +OMIM:605336 skos:exactMatch UMLS:C1538444 Unspecified CFHR3 +OMIM:607999 skos:exactMatch HGNC_symbol:ASH1L Unspecified ASH1L +OMIM:607999 skos:exactMatch UMLS:C1426004 Unspecified ASH1L +OMIM:607999 skos:exactMatch HGNC:19088 Unspecified ASH1L +OMIM:607998 skos:exactMatch HGNC_symbol:TPP1 Unspecified TPP1 +OMIM:607998 skos:exactMatch UMLS:C1540042 Unspecified TPP1 +OMIM:607998 skos:exactMatch HGNC:2073 Unspecified TPP1 +OMIM:605337 skos:exactMatch HGNC_symbol:CFHR4 Unspecified CFHR4 +OMIM:605337 skos:exactMatch HGNC:16979 Unspecified CFHR4 +OMIM:605337 skos:exactMatch UMLS:C1538445 Unspecified CFHR4 +OMIM:617321 skos:exactMatch UMLS:C4310620 Unspecified yao syndrome +OMIM:617320 skos:exactMatch UMLS:C4310621 Unspecified ichthyosis, congenital, autosomal recessive 12 +OMIM:617323 skos:exactMatch UMLS:C4310619 Unspecified intellectual developmental disorder, autosomal recessive 59 +OMIM:617322 skos:exactMatch HGNC_symbol:SHKBP1 Unspecified SHKBP1 +OMIM:617322 skos:exactMatch UMLS:C1539768 Unspecified SHKBP1 +OMIM:617322 skos:exactMatch HGNC:19214 Unspecified SHKBP1 +OMIM:617325 skos:exactMatch HGNC_symbol:SHISA3 Unspecified SHISA3 +OMIM:617325 skos:exactMatch HGNC:25159 Unspecified SHISA3 +OMIM:617325 skos:exactMatch UMLS:C2680378 Unspecified SHISA3 +OMIM:617324 skos:exactMatch HGNC_symbol:SHISA2 Unspecified SHISA2 +OMIM:617324 skos:exactMatch HGNC:20366 Unspecified SHISA2 +OMIM:617324 skos:exactMatch UMLS:C1540020 Unspecified SHISA2 +OMIM:225280 skos:exactMatch UMLS:C1857041 Unspecified ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome +OMIM:225280 skos:exactMatch ORPHA:1897 Unspecified ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome +OMIM:617316 skos:exactMatch HGNC_symbol:TP53TG5 Unspecified TP53TG5 +OMIM:617316 skos:exactMatch HGNC:15856 Unspecified TP53TG5 +OMIM:617316 skos:exactMatch UMLS:C1423778 Unspecified TP53TG5 +OMIM:249270 skos:exactMatch ORPHA:49827 Unspecified thiamine-responsive megaloblastic anemia syndrome +OMIM:249270 skos:exactMatch UMLS:C0342287 Unspecified thiamine-responsive megaloblastic anemia syndrome +OMIM:617315 skos:exactMatch UMLS:C4310623 Unspecified anterior segment dysgenesis 6 +OMIM:617318 skos:exactMatch HGNC:17153 Unspecified RUSC1 +OMIM:617318 skos:exactMatch HGNC_symbol:RUSC1 Unspecified RUSC1 +OMIM:617318 skos:exactMatch UMLS:C1424781 Unspecified RUSC1 +OMIM:617317 skos:exactMatch HGNC:29555 Unspecified ZFP30 +OMIM:617317 skos:exactMatch UMLS:C1823948 Unspecified ZFP30 +OMIM:617317 skos:exactMatch HGNC_symbol:ZFP30 Unspecified ZFP30 +OMIM:617319 skos:exactMatch UMLS:C4310622 Unspecified anterior segment dysgenesis 8 +OMIM:250250 skos:exactMatch UMLS:C0220748 Unspecified cartilage-hair hypoplasia +OMIM:274200 skos:exactMatch UMLS:C1848817 Unspecified thumb, distal hyperextensibility of +OMIM:605341 skos:exactMatch UMLS:C1426911 Unspecified PILRA +OMIM:605341 skos:exactMatch HGNC_symbol:PILRA Unspecified PILRA +OMIM:605341 skos:exactMatch HGNC:20396 Unspecified PILRA +OMIM:605342 skos:exactMatch UMLS:C1425430 Unspecified PILRB +OMIM:605342 skos:exactMatch HGNC:18297 Unspecified PILRB +OMIM:605342 skos:exactMatch HGNC_symbol:PILRB Unspecified PILRB +OMIM:605340 skos:exactMatch UMLS:C1413884 Unspecified CYP3A7 +OMIM:605340 skos:exactMatch HGNC:2640 Unspecified CYP3A7 +OMIM:605340 skos:exactMatch HGNC_symbol:CYP3A7 Unspecified CYP3A7 +OMIM:605345 skos:exactMatch UMLS:C1823174 Unspecified ALKBH1 +OMIM:605345 skos:exactMatch HGNC:17911 Unspecified ALKBH1 +OMIM:605345 skos:exactMatch HGNC_symbol:ALKBH1 Unspecified ALKBH1 +OMIM:274205 skos:exactMatch UMLS:C1848816 Unspecified thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness +OMIM:605343 skos:exactMatch UMLS:C1333581 Unspecified FSTL3 +OMIM:605343 skos:exactMatch HGNC_symbol:FSTL3 Unspecified FSTL3 +OMIM:605343 skos:exactMatch HGNC:3973 Unspecified FSTL3 +OMIM:605344 skos:exactMatch HGNC:7806 Unspecified NFYC +OMIM:605344 skos:exactMatch UMLS:C1417717 Unspecified NFYC +OMIM:605344 skos:exactMatch HGNC_symbol:NFYC Unspecified NFYC +OMIM:605327 skos:exactMatch UMLS:C1417706 Unspecified NFIL3 +OMIM:605327 skos:exactMatch HGNC:7787 Unspecified NFIL3 +OMIM:605327 skos:exactMatch HGNC_symbol:NFIL3 Unspecified NFIL3 +OMIM:605328 skos:exactMatch HGNC_symbol:KLF13 Unspecified KLF13 +OMIM:605328 skos:exactMatch HGNC:13672 Unspecified KLF13 +OMIM:605328 skos:exactMatch UMLS:C1422139 Unspecified KLF13 +OMIM:607989 skos:exactMatch HGNC_symbol:SPOCK3 Unspecified SPOCK3 +OMIM:607989 skos:exactMatch HGNC:13565 Unspecified SPOCK3 +OMIM:607989 skos:exactMatch UMLS:C1422068 Unspecified SPOCK3 +OMIM:607988 skos:exactMatch HGNC_symbol:SPOCK2 Unspecified SPOCK2 +OMIM:607988 skos:exactMatch HGNC:13564 Unspecified SPOCK2 +OMIM:607988 skos:exactMatch UMLS:C1422067 Unspecified SPOCK2 +OMIM:605325 skos:exactMatch HGNC:2638 Unspecified CYP3A5 +OMIM:605325 skos:exactMatch HGNC_symbol:CYP3A5 Unspecified CYP3A5 +OMIM:605325 skos:exactMatch UMLS:C1413882 Unspecified CYP3A5 +OMIM:607987 skos:exactMatch HGNC_symbol:DNAJC10 Unspecified DNAJC10 +OMIM:607987 skos:exactMatch UMLS:C1539295 Unspecified DNAJC10 +OMIM:607987 skos:exactMatch HGNC:24637 Unspecified DNAJC10 +OMIM:605326 skos:exactMatch HGNC:11575 Unspecified TAX1BP1 +OMIM:605326 skos:exactMatch UMLS:C1420591 Unspecified TAX1BP1 +OMIM:605326 skos:exactMatch HGNC_symbol:TAX1BP1 Unspecified TAX1BP1 +OMIM:617310 skos:exactMatch HGNC:29422 Unspecified ANKS3 +OMIM:617310 skos:exactMatch UMLS:C1823695 Unspecified ANKS3 +OMIM:617310 skos:exactMatch HGNC_symbol:ANKS3 Unspecified ANKS3 +OMIM:617312 skos:exactMatch HGNC:29320 Unspecified FAM160B1 +OMIM:617312 skos:exactMatch UMLS:C1428835 Unspecified FAM160B1 +OMIM:617312 skos:exactMatch HGNC_symbol:FHIP2A Unspecified FAM160B1 +OMIM:617311 skos:exactMatch UMLS:C2681130 Unspecified ZG16 +OMIM:617311 skos:exactMatch HGNC_symbol:ZG16 Unspecified ZG16 +OMIM:617311 skos:exactMatch HGNC:30961 Unspecified ZG16 +OMIM:617314 skos:exactMatch UMLS:C1428870 Unspecified SH3YL1 +OMIM:617314 skos:exactMatch HGNC:29546 Unspecified SH3YL1 +OMIM:617314 skos:exactMatch HGNC_symbol:SH3YL1 Unspecified SH3YL1 +OMIM:617313 skos:exactMatch UMLS:C1822718 Unspecified SHF +OMIM:617313 skos:exactMatch HGNC:25116 Unspecified SHF +OMIM:617313 skos:exactMatch HGNC_symbol:SHF Unspecified SHF +OMIM:617305 skos:exactMatch HGNC_symbol:CALHM6 Unspecified FAM26F +OMIM:617305 skos:exactMatch HGNC:33391 Unspecified FAM26F +OMIM:617305 skos:exactMatch UMLS:C2239395 Unspecified FAM26F +OMIM:617304 skos:exactMatch UMLS:C4310626 Unspecified retinitis pigmentosa 77 +OMIM:617307 skos:exactMatch HGNC:19849 Unspecified C14ORF39 +OMIM:617307 skos:exactMatch UMLS:C1426476 Unspecified C14ORF39 +OMIM:617307 skos:exactMatch HGNC_symbol:C14orf39 Unspecified C14ORF39 +OMIM:617306 skos:exactMatch UMLS:C4310625 Unspecified coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness +OMIM:617309 skos:exactMatch HGNC:24607 Unspecified IGFN1 +OMIM:617309 skos:exactMatch HGNC_symbol:IGFN1 Unspecified IGFN1 +OMIM:617309 skos:exactMatch UMLS:C2239526 Unspecified IGFN1 +OMIM:249240 skos:exactMatch UMLS:C1855309 Unspecified megalencephaly with dysmyelination +OMIM:617308 skos:exactMatch UMLS:C4310624 Unspecified bile acid synthesis defect, congenital, 6 +OMIM:605330 skos:exactMatch HGNC:14900 Unspecified IL22 +OMIM:605330 skos:exactMatch UMLS:C1423038 Unspecified IL22 +OMIM:605330 skos:exactMatch HGNC_symbol:IL22 Unspecified IL22 +OMIM:607993 skos:exactMatch HGNC_symbol:SUGP2 Unspecified SUGP2 +OMIM:607993 skos:exactMatch UMLS:C1425670 Unspecified SUGP2 +OMIM:607993 skos:exactMatch HGNC:18641 Unspecified SUGP2 +OMIM:605331 skos:exactMatch UMLS:C1414425 Unspecified EPB41L3 +OMIM:605331 skos:exactMatch HGNC_symbol:EPB41L3 Unspecified EPB41L3 +OMIM:605331 skos:exactMatch HGNC:3380 Unspecified EPB41L3 +OMIM:607992 skos:exactMatch HGNC_symbol:SUGP1 Unspecified SUGP1 +OMIM:607992 skos:exactMatch UMLS:C1425671 Unspecified SUGP1 +OMIM:607992 skos:exactMatch HGNC:18643 Unspecified SUGP1 +OMIM:607991 skos:exactMatch HGNC:11070 Unspecified SLC8A3 +OMIM:607991 skos:exactMatch UMLS:C1420231 Unspecified SLC8A3 +OMIM:607991 skos:exactMatch HGNC_symbol:SLC8A3 Unspecified SLC8A3 +OMIM:250220 skos:exactMatch ORPHA:93317 Unspecified spondylometaphyseal dysplasia, sedaghatian iia +OMIM:250220 skos:exactMatch UMLS:C1855229 Unspecified spondylometaphyseal dysplasia, sedaghatian iia +OMIM:607990 skos:exactMatch HGNC:12556 Unspecified UHRF1 +OMIM:607990 skos:exactMatch HGNC_symbol:UHRF1 Unspecified UHRF1 +OMIM:607990 skos:exactMatch UMLS:C1421348 Unspecified UHRF1 +OMIM:607997 skos:exactMatch HGNC_symbol:NPW Unspecified NPW +OMIM:607997 skos:exactMatch HGNC:30509 Unspecified NPW +OMIM:607997 skos:exactMatch UMLS:C1826469 Unspecified NPW +OMIM:607996 skos:exactMatch HGNC:30099 Unspecified None +OMIM:607996 skos:exactMatch HGNC_symbol:NPB Unspecified None +OMIM:607996 skos:exactMatch UMLS:C1826460 Unspecified None +OMIM:607996 skos:exactMatch UMLS:C1842744 Unspecified None +OMIM:607996 skos:exactMatch UMLS:C1842743 Unspecified None +OMIM:605335 skos:exactMatch HGNC_symbol:PHLDA1 Unspecified PHLDA1 +OMIM:605335 skos:exactMatch HGNC:8933 Unspecified PHLDA1 +OMIM:605335 skos:exactMatch UMLS:C1418540 Unspecified PHLDA1 +OMIM:605332 skos:exactMatch UMLS:C1416664 Unspecified KLHL1 +OMIM:605332 skos:exactMatch HGNC:6352 Unspecified KLHL1 +OMIM:605332 skos:exactMatch HGNC_symbol:KLHL1 Unspecified KLHL1 +OMIM:607995 skos:exactMatch HGNC_symbol:UNC93A Unspecified UNC93A +OMIM:607995 skos:exactMatch HGNC:12570 Unspecified UNC93A +OMIM:607995 skos:exactMatch UMLS:C1421360 Unspecified UNC93A +OMIM:607994 skos:exactMatch HGNC:30654 Unspecified XRN1 +OMIM:607994 skos:exactMatch UMLS:C1538124 Unspecified XRN1 +OMIM:607994 skos:exactMatch HGNC_symbol:XRN1 Unspecified XRN1 +OMIM:605333 skos:exactMatch HGNC:20418 Unspecified PDS5B +OMIM:605333 skos:exactMatch UMLS:C1332105 Unspecified PDS5B +OMIM:605333 skos:exactMatch HGNC_symbol:PDS5B Unspecified PDS5B +OMIM:607979 skos:exactMatch UMLS:C1422627 Unspecified SERHL +OMIM:607979 skos:exactMatch HGNC:14408 Unspecified SERHL +OMIM:607979 skos:exactMatch HGNC_symbol:SERHL Unspecified SERHL +OMIM:607978 skos:exactMatch UMLS:C1419812 Unspecified SAMSN1 +OMIM:607978 skos:exactMatch HGNC:10528 Unspecified SAMSN1 +OMIM:607978 skos:exactMatch HGNC_symbol:SAMSN1 Unspecified SAMSN1 +OMIM:605317 skos:exactMatch UMLS:C1422249 Unspecified FOXP2 +OMIM:605317 skos:exactMatch UMLS:C0750927 Unspecified FOXP2 +OMIM:605317 skos:exactMatch HGNC_symbol:FOXP2 Unspecified FOXP2 +OMIM:605317 skos:exactMatch HGNC:13875 Unspecified FOXP2 +OMIM:605314 skos:exactMatch HGNC_symbol:HDAC4 Unspecified HDAC4 +OMIM:605314 skos:exactMatch UMLS:C4015968 Unspecified HDAC4 +OMIM:605314 skos:exactMatch HGNC:14063 Unspecified HDAC4 +OMIM:605314 skos:exactMatch UMLS:C1333893 Unspecified HDAC4 +OMIM:607977 skos:exactMatch HGNC:21041 Unspecified HECA +OMIM:607977 skos:exactMatch UMLS:C1427267 Unspecified HECA +OMIM:607977 skos:exactMatch HGNC_symbol:HECA Unspecified HECA +OMIM:605315 skos:exactMatch HGNC_symbol:HDAC5 Unspecified HDAC5 +OMIM:605315 skos:exactMatch HGNC:14068 Unspecified HDAC5 +OMIM:605315 skos:exactMatch UMLS:C1333894 Unspecified HDAC5 +OMIM:607976 skos:exactMatch HGNC:16232 Unspecified COX4I2 +OMIM:607976 skos:exactMatch HGNC_symbol:COX4I2 Unspecified COX4I2 +OMIM:607976 skos:exactMatch UMLS:C1424108 Unspecified COX4I2 +OMIM:605319 skos:exactMatch HGNC_symbol:PFKFB3 Unspecified PFKFB3 +OMIM:605319 skos:exactMatch UMLS:C1418489 Unspecified PFKFB3 +OMIM:605319 skos:exactMatch HGNC:8874 Unspecified PFKFB3 +OMIM:617301 skos:exactMatch UMLS:C4310943 Unspecified glycine encephalopathy with normal serum glycine +OMIM:617300 skos:exactMatch UMLS:C4310629 Unspecified lymphatic malformation 7 +OMIM:617303 skos:exactMatch ORPHA:505248 Unspecified mucopolysaccharidosis-plus syndrome +OMIM:617303 skos:exactMatch UMLS:C4310627 Unspecified mucopolysaccharidosis-plus syndrome +OMIM:617302 skos:exactMatch UMLS:C4310628 Unspecified optic atrophy 11 +OMIM:250230 skos:exactMatch UMLS:C1855217 Unspecified metaphyseal chondrodysplasia, kaitila iia +OMIM:607982 skos:exactMatch HGNC:14372 Unspecified SCYL1 +OMIM:607982 skos:exactMatch UMLS:C1422597 Unspecified SCYL1 +OMIM:607982 skos:exactMatch HGNC_symbol:SCYL1 Unspecified SCYL1 +OMIM:607981 skos:exactMatch HGNC:17623 Unspecified NUB1 +OMIM:607981 skos:exactMatch HGNC_symbol:NUB1 Unspecified NUB1 +OMIM:607981 skos:exactMatch UMLS:C1826485 Unspecified NUB1 +OMIM:605320 skos:exactMatch HGNC:8875 Unspecified PFKFB4 +OMIM:605320 skos:exactMatch HGNC_symbol:PFKFB4 Unspecified PFKFB4 +OMIM:605320 skos:exactMatch UMLS:C1418490 Unspecified PFKFB4 +OMIM:607980 skos:exactMatch HGNC:21648 Unspecified TOMM7 +OMIM:607980 skos:exactMatch UMLS:C1427672 Unspecified TOMM7 +OMIM:607980 skos:exactMatch HGNC_symbol:TOMM7 Unspecified TOMM7 +OMIM:605323 skos:exactMatch HGNC_symbol:CTDSP1 Unspecified CTDSP1 +OMIM:605323 skos:exactMatch HGNC:21614 Unspecified CTDSP1 +OMIM:605323 skos:exactMatch UMLS:C1427646 Unspecified CTDSP1 +OMIM:607986 skos:exactMatch HGNC_symbol:S100A14 Unspecified S100A14 +OMIM:607986 skos:exactMatch HGNC:18901 Unspecified S100A14 +OMIM:607986 skos:exactMatch UMLS:C1425869 Unspecified S100A14 +OMIM:605324 skos:exactMatch HGNC:622 Unspecified APPBP2 +OMIM:605324 skos:exactMatch HGNC_symbol:APPBP2 Unspecified APPBP2 +OMIM:605324 skos:exactMatch UMLS:C1332104 Unspecified APPBP2 +OMIM:607985 skos:exactMatch HGNC:17378 Unspecified NAGPA +OMIM:607985 skos:exactMatch HGNC_symbol:NAGPA Unspecified NAGPA +OMIM:607985 skos:exactMatch UMLS:C1424946 Unspecified NAGPA +OMIM:605321 skos:exactMatch UMLS:C1854405 Unspecified frontoocular syndrome +OMIM:607984 skos:exactMatch HGNC_symbol:SPRY4 Unspecified SPRY4 +OMIM:607984 skos:exactMatch HGNC:15533 Unspecified SPRY4 +OMIM:607984 skos:exactMatch UMLS:C1423560 Unspecified SPRY4 +OMIM:605322 skos:exactMatch HGNC_symbol:WFDC1 Unspecified WFDC1 +OMIM:605322 skos:exactMatch HGNC:15466 Unspecified WFDC1 +OMIM:605322 skos:exactMatch UMLS:C1336986 Unspecified WFDC1 +OMIM:607983 skos:exactMatch UMLS:C1822658 Unspecified GORAB +OMIM:607983 skos:exactMatch HGNC:25676 Unspecified GORAB +OMIM:607983 skos:exactMatch HGNC_symbol:GORAB Unspecified GORAB +OMIM:607983 skos:exactMatch UMLS:C0432255 Unspecified GORAB +OMIM:617370 skos:exactMatch UMLS:C4479254 Unspecified peroxisome biogenesis disorder 10b +OMIM:617372 skos:exactMatch HGNC:16743 Unspecified SHC4 +OMIM:617372 skos:exactMatch HGNC_symbol:SHC4 Unspecified SHC4 +OMIM:617372 skos:exactMatch UMLS:C1822715 Unspecified SHC4 +OMIM:617371 skos:exactMatch HGNC_symbol:ZNF462 Unspecified ZNF462 +OMIM:617371 skos:exactMatch HGNC:21684 Unspecified ZNF462 +OMIM:617371 skos:exactMatch UMLS:C1427693 Unspecified ZNF462 +OMIM:617374 skos:exactMatch UMLS:C2829584 Unspecified INCA1 +OMIM:617374 skos:exactMatch HGNC_symbol:INCA1 Unspecified INCA1 +OMIM:617374 skos:exactMatch HGNC:32224 Unspecified INCA1 +OMIM:617373 skos:exactMatch UMLS:C1538318 Unspecified PRRC2C +OMIM:617373 skos:exactMatch HGNC:24903 Unspecified PRRC2C +OMIM:617373 skos:exactMatch HGNC_symbol:PRRC2C Unspecified PRRC2C +OMIM:617376 skos:exactMatch HGNC_symbol:PROCA1 Unspecified PROCA1 +OMIM:617376 skos:exactMatch UMLS:C2828553 Unspecified PROCA1 +OMIM:617376 skos:exactMatch HGNC:28600 Unspecified PROCA1 +OMIM:617375 skos:exactMatch HGNC_symbol:KLHDC9 Unspecified KLHDC9 +OMIM:617375 skos:exactMatch HGNC:28489 Unspecified KLHDC9 +OMIM:617375 skos:exactMatch UMLS:C2239565 Unspecified KLHDC9 +OMIM:617378 skos:exactMatch UMLS:C2681932 Unspecified MYL11 +OMIM:617378 skos:exactMatch UMLS:C5436834 Unspecified MYL11 +OMIM:617378 skos:exactMatch HGNC_symbol:MYL11 Unspecified MYL11 +OMIM:617378 skos:exactMatch HGNC:29824 Unspecified MYL11 +OMIM:617377 skos:exactMatch HGNC_symbol:SYDE1 Unspecified SYDE1 +OMIM:617377 skos:exactMatch HGNC:25824 Unspecified SYDE1 +OMIM:617377 skos:exactMatch UMLS:C1823159 Unspecified SYDE1 +OMIM:617379 skos:exactMatch UMLS:C1428566 Unspecified MYO19 +OMIM:617379 skos:exactMatch HGNC_symbol:MYO19 Unspecified MYO19 +OMIM:617379 skos:exactMatch HGNC:26234 Unspecified MYO19 +OMIM:605392 skos:exactMatch UMLS:C3148910 Unspecified FGFR1OP +OMIM:605392 skos:exactMatch HGNC:17012 Unspecified FGFR1OP +OMIM:605392 skos:exactMatch HGNC_symbol:CEP43 Unspecified FGFR1OP +OMIM:605392 skos:exactMatch UMLS:C1333541 Unspecified FGFR1OP +OMIM:605393 skos:exactMatch HGNC:18039 Unspecified KDM5B +OMIM:605393 skos:exactMatch HGNC_symbol:KDM5B Unspecified KDM5B +OMIM:605393 skos:exactMatch UMLS:C1425259 Unspecified KDM5B +OMIM:605390 skos:exactMatch HGNC:14061 Unspecified LPXN +OMIM:605390 skos:exactMatch HGNC_symbol:LPXN Unspecified LPXN +OMIM:605390 skos:exactMatch UMLS:C1422384 Unspecified LPXN +OMIM:605391 skos:exactMatch UMLS:C1417169 Unspecified MINPP1 +OMIM:605391 skos:exactMatch HGNC_symbol:MINPP1 Unspecified MINPP1 +OMIM:605391 skos:exactMatch HGNC:7102 Unspecified MINPP1 +OMIM:225250 skos:exactMatch UMLS:C2673630 Unspecified hypothyroidism, congenital, nongoitrous, 5 +OMIM:605397 skos:exactMatch HGNC_symbol:CD226 Unspecified CD226 +OMIM:605397 skos:exactMatch HGNC:16961 Unspecified CD226 +OMIM:605397 skos:exactMatch UMLS:C1424664 Unspecified CD226 +OMIM:605394 skos:exactMatch UMLS:C1422394 Unspecified BACH2 +OMIM:605394 skos:exactMatch HGNC:14078 Unspecified BACH2 +OMIM:605394 skos:exactMatch HGNC_symbol:BACH2 Unspecified BACH2 +OMIM:605395 skos:exactMatch UMLS:C1539983 Unspecified TMED1 +OMIM:605395 skos:exactMatch HGNC:17291 Unspecified TMED1 +OMIM:605395 skos:exactMatch HGNC_symbol:TMED1 Unspecified TMED1 +OMIM:605398 skos:exactMatch HGNC_symbol:CXCL16 Unspecified CXCL16 +OMIM:605398 skos:exactMatch HGNC:16642 Unspecified CXCL16 +OMIM:605398 skos:exactMatch UMLS:C1424460 Unspecified CXCL16 +OMIM:605399 skos:exactMatch HGNC_symbol:NID2 Unspecified NID2 +OMIM:605399 skos:exactMatch UMLS:C1421970 Unspecified NID2 +OMIM:605399 skos:exactMatch HGNC:13389 Unspecified NID2 +OMIM:617361 skos:exactMatch HGNC:28451 Unspecified TMEM108 +OMIM:617361 skos:exactMatch UMLS:C1823370 Unspecified TMEM108 +OMIM:617361 skos:exactMatch HGNC_symbol:TMEM108 Unspecified TMEM108 +OMIM:617360 skos:exactMatch UMLS:C4479246 Unspecified congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +OMIM:617363 skos:exactMatch HGNC_symbol:TMEM132A Unspecified TMEM132A +OMIM:617363 skos:exactMatch UMLS:C1823391 Unspecified TMEM132A +OMIM:617363 skos:exactMatch HGNC:31092 Unspecified TMEM132A +OMIM:617362 skos:exactMatch UMLS:C1424824 Unspecified DHX37 +OMIM:617362 skos:exactMatch UMLS:C0266427 Unspecified DHX37 +OMIM:617362 skos:exactMatch HGNC_symbol:DHX37 Unspecified DHX37 +OMIM:617362 skos:exactMatch UMLS:C5231548 Unspecified DHX37 +OMIM:617362 skos:exactMatch UMLS:C5231547 Unspecified DHX37 +OMIM:617362 skos:exactMatch UMLS:C5231546 Unspecified DHX37 +OMIM:617362 skos:exactMatch HGNC:17210 Unspecified DHX37 +OMIM:617365 skos:exactMatch UMLS:C1423806 Unspecified AAR2 +OMIM:617365 skos:exactMatch HGNC_symbol:AAR2 Unspecified AAR2 +OMIM:617365 skos:exactMatch HGNC:15886 Unspecified AAR2 +OMIM:617364 skos:exactMatch UMLS:C4479250 Unspecified congenital heart defects and ectodermal dysplasia +OMIM:617367 skos:exactMatch HGNC:25428 Unspecified KIAA1217 +OMIM:617367 skos:exactMatch HGNC_symbol:KIAA1217 Unspecified KIAA1217 +OMIM:617367 skos:exactMatch UMLS:C1428486 Unspecified KIAA1217 +OMIM:311770 skos:exactMatch UMLS:C1418558 Unspecified PIGA +OMIM:311770 skos:exactMatch UMLS:C1418559 Unspecified PIGA +OMIM:311770 skos:exactMatch HGNC_symbol:PIGA Unspecified PIGA +OMIM:311770 skos:exactMatch UMLS:C0024790 Unspecified PIGA +OMIM:311770 skos:exactMatch UMLS:C3275508 Unspecified PIGA +OMIM:311770 skos:exactMatch HGNC:8957 Unspecified PIGA +OMIM:617366 skos:exactMatch HGNC:24855 Unspecified CCDC91 +OMIM:617366 skos:exactMatch UMLS:C1824618 Unspecified CCDC91 +OMIM:617366 skos:exactMatch HGNC_symbol:CCDC91 Unspecified CCDC91 +OMIM:617369 skos:exactMatch UMLS:C1424719 Unspecified HABP4 +OMIM:617369 skos:exactMatch HGNC:17062 Unspecified HABP4 +OMIM:617369 skos:exactMatch HGNC_symbol:HABP4 Unspecified HABP4 +OMIM:617368 skos:exactMatch UMLS:C4479253 Unspecified SH3BP1 +OMIM:617368 skos:exactMatch UMLS:C1420021 Unspecified SH3BP1 +OMIM:617368 skos:exactMatch HGNC:10824 Unspecified SH3BP1 +OMIM:617368 skos:exactMatch HGNC_symbol:SH3BP1 Unspecified SH3BP1 +OMIM:617359 skos:exactMatch HGNC:25450 Unspecified STOX2 +OMIM:617359 skos:exactMatch HGNC_symbol:STOX2 Unspecified STOX2 +OMIM:617359 skos:exactMatch UMLS:C1539886 Unspecified STOX2 +OMIM:605381 skos:exactMatch HGNC:18140 Unspecified RHCG +OMIM:605381 skos:exactMatch UMLS:C1425338 Unspecified RHCG +OMIM:605381 skos:exactMatch HGNC_symbol:RHCG Unspecified RHCG +OMIM:249230 skos:exactMatch UMLS:C1855310 Unspecified megaepiphyseal dwarfism +OMIM:605380 skos:exactMatch HGNC_symbol:FGF23 Unspecified FGF23 +OMIM:605380 skos:exactMatch HGNC:3680 Unspecified FGF23 +OMIM:605380 skos:exactMatch UMLS:C1414605 Unspecified FGF23 +OMIM:605385 skos:exactMatch HGNC:13721 Unspecified RCE1 +OMIM:605385 skos:exactMatch UMLS:C1422161 Unspecified RCE1 +OMIM:605385 skos:exactMatch HGNC_symbol:RCE1 Unspecified RCE1 +OMIM:605386 skos:exactMatch HGNC_symbol:MIRLET7A1 Unspecified MIRLET7A1 +OMIM:605386 skos:exactMatch UMLS:C1537910 Unspecified MIRLET7A1 +OMIM:605386 skos:exactMatch HGNC:31476 Unspecified MIRLET7A1 +OMIM:276821 skos:exactMatch UMLS:C1848650 Unspecified ulnar hypoplasia with mental retardation +OMIM:605383 skos:exactMatch HGNC_symbol:IL21R Unspecified IL21R +OMIM:605383 skos:exactMatch UMLS:C1854312 Unspecified IL21R +OMIM:605383 skos:exactMatch UMLS:C1416407 Unspecified IL21R +OMIM:605383 skos:exactMatch HGNC:6006 Unspecified IL21R +OMIM:605384 skos:exactMatch HGNC_symbol:IL21 Unspecified IL21 +OMIM:605384 skos:exactMatch UMLS:C1416406 Unspecified IL21 +OMIM:605384 skos:exactMatch HGNC:6005 Unspecified IL21 +OMIM:276820 skos:exactMatch UMLS:C1848651 Unspecified ulna and fibula, absence of, with severe limb deficiency +OMIM:250215 skos:exactMatch UMLS:C1855243 Unspecified metaphyseal acroscyphodysplasia +OMIM:605389 skos:exactMatch UMLS:C4551976 Unspecified hypotrichosis 1 +OMIM:605389 skos:exactMatch ORPHA:55654 Unspecified hypotrichosis 1 +OMIM:605389 skos:exactMatch UMLS:C1854310 Unspecified hypotrichosis 1 +OMIM:276822 skos:exactMatch UMLS:C1848649 Unspecified ulnar agenesis and endocardial fibroelastosis +OMIM:605387 skos:exactMatch ORPHA:91492 Unspecified cataract 31, multiple types +OMIM:605387 skos:exactMatch UMLS:C1854311 Unspecified cataract 31, multiple types +OMIM:605388 skos:exactMatch UMLS:C0394005 Unspecified cerebral palsy, ataxic, autosomal recessive +OMIM:605369 skos:exactMatch HGNC_symbol:TMPRSS11D Unspecified TMPRSS11D +OMIM:605369 skos:exactMatch HGNC:24059 Unspecified TMPRSS11D +OMIM:605369 skos:exactMatch UMLS:C1540026 Unspecified TMPRSS11D +OMIM:617350 skos:exactMatch UMLS:C4479236 Unspecified developmental and epileptic encephalopathy 52 +OMIM:617350 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 52 +OMIM:617352 skos:exactMatch UMLS:C4275029 Unspecified mulchandani-bhoj-conlin syndrome +OMIM:617351 skos:exactMatch HGNC:26384 Unspecified IGSF10 +OMIM:617351 skos:exactMatch UMLS:C1428579 Unspecified IGSF10 +OMIM:617351 skos:exactMatch HGNC_symbol:IGSF10 Unspecified IGSF10 +OMIM:617354 skos:exactMatch HGNC:15962 Unspecified CBX8 +OMIM:617354 skos:exactMatch UMLS:C1423866 Unspecified CBX8 +OMIM:617354 skos:exactMatch HGNC_symbol:CBX8 Unspecified CBX8 +OMIM:617353 skos:exactMatch UMLS:C2240073 Unspecified TCTEX1D2 +OMIM:617353 skos:exactMatch HGNC_symbol:DYNLT2B Unspecified TCTEX1D2 +OMIM:617353 skos:exactMatch HGNC:28482 Unspecified TCTEX1D2 +OMIM:617356 skos:exactMatch HGNC_symbol:SSPOP Unspecified SSPO +OMIM:617356 skos:exactMatch UMLS:C1823128 Unspecified SSPO +OMIM:617356 skos:exactMatch HGNC:21998 Unspecified SSPO +OMIM:617355 skos:exactMatch HGNC_symbol:EID2B Unspecified EID2B +OMIM:617355 skos:exactMatch HGNC:26796 Unspecified EID2B +OMIM:617355 skos:exactMatch UMLS:C1825041 Unspecified EID2B +OMIM:617358 skos:exactMatch HGNC:15756 Unspecified SDCBP2 +OMIM:617358 skos:exactMatch UMLS:C1423706 Unspecified SDCBP2 +OMIM:617358 skos:exactMatch HGNC_symbol:SDCBP2 Unspecified SDCBP2 +OMIM:617357 skos:exactMatch HGNC:13015 Unspecified ZNF222 +OMIM:617357 skos:exactMatch HGNC_symbol:ZNF222 Unspecified ZNF222 +OMIM:617357 skos:exactMatch UMLS:C1421711 Unspecified ZNF222 +OMIM:617349 skos:exactMatch UMLS:C4479235 Unspecified aortic aneurysm, familial thoracic 11, susceptibility to +OMIM:617348 skos:exactMatch HGNC_symbol:CPXM2 Unspecified CPXM2 +OMIM:617348 skos:exactMatch UMLS:C1539135 Unspecified CPXM2 +OMIM:617348 skos:exactMatch HGNC:26977 Unspecified CPXM2 +OMIM:605370 skos:exactMatch UMLS:C1538925 Unspecified ARHGAP26 +OMIM:605370 skos:exactMatch UMLS:C1854355 Unspecified ARHGAP26 +OMIM:605370 skos:exactMatch HGNC:17073 Unspecified ARHGAP26 +OMIM:605370 skos:exactMatch HGNC_symbol:ARHGAP26 Unspecified ARHGAP26 +OMIM:605371 skos:exactMatch HGNC_symbol:ARFGEF2 Unspecified ARFGEF2 +OMIM:605371 skos:exactMatch UMLS:C1423775 Unspecified ARFGEF2 +OMIM:605371 skos:exactMatch HGNC:15853 Unspecified ARFGEF2 +OMIM:605374 skos:exactMatch UMLS:C1424629 Unspecified MYCNOS +OMIM:605374 skos:exactMatch HGNC:16911 Unspecified MYCNOS +OMIM:605374 skos:exactMatch HGNC_symbol:MYCNOS Unspecified MYCNOS +OMIM:605375 skos:exactMatch UMLS:C1854335 Unspecified epilepsy, nocturnal frontal lobe, 3 +OMIM:605372 skos:exactMatch UMLS:C1333920 Unspecified HNRNPA3 +OMIM:605372 skos:exactMatch HGNC_symbol:HNRNPA3 Unspecified HNRNPA3 +OMIM:605372 skos:exactMatch HGNC:24941 Unspecified HNRNPA3 +OMIM:605373 skos:exactMatch UMLS:C1854336 Unspecified paragangliomas 3 +OMIM:605378 skos:exactMatch HGNC:13666 Unspecified AAAS +OMIM:605378 skos:exactMatch UMLS:C1422135 Unspecified AAAS +OMIM:605378 skos:exactMatch HGNC_symbol:AAAS Unspecified AAAS +OMIM:605379 skos:exactMatch UMLS:C1414964 Unspecified GAN +OMIM:605379 skos:exactMatch UMLS:C1850386 Unspecified GAN +OMIM:605379 skos:exactMatch HGNC:4137 Unspecified GAN +OMIM:605379 skos:exactMatch HGNC_symbol:GAN Unspecified GAN +OMIM:605376 skos:exactMatch UMLS:C1415817 Unspecified heterotaxy, visceral, 2, autosomal +OMIM:605377 skos:exactMatch UMLS:C1414085 Unspecified DMPK +OMIM:605377 skos:exactMatch HGNC:2933 Unspecified DMPK +OMIM:605377 skos:exactMatch HGNC_symbol:DMPK Unspecified DMPK +OMIM:308100 skos:exactMatch UMLS:C2717836 Unspecified ichthyosis, X-linked +OMIM:308100 skos:exactMatch UMLS:C2677713 Unspecified ichthyosis, X-linked +OMIM:308100 skos:exactMatch UMLS:C0079588 Unspecified ichthyosis, X-linked +OMIM:605358 skos:exactMatch HGNC_symbol:GTF2A1L Unspecified GTF2A1L +OMIM:605358 skos:exactMatch UMLS:C1332077 Unspecified GTF2A1L +OMIM:605358 skos:exactMatch HGNC:30727 Unspecified GTF2A1L +OMIM:605359 skos:exactMatch UMLS:C1425246 Unspecified PRR4 +OMIM:605359 skos:exactMatch HGNC:18020 Unspecified PRR4 +OMIM:605359 skos:exactMatch HGNC_symbol:PRR4 Unspecified PRR4 +OMIM:617341 skos:exactMatch UMLS:C4479220 Unspecified cerebroretinal microangiopathy with calcifications and cysts 2 +OMIM:617340 skos:exactMatch HGNC_symbol:UPP2 Unspecified UPP2 +OMIM:617340 skos:exactMatch HGNC:23061 Unspecified UPP2 +OMIM:617340 skos:exactMatch UMLS:C1427883 Unspecified UPP2 +OMIM:617343 skos:exactMatch UMLS:C4479229 Unspecified hyperparathyroidism 4 +OMIM:617342 skos:exactMatch UMLS:C2681204 Unspecified PTRHD1 +OMIM:617342 skos:exactMatch HGNC_symbol:PTRHD1 Unspecified PTRHD1 +OMIM:617342 skos:exactMatch HGNC:33782 Unspecified PTRHD1 +OMIM:617345 skos:exactMatch HGNC_symbol:AGBL2 Unspecified AGBL2 +OMIM:617345 skos:exactMatch HGNC:26296 Unspecified AGBL2 +OMIM:617345 skos:exactMatch UMLS:C1826608 Unspecified AGBL2 +OMIM:617344 skos:exactMatch HGNC_symbol:PRAG1 Unspecified PRAG1 +OMIM:617344 skos:exactMatch HGNC:25438 Unspecified PRAG1 +OMIM:617344 skos:exactMatch UMLS:C4320711 Unspecified PRAG1 +OMIM:617347 skos:exactMatch UMLS:C0020479 Unspecified hyperlipoproteinemia, iia 3 +OMIM:617347 skos:exactMatch UMLS:C1862591 Unspecified hyperlipoproteinemia, iia 3 +OMIM:617347 skos:exactMatch UMLS:C2676098 Unspecified hyperlipoproteinemia, iia 3 +OMIM:617346 skos:exactMatch HGNC_symbol:AGBL3 Unspecified AGBL3 +OMIM:617346 skos:exactMatch HGNC:27981 Unspecified AGBL3 +OMIM:617346 skos:exactMatch UMLS:C1826609 Unspecified AGBL3 +OMIM:617338 skos:exactMatch HGNC:28154 Unspecified NUDT16L1 +OMIM:617338 skos:exactMatch HGNC_symbol:NUDT16L1 Unspecified NUDT16L1 +OMIM:617338 skos:exactMatch UMLS:C1538500 Unspecified NUDT16L1 +OMIM:617337 skos:exactMatch UMLS:C4310616 Unspecified ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail iia +OMIM:617339 skos:exactMatch UMLS:C4479208 Unspecified developmental and epileptic encephalopathy 51 +OMIM:605360 skos:exactMatch HGNC:24926 Unspecified CCDC85B +OMIM:605360 skos:exactMatch UMLS:C1824611 Unspecified CCDC85B +OMIM:605360 skos:exactMatch HGNC_symbol:CCDC85B Unspecified CCDC85B +OMIM:605363 skos:exactMatch UMLS:C1414925 Unspecified GAD1 +OMIM:605363 skos:exactMatch HGNC_symbol:GAD1 Unspecified GAD1 +OMIM:605363 skos:exactMatch HGNC:4092 Unspecified GAD1 +OMIM:605363 skos:exactMatch UMLS:C5436853 Unspecified GAD1 +OMIM:605363 skos:exactMatch UMLS:C2751938 Unspecified GAD1 +OMIM:605364 skos:exactMatch UMLS:C1854366 Unspecified psoriasis 6, susceptibility to +OMIM:605361 skos:exactMatch UMLS:C1854369 Unspecified spinocerebellar ataxia 14 +OMIM:605362 skos:exactMatch UMLS:C1854368 Unspecified cardiomyopathy, dilated, 1j +OMIM:605367 skos:exactMatch HGNC:14198 Unspecified ELAC2 +OMIM:605367 skos:exactMatch UMLS:C3539120 Unspecified ELAC2 +OMIM:605367 skos:exactMatch UMLS:C1422480 Unspecified ELAC2 +OMIM:605367 skos:exactMatch HGNC_symbol:ELAC2 Unspecified ELAC2 +OMIM:605367 skos:exactMatch UMLS:C3809526 Unspecified ELAC2 +OMIM:276800 skos:exactMatch UMLS:C0268484 Unspecified tyrosinosis +OMIM:605368 skos:exactMatch UMLS:C1332435 Unspecified BNIP3L +OMIM:605368 skos:exactMatch HGNC:1085 Unspecified BNIP3L +OMIM:605368 skos:exactMatch HGNC_symbol:BNIP3L Unspecified BNIP3L +OMIM:605366 skos:exactMatch UMLS:C1424808 Unspecified OLFM1 +OMIM:605366 skos:exactMatch HGNC:17187 Unspecified OLFM1 +OMIM:605366 skos:exactMatch HGNC_symbol:OLFM1 Unspecified OLFM1 +OMIM:225200 skos:exactMatch UMLS:C1644196 Unspecified ectopia lentis et pupillae +OMIM:239840 skos:exactMatch UMLS:C1855902 Unspecified hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy +OMIM:130400 skos:exactMatch UMLS:C1851755 Unspecified electroencephalographic peculiarity: occipital slow beta waves +OMIM:227850 skos:exactMatch UMLS:C0151638 Unspecified fanconi-like syndrome +OMIM:264800 skos:exactMatch UMLS:C0033847 Unspecified pseudoxanthoma elasticum +OMIM:264800 skos:exactMatch UMLS:C3279393 Unspecified pseudoxanthoma elasticum +OMIM:264800 skos:exactMatch UMLS:C3279392 Unspecified pseudoxanthoma elasticum +OMIM:201250 skos:exactMatch UMLS:C2930970 Unspecified acromesomelic dysplasia 2c +OMIM:617390 skos:exactMatch UMLS:C1428080 Unspecified KIAA1958 +OMIM:617390 skos:exactMatch HGNC_symbol:KIAA1958 Unspecified KIAA1958 +OMIM:617390 skos:exactMatch HGNC:23427 Unspecified KIAA1958 +OMIM:617392 skos:exactMatch UMLS:C4479322 Unspecified ectodermal dysplasia 13, hair/tooth iia +OMIM:617391 skos:exactMatch UMLS:C4479319 Unspecified developmental and epileptic encephalopathy 54 +OMIM:617391 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 54 +OMIM:617394 skos:exactMatch UMLS:C4479344 Unspecified sclerosing cholangitis, neonatal +OMIM:617393 skos:exactMatch UMLS:C4479333 Unspecified neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination +OMIM:617396 skos:exactMatch UMLS:C4479357 Unspecified anauxetic dysplasia 2 +OMIM:617395 skos:exactMatch UMLS:C4479353 Unspecified congenital disorder of glycosylation, iia iiq +OMIM:617398 skos:exactMatch HGNC:23397 Unspecified FKBP15 +OMIM:617398 skos:exactMatch UMLS:C1825302 Unspecified FKBP15 +OMIM:617398 skos:exactMatch HGNC_symbol:FKBP15 Unspecified FKBP15 +OMIM:130410 skos:exactMatch HGNC:3482 Unspecified ETFB +OMIM:130410 skos:exactMatch UMLS:C1414472 Unspecified ETFB +OMIM:130410 skos:exactMatch HGNC_symbol:ETFB Unspecified ETFB +OMIM:617397 skos:exactMatch ORPHA:481665 Unspecified pseudo-torch syndrome 2 +OMIM:617397 skos:exactMatch UMLS:C4479376 Unspecified pseudo-torch syndrome 2 +OMIM:617399 skos:exactMatch HGNC_symbol:PXMP2 Unspecified PXMP2 +OMIM:617399 skos:exactMatch HGNC:9716 Unspecified PXMP2 +OMIM:617399 skos:exactMatch UMLS:C1419148 Unspecified PXMP2 +OMIM:252800 skos:exactMatch UMLS:C1442485 Unspecified IDUA +OMIM:252800 skos:exactMatch UMLS:C0086431 Unspecified IDUA +OMIM:252800 skos:exactMatch HGNC_symbol:IDUA Unspecified IDUA +OMIM:252800 skos:exactMatch UMLS:C0086795 Unspecified IDUA +OMIM:252800 skos:exactMatch UMLS:C4016443 Unspecified IDUA +OMIM:252800 skos:exactMatch HGNC:5391 Unspecified IDUA +OMIM:252800 skos:exactMatch UMLS:C0026708 Unspecified IDUA +OMIM:142408 skos:exactMatch UMLS:C1417377 Unspecified MST1 +OMIM:142408 skos:exactMatch HGNC:7380 Unspecified MST1 +OMIM:142408 skos:exactMatch HGNC_symbol:MST1 Unspecified MST1 +OMIM:142409 skos:exactMatch HGNC:4893 Unspecified HGF +OMIM:142409 skos:exactMatch HGNC_symbol:HGF Unspecified HGF +OMIM:142409 skos:exactMatch UMLS:C1442521 Unspecified HGF +OMIM:617381 skos:exactMatch HGNC:26442 Unspecified NUDT16 +OMIM:617381 skos:exactMatch HGNC_symbol:NUDT16 Unspecified NUDT16 +OMIM:617381 skos:exactMatch UMLS:C1538499 Unspecified NUDT16 +OMIM:617380 skos:exactMatch HGNC_symbol:TIMM29 Unspecified TIMM29 +OMIM:617380 skos:exactMatch HGNC:25152 Unspecified TIMM29 +OMIM:617380 skos:exactMatch UMLS:C4321054 Unspecified TIMM29 +OMIM:617383 skos:exactMatch UMLS:C4479260 Unspecified avascular necrosis of femoral head, primary, 2 +OMIM:617382 skos:exactMatch HGNC_symbol:STARD10 Unspecified STARD10 +OMIM:617382 skos:exactMatch HGNC:10666 Unspecified STARD10 +OMIM:617382 skos:exactMatch UMLS:C1419899 Unspecified STARD10 +OMIM:617385 skos:exactMatch HGNC:18125 Unspecified ATP6V1E2 +OMIM:617385 skos:exactMatch HGNC_symbol:ATP6V1E2 Unspecified ATP6V1E2 +OMIM:617385 skos:exactMatch UMLS:C4521003 Unspecified ATP6V1E2 +OMIM:617384 skos:exactMatch UMLS:C4479270 Unspecified hyperphenylalaninemia, mild, non-bh4-deficient +OMIM:617387 skos:exactMatch HGNC:24713 Unspecified QRICH1 +OMIM:617387 skos:exactMatch HGNC_symbol:QRICH1 Unspecified QRICH1 +OMIM:617387 skos:exactMatch UMLS:C1826748 Unspecified QRICH1 +OMIM:617386 skos:exactMatch HGNC:32673 Unspecified nuclear receptor subfamily 1, group h, member 5, pseudogene +OMIM:617386 skos:exactMatch HGNC_symbol:NR1H5P Unspecified nuclear receptor subfamily 1, group h, member 5, pseudogene +OMIM:617386 skos:exactMatch UMLS:C2239786 Unspecified nuclear receptor subfamily 1, group h, member 5, pseudogene +OMIM:617389 skos:exactMatch UMLS:C4479313 Unspecified developmental and epileptic encephalopathy 53 +OMIM:617389 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 53 +OMIM:617388 skos:exactMatch UMLS:C4479278 Unspecified autoinflammation with arthritis and dyskeratosis +OMIM:142400 skos:exactMatch UMLS:C3489393 Unspecified hernia, hiatus +OMIM:239850 skos:exactMatch UMLS:C0795905 Unspecified cantu syndrome +OMIM:240800 skos:exactMatch UMLS:C0271714 Unspecified hypoglycemia, leucine-induced +OMIM:142410 skos:exactMatch UMLS:C1838100 Unspecified HNF1A +OMIM:142410 skos:exactMatch HGNC:11621 Unspecified HNF1A +OMIM:142410 skos:exactMatch UMLS:C2675866 Unspecified HNF1A +OMIM:142410 skos:exactMatch UMLS:C1420631 Unspecified HNF1A +OMIM:142410 skos:exactMatch UMLS:C1852091 Unspecified HNF1A +OMIM:142410 skos:exactMatch UMLS:C1840623 Unspecified HNF1A +OMIM:142410 skos:exactMatch UMLS:C3837967 Unspecified HNF1A +OMIM:142410 skos:exactMatch UMLS:C3276902 Unspecified HNF1A +OMIM:142410 skos:exactMatch UMLS:C1266042 Unspecified HNF1A +OMIM:142410 skos:exactMatch UMLS:C0279702 Unspecified HNF1A +OMIM:142410 skos:exactMatch HGNC_symbol:HNF1A Unspecified HNF1A +OMIM:239800 skos:exactMatch UMLS:C0220742 Unspecified hypertelorism, microtia, facial clefting syndrome +OMIM:201200 skos:exactMatch UMLS:C0406584 Unspecified acrogeria, gottron iia +OMIM:227810 skos:exactMatch UMLS:C3495427 Unspecified fanconi-bickel syndrome +OMIM:154400 skos:exactMatch UMLS:C0265245 Unspecified acrofacial dysostosis 1, nager iia +OMIM:166400 skos:exactMatch UMLS:C1833733 Unspecified osteomas of mandible +OMIM:215850 skos:exactMatch UMLS:C1859082 Unspecified cleft-limb-heart malformation syndrome +OMIM:142440 skos:exactMatch UMLS:C1415700 Unspecified HPN +OMIM:142440 skos:exactMatch HGNC_symbol:HPN Unspecified HPN +OMIM:142440 skos:exactMatch HGNC:5155 Unspecified HPN +OMIM:213200 skos:exactMatch UMLS:C1859298 Unspecified spinocerebellar ataxia, autosomal recessive 2 +OMIM:142445 skos:exactMatch UMLS:C1367656 Unspecified NRG1 +OMIM:142445 skos:exactMatch HGNC_symbol:NRG1 Unspecified NRG1 +OMIM:142445 skos:exactMatch HGNC:7997 Unspecified NRG1 +OMIM:166300 skos:exactMatch ORPHA:2774 Unspecified multicentric carpotarsal osteolysis syndrome +OMIM:166300 skos:exactMatch UMLS:C2674705 Unspecified multicentric carpotarsal osteolysis syndrome +OMIM:142330 skos:exactMatch UMLS:C1840646 Unspecified hepatic adenomas, familial +OMIM:142335 skos:exactMatch UMLS:C1969758 Unspecified fetal hemoglobin quantitative trait locus 5 +OMIM:142340 skos:exactMatch UMLS:C0235833 Unspecified diaphragmatic hernia, congenital +OMIM:142340 skos:exactMatch UMLS:C1840643 Unspecified diaphragmatic hernia, congenital +OMIM:142340 skos:exactMatch UMLS:C1840644 Unspecified diaphragmatic hernia, congenital +OMIM:215800 skos:exactMatch UMLS:C1859083 Unspecified cleft larynx, posterior +OMIM:215800 skos:exactMatch UMLS:C0858233 Unspecified cleft larynx, posterior +OMIM:193900 skos:exactMatch UMLS:C4011926 Unspecified white sponge nevus 1 +OMIM:142350 skos:exactMatch UMLS:C0860251 Unspecified hernia, double inguinal +OMIM:178300 skos:exactMatch UMLS:C1867438 Unspecified ptosis, hereditary congenital 1 +OMIM:142360 skos:exactMatch HGNC:4838 Unspecified HCF2 +OMIM:142360 skos:exactMatch HGNC_symbol:SERPIND1 Unspecified HCF2 +OMIM:142360 skos:exactMatch UMLS:C1415492 Unspecified HCF2 +OMIM:191305 skos:exactMatch UMLS:C3150618 Unspecified BLK +OMIM:191305 skos:exactMatch HGNC_symbol:BLK Unspecified BLK +OMIM:191305 skos:exactMatch HGNC:1057 Unspecified BLK +OMIM:191305 skos:exactMatch UMLS:C1332419 Unspecified BLK +OMIM:191306 skos:exactMatch HGNC_symbol:KDR Unspecified KDR +OMIM:191306 skos:exactMatch UMLS:C1334306 Unspecified KDR +OMIM:191306 skos:exactMatch HGNC:6307 Unspecified KDR +OMIM:142370 skos:exactMatch HGNC:4840 Unspecified HCK +OMIM:142370 skos:exactMatch UMLS:C0812317 Unspecified HCK +OMIM:142370 skos:exactMatch HGNC_symbol:HCK Unspecified HCK +OMIM:191318 skos:exactMatch UMLS:C1427952 Unspecified U2AF2 +OMIM:191318 skos:exactMatch HGNC:23156 Unspecified U2AF2 +OMIM:191318 skos:exactMatch HGNC_symbol:U2AF2 Unspecified U2AF2 +OMIM:191316 skos:exactMatch HGNC_symbol:NTRK3 Unspecified NTRK3 +OMIM:191316 skos:exactMatch UMLS:C3275265 Unspecified NTRK3 +OMIM:191316 skos:exactMatch HGNC:8033 Unspecified NTRK3 +OMIM:191316 skos:exactMatch UMLS:C1334910 Unspecified NTRK3 +OMIM:191317 skos:exactMatch HGNC:12453 Unspecified U2AF1 +OMIM:191317 skos:exactMatch HGNC_symbol:U2AF1 Unspecified U2AF1 +OMIM:191317 skos:exactMatch UMLS:C1421254 Unspecified U2AF1 +OMIM:191315 skos:exactMatch HGNC_symbol:NTRK1 Unspecified NTRK1 +OMIM:191315 skos:exactMatch HGNC:8031 Unspecified NTRK1 +OMIM:191315 skos:exactMatch UMLS:C0020074 Unspecified NTRK1 +OMIM:191315 skos:exactMatch UMLS:C0919487 Unspecified NTRK1 +OMIM:191315 skos:exactMatch UMLS:C1833921 Unspecified NTRK1 +OMIM:142385 skos:exactMatch HGNC:4977 Unspecified HLF +OMIM:142385 skos:exactMatch UMLS:C1415594 Unspecified HLF +OMIM:142385 skos:exactMatch UMLS:C1840636 Unspecified HLF +OMIM:142385 skos:exactMatch HGNC_symbol:HLF Unspecified HLF +OMIM:154365 skos:exactMatch HGNC_symbol:PSMC2 Unspecified PSMC2 +OMIM:154365 skos:exactMatch HGNC:9548 Unspecified PSMC2 +OMIM:154365 skos:exactMatch UMLS:C1419021 Unspecified PSMC2 +OMIM:191311 skos:exactMatch HGNC:2731 Unspecified DDR2 +OMIM:191311 skos:exactMatch UMLS:C1333207 Unspecified DDR2 +OMIM:191311 skos:exactMatch HGNC_symbol:DDR2 Unspecified DDR2 +OMIM:154360 skos:exactMatch HGNC_symbol:MGAM Unspecified MGAM +OMIM:154360 skos:exactMatch HGNC:7043 Unspecified MGAM +OMIM:154360 skos:exactMatch UMLS:C1417132 Unspecified MGAM +OMIM:142390 skos:exactMatch UMLS:C1840635 Unspecified HEP10 +OMIM:142395 skos:exactMatch UMLS:C1840634 Unspecified hepatitis B vaccine, response to +OMIM:154370 skos:exactMatch UMLS:C3887696 Unspecified mammastatin +OMIM:203800 skos:exactMatch UMLS:C0268425 Unspecified alstrom syndrome +OMIM:166350 skos:exactMatch UMLS:C0334041 Unspecified osseous heteroplasia, progressive +OMIM:274190 skos:exactMatch UMLS:C1848818 Unspecified thumb agenesis, short stature, and immunodeficiency +OMIM:129400 skos:exactMatch UMLS:C1785148 Unspecified rapp-hodgkin syndrome +OMIM:129400 skos:exactMatch ORPHA:3022 Unspecified rapp-hodgkin syndrome +OMIM:129400 skos:exactMatch ORPHA:141291 Unspecified rapp-hodgkin syndrome +OMIM:129400 skos:exactMatch ORPHA:199306 Unspecified rapp-hodgkin syndrome +OMIM:129400 skos:exactMatch ORPHA:199302 Unspecified rapp-hodgkin syndrome +OMIM:178330 skos:exactMatch UMLS:C1867437 Unspecified ptosis, strabismus, and ectopic pupils +OMIM:607924 skos:exactMatch HGNC_symbol:MALAT1 Unspecified MALAT1 +OMIM:607924 skos:exactMatch UMLS:C1537647 Unspecified MALAT1 +OMIM:607924 skos:exactMatch HGNC:29665 Unspecified MALAT1 +OMIM:607923 skos:exactMatch HGNC:14986 Unspecified SNAP91 +OMIM:607923 skos:exactMatch UMLS:C1423112 Unspecified SNAP91 +OMIM:607923 skos:exactMatch HGNC_symbol:SNAP91 Unspecified SNAP91 +OMIM:607922 skos:exactMatch UMLS:C1425345 Unspecified A4GALT +OMIM:607922 skos:exactMatch HGNC_symbol:A4GALT Unspecified A4GALT +OMIM:607922 skos:exactMatch HGNC:18149 Unspecified A4GALT +OMIM:178370 skos:exactMatch UMLS:C0344976 Unspecified pulmonary atresia with ventricular septal defect +OMIM:607921 skos:exactMatch UMLS:C0024437 Unspecified retinitis pigmentosa 30 +OMIM:607921 skos:exactMatch UMLS:C1842816 Unspecified retinitis pigmentosa 30 +OMIM:607928 skos:exactMatch HGNC:16361 Unspecified WHRN +OMIM:607928 skos:exactMatch UMLS:C1424217 Unspecified WHRN +OMIM:607928 skos:exactMatch HGNC_symbol:WHRN Unspecified WHRN +OMIM:607927 skos:exactMatch HGNC_symbol:ANKFY1 Unspecified ANKFY1 +OMIM:607927 skos:exactMatch HGNC:20763 Unspecified ANKFY1 +OMIM:607927 skos:exactMatch UMLS:C1427119 Unspecified ANKFY1 +OMIM:607926 skos:exactMatch UMLS:C1539631 Unspecified HCFC2 +OMIM:607926 skos:exactMatch HGNC:24972 Unspecified HCFC2 +OMIM:607926 skos:exactMatch HGNC_symbol:HCFC2 Unspecified HCFC2 +OMIM:607925 skos:exactMatch HGNC_symbol:BTLA Unspecified BTLA +OMIM:607925 skos:exactMatch HGNC:21087 Unspecified BTLA +OMIM:607925 skos:exactMatch UMLS:C1427306 Unspecified BTLA +OMIM:607929 skos:exactMatch HGNC_symbol:CCM2 Unspecified CCM2 +OMIM:607929 skos:exactMatch HGNC:21708 Unspecified CCM2 +OMIM:607929 skos:exactMatch UMLS:C1427709 Unspecified CCM2 +OMIM:274180 skos:exactMatch HGNC_symbol:TBXAS1 Unspecified TBXAS1 +OMIM:274180 skos:exactMatch UMLS:C4016444 Unspecified TBXAS1 +OMIM:274180 skos:exactMatch HGNC:11609 Unspecified TBXAS1 +OMIM:274180 skos:exactMatch UMLS:C1420620 Unspecified TBXAS1 +OMIM:191343 skos:exactMatch UMLS:C1419730 Unspecified RPS27A +OMIM:191343 skos:exactMatch HGNC_symbol:RPS27A Unspecified RPS27A +OMIM:191343 skos:exactMatch HGNC:10417 Unspecified RPS27A +OMIM:191342 skos:exactMatch HGNC:12513 Unspecified UCHL1 +OMIM:191342 skos:exactMatch UMLS:C1421309 Unspecified UCHL1 +OMIM:191342 skos:exactMatch UMLS:C4015968 Unspecified UCHL1 +OMIM:191342 skos:exactMatch HGNC_symbol:UCHL1 Unspecified UCHL1 +OMIM:191342 skos:exactMatch UMLS:C3150899 Unspecified UCHL1 +OMIM:191342 skos:exactMatch UMLS:C3809665 Unspecified UCHL1 +OMIM:607931 skos:exactMatch HGNC_symbol:ATXN2L Unspecified ATXN2L +OMIM:607931 skos:exactMatch UMLS:C1538300 Unspecified ATXN2L +OMIM:607931 skos:exactMatch HGNC:31326 Unspecified ATXN2L +OMIM:191340 skos:exactMatch HGNC_symbol:UBC Unspecified UBC +OMIM:191340 skos:exactMatch HGNC:12468 Unspecified UBC +OMIM:191340 skos:exactMatch UMLS:C1421267 Unspecified UBC +OMIM:607930 skos:exactMatch UMLS:C1539216 Unspecified CYTL1 +OMIM:607930 skos:exactMatch HGNC:24435 Unspecified CYTL1 +OMIM:607930 skos:exactMatch HGNC_symbol:CYTL1 Unspecified CYTL1 +OMIM:607913 skos:exactMatch HGNC:4558 Unspecified GPX6 +OMIM:607913 skos:exactMatch UMLS:C1415280 Unspecified GPX6 +OMIM:607913 skos:exactMatch HGNC_symbol:GPX6 Unspecified GPX6 +OMIM:607912 skos:exactMatch HGNC_symbol:SELENOT Unspecified SELENOT +OMIM:607912 skos:exactMatch HGNC:18136 Unspecified SELENOT +OMIM:607912 skos:exactMatch UMLS:C1842835 Unspecified SELENOT +OMIM:607911 skos:exactMatch UMLS:C1426372 Unspecified EPM2AIP1 +OMIM:607911 skos:exactMatch HGNC_symbol:EPM2AIP1 Unspecified EPM2AIP1 +OMIM:607911 skos:exactMatch HGNC:19735 Unspecified EPM2AIP1 +OMIM:607910 skos:exactMatch HGNC_symbol:KIF9 Unspecified KIF9 +OMIM:607910 skos:exactMatch UMLS:C1424476 Unspecified KIF9 +OMIM:607910 skos:exactMatch HGNC:16666 Unspecified KIF9 +OMIM:607917 skos:exactMatch HGNC_symbol:SELENOO Unspecified SELENOO +OMIM:607917 skos:exactMatch HGNC:30395 Unspecified SELENOO +OMIM:607917 skos:exactMatch UMLS:C1842832 Unspecified SELENOO +OMIM:607916 skos:exactMatch HGNC_symbol:SELENOK Unspecified SELENOK +OMIM:607916 skos:exactMatch HGNC:30394 Unspecified SELENOK +OMIM:607916 skos:exactMatch UMLS:C1842833 Unspecified SELENOK +OMIM:607915 skos:exactMatch HGNC_symbol:SELENOI Unspecified SELENOI +OMIM:607915 skos:exactMatch UMLS:C5394033 Unspecified SELENOI +OMIM:607915 skos:exactMatch UMLS:C1842834 Unspecified SELENOI +OMIM:607915 skos:exactMatch HGNC:29361 Unspecified SELENOI +OMIM:607914 skos:exactMatch HGNC_symbol:SELENOH Unspecified SELENOH +OMIM:607914 skos:exactMatch UMLS:C1425397 Unspecified SELENOH +OMIM:607914 skos:exactMatch HGNC:18251 Unspecified SELENOH +OMIM:607919 skos:exactMatch UMLS:C1842828 Unspecified SELENOV +OMIM:607919 skos:exactMatch HGNC_symbol:SELENOV Unspecified SELENOV +OMIM:607919 skos:exactMatch HGNC:30399 Unspecified SELENOV +OMIM:607918 skos:exactMatch UMLS:C1842829 Unspecified SELENOS +OMIM:607918 skos:exactMatch HGNC_symbol:SELENOS Unspecified SELENOS +OMIM:607918 skos:exactMatch HGNC:30396 Unspecified SELENOS +OMIM:191350 skos:exactMatch UMLS:C1414133 Unspecified DPAGT1 +OMIM:191350 skos:exactMatch HGNC:2995 Unspecified DPAGT1 +OMIM:191350 skos:exactMatch HGNC_symbol:DPAGT1 Unspecified DPAGT1 +OMIM:178350 skos:exactMatch UMLS:C1867436 Unspecified pubic bone dysplasia +OMIM:262190 skos:exactMatch UMLS:C0271695 Unspecified pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities +OMIM:607902 skos:exactMatch UMLS:C1823075 Unspecified SNUPN +OMIM:607902 skos:exactMatch HGNC:14245 Unspecified SNUPN +OMIM:607902 skos:exactMatch HGNC_symbol:SNUPN Unspecified SNUPN +OMIM:191329 skos:exactMatch HGNC_symbol:UQCRC2 Unspecified UQCRC2 +OMIM:191329 skos:exactMatch UMLS:C1442768 Unspecified UQCRC2 +OMIM:191329 skos:exactMatch HGNC:12586 Unspecified UQCRC2 +OMIM:607901 skos:exactMatch HGNC:23151 Unspecified FERMT3 +OMIM:607901 skos:exactMatch HGNC_symbol:FERMT3 Unspecified FERMT3 +OMIM:607901 skos:exactMatch UMLS:C1842840 Unspecified FERMT3 +OMIM:607900 skos:exactMatch HGNC:15889 Unspecified FERMT1 +OMIM:607900 skos:exactMatch UMLS:C1423809 Unspecified FERMT1 +OMIM:607900 skos:exactMatch HGNC_symbol:FERMT1 Unspecified FERMT1 +OMIM:191327 skos:exactMatch UMLS:C5394051 Unspecified UQCRFS1 +OMIM:191327 skos:exactMatch HGNC_symbol:UQCRFS1 Unspecified UQCRFS1 +OMIM:191327 skos:exactMatch HGNC:12587 Unspecified UQCRFS1 +OMIM:191327 skos:exactMatch UMLS:C1421371 Unspecified UQCRFS1 +OMIM:191328 skos:exactMatch HGNC_symbol:UQCRC1 Unspecified UQCRC1 +OMIM:191328 skos:exactMatch UMLS:C1442767 Unspecified UQCRC1 +OMIM:191328 skos:exactMatch HGNC:12585 Unspecified UQCRC1 +OMIM:191325 skos:exactMatch HGNC:12471 Unspecified UBE7 +OMIM:191325 skos:exactMatch UMLS:C1421270 Unspecified UBE7 +OMIM:191325 skos:exactMatch HGNC_symbol:UBA7 Unspecified UBE7 +OMIM:607906 skos:exactMatch UMLS:C1842836 Unspecified congenital disorder of glycosylation, iia ii +OMIM:607905 skos:exactMatch UMLS:C1427955 Unspecified ALG2 +OMIM:607905 skos:exactMatch HGNC_symbol:ALG2 Unspecified ALG2 +OMIM:607905 skos:exactMatch HGNC:23159 Unspecified ALG2 +OMIM:607904 skos:exactMatch HGNC:1395 Unspecified CACNA1H +OMIM:607904 skos:exactMatch UMLS:C1413062 Unspecified CACNA1H +OMIM:607904 skos:exactMatch HGNC_symbol:CACNA1H Unspecified CACNA1H +OMIM:607903 skos:exactMatch UMLS:C1842839 Unspecified hypotrichosis 6 +OMIM:607909 skos:exactMatch HGNC:16432 Unspecified AZIN1 +OMIM:607909 skos:exactMatch HGNC_symbol:AZIN1 Unspecified AZIN1 +OMIM:607909 skos:exactMatch UMLS:C1538311 Unspecified AZIN1 +OMIM:607908 skos:exactMatch HGNC:16084 Unspecified LIMS2 +OMIM:607908 skos:exactMatch HGNC_symbol:LIMS2 Unspecified LIMS2 +OMIM:607908 skos:exactMatch UMLS:C1423965 Unspecified LIMS2 +OMIM:607907 skos:exactMatch UMLS:C3693482 Unspecified dermatofibrosarcoma protuberans +OMIM:274150 skos:exactMatch UMLS:C1956258 Unspecified thrombotic thrombocytopenic purpura, hereditary +OMIM:274150 skos:exactMatch ORPHA:93583 Unspecified thrombotic thrombocytopenic purpura, hereditary +OMIM:274150 skos:exactMatch UMLS:C1268935 Unspecified thrombotic thrombocytopenic purpura, hereditary +OMIM:274150 skos:exactMatch ORPHA:54057 Unspecified thrombotic thrombocytopenic purpura, hereditary +OMIM:191321 skos:exactMatch HGNC:12458 Unspecified UBA52 +OMIM:191321 skos:exactMatch UMLS:C1421257 Unspecified UBA52 +OMIM:191321 skos:exactMatch HGNC_symbol:UBA52 Unspecified UBA52 +OMIM:105400 skos:exactMatch ORPHA:803 Unspecified amyotrophic lateral sclerosis 1 +OMIM:105400 skos:exactMatch UMLS:C1862939 Unspecified amyotrophic lateral sclerosis 1 +OMIM:191339 skos:exactMatch HGNC_symbol:UBB Unspecified UBB +OMIM:191339 skos:exactMatch HGNC:12463 Unspecified UBB +OMIM:191339 skos:exactMatch UMLS:C1421262 Unspecified UBB +OMIM:311790 skos:exactMatch HGNC:8872 Unspecified PFKFB1 +OMIM:311790 skos:exactMatch HGNC_symbol:PFKFB1 Unspecified PFKFB1 +OMIM:311790 skos:exactMatch UMLS:C1418487 Unspecified PFKFB1 +OMIM:191330 skos:exactMatch HGNC:12582 Unspecified UQCRB +OMIM:191330 skos:exactMatch UMLS:C1421368 Unspecified UQCRB +OMIM:191330 skos:exactMatch HGNC_symbol:UQCRB Unspecified UQCRB +OMIM:607968 skos:exactMatch UMLS:C1842747 Unspecified None +OMIM:607968 skos:exactMatch HGNC_symbol:BBS9 Unspecified None +OMIM:607968 skos:exactMatch HGNC:30000 Unspecified None +OMIM:605305 skos:exactMatch UMLS:C1825709 Unspecified KIR2DL5A +OMIM:605305 skos:exactMatch HGNC:16345 Unspecified KIR2DL5A +OMIM:605305 skos:exactMatch HGNC_symbol:KIR2DL5A Unspecified KIR2DL5A +OMIM:607967 skos:exactMatch UMLS:C1842755 Unspecified systemic lupus erythematosus with nephritis, susceptibility to, 3 +OMIM:605306 skos:exactMatch HGNC_symbol:CLEC4A Unspecified CLEC4A +OMIM:605306 skos:exactMatch HGNC:13257 Unspecified CLEC4A +OMIM:605306 skos:exactMatch UMLS:C1539093 Unspecified CLEC4A +OMIM:607966 skos:exactMatch UMLS:C1842756 Unspecified systemic lupus erythematosus with nephritis, susceptibility to, 2 +OMIM:605303 skos:exactMatch HGNC:11524 Unspecified TACC3 +OMIM:605303 skos:exactMatch HGNC_symbol:TACC3 Unspecified TACC3 +OMIM:605303 skos:exactMatch UMLS:C1336558 Unspecified TACC3 +OMIM:605304 skos:exactMatch UMLS:C1422393 Unspecified NGB +OMIM:605304 skos:exactMatch HGNC:14077 Unspecified NGB +OMIM:605304 skos:exactMatch HGNC_symbol:NGB Unspecified NGB +OMIM:607965 skos:exactMatch UMLS:C1842757 Unspecified systemic lupus erythematosus with nephritis, susceptibility to, 1 +OMIM:605309 skos:exactMatch UMLS:C1854416 Unspecified macrocephaly/autism syndrome +OMIM:605307 skos:exactMatch HGNC:13708 Unspecified ADMR +OMIM:605307 skos:exactMatch UMLS:C1422155 Unspecified ADMR +OMIM:605307 skos:exactMatch HGNC_symbol:GPR182 Unspecified ADMR +OMIM:607969 skos:exactMatch UMLS:C1422133 Unspecified CLK4 +OMIM:607969 skos:exactMatch HGNC_symbol:CLK4 Unspecified CLK4 +OMIM:607969 skos:exactMatch HGNC:13659 Unspecified CLK4 +OMIM:605308 skos:exactMatch UMLS:C1538184 Unspecified ZNF346 +OMIM:605308 skos:exactMatch HGNC_symbol:ZNF346 Unspecified ZNF346 +OMIM:605308 skos:exactMatch HGNC:16403 Unspecified ZNF346 +OMIM:607971 skos:exactMatch HGNC:13621 Unspecified SLC6A15 +OMIM:607971 skos:exactMatch HGNC_symbol:SLC6A15 Unspecified SLC6A15 +OMIM:607971 skos:exactMatch UMLS:C1422111 Unspecified SLC6A15 +OMIM:607970 skos:exactMatch UMLS:C1426588 Unspecified GPR135 +OMIM:607970 skos:exactMatch HGNC_symbol:GPR135 Unspecified GPR135 +OMIM:607970 skos:exactMatch HGNC:19991 Unspecified GPR135 +OMIM:605312 skos:exactMatch UMLS:C1335222 Unspecified GDF15 +OMIM:605312 skos:exactMatch HGNC:30142 Unspecified GDF15 +OMIM:605312 skos:exactMatch HGNC_symbol:GDF15 Unspecified GDF15 +OMIM:607975 skos:exactMatch UMLS:C1826517 Unspecified OSGIN1 +OMIM:607975 skos:exactMatch HGNC:30093 Unspecified OSGIN1 +OMIM:607975 skos:exactMatch HGNC_symbol:OSGIN1 Unspecified OSGIN1 +OMIM:607974 skos:exactMatch UMLS:C1422809 Unspecified NETO2 +OMIM:607974 skos:exactMatch HGNC_symbol:NETO2 Unspecified NETO2 +OMIM:607974 skos:exactMatch HGNC:14644 Unspecified NETO2 +OMIM:605313 skos:exactMatch HGNC:9905 Unspecified RBM8A +OMIM:605313 skos:exactMatch HGNC_symbol:RBM8A Unspecified RBM8A +OMIM:605313 skos:exactMatch UMLS:C1419303 Unspecified RBM8A +OMIM:605310 skos:exactMatch HGNC_symbol:CCHCR1 Unspecified CCHCR1 +OMIM:605310 skos:exactMatch UMLS:C1539075 Unspecified CCHCR1 +OMIM:605310 skos:exactMatch HGNC:13930 Unspecified CCHCR1 +OMIM:607973 skos:exactMatch HGNC_symbol:NETO1 Unspecified NETO1 +OMIM:607973 skos:exactMatch HGNC:13823 Unspecified NETO1 +OMIM:607973 skos:exactMatch UMLS:C1422217 Unspecified NETO1 +OMIM:607972 skos:exactMatch HGNC:13622 Unspecified SLC6A16 +OMIM:607972 skos:exactMatch HGNC_symbol:SLC6A16 Unspecified SLC6A16 +OMIM:607972 skos:exactMatch UMLS:C1422112 Unspecified SLC6A16 +OMIM:607957 skos:exactMatch HGNC:19341 Unspecified CAMK1D +OMIM:607957 skos:exactMatch HGNC_symbol:CAMK1D Unspecified CAMK1D +OMIM:607957 skos:exactMatch UMLS:C1426175 Unspecified CAMK1D +OMIM:607956 skos:exactMatch HGNC:19971 Unspecified MED8 +OMIM:607956 skos:exactMatch HGNC_symbol:MED8 Unspecified MED8 +OMIM:607956 skos:exactMatch UMLS:C1426572 Unspecified MED8 +OMIM:607955 skos:exactMatch HGNC:19182 Unspecified SASH1 +OMIM:607955 skos:exactMatch UMLS:C5193062 Unspecified SASH1 +OMIM:607955 skos:exactMatch UMLS:C2675711 Unspecified SASH1 +OMIM:607955 skos:exactMatch HGNC_symbol:SASH1 Unspecified SASH1 +OMIM:607955 skos:exactMatch UMLS:C1426071 Unspecified SASH1 +OMIM:607954 skos:exactMatch UMLS:C1842760 Unspecified RANGRF +OMIM:607954 skos:exactMatch HGNC:17679 Unspecified RANGRF +OMIM:607954 skos:exactMatch HGNC_symbol:RANGRF Unspecified RANGRF +OMIM:607959 skos:exactMatch HGNC_symbol:SLC7A10 Unspecified SLC7A10 +OMIM:607959 skos:exactMatch HGNC:11058 Unspecified SLC7A10 +OMIM:607959 skos:exactMatch UMLS:C1420221 Unspecified SLC7A10 +OMIM:607958 skos:exactMatch HGNC:19666 Unspecified STXBP6 +OMIM:607958 skos:exactMatch UMLS:C1426316 Unspecified STXBP6 +OMIM:607958 skos:exactMatch HGNC_symbol:STXBP6 Unspecified STXBP6 +OMIM:191390 skos:exactMatch UMLS:C2674051 Unspecified inflammatory bowel disease 11 +OMIM:607960 skos:exactMatch HGNC:16717 Unspecified DHX32 +OMIM:607960 skos:exactMatch UMLS:C1424503 Unspecified DHX32 +OMIM:607960 skos:exactMatch HGNC_symbol:DHX32 Unspecified DHX32 +OMIM:605301 skos:exactMatch HGNC_symbol:TACC1 Unspecified TACC1 +OMIM:605301 skos:exactMatch HGNC:11522 Unspecified TACC1 +OMIM:605301 skos:exactMatch UMLS:C1336556 Unspecified TACC1 +OMIM:607964 skos:exactMatch HGNC:18532 Unspecified MBD3L2 +OMIM:607964 skos:exactMatch UMLS:C1425580 Unspecified MBD3L2 +OMIM:607964 skos:exactMatch HGNC_symbol:MBD3L2 Unspecified MBD3L2 +OMIM:605302 skos:exactMatch HGNC:11523 Unspecified TACC2 +OMIM:605302 skos:exactMatch HGNC_symbol:TACC2 Unspecified TACC2 +OMIM:605302 skos:exactMatch UMLS:C1336557 Unspecified TACC2 +OMIM:607963 skos:exactMatch HGNC:15774 Unspecified MBD3L1 +OMIM:607963 skos:exactMatch HGNC_symbol:MBD3L1 Unspecified MBD3L1 +OMIM:607963 skos:exactMatch UMLS:C1423722 Unspecified MBD3L1 +OMIM:607962 skos:exactMatch HGNC_symbol:MIR23A Unspecified MIR23A +OMIM:607962 skos:exactMatch UMLS:C1842758 Unspecified MIR23A +OMIM:607962 skos:exactMatch HGNC:31605 Unspecified MIR23A +OMIM:607961 skos:exactMatch HGNC:10741 Unspecified SEMA7A +OMIM:607961 skos:exactMatch HGNC_symbol:SEMA7A Unspecified SEMA7A +OMIM:607961 skos:exactMatch UMLS:C1419959 Unspecified SEMA7A +OMIM:605300 skos:exactMatch HGNC:17381 Unspecified SH2B2 +OMIM:605300 skos:exactMatch HGNC_symbol:SH2B2 Unspecified SH2B2 +OMIM:605300 skos:exactMatch UMLS:C1822704 Unspecified SH2B2 +OMIM:607946 skos:exactMatch HGNC:24041 Unspecified ADIPOR2 +OMIM:607946 skos:exactMatch UMLS:C1540189 Unspecified ADIPOR2 +OMIM:607946 skos:exactMatch HGNC_symbol:ADIPOR2 Unspecified ADIPOR2 +OMIM:607945 skos:exactMatch HGNC:24040 Unspecified ADIPOR1 +OMIM:607945 skos:exactMatch UMLS:C1540188 Unspecified ADIPOR1 +OMIM:607945 skos:exactMatch HGNC_symbol:ADIPOR1 Unspecified ADIPOR1 +OMIM:607944 skos:exactMatch UMLS:C1842763 Unspecified spondyloenchondrodysplasia with immune dysregulation +OMIM:607943 skos:exactMatch HGNC_symbol:RASA4 Unspecified RASA4 +OMIM:607943 skos:exactMatch HGNC:23181 Unspecified RASA4 +OMIM:607943 skos:exactMatch UMLS:C1427971 Unspecified RASA4 +OMIM:607949 skos:exactMatch UMLS:C1842762 Unspecified mycobacterium tuberculosis, susceptibility to, 1 +OMIM:607948 skos:exactMatch UMLS:C1834752 Unspecified mycobacterium tuberculosis, susceptibility to +OMIM:607948 skos:exactMatch UMLS:C1969665 Unspecified mycobacterium tuberculosis, susceptibility to +OMIM:607947 skos:exactMatch UMLS:C1425861 Unspecified KCNRG +OMIM:607947 skos:exactMatch HGNC:18893 Unspecified KCNRG +OMIM:607947 skos:exactMatch HGNC_symbol:KCNRG Unspecified KCNRG +OMIM:607953 skos:exactMatch UMLS:C1539921 Unspecified TAGLN3 +OMIM:607953 skos:exactMatch HGNC:29868 Unspecified TAGLN3 +OMIM:607953 skos:exactMatch HGNC_symbol:TAGLN3 Unspecified TAGLN3 +OMIM:607952 skos:exactMatch UMLS:C1420208 Unspecified SLC6A11 +OMIM:607952 skos:exactMatch HGNC_symbol:SLC6A11 Unspecified SLC6A11 +OMIM:607952 skos:exactMatch HGNC:11044 Unspecified SLC6A11 +OMIM:607951 skos:exactMatch UMLS:C1824710 Unspecified CEP57 +OMIM:607951 skos:exactMatch HGNC_symbol:CEP57 Unspecified CEP57 +OMIM:607951 skos:exactMatch HGNC:30794 Unspecified CEP57 +OMIM:607950 skos:exactMatch UMLS:C1842761 Unspecified None +OMIM:607950 skos:exactMatch HGNC:17910 Unspecified None +OMIM:607950 skos:exactMatch HGNC_symbol:PRSS50 Unspecified None +OMIM:607935 skos:exactMatch UMLS:C1425460 Unspecified PADI2 +OMIM:607935 skos:exactMatch HGNC_symbol:PADI2 Unspecified PADI2 +OMIM:607935 skos:exactMatch HGNC:18341 Unspecified PADI2 +OMIM:607934 skos:exactMatch UMLS:C1425477 Unspecified PADI1 +OMIM:607934 skos:exactMatch HGNC_symbol:PADI1 Unspecified PADI1 +OMIM:607934 skos:exactMatch HGNC:18367 Unspecified PADI1 +OMIM:607933 skos:exactMatch HGNC_symbol:SLC7A11 Unspecified SLC7A11 +OMIM:607933 skos:exactMatch HGNC:11059 Unspecified SLC7A11 +OMIM:607933 skos:exactMatch UMLS:C1420222 Unspecified SLC7A11 +OMIM:607932 skos:exactMatch UMLS:C1864689 Unspecified microphthalmia, syndromic 6 +OMIM:607939 skos:exactMatch HGNC_symbol:SUMF1 Unspecified SUMF1 +OMIM:607939 skos:exactMatch UMLS:C1539893 Unspecified SUMF1 +OMIM:607939 skos:exactMatch HGNC:20376 Unspecified SUMF1 +OMIM:607938 skos:exactMatch HGNC_symbol:NTM Unspecified NTM +OMIM:607938 skos:exactMatch UMLS:C1842796 Unspecified NTM +OMIM:607938 skos:exactMatch HGNC:17941 Unspecified NTM +OMIM:607937 skos:exactMatch HGNC_symbol:NANOG Unspecified NANOG +OMIM:607937 skos:exactMatch HGNC:20857 Unspecified NANOG +OMIM:607937 skos:exactMatch UMLS:C1427164 Unspecified NANOG +OMIM:607936 skos:exactMatch UMLS:C4225407 Unspecified peeling skin syndrome 4 +OMIM:607936 skos:exactMatch UMLS:C1838440 Unspecified peeling skin syndrome 4 +OMIM:607942 skos:exactMatch UMLS:C1538646 Unspecified PIK3AP1 +OMIM:607942 skos:exactMatch HGNC_symbol:PIK3AP1 Unspecified PIK3AP1 +OMIM:607942 skos:exactMatch HGNC:30034 Unspecified PIK3AP1 +OMIM:607941 skos:exactMatch UMLS:C1842778 Unspecified atrial septal defect 2 +OMIM:607940 skos:exactMatch UMLS:C1539894 Unspecified SUMF2 +OMIM:607940 skos:exactMatch HGNC:20415 Unspecified SUMF2 +OMIM:607940 skos:exactMatch HGNC_symbol:SUMF2 Unspecified SUMF2 +OMIM:605468 skos:exactMatch HGNC:17147 Unspecified CDC42EP4 +OMIM:605468 skos:exactMatch HGNC_symbol:CDC42EP4 Unspecified CDC42EP4 +OMIM:605468 skos:exactMatch UMLS:C1424779 Unspecified CDC42EP4 +OMIM:605469 skos:exactMatch HGNC:17071 Unspecified KDM4C +OMIM:605469 skos:exactMatch HGNC_symbol:KDM4C Unspecified KDM4C +OMIM:605469 skos:exactMatch UMLS:C1424723 Unspecified KDM4C +OMIM:617451 skos:exactMatch HGNC:23437 Unspecified AKR1E2 +OMIM:617451 skos:exactMatch HGNC_symbol:AKR1E2 Unspecified AKR1E2 +OMIM:617451 skos:exactMatch UMLS:C1428085 Unspecified AKR1E2 +OMIM:617450 skos:exactMatch UMLS:C4479517 Unspecified jansen-de vries syndrome +OMIM:617453 skos:exactMatch HGNC:21882 Unspecified TTC26 +OMIM:617453 skos:exactMatch UMLS:C1823530 Unspecified TTC26 +OMIM:617453 skos:exactMatch HGNC_symbol:TTC26 Unspecified TTC26 +OMIM:617452 skos:exactMatch UMLS:C4479520 Unspecified intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies +OMIM:617455 skos:exactMatch HGNC:15763 Unspecified POLR3F +OMIM:617455 skos:exactMatch HGNC_symbol:POLR3F Unspecified POLR3F +OMIM:617455 skos:exactMatch UMLS:C1423712 Unspecified POLR3F +OMIM:617454 skos:exactMatch HGNC:30076 Unspecified POLR3C +OMIM:617454 skos:exactMatch HGNC_symbol:POLR3C Unspecified POLR3C +OMIM:617454 skos:exactMatch UMLS:C1538697 Unspecified POLR3C +OMIM:617457 skos:exactMatch HGNC:28466 Unspecified POLR3GL +OMIM:617457 skos:exactMatch HGNC_symbol:POLR3GL Unspecified POLR3GL +OMIM:617457 skos:exactMatch UMLS:C1538700 Unspecified POLR3GL +OMIM:617456 skos:exactMatch HGNC:30075 Unspecified POLR3G +OMIM:617456 skos:exactMatch HGNC_symbol:POLR3G Unspecified POLR3G +OMIM:617456 skos:exactMatch UMLS:C1538699 Unspecified POLR3G +OMIM:617448 skos:exactMatch UMLS:C1826539 Unspecified PAN3 +OMIM:617448 skos:exactMatch HGNC:29991 Unspecified PAN3 +OMIM:617448 skos:exactMatch HGNC_symbol:PAN3 Unspecified PAN3 +OMIM:617447 skos:exactMatch HGNC:20074 Unspecified PAN2 +OMIM:617447 skos:exactMatch UMLS:C1426662 Unspecified PAN2 +OMIM:617447 skos:exactMatch HGNC_symbol:PAN2 Unspecified PAN2 +OMIM:617449 skos:exactMatch HGNC:20185 Unspecified TMEM260 +OMIM:617449 skos:exactMatch UMLS:C1426758 Unspecified TMEM260 +OMIM:617449 skos:exactMatch HGNC_symbol:TMEM260 Unspecified TMEM260 +OMIM:605470 skos:exactMatch HGNC:14249 Unspecified MMP26 +OMIM:605470 skos:exactMatch HGNC_symbol:MMP26 Unspecified MMP26 +OMIM:605470 skos:exactMatch UMLS:C1422510 Unspecified MMP26 +OMIM:605473 skos:exactMatch HGNC:12510 Unspecified UBQLN3 +OMIM:605473 skos:exactMatch HGNC_symbol:UBQLN3 Unspecified UBQLN3 +OMIM:605473 skos:exactMatch UMLS:C1421306 Unspecified UBQLN3 +OMIM:605474 skos:exactMatch HGNC:15633 Unspecified TLR9 +OMIM:605474 skos:exactMatch HGNC_symbol:TLR9 Unspecified TLR9 +OMIM:605474 skos:exactMatch UMLS:C1423633 Unspecified TLR9 +OMIM:605471 skos:exactMatch HGNC_symbol:ZFYVE1 Unspecified ZFYVE1 +OMIM:605471 skos:exactMatch HGNC:13180 Unspecified ZFYVE1 +OMIM:605471 skos:exactMatch UMLS:C1421862 Unspecified ZFYVE1 +OMIM:605472 skos:exactMatch UMLS:C2676439 Unspecified usher syndrome, iia 2c +OMIM:605472 skos:exactMatch UMLS:C3148929 Unspecified usher syndrome, iia 2c +OMIM:605472 skos:exactMatch UMLS:C2931213 Unspecified usher syndrome, iia 2c +OMIM:605477 skos:exactMatch HGNC_symbol:ARHGEF7 Unspecified ARHGEF7 +OMIM:605477 skos:exactMatch HGNC:15607 Unspecified ARHGEF7 +OMIM:605477 skos:exactMatch UMLS:C1423613 Unspecified ARHGEF7 +OMIM:605478 skos:exactMatch HGNC_symbol:SIGIRR Unspecified SIGIRR +OMIM:605478 skos:exactMatch UMLS:C1822724 Unspecified SIGIRR +OMIM:605478 skos:exactMatch HGNC:30575 Unspecified SIGIRR +OMIM:605475 skos:exactMatch HGNC:947 Unspecified BAIAP2 +OMIM:605475 skos:exactMatch UMLS:C1332378 Unspecified BAIAP2 +OMIM:605475 skos:exactMatch HGNC_symbol:BAIAP2 Unspecified BAIAP2 +OMIM:605476 skos:exactMatch HGNC_symbol:AGAP2 Unspecified AGAP2 +OMIM:605476 skos:exactMatch HGNC:16921 Unspecified AGAP2 +OMIM:605476 skos:exactMatch UMLS:C1424636 Unspecified AGAP2 +OMIM:605459 skos:exactMatch HGNC_symbol:ABCG5 Unspecified ABCG5 +OMIM:605459 skos:exactMatch HGNC:13886 Unspecified ABCG5 +OMIM:605459 skos:exactMatch UMLS:C5231453 Unspecified ABCG5 +OMIM:605459 skos:exactMatch UMLS:C1422255 Unspecified ABCG5 +OMIM:605457 skos:exactMatch HGNC:13700 Unspecified IL22RA1 +OMIM:605457 skos:exactMatch HGNC_symbol:IL22RA1 Unspecified IL22RA1 +OMIM:605457 skos:exactMatch UMLS:C1422150 Unspecified IL22RA1 +OMIM:605458 skos:exactMatch HGNC:18015 Unspecified IL17RB +OMIM:605458 skos:exactMatch UMLS:C1425241 Unspecified IL17RB +OMIM:605458 skos:exactMatch HGNC_symbol:IL17RB Unspecified IL17RB +OMIM:617440 skos:exactMatch HGNC_symbol:PTCSC1 Unspecified PTCSC1 +OMIM:617440 skos:exactMatch HGNC:37127 Unspecified PTCSC1 +OMIM:617440 skos:exactMatch UMLS:C2828582 Unspecified PTCSC1 +OMIM:617442 skos:exactMatch UMLS:C4479510 Unspecified premature ovarian failure 13 +OMIM:617441 skos:exactMatch UMLS:C4479504 Unspecified thrombocytopenia, anemia, and myelofibrosis +OMIM:617444 skos:exactMatch UMLS:C1428020 Unspecified ZNF479 +OMIM:617444 skos:exactMatch HGNC_symbol:ZNF479 Unspecified ZNF479 +OMIM:617444 skos:exactMatch HGNC:23258 Unspecified ZNF479 +OMIM:617443 skos:exactMatch UMLS:C4479515 Unspecified bleeding disorder, platelet-type, 21 +OMIM:617446 skos:exactMatch UMLS:C1824731 Unspecified CHAC2 +OMIM:617446 skos:exactMatch HGNC:32363 Unspecified CHAC2 +OMIM:617446 skos:exactMatch HGNC_symbol:CHAC2 Unspecified CHAC2 +OMIM:617445 skos:exactMatch HGNC:18533 Unspecified USP48 +OMIM:617445 skos:exactMatch HGNC_symbol:USP48 Unspecified USP48 +OMIM:617445 skos:exactMatch UMLS:C1425581 Unspecified USP48 +OMIM:617437 skos:exactMatch HGNC_symbol:S100A16 Unspecified S100A16 +OMIM:617437 skos:exactMatch HGNC:20441 Unspecified S100A16 +OMIM:617437 skos:exactMatch UMLS:C1426939 Unspecified S100A16 +OMIM:617436 skos:exactMatch UMLS:C4320392 Unspecified GON7 +OMIM:617436 skos:exactMatch HGNC_symbol:GON7 Unspecified GON7 +OMIM:617436 skos:exactMatch HGNC:20356 Unspecified GON7 +OMIM:617439 skos:exactMatch UMLS:C4479496 Unspecified craniosynostosis 7 +OMIM:617438 skos:exactMatch HGNC_symbol:CBX6 Unspecified CBX6 +OMIM:617438 skos:exactMatch HGNC:1556 Unspecified CBX6 +OMIM:617438 skos:exactMatch UMLS:C1413161 Unspecified CBX6 +OMIM:605462 skos:exactMatch UMLS:C1854245 Unspecified basal cell carcinoma, susceptibility to, 1 +OMIM:605462 skos:exactMatch UMLS:C2751544 Unspecified basal cell carcinoma, susceptibility to, 1 +OMIM:605462 skos:exactMatch UMLS:C2751545 Unspecified basal cell carcinoma, susceptibility to, 1 +OMIM:605463 skos:exactMatch UMLS:C1854244 Unspecified radiation sensitivity/chromosome instability syndrome, autosomal dominant +OMIM:605460 skos:exactMatch HGNC:13887 Unspecified ABCG8 +OMIM:605460 skos:exactMatch UMLS:C5231390 Unspecified ABCG8 +OMIM:605460 skos:exactMatch UMLS:C1422256 Unspecified ABCG8 +OMIM:605460 skos:exactMatch HGNC_symbol:ABCG8 Unspecified ABCG8 +OMIM:605460 skos:exactMatch UMLS:C1969115 Unspecified ABCG8 +OMIM:605461 skos:exactMatch HGNC_symbol:IL17RA Unspecified IL17RA +OMIM:605461 skos:exactMatch HGNC:5985 Unspecified IL17RA +OMIM:605461 skos:exactMatch UMLS:C1825593 Unspecified IL17RA +OMIM:605466 skos:exactMatch HGNC_symbol:SIRPG Unspecified SIRPG +OMIM:605466 skos:exactMatch HGNC:15757 Unspecified SIRPG +OMIM:605466 skos:exactMatch UMLS:C1822728 Unspecified SIRPG +OMIM:605467 skos:exactMatch HGNC_symbol:ZNF274 Unspecified ZNF274 +OMIM:605467 skos:exactMatch UMLS:C1421760 Unspecified ZNF274 +OMIM:605467 skos:exactMatch UMLS:C1854242 Unspecified ZNF274 +OMIM:605467 skos:exactMatch HGNC:13068 Unspecified ZNF274 +OMIM:605464 skos:exactMatch HGNC:49 Unspecified ABCB8 +OMIM:605464 skos:exactMatch UMLS:C1412074 Unspecified ABCB8 +OMIM:605464 skos:exactMatch HGNC_symbol:ABCB8 Unspecified ABCB8 +OMIM:605465 skos:exactMatch UMLS:C1823968 Unspecified ZNF277 +OMIM:605465 skos:exactMatch HGNC:13070 Unspecified ZNF277 +OMIM:605465 skos:exactMatch HGNC_symbol:ZNF277 Unspecified ZNF277 +OMIM:605448 skos:exactMatch HGNC_symbol:RUNDC3A Unspecified RUNDC3A +OMIM:605448 skos:exactMatch UMLS:C1854259 Unspecified RUNDC3A +OMIM:605448 skos:exactMatch HGNC:16984 Unspecified RUNDC3A +OMIM:605449 skos:exactMatch HGNC:4628 Unspecified GSTA3 +OMIM:605449 skos:exactMatch UMLS:C1415330 Unspecified GSTA3 +OMIM:605449 skos:exactMatch HGNC_symbol:GSTA3 Unspecified GSTA3 +OMIM:605446 skos:exactMatch UMLS:C1421991 Unspecified RPGRIP1 +OMIM:605446 skos:exactMatch HGNC_symbol:RPGRIP1 Unspecified RPGRIP1 +OMIM:605446 skos:exactMatch HGNC:13436 Unspecified RPGRIP1 +OMIM:605447 skos:exactMatch UMLS:C1425994 Unspecified SNHG32 +OMIM:605447 skos:exactMatch HGNC_symbol:SNHG32 Unspecified SNHG32 +OMIM:605447 skos:exactMatch HGNC:19078 Unspecified SNHG32 +OMIM:617431 skos:exactMatch HGNC:29255 Unspecified USP53 +OMIM:617431 skos:exactMatch UMLS:C1428821 Unspecified USP53 +OMIM:617431 skos:exactMatch HGNC_symbol:USP53 Unspecified USP53 +OMIM:617430 skos:exactMatch HGNC_symbol:ADGRF1 Unspecified ADGRF1 +OMIM:617430 skos:exactMatch HGNC:18990 Unspecified ADGRF1 +OMIM:617430 skos:exactMatch UMLS:C1425936 Unspecified ADGRF1 +OMIM:617433 skos:exactMatch UMLS:C4479481 Unspecified retinitis pigmentosa 78 +OMIM:617432 skos:exactMatch UMLS:C4479476 Unspecified intellectual developmental disorder, autosomal recessive 60 +OMIM:617435 skos:exactMatch UMLS:C4479491 Unspecified lopes-maciel-rodan syndrome +OMIM:617434 skos:exactMatch HGNC:51354 Unspecified None +OMIM:617434 skos:exactMatch HGNC_symbol:CERNA2 Unspecified None +OMIM:617434 skos:exactMatch UMLS:C4320014 Unspecified None +OMIM:617426 skos:exactMatch HGNC_symbol:CRCT1 Unspecified CRCT1 +OMIM:617426 skos:exactMatch UMLS:C1824788 Unspecified CRCT1 +OMIM:617426 skos:exactMatch HGNC:29875 Unspecified CRCT1 +OMIM:617425 skos:exactMatch UMLS:C4479452 Unspecified immunoskeletal dysplasia with neurodevelopmental abnormalities +OMIM:617428 skos:exactMatch UMLS:C1538983 Unspecified C1ORF43 +OMIM:617428 skos:exactMatch HGNC_symbol:C1orf43 Unspecified C1ORF43 +OMIM:617428 skos:exactMatch HGNC:29876 Unspecified C1ORF43 +OMIM:617427 skos:exactMatch UMLS:C1826961 Unspecified S100A7A +OMIM:617427 skos:exactMatch HGNC_symbol:S100A7A Unspecified S100A7A +OMIM:617427 skos:exactMatch HGNC:21657 Unspecified S100A7A +OMIM:617429 skos:exactMatch UMLS:C1823571 Unspecified UBE2Q1 +OMIM:617429 skos:exactMatch HGNC:15698 Unspecified UBE2Q1 +OMIM:617429 skos:exactMatch HGNC_symbol:UBE2Q1 Unspecified UBE2Q1 +OMIM:605451 skos:exactMatch HGNC:16059 Unspecified PAK4 +OMIM:605451 skos:exactMatch HGNC_symbol:PAK4 Unspecified PAK4 +OMIM:605451 skos:exactMatch UMLS:C1423944 Unspecified PAK4 +OMIM:605452 skos:exactMatch HGNC:47 Unspecified ABCB6 +OMIM:605452 skos:exactMatch UMLS:C1332001 Unspecified ABCB6 +OMIM:605452 skos:exactMatch HGNC_symbol:ABCB6 Unspecified ABCB6 +OMIM:605450 skos:exactMatch UMLS:C1415331 Unspecified GSTA4 +OMIM:605450 skos:exactMatch HGNC_symbol:GSTA4 Unspecified GSTA4 +OMIM:605450 skos:exactMatch HGNC:4629 Unspecified GSTA4 +OMIM:605455 skos:exactMatch HGNC_symbol:RAB26 Unspecified RAB26 +OMIM:605455 skos:exactMatch HGNC:14259 Unspecified RAB26 +OMIM:605455 skos:exactMatch UMLS:C1422520 Unspecified RAB26 +OMIM:605456 skos:exactMatch UMLS:C1422759 Unspecified BET1 +OMIM:605456 skos:exactMatch HGNC_symbol:BET1 Unspecified BET1 +OMIM:605456 skos:exactMatch HGNC:14562 Unspecified BET1 +OMIM:605453 skos:exactMatch HGNC_symbol:ABCB9 Unspecified ABCB9 +OMIM:605453 skos:exactMatch HGNC:50 Unspecified ABCB9 +OMIM:605453 skos:exactMatch UMLS:C1412075 Unspecified ABCB9 +OMIM:605454 skos:exactMatch HGNC:41 Unspecified ABCB10 +OMIM:605454 skos:exactMatch HGNC_symbol:ABCB10 Unspecified ABCB10 +OMIM:605454 skos:exactMatch UMLS:C1412069 Unspecified ABCB10 +OMIM:605437 skos:exactMatch HGNC_symbol:PRKCH Unspecified PRKCH +OMIM:605437 skos:exactMatch UMLS:C1418920 Unspecified PRKCH +OMIM:605437 skos:exactMatch HGNC:9403 Unspecified PRKCH +OMIM:605438 skos:exactMatch HGNC_symbol:DLGAP2 Unspecified DLGAP2 +OMIM:605438 skos:exactMatch UMLS:C1414068 Unspecified DLGAP2 +OMIM:605438 skos:exactMatch HGNC:2906 Unspecified DLGAP2 +OMIM:605435 skos:exactMatch HGNC_symbol:PRKD1 Unspecified PRKD1 +OMIM:605435 skos:exactMatch UMLS:C1538716 Unspecified PRKD1 +OMIM:605435 skos:exactMatch HGNC:9407 Unspecified PRKD1 +OMIM:605436 skos:exactMatch UMLS:C2240000 Unspecified SNORD116-1 +OMIM:605436 skos:exactMatch HGNC:33067 Unspecified SNORD116-1 +OMIM:605436 skos:exactMatch HGNC_symbol:SNORD116-1 Unspecified SNORD116-1 +OMIM:605439 skos:exactMatch UMLS:C1333333 Unspecified EHF +OMIM:605439 skos:exactMatch HGNC:3246 Unspecified EHF +OMIM:605439 skos:exactMatch HGNC_symbol:EHF Unspecified EHF +OMIM:617420 skos:exactMatch HGNC_symbol:KICS2 Unspecified KICS2 +OMIM:617420 skos:exactMatch HGNC:26517 Unspecified KICS2 +OMIM:617420 skos:exactMatch UMLS:C2681273 Unspecified KICS2 +OMIM:617422 skos:exactMatch HGNC:23803 Unspecified ADNP2 +OMIM:617422 skos:exactMatch HGNC_symbol:ADNP2 Unspecified ADNP2 +OMIM:617422 skos:exactMatch UMLS:C1823983 Unspecified ADNP2 +OMIM:617421 skos:exactMatch UMLS:C1825627 Unspecified ITFG2 +OMIM:617421 skos:exactMatch HGNC_symbol:ITFG2 Unspecified ITFG2 +OMIM:617421 skos:exactMatch HGNC:30879 Unspecified ITFG2 +OMIM:617424 skos:exactMatch HGNC_symbol:WDR26 Unspecified WDR26 +OMIM:617424 skos:exactMatch HGNC:21208 Unspecified WDR26 +OMIM:617424 skos:exactMatch UMLS:C1427415 Unspecified WDR26 +OMIM:617423 skos:exactMatch UMLS:C1826718 Unspecified PRR14 +OMIM:617423 skos:exactMatch HGNC_symbol:PRR14 Unspecified PRR14 +OMIM:617423 skos:exactMatch HGNC:28458 Unspecified PRR14 +OMIM:617415 skos:exactMatch HGNC_symbol:RPL31 Unspecified RPL31 +OMIM:617415 skos:exactMatch UMLS:C1419657 Unspecified RPL31 +OMIM:617415 skos:exactMatch HGNC:10334 Unspecified RPL31 +OMIM:617414 skos:exactMatch UMLS:C1419631 Unspecified RPL14 +OMIM:617414 skos:exactMatch HGNC_symbol:RPL14 Unspecified RPL14 +OMIM:617414 skos:exactMatch HGNC:10305 Unspecified RPL14 +OMIM:617417 skos:exactMatch HGNC_symbol:RPL7L1 Unspecified RPL7L1 +OMIM:617417 skos:exactMatch HGNC:21370 Unspecified RPL7L1 +OMIM:617417 skos:exactMatch UMLS:C1427518 Unspecified RPL7L1 +OMIM:617416 skos:exactMatch UMLS:C1419674 Unspecified RPL3L +OMIM:617416 skos:exactMatch HGNC_symbol:RPL3L Unspecified RPL3L +OMIM:617416 skos:exactMatch HGNC:10351 Unspecified RPL3L +OMIM:617419 skos:exactMatch UMLS:C3147747 Unspecified P3H4 +OMIM:617419 skos:exactMatch HGNC_symbol:P3H4 Unspecified P3H4 +OMIM:617419 skos:exactMatch HGNC:16946 Unspecified P3H4 +OMIM:617418 skos:exactMatch HGNC:25706 Unspecified WDR59 +OMIM:617418 skos:exactMatch UMLS:C1538103 Unspecified WDR59 +OMIM:617418 skos:exactMatch HGNC_symbol:WDR59 Unspecified WDR59 +OMIM:605440 skos:exactMatch UMLS:C1540152 Unspecified UBQLN4 +OMIM:605440 skos:exactMatch HGNC:1237 Unspecified UBQLN4 +OMIM:605440 skos:exactMatch HGNC_symbol:UBQLN4 Unspecified UBQLN4 +OMIM:605441 skos:exactMatch UMLS:C1540187 Unspecified ADIPOQ +OMIM:605441 skos:exactMatch HGNC:13633 Unspecified ADIPOQ +OMIM:605441 skos:exactMatch HGNC_symbol:ADIPOQ Unspecified ADIPOQ +OMIM:274300 skos:exactMatch UMLS:C3489796 Unspecified thyroid hormone resistance, generalized, autosomal recessive +OMIM:605444 skos:exactMatch UMLS:C1854268 Unspecified RBMXL2 +OMIM:605444 skos:exactMatch HGNC:17886 Unspecified RBMXL2 +OMIM:605444 skos:exactMatch HGNC_symbol:RBMXL2 Unspecified RBMXL2 +OMIM:605445 skos:exactMatch UMLS:C1854267 Unspecified DLGAP1 +OMIM:605445 skos:exactMatch HGNC_symbol:DLGAP1 Unspecified DLGAP1 +OMIM:605445 skos:exactMatch UMLS:C1414067 Unspecified DLGAP1 +OMIM:605445 skos:exactMatch HGNC:2905 Unspecified DLGAP1 +OMIM:605442 skos:exactMatch HGNC_symbol:WTAP Unspecified WTAP +OMIM:605442 skos:exactMatch HGNC:16846 Unspecified WTAP +OMIM:605442 skos:exactMatch UMLS:C1424590 Unspecified WTAP +OMIM:605443 skos:exactMatch UMLS:C1854269 Unspecified PCGEM1 +OMIM:605443 skos:exactMatch HGNC_symbol:PCGEM1 Unspecified PCGEM1 +OMIM:605443 skos:exactMatch HGNC:30145 Unspecified PCGEM1 +OMIM:617491 skos:exactMatch UMLS:C1538490 Unspecified NSUN3 +OMIM:617491 skos:exactMatch UMLS:C5436602 Unspecified NSUN3 +OMIM:617491 skos:exactMatch HGNC_symbol:NSUN3 Unspecified NSUN3 +OMIM:617491 skos:exactMatch HGNC:26208 Unspecified NSUN3 +OMIM:617490 skos:exactMatch HGNC_symbol:CATSPERD Unspecified CATSPERD +OMIM:617490 skos:exactMatch HGNC:28598 Unspecified CATSPERD +OMIM:617490 skos:exactMatch UMLS:C3469784 Unspecified CATSPERD +OMIM:617493 skos:exactMatch UMLS:C4479569 Unspecified neurodevelopmental disorder with involuntary movements +OMIM:617493 skos:exactMatch ORPHA:1934 Unspecified neurodevelopmental disorder with involuntary movements +OMIM:617492 skos:exactMatch UMLS:C1424809 Unspecified OLFM2 +OMIM:617492 skos:exactMatch HGNC:17189 Unspecified OLFM2 +OMIM:617492 skos:exactMatch HGNC_symbol:OLFM2 Unspecified OLFM2 +OMIM:617495 skos:exactMatch UMLS:C1539390 Unspecified FAM19A1 +OMIM:617495 skos:exactMatch HGNC_symbol:TAFA1 Unspecified FAM19A1 +OMIM:617495 skos:exactMatch HGNC:21587 Unspecified FAM19A1 +OMIM:617494 skos:exactMatch HGNC:18035 Unspecified EML2 +OMIM:617494 skos:exactMatch HGNC_symbol:EML2 Unspecified EML2 +OMIM:617494 skos:exactMatch UMLS:C1425255 Unspecified EML2 +OMIM:617497 skos:exactMatch UMLS:C1539392 Unspecified FAM19A3 +OMIM:617497 skos:exactMatch HGNC_symbol:TAFA3 Unspecified FAM19A3 +OMIM:617497 skos:exactMatch HGNC:21590 Unspecified FAM19A3 +OMIM:617496 skos:exactMatch UMLS:C1539391 Unspecified FAM19A2 +OMIM:617496 skos:exactMatch HGNC_symbol:TAFA2 Unspecified FAM19A2 +OMIM:617496 skos:exactMatch HGNC:21589 Unspecified FAM19A2 +OMIM:617499 skos:exactMatch UMLS:C1539394 Unspecified FAM19A5 +OMIM:617499 skos:exactMatch HGNC_symbol:TAFA5 Unspecified FAM19A5 +OMIM:617499 skos:exactMatch HGNC:21592 Unspecified FAM19A5 +OMIM:617498 skos:exactMatch UMLS:C1539393 Unspecified FAM19A4 +OMIM:617498 skos:exactMatch HGNC_symbol:TAFA4 Unspecified FAM19A4 +OMIM:617498 skos:exactMatch HGNC:21591 Unspecified FAM19A4 +OMIM:276950 skos:exactMatch UMLS:C2749240 Unspecified vacterl association with hydrocephalus +OMIM:276950 skos:exactMatch UMLS:C1848599 Unspecified vacterl association with hydrocephalus +OMIM:276950 skos:exactMatch UMLS:C1848600 Unspecified vacterl association with hydrocephalus +OMIM:308000 skos:exactMatch UMLS:C0268117 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4311004 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4311005 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4311002 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4311003 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4311000 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4311001 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017599 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017598 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017597 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017596 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017595 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017594 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017593 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017592 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017591 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017606 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017605 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017604 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017603 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017602 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017601 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017600 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4017796 Unspecified HPRT1 +OMIM:308000 skos:exactMatch HGNC:5157 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C1845892 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4310996 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4310995 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4310998 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4310997 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4310999 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4310994 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C4310993 Unspecified HPRT1 +OMIM:308000 skos:exactMatch HGNC_symbol:HPRT1 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C0023374 Unspecified HPRT1 +OMIM:308000 skos:exactMatch UMLS:C1415701 Unspecified HPRT1 +OMIM:617480 skos:exactMatch UMLS:C4479552 Unspecified 46,xx sex reversal 4 +OMIM:617482 skos:exactMatch HGNC:30759 Unspecified TP53TG3 +OMIM:617482 skos:exactMatch UMLS:C2680497 Unspecified TP53TG3 +OMIM:617482 skos:exactMatch HGNC_symbol:TP53TG3 Unspecified TP53TG3 +OMIM:617481 skos:exactMatch UMLS:C4479566 Unspecified neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +OMIM:617484 skos:exactMatch HGNC:26565 Unspecified GTSF1 +OMIM:617484 skos:exactMatch UMLS:C1825244 Unspecified GTSF1 +OMIM:617484 skos:exactMatch HGNC_symbol:GTSF1 Unspecified GTSF1 +OMIM:617483 skos:exactMatch HGNC:25013 Unspecified CNIH4 +OMIM:617483 skos:exactMatch UMLS:C1824764 Unspecified CNIH4 +OMIM:617483 skos:exactMatch HGNC_symbol:CNIH4 Unspecified CNIH4 +OMIM:617486 skos:exactMatch UMLS:C1539596 Unspecified GPATCH3 +OMIM:617486 skos:exactMatch HGNC:25720 Unspecified GPATCH3 +OMIM:617486 skos:exactMatch HGNC_symbol:GPATCH3 Unspecified GPATCH3 +OMIM:262300 skos:exactMatch UMLS:C1849792 Unspecified achromatopsia 3 +OMIM:617485 skos:exactMatch HGNC_symbol:WDFY3 Unspecified WDFY3 +OMIM:617485 skos:exactMatch UMLS:C1427109 Unspecified WDFY3 +OMIM:617485 skos:exactMatch HGNC:20751 Unspecified WDFY3 +OMIM:617488 skos:exactMatch HGNC_symbol:RPUSD4 Unspecified RPUSD4 +OMIM:617488 skos:exactMatch UMLS:C1539700 Unspecified RPUSD4 +OMIM:617488 skos:exactMatch HGNC:25898 Unspecified RPUSD4 +OMIM:617487 skos:exactMatch HGNC:25881 Unspecified DNAJB14 +OMIM:617487 skos:exactMatch UMLS:C1824945 Unspecified DNAJB14 +OMIM:617487 skos:exactMatch HGNC_symbol:DNAJB14 Unspecified DNAJB14 +OMIM:617489 skos:exactMatch HGNC_symbol:LINC00305 Unspecified LINC00305 +OMIM:617489 skos:exactMatch UMLS:C3470659 Unspecified LINC00305 +OMIM:617489 skos:exactMatch HGNC:28597 Unspecified LINC00305 +OMIM:617471 skos:exactMatch UMLS:C1539754 Unspecified SERPINA12 +OMIM:617471 skos:exactMatch HGNC:18359 Unspecified SERPINA12 +OMIM:617471 skos:exactMatch HGNC_symbol:SERPINA12 Unspecified SERPINA12 +OMIM:617470 skos:exactMatch HGNC:20294 Unspecified USPL1 +OMIM:617470 skos:exactMatch UMLS:C1823607 Unspecified USPL1 +OMIM:617470 skos:exactMatch HGNC_symbol:USPL1 Unspecified USPL1 +OMIM:617473 skos:exactMatch HGNC:14247 Unspecified ATP5L +OMIM:617473 skos:exactMatch UMLS:C1422508 Unspecified ATP5L +OMIM:617473 skos:exactMatch HGNC_symbol:ATP5MG Unspecified ATP5L +OMIM:249310 skos:exactMatch UMLS:C0796086 Unspecified megalocornea-mental retardation syndrome +OMIM:617472 skos:exactMatch HGNC_symbol:TNN Unspecified TNN +OMIM:617472 skos:exactMatch HGNC:22942 Unspecified TNN +OMIM:617472 skos:exactMatch UMLS:C1427797 Unspecified TNN +OMIM:617475 skos:exactMatch UMLS:C4479548 Unspecified specific granule deficiency 2 +OMIM:617475 skos:exactMatch ORPHA:169142 Unspecified specific granule deficiency 2 +OMIM:617474 skos:exactMatch HGNC:29003 Unspecified ZNF609 +OMIM:617474 skos:exactMatch HGNC_symbol:ZNF609 Unspecified ZNF609 +OMIM:617474 skos:exactMatch UMLS:C1428770 Unspecified ZNF609 +OMIM:617477 skos:exactMatch HGNC:14096 Unspecified ZNF324 +OMIM:617477 skos:exactMatch UMLS:C1422402 Unspecified ZNF324 +OMIM:617477 skos:exactMatch HGNC_symbol:ZNF324 Unspecified ZNF324 +OMIM:617476 skos:exactMatch HGNC_symbol:CNKSR3 Unspecified CNKSR3 +OMIM:617476 skos:exactMatch UMLS:C1539115 Unspecified CNKSR3 +OMIM:617476 skos:exactMatch UMLS:C2681616 Unspecified CNKSR3 +OMIM:617476 skos:exactMatch HGNC:23034 Unspecified CNKSR3 +OMIM:617476 skos:exactMatch UMLS:C4479712 Unspecified CNKSR3 +OMIM:617479 skos:exactMatch HGNC:24809 Unspecified SSUH2 +OMIM:617479 skos:exactMatch HGNC_symbol:SSUH2 Unspecified SSUH2 +OMIM:617479 skos:exactMatch UMLS:C1824128 Unspecified SSUH2 +OMIM:617478 skos:exactMatch UMLS:C4479549 Unspecified structural heart defects and renal anomalies syndrome +OMIM:617469 skos:exactMatch HGNC:16411 Unspecified AFG1L +OMIM:617469 skos:exactMatch UMLS:C1424259 Unspecified AFG1L +OMIM:617469 skos:exactMatch HGNC_symbol:AFG1L Unspecified AFG1L +OMIM:605491 skos:exactMatch UMLS:C1538053 Unspecified NEBL +OMIM:605491 skos:exactMatch HGNC_symbol:NEBL Unspecified NEBL +OMIM:605491 skos:exactMatch HGNC:16932 Unspecified NEBL +OMIM:605492 skos:exactMatch UMLS:C1424631 Unspecified LRRN2 +OMIM:605492 skos:exactMatch HGNC_symbol:LRRN2 Unspecified LRRN2 +OMIM:605492 skos:exactMatch HGNC:16914 Unspecified LRRN2 +OMIM:605490 skos:exactMatch HGNC_symbol:LONP1 Unspecified LONP1 +OMIM:605490 skos:exactMatch UMLS:C1825868 Unspecified LONP1 +OMIM:605490 skos:exactMatch HGNC:9479 Unspecified LONP1 +OMIM:605495 skos:exactMatch UMLS:C1420132 Unspecified SLCO1B3 +OMIM:605495 skos:exactMatch HGNC:10961 Unspecified SLCO1B3 +OMIM:605495 skos:exactMatch HGNC_symbol:SLCO1B3 Unspecified SLCO1B3 +OMIM:250300 skos:exactMatch UMLS:C1855195 Unspecified metaphyseal chondrodysplasia, pena iia +OMIM:605496 skos:exactMatch UMLS:C3274869 Unspecified CEP1 +OMIM:605496 skos:exactMatch HGNC_symbol:CNTRL Unspecified CEP1 +OMIM:605496 skos:exactMatch UMLS:C1824717 Unspecified CEP1 +OMIM:605496 skos:exactMatch HGNC:1858 Unspecified CEP1 +OMIM:605493 skos:exactMatch UMLS:C1419422 Unspecified TRIM3 +OMIM:605493 skos:exactMatch HGNC:10064 Unspecified TRIM3 +OMIM:605493 skos:exactMatch HGNC_symbol:TRIM3 Unspecified TRIM3 +OMIM:605494 skos:exactMatch HGNC:6157 Unspecified ITGB3BP +OMIM:605494 skos:exactMatch UMLS:C1416499 Unspecified ITGB3BP +OMIM:605494 skos:exactMatch HGNC_symbol:ITGB3BP Unspecified ITGB3BP +OMIM:605499 skos:exactMatch UMLS:C1421870 Unspecified zw10 interactor, antisense +OMIM:605497 skos:exactMatch UMLS:C1413720 Unspecified CRTAP +OMIM:605497 skos:exactMatch HGNC:2379 Unspecified CRTAP +OMIM:605497 skos:exactMatch HGNC_symbol:CRTAP Unspecified CRTAP +OMIM:605498 skos:exactMatch HGNC:7212 Unspecified MPHOSPH1 +OMIM:605498 skos:exactMatch HGNC_symbol:KIF20B Unspecified MPHOSPH1 +OMIM:605498 skos:exactMatch UMLS:C1417240 Unspecified MPHOSPH1 +OMIM:605479 skos:exactMatch UMLS:C2608083 Unspecified cholestasis, benign recurrent intrahepatic, 2 +OMIM:617460 skos:exactMatch UMLS:C4479526 Unspecified retinitis pigmentosa 79 +OMIM:617462 skos:exactMatch HGNC_symbol:PPRC1 Unspecified PPRC1 +OMIM:617462 skos:exactMatch HGNC:30025 Unspecified PPRC1 +OMIM:617462 skos:exactMatch UMLS:C1428919 Unspecified PPRC1 +OMIM:617461 skos:exactMatch HGNC_symbol:YBEY Unspecified YBEY +OMIM:617461 skos:exactMatch UMLS:C3147006 Unspecified YBEY +OMIM:617461 skos:exactMatch HGNC:1299 Unspecified YBEY +OMIM:617464 skos:exactMatch UMLS:C1427411 Unspecified UNC5CL +OMIM:617464 skos:exactMatch HGNC_symbol:UNC5CL Unspecified UNC5CL +OMIM:617464 skos:exactMatch HGNC:21203 Unspecified UNC5CL +OMIM:617463 skos:exactMatch HGNC_symbol:UNKL Unspecified UNKL +OMIM:617463 skos:exactMatch HGNC:14184 Unspecified UNKL +OMIM:617463 skos:exactMatch UMLS:C1422471 Unspecified UNKL +OMIM:617466 skos:exactMatch UMLS:C4479534 Unspecified townes-brocks syndrome 2 +OMIM:130500 skos:exactMatch HGNC_symbol:EPB41 Unspecified EPB41 +OMIM:130500 skos:exactMatch HGNC:3377 Unspecified EPB41 +OMIM:130500 skos:exactMatch UMLS:C1414422 Unspecified EPB41 +OMIM:617465 skos:exactMatch HGNC_symbol:SMIM20 Unspecified SMIM20 +OMIM:617465 skos:exactMatch HGNC:37260 Unspecified SMIM20 +OMIM:617465 skos:exactMatch UMLS:C3542069 Unspecified SMIM20 +OMIM:617468 skos:exactMatch ORPHA:2680 Unspecified arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +OMIM:617468 skos:exactMatch UMLS:C4479539 Unspecified arthrogryposis multiplex congenita 1, neurogenic, with myelin defect +OMIM:617467 skos:exactMatch UMLS:C1539534 Unspecified FRMD4B +OMIM:617467 skos:exactMatch HGNC:24886 Unspecified FRMD4B +OMIM:617467 skos:exactMatch HGNC_symbol:FRMD4B Unspecified FRMD4B +OMIM:617459 skos:exactMatch HGNC:29199 Unspecified TMCC3 +OMIM:617459 skos:exactMatch HGNC_symbol:TMCC3 Unspecified TMCC3 +OMIM:617459 skos:exactMatch UMLS:C1539982 Unspecified TMCC3 +OMIM:617458 skos:exactMatch HGNC_symbol:PRKRIP1 Unspecified PRKRIP1 +OMIM:617458 skos:exactMatch HGNC:21894 Unspecified PRKRIP1 +OMIM:617458 skos:exactMatch UMLS:C1427746 Unspecified PRKRIP1 +OMIM:605480 skos:exactMatch UMLS:C1854235 Unspecified systemic lupus erythematosus, susceptibility to, 3 +OMIM:605481 skos:exactMatch UMLS:C1425978 Unspecified ASPM +OMIM:605481 skos:exactMatch HGNC:19048 Unspecified ASPM +OMIM:605481 skos:exactMatch HGNC_symbol:ASPM Unspecified ASPM +OMIM:605484 skos:exactMatch HGNC_symbol:FCAMR Unspecified FCAMR +OMIM:605484 skos:exactMatch HGNC:24692 Unspecified FCAMR +OMIM:605484 skos:exactMatch UMLS:C1825285 Unspecified FCAMR +OMIM:605485 skos:exactMatch HGNC:12713 Unspecified VPS41 +OMIM:605485 skos:exactMatch UMLS:C1421466 Unspecified VPS41 +OMIM:605485 skos:exactMatch HGNC_symbol:VPS41 Unspecified VPS41 +OMIM:605482 skos:exactMatch HGNC:13312 Unspecified GSTO1 +OMIM:605482 skos:exactMatch UMLS:C1421933 Unspecified GSTO1 +OMIM:605482 skos:exactMatch HGNC_symbol:GSTO1 Unspecified GSTO1 +OMIM:605483 skos:exactMatch HGNC_symbol:DNAI2 Unspecified DNAI2 +OMIM:605483 skos:exactMatch UMLS:C1425753 Unspecified DNAI2 +OMIM:605483 skos:exactMatch HGNC:18744 Unspecified DNAI2 +OMIM:605488 skos:exactMatch HGNC:16968 Unspecified ARPP21 +OMIM:605488 skos:exactMatch UMLS:C2699119 Unspecified ARPP21 +OMIM:605488 skos:exactMatch HGNC_symbol:ARPP21 Unspecified ARPP21 +OMIM:605489 skos:exactMatch HGNC_symbol:IFT81 Unspecified IFT81 +OMIM:605489 skos:exactMatch HGNC:14313 Unspecified IFT81 +OMIM:605489 skos:exactMatch UMLS:C1825571 Unspecified IFT81 +OMIM:605487 skos:exactMatch HGNC:16967 Unspecified ARPP19 +OMIM:605487 skos:exactMatch UMLS:C1854225 Unspecified ARPP19 +OMIM:605487 skos:exactMatch HGNC_symbol:ARPP19 Unspecified ARPP19 +OMIM:225320 skos:exactMatch UMLS:C4303789 Unspecified ehlers-danlos syndrome, cardiac valvular iia +OMIM:252940 skos:exactMatch UMLS:C0086650 Unspecified mucopolysaccharidosis, iia 3d +OMIM:252940 skos:exactMatch ORPHA:581 Unspecified mucopolysaccharidosis, iia 3d +OMIM:252940 skos:exactMatch ORPHA:79272 Unspecified mucopolysaccharidosis, iia 3d +OMIM:237300 skos:exactMatch UMLS:C4082171 Unspecified carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to +OMIM:276904 skos:exactMatch UMLS:C1848604 Unspecified usher syndrome, iia 1c +OMIM:276904 skos:exactMatch ORPHA:231169 Unspecified usher syndrome, iia 1c +OMIM:276904 skos:exactMatch ORPHA:886 Unspecified usher syndrome, iia 1c +OMIM:276903 skos:exactMatch HGNC_symbol:MYO7A Unspecified MYO7A +OMIM:276903 skos:exactMatch HGNC:7606 Unspecified MYO7A +OMIM:276903 skos:exactMatch UMLS:C1417569 Unspecified MYO7A +OMIM:225310 skos:exactMatch UMLS:C1857038 Unspecified ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality +OMIM:249300 skos:exactMatch UMLS:C0344530 Unspecified megalocornea +OMIM:142500 skos:exactMatch UMLS:C0423318 Unspecified heterochromia iridis +OMIM:276900 skos:exactMatch UMLS:C1848638 Unspecified usher syndrome, iia 1 +OMIM:276900 skos:exactMatch UMLS:C1848639 Unspecified usher syndrome, iia 1 +OMIM:276900 skos:exactMatch UMLS:C1848640 Unspecified usher syndrome, iia 1 +OMIM:276900 skos:exactMatch UMLS:C1568247 Unspecified usher syndrome, iia 1 +OMIM:276902 skos:exactMatch UMLS:C1568248 Unspecified usher syndrome, iia 3a +OMIM:276901 skos:exactMatch UMLS:C1848634 Unspecified usher syndrome, iia 2a +OMIM:276901 skos:exactMatch ORPHA:231178 Unspecified usher syndrome, iia 2a +OMIM:276901 skos:exactMatch ORPHA:886 Unspecified usher syndrome, iia 2a +OMIM:252920 skos:exactMatch UMLS:C0086648 Unspecified mucopolysaccharidosis, iia 3b +OMIM:252920 skos:exactMatch ORPHA:581 Unspecified mucopolysaccharidosis, iia 3b +OMIM:252920 skos:exactMatch ORPHA:79270 Unspecified mucopolysaccharidosis, iia 3b +OMIM:264900 skos:exactMatch HGNC:3529 Unspecified F11 +OMIM:264900 skos:exactMatch HGNC_symbol:F11 Unspecified F11 +OMIM:264900 skos:exactMatch UMLS:C1414498 Unspecified F11 +OMIM:240950 skos:exactMatch UMLS:C1855859 Unspecified hypogonadism-cataract syndrome +OMIM:154500 skos:exactMatch ORPHA:861 Unspecified treacher collins syndrome 1 +OMIM:154500 skos:exactMatch UMLS:C0242387 Unspecified treacher collins syndrome 1 +OMIM:237310 skos:exactMatch UMLS:C0268543 Unspecified n-acetylglutamate synthase deficiency +OMIM:252930 skos:exactMatch UMLS:C0086649 Unspecified mucopolysaccharidosis, iia 3c +OMIM:252930 skos:exactMatch ORPHA:581 Unspecified mucopolysaccharidosis, iia 3c +OMIM:252930 skos:exactMatch ORPHA:79271 Unspecified mucopolysaccharidosis, iia 3c +OMIM:201310 skos:exactMatch UMLS:C0796290 Unspecified acrorenal syndrome, autosomal recessive +OMIM:252900 skos:exactMatch ORPHA:581 Unspecified mucopolysaccharidosis, iia 3a +OMIM:252900 skos:exactMatch ORPHA:79269 Unspecified mucopolysaccharidosis, iia 3a +OMIM:252900 skos:exactMatch UMLS:C0086647 Unspecified mucopolysaccharidosis, iia 3a +OMIM:213300 skos:exactMatch ORPHA:475 Unspecified joubert syndrome 1 +OMIM:213300 skos:exactMatch UMLS:C0431399 Unspecified joubert syndrome 1 +OMIM:213300 skos:exactMatch UMLS:C4551568 Unspecified joubert syndrome 1 +OMIM:225300 skos:exactMatch UMLS:C2749665 Unspecified split-hand/foot malformation 6 +OMIM:240900 skos:exactMatch UMLS:C3278384 Unspecified hypoinsulinemic hypoglycemia with hemihypertrophy +OMIM:178500 skos:exactMatch UMLS:C1800706 Unspecified interstitial lung disease 2 +OMIM:178500 skos:exactMatch UMLS:C4721509 Unspecified interstitial lung disease 2 +OMIM:178500 skos:exactMatch UMLS:C4721508 Unspecified interstitial lung disease 2 +OMIM:129490 skos:exactMatch UMLS:C3888065 Unspecified ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant +OMIM:154545 skos:exactMatch HGNC_symbol:MBL2 Unspecified MBL2 +OMIM:154545 skos:exactMatch HGNC:6922 Unspecified MBL2 +OMIM:154545 skos:exactMatch UMLS:C1417054 Unspecified MBL2 +OMIM:142560 skos:exactMatch HGNC_symbol:DDX39B Unspecified DDX39B +OMIM:142560 skos:exactMatch HGNC:13917 Unspecified DDX39B +OMIM:142560 skos:exactMatch UMLS:C1422269 Unspecified DDX39B +OMIM:154540 skos:exactMatch UMLS:C1416952 Unspecified M6PR +OMIM:154540 skos:exactMatch HGNC_symbol:M6PR Unspecified M6PR +OMIM:154540 skos:exactMatch HGNC:6752 Unspecified M6PR +OMIM:178400 skos:exactMatch UMLS:C0340552 Unspecified pulmonary edema of mountaineers, susceptibility to +OMIM:142460 skos:exactMatch UMLS:C1419892 Unspecified SDC2 +OMIM:142460 skos:exactMatch HGNC:10659 Unspecified SDC2 +OMIM:142460 skos:exactMatch HGNC_symbol:SDC2 Unspecified SDC2 +OMIM:142461 skos:exactMatch HGNC_symbol:HSPG2 Unspecified HSPG2 +OMIM:142461 skos:exactMatch UMLS:C4551479 Unspecified HSPG2 +OMIM:142461 skos:exactMatch UMLS:C1857100 Unspecified HSPG2 +OMIM:142461 skos:exactMatch HGNC:5273 Unspecified HSPG2 +OMIM:142461 skos:exactMatch UMLS:C1415793 Unspecified HSPG2 +OMIM:142470 skos:exactMatch UMLS:C1840598 Unspecified fetal hemoglobin quantitative trait locus 2 +OMIM:239900 skos:exactMatch UMLS:C1855885 Unspecified hypertrophic neuropathy and cataract +OMIM:201300 skos:exactMatch UMLS:C2752089 Unspecified neuropathy, hereditary sensory and autonomic, iia 2a +OMIM:105590 skos:exactMatch UMLS:C3151474 Unspecified ALK +OMIM:105590 skos:exactMatch UMLS:C3151473 Unspecified ALK +OMIM:105590 skos:exactMatch UMLS:C3151472 Unspecified ALK +OMIM:105590 skos:exactMatch HGNC:427 Unspecified ALK +OMIM:105590 skos:exactMatch HGNC_symbol:ALK Unspecified ALK +OMIM:105590 skos:exactMatch UMLS:C1332080 Unspecified ALK +OMIM:191420 skos:exactMatch UMLS:C1860615 Unspecified ulna metaphyseal dysplasia syndrome +OMIM:129550 skos:exactMatch UMLS:C1851850 Unspecified ectodermal dysplasia with adrenal cyst +OMIM:166450 skos:exactMatch UMLS:C0432264 Unspecified osteomesopyknosis +OMIM:105570 skos:exactMatch UMLS:C1862934 Unspecified androstenone, ability to smell +OMIM:191400 skos:exactMatch UMLS:C1860616 Unspecified ulna and fibula, hypoplasia of +OMIM:129540 skos:exactMatch UMLS:C1851851 Unspecified ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet +OMIM:166490 skos:exactMatch HGNC_symbol:SPP1 Unspecified SPP1 +OMIM:166490 skos:exactMatch HGNC:11255 Unspecified SPP1 +OMIM:166490 skos:exactMatch UMLS:C1420369 Unspecified SPP1 +OMIM:105563 skos:exactMatch UMLS:C1862936 Unspecified anal sphincter dysplasia +OMIM:105565 skos:exactMatch UMLS:C1862935 Unspecified anal sphincter myopathy, internal +OMIM:105580 skos:exactMatch UMLS:C0563211 Unspecified anal canal carcinoma +OMIM:105580 skos:exactMatch UMLS:C0334273 Unspecified anal canal carcinoma +OMIM:117550 skos:exactMatch UMLS:C4551477 Unspecified sotos syndrome +OMIM:117550 skos:exactMatch UMLS:C0175695 Unspecified sotos syndrome +OMIM:117550 skos:exactMatch ORPHA:821 Unspecified sotos syndrome +OMIM:105550 skos:exactMatch ORPHA:275872 Unspecified frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +OMIM:105550 skos:exactMatch UMLS:C3888102 Unspecified frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +OMIM:129510 skos:exactMatch UMLS:C1851858 Unspecified ectodermal dysplasia, trichoodontoonychial iia +OMIM:308050 skos:exactMatch ORPHA:139 Unspecified congenital hemidysplasia with ichthyosiform erythroderma and limb defects +OMIM:308050 skos:exactMatch UMLS:C0265267 Unspecified congenital hemidysplasia with ichthyosiform erythroderma and limb defects +OMIM:129500 skos:exactMatch UMLS:C0162361 Unspecified clouston syndrome +OMIM:274270 skos:exactMatch UMLS:C1959620 Unspecified dihydropyrimidine dehydrogenase deficiency +OMIM:274270 skos:exactMatch UMLS:C0274576 Unspecified dihydropyrimidine dehydrogenase deficiency +OMIM:191440 skos:exactMatch UMLS:C1860614 Unspecified ulnar hypoplasia +OMIM:274265 skos:exactMatch UMLS:C1848812 Unspecified thymic-renal-anal-lung dysplasia +OMIM:605426 skos:exactMatch HGNC_symbol:TP53AIP1 Unspecified TP53AIP1 +OMIM:605426 skos:exactMatch UMLS:C1854276 Unspecified TP53AIP1 +OMIM:605426 skos:exactMatch HGNC:29984 Unspecified TP53AIP1 +OMIM:605427 skos:exactMatch HGNC:18083 Unspecified TRPV4 +OMIM:605427 skos:exactMatch HGNC_symbol:TRPV4 Unspecified TRPV4 +OMIM:605427 skos:exactMatch UMLS:C1425291 Unspecified TRPV4 +OMIM:605424 skos:exactMatch HGNC:13632 Unspecified MAML1 +OMIM:605424 skos:exactMatch UMLS:C1422120 Unspecified MAML1 +OMIM:605424 skos:exactMatch HGNC_symbol:MAML1 Unspecified MAML1 +OMIM:605425 skos:exactMatch HGNC:4286 Unspecified GJB4 +OMIM:605425 skos:exactMatch HGNC_symbol:GJB4 Unspecified GJB4 +OMIM:605425 skos:exactMatch UMLS:C1415079 Unspecified GJB4 +OMIM:605428 skos:exactMatch UMLS:C1854275 Unspecified deafness, autosomal recessive 26 +OMIM:605429 skos:exactMatch UMLS:C1854274 Unspecified deafness, autosomal recessive 26, modifier of +OMIM:617411 skos:exactMatch HGNC:21213 Unspecified ARFGEF3 +OMIM:617411 skos:exactMatch UMLS:C1427420 Unspecified ARFGEF3 +OMIM:617411 skos:exactMatch HGNC_symbol:ARFGEF3 Unspecified ARFGEF3 +OMIM:617410 skos:exactMatch UMLS:C1427057 Unspecified ZNF419 +OMIM:617410 skos:exactMatch HGNC_symbol:ZNF419 Unspecified ZNF419 +OMIM:617410 skos:exactMatch HGNC:20648 Unspecified ZNF419 +OMIM:617413 skos:exactMatch UMLS:C1538733 Unspecified PRUNE1 +OMIM:617413 skos:exactMatch HGNC_symbol:PRUNE1 Unspecified PRUNE1 +OMIM:617413 skos:exactMatch HGNC:13420 Unspecified PRUNE1 +OMIM:617412 skos:exactMatch UMLS:C4479431 Unspecified brachycephaly, trichomegaly, and developmental delay +OMIM:617404 skos:exactMatch UMLS:C4479410 Unspecified muscular dystrophy, congenital, with cataracts and intellectual disability +OMIM:617403 skos:exactMatch UMLS:C4479409 Unspecified cutis laxa, autosomal recessive, iia 2d +OMIM:617403 skos:exactMatch ORPHA:357074 Unspecified cutis laxa, autosomal recessive, iia 2d +OMIM:617406 skos:exactMatch UMLS:C4319932 Unspecified bardet-biedl syndrome 21 +OMIM:617405 skos:exactMatch UMLS:C4479416 Unspecified short-rib thoracic dysplasia 17 with or without polydactyly +OMIM:617408 skos:exactMatch UMLS:C4479424 Unspecified diamond-blackfan anemia 16 +OMIM:617407 skos:exactMatch HGNC_symbol:PCGF5 Unspecified PCGF5 +OMIM:617407 skos:exactMatch UMLS:C1538601 Unspecified PCGF5 +OMIM:617407 skos:exactMatch HGNC:28264 Unspecified PCGF5 +OMIM:617409 skos:exactMatch UMLS:C4479428 Unspecified diamond-blackfan anemia 17 +OMIM:605430 skos:exactMatch UMLS:C1422725 Unspecified SPAG9 +OMIM:605430 skos:exactMatch HGNC:14524 Unspecified SPAG9 +OMIM:605430 skos:exactMatch HGNC_symbol:SPAG9 Unspecified SPAG9 +OMIM:605433 skos:exactMatch UMLS:C1422761 Unspecified KIF13A +OMIM:605433 skos:exactMatch HGNC:14566 Unspecified KIF13A +OMIM:605433 skos:exactMatch HGNC_symbol:KIF13A Unspecified KIF13A +OMIM:105500 skos:exactMatch UMLS:C0543859 Unspecified amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 +OMIM:605434 skos:exactMatch HGNC_symbol:CLSPN Unspecified CLSPN +OMIM:605434 skos:exactMatch HGNC:19715 Unspecified CLSPN +OMIM:605434 skos:exactMatch UMLS:C1426354 Unspecified CLSPN +OMIM:605431 skos:exactMatch UMLS:C1417026 Unspecified MAPK8IP3 +OMIM:605431 skos:exactMatch HGNC_symbol:MAPK8IP3 Unspecified MAPK8IP3 +OMIM:605431 skos:exactMatch HGNC:6884 Unspecified MAPK8IP3 +OMIM:605432 skos:exactMatch UMLS:C1854273 Unspecified radioulnar synostosis with amegakaryocytic thrombocytopenia 1 +OMIM:605432 skos:exactMatch UMLS:C4551975 Unspecified radioulnar synostosis with amegakaryocytic thrombocytopenia 1 +OMIM:605415 skos:exactMatch UMLS:C1414058 Unspecified DKK2 +OMIM:605415 skos:exactMatch HGNC:2892 Unspecified DKK2 +OMIM:605415 skos:exactMatch HGNC_symbol:DKK2 Unspecified DKK2 +OMIM:605416 skos:exactMatch UMLS:C1414059 Unspecified DKK3 +OMIM:605416 skos:exactMatch HGNC:2893 Unspecified DKK3 +OMIM:605416 skos:exactMatch HGNC_symbol:DKK3 Unspecified DKK3 +OMIM:605413 skos:exactMatch UMLS:C1419226 Unspecified RABL2B +OMIM:605413 skos:exactMatch HGNC_symbol:RABL2B Unspecified RABL2B +OMIM:605413 skos:exactMatch HGNC:9800 Unspecified RABL2B +OMIM:605414 skos:exactMatch HGNC_symbol:ABCA7 Unspecified ABCA7 +OMIM:605414 skos:exactMatch HGNC:37 Unspecified ABCA7 +OMIM:605414 skos:exactMatch UMLS:C1412066 Unspecified ABCA7 +OMIM:605419 skos:exactMatch UMLS:C0543918 Unspecified schizophrenia 10 +OMIM:605417 skos:exactMatch UMLS:C1414060 Unspecified DKK4 +OMIM:605417 skos:exactMatch HGNC:2894 Unspecified DKK4 +OMIM:605417 skos:exactMatch HGNC_symbol:DKK4 Unspecified DKK4 +OMIM:605418 skos:exactMatch UMLS:C1539292 Unspecified DKKL1 +OMIM:605418 skos:exactMatch HGNC_symbol:DKKL1 Unspecified DKKL1 +OMIM:605418 skos:exactMatch HGNC:16528 Unspecified DKKL1 +OMIM:617400 skos:exactMatch HGNC_symbol:EPHX3 Unspecified EPHX3 +OMIM:617400 skos:exactMatch HGNC:23760 Unspecified EPHX3 +OMIM:617400 skos:exactMatch UMLS:C1428244 Unspecified EPHX3 +OMIM:617402 skos:exactMatch UMLS:C4479387 Unspecified cutis laxa, autosomal recessive, iia 2c +OMIM:617402 skos:exactMatch ORPHA:357074 Unspecified cutis laxa, autosomal recessive, iia 2c +OMIM:617401 skos:exactMatch HGNC_symbol:EPHX4 Unspecified EPHX4 +OMIM:617401 skos:exactMatch HGNC:23758 Unspecified EPHX4 +OMIM:617401 skos:exactMatch UMLS:C1428242 Unspecified EPHX4 +OMIM:274240 skos:exactMatch UMLS:C1848813 Unspecified thyrocerebroretinal syndrome +OMIM:605422 skos:exactMatch HGNC_symbol:ZNF350 Unspecified ZNF350 +OMIM:605422 skos:exactMatch HGNC:16656 Unspecified ZNF350 +OMIM:605422 skos:exactMatch UMLS:C1424471 Unspecified ZNF350 +OMIM:605423 skos:exactMatch UMLS:C1856273 Unspecified DHH +OMIM:605423 skos:exactMatch UMLS:C5436061 Unspecified DHH +OMIM:605423 skos:exactMatch UMLS:C1414044 Unspecified DHH +OMIM:605423 skos:exactMatch HGNC:2865 Unspecified DHH +OMIM:605423 skos:exactMatch HGNC_symbol:DHH Unspecified DHH +OMIM:605420 skos:exactMatch UMLS:C3150703 Unspecified ALX4 +OMIM:605420 skos:exactMatch UMLS:C1865044 Unspecified ALX4 +OMIM:605420 skos:exactMatch HGNC:450 Unspecified ALX4 +OMIM:605420 skos:exactMatch UMLS:C3809819 Unspecified ALX4 +OMIM:605420 skos:exactMatch UMLS:C1412373 Unspecified ALX4 +OMIM:605420 skos:exactMatch HGNC_symbol:ALX4 Unspecified ALX4 +OMIM:605421 skos:exactMatch HGNC_symbol:ADAMTS9 Unspecified ADAMTS9 +OMIM:605421 skos:exactMatch HGNC:13202 Unspecified ADAMTS9 +OMIM:605421 skos:exactMatch UMLS:C1332020 Unspecified ADAMTS9 +OMIM:605404 skos:exactMatch UMLS:C1412813 Unspecified BOK +OMIM:605404 skos:exactMatch HGNC:1087 Unspecified BOK +OMIM:605404 skos:exactMatch HGNC_symbol:BOK Unspecified BOK +OMIM:605405 skos:exactMatch HGNC:16858 Unspecified USP6NL +OMIM:605405 skos:exactMatch HGNC_symbol:USP6NL Unspecified USP6NL +OMIM:605405 skos:exactMatch UMLS:C1424599 Unspecified USP6NL +OMIM:605402 skos:exactMatch HGNC_symbol:CD274 Unspecified CD274 +OMIM:605402 skos:exactMatch UMLS:C1540292 Unspecified CD274 +OMIM:605402 skos:exactMatch HGNC:17635 Unspecified CD274 +OMIM:605403 skos:exactMatch HGNC_symbol:TLR6 Unspecified TLR6 +OMIM:605403 skos:exactMatch UMLS:C1336638 Unspecified TLR6 +OMIM:605403 skos:exactMatch HGNC:16711 Unspecified TLR6 +OMIM:605409 skos:exactMatch HGNC_symbol:TCERG1 Unspecified TCERG1 +OMIM:605409 skos:exactMatch HGNC:15630 Unspecified TCERG1 +OMIM:605409 skos:exactMatch UMLS:C1423632 Unspecified TCERG1 +OMIM:605406 skos:exactMatch HGNC:16998 Unspecified TMED10 +OMIM:605406 skos:exactMatch HGNC_symbol:TMED10 Unspecified TMED10 +OMIM:605406 skos:exactMatch UMLS:C1823301 Unspecified TMED10 +OMIM:605407 skos:exactMatch UMLS:C2673535 Unspecified segawa syndrome, autosomal recessive +OMIM:274230 skos:exactMatch UMLS:C1848814 Unspecified thymoma, familial +OMIM:605411 skos:exactMatch HGNC:6239 Unspecified KCND3 +OMIM:605411 skos:exactMatch UMLS:C1416562 Unspecified KCND3 +OMIM:605411 skos:exactMatch HGNC_symbol:KCND3 Unspecified KCND3 +OMIM:191482 skos:exactMatch UMLS:C1860605 Unspecified uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly +OMIM:605412 skos:exactMatch UMLS:C1419225 Unspecified RABL2A +OMIM:605412 skos:exactMatch HGNC_symbol:RABL2A Unspecified RABL2A +OMIM:605412 skos:exactMatch HGNC:9799 Unspecified RABL2A +OMIM:191480 skos:exactMatch UMLS:C0432347 Unspecified uncombable hair syndrome 1 +OMIM:191480 skos:exactMatch UMLS:C4551573 Unspecified uncombable hair syndrome 1 +OMIM:605410 skos:exactMatch UMLS:C1416561 Unspecified KCND2 +OMIM:605410 skos:exactMatch HGNC_symbol:KCND2 Unspecified KCND2 +OMIM:605410 skos:exactMatch UMLS:C2986382 Unspecified KCND2 +OMIM:605410 skos:exactMatch HGNC:6238 Unspecified KCND2 +OMIM:520000 skos:exactMatch UMLS:C0342289 Unspecified diabetes and deafness, maternally inherited +OMIM:276880 skos:exactMatch UMLS:C0268514 Unspecified urocanase deficiency +OMIM:605400 skos:exactMatch UMLS:C1854306 Unspecified fibromatosis, gingival, with hypertrichosis and mental retardation +OMIM:605401 skos:exactMatch HGNC:6111 Unspecified IQGAP2 +OMIM:605401 skos:exactMatch HGNC_symbol:IQGAP2 Unspecified IQGAP2 +OMIM:605401 skos:exactMatch UMLS:C1416472 Unspecified IQGAP2 +OMIM:605589 skos:exactMatch UMLS:C1854150 Unspecified charcot-marie-tooth disease, axonal, iia 2b2 +OMIM:605589 skos:exactMatch ORPHA:101101 Unspecified charcot-marie-tooth disease, axonal, iia 2b2 +OMIM:617570 skos:exactMatch HGNC:26551 Unspecified DZIP1L +OMIM:617570 skos:exactMatch HGNC_symbol:DZIP1L Unspecified DZIP1L +OMIM:617570 skos:exactMatch UMLS:C1539324 Unspecified DZIP1L +OMIM:617572 skos:exactMatch UMLS:C4539767 Unspecified exudative vitreoretinopathy 7 +OMIM:617571 skos:exactMatch UMLS:C4539754 Unspecified ichthyosis, congenital, autosomal recessive 14 +OMIM:617574 skos:exactMatch UMLS:C4539772 Unspecified ichthyosis, congenital, autosomal recessive 13 +OMIM:617573 skos:exactMatch HGNC_symbol:CLEC12B Unspecified CLEC12B +OMIM:617573 skos:exactMatch UMLS:C2239303 Unspecified CLEC12B +OMIM:617573 skos:exactMatch HGNC:31966 Unspecified CLEC12B +OMIM:617576 skos:exactMatch UMLS:C4539783 Unspecified spermatogenic failure 18 +OMIM:617575 skos:exactMatch UMLS:C4540559 Unspecified nephrotic syndrome, iia 14 +OMIM:617578 skos:exactMatch HGNC:16660 Unspecified FERD3L +OMIM:617578 skos:exactMatch UMLS:C1424474 Unspecified FERD3L +OMIM:617578 skos:exactMatch HGNC_symbol:FERD3L Unspecified FERD3L +OMIM:617577 skos:exactMatch UMLS:C4539798 Unspecified ciliary dyskinesia, primary, 37 +OMIM:191181 skos:exactMatch UMLS:C1860658 Unspecified suppressor of tumorigenicity 3 +OMIM:617569 skos:exactMatch UMLS:C1537483 Unspecified KIF15 +OMIM:617569 skos:exactMatch HGNC:17273 Unspecified KIF15 +OMIM:617569 skos:exactMatch HGNC_symbol:KIF15 Unspecified KIF15 +OMIM:225050 skos:exactMatch UMLS:C1857052 Unspecified ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia +OMIM:617568 skos:exactMatch UMLS:C4085399 Unspecified USF3 +OMIM:617568 skos:exactMatch HGNC_symbol:USF3 Unspecified USF3 +OMIM:617568 skos:exactMatch HGNC:30494 Unspecified USF3 +OMIM:605590 skos:exactMatch HGNC_symbol:SF3B1 Unspecified SF3B1 +OMIM:605590 skos:exactMatch UMLS:C1419980 Unspecified SF3B1 +OMIM:605590 skos:exactMatch HGNC:10768 Unspecified SF3B1 +OMIM:605591 skos:exactMatch HGNC_symbol:SF3B2 Unspecified SF3B2 +OMIM:605591 skos:exactMatch UMLS:C1419981 Unspecified SF3B2 +OMIM:605591 skos:exactMatch HGNC:10769 Unspecified SF3B2 +OMIM:605594 skos:exactMatch UMLS:C1854146 Unspecified deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +OMIM:605595 skos:exactMatch HGNC_symbol:SF3A1 Unspecified SF3A1 +OMIM:605595 skos:exactMatch UMLS:C1419977 Unspecified SF3A1 +OMIM:605595 skos:exactMatch HGNC:10765 Unspecified SF3A1 +OMIM:605592 skos:exactMatch HGNC_symbol:SF3B3 Unspecified SF3B3 +OMIM:605592 skos:exactMatch UMLS:C1419982 Unspecified SF3B3 +OMIM:605592 skos:exactMatch HGNC:10770 Unspecified SF3B3 +OMIM:605593 skos:exactMatch HGNC_symbol:SF3B4 Unspecified SF3B4 +OMIM:605593 skos:exactMatch UMLS:C1419983 Unspecified SF3B4 +OMIM:605593 skos:exactMatch HGNC:10771 Unspecified SF3B4 +OMIM:605598 skos:exactMatch UMLS:C1854125 Unspecified iia 1 diabetes mellitus 18 +OMIM:605599 skos:exactMatch UMLS:C1416943 Unspecified LYPLA1 +OMIM:605599 skos:exactMatch HGNC_symbol:LYPLA1 Unspecified LYPLA1 +OMIM:605599 skos:exactMatch HGNC:6737 Unspecified LYPLA1 +OMIM:605596 skos:exactMatch HGNC_symbol:SF3A3 Unspecified SF3A3 +OMIM:605596 skos:exactMatch UMLS:C1419979 Unspecified SF3A3 +OMIM:605596 skos:exactMatch HGNC:10767 Unspecified SF3A3 +OMIM:605597 skos:exactMatch HGNC:1092 Unspecified FOXL2 +OMIM:605597 skos:exactMatch HGNC_symbol:FOXL2 Unspecified FOXL2 +OMIM:605597 skos:exactMatch UMLS:C1412815 Unspecified FOXL2 +OMIM:605578 skos:exactMatch UMLS:C1415897 Unspecified IFITM2 +OMIM:605578 skos:exactMatch HGNC_symbol:IFITM2 Unspecified IFITM2 +OMIM:605578 skos:exactMatch HGNC:5413 Unspecified IFITM2 +OMIM:605579 skos:exactMatch UMLS:C1415898 Unspecified IFITM3 +OMIM:605579 skos:exactMatch HGNC_symbol:IFITM3 Unspecified IFITM3 +OMIM:605579 skos:exactMatch HGNC:5414 Unspecified IFITM3 +OMIM:617561 skos:exactMatch ORPHA:3447 Unspecified cohen-gibson syndrome +OMIM:617561 skos:exactMatch UMLS:C4479654 Unspecified cohen-gibson syndrome +OMIM:617560 skos:exactMatch UMLS:C4479653 Unspecified spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy +OMIM:617563 skos:exactMatch UMLS:C4539729 Unspecified orofaciodigital syndrome 16 +OMIM:617562 skos:exactMatch UMLS:C4539715 Unspecified meckel syndrome 13 +OMIM:617562 skos:exactMatch UMLS:C4539714 Unspecified meckel syndrome 13 +OMIM:617565 skos:exactMatch ORPHA:2855 Unspecified perrault syndrome 6 +OMIM:617565 skos:exactMatch UMLS:C4479656 Unspecified perrault syndrome 6 +OMIM:617564 skos:exactMatch UMLS:C4479655 Unspecified meier-gorlin syndrome 8 +OMIM:617567 skos:exactMatch HGNC:23382 Unspecified TPD52L3 +OMIM:617567 skos:exactMatch UMLS:C1823467 Unspecified TPD52L3 +OMIM:617567 skos:exactMatch HGNC_symbol:TPD52L3 Unspecified TPD52L3 +OMIM:617566 skos:exactMatch UMLS:C1428479 Unspecified ZNF568 +OMIM:617566 skos:exactMatch HGNC_symbol:ZNF568 Unspecified ZNF568 +OMIM:617566 skos:exactMatch HGNC:25392 Unspecified ZNF568 +OMIM:617558 skos:exactMatch UMLS:C5231392 Unspecified CFAP43 +OMIM:617558 skos:exactMatch UMLS:C1538396 Unspecified CFAP43 +OMIM:617558 skos:exactMatch UMLS:C4539818 Unspecified CFAP43 +OMIM:617558 skos:exactMatch HGNC_symbol:CFAP43 Unspecified CFAP43 +OMIM:617558 skos:exactMatch HGNC:26684 Unspecified CFAP43 +OMIM:617557 skos:exactMatch UMLS:C4479652 Unspecified gabriele-de vries syndrome +OMIM:191190 skos:exactMatch HGNC:11916 Unspecified TNFRSF1A +OMIM:191190 skos:exactMatch UMLS:C1275126 Unspecified TNFRSF1A +OMIM:191190 skos:exactMatch UMLS:C3553728 Unspecified TNFRSF1A +OMIM:191190 skos:exactMatch HGNC_symbol:TNFRSF1A Unspecified TNFRSF1A +OMIM:191190 skos:exactMatch UMLS:C1363984 Unspecified TNFRSF1A +OMIM:617559 skos:exactMatch UMLS:C1538097 Unspecified CFAP44 +OMIM:617559 skos:exactMatch HGNC:25631 Unspecified CFAP44 +OMIM:617559 skos:exactMatch HGNC_symbol:CFAP44 Unspecified CFAP44 +OMIM:191191 skos:exactMatch HGNC:11917 Unspecified TNFRSF1B +OMIM:191191 skos:exactMatch HGNC_symbol:TNFRSF1B Unspecified TNFRSF1B +OMIM:191191 skos:exactMatch UMLS:C1363982 Unspecified TNFRSF1B +OMIM:605580 skos:exactMatch HGNC:15488 Unspecified IL23A +OMIM:605580 skos:exactMatch HGNC_symbol:IL23A Unspecified IL23A +OMIM:605580 skos:exactMatch UMLS:C1423526 Unspecified IL23A +OMIM:225040 skos:exactMatch UMLS:C1857053 Unspecified ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum +OMIM:605583 skos:exactMatch UMLS:C1854158 Unspecified deafness, autosomal dominant 25 +OMIM:605584 skos:exactMatch HGNC:17211 Unspecified DHX38 +OMIM:605584 skos:exactMatch UMLS:C4748725 Unspecified DHX38 +OMIM:605584 skos:exactMatch UMLS:C1424825 Unspecified DHX38 +OMIM:605584 skos:exactMatch HGNC_symbol:DHX38 Unspecified DHX38 +OMIM:605581 skos:exactMatch UMLS:C1825856 Unspecified B3GNT2 +OMIM:605581 skos:exactMatch HGNC_symbol:B3GNT2 Unspecified B3GNT2 +OMIM:605581 skos:exactMatch HGNC:15629 Unspecified B3GNT2 +OMIM:605582 skos:exactMatch UMLS:C1854159 Unspecified cardiomyopathy, dilated, 1k +OMIM:605587 skos:exactMatch HGNC_symbol:SERPINI2 Unspecified PI14 +OMIM:605587 skos:exactMatch HGNC:8945 Unspecified PI14 +OMIM:605587 skos:exactMatch UMLS:C1335811 Unspecified PI14 +OMIM:605588 skos:exactMatch UMLS:C1854154 Unspecified charcot-marie-tooth disease, axonal, iia 2b1 +OMIM:605585 skos:exactMatch HGNC:17350 Unspecified CDC40 +OMIM:605585 skos:exactMatch HGNC_symbol:CDC40 Unspecified CDC40 +OMIM:605585 skos:exactMatch UMLS:C1424923 Unspecified CDC40 +OMIM:191195 skos:exactMatch HGNC:6860 Unspecified MAP3K8 +OMIM:191195 skos:exactMatch HGNC_symbol:MAP3K8 Unspecified MAP3K8 +OMIM:191195 skos:exactMatch UMLS:C1337108 Unspecified MAP3K8 +OMIM:605586 skos:exactMatch HGNC:9852 Unspecified IPO7 +OMIM:605586 skos:exactMatch UMLS:C1419263 Unspecified IPO7 +OMIM:605586 skos:exactMatch HGNC_symbol:IPO7 Unspecified IPO7 +OMIM:605569 skos:exactMatch HGNC:4523 Unspecified GPR83 +OMIM:605569 skos:exactMatch UMLS:C1415254 Unspecified GPR83 +OMIM:605569 skos:exactMatch HGNC_symbol:GPR83 Unspecified GPR83 +OMIM:605567 skos:exactMatch HGNC:17712 Unspecified SIVA1 +OMIM:605567 skos:exactMatch HGNC_symbol:SIVA1 Unspecified SIVA1 +OMIM:605567 skos:exactMatch UMLS:C1822729 Unspecified SIVA1 +OMIM:605568 skos:exactMatch UMLS:C1539796 Unspecified SMURF1 +OMIM:605568 skos:exactMatch HGNC_symbol:SMURF1 Unspecified SMURF1 +OMIM:605568 skos:exactMatch HGNC:16807 Unspecified SMURF1 +OMIM:617550 skos:exactMatch HGNC:21108 Unspecified PSMG4 +OMIM:617550 skos:exactMatch UMLS:C2239864 Unspecified PSMG4 +OMIM:617550 skos:exactMatch HGNC_symbol:PSMG4 Unspecified PSMG4 +OMIM:617552 skos:exactMatch UMLS:C3146479 Unspecified ARHGEF26 +OMIM:617552 skos:exactMatch HGNC_symbol:ARHGEF26 Unspecified ARHGEF26 +OMIM:617552 skos:exactMatch HGNC:24490 Unspecified ARHGEF26 +OMIM:617551 skos:exactMatch HGNC_symbol:SIDT2 Unspecified SIDT2 +OMIM:617551 skos:exactMatch HGNC:24272 Unspecified SIDT2 +OMIM:617551 skos:exactMatch UMLS:C1539770 Unspecified SIDT2 +OMIM:617554 skos:exactMatch UMLS:C1423920 Unspecified FGD3 +OMIM:617554 skos:exactMatch HGNC_symbol:FGD3 Unspecified FGD3 +OMIM:617554 skos:exactMatch HGNC:16027 Unspecified FGD3 +OMIM:617553 skos:exactMatch HGNC_symbol:FCGBP Unspecified FCGBP +OMIM:617553 skos:exactMatch HGNC:13572 Unspecified FCGBP +OMIM:617553 skos:exactMatch UMLS:C1422071 Unspecified FCGBP +OMIM:617556 skos:exactMatch HGNC:29114 Unspecified FCHSD2 +OMIM:617556 skos:exactMatch HGNC_symbol:FCHSD2 Unspecified FCHSD2 +OMIM:617556 skos:exactMatch UMLS:C1539510 Unspecified FCHSD2 +OMIM:617555 skos:exactMatch HGNC:25463 Unspecified FCHSD1 +OMIM:617555 skos:exactMatch HGNC_symbol:FCHSD1 Unspecified FCHSD1 +OMIM:617555 skos:exactMatch UMLS:C1539509 Unspecified FCHSD1 +OMIM:617547 skos:exactMatch UMLS:C4479651 Unspecified retinal dystrophy with or without macular staphyloma +OMIM:191160 skos:exactMatch HGNC_symbol:TNF Unspecified TNF +OMIM:191160 skos:exactMatch HGNC:11892 Unspecified TNF +OMIM:191160 skos:exactMatch UMLS:C0812246 Unspecified TNF +OMIM:617546 skos:exactMatch HGNC_symbol:HELT Unspecified HELT +OMIM:617546 skos:exactMatch UMLS:C2681564 Unspecified HELT +OMIM:617546 skos:exactMatch HGNC:33783 Unspecified HELT +OMIM:617549 skos:exactMatch UMLS:C1540040 Unspecified TP53INP2 +OMIM:617549 skos:exactMatch HGNC_symbol:TP53INP2 Unspecified TP53INP2 +OMIM:617549 skos:exactMatch HGNC:16104 Unspecified TP53INP2 +OMIM:617548 skos:exactMatch UMLS:C1710643 Unspecified WFDC2 +OMIM:617548 skos:exactMatch HGNC_symbol:WFDC2 Unspecified WFDC2 +OMIM:617548 skos:exactMatch HGNC:15939 Unspecified WFDC2 +OMIM:249000 skos:exactMatch UMLS:C3714506 Unspecified meckel syndrome, iia 1 +OMIM:249000 skos:exactMatch ORPHA:564 Unspecified meckel syndrome, iia 1 +OMIM:605572 skos:exactMatch UMLS:C1854170 Unspecified abdominal obesity-metabolic syndrome quantitative trait locus 2 +OMIM:605573 skos:exactMatch HGNC_symbol:HSD17B3 Unspecified HSD17B3 +OMIM:605573 skos:exactMatch UMLS:C1415739 Unspecified HSD17B3 +OMIM:605573 skos:exactMatch HGNC:5212 Unspecified HSD17B3 +OMIM:605570 skos:exactMatch HGNC:9760 Unspecified RAB11A +OMIM:605570 skos:exactMatch HGNC_symbol:RAB11A Unspecified RAB11A +OMIM:605570 skos:exactMatch UMLS:C1419189 Unspecified RAB11A +OMIM:605571 skos:exactMatch HGNC:9007 Unspecified PIWIL1 +OMIM:605571 skos:exactMatch HGNC_symbol:PIWIL1 Unspecified PIWIL1 +OMIM:605571 skos:exactMatch UMLS:C1418598 Unspecified PIWIL1 +OMIM:191163 skos:exactMatch HGNC_symbol:TNFAIP3 Unspecified TNFAIP3 +OMIM:191163 skos:exactMatch HGNC:11896 Unspecified TNFAIP3 +OMIM:191163 skos:exactMatch UMLS:C1420799 Unspecified TNFAIP3 +OMIM:605576 skos:exactMatch HGNC:14011 Unspecified SMC2 +OMIM:605576 skos:exactMatch UMLS:C1822779 Unspecified SMC2 +OMIM:605576 skos:exactMatch HGNC_symbol:SMC2 Unspecified SMC2 +OMIM:191164 skos:exactMatch HGNC:3221 Unspecified EFNA1 +OMIM:191164 skos:exactMatch HGNC_symbol:EFNA1 Unspecified EFNA1 +OMIM:191164 skos:exactMatch UMLS:C1414300 Unspecified EFNA1 +OMIM:605577 skos:exactMatch HGNC:9879 Unspecified RASGRP2 +OMIM:605577 skos:exactMatch UMLS:C1419284 Unspecified RASGRP2 +OMIM:605577 skos:exactMatch HGNC_symbol:RASGRP2 Unspecified RASGRP2 +OMIM:191161 skos:exactMatch HGNC_symbol:TNFAIP1 Unspecified TNFAIP1 +OMIM:191161 skos:exactMatch HGNC:11894 Unspecified TNFAIP1 +OMIM:191161 skos:exactMatch UMLS:C1420797 Unspecified TNFAIP1 +OMIM:605574 skos:exactMatch HGNC_symbol:UBE2C Unspecified UBE2C +OMIM:605574 skos:exactMatch HGNC:15937 Unspecified UBE2C +OMIM:605574 skos:exactMatch UMLS:C1423844 Unspecified UBE2C +OMIM:605575 skos:exactMatch HGNC:14013 Unspecified SMC4 +OMIM:605575 skos:exactMatch HGNC_symbol:SMC4 Unspecified SMC4 +OMIM:605575 skos:exactMatch UMLS:C1422347 Unspecified SMC4 +OMIM:605558 skos:exactMatch UMLS:C1333537 Unspecified FGF20 +OMIM:605558 skos:exactMatch HGNC_symbol:FGF20 Unspecified FGF20 +OMIM:605558 skos:exactMatch HGNC:3677 Unspecified FGF20 +OMIM:605559 skos:exactMatch HGNC_symbol:HOXC11 Unspecified HOXC11 +OMIM:605559 skos:exactMatch HGNC:5123 Unspecified HOXC11 +OMIM:605559 skos:exactMatch UMLS:C1415675 Unspecified HOXC11 +OMIM:605556 skos:exactMatch HGNC:13811 Unspecified SLC4A10 +OMIM:605556 skos:exactMatch UMLS:C1422206 Unspecified SLC4A10 +OMIM:605556 skos:exactMatch HGNC_symbol:SLC4A10 Unspecified SLC4A10 +OMIM:605557 skos:exactMatch UMLS:C1422337 Unspecified PRDM16 +OMIM:605557 skos:exactMatch HGNC_symbol:PRDM16 Unspecified PRDM16 +OMIM:605557 skos:exactMatch HGNC:14000 Unspecified PRDM16 +OMIM:617541 skos:exactMatch HGNC_symbol:ANKZF1 Unspecified ANKZF1 +OMIM:617541 skos:exactMatch UMLS:C1823698 Unspecified ANKZF1 +OMIM:617541 skos:exactMatch HGNC:25527 Unspecified ANKZF1 +OMIM:617540 skos:exactMatch UMLS:C4539685 Unspecified pituitary adenoma 5, multiple types +OMIM:617543 skos:exactMatch HGNC:10066 Unspecified PCGF3 +OMIM:617543 skos:exactMatch UMLS:C1538599 Unspecified PCGF3 +OMIM:617543 skos:exactMatch HGNC_symbol:PCGF3 Unspecified PCGF3 +OMIM:617542 skos:exactMatch UMLS:C4479640 Unspecified gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development +OMIM:617545 skos:exactMatch UMLS:C3470944 Unspecified MCMDC2 +OMIM:617545 skos:exactMatch HGNC_symbol:MCMDC2 Unspecified MCMDC2 +OMIM:617545 skos:exactMatch HGNC:26368 Unspecified MCMDC2 +OMIM:617544 skos:exactMatch UMLS:C3540281 Unspecified LINC00672 +OMIM:617544 skos:exactMatch HGNC:44353 Unspecified LINC00672 +OMIM:617544 skos:exactMatch HGNC_symbol:LINC00672 Unspecified LINC00672 +OMIM:191170 skos:exactMatch HGNC_symbol:TP53 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C1859973 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C4016282 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C4016419 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C2675080 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C0009402 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C4749067 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C0079419 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C2674060 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C0024305 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C0007102 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C0206624 Unspecified TP53 +OMIM:191170 skos:exactMatch HGNC:11998 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C1969388 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C4748488 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C0205770 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C0431109 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C3553606 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C1835398 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C0029463 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C2750850 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C1851161 Unspecified TP53 +OMIM:191170 skos:exactMatch UMLS:C3836561 Unspecified TP53 +OMIM:225060 skos:exactMatch ORPHA:3253 Unspecified cleft lip/palate-ectodermal dysplasia syndrome +OMIM:225060 skos:exactMatch ORPHA:141291 Unspecified cleft lip/palate-ectodermal dysplasia syndrome +OMIM:225060 skos:exactMatch UMLS:C1833538 Unspecified cleft lip/palate-ectodermal dysplasia syndrome +OMIM:225060 skos:exactMatch ORPHA:199306 Unspecified cleft lip/palate-ectodermal dysplasia syndrome +OMIM:225060 skos:exactMatch ORPHA:199302 Unspecified cleft lip/palate-ectodermal dysplasia syndrome +OMIM:225060 skos:exactMatch UMLS:C2931488 Unspecified cleft lip/palate-ectodermal dysplasia syndrome +OMIM:617536 skos:exactMatch UMLS:C1538315 Unspecified BAIAP2L2 +OMIM:617536 skos:exactMatch HGNC_symbol:BAIAP2L2 Unspecified BAIAP2L2 +OMIM:617536 skos:exactMatch HGNC:26203 Unspecified BAIAP2L2 +OMIM:617535 skos:exactMatch UMLS:C1425722 Unspecified FAIM +OMIM:617535 skos:exactMatch HGNC_symbol:FAIM Unspecified FAIM +OMIM:617535 skos:exactMatch HGNC:18703 Unspecified FAIM +OMIM:617538 skos:exactMatch UMLS:C1539335 Unspecified EFL1 +OMIM:617538 skos:exactMatch HGNC:25789 Unspecified EFL1 +OMIM:617538 skos:exactMatch HGNC_symbol:EFL1 Unspecified EFL1 +OMIM:617537 skos:exactMatch UMLS:C4479637 Unspecified rahman syndrome +OMIM:252650 skos:exactMatch UMLS:C0238286 Unspecified mucolipidosis 4 +OMIM:617539 skos:exactMatch UMLS:C1835927 Unspecified CLCC1 +OMIM:617539 skos:exactMatch UMLS:C1824741 Unspecified CLCC1 +OMIM:617539 skos:exactMatch HGNC:29675 Unspecified CLCC1 +OMIM:617539 skos:exactMatch HGNC_symbol:CLCC1 Unspecified CLCC1 +OMIM:605561 skos:exactMatch UMLS:C1418614 Unspecified PKP3 +OMIM:605561 skos:exactMatch HGNC_symbol:PKP3 Unspecified PKP3 +OMIM:605561 skos:exactMatch HGNC:9025 Unspecified PKP3 +OMIM:605562 skos:exactMatch UMLS:C1417139 Unspecified SCGB2A2 +OMIM:605562 skos:exactMatch HGNC:7050 Unspecified SCGB2A2 +OMIM:605562 skos:exactMatch HGNC_symbol:SCGB2A2 Unspecified SCGB2A2 +OMIM:276600 skos:exactMatch UMLS:C0268487 Unspecified tyrosinemia, iia 2 +OMIM:276600 skos:exactMatch ORPHA:28378 Unspecified tyrosinemia, iia 2 +OMIM:605560 skos:exactMatch UMLS:C1415674 Unspecified HOXC10 +OMIM:605560 skos:exactMatch HGNC_symbol:HOXC10 Unspecified HOXC10 +OMIM:605560 skos:exactMatch HGNC:5122 Unspecified HOXC10 +OMIM:605565 skos:exactMatch UMLS:C1854174 Unspecified RETN +OMIM:605565 skos:exactMatch HGNC:20389 Unspecified RETN +OMIM:605565 skos:exactMatch UMLS:C3837967 Unspecified RETN +OMIM:605565 skos:exactMatch HGNC_symbol:RETN Unspecified RETN +OMIM:605565 skos:exactMatch UMLS:C1426906 Unspecified RETN +OMIM:605566 skos:exactMatch HGNC:18601 Unspecified RTN4R +OMIM:605566 skos:exactMatch HGNC_symbol:RTN4R Unspecified RTN4R +OMIM:605566 skos:exactMatch UMLS:C1425639 Unspecified RTN4R +OMIM:191175 skos:exactMatch HGNC:12028 Unspecified HSP90B1 +OMIM:191175 skos:exactMatch HGNC_symbol:HSP90B1 Unspecified HSP90B1 +OMIM:191175 skos:exactMatch UMLS:C1825546 Unspecified HSP90B1 +OMIM:605563 skos:exactMatch HGNC:1384 Unspecified CABP1 +OMIM:605563 skos:exactMatch UMLS:C1413053 Unspecified CABP1 +OMIM:605563 skos:exactMatch HGNC_symbol:CABP1 Unspecified CABP1 +OMIM:605564 skos:exactMatch UMLS:C1538465 Unspecified CIB2 +OMIM:605564 skos:exactMatch HGNC:24579 Unspecified CIB2 +OMIM:605564 skos:exactMatch HGNC_symbol:CIB2 Unspecified CIB2 +OMIM:225000 skos:exactMatch UMLS:C0796139 Unspecified rosselli-gulienetti syndrome +OMIM:213010 skos:exactMatch UMLS:C1859300 Unspecified cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome +OMIM:264600 skos:exactMatch UMLS:C0268297 Unspecified pseudovaginal perineoscrotal hypospadias +OMIM:264600 skos:exactMatch UMLS:C4551492 Unspecified pseudovaginal perineoscrotal hypospadias +OMIM:201050 skos:exactMatch UMLS:C1860145 Unspecified acrocraniofacial dysostosis +OMIM:252605 skos:exactMatch UMLS:C1854896 Unspecified mucolipidosis 3 gamma +OMIM:617590 skos:exactMatch HGNC:11267 Unspecified SPRR2G +OMIM:617590 skos:exactMatch UMLS:C1420380 Unspecified SPRR2G +OMIM:617590 skos:exactMatch HGNC_symbol:SPRR2G Unspecified SPRR2G +OMIM:617592 skos:exactMatch UMLS:C4539818 Unspecified spermatogenic failure 19 +OMIM:617591 skos:exactMatch UMLS:C4747850 Unspecified proteasome-associated autoinflammatory syndrome 3 +OMIM:617594 skos:exactMatch HGNC_symbol:JHY Unspecified JHY +OMIM:617594 skos:exactMatch HGNC:26288 Unspecified JHY +OMIM:617594 skos:exactMatch UMLS:C1824329 Unspecified JHY +OMIM:617593 skos:exactMatch UMLS:C4539824 Unspecified spermatogenic failure 20 +OMIM:617596 skos:exactMatch UMLS:C1291607 Unspecified maleylacetoacetate isomerase deficiency +OMIM:617595 skos:exactMatch ORPHA:505242 Unspecified birk-landau-perez syndrome +OMIM:617595 skos:exactMatch UMLS:C4539828 Unspecified birk-landau-perez syndrome +OMIM:617598 skos:exactMatch UMLS:C4539839 Unspecified mosaic variegated aneuploidy syndrome 3 +OMIM:617597 skos:exactMatch HGNC_symbol:RETSAT Unspecified RETSAT +OMIM:617597 skos:exactMatch HGNC:25991 Unspecified RETSAT +OMIM:617597 skos:exactMatch UMLS:C1826796 Unspecified RETSAT +OMIM:617599 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 55 +OMIM:617599 skos:exactMatch UMLS:C4539843 Unspecified developmental and epileptic encephalopathy 55 +OMIM:252600 skos:exactMatch UMLS:C2673375 Unspecified mucolipidosis 3 alpha/beta +OMIM:252600 skos:exactMatch UMLS:C0033788 Unspecified mucolipidosis 3 alpha/beta +OMIM:617581 skos:exactMatch HGNC_symbol:C2CD2 Unspecified C2CD2 +OMIM:617581 skos:exactMatch UMLS:C2240246 Unspecified C2CD2 +OMIM:617581 skos:exactMatch HGNC:1266 Unspecified C2CD2 +OMIM:237000 skos:exactMatch UMLS:C0268531 Unspecified hydroxyprolinemia +OMIM:617580 skos:exactMatch HGNC_symbol:TSPAN16 Unspecified TSPAN16 +OMIM:617580 skos:exactMatch HGNC:30725 Unspecified TSPAN16 +OMIM:617580 skos:exactMatch UMLS:C1540096 Unspecified TSPAN16 +OMIM:617583 skos:exactMatch HGNC_symbol:SRXN1 Unspecified SRXN1 +OMIM:617583 skos:exactMatch UMLS:C1823127 Unspecified SRXN1 +OMIM:617583 skos:exactMatch HGNC:16132 Unspecified SRXN1 +OMIM:311510 skos:exactMatch UMLS:C0796195 Unspecified waisman syndrome +OMIM:617582 skos:exactMatch HGNC_symbol:C2CD2L Unspecified C2CD2L +OMIM:617582 skos:exactMatch HGNC:29000 Unspecified C2CD2L +OMIM:617582 skos:exactMatch UMLS:C1428768 Unspecified C2CD2L +OMIM:617585 skos:exactMatch UMLS:C4539811 Unspecified immunodeficiency 53 +OMIM:617584 skos:exactMatch UMLS:C4539808 Unspecified spinocerebellar ataxia, autosomal recessive 25 +OMIM:617587 skos:exactMatch HGNC_symbol:SPRR2D Unspecified SPRR2D +OMIM:617587 skos:exactMatch HGNC:11264 Unspecified SPRR2D +OMIM:617587 skos:exactMatch UMLS:C1420377 Unspecified SPRR2D +OMIM:617586 skos:exactMatch HGNC:16460 Unspecified FARP2 +OMIM:617586 skos:exactMatch UMLS:C1424298 Unspecified FARP2 +OMIM:617586 skos:exactMatch HGNC_symbol:FARP2 Unspecified FARP2 +OMIM:617589 skos:exactMatch UMLS:C1420379 Unspecified SPRR2F +OMIM:617589 skos:exactMatch HGNC_symbol:SPRR2F Unspecified SPRR2F +OMIM:617589 skos:exactMatch HGNC:11266 Unspecified SPRR2F +OMIM:132800 skos:exactMatch UMLS:C4083047 Unspecified multiple self-healing squamous epithelioma, susceptibility to +OMIM:617588 skos:exactMatch HGNC_symbol:SPRR2E Unspecified SPRR2E +OMIM:617588 skos:exactMatch HGNC:11265 Unspecified SPRR2E +OMIM:617588 skos:exactMatch UMLS:C1420378 Unspecified SPRR2E +OMIM:617579 skos:exactMatch HGNC:2033 Unspecified CLDN10 +OMIM:617579 skos:exactMatch UMLS:C1413461 Unspecified CLDN10 +OMIM:617579 skos:exactMatch HGNC_symbol:CLDN10 Unspecified CLDN10 +OMIM:240600 skos:exactMatch UMLS:C1855861 Unspecified glycogen storage disease 0, liver +OMIM:203655 skos:exactMatch UMLS:C1859877 Unspecified alopecia universalis congenita +OMIM:203650 skos:exactMatch UMLS:C1859878 Unspecified alopecia-mental retardation syndrome 1 +OMIM:203650 skos:exactMatch UMLS:C4551986 Unspecified alopecia-mental retardation syndrome 1 +OMIM:203650 skos:exactMatch ORPHA:2850 Unspecified alopecia-mental retardation syndrome 1 +OMIM:132810 skos:exactMatch UMLS:C1134446 Unspecified EPHX1 +OMIM:132810 skos:exactMatch HGNC:3401 Unspecified EPHX1 +OMIM:132810 skos:exactMatch HGNC_symbol:EPHX1 Unspecified EPHX1 +OMIM:132811 skos:exactMatch HGNC_symbol:EPHX2 Unspecified EPHX2 +OMIM:132811 skos:exactMatch HGNC:3402 Unspecified EPHX2 +OMIM:132811 skos:exactMatch UMLS:C1414433 Unspecified EPHX2 +OMIM:129190 skos:exactMatch HGNC:8021 Unspecified NT5E +OMIM:129190 skos:exactMatch HGNC_symbol:NT5E Unspecified NT5E +OMIM:129190 skos:exactMatch UMLS:C1417861 Unspecified NT5E +OMIM:201000 skos:exactMatch UMLS:C4551510 Unspecified carpenter syndrome 1 +OMIM:144800 skos:exactMatch UMLS:C0020494 Unspecified hyperostosis frontalis interna +OMIM:227646 skos:exactMatch UMLS:C3160738 Unspecified fanconi anemia, complementation group d2 +OMIM:227645 skos:exactMatch UMLS:C3468041 Unspecified fanconi anemia, complementation group c +OMIM:227650 skos:exactMatch UMLS:C1856796 Unspecified fanconi anemia, complementation group a +OMIM:227650 skos:exactMatch UMLS:C1856797 Unspecified fanconi anemia, complementation group a +OMIM:227650 skos:exactMatch UMLS:C3469521 Unspecified fanconi anemia, complementation group a +OMIM:201020 skos:exactMatch UMLS:C0265303 Unspecified acrocephalopolysyndactyly iia 4 +OMIM:213002 skos:exactMatch UMLS:C1859301 Unspecified +OMIM:213000 skos:exactMatch ORPHA:2246 Unspecified cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay +OMIM:213000 skos:exactMatch UMLS:C5231391 Unspecified cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay +OMIM:168800 skos:exactMatch UMLS:C1868590 Unspecified parotidomegaly, hereditary bilateral +OMIM:132850 skos:exactMatch UMLS:C1414241 Unspecified epstein-barr virus insertion site 1 +OMIM:132850 skos:exactMatch HGNC_symbol:EBVS1 Unspecified epstein-barr virus insertion site 1 +OMIM:132850 skos:exactMatch HGNC:3143 Unspecified epstein-barr virus insertion site 1 +OMIM:130200 skos:exactMatch UMLS:C1851757 Unspecified electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon +OMIM:156810 skos:exactMatch UMLS:C1834929 Unspecified microgastria-limb reduction defects association +OMIM:129150 skos:exactMatch UMLS:C1851888 Unspecified echo virus 11 sensitivity +OMIM:215600 skos:exactMatch UMLS:C1876165 Unspecified cirrhosis, familial +OMIM:215600 skos:exactMatch UMLS:C1876166 Unspecified cirrhosis, familial +OMIM:215600 skos:exactMatch UMLS:C0268074 Unspecified cirrhosis, familial +OMIM:215600 skos:exactMatch UMLS:C1859088 Unspecified cirrhosis, familial +OMIM:215600 skos:exactMatch UMLS:C1835713 Unspecified cirrhosis, familial +OMIM:215600 skos:exactMatch UMLS:C0267809 Unspecified cirrhosis, familial +OMIM:215600 skos:exactMatch UMLS:C1861556 Unspecified cirrhosis, familial +OMIM:168820 skos:exactMatch UMLS:C3149706 Unspecified PON1 +OMIM:168820 skos:exactMatch UMLS:C1418754 Unspecified PON1 +OMIM:168820 skos:exactMatch HGNC_symbol:PON1 Unspecified PON1 +OMIM:168820 skos:exactMatch UMLS:C2674662 Unspecified PON1 +OMIM:168820 skos:exactMatch UMLS:C2674663 Unspecified PON1 +OMIM:168820 skos:exactMatch UMLS:C1840169 Unspecified PON1 +OMIM:168820 skos:exactMatch HGNC:9204 Unspecified PON1 +OMIM:156845 skos:exactMatch HGNC:7105 Unspecified MITF +OMIM:156845 skos:exactMatch UMLS:C3152204 Unspecified MITF +OMIM:156845 skos:exactMatch UMLS:C4310625 Unspecified MITF +OMIM:156845 skos:exactMatch UMLS:C0391816 Unspecified MITF +OMIM:156845 skos:exactMatch UMLS:C1860339 Unspecified MITF +OMIM:156845 skos:exactMatch UMLS:C1417172 Unspecified MITF +OMIM:156845 skos:exactMatch HGNC_symbol:MITF Unspecified MITF +OMIM:227600 skos:exactMatch UMLS:C0015519 Unspecified factor 10 deficiency +OMIM:168810 skos:exactMatch HGNC:9338 Unspecified PRB2 +OMIM:168810 skos:exactMatch UMLS:C1418867 Unspecified PRB2 +OMIM:168810 skos:exactMatch HGNC_symbol:PRB2 Unspecified PRB2 +OMIM:132880 skos:exactMatch HGNC:7977 Unspecified NR2F6 +OMIM:132880 skos:exactMatch UMLS:C0812264 Unspecified NR2F6 +OMIM:132880 skos:exactMatch HGNC_symbol:NR2F6 Unspecified NR2F6 +OMIM:156830 skos:exactMatch UMLS:C1834928 Unspecified micromelic bone dysplasia with cloverleaf skull +OMIM:120790 skos:exactMatch UMLS:C1852700 Unspecified complement component 4, partial deficiency of +OMIM:142200 skos:exactMatch HGNC_symbol:HBG1 Unspecified HBG1 +OMIM:142200 skos:exactMatch HGNC:4831 Unspecified HBG1 +OMIM:142200 skos:exactMatch UMLS:C1415485 Unspecified HBG1 +OMIM:144750 skos:exactMatch ORPHA:2790 Unspecified endosteal hyperostosis, autosomal dominant +OMIM:144750 skos:exactMatch UMLS:C0432273 Unspecified endosteal hyperostosis, autosomal dominant +OMIM:181700 skos:exactMatch UMLS:C1866984 Unspecified sclerocornea, autosomal dominant +OMIM:144755 skos:exactMatch UMLS:C1840404 Unspecified hyperostosis cranialis interna +OMIM:520100 skos:exactMatch UMLS:C1838912 Unspecified diarrhea, chronic, with villous atrophy +OMIM:168710 skos:exactMatch UMLS:C1868593 Unspecified parotid proline-rich salivary protein pc +OMIM:130120 skos:exactMatch HGNC:3308 Unspecified CELA1 +OMIM:130120 skos:exactMatch UMLS:C1414368 Unspecified CELA1 +OMIM:130120 skos:exactMatch HGNC_symbol:CELA1 Unspecified CELA1 +OMIM:142100 skos:exactMatch HGNC:4830 Unspecified HBE1 +OMIM:142100 skos:exactMatch UMLS:C1415484 Unspecified HBE1 +OMIM:142100 skos:exactMatch HGNC_symbol:HBE1 Unspecified HBE1 +OMIM:130130 skos:exactMatch HGNC_symbol:ELANE Unspecified ELANE +OMIM:130130 skos:exactMatch HGNC:3309 Unspecified ELANE +OMIM:130130 skos:exactMatch UMLS:C1414369 Unspecified ELANE +OMIM:105250 skos:exactMatch UMLS:C4551501 Unspecified amyloidosis, primary localized cutaneous, 1 +OMIM:130135 skos:exactMatch HGNC:3311 Unspecified SERPINB1 +OMIM:130135 skos:exactMatch HGNC_symbol:SERPINB1 Unspecified SERPINB1 +OMIM:130135 skos:exactMatch UMLS:C1414370 Unspecified SERPINB1 +OMIM:168730 skos:exactMatch UMLS:C1418892 Unspecified PRH1 +OMIM:168730 skos:exactMatch HGNC_symbol:PRH1 Unspecified PRH1 +OMIM:168730 skos:exactMatch HGNC:9366 Unspecified PRH1 +OMIM:203600 skos:exactMatch UMLS:C0265328 Unspecified alopecia-epilepsy-oligophrenia syndrome of moynahan +OMIM:154100 skos:exactMatch UMLS:C1417088 Unspecified MDH2 +OMIM:154100 skos:exactMatch HGNC_symbol:MDH2 Unspecified MDH2 +OMIM:154100 skos:exactMatch UMLS:C4479208 Unspecified MDH2 +OMIM:154100 skos:exactMatch HGNC:6971 Unspecified MDH2 +OMIM:129200 skos:exactMatch ORPHA:1658 Unspecified basan syndrome +OMIM:129200 skos:exactMatch UMLS:C0406707 Unspecified basan syndrome +OMIM:130160 skos:exactMatch UMLS:C3276539 Unspecified ELN +OMIM:130160 skos:exactMatch HGNC_symbol:ELN Unspecified ELN +OMIM:130160 skos:exactMatch UMLS:C1414382 Unspecified ELN +OMIM:130160 skos:exactMatch UMLS:C0003499 Unspecified ELN +OMIM:130160 skos:exactMatch HGNC:3327 Unspecified ELN +OMIM:181750 skos:exactMatch UMLS:C0206138 Unspecified scleroderma, familial progressive +OMIM:181750 skos:exactMatch UMLS:C1866983 Unspecified scleroderma, familial progressive +OMIM:117210 skos:exactMatch UMLS:C1861736 Unspecified spinocerebellar ataxia 31 +OMIM:117210 skos:exactMatch ORPHA:217012 Unspecified spinocerebellar ataxia 31 +OMIM:193700 skos:exactMatch UMLS:C0265224 Unspecified arthrogryposis, distal, iia 2a +OMIM:105200 skos:exactMatch UMLS:C0268389 Unspecified amyloidosis, familial visceral +OMIM:156790 skos:exactMatch HGNC:7033 Unspecified MFAP2 +OMIM:156790 skos:exactMatch UMLS:C1417127 Unspecified MFAP2 +OMIM:156790 skos:exactMatch HGNC_symbol:MFAP2 Unspecified MFAP2 +OMIM:130180 skos:exactMatch UMLS:C1851759 Unspecified electroencephalogram, low-voltage +OMIM:120830 skos:exactMatch HGNC:1325 Unspecified C4BPA +OMIM:120830 skos:exactMatch HGNC_symbol:C4BPA Unspecified C4BPA +OMIM:120830 skos:exactMatch UMLS:C1413002 Unspecified C4BPA +OMIM:120830 skos:exactMatch UMLS:C1413001 Unspecified C4BPA +OMIM:105210 skos:exactMatch UMLS:C3151470 Unspecified amyloidosis, hereditary, transthyretin-related +OMIM:105210 skos:exactMatch UMLS:C3151471 Unspecified amyloidosis, hereditary, transthyretin-related +OMIM:105210 skos:exactMatch UMLS:C2751492 Unspecified amyloidosis, hereditary, transthyretin-related +OMIM:130190 skos:exactMatch UMLS:C3549684 Unspecified electroencephalographic pattern, beta frequency, quantitative trait locus +OMIM:120831 skos:exactMatch HGNC:1328 Unspecified C4BPB +OMIM:120831 skos:exactMatch HGNC_symbol:C4BPB Unspecified C4BPB +OMIM:120831 skos:exactMatch UMLS:C1413004 Unspecified C4BPB +OMIM:605503 skos:exactMatch HGNC:7213 Unspecified MPHOSPH10 +OMIM:605503 skos:exactMatch HGNC_symbol:MPHOSPH10 Unspecified MPHOSPH10 +OMIM:605503 skos:exactMatch UMLS:C1417241 Unspecified MPHOSPH10 +OMIM:605504 skos:exactMatch UMLS:C1416680 Unspecified KLK9 +OMIM:605504 skos:exactMatch HGNC_symbol:KLK9 Unspecified KLK9 +OMIM:605504 skos:exactMatch HGNC:6370 Unspecified KLK9 +OMIM:605501 skos:exactMatch HGNC:7215 Unspecified MPHOSPH9 +OMIM:605501 skos:exactMatch HGNC_symbol:MPHOSPH9 Unspecified MPHOSPH9 +OMIM:605501 skos:exactMatch UMLS:C1417243 Unspecified MPHOSPH9 +OMIM:605502 skos:exactMatch HGNC:13192 Unspecified DNAJC2 +OMIM:605502 skos:exactMatch HGNC_symbol:DNAJC2 Unspecified DNAJC2 +OMIM:605502 skos:exactMatch UMLS:C1421867 Unspecified DNAJC2 +OMIM:605507 skos:exactMatch HGNC_symbol:IL36RN Unspecified IL36RN +OMIM:605507 skos:exactMatch UMLS:C4759670 Unspecified IL36RN +OMIM:605507 skos:exactMatch HGNC:15561 Unspecified IL36RN +OMIM:605507 skos:exactMatch UMLS:C1423573 Unspecified IL36RN +OMIM:605508 skos:exactMatch HGNC:15564 Unspecified IL36B +OMIM:605508 skos:exactMatch HGNC_symbol:IL36B Unspecified IL36B +OMIM:605508 skos:exactMatch UMLS:C1423576 Unspecified IL36B +OMIM:605505 skos:exactMatch HGNC_symbol:KLK13 Unspecified KLK13 +OMIM:605505 skos:exactMatch UMLS:C1416673 Unspecified KLK13 +OMIM:605505 skos:exactMatch HGNC:6361 Unspecified KLK13 +OMIM:605506 skos:exactMatch UMLS:C1823638 Unspecified VPS26A +OMIM:605506 skos:exactMatch HGNC_symbol:VPS26A Unspecified VPS26A +OMIM:605506 skos:exactMatch HGNC:12711 Unspecified VPS26A +OMIM:605509 skos:exactMatch HGNC:15562 Unspecified IL36A +OMIM:605509 skos:exactMatch UMLS:C1423574 Unspecified IL36A +OMIM:605509 skos:exactMatch HGNC_symbol:IL36A Unspecified IL36A +OMIM:191100 skos:exactMatch UMLS:C0041341 Unspecified tuberous sclerosis 1 +OMIM:191100 skos:exactMatch UMLS:C1854465 Unspecified tuberous sclerosis 1 +OMIM:605510 skos:exactMatch HGNC:15563 Unspecified IL37 +OMIM:605510 skos:exactMatch HGNC_symbol:IL37 Unspecified IL37 +OMIM:605510 skos:exactMatch UMLS:C1423575 Unspecified IL37 +OMIM:605511 skos:exactMatch HGNC:11877 Unspecified TMPRSS3 +OMIM:605511 skos:exactMatch UMLS:C1420784 Unspecified TMPRSS3 +OMIM:605511 skos:exactMatch HGNC_symbol:TMPRSS3 Unspecified TMPRSS3 +OMIM:120820 skos:exactMatch HGNC_symbol:C4B Unspecified C4B +OMIM:120820 skos:exactMatch HGNC:1324 Unspecified C4B +OMIM:120820 skos:exactMatch UMLS:C1413000 Unspecified C4B +OMIM:168790 skos:exactMatch UMLS:C1418893 Unspecified PRH2 +OMIM:168790 skos:exactMatch HGNC_symbol:PRH2 Unspecified PRH2 +OMIM:168790 skos:exactMatch HGNC:9367 Unspecified PRH2 +OMIM:191110 skos:exactMatch UMLS:C1421226 Unspecified TUBA4A +OMIM:191110 skos:exactMatch HGNC_symbol:TUBA4A Unspecified TUBA4A +OMIM:191110 skos:exactMatch HGNC:12407 Unspecified TUBA4A +OMIM:107850 skos:exactMatch UMLS:C1862535 Unspecified arm folding preference +OMIM:605500 skos:exactMatch HGNC:7214 Unspecified MPHOSPH6 +OMIM:605500 skos:exactMatch HGNC_symbol:MPHOSPH6 Unspecified MPHOSPH6 +OMIM:605500 skos:exactMatch UMLS:C1417242 Unspecified MPHOSPH6 +OMIM:178110 skos:exactMatch ORPHA:65743 Unspecified contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a +OMIM:178110 skos:exactMatch UMLS:C1867440 Unspecified contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a +OMIM:120810 skos:exactMatch UMLS:C1412999 Unspecified C4A +OMIM:120810 skos:exactMatch HGNC_symbol:C4A Unspecified C4A +OMIM:120810 skos:exactMatch HGNC:1323 Unspecified C4A +OMIM:120810 skos:exactMatch UMLS:C3280642 Unspecified C4A +OMIM:107820 skos:exactMatch HGNC:9870 Unspecified RARS1 +OMIM:107820 skos:exactMatch UMLS:C1419276 Unspecified RARS1 +OMIM:107820 skos:exactMatch HGNC_symbol:RARS1 Unspecified RARS1 +OMIM:119800 skos:exactMatch UMLS:C0009081 Unspecified clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly +OMIM:311550 skos:exactMatch UMLS:C1335197 Unspecified CDK16 +OMIM:311550 skos:exactMatch HGNC:8749 Unspecified CDK16 +OMIM:311550 skos:exactMatch HGNC_symbol:CDK16 Unspecified CDK16 +OMIM:107830 skos:exactMatch UMLS:C1412516 Unspecified ARG2 +OMIM:107830 skos:exactMatch HGNC_symbol:ARG2 Unspecified ARG2 +OMIM:107830 skos:exactMatch HGNC:664 Unspecified ARG2 +OMIM:605547 skos:exactMatch HGNC_symbol:FSTL1 Unspecified FSTL1 +OMIM:605547 skos:exactMatch UMLS:C1537834 Unspecified FSTL1 +OMIM:605547 skos:exactMatch HGNC:3972 Unspecified FSTL1 +OMIM:605547 skos:exactMatch UMLS:C1414831 Unspecified FSTL1 +OMIM:605548 skos:exactMatch HGNC_symbol:ADAM15 Unspecified ADAM15 +OMIM:605548 skos:exactMatch UMLS:C1332017 Unspecified ADAM15 +OMIM:605548 skos:exactMatch HGNC:193 Unspecified ADAM15 +OMIM:605545 skos:exactMatch HGNC_symbol:CD163 Unspecified CD163 +OMIM:605545 skos:exactMatch HGNC:1631 Unspecified CD163 +OMIM:605545 skos:exactMatch UMLS:C1413204 Unspecified CD163 +OMIM:605546 skos:exactMatch UMLS:C1422611 Unspecified GP6 +OMIM:605546 skos:exactMatch HGNC_symbol:GP6 Unspecified GP6 +OMIM:605546 skos:exactMatch HGNC:14388 Unspecified GP6 +OMIM:605549 skos:exactMatch UMLS:C1854180 Unspecified cone-rod dystrophy 8 +OMIM:617530 skos:exactMatch UMLS:C1825281 Unspecified FASTKD3 +OMIM:617530 skos:exactMatch HGNC_symbol:FASTKD3 Unspecified FASTKD3 +OMIM:617530 skos:exactMatch HGNC:28758 Unspecified FASTKD3 +OMIM:617532 skos:exactMatch UMLS:C4479636 Unspecified intellectual developmental disorder with neuropsychiatric features +OMIM:617531 skos:exactMatch UMLS:C1539578 Unspecified COLGALT1 +OMIM:617531 skos:exactMatch HGNC_symbol:COLGALT1 Unspecified COLGALT1 +OMIM:617531 skos:exactMatch HGNC:26182 Unspecified COLGALT1 +OMIM:617534 skos:exactMatch HGNC_symbol:YIPF4 Unspecified YIPF4 +OMIM:617534 skos:exactMatch HGNC:28145 Unspecified YIPF4 +OMIM:617534 skos:exactMatch UMLS:C1823889 Unspecified YIPF4 +OMIM:617533 skos:exactMatch UMLS:C1539579 Unspecified COLGALT2 +OMIM:617533 skos:exactMatch HGNC_symbol:COLGALT2 Unspecified COLGALT2 +OMIM:617533 skos:exactMatch HGNC:16790 Unspecified COLGALT2 +OMIM:617525 skos:exactMatch UMLS:C4479619 Unspecified erythrokeratodermia variabilis et progressiva 3 +OMIM:617524 skos:exactMatch UMLS:C4479618 Unspecified erythrokeratodermia variabilis et progressiva 2 +OMIM:617527 skos:exactMatch ORPHA:521426 Unspecified neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies +OMIM:617527 skos:exactMatch UMLS:C4479631 Unspecified neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies +OMIM:617526 skos:exactMatch UMLS:C4479620 Unspecified erythrokeratodermia variabilis et progressiva 4 +OMIM:617529 skos:exactMatch HGNC:26150 Unspecified FASTKD1 +OMIM:617529 skos:exactMatch UMLS:C1825279 Unspecified FASTKD1 +OMIM:617529 skos:exactMatch HGNC_symbol:FASTKD1 Unspecified FASTKD1 +OMIM:617528 skos:exactMatch HGNC_symbol:PSMG3 Unspecified PSMG3 +OMIM:617528 skos:exactMatch HGNC:22420 Unspecified PSMG3 +OMIM:617528 skos:exactMatch UMLS:C1824233 Unspecified PSMG3 +OMIM:605550 skos:exactMatch UMLS:C1335596 Unspecified RASD1 +OMIM:605550 skos:exactMatch HGNC:15828 Unspecified RASD1 +OMIM:605550 skos:exactMatch HGNC_symbol:RASD1 Unspecified RASD1 +OMIM:605551 skos:exactMatch UMLS:C1826455 Unspecified NOS1AP +OMIM:605551 skos:exactMatch HGNC_symbol:NOS1AP Unspecified NOS1AP +OMIM:605551 skos:exactMatch HGNC:16859 Unspecified NOS1AP +OMIM:605554 skos:exactMatch HGNC_symbol:CD244 Unspecified CD244 +OMIM:605554 skos:exactMatch HGNC:18171 Unspecified CD244 +OMIM:605554 skos:exactMatch UMLS:C1425360 Unspecified CD244 +OMIM:605555 skos:exactMatch UMLS:C4538355 Unspecified AIP +OMIM:605555 skos:exactMatch HGNC:358 Unspecified AIP +OMIM:605555 skos:exactMatch HGNC_symbol:AIP Unspecified AIP +OMIM:605555 skos:exactMatch UMLS:C4540568 Unspecified AIP +OMIM:605555 skos:exactMatch UMLS:C1863340 Unspecified AIP +OMIM:605555 skos:exactMatch UMLS:C1412302 Unspecified AIP +OMIM:605552 skos:exactMatch UMLS:C1854178 Unspecified abdominal obesity-metabolic syndrome 1 +OMIM:605552 skos:exactMatch UMLS:C4552048 Unspecified abdominal obesity-metabolic syndrome 1 +OMIM:605552 skos:exactMatch UMLS:C1970051 Unspecified abdominal obesity-metabolic syndrome 1 +OMIM:107800 skos:exactMatch UMLS:C0003742 Unspecified arcus corneae +OMIM:605553 skos:exactMatch HGNC_symbol:PAPOLA Unspecified PAPOLA +OMIM:605553 skos:exactMatch HGNC:14981 Unspecified PAPOLA +OMIM:605553 skos:exactMatch UMLS:C1423108 Unspecified PAPOLA +OMIM:605536 skos:exactMatch UMLS:C1538768 Unspecified RAB11FIP5 +OMIM:605536 skos:exactMatch HGNC:24845 Unspecified RAB11FIP5 +OMIM:605536 skos:exactMatch HGNC_symbol:RAB11FIP5 Unspecified RAB11FIP5 +OMIM:605537 skos:exactMatch UMLS:C1412622 Unspecified ATF6 +OMIM:605537 skos:exactMatch HGNC_symbol:ATF6 Unspecified ATF6 +OMIM:605537 skos:exactMatch HGNC:791 Unspecified ATF6 +OMIM:605534 skos:exactMatch HGNC_symbol:HMG20A Unspecified HMG20A +OMIM:605534 skos:exactMatch HGNC:5001 Unspecified HMG20A +OMIM:605534 skos:exactMatch UMLS:C1415611 Unspecified HMG20A +OMIM:605535 skos:exactMatch HGNC_symbol:HMG20B Unspecified HMG20B +OMIM:605535 skos:exactMatch HGNC:5002 Unspecified HMG20B +OMIM:605535 skos:exactMatch UMLS:C1415612 Unspecified HMG20B +OMIM:605538 skos:exactMatch UMLS:C1417871 Unspecified NTSR2 +OMIM:605538 skos:exactMatch HGNC:8040 Unspecified NTSR2 +OMIM:605538 skos:exactMatch HGNC_symbol:NTSR2 Unspecified NTSR2 +OMIM:605539 skos:exactMatch HGNC:6360 Unspecified KLK12 +OMIM:605539 skos:exactMatch HGNC_symbol:KLK12 Unspecified KLK12 +OMIM:605539 skos:exactMatch UMLS:C1416672 Unspecified KLK12 +OMIM:617521 skos:exactMatch HGNC:25231 Unspecified YIPF1 +OMIM:617521 skos:exactMatch HGNC_symbol:YIPF1 Unspecified YIPF1 +OMIM:617521 skos:exactMatch UMLS:C1823886 Unspecified YIPF1 +OMIM:617520 skos:exactMatch UMLS:C4479608 Unspecified microcephaly 18, primary, autosomal dominant +OMIM:617523 skos:exactMatch UMLS:C4479613 Unspecified neurodevelopmental disorder with midbrain and hindbrain malformations +OMIM:617522 skos:exactMatch HGNC_symbol:YIPF2 Unspecified YIPF2 +OMIM:617522 skos:exactMatch HGNC:28476 Unspecified YIPF2 +OMIM:617522 skos:exactMatch UMLS:C1823887 Unspecified YIPF2 +OMIM:617514 skos:exactMatch UMLS:C4479588 Unspecified immunodeficiency 52 +OMIM:617513 skos:exactMatch HGNC_symbol:OGDHL Unspecified OGDHL +OMIM:617513 skos:exactMatch HGNC:25590 Unspecified OGDHL +OMIM:617513 skos:exactMatch UMLS:C1538529 Unspecified OGDHL +OMIM:617516 skos:exactMatch UMLS:C4479599 Unspecified stankiewicz-isidor syndrome +OMIM:617515 skos:exactMatch HGNC:23081 Unspecified RHBDD1 +OMIM:617515 skos:exactMatch UMLS:C1826822 Unspecified RHBDD1 +OMIM:617515 skos:exactMatch HGNC_symbol:RHBDD1 Unspecified RHBDD1 +OMIM:617518 skos:exactMatch HGNC_symbol:BSDC1 Unspecified BSDC1 +OMIM:617518 skos:exactMatch HGNC:25501 Unspecified BSDC1 +OMIM:617518 skos:exactMatch UMLS:C1823191 Unspecified BSDC1 +OMIM:617517 skos:exactMatch HGNC_symbol:RPS6KC1 Unspecified RPS6KC1 +OMIM:617517 skos:exactMatch UMLS:C1419750 Unspecified RPS6KC1 +OMIM:617517 skos:exactMatch HGNC:10439 Unspecified RPS6KC1 +OMIM:617519 skos:exactMatch UMLS:C4479603 Unspecified neurodevelopmental disorder with hypotonia, neuropathy, and deafness +OMIM:605540 skos:exactMatch HGNC_symbol:TENT4B Unspecified TENT4B +OMIM:605540 skos:exactMatch UMLS:C1428996 Unspecified TENT4B +OMIM:605540 skos:exactMatch HGNC:30758 Unspecified TENT4B +OMIM:191155 skos:exactMatch HGNC_symbol:TM4SF1 Unspecified TM4SF1 +OMIM:191155 skos:exactMatch HGNC:11853 Unspecified TM4SF1 +OMIM:191155 skos:exactMatch UMLS:C0920268 Unspecified TM4SF1 +OMIM:605543 skos:exactMatch UMLS:C1854182 Unspecified parkinson disease 4, autosomal dominant +OMIM:605544 skos:exactMatch UMLS:C1854181 Unspecified fibromatosis, gingival, 2 +OMIM:605541 skos:exactMatch HGNC:12659 Unspecified VAV3 +OMIM:605541 skos:exactMatch HGNC_symbol:VAV3 Unspecified VAV3 +OMIM:605541 skos:exactMatch UMLS:C1336927 Unspecified VAV3 +OMIM:191150 skos:exactMatch UMLS:C0398741 Unspecified tuftsin deficiency +OMIM:605542 skos:exactMatch HGNC_symbol:IL36G Unspecified IL36G +OMIM:605542 skos:exactMatch UMLS:C1423696 Unspecified IL36G +OMIM:605542 skos:exactMatch HGNC:15741 Unspecified IL36G +OMIM:605525 skos:exactMatch UMLS:C1332742 Unspecified CDT1 +OMIM:605525 skos:exactMatch HGNC:24576 Unspecified CDT1 +OMIM:605525 skos:exactMatch HGNC_symbol:CDT1 Unspecified CDT1 +OMIM:605526 skos:exactMatch UMLS:C2676409 Unspecified alzheimer disease 6 +OMIM:605526 skos:exactMatch UMLS:C1854187 Unspecified alzheimer disease 6 +OMIM:605523 skos:exactMatch HGNC_symbol:TOB1 Unspecified TOB1 +OMIM:605523 skos:exactMatch HGNC:11979 Unspecified TOB1 +OMIM:605523 skos:exactMatch UMLS:C1420851 Unspecified TOB1 +OMIM:605529 skos:exactMatch HGNC:17854 Unspecified UPF2 +OMIM:605529 skos:exactMatch UMLS:C1425133 Unspecified UPF2 +OMIM:605529 skos:exactMatch HGNC_symbol:UPF2 Unspecified UPF2 +OMIM:605527 skos:exactMatch HGNC_symbol:MAT2B Unspecified MAT2B +OMIM:605527 skos:exactMatch HGNC:6905 Unspecified MAT2B +OMIM:605527 skos:exactMatch UMLS:C1417040 Unspecified MAT2B +OMIM:605528 skos:exactMatch HGNC:7759 Unspecified NEU2 +OMIM:605528 skos:exactMatch HGNC_symbol:NEU2 Unspecified NEU2 +OMIM:605528 skos:exactMatch UMLS:C1417681 Unspecified NEU2 +OMIM:617510 skos:exactMatch HGNC_symbol:CATSPERE Unspecified CATSPERE +OMIM:617510 skos:exactMatch HGNC:28491 Unspecified CATSPERE +OMIM:617510 skos:exactMatch UMLS:C1823721 Unspecified CATSPERE +OMIM:617512 skos:exactMatch HGNC:13578 Unspecified ZNF318 +OMIM:617512 skos:exactMatch UMLS:C1422074 Unspecified ZNF318 +OMIM:617512 skos:exactMatch HGNC_symbol:ZNF318 Unspecified ZNF318 +OMIM:617511 skos:exactMatch UMLS:C2700596 Unspecified CATSPERZ +OMIM:617511 skos:exactMatch HGNC:19231 Unspecified CATSPERZ +OMIM:617511 skos:exactMatch HGNC_symbol:CATSPERZ Unspecified CATSPERZ +OMIM:617503 skos:exactMatch UMLS:C1824912 Unspecified DENND3 +OMIM:617503 skos:exactMatch HGNC_symbol:DENND3 Unspecified DENND3 +OMIM:617503 skos:exactMatch HGNC:29134 Unspecified DENND3 +OMIM:617502 skos:exactMatch HGNC:25601 Unspecified WDR41 +OMIM:617502 skos:exactMatch UMLS:C1538082 Unspecified WDR41 +OMIM:617502 skos:exactMatch HGNC_symbol:WDR41 Unspecified WDR41 +OMIM:617505 skos:exactMatch HGNC:28371 Unspecified TRAM1L1 +OMIM:617505 skos:exactMatch HGNC_symbol:TRAM1L1 Unspecified TRAM1L1 +OMIM:617505 skos:exactMatch UMLS:C1428697 Unspecified TRAM1L1 +OMIM:617504 skos:exactMatch UMLS:C1426838 Unspecified SIPA1L1 +OMIM:617504 skos:exactMatch HGNC_symbol:SIPA1L1 Unspecified SIPA1L1 +OMIM:617504 skos:exactMatch HGNC:20284 Unspecified SIPA1L1 +OMIM:617507 skos:exactMatch UMLS:C1850056 Unspecified peho-like syndrome +OMIM:617506 skos:exactMatch UMLS:C4479577 Unspecified noonan syndrome-like disorder with loose anagen hair 2 +OMIM:617509 skos:exactMatch HGNC_symbol:VWA8 Unspecified VWA8 +OMIM:617509 skos:exactMatch UMLS:C3542525 Unspecified VWA8 +OMIM:617509 skos:exactMatch HGNC:29071 Unspecified VWA8 +OMIM:617508 skos:exactMatch HGNC_symbol:ZNF598 Unspecified ZNF598 +OMIM:617508 skos:exactMatch HGNC:28079 Unspecified ZNF598 +OMIM:617508 skos:exactMatch UMLS:C1428666 Unspecified ZNF598 +OMIM:605532 skos:exactMatch UMLS:C1539797 Unspecified SMURF2 +OMIM:605532 skos:exactMatch HGNC_symbol:SMURF2 Unspecified SMURF2 +OMIM:605532 skos:exactMatch HGNC:16809 Unspecified SMURF2 +OMIM:605533 skos:exactMatch HGNC:7999 Unspecified NRG3 +OMIM:605533 skos:exactMatch UMLS:C1334903 Unspecified NRG3 +OMIM:605533 skos:exactMatch HGNC_symbol:NRG3 Unspecified NRG3 +OMIM:191120 skos:exactMatch UMLS:C1421228 Unspecified TUBAL1 +OMIM:605530 skos:exactMatch HGNC:20332 Unspecified UPF3A +OMIM:605530 skos:exactMatch HGNC_symbol:UPF3A Unspecified UPF3A +OMIM:605530 skos:exactMatch UMLS:C1426867 Unspecified UPF3A +OMIM:605514 skos:exactMatch HGNC:14674 Unspecified PCDH15 +OMIM:605514 skos:exactMatch HGNC_symbol:PCDH15 Unspecified PCDH15 +OMIM:605514 skos:exactMatch UMLS:C1422830 Unspecified PCDH15 +OMIM:605515 skos:exactMatch UMLS:C1414688 Unspecified FOXP1 +OMIM:605515 skos:exactMatch HGNC_symbol:FOXP1 Unspecified FOXP1 +OMIM:605515 skos:exactMatch HGNC:3823 Unspecified FOXP1 +OMIM:605512 skos:exactMatch HGNC:14415 Unspecified ELOVL4 +OMIM:605512 skos:exactMatch UMLS:C1422632 Unspecified ELOVL4 +OMIM:605512 skos:exactMatch HGNC_symbol:ELOVL4 Unspecified ELOVL4 +OMIM:605513 skos:exactMatch HGNC_symbol:MLANA Unspecified MLANA +OMIM:605513 skos:exactMatch HGNC:7124 Unspecified MLANA +OMIM:605513 skos:exactMatch UMLS:C1334510 Unspecified MLANA +OMIM:605518 skos:exactMatch UMLS:C1421944 Unspecified LPIN1 +OMIM:605518 skos:exactMatch HGNC:13345 Unspecified LPIN1 +OMIM:605518 skos:exactMatch HGNC_symbol:LPIN1 Unspecified LPIN1 +OMIM:605519 skos:exactMatch HGNC:14450 Unspecified LPIN2 +OMIM:605519 skos:exactMatch HGNC_symbol:LPIN2 Unspecified LPIN2 +OMIM:605519 skos:exactMatch UMLS:C1422658 Unspecified LPIN2 +OMIM:605516 skos:exactMatch HGNC_symbol:CDH23 Unspecified CDH23 +OMIM:605516 skos:exactMatch HGNC:13733 Unspecified CDH23 +OMIM:605516 skos:exactMatch UMLS:C1422171 Unspecified CDH23 +OMIM:605517 skos:exactMatch HGNC_symbol:B4GAT1 Unspecified B4GAT1 +OMIM:605517 skos:exactMatch HGNC:15685 Unspecified B4GAT1 +OMIM:605517 skos:exactMatch UMLS:C1423631 Unspecified B4GAT1 +OMIM:605517 skos:exactMatch UMLS:C3809042 Unspecified B4GAT1 +OMIM:617501 skos:exactMatch HGNC:15904 Unspecified KAT14 +OMIM:617501 skos:exactMatch HGNC_symbol:KAT14 Unspecified KAT14 +OMIM:617501 skos:exactMatch UMLS:C1423821 Unspecified KAT14 +OMIM:617500 skos:exactMatch UMLS:C2829000 Unspecified UCA1 +OMIM:617500 skos:exactMatch HGNC:37126 Unspecified UCA1 +OMIM:617500 skos:exactMatch HGNC_symbol:UCA1 Unspecified UCA1 +OMIM:191135 skos:exactMatch UMLS:C1421235 Unspecified TUBG1 +OMIM:191135 skos:exactMatch HGNC_symbol:TUBG1 Unspecified TUBG1 +OMIM:191135 skos:exactMatch HGNC:12417 Unspecified TUBG1 +OMIM:191130 skos:exactMatch HGNC:20778 Unspecified TUBB +OMIM:191130 skos:exactMatch UMLS:C4551592 Unspecified TUBB +OMIM:191130 skos:exactMatch HGNC_symbol:TUBB Unspecified TUBB +OMIM:191130 skos:exactMatch UMLS:C1421231 Unspecified TUBB +OMIM:191130 skos:exactMatch UMLS:C4014283 Unspecified TUBB +OMIM:605521 skos:exactMatch HGNC:11589 Unspecified TBPL1 +OMIM:605521 skos:exactMatch HGNC_symbol:TBPL1 Unspecified TBPL1 +OMIM:605521 skos:exactMatch UMLS:C1336594 Unspecified TBPL1 +OMIM:605522 skos:exactMatch HGNC:13243 Unspecified LMBR1 +OMIM:605522 skos:exactMatch HGNC_symbol:LMBR1 Unspecified LMBR1 +OMIM:605522 skos:exactMatch UMLS:C1825862 Unspecified LMBR1 +OMIM:605520 skos:exactMatch HGNC:14451 Unspecified LPIN3 +OMIM:605520 skos:exactMatch HGNC_symbol:LPIN3 Unspecified LPIN3 +OMIM:605520 skos:exactMatch UMLS:C1422659 Unspecified LPIN3 +OMIM:603049 skos:exactMatch HGNC:12436 Unspecified TXNL1 +OMIM:603049 skos:exactMatch UMLS:C1540138 Unspecified TXNL1 +OMIM:603049 skos:exactMatch HGNC_symbol:TXNL1 Unspecified TXNL1 +OMIM:603048 skos:exactMatch HGNC:4446 Unspecified GPAA1 +OMIM:603048 skos:exactMatch UMLS:C1415190 Unspecified GPAA1 +OMIM:603048 skos:exactMatch HGNC_symbol:GPAA1 Unspecified GPAA1 +OMIM:617691 skos:exactMatch UMLS:C4521563 Unspecified spinocerebellar ataxia 44 +OMIM:617690 skos:exactMatch UMLS:C4540141 Unspecified ovarian dysgenesis 5 +OMIM:615030 skos:exactMatch UMLS:C3539507 Unspecified spastic paraplegia 56, autosomal recessive +OMIM:617693 skos:exactMatch HGNC_symbol:VIT Unspecified VIT +OMIM:617693 skos:exactMatch HGNC:12697 Unspecified VIT +OMIM:617693 skos:exactMatch UMLS:C1421454 Unspecified VIT +OMIM:617692 skos:exactMatch HGNC_symbol:PRDM15 Unspecified PRDM15 +OMIM:617692 skos:exactMatch HGNC:13999 Unspecified PRDM15 +OMIM:617692 skos:exactMatch UMLS:C1422336 Unspecified PRDM15 +OMIM:615031 skos:exactMatch UMLS:C3542549 Unspecified neuropathy, hereditary sensory and autonomic, iia ix, with developmental delay +OMIM:615032 skos:exactMatch UMLS:C3554373 Unspecified autism, susceptibility to, 18 +OMIM:617695 skos:exactMatch UMLS:C4540164 Unspecified pontocerebellar hypoplasia, iia 11 +OMIM:617694 skos:exactMatch UMLS:C4540156 Unspecified al kaissi syndrome +OMIM:615033 skos:exactMatch UMLS:C3539495 Unspecified spastic paraplegia 54, autosomal recessive +OMIM:615034 skos:exactMatch UMLS:C3554374 Unspecified dystonia 24 +OMIM:617697 skos:exactMatch UMLS:C4540170 Unspecified LINC02747 +OMIM:617697 skos:exactMatch HGNC_symbol:LINC02747 Unspecified LINC02747 +OMIM:617697 skos:exactMatch HGNC:54266 Unspecified LINC02747 +OMIM:615035 skos:exactMatch UMLS:C3539506 Unspecified spastic paraplegia 55, autosomal recessive +OMIM:617696 skos:exactMatch HGNC:51144 Unspecified LINC01488 +OMIM:617696 skos:exactMatch HGNC_symbol:LINC01488 Unspecified LINC01488 +OMIM:617696 skos:exactMatch UMLS:C3891516 Unspecified LINC01488 +OMIM:617699 skos:exactMatch HGNC_symbol:GID4 Unspecified GID4 +OMIM:617699 skos:exactMatch HGNC:28453 Unspecified GID4 +OMIM:617699 skos:exactMatch UMLS:C3539395 Unspecified GID4 +OMIM:615036 skos:exactMatch HGNC_symbol:MIR410 Unspecified MIR410 +OMIM:615036 skos:exactMatch HGNC:32065 Unspecified MIR410 +OMIM:615036 skos:exactMatch UMLS:C1826018 Unspecified MIR410 +OMIM:615037 skos:exactMatch UMLS:C1826041 Unspecified MIR487B +OMIM:615037 skos:exactMatch HGNC:32533 Unspecified MIR487B +OMIM:615037 skos:exactMatch HGNC_symbol:MIR487B Unspecified MIR487B +OMIM:617698 skos:exactMatch UMLS:C4540171 Unspecified 3-methylglutaconic aciduria, iia 9 +OMIM:617698 skos:exactMatch ORPHA:505216 Unspecified 3-methylglutaconic aciduria, iia 9 +OMIM:615027 skos:exactMatch UMLS:C1539467 Unspecified SINHCAF +OMIM:615027 skos:exactMatch HGNC_symbol:SINHCAF Unspecified SINHCAF +OMIM:615027 skos:exactMatch HGNC:30702 Unspecified SINHCAF +OMIM:615028 skos:exactMatch UMLS:C3554367 Unspecified epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive +OMIM:617689 skos:exactMatch UMLS:C1824804 Unspecified CSDC2 +OMIM:617689 skos:exactMatch HGNC:30359 Unspecified CSDC2 +OMIM:617689 skos:exactMatch HGNC_symbol:CSDC2 Unspecified CSDC2 +OMIM:615029 skos:exactMatch HGNC_symbol:CBLN4 Unspecified CBLN4 +OMIM:615029 skos:exactMatch HGNC:16231 Unspecified CBLN4 +OMIM:615029 skos:exactMatch UMLS:C1539064 Unspecified CBLN4 +OMIM:603050 skos:exactMatch UMLS:C1864215 Unspecified ABI1 +OMIM:603050 skos:exactMatch HGNC_symbol:ABI1 Unspecified ABI1 +OMIM:603050 skos:exactMatch UMLS:C1335864 Unspecified ABI1 +OMIM:603050 skos:exactMatch HGNC:11320 Unspecified ABI1 +OMIM:603052 skos:exactMatch HGNC:2327 Unspecified CPSF4 +OMIM:603052 skos:exactMatch HGNC_symbol:CPSF4 Unspecified CPSF4 +OMIM:603052 skos:exactMatch UMLS:C1413687 Unspecified CPSF4 +OMIM:603051 skos:exactMatch HGNC:327 Unspecified AGPS +OMIM:603051 skos:exactMatch UMLS:C1412284 Unspecified AGPS +OMIM:603051 skos:exactMatch HGNC_symbol:AGPS Unspecified AGPS +OMIM:603054 skos:exactMatch HGNC_symbol:GREM1 Unspecified GREM1 +OMIM:603054 skos:exactMatch HGNC:2001 Unspecified GREM1 +OMIM:603054 skos:exactMatch UMLS:C1539614 Unspecified GREM1 +OMIM:603053 skos:exactMatch HGNC:4821 Unspecified HAT1 +OMIM:603053 skos:exactMatch HGNC_symbol:HAT1 Unspecified HAT1 +OMIM:603053 skos:exactMatch UMLS:C1333890 Unspecified HAT1 +OMIM:603056 skos:exactMatch HGNC_symbol:ORC4 Unspecified ORC4 +OMIM:603056 skos:exactMatch UMLS:C1335086 Unspecified ORC4 +OMIM:603056 skos:exactMatch HGNC:8490 Unspecified ORC4 +OMIM:603055 skos:exactMatch UMLS:C1366586 Unspecified SKIIP +OMIM:603055 skos:exactMatch HGNC:16696 Unspecified SKIIP +OMIM:603055 skos:exactMatch HGNC_symbol:SNW1 Unspecified SKIIP +OMIM:603058 skos:exactMatch HGNC_symbol:PCDHGB4 Unspecified PCDHGB4 +OMIM:603058 skos:exactMatch HGNC:8711 Unspecified PCDHGB4 +OMIM:603058 skos:exactMatch UMLS:C1418360 Unspecified PCDHGB4 +OMIM:603057 skos:exactMatch HGNC_symbol:DCHS1 Unspecified DCHS1 +OMIM:603057 skos:exactMatch HGNC:13681 Unspecified DCHS1 +OMIM:603057 skos:exactMatch UMLS:C1539223 Unspecified DCHS1 +OMIM:603038 skos:exactMatch HGNC_symbol:SPAG4 Unspecified SPAG4 +OMIM:603038 skos:exactMatch HGNC:11214 Unspecified SPAG4 +OMIM:603038 skos:exactMatch UMLS:C1420338 Unspecified SPAG4 +OMIM:603037 skos:exactMatch HGNC:6552 Unspecified LEFTY1 +OMIM:603037 skos:exactMatch HGNC_symbol:LEFTY1 Unspecified LEFTY1 +OMIM:603037 skos:exactMatch UMLS:C1537560 Unspecified LEFTY1 +OMIM:605699 skos:exactMatch HGNC_symbol:ULBP3 Unspecified ULBP3 +OMIM:605699 skos:exactMatch UMLS:C1423034 Unspecified ULBP3 +OMIM:605699 skos:exactMatch HGNC:14895 Unspecified ULBP3 +OMIM:603039 skos:exactMatch UMLS:C1417222 Unspecified MNT +OMIM:603039 skos:exactMatch HGNC:7188 Unspecified MNT +OMIM:603039 skos:exactMatch HGNC_symbol:MNT Unspecified MNT +OMIM:617680 skos:exactMatch UMLS:C1823129 Unspecified SSU72 +OMIM:617680 skos:exactMatch HGNC:25016 Unspecified SSU72 +OMIM:617680 skos:exactMatch HGNC_symbol:SSU72 Unspecified SSU72 +OMIM:617682 skos:exactMatch UMLS:C4540131 Unspecified pilarowski-bjornsson syndrome +OMIM:615020 skos:exactMatch HGNC_symbol:ELP6 Unspecified ELP6 +OMIM:615020 skos:exactMatch UMLS:C1823363 Unspecified ELP6 +OMIM:615020 skos:exactMatch HGNC:25976 Unspecified ELP6 +OMIM:617681 skos:exactMatch UMLS:C4540127 Unspecified blepharocheilodontic syndrome 2 +OMIM:617684 skos:exactMatch HGNC:26021 Unspecified LYAR +OMIM:617684 skos:exactMatch UMLS:C2239661 Unspecified LYAR +OMIM:617684 skos:exactMatch HGNC_symbol:LYAR Unspecified LYAR +OMIM:615021 skos:exactMatch UMLS:C3539121 Unspecified blood group, globoside system +OMIM:615022 skos:exactMatch UMLS:C3554348 Unspecified ichthyosis, congenital, autosomal recessive 7 +OMIM:617683 skos:exactMatch UMLS:C1825037 Unspecified EGFLAM +OMIM:617683 skos:exactMatch HGNC_symbol:EGFLAM Unspecified EGFLAM +OMIM:617683 skos:exactMatch HGNC:26810 Unspecified EGFLAM +OMIM:617686 skos:exactMatch UMLS:C4540135 Unspecified pituitary adenoma 3, multiple types +OMIM:615023 skos:exactMatch UMLS:C3554349 Unspecified ichthyosis, congenital, autosomal recessive 9 +OMIM:615024 skos:exactMatch UMLS:C3554355 Unspecified ichthyosis, congenital, autosomal recessive 10 +OMIM:617685 skos:exactMatch HGNC:15902 Unspecified CDH26 +OMIM:617685 skos:exactMatch HGNC_symbol:CDH26 Unspecified CDH26 +OMIM:617685 skos:exactMatch UMLS:C1423820 Unspecified CDH26 +OMIM:617688 skos:exactMatch UMLS:C2829992 Unspecified PARM1 +OMIM:617688 skos:exactMatch HGNC:24536 Unspecified PARM1 +OMIM:617688 skos:exactMatch HGNC_symbol:PARM1 Unspecified PARM1 +OMIM:615025 skos:exactMatch UMLS:C3554366 Unspecified charcot-marie-tooth disease, axonal, iia 2q +OMIM:615026 skos:exactMatch UMLS:C0035528 Unspecified riboflavin deficiency +OMIM:617687 skos:exactMatch UMLS:C1823244 Unspecified TBC1D23 +OMIM:617687 skos:exactMatch HGNC_symbol:TBC1D23 Unspecified TBC1D23 +OMIM:617687 skos:exactMatch HGNC:25622 Unspecified TBC1D23 +OMIM:617679 skos:exactMatch UMLS:C1537498 Unspecified KLHL20 +OMIM:617679 skos:exactMatch HGNC_symbol:KLHL20 Unspecified KLHL20 +OMIM:617679 skos:exactMatch HGNC:25056 Unspecified KLHL20 +OMIM:615016 skos:exactMatch UMLS:C1418036 Unspecified OR2J3 +OMIM:615016 skos:exactMatch HGNC_symbol:OR2J3 Unspecified OR2J3 +OMIM:615016 skos:exactMatch HGNC:8261 Unspecified OR2J3 +OMIM:617678 skos:exactMatch HGNC:45089 Unspecified PCAT2 +OMIM:617678 skos:exactMatch UMLS:C3812528 Unspecified PCAT2 +OMIM:617678 skos:exactMatch HGNC_symbol:PCAT2 Unspecified PCAT2 +OMIM:615017 skos:exactMatch HGNC_symbol:MIR139 Unspecified MIR139 +OMIM:615017 skos:exactMatch UMLS:C1537793 Unspecified MIR139 +OMIM:615017 skos:exactMatch HGNC:31526 Unspecified MIR139 +OMIM:615019 skos:exactMatch HGNC:30617 Unspecified ELP5 +OMIM:615019 skos:exactMatch UMLS:C1824473 Unspecified ELP5 +OMIM:615019 skos:exactMatch HGNC_symbol:ELP5 Unspecified ELP5 +OMIM:603041 skos:exactMatch UMLS:C4551995 Unspecified mitochondrial DNA depletion syndrome 1 (mngie type) +OMIM:603041 skos:exactMatch UMLS:C0872218 Unspecified mitochondrial DNA depletion syndrome 1 (mngie type) +OMIM:603041 skos:exactMatch ORPHA:298 Unspecified mitochondrial DNA depletion syndrome 1 (mngie type) +OMIM:603040 skos:exactMatch UMLS:C1864232 Unspecified tumor suppressor gene on chromosome 11 +OMIM:603043 skos:exactMatch UMLS:C1417858 Unspecified NSMAF +OMIM:603043 skos:exactMatch HGNC_symbol:NSMAF Unspecified NSMAF +OMIM:603043 skos:exactMatch HGNC:8017 Unspecified NSMAF +OMIM:603042 skos:exactMatch UMLS:C1420264 Unspecified SUMO2 +OMIM:603042 skos:exactMatch HGNC_symbol:SUMO2 Unspecified SUMO2 +OMIM:603042 skos:exactMatch HGNC:11125 Unspecified SUMO2 +OMIM:603044 skos:exactMatch HGNC:9046 Unspecified PLAGL1 +OMIM:603044 skos:exactMatch UMLS:C1335223 Unspecified PLAGL1 +OMIM:603044 skos:exactMatch HGNC_symbol:PLAGL1 Unspecified PLAGL1 +OMIM:603047 skos:exactMatch UMLS:C0004106 Unspecified astigmatism +OMIM:603046 skos:exactMatch HGNC_symbol:RNF139 Unspecified RNF139 +OMIM:603046 skos:exactMatch HGNC:17023 Unspecified RNF139 +OMIM:603046 skos:exactMatch UMLS:C1424693 Unspecified RNF139 +OMIM:603027 skos:exactMatch HGNC_symbol:FBP2 Unspecified FBP2 +OMIM:603027 skos:exactMatch HGNC:3607 Unspecified FBP2 +OMIM:603027 skos:exactMatch UMLS:C1414545 Unspecified FBP2 +OMIM:603026 skos:exactMatch UMLS:C5394450 Unspecified PLAG1 +OMIM:603026 skos:exactMatch UMLS:C1418629 Unspecified PLAG1 +OMIM:603026 skos:exactMatch HGNC:9045 Unspecified PLAG1 +OMIM:603026 skos:exactMatch HGNC_symbol:PLAG1 Unspecified PLAG1 +OMIM:603029 skos:exactMatch HGNC:11849 Unspecified TLR3 +OMIM:603029 skos:exactMatch UMLS:C1336635 Unspecified TLR3 +OMIM:603029 skos:exactMatch HGNC_symbol:TLR3 Unspecified TLR3 +OMIM:605688 skos:exactMatch HGNC:2319 Unspecified CPNE6 +OMIM:605688 skos:exactMatch HGNC_symbol:CPNE6 Unspecified CPNE6 +OMIM:605688 skos:exactMatch UMLS:C1413680 Unspecified CPNE6 +OMIM:603028 skos:exactMatch UMLS:C1834752 Unspecified TLR2 +OMIM:603028 skos:exactMatch UMLS:C1858438 Unspecified TLR2 +OMIM:603028 skos:exactMatch HGNC:11848 Unspecified TLR2 +OMIM:603028 skos:exactMatch UMLS:C1336634 Unspecified TLR2 +OMIM:603028 skos:exactMatch UMLS:C1968668 Unspecified TLR2 +OMIM:603028 skos:exactMatch HGNC_symbol:TLR2 Unspecified TLR2 +OMIM:605689 skos:exactMatch UMLS:C1332778 Unspecified CPNE7 +OMIM:605689 skos:exactMatch HGNC:2320 Unspecified CPNE7 +OMIM:605689 skos:exactMatch HGNC_symbol:CPNE7 Unspecified CPNE7 +OMIM:617671 skos:exactMatch UMLS:C4522164 Unspecified helix syndrome +OMIM:617670 skos:exactMatch UMLS:C1824426 Unspecified MEIOB +OMIM:617670 skos:exactMatch HGNC:28569 Unspecified MEIOB +OMIM:617670 skos:exactMatch HGNC_symbol:MEIOB Unspecified MEIOB +OMIM:615010 skos:exactMatch UMLS:C3539013 Unspecified aicardi-goutieres syndrome 6 +OMIM:617673 skos:exactMatch HGNC_symbol:SPATA22 Unspecified SPATA22 +OMIM:617673 skos:exactMatch UMLS:C1823093 Unspecified SPATA22 +OMIM:617673 skos:exactMatch HGNC:30705 Unspecified SPATA22 +OMIM:615011 skos:exactMatch UMLS:C3554344 Unspecified phosphohydroxylysinuria +OMIM:617672 skos:exactMatch UMLS:C4540086 Unspecified neurodegeneration, childhood-onset, with brain atrophy +OMIM:617675 skos:exactMatch ORPHA:502423 Unspecified myopathy, mitochondrial, and ataxia +OMIM:617675 skos:exactMatch UMLS:C4540096 Unspecified myopathy, mitochondrial, and ataxia +OMIM:615012 skos:exactMatch HGNC:4737 Unspecified HIST1H2AG +OMIM:615012 skos:exactMatch UMLS:C1415404 Unspecified HIST1H2AG +OMIM:615012 skos:exactMatch HGNC_symbol:H2AC11 Unspecified HIST1H2AG +OMIM:615013 skos:exactMatch UMLS:C1422138 Unspecified HIST1H2AH +OMIM:615013 skos:exactMatch HGNC:13671 Unspecified HIST1H2AH +OMIM:615013 skos:exactMatch HGNC_symbol:H2AC12 Unspecified HIST1H2AH +OMIM:617674 skos:exactMatch HGNC:10759 Unspecified SERP1 +OMIM:617674 skos:exactMatch HGNC_symbol:SERP1 Unspecified SERP1 +OMIM:617674 skos:exactMatch UMLS:C2239922 Unspecified SERP1 +OMIM:617677 skos:exactMatch UMLS:C4522264 Unspecified None +OMIM:615014 skos:exactMatch HGNC:20508 Unspecified HIST2H2AB +OMIM:615014 skos:exactMatch UMLS:C1426979 Unspecified HIST2H2AB +OMIM:615014 skos:exactMatch HGNC_symbol:H2AC21 Unspecified HIST2H2AB +OMIM:615015 skos:exactMatch HGNC_symbol:H2AW Unspecified HIST3H2A +OMIM:615015 skos:exactMatch HGNC:20507 Unspecified HIST3H2A +OMIM:615015 skos:exactMatch UMLS:C1426978 Unspecified HIST3H2A +OMIM:617676 skos:exactMatch HGNC_symbol:PSMD3 Unspecified PSMD3 +OMIM:617676 skos:exactMatch HGNC:9560 Unspecified PSMD3 +OMIM:617676 skos:exactMatch UMLS:C1419033 Unspecified PSMD3 +OMIM:617668 skos:exactMatch UMLS:C4540052 Unspecified encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +OMIM:615005 skos:exactMatch UMLS:C3554306 Unspecified epilepsy, nocturnal frontal lobe, 5 +OMIM:617667 skos:exactMatch ORPHA:2052 Unspecified fraser syndrome 3 +OMIM:617667 skos:exactMatch UMLS:C4540040 Unspecified fraser syndrome 3 +OMIM:615006 skos:exactMatch ORPHA:3451 Unspecified developmental and epileptic encephalopathy 15 +OMIM:615006 skos:exactMatch UMLS:C3554316 Unspecified developmental and epileptic encephalopathy 15 +OMIM:615007 skos:exactMatch UMLS:C3554321 Unspecified basal ganglia calcification, idiopathic, 4 +OMIM:617669 skos:exactMatch UMLS:C4540059 Unspecified encephalopathy, progressive, early-onset, with brain atrophy and spasticity +OMIM:615008 skos:exactMatch UMLS:C3554330 Unspecified nephrotic syndrome, iia 7 +OMIM:615008 skos:exactMatch UMLS:C3808620 Unspecified nephrotic syndrome, iia 7 +OMIM:615009 skos:exactMatch UMLS:C3554343 Unspecified schuurs-hoeijmakers syndrome +OMIM:605690 skos:exactMatch HGNC_symbol:BICRA Unspecified BICRA +OMIM:605690 skos:exactMatch UMLS:C1333679 Unspecified BICRA +OMIM:605690 skos:exactMatch HGNC:4332 Unspecified BICRA +OMIM:603030 skos:exactMatch HGNC:11850 Unspecified TLR4 +OMIM:603030 skos:exactMatch UMLS:C1336636 Unspecified TLR4 +OMIM:603030 skos:exactMatch HGNC_symbol:TLR4 Unspecified TLR4 +OMIM:603030 skos:exactMatch UMLS:C4310915 Unspecified TLR4 +OMIM:605693 skos:exactMatch HGNC_symbol:RAB30 Unspecified RAB30 +OMIM:605693 skos:exactMatch HGNC:9770 Unspecified RAB30 +OMIM:605693 skos:exactMatch UMLS:C1419199 Unspecified RAB30 +OMIM:605694 skos:exactMatch HGNC_symbol:RAB31 Unspecified RAB31 +OMIM:605694 skos:exactMatch HGNC:9771 Unspecified RAB31 +OMIM:605694 skos:exactMatch UMLS:C1419200 Unspecified RAB31 +OMIM:603032 skos:exactMatch UMLS:C1420281 Unspecified SNN +OMIM:603032 skos:exactMatch HGNC_symbol:SNN Unspecified SNN +OMIM:603032 skos:exactMatch HGNC:11149 Unspecified SNN +OMIM:605691 skos:exactMatch UMLS:C1333682 Unspecified NOP53 +OMIM:605691 skos:exactMatch HGNC_symbol:NOP53 Unspecified NOP53 +OMIM:605691 skos:exactMatch HGNC:4333 Unspecified NOP53 +OMIM:250100 skos:exactMatch UMLS:C0023522 Unspecified metachromatic leukodystrophy +OMIM:250100 skos:exactMatch UMLS:C1855255 Unspecified metachromatic leukodystrophy +OMIM:250100 skos:exactMatch UMLS:C0751278 Unspecified metachromatic leukodystrophy +OMIM:250100 skos:exactMatch UMLS:C0751279 Unspecified metachromatic leukodystrophy +OMIM:250100 skos:exactMatch UMLS:C0751276 Unspecified metachromatic leukodystrophy +OMIM:605692 skos:exactMatch HGNC:17994 Unspecified TRPM7 +OMIM:605692 skos:exactMatch HGNC_symbol:TRPM7 Unspecified TRPM7 +OMIM:605692 skos:exactMatch UMLS:C3468043 Unspecified TRPM7 +OMIM:605692 skos:exactMatch UMLS:C1425224 Unspecified TRPM7 +OMIM:603031 skos:exactMatch HGNC:11851 Unspecified TLR5 +OMIM:603031 skos:exactMatch UMLS:C1336637 Unspecified TLR5 +OMIM:603031 skos:exactMatch HGNC_symbol:TLR5 Unspecified TLR5 +OMIM:605697 skos:exactMatch HGNC_symbol:ULBP1 Unspecified ULBP1 +OMIM:605697 skos:exactMatch UMLS:C1423032 Unspecified ULBP1 +OMIM:605697 skos:exactMatch HGNC:14893 Unspecified ULBP1 +OMIM:603034 skos:exactMatch UMLS:C1864233 Unspecified myasthenic syndrome, congenital, 5 +OMIM:603033 skos:exactMatch HGNC:2226 Unspecified COLQ +OMIM:603033 skos:exactMatch UMLS:C1413603 Unspecified COLQ +OMIM:603033 skos:exactMatch HGNC_symbol:COLQ Unspecified COLQ +OMIM:605698 skos:exactMatch HGNC_symbol:ULBP2 Unspecified ULBP2 +OMIM:605698 skos:exactMatch HGNC:14894 Unspecified ULBP2 +OMIM:605698 skos:exactMatch UMLS:C1423033 Unspecified ULBP2 +OMIM:605695 skos:exactMatch HGNC_symbol:BLOC1S4 Unspecified BLOC1S4 +OMIM:605695 skos:exactMatch UMLS:C1539116 Unspecified BLOC1S4 +OMIM:605695 skos:exactMatch HGNC:24206 Unspecified BLOC1S4 +OMIM:605696 skos:exactMatch UMLS:C1416570 Unspecified KCNG2 +OMIM:605696 skos:exactMatch HGNC_symbol:KCNG2 Unspecified KCNG2 +OMIM:605696 skos:exactMatch HGNC:6249 Unspecified KCNG2 +OMIM:603035 skos:exactMatch HGNC_symbol:IL16 Unspecified IL16 +OMIM:603035 skos:exactMatch HGNC:5980 Unspecified IL16 +OMIM:603035 skos:exactMatch UMLS:C1334106 Unspecified IL16 +OMIM:605679 skos:exactMatch UMLS:C1424756 Unspecified IL26 +OMIM:605679 skos:exactMatch HGNC_symbol:IL26 Unspecified IL26 +OMIM:605679 skos:exactMatch HGNC:17119 Unspecified IL26 +OMIM:603016 skos:exactMatch HGNC_symbol:CDH19 Unspecified CDH19 +OMIM:603016 skos:exactMatch HGNC:1758 Unspecified CDH19 +OMIM:603016 skos:exactMatch UMLS:C1413276 Unspecified CDH19 +OMIM:603015 skos:exactMatch UMLS:C5394059 Unspecified TRRAP +OMIM:603015 skos:exactMatch HGNC:12347 Unspecified TRRAP +OMIM:603015 skos:exactMatch UMLS:C5193194 Unspecified TRRAP +OMIM:603015 skos:exactMatch UMLS:C5193193 Unspecified TRRAP +OMIM:603015 skos:exactMatch UMLS:C5193229 Unspecified TRRAP +OMIM:603015 skos:exactMatch HGNC_symbol:TRRAP Unspecified TRRAP +OMIM:603015 skos:exactMatch UMLS:C1336677 Unspecified TRRAP +OMIM:605677 skos:exactMatch UMLS:C1424354 Unspecified ACSL5 +OMIM:605677 skos:exactMatch HGNC:16526 Unspecified ACSL5 +OMIM:605677 skos:exactMatch HGNC_symbol:ACSL5 Unspecified ACSL5 +OMIM:603018 skos:exactMatch UMLS:C1412712 Unspecified B3GALT2 +OMIM:603018 skos:exactMatch HGNC_symbol:B3GALT2 Unspecified B3GALT2 +OMIM:603018 skos:exactMatch HGNC:917 Unspecified B3GALT2 +OMIM:603017 skos:exactMatch HGNC_symbol:CDH17 Unspecified CDH17 +OMIM:603017 skos:exactMatch HGNC:1756 Unspecified CDH17 +OMIM:603017 skos:exactMatch UMLS:C1413274 Unspecified CDH17 +OMIM:605678 skos:exactMatch HGNC:12744 Unspecified MLXIPL +OMIM:605678 skos:exactMatch UMLS:C1826259 Unspecified MLXIPL +OMIM:605678 skos:exactMatch HGNC_symbol:MLXIPL Unspecified MLXIPL +OMIM:603019 skos:exactMatch UMLS:C1413275 Unspecified CDH18 +OMIM:603019 skos:exactMatch HGNC_symbol:CDH18 Unspecified CDH18 +OMIM:603019 skos:exactMatch HGNC:1757 Unspecified CDH18 +OMIM:617660 skos:exactMatch UMLS:C4540004 Unspecified vertebral, cardiac, renal, and limb defects syndrome 1 +OMIM:617660 skos:exactMatch ORPHA:521438 Unspecified vertebral, cardiac, renal, and limb defects syndrome 1 +OMIM:617662 skos:exactMatch UMLS:C4540020 Unspecified joint laxity, short stature, and myopia +OMIM:617661 skos:exactMatch UMLS:C4540014 Unspecified vertebral, cardiac, renal, and limb defects syndrome 2 +OMIM:615000 skos:exactMatch UMLS:C2680469 Unspecified TECPR2 +OMIM:615000 skos:exactMatch HGNC:19957 Unspecified TECPR2 +OMIM:615000 skos:exactMatch HGNC_symbol:TECPR2 Unspecified TECPR2 +OMIM:615001 skos:exactMatch HGNC:29362 Unspecified ZC3H12C +OMIM:615001 skos:exactMatch HGNC_symbol:ZC3H12C Unspecified ZC3H12C +OMIM:615001 skos:exactMatch UMLS:C1823926 Unspecified ZC3H12C +OMIM:617664 skos:exactMatch UMLS:C4540029 Unspecified combined oxidative phosphorylation deficiency 32 +OMIM:615002 skos:exactMatch HGNC_symbol:CAMKK2 Unspecified CAMKK2 +OMIM:615002 skos:exactMatch HGNC:1470 Unspecified CAMKK2 +OMIM:615002 skos:exactMatch UMLS:C1413105 Unspecified CAMKK2 +OMIM:617663 skos:exactMatch UMLS:C4540024 Unspecified deafness, autosomal dominant 73 +OMIM:615003 skos:exactMatch HGNC_symbol:DDHD2 Unspecified DDHD2 +OMIM:615003 skos:exactMatch HGNC:29106 Unspecified DDHD2 +OMIM:615003 skos:exactMatch UMLS:C1428790 Unspecified DDHD2 +OMIM:617666 skos:exactMatch UMLS:C4540036 Unspecified fraser syndrome 2 +OMIM:617665 skos:exactMatch UMLS:C4540034 Unspecified developmental and epileptic encephalopathy 56 +OMIM:615004 skos:exactMatch HGNC_symbol:LRIT3 Unspecified LRIT3 +OMIM:615004 skos:exactMatch UMLS:C2239655 Unspecified LRIT3 +OMIM:615004 skos:exactMatch HGNC:24783 Unspecified LRIT3 +OMIM:617657 skos:exactMatch UMLS:C1425765 Unspecified PCNX3 +OMIM:617657 skos:exactMatch HGNC_symbol:PCNX3 Unspecified PCNX3 +OMIM:617657 skos:exactMatch HGNC:18760 Unspecified PCNX3 +OMIM:617656 skos:exactMatch HGNC:8736 Unspecified PCNX2 +OMIM:617656 skos:exactMatch HGNC_symbol:PCNX2 Unspecified PCNX2 +OMIM:617656 skos:exactMatch UMLS:C1418381 Unspecified PCNX2 +OMIM:617659 skos:exactMatch HGNC:37216 Unspecified LIPT2 +OMIM:617659 skos:exactMatch UMLS:C2829636 Unspecified LIPT2 +OMIM:617659 skos:exactMatch HGNC_symbol:LIPT2 Unspecified LIPT2 +OMIM:191290 skos:exactMatch HGNC:11782 Unspecified TH +OMIM:191290 skos:exactMatch UMLS:C1420718 Unspecified TH +OMIM:191290 skos:exactMatch HGNC_symbol:TH Unspecified TH +OMIM:617658 skos:exactMatch UMLS:C1426907 Unspecified SQOR +OMIM:617658 skos:exactMatch HGNC_symbol:SQOR Unspecified SQOR +OMIM:617658 skos:exactMatch HGNC:20390 Unspecified SQOR +OMIM:605682 skos:exactMatch HGNC_symbol:BAZ2A Unspecified BAZ2A +OMIM:605682 skos:exactMatch HGNC:962 Unspecified BAZ2A +OMIM:605682 skos:exactMatch UMLS:C1412743 Unspecified BAZ2A +OMIM:605683 skos:exactMatch HGNC_symbol:BAZ2B Unspecified BAZ2B +OMIM:605683 skos:exactMatch HGNC:963 Unspecified BAZ2B +OMIM:605683 skos:exactMatch UMLS:C1412744 Unspecified BAZ2B +OMIM:603021 skos:exactMatch UMLS:C1419696 Unspecified MRPS12 +OMIM:603021 skos:exactMatch HGNC_symbol:MRPS12 Unspecified MRPS12 +OMIM:603021 skos:exactMatch HGNC:10380 Unspecified MRPS12 +OMIM:605680 skos:exactMatch HGNC_symbol:BAZ1A Unspecified BAZ1A +OMIM:605680 skos:exactMatch HGNC:960 Unspecified BAZ1A +OMIM:605680 skos:exactMatch UMLS:C1412741 Unspecified BAZ1A +OMIM:603020 skos:exactMatch HGNC_symbol:AFG3L1P Unspecified AFG3L1P +OMIM:603020 skos:exactMatch HGNC:314 Unspecified AFG3L1P +OMIM:603020 skos:exactMatch UMLS:C1412273 Unspecified AFG3L1P +OMIM:605681 skos:exactMatch HGNC_symbol:BAZ1B Unspecified BAZ1B +OMIM:605681 skos:exactMatch HGNC:961 Unspecified BAZ1B +OMIM:605681 skos:exactMatch UMLS:C1412742 Unspecified BAZ1B +OMIM:603023 skos:exactMatch HGNC_symbol:IKZF1 Unspecified IKZF1 +OMIM:603023 skos:exactMatch UMLS:C1825588 Unspecified IKZF1 +OMIM:603023 skos:exactMatch UMLS:C1864273 Unspecified IKZF1 +OMIM:603023 skos:exactMatch HGNC:13176 Unspecified IKZF1 +OMIM:605686 skos:exactMatch HGNC_symbol:CADM1 Unspecified CADM1 +OMIM:605686 skos:exactMatch HGNC:5951 Unspecified CADM1 +OMIM:605686 skos:exactMatch UMLS:C1416373 Unspecified CADM1 +OMIM:603022 skos:exactMatch HGNC:3121 Unspecified E4F1 +OMIM:603022 skos:exactMatch UMLS:C1414230 Unspecified E4F1 +OMIM:603022 skos:exactMatch HGNC_symbol:E4F1 Unspecified E4F1 +OMIM:605687 skos:exactMatch HGNC_symbol:IL19 Unspecified IL19 +OMIM:605687 skos:exactMatch HGNC:5990 Unspecified IL19 +OMIM:605687 skos:exactMatch UMLS:C1334110 Unspecified IL19 +OMIM:605684 skos:exactMatch HGNC:10063 Unspecified TRIM34 +OMIM:605684 skos:exactMatch HGNC_symbol:TRIM34 Unspecified TRIM34 +OMIM:605684 skos:exactMatch UMLS:C1419421 Unspecified TRIM34 +OMIM:603025 skos:exactMatch UMLS:C1423544 Unspecified PICALM +OMIM:603025 skos:exactMatch UMLS:C1864272 Unspecified PICALM +OMIM:603025 skos:exactMatch HGNC:15514 Unspecified PICALM +OMIM:603025 skos:exactMatch HGNC_symbol:PICALM Unspecified PICALM +OMIM:603024 skos:exactMatch HGNC_symbol:ARID1A Unspecified ARID1A +OMIM:603024 skos:exactMatch HGNC:11110 Unspecified ARID1A +OMIM:603024 skos:exactMatch UMLS:C4310916 Unspecified ARID1A +OMIM:603024 skos:exactMatch UMLS:C1420251 Unspecified ARID1A +OMIM:603024 skos:exactMatch UMLS:C3553247 Unspecified ARID1A +OMIM:615070 skos:exactMatch UMLS:C1826169 Unspecified MIR590 +OMIM:615070 skos:exactMatch HGNC_symbol:MIR590 Unspecified MIR590 +OMIM:615070 skos:exactMatch HGNC:32846 Unspecified MIR590 +OMIM:615071 skos:exactMatch ORPHA:319671 Unspecified alazami syndrome +OMIM:615071 skos:exactMatch UMLS:C3554439 Unspecified alazami syndrome +OMIM:615072 skos:exactMatch UMLS:C3554446 Unspecified brachydactyly, iia a1, c +OMIM:615073 skos:exactMatch UMLS:C3554447 Unspecified dystonia 25 +OMIM:615074 skos:exactMatch ORPHA:363686 Unspecified gand syndrome +OMIM:615074 skos:exactMatch UMLS:C3554448 Unspecified gand syndrome +OMIM:615075 skos:exactMatch UMLS:C3554449 Unspecified neurodevelopmental disorder with spastic diplegia and visual defects +OMIM:311400 skos:exactMatch UMLS:C1412041 Unspecified paine syndrome +OMIM:615076 skos:exactMatch HGNC_symbol:MGME1 Unspecified MGME1 +OMIM:615076 skos:exactMatch UMLS:C1424082 Unspecified MGME1 +OMIM:615076 skos:exactMatch HGNC:16205 Unspecified MGME1 +OMIM:615077 skos:exactMatch HGNC_symbol:TBC1D30 Unspecified TBC1D30 +OMIM:615077 skos:exactMatch UMLS:C2240070 Unspecified TBC1D30 +OMIM:615077 skos:exactMatch HGNC:29164 Unspecified TBC1D30 +OMIM:615078 skos:exactMatch UMLS:C1539592 Unspecified GOLT1B +OMIM:615078 skos:exactMatch HGNC:20175 Unspecified GOLT1B +OMIM:615078 skos:exactMatch HGNC_symbol:GOLT1B Unspecified GOLT1B +OMIM:615079 skos:exactMatch UMLS:C3469622 Unspecified ASUN +OMIM:615079 skos:exactMatch HGNC_symbol:INTS13 Unspecified ASUN +OMIM:615079 skos:exactMatch HGNC:20174 Unspecified ASUN +OMIM:603090 skos:exactMatch HGNC:12515 Unspecified UCHL3 +OMIM:603090 skos:exactMatch UMLS:C1421311 Unspecified UCHL3 +OMIM:603090 skos:exactMatch HGNC_symbol:UCHL3 Unspecified UCHL3 +OMIM:603092 skos:exactMatch HGNC:3066 Unspecified DUSP11 +OMIM:603092 skos:exactMatch HGNC_symbol:DUSP11 Unspecified DUSP11 +OMIM:603092 skos:exactMatch UMLS:C1414182 Unspecified DUSP11 +OMIM:603091 skos:exactMatch UMLS:C1421389 Unspecified USP12 +OMIM:603091 skos:exactMatch HGNC:20485 Unspecified USP12 +OMIM:603091 skos:exactMatch HGNC_symbol:USP12 Unspecified USP12 +OMIM:603094 skos:exactMatch HGNC_symbol:B3GALNT1 Unspecified B3GALNT1 +OMIM:603094 skos:exactMatch UMLS:C1825854 Unspecified B3GALNT1 +OMIM:603094 skos:exactMatch HGNC:918 Unspecified B3GALNT1 +OMIM:249100 skos:exactMatch ORPHA:342 Unspecified familial mediterranean fever +OMIM:249100 skos:exactMatch UMLS:C5399837 Unspecified familial mediterranean fever +OMIM:249100 skos:exactMatch UMLS:C0031069 Unspecified familial mediterranean fever +OMIM:603093 skos:exactMatch UMLS:C1412711 Unspecified B3GALT1 +OMIM:603093 skos:exactMatch HGNC_symbol:B3GALT1 Unspecified B3GALT1 +OMIM:603093 skos:exactMatch HGNC:916 Unspecified B3GALT1 +OMIM:603095 skos:exactMatch UMLS:C1412714 Unspecified B3GALT4 +OMIM:603095 skos:exactMatch HGNC_symbol:B3GALT4 Unspecified B3GALT4 +OMIM:603095 skos:exactMatch HGNC:919 Unspecified B3GALT4 +OMIM:237100 skos:exactMatch UMLS:C0152436 Unspecified hymen, imperforate +OMIM:603098 skos:exactMatch UMLS:C1864199 Unspecified deafness, autosomal recessive 13 +OMIM:276710 skos:exactMatch UMLS:C0268623 Unspecified tyrosinemia, iia 3 +OMIM:276710 skos:exactMatch ORPHA:69723 Unspecified tyrosinemia, iia 3 +OMIM:603097 skos:exactMatch UMLS:C1412676 Unspecified ATP6V1C1 +OMIM:603097 skos:exactMatch HGNC_symbol:ATP6V1C1 Unspecified ATP6V1C1 +OMIM:603097 skos:exactMatch HGNC:856 Unspecified ATP6V1C1 +OMIM:603099 skos:exactMatch UMLS:C1412281 Unspecified AGPAT1 +OMIM:603099 skos:exactMatch HGNC_symbol:AGPAT1 Unspecified AGPAT1 +OMIM:603099 skos:exactMatch HGNC:324 Unspecified AGPAT1 +OMIM:615060 skos:exactMatch UMLS:C1425494 Unspecified SCGB1D1 +OMIM:615060 skos:exactMatch HGNC_symbol:SCGB1D1 Unspecified SCGB1D1 +OMIM:615060 skos:exactMatch HGNC:18395 Unspecified SCGB1D1 +OMIM:615061 skos:exactMatch UMLS:C1425495 Unspecified SCGB1D2 +OMIM:615061 skos:exactMatch HGNC_symbol:SCGB1D2 Unspecified SCGB1D2 +OMIM:615061 skos:exactMatch HGNC:18396 Unspecified SCGB1D2 +OMIM:615062 skos:exactMatch UMLS:C1822654 Unspecified SCGB1D4 +OMIM:615062 skos:exactMatch HGNC_symbol:SCGB1D4 Unspecified SCGB1D4 +OMIM:615062 skos:exactMatch HGNC:31748 Unspecified SCGB1D4 +OMIM:615063 skos:exactMatch UMLS:C3469679 Unspecified SCGB2B2 +OMIM:615063 skos:exactMatch HGNC:27616 Unspecified SCGB2B2 +OMIM:615063 skos:exactMatch HGNC_symbol:SCGB2B2 Unspecified SCGB2B2 +OMIM:615064 skos:exactMatch UMLS:C1426700 Unspecified SLC25A29 +OMIM:615064 skos:exactMatch HGNC_symbol:SLC25A29 Unspecified SLC25A29 +OMIM:615064 skos:exactMatch HGNC:20116 Unspecified SLC25A29 +OMIM:615065 skos:exactMatch UMLS:C3554415 Unspecified arthrogryposis, distal, iia 5d +OMIM:615066 skos:exactMatch UMLS:C3554428 Unspecified osteogenesis imperfecta, iia 14 +OMIM:132900 skos:exactMatch UMLS:C1851504 Unspecified aortic aneurysm, familial thoracic 4 +OMIM:615067 skos:exactMatch UMLS:C3540844 Unspecified ciliary dyskinesia, primary, 20 +OMIM:615068 skos:exactMatch HGNC:29331 Unspecified EPG5 +OMIM:615068 skos:exactMatch HGNC_symbol:EPG5 Unspecified EPG5 +OMIM:615068 skos:exactMatch UMLS:C3147174 Unspecified EPG5 +OMIM:615069 skos:exactMatch HGNC_symbol:H4-16 Unspecified HIST4H4 +OMIM:615069 skos:exactMatch HGNC:20510 Unspecified HIST4H4 +OMIM:615069 skos:exactMatch UMLS:C1426980 Unspecified HIST4H4 +OMIM:201170 skos:exactMatch UMLS:C1860119 Unspecified acrofacial dysostosis syndrome of rodriguez +OMIM:603081 skos:exactMatch UMLS:C1412252 Unspecified ADPRH +OMIM:603081 skos:exactMatch HGNC:269 Unspecified ADPRH +OMIM:603081 skos:exactMatch HGNC_symbol:ADPRH Unspecified ADPRH +OMIM:603080 skos:exactMatch HGNC_symbol:SLC6A12 Unspecified SLC6A12 +OMIM:603080 skos:exactMatch HGNC:11045 Unspecified SLC6A12 +OMIM:603080 skos:exactMatch UMLS:C1420209 Unspecified SLC6A12 +OMIM:603083 skos:exactMatch HGNC_symbol:HNRNPL Unspecified HNRNPL +OMIM:603083 skos:exactMatch HGNC:5045 Unspecified HNRNPL +OMIM:603083 skos:exactMatch UMLS:C1415646 Unspecified HNRNPL +OMIM:603085 skos:exactMatch HGNC_symbol:SLC31A1 Unspecified SLC31A1 +OMIM:603085 skos:exactMatch HGNC:11016 Unspecified SLC31A1 +OMIM:603085 skos:exactMatch UMLS:C1420182 Unspecified SLC31A1 +OMIM:603084 skos:exactMatch HGNC_symbol:DARS1 Unspecified DARS1 +OMIM:603084 skos:exactMatch UMLS:C1413909 Unspecified DARS1 +OMIM:603084 skos:exactMatch HGNC:2678 Unspecified DARS1 +OMIM:276700 skos:exactMatch ORPHA:882 Unspecified tyrosinemia, iia 1 +OMIM:276700 skos:exactMatch UMLS:C0268490 Unspecified tyrosinemia, iia 1 +OMIM:603086 skos:exactMatch UMLS:C1412564 Unspecified ART3 +OMIM:603086 skos:exactMatch HGNC_symbol:ART3 Unspecified ART3 +OMIM:603086 skos:exactMatch HGNC:725 Unspecified ART3 +OMIM:603089 skos:exactMatch HGNC_symbol:BAP1 Unspecified BAP1 +OMIM:603089 skos:exactMatch HGNC:950 Unspecified BAP1 +OMIM:603089 skos:exactMatch UMLS:C3280492 Unspecified BAP1 +OMIM:603089 skos:exactMatch UMLS:C1332380 Unspecified BAP1 +OMIM:603088 skos:exactMatch HGNC_symbol:SLC31A2 Unspecified SLC31A2 +OMIM:603088 skos:exactMatch HGNC:11017 Unspecified SLC31A2 +OMIM:603088 skos:exactMatch UMLS:C1420183 Unspecified SLC31A2 +OMIM:615050 skos:exactMatch UMLS:C1424801 Unspecified ASB5 +OMIM:615050 skos:exactMatch HGNC_symbol:ASB5 Unspecified ASB5 +OMIM:615050 skos:exactMatch HGNC:17180 Unspecified ASB5 +OMIM:615051 skos:exactMatch UMLS:C1424802 Unspecified ASB6 +OMIM:615051 skos:exactMatch HGNC_symbol:ASB6 Unspecified ASB6 +OMIM:615051 skos:exactMatch HGNC:17181 Unspecified ASB6 +OMIM:615052 skos:exactMatch UMLS:C1424803 Unspecified ASB7 +OMIM:615052 skos:exactMatch HGNC_symbol:ASB7 Unspecified ASB7 +OMIM:615052 skos:exactMatch HGNC:17182 Unspecified ASB7 +OMIM:615053 skos:exactMatch UMLS:C1424804 Unspecified ASB8 +OMIM:615053 skos:exactMatch HGNC_symbol:ASB8 Unspecified ASB8 +OMIM:615053 skos:exactMatch HGNC:17183 Unspecified ASB8 +OMIM:615054 skos:exactMatch UMLS:C1424806 Unspecified ASB10 +OMIM:615054 skos:exactMatch HGNC_symbol:ASB10 Unspecified ASB10 +OMIM:615054 skos:exactMatch HGNC:17185 Unspecified ASB10 +OMIM:615055 skos:exactMatch UMLS:C1426394 Unspecified ASB13 +OMIM:615055 skos:exactMatch HGNC_symbol:ASB13 Unspecified ASB13 +OMIM:615055 skos:exactMatch HGNC:19765 Unspecified ASB13 +OMIM:615056 skos:exactMatch UMLS:C1426397 Unspecified ASB16 +OMIM:615056 skos:exactMatch HGNC:19768 Unspecified ASB16 +OMIM:615056 skos:exactMatch HGNC_symbol:ASB16 Unspecified ASB16 +OMIM:615058 skos:exactMatch UMLS:C3554399 Unspecified night blindness, congenital stationary, iia 1f +OMIM:615058 skos:exactMatch ORPHA:215 Unspecified night blindness, congenital stationary, iia 1f +OMIM:615059 skos:exactMatch ORPHA:55654 Unspecified hypotrichosis 11 +OMIM:615059 skos:exactMatch UMLS:C3554409 Unspecified hypotrichosis 11 +OMIM:615049 skos:exactMatch HGNC:17327 Unspecified WAC +OMIM:615049 skos:exactMatch UMLS:C1424905 Unspecified WAC +OMIM:615049 skos:exactMatch HGNC_symbol:WAC Unspecified WAC +OMIM:603070 skos:exactMatch HGNC_symbol:RAD51AP1 Unspecified RAD51AP1 +OMIM:603070 skos:exactMatch HGNC:16956 Unspecified RAD51AP1 +OMIM:603070 skos:exactMatch UMLS:C1538778 Unspecified RAD51AP1 +OMIM:603072 skos:exactMatch HGNC:11393 Unspecified AURKA +OMIM:603072 skos:exactMatch UMLS:C1420466 Unspecified AURKA +OMIM:603072 skos:exactMatch HGNC_symbol:AURKA Unspecified AURKA +OMIM:201180 skos:exactMatch UMLS:C4551987 Unspecified acrofrontofacionasal dysostosis 1 +OMIM:603071 skos:exactMatch HGNC_symbol:GPR17 Unspecified GPR17 +OMIM:603071 skos:exactMatch UMLS:C1333691 Unspecified GPR17 +OMIM:603071 skos:exactMatch HGNC:4471 Unspecified GPR17 +OMIM:603074 skos:exactMatch HGNC:8576 Unspecified PAFAH1B3 +OMIM:603074 skos:exactMatch UMLS:C1418247 Unspecified PAFAH1B3 +OMIM:603074 skos:exactMatch HGNC_symbol:PAFAH1B3 Unspecified PAFAH1B3 +OMIM:603073 skos:exactMatch HGNC_symbol:ZIC2 Unspecified ZIC2 +OMIM:603073 skos:exactMatch HGNC:12873 Unspecified ZIC2 +OMIM:603073 skos:exactMatch UMLS:C1421582 Unspecified ZIC2 +OMIM:603076 skos:exactMatch HGNC:73 Unspecified ABCG1 +OMIM:603076 skos:exactMatch UMLS:C1412096 Unspecified ABCG1 +OMIM:603076 skos:exactMatch HGNC_symbol:ABCG1 Unspecified ABCG1 +OMIM:603075 skos:exactMatch UMLS:C1864205 Unspecified macular degeneration, age-related, 1 +OMIM:603078 skos:exactMatch HGNC:1925 Unspecified CHEK1 +OMIM:603078 skos:exactMatch UMLS:C1332753 Unspecified CHEK1 +OMIM:603078 skos:exactMatch HGNC_symbol:CHEK1 Unspecified CHEK1 +OMIM:603079 skos:exactMatch HGNC_symbol:CBX4 Unspecified CBX4 +OMIM:603079 skos:exactMatch HGNC:1554 Unspecified CBX4 +OMIM:603079 skos:exactMatch UMLS:C1413159 Unspecified CBX4 +OMIM:603059 skos:exactMatch HGNC_symbol:PCDHGA12 Unspecified PCDHGA12 +OMIM:603059 skos:exactMatch HGNC:8699 Unspecified PCDHGA12 +OMIM:603059 skos:exactMatch UMLS:C1418348 Unspecified PCDHGA12 +OMIM:615040 skos:exactMatch UMLS:C3808667 Unspecified episodic pain syndrome, familial, 1 +OMIM:615041 skos:exactMatch UMLS:C3554381 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 10 +OMIM:615042 skos:exactMatch UMLS:C3554385 Unspecified congenital disorder of glycosylation, iia iu +OMIM:615043 skos:exactMatch UMLS:C2680446 Unspecified spastic paraplegia 43, autosomal recessive +OMIM:615044 skos:exactMatch UMLS:C1415425 Unspecified HIST1H2BJ +OMIM:615044 skos:exactMatch HGNC_symbol:H2BC11 Unspecified HIST1H2BJ +OMIM:615044 skos:exactMatch HGNC:4761 Unspecified HIST1H2BJ +OMIM:615045 skos:exactMatch HGNC_symbol:H2BC12 Unspecified HIST1H2BK +OMIM:615045 skos:exactMatch HGNC:13954 Unspecified HIST1H2BK +OMIM:615045 skos:exactMatch UMLS:C1422300 Unspecified HIST1H2BK +OMIM:615046 skos:exactMatch HGNC_symbol:H2BU1 Unspecified HIST3H2BB +OMIM:615046 skos:exactMatch HGNC:20514 Unspecified HIST3H2BB +OMIM:615046 skos:exactMatch UMLS:C1426983 Unspecified HIST3H2BB +OMIM:615047 skos:exactMatch HGNC_symbol:TANC2 Unspecified TANC2 +OMIM:615047 skos:exactMatch UMLS:C1823227 Unspecified TANC2 +OMIM:615047 skos:exactMatch HGNC:30212 Unspecified TANC2 +OMIM:615047 skos:exactMatch UMLS:C5394589 Unspecified TANC2 +OMIM:615047 skos:exactMatch UMLS:C5394588 Unspecified TANC2 +OMIM:264700 skos:exactMatch ORPHA:289157 Unspecified vitamin d hydroxylation-deficient rickets, iia 1a +OMIM:264700 skos:exactMatch UMLS:C0268689 Unspecified vitamin d hydroxylation-deficient rickets, iia 1a +OMIM:615048 skos:exactMatch UMLS:C3554398 Unspecified spinal muscular atrophy, jokela iia +OMIM:615038 skos:exactMatch HGNC_symbol:ODAD1 Unspecified ODAD1 +OMIM:615038 skos:exactMatch UMLS:C1824643 Unspecified ODAD1 +OMIM:615038 skos:exactMatch HGNC:26560 Unspecified ODAD1 +OMIM:615039 skos:exactMatch UMLS:C1427123 Unspecified NDST4 +OMIM:615039 skos:exactMatch HGNC_symbol:NDST4 Unspecified NDST4 +OMIM:615039 skos:exactMatch HGNC:20779 Unspecified NDST4 +OMIM:603061 skos:exactMatch HGNC_symbol:ENSA Unspecified ENSA +OMIM:603061 skos:exactMatch UMLS:C1414411 Unspecified ENSA +OMIM:603061 skos:exactMatch HGNC:3360 Unspecified ENSA +OMIM:603060 skos:exactMatch HGNC_symbol:KIF1C Unspecified KIF1C +OMIM:603060 skos:exactMatch HGNC:6317 Unspecified KIF1C +OMIM:603060 skos:exactMatch UMLS:C1416632 Unspecified KIF1C +OMIM:603063 skos:exactMatch HGNC:1027 Unspecified BDH1 +OMIM:603063 skos:exactMatch HGNC_symbol:BDH1 Unspecified BDH1 +OMIM:603063 skos:exactMatch UMLS:C1826418 Unspecified BDH1 +OMIM:603062 skos:exactMatch HGNC_symbol:TGOLN2 Unspecified TGOLN2 +OMIM:603062 skos:exactMatch HGNC:15450 Unspecified TGOLN2 +OMIM:603062 skos:exactMatch UMLS:C1423496 Unspecified TGOLN2 +OMIM:603065 skos:exactMatch HGNC_symbol:NR1I2 Unspecified NR1I2 +OMIM:603065 skos:exactMatch HGNC:7968 Unspecified NR1I2 +OMIM:603065 skos:exactMatch UMLS:C1417826 Unspecified NR1I2 +OMIM:603064 skos:exactMatch HGNC_symbol:UGT2B11 Unspecified UGT2B11 +OMIM:603064 skos:exactMatch HGNC:12545 Unspecified UGT2B11 +OMIM:603064 skos:exactMatch UMLS:C1421337 Unspecified UGT2B11 +OMIM:603066 skos:exactMatch HGNC:9083 Unspecified PLOD3 +OMIM:603066 skos:exactMatch HGNC_symbol:PLOD3 Unspecified PLOD3 +OMIM:603066 skos:exactMatch UMLS:C1418653 Unspecified PLOD3 +OMIM:603069 skos:exactMatch HGNC_symbol:DUSP5 Unspecified DUSP5 +OMIM:603069 skos:exactMatch UMLS:C1414186 Unspecified DUSP5 +OMIM:603069 skos:exactMatch HGNC:3071 Unspecified DUSP5 +OMIM:603068 skos:exactMatch HGNC_symbol:DUSP2 Unspecified DUSP2 +OMIM:603068 skos:exactMatch UMLS:C1414184 Unspecified DUSP2 +OMIM:603068 skos:exactMatch HGNC:3068 Unspecified DUSP2 +OMIM:156900 skos:exactMatch UMLS:C1834918 Unspecified microphthalmia, isolated, with corectopia +OMIM:203780 skos:exactMatch UMLS:C4746745 Unspecified alport syndrome 2, autosomal recessive +OMIM:252700 skos:exactMatch UMLS:C0220752 Unspecified mucopolysaccharidoses, unclassified types +OMIM:213100 skos:exactMatch UMLS:C1859299 Unspecified +OMIM:239710 skos:exactMatch UMLS:C1855904 Unspecified acrofrontofacionasal dysostosis 2 +OMIM:239711 skos:exactMatch UMLS:C1855903 Unspecified hypertelorism and tetralogy of fallot +OMIM:615090 skos:exactMatch UMLS:C3541708 Unspecified IFNL4 +OMIM:615090 skos:exactMatch HGNC_symbol:IFNL4 Unspecified IFNL4 +OMIM:615090 skos:exactMatch HGNC:44480 Unspecified IFNL4 +OMIM:615091 skos:exactMatch UMLS:C3554495 Unspecified autism, susceptibility to, 19 +OMIM:168900 skos:exactMatch UMLS:C0008475 Unspecified patella, chondromalacia of +OMIM:615092 skos:exactMatch UMLS:C3554496 Unspecified left ventricular noncompaction 7 +OMIM:615093 skos:exactMatch HGNC:24225 Unspecified LY6K +OMIM:615093 skos:exactMatch HGNC_symbol:LY6K Unspecified LY6K +OMIM:615093 skos:exactMatch UMLS:C1537625 Unspecified LY6K +OMIM:615094 skos:exactMatch HGNC:26715 Unspecified PROX2 +OMIM:615094 skos:exactMatch UMLS:C2239845 Unspecified PROX2 +OMIM:615094 skos:exactMatch HGNC_symbol:PROX2 Unspecified PROX2 +OMIM:615095 skos:exactMatch ORPHA:329228 Unspecified microcephaly 10, primary, autosomal recessive +OMIM:615095 skos:exactMatch UMLS:C3554499 Unspecified microcephaly 10, primary, autosomal recessive +OMIM:615096 skos:exactMatch HGNC_symbol:MIR217 Unspecified MIR217 +OMIM:615096 skos:exactMatch UMLS:C1537853 Unspecified MIR217 +OMIM:615096 skos:exactMatch HGNC:31594 Unspecified MIR217 +OMIM:615097 skos:exactMatch HGNC_symbol:SLC6A13 Unspecified SLC6A13 +OMIM:615097 skos:exactMatch HGNC:11046 Unspecified SLC6A13 +OMIM:615097 skos:exactMatch UMLS:C1420210 Unspecified SLC6A13 +OMIM:615098 skos:exactMatch HGNC_symbol:TTC28 Unspecified TTC28 +OMIM:615098 skos:exactMatch HGNC:29179 Unspecified TTC28 +OMIM:615098 skos:exactMatch UMLS:C1823532 Unspecified TTC28 +OMIM:615099 skos:exactMatch HGNC:26727 Unspecified ERFE +OMIM:615099 skos:exactMatch UMLS:C2239422 Unspecified ERFE +OMIM:615099 skos:exactMatch HGNC_symbol:ERFE Unspecified ERFE +OMIM:225100 skos:exactMatch UMLS:C3541474 Unspecified ectopia lentis 2, isolated, autosomal recessive +OMIM:615080 skos:exactMatch UMLS:C3554452 Unspecified alzheimer disease 17 +OMIM:615081 skos:exactMatch UMLS:C3554453 Unspecified spermatogenic failure 11 +OMIM:615082 skos:exactMatch UMLS:C3554456 Unspecified c3hex, ability to smell +OMIM:615083 skos:exactMatch UMLS:C3554460 Unspecified colorectal cancer, susceptibility to, 12 +OMIM:615083 skos:exactMatch ORPHA:447877 Unspecified colorectal cancer, susceptibility to, 12 +OMIM:615083 skos:exactMatch ORPHA:220460 Unspecified colorectal cancer, susceptibility to, 12 +OMIM:615084 skos:exactMatch UMLS:C3554462 Unspecified mitochondrial DNA depletion syndrome 11 +OMIM:615085 skos:exactMatch UMLS:C3554478 Unspecified osteopetrosis, autosomal recessive 8 +OMIM:615086 skos:exactMatch HGNC:26522 Unspecified HARBI1 +OMIM:615086 skos:exactMatch UMLS:C1824343 Unspecified HARBI1 +OMIM:615086 skos:exactMatch HGNC_symbol:HARBI1 Unspecified HARBI1 +OMIM:615088 skos:exactMatch HGNC_symbol:ATG13 Unspecified ATG13 +OMIM:615088 skos:exactMatch UMLS:C3146638 Unspecified ATG13 +OMIM:615088 skos:exactMatch HGNC:29091 Unspecified ATG13 +OMIM:130300 skos:exactMatch UMLS:C1851756 Unspecified electroencephalographic peculiarity: fronto-precentral beta wave groups +OMIM:615089 skos:exactMatch HGNC:25679 Unspecified ATG101 +OMIM:615089 skos:exactMatch HGNC_symbol:ATG101 Unspecified ATG101 +OMIM:615089 skos:exactMatch UMLS:C1824365 Unspecified ATG101 +OMIM:142309 skos:exactMatch UMLS:C1840647 Unspecified hemoglobin--variants for which the chain carrying the mutation 1s unknown or uncertain +OMIM:203740 skos:exactMatch UMLS:C2752074 Unspecified oxoglutarate dehydrogenase deficiency +OMIM:215720 skos:exactMatch UMLS:C1859084 Unspecified citrulline transport defect +OMIM:132990 skos:exactMatch UMLS:C1851503 Unspecified erythema nodosum, familial +OMIM:203750 skos:exactMatch UMLS:C1536500 Unspecified alpha-methylacetoacetic aciduria +OMIM:142310 skos:exactMatch UMLS:C1415489 Unspecified HBZ +OMIM:142310 skos:exactMatch HGNC_symbol:HBZ Unspecified HBZ +OMIM:142310 skos:exactMatch HGNC:4835 Unspecified HBZ +OMIM:203760 skos:exactMatch UMLS:C1859850 Unspecified alpha-2-deficient collagen disease +OMIM:201100 skos:exactMatch UMLS:C0221036 Unspecified acrodermatitis enteropathica, zinc-deficiency iia +OMIM:154300 skos:exactMatch UMLS:C1835159 Unspecified malocclusion due to protuberant upper front teeth +OMIM:132890 skos:exactMatch UMLS:C1417833 Unspecified NR2F1 +OMIM:132890 skos:exactMatch HGNC_symbol:NR2F1 Unspecified NR2F1 +OMIM:132890 skos:exactMatch HGNC:7975 Unspecified NR2F1 +OMIM:168840 skos:exactMatch UMLS:C1418868 Unspecified PRB3 +OMIM:168840 skos:exactMatch HGNC_symbol:PRB3 Unspecified PRB3 +OMIM:168840 skos:exactMatch HGNC:9339 Unspecified PRB3 +OMIM:142210 skos:exactMatch HGNC:4717 Unspecified HIST1H1D +OMIM:142210 skos:exactMatch HGNC_symbol:H1-3 Unspecified HIST1H1D +OMIM:142210 skos:exactMatch UMLS:C1415387 Unspecified HIST1H1D +OMIM:156850 skos:exactMatch UMLS:C1834919 Unspecified microphthalmia, isolated, with cataract 1 +OMIM:168830 skos:exactMatch UMLS:C3149707 Unspecified passovoy factor defect +OMIM:203700 skos:exactMatch UMLS:C0205710 Unspecified mitochondrial DNA depletion syndrome 4a (alpers type) +OMIM:142220 skos:exactMatch HGNC:4718 Unspecified HIST1H1E +OMIM:142220 skos:exactMatch HGNC_symbol:H1-4 Unspecified HIST1H1E +OMIM:142220 skos:exactMatch UMLS:C1415388 Unspecified HIST1H1E +OMIM:154200 skos:exactMatch UMLS:C5394553 Unspecified MDH1 +OMIM:154200 skos:exactMatch HGNC:6970 Unspecified MDH1 +OMIM:154200 skos:exactMatch UMLS:C1417087 Unspecified MDH1 +OMIM:154200 skos:exactMatch HGNC_symbol:MDH1 Unspecified MDH1 +OMIM:166200 skos:exactMatch UMLS:C0023931 Unspecified osteogenesis imperfecta, iia 1 +OMIM:168860 skos:exactMatch UMLS:C1868577 Unspecified patella aplasia-hypoplasia +OMIM:117360 skos:exactMatch UMLS:C1861732 Unspecified spinocerebellar ataxia 29 +OMIM:142230 skos:exactMatch UMLS:C1332710 Unspecified CD34 +OMIM:142230 skos:exactMatch HGNC_symbol:CD34 Unspecified CD34 +OMIM:142230 skos:exactMatch HGNC:1662 Unspecified CD34 +OMIM:181800 skos:exactMatch UMLS:C2700406 Unspecified scoliosis, isolated, susceptibility to, 1 +OMIM:142240 skos:exactMatch HGNC:4833 Unspecified HBQ1 +OMIM:142240 skos:exactMatch UMLS:C1415487 Unspecified HBQ1 +OMIM:142240 skos:exactMatch HGNC_symbol:HBQ1 Unspecified HBQ1 +OMIM:215700 skos:exactMatch UMLS:C4721769 Unspecified citrullinemia, classic +OMIM:168885 skos:exactMatch UMLS:C1868576 Unspecified paroxysmal tonic upgaze, benign childhood, with ataxia +OMIM:166220 skos:exactMatch UMLS:C0268363 Unspecified osteogenesis imperfecta, iia 4 +OMIM:142250 skos:exactMatch HGNC:4832 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C0019025 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4015968 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C1415486 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285097 Unspecified HBG2 +OMIM:142250 skos:exactMatch HGNC_symbol:HBG2 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4016200 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4016201 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4016202 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4016203 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4016204 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891102 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891100 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891101 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285230 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891087 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891088 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891085 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891086 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891083 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891084 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891081 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891082 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891080 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891089 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891099 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891097 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891098 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891095 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891096 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891093 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891094 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891091 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891092 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3891090 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285227 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285228 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285225 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285226 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285224 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285229 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285104 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285105 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4285103 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C4310970 Unspecified HBG2 +OMIM:142250 skos:exactMatch UMLS:C3151421 Unspecified HBG2 +OMIM:120980 skos:exactMatch UMLS:C1366562 Unspecified ITGAM +OMIM:120980 skos:exactMatch HGNC_symbol:ITGAM Unspecified ITGAM +OMIM:120980 skos:exactMatch HGNC:6149 Unspecified ITGAM +OMIM:117340 skos:exactMatch HGNC_symbol:CDR2 Unspecified CDR2 +OMIM:117340 skos:exactMatch HGNC:1799 Unspecified CDR2 +OMIM:117340 skos:exactMatch UMLS:C1413296 Unspecified CDR2 +OMIM:154235 skos:exactMatch HGNC:6816 Unspecified MAK +OMIM:154235 skos:exactMatch UMLS:C1416988 Unspecified MAK +OMIM:154235 skos:exactMatch HGNC_symbol:MAK Unspecified MAK +OMIM:178200 skos:exactMatch UMLS:C1867439 Unspecified pterygium, antecubital +OMIM:154230 skos:exactMatch UMLS:C2752149 Unspecified 46,xy sex reversal 4 +OMIM:166210 skos:exactMatch UMLS:C0268358 Unspecified osteogenesis imperfecta, iia 2 +OMIM:120970 skos:exactMatch UMLS:C3489532 Unspecified cone-rod dystrophy 2 +OMIM:120960 skos:exactMatch HGNC_symbol:C8B Unspecified C8B +OMIM:120960 skos:exactMatch HGNC:1353 Unspecified C8B +OMIM:120960 skos:exactMatch UMLS:C1413024 Unspecified C8B +OMIM:154250 skos:exactMatch HGNC_symbol:ME1 Unspecified ME1 +OMIM:154250 skos:exactMatch UMLS:C1417092 Unspecified ME1 +OMIM:154250 skos:exactMatch HGNC:6983 Unspecified ME1 +OMIM:117300 skos:exactMatch UMLS:C1861735 Unspecified cerebral amyloid angiopathy, itm2b-related, 2 +OMIM:166230 skos:exactMatch UMLS:C1833748 Unspecified osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures +OMIM:168890 skos:exactMatch HGNC:9704 Unspecified PVALB +OMIM:168890 skos:exactMatch UMLS:C1419140 Unspecified PVALB +OMIM:168890 skos:exactMatch HGNC_symbol:PVALB Unspecified PVALB +OMIM:142290 skos:exactMatch HGNC:5171 Unspecified HPX +OMIM:142290 skos:exactMatch UMLS:C1415712 Unspecified HPX +OMIM:142290 skos:exactMatch HGNC_symbol:HPX Unspecified HPX +OMIM:120950 skos:exactMatch HGNC_symbol:C8A Unspecified C8A +OMIM:120950 skos:exactMatch HGNC:1352 Unspecified C8A +OMIM:120950 skos:exactMatch UMLS:C1413023 Unspecified C8A +OMIM:154280 skos:exactMatch UMLS:C1419807 Unspecified SAI1 +OMIM:605624 skos:exactMatch HGNC:689 Unspecified ARIH1 +OMIM:605624 skos:exactMatch HGNC_symbol:ARIH1 Unspecified ARIH1 +OMIM:605624 skos:exactMatch UMLS:C1412533 Unspecified ARIH1 +OMIM:605625 skos:exactMatch HGNC:7563 Unspecified MYEOV +OMIM:605625 skos:exactMatch HGNC_symbol:MYEOV Unspecified MYEOV +OMIM:605625 skos:exactMatch UMLS:C1417531 Unspecified MYEOV +OMIM:605622 skos:exactMatch HGNC:8657 Unspecified PCDH12 +OMIM:605622 skos:exactMatch HGNC_symbol:PCDH12 Unspecified PCDH12 +OMIM:605622 skos:exactMatch UMLS:C1418307 Unspecified PCDH12 +OMIM:605623 skos:exactMatch HGNC:7109 Unspecified MKLN1 +OMIM:605623 skos:exactMatch HGNC_symbol:MKLN1 Unspecified MKLN1 +OMIM:605623 skos:exactMatch UMLS:C1417175 Unspecified MKLN1 +OMIM:605628 skos:exactMatch HGNC_symbol:HTATIP2 Unspecified HTATIP2 +OMIM:605628 skos:exactMatch HGNC:16637 Unspecified HTATIP2 +OMIM:605628 skos:exactMatch UMLS:C1333930 Unspecified HTATIP2 +OMIM:107970 skos:exactMatch ORPHA:3403 Unspecified arrhythmogenic right ventricular dysplasia, familial, 1 +OMIM:107970 skos:exactMatch UMLS:C1862511 Unspecified arrhythmogenic right ventricular dysplasia, familial, 1 +OMIM:107970 skos:exactMatch ORPHA:293888 Unspecified arrhythmogenic right ventricular dysplasia, familial, 1 +OMIM:107970 skos:exactMatch ORPHA:293899 Unspecified arrhythmogenic right ventricular dysplasia, familial, 1 +OMIM:107970 skos:exactMatch ORPHA:293910 Unspecified arrhythmogenic right ventricular dysplasia, familial, 1 +OMIM:107970 skos:exactMatch ORPHA:217656 Unspecified arrhythmogenic right ventricular dysplasia, familial, 1 +OMIM:605629 skos:exactMatch HGNC_symbol:CIT Unspecified CIT +OMIM:605629 skos:exactMatch UMLS:C1413428 Unspecified CIT +OMIM:605629 skos:exactMatch HGNC:1985 Unspecified CIT +OMIM:605626 skos:exactMatch HGNC:13915 Unspecified ERVK-6 +OMIM:605626 skos:exactMatch UMLS:C1422267 Unspecified ERVK-6 +OMIM:605626 skos:exactMatch HGNC_symbol:ERVK-6 Unspecified ERVK-6 +OMIM:605627 skos:exactMatch UMLS:C1854108 Unspecified cerebrooculonasal syndrome +OMIM:166260 skos:exactMatch UMLS:C1833736 Unspecified gnathodiaphyseal dysplasia +OMIM:617611 skos:exactMatch HGNC:25483 Unspecified PIMREG +OMIM:617611 skos:exactMatch HGNC_symbol:PIMREG Unspecified PIMREG +OMIM:617611 skos:exactMatch UMLS:C1825121 Unspecified PIMREG +OMIM:617610 skos:exactMatch UMLS:C4539903 Unspecified polycystic kidney disease 5 +OMIM:617602 skos:exactMatch UMLS:C4539857 Unspecified congenital heart defects and skeletal malformations syndrome +OMIM:617601 skos:exactMatch UMLS:C4539851 Unspecified mental retardation, autosomal dominant 46 +OMIM:617604 skos:exactMatch UMLS:C4539873 Unspecified microcephaly, short stature, and limb abnormalities +OMIM:617603 skos:exactMatch HGNC:21539 Unspecified RBM24 +OMIM:617603 skos:exactMatch HGNC_symbol:RBM24 Unspecified RBM24 +OMIM:617603 skos:exactMatch UMLS:C1538790 Unspecified RBM24 +OMIM:617606 skos:exactMatch UMLS:C4539886 Unspecified deafness, autosomal dominant 72 +OMIM:617605 skos:exactMatch UMLS:C4539881 Unspecified deafness, autosomal dominant 71 +OMIM:617608 skos:exactMatch HGNC:17574 Unspecified ALPK3 +OMIM:617608 skos:exactMatch HGNC_symbol:ALPK3 Unspecified ALPK3 +OMIM:617608 skos:exactMatch UMLS:C1538267 Unspecified ALPK3 +OMIM:617607 skos:exactMatch UMLS:C4539891 Unspecified amelogenesis imperfecta, iia 3b +OMIM:120940 skos:exactMatch HGNC:1358 Unspecified C9 +OMIM:120940 skos:exactMatch UMLS:C1413029 Unspecified C9 +OMIM:120940 skos:exactMatch HGNC_symbol:C9 Unspecified C9 +OMIM:617609 skos:exactMatch UMLS:C4539896 Unspecified nephrotic syndrome, iia 15 +OMIM:154276 skos:exactMatch UMLS:C1835160 Unspecified malignant hyperthermia, susceptibility to, 3 +OMIM:154275 skos:exactMatch UMLS:C1835161 Unspecified malignant hyperthermia, susceptibility to, 2 +OMIM:105300 skos:exactMatch UMLS:C1862956 Unspecified amyotrophic dystonic paraplegia +OMIM:605631 skos:exactMatch HGNC_symbol:NAPSA Unspecified NAPSA +OMIM:605631 skos:exactMatch HGNC:13395 Unspecified NAPSA +OMIM:605631 skos:exactMatch UMLS:C1538038 Unspecified NAPSA +OMIM:605632 skos:exactMatch HGNC_symbol:SLC35A3 Unspecified SLC35A3 +OMIM:605632 skos:exactMatch HGNC:11023 Unspecified SLC35A3 +OMIM:605632 skos:exactMatch UMLS:C1420189 Unspecified SLC35A3 +OMIM:154270 skos:exactMatch HGNC_symbol:ME2 Unspecified ME2 +OMIM:154270 skos:exactMatch UMLS:C1417093 Unspecified ME2 +OMIM:154270 skos:exactMatch HGNC:6984 Unspecified ME2 +OMIM:605630 skos:exactMatch HGNC_symbol:PLA2G2D Unspecified PLA2G2D +OMIM:605630 skos:exactMatch UMLS:C1418619 Unspecified PLA2G2D +OMIM:605630 skos:exactMatch HGNC:9033 Unspecified PLA2G2D +OMIM:605613 skos:exactMatch UMLS:C1825475 Unspecified HIP1R +OMIM:605613 skos:exactMatch HGNC:18415 Unspecified HIP1R +OMIM:605613 skos:exactMatch HGNC_symbol:HIP1R Unspecified HIP1R +OMIM:605614 skos:exactMatch UMLS:C1415018 Unspecified GCN1 +OMIM:605614 skos:exactMatch HGNC_symbol:GCN1 Unspecified GCN1 +OMIM:605614 skos:exactMatch HGNC:4199 Unspecified GCN1 +OMIM:605611 skos:exactMatch HGNC:10826 Unspecified SH3BP4 +OMIM:605611 skos:exactMatch HGNC_symbol:SH3BP4 Unspecified SH3BP4 +OMIM:605611 skos:exactMatch UMLS:C1420023 Unspecified SH3BP4 +OMIM:605612 skos:exactMatch UMLS:C1420024 Unspecified SH3BP5 +OMIM:605612 skos:exactMatch HGNC:10827 Unspecified SH3BP5 +OMIM:605612 skos:exactMatch HGNC_symbol:SH3BP5 Unspecified SH3BP5 +OMIM:605618 skos:exactMatch UMLS:C1854119 Unspecified tetralogy of fallot syndrome, autosomal recessive +OMIM:605615 skos:exactMatch HGNC:690 Unspecified ARIH2 +OMIM:605615 skos:exactMatch HGNC_symbol:ARIH2 Unspecified ARIH2 +OMIM:605615 skos:exactMatch UMLS:C1412534 Unspecified ARIH2 +OMIM:605616 skos:exactMatch UMLS:C1429013 Unspecified SLC6A20 +OMIM:605616 skos:exactMatch HGNC:30927 Unspecified SLC6A20 +OMIM:605616 skos:exactMatch HGNC_symbol:SLC6A20 Unspecified SLC6A20 +OMIM:605619 skos:exactMatch UMLS:C1416403 Unspecified IL20 +OMIM:605619 skos:exactMatch HGNC:6002 Unspecified IL20 +OMIM:605619 skos:exactMatch HGNC_symbol:IL20 Unspecified IL20 +OMIM:617600 skos:exactMatch UMLS:C4539848 Unspecified mental retardation, autosomal dominant 45 +OMIM:311450 skos:exactMatch UMLS:C0796110 Unspecified pallister w syndrome +OMIM:166250 skos:exactMatch UMLS:C0432283 Unspecified osteoglophonic dysplasia +OMIM:605620 skos:exactMatch HGNC_symbol:IL20RA Unspecified IL20RA +OMIM:605620 skos:exactMatch HGNC:6003 Unspecified IL20RA +OMIM:605620 skos:exactMatch UMLS:C1416404 Unspecified IL20RA +OMIM:605621 skos:exactMatch HGNC_symbol:IL20RB Unspecified IL20RB +OMIM:605621 skos:exactMatch HGNC:6004 Unspecified IL20RB +OMIM:605621 skos:exactMatch UMLS:C1416405 Unspecified IL20RB +OMIM:120930 skos:exactMatch HGNC_symbol:C8G Unspecified C8G +OMIM:120930 skos:exactMatch HGNC:1354 Unspecified C8G +OMIM:120930 skos:exactMatch UMLS:C1413025 Unspecified C8G +OMIM:605602 skos:exactMatch HGNC_symbol:MYOZ2 Unspecified MYOZ2 +OMIM:605602 skos:exactMatch HGNC:1330 Unspecified MYOZ2 +OMIM:605602 skos:exactMatch UMLS:C1413006 Unspecified MYOZ2 +OMIM:605603 skos:exactMatch HGNC_symbol:MYOZ1 Unspecified MYOZ1 +OMIM:605603 skos:exactMatch HGNC:13752 Unspecified MYOZ1 +OMIM:605603 skos:exactMatch UMLS:C1422182 Unspecified MYOZ1 +OMIM:605600 skos:exactMatch HGNC:9853 Unspecified IPO8 +OMIM:605600 skos:exactMatch UMLS:C1419264 Unspecified IPO8 +OMIM:605600 skos:exactMatch HGNC_symbol:IPO8 Unspecified IPO8 +OMIM:605601 skos:exactMatch UMLS:C1418889 Unspecified PRG2 +OMIM:605601 skos:exactMatch HGNC_symbol:PRG2 Unspecified PRG2 +OMIM:605601 skos:exactMatch HGNC:9362 Unspecified PRG2 +OMIM:605606 skos:exactMatch UMLS:C1854124 Unspecified psoriasis 7, susceptibility to +OMIM:605607 skos:exactMatch UMLS:C1424860 Unspecified CENPH +OMIM:605607 skos:exactMatch HGNC:17268 Unspecified CENPH +OMIM:605607 skos:exactMatch HGNC_symbol:CENPH Unspecified CENPH +OMIM:605604 skos:exactMatch HGNC_symbol:PAIP2 Unspecified PAIP2 +OMIM:605604 skos:exactMatch HGNC:17970 Unspecified PAIP2 +OMIM:605604 skos:exactMatch UMLS:C1425208 Unspecified PAIP2 +OMIM:605608 skos:exactMatch HGNC:2035 Unspecified CLDN14 +OMIM:605608 skos:exactMatch UMLS:C1413463 Unspecified CLDN14 +OMIM:605608 skos:exactMatch HGNC_symbol:CLDN14 Unspecified CLDN14 +OMIM:605609 skos:exactMatch UMLS:C5231391 Unspecified OXR1 +OMIM:605609 skos:exactMatch UMLS:C1423755 Unspecified OXR1 +OMIM:605609 skos:exactMatch HGNC_symbol:OXR1 Unspecified OXR1 +OMIM:605609 skos:exactMatch HGNC:15822 Unspecified OXR1 +OMIM:107940 skos:exactMatch HGNC:711 Unspecified ARRB1 +OMIM:107940 skos:exactMatch HGNC_symbol:ARRB1 Unspecified ARRB1 +OMIM:107940 skos:exactMatch UMLS:C1332117 Unspecified ARRB1 +OMIM:191200 skos:exactMatch UMLS:C1860646 Unspecified tune deafness +OMIM:107941 skos:exactMatch HGNC:712 Unspecified ARRB2 +OMIM:107941 skos:exactMatch HGNC_symbol:ARRB2 Unspecified ARRB2 +OMIM:107941 skos:exactMatch UMLS:C1412552 Unspecified ARRB2 +OMIM:605610 skos:exactMatch UMLS:C3150667 Unspecified PNKP +OMIM:605610 skos:exactMatch HGNC:9154 Unspecified PNKP +OMIM:605610 skos:exactMatch UMLS:C1418707 Unspecified PNKP +OMIM:605610 skos:exactMatch UMLS:C4225397 Unspecified PNKP +OMIM:605610 skos:exactMatch UMLS:C1854150 Unspecified PNKP +OMIM:605610 skos:exactMatch HGNC_symbol:PNKP Unspecified PNKP +OMIM:120920 skos:exactMatch HGNC:6953 Unspecified CD46 +OMIM:120920 skos:exactMatch UMLS:C1824669 Unspecified CD46 +OMIM:120920 skos:exactMatch HGNC_symbol:CD46 Unspecified CD46 +OMIM:603005 skos:exactMatch HGNC:8604 Unspecified PAPSS2 +OMIM:603005 skos:exactMatch UMLS:C1418268 Unspecified PAPSS2 +OMIM:603005 skos:exactMatch HGNC_symbol:PAPSS2 Unspecified PAPSS2 +OMIM:119915 skos:exactMatch UMLS:C1861513 Unspecified cluster headache, familial +OMIM:605668 skos:exactMatch HGNC_symbol:BACE2 Unspecified BACE2 +OMIM:605668 skos:exactMatch UMLS:C1412728 Unspecified BACE2 +OMIM:605668 skos:exactMatch HGNC:934 Unspecified BACE2 +OMIM:605669 skos:exactMatch HGNC_symbol:PBOV1 Unspecified PBOV1 +OMIM:605669 skos:exactMatch HGNC:21079 Unspecified PBOV1 +OMIM:605669 skos:exactMatch UMLS:C1427300 Unspecified PBOV1 +OMIM:603004 skos:exactMatch HGNC:4179 Unspecified NIPSNAP2 +OMIM:603004 skos:exactMatch UMLS:C1415000 Unspecified NIPSNAP2 +OMIM:603004 skos:exactMatch HGNC_symbol:NIPSNAP2 Unspecified NIPSNAP2 +OMIM:603007 skos:exactMatch HGNC:1765 Unspecified CDH6 +OMIM:603007 skos:exactMatch UMLS:C1413280 Unspecified CDH6 +OMIM:603007 skos:exactMatch HGNC_symbol:CDH6 Unspecified CDH6 +OMIM:605666 skos:exactMatch UMLS:C1425412 Unspecified CYSLTR2 +OMIM:605666 skos:exactMatch HGNC:18274 Unspecified CYSLTR2 +OMIM:605666 skos:exactMatch HGNC_symbol:CYSLTR2 Unspecified CYSLTR2 +OMIM:603006 skos:exactMatch HGNC:1763 Unspecified CDH4 +OMIM:603006 skos:exactMatch UMLS:C1413279 Unspecified CDH4 +OMIM:603006 skos:exactMatch HGNC_symbol:CDH4 Unspecified CDH4 +OMIM:605667 skos:exactMatch HGNC:30281 Unspecified RGL1 +OMIM:605667 skos:exactMatch HGNC_symbol:RGL1 Unspecified RGL1 +OMIM:605667 skos:exactMatch UMLS:C1428954 Unspecified RGL1 +OMIM:603009 skos:exactMatch UMLS:C1414209 Unspecified DYSF +OMIM:603009 skos:exactMatch UMLS:C1847532 Unspecified DYSF +OMIM:603009 skos:exactMatch UMLS:C4551973 Unspecified DYSF +OMIM:603009 skos:exactMatch UMLS:C1850889 Unspecified DYSF +OMIM:603009 skos:exactMatch HGNC_symbol:DYSF Unspecified DYSF +OMIM:603009 skos:exactMatch HGNC:3097 Unspecified DYSF +OMIM:603008 skos:exactMatch HGNC:1767 Unspecified CDH8 +OMIM:603008 skos:exactMatch UMLS:C1413282 Unspecified CDH8 +OMIM:603008 skos:exactMatch HGNC_symbol:CDH8 Unspecified CDH8 +OMIM:617651 skos:exactMatch UMLS:C4539996 Unspecified None +OMIM:617650 skos:exactMatch UMLS:C3890506 Unspecified PACERR +OMIM:617650 skos:exactMatch HGNC_symbol:PACERR Unspecified PACERR +OMIM:617650 skos:exactMatch HGNC:50552 Unspecified PACERR +OMIM:617653 skos:exactMatch HGNC:1359 Unspecified EQTN +OMIM:617653 skos:exactMatch UMLS:C1413030 Unspecified EQTN +OMIM:617653 skos:exactMatch HGNC_symbol:EQTN Unspecified EQTN +OMIM:617652 skos:exactMatch HGNC:23825 Unspecified MOB3B +OMIM:617652 skos:exactMatch UMLS:C1428282 Unspecified MOB3B +OMIM:617652 skos:exactMatch HGNC_symbol:MOB3B Unspecified MOB3B +OMIM:617655 skos:exactMatch HGNC_symbol:PCNX1 Unspecified PCNX1 +OMIM:617655 skos:exactMatch HGNC:19740 Unspecified PCNX1 +OMIM:617655 skos:exactMatch UMLS:C1426376 Unspecified PCNX1 +OMIM:617654 skos:exactMatch UMLS:C4539997 Unspecified deafness, autosomal recessive 108 +OMIM:617646 skos:exactMatch HGNC_symbol:BAHCC1 Unspecified BAHCC1 +OMIM:617646 skos:exactMatch HGNC:29279 Unspecified BAHCC1 +OMIM:617646 skos:exactMatch UMLS:C1825861 Unspecified BAHCC1 +OMIM:617645 skos:exactMatch HGNC:23761 Unspecified KBTBD4 +OMIM:617645 skos:exactMatch UMLS:C1428245 Unspecified KBTBD4 +OMIM:617645 skos:exactMatch HGNC_symbol:KBTBD4 Unspecified KBTBD4 +OMIM:617648 skos:exactMatch HGNC_symbol:BMP2K Unspecified BMP2K +OMIM:617648 skos:exactMatch UMLS:C1425261 Unspecified BMP2K +OMIM:617648 skos:exactMatch HGNC:18041 Unspecified BMP2K +OMIM:617647 skos:exactMatch HGNC_symbol:PCAT18 Unspecified PCAT18 +OMIM:617647 skos:exactMatch HGNC:49211 Unspecified PCAT18 +OMIM:617647 skos:exactMatch UMLS:C3812532 Unspecified PCAT18 +OMIM:617649 skos:exactMatch UMLS:C1823570 Unspecified UBE2O +OMIM:617649 skos:exactMatch HGNC_symbol:UBE2O Unspecified UBE2O +OMIM:617649 skos:exactMatch HGNC:29554 Unspecified UBE2O +OMIM:605671 skos:exactMatch UMLS:C1414089 Unspecified DMXL1 +OMIM:605671 skos:exactMatch HGNC_symbol:DMXL1 Unspecified DMXL1 +OMIM:605671 skos:exactMatch HGNC:2937 Unspecified DMXL1 +OMIM:605672 skos:exactMatch UMLS:C1854064 Unspecified cerebellar ataxia and hypergonadotropic hypogonadism +OMIM:603010 skos:exactMatch UMLS:C1864276 Unspecified deafness, autosomal recessive 17 +OMIM:605670 skos:exactMatch UMLS:C1854065 Unspecified late-onset retinal degeneration +OMIM:120900 skos:exactMatch HGNC:1331 Unspecified C5 +OMIM:120900 skos:exactMatch HGNC_symbol:C5 Unspecified C5 +OMIM:120900 skos:exactMatch UMLS:C3810402 Unspecified C5 +OMIM:120900 skos:exactMatch UMLS:C0343047 Unspecified C5 +OMIM:120900 skos:exactMatch UMLS:C4015968 Unspecified C5 +OMIM:120900 skos:exactMatch UMLS:C1367710 Unspecified C5 +OMIM:603012 skos:exactMatch HGNC:5233 Unspecified HSPA1B +OMIM:603012 skos:exactMatch HGNC_symbol:HSPA1B Unspecified HSPA1B +OMIM:603012 skos:exactMatch UMLS:C1415756 Unspecified HSPA1B +OMIM:605675 skos:exactMatch UMLS:C1419416 Unspecified RNF14 +OMIM:605675 skos:exactMatch HGNC_symbol:RNF14 Unspecified RNF14 +OMIM:605675 skos:exactMatch HGNC:10058 Unspecified RNF14 +OMIM:603011 skos:exactMatch HGNC_symbol:SERF1A Unspecified SERF1A +OMIM:603011 skos:exactMatch UMLS:C1419971 Unspecified SERF1A +OMIM:603011 skos:exactMatch HGNC:10755 Unspecified SERF1A +OMIM:605676 skos:exactMatch UMLS:C1854063 Unspecified cardiomyopathy, dilated, with woolly hair and keratoderma +OMIM:603014 skos:exactMatch HGNC:6847 Unspecified MAP2K7 +OMIM:603014 skos:exactMatch HGNC_symbol:MAP2K7 Unspecified MAP2K7 +OMIM:603014 skos:exactMatch UMLS:C1456387 Unspecified MAP2K7 +OMIM:605673 skos:exactMatch HGNC:13862 Unspecified BTG4 +OMIM:605673 skos:exactMatch UMLS:C1422240 Unspecified BTG4 +OMIM:605673 skos:exactMatch HGNC_symbol:BTG4 Unspecified BTG4 +OMIM:605673 skos:exactMatch UMLS:C5436597 Unspecified BTG4 +OMIM:605674 skos:exactMatch UMLS:C1412840 Unspecified BTG3 +OMIM:605674 skos:exactMatch HGNC_symbol:BTG3 Unspecified BTG3 +OMIM:605674 skos:exactMatch HGNC:1132 Unspecified BTG3 +OMIM:603013 skos:exactMatch UMLS:C1864275 Unspecified schizophrenia 6 +OMIM:605657 skos:exactMatch HGNC:13606 Unspecified KDM2A +OMIM:605657 skos:exactMatch UMLS:C1422100 Unspecified KDM2A +OMIM:605657 skos:exactMatch HGNC_symbol:KDM2A Unspecified KDM2A +OMIM:605658 skos:exactMatch HGNC:13765 Unspecified IL25 +OMIM:605658 skos:exactMatch HGNC_symbol:IL25 Unspecified IL25 +OMIM:605658 skos:exactMatch UMLS:C1825594 Unspecified IL25 +OMIM:605655 skos:exactMatch HGNC:13602 Unspecified FBXL5 +OMIM:605655 skos:exactMatch UMLS:C1422096 Unspecified FBXL5 +OMIM:605655 skos:exactMatch HGNC_symbol:FBXL5 Unspecified FBXL5 +OMIM:605656 skos:exactMatch HGNC:13604 Unspecified FBXL7 +OMIM:605656 skos:exactMatch UMLS:C1422098 Unspecified FBXL7 +OMIM:605656 skos:exactMatch HGNC_symbol:FBXL7 Unspecified FBXL7 +OMIM:262020 skos:exactMatch UMLS:C1849805 Unspecified pilodental dysplasia with refractive errors +OMIM:605659 skos:exactMatch HGNC:14351 Unspecified CLEC2D +OMIM:605659 skos:exactMatch UMLS:C1539089 Unspecified CLEC2D +OMIM:605659 skos:exactMatch HGNC_symbol:CLEC2D Unspecified CLEC2D +OMIM:617640 skos:exactMatch HGNC_symbol:ST7L Unspecified ST7L +OMIM:617640 skos:exactMatch HGNC:18441 Unspecified ST7L +OMIM:617640 skos:exactMatch UMLS:C1425517 Unspecified ST7L +OMIM:119900 skos:exactMatch ORPHA:217059 Unspecified digital clubbing, isolated congenital +OMIM:119900 skos:exactMatch UMLS:C0345408 Unspecified digital clubbing, isolated congenital +OMIM:617642 skos:exactMatch UMLS:C4539976 Unspecified polydactyly, postaxial, iia a7 +OMIM:617641 skos:exactMatch UMLS:C4539968 Unspecified congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay +OMIM:617644 skos:exactMatch UMLS:C4539991 Unspecified spermatogenic failure 21 +OMIM:617643 skos:exactMatch UMLS:C4539985 Unspecified cerebellar atrophy, developmental delay, and seizures +OMIM:617635 skos:exactMatch UMLS:C4539951 Unspecified mental retardation, autosomal dominant 47 +OMIM:617634 skos:exactMatch HGNC:44662 Unspecified CCER2 +OMIM:617634 skos:exactMatch HGNC_symbol:CCER2 Unspecified CCER2 +OMIM:617634 skos:exactMatch UMLS:C3813056 Unspecified CCER2 +OMIM:191270 skos:exactMatch HGNC:12443 Unspecified tyrosinase-like +OMIM:191270 skos:exactMatch HGNC_symbol:TYRL Unspecified tyrosinase-like +OMIM:191270 skos:exactMatch UMLS:C3887993 Unspecified tyrosinase-like +OMIM:617637 skos:exactMatch UMLS:C4539954 Unspecified deafness, autosomal recessive 106 +OMIM:617636 skos:exactMatch UMLS:C3811017 Unspecified GPR1AS +OMIM:617636 skos:exactMatch HGNC_symbol:CMKLR2-AS Unspecified GPR1AS +OMIM:617636 skos:exactMatch HGNC:48602 Unspecified GPR1AS +OMIM:617639 skos:exactMatch UMLS:C4539964 Unspecified deafness, autosomal recessive 107 +OMIM:617638 skos:exactMatch UMLS:C4539957 Unspecified immunodeficiency 11b with atopic dermatitis +OMIM:274000 skos:exactMatch UMLS:C0175703 Unspecified thrombocytopenia-absent radius syndrome +OMIM:274000 skos:exactMatch ORPHA:3320 Unspecified thrombocytopenia-absent radius syndrome +OMIM:605660 skos:exactMatch UMLS:C1826568 Unspecified PFDN6 +OMIM:605660 skos:exactMatch HGNC:4926 Unspecified PFDN6 +OMIM:605660 skos:exactMatch HGNC_symbol:PFDN6 Unspecified PFDN6 +OMIM:605661 skos:exactMatch UMLS:C1367699 Unspecified TRIM13 +OMIM:605661 skos:exactMatch HGNC_symbol:TRIM13 Unspecified TRIM13 +OMIM:605661 skos:exactMatch HGNC:9976 Unspecified TRIM13 +OMIM:107930 skos:exactMatch HGNC:2719 Unspecified DDC +OMIM:107930 skos:exactMatch HGNC_symbol:DDC Unspecified DDC +OMIM:107930 skos:exactMatch UMLS:C1291564 Unspecified DDC +OMIM:107930 skos:exactMatch UMLS:C1413943 Unspecified DDC +OMIM:191275 skos:exactMatch HGNC:2709 Unspecified DCT +OMIM:191275 skos:exactMatch HGNC_symbol:DCT Unspecified DCT +OMIM:191275 skos:exactMatch UMLS:C1413933 Unspecified DCT +OMIM:603001 skos:exactMatch HGNC_symbol:UBE2V2 Unspecified UBE2V2 +OMIM:603001 skos:exactMatch HGNC:12495 Unspecified UBE2V2 +OMIM:603001 skos:exactMatch UMLS:C1421292 Unspecified UBE2V2 +OMIM:605664 skos:exactMatch UMLS:C1419216 Unspecified KIF20A +OMIM:605664 skos:exactMatch HGNC_symbol:KIF20A Unspecified KIF20A +OMIM:605664 skos:exactMatch HGNC:9787 Unspecified KIF20A +OMIM:603000 skos:exactMatch HGNC_symbol:MRPL58 Unspecified MRPL58 +OMIM:603000 skos:exactMatch HGNC:5359 Unspecified MRPL58 +OMIM:603000 skos:exactMatch UMLS:C1415854 Unspecified MRPL58 +OMIM:603003 skos:exactMatch UMLS:C0008340 Unspecified bile duct cysts +OMIM:605662 skos:exactMatch UMLS:C1419204 Unspecified RAB36 +OMIM:605662 skos:exactMatch HGNC_symbol:RAB36 Unspecified RAB36 +OMIM:605662 skos:exactMatch HGNC:9775 Unspecified RAB36 +OMIM:603002 skos:exactMatch HGNC_symbol:TNPO2 Unspecified TNPO2 +OMIM:603002 skos:exactMatch HGNC:19998 Unspecified TNPO2 +OMIM:603002 skos:exactMatch UMLS:C1426591 Unspecified TNPO2 +OMIM:605663 skos:exactMatch HGNC:13437 Unspecified RSPH14 +OMIM:605663 skos:exactMatch HGNC_symbol:RSPH14 Unspecified RSPH14 +OMIM:605663 skos:exactMatch UMLS:C1421992 Unspecified RSPH14 +OMIM:605646 skos:exactMatch HGNC:8818 Unspecified SLC26A4 +OMIM:605646 skos:exactMatch UMLS:C1418445 Unspecified SLC26A4 +OMIM:605646 skos:exactMatch HGNC_symbol:SLC26A4 Unspecified SLC26A4 +OMIM:605647 skos:exactMatch HGNC:13585 Unspecified FBXO6 +OMIM:605647 skos:exactMatch UMLS:C1422080 Unspecified FBXO6 +OMIM:605647 skos:exactMatch HGNC_symbol:FBXO6 Unspecified FBXO6 +OMIM:605644 skos:exactMatch HGNC_symbol:KLK8 Unspecified KLK8 +OMIM:605644 skos:exactMatch HGNC:6369 Unspecified KLK8 +OMIM:605644 skos:exactMatch UMLS:C1416679 Unspecified KLK8 +OMIM:605645 skos:exactMatch HGNC:20388 Unspecified RETNLB +OMIM:605645 skos:exactMatch HGNC_symbol:RETNLB Unspecified RETNLB +OMIM:605645 skos:exactMatch UMLS:C1426905 Unspecified RETNLB +OMIM:605648 skos:exactMatch HGNC:13586 Unspecified FBXO7 +OMIM:605648 skos:exactMatch UMLS:C1422081 Unspecified FBXO7 +OMIM:605648 skos:exactMatch HGNC_symbol:FBXO7 Unspecified FBXO7 +OMIM:605649 skos:exactMatch HGNC_symbol:FBXO8 Unspecified FBXO8 +OMIM:605649 skos:exactMatch HGNC:13587 Unspecified FBXO8 +OMIM:605649 skos:exactMatch UMLS:C1422082 Unspecified FBXO8 +OMIM:617631 skos:exactMatch HGNC_symbol:IQCE Unspecified IQCE +OMIM:617631 skos:exactMatch UMLS:C1537413 Unspecified IQCE +OMIM:617631 skos:exactMatch UMLS:C4539976 Unspecified IQCE +OMIM:617631 skos:exactMatch HGNC:29171 Unspecified IQCE +OMIM:617630 skos:exactMatch UMLS:C1423057 Unspecified GPR37L1 +OMIM:617630 skos:exactMatch HGNC:14923 Unspecified GPR37L1 +OMIM:617630 skos:exactMatch HGNC_symbol:GPR37L1 Unspecified GPR37L1 +OMIM:617633 skos:exactMatch UMLS:C4539948 Unspecified spinocerebellar ataxia, autosomal recessive 26 +OMIM:617632 skos:exactMatch UMLS:C2239371 Unspecified EFCAB7 +OMIM:617632 skos:exactMatch HGNC:29379 Unspecified EFCAB7 +OMIM:617632 skos:exactMatch HGNC_symbol:EFCAB7 Unspecified EFCAB7 +OMIM:617624 skos:exactMatch HGNC_symbol:SPDYE2 Unspecified SPDYE2 +OMIM:617624 skos:exactMatch HGNC:33841 Unspecified SPDYE2 +OMIM:617624 skos:exactMatch UMLS:C2680438 Unspecified SPDYE2 +OMIM:617623 skos:exactMatch HGNC:16408 Unspecified SPDYE1 +OMIM:617623 skos:exactMatch HGNC_symbol:SPDYE1 Unspecified SPDYE1 +OMIM:617623 skos:exactMatch UMLS:C1424256 Unspecified SPDYE1 +OMIM:617626 skos:exactMatch UMLS:C4539942 Unspecified fibromatosis, gingival, 5 +OMIM:617625 skos:exactMatch HGNC_symbol:SPDYE3 Unspecified SPDYE3 +OMIM:617625 skos:exactMatch UMLS:C2680439 Unspecified SPDYE3 +OMIM:617625 skos:exactMatch HGNC:35462 Unspecified SPDYE3 +OMIM:617628 skos:exactMatch HGNC_symbol:SPDYE4 Unspecified SPDYE4 +OMIM:617628 skos:exactMatch UMLS:C2680440 Unspecified SPDYE4 +OMIM:617628 skos:exactMatch HGNC:35463 Unspecified SPDYE4 +OMIM:617627 skos:exactMatch HGNC:27244 Unspecified SPAAR +OMIM:617627 skos:exactMatch HGNC_symbol:SPAAR Unspecified SPAAR +OMIM:617627 skos:exactMatch UMLS:C4320351 Unspecified SPAAR +OMIM:617629 skos:exactMatch UMLS:C4539944 Unspecified schizophrenia 19 +OMIM:605650 skos:exactMatch UMLS:C1418735 Unspecified POLK +OMIM:605650 skos:exactMatch HGNC_symbol:POLK Unspecified POLK +OMIM:605650 skos:exactMatch HGNC:9183 Unspecified POLK +OMIM:107900 skos:exactMatch UMLS:C1862534 Unspecified arms, malformation of +OMIM:605653 skos:exactMatch HGNC:13599 Unspecified FBXL3 +OMIM:605653 skos:exactMatch UMLS:C1539480 Unspecified FBXL3 +OMIM:605653 skos:exactMatch HGNC_symbol:FBXL3 Unspecified FBXL3 +OMIM:605654 skos:exactMatch HGNC:13601 Unspecified FBXL4 +OMIM:605654 skos:exactMatch UMLS:C1422095 Unspecified FBXL4 +OMIM:605654 skos:exactMatch HGNC_symbol:FBXL4 Unspecified FBXL4 +OMIM:605651 skos:exactMatch HGNC_symbol:FBXW11 Unspecified FBXW11 +OMIM:605651 skos:exactMatch UMLS:C5394477 Unspecified FBXW11 +OMIM:605651 skos:exactMatch HGNC:13607 Unspecified FBXW11 +OMIM:605651 skos:exactMatch UMLS:C1539505 Unspecified FBXW11 +OMIM:605651 skos:exactMatch UMLS:C1854076 Unspecified FBXW11 +OMIM:605651 skos:exactMatch UMLS:C1854075 Unspecified FBXW11 +OMIM:605652 skos:exactMatch HGNC:13598 Unspecified FBXL2 +OMIM:605652 skos:exactMatch UMLS:C1422092 Unspecified FBXL2 +OMIM:605652 skos:exactMatch HGNC_symbol:FBXL2 Unspecified FBXL2 +OMIM:605635 skos:exactMatch UMLS:C1854107 Unspecified hyperaldosteronism, familial, iia 2 +OMIM:605636 skos:exactMatch HGNC:14575 Unspecified MEG3 +OMIM:605636 skos:exactMatch UMLS:C1422767 Unspecified MEG3 +OMIM:605636 skos:exactMatch HGNC_symbol:MEG3 Unspecified MEG3 +OMIM:605633 skos:exactMatch HGNC_symbol:MUC3B Unspecified MUC3B +OMIM:605633 skos:exactMatch HGNC:13384 Unspecified MUC3B +OMIM:605633 skos:exactMatch UMLS:C1421967 Unspecified MUC3B +OMIM:605634 skos:exactMatch HGNC:11021 Unspecified SLC35A1 +OMIM:605634 skos:exactMatch HGNC_symbol:SLC35A1 Unspecified SLC35A1 +OMIM:605634 skos:exactMatch UMLS:C1420187 Unspecified SLC35A1 +OMIM:605639 skos:exactMatch HGNC:10877 Unspecified SIGLEC8 +OMIM:605639 skos:exactMatch HGNC_symbol:SIGLEC8 Unspecified SIGLEC8 +OMIM:605639 skos:exactMatch UMLS:C1854105 Unspecified SIGLEC8 +OMIM:605639 skos:exactMatch UMLS:C1420063 Unspecified SIGLEC8 +OMIM:262000 skos:exactMatch UMLS:C0266006 Unspecified bjornstad syndrome +OMIM:605637 skos:exactMatch ORPHA:363677 Unspecified myopathy, proximal, with ophthalmoplegia +OMIM:605637 skos:exactMatch UMLS:C1854106 Unspecified myopathy, proximal, with ophthalmoplegia +OMIM:605637 skos:exactMatch ORPHA:79091 Unspecified myopathy, proximal, with ophthalmoplegia +OMIM:605638 skos:exactMatch HGNC:13516 Unspecified BIRC6 +OMIM:605638 skos:exactMatch UMLS:C1332417 Unspecified BIRC6 +OMIM:605638 skos:exactMatch HGNC_symbol:BIRC6 Unspecified BIRC6 +OMIM:617620 skos:exactMatch UMLS:C1423093 Unspecified LRRC3 +OMIM:617620 skos:exactMatch HGNC:14965 Unspecified LRRC3 +OMIM:617620 skos:exactMatch HGNC_symbol:LRRC3 Unspecified LRRC3 +OMIM:617622 skos:exactMatch UMLS:C4539937 Unspecified joubert syndrome 30 +OMIM:617621 skos:exactMatch HGNC_symbol:PAXBP1 Unspecified PAXBP1 +OMIM:617621 skos:exactMatch HGNC:13579 Unspecified PAXBP1 +OMIM:617621 skos:exactMatch UMLS:C1422075 Unspecified PAXBP1 +OMIM:617621 skos:exactMatch UMLS:C2986382 Unspecified PAXBP1 +OMIM:617613 skos:exactMatch UMLS:C4539919 Unspecified multiple mitochondrial dysfunctions syndrome 5 +OMIM:617612 skos:exactMatch UMLS:C1824218 Unspecified ARMC9 +OMIM:617612 skos:exactMatch HGNC:20730 Unspecified ARMC9 +OMIM:617612 skos:exactMatch HGNC_symbol:ARMC9 Unspecified ARMC9 +OMIM:617615 skos:exactMatch UMLS:C3540116 Unspecified TMEM258 +OMIM:617615 skos:exactMatch HGNC:1164 Unspecified TMEM258 +OMIM:617615 skos:exactMatch HGNC_symbol:TMEM258 Unspecified TMEM258 +OMIM:617614 skos:exactMatch UMLS:C1428634 Unspecified SPOUT1 +OMIM:617614 skos:exactMatch HGNC:26933 Unspecified SPOUT1 +OMIM:617614 skos:exactMatch HGNC_symbol:SPOUT1 Unspecified SPOUT1 +OMIM:617617 skos:exactMatch HGNC:42394 Unspecified SPRY4IT1 +OMIM:617617 skos:exactMatch HGNC_symbol:SPRY4-IT1 Unspecified SPRY4IT1 +OMIM:617617 skos:exactMatch UMLS:C3273862 Unspecified SPRY4IT1 +OMIM:617616 skos:exactMatch UMLS:C4539927 Unspecified skraban-deardorff syndrome +OMIM:617619 skos:exactMatch HGNC_symbol:MSTO1 Unspecified MSTO1 +OMIM:617619 skos:exactMatch HGNC:29678 Unspecified MSTO1 +OMIM:617619 skos:exactMatch UMLS:C4540597 Unspecified MSTO1 +OMIM:617619 skos:exactMatch UMLS:C4540596 Unspecified MSTO1 +OMIM:617619 skos:exactMatch UMLS:C1826310 Unspecified MSTO1 +OMIM:617618 skos:exactMatch HGNC:19959 Unspecified TOGARAM1 +OMIM:617618 skos:exactMatch UMLS:C4321218 Unspecified TOGARAM1 +OMIM:617618 skos:exactMatch HGNC_symbol:TOGARAM1 Unspecified TOGARAM1 +OMIM:605642 skos:exactMatch UMLS:C1854104 Unspecified thyroid carcinoma, papillary, with papillary renal neoplasia +OMIM:605643 skos:exactMatch HGNC_symbol:KLK5 Unspecified KLK5 +OMIM:605643 skos:exactMatch HGNC:6366 Unspecified KLK5 +OMIM:605643 skos:exactMatch UMLS:C1416676 Unspecified KLK5 +OMIM:605640 skos:exactMatch UMLS:C1420064 Unspecified SIGLEC9 +OMIM:605640 skos:exactMatch HGNC:10878 Unspecified SIGLEC9 +OMIM:605640 skos:exactMatch HGNC_symbol:SIGLEC9 Unspecified SIGLEC9 +OMIM:605641 skos:exactMatch HGNC:11064 Unspecified SLC7A6 +OMIM:605641 skos:exactMatch UMLS:C1420225 Unspecified SLC7A6 +OMIM:605641 skos:exactMatch HGNC_symbol:SLC7A6 Unspecified SLC7A6 +OMIM:107910 skos:exactMatch HGNC_symbol:CYP19A1 Unspecified CYP19A1 +OMIM:107910 skos:exactMatch HGNC:2594 Unspecified CYP19A1 +OMIM:107910 skos:exactMatch UMLS:C1366496 Unspecified CYP19A1 +OMIM:107910 skos:exactMatch UMLS:C3468042 Unspecified CYP19A1 +OMIM:107910 skos:exactMatch UMLS:C3468044 Unspecified CYP19A1 +OMIM:107910 skos:exactMatch UMLS:C3468043 Unspecified CYP19A1 +OMIM:191250 skos:exactMatch UMLS:C1860645 Unspecified twinning due to superfetation +OMIM:603169 skos:exactMatch HGNC_symbol:CTSZ Unspecified CTSZ +OMIM:603169 skos:exactMatch UMLS:C1332808 Unspecified CTSZ +OMIM:603169 skos:exactMatch HGNC:2547 Unspecified CTSZ +OMIM:215480 skos:exactMatch UMLS:C1859092 Unspecified choroid plexus calcification and mental retardation +OMIM:615150 skos:exactMatch HGNC_symbol:MIR191 Unspecified MIR191 +OMIM:615150 skos:exactMatch UMLS:C1537824 Unspecified MIR191 +OMIM:615150 skos:exactMatch HGNC:31561 Unspecified MIR191 +OMIM:615151 skos:exactMatch UMLS:C1537738 Unspecified MIR30C1 +OMIM:615151 skos:exactMatch HGNC:31626 Unspecified MIR30C1 +OMIM:615151 skos:exactMatch HGNC_symbol:MIR30C1 Unspecified MIR30C1 +OMIM:615152 skos:exactMatch HGNC_symbol:KLHDC10 Unspecified KLHDC10 +OMIM:615152 skos:exactMatch HGNC:22194 Unspecified KLHDC10 +OMIM:615152 skos:exactMatch UMLS:C2681633 Unspecified KLHDC10 +OMIM:615153 skos:exactMatch UMLS:C1537924 Unspecified MLKL +OMIM:615153 skos:exactMatch HGNC_symbol:MLKL Unspecified MLKL +OMIM:615153 skos:exactMatch HGNC:26617 Unspecified MLKL +OMIM:615154 skos:exactMatch HGNC:23460 Unspecified DYDC1 +OMIM:615154 skos:exactMatch HGNC_symbol:DYDC1 Unspecified DYDC1 +OMIM:615154 skos:exactMatch UMLS:C1539320 Unspecified DYDC1 +OMIM:615155 skos:exactMatch UMLS:C3554594 Unspecified steel syndrome +OMIM:615156 skos:exactMatch UMLS:C3554599 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 +OMIM:615157 skos:exactMatch UMLS:C3554605 Unspecified mitochondrial complex 3 deficiency, nuclear iia 2 +OMIM:615158 skos:exactMatch UMLS:C3554606 Unspecified mitochondrial complex 3 deficiency, nuclear iia 3 +OMIM:615148 skos:exactMatch UMLS:C1826129 Unspecified MIR551A +OMIM:615148 skos:exactMatch HGNC_symbol:MIR551A Unspecified MIR551A +OMIM:615148 skos:exactMatch HGNC:32806 Unspecified MIR551A +OMIM:615149 skos:exactMatch UMLS:C1826049 Unspecified MIR495 +OMIM:615149 skos:exactMatch HGNC_symbol:MIR495 Unspecified MIR495 +OMIM:615149 skos:exactMatch HGNC:32085 Unspecified MIR495 +OMIM:603171 skos:exactMatch UMLS:C1417663 Unspecified NEDD8 +OMIM:603171 skos:exactMatch HGNC_symbol:NEDD8 Unspecified NEDD8 +OMIM:603171 skos:exactMatch HGNC:7732 Unspecified NEDD8 +OMIM:603170 skos:exactMatch UMLS:C1420681 Unspecified TEAD3 +OMIM:603170 skos:exactMatch HGNC_symbol:TEAD3 Unspecified TEAD3 +OMIM:603170 skos:exactMatch HGNC:11716 Unspecified TEAD3 +OMIM:603173 skos:exactMatch HGNC_symbol:UBE2M Unspecified UBE2M +OMIM:603173 skos:exactMatch HGNC:12491 Unspecified UBE2M +OMIM:603173 skos:exactMatch UMLS:C1421289 Unspecified UBE2M +OMIM:313900 skos:exactMatch ORPHA:268322 Unspecified thrombocytopenia 1 +OMIM:313900 skos:exactMatch UMLS:C1839163 Unspecified thrombocytopenia 1 +OMIM:313900 skos:exactMatch ORPHA:852 Unspecified thrombocytopenia 1 +OMIM:603172 skos:exactMatch HGNC_symbol:UBA3 Unspecified UBA3 +OMIM:603172 skos:exactMatch HGNC:12470 Unspecified UBA3 +OMIM:603172 skos:exactMatch UMLS:C1421269 Unspecified UBA3 +OMIM:603175 skos:exactMatch UMLS:C1864153 Unspecified schizophrenia 5 +OMIM:603174 skos:exactMatch UMLS:C3495426 Unspecified hyperhomocysteinemia +OMIM:603177 skos:exactMatch UMLS:C1421423 Unspecified VAMP8 +OMIM:603177 skos:exactMatch HGNC:12647 Unspecified VAMP8 +OMIM:603177 skos:exactMatch HGNC_symbol:VAMP8 Unspecified VAMP8 +OMIM:603176 skos:exactMatch UMLS:C1864152 Unspecified schizophrenia 7 +OMIM:603179 skos:exactMatch HGNC_symbol:CA9 Unspecified CA9 +OMIM:603179 skos:exactMatch HGNC:1383 Unspecified CA9 +OMIM:603179 skos:exactMatch UMLS:C1413052 Unspecified CA9 +OMIM:603178 skos:exactMatch UMLS:C1417216 Unspecified ALDH6A1 +OMIM:603178 skos:exactMatch UMLS:C3279840 Unspecified ALDH6A1 +OMIM:603178 skos:exactMatch HGNC_symbol:ALDH6A1 Unspecified ALDH6A1 +OMIM:603178 skos:exactMatch HGNC:7179 Unspecified ALDH6A1 +OMIM:603159 skos:exactMatch HGNC_symbol:LRP3 Unspecified LRP3 +OMIM:603159 skos:exactMatch HGNC:6695 Unspecified LRP3 +OMIM:603159 skos:exactMatch UMLS:C1416915 Unspecified LRP3 +OMIM:603158 skos:exactMatch HGNC:12631 Unspecified USP8 +OMIM:603158 skos:exactMatch UMLS:C1864176 Unspecified USP8 +OMIM:603158 skos:exactMatch UMLS:C1336848 Unspecified USP8 +OMIM:603158 skos:exactMatch HGNC_symbol:USP8 Unspecified USP8 +OMIM:615140 skos:exactMatch HGNC_symbol:C12orf57 Unspecified C12ORF57 +OMIM:615140 skos:exactMatch UMLS:C1824378 Unspecified C12ORF57 +OMIM:615140 skos:exactMatch HGNC:29521 Unspecified C12ORF57 +OMIM:615142 skos:exactMatch UMLS:C1537481 Unspecified KIF2B +OMIM:615142 skos:exactMatch HGNC:29443 Unspecified KIF2B +OMIM:615142 skos:exactMatch HGNC_symbol:KIF2B Unspecified KIF2B +OMIM:615143 skos:exactMatch HGNC:12619 Unspecified USP20 +OMIM:615143 skos:exactMatch UMLS:C1421398 Unspecified USP20 +OMIM:615143 skos:exactMatch HGNC_symbol:USP20 Unspecified USP20 +OMIM:480100 skos:exactMatch HGNC:12381 Unspecified TSPY1 +OMIM:480100 skos:exactMatch UMLS:C1421207 Unspecified TSPY1 +OMIM:480100 skos:exactMatch HGNC_symbol:TSPY1 Unspecified TSPY1 +OMIM:615144 skos:exactMatch HGNC_symbol:PRSS55 Unspecified PRSS55 +OMIM:615144 skos:exactMatch UMLS:C2828579 Unspecified PRSS55 +OMIM:615144 skos:exactMatch HGNC:30824 Unspecified PRSS55 +OMIM:615145 skos:exactMatch UMLS:C5193017 Unspecified microphthalmia, isolated, with coloboma 9 +OMIM:615145 skos:exactMatch UMLS:C5193150 Unspecified microphthalmia, isolated, with coloboma 9 +OMIM:615145 skos:exactMatch UMLS:C3554592 Unspecified microphthalmia, isolated, with coloboma 9 +OMIM:615146 skos:exactMatch HGNC:20059 Unspecified USP33 +OMIM:615146 skos:exactMatch HGNC_symbol:USP33 Unspecified USP33 +OMIM:615146 skos:exactMatch UMLS:C1426647 Unspecified USP33 +OMIM:615147 skos:exactMatch UMLS:C3554593 Unspecified retinal dystrophy, iris coloboma, and comedogenic acne syndrome +OMIM:615137 skos:exactMatch UMLS:C1424206 Unspecified GALNT17 +OMIM:615137 skos:exactMatch HGNC_symbol:GALNT17 Unspecified GALNT17 +OMIM:615137 skos:exactMatch HGNC:16347 Unspecified GALNT17 +OMIM:617799 skos:exactMatch UMLS:C4540484 Unspecified mental retardation, autosomal dominant 54 +OMIM:615138 skos:exactMatch UMLS:C2681539 Unspecified GALNTL6 +OMIM:615138 skos:exactMatch HGNC_symbol:GALNTL6 Unspecified GALNTL6 +OMIM:615138 skos:exactMatch HGNC:33844 Unspecified GALNTL6 +OMIM:615139 skos:exactMatch UMLS:C3554576 Unspecified facial dysmorphism, immunodeficiency, livedo, and short stature +OMIM:603160 skos:exactMatch HGNC:3368 Unspecified ENTPD6 +OMIM:603160 skos:exactMatch HGNC_symbol:ENTPD6 Unspecified ENTPD6 +OMIM:603160 skos:exactMatch UMLS:C1414417 Unspecified ENTPD6 +OMIM:603162 skos:exactMatch HGNC:3367 Unspecified ENTPD5 +OMIM:603162 skos:exactMatch HGNC_symbol:ENTPD5 Unspecified ENTPD5 +OMIM:603162 skos:exactMatch UMLS:C1414416 Unspecified ENTPD5 +OMIM:603161 skos:exactMatch HGNC:3365 Unspecified ENTPD3 +OMIM:603161 skos:exactMatch HGNC_symbol:ENTPD3 Unspecified ENTPD3 +OMIM:603161 skos:exactMatch UMLS:C1414414 Unspecified ENTPD3 +OMIM:603164 skos:exactMatch UMLS:C1418477 Unspecified PEX3 +OMIM:603164 skos:exactMatch HGNC:8858 Unspecified PEX3 +OMIM:603164 skos:exactMatch HGNC_symbol:PEX3 Unspecified PEX3 +OMIM:603163 skos:exactMatch HGNC:17036 Unspecified SCRG1 +OMIM:603163 skos:exactMatch UMLS:C1864175 Unspecified SCRG1 +OMIM:603163 skos:exactMatch HGNC_symbol:SCRG1 Unspecified SCRG1 +OMIM:603166 skos:exactMatch HGNC:6864 Unspecified MAP4K2 +OMIM:603166 skos:exactMatch UMLS:C1417019 Unspecified MAP4K2 +OMIM:603166 skos:exactMatch HGNC_symbol:MAP4K2 Unspecified MAP4K2 +OMIM:603165 skos:exactMatch UMLS:C0011615 Unspecified dermatitis, atopic +OMIM:603165 skos:exactMatch UMLS:C1864155 Unspecified dermatitis, atopic +OMIM:603168 skos:exactMatch HGNC:12558 Unspecified ULK1 +OMIM:603168 skos:exactMatch UMLS:C1421350 Unspecified ULK1 +OMIM:603168 skos:exactMatch HGNC_symbol:ULK1 Unspecified ULK1 +OMIM:603167 skos:exactMatch UMLS:C1366450 Unspecified BAD +OMIM:603167 skos:exactMatch HGNC_symbol:BAD Unspecified BAD +OMIM:603167 skos:exactMatch HGNC:936 Unspecified BAD +OMIM:603148 skos:exactMatch UMLS:C1412616 Unspecified ATF3 +OMIM:603148 skos:exactMatch HGNC_symbol:ATF3 Unspecified ATF3 +OMIM:603148 skos:exactMatch HGNC:785 Unspecified ATF3 +OMIM:603147 skos:exactMatch UMLS:C2930997 Unspecified congenital disorder of glycosylation, iia ic +OMIM:603147 skos:exactMatch ORPHA:79320 Unspecified congenital disorder of glycosylation, iia ic +OMIM:603149 skos:exactMatch HGNC_symbol:IL17A Unspecified IL17A +OMIM:603149 skos:exactMatch HGNC:5981 Unspecified IL17A +OMIM:603149 skos:exactMatch UMLS:C1825592 Unspecified IL17A +OMIM:617790 skos:exactMatch HGNC:16470 Unspecified TXNDC2 +OMIM:617790 skos:exactMatch HGNC_symbol:TXNDC2 Unspecified TXNDC2 +OMIM:617790 skos:exactMatch UMLS:C1424305 Unspecified TXNDC2 +OMIM:617792 skos:exactMatch UMLS:C1540137 Unspecified TXNDC11 +OMIM:617792 skos:exactMatch HGNC_symbol:TXNDC11 Unspecified TXNDC11 +OMIM:617792 skos:exactMatch HGNC:28030 Unspecified TXNDC11 +OMIM:615130 skos:exactMatch HGNC_symbol:GALNT11 Unspecified GALNT11 +OMIM:615130 skos:exactMatch HGNC:19875 Unspecified GALNT11 +OMIM:615130 skos:exactMatch UMLS:C1426500 Unspecified GALNT11 +OMIM:617791 skos:exactMatch HGNC_symbol:LRRCC1 Unspecified LRRCC1 +OMIM:617791 skos:exactMatch HGNC:29373 Unspecified LRRCC1 +OMIM:617791 skos:exactMatch UMLS:C1825907 Unspecified LRRCC1 +OMIM:617794 skos:exactMatch UMLS:C4320146 Unspecified EEF1AKMT2 +OMIM:617794 skos:exactMatch HGNC_symbol:EEF1AKMT2 Unspecified EEF1AKMT2 +OMIM:617794 skos:exactMatch HGNC:33787 Unspecified EEF1AKMT2 +OMIM:615131 skos:exactMatch HGNC_symbol:GALNT15 Unspecified GALNT15 +OMIM:615131 skos:exactMatch HGNC:21531 Unspecified GALNT15 +OMIM:615131 skos:exactMatch UMLS:C1427591 Unspecified GALNT15 +OMIM:617793 skos:exactMatch UMLS:C4084698 Unspecified EEF1AKMT1 +OMIM:617793 skos:exactMatch HGNC_symbol:EEF1AKMT1 Unspecified EEF1AKMT1 +OMIM:617793 skos:exactMatch HGNC:27351 Unspecified EEF1AKMT1 +OMIM:615132 skos:exactMatch HGNC:23233 Unspecified GALNT16 +OMIM:615132 skos:exactMatch HGNC_symbol:GALNT16 Unspecified GALNT16 +OMIM:615132 skos:exactMatch UMLS:C1428007 Unspecified GALNT16 +OMIM:301900 skos:exactMatch ORPHA:127 Unspecified borjeson-forssman-lehmann syndrome +OMIM:301900 skos:exactMatch UMLS:C0265339 Unspecified borjeson-forssman-lehmann syndrome +OMIM:617796 skos:exactMatch ORPHA:178469 Unspecified mental retardation, autosomal dominant 52 +OMIM:617796 skos:exactMatch UMLS:C4540478 Unspecified mental retardation, autosomal dominant 52 +OMIM:615133 skos:exactMatch UMLS:C1539547 Unspecified GALNTL5 +OMIM:615133 skos:exactMatch HGNC_symbol:GALNTL5 Unspecified GALNTL5 +OMIM:615133 skos:exactMatch HGNC:21725 Unspecified GALNTL5 +OMIM:617795 skos:exactMatch HGNC:34493 Unspecified EPOP +OMIM:617795 skos:exactMatch HGNC_symbol:EPOP Unspecified EPOP +OMIM:617795 skos:exactMatch UMLS:C2681300 Unspecified EPOP +OMIM:615134 skos:exactMatch UMLS:C3554574 Unspecified melanoma, cutaneous malignant, susceptibility to, 9 +OMIM:617798 skos:exactMatch UMLS:C4540481 Unspecified intellectual developmental disorder, autosomal dominant 53 +OMIM:615135 skos:exactMatch ORPHA:268162 Unspecified maple syrup urine disease, mild variant +OMIM:615135 skos:exactMatch ORPHA:511 Unspecified maple syrup urine disease, mild variant +OMIM:615135 skos:exactMatch UMLS:C3554575 Unspecified maple syrup urine disease, mild variant +OMIM:615136 skos:exactMatch HGNC:30488 Unspecified GALNT18 +OMIM:615136 skos:exactMatch UMLS:C1539546 Unspecified GALNT18 +OMIM:615136 skos:exactMatch HGNC_symbol:GALNT18 Unspecified GALNT18 +OMIM:617797 skos:exactMatch HGNC_symbol:SRMS Unspecified SRMS +OMIM:617797 skos:exactMatch HGNC:11298 Unspecified SRMS +OMIM:617797 skos:exactMatch UMLS:C1420406 Unspecified SRMS +OMIM:617789 skos:exactMatch HGNC:31454 Unspecified TXNDC8 +OMIM:617789 skos:exactMatch UMLS:C1540134 Unspecified TXNDC8 +OMIM:617789 skos:exactMatch HGNC_symbol:TXNDC8 Unspecified TXNDC8 +OMIM:615126 skos:exactMatch HGNC:27880 Unspecified ANKRD13D +OMIM:615126 skos:exactMatch UMLS:C1823669 Unspecified ANKRD13D +OMIM:615126 skos:exactMatch HGNC_symbol:ANKRD13D Unspecified ANKRD13D +OMIM:615127 skos:exactMatch UMLS:C3554560 Unspecified epilepsy, familial adult myoclonic, 4 +OMIM:617788 skos:exactMatch UMLS:C4540474 Unspecified mental retardation, autosomal dominant 51 +OMIM:615128 skos:exactMatch HGNC_symbol:CENPX Unspecified CENPX +OMIM:615128 skos:exactMatch HGNC:11422 Unspecified CENPX +OMIM:615128 skos:exactMatch UMLS:C1420488 Unspecified CENPX +OMIM:615129 skos:exactMatch UMLS:C1414955 Unspecified GALNT5 +OMIM:615129 skos:exactMatch HGNC_symbol:GALNT5 Unspecified GALNT5 +OMIM:615129 skos:exactMatch HGNC:4127 Unspecified GALNT5 +OMIM:603151 skos:exactMatch UMLS:C1539749 Unspecified SEPT7 +OMIM:603151 skos:exactMatch HGNC:1717 Unspecified SEPT7 +OMIM:603151 skos:exactMatch HGNC_symbol:SEPTIN7 Unspecified SEPT7 +OMIM:603150 skos:exactMatch UMLS:C4748269 Unspecified ATP5F1D +OMIM:603150 skos:exactMatch HGNC:837 Unspecified ATP5F1D +OMIM:603150 skos:exactMatch UMLS:C1412658 Unspecified ATP5F1D +OMIM:603150 skos:exactMatch HGNC_symbol:ATP5F1D Unspecified ATP5F1D +OMIM:603153 skos:exactMatch HGNC_symbol:RAD1 Unspecified RAD1 +OMIM:603153 skos:exactMatch HGNC:9806 Unspecified RAD1 +OMIM:603153 skos:exactMatch UMLS:C1419231 Unspecified RAD1 +OMIM:603152 skos:exactMatch HGNC_symbol:ATP5PF Unspecified ATP5PF +OMIM:603152 skos:exactMatch HGNC:847 Unspecified ATP5PF +OMIM:603152 skos:exactMatch UMLS:C1412668 Unspecified ATP5PF +OMIM:603155 skos:exactMatch HGNC:9647 Unspecified PTPN14 +OMIM:603155 skos:exactMatch HGNC_symbol:PTPN14 Unspecified PTPN14 +OMIM:603155 skos:exactMatch UMLS:C1419097 Unspecified PTPN14 +OMIM:603154 skos:exactMatch UMLS:C1418715 Unspecified PNN +OMIM:603154 skos:exactMatch HGNC:9162 Unspecified PNN +OMIM:603154 skos:exactMatch HGNC_symbol:PNN Unspecified PNN +OMIM:603157 skos:exactMatch UMLS:C1418577 Unspecified PIK3R2 +OMIM:603157 skos:exactMatch HGNC_symbol:PIK3R2 Unspecified PIK3R2 +OMIM:603157 skos:exactMatch UMLS:C1864177 Unspecified PIK3R2 +OMIM:603157 skos:exactMatch HGNC:8980 Unspecified PIK3R2 +OMIM:603156 skos:exactMatch HGNC_symbol:BPHL Unspecified BPHL +OMIM:603156 skos:exactMatch UMLS:C1332436 Unspecified BPHL +OMIM:603156 skos:exactMatch HGNC:1094 Unspecified BPHL +OMIM:603137 skos:exactMatch HGNC_symbol:CUL4A Unspecified CUL4A +OMIM:603137 skos:exactMatch UMLS:C1332812 Unspecified CUL4A +OMIM:603137 skos:exactMatch HGNC:2554 Unspecified CUL4A +OMIM:603136 skos:exactMatch UMLS:C3469606 Unspecified CUL3 +OMIM:603136 skos:exactMatch HGNC_symbol:CUL3 Unspecified CUL3 +OMIM:603136 skos:exactMatch UMLS:C1332811 Unspecified CUL3 +OMIM:603136 skos:exactMatch HGNC:2553 Unspecified CUL3 +OMIM:603139 skos:exactMatch HGNC_symbol:RAD17 Unspecified RAD17 +OMIM:603139 skos:exactMatch HGNC:9807 Unspecified RAD17 +OMIM:603139 skos:exactMatch UMLS:C1419232 Unspecified RAD17 +OMIM:605798 skos:exactMatch HGNC:7899 Unspecified NPDC1 +OMIM:605798 skos:exactMatch UMLS:C1417778 Unspecified NPDC1 +OMIM:605798 skos:exactMatch HGNC_symbol:NPDC1 Unspecified NPDC1 +OMIM:605799 skos:exactMatch HGNC:14604 Unspecified AMN +OMIM:605799 skos:exactMatch UMLS:C4016948 Unspecified AMN +OMIM:605799 skos:exactMatch UMLS:C1422785 Unspecified AMN +OMIM:605799 skos:exactMatch HGNC_symbol:AMN Unspecified AMN +OMIM:617781 skos:exactMatch UMLS:C4540439 Unspecified retinitis pigmentosa 80 +OMIM:617780 skos:exactMatch UMLS:C4540434 Unspecified combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia +OMIM:617783 skos:exactMatch UMLS:C4540453 Unspecified nephrotic syndrome, iia 16 +OMIM:615120 skos:exactMatch UMLS:C3808739 Unspecified myasthenic syndrome, congenital, 8 +OMIM:617782 skos:exactMatch UMLS:C1429058 Unspecified GREB1L +OMIM:617782 skos:exactMatch UMLS:C4540497 Unspecified GREB1L +OMIM:617782 skos:exactMatch HGNC:31042 Unspecified GREB1L +OMIM:617782 skos:exactMatch HGNC_symbol:GREB1L Unspecified GREB1L +OMIM:615121 skos:exactMatch UMLS:C3554539 Unspecified stomatin-like protein-2, hyperphosphorylation of +OMIM:617785 skos:exactMatch HGNC:19262 Unspecified PAPLN +OMIM:617785 skos:exactMatch HGNC_symbol:PAPLN Unspecified PAPLN +OMIM:617785 skos:exactMatch UMLS:C1426127 Unspecified PAPLN +OMIM:615122 skos:exactMatch UMLS:C3554540 Unspecified lymphoproliferative syndrome 2 +OMIM:617784 skos:exactMatch UMLS:C4521564 Unspecified fanconi anemia, complementation group w +OMIM:615123 skos:exactMatch HGNC:21268 Unspecified ANKRD13A +OMIM:615123 skos:exactMatch HGNC_symbol:ANKRD13A Unspecified ANKRD13A +OMIM:615123 skos:exactMatch UMLS:C1823666 Unspecified ANKRD13A +OMIM:615124 skos:exactMatch HGNC:26363 Unspecified ANKRD13B +OMIM:615124 skos:exactMatch UMLS:C1823667 Unspecified ANKRD13B +OMIM:615124 skos:exactMatch HGNC_symbol:ANKRD13B Unspecified ANKRD13B +OMIM:617787 skos:exactMatch UMLS:C4540470 Unspecified intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities +OMIM:617786 skos:exactMatch HGNC_symbol:CCT8 Unspecified CCT8 +OMIM:617786 skos:exactMatch HGNC:1623 Unspecified CCT8 +OMIM:617786 skos:exactMatch UMLS:C1413201 Unspecified CCT8 +OMIM:615125 skos:exactMatch HGNC:25374 Unspecified ANKRD13C +OMIM:615125 skos:exactMatch HGNC_symbol:ANKRD13C Unspecified ANKRD13C +OMIM:615125 skos:exactMatch UMLS:C1823668 Unspecified ANKRD13C +OMIM:615115 skos:exactMatch HGNC_symbol:ASXL3 Unspecified ASXL3 +OMIM:615115 skos:exactMatch UMLS:C2239906 Unspecified ASXL3 +OMIM:615115 skos:exactMatch HGNC:29357 Unspecified ASXL3 +OMIM:615115 skos:exactMatch UMLS:C3809650 Unspecified ASXL3 +OMIM:617778 skos:exactMatch UMLS:C1540238 Unspecified TXNDC15 +OMIM:617778 skos:exactMatch HGNC_symbol:TXNDC15 Unspecified TXNDC15 +OMIM:617778 skos:exactMatch HGNC:20652 Unspecified TXNDC15 +OMIM:615116 skos:exactMatch HGNC:32429 Unspecified SPEM1 +OMIM:615116 skos:exactMatch HGNC_symbol:SPEM1 Unspecified SPEM1 +OMIM:615116 skos:exactMatch UMLS:C1824475 Unspecified SPEM1 +OMIM:617777 skos:exactMatch HGNC:15728 Unspecified BAGE3 +OMIM:617777 skos:exactMatch HGNC_symbol:BAGE3 Unspecified BAGE3 +OMIM:617777 skos:exactMatch UMLS:C1423687 Unspecified BAGE3 +OMIM:615117 skos:exactMatch HGNC_symbol:C2orf88 Unspecified C2ORF88 +OMIM:615117 skos:exactMatch UMLS:C2681212 Unspecified C2ORF88 +OMIM:615117 skos:exactMatch HGNC:28191 Unspecified C2ORF88 +OMIM:617779 skos:exactMatch HGNC:28618 Unspecified TMEM256 +OMIM:617779 skos:exactMatch HGNC_symbol:TMEM256 Unspecified TMEM256 +OMIM:617779 skos:exactMatch UMLS:C1824453 Unspecified TMEM256 +OMIM:615119 skos:exactMatch ORPHA:1561 Unspecified mitochondrial complex 4 deficiency, nuclear iia 6 +OMIM:615119 skos:exactMatch UMLS:C3554534 Unspecified mitochondrial complex 4 deficiency, nuclear iia 6 +OMIM:603140 skos:exactMatch HGNC_symbol:PIP4K2A Unspecified PIP4K2A +OMIM:603140 skos:exactMatch UMLS:C1335219 Unspecified PIP4K2A +OMIM:603140 skos:exactMatch HGNC:8997 Unspecified PIP4K2A +OMIM:603142 skos:exactMatch HGNC_symbol:PPFIBP2 Unspecified PPFIBP2 +OMIM:603142 skos:exactMatch UMLS:C1418790 Unspecified PPFIBP2 +OMIM:603142 skos:exactMatch HGNC:9250 Unspecified PPFIBP2 +OMIM:603141 skos:exactMatch HGNC_symbol:PPFIBP1 Unspecified PPFIBP1 +OMIM:603141 skos:exactMatch UMLS:C1418789 Unspecified PPFIBP1 +OMIM:603141 skos:exactMatch HGNC:9249 Unspecified PPFIBP1 +OMIM:603144 skos:exactMatch UMLS:C1418787 Unspecified PPFIA3 +OMIM:603144 skos:exactMatch HGNC:9247 Unspecified PPFIA3 +OMIM:603144 skos:exactMatch HGNC_symbol:PPFIA3 Unspecified PPFIA3 +OMIM:603143 skos:exactMatch UMLS:C1418786 Unspecified PPFIA2 +OMIM:603143 skos:exactMatch HGNC:9246 Unspecified PPFIA2 +OMIM:603143 skos:exactMatch HGNC_symbol:PPFIA2 Unspecified PPFIA2 +OMIM:603146 skos:exactMatch UMLS:C1419040 Unspecified PSMD9 +OMIM:603146 skos:exactMatch HGNC_symbol:PSMD9 Unspecified PSMD9 +OMIM:603146 skos:exactMatch HGNC:9567 Unspecified PSMD9 +OMIM:603145 skos:exactMatch UMLS:C1418788 Unspecified PPFIA4 +OMIM:603145 skos:exactMatch HGNC:9248 Unspecified PPFIA4 +OMIM:603145 skos:exactMatch HGNC_symbol:PPFIA4 Unspecified PPFIA4 +OMIM:615190 skos:exactMatch UMLS:C3554656 Unspecified dyskeratosis congenita, autosomal recessive 5 +OMIM:615190 skos:exactMatch UMLS:C3808802 Unspecified dyskeratosis congenita, autosomal recessive 5 +OMIM:615191 skos:exactMatch UMLS:C3554657 Unspecified lissencephaly 5 +OMIM:615192 skos:exactMatch UMLS:C3554662 Unspecified birth weight quantitative trait locus 4 +OMIM:615193 skos:exactMatch UMLS:C3554663 Unspecified bleeding disorder, platelet-type, 15 +OMIM:615194 skos:exactMatch UMLS:C1425464 Unspecified DHRS2 +OMIM:615194 skos:exactMatch HGNC_symbol:DHRS2 Unspecified DHRS2 +OMIM:615194 skos:exactMatch HGNC:18349 Unspecified DHRS2 +OMIM:615195 skos:exactMatch UMLS:C1426369 Unspecified DHRS4L1 +OMIM:615195 skos:exactMatch HGNC_symbol:DHRS4L1 Unspecified DHRS4L1 +OMIM:615195 skos:exactMatch HGNC:19732 Unspecified DHRS4L1 +OMIM:615196 skos:exactMatch UMLS:C1426368 Unspecified DHRS4L2 +OMIM:615196 skos:exactMatch HGNC_symbol:DHRS4L2 Unspecified DHRS4L2 +OMIM:615196 skos:exactMatch HGNC:19731 Unspecified DHRS4L2 +OMIM:615197 skos:exactMatch UMLS:C3554664 Unspecified restless legs syndrome, susceptibility to, 8 +OMIM:615198 skos:exactMatch ORPHA:500548 Unspecified osteosclerotic metaphyseal dysplasia +OMIM:615198 skos:exactMatch UMLS:C3554665 Unspecified osteosclerotic metaphyseal dysplasia +OMIM:615199 skos:exactMatch HGNC:15546 Unspecified SLC35G5 +OMIM:615199 skos:exactMatch UMLS:C3469830 Unspecified SLC35G5 +OMIM:615199 skos:exactMatch HGNC_symbol:SLC35G5 Unspecified SLC35G5 +OMIM:240400 skos:exactMatch HGNC_symbol:GULOP Unspecified hypoascorbemia +OMIM:240400 skos:exactMatch HGNC:4695 Unspecified hypoascorbemia +OMIM:240400 skos:exactMatch UMLS:C0036474 Unspecified hypoascorbemia +OMIM:240400 skos:exactMatch UMLS:C1855867 Unspecified hypoascorbemia +OMIM:240400 skos:exactMatch UMLS:C1415369 Unspecified hypoascorbemia +OMIM:215450 skos:exactMatch UMLS:C1859098 Unspecified chorea, benign familial +OMIM:615180 skos:exactMatch UMLS:C3469993 Unspecified TIMM21 +OMIM:615180 skos:exactMatch HGNC:25010 Unspecified TIMM21 +OMIM:615180 skos:exactMatch HGNC_symbol:TIMM21 Unspecified TIMM21 +OMIM:615181 skos:exactMatch UMLS:C3554638 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11 +OMIM:615182 skos:exactMatch UMLS:C2746066 Unspecified combined d-2- and l-2-hydroxyglutaric aciduria +OMIM:615183 skos:exactMatch UMLS:C1823706 Unspecified C1ORF86 +OMIM:615183 skos:exactMatch HGNC:26428 Unspecified C1ORF86 +OMIM:615183 skos:exactMatch HGNC_symbol:FAAP20 Unspecified C1ORF86 +OMIM:615184 skos:exactMatch UMLS:C3554649 Unspecified cardiomyopathy, dilated, 1ii +OMIM:615185 skos:exactMatch UMLS:C3554654 Unspecified charcot-marie-tooth disease, dominant intermediate f +OMIM:615186 skos:exactMatch HGNC:29322 Unspecified CWC22 +OMIM:615186 skos:exactMatch UMLS:C2681389 Unspecified CWC22 +OMIM:615186 skos:exactMatch HGNC_symbol:CWC22 Unspecified CWC22 +OMIM:615187 skos:exactMatch HGNC:17893 Unspecified PGAP2 +OMIM:615187 skos:exactMatch UMLS:C2828415 Unspecified PGAP2 +OMIM:615187 skos:exactMatch HGNC_symbol:PGAP2 Unspecified PGAP2 +OMIM:615188 skos:exactMatch UMLS:C3808800 Unspecified cataract 39, multiple types +OMIM:615188 skos:exactMatch ORPHA:91492 Unspecified cataract 39, multiple types +OMIM:615189 skos:exactMatch HGNC_symbol:ANKRD55 Unspecified ANKRD55 +OMIM:615189 skos:exactMatch UMLS:C1823689 Unspecified ANKRD55 +OMIM:615189 skos:exactMatch HGNC:25681 Unspecified ANKRD55 +OMIM:615170 skos:exactMatch UMLS:C3554611 Unspecified wahab syndrome +OMIM:615171 skos:exactMatch UMLS:C3554631 Unspecified None +OMIM:615172 skos:exactMatch HGNC:30206 Unspecified RNFT1 +OMIM:615172 skos:exactMatch UMLS:C2239901 Unspecified RNFT1 +OMIM:615172 skos:exactMatch HGNC_symbol:RNFT1 Unspecified RNFT1 +OMIM:301940 skos:exactMatch UMLS:C1844919 Unspecified brachydactyly, mononen iia +OMIM:615173 skos:exactMatch HGNC_symbol:LINC-ROR Unspecified LINC-ROR +OMIM:615173 skos:exactMatch HGNC:43773 Unspecified LINC-ROR +OMIM:615173 skos:exactMatch UMLS:C3470566 Unspecified LINC-ROR +OMIM:615174 skos:exactMatch HGNC:15547 Unspecified l-threonine dehydrogenase, pseudogene +OMIM:615174 skos:exactMatch UMLS:C3888000 Unspecified l-threonine dehydrogenase, pseudogene +OMIM:615174 skos:exactMatch HGNC_symbol:TDH Unspecified l-threonine dehydrogenase, pseudogene +OMIM:615175 skos:exactMatch HGNC:25295 Unspecified TLCD3B +OMIM:615175 skos:exactMatch UMLS:C1539464 Unspecified TLCD3B +OMIM:615175 skos:exactMatch HGNC_symbol:TLCD3B Unspecified TLCD3B +OMIM:615176 skos:exactMatch UMLS:C3541498 Unspecified NPTNIT1 +OMIM:615176 skos:exactMatch HGNC:45091 Unspecified NPTNIT1 +OMIM:615176 skos:exactMatch HGNC_symbol:NPTN-IT1 Unspecified NPTNIT1 +OMIM:615177 skos:exactMatch HGNC:21151 Unspecified RNF126 +OMIM:615177 skos:exactMatch UMLS:C1427366 Unspecified RNF126 +OMIM:615177 skos:exactMatch HGNC_symbol:RNF126 Unspecified RNF126 +OMIM:615178 skos:exactMatch HGNC:28420 Unspecified KXD1 +OMIM:615178 skos:exactMatch UMLS:C3470554 Unspecified KXD1 +OMIM:615178 skos:exactMatch HGNC_symbol:KXD1 Unspecified KXD1 +OMIM:615179 skos:exactMatch UMLS:C3808786 Unspecified albinism, oculocutaneous, iia 7 +OMIM:603191 skos:exactMatch UMLS:C1412946 Unspecified CFAP410 +OMIM:603191 skos:exactMatch HGNC_symbol:CFAP410 Unspecified CFAP410 +OMIM:603191 skos:exactMatch HGNC:1260 Unspecified CFAP410 +OMIM:603190 skos:exactMatch HGNC:30163 Unspecified PRMT3 +OMIM:603190 skos:exactMatch HGNC_symbol:PRMT3 Unspecified PRMT3 +OMIM:603190 skos:exactMatch UMLS:C1826699 Unspecified PRMT3 +OMIM:603193 skos:exactMatch HGNC:842 Unspecified ATP5G2 +OMIM:603193 skos:exactMatch UMLS:C1412663 Unspecified ATP5G2 +OMIM:603193 skos:exactMatch HGNC_symbol:ATP5MC2 Unspecified ATP5G2 +OMIM:603192 skos:exactMatch HGNC:841 Unspecified ATP5G1 +OMIM:603192 skos:exactMatch UMLS:C1412662 Unspecified ATP5G1 +OMIM:603192 skos:exactMatch HGNC_symbol:ATP5MC1 Unspecified ATP5G1 +OMIM:603195 skos:exactMatch HGNC_symbol:GPR32 Unspecified GPR32 +OMIM:603195 skos:exactMatch UMLS:C1333693 Unspecified GPR32 +OMIM:603195 skos:exactMatch HGNC:4487 Unspecified GPR32 +OMIM:603194 skos:exactMatch UMLS:C1864148 Unspecified meckel syndrome, iia 2 +OMIM:603197 skos:exactMatch HGNC:16268 Unspecified PNPLA6 +OMIM:603197 skos:exactMatch HGNC_symbol:PNPLA6 Unspecified PNPLA6 +OMIM:603197 skos:exactMatch UMLS:C1826637 Unspecified PNPLA6 +OMIM:603196 skos:exactMatch UMLS:C1413565 Unspecified COCH +OMIM:603196 skos:exactMatch HGNC_symbol:COCH Unspecified COCH +OMIM:603196 skos:exactMatch HGNC:2180 Unspecified COCH +OMIM:603199 skos:exactMatch HGNC:28881 Unspecified PATJ +OMIM:603199 skos:exactMatch HGNC_symbol:PATJ Unspecified PATJ +OMIM:603199 skos:exactMatch UMLS:C1537407 Unspecified PATJ +OMIM:603198 skos:exactMatch HGNC:9688 Unspecified CAVIN1 +OMIM:603198 skos:exactMatch UMLS:C1419128 Unspecified CAVIN1 +OMIM:603198 skos:exactMatch HGNC_symbol:CAVIN1 Unspecified CAVIN1 +OMIM:215470 skos:exactMatch UMLS:C1859093 Unspecified boucher-neuhauser syndrome +OMIM:301950 skos:exactMatch UMLS:C1844918 Unspecified branchial arch syndrome, X-linked +OMIM:615160 skos:exactMatch UMLS:C3554608 Unspecified mitochondrial complex 3 deficiency, nuclear iia 5 +OMIM:615161 skos:exactMatch HGNC:4945 Unspecified HLA-DQB2 +OMIM:615161 skos:exactMatch UMLS:C1415573 Unspecified HLA-DQB2 +OMIM:615161 skos:exactMatch HGNC_symbol:HLA-DQB2 Unspecified HLA-DQB2 +OMIM:615162 skos:exactMatch UMLS:C3554609 Unspecified intellectual developmental disorder, autosomal recessive 35 +OMIM:615163 skos:exactMatch UMLS:C3554610 Unspecified cone-rod dystrophy 17 +OMIM:615164 skos:exactMatch UMLS:C1823728 Unspecified AKIRIN1 +OMIM:615164 skos:exactMatch HGNC_symbol:AKIRIN1 Unspecified AKIRIN1 +OMIM:615164 skos:exactMatch HGNC:25744 Unspecified AKIRIN1 +OMIM:615165 skos:exactMatch HGNC:21407 Unspecified AKIRIN2 +OMIM:615165 skos:exactMatch UMLS:C1427552 Unspecified AKIRIN2 +OMIM:615165 skos:exactMatch HGNC_symbol:AKIRIN2 Unspecified AKIRIN2 +OMIM:615166 skos:exactMatch UMLS:C2240263 Unspecified CMC1 +OMIM:615166 skos:exactMatch HGNC:28783 Unspecified CMC1 +OMIM:615166 skos:exactMatch HGNC_symbol:CMC1 Unspecified CMC1 +OMIM:615167 skos:exactMatch HGNC_symbol:LRWD1 Unspecified LRWD1 +OMIM:615167 skos:exactMatch HGNC:21769 Unspecified LRWD1 +OMIM:615167 skos:exactMatch UMLS:C2239659 Unspecified LRWD1 +OMIM:615168 skos:exactMatch HGNC:22231 Unspecified AMZ1 +OMIM:615168 skos:exactMatch UMLS:C2239529 Unspecified AMZ1 +OMIM:615168 skos:exactMatch HGNC_symbol:AMZ1 Unspecified AMZ1 +OMIM:615169 skos:exactMatch HGNC:28041 Unspecified AMZ2 +OMIM:615169 skos:exactMatch UMLS:C2239530 Unspecified AMZ2 +OMIM:615169 skos:exactMatch HGNC_symbol:AMZ2 Unspecified AMZ2 +OMIM:615159 skos:exactMatch UMLS:C3554607 Unspecified mitochondrial complex 3 deficiency, nuclear iia 4 +OMIM:603180 skos:exactMatch HGNC:12826 Unspecified XPOT +OMIM:603180 skos:exactMatch UMLS:C1421545 Unspecified XPOT +OMIM:603180 skos:exactMatch HGNC_symbol:XPOT Unspecified XPOT +OMIM:603182 skos:exactMatch HGNC:6038 Unspecified ILF3 +OMIM:603182 skos:exactMatch HGNC_symbol:ILF3 Unspecified ILF3 +OMIM:603182 skos:exactMatch UMLS:C1416420 Unspecified ILF3 +OMIM:603181 skos:exactMatch HGNC:6037 Unspecified ILF2 +OMIM:603181 skos:exactMatch HGNC_symbol:ILF2 Unspecified ILF2 +OMIM:603181 skos:exactMatch UMLS:C1416419 Unspecified ILF2 +OMIM:603184 skos:exactMatch HGNC_symbol:CDK8 Unspecified CDK8 +OMIM:603184 skos:exactMatch UMLS:C1413289 Unspecified CDK8 +OMIM:603184 skos:exactMatch HGNC:1779 Unspecified CDK8 +OMIM:603184 skos:exactMatch UMLS:C5231489 Unspecified CDK8 +OMIM:603183 skos:exactMatch UMLS:C1419769 Unspecified RTN2 +OMIM:603183 skos:exactMatch HGNC_symbol:RTN2 Unspecified RTN2 +OMIM:603183 skos:exactMatch HGNC:10468 Unspecified RTN2 +OMIM:603186 skos:exactMatch HGNC_symbol:DAXX Unspecified DAXX +OMIM:603186 skos:exactMatch HGNC:2681 Unspecified DAXX +OMIM:603186 skos:exactMatch UMLS:C1333203 Unspecified DAXX +OMIM:603185 skos:exactMatch UMLS:C1417601 Unspecified NASP +OMIM:603185 skos:exactMatch HGNC:7644 Unspecified NASP +OMIM:603185 skos:exactMatch HGNC_symbol:NASP Unspecified NASP +OMIM:603188 skos:exactMatch UMLS:C2676933 Unspecified body mass index quantitative trait locus 8 +OMIM:603187 skos:exactMatch HGNC:1866 Unspecified CETN1 +OMIM:603187 skos:exactMatch UMLS:C1413350 Unspecified CETN1 +OMIM:603187 skos:exactMatch HGNC_symbol:CETN1 Unspecified CETN1 +OMIM:603189 skos:exactMatch UMLS:C1823143 Unspecified STX5 +OMIM:603189 skos:exactMatch HGNC_symbol:STX5 Unspecified STX5 +OMIM:603189 skos:exactMatch HGNC:11440 Unspecified STX5 +OMIM:215400 skos:exactMatch UMLS:C0008487 Unspecified chordoma, susceptibility to +OMIM:227400 skos:exactMatch ORPHA:326 Unspecified factor 5 deficiency +OMIM:227400 skos:exactMatch UMLS:C0015499 Unspecified factor 5 deficiency +OMIM:132600 skos:exactMatch ORPHA:91414 Unspecified pilomatrixoma +OMIM:132600 skos:exactMatch UMLS:C0206711 Unspecified pilomatrixoma +OMIM:203450 skos:exactMatch ORPHA:58 Unspecified alexander disease +OMIM:203450 skos:exactMatch UMLS:C0270726 Unspecified alexander disease +OMIM:203450 skos:exactMatch ORPHA:363722 Unspecified alexander disease +OMIM:203450 skos:exactMatch ORPHA:363717 Unspecified alexander disease +OMIM:120580 skos:exactMatch UMLS:C1412937 Unspecified C1S +OMIM:120580 skos:exactMatch HGNC:1247 Unspecified C1S +OMIM:120580 skos:exactMatch HGNC_symbol:C1S Unspecified C1S +OMIM:120570 skos:exactMatch HGNC_symbol:C1QB Unspecified C1QB +OMIM:120570 skos:exactMatch UMLS:C1412932 Unspecified C1QB +OMIM:120570 skos:exactMatch HGNC:1242 Unspecified C1QB +OMIM:120577 skos:exactMatch HGNC_symbol:CD93 Unspecified C1QR1 +OMIM:120577 skos:exactMatch UMLS:C1824672 Unspecified C1QR1 +OMIM:120577 skos:exactMatch HGNC:15855 Unspecified C1QR1 +OMIM:120575 skos:exactMatch HGNC:1245 Unspecified C1QC +OMIM:120575 skos:exactMatch UMLS:C1823200 Unspecified C1QC +OMIM:120575 skos:exactMatch HGNC_symbol:C1QC Unspecified C1QC +OMIM:144600 skos:exactMatch UMLS:C0020480 Unspecified hyperlipoproteinemia, iia 4 +OMIM:156600 skos:exactMatch UMLS:C1303009 Unspecified microcoria, congenital +OMIM:119580 skos:exactMatch UMLS:C4551988 Unspecified blepharocheilodontic syndrome 1 +OMIM:119580 skos:exactMatch UMLS:C1861536 Unspecified blepharocheilodontic syndrome 1 +OMIM:120560 skos:exactMatch UMLS:C1852716 Unspecified None +OMIM:203400 skos:exactMatch UMLS:C0268293 Unspecified corticosterone methyloxidase iia 1 deficiency +OMIM:119570 skos:exactMatch UMLS:C0432098 Unspecified cleft soft palate +OMIM:120550 skos:exactMatch HGNC:1241 Unspecified C1QA +OMIM:120550 skos:exactMatch HGNC_symbol:C1QA Unspecified C1QA +OMIM:120550 skos:exactMatch UMLS:C1412931 Unspecified C1QA +OMIM:107690 skos:exactMatch HGNC_symbol:APOA4 Unspecified APOA4 +OMIM:107690 skos:exactMatch HGNC:602 Unspecified APOA4 +OMIM:107690 skos:exactMatch UMLS:C1412470 Unspecified APOA4 +OMIM:156500 skos:exactMatch UMLS:C0265289 Unspecified metaphyseal chondrodysplasia, schmid iia +OMIM:129000 skos:exactMatch UMLS:C1851895 Unspecified earring holes, natural +OMIM:120650 skos:exactMatch HGNC:2336 Unspecified CR2 +OMIM:120650 skos:exactMatch HGNC_symbol:CR2 Unspecified CR2 +OMIM:120650 skos:exactMatch UMLS:C1413696 Unspecified CR2 +OMIM:156520 skos:exactMatch UMLS:C1834968 Unspecified metatarsus varus, iia 1 +OMIM:107670 skos:exactMatch UMLS:C1412469 Unspecified APOA2 +OMIM:107670 skos:exactMatch UMLS:C3888202 Unspecified APOA2 +OMIM:107670 skos:exactMatch HGNC_symbol:APOA2 Unspecified APOA2 +OMIM:107670 skos:exactMatch HGNC:601 Unspecified APOA2 +OMIM:168500 skos:exactMatch UMLS:C1868598 Unspecified parietal foramina 1 +OMIM:168500 skos:exactMatch UMLS:C1868599 Unspecified parietal foramina 1 +OMIM:117000 skos:exactMatch ORPHA:178145 Unspecified central core disease of muscle +OMIM:117000 skos:exactMatch UMLS:C2674259 Unspecified central core disease of muscle +OMIM:117000 skos:exactMatch ORPHA:598 Unspecified central core disease of muscle +OMIM:117000 skos:exactMatch ORPHA:597 Unspecified central core disease of muscle +OMIM:117000 skos:exactMatch UMLS:C0751951 Unspecified central core disease of muscle +OMIM:107680 skos:exactMatch UMLS:C0268389 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C1412468 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4017420 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4017419 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4017418 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4017713 Unspecified APOA1 +OMIM:107680 skos:exactMatch HGNC_symbol:APOA1 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C5231503 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C5231502 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015842 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015843 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015832 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015833 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015834 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015835 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015836 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015837 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015838 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015830 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C4015831 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C0342608 Unspecified APOA1 +OMIM:107680 skos:exactMatch UMLS:C0342898 Unspecified APOA1 +OMIM:107680 skos:exactMatch HGNC:600 Unspecified APOA1 +OMIM:156510 skos:exactMatch UMLS:C3549874 Unspecified metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly +OMIM:119650 skos:exactMatch UMLS:C1861515 Unspecified cleidorhizomelic syndrome +OMIM:605701 skos:exactMatch UMLS:C1419430 Unspecified TRIM10 +OMIM:605701 skos:exactMatch HGNC:10072 Unspecified TRIM10 +OMIM:605701 skos:exactMatch HGNC_symbol:TRIM10 Unspecified TRIM10 +OMIM:605702 skos:exactMatch HGNC:14687 Unspecified LYVE1 +OMIM:605702 skos:exactMatch UMLS:C1422841 Unspecified LYVE1 +OMIM:605702 skos:exactMatch HGNC_symbol:LYVE1 Unspecified LYVE1 +OMIM:605700 skos:exactMatch UMLS:C1419423 Unspecified TRIM39 +OMIM:605700 skos:exactMatch HGNC:10065 Unspecified TRIM39 +OMIM:605700 skos:exactMatch HGNC_symbol:TRIM39 Unspecified TRIM39 +OMIM:605705 skos:exactMatch HGNC_symbol:SIK1 Unspecified SIK1 +OMIM:605705 skos:exactMatch HGNC:11142 Unspecified SIK1 +OMIM:605705 skos:exactMatch UMLS:C4225360 Unspecified SIK1 +OMIM:605705 skos:exactMatch UMLS:C1420279 Unspecified SIK1 +OMIM:156540 skos:exactMatch HGNC_symbol:MTAP Unspecified MTAP +OMIM:156540 skos:exactMatch HGNC:7413 Unspecified MTAP +OMIM:156540 skos:exactMatch UMLS:C1417407 Unspecified MTAP +OMIM:107650 skos:exactMatch UMLS:C0520679 Unspecified apnea, obstructive sleep +OMIM:605706 skos:exactMatch HGNC_symbol:RIPK4 Unspecified RIPK4 +OMIM:605706 skos:exactMatch UMLS:C0406733 Unspecified RIPK4 +OMIM:605706 skos:exactMatch UMLS:C1538842 Unspecified RIPK4 +OMIM:605706 skos:exactMatch HGNC:496 Unspecified RIPK4 +OMIM:605706 skos:exactMatch UMLS:C1849718 Unspecified RIPK4 +OMIM:605703 skos:exactMatch HGNC:12648 Unspecified VAPA +OMIM:605703 skos:exactMatch HGNC_symbol:VAPA Unspecified VAPA +OMIM:605703 skos:exactMatch UMLS:C1421424 Unspecified VAPA +OMIM:605704 skos:exactMatch HGNC:12649 Unspecified VAPBC +OMIM:605704 skos:exactMatch HGNC_symbol:VAPB Unspecified VAPBC +OMIM:605704 skos:exactMatch UMLS:C1421425 Unspecified VAPBC +OMIM:605709 skos:exactMatch HGNC:16937 Unspecified ARL6IP5 +OMIM:605709 skos:exactMatch HGNC_symbol:ARL6IP5 Unspecified ARL6IP5 +OMIM:605709 skos:exactMatch UMLS:C1538931 Unspecified ARL6IP5 +OMIM:605708 skos:exactMatch HGNC:14580 Unspecified ARHGEF11 +OMIM:605708 skos:exactMatch HGNC_symbol:ARHGEF11 Unspecified ARHGEF11 +OMIM:605708 skos:exactMatch UMLS:C1422770 Unspecified ARHGEF11 +OMIM:181500 skos:exactMatch UMLS:C0036341 Unspecified schizophrenia +OMIM:181500 skos:exactMatch UMLS:C4538533 Unspecified schizophrenia +OMIM:120620 skos:exactMatch UMLS:C1970030 Unspecified CR1 +OMIM:120620 skos:exactMatch UMLS:C1413694 Unspecified CR1 +OMIM:120620 skos:exactMatch HGNC:2334 Unspecified CR1 +OMIM:120620 skos:exactMatch HGNC_symbol:CR1 Unspecified CR1 +OMIM:156530 skos:exactMatch UMLS:C0265281 Unspecified metatropic dysplasia +OMIM:181510 skos:exactMatch UMLS:C0220702 Unspecified schizophrenia 1 +OMIM:156535 skos:exactMatch HGNC:6916 Unspecified MBD1 +OMIM:156535 skos:exactMatch UMLS:C1417049 Unspecified MBD1 +OMIM:156535 skos:exactMatch HGNC_symbol:MBD1 Unspecified MBD1 +OMIM:156560 skos:exactMatch HGNC:6898 Unspecified MARS1 +OMIM:156560 skos:exactMatch UMLS:C1417035 Unspecified MARS1 +OMIM:156560 skos:exactMatch HGNC_symbol:MARS1 Unspecified MARS1 +OMIM:156565 skos:exactMatch HGNC:7211 Unspecified MPG +OMIM:156565 skos:exactMatch HGNC_symbol:MPG Unspecified MPG +OMIM:156565 skos:exactMatch UMLS:C1417239 Unspecified MPG +OMIM:156569 skos:exactMatch HGNC:7059 Unspecified MGMT +OMIM:156569 skos:exactMatch UMLS:C1334505 Unspecified MGMT +OMIM:156569 skos:exactMatch HGNC_symbol:MGMT Unspecified MGMT +OMIM:156550 skos:exactMatch UMLS:C0265279 Unspecified kniest dysplasia +OMIM:156550 skos:exactMatch ORPHA:485 Unspecified kniest dysplasia +OMIM:107640 skos:exactMatch UMLS:C0520680 Unspecified apnea, central sleep +OMIM:119600 skos:exactMatch UMLS:C1861516 Unspecified cleidocranial dysplasia +OMIM:119600 skos:exactMatch UMLS:C1838416 Unspecified cleidocranial dysplasia +OMIM:119600 skos:exactMatch UMLS:C0008928 Unspecified cleidocranial dysplasia +OMIM:156580 skos:exactMatch UMLS:C0220693 Unspecified microcephaly, autosomal dominant +OMIM:605745 skos:exactMatch UMLS:C1427130 Unspecified CYBRD1 +OMIM:605745 skos:exactMatch HGNC:20797 Unspecified CYBRD1 +OMIM:605745 skos:exactMatch HGNC_symbol:CYBRD1 Unspecified CYBRD1 +OMIM:605746 skos:exactMatch UMLS:C1854013 Unspecified anisomastia +OMIM:605743 skos:exactMatch UMLS:C1838654 Unspecified HHAT +OMIM:605743 skos:exactMatch HGNC_symbol:HHAT Unspecified HHAT +OMIM:605743 skos:exactMatch UMLS:C1539668 Unspecified HHAT +OMIM:605743 skos:exactMatch HGNC:18270 Unspecified HHAT +OMIM:605744 skos:exactMatch HGNC:3518 Unspecified EXTL3 +OMIM:605744 skos:exactMatch UMLS:C1367595 Unspecified EXTL3 +OMIM:605744 skos:exactMatch HGNC_symbol:EXTL3 Unspecified EXTL3 +OMIM:605744 skos:exactMatch UMLS:C4479452 Unspecified EXTL3 +OMIM:605749 skos:exactMatch UMLS:C1854003 Unspecified cataract 26, multiple types +OMIM:193525 skos:exactMatch HGNC:12761 Unspecified WEE1 +OMIM:193525 skos:exactMatch HGNC_symbol:WEE1 Unspecified WEE1 +OMIM:193525 skos:exactMatch UMLS:C1421500 Unspecified WEE1 +OMIM:605747 skos:exactMatch UMLS:C1537558 Unspecified LDLRAP1 +OMIM:605747 skos:exactMatch HGNC:18640 Unspecified LDLRAP1 +OMIM:605747 skos:exactMatch HGNC_symbol:LDLRAP1 Unspecified LDLRAP1 +OMIM:605748 skos:exactMatch HGNC_symbol:BCO1 Unspecified BCO1 +OMIM:605748 skos:exactMatch HGNC:13815 Unspecified BCO1 +OMIM:605748 skos:exactMatch UMLS:C1422210 Unspecified BCO1 +OMIM:617730 skos:exactMatch UMLS:C4540270 Unspecified galloway-mowat syndrome 4 +OMIM:617732 skos:exactMatch UMLS:C4540277 Unspecified facial palsy, congenital, with ptosis and velopharyngeal dysfunction +OMIM:617731 skos:exactMatch UMLS:C4540274 Unspecified galloway-mowat syndrome 5 +OMIM:617723 skos:exactMatch UMLS:C1826943 Unspecified RRP12 +OMIM:617723 skos:exactMatch HGNC:29100 Unspecified RRP12 +OMIM:617723 skos:exactMatch HGNC_symbol:RRP12 Unspecified RRP12 +OMIM:617722 skos:exactMatch UMLS:C1540141 Unspecified TXNL4B +OMIM:617722 skos:exactMatch HGNC:26041 Unspecified TXNL4B +OMIM:617722 skos:exactMatch HGNC_symbol:TXNL4B Unspecified TXNL4B +OMIM:617725 skos:exactMatch HGNC:24733 Unspecified FUOM +OMIM:617725 skos:exactMatch HGNC_symbol:FUOM Unspecified FUOM +OMIM:617725 skos:exactMatch UMLS:C1539006 Unspecified FUOM +OMIM:617724 skos:exactMatch UMLS:C1540074 Unspecified TSC22D2 +OMIM:617724 skos:exactMatch HGNC:29095 Unspecified TSC22D2 +OMIM:617724 skos:exactMatch HGNC_symbol:TSC22D2 Unspecified TSC22D2 +OMIM:617727 skos:exactMatch UMLS:C1539978 Unspecified TM9SF4 +OMIM:617727 skos:exactMatch HGNC_symbol:TM9SF4 Unspecified TM9SF4 +OMIM:617727 skos:exactMatch HGNC:30797 Unspecified TM9SF4 +OMIM:617726 skos:exactMatch HGNC_symbol:CARD19 Unspecified CARD19 +OMIM:617726 skos:exactMatch UMLS:C1428675 Unspecified CARD19 +OMIM:617726 skos:exactMatch HGNC:28148 Unspecified CARD19 +OMIM:617729 skos:exactMatch UMLS:C4540266 Unspecified galloway-mowat syndrome 3 +OMIM:617728 skos:exactMatch UMLS:C3890131 Unspecified CEP295 +OMIM:617728 skos:exactMatch HGNC_symbol:CEP295 Unspecified CEP295 +OMIM:617728 skos:exactMatch HGNC:29366 Unspecified CEP295 +OMIM:107600 skos:exactMatch UMLS:C0282160 Unspecified aplasia cutis congenita, nonsyndromic +OMIM:193520 skos:exactMatch UMLS:C0553586 Unspecified watson syndrome +OMIM:605752 skos:exactMatch HGNC:15736 Unspecified HID1 +OMIM:605752 skos:exactMatch HGNC_symbol:HID1 Unspecified HID1 +OMIM:605752 skos:exactMatch UMLS:C1423692 Unspecified HID1 +OMIM:605753 skos:exactMatch HGNC_symbol:SPINK2 Unspecified SPINK2 +OMIM:605753 skos:exactMatch HGNC:11245 Unspecified SPINK2 +OMIM:605753 skos:exactMatch UMLS:C1420360 Unspecified SPINK2 +OMIM:605750 skos:exactMatch UMLS:C1854002 Unspecified exudative vitreoretinopathy 3 +OMIM:605751 skos:exactMatch UMLS:C1853995 Unspecified seizures, benign familial infantile, 2 +OMIM:605734 skos:exactMatch HGNC:11867 Unspecified TMEFF2 +OMIM:605734 skos:exactMatch HGNC_symbol:TMEFF2 Unspecified TMEFF2 +OMIM:605734 skos:exactMatch UMLS:C1420775 Unspecified TMEFF2 +OMIM:605735 skos:exactMatch UMLS:C2751535 Unspecified bleeding disorder, platelet-type, 12 +OMIM:156570 skos:exactMatch UMLS:C1417453 Unspecified MTR +OMIM:156570 skos:exactMatch HGNC_symbol:MTR Unspecified MTR +OMIM:156570 skos:exactMatch HGNC:7468 Unspecified MTR +OMIM:605732 skos:exactMatch UMLS:C2986382 Unspecified TNFRSF21 +OMIM:605732 skos:exactMatch HGNC_symbol:TNFRSF21 Unspecified TNFRSF21 +OMIM:605732 skos:exactMatch HGNC:13469 Unspecified TNFRSF21 +OMIM:605732 skos:exactMatch UMLS:C1422006 Unspecified TNFRSF21 +OMIM:605733 skos:exactMatch UMLS:C1854020 Unspecified PRELID1 +OMIM:605733 skos:exactMatch HGNC_symbol:PRELID1 Unspecified PRELID1 +OMIM:605733 skos:exactMatch HGNC:30255 Unspecified PRELID1 +OMIM:605738 skos:exactMatch UMLS:C1854018 Unspecified microphthalmia, isolated, with coloboma 2 +OMIM:605739 skos:exactMatch UMLS:C1537514 Unspecified KY +OMIM:605739 skos:exactMatch HGNC_symbol:KY Unspecified KY +OMIM:605739 skos:exactMatch HGNC:26576 Unspecified KY +OMIM:605736 skos:exactMatch UMLS:C1421261 Unspecified UBASH3A +OMIM:605736 skos:exactMatch HGNC_symbol:UBASH3A Unspecified UBASH3A +OMIM:605736 skos:exactMatch HGNC:12462 Unspecified UBASH3A +OMIM:605737 skos:exactMatch UMLS:C1332418 Unspecified BIRC7 +OMIM:605737 skos:exactMatch HGNC_symbol:BIRC7 Unspecified BIRC7 +OMIM:605737 skos:exactMatch HGNC:13702 Unspecified BIRC7 +OMIM:168550 skos:exactMatch UMLS:C1868597 Unspecified parietal foramina with cleidocranial dysplasia +OMIM:617721 skos:exactMatch UMLS:C4540265 Unspecified neuronopathy, distal hereditary motor, iia 9 +OMIM:617720 skos:exactMatch HGNC_symbol:PPP1R42 Unspecified PPP1R42 +OMIM:617720 skos:exactMatch HGNC:33732 Unspecified PPP1R42 +OMIM:617720 skos:exactMatch UMLS:C3471440 Unspecified PPP1R42 +OMIM:617712 skos:exactMatch UMLS:C4540205 Unspecified oocyte maturation defect 3 +OMIM:617711 skos:exactMatch UMLS:C4540199 Unspecified developmental and epileptic encephalopathy 91 +OMIM:617714 skos:exactMatch UMLS:C2681849 Unspecified CAVIN4 +OMIM:617714 skos:exactMatch HGNC_symbol:CAVIN4 Unspecified CAVIN4 +OMIM:617714 skos:exactMatch HGNC:33742 Unspecified CAVIN4 +OMIM:617713 skos:exactMatch UMLS:C4540209 Unspecified combined oxidative phosphorylation deficiency 33 +OMIM:617716 skos:exactMatch UMLS:C3146409 Unspecified ARHGAP44 +OMIM:617716 skos:exactMatch HGNC:29096 Unspecified ARHGAP44 +OMIM:617716 skos:exactMatch HGNC_symbol:ARHGAP44 Unspecified ARHGAP44 +OMIM:617715 skos:exactMatch HGNC:24331 Unspecified MALRD1 +OMIM:617715 skos:exactMatch UMLS:C1538412 Unspecified MALRD1 +OMIM:617715 skos:exactMatch HGNC_symbol:MALRD1 Unspecified MALRD1 +OMIM:617718 skos:exactMatch UMLS:C4540232 Unspecified immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia +OMIM:617717 skos:exactMatch UMLS:C4521678 Unspecified auditory neuropathy and optic atrophy +OMIM:617719 skos:exactMatch UMLS:C4540251 Unspecified epiphyseal dysplasia, multiple, 7 +OMIM:193530 skos:exactMatch UMLS:C0457013 Unspecified weyers acrofacial dysostosis +OMIM:605741 skos:exactMatch UMLS:C1414233 Unspecified GPR183 +OMIM:605741 skos:exactMatch HGNC_symbol:GPR183 Unspecified GPR183 +OMIM:605741 skos:exactMatch HGNC:3128 Unspecified GPR183 +OMIM:605742 skos:exactMatch HGNC_symbol:TUBA8 Unspecified TUBA8 +OMIM:605742 skos:exactMatch HGNC:12410 Unspecified TUBA8 +OMIM:605742 skos:exactMatch UMLS:C1421229 Unspecified TUBA8 +OMIM:605740 skos:exactMatch HGNC_symbol:SOST Unspecified SOST +OMIM:605740 skos:exactMatch HGNC:13771 Unspecified SOST +OMIM:605740 skos:exactMatch UMLS:C1422190 Unspecified SOST +OMIM:605723 skos:exactMatch HGNC:18731 Unspecified PDCD1LG2 +OMIM:605723 skos:exactMatch HGNC_symbol:PDCD1LG2 Unspecified PDCD1LG2 +OMIM:605723 skos:exactMatch UMLS:C1425745 Unspecified PDCD1LG2 +OMIM:605724 skos:exactMatch UMLS:C1838457 Unspecified fanconi anemia, complementation group d1 +OMIM:605724 skos:exactMatch ORPHA:319462 Unspecified fanconi anemia, complementation group d1 +OMIM:264350 skos:exactMatch UMLS:C1449843 Unspecified pseudohypoaldosteronism, iia i, autosomal recessive +OMIM:605721 skos:exactMatch UMLS:C1422839 Unspecified JAM1 +OMIM:605721 skos:exactMatch HGNC_symbol:F11R Unspecified JAM1 +OMIM:605721 skos:exactMatch HGNC:14685 Unspecified JAM1 +OMIM:605722 skos:exactMatch UMLS:C1416583 Unspecified KCNJ16 +OMIM:605722 skos:exactMatch HGNC_symbol:KCNJ16 Unspecified KCNJ16 +OMIM:605722 skos:exactMatch HGNC:6262 Unspecified KCNJ16 +OMIM:605727 skos:exactMatch UMLS:C1854022 Unspecified otosclerosis 2 +OMIM:605728 skos:exactMatch UMLS:C1854021 Unspecified cataract 25 +OMIM:605725 skos:exactMatch HGNC:13797 Unspecified PRX +OMIM:605725 skos:exactMatch UMLS:C1422198 Unspecified PRX +OMIM:605725 skos:exactMatch HGNC_symbol:PRX Unspecified PRX +OMIM:605726 skos:exactMatch UMLS:C1854023 Unspecified spinal muscular atrophy, distal, autosomal recessive, 2 +OMIM:311300 skos:exactMatch UMLS:C2748918 Unspecified otopalatodigital syndrome, iia 1 +OMIM:311300 skos:exactMatch UMLS:C2748919 Unspecified otopalatodigital syndrome, iia 1 +OMIM:311300 skos:exactMatch UMLS:C0265251 Unspecified otopalatodigital syndrome, iia 1 +OMIM:605729 skos:exactMatch HGNC:24108 Unspecified AKNA +OMIM:605729 skos:exactMatch HGNC_symbol:AKNA Unspecified AKNA +OMIM:605729 skos:exactMatch UMLS:C1540197 Unspecified AKNA +OMIM:617710 skos:exactMatch UMLS:C4540192 Unspecified neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures +OMIM:617701 skos:exactMatch HGNC_symbol:CASC8 Unspecified CASC8 +OMIM:617701 skos:exactMatch HGNC:45129 Unspecified CASC8 +OMIM:617701 skos:exactMatch UMLS:C3811552 Unspecified CASC8 +OMIM:617700 skos:exactMatch UMLS:C1421279 Unspecified UBE2F +OMIM:617700 skos:exactMatch HGNC_symbol:UBE2F Unspecified UBE2F +OMIM:617700 skos:exactMatch HGNC:12480 Unspecified UBE2F +OMIM:617703 skos:exactMatch HGNC:49476 Unspecified CASC19 +OMIM:617703 skos:exactMatch UMLS:C3813046 Unspecified CASC19 +OMIM:617703 skos:exactMatch HGNC_symbol:CASC19 Unspecified CASC19 +OMIM:617702 skos:exactMatch HGNC:49836 Unspecified CASC21 +OMIM:617702 skos:exactMatch UMLS:C3813048 Unspecified CASC21 +OMIM:617702 skos:exactMatch HGNC_symbol:CASC21 Unspecified CASC21 +OMIM:617705 skos:exactMatch UMLS:C3542813 Unspecified CCAT1 +OMIM:617705 skos:exactMatch HGNC:45128 Unspecified CCAT1 +OMIM:617705 skos:exactMatch HGNC_symbol:CCAT1 Unspecified CCAT1 +OMIM:617704 skos:exactMatch HGNC:48939 Unspecified CASC11 +OMIM:617704 skos:exactMatch HGNC_symbol:CASC11 Unspecified CASC11 +OMIM:617704 skos:exactMatch UMLS:C3811554 Unspecified CASC11 +OMIM:617707 skos:exactMatch UMLS:C4540185 Unspecified spermatogenic failure 23 +OMIM:617706 skos:exactMatch UMLS:C4540179 Unspecified spermatogenic failure 22 +OMIM:193500 skos:exactMatch ORPHA:894 Unspecified waardenburg syndrome, iia 1 +OMIM:193500 skos:exactMatch UMLS:C1847800 Unspecified waardenburg syndrome, iia 1 +OMIM:193500 skos:exactMatch ORPHA:3440 Unspecified waardenburg syndrome, iia 1 +OMIM:617709 skos:exactMatch UMLS:C4540188 Unspecified neurodevelopmental disorder with microcephaly, ataxia, and seizures +OMIM:617708 skos:exactMatch UMLS:C1824684 Unspecified CDC123 +OMIM:617708 skos:exactMatch HGNC:16827 Unspecified CDC123 +OMIM:617708 skos:exactMatch HGNC_symbol:CDC123 Unspecified CDC123 +OMIM:605730 skos:exactMatch UMLS:C1420339 Unspecified SPAG6 +OMIM:605730 skos:exactMatch HGNC_symbol:SPAG6 Unspecified SPAG6 +OMIM:605730 skos:exactMatch HGNC:11215 Unspecified SPAG6 +OMIM:605731 skos:exactMatch HGNC:14105 Unspecified SPAG8 +OMIM:605731 skos:exactMatch HGNC_symbol:SPAG8 Unspecified SPAG8 +OMIM:605731 skos:exactMatch UMLS:C1422410 Unspecified SPAG8 +OMIM:605712 skos:exactMatch HGNC:11277 Unspecified SPTLC1 +OMIM:605712 skos:exactMatch UMLS:C5231533 Unspecified SPTLC1 +OMIM:605712 skos:exactMatch UMLS:C4015968 Unspecified SPTLC1 +OMIM:605712 skos:exactMatch HGNC_symbol:SPTLC1 Unspecified SPTLC1 +OMIM:605712 skos:exactMatch UMLS:C1420390 Unspecified SPTLC1 +OMIM:605712 skos:exactMatch UMLS:C5235211 Unspecified SPTLC1 +OMIM:605713 skos:exactMatch HGNC:11278 Unspecified SPTLC2 +OMIM:605713 skos:exactMatch HGNC_symbol:SPTLC2 Unspecified SPTLC2 +OMIM:605713 skos:exactMatch UMLS:C1420391 Unspecified SPTLC2 +OMIM:605710 skos:exactMatch HGNC_symbol:GFRA3 Unspecified GFRA3 +OMIM:605710 skos:exactMatch HGNC:4245 Unspecified GFRA3 +OMIM:605710 skos:exactMatch UMLS:C1415049 Unspecified GFRA3 +OMIM:605711 skos:exactMatch UMLS:C3276432 Unspecified multiple mitochondrial dysfunctions syndrome 1 +OMIM:605716 skos:exactMatch HGNC:6254 Unspecified KCNH5 +OMIM:605716 skos:exactMatch UMLS:C1416575 Unspecified KCNH5 +OMIM:605716 skos:exactMatch HGNC_symbol:KCNH5 Unspecified KCNH5 +OMIM:605717 skos:exactMatch UMLS:C1424734 Unspecified ICOSLG +OMIM:605717 skos:exactMatch HGNC_symbol:ICOSLG Unspecified ICOSLG +OMIM:605717 skos:exactMatch HGNC:17087 Unspecified ICOSLG +OMIM:605714 skos:exactMatch UMLS:C2751536 Unspecified cerebral amyloid angiopathy, app-related +OMIM:605714 skos:exactMatch UMLS:C2931672 Unspecified cerebral amyloid angiopathy, app-related +OMIM:605715 skos:exactMatch HGNC:19137 Unspecified CD276 +OMIM:605715 skos:exactMatch HGNC_symbol:CD276 Unspecified CD276 +OMIM:605715 skos:exactMatch UMLS:C1540293 Unspecified CD276 +OMIM:605718 skos:exactMatch UMLS:C1537675 Unspecified MED4 +OMIM:605718 skos:exactMatch HGNC_symbol:MED4 Unspecified MED4 +OMIM:605718 skos:exactMatch HGNC:17903 Unspecified MED4 +OMIM:605719 skos:exactMatch HGNC:12749 Unspecified LAT2 +OMIM:605719 skos:exactMatch UMLS:C1825793 Unspecified LAT2 +OMIM:605719 skos:exactMatch HGNC_symbol:LAT2 Unspecified LAT2 +OMIM:193510 skos:exactMatch UMLS:C1860339 Unspecified waardenburg syndrome, iia 2a +OMIM:193510 skos:exactMatch ORPHA:895 Unspecified waardenburg syndrome, iia 2a +OMIM:193510 skos:exactMatch ORPHA:3440 Unspecified waardenburg syndrome, iia 2a +OMIM:605720 skos:exactMatch UMLS:C1416597 Unspecified KCNK4 +OMIM:605720 skos:exactMatch HGNC_symbol:KCNK4 Unspecified KCNK4 +OMIM:605720 skos:exactMatch HGNC:6279 Unspecified KCNK4 +OMIM:603126 skos:exactMatch HGNC_symbol:TPST2 Unspecified TPST2 +OMIM:603126 skos:exactMatch HGNC:12021 Unspecified TPST2 +OMIM:603126 skos:exactMatch UMLS:C1420881 Unspecified TPST2 +OMIM:605789 skos:exactMatch HGNC:6891 Unspecified MAPRE2 +OMIM:605789 skos:exactMatch HGNC_symbol:MAPRE2 Unspecified MAPRE2 +OMIM:605789 skos:exactMatch UMLS:C1417030 Unspecified MAPRE2 +OMIM:603125 skos:exactMatch HGNC_symbol:TPST1 Unspecified TPST1 +OMIM:603125 skos:exactMatch HGNC:12020 Unspecified TPST1 +OMIM:603125 skos:exactMatch UMLS:C1420880 Unspecified TPST1 +OMIM:605787 skos:exactMatch HGNC:13208 Unspecified ANKRA2 +OMIM:605787 skos:exactMatch HGNC_symbol:ANKRA2 Unspecified ANKRA2 +OMIM:605787 skos:exactMatch UMLS:C1421879 Unspecified ANKRA2 +OMIM:603128 skos:exactMatch HGNC_symbol:SIM1 Unspecified SIM1 +OMIM:603128 skos:exactMatch UMLS:C1420067 Unspecified SIM1 +OMIM:603128 skos:exactMatch HGNC:10882 Unspecified SIM1 +OMIM:605788 skos:exactMatch HGNC_symbol:MAPRE3 Unspecified MAPRE3 +OMIM:605788 skos:exactMatch HGNC:6892 Unspecified MAPRE3 +OMIM:605788 skos:exactMatch UMLS:C1417031 Unspecified MAPRE3 +OMIM:603127 skos:exactMatch UMLS:C1414992 Unspecified GAS7 +OMIM:603127 skos:exactMatch HGNC_symbol:GAS7 Unspecified GAS7 +OMIM:603127 skos:exactMatch HGNC:4169 Unspecified GAS7 +OMIM:603129 skos:exactMatch UMLS:C1416883 Unspecified LMO4 +OMIM:603129 skos:exactMatch HGNC_symbol:LMO4 Unspecified LMO4 +OMIM:603129 skos:exactMatch HGNC:6644 Unspecified LMO4 +OMIM:617770 skos:exactMatch UMLS:C4540404 Unspecified spinocerebellar ataxia 46 +OMIM:617772 skos:exactMatch UMLS:C4521680 Unspecified deafness, autosomal dominant 34, with or without inflammation +OMIM:617771 skos:exactMatch UMLS:C4540411 Unspecified developmental and epileptic encephalopathy 57 +OMIM:615110 skos:exactMatch UMLS:C1538098 Unspecified WDR53 +OMIM:615110 skos:exactMatch HGNC_symbol:WDR53 Unspecified WDR53 +OMIM:615110 skos:exactMatch HGNC:28786 Unspecified WDR53 +OMIM:617774 skos:exactMatch HGNC_symbol:LONP2 Unspecified LONP2 +OMIM:617774 skos:exactMatch UMLS:C1825869 Unspecified LONP2 +OMIM:617774 skos:exactMatch HGNC:20598 Unspecified LONP2 +OMIM:615111 skos:exactMatch HGNC:26192 Unspecified DENND2D +OMIM:615111 skos:exactMatch UMLS:C1824911 Unspecified DENND2D +OMIM:615111 skos:exactMatch HGNC_symbol:DENND2D Unspecified DENND2D +OMIM:617773 skos:exactMatch UMLS:C4540424 Unspecified intellectual developmental disorder, autosomal recessive 61 +OMIM:615112 skos:exactMatch UMLS:C3554520 Unspecified urofacial syndrome 2 +OMIM:617776 skos:exactMatch HGNC:15723 Unspecified BAGE2 +OMIM:617776 skos:exactMatch HGNC_symbol:BAGE2 Unspecified BAGE2 +OMIM:617776 skos:exactMatch UMLS:C1423686 Unspecified BAGE2 +OMIM:615113 skos:exactMatch UMLS:C3554524 Unspecified microphthalmia, isolated 8 +OMIM:615114 skos:exactMatch HGNC:28990 Unspecified ZNF516 +OMIM:615114 skos:exactMatch HGNC_symbol:ZNF516 Unspecified ZNF516 +OMIM:615114 skos:exactMatch UMLS:C1428766 Unspecified ZNF516 +OMIM:617775 skos:exactMatch HGNC:31428 Unspecified C10ORF99 +OMIM:617775 skos:exactMatch UMLS:C1538399 Unspecified C10ORF99 +OMIM:617775 skos:exactMatch HGNC_symbol:C10orf99 Unspecified C10ORF99 +OMIM:615104 skos:exactMatch HGNC_symbol:NCKAP5L Unspecified NCKAP5L +OMIM:615104 skos:exactMatch UMLS:C1825693 Unspecified NCKAP5L +OMIM:615104 skos:exactMatch HGNC:29321 Unspecified NCKAP5L +OMIM:617767 skos:exactMatch UMLS:C4540389 Unspecified joubert syndrome 33 +OMIM:617766 skos:exactMatch HGNC:29856 Unspecified FAM192A +OMIM:617766 skos:exactMatch HGNC_symbol:PSME3IP1 Unspecified FAM192A +OMIM:617766 skos:exactMatch UMLS:C2829371 Unspecified FAM192A +OMIM:615105 skos:exactMatch HGNC:28469 Unspecified MRI1 +OMIM:615105 skos:exactMatch HGNC_symbol:MRI1 Unspecified MRI1 +OMIM:615105 skos:exactMatch UMLS:C2681840 Unspecified MRI1 +OMIM:617769 skos:exactMatch UMLS:C4540400 Unspecified spinocerebellar ataxia 45 +OMIM:617768 skos:exactMatch UMLS:C4540395 Unspecified kleefstra syndrome 2 +OMIM:615107 skos:exactMatch UMLS:C3554517 Unspecified cowden syndrome 4 +OMIM:615108 skos:exactMatch UMLS:C3554518 Unspecified cowden syndrome 5 +OMIM:615109 skos:exactMatch UMLS:C3554519 Unspecified cowden syndrome 6 +OMIM:605792 skos:exactMatch HGNC:11737 Unspecified TEX14 +OMIM:605792 skos:exactMatch HGNC_symbol:TEX14 Unspecified TEX14 +OMIM:605792 skos:exactMatch UMLS:C1420694 Unspecified TEX14 +OMIM:605793 skos:exactMatch UMLS:C1419418 Unspecified RNF17 +OMIM:605793 skos:exactMatch HGNC_symbol:RNF17 Unspecified RNF17 +OMIM:605793 skos:exactMatch HGNC:10060 Unspecified RNF17 +OMIM:603131 skos:exactMatch HGNC_symbol:PMPCB Unspecified PMPCB +OMIM:603131 skos:exactMatch UMLS:C1418678 Unspecified PMPCB +OMIM:603131 skos:exactMatch HGNC:9119 Unspecified PMPCB +OMIM:605790 skos:exactMatch HGNC:11407 Unspecified STK31 +OMIM:605790 skos:exactMatch UMLS:C1420480 Unspecified STK31 +OMIM:605790 skos:exactMatch HGNC_symbol:STK31 Unspecified STK31 +OMIM:603130 skos:exactMatch UMLS:C1412696 Unspecified ATRN +OMIM:603130 skos:exactMatch HGNC_symbol:ATRN Unspecified ATRN +OMIM:603130 skos:exactMatch HGNC:885 Unspecified ATRN +OMIM:605791 skos:exactMatch HGNC:11734 Unspecified TEX12 +OMIM:605791 skos:exactMatch HGNC_symbol:TEX12 Unspecified TEX12 +OMIM:605791 skos:exactMatch UMLS:C1420691 Unspecified TEX12 +OMIM:605796 skos:exactMatch HGNC:11712 Unspecified TDRD1 +OMIM:605796 skos:exactMatch HGNC_symbol:TDRD1 Unspecified TDRD1 +OMIM:605796 skos:exactMatch UMLS:C1420677 Unspecified TDRD1 +OMIM:603133 skos:exactMatch UMLS:C1864183 Unspecified dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation +OMIM:605797 skos:exactMatch HGNC_symbol:ASZ1 Unspecified ASZ1 +OMIM:605797 skos:exactMatch UMLS:C1540210 Unspecified ASZ1 +OMIM:605797 skos:exactMatch HGNC:1350 Unspecified ASZ1 +OMIM:603132 skos:exactMatch HGNC:12980 Unspecified ZNF189 +OMIM:603132 skos:exactMatch UMLS:C1421678 Unspecified ZNF189 +OMIM:603132 skos:exactMatch HGNC_symbol:ZNF189 Unspecified ZNF189 +OMIM:603135 skos:exactMatch HGNC_symbol:CUL2 Unspecified CUL2 +OMIM:603135 skos:exactMatch UMLS:C1332810 Unspecified CUL2 +OMIM:603135 skos:exactMatch HGNC:2552 Unspecified CUL2 +OMIM:605794 skos:exactMatch UMLS:C1417231 Unspecified MOV10L1 +OMIM:605794 skos:exactMatch HGNC_symbol:MOV10L1 Unspecified MOV10L1 +OMIM:605794 skos:exactMatch HGNC:7201 Unspecified MOV10L1 +OMIM:603134 skos:exactMatch HGNC_symbol:CUL1 Unspecified CUL1 +OMIM:603134 skos:exactMatch UMLS:C1332809 Unspecified CUL1 +OMIM:603134 skos:exactMatch HGNC:2551 Unspecified CUL1 +OMIM:605795 skos:exactMatch HGNC:11738 Unspecified TEX15 +OMIM:605795 skos:exactMatch HGNC_symbol:TEX15 Unspecified TEX15 +OMIM:605795 skos:exactMatch UMLS:C1420695 Unspecified TEX15 +OMIM:605778 skos:exactMatch HGNC:13390 Unspecified NIF3L1 +OMIM:605778 skos:exactMatch HGNC_symbol:NIF3L1 Unspecified NIF3L1 +OMIM:605778 skos:exactMatch UMLS:C1421971 Unspecified NIF3L1 +OMIM:603115 skos:exactMatch HGNC:2750 Unspecified DHX9 +OMIM:603115 skos:exactMatch HGNC_symbol:DHX9 Unspecified DHX9 +OMIM:603115 skos:exactMatch UMLS:C1413966 Unspecified DHX9 +OMIM:605779 skos:exactMatch UMLS:C1853984 Unspecified nail disorder, nonsyndromic congenital, 7 +OMIM:603114 skos:exactMatch UMLS:C1335795 Unspecified S100A11 +OMIM:603114 skos:exactMatch HGNC:10488 Unspecified S100A11 +OMIM:603114 skos:exactMatch HGNC_symbol:S100A11 Unspecified S100A11 +OMIM:605776 skos:exactMatch UMLS:C1414608 Unspecified FGL1 +OMIM:605776 skos:exactMatch HGNC_symbol:FGL1 Unspecified FGL1 +OMIM:605776 skos:exactMatch HGNC:3695 Unspecified FGL1 +OMIM:603117 skos:exactMatch UMLS:C1864185 Unspecified spastic paraplegia, optic atrophy, microcephaly, and 10y sex reversal +OMIM:605777 skos:exactMatch HGNC:14240 Unspecified SMPD3 +OMIM:605777 skos:exactMatch HGNC_symbol:SMPD3 Unspecified SMPD3 +OMIM:605777 skos:exactMatch UMLS:C1422502 Unspecified SMPD3 +OMIM:603116 skos:exactMatch UMLS:C1864186 Unspecified cdags syndrome +OMIM:603119 skos:exactMatch UMLS:C1864184 Unspecified apraxia of eyelid opening +OMIM:603118 skos:exactMatch UMLS:C1413273 Unspecified CDH16 +OMIM:603118 skos:exactMatch HGNC:1755 Unspecified CDH16 +OMIM:603118 skos:exactMatch HGNC_symbol:CDH16 Unspecified CDH16 +OMIM:617761 skos:exactMatch UMLS:C4540355 Unspecified joubert syndrome 31 +OMIM:617760 skos:exactMatch UMLS:C4540345 Unspecified myopathy, centronuclear, 6, with fiber-type disproportion +OMIM:615100 skos:exactMatch HGNC_symbol:CTTNBP2NL Unspecified CTTNBP2NL +OMIM:615100 skos:exactMatch HGNC:25330 Unspecified CTTNBP2NL +OMIM:615100 skos:exactMatch UMLS:C1824813 Unspecified CTTNBP2NL +OMIM:617763 skos:exactMatch UMLS:C4540367 Unspecified short stature, hearing loss, retinitis pigmentosa, and distinctive facies +OMIM:615101 skos:exactMatch UMLS:C1823552 Unspecified TUBB2A +OMIM:615101 skos:exactMatch HGNC:12412 Unspecified TUBB2A +OMIM:615101 skos:exactMatch HGNC_symbol:TUBB2A Unspecified TUBB2A +OMIM:617762 skos:exactMatch UMLS:C4540358 Unspecified leukodystrophy, progressive, early childhood-onset +OMIM:615102 skos:exactMatch UMLS:C3554774 Unspecified tyshchenko syndrome +OMIM:617765 skos:exactMatch UMLS:C4540380 Unspecified immunodeficiency, common variable, 14 +OMIM:617764 skos:exactMatch UMLS:C1823940 Unspecified ZER1 +OMIM:617764 skos:exactMatch HGNC_symbol:ZER1 Unspecified ZER1 +OMIM:617764 skos:exactMatch HGNC:30960 Unspecified ZER1 +OMIM:181590 skos:exactMatch UMLS:C2675187 Unspecified STIL +OMIM:181590 skos:exactMatch HGNC_symbol:STIL Unspecified STIL +OMIM:181590 skos:exactMatch UMLS:C1420065 Unspecified STIL +OMIM:181590 skos:exactMatch HGNC:10879 Unspecified STIL +OMIM:615103 skos:exactMatch HGNC:20776 Unspecified TUBB6 +OMIM:615103 skos:exactMatch HGNC_symbol:TUBB6 Unspecified TUBB6 +OMIM:615103 skos:exactMatch UMLS:C1540128 Unspecified TUBB6 +OMIM:617756 skos:exactMatch UMLS:C4540331 Unspecified erythrokeratodermia variabilis et progressiva 5 +OMIM:617755 skos:exactMatch UMLS:C4540327 Unspecified neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +OMIM:617758 skos:exactMatch HGNC_symbol:ZNF692 Unspecified ZNF692 +OMIM:617758 skos:exactMatch HGNC:26049 Unspecified ZNF692 +OMIM:617758 skos:exactMatch UMLS:C1823993 Unspecified ZNF692 +OMIM:617757 skos:exactMatch UMLS:C4540342 Unspecified joubert syndrome 32 +OMIM:617759 skos:exactMatch HGNC:28437 Unspecified RPUSD3 +OMIM:617759 skos:exactMatch HGNC_symbol:RPUSD3 Unspecified RPUSD3 +OMIM:617759 skos:exactMatch UMLS:C1539699 Unspecified RPUSD3 +OMIM:276300 skos:exactMatch ORPHA:252202 Unspecified mismatch repair cancer syndrome 1 +OMIM:276300 skos:exactMatch UMLS:C5399763 Unspecified mismatch repair cancer syndrome 1 +OMIM:276300 skos:exactMatch UMLS:C0265325 Unspecified mismatch repair cancer syndrome 1 +OMIM:252350 skos:exactMatch UMLS:C2931384 Unspecified moyamoya disease 1 +OMIM:605781 skos:exactMatch UMLS:C1412517 Unspecified RHOD +OMIM:605781 skos:exactMatch HGNC_symbol:RHOD Unspecified RHOD +OMIM:605781 skos:exactMatch HGNC:670 Unspecified RHOD +OMIM:605782 skos:exactMatch HGNC:3301 Unspecified EIF5A2 +OMIM:605782 skos:exactMatch UMLS:C1414361 Unspecified EIF5A2 +OMIM:605782 skos:exactMatch HGNC_symbol:EIF5A2 Unspecified EIF5A2 +OMIM:603120 skos:exactMatch UMLS:C1419185 Unspecified QSOX1 +OMIM:603120 skos:exactMatch HGNC_symbol:QSOX1 Unspecified QSOX1 +OMIM:603120 skos:exactMatch HGNC:9756 Unspecified QSOX1 +OMIM:605780 skos:exactMatch HGNC_symbol:PRDM4 Unspecified PRDM4 +OMIM:605780 skos:exactMatch HGNC:9348 Unspecified PRDM4 +OMIM:605780 skos:exactMatch UMLS:C1335254 Unspecified PRDM4 +OMIM:603122 skos:exactMatch HGNC_symbol:DOCK2 Unspecified DOCK2 +OMIM:603122 skos:exactMatch UMLS:C1414128 Unspecified DOCK2 +OMIM:603122 skos:exactMatch HGNC:2988 Unspecified DOCK2 +OMIM:605785 skos:exactMatch HGNC_symbol:TUBG2 Unspecified TUBG2 +OMIM:605785 skos:exactMatch HGNC:12419 Unspecified TUBG2 +OMIM:605785 skos:exactMatch UMLS:C1421237 Unspecified TUBG2 +OMIM:605786 skos:exactMatch HGNC_symbol:RBMS3 Unspecified RBMS3 +OMIM:605786 skos:exactMatch HGNC:13427 Unspecified RBMS3 +OMIM:605786 skos:exactMatch UMLS:C1421986 Unspecified RBMS3 +OMIM:605783 skos:exactMatch UMLS:C1332388 Unspecified BCAS2 +OMIM:605783 skos:exactMatch HGNC_symbol:BCAS2 Unspecified BCAS2 +OMIM:605783 skos:exactMatch HGNC:975 Unspecified BCAS2 +OMIM:603124 skos:exactMatch HGNC_symbol:UBE2G2 Unspecified UBE2G2 +OMIM:603124 skos:exactMatch HGNC:12483 Unspecified UBE2G2 +OMIM:603124 skos:exactMatch UMLS:C1421281 Unspecified UBE2G2 +OMIM:603123 skos:exactMatch HGNC_symbol:DOCK3 Unspecified DOCK3 +OMIM:603123 skos:exactMatch UMLS:C4749014 Unspecified DOCK3 +OMIM:603123 skos:exactMatch UMLS:C1414129 Unspecified DOCK3 +OMIM:603123 skos:exactMatch HGNC:2989 Unspecified DOCK3 +OMIM:605784 skos:exactMatch HGNC:13476 Unspecified TTYH1 +OMIM:605784 skos:exactMatch UMLS:C1422010 Unspecified TTYH1 +OMIM:605784 skos:exactMatch HGNC_symbol:TTYH1 Unspecified TTYH1 +OMIM:603104 skos:exactMatch HGNC:2313 Unspecified CPN2 +OMIM:603104 skos:exactMatch UMLS:C1413674 Unspecified CPN2 +OMIM:603104 skos:exactMatch HGNC_symbol:CPN2 Unspecified CPN2 +OMIM:605767 skos:exactMatch HGNC:30043 Unspecified PAG1 +OMIM:605767 skos:exactMatch HGNC_symbol:PAG1 Unspecified PAG1 +OMIM:605767 skos:exactMatch UMLS:C1538565 Unspecified PAG1 +OMIM:603103 skos:exactMatch HGNC:2312 Unspecified CPN1 +OMIM:603103 skos:exactMatch UMLS:C1413673 Unspecified CPN1 +OMIM:603103 skos:exactMatch HGNC_symbol:CPN1 Unspecified CPN1 +OMIM:605768 skos:exactMatch HGNC:16500 Unspecified None +OMIM:605768 skos:exactMatch HGNC_symbol:DAPP1 Unspecified None +OMIM:605768 skos:exactMatch UMLS:C1424332 Unspecified None +OMIM:605765 skos:exactMatch UMLS:C1333221 Unspecified DLEU1 +OMIM:605765 skos:exactMatch HGNC:13747 Unspecified DLEU1 +OMIM:605765 skos:exactMatch HGNC_symbol:DLEU1 Unspecified DLEU1 +OMIM:603106 skos:exactMatch UMLS:C1417747 Unspecified NNAT +OMIM:603106 skos:exactMatch HGNC_symbol:NNAT Unspecified NNAT +OMIM:603106 skos:exactMatch HGNC:7860 Unspecified NNAT +OMIM:603105 skos:exactMatch HGNC:2333 Unspecified CPZ +OMIM:603105 skos:exactMatch HGNC_symbol:CPZ Unspecified CPZ +OMIM:603105 skos:exactMatch UMLS:C1413693 Unspecified CPZ +OMIM:605766 skos:exactMatch UMLS:C1333223 Unspecified DLEU2 +OMIM:605766 skos:exactMatch HGNC:13748 Unspecified DLEU2 +OMIM:605766 skos:exactMatch HGNC_symbol:DLEU2 Unspecified DLEU2 +OMIM:603108 skos:exactMatch UMLS:C1334483 Unspecified MAPRE1 +OMIM:603108 skos:exactMatch HGNC_symbol:MAPRE1 Unspecified MAPRE1 +OMIM:603108 skos:exactMatch HGNC:6890 Unspecified MAPRE1 +OMIM:603107 skos:exactMatch UMLS:C1420637 Unspecified TCF20 +OMIM:603107 skos:exactMatch HGNC_symbol:TCF20 Unspecified TCF20 +OMIM:603107 skos:exactMatch HGNC:11631 Unspecified TCF20 +OMIM:605769 skos:exactMatch HGNC:16290 Unspecified TRIM33 +OMIM:605769 skos:exactMatch UMLS:C1853992 Unspecified TRIM33 +OMIM:605769 skos:exactMatch HGNC_symbol:TRIM33 Unspecified TRIM33 +OMIM:605769 skos:exactMatch UMLS:C1424158 Unspecified TRIM33 +OMIM:603109 skos:exactMatch HGNC_symbol:SMAD3 Unspecified SMAD3 +OMIM:603109 skos:exactMatch UMLS:C0919432 Unspecified SMAD3 +OMIM:603109 skos:exactMatch HGNC:6769 Unspecified SMAD3 +OMIM:603109 skos:exactMatch UMLS:C3151087 Unspecified SMAD3 +OMIM:617750 skos:exactMatch UMLS:C2239652 Unspecified LIMCH1 +OMIM:617750 skos:exactMatch HGNC_symbol:LIMCH1 Unspecified LIMCH1 +OMIM:617750 skos:exactMatch HGNC:29191 Unspecified LIMCH1 +OMIM:617752 skos:exactMatch ORPHA:600731 Unspecified clark-baraitser syndrome +OMIM:617752 skos:exactMatch UMLS:C2931130 Unspecified clark-baraitser syndrome +OMIM:617751 skos:exactMatch UMLS:C4540321 Unspecified mental retardation, autosomal dominant 48 +OMIM:617754 skos:exactMatch UMLS:C1425941 Unspecified RIOK2 +OMIM:617754 skos:exactMatch HGNC_symbol:RIOK2 Unspecified RIOK2 +OMIM:617754 skos:exactMatch HGNC:18999 Unspecified RIOK2 +OMIM:617753 skos:exactMatch UMLS:C1425683 Unspecified RIOK1 +OMIM:617753 skos:exactMatch HGNC_symbol:RIOK1 Unspecified RIOK1 +OMIM:617753 skos:exactMatch HGNC:18656 Unspecified RIOK1 +OMIM:617745 skos:exactMatch HGNC:28299 Unspecified MFSD12 +OMIM:617745 skos:exactMatch HGNC_symbol:MFSD12 Unspecified MFSD12 +OMIM:617745 skos:exactMatch UMLS:C4694043 Unspecified MFSD12 +OMIM:617745 skos:exactMatch UMLS:C3470954 Unspecified MFSD12 +OMIM:617744 skos:exactMatch UMLS:C4540293 Unspecified immunodeficiency, developmental delay, and hypohomocysteinemia +OMIM:617747 skos:exactMatch HGNC_symbol:SP140L Unspecified SP140L +OMIM:617747 skos:exactMatch HGNC:25105 Unspecified SP140L +OMIM:617747 skos:exactMatch UMLS:C2680437 Unspecified SP140L +OMIM:617746 skos:exactMatch UMLS:C4540299 Unspecified sweeney-cox syndrome +OMIM:617749 skos:exactMatch UMLS:C3888204 Unspecified actn3 deficiency +OMIM:617749 skos:exactMatch UMLS:C3888203 Unspecified actn3 deficiency +OMIM:252320 skos:exactMatch UMLS:C1854961 Unspecified motor neuropathy, peripheral, with dysautonomia +OMIM:617748 skos:exactMatch UMLS:C1427033 Unspecified TDRD5 +OMIM:617748 skos:exactMatch HGNC:20614 Unspecified TDRD5 +OMIM:617748 skos:exactMatch HGNC_symbol:TDRD5 Unspecified TDRD5 +OMIM:605770 skos:exactMatch HGNC:6041 Unspecified ILVBL +OMIM:605770 skos:exactMatch HGNC_symbol:ILVBL Unspecified ILVBL +OMIM:605770 skos:exactMatch UMLS:C1416422 Unspecified ILVBL +OMIM:605771 skos:exactMatch UMLS:C1332777 Unspecified COX7A2L +OMIM:605771 skos:exactMatch HGNC_symbol:COX7A2L Unspecified COX7A2L +OMIM:605771 skos:exactMatch HGNC:2289 Unspecified COX7A2L +OMIM:603111 skos:exactMatch UMLS:C1335850 Unspecified SMARCE1 +OMIM:603111 skos:exactMatch HGNC:11109 Unspecified SMARCE1 +OMIM:603111 skos:exactMatch HGNC_symbol:SMARCE1 Unspecified SMARCE1 +OMIM:605774 skos:exactMatch HGNC:6353 Unspecified KLHL2 +OMIM:605774 skos:exactMatch HGNC_symbol:KLHL2 Unspecified KLHL2 +OMIM:605774 skos:exactMatch UMLS:C1416665 Unspecified KLHL2 +OMIM:603110 skos:exactMatch HGNC:6771 Unspecified SMAD5 +OMIM:603110 skos:exactMatch HGNC_symbol:SMAD5 Unspecified SMAD5 +OMIM:603110 skos:exactMatch UMLS:C1416963 Unspecified SMAD5 +OMIM:605775 skos:exactMatch HGNC:6354 Unspecified KLHL3 +OMIM:605775 skos:exactMatch HGNC_symbol:KLHL3 Unspecified KLHL3 +OMIM:605775 skos:exactMatch UMLS:C1416666 Unspecified KLHL3 +OMIM:603113 skos:exactMatch HGNC:9303 Unspecified PPP2R1B +OMIM:603113 skos:exactMatch UMLS:C1335243 Unspecified PPP2R1B +OMIM:603113 skos:exactMatch HGNC_symbol:PPP2R1B Unspecified PPP2R1B +OMIM:605772 skos:exactMatch HGNC:3123 Unspecified EBAG9 +OMIM:605772 skos:exactMatch HGNC_symbol:EBAG9 Unspecified EBAG9 +OMIM:605772 skos:exactMatch UMLS:C1414231 Unspecified EBAG9 +OMIM:605773 skos:exactMatch HGNC:19260 Unspecified LTB4R2 +OMIM:605773 skos:exactMatch HGNC_symbol:LTB4R2 Unspecified LTB4R2 +OMIM:605773 skos:exactMatch UMLS:C1426125 Unspecified LTB4R2 +OMIM:603112 skos:exactMatch UMLS:C1335796 Unspecified S100A12 +OMIM:603112 skos:exactMatch HGNC:10489 Unspecified S100A12 +OMIM:603112 skos:exactMatch HGNC_symbol:S100A12 Unspecified S100A12 +OMIM:605756 skos:exactMatch UMLS:C3148970 Unspecified ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis +OMIM:605757 skos:exactMatch HGNC:8829 Unspecified PELO +OMIM:605757 skos:exactMatch HGNC_symbol:PELO Unspecified PELO +OMIM:605757 skos:exactMatch UMLS:C1418455 Unspecified PELO +OMIM:605754 skos:exactMatch HGNC:14135 Unspecified PIGQ +OMIM:605754 skos:exactMatch UMLS:C5231405 Unspecified PIGQ +OMIM:605754 skos:exactMatch HGNC_symbol:PIGQ Unspecified PIGQ +OMIM:605754 skos:exactMatch UMLS:C1422429 Unspecified PIGQ +OMIM:605755 skos:exactMatch UMLS:C1425339 Unspecified DCDC2 +OMIM:605755 skos:exactMatch UMLS:C4479344 Unspecified DCDC2 +OMIM:605755 skos:exactMatch UMLS:C1857750 Unspecified DCDC2 +OMIM:605755 skos:exactMatch HGNC_symbol:DCDC2 Unspecified DCDC2 +OMIM:605755 skos:exactMatch UMLS:C4015542 Unspecified DCDC2 +OMIM:605755 skos:exactMatch HGNC:18141 Unspecified DCDC2 +OMIM:605758 skos:exactMatch HGNC:16011 Unspecified ASB1 +OMIM:605758 skos:exactMatch UMLS:C1423907 Unspecified ASB1 +OMIM:605758 skos:exactMatch HGNC_symbol:ASB1 Unspecified ASB1 +OMIM:605759 skos:exactMatch HGNC:16012 Unspecified ASB2 +OMIM:605759 skos:exactMatch UMLS:C1423908 Unspecified ASB2 +OMIM:605759 skos:exactMatch HGNC_symbol:ASB2 Unspecified ASB2 +OMIM:264300 skos:exactMatch UMLS:C0268296 Unspecified 17-beta hydroxysteroid dehydrogenase 3 deficiency +OMIM:264300 skos:exactMatch UMLS:C4694050 Unspecified 17-beta hydroxysteroid dehydrogenase 3 deficiency +OMIM:617741 skos:exactMatch UMLS:C1426317 Unspecified WDR20 +OMIM:617741 skos:exactMatch HGNC_symbol:WDR20 Unspecified WDR20 +OMIM:617741 skos:exactMatch HGNC:19667 Unspecified WDR20 +OMIM:617740 skos:exactMatch HGNC:27111 Unspecified VSIG10L +OMIM:617740 skos:exactMatch UMLS:C2829141 Unspecified VSIG10L +OMIM:617740 skos:exactMatch HGNC_symbol:VSIG10L Unspecified VSIG10L +OMIM:617743 skos:exactMatch UMLS:C4540284 Unspecified oocyte maturation defect 4 +OMIM:617742 skos:exactMatch HGNC_symbol:KANSL3 Unspecified KANSL3 +OMIM:617742 skos:exactMatch UMLS:C2239561 Unspecified KANSL3 +OMIM:617742 skos:exactMatch HGNC:25473 Unspecified KANSL3 +OMIM:311350 skos:exactMatch UMLS:C1839502 Unspecified ouabain resistance +OMIM:311360 skos:exactMatch UMLS:C3494522 Unspecified premature ovarian failure 1 +OMIM:311360 skos:exactMatch ORPHA:908 Unspecified premature ovarian failure 1 +OMIM:311360 skos:exactMatch UMLS:C4552079 Unspecified premature ovarian failure 1 +OMIM:311360 skos:exactMatch UMLS:C0085215 Unspecified premature ovarian failure 1 +OMIM:617734 skos:exactMatch HGNC:29365 Unspecified ZNF518B +OMIM:617734 skos:exactMatch HGNC_symbol:ZNF518B Unspecified ZNF518B +OMIM:617734 skos:exactMatch UMLS:C2240211 Unspecified ZNF518B +OMIM:617733 skos:exactMatch HGNC:29009 Unspecified ZNF518A +OMIM:617733 skos:exactMatch HGNC_symbol:ZNF518A Unspecified ZNF518A +OMIM:617733 skos:exactMatch UMLS:C1538191 Unspecified ZNF518A +OMIM:617736 skos:exactMatch UMLS:C1428334 Unspecified MORN4 +OMIM:617736 skos:exactMatch HGNC_symbol:MORN4 Unspecified MORN4 +OMIM:617736 skos:exactMatch HGNC:24001 Unspecified MORN4 +OMIM:617735 skos:exactMatch HGNC_symbol:C10orf90 Unspecified C10ORF90 +OMIM:617735 skos:exactMatch UMLS:C1428607 Unspecified C10ORF90 +OMIM:617735 skos:exactMatch HGNC:26563 Unspecified C10ORF90 +OMIM:617738 skos:exactMatch UMLS:C1428474 Unspecified KBTBD6 +OMIM:617738 skos:exactMatch HGNC_symbol:KBTBD6 Unspecified KBTBD6 +OMIM:617738 skos:exactMatch HGNC:25340 Unspecified KBTBD6 +OMIM:617737 skos:exactMatch HGNC:21416 Unspecified SMPDL3B +OMIM:617737 skos:exactMatch HGNC_symbol:SMPDL3B Unspecified SMPDL3B +OMIM:617737 skos:exactMatch UMLS:C1539792 Unspecified SMPDL3B +OMIM:617739 skos:exactMatch UMLS:C1428464 Unspecified KBTBD7 +OMIM:617739 skos:exactMatch HGNC_symbol:KBTBD7 Unspecified KBTBD7 +OMIM:617739 skos:exactMatch HGNC:25266 Unspecified KBTBD7 +OMIM:605760 skos:exactMatch UMLS:C1423909 Unspecified ASB3 +OMIM:605760 skos:exactMatch HGNC_symbol:ASB3 Unspecified ASB3 +OMIM:605760 skos:exactMatch HGNC:16013 Unspecified ASB3 +OMIM:603100 skos:exactMatch HGNC_symbol:AGPAT2 Unspecified AGPAT2 +OMIM:603100 skos:exactMatch UMLS:C1412282 Unspecified AGPAT2 +OMIM:603100 skos:exactMatch HGNC:325 Unspecified AGPAT2 +OMIM:605763 skos:exactMatch HGNC:17939 Unspecified SLC45A1 +OMIM:605763 skos:exactMatch UMLS:C1822763 Unspecified SLC45A1 +OMIM:605763 skos:exactMatch HGNC_symbol:SLC45A1 Unspecified SLC45A1 +OMIM:605764 skos:exactMatch HGNC_symbol:TDP2 Unspecified TDP2 +OMIM:605764 skos:exactMatch HGNC:17768 Unspecified TDP2 +OMIM:605764 skos:exactMatch UMLS:C1425071 Unspecified TDP2 +OMIM:603102 skos:exactMatch HGNC_symbol:CPD Unspecified CPD +OMIM:603102 skos:exactMatch UMLS:C1413667 Unspecified CPD +OMIM:603102 skos:exactMatch HGNC:2301 Unspecified CPD +OMIM:605761 skos:exactMatch UMLS:C1423906 Unspecified ASB4 +OMIM:605761 skos:exactMatch HGNC_symbol:ASB4 Unspecified ASB4 +OMIM:605761 skos:exactMatch HGNC:16009 Unspecified ASB4 +OMIM:603101 skos:exactMatch UMLS:C1413666 Unspecified CPB2 +OMIM:603101 skos:exactMatch HGNC_symbol:CPB2 Unspecified CPB2 +OMIM:603101 skos:exactMatch HGNC:2300 Unspecified CPB2 +OMIM:605762 skos:exactMatch HGNC:9833 Unspecified MOK +OMIM:605762 skos:exactMatch HGNC_symbol:MOK Unspecified MOK +OMIM:605762 skos:exactMatch UMLS:C1366622 Unspecified MOK +OMIM:615270 skos:exactMatch UMLS:C3808983 Unspecified hypogonadotropic hypogonadism 20 with or without anosmia +OMIM:615271 skos:exactMatch UMLS:C3808986 Unspecified hypogonadotropic hypogonadism 21 with or without anosmia +OMIM:301800 skos:exactMatch UMLS:C0003466 Unspecified anus, imperforate +OMIM:615272 skos:exactMatch UMLS:C3808988 Unspecified fanconi anemia, complementation group q +OMIM:615273 skos:exactMatch ORPHA:404454 Unspecified congenital disorder of deglycosylation 1 +OMIM:615273 skos:exactMatch UMLS:C3808991 Unspecified congenital disorder of deglycosylation 1 +OMIM:615274 skos:exactMatch UMLS:C3809001 Unspecified cataract 15, multiple types +OMIM:615275 skos:exactMatch HGNC_symbol:ACOD1 Unspecified ACOD1 +OMIM:615275 skos:exactMatch HGNC:33904 Unspecified ACOD1 +OMIM:615275 skos:exactMatch UMLS:C2239547 Unspecified ACOD1 +OMIM:615276 skos:exactMatch HGNC_symbol:CERS3 Unspecified CERS3 +OMIM:615276 skos:exactMatch HGNC:23752 Unspecified CERS3 +OMIM:615276 skos:exactMatch UMLS:C3469889 Unspecified CERS3 +OMIM:615277 skos:exactMatch UMLS:C3809004 Unspecified cataract 19, multiple types +OMIM:615278 skos:exactMatch ORPHA:1340 Unspecified cardiofaciocutaneous syndrome 2 +OMIM:615278 skos:exactMatch UMLS:C3809005 Unspecified cardiofaciocutaneous syndrome 2 +OMIM:615279 skos:exactMatch ORPHA:1340 Unspecified cardiofaciocutaneous syndrome 3 +OMIM:615279 skos:exactMatch UMLS:C3809006 Unspecified cardiofaciocutaneous syndrome 3 +OMIM:191060 skos:exactMatch UMLS:C1420870 Unspecified TPH1 +OMIM:191060 skos:exactMatch HGNC_symbol:TPH1 Unspecified TPH1 +OMIM:191060 skos:exactMatch HGNC:12008 Unspecified TPH1 +OMIM:615269 skos:exactMatch UMLS:C3808981 Unspecified hypogonadotropic hypogonadism 19 with or without anosmia +OMIM:603290 skos:exactMatch HGNC:14295 Unspecified SHANK2 +OMIM:603290 skos:exactMatch UMLS:C1422551 Unspecified SHANK2 +OMIM:603290 skos:exactMatch HGNC_symbol:SHANK2 Unspecified SHANK2 +OMIM:603292 skos:exactMatch HGNC_symbol:BNIP2 Unspecified BNIP2 +OMIM:603292 skos:exactMatch HGNC:1083 Unspecified BNIP2 +OMIM:603292 skos:exactMatch UMLS:C1412811 Unspecified BNIP2 +OMIM:603291 skos:exactMatch HGNC_symbol:BNIP1 Unspecified BNIP1 +OMIM:603291 skos:exactMatch HGNC:1082 Unspecified BNIP1 +OMIM:603291 skos:exactMatch UMLS:C1412810 Unspecified BNIP1 +OMIM:603294 skos:exactMatch HGNC:6946 Unspecified MCM3AP +OMIM:603294 skos:exactMatch HGNC_symbol:MCM3AP Unspecified MCM3AP +OMIM:603294 skos:exactMatch UMLS:C1417072 Unspecified MCM3AP +OMIM:603293 skos:exactMatch HGNC_symbol:BNIP3 Unspecified BNIP3 +OMIM:603293 skos:exactMatch HGNC:1084 Unspecified BNIP3 +OMIM:603293 skos:exactMatch UMLS:C1412812 Unspecified BNIP3 +OMIM:603296 skos:exactMatch HGNC:15606 Unspecified LAMTOR3 +OMIM:603296 skos:exactMatch HGNC_symbol:LAMTOR3 Unspecified LAMTOR3 +OMIM:603296 skos:exactMatch UMLS:C1423612 Unspecified LAMTOR3 +OMIM:603295 skos:exactMatch HGNC_symbol:SMAD9 Unspecified SMAD9 +OMIM:603295 skos:exactMatch UMLS:C2986382 Unspecified SMAD9 +OMIM:603295 skos:exactMatch UMLS:C1416964 Unspecified SMAD9 +OMIM:603295 skos:exactMatch UMLS:C3888002 Unspecified SMAD9 +OMIM:603295 skos:exactMatch HGNC:6774 Unspecified SMAD9 +OMIM:603298 skos:exactMatch UMLS:C1418855 Unspecified PPT2 +OMIM:603298 skos:exactMatch HGNC_symbol:PPT2 Unspecified PPT2 +OMIM:603298 skos:exactMatch HGNC:9326 Unspecified PPT2 +OMIM:603297 skos:exactMatch UMLS:C1825010 Unspecified DYNC2H1 +OMIM:603297 skos:exactMatch HGNC_symbol:DYNC2H1 Unspecified DYNC2H1 +OMIM:603297 skos:exactMatch HGNC:2962 Unspecified DYNC2H1 +OMIM:603279 skos:exactMatch HGNC:3442 Unspecified ERDA1 +OMIM:603279 skos:exactMatch UMLS:C1414442 Unspecified ERDA1 +OMIM:603279 skos:exactMatch HGNC_symbol:ERDA1 Unspecified ERDA1 +OMIM:615260 skos:exactMatch UMLS:C3147805 Unspecified VCPKMT +OMIM:615260 skos:exactMatch HGNC:20352 Unspecified VCPKMT +OMIM:615260 skos:exactMatch HGNC_symbol:VCPKMT Unspecified VCPKMT +OMIM:615261 skos:exactMatch UMLS:C1824421 Unspecified METTL22 +OMIM:615261 skos:exactMatch HGNC:28368 Unspecified METTL22 +OMIM:615261 skos:exactMatch HGNC_symbol:METTL22 Unspecified METTL22 +OMIM:615262 skos:exactMatch HGNC:26988 Unspecified METTL23 +OMIM:615262 skos:exactMatch HGNC_symbol:METTL23 Unspecified METTL23 +OMIM:615262 skos:exactMatch UMLS:C2681299 Unspecified METTL23 +OMIM:615263 skos:exactMatch UMLS:C1825173 Unspecified EEF2KMT +OMIM:615263 skos:exactMatch HGNC:32221 Unspecified EEF2KMT +OMIM:615263 skos:exactMatch HGNC_symbol:EEF2KMT Unspecified EEF2KMT +OMIM:615264 skos:exactMatch UMLS:C3808966 Unspecified blood group, vel system +OMIM:615264 skos:exactMatch UMLS:C2745907 Unspecified blood group, vel system +OMIM:301815 skos:exactMatch UMLS:C1844935 Unspecified arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay +OMIM:615265 skos:exactMatch HGNC:19752 Unspecified FNBP4 +OMIM:615265 skos:exactMatch HGNC_symbol:FNBP4 Unspecified FNBP4 +OMIM:615265 skos:exactMatch UMLS:C1426386 Unspecified FNBP4 +OMIM:615266 skos:exactMatch UMLS:C3808971 Unspecified hypogonadotropic hypogonadism 17 with or without anosmia +OMIM:615267 skos:exactMatch UMLS:C3808975 Unspecified hypogonadotropic hypogonadism 18 with or without anosmia +OMIM:615268 skos:exactMatch UMLS:C3808977 Unspecified cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 +OMIM:615258 skos:exactMatch HGNC:24936 Unspecified EEF1AKMT3 +OMIM:615258 skos:exactMatch UMLS:C1825254 Unspecified EEF1AKMT3 +OMIM:615258 skos:exactMatch HGNC_symbol:EEF1AKMT3 Unspecified EEF1AKMT3 +OMIM:615259 skos:exactMatch UMLS:C2681286 Unspecified METTL21C +OMIM:615259 skos:exactMatch HGNC_symbol:METTL21C Unspecified METTL21C +OMIM:615259 skos:exactMatch HGNC:33717 Unspecified METTL21C +OMIM:191070 skos:exactMatch HGNC:11708 Unspecified TDO2 +OMIM:191070 skos:exactMatch UMLS:C1420674 Unspecified TDO2 +OMIM:191070 skos:exactMatch HGNC_symbol:TDO2 Unspecified TDO2 +OMIM:603281 skos:exactMatch UMLS:C1417916 Unspecified OASL +OMIM:603281 skos:exactMatch HGNC:8090 Unspecified OASL +OMIM:603281 skos:exactMatch HGNC_symbol:OASL Unspecified OASL +OMIM:603283 skos:exactMatch UMLS:C1421109 Unspecified TRDN +OMIM:603283 skos:exactMatch HGNC_symbol:TRDN Unspecified TRDN +OMIM:603283 skos:exactMatch HGNC:12261 Unspecified TRDN +OMIM:603282 skos:exactMatch HGNC:12995 Unspecified zinc finger protein 204 +OMIM:603282 skos:exactMatch HGNC_symbol:ZNF204P Unspecified zinc finger protein 204 +OMIM:603282 skos:exactMatch UMLS:C1421692 Unspecified zinc finger protein 204 +OMIM:603285 skos:exactMatch ORPHA:221061 Unspecified cerebral cavernous malformations 3 +OMIM:603285 skos:exactMatch UMLS:C1864040 Unspecified cerebral cavernous malformations 3 +OMIM:603284 skos:exactMatch UMLS:C1864041 Unspecified cerebral cavernous malformations 2 +OMIM:603287 skos:exactMatch UMLS:C1538689 Unspecified PNPO +OMIM:603287 skos:exactMatch HGNC_symbol:PNPO Unspecified PNPO +OMIM:603287 skos:exactMatch HGNC:30260 Unspecified PNPO +OMIM:603286 skos:exactMatch HGNC_symbol:KISS1 Unspecified KISS1 +OMIM:603286 skos:exactMatch UMLS:C1334307 Unspecified KISS1 +OMIM:603286 skos:exactMatch HGNC:6341 Unspecified KISS1 +OMIM:603289 skos:exactMatch HGNC:2676 Unspecified DAPK3 +OMIM:603289 skos:exactMatch HGNC_symbol:DAPK3 Unspecified DAPK3 +OMIM:603289 skos:exactMatch UMLS:C1413908 Unspecified DAPK3 +OMIM:603288 skos:exactMatch HGNC:6309 Unspecified KERA +OMIM:603288 skos:exactMatch UMLS:C1416626 Unspecified KERA +OMIM:603288 skos:exactMatch HGNC_symbol:KERA Unspecified KERA +OMIM:603269 skos:exactMatch HGNC:16988 Unspecified SRSF8 +OMIM:603269 skos:exactMatch UMLS:C1822698 Unspecified SRSF8 +OMIM:603269 skos:exactMatch HGNC_symbol:SRSF8 Unspecified SRSF8 +OMIM:603268 skos:exactMatch HGNC:7681 Unspecified NDST2 +OMIM:603268 skos:exactMatch UMLS:C1417618 Unspecified NDST2 +OMIM:603268 skos:exactMatch HGNC_symbol:NDST2 Unspecified NDST2 +OMIM:615250 skos:exactMatch HGNC_symbol:ZBED3 Unspecified ZBED3 +OMIM:615250 skos:exactMatch UMLS:C1427088 Unspecified ZBED3 +OMIM:615250 skos:exactMatch HGNC:20711 Unspecified ZBED3 +OMIM:615251 skos:exactMatch HGNC_symbol:ZBED5 Unspecified ZBED5 +OMIM:615251 skos:exactMatch HGNC:30803 Unspecified ZBED5 +OMIM:615251 skos:exactMatch UMLS:C1823900 Unspecified ZBED5 +OMIM:615252 skos:exactMatch HGNC_symbol:ZBED10P Unspecified ZBED6CL +OMIM:615252 skos:exactMatch HGNC:21720 Unspecified ZBED6CL +OMIM:615252 skos:exactMatch UMLS:C3808965 Unspecified ZBED6CL +OMIM:615253 skos:exactMatch UMLS:C2681239 Unspecified ZBED8 +OMIM:615253 skos:exactMatch HGNC_symbol:ZBED8 Unspecified ZBED8 +OMIM:615253 skos:exactMatch HGNC:30804 Unspecified ZBED8 +OMIM:615254 skos:exactMatch HGNC_symbol:ZBED9 Unspecified SCAND3 +OMIM:615254 skos:exactMatch HGNC:13851 Unspecified SCAND3 +OMIM:615254 skos:exactMatch UMLS:C1422235 Unspecified SCAND3 +OMIM:615255 skos:exactMatch HGNC_symbol:METTL18 Unspecified METTL18 +OMIM:615255 skos:exactMatch UMLS:C1823772 Unspecified METTL18 +OMIM:615255 skos:exactMatch HGNC:28793 Unspecified METTL18 +OMIM:615256 skos:exactMatch HGNC_symbol:ETFBKMT Unspecified ETFBKMT +OMIM:615256 skos:exactMatch UMLS:C2681279 Unspecified ETFBKMT +OMIM:615256 skos:exactMatch HGNC:28739 Unspecified ETFBKMT +OMIM:615257 skos:exactMatch HGNC:30476 Unspecified METTL21A +OMIM:615257 skos:exactMatch UMLS:C1825253 Unspecified METTL21A +OMIM:615257 skos:exactMatch HGNC_symbol:METTL21A Unspecified METTL21A +OMIM:615247 skos:exactMatch UMLS:C3808960 Unspecified POMK +OMIM:615247 skos:exactMatch HGNC:26267 Unspecified POMK +OMIM:615247 skos:exactMatch HGNC_symbol:POMK Unspecified POMK +OMIM:615248 skos:exactMatch UMLS:C3808963 Unspecified cardiomyopathy, dilated, 1kk +OMIM:615248 skos:exactMatch UMLS:C3714998 Unspecified cardiomyopathy, dilated, 1kk +OMIM:615248 skos:exactMatch UMLS:C3714995 Unspecified cardiomyopathy, dilated, 1kk +OMIM:615249 skos:exactMatch UMLS:C3808964 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 12 +OMIM:603270 skos:exactMatch HGNC_symbol:ATP5PB Unspecified ATP5PB +OMIM:603270 skos:exactMatch HGNC:840 Unspecified ATP5PB +OMIM:603270 skos:exactMatch UMLS:C1412661 Unspecified ATP5PB +OMIM:603272 skos:exactMatch UMLS:C1332768 Unspecified CNKSR1 +OMIM:603272 skos:exactMatch HGNC:19700 Unspecified CNKSR1 +OMIM:603272 skos:exactMatch HGNC_symbol:CNKSR1 Unspecified CNKSR1 +OMIM:603271 skos:exactMatch HGNC:9651 Unspecified PTPN21 +OMIM:603271 skos:exactMatch HGNC_symbol:PTPN21 Unspecified PTPN21 +OMIM:603271 skos:exactMatch UMLS:C1419101 Unspecified PTPN21 +OMIM:191044 skos:exactMatch HGNC_symbol:TNNI3 Unspecified TNNI3 +OMIM:191044 skos:exactMatch HGNC:11947 Unspecified TNNI3 +OMIM:191044 skos:exactMatch UMLS:C1420826 Unspecified TNNI3 +OMIM:603273 skos:exactMatch UMLS:C1422009 Unspecified TP63 +OMIM:603273 skos:exactMatch UMLS:C0406709 Unspecified TP63 +OMIM:603273 skos:exactMatch UMLS:C1854442 Unspecified TP63 +OMIM:603273 skos:exactMatch UMLS:C1785148 Unspecified TP63 +OMIM:603273 skos:exactMatch UMLS:C1863204 Unspecified TP63 +OMIM:603273 skos:exactMatch HGNC:15979 Unspecified TP63 +OMIM:603273 skos:exactMatch UMLS:C1851878 Unspecified TP63 +OMIM:603273 skos:exactMatch HGNC_symbol:TP63 Unspecified TP63 +OMIM:603273 skos:exactMatch UMLS:C1863753 Unspecified TP63 +OMIM:603273 skos:exactMatch UMLS:C1858562 Unspecified TP63 +OMIM:191045 skos:exactMatch HGNC_symbol:TNNT2 Unspecified TNNT2 +OMIM:191045 skos:exactMatch HGNC:11949 Unspecified TNNT2 +OMIM:191045 skos:exactMatch UMLS:C1420828 Unspecified TNNT2 +OMIM:603276 skos:exactMatch UMLS:C1419375 Unspecified RGS5 +OMIM:603276 skos:exactMatch HGNC:10001 Unspecified RGS5 +OMIM:603276 skos:exactMatch HGNC_symbol:RGS5 Unspecified RGS5 +OMIM:191042 skos:exactMatch HGNC_symbol:TNNI1 Unspecified TNNI1 +OMIM:191042 skos:exactMatch HGNC:11945 Unspecified TNNI1 +OMIM:191042 skos:exactMatch UMLS:C1420824 Unspecified TNNI1 +OMIM:191043 skos:exactMatch HGNC_symbol:TNNI2 Unspecified TNNI2 +OMIM:191043 skos:exactMatch HGNC:11946 Unspecified TNNI2 +OMIM:191043 skos:exactMatch UMLS:C1420825 Unspecified TNNI2 +OMIM:603275 skos:exactMatch HGNC_symbol:PIP5K1A Unspecified PIP5K1A +OMIM:603275 skos:exactMatch UMLS:C1418588 Unspecified PIP5K1A +OMIM:603275 skos:exactMatch HGNC:8994 Unspecified PIP5K1A +OMIM:603278 skos:exactMatch UMLS:C4551527 Unspecified focal segmental glomerulosclerosis 1 +OMIM:603278 skos:exactMatch ORPHA:656 Unspecified focal segmental glomerulosclerosis 1 +OMIM:191040 skos:exactMatch HGNC_symbol:TNNC1 Unspecified TNNC1 +OMIM:191040 skos:exactMatch HGNC:11943 Unspecified TNNC1 +OMIM:191040 skos:exactMatch UMLS:C1420822 Unspecified TNNC1 +OMIM:603277 skos:exactMatch HGNC:1919 Unspecified CHD4 +OMIM:603277 skos:exactMatch HGNC_symbol:CHD4 Unspecified CHD4 +OMIM:603277 skos:exactMatch UMLS:C1413383 Unspecified CHD4 +OMIM:191041 skos:exactMatch HGNC_symbol:TNNT1 Unspecified TNNT1 +OMIM:191041 skos:exactMatch HGNC:11948 Unspecified TNNT1 +OMIM:191041 skos:exactMatch UMLS:C1854380 Unspecified TNNT1 +OMIM:191041 skos:exactMatch UMLS:C1420827 Unspecified TNNT1 +OMIM:603258 skos:exactMatch UMLS:C4747743 Unspecified IKBKB +OMIM:603258 skos:exactMatch HGNC_symbol:IKBKB Unspecified IKBKB +OMIM:603258 skos:exactMatch UMLS:C1442489 Unspecified IKBKB +OMIM:603258 skos:exactMatch HGNC:5960 Unspecified IKBKB +OMIM:603258 skos:exactMatch UMLS:C4748694 Unspecified IKBKB +OMIM:603257 skos:exactMatch UMLS:C1335842 Unspecified SMARCA3 +OMIM:603257 skos:exactMatch HGNC:11099 Unspecified SMARCA3 +OMIM:603257 skos:exactMatch HGNC_symbol:HLTF Unspecified SMARCA3 +OMIM:264500 skos:exactMatch UMLS:C1849648 Unspecified pseudouridinuria and mental defect +OMIM:615240 skos:exactMatch HGNC_symbol:KCTD15 Unspecified KCTD15 +OMIM:615240 skos:exactMatch HGNC:23297 Unspecified KCTD15 +OMIM:615240 skos:exactMatch UMLS:C1428029 Unspecified KCTD15 +OMIM:615241 skos:exactMatch HGNC:14607 Unspecified TINCR +OMIM:615241 skos:exactMatch UMLS:C1422787 Unspecified TINCR +OMIM:615241 skos:exactMatch HGNC_symbol:TINCR Unspecified TINCR +OMIM:615242 skos:exactMatch UMLS:C3543515 Unspecified SMIM1 +OMIM:615242 skos:exactMatch HGNC_symbol:SMIM1 Unspecified SMIM1 +OMIM:615242 skos:exactMatch HGNC:44204 Unspecified SMIM1 +OMIM:615243 skos:exactMatch UMLS:C1425303 Unspecified DEFB114 +OMIM:615243 skos:exactMatch HGNC:18095 Unspecified DEFB114 +OMIM:615243 skos:exactMatch HGNC_symbol:DEFB114 Unspecified DEFB114 +OMIM:615244 skos:exactMatch UMLS:C3808953 Unspecified nephrotic syndrome, iia 8 +OMIM:615245 skos:exactMatch UMLS:C1826244 Unspecified MIR671 +OMIM:615245 skos:exactMatch HGNC_symbol:MIR671 Unspecified MIR671 +OMIM:615245 skos:exactMatch HGNC:33134 Unspecified MIR671 +OMIM:615246 skos:exactMatch HGNC:20710 Unspecified ZBED2 +OMIM:615246 skos:exactMatch HGNC_symbol:ZBED2 Unspecified ZBED2 +OMIM:615246 skos:exactMatch UMLS:C1427087 Unspecified ZBED2 +OMIM:617899 skos:exactMatch UMLS:C4693535 Unspecified leukodystrophy, hypomyelinating, 14 +OMIM:615236 skos:exactMatch UMLS:C0796203 Unspecified woods syndrome +OMIM:191050 skos:exactMatch HGNC:12729 Unspecified WARS1 +OMIM:191050 skos:exactMatch UMLS:C1421476 Unspecified WARS1 +OMIM:191050 skos:exactMatch UMLS:C4540265 Unspecified WARS1 +OMIM:191050 skos:exactMatch HGNC_symbol:WARS1 Unspecified WARS1 +OMIM:617898 skos:exactMatch UMLS:C4693531 Unspecified multiple synostoses syndrome 4 +OMIM:615237 skos:exactMatch UMLS:C0021847 Unspecified congenital short bowel syndrome +OMIM:615238 skos:exactMatch UMLS:C3808940 Unspecified lipodystrophy, familial partial, iia 5 +OMIM:615239 skos:exactMatch HGNC_symbol:MIR7-1 Unspecified MIR7-1 +OMIM:615239 skos:exactMatch HGNC:31638 Unspecified MIR7-1 +OMIM:615239 skos:exactMatch UMLS:C1537701 Unspecified MIR7-1 +OMIM:603261 skos:exactMatch HGNC_symbol:PIP4K2B Unspecified PIP4K2B +OMIM:603261 skos:exactMatch UMLS:C1335220 Unspecified PIP4K2B +OMIM:603261 skos:exactMatch HGNC:8998 Unspecified PIP4K2B +OMIM:603260 skos:exactMatch UMLS:C1412737 Unspecified BARX1 +OMIM:603260 skos:exactMatch HGNC_symbol:BARX1 Unspecified BARX1 +OMIM:603260 skos:exactMatch HGNC:955 Unspecified BARX1 +OMIM:603263 skos:exactMatch HGNC_symbol:CA12 Unspecified CA12 +OMIM:603263 skos:exactMatch HGNC:1371 Unspecified CA12 +OMIM:603263 skos:exactMatch UMLS:C1413041 Unspecified CA12 +OMIM:603262 skos:exactMatch UMLS:C1418267 Unspecified PAPSS1 +OMIM:603262 skos:exactMatch HGNC_symbol:PAPSS1 Unspecified PAPSS1 +OMIM:603262 skos:exactMatch HGNC:8603 Unspecified PAPSS1 +OMIM:603265 skos:exactMatch HGNC_symbol:ARID3A Unspecified ARID3A +OMIM:603265 skos:exactMatch HGNC:3031 Unspecified ARID3A +OMIM:603265 skos:exactMatch UMLS:C1414153 Unspecified ARID3A +OMIM:603264 skos:exactMatch UMLS:C1419380 Unspecified RHBDL1 +OMIM:603264 skos:exactMatch HGNC:10007 Unspecified RHBDL1 +OMIM:603264 skos:exactMatch HGNC_symbol:RHBDL1 Unspecified RHBDL1 +OMIM:603267 skos:exactMatch HGNC:11182 Unspecified CAPN15 +OMIM:603267 skos:exactMatch HGNC_symbol:CAPN15 Unspecified CAPN15 +OMIM:603267 skos:exactMatch UMLS:C1420309 Unspecified CAPN15 +OMIM:603266 skos:exactMatch UMLS:C1864068 Unspecified iia 1 diabetes mellitus 17 +OMIM:301840 skos:exactMatch UMLS:C1844933 Unspecified spinocerebellar ataxia, X-linked 4 +OMIM:301845 skos:exactMatch UMLS:C0346104 Unspecified bazex syndrome +OMIM:252500 skos:exactMatch UMLS:C0020725 Unspecified mucolipidosis 2 alpha/beta +OMIM:252500 skos:exactMatch UMLS:C2673377 Unspecified mucolipidosis 2 alpha/beta +OMIM:301850 skos:exactMatch UMLS:C3887557 Unspecified tubulin, beta +OMIM:239510 skos:exactMatch UMLS:C2931835 Unspecified hyperprolinemia, iia 2 +OMIM:615290 skos:exactMatch UMLS:C4747715 Unspecified spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant +OMIM:615290 skos:exactMatch ORPHA:363447 Unspecified spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant +OMIM:615290 skos:exactMatch ORPHA:363454 Unspecified spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant +OMIM:615291 skos:exactMatch UMLS:C1836121 Unspecified B3GALT6 +OMIM:615291 skos:exactMatch HGNC:17978 Unspecified B3GALT6 +OMIM:615291 skos:exactMatch UMLS:C1425214 Unspecified B3GALT6 +OMIM:615291 skos:exactMatch UMLS:C4017377 Unspecified B3GALT6 +OMIM:615291 skos:exactMatch UMLS:C4017378 Unspecified B3GALT6 +OMIM:615291 skos:exactMatch HGNC_symbol:B3GALT6 Unspecified B3GALT6 +OMIM:615291 skos:exactMatch UMLS:C3809210 Unspecified B3GALT6 +OMIM:615292 skos:exactMatch HGNC_symbol:FAM111A Unspecified FAM111A +OMIM:615292 skos:exactMatch HGNC:24725 Unspecified FAM111A +OMIM:615292 skos:exactMatch UMLS:C1825241 Unspecified FAM111A +OMIM:615293 skos:exactMatch UMLS:C3809084 Unspecified myofibromatosis, infantile, 2 +OMIM:240500 skos:exactMatch UMLS:C3150354 Unspecified immunodeficiency, common variable, 2 +OMIM:615294 skos:exactMatch UMLS:C3809087 Unspecified ciliary dyskinesia, primary, 21 +OMIM:615294 skos:exactMatch ORPHA:244 Unspecified ciliary dyskinesia, primary, 21 +OMIM:615295 skos:exactMatch HGNC:20066 Unspecified USP34 +OMIM:615295 skos:exactMatch HGNC_symbol:USP34 Unspecified USP34 +OMIM:615295 skos:exactMatch UMLS:C1426654 Unspecified USP34 +OMIM:615296 skos:exactMatch HGNC:15552 Unspecified IL1F10 +OMIM:615296 skos:exactMatch UMLS:C1423572 Unspecified IL1F10 +OMIM:615296 skos:exactMatch HGNC_symbol:IL1F10 Unspecified IL1F10 +OMIM:615297 skos:exactMatch ORPHA:974 Unspecified adams-oliver syndrome 4 +OMIM:615297 skos:exactMatch UMLS:C3809092 Unspecified adams-oliver syndrome 4 +OMIM:615298 skos:exactMatch UMLS:C3809104 Unspecified symphalangism, proximal, 1b +OMIM:615298 skos:exactMatch ORPHA:3250 Unspecified symphalangism, proximal, 1b +OMIM:615299 skos:exactMatch HGNC:30482 Unspecified NXNL2 +OMIM:615299 skos:exactMatch HGNC_symbol:NXNL2 Unspecified NXNL2 +OMIM:615299 skos:exactMatch UMLS:C2239791 Unspecified NXNL2 +OMIM:191080 skos:exactMatch UMLS:C1540043 Unspecified TPSAB1 +OMIM:191080 skos:exactMatch HGNC_symbol:TPSAB1 Unspecified TPSAB1 +OMIM:191080 skos:exactMatch HGNC:12019 Unspecified TPSAB1 +OMIM:191081 skos:exactMatch HGNC:14120 Unspecified TPSB2 +OMIM:191081 skos:exactMatch HGNC_symbol:TPSB2 Unspecified TPSB2 +OMIM:191081 skos:exactMatch UMLS:C1422417 Unspecified TPSB2 +OMIM:615280 skos:exactMatch UMLS:C3809007 Unspecified cardiofaciocutaneous syndrome 4 +OMIM:615280 skos:exactMatch ORPHA:1340 Unspecified cardiofaciocutaneous syndrome 4 +OMIM:615281 skos:exactMatch UMLS:C3809008 Unspecified hypomyelination with brainstem and spinal cord involvement and leg spasticity +OMIM:615282 skos:exactMatch UMLS:C3809013 Unspecified cortical dysplasia, complex, with other brain malformations 2 +OMIM:301830 skos:exactMatch ORPHA:1145 Unspecified spinal muscular atrophy, X-linked 2 +OMIM:301830 skos:exactMatch UMLS:C1844934 Unspecified spinal muscular atrophy, X-linked 2 +OMIM:615283 skos:exactMatch HGNC_symbol:EXOC8 Unspecified EXOC8 +OMIM:615283 skos:exactMatch UMLS:C5436747 Unspecified EXOC8 +OMIM:615283 skos:exactMatch UMLS:C1428397 Unspecified EXOC8 +OMIM:615283 skos:exactMatch UMLS:C2986382 Unspecified EXOC8 +OMIM:615283 skos:exactMatch HGNC:24659 Unspecified EXOC8 +OMIM:615284 skos:exactMatch UMLS:C3695063 Unspecified charcot-marie-tooth disease, iia 4b3 +OMIM:301835 skos:exactMatch UMLS:C0796028 Unspecified arts syndrome +OMIM:615285 skos:exactMatch UMLS:C3809031 Unspecified neutropenia, severe congenital, 5, autosomal recessive +OMIM:615286 skos:exactMatch UMLS:C3809039 Unspecified neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies +OMIM:615286 skos:exactMatch ORPHA:363528 Unspecified neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies +OMIM:615287 skos:exactMatch UMLS:C3809042 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 13 +OMIM:615288 skos:exactMatch UMLS:C3809087 Unspecified DRC1 +OMIM:615288 skos:exactMatch UMLS:C1824106 Unspecified DRC1 +OMIM:615288 skos:exactMatch HGNC_symbol:DRC1 Unspecified DRC1 +OMIM:615288 skos:exactMatch HGNC:24245 Unspecified DRC1 +OMIM:615289 skos:exactMatch UMLS:C1428639 Unspecified MISP +OMIM:615289 skos:exactMatch HGNC_symbol:MISP Unspecified MISP +OMIM:615289 skos:exactMatch HGNC:27000 Unspecified MISP +OMIM:480000 skos:exactMatch HGNC_symbol:SRY Unspecified SRY +OMIM:480000 skos:exactMatch HGNC:11311 Unspecified SRY +OMIM:480000 skos:exactMatch UMLS:C1420418 Unspecified SRY +OMIM:480000 skos:exactMatch UMLS:C2748896 Unspecified SRY +OMIM:480000 skos:exactMatch UMLS:C2697358 Unspecified SRY +OMIM:191092 skos:exactMatch UMLS:C1847648 Unspecified TSC2 +OMIM:191092 skos:exactMatch UMLS:C0694895 Unspecified TSC2 +OMIM:191092 skos:exactMatch HGNC:12363 Unspecified TSC2 +OMIM:191092 skos:exactMatch HGNC_symbol:TSC2 Unspecified TSC2 +OMIM:191092 skos:exactMatch UMLS:C4479673 Unspecified TSC2 +OMIM:191092 skos:exactMatch UMLS:C1860707 Unspecified TSC2 +OMIM:227500 skos:exactMatch UMLS:C0015503 Unspecified factor 7 deficiency +OMIM:215518 skos:exactMatch UMLS:C0340038 Unspecified ciliary discoordination due to random ciliary orientation +OMIM:215510 skos:exactMatch UMLS:C1859091 Unspecified chromosomal instability with tissue-specific radiosensitivity +OMIM:132700 skos:exactMatch UMLS:C1305968 Unspecified cylindromatosis, familial +OMIM:215520 skos:exactMatch UMLS:C2673817 Unspecified ciliary dyskinesia with transposition of ciliary microtubules +OMIM:203550 skos:exactMatch UMLS:C0795895 Unspecified alopecia-contractures-dwarfism mental retardation syndrome +OMIM:239500 skos:exactMatch UMLS:C0268529 Unspecified hyperprolinemia, iia 1 +OMIM:215550 skos:exactMatch UMLS:C1859089 Unspecified circumvallate placenta syndrome +OMIM:144700 skos:exactMatch UMLS:C2750825 Unspecified renal cell carcinoma, nonpapillary +OMIM:144700 skos:exactMatch UMLS:C0279702 Unspecified renal cell carcinoma, nonpapillary +OMIM:144700 skos:exactMatch UMLS:C0007134 Unspecified renal cell carcinoma, nonpapillary +OMIM:144700 skos:exactMatch ORPHA:422526 Unspecified renal cell carcinoma, nonpapillary +OMIM:156700 skos:exactMatch UMLS:C1834935 Unspecified microcornea, glaucoma, and absent frontal sinuses +OMIM:203500 skos:exactMatch UMLS:C0002066 Unspecified alkaptonuria +OMIM:130100 skos:exactMatch UMLS:C0221271 Unspecified elastosis perforans serpiginosa +OMIM:129010 skos:exactMatch HGNC:3239 Unspecified EGR2 +OMIM:129010 skos:exactMatch HGNC_symbol:EGR2 Unspecified EGR2 +OMIM:129010 skos:exactMatch UMLS:C1414315 Unspecified EGR2 +OMIM:215500 skos:exactMatch UMLS:C4551884 Unspecified choroidal dystrophy, central areolar, 1 +OMIM:215500 skos:exactMatch UMLS:C1536451 Unspecified choroidal dystrophy, central areolar, 1 +OMIM:105150 skos:exactMatch UMLS:C1527338 Unspecified cerebral amyloid angiopathy, cst3-related +OMIM:105150 skos:exactMatch UMLS:C1510489 Unspecified cerebral amyloid angiopathy, cst3-related +OMIM:168605 skos:exactMatch ORPHA:178509 Unspecified perry syndrome +OMIM:168605 skos:exactMatch UMLS:C1868594 Unspecified perry syndrome +OMIM:168601 skos:exactMatch UMLS:C1868595 Unspecified parkinson disease 1, autosomal dominant +OMIM:168601 skos:exactMatch UMLS:C1868596 Unspecified parkinson disease 1, autosomal dominant +OMIM:168600 skos:exactMatch UMLS:C3160718 Unspecified parkinson disease, late-onset +OMIM:156620 skos:exactMatch UMLS:C0796062 Unspecified microcephaly-deafness syndrome +OMIM:117139 skos:exactMatch UMLS:C1413338 Unspecified CENPA +OMIM:117139 skos:exactMatch HGNC:1851 Unspecified CENPA +OMIM:117139 skos:exactMatch HGNC_symbol:CENPA Unspecified CENPA +OMIM:117140 skos:exactMatch HGNC_symbol:CENPB Unspecified CENPB +OMIM:117140 skos:exactMatch UMLS:C1413339 Unspecified CENPB +OMIM:117140 skos:exactMatch HGNC:1852 Unspecified CENPB +OMIM:117141 skos:exactMatch UMLS:C1413340 Unspecified CENPC1 +OMIM:117141 skos:exactMatch HGNC_symbol:CENPC Unspecified CENPC1 +OMIM:117141 skos:exactMatch HGNC:1854 Unspecified CENPC1 +OMIM:117143 skos:exactMatch HGNC:1856 Unspecified CENPE +OMIM:117143 skos:exactMatch UMLS:C1413342 Unspecified CENPE +OMIM:117143 skos:exactMatch HGNC_symbol:CENPE Unspecified CENPE +OMIM:117143 skos:exactMatch UMLS:C4015080 Unspecified CENPE +OMIM:130000 skos:exactMatch UMLS:C4552122 Unspecified ehlers-danlos syndrome, classic type, 1 +OMIM:156610 skos:exactMatch UMLS:C4551592 Unspecified skin creases, congenital symmetric circumferential, 1 +OMIM:130010 skos:exactMatch UMLS:C4538407 Unspecified ehlers-danlos syndrome, classic type, 2 +OMIM:129100 skos:exactMatch UMLS:C1851889 Unspecified ears, ability to move +OMIM:144650 skos:exactMatch UMLS:C0020481 Unspecified hyperlipoproteinemia, iia 5 +OMIM:130020 skos:exactMatch UMLS:C0268337 Unspecified ehlers-danlos syndrome, hypermobility iia +OMIM:142000 skos:exactMatch HGNC:4829 Unspecified HBD +OMIM:142000 skos:exactMatch UMLS:C1415483 Unspecified HBD +OMIM:142000 skos:exactMatch HGNC_symbol:HBD Unspecified HBD +OMIM:605822 skos:exactMatch UMLS:C4225412 Unspecified spondyloocular syndrome +OMIM:605823 skos:exactMatch HGNC_symbol:POPDC2 Unspecified POPDC2 +OMIM:605823 skos:exactMatch HGNC:17648 Unspecified POPDC2 +OMIM:605823 skos:exactMatch UMLS:C1425024 Unspecified POPDC2 +OMIM:605820 skos:exactMatch UMLS:C1853926 Unspecified nonaka myopathy +OMIM:605821 skos:exactMatch HGNC_symbol:AHSP Unspecified ERAF +OMIM:605821 skos:exactMatch HGNC:18075 Unspecified ERAF +OMIM:605821 skos:exactMatch UMLS:C1425284 Unspecified ERAF +OMIM:605826 skos:exactMatch UMLS:C1424798 Unspecified HEBP1 +OMIM:605826 skos:exactMatch HGNC_symbol:HEBP1 Unspecified HEBP1 +OMIM:605826 skos:exactMatch HGNC:17176 Unspecified HEBP1 +OMIM:605827 skos:exactMatch UMLS:C1853919 Unspecified basaloid follicular hamartoma syndrome, generalized, autosomal dominant +OMIM:605824 skos:exactMatch UMLS:C5394268 Unspecified POPDC3 +OMIM:605824 skos:exactMatch HGNC_symbol:POPDC3 Unspecified POPDC3 +OMIM:605824 skos:exactMatch HGNC:17649 Unspecified POPDC3 +OMIM:605824 skos:exactMatch UMLS:C1425025 Unspecified POPDC3 +OMIM:107770 skos:exactMatch UMLS:C0263428 Unspecified LRP1 +OMIM:107770 skos:exactMatch UMLS:C1416912 Unspecified LRP1 +OMIM:107770 skos:exactMatch UMLS:C2986382 Unspecified LRP1 +OMIM:107770 skos:exactMatch HGNC_symbol:LRP1 Unspecified LRP1 +OMIM:107770 skos:exactMatch HGNC:6692 Unspecified LRP1 +OMIM:605825 skos:exactMatch HGNC:15716 Unspecified HEBP2 +OMIM:605825 skos:exactMatch UMLS:C1423679 Unspecified HEBP2 +OMIM:605825 skos:exactMatch HGNC_symbol:HEBP2 Unspecified HEBP2 +OMIM:605828 skos:exactMatch HGNC_symbol:TMC6 Unspecified TMC6 +OMIM:605828 skos:exactMatch HGNC:18021 Unspecified TMC6 +OMIM:605828 skos:exactMatch UMLS:C1823291 Unspecified TMC6 +OMIM:605829 skos:exactMatch HGNC_symbol:TMC8 Unspecified TMC8 +OMIM:605829 skos:exactMatch HGNC:20474 Unspecified TMC8 +OMIM:605829 skos:exactMatch UMLS:C1823292 Unspecified TMC8 +OMIM:617800 skos:exactMatch UMLS:C4540488 Unspecified microcephaly 19, primary, autosomal recessive +OMIM:617802 skos:exactMatch UMLS:C4540493 Unspecified neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +OMIM:617801 skos:exactMatch UMLS:C4522312 Unspecified CAP1 +OMIM:617801 skos:exactMatch HGNC:20040 Unspecified CAP1 +OMIM:617801 skos:exactMatch HGNC_symbol:CAP1 Unspecified CAP1 +OMIM:617804 skos:exactMatch UMLS:C4540496 Unspecified neurodevelopmental disorder with severe motor impairment and absent language +OMIM:617803 skos:exactMatch UMLS:C1539995 Unspecified TMEM26 +OMIM:617803 skos:exactMatch HGNC_symbol:TMEM26 Unspecified TMEM26 +OMIM:617803 skos:exactMatch HGNC:28550 Unspecified TMEM26 +OMIM:617806 skos:exactMatch HGNC:28448 Unspecified TMEM86B +OMIM:617806 skos:exactMatch HGNC_symbol:TMEM86B Unspecified TMEM86B +OMIM:617806 skos:exactMatch UMLS:C1823347 Unspecified TMEM86B +OMIM:617805 skos:exactMatch UMLS:C4540497 Unspecified renal hypodysplasia/aplasia 3 +OMIM:117100 skos:exactMatch UMLS:C2363129 Unspecified centralopathic epilepsy +OMIM:617808 skos:exactMatch UMLS:C4540499 Unspecified coffin-siris syndrome 6 +OMIM:617807 skos:exactMatch UMLS:C4540498 Unspecified neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter +OMIM:617809 skos:exactMatch UMLS:C4540511 Unspecified geleophysic dysplasia 3 +OMIM:605830 skos:exactMatch HGNC:3693 Unspecified FGFRL1 +OMIM:605830 skos:exactMatch HGNC_symbol:FGFRL1 Unspecified FGFRL1 +OMIM:605830 skos:exactMatch UMLS:C1364012 Unspecified FGFRL1 +OMIM:605811 skos:exactMatch HGNC:15913 Unspecified NXT1 +OMIM:605811 skos:exactMatch HGNC_symbol:NXT1 Unspecified NXT1 +OMIM:605811 skos:exactMatch UMLS:C1423828 Unspecified NXT1 +OMIM:605812 skos:exactMatch HGNC:2742 Unspecified DDX19B +OMIM:605812 skos:exactMatch HGNC_symbol:DDX19B Unspecified DDX19B +OMIM:605812 skos:exactMatch UMLS:C1824903 Unspecified DDX19B +OMIM:605810 skos:exactMatch HGNC:14508 Unspecified MRPS22 +OMIM:605810 skos:exactMatch UMLS:C1422713 Unspecified MRPS22 +OMIM:605810 skos:exactMatch HGNC_symbol:MRPS22 Unspecified MRPS22 +OMIM:605815 skos:exactMatch HGNC:8066 Unspecified NUP62 +OMIM:605815 skos:exactMatch UMLS:C1417895 Unspecified NUP62 +OMIM:605815 skos:exactMatch HGNC_symbol:NUP62 Unspecified NUP62 +OMIM:605816 skos:exactMatch UMLS:C1414234 Unspecified EBI3 +OMIM:605816 skos:exactMatch HGNC_symbol:EBI3 Unspecified EBI3 +OMIM:605816 skos:exactMatch HGNC:3129 Unspecified EBI3 +OMIM:605813 skos:exactMatch HGNC:13722 Unspecified NUTF2 +OMIM:605813 skos:exactMatch UMLS:C1422162 Unspecified NUTF2 +OMIM:605813 skos:exactMatch HGNC_symbol:NUTF2 Unspecified NUTF2 +OMIM:105120 skos:exactMatch UMLS:C0936273 Unspecified amyloidosis, finnish iia +OMIM:105120 skos:exactMatch UMLS:C1622345 Unspecified amyloidosis, finnish iia +OMIM:105120 skos:exactMatch ORPHA:85448 Unspecified amyloidosis, finnish iia +OMIM:605814 skos:exactMatch UMLS:C1853942 Unspecified citrullinemia, iia ii, neonatal-onset +OMIM:605814 skos:exactMatch ORPHA:247598 Unspecified citrullinemia, iia ii, neonatal-onset +OMIM:605819 skos:exactMatch HGNC:8848 Unspecified PES1 +OMIM:605819 skos:exactMatch HGNC_symbol:PES1 Unspecified PES1 +OMIM:605819 skos:exactMatch UMLS:C1418467 Unspecified PES1 +OMIM:605817 skos:exactMatch UMLS:C1335625 Unspecified RIPK3 +OMIM:605817 skos:exactMatch HGNC_symbol:RIPK3 Unspecified RIPK3 +OMIM:605817 skos:exactMatch HGNC:10021 Unspecified RIPK3 +OMIM:605818 skos:exactMatch UMLS:C1853941 Unspecified deafness, autosomal recessive 27 +OMIM:107776 skos:exactMatch HGNC:633 Unspecified AQP1 +OMIM:107776 skos:exactMatch UMLS:C1412491 Unspecified AQP1 +OMIM:107776 skos:exactMatch HGNC_symbol:AQP1 Unspecified AQP1 +OMIM:107773 skos:exactMatch UMLS:C1417834 Unspecified NR2F2 +OMIM:107773 skos:exactMatch HGNC_symbol:NR2F2 Unspecified NR2F2 +OMIM:107773 skos:exactMatch UMLS:C5394441 Unspecified NR2F2 +OMIM:107773 skos:exactMatch HGNC:7976 Unspecified NR2F2 +OMIM:107773 skos:exactMatch UMLS:C4014310 Unspecified NR2F2 +OMIM:107777 skos:exactMatch HGNC_symbol:AQP2 Unspecified AQP2 +OMIM:107777 skos:exactMatch HGNC:634 Unspecified AQP2 +OMIM:107777 skos:exactMatch UMLS:C1412492 Unspecified AQP2 +OMIM:605800 skos:exactMatch HGNC_symbol:HNRNPUL1 Unspecified HNRNPUL1 +OMIM:605800 skos:exactMatch UMLS:C1424684 Unspecified HNRNPUL1 +OMIM:605800 skos:exactMatch HGNC:17011 Unspecified HNRNPUL1 +OMIM:605801 skos:exactMatch HGNC:9841 Unspecified RALBP1 +OMIM:605801 skos:exactMatch UMLS:C1419253 Unspecified RALBP1 +OMIM:605801 skos:exactMatch HGNC_symbol:RALBP1 Unspecified RALBP1 +OMIM:130050 skos:exactMatch UMLS:C0268338 Unspecified ehlers-danlos syndrome, vascular iia +OMIM:605804 skos:exactMatch UMLS:C1853964 Unspecified dermatitis, atopic, 3 +OMIM:107750 skos:exactMatch UMLS:C1862555 Unspecified arbitrary restriction polymorphism 1 +OMIM:605805 skos:exactMatch UMLS:C1853963 Unspecified dermatitis, atopic, 4 +OMIM:605802 skos:exactMatch HGNC_symbol:ZEB2 Unspecified ZEB2 +OMIM:605802 skos:exactMatch HGNC:14881 Unspecified ZEB2 +OMIM:605802 skos:exactMatch UMLS:C1423021 Unspecified ZEB2 +OMIM:605803 skos:exactMatch UMLS:C1853965 Unspecified dermatitis, atopic, 2 +OMIM:605808 skos:exactMatch UMLS:C1853959 Unspecified birdshot chorioretinopathy +OMIM:605809 skos:exactMatch UMLS:C4225413 Unspecified myasthenic syndrome, congenital, 4a, slow-channel +OMIM:605806 skos:exactMatch HGNC_symbol:CDH7 Unspecified CDH7 +OMIM:605806 skos:exactMatch HGNC:1766 Unspecified CDH7 +OMIM:605806 skos:exactMatch UMLS:C1413281 Unspecified CDH7 +OMIM:166000 skos:exactMatch UMLS:C0014084 Unspecified enchondromatosis, multiple, ollier iia +OMIM:605807 skos:exactMatch UMLS:C1413278 Unspecified CDH20 +OMIM:605807 skos:exactMatch HGNC:1760 Unspecified CDH20 +OMIM:605807 skos:exactMatch HGNC_symbol:CDH20 Unspecified CDH20 +OMIM:107748 skos:exactMatch UMLS:C1332102 Unspecified APEX1 +OMIM:107748 skos:exactMatch HGNC:587 Unspecified APEX1 +OMIM:107748 skos:exactMatch HGNC_symbol:APEX1 Unspecified APEX1 +OMIM:181600 skos:exactMatch UMLS:C0406767 Unspecified huriez syndrome +OMIM:107740 skos:exactMatch HGNC_symbol:APOD Unspecified APOD +OMIM:107740 skos:exactMatch HGNC:612 Unspecified APOD +OMIM:107740 skos:exactMatch UMLS:C1412480 Unspecified APOD +OMIM:107741 skos:exactMatch UMLS:C1862591 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4479657 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4479658 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4479659 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4479660 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C5231510 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C5231509 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C5231508 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C5231507 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C5231506 Unspecified APOE +OMIM:107741 skos:exactMatch HGNC_symbol:APOE Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C5231505 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C5231504 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C5231555 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C5231557 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C5231556 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C3887714 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C2673196 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015880 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015881 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015870 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015871 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015877 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015878 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015879 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015872 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015873 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015869 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015867 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015860 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015861 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4015862 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C0036489 Unspecified APOE +OMIM:107741 skos:exactMatch HGNC:613 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C4540528 Unspecified APOE +OMIM:107741 skos:exactMatch UMLS:C1412481 Unspecified APOE +OMIM:130060 skos:exactMatch UMLS:C4551623 Unspecified ehlers-danlos syndrome, arthrochalasia type, 1 +OMIM:130060 skos:exactMatch ORPHA:1899 Unspecified ehlers-danlos syndrome, arthrochalasia type, 1 +OMIM:107760 skos:exactMatch HGNC:615 Unspecified APOF +OMIM:107760 skos:exactMatch UMLS:C1412483 Unspecified APOF +OMIM:107760 skos:exactMatch HGNC_symbol:APOF Unspecified APOF +OMIM:154020 skos:exactMatch UMLS:C1835171 Unspecified hypomagnesemia 2, renal +OMIM:603203 skos:exactMatch HGNC_symbol:CCNG2 Unspecified CCNG2 +OMIM:603203 skos:exactMatch HGNC:1593 Unspecified CCNG2 +OMIM:603203 skos:exactMatch UMLS:C1413180 Unspecified CCNG2 +OMIM:605866 skos:exactMatch HGNC_symbol:ATP8B3 Unspecified ATP8B3 +OMIM:605866 skos:exactMatch HGNC:13535 Unspecified ATP8B3 +OMIM:605866 skos:exactMatch UMLS:C1422045 Unspecified ATP8B3 +OMIM:603202 skos:exactMatch UMLS:C1416808 Unspecified LCT +OMIM:603202 skos:exactMatch HGNC_symbol:LCT Unspecified LCT +OMIM:603202 skos:exactMatch HGNC:6530 Unspecified LCT +OMIM:130070 skos:exactMatch UMLS:C4552003 Unspecified ehlers-danlos syndrome, spondylodysplastic type, 1 +OMIM:605867 skos:exactMatch HGNC_symbol:ATP8B2 Unspecified ATP8B2 +OMIM:605867 skos:exactMatch HGNC:13534 Unspecified ATP8B2 +OMIM:605867 skos:exactMatch UMLS:C1422044 Unspecified ATP8B2 +OMIM:603205 skos:exactMatch UMLS:C1826265 Unspecified MORC1 +OMIM:603205 skos:exactMatch HGNC:7198 Unspecified MORC1 +OMIM:603205 skos:exactMatch HGNC_symbol:MORC1 Unspecified MORC1 +OMIM:605864 skos:exactMatch HGNC_symbol:B3GNT4 Unspecified B3GNT4 +OMIM:605864 skos:exactMatch HGNC:15683 Unspecified B3GNT4 +OMIM:605864 skos:exactMatch UMLS:C1423655 Unspecified B3GNT4 +OMIM:603204 skos:exactMatch UMLS:C1864125 Unspecified epilepsy, nocturnal frontal lobe, 2 +OMIM:605865 skos:exactMatch HGNC_symbol:TAS1R3 Unspecified TAS1R3 +OMIM:605865 skos:exactMatch HGNC:15661 Unspecified TAS1R3 +OMIM:605865 skos:exactMatch UMLS:C1423638 Unspecified TAS1R3 +OMIM:603207 skos:exactMatch HGNC:17793 Unspecified VTI1B +OMIM:603207 skos:exactMatch HGNC_symbol:VTI1B Unspecified VTI1B +OMIM:603207 skos:exactMatch UMLS:C1425080 Unspecified VTI1B +OMIM:603206 skos:exactMatch UMLS:C1864124 Unspecified schizophrenia 8 +OMIM:603209 skos:exactMatch HGNC:2098 Unspecified cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene +OMIM:603209 skos:exactMatch UMLS:C3146941 Unspecified cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene +OMIM:603209 skos:exactMatch HGNC_symbol:CMAHP Unspecified cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene +OMIM:605868 skos:exactMatch HGNC_symbol:ATP11A Unspecified ATP11A +OMIM:605868 skos:exactMatch HGNC:13552 Unspecified ATP11A +OMIM:605868 skos:exactMatch UMLS:C1422060 Unspecified ATP11A +OMIM:603208 skos:exactMatch UMLS:C1416580 Unspecified KCNJ13 +OMIM:603208 skos:exactMatch HGNC_symbol:KCNJ13 Unspecified KCNJ13 +OMIM:603208 skos:exactMatch HGNC:6259 Unspecified KCNJ13 +OMIM:605869 skos:exactMatch HGNC_symbol:ATP11B Unspecified ATP11B +OMIM:605869 skos:exactMatch HGNC:13553 Unspecified ATP11B +OMIM:605869 skos:exactMatch UMLS:C1422061 Unspecified ATP11B +OMIM:311200 skos:exactMatch UMLS:C1510460 Unspecified orofaciodigital syndrome 1 +OMIM:617851 skos:exactMatch UMLS:C1428999 Unspecified SERTAD2 +OMIM:617851 skos:exactMatch HGNC:30784 Unspecified SERTAD2 +OMIM:617851 skos:exactMatch HGNC_symbol:SERTAD2 Unspecified SERTAD2 +OMIM:617850 skos:exactMatch HGNC:17932 Unspecified SERTAD1 +OMIM:617850 skos:exactMatch UMLS:C1425186 Unspecified SERTAD1 +OMIM:617850 skos:exactMatch HGNC_symbol:SERTAD1 Unspecified SERTAD1 +OMIM:617853 skos:exactMatch HGNC:29204 Unspecified SVBP +OMIM:617853 skos:exactMatch UMLS:C1824548 Unspecified SVBP +OMIM:617853 skos:exactMatch UMLS:C5231413 Unspecified SVBP +OMIM:617853 skos:exactMatch HGNC_symbol:SVBP Unspecified SVBP +OMIM:617852 skos:exactMatch HGNC:17018 Unspecified SEC23IP +OMIM:617852 skos:exactMatch HGNC_symbol:SEC23IP Unspecified SEC23IP +OMIM:617852 skos:exactMatch UMLS:C1424689 Unspecified SEC23IP +OMIM:617844 skos:exactMatch HGNC_symbol:PSMD8 Unspecified PSMD8 +OMIM:617844 skos:exactMatch HGNC:9566 Unspecified PSMD8 +OMIM:617844 skos:exactMatch UMLS:C1419039 Unspecified PSMD8 +OMIM:617843 skos:exactMatch HGNC:1302 Unspecified RWDD2B +OMIM:617843 skos:exactMatch HGNC_symbol:RWDD2B Unspecified RWDD2B +OMIM:617843 skos:exactMatch UMLS:C1412982 Unspecified RWDD2B +OMIM:617846 skos:exactMatch HGNC:18000 Unspecified PHF5A +OMIM:617846 skos:exactMatch HGNC_symbol:PHF5A Unspecified PHF5A +OMIM:617846 skos:exactMatch UMLS:C1425228 Unspecified PHF5A +OMIM:617845 skos:exactMatch HGNC_symbol:MFSD2B Unspecified MFSD2B +OMIM:617845 skos:exactMatch HGNC:37207 Unspecified MFSD2B +OMIM:617845 skos:exactMatch UMLS:C2829656 Unspecified MFSD2B +OMIM:617848 skos:exactMatch HGNC:18681 Unspecified DDX46 +OMIM:617848 skos:exactMatch HGNC_symbol:DDX46 Unspecified DDX46 +OMIM:617848 skos:exactMatch UMLS:C1425701 Unspecified DDX46 +OMIM:617847 skos:exactMatch HGNC:21083 Unspecified SF3B5 +OMIM:617847 skos:exactMatch UMLS:C1427304 Unspecified SF3B5 +OMIM:617847 skos:exactMatch HGNC_symbol:SF3B5 Unspecified SF3B5 +OMIM:617849 skos:exactMatch HGNC:30855 Unspecified U2SURP +OMIM:617849 skos:exactMatch HGNC_symbol:U2SURP Unspecified U2SURP +OMIM:617849 skos:exactMatch UMLS:C3146845 Unspecified U2SURP +OMIM:107720 skos:exactMatch UMLS:C1412478 Unspecified APOC3 +OMIM:107720 skos:exactMatch UMLS:C3152050 Unspecified APOC3 +OMIM:107720 skos:exactMatch HGNC_symbol:APOC3 Unspecified APOC3 +OMIM:107720 skos:exactMatch HGNC:610 Unspecified APOC3 +OMIM:605870 skos:exactMatch UMLS:C1366628 Unspecified ATP8A2 +OMIM:605870 skos:exactMatch HGNC:13533 Unspecified ATP8A2 +OMIM:605870 skos:exactMatch HGNC_symbol:ATP8A2 Unspecified ATP8A2 +OMIM:603210 skos:exactMatch UMLS:C1416531 Unspecified JRK +OMIM:603210 skos:exactMatch HGNC_symbol:JRK Unspecified JRK +OMIM:603210 skos:exactMatch HGNC:6199 Unspecified JRK +OMIM:605873 skos:exactMatch UMLS:C1416592 Unspecified KCNK10 +OMIM:605873 skos:exactMatch HGNC:6273 Unspecified KCNK10 +OMIM:605873 skos:exactMatch HGNC_symbol:KCNK10 Unspecified KCNK10 +OMIM:154030 skos:exactMatch HGNC_symbol:YBX1 Unspecified YBX1 +OMIM:154030 skos:exactMatch HGNC:8014 Unspecified YBX1 +OMIM:154030 skos:exactMatch UMLS:C1823882 Unspecified YBX1 +OMIM:605874 skos:exactMatch UMLS:C1416601 Unspecified KCNK9 +OMIM:605874 skos:exactMatch HGNC_symbol:KCNK9 Unspecified KCNK9 +OMIM:605874 skos:exactMatch HGNC:6283 Unspecified KCNK9 +OMIM:605874 skos:exactMatch UMLS:C2676770 Unspecified KCNK9 +OMIM:120700 skos:exactMatch UMLS:C1332655 Unspecified C3 +OMIM:120700 skos:exactMatch UMLS:C1332656 Unspecified C3 +OMIM:120700 skos:exactMatch UMLS:C2752037 Unspecified C3 +OMIM:120700 skos:exactMatch UMLS:C4015972 Unspecified C3 +OMIM:120700 skos:exactMatch UMLS:C4015971 Unspecified C3 +OMIM:120700 skos:exactMatch HGNC:1318 Unspecified C3 +OMIM:120700 skos:exactMatch HGNC_symbol:C3 Unspecified C3 +OMIM:120700 skos:exactMatch UMLS:C4017429 Unspecified C3 +OMIM:130080 skos:exactMatch UMLS:C0268347 Unspecified ehlers-danlos syndrome, periodontal type, 1 +OMIM:130080 skos:exactMatch UMLS:C4551499 Unspecified ehlers-danlos syndrome, periodontal type, 1 +OMIM:130080 skos:exactMatch ORPHA:75392 Unspecified ehlers-danlos syndrome, periodontal type, 1 +OMIM:603212 skos:exactMatch HGNC:1041 Unspecified BFSP2 +OMIM:603212 skos:exactMatch HGNC_symbol:BFSP2 Unspecified BFSP2 +OMIM:603212 skos:exactMatch UMLS:C1412790 Unspecified BFSP2 +OMIM:178000 skos:exactMatch UMLS:C1867441 Unspecified pterygium of conjunctiva and cornea +OMIM:605872 skos:exactMatch HGNC_symbol:CLEC4M Unspecified CLEC4M +OMIM:605872 skos:exactMatch UMLS:C1539099 Unspecified CLEC4M +OMIM:605872 skos:exactMatch HGNC:13523 Unspecified CLEC4M +OMIM:603211 skos:exactMatch UMLS:C1416532 Unspecified JRKL +OMIM:603211 skos:exactMatch HGNC:6200 Unspecified JRKL +OMIM:603211 skos:exactMatch HGNC_symbol:JRKL Unspecified JRKL +OMIM:605855 skos:exactMatch HGNC_symbol:ATP10A Unspecified ATP10A +OMIM:605855 skos:exactMatch HGNC:13542 Unspecified ATP10A +OMIM:605855 skos:exactMatch UMLS:C1422052 Unspecified ATP10A +OMIM:605856 skos:exactMatch UMLS:C1970039 Unspecified short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting +OMIM:605853 skos:exactMatch HGNC_symbol:CLASP2 Unspecified CLASP2 +OMIM:605853 skos:exactMatch HGNC:17078 Unspecified CLASP2 +OMIM:605853 skos:exactMatch UMLS:C1424727 Unspecified CLASP2 +OMIM:264480 skos:exactMatch ORPHA:2166 Unspecified pseudotrisomy 13 syndrome +OMIM:264480 skos:exactMatch UMLS:C1849649 Unspecified pseudotrisomy 13 syndrome +OMIM:605854 skos:exactMatch HGNC:17868 Unspecified BBC3 +OMIM:605854 skos:exactMatch HGNC_symbol:BBC3 Unspecified BBC3 +OMIM:605854 skos:exactMatch UMLS:C1425143 Unspecified BBC3 +OMIM:605859 skos:exactMatch HGNC_symbol:ZBTB32 Unspecified ZBTB32 +OMIM:605859 skos:exactMatch HGNC:16763 Unspecified ZBTB32 +OMIM:605859 skos:exactMatch UMLS:C1823904 Unspecified ZBTB32 +OMIM:605857 skos:exactMatch HGNC:17736 Unspecified RHOQ +OMIM:605857 skos:exactMatch UMLS:C1425056 Unspecified RHOQ +OMIM:605857 skos:exactMatch HGNC_symbol:RHOQ Unspecified RHOQ +OMIM:605858 skos:exactMatch HGNC_symbol:SCRT1 Unspecified SCRT1 +OMIM:605858 skos:exactMatch UMLS:C1423854 Unspecified SCRT1 +OMIM:605858 skos:exactMatch HGNC:15950 Unspecified SCRT1 +OMIM:617840 skos:exactMatch HGNC_symbol:TRIT1 Unspecified TRIT1 +OMIM:617840 skos:exactMatch HGNC:20286 Unspecified TRIT1 +OMIM:617840 skos:exactMatch UMLS:C1426839 Unspecified TRIT1 +OMIM:617842 skos:exactMatch HGNC:9554 Unspecified PSMD1 +OMIM:617842 skos:exactMatch UMLS:C1419027 Unspecified PSMD1 +OMIM:617842 skos:exactMatch HGNC_symbol:PSMD1 Unspecified PSMD1 +OMIM:617841 skos:exactMatch UMLS:C1538740 Unspecified PSMA8 +OMIM:617841 skos:exactMatch HGNC:22985 Unspecified PSMA8 +OMIM:617841 skos:exactMatch HGNC_symbol:PSMA8 Unspecified PSMA8 +OMIM:617833 skos:exactMatch UMLS:C4693375 Unspecified ZFHX2AS1 +OMIM:617833 skos:exactMatch HGNC_symbol:ZFHX2-AS1 Unspecified ZFHX2AS1 +OMIM:617833 skos:exactMatch HGNC:52658 Unspecified ZFHX2AS1 +OMIM:617832 skos:exactMatch UMLS:C2680430 Unspecified SNTN +OMIM:617832 skos:exactMatch HGNC:33706 Unspecified SNTN +OMIM:617832 skos:exactMatch HGNC_symbol:SNTN Unspecified SNTN +OMIM:617835 skos:exactMatch HGNC_symbol:PDPR Unspecified PDPR +OMIM:617835 skos:exactMatch UMLS:C3148578 Unspecified PDPR +OMIM:617835 skos:exactMatch HGNC:30264 Unspecified PDPR +OMIM:617834 skos:exactMatch HGNC_symbol:PLEKHJ1 Unspecified PLEKHJ1 +OMIM:617834 skos:exactMatch HGNC:18211 Unspecified PLEKHJ1 +OMIM:617834 skos:exactMatch UMLS:C1425376 Unspecified PLEKHJ1 +OMIM:617837 skos:exactMatch HGNC_symbol:GFRAL Unspecified GFRAL +OMIM:617837 skos:exactMatch UMLS:C1825343 Unspecified GFRAL +OMIM:617837 skos:exactMatch HGNC:32789 Unspecified GFRAL +OMIM:617836 skos:exactMatch UMLS:C4693376 Unspecified developmental delay and seizures with or without movement abnormalities +OMIM:617839 skos:exactMatch UMLS:C4693381 Unspecified amyotrophic lateral sclerosis 23 +OMIM:617838 skos:exactMatch UMLS:C4084692 Unspecified FAM234B +OMIM:617838 skos:exactMatch HGNC:29288 Unspecified FAM234B +OMIM:617838 skos:exactMatch HGNC_symbol:FAM234B Unspecified FAM234B +OMIM:154045 skos:exactMatch HGNC:6610 Unspecified LIM2 +OMIM:154045 skos:exactMatch UMLS:C1416862 Unspecified LIM2 +OMIM:154045 skos:exactMatch HGNC_symbol:LIM2 Unspecified LIM2 +OMIM:107730 skos:exactMatch UMLS:C1862595 Unspecified APOB +OMIM:107730 skos:exactMatch UMLS:C1862594 Unspecified APOB +OMIM:107730 skos:exactMatch HGNC_symbol:APOB Unspecified APOB +OMIM:107730 skos:exactMatch UMLS:C0103839 Unspecified APOB +OMIM:107730 skos:exactMatch HGNC:603 Unspecified APOB +OMIM:107730 skos:exactMatch UMLS:C3252643 Unspecified APOB +OMIM:107730 skos:exactMatch UMLS:C1412471 Unspecified APOB +OMIM:605862 skos:exactMatch HGNC_symbol:RXYLT1 Unspecified RXYLT1 +OMIM:605862 skos:exactMatch HGNC:13530 Unspecified RXYLT1 +OMIM:605862 skos:exactMatch UMLS:C1422041 Unspecified RXYLT1 +OMIM:605863 skos:exactMatch HGNC_symbol:B3GNT3 Unspecified B3GNT3 +OMIM:605863 skos:exactMatch HGNC:13528 Unspecified B3GNT3 +OMIM:605863 skos:exactMatch UMLS:C1422039 Unspecified B3GNT3 +OMIM:603201 skos:exactMatch HGNC:42 Unspecified ABCB11 +OMIM:603201 skos:exactMatch HGNC_symbol:ABCB11 Unspecified ABCB11 +OMIM:603201 skos:exactMatch UMLS:C1412070 Unspecified ABCB11 +OMIM:154040 skos:exactMatch HGNC:13974 Unspecified NELFE +OMIM:154040 skos:exactMatch UMLS:C1422315 Unspecified NELFE +OMIM:154040 skos:exactMatch HGNC_symbol:NELFE Unspecified NELFE +OMIM:605860 skos:exactMatch UMLS:C1414162 Unspecified RCAN3 +OMIM:605860 skos:exactMatch HGNC:3042 Unspecified RCAN3 +OMIM:605860 skos:exactMatch HGNC_symbol:RCAN3 Unspecified RCAN3 +OMIM:605861 skos:exactMatch HGNC_symbol:CNPY2 Unspecified CNPY2 +OMIM:605861 skos:exactMatch HGNC:13529 Unspecified CNPY2 +OMIM:605861 skos:exactMatch UMLS:C1422040 Unspecified CNPY2 +OMIM:603200 skos:exactMatch HGNC:9987 Unspecified RFXANK +OMIM:603200 skos:exactMatch UMLS:C1859535 Unspecified RFXANK +OMIM:603200 skos:exactMatch UMLS:C1419364 Unspecified RFXANK +OMIM:603200 skos:exactMatch HGNC_symbol:RFXANK Unspecified RFXANK +OMIM:130090 skos:exactMatch UMLS:C0220679 Unspecified ehlers-danlos syndrome, autosomal dominant, iia unspecified +OMIM:264470 skos:exactMatch ORPHA:2971 Unspecified peroxisomal acyl-coa oxidase deficiency +OMIM:264470 skos:exactMatch UMLS:C1849678 Unspecified peroxisomal acyl-coa oxidase deficiency +OMIM:605844 skos:exactMatch UMLS:C1853900 Unspecified dermatitis, atopic, 5 +OMIM:605845 skos:exactMatch UMLS:C1853899 Unspecified dermatitis, atopic, 6 +OMIM:605842 skos:exactMatch HGNC:11586 Unspecified TBL2 +OMIM:605842 skos:exactMatch UMLS:C1420600 Unspecified TBL2 +OMIM:605842 skos:exactMatch HGNC_symbol:TBL2 Unspecified TBL2 +OMIM:605843 skos:exactMatch HGNC_symbol:PECR Unspecified PECR +OMIM:605843 skos:exactMatch HGNC:18281 Unspecified PECR +OMIM:605843 skos:exactMatch UMLS:C1425418 Unspecified PECR +OMIM:605848 skos:exactMatch HGNC:1502 Unspecified CASP14 +OMIM:605848 skos:exactMatch UMLS:C1413131 Unspecified CASP14 +OMIM:605848 skos:exactMatch HGNC_symbol:CASP14 Unspecified CASP14 +OMIM:264475 skos:exactMatch UMLS:C1849661 Unspecified pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies +OMIM:605849 skos:exactMatch UMLS:C1539294 Unspecified DMGDH +OMIM:605849 skos:exactMatch HGNC_symbol:DMGDH Unspecified DMGDH +OMIM:605849 skos:exactMatch HGNC:24475 Unspecified DMGDH +OMIM:605846 skos:exactMatch UMLS:C1412767 Unspecified BCL7B +OMIM:605846 skos:exactMatch HGNC:1005 Unspecified BCL7B +OMIM:605846 skos:exactMatch HGNC_symbol:BCL7B Unspecified BCL7B +OMIM:605847 skos:exactMatch UMLS:C1412768 Unspecified BCL7C +OMIM:605847 skos:exactMatch HGNC:1006 Unspecified BCL7C +OMIM:605847 skos:exactMatch HGNC_symbol:BCL7C Unspecified BCL7C +OMIM:617831 skos:exactMatch UMLS:C4693371 Unspecified intellectual developmental disorder, autosomal dominant 55, with seizures +OMIM:617830 skos:exactMatch UMLS:C4693367 Unspecified developmental and epileptic encephalopathy 58 +OMIM:617830 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 58 +OMIM:617822 skos:exactMatch UMLS:C4693347 Unspecified alkuraya-kucinskas syndrome +OMIM:617821 skos:exactMatch UMLS:C1851801 Unspecified ehlers-danlos syndrome, arthrochalasia type, 2 +OMIM:617824 skos:exactMatch HGNC:12760 Unspecified BRWD1 +OMIM:617824 skos:exactMatch HGNC_symbol:BRWD1 Unspecified BRWD1 +OMIM:617824 skos:exactMatch UMLS:C1823189 Unspecified BRWD1 +OMIM:617823 skos:exactMatch HGNC_symbol:PWWP2A Unspecified PWWP2A +OMIM:617823 skos:exactMatch UMLS:C2239866 Unspecified PWWP2A +OMIM:617823 skos:exactMatch HGNC:29406 Unspecified PWWP2A +OMIM:617826 skos:exactMatch HGNC_symbol:UNC50 Unspecified UNC50 +OMIM:617826 skos:exactMatch UMLS:C1423936 Unspecified UNC50 +OMIM:617826 skos:exactMatch HGNC:16046 Unspecified UNC50 +OMIM:617825 skos:exactMatch UMLS:C4540522 Unspecified glucocorticoid deficiency 5 +OMIM:617828 skos:exactMatch UMLS:C1426736 Unspecified ZFHX2 +OMIM:617828 skos:exactMatch HGNC:20152 Unspecified ZFHX2 +OMIM:617828 skos:exactMatch HGNC_symbol:ZFHX2 Unspecified ZFHX2 +OMIM:617827 skos:exactMatch UMLS:C4693356 Unspecified immunodeficiency 55 +OMIM:617829 skos:exactMatch UMLS:C4693362 Unspecified developmental and epileptic encephalopathy 92 +OMIM:605851 skos:exactMatch UMLS:C1415845 Unspecified ICMT +OMIM:605851 skos:exactMatch HGNC_symbol:ICMT Unspecified ICMT +OMIM:605851 skos:exactMatch HGNC:5350 Unspecified ICMT +OMIM:605852 skos:exactMatch HGNC_symbol:CLASP1 Unspecified CLASP1 +OMIM:605852 skos:exactMatch HGNC:17088 Unspecified CLASP1 +OMIM:605852 skos:exactMatch UMLS:C1424735 Unspecified CLASP1 +OMIM:107700 skos:exactMatch UMLS:C1862632 Unspecified appendicitis, proneness to +OMIM:154050 skos:exactMatch UMLS:C1417170 Unspecified MIP +OMIM:154050 skos:exactMatch HGNC:7103 Unspecified MIP +OMIM:154050 skos:exactMatch HGNC_symbol:MIP Unspecified MIP +OMIM:605850 skos:exactMatch UMLS:C1853892 Unspecified dimethylglycine dehydrogenase deficiency +OMIM:605833 skos:exactMatch UMLS:C1853912 Unspecified bone mineral density quantitative trait locus 2 +OMIM:605834 skos:exactMatch HGNC_symbol:TMOD4 Unspecified TMOD4 +OMIM:605834 skos:exactMatch HGNC:11874 Unspecified TMOD4 +OMIM:605834 skos:exactMatch UMLS:C1420782 Unspecified TMOD4 +OMIM:605831 skos:exactMatch HGNC_symbol:FGF22 Unspecified FGF22 +OMIM:605831 skos:exactMatch HGNC:3679 Unspecified FGF22 +OMIM:605831 skos:exactMatch UMLS:C1414604 Unspecified FGF22 +OMIM:301870 skos:exactMatch UMLS:C1412792 Unspecified BGN +OMIM:301870 skos:exactMatch HGNC:1044 Unspecified BGN +OMIM:301870 skos:exactMatch HGNC_symbol:BGN Unspecified BGN +OMIM:605832 skos:exactMatch UMLS:C1825842 Unspecified ACSS2 +OMIM:605832 skos:exactMatch HGNC_symbol:ACSS2 Unspecified ACSS2 +OMIM:605832 skos:exactMatch HGNC:15814 Unspecified ACSS2 +OMIM:605837 skos:exactMatch HGNC:4868 Unspecified HERC2 +OMIM:605837 skos:exactMatch UMLS:C1415512 Unspecified HERC2 +OMIM:605837 skos:exactMatch HGNC_symbol:HERC2 Unspecified HERC2 +OMIM:605838 skos:exactMatch UMLS:C1853911 Unspecified baby rattle pelvis dysplasia +OMIM:605835 skos:exactMatch HGNC:11869 Unspecified TMEM2 +OMIM:605835 skos:exactMatch UMLS:C1420777 Unspecified TMEM2 +OMIM:605835 skos:exactMatch HGNC_symbol:CEMIP2 Unspecified TMEM2 +OMIM:605836 skos:exactMatch HGNC:12566 Unspecified UNC13B +OMIM:605836 skos:exactMatch UMLS:C1421356 Unspecified UNC13B +OMIM:605836 skos:exactMatch HGNC_symbol:UNC13B Unspecified UNC13B +OMIM:617820 skos:exactMatch UMLS:C4693325 Unspecified neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive +OMIM:617811 skos:exactMatch HGNC_symbol:SMU1 Unspecified SMU1 +OMIM:617811 skos:exactMatch UMLS:C1539795 Unspecified SMU1 +OMIM:617811 skos:exactMatch HGNC:18247 Unspecified SMU1 +OMIM:617810 skos:exactMatch UMLS:C4540520 Unspecified glycosylphosphatidylinositol biosynthesis defect 15 +OMIM:617813 skos:exactMatch UMLS:C1823350 Unspecified TMEM88 +OMIM:617813 skos:exactMatch HGNC_symbol:TMEM88 Unspecified TMEM88 +OMIM:617813 skos:exactMatch HGNC:32371 Unspecified TMEM88 +OMIM:617812 skos:exactMatch HGNC_symbol:SLC35G2 Unspecified SLC35G2 +OMIM:617812 skos:exactMatch HGNC:28480 Unspecified SLC35G2 +OMIM:617812 skos:exactMatch UMLS:C3469827 Unspecified SLC35G2 +OMIM:313850 skos:exactMatch UMLS:C1839173 Unspecified thoracoabdominal syndrome +OMIM:313850 skos:exactMatch UMLS:C0559483 Unspecified thoracoabdominal syndrome +OMIM:617815 skos:exactMatch HGNC:30347 Unspecified POLR3E +OMIM:617815 skos:exactMatch HGNC_symbol:POLR3E Unspecified POLR3E +OMIM:617815 skos:exactMatch UMLS:C1538698 Unspecified POLR3E +OMIM:617814 skos:exactMatch HGNC:27898 Unspecified TMEM95 +OMIM:617814 skos:exactMatch UMLS:C1823356 Unspecified TMEM95 +OMIM:617814 skos:exactMatch HGNC_symbol:TMEM95 Unspecified TMEM95 +OMIM:617817 skos:exactMatch UMLS:C1425637 Unspecified TUBGCP2 +OMIM:617817 skos:exactMatch UMLS:C5231486 Unspecified TUBGCP2 +OMIM:617817 skos:exactMatch UMLS:C5231550 Unspecified TUBGCP2 +OMIM:617817 skos:exactMatch HGNC_symbol:TUBGCP2 Unspecified TUBGCP2 +OMIM:617817 skos:exactMatch HGNC:18599 Unspecified TUBGCP2 +OMIM:617816 skos:exactMatch UMLS:C4540521 Unspecified glycosylphosphatidylinositol biosynthesis defect 16 +OMIM:617819 skos:exactMatch HGNC_symbol:RALGPS2 Unspecified RALGPS2 +OMIM:617819 skos:exactMatch HGNC:30279 Unspecified RALGPS2 +OMIM:617819 skos:exactMatch UMLS:C1538781 Unspecified RALGPS2 +OMIM:107710 skos:exactMatch UMLS:C1412475 Unspecified APOC1 +OMIM:107710 skos:exactMatch HGNC_symbol:APOC1 Unspecified APOC1 +OMIM:107710 skos:exactMatch HGNC:607 Unspecified APOC1 +OMIM:617818 skos:exactMatch UMLS:C1425636 Unspecified TUBGCP3 +OMIM:617818 skos:exactMatch HGNC_symbol:TUBGCP3 Unspecified TUBGCP3 +OMIM:617818 skos:exactMatch HGNC:18598 Unspecified TUBGCP3 +OMIM:605840 skos:exactMatch HGNC_symbol:RNF111 Unspecified RNF111 +OMIM:605840 skos:exactMatch HGNC:17384 Unspecified RNF111 +OMIM:605840 skos:exactMatch UMLS:C1424951 Unspecified RNF111 +OMIM:605841 skos:exactMatch UMLS:C1853901 Unspecified narcolepsy 2, susceptibility to +OMIM:603247 skos:exactMatch HGNC_symbol:SLC27A2 Unspecified SLC27A2 +OMIM:603247 skos:exactMatch UMLS:C1420164 Unspecified SLC27A2 +OMIM:603247 skos:exactMatch HGNC:10996 Unspecified SLC27A2 +OMIM:603246 skos:exactMatch HGNC_symbol:GTF3C1 Unspecified GTF3C1 +OMIM:603246 skos:exactMatch UMLS:C1333724 Unspecified GTF3C1 +OMIM:603246 skos:exactMatch HGNC:4664 Unspecified GTF3C1 +OMIM:603249 skos:exactMatch HGNC_symbol:NIPSNAP1 Unspecified NIPSNAP1 +OMIM:603249 skos:exactMatch HGNC:7827 Unspecified NIPSNAP1 +OMIM:603249 skos:exactMatch UMLS:C1417731 Unspecified NIPSNAP1 +OMIM:603248 skos:exactMatch HGNC:1077 Unspecified BMPR1B +OMIM:603248 skos:exactMatch UMLS:C1412807 Unspecified BMPR1B +OMIM:603248 skos:exactMatch HGNC_symbol:BMPR1B Unspecified BMPR1B +OMIM:617891 skos:exactMatch HGNC:30899 Unspecified ZNF655 +OMIM:617891 skos:exactMatch UMLS:C1538223 Unspecified ZNF655 +OMIM:617891 skos:exactMatch HGNC_symbol:ZNF655 Unspecified ZNF655 +OMIM:617890 skos:exactMatch HGNC:25406 Unspecified ZNF664 +OMIM:617890 skos:exactMatch UMLS:C1538229 Unspecified ZNF664 +OMIM:617890 skos:exactMatch HGNC_symbol:ZNF664 Unspecified ZNF664 +OMIM:615230 skos:exactMatch HGNC:49123 Unspecified LINC01080 +OMIM:615230 skos:exactMatch HGNC_symbol:LINC01080 Unspecified LINC01080 +OMIM:615230 skos:exactMatch UMLS:C3808912 Unspecified LINC01080 +OMIM:617893 skos:exactMatch HGNC:13631 Unspecified RPL36 +OMIM:617893 skos:exactMatch HGNC_symbol:RPL36 Unspecified RPL36 +OMIM:617893 skos:exactMatch UMLS:C1422119 Unspecified RPL36 +OMIM:615231 skos:exactMatch HGNC_symbol:RC3H2 Unspecified RC3H2 +OMIM:615231 skos:exactMatch UMLS:C1537928 Unspecified RC3H2 +OMIM:615231 skos:exactMatch HGNC:21461 Unspecified RC3H2 +OMIM:617892 skos:exactMatch UMLS:C4693523 Unspecified amyotrophic lateral sclerosis, susceptibility to, 24 +OMIM:617892 skos:exactMatch ORPHA:803 Unspecified amyotrophic lateral sclerosis, susceptibility to, 24 +OMIM:617895 skos:exactMatch UMLS:C4693524 Unspecified short-rib thoracic dysplasia 19 with or without polydactyly +OMIM:615232 skos:exactMatch UMLS:C3808913 Unspecified schizophrenia 18 +OMIM:615233 skos:exactMatch UMLS:C3715216 Unspecified retinitis pigmentosa 66 +OMIM:617894 skos:exactMatch HGNC_symbol:TMEM50B Unspecified TMEM50B +OMIM:617894 skos:exactMatch HGNC:1280 Unspecified TMEM50B +OMIM:617894 skos:exactMatch UMLS:C1823311 Unspecified TMEM50B +OMIM:615234 skos:exactMatch UMLS:C3808920 Unspecified anemia, hypochromic microcytic, with iron overload 2 +OMIM:617897 skos:exactMatch UMLS:C2681659 Unspecified CSKMT +OMIM:617897 skos:exactMatch HGNC_symbol:CSKMT Unspecified CSKMT +OMIM:617897 skos:exactMatch HGNC:33113 Unspecified CSKMT +OMIM:617896 skos:exactMatch UMLS:C1426858 Unspecified ZIC5 +OMIM:617896 skos:exactMatch HGNC_symbol:ZIC5 Unspecified ZIC5 +OMIM:617896 skos:exactMatch HGNC:20322 Unspecified ZIC5 +OMIM:615235 skos:exactMatch UMLS:C3808935 Unspecified cardiomyopathy, dilated, 1jj +OMIM:311240 skos:exactMatch UMLS:C1823246 Unspecified TBC1D25 +OMIM:311240 skos:exactMatch HGNC:8092 Unspecified TBC1D25 +OMIM:311240 skos:exactMatch HGNC_symbol:TBC1D25 Unspecified TBC1D25 +OMIM:311250 skos:exactMatch UMLS:C0268542 Unspecified ornithine transcarbamylase deficiency, hyperammonemia due to +OMIM:311250 skos:exactMatch ORPHA:664 Unspecified ornithine transcarbamylase deficiency, hyperammonemia due to +OMIM:617888 skos:exactMatch HGNC:29473 Unspecified ZNF580 +OMIM:617888 skos:exactMatch UMLS:C1428861 Unspecified ZNF580 +OMIM:617888 skos:exactMatch HGNC_symbol:ZNF580 Unspecified ZNF580 +OMIM:615225 skos:exactMatch UMLS:C3808876 Unspecified palmoplantar carcinoma, multiple self-healing +OMIM:615225 skos:exactMatch ORPHA:352662 Unspecified palmoplantar carcinoma, multiple self-healing +OMIM:617887 skos:exactMatch UMLS:C1425503 Unspecified AGMAT +OMIM:617887 skos:exactMatch HGNC_symbol:AGMAT Unspecified AGMAT +OMIM:617887 skos:exactMatch HGNC:18407 Unspecified AGMAT +OMIM:615226 skos:exactMatch UMLS:C3808889 Unspecified polydactyly, postaxial, iia a6 +OMIM:615227 skos:exactMatch HGNC:19359 Unspecified C1QL3 +OMIM:615227 skos:exactMatch UMLS:C1538977 Unspecified C1QL3 +OMIM:615227 skos:exactMatch HGNC_symbol:C1QL3 Unspecified C1QL3 +OMIM:615228 skos:exactMatch UMLS:C3808899 Unspecified mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4 +OMIM:615228 skos:exactMatch ORPHA:254913 Unspecified mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4 +OMIM:617889 skos:exactMatch HGNC_symbol:PYROXD2 Unspecified PYROXD2 +OMIM:617889 skos:exactMatch HGNC:23517 Unspecified PYROXD2 +OMIM:617889 skos:exactMatch UMLS:C1428119 Unspecified PYROXD2 +OMIM:615229 skos:exactMatch HGNC_symbol:C1QL4 Unspecified C1QL4 +OMIM:615229 skos:exactMatch HGNC:31416 Unspecified C1QL4 +OMIM:615229 skos:exactMatch UMLS:C1538978 Unspecified C1QL4 +OMIM:603250 skos:exactMatch HGNC_symbol:FOXF2 Unspecified FOXF2 +OMIM:603250 skos:exactMatch HGNC:3810 Unspecified FOXF2 +OMIM:603250 skos:exactMatch UMLS:C1414678 Unspecified FOXF2 +OMIM:603252 skos:exactMatch HGNC_symbol:FOXL1 Unspecified FOXL1 +OMIM:603252 skos:exactMatch HGNC:3817 Unspecified FOXL1 +OMIM:603252 skos:exactMatch UMLS:C1414684 Unspecified FOXL1 +OMIM:603251 skos:exactMatch HGNC_symbol:CDK9 Unspecified CDK9 +OMIM:603251 skos:exactMatch HGNC:1780 Unspecified CDK9 +OMIM:603251 skos:exactMatch UMLS:C1413290 Unspecified CDK9 +OMIM:603254 skos:exactMatch UMLS:C1335843 Unspecified SMARCA4 +OMIM:603254 skos:exactMatch HGNC:11100 Unspecified SMARCA4 +OMIM:603254 skos:exactMatch UMLS:C2750074 Unspecified SMARCA4 +OMIM:603254 skos:exactMatch UMLS:C3553249 Unspecified SMARCA4 +OMIM:603254 skos:exactMatch HGNC_symbol:SMARCA4 Unspecified SMARCA4 +OMIM:603253 skos:exactMatch UMLS:C1413776 Unspecified CST7 +OMIM:603253 skos:exactMatch HGNC_symbol:CST7 Unspecified CST7 +OMIM:603253 skos:exactMatch HGNC:2479 Unspecified CST7 +OMIM:603256 skos:exactMatch HGNC_symbol:LRRFIP1 Unspecified LRRFIP1 +OMIM:603256 skos:exactMatch HGNC:6702 Unspecified LRRFIP1 +OMIM:603256 skos:exactMatch UMLS:C1416921 Unspecified LRRFIP1 +OMIM:603255 skos:exactMatch HGNC:7803 Unspecified NFX1 +OMIM:603255 skos:exactMatch HGNC_symbol:NFX1 Unspecified NFX1 +OMIM:603255 skos:exactMatch UMLS:C1417714 Unspecified NFX1 +OMIM:605899 skos:exactMatch UMLS:C0268560 Unspecified glycine encephalopathy +OMIM:605899 skos:exactMatch UMLS:C0751748 Unspecified glycine encephalopathy +OMIM:603236 skos:exactMatch HGNC_symbol:MVD Unspecified MVD +OMIM:603236 skos:exactMatch HGNC:7529 Unspecified MVD +OMIM:603236 skos:exactMatch UMLS:C1417507 Unspecified MVD +OMIM:603235 skos:exactMatch HGNC_symbol:SELENOW Unspecified SELENOW +OMIM:603235 skos:exactMatch UMLS:C1419969 Unspecified SELENOW +OMIM:603235 skos:exactMatch HGNC:10752 Unspecified SELENOW +OMIM:603238 skos:exactMatch HGNC_symbol:SNHG3 Unspecified RNU17D +OMIM:603238 skos:exactMatch UMLS:C1864075 Unspecified RNU17D +OMIM:603238 skos:exactMatch UMLS:C1419465 Unspecified RNU17D +OMIM:603238 skos:exactMatch HGNC:10118 Unspecified RNU17D +OMIM:605897 skos:exactMatch HGNC:15663 Unspecified UGGT1 +OMIM:605897 skos:exactMatch HGNC_symbol:UGGT1 Unspecified UGGT1 +OMIM:605897 skos:exactMatch UMLS:C1423640 Unspecified UGGT1 +OMIM:603237 skos:exactMatch UMLS:C1414424 Unspecified EPB41L2 +OMIM:603237 skos:exactMatch HGNC_symbol:EPB41L2 Unspecified EPB41L2 +OMIM:603237 skos:exactMatch HGNC:3379 Unspecified EPB41L2 +OMIM:605898 skos:exactMatch HGNC:15664 Unspecified UGGT2 +OMIM:605898 skos:exactMatch HGNC_symbol:UGGT2 Unspecified UGGT2 +OMIM:605898 skos:exactMatch UMLS:C1423641 Unspecified UGGT2 +OMIM:191039 skos:exactMatch UMLS:C1420823 Unspecified TNNC2 +OMIM:191039 skos:exactMatch HGNC_symbol:TNNC2 Unspecified TNNC2 +OMIM:191039 skos:exactMatch HGNC:11944 Unspecified TNNC2 +OMIM:603239 skos:exactMatch HGNC_symbol:SNORA73B Unspecified SNORA73B +OMIM:603239 skos:exactMatch UMLS:C1419463 Unspecified SNORA73B +OMIM:603239 skos:exactMatch HGNC:10116 Unspecified SNORA73B +OMIM:617880 skos:exactMatch HGNC:26658 Unspecified POC5 +OMIM:617880 skos:exactMatch UMLS:C2240270 Unspecified POC5 +OMIM:617880 skos:exactMatch HGNC_symbol:POC5 Unspecified POC5 +OMIM:617882 skos:exactMatch UMLS:C4693509 Unspecified charcot-marie-tooth disease, dominant intermediate g +OMIM:617881 skos:exactMatch HGNC_symbol:C4orf54 Unspecified C4ORF54 +OMIM:617881 skos:exactMatch HGNC:27741 Unspecified C4ORF54 +OMIM:617881 skos:exactMatch UMLS:C4554750 Unspecified C4ORF54 +OMIM:615220 skos:exactMatch UMLS:C3808844 Unspecified osteogenesis imperfecta, iia 15 +OMIM:617884 skos:exactMatch HGNC_symbol:HDGFL2 Unspecified HDGFL2 +OMIM:617884 skos:exactMatch HGNC:14680 Unspecified HDGFL2 +OMIM:617884 skos:exactMatch UMLS:C4320396 Unspecified HDGFL2 +OMIM:615221 skos:exactMatch UMLS:C3714945 Unspecified bone mineral density quantitative trait locus 16 +OMIM:617883 skos:exactMatch UMLS:C4554406 Unspecified fanconi anemia, complementation group s +OMIM:615222 skos:exactMatch UMLS:C3714896 Unspecified smith-mccort dysplasia 2 +OMIM:615223 skos:exactMatch HGNC_symbol:IFNE Unspecified IFNE +OMIM:615223 skos:exactMatch UMLS:C2681609 Unspecified IFNE +OMIM:615223 skos:exactMatch HGNC:18163 Unspecified IFNE +OMIM:617886 skos:exactMatch HGNC_symbol:ZNF512B Unspecified ZNF512B +OMIM:617886 skos:exactMatch UMLS:C2240200 Unspecified ZNF512B +OMIM:617886 skos:exactMatch HGNC:29212 Unspecified ZNF512B +OMIM:617885 skos:exactMatch UMLS:C4693522 Unspecified body mass index quantitative trait locus 19 +OMIM:615224 skos:exactMatch UMLS:C3808874 Unspecified advanced sleep phase syndrome, familial, 2 +OMIM:615214 skos:exactMatch UMLS:C3554689 Unspecified agammaglobulinemia 7, autosomal recessive +OMIM:617877 skos:exactMatch UMLS:C4693481 Unspecified short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 +OMIM:617876 skos:exactMatch HGNC_symbol:RNU7-1 Unspecified RNU7-1 +OMIM:617876 skos:exactMatch UMLS:C2678677 Unspecified RNU7-1 +OMIM:617876 skos:exactMatch HGNC:34033 Unspecified RNU7-1 +OMIM:615215 skos:exactMatch HGNC:18867 Unspecified KCNU1 +OMIM:615215 skos:exactMatch HGNC_symbol:KCNU1 Unspecified KCNU1 +OMIM:615215 skos:exactMatch UMLS:C1425838 Unspecified KCNU1 +OMIM:617879 skos:exactMatch UMLS:C4693498 Unspecified leber congenital amaurosis with early-onset deafness +OMIM:615216 skos:exactMatch HGNC:29530 Unspecified KIFC2 +OMIM:615216 skos:exactMatch UMLS:C1428868 Unspecified KIFC2 +OMIM:615216 skos:exactMatch HGNC_symbol:KIFC2 Unspecified KIFC2 +OMIM:615217 skos:exactMatch UMLS:C3554690 Unspecified ataxia-oculomotor apraxia 3 +OMIM:617878 skos:exactMatch HGNC_symbol:TUBA3D Unspecified TUBA3D +OMIM:617878 skos:exactMatch HGNC:24071 Unspecified TUBA3D +OMIM:617878 skos:exactMatch UMLS:C2240133 Unspecified TUBA3D +OMIM:615218 skos:exactMatch UMLS:C1825899 Unspecified LRRC52 +OMIM:615218 skos:exactMatch HGNC:32156 Unspecified LRRC52 +OMIM:615218 skos:exactMatch HGNC_symbol:LRRC52 Unspecified LRRC52 +OMIM:615219 skos:exactMatch UMLS:C3554691 Unspecified hydrocephalus, congenital, 2, with or without brain or eye anomalies +OMIM:603241 skos:exactMatch HGNC:6705 Unspecified LSAMP +OMIM:603241 skos:exactMatch UMLS:C1416924 Unspecified LSAMP +OMIM:603241 skos:exactMatch HGNC_symbol:LSAMP Unspecified LSAMP +OMIM:603240 skos:exactMatch UMLS:C1822741 Unspecified SLC22A18AS +OMIM:603240 skos:exactMatch HGNC_symbol:SLC22A18AS Unspecified SLC22A18AS +OMIM:603240 skos:exactMatch HGNC:10965 Unspecified SLC22A18AS +OMIM:603243 skos:exactMatch UMLS:C1332083 Unspecified AMFR +OMIM:603243 skos:exactMatch HGNC_symbol:AMFR Unspecified AMFR +OMIM:603243 skos:exactMatch HGNC:463 Unspecified AMFR +OMIM:603242 skos:exactMatch UMLS:C1539088 Unspecified CLEC2B +OMIM:603242 skos:exactMatch HGNC:2053 Unspecified CLEC2B +OMIM:603242 skos:exactMatch HGNC_symbol:CLEC2B Unspecified CLEC2B +OMIM:603245 skos:exactMatch HGNC_symbol:NKX2-8 Unspecified NKX2-8 +OMIM:603245 skos:exactMatch UMLS:C1424218 Unspecified NKX2-8 +OMIM:603245 skos:exactMatch HGNC:16364 Unspecified NKX2-8 +OMIM:191030 skos:exactMatch HGNC_symbol:TPM3 Unspecified TPM3 +OMIM:191030 skos:exactMatch HGNC:12012 Unspecified TPM3 +OMIM:191030 skos:exactMatch UMLS:C1420874 Unspecified TPM3 +OMIM:603244 skos:exactMatch UMLS:C1415727 Unspecified HS3ST1 +OMIM:603244 skos:exactMatch HGNC:5194 Unspecified HS3ST1 +OMIM:603244 skos:exactMatch HGNC_symbol:HS3ST1 Unspecified HS3ST1 +OMIM:603225 skos:exactMatch UMLS:C1419495 Unspecified RNU26 +OMIM:603225 skos:exactMatch HGNC_symbol:SNORD26 Unspecified RNU26 +OMIM:603225 skos:exactMatch HGNC:10148 Unspecified RNU26 +OMIM:605888 skos:exactMatch HGNC_symbol:EHD1 Unspecified EHD1 +OMIM:605888 skos:exactMatch UMLS:C1414318 Unspecified EHD1 +OMIM:605888 skos:exactMatch HGNC:3242 Unspecified EHD1 +OMIM:605889 skos:exactMatch HGNC_symbol:PDLIM3 Unspecified PDLIM3 +OMIM:605889 skos:exactMatch UMLS:C1427121 Unspecified PDLIM3 +OMIM:605889 skos:exactMatch HGNC:20767 Unspecified PDLIM3 +OMIM:603224 skos:exactMatch UMLS:C1419494 Unspecified RNU25 +OMIM:603224 skos:exactMatch HGNC:10147 Unspecified RNU25 +OMIM:603224 skos:exactMatch HGNC_symbol:SNORD25 Unspecified RNU25 +OMIM:605886 skos:exactMatch HGNC:2335 Unspecified CR1L +OMIM:605886 skos:exactMatch UMLS:C1413695 Unspecified CR1L +OMIM:605886 skos:exactMatch HGNC_symbol:CR1L Unspecified CR1L +OMIM:603227 skos:exactMatch UMLS:C1419497 Unspecified RNU28 +OMIM:603227 skos:exactMatch HGNC_symbol:SNORD28 Unspecified RNU28 +OMIM:603227 skos:exactMatch HGNC:10150 Unspecified RNU28 +OMIM:603226 skos:exactMatch UMLS:C1419496 Unspecified RNU27 +OMIM:603226 skos:exactMatch HGNC:10149 Unspecified RNU27 +OMIM:603226 skos:exactMatch HGNC_symbol:SNORD27 Unspecified RNU27 +OMIM:603229 skos:exactMatch HGNC:10157 Unspecified RNU30 +OMIM:603229 skos:exactMatch UMLS:C1419504 Unspecified RNU30 +OMIM:603229 skos:exactMatch HGNC_symbol:SNORD30 Unspecified RNU30 +OMIM:603228 skos:exactMatch UMLS:C1822929 Unspecified RNU29 +OMIM:603228 skos:exactMatch HGNC:10151 Unspecified RNU29 +OMIM:603228 skos:exactMatch HGNC_symbol:SNORD29 Unspecified RNU29 +OMIM:617871 skos:exactMatch UMLS:C4693443 Unspecified retinitis pigmentosa 81 +OMIM:617870 skos:exactMatch HGNC:24238 Unspecified CEP350 +OMIM:617870 skos:exactMatch HGNC_symbol:CEP350 Unspecified CEP350 +OMIM:617870 skos:exactMatch UMLS:C1824726 Unspecified CEP350 +OMIM:617873 skos:exactMatch UMLS:C4693466 Unspecified combined oxidative phosphorylation deficiency 35 +OMIM:615210 skos:exactMatch HGNC:30023 Unspecified PCNP +OMIM:615210 skos:exactMatch HGNC_symbol:PCNP Unspecified PCNP +OMIM:615210 skos:exactMatch UMLS:C1826551 Unspecified PCNP +OMIM:615211 skos:exactMatch HGNC_symbol:UHRF2 Unspecified UHRF2 +OMIM:615211 skos:exactMatch HGNC:12557 Unspecified UHRF2 +OMIM:615211 skos:exactMatch UMLS:C1421349 Unspecified UHRF2 +OMIM:617872 skos:exactMatch UMLS:C4693450 Unspecified combined oxidative phosphorylation deficiency 34 +OMIM:615212 skos:exactMatch UMLS:C1825885 Unspecified LRRC38 +OMIM:615212 skos:exactMatch HGNC:27005 Unspecified LRRC38 +OMIM:615212 skos:exactMatch HGNC_symbol:LRRC38 Unspecified LRRC38 +OMIM:617875 skos:exactMatch UMLS:C4693479 Unspecified polycystic liver disease 4 with or without kidney cysts +OMIM:615213 skos:exactMatch UMLS:C1825900 Unspecified LRRC55 +OMIM:615213 skos:exactMatch HGNC:32324 Unspecified LRRC55 +OMIM:615213 skos:exactMatch HGNC_symbol:LRRC55 Unspecified LRRC55 +OMIM:617874 skos:exactMatch UMLS:C4693472 Unspecified polycystic liver disease 3 with or without kidney cysts +OMIM:615203 skos:exactMatch UMLS:C1826823 Unspecified RHBDD2 +OMIM:615203 skos:exactMatch HGNC_symbol:RHBDD2 Unspecified RHBDD2 +OMIM:615203 skos:exactMatch HGNC:23082 Unspecified RHBDD2 +OMIM:617866 skos:exactMatch UMLS:C4693420 Unspecified short-rib thoracic dysplasia 18 with polydactyly +OMIM:615204 skos:exactMatch HGNC_symbol:ATP5MK Unspecified ATP5MD +OMIM:615204 skos:exactMatch HGNC:30889 Unspecified ATP5MD +OMIM:615204 skos:exactMatch UMLS:C1429011 Unspecified ATP5MD +OMIM:617865 skos:exactMatch UMLS:C4693405 Unspecified neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features +OMIM:617868 skos:exactMatch HGNC:25126 Unspecified NAF1 +OMIM:617868 skos:exactMatch UMLS:C2239772 Unspecified NAF1 +OMIM:617868 skos:exactMatch HGNC_symbol:NAF1 Unspecified NAF1 +OMIM:615205 skos:exactMatch HGNC:27200 Unspecified SPINK13 +OMIM:615205 skos:exactMatch HGNC_symbol:SPINK13 Unspecified SPINK13 +OMIM:615205 skos:exactMatch UMLS:C2828722 Unspecified SPINK13 +OMIM:615206 skos:exactMatch UMLS:C3554686 Unspecified immunodeficiency 11 +OMIM:617867 skos:exactMatch HGNC:16842 Unspecified TP53I11 +OMIM:617867 skos:exactMatch UMLS:C1424588 Unspecified TP53I11 +OMIM:617867 skos:exactMatch HGNC_symbol:TP53I11 Unspecified TP53I11 +OMIM:615207 skos:exactMatch UMLS:C3554687 Unspecified immunodeficiency 56 +OMIM:617869 skos:exactMatch UMLS:C1826427 Unspecified NKX1-1 +OMIM:617869 skos:exactMatch HGNC:24975 Unspecified NKX1-1 +OMIM:617869 skos:exactMatch HGNC_symbol:NKX1-1 Unspecified NKX1-1 +OMIM:615208 skos:exactMatch UMLS:C1427114 Unspecified PLEKHF2 +OMIM:615208 skos:exactMatch HGNC:20757 Unspecified PLEKHF2 +OMIM:615208 skos:exactMatch HGNC_symbol:PLEKHF2 Unspecified PLEKHF2 +OMIM:276410 skos:exactMatch UMLS:C1321860 Unspecified twinning, monozygotic +OMIM:615209 skos:exactMatch HGNC_symbol:MIR149 Unspecified MIR149 +OMIM:615209 skos:exactMatch UMLS:C1537804 Unspecified MIR149 +OMIM:615209 skos:exactMatch HGNC:31536 Unspecified MIR149 +OMIM:605891 skos:exactMatch HGNC:3244 Unspecified EHD3 +OMIM:605891 skos:exactMatch HGNC_symbol:EHD3 Unspecified EHD3 +OMIM:605891 skos:exactMatch UMLS:C1414320 Unspecified EHD3 +OMIM:605892 skos:exactMatch HGNC:3245 Unspecified EHD4 +OMIM:605892 skos:exactMatch HGNC_symbol:EHD4 Unspecified EHD4 +OMIM:605892 skos:exactMatch UMLS:C1414321 Unspecified EHD4 +OMIM:603230 skos:exactMatch UMLS:C1419505 Unspecified RNU31 +OMIM:603230 skos:exactMatch HGNC_symbol:SNORD31 Unspecified RNU31 +OMIM:603230 skos:exactMatch HGNC:10158 Unspecified RNU31 +OMIM:191000 skos:exactMatch UMLS:C1860773 Unspecified trochlea of the humerus, aplasia of +OMIM:605890 skos:exactMatch HGNC:3243 Unspecified EHD2 +OMIM:605890 skos:exactMatch HGNC_symbol:EHD2 Unspecified EHD2 +OMIM:605890 skos:exactMatch UMLS:C1414319 Unspecified EHD2 +OMIM:605895 skos:exactMatch HGNC_symbol:EIF4E2 Unspecified EIF4E2 +OMIM:605895 skos:exactMatch UMLS:C1539346 Unspecified EIF4E2 +OMIM:605895 skos:exactMatch HGNC:3293 Unspecified EIF4E2 +OMIM:603232 skos:exactMatch HGNC:8194 Unspecified OR1F1 +OMIM:603232 skos:exactMatch HGNC_symbol:OR1F1 Unspecified OR1F1 +OMIM:603232 skos:exactMatch UMLS:C1417995 Unspecified OR1F1 +OMIM:605896 skos:exactMatch UMLS:C1414245 Unspecified ECEL1 +OMIM:605896 skos:exactMatch HGNC:3147 Unspecified ECEL1 +OMIM:605896 skos:exactMatch HGNC_symbol:ECEL1 Unspecified ECEL1 +OMIM:603231 skos:exactMatch HGNC:12993 Unspecified ZNF200 +OMIM:603231 skos:exactMatch UMLS:C1421690 Unspecified ZNF200 +OMIM:603231 skos:exactMatch HGNC_symbol:ZNF200 Unspecified ZNF200 +OMIM:603234 skos:exactMatch HGNC:57 Unspecified ABCC6 +OMIM:603234 skos:exactMatch UMLS:C1412081 Unspecified ABCC6 +OMIM:603234 skos:exactMatch HGNC_symbol:ABCC6 Unspecified ABCC6 +OMIM:605893 skos:exactMatch UMLS:C1413284 Unspecified CDIPT +OMIM:605893 skos:exactMatch HGNC:1769 Unspecified CDIPT +OMIM:605893 skos:exactMatch HGNC_symbol:CDIPT Unspecified CDIPT +OMIM:603233 skos:exactMatch UMLS:C1864100 Unspecified pseudohypoparathyroidism, iia 1b +OMIM:605894 skos:exactMatch UMLS:C1825039 Unspecified EID1 +OMIM:605894 skos:exactMatch HGNC:1191 Unspecified EID1 +OMIM:605894 skos:exactMatch HGNC_symbol:EID1 Unspecified EID1 +OMIM:605877 skos:exactMatch HGNC:18508 Unspecified FCRL5 +OMIM:605877 skos:exactMatch UMLS:C1539515 Unspecified FCRL5 +OMIM:605877 skos:exactMatch HGNC_symbol:FCRL5 Unspecified FCRL5 +OMIM:603214 skos:exactMatch HGNC_symbol:ABCD4 Unspecified ABCD4 +OMIM:603214 skos:exactMatch HGNC:68 Unspecified ABCD4 +OMIM:603214 skos:exactMatch UMLS:C1412091 Unspecified ABCD4 +OMIM:605878 skos:exactMatch HGNC:18078 Unspecified ZBTB7A +OMIM:605878 skos:exactMatch HGNC_symbol:ZBTB7A Unspecified ZBTB7A +OMIM:605878 skos:exactMatch UMLS:C1538143 Unspecified ZBTB7A +OMIM:603213 skos:exactMatch UMLS:C1416696 Unspecified KIF22 +OMIM:603213 skos:exactMatch HGNC_symbol:KIF22 Unspecified KIF22 +OMIM:603213 skos:exactMatch HGNC:6391 Unspecified KIF22 +OMIM:603216 skos:exactMatch HGNC_symbol:NAPG Unspecified NAPG +OMIM:603216 skos:exactMatch UMLS:C1417600 Unspecified NAPG +OMIM:603216 skos:exactMatch HGNC:7642 Unspecified NAPG +OMIM:605875 skos:exactMatch HGNC_symbol:WASF2 Unspecified WASF2 +OMIM:605875 skos:exactMatch HGNC:12733 Unspecified WASF2 +OMIM:605875 skos:exactMatch UMLS:C1421480 Unspecified WASF2 +OMIM:605876 skos:exactMatch HGNC:18507 Unspecified FCRL4 +OMIM:605876 skos:exactMatch UMLS:C1539514 Unspecified FCRL4 +OMIM:605876 skos:exactMatch HGNC_symbol:FCRL4 Unspecified FCRL4 +OMIM:603215 skos:exactMatch UMLS:C1417599 Unspecified NAPA +OMIM:603215 skos:exactMatch HGNC:7641 Unspecified NAPA +OMIM:603215 skos:exactMatch HGNC_symbol:NAPA Unspecified NAPA +OMIM:603218 skos:exactMatch UMLS:C1864112 Unspecified huntington disease-like 1 +OMIM:603217 skos:exactMatch HGNC:11442 Unspecified STX7 +OMIM:603217 skos:exactMatch UMLS:C1420504 Unspecified STX7 +OMIM:603217 skos:exactMatch HGNC_symbol:STX7 Unspecified STX7 +OMIM:264420 skos:exactMatch UMLS:C1849694 Unspecified fundus dystrophy, pseudoinflammatory, recessive form +OMIM:605879 skos:exactMatch UMLS:C1416609 Unspecified KCNN2 +OMIM:605879 skos:exactMatch HGNC_symbol:KCNN2 Unspecified KCNN2 +OMIM:605879 skos:exactMatch HGNC:6291 Unspecified KCNN2 +OMIM:603219 skos:exactMatch UMLS:C1416595 Unspecified KCNK2 +OMIM:603219 skos:exactMatch HGNC_symbol:KCNK2 Unspecified KCNK2 +OMIM:603219 skos:exactMatch HGNC:6277 Unspecified KCNK2 +OMIM:617860 skos:exactMatch HGNC_symbol:SFTA3 Unspecified SFTA3 +OMIM:617860 skos:exactMatch UMLS:C2680374 Unspecified SFTA3 +OMIM:617860 skos:exactMatch HGNC:18387 Unspecified SFTA3 +OMIM:617862 skos:exactMatch UMLS:C4693390 Unspecified neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy +OMIM:615200 skos:exactMatch UMLS:C1427120 Unspecified PLEKHF1 +OMIM:615200 skos:exactMatch HGNC:20764 Unspecified PLEKHF1 +OMIM:615200 skos:exactMatch HGNC_symbol:PLEKHF1 Unspecified PLEKHF1 +OMIM:617861 skos:exactMatch HGNC:20178 Unspecified MYPOP +OMIM:617861 skos:exactMatch HGNC_symbol:MYPOP Unspecified MYPOP +OMIM:617861 skos:exactMatch UMLS:C2681857 Unspecified MYPOP +OMIM:615201 skos:exactMatch UMLS:C2681815 Unspecified MIR1909 +OMIM:615201 skos:exactMatch HGNC_symbol:MIR1909 Unspecified MIR1909 +OMIM:615201 skos:exactMatch HGNC:35393 Unspecified MIR1909 +OMIM:617864 skos:exactMatch UMLS:C4693391 Unspecified neurodevelopmental disorder with or without seizures and gait abnormalities +OMIM:615202 skos:exactMatch HGNC_symbol:MIR1915 Unspecified MIR1915 +OMIM:615202 skos:exactMatch UMLS:C2681821 Unspecified MIR1915 +OMIM:615202 skos:exactMatch HGNC:35399 Unspecified MIR1915 +OMIM:617855 skos:exactMatch HGNC:26475 Unspecified BMT2 +OMIM:617855 skos:exactMatch HGNC_symbol:BMT2 Unspecified BMT2 +OMIM:617855 skos:exactMatch UMLS:C2681245 Unspecified BMT2 +OMIM:617854 skos:exactMatch UMLS:C4693389 Unspecified intellectual developmental disorder, autosomal dominant 56 +OMIM:617857 skos:exactMatch HGNC:9564 Unspecified PSMD6 +OMIM:617857 skos:exactMatch UMLS:C1419037 Unspecified PSMD6 +OMIM:617857 skos:exactMatch HGNC_symbol:PSMD6 Unspecified PSMD6 +OMIM:617856 skos:exactMatch HGNC_symbol:THEMIS2 Unspecified THEMIS2 +OMIM:617856 skos:exactMatch HGNC:16839 Unspecified THEMIS2 +OMIM:617856 skos:exactMatch UMLS:C1424586 Unspecified THEMIS2 +OMIM:617859 skos:exactMatch HGNC_symbol:DLGAP5 Unspecified DLGAP5 +OMIM:617859 skos:exactMatch HGNC:16864 Unspecified DLGAP5 +OMIM:617859 skos:exactMatch UMLS:C1424603 Unspecified DLGAP5 +OMIM:617858 skos:exactMatch HGNC_symbol:PSMF1 Unspecified PSMF1 +OMIM:617858 skos:exactMatch HGNC:9571 Unspecified PSMF1 +OMIM:617858 skos:exactMatch UMLS:C1419044 Unspecified PSMF1 +OMIM:605880 skos:exactMatch UMLS:C1425003 Unspecified KAT6B +OMIM:605880 skos:exactMatch UMLS:C1863557 Unspecified KAT6B +OMIM:605880 skos:exactMatch HGNC_symbol:KAT6B Unspecified KAT6B +OMIM:605880 skos:exactMatch HGNC:17582 Unspecified KAT6B +OMIM:605880 skos:exactMatch UMLS:C1853566 Unspecified KAT6B +OMIM:605881 skos:exactMatch UMLS:C1426768 Unspecified SLC35C1 +OMIM:605881 skos:exactMatch HGNC_symbol:SLC35C1 Unspecified SLC35C1 +OMIM:605881 skos:exactMatch HGNC:20197 Unspecified SLC35C1 +OMIM:276400 skos:exactMatch UMLS:C0220761 Unspecified twinning, dizygotic +OMIM:276400 skos:exactMatch UMLS:C1848715 Unspecified twinning, dizygotic +OMIM:605884 skos:exactMatch UMLS:C1414093 Unspecified DNAH10 +OMIM:605884 skos:exactMatch HGNC:2941 Unspecified DNAH10 +OMIM:605884 skos:exactMatch HGNC_symbol:DNAH10 Unspecified DNAH10 +OMIM:603221 skos:exactMatch UMLS:C1864111 Unspecified myopia 3, autosomal dominant +OMIM:191010 skos:exactMatch UMLS:C1420872 Unspecified TPM1 +OMIM:191010 skos:exactMatch HGNC:12010 Unspecified TPM1 +OMIM:191010 skos:exactMatch HGNC_symbol:TPM1 Unspecified TPM1 +OMIM:605885 skos:exactMatch HGNC_symbol:SEMA6A Unspecified SEMA6A +OMIM:605885 skos:exactMatch UMLS:C1419956 Unspecified SEMA6A +OMIM:605885 skos:exactMatch HGNC:10738 Unspecified SEMA6A +OMIM:603220 skos:exactMatch HGNC_symbol:KCNK3 Unspecified KCNK3 +OMIM:603220 skos:exactMatch HGNC:6278 Unspecified KCNK3 +OMIM:603220 skos:exactMatch UMLS:C3809198 Unspecified KCNK3 +OMIM:603220 skos:exactMatch UMLS:C1416596 Unspecified KCNK3 +OMIM:605882 skos:exactMatch HGNC:20473 Unspecified BRIP1 +OMIM:605882 skos:exactMatch UMLS:C1426958 Unspecified BRIP1 +OMIM:605882 skos:exactMatch HGNC_symbol:BRIP1 Unspecified BRIP1 +OMIM:193670 skos:exactMatch UMLS:C0472817 Unspecified whim syndrome 1 +OMIM:603223 skos:exactMatch UMLS:C1419492 Unspecified RNU22 +OMIM:603223 skos:exactMatch HGNC_symbol:SNORD22 Unspecified RNU22 +OMIM:603223 skos:exactMatch HGNC:10145 Unspecified RNU22 +OMIM:605883 skos:exactMatch UMLS:C1366486 Unspecified LAMP3 +OMIM:605883 skos:exactMatch HGNC:14582 Unspecified LAMP3 +OMIM:605883 skos:exactMatch HGNC_symbol:LAMP3 Unspecified LAMP3 +OMIM:603222 skos:exactMatch HGNC_symbol:SNHG1 Unspecified None +OMIM:603222 skos:exactMatch HGNC:32688 Unspecified None +OMIM:603222 skos:exactMatch UMLS:C1822798 Unspecified None +OMIM:242860 skos:exactMatch UMLS:C4551557 Unspecified immunodeficiency-centromeric instability-facial anomalies syndrome 1 +OMIM:242860 skos:exactMatch UMLS:C0398788 Unspecified immunodeficiency-centromeric instability-facial anomalies syndrome 1 +OMIM:615390 skos:exactMatch UMLS:C3809337 Unspecified vesicoureteral reflux 7 +OMIM:615391 skos:exactMatch UMLS:C3809338 Unspecified IDI2AS1 +OMIM:615391 skos:exactMatch HGNC_symbol:IDI2-AS1 Unspecified IDI2AS1 +OMIM:615391 skos:exactMatch HGNC:30885 Unspecified IDI2AS1 +OMIM:615392 skos:exactMatch HGNC:20256 Unspecified SFMBT2 +OMIM:615392 skos:exactMatch UMLS:C1426813 Unspecified SFMBT2 +OMIM:615392 skos:exactMatch HGNC_symbol:SFMBT2 Unspecified SFMBT2 +OMIM:615393 skos:exactMatch HGNC_symbol:MTERF4 Unspecified MTERF4 +OMIM:615393 skos:exactMatch UMLS:C1826318 Unspecified MTERF4 +OMIM:615393 skos:exactMatch HGNC:28785 Unspecified MTERF4 +OMIM:615394 skos:exactMatch UMLS:C1538491 Unspecified NSUN4 +OMIM:615394 skos:exactMatch HGNC_symbol:NSUN4 Unspecified NSUN4 +OMIM:615394 skos:exactMatch HGNC:31802 Unspecified NSUN4 +OMIM:615395 skos:exactMatch UMLS:C3809339 Unspecified combined oxidative phosphorylation deficiency 16 +OMIM:615396 skos:exactMatch UMLS:C3809346 Unspecified left ventricular noncompaction 10 +OMIM:615396 skos:exactMatch UMLS:C3715165 Unspecified left ventricular noncompaction 10 +OMIM:615397 skos:exactMatch UMLS:C3809352 Unspecified meckel syndrome, iia 11 +OMIM:240200 skos:exactMatch UMLS:C1868690 Unspecified hypoadrenocorticism, familial +OMIM:615398 skos:exactMatch UMLS:C3809356 Unspecified multiple congenital anomalies-hypotonia-seizures syndrome 3 +OMIM:615399 skos:exactMatch UMLS:C3809369 Unspecified paroxysmal nocturnal hemoglobinuria 2 +OMIM:215250 skos:exactMatch UMLS:C1859104 Unspecified chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome +OMIM:242870 skos:exactMatch UMLS:C1855762 Unspecified immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes +OMIM:239200 skos:exactMatch UMLS:C1832615 Unspecified hyperparathyroidism, neonatal severe +OMIM:615380 skos:exactMatch UMLS:C3809313 Unspecified AREL1 +OMIM:615380 skos:exactMatch HGNC_symbol:AREL1 Unspecified AREL1 +OMIM:615380 skos:exactMatch HGNC:20363 Unspecified AREL1 +OMIM:615381 skos:exactMatch UMLS:C3715192 Unspecified mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome +OMIM:615382 skos:exactMatch UMLS:C3809320 Unspecified nephronophthisis 16 +OMIM:615383 skos:exactMatch UMLS:C1421923 Unspecified FIGNL1 +OMIM:615383 skos:exactMatch HGNC_symbol:FIGNL1 Unspecified FIGNL1 +OMIM:615383 skos:exactMatch HGNC:13286 Unspecified FIGNL1 +OMIM:615384 skos:exactMatch HGNC_symbol:SPIDR Unspecified SPIDR +OMIM:615384 skos:exactMatch UMLS:C3809326 Unspecified SPIDR +OMIM:615384 skos:exactMatch HGNC:28971 Unspecified SPIDR +OMIM:615385 skos:exactMatch UMLS:C1826038 Unspecified MIR485 +OMIM:615385 skos:exactMatch HGNC_symbol:MIR485 Unspecified MIR485 +OMIM:615385 skos:exactMatch HGNC:32067 Unspecified MIR485 +OMIM:615386 skos:exactMatch UMLS:C3809327 Unspecified spinocerebellar ataxia, autosomal recessive 14 +OMIM:615387 skos:exactMatch UMLS:C3809332 Unspecified immunodeficiency 7 +OMIM:615388 skos:exactMatch HGNC_symbol:ADAT2 Unspecified ADAT2 +OMIM:615388 skos:exactMatch HGNC:21172 Unspecified ADAT2 +OMIM:615388 skos:exactMatch UMLS:C1427384 Unspecified ADAT2 +OMIM:615389 skos:exactMatch HGNC_symbol:IDI2 Unspecified IDI2 +OMIM:615389 skos:exactMatch HGNC:23487 Unspecified IDI2 +OMIM:615389 skos:exactMatch UMLS:C1428100 Unspecified IDI2 +OMIM:615379 skos:exactMatch HGNC:32906 Unspecified MIR650 +OMIM:615379 skos:exactMatch UMLS:C1826229 Unspecified MIR650 +OMIM:615379 skos:exactMatch HGNC_symbol:MIR650 Unspecified MIR650 +OMIM:227220 skos:exactMatch UMLS:C1856895 Unspecified skin/hair/eye pigmentation, variation in, 1 +OMIM:278800 skos:exactMatch UMLS:C0265201 Unspecified lange sanctis-cacchione syndrome +OMIM:603389 skos:exactMatch UMLS:C1863922 Unspecified osebold skeletal dysplasia/osteolysis syndrome +OMIM:615370 skos:exactMatch HGNC:26724 Unspecified ANKS6 +OMIM:615370 skos:exactMatch HGNC_symbol:ANKS6 Unspecified ANKS6 +OMIM:615370 skos:exactMatch UMLS:C1823697 Unspecified ANKS6 +OMIM:615371 skos:exactMatch UMLS:C3714958 Unspecified pulmonary hypertension, neonatal, susceptibility to +OMIM:615372 skos:exactMatch HGNC:38258 Unspecified MIR1260B +OMIM:615372 skos:exactMatch UMLS:C2829687 Unspecified MIR1260B +OMIM:615372 skos:exactMatch HGNC_symbol:MIR1260B Unspecified MIR1260B +OMIM:266810 skos:exactMatch UMLS:C1849439 Unspecified renal and mullerian duct hypoplasia +OMIM:615373 skos:exactMatch UMLS:C3809288 Unspecified left ventricular noncompaction 8 +OMIM:615373 skos:exactMatch UMLS:C3809289 Unspecified left ventricular noncompaction 8 +OMIM:615374 skos:exactMatch UMLS:C3809299 Unspecified cone-rod dystrophy 18 +OMIM:242840 skos:exactMatch UMLS:C1855772 Unspecified vici syndrome +OMIM:615375 skos:exactMatch HGNC_symbol:IRAK1BP1 Unspecified IRAK1BP1 +OMIM:615375 skos:exactMatch UMLS:C1424940 Unspecified IRAK1BP1 +OMIM:615375 skos:exactMatch HGNC:17368 Unspecified IRAK1BP1 +OMIM:615376 skos:exactMatch UMLS:C3809309 Unspecified charcot-marie-tooth disease, recessive intermediate c +OMIM:615377 skos:exactMatch UMLS:C3809311 Unspecified atrial fibrillation, familial, 13 +OMIM:615378 skos:exactMatch UMLS:C3809312 Unspecified atrial fibrillation, familial, 14 +OMIM:227250 skos:exactMatch UMLS:C1856893 Unspecified facial abnormalities, kyphoscoliosis, and mental retardation +OMIM:615368 skos:exactMatch ORPHA:363409 Unspecified lethal congenital contracture syndrome 5 +OMIM:615368 skos:exactMatch UMLS:C3809272 Unspecified lethal congenital contracture syndrome 5 +OMIM:615369 skos:exactMatch ORPHA:2382 Unspecified developmental and epileptic encephalopathy 94 +OMIM:615369 skos:exactMatch ORPHA:1942 Unspecified developmental and epileptic encephalopathy 94 +OMIM:615369 skos:exactMatch UMLS:C3809278 Unspecified developmental and epileptic encephalopathy 94 +OMIM:603390 skos:exactMatch UMLS:C1418434 Unspecified PDE8B +OMIM:603390 skos:exactMatch HGNC_symbol:PDE8B Unspecified PDE8B +OMIM:603390 skos:exactMatch HGNC:8794 Unspecified PDE8B +OMIM:603393 skos:exactMatch UMLS:C1863920 Unspecified osteosclerotic chondrodysplasia, lethal, with intracellular inclusions +OMIM:603392 skos:exactMatch UMLS:C1332411 Unspecified BIK +OMIM:603392 skos:exactMatch HGNC:1051 Unspecified BIK +OMIM:603392 skos:exactMatch HGNC_symbol:BIK Unspecified BIK +OMIM:603395 skos:exactMatch HGNC_symbol:SPAG1 Unspecified SPAG1 +OMIM:603395 skos:exactMatch HGNC:11212 Unspecified SPAG1 +OMIM:603395 skos:exactMatch UMLS:C1420337 Unspecified SPAG1 +OMIM:603394 skos:exactMatch UMLS:C1863919 Unspecified microcephaly, severe, with skeletal anomalies including posterior rib-gap defects +OMIM:603397 skos:exactMatch HGNC:13076 Unspecified ZNF282 +OMIM:603397 skos:exactMatch UMLS:C1421768 Unspecified ZNF282 +OMIM:603397 skos:exactMatch HGNC_symbol:ZNF282 Unspecified ZNF282 +OMIM:603396 skos:exactMatch UMLS:C1863918 Unspecified tonoki syndrome +OMIM:603399 skos:exactMatch HGNC:12770 Unspecified CCN5 +OMIM:603399 skos:exactMatch UMLS:C1421508 Unspecified CCN5 +OMIM:603399 skos:exactMatch HGNC_symbol:CCN5 Unspecified CCN5 +OMIM:603398 skos:exactMatch UMLS:C1336990 Unspecified CCN4 +OMIM:603398 skos:exactMatch HGNC:12769 Unspecified CCN4 +OMIM:603398 skos:exactMatch HGNC_symbol:CCN4 Unspecified CCN4 +OMIM:603379 skos:exactMatch HGNC:6110 Unspecified IQGAP1 +OMIM:603379 skos:exactMatch HGNC_symbol:IQGAP1 Unspecified IQGAP1 +OMIM:603379 skos:exactMatch UMLS:C1416471 Unspecified IQGAP1 +OMIM:603378 skos:exactMatch UMLS:C1419814 Unspecified SAP30 +OMIM:603378 skos:exactMatch HGNC_symbol:SAP30 Unspecified SAP30 +OMIM:603378 skos:exactMatch HGNC:10532 Unspecified SAP30 +OMIM:615360 skos:exactMatch UMLS:C3715164 Unspecified leber congenital amaurosis 17 +OMIM:615361 skos:exactMatch UMLS:C3809243 Unspecified hypocalcemia, autosomal dominant 2 +OMIM:615362 skos:exactMatch UMLS:C3715049 Unspecified ceroid lipofuscinosis, neuronal, 13 (kufs type) +OMIM:615363 skos:exactMatch UMLS:C3809250 Unspecified estrogen resistance +OMIM:615364 skos:exactMatch UMLS:C1426676 Unspecified AK7 +OMIM:615364 skos:exactMatch HGNC_symbol:AK7 Unspecified AK7 +OMIM:615364 skos:exactMatch HGNC:20091 Unspecified AK7 +OMIM:242850 skos:exactMatch UMLS:C1855771 Unspecified immune deficiency disease +OMIM:615365 skos:exactMatch HGNC:26526 Unspecified AK8 +OMIM:615365 skos:exactMatch HGNC_symbol:AK8 Unspecified AK8 +OMIM:615365 skos:exactMatch UMLS:C1428600 Unspecified AK8 +OMIM:615366 skos:exactMatch HGNC_symbol:NOL11 Unspecified NOL11 +OMIM:615366 skos:exactMatch HGNC:24557 Unspecified NOL11 +OMIM:615366 skos:exactMatch UMLS:C1826452 Unspecified NOL11 +OMIM:615367 skos:exactMatch HGNC:29909 Unspecified NTAN1 +OMIM:615367 skos:exactMatch HGNC_symbol:NTAN1 Unspecified NTAN1 +OMIM:615367 skos:exactMatch UMLS:C1538494 Unspecified NTAN1 +OMIM:615357 skos:exactMatch UMLS:C1825857 Unspecified B3GNT8 +OMIM:615357 skos:exactMatch HGNC_symbol:B3GNT8 Unspecified B3GNT8 +OMIM:615357 skos:exactMatch HGNC:24139 Unspecified B3GNT8 +OMIM:615358 skos:exactMatch HGNC_symbol:AK9 Unspecified AK9 +OMIM:615358 skos:exactMatch HGNC:33814 Unspecified AK9 +OMIM:615358 skos:exactMatch UMLS:C2681904 Unspecified AK9 +OMIM:615359 skos:exactMatch HGNC_symbol:MIOS Unspecified MIOS +OMIM:615359 skos:exactMatch HGNC:21905 Unspecified MIOS +OMIM:615359 skos:exactMatch UMLS:C2681663 Unspecified MIOS +OMIM:203290 skos:exactMatch UMLS:C0342683 Unspecified albinism, oculocutaneous, iia 3 +OMIM:603380 skos:exactMatch HGNC_symbol:LIN7A Unspecified LIN7A +OMIM:603380 skos:exactMatch HGNC:17787 Unspecified LIN7A +OMIM:603380 skos:exactMatch UMLS:C1425075 Unspecified LIN7A +OMIM:227240 skos:exactMatch UMLS:C2673584 Unspecified skin/hair/eye pigmentation, variation in, 5 +OMIM:603382 skos:exactMatch HGNC:7328 Unspecified MSH5 +OMIM:603382 skos:exactMatch UMLS:C1417334 Unspecified MSH5 +OMIM:603382 skos:exactMatch HGNC_symbol:MSH5 Unspecified MSH5 +OMIM:603381 skos:exactMatch HGNC_symbol:FLNB Unspecified FLNB +OMIM:603381 skos:exactMatch HGNC:3755 Unspecified FLNB +OMIM:603381 skos:exactMatch UMLS:C1414636 Unspecified FLNB +OMIM:603384 skos:exactMatch HGNC:11497 Unspecified SYNGAP1 +OMIM:603384 skos:exactMatch HGNC_symbol:SYNGAP1 Unspecified SYNGAP1 +OMIM:603384 skos:exactMatch UMLS:C1420546 Unspecified SYNGAP1 +OMIM:603383 skos:exactMatch UMLS:C1863926 Unspecified glaucoma 1, open angle, f +OMIM:603386 skos:exactMatch UMLS:C1863925 Unspecified thyroid carcinoma, nonmedullary, with or without cell oxyphilia +OMIM:603385 skos:exactMatch UMLS:C1412487 Unspecified NAE1 +OMIM:603385 skos:exactMatch HGNC_symbol:NAE1 Unspecified NAE1 +OMIM:603385 skos:exactMatch HGNC:621 Unspecified NAE1 +OMIM:603388 skos:exactMatch UMLS:C1863923 Unspecified graves disease, susceptibility to, 2 +OMIM:603387 skos:exactMatch UMLS:C1863924 Unspecified megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +OMIM:603387 skos:exactMatch UMLS:C4012727 Unspecified megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +OMIM:229850 skos:exactMatch UMLS:C0220730 Unspecified fryns syndrome +OMIM:313700 skos:exactMatch HGNC:644 Unspecified AR +OMIM:313700 skos:exactMatch HGNC_symbol:AR Unspecified AR +OMIM:313700 skos:exactMatch UMLS:C1367578 Unspecified AR +OMIM:254800 skos:exactMatch ORPHA:308 Unspecified myoclonic epilepsy of unverricht and lundborg +OMIM:254800 skos:exactMatch UMLS:C0751785 Unspecified myoclonic epilepsy of unverricht and lundborg +OMIM:301700 skos:exactMatch UMLS:C0393778 Unspecified anosmia, isolated congenital, X-linked +OMIM:227210 skos:exactMatch UMLS:C1856896 Unspecified eyebrows, duplication of, with stretchable skin and syndactyly +OMIM:229800 skos:exactMatch UMLS:C0268160 Unspecified fructosuria, essential +OMIM:120360 skos:exactMatch HGNC_symbol:MMP2 Unspecified MMP2 +OMIM:120360 skos:exactMatch HGNC:7166 Unspecified MMP2 +OMIM:120360 skos:exactMatch UMLS:C1850155 Unspecified MMP2 +OMIM:120360 skos:exactMatch UMLS:C1334522 Unspecified MMP2 +OMIM:120361 skos:exactMatch HGNC_symbol:MMP9 Unspecified MMP9 +OMIM:120361 skos:exactMatch HGNC:7176 Unspecified MMP9 +OMIM:120361 skos:exactMatch UMLS:C1334523 Unspecified MMP9 +OMIM:203200 skos:exactMatch UMLS:C0268497 Unspecified albinism, oculocutaneous, iia 2 +OMIM:203200 skos:exactMatch UMLS:C0268495 Unspecified albinism, oculocutaneous, iia 2 +OMIM:120353 skos:exactMatch UMLS:C1417199 Unspecified MMP1 +OMIM:120353 skos:exactMatch HGNC_symbol:MMP1 Unspecified MMP1 +OMIM:120353 skos:exactMatch HGNC:7155 Unspecified MMP1 +OMIM:120350 skos:exactMatch HGNC_symbol:COL13A1 Unspecified COL13A1 +OMIM:120350 skos:exactMatch HGNC:2190 Unspecified COL13A1 +OMIM:120350 skos:exactMatch UMLS:C1413573 Unspecified COL13A1 +OMIM:230800 skos:exactMatch UMLS:C1961835 Unspecified gaucher disease, iia 1 +OMIM:230800 skos:exactMatch ORPHA:77259 Unspecified gaucher disease, iia 1 +OMIM:230800 skos:exactMatch ORPHA:355 Unspecified gaucher disease, iia 1 +OMIM:120355 skos:exactMatch HGNC:7175 Unspecified MMP8 +OMIM:120355 skos:exactMatch UMLS:C1417213 Unspecified MMP8 +OMIM:120355 skos:exactMatch HGNC_symbol:MMP8 Unspecified MMP8 +OMIM:120340 skos:exactMatch HGNC_symbol:COL1AR Unspecified COL1AR +OMIM:120340 skos:exactMatch HGNC:2199 Unspecified COL1AR +OMIM:120340 skos:exactMatch UMLS:C1413579 Unspecified COL1AR +OMIM:120330 skos:exactMatch UMLS:C1852759 Unspecified papillorenal syndrome +OMIM:120320 skos:exactMatch UMLS:C1413572 Unspecified COL12A1 +OMIM:120320 skos:exactMatch HGNC_symbol:COL12A1 Unspecified COL12A1 +OMIM:120320 skos:exactMatch HGNC:2188 Unspecified COL12A1 +OMIM:120324 skos:exactMatch UMLS:C1413574 Unspecified COL14A1 +OMIM:120324 skos:exactMatch HGNC_symbol:COL14A1 Unspecified COL14A1 +OMIM:120324 skos:exactMatch HGNC:2191 Unspecified COL14A1 +OMIM:120328 skos:exactMatch HGNC:2195 Unspecified COL18A1 +OMIM:120328 skos:exactMatch UMLS:C4551775 Unspecified COL18A1 +OMIM:120328 skos:exactMatch UMLS:C5394374 Unspecified COL18A1 +OMIM:120328 skos:exactMatch HGNC_symbol:COL18A1 Unspecified COL18A1 +OMIM:120328 skos:exactMatch UMLS:C1332771 Unspecified COL18A1 +OMIM:120326 skos:exactMatch UMLS:C1413576 Unspecified COL16A1 +OMIM:120326 skos:exactMatch HGNC_symbol:COL16A1 Unspecified COL16A1 +OMIM:120326 skos:exactMatch HGNC:2193 Unspecified COL16A1 +OMIM:120325 skos:exactMatch UMLS:C1413575 Unspecified COL15A1 +OMIM:120325 skos:exactMatch HGNC_symbol:COL15A1 Unspecified COL15A1 +OMIM:120325 skos:exactMatch HGNC:2192 Unspecified COL15A1 +OMIM:132400 skos:exactMatch UMLS:C1838280 Unspecified epiphyseal dysplasia, multiple, 1 +OMIM:132400 skos:exactMatch UMLS:C1851538 Unspecified epiphyseal dysplasia, multiple, 1 +OMIM:132400 skos:exactMatch UMLS:C1851537 Unspecified epiphyseal dysplasia, multiple, 1 +OMIM:217800 skos:exactMatch UMLS:C1691013 Unspecified macular dystrophy, corneal +OMIM:217800 skos:exactMatch UMLS:C1636149 Unspecified macular dystrophy, corneal +OMIM:605900 skos:exactMatch HGNC:2067 Unspecified PDLIM1 +OMIM:605900 skos:exactMatch HGNC_symbol:PDLIM1 Unspecified PDLIM1 +OMIM:605900 skos:exactMatch UMLS:C1413488 Unspecified PDLIM1 +OMIM:605903 skos:exactMatch HGNC_symbol:PDLIM7 Unspecified PDLIM7 +OMIM:605903 skos:exactMatch HGNC:22958 Unspecified PDLIM7 +OMIM:605903 skos:exactMatch UMLS:C1427812 Unspecified PDLIM7 +OMIM:605904 skos:exactMatch UMLS:C1538613 Unspecified PDLIM5 +OMIM:605904 skos:exactMatch HGNC_symbol:PDLIM5 Unspecified PDLIM5 +OMIM:605904 skos:exactMatch HGNC:17468 Unspecified PDLIM5 +OMIM:107450 skos:exactMatch HGNC:5432 Unspecified IFNAR1 +OMIM:107450 skos:exactMatch UMLS:C1334081 Unspecified IFNAR1 +OMIM:107450 skos:exactMatch HGNC_symbol:IFNAR1 Unspecified IFNAR1 +OMIM:605901 skos:exactMatch HGNC_symbol:UCN3 Unspecified UCN3 +OMIM:605901 skos:exactMatch HGNC:17781 Unspecified UCN3 +OMIM:605901 skos:exactMatch UMLS:C1425074 Unspecified UCN3 +OMIM:605902 skos:exactMatch UMLS:C1540159 Unspecified UCN2 +OMIM:605902 skos:exactMatch HGNC:18414 Unspecified UCN2 +OMIM:605902 skos:exactMatch HGNC_symbol:UCN2 Unspecified UCN2 +OMIM:605907 skos:exactMatch HGNC:18294 Unspecified ALG1 +OMIM:605907 skos:exactMatch UMLS:C2931005 Unspecified ALG1 +OMIM:605907 skos:exactMatch UMLS:C1425428 Unspecified ALG1 +OMIM:605907 skos:exactMatch HGNC_symbol:ALG1 Unspecified ALG1 +OMIM:605908 skos:exactMatch HGNC:17082 Unspecified MLC1 +OMIM:605908 skos:exactMatch HGNC_symbol:MLC1 Unspecified MLC1 +OMIM:605908 skos:exactMatch UMLS:C1424729 Unspecified MLC1 +OMIM:605905 skos:exactMatch HGNC:18184 Unspecified DCUN1D1 +OMIM:605905 skos:exactMatch HGNC_symbol:DCUN1D1 Unspecified DCUN1D1 +OMIM:605905 skos:exactMatch UMLS:C1824894 Unspecified DCUN1D1 +OMIM:605906 skos:exactMatch HGNC_symbol:LDB3 Unspecified LDB3 +OMIM:605906 skos:exactMatch HGNC:15710 Unspecified LDB3 +OMIM:605906 skos:exactMatch UMLS:C1423674 Unspecified LDB3 +OMIM:605909 skos:exactMatch UMLS:C1853833 Unspecified parkinson disease 6, autosomal recessive early-onset +OMIM:605909 skos:exactMatch UMLS:C1970035 Unspecified parkinson disease 6, autosomal recessive early-onset +OMIM:146933 skos:exactMatch UMLS:C1416381 Unspecified IL10RA +OMIM:146933 skos:exactMatch HGNC_symbol:IL10RA Unspecified IL10RA +OMIM:146933 skos:exactMatch HGNC:5964 Unspecified IL10RA +OMIM:146930 skos:exactMatch UMLS:C1366571 Unspecified CXCL8 +OMIM:146930 skos:exactMatch HGNC:6025 Unspecified CXCL8 +OMIM:146930 skos:exactMatch HGNC_symbol:CXCL8 Unspecified CXCL8 +OMIM:146931 skos:exactMatch HGNC_symbol:IL9 Unspecified IL9 +OMIM:146931 skos:exactMatch UMLS:C1334127 Unspecified IL9 +OMIM:146931 skos:exactMatch HGNC:6029 Unspecified IL9 +OMIM:120420 skos:exactMatch HGNC:2432 Unspecified CSF1 +OMIM:120420 skos:exactMatch HGNC_symbol:CSF1 Unspecified CSF1 +OMIM:120420 skos:exactMatch UMLS:C1332789 Unspecified CSF1 +OMIM:132300 skos:exactMatch UMLS:C0278193 Unspecified epilepsy, reading +OMIM:556500 skos:exactMatch UMLS:C1838867 Unspecified parkinson disease, mitochondrial +OMIM:146950 skos:exactMatch UMLS:C1840260 Unspecified immune response to synthetic polypeptide--irhgal +OMIM:120400 skos:exactMatch UMLS:C1852752 Unspecified coloboma of macula with iia B brachydactyly +OMIM:107440 skos:exactMatch UMLS:C1862714 Unspecified antiviral state repressor, regulator of +OMIM:171900 skos:exactMatch HGNC:8905 Unspecified PGM1 +OMIM:171900 skos:exactMatch HGNC_symbol:PGM1 Unspecified PGM1 +OMIM:171900 skos:exactMatch UMLS:C1418516 Unspecified PGM1 +OMIM:144300 skos:exactMatch UMLS:C1840425 Unspecified hyperlipoproteinemia, iia ii, and deafness +OMIM:146960 skos:exactMatch UMLS:C1840259 Unspecified immune response to synthetic polypeptide--irtgal +OMIM:605943 skos:exactMatch HGNC_symbol:GDE1 Unspecified GDE1 +OMIM:605943 skos:exactMatch HGNC:29644 Unspecified GDE1 +OMIM:605943 skos:exactMatch UMLS:C1853828 Unspecified GDE1 +OMIM:605944 skos:exactMatch UMLS:C1853827 Unspecified liver fibrocystic disease and polydactyly +OMIM:605941 skos:exactMatch UMLS:C1419819 Unspecified SART1 +OMIM:605941 skos:exactMatch HGNC:10538 Unspecified SART1 +OMIM:605941 skos:exactMatch HGNC_symbol:SART1 Unspecified SART1 +OMIM:605942 skos:exactMatch HGNC:21144 Unspecified DSE +OMIM:605942 skos:exactMatch UMLS:C1427359 Unspecified DSE +OMIM:605942 skos:exactMatch HGNC_symbol:DSE Unspecified DSE +OMIM:605947 skos:exactMatch HGNC:8966 Unspecified PIGL +OMIM:605947 skos:exactMatch HGNC_symbol:PIGL Unspecified PIGL +OMIM:605947 skos:exactMatch UMLS:C1418567 Unspecified PIGL +OMIM:605948 skos:exactMatch HGNC_symbol:GPRC5B Unspecified GPRC5B +OMIM:605948 skos:exactMatch HGNC:13308 Unspecified GPRC5B +OMIM:605948 skos:exactMatch UMLS:C1421930 Unspecified GPRC5B +OMIM:156300 skos:exactMatch UMLS:C1835008 Unspecified metachromasia of fibroblasts +OMIM:605945 skos:exactMatch UMLS:C1853826 Unspecified crumpled helices and small mouth +OMIM:605946 skos:exactMatch UMLS:C1853825 Unspecified metaphyseal dysplasia, braun-tinschert iia +OMIM:605949 skos:exactMatch HGNC_symbol:GPRC5C Unspecified GPRC5C +OMIM:605949 skos:exactMatch HGNC:13309 Unspecified GPRC5C +OMIM:605949 skos:exactMatch UMLS:C1333697 Unspecified GPRC5C +OMIM:617930 skos:exactMatch UMLS:C4693669 Unspecified chromosome 1p35 deletion syndrome +OMIM:617921 skos:exactMatch UMLS:C4693609 Unspecified amyotrophic lateral sclerosis, susceptibility to, 25 +OMIM:617920 skos:exactMatch UMLS:C4554421 Unspecified amyloidosis, primary localized cutaneous, 3 +OMIM:617920 skos:exactMatch UMLS:C4554601 Unspecified amyloidosis, primary localized cutaneous, 3 +OMIM:617923 skos:exactMatch HGNC_symbol:GYPB Unspecified GYPB +OMIM:617923 skos:exactMatch HGNC:4703 Unspecified GYPB +OMIM:617923 skos:exactMatch UMLS:C1415374 Unspecified GYPB +OMIM:617922 skos:exactMatch HGNC_symbol:GYPA Unspecified GYPA +OMIM:617922 skos:exactMatch HGNC:4702 Unspecified GYPA +OMIM:617922 skos:exactMatch UMLS:C1367455 Unspecified GYPA +OMIM:617925 skos:exactMatch UMLS:C4693616 Unspecified short-rib thoracic dysplasia 20 with polydactyly +OMIM:617924 skos:exactMatch UMLS:C4693613 Unspecified epilepsy, juvenile myoclonic, susceptibility to, 10 +OMIM:146970 skos:exactMatch UMLS:C1416165 Unspecified IGKJ@ +OMIM:617927 skos:exactMatch UMLS:C4693651 Unspecified orofaciodigital syndrome 18 +OMIM:617926 skos:exactMatch UMLS:C4693640 Unspecified orofaciodigital syndrome 17 +OMIM:617929 skos:exactMatch ORPHA:3451 Unspecified developmental and epileptic encephalopathy 60 +OMIM:617929 skos:exactMatch UMLS:C4693663 Unspecified developmental and epileptic encephalopathy 60 +OMIM:617928 skos:exactMatch UMLS:C4693660 Unspecified keratoconus 9 +OMIM:107400 skos:exactMatch HGNC:8941 Unspecified SERPINA1 +OMIM:107400 skos:exactMatch UMLS:C1418544 Unspecified SERPINA1 +OMIM:107400 skos:exactMatch HGNC_symbol:SERPINA1 Unspecified SERPINA1 +OMIM:605950 skos:exactMatch UMLS:C1423958 Unspecified RAB33B +OMIM:605950 skos:exactMatch HGNC:16075 Unspecified RAB33B +OMIM:605950 skos:exactMatch HGNC_symbol:RAB33B Unspecified RAB33B +OMIM:264180 skos:exactMatch ORPHA:85174 Unspecified pseudodiastrophic dysplasia +OMIM:264180 skos:exactMatch UMLS:C0432206 Unspecified pseudodiastrophic dysplasia +OMIM:605951 skos:exactMatch HGNC:3007 Unspecified DPM3 +OMIM:605951 skos:exactMatch UMLS:C2752007 Unspecified DPM3 +OMIM:605951 skos:exactMatch UMLS:C5436552 Unspecified DPM3 +OMIM:605951 skos:exactMatch UMLS:C1414139 Unspecified DPM3 +OMIM:605951 skos:exactMatch HGNC_symbol:DPM3 Unspecified DPM3 +OMIM:605932 skos:exactMatch UMLS:C1412795 Unspecified BHMT2 +OMIM:605932 skos:exactMatch HGNC_symbol:BHMT2 Unspecified BHMT2 +OMIM:605932 skos:exactMatch HGNC:1048 Unspecified BHMT2 +OMIM:605933 skos:exactMatch HGNC_symbol:DCSTAMP Unspecified TM7SF4 +OMIM:605933 skos:exactMatch UMLS:C1539977 Unspecified TM7SF4 +OMIM:605933 skos:exactMatch HGNC:18549 Unspecified TM7SF4 +OMIM:605930 skos:exactMatch HGNC_symbol:SNX3 Unspecified SNX3 +OMIM:605930 skos:exactMatch HGNC:11174 Unspecified SNX3 +OMIM:605930 skos:exactMatch UMLS:C1420302 Unspecified SNX3 +OMIM:605931 skos:exactMatch HGNC_symbol:SNX4 Unspecified SNX4 +OMIM:605931 skos:exactMatch HGNC:11175 Unspecified SNX4 +OMIM:605931 skos:exactMatch UMLS:C1420303 Unspecified SNX4 +OMIM:605936 skos:exactMatch HGNC_symbol:BIN2 Unspecified BIN2 +OMIM:605936 skos:exactMatch UMLS:C1412797 Unspecified BIN2 +OMIM:605936 skos:exactMatch HGNC:1053 Unspecified BIN2 +OMIM:605937 skos:exactMatch HGNC:14969 Unspecified SNX5 +OMIM:605937 skos:exactMatch UMLS:C1423096 Unspecified SNX5 +OMIM:605937 skos:exactMatch HGNC_symbol:SNX5 Unspecified SNX5 +OMIM:605934 skos:exactMatch UMLS:C1853830 Unspecified holoprosencephaly 6 +OMIM:605935 skos:exactMatch UMLS:C1853829 Unspecified arthropathy, erosive +OMIM:605938 skos:exactMatch HGNC_symbol:PIGP Unspecified PIGP +OMIM:605938 skos:exactMatch HGNC:3046 Unspecified PIGP +OMIM:605938 skos:exactMatch UMLS:C1826586 Unspecified PIGP +OMIM:605938 skos:exactMatch UMLS:C4539843 Unspecified PIGP +OMIM:605939 skos:exactMatch HGNC:9062 Unspecified PLCD4 +OMIM:605939 skos:exactMatch HGNC_symbol:PLCD4 Unspecified PLCD4 +OMIM:605939 skos:exactMatch UMLS:C1418637 Unspecified PLCD4 +OMIM:617910 skos:exactMatch HGNC_symbol:LSM11 Unspecified LSM11 +OMIM:617910 skos:exactMatch HGNC:30860 Unspecified LSM11 +OMIM:617910 skos:exactMatch UMLS:C1537621 Unspecified LSM11 +OMIM:146980 skos:exactMatch UMLS:C1416174 Unspecified IGKV@ +OMIM:617912 skos:exactMatch UMLS:C4693563 Unspecified congenital heart defects, multiple types, 5 +OMIM:617911 skos:exactMatch UMLS:C4693556 Unspecified diamond-blackfan anemia-like +OMIM:617914 skos:exactMatch UMLS:C4693572 Unspecified microcephaly 20, primary, autosomal recessive +OMIM:617913 skos:exactMatch UMLS:C4693567 Unspecified neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities +OMIM:617916 skos:exactMatch UMLS:C4693583 Unspecified neurodegeneration with brain iron accumulation 7 +OMIM:617915 skos:exactMatch UMLS:C4693578 Unspecified hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +OMIM:617918 skos:exactMatch HGNC_symbol:STRIP1 Unspecified STRIP1 +OMIM:617918 skos:exactMatch UMLS:C1539430 Unspecified STRIP1 +OMIM:617918 skos:exactMatch HGNC:25916 Unspecified STRIP1 +OMIM:617917 skos:exactMatch UMLS:C4693587 Unspecified neurodegeneration with brain iron accumulation 8 +OMIM:107410 skos:exactMatch HGNC:8985 Unspecified serpin peptidase inhibitor, clade a, member 2, pseudogene +OMIM:107410 skos:exactMatch UMLS:C3888213 Unspecified serpin peptidase inhibitor, clade a, member 2, pseudogene +OMIM:107410 skos:exactMatch HGNC_symbol:SERPINA2 Unspecified serpin peptidase inhibitor, clade a, member 2, pseudogene +OMIM:617919 skos:exactMatch HGNC_symbol:STRIP2 Unspecified STRIP2 +OMIM:617919 skos:exactMatch UMLS:C1539431 Unspecified STRIP2 +OMIM:617919 skos:exactMatch HGNC:22209 Unspecified STRIP2 +OMIM:605940 skos:exactMatch UMLS:C1412739 Unspecified BASP1 +OMIM:605940 skos:exactMatch HGNC_symbol:BASP1 Unspecified BASP1 +OMIM:605940 skos:exactMatch HGNC:957 Unspecified BASP1 +OMIM:605921 skos:exactMatch UMLS:C4011726 Unspecified STIM1 +OMIM:605921 skos:exactMatch HGNC_symbol:STIM1 Unspecified STIM1 +OMIM:605921 skos:exactMatch UMLS:C1335879 Unspecified STIM1 +OMIM:605921 skos:exactMatch UMLS:C1861451 Unspecified STIM1 +OMIM:605921 skos:exactMatch HGNC:11386 Unspecified STIM1 +OMIM:605921 skos:exactMatch UMLS:C2748557 Unspecified STIM1 +OMIM:605922 skos:exactMatch HGNC_symbol:IMPA2 Unspecified IMPA2 +OMIM:605922 skos:exactMatch HGNC:6051 Unspecified IMPA2 +OMIM:605922 skos:exactMatch UMLS:C1416426 Unspecified IMPA2 +OMIM:132350 skos:exactMatch HGNC_symbol:STX2 Unspecified STX2 +OMIM:132350 skos:exactMatch HGNC:3403 Unspecified STX2 +OMIM:132350 skos:exactMatch UMLS:C1823140 Unspecified STX2 +OMIM:605920 skos:exactMatch HGNC_symbol:STAU2 Unspecified STAU2 +OMIM:605920 skos:exactMatch HGNC:11371 Unspecified STAU2 +OMIM:605920 skos:exactMatch UMLS:C1420457 Unspecified STAU2 +OMIM:605925 skos:exactMatch HGNC:16068 Unspecified PCNT +OMIM:605925 skos:exactMatch HGNC_symbol:PCNT Unspecified PCNT +OMIM:605925 skos:exactMatch UMLS:C1826553 Unspecified PCNT +OMIM:605926 skos:exactMatch HGNC:9394 Unspecified PICK1 +OMIM:605926 skos:exactMatch HGNC_symbol:PICK1 Unspecified PICK1 +OMIM:605926 skos:exactMatch UMLS:C1826583 Unspecified PICK1 +OMIM:605923 skos:exactMatch UMLS:C2986382 Unspecified SOX8 +OMIM:605923 skos:exactMatch HGNC_symbol:SOX8 Unspecified SOX8 +OMIM:605923 skos:exactMatch HGNC:11203 Unspecified SOX8 +OMIM:605923 skos:exactMatch UMLS:C1420330 Unspecified SOX8 +OMIM:605924 skos:exactMatch HGNC:12756 Unspecified WDR4 +OMIM:605924 skos:exactMatch HGNC_symbol:WDR4 Unspecified WDR4 +OMIM:605924 skos:exactMatch UMLS:C1421495 Unspecified WDR4 +OMIM:605929 skos:exactMatch UMLS:C1420301 Unspecified SNX2 +OMIM:605929 skos:exactMatch HGNC_symbol:SNX2 Unspecified SNX2 +OMIM:605929 skos:exactMatch HGNC:11173 Unspecified SNX2 +OMIM:605927 skos:exactMatch HGNC_symbol:MTBP Unspecified MDM2BP +OMIM:605927 skos:exactMatch HGNC:7417 Unspecified MDM2BP +OMIM:605927 skos:exactMatch UMLS:C1417411 Unspecified MDM2BP +OMIM:168300 skos:exactMatch UMLS:C1868619 Unspecified paramyotonia congenita of von eulenburg +OMIM:168300 skos:exactMatch UMLS:C0221055 Unspecified paramyotonia congenita of von eulenburg +OMIM:605928 skos:exactMatch HGNC:21496 Unspecified ARFIP1 +OMIM:605928 skos:exactMatch HGNC_symbol:ARFIP1 Unspecified ARFIP1 +OMIM:605928 skos:exactMatch UMLS:C1427585 Unspecified ARFIP1 +OMIM:146990 skos:exactMatch UMLS:C3887955 Unspecified immunoglobulin heavy chain diversity region 2 +OMIM:617901 skos:exactMatch HGNC_symbol:DEXI Unspecified DEXI +OMIM:617901 skos:exactMatch HGNC:13267 Unspecified DEXI +OMIM:617901 skos:exactMatch UMLS:C2829258 Unspecified DEXI +OMIM:252160 skos:exactMatch UMLS:C1854989 Unspecified molybdenum cofactor deficiency, complementation group B +OMIM:617900 skos:exactMatch UMLS:C4693542 Unspecified encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 +OMIM:617903 skos:exactMatch UMLS:C4693546 Unspecified neurodevelopmental disorder with poor language and loss of hand skills +OMIM:617902 skos:exactMatch HGNC:25012 Unspecified LGALSL +OMIM:617902 skos:exactMatch UMLS:C3470564 Unspecified LGALSL +OMIM:617902 skos:exactMatch HGNC_symbol:LGALSL Unspecified LGALSL +OMIM:617905 skos:exactMatch HGNC:28859 Unspecified HILPDA +OMIM:617905 skos:exactMatch UMLS:C2681253 Unspecified HILPDA +OMIM:617905 skos:exactMatch HGNC_symbol:HILPDA Unspecified HILPDA +OMIM:617904 skos:exactMatch ORPHA:3095 Unspecified developmental and epileptic encephalopathy 59 +OMIM:617904 skos:exactMatch UMLS:C4693550 Unspecified developmental and epileptic encephalopathy 59 +OMIM:617907 skos:exactMatch UMLS:C4693552 Unspecified erythrocytosis, familial, 5 +OMIM:617906 skos:exactMatch HGNC_symbol:CFAP20 Unspecified CFAP20 +OMIM:617906 skos:exactMatch UMLS:C1824433 Unspecified CFAP20 +OMIM:617906 skos:exactMatch HGNC:29523 Unspecified CFAP20 +OMIM:617909 skos:exactMatch UMLS:C1537620 Unspecified LSM10 +OMIM:617909 skos:exactMatch HGNC:17562 Unspecified LSM10 +OMIM:617909 skos:exactMatch HGNC_symbol:LSM10 Unspecified LSM10 +OMIM:183900 skos:exactMatch UMLS:C2745959 Unspecified spondyloepiphyseal dysplasia congenita +OMIM:617908 skos:exactMatch UMLS:C1428011 Unspecified ZNF473 +OMIM:617908 skos:exactMatch HGNC_symbol:ZNF473 Unspecified ZNF473 +OMIM:617908 skos:exactMatch HGNC:23239 Unspecified ZNF473 +OMIM:605910 skos:exactMatch HGNC:16039 Unspecified ANGPTL4 +OMIM:605910 skos:exactMatch HGNC_symbol:ANGPTL4 Unspecified ANGPTL4 +OMIM:605910 skos:exactMatch UMLS:C4016952 Unspecified ANGPTL4 +OMIM:605910 skos:exactMatch UMLS:C1423931 Unspecified ANGPTL4 +OMIM:264140 skos:exactMatch UMLS:C0403551 Unspecified prune belly syndrome with pulmonic stenosis, mental retardation, and deafness +OMIM:605911 skos:exactMatch UMLS:C2751532 Unspecified 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency +OMIM:605914 skos:exactMatch UMLS:C1425348 Unspecified TNFRSF12A +OMIM:605914 skos:exactMatch HGNC_symbol:TNFRSF12A Unspecified TNFRSF12A +OMIM:605914 skos:exactMatch HGNC:18152 Unspecified TNFRSF12A +OMIM:605915 skos:exactMatch UMLS:C1420601 Unspecified TBL3 +OMIM:605915 skos:exactMatch HGNC_symbol:TBL3 Unspecified TBL3 +OMIM:605915 skos:exactMatch HGNC:11587 Unspecified TBL3 +OMIM:156310 skos:exactMatch ORPHA:512 Unspecified metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a +OMIM:156310 skos:exactMatch UMLS:C1835007 Unspecified metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a +OMIM:605912 skos:exactMatch HGNC_symbol:MEPE Unspecified MEPE +OMIM:605912 skos:exactMatch UMLS:C1421950 Unspecified MEPE +OMIM:605912 skos:exactMatch HGNC:13361 Unspecified MEPE +OMIM:605913 skos:exactMatch UMLS:C1853831 Unspecified bleeding disorder, east texas iia +OMIM:605918 skos:exactMatch UMLS:C1420367 Unspecified SPON2 +OMIM:605918 skos:exactMatch HGNC_symbol:SPON2 Unspecified SPON2 +OMIM:605918 skos:exactMatch HGNC:11253 Unspecified SPON2 +OMIM:605916 skos:exactMatch HGNC:15680 Unspecified SPTBN5 +OMIM:605916 skos:exactMatch HGNC_symbol:SPTBN5 Unspecified SPTBN5 +OMIM:605916 skos:exactMatch UMLS:C1423653 Unspecified SPTBN5 +OMIM:605917 skos:exactMatch HGNC:1249 Unspecified TPX2 +OMIM:605917 skos:exactMatch HGNC_symbol:TPX2 Unspecified TPX2 +OMIM:605917 skos:exactMatch UMLS:C1412939 Unspecified TPX2 +OMIM:278780 skos:exactMatch ORPHA:910 Unspecified xeroderma pigmentosum, complementation group g +OMIM:278780 skos:exactMatch UMLS:C1968561 Unspecified xeroderma pigmentosum, complementation group g +OMIM:278780 skos:exactMatch UMLS:C0268141 Unspecified xeroderma pigmentosum, complementation group g +OMIM:278780 skos:exactMatch ORPHA:220295 Unspecified xeroderma pigmentosum, complementation group g +OMIM:278780 skos:exactMatch ORPHA:1466 Unspecified xeroderma pigmentosum, complementation group g +OMIM:278780 skos:exactMatch ORPHA:191 Unspecified xeroderma pigmentosum, complementation group g +OMIM:603324 skos:exactMatch UMLS:C3148751 Unspecified GJB3 +OMIM:603324 skos:exactMatch HGNC:4285 Unspecified GJB3 +OMIM:603324 skos:exactMatch HGNC_symbol:GJB3 Unspecified GJB3 +OMIM:603324 skos:exactMatch UMLS:C1415078 Unspecified GJB3 +OMIM:603324 skos:exactMatch UMLS:C1846647 Unspecified GJB3 +OMIM:605987 skos:exactMatch HGNC:16861 Unspecified PIAS3 +OMIM:605987 skos:exactMatch UMLS:C1335211 Unspecified PIAS3 +OMIM:605987 skos:exactMatch HGNC_symbol:PIAS3 Unspecified PIAS3 +OMIM:605988 skos:exactMatch HGNC:17642 Unspecified DCLRE1C +OMIM:605988 skos:exactMatch UMLS:C1425020 Unspecified DCLRE1C +OMIM:605988 skos:exactMatch HGNC_symbol:DCLRE1C Unspecified DCLRE1C +OMIM:603323 skos:exactMatch UMLS:C1864028 Unspecified muscular dystrophy, congenital, with cerebellar atrophy +OMIM:603326 skos:exactMatch UMLS:C1418831 Unspecified PPP1R3D +OMIM:603326 skos:exactMatch HGNC_symbol:PPP1R3D Unspecified PPP1R3D +OMIM:603326 skos:exactMatch HGNC:9294 Unspecified PPP1R3D +OMIM:605986 skos:exactMatch UMLS:C1539888 Unspecified STRAP +OMIM:605986 skos:exactMatch HGNC:30796 Unspecified STRAP +OMIM:605986 skos:exactMatch HGNC_symbol:STRAP Unspecified STRAP +OMIM:603325 skos:exactMatch UMLS:C1418835 Unspecified PPP1R9B +OMIM:603325 skos:exactMatch HGNC_symbol:PPP1R9B Unspecified PPP1R9B +OMIM:603325 skos:exactMatch HGNC:9298 Unspecified PPP1R9B +OMIM:603328 skos:exactMatch UMLS:C1417335 Unspecified MSI1 +OMIM:603328 skos:exactMatch HGNC_symbol:MSI1 Unspecified MSI1 +OMIM:603328 skos:exactMatch HGNC:7330 Unspecified MSI1 +OMIM:603327 skos:exactMatch UMLS:C1419261 Unspecified RANBP3 +OMIM:603327 skos:exactMatch HGNC:9850 Unspecified RANBP3 +OMIM:603327 skos:exactMatch HGNC_symbol:RANBP3 Unspecified RANBP3 +OMIM:605989 skos:exactMatch UMLS:C1538643 Unspecified PIAS4 +OMIM:605989 skos:exactMatch HGNC:17002 Unspecified PIAS4 +OMIM:605989 skos:exactMatch HGNC_symbol:PIAS4 Unspecified PIAS4 +OMIM:181300 skos:exactMatch UMLS:C1867019 Unspecified scapula, contour of vertebral border of +OMIM:617970 skos:exactMatch UMLS:C4693796 Unspecified rh-null, amorph iia +OMIM:156349 skos:exactMatch UMLS:C1417390 Unspecified MT1B +OMIM:156349 skos:exactMatch HGNC_symbol:MT1B Unspecified MT1B +OMIM:156349 skos:exactMatch HGNC:7394 Unspecified MT1B +OMIM:617972 skos:exactMatch UMLS:C1427107 Unspecified ZDHHC20 +OMIM:617972 skos:exactMatch HGNC:20749 Unspecified ZDHHC20 +OMIM:617972 skos:exactMatch HGNC_symbol:ZDHHC20 Unspecified ZDHHC20 +OMIM:615310 skos:exactMatch HGNC_symbol:TRV-AAC1-1 Unspecified TRV-AAC1-1 +OMIM:615310 skos:exactMatch HGNC:34885 Unspecified TRV-AAC1-1 +OMIM:615310 skos:exactMatch UMLS:C2681042 Unspecified TRV-AAC1-1 +OMIM:617971 skos:exactMatch UMLS:C4693797 Unspecified methemoglobinemia, beta iia +OMIM:617974 skos:exactMatch UMLS:C4693799 Unspecified spondyloepimetaphyseal dysplasia, di rocco iia +OMIM:615311 skos:exactMatch UMLS:C3714987 Unspecified bone mineral density quantitative trait locus 17 +OMIM:617973 skos:exactMatch UMLS:C4693798 Unspecified methemoglobinemia, alpha iia +OMIM:615312 skos:exactMatch UMLS:C3888401 Unspecified albinism, oculocutaneous, iia 5 +OMIM:615302 skos:exactMatch HGNC_symbol:ADAT3 Unspecified ADAT3 +OMIM:615302 skos:exactMatch UMLS:C2239292 Unspecified ADAT3 +OMIM:615302 skos:exactMatch HGNC:25151 Unspecified ADAT3 +OMIM:617965 skos:exactMatch UMLS:C4693784 Unspecified spermatogenic failure 27 +OMIM:617964 skos:exactMatch UMLS:C4693779 Unspecified leukodystrophy, hypomyelinating, 16 +OMIM:615303 skos:exactMatch HGNC:12274 Unspecified TRG-TCC1-1 +OMIM:615303 skos:exactMatch HGNC_symbol:TRG-TCC1-1 Unspecified TRG-TCC1-1 +OMIM:615303 skos:exactMatch UMLS:C1421119 Unspecified TRG-TCC1-1 +OMIM:617967 skos:exactMatch UMLS:C4747885 Unspecified hydrocephalus, congenital, 3, with brain anomalies +OMIM:615304 skos:exactMatch HGNC_symbol:TRV-CAC3-1 Unspecified TRV-CAC3-1 +OMIM:615304 skos:exactMatch HGNC:34985 Unspecified TRV-CAC3-1 +OMIM:615304 skos:exactMatch UMLS:C2681050 Unspecified TRV-CAC3-1 +OMIM:617966 skos:exactMatch UMLS:C4693795 Unspecified low density lipoprotein cholesterol level quantitative trait locus 7 +OMIM:617966 skos:exactMatch UMLS:C4694051 Unspecified low density lipoprotein cholesterol level quantitative trait locus 7 +OMIM:615305 skos:exactMatch HGNC:12344 Unspecified TRR-ACG1-2 +OMIM:615305 skos:exactMatch UMLS:C1421179 Unspecified TRR-ACG1-2 +OMIM:615305 skos:exactMatch HGNC_symbol:TRR-ACG1-2 Unspecified TRR-ACG1-2 +OMIM:617969 skos:exactMatch HGNC:26669 Unspecified CCDC63 +OMIM:617969 skos:exactMatch UMLS:C1824587 Unspecified CCDC63 +OMIM:617969 skos:exactMatch HGNC_symbol:CCDC63 Unspecified CCDC63 +OMIM:615306 skos:exactMatch HGNC_symbol:TRV-CAC1-6 Unspecified TRV-CAC1-6 +OMIM:615306 skos:exactMatch HGNC:34790 Unspecified TRV-CAC1-6 +OMIM:615306 skos:exactMatch UMLS:C2681039 Unspecified TRV-CAC1-6 +OMIM:617968 skos:exactMatch HGNC:30711 Unspecified WDR63 +OMIM:617968 skos:exactMatch UMLS:C1823827 Unspecified WDR63 +OMIM:617968 skos:exactMatch HGNC_symbol:DNAI3 Unspecified WDR63 +OMIM:615307 skos:exactMatch HGNC_symbol:TRV-AAC5-1 Unspecified TRV-AAC5-1 +OMIM:615307 skos:exactMatch HGNC:34573 Unspecified TRV-AAC5-1 +OMIM:615307 skos:exactMatch UMLS:C2681030 Unspecified TRV-AAC5-1 +OMIM:615308 skos:exactMatch UMLS:C2681035 Unspecified TRV-AAC4-1 +OMIM:615308 skos:exactMatch HGNC_symbol:TRV-AAC4-1 Unspecified TRV-AAC4-1 +OMIM:615308 skos:exactMatch HGNC:34723 Unspecified TRV-AAC4-1 +OMIM:615309 skos:exactMatch UMLS:C2681016 Unspecified TRT-AGT2-2 +OMIM:615309 skos:exactMatch HGNC_symbol:TRT-AGT2-2 Unspecified TRT-AGT2-2 +OMIM:615309 skos:exactMatch HGNC:34908 Unspecified TRT-AGT2-2 +OMIM:605990 skos:exactMatch UMLS:C2700426 Unspecified nephrolithiasis, uric acid, susceptibility to +OMIM:605991 skos:exactMatch UMLS:C1417718 Unspecified NGEF +OMIM:605991 skos:exactMatch HGNC:7807 Unspecified NGEF +OMIM:605991 skos:exactMatch HGNC_symbol:NGEF Unspecified NGEF +OMIM:603331 skos:exactMatch UMLS:C1825007 Unspecified DYNC1I2 +OMIM:603331 skos:exactMatch HGNC_symbol:DYNC1I2 Unspecified DYNC1I2 +OMIM:603331 skos:exactMatch HGNC:2964 Unspecified DYNC1I2 +OMIM:605994 skos:exactMatch HGNC:17449 Unspecified CYP39A1 +OMIM:605994 skos:exactMatch HGNC_symbol:CYP39A1 Unspecified CYP39A1 +OMIM:605994 skos:exactMatch UMLS:C1424970 Unspecified CYP39A1 +OMIM:605995 skos:exactMatch HGNC_symbol:KIF1B Unspecified KIF1B +OMIM:605995 skos:exactMatch HGNC:16636 Unspecified KIF1B +OMIM:605995 skos:exactMatch UMLS:C1424456 Unspecified KIF1B +OMIM:603330 skos:exactMatch UMLS:C1414104 Unspecified DNAH9 +OMIM:603330 skos:exactMatch HGNC:2953 Unspecified DNAH9 +OMIM:603330 skos:exactMatch HGNC_symbol:DNAH9 Unspecified DNAH9 +OMIM:603330 skos:exactMatch UMLS:C4749090 Unspecified DNAH9 +OMIM:603333 skos:exactMatch UMLS:C5436791 Unspecified DNAH2 +OMIM:603333 skos:exactMatch UMLS:C1414099 Unspecified DNAH2 +OMIM:603333 skos:exactMatch HGNC:2948 Unspecified DNAH2 +OMIM:603333 skos:exactMatch HGNC_symbol:DNAH2 Unspecified DNAH2 +OMIM:605992 skos:exactMatch HGNC_symbol:LHX5 Unspecified LHX5 +OMIM:605992 skos:exactMatch HGNC:14216 Unspecified LHX5 +OMIM:605992 skos:exactMatch UMLS:C1422491 Unspecified LHX5 +OMIM:603332 skos:exactMatch UMLS:C1414092 Unspecified DNAH1 +OMIM:603332 skos:exactMatch HGNC:2940 Unspecified DNAH1 +OMIM:603332 skos:exactMatch HGNC_symbol:DNAH1 Unspecified DNAH1 +OMIM:605993 skos:exactMatch UMLS:C1837429 Unspecified PDP1 +OMIM:605993 skos:exactMatch HGNC:9279 Unspecified PDP1 +OMIM:605993 skos:exactMatch HGNC_symbol:PDP1 Unspecified PDP1 +OMIM:605993 skos:exactMatch UMLS:C1418818 Unspecified PDP1 +OMIM:301770 skos:exactMatch HGNC_symbol:ARR3 Unspecified ARR3 +OMIM:301770 skos:exactMatch HGNC:710 Unspecified ARR3 +OMIM:301770 skos:exactMatch UMLS:C1412551 Unspecified ARR3 +OMIM:603313 skos:exactMatch UMLS:C1538264 Unspecified ALG10B +OMIM:603313 skos:exactMatch UMLS:C4016828 Unspecified ALG10B +OMIM:603313 skos:exactMatch HGNC:31088 Unspecified ALG10B +OMIM:603313 skos:exactMatch HGNC_symbol:ALG10B Unspecified ALG10B +OMIM:605976 skos:exactMatch HGNC_symbol:ZBTB6 Unspecified ZBTB6 +OMIM:605976 skos:exactMatch HGNC:16764 Unspecified ZBTB6 +OMIM:605976 skos:exactMatch UMLS:C1823901 Unspecified ZBTB6 +OMIM:603312 skos:exactMatch HGNC_symbol:BBOX1 Unspecified BBOX1 +OMIM:603312 skos:exactMatch HGNC:964 Unspecified BBOX1 +OMIM:603312 skos:exactMatch UMLS:C1412745 Unspecified BBOX1 +OMIM:605977 skos:exactMatch UMLS:C1422779 Unspecified IMMP2L +OMIM:605977 skos:exactMatch HGNC_symbol:IMMP2L Unspecified IMMP2L +OMIM:605977 skos:exactMatch HGNC:14598 Unspecified IMMP2L +OMIM:605974 skos:exactMatch HGNC:16939 Unspecified SLU7 +OMIM:605974 skos:exactMatch UMLS:C1822774 Unspecified SLU7 +OMIM:605974 skos:exactMatch HGNC_symbol:SLU7 Unspecified SLU7 +OMIM:603315 skos:exactMatch HGNC_symbol:NCS1 Unspecified NCS1 +OMIM:603315 skos:exactMatch HGNC:3953 Unspecified NCS1 +OMIM:603315 skos:exactMatch UMLS:C1414814 Unspecified NCS1 +OMIM:605975 skos:exactMatch HGNC_symbol:SRRM1 Unspecified SRRM1 +OMIM:605975 skos:exactMatch HGNC:16638 Unspecified SRRM1 +OMIM:605975 skos:exactMatch UMLS:C1424457 Unspecified SRRM1 +OMIM:603314 skos:exactMatch HGNC_symbol:SLC27A5 Unspecified SLC27A5 +OMIM:603314 skos:exactMatch UMLS:C1420167 Unspecified SLC27A5 +OMIM:603314 skos:exactMatch HGNC:10999 Unspecified SLC27A5 +OMIM:603317 skos:exactMatch UMLS:C1419122 Unspecified PTPRQ +OMIM:603317 skos:exactMatch HGNC_symbol:PTPRQ Unspecified PTPRQ +OMIM:603317 skos:exactMatch HGNC:9679 Unspecified PTPRQ +OMIM:603316 skos:exactMatch HGNC:18290 Unspecified CMAS +OMIM:603316 skos:exactMatch UMLS:C1425425 Unspecified CMAS +OMIM:603316 skos:exactMatch HGNC_symbol:CMAS Unspecified CMAS +OMIM:605978 skos:exactMatch HGNC:1908 Unspecified VPS13A +OMIM:605978 skos:exactMatch UMLS:C1413372 Unspecified VPS13A +OMIM:605978 skos:exactMatch HGNC_symbol:VPS13A Unspecified VPS13A +OMIM:603319 skos:exactMatch UMLS:C1412428 Unspecified ANXA9 +OMIM:603319 skos:exactMatch HGNC:547 Unspecified ANXA9 +OMIM:603319 skos:exactMatch HGNC_symbol:ANXA9 Unspecified ANXA9 +OMIM:264120 skos:exactMatch UMLS:C1849698 Unspecified prolactin deficiency with obesity and enlarged testes +OMIM:605979 skos:exactMatch UMLS:C1423522 Unspecified SNAPC5 +OMIM:605979 skos:exactMatch HGNC_symbol:SNAPC5 Unspecified SNAPC5 +OMIM:605979 skos:exactMatch HGNC:15484 Unspecified SNAPC5 +OMIM:617961 skos:exactMatch UMLS:C4693773 Unspecified spermatogenic failure 26 +OMIM:617960 skos:exactMatch UMLS:C4693765 Unspecified spermatogenic failure 25 +OMIM:615300 skos:exactMatch UMLS:C3809105 Unspecified perrault syndrome 4 +OMIM:617963 skos:exactMatch HGNC_symbol:TDRD9 Unspecified TDRD9 +OMIM:617963 skos:exactMatch HGNC:20122 Unspecified TDRD9 +OMIM:617963 skos:exactMatch UMLS:C1426706 Unspecified TDRD9 +OMIM:615301 skos:exactMatch UMLS:C2680480 Unspecified TMEM214 +OMIM:615301 skos:exactMatch HGNC:25983 Unspecified TMEM214 +OMIM:615301 skos:exactMatch HGNC_symbol:TMEM214 Unspecified TMEM214 +OMIM:617962 skos:exactMatch HGNC_symbol:ZNF827 Unspecified ZNF827 +OMIM:617962 skos:exactMatch HGNC:27193 Unspecified ZNF827 +OMIM:617962 skos:exactMatch UMLS:C2681144 Unspecified ZNF827 +OMIM:617954 skos:exactMatch UMLS:C4693741 Unspecified multiple mitochondrial dysfunctions syndrome 6 +OMIM:252150 skos:exactMatch UMLS:C1854988 Unspecified molybdenum cofactor deficiency, complementation group a +OMIM:278760 skos:exactMatch UMLS:C0268140 Unspecified xeroderma pigmentosum, complementation group f +OMIM:278760 skos:exactMatch UMLS:C3806565 Unspecified xeroderma pigmentosum, complementation group f +OMIM:617953 skos:exactMatch UMLS:C1840059 Unspecified hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency +OMIM:617956 skos:exactMatch UMLS:C4693750 Unspecified beta-glucopyranoside tasting +OMIM:617955 skos:exactMatch UMLS:C0265372 Unspecified phenytoin toxicity +OMIM:617955 skos:exactMatch UMLS:C0149969 Unspecified phenytoin toxicity +OMIM:617958 skos:exactMatch UMLS:C3892016 Unspecified ICE1 +OMIM:617958 skos:exactMatch HGNC:29154 Unspecified ICE1 +OMIM:617958 skos:exactMatch HGNC_symbol:ICE1 Unspecified ICE1 +OMIM:276100 skos:exactMatch UMLS:C0268473 Unspecified tryptophanuria with dwarfism +OMIM:617957 skos:exactMatch HGNC_symbol:LRRIQ3 Unspecified LRRIQ3 +OMIM:617957 skos:exactMatch UMLS:C1825891 Unspecified LRRIQ3 +OMIM:617957 skos:exactMatch HGNC:28318 Unspecified LRRIQ3 +OMIM:617959 skos:exactMatch UMLS:C4693751 Unspecified spermatogenic failure 24 +OMIM:605980 skos:exactMatch HGNC:16390 Unspecified NOD1 +OMIM:605980 skos:exactMatch HGNC_symbol:NOD1 Unspecified NOD1 +OMIM:605980 skos:exactMatch UMLS:C1826448 Unspecified NOD1 +OMIM:605983 skos:exactMatch HGNC_symbol:PPP2R1A Unspecified PPP2R1A +OMIM:605983 skos:exactMatch UMLS:C1418837 Unspecified PPP2R1A +OMIM:605983 skos:exactMatch HGNC:9302 Unspecified PPP2R1A +OMIM:603320 skos:exactMatch UMLS:C1417209 Unspecified MMP23A +OMIM:603320 skos:exactMatch HGNC_symbol:MMP23A Unspecified MMP23A +OMIM:603320 skos:exactMatch HGNC:7170 Unspecified MMP23A +OMIM:605984 skos:exactMatch HGNC:3188 Unspecified EED +OMIM:605984 skos:exactMatch UMLS:C1414269 Unspecified EED +OMIM:605984 skos:exactMatch HGNC_symbol:EED Unspecified EED +OMIM:605981 skos:exactMatch HGNC_symbol:UBR1 Unspecified UBR1 +OMIM:605981 skos:exactMatch HGNC:16808 Unspecified UBR1 +OMIM:605981 skos:exactMatch UMLS:C1424562 Unspecified UBR1 +OMIM:603322 skos:exactMatch UMLS:C1417638 Unspecified NDUFB6 +OMIM:603322 skos:exactMatch HGNC_symbol:NDUFB6 Unspecified NDUFB6 +OMIM:603322 skos:exactMatch HGNC:7701 Unspecified NDUFB6 +OMIM:603321 skos:exactMatch UMLS:C1417210 Unspecified MMP23B +OMIM:603321 skos:exactMatch HGNC_symbol:MMP23B Unspecified MMP23B +OMIM:603321 skos:exactMatch HGNC:7171 Unspecified MMP23B +OMIM:605965 skos:exactMatch UMLS:C1425755 Unspecified RIN1 +OMIM:605965 skos:exactMatch HGNC_symbol:RIN1 Unspecified RIN1 +OMIM:605965 skos:exactMatch HGNC:18749 Unspecified RIN1 +OMIM:156360 skos:exactMatch HGNC_symbol:MT2A Unspecified MT2A +OMIM:156360 skos:exactMatch HGNC:7406 Unspecified MT2A +OMIM:156360 skos:exactMatch UMLS:C1417402 Unspecified MT2A +OMIM:603302 skos:exactMatch UMLS:C1332025 Unspecified ADCY9 +OMIM:603302 skos:exactMatch HGNC_symbol:ADCY9 Unspecified ADCY9 +OMIM:603302 skos:exactMatch HGNC:240 Unspecified ADCY9 +OMIM:603301 skos:exactMatch HGNC_symbol:KLF11 Unspecified KLF11 +OMIM:603301 skos:exactMatch HGNC:11811 Unspecified KLF11 +OMIM:603301 skos:exactMatch UMLS:C1537489 Unspecified KLF11 +OMIM:605966 skos:exactMatch HGNC:5026 Unspecified HNF4G +OMIM:605966 skos:exactMatch HGNC_symbol:HNF4G Unspecified HNF4G +OMIM:605966 skos:exactMatch UMLS:C1415631 Unspecified HNF4G +OMIM:603304 skos:exactMatch HGNC_symbol:IRAK2 Unspecified IRAK2 +OMIM:603304 skos:exactMatch HGNC:6113 Unspecified IRAK2 +OMIM:603304 skos:exactMatch UMLS:C1334135 Unspecified IRAK2 +OMIM:605963 skos:exactMatch UMLS:C1423106 Unspecified SNX17 +OMIM:605963 skos:exactMatch HGNC_symbol:SNX17 Unspecified SNX17 +OMIM:605963 skos:exactMatch HGNC:14979 Unspecified SNX17 +OMIM:605964 skos:exactMatch HGNC:14978 Unspecified SNX15 +OMIM:605964 skos:exactMatch UMLS:C1423105 Unspecified SNX15 +OMIM:605964 skos:exactMatch HGNC_symbol:SNX15 Unspecified SNX15 +OMIM:603303 skos:exactMatch HGNC_symbol:TNKS Unspecified TNKS +OMIM:603303 skos:exactMatch HGNC:11941 Unspecified TNKS +OMIM:603303 skos:exactMatch UMLS:C1336654 Unspecified TNKS +OMIM:605969 skos:exactMatch HGNC:9979 Unspecified RFPL2 +OMIM:605969 skos:exactMatch UMLS:C1419356 Unspecified RFPL2 +OMIM:605969 skos:exactMatch HGNC_symbol:RFPL2 Unspecified RFPL2 +OMIM:603306 skos:exactMatch HGNC_symbol:TCF21 Unspecified TCF21 +OMIM:603306 skos:exactMatch HGNC:11632 Unspecified TCF21 +OMIM:603306 skos:exactMatch UMLS:C1420638 Unspecified TCF21 +OMIM:239199 skos:exactMatch UMLS:C1855924 Unspecified hyperparathyroidism, neonatal self-limited primary, with hypercalciuria +OMIM:603305 skos:exactMatch HGNC:6250 Unspecified KCNH1 +OMIM:603305 skos:exactMatch UMLS:C1416571 Unspecified KCNH1 +OMIM:603305 skos:exactMatch HGNC_symbol:KCNH1 Unspecified KCNH1 +OMIM:605967 skos:exactMatch ORPHA:85203 Unspecified acropectoral syndrome +OMIM:605967 skos:exactMatch UMLS:C1853812 Unspecified acropectoral syndrome +OMIM:603308 skos:exactMatch UMLS:C1413816 Unspecified CTSV +OMIM:603308 skos:exactMatch HGNC_symbol:CTSV Unspecified CTSV +OMIM:603308 skos:exactMatch HGNC:2538 Unspecified CTSV +OMIM:603307 skos:exactMatch UMLS:C1412789 Unspecified BFSP1 +OMIM:603307 skos:exactMatch HGNC:1040 Unspecified BFSP1 +OMIM:603307 skos:exactMatch HGNC_symbol:BFSP1 Unspecified BFSP1 +OMIM:605968 skos:exactMatch UMLS:C1419354 Unspecified RFPL1 +OMIM:605968 skos:exactMatch HGNC_symbol:RFPL1 Unspecified RFPL1 +OMIM:605968 skos:exactMatch HGNC:9977 Unspecified RFPL1 +OMIM:264110 skos:exactMatch UMLS:C0271586 Unspecified prolactin deficiency, isolated +OMIM:603309 skos:exactMatch UMLS:C1413262 Unspecified CDK13 +OMIM:603309 skos:exactMatch HGNC:1733 Unspecified CDK13 +OMIM:603309 skos:exactMatch HGNC_symbol:CDK13 Unspecified CDK13 +OMIM:617950 skos:exactMatch UMLS:C4693722 Unspecified combined oxidative phosphorylation deficiency 36 +OMIM:617952 skos:exactMatch UMLS:C4693736 Unspecified osteogenesis imperfecta, iia 18 +OMIM:617951 skos:exactMatch UMLS:C4693733 Unspecified leukodystrophy, hypomyelinating, 15 +OMIM:617943 skos:exactMatch HGNC:24278 Unspecified ABHD17B +OMIM:617943 skos:exactMatch HGNC_symbol:ABHD17B Unspecified ABHD17B +OMIM:617943 skos:exactMatch UMLS:C1428366 Unspecified ABHD17B +OMIM:617942 skos:exactMatch HGNC_symbol:ABHD17A Unspecified ABHD17A +OMIM:617942 skos:exactMatch UMLS:C1825237 Unspecified ABHD17A +OMIM:617942 skos:exactMatch HGNC:28756 Unspecified ABHD17A +OMIM:617945 skos:exactMatch HGNC:21019 Unspecified BTBD8 +OMIM:617945 skos:exactMatch HGNC_symbol:BTBD8 Unspecified BTBD8 +OMIM:617945 skos:exactMatch UMLS:C1825677 Unspecified BTBD8 +OMIM:617944 skos:exactMatch HGNC:26925 Unspecified ABHD17C +OMIM:617944 skos:exactMatch HGNC_symbol:ABHD17C Unspecified ABHD17C +OMIM:617944 skos:exactMatch UMLS:C3541169 Unspecified ABHD17C +OMIM:617947 skos:exactMatch HGNC:25529 Unspecified WDR74 +OMIM:617947 skos:exactMatch HGNC_symbol:WDR74 Unspecified WDR74 +OMIM:617947 skos:exactMatch UMLS:C1823838 Unspecified WDR74 +OMIM:617946 skos:exactMatch HGNC_symbol:ERGIC1 Unspecified ERGIC1 +OMIM:617946 skos:exactMatch UMLS:C1825061 Unspecified ERGIC1 +OMIM:617946 skos:exactMatch UMLS:C5435650 Unspecified ERGIC1 +OMIM:617946 skos:exactMatch HGNC:29205 Unspecified ERGIC1 +OMIM:278750 skos:exactMatch UMLS:C1848410 Unspecified xeroderma pigmentosum, variant iia +OMIM:617949 skos:exactMatch HGNC:26107 Unspecified CFAP69 +OMIM:617949 skos:exactMatch UMLS:C2681248 Unspecified CFAP69 +OMIM:617949 skos:exactMatch HGNC_symbol:CFAP69 Unspecified CFAP69 +OMIM:254780 skos:exactMatch ORPHA:501 Unspecified myoclonic epilepsy of lafora +OMIM:254780 skos:exactMatch UMLS:C0751783 Unspecified myoclonic epilepsy of lafora +OMIM:254780 skos:exactMatch UMLS:C1850764 Unspecified myoclonic epilepsy of lafora +OMIM:617948 skos:exactMatch ORPHA:288 Unspecified elliptocytosis 3 +OMIM:617948 skos:exactMatch UMLS:C1866810 Unspecified elliptocytosis 3 +OMIM:605972 skos:exactMatch HGNC_symbol:RFPL1S Unspecified RFPL1S +OMIM:605972 skos:exactMatch HGNC:9978 Unspecified RFPL1S +OMIM:605972 skos:exactMatch UMLS:C1419355 Unspecified RFPL1S +OMIM:605973 skos:exactMatch HGNC_symbol:DCAF7 Unspecified DCAF7 +OMIM:605973 skos:exactMatch UMLS:C1823832 Unspecified DCAF7 +OMIM:605973 skos:exactMatch HGNC:30915 Unspecified DCAF7 +OMIM:603311 skos:exactMatch UMLS:C1332727 Unspecified CDC7 +OMIM:603311 skos:exactMatch HGNC_symbol:CDC7 Unspecified CDC7 +OMIM:603311 skos:exactMatch HGNC:1745 Unspecified CDC7 +OMIM:605970 skos:exactMatch HGNC_symbol:RFPL3 Unspecified RFPL3 +OMIM:605970 skos:exactMatch HGNC:9980 Unspecified RFPL3 +OMIM:605970 skos:exactMatch UMLS:C1419357 Unspecified RFPL3 +OMIM:603310 skos:exactMatch UMLS:C1418424 Unspecified PDE5A +OMIM:603310 skos:exactMatch HGNC_symbol:PDE5A Unspecified PDE5A +OMIM:603310 skos:exactMatch HGNC:8784 Unspecified PDE5A +OMIM:605971 skos:exactMatch HGNC_symbol:RFPL3S Unspecified RFPL3S +OMIM:605971 skos:exactMatch HGNC:9981 Unspecified RFPL3S +OMIM:605971 skos:exactMatch UMLS:C1419358 Unspecified RFPL3S +OMIM:605954 skos:exactMatch HGNC_symbol:FETUB Unspecified FETUB +OMIM:605954 skos:exactMatch HGNC:3658 Unspecified FETUB +OMIM:605954 skos:exactMatch UMLS:C1414589 Unspecified FETUB +OMIM:605955 skos:exactMatch UMLS:C4479653 Unspecified NKX6-2 +OMIM:605955 skos:exactMatch HGNC:19321 Unspecified NKX6-2 +OMIM:605955 skos:exactMatch UMLS:C1426161 Unspecified NKX6-2 +OMIM:605955 skos:exactMatch HGNC_symbol:NKX6-2 Unspecified NKX6-2 +OMIM:156350 skos:exactMatch HGNC_symbol:MT1A Unspecified MT1A +OMIM:156350 skos:exactMatch HGNC:7393 Unspecified MT1A +OMIM:156350 skos:exactMatch UMLS:C1417389 Unspecified MT1A +OMIM:605952 skos:exactMatch HGNC:14973 Unspecified SNX9 +OMIM:605952 skos:exactMatch HGNC_symbol:SNX9 Unspecified SNX9 +OMIM:605952 skos:exactMatch UMLS:C1423100 Unspecified SNX9 +OMIM:156351 skos:exactMatch HGNC_symbol:MT1E Unspecified MT1E +OMIM:156351 skos:exactMatch HGNC:7397 Unspecified MT1E +OMIM:156351 skos:exactMatch UMLS:C1417393 Unspecified MT1E +OMIM:605953 skos:exactMatch UMLS:C1413944 Unspecified ASAP1 +OMIM:605953 skos:exactMatch HGNC_symbol:ASAP1 Unspecified ASAP1 +OMIM:605953 skos:exactMatch HGNC:2720 Unspecified ASAP1 +OMIM:156352 skos:exactMatch HGNC_symbol:MT1F Unspecified MT1F +OMIM:156352 skos:exactMatch HGNC:7398 Unspecified MT1F +OMIM:156352 skos:exactMatch UMLS:C1417394 Unspecified MT1F +OMIM:605958 skos:exactMatch HGNC:30764 Unspecified TRAIP +OMIM:605958 skos:exactMatch HGNC_symbol:TRAIP Unspecified TRAIP +OMIM:605958 skos:exactMatch UMLS:C2608049 Unspecified TRAIP +OMIM:156353 skos:exactMatch HGNC_symbol:MT1G Unspecified MT1G +OMIM:156353 skos:exactMatch HGNC:7399 Unspecified MT1G +OMIM:156353 skos:exactMatch UMLS:C1417395 Unspecified MT1G +OMIM:156354 skos:exactMatch UMLS:C1417396 Unspecified MT1H +OMIM:156354 skos:exactMatch HGNC_symbol:MT1H Unspecified MT1H +OMIM:156354 skos:exactMatch HGNC:7400 Unspecified MT1H +OMIM:605959 skos:exactMatch UMLS:C1853813 Unspecified hr44 antigen +OMIM:605956 skos:exactMatch HGNC:5331 Unspecified NOD2 +OMIM:605956 skos:exactMatch UMLS:C1826449 Unspecified NOD2 +OMIM:605956 skos:exactMatch HGNC_symbol:NOD2 Unspecified NOD2 +OMIM:156355 skos:exactMatch HGNC_symbol:MT1IP Unspecified MT1IP +OMIM:156355 skos:exactMatch UMLS:C1835006 Unspecified MT1IP +OMIM:156355 skos:exactMatch HGNC:7401 Unspecified MT1IP +OMIM:156356 skos:exactMatch UMLS:C1826313 Unspecified MT1JP +OMIM:156356 skos:exactMatch HGNC_symbol:MT1JP Unspecified MT1JP +OMIM:156356 skos:exactMatch HGNC:7402 Unspecified MT1JP +OMIM:240150 skos:exactMatch UMLS:C1855883 Unspecified hypervitaminosis a, susceptibility to +OMIM:156357 skos:exactMatch UMLS:C1826314 Unspecified MT1K +OMIM:156357 skos:exactMatch HGNC:14296 Unspecified MT1K +OMIM:156357 skos:exactMatch HGNC_symbol:MT1M Unspecified MT1K +OMIM:156358 skos:exactMatch UMLS:C1417400 Unspecified MT1LP +OMIM:156358 skos:exactMatch HGNC_symbol:MT1L Unspecified MT1LP +OMIM:156358 skos:exactMatch HGNC:7404 Unspecified MT1LP +OMIM:156359 skos:exactMatch UMLS:C1417401 Unspecified MT1X +OMIM:156359 skos:exactMatch HGNC_symbol:MT1X Unspecified MT1X +OMIM:156359 skos:exactMatch HGNC:7405 Unspecified MT1X +OMIM:617941 skos:exactMatch UMLS:C4693704 Unspecified shwachman-diamond syndrome 2 +OMIM:617940 skos:exactMatch HGNC_symbol:PLEKHG3 Unspecified PLEKHG3 +OMIM:617940 skos:exactMatch UMLS:C1538674 Unspecified PLEKHG3 +OMIM:617940 skos:exactMatch HGNC:20364 Unspecified PLEKHG3 +OMIM:617932 skos:exactMatch HGNC_symbol:RHPN2 Unspecified RHPN2 +OMIM:617932 skos:exactMatch HGNC:19974 Unspecified RHPN2 +OMIM:617932 skos:exactMatch UMLS:C1426575 Unspecified RHPN2 +OMIM:617931 skos:exactMatch UMLS:C4693672 Unspecified spinocerebellar ataxia 47 +OMIM:617934 skos:exactMatch HGNC_symbol:AEBP2 Unspecified AEBP2 +OMIM:617934 skos:exactMatch HGNC:24051 Unspecified AEBP2 +OMIM:617934 skos:exactMatch UMLS:C1428341 Unspecified AEBP2 +OMIM:617933 skos:exactMatch UMLS:C4693688 Unspecified developmental and epileptic encephalopathy 61 +OMIM:617936 skos:exactMatch UMLS:C0268379 Unspecified butyrylcholinesterase deficiency +OMIM:617936 skos:exactMatch ORPHA:132 Unspecified butyrylcholinesterase deficiency +OMIM:617936 skos:exactMatch UMLS:C1283400 Unspecified butyrylcholinesterase deficiency +OMIM:617936 skos:exactMatch UMLS:C1867467 Unspecified butyrylcholinesterase deficiency +OMIM:617935 skos:exactMatch UMLS:C4693694 Unspecified epilepsy, familial focal, with variable foci 4 +OMIM:617938 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 62 +OMIM:617938 skos:exactMatch UMLS:C4693699 Unspecified developmental and epileptic encephalopathy 62 +OMIM:617937 skos:exactMatch HGNC_symbol:RBM11 Unspecified RBM11 +OMIM:617937 skos:exactMatch HGNC:9897 Unspecified RBM11 +OMIM:617937 skos:exactMatch UMLS:C1419297 Unspecified RBM11 +OMIM:278740 skos:exactMatch UMLS:C1848411 Unspecified xeroderma pigmentosum, complementation group e +OMIM:617939 skos:exactMatch HGNC_symbol:ZFP69 Unspecified ZFP69 +OMIM:617939 skos:exactMatch HGNC:24708 Unspecified ZFP69 +OMIM:617939 skos:exactMatch UMLS:C1421822 Unspecified ZFP69 +OMIM:605961 skos:exactMatch HGNC_symbol:PLRG1 Unspecified PLRG1 +OMIM:605961 skos:exactMatch UMLS:C1418656 Unspecified PLRG1 +OMIM:605961 skos:exactMatch HGNC:9089 Unspecified PLRG1 +OMIM:605962 skos:exactMatch UMLS:C1826761 Unspecified RABEPK +OMIM:605962 skos:exactMatch HGNC_symbol:RABEPK Unspecified RABEPK +OMIM:605962 skos:exactMatch HGNC:16896 Unspecified RABEPK +OMIM:603300 skos:exactMatch HGNC:11895 Unspecified TNFAIP2 +OMIM:603300 skos:exactMatch UMLS:C1420798 Unspecified TNFAIP2 +OMIM:603300 skos:exactMatch HGNC_symbol:TNFAIP2 Unspecified TNFAIP2 +OMIM:605960 skos:exactMatch HGNC:9138 Unspecified EXOSC10 +OMIM:605960 skos:exactMatch HGNC_symbol:EXOSC10 Unspecified EXOSC10 +OMIM:605960 skos:exactMatch UMLS:C1539372 Unspecified EXOSC10 +OMIM:603368 skos:exactMatch HGNC_symbol:CDK6 Unspecified CDK6 +OMIM:603368 skos:exactMatch HGNC:1777 Unspecified CDK6 +OMIM:603368 skos:exactMatch UMLS:C1413287 Unspecified CDK6 +OMIM:603368 skos:exactMatch UMLS:C1863997 Unspecified CDK6 +OMIM:603369 skos:exactMatch HGNC_symbol:CDKN2C Unspecified CDKN2C +OMIM:603369 skos:exactMatch HGNC:1789 Unspecified CDKN2C +OMIM:603369 skos:exactMatch UMLS:C1332738 Unspecified CDKN2C +OMIM:615350 skos:exactMatch ORPHA:588 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 +OMIM:615350 skos:exactMatch UMLS:C3809216 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 +OMIM:615351 skos:exactMatch ORPHA:370968 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 +OMIM:615351 skos:exactMatch ORPHA:370959 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 +OMIM:615351 skos:exactMatch UMLS:C3809221 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 +OMIM:615352 skos:exactMatch UMLS:C3714932 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 +OMIM:615352 skos:exactMatch ORPHA:363623 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 +OMIM:615353 skos:exactMatch HGNC_symbol:CCDC28A Unspecified CCDC28A +OMIM:615353 skos:exactMatch HGNC:21098 Unspecified CCDC28A +OMIM:615353 skos:exactMatch UMLS:C3809232 Unspecified CCDC28A +OMIM:615353 skos:exactMatch UMLS:C1824553 Unspecified CCDC28A +OMIM:615354 skos:exactMatch UMLS:C1823723 Unspecified LRIF1 +OMIM:615354 skos:exactMatch HGNC:30299 Unspecified LRIF1 +OMIM:615354 skos:exactMatch HGNC_symbol:LRIF1 Unspecified LRIF1 +OMIM:615355 skos:exactMatch UMLS:C3809233 Unspecified noonan syndrome 8 +OMIM:615356 skos:exactMatch UMLS:C4517996 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 18 +OMIM:615346 skos:exactMatch UMLS:C3809199 Unspecified precocious puberty, central, 2 +OMIM:615347 skos:exactMatch HGNC:29230 Unspecified ATAD2B +OMIM:615347 skos:exactMatch HGNC_symbol:ATAD2B Unspecified ATAD2B +OMIM:615347 skos:exactMatch UMLS:C1825095 Unspecified ATAD2B +OMIM:227150 skos:exactMatch UMLS:C0268423 Unspecified ethanolaminosis +OMIM:615348 skos:exactMatch UMLS:C3809209 Unspecified nemaline myopathy 8 +OMIM:615348 skos:exactMatch ORPHA:171430 Unspecified nemaline myopathy 8 +OMIM:615349 skos:exactMatch UMLS:C3809210 Unspecified ehlers-danlos syndrome, spondylodysplastic type, 2 +OMIM:615349 skos:exactMatch ORPHA:536467 Unspecified ehlers-danlos syndrome, spondylodysplastic type, 2 +OMIM:615349 skos:exactMatch ORPHA:75496 Unspecified ehlers-danlos syndrome, spondylodysplastic type, 2 +OMIM:278730 skos:exactMatch UMLS:C0268138 Unspecified xeroderma pigmentosum, complementation group d +OMIM:252100 skos:exactMatch UMLS:C0026363 Unspecified mohr syndrome +OMIM:603371 skos:exactMatch HGNC:4315 Unspecified GLE1 +OMIM:603371 skos:exactMatch HGNC_symbol:GLE1 Unspecified GLE1 +OMIM:603371 skos:exactMatch UMLS:C1415101 Unspecified GLE1 +OMIM:603370 skos:exactMatch UMLS:C5394081 Unspecified UGDH +OMIM:603370 skos:exactMatch UMLS:C1442771 Unspecified UGDH +OMIM:603370 skos:exactMatch HGNC:12525 Unspecified UGDH +OMIM:603370 skos:exactMatch HGNC_symbol:UGDH Unspecified UGDH +OMIM:603373 skos:exactMatch UMLS:C1863959 Unspecified hyperthyroidism, familial gestational +OMIM:603373 skos:exactMatch ORPHA:99819 Unspecified hyperthyroidism, familial gestational +OMIM:603372 skos:exactMatch HGNC_symbol:TSHR Unspecified TSHR +OMIM:603372 skos:exactMatch UMLS:C1863960 Unspecified TSHR +OMIM:603372 skos:exactMatch UMLS:C1863961 Unspecified TSHR +OMIM:603372 skos:exactMatch HGNC:12373 Unspecified TSHR +OMIM:603372 skos:exactMatch UMLS:C1336679 Unspecified TSHR +OMIM:603375 skos:exactMatch UMLS:C1335844 Unspecified SMARCA5 +OMIM:603375 skos:exactMatch HGNC:11101 Unspecified SMARCA5 +OMIM:603375 skos:exactMatch HGNC_symbol:SMARCA5 Unspecified SMARCA5 +OMIM:603377 skos:exactMatch HGNC_symbol:SLC22A5 Unspecified SLC22A5 +OMIM:603377 skos:exactMatch UMLS:C1420140 Unspecified SLC22A5 +OMIM:603377 skos:exactMatch UMLS:C4015968 Unspecified SLC22A5 +OMIM:603377 skos:exactMatch UMLS:C0342788 Unspecified SLC22A5 +OMIM:603377 skos:exactMatch HGNC:10969 Unspecified SLC22A5 +OMIM:603376 skos:exactMatch UMLS:C1863958 Unspecified long chain fatty acids, defect 1n transport of +OMIM:603357 skos:exactMatch HGNC_symbol:SERPINB7 Unspecified SERPINB7 +OMIM:603357 skos:exactMatch HGNC:13902 Unspecified SERPINB7 +OMIM:603357 skos:exactMatch UMLS:C1422259 Unspecified SERPINB7 +OMIM:181350 skos:exactMatch UMLS:C0410190 Unspecified emery-dreifuss muscular dystrophy 2, autosomal dominant +OMIM:603356 skos:exactMatch HGNC:1632 Unspecified CD164 +OMIM:603356 skos:exactMatch UMLS:C1413205 Unspecified CD164 +OMIM:603356 skos:exactMatch HGNC_symbol:CD164 Unspecified CD164 +OMIM:603359 skos:exactMatch UMLS:C1417629 Unspecified NDUFA8 +OMIM:603359 skos:exactMatch HGNC_symbol:NDUFA8 Unspecified NDUFA8 +OMIM:603359 skos:exactMatch HGNC:7692 Unspecified NDUFA8 +OMIM:603358 skos:exactMatch UMLS:C1864002 Unspecified gracile syndrome +OMIM:615340 skos:exactMatch UMLS:C1428967 Unspecified None +OMIM:615340 skos:exactMatch HGNC:30372 Unspecified None +OMIM:615340 skos:exactMatch HGNC_symbol:KLHL40 Unspecified None +OMIM:615341 skos:exactMatch HGNC:20575 Unspecified CYP4A22 +OMIM:615341 skos:exactMatch UMLS:C1539211 Unspecified CYP4A22 +OMIM:615341 skos:exactMatch HGNC_symbol:CYP4A22 Unspecified CYP4A22 +OMIM:615342 skos:exactMatch UMLS:C3888002 Unspecified pulmonary hypertension, primary, 2 +OMIM:615343 skos:exactMatch UMLS:C3809192 Unspecified pulmonary hypertension, primary, 3 +OMIM:615344 skos:exactMatch UMLS:C3809198 Unspecified pulmonary hypertension, primary, 4 +OMIM:615345 skos:exactMatch HGNC:33778 Unspecified MYMK +OMIM:615345 skos:exactMatch HGNC_symbol:MYMK Unspecified MYMK +OMIM:615345 skos:exactMatch UMLS:C2828870 Unspecified MYMK +OMIM:615335 skos:exactMatch HGNC:23749 Unspecified CERS5 +OMIM:615335 skos:exactMatch UMLS:C3469891 Unspecified CERS5 +OMIM:615335 skos:exactMatch HGNC_symbol:CERS5 Unspecified CERS5 +OMIM:254770 skos:exactMatch UMLS:C1850778 Unspecified epilepsy, myoclonic juvenile +OMIM:254770 skos:exactMatch UMLS:C0270853 Unspecified epilepsy, myoclonic juvenile +OMIM:168360 skos:exactMatch HGNC_symbol:ELAVL4 Unspecified ELAVL4 +OMIM:168360 skos:exactMatch HGNC:3315 Unspecified ELAVL4 +OMIM:168360 skos:exactMatch UMLS:C1414374 Unspecified ELAVL4 +OMIM:617998 skos:exactMatch HGNC:26136 Unspecified GAREM1 +OMIM:617998 skos:exactMatch UMLS:C1539465 Unspecified GAREM1 +OMIM:617998 skos:exactMatch HGNC_symbol:GAREM1 Unspecified GAREM1 +OMIM:617997 skos:exactMatch UMLS:C1826788 Unspecified RCCD1 +OMIM:617997 skos:exactMatch HGNC_symbol:RCCD1 Unspecified RCCD1 +OMIM:617997 skos:exactMatch HGNC:30457 Unspecified RCCD1 +OMIM:615336 skos:exactMatch HGNC:23826 Unspecified CERS6 +OMIM:615336 skos:exactMatch UMLS:C3469892 Unspecified CERS6 +OMIM:615336 skos:exactMatch HGNC_symbol:CERS6 Unspecified CERS6 +OMIM:615337 skos:exactMatch HGNC:21727 Unspecified B3GNTL1 +OMIM:615337 skos:exactMatch UMLS:C1427724 Unspecified B3GNTL1 +OMIM:615337 skos:exactMatch HGNC_symbol:B3GNTL1 Unspecified B3GNTL1 +OMIM:615338 skos:exactMatch UMLS:C3809173 Unspecified developmental and epileptic encephalopathy 16 +OMIM:615338 skos:exactMatch ORPHA:293181 Unspecified developmental and epileptic encephalopathy 16 +OMIM:615338 skos:exactMatch ORPHA:352596 Unspecified developmental and epileptic encephalopathy 16 +OMIM:617999 skos:exactMatch HGNC:27172 Unspecified GAREM2 +OMIM:617999 skos:exactMatch UMLS:C1539466 Unspecified GAREM2 +OMIM:617999 skos:exactMatch HGNC_symbol:GAREM2 Unspecified GAREM2 +OMIM:615339 skos:exactMatch HGNC:20325 Unspecified DNAJC15 +OMIM:615339 skos:exactMatch UMLS:C1824946 Unspecified DNAJC15 +OMIM:615339 skos:exactMatch HGNC_symbol:DNAJC15 Unspecified DNAJC15 +OMIM:278720 skos:exactMatch UMLS:C2752147 Unspecified xeroderma pigmentosum, complementation group c +OMIM:278720 skos:exactMatch ORPHA:910 Unspecified xeroderma pigmentosum, complementation group c +OMIM:603360 skos:exactMatch HGNC:8857 Unspecified PEX16 +OMIM:603360 skos:exactMatch HGNC_symbol:PEX16 Unspecified PEX16 +OMIM:603360 skos:exactMatch UMLS:C1418476 Unspecified PEX16 +OMIM:603362 skos:exactMatch HGNC_symbol:SH3GL3 Unspecified SH3GL3 +OMIM:603362 skos:exactMatch UMLS:C1420027 Unspecified SH3GL3 +OMIM:603362 skos:exactMatch HGNC:10832 Unspecified SH3GL3 +OMIM:603361 skos:exactMatch HGNC_symbol:TNFRSF6B Unspecified TNFRSF6B +OMIM:603361 skos:exactMatch HGNC:11921 Unspecified TNFRSF6B +OMIM:603361 skos:exactMatch UMLS:C1367454 Unspecified TNFRSF6B +OMIM:603364 skos:exactMatch UMLS:C1419994 Unspecified SRSF3 +OMIM:603364 skos:exactMatch HGNC_symbol:SRSF3 Unspecified SRSF3 +OMIM:603364 skos:exactMatch HGNC:10785 Unspecified SRSF3 +OMIM:603363 skos:exactMatch HGNC_symbol:CGGBP1 Unspecified CGGBP1 +OMIM:603363 skos:exactMatch HGNC:1888 Unspecified CGGBP1 +OMIM:603363 skos:exactMatch UMLS:C1413369 Unspecified CGGBP1 +OMIM:603366 skos:exactMatch UMLS:C1420806 Unspecified TNFRSF25 +OMIM:603366 skos:exactMatch HGNC_symbol:TNFRSF25 Unspecified TNFRSF25 +OMIM:603366 skos:exactMatch HGNC:11910 Unspecified TNFRSF25 +OMIM:603365 skos:exactMatch UMLS:C1415550 Unspecified HIRIP3 +OMIM:603365 skos:exactMatch HGNC_symbol:HIRIP3 Unspecified HIRIP3 +OMIM:603365 skos:exactMatch HGNC:4917 Unspecified HIRIP3 +OMIM:603346 skos:exactMatch UMLS:C1417773 Unspecified NPAS1 +OMIM:603346 skos:exactMatch HGNC_symbol:NPAS1 Unspecified NPAS1 +OMIM:603346 skos:exactMatch HGNC:7894 Unspecified NPAS1 +OMIM:301780 skos:exactMatch HGNC:716 Unspecified ARSC2 +OMIM:301780 skos:exactMatch UMLS:C1412555 Unspecified ARSC2 +OMIM:301780 skos:exactMatch HGNC_symbol:ARSC2 Unspecified ARSC2 +OMIM:603345 skos:exactMatch UMLS:C1420196 Unspecified SLC4A4 +OMIM:603345 skos:exactMatch HGNC_symbol:SLC4A4 Unspecified SLC4A4 +OMIM:603345 skos:exactMatch HGNC:11030 Unspecified SLC4A4 +OMIM:603348 skos:exactMatch HGNC:4910 Unspecified HIF1A +OMIM:603348 skos:exactMatch HGNC_symbol:HIF1A Unspecified HIF1A +OMIM:603348 skos:exactMatch UMLS:C1333897 Unspecified HIF1A +OMIM:603347 skos:exactMatch UMLS:C1417774 Unspecified NPAS2 +OMIM:603347 skos:exactMatch HGNC_symbol:NPAS2 Unspecified NPAS2 +OMIM:603347 skos:exactMatch HGNC:7895 Unspecified NPAS2 +OMIM:603349 skos:exactMatch HGNC:3374 Unspecified EPAS1 +OMIM:603349 skos:exactMatch UMLS:C1414421 Unspecified EPAS1 +OMIM:603349 skos:exactMatch HGNC_symbol:EPAS1 Unspecified EPAS1 +OMIM:617990 skos:exactMatch HGNC:28212 Unspecified NAA38 +OMIM:617990 skos:exactMatch HGNC_symbol:NAA38 Unspecified NAA38 +OMIM:617990 skos:exactMatch UMLS:C1825915 Unspecified NAA38 +OMIM:617992 skos:exactMatch UMLS:C1866053 Unspecified deafness, congenital heart defects, and posterior embryotoxon +OMIM:617991 skos:exactMatch UMLS:C4693860 Unspecified chung-jansen syndrome +OMIM:615330 skos:exactMatch UMLS:C3809165 Unspecified multiple mitochondrial dysfunctions syndrome 3 +OMIM:615331 skos:exactMatch HGNC:21728 Unspecified IRF2BP1 +OMIM:615331 skos:exactMatch UMLS:C1427725 Unspecified IRF2BP1 +OMIM:615331 skos:exactMatch HGNC_symbol:IRF2BP1 Unspecified IRF2BP1 +OMIM:311100 skos:exactMatch UMLS:C1839565 Unspecified optic atrophy--spastic paraplegia syndrome +OMIM:617994 skos:exactMatch ORPHA:306661 Unspecified tumoral calcinosis, hyperphosphatemic, familial, 3 +OMIM:617994 skos:exactMatch UMLS:C4693864 Unspecified tumoral calcinosis, hyperphosphatemic, familial, 3 +OMIM:615332 skos:exactMatch HGNC:21729 Unspecified IRF2BP2 +OMIM:615332 skos:exactMatch UMLS:C1427726 Unspecified IRF2BP2 +OMIM:615332 skos:exactMatch HGNC_symbol:IRF2BP2 Unspecified IRF2BP2 +OMIM:617993 skos:exactMatch ORPHA:306661 Unspecified tumoral calcinosis, hyperphosphatemic, familial, 2 +OMIM:617993 skos:exactMatch UMLS:C4693863 Unspecified tumoral calcinosis, hyperphosphatemic, familial, 2 +OMIM:615333 skos:exactMatch HGNC_symbol:B3GNT5 Unspecified B3GNT5 +OMIM:615333 skos:exactMatch HGNC:15684 Unspecified B3GNT5 +OMIM:615333 skos:exactMatch UMLS:C1423656 Unspecified B3GNT5 +OMIM:617996 skos:exactMatch UMLS:C4693865 Unspecified oocyte maturation defect 5 +OMIM:617995 skos:exactMatch UMLS:C3888196 Unspecified impdh2 enzyme activity, variation 1n +OMIM:615334 skos:exactMatch HGNC:23747 Unspecified CERS4 +OMIM:615334 skos:exactMatch UMLS:C3469890 Unspecified CERS4 +OMIM:615334 skos:exactMatch HGNC_symbol:CERS4 Unspecified CERS4 +OMIM:617987 skos:exactMatch UMLS:C1537454 Unspecified METTL13 +OMIM:617987 skos:exactMatch HGNC_symbol:METTL13 Unspecified METTL13 +OMIM:617987 skos:exactMatch HGNC:24248 Unspecified METTL13 +OMIM:615324 skos:exactMatch UMLS:C1825639 Unspecified JOSD2 +OMIM:615324 skos:exactMatch HGNC:28853 Unspecified JOSD2 +OMIM:615324 skos:exactMatch HGNC_symbol:JOSD2 Unspecified JOSD2 +OMIM:617986 skos:exactMatch UMLS:C1825806 Unspecified LDLRAD3 +OMIM:617986 skos:exactMatch HGNC:27046 Unspecified LDLRAD3 +OMIM:617986 skos:exactMatch HGNC_symbol:LDLRAD3 Unspecified LDLRAD3 +OMIM:615326 skos:exactMatch HGNC:21714 Unspecified IFNK +OMIM:615326 skos:exactMatch UMLS:C1427711 Unspecified IFNK +OMIM:615326 skos:exactMatch HGNC_symbol:IFNK Unspecified IFNK +OMIM:617989 skos:exactMatch UMLS:C1826356 Unspecified NAA30 +OMIM:617989 skos:exactMatch HGNC_symbol:NAA30 Unspecified NAA30 +OMIM:617989 skos:exactMatch HGNC:19844 Unspecified NAA30 +OMIM:617988 skos:exactMatch UMLS:C4693848 Unspecified jaberi-elahi syndrome +OMIM:615327 skos:exactMatch UMLS:C3809147 Unspecified dowling-degos disease 2 +OMIM:615328 skos:exactMatch UMLS:C3809160 Unspecified shaheen syndrome +OMIM:615329 skos:exactMatch HGNC_symbol:EXOC2 Unspecified EXOC2 +OMIM:615329 skos:exactMatch HGNC:24968 Unspecified EXOC2 +OMIM:615329 skos:exactMatch UMLS:C1825074 Unspecified EXOC2 +OMIM:193300 skos:exactMatch ORPHA:892 Unspecified von hippel-lindau syndrome +OMIM:193300 skos:exactMatch UMLS:C0019562 Unspecified von hippel-lindau syndrome +OMIM:603351 skos:exactMatch HGNC:8088 Unspecified OAS3 +OMIM:603351 skos:exactMatch HGNC_symbol:OAS3 Unspecified OAS3 +OMIM:603351 skos:exactMatch UMLS:C1417914 Unspecified OAS3 +OMIM:603350 skos:exactMatch HGNC:8087 Unspecified OAS2 +OMIM:603350 skos:exactMatch HGNC_symbol:OAS2 Unspecified OAS2 +OMIM:603350 skos:exactMatch UMLS:C1417913 Unspecified OAS2 +OMIM:603353 skos:exactMatch HGNC_symbol:SLC4A7 Unspecified SLC4A7 +OMIM:603353 skos:exactMatch HGNC:11033 Unspecified SLC4A7 +OMIM:603353 skos:exactMatch UMLS:C1420197 Unspecified SLC4A7 +OMIM:603352 skos:exactMatch HGNC:593 Unspecified BIRC5 +OMIM:603352 skos:exactMatch UMLS:C1332416 Unspecified BIRC5 +OMIM:603352 skos:exactMatch HGNC_symbol:BIRC5 Unspecified BIRC5 +OMIM:301790 skos:exactMatch UMLS:C1844936 Unspecified spinocerebellar ataxia, X-linked 3 +OMIM:603355 skos:exactMatch HGNC:15456 Unspecified MBTPS1 +OMIM:603355 skos:exactMatch HGNC_symbol:MBTPS1 Unspecified MBTPS1 +OMIM:603355 skos:exactMatch UMLS:C1423502 Unspecified MBTPS1 +OMIM:603355 skos:exactMatch UMLS:C5193071 Unspecified MBTPS1 +OMIM:603354 skos:exactMatch UMLS:C1415006 Unspecified GBX1 +OMIM:603354 skos:exactMatch HGNC_symbol:GBX1 Unspecified GBX1 +OMIM:603354 skos:exactMatch HGNC:4185 Unspecified GBX1 +OMIM:605998 skos:exactMatch UMLS:C1825449 Unspecified HAX1 +OMIM:605998 skos:exactMatch HGNC:16915 Unspecified HAX1 +OMIM:605998 skos:exactMatch HGNC_symbol:HAX1 Unspecified HAX1 +OMIM:603335 skos:exactMatch UMLS:C1414101 Unspecified DNAH5 +OMIM:603335 skos:exactMatch HGNC:2950 Unspecified DNAH5 +OMIM:603335 skos:exactMatch HGNC_symbol:DNAH5 Unspecified DNAH5 +OMIM:605999 skos:exactMatch HGNC_symbol:CLEC10A Unspecified CLEC10A +OMIM:605999 skos:exactMatch HGNC:16916 Unspecified CLEC10A +OMIM:605999 skos:exactMatch UMLS:C1539104 Unspecified CLEC10A +OMIM:603334 skos:exactMatch UMLS:C1414100 Unspecified DNAH3 +OMIM:603334 skos:exactMatch HGNC:2949 Unspecified DNAH3 +OMIM:603334 skos:exactMatch HGNC_symbol:DNAH3 Unspecified DNAH3 +OMIM:603337 skos:exactMatch UMLS:C5436799 Unspecified DNAH8 +OMIM:603337 skos:exactMatch UMLS:C2986382 Unspecified DNAH8 +OMIM:603337 skos:exactMatch UMLS:C1414103 Unspecified DNAH8 +OMIM:603337 skos:exactMatch HGNC:2952 Unspecified DNAH8 +OMIM:603337 skos:exactMatch HGNC_symbol:DNAH8 Unspecified DNAH8 +OMIM:605996 skos:exactMatch UMLS:C1414131 Unspecified DXO +OMIM:605996 skos:exactMatch HGNC_symbol:DXO Unspecified DXO +OMIM:605996 skos:exactMatch HGNC:2992 Unspecified DXO +OMIM:603336 skos:exactMatch UMLS:C1414102 Unspecified DNAH6 +OMIM:603336 skos:exactMatch HGNC:2951 Unspecified DNAH6 +OMIM:603336 skos:exactMatch HGNC_symbol:DNAH6 Unspecified DNAH6 +OMIM:605997 skos:exactMatch HGNC_symbol:PPP2R2C Unspecified PPP2R2C +OMIM:605997 skos:exactMatch UMLS:C1418840 Unspecified PPP2R2C +OMIM:605997 skos:exactMatch HGNC:9306 Unspecified PPP2R2C +OMIM:603339 skos:exactMatch UMLS:C1414094 Unspecified DNAH11 +OMIM:603339 skos:exactMatch HGNC:2942 Unspecified DNAH11 +OMIM:603339 skos:exactMatch HGNC_symbol:DNAH11 Unspecified DNAH11 +OMIM:617981 skos:exactMatch UMLS:C4693823 Unspecified erythrocytosis, familial, 7 +OMIM:617980 skos:exactMatch UMLS:C4693822 Unspecified erythrocytosis, familial, 6 +OMIM:617983 skos:exactMatch UMLS:C4693831 Unspecified microcephaly 21, primary, autosomal recessive +OMIM:615320 skos:exactMatch UMLS:C3809216 Unspecified GMPPB +OMIM:615320 skos:exactMatch UMLS:C3809221 Unspecified GMPPB +OMIM:615320 skos:exactMatch HGNC:22932 Unspecified GMPPB +OMIM:615320 skos:exactMatch UMLS:C3714932 Unspecified GMPPB +OMIM:615320 skos:exactMatch UMLS:C1539586 Unspecified GMPPB +OMIM:615320 skos:exactMatch HGNC_symbol:GMPPB Unspecified GMPPB +OMIM:617982 skos:exactMatch UMLS:C4693824 Unspecified ververi-brady syndrome +OMIM:615321 skos:exactMatch HGNC:2065 Unspecified CLIC6 +OMIM:615321 skos:exactMatch UMLS:C1413487 Unspecified CLIC6 +OMIM:615321 skos:exactMatch HGNC_symbol:CLIC6 Unspecified CLIC6 +OMIM:617985 skos:exactMatch UMLS:C4693843 Unspecified microcephaly 23, primary, autosomal recessive +OMIM:615322 skos:exactMatch UMLS:C1537608 Unspecified NRROS +OMIM:615322 skos:exactMatch HGNC_symbol:NRROS Unspecified NRROS +OMIM:615322 skos:exactMatch UMLS:C5394359 Unspecified NRROS +OMIM:615322 skos:exactMatch HGNC:24613 Unspecified NRROS +OMIM:617984 skos:exactMatch UMLS:C4693834 Unspecified microcephaly 22, primary, autosomal recessive +OMIM:615323 skos:exactMatch UMLS:C1825638 Unspecified JOSD1 +OMIM:615323 skos:exactMatch HGNC:28953 Unspecified JOSD1 +OMIM:615323 skos:exactMatch HGNC_symbol:JOSD1 Unspecified JOSD1 +OMIM:615313 skos:exactMatch HGNC:18811 Unspecified B3GNT7 +OMIM:615313 skos:exactMatch HGNC_symbol:B3GNT7 Unspecified B3GNT7 +OMIM:615313 skos:exactMatch UMLS:C1425794 Unspecified B3GNT7 +OMIM:617976 skos:exactMatch UMLS:C4693810 Unspecified developmental and epileptic encephalopathy 63 +OMIM:615314 skos:exactMatch ORPHA:35098 Unspecified craniosynostosis 3 +OMIM:615314 skos:exactMatch ORPHA:35099 Unspecified craniosynostosis 3 +OMIM:615314 skos:exactMatch UMLS:C3715051 Unspecified craniosynostosis 3 +OMIM:617975 skos:exactMatch HGNC:28346 Unspecified FAM210A +OMIM:617975 skos:exactMatch HGNC_symbol:FAM210A Unspecified FAM210A +OMIM:617975 skos:exactMatch UMLS:C3470286 Unspecified FAM210A +OMIM:615315 skos:exactMatch UMLS:C1423657 Unspecified B3GNT6 +OMIM:615315 skos:exactMatch HGNC_symbol:B3GNT6 Unspecified B3GNT6 +OMIM:615315 skos:exactMatch HGNC:24141 Unspecified B3GNT6 +OMIM:617978 skos:exactMatch HGNC_symbol:CYRIB Unspecified FAM49B +OMIM:617978 skos:exactMatch HGNC:25216 Unspecified FAM49B +OMIM:617978 skos:exactMatch UMLS:C1539453 Unspecified FAM49B +OMIM:615316 skos:exactMatch UMLS:C1823215 Unspecified IBA57 +OMIM:615316 skos:exactMatch HGNC:27302 Unspecified IBA57 +OMIM:615316 skos:exactMatch HGNC_symbol:IBA57 Unspecified IBA57 +OMIM:617977 skos:exactMatch UMLS:C4693816 Unspecified neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures +OMIM:615317 skos:exactMatch HGNC:19857 Unspecified ISCA2 +OMIM:615317 skos:exactMatch HGNC_symbol:ISCA2 Unspecified ISCA2 +OMIM:615317 skos:exactMatch UMLS:C2239551 Unspecified ISCA2 +OMIM:617979 skos:exactMatch UMLS:C4693821 Unspecified None +OMIM:615318 skos:exactMatch UMLS:C1539991 Unspecified TMEM14C +OMIM:615318 skos:exactMatch HGNC:20952 Unspecified TMEM14C +OMIM:615318 skos:exactMatch HGNC_symbol:TMEM14C Unspecified TMEM14C +OMIM:615319 skos:exactMatch UMLS:C1825598 Unspecified IMPACT +OMIM:615319 skos:exactMatch HGNC:20387 Unspecified IMPACT +OMIM:615319 skos:exactMatch HGNC_symbol:IMPACT Unspecified IMPACT +OMIM:603340 skos:exactMatch UMLS:C1414095 Unspecified DNAH12 +OMIM:603340 skos:exactMatch HGNC:2943 Unspecified DNAH12 +OMIM:603340 skos:exactMatch HGNC_symbol:DNAH12 Unspecified DNAH12 +OMIM:278700 skos:exactMatch UMLS:C0268135 Unspecified xeroderma pigmentosum, complementation group a +OMIM:603342 skos:exactMatch UMLS:C1864010 Unspecified schizophrenia 2 +OMIM:603341 skos:exactMatch UMLS:C1414097 Unspecified DNAH14 +OMIM:603341 skos:exactMatch HGNC:2945 Unspecified DNAH14 +OMIM:603341 skos:exactMatch HGNC_symbol:DNAH14 Unspecified DNAH14 +OMIM:603344 skos:exactMatch UMLS:C1864009 Unspecified USO1 +OMIM:603344 skos:exactMatch HGNC_symbol:USO1 Unspecified USO1 +OMIM:603344 skos:exactMatch HGNC:30904 Unspecified USO1 +OMIM:603343 skos:exactMatch HGNC_symbol:RAE1 Unspecified RAE1 +OMIM:603343 skos:exactMatch HGNC:9828 Unspecified RAE1 +OMIM:603343 skos:exactMatch UMLS:C1419246 Unspecified RAE1 +OMIM:254960 skos:exactMatch UMLS:C1850744 Unspecified myopathy due to malate-aspartate shuttle defect +OMIM:252300 skos:exactMatch UMLS:C2931140 Unspecified morquio syndrome c +OMIM:239350 skos:exactMatch UMLS:C1855922 Unspecified hyperphosphatemia, polyuria, and seizures +OMIM:615490 skos:exactMatch UMLS:C3809655 Unspecified charcot-marie-tooth disease, axonal, iia 2r +OMIM:615491 skos:exactMatch UMLS:C3809665 Unspecified spastic paraplegia 79, autosomal recessive +OMIM:615492 skos:exactMatch UMLS:C3809671 Unspecified None +OMIM:615493 skos:exactMatch UMLS:C3809672 Unspecified intellectual developmental disorder, autosomal recessive 37 +OMIM:615493 skos:exactMatch ORPHA:356996 Unspecified intellectual developmental disorder, autosomal recessive 37 +OMIM:615494 skos:exactMatch UMLS:C4017383 Unspecified CFAP298 +OMIM:615494 skos:exactMatch UMLS:C4017384 Unspecified CFAP298 +OMIM:615494 skos:exactMatch UMLS:C1412981 Unspecified CFAP298 +OMIM:615494 skos:exactMatch HGNC_symbol:CFAP298 Unspecified CFAP298 +OMIM:615494 skos:exactMatch HGNC:1301 Unspecified CFAP298 +OMIM:615495 skos:exactMatch UMLS:C1539585 Unspecified GMPPA +OMIM:615495 skos:exactMatch HGNC_symbol:GMPPA Unspecified GMPPA +OMIM:615495 skos:exactMatch HGNC:22923 Unspecified GMPPA +OMIM:615496 skos:exactMatch HGNC_symbol:AGBL1 Unspecified AGBL1 +OMIM:615496 skos:exactMatch HGNC:26504 Unspecified AGBL1 +OMIM:615496 skos:exactMatch UMLS:C1540192 Unspecified AGBL1 +OMIM:615497 skos:exactMatch UMLS:C1822784 Unspecified MIEF1 +OMIM:615497 skos:exactMatch HGNC:25979 Unspecified MIEF1 +OMIM:615497 skos:exactMatch HGNC_symbol:MIEF1 Unspecified MIEF1 +OMIM:240300 skos:exactMatch UMLS:C0085859 Unspecified autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia +OMIM:240300 skos:exactMatch UMLS:C1855868 Unspecified autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia +OMIM:240300 skos:exactMatch UMLS:C1855869 Unspecified autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia +OMIM:615498 skos:exactMatch UMLS:C1425177 Unspecified MIEF2 +OMIM:615498 skos:exactMatch HGNC_symbol:MIEF2 Unspecified MIEF2 +OMIM:615498 skos:exactMatch UMLS:C5436616 Unspecified MIEF2 +OMIM:615498 skos:exactMatch HGNC:17920 Unspecified MIEF2 +OMIM:615499 skos:exactMatch HGNC:30263 Unspecified PDP2 +OMIM:615499 skos:exactMatch HGNC_symbol:PDP2 Unspecified PDP2 +OMIM:615499 skos:exactMatch UMLS:C2829996 Unspecified PDP2 +OMIM:615489 skos:exactMatch UMLS:C3809653 Unspecified macular degeneration, age-related, 14 +OMIM:615489 skos:exactMatch UMLS:C3809654 Unspecified macular degeneration, age-related, 14 +OMIM:254940 skos:exactMatch UMLS:C1850746 Unspecified carey-fineman-ziter syndrome +OMIM:603499 skos:exactMatch UMLS:C1420805 Unspecified TNFRSF11A +OMIM:603499 skos:exactMatch HGNC_symbol:TNFRSF11A Unspecified TNFRSF11A +OMIM:603499 skos:exactMatch HGNC:11908 Unspecified TNFRSF11A +OMIM:615480 skos:exactMatch HGNC:48597 Unspecified BLACAT1 +OMIM:615480 skos:exactMatch UMLS:C3809633 Unspecified BLACAT1 +OMIM:615480 skos:exactMatch HGNC_symbol:BLACAT1 Unspecified BLACAT1 +OMIM:615481 skos:exactMatch UMLS:C3809634 Unspecified ciliary dyskinesia, primary, 24 +OMIM:615482 skos:exactMatch UMLS:C3809641 Unspecified ciliary dyskinesia, primary, 25 +OMIM:266920 skos:exactMatch UMLS:C1849437 Unspecified short-rib thoracic dysplasia 9 with or without polydactyly +OMIM:615483 skos:exactMatch UMLS:C3809645 Unspecified basal ganglia calcification, idiopathic, 5 +OMIM:615484 skos:exactMatch HGNC_symbol:PTCD2 Unspecified PTCD2 +OMIM:615484 skos:exactMatch HGNC:25734 Unspecified PTCD2 +OMIM:615484 skos:exactMatch UMLS:C1428515 Unspecified PTCD2 +OMIM:615485 skos:exactMatch UMLS:C3809650 Unspecified bainbridge-ropers syndrome +OMIM:615486 skos:exactMatch UMLS:C4225400 Unspecified interstitial lung and liver disease +OMIM:615487 skos:exactMatch HGNC:32624 Unspecified SNORA2C +OMIM:615487 skos:exactMatch UMLS:C1822846 Unspecified SNORA2C +OMIM:615487 skos:exactMatch UMLS:C2681775 Unspecified SNORA2C +OMIM:615487 skos:exactMatch HGNC_symbol:SNORA2C Unspecified SNORA2C +OMIM:615488 skos:exactMatch HGNC_symbol:KANSL2 Unspecified KANSL2 +OMIM:615488 skos:exactMatch HGNC:26024 Unspecified KANSL2 +OMIM:615488 skos:exactMatch UMLS:C3470530 Unspecified KANSL2 +OMIM:615478 skos:exactMatch HGNC:29291 Unspecified NYAP2 +OMIM:615478 skos:exactMatch HGNC_symbol:NYAP2 Unspecified NYAP2 +OMIM:615478 skos:exactMatch UMLS:C3471331 Unspecified NYAP2 +OMIM:615479 skos:exactMatch HGNC_symbol:MYO16 Unspecified MYO16 +OMIM:615479 skos:exactMatch HGNC:29822 Unspecified MYO16 +OMIM:615479 skos:exactMatch UMLS:C2239765 Unspecified MYO16 +OMIM:278900 skos:exactMatch UMLS:C1848407 Unspecified xylosidase deficiency +OMIM:254950 skos:exactMatch UMLS:C1850745 Unspecified myopathy, granulovacuolar lobular, with electrical myotonia +OMIM:217980 skos:exactMatch UMLS:C0796184 Unspecified corpus callosum, agenesis of, with facial anomalies and robin sequence +OMIM:266910 skos:exactMatch UMLS:C1849438 Unspecified renal dysplasia-limb defects syndrome +OMIM:227300 skos:exactMatch UMLS:C4551981 Unspecified factor 5 and factor viii, combined deficiency of, 1 +OMIM:203330 skos:exactMatch UMLS:C2932717 Unspecified pseudohypoparathyroidism, iia 2 +OMIM:203340 skos:exactMatch UMLS:C1859910 Unspecified albinism-microcephaly-digital anomalies syndrome +OMIM:217990 skos:exactMatch UMLS:C0175754 Unspecified corpus callosum, agenesis of +OMIM:266900 skos:exactMatch UMLS:C4551559 Unspecified senior-loken syndrome 1 +OMIM:227330 skos:exactMatch UMLS:C1856871 Unspecified faciodigitogenital syndrome, autosomal recessive +OMIM:254900 skos:exactMatch UMLS:C0751779 Unspecified epilepsy, progressive myoclonic, 4, with or without renal failure +OMIM:239300 skos:exactMatch UMLS:C4551502 Unspecified hyperphosphatasia with mental retardation syndrome 1 +OMIM:227310 skos:exactMatch UMLS:C1856882 Unspecified factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor +OMIM:227320 skos:exactMatch UMLS:C2931184 Unspecified faciothoracogenital syndrome +OMIM:242900 skos:exactMatch UMLS:C0877024 Unspecified schimke immunoosseous dysplasia +OMIM:205950 skos:exactMatch UMLS:C4225425 Unspecified anemia, sideroblastic, 2, pyridoxine-refractory +OMIM:203300 skos:exactMatch ORPHA:79430 Unspecified hermansky-pudlak syndrome 1 +OMIM:203300 skos:exactMatch UMLS:C2931875 Unspecified hermansky-pudlak syndrome 1 +OMIM:203300 skos:exactMatch ORPHA:231500 Unspecified hermansky-pudlak syndrome 1 +OMIM:230900 skos:exactMatch ORPHA:355 Unspecified gaucher disease, iia 2 +OMIM:230900 skos:exactMatch ORPHA:77260 Unspecified gaucher disease, iia 2 +OMIM:230900 skos:exactMatch UMLS:C0268250 Unspecified gaucher disease, iia 2 +OMIM:120470 skos:exactMatch UMLS:C0079414 Unspecified DCC +OMIM:120470 skos:exactMatch HGNC_symbol:DCC Unspecified DCC +OMIM:120470 skos:exactMatch HGNC:2701 Unspecified DCC +OMIM:215300 skos:exactMatch UMLS:C0008479 Unspecified chondrosarcoma +OMIM:215300 skos:exactMatch ORPHA:55880 Unspecified chondrosarcoma +OMIM:132500 skos:exactMatch UMLS:C0339819 Unspecified epistaxis, hereditary +OMIM:120450 skos:exactMatch UMLS:C0345424 Unspecified comedones, familial dyskeratotic +OMIM:107470 skos:exactMatch UMLS:C1838332 Unspecified IFNGR1 +OMIM:107470 skos:exactMatch UMLS:C4014863 Unspecified IFNGR1 +OMIM:107470 skos:exactMatch UMLS:C1969665 Unspecified IFNGR1 +OMIM:107470 skos:exactMatch UMLS:C1334083 Unspecified IFNGR1 +OMIM:107470 skos:exactMatch UMLS:C1864880 Unspecified IFNGR1 +OMIM:107470 skos:exactMatch UMLS:C4011949 Unspecified IFNGR1 +OMIM:107470 skos:exactMatch UMLS:C1834752 Unspecified IFNGR1 +OMIM:107470 skos:exactMatch HGNC_symbol:IFNGR1 Unspecified IFNGR1 +OMIM:107470 skos:exactMatch HGNC:5439 Unspecified IFNGR1 +OMIM:120440 skos:exactMatch UMLS:C1852721 Unspecified colonic varices without portal hypertension +OMIM:107480 skos:exactMatch UMLS:C4551481 Unspecified townes-brocks syndrome 1 +OMIM:107480 skos:exactMatch UMLS:C1862683 Unspecified townes-brocks syndrome 1 +OMIM:120430 skos:exactMatch UMLS:C3554721 Unspecified coloboma of optic nerve +OMIM:120430 skos:exactMatch UMLS:C0155299 Unspecified coloboma of optic nerve +OMIM:120433 skos:exactMatch UMLS:C3805432 Unspecified coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation +OMIM:120436 skos:exactMatch UMLS:C0879389 Unspecified MLH1 +OMIM:120436 skos:exactMatch UMLS:C4015968 Unspecified MLH1 +OMIM:120436 skos:exactMatch UMLS:C4015969 Unspecified MLH1 +OMIM:120436 skos:exactMatch UMLS:C5399763 Unspecified MLH1 +OMIM:120436 skos:exactMatch HGNC_symbol:MLH1 Unspecified MLH1 +OMIM:120436 skos:exactMatch HGNC:7127 Unspecified MLH1 +OMIM:120436 skos:exactMatch UMLS:C1321489 Unspecified MLH1 +OMIM:120436 skos:exactMatch UMLS:C1333991 Unspecified MLH1 +OMIM:120435 skos:exactMatch ORPHA:144 Unspecified lynch syndrome 1 +OMIM:120435 skos:exactMatch UMLS:C2936783 Unspecified lynch syndrome 1 +OMIM:311050 skos:exactMatch UMLS:C1839576 Unspecified optic atrophy 2 +OMIM:107580 skos:exactMatch HGNC:11742 Unspecified TFAP2A +OMIM:107580 skos:exactMatch UMLS:C0919496 Unspecified TFAP2A +OMIM:107580 skos:exactMatch HGNC_symbol:TFAP2A Unspecified TFAP2A +OMIM:119550 skos:exactMatch UMLS:C0795898 Unspecified syngnathia +OMIM:156400 skos:exactMatch UMLS:C0265295 Unspecified metaphyseal chondrodysplasia, jansen iia +OMIM:107550 skos:exactMatch UMLS:C1862681 Unspecified aortic arch interruption, facial palsy, and retinal coloboma +OMIM:311030 skos:exactMatch HGNC:6940 Unspecified MCF2 +OMIM:311030 skos:exactMatch UMLS:C0812211 Unspecified MCF2 +OMIM:311030 skos:exactMatch HGNC_symbol:MCF2 Unspecified MCF2 +OMIM:119540 skos:exactMatch UMLS:C1837218 Unspecified cleft palate, isolated +OMIM:120520 skos:exactMatch UMLS:C1366499 Unspecified MME +OMIM:120520 skos:exactMatch HGNC_symbol:MME Unspecified MME +OMIM:120520 skos:exactMatch HGNC:7154 Unspecified MME +OMIM:311040 skos:exactMatch HGNC:3321 Unspecified ELK1 +OMIM:311040 skos:exactMatch UMLS:C0812446 Unspecified ELK1 +OMIM:311040 skos:exactMatch HGNC_symbol:ELK1 Unspecified ELK1 +OMIM:311040 skos:exactMatch UMLS:C1414379 Unspecified ELK1 +OMIM:530000 skos:exactMatch UMLS:C0022541 Unspecified kearns-sayre syndrome +OMIM:119530 skos:exactMatch ORPHA:141291 Unspecified orofacial cleft 1 +OMIM:119530 skos:exactMatch UMLS:C1861537 Unspecified orofacial cleft 1 +OMIM:119530 skos:exactMatch ORPHA:199306 Unspecified orofacial cleft 1 +OMIM:119530 skos:exactMatch ORPHA:199302 Unspecified orofacial cleft 1 +OMIM:603401 skos:exactMatch UMLS:C1412446 Unspecified AP3B1 +OMIM:603401 skos:exactMatch HGNC_symbol:AP3B1 Unspecified AP3B1 +OMIM:603401 skos:exactMatch HGNC:566 Unspecified AP3B1 +OMIM:603400 skos:exactMatch HGNC:12771 Unspecified CCN6 +OMIM:603400 skos:exactMatch UMLS:C1421509 Unspecified CCN6 +OMIM:603400 skos:exactMatch UMLS:C5436955 Unspecified CCN6 +OMIM:603400 skos:exactMatch HGNC_symbol:CCN6 Unspecified CCN6 +OMIM:603403 skos:exactMatch HGNC:2738 Unspecified DHX15 +OMIM:603403 skos:exactMatch UMLS:C1413955 Unspecified DHX15 +OMIM:603403 skos:exactMatch HGNC_symbol:DHX15 Unspecified DHX15 +OMIM:603402 skos:exactMatch HGNC_symbol:ACOX3 Unspecified ACOX3 +OMIM:603402 skos:exactMatch UMLS:C1412130 Unspecified ACOX3 +OMIM:603402 skos:exactMatch HGNC:121 Unspecified ACOX3 +OMIM:603405 skos:exactMatch HGNC:2739 Unspecified DHX16 +OMIM:603405 skos:exactMatch UMLS:C1333208 Unspecified DHX16 +OMIM:603405 skos:exactMatch HGNC_symbol:DHX16 Unspecified DHX16 +OMIM:603405 skos:exactMatch UMLS:C5231483 Unspecified DHX16 +OMIM:603404 skos:exactMatch HGNC:12957 Unspecified ZNF169 +OMIM:603404 skos:exactMatch UMLS:C1421656 Unspecified ZNF169 +OMIM:603404 skos:exactMatch HGNC_symbol:ZNF169 Unspecified ZNF169 +OMIM:132450 skos:exactMatch UMLS:C1851536 Unspecified epiphyseal dysplasia, multiple, with myopia and conductive deafness +OMIM:132450 skos:exactMatch ORPHA:166011 Unspecified epiphyseal dysplasia, multiple, with myopia and conductive deafness +OMIM:603407 skos:exactMatch HGNC:8557 Unspecified PABPC4 +OMIM:603407 skos:exactMatch HGNC_symbol:PABPC4 Unspecified PABPC4 +OMIM:603407 skos:exactMatch UMLS:C1418230 Unspecified PABPC4 +OMIM:603406 skos:exactMatch UMLS:C1823488 Unspecified TRIM24 +OMIM:603406 skos:exactMatch HGNC_symbol:TRIM24 Unspecified TRIM24 +OMIM:603406 skos:exactMatch UMLS:C1863898 Unspecified TRIM24 +OMIM:603406 skos:exactMatch HGNC:11812 Unspecified TRIM24 +OMIM:603409 skos:exactMatch HGNC_symbol:FZD6 Unspecified FZD6 +OMIM:603409 skos:exactMatch UMLS:C1333587 Unspecified FZD6 +OMIM:603409 skos:exactMatch UMLS:C0406443 Unspecified FZD6 +OMIM:603409 skos:exactMatch HGNC:4044 Unspecified FZD6 +OMIM:603408 skos:exactMatch UMLS:C1414886 Unspecified FZD1 +OMIM:603408 skos:exactMatch HGNC_symbol:FZD1 Unspecified FZD1 +OMIM:603408 skos:exactMatch HGNC:4038 Unspecified FZD1 +OMIM:168400 skos:exactMatch UMLS:C1868616 Unspecified parastremmatic dwarfism +OMIM:120500 skos:exactMatch UMLS:C0399605 Unspecified commissural 51p pits +OMIM:603410 skos:exactMatch HGNC_symbol:FZD7 Unspecified FZD7 +OMIM:603410 skos:exactMatch UMLS:C1333588 Unspecified FZD7 +OMIM:603410 skos:exactMatch HGNC:4045 Unspecified FZD7 +OMIM:120502 skos:exactMatch UMLS:C1852718 Unspecified branchiootic syndrome 2 +OMIM:119500 skos:exactMatch ORPHA:1300 Unspecified popliteal pterygium syndrome +OMIM:119500 skos:exactMatch UMLS:C0265259 Unspecified popliteal pterygium syndrome +OMIM:264270 skos:exactMatch UMLS:C1849696 Unspecified pseudohermaphroditism, female, with skeletal anomalies +OMIM:311070 skos:exactMatch UMLS:C1839566 Unspecified charcot-marie-tooth disease, X-linked recessive, 5 +OMIM:107500 skos:exactMatch UMLS:C1862682 Unspecified aortic arch anomaly with peculiar facies and mental retardation +OMIM:603445 skos:exactMatch HGNC:6316 Unspecified KHSRP +OMIM:603445 skos:exactMatch HGNC_symbol:KHSRP Unspecified KHSRP +OMIM:603445 skos:exactMatch UMLS:C1416631 Unspecified KHSRP +OMIM:603444 skos:exactMatch HGNC:4004 Unspecified FUBP1 +OMIM:603444 skos:exactMatch HGNC_symbol:FUBP1 Unspecified FUBP1 +OMIM:603444 skos:exactMatch UMLS:C1414855 Unspecified FUBP1 +OMIM:603447 skos:exactMatch HGNC:5185 Unspecified HRK +OMIM:603447 skos:exactMatch UMLS:C1333925 Unspecified HRK +OMIM:603447 skos:exactMatch HGNC_symbol:HRK Unspecified HRK +OMIM:603446 skos:exactMatch UMLS:C1863879 Unspecified oroacral syndrome, verloes-koulischer iia +OMIM:603449 skos:exactMatch HGNC_symbol:RUVBL1 Unspecified RUVBL1 +OMIM:603449 skos:exactMatch UMLS:C1419773 Unspecified RUVBL1 +OMIM:603449 skos:exactMatch HGNC:10474 Unspecified RUVBL1 +OMIM:603448 skos:exactMatch UMLS:C1413898 Unspecified DAB1 +OMIM:603448 skos:exactMatch HGNC_symbol:DAB1 Unspecified DAB1 +OMIM:603448 skos:exactMatch HGNC:2661 Unspecified DAB1 +OMIM:615430 skos:exactMatch HGNC:31723 Unspecified TMEM241 +OMIM:615430 skos:exactMatch HGNC_symbol:TMEM241 Unspecified TMEM241 +OMIM:615430 skos:exactMatch UMLS:C3470101 Unspecified TMEM241 +OMIM:615431 skos:exactMatch UMLS:C3809482 Unspecified myopia 23, autosomal recessive +OMIM:168440 skos:exactMatch HGNC_symbol:PTMS Unspecified PTMS +OMIM:168440 skos:exactMatch HGNC:9629 Unspecified PTMS +OMIM:168440 skos:exactMatch UMLS:C1419086 Unspecified PTMS +OMIM:615432 skos:exactMatch UMLS:C3809483 Unspecified specific language impairment 5 +OMIM:615433 skos:exactMatch UMLS:C3809490 Unspecified chromosome 3q13.31 deletion syndrome +OMIM:615423 skos:exactMatch HGNC_symbol:TRMT10C Unspecified TRMT10C +OMIM:615423 skos:exactMatch UMLS:C1428545 Unspecified TRMT10C +OMIM:615423 skos:exactMatch HGNC:26022 Unspecified TRMT10C +OMIM:615424 skos:exactMatch UMLS:C3809469 Unspecified inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 +OMIM:615425 skos:exactMatch UMLS:C3809470 Unspecified epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency +OMIM:615426 skos:exactMatch UMLS:C3715156 Unspecified amyotrophic lateral sclerosis 20 +OMIM:615427 skos:exactMatch UMLS:C1538785 Unspecified ELMOD3 +OMIM:615427 skos:exactMatch HGNC_symbol:ELMOD3 Unspecified ELMOD3 +OMIM:615427 skos:exactMatch HGNC:26158 Unspecified ELMOD3 +OMIM:615428 skos:exactMatch UMLS:C1425702 Unspecified DDX47 +OMIM:615428 skos:exactMatch HGNC:18682 Unspecified DDX47 +OMIM:615428 skos:exactMatch HGNC_symbol:DDX47 Unspecified DDX47 +OMIM:615429 skos:exactMatch UMLS:C2829267 Unspecified deafness, autosomal recessive 88 +OMIM:193400 skos:exactMatch UMLS:C1264039 Unspecified von willebrand disease, iia 1 +OMIM:603450 skos:exactMatch HGNC_symbol:LDB2 Unspecified LDB2 +OMIM:603450 skos:exactMatch UMLS:C1416810 Unspecified LDB2 +OMIM:603450 skos:exactMatch HGNC:6533 Unspecified LDB2 +OMIM:603451 skos:exactMatch HGNC_symbol:LDB1 Unspecified LDB1 +OMIM:603451 skos:exactMatch UMLS:C1416809 Unspecified LDB1 +OMIM:603451 skos:exactMatch HGNC:6532 Unspecified LDB1 +OMIM:603454 skos:exactMatch HGNC:2340 Unspecified CRADD +OMIM:603454 skos:exactMatch UMLS:C1413699 Unspecified CRADD +OMIM:603454 skos:exactMatch HGNC_symbol:CRADD Unspecified CRADD +OMIM:603453 skos:exactMatch HGNC:10019 Unspecified RIPK1 +OMIM:603453 skos:exactMatch UMLS:C4748212 Unspecified RIPK1 +OMIM:603453 skos:exactMatch UMLS:C1335623 Unspecified RIPK1 +OMIM:603453 skos:exactMatch UMLS:C5394286 Unspecified RIPK1 +OMIM:603453 skos:exactMatch HGNC_symbol:RIPK1 Unspecified RIPK1 +OMIM:603434 skos:exactMatch HGNC:8822 Unspecified PEA15 +OMIM:603434 skos:exactMatch UMLS:C1418449 Unspecified PEA15 +OMIM:603434 skos:exactMatch HGNC_symbol:PEA15 Unspecified PEA15 +OMIM:603433 skos:exactMatch HGNC:12928 Unspecified ZNF143 +OMIM:603433 skos:exactMatch UMLS:C1421635 Unspecified ZNF143 +OMIM:603433 skos:exactMatch HGNC_symbol:ZNF143 Unspecified ZNF143 +OMIM:603436 skos:exactMatch HGNC:12996 Unspecified ZNF205 +OMIM:603436 skos:exactMatch HGNC_symbol:ZNF205 Unspecified ZNF205 +OMIM:603436 skos:exactMatch UMLS:C1421693 Unspecified ZNF205 +OMIM:603435 skos:exactMatch HGNC:4557 Unspecified GPX5 +OMIM:603435 skos:exactMatch HGNC_symbol:GPX5 Unspecified GPX5 +OMIM:603435 skos:exactMatch UMLS:C1415279 Unspecified GPX5 +OMIM:181430 skos:exactMatch UMLS:C4759774 Unspecified scapuloperoneal myopathy, myh7-related +OMIM:603438 skos:exactMatch UMLS:C1863881 Unspecified radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation +OMIM:603437 skos:exactMatch UMLS:C1413746 Unspecified YBX3 +OMIM:603437 skos:exactMatch HGNC_symbol:YBX3 Unspecified YBX3 +OMIM:603437 skos:exactMatch HGNC:2428 Unspecified YBX3 +OMIM:603439 skos:exactMatch UMLS:C1863880 Unspecified expansile bone lesions +OMIM:615420 skos:exactMatch UMLS:C3809464 Unspecified myopia 22, autosomal dominant +OMIM:615421 skos:exactMatch UMLS:C1824640 Unspecified CCDC111 +OMIM:615421 skos:exactMatch HGNC_symbol:PRIMPOL Unspecified CCDC111 +OMIM:615421 skos:exactMatch HGNC:26575 Unspecified CCDC111 +OMIM:615422 skos:exactMatch UMLS:C3809468 Unspecified inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 +OMIM:615412 skos:exactMatch UMLS:C3809420 Unspecified cortical dysplasia, complex, with other brain malformations 4 +OMIM:615413 skos:exactMatch UMLS:C3809427 Unspecified spermatogenic failure 12 +OMIM:252270 skos:exactMatch ORPHA:495930 Unspecified monosomy 7 myelodysplasia and leukemia syndrome 1 +OMIM:252270 skos:exactMatch UMLS:C1854978 Unspecified monosomy 7 myelodysplasia and leukemia syndrome 1 +OMIM:252270 skos:exactMatch UMLS:C5435704 Unspecified monosomy 7 myelodysplasia and leukemia syndrome 1 +OMIM:615414 skos:exactMatch ORPHA:2512 Unspecified microcephaly 11, primary, autosomal recessive +OMIM:615414 skos:exactMatch UMLS:C3809431 Unspecified microcephaly 11, primary, autosomal recessive +OMIM:615415 skos:exactMatch UMLS:C3809434 Unspecified renal-hepatic-pancreatic dysplasia 2 +OMIM:615416 skos:exactMatch UMLS:C2681183 Unspecified BHLHA9 +OMIM:615416 skos:exactMatch HGNC_symbol:BHLHA9 Unspecified BHLHA9 +OMIM:615416 skos:exactMatch HGNC:35126 Unspecified BHLHA9 +OMIM:615417 skos:exactMatch HGNC_symbol:BET1L Unspecified BET1L +OMIM:615417 skos:exactMatch HGNC:19348 Unspecified BET1L +OMIM:615417 skos:exactMatch UMLS:C1426180 Unspecified BET1L +OMIM:615418 skos:exactMatch UMLS:C3809443 Unspecified mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive +OMIM:615419 skos:exactMatch UMLS:C3809454 Unspecified hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +OMIM:603441 skos:exactMatch HGNC:1781 Unspecified CDKL1 +OMIM:603441 skos:exactMatch UMLS:C1413291 Unspecified CDKL1 +OMIM:603441 skos:exactMatch HGNC_symbol:CDKL1 Unspecified CDKL1 +OMIM:603440 skos:exactMatch UMLS:C1418393 Unspecified CDK17 +OMIM:603440 skos:exactMatch HGNC:8750 Unspecified CDK17 +OMIM:603440 skos:exactMatch HGNC_symbol:CDK17 Unspecified CDK17 +OMIM:603443 skos:exactMatch UMLS:C1419803 Unspecified VPS52 +OMIM:603443 skos:exactMatch HGNC:10518 Unspecified VPS52 +OMIM:603443 skos:exactMatch HGNC_symbol:VPS52 Unspecified VPS52 +OMIM:603442 skos:exactMatch UMLS:C1332736 Unspecified CDKL2 +OMIM:603442 skos:exactMatch HGNC:1782 Unspecified CDKL2 +OMIM:603442 skos:exactMatch HGNC_symbol:CDKL2 Unspecified CDKL2 +OMIM:603423 skos:exactMatch HGNC_symbol:PRDM1 Unspecified PRDM1 +OMIM:603423 skos:exactMatch HGNC:9346 Unspecified PRDM1 +OMIM:603423 skos:exactMatch UMLS:C1335253 Unspecified PRDM1 +OMIM:603422 skos:exactMatch UMLS:C1424333 Unspecified PDLIM4 +OMIM:603422 skos:exactMatch HGNC_symbol:PDLIM4 Unspecified PDLIM4 +OMIM:603422 skos:exactMatch HGNC:16501 Unspecified PDLIM4 +OMIM:603425 skos:exactMatch UMLS:C1412536 Unspecified ARL1 +OMIM:603425 skos:exactMatch HGNC_symbol:ARL1 Unspecified ARL1 +OMIM:603425 skos:exactMatch HGNC:692 Unspecified ARL1 +OMIM:603424 skos:exactMatch HGNC_symbol:PRKRA Unspecified PRKRA +OMIM:603424 skos:exactMatch UMLS:C1418931 Unspecified PRKRA +OMIM:603424 skos:exactMatch HGNC:9438 Unspecified PRKRA +OMIM:603427 skos:exactMatch HGNC:8847 Unspecified PER3 +OMIM:603427 skos:exactMatch HGNC_symbol:PER3 Unspecified PER3 +OMIM:603427 skos:exactMatch UMLS:C1418466 Unspecified PER3 +OMIM:603426 skos:exactMatch HGNC:8846 Unspecified PER2 +OMIM:603426 skos:exactMatch HGNC_symbol:PER2 Unspecified PER2 +OMIM:603426 skos:exactMatch UMLS:C1418465 Unspecified PER2 +OMIM:603429 skos:exactMatch HGNC:70 Unspecified ABCF1 +OMIM:603429 skos:exactMatch UMLS:C1412093 Unspecified ABCF1 +OMIM:603429 skos:exactMatch HGNC_symbol:ABCF1 Unspecified ABCF1 +OMIM:168468 skos:exactMatch UMLS:C0265295 Unspecified PTH1R +OMIM:168468 skos:exactMatch UMLS:C1838779 Unspecified PTH1R +OMIM:168468 skos:exactMatch UMLS:C1852222 Unspecified PTH1R +OMIM:168468 skos:exactMatch HGNC:9608 Unspecified PTH1R +OMIM:168468 skos:exactMatch UMLS:C1859148 Unspecified PTH1R +OMIM:168468 skos:exactMatch HGNC_symbol:PTH1R Unspecified PTH1R +OMIM:168468 skos:exactMatch UMLS:C1419073 Unspecified PTH1R +OMIM:181400 skos:exactMatch UMLS:C1867005 Unspecified scapuloperoneal syndrome, neurogenic, kaeser iia +OMIM:603428 skos:exactMatch HGNC:12998 Unspecified ZNF207 +OMIM:603428 skos:exactMatch UMLS:C1421695 Unspecified ZNF207 +OMIM:603428 skos:exactMatch HGNC_symbol:ZNF207 Unspecified ZNF207 +OMIM:168461 skos:exactMatch HGNC:1582 Unspecified CCND1 +OMIM:168461 skos:exactMatch UMLS:C1413172 Unspecified CCND1 +OMIM:168461 skos:exactMatch HGNC_symbol:CCND1 Unspecified CCND1 +OMIM:168461 skos:exactMatch UMLS:C1868611 Unspecified CCND1 +OMIM:615410 skos:exactMatch HGNC_symbol:MRAP2 Unspecified MRAP2 +OMIM:615410 skos:exactMatch UMLS:C2681839 Unspecified MRAP2 +OMIM:615410 skos:exactMatch HGNC:21232 Unspecified MRAP2 +OMIM:615411 skos:exactMatch UMLS:C3809414 Unspecified cortical dysplasia, complex, with other brain malformations 3 +OMIM:168470 skos:exactMatch HGNC:9607 Unspecified PTHLH +OMIM:168470 skos:exactMatch UMLS:C1335272 Unspecified PTHLH +OMIM:168470 skos:exactMatch HGNC_symbol:PTHLH Unspecified PTHLH +OMIM:615401 skos:exactMatch UMLS:C3809383 Unspecified immunodeficiency 8 +OMIM:615402 skos:exactMatch UMLS:C3809394 Unspecified dyschromatosis universalis hereditaria 3 +OMIM:615403 skos:exactMatch HGNC_symbol:THOC6 Unspecified THOC6 +OMIM:615403 skos:exactMatch UMLS:C3150939 Unspecified THOC6 +OMIM:615403 skos:exactMatch UMLS:C1823273 Unspecified THOC6 +OMIM:615403 skos:exactMatch HGNC:28369 Unspecified THOC6 +OMIM:615404 skos:exactMatch HGNC:26230 Unspecified TM4SF20 +OMIM:615404 skos:exactMatch UMLS:C1539976 Unspecified TM4SF20 +OMIM:615404 skos:exactMatch HGNC_symbol:TM4SF20 Unspecified TM4SF20 +OMIM:615405 skos:exactMatch UMLS:C1426313 Unspecified GNG12 +OMIM:615405 skos:exactMatch HGNC_symbol:GNG12 Unspecified GNG12 +OMIM:615405 skos:exactMatch HGNC:19663 Unspecified GNG12 +OMIM:615406 skos:exactMatch HGNC:43938 Unspecified GNG12AS1 +OMIM:615406 skos:exactMatch HGNC_symbol:GNG12-AS1 Unspecified GNG12AS1 +OMIM:615406 skos:exactMatch UMLS:C3809404 Unspecified GNG12AS1 +OMIM:615407 skos:exactMatch UMLS:C4747737 Unspecified ARL2BP +OMIM:615407 skos:exactMatch UMLS:C1424778 Unspecified ARL2BP +OMIM:615407 skos:exactMatch HGNC_symbol:ARL2BP Unspecified ARL2BP +OMIM:615407 skos:exactMatch UMLS:C4749131 Unspecified ARL2BP +OMIM:615407 skos:exactMatch HGNC:17146 Unspecified ARL2BP +OMIM:615408 skos:exactMatch HGNC:25583 Unspecified ODAD2 +OMIM:615408 skos:exactMatch HGNC_symbol:ODAD2 Unspecified ODAD2 +OMIM:615408 skos:exactMatch UMLS:C1428503 Unspecified ODAD2 +OMIM:615409 skos:exactMatch HGNC:26463 Unspecified SPATA33 +OMIM:615409 skos:exactMatch UMLS:C1540254 Unspecified SPATA33 +OMIM:615409 skos:exactMatch HGNC_symbol:SPATA33 Unspecified SPATA33 +OMIM:181405 skos:exactMatch UMLS:C0751335 Unspecified scapuloperoneal spinal muscular atrophy +OMIM:603430 skos:exactMatch HGNC:12994 Unspecified ZNF202 +OMIM:603430 skos:exactMatch UMLS:C1421691 Unspecified ZNF202 +OMIM:603430 skos:exactMatch HGNC_symbol:ZNF202 Unspecified ZNF202 +OMIM:603432 skos:exactMatch HGNC_symbol:CLIP2 Unspecified CLIP2 +OMIM:603432 skos:exactMatch HGNC:2586 Unspecified CLIP2 +OMIM:603432 skos:exactMatch UMLS:C1824747 Unspecified CLIP2 +OMIM:156490 skos:exactMatch HGNC:7849 Unspecified NME1 +OMIM:156490 skos:exactMatch UMLS:C0812204 Unspecified NME1 +OMIM:156490 skos:exactMatch HGNC_symbol:NME1 Unspecified NME1 +OMIM:603431 skos:exactMatch HGNC:12741 Unspecified EIF4H +OMIM:603431 skos:exactMatch UMLS:C1825047 Unspecified EIF4H +OMIM:603431 skos:exactMatch HGNC_symbol:EIF4H Unspecified EIF4H +OMIM:156491 skos:exactMatch HGNC_symbol:NME2 Unspecified NME2 +OMIM:156491 skos:exactMatch HGNC:7850 Unspecified NME2 +OMIM:156491 skos:exactMatch UMLS:C1417741 Unspecified NME2 +OMIM:603412 skos:exactMatch UMLS:C1413264 Unspecified CDC42BPA +OMIM:603412 skos:exactMatch HGNC_symbol:CDC42BPA Unspecified CDC42BPA +OMIM:603412 skos:exactMatch HGNC:1737 Unspecified CDC42BPA +OMIM:603411 skos:exactMatch UMLS:C1414436 Unspecified EPR1 +OMIM:603414 skos:exactMatch HGNC:11863 Unspecified TM7SF2 +OMIM:603414 skos:exactMatch HGNC_symbol:TM7SF2 Unspecified TM7SF2 +OMIM:603414 skos:exactMatch UMLS:C1420771 Unspecified TM7SF2 +OMIM:603413 skos:exactMatch HGNC_symbol:TIAL1 Unspecified TIAL1 +OMIM:603413 skos:exactMatch HGNC:11804 Unspecified TIAL1 +OMIM:603413 skos:exactMatch UMLS:C1420731 Unspecified TIAL1 +OMIM:603416 skos:exactMatch UMLS:C1863884 Unspecified ribosomal protein l21 pseudogene 1 +OMIM:603416 skos:exactMatch HGNC:10314 Unspecified ribosomal protein l21 pseudogene 1 +OMIM:603416 skos:exactMatch HGNC_symbol:RPL21P1 Unspecified ribosomal protein l21 pseudogene 1 +OMIM:603415 skos:exactMatch UMLS:C3276706 Unspecified SCN9A +OMIM:603415 skos:exactMatch UMLS:C1833661 Unspecified SCN9A +OMIM:603415 skos:exactMatch HGNC_symbol:SCN9A Unspecified SCN9A +OMIM:603415 skos:exactMatch UMLS:C0014805 Unspecified SCN9A +OMIM:603415 skos:exactMatch UMLS:C1419867 Unspecified SCN9A +OMIM:603415 skos:exactMatch UMLS:C4015968 Unspecified SCN9A +OMIM:603415 skos:exactMatch HGNC:10597 Unspecified SCN9A +OMIM:603415 skos:exactMatch UMLS:C1855739 Unspecified SCN9A +OMIM:603415 skos:exactMatch UMLS:C4012054 Unspecified SCN9A +OMIM:603418 skos:exactMatch UMLS:C1332073 Unspecified AKR7A2 +OMIM:603418 skos:exactMatch HGNC_symbol:AKR7A2 Unspecified AKR7A2 +OMIM:603418 skos:exactMatch HGNC:389 Unspecified AKR7A2 +OMIM:603417 skos:exactMatch HGNC_symbol:RABIF Unspecified RABIF +OMIM:603417 skos:exactMatch HGNC:9797 Unspecified RABIF +OMIM:603417 skos:exactMatch UMLS:C1419224 Unspecified RABIF +OMIM:603419 skos:exactMatch HGNC_symbol:SGTA Unspecified SGTA +OMIM:603419 skos:exactMatch UMLS:C1420016 Unspecified SGTA +OMIM:603419 skos:exactMatch HGNC:10819 Unspecified SGTA +OMIM:168450 skos:exactMatch UMLS:C0221002 Unspecified PTH +OMIM:168450 skos:exactMatch UMLS:C5241444 Unspecified PTH +OMIM:168450 skos:exactMatch HGNC:9606 Unspecified PTH +OMIM:168450 skos:exactMatch HGNC_symbol:PTH Unspecified PTH +OMIM:168450 skos:exactMatch UMLS:C1419072 Unspecified PTH +OMIM:615400 skos:exactMatch UMLS:C3809374 Unspecified epilepsy, familial adult myoclonic, 5 +OMIM:252250 skos:exactMatch UMLS:C1854982 Unspecified monocyte chemotactic disorder +OMIM:276200 skos:exactMatch UMLS:C1848724 Unspecified t-substance anomaly +OMIM:603421 skos:exactMatch HGNC:11866 Unspecified TMEFF1 +OMIM:603421 skos:exactMatch HGNC_symbol:TMEFF1 Unspecified TMEFF1 +OMIM:603421 skos:exactMatch UMLS:C1420774 Unspecified TMEFF1 +OMIM:603420 skos:exactMatch HGNC_symbol:CALU Unspecified CALU +OMIM:603420 skos:exactMatch HGNC:1458 Unspecified CALU +OMIM:603420 skos:exactMatch UMLS:C1413097 Unspecified CALU +OMIM:603489 skos:exactMatch HGNC_symbol:CILP Unspecified CILP +OMIM:603489 skos:exactMatch HGNC:1980 Unspecified CILP +OMIM:603489 skos:exactMatch UMLS:C1413425 Unspecified CILP +OMIM:181460 skos:exactMatch UMLS:C1866993 Unspecified schistosoma mansoni infection, susceptibility/resistance to +OMIM:603488 skos:exactMatch HGNC:18 Unspecified AAMP +OMIM:603488 skos:exactMatch UMLS:C1412052 Unspecified AAMP +OMIM:603488 skos:exactMatch HGNC_symbol:AAMP Unspecified AAMP +OMIM:615470 skos:exactMatch HGNC_symbol:CEP89 Unspecified CEP89 +OMIM:615470 skos:exactMatch HGNC:25907 Unspecified CEP89 +OMIM:615470 skos:exactMatch UMLS:C1824650 Unspecified CEP89 +OMIM:615471 skos:exactMatch UMLS:C3809592 Unspecified mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) +OMIM:615472 skos:exactMatch UMLS:C1413615 Unspecified COPZ1 +OMIM:615472 skos:exactMatch HGNC_symbol:COPZ1 Unspecified COPZ1 +OMIM:615472 skos:exactMatch HGNC:2243 Unspecified COPZ1 +OMIM:615473 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 17 +OMIM:615473 skos:exactMatch UMLS:C3809606 Unspecified developmental and epileptic encephalopathy 17 +OMIM:615474 skos:exactMatch UMLS:C3809609 Unspecified primary aldosteronism, seizures, and neurologic abnormalities +OMIM:311000 skos:exactMatch UMLS:C1839577 Unspecified ophthalmoplegia, external, and myopia +OMIM:615475 skos:exactMatch HGNC:16719 Unspecified DHX34 +OMIM:615475 skos:exactMatch UMLS:C1424505 Unspecified DHX34 +OMIM:615475 skos:exactMatch HGNC_symbol:DHX34 Unspecified DHX34 +OMIM:615476 skos:exactMatch UMLS:C3809624 Unspecified developmental and epileptic encephalopathy 18 +OMIM:615476 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 18 +OMIM:615477 skos:exactMatch HGNC_symbol:NYAP1 Unspecified NYAP1 +OMIM:615477 skos:exactMatch UMLS:C3471330 Unspecified NYAP1 +OMIM:615477 skos:exactMatch HGNC:22009 Unspecified NYAP1 +OMIM:615467 skos:exactMatch HGNC:28116 Unspecified GLTPD1 +OMIM:615467 skos:exactMatch HGNC_symbol:CPTP Unspecified GLTPD1 +OMIM:615467 skos:exactMatch UMLS:C2239498 Unspecified GLTPD1 +OMIM:615468 skos:exactMatch UMLS:C3809583 Unspecified immunodeficiency 12 +OMIM:615468 skos:exactMatch ORPHA:397964 Unspecified immunodeficiency 12 +OMIM:615469 skos:exactMatch HGNC_symbol:MIR574 Unspecified MIR574 +OMIM:615469 skos:exactMatch HGNC:32830 Unspecified MIR574 +OMIM:615469 skos:exactMatch UMLS:C1826153 Unspecified MIR574 +OMIM:227270 skos:exactMatch UMLS:C1856891 Unspecified faciocardiomelic dysplasia, lethal +OMIM:603490 skos:exactMatch HGNC:12783 Unspecified WNT4 +OMIM:603490 skos:exactMatch UMLS:C1337002 Unspecified WNT4 +OMIM:603490 skos:exactMatch HGNC_symbol:WNT4 Unspecified WNT4 +OMIM:278850 skos:exactMatch UMLS:C2749215 Unspecified 46,xx sex reversal 2 +OMIM:603492 skos:exactMatch UMLS:C1420084 Unspecified SLAMF1 +OMIM:603492 skos:exactMatch HGNC_symbol:SLAMF1 Unspecified SLAMF1 +OMIM:603492 skos:exactMatch HGNC:10903 Unspecified SLAMF1 +OMIM:603491 skos:exactMatch HGNC:5950 Unspecified IGSF3 +OMIM:603491 skos:exactMatch UMLS:C1416372 Unspecified IGSF3 +OMIM:603491 skos:exactMatch HGNC_symbol:IGSF3 Unspecified IGSF3 +OMIM:603494 skos:exactMatch HGNC_symbol:URI1 Unspecified URI1 +OMIM:603494 skos:exactMatch HGNC:13236 Unspecified URI1 +OMIM:603494 skos:exactMatch UMLS:C1421895 Unspecified URI1 +OMIM:603493 skos:exactMatch HGNC:6280 Unspecified KCNK5 +OMIM:603493 skos:exactMatch UMLS:C1456384 Unspecified KCNK5 +OMIM:603493 skos:exactMatch HGNC_symbol:KCNK5 Unspecified KCNK5 +OMIM:603496 skos:exactMatch UMLS:C1414206 Unspecified DYRK2 +OMIM:603496 skos:exactMatch HGNC_symbol:DYRK2 Unspecified DYRK2 +OMIM:603496 skos:exactMatch HGNC:3093 Unspecified DYRK2 +OMIM:603495 skos:exactMatch HGNC:11391 Unspecified AURKC +OMIM:603495 skos:exactMatch UMLS:C1420465 Unspecified AURKC +OMIM:603495 skos:exactMatch UMLS:C0403812 Unspecified AURKC +OMIM:603495 skos:exactMatch HGNC_symbol:AURKC Unspecified AURKC +OMIM:603498 skos:exactMatch HGNC_symbol:SMPD2 Unspecified SMPD2 +OMIM:603498 skos:exactMatch HGNC:11121 Unspecified SMPD2 +OMIM:603498 skos:exactMatch UMLS:C1420260 Unspecified SMPD2 +OMIM:603497 skos:exactMatch UMLS:C1414207 Unspecified DYRK3 +OMIM:603497 skos:exactMatch HGNC_symbol:DYRK3 Unspecified DYRK3 +OMIM:603497 skos:exactMatch HGNC:3094 Unspecified DYRK3 +OMIM:603478 skos:exactMatch UMLS:C1421386 Unspecified USP1 +OMIM:603478 skos:exactMatch HGNC_symbol:USP1 Unspecified USP1 +OMIM:603478 skos:exactMatch HGNC:12607 Unspecified USP1 +OMIM:603477 skos:exactMatch HGNC_symbol:BUD31 Unspecified BUD31 +OMIM:603477 skos:exactMatch UMLS:C1823197 Unspecified BUD31 +OMIM:603477 skos:exactMatch HGNC:29629 Unspecified BUD31 +OMIM:603479 skos:exactMatch HGNC:3154 Unspecified ECM2 +OMIM:603479 skos:exactMatch HGNC_symbol:ECM2 Unspecified ECM2 +OMIM:603479 skos:exactMatch UMLS:C1414249 Unspecified ECM2 +OMIM:615460 skos:exactMatch UMLS:C3809571 Unspecified TRDD@ +OMIM:615461 skos:exactMatch UMLS:C3809572 Unspecified TRDJ@ +OMIM:615462 skos:exactMatch HGNC:21862 Unspecified WDR60 +OMIM:615462 skos:exactMatch UMLS:C1538104 Unspecified WDR60 +OMIM:615462 skos:exactMatch HGNC_symbol:DYNC2I1 Unspecified WDR60 +OMIM:227255 skos:exactMatch UMLS:C1856892 Unspecified facial dysmorphism with multiple malformations +OMIM:615463 skos:exactMatch HGNC:29040 Unspecified SZT2 +OMIM:615463 skos:exactMatch UMLS:C1825662 Unspecified SZT2 +OMIM:615463 skos:exactMatch UMLS:C3809624 Unspecified SZT2 +OMIM:615463 skos:exactMatch UMLS:C2986382 Unspecified SZT2 +OMIM:615463 skos:exactMatch HGNC_symbol:SZT2 Unspecified SZT2 +OMIM:615464 skos:exactMatch HGNC_symbol:DDX59 Unspecified DDX59 +OMIM:615464 skos:exactMatch HGNC:25360 Unspecified DDX59 +OMIM:615464 skos:exactMatch UMLS:C1539234 Unspecified DDX59 +OMIM:615464 skos:exactMatch UMLS:C1868118 Unspecified DDX59 +OMIM:311010 skos:exactMatch HGNC:646 Unspecified ARAF1 +OMIM:311010 skos:exactMatch HGNC_symbol:ARAF Unspecified ARAF1 +OMIM:311010 skos:exactMatch UMLS:C1538917 Unspecified ARAF1 +OMIM:615465 skos:exactMatch UMLS:C1845146 Unspecified hartsfield syndrome +OMIM:615466 skos:exactMatch HGNC_symbol:TLNRD1 Unspecified TLNRD1 +OMIM:615466 skos:exactMatch HGNC:13519 Unspecified TLNRD1 +OMIM:615466 skos:exactMatch UMLS:C1422032 Unspecified TLNRD1 +OMIM:615456 skos:exactMatch HGNC_symbol:ELMOD1 Unspecified ELMOD1 +OMIM:615456 skos:exactMatch HGNC:25334 Unspecified ELMOD1 +OMIM:615456 skos:exactMatch UMLS:C1539353 Unspecified ELMOD1 +OMIM:227260 skos:exactMatch UMLS:C1744559 Unspecified focal facial dermal dysplasia 3, setleis iia +OMIM:615457 skos:exactMatch UMLS:C3714940 Unspecified body mass index quantitative trait locus 18 +OMIM:615458 skos:exactMatch UMLS:C3809567 Unspecified microcornea, myopic chorioretinal atrophy, and telecanthus +OMIM:615459 skos:exactMatch UMLS:C3809570 Unspecified TRDV@ +OMIM:603481 skos:exactMatch HGNC_symbol:PSMD13 Unspecified PSMD13 +OMIM:603481 skos:exactMatch HGNC:9558 Unspecified PSMD13 +OMIM:603481 skos:exactMatch UMLS:C1419031 Unspecified PSMD13 +OMIM:603483 skos:exactMatch UMLS:C1414354 Unspecified EIF4EBP3 +OMIM:603483 skos:exactMatch HGNC_symbol:EIF4EBP3 Unspecified EIF4EBP3 +OMIM:603483 skos:exactMatch HGNC:3290 Unspecified EIF4EBP3 +OMIM:603482 skos:exactMatch UMLS:C1412851 Unspecified BTRC +OMIM:603482 skos:exactMatch HGNC_symbol:BTRC Unspecified BTRC +OMIM:603482 skos:exactMatch HGNC:1144 Unspecified BTRC +OMIM:603485 skos:exactMatch HGNC:15910 Unspecified NFS1 +OMIM:603485 skos:exactMatch UMLS:C1423825 Unspecified NFS1 +OMIM:603485 skos:exactMatch HGNC_symbol:NFS1 Unspecified NFS1 +OMIM:603484 skos:exactMatch HGNC:9341 Unspecified PRC1 +OMIM:603484 skos:exactMatch UMLS:C1418870 Unspecified PRC1 +OMIM:603484 skos:exactMatch HGNC_symbol:PRC1 Unspecified PRC1 +OMIM:603487 skos:exactMatch HGNC:7571 Unspecified MYH13 +OMIM:603487 skos:exactMatch UMLS:C1417536 Unspecified MYH13 +OMIM:603487 skos:exactMatch HGNC_symbol:MYH13 Unspecified MYH13 +OMIM:193450 skos:exactMatch UMLS:C1860357 Unspecified vulvovaginitis, allergic seminal +OMIM:603486 skos:exactMatch HGNC_symbol:USP4 Unspecified USP4 +OMIM:603486 skos:exactMatch HGNC:12627 Unspecified USP4 +OMIM:603486 skos:exactMatch UMLS:C1421405 Unspecified USP4 +OMIM:242880 skos:exactMatch UMLS:C0272167 Unspecified immunoerythromyeloid hypoplasia +OMIM:603467 skos:exactMatch UMLS:C3469526 Unspecified fanconi anemia, complementation group f +OMIM:603466 skos:exactMatch HGNC_symbol:ELAVL1 Unspecified ELAVL1 +OMIM:603466 skos:exactMatch HGNC:3312 Unspecified ELAVL1 +OMIM:603466 skos:exactMatch UMLS:C1414371 Unspecified ELAVL1 +OMIM:181440 skos:exactMatch UMLS:C0036310 Unspecified scheuermann disease +OMIM:615450 skos:exactMatch HGNC:12276 Unspecified TRGC2 +OMIM:615450 skos:exactMatch UMLS:C1421121 Unspecified TRGC2 +OMIM:615450 skos:exactMatch HGNC_symbol:TRGC2 Unspecified TRGC2 +OMIM:615451 skos:exactMatch UMLS:C3809548 Unspecified ciliary dyskinesia, primary, 23 +OMIM:615452 skos:exactMatch HGNC:48942 Unspecified PRNCR1 +OMIM:615452 skos:exactMatch UMLS:C3809552 Unspecified PRNCR1 +OMIM:615452 skos:exactMatch HGNC_symbol:PRNCR1 Unspecified PRNCR1 +OMIM:615453 skos:exactMatch UMLS:C3809553 Unspecified mitochondrial complex 3 deficiency, nuclear iia 6 +OMIM:615454 skos:exactMatch UMLS:C3809564 Unspecified TRGV@ +OMIM:615455 skos:exactMatch UMLS:C3809565 Unspecified TRGJ@ +OMIM:615445 skos:exactMatch UMLS:C1421009 Unspecified TRBC2 +OMIM:615445 skos:exactMatch HGNC_symbol:TRBC2 Unspecified TRBC2 +OMIM:615445 skos:exactMatch HGNC:12157 Unspecified TRBC2 +OMIM:615446 skos:exactMatch UMLS:C3809546 Unspecified TRBV@ +OMIM:615447 skos:exactMatch UMLS:C1421010 Unspecified TRBD1 +OMIM:615447 skos:exactMatch HGNC_symbol:TRBD1 Unspecified TRBD1 +OMIM:615447 skos:exactMatch HGNC:12158 Unspecified TRBD1 +OMIM:615448 skos:exactMatch HGNC_symbol:TRBD2 Unspecified TRBD2 +OMIM:615448 skos:exactMatch UMLS:C1421011 Unspecified TRBD2 +OMIM:615448 skos:exactMatch HGNC:12159 Unspecified TRBD2 +OMIM:615449 skos:exactMatch UMLS:C3809547 Unspecified TRBJ@ +OMIM:603470 skos:exactMatch HGNC:758 Unspecified ASS1 +OMIM:603470 skos:exactMatch HGNC_symbol:ASS1 Unspecified ASS1 +OMIM:603470 skos:exactMatch UMLS:C1825092 Unspecified ASS1 +OMIM:603472 skos:exactMatch ORPHA:2289 Unspecified neuronal intranuclear inclusion disease +OMIM:603472 skos:exactMatch UMLS:C1863843 Unspecified neuronal intranuclear inclusion disease +OMIM:603471 skos:exactMatch UMLS:C1863844 Unspecified citrullinemia, iia ii, adult-onset +OMIM:603474 skos:exactMatch UMLS:C1335641 Unspecified RPS19 +OMIM:603474 skos:exactMatch HGNC_symbol:RPS19 Unspecified RPS19 +OMIM:603474 skos:exactMatch HGNC:10402 Unspecified RPS19 +OMIM:603473 skos:exactMatch UMLS:C1367460 Unspecified LATS1 +OMIM:603473 skos:exactMatch HGNC:6514 Unspecified LATS1 +OMIM:603473 skos:exactMatch HGNC_symbol:LATS1 Unspecified LATS1 +OMIM:603476 skos:exactMatch HGNC:2350 Unspecified CREBL2 +OMIM:603476 skos:exactMatch UMLS:C1332780 Unspecified CREBL2 +OMIM:603476 skos:exactMatch HGNC_symbol:CREBL2 Unspecified CREBL2 +OMIM:603475 skos:exactMatch UMLS:C1413399 Unspecified CHRD +OMIM:603475 skos:exactMatch HGNC:1949 Unspecified CHRD +OMIM:603475 skos:exactMatch HGNC_symbol:CHRD Unspecified CHRD +OMIM:603456 skos:exactMatch HGNC:3004 Unspecified DPH2 +OMIM:603456 skos:exactMatch UMLS:C1824960 Unspecified DPH2 +OMIM:603456 skos:exactMatch HGNC_symbol:DPH2 Unspecified DPH2 +OMIM:603455 skos:exactMatch HGNC:10020 Unspecified RIPK2 +OMIM:603455 skos:exactMatch UMLS:C1335624 Unspecified RIPK2 +OMIM:603455 skos:exactMatch HGNC_symbol:RIPK2 Unspecified RIPK2 +OMIM:242890 skos:exactMatch UMLS:C1855761 Unspecified immunoglobulin d level 1n plasma, low +OMIM:603458 skos:exactMatch HGNC_symbol:ELAVL3 Unspecified ELAVL3 +OMIM:603458 skos:exactMatch HGNC:3314 Unspecified ELAVL3 +OMIM:603458 skos:exactMatch UMLS:C1414373 Unspecified ELAVL3 +OMIM:181450 skos:exactMatch UMLS:C1866994 Unspecified ulnar-mammary syndrome +OMIM:603457 skos:exactMatch UMLS:C1863878 Unspecified bosma arhinia microphthalmia syndrome +OMIM:615440 skos:exactMatch UMLS:C3809526 Unspecified combined oxidative phosphorylation deficiency 17 +OMIM:615440 skos:exactMatch ORPHA:369913 Unspecified combined oxidative phosphorylation deficiency 17 +OMIM:615441 skos:exactMatch UMLS:C3809536 Unspecified cardiac arrhythmia syndrome, with or without skeletal muscle weakness +OMIM:615442 skos:exactMatch UMLS:C3809541 Unspecified TRAV@ +OMIM:615443 skos:exactMatch UMLS:C3809542 Unspecified TRAJ@ +OMIM:615444 skos:exactMatch UMLS:C3809543 Unspecified ciliary dyskinesia, primary, 22 +OMIM:615434 skos:exactMatch UMLS:C4747737 Unspecified retinitis pigmentosa 82 with or without situs inversus +OMIM:313650 skos:exactMatch HGNC_symbol:TAF1 Unspecified TAF1 +OMIM:313650 skos:exactMatch UMLS:C1336564 Unspecified TAF1 +OMIM:313650 skos:exactMatch UMLS:C0076919 Unspecified TAF1 +OMIM:313650 skos:exactMatch HGNC:11535 Unspecified TAF1 +OMIM:615435 skos:exactMatch HGNC_symbol:ERO1A Unspecified ERO1L +OMIM:615435 skos:exactMatch UMLS:C1421920 Unspecified ERO1L +OMIM:615435 skos:exactMatch HGNC:13280 Unspecified ERO1L +OMIM:615436 skos:exactMatch UMLS:C3809513 Unspecified aortic aneurysm, familial thoracic 8 +OMIM:615437 skos:exactMatch HGNC_symbol:ERO1B Unspecified ERO1LB +OMIM:615437 skos:exactMatch UMLS:C1422588 Unspecified ERO1LB +OMIM:615437 skos:exactMatch HGNC:14355 Unspecified ERO1LB +OMIM:227280 skos:exactMatch UMLS:C0795936 Unspecified faciocardiorenal syndrome +OMIM:615438 skos:exactMatch UMLS:C3809522 Unspecified infantile liver failure syndrome 1 +OMIM:615439 skos:exactMatch UMLS:C3809523 Unspecified macular degeneration, age-related, 13 +OMIM:603461 skos:exactMatch HGNC:1720 Unspecified CDC16 +OMIM:603461 skos:exactMatch HGNC_symbol:CDC16 Unspecified CDC16 +OMIM:603461 skos:exactMatch UMLS:C1413255 Unspecified CDC16 +OMIM:603460 skos:exactMatch HGNC:1775 Unspecified CDK5R1 +OMIM:603460 skos:exactMatch UMLS:C1413285 Unspecified CDK5R1 +OMIM:603460 skos:exactMatch HGNC_symbol:CDK5R1 Unspecified CDK5R1 +OMIM:603462 skos:exactMatch HGNC:1724 Unspecified CDC23 +OMIM:603462 skos:exactMatch UMLS:C1413257 Unspecified CDC23 +OMIM:603462 skos:exactMatch HGNC_symbol:CDC23 Unspecified CDC23 +OMIM:603465 skos:exactMatch HGNC:1739 Unspecified CDC45 +OMIM:603465 skos:exactMatch HGNC_symbol:CDC45 Unspecified CDC45 +OMIM:603465 skos:exactMatch UMLS:C4310738 Unspecified CDC45 +OMIM:603465 skos:exactMatch UMLS:C1332724 Unspecified CDC45 +OMIM:603464 skos:exactMatch HGNC:1770 Unspecified CDK10 +OMIM:603464 skos:exactMatch HGNC_symbol:CDK10 Unspecified CDK10 +OMIM:603464 skos:exactMatch UMLS:C1332730 Unspecified CDK10 +OMIM:229650 skos:exactMatch UMLS:C1856672 Unspecified fructose utilization +OMIM:156190 skos:exactMatch UMLS:C1835028 Unspecified mental and growth retardation with amblyopia +OMIM:254600 skos:exactMatch ORPHA:2587 Unspecified myeloperoxidase deficiency +OMIM:254600 skos:exactMatch UMLS:C0398595 Unspecified myeloperoxidase deficiency +OMIM:242600 skos:exactMatch UMLS:C0268654 Unspecified iminoglycinuria +OMIM:230650 skos:exactMatch UMLS:C0268273 Unspecified gm1-gangliosidosis, iia 3 +OMIM:227010 skos:exactMatch UMLS:C0268501 Unspecified ermine phenotype +OMIM:227010 skos:exactMatch UMLS:C1856899 Unspecified ermine phenotype +OMIM:193100 skos:exactMatch UMLS:C0342642 Unspecified hypophosphatemic rickets, autosomal dominant +OMIM:193100 skos:exactMatch ORPHA:89937 Unspecified hypophosphatemic rickets, autosomal dominant +OMIM:215030 skos:exactMatch UMLS:C0549472 Unspecified cholesterol pneumonia +OMIM:615599 skos:exactMatch ORPHA:397951 Unspecified neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity +OMIM:615599 skos:exactMatch UMLS:C3810080 Unspecified neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity +OMIM:227000 skos:exactMatch UMLS:C1856900 Unspecified erythema of acral regions +OMIM:181180 skos:exactMatch UMLS:C1867023 Unspecified say syndrome +OMIM:120190 skos:exactMatch HGNC_symbol:COL5A2 Unspecified COL5A2 +OMIM:120190 skos:exactMatch HGNC:2210 Unspecified COL5A2 +OMIM:120190 skos:exactMatch UMLS:C1413588 Unspecified COL5A2 +OMIM:229600 skos:exactMatch UMLS:C0016751 Unspecified fructose intolerance, hereditary +OMIM:229600 skos:exactMatch ORPHA:469 Unspecified fructose intolerance, hereditary +OMIM:120180 skos:exactMatch HGNC_symbol:COL3A1 Unspecified COL3A1 +OMIM:120180 skos:exactMatch HGNC:2201 Unspecified COL3A1 +OMIM:120180 skos:exactMatch UMLS:C1413581 Unspecified COL3A1 +OMIM:120160 skos:exactMatch UMLS:C0029458 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C0268358 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C0268362 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C0268363 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C1851801 Unspecified COL1A2 +OMIM:120160 skos:exactMatch HGNC_symbol:COL1A2 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C4310980 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C4310981 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C1332773 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C4015953 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C4015968 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C4303789 Unspecified COL1A2 +OMIM:120160 skos:exactMatch HGNC:2198 Unspecified COL1A2 +OMIM:120160 skos:exactMatch UMLS:C5436847 Unspecified COL1A2 +OMIM:120165 skos:exactMatch UMLS:C1413578 Unspecified COL19A1 +OMIM:120165 skos:exactMatch HGNC_symbol:COL19A1 Unspecified COL19A1 +OMIM:120165 skos:exactMatch HGNC:2196 Unspecified COL19A1 +OMIM:203000 skos:exactMatch UMLS:C1859964 Unspecified frontonasal dysplasia with alar clefts +OMIM:120150 skos:exactMatch UMLS:C0023931 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C0029434 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C0268358 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C0268363 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C0268362 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C0020497 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C4551623 Unspecified COL1A1 +OMIM:120150 skos:exactMatch HGNC_symbol:COL1A1 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C1332772 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C4225429 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C4015948 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C4015949 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C4015952 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C4015950 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C4015951 Unspecified COL1A1 +OMIM:120150 skos:exactMatch HGNC:2197 Unspecified COL1A1 +OMIM:120150 skos:exactMatch UMLS:C5436842 Unspecified COL1A1 +OMIM:230600 skos:exactMatch UMLS:C1968746 Unspecified gm1-gangliosidosis, iia 2 +OMIM:230600 skos:exactMatch UMLS:C0268272 Unspecified gm1-gangliosidosis, iia 2 +OMIM:120140 skos:exactMatch UMLS:C1836081 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C1836080 Unspecified COL2A1 +OMIM:120140 skos:exactMatch HGNC:2200 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C1836683 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C0220685 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C1835437 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C2745959 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C0796173 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C1413580 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C1851536 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C1852989 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C4551562 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C2020284 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C0700635 Unspecified COL2A1 +OMIM:120140 skos:exactMatch HGNC_symbol:COL2A1 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C0542428 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C0265279 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C4225640 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C0023234 Unspecified COL2A1 +OMIM:120140 skos:exactMatch UMLS:C0432214 Unspecified COL2A1 +OMIM:120131 skos:exactMatch HGNC:2206 Unspecified COL4A4 +OMIM:120131 skos:exactMatch UMLS:C1413585 Unspecified COL4A4 +OMIM:120131 skos:exactMatch HGNC_symbol:COL4A4 Unspecified COL4A4 +OMIM:120130 skos:exactMatch UMLS:C1867327 Unspecified COL4A1 +OMIM:120130 skos:exactMatch HGNC:2202 Unspecified COL4A1 +OMIM:120130 skos:exactMatch UMLS:C3281105 Unspecified COL4A1 +OMIM:120130 skos:exactMatch UMLS:C2673195 Unspecified COL4A1 +OMIM:120130 skos:exactMatch UMLS:C1413582 Unspecified COL4A1 +OMIM:120130 skos:exactMatch HGNC_symbol:COL4A1 Unspecified COL4A1 +OMIM:120130 skos:exactMatch UMLS:C5231411 Unspecified COL4A1 +OMIM:120130 skos:exactMatch UMLS:C5193158 Unspecified COL4A1 +OMIM:120130 skos:exactMatch UMLS:C5193157 Unspecified COL4A1 +OMIM:120120 skos:exactMatch HGNC:2214 Unspecified COL7A1 +OMIM:120120 skos:exactMatch UMLS:C1413592 Unspecified COL7A1 +OMIM:120120 skos:exactMatch HGNC_symbol:COL7A1 Unspecified COL7A1 +OMIM:122780 skos:exactMatch UMLS:C1852513 Unspecified coxoauricular syndrome +OMIM:120110 skos:exactMatch HGNC:2185 Unspecified COL10A1 +OMIM:120110 skos:exactMatch UMLS:C1413569 Unspecified COL10A1 +OMIM:120110 skos:exactMatch HGNC_symbol:COL10A1 Unspecified COL10A1 +OMIM:193190 skos:exactMatch UMLS:C1336937 Unspecified VTN +OMIM:193190 skos:exactMatch HGNC_symbol:VTN Unspecified VTN +OMIM:193190 skos:exactMatch HGNC:12724 Unspecified VTN +OMIM:217600 skos:exactMatch UMLS:C1622427 Unspecified central cloudy dystrophy of francois +OMIM:120100 skos:exactMatch UMLS:C4551895 Unspecified familial cold autoinflammatory syndrome 1 +OMIM:120100 skos:exactMatch UMLS:C0343068 Unspecified familial cold autoinflammatory syndrome 1 +OMIM:120105 skos:exactMatch HGNC_symbol:CLPS Unspecified CLPS +OMIM:120105 skos:exactMatch UMLS:C1413505 Unspecified CLPS +OMIM:120105 skos:exactMatch HGNC:2085 Unspecified CLPS +OMIM:122750 skos:exactMatch UMLS:C0239138 Unspecified coxa vara +OMIM:109770 skos:exactMatch HGNC:1814 Unspecified CEACAM1 +OMIM:109770 skos:exactMatch UMLS:C1413306 Unspecified CEACAM1 +OMIM:109770 skos:exactMatch UMLS:C1862279 Unspecified CEACAM1 +OMIM:109770 skos:exactMatch HGNC_symbol:CEACAM1 Unspecified CEACAM1 +OMIM:119100 skos:exactMatch UMLS:C4551989 Unspecified split-hand/foot malformation with long bone deficiency 1 +OMIM:119100 skos:exactMatch UMLS:C1861553 Unspecified split-hand/foot malformation with long bone deficiency 1 +OMIM:109780 skos:exactMatch UMLS:C1862276 Unspecified bkm DNA +OMIM:110750 skos:exactMatch UMLS:C4017662 Unspecified GYPC +OMIM:110750 skos:exactMatch HGNC:4704 Unspecified GYPC +OMIM:110750 skos:exactMatch UMLS:C1415375 Unspecified GYPC +OMIM:110750 skos:exactMatch HGNC_symbol:GYPC Unspecified GYPC +OMIM:134820 skos:exactMatch HGNC_symbol:FGA Unspecified FGA +OMIM:134820 skos:exactMatch UMLS:C1414592 Unspecified FGA +OMIM:134820 skos:exactMatch HGNC:3661 Unspecified FGA +OMIM:146800 skos:exactMatch UMLS:C0432306 Unspecified ichthyosis bullosa of siemens +OMIM:146800 skos:exactMatch ORPHA:455 Unspecified ichthyosis bullosa of siemens +OMIM:134720 skos:exactMatch UMLS:C1851318 Unspecified fecundity gene, booroola, of sheep, homolog of +OMIM:146700 skos:exactMatch UMLS:C0079584 Unspecified ichthyosis vulgaris +OMIM:146710 skos:exactMatch UMLS:C1334115 Unspecified IL2RB +OMIM:146710 skos:exactMatch HGNC:6009 Unspecified IL2RB +OMIM:146710 skos:exactMatch HGNC_symbol:IL2RB Unspecified IL2RB +OMIM:107200 skos:exactMatch UMLS:C0393778 Unspecified anosmia, isolated congenital +OMIM:146720 skos:exactMatch UMLS:C1840283 Unspecified ichthyosis--cheek--eyebrow syndrome +OMIM:603522 skos:exactMatch HGNC_symbol:SNRPC Unspecified SNRPC +OMIM:603522 skos:exactMatch HGNC:11157 Unspecified SNRPC +OMIM:603522 skos:exactMatch UMLS:C1420288 Unspecified SNRPC +OMIM:603521 skos:exactMatch HGNC_symbol:SNRPA1 Unspecified SNRPA1 +OMIM:603521 skos:exactMatch HGNC:11152 Unspecified SNRPA1 +OMIM:603521 skos:exactMatch UMLS:C1420284 Unspecified SNRPA1 +OMIM:603524 skos:exactMatch HGNC:1914 Unspecified RCBTB2 +OMIM:603524 skos:exactMatch UMLS:C1826785 Unspecified RCBTB2 +OMIM:603524 skos:exactMatch HGNC_symbol:RCBTB2 Unspecified RCBTB2 +OMIM:603523 skos:exactMatch UMLS:C0340014 Unspecified chylothorax, congenital +OMIM:603526 skos:exactMatch HGNC:7410 Unspecified MTA1 +OMIM:603526 skos:exactMatch HGNC_symbol:MTA1 Unspecified MTA1 +OMIM:603526 skos:exactMatch UMLS:C1417405 Unspecified MTA1 +OMIM:603525 skos:exactMatch HGNC_symbol:NMI Unspecified NMI +OMIM:603525 skos:exactMatch HGNC:7854 Unspecified NMI +OMIM:603525 skos:exactMatch UMLS:C1334885 Unspecified NMI +OMIM:134750 skos:exactMatch UMLS:C0015773 Unspecified felty syndrome +OMIM:603527 skos:exactMatch UMLS:C1824959 Unspecified DPH1 +OMIM:603527 skos:exactMatch HGNC_symbol:DPH1 Unspecified DPH1 +OMIM:603527 skos:exactMatch HGNC:3003 Unspecified DPH1 +OMIM:603529 skos:exactMatch UMLS:C3807235 Unspecified dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin +OMIM:615510 skos:exactMatch UMLS:C3809738 Unspecified alacrima, achalasia, and mental retardation syndrome +OMIM:615500 skos:exactMatch UMLS:C3809684 Unspecified ciliary dyskinesia, primary, 26 +OMIM:615500 skos:exactMatch ORPHA:244 Unspecified ciliary dyskinesia, primary, 26 +OMIM:615501 skos:exactMatch UMLS:C1854990 Unspecified molybdenum cofactor deficiency, complementation group c +OMIM:615502 skos:exactMatch UMLS:C3809686 Unspecified intellectual developmental disorder, autosomal dominant 21 +OMIM:615503 skos:exactMatch UMLS:C3809691 Unspecified short-rib thoracic dysplasia 8 with or without polydactyly +OMIM:146730 skos:exactMatch HGNC_symbol:IGFBP1 Unspecified IGFBP1 +OMIM:146730 skos:exactMatch HGNC:5469 Unspecified IGFBP1 +OMIM:146730 skos:exactMatch UMLS:C1334092 Unspecified IGFBP1 +OMIM:615504 skos:exactMatch UMLS:C3809701 Unspecified ciliary dyskinesia, primary, 27 +OMIM:146731 skos:exactMatch HGNC:5471 Unspecified IGFBP2 +OMIM:146731 skos:exactMatch HGNC_symbol:IGFBP2 Unspecified IGFBP2 +OMIM:146731 skos:exactMatch UMLS:C1334093 Unspecified IGFBP2 +OMIM:615505 skos:exactMatch UMLS:C3809706 Unspecified ciliary dyskinesia, primary, 28 +OMIM:615506 skos:exactMatch UMLS:C3809710 Unspecified telangiectasia, hereditary hemorrhagic, iia 5 +OMIM:615507 skos:exactMatch UMLS:C1425233 Unspecified NISCH +OMIM:615507 skos:exactMatch HGNC_symbol:NISCH Unspecified NISCH +OMIM:615507 skos:exactMatch HGNC:18006 Unspecified NISCH +OMIM:146734 skos:exactMatch HGNC_symbol:IGFBP5 Unspecified IGFBP5 +OMIM:146734 skos:exactMatch HGNC:5474 Unspecified IGFBP5 +OMIM:146734 skos:exactMatch UMLS:C1334096 Unspecified IGFBP5 +OMIM:615508 skos:exactMatch UMLS:C3809719 Unspecified erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige +OMIM:146735 skos:exactMatch HGNC_symbol:IGFBP6 Unspecified IGFBP6 +OMIM:146735 skos:exactMatch HGNC:5475 Unspecified IGFBP6 +OMIM:146735 skos:exactMatch UMLS:C1367148 Unspecified IGFBP6 +OMIM:615509 skos:exactMatch HGNC_symbol:MIR675 Unspecified MIR675 +OMIM:615509 skos:exactMatch HGNC:33351 Unspecified MIR675 +OMIM:615509 skos:exactMatch UMLS:C2239705 Unspecified MIR675 +OMIM:146732 skos:exactMatch HGNC:5472 Unspecified IGFBP3 +OMIM:146732 skos:exactMatch HGNC_symbol:IGFBP3 Unspecified IGFBP3 +OMIM:146732 skos:exactMatch UMLS:C1334094 Unspecified IGFBP3 +OMIM:109820 skos:exactMatch UMLS:C0156273 Unspecified bladder diverticulum +OMIM:146733 skos:exactMatch HGNC_symbol:IGFBP4 Unspecified IGFBP4 +OMIM:146733 skos:exactMatch HGNC:5473 Unspecified IGFBP4 +OMIM:146733 skos:exactMatch UMLS:C1334095 Unspecified IGFBP4 +OMIM:146738 skos:exactMatch HGNC_symbol:INSL3 Unspecified INSL3 +OMIM:146738 skos:exactMatch HGNC:6086 Unspecified INSL3 +OMIM:146738 skos:exactMatch UMLS:C1416453 Unspecified INSL3 +OMIM:603531 skos:exactMatch UMLS:C1412439 Unspecified AP1S1 +OMIM:603531 skos:exactMatch HGNC_symbol:AP1S1 Unspecified AP1S1 +OMIM:603531 skos:exactMatch HGNC:559 Unspecified AP1S1 +OMIM:603531 skos:exactMatch UMLS:C1836330 Unspecified AP1S1 +OMIM:603530 skos:exactMatch UMLS:C1863767 Unspecified light fixation seizure syndrome +OMIM:603511 skos:exactMatch UMLS:C4721885 Unspecified muscular dystrophy, limb-girdle, autosomal dominant 1 +OMIM:603511 skos:exactMatch UMLS:C3148763 Unspecified muscular dystrophy, limb-girdle, autosomal dominant 1 +OMIM:603513 skos:exactMatch UMLS:C2751938 Unspecified +OMIM:603512 skos:exactMatch UMLS:C1419431 Unspecified RNGTT +OMIM:603512 skos:exactMatch HGNC:10073 Unspecified RNGTT +OMIM:603512 skos:exactMatch HGNC_symbol:RNGTT Unspecified RNGTT +OMIM:132100 skos:exactMatch UMLS:C1868677 Unspecified photoparoxysmal response 1 +OMIM:603515 skos:exactMatch HGNC:2442 Unspecified CSHL1 +OMIM:603515 skos:exactMatch UMLS:C1413754 Unspecified CSHL1 +OMIM:603515 skos:exactMatch HGNC_symbol:CSHL1 Unspecified CSHL1 +OMIM:603514 skos:exactMatch UMLS:C1419433 Unspecified RNMT +OMIM:603514 skos:exactMatch HGNC_symbol:RNMT Unspecified RNMT +OMIM:603514 skos:exactMatch HGNC:10075 Unspecified RNMT +OMIM:603517 skos:exactMatch UMLS:C1367449 Unspecified BCL10 +OMIM:603517 skos:exactMatch UMLS:C3276201 Unspecified BCL10 +OMIM:603517 skos:exactMatch UMLS:C3276200 Unspecified BCL10 +OMIM:603517 skos:exactMatch HGNC:989 Unspecified BCL10 +OMIM:603517 skos:exactMatch HGNC_symbol:BCL10 Unspecified BCL10 +OMIM:603517 skos:exactMatch UMLS:C4015195 Unspecified BCL10 +OMIM:603517 skos:exactMatch UMLS:C4016841 Unspecified BCL10 +OMIM:603517 skos:exactMatch UMLS:C4016843 Unspecified BCL10 +OMIM:603517 skos:exactMatch UMLS:C4016842 Unspecified BCL10 +OMIM:603517 skos:exactMatch UMLS:C4016845 Unspecified BCL10 +OMIM:603517 skos:exactMatch UMLS:C4016844 Unspecified BCL10 +OMIM:603517 skos:exactMatch UMLS:C4016846 Unspecified BCL10 +OMIM:603516 skos:exactMatch UMLS:C1963674 Unspecified spinocerebellar ataxia 10 +OMIM:603519 skos:exactMatch HGNC:16900 Unspecified SMNDC1 +OMIM:603519 skos:exactMatch HGNC_symbol:SMNDC1 Unspecified SMNDC1 +OMIM:603519 skos:exactMatch UMLS:C1424623 Unspecified SMNDC1 +OMIM:603518 skos:exactMatch HGNC:11802 Unspecified TIA1 +OMIM:603518 skos:exactMatch UMLS:C1420729 Unspecified TIA1 +OMIM:603518 skos:exactMatch HGNC_symbol:TIA1 Unspecified TIA1 +OMIM:146740 skos:exactMatch HGNC:3619 Unspecified FCGR3A +OMIM:146740 skos:exactMatch UMLS:C1414555 Unspecified FCGR3A +OMIM:146740 skos:exactMatch UMLS:C3810342 Unspecified FCGR3A +OMIM:146740 skos:exactMatch HGNC_symbol:FCGR3A Unspecified FCGR3A +OMIM:603520 skos:exactMatch HGNC_symbol:SNRPB2 Unspecified SNRPB2 +OMIM:603520 skos:exactMatch HGNC:11155 Unspecified SNRPB2 +OMIM:603520 skos:exactMatch UMLS:C1420286 Unspecified SNRPB2 +OMIM:134770 skos:exactMatch HGNC:3976 Unspecified FTH1 +OMIM:134770 skos:exactMatch HGNC_symbol:FTH1 Unspecified FTH1 +OMIM:134770 skos:exactMatch UMLS:C1414833 Unspecified FTH1 +OMIM:603500 skos:exactMatch UMLS:C1336664 Unspecified TRADD +OMIM:603500 skos:exactMatch HGNC:12030 Unspecified TRADD +OMIM:603500 skos:exactMatch HGNC_symbol:TRADD Unspecified TRADD +OMIM:603502 skos:exactMatch UMLS:C1415927 Unspecified IFRD1 +OMIM:603502 skos:exactMatch HGNC_symbol:IFRD1 Unspecified IFRD1 +OMIM:603502 skos:exactMatch HGNC:5456 Unspecified IFRD1 +OMIM:603501 skos:exactMatch HGNC:8605 Unspecified PARG +OMIM:603501 skos:exactMatch HGNC_symbol:PARG Unspecified PARG +OMIM:603501 skos:exactMatch UMLS:C1418269 Unspecified PARG +OMIM:603504 skos:exactMatch HGNC:1718 Unspecified CDC14A +OMIM:603504 skos:exactMatch UMLS:C1413253 Unspecified CDC14A +OMIM:603504 skos:exactMatch HGNC_symbol:CDC14A Unspecified CDC14A +OMIM:603503 skos:exactMatch HGNC:3005 Unspecified DPM1 +OMIM:603503 skos:exactMatch UMLS:C1414137 Unspecified DPM1 +OMIM:603503 skos:exactMatch HGNC_symbol:DPM1 Unspecified DPM1 +OMIM:603506 skos:exactMatch UMLS:C1416917 Unspecified LRP5 +OMIM:603506 skos:exactMatch HGNC_symbol:LRP5 Unspecified LRP5 +OMIM:603506 skos:exactMatch HGNC:6697 Unspecified LRP5 +OMIM:603505 skos:exactMatch UMLS:C1413254 Unspecified CDC14B +OMIM:603505 skos:exactMatch HGNC:1719 Unspecified CDC14B +OMIM:603505 skos:exactMatch HGNC_symbol:CDC14B Unspecified CDC14B +OMIM:110800 skos:exactMatch UMLS:C1292164 Unspecified blood group, 1 system +OMIM:110800 skos:exactMatch UMLS:C0020717 Unspecified blood group, 1 system +OMIM:603508 skos:exactMatch UMLS:C1417576 Unspecified MYOM1 +OMIM:603508 skos:exactMatch HGNC_symbol:MYOM1 Unspecified MYOM1 +OMIM:603508 skos:exactMatch HGNC:7613 Unspecified MYOM1 +OMIM:603507 skos:exactMatch UMLS:C4225231 Unspecified LRP6 +OMIM:603507 skos:exactMatch UMLS:C1416918 Unspecified LRP6 +OMIM:603507 skos:exactMatch HGNC_symbol:LRP6 Unspecified LRP6 +OMIM:603507 skos:exactMatch UMLS:C1970440 Unspecified LRP6 +OMIM:603507 skos:exactMatch HGNC:6698 Unspecified LRP6 +OMIM:603509 skos:exactMatch UMLS:C1417577 Unspecified MYOM2 +OMIM:603509 skos:exactMatch HGNC_symbol:MYOM2 Unspecified MYOM2 +OMIM:603509 skos:exactMatch HGNC:7614 Unspecified MYOM2 +OMIM:146750 skos:exactMatch UMLS:C0432304 Unspecified ichthyosis, lamellar, autosomal dominant +OMIM:146750 skos:exactMatch ORPHA:313 Unspecified ichthyosis, lamellar, autosomal dominant +OMIM:109800 skos:exactMatch UMLS:C0005684 Unspecified bladder cancer +OMIM:134780 skos:exactMatch UMLS:C0265263 Unspecified femoral-facial syndrome +OMIM:146760 skos:exactMatch HGNC:3613 Unspecified FCGR1A +OMIM:146760 skos:exactMatch UMLS:C1414550 Unspecified FCGR1A +OMIM:146760 skos:exactMatch UMLS:C4017539 Unspecified FCGR1A +OMIM:146760 skos:exactMatch UMLS:C4016211 Unspecified FCGR1A +OMIM:146760 skos:exactMatch HGNC_symbol:FCGR1A Unspecified FCGR1A +OMIM:144100 skos:exactMatch UMLS:C0038994 Unspecified hyperhidrosis, gustatory +OMIM:603566 skos:exactMatch UMLS:C1413968 Unspecified PIAS1 +OMIM:603566 skos:exactMatch HGNC_symbol:PIAS1 Unspecified PIAS1 +OMIM:603566 skos:exactMatch HGNC:2752 Unspecified PIAS1 +OMIM:603565 skos:exactMatch HGNC:4126 Unspecified GALNT4 +OMIM:603565 skos:exactMatch HGNC_symbol:GALNT4 Unspecified GALNT4 +OMIM:603565 skos:exactMatch UMLS:C1414954 Unspecified GALNT4 +OMIM:134790 skos:exactMatch HGNC_symbol:FTL Unspecified FTL +OMIM:134790 skos:exactMatch UMLS:C1414852 Unspecified FTL +OMIM:134790 skos:exactMatch HGNC:3999 Unspecified FTL +OMIM:603568 skos:exactMatch UMLS:C1419582 Unspecified RNU73 +OMIM:603568 skos:exactMatch HGNC:10235 Unspecified RNU73 +OMIM:603568 skos:exactMatch HGNC_symbol:SNORD73A Unspecified RNU73 +OMIM:603567 skos:exactMatch HGNC_symbol:PIAS2 Unspecified PIAS2 +OMIM:603567 skos:exactMatch UMLS:C1538642 Unspecified PIAS2 +OMIM:603567 skos:exactMatch HGNC:17311 Unspecified PIAS2 +OMIM:156100 skos:exactMatch HGNC:7180 Unspecified MN1 +OMIM:156100 skos:exactMatch UMLS:C5394044 Unspecified MN1 +OMIM:156100 skos:exactMatch HGNC_symbol:MN1 Unspecified MN1 +OMIM:156100 skos:exactMatch UMLS:C1417217 Unspecified MN1 +OMIM:134795 skos:exactMatch HGNC_symbol:FBL Unspecified FBL +OMIM:134795 skos:exactMatch UMLS:C1414538 Unspecified FBL +OMIM:134795 skos:exactMatch HGNC:3599 Unspecified FBL +OMIM:603569 skos:exactMatch UMLS:C1863703 Unspecified tracheobronchial stenosis, congenital +OMIM:134797 skos:exactMatch HGNC:3603 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C0024796 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C3541518 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C3280054 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C1414542 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C4016059 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C4016057 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C4016055 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C4016056 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C4016053 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C4016054 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C4016052 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C4016060 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C1858556 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C1869115 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C4310796 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C1861456 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C0265287 Unspecified FBN1 +OMIM:134797 skos:exactMatch HGNC_symbol:FBN1 Unspecified FBN1 +OMIM:134797 skos:exactMatch UMLS:C4015968 Unspecified FBN1 +OMIM:615550 skos:exactMatch ORPHA:124 Unspecified diamond-blackfan anemia 12 +OMIM:615550 skos:exactMatch UMLS:C3809888 Unspecified diamond-blackfan anemia 12 +OMIM:615551 skos:exactMatch UMLS:C3809893 Unspecified episodic pain syndrome, familial, 2 +OMIM:615552 skos:exactMatch UMLS:C3809899 Unspecified episodic pain syndrome, familial, 3 +OMIM:615553 skos:exactMatch UMLS:C3809910 Unspecified arthrogryposis, mental retardation, and seizures +OMIM:615554 skos:exactMatch UMLS:C3809918 Unspecified multiple fibroadenomas of the breast +OMIM:615544 skos:exactMatch UMLS:C3809872 Unspecified periventricular nodular heterotopia 6 +OMIM:146770 skos:exactMatch HGNC:5870 Unspecified IGLL1 +OMIM:146770 skos:exactMatch UMLS:C1416293 Unspecified IGLL1 +OMIM:146770 skos:exactMatch HGNC_symbol:IGLL1 Unspecified IGLL1 +OMIM:615545 skos:exactMatch UMLS:C3809874 Unspecified leukemia, acute lymphoblastic, susceptibility to, 3 +OMIM:615546 skos:exactMatch UMLS:C3809875 Unspecified van maldergem syndrome 2 +OMIM:615547 skos:exactMatch UMLS:C1859724 Unspecified schaaf-yang syndrome +OMIM:615547 skos:exactMatch ORPHA:398069 Unspecified schaaf-yang syndrome +OMIM:615547 skos:exactMatch ORPHA:739 Unspecified schaaf-yang syndrome +OMIM:615547 skos:exactMatch UMLS:C3809877 Unspecified schaaf-yang syndrome +OMIM:615548 skos:exactMatch UMLS:C3809882 Unspecified neuropathy, hereditary sensory and autonomic, iia 7 +OMIM:313500 skos:exactMatch UMLS:C1970757 Unspecified tooth agenesis, selective, x-linked, 1 +OMIM:615549 skos:exactMatch HGNC_symbol:ARMC5 Unspecified ARMC5 +OMIM:615549 skos:exactMatch HGNC:25781 Unspecified ARMC5 +OMIM:615549 skos:exactMatch UMLS:C1538935 Unspecified ARMC5 +OMIM:144110 skos:exactMatch UMLS:C1274743 Unspecified hyperhidrosis palmaris et plantaris +OMIM:603571 skos:exactMatch HGNC:12706 Unspecified VNN2 +OMIM:603571 skos:exactMatch UMLS:C1421460 Unspecified VNN2 +OMIM:603571 skos:exactMatch HGNC_symbol:VNN2 Unspecified VNN2 +OMIM:603570 skos:exactMatch UMLS:C1421459 Unspecified VNN1 +OMIM:603570 skos:exactMatch HGNC_symbol:VNN1 Unspecified VNN1 +OMIM:603570 skos:exactMatch UMLS:C3888129 Unspecified VNN1 +OMIM:603570 skos:exactMatch HGNC:12705 Unspecified VNN1 +OMIM:603573 skos:exactMatch UMLS:C1417051 Unspecified MBD3 +OMIM:603573 skos:exactMatch HGNC:6918 Unspecified MBD3 +OMIM:603573 skos:exactMatch HGNC_symbol:MBD3 Unspecified MBD3 +OMIM:603572 skos:exactMatch UMLS:C1863702 Unspecified microcephaly, facial abnormalities, micromelia, and mental retardation +OMIM:603575 skos:exactMatch UMLS:C1417744 Unspecified NME5 +OMIM:603575 skos:exactMatch HGNC_symbol:NME5 Unspecified NME5 +OMIM:603575 skos:exactMatch HGNC:7853 Unspecified NME5 +OMIM:603574 skos:exactMatch HGNC:6919 Unspecified MBD4 +OMIM:603574 skos:exactMatch UMLS:C1417052 Unspecified MBD4 +OMIM:603574 skos:exactMatch HGNC_symbol:MBD4 Unspecified MBD4 +OMIM:603555 skos:exactMatch HGNC:11467 Unspecified SUPT4H1 +OMIM:603555 skos:exactMatch UMLS:C1420523 Unspecified SUPT4H1 +OMIM:603555 skos:exactMatch HGNC_symbol:SUPT4H1 Unspecified SUPT4H1 +OMIM:603554 skos:exactMatch ORPHA:39041 Unspecified omenn syndrome +OMIM:603554 skos:exactMatch UMLS:C2700553 Unspecified omenn syndrome +OMIM:603554 skos:exactMatch UMLS:C2931884 Unspecified omenn syndrome +OMIM:603557 skos:exactMatch HGNC:7450 Unspecified MTMR2 +OMIM:603557 skos:exactMatch HGNC_symbol:MTMR2 Unspecified MTMR2 +OMIM:603557 skos:exactMatch UMLS:C1417436 Unspecified MTMR2 +OMIM:603559 skos:exactMatch HGNC:7452 Unspecified MTMR4 +OMIM:603559 skos:exactMatch HGNC_symbol:MTMR4 Unspecified MTMR4 +OMIM:603559 skos:exactMatch UMLS:C1417438 Unspecified MTMR4 +OMIM:603558 skos:exactMatch HGNC:7451 Unspecified MTMR3 +OMIM:603558 skos:exactMatch HGNC_symbol:MTMR3 Unspecified MTMR3 +OMIM:603558 skos:exactMatch UMLS:C1417437 Unspecified MTMR3 +OMIM:615540 skos:exactMatch UMLS:C3147083 Unspecified deafness, autosomal recessive 76 +OMIM:615541 skos:exactMatch ORPHA:391307 Unspecified intellectual developmental disorder, autosomal recessive 39 +OMIM:615541 skos:exactMatch UMLS:C3809853 Unspecified intellectual developmental disorder, autosomal recessive 39 +OMIM:615542 skos:exactMatch UMLS:C3809858 Unspecified testicular anomalies with or without congenital heart disease +OMIM:615543 skos:exactMatch UMLS:C1824402 Unspecified ARPIN +OMIM:615543 skos:exactMatch HGNC:28782 Unspecified ARPIN +OMIM:615543 skos:exactMatch HGNC_symbol:ARPIN Unspecified ARPIN +OMIM:615533 skos:exactMatch HGNC:30883 Unspecified TMEM126B +OMIM:615533 skos:exactMatch HGNC_symbol:TMEM126B Unspecified TMEM126B +OMIM:615533 skos:exactMatch UMLS:C1823385 Unspecified TMEM126B +OMIM:615534 skos:exactMatch UMLS:C3469994 Unspecified TIMMDC1 +OMIM:615534 skos:exactMatch HGNC_symbol:TIMMDC1 Unspecified TIMMDC1 +OMIM:615534 skos:exactMatch HGNC:1321 Unspecified TIMMDC1 +OMIM:615535 skos:exactMatch HGNC:26703 Unspecified SYNE4 +OMIM:615535 skos:exactMatch HGNC_symbol:SYNE4 Unspecified SYNE4 +OMIM:615535 skos:exactMatch UMLS:C1824487 Unspecified SYNE4 +OMIM:144120 skos:exactMatch UMLS:C1840429 Unspecified hyperimmunoglobulin g1(a1) syndrome +OMIM:146780 skos:exactMatch HGNC:5717 Unspecified IGKDEL +OMIM:146780 skos:exactMatch UMLS:C1416164 Unspecified IGKDEL +OMIM:146780 skos:exactMatch HGNC_symbol:IGKDEL Unspecified IGKDEL +OMIM:615536 skos:exactMatch UMLS:C2681205 Unspecified C2ORF80 +OMIM:615536 skos:exactMatch HGNC_symbol:C2orf80 Unspecified C2ORF80 +OMIM:615536 skos:exactMatch HGNC:34352 Unspecified C2ORF80 +OMIM:615537 skos:exactMatch UMLS:C0406811 Unspecified reticulate acropigmentation of kitamura +OMIM:171720 skos:exactMatch UMLS:C1868387 Unspecified alkaline phosphatase, plasma level of, quantitative trait locus 1 +OMIM:615538 skos:exactMatch UMLS:C3809844 Unspecified chromosome 22q13 duplication syndrome +OMIM:615539 skos:exactMatch UMLS:C3809845 Unspecified ehlers-danlos syndrome, musculocontractural type, 2 +OMIM:603560 skos:exactMatch UMLS:C1419823 Unspecified SBF1 +OMIM:603560 skos:exactMatch HGNC:10542 Unspecified SBF1 +OMIM:603560 skos:exactMatch HGNC_symbol:SBF1 Unspecified SBF1 +OMIM:603562 skos:exactMatch HGNC_symbol:MTMR7 Unspecified MTMR7 +OMIM:603562 skos:exactMatch UMLS:C1417440 Unspecified MTMR7 +OMIM:603562 skos:exactMatch HGNC:7454 Unspecified MTMR7 +OMIM:603561 skos:exactMatch HGNC_symbol:MTMR6 Unspecified MTMR6 +OMIM:603561 skos:exactMatch UMLS:C1417439 Unspecified MTMR6 +OMIM:603561 skos:exactMatch HGNC:7453 Unspecified MTMR6 +OMIM:603564 skos:exactMatch HGNC:3006 Unspecified DPM2 +OMIM:603564 skos:exactMatch UMLS:C1414138 Unspecified DPM2 +OMIM:603564 skos:exactMatch HGNC_symbol:DPM2 Unspecified DPM2 +OMIM:603563 skos:exactMatch UMLS:C1863704 Unspecified spastic paraplegia 8, autosomal dominant +OMIM:603544 skos:exactMatch UMLS:C1413183 Unspecified CCNK +OMIM:603544 skos:exactMatch HGNC_symbol:CCNK Unspecified CCNK +OMIM:603544 skos:exactMatch HGNC:1596 Unspecified CCNK +OMIM:603543 skos:exactMatch UMLS:C1863753 Unspecified limb-mammary syndrome +OMIM:603543 skos:exactMatch ORPHA:69085 Unspecified limb-mammary syndrome +OMIM:603546 skos:exactMatch UMLS:C1863732 Unspecified spondyloepimetaphyseal dysplasia with joint laxity, iia 2 +OMIM:603548 skos:exactMatch HGNC_symbol:CDS1 Unspecified CDS1 +OMIM:603548 skos:exactMatch HGNC:1800 Unspecified CDS1 +OMIM:603548 skos:exactMatch UMLS:C1413297 Unspecified CDS1 +OMIM:603547 skos:exactMatch HGNC:6917 Unspecified MBD2 +OMIM:603547 skos:exactMatch UMLS:C1417050 Unspecified MBD2 +OMIM:603547 skos:exactMatch HGNC_symbol:MBD2 Unspecified MBD2 +OMIM:301500 skos:exactMatch UMLS:C0002986 Unspecified fabry disease +OMIM:301500 skos:exactMatch ORPHA:324 Unspecified fabry disease +OMIM:603549 skos:exactMatch HGNC_symbol:CDS2 Unspecified CDS2 +OMIM:603549 skos:exactMatch UMLS:C1413298 Unspecified CDS2 +OMIM:603549 skos:exactMatch HGNC:1801 Unspecified CDS2 +OMIM:168100 skos:exactMatch UMLS:C0238344 Unspecified paralysis agitans, juvenile, of hunt +OMIM:615530 skos:exactMatch UMLS:C3809824 Unspecified parkinson disease 20, early-onset +OMIM:615531 skos:exactMatch HGNC:28196 Unspecified TMEM79 +OMIM:615531 skos:exactMatch UMLS:C1823340 Unspecified TMEM79 +OMIM:615531 skos:exactMatch HGNC_symbol:TMEM79 Unspecified TMEM79 +OMIM:615532 skos:exactMatch HGNC_symbol:ERMARD Unspecified ERMARD +OMIM:615532 skos:exactMatch HGNC:21056 Unspecified ERMARD +OMIM:615532 skos:exactMatch UMLS:C1427278 Unspecified ERMARD +OMIM:615522 skos:exactMatch UMLS:C3809781 Unspecified cole disease +OMIM:615523 skos:exactMatch UMLS:C3809798 Unspecified corneal dystrophy, fuchs endothelial, 8 +OMIM:146790 skos:exactMatch UMLS:C1970029 Unspecified FCGR2A +OMIM:146790 skos:exactMatch UMLS:C4016213 Unspecified FCGR2A +OMIM:146790 skos:exactMatch HGNC_symbol:FCGR2A Unspecified FCGR2A +OMIM:146790 skos:exactMatch HGNC:3616 Unspecified FCGR2A +OMIM:146790 skos:exactMatch UMLS:C1840270 Unspecified FCGR2A +OMIM:146790 skos:exactMatch UMLS:C1414553 Unspecified FCGR2A +OMIM:615524 skos:exactMatch UMLS:C3809803 Unspecified microphthalmia, syndromic 12 +OMIM:615525 skos:exactMatch HGNC_symbol:COPG1 Unspecified COPG1 +OMIM:615525 skos:exactMatch UMLS:C1413610 Unspecified COPG1 +OMIM:615525 skos:exactMatch HGNC:2236 Unspecified COPG1 +OMIM:615526 skos:exactMatch UMLS:C1426188 Unspecified COPZ2 +OMIM:615526 skos:exactMatch HGNC_symbol:COPZ2 Unspecified COPZ2 +OMIM:615526 skos:exactMatch HGNC:19356 Unspecified COPZ2 +OMIM:615527 skos:exactMatch UMLS:C3714992 Unspecified candidiasis, familial, 8 +OMIM:171750 skos:exactMatch UMLS:C1868386 Unspecified None +OMIM:615528 skos:exactMatch UMLS:C3809811 Unspecified parkinson disease 19a, juvenile-onset +OMIM:615528 skos:exactMatch UMLS:C4310802 Unspecified parkinson disease 19a, juvenile-onset +OMIM:615529 skos:exactMatch UMLS:C3809819 Unspecified craniosynostosis 5, susceptibility to +OMIM:183700 skos:exactMatch UMLS:C1868114 Unspecified split-foot deformity with mandibulofacial dysostosis +OMIM:603551 skos:exactMatch HGNC:5321 Unspecified HYAL2 +OMIM:603551 skos:exactMatch UMLS:C1415826 Unspecified HYAL2 +OMIM:603551 skos:exactMatch HGNC_symbol:HYAL2 Unspecified HYAL2 +OMIM:603550 skos:exactMatch HGNC_symbol:EYA4 Unspecified EYA4 +OMIM:603550 skos:exactMatch HGNC:3522 Unspecified EYA4 +OMIM:603550 skos:exactMatch UMLS:C1414493 Unspecified EYA4 +OMIM:603553 skos:exactMatch UMLS:C1863727 Unspecified hemophagocytic lymphohistiocytosis, familial, 2 +OMIM:603553 skos:exactMatch ORPHA:540 Unspecified hemophagocytic lymphohistiocytosis, familial, 2 +OMIM:603552 skos:exactMatch UMLS:C1863728 Unspecified hemophagocytic lymphohistiocytosis, familial, 4 +OMIM:603552 skos:exactMatch ORPHA:540 Unspecified hemophagocytic lymphohistiocytosis, familial, 4 +OMIM:603533 skos:exactMatch UMLS:C1412435 Unspecified AP1G1 +OMIM:603533 skos:exactMatch HGNC_symbol:AP1G1 Unspecified AP1G1 +OMIM:603533 skos:exactMatch HGNC:555 Unspecified AP1G1 +OMIM:603535 skos:exactMatch HGNC:13667 Unspecified AP1M1 +OMIM:603535 skos:exactMatch UMLS:C1422136 Unspecified AP1M1 +OMIM:603535 skos:exactMatch HGNC_symbol:AP1M1 Unspecified AP1M1 +OMIM:603534 skos:exactMatch UMLS:C1412436 Unspecified AP1G2 +OMIM:603534 skos:exactMatch HGNC_symbol:AP1G2 Unspecified AP1G2 +OMIM:603534 skos:exactMatch HGNC:556 Unspecified AP1G2 +OMIM:603537 skos:exactMatch HGNC_symbol:KCNQ4 Unspecified KCNQ4 +OMIM:603537 skos:exactMatch HGNC:6298 Unspecified KCNQ4 +OMIM:603537 skos:exactMatch UMLS:C1416616 Unspecified KCNQ4 +OMIM:603536 skos:exactMatch HGNC_symbol:FUBP3 Unspecified FUBP3 +OMIM:603536 skos:exactMatch UMLS:C1414856 Unspecified FUBP3 +OMIM:603536 skos:exactMatch HGNC:4005 Unspecified FUBP3 +OMIM:603539 skos:exactMatch HGNC:2531 Unspecified CTSF +OMIM:603539 skos:exactMatch UMLS:C1413813 Unspecified CTSF +OMIM:603539 skos:exactMatch HGNC_symbol:CTSF Unspecified CTSF +OMIM:603538 skos:exactMatch UMLS:C1416688 Unspecified KMO +OMIM:603538 skos:exactMatch HGNC_symbol:KMO Unspecified KMO +OMIM:603538 skos:exactMatch HGNC:6381 Unspecified KMO +OMIM:615520 skos:exactMatch UMLS:C2239690 Unspecified MIR297 +OMIM:615520 skos:exactMatch HGNC_symbol:MIR297 Unspecified MIR297 +OMIM:615520 skos:exactMatch HGNC:33691 Unspecified MIR297 +OMIM:615521 skos:exactMatch UMLS:C1850625 Unspecified STAC3 +OMIM:615521 skos:exactMatch UMLS:C1539880 Unspecified STAC3 +OMIM:615521 skos:exactMatch HGNC_symbol:STAC3 Unspecified STAC3 +OMIM:615521 skos:exactMatch HGNC:28423 Unspecified STAC3 +OMIM:615511 skos:exactMatch UMLS:C3714933 Unspecified myopathy due to myoadenylate deaminase deficiency +OMIM:615512 skos:exactMatch UMLS:C1860808 Unspecified triosephosphate isomerase deficiency +OMIM:615513 skos:exactMatch UMLS:C3714976 Unspecified immunodeficiency 14a, autosomal dominant +OMIM:615514 skos:exactMatch UMLS:C1824794 Unspecified CDK12 +OMIM:615514 skos:exactMatch HGNC_symbol:CDK12 Unspecified CDK12 +OMIM:615514 skos:exactMatch HGNC:24224 Unspecified CDK12 +OMIM:615515 skos:exactMatch UMLS:C3715155 Unspecified amyotrophic lateral sclerosis 19 +OMIM:615516 skos:exactMatch UMLS:C3809753 Unspecified intellectual developmental disorder, autosomal recessive 38 +OMIM:615517 skos:exactMatch UMLS:C1851316 Unspecified hemochromatosis, iia 5 +OMIM:171740 skos:exactMatch UMLS:C1412363 Unspecified ALPI +OMIM:171740 skos:exactMatch HGNC_symbol:ALPI Unspecified ALPI +OMIM:171740 skos:exactMatch HGNC:437 Unspecified ALPI +OMIM:615518 skos:exactMatch UMLS:C3809768 Unspecified immunodeficiency 13 +OMIM:615519 skos:exactMatch HGNC:11984 Unspecified TOM1L2 +OMIM:615519 skos:exactMatch HGNC_symbol:TOM1L2 Unspecified TOM1L2 +OMIM:615519 skos:exactMatch UMLS:C1420856 Unspecified TOM1L2 +OMIM:603540 skos:exactMatch HGNC_symbol:GABBR1 Unspecified GABBR1 +OMIM:603540 skos:exactMatch HGNC:4070 Unspecified GABBR1 +OMIM:603540 skos:exactMatch UMLS:C1414904 Unspecified GABBR1 +OMIM:603542 skos:exactMatch HGNC_symbol:SNRPG Unspecified SNRPG +OMIM:603542 skos:exactMatch HGNC:11163 Unspecified SNRPG +OMIM:603542 skos:exactMatch UMLS:C1420294 Unspecified SNRPG +OMIM:603541 skos:exactMatch HGNC_symbol:SNRPF Unspecified SNRPF +OMIM:603541 skos:exactMatch HGNC:11162 Unspecified SNRPF +OMIM:603541 skos:exactMatch UMLS:C1420293 Unspecified SNRPF +OMIM:266510 skos:exactMatch UMLS:C3550693 Unspecified peroxisome biogenesis disorder 3b +OMIM:615590 skos:exactMatch UMLS:C3810041 Unspecified alzheimer disease 18 +OMIM:615591 skos:exactMatch UMLS:C3810042 Unspecified macular degeneration, age-related, 15 +OMIM:615592 skos:exactMatch ORPHA:397787 Unspecified immunodeficiency 15b +OMIM:615592 skos:exactMatch UMLS:C4747743 Unspecified immunodeficiency 15b +OMIM:615593 skos:exactMatch UMLS:C3810053 Unspecified immunodeficiency 16 +OMIM:615594 skos:exactMatch UMLS:C3810054 Unspecified APELA +OMIM:615594 skos:exactMatch HGNC_symbol:APELA Unspecified APELA +OMIM:615594 skos:exactMatch HGNC:48925 Unspecified APELA +OMIM:615595 skos:exactMatch UMLS:C3810055 Unspecified combined oxidative phosphorylation deficiency 19 +OMIM:615596 skos:exactMatch UMLS:C3810062 Unspecified congenital disorder of glycosylation, iia iw, autosomal recessive +OMIM:615596 skos:exactMatch ORPHA:370921 Unspecified congenital disorder of glycosylation, iia iw, autosomal recessive +OMIM:615597 skos:exactMatch UMLS:C2931007 Unspecified congenital disorder of glycosylation, iia ix +OMIM:615598 skos:exactMatch UMLS:C3810072 Unspecified palmoplantar keratoderma, nagashima iia +OMIM:615588 skos:exactMatch HGNC_symbol:SMDT1 Unspecified SMDT1 +OMIM:615588 skos:exactMatch UMLS:C1824513 Unspecified SMDT1 +OMIM:615588 skos:exactMatch HGNC:25055 Unspecified SMDT1 +OMIM:144150 skos:exactMatch UMLS:C0263420 Unspecified hyperkeratosis lenticularis perstans +OMIM:615589 skos:exactMatch UMLS:C3888339 Unspecified otosclerosis 10 +OMIM:603599 skos:exactMatch HGNC:1876 Unspecified CFLAR +OMIM:603599 skos:exactMatch UMLS:C1413357 Unspecified CFLAR +OMIM:603599 skos:exactMatch HGNC_symbol:CFLAR Unspecified CFLAR +OMIM:242550 skos:exactMatch UMLS:C1855786 Unspecified ichthyosis, split hairs, and amino aciduria +OMIM:603598 skos:exactMatch HGNC:11925 Unspecified TNFSF10 +OMIM:603598 skos:exactMatch HGNC_symbol:TNFSF10 Unspecified TNFSF10 +OMIM:603598 skos:exactMatch UMLS:C1336646 Unspecified TNFSF10 +OMIM:615580 skos:exactMatch HGNC_symbol:ZNF528 Unspecified ZNF528 +OMIM:615580 skos:exactMatch HGNC:29384 Unspecified ZNF528 +OMIM:615580 skos:exactMatch UMLS:C1428849 Unspecified ZNF528 +OMIM:615581 skos:exactMatch HGNC:33855 Unspecified DUX4L9 +OMIM:615581 skos:exactMatch HGNC_symbol:DUX4L9 Unspecified DUX4L9 +OMIM:615581 skos:exactMatch UMLS:C3147131 Unspecified DUX4L9 +OMIM:615582 skos:exactMatch UMLS:C3810012 Unspecified loeys-dietz syndrome 5 +OMIM:615583 skos:exactMatch UMLS:C3810023 Unspecified verheij syndrome +OMIM:266500 skos:exactMatch UMLS:C0034960 Unspecified refsum disease, classic +OMIM:615584 skos:exactMatch UMLS:C1825242 Unspecified FAM111B +OMIM:615584 skos:exactMatch HGNC_symbol:FAM111B Unspecified FAM111B +OMIM:615584 skos:exactMatch HGNC:24200 Unspecified FAM111B +OMIM:615585 skos:exactMatch HGNC:32434 Unspecified SLC38A8 +OMIM:615585 skos:exactMatch UMLS:C2239931 Unspecified SLC38A8 +OMIM:615585 skos:exactMatch HGNC_symbol:SLC38A8 Unspecified SLC38A8 +OMIM:615586 skos:exactMatch UMLS:C1824130 Unspecified CEP19 +OMIM:615586 skos:exactMatch HGNC:28209 Unspecified CEP19 +OMIM:615586 skos:exactMatch HGNC_symbol:CEP19 Unspecified CEP19 +OMIM:615587 skos:exactMatch HGNC:17859 Unspecified NUP188 +OMIM:615587 skos:exactMatch HGNC_symbol:NUP188 Unspecified NUP188 +OMIM:615587 skos:exactMatch UMLS:C1425136 Unspecified NUP188 +OMIM:615587 skos:exactMatch UMLS:C5394118 Unspecified NUP188 +OMIM:615577 skos:exactMatch ORPHA:1572 Unspecified immunodeficiency, common variable, 10 +OMIM:615577 skos:exactMatch UMLS:C3809991 Unspecified immunodeficiency, common variable, 10 +OMIM:615577 skos:exactMatch ORPHA:293978 Unspecified immunodeficiency, common variable, 10 +OMIM:171760 skos:exactMatch HGNC:438 Unspecified ALPL +OMIM:171760 skos:exactMatch UMLS:C1412364 Unspecified ALPL +OMIM:171760 skos:exactMatch HGNC_symbol:ALPL Unspecified ALPL +OMIM:615578 skos:exactMatch UMLS:C3810001 Unspecified combined oxidative phosphorylation deficiency 18 +OMIM:615579 skos:exactMatch HGNC:37931 Unspecified ATXN7L3B +OMIM:615579 skos:exactMatch UMLS:C2828823 Unspecified ATXN7L3B +OMIM:615579 skos:exactMatch HGNC_symbol:ATXN7L3B Unspecified ATXN7L3B +OMIM:603588 skos:exactMatch UMLS:C1863691 Unspecified parotitis, juvenile recurrent +OMIM:603587 skos:exactMatch UMLS:C1863692 Unspecified follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts +OMIM:603589 skos:exactMatch UMLS:C1970343 Unspecified facial dysmorphism, selective tooth agenesis, and choroid calcification +OMIM:615570 skos:exactMatch HGNC:16086 Unspecified SFXN2 +OMIM:615570 skos:exactMatch HGNC_symbol:SFXN2 Unspecified SFXN2 +OMIM:615570 skos:exactMatch UMLS:C1423967 Unspecified SFXN2 +OMIM:615571 skos:exactMatch HGNC:16087 Unspecified SFXN3 +OMIM:615571 skos:exactMatch HGNC_symbol:SFXN3 Unspecified SFXN3 +OMIM:615571 skos:exactMatch UMLS:C1423968 Unspecified SFXN3 +OMIM:615572 skos:exactMatch HGNC:16073 Unspecified SFXN5 +OMIM:615572 skos:exactMatch HGNC_symbol:SFXN5 Unspecified SFXN5 +OMIM:615572 skos:exactMatch UMLS:C1423957 Unspecified SFXN5 +OMIM:615573 skos:exactMatch UMLS:C3809965 Unspecified nephrotic syndrome, iia 9 +OMIM:615574 skos:exactMatch UMLS:C3809971 Unspecified asparagine synthetase deficiency +OMIM:615574 skos:exactMatch ORPHA:391376 Unspecified asparagine synthetase deficiency +OMIM:242520 skos:exactMatch UMLS:C1275088 Unspecified ichthyosis, hepatosplenomegaly, and cerebellar degeneration +OMIM:615575 skos:exactMatch UMLS:C3888271 Unspecified neuronopathy, distal hereditary motor, iia 2d +OMIM:615576 skos:exactMatch HGNC_symbol:MIR185 Unspecified MIR185 +OMIM:615576 skos:exactMatch UMLS:C1537819 Unspecified MIR185 +OMIM:615576 skos:exactMatch HGNC:31556 Unspecified MIR185 +OMIM:615566 skos:exactMatch UMLS:C1423776 Unspecified BTBD3 +OMIM:615566 skos:exactMatch HGNC_symbol:BTBD3 Unspecified BTBD3 +OMIM:615566 skos:exactMatch HGNC:15854 Unspecified BTBD3 +OMIM:615567 skos:exactMatch HGNC:19041 Unspecified COQ8B +OMIM:615567 skos:exactMatch HGNC_symbol:COQ8B Unspecified COQ8B +OMIM:615567 skos:exactMatch UMLS:C1425974 Unspecified COQ8B +OMIM:615568 skos:exactMatch HGNC:48603 Unspecified SCHLAP1 +OMIM:615568 skos:exactMatch HGNC_symbol:SCHLAP1 Unspecified SCHLAP1 +OMIM:615568 skos:exactMatch UMLS:C3809964 Unspecified SCHLAP1 +OMIM:171790 skos:exactMatch HGNC_symbol:ACP3 Unspecified ACPP +OMIM:171790 skos:exactMatch UMLS:C1367456 Unspecified ACPP +OMIM:171790 skos:exactMatch HGNC:125 Unspecified ACPP +OMIM:615569 skos:exactMatch HGNC_symbol:SFXN1 Unspecified SFXN1 +OMIM:615569 skos:exactMatch UMLS:C1423966 Unspecified SFXN1 +OMIM:615569 skos:exactMatch HGNC:16085 Unspecified SFXN1 +OMIM:603591 skos:exactMatch HGNC_symbol:USP13 Unspecified USP13 +OMIM:603591 skos:exactMatch HGNC:12611 Unspecified USP13 +OMIM:603591 skos:exactMatch UMLS:C1421390 Unspecified USP13 +OMIM:603590 skos:exactMatch UMLS:C1837229 Unspecified LARGE1 +OMIM:603590 skos:exactMatch UMLS:C1416798 Unspecified LARGE1 +OMIM:603590 skos:exactMatch HGNC:6511 Unspecified LARGE1 +OMIM:603590 skos:exactMatch HGNC_symbol:LARGE1 Unspecified LARGE1 +OMIM:603590 skos:exactMatch UMLS:C3150414 Unspecified LARGE1 +OMIM:603593 skos:exactMatch UMLS:C1420226 Unspecified SLC7A7 +OMIM:603593 skos:exactMatch HGNC_symbol:SLC7A7 Unspecified SLC7A7 +OMIM:603593 skos:exactMatch HGNC:11065 Unspecified SLC7A7 +OMIM:603592 skos:exactMatch UMLS:C1863688 Unspecified xanthinuria, iia 2 +OMIM:603595 skos:exactMatch UMLS:C1863678 Unspecified craniosynostosis with ectopia lentis +OMIM:603594 skos:exactMatch HGNC:11934 Unspecified TNFSF4 +OMIM:603594 skos:exactMatch UMLS:C1336648 Unspecified TNFSF4 +OMIM:603594 skos:exactMatch HGNC_symbol:TNFSF4 Unspecified TNFSF4 +OMIM:254500 skos:exactMatch UMLS:C0268381 Unspecified myeloma, multiple +OMIM:254500 skos:exactMatch UMLS:C0026764 Unspecified myeloma, multiple +OMIM:603597 skos:exactMatch HGNC:19383 Unspecified SOCS1 +OMIM:603597 skos:exactMatch HGNC_symbol:SOCS1 Unspecified SOCS1 +OMIM:603597 skos:exactMatch UMLS:C1426208 Unspecified SOCS1 +OMIM:603596 skos:exactMatch UMLS:C0152427 Unspecified polydactyly +OMIM:603577 skos:exactMatch HGNC:7870 Unspecified NOL4 +OMIM:603577 skos:exactMatch UMLS:C1417757 Unspecified NOL4 +OMIM:603577 skos:exactMatch HGNC_symbol:NOL4 Unspecified NOL4 +OMIM:603576 skos:exactMatch UMLS:C1417194 Unspecified TRPM1 +OMIM:603576 skos:exactMatch HGNC_symbol:TRPM1 Unspecified TRPM1 +OMIM:603576 skos:exactMatch HGNC:7146 Unspecified TRPM1 +OMIM:603579 skos:exactMatch HGNC_symbol:RIOK3 Unspecified RIOK3 +OMIM:603579 skos:exactMatch HGNC:11451 Unspecified RIOK3 +OMIM:603579 skos:exactMatch UMLS:C1420513 Unspecified RIOK3 +OMIM:242530 skos:exactMatch UMLS:C1855787 Unspecified ichthyosis, mental retardation, dwarfism, and renal impairment +OMIM:603578 skos:exactMatch UMLS:C1418204 Unspecified OVGP1 +OMIM:603578 skos:exactMatch HGNC_symbol:OVGP1 Unspecified OVGP1 +OMIM:603578 skos:exactMatch HGNC:8524 Unspecified OVGP1 +OMIM:615560 skos:exactMatch UMLS:C3714942 Unspecified otofaciocervical syndrome 2, with t-cell deficiency +OMIM:615560 skos:exactMatch ORPHA:2792 Unspecified otofaciocervical syndrome 2, with t-cell deficiency +OMIM:615561 skos:exactMatch UMLS:C3809950 Unspecified complement factor B deficiency +OMIM:615562 skos:exactMatch HGNC:13452 Unspecified SPAG5 +OMIM:615562 skos:exactMatch UMLS:C1422002 Unspecified SPAG5 +OMIM:615562 skos:exactMatch HGNC_symbol:SPAG5 Unspecified SPAG5 +OMIM:615563 skos:exactMatch HGNC:19339 Unspecified NRBP2 +OMIM:615563 skos:exactMatch UMLS:C1538485 Unspecified NRBP2 +OMIM:615563 skos:exactMatch HGNC_symbol:NRBP2 Unspecified NRBP2 +OMIM:144190 skos:exactMatch UMLS:C1840428 Unspecified hyperkeratosis-hyperpigmentation syndrome +OMIM:615564 skos:exactMatch UMLS:C1423969 Unspecified SFXN4 +OMIM:615564 skos:exactMatch HGNC:16088 Unspecified SFXN4 +OMIM:615564 skos:exactMatch HGNC_symbol:SFXN4 Unspecified SFXN4 +OMIM:615565 skos:exactMatch UMLS:C3809954 Unspecified retinitis pigmentosa 67 +OMIM:615555 skos:exactMatch UMLS:C0020514 Unspecified hyperprolactinemia +OMIM:615556 skos:exactMatch HGNC_symbol:ATAT1 Unspecified ATAT1 +OMIM:615556 skos:exactMatch HGNC:21186 Unspecified ATAT1 +OMIM:615556 skos:exactMatch UMLS:C1427398 Unspecified ATAT1 +OMIM:615557 skos:exactMatch UMLS:C3809925 Unspecified melioidosis, susceptibility to +OMIM:615557 skos:exactMatch UMLS:C3715193 Unspecified melioidosis, susceptibility to +OMIM:615558 skos:exactMatch UMLS:C4551990 Unspecified hypobetalipoproteinemia, familial, 1 +OMIM:615558 skos:exactMatch UMLS:C1862596 Unspecified hypobetalipoproteinemia, familial, 1 +OMIM:615558 skos:exactMatch UMLS:C4760580 Unspecified hypobetalipoproteinemia, familial, 1 +OMIM:615559 skos:exactMatch UMLS:C3809928 Unspecified autoimmune lymphoproliferative syndrome, iia 3 +OMIM:603580 skos:exactMatch HGNC_symbol:PCDH8 Unspecified PCDH8 +OMIM:603580 skos:exactMatch HGNC:8660 Unspecified PCDH8 +OMIM:603580 skos:exactMatch UMLS:C1418309 Unspecified PCDH8 +OMIM:603582 skos:exactMatch HGNC:11993 Unspecified TOP3B +OMIM:603582 skos:exactMatch UMLS:C1420860 Unspecified TOP3B +OMIM:603582 skos:exactMatch HGNC_symbol:TOP3B Unspecified TOP3B +OMIM:603581 skos:exactMatch HGNC_symbol:PCDH9 Unspecified PCDH9 +OMIM:603581 skos:exactMatch HGNC:8661 Unspecified PCDH9 +OMIM:603581 skos:exactMatch UMLS:C1418310 Unspecified PCDH9 +OMIM:603584 skos:exactMatch UMLS:C5436585 Unspecified MADD +OMIM:603584 skos:exactMatch UMLS:C5436579 Unspecified MADD +OMIM:603584 skos:exactMatch HGNC_symbol:MADD Unspecified MADD +OMIM:603584 skos:exactMatch UMLS:C1366909 Unspecified MADD +OMIM:603584 skos:exactMatch HGNC:6766 Unspecified MADD +OMIM:603583 skos:exactMatch UMLS:C1414064 Unspecified DLG2 +OMIM:603583 skos:exactMatch HGNC:2901 Unspecified DLG2 +OMIM:603583 skos:exactMatch HGNC_symbol:DLG2 Unspecified DLG2 +OMIM:603585 skos:exactMatch UMLS:C1970344 Unspecified congenital disorder of glycosylation, iia iif +OMIM:613099 skos:exactMatch UMLS:C2751295 Unspecified melanoma, cutaneous malignant, susceptibility to, 5 +OMIM:613098 skos:exactMatch UMLS:C2751296 Unspecified increased analgesia from kappa-opioid receptor agonist, female-specific +OMIM:613096 skos:exactMatch UMLS:C2936879 Unspecified spastic paraplegia 36, autosomal dominant +OMIM:613095 skos:exactMatch UMLS:C2751306 Unspecified polycystic kidney disease 2 with or without polycystic liver disease +OMIM:613094 skos:exactMatch UMLS:C2751307 Unspecified microphthalmia, isolated 4 +OMIM:613093 skos:exactMatch UMLS:C2751309 Unspecified cone dystrophy 4 +OMIM:613093 skos:exactMatch UMLS:C2751308 Unspecified cone dystrophy 4 +OMIM:613092 skos:exactMatch UMLS:C2751310 Unspecified tubulointerstitial kidney disease, autosomal dominant, 4 +OMIM:193245 skos:exactMatch HGNC_symbol:VDAC2 Unspecified VDAC2 +OMIM:193245 skos:exactMatch UMLS:C1336931 Unspecified VDAC2 +OMIM:193245 skos:exactMatch HGNC:12672 Unspecified VDAC2 +OMIM:613091 skos:exactMatch UMLS:C0036069 Unspecified short-rib thoracic dysplasia 3 with or without polydactyly +OMIM:613091 skos:exactMatch UMLS:C0432197 Unspecified short-rib thoracic dysplasia 3 with or without polydactyly +OMIM:613090 skos:exactMatch UMLS:C4310805 Unspecified bartter syndrome, iia 4b, neonatal, with sensorineural deafness +OMIM:230750 skos:exactMatch UMLS:C0238577 Unspecified gastroschisis +OMIM:230750 skos:exactMatch UMLS:C0265706 Unspecified gastroschisis +OMIM:193240 skos:exactMatch UMLS:C1860403 Unspecified vocal cord paralysis and ptosis +OMIM:181270 skos:exactMatch UMLS:C1867020 Unspecified scalp-ear-nipple syndrome +OMIM:193250 skos:exactMatch UMLS:C0221210 Unspecified volvulus of midgut +OMIM:613089 skos:exactMatch UMLS:C2751313 Unspecified capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth +OMIM:613088 skos:exactMatch UMLS:C2751314 Unspecified pelvic organ prolapse, susceptibility to, 2 +OMIM:613087 skos:exactMatch UMLS:C2751315 Unspecified atrial septal defect 6 +OMIM:613086 skos:exactMatch UMLS:C2751316 Unspecified glaucoma 3, primary congenital, d +OMIM:613085 skos:exactMatch UMLS:C3888011 Unspecified glaucoma 3, primary congenital, c +OMIM:613084 skos:exactMatch HGNC_symbol:MYT1L Unspecified MYT1L +OMIM:613084 skos:exactMatch HGNC:7623 Unspecified MYT1L +OMIM:613084 skos:exactMatch UMLS:C1417585 Unspecified MYT1L +OMIM:613083 skos:exactMatch HGNC:13082 Unspecified LTN1 +OMIM:613083 skos:exactMatch HGNC_symbol:LTN1 Unspecified LTN1 +OMIM:613083 skos:exactMatch UMLS:C1421774 Unspecified LTN1 +OMIM:613082 skos:exactMatch HGNC_symbol:ATP2C2 Unspecified ATP2C2 +OMIM:613082 skos:exactMatch UMLS:C1825505 Unspecified ATP2C2 +OMIM:613082 skos:exactMatch HGNC:29103 Unspecified ATP2C2 +OMIM:613081 skos:exactMatch HGNC_symbol:KDM1B Unspecified KDM1B +OMIM:613081 skos:exactMatch HGNC:21577 Unspecified KDM1B +OMIM:613081 skos:exactMatch UMLS:C1427624 Unspecified KDM1B +OMIM:613080 skos:exactMatch UMLS:C2751317 Unspecified 46,xy sex reversal 5 +OMIM:230740 skos:exactMatch UMLS:C0406723 Unspecified gapo syndrome +OMIM:215140 skos:exactMatch UMLS:C2931048 Unspecified greenberg dysplasia +OMIM:613069 skos:exactMatch HGNC_symbol:PHF10 Unspecified PHF10 +OMIM:613069 skos:exactMatch HGNC:18250 Unspecified PHF10 +OMIM:613069 skos:exactMatch UMLS:C1425396 Unspecified PHF10 +OMIM:613079 skos:exactMatch UMLS:C2746083 Unspecified deafness, autosomal recessive 77 +OMIM:613078 skos:exactMatch UMLS:C2751318 Unspecified nijmegen breakage syndrome-like disorder +OMIM:613077 skos:exactMatch UMLS:C2751319 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +OMIM:613077 skos:exactMatch ORPHA:254892 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +OMIM:613076 skos:exactMatch UMLS:C2751320 Unspecified myopathy, mitochondrial progressive, with congenital cataract and developmental delay +OMIM:613076 skos:exactMatch ORPHA:330054 Unspecified myopathy, mitochondrial progressive, with congenital cataract and developmental delay +OMIM:613075 skos:exactMatch ORPHA:217335 Unspecified macs syndrome +OMIM:613075 skos:exactMatch UMLS:C2751321 Unspecified macs syndrome +OMIM:601090 skos:exactMatch UMLS:C1414668 Unspecified FOXC1 +OMIM:601090 skos:exactMatch HGNC_symbol:FOXC1 Unspecified FOXC1 +OMIM:601090 skos:exactMatch HGNC:3800 Unspecified FOXC1 +OMIM:613074 skos:exactMatch UMLS:C3888123 Unspecified deafness, autosomal dominant 50 +OMIM:613073 skos:exactMatch UMLS:C2751322 Unspecified metaphyseal anadysplasia 2 +OMIM:601091 skos:exactMatch UMLS:C1414670 Unspecified FOXD1 +OMIM:601091 skos:exactMatch HGNC_symbol:FOXD1 Unspecified FOXD1 +OMIM:601091 skos:exactMatch HGNC:3802 Unspecified FOXD1 +OMIM:613072 skos:exactMatch HGNC_symbol:LOXHD1 Unspecified LOXHD1 +OMIM:613072 skos:exactMatch HGNC:26521 Unspecified LOXHD1 +OMIM:613072 skos:exactMatch UMLS:C1537583 Unspecified LOXHD1 +OMIM:601092 skos:exactMatch UMLS:C1414673 Unspecified FOXD4 +OMIM:601092 skos:exactMatch HGNC_symbol:FOXD4 Unspecified FOXD4 +OMIM:601092 skos:exactMatch HGNC:3805 Unspecified FOXD4 +OMIM:601093 skos:exactMatch UMLS:C1414682 Unspecified FOXI1 +OMIM:601093 skos:exactMatch HGNC_symbol:FOXI1 Unspecified FOXI1 +OMIM:601093 skos:exactMatch HGNC:3815 Unspecified FOXI1 +OMIM:613071 skos:exactMatch UMLS:C2751324 Unspecified bronchiectasis with or without elevated sweat chloride 3 +OMIM:601094 skos:exactMatch UMLS:C1414676 Unspecified FOXE3 +OMIM:601094 skos:exactMatch HGNC_symbol:FOXE3 Unspecified FOXE3 +OMIM:601094 skos:exactMatch HGNC:3808 Unspecified FOXE3 +OMIM:613070 skos:exactMatch UMLS:C3278664 Unspecified liver failure, infantile, transient +OMIM:601095 skos:exactMatch UMLS:C0795970 Unspecified harrod syndrome +OMIM:601096 skos:exactMatch UMLS:C1832800 Unspecified spondyloepimetaphyseal dysplasia, micromelic +OMIM:601097 skos:exactMatch HGNC:9118 Unspecified PMP22 +OMIM:601097 skos:exactMatch UMLS:C0393814 Unspecified PMP22 +OMIM:601097 skos:exactMatch UMLS:C2677379 Unspecified PMP22 +OMIM:601097 skos:exactMatch HGNC_symbol:PMP22 Unspecified PMP22 +OMIM:601097 skos:exactMatch UMLS:C4016264 Unspecified PMP22 +OMIM:601097 skos:exactMatch UMLS:C4016716 Unspecified PMP22 +OMIM:601097 skos:exactMatch UMLS:C4016717 Unspecified PMP22 +OMIM:601097 skos:exactMatch UMLS:C3495591 Unspecified PMP22 +OMIM:601097 skos:exactMatch UMLS:C1832783 Unspecified PMP22 +OMIM:601097 skos:exactMatch UMLS:C0270911 Unspecified PMP22 +OMIM:601097 skos:exactMatch UMLS:C1418677 Unspecified PMP22 +OMIM:601097 skos:exactMatch UMLS:C0205713 Unspecified PMP22 +OMIM:193220 skos:exactMatch UMLS:C5435648 Unspecified vitreoretinochoroidopathy +OMIM:193220 skos:exactMatch ORPHA:263347 Unspecified vitreoretinochoroidopathy +OMIM:193220 skos:exactMatch ORPHA:3086 Unspecified vitreoretinochoroidopathy +OMIM:193220 skos:exactMatch UMLS:C3888099 Unspecified vitreoretinochoroidopathy +OMIM:601098 skos:exactMatch ORPHA:101083 Unspecified charcot-marie-tooth disease, demyelinating, iia 1c +OMIM:601098 skos:exactMatch UMLS:C0270913 Unspecified charcot-marie-tooth disease, demyelinating, iia 1c +OMIM:601099 skos:exactMatch HGNC:10902 Unspecified SLA +OMIM:601099 skos:exactMatch HGNC_symbol:SLA Unspecified SLA +OMIM:601099 skos:exactMatch UMLS:C1420083 Unspecified SLA +OMIM:254700 skos:exactMatch UMLS:C1850779 Unspecified myeloproliferative disease, autosomal recessive +OMIM:181250 skos:exactMatch UMLS:C1867021 Unspecified scalp defects and postaxial polydactyly +OMIM:601079 skos:exactMatch UMLS:C1824081 Unspecified zrsr2 pseudogene 1 +OMIM:601079 skos:exactMatch HGNC_symbol:ZRSR2P1 Unspecified zrsr2 pseudogene 1 +OMIM:601079 skos:exactMatch HGNC:12456 Unspecified zrsr2 pseudogene 1 +OMIM:239100 skos:exactMatch UMLS:C0432272 Unspecified van buchem disease +OMIM:215150 skos:exactMatch UMLS:C4520892 Unspecified otospondylomegaepiphyseal dysplasia, autosomal recessive +OMIM:613059 skos:exactMatch UMLS:C2751605 Unspecified basal cell carcinoma, susceptibility to, 3 +OMIM:613058 skos:exactMatch UMLS:C2751606 Unspecified basal cell carcinoma, susceptibility to, 2 +OMIM:613068 skos:exactMatch UMLS:C2751584 Unspecified neurodegeneration due to cerebral folate transport deficiency +OMIM:613068 skos:exactMatch ORPHA:217382 Unspecified neurodegeneration due to cerebral folate transport deficiency +OMIM:613067 skos:exactMatch UMLS:C2751593 Unspecified leukemia, acute lymphoblastic, susceptibility to, 2 +OMIM:613066 skos:exactMatch HGNC_symbol:PKNOX2 Unspecified PKNOX2 +OMIM:613066 skos:exactMatch HGNC:16714 Unspecified PKNOX2 +OMIM:613066 skos:exactMatch UMLS:C1424500 Unspecified PKNOX2 +OMIM:613065 skos:exactMatch UMLS:C1961102 Unspecified leukemia, acute lymphoblastic +OMIM:613065 skos:exactMatch UMLS:C2751596 Unspecified leukemia, acute lymphoblastic +OMIM:613065 skos:exactMatch UMLS:C2751595 Unspecified leukemia, acute lymphoblastic +OMIM:613065 skos:exactMatch UMLS:C2751594 Unspecified leukemia, acute lymphoblastic +OMIM:613065 skos:exactMatch UMLS:C2751598 Unspecified leukemia, acute lymphoblastic +OMIM:613065 skos:exactMatch UMLS:C2751597 Unspecified leukemia, acute lymphoblastic +OMIM:613064 skos:exactMatch UMLS:C2751599 Unspecified dermatitis, atopic, 7 +OMIM:613063 skos:exactMatch UMLS:C2751600 Unspecified basal cell carcinoma, susceptibility to, 6 +OMIM:601080 skos:exactMatch HGNC_symbol:U2AF1L4 Unspecified U2AF1L4 +OMIM:601080 skos:exactMatch HGNC:23020 Unspecified U2AF1L4 +OMIM:601080 skos:exactMatch UMLS:C1428166 Unspecified U2AF1L4 +OMIM:613062 skos:exactMatch UMLS:C2751601 Unspecified basal cell carcinoma, susceptibility to, 5 +OMIM:601081 skos:exactMatch HGNC:66 Unspecified ABCD2 +OMIM:601081 skos:exactMatch UMLS:C1412089 Unspecified ABCD2 +OMIM:601081 skos:exactMatch HGNC_symbol:ABCD2 Unspecified ABCD2 +OMIM:613061 skos:exactMatch UMLS:C2751602 Unspecified basal cell carcinoma, susceptibility to, 4 +OMIM:613060 skos:exactMatch UMLS:C2751604 Unspecified epilepsy, idiopathic generalized, susceptibility to, 10 +OMIM:613060 skos:exactMatch UMLS:C2751603 Unspecified epilepsy, idiopathic generalized, susceptibility to, 10 +OMIM:613060 skos:exactMatch UMLS:C3150399 Unspecified epilepsy, idiopathic generalized, susceptibility to, 10 +OMIM:601082 skos:exactMatch HGNC:12484 Unspecified UBE2H +OMIM:601082 skos:exactMatch UMLS:C1421282 Unspecified UBE2H +OMIM:601082 skos:exactMatch HGNC_symbol:UBE2H Unspecified UBE2H +OMIM:193235 skos:exactMatch UMLS:C4721549 Unspecified vitreoretinopathy, neovascular inflammatory +OMIM:193235 skos:exactMatch UMLS:C0242852 Unspecified vitreoretinopathy, neovascular inflammatory +OMIM:601083 skos:exactMatch UMLS:C1832816 Unspecified cd4/cd8 t-cell ratio +OMIM:601086 skos:exactMatch UMLS:C1832813 Unspecified laterality defects, autosomal dominant +OMIM:601088 skos:exactMatch ORPHA:1272 Unspecified ayme-gripp syndrome +OMIM:601088 skos:exactMatch UMLS:C1832812 Unspecified ayme-gripp syndrome +OMIM:193230 skos:exactMatch UMLS:C1860405 Unspecified vitreoretinal degeneration, snowflake iia +OMIM:601089 skos:exactMatch HGNC:3809 Unspecified FOXF1 +OMIM:601089 skos:exactMatch UMLS:C1414677 Unspecified FOXF1 +OMIM:601089 skos:exactMatch HGNC_symbol:FOXF1 Unspecified FOXF1 +OMIM:601089 skos:exactMatch UMLS:C0031190 Unspecified FOXF1 +OMIM:242700 skos:exactMatch UMLS:C2752083 Unspecified t-cell immunodeficiency with thymic aplasia +OMIM:242700 skos:exactMatch ORPHA:83471 Unspecified t-cell immunodeficiency with thymic aplasia +OMIM:242700 skos:exactMatch UMLS:C1744558 Unspecified t-cell immunodeficiency with thymic aplasia +OMIM:242700 skos:exactMatch UMLS:C0152094 Unspecified t-cell immunodeficiency with thymic aplasia +OMIM:203100 skos:exactMatch UMLS:C0268494 Unspecified albinism, oculocutaneous, iia 1a +OMIM:203100 skos:exactMatch UMLS:C4551504 Unspecified albinism, oculocutaneous, iia 1a +OMIM:120290 skos:exactMatch UMLS:C1413571 Unspecified COL11A2 +OMIM:120290 skos:exactMatch HGNC_symbol:COL11A2 Unspecified COL11A2 +OMIM:120290 skos:exactMatch HGNC:2187 Unspecified COL11A2 +OMIM:120280 skos:exactMatch UMLS:C1413570 Unspecified COL11A1 +OMIM:120280 skos:exactMatch HGNC_symbol:COL11A1 Unspecified COL11A1 +OMIM:120280 skos:exactMatch HGNC:2186 Unspecified COL11A1 +OMIM:120270 skos:exactMatch UMLS:C1413597 Unspecified COL9A3 +OMIM:120270 skos:exactMatch HGNC_symbol:COL9A3 Unspecified COL9A3 +OMIM:120270 skos:exactMatch HGNC:2219 Unspecified COL9A3 +OMIM:215105 skos:exactMatch UMLS:C1859132 Unspecified chondrodysplasia punctata syndrome +OMIM:215100 skos:exactMatch UMLS:C0282529 Unspecified rhizomelic chondrodysplasia punctata, iia 1 +OMIM:215100 skos:exactMatch UMLS:C1859133 Unspecified rhizomelic chondrodysplasia punctata, iia 1 +OMIM:107290 skos:exactMatch UMLS:C1862824 Unspecified antipyrine metabolism +OMIM:120260 skos:exactMatch HGNC:2218 Unspecified COL9A2 +OMIM:120260 skos:exactMatch UMLS:C1413596 Unspecified COL9A2 +OMIM:120260 skos:exactMatch HGNC_symbol:COL9A2 Unspecified COL9A2 +OMIM:120250 skos:exactMatch HGNC:2213 Unspecified COL6A3 +OMIM:120250 skos:exactMatch UMLS:C1413591 Unspecified COL6A3 +OMIM:120250 skos:exactMatch HGNC_symbol:COL6A3 Unspecified COL6A3 +OMIM:120252 skos:exactMatch HGNC_symbol:COL8A2 Unspecified COL8A2 +OMIM:120252 skos:exactMatch HGNC:2216 Unspecified COL8A2 +OMIM:120252 skos:exactMatch UMLS:C1413594 Unspecified COL8A2 +OMIM:120251 skos:exactMatch HGNC:2215 Unspecified COL8A1 +OMIM:120251 skos:exactMatch UMLS:C1413593 Unspecified COL8A1 +OMIM:120251 skos:exactMatch HGNC_symbol:COL8A1 Unspecified COL8A1 +OMIM:217700 skos:exactMatch UMLS:C1857569 Unspecified corneal endothelial dystrophy +OMIM:107272 skos:exactMatch UMLS:C1332716 Unspecified CD72 +OMIM:107272 skos:exactMatch HGNC_symbol:CD72 Unspecified CD72 +OMIM:107272 skos:exactMatch HGNC:1696 Unspecified CD72 +OMIM:107273 skos:exactMatch HGNC_symbol:CD69 Unspecified CD69 +OMIM:107273 skos:exactMatch HGNC:1694 Unspecified CD69 +OMIM:107273 skos:exactMatch UMLS:C1413235 Unspecified CD69 +OMIM:107270 skos:exactMatch HGNC_symbol:CD38 Unspecified CD38 +OMIM:107270 skos:exactMatch HGNC:1667 Unspecified CD38 +OMIM:107270 skos:exactMatch UMLS:C1413221 Unspecified CD38 +OMIM:107271 skos:exactMatch HGNC_symbol:CD59 Unspecified CD59 +OMIM:107271 skos:exactMatch HGNC:1689 Unspecified CD59 +OMIM:107271 skos:exactMatch UMLS:C1413230 Unspecified CD59 +OMIM:229700 skos:exactMatch UMLS:C0016756 Unspecified fructose-1,6-bisphosphatase deficiency +OMIM:120240 skos:exactMatch HGNC_symbol:COL6A2 Unspecified COL6A2 +OMIM:120240 skos:exactMatch HGNC:2212 Unspecified COL6A2 +OMIM:120240 skos:exactMatch UMLS:C1413590 Unspecified COL6A2 +OMIM:107269 skos:exactMatch HGNC_symbol:CD44 Unspecified CD44 +OMIM:107269 skos:exactMatch HGNC:1681 Unspecified CD44 +OMIM:107269 skos:exactMatch UMLS:C1332712 Unspecified CD44 +OMIM:107285 skos:exactMatch HGNC_symbol:SLPI Unspecified SLPI +OMIM:107285 skos:exactMatch HGNC:11092 Unspecified SLPI +OMIM:107285 skos:exactMatch UMLS:C1366565 Unspecified SLPI +OMIM:107280 skos:exactMatch HGNC_symbol:SERPINA3 Unspecified SERPINA3 +OMIM:107280 skos:exactMatch HGNC:16 Unspecified SERPINA3 +OMIM:107280 skos:exactMatch UMLS:C1412050 Unspecified SERPINA3 +OMIM:134900 skos:exactMatch UMLS:C1851184 Unspecified fibrinolytic defect +OMIM:107250 skos:exactMatch UMLS:C4551992 Unspecified anterior segment dysgenesis 1 +OMIM:107250 skos:exactMatch UMLS:C1862839 Unspecified anterior segment dysgenesis 1 +OMIM:107254 skos:exactMatch UMLS:C1417155 Unspecified antigen identified by monoclonal antibody 30.2a8 +OMIM:122880 skos:exactMatch ORPHA:1529 Unspecified craniofacial-deafness-hand syndrome +OMIM:122880 skos:exactMatch UMLS:C1852510 Unspecified craniofacial-deafness-hand syndrome +OMIM:120220 skos:exactMatch HGNC_symbol:COL6A1 Unspecified COL6A1 +OMIM:120220 skos:exactMatch HGNC:2211 Unspecified COL6A1 +OMIM:120220 skos:exactMatch UMLS:C1413589 Unspecified COL6A1 +OMIM:107260 skos:exactMatch UMLS:C1862836 Unspecified antigen msk41 identified by monoclonal antibody e3 +OMIM:107265 skos:exactMatch HGNC:1633 Unspecified CD19 +OMIM:107265 skos:exactMatch UMLS:C1413206 Unspecified CD19 +OMIM:107265 skos:exactMatch UMLS:C3150738 Unspecified CD19 +OMIM:107265 skos:exactMatch HGNC_symbol:CD19 Unspecified CD19 +OMIM:107266 skos:exactMatch HGNC:1643 Unspecified CD22 +OMIM:107266 skos:exactMatch UMLS:C1332708 Unspecified CD22 +OMIM:107266 skos:exactMatch HGNC_symbol:CD22 Unspecified CD22 +OMIM:134921 skos:exactMatch UMLS:C0812296 Unspecified FGF6 +OMIM:134921 skos:exactMatch HGNC_symbol:FGF6 Unspecified FGF6 +OMIM:134921 skos:exactMatch HGNC:3684 Unspecified FGF6 +OMIM:134920 skos:exactMatch HGNC_symbol:FGF2 Unspecified FGF2 +OMIM:134920 skos:exactMatch HGNC:3676 Unspecified FGF2 +OMIM:134920 skos:exactMatch UMLS:C0919506 Unspecified FGF2 +OMIM:120210 skos:exactMatch UMLS:C1413595 Unspecified COL9A1 +OMIM:120210 skos:exactMatch HGNC_symbol:COL9A1 Unspecified COL9A1 +OMIM:120210 skos:exactMatch HGNC:2217 Unspecified COL9A1 +OMIM:146900 skos:exactMatch HGNC:5478 Unspecified IGHA1 +OMIM:146900 skos:exactMatch HGNC_symbol:IGHA1 Unspecified IGHA1 +OMIM:146900 skos:exactMatch UMLS:C1415933 Unspecified IGHA1 +OMIM:120216 skos:exactMatch UMLS:C1423007 Unspecified COL5A3 +OMIM:120216 skos:exactMatch HGNC:14864 Unspecified COL5A3 +OMIM:120216 skos:exactMatch HGNC_symbol:COL5A3 Unspecified COL5A3 +OMIM:120215 skos:exactMatch UMLS:C1413587 Unspecified COL5A1 +OMIM:120215 skos:exactMatch HGNC_symbol:COL5A1 Unspecified COL5A1 +OMIM:120215 skos:exactMatch HGNC:2209 Unspecified COL5A1 +OMIM:158901 skos:exactMatch UMLS:C1834671 Unspecified facioscapulohumeral muscular dystrophy 2, digenic +OMIM:158900 skos:exactMatch UMLS:C1834673 Unspecified facioscapulohumeral muscular dystrophy 1 +OMIM:158900 skos:exactMatch UMLS:C0238288 Unspecified facioscapulohumeral muscular dystrophy 1 +OMIM:134935 skos:exactMatch HGNC_symbol:FGFR4 Unspecified FGFR4 +OMIM:134935 skos:exactMatch HGNC:3691 Unspecified FGFR4 +OMIM:134935 skos:exactMatch UMLS:C1333544 Unspecified FGFR4 +OMIM:134934 skos:exactMatch HGNC_symbol:FGFR3 Unspecified FGFR3 +OMIM:134934 skos:exactMatch HGNC:3690 Unspecified FGFR3 +OMIM:134934 skos:exactMatch UMLS:C1333543 Unspecified FGFR3 +OMIM:122860 skos:exactMatch UMLS:C2675746 Unspecified craniodiaphyseal dysplasia, autosomal dominant +OMIM:146910 skos:exactMatch UMLS:C1415936 Unspecified IGHD@ +OMIM:146910 skos:exactMatch HGNC_symbol:IGH Unspecified IGHD@ +OMIM:146910 skos:exactMatch HGNC:5477 Unspecified IGHD@ +OMIM:120200 skos:exactMatch UMLS:C0009363 Unspecified coloboma, ocular, autosomal dominant +OMIM:146929 skos:exactMatch HGNC_symbol:CXCR1 Unspecified CXCR1 +OMIM:146929 skos:exactMatch UMLS:C1334125 Unspecified CXCR1 +OMIM:146929 skos:exactMatch HGNC:6026 Unspecified CXCR1 +OMIM:146928 skos:exactMatch HGNC_symbol:CXCR2 Unspecified CXCR2 +OMIM:146928 skos:exactMatch UMLS:C1334126 Unspecified CXCR2 +OMIM:146928 skos:exactMatch HGNC:6027 Unspecified CXCR2 +OMIM:205700 skos:exactMatch UMLS:C0002880 Unspecified anemia, autoimmune hemolytic +OMIM:122850 skos:exactMatch UMLS:C1852512 Unspecified cranioacrofacial syndrome +OMIM:146920 skos:exactMatch HGNC:225 Unspecified ADAR +OMIM:146920 skos:exactMatch UMLS:C1412215 Unspecified ADAR +OMIM:146920 skos:exactMatch HGNC_symbol:ADAR Unspecified ADAR +OMIM:603601 skos:exactMatch UMLS:C1418571 Unspecified PIK3C2A +OMIM:603601 skos:exactMatch HGNC_symbol:PIK3C2A Unspecified PIK3C2A +OMIM:603601 skos:exactMatch HGNC:8971 Unspecified PIK3C2A +OMIM:603600 skos:exactMatch UMLS:C1863677 Unspecified osteoma of cranial vault, familial +OMIM:603603 skos:exactMatch UMLS:C1418616 Unspecified PLA2G10 +OMIM:603603 skos:exactMatch HGNC:9029 Unspecified PLA2G10 +OMIM:603603 skos:exactMatch HGNC_symbol:PLA2G10 Unspecified PLA2G10 +OMIM:603602 skos:exactMatch UMLS:C1418622 Unspecified PLA2G4C +OMIM:603602 skos:exactMatch HGNC:9037 Unspecified PLA2G4C +OMIM:603602 skos:exactMatch HGNC_symbol:PLA2G4C Unspecified PLA2G4C +OMIM:603605 skos:exactMatch UMLS:C1419881 Unspecified AIMP1 +OMIM:603605 skos:exactMatch HGNC:10648 Unspecified AIMP1 +OMIM:603605 skos:exactMatch HGNC_symbol:AIMP1 Unspecified AIMP1 +OMIM:603604 skos:exactMatch UMLS:C1418624 Unspecified PLA2G6 +OMIM:603604 skos:exactMatch HGNC_symbol:PLA2G6 Unspecified PLA2G6 +OMIM:603604 skos:exactMatch HGNC:9039 Unspecified PLA2G6 +OMIM:603607 skos:exactMatch UMLS:C1419746 Unspecified RPS6KA5 +OMIM:603607 skos:exactMatch HGNC:10434 Unspecified RPS6KA5 +OMIM:603607 skos:exactMatch HGNC_symbol:RPS6KA5 Unspecified RPS6KA5 +OMIM:158800 skos:exactMatch UMLS:C1834688 Unspecified muscular dystrophy, barnes iia +OMIM:603606 skos:exactMatch UMLS:C1419745 Unspecified RPS6KA4 +OMIM:603606 skos:exactMatch HGNC:10433 Unspecified RPS6KA4 +OMIM:603606 skos:exactMatch HGNC_symbol:RPS6KA4 Unspecified RPS6KA4 +OMIM:603609 skos:exactMatch HGNC:3825 Unspecified FPGT +OMIM:603609 skos:exactMatch HGNC_symbol:FPGT Unspecified FPGT +OMIM:603609 skos:exactMatch UMLS:C1414690 Unspecified FPGT +OMIM:134830 skos:exactMatch HGNC_symbol:FGB Unspecified FGB +OMIM:134830 skos:exactMatch UMLS:C1414593 Unspecified FGB +OMIM:134830 skos:exactMatch HGNC:3662 Unspecified FGB +OMIM:603608 skos:exactMatch HGNC_symbol:CBR3 Unspecified CBR3 +OMIM:603608 skos:exactMatch HGNC:1549 Unspecified CBR3 +OMIM:603608 skos:exactMatch UMLS:C1413155 Unspecified CBR3 +OMIM:313470 skos:exactMatch HGNC_symbol:CD99 Unspecified CD99 +OMIM:313470 skos:exactMatch HGNC:7082 Unspecified CD99 +OMIM:313470 skos:exactMatch UMLS:C1417157 Unspecified CD99 +OMIM:107325 skos:exactMatch UMLS:C1539080 Unspecified CD3EAP +OMIM:107325 skos:exactMatch HGNC_symbol:POLR1G Unspecified CD3EAP +OMIM:107325 skos:exactMatch HGNC:24219 Unspecified CD3EAP +OMIM:120300 skos:exactMatch UMLS:C1852767 Unspecified coloboma of macula +OMIM:107323 skos:exactMatch UMLS:C1412691 Unspecified ALDH7A1 +OMIM:107323 skos:exactMatch HGNC_symbol:ALDH7A1 Unspecified ALDH7A1 +OMIM:107323 skos:exactMatch HGNC:877 Unspecified ALDH7A1 +OMIM:146810 skos:exactMatch UMLS:C1840268 Unspecified immune response to synthetic polypeptide--irphegal +OMIM:313480 skos:exactMatch UMLS:C1839238 Unspecified taqi polymorphism +OMIM:313475 skos:exactMatch HGNC:11506 Unspecified SYP +OMIM:313475 skos:exactMatch UMLS:C1420554 Unspecified SYP +OMIM:313475 skos:exactMatch HGNC_symbol:SYP Unspecified SYP +OMIM:146820 skos:exactMatch UMLS:C1840267 Unspecified immune response to synthetic polypeptide--irgat +OMIM:264090 skos:exactMatch ORPHA:3455 Unspecified wiedemann-rautenstrauch syndrome +OMIM:264090 skos:exactMatch UMLS:C0406586 Unspecified wiedemann-rautenstrauch syndrome +OMIM:134850 skos:exactMatch HGNC:3694 Unspecified FGG +OMIM:134850 skos:exactMatch HGNC_symbol:FGG Unspecified FGG +OMIM:134850 skos:exactMatch UMLS:C1414607 Unspecified FGG +OMIM:107310 skos:exactMatch HGNC:11071 Unspecified SLC9A1 +OMIM:107310 skos:exactMatch UMLS:C4225383 Unspecified SLC9A1 +OMIM:107310 skos:exactMatch UMLS:C1420232 Unspecified SLC9A1 +OMIM:107310 skos:exactMatch UMLS:C2986382 Unspecified SLC9A1 +OMIM:107310 skos:exactMatch HGNC_symbol:SLC9A1 Unspecified SLC9A1 +OMIM:313440 skos:exactMatch HGNC:11494 Unspecified SYN1 +OMIM:313440 skos:exactMatch HGNC_symbol:SYN1 Unspecified SYN1 +OMIM:313440 skos:exactMatch UMLS:C1420543 Unspecified SYN1 +OMIM:146830 skos:exactMatch UMLS:C1840266 Unspecified immune deficiency, familial variable +OMIM:119300 skos:exactMatch UMLS:C4551864 Unspecified van der woude syndrome 1 +OMIM:119300 skos:exactMatch UMLS:C0175697 Unspecified van der woude syndrome 1 +OMIM:107300 skos:exactMatch UMLS:C1412610 Unspecified SERPINC1 +OMIM:107300 skos:exactMatch HGNC_symbol:SERPINC1 Unspecified SERPINC1 +OMIM:107300 skos:exactMatch HGNC:775 Unspecified SERPINC1 +OMIM:264080 skos:exactMatch UMLS:C1849699 Unspecified progesterone resistance +OMIM:107320 skos:exactMatch UMLS:C2930802 Unspecified antiphospholipid syndrome, familial +OMIM:158810 skos:exactMatch UMLS:C1834674 Unspecified bethlem myopathy 1 +OMIM:264070 skos:exactMatch ORPHA:1578 Unspecified hyperphenylalaninemia, bh4-deficient, d +OMIM:264070 skos:exactMatch ORPHA:238583 Unspecified hyperphenylalaninemia, bh4-deficient, d +OMIM:264070 skos:exactMatch UMLS:C1849700 Unspecified hyperphenylalaninemia, bh4-deficient, d +OMIM:603643 skos:exactMatch UMLS:C1863647 Unspecified situs inversus totalis with cystic dysplasia of kidneys and pancreas +OMIM:603642 skos:exactMatch UMLS:C1863648 Unspecified atrial septal defect, secundum, with various cardiac and noncardiac defects +OMIM:603645 skos:exactMatch HGNC:8849 Unspecified GATB +OMIM:603645 skos:exactMatch UMLS:C5394236 Unspecified GATB +OMIM:603645 skos:exactMatch HGNC_symbol:GATB Unspecified GATB +OMIM:603645 skos:exactMatch UMLS:C1418468 Unspecified GATB +OMIM:264050 skos:exactMatch UMLS:C1849701 Unspecified prenatal bowing +OMIM:603644 skos:exactMatch HGNC_symbol:SCO1 Unspecified SCO1 +OMIM:603644 skos:exactMatch UMLS:C1419872 Unspecified SCO1 +OMIM:603644 skos:exactMatch HGNC:10603 Unspecified SCO1 +OMIM:603644 skos:exactMatch UMLS:C5436683 Unspecified SCO1 +OMIM:603647 skos:exactMatch UMLS:C3541471 Unspecified BCS1L +OMIM:603647 skos:exactMatch HGNC:1020 Unspecified BCS1L +OMIM:603647 skos:exactMatch UMLS:C1864002 Unspecified BCS1L +OMIM:603647 skos:exactMatch UMLS:C0266006 Unspecified BCS1L +OMIM:603647 skos:exactMatch UMLS:C1412777 Unspecified BCS1L +OMIM:603647 skos:exactMatch HGNC_symbol:BCS1L Unspecified BCS1L +OMIM:603647 skos:exactMatch UMLS:C4016851 Unspecified BCS1L +OMIM:603646 skos:exactMatch UMLS:C3554534 Unspecified COX15 +OMIM:603646 skos:exactMatch HGNC:2263 Unspecified COX15 +OMIM:603646 skos:exactMatch UMLS:C1413632 Unspecified COX15 +OMIM:603646 skos:exactMatch HGNC_symbol:COX15 Unspecified COX15 +OMIM:603649 skos:exactMatch UMLS:C1863634 Unspecified cone-rod dystrophy 7 +OMIM:603648 skos:exactMatch HGNC:2261 Unspecified COX11 +OMIM:603648 skos:exactMatch UMLS:C1413630 Unspecified COX11 +OMIM:603648 skos:exactMatch HGNC_symbol:COX11 Unspecified COX11 +OMIM:171810 skos:exactMatch HGNC:441 Unspecified ALPPL2 +OMIM:171810 skos:exactMatch UMLS:C1412366 Unspecified ALPPL2 +OMIM:171810 skos:exactMatch HGNC_symbol:ALPG Unspecified ALPPL2 +OMIM:615630 skos:exactMatch UMLS:C3810175 Unspecified short-rib thoracic dysplasia 10 with or without polydactyly +OMIM:615631 skos:exactMatch UMLS:C3810185 Unspecified anemia, congenital dyserythropoietic, iia ib +OMIM:615622 skos:exactMatch UMLS:C3810159 Unspecified THRIL +OMIM:615622 skos:exactMatch HGNC_symbol:THRIL Unspecified THRIL +OMIM:615622 skos:exactMatch HGNC:49503 Unspecified THRIL +OMIM:615623 skos:exactMatch UMLS:C1823779 Unspecified COA7 +OMIM:615623 skos:exactMatch HGNC_symbol:COA7 Unspecified COA7 +OMIM:615623 skos:exactMatch HGNC:25716 Unspecified COA7 +OMIM:615624 skos:exactMatch HGNC_symbol:CRNDE Unspecified CRNDE +OMIM:615624 skos:exactMatch UMLS:C2829187 Unspecified CRNDE +OMIM:615624 skos:exactMatch HGNC:37078 Unspecified CRNDE +OMIM:615625 skos:exactMatch UMLS:C3810161 Unspecified spastic paraplegia 72, autosomal recessive +OMIM:615625 skos:exactMatch UMLS:C3810160 Unspecified spastic paraplegia 72, autosomal recessive +OMIM:615626 skos:exactMatch UMLS:C1824405 Unspecified CDIN1 +OMIM:615626 skos:exactMatch HGNC_symbol:CDIN1 Unspecified CDIN1 +OMIM:615626 skos:exactMatch HGNC:26929 Unspecified CDIN1 +OMIM:615627 skos:exactMatch UMLS:C1422512 Unspecified BRI3BP +OMIM:615627 skos:exactMatch HGNC:14251 Unspecified BRI3BP +OMIM:615627 skos:exactMatch HGNC_symbol:BRI3BP Unspecified BRI3BP +OMIM:146850 skos:exactMatch UMLS:C1840264 Unspecified immune suppression +OMIM:615628 skos:exactMatch HGNC:1109 Unspecified BRI3 +OMIM:615628 skos:exactMatch UMLS:C1412826 Unspecified BRI3 +OMIM:615628 skos:exactMatch HGNC_symbol:BRI3 Unspecified BRI3 +OMIM:183800 skos:exactMatch UMLS:C1866740 Unspecified split-hand with congenital nystagmus, fundal changes, and cataracts +OMIM:615629 skos:exactMatch UMLS:C3810170 Unspecified deafness, autosomal dominant 56 +OMIM:183802 skos:exactMatch UMLS:C1866739 Unspecified split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects +OMIM:603650 skos:exactMatch HGNC_symbol:BBS5 Unspecified BBS5 +OMIM:603650 skos:exactMatch HGNC:970 Unspecified BBS5 +OMIM:603650 skos:exactMatch UMLS:C1412750 Unspecified BBS5 +OMIM:264060 skos:exactMatch UMLS:C1828066 Unspecified prepapillary vascular loops +OMIM:603652 skos:exactMatch HGNC_symbol:TRPC6 Unspecified TRPC6 +OMIM:603652 skos:exactMatch HGNC:12338 Unspecified TRPC6 +OMIM:603652 skos:exactMatch UMLS:C1421173 Unspecified TRPC6 +OMIM:603651 skos:exactMatch HGNC:12336 Unspecified TRPC4 +OMIM:603651 skos:exactMatch UMLS:C1421171 Unspecified TRPC4 +OMIM:603651 skos:exactMatch HGNC_symbol:TRPC4 Unspecified TRPC4 +OMIM:603632 skos:exactMatch UMLS:C1419699 Unspecified RPS10 +OMIM:603632 skos:exactMatch HGNC_symbol:RPS10 Unspecified RPS10 +OMIM:603632 skos:exactMatch HGNC:10383 Unspecified RPS10 +OMIM:603631 skos:exactMatch UMLS:C1419753 Unspecified RPS9 +OMIM:603631 skos:exactMatch HGNC_symbol:RPS9 Unspecified RPS9 +OMIM:603631 skos:exactMatch HGNC:10442 Unspecified RPS9 +OMIM:603634 skos:exactMatch HGNC:10360 Unspecified RPL5 +OMIM:603634 skos:exactMatch UMLS:C1419683 Unspecified RPL5 +OMIM:603634 skos:exactMatch HGNC_symbol:RPL5 Unspecified RPL5 +OMIM:603633 skos:exactMatch HGNC:10419 Unspecified RPS29 +OMIM:603633 skos:exactMatch UMLS:C1419732 Unspecified RPS29 +OMIM:603633 skos:exactMatch HGNC_symbol:RPS29 Unspecified RPS29 +OMIM:603636 skos:exactMatch HGNC:10313 Unspecified RPL21 +OMIM:603636 skos:exactMatch HGNC_symbol:RPL21 Unspecified RPL21 +OMIM:603636 skos:exactMatch UMLS:C1419637 Unspecified RPL21 +OMIM:603635 skos:exactMatch UMLS:C1419491 Unspecified SNORD21 +OMIM:603635 skos:exactMatch HGNC_symbol:SNORD21 Unspecified SNORD21 +OMIM:603635 skos:exactMatch HGNC:10144 Unspecified SNORD21 +OMIM:603638 skos:exactMatch HGNC:10330 Unspecified RPL28 +OMIM:603638 skos:exactMatch HGNC_symbol:RPL28 Unspecified RPL28 +OMIM:603638 skos:exactMatch UMLS:C1419654 Unspecified RPL28 +OMIM:603637 skos:exactMatch HGNC:10329 Unspecified RPL27A +OMIM:603637 skos:exactMatch UMLS:C1419653 Unspecified RPL27A +OMIM:603637 skos:exactMatch HGNC_symbol:RPL27A Unspecified RPL27A +OMIM:171800 skos:exactMatch HGNC:439 Unspecified ALPP +OMIM:171800 skos:exactMatch UMLS:C1412365 Unspecified ALPP +OMIM:171800 skos:exactMatch HGNC_symbol:ALPP Unspecified ALPP +OMIM:603639 skos:exactMatch HGNC:195 Unspecified ADAM17 +OMIM:603639 skos:exactMatch UMLS:C1412186 Unspecified ADAM17 +OMIM:603639 skos:exactMatch HGNC_symbol:ADAM17 Unspecified ADAM17 +OMIM:615620 skos:exactMatch UMLS:C1416708 Unspecified KPTN +OMIM:615620 skos:exactMatch HGNC_symbol:KPTN Unspecified KPTN +OMIM:615620 skos:exactMatch HGNC:6404 Unspecified KPTN +OMIM:615610 skos:exactMatch HGNC_symbol:CDHR3 Unspecified CDHR3 +OMIM:615610 skos:exactMatch HGNC:26308 Unspecified CDHR3 +OMIM:615610 skos:exactMatch UMLS:C2828961 Unspecified CDHR3 +OMIM:615611 skos:exactMatch HGNC:2088 Unspecified CLPX +OMIM:615611 skos:exactMatch UMLS:C1413508 Unspecified CLPX +OMIM:615611 skos:exactMatch HGNC_symbol:CLPX Unspecified CLPX +OMIM:615612 skos:exactMatch UMLS:C3715079 Unspecified developmental dysplasia of the hip 2 +OMIM:615613 skos:exactMatch HGNC:48612 Unspecified HCCAT5 +OMIM:615613 skos:exactMatch UMLS:C3810126 Unspecified HCCAT5 +OMIM:615613 skos:exactMatch HGNC_symbol:HCCAT5 Unspecified HCCAT5 +OMIM:615614 skos:exactMatch HGNC_symbol:MMS22L Unspecified MMS22L +OMIM:615614 skos:exactMatch HGNC:21475 Unspecified MMS22L +OMIM:615614 skos:exactMatch UMLS:C1427566 Unspecified MMS22L +OMIM:615615 skos:exactMatch UMLS:C3810127 Unspecified immunodeficiency 18 +OMIM:615615 skos:exactMatch UMLS:C3810128 Unspecified immunodeficiency 18 +OMIM:615615 skos:exactMatch UMLS:C3810129 Unspecified immunodeficiency 18 +OMIM:615616 skos:exactMatch ORPHA:217656 Unspecified arrhythmogenic right ventricular dysplasia, familial, 13 +OMIM:615616 skos:exactMatch ORPHA:293910 Unspecified arrhythmogenic right ventricular dysplasia, familial, 13 +OMIM:615616 skos:exactMatch UMLS:C3810138 Unspecified arrhythmogenic right ventricular dysplasia, familial, 13 +OMIM:144200 skos:exactMatch UMLS:C1721006 Unspecified palmoplantar keratoderma, epidermolytic +OMIM:144200 skos:exactMatch UMLS:C1840427 Unspecified palmoplantar keratoderma, epidermolytic +OMIM:615617 skos:exactMatch UMLS:C3810147 Unspecified immunodeficiency 19 +OMIM:615618 skos:exactMatch HGNC_symbol:POGLUT1 Unspecified POGLUT1 +OMIM:615618 skos:exactMatch UMLS:C1824120 Unspecified POGLUT1 +OMIM:615618 skos:exactMatch HGNC:22954 Unspecified POGLUT1 +OMIM:615619 skos:exactMatch UMLS:C3810156 Unspecified cholangiocarcinoma, susceptibility to +OMIM:603641 skos:exactMatch UMLS:C1863649 Unspecified neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia +OMIM:603640 skos:exactMatch UMLS:C1412188 Unspecified ADAM19 +OMIM:603640 skos:exactMatch HGNC_symbol:ADAM19 Unspecified ADAM19 +OMIM:603640 skos:exactMatch HGNC:197 Unspecified ADAM19 +OMIM:603621 skos:exactMatch HGNC:3814 Unspecified FOXH1 +OMIM:603621 skos:exactMatch UMLS:C1414681 Unspecified FOXH1 +OMIM:603621 skos:exactMatch HGNC_symbol:FOXH1 Unspecified FOXH1 +OMIM:603620 skos:exactMatch HGNC:9527 Unspecified PSIP1 +OMIM:603620 skos:exactMatch UMLS:C1335268 Unspecified PSIP1 +OMIM:603620 skos:exactMatch HGNC_symbol:PSIP1 Unspecified PSIP1 +OMIM:603623 skos:exactMatch HGNC:12840 Unspecified YARS1 +OMIM:603623 skos:exactMatch HGNC_symbol:YARS1 Unspecified YARS1 +OMIM:603623 skos:exactMatch UMLS:C1842237 Unspecified YARS1 +OMIM:603623 skos:exactMatch UMLS:C1337037 Unspecified YARS1 +OMIM:603623 skos:exactMatch UMLS:C2986382 Unspecified YARS1 +OMIM:603622 skos:exactMatch UMLS:C1863660 Unspecified deafness, autosomal dominant 17 +OMIM:603622 skos:exactMatch UMLS:C1863659 Unspecified deafness, autosomal dominant 17 +OMIM:603625 skos:exactMatch UMLS:C1416938 Unspecified LY6H +OMIM:603625 skos:exactMatch HGNC_symbol:LY6H Unspecified LY6H +OMIM:603625 skos:exactMatch HGNC:6728 Unspecified LY6H +OMIM:156200 skos:exactMatch UMLS:C3277090 Unspecified intellectual developmental disorder, autosomal dominant 1 +OMIM:156200 skos:exactMatch UMLS:C1969562 Unspecified intellectual developmental disorder, autosomal dominant 1 +OMIM:603624 skos:exactMatch HGNC_symbol:RPS2 Unspecified RPS2 +OMIM:603624 skos:exactMatch HGNC:10404 Unspecified RPS2 +OMIM:603624 skos:exactMatch UMLS:C1419718 Unspecified RPS2 +OMIM:603627 skos:exactMatch UMLS:C1418365 Unspecified PCDHGC3 +OMIM:603627 skos:exactMatch HGNC_symbol:PCDHGC3 Unspecified PCDHGC3 +OMIM:603627 skos:exactMatch HGNC:8716 Unspecified PCDHGC3 +OMIM:603626 skos:exactMatch UMLS:C1418305 Unspecified PCDH1 +OMIM:603626 skos:exactMatch HGNC_symbol:PCDH1 Unspecified PCDH1 +OMIM:603626 skos:exactMatch HGNC:8655 Unspecified PCDH1 +OMIM:171833 skos:exactMatch HGNC_symbol:PIK3R1 Unspecified PIK3R1 +OMIM:171833 skos:exactMatch HGNC:8979 Unspecified PIK3R1 +OMIM:171833 skos:exactMatch UMLS:C1418576 Unspecified PIK3R1 +OMIM:603629 skos:exactMatch UMLS:C1863655 Unspecified deafness, autosomal recessive 21 +OMIM:171834 skos:exactMatch UMLS:C1860985 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C2674643 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C2674644 Unspecified PIK3CA +OMIM:171834 skos:exactMatch HGNC_symbol:PIK3CA Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C3554518 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C1969389 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C1969388 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C1335212 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C3550023 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C3550024 Unspecified PIK3CA +OMIM:171834 skos:exactMatch HGNC:8975 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C4016282 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C1833970 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C1868358 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C4749056 Unspecified PIK3CA +OMIM:171834 skos:exactMatch UMLS:C4749057 Unspecified PIK3CA +OMIM:603628 skos:exactMatch HGNC:7321 Unspecified MSC +OMIM:603628 skos:exactMatch UMLS:C1334531 Unspecified MSC +OMIM:603628 skos:exactMatch HGNC_symbol:MSC Unspecified MSC +OMIM:313490 skos:exactMatch UMLS:C1839235 Unspecified taurodontism, microdontia, and dens invaginatus +OMIM:171835 skos:exactMatch HGNC:8873 Unspecified PFKFB2 +OMIM:171835 skos:exactMatch HGNC_symbol:PFKFB2 Unspecified PFKFB2 +OMIM:171835 skos:exactMatch UMLS:C1418488 Unspecified PFKFB2 +OMIM:615600 skos:exactMatch HGNC_symbol:ZNF582 Unspecified ZNF582 +OMIM:615600 skos:exactMatch UMLS:C1428586 Unspecified ZNF582 +OMIM:615600 skos:exactMatch HGNC:26421 Unspecified ZNF582 +OMIM:615601 skos:exactMatch HGNC_symbol:GADL1 Unspecified GADL1 +OMIM:615601 skos:exactMatch HGNC:27949 Unspecified GADL1 +OMIM:615601 skos:exactMatch UMLS:C1539545 Unspecified GADL1 +OMIM:615602 skos:exactMatch UMLS:C3810089 Unspecified memory quantitative trait locus +OMIM:615603 skos:exactMatch HGNC_symbol:CPPED1 Unspecified CPPED1 +OMIM:615603 skos:exactMatch UMLS:C2681368 Unspecified CPPED1 +OMIM:615603 skos:exactMatch HGNC:25632 Unspecified CPPED1 +OMIM:615604 skos:exactMatch UMLS:C3810090 Unspecified l-ferritin deficiency +OMIM:171830 skos:exactMatch UMLS:C1868364 Unspecified None +OMIM:615605 skos:exactMatch UMLS:C3810100 Unspecified fanconi renotubular syndrome 3 +OMIM:615605 skos:exactMatch ORPHA:3337 Unspecified fanconi renotubular syndrome 3 +OMIM:615606 skos:exactMatch UMLS:C1428553 Unspecified BTNL8 +OMIM:615606 skos:exactMatch HGNC:26131 Unspecified BTNL8 +OMIM:615606 skos:exactMatch HGNC_symbol:BTNL8 Unspecified BTNL8 +OMIM:615607 skos:exactMatch UMLS:C3810107 Unspecified immunodeficiency 17 +OMIM:615608 skos:exactMatch UMLS:C1824302 Unspecified VSIR +OMIM:615608 skos:exactMatch HGNC_symbol:VSIR Unspecified VSIR +OMIM:615608 skos:exactMatch HGNC:30085 Unspecified VSIR +OMIM:122900 skos:exactMatch UMLS:C0432263 Unspecified craniofacial dysostosis with diaphyseal hyperplasia +OMIM:615609 skos:exactMatch HGNC:30553 Unspecified SIAH3 +OMIM:615609 skos:exactMatch HGNC_symbol:SIAH3 Unspecified SIAH3 +OMIM:615609 skos:exactMatch UMLS:C2680381 Unspecified SIAH3 +OMIM:603630 skos:exactMatch UMLS:C1419738 Unspecified RPS5 +OMIM:603630 skos:exactMatch HGNC_symbol:RPS5 Unspecified RPS5 +OMIM:603630 skos:exactMatch HGNC:10426 Unspecified RPS5 +OMIM:603610 skos:exactMatch UMLS:C1421359 Unspecified UNC5C +OMIM:603610 skos:exactMatch HGNC_symbol:UNC5C Unspecified UNC5C +OMIM:603610 skos:exactMatch HGNC:12569 Unspecified UNC5C +OMIM:603612 skos:exactMatch HGNC:11905 Unspecified TNFRSF10B +OMIM:603612 skos:exactMatch UMLS:C1336644 Unspecified TNFRSF10B +OMIM:603612 skos:exactMatch HGNC_symbol:TNFRSF10B Unspecified TNFRSF10B +OMIM:603611 skos:exactMatch HGNC:11904 Unspecified TNFRSF10A +OMIM:603611 skos:exactMatch UMLS:C1336643 Unspecified TNFRSF10A +OMIM:603611 skos:exactMatch HGNC_symbol:TNFRSF10A Unspecified TNFRSF10A +OMIM:603614 skos:exactMatch HGNC_symbol:TNFRSF10D Unspecified TNFRSF10D +OMIM:603614 skos:exactMatch HGNC:11907 Unspecified TNFRSF10D +OMIM:603614 skos:exactMatch UMLS:C1420804 Unspecified TNFRSF10D +OMIM:603613 skos:exactMatch HGNC_symbol:TNFRSF10C Unspecified TNFRSF10C +OMIM:603613 skos:exactMatch HGNC:11906 Unspecified TNFRSF10C +OMIM:603613 skos:exactMatch UMLS:C1420803 Unspecified TNFRSF10C +OMIM:603616 skos:exactMatch UMLS:C1868261 Unspecified RABEP1 +OMIM:603616 skos:exactMatch HGNC_symbol:RABEP1 Unspecified RABEP1 +OMIM:603616 skos:exactMatch HGNC:17677 Unspecified RABEP1 +OMIM:603616 skos:exactMatch UMLS:C1425034 Unspecified RABEP1 +OMIM:603615 skos:exactMatch UMLS:C1419244 Unspecified RAD54L +OMIM:603615 skos:exactMatch HGNC_symbol:RAD54L Unspecified RAD54L +OMIM:603615 skos:exactMatch HGNC:9826 Unspecified RAD54L +OMIM:603618 skos:exactMatch HGNC:1723 Unspecified CDC20 +OMIM:603618 skos:exactMatch UMLS:C1413256 Unspecified CDC20 +OMIM:603618 skos:exactMatch HGNC_symbol:CDC20 Unspecified CDC20 +OMIM:603617 skos:exactMatch HGNC_symbol:SLC24A1 Unspecified SLC24A1 +OMIM:603617 skos:exactMatch UMLS:C1420146 Unspecified SLC24A1 +OMIM:603617 skos:exactMatch HGNC:10975 Unspecified SLC24A1 +OMIM:171820 skos:exactMatch UMLS:C1868365 Unspecified SACP +OMIM:603619 skos:exactMatch HGNC:24824 Unspecified FZR1 +OMIM:603619 skos:exactMatch UMLS:C1428414 Unspecified FZR1 +OMIM:603619 skos:exactMatch HGNC_symbol:FZR1 Unspecified FZR1 +OMIM:146880 skos:exactMatch HGNC_symbol:HLA-DQA1 Unspecified HLA-DQA1 +OMIM:146880 skos:exactMatch HGNC:4942 Unspecified HLA-DQA1 +OMIM:146880 skos:exactMatch UMLS:C1415570 Unspecified HLA-DQA1 +OMIM:276000 skos:exactMatch UMLS:C1418965 Unspecified PRSS1 +OMIM:276000 skos:exactMatch HGNC_symbol:PRSS1 Unspecified PRSS1 +OMIM:276000 skos:exactMatch HGNC:9475 Unspecified PRSS1 +OMIM:601024 skos:exactMatch UMLS:C1412444 Unspecified AP2M1 +OMIM:601024 skos:exactMatch UMLS:C5231497 Unspecified AP2M1 +OMIM:601024 skos:exactMatch HGNC_symbol:AP2M1 Unspecified AP2M1 +OMIM:601024 skos:exactMatch HGNC:564 Unspecified AP2M1 +OMIM:603687 skos:exactMatch UMLS:C1332076 Unspecified ALDH1A2 +OMIM:603687 skos:exactMatch HGNC_symbol:ALDH1A2 Unspecified ALDH1A2 +OMIM:603687 skos:exactMatch HGNC:15472 Unspecified ALDH1A2 +OMIM:603686 skos:exactMatch UMLS:C1419689 Unspecified RPL9 +OMIM:603686 skos:exactMatch HGNC_symbol:RPL9 Unspecified RPL9 +OMIM:603686 skos:exactMatch HGNC:10369 Unspecified RPL9 +OMIM:601025 skos:exactMatch UMLS:C1412443 Unspecified AP2B1 +OMIM:601025 skos:exactMatch HGNC_symbol:AP2B1 Unspecified AP2B1 +OMIM:601025 skos:exactMatch HGNC:563 Unspecified AP2B1 +OMIM:603689 skos:exactMatch UMLS:C1863599 Unspecified myopathy, myofibrillar, 9, with early respiratory failure +OMIM:601026 skos:exactMatch UMLS:C1412441 Unspecified AP2A1 +OMIM:601026 skos:exactMatch HGNC_symbol:AP2A1 Unspecified AP2A1 +OMIM:601026 skos:exactMatch HGNC:561 Unspecified AP2A1 +OMIM:601027 skos:exactMatch UMLS:C1832859 Unspecified tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies +OMIM:603688 skos:exactMatch UMLS:C1863600 Unspecified prostate cancer/brain cancer susceptibility +OMIM:156220 skos:exactMatch UMLS:C1835026 Unspecified meralgia paraesthetica, familial +OMIM:183840 skos:exactMatch UMLS:C1866738 Unspecified spondyloarthropathy, susceptibility to, 2 +OMIM:601028 skos:exactMatch HGNC:1682 Unspecified CD47 +OMIM:601028 skos:exactMatch UMLS:C1332713 Unspecified CD47 +OMIM:601028 skos:exactMatch HGNC_symbol:CD47 Unspecified CD47 +OMIM:601029 skos:exactMatch HGNC:7028 Unspecified MEST +OMIM:601029 skos:exactMatch UMLS:C1417122 Unspecified MEST +OMIM:601029 skos:exactMatch HGNC_symbol:MEST Unspecified MEST +OMIM:264010 skos:exactMatch UMLS:C0796189 Unspecified prader-willi habitus, osteopenia, and camptodactyly +OMIM:156225 skos:exactMatch UMLS:C1416776 Unspecified LAMA2 +OMIM:156225 skos:exactMatch HGNC:6482 Unspecified LAMA2 +OMIM:156225 skos:exactMatch HGNC_symbol:LAMA2 Unspecified LAMA2 +OMIM:613009 skos:exactMatch HGNC_symbol:SEPSECS Unspecified SEPSECS +OMIM:613009 skos:exactMatch HGNC:30605 Unspecified SEPSECS +OMIM:613009 skos:exactMatch UMLS:C2239920 Unspecified SEPSECS +OMIM:615670 skos:exactMatch UMLS:C3810283 Unspecified schwannomatosis 2 +OMIM:613008 skos:exactMatch UMLS:C2751695 Unspecified biliary cirrhosis, primary, 3 +OMIM:110900 skos:exactMatch UMLS:C0022546 Unspecified blood group--kell system +OMIM:110900 skos:exactMatch UMLS:C1862225 Unspecified blood group--kell system +OMIM:615671 skos:exactMatch HGNC:20493 Unspecified SETD3 +OMIM:615671 skos:exactMatch UMLS:C1822687 Unspecified SETD3 +OMIM:615671 skos:exactMatch HGNC_symbol:SETD3 Unspecified SETD3 +OMIM:613007 skos:exactMatch UMLS:C2751696 Unspecified biliary cirrhosis, primary, 2 +OMIM:168200 skos:exactMatch UMLS:C0266029 Unspecified paramolar tubercle of bolk +OMIM:613006 skos:exactMatch UMLS:C2751697 Unspecified iia 1 diabetes mellitus 24 +OMIM:615672 skos:exactMatch UMLS:C1826051 Unspecified MIR497 +OMIM:615672 skos:exactMatch HGNC_symbol:MIR497 Unspecified MIR497 +OMIM:615672 skos:exactMatch HGNC:32088 Unspecified MIR497 +OMIM:613005 skos:exactMatch UMLS:C2751698 Unspecified santos syndrome +OMIM:615673 skos:exactMatch ORPHA:401768 Unspecified myopathy with extrapyramidal signs +OMIM:615673 skos:exactMatch UMLS:C3810285 Unspecified myopathy with extrapyramidal signs +OMIM:613004 skos:exactMatch HGNC_symbol:HTT Unspecified HTT +OMIM:613004 skos:exactMatch UMLS:C0020179 Unspecified HTT +OMIM:613004 skos:exactMatch UMLS:C4479491 Unspecified HTT +OMIM:613004 skos:exactMatch HGNC:4851 Unspecified HTT +OMIM:613004 skos:exactMatch UMLS:C1415504 Unspecified HTT +OMIM:615674 skos:exactMatch UMLS:C3810286 Unspecified dowling-degos disease 3 +OMIM:613003 skos:exactMatch UMLS:C2751802 Unspecified attention deficit-hyperactivity disorder, susceptibility to, 7 +OMIM:615675 skos:exactMatch UMLS:C1537865 Unspecified MIR301A +OMIM:615675 skos:exactMatch HGNC:31622 Unspecified MIR301A +OMIM:615675 skos:exactMatch HGNC_symbol:MIR301A Unspecified MIR301A +OMIM:615665 skos:exactMatch UMLS:C3810278 Unspecified joubert syndrome 22 +OMIM:615665 skos:exactMatch ORPHA:2754 Unspecified joubert syndrome 22 +OMIM:613013 skos:exactMatch UMLS:C2751683 Unspecified neuroblastoma, susceptibility to, 2 +OMIM:613013 skos:exactMatch UMLS:C2751682 Unspecified neuroblastoma, susceptibility to, 2 +OMIM:613012 skos:exactMatch HGNC_symbol:UROC1 Unspecified UROC1 +OMIM:613012 skos:exactMatch HGNC:26444 Unspecified UROC1 +OMIM:613012 skos:exactMatch UMLS:C1540164 Unspecified UROC1 +OMIM:615666 skos:exactMatch HGNC:26725 Unspecified KIAA1456 +OMIM:615666 skos:exactMatch HGNC_symbol:TRMT9B Unspecified KIAA1456 +OMIM:615666 skos:exactMatch UMLS:C1824287 Unspecified KIAA1456 +OMIM:613011 skos:exactMatch UMLS:C3552634 Unspecified lymphoproliferative syndrome 1 +OMIM:615667 skos:exactMatch HGNC:26922 Unspecified ERCC6L2 +OMIM:615667 skos:exactMatch UMLS:C3470154 Unspecified ERCC6L2 +OMIM:615667 skos:exactMatch UMLS:C4539492 Unspecified ERCC6L2 +OMIM:615667 skos:exactMatch HGNC_symbol:ERCC6L2 Unspecified ERCC6L2 +OMIM:613010 skos:exactMatch HGNC:30324 Unspecified RFK +OMIM:613010 skos:exactMatch HGNC_symbol:RFK Unspecified RFK +OMIM:613010 skos:exactMatch UMLS:C1538827 Unspecified RFK +OMIM:615668 skos:exactMatch UMLS:C3810282 Unspecified chromosome 5q12 deletion syndrome +OMIM:615669 skos:exactMatch HGNC:30465 Unspecified EMB +OMIM:615669 skos:exactMatch UMLS:C1539357 Unspecified EMB +OMIM:615669 skos:exactMatch HGNC_symbol:EMB Unspecified EMB +OMIM:603690 skos:exactMatch HGNC:95 Unspecified SLC33A1 +OMIM:603690 skos:exactMatch UMLS:C1412113 Unspecified SLC33A1 +OMIM:603690 skos:exactMatch HGNC_symbol:SLC33A1 Unspecified SLC33A1 +OMIM:603692 skos:exactMatch HGNC:4134 Unspecified GALR3 +OMIM:603692 skos:exactMatch HGNC_symbol:GALR3 Unspecified GALR3 +OMIM:603692 skos:exactMatch UMLS:C1414961 Unspecified GALR3 +OMIM:603691 skos:exactMatch HGNC:4133 Unspecified GALR2 +OMIM:603691 skos:exactMatch HGNC_symbol:GALR2 Unspecified GALR2 +OMIM:603691 skos:exactMatch UMLS:C1333658 Unspecified GALR2 +OMIM:601030 skos:exactMatch UMLS:C1419410 Unspecified RNASE4 +OMIM:601030 skos:exactMatch HGNC:10047 Unspecified RNASE4 +OMIM:601030 skos:exactMatch HGNC_symbol:RNASE4 Unspecified RNASE4 +OMIM:603694 skos:exactMatch UMLS:C1863594 Unspecified iia 2 diabetes mellitus 3 +OMIM:601031 skos:exactMatch HGNC_symbol:RHPN1 Unspecified RHPN1 +OMIM:601031 skos:exactMatch HGNC:19973 Unspecified RHPN1 +OMIM:601031 skos:exactMatch UMLS:C1426574 Unspecified RHPN1 +OMIM:603693 skos:exactMatch UMLS:C0013069 Unspecified ZFPM2 +OMIM:603693 skos:exactMatch UMLS:C0039685 Unspecified ZFPM2 +OMIM:603693 skos:exactMatch UMLS:C4015129 Unspecified ZFPM2 +OMIM:603693 skos:exactMatch UMLS:C1857781 Unspecified ZFPM2 +OMIM:603693 skos:exactMatch HGNC:16700 Unspecified ZFPM2 +OMIM:603693 skos:exactMatch HGNC_symbol:ZFPM2 Unspecified ZFPM2 +OMIM:603693 skos:exactMatch UMLS:C1424490 Unspecified ZFPM2 +OMIM:601032 skos:exactMatch HGNC_symbol:PKN1 Unspecified PKN1 +OMIM:601032 skos:exactMatch UMLS:C1538659 Unspecified PKN1 +OMIM:601032 skos:exactMatch HGNC:9405 Unspecified PKN1 +OMIM:601033 skos:exactMatch HGNC:6485 Unspecified LAMA5 +OMIM:601033 skos:exactMatch HGNC_symbol:LAMA5 Unspecified LAMA5 +OMIM:601033 skos:exactMatch UMLS:C1416779 Unspecified LAMA5 +OMIM:603696 skos:exactMatch UMLS:C1539747 Unspecified SEPT4 +OMIM:603696 skos:exactMatch HGNC:9165 Unspecified SEPT4 +OMIM:603696 skos:exactMatch HGNC_symbol:SEPTIN4 Unspecified SEPT4 +OMIM:603695 skos:exactMatch HGNC_symbol:GUCY1B2 Unspecified GUCY1B2 +OMIM:603695 skos:exactMatch HGNC:4686 Unspecified GUCY1B2 +OMIM:603695 skos:exactMatch UMLS:C1415361 Unspecified GUCY1B2 +OMIM:183849 skos:exactMatch UMLS:C1866728 Unspecified spondyloepimetaphyseal dysplasia with hypotrichosis +OMIM:109900 skos:exactMatch UMLS:C0339085 Unspecified blepharochalasis and double 51p +OMIM:601013 skos:exactMatch UMLS:C1413059 Unspecified CACNA1E +OMIM:601013 skos:exactMatch HGNC_symbol:CACNA1E Unspecified CACNA1E +OMIM:601013 skos:exactMatch HGNC:1392 Unspecified CACNA1E +OMIM:601013 skos:exactMatch UMLS:C4748988 Unspecified CACNA1E +OMIM:603675 skos:exactMatch UMLS:C1419712 Unspecified RPS16 +OMIM:603675 skos:exactMatch HGNC:10396 Unspecified RPS16 +OMIM:603675 skos:exactMatch HGNC_symbol:RPS16 Unspecified RPS16 +OMIM:601014 skos:exactMatch HGNC_symbol:DLG1 Unspecified DLG1 +OMIM:601014 skos:exactMatch UMLS:C1333225 Unspecified DLG1 +OMIM:601014 skos:exactMatch HGNC:2900 Unspecified DLG1 +OMIM:603678 skos:exactMatch UMLS:C1863613 Unspecified deafness, autosomal recessive 14 +OMIM:601015 skos:exactMatch HGNC_symbol:NPC2 Unspecified NPC2 +OMIM:601015 skos:exactMatch HGNC:14537 Unspecified NPC2 +OMIM:601015 skos:exactMatch UMLS:C1843366 Unspecified NPC2 +OMIM:601015 skos:exactMatch UMLS:C1422736 Unspecified NPC2 +OMIM:603677 skos:exactMatch UMLS:C1417586 Unspecified MYT2 +OMIM:601016 skos:exactMatch UMLS:C1832874 Unspecified midline malformations, multiple, with limb abnormalities and hypopituitarism +OMIM:601017 skos:exactMatch HGNC_symbol:SNTA1 Unspecified SNTA1 +OMIM:601017 skos:exactMatch HGNC:11167 Unspecified SNTA1 +OMIM:601017 skos:exactMatch UMLS:C1420296 Unspecified SNTA1 +OMIM:301410 skos:exactMatch UMLS:C1845026 Unspecified neural tube defects, X-linked +OMIM:301410 skos:exactMatch UMLS:C1845027 Unspecified neural tube defects, X-linked +OMIM:603679 skos:exactMatch HGNC:12492 Unspecified UBE2N +OMIM:603679 skos:exactMatch UMLS:C1421290 Unspecified UBE2N +OMIM:603679 skos:exactMatch HGNC_symbol:UBE2N Unspecified UBE2N +OMIM:183850 skos:exactMatch UMLS:C1866727 Unspecified spondyloepiphyseal dysplasia with punctate corneal dystrophy +OMIM:601019 skos:exactMatch HGNC_symbol:SLC6A9 Unspecified SLC6A9 +OMIM:601019 skos:exactMatch HGNC:11056 Unspecified SLC6A9 +OMIM:601019 skos:exactMatch UMLS:C1832872 Unspecified SLC6A9 +OMIM:601019 skos:exactMatch UMLS:C1420220 Unspecified SLC6A9 +OMIM:615660 skos:exactMatch HGNC_symbol:RPL10A Unspecified RPL10A +OMIM:615660 skos:exactMatch UMLS:C1419626 Unspecified RPL10A +OMIM:615660 skos:exactMatch HGNC:10299 Unspecified RPL10A +OMIM:615661 skos:exactMatch HGNC_symbol:PDCD2L Unspecified PDCD2L +OMIM:615661 skos:exactMatch UMLS:C1826556 Unspecified PDCD2L +OMIM:615661 skos:exactMatch HGNC:28194 Unspecified PDCD2L +OMIM:615662 skos:exactMatch UMLS:C1422493 Unspecified SERPINB12 +OMIM:615662 skos:exactMatch HGNC_symbol:SERPINB12 Unspecified SERPINB12 +OMIM:615662 skos:exactMatch HGNC:14220 Unspecified SERPINB12 +OMIM:615663 skos:exactMatch ORPHA:2510 Unspecified warburg micro syndrome 4 +OMIM:615663 skos:exactMatch UMLS:C3810265 Unspecified warburg micro syndrome 4 +OMIM:615664 skos:exactMatch UMLS:C3469978 Unspecified TESPA1 +OMIM:615664 skos:exactMatch HGNC:29109 Unspecified TESPA1 +OMIM:615664 skos:exactMatch HGNC_symbol:TESPA1 Unspecified TESPA1 +OMIM:615654 skos:exactMatch UMLS:C3888210 Unspecified deafness, autosomal dominant 58 +OMIM:613002 skos:exactMatch UMLS:C2751803 Unspecified immunodeficiency 83, susceptibility to viral infections +OMIM:613001 skos:exactMatch UMLS:C0406612 Unspecified encephalocraniocutaneous lipomatosis +OMIM:615655 skos:exactMatch HGNC_symbol:ZRANB3 Unspecified ZRANB3 +OMIM:615655 skos:exactMatch HGNC:25249 Unspecified ZRANB3 +OMIM:615655 skos:exactMatch UMLS:C1538254 Unspecified ZRANB3 +OMIM:613000 skos:exactMatch UMLS:C2931923 Unspecified palmoplantar keratoderma, nonepidermolytic, focal 1 +OMIM:613000 skos:exactMatch ORPHA:448264 Unspecified palmoplantar keratoderma, nonepidermolytic, focal 1 +OMIM:613000 skos:exactMatch UMLS:C4552049 Unspecified palmoplantar keratoderma, nonepidermolytic, focal 1 +OMIM:615656 skos:exactMatch UMLS:C3180937 Unspecified chromosome 15q11.2 deletion syndrome +OMIM:615657 skos:exactMatch HGNC:31529 Unspecified MIR142 +OMIM:615657 skos:exactMatch HGNC_symbol:MIR142 Unspecified MIR142 +OMIM:615657 skos:exactMatch UMLS:C1537796 Unspecified MIR142 +OMIM:171840 skos:exactMatch HGNC:8878 Unspecified PFKP +OMIM:171840 skos:exactMatch HGNC_symbol:PFKP Unspecified PFKP +OMIM:171840 skos:exactMatch UMLS:C1418493 Unspecified PFKP +OMIM:615658 skos:exactMatch UMLS:C3714897 Unspecified spastic paraplegia 57, autosomal recessive +OMIM:615659 skos:exactMatch UMLS:C1823390 Unspecified TMEM131 +OMIM:615659 skos:exactMatch HGNC_symbol:TMEM131 Unspecified TMEM131 +OMIM:615659 skos:exactMatch HGNC:30366 Unspecified TMEM131 +OMIM:603681 skos:exactMatch UMLS:C1418195 Unspecified OTOF +OMIM:603681 skos:exactMatch HGNC_symbol:OTOF Unspecified OTOF +OMIM:603681 skos:exactMatch HGNC:8515 Unspecified OTOF +OMIM:603680 skos:exactMatch HGNC_symbol:ATXN8OS Unspecified ATXN8OS +OMIM:603680 skos:exactMatch HGNC:10561 Unspecified ATXN8OS +OMIM:603680 skos:exactMatch UMLS:C1825850 Unspecified ATXN8OS +OMIM:603683 skos:exactMatch UMLS:C1419724 Unspecified RPS23 +OMIM:603683 skos:exactMatch HGNC_symbol:RPS23 Unspecified RPS23 +OMIM:603683 skos:exactMatch HGNC:10410 Unspecified RPS23 +OMIM:601020 skos:exactMatch HGNC_symbol:CD86 Unspecified CD86 +OMIM:601020 skos:exactMatch HGNC:1705 Unspecified CD86 +OMIM:601020 skos:exactMatch UMLS:C1413243 Unspecified CD86 +OMIM:601021 skos:exactMatch UMLS:C3275870 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C3888128 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C3888130 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C1334913 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C1846840 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C1832869 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C1832871 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C1832870 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C4225441 Unspecified NUP98 +OMIM:601021 skos:exactMatch HGNC_symbol:NUP98 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C3809232 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C1852035 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C1840524 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C1840515 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C1840501 Unspecified NUP98 +OMIM:601021 skos:exactMatch HGNC:8068 Unspecified NUP98 +OMIM:601021 skos:exactMatch UMLS:C1847677 Unspecified NUP98 +OMIM:603682 skos:exactMatch UMLS:C1419719 Unspecified RPS20 +OMIM:603682 skos:exactMatch HGNC_symbol:RPS20 Unspecified RPS20 +OMIM:603682 skos:exactMatch HGNC:10405 Unspecified RPS20 +OMIM:601022 skos:exactMatch UMLS:C1833448 Unspecified NFKBIL1 +OMIM:601022 skos:exactMatch HGNC:7800 Unspecified NFKBIL1 +OMIM:601022 skos:exactMatch UMLS:C1417711 Unspecified NFKBIL1 +OMIM:601022 skos:exactMatch HGNC_symbol:NFKBIL1 Unspecified NFKBIL1 +OMIM:603685 skos:exactMatch UMLS:C1419731 Unspecified RPS28 +OMIM:603685 skos:exactMatch HGNC_symbol:RPS28 Unspecified RPS28 +OMIM:603685 skos:exactMatch HGNC:10418 Unspecified RPS28 +OMIM:601023 skos:exactMatch HGNC:12666 Unspecified VCP +OMIM:601023 skos:exactMatch HGNC_symbol:VCP Unspecified VCP +OMIM:601023 skos:exactMatch UMLS:C5436279 Unspecified VCP +OMIM:601023 skos:exactMatch UMLS:C4225244 Unspecified VCP +OMIM:601023 skos:exactMatch UMLS:C1421437 Unspecified VCP +OMIM:601023 skos:exactMatch UMLS:C5436951 Unspecified VCP +OMIM:601023 skos:exactMatch UMLS:C5436952 Unspecified VCP +OMIM:601023 skos:exactMatch UMLS:C5436950 Unspecified VCP +OMIM:601023 skos:exactMatch UMLS:C5436953 Unspecified VCP +OMIM:603684 skos:exactMatch HGNC:6623 Unspecified LIPG +OMIM:603684 skos:exactMatch UMLS:C1416870 Unspecified LIPG +OMIM:603684 skos:exactMatch HGNC_symbol:LIPG Unspecified LIPG +OMIM:601002 skos:exactMatch HGNC_symbol:GSS Unspecified GSS +OMIM:601002 skos:exactMatch HGNC:4624 Unspecified GSS +OMIM:601002 skos:exactMatch UMLS:C1415327 Unspecified GSS +OMIM:603665 skos:exactMatch UMLS:C1335878 Unspecified STC2 +OMIM:603665 skos:exactMatch HGNC_symbol:STC2 Unspecified STC2 +OMIM:603665 skos:exactMatch HGNC:11374 Unspecified STC2 +OMIM:156240 skos:exactMatch UMLS:C0345967 Unspecified mesothelioma, malignant +OMIM:603664 skos:exactMatch UMLS:C1863620 Unspecified mental health wellness 2 +OMIM:601003 skos:exactMatch UMLS:C1832918 Unspecified brody disease +OMIM:603667 skos:exactMatch UMLS:C2751855 Unspecified SLC25A12 +OMIM:603667 skos:exactMatch HGNC_symbol:SLC25A12 Unspecified SLC25A12 +OMIM:603667 skos:exactMatch UMLS:C1420153 Unspecified SLC25A12 +OMIM:603667 skos:exactMatch HGNC:10982 Unspecified SLC25A12 +OMIM:601004 skos:exactMatch UMLS:C1832917 Unspecified portal vein, cavernous transformation of +OMIM:603666 skos:exactMatch HGNC:11431 Unspecified STX16 +OMIM:603666 skos:exactMatch HGNC_symbol:STX16 Unspecified STX16 +OMIM:603666 skos:exactMatch UMLS:C1420496 Unspecified STX16 +OMIM:601005 skos:exactMatch UMLS:C1832916 Unspecified timothy syndrome +OMIM:603669 skos:exactMatch UMLS:C1863618 Unspecified eccrine syringofibroadenomatosis with eyelid abnormalities +OMIM:601007 skos:exactMatch HGNC_symbol:LEPR Unspecified LEPR +OMIM:601007 skos:exactMatch UMLS:C1366515 Unspecified LEPR +OMIM:601007 skos:exactMatch HGNC:6554 Unspecified LEPR +OMIM:603668 skos:exactMatch UMLS:C1419993 Unspecified SCAF11 +OMIM:603668 skos:exactMatch HGNC:10784 Unspecified SCAF11 +OMIM:603668 skos:exactMatch HGNC_symbol:SCAF11 Unspecified SCAF11 +OMIM:242680 skos:exactMatch UMLS:C0340036 Unspecified ciliary dyskinesia with excessively long cilia +OMIM:601009 skos:exactMatch UMLS:C1420744 Unspecified TJP1 +OMIM:601009 skos:exactMatch HGNC_symbol:TJP1 Unspecified TJP1 +OMIM:601009 skos:exactMatch HGNC:11827 Unspecified TJP1 +OMIM:615650 skos:exactMatch HGNC:24499 Unspecified RGS22 +OMIM:615650 skos:exactMatch UMLS:C1538837 Unspecified RGS22 +OMIM:615650 skos:exactMatch HGNC_symbol:RGS22 Unspecified RGS22 +OMIM:615651 skos:exactMatch UMLS:C3810242 Unspecified leukoencephalopathy with ataxia +OMIM:615652 skos:exactMatch HGNC:20999 Unspecified ACOT13 +OMIM:615652 skos:exactMatch HGNC_symbol:ACOT13 Unspecified ACOT13 +OMIM:615652 skos:exactMatch UMLS:C1427237 Unspecified ACOT13 +OMIM:615653 skos:exactMatch HGNC:26755 Unspecified THEM5 +OMIM:615653 skos:exactMatch HGNC_symbol:THEM5 Unspecified THEM5 +OMIM:615653 skos:exactMatch UMLS:C1823270 Unspecified THEM5 +OMIM:144250 skos:exactMatch UMLS:C0020474 Unspecified hyperlipidemia, familial combined, 3 +OMIM:615643 skos:exactMatch UMLS:C3810230 Unspecified neurodegeneration with brain iron accumulation 6 +OMIM:615644 skos:exactMatch HGNC:32563 Unspecified SCARNA7 +OMIM:615644 skos:exactMatch UMLS:C1822631 Unspecified SCARNA7 +OMIM:615644 skos:exactMatch HGNC_symbol:SCARNA7 Unspecified SCARNA7 +OMIM:615645 skos:exactMatch HGNC:32574 Unspecified SCARNA17 +OMIM:615645 skos:exactMatch UMLS:C1822641 Unspecified SCARNA17 +OMIM:615645 skos:exactMatch HGNC_symbol:SCARNA17 Unspecified SCARNA17 +OMIM:615646 skos:exactMatch HGNC:32564 Unspecified SCARNA8 +OMIM:615646 skos:exactMatch UMLS:C1822632 Unspecified SCARNA8 +OMIM:615646 skos:exactMatch HGNC_symbol:SCARNA8 Unspecified SCARNA8 +OMIM:615647 skos:exactMatch HGNC:33802 Unspecified TEX19 +OMIM:615647 skos:exactMatch UMLS:C2828861 Unspecified TEX19 +OMIM:615647 skos:exactMatch HGNC_symbol:TEX19 Unspecified TEX19 +OMIM:615648 skos:exactMatch HGNC_symbol:NLRC3 Unspecified NLRC3 +OMIM:615648 skos:exactMatch HGNC:29889 Unspecified NLRC3 +OMIM:615648 skos:exactMatch UMLS:C1826432 Unspecified NLRC3 +OMIM:615649 skos:exactMatch UMLS:C3888029 Unspecified deafness, autosomal dominant 54 +OMIM:603670 skos:exactMatch UMLS:C1863617 Unspecified blue nevi, familial multiple +OMIM:603672 skos:exactMatch HGNC_symbol:CBFA2T2 Unspecified CBFA2T2 +OMIM:603672 skos:exactMatch HGNC:1536 Unspecified CBFA2T2 +OMIM:603672 skos:exactMatch UMLS:C1413148 Unspecified CBFA2T2 +OMIM:603671 skos:exactMatch UMLS:C1863616 Unspecified acromelic frontonasal dysostosis +OMIM:601010 skos:exactMatch HGNC_symbol:TCF15 Unspecified TCF15 +OMIM:601010 skos:exactMatch HGNC:11627 Unspecified TCF15 +OMIM:601010 skos:exactMatch UMLS:C1420633 Unspecified TCF15 +OMIM:601011 skos:exactMatch UMLS:C4310716 Unspecified CACNA1A +OMIM:601011 skos:exactMatch UMLS:C0752124 Unspecified CACNA1A +OMIM:601011 skos:exactMatch UMLS:C1832903 Unspecified CACNA1A +OMIM:601011 skos:exactMatch UMLS:C1832885 Unspecified CACNA1A +OMIM:601011 skos:exactMatch UMLS:C1832884 Unspecified CACNA1A +OMIM:601011 skos:exactMatch UMLS:C4016713 Unspecified CACNA1A +OMIM:601011 skos:exactMatch HGNC:1388 Unspecified CACNA1A +OMIM:601011 skos:exactMatch UMLS:C1720416 Unspecified CACNA1A +OMIM:601011 skos:exactMatch UMLS:C1456413 Unspecified CACNA1A +OMIM:601011 skos:exactMatch HGNC_symbol:CACNA1A Unspecified CACNA1A +OMIM:227090 skos:exactMatch UMLS:C1856898 Unspecified erythroderma, lethal congenital +OMIM:603674 skos:exactMatch UMLS:C1419705 Unspecified RPS15A +OMIM:603674 skos:exactMatch HGNC:10389 Unspecified RPS15A +OMIM:603674 skos:exactMatch HGNC_symbol:RPS15A Unspecified RPS15A +OMIM:601012 skos:exactMatch HGNC_symbol:CACNA1B Unspecified CACNA1B +OMIM:601012 skos:exactMatch UMLS:C5193128 Unspecified CACNA1B +OMIM:601012 skos:exactMatch UMLS:C4015968 Unspecified CACNA1B +OMIM:601012 skos:exactMatch HGNC:1389 Unspecified CACNA1B +OMIM:601012 skos:exactMatch UMLS:C1413056 Unspecified CACNA1B +OMIM:603673 skos:exactMatch UMLS:C1335270 Unspecified PTCH2 +OMIM:603673 skos:exactMatch HGNC:9586 Unspecified PTCH2 +OMIM:603673 skos:exactMatch HGNC_symbol:PTCH2 Unspecified PTCH2 +OMIM:603654 skos:exactMatch UMLS:C1420108 Unspecified SLC16A7 +OMIM:603654 skos:exactMatch HGNC_symbol:SLC16A7 Unspecified SLC16A7 +OMIM:603654 skos:exactMatch HGNC:10928 Unspecified SLC16A7 +OMIM:156230 skos:exactMatch UMLS:C1835010 Unspecified mesomelic dwarfism of hypoplastic tibia and radius iia +OMIM:603656 skos:exactMatch UMLS:C1863622 Unspecified exostosis, dupuytren subungual +OMIM:156232 skos:exactMatch UMLS:C1835009 Unspecified mesomelic dysplasia, kantaputra iia +OMIM:603658 skos:exactMatch UMLS:C1419751 Unspecified RPS7 +OMIM:603658 skos:exactMatch HGNC_symbol:RPS7 Unspecified RPS7 +OMIM:603658 skos:exactMatch HGNC:10440 Unspecified RPS7 +OMIM:603657 skos:exactMatch HGNC:12644 Unspecified VAMP3 +OMIM:603657 skos:exactMatch HGNC_symbol:VAMP3 Unspecified VAMP3 +OMIM:603657 skos:exactMatch UMLS:C1421420 Unspecified VAMP3 +OMIM:603659 skos:exactMatch UMLS:C1415106 Unspecified GLP2R +OMIM:603659 skos:exactMatch HGNC:4325 Unspecified GLP2R +OMIM:603659 skos:exactMatch HGNC_symbol:GLP2R Unspecified GLP2R +OMIM:615640 skos:exactMatch HGNC:32561 Unspecified SCARNA5 +OMIM:615640 skos:exactMatch UMLS:C1822629 Unspecified SCARNA5 +OMIM:615640 skos:exactMatch HGNC_symbol:SCARNA5 Unspecified SCARNA5 +OMIM:615641 skos:exactMatch HGNC:32562 Unspecified SCARNA6 +OMIM:615641 skos:exactMatch UMLS:C1822630 Unspecified SCARNA6 +OMIM:615641 skos:exactMatch HGNC_symbol:SCARNA6 Unspecified SCARNA6 +OMIM:615642 skos:exactMatch HGNC:32569 Unspecified SCARNA12 +OMIM:615642 skos:exactMatch UMLS:C1822636 Unspecified SCARNA12 +OMIM:615642 skos:exactMatch HGNC_symbol:SCARNA12 Unspecified SCARNA12 +OMIM:615632 skos:exactMatch ORPHA:36386 Unspecified neuropathy, hereditary sensory, iia 1f +OMIM:615632 skos:exactMatch UMLS:C3810194 Unspecified neuropathy, hereditary sensory, iia 1f +OMIM:615633 skos:exactMatch UMLS:C3810200 Unspecified short-rib thoracic dysplasia 11 with or without polydactyly +OMIM:615634 skos:exactMatch HGNC:28184 Unspecified CHCHD6 +OMIM:615634 skos:exactMatch UMLS:C1428678 Unspecified CHCHD6 +OMIM:615634 skos:exactMatch HGNC_symbol:CHCHD6 Unspecified CHCHD6 +OMIM:615635 skos:exactMatch HGNC:17277 Unspecified ZFR +OMIM:615635 skos:exactMatch UMLS:C1424868 Unspecified ZFR +OMIM:615635 skos:exactMatch HGNC_symbol:ZFR Unspecified ZFR +OMIM:615636 skos:exactMatch UMLS:C3810212 Unspecified joubert syndrome 21 +OMIM:252011 skos:exactMatch UMLS:C1855008 Unspecified mitochondrial complex 2 deficiency, nuclear iia 1 +OMIM:252011 skos:exactMatch ORPHA:3208 Unspecified mitochondrial complex 2 deficiency, nuclear iia 1 +OMIM:615637 skos:exactMatch UMLS:C3810225 Unspecified intellectual developmental disorder, autosomal recessive 41 +OMIM:252010 skos:exactMatch UMLS:C1838979 Unspecified mitochondrial complex 1 deficiency, nuclear iia 1 +OMIM:252010 skos:exactMatch ORPHA:255241 Unspecified mitochondrial complex 1 deficiency, nuclear iia 1 +OMIM:252010 skos:exactMatch ORPHA:2609 Unspecified mitochondrial complex 1 deficiency, nuclear iia 1 +OMIM:171860 skos:exactMatch HGNC:8876 Unspecified PFKL +OMIM:171860 skos:exactMatch HGNC_symbol:PFKL Unspecified PFKL +OMIM:171860 skos:exactMatch UMLS:C1418491 Unspecified PFKL +OMIM:615638 skos:exactMatch HGNC_symbol:NCAPD2 Unspecified NCAPD2 +OMIM:615638 skos:exactMatch HGNC:24305 Unspecified NCAPD2 +OMIM:615638 skos:exactMatch UMLS:C1826380 Unspecified NCAPD2 +OMIM:615639 skos:exactMatch HGNC:32567 Unspecified SCARNA10 +OMIM:615639 skos:exactMatch UMLS:C1822634 Unspecified SCARNA10 +OMIM:615639 skos:exactMatch HGNC_symbol:SCARNA10 Unspecified SCARNA10 +OMIM:603661 skos:exactMatch HGNC_symbol:RPL17 Unspecified RPL17 +OMIM:603661 skos:exactMatch UMLS:C1419633 Unspecified RPL17 +OMIM:603661 skos:exactMatch HGNC:10307 Unspecified RPL17 +OMIM:603660 skos:exactMatch UMLS:C1419701 Unspecified RPS12 +OMIM:603660 skos:exactMatch HGNC_symbol:RPS12 Unspecified RPS12 +OMIM:603660 skos:exactMatch HGNC:10385 Unspecified RPS12 +OMIM:603663 skos:exactMatch UMLS:C1863621 Unspecified mental health wellness 1 +OMIM:603662 skos:exactMatch HGNC_symbol:RPL23 Unspecified RPL23 +OMIM:603662 skos:exactMatch UMLS:C1419640 Unspecified RPL23 +OMIM:603662 skos:exactMatch HGNC:10316 Unspecified RPL23 +OMIM:601001 skos:exactMatch UMLS:C3715082 Unspecified epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive +OMIM:601068 skos:exactMatch UMLS:C1832841 Unspecified epilepsy, familial adult myoclonic, 1 +OMIM:601069 skos:exactMatch HGNC_symbol:ZNF239 Unspecified ZNF239 +OMIM:601069 skos:exactMatch UMLS:C1421726 Unspecified ZNF239 +OMIM:601069 skos:exactMatch HGNC:13031 Unspecified ZNF239 +OMIM:240000 skos:exactMatch UMLS:C1855884 Unspecified hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase +OMIM:613049 skos:exactMatch UMLS:C1825194 Unspecified FAM90A13 +OMIM:613049 skos:exactMatch HGNC:32261 Unspecified FAM90A13 +OMIM:613049 skos:exactMatch HGNC_symbol:FAM90A13P Unspecified FAM90A13 +OMIM:613048 skos:exactMatch UMLS:C1825193 Unspecified FAM90A12 +OMIM:613048 skos:exactMatch HGNC:32260 Unspecified FAM90A12 +OMIM:613048 skos:exactMatch HGNC_symbol:FAM90A12P Unspecified FAM90A12 +OMIM:613047 skos:exactMatch HGNC_symbol:FAM90A10 Unspecified FAM90A10 +OMIM:613047 skos:exactMatch UMLS:C1825191 Unspecified FAM90A10 +OMIM:613047 skos:exactMatch HGNC:32258 Unspecified FAM90A10 +OMIM:171891 skos:exactMatch UMLS:C1418415 Unspecified PDE1B +OMIM:171891 skos:exactMatch HGNC_symbol:PDE1B Unspecified PDE1B +OMIM:171891 skos:exactMatch HGNC:8775 Unspecified PDE1B +OMIM:613057 skos:exactMatch UMLS:C1537727 Unspecified MIR26A2 +OMIM:613057 skos:exactMatch HGNC:31611 Unspecified MIR26A2 +OMIM:613057 skos:exactMatch HGNC_symbol:MIR26A2 Unspecified MIR26A2 +OMIM:613056 skos:exactMatch HGNC:21608 Unspecified LUC7L2 +OMIM:613056 skos:exactMatch HGNC_symbol:LUC7L2 Unspecified LUC7L2 +OMIM:613056 skos:exactMatch UMLS:C1427644 Unspecified LUC7L2 +OMIM:613055 skos:exactMatch UMLS:C2751607 Unspecified atrial fibrillation, familial, 8 +OMIM:313420 skos:exactMatch UMLS:C0796172 Unspecified spondylometaphyseal dysplasia, X-linked +OMIM:171890 skos:exactMatch UMLS:C1418414 Unspecified PDE1A +OMIM:171890 skos:exactMatch HGNC_symbol:PDE1A Unspecified PDE1A +OMIM:171890 skos:exactMatch HGNC:8774 Unspecified PDE1A +OMIM:613054 skos:exactMatch UMLS:C1825201 Unspecified FAM90A20 +OMIM:613054 skos:exactMatch HGNC:32268 Unspecified FAM90A20 +OMIM:613054 skos:exactMatch HGNC_symbol:FAM90A20P Unspecified FAM90A20 +OMIM:613053 skos:exactMatch UMLS:C1825200 Unspecified FAM90A19 +OMIM:613053 skos:exactMatch HGNC:32267 Unspecified FAM90A19 +OMIM:613053 skos:exactMatch HGNC_symbol:FAM90A19 Unspecified FAM90A19 +OMIM:613052 skos:exactMatch UMLS:C1825199 Unspecified FAM90A18 +OMIM:613052 skos:exactMatch HGNC:32266 Unspecified FAM90A18 +OMIM:613052 skos:exactMatch HGNC_symbol:FAM90A18 Unspecified FAM90A18 +OMIM:613051 skos:exactMatch HGNC:32263 Unspecified FAM90A15 +OMIM:613051 skos:exactMatch HGNC_symbol:FAM90A15P Unspecified FAM90A15 +OMIM:613051 skos:exactMatch UMLS:C1825196 Unspecified FAM90A15 +OMIM:613050 skos:exactMatch HGNC:32262 Unspecified FAM90A14 +OMIM:613050 skos:exactMatch HGNC_symbol:FAM90A14 Unspecified FAM90A14 +OMIM:613050 skos:exactMatch UMLS:C1825195 Unspecified FAM90A14 +OMIM:601070 skos:exactMatch HGNC_symbol:IL15RA Unspecified IL15RA +OMIM:601070 skos:exactMatch HGNC:5978 Unspecified IL15RA +OMIM:601070 skos:exactMatch UMLS:C1416387 Unspecified IL15RA +OMIM:601071 skos:exactMatch UMLS:C1832830 Unspecified deafness, autosomal recessive 9 +OMIM:601071 skos:exactMatch UMLS:C1832828 Unspecified deafness, autosomal recessive 9 +OMIM:601072 skos:exactMatch UMLS:C1854414 Unspecified deafness, autosomal recessive 8 +OMIM:601072 skos:exactMatch UMLS:C1832827 Unspecified deafness, autosomal recessive 8 +OMIM:601074 skos:exactMatch HGNC:2549 Unspecified CELF1 +OMIM:601074 skos:exactMatch HGNC_symbol:CELF1 Unspecified CELF1 +OMIM:601074 skos:exactMatch UMLS:C1413824 Unspecified CELF1 +OMIM:193200 skos:exactMatch UMLS:C3277701 Unspecified vitiligo-associated multiple autoimmune disease susceptibility 6 +OMIM:601075 skos:exactMatch UMLS:C1832826 Unspecified aplasia cutis congenita, high myopia, and cone-rod dysfunction +OMIM:601076 skos:exactMatch UMLS:C1832817 Unspecified mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies +OMIM:601077 skos:exactMatch UMLS:C1825747 Unspecified KRT31 +OMIM:601077 skos:exactMatch HGNC_symbol:KRT31 Unspecified KRT31 +OMIM:601077 skos:exactMatch HGNC:6448 Unspecified KRT31 +OMIM:601078 skos:exactMatch UMLS:C1825769 Unspecified KRT82 +OMIM:601078 skos:exactMatch HGNC_symbol:KRT82 Unspecified KRT82 +OMIM:601078 skos:exactMatch HGNC:6459 Unspecified KRT82 +OMIM:601057 skos:exactMatch UMLS:C1418406 Unspecified PDCD6 +OMIM:601057 skos:exactMatch HGNC_symbol:PDCD6 Unspecified PDCD6 +OMIM:601057 skos:exactMatch HGNC:8765 Unspecified PDCD6 +OMIM:156250 skos:exactMatch UMLS:C0410530 Unspecified metachondromatosis +OMIM:242670 skos:exactMatch UMLS:C0340035 Unspecified ciliary dyskinesia with defective radial spokes +OMIM:601058 skos:exactMatch HGNC:4765 Unspecified H3F3B +OMIM:601058 skos:exactMatch UMLS:C1415428 Unspecified H3F3B +OMIM:601058 skos:exactMatch HGNC_symbol:H3-3B Unspecified H3F3B +OMIM:215050 skos:exactMatch UMLS:C1859147 Unspecified chondrodysplasia calcificans metaphysealis +OMIM:239000 skos:exactMatch UMLS:C0268414 Unspecified paget disease of bone 5, juvenile-onset +OMIM:613039 skos:exactMatch HGNC_symbol:CHD1L Unspecified CHD1L +OMIM:613039 skos:exactMatch HGNC:1916 Unspecified CHD1L +OMIM:613039 skos:exactMatch UMLS:C1413380 Unspecified CHD1L +OMIM:613038 skos:exactMatch UMLS:C2751608 Unspecified pituitary hormone deficiency, combined or isolated, 1 +OMIM:613037 skos:exactMatch HGNC_symbol:INPP5E Unspecified INPP5E +OMIM:613037 skos:exactMatch HGNC:21474 Unspecified INPP5E +OMIM:613037 skos:exactMatch UMLS:C1427565 Unspecified INPP5E +OMIM:613036 skos:exactMatch HGNC_symbol:PMPCA Unspecified PMPCA +OMIM:613036 skos:exactMatch HGNC:18667 Unspecified PMPCA +OMIM:613036 skos:exactMatch UMLS:C1425693 Unspecified PMPCA +OMIM:613046 skos:exactMatch UMLS:C1825190 Unspecified FAM90A9 +OMIM:613046 skos:exactMatch HGNC:32257 Unspecified FAM90A9 +OMIM:613046 skos:exactMatch HGNC_symbol:FAM90A9 Unspecified FAM90A9 +OMIM:615698 skos:exactMatch UMLS:C1424784 Unspecified PLD3 +OMIM:615698 skos:exactMatch HGNC_symbol:PLD3 Unspecified PLD3 +OMIM:615698 skos:exactMatch HGNC:17158 Unspecified PLD3 +OMIM:313430 skos:exactMatch HGNC_symbol:SOX3 Unspecified SOX3 +OMIM:313430 skos:exactMatch HGNC:11199 Unspecified SOX3 +OMIM:313430 skos:exactMatch UMLS:C1420326 Unspecified SOX3 +OMIM:615699 skos:exactMatch UMLS:C2828858 Unspecified ZFTA +OMIM:615699 skos:exactMatch HGNC:28449 Unspecified ZFTA +OMIM:615699 skos:exactMatch UMLS:C3810322 Unspecified ZFTA +OMIM:615699 skos:exactMatch UMLS:C3810323 Unspecified ZFTA +OMIM:615699 skos:exactMatch HGNC_symbol:ZFTA Unspecified ZFTA +OMIM:613045 skos:exactMatch UMLS:C1825189 Unspecified FAM90A8 +OMIM:613045 skos:exactMatch HGNC:32256 Unspecified FAM90A8 +OMIM:613045 skos:exactMatch HGNC_symbol:FAM90A8 Unspecified FAM90A8 +OMIM:613044 skos:exactMatch UMLS:C1825188 Unspecified FAM90A7 +OMIM:613044 skos:exactMatch HGNC:32255 Unspecified FAM90A7 +OMIM:613044 skos:exactMatch HGNC_symbol:FAM90A7 Unspecified FAM90A7 +OMIM:613043 skos:exactMatch HGNC_symbol:FAM90A5P Unspecified FAM90A5 +OMIM:613043 skos:exactMatch UMLS:C1825186 Unspecified FAM90A5 +OMIM:613043 skos:exactMatch HGNC:32253 Unspecified FAM90A5 +OMIM:613042 skos:exactMatch UMLS:C1825184 Unspecified FAM90A3 +OMIM:613042 skos:exactMatch HGNC:32251 Unspecified FAM90A3 +OMIM:613042 skos:exactMatch HGNC_symbol:FAM90A3P Unspecified FAM90A3 +OMIM:613041 skos:exactMatch UMLS:C1825182 Unspecified FAM90A1 +OMIM:613041 skos:exactMatch HGNC_symbol:FAM90A1 Unspecified FAM90A1 +OMIM:613041 skos:exactMatch HGNC:25526 Unspecified FAM90A1 +OMIM:171885 skos:exactMatch UMLS:C1418431 Unspecified PDE7A +OMIM:171885 skos:exactMatch HGNC_symbol:PDE7A Unspecified PDE7A +OMIM:171885 skos:exactMatch HGNC:8791 Unspecified PDE7A +OMIM:613040 skos:exactMatch UMLS:C1824551 Unspecified CCDC26 +OMIM:613040 skos:exactMatch HGNC:28416 Unspecified CCDC26 +OMIM:613040 skos:exactMatch HGNC_symbol:CCDC26 Unspecified CCDC26 +OMIM:601060 skos:exactMatch HGNC:3357 Unspecified ENPP2 +OMIM:601060 skos:exactMatch HGNC_symbol:ENPP2 Unspecified ENPP2 +OMIM:601060 skos:exactMatch UMLS:C1414408 Unspecified ENPP2 +OMIM:601061 skos:exactMatch UMLS:C1420290 Unspecified SNRPD2 +OMIM:601061 skos:exactMatch HGNC_symbol:SNRPD2 Unspecified SNRPD2 +OMIM:601061 skos:exactMatch HGNC:11159 Unspecified SNRPD2 +OMIM:601062 skos:exactMatch UMLS:C1420291 Unspecified SNRPD3 +OMIM:601062 skos:exactMatch HGNC_symbol:SNRPD3 Unspecified SNRPD3 +OMIM:601062 skos:exactMatch HGNC:11160 Unspecified SNRPD3 +OMIM:601063 skos:exactMatch UMLS:C1420289 Unspecified SNRPD1 +OMIM:601063 skos:exactMatch HGNC:11158 Unspecified SNRPD1 +OMIM:601063 skos:exactMatch HGNC_symbol:SNRPD1 Unspecified SNRPD1 +OMIM:193210 skos:exactMatch UMLS:C1416494 Unspecified ITGAV +OMIM:193210 skos:exactMatch HGNC_symbol:ITGAV Unspecified ITGAV +OMIM:193210 skos:exactMatch HGNC:6150 Unspecified ITGAV +OMIM:215045 skos:exactMatch UMLS:C1859148 Unspecified chondrodysplasia, blomstrand iia +OMIM:601064 skos:exactMatch HGNC:1107 Unspecified ZFP36L1 +OMIM:601064 skos:exactMatch UMLS:C1412824 Unspecified ZFP36L1 +OMIM:601064 skos:exactMatch HGNC_symbol:ZFP36L1 Unspecified ZFP36L1 +OMIM:601065 skos:exactMatch UMLS:C4225361 Unspecified AARS1 +OMIM:601065 skos:exactMatch UMLS:C2750090 Unspecified AARS1 +OMIM:601065 skos:exactMatch UMLS:C2986382 Unspecified AARS1 +OMIM:601065 skos:exactMatch HGNC:20 Unspecified AARS1 +OMIM:601065 skos:exactMatch UMLS:C1412054 Unspecified AARS1 +OMIM:601065 skos:exactMatch HGNC_symbol:AARS1 Unspecified AARS1 +OMIM:601066 skos:exactMatch HGNC:8526 Unspecified OXA1L +OMIM:601066 skos:exactMatch HGNC_symbol:OXA1L Unspecified OXA1L +OMIM:601066 skos:exactMatch UMLS:C1418206 Unspecified OXA1L +OMIM:601067 skos:exactMatch UMLS:C1832845 Unspecified usher syndrome, iia 1d +OMIM:601067 skos:exactMatch UMLS:C3275872 Unspecified usher syndrome, iia 1d +OMIM:601067 skos:exactMatch UMLS:C3152102 Unspecified usher syndrome, iia 1d +OMIM:601046 skos:exactMatch HGNC_symbol:MMP12 Unspecified MMP12 +OMIM:601046 skos:exactMatch UMLS:C1417201 Unspecified MMP12 +OMIM:601046 skos:exactMatch HGNC:7158 Unspecified MMP12 +OMIM:601047 skos:exactMatch UMLS:C1332669 Unspecified CAV1 +OMIM:601047 skos:exactMatch HGNC_symbol:CAV1 Unspecified CAV1 +OMIM:601047 skos:exactMatch HGNC:1527 Unspecified CAV1 +OMIM:601048 skos:exactMatch UMLS:C1332670 Unspecified CAV2 +OMIM:601048 skos:exactMatch HGNC_symbol:CAV2 Unspecified CAV2 +OMIM:601048 skos:exactMatch HGNC:1528 Unspecified CAV2 +OMIM:181200 skos:exactMatch UMLS:C1867022 Unspecified sc(1) trait of saliva +OMIM:615690 skos:exactMatch UMLS:C1823185 Unspecified AMIGO2 +OMIM:615690 skos:exactMatch HGNC_symbol:AMIGO2 Unspecified AMIGO2 +OMIM:615690 skos:exactMatch HGNC:24073 Unspecified AMIGO2 +OMIM:615691 skos:exactMatch UMLS:C1823186 Unspecified AMIGO3 +OMIM:615691 skos:exactMatch HGNC_symbol:AMIGO3 Unspecified AMIGO3 +OMIM:615691 skos:exactMatch HGNC:24075 Unspecified AMIGO3 +OMIM:615692 skos:exactMatch HGNC_symbol:CHID1 Unspecified CHID1 +OMIM:615692 skos:exactMatch UMLS:C1824736 Unspecified CHID1 +OMIM:615692 skos:exactMatch HGNC:28474 Unspecified CHID1 +OMIM:613029 skos:exactMatch UMLS:C2751641 Unspecified glioma susceptibility 3 +OMIM:615693 skos:exactMatch HGNC_symbol:COLCA1 Unspecified COLCA1 +OMIM:615693 skos:exactMatch HGNC:33789 Unspecified COLCA1 +OMIM:615693 skos:exactMatch UMLS:C2681272 Unspecified COLCA1 +OMIM:615694 skos:exactMatch HGNC_symbol:COLCA2 Unspecified COLCA2 +OMIM:615694 skos:exactMatch UMLS:C3810312 Unspecified COLCA2 +OMIM:615694 skos:exactMatch HGNC:26978 Unspecified COLCA2 +OMIM:613028 skos:exactMatch UMLS:C2751642 Unspecified glioma susceptibility 2 +OMIM:613027 skos:exactMatch UMLS:C2751643 Unspecified glycogen storage disease ixc +OMIM:615695 skos:exactMatch HGNC_symbol:HEXIM2 Unspecified HEXIM2 +OMIM:615695 skos:exactMatch UMLS:C1825464 Unspecified HEXIM2 +OMIM:615695 skos:exactMatch HGNC:28591 Unspecified HEXIM2 +OMIM:615696 skos:exactMatch UMLS:C3810313 Unspecified dowling-degos disease 4 +OMIM:613026 skos:exactMatch UMLS:C4311048 Unspecified chromosome 19q13.11 deletion syndrome, distal +OMIM:615697 skos:exactMatch UMLS:C3810320 Unspecified epilepsy, familial temporal lobe, 6 +OMIM:613025 skos:exactMatch UMLS:C2751663 Unspecified schizophrenia 13 +OMIM:613035 skos:exactMatch UMLS:C2751629 Unspecified hearing loss, noise-induced, susceptibility to +OMIM:615687 skos:exactMatch HGNC:38606 Unspecified BECN2 +OMIM:615687 skos:exactMatch HGNC_symbol:BECN2 Unspecified BECN2 +OMIM:615687 skos:exactMatch UMLS:C3810296 Unspecified BECN2 +OMIM:615688 skos:exactMatch UMLS:C3887654 Unspecified vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome +OMIM:615688 skos:exactMatch UMLS:C4289994 Unspecified vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome +OMIM:227050 skos:exactMatch UMLS:C0238478 Unspecified transient erythroblastopenia of childhood +OMIM:613033 skos:exactMatch UMLS:C2751637 Unspecified glioma susceptibility 8 +OMIM:615689 skos:exactMatch UMLS:C1823184 Unspecified AMIGO1 +OMIM:615689 skos:exactMatch HGNC_symbol:AMIGO1 Unspecified AMIGO1 +OMIM:615689 skos:exactMatch HGNC:20824 Unspecified AMIGO1 +OMIM:613032 skos:exactMatch UMLS:C2751638 Unspecified glioma susceptibility 7 +OMIM:613031 skos:exactMatch UMLS:C2751639 Unspecified glioma susceptibility 6 +OMIM:313400 skos:exactMatch UMLS:C3541456 Unspecified spondyloepiphyseal dysplasia tarda, X-linked +OMIM:613030 skos:exactMatch UMLS:C2751640 Unspecified glioma susceptibility 5 +OMIM:601051 skos:exactMatch HGNC:7371 Unspecified MSLN +OMIM:601051 skos:exactMatch HGNC_symbol:MSLN Unspecified MSLN +OMIM:601051 skos:exactMatch UMLS:C1334533 Unspecified MSLN +OMIM:601052 skos:exactMatch HGNC_symbol:PIN1 Unspecified PIN1 +OMIM:601052 skos:exactMatch UMLS:C1418582 Unspecified PIN1 +OMIM:601052 skos:exactMatch HGNC:8988 Unspecified PIN1 +OMIM:601053 skos:exactMatch UMLS:C1418664 Unspecified PLXNB1 +OMIM:601053 skos:exactMatch HGNC:9103 Unspecified PLXNB1 +OMIM:601053 skos:exactMatch HGNC_symbol:PLXNB1 Unspecified PLXNB1 +OMIM:601054 skos:exactMatch UMLS:C1418661 Unspecified PLXNA2 +OMIM:601054 skos:exactMatch HGNC_symbol:PLXNA2 Unspecified PLXNA2 +OMIM:601054 skos:exactMatch HGNC:9100 Unspecified PLXNA2 +OMIM:601055 skos:exactMatch UMLS:C1418660 Unspecified PLXNA1 +OMIM:601055 skos:exactMatch HGNC_symbol:PLXNA1 Unspecified PLXNA1 +OMIM:601055 skos:exactMatch HGNC:9099 Unspecified PLXNA1 +OMIM:601056 skos:exactMatch HGNC:991 Unspecified BCL2A1 +OMIM:601056 skos:exactMatch HGNC_symbol:BCL2A1 Unspecified BCL2A1 +OMIM:601056 skos:exactMatch UMLS:C1412761 Unspecified BCL2A1 +OMIM:603698 skos:exactMatch HGNC_symbol:GBF1 Unspecified GBF1 +OMIM:603698 skos:exactMatch HGNC:4181 Unspecified GBF1 +OMIM:603698 skos:exactMatch UMLS:C1415002 Unspecified GBF1 +OMIM:601035 skos:exactMatch HGNC:5041 Unspecified HNRNPH1 +OMIM:601035 skos:exactMatch HGNC_symbol:HNRNPH1 Unspecified HNRNPH1 +OMIM:601035 skos:exactMatch UMLS:C1415642 Unspecified HNRNPH1 +OMIM:603697 skos:exactMatch HGNC:434 Unspecified ALOX15B +OMIM:603697 skos:exactMatch HGNC_symbol:ALOX15B Unspecified ALOX15B +OMIM:603697 skos:exactMatch UMLS:C1412360 Unspecified ALOX15B +OMIM:601037 skos:exactMatch HGNC:5039 Unspecified HNRNPF +OMIM:601037 skos:exactMatch UMLS:C1415641 Unspecified HNRNPF +OMIM:601037 skos:exactMatch HGNC_symbol:HNRNPF Unspecified HNRNPF +OMIM:601038 skos:exactMatch UMLS:C1414053 Unspecified DIO3 +OMIM:601038 skos:exactMatch HGNC:2885 Unspecified DIO3 +OMIM:601038 skos:exactMatch HGNC_symbol:DIO3 Unspecified DIO3 +OMIM:603699 skos:exactMatch HGNC_symbol:WNT11 Unspecified WNT11 +OMIM:603699 skos:exactMatch HGNC:12776 Unspecified WNT11 +OMIM:603699 skos:exactMatch UMLS:C1421512 Unspecified WNT11 +OMIM:601039 skos:exactMatch UMLS:C1832858 Unspecified ichthyosis-mental retardation syndrome with large keratohyalin granules 1n the skin +OMIM:615680 skos:exactMatch HGNC_symbol:CARD16 Unspecified CARD16 +OMIM:615680 skos:exactMatch HGNC:33701 Unspecified CARD16 +OMIM:615680 skos:exactMatch UMLS:C2681322 Unspecified CARD16 +OMIM:266600 skos:exactMatch UMLS:C0010346 Unspecified inflammatory bowel disease (crohn disease) 1 +OMIM:615681 skos:exactMatch UMLS:C4284588 Unspecified spastic paraplegia 62, autosomal recessive +OMIM:613019 skos:exactMatch HGNC:26034 Unspecified SDHAF2 +OMIM:613019 skos:exactMatch HGNC_symbol:SDHAF2 Unspecified SDHAF2 +OMIM:613019 skos:exactMatch UMLS:C2240298 Unspecified SDHAF2 +OMIM:615682 skos:exactMatch UMLS:C1422494 Unspecified SERPINB11 +OMIM:615682 skos:exactMatch HGNC_symbol:SERPINB11 Unspecified SERPINB11 +OMIM:615682 skos:exactMatch HGNC:14221 Unspecified SERPINB11 +OMIM:613018 skos:exactMatch UMLS:C0268487 Unspecified TAT +OMIM:613018 skos:exactMatch HGNC_symbol:TAT Unspecified TAT +OMIM:613018 skos:exactMatch HGNC:11573 Unspecified TAT +OMIM:613018 skos:exactMatch UMLS:C1420590 Unspecified TAT +OMIM:615683 skos:exactMatch UMLS:C3810289 Unspecified spastic paraplegia 64, autosomal recessive +OMIM:613017 skos:exactMatch UMLS:C2751678 Unspecified neuroblastoma, susceptibility to, 6 +OMIM:615684 skos:exactMatch HGNC_symbol:HFM1 Unspecified HFM1 +OMIM:615684 skos:exactMatch UMLS:C1825465 Unspecified HFM1 +OMIM:615684 skos:exactMatch HGNC:20193 Unspecified HFM1 +OMIM:613016 skos:exactMatch UMLS:C2751679 Unspecified neuroblastoma, susceptibility to, 5 +OMIM:615685 skos:exactMatch UMLS:C3810294 Unspecified spastic paraplegia 61, autosomal recessive +OMIM:613015 skos:exactMatch UMLS:C2751680 Unspecified neuroblastoma, susceptibility to, 4 +OMIM:613014 skos:exactMatch UMLS:C2751681 Unspecified neuroblastoma, susceptibility to, 3 +OMIM:615686 skos:exactMatch UMLS:C3810295 Unspecified spastic paraplegia 63, autosomal recessive +OMIM:615676 skos:exactMatch UMLS:C3469973 Unspecified TDRG1 +OMIM:615676 skos:exactMatch HGNC:43642 Unspecified TDRG1 +OMIM:615676 skos:exactMatch HGNC_symbol:TDRG1 Unspecified TDRG1 +OMIM:613024 skos:exactMatch UMLS:C2751665 Unspecified follicular lymphoma, susceptibility to, 1 +OMIM:615677 skos:exactMatch HGNC:15995 Unspecified SERPINA9 +OMIM:615677 skos:exactMatch UMLS:C1423895 Unspecified SERPINA9 +OMIM:615677 skos:exactMatch HGNC_symbol:SERPINA9 Unspecified SERPINA9 +OMIM:613023 skos:exactMatch HGNC_symbol:CEP170 Unspecified CEP170 +OMIM:613023 skos:exactMatch UMLS:C1824721 Unspecified CEP170 +OMIM:613023 skos:exactMatch HGNC:28920 Unspecified CEP170 +OMIM:615678 skos:exactMatch UMLS:C1423579 Unspecified SH3BGRL2 +OMIM:615678 skos:exactMatch HGNC_symbol:SH3BGRL2 Unspecified SH3BGRL2 +OMIM:615678 skos:exactMatch HGNC:15567 Unspecified SH3BGRL2 +OMIM:613022 skos:exactMatch HGNC_symbol:OGDH Unspecified OGDH +OMIM:613022 skos:exactMatch UMLS:C1417943 Unspecified OGDH +OMIM:613022 skos:exactMatch HGNC:8124 Unspecified OGDH +OMIM:613021 skos:exactMatch UMLS:C2751666 Unspecified bronchiectasis with or without elevated sweat chloride 2 +OMIM:615679 skos:exactMatch UMLS:C1423580 Unspecified SH3BGRL3 +OMIM:615679 skos:exactMatch HGNC_symbol:SH3BGRL3 Unspecified SH3BGRL3 +OMIM:615679 skos:exactMatch HGNC:15568 Unspecified SH3BGRL3 +OMIM:601040 skos:exactMatch HGNC:1664 Unspecified SCARB1 +OMIM:601040 skos:exactMatch UMLS:C1413218 Unspecified SCARB1 +OMIM:601040 skos:exactMatch HGNC_symbol:SCARB1 Unspecified SCARB1 +OMIM:601041 skos:exactMatch HGNC:11838 Unspecified TLE2 +OMIM:601041 skos:exactMatch UMLS:C1420753 Unspecified TLE2 +OMIM:601041 skos:exactMatch HGNC_symbol:TLE2 Unspecified TLE2 +OMIM:601042 skos:exactMatch UMLS:C1832855 Unspecified dystonia 9 +OMIM:601045 skos:exactMatch HGNC_symbol:CTNND1 Unspecified CTNND1 +OMIM:601045 skos:exactMatch HGNC:2515 Unspecified CTNND1 +OMIM:601045 skos:exactMatch UMLS:C1413800 Unspecified CTNND1 +OMIM:229400 skos:exactMatch UMLS:C2931720 Unspecified frontofacionasal dysplasia +OMIM:613199 skos:exactMatch HGNC_symbol:TAOK2 Unspecified TAOK2 +OMIM:613199 skos:exactMatch HGNC:16835 Unspecified TAOK2 +OMIM:613199 skos:exactMatch UMLS:C1539923 Unspecified TAOK2 +OMIM:613198 skos:exactMatch HGNC_symbol:KMT5C Unspecified KMT5C +OMIM:613198 skos:exactMatch HGNC:28405 Unspecified KMT5C +OMIM:613198 skos:exactMatch UMLS:C1539901 Unspecified KMT5C +OMIM:613197 skos:exactMatch HGNC_symbol:TRAFD1 Unspecified TRAFD1 +OMIM:613197 skos:exactMatch UMLS:C1823477 Unspecified TRAFD1 +OMIM:613197 skos:exactMatch HGNC:24808 Unspecified TRAFD1 +OMIM:613196 skos:exactMatch HGNC_symbol:ETAA1 Unspecified ETAA1 +OMIM:613196 skos:exactMatch HGNC:24648 Unspecified ETAA1 +OMIM:613196 skos:exactMatch UMLS:C1825070 Unspecified ETAA1 +OMIM:613195 skos:exactMatch UMLS:C2750787 Unspecified weill-marchesani syndrome 4 +OMIM:613194 skos:exactMatch UMLS:C2750789 Unspecified retinitis pigmentosa 50 +OMIM:613193 skos:exactMatch UMLS:C2750790 Unspecified ciliary dyskinesia, primary, 13 +OMIM:613192 skos:exactMatch UMLS:C2750791 Unspecified intellectual developmental disorder, autosomal recessive 13 +OMIM:613191 skos:exactMatch UMLS:C1426331 Unspecified DUSP13 +OMIM:613191 skos:exactMatch HGNC_symbol:DUSP13 Unspecified DUSP13 +OMIM:613191 skos:exactMatch HGNC:19681 Unspecified DUSP13 +OMIM:613190 skos:exactMatch UMLS:C2750790 Unspecified DNAAF1 +OMIM:613190 skos:exactMatch HGNC_symbol:DNAAF1 Unspecified DNAAF1 +OMIM:613190 skos:exactMatch HGNC:30539 Unspecified DNAAF1 +OMIM:613190 skos:exactMatch UMLS:C1825897 Unspecified DNAAF1 +OMIM:613179 skos:exactMatch UMLS:C0268125 Unspecified purine nucleoside phosphorylase deficiency +OMIM:613189 skos:exactMatch HGNC_symbol:MIR107 Unspecified MIR107 +OMIM:613189 skos:exactMatch UMLS:C1537765 Unspecified MIR107 +OMIM:613189 skos:exactMatch HGNC:31496 Unspecified MIR107 +OMIM:613188 skos:exactMatch UMLS:C1537760 Unspecified MIR103-2 +OMIM:613188 skos:exactMatch HGNC:31491 Unspecified MIR103-2 +OMIM:613188 skos:exactMatch HGNC_symbol:MIR103A2 Unspecified MIR103-2 +OMIM:613187 skos:exactMatch UMLS:C1537759 Unspecified MIR103-1 +OMIM:613187 skos:exactMatch HGNC:31490 Unspecified MIR103-1 +OMIM:613187 skos:exactMatch HGNC_symbol:MIR103A1 Unspecified MIR103-1 +OMIM:613186 skos:exactMatch HGNC_symbol:MIR100 Unspecified MIR100 +OMIM:613186 skos:exactMatch UMLS:C1537756 Unspecified MIR100 +OMIM:613186 skos:exactMatch HGNC:31487 Unspecified MIR100 +OMIM:613185 skos:exactMatch UMLS:C1537751 Unspecified MIR95 +OMIM:613185 skos:exactMatch HGNC_symbol:MIR95 Unspecified MIR95 +OMIM:613185 skos:exactMatch HGNC:31647 Unspecified MIR95 +OMIM:613184 skos:exactMatch UMLS:C1540072 Unspecified TRIM68 +OMIM:613184 skos:exactMatch HGNC:21161 Unspecified TRIM68 +OMIM:613184 skos:exactMatch HGNC_symbol:TRIM68 Unspecified TRIM68 +OMIM:613183 skos:exactMatch UMLS:C1826629 Unspecified BOLA3 +OMIM:613183 skos:exactMatch HGNC_symbol:BOLA3 Unspecified BOLA3 +OMIM:613183 skos:exactMatch UMLS:C3280378 Unspecified BOLA3 +OMIM:613183 skos:exactMatch HGNC:24415 Unspecified BOLA3 +OMIM:613182 skos:exactMatch HGNC_symbol:BOLA2 Unspecified BOLA2 +OMIM:613182 skos:exactMatch HGNC:29488 Unspecified BOLA2 +OMIM:613182 skos:exactMatch UMLS:C1826627 Unspecified BOLA2 +OMIM:613181 skos:exactMatch HGNC:24263 Unspecified BOLA1 +OMIM:613181 skos:exactMatch HGNC_symbol:BOLA1 Unspecified BOLA1 +OMIM:613181 skos:exactMatch UMLS:C1826626 Unspecified BOLA1 +OMIM:613180 skos:exactMatch UMLS:C2750798 Unspecified +OMIM:230400 skos:exactMatch UMLS:C0268151 Unspecified galactosemia 1 +OMIM:230400 skos:exactMatch ORPHA:352 Unspecified galactosemia 1 +OMIM:230400 skos:exactMatch ORPHA:79239 Unspecified galactosemia 1 +OMIM:303900 skos:exactMatch UMLS:C3887980 Unspecified colorblindness, partial, protan series +OMIM:205400 skos:exactMatch UMLS:C0039292 Unspecified tangier disease +OMIM:122580 skos:exactMatch UMLS:C1852523 Unspecified costocoracoid ligament, congenitally short +OMIM:217400 skos:exactMatch ORPHA:1490 Unspecified corneal dystrophy and perceptive deafness +OMIM:217400 skos:exactMatch UMLS:C1857572 Unspecified corneal dystrophy and perceptive deafness +OMIM:122561 skos:exactMatch UMLS:C1413709 Unspecified CRHR1 +OMIM:122561 skos:exactMatch HGNC_symbol:CRHR1 Unspecified CRHR1 +OMIM:122561 skos:exactMatch HGNC:2357 Unspecified CRHR1 +OMIM:122560 skos:exactMatch HGNC:2355 Unspecified CRH +OMIM:122560 skos:exactMatch HGNC_symbol:CRH Unspecified CRH +OMIM:122560 skos:exactMatch UMLS:C1366488 Unspecified CRH +OMIM:122550 skos:exactMatch UMLS:C1852526 Unspecified corticosterone side-chain isomerase +OMIM:122559 skos:exactMatch HGNC:2356 Unspecified CRHBP +OMIM:122559 skos:exactMatch UMLS:C1413708 Unspecified CRHBP +OMIM:122559 skos:exactMatch HGNC_symbol:CRHBP Unspecified CRHBP +OMIM:109580 skos:exactMatch HGNC:1130 Unspecified BTG1 +OMIM:109580 skos:exactMatch UMLS:C1439347 Unspecified BTG1 +OMIM:109580 skos:exactMatch HGNC_symbol:BTG1 Unspecified BTG1 +OMIM:603801 skos:exactMatch HGNC_symbol:NMT2 Unspecified NMT2 +OMIM:603801 skos:exactMatch HGNC:7858 Unspecified NMT2 +OMIM:603801 skos:exactMatch UMLS:C1334886 Unspecified NMT2 +OMIM:603800 skos:exactMatch UMLS:C1420526 Unspecified MED21 +OMIM:603800 skos:exactMatch HGNC_symbol:MED21 Unspecified MED21 +OMIM:603800 skos:exactMatch HGNC:11473 Unspecified MED21 +OMIM:603803 skos:exactMatch HGNC_symbol:DACH1 Unspecified DACH1 +OMIM:603803 skos:exactMatch HGNC:2663 Unspecified DACH1 +OMIM:603803 skos:exactMatch UMLS:C1413899 Unspecified DACH1 +OMIM:603802 skos:exactMatch UMLS:C1863516 Unspecified microcephaly with simplified gyral pattern +OMIM:603805 skos:exactMatch HGNC:11781 Unspecified TGM5 +OMIM:603805 skos:exactMatch UMLS:C1420717 Unspecified TGM5 +OMIM:603805 skos:exactMatch HGNC_symbol:TGM5 Unspecified TGM5 +OMIM:603804 skos:exactMatch HGNC:7761 Unspecified NEURL1 +OMIM:603804 skos:exactMatch UMLS:C1334875 Unspecified NEURL1 +OMIM:603804 skos:exactMatch HGNC_symbol:NEURL1 Unspecified NEURL1 +OMIM:603806 skos:exactMatch UMLS:C1863514 Unspecified urinary tract infections, recurrent, susceptibility to +OMIM:603809 skos:exactMatch HGNC_symbol:THRAP3 Unspecified THRAP3 +OMIM:603809 skos:exactMatch HGNC:22964 Unspecified THRAP3 +OMIM:603809 skos:exactMatch UMLS:C1427817 Unspecified THRAP3 +OMIM:603808 skos:exactMatch HGNC:22474 Unspecified MED13 +OMIM:603808 skos:exactMatch HGNC_symbol:MED13 Unspecified MED13 +OMIM:603808 skos:exactMatch UMLS:C1427770 Unspecified MED13 +OMIM:603808 skos:exactMatch UMLS:C5231400 Unspecified MED13 +OMIM:109545 skos:exactMatch HGNC_symbol:TNFRSF17 Unspecified TNFRSF17 +OMIM:109545 skos:exactMatch HGNC:11913 Unspecified TNFRSF17 +OMIM:109545 skos:exactMatch UMLS:C1420809 Unspecified TNFRSF17 +OMIM:109560 skos:exactMatch UMLS:C0812238 Unspecified BCL3 +OMIM:109560 skos:exactMatch HGNC:998 Unspecified BCL3 +OMIM:109560 skos:exactMatch HGNC_symbol:BCL3 Unspecified BCL3 +OMIM:109565 skos:exactMatch UMLS:C1332399 Unspecified BCL6 +OMIM:109565 skos:exactMatch HGNC:1001 Unspecified BCL6 +OMIM:109565 skos:exactMatch HGNC_symbol:BCL6 Unspecified BCL6 +OMIM:109565 skos:exactMatch UMLS:C1864273 Unspecified BCL6 +OMIM:109565 skos:exactMatch UMLS:C1864437 Unspecified BCL6 +OMIM:109565 skos:exactMatch UMLS:C1862294 Unspecified BCL6 +OMIM:109565 skos:exactMatch UMLS:C1862293 Unspecified BCL6 +OMIM:109530 skos:exactMatch HGNC_symbol:CD48 Unspecified CD48 +OMIM:109530 skos:exactMatch HGNC:1683 Unspecified CD48 +OMIM:109530 skos:exactMatch UMLS:C1413226 Unspecified CD48 +OMIM:122500 skos:exactMatch HGNC_symbol:SERPINA6 Unspecified SERPINA6 +OMIM:122500 skos:exactMatch HGNC:1540 Unspecified SERPINA6 +OMIM:122500 skos:exactMatch UMLS:C1413150 Unspecified SERPINA6 +OMIM:109543 skos:exactMatch UMLS:C1868683 Unspecified leukemia, chronic lymphocytic, susceptibility to, 2 +OMIM:109540 skos:exactMatch UMLS:C1862295 Unspecified b-cell growth factor +OMIM:109535 skos:exactMatch UMLS:C1539081 Unspecified CD40 +OMIM:109535 skos:exactMatch HGNC:11919 Unspecified CD40 +OMIM:109535 skos:exactMatch HGNC_symbol:CD40 Unspecified CD40 +OMIM:603720 skos:exactMatch UMLS:C1863561 Unspecified deafness, autosomal recessive 16 +OMIM:603722 skos:exactMatch UMLS:C0013364 Unspecified ELP1 +OMIM:603722 skos:exactMatch HGNC:5959 Unspecified ELP1 +OMIM:603722 skos:exactMatch UMLS:C1416379 Unspecified ELP1 +OMIM:603722 skos:exactMatch HGNC_symbol:ELP1 Unspecified ELP1 +OMIM:603721 skos:exactMatch HGNC_symbol:UBE2L3 Unspecified UBE2L3 +OMIM:603721 skos:exactMatch HGNC:12488 Unspecified UBE2L3 +OMIM:603721 skos:exactMatch UMLS:C1421286 Unspecified UBE2L3 +OMIM:109630 skos:exactMatch HGNC:285 Unspecified ADRB1 +OMIM:109630 skos:exactMatch HGNC_symbol:ADRB1 Unspecified ADRB1 +OMIM:109630 skos:exactMatch UMLS:C1439273 Unspecified ADRB1 +OMIM:109630 skos:exactMatch UMLS:C1821417 Unspecified ADRB1 +OMIM:109630 skos:exactMatch UMLS:C2676080 Unspecified ADRB1 +OMIM:109630 skos:exactMatch UMLS:C5231420 Unspecified ADRB1 +OMIM:603726 skos:exactMatch HGNC_symbol:FGF18 Unspecified FGF18 +OMIM:603726 skos:exactMatch HGNC:3674 Unspecified FGF18 +OMIM:603726 skos:exactMatch UMLS:C1414602 Unspecified FGF18 +OMIM:603725 skos:exactMatch HGNC_symbol:FGF17 Unspecified FGF17 +OMIM:603725 skos:exactMatch HGNC:3673 Unspecified FGF17 +OMIM:603725 skos:exactMatch UMLS:C1414601 Unspecified FGF17 +OMIM:603728 skos:exactMatch HGNC_symbol:NUMB Unspecified NUMB +OMIM:603728 skos:exactMatch UMLS:C1417890 Unspecified NUMB +OMIM:603728 skos:exactMatch HGNC:8060 Unspecified NUMB +OMIM:603727 skos:exactMatch HGNC_symbol:QARS1 Unspecified QARS1 +OMIM:603727 skos:exactMatch UMLS:C1419181 Unspecified QARS1 +OMIM:603727 skos:exactMatch HGNC:9751 Unspecified QARS1 +OMIM:603729 skos:exactMatch UMLS:C1420014 Unspecified SGPL1 +OMIM:603729 skos:exactMatch HGNC:10817 Unspecified SGPL1 +OMIM:603729 skos:exactMatch HGNC_symbol:SGPL1 Unspecified SGPL1 +OMIM:313350 skos:exactMatch UMLS:C1839258 Unspecified split-hand/foot malformation 2 +OMIM:615700 skos:exactMatch HGNC_symbol:PYDC1 Unspecified PYDC1 +OMIM:615700 skos:exactMatch UMLS:C1538757 Unspecified PYDC1 +OMIM:615700 skos:exactMatch HGNC:30261 Unspecified PYDC1 +OMIM:615701 skos:exactMatch UMLS:C2678589 Unspecified PYDC2 +OMIM:615701 skos:exactMatch HGNC_symbol:PYDC2 Unspecified PYDC2 +OMIM:615701 skos:exactMatch HGNC:33512 Unspecified PYDC2 +OMIM:615702 skos:exactMatch UMLS:C1423344 Unspecified OR5AN1 +OMIM:615702 skos:exactMatch HGNC:15255 Unspecified OR5AN1 +OMIM:615702 skos:exactMatch HGNC_symbol:OR5AN1 Unspecified OR5AN1 +OMIM:615703 skos:exactMatch UMLS:C3810324 Unspecified morbid obesity and spermatogenic failure +OMIM:615704 skos:exactMatch UMLS:C3810325 Unspecified poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis +OMIM:615705 skos:exactMatch UMLS:C3810326 Unspecified spinocerebellar ataxia, autosomal recessive 15 +OMIM:615705 skos:exactMatch ORPHA:404499 Unspecified spinocerebellar ataxia, autosomal recessive 15 +OMIM:615706 skos:exactMatch UMLS:C3810332 Unspecified auriculocondylar syndrome 3 +OMIM:615707 skos:exactMatch UMLS:C3810342 Unspecified immunodeficiency 20 +OMIM:615707 skos:exactMatch ORPHA:437552 Unspecified immunodeficiency 20 +OMIM:615708 skos:exactMatch HGNC:21091 Unspecified ZNF451 +OMIM:615708 skos:exactMatch HGNC_symbol:ZNF451 Unspecified ZNF451 +OMIM:615708 skos:exactMatch UMLS:C1427310 Unspecified ZNF451 +OMIM:615709 skos:exactMatch UMLS:C3810343 Unspecified sacral agenesis with vertebral anomalies +OMIM:122600 skos:exactMatch ORPHA:1797 Unspecified spondylocostal dysostosis 5 +OMIM:122600 skos:exactMatch UMLS:C4083048 Unspecified spondylocostal dysostosis 5 +OMIM:603711 skos:exactMatch UMLS:C1413894 Unspecified CYP7B1 +OMIM:603711 skos:exactMatch UMLS:C3151147 Unspecified CYP7B1 +OMIM:603711 skos:exactMatch UMLS:C1849115 Unspecified CYP7B1 +OMIM:603711 skos:exactMatch HGNC:2652 Unspecified CYP7B1 +OMIM:603711 skos:exactMatch HGNC_symbol:CYP7B1 Unspecified CYP7B1 +OMIM:603710 skos:exactMatch HGNC_symbol:ADAM23 Unspecified ADAM23 +OMIM:603710 skos:exactMatch HGNC:202 Unspecified ADAM23 +OMIM:603710 skos:exactMatch UMLS:C1412193 Unspecified ADAM23 +OMIM:603713 skos:exactMatch UMLS:C1412191 Unspecified ADAM21 +OMIM:603713 skos:exactMatch HGNC_symbol:ADAM21 Unspecified ADAM21 +OMIM:603713 skos:exactMatch HGNC:200 Unspecified ADAM21 +OMIM:603712 skos:exactMatch UMLS:C1412190 Unspecified ADAM20 +OMIM:603712 skos:exactMatch HGNC_symbol:ADAM20 Unspecified ADAM20 +OMIM:603712 skos:exactMatch HGNC:199 Unspecified ADAM20 +OMIM:603715 skos:exactMatch HGNC_symbol:GCM1 Unspecified GCM1 +OMIM:603715 skos:exactMatch HGNC:4197 Unspecified GCM1 +OMIM:603715 skos:exactMatch UMLS:C1415016 Unspecified GCM1 +OMIM:109640 skos:exactMatch UMLS:C1415192 Unspecified beta-glycerol phosphatase +OMIM:603714 skos:exactMatch HGNC_symbol:SIX3 Unspecified SIX3 +OMIM:603714 skos:exactMatch UMLS:C1420074 Unspecified SIX3 +OMIM:603714 skos:exactMatch HGNC:10889 Unspecified SIX3 +OMIM:603717 skos:exactMatch UMLS:C1412681 Unspecified ATP6V0B +OMIM:603717 skos:exactMatch HGNC_symbol:ATP6V0B Unspecified ATP6V0B +OMIM:603717 skos:exactMatch HGNC:861 Unspecified ATP6V0B +OMIM:603716 skos:exactMatch UMLS:C5394383 Unspecified GCM2 +OMIM:603716 skos:exactMatch UMLS:C4479229 Unspecified GCM2 +OMIM:603716 skos:exactMatch HGNC_symbol:GCM2 Unspecified GCM2 +OMIM:603716 skos:exactMatch HGNC:4198 Unspecified GCM2 +OMIM:603716 skos:exactMatch UMLS:C1415017 Unspecified GCM2 +OMIM:603719 skos:exactMatch UMLS:C1412855 Unspecified BUB3 +OMIM:603719 skos:exactMatch HGNC_symbol:BUB3 Unspecified BUB3 +OMIM:603719 skos:exactMatch HGNC:1151 Unspecified BUB3 +OMIM:603718 skos:exactMatch UMLS:C1413460 Unspecified CLDN1 +OMIM:603718 skos:exactMatch HGNC_symbol:CLDN1 Unspecified CLDN1 +OMIM:603718 skos:exactMatch HGNC:2032 Unspecified CLDN1 +OMIM:109635 skos:exactMatch HGNC:289 Unspecified GRK2 +OMIM:109635 skos:exactMatch HGNC_symbol:GRK2 Unspecified GRK2 +OMIM:109635 skos:exactMatch UMLS:C1366490 Unspecified GRK2 +OMIM:109636 skos:exactMatch HGNC:290 Unspecified ADRBK2 +OMIM:109636 skos:exactMatch HGNC_symbol:GRK3 Unspecified ADRBK2 +OMIM:109636 skos:exactMatch UMLS:C1332030 Unspecified ADRBK2 +OMIM:603700 skos:exactMatch UMLS:C1412362 Unspecified ALOX5AP +OMIM:603700 skos:exactMatch HGNC_symbol:ALOX5AP Unspecified ALOX5AP +OMIM:603700 skos:exactMatch HGNC:436 Unspecified ALOX5AP +OMIM:603702 skos:exactMatch UMLS:C1335642 Unspecified RPS27 +OMIM:603702 skos:exactMatch HGNC_symbol:RPS27 Unspecified RPS27 +OMIM:603702 skos:exactMatch HGNC:10416 Unspecified RPS27 +OMIM:603701 skos:exactMatch UMLS:C1419728 Unspecified RPS26 +OMIM:603701 skos:exactMatch HGNC_symbol:RPS26 Unspecified RPS26 +OMIM:603701 skos:exactMatch HGNC:10414 Unspecified RPS26 +OMIM:603704 skos:exactMatch HGNC_symbol:RPL26 Unspecified RPL26 +OMIM:603704 skos:exactMatch UMLS:C1419651 Unspecified RPL26 +OMIM:603704 skos:exactMatch HGNC:10327 Unspecified RPL26 +OMIM:603703 skos:exactMatch UMLS:C1419685 Unspecified RPL6 +OMIM:603703 skos:exactMatch HGNC_symbol:RPL6 Unspecified RPL6 +OMIM:603703 skos:exactMatch HGNC:10362 Unspecified RPL6 +OMIM:603706 skos:exactMatch UMLS:C1419952 Unspecified SEMA4F +OMIM:603706 skos:exactMatch HGNC:10734 Unspecified SEMA4F +OMIM:603706 skos:exactMatch HGNC_symbol:SEMA4F Unspecified SEMA4F +OMIM:603705 skos:exactMatch UMLS:C1412398 Unspecified ANGPT4 +OMIM:603705 skos:exactMatch HGNC_symbol:ANGPT4 Unspecified ANGPT4 +OMIM:603705 skos:exactMatch HGNC:487 Unspecified ANGPT4 +OMIM:603708 skos:exactMatch HGNC:7193 Unspecified MOCS2 +OMIM:603708 skos:exactMatch UMLS:C1417227 Unspecified MOCS2 +OMIM:603708 skos:exactMatch HGNC_symbol:MOCS2 Unspecified MOCS2 +OMIM:603707 skos:exactMatch HGNC:7190 Unspecified MOCS1 +OMIM:603707 skos:exactMatch UMLS:C1417224 Unspecified MOCS1 +OMIM:603707 skos:exactMatch HGNC_symbol:MOCS1 Unspecified MOCS1 +OMIM:603709 skos:exactMatch UMLS:C1412192 Unspecified ADAM22 +OMIM:603709 skos:exactMatch HGNC_symbol:ADAM22 Unspecified ADAM22 +OMIM:603709 skos:exactMatch UMLS:C4693688 Unspecified ADAM22 +OMIM:603709 skos:exactMatch HGNC:201 Unspecified ADAM22 +OMIM:110600 skos:exactMatch HGNC:726 Unspecified ART4 +OMIM:110600 skos:exactMatch HGNC_symbol:ART4 Unspecified ART4 +OMIM:110600 skos:exactMatch UMLS:C1825087 Unspecified ART4 +OMIM:109600 skos:exactMatch UMLS:C1862292 Unspecified beeturia +OMIM:134500 skos:exactMatch UMLS:C3494187 Unspecified factor 8 deficiency +OMIM:109610 skos:exactMatch HGNC:1158 Unspecified TSPO +OMIM:109610 skos:exactMatch UMLS:C1823521 Unspecified TSPO +OMIM:109610 skos:exactMatch HGNC_symbol:TSPO Unspecified TSPO +OMIM:603764 skos:exactMatch HGNC:1776 Unspecified CDK5R2 +OMIM:603764 skos:exactMatch UMLS:C1413286 Unspecified CDK5R2 +OMIM:603764 skos:exactMatch HGNC_symbol:CDK5R2 Unspecified CDK5R2 +OMIM:601101 skos:exactMatch UMLS:C1832774 Unspecified telangiectasia, hereditary hemorrhagic, iia 3 +OMIM:601102 skos:exactMatch HGNC:3284 Unspecified EIF4A2 +OMIM:601102 skos:exactMatch UMLS:C1414349 Unspecified EIF4A2 +OMIM:601102 skos:exactMatch HGNC_symbol:EIF4A2 Unspecified EIF4A2 +OMIM:603763 skos:exactMatch UMLS:C1416694 Unspecified KIFC1 +OMIM:603763 skos:exactMatch HGNC_symbol:KIFC1 Unspecified KIFC1 +OMIM:603763 skos:exactMatch HGNC:6389 Unspecified KIFC1 +OMIM:603766 skos:exactMatch UMLS:C1417427 Unspecified MTIF2 +OMIM:603766 skos:exactMatch HGNC:7441 Unspecified MTIF2 +OMIM:603766 skos:exactMatch HGNC_symbol:MTIF2 Unspecified MTIF2 +OMIM:601103 skos:exactMatch HGNC_symbol:MFAP5 Unspecified MFAP5 +OMIM:601103 skos:exactMatch HGNC:29673 Unspecified MFAP5 +OMIM:601103 skos:exactMatch UMLS:C1428886 Unspecified MFAP5 +OMIM:266350 skos:exactMatch UMLS:C1849451 Unspecified red skin pigment anomaly of new guinea +OMIM:601104 skos:exactMatch UMLS:C4551863 Unspecified supranuclear palsy, progressive, 1 +OMIM:603765 skos:exactMatch UMLS:C1420493 Unspecified STX10 +OMIM:603765 skos:exactMatch HGNC:11428 Unspecified STX10 +OMIM:603765 skos:exactMatch HGNC_symbol:STX10 Unspecified STX10 +OMIM:601105 skos:exactMatch HGNC:2536 Unspecified CTSK +OMIM:601105 skos:exactMatch UMLS:C1413815 Unspecified CTSK +OMIM:601105 skos:exactMatch HGNC_symbol:CTSK Unspecified CTSK +OMIM:603768 skos:exactMatch HGNC_symbol:PPP1R12B Unspecified PPP1R12B +OMIM:603768 skos:exactMatch UMLS:C1417582 Unspecified PPP1R12B +OMIM:603768 skos:exactMatch HGNC:7619 Unspecified PPP1R12B +OMIM:134510 skos:exactMatch UMLS:C1851376 Unspecified factor 8 and factor ix, combined deficiency of +OMIM:603767 skos:exactMatch UMLS:C1416675 Unspecified KLK4 +OMIM:603767 skos:exactMatch HGNC_symbol:KLK4 Unspecified KLK4 +OMIM:603767 skos:exactMatch HGNC:6365 Unspecified KLK4 +OMIM:601107 skos:exactMatch HGNC_symbol:ABCC2 Unspecified ABCC2 +OMIM:601107 skos:exactMatch HGNC:53 Unspecified ABCC2 +OMIM:601107 skos:exactMatch UMLS:C1412077 Unspecified ABCC2 +OMIM:603769 skos:exactMatch HGNC_symbol:TCL1B Unspecified TCL1B +OMIM:603769 skos:exactMatch HGNC:11649 Unspecified TCL1B +OMIM:603769 skos:exactMatch UMLS:C1336598 Unspecified TCL1B +OMIM:601109 skos:exactMatch HGNC:5301 Unspecified HTR6 +OMIM:601109 skos:exactMatch HGNC_symbol:HTR6 Unspecified HTR6 +OMIM:601109 skos:exactMatch UMLS:C1415815 Unspecified HTR6 +OMIM:615750 skos:exactMatch UMLS:C3810403 Unspecified moyamoya disease 6 with or without achalasia +OMIM:615751 skos:exactMatch UMLS:C3810404 Unspecified carbonic anhydrase 5a deficiency, hyperammonemia due to +OMIM:615752 skos:exactMatch UMLS:C3810405 Unspecified polymicrogyria, bilateral perisylvian, autosomal recessive +OMIM:615742 skos:exactMatch HGNC:21965 Unspecified RGP1 +OMIM:615742 skos:exactMatch HGNC_symbol:RGP1 Unspecified RGP1 +OMIM:615742 skos:exactMatch UMLS:C2239884 Unspecified RGP1 +OMIM:615743 skos:exactMatch UMLS:C1822689 Unspecified SETD5 +OMIM:615743 skos:exactMatch UMLS:C3810406 Unspecified SETD5 +OMIM:615743 skos:exactMatch HGNC_symbol:SETD5 Unspecified SETD5 +OMIM:615743 skos:exactMatch HGNC:25566 Unspecified SETD5 +OMIM:615744 skos:exactMatch ORPHA:33069 Unspecified developmental and epileptic encephalopathy 19 +OMIM:615744 skos:exactMatch UMLS:C3810400 Unspecified developmental and epileptic encephalopathy 19 +OMIM:615745 skos:exactMatch UMLS:C3810401 Unspecified atrial standstill 2 +OMIM:615746 skos:exactMatch UMLS:C1824086 Unspecified ZXDC +OMIM:615746 skos:exactMatch HGNC_symbol:ZXDC Unspecified ZXDC +OMIM:615746 skos:exactMatch HGNC:28160 Unspecified ZXDC +OMIM:615747 skos:exactMatch HGNC:1820 Unspecified CEACAM8 +OMIM:615747 skos:exactMatch UMLS:C1413310 Unspecified CEACAM8 +OMIM:615747 skos:exactMatch HGNC_symbol:CEACAM8 Unspecified CEACAM8 +OMIM:615748 skos:exactMatch UMLS:C1537460 Unspecified WASHC4 +OMIM:615748 skos:exactMatch HGNC_symbol:WASHC4 Unspecified WASHC4 +OMIM:615748 skos:exactMatch HGNC:29174 Unspecified WASHC4 +OMIM:615749 skos:exactMatch UMLS:C3810402 Unspecified eculizumab, poor response to +OMIM:603771 skos:exactMatch HGNC:9284 Unspecified PPP1R10 +OMIM:603771 skos:exactMatch UMLS:C1418822 Unspecified PPP1R10 +OMIM:603771 skos:exactMatch HGNC_symbol:PPP1R10 Unspecified PPP1R10 +OMIM:603770 skos:exactMatch HGNC:9276 Unspecified PPM1B +OMIM:603770 skos:exactMatch UMLS:C1418815 Unspecified PPM1B +OMIM:603770 skos:exactMatch HGNC_symbol:PPM1B Unspecified PPM1B +OMIM:601110 skos:exactMatch UMLS:C1832736 Unspecified congenital disorder of glycosylation, iia id +OMIM:603773 skos:exactMatch UMLS:C1413636 Unspecified COX5A +OMIM:603773 skos:exactMatch HGNC_symbol:COX5A Unspecified COX5A +OMIM:603773 skos:exactMatch UMLS:C5436726 Unspecified COX5A +OMIM:603773 skos:exactMatch HGNC:2267 Unspecified COX5A +OMIM:603772 skos:exactMatch HGNC:2963 Unspecified DYNC1I1 +OMIM:603772 skos:exactMatch UMLS:C1825006 Unspecified DYNC1I1 +OMIM:603772 skos:exactMatch HGNC_symbol:DYNC1I1 Unspecified DYNC1I1 +OMIM:603753 skos:exactMatch UMLS:C1421296 Unspecified UBE4A +OMIM:603753 skos:exactMatch HGNC_symbol:UBE4A Unspecified UBE4A +OMIM:603753 skos:exactMatch HGNC:12499 Unspecified UBE4A +OMIM:603752 skos:exactMatch UMLS:C1420224 Unspecified SLC7A4 +OMIM:603752 skos:exactMatch HGNC_symbol:SLC7A4 Unspecified SLC7A4 +OMIM:603752 skos:exactMatch HGNC:11062 Unspecified SLC7A4 +OMIM:603755 skos:exactMatch HGNC_symbol:ZFYVE9 Unspecified ZFYVE9 +OMIM:603755 skos:exactMatch UMLS:C1538172 Unspecified ZFYVE9 +OMIM:603755 skos:exactMatch HGNC:6775 Unspecified ZFYVE9 +OMIM:603754 skos:exactMatch UMLS:C1416635 Unspecified KIF3B +OMIM:603754 skos:exactMatch HGNC_symbol:KIF3B Unspecified KIF3B +OMIM:603754 skos:exactMatch HGNC:6320 Unspecified KIF3B +OMIM:603754 skos:exactMatch UMLS:C5394552 Unspecified KIF3B +OMIM:603757 skos:exactMatch UMLS:C1332681 Unspecified CCL18 +OMIM:603757 skos:exactMatch HGNC:10616 Unspecified CCL18 +OMIM:603757 skos:exactMatch HGNC_symbol:CCL18 Unspecified CCL18 +OMIM:603756 skos:exactMatch HGNC_symbol:ABCG2 Unspecified ABCG2 +OMIM:603756 skos:exactMatch HGNC:74 Unspecified ABCG2 +OMIM:603756 skos:exactMatch UMLS:C1332002 Unspecified ABCG2 +OMIM:134520 skos:exactMatch UMLS:C1851375 Unspecified factors viii, 9 and xi, combined deficiency of +OMIM:603759 skos:exactMatch HGNC_symbol:LHX2 Unspecified LHX2 +OMIM:603759 skos:exactMatch UMLS:C1334338 Unspecified LHX2 +OMIM:603759 skos:exactMatch HGNC:6594 Unspecified LHX2 +OMIM:603758 skos:exactMatch HGNC:4643 Unspecified GSTZ1 +OMIM:603758 skos:exactMatch UMLS:C1415341 Unspecified GSTZ1 +OMIM:603758 skos:exactMatch HGNC_symbol:GSTZ1 Unspecified GSTZ1 +OMIM:615740 skos:exactMatch UMLS:C1426057 Unspecified TBC1D5 +OMIM:615740 skos:exactMatch HGNC_symbol:TBC1D5 Unspecified TBC1D5 +OMIM:615740 skos:exactMatch HGNC:19166 Unspecified TBC1D5 +OMIM:615741 skos:exactMatch HGNC:28969 Unspecified DELE1 +OMIM:615741 skos:exactMatch HGNC_symbol:DELE1 Unspecified DELE1 +OMIM:615741 skos:exactMatch UMLS:C1537445 Unspecified DELE1 +OMIM:615731 skos:exactMatch UMLS:C3810384 Unspecified nemaline myopathy 9 +OMIM:615732 skos:exactMatch UMLS:C1538492 Unspecified NSUN5 +OMIM:615732 skos:exactMatch HGNC:16385 Unspecified NSUN5 +OMIM:615732 skos:exactMatch HGNC_symbol:NSUN5 Unspecified NSUN5 +OMIM:615733 skos:exactMatch HGNC_symbol:BUD23 Unspecified BUD23 +OMIM:615733 skos:exactMatch HGNC:16405 Unspecified BUD23 +OMIM:615733 skos:exactMatch UMLS:C1424253 Unspecified BUD23 +OMIM:615734 skos:exactMatch HGNC_symbol:WDR47 Unspecified WDR47 +OMIM:615734 skos:exactMatch HGNC:29141 Unspecified WDR47 +OMIM:615734 skos:exactMatch UMLS:C1538091 Unspecified WDR47 +OMIM:615735 skos:exactMatch UMLS:C3810394 Unspecified palmoplantar keratoderma, nonepidermolytic, focal or diffuse +OMIM:615736 skos:exactMatch HGNC:35454 Unspecified ECSCR +OMIM:615736 skos:exactMatch HGNC_symbol:ECSCR Unspecified ECSCR +OMIM:615736 skos:exactMatch UMLS:C2681448 Unspecified ECSCR +OMIM:146500 skos:exactMatch UMLS:C3714927 Unspecified multiple system atrophy 1, susceptibility to +OMIM:146500 skos:exactMatch ORPHA:102 Unspecified multiple system atrophy 1, susceptibility to +OMIM:615737 skos:exactMatch HGNC:32565 Unspecified IZUMO1R +OMIM:615737 skos:exactMatch HGNC_symbol:IZUMO1R Unspecified IZUMO1R +OMIM:615737 skos:exactMatch UMLS:C2681534 Unspecified IZUMO1R +OMIM:615738 skos:exactMatch UMLS:C1412871 Unspecified VPS51 +OMIM:615738 skos:exactMatch HGNC_symbol:VPS51 Unspecified VPS51 +OMIM:615738 skos:exactMatch HGNC:1172 Unspecified VPS51 +OMIM:615739 skos:exactMatch UMLS:C1418770 Unspecified POU5F1B +OMIM:615739 skos:exactMatch HGNC:9223 Unspecified POU5F1B +OMIM:615739 skos:exactMatch HGNC_symbol:POU5F1B Unspecified POU5F1B +OMIM:603760 skos:exactMatch HGNC_symbol:HUS1 Unspecified HUS1 +OMIM:603760 skos:exactMatch UMLS:C1415818 Unspecified HUS1 +OMIM:603760 skos:exactMatch HGNC:5309 Unspecified HUS1 +OMIM:603762 skos:exactMatch HGNC:9467 Unspecified PRPSAP2 +OMIM:603762 skos:exactMatch HGNC_symbol:PRPSAP2 Unspecified PRPSAP2 +OMIM:603762 skos:exactMatch UMLS:C1418959 Unspecified PRPSAP2 +OMIM:601100 skos:exactMatch UMLS:C1420458 Unspecified HSPA13 +OMIM:601100 skos:exactMatch HGNC_symbol:HSPA13 Unspecified HSPA13 +OMIM:601100 skos:exactMatch HGNC:11375 Unspecified HSPA13 +OMIM:603761 skos:exactMatch HGNC_symbol:RAD9A Unspecified RAD9A +OMIM:603761 skos:exactMatch HGNC:9827 Unspecified RAD9A +OMIM:603761 skos:exactMatch UMLS:C1419245 Unspecified RAD9A +OMIM:603742 skos:exactMatch UMLS:C1420243 Unspecified SLIT1 +OMIM:603742 skos:exactMatch HGNC_symbol:SLIT1 Unspecified SLIT1 +OMIM:603742 skos:exactMatch HGNC:11085 Unspecified SLIT1 +OMIM:603741 skos:exactMatch HGNC:430 Unspecified ALOX12B +OMIM:603741 skos:exactMatch HGNC_symbol:ALOX12B Unspecified ALOX12B +OMIM:603741 skos:exactMatch UMLS:C1412357 Unspecified ALOX12B +OMIM:603744 skos:exactMatch UMLS:C1709457 Unspecified papillary thyroid microcarcinoma +OMIM:603743 skos:exactMatch HGNC:618 Unspecified APOL1 +OMIM:603743 skos:exactMatch UMLS:C1412485 Unspecified APOL1 +OMIM:603743 skos:exactMatch HGNC_symbol:APOL1 Unspecified APOL1 +OMIM:603746 skos:exactMatch HGNC:11086 Unspecified SLIT2 +OMIM:603746 skos:exactMatch UMLS:C1420244 Unspecified SLIT2 +OMIM:603746 skos:exactMatch HGNC_symbol:SLIT2 Unspecified SLIT2 +OMIM:603745 skos:exactMatch HGNC:11087 Unspecified SLIT3 +OMIM:603745 skos:exactMatch UMLS:C1420245 Unspecified SLIT3 +OMIM:603745 skos:exactMatch HGNC_symbol:SLIT3 Unspecified SLIT3 +OMIM:603747 skos:exactMatch UMLS:C1420869 Unspecified TPD52L2 +OMIM:603747 skos:exactMatch HGNC_symbol:TPD52L2 Unspecified TPD52L2 +OMIM:603747 skos:exactMatch HGNC:12007 Unspecified TPD52L2 +OMIM:158500 skos:exactMatch UMLS:C0342281 Unspecified muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus +OMIM:603749 skos:exactMatch HGNC:12339 Unspecified TRPM2 +OMIM:603749 skos:exactMatch UMLS:C1421174 Unspecified TRPM2 +OMIM:603749 skos:exactMatch HGNC_symbol:TRPM2 Unspecified TRPM2 +OMIM:615730 skos:exactMatch UMLS:C4014492 Unspecified DOCK7 +OMIM:615730 skos:exactMatch UMLS:C1426078 Unspecified DOCK7 +OMIM:615730 skos:exactMatch HGNC_symbol:DOCK7 Unspecified DOCK7 +OMIM:615730 skos:exactMatch HGNC:19190 Unspecified DOCK7 +OMIM:615720 skos:exactMatch HGNC:29326 Unspecified SLC7A14 +OMIM:615720 skos:exactMatch UMLS:C1822738 Unspecified SLC7A14 +OMIM:615720 skos:exactMatch HGNC_symbol:SLC7A14 Unspecified SLC7A14 +OMIM:615721 skos:exactMatch UMLS:C3810359 Unspecified renal hypodysplasia/aplasia 2 +OMIM:615722 skos:exactMatch UMLS:C3810363 Unspecified bosch-boonstra-schaaf optic atrophy syndrome +OMIM:615723 skos:exactMatch UMLS:C3810367 Unspecified premature ovarian failure 8 +OMIM:146510 skos:exactMatch UMLS:C0265220 Unspecified pallister-hall syndrome +OMIM:615724 skos:exactMatch UMLS:C3810376 Unspecified premature ovarian failure 9 +OMIM:615725 skos:exactMatch UMLS:C3810380 Unspecified retinitis pigmentosa 68 +OMIM:615726 skos:exactMatch ORPHA:2309 Unspecified pachyonychia congenita 3 +OMIM:615726 skos:exactMatch UMLS:C3714948 Unspecified pachyonychia congenita 3 +OMIM:615727 skos:exactMatch HGNC_symbol:KIR2DL5B Unspecified KIR2DL5B +OMIM:615727 skos:exactMatch UMLS:C1825710 Unspecified KIR2DL5B +OMIM:615727 skos:exactMatch HGNC:16346 Unspecified KIR2DL5B +OMIM:615728 skos:exactMatch ORPHA:2309 Unspecified pachyonychia congenita 4 +OMIM:615728 skos:exactMatch UMLS:C3714949 Unspecified pachyonychia congenita 4 +OMIM:615729 skos:exactMatch HGNC_symbol:SBNO2 Unspecified SBNO2 +OMIM:615729 skos:exactMatch HGNC:29158 Unspecified SBNO2 +OMIM:615729 skos:exactMatch UMLS:C1822616 Unspecified SBNO2 +OMIM:603751 skos:exactMatch UMLS:C1414258 Unspecified S1PR4 +OMIM:603751 skos:exactMatch HGNC_symbol:S1PR4 Unspecified S1PR4 +OMIM:603751 skos:exactMatch HGNC:3170 Unspecified S1PR4 +OMIM:603750 skos:exactMatch HGNC:642 Unspecified AQP8 +OMIM:603750 skos:exactMatch UMLS:C1412498 Unspecified AQP8 +OMIM:603750 skos:exactMatch HGNC_symbol:AQP8 Unspecified AQP8 +OMIM:603731 skos:exactMatch UMLS:C1418757 Unspecified CNOT8 +OMIM:603731 skos:exactMatch HGNC:9207 Unspecified CNOT8 +OMIM:603731 skos:exactMatch HGNC_symbol:CNOT8 Unspecified CNOT8 +OMIM:603730 skos:exactMatch HGNC:11240 Unspecified SPHK1 +OMIM:603730 skos:exactMatch HGNC_symbol:SPHK1 Unspecified SPHK1 +OMIM:603730 skos:exactMatch UMLS:C1420357 Unspecified SPHK1 +OMIM:603733 skos:exactMatch UMLS:C1418772 Unspecified SLC43A1 +OMIM:603733 skos:exactMatch HGNC:9225 Unspecified SLC43A1 +OMIM:603733 skos:exactMatch HGNC_symbol:SLC43A1 Unspecified SLC43A1 +OMIM:603732 skos:exactMatch HGNC:2385 Unspecified CRY2 +OMIM:603732 skos:exactMatch UMLS:C1413725 Unspecified CRY2 +OMIM:603732 skos:exactMatch HGNC_symbol:CRY2 Unspecified CRY2 +OMIM:603735 skos:exactMatch HGNC_symbol:AOC3 Unspecified AOC3 +OMIM:603735 skos:exactMatch HGNC:550 Unspecified AOC3 +OMIM:603735 skos:exactMatch UMLS:C1412431 Unspecified AOC3 +OMIM:603734 skos:exactMatch HGNC_symbol:IRF3 Unspecified IRF3 +OMIM:603734 skos:exactMatch UMLS:C1334139 Unspecified IRF3 +OMIM:603734 skos:exactMatch HGNC:6118 Unspecified IRF3 +OMIM:603737 skos:exactMatch UMLS:C0346180 Unspecified ovarian germ cell cancer +OMIM:603736 skos:exactMatch ORPHA:3047 Unspecified ohdo syndrome, sbbys variant +OMIM:603736 skos:exactMatch UMLS:C1863557 Unspecified ohdo syndrome, sbbys variant +OMIM:134540 skos:exactMatch UMLS:C1851374 Unspecified factor 9 and factor xi, combined deficiency of +OMIM:603739 skos:exactMatch UMLS:C1412838 Unspecified basic transcription factor 3 pseudogene 13 +OMIM:603739 skos:exactMatch HGNC:1128 Unspecified basic transcription factor 3 pseudogene 13 +OMIM:603739 skos:exactMatch HGNC_symbol:BTF3P13 Unspecified basic transcription factor 3 pseudogene 13 +OMIM:603738 skos:exactMatch UMLS:C1412837 Unspecified basic transcription factor 3 pseudogene 12 +OMIM:603738 skos:exactMatch HGNC:1127 Unspecified basic transcription factor 3 pseudogene 12 +OMIM:603738 skos:exactMatch HGNC_symbol:BTF3P12 Unspecified basic transcription factor 3 pseudogene 12 +OMIM:615710 skos:exactMatch UMLS:C2748662 Unspecified mitchell-riley syndrome +OMIM:615710 skos:exactMatch ORPHA:293864 Unspecified mitchell-riley syndrome +OMIM:615711 skos:exactMatch UMLS:C3810349 Unspecified alzheimer disease 19 +OMIM:615712 skos:exactMatch UMLS:C1825233 Unspecified OTULIN +OMIM:615712 skos:exactMatch HGNC_symbol:OTULIN Unspecified OTULIN +OMIM:615712 skos:exactMatch HGNC:25118 Unspecified OTULIN +OMIM:615713 skos:exactMatch UMLS:C1418914 Unspecified ZMYND8 +OMIM:615713 skos:exactMatch HGNC_symbol:ZMYND8 Unspecified ZMYND8 +OMIM:615713 skos:exactMatch HGNC:9397 Unspecified ZMYND8 +OMIM:615714 skos:exactMatch HGNC:13924 Unspecified ZNRD1ASP +OMIM:615714 skos:exactMatch UMLS:C1422276 Unspecified ZNRD1ASP +OMIM:615714 skos:exactMatch HGNC_symbol:ZNRD1ASP Unspecified ZNRD1ASP +OMIM:615715 skos:exactMatch UMLS:C3810350 Unspecified bone marrow failure syndrome 2 +OMIM:146520 skos:exactMatch UMLS:C1840299 Unspecified hypotrichosis 2 +OMIM:278300 skos:exactMatch UMLS:C0268118 Unspecified xanthinuria, iia 1 +OMIM:615716 skos:exactMatch ORPHA:247262 Unspecified hyperphosphatasia with mental retardation syndrome 4 +OMIM:615716 skos:exactMatch UMLS:C3810354 Unspecified hyperphosphatasia with mental retardation syndrome 4 +OMIM:615717 skos:exactMatch HGNC_symbol:BPIFB3 Unspecified BPIFB3 +OMIM:615717 skos:exactMatch HGNC:16178 Unspecified BPIFB3 +OMIM:615717 skos:exactMatch UMLS:C3469649 Unspecified BPIFB3 +OMIM:615718 skos:exactMatch UMLS:C3469650 Unspecified BPIFB4 +OMIM:615718 skos:exactMatch HGNC_symbol:BPIFB4 Unspecified BPIFB4 +OMIM:615718 skos:exactMatch HGNC:16179 Unspecified BPIFB4 +OMIM:615719 skos:exactMatch HGNC_symbol:TUNAR Unspecified TUNAR +OMIM:615719 skos:exactMatch UMLS:C3541074 Unspecified TUNAR +OMIM:615719 skos:exactMatch HGNC:44088 Unspecified TUNAR +OMIM:603740 skos:exactMatch UMLS:C1863556 Unspecified acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia +OMIM:601145 skos:exactMatch HGNC_symbol:CSTB Unspecified CSTB +OMIM:601145 skos:exactMatch UMLS:C1332798 Unspecified CSTB +OMIM:601145 skos:exactMatch HGNC:2482 Unspecified CSTB +OMIM:601146 skos:exactMatch UMLS:C4759728 Unspecified GDF5 +OMIM:601146 skos:exactMatch UMLS:C2930970 Unspecified GDF5 +OMIM:601146 skos:exactMatch UMLS:C1862103 Unspecified GDF5 +OMIM:601146 skos:exactMatch UMLS:C1333666 Unspecified GDF5 +OMIM:601146 skos:exactMatch HGNC_symbol:GDF5 Unspecified GDF5 +OMIM:601146 skos:exactMatch UMLS:C0265260 Unspecified GDF5 +OMIM:601146 skos:exactMatch UMLS:C1832702 Unspecified GDF5 +OMIM:601146 skos:exactMatch UMLS:C1832708 Unspecified GDF5 +OMIM:601146 skos:exactMatch HGNC:4220 Unspecified GDF5 +OMIM:601146 skos:exactMatch UMLS:C1856738 Unspecified GDF5 +OMIM:601146 skos:exactMatch UMLS:C3554446 Unspecified GDF5 +OMIM:601146 skos:exactMatch UMLS:C3809104 Unspecified GDF5 +OMIM:601147 skos:exactMatch HGNC_symbol:GDF6 Unspecified GDF6 +OMIM:601147 skos:exactMatch HGNC:4221 Unspecified GDF6 +OMIM:601147 skos:exactMatch UMLS:C1415036 Unspecified GDF6 +OMIM:601148 skos:exactMatch UMLS:C1822783 Unspecified SMCP +OMIM:601148 skos:exactMatch HGNC_symbol:SMCP Unspecified SMCP +OMIM:601148 skos:exactMatch HGNC:6962 Unspecified SMCP +OMIM:601149 skos:exactMatch UMLS:C1415878 Unspecified IDH3A +OMIM:601149 skos:exactMatch HGNC_symbol:IDH3A Unspecified IDH3A +OMIM:601149 skos:exactMatch HGNC:5384 Unspecified IDH3A +OMIM:601149 skos:exactMatch UMLS:C5436588 Unspecified IDH3A +OMIM:615790 skos:exactMatch HGNC:25230 Unspecified AHDC1 +OMIM:615790 skos:exactMatch UMLS:C1826617 Unspecified AHDC1 +OMIM:615790 skos:exactMatch UMLS:C4014419 Unspecified AHDC1 +OMIM:615790 skos:exactMatch HGNC_symbol:AHDC1 Unspecified AHDC1 +OMIM:615791 skos:exactMatch HGNC_symbol:NUDT18 Unspecified NUDT18 +OMIM:615791 skos:exactMatch UMLS:C1826491 Unspecified NUDT18 +OMIM:615791 skos:exactMatch HGNC:26194 Unspecified NUDT18 +OMIM:613129 skos:exactMatch UMLS:C1824460 Unspecified CTC1 +OMIM:613129 skos:exactMatch UMLS:C4552029 Unspecified CTC1 +OMIM:613129 skos:exactMatch HGNC:26169 Unspecified CTC1 +OMIM:613129 skos:exactMatch HGNC_symbol:CTC1 Unspecified CTC1 +OMIM:613128 skos:exactMatch UMLS:C1428560 Unspecified STN1 +OMIM:613128 skos:exactMatch HGNC:26200 Unspecified STN1 +OMIM:613128 skos:exactMatch UMLS:C4479220 Unspecified STN1 +OMIM:613128 skos:exactMatch HGNC_symbol:STN1 Unspecified STN1 +OMIM:615792 skos:exactMatch HGNC_symbol:NUDT15 Unspecified NUDT15 +OMIM:615792 skos:exactMatch HGNC:23063 Unspecified NUDT15 +OMIM:615792 skos:exactMatch UMLS:C1427884 Unspecified NUDT15 +OMIM:613127 skos:exactMatch HGNC_symbol:CHRDL2 Unspecified CHRDL2 +OMIM:613127 skos:exactMatch HGNC:24168 Unspecified CHRDL2 +OMIM:613127 skos:exactMatch UMLS:C1428354 Unspecified CHRDL2 +OMIM:615793 skos:exactMatch HGNC_symbol:ISM1 Unspecified ISM1 +OMIM:615793 skos:exactMatch HGNC:16213 Unspecified ISM1 +OMIM:615793 skos:exactMatch UMLS:C1424090 Unspecified ISM1 +OMIM:613126 skos:exactMatch HGNC:24472 Unspecified PSRC1 +OMIM:613126 skos:exactMatch HGNC_symbol:PSRC1 Unspecified PSRC1 +OMIM:613126 skos:exactMatch UMLS:C1826730 Unspecified PSRC1 +OMIM:615794 skos:exactMatch UMLS:C1539524 Unspecified FNDC3A +OMIM:615794 skos:exactMatch HGNC_symbol:FNDC3A Unspecified FNDC3A +OMIM:615794 skos:exactMatch HGNC:20296 Unspecified FNDC3A +OMIM:613125 skos:exactMatch HGNC_symbol:NRIP3 Unspecified NRIP3 +OMIM:613125 skos:exactMatch UMLS:C1412866 Unspecified NRIP3 +OMIM:613125 skos:exactMatch HGNC:1167 Unspecified NRIP3 +OMIM:615795 skos:exactMatch HGNC_symbol:FSIP1 Unspecified FSIP1 +OMIM:615795 skos:exactMatch UMLS:C1539536 Unspecified FSIP1 +OMIM:615795 skos:exactMatch HGNC:21674 Unspecified FSIP1 +OMIM:615796 skos:exactMatch HGNC_symbol:FSIP2 Unspecified FSIP2 +OMIM:615796 skos:exactMatch UMLS:C1539537 Unspecified FSIP2 +OMIM:615796 skos:exactMatch HGNC:21675 Unspecified FSIP2 +OMIM:613124 skos:exactMatch UMLS:C5193233 Unspecified hydrops fetalis, nonimmune, with gracile bones and dysmorphism +OMIM:613134 skos:exactMatch HGNC_symbol:TSPAN3 Unspecified TSPAN3 +OMIM:613134 skos:exactMatch UMLS:C1540083 Unspecified TSPAN3 +OMIM:613134 skos:exactMatch HGNC:17752 Unspecified TSPAN3 +OMIM:615786 skos:exactMatch HGNC:23846 Unspecified NACC2 +OMIM:615786 skos:exactMatch UMLS:C1428294 Unspecified NACC2 +OMIM:615786 skos:exactMatch HGNC_symbol:NACC2 Unspecified NACC2 +OMIM:615787 skos:exactMatch UMLS:C3471268 Unspecified NADK2 +OMIM:615787 skos:exactMatch HGNC:26404 Unspecified NADK2 +OMIM:615787 skos:exactMatch UMLS:C1857252 Unspecified NADK2 +OMIM:615787 skos:exactMatch UMLS:C5394591 Unspecified NADK2 +OMIM:615787 skos:exactMatch HGNC_symbol:NADK2 Unspecified NADK2 +OMIM:613133 skos:exactMatch HGNC_symbol:TSPAN2 Unspecified TSPAN2 +OMIM:613133 skos:exactMatch UMLS:C1540082 Unspecified TSPAN2 +OMIM:613133 skos:exactMatch HGNC:20659 Unspecified TSPAN2 +OMIM:613132 skos:exactMatch HGNC:32794 Unspecified MIR449B +OMIM:613132 skos:exactMatch HGNC_symbol:MIR449B Unspecified MIR449B +OMIM:613132 skos:exactMatch UMLS:C1826028 Unspecified MIR449B +OMIM:230350 skos:exactMatch ORPHA:308473 Unspecified galactosemia 3 +OMIM:230350 skos:exactMatch ORPHA:308487 Unspecified galactosemia 3 +OMIM:230350 skos:exactMatch ORPHA:352 Unspecified galactosemia 3 +OMIM:230350 skos:exactMatch UMLS:C0751161 Unspecified galactosemia 3 +OMIM:230350 skos:exactMatch ORPHA:79238 Unspecified galactosemia 3 +OMIM:615788 skos:exactMatch UMLS:C2239769 Unspecified N4BP2L2 +OMIM:615788 skos:exactMatch HGNC:26916 Unspecified N4BP2L2 +OMIM:615788 skos:exactMatch HGNC_symbol:N4BP2L2 Unspecified N4BP2L2 +OMIM:613131 skos:exactMatch HGNC_symbol:MIR449A Unspecified MIR449A +OMIM:613131 skos:exactMatch HGNC:27645 Unspecified MIR449A +OMIM:613131 skos:exactMatch UMLS:C1826027 Unspecified MIR449A +OMIM:615789 skos:exactMatch UMLS:C4014339 Unspecified short stature with microcephaly and distinctive facies +OMIM:613130 skos:exactMatch HGNC:37242 Unspecified TEN1 +OMIM:613130 skos:exactMatch UMLS:C2751072 Unspecified TEN1 +OMIM:613130 skos:exactMatch HGNC_symbol:TEN1 Unspecified TEN1 +OMIM:601150 skos:exactMatch UMLS:C1413953 Unspecified DDX11 +OMIM:601150 skos:exactMatch UMLS:C3150658 Unspecified DDX11 +OMIM:601150 skos:exactMatch HGNC:2736 Unspecified DDX11 +OMIM:601150 skos:exactMatch HGNC_symbol:DDX11 Unspecified DDX11 +OMIM:601151 skos:exactMatch UMLS:C1413954 Unspecified dead/h-box helicase 12, pseudogene +OMIM:601151 skos:exactMatch HGNC:2737 Unspecified dead/h-box helicase 12, pseudogene +OMIM:601151 skos:exactMatch HGNC_symbol:DDX12P Unspecified dead/h-box helicase 12, pseudogene +OMIM:601152 skos:exactMatch UMLS:C0393807 Unspecified neuropathy, hereditary motor and sensory, iia via, with optic atrophy +OMIM:601153 skos:exactMatch UMLS:C0919457 Unspecified FHIT +OMIM:601153 skos:exactMatch HGNC_symbol:FHIT Unspecified FHIT +OMIM:601153 skos:exactMatch HGNC:3701 Unspecified FHIT +OMIM:601153 skos:exactMatch UMLS:C1414761 Unspecified FHIT +OMIM:601154 skos:exactMatch UMLS:C1832680 Unspecified cardiomyopathy, dilated, 1e +OMIM:601155 skos:exactMatch HGNC:17102 Unspecified HMHA1 +OMIM:601155 skos:exactMatch UMLS:C1825516 Unspecified HMHA1 +OMIM:601155 skos:exactMatch HGNC_symbol:ARHGAP45 Unspecified HMHA1 +OMIM:603797 skos:exactMatch HGNC_symbol:CHST1 Unspecified CHST1 +OMIM:603797 skos:exactMatch HGNC:1969 Unspecified CHST1 +OMIM:603797 skos:exactMatch UMLS:C1413414 Unspecified CHST1 +OMIM:601134 skos:exactMatch UMLS:C3810062 Unspecified STT3A +OMIM:601134 skos:exactMatch HGNC:6172 Unspecified STT3A +OMIM:601134 skos:exactMatch HGNC_symbol:STT3A Unspecified STT3A +OMIM:601134 skos:exactMatch UMLS:C1823138 Unspecified STT3A +OMIM:603796 skos:exactMatch HGNC:6242 Unspecified KCNE2 +OMIM:603796 skos:exactMatch UMLS:C1416565 Unspecified KCNE2 +OMIM:603796 skos:exactMatch HGNC_symbol:KCNE2 Unspecified KCNE2 +OMIM:601135 skos:exactMatch HGNC_symbol:GBX2 Unspecified GBX2 +OMIM:601135 skos:exactMatch HGNC:4186 Unspecified GBX2 +OMIM:601135 skos:exactMatch UMLS:C1415007 Unspecified GBX2 +OMIM:603799 skos:exactMatch HGNC_symbol:CHST3 Unspecified CHST3 +OMIM:603799 skos:exactMatch HGNC:1971 Unspecified CHST3 +OMIM:603799 skos:exactMatch UMLS:C1413416 Unspecified CHST3 +OMIM:601136 skos:exactMatch UMLS:C1832726 Unspecified transsuppressor of expression 2 +OMIM:603798 skos:exactMatch HGNC_symbol:CHST2 Unspecified CHST2 +OMIM:603798 skos:exactMatch HGNC:1970 Unspecified CHST2 +OMIM:603798 skos:exactMatch UMLS:C1413415 Unspecified CHST2 +OMIM:601138 skos:exactMatch HGNC_symbol:GUCY2EP Unspecified guanylate cyclase 2e, pseudogene +OMIM:601138 skos:exactMatch HGNC:4690 Unspecified guanylate cyclase 2e, pseudogene +OMIM:601138 skos:exactMatch UMLS:C3887944 Unspecified guanylate cyclase 2e, pseudogene +OMIM:266300 skos:exactMatch UMLS:C1849452 Unspecified skin/hair/eye pigmentation, variation in, 2 +OMIM:266300 skos:exactMatch UMLS:C2678403 Unspecified skin/hair/eye pigmentation, variation in, 2 +OMIM:601139 skos:exactMatch HGNC:12964 Unspecified ZNF175 +OMIM:601139 skos:exactMatch HGNC_symbol:ZNF175 Unspecified ZNF175 +OMIM:601139 skos:exactMatch UMLS:C1421663 Unspecified ZNF175 +OMIM:613119 skos:exactMatch UMLS:C2751089 Unspecified brugada syndrome 6 +OMIM:613118 skos:exactMatch UMLS:C0272375 Unspecified antithrombin 3 deficiency +OMIM:615780 skos:exactMatch UMLS:C4014312 Unspecified retinitis pigmentosa 69 +OMIM:615781 skos:exactMatch UMLS:C1425929 Unspecified AP1S3 +OMIM:615781 skos:exactMatch UMLS:C4015235 Unspecified AP1S3 +OMIM:615781 skos:exactMatch HGNC_symbol:AP1S3 Unspecified AP1S3 +OMIM:615781 skos:exactMatch HGNC:18971 Unspecified AP1S3 +OMIM:613117 skos:exactMatch UMLS:C1822955 Unspecified SNORD50A +OMIM:613117 skos:exactMatch HGNC:10200 Unspecified SNORD50A +OMIM:613117 skos:exactMatch HGNC_symbol:SNORD50A Unspecified SNORD50A +OMIM:613116 skos:exactMatch UMLS:C2751090 Unspecified thrombophilia due to histidine-rich glycoprotein deficiency +OMIM:613116 skos:exactMatch UMLS:C2751091 Unspecified thrombophilia due to histidine-rich glycoprotein deficiency +OMIM:615782 skos:exactMatch HGNC:25200 Unspecified CIART +OMIM:615782 skos:exactMatch HGNC_symbol:CIART Unspecified CIART +OMIM:615782 skos:exactMatch UMLS:C1538990 Unspecified CIART +OMIM:615783 skos:exactMatch HGNC_symbol:NAT16 Unspecified NAT16 +OMIM:615783 skos:exactMatch UMLS:C3471274 Unspecified NAT16 +OMIM:615783 skos:exactMatch HGNC:22030 Unspecified NAT16 +OMIM:613115 skos:exactMatch UMLS:C2751092 Unspecified neuropathy, hereditary sensory and autonomic, iia 2b +OMIM:615784 skos:exactMatch HGNC:4559 Unspecified GPX7 +OMIM:615784 skos:exactMatch UMLS:C1415281 Unspecified GPX7 +OMIM:615784 skos:exactMatch HGNC_symbol:GPX7 Unspecified GPX7 +OMIM:613114 skos:exactMatch UMLS:C2239425 Unspecified RETREG1 +OMIM:613114 skos:exactMatch HGNC_symbol:RETREG1 Unspecified RETREG1 +OMIM:613114 skos:exactMatch HGNC:25964 Unspecified RETREG1 +OMIM:613113 skos:exactMatch UMLS:C0349639 Unspecified NF1 +OMIM:613113 skos:exactMatch UMLS:C2931482 Unspecified NF1 +OMIM:613113 skos:exactMatch UMLS:C1834235 Unspecified NF1 +OMIM:613113 skos:exactMatch HGNC_symbol:NF1 Unspecified NF1 +OMIM:613113 skos:exactMatch HGNC:7765 Unspecified NF1 +OMIM:613113 skos:exactMatch UMLS:C0085113 Unspecified NF1 +OMIM:613113 skos:exactMatch UMLS:C0027831 Unspecified NF1 +OMIM:613113 skos:exactMatch UMLS:C4225458 Unspecified NF1 +OMIM:613113 skos:exactMatch UMLS:C0553586 Unspecified NF1 +OMIM:615785 skos:exactMatch ORPHA:171723 Unspecified white sponge nevus 2 +OMIM:615785 skos:exactMatch UMLS:C4014321 Unspecified white sponge nevus 2 +OMIM:615775 skos:exactMatch UMLS:C2681319 Unspecified SYCE3 +OMIM:615775 skos:exactMatch HGNC_symbol:SYCE3 Unspecified SYCE3 +OMIM:615775 skos:exactMatch HGNC:35245 Unspecified SYCE3 +OMIM:613123 skos:exactMatch UMLS:C2751083 Unspecified brugada syndrome 8 +OMIM:615776 skos:exactMatch UMLS:C1427476 Unspecified CROCC +OMIM:615776 skos:exactMatch HGNC_symbol:CROCC Unspecified CROCC +OMIM:615776 skos:exactMatch HGNC:21299 Unspecified CROCC +OMIM:613122 skos:exactMatch UMLS:C2751084 Unspecified cardiomyopathy, dilated, 1cc +OMIM:613121 skos:exactMatch HGNC_symbol:NEXN Unspecified NEXN +OMIM:613121 skos:exactMatch HGNC:29557 Unspecified NEXN +OMIM:613121 skos:exactMatch UMLS:C1428874 Unspecified NEXN +OMIM:615777 skos:exactMatch ORPHA:1425 Unspecified desbuquois dysplasia 2 +OMIM:615777 skos:exactMatch UMLS:C4014294 Unspecified desbuquois dysplasia 2 +OMIM:615778 skos:exactMatch UMLS:C1413464 Unspecified CLDN15 +OMIM:615778 skos:exactMatch HGNC_symbol:CLDN15 Unspecified CLDN15 +OMIM:615778 skos:exactMatch HGNC:2036 Unspecified CLDN15 +OMIM:613120 skos:exactMatch UMLS:C2751088 Unspecified brugada syndrome 7 +OMIM:613120 skos:exactMatch UMLS:C4013699 Unspecified brugada syndrome 7 +OMIM:615779 skos:exactMatch ORPHA:99068 Unspecified congenital heart defects, multiple types, 4 +OMIM:615779 skos:exactMatch ORPHA:99067 Unspecified congenital heart defects, multiple types, 4 +OMIM:615779 skos:exactMatch ORPHA:98722 Unspecified congenital heart defects, multiple types, 4 +OMIM:615779 skos:exactMatch UMLS:C4014310 Unspecified congenital heart defects, multiple types, 4 +OMIM:601140 skos:exactMatch UMLS:C1418632 Unspecified PPP1R14B +OMIM:601140 skos:exactMatch HGNC_symbol:PPP1R14B Unspecified PPP1R14B +OMIM:601140 skos:exactMatch HGNC:9057 Unspecified PPP1R14B +OMIM:601141 skos:exactMatch HGNC:6228 Unspecified KCNAB1 +OMIM:601141 skos:exactMatch UMLS:C1416551 Unspecified KCNAB1 +OMIM:601141 skos:exactMatch HGNC_symbol:KCNAB1 Unspecified KCNAB1 +OMIM:601142 skos:exactMatch HGNC:6229 Unspecified KCNAB2 +OMIM:601142 skos:exactMatch UMLS:C1416552 Unspecified KCNAB2 +OMIM:601142 skos:exactMatch HGNC_symbol:KCNAB2 Unspecified KCNAB2 +OMIM:601143 skos:exactMatch UMLS:C1413935 Unspecified DCTN1 +OMIM:601143 skos:exactMatch HGNC:2711 Unspecified DCTN1 +OMIM:601143 skos:exactMatch HGNC_symbol:DCTN1 Unspecified DCTN1 +OMIM:601144 skos:exactMatch UMLS:C4551804 Unspecified brugada syndrome 1 +OMIM:601144 skos:exactMatch UMLS:C2748542 Unspecified brugada syndrome 1 +OMIM:601144 skos:exactMatch UMLS:C1142166 Unspecified brugada syndrome 1 +OMIM:601123 skos:exactMatch HGNC_symbol:ST8SIA1 Unspecified ST8SIA1 +OMIM:601123 skos:exactMatch UMLS:C1539873 Unspecified ST8SIA1 +OMIM:601123 skos:exactMatch HGNC:10869 Unspecified ST8SIA1 +OMIM:603786 skos:exactMatch UMLS:C1863534 Unspecified stargardt disease 4 +OMIM:603786 skos:exactMatch ORPHA:827 Unspecified stargardt disease 4 +OMIM:603785 skos:exactMatch HGNC_symbol:MPDZ Unspecified MPDZ +OMIM:603785 skos:exactMatch HGNC:7208 Unspecified MPDZ +OMIM:603785 skos:exactMatch UMLS:C1417236 Unspecified MPDZ +OMIM:601124 skos:exactMatch HGNC_symbol:SEMA3F Unspecified SEMA3F +OMIM:601124 skos:exactMatch UMLS:C1419946 Unspecified SEMA3F +OMIM:601124 skos:exactMatch HGNC:10728 Unspecified SEMA3F +OMIM:134570 skos:exactMatch HGNC:3531 Unspecified F13A1 +OMIM:134570 skos:exactMatch HGNC_symbol:F13A1 Unspecified F13A1 +OMIM:134570 skos:exactMatch UMLS:C1414500 Unspecified F13A1 +OMIM:603788 skos:exactMatch UMLS:C1416569 Unspecified KCNG1 +OMIM:603788 skos:exactMatch HGNC_symbol:KCNG1 Unspecified KCNG1 +OMIM:603788 skos:exactMatch HGNC:6248 Unspecified KCNG1 +OMIM:601125 skos:exactMatch HGNC_symbol:HK2 Unspecified HK2 +OMIM:601125 skos:exactMatch UMLS:C1333898 Unspecified HK2 +OMIM:601125 skos:exactMatch HGNC:4923 Unspecified HK2 +OMIM:601126 skos:exactMatch UMLS:C1420778 Unspecified TMF1 +OMIM:601126 skos:exactMatch HGNC_symbol:TMF1 Unspecified TMF1 +OMIM:601126 skos:exactMatch HGNC:11870 Unspecified TMF1 +OMIM:603787 skos:exactMatch HGNC_symbol:KCNF1 Unspecified KCNF1 +OMIM:603787 skos:exactMatch HGNC:6246 Unspecified KCNF1 +OMIM:603787 skos:exactMatch UMLS:C1416568 Unspecified KCNF1 +OMIM:601127 skos:exactMatch UMLS:C1832735 Unspecified fallot complex with severe mental and growth retardation +OMIM:601128 skos:exactMatch HGNC:4764 Unspecified H3F3A +OMIM:601128 skos:exactMatch UMLS:C1415427 Unspecified H3F3A +OMIM:601128 skos:exactMatch HGNC_symbol:H3-3A Unspecified H3F3A +OMIM:601129 skos:exactMatch UMLS:C4693948 Unspecified CYP2C8 +OMIM:601129 skos:exactMatch UMLS:C4693987 Unspecified CYP2C8 +OMIM:601129 skos:exactMatch UMLS:C4693986 Unspecified CYP2C8 +OMIM:601129 skos:exactMatch HGNC:2622 Unspecified CYP2C8 +OMIM:601129 skos:exactMatch HGNC_symbol:CYP2C8 Unspecified CYP2C8 +OMIM:601129 skos:exactMatch UMLS:C1413873 Unspecified CYP2C8 +OMIM:613109 skos:exactMatch HGNC:4367 Unspecified GM2A +OMIM:613109 skos:exactMatch HGNC_symbol:GM2A Unspecified GM2A +OMIM:613109 skos:exactMatch UMLS:C1415127 Unspecified GM2A +OMIM:613108 skos:exactMatch UMLS:C0341024 Unspecified candidiasis, familial, 4 +OMIM:613107 skos:exactMatch UMLS:C2751288 Unspecified neutropenia, severe congenital, 2, autosomal dominant +OMIM:613107 skos:exactMatch ORPHA:486 Unspecified neutropenia, severe congenital, 2, autosomal dominant +OMIM:613106 skos:exactMatch UMLS:C2751289 Unspecified vertigo, benign recurrent, 2 +OMIM:615770 skos:exactMatch UMLS:C4014269 Unspecified atrial fibrillation, familial, 15 +OMIM:613105 skos:exactMatch UMLS:C2751290 Unspecified choroidal dystrophy, central areolar 2 +OMIM:615771 skos:exactMatch UMLS:C4014283 Unspecified cortical dysplasia, complex, with other brain malformations 6 +OMIM:613104 skos:exactMatch HGNC_symbol:CACFD1 Unspecified CACFD1 +OMIM:613104 skos:exactMatch HGNC:1365 Unspecified CACFD1 +OMIM:613104 skos:exactMatch UMLS:C1413035 Unspecified CACFD1 +OMIM:615772 skos:exactMatch UMLS:C3891272 Unspecified WFDC21P +OMIM:615772 skos:exactMatch HGNC_symbol:WFDC21P Unspecified WFDC21P +OMIM:615772 skos:exactMatch HGNC:50357 Unspecified WFDC21P +OMIM:615773 skos:exactMatch UMLS:C1427742 Unspecified SDHAF3 +OMIM:615773 skos:exactMatch HGNC_symbol:SDHAF3 Unspecified SDHAF3 +OMIM:615773 skos:exactMatch HGNC:21752 Unspecified SDHAF3 +OMIM:613103 skos:exactMatch UMLS:C1825702 Unspecified SRRM4 +OMIM:613103 skos:exactMatch HGNC:29389 Unspecified SRRM4 +OMIM:613103 skos:exactMatch HGNC_symbol:SRRM4 Unspecified SRRM4 +OMIM:613102 skos:exactMatch UMLS:C2751292 Unspecified hypotrichosis and recurrent skin vesicles +OMIM:615774 skos:exactMatch UMLS:C4014291 Unspecified oocyte maturation defect 1 +OMIM:615774 skos:exactMatch ORPHA:404466 Unspecified oocyte maturation defect 1 +OMIM:470000 skos:exactMatch UMLS:C1539689 Unspecified RPS4Y1 +OMIM:470000 skos:exactMatch HGNC:10425 Unspecified RPS4Y1 +OMIM:470000 skos:exactMatch HGNC_symbol:RPS4Y1 Unspecified RPS4Y1 +OMIM:146550 skos:exactMatch ORPHA:444 Unspecified hypotrichosis 4 +OMIM:146550 skos:exactMatch UMLS:C2750815 Unspecified hypotrichosis 4 +OMIM:613112 skos:exactMatch UMLS:C2751259 Unspecified macrothrombocytopenia, autosomal dominant, tubb1-related +OMIM:615764 skos:exactMatch UMLS:C3539331 Unspecified LSINCT5 +OMIM:615764 skos:exactMatch HGNC:37824 Unspecified LSINCT5 +OMIM:615764 skos:exactMatch HGNC_symbol:LSINCT5 Unspecified LSINCT5 +OMIM:613111 skos:exactMatch HGNC:9251 Unspecified CTSA +OMIM:613111 skos:exactMatch UMLS:C1824812 Unspecified CTSA +OMIM:613111 skos:exactMatch HGNC_symbol:CTSA Unspecified CTSA +OMIM:615765 skos:exactMatch HGNC_symbol:SLC16A11 Unspecified SLC16A11 +OMIM:615765 skos:exactMatch UMLS:C1427910 Unspecified SLC16A11 +OMIM:615765 skos:exactMatch HGNC:23093 Unspecified SLC16A11 +OMIM:613110 skos:exactMatch UMLS:C1412799 Unspecified BLCAP +OMIM:613110 skos:exactMatch HGNC_symbol:BLCAP Unspecified BLCAP +OMIM:613110 skos:exactMatch HGNC:1055 Unspecified BLCAP +OMIM:615766 skos:exactMatch HGNC:29121 Unspecified MTCL1 +OMIM:615766 skos:exactMatch HGNC_symbol:MTCL1 Unspecified MTCL1 +OMIM:615766 skos:exactMatch UMLS:C3810928 Unspecified MTCL1 +OMIM:254300 skos:exactMatch UMLS:C1850792 Unspecified myasthenic syndrome, congenital, 10 +OMIM:615767 skos:exactMatch UMLS:C4014258 Unspecified immunodeficiency, common variable, 11 +OMIM:615768 skos:exactMatch ORPHA:412057 Unspecified spinocerebellar ataxia, autosomal recessive 16 +OMIM:615768 skos:exactMatch UMLS:C4014261 Unspecified spinocerebellar ataxia, autosomal recessive 16 +OMIM:615769 skos:exactMatch HGNC:29138 Unspecified FAM169A +OMIM:615769 skos:exactMatch UMLS:C2681498 Unspecified FAM169A +OMIM:615769 skos:exactMatch HGNC_symbol:FAM169A Unspecified FAM169A +OMIM:603791 skos:exactMatch HGNC_symbol:SLC23A2 Unspecified SLC23A2 +OMIM:603791 skos:exactMatch UMLS:C1420144 Unspecified SLC23A2 +OMIM:603791 skos:exactMatch HGNC:10973 Unspecified SLC23A2 +OMIM:603790 skos:exactMatch HGNC_symbol:SLC23A1 Unspecified SLC23A1 +OMIM:603790 skos:exactMatch UMLS:C1420145 Unspecified SLC23A1 +OMIM:603790 skos:exactMatch HGNC:10974 Unspecified SLC23A1 +OMIM:601130 skos:exactMatch UMLS:C1332829 Unspecified CYP2C9 +OMIM:601130 skos:exactMatch HGNC:2623 Unspecified CYP2C9 +OMIM:601130 skos:exactMatch HGNC_symbol:CYP2C9 Unspecified CYP2C9 +OMIM:601131 skos:exactMatch UMLS:C1378702 Unspecified CYP2C18 +OMIM:601131 skos:exactMatch HGNC_symbol:CYP2C18 Unspecified CYP2C18 +OMIM:601131 skos:exactMatch HGNC:2620 Unspecified CYP2C18 +OMIM:603795 skos:exactMatch HGNC:16841 Unspecified LITAF +OMIM:603795 skos:exactMatch UMLS:C1424587 Unspecified LITAF +OMIM:603795 skos:exactMatch UMLS:C0270913 Unspecified LITAF +OMIM:603795 skos:exactMatch HGNC_symbol:LITAF Unspecified LITAF +OMIM:601132 skos:exactMatch HGNC:6465 Unspecified KSR1 +OMIM:601132 skos:exactMatch HGNC_symbol:KSR1 Unspecified KSR1 +OMIM:601132 skos:exactMatch UMLS:C1825781 Unspecified KSR1 +OMIM:603794 skos:exactMatch UMLS:C1863533 Unspecified hydroa vacciniforme, familial +OMIM:601133 skos:exactMatch UMLS:C1413879 Unspecified CYP2G1P +OMIM:601133 skos:exactMatch HGNC_symbol:CYP2G1P Unspecified CYP2G1P +OMIM:601133 skos:exactMatch HGNC:2633 Unspecified CYP2G1P +OMIM:603775 skos:exactMatch HGNC:1590 Unspecified CCNE2 +OMIM:603775 skos:exactMatch HGNC_symbol:CCNE2 Unspecified CCNE2 +OMIM:603775 skos:exactMatch UMLS:C1332698 Unspecified CCNE2 +OMIM:601112 skos:exactMatch HGNC_symbol:TXNRD1 Unspecified TXNRD1 +OMIM:601112 skos:exactMatch HGNC:12437 Unspecified TXNRD1 +OMIM:601112 skos:exactMatch UMLS:C1421248 Unspecified TXNRD1 +OMIM:601113 skos:exactMatch UMLS:C1415760 Unspecified HSPA4 +OMIM:601113 skos:exactMatch HGNC_symbol:HSPA4 Unspecified HSPA4 +OMIM:601113 skos:exactMatch HGNC:5237 Unspecified HSPA4 +OMIM:603774 skos:exactMatch UMLS:C1413659 Unspecified COX7C +OMIM:603774 skos:exactMatch HGNC_symbol:COX7C Unspecified COX7C +OMIM:603774 skos:exactMatch HGNC:2292 Unspecified COX7C +OMIM:603777 skos:exactMatch HGNC_symbol:CER1 Unspecified CER1 +OMIM:603777 skos:exactMatch HGNC:1862 Unspecified CER1 +OMIM:603777 skos:exactMatch UMLS:C1413346 Unspecified CER1 +OMIM:601114 skos:exactMatch HGNC_symbol:MPP3 Unspecified MPP3 +OMIM:601114 skos:exactMatch HGNC:7221 Unspecified MPP3 +OMIM:601114 skos:exactMatch UMLS:C1334527 Unspecified MPP3 +OMIM:134580 skos:exactMatch HGNC:3534 Unspecified F13B +OMIM:134580 skos:exactMatch HGNC_symbol:F13B Unspecified F13B +OMIM:134580 skos:exactMatch UMLS:C1414503 Unspecified F13B +OMIM:601115 skos:exactMatch UMLS:C1415307 Unspecified GRM3 +OMIM:601115 skos:exactMatch HGNC_symbol:GRM3 Unspecified GRM3 +OMIM:601115 skos:exactMatch HGNC:4595 Unspecified GRM3 +OMIM:603776 skos:exactMatch UMLS:C3276239 Unspecified hypercholesterolemia, familial, 3 +OMIM:603776 skos:exactMatch UMLS:C1863551 Unspecified hypercholesterolemia, familial, 3 +OMIM:603779 skos:exactMatch UMLS:C4015968 Unspecified SNCAIP +OMIM:603779 skos:exactMatch UMLS:C1420277 Unspecified SNCAIP +OMIM:603779 skos:exactMatch HGNC_symbol:SNCAIP Unspecified SNCAIP +OMIM:603779 skos:exactMatch HGNC:11139 Unspecified SNCAIP +OMIM:601116 skos:exactMatch HGNC:4600 Unspecified GRM8 +OMIM:601116 skos:exactMatch UMLS:C1415310 Unspecified GRM8 +OMIM:601116 skos:exactMatch HGNC_symbol:GRM8 Unspecified GRM8 +OMIM:601117 skos:exactMatch HGNC:11793 Unspecified THOP1 +OMIM:601117 skos:exactMatch UMLS:C1420726 Unspecified THOP1 +OMIM:601117 skos:exactMatch HGNC_symbol:THOP1 Unspecified THOP1 +OMIM:603778 skos:exactMatch HGNC_symbol:CDYL Unspecified CDYL +OMIM:603778 skos:exactMatch UMLS:C1413305 Unspecified CDYL +OMIM:603778 skos:exactMatch HGNC:1811 Unspecified CDYL +OMIM:601118 skos:exactMatch HGNC_symbol:CAMLG Unspecified CAMLG +OMIM:601118 skos:exactMatch HGNC:1471 Unspecified CAMLG +OMIM:601118 skos:exactMatch UMLS:C1332660 Unspecified CAMLG +OMIM:601119 skos:exactMatch HGNC:2084 Unspecified CLPP +OMIM:601119 skos:exactMatch UMLS:C1413504 Unspecified CLPP +OMIM:601119 skos:exactMatch HGNC_symbol:CLPP Unspecified CLPP +OMIM:615760 skos:exactMatch UMLS:C4014239 Unspecified microcephaly, progressive, with seizures and cerebral and cerebellar atrophy +OMIM:615761 skos:exactMatch UMLS:C3810406 Unspecified intellectual developmental disorder, autosomal dominant 23 +OMIM:615762 skos:exactMatch HGNC_symbol:GRXCR2 Unspecified GRXCR2 +OMIM:615762 skos:exactMatch HGNC:33862 Unspecified GRXCR2 +OMIM:615762 skos:exactMatch UMLS:C2681556 Unspecified GRXCR2 +OMIM:615763 skos:exactMatch UMLS:C3810407 Unspecified cortical dysplasia, complex, with other brain malformations 5 +OMIM:613101 skos:exactMatch ORPHA:540 Unspecified hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease +OMIM:613101 skos:exactMatch UMLS:C2751293 Unspecified hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease +OMIM:615753 skos:exactMatch UMLS:C1426345 Unspecified POM121 +OMIM:615753 skos:exactMatch HGNC_symbol:POM121 Unspecified POM121 +OMIM:615753 skos:exactMatch HGNC:19702 Unspecified POM121 +OMIM:615754 skos:exactMatch UMLS:C2239832 Unspecified POM121C +OMIM:615754 skos:exactMatch HGNC_symbol:POM121C Unspecified POM121C +OMIM:615754 skos:exactMatch HGNC:34005 Unspecified POM121C +OMIM:613100 skos:exactMatch UMLS:C2751294 Unspecified glaucoma 1, open angle, o +OMIM:615755 skos:exactMatch HGNC:29980 Unspecified FOXR1 +OMIM:615755 skos:exactMatch HGNC_symbol:FOXR1 Unspecified FOXR1 +OMIM:615755 skos:exactMatch UMLS:C1539528 Unspecified FOXR1 +OMIM:615756 skos:exactMatch HGNC_symbol:SECISBP2L Unspecified SECISBP2L +OMIM:615756 skos:exactMatch HGNC:28997 Unspecified SECISBP2L +OMIM:615756 skos:exactMatch UMLS:C2680370 Unspecified SECISBP2L +OMIM:615757 skos:exactMatch HGNC_symbol:KIZ Unspecified KIZ +OMIM:615757 skos:exactMatch HGNC:15865 Unspecified KIZ +OMIM:615757 skos:exactMatch UMLS:C1423787 Unspecified KIZ +OMIM:171500 skos:exactMatch UMLS:C4016317 Unspecified ACP1 +OMIM:171500 skos:exactMatch HGNC:122 Unspecified ACP1 +OMIM:171500 skos:exactMatch HGNC_symbol:ACP1 Unspecified ACP1 +OMIM:171500 skos:exactMatch UMLS:C1412131 Unspecified ACP1 +OMIM:615758 skos:exactMatch UMLS:C4014233 Unspecified immunodeficiency 22 +OMIM:615759 skos:exactMatch HGNC:29508 Unspecified KIDINS220 +OMIM:615759 skos:exactMatch HGNC_symbol:KIDINS220 Unspecified KIDINS220 +OMIM:615759 skos:exactMatch UMLS:C2681631 Unspecified KIDINS220 +OMIM:603780 skos:exactMatch HGNC:9949 Unspecified RECQL4 +OMIM:603780 skos:exactMatch HGNC_symbol:RECQL4 Unspecified RECQL4 +OMIM:603780 skos:exactMatch UMLS:C1335607 Unspecified RECQL4 +OMIM:603782 skos:exactMatch HGNC:10631 Unspecified CCL4L1 +OMIM:603782 skos:exactMatch HGNC_symbol:CCL4L1 Unspecified CCL4L1 +OMIM:603782 skos:exactMatch UMLS:C1824662 Unspecified CCL4L1 +OMIM:601120 skos:exactMatch HGNC_symbol:CDH5 Unspecified CDH5 +OMIM:601120 skos:exactMatch HGNC:1764 Unspecified CDH5 +OMIM:601120 skos:exactMatch UMLS:C1332729 Unspecified CDH5 +OMIM:603781 skos:exactMatch HGNC:9950 Unspecified RECQL5 +OMIM:603781 skos:exactMatch HGNC_symbol:RECQL5 Unspecified RECQL5 +OMIM:603781 skos:exactMatch UMLS:C1335608 Unspecified RECQL5 +OMIM:603784 skos:exactMatch HGNC_symbol:PTTG1IP Unspecified PTTG1IP +OMIM:603784 skos:exactMatch HGNC:13524 Unspecified PTTG1IP +OMIM:603784 skos:exactMatch UMLS:C1422035 Unspecified PTTG1IP +OMIM:601121 skos:exactMatch UMLS:C1335207 Unspecified PGF +OMIM:601121 skos:exactMatch HGNC:8893 Unspecified PGF +OMIM:601121 skos:exactMatch HGNC_symbol:PGF Unspecified PGF +OMIM:603783 skos:exactMatch UMLS:C2751900 Unspecified intelligence quantitative trait locus 1 +OMIM:603783 skos:exactMatch UMLS:C1863535 Unspecified intelligence quantitative trait locus 1 +OMIM:601122 skos:exactMatch UMLS:C1415810 Unspecified HTR2B +OMIM:601122 skos:exactMatch HGNC_symbol:HTR2B Unspecified HTR2B +OMIM:601122 skos:exactMatch HGNC:5294 Unspecified HTR2B +OMIM:601189 skos:exactMatch UMLS:C1418750 Unspecified POLR2L +OMIM:601189 skos:exactMatch HGNC:9199 Unspecified POLR2L +OMIM:601189 skos:exactMatch HGNC_symbol:POLR2L Unspecified POLR2L +OMIM:242300 skos:exactMatch UMLS:C1855789 Unspecified ichthyosis, congenital, autosomal recessive 1 +OMIM:242300 skos:exactMatch UMLS:C3536797 Unspecified ichthyosis, congenital, autosomal recessive 1 +OMIM:242300 skos:exactMatch UMLS:C4551630 Unspecified ichthyosis, congenital, autosomal recessive 1 +OMIM:146580 skos:exactMatch UMLS:C1840297 Unspecified hypoxanthine guanine phosphoribosyltransferase suppressor +OMIM:613169 skos:exactMatch HGNC_symbol:KLHDC8B Unspecified KLHDC8B +OMIM:613169 skos:exactMatch UMLS:C1825723 Unspecified KLHDC8B +OMIM:613169 skos:exactMatch HGNC:28557 Unspecified KLHDC8B +OMIM:613168 skos:exactMatch UMLS:C1418648 Unspecified SERPINF2 +OMIM:613168 skos:exactMatch HGNC_symbol:SERPINF2 Unspecified SERPINF2 +OMIM:613168 skos:exactMatch HGNC:9075 Unspecified SERPINF2 +OMIM:613178 skos:exactMatch HGNC:23925 Unspecified CTIF +OMIM:613178 skos:exactMatch UMLS:C1428332 Unspecified CTIF +OMIM:613178 skos:exactMatch HGNC_symbol:CTIF Unspecified CTIF +OMIM:613177 skos:exactMatch UMLS:C2750804 Unspecified cutis laxa, autosomal recessive, iia 1c +OMIM:613176 skos:exactMatch UMLS:C2240325 Unspecified SMG9 +OMIM:613176 skos:exactMatch HGNC_symbol:SMG9 Unspecified SMG9 +OMIM:613176 skos:exactMatch HGNC:25763 Unspecified SMG9 +OMIM:613175 skos:exactMatch UMLS:C1824463 Unspecified SMG8 +OMIM:613175 skos:exactMatch HGNC_symbol:SMG8 Unspecified SMG8 +OMIM:613175 skos:exactMatch HGNC:25551 Unspecified SMG8 +OMIM:613174 skos:exactMatch UMLS:C2750805 Unspecified chromosome 5p13 duplication syndrome +OMIM:613173 skos:exactMatch HGNC:17302 Unspecified NEGR1 +OMIM:613173 skos:exactMatch UMLS:C1424887 Unspecified NEGR1 +OMIM:613173 skos:exactMatch HGNC_symbol:NEGR1 Unspecified NEGR1 +OMIM:613172 skos:exactMatch UMLS:C2750995 Unspecified cardiomyopathy, dilated, 1dd +OMIM:601190 skos:exactMatch UMLS:C3552227 Unspecified PDE6H +OMIM:601190 skos:exactMatch HGNC_symbol:PDE6H Unspecified PDE6H +OMIM:601190 skos:exactMatch HGNC:8790 Unspecified PDE6H +OMIM:601190 skos:exactMatch UMLS:C1864900 Unspecified PDE6H +OMIM:601190 skos:exactMatch UMLS:C1418430 Unspecified PDE6H +OMIM:613171 skos:exactMatch UMLS:C1428654 Unspecified RBM20 +OMIM:613171 skos:exactMatch HGNC:27424 Unspecified RBM20 +OMIM:613171 skos:exactMatch HGNC_symbol:RBM20 Unspecified RBM20 +OMIM:601191 skos:exactMatch HGNC:3447 Unspecified ERH +OMIM:601191 skos:exactMatch HGNC_symbol:ERH Unspecified ERH +OMIM:601191 skos:exactMatch UMLS:C1414443 Unspecified ERH +OMIM:613170 skos:exactMatch UMLS:C1540081 Unspecified TSPAN1 +OMIM:613170 skos:exactMatch HGNC:20657 Unspecified TSPAN1 +OMIM:613170 skos:exactMatch HGNC_symbol:TSPAN1 Unspecified TSPAN1 +OMIM:601192 skos:exactMatch HGNC_symbol:PLA2G5 Unspecified PLA2G5 +OMIM:601192 skos:exactMatch HGNC:9038 Unspecified PLA2G5 +OMIM:601192 skos:exactMatch UMLS:C1418623 Unspecified PLA2G5 +OMIM:601193 skos:exactMatch HGNC:304 Unspecified CRISP1 +OMIM:601193 skos:exactMatch UMLS:C1412267 Unspecified CRISP1 +OMIM:601193 skos:exactMatch HGNC_symbol:CRISP1 Unspecified CRISP1 +OMIM:601194 skos:exactMatch HGNC:11847 Unspecified TLR1 +OMIM:601194 skos:exactMatch UMLS:C1366477 Unspecified TLR1 +OMIM:601194 skos:exactMatch HGNC_symbol:TLR1 Unspecified TLR1 +OMIM:601195 skos:exactMatch UMLS:C0268063 Unspecified iron overload 1n africa +OMIM:601196 skos:exactMatch UMLS:C1418875 Unspecified PRDM2 +OMIM:601196 skos:exactMatch HGNC:9347 Unspecified PRDM2 +OMIM:601196 skos:exactMatch HGNC_symbol:PRDM2 Unspecified PRDM2 +OMIM:601197 skos:exactMatch UMLS:C1421225 Unspecified TUB +OMIM:601197 skos:exactMatch HGNC_symbol:TUB Unspecified TUB +OMIM:601197 skos:exactMatch HGNC:12406 Unspecified TUB +OMIM:601198 skos:exactMatch ORPHA:428 Unspecified hypocalcemia, autosomal dominant 1 +OMIM:601198 skos:exactMatch UMLS:C4048195 Unspecified hypocalcemia, autosomal dominant 1 +OMIM:601198 skos:exactMatch UMLS:C3715128 Unspecified hypocalcemia, autosomal dominant 1 +OMIM:601198 skos:exactMatch ORPHA:2238 Unspecified hypocalcemia, autosomal dominant 1 +OMIM:601198 skos:exactMatch ORPHA:112 Unspecified hypocalcemia, autosomal dominant 1 +OMIM:601199 skos:exactMatch HGNC_symbol:CASR Unspecified CASR +OMIM:601199 skos:exactMatch HGNC:1514 Unspecified CASR +OMIM:601199 skos:exactMatch UMLS:C1413136 Unspecified CASR +OMIM:601178 skos:exactMatch HGNC:6743 Unspecified CAPRIN1 +OMIM:601178 skos:exactMatch HGNC_symbol:CAPRIN1 Unspecified CAPRIN1 +OMIM:601178 skos:exactMatch UMLS:C1825397 Unspecified CAPRIN1 +OMIM:601179 skos:exactMatch HGNC_symbol:RAN Unspecified RAN +OMIM:601179 skos:exactMatch UMLS:C1419257 Unspecified RAN +OMIM:601179 skos:exactMatch HGNC:9846 Unspecified RAN +OMIM:146590 skos:exactMatch UMLS:C1840296 Unspecified ichthyosis hystrix, curth-macklin iia +OMIM:613159 skos:exactMatch UMLS:C3150419 Unspecified nephronophthisis-like nephropathy 1 +OMIM:613158 skos:exactMatch UMLS:C3150418 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 +OMIM:613158 skos:exactMatch ORPHA:206559 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 +OMIM:613157 skos:exactMatch UMLS:C3150417 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 +OMIM:613157 skos:exactMatch ORPHA:206564 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 +OMIM:613167 skos:exactMatch UMLS:C1539221 Unspecified DCLK3 +OMIM:613167 skos:exactMatch HGNC:19005 Unspecified DCLK3 +OMIM:613167 skos:exactMatch HGNC_symbol:DCLK3 Unspecified DCLK3 +OMIM:613166 skos:exactMatch HGNC:19002 Unspecified DCLK2 +OMIM:613166 skos:exactMatch HGNC_symbol:DCLK2 Unspecified DCLK2 +OMIM:613166 skos:exactMatch UMLS:C1539220 Unspecified DCLK2 +OMIM:613165 skos:exactMatch UMLS:C1538435 Unspecified CANT1 +OMIM:613165 skos:exactMatch HGNC:19721 Unspecified CANT1 +OMIM:613165 skos:exactMatch HGNC_symbol:CANT1 Unspecified CANT1 +OMIM:613165 skos:exactMatch UMLS:C4012146 Unspecified CANT1 +OMIM:613165 skos:exactMatch UMLS:C4540251 Unspecified CANT1 +OMIM:613165 skos:exactMatch UMLS:C4017299 Unspecified CANT1 +OMIM:613164 skos:exactMatch UMLS:C2751012 Unspecified parkinson disease 16 +OMIM:613163 skos:exactMatch UMLS:C0342708 Unspecified gaba-transaminase deficiency +OMIM:613162 skos:exactMatch UMLS:C3888209 Unspecified spastic paraplegia 45, autosomal recessive +OMIM:613161 skos:exactMatch UMLS:C1291512 Unspecified beta-ureidopropionase deficiency +OMIM:613160 skos:exactMatch UMLS:C1336938 Unspecified VWF +OMIM:613160 skos:exactMatch HGNC_symbol:VWF Unspecified VWF +OMIM:613160 skos:exactMatch HGNC:12726 Unspecified VWF +OMIM:601180 skos:exactMatch HGNC:9847 Unspecified RANBP1 +OMIM:601180 skos:exactMatch HGNC_symbol:RANBP1 Unspecified RANBP1 +OMIM:601180 skos:exactMatch UMLS:C1419258 Unspecified RANBP1 +OMIM:601181 skos:exactMatch HGNC:9848 Unspecified RANBP2 +OMIM:601181 skos:exactMatch HGNC_symbol:RANBP2 Unspecified RANBP2 +OMIM:601181 skos:exactMatch UMLS:C1419259 Unspecified RANBP2 +OMIM:601182 skos:exactMatch HGNC_symbol:ORC2 Unspecified ORC2 +OMIM:601182 skos:exactMatch UMLS:C1335084 Unspecified ORC2 +OMIM:601182 skos:exactMatch HGNC:8488 Unspecified ORC2 +OMIM:601183 skos:exactMatch HGNC_symbol:CRIP2 Unspecified CRIP2 +OMIM:601183 skos:exactMatch HGNC:2361 Unspecified CRIP2 +OMIM:601183 skos:exactMatch UMLS:C1456379 Unspecified CRIP2 +OMIM:601184 skos:exactMatch UMLS:C1418932 Unspecified DNAJC3 +OMIM:601184 skos:exactMatch HGNC:9439 Unspecified DNAJC3 +OMIM:601184 skos:exactMatch HGNC_symbol:DNAJC3 Unspecified DNAJC3 +OMIM:601185 skos:exactMatch HGNC_symbol:STC1 Unspecified STC1 +OMIM:601185 skos:exactMatch HGNC:11373 Unspecified STC1 +OMIM:601185 skos:exactMatch UMLS:C1364160 Unspecified STC1 +OMIM:601186 skos:exactMatch UMLS:C1832661 Unspecified microphthalmia, syndromic 9 +OMIM:601186 skos:exactMatch UMLS:C3540845 Unspecified microphthalmia, syndromic 9 +OMIM:601187 skos:exactMatch UMLS:C0796046 Unspecified gurrieri syndrome +OMIM:601188 skos:exactMatch UMLS:C1832660 Unspecified suppression of tumorigenicity 12 +OMIM:230300 skos:exactMatch UMLS:C3665358 Unspecified galactorrhea +OMIM:601167 skos:exactMatch UMLS:C1418217 Unspecified P2RY1 +OMIM:601167 skos:exactMatch HGNC_symbol:P2RY1 Unspecified P2RY1 +OMIM:601167 skos:exactMatch HGNC:8539 Unspecified P2RY1 +OMIM:601168 skos:exactMatch HGNC_symbol:DPYSL3 Unspecified DPYSL3 +OMIM:601168 skos:exactMatch HGNC:3015 Unspecified DPYSL3 +OMIM:601168 skos:exactMatch UMLS:C1414146 Unspecified DPYSL3 +OMIM:301300 skos:exactMatch UMLS:C1412331 Unspecified ALAS2 +OMIM:301300 skos:exactMatch HGNC_symbol:ALAS2 Unspecified ALAS2 +OMIM:301300 skos:exactMatch HGNC:397 Unspecified ALAS2 +OMIM:183500 skos:exactMatch UMLS:C1866742 Unspecified split-hand and split-foot with hypodontia +OMIM:613149 skos:exactMatch HGNC_symbol:CDKN2B-AS1 Unspecified CDKN2BAS +OMIM:613149 skos:exactMatch UMLS:C2681352 Unspecified CDKN2BAS +OMIM:613149 skos:exactMatch HGNC:34341 Unspecified CDKN2BAS +OMIM:613148 skos:exactMatch UMLS:C2751053 Unspecified inflammatory bowel disease 28, autosomal recessive +OMIM:613147 skos:exactMatch HGNC:31583 Unspecified MIR205 +OMIM:613147 skos:exactMatch HGNC_symbol:MIR205 Unspecified MIR205 +OMIM:613147 skos:exactMatch UMLS:C1537843 Unspecified MIR205 +OMIM:613146 skos:exactMatch HGNC:31555 Unspecified MIR184 +OMIM:613146 skos:exactMatch HGNC_symbol:MIR184 Unspecified MIR184 +OMIM:613146 skos:exactMatch UMLS:C1537818 Unspecified MIR184 +OMIM:613156 skos:exactMatch UMLS:C3150416 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 +OMIM:613156 skos:exactMatch ORPHA:370959 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 +OMIM:613156 skos:exactMatch ORPHA:370968 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 +OMIM:613155 skos:exactMatch UMLS:C3150415 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual impairment), iia b, 1 +OMIM:613155 skos:exactMatch ORPHA:370959 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual impairment), iia b, 1 +OMIM:613155 skos:exactMatch ORPHA:370968 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual impairment), iia b, 1 +OMIM:613154 skos:exactMatch ORPHA:588 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 +OMIM:613154 skos:exactMatch ORPHA:899 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 +OMIM:613154 skos:exactMatch UMLS:C3150414 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 +OMIM:613153 skos:exactMatch ORPHA:588 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 +OMIM:613153 skos:exactMatch ORPHA:899 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 +OMIM:613153 skos:exactMatch UMLS:C3150413 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 +OMIM:613152 skos:exactMatch UMLS:C2751052 Unspecified muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 +OMIM:613152 skos:exactMatch ORPHA:370980 Unspecified muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 +OMIM:613151 skos:exactMatch UMLS:C3150412 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 +OMIM:613151 skos:exactMatch ORPHA:370959 Unspecified muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 +OMIM:613150 skos:exactMatch ORPHA:588 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 +OMIM:613150 skos:exactMatch UMLS:C3150411 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 +OMIM:613150 skos:exactMatch ORPHA:899 Unspecified muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2 +OMIM:601170 skos:exactMatch UMLS:C1832665 Unspecified muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers +OMIM:601172 skos:exactMatch UMLS:C1332797 Unspecified CSPG4 +OMIM:601172 skos:exactMatch HGNC_symbol:CSPG4 Unspecified CSPG4 +OMIM:601172 skos:exactMatch HGNC:2466 Unspecified CSPG4 +OMIM:158590 skos:exactMatch UMLS:C1834692 Unspecified neuronopathy, distal hereditary motor, iia 2a +OMIM:601175 skos:exactMatch HGNC_symbol:ARL2 Unspecified ARL2 +OMIM:601175 skos:exactMatch UMLS:C5436769 Unspecified ARL2 +OMIM:601175 skos:exactMatch HGNC:693 Unspecified ARL2 +OMIM:601175 skos:exactMatch UMLS:C1412537 Unspecified ARL2 +OMIM:601176 skos:exactMatch HGNC_symbol:GCLM Unspecified GCLM +OMIM:601176 skos:exactMatch HGNC:4312 Unspecified GCLM +OMIM:601176 skos:exactMatch UMLS:C1415098 Unspecified GCLM +OMIM:601177 skos:exactMatch HGNC_symbol:ARF4 Unspecified ARF4 +OMIM:601177 skos:exactMatch HGNC:655 Unspecified ARF4 +OMIM:601177 skos:exactMatch UMLS:C1412507 Unspecified ARF4 +OMIM:601156 skos:exactMatch HGNC_symbol:CCL11 Unspecified CCL11 +OMIM:601156 skos:exactMatch UMLS:C1332676 Unspecified CCL11 +OMIM:601156 skos:exactMatch HGNC:10610 Unspecified CCL11 +OMIM:601157 skos:exactMatch UMLS:C1413975 Unspecified DEFA4 +OMIM:601157 skos:exactMatch HGNC_symbol:DEFA4 Unspecified DEFA4 +OMIM:601157 skos:exactMatch HGNC:2763 Unspecified DEFA4 +OMIM:601158 skos:exactMatch HGNC:6881 Unspecified MAPK8 +OMIM:601158 skos:exactMatch HGNC_symbol:MAPK8 Unspecified MAPK8 +OMIM:601158 skos:exactMatch UMLS:C1367731 Unspecified MAPK8 +OMIM:301310 skos:exactMatch UMLS:C1845028 Unspecified anemia, sideroblastic, and spinocerebellar ataxia +OMIM:601159 skos:exactMatch HGNC:1602 Unspecified CCR1 +OMIM:601159 skos:exactMatch UMLS:C1332699 Unspecified CCR1 +OMIM:601159 skos:exactMatch HGNC_symbol:CCR1 Unspecified CCR1 +OMIM:613139 skos:exactMatch HGNC_symbol:TSPAN13 Unspecified TSPAN13 +OMIM:613139 skos:exactMatch UMLS:C1540093 Unspecified TSPAN13 +OMIM:613139 skos:exactMatch HGNC:21643 Unspecified TSPAN13 +OMIM:613138 skos:exactMatch HGNC_symbol:TSPAN12 Unspecified TSPAN12 +OMIM:613138 skos:exactMatch UMLS:C1540092 Unspecified TSPAN12 +OMIM:613138 skos:exactMatch HGNC:21641 Unspecified TSPAN12 +OMIM:613137 skos:exactMatch HGNC_symbol:TSPAN9 Unspecified TSPAN9 +OMIM:613137 skos:exactMatch UMLS:C1540089 Unspecified TSPAN9 +OMIM:613137 skos:exactMatch HGNC:21640 Unspecified TSPAN9 +OMIM:268900 skos:exactMatch UMLS:C0268563 Unspecified sarcosinemia +OMIM:613136 skos:exactMatch HGNC_symbol:TSPAN5 Unspecified TSPAN5 +OMIM:613136 skos:exactMatch UMLS:C1540085 Unspecified TSPAN5 +OMIM:613136 skos:exactMatch HGNC:17753 Unspecified TSPAN5 +OMIM:613135 skos:exactMatch UMLS:C2751067 Unspecified parkinsonism-dystonia 1, infantile-onset +OMIM:613135 skos:exactMatch UMLS:C4747621 Unspecified parkinsonism-dystonia 1, infantile-onset +OMIM:613145 skos:exactMatch UMLS:C2751054 Unspecified systemic lupus erythematosus, susceptibility to, 14 +OMIM:615797 skos:exactMatch HGNC_symbol:HCG9 Unspecified HCG9 +OMIM:615797 skos:exactMatch HGNC:21243 Unspecified HCG9 +OMIM:615797 skos:exactMatch UMLS:C1427447 Unspecified HCG9 +OMIM:613144 skos:exactMatch UMLS:C2751055 Unspecified choroidal dystrophy, central areolar, 3 +OMIM:615798 skos:exactMatch HGNC_symbol:CLDN6 Unspecified CLDN6 +OMIM:615798 skos:exactMatch UMLS:C1413476 Unspecified CLDN6 +OMIM:615798 skos:exactMatch HGNC:2048 Unspecified CLDN6 +OMIM:613143 skos:exactMatch HGNC:30323 Unspecified DTX3L +OMIM:613143 skos:exactMatch UMLS:C1539313 Unspecified DTX3L +OMIM:613143 skos:exactMatch HGNC_symbol:DTX3L Unspecified DTX3L +OMIM:615799 skos:exactMatch UMLS:C1413479 Unspecified CLDN9 +OMIM:615799 skos:exactMatch HGNC_symbol:CLDN9 Unspecified CLDN9 +OMIM:615799 skos:exactMatch HGNC:2051 Unspecified CLDN9 +OMIM:615799 skos:exactMatch UMLS:C5436789 Unspecified CLDN9 +OMIM:613142 skos:exactMatch HGNC_symbol:DTX3 Unspecified DTX3 +OMIM:613142 skos:exactMatch HGNC:24457 Unspecified DTX3 +OMIM:613142 skos:exactMatch UMLS:C1428375 Unspecified DTX3 +OMIM:613141 skos:exactMatch HGNC_symbol:DTX2 Unspecified DTX2 +OMIM:613141 skos:exactMatch UMLS:C1423876 Unspecified DTX2 +OMIM:613141 skos:exactMatch HGNC:15973 Unspecified DTX2 +OMIM:613140 skos:exactMatch HGNC:23298 Unspecified TSPAN15 +OMIM:613140 skos:exactMatch UMLS:C1540095 Unspecified TSPAN15 +OMIM:613140 skos:exactMatch HGNC_symbol:TSPAN15 Unspecified TSPAN15 +OMIM:601160 skos:exactMatch UMLS:C1832678 Unspecified lissencephaly iia 3 and bone dysplasia +OMIM:601161 skos:exactMatch UMLS:C1832677 Unspecified trisomy 18-like syndrome +OMIM:601162 skos:exactMatch UMLS:C1832669 Unspecified spastic paraplegia 9a, autosomal dominant +OMIM:601163 skos:exactMatch UMLS:C1832668 Unspecified diaphragmatic defects, limb deficiencies, and ossification defects of skull +OMIM:601165 skos:exactMatch UMLS:C2931750 Unspecified cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease +OMIM:601166 skos:exactMatch HGNC_symbol:GPR15 Unspecified GPR15 +OMIM:601166 skos:exactMatch HGNC:4469 Unspecified GPR15 +OMIM:601166 skos:exactMatch UMLS:C1415210 Unspecified GPR15 +OMIM:158580 skos:exactMatch UMLS:C1834703 Unspecified neuronopathy, distal hereditary motor, iia 7a +OMIM:193007 skos:exactMatch UMLS:C0155502 Unspecified vertigo, benign recurrent +OMIM:193007 skos:exactMatch UMLS:C2749845 Unspecified vertigo, benign recurrent +OMIM:242500 skos:exactMatch UMLS:C0598226 Unspecified ichthyosis, congenital, autosomal recessive 4b +OMIM:242500 skos:exactMatch UMLS:C0239849 Unspecified ichthyosis, congenital, autosomal recessive 4b +OMIM:193005 skos:exactMatch UMLS:C2931176 Unspecified vestibulocochlear dysfunction, progressive +OMIM:193003 skos:exactMatch UMLS:C1860433 Unspecified nystagmus 4, congenital, autosomal dominant +OMIM:193002 skos:exactMatch UMLS:C1420114 Unspecified SLC18A1 +OMIM:193002 skos:exactMatch HGNC_symbol:SLC18A1 Unspecified SLC18A1 +OMIM:193002 skos:exactMatch HGNC:10934 Unspecified SLC18A1 +OMIM:193001 skos:exactMatch UMLS:C1420115 Unspecified SLC18A2 +OMIM:193001 skos:exactMatch HGNC_symbol:SLC18A2 Unspecified SLC18A2 +OMIM:193001 skos:exactMatch HGNC:10935 Unspecified SLC18A2 +OMIM:193000 skos:exactMatch UMLS:C4551858 Unspecified vesicoureteral reflux 1 +OMIM:181030 skos:exactMatch UMLS:C1519176 Unspecified salivary gland adenoma, pleomorphic +OMIM:181031 skos:exactMatch HGNC_symbol:SAG Unspecified SAG +OMIM:181031 skos:exactMatch UMLS:C1419805 Unspecified SAG +OMIM:181031 skos:exactMatch HGNC:10521 Unspecified SAG +OMIM:181035 skos:exactMatch UMLS:C1823519 Unspecified TSPAN31 +OMIM:181035 skos:exactMatch HGNC_symbol:TSPAN31 Unspecified TSPAN31 +OMIM:181035 skos:exactMatch HGNC:10539 Unspecified TSPAN31 +OMIM:242510 skos:exactMatch UMLS:C1855788 Unspecified ichthyosis with alopecia, eclabium, ectropion, and mental retardation +OMIM:230500 skos:exactMatch UMLS:C1968748 Unspecified gm1-gangliosidosis, iia 1 +OMIM:230500 skos:exactMatch UMLS:C0268271 Unspecified gm1-gangliosidosis, iia 1 +OMIM:181000 skos:exactMatch UMLS:C2697310 Unspecified sarcoidosis, susceptibility to, 1 +OMIM:120090 skos:exactMatch HGNC:2203 Unspecified COL4A2 +OMIM:120090 skos:exactMatch UMLS:C1413583 Unspecified COL4A2 +OMIM:120090 skos:exactMatch HGNC_symbol:COL4A2 Unspecified COL4A2 +OMIM:181010 skos:exactMatch UMLS:C0036089 Unspecified salivary duct calculi +OMIM:120080 skos:exactMatch UMLS:C1861502 Unspecified colchicine resistance +OMIM:120070 skos:exactMatch UMLS:C1332774 Unspecified COL4A3 +OMIM:120070 skos:exactMatch UMLS:C0241908 Unspecified COL4A3 +OMIM:120070 skos:exactMatch HGNC:2204 Unspecified COL4A3 +OMIM:120070 skos:exactMatch UMLS:C4746547 Unspecified COL4A3 +OMIM:120070 skos:exactMatch UMLS:C4746745 Unspecified COL4A3 +OMIM:120070 skos:exactMatch HGNC_symbol:COL4A3 Unspecified COL4A3 +OMIM:193040 skos:exactMatch HGNC:12690 Unspecified VIL1 +OMIM:193040 skos:exactMatch UMLS:C1421449 Unspecified VIL1 +OMIM:193040 skos:exactMatch HGNC_symbol:VIL1 Unspecified VIL1 +OMIM:120050 skos:exactMatch UMLS:C1861511 Unspecified coxsackievirus b3 susceptibility +OMIM:217500 skos:exactMatch UMLS:C0155120 Unspecified corneal dystrophy, band-shaped +OMIM:229500 skos:exactMatch UMLS:C1856686 Unspecified fructose and galactose intolerance +OMIM:120040 skos:exactMatch UMLS:C1861512 Unspecified cochleosaccular degeneration with progressive cataracts +OMIM:217520 skos:exactMatch UMLS:C1857571 Unspecified corneal degeneration, band-shaped spheroid +OMIM:193090 skos:exactMatch UMLS:C2674026 Unspecified transcobalamin 1 deficiency +OMIM:193090 skos:exactMatch UMLS:C0342700 Unspecified transcobalamin 1 deficiency +OMIM:109691 skos:exactMatch HGNC:288 Unspecified ADRB3 +OMIM:109691 skos:exactMatch HGNC_symbol:ADRB3 Unspecified ADRB3 +OMIM:109691 skos:exactMatch UMLS:C1439274 Unspecified ADRB3 +OMIM:109690 skos:exactMatch UMLS:C5193154 Unspecified ADRB2 +OMIM:109690 skos:exactMatch HGNC:286 Unspecified ADRB2 +OMIM:109690 skos:exactMatch UMLS:C1367657 Unspecified ADRB2 +OMIM:109690 skos:exactMatch HGNC_symbol:ADRB2 Unspecified ADRB2 +OMIM:109690 skos:exactMatch UMLS:C3835585 Unspecified ADRB2 +OMIM:109690 skos:exactMatch UMLS:C1862282 Unspecified ADRB2 +OMIM:193060 skos:exactMatch UMLS:C1421451 Unspecified VIM +OMIM:193060 skos:exactMatch UMLS:C3805411 Unspecified VIM +OMIM:193060 skos:exactMatch HGNC_symbol:VIM Unspecified VIM +OMIM:193060 skos:exactMatch HGNC:12692 Unspecified VIM +OMIM:193060 skos:exactMatch UMLS:C4479666 Unspecified VIM +OMIM:193060 skos:exactMatch UMLS:C4479667 Unspecified VIM +OMIM:120000 skos:exactMatch UMLS:C0003492 Unspecified coarctation of aorta +OMIM:193067 skos:exactMatch UMLS:C1860424 Unspecified FLI1 +OMIM:193067 skos:exactMatch UMLS:C1860425 Unspecified FLI1 +OMIM:193067 skos:exactMatch HGNC:3749 Unspecified FLI1 +OMIM:193067 skos:exactMatch UMLS:C0808900 Unspecified FLI1 +OMIM:193067 skos:exactMatch HGNC_symbol:FLI1 Unspecified FLI1 +OMIM:193065 skos:exactMatch UMLS:C1336929 Unspecified VCL +OMIM:193065 skos:exactMatch HGNC:12665 Unspecified VCL +OMIM:193065 skos:exactMatch HGNC_symbol:VCL Unspecified VCL +OMIM:193070 skos:exactMatch UMLS:C1860423 Unspecified virus rd114 RNA complementarity +OMIM:109670 skos:exactMatch UMLS:C1862288 Unspecified beta-adrenergic stimulation, response to +OMIM:603920 skos:exactMatch HGNC:2420 Unspecified CRYZL1 +OMIM:603920 skos:exactMatch HGNC_symbol:CRYZL1 Unspecified CRYZL1 +OMIM:603920 skos:exactMatch UMLS:C1413743 Unspecified CRYZL1 +OMIM:109675 skos:exactMatch UMLS:C1539865 Unspecified ST6GAL1 +OMIM:109675 skos:exactMatch HGNC_symbol:ST6GAL1 Unspecified ST6GAL1 +OMIM:109675 skos:exactMatch HGNC:10860 Unspecified ST6GAL1 +OMIM:603922 skos:exactMatch UMLS:C1420512 Unspecified SUCLG2 +OMIM:603922 skos:exactMatch HGNC_symbol:SUCLG2 Unspecified SUCLG2 +OMIM:603922 skos:exactMatch HGNC:11450 Unspecified SUCLG2 +OMIM:603921 skos:exactMatch UMLS:C1420510 Unspecified SUCLA2 +OMIM:603921 skos:exactMatch HGNC_symbol:SUCLA2 Unspecified SUCLA2 +OMIM:603921 skos:exactMatch HGNC:11448 Unspecified SUCLA2 +OMIM:603924 skos:exactMatch HGNC:4798 Unspecified HABP2 +OMIM:603924 skos:exactMatch UMLS:C1415457 Unspecified HABP2 +OMIM:603924 skos:exactMatch HGNC_symbol:HABP2 Unspecified HABP2 +OMIM:603926 skos:exactMatch HGNC:11499 Unspecified SYNGR2 +OMIM:603926 skos:exactMatch UMLS:C1420548 Unspecified SYNGR2 +OMIM:603926 skos:exactMatch HGNC_symbol:SYNGR2 Unspecified SYNGR2 +OMIM:603925 skos:exactMatch UMLS:C1420547 Unspecified SYNGR1 +OMIM:603925 skos:exactMatch HGNC_symbol:SYNGR1 Unspecified SYNGR1 +OMIM:603925 skos:exactMatch HGNC:11498 Unspecified SYNGR1 +OMIM:603928 skos:exactMatch HGNC:3285 Unspecified EIF4B +OMIM:603928 skos:exactMatch UMLS:C1414350 Unspecified EIF4B +OMIM:603928 skos:exactMatch HGNC_symbol:EIF4B Unspecified EIF4B +OMIM:603927 skos:exactMatch HGNC:11501 Unspecified SYNGR3 +OMIM:603927 skos:exactMatch UMLS:C1420550 Unspecified SYNGR3 +OMIM:603927 skos:exactMatch HGNC_symbol:SYNGR3 Unspecified SYNGR3 +OMIM:603929 skos:exactMatch HGNC:3298 Unspecified EIF4G3 +OMIM:603929 skos:exactMatch UMLS:C1414358 Unspecified EIF4G3 +OMIM:603929 skos:exactMatch HGNC_symbol:EIF4G3 Unspecified EIF4G3 +OMIM:615900 skos:exactMatch HGNC_symbol:AGBL5 Unspecified AGBL5 +OMIM:615900 skos:exactMatch HGNC:26147 Unspecified AGBL5 +OMIM:615900 skos:exactMatch UMLS:C2239294 Unspecified AGBL5 +OMIM:119000 skos:exactMatch UMLS:C1849227 Unspecified cleft chin +OMIM:615901 skos:exactMatch HGNC:33739 Unspecified NCCRP1 +OMIM:615901 skos:exactMatch HGNC_symbol:NCCRP1 Unspecified NCCRP1 +OMIM:615901 skos:exactMatch UMLS:C2681859 Unspecified NCCRP1 +OMIM:615902 skos:exactMatch HGNC_symbol:PPP2R3C Unspecified PPP2R3C +OMIM:615902 skos:exactMatch HGNC:17485 Unspecified PPP2R3C +OMIM:615902 skos:exactMatch UMLS:C1424980 Unspecified PPP2R3C +OMIM:615903 skos:exactMatch HGNC_symbol:CHCHD10 Unspecified CHCHD10 +OMIM:615903 skos:exactMatch HGNC:15559 Unspecified CHCHD10 +OMIM:615903 skos:exactMatch UMLS:C1538423 Unspecified CHCHD10 +OMIM:615904 skos:exactMatch HGNC_symbol:PXDNL Unspecified PXDNL +OMIM:615904 skos:exactMatch UMLS:C1826746 Unspecified PXDNL +OMIM:615904 skos:exactMatch HGNC:26359 Unspecified PXDNL +OMIM:615905 skos:exactMatch UMLS:C4014621 Unspecified developmental and epileptic encephalopathy 25 with amelogenesis imperfecta +OMIM:615905 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 25 with amelogenesis imperfecta +OMIM:615906 skos:exactMatch HGNC_symbol:OBI1 Unspecified OBI1 +OMIM:615906 skos:exactMatch HGNC:20308 Unspecified OBI1 +OMIM:615906 skos:exactMatch UMLS:C1426846 Unspecified OBI1 +OMIM:615907 skos:exactMatch UMLS:C4747769 Unspecified lymphatic malformation 4 +OMIM:615908 skos:exactMatch UMLS:C1826098 Unspecified MIR520C +OMIM:615908 skos:exactMatch HGNC:32108 Unspecified MIR520C +OMIM:615908 skos:exactMatch HGNC_symbol:MIR520C Unspecified MIR520C +OMIM:615909 skos:exactMatch UMLS:C4014641 Unspecified diamond-blackfan anemia 13 +OMIM:603911 skos:exactMatch HGNC:3272 Unspecified EIF3I +OMIM:603911 skos:exactMatch UMLS:C1414339 Unspecified EIF3I +OMIM:603911 skos:exactMatch HGNC_symbol:EIF3I Unspecified EIF3I +OMIM:109685 skos:exactMatch HGNC:5211 Unspecified HSD17B2 +OMIM:109685 skos:exactMatch UMLS:C1333926 Unspecified HSD17B2 +OMIM:109685 skos:exactMatch HGNC_symbol:HSD17B2 Unspecified HSD17B2 +OMIM:603910 skos:exactMatch HGNC:3270 Unspecified EIF3J +OMIM:603910 skos:exactMatch UMLS:C1414337 Unspecified EIF3J +OMIM:603910 skos:exactMatch HGNC_symbol:EIF3J Unspecified EIF3J +OMIM:109684 skos:exactMatch HGNC:5210 Unspecified HSD17B1 +OMIM:109684 skos:exactMatch HGNC_symbol:HSD17B1 Unspecified HSD17B1 +OMIM:109684 skos:exactMatch UMLS:C1415738 Unspecified HSD17B1 +OMIM:603913 skos:exactMatch HGNC:3274 Unspecified EIF3G +OMIM:603913 skos:exactMatch UMLS:C1414341 Unspecified EIF3G +OMIM:603913 skos:exactMatch HGNC_symbol:EIF3G Unspecified EIF3G +OMIM:603912 skos:exactMatch HGNC:3273 Unspecified EIF3H +OMIM:603912 skos:exactMatch UMLS:C1414340 Unspecified EIF3H +OMIM:603912 skos:exactMatch HGNC_symbol:EIF3H Unspecified EIF3H +OMIM:603915 skos:exactMatch HGNC:3278 Unspecified EIF3D +OMIM:603915 skos:exactMatch UMLS:C1414344 Unspecified EIF3D +OMIM:603915 skos:exactMatch HGNC_symbol:EIF3D Unspecified EIF3D +OMIM:603914 skos:exactMatch HGNC:3275 Unspecified EIF3F +OMIM:603914 skos:exactMatch UMLS:C1414342 Unspecified EIF3F +OMIM:603914 skos:exactMatch HGNC_symbol:EIF3F Unspecified EIF3F +OMIM:603917 skos:exactMatch HGNC:3280 Unspecified EIF3B +OMIM:603917 skos:exactMatch UMLS:C1414346 Unspecified EIF3B +OMIM:603917 skos:exactMatch HGNC_symbol:EIF3B Unspecified EIF3B +OMIM:603916 skos:exactMatch HGNC:3279 Unspecified EIF3C +OMIM:603916 skos:exactMatch UMLS:C1414345 Unspecified EIF3C +OMIM:603916 skos:exactMatch HGNC_symbol:EIF3C Unspecified EIF3C +OMIM:603919 skos:exactMatch HGNC:11388 Unspecified STK10 +OMIM:603919 skos:exactMatch UMLS:C1420463 Unspecified STK10 +OMIM:603919 skos:exactMatch HGNC_symbol:STK10 Unspecified STK10 +OMIM:603918 skos:exactMatch UMLS:C1858967 Unspecified hypertension, essential, susceptibility to, 1 +OMIM:603900 skos:exactMatch HGNC:12963 Unspecified ZNF174 +OMIM:603900 skos:exactMatch HGNC_symbol:ZNF174 Unspecified ZNF174 +OMIM:603900 skos:exactMatch UMLS:C1421662 Unspecified ZNF174 +OMIM:603902 skos:exactMatch UMLS:C1858990 Unspecified beta-thalassemia, dominant inclusion body iia +OMIM:603901 skos:exactMatch HGNC_symbol:ZPR1 Unspecified ZPR1 +OMIM:603901 skos:exactMatch UMLS:C1421745 Unspecified ZPR1 +OMIM:603901 skos:exactMatch HGNC:13051 Unspecified ZPR1 +OMIM:109650 skos:exactMatch UMLS:C0004943 Unspecified Behcet syndrome +OMIM:603904 skos:exactMatch UMLS:C1416512 Unspecified ITM2B +OMIM:603904 skos:exactMatch HGNC:6174 Unspecified ITM2B +OMIM:603904 skos:exactMatch HGNC_symbol:ITM2B Unspecified ITM2B +OMIM:603903 skos:exactMatch UMLS:C0002895 Unspecified sickle cell anemia +OMIM:603906 skos:exactMatch HGNC:2015 Unspecified CLCA1 +OMIM:603906 skos:exactMatch HGNC_symbol:CLCA1 Unspecified CLCA1 +OMIM:603906 skos:exactMatch UMLS:C1413447 Unspecified CLCA1 +OMIM:603905 skos:exactMatch HGNC:11914 Unspecified TNFRSF18 +OMIM:603905 skos:exactMatch UMLS:C1420810 Unspecified TNFRSF18 +OMIM:603905 skos:exactMatch HGNC_symbol:TNFRSF18 Unspecified TNFRSF18 +OMIM:603908 skos:exactMatch HGNC:3266 Unspecified EIF2S2 +OMIM:603908 skos:exactMatch UMLS:C1414335 Unspecified EIF2S2 +OMIM:603908 skos:exactMatch HGNC_symbol:EIF2S2 Unspecified EIF2S2 +OMIM:603907 skos:exactMatch HGNC:3265 Unspecified EIF2S1 +OMIM:603907 skos:exactMatch UMLS:C1414334 Unspecified EIF2S1 +OMIM:603907 skos:exactMatch HGNC_symbol:EIF2S1 Unspecified EIF2S1 +OMIM:603909 skos:exactMatch UMLS:C1858968 Unspecified autoimmune lymphoproliferative syndrome, iia 2a +OMIM:109660 skos:exactMatch UMLS:C1862289 Unspecified beta-amino acids, renal transport of +OMIM:107000 skos:exactMatch UMLS:C3275544 Unspecified nail disorder, nonsyndromic congenital, 6 +OMIM:603841 skos:exactMatch HGNC:7700 Unspecified NDUFB5 +OMIM:603841 skos:exactMatch UMLS:C1417637 Unspecified NDUFB5 +OMIM:603841 skos:exactMatch HGNC_symbol:NDUFB5 Unspecified NDUFB5 +OMIM:603840 skos:exactMatch HGNC:7699 Unspecified NDUFB4 +OMIM:603840 skos:exactMatch UMLS:C1417636 Unspecified NDUFB4 +OMIM:603840 skos:exactMatch HGNC_symbol:NDUFB4 Unspecified NDUFB4 +OMIM:603843 skos:exactMatch HGNC:7696 Unspecified NDUFB10 +OMIM:603843 skos:exactMatch HGNC_symbol:NDUFB10 Unspecified NDUFB10 +OMIM:603843 skos:exactMatch UMLS:C1417633 Unspecified NDUFB10 +OMIM:603843 skos:exactMatch UMLS:C5436576 Unspecified NDUFB10 +OMIM:603842 skos:exactMatch HGNC:7702 Unspecified NDUFB7 +OMIM:603842 skos:exactMatch UMLS:C1417639 Unspecified NDUFB7 +OMIM:603842 skos:exactMatch HGNC_symbol:NDUFB7 Unspecified NDUFB7 +OMIM:603845 skos:exactMatch HGNC:7706 Unspecified NDUFC2 +OMIM:603845 skos:exactMatch UMLS:C1417643 Unspecified NDUFC2 +OMIM:603845 skos:exactMatch HGNC_symbol:NDUFC2 Unspecified NDUFC2 +OMIM:603844 skos:exactMatch HGNC:7705 Unspecified NDUFC1 +OMIM:603844 skos:exactMatch UMLS:C1417642 Unspecified NDUFC1 +OMIM:603844 skos:exactMatch HGNC_symbol:NDUFC1 Unspecified NDUFC1 +OMIM:109750 skos:exactMatch HGNC:1062 Unspecified BLVRA +OMIM:109750 skos:exactMatch UMLS:C1412801 Unspecified BLVRA +OMIM:109750 skos:exactMatch HGNC_symbol:BLVRA Unspecified BLVRA +OMIM:603847 skos:exactMatch HGNC:7712 Unspecified NDUFS5 +OMIM:603847 skos:exactMatch UMLS:C1417648 Unspecified NDUFS5 +OMIM:603847 skos:exactMatch HGNC_symbol:NDUFS5 Unspecified NDUFS5 +OMIM:603846 skos:exactMatch HGNC:7710 Unspecified NDUFS3 +OMIM:603846 skos:exactMatch UMLS:C1417646 Unspecified NDUFS3 +OMIM:603846 skos:exactMatch HGNC_symbol:NDUFS3 Unspecified NDUFS3 +OMIM:603849 skos:exactMatch HGNC_symbol:NR2E1 Unspecified NR2E1 +OMIM:603849 skos:exactMatch HGNC:7973 Unspecified NR2E1 +OMIM:603849 skos:exactMatch UMLS:C1417831 Unspecified NR2E1 +OMIM:603848 skos:exactMatch HGNC:7713 Unspecified NDUFS6 +OMIM:603848 skos:exactMatch UMLS:C1417649 Unspecified NDUFS6 +OMIM:603848 skos:exactMatch HGNC_symbol:NDUFS6 Unspecified NDUFS6 +OMIM:615820 skos:exactMatch HGNC_symbol:DCAF8 Unspecified DCAF8 +OMIM:615820 skos:exactMatch UMLS:C1538083 Unspecified DCAF8 +OMIM:615820 skos:exactMatch HGNC:24891 Unspecified DCAF8 +OMIM:615821 skos:exactMatch UMLS:C4014393 Unspecified cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis +OMIM:615821 skos:exactMatch ORPHA:65282 Unspecified cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis +OMIM:615822 skos:exactMatch HGNC:20922 Unspecified SLX1A +OMIM:615822 skos:exactMatch HGNC_symbol:SLX1A Unspecified SLX1A +OMIM:615822 skos:exactMatch UMLS:C3146466 Unspecified SLX1A +OMIM:615823 skos:exactMatch HGNC:28748 Unspecified SLX1B +OMIM:615823 skos:exactMatch HGNC_symbol:SLX1B Unspecified SLX1B +OMIM:615823 skos:exactMatch UMLS:C1825355 Unspecified SLX1B +OMIM:615824 skos:exactMatch UMLS:C4014408 Unspecified mitochondrial complex 3 deficiency, nuclear iia 7 +OMIM:615825 skos:exactMatch HGNC_symbol:SUSD2 Unspecified SUSD2 +OMIM:615825 skos:exactMatch HGNC:30667 Unspecified SUSD2 +OMIM:615825 skos:exactMatch UMLS:C1428987 Unspecified SUSD2 +OMIM:615826 skos:exactMatch UMLS:C1823813 Unspecified STPG1 +OMIM:615826 skos:exactMatch HGNC_symbol:STPG1 Unspecified STPG1 +OMIM:615826 skos:exactMatch HGNC:28070 Unspecified STPG1 +OMIM:615827 skos:exactMatch HGNC:25470 Unspecified SUSD4 +OMIM:615827 skos:exactMatch HGNC_symbol:SUSD4 Unspecified SUSD4 +OMIM:615827 skos:exactMatch UMLS:C1539899 Unspecified SUSD4 +OMIM:615828 skos:exactMatch ORPHA:178469 Unspecified vulto-van silfhout-de vries syndrome +OMIM:615828 skos:exactMatch UMLS:C4014414 Unspecified vulto-van silfhout-de vries syndrome +OMIM:615829 skos:exactMatch ORPHA:412069 Unspecified xia-gibbs syndrome +OMIM:615829 skos:exactMatch UMLS:C5436345 Unspecified xia-gibbs syndrome +OMIM:615829 skos:exactMatch UMLS:C4014419 Unspecified xia-gibbs syndrome +OMIM:122720 skos:exactMatch UMLS:C1852514 Unspecified CYP2A6 +OMIM:122720 skos:exactMatch UMLS:C1413868 Unspecified CYP2A6 +OMIM:122720 skos:exactMatch HGNC_symbol:CYP2A6 Unspecified CYP2A6 +OMIM:122720 skos:exactMatch HGNC:2610 Unspecified CYP2A6 +OMIM:603850 skos:exactMatch HGNC_symbol:DNM1L Unspecified DNM1L +OMIM:603850 skos:exactMatch UMLS:C4310912 Unspecified DNM1L +OMIM:603850 skos:exactMatch UMLS:C1853139 Unspecified DNM1L +OMIM:603850 skos:exactMatch UMLS:C1414119 Unspecified DNM1L +OMIM:603850 skos:exactMatch HGNC:2973 Unspecified DNM1L +OMIM:603850 skos:exactMatch UMLS:C3280660 Unspecified DNM1L +OMIM:603830 skos:exactMatch UMLS:C1838527 Unspecified long qt syndrome 3 +OMIM:603830 skos:exactMatch UMLS:C3276240 Unspecified long qt syndrome 3 +OMIM:603830 skos:exactMatch UMLS:C3276241 Unspecified long qt syndrome 3 +OMIM:603830 skos:exactMatch UMLS:C1859062 Unspecified long qt syndrome 3 +OMIM:603832 skos:exactMatch HGNC:7686 Unspecified NDUFA3 +OMIM:603832 skos:exactMatch UMLS:C1417623 Unspecified NDUFA3 +OMIM:603832 skos:exactMatch HGNC_symbol:NDUFA3 Unspecified NDUFA3 +OMIM:603831 skos:exactMatch HGNC:8821 Unspecified PDZK1 +OMIM:603831 skos:exactMatch UMLS:C1418448 Unspecified PDZK1 +OMIM:603831 skos:exactMatch HGNC_symbol:PDZK1 Unspecified PDZK1 +OMIM:603834 skos:exactMatch HGNC:7693 Unspecified NDUFA9 +OMIM:603834 skos:exactMatch UMLS:C1417630 Unspecified NDUFA9 +OMIM:603834 skos:exactMatch HGNC_symbol:NDUFA9 Unspecified NDUFA9 +OMIM:107100 skos:exactMatch UMLS:C3495676 Unspecified anorectal anomalies +OMIM:603833 skos:exactMatch HGNC:7687 Unspecified COXFA4 +OMIM:603833 skos:exactMatch UMLS:C1417624 Unspecified COXFA4 +OMIM:603833 skos:exactMatch UMLS:C5436727 Unspecified COXFA4 +OMIM:603833 skos:exactMatch HGNC_symbol:NDUFA4 Unspecified COXFA4 +OMIM:603836 skos:exactMatch HGNC:7694 Unspecified NDUFAB1 +OMIM:603836 skos:exactMatch HGNC_symbol:NDUFAB1 Unspecified NDUFAB1 +OMIM:603836 skos:exactMatch UMLS:C1417631 Unspecified NDUFAB1 +OMIM:109760 skos:exactMatch UMLS:C1415803 Unspecified HTR1A +OMIM:109760 skos:exactMatch HGNC_symbol:HTR1A Unspecified HTR1A +OMIM:109760 skos:exactMatch HGNC:5286 Unspecified HTR1A +OMIM:603835 skos:exactMatch HGNC:7684 Unspecified NDUFA10 +OMIM:603835 skos:exactMatch HGNC_symbol:NDUFA10 Unspecified NDUFA10 +OMIM:603835 skos:exactMatch UMLS:C1417621 Unspecified NDUFA10 +OMIM:603838 skos:exactMatch HGNC:7697 Unspecified NDUFB2 +OMIM:603838 skos:exactMatch UMLS:C1417634 Unspecified NDUFB2 +OMIM:603838 skos:exactMatch HGNC_symbol:NDUFB2 Unspecified NDUFB2 +OMIM:603837 skos:exactMatch HGNC:7695 Unspecified NDUFB1 +OMIM:603837 skos:exactMatch UMLS:C1417632 Unspecified NDUFB1 +OMIM:603837 skos:exactMatch HGNC_symbol:NDUFB1 Unspecified NDUFB1 +OMIM:134600 skos:exactMatch ORPHA:3337 Unspecified fanconi renotubular syndrome 1 +OMIM:134600 skos:exactMatch UMLS:C4551503 Unspecified fanconi renotubular syndrome 1 +OMIM:134600 skos:exactMatch UMLS:C0341703 Unspecified fanconi renotubular syndrome 1 +OMIM:603839 skos:exactMatch HGNC:7698 Unspecified NDUFB3 +OMIM:603839 skos:exactMatch UMLS:C1417635 Unspecified NDUFB3 +OMIM:603839 skos:exactMatch HGNC_symbol:NDUFB3 Unspecified NDUFB3 +OMIM:615810 skos:exactMatch HGNC_symbol:C11orf54 Unspecified C11ORF54 +OMIM:615810 skos:exactMatch HGNC:30204 Unspecified C11ORF54 +OMIM:615810 skos:exactMatch UMLS:C1824320 Unspecified C11ORF54 +OMIM:615811 skos:exactMatch UMLS:C1418802 Unspecified PPIL3 +OMIM:615811 skos:exactMatch HGNC_symbol:PPIL3 Unspecified PPIL3 +OMIM:615811 skos:exactMatch HGNC:9262 Unspecified PPIL3 +OMIM:615812 skos:exactMatch UMLS:C4014361 Unspecified abdominal obesity-metabolic syndrome 3 +OMIM:615813 skos:exactMatch UMLS:C2829373 Unspecified FAM193B +OMIM:615813 skos:exactMatch HGNC:25524 Unspecified FAM193B +OMIM:615813 skos:exactMatch HGNC_symbol:FAM193B Unspecified FAM193B +OMIM:615814 skos:exactMatch HGNC:11447 Unspecified STYX +OMIM:615814 skos:exactMatch HGNC_symbol:STYX Unspecified STYX +OMIM:615814 skos:exactMatch UMLS:C1420509 Unspecified STYX +OMIM:615815 skos:exactMatch HGNC:44177 Unspecified SENCR +OMIM:615815 skos:exactMatch UMLS:C3811474 Unspecified SENCR +OMIM:615815 skos:exactMatch HGNC_symbol:SENCR Unspecified SENCR +OMIM:615816 skos:exactMatch ORPHA:443811 Unspecified immunodeficiency 23 +OMIM:615816 skos:exactMatch UMLS:C4014371 Unspecified immunodeficiency 23 +OMIM:615817 skos:exactMatch UMLS:C4014386 Unspecified intellectual developmental disorder, autosomal recessive 43 +OMIM:615818 skos:exactMatch UMLS:C2680360 Unspecified RRP8 +OMIM:615818 skos:exactMatch HGNC_symbol:RRP8 Unspecified RRP8 +OMIM:615818 skos:exactMatch HGNC:29030 Unspecified RRP8 +OMIM:615819 skos:exactMatch UMLS:C1823148 Unspecified SULT1A4 +OMIM:615819 skos:exactMatch HGNC:30004 Unspecified SULT1A4 +OMIM:615819 skos:exactMatch HGNC_symbol:SULT1A4 Unspecified SULT1A4 +OMIM:301220 skos:exactMatch UMLS:C1845050 Unspecified pigmentary disorder, reticulate, with systemic manifestations, X-linked +OMIM:603821 skos:exactMatch HGNC:4499 Unspecified FFAR3 +OMIM:603821 skos:exactMatch HGNC_symbol:FFAR3 Unspecified FFAR3 +OMIM:603821 skos:exactMatch UMLS:C1825294 Unspecified FFAR3 +OMIM:603820 skos:exactMatch HGNC:4498 Unspecified FFAR1 +OMIM:603820 skos:exactMatch HGNC_symbol:FFAR1 Unspecified FFAR1 +OMIM:603820 skos:exactMatch UMLS:C1825292 Unspecified FFAR1 +OMIM:109730 skos:exactMatch UMLS:C3887892 Unspecified aortic valve disease 1 +OMIM:109730 skos:exactMatch UMLS:C0149630 Unspecified aortic valve disease 1 +OMIM:109730 skos:exactMatch UMLS:C1260873 Unspecified aortic valve disease 1 +OMIM:603823 skos:exactMatch HGNC:4501 Unspecified FFAR2 +OMIM:603823 skos:exactMatch UMLS:C1825293 Unspecified FFAR2 +OMIM:603823 skos:exactMatch HGNC_symbol:FFAR2 Unspecified FFAR2 +OMIM:603822 skos:exactMatch HGNC_symbol:GPR42 Unspecified GPR42 +OMIM:603822 skos:exactMatch HGNC:4500 Unspecified GPR42 +OMIM:603822 skos:exactMatch UMLS:C1415236 Unspecified GPR42 +OMIM:603825 skos:exactMatch UMLS:C1415544 Unspecified HIC1 +OMIM:603825 skos:exactMatch HGNC_symbol:HIC1 Unspecified HIC1 +OMIM:603825 skos:exactMatch HGNC:4909 Unspecified HIC1 +OMIM:603824 skos:exactMatch HGNC_symbol:GNE Unspecified GNE +OMIM:603824 skos:exactMatch HGNC:23657 Unspecified GNE +OMIM:603824 skos:exactMatch UMLS:C1428183 Unspecified GNE +OMIM:603827 skos:exactMatch HGNC:994 Unspecified BCL2L11 +OMIM:603827 skos:exactMatch HGNC_symbol:BCL2L11 Unspecified BCL2L11 +OMIM:603827 skos:exactMatch UMLS:C1337096 Unspecified BCL2L11 +OMIM:603826 skos:exactMatch HGNC_symbol:NR1H4 Unspecified NR1H4 +OMIM:603826 skos:exactMatch HGNC:7967 Unspecified NR1H4 +OMIM:603826 skos:exactMatch UMLS:C1417825 Unspecified NR1H4 +OMIM:603829 skos:exactMatch UMLS:C2751898 Unspecified ventricular fibrillation, paroxysmal familial, 1 +OMIM:603829 skos:exactMatch UMLS:C4017668 Unspecified ventricular fibrillation, paroxysmal familial, 1 +OMIM:603828 skos:exactMatch UMLS:C1859069 Unspecified brittle bone disorder +OMIM:134610 skos:exactMatch ORPHA:342 Unspecified familial mediterranean fever, autosomal dominant +OMIM:134610 skos:exactMatch UMLS:C1851347 Unspecified familial mediterranean fever, autosomal dominant +OMIM:110720 skos:exactMatch UMLS:C1862238 Unspecified blood group--en +OMIM:313200 skos:exactMatch UMLS:C1839259 Unspecified spinal and bulbar muscular atrophy, X-linked 1 +OMIM:313200 skos:exactMatch UMLS:C2931395 Unspecified spinal and bulbar muscular atrophy, X-linked 1 +OMIM:615800 skos:exactMatch UMLS:C1414821 Unspecified FSCN3 +OMIM:615800 skos:exactMatch HGNC_symbol:FSCN3 Unspecified FSCN3 +OMIM:615800 skos:exactMatch HGNC:3961 Unspecified FSCN3 +OMIM:615802 skos:exactMatch UMLS:C4014343 Unspecified neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities +OMIM:615803 skos:exactMatch UMLS:C4014347 Unspecified pontocerebellar hypoplasia, iia 10 +OMIM:615804 skos:exactMatch UMLS:C3814928 Unspecified URAD +OMIM:615804 skos:exactMatch HGNC:17785 Unspecified URAD +OMIM:615804 skos:exactMatch HGNC_symbol:URAD Unspecified URAD +OMIM:615805 skos:exactMatch HGNC_symbol:URAHP Unspecified URAHP +OMIM:615805 skos:exactMatch UMLS:C3814929 Unspecified URAHP +OMIM:615805 skos:exactMatch HGNC:43695 Unspecified URAHP +OMIM:615806 skos:exactMatch UMLS:C1427907 Unspecified SLC15A4 +OMIM:615806 skos:exactMatch HGNC:23090 Unspecified SLC15A4 +OMIM:615806 skos:exactMatch HGNC_symbol:SLC15A4 Unspecified SLC15A4 +OMIM:615807 skos:exactMatch UMLS:C3891452 Unspecified seckel syndrome 8 +OMIM:109720 skos:exactMatch UMLS:C4551595 Unspecified biliary cirrhosis, primary, 1 +OMIM:615808 skos:exactMatch UMLS:C1824596 Unspecified TMA7 +OMIM:615808 skos:exactMatch HGNC_symbol:TMA7 Unspecified TMA7 +OMIM:615808 skos:exactMatch HGNC:26932 Unspecified TMA7 +OMIM:615809 skos:exactMatch UMLS:C4014354 Unspecified pontocerebellar hypoplasia, iia 9 +OMIM:122700 skos:exactMatch UMLS:C0750384 Unspecified coumarin resistance +OMIM:603810 skos:exactMatch HGNC_symbol:MED17 Unspecified MED17 +OMIM:603810 skos:exactMatch UMLS:C1332784 Unspecified MED17 +OMIM:603810 skos:exactMatch HGNC:2375 Unspecified MED17 +OMIM:603812 skos:exactMatch HGNC:20224 Unspecified DCAF5 +OMIM:603812 skos:exactMatch UMLS:C1336984 Unspecified DCAF5 +OMIM:603812 skos:exactMatch HGNC_symbol:DCAF5 Unspecified DCAF5 +OMIM:603811 skos:exactMatch UMLS:C1424954 Unspecified BANF1 +OMIM:603811 skos:exactMatch HGNC_symbol:BANF1 Unspecified BANF1 +OMIM:603811 skos:exactMatch HGNC:17397 Unspecified BANF1 +OMIM:109740 skos:exactMatch UMLS:C2751431 Unspecified bifid nose, autosomal dominant +OMIM:603814 skos:exactMatch HGNC:9928 Unspecified RBX1 +OMIM:603814 skos:exactMatch HGNC_symbol:RBX1 Unspecified RBX1 +OMIM:603814 skos:exactMatch UMLS:C1335605 Unspecified RBX1 +OMIM:603813 skos:exactMatch UMLS:C1863512 Unspecified hypercholesterolemia, familial, 4 +OMIM:603816 skos:exactMatch HGNC:903 Unspecified AXIN1 +OMIM:603816 skos:exactMatch HGNC_symbol:AXIN1 Unspecified AXIN1 +OMIM:603816 skos:exactMatch UMLS:C1332125 Unspecified AXIN1 +OMIM:603815 skos:exactMatch UMLS:C1416695 Unspecified KIF25 +OMIM:603815 skos:exactMatch HGNC_symbol:KIF25 Unspecified KIF25 +OMIM:603815 skos:exactMatch HGNC:6390 Unspecified KIF25 +OMIM:603818 skos:exactMatch HGNC_symbol:NRG2 Unspecified NRG2 +OMIM:603818 skos:exactMatch UMLS:C1334902 Unspecified NRG2 +OMIM:603818 skos:exactMatch HGNC:7998 Unspecified NRG2 +OMIM:603817 skos:exactMatch HGNC:2721 Unspecified DDEF2 +OMIM:603817 skos:exactMatch UMLS:C1413945 Unspecified DDEF2 +OMIM:603817 skos:exactMatch HGNC_symbol:ASAP2 Unspecified DDEF2 +OMIM:603819 skos:exactMatch UMLS:C1420394 Unspecified SRA1 +OMIM:603819 skos:exactMatch HGNC_symbol:SRA1 Unspecified SRA1 +OMIM:603819 skos:exactMatch HGNC:11281 Unspecified SRA1 +OMIM:134629 skos:exactMatch HGNC_symbol:FDPS Unspecified FDPS +OMIM:134629 skos:exactMatch HGNC:3631 Unspecified FDPS +OMIM:134629 skos:exactMatch UMLS:C1414564 Unspecified FDPS +OMIM:146600 skos:exactMatch UMLS:C0432311 Unspecified ichthyosis hystrix gravior +OMIM:603885 skos:exactMatch HGNC:941 Unspecified BAG5 +OMIM:603885 skos:exactMatch HGNC_symbol:BAG5 Unspecified BAG5 +OMIM:603885 skos:exactMatch UMLS:C1332373 Unspecified BAG5 +OMIM:603884 skos:exactMatch HGNC_symbol:BAG4 Unspecified BAG4 +OMIM:603884 skos:exactMatch HGNC:940 Unspecified BAG4 +OMIM:603884 skos:exactMatch UMLS:C1332372 Unspecified BAG4 +OMIM:601223 skos:exactMatch UMLS:C1832589 Unspecified neuronal intestinal dysplasia, iia B +OMIM:603887 skos:exactMatch HGNC:11813 Unspecified TIMELESS +OMIM:603887 skos:exactMatch UMLS:C1420737 Unspecified TIMELESS +OMIM:603887 skos:exactMatch HGNC_symbol:TIMELESS Unspecified TIMELESS +OMIM:601224 skos:exactMatch ORPHA:52022 Unspecified potocki-shaffer syndrome +OMIM:601224 skos:exactMatch UMLS:C1832588 Unspecified potocki-shaffer syndrome +OMIM:603886 skos:exactMatch HGNC_symbol:ARTN Unspecified ARTN +OMIM:603886 skos:exactMatch HGNC:727 Unspecified ARTN +OMIM:603886 skos:exactMatch UMLS:C1412566 Unspecified ARTN +OMIM:601225 skos:exactMatch HGNC:3085 Unspecified DVL1L1 +OMIM:601225 skos:exactMatch HGNC_symbol:DVL1P1 Unspecified DVL1L1 +OMIM:601225 skos:exactMatch UMLS:C1414200 Unspecified DVL1L1 +OMIM:603889 skos:exactMatch HGNC_symbol:SIRPB1 Unspecified SIRPB1 +OMIM:603889 skos:exactMatch HGNC:15928 Unspecified SIRPB1 +OMIM:603889 skos:exactMatch UMLS:C1335826 Unspecified SIRPB1 +OMIM:603888 skos:exactMatch UMLS:C1416620 Unspecified KCNS3 +OMIM:603888 skos:exactMatch HGNC_symbol:KCNS3 Unspecified KCNS3 +OMIM:603888 skos:exactMatch HGNC:6302 Unspecified KCNS3 +OMIM:158600 skos:exactMatch UMLS:C1834690 Unspecified spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant +OMIM:601228 skos:exactMatch UMLS:C1832587 Unspecified polyposis syndrome, hereditary mixed, 1 +OMIM:601228 skos:exactMatch UMLS:C2677290 Unspecified polyposis syndrome, hereditary mixed, 1 +OMIM:601228 skos:exactMatch UMLS:C2677291 Unspecified polyposis syndrome, hereditary mixed, 1 +OMIM:613209 skos:exactMatch UMLS:C1823445 Unspecified TMEM181 +OMIM:613209 skos:exactMatch HGNC:20958 Unspecified TMEM181 +OMIM:613209 skos:exactMatch HGNC_symbol:TMEM181 Unspecified TMEM181 +OMIM:134635 skos:exactMatch HGNC:3782 Unspecified FNTA +OMIM:134635 skos:exactMatch HGNC_symbol:FNTA Unspecified FNTA +OMIM:134635 skos:exactMatch UMLS:C1414655 Unspecified FNTA +OMIM:613208 skos:exactMatch HGNC_symbol:XPC Unspecified XPC +OMIM:613208 skos:exactMatch HGNC:12816 Unspecified XPC +OMIM:613208 skos:exactMatch UMLS:C2752147 Unspecified XPC +OMIM:613208 skos:exactMatch UMLS:C1421540 Unspecified XPC +OMIM:613207 skos:exactMatch UMLS:C2750782 Unspecified asthma-related traits, susceptibility to, 8 +OMIM:613207 skos:exactMatch UMLS:C2750783 Unspecified asthma-related traits, susceptibility to, 8 +OMIM:110700 skos:exactMatch UMLS:C1970105 Unspecified blood group, duffy system +OMIM:110700 skos:exactMatch UMLS:C0013278 Unspecified blood group, duffy system +OMIM:613206 skos:exactMatch UMLS:C2750784 Unspecified spastic paraplegia 44, autosomal recessive +OMIM:613205 skos:exactMatch UMLS:C2750785 Unspecified muscular dystrophy, congenital, lmna-related +OMIM:615870 skos:exactMatch HGNC:18626 Unspecified IFT27 +OMIM:615870 skos:exactMatch HGNC_symbol:IFT27 Unspecified IFT27 +OMIM:615870 skos:exactMatch UMLS:C1425658 Unspecified IFT27 +OMIM:613204 skos:exactMatch UMLS:C2750786 Unspecified muscular dystrophy, congenital, due to integrin alpha-7 deficiency +OMIM:613203 skos:exactMatch HGNC:24453 Unspecified DSCC1 +OMIM:613203 skos:exactMatch HGNC_symbol:DSCC1 Unspecified DSCC1 +OMIM:613203 skos:exactMatch UMLS:C2239361 Unspecified DSCC1 +OMIM:134638 skos:exactMatch UMLS:C1539478 Unspecified FASLG +OMIM:134638 skos:exactMatch HGNC:11936 Unspecified FASLG +OMIM:134638 skos:exactMatch HGNC_symbol:FASLG Unspecified FASLG +OMIM:615871 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 24 +OMIM:615871 skos:exactMatch UMLS:C4014531 Unspecified developmental and epileptic encephalopathy 24 +OMIM:134637 skos:exactMatch UMLS:C1539477 Unspecified FAS +OMIM:134637 skos:exactMatch HGNC:11920 Unspecified FAS +OMIM:134637 skos:exactMatch HGNC_symbol:FAS Unspecified FAS +OMIM:613202 skos:exactMatch HGNC:24353 Unspecified CHTF8 +OMIM:613202 skos:exactMatch HGNC_symbol:CHTF8 Unspecified CHTF8 +OMIM:613202 skos:exactMatch UMLS:C2681361 Unspecified CHTF8 +OMIM:615872 skos:exactMatch UMLS:C4014534 Unspecified ciliary dyskinesia, primary, 29 +OMIM:615873 skos:exactMatch UMLS:C4014538 Unspecified helsmoortel-van der aa syndrome +OMIM:134636 skos:exactMatch HGNC:3785 Unspecified FNTB +OMIM:134636 skos:exactMatch HGNC_symbol:FNTB Unspecified FNTB +OMIM:134636 skos:exactMatch UMLS:C1414658 Unspecified FNTB +OMIM:613201 skos:exactMatch HGNC:18435 Unspecified CHTF18 +OMIM:613201 skos:exactMatch HGNC_symbol:CHTF18 Unspecified CHTF18 +OMIM:613201 skos:exactMatch UMLS:C1425513 Unspecified CHTF18 +OMIM:613211 skos:exactMatch UMLS:C2750771 Unspecified amelogenesis imperfecta, hypomaturation type, iia3 +OMIM:615863 skos:exactMatch UMLS:C4014516 Unspecified diarrhea 7, protein-losing enteropathy iia +OMIM:615864 skos:exactMatch UMLS:C1537615 Unspecified CEP97 +OMIM:615864 skos:exactMatch HGNC:26244 Unspecified CEP97 +OMIM:615864 skos:exactMatch HGNC_symbol:CEP97 Unspecified CEP97 +OMIM:613210 skos:exactMatch UMLS:C1823846 Unspecified DPH7 +OMIM:613210 skos:exactMatch HGNC_symbol:DPH7 Unspecified DPH7 +OMIM:613210 skos:exactMatch HGNC:25199 Unspecified DPH7 +OMIM:615865 skos:exactMatch HGNC:34410 Unspecified NEURL4 +OMIM:615865 skos:exactMatch HGNC_symbol:NEURL4 Unspecified NEURL4 +OMIM:615865 skos:exactMatch UMLS:C2681899 Unspecified NEURL4 +OMIM:615866 skos:exactMatch ORPHA:1465 Unspecified coffin-siris syndrome 9 +OMIM:615866 skos:exactMatch UMLS:C4014528 Unspecified coffin-siris syndrome 9 +OMIM:615867 skos:exactMatch HGNC:21485 Unspecified TBC1D32 +OMIM:615867 skos:exactMatch UMLS:C1427574 Unspecified TBC1D32 +OMIM:615867 skos:exactMatch HGNC_symbol:TBC1D32 Unspecified TBC1D32 +OMIM:615868 skos:exactMatch UMLS:C1539843 Unspecified SPINK6 +OMIM:615868 skos:exactMatch HGNC:29486 Unspecified SPINK6 +OMIM:615868 skos:exactMatch HGNC_symbol:SPINK6 Unspecified SPINK6 +OMIM:615869 skos:exactMatch HGNC_symbol:TNFAIP8L1 Unspecified TNFAIP8L1 +OMIM:615869 skos:exactMatch UMLS:C1823457 Unspecified TNFAIP8L1 +OMIM:615869 skos:exactMatch HGNC:28279 Unspecified TNFAIP8L1 +OMIM:109700 skos:exactMatch UMLS:C1412709 Unspecified B2M +OMIM:109700 skos:exactMatch HGNC_symbol:B2M Unspecified B2M +OMIM:109700 skos:exactMatch HGNC:914 Unspecified B2M +OMIM:603890 skos:exactMatch HGNC_symbol:UBE2L6 Unspecified UBE2L6 +OMIM:603890 skos:exactMatch HGNC:12490 Unspecified UBE2L6 +OMIM:603890 skos:exactMatch UMLS:C1421288 Unspecified UBE2L6 +OMIM:603892 skos:exactMatch HGNC:30858 Unspecified EFTUD2 +OMIM:603892 skos:exactMatch HGNC_symbol:EFTUD2 Unspecified EFTUD2 +OMIM:603892 skos:exactMatch UMLS:C1825036 Unspecified EFTUD2 +OMIM:601230 skos:exactMatch UMLS:C1832586 Unspecified dermatitis herpetiformis, familial +OMIM:603891 skos:exactMatch UMLS:C1414603 Unspecified FGF19 +OMIM:603891 skos:exactMatch HGNC_symbol:FGF19 Unspecified FGF19 +OMIM:603891 skos:exactMatch HGNC:3675 Unspecified FGF19 +OMIM:601231 skos:exactMatch HGNC:3942 Unspecified MTOR +OMIM:601231 skos:exactMatch UMLS:C1414805 Unspecified MTOR +OMIM:601231 skos:exactMatch HGNC_symbol:MTOR Unspecified MTOR +OMIM:601231 skos:exactMatch UMLS:C4479673 Unspecified MTOR +OMIM:601231 skos:exactMatch UMLS:C4225259 Unspecified MTOR +OMIM:603894 skos:exactMatch HGNC_symbol:RGS6 Unspecified RGS6 +OMIM:603894 skos:exactMatch UMLS:C1419376 Unspecified RGS6 +OMIM:603894 skos:exactMatch HGNC:10002 Unspecified RGS6 +OMIM:601232 skos:exactMatch HGNC_symbol:PIK3CG Unspecified PIK3CG +OMIM:601232 skos:exactMatch UMLS:C1335214 Unspecified PIK3CG +OMIM:601232 skos:exactMatch HGNC:8978 Unspecified PIK3CG +OMIM:603893 skos:exactMatch HGNC_symbol:TANK Unspecified TANK +OMIM:603893 skos:exactMatch UMLS:C1823478 Unspecified TANK +OMIM:603893 skos:exactMatch HGNC:11562 Unspecified TANK +OMIM:603874 skos:exactMatch HGNC_symbol:ANGPTL1 Unspecified ANGPTL1 +OMIM:603874 skos:exactMatch HGNC:489 Unspecified ANGPTL1 +OMIM:603874 skos:exactMatch UMLS:C1412399 Unspecified ANGPTL1 +OMIM:601211 skos:exactMatch UMLS:C1332718 Unspecified ADGRE5 +OMIM:601211 skos:exactMatch HGNC_symbol:ADGRE5 Unspecified ADGRE5 +OMIM:601211 skos:exactMatch HGNC:1711 Unspecified ADGRE5 +OMIM:603873 skos:exactMatch HGNC_symbol:PLAA Unspecified PLAA +OMIM:603873 skos:exactMatch UMLS:C1418627 Unspecified PLAA +OMIM:603873 skos:exactMatch HGNC:9043 Unspecified PLAA +OMIM:603873 skos:exactMatch UMLS:C4479631 Unspecified PLAA +OMIM:601212 skos:exactMatch HGNC:9612 Unspecified PTK2B +OMIM:601212 skos:exactMatch UMLS:C1335273 Unspecified PTK2B +OMIM:601212 skos:exactMatch HGNC_symbol:PTK2B Unspecified PTK2B +OMIM:601213 skos:exactMatch HGNC_symbol:ABCE1 Unspecified RNS4I +OMIM:601213 skos:exactMatch HGNC:69 Unspecified RNS4I +OMIM:601213 skos:exactMatch UMLS:C1412092 Unspecified RNS4I +OMIM:603876 skos:exactMatch HGNC:220 Unspecified ADAMTS4 +OMIM:603876 skos:exactMatch HGNC_symbol:ADAMTS4 Unspecified ADAMTS4 +OMIM:603876 skos:exactMatch UMLS:C1412210 Unspecified ADAMTS4 +OMIM:601214 skos:exactMatch UMLS:C1832600 Unspecified naxos disease +OMIM:603875 skos:exactMatch HGNC:11938 Unspecified TNFSF8 +OMIM:603875 skos:exactMatch UMLS:C1420820 Unspecified TNFSF8 +OMIM:603875 skos:exactMatch HGNC_symbol:TNFSF8 Unspecified TNFSF8 +OMIM:601215 skos:exactMatch UMLS:C1332120 Unspecified ATR +OMIM:601215 skos:exactMatch UMLS:C3281203 Unspecified ATR +OMIM:601215 skos:exactMatch HGNC_symbol:ATR Unspecified ATR +OMIM:601215 skos:exactMatch HGNC:882 Unspecified ATR +OMIM:601215 skos:exactMatch UMLS:C4551474 Unspecified ATR +OMIM:603878 skos:exactMatch HGNC_symbol:SLC16A4 Unspecified SLC16A4 +OMIM:603878 skos:exactMatch UMLS:C1420105 Unspecified SLC16A4 +OMIM:603878 skos:exactMatch HGNC:10925 Unspecified SLC16A4 +OMIM:603877 skos:exactMatch UMLS:C1420104 Unspecified SLC16A3 +OMIM:603877 skos:exactMatch HGNC_symbol:SLC16A3 Unspecified SLC16A3 +OMIM:603877 skos:exactMatch HGNC:10924 Unspecified SLC16A3 +OMIM:601216 skos:exactMatch UMLS:C1832594 Unspecified dental anomalies and short stature +OMIM:601217 skos:exactMatch UMLS:C1832593 Unspecified alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism +OMIM:134640 skos:exactMatch HGNC:3556 Unspecified FABP2 +OMIM:134640 skos:exactMatch UMLS:C1333525 Unspecified FABP2 +OMIM:134640 skos:exactMatch HGNC_symbol:FABP2 Unspecified FABP2 +OMIM:603879 skos:exactMatch UMLS:C1420106 Unspecified SLC16A5 +OMIM:603879 skos:exactMatch HGNC_symbol:SLC16A5 Unspecified SLC16A5 +OMIM:603879 skos:exactMatch HGNC:10926 Unspecified SLC16A5 +OMIM:601218 skos:exactMatch UMLS:C5394312 Unspecified ADARB1 +OMIM:601218 skos:exactMatch HGNC_symbol:ADARB1 Unspecified ADARB1 +OMIM:601218 skos:exactMatch HGNC:226 Unspecified ADARB1 +OMIM:601218 skos:exactMatch UMLS:C1412216 Unspecified ADARB1 +OMIM:615860 skos:exactMatch UMLS:C4014501 Unspecified cone-rod dystrophy 19 +OMIM:615861 skos:exactMatch UMLS:C4014507 Unspecified nephrotic syndrome, iia 10 +OMIM:615862 skos:exactMatch UMLS:C3890591 Unspecified nephronophthisis 18 +OMIM:613200 skos:exactMatch HGNC:29088 Unspecified PDS5A +OMIM:613200 skos:exactMatch UMLS:C2239805 Unspecified PDS5A +OMIM:613200 skos:exactMatch HGNC_symbol:PDS5A Unspecified PDS5A +OMIM:615852 skos:exactMatch HGNC_symbol:RAB6B Unspecified RAB6B +OMIM:615852 skos:exactMatch HGNC:14902 Unspecified RAB6B +OMIM:615852 skos:exactMatch UMLS:C1423040 Unspecified RAB6B +OMIM:615853 skos:exactMatch UMLS:C1427155 Unspecified PAOX +OMIM:615853 skos:exactMatch HGNC:20837 Unspecified PAOX +OMIM:615853 skos:exactMatch HGNC_symbol:PAOX Unspecified PAOX +OMIM:615854 skos:exactMatch UMLS:C1423784 Unspecified SMOX +OMIM:615854 skos:exactMatch HGNC:15862 Unspecified SMOX +OMIM:615854 skos:exactMatch HGNC_symbol:SMOX Unspecified SMOX +OMIM:615855 skos:exactMatch HGNC:24099 Unspecified TMTC1 +OMIM:615855 skos:exactMatch HGNC_symbol:TMTC1 Unspecified TMTC1 +OMIM:615855 skos:exactMatch UMLS:C1823451 Unspecified TMTC1 +OMIM:615856 skos:exactMatch HGNC:25440 Unspecified TMTC2 +OMIM:615856 skos:exactMatch HGNC_symbol:TMTC2 Unspecified TMTC2 +OMIM:615856 skos:exactMatch UMLS:C1823452 Unspecified TMTC2 +OMIM:615857 skos:exactMatch HGNC:25585 Unspecified OGFOD1 +OMIM:615857 skos:exactMatch UMLS:C1826509 Unspecified OGFOD1 +OMIM:615857 skos:exactMatch HGNC_symbol:OGFOD1 Unspecified OGFOD1 +OMIM:615858 skos:exactMatch HGNC:25642 Unspecified RSBN1 +OMIM:615858 skos:exactMatch UMLS:C1539705 Unspecified RSBN1 +OMIM:615858 skos:exactMatch HGNC_symbol:RSBN1 Unspecified RSBN1 +OMIM:615859 skos:exactMatch UMLS:C4014492 Unspecified developmental and epileptic encephalopathy 23 +OMIM:615859 skos:exactMatch ORPHA:411986 Unspecified developmental and epileptic encephalopathy 23 +OMIM:109710 skos:exactMatch UMLS:C1412710 Unspecified B2MR +OMIM:109710 skos:exactMatch HGNC_symbol:B2MR Unspecified B2MR +OMIM:109710 skos:exactMatch HGNC:915 Unspecified B2MR +OMIM:603881 skos:exactMatch UMLS:C1417827 Unspecified NR1I3 +OMIM:603881 skos:exactMatch HGNC_symbol:NR1I3 Unspecified NR1I3 +OMIM:603881 skos:exactMatch HGNC:7969 Unspecified NR1I3 +OMIM:109715 skos:exactMatch HGNC:5217 Unspecified HSD3B1 +OMIM:109715 skos:exactMatch HGNC_symbol:HSD3B1 Unspecified HSD3B1 +OMIM:109715 skos:exactMatch UMLS:C1415742 Unspecified HSD3B1 +OMIM:603880 skos:exactMatch HGNC:10927 Unspecified SLC16A6 +OMIM:603880 skos:exactMatch UMLS:C1420107 Unspecified SLC16A6 +OMIM:603880 skos:exactMatch HGNC_symbol:SLC16A6 Unspecified SLC16A6 +OMIM:603883 skos:exactMatch HGNC:939 Unspecified BAG3 +OMIM:603883 skos:exactMatch HGNC_symbol:BAG3 Unspecified BAG3 +OMIM:603883 skos:exactMatch UMLS:C1412731 Unspecified BAG3 +OMIM:601220 skos:exactMatch UMLS:C1832592 Unspecified osteoporosis and oculocutaneous hypopigmentation syndrome +OMIM:601221 skos:exactMatch UMLS:C1832591 Unspecified tissue-specific extinguisher 3 +OMIM:603882 skos:exactMatch HGNC_symbol:BAG2 Unspecified BAG2 +OMIM:603882 skos:exactMatch HGNC:938 Unspecified BAG2 +OMIM:603882 skos:exactMatch UMLS:C1412730 Unspecified BAG2 +OMIM:601200 skos:exactMatch UMLS:C1266144 Unspecified pleuropulmonary blastoma +OMIM:603863 skos:exactMatch HGNC_symbol:RNF7 Unspecified RNF7 +OMIM:603863 skos:exactMatch UMLS:C1419428 Unspecified RNF7 +OMIM:603863 skos:exactMatch HGNC:10070 Unspecified RNF7 +OMIM:603862 skos:exactMatch HGNC_symbol:CCNT2 Unspecified CCNT2 +OMIM:603862 skos:exactMatch HGNC:1600 Unspecified CCNT2 +OMIM:603862 skos:exactMatch UMLS:C1413186 Unspecified CCNT2 +OMIM:601201 skos:exactMatch UMLS:C1832610 Unspecified None +OMIM:601202 skos:exactMatch UMLS:C1832609 Unspecified cataract 24 +OMIM:603865 skos:exactMatch HGNC_symbol:GFPT2 Unspecified GFPT2 +OMIM:603865 skos:exactMatch HGNC:4242 Unspecified GFPT2 +OMIM:603865 skos:exactMatch UMLS:C1415047 Unspecified GFPT2 +OMIM:603864 skos:exactMatch HGNC_symbol:CCS Unspecified CCS +OMIM:603864 skos:exactMatch UMLS:C1413192 Unspecified CCS +OMIM:603864 skos:exactMatch HGNC:1613 Unspecified CCS +OMIM:601203 skos:exactMatch HGNC:5998 Unspecified IL1RL1 +OMIM:601203 skos:exactMatch UMLS:C1416400 Unspecified IL1RL1 +OMIM:601203 skos:exactMatch HGNC_symbol:IL1RL1 Unspecified IL1RL1 +OMIM:603867 skos:exactMatch UMLS:C1418472 Unspecified PEX11B +OMIM:603867 skos:exactMatch UMLS:C3554055 Unspecified PEX11B +OMIM:603867 skos:exactMatch HGNC_symbol:PEX11B Unspecified PEX11B +OMIM:603867 skos:exactMatch HGNC:8853 Unspecified PEX11B +OMIM:601204 skos:exactMatch UMLS:C1419069 Unspecified PTGFRN +OMIM:601204 skos:exactMatch HGNC:9601 Unspecified PTGFRN +OMIM:601204 skos:exactMatch HGNC_symbol:PTGFRN Unspecified PTGFRN +OMIM:603866 skos:exactMatch UMLS:C1418471 Unspecified PEX11A +OMIM:603866 skos:exactMatch HGNC_symbol:PEX11A Unspecified PEX11A +OMIM:603866 skos:exactMatch HGNC:8852 Unspecified PEX11A +OMIM:601205 skos:exactMatch UMLS:C1420072 Unspecified SIX1 +OMIM:601205 skos:exactMatch HGNC:10887 Unspecified SIX1 +OMIM:601205 skos:exactMatch HGNC_symbol:SIX1 Unspecified SIX1 +OMIM:601206 skos:exactMatch HGNC_symbol:POU2AF1 Unspecified POU2AF1 +OMIM:601206 skos:exactMatch UMLS:C1418760 Unspecified POU2AF1 +OMIM:601206 skos:exactMatch HGNC:9211 Unspecified POU2AF1 +OMIM:134651 skos:exactMatch HGNC:3557 Unspecified FABP3 +OMIM:134651 skos:exactMatch HGNC_symbol:FABP3 Unspecified FABP3 +OMIM:134651 skos:exactMatch UMLS:C1333526 Unspecified FABP3 +OMIM:603869 skos:exactMatch UMLS:C1419196 Unspecified RAB27B +OMIM:603869 skos:exactMatch HGNC:9767 Unspecified RAB27B +OMIM:603869 skos:exactMatch HGNC_symbol:RAB27B Unspecified RAB27B +OMIM:603868 skos:exactMatch UMLS:C1419195 Unspecified RAB27A +OMIM:603868 skos:exactMatch HGNC:9766 Unspecified RAB27A +OMIM:603868 skos:exactMatch HGNC_symbol:RAB27A Unspecified RAB27A +OMIM:134650 skos:exactMatch HGNC:3555 Unspecified FABP1 +OMIM:134650 skos:exactMatch HGNC_symbol:FABP1 Unspecified FABP1 +OMIM:134650 skos:exactMatch UMLS:C1333524 Unspecified FABP1 +OMIM:601207 skos:exactMatch UMLS:C1414036 Unspecified DGKQ +OMIM:601207 skos:exactMatch HGNC_symbol:DGKQ Unspecified DGKQ +OMIM:601207 skos:exactMatch HGNC:2856 Unspecified DGKQ +OMIM:601208 skos:exactMatch UMLS:C1832605 Unspecified iia 1 diabetes mellitus 11 +OMIM:601209 skos:exactMatch HGNC_symbol:PCBP1 Unspecified PCBP1 +OMIM:601209 skos:exactMatch HGNC:8647 Unspecified PCBP1 +OMIM:601209 skos:exactMatch UMLS:C1418297 Unspecified PCBP1 +OMIM:615850 skos:exactMatch HGNC_symbol:VPS53 Unspecified VPS53 +OMIM:615850 skos:exactMatch UMLS:C1823644 Unspecified VPS53 +OMIM:615850 skos:exactMatch HGNC:25608 Unspecified VPS53 +OMIM:615851 skos:exactMatch UMLS:C4014488 Unspecified pontocerebellar hypoplasia, iia 2e +OMIM:615841 skos:exactMatch UMLS:C4014449 Unspecified spermatogenic failure 13 +OMIM:615842 skos:exactMatch UMLS:C4014454 Unspecified spermatogenic failure 14 +OMIM:615843 skos:exactMatch UMLS:C1539265 Unspecified DEGS1 +OMIM:615843 skos:exactMatch HGNC_symbol:DEGS1 Unspecified DEGS1 +OMIM:615843 skos:exactMatch HGNC:13709 Unspecified DEGS1 +OMIM:615843 skos:exactMatch UMLS:C5193078 Unspecified DEGS1 +OMIM:615844 skos:exactMatch HGNC:24552 Unspecified TKFC +OMIM:615844 skos:exactMatch UMLS:C1824882 Unspecified TKFC +OMIM:615844 skos:exactMatch HGNC_symbol:TKFC Unspecified TKFC +OMIM:615844 skos:exactMatch UMLS:C5394125 Unspecified TKFC +OMIM:146631 skos:exactMatch HGNC_symbol:ICAM3 Unspecified ICAM3 +OMIM:146631 skos:exactMatch UMLS:C1334076 Unspecified ICAM3 +OMIM:146631 skos:exactMatch HGNC:5346 Unspecified ICAM3 +OMIM:615845 skos:exactMatch UMLS:C3470964 Unspecified MIR190A +OMIM:615845 skos:exactMatch HGNC_symbol:MIR190A Unspecified MIR190A +OMIM:615845 skos:exactMatch HGNC:31560 Unspecified MIR190A +OMIM:615846 skos:exactMatch UMLS:C3888244 Unspecified aicardi-goutieres syndrome 7 +OMIM:615847 skos:exactMatch HGNC_symbol:CEP83 Unspecified CEP83 +OMIM:615847 skos:exactMatch UMLS:C3890591 Unspecified CEP83 +OMIM:615847 skos:exactMatch UMLS:C1824565 Unspecified CEP83 +OMIM:615847 skos:exactMatch HGNC:17966 Unspecified CEP83 +OMIM:146630 skos:exactMatch HGNC_symbol:ICAM2 Unspecified ICAM2 +OMIM:146630 skos:exactMatch UMLS:C1334075 Unspecified ICAM2 +OMIM:146630 skos:exactMatch HGNC:5345 Unspecified ICAM2 +OMIM:615848 skos:exactMatch UMLS:C4014476 Unspecified melanoma, cutaneous malignant, susceptibility to, 10 +OMIM:615849 skos:exactMatch UMLS:C4014479 Unspecified culler-jones syndrome +OMIM:603870 skos:exactMatch HGNC:1537 Unspecified CBFA2T3 +OMIM:603870 skos:exactMatch UMLS:C1413149 Unspecified CBFA2T3 +OMIM:603870 skos:exactMatch HGNC_symbol:CBFA2T3 Unspecified CBFA2T3 +OMIM:603872 skos:exactMatch UMLS:C1421164 Unspecified TROAP +OMIM:603872 skos:exactMatch HGNC_symbol:TROAP Unspecified TROAP +OMIM:603872 skos:exactMatch HGNC:12327 Unspecified TROAP +OMIM:601210 skos:exactMatch HGNC_symbol:PCBP2 Unspecified PCBP2 +OMIM:601210 skos:exactMatch HGNC:8648 Unspecified PCBP2 +OMIM:601210 skos:exactMatch UMLS:C1418298 Unspecified PCBP2 +OMIM:603871 skos:exactMatch HGNC_symbol:BYSL Unspecified BYSL +OMIM:603871 skos:exactMatch HGNC:1157 Unspecified BYSL +OMIM:603871 skos:exactMatch UMLS:C1412858 Unspecified BYSL +OMIM:134660 skos:exactMatch HGNC_symbol:GSTP1 Unspecified GSTP1 +OMIM:134660 skos:exactMatch UMLS:C0919451 Unspecified GSTP1 +OMIM:134660 skos:exactMatch HGNC:4638 Unspecified GSTP1 +OMIM:134660 skos:exactMatch UMLS:C1415339 Unspecified GSTP1 +OMIM:603852 skos:exactMatch HGNC:12386 Unspecified TSSC4 +OMIM:603852 skos:exactMatch HGNC_symbol:TSSC4 Unspecified TSSC4 +OMIM:603852 skos:exactMatch UMLS:C1336686 Unspecified TSSC4 +OMIM:603851 skos:exactMatch UMLS:C1418697 Unspecified PHOX2B +OMIM:603851 skos:exactMatch UMLS:C2751682 Unspecified PHOX2B +OMIM:603851 skos:exactMatch UMLS:C2751683 Unspecified PHOX2B +OMIM:603851 skos:exactMatch HGNC:9143 Unspecified PHOX2B +OMIM:603851 skos:exactMatch UMLS:C1275808 Unspecified PHOX2B +OMIM:603851 skos:exactMatch HGNC_symbol:PHOX2B Unspecified PHOX2B +OMIM:603851 skos:exactMatch UMLS:C1859049 Unspecified PHOX2B +OMIM:603851 skos:exactMatch UMLS:C1859050 Unspecified PHOX2B +OMIM:603854 skos:exactMatch HGNC:13727 Unspecified RANBP9 +OMIM:603854 skos:exactMatch UMLS:C1422166 Unspecified RANBP9 +OMIM:603854 skos:exactMatch HGNC_symbol:RANBP9 Unspecified RANBP9 +OMIM:603853 skos:exactMatch HGNC:13410 Unspecified TSPAN32 +OMIM:603853 skos:exactMatch UMLS:C1335209 Unspecified TSPAN32 +OMIM:603853 skos:exactMatch HGNC_symbol:TSPAN32 Unspecified TSPAN32 +OMIM:603856 skos:exactMatch UMLS:C1417179 Unspecified MKRN3 +OMIM:603856 skos:exactMatch HGNC_symbol:MKRN3 Unspecified MKRN3 +OMIM:603856 skos:exactMatch HGNC:7114 Unspecified MKRN3 +OMIM:603855 skos:exactMatch UMLS:C3276246 Unspecified cystic fibrosis, modifier of, 1 +OMIM:603855 skos:exactMatch UMLS:C1859047 Unspecified cystic fibrosis, modifier of, 1 +OMIM:132000 skos:exactMatch UMLS:C0268371 Unspecified epidermolysis bullosa with congenital localized absence of skin and deformity of nails +OMIM:603857 skos:exactMatch UMLS:C1421618 Unspecified MKRN3AS +OMIM:603859 skos:exactMatch HGNC_symbol:SLC25A13 Unspecified SLC25A13 +OMIM:603859 skos:exactMatch UMLS:C1420154 Unspecified SLC25A13 +OMIM:603859 skos:exactMatch HGNC:10983 Unspecified SLC25A13 +OMIM:615840 skos:exactMatch HGNC_symbol:DCTPP1 Unspecified DCTPP1 +OMIM:615840 skos:exactMatch HGNC:28777 Unspecified DCTPP1 +OMIM:615840 skos:exactMatch UMLS:C2681404 Unspecified DCTPP1 +OMIM:615830 skos:exactMatch ORPHA:189439 Unspecified pigmented nodular adrenocortical disease, primary, 4 +OMIM:615830 skos:exactMatch UMLS:C4014425 Unspecified pigmented nodular adrenocortical disease, primary, 4 +OMIM:615831 skos:exactMatch HGNC_symbol:LYRM7 Unspecified LYRM7 +OMIM:615831 skos:exactMatch UMLS:C1825926 Unspecified LYRM7 +OMIM:615831 skos:exactMatch HGNC:28072 Unspecified LYRM7 +OMIM:615832 skos:exactMatch HGNC:37269 Unspecified UBE2QL1 +OMIM:615832 skos:exactMatch UMLS:C2828998 Unspecified UBE2QL1 +OMIM:615832 skos:exactMatch HGNC_symbol:UBE2QL1 Unspecified UBE2QL1 +OMIM:615833 skos:exactMatch ORPHA:442835 Unspecified developmental and epileptic encephalopathy 21 +OMIM:615833 skos:exactMatch UMLS:C4014430 Unspecified developmental and epileptic encephalopathy 21 +OMIM:615834 skos:exactMatch UMLS:C4014435 Unspecified intellectual developmental disorder, autosomal dominant 26 +OMIM:615835 skos:exactMatch UMLS:C4014436 Unspecified chromosome 16 inversion, 0.45-mb +OMIM:615836 skos:exactMatch UMLS:C1425129 Unspecified STK38L +OMIM:615836 skos:exactMatch HGNC_symbol:STK38L Unspecified STK38L +OMIM:615836 skos:exactMatch HGNC:17848 Unspecified STK38L +OMIM:146640 skos:exactMatch UMLS:C1416507 Unspecified ITIH2 +OMIM:146640 skos:exactMatch HGNC_symbol:ITIH2 Unspecified ITIH2 +OMIM:146640 skos:exactMatch HGNC:6167 Unspecified ITIH2 +OMIM:615837 skos:exactMatch UMLS:C3892049 Unspecified deafness, autosomal recessive 101 +OMIM:615838 skos:exactMatch UMLS:C4014440 Unspecified mitochondrial complex 3 deficiency, nuclear iia 8 +OMIM:615839 skos:exactMatch UMLS:C1413970 Unspecified DECR2 +OMIM:615839 skos:exactMatch HGNC_symbol:DECR2 Unspecified DECR2 +OMIM:615839 skos:exactMatch HGNC:2754 Unspecified DECR2 +OMIM:603861 skos:exactMatch UMLS:C1420156 Unspecified SLC25A15 +OMIM:603861 skos:exactMatch HGNC:10985 Unspecified SLC25A15 +OMIM:603861 skos:exactMatch HGNC_symbol:SLC25A15 Unspecified SLC25A15 +OMIM:601266 skos:exactMatch UMLS:C1414193 Unspecified DUT +OMIM:601266 skos:exactMatch HGNC_symbol:DUT Unspecified DUT +OMIM:601266 skos:exactMatch HGNC:3078 Unspecified DUT +OMIM:601267 skos:exactMatch HGNC_symbol:CCR2 Unspecified CCR2 +OMIM:601267 skos:exactMatch UMLS:C1413188 Unspecified CCR2 +OMIM:601267 skos:exactMatch HGNC:1603 Unspecified CCR2 +OMIM:601268 skos:exactMatch HGNC_symbol:CCR3 Unspecified CCR3 +OMIM:601268 skos:exactMatch HGNC:1604 Unspecified CCR3 +OMIM:601268 skos:exactMatch UMLS:C1413189 Unspecified CCR3 +OMIM:601269 skos:exactMatch HGNC:1243 Unspecified C1QBP +OMIM:601269 skos:exactMatch UMLS:C1412933 Unspecified C1QBP +OMIM:601269 skos:exactMatch HGNC_symbol:C1QBP Unspecified C1QBP +OMIM:183600 skos:exactMatch ORPHA:2440 Unspecified split-hand/foot malformation 1 +OMIM:183600 skos:exactMatch UMLS:C2931019 Unspecified split-hand/foot malformation 1 +OMIM:613249 skos:exactMatch UMLS:C2750469 Unspecified EBLN1 +OMIM:613249 skos:exactMatch HGNC:39430 Unspecified EBLN1 +OMIM:613249 skos:exactMatch HGNC_symbol:EBLN1 Unspecified EBLN1 +OMIM:613248 skos:exactMatch HGNC:33196 Unspecified PLIN5 +OMIM:613248 skos:exactMatch UMLS:C2750470 Unspecified PLIN5 +OMIM:613248 skos:exactMatch HGNC_symbol:PLIN5 Unspecified PLIN5 +OMIM:613247 skos:exactMatch HGNC:29393 Unspecified PLIN4 +OMIM:613247 skos:exactMatch UMLS:C1428852 Unspecified PLIN4 +OMIM:613247 skos:exactMatch HGNC_symbol:PLIN4 Unspecified PLIN4 +OMIM:613246 skos:exactMatch HGNC:9286 Unspecified PPP1R1A +OMIM:613246 skos:exactMatch UMLS:C1418824 Unspecified PPP1R1A +OMIM:613246 skos:exactMatch HGNC_symbol:PPP1R1A Unspecified PPP1R1A +OMIM:613245 skos:exactMatch UMLS:C1423078 Unspecified PPP1R12C +OMIM:613245 skos:exactMatch HGNC:14947 Unspecified PPP1R12C +OMIM:613245 skos:exactMatch HGNC_symbol:PPP1R12C Unspecified PPP1R12C +OMIM:613255 skos:exactMatch UMLS:C2750459 Unspecified cardiomyopathy, familial hypertrophic, 15 +OMIM:146650 skos:exactMatch HGNC_symbol:ITIH3 Unspecified ITIH3 +OMIM:146650 skos:exactMatch HGNC:6168 Unspecified ITIH3 +OMIM:146650 skos:exactMatch UMLS:C1416508 Unspecified ITIH3 +OMIM:613254 skos:exactMatch UMLS:C1860707 Unspecified tuberous sclerosis 2 +OMIM:613254 skos:exactMatch UMLS:C2750460 Unspecified tuberous sclerosis 2 +OMIM:613252 skos:exactMatch UMLS:C2750466 Unspecified cardiomyopathy, dilated, 1ee +OMIM:613251 skos:exactMatch UMLS:C2750467 Unspecified cardiomyopathy, familial hypertrophic, 14 +OMIM:613250 skos:exactMatch HGNC_symbol:EBLN2 Unspecified EBLN2 +OMIM:613250 skos:exactMatch HGNC:25493 Unspecified EBLN2 +OMIM:613250 skos:exactMatch UMLS:C2750468 Unspecified EBLN2 +OMIM:601270 skos:exactMatch UMLS:C1413889 Unspecified CYP4F3 +OMIM:601270 skos:exactMatch HGNC:2646 Unspecified CYP4F3 +OMIM:601270 skos:exactMatch HGNC_symbol:CYP4F3 Unspecified CYP4F3 +OMIM:601271 skos:exactMatch HGNC_symbol:GUCA2B Unspecified GUCA2B +OMIM:601271 skos:exactMatch HGNC:4683 Unspecified GUCA2B +OMIM:601271 skos:exactMatch UMLS:C1415358 Unspecified GUCA2B +OMIM:601272 skos:exactMatch HGNC_symbol:SNX1 Unspecified SNX1 +OMIM:601272 skos:exactMatch HGNC:11172 Unspecified SNX1 +OMIM:601272 skos:exactMatch UMLS:C1420300 Unspecified SNX1 +OMIM:601273 skos:exactMatch UMLS:C1413513 Unspecified CLTCL1 +OMIM:601273 skos:exactMatch HGNC:2093 Unspecified CLTCL1 +OMIM:601273 skos:exactMatch HGNC_symbol:CLTCL1 Unspecified CLTCL1 +OMIM:601274 skos:exactMatch UMLS:C1425510 Unspecified PTGR1 +OMIM:601274 skos:exactMatch HGNC_symbol:PTGR1 Unspecified PTGR1 +OMIM:601274 skos:exactMatch HGNC:18429 Unspecified PTGR1 +OMIM:601275 skos:exactMatch HGNC_symbol:GPM6A Unspecified GPM6A +OMIM:601275 skos:exactMatch HGNC:4460 Unspecified GPM6A +OMIM:601275 skos:exactMatch UMLS:C1415203 Unspecified GPM6A +OMIM:601276 skos:exactMatch HGNC:12966 Unspecified ZNF177 +OMIM:601276 skos:exactMatch HGNC_symbol:ZNF177 Unspecified ZNF177 +OMIM:601276 skos:exactMatch UMLS:C1421665 Unspecified ZNF177 +OMIM:601255 skos:exactMatch UMLS:C3280168 Unspecified KIF1A +OMIM:601255 skos:exactMatch UMLS:C5235139 Unspecified KIF1A +OMIM:601255 skos:exactMatch HGNC:888 Unspecified KIF1A +OMIM:601255 skos:exactMatch HGNC_symbol:KIF1A Unspecified KIF1A +OMIM:601255 skos:exactMatch UMLS:C1835896 Unspecified KIF1A +OMIM:601255 skos:exactMatch UMLS:C1412698 Unspecified KIF1A +OMIM:601255 skos:exactMatch UMLS:C5393830 Unspecified KIF1A +OMIM:601257 skos:exactMatch HGNC_symbol:DDX1 Unspecified DDX1 +OMIM:601257 skos:exactMatch HGNC:2734 Unspecified DDX1 +OMIM:601257 skos:exactMatch UMLS:C1333209 Unspecified DDX1 +OMIM:601258 skos:exactMatch HGNC:2634 Unspecified CYP2J2 +OMIM:601258 skos:exactMatch HGNC_symbol:CYP2J2 Unspecified CYP2J2 +OMIM:601258 skos:exactMatch UMLS:C1413880 Unspecified CYP2J2 +OMIM:601259 skos:exactMatch HGNC:452 Unspecified AMBN +OMIM:601259 skos:exactMatch UMLS:C1412375 Unspecified AMBN +OMIM:601259 skos:exactMatch HGNC_symbol:AMBN Unspecified AMBN +OMIM:613239 skos:exactMatch UMLS:C2750473 Unspecified thyrotoxic periodic paralysis, susceptibility to, 2 +OMIM:613238 skos:exactMatch UMLS:C2750474 Unspecified spondyloarthropathy, susceptibility to, 3 +OMIM:613237 skos:exactMatch UMLS:C2750475 Unspecified focal segmental glomerulosclerosis 5 +OMIM:613236 skos:exactMatch UMLS:C2750476 Unspecified KCNJ18 +OMIM:613236 skos:exactMatch HGNC:39080 Unspecified KCNJ18 +OMIM:613236 skos:exactMatch HGNC_symbol:KCNJ18 Unspecified KCNJ18 +OMIM:613235 skos:exactMatch UMLS:C2750481 Unspecified factor xiii, B subunit, deficiency of +OMIM:613234 skos:exactMatch HGNC:29260 Unspecified NCEH1 +OMIM:613234 skos:exactMatch HGNC_symbol:NCEH1 Unspecified NCEH1 +OMIM:613234 skos:exactMatch UMLS:C1538892 Unspecified NCEH1 +OMIM:613244 skos:exactMatch UMLS:C2750471 Unspecified colorectal cancer, hereditary nonpolyposis, iia 8 +OMIM:615896 skos:exactMatch UMLS:C4014616 Unspecified hypotrichosis 13 +OMIM:146660 skos:exactMatch HGNC_symbol:IL7 Unspecified IL7 +OMIM:146660 skos:exactMatch UMLS:C1334124 Unspecified IL7 +OMIM:146660 skos:exactMatch HGNC:6023 Unspecified IL7 +OMIM:146661 skos:exactMatch UMLS:C1334123 Unspecified IL7R +OMIM:146661 skos:exactMatch HGNC:6024 Unspecified IL7R +OMIM:146661 skos:exactMatch HGNC_symbol:IL7R Unspecified IL7R +OMIM:146661 skos:exactMatch UMLS:C4015968 Unspecified IL7R +OMIM:146661 skos:exactMatch UMLS:C1837028 Unspecified IL7R +OMIM:615897 skos:exactMatch UMLS:C4014617 Unspecified immunodeficiency 24 +OMIM:613243 skos:exactMatch UMLS:C2750472 Unspecified cardiomyopathy, familial hypertrophic, 13 +OMIM:613242 skos:exactMatch HGNC:14952 Unspecified PPP1R14C +OMIM:613242 skos:exactMatch UMLS:C1423082 Unspecified PPP1R14C +OMIM:613242 skos:exactMatch HGNC_symbol:PPP1R14C Unspecified PPP1R14C +OMIM:615898 skos:exactMatch HGNC:28816 Unspecified NDUFAF7 +OMIM:615898 skos:exactMatch HGNC_symbol:NDUFAF7 Unspecified NDUFAF7 +OMIM:615898 skos:exactMatch UMLS:C2240250 Unspecified NDUFAF7 +OMIM:613241 skos:exactMatch UMLS:C3150463 Unspecified pseudopili annulati +OMIM:615899 skos:exactMatch HGNC:27270 Unspecified OLFML2A +OMIM:615899 skos:exactMatch UMLS:C1538534 Unspecified OLFML2A +OMIM:615899 skos:exactMatch HGNC_symbol:OLFML2A Unspecified OLFML2A +OMIM:613240 skos:exactMatch HGNC:14940 Unspecified PPP1R1C +OMIM:613240 skos:exactMatch UMLS:C1423071 Unspecified PPP1R1C +OMIM:613240 skos:exactMatch HGNC_symbol:PPP1R1C Unspecified PPP1R1C +OMIM:254450 skos:exactMatch UMLS:C0026987 Unspecified myelofibrosis +OMIM:254450 skos:exactMatch ORPHA:824 Unspecified myelofibrosis +OMIM:601260 skos:exactMatch HGNC:13101 Unspecified ZKSCAN1 +OMIM:601260 skos:exactMatch UMLS:C1538174 Unspecified ZKSCAN1 +OMIM:601260 skos:exactMatch HGNC_symbol:ZKSCAN1 Unspecified ZKSCAN1 +OMIM:601261 skos:exactMatch HGNC:13104 Unspecified ZSCAN21 +OMIM:601261 skos:exactMatch HGNC_symbol:ZSCAN21 Unspecified ZSCAN21 +OMIM:601261 skos:exactMatch UMLS:C1824083 Unspecified ZSCAN21 +OMIM:601262 skos:exactMatch HGNC:12947 Unspecified ZNF16 +OMIM:601262 skos:exactMatch UMLS:C1421649 Unspecified ZNF16 +OMIM:601262 skos:exactMatch HGNC_symbol:ZNF16 Unspecified ZNF16 +OMIM:601263 skos:exactMatch HGNC:6842 Unspecified MAP2K2 +OMIM:601263 skos:exactMatch HGNC_symbol:MAP2K2 Unspecified MAP2K2 +OMIM:601263 skos:exactMatch UMLS:C1456385 Unspecified MAP2K2 +OMIM:601265 skos:exactMatch HGNC_symbol:NODAL Unspecified NODAL +OMIM:601265 skos:exactMatch HGNC:7865 Unspecified NODAL +OMIM:601265 skos:exactMatch UMLS:C1417752 Unspecified NODAL +OMIM:601244 skos:exactMatch UMLS:C1415359 Unspecified GUCY1A2 +OMIM:601244 skos:exactMatch HGNC_symbol:GUCY1A2 Unspecified GUCY1A2 +OMIM:601244 skos:exactMatch HGNC:4684 Unspecified GUCY1A2 +OMIM:601245 skos:exactMatch HGNC_symbol:CHAF1B Unspecified CHAF1B +OMIM:601245 skos:exactMatch UMLS:C1413375 Unspecified CHAF1B +OMIM:601245 skos:exactMatch HGNC:1911 Unspecified CHAF1B +OMIM:601246 skos:exactMatch HGNC:1910 Unspecified CHAF1A +OMIM:601246 skos:exactMatch UMLS:C1413374 Unspecified CHAF1A +OMIM:601246 skos:exactMatch HGNC_symbol:CHAF1A Unspecified CHAF1A +OMIM:601247 skos:exactMatch UMLS:C1420315 Unspecified SOS2 +OMIM:601247 skos:exactMatch HGNC_symbol:SOS2 Unspecified SOS2 +OMIM:601247 skos:exactMatch HGNC:11188 Unspecified SOS2 +OMIM:156000 skos:exactMatch UMLS:C0025281 Unspecified meniere disease +OMIM:134690 skos:exactMatch HGNC:3597 Unspecified FAU +OMIM:134690 skos:exactMatch HGNC_symbol:FAU Unspecified FAU +OMIM:134690 skos:exactMatch UMLS:C1414536 Unspecified FAU +OMIM:601248 skos:exactMatch HGNC:1052 Unspecified BIN1 +OMIM:601248 skos:exactMatch HGNC_symbol:BIN1 Unspecified BIN1 +OMIM:601248 skos:exactMatch UMLS:C0410204 Unspecified BIN1 +OMIM:601248 skos:exactMatch UMLS:C1332412 Unspecified BIN1 +OMIM:303800 skos:exactMatch UMLS:C3887938 Unspecified colorblindness, partial, deutan series +OMIM:303800 skos:exactMatch UMLS:C0155016 Unspecified colorblindness, partial, deutan series +OMIM:601249 skos:exactMatch UMLS:C1418958 Unspecified PRPSAP1 +OMIM:601249 skos:exactMatch HGNC:9466 Unspecified PRPSAP1 +OMIM:601249 skos:exactMatch HGNC_symbol:PRPSAP1 Unspecified PRPSAP1 +OMIM:613229 skos:exactMatch UMLS:C0040953 Unspecified trichotillomania +OMIM:613228 skos:exactMatch HGNC:318 Unspecified AGA +OMIM:613228 skos:exactMatch HGNC_symbol:AGA Unspecified AGA +OMIM:613228 skos:exactMatch UMLS:C1412276 Unspecified AGA +OMIM:615890 skos:exactMatch HGNC_symbol:DYNC1LI1 Unspecified DYNC1LI1 +OMIM:615890 skos:exactMatch UMLS:C1825008 Unspecified DYNC1LI1 +OMIM:615890 skos:exactMatch HGNC:18745 Unspecified DYNC1LI1 +OMIM:615891 skos:exactMatch HGNC:24094 Unspecified ZBTB8OS +OMIM:615891 skos:exactMatch UMLS:C1538146 Unspecified ZBTB8OS +OMIM:615891 skos:exactMatch HGNC_symbol:ZBTB8OS Unspecified ZBTB8OS +OMIM:613227 skos:exactMatch UMLS:C2750509 Unspecified cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 +OMIM:613226 skos:exactMatch HGNC_symbol:ZNF296 Unspecified ZNF296 +OMIM:613226 skos:exactMatch HGNC:15981 Unspecified ZNF296 +OMIM:613226 skos:exactMatch UMLS:C0964742 Unspecified ZNF296 +OMIM:615892 skos:exactMatch UMLS:C4014596 Unspecified orofacial cleft 14 +OMIM:615893 skos:exactMatch UMLS:C2681897 Unspecified NEURL1B +OMIM:615893 skos:exactMatch HGNC_symbol:NEURL1B Unspecified NEURL1B +OMIM:615893 skos:exactMatch HGNC:35422 Unspecified NEURL1B +OMIM:613225 skos:exactMatch UMLS:C2750514 Unspecified factor xiii, a subunit, deficiency of +OMIM:615894 skos:exactMatch UMLS:C1426519 Unspecified ZNF407 +OMIM:615894 skos:exactMatch HGNC:19904 Unspecified ZNF407 +OMIM:615894 skos:exactMatch HGNC_symbol:ZNF407 Unspecified ZNF407 +OMIM:613224 skos:exactMatch UMLS:C2750732 Unspecified noonan syndrome 6 +OMIM:615895 skos:exactMatch UMLS:C4014605 Unspecified polyglucosan body myopathy 1 with or without immunodeficiency +OMIM:613223 skos:exactMatch UMLS:C2750733 Unspecified leprosy, susceptibility to, 5 +OMIM:613223 skos:exactMatch UMLS:C2750734 Unspecified leprosy, susceptibility to, 5 +OMIM:613233 skos:exactMatch UMLS:C2750485 Unspecified fasting plasma glucose level quantitative trait locus 3 +OMIM:615885 skos:exactMatch UMLS:C4014563 Unspecified hypotrichosis 12 +OMIM:613232 skos:exactMatch HGNC:28117 Unspecified RBM42 +OMIM:613232 skos:exactMatch HGNC_symbol:RBM42 Unspecified RBM42 +OMIM:613232 skos:exactMatch UMLS:C2239872 Unspecified RBM42 +OMIM:615886 skos:exactMatch HGNC:32554 Unspecified FAM83G +OMIM:615886 skos:exactMatch HGNC_symbol:FAM83G Unspecified FAM83G +OMIM:615886 skos:exactMatch UMLS:C1825167 Unspecified FAM83G +OMIM:615887 skos:exactMatch UMLS:C4014578 Unspecified amelogenesis imperfecta, hypomaturation type, iia5 +OMIM:144010 skos:exactMatch UMLS:C3888316 Unspecified hypercholesterolemia, familial, 2 +OMIM:144010 skos:exactMatch ORPHA:391665 Unspecified hypercholesterolemia, familial, 2 +OMIM:144010 skos:exactMatch UMLS:C1704417 Unspecified hypercholesterolemia, familial, 2 +OMIM:613231 skos:exactMatch HGNC:20226 Unspecified KIF26A +OMIM:613231 skos:exactMatch UMLS:C1426789 Unspecified KIF26A +OMIM:613231 skos:exactMatch HGNC_symbol:KIF26A Unspecified KIF26A +OMIM:615888 skos:exactMatch UMLS:C4014584 Unspecified bleeding disorder, platelet-type, 18 +OMIM:613230 skos:exactMatch HGNC:8840 Unspecified PEPD +OMIM:613230 skos:exactMatch HGNC_symbol:PEPD Unspecified PEPD +OMIM:613230 skos:exactMatch UMLS:C1418462 Unspecified PEPD +OMIM:615889 skos:exactMatch UMLS:C4014588 Unspecified leukoencephalopathy, progressive, with ovarian failure +OMIM:601250 skos:exactMatch HGNC_symbol:MSRA Unspecified MSRA +OMIM:601250 skos:exactMatch HGNC:7377 Unspecified MSRA +OMIM:601250 skos:exactMatch UMLS:C1417375 Unspecified MSRA +OMIM:601252 skos:exactMatch UMLS:C1414559 Unspecified FCN1 +OMIM:601252 skos:exactMatch HGNC_symbol:FCN1 Unspecified FCN1 +OMIM:601252 skos:exactMatch HGNC:3623 Unspecified FCN1 +OMIM:601253 skos:exactMatch HGNC:1529 Unspecified CAV3 +OMIM:601253 skos:exactMatch UMLS:C1413146 Unspecified CAV3 +OMIM:601253 skos:exactMatch HGNC_symbol:CAV3 Unspecified CAV3 +OMIM:601254 skos:exactMatch UMLS:C1334475 Unspecified MAP2K6 +OMIM:601254 skos:exactMatch HGNC:6846 Unspecified MAP2K6 +OMIM:601254 skos:exactMatch HGNC_symbol:MAP2K6 Unspecified MAP2K6 +OMIM:603896 skos:exactMatch UMLS:C1847967 Unspecified leukoencephalopathy with vanishing white matter +OMIM:603896 skos:exactMatch UMLS:C1858991 Unspecified leukoencephalopathy with vanishing white matter +OMIM:601233 skos:exactMatch UMLS:C1416438 Unspecified INHBC +OMIM:601233 skos:exactMatch HGNC_symbol:INHBC Unspecified INHBC +OMIM:601233 skos:exactMatch HGNC:6068 Unspecified INHBC +OMIM:603895 skos:exactMatch HGNC_symbol:RGS11 Unspecified RGS11 +OMIM:603895 skos:exactMatch HGNC:9993 Unspecified RGS11 +OMIM:603895 skos:exactMatch UMLS:C1419369 Unspecified RGS11 +OMIM:601234 skos:exactMatch UMLS:C1417590 Unspecified NACA +OMIM:601234 skos:exactMatch HGNC:7629 Unspecified NACA +OMIM:601234 skos:exactMatch HGNC_symbol:NACA Unspecified NACA +OMIM:603898 skos:exactMatch HGNC:11932 Unspecified TNFSF18 +OMIM:603898 skos:exactMatch HGNC_symbol:TNFSF18 Unspecified TNFSF18 +OMIM:603898 skos:exactMatch UMLS:C1420818 Unspecified TNFSF18 +OMIM:601235 skos:exactMatch HGNC:2735 Unspecified DDX10 +OMIM:601235 skos:exactMatch HGNC_symbol:DDX10 Unspecified DDX10 +OMIM:601235 skos:exactMatch UMLS:C1413952 Unspecified DDX10 +OMIM:603897 skos:exactMatch HGNC_symbol:MATN4 Unspecified MATN4 +OMIM:603897 skos:exactMatch HGNC:6910 Unspecified MATN4 +OMIM:603897 skos:exactMatch UMLS:C1417044 Unspecified MATN4 +OMIM:601236 skos:exactMatch HGNC_symbol:DAB2 Unspecified DAB2 +OMIM:601236 skos:exactMatch HGNC:2662 Unspecified DAB2 +OMIM:601236 skos:exactMatch UMLS:C1333202 Unspecified DAB2 +OMIM:158650 skos:exactMatch UMLS:C1834689 Unspecified muscular atrophy, malignant neurogenic +OMIM:601237 skos:exactMatch HGNC:12968 Unspecified RNF112 +OMIM:601237 skos:exactMatch HGNC_symbol:RNF112 Unspecified RNF112 +OMIM:601237 skos:exactMatch UMLS:C1421667 Unspecified RNF112 +OMIM:266400 skos:exactMatch UMLS:C1849450 Unspecified reese retinal dysplasia +OMIM:603899 skos:exactMatch UMLS:C1421843 Unspecified ZNF85 +OMIM:603899 skos:exactMatch HGNC_symbol:ZNF85 Unspecified ZNF85 +OMIM:603899 skos:exactMatch HGNC:13160 Unspecified ZNF85 +OMIM:601238 skos:exactMatch UMLS:C1832585 Unspecified cerebellar ataxia, cayman iia +OMIM:601239 skos:exactMatch HGNC:3057 Unspecified DTNA +OMIM:601239 skos:exactMatch UMLS:C1414176 Unspecified DTNA +OMIM:601239 skos:exactMatch HGNC_symbol:DTNA Unspecified DTNA +OMIM:613219 skos:exactMatch UMLS:C3150459 Unspecified fasting plasma glucose level quantitative trait locus 2 +OMIM:613219 skos:exactMatch UMLS:C2750735 Unspecified fasting plasma glucose level quantitative trait locus 2 +OMIM:613218 skos:exactMatch HGNC_symbol:CYB5A Unspecified CYB5A +OMIM:613218 skos:exactMatch HGNC:2570 Unspecified CYB5A +OMIM:613218 skos:exactMatch UMLS:C1824837 Unspecified CYB5A +OMIM:613217 skos:exactMatch UMLS:C2750737 Unspecified diarrhea 5, with tufting enteropathy, congenital +OMIM:613216 skos:exactMatch UMLS:C2750747 Unspecified night blindness, congenital stationary, iia 1c +OMIM:615880 skos:exactMatch HGNC_symbol:ARHGAP39 Unspecified ARHGAP39 +OMIM:615880 skos:exactMatch UMLS:C2828633 Unspecified ARHGAP39 +OMIM:615880 skos:exactMatch HGNC:29351 Unspecified ARHGAP39 +OMIM:613215 skos:exactMatch UMLS:C3808300 Unspecified chromosome 17p13.3, centromeric, duplication syndrome +OMIM:615881 skos:exactMatch UMLS:C4014553 Unspecified plasma triglyceride level quantitative trait locus +OMIM:613214 skos:exactMatch HGNC_symbol:WDR72 Unspecified WDR72 +OMIM:613214 skos:exactMatch UMLS:C1823836 Unspecified WDR72 +OMIM:613214 skos:exactMatch HGNC:26790 Unspecified WDR72 +OMIM:146690 skos:exactMatch UMLS:C1416427 Unspecified IMPDH1 +OMIM:146690 skos:exactMatch UMLS:C1840285 Unspecified IMPDH1 +OMIM:146690 skos:exactMatch HGNC_symbol:IMPDH1 Unspecified IMPDH1 +OMIM:146690 skos:exactMatch HGNC:6052 Unspecified IMPDH1 +OMIM:615882 skos:exactMatch UMLS:C1424782 Unspecified RABGAP1 +OMIM:615882 skos:exactMatch HGNC:17155 Unspecified RABGAP1 +OMIM:615882 skos:exactMatch HGNC_symbol:RABGAP1 Unspecified RABGAP1 +OMIM:613213 skos:exactMatch HGNC_symbol:CYB5R3 Unspecified CYB5R3 +OMIM:613213 skos:exactMatch HGNC:2873 Unspecified CYB5R3 +OMIM:613213 skos:exactMatch UMLS:C1824843 Unspecified CYB5R3 +OMIM:615883 skos:exactMatch UMLS:C4014557 Unspecified myopathy, tubular aggregate, 2 +OMIM:613212 skos:exactMatch HGNC_symbol:AARSD1 Unspecified AARSD1 +OMIM:613212 skos:exactMatch UMLS:C1825491 Unspecified AARSD1 +OMIM:613212 skos:exactMatch HGNC:28417 Unspecified AARSD1 +OMIM:615884 skos:exactMatch UMLS:C1421897 Unspecified APMAP +OMIM:615884 skos:exactMatch HGNC:13238 Unspecified APMAP +OMIM:615884 skos:exactMatch HGNC_symbol:APMAP Unspecified APMAP +OMIM:613222 skos:exactMatch HGNC:21526 Unspecified GNPDA2 +OMIM:613222 skos:exactMatch UMLS:C1427589 Unspecified GNPDA2 +OMIM:613222 skos:exactMatch HGNC_symbol:GNPDA2 Unspecified GNPDA2 +OMIM:615874 skos:exactMatch HGNC_symbol:RSL1D1 Unspecified RSL1D1 +OMIM:615874 skos:exactMatch UMLS:C1539707 Unspecified RSL1D1 +OMIM:615874 skos:exactMatch HGNC:24534 Unspecified RSL1D1 +OMIM:613221 skos:exactMatch HGNC:17587 Unspecified MTCH2 +OMIM:613221 skos:exactMatch UMLS:C1425005 Unspecified MTCH2 +OMIM:613221 skos:exactMatch HGNC_symbol:MTCH2 Unspecified MTCH2 +OMIM:615875 skos:exactMatch HGNC:21393 Unspecified RWDD3 +OMIM:615875 skos:exactMatch UMLS:C1427538 Unspecified RWDD3 +OMIM:615875 skos:exactMatch HGNC_symbol:RWDD3 Unspecified RWDD3 +OMIM:146680 skos:exactMatch HGNC:5381 Unspecified IDE +OMIM:146680 skos:exactMatch UMLS:C1415875 Unspecified IDE +OMIM:146680 skos:exactMatch HGNC_symbol:IDE Unspecified IDE +OMIM:613220 skos:exactMatch UMLS:C1428462 Unspecified TMEM18 +OMIM:613220 skos:exactMatch HGNC_symbol:TMEM18 Unspecified TMEM18 +OMIM:613220 skos:exactMatch HGNC:25257 Unspecified TMEM18 +OMIM:615876 skos:exactMatch HGNC:21054 Unspecified RSPH3 +OMIM:615876 skos:exactMatch UMLS:C1427276 Unspecified RSPH3 +OMIM:615876 skos:exactMatch HGNC_symbol:RSPH3 Unspecified RSPH3 +OMIM:144020 skos:exactMatch UMLS:C1840430 Unspecified hypercholesterolemia suppressor +OMIM:615877 skos:exactMatch UMLS:C4014540 Unspecified microphthalmia/coloboma and skeletal dysplasia syndrome +OMIM:615878 skos:exactMatch UMLS:C2931067 Unspecified cholestasis, progressive familial intrahepatic, 4 +OMIM:615879 skos:exactMatch UMLS:C4014545 Unspecified tatton-brown-rahman syndrome +OMIM:615879 skos:exactMatch ORPHA:404443 Unspecified tatton-brown-rahman syndrome +OMIM:601240 skos:exactMatch UMLS:C0574080 Unspecified GAMT +OMIM:601240 skos:exactMatch UMLS:C1414963 Unspecified GAMT +OMIM:601240 skos:exactMatch HGNC_symbol:GAMT Unspecified GAMT +OMIM:601240 skos:exactMatch HGNC:4136 Unspecified GAMT +OMIM:601241 skos:exactMatch UMLS:C1333891 Unspecified HDAC1 +OMIM:601241 skos:exactMatch HGNC_symbol:HDAC1 Unspecified HDAC1 +OMIM:601241 skos:exactMatch HGNC:4852 Unspecified HDAC1 +OMIM:601242 skos:exactMatch HGNC_symbol:MAP1LC3A Unspecified MAP1LC3A +OMIM:601242 skos:exactMatch UMLS:C1417005 Unspecified MAP1LC3A +OMIM:601242 skos:exactMatch HGNC:6838 Unspecified MAP1LC3A +OMIM:601243 skos:exactMatch UMLS:C1336659 Unspecified TOP3A +OMIM:601243 skos:exactMatch HGNC_symbol:TOP3A Unspecified TOP3A +OMIM:601243 skos:exactMatch HGNC:11992 Unspecified TOP3A +OMIM:301200 skos:exactMatch UMLS:C1845052 Unspecified amelogenesis imperfecta, iia 1e +OMIM:301200 skos:exactMatch UMLS:C1845053 Unspecified amelogenesis imperfecta, iia 1e +OMIM:301201 skos:exactMatch UMLS:C1845051 Unspecified amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 +OMIM:168000 skos:exactMatch UMLS:C0030421 Unspecified paragangliomas 1 +OMIM:168000 skos:exactMatch UMLS:C1868633 Unspecified paragangliomas 1 +OMIM:168000 skos:exactMatch UMLS:C0007279 Unspecified paragangliomas 1 +OMIM:613289 skos:exactMatch UMLS:C1825849 Unspecified ATXN8 +OMIM:613289 skos:exactMatch HGNC_symbol:ATXN8 Unspecified ATXN8 +OMIM:613289 skos:exactMatch HGNC:32925 Unspecified ATXN8 +OMIM:613299 skos:exactMatch HGNC:19367 Unspecified FAM13A +OMIM:613299 skos:exactMatch UMLS:C1426195 Unspecified FAM13A +OMIM:613299 skos:exactMatch HGNC_symbol:FAM13A Unspecified FAM13A +OMIM:613298 skos:exactMatch HGNC_symbol:TICRR Unspecified TICRR +OMIM:613298 skos:exactMatch UMLS:C1824406 Unspecified TICRR +OMIM:613298 skos:exactMatch HGNC:28704 Unspecified TICRR +OMIM:171650 skos:exactMatch HGNC:123 Unspecified ACP2 +OMIM:171650 skos:exactMatch HGNC_symbol:ACP2 Unspecified ACP2 +OMIM:171650 skos:exactMatch UMLS:C1412132 Unspecified ACP2 +OMIM:146691 skos:exactMatch UMLS:C1416428 Unspecified IMPDH2 +OMIM:146691 skos:exactMatch HGNC_symbol:IMPDH2 Unspecified IMPDH2 +OMIM:146691 skos:exactMatch HGNC:6053 Unspecified IMPDH2 +OMIM:613297 skos:exactMatch UMLS:C1537661 Unspecified MARCHF6 +OMIM:613297 skos:exactMatch HGNC_symbol:MARCHF6 Unspecified MARCHF6 +OMIM:613297 skos:exactMatch HGNC:30550 Unspecified MARCHF6 +OMIM:613296 skos:exactMatch UMLS:C1422129 Unspecified LAPTM4B +OMIM:613296 skos:exactMatch HGNC_symbol:LAPTM4B Unspecified LAPTM4B +OMIM:613296 skos:exactMatch HGNC:13646 Unspecified LAPTM4B +OMIM:613295 skos:exactMatch HGNC_symbol:UBA2 Unspecified UBA2 +OMIM:613295 skos:exactMatch UMLS:C1826967 Unspecified UBA2 +OMIM:613295 skos:exactMatch HGNC:30661 Unspecified UBA2 +OMIM:613294 skos:exactMatch UMLS:C1826966 Unspecified SAE1 +OMIM:613294 skos:exactMatch HGNC_symbol:SAE1 Unspecified SAE1 +OMIM:613294 skos:exactMatch HGNC:30660 Unspecified SAE1 +OMIM:613293 skos:exactMatch HGNC_symbol:SH3PXD2B Unspecified SH3PXD2B +OMIM:613293 skos:exactMatch HGNC:29242 Unspecified SH3PXD2B +OMIM:613293 skos:exactMatch UMLS:C1822712 Unspecified SH3PXD2B +OMIM:613292 skos:exactMatch UMLS:C1824907 Unspecified DENND1B +OMIM:613292 skos:exactMatch HGNC:28404 Unspecified DENND1B +OMIM:613292 skos:exactMatch HGNC_symbol:DENND1B Unspecified DENND1B +OMIM:613291 skos:exactMatch UMLS:C2750087 Unspecified bile acid malabsorption, primary, 1 +OMIM:613290 skos:exactMatch UMLS:C2750088 Unspecified hearing loss, cisplatin-induced, susceptibility to +OMIM:254400 skos:exactMatch UMLS:C0026948 Unspecified mycosis fungoides +OMIM:601299 skos:exactMatch UMLS:C1332430 Unspecified BMPR1A +OMIM:601299 skos:exactMatch HGNC_symbol:BMPR1A Unspecified BMPR1A +OMIM:601299 skos:exactMatch HGNC:1076 Unspecified BMPR1A +OMIM:613279 skos:exactMatch UMLS:C1823929 Unspecified None +OMIM:613279 skos:exactMatch HGNC_symbol:ZC3H14 Unspecified None +OMIM:613279 skos:exactMatch HGNC:20509 Unspecified None +OMIM:144050 skos:exactMatch UMLS:C3203346 Unspecified hyperheparinemia +OMIM:613278 skos:exactMatch HGNC_symbol:SLX4 Unspecified SLX4 +OMIM:613278 skos:exactMatch HGNC:23845 Unspecified SLX4 +OMIM:613278 skos:exactMatch UMLS:C1428293 Unspecified SLX4 +OMIM:613288 skos:exactMatch HGNC_symbol:TRIM72 Unspecified TRIM72 +OMIM:613288 skos:exactMatch UMLS:C1823493 Unspecified TRIM72 +OMIM:613288 skos:exactMatch HGNC:32671 Unspecified TRIM72 +OMIM:613287 skos:exactMatch UMLS:C2750090 Unspecified charcot-marie-tooth disease, axonal, iia 2n +OMIM:613286 skos:exactMatch UMLS:C2750091 Unspecified cardiomyopathy, dilated, 1ff +OMIM:613285 skos:exactMatch UMLS:C1414017 Unspecified deafness, autosomal recessive 25 +OMIM:613284 skos:exactMatch UMLS:C2750092 Unspecified hematocrit/hemoglobin quantitative trait locus 3 +OMIM:613283 skos:exactMatch HGNC_symbol:GRXCR1 Unspecified GRXCR1 +OMIM:613283 skos:exactMatch HGNC:31673 Unspecified GRXCR1 +OMIM:613283 skos:exactMatch UMLS:C2681555 Unspecified GRXCR1 +OMIM:613282 skos:exactMatch UMLS:C2750441 Unspecified fatty liver disease, nonalcoholic, susceptibility to, 1 +OMIM:613282 skos:exactMatch UMLS:C2750440 Unspecified fatty liver disease, nonalcoholic, susceptibility to, 1 +OMIM:171640 skos:exactMatch HGNC:124 Unspecified ACP5 +OMIM:171640 skos:exactMatch HGNC_symbol:ACP5 Unspecified ACP5 +OMIM:171640 skos:exactMatch UMLS:C1412133 Unspecified ACP5 +OMIM:613281 skos:exactMatch UMLS:C2680431 Unspecified SNX20 +OMIM:613281 skos:exactMatch HGNC:30390 Unspecified SNX20 +OMIM:613281 skos:exactMatch HGNC_symbol:SNX20 Unspecified SNX20 +OMIM:613280 skos:exactMatch UMLS:C2750442 Unspecified hypermanganesemia with dystonia 1 +OMIM:613280 skos:exactMatch ORPHA:309854 Unspecified hypermanganesemia with dystonia 1 +OMIM:601288 skos:exactMatch HGNC:12855 Unspecified YWHAZ +OMIM:601288 skos:exactMatch HGNC_symbol:YWHAZ Unspecified YWHAZ +OMIM:601288 skos:exactMatch UMLS:C4015968 Unspecified YWHAZ +OMIM:601288 skos:exactMatch UMLS:C1421564 Unspecified YWHAZ +OMIM:601289 skos:exactMatch HGNC:12849 Unspecified YWHAB +OMIM:601289 skos:exactMatch HGNC_symbol:YWHAB Unspecified YWHAB +OMIM:601289 skos:exactMatch UMLS:C1421558 Unspecified YWHAB +OMIM:242400 skos:exactMatch UMLS:C0400974 Unspecified ichthyosis congenita with biliary atresia +OMIM:613269 skos:exactMatch UMLS:C2750449 Unspecified corneal dystrophy, fuchs endothelial, 5 +OMIM:613268 skos:exactMatch UMLS:C2750450 Unspecified corneal dystrophy, fuchs endothelial, 4 +OMIM:613267 skos:exactMatch UMLS:C2750451 Unspecified corneal dystrophy, fuchs endothelial, 3 +OMIM:613277 skos:exactMatch HGNC:25018 Unspecified TMEM216 +OMIM:613277 skos:exactMatch HGNC_symbol:TMEM216 Unspecified TMEM216 +OMIM:613277 skos:exactMatch UMLS:C2680482 Unspecified TMEM216 +OMIM:613276 skos:exactMatch HGNC_symbol:USB1 Unspecified USB1 +OMIM:613276 skos:exactMatch HGNC:25792 Unspecified USB1 +OMIM:613276 skos:exactMatch UMLS:C1824414 Unspecified USB1 +OMIM:613275 skos:exactMatch UMLS:C1423772 Unspecified PPP1R16B +OMIM:613275 skos:exactMatch HGNC_symbol:PPP1R16B Unspecified PPP1R16B +OMIM:613275 skos:exactMatch HGNC:15850 Unspecified PPP1R16B +OMIM:613274 skos:exactMatch HGNC:18234 Unspecified MOCOS +OMIM:613274 skos:exactMatch HGNC_symbol:MOCOS Unspecified MOCOS +OMIM:613274 skos:exactMatch UMLS:C1425386 Unspecified MOCOS +OMIM:230450 skos:exactMatch UMLS:C1856603 Unspecified gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to +OMIM:613273 skos:exactMatch HGNC_symbol:INIP Unspecified INIP +OMIM:613273 skos:exactMatch HGNC:24994 Unspecified INIP +OMIM:613273 skos:exactMatch UMLS:C1428437 Unspecified INIP +OMIM:613272 skos:exactMatch HGNC:21305 Unspecified KCTD3 +OMIM:613272 skos:exactMatch UMLS:C1427482 Unspecified KCTD3 +OMIM:613272 skos:exactMatch HGNC_symbol:KCTD3 Unspecified KCTD3 +OMIM:613271 skos:exactMatch UMLS:C2750447 Unspecified corneal dystrophy, fuchs endothelial, 7 +OMIM:601290 skos:exactMatch HGNC:10773 Unspecified SFN +OMIM:601290 skos:exactMatch UMLS:C1335813 Unspecified SFN +OMIM:601290 skos:exactMatch HGNC_symbol:SFN Unspecified SFN +OMIM:613270 skos:exactMatch UMLS:C2750448 Unspecified corneal dystrophy, fuchs endothelial, 6 +OMIM:601291 skos:exactMatch HGNC:12555 Unspecified UGT8 +OMIM:601291 skos:exactMatch UMLS:C1421347 Unspecified UGT8 +OMIM:601291 skos:exactMatch HGNC_symbol:UGT8 Unspecified UGT8 +OMIM:601292 skos:exactMatch HGNC:11454 Unspecified SULT1A2 +OMIM:601292 skos:exactMatch HGNC_symbol:SULT1A2 Unspecified SULT1A2 +OMIM:601292 skos:exactMatch UMLS:C1420515 Unspecified SULT1A2 +OMIM:601293 skos:exactMatch UMLS:C1419384 Unspecified RHEB +OMIM:601293 skos:exactMatch HGNC:10011 Unspecified RHEB +OMIM:601293 skos:exactMatch HGNC_symbol:RHEB Unspecified RHEB +OMIM:601295 skos:exactMatch HGNC_symbol:SLC10A2 Unspecified SLC10A2 +OMIM:601295 skos:exactMatch UMLS:C1420087 Unspecified SLC10A2 +OMIM:601295 skos:exactMatch HGNC:10906 Unspecified SLC10A2 +OMIM:601296 skos:exactMatch UMLS:C1367702 Unspecified MUSK +OMIM:601296 skos:exactMatch HGNC:7525 Unspecified MUSK +OMIM:601296 skos:exactMatch HGNC_symbol:MUSK Unspecified MUSK +OMIM:601297 skos:exactMatch HGNC:11196 Unspecified SOX15 +OMIM:601297 skos:exactMatch UMLS:C1420323 Unspecified SOX15 +OMIM:601297 skos:exactMatch HGNC_symbol:SOX15 Unspecified SOX15 +OMIM:601277 skos:exactMatch UMLS:C1832550 Unspecified ichthyosis, congenital, autosomal recessive 4a +OMIM:601278 skos:exactMatch HGNC_symbol:FRG1 Unspecified FRG1 +OMIM:601278 skos:exactMatch UMLS:C1414815 Unspecified FRG1 +OMIM:601278 skos:exactMatch HGNC:3954 Unspecified FRG1 +OMIM:601279 skos:exactMatch HGNC:2846 Unspecified DGCR6 +OMIM:601279 skos:exactMatch HGNC_symbol:DGCR6 Unspecified DGCR6 +OMIM:601279 skos:exactMatch UMLS:C1414027 Unspecified DGCR6 +OMIM:613259 skos:exactMatch HGNC:26809 Unspecified RPTN +OMIM:613259 skos:exactMatch HGNC_symbol:RPTN Unspecified RPTN +OMIM:613259 skos:exactMatch UMLS:C1826941 Unspecified RPTN +OMIM:613258 skos:exactMatch HGNC_symbol:C18orf54 Unspecified C18ORF54 +OMIM:613258 skos:exactMatch HGNC:13796 Unspecified C18ORF54 +OMIM:613258 skos:exactMatch UMLS:C1540278 Unspecified C18ORF54 +OMIM:613257 skos:exactMatch UMLS:C1423081 Unspecified PPP1R15B +OMIM:613257 skos:exactMatch HGNC:14951 Unspecified PPP1R15B +OMIM:613257 skos:exactMatch HGNC_symbol:PPP1R15B Unspecified PPP1R15B +OMIM:613256 skos:exactMatch HGNC:14953 Unspecified PPP1R14D +OMIM:613256 skos:exactMatch UMLS:C1423083 Unspecified PPP1R14D +OMIM:613256 skos:exactMatch HGNC_symbol:PPP1R14D Unspecified PPP1R14D +OMIM:613266 skos:exactMatch UMLS:C2750452 Unspecified waardenburg syndrome, iia 4c +OMIM:171660 skos:exactMatch UMLS:C1876163 Unspecified phosphatase, acid, of tissues +OMIM:613265 skos:exactMatch UMLS:C2750457 Unspecified waardenburg syndrome, iia 4b +OMIM:613264 skos:exactMatch UMLS:C1822956 Unspecified SNORD50B +OMIM:613264 skos:exactMatch HGNC_symbol:SNORD50B Unspecified SNORD50B +OMIM:613264 skos:exactMatch HGNC:32722 Unspecified SNORD50B +OMIM:613263 skos:exactMatch UMLS:C1822800 Unspecified SNHG5 +OMIM:613263 skos:exactMatch HGNC:21026 Unspecified SNHG5 +OMIM:613263 skos:exactMatch HGNC_symbol:SNHG5 Unspecified SNHG5 +OMIM:613262 skos:exactMatch UMLS:C1425543 Unspecified RSL24D1 +OMIM:613262 skos:exactMatch HGNC:18479 Unspecified RSL24D1 +OMIM:613262 skos:exactMatch HGNC_symbol:RSL24D1 Unspecified RSL24D1 +OMIM:613261 skos:exactMatch HGNC:26373 Unspecified PRTG +OMIM:613261 skos:exactMatch UMLS:C1826726 Unspecified PRTG +OMIM:613261 skos:exactMatch HGNC_symbol:PRTG Unspecified PRTG +OMIM:613260 skos:exactMatch HGNC:31823 Unspecified KPRP +OMIM:613260 skos:exactMatch HGNC_symbol:KPRP Unspecified KPRP +OMIM:613260 skos:exactMatch UMLS:C1825736 Unspecified KPRP +OMIM:601280 skos:exactMatch HGNC_symbol:MAB21L1 Unspecified MAB21L1 +OMIM:601280 skos:exactMatch HGNC:6757 Unspecified MAB21L1 +OMIM:601280 skos:exactMatch UMLS:C1416954 Unspecified MAB21L1 +OMIM:601281 skos:exactMatch UMLS:C1419943 Unspecified SEMA3B +OMIM:601281 skos:exactMatch HGNC:10724 Unspecified SEMA3B +OMIM:601281 skos:exactMatch HGNC_symbol:SEMA3B Unspecified SEMA3B +OMIM:601282 skos:exactMatch UMLS:C1418643 Unspecified PLEC +OMIM:601282 skos:exactMatch HGNC_symbol:PLEC Unspecified PLEC +OMIM:601282 skos:exactMatch HGNC:9069 Unspecified PLEC +OMIM:601283 skos:exactMatch UMLS:C1832544 Unspecified iia 2 diabetes mellitus 1 +OMIM:601284 skos:exactMatch UMLS:C1832529 Unspecified ACVRL1 +OMIM:601284 skos:exactMatch UMLS:C1838163 Unspecified ACVRL1 +OMIM:601284 skos:exactMatch HGNC_symbol:ACVRL1 Unspecified ACVRL1 +OMIM:601284 skos:exactMatch HGNC:175 Unspecified ACVRL1 +OMIM:601284 skos:exactMatch UMLS:C1366767 Unspecified ACVRL1 +OMIM:601285 skos:exactMatch UMLS:C1832527 Unspecified SEM1 +OMIM:601285 skos:exactMatch HGNC:10845 Unspecified SEM1 +OMIM:601285 skos:exactMatch HGNC_symbol:SEM1 Unspecified SEM1 +OMIM:132090 skos:exactMatch UMLS:C1851549 Unspecified epilepsy, benign occipital +OMIM:601287 skos:exactMatch UMLS:C1832525 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 6 +OMIM:158370 skos:exactMatch HGNC_symbol:MUC2 Unspecified MUC2 +OMIM:158370 skos:exactMatch HGNC:7512 Unspecified MUC2 +OMIM:158370 skos:exactMatch UMLS:C1417494 Unspecified MUC2 +OMIM:158372 skos:exactMatch HGNC_symbol:MUC4 Unspecified MUC4 +OMIM:158372 skos:exactMatch HGNC:7514 Unspecified MUC4 +OMIM:158372 skos:exactMatch UMLS:C1417496 Unspecified MUC4 +OMIM:158371 skos:exactMatch HGNC:7513 Unspecified MUC3A +OMIM:158371 skos:exactMatch UMLS:C1417495 Unspecified MUC3A +OMIM:158371 skos:exactMatch HGNC_symbol:MUC3A Unspecified MUC3A +OMIM:146390 skos:exactMatch UMLS:C0432442 Unspecified chromosome 18p deletion syndrome +OMIM:205200 skos:exactMatch UMLS:C1859806 Unspecified amyotrophic lateral sclerosis, juvenile, with dementia +OMIM:232800 skos:exactMatch UMLS:C0017926 Unspecified glycogen storage disease 7 +OMIM:217200 skos:exactMatch UMLS:C1857575 Unspecified convulsive disorder, familial, with prenatal or early onset +OMIM:183300 skos:exactMatch UMLS:C1866745 Unspecified splenogonadal fusion with limb defects and micrognathia +OMIM:158374 skos:exactMatch HGNC_symbol:MUC6 Unspecified MUC6 +OMIM:158374 skos:exactMatch HGNC:7517 Unspecified MUC6 +OMIM:158374 skos:exactMatch UMLS:C1417499 Unspecified MUC6 +OMIM:158373 skos:exactMatch HGNC_symbol:MUC5AC Unspecified MUC5AC +OMIM:158373 skos:exactMatch HGNC:7515 Unspecified MUC5AC +OMIM:158373 skos:exactMatch UMLS:C1417497 Unspecified MUC5AC +OMIM:158375 skos:exactMatch HGNC_symbol:MUC7 Unspecified MUC7 +OMIM:158375 skos:exactMatch HGNC:7518 Unspecified MUC7 +OMIM:158375 skos:exactMatch UMLS:C1417500 Unspecified MUC7 +OMIM:158378 skos:exactMatch HGNC_symbol:SLC20A2 Unspecified SLC20A2 +OMIM:158378 skos:exactMatch UMLS:C1420126 Unspecified SLC20A2 +OMIM:158378 skos:exactMatch HGNC:10947 Unspecified SLC20A2 +OMIM:158381 skos:exactMatch UMLS:C1333363 Unspecified EVI2B +OMIM:158381 skos:exactMatch HGNC_symbol:EVI2B Unspecified EVI2B +OMIM:158381 skos:exactMatch HGNC:3500 Unspecified EVI2B +OMIM:158380 skos:exactMatch HGNC_symbol:EVI2A Unspecified EVI2A +OMIM:158380 skos:exactMatch HGNC:3499 Unspecified EVI2A +OMIM:158380 skos:exactMatch UMLS:C1414480 Unspecified EVI2A +OMIM:219800 skos:exactMatch UMLS:C2749685 Unspecified cystinosis, nephropathic +OMIM:219800 skos:exactMatch UMLS:C3537440 Unspecified cystinosis, nephropathic +OMIM:219800 skos:exactMatch UMLS:C2931187 Unspecified cystinosis, nephropathic +OMIM:110350 skos:exactMatch UMLS:C1862248 Unspecified blood group--ahonen +OMIM:183350 skos:exactMatch UMLS:C1866744 Unspecified splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells +OMIM:109350 skos:exactMatch UMLS:C0017168 Unspecified gastroesophageal reflux +OMIM:301065 skos:exactMatch HGNC:18283 Unspecified RAB40A +OMIM:301065 skos:exactMatch HGNC_symbol:RAB40A Unspecified RAB40A +OMIM:301067 skos:exactMatch HGNC:25301 Unspecified FAM47C +OMIM:301067 skos:exactMatch HGNC_symbol:FAM47C Unspecified FAM47C +OMIM:301070 skos:exactMatch HGNC:30512 Unspecified WDR44 +OMIM:301070 skos:exactMatch HGNC_symbol:WDR44 Unspecified WDR44 +OMIM:301073 skos:exactMatch HGNC_symbol:ATP1B4 Unspecified ATP1B4 +OMIM:301073 skos:exactMatch HGNC:808 Unspecified ATP1B4 +OMIM:110310 skos:exactMatch UMLS:C1862249 Unspecified blood group--abh antigen, iia 2 +OMIM:207800 skos:exactMatch ORPHA:90 Unspecified argininemia +OMIM:207800 skos:exactMatch UMLS:C0268548 Unspecified argininemia +OMIM:124950 skos:exactMatch UMLS:C1852280 Unspecified deafness, sensorineural, with peripheral neuropathy and arterial disease +OMIM:110300 skos:exactMatch HGNC_symbol:ABO Unspecified ABO +OMIM:110300 skos:exactMatch HGNC:79 Unspecified ABO +OMIM:110300 skos:exactMatch UMLS:C1412099 Unspecified ABO +OMIM:254190 skos:exactMatch UMLS:C1850806 Unspecified myasthenia, congenital, refractory to acetylcholinesterase inhibitors +OMIM:109300 skos:exactMatch UMLS:C1862319 Unspecified banki syndrome +OMIM:278150 skos:exactMatch UMLS:C3279470 Unspecified hypotrichosis 8 +OMIM:278150 skos:exactMatch UMLS:C1848435 Unspecified hypotrichosis 8 +OMIM:603962 skos:exactMatch UMLS:C1419283 Unspecified RASGRP1 +OMIM:603962 skos:exactMatch HGNC_symbol:RASGRP1 Unspecified RASGRP1 +OMIM:603962 skos:exactMatch HGNC:9878 Unspecified RASGRP1 +OMIM:601300 skos:exactMatch UMLS:C1332011 Unspecified ACVR1B +OMIM:601300 skos:exactMatch HGNC_symbol:ACVR1B Unspecified ACVR1B +OMIM:601300 skos:exactMatch HGNC:172 Unspecified ACVR1B +OMIM:603961 skos:exactMatch UMLS:C4016867 Unspecified SEMA3A +OMIM:603961 skos:exactMatch UMLS:C1419942 Unspecified SEMA3A +OMIM:603961 skos:exactMatch HGNC:10723 Unspecified SEMA3A +OMIM:603961 skos:exactMatch HGNC_symbol:SEMA3A Unspecified SEMA3A +OMIM:601301 skos:exactMatch UMLS:C1418800 Unspecified PPIL1 +OMIM:601301 skos:exactMatch HGNC_symbol:PPIL1 Unspecified PPIL1 +OMIM:601301 skos:exactMatch HGNC:9260 Unspecified PPIL1 +OMIM:603964 skos:exactMatch UMLS:C1858916 Unspecified deafness, autosomal dominant 16 +OMIM:603963 skos:exactMatch HGNC_symbol:ITGA9 Unspecified ITGA9 +OMIM:603963 skos:exactMatch HGNC:6145 Unspecified ITGA9 +OMIM:603963 skos:exactMatch UMLS:C1416491 Unspecified ITGA9 +OMIM:601302 skos:exactMatch HGNC_symbol:PPP3R1 Unspecified PPP3R1 +OMIM:601302 skos:exactMatch UMLS:C1418848 Unspecified PPP3R1 +OMIM:601302 skos:exactMatch HGNC:9317 Unspecified PPP3R1 +OMIM:603966 skos:exactMatch UMLS:C1412326 Unspecified AKR1C3 +OMIM:603966 skos:exactMatch HGNC_symbol:AKR1C3 Unspecified AKR1C3 +OMIM:603966 skos:exactMatch HGNC:386 Unspecified AKR1C3 +OMIM:601303 skos:exactMatch HGNC:1989 Unspecified CKAP1 +OMIM:601303 skos:exactMatch HGNC_symbol:TBCB Unspecified CKAP1 +OMIM:601303 skos:exactMatch UMLS:C1823247 Unspecified CKAP1 +OMIM:603965 skos:exactMatch UMLS:C1858915 Unspecified focal segmental glomerulosclerosis 2 +OMIM:601304 skos:exactMatch HGNC_symbol:SNU13 Unspecified SNU13 +OMIM:601304 skos:exactMatch HGNC:7819 Unspecified SNU13 +OMIM:601304 skos:exactMatch UMLS:C1417724 Unspecified SNU13 +OMIM:603968 skos:exactMatch UMLS:C1418733 Unspecified POLH +OMIM:603968 skos:exactMatch HGNC_symbol:POLH Unspecified POLH +OMIM:603968 skos:exactMatch HGNC:9181 Unspecified POLH +OMIM:601305 skos:exactMatch UMLS:C1415814 Unspecified HTR5A +OMIM:601305 skos:exactMatch HGNC_symbol:HTR5A Unspecified HTR5A +OMIM:601305 skos:exactMatch HGNC:5300 Unspecified HTR5A +OMIM:601306 skos:exactMatch UMLS:C1415497 Unspecified HCLS1 +OMIM:601306 skos:exactMatch HGNC_symbol:HCLS1 Unspecified HCLS1 +OMIM:601306 skos:exactMatch HGNC:4844 Unspecified HCLS1 +OMIM:603967 skos:exactMatch UMLS:C2931826 Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C0238357 Unspecified SCN4A +OMIM:603967 skos:exactMatch HGNC_symbol:SCN4A Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C1858891 Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C1419862 Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C0752355 Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C4016868 Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C4016869 Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C1868433 Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C0221055 Unspecified SCN4A +OMIM:603967 skos:exactMatch HGNC:10591 Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C2750061 Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C2986382 Unspecified SCN4A +OMIM:603967 skos:exactMatch UMLS:C3280112 Unspecified SCN4A +OMIM:603969 skos:exactMatch HGNC_symbol:TNFSF13B Unspecified TNFSF13B +OMIM:603969 skos:exactMatch HGNC:11929 Unspecified TNFSF13B +OMIM:603969 skos:exactMatch UMLS:C1420816 Unspecified TNFSF13B +OMIM:601308 skos:exactMatch UMLS:C1832510 Unspecified myeloid tumor suppressor +OMIM:601309 skos:exactMatch HGNC:9585 Unspecified PTCH1 +OMIM:601309 skos:exactMatch HGNC_symbol:PTCH1 Unspecified PTCH1 +OMIM:601309 skos:exactMatch UMLS:C1826732 Unspecified PTCH1 +OMIM:615950 skos:exactMatch UMLS:C4017669 Unspecified SPEG +OMIM:615950 skos:exactMatch UMLS:C4017672 Unspecified SPEG +OMIM:615950 skos:exactMatch UMLS:C4017670 Unspecified SPEG +OMIM:615950 skos:exactMatch UMLS:C4017671 Unspecified SPEG +OMIM:615950 skos:exactMatch HGNC_symbol:SPEG Unspecified SPEG +OMIM:615950 skos:exactMatch UMLS:C4014788 Unspecified SPEG +OMIM:615950 skos:exactMatch UMLS:C1823098 Unspecified SPEG +OMIM:615950 skos:exactMatch HGNC:16901 Unspecified SPEG +OMIM:615940 skos:exactMatch HGNC:24175 Unspecified PTPLAD1 +OMIM:615940 skos:exactMatch UMLS:C1826735 Unspecified PTPLAD1 +OMIM:615940 skos:exactMatch HGNC_symbol:HACD3 Unspecified PTPLAD1 +OMIM:615941 skos:exactMatch HGNC:20920 Unspecified PTPLAD2 +OMIM:615941 skos:exactMatch UMLS:C1826736 Unspecified PTPLAD2 +OMIM:615941 skos:exactMatch HGNC_symbol:HACD4 Unspecified PTPLAD2 +OMIM:615942 skos:exactMatch UMLS:C4014745 Unspecified intellectual developmental disorder, autosomal recessive 44 +OMIM:615943 skos:exactMatch HGNC_symbol:MAGI3 Unspecified MAGI3 +OMIM:615943 skos:exactMatch UMLS:C1825939 Unspecified MAGI3 +OMIM:615943 skos:exactMatch HGNC:29647 Unspecified MAGI3 +OMIM:615944 skos:exactMatch HGNC_symbol:C2CD3 Unspecified C2CD3 +OMIM:615944 skos:exactMatch HGNC:24564 Unspecified C2CD3 +OMIM:615944 skos:exactMatch UMLS:C2240247 Unspecified C2CD3 +OMIM:615945 skos:exactMatch UMLS:C3889636 Unspecified spinocerebellar ataxia 37 +OMIM:615945 skos:exactMatch ORPHA:363710 Unspecified spinocerebellar ataxia 37 +OMIM:615946 skos:exactMatch UMLS:C4014762 Unspecified myopia 24, autosomal dominant +OMIM:615947 skos:exactMatch UMLS:C4014767 Unspecified hyperlipoproteinemia, iia 1d +OMIM:615948 skos:exactMatch UMLS:C4014780 Unspecified orofaciodigital syndrome 14 +OMIM:615949 skos:exactMatch HGNC_symbol:TMEM98 Unspecified TMEM98 +OMIM:615949 skos:exactMatch UMLS:C1823358 Unspecified TMEM98 +OMIM:615949 skos:exactMatch HGNC:24529 Unspecified TMEM98 +OMIM:603971 skos:exactMatch UMLS:C1421849 Unspecified ZNF91 +OMIM:603971 skos:exactMatch HGNC_symbol:ZNF91 Unspecified ZNF91 +OMIM:603971 skos:exactMatch HGNC:13166 Unspecified ZNF91 +OMIM:603970 skos:exactMatch UMLS:C1418712 Unspecified PNMA2 +OMIM:603970 skos:exactMatch HGNC:9159 Unspecified PNMA2 +OMIM:603970 skos:exactMatch HGNC_symbol:PNMA2 Unspecified PNMA2 +OMIM:603951 skos:exactMatch HGNC:6285 Unspecified KCNMB1 +OMIM:603951 skos:exactMatch HGNC_symbol:KCNMB1 Unspecified KCNMB1 +OMIM:603951 skos:exactMatch UMLS:C1416603 Unspecified KCNMB1 +OMIM:603951 skos:exactMatch UMLS:C1837739 Unspecified KCNMB1 +OMIM:603950 skos:exactMatch HGNC:7682 Unspecified NDST3 +OMIM:603950 skos:exactMatch UMLS:C1417619 Unspecified NDST3 +OMIM:603950 skos:exactMatch HGNC_symbol:NDST3 Unspecified NDST3 +OMIM:603953 skos:exactMatch HGNC_symbol:KCNJ14 Unspecified KCNJ14 +OMIM:603953 skos:exactMatch HGNC:6260 Unspecified KCNJ14 +OMIM:603953 skos:exactMatch UMLS:C1416581 Unspecified KCNJ14 +OMIM:266140 skos:exactMatch UMLS:C0520739 Unspecified pyropoikilocytosis, hereditary +OMIM:603952 skos:exactMatch HGNC_symbol:DRG1 Unspecified DRG1 +OMIM:603952 skos:exactMatch HGNC:3029 Unspecified DRG1 +OMIM:603952 skos:exactMatch UMLS:C1414151 Unspecified DRG1 +OMIM:109400 skos:exactMatch UMLS:C0004779 Unspecified basal cell nevus syndrome +OMIM:109400 skos:exactMatch ORPHA:377 Unspecified basal cell nevus syndrome +OMIM:603955 skos:exactMatch UMLS:C1414644 Unspecified FMO2 +OMIM:603955 skos:exactMatch HGNC_symbol:FMO2 Unspecified FMO2 +OMIM:603955 skos:exactMatch HGNC:3770 Unspecified FMO2 +OMIM:603954 skos:exactMatch HGNC:13194 Unspecified ZW10 +OMIM:603954 skos:exactMatch HGNC_symbol:ZW10 Unspecified ZW10 +OMIM:603954 skos:exactMatch UMLS:C1421868 Unspecified ZW10 +OMIM:603957 skos:exactMatch UMLS:C1414647 Unspecified FMO5 +OMIM:603957 skos:exactMatch HGNC:3773 Unspecified FMO5 +OMIM:603957 skos:exactMatch HGNC_symbol:FMO5 Unspecified FMO5 +OMIM:603956 skos:exactMatch UMLS:C4048328 Unspecified cervical cancer +OMIM:603959 skos:exactMatch UMLS:C1413465 Unspecified CLDN16 +OMIM:603959 skos:exactMatch HGNC_symbol:CLDN16 Unspecified CLDN16 +OMIM:603959 skos:exactMatch HGNC:2037 Unspecified CLDN16 +OMIM:603958 skos:exactMatch HGNC:9985 Unspecified RFX4 +OMIM:603958 skos:exactMatch HGNC_symbol:RFX4 Unspecified RFX4 +OMIM:603958 skos:exactMatch UMLS:C1419362 Unspecified RFX4 +OMIM:136900 skos:exactMatch UMLS:C1850938 Unspecified sorsby fundus dystrophy +OMIM:615930 skos:exactMatch UMLS:C3469775 Unspecified CAHM +OMIM:615930 skos:exactMatch HGNC:42860 Unspecified CAHM +OMIM:615930 skos:exactMatch HGNC_symbol:CAHM Unspecified CAHM +OMIM:615931 skos:exactMatch HGNC:29654 Unspecified PRR16 +OMIM:615931 skos:exactMatch UMLS:C1826720 Unspecified PRR16 +OMIM:615931 skos:exactMatch HGNC_symbol:PRR16 Unspecified PRR16 +OMIM:615932 skos:exactMatch HGNC_symbol:KCTD20 Unspecified KCTD20 +OMIM:615932 skos:exactMatch HGNC:21052 Unspecified KCTD20 +OMIM:615932 skos:exactMatch UMLS:C1825646 Unspecified KCTD20 +OMIM:615933 skos:exactMatch UMLS:C1823192 Unspecified BTBD10 +OMIM:615933 skos:exactMatch HGNC_symbol:BTBD10 Unspecified BTBD10 +OMIM:615933 skos:exactMatch HGNC:21445 Unspecified BTBD10 +OMIM:615934 skos:exactMatch UMLS:C4014722 Unspecified sting-associated vasculopathy, infantile-onset +OMIM:615935 skos:exactMatch UMLS:C4014737 Unspecified pancreatic agenesis 2 +OMIM:615936 skos:exactMatch HGNC_symbol:ARHGAP42 Unspecified ARHGAP42 +OMIM:615936 skos:exactMatch HGNC:26545 Unspecified ARHGAP42 +OMIM:615936 skos:exactMatch UMLS:C2828634 Unspecified ARHGAP42 +OMIM:615937 skos:exactMatch ORPHA:83473 Unspecified megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +OMIM:615937 skos:exactMatch UMLS:C4014738 Unspecified megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +OMIM:615938 skos:exactMatch UMLS:C4014742 Unspecified megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 +OMIM:615939 skos:exactMatch HGNC_symbol:HACD2 Unspecified PTPLB +OMIM:615939 skos:exactMatch HGNC:9640 Unspecified PTPLB +OMIM:615939 skos:exactMatch UMLS:C3892028 Unspecified PTPLB +OMIM:266150 skos:exactMatch UMLS:C0034341 Unspecified pyruvate carboxylase deficiency +OMIM:603960 skos:exactMatch HGNC_symbol:CCIN Unspecified CCIN +OMIM:603960 skos:exactMatch HGNC:1568 Unspecified CCIN +OMIM:603960 skos:exactMatch UMLS:C1413166 Unspecified CCIN +OMIM:603940 skos:exactMatch HGNC_symbol:KCNK7 Unspecified KCNK7 +OMIM:603940 skos:exactMatch HGNC:6282 Unspecified KCNK7 +OMIM:603940 skos:exactMatch UMLS:C1416600 Unspecified KCNK7 +OMIM:266130 skos:exactMatch UMLS:C0398746 Unspecified glutathione synthetase deficiency +OMIM:603942 skos:exactMatch HGNC_symbol:GYG1 Unspecified GYG1 +OMIM:603942 skos:exactMatch HGNC:4699 Unspecified GYG1 +OMIM:603942 skos:exactMatch UMLS:C1825436 Unspecified GYG1 +OMIM:603941 skos:exactMatch UMLS:C1420118 Unspecified SLC19A2 +OMIM:603941 skos:exactMatch HGNC_symbol:SLC19A2 Unspecified SLC19A2 +OMIM:603941 skos:exactMatch HGNC:10938 Unspecified SLC19A2 +OMIM:603944 skos:exactMatch HGNC_symbol:STX6 Unspecified STX6 +OMIM:603944 skos:exactMatch HGNC:11441 Unspecified STX6 +OMIM:603944 skos:exactMatch UMLS:C1420503 Unspecified STX6 +OMIM:603943 skos:exactMatch HGNC_symbol:CDO1 Unspecified CDO +OMIM:603943 skos:exactMatch UMLS:C1413295 Unspecified CDO +OMIM:603943 skos:exactMatch HGNC:1795 Unspecified CDO +OMIM:603946 skos:exactMatch UMLS:C1415508 Unspecified HELLS +OMIM:603946 skos:exactMatch HGNC:4861 Unspecified HELLS +OMIM:603946 skos:exactMatch HGNC_symbol:HELLS Unspecified HELLS +OMIM:603945 skos:exactMatch UMLS:C1414331 Unspecified EIF2B5 +OMIM:603945 skos:exactMatch HGNC_symbol:EIF2B5 Unspecified EIF2B5 +OMIM:603945 skos:exactMatch HGNC:3261 Unspecified EIF2B5 +OMIM:603948 skos:exactMatch UMLS:C1417892 Unspecified NUP153 +OMIM:603948 skos:exactMatch HGNC_symbol:NUP153 Unspecified NUP153 +OMIM:603948 skos:exactMatch HGNC:8062 Unspecified NUP153 +OMIM:603947 skos:exactMatch HGNC:7411 Unspecified MTA2 +OMIM:603947 skos:exactMatch HGNC_symbol:MTA2 Unspecified MTA2 +OMIM:603947 skos:exactMatch UMLS:C1417406 Unspecified MTA2 +OMIM:603949 skos:exactMatch HGNC_symbol:RAB29 Unspecified RAB7L1 +OMIM:603949 skos:exactMatch HGNC:9789 Unspecified RAB7L1 +OMIM:603949 skos:exactMatch UMLS:C1419218 Unspecified RAB7L1 +OMIM:615920 skos:exactMatch HGNC:25619 Unspecified PRR11 +OMIM:615920 skos:exactMatch UMLS:C1826715 Unspecified PRR11 +OMIM:615920 skos:exactMatch HGNC_symbol:PRR11 Unspecified PRR11 +OMIM:615921 skos:exactMatch HGNC:28208 Unspecified PERM1 +OMIM:615921 skos:exactMatch UMLS:C1823785 Unspecified PERM1 +OMIM:615921 skos:exactMatch HGNC_symbol:PERM1 Unspecified PERM1 +OMIM:615922 skos:exactMatch UMLS:C4014681 Unspecified retinitis pigmentosa 70 +OMIM:615923 skos:exactMatch UMLS:C4014690 Unspecified epiphyseal chondrodysplasia, miura iia +OMIM:615924 skos:exactMatch UMLS:C4014700 Unspecified encephalopathy, progressive, with or without lipodystrophy +OMIM:615925 skos:exactMatch UMLS:C1858656 Unspecified growth hormone deficiency, isolated partial +OMIM:615926 skos:exactMatch UMLS:C4014708 Unspecified webb-dattani syndrome +OMIM:615927 skos:exactMatch HGNC_symbol:RFLNA Unspecified RFLNA +OMIM:615927 skos:exactMatch UMLS:C1825224 Unspecified RFLNA +OMIM:615927 skos:exactMatch HGNC:27051 Unspecified RFLNA +OMIM:615928 skos:exactMatch HGNC_symbol:RFLNB Unspecified RFLNB +OMIM:615928 skos:exactMatch UMLS:C1825225 Unspecified RFLNB +OMIM:615928 skos:exactMatch HGNC:28705 Unspecified RFLNB +OMIM:615929 skos:exactMatch HGNC:23575 Unspecified ANKRD17 +OMIM:615929 skos:exactMatch UMLS:C1428138 Unspecified ANKRD17 +OMIM:615929 skos:exactMatch HGNC_symbol:ANKRD17 Unspecified ANKRD17 +OMIM:266120 skos:exactMatch UMLS:C1849507 Unspecified uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to +OMIM:603931 skos:exactMatch HGNC_symbol:ATP6V0E1 Unspecified ATP6V0E1 +OMIM:603931 skos:exactMatch HGNC:863 Unspecified ATP6V0E1 +OMIM:603931 skos:exactMatch UMLS:C1825508 Unspecified ATP6V0E1 +OMIM:603930 skos:exactMatch HGNC:15465 Unspecified GPHN +OMIM:603930 skos:exactMatch UMLS:C1834584 Unspecified GPHN +OMIM:603930 skos:exactMatch UMLS:C1423507 Unspecified GPHN +OMIM:603930 skos:exactMatch HGNC_symbol:GPHN Unspecified GPHN +OMIM:603933 skos:exactMatch UMLS:C4017829 Unspecified microvascular complications of diabetes, susceptibility to, 1 +OMIM:603933 skos:exactMatch UMLS:C2676832 Unspecified microvascular complications of diabetes, susceptibility to, 1 +OMIM:603933 skos:exactMatch UMLS:C2676833 Unspecified microvascular complications of diabetes, susceptibility to, 1 +OMIM:603933 skos:exactMatch UMLS:C2676835 Unspecified microvascular complications of diabetes, susceptibility to, 1 +OMIM:603933 skos:exactMatch UMLS:C2676836 Unspecified microvascular complications of diabetes, susceptibility to, 1 +OMIM:603933 skos:exactMatch UMLS:C2676837 Unspecified microvascular complications of diabetes, susceptibility to, 1 +OMIM:603933 skos:exactMatch UMLS:C2676838 Unspecified microvascular complications of diabetes, susceptibility to, 1 +OMIM:603933 skos:exactMatch UMLS:C2676839 Unspecified microvascular complications of diabetes, susceptibility to, 1 +OMIM:603932 skos:exactMatch UMLS:C0221775 Unspecified intervertebral disc disease +OMIM:603932 skos:exactMatch UMLS:C0158252 Unspecified intervertebral disc disease +OMIM:603932 skos:exactMatch UMLS:C2676840 Unspecified intervertebral disc disease +OMIM:603932 skos:exactMatch UMLS:C2675551 Unspecified intervertebral disc disease +OMIM:603935 skos:exactMatch UMLS:C1858958 Unspecified psoriasis 4, susceptibility to +OMIM:603934 skos:exactMatch UMLS:C1428067 Unspecified CARM1 +OMIM:603934 skos:exactMatch HGNC_symbol:CARM1 Unspecified CARM1 +OMIM:603934 skos:exactMatch HGNC:23393 Unspecified CARM1 +OMIM:603937 skos:exactMatch HGNC_symbol:RP1 Unspecified RP1 +OMIM:603937 skos:exactMatch UMLS:C1419605 Unspecified RP1 +OMIM:603937 skos:exactMatch HGNC:10263 Unspecified RP1 +OMIM:603936 skos:exactMatch UMLS:C1415032 Unspecified GDF11 +OMIM:603936 skos:exactMatch UMLS:C5436851 Unspecified GDF11 +OMIM:603936 skos:exactMatch HGNC_symbol:GDF11 Unspecified GDF11 +OMIM:603936 skos:exactMatch HGNC:4216 Unspecified GDF11 +OMIM:603939 skos:exactMatch UMLS:C1416599 Unspecified KCNK6 +OMIM:603939 skos:exactMatch HGNC_symbol:KCNK6 Unspecified KCNK6 +OMIM:603939 skos:exactMatch HGNC:6281 Unspecified KCNK6 +OMIM:278100 skos:exactMatch UMLS:C1848436 Unspecified +OMIM:615910 skos:exactMatch UMLS:C2681323 Unspecified NAXD +OMIM:615910 skos:exactMatch HGNC:25576 Unspecified NAXD +OMIM:615910 skos:exactMatch HGNC_symbol:NAXD Unspecified NAXD +OMIM:615910 skos:exactMatch UMLS:C5193026 Unspecified NAXD +OMIM:254150 skos:exactMatch UMLS:C1850807 Unspecified musk, inability to smell +OMIM:615911 skos:exactMatch UMLS:C4014648 Unspecified frontotemporal dementia and/or amyotrophic lateral sclerosis 2 +OMIM:615912 skos:exactMatch UMLS:C1825425 Unspecified GSTCD +OMIM:615912 skos:exactMatch HGNC_symbol:GSTCD Unspecified GSTCD +OMIM:615912 skos:exactMatch HGNC:25806 Unspecified GSTCD +OMIM:615913 skos:exactMatch HGNC_symbol:PM20D2 Unspecified PM20D2 +OMIM:615913 skos:exactMatch HGNC:21408 Unspecified PM20D2 +OMIM:615913 skos:exactMatch UMLS:C1427553 Unspecified PM20D2 +OMIM:615914 skos:exactMatch UMLS:C1824687 Unspecified CDKN2AIP +OMIM:615914 skos:exactMatch HGNC_symbol:CDKN2AIP Unspecified CDKN2AIP +OMIM:615914 skos:exactMatch HGNC:24325 Unspecified CDKN2AIP +OMIM:615915 skos:exactMatch UMLS:C1824079 Unspecified ZPLD1 +OMIM:615915 skos:exactMatch HGNC_symbol:ZPLD1 Unspecified ZPLD1 +OMIM:615915 skos:exactMatch HGNC:27022 Unspecified ZPLD1 +OMIM:615916 skos:exactMatch UMLS:C4014656 Unspecified cardiomyopathy, dilated, 1nn +OMIM:615917 skos:exactMatch UMLS:C4014660 Unspecified combined oxidative phosphorylation deficiency 20 +OMIM:615917 skos:exactMatch ORPHA:420728 Unspecified combined oxidative phosphorylation deficiency 20 +OMIM:615918 skos:exactMatch UMLS:C4014668 Unspecified combined oxidative phosphorylation deficiency 21 +OMIM:615919 skos:exactMatch UMLS:C4014676 Unspecified ataxia-telangiectasia-like disorder 2 +OMIM:601344 skos:exactMatch UMLS:C1832464 Unspecified spinal dysplasia, anhalt iia +OMIM:601345 skos:exactMatch UMLS:C1832444 Unspecified ectodermal dysplasia with natal teeth, turnpenny iia +OMIM:601346 skos:exactMatch UMLS:C1832443 Unspecified martinez-frias syndrome +OMIM:601347 skos:exactMatch UMLS:C1832442 Unspecified myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay +OMIM:601348 skos:exactMatch UMLS:C1832441 Unspecified ectrodactyly of lower limbs, congenital heart defect, and micrognathia +OMIM:601349 skos:exactMatch UMLS:C1832440 Unspecified microphthalmia, syndromic 8 +OMIM:613329 skos:exactMatch UMLS:C2750067 Unspecified plasminogen activator inhibitor-1 deficiency +OMIM:613328 skos:exactMatch UMLS:C2750068 Unspecified roifman-chitayat syndrome +OMIM:613327 skos:exactMatch UMLS:C2750069 Unspecified lipodystrophy, congenital generalized, iia 4 +OMIM:613326 skos:exactMatch HGNC:3013 Unspecified DPYS +OMIM:613326 skos:exactMatch UMLS:C0342803 Unspecified DPYS +OMIM:613326 skos:exactMatch UMLS:C1414144 Unspecified DPYS +OMIM:613326 skos:exactMatch HGNC_symbol:DPYS Unspecified DPYS +OMIM:615990 skos:exactMatch UMLS:C2673873 Unspecified bardet-biedl syndrome 13 +OMIM:615990 skos:exactMatch ORPHA:110 Unspecified bardet-biedl syndrome 13 +OMIM:613325 skos:exactMatch UMLS:C2750074 Unspecified rhabdoid tumor predisposition syndrome 2 +OMIM:615991 skos:exactMatch UMLS:C2673874 Unspecified bardet-biedl syndrome 14 +OMIM:613324 skos:exactMatch HGNC:23222 Unspecified SPATA13 +OMIM:613324 skos:exactMatch HGNC_symbol:SPATA13 Unspecified SPATA13 +OMIM:613324 skos:exactMatch UMLS:C1428000 Unspecified SPATA13 +OMIM:615992 skos:exactMatch UMLS:C3150127 Unspecified bardet-biedl syndrome 15 +OMIM:615993 skos:exactMatch UMLS:C3889474 Unspecified bardet-biedl syndrome 16 +OMIM:613323 skos:exactMatch UMLS:C1539535 Unspecified FRMPD2 +OMIM:613323 skos:exactMatch HGNC:28572 Unspecified FRMPD2 +OMIM:613323 skos:exactMatch HGNC_symbol:FRMPD2 Unspecified FRMPD2 +OMIM:613322 skos:exactMatch HGNC:33383 Unspecified GXYLT2 +OMIM:613322 skos:exactMatch HGNC_symbol:GXYLT2 Unspecified GXYLT2 +OMIM:613322 skos:exactMatch UMLS:C2239497 Unspecified GXYLT2 +OMIM:615994 skos:exactMatch UMLS:C3714980 Unspecified bardet-biedl syndrome 17 +OMIM:615984 skos:exactMatch UMLS:C1859565 Unspecified bardet-biedl syndrome 7 +OMIM:613332 skos:exactMatch UMLS:C1537657 Unspecified MARCHF2 +OMIM:613332 skos:exactMatch HGNC_symbol:MARCHF2 Unspecified MARCHF2 +OMIM:613332 skos:exactMatch HGNC:28038 Unspecified MARCHF2 +OMIM:615985 skos:exactMatch UMLS:C1859566 Unspecified bardet-biedl syndrome 8 +OMIM:613331 skos:exactMatch UMLS:C1537656 Unspecified MARCHF1 +OMIM:613331 skos:exactMatch HGNC_symbol:MARCHF1 Unspecified MARCHF1 +OMIM:613331 skos:exactMatch HGNC:26077 Unspecified MARCHF1 +OMIM:615986 skos:exactMatch UMLS:C1859567 Unspecified bardet-biedl syndrome 9 +OMIM:613330 skos:exactMatch UMLS:C2750066 Unspecified spondylo-megaepiphyseal-metaphyseal dysplasia +OMIM:615987 skos:exactMatch UMLS:C1859568 Unspecified bardet-biedl syndrome 10 +OMIM:615988 skos:exactMatch UMLS:C1859569 Unspecified bardet-biedl syndrome 11 +OMIM:615989 skos:exactMatch UMLS:C1859570 Unspecified bardet-biedl syndrome 12 +OMIM:254120 skos:exactMatch UMLS:C1850827 Unspecified muscular hypertonia, lethal +OMIM:601350 skos:exactMatch UMLS:C1832439 Unspecified short stature syndrome, brussels iia +OMIM:601351 skos:exactMatch UMLS:C1832438 Unspecified growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction +OMIM:601352 skos:exactMatch UMLS:C1832437 Unspecified mental retardation, microcephaly, epilepsy, and coarse face +OMIM:601353 skos:exactMatch UMLS:C0795941 Unspecified brachycephaly, deafness, cataract, microstomia, and mental retardation +OMIM:603995 skos:exactMatch UMLS:C1858866 Unspecified zinc finger protein 113 +OMIM:601332 skos:exactMatch UMLS:C1826256 Unspecified MKX +OMIM:601332 skos:exactMatch HGNC:23729 Unspecified MKX +OMIM:601332 skos:exactMatch HGNC_symbol:MKX Unspecified MKX +OMIM:603994 skos:exactMatch HGNC:12892 Unspecified ZNF112 +OMIM:603994 skos:exactMatch HGNC_symbol:ZNF112 Unspecified ZNF112 +OMIM:603994 skos:exactMatch UMLS:C1858867 Unspecified ZNF112 +OMIM:601333 skos:exactMatch HGNC:11470 Unspecified SUPT6H +OMIM:601333 skos:exactMatch UMLS:C0812269 Unspecified SUPT6H +OMIM:601333 skos:exactMatch HGNC_symbol:SUPT6H Unspecified SUPT6H +OMIM:601334 skos:exactMatch UMLS:C1825717 Unspecified KLC3 +OMIM:601334 skos:exactMatch HGNC:20717 Unspecified KLC3 +OMIM:601334 skos:exactMatch HGNC_symbol:KLC3 Unspecified KLC3 +OMIM:603997 skos:exactMatch UMLS:C1858865 Unspecified zinc finger protein 118 +OMIM:601335 skos:exactMatch HGNC:6844 Unspecified MAP2K4 +OMIM:601335 skos:exactMatch HGNC_symbol:MAP2K4 Unspecified MAP2K4 +OMIM:601335 skos:exactMatch UMLS:C1417008 Unspecified MAP2K4 +OMIM:603996 skos:exactMatch HGNC:12894 Unspecified ZNF114 +OMIM:603996 skos:exactMatch UMLS:C1421602 Unspecified ZNF114 +OMIM:603996 skos:exactMatch HGNC_symbol:ZNF114 Unspecified ZNF114 +OMIM:601336 skos:exactMatch UMLS:C1832467 Unspecified MOGS +OMIM:601336 skos:exactMatch HGNC:24862 Unspecified MOGS +OMIM:601336 skos:exactMatch HGNC_symbol:MOGS Unspecified MOGS +OMIM:603999 skos:exactMatch UMLS:C1858863 Unspecified ZNF120 +OMIM:242150 skos:exactMatch UMLS:C1275089 Unspecified keratitis-ichthyosis-deafness syndrome, autosomal recessive +OMIM:242150 skos:exactMatch ORPHA:477 Unspecified keratitis-ichthyosis-deafness syndrome, autosomal recessive +OMIM:601337 skos:exactMatch HGNC_symbol:RFX3 Unspecified RFX3 +OMIM:601337 skos:exactMatch UMLS:C1419361 Unspecified RFX3 +OMIM:601337 skos:exactMatch HGNC:9984 Unspecified RFX3 +OMIM:603998 skos:exactMatch UMLS:C1858864 Unspecified zinc finger protein 119 +OMIM:601338 skos:exactMatch UMLS:C1832466 Unspecified cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss +OMIM:266100 skos:exactMatch UMLS:C1849508 Unspecified epilepsy, pyridoxine-dependent +OMIM:613319 skos:exactMatch UMLS:C2750076 Unspecified miyoshi muscular dystrophy 3 +OMIM:613318 skos:exactMatch UMLS:C2750077 Unspecified miyoshi muscular dystrophy 2 +OMIM:613317 skos:exactMatch UMLS:C1426815 Unspecified DCAF11 +OMIM:613317 skos:exactMatch HGNC:20258 Unspecified DCAF11 +OMIM:613317 skos:exactMatch HGNC_symbol:DCAF11 Unspecified DCAF11 +OMIM:613316 skos:exactMatch HGNC_symbol:WDFY4 Unspecified WDFY4 +OMIM:613316 skos:exactMatch HGNC:29323 Unspecified WDFY4 +OMIM:613316 skos:exactMatch UMLS:C1428836 Unspecified WDFY4 +OMIM:613315 skos:exactMatch UMLS:C1419677 Unspecified RPL41 +OMIM:613315 skos:exactMatch HGNC_symbol:RPL41 Unspecified RPL41 +OMIM:613315 skos:exactMatch HGNC:10354 Unspecified RPL41 +OMIM:615980 skos:exactMatch UMLS:C4014869 Unspecified lipodystrophy, familial partial, iia 6 +OMIM:613314 skos:exactMatch UMLS:C1419671 Unspecified RPL37A +OMIM:613314 skos:exactMatch HGNC_symbol:RPL37A Unspecified RPL37A +OMIM:613314 skos:exactMatch HGNC:10348 Unspecified RPL37A +OMIM:613313 skos:exactMatch UMLS:C1865616 Unspecified hemochromatosis, iia 2b +OMIM:615981 skos:exactMatch UMLS:C2936863 Unspecified bardet-biedl syndrome 2 +OMIM:615982 skos:exactMatch UMLS:C2936864 Unspecified bardet-biedl syndrome 4 +OMIM:613312 skos:exactMatch UMLS:C2750078 Unspecified hypophosphatemic rickets, autosomal recessive, 2 +OMIM:615983 skos:exactMatch UMLS:C3892039 Unspecified bardet-biedl syndrome 5 +OMIM:613311 skos:exactMatch HGNC_symbol:LYRM4 Unspecified LYRM4 +OMIM:613311 skos:exactMatch HGNC:21365 Unspecified LYRM4 +OMIM:613311 skos:exactMatch UMLS:C1825924 Unspecified LYRM4 +OMIM:615973 skos:exactMatch UMLS:C4014856 Unspecified cone-rod dystrophy 20 +OMIM:613321 skos:exactMatch UMLS:C1825374 Unspecified GXYLT1 +OMIM:613321 skos:exactMatch HGNC_symbol:GXYLT1 Unspecified GXYLT1 +OMIM:613321 skos:exactMatch HGNC:27482 Unspecified GXYLT1 +OMIM:613320 skos:exactMatch UMLS:C2750075 Unspecified spondylometaphyseal dysplasia, megarbane-dagher-melki iia +OMIM:615974 skos:exactMatch UMLS:C3892050 Unspecified deafness, autosomal recessive 102 +OMIM:615975 skos:exactMatch UMLS:C1823388 Unspecified TMEM129 +OMIM:615975 skos:exactMatch HGNC:25137 Unspecified TMEM129 +OMIM:615975 skos:exactMatch HGNC_symbol:TMEM129 Unspecified TMEM129 +OMIM:615976 skos:exactMatch HGNC_symbol:FOXCUT Unspecified FOXCUT +OMIM:615976 skos:exactMatch HGNC:50650 Unspecified FOXCUT +OMIM:615976 skos:exactMatch UMLS:C3889231 Unspecified FOXCUT +OMIM:615977 skos:exactMatch UMLS:C1537882 Unspecified MIR339 +OMIM:615977 skos:exactMatch HGNC_symbol:MIR339 Unspecified MIR339 +OMIM:615977 skos:exactMatch HGNC:31776 Unspecified MIR339 +OMIM:615978 skos:exactMatch UMLS:C4014863 Unspecified immunodeficiency 27b +OMIM:615978 skos:exactMatch ORPHA:319581 Unspecified immunodeficiency 27b +OMIM:254130 skos:exactMatch UMLS:C4551973 Unspecified miyoshi muscular dystrophy 1 +OMIM:615979 skos:exactMatch UMLS:C4014864 Unspecified intellectual developmental disorder, autosomal recessive 45 +OMIM:601340 skos:exactMatch UMLS:C1417154 Unspecified MIA +OMIM:601340 skos:exactMatch HGNC:7076 Unspecified MIA +OMIM:601340 skos:exactMatch HGNC_symbol:MIA Unspecified MIA +OMIM:601341 skos:exactMatch UMLS:C1832465 Unspecified atrophia maculosa varioliformis cutis, familial +OMIM:601342 skos:exactMatch HGNC:2431 Unspecified CSE1L +OMIM:601342 skos:exactMatch UMLS:C1413749 Unspecified CSE1L +OMIM:601342 skos:exactMatch HGNC_symbol:CSE1L Unspecified CSE1L +OMIM:601321 skos:exactMatch UMLS:C2931482 Unspecified neurofibromatosis-noonan syndrome +OMIM:603984 skos:exactMatch UMLS:C2240213 Unspecified ZNF737 +OMIM:603984 skos:exactMatch HGNC_symbol:ZNF737 Unspecified ZNF737 +OMIM:603984 skos:exactMatch HGNC:32468 Unspecified ZNF737 +OMIM:601322 skos:exactMatch UMLS:C1832472 Unspecified porencephaly, cerebellar hypoplasia, and internal malformations +OMIM:136950 skos:exactMatch HGNC:8568 Unspecified FURIN +OMIM:136950 skos:exactMatch UMLS:C0919550 Unspecified FURIN +OMIM:136950 skos:exactMatch HGNC_symbol:FURIN Unspecified FURIN +OMIM:603983 skos:exactMatch HGNC:12881 Unspecified ZNF101 +OMIM:603983 skos:exactMatch HGNC_symbol:ZNF101 Unspecified ZNF101 +OMIM:603983 skos:exactMatch UMLS:C1421590 Unspecified ZNF101 +OMIM:601323 skos:exactMatch HGNC_symbol:NUCB1 Unspecified NUCB1 +OMIM:601323 skos:exactMatch UMLS:C1417874 Unspecified NUCB1 +OMIM:601323 skos:exactMatch HGNC:8043 Unspecified NUCB1 +OMIM:601324 skos:exactMatch HGNC:5036 Unspecified HNRNPD +OMIM:601324 skos:exactMatch UMLS:C1415638 Unspecified HNRNPD +OMIM:601324 skos:exactMatch HGNC_symbol:HNRNPD Unspecified HNRNPD +OMIM:603985 skos:exactMatch UMLS:C1858873 Unspecified zinc finger protein 103 +OMIM:603988 skos:exactMatch UMLS:C1858871 Unspecified zinc finger protein 106 +OMIM:601325 skos:exactMatch UMLS:C1413561 Unspecified CNTN3 +OMIM:601325 skos:exactMatch HGNC_symbol:CNTN3 Unspecified CNTN3 +OMIM:601325 skos:exactMatch HGNC:2173 Unspecified CNTN3 +OMIM:601326 skos:exactMatch HGNC:8514 Unspecified CLDN11 +OMIM:601326 skos:exactMatch HGNC_symbol:CLDN11 Unspecified CLDN11 +OMIM:601326 skos:exactMatch UMLS:C1418194 Unspecified CLDN11 +OMIM:603987 skos:exactMatch UMLS:C1858872 Unspecified zinc finger protein 105 +OMIM:601327 skos:exactMatch HGNC_symbol:SCN2B Unspecified SCN2B +OMIM:601327 skos:exactMatch UMLS:C1419860 Unspecified SCN2B +OMIM:601327 skos:exactMatch HGNC:10589 Unspecified SCN2B +OMIM:601327 skos:exactMatch UMLS:C3809312 Unspecified SCN2B +OMIM:601327 skos:exactMatch UMLS:C2986382 Unspecified SCN2B +OMIM:613309 skos:exactMatch UMLS:C2750080 Unspecified diamond-blackfan anemia 10 +OMIM:603989 skos:exactMatch HGNC:12887 Unspecified ZNF107 +OMIM:603989 skos:exactMatch UMLS:C1421595 Unspecified ZNF107 +OMIM:603989 skos:exactMatch HGNC_symbol:ZNF107 Unspecified ZNF107 +OMIM:613308 skos:exactMatch UMLS:C2750081 Unspecified diamond-blackfan anemia 9 +OMIM:601328 skos:exactMatch UMLS:C1419870 Unspecified SCNN1D +OMIM:601328 skos:exactMatch HGNC_symbol:SCNN1D Unspecified SCNN1D +OMIM:601328 skos:exactMatch HGNC:10601 Unspecified SCNN1D +OMIM:613307 skos:exactMatch UMLS:C2750082 Unspecified deafness, autosomal recessive 79 +OMIM:601329 skos:exactMatch UMLS:C1334342 Unspecified LIMK1 +OMIM:601329 skos:exactMatch HGNC:6613 Unspecified LIMK1 +OMIM:601329 skos:exactMatch HGNC_symbol:LIMK1 Unspecified LIMK1 +OMIM:613306 skos:exactMatch HGNC_symbol:ALKBH8 Unspecified ALKBH8 +OMIM:613306 skos:exactMatch HGNC:25189 Unspecified ALKBH8 +OMIM:613306 skos:exactMatch UMLS:C1823181 Unspecified ALKBH8 +OMIM:613305 skos:exactMatch HGNC_symbol:ALKBH7 Unspecified ALKBH7 +OMIM:613305 skos:exactMatch HGNC:21306 Unspecified ALKBH7 +OMIM:613305 skos:exactMatch UMLS:C1823180 Unspecified ALKBH7 +OMIM:613304 skos:exactMatch HGNC_symbol:ALKBH6 Unspecified ALKBH6 +OMIM:613304 skos:exactMatch UMLS:C1823179 Unspecified ALKBH6 +OMIM:613304 skos:exactMatch HGNC:28243 Unspecified ALKBH6 +OMIM:613303 skos:exactMatch HGNC_symbol:ALKBH5 Unspecified ALKBH5 +OMIM:613303 skos:exactMatch HGNC:25996 Unspecified ALKBH5 +OMIM:613303 skos:exactMatch UMLS:C1823178 Unspecified ALKBH5 +OMIM:615970 skos:exactMatch UMLS:C1863080 Unspecified alpha-fetoprotein, hereditary persistence of +OMIM:613302 skos:exactMatch HGNC_symbol:ALKBH4 Unspecified ALKBH4 +OMIM:613302 skos:exactMatch UMLS:C1823177 Unspecified ALKBH4 +OMIM:613302 skos:exactMatch HGNC:21900 Unspecified ALKBH4 +OMIM:613301 skos:exactMatch HGNC_symbol:FEZF1 Unspecified FEZF1 +OMIM:613301 skos:exactMatch UMLS:C1825290 Unspecified FEZF1 +OMIM:613301 skos:exactMatch HGNC:22788 Unspecified FEZF1 +OMIM:615972 skos:exactMatch UMLS:C4014848 Unspecified nanophthalmos 4 +OMIM:613300 skos:exactMatch UMLS:C2681464 Unspecified FAM13AOS +OMIM:613300 skos:exactMatch HGNC:19370 Unspecified FAM13AOS +OMIM:613300 skos:exactMatch HGNC_symbol:FAM13A-AS1 Unspecified FAM13AOS +OMIM:615962 skos:exactMatch UMLS:C1841972 Unspecified glucocorticoid resistance, generalized +OMIM:613310 skos:exactMatch UMLS:C2750079 Unspecified exudative vitreoretinopathy 5 +OMIM:615963 skos:exactMatch UMLS:C4014831 Unspecified vesicoureteral reflux 8 +OMIM:254100 skos:exactMatch UMLS:C1850840 Unspecified muscular dystrophy, congenital, with rapid progression +OMIM:615964 skos:exactMatch UMLS:C3891002 Unspecified MIR99AHG +OMIM:615964 skos:exactMatch HGNC:1274 Unspecified MIR99AHG +OMIM:615964 skos:exactMatch HGNC_symbol:MIR99AHG Unspecified MIR99AHG +OMIM:615965 skos:exactMatch HGNC:39522 Unspecified MIR100HG +OMIM:615965 skos:exactMatch UMLS:C3147811 Unspecified MIR100HG +OMIM:615965 skos:exactMatch HGNC_symbol:MIR100HG Unspecified MIR100HG +OMIM:615966 skos:exactMatch ORPHA:317425 Unspecified immunodeficiency 26 with or without neurologic abnormalities +OMIM:615966 skos:exactMatch UMLS:C4014833 Unspecified immunodeficiency 26 with or without neurologic abnormalities +OMIM:615967 skos:exactMatch UMLS:C1539210 Unspecified CYP2W1 +OMIM:615967 skos:exactMatch HGNC:20243 Unspecified CYP2W1 +OMIM:615967 skos:exactMatch HGNC_symbol:CYP2W1 Unspecified CYP2W1 +OMIM:615968 skos:exactMatch HGNC_symbol:MYCNUT Unspecified MYCNUT +OMIM:615968 skos:exactMatch UMLS:C3890831 Unspecified MYCNUT +OMIM:615968 skos:exactMatch HGNC:32684 Unspecified MYCNUT +OMIM:615969 skos:exactMatch UMLS:C1863081 Unspecified alpha-fetoprotein deficiency +OMIM:603991 skos:exactMatch UMLS:C1858870 Unspecified zinc finger protein 109 +OMIM:601330 skos:exactMatch HGNC:4688 Unspecified GUCY2C +OMIM:601330 skos:exactMatch UMLS:C1415363 Unspecified GUCY2C +OMIM:601330 skos:exactMatch HGNC_symbol:GUCY2C Unspecified GUCY2C +OMIM:603993 skos:exactMatch UMLS:C1858868 Unspecified zinc finger protein 111 +OMIM:601331 skos:exactMatch UMLS:C3275898 Unspecified renal dysplasia, cystic, susceptibility to +OMIM:603992 skos:exactMatch UMLS:C1858869 Unspecified zinc finger protein 110 +OMIM:603973 skos:exactMatch HGNC:13165 Unspecified ZNF90 +OMIM:603973 skos:exactMatch UMLS:C1421848 Unspecified ZNF90 +OMIM:603973 skos:exactMatch HGNC_symbol:ZNF90 Unspecified ZNF90 +OMIM:601310 skos:exactMatch UMLS:C1413886 Unspecified CYP4A11 +OMIM:601310 skos:exactMatch HGNC_symbol:CYP4A11 Unspecified CYP4A11 +OMIM:601310 skos:exactMatch HGNC:2642 Unspecified CYP4A11 +OMIM:601311 skos:exactMatch HGNC:11178 Unspecified SOAT2 +OMIM:601311 skos:exactMatch HGNC_symbol:SOAT2 Unspecified SOAT2 +OMIM:601311 skos:exactMatch UMLS:C1420305 Unspecified SOAT2 +OMIM:603972 skos:exactMatch UMLS:C1421799 Unspecified ZNF43 +OMIM:603972 skos:exactMatch HGNC_symbol:ZNF43 Unspecified ZNF43 +OMIM:603972 skos:exactMatch HGNC:13109 Unspecified ZNF43 +OMIM:603975 skos:exactMatch HGNC:13169 Unspecified ZNF93 +OMIM:603975 skos:exactMatch UMLS:C1421851 Unspecified ZNF93 +OMIM:603975 skos:exactMatch HGNC_symbol:ZNF93 Unspecified ZNF93 +OMIM:601313 skos:exactMatch UMLS:C3149841 Unspecified PKD1 +OMIM:601313 skos:exactMatch UMLS:C4016726 Unspecified PKD1 +OMIM:601313 skos:exactMatch UMLS:C1418599 Unspecified PKD1 +OMIM:601313 skos:exactMatch HGNC_symbol:PKD1 Unspecified PKD1 +OMIM:601313 skos:exactMatch HGNC:9008 Unspecified PKD1 +OMIM:603974 skos:exactMatch HGNC:13168 Unspecified ZNF92 +OMIM:603974 skos:exactMatch UMLS:C1421850 Unspecified ZNF92 +OMIM:603974 skos:exactMatch HGNC_symbol:ZNF92 Unspecified ZNF92 +OMIM:601314 skos:exactMatch HGNC_symbol:HINT1 Unspecified HINT1 +OMIM:601314 skos:exactMatch HGNC:4912 Unspecified HINT1 +OMIM:601314 skos:exactMatch UMLS:C1415545 Unspecified HINT1 +OMIM:603977 skos:exactMatch HGNC:12999 Unspecified ZNF208 +OMIM:603977 skos:exactMatch UMLS:C1421696 Unspecified ZNF208 +OMIM:603977 skos:exactMatch HGNC_symbol:ZNF208 Unspecified ZNF208 +OMIM:134300 skos:exactMatch UMLS:C0278151 Unspecified facial spasm +OMIM:603976 skos:exactMatch UMLS:C1858876 Unspecified zinc finger protein 94 +OMIM:601315 skos:exactMatch UMLS:C1832477 Unspecified epithelial basolateral chloride conductance regulator, rabbit, homolog of +OMIM:601316 skos:exactMatch UMLS:C1832476 Unspecified deafness, autosomal dominant 10 +OMIM:603979 skos:exactMatch UMLS:C1421855 Unspecified zinc finger protein 97 +OMIM:603978 skos:exactMatch HGNC:13172 Unspecified ZSCAN12 +OMIM:603978 skos:exactMatch HGNC_symbol:ZSCAN12 Unspecified ZSCAN12 +OMIM:603978 skos:exactMatch UMLS:C1421854 Unspecified ZSCAN12 +OMIM:601317 skos:exactMatch UMLS:C1832475 Unspecified deafness, autosomal dominant 11 +OMIM:601318 skos:exactMatch UMLS:C1832474 Unspecified iia 1 diabetes mellitus 13 +OMIM:601319 skos:exactMatch UMLS:C1832473 Unspecified odontomicronychial dysplasia +OMIM:615960 skos:exactMatch UMLS:C4014821 Unspecified poretti-boltshauser syndrome +OMIM:615961 skos:exactMatch UMLS:C3900122 Unspecified acid-labile subunit deficiency +OMIM:254110 skos:exactMatch ORPHA:1878 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 8 +OMIM:254110 skos:exactMatch UMLS:C0270968 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 8 +OMIM:615951 skos:exactMatch HGNC:29316 Unspecified ZSWIM6 +OMIM:615951 skos:exactMatch HGNC_symbol:ZSWIM6 Unspecified ZSWIM6 +OMIM:615951 skos:exactMatch UMLS:C1428833 Unspecified ZSWIM6 +OMIM:615952 skos:exactMatch UMLS:C4014795 Unspecified autoimmune disease, multisystem, infantile-onset, 1 +OMIM:615953 skos:exactMatch UMLS:C1835808 Unspecified kallikrein, decreased urinary activity of +OMIM:615954 skos:exactMatch UMLS:C4014803 Unspecified acth-independent macronodular adrenal hyperplasia 2 +OMIM:615955 skos:exactMatch UMLS:C1428683 Unspecified CCDC183 +OMIM:615955 skos:exactMatch HGNC_symbol:CCDC183 Unspecified CCDC183 +OMIM:615955 skos:exactMatch HGNC:28236 Unspecified CCDC183 +OMIM:615956 skos:exactMatch UMLS:C2681327 Unspecified ODAD3 +OMIM:615956 skos:exactMatch HGNC_symbol:ODAD3 Unspecified ODAD3 +OMIM:615956 skos:exactMatch HGNC:28303 Unspecified ODAD3 +OMIM:615957 skos:exactMatch UMLS:C4518337 Unspecified spinocerebellar ataxia 38 +OMIM:615958 skos:exactMatch UMLS:C1424101 Unspecified SLX4IP +OMIM:615958 skos:exactMatch HGNC_symbol:SLX4IP Unspecified SLX4IP +OMIM:615958 skos:exactMatch HGNC:16225 Unspecified SLX4IP +OMIM:615959 skos:exactMatch UMLS:C4014814 Unspecified myopathy, centronuclear, 5 +OMIM:603980 skos:exactMatch UMLS:C1421856 Unspecified ZNF98 +OMIM:603980 skos:exactMatch HGNC_symbol:ZNF98 Unspecified ZNF98 +OMIM:603980 skos:exactMatch HGNC:13174 Unspecified ZNF98 +OMIM:603982 skos:exactMatch HGNC:12880 Unspecified ZNF100 +OMIM:603982 skos:exactMatch HGNC_symbol:ZNF100 Unspecified ZNF100 +OMIM:603982 skos:exactMatch UMLS:C1421589 Unspecified ZNF100 +OMIM:161900 skos:exactMatch UMLS:C0403443 Unspecified renal failure, progressive, with hypertension +OMIM:603981 skos:exactMatch UMLS:C1421857 Unspecified ZNF99 +OMIM:603981 skos:exactMatch HGNC_symbol:ZNF99 Unspecified ZNF99 +OMIM:603981 skos:exactMatch HGNC:13175 Unspecified ZNF99 +OMIM:601387 skos:exactMatch UMLS:C1336678 Unspecified TSG101 +OMIM:601387 skos:exactMatch HGNC:15971 Unspecified TSG101 +OMIM:601387 skos:exactMatch HGNC_symbol:TSG101 Unspecified TSG101 +OMIM:601388 skos:exactMatch UMLS:C1832392 Unspecified iia 1 diabetes mellitus 12 +OMIM:601389 skos:exactMatch UMLS:C1832391 Unspecified cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction +OMIM:242100 skos:exactMatch UMLS:C3888093 Unspecified ichthyosis, congenital, autosomal recessive 2 +OMIM:303700 skos:exactMatch UMLS:C0339537 Unspecified blue cone monochromacy +OMIM:303700 skos:exactMatch UMLS:C3887937 Unspecified blue cone monochromacy +OMIM:173910 skos:exactMatch UMLS:C1418600 Unspecified PKD2 +OMIM:173910 skos:exactMatch HGNC_symbol:PKD2 Unspecified PKD2 +OMIM:173910 skos:exactMatch HGNC:9009 Unspecified PKD2 +OMIM:613369 skos:exactMatch HGNC:18676 Unspecified DDX42 +OMIM:613369 skos:exactMatch HGNC_symbol:DDX42 Unspecified DDX42 +OMIM:613369 skos:exactMatch UMLS:C1425699 Unspecified DDX42 +OMIM:613368 skos:exactMatch HGNC:29268 Unspecified CARNS1 +OMIM:613368 skos:exactMatch UMLS:C2681177 Unspecified CARNS1 +OMIM:613368 skos:exactMatch HGNC_symbol:CARNS1 Unspecified CARNS1 +OMIM:613367 skos:exactMatch UMLS:C1825821 Unspecified LIN54 +OMIM:613367 skos:exactMatch HGNC:25397 Unspecified LIN54 +OMIM:613367 skos:exactMatch HGNC_symbol:LIN54 Unspecified LIN54 +OMIM:613366 skos:exactMatch UMLS:C1822739 Unspecified SLC10A6 +OMIM:613366 skos:exactMatch HGNC:30603 Unspecified SLC10A6 +OMIM:613366 skos:exactMatch HGNC_symbol:SLC10A6 Unspecified SLC10A6 +OMIM:613376 skos:exactMatch UMLS:C3150619 Unspecified neuronopathy, distal hereditary motor, iia 2c +OMIM:613375 skos:exactMatch ORPHA:552 Unspecified maturity-onset diabetes of the young, iia 11 +OMIM:613375 skos:exactMatch UMLS:C3150618 Unspecified maturity-onset diabetes of the young, iia 11 +OMIM:613374 skos:exactMatch HGNC:25156 Unspecified CCDC101 +OMIM:613374 skos:exactMatch HGNC_symbol:SGF29 Unspecified CCDC101 +OMIM:613374 skos:exactMatch UMLS:C1824628 Unspecified CCDC101 +OMIM:613373 skos:exactMatch HGNC_symbol:YEATS2 Unspecified YEATS2 +OMIM:613373 skos:exactMatch HGNC:25489 Unspecified YEATS2 +OMIM:613373 skos:exactMatch UMLS:C1538125 Unspecified YEATS2 +OMIM:613372 skos:exactMatch UMLS:C1427868 Unspecified UFL1 +OMIM:613372 skos:exactMatch HGNC:23039 Unspecified UFL1 +OMIM:613372 skos:exactMatch HGNC_symbol:UFL1 Unspecified UFL1 +OMIM:613371 skos:exactMatch UMLS:C2936793 Unspecified spinocerebellar ataxia 30 +OMIM:613370 skos:exactMatch UMLS:C3150617 Unspecified maturity-onset diabetes of the young, iia 10 +OMIM:601390 skos:exactMatch UMLS:C4551950 Unspecified van maldergem syndrome 1 +OMIM:601391 skos:exactMatch HGNC_symbol:CCL13 Unspecified CCL13 +OMIM:601391 skos:exactMatch UMLS:C1332677 Unspecified CCL13 +OMIM:601391 skos:exactMatch HGNC:10611 Unspecified CCL13 +OMIM:185900 skos:exactMatch ORPHA:1527 Unspecified chromosome 2q35 duplication syndrome +OMIM:185900 skos:exactMatch ORPHA:93402 Unspecified chromosome 2q35 duplication syndrome +OMIM:185900 skos:exactMatch UMLS:C1861380 Unspecified chromosome 2q35 duplication syndrome +OMIM:601392 skos:exactMatch HGNC_symbol:CCL14 Unspecified CCL14 +OMIM:601392 skos:exactMatch UMLS:C1332678 Unspecified CCL14 +OMIM:601392 skos:exactMatch HGNC:10612 Unspecified CCL14 +OMIM:601393 skos:exactMatch HGNC_symbol:CCL15 Unspecified CCL15 +OMIM:601393 skos:exactMatch UMLS:C1332679 Unspecified CCL15 +OMIM:601393 skos:exactMatch HGNC:10613 Unspecified CCL15 +OMIM:601394 skos:exactMatch HGNC_symbol:CCL16 Unspecified CCL16 +OMIM:601394 skos:exactMatch UMLS:C1419876 Unspecified CCL16 +OMIM:601394 skos:exactMatch HGNC:10614 Unspecified CCL16 +OMIM:601395 skos:exactMatch UMLS:C1332689 Unspecified CCL3L1 +OMIM:601395 skos:exactMatch HGNC:10628 Unspecified CCL3L1 +OMIM:601395 skos:exactMatch HGNC_symbol:CCL3L1 Unspecified CCL3L1 +OMIM:601396 skos:exactMatch HGNC_symbol:WNT8B Unspecified WNT8B +OMIM:601396 skos:exactMatch HGNC:12789 Unspecified WNT8B +OMIM:601396 skos:exactMatch UMLS:C1421519 Unspecified WNT8B +OMIM:601397 skos:exactMatch UMLS:C3810343 Unspecified TBXT +OMIM:601397 skos:exactMatch UMLS:C3891448 Unspecified TBXT +OMIM:601397 skos:exactMatch HGNC:11515 Unspecified TBXT +OMIM:601397 skos:exactMatch UMLS:C1420562 Unspecified TBXT +OMIM:601397 skos:exactMatch HGNC_symbol:TBXT Unspecified TBXT +OMIM:601376 skos:exactMatch UMLS:C1832410 Unspecified chondrodysplasia, lethal, with long bone angulation and mixed bone density +OMIM:601379 skos:exactMatch UMLS:C1832408 Unspecified hunter-mcalpine craniosynostosis syndrome +OMIM:217150 skos:exactMatch UMLS:C1857576 Unspecified contractures, congenital, torticollis, and malignant hyperthermia +OMIM:173900 skos:exactMatch UMLS:C0085413 Unspecified polycystic kidney disease 1 with or without polycystic liver disease +OMIM:173900 skos:exactMatch UMLS:C3149841 Unspecified polycystic kidney disease 1 with or without polycystic liver disease +OMIM:613359 skos:exactMatch HGNC_symbol:LYPD6 Unspecified LYPD6 +OMIM:613359 skos:exactMatch UMLS:C1825921 Unspecified LYPD6 +OMIM:613359 skos:exactMatch HGNC:28751 Unspecified LYPD6 +OMIM:613358 skos:exactMatch HGNC:28114 Unspecified ALDH16A1 +OMIM:613358 skos:exactMatch UMLS:C1538261 Unspecified ALDH16A1 +OMIM:613358 skos:exactMatch HGNC_symbol:ALDH16A1 Unspecified ALDH16A1 +OMIM:613357 skos:exactMatch UMLS:C1428535 Unspecified FIBCD1 +OMIM:613357 skos:exactMatch HGNC_symbol:FIBCD1 Unspecified FIBCD1 +OMIM:613357 skos:exactMatch HGNC:25922 Unspecified FIBCD1 +OMIM:613356 skos:exactMatch HGNC:22200 Unspecified TRIL +OMIM:613356 skos:exactMatch UMLS:C3146763 Unspecified TRIL +OMIM:613356 skos:exactMatch HGNC_symbol:TRIL Unspecified TRIL +OMIM:613355 skos:exactMatch UMLS:C3150607 Unspecified chromosome 17q23.1-q23.2 deletion syndrome +OMIM:613365 skos:exactMatch HGNC_symbol:SLCO6A1 Unspecified SLCO6A1 +OMIM:613365 skos:exactMatch HGNC:23613 Unspecified SLCO6A1 +OMIM:613365 skos:exactMatch UMLS:C1428159 Unspecified SLCO6A1 +OMIM:613364 skos:exactMatch UMLS:C3888208 Unspecified spastic paraplegia 41, autosomal dominant +OMIM:613363 skos:exactMatch UMLS:C1428686 Unspecified WDR34 +OMIM:613363 skos:exactMatch HGNC:28296 Unspecified WDR34 +OMIM:613363 skos:exactMatch HGNC_symbol:DYNC2I2 Unspecified WDR34 +OMIM:613362 skos:exactMatch HGNC_symbol:CINP Unspecified CINP +OMIM:613362 skos:exactMatch UMLS:C2829164 Unspecified CINP +OMIM:613362 skos:exactMatch HGNC:23789 Unspecified CINP +OMIM:613361 skos:exactMatch UMLS:C1427620 Unspecified SLC18B1 +OMIM:613361 skos:exactMatch HGNC_symbol:SLC18B1 Unspecified SLC18B1 +OMIM:613361 skos:exactMatch HGNC:21573 Unspecified SLC18B1 +OMIM:613360 skos:exactMatch UMLS:C1823338 Unspecified DRAM2 +OMIM:613360 skos:exactMatch HGNC:28769 Unspecified DRAM2 +OMIM:613360 skos:exactMatch HGNC_symbol:DRAM2 Unspecified DRAM2 +OMIM:146300 skos:exactMatch ORPHA:436 Unspecified hypophosphatasia, adult +OMIM:146300 skos:exactMatch ORPHA:247676 Unspecified hypophosphatasia, adult +OMIM:146300 skos:exactMatch ORPHA:247685 Unspecified hypophosphatasia, adult +OMIM:146300 skos:exactMatch UMLS:C0268413 Unspecified hypophosphatasia, adult +OMIM:229120 skos:exactMatch UMLS:C0795944 Unspecified fountain syndrome +OMIM:601380 skos:exactMatch HGNC:3224 Unspecified EFNA4 +OMIM:601380 skos:exactMatch HGNC_symbol:EFNA4 Unspecified EFNA4 +OMIM:601380 skos:exactMatch UMLS:C1414303 Unspecified EFNA4 +OMIM:601381 skos:exactMatch HGNC:3223 Unspecified EFNA3 +OMIM:601381 skos:exactMatch HGNC_symbol:EFNA3 Unspecified EFNA3 +OMIM:601381 skos:exactMatch UMLS:C1414302 Unspecified EFNA3 +OMIM:601382 skos:exactMatch UMLS:C1832399 Unspecified charcot-marie-tooth disease, iia 4b1 +OMIM:601383 skos:exactMatch UMLS:C1412496 Unspecified AQP6 +OMIM:601383 skos:exactMatch HGNC_symbol:AQP6 Unspecified AQP6 +OMIM:601383 skos:exactMatch HGNC:639 Unspecified AQP6 +OMIM:601384 skos:exactMatch UMLS:C1334353 Unspecified LY6E +OMIM:601384 skos:exactMatch HGNC:6727 Unspecified LY6E +OMIM:601384 skos:exactMatch HGNC_symbol:LY6E Unspecified LY6E +OMIM:601385 skos:exactMatch UMLS:C1428945 Unspecified TUSC3 +OMIM:601385 skos:exactMatch HGNC:30242 Unspecified TUSC3 +OMIM:601385 skos:exactMatch HGNC_symbol:TUSC3 Unspecified TUSC3 +OMIM:601386 skos:exactMatch UMLS:C1832394 Unspecified deafness, autosomal recessive 12 +OMIM:601365 skos:exactMatch UMLS:C1414199 Unspecified DVL1 +OMIM:601365 skos:exactMatch HGNC_symbol:DVL1 Unspecified DVL1 +OMIM:601365 skos:exactMatch HGNC:3084 Unspecified DVL1 +OMIM:161950 skos:exactMatch UMLS:C3160719 Unspecified iga nephropathy, susceptibility to, 1 +OMIM:601366 skos:exactMatch HGNC_symbol:SMAD2 Unspecified SMAD2 +OMIM:601366 skos:exactMatch UMLS:C2986382 Unspecified SMAD2 +OMIM:601366 skos:exactMatch UMLS:C1334468 Unspecified SMAD2 +OMIM:601366 skos:exactMatch HGNC:6768 Unspecified SMAD2 +OMIM:601367 skos:exactMatch UMLS:C0948008 Unspecified stroke, ischemic +OMIM:601368 skos:exactMatch HGNC:3087 Unspecified DVL3 +OMIM:601368 skos:exactMatch UMLS:C1414202 Unspecified DVL3 +OMIM:601368 skos:exactMatch HGNC_symbol:DVL3 Unspecified DVL3 +OMIM:601369 skos:exactMatch UMLS:C1832425 Unspecified deafness, autosomal dominant 9 +OMIM:158300 skos:exactMatch UMLS:C0265226 Unspecified arthrogryposis, distal, iia 7 +OMIM:613349 skos:exactMatch UMLS:C1417917 Unspecified OAT +OMIM:613349 skos:exactMatch HGNC:8091 Unspecified OAT +OMIM:613349 skos:exactMatch HGNC_symbol:OAT Unspecified OAT +OMIM:613348 skos:exactMatch UMLS:C3150547 Unspecified pancreatic cancer, susceptibility to, 3 +OMIM:613347 skos:exactMatch UMLS:C3150546 Unspecified pancreatic cancer, susceptibility to, 2 +OMIM:613346 skos:exactMatch HGNC_symbol:SHISA9 Unspecified SHISA9 +OMIM:613346 skos:exactMatch UMLS:C2750060 Unspecified SHISA9 +OMIM:613346 skos:exactMatch HGNC:37231 Unspecified SHISA9 +OMIM:613345 skos:exactMatch UMLS:C2750061 Unspecified hypokalemic periodic paralysis, iia 2 +OMIM:613344 skos:exactMatch HGNC:22219 Unspecified KIAA1549 +OMIM:613344 skos:exactMatch HGNC_symbol:KIAA1549 Unspecified KIAA1549 +OMIM:613344 skos:exactMatch UMLS:C2681629 Unspecified KIAA1549 +OMIM:613354 skos:exactMatch UMLS:C1428630 Unspecified TPRN +OMIM:613354 skos:exactMatch HGNC_symbol:TPRN Unspecified TPRN +OMIM:613354 skos:exactMatch HGNC:26894 Unspecified TPRN +OMIM:613353 skos:exactMatch UMLS:C3150596 Unspecified mononeuropathy of the median nerve, mild +OMIM:613352 skos:exactMatch HGNC_symbol:RSRC1 Unspecified RSRC1 +OMIM:613352 skos:exactMatch HGNC:24152 Unspecified RSRC1 +OMIM:613352 skos:exactMatch UMLS:C1539709 Unspecified RSRC1 +OMIM:256720 skos:exactMatch UMLS:C1850465 Unspecified neurologic disease, infantile multisystem, with osseous fragility +OMIM:613351 skos:exactMatch UMLS:C1427261 Unspecified ARHGAP18 +OMIM:613351 skos:exactMatch HGNC_symbol:ARHGAP18 Unspecified ARHGAP18 +OMIM:613351 skos:exactMatch HGNC:21035 Unspecified ARHGAP18 +OMIM:613350 skos:exactMatch HGNC:16187 Unspecified SLC52A3 +OMIM:613350 skos:exactMatch HGNC_symbol:SLC52A3 Unspecified SLC52A3 +OMIM:613350 skos:exactMatch UMLS:C0796274 Unspecified SLC52A3 +OMIM:613350 skos:exactMatch UMLS:C1424064 Unspecified SLC52A3 +OMIM:613350 skos:exactMatch UMLS:C4017306 Unspecified SLC52A3 +OMIM:613350 skos:exactMatch UMLS:C0015708 Unspecified SLC52A3 +OMIM:601370 skos:exactMatch UMLS:C1832424 Unspecified holoprosencephaly, semilobar, with craniosynostosis +OMIM:601371 skos:exactMatch UMLS:C1832423 Unspecified cataract, age-related nuclear +OMIM:601372 skos:exactMatch UMLS:C1832422 Unspecified chorea, remitting, with nystagmus and cataract +OMIM:601373 skos:exactMatch UMLS:C1836031 Unspecified CCR5 +OMIM:601373 skos:exactMatch UMLS:C1836230 Unspecified CCR5 +OMIM:601373 skos:exactMatch HGNC_symbol:CCR5 Unspecified CCR5 +OMIM:601373 skos:exactMatch HGNC:1606 Unspecified CCR5 +OMIM:601373 skos:exactMatch UMLS:C1835867 Unspecified CCR5 +OMIM:601373 skos:exactMatch UMLS:C2677247 Unspecified CCR5 +OMIM:601373 skos:exactMatch UMLS:C4017844 Unspecified CCR5 +OMIM:601373 skos:exactMatch UMLS:C1332700 Unspecified CCR5 +OMIM:601373 skos:exactMatch UMLS:C4016731 Unspecified CCR5 +OMIM:601373 skos:exactMatch UMLS:C4016730 Unspecified CCR5 +OMIM:601373 skos:exactMatch UMLS:C4016729 Unspecified CCR5 +OMIM:601373 skos:exactMatch UMLS:C4016727 Unspecified CCR5 +OMIM:601373 skos:exactMatch UMLS:C4016728 Unspecified CCR5 +OMIM:601374 skos:exactMatch UMLS:C1832412 Unspecified aprosencephaly and cerebellar dysgenesis +OMIM:601375 skos:exactMatch UMLS:C1832411 Unspecified ectodermal dysplasia, hidrotic, christianson-fourie iia +OMIM:601355 skos:exactMatch UMLS:C1832436 Unspecified microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs +OMIM:601356 skos:exactMatch UMLS:C1832435 Unspecified lethal short-limb skeletal dysplasia, al gazali iia +OMIM:601357 skos:exactMatch UMLS:C1832434 Unspecified brachial amelia, cleft lip, and holoprosencephaly +OMIM:601358 skos:exactMatch UMLS:C1303073 Unspecified nicolaides-baraitser syndrome +OMIM:613339 skos:exactMatch UMLS:C4551550 Unspecified epilepsy, hot water, 1 +OMIM:613338 skos:exactMatch UMLS:C2239674 Unspecified MARCHF11 +OMIM:613338 skos:exactMatch HGNC_symbol:MARCHF11 Unspecified MARCHF11 +OMIM:613338 skos:exactMatch HGNC:33609 Unspecified MARCHF11 +OMIM:613337 skos:exactMatch HGNC_symbol:MARCHF10 Unspecified MARCHF10 +OMIM:613337 skos:exactMatch UMLS:C1826841 Unspecified MARCHF10 +OMIM:613337 skos:exactMatch HGNC:26655 Unspecified MARCHF10 +OMIM:613336 skos:exactMatch UMLS:C1537664 Unspecified MARCHF9 +OMIM:613336 skos:exactMatch HGNC_symbol:MARCHF9 Unspecified MARCHF9 +OMIM:613336 skos:exactMatch HGNC:25139 Unspecified MARCHF9 +OMIM:268700 skos:exactMatch ORPHA:3124 Unspecified saccharopinuria +OMIM:268700 skos:exactMatch UMLS:C0268556 Unspecified saccharopinuria +OMIM:613335 skos:exactMatch HGNC:23356 Unspecified MARCHF8 +OMIM:613335 skos:exactMatch UMLS:C1537663 Unspecified MARCHF8 +OMIM:613335 skos:exactMatch HGNC_symbol:MARCHF8 Unspecified MARCHF8 +OMIM:613334 skos:exactMatch UMLS:C1537662 Unspecified MARCHF7 +OMIM:613334 skos:exactMatch HGNC:17393 Unspecified MARCHF7 +OMIM:613334 skos:exactMatch HGNC_symbol:MARCHF7 Unspecified MARCHF7 +OMIM:613333 skos:exactMatch UMLS:C1537658 Unspecified MARCHF3 +OMIM:613333 skos:exactMatch HGNC_symbol:MARCHF3 Unspecified MARCHF3 +OMIM:613333 skos:exactMatch HGNC:28728 Unspecified MARCHF3 +OMIM:615995 skos:exactMatch UMLS:C3806174 Unspecified bardet-biedl syndrome 18 +OMIM:613343 skos:exactMatch UMLS:C3150545 Unspecified handigodu joint disease +OMIM:615996 skos:exactMatch UMLS:C3889475 Unspecified bardet-biedl syndrome 19 +OMIM:613342 skos:exactMatch UMLS:C2931420 Unspecified mseleni joint disease +OMIM:256731 skos:exactMatch ORPHA:168491 Unspecified ceroid lipofuscinosis, neuronal, 5 +OMIM:256731 skos:exactMatch ORPHA:228360 Unspecified ceroid lipofuscinosis, neuronal, 5 +OMIM:256731 skos:exactMatch UMLS:C1850442 Unspecified ceroid lipofuscinosis, neuronal, 5 +OMIM:615997 skos:exactMatch HGNC:18099 Unspecified DEFB119 +OMIM:615997 skos:exactMatch HGNC_symbol:DEFB119 Unspecified DEFB119 +OMIM:615997 skos:exactMatch UMLS:C4014916 Unspecified DEFB119 +OMIM:615997 skos:exactMatch UMLS:C4014917 Unspecified DEFB119 +OMIM:615997 skos:exactMatch UMLS:C1425307 Unspecified DEFB119 +OMIM:613341 skos:exactMatch UMLS:C2750064 Unspecified leber congenital amaurosis 14 +OMIM:613341 skos:exactMatch UMLS:C2750063 Unspecified leber congenital amaurosis 14 +OMIM:613341 skos:exactMatch UMLS:C2750065 Unspecified leber congenital amaurosis 14 +OMIM:256730 skos:exactMatch UMLS:C2931673 Unspecified ceroid lipofuscinosis, neuronal, 1 +OMIM:256730 skos:exactMatch UMLS:C0268281 Unspecified ceroid lipofuscinosis, neuronal, 1 +OMIM:256730 skos:exactMatch UMLS:C1850451 Unspecified ceroid lipofuscinosis, neuronal, 1 +OMIM:613340 skos:exactMatch UMLS:C3150536 Unspecified epilepsy, hot water, 2 +OMIM:615998 skos:exactMatch HGNC_symbol:RNF10 Unspecified RNF10 +OMIM:615998 skos:exactMatch HGNC:10055 Unspecified RNF10 +OMIM:615998 skos:exactMatch UMLS:C1419414 Unspecified RNF10 +OMIM:615999 skos:exactMatch UMLS:C0342185 Unspecified hyperthyroxinemia, familial dysalbuminemic +OMIM:601360 skos:exactMatch ORPHA:1027 Unspecified amelia, posterior, with pelvic and pulmonary hypoplasia syndrome +OMIM:601360 skos:exactMatch UMLS:C1832432 Unspecified amelia, posterior, with pelvic and pulmonary hypoplasia syndrome +OMIM:601361 skos:exactMatch HGNC_symbol:GDF10 Unspecified GDF10 +OMIM:601361 skos:exactMatch UMLS:C1333665 Unspecified GDF10 +OMIM:601361 skos:exactMatch HGNC:4215 Unspecified GDF10 +OMIM:601362 skos:exactMatch UMLS:C1832431 Unspecified digeorge syndrome/velocardiofacial syndrome complex 2 +OMIM:601363 skos:exactMatch UMLS:C1832426 Unspecified wilms tumor 4 +OMIM:601364 skos:exactMatch HGNC:1753 Unspecified CDH13 +OMIM:601364 skos:exactMatch HGNC_symbol:CDH13 Unspecified CDH13 +OMIM:601364 skos:exactMatch UMLS:C1332728 Unspecified CDH13 +OMIM:134350 skos:exactMatch HGNC_symbol:CFD Unspecified CFD +OMIM:134350 skos:exactMatch UMLS:C1824729 Unspecified CFD +OMIM:134350 skos:exactMatch HGNC:2771 Unspecified CFD +OMIM:158320 skos:exactMatch UMLS:C1321489 Unspecified muir-torre syndrome +OMIM:217100 skos:exactMatch UMLS:C1857583 Unspecified constricting bands, congenital +OMIM:217100 skos:exactMatch UMLS:C1857577 Unspecified constricting bands, congenital +OMIM:217100 skos:exactMatch UMLS:C1857578 Unspecified constricting bands, congenital +OMIM:217100 skos:exactMatch UMLS:C0220724 Unspecified constricting bands, congenital +OMIM:207780 skos:exactMatch UMLS:C0342280 Unspecified aredyld +OMIM:256700 skos:exactMatch UMLS:C2749485 Unspecified neuroblastoma, susceptibility to, 1 +OMIM:256700 skos:exactMatch UMLS:C2749484 Unspecified neuroblastoma, susceptibility to, 1 +OMIM:158310 skos:exactMatch ORPHA:1839 Unspecified mucoepithelial dysplasia, hereditary +OMIM:158310 skos:exactMatch UMLS:C1274795 Unspecified mucoepithelial dysplasia, hereditary +OMIM:613399 skos:exactMatch UMLS:C3150661 Unspecified breast-ovarian cancer, familial, susceptibility to, 3 +OMIM:613399 skos:exactMatch UMLS:C3150660 Unspecified breast-ovarian cancer, familial, susceptibility to, 3 +OMIM:613399 skos:exactMatch UMLS:C3150659 Unspecified breast-ovarian cancer, familial, susceptibility to, 3 +OMIM:207790 skos:exactMatch UMLS:C0751615 Unspecified arachnoid cysts, intracranial +OMIM:134370 skos:exactMatch HGNC_symbol:CFH Unspecified CFH +OMIM:134370 skos:exactMatch UMLS:C1538440 Unspecified CFH +OMIM:134370 skos:exactMatch HGNC:4883 Unspecified CFH +OMIM:256710 skos:exactMatch UMLS:C1860157 Unspecified elejalde disease +OMIM:158340 skos:exactMatch HGNC:7508 Unspecified MUC1 +OMIM:158340 skos:exactMatch HGNC_symbol:MUC1 Unspecified MUC1 +OMIM:158340 skos:exactMatch UMLS:C1417490 Unspecified MUC1 +OMIM:158343 skos:exactMatch HGNC:51 Unspecified ABCC1 +OMIM:158343 skos:exactMatch UMLS:C0919458 Unspecified ABCC1 +OMIM:158343 skos:exactMatch UMLS:C5394499 Unspecified ABCC1 +OMIM:158343 skos:exactMatch HGNC_symbol:ABCC1 Unspecified ABCC1 +OMIM:134371 skos:exactMatch HGNC_symbol:CFHR1 Unspecified CFHR1 +OMIM:134371 skos:exactMatch UMLS:C1538441 Unspecified CFHR1 +OMIM:134371 skos:exactMatch HGNC:4888 Unspecified CFHR1 +OMIM:158345 skos:exactMatch UMLS:C1834724 Unspecified multiple exostoses with spastic tetraparesis +OMIM:613389 skos:exactMatch HGNC_symbol:SLCO1C1 Unspecified SLCO1C1 +OMIM:613389 skos:exactMatch HGNC:13819 Unspecified SLCO1C1 +OMIM:613389 skos:exactMatch UMLS:C1422214 Unspecified SLCO1C1 +OMIM:613388 skos:exactMatch UMLS:C3150652 Unspecified fanconi renotubular syndrome 2 +OMIM:613398 skos:exactMatch UMLS:C3150658 Unspecified warsaw breakage syndrome +OMIM:613398 skos:exactMatch ORPHA:280558 Unspecified warsaw breakage syndrome +OMIM:613397 skos:exactMatch HGNC:14188 Unspecified AVIL +OMIM:613397 skos:exactMatch UMLS:C1422473 Unspecified AVIL +OMIM:613397 skos:exactMatch HGNC_symbol:AVIL Unspecified AVIL +OMIM:146350 skos:exactMatch UMLS:C1840321 Unspecified hypophosphatemic bone disease +OMIM:613396 skos:exactMatch UMLS:C1424496 Unspecified DSCR8 +OMIM:613396 skos:exactMatch HGNC_symbol:DSCR8 Unspecified DSCR8 +OMIM:613396 skos:exactMatch HGNC:16707 Unspecified DSCR8 +OMIM:613395 skos:exactMatch HGNC:31525 Unspecified MIR138-2 +OMIM:613395 skos:exactMatch UMLS:C1537792 Unspecified MIR138-2 +OMIM:613395 skos:exactMatch HGNC_symbol:MIR138-2 Unspecified MIR138-2 +OMIM:613394 skos:exactMatch HGNC:31524 Unspecified MIR138-1 +OMIM:613394 skos:exactMatch UMLS:C1537791 Unspecified MIR138-1 +OMIM:613394 skos:exactMatch HGNC_symbol:MIR138-1 Unspecified MIR138-1 +OMIM:613393 skos:exactMatch UMLS:C3150657 Unspecified birbeck granule deficiency +OMIM:613392 skos:exactMatch UMLS:C3160740 Unspecified deafness, autosomal recessive 85 +OMIM:613391 skos:exactMatch UMLS:C3150654 Unspecified deafness, autosomal recessive 84a +OMIM:613390 skos:exactMatch UMLS:C3150653 Unspecified fanconi anemia, complementation group o +OMIM:158350 skos:exactMatch UMLS:C1834712 Unspecified cowden syndrome 1 +OMIM:158350 skos:exactMatch UMLS:C1834711 Unspecified cowden syndrome 1 +OMIM:158350 skos:exactMatch UMLS:C0391826 Unspecified cowden syndrome 1 +OMIM:158350 skos:exactMatch UMLS:C1959582 Unspecified cowden syndrome 1 +OMIM:158350 skos:exactMatch UMLS:C1866398 Unspecified cowden syndrome 1 +OMIM:158350 skos:exactMatch UMLS:C0018553 Unspecified cowden syndrome 1 +OMIM:601398 skos:exactMatch HGNC:12681 Unspecified VEGFB +OMIM:601398 skos:exactMatch UMLS:C1421446 Unspecified VEGFB +OMIM:601398 skos:exactMatch HGNC_symbol:VEGFB Unspecified VEGFB +OMIM:158330 skos:exactMatch UMLS:C2675014 Unspecified mullerian aplasia and hyperandrogenism +OMIM:601399 skos:exactMatch UMLS:C1832388 Unspecified platelet disorder, familial, with associated myeloid malignancy +OMIM:613379 skos:exactMatch UMLS:C1824759 Unspecified CMBL +OMIM:613379 skos:exactMatch HGNC_symbol:CMBL Unspecified CMBL +OMIM:613379 skos:exactMatch HGNC:25090 Unspecified CMBL +OMIM:613378 skos:exactMatch HGNC_symbol:GGACT Unspecified A2LD1 +OMIM:613378 skos:exactMatch HGNC:25100 Unspecified A2LD1 +OMIM:613378 skos:exactMatch UMLS:C2681400 Unspecified A2LD1 +OMIM:613377 skos:exactMatch UMLS:C1428570 Unspecified SH3RF2 +OMIM:613377 skos:exactMatch HGNC:26299 Unspecified SH3RF2 +OMIM:613377 skos:exactMatch HGNC_symbol:SH3RF2 Unspecified SH3RF2 +OMIM:613387 skos:exactMatch UMLS:C3150651 Unspecified fatty liver disease, nonalcoholic, susceptibility to, 2 +OMIM:613386 skos:exactMatch HGNC_symbol:POMP Unspecified POMP +OMIM:613386 skos:exactMatch UMLS:C1826645 Unspecified POMP +OMIM:613386 skos:exactMatch HGNC:20330 Unspecified POMP +OMIM:229100 skos:exactMatch ORPHA:51208 Unspecified glutamate formiminotransferase deficiency +OMIM:229100 skos:exactMatch UMLS:C0268609 Unspecified glutamate formiminotransferase deficiency +OMIM:613385 skos:exactMatch ORPHA:228426 Unspecified autoimmune disease, multisystem, with facial dysmorphism +OMIM:613385 skos:exactMatch UMLS:C3150649 Unspecified autoimmune disease, multisystem, with facial dysmorphism +OMIM:613384 skos:exactMatch HGNC_symbol:CCNL1 Unspecified CCNL1 +OMIM:613384 skos:exactMatch UMLS:C1427008 Unspecified CCNL1 +OMIM:613384 skos:exactMatch HGNC:20569 Unspecified CCNL1 +OMIM:613383 skos:exactMatch HGNC:25185 Unspecified ANKRD54 +OMIM:613383 skos:exactMatch HGNC_symbol:ANKRD54 Unspecified ANKRD54 +OMIM:613383 skos:exactMatch UMLS:C1823688 Unspecified ANKRD54 +OMIM:613382 skos:exactMatch UMLS:C3150644 Unspecified brachydactyly, iia e2 +OMIM:613381 skos:exactMatch HGNC_symbol:CBS Unspecified CBS +OMIM:613381 skos:exactMatch HGNC:1550 Unspecified CBS +OMIM:613381 skos:exactMatch UMLS:C1439329 Unspecified CBS +OMIM:171300 skos:exactMatch ORPHA:29072 Unspecified pheochromocytoma +OMIM:171300 skos:exactMatch UMLS:C0031511 Unspecified pheochromocytoma +OMIM:171300 skos:exactMatch UMLS:C3149711 Unspecified pheochromocytoma +OMIM:613380 skos:exactMatch HGNC:5019 Unspecified HMX3 +OMIM:613380 skos:exactMatch HGNC_symbol:HMX3 Unspecified HMX3 +OMIM:613380 skos:exactMatch UMLS:C1415624 Unspecified HMX3 +OMIM:134390 skos:exactMatch UMLS:C1333522 Unspecified F3 +OMIM:134390 skos:exactMatch HGNC:3541 Unspecified F3 +OMIM:134390 skos:exactMatch HGNC_symbol:F3 Unspecified F3 +OMIM:171450 skos:exactMatch UMLS:C1868391 Unspecified phlebectasia of lips +OMIM:217300 skos:exactMatch UMLS:C1857574 Unspecified cornea plana 2, autosomal recessive +OMIM:229310 skos:exactMatch UMLS:C1856688 Unspecified friedreich ataxia and congenital glaucoma +OMIM:229300 skos:exactMatch UMLS:C1847416 Unspecified friedreich ataxia +OMIM:229300 skos:exactMatch UMLS:C1856689 Unspecified friedreich ataxia +OMIM:171490 skos:exactMatch UMLS:C1335199 Unspecified PDC +OMIM:171490 skos:exactMatch HGNC:8759 Unspecified PDC +OMIM:171490 skos:exactMatch HGNC_symbol:PDC Unspecified PDC +OMIM:220900 skos:exactMatch UMLS:C1857343 Unspecified deafness, congenital, with total albinism +OMIM:122470 skos:exactMatch ORPHA:199 Unspecified cornelia lange lange syndrome 1 +OMIM:122470 skos:exactMatch UMLS:C0270972 Unspecified cornelia lange lange syndrome 1 +OMIM:122470 skos:exactMatch UMLS:C4551851 Unspecified cornelia lange lange syndrome 1 +OMIM:171480 skos:exactMatch UMLS:C1868390 Unspecified phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia +OMIM:207950 skos:exactMatch UMLS:C0555206 Unspecified chiari malformation iia 2 +OMIM:122460 skos:exactMatch UMLS:C1852539 Unspecified human coronavirus sensitivity +OMIM:122450 skos:exactMatch UMLS:C1852541 Unspecified corneal hypesthesia, familial +OMIM:232900 skos:exactMatch UMLS:C1856275 Unspecified glycoprotein storage disease +OMIM:122455 skos:exactMatch UMLS:C1852540 Unspecified coronary artery dissection, spontaneous +OMIM:122440 skos:exactMatch UMLS:C1852542 Unspecified corneodermatoosseous syndrome +OMIM:110450 skos:exactMatch UMLS:C1862554 Unspecified blood group, colton system +OMIM:110450 skos:exactMatch UMLS:C1292295 Unspecified blood group, colton system +OMIM:207900 skos:exactMatch UMLS:C0268547 Unspecified argininosuccinic aciduria +OMIM:109480 skos:exactMatch UMLS:C1412828 Unspecified BSG +OMIM:109480 skos:exactMatch HGNC:1116 Unspecified BSG +OMIM:109480 skos:exactMatch HGNC_symbol:BSG Unspecified BSG +OMIM:122430 skos:exactMatch UMLS:C2930866 Unspecified corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation +OMIM:219900 skos:exactMatch UMLS:C0268626 Unspecified cystinosis, late-onset juvenile or adolescent nephropathic iia +OMIM:601500 skos:exactMatch UMLS:C4310933 Unspecified SMO +OMIM:601500 skos:exactMatch UMLS:C5435677 Unspecified SMO +OMIM:601500 skos:exactMatch UMLS:C3838465 Unspecified SMO +OMIM:601500 skos:exactMatch UMLS:C1364142 Unspecified SMO +OMIM:601500 skos:exactMatch HGNC_symbol:SMO Unspecified SMO +OMIM:601500 skos:exactMatch HGNC:11119 Unspecified SMO +OMIM:601501 skos:exactMatch UMLS:C1422017 Unspecified VPS35 +OMIM:601501 skos:exactMatch HGNC_symbol:VPS35 Unspecified VPS35 +OMIM:601501 skos:exactMatch HGNC:13487 Unspecified VPS35 +OMIM:601502 skos:exactMatch HGNC:3614 Unspecified FCGR1B +OMIM:601502 skos:exactMatch UMLS:C1414551 Unspecified FCGR1B +OMIM:601502 skos:exactMatch HGNC_symbol:FCGR1BP Unspecified FCGR1B +OMIM:601503 skos:exactMatch HGNC:3615 Unspecified FCGR1CP +OMIM:601503 skos:exactMatch UMLS:C1414552 Unspecified FCGR1CP +OMIM:601503 skos:exactMatch HGNC_symbol:FCGR1CP Unspecified FCGR1CP +OMIM:601504 skos:exactMatch UMLS:C1419922 Unspecified SEC14L1 +OMIM:601504 skos:exactMatch HGNC:10698 Unspecified SEC14L1 +OMIM:601504 skos:exactMatch HGNC_symbol:SEC14L1 Unspecified SEC14L1 +OMIM:601505 skos:exactMatch HGNC:12931 Unspecified ZNF146 +OMIM:601505 skos:exactMatch HGNC_symbol:ZNF146 Unspecified ZNF146 +OMIM:601505 skos:exactMatch UMLS:C1421637 Unspecified ZNF146 +OMIM:601506 skos:exactMatch HGNC:7729 Unspecified SEPT2 +OMIM:601506 skos:exactMatch UMLS:C1539746 Unspecified SEPT2 +OMIM:601506 skos:exactMatch HGNC_symbol:SEPTIN2 Unspecified SEPT2 +OMIM:601507 skos:exactMatch HGNC_symbol:AP3S1 Unspecified AP3S1 +OMIM:601507 skos:exactMatch HGNC:2013 Unspecified AP3S1 +OMIM:601507 skos:exactMatch UMLS:C1413445 Unspecified AP3S1 +OMIM:601509 skos:exactMatch HGNC:4248 Unspecified GGH +OMIM:601509 skos:exactMatch UMLS:C1415051 Unspecified GGH +OMIM:601509 skos:exactMatch HGNC_symbol:GGH Unspecified GGH +OMIM:122400 skos:exactMatch UMLS:C1852551 Unspecified epithelial recurrent erosion dystrophy +OMIM:515000 skos:exactMatch UMLS:C1838989 Unspecified chloramphenicol toxicity +OMIM:515000 skos:exactMatch UMLS:C0008170 Unspecified chloramphenicol toxicity +OMIM:301000 skos:exactMatch UMLS:C0043194 Unspecified wiskott-aldrich syndrome +OMIM:301000 skos:exactMatch ORPHA:906 Unspecified wiskott-aldrich syndrome +OMIM:601420 skos:exactMatch UMLS:C1832369 Unspecified microcephaly, corpus callosum dysgenesis, and cleft lip/palate +OMIM:601421 skos:exactMatch HGNC:6215 Unspecified KARS1 +OMIM:601421 skos:exactMatch HGNC_symbol:KARS1 Unspecified KARS1 +OMIM:601421 skos:exactMatch UMLS:C1416540 Unspecified KARS1 +OMIM:601422 skos:exactMatch UMLS:C1423111 Unspecified LUZP1 +OMIM:601422 skos:exactMatch HGNC:14985 Unspecified LUZP1 +OMIM:601422 skos:exactMatch HGNC_symbol:LUZP1 Unspecified LUZP1 +OMIM:301002 skos:exactMatch UMLS:C1823126 Unspecified SRPK3 +OMIM:301002 skos:exactMatch HGNC:11402 Unspecified SRPK3 +OMIM:301002 skos:exactMatch HGNC_symbol:SRPK3 Unspecified SRPK3 +OMIM:601423 skos:exactMatch UMLS:C1442760 Unspecified TDG +OMIM:601423 skos:exactMatch HGNC_symbol:TDG Unspecified TDG +OMIM:601423 skos:exactMatch HGNC:11700 Unspecified TDG +OMIM:301001 skos:exactMatch HGNC:50863 Unspecified DANT1 +OMIM:301001 skos:exactMatch HGNC_symbol:DANT1 Unspecified DANT1 +OMIM:301001 skos:exactMatch UMLS:C4085163 Unspecified DANT1 +OMIM:601424 skos:exactMatch HGNC:8527 Unspecified OXCT1 +OMIM:601424 skos:exactMatch HGNC_symbol:OXCT1 Unspecified OXCT1 +OMIM:601424 skos:exactMatch UMLS:C1538557 Unspecified OXCT1 +OMIM:301004 skos:exactMatch HGNC:50862 Unspecified DANT2 +OMIM:301004 skos:exactMatch HGNC_symbol:DANT2 Unspecified DANT2 +OMIM:301004 skos:exactMatch UMLS:C4085162 Unspecified DANT2 +OMIM:601425 skos:exactMatch HGNC_symbol:TCEA1 Unspecified TCEA1 +OMIM:601425 skos:exactMatch HGNC:11612 Unspecified TCEA1 +OMIM:601425 skos:exactMatch UMLS:C1420622 Unspecified TCEA1 +OMIM:613409 skos:exactMatch UMLS:C1824389 Unspecified LACC1 +OMIM:613409 skos:exactMatch HGNC_symbol:LACC1 Unspecified LACC1 +OMIM:613409 skos:exactMatch HGNC:26789 Unspecified LACC1 +OMIM:613409 skos:exactMatch UMLS:C3495559 Unspecified LACC1 +OMIM:301003 skos:exactMatch HGNC_symbol:GPKOW Unspecified GPKOW +OMIM:301003 skos:exactMatch HGNC:30677 Unspecified GPKOW +OMIM:301003 skos:exactMatch UMLS:C1539601 Unspecified GPKOW +OMIM:301006 skos:exactMatch UMLS:C4538784 Unspecified galloway-mowat syndrome 2, X-linked +OMIM:601426 skos:exactMatch HGNC_symbol:NR2C2 Unspecified NR2C2 +OMIM:601426 skos:exactMatch HGNC:7972 Unspecified NR2C2 +OMIM:601426 skos:exactMatch UMLS:C1417830 Unspecified NR2C2 +OMIM:613408 skos:exactMatch UMLS:C1824649 Unspecified CCDC122 +OMIM:613408 skos:exactMatch HGNC_symbol:CCDC122 Unspecified CCDC122 +OMIM:613408 skos:exactMatch HGNC:26478 Unspecified CCDC122 +OMIM:301005 skos:exactMatch UMLS:C1825316 Unspecified FRMPD3 +OMIM:301005 skos:exactMatch HGNC:29382 Unspecified FRMPD3 +OMIM:301005 skos:exactMatch HGNC_symbol:FRMPD3 Unspecified FRMPD3 +OMIM:613407 skos:exactMatch UMLS:C3150676 Unspecified leprosy, susceptibility to, 6 +OMIM:601427 skos:exactMatch UMLS:C1832362 Unspecified anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis +OMIM:601428 skos:exactMatch HGNC_symbol:RNU4ATAC Unspecified RNU4ATAC +OMIM:601428 skos:exactMatch UMLS:C1846059 Unspecified RNU4ATAC +OMIM:601428 skos:exactMatch UMLS:C0796021 Unspecified RNU4ATAC +OMIM:601428 skos:exactMatch UMLS:C1859452 Unspecified RNU4ATAC +OMIM:601428 skos:exactMatch UMLS:C1832361 Unspecified RNU4ATAC +OMIM:601428 skos:exactMatch HGNC:34016 Unspecified RNU4ATAC +OMIM:613406 skos:exactMatch UMLS:C3150675 Unspecified witteveen-kolk syndrome +OMIM:613406 skos:exactMatch UMLS:C3150674 Unspecified witteveen-kolk syndrome +OMIM:613406 skos:exactMatch UMLS:C4310804 Unspecified witteveen-kolk syndrome +OMIM:301008 skos:exactMatch UMLS:C4538788 Unspecified intellectual developmental disorder, x-linked, syndromic, houge iia +OMIM:613405 skos:exactMatch HGNC:38221 Unspecified MIR2861 +OMIM:613405 skos:exactMatch UMLS:C2829703 Unspecified MIR2861 +OMIM:613405 skos:exactMatch HGNC_symbol:MIR2861 Unspecified MIR2861 +OMIM:601429 skos:exactMatch UMLS:C1832360 Unspecified RNU6ATAC +OMIM:601429 skos:exactMatch HGNC_symbol:RNU6ATAC Unspecified RNU6ATAC +OMIM:601429 skos:exactMatch HGNC:34017 Unspecified RNU6ATAC +OMIM:301007 skos:exactMatch HGNC:29377 Unspecified ZMAT1 +OMIM:301007 skos:exactMatch HGNC_symbol:ZMAT1 Unspecified ZMAT1 +OMIM:301007 skos:exactMatch UMLS:C1538175 Unspecified ZMAT1 +OMIM:613404 skos:exactMatch UMLS:C3150672 Unspecified arthrogryposis, renal dysfunction, and cholestasis 2 +OMIM:301009 skos:exactMatch UMLS:C1538570 Unspecified PAGE5 +OMIM:301009 skos:exactMatch HGNC:29992 Unspecified PAGE5 +OMIM:301009 skos:exactMatch HGNC_symbol:PAGE5 Unspecified PAGE5 +OMIM:613403 skos:exactMatch UMLS:C1823386 Unspecified TMEM127 +OMIM:613403 skos:exactMatch HGNC:26038 Unspecified TMEM127 +OMIM:613403 skos:exactMatch HGNC_symbol:TMEM127 Unspecified TMEM127 +OMIM:613403 skos:exactMatch UMLS:C3149711 Unspecified TMEM127 +OMIM:613402 skos:exactMatch ORPHA:1934 Unspecified microcephaly, seizures, and developmental delay +OMIM:613402 skos:exactMatch UMLS:C3150667 Unspecified microcephaly, seizures, and developmental delay +OMIM:613401 skos:exactMatch HGNC:20347 Unspecified VIPAS39 +OMIM:613401 skos:exactMatch UMLS:C2829040 Unspecified VIPAS39 +OMIM:613401 skos:exactMatch HGNC_symbol:VIPAS39 Unspecified VIPAS39 +OMIM:613400 skos:exactMatch HGNC_symbol:ADI1 Unspecified ADI1 +OMIM:613400 skos:exactMatch HGNC:30576 Unspecified ADI1 +OMIM:613400 skos:exactMatch UMLS:C1826411 Unspecified ADI1 +OMIM:110500 skos:exactMatch UMLS:C1292286 Unspecified blood group, diego system +OMIM:109500 skos:exactMatch UMLS:C1862299 Unspecified basilar impression, primary +OMIM:266280 skos:exactMatch UMLS:C1849453 Unspecified rapadilino syndrome +OMIM:601430 skos:exactMatch HGNC_symbol:UPF1 Unspecified UPF1 +OMIM:601430 skos:exactMatch HGNC:9962 Unspecified UPF1 +OMIM:601430 skos:exactMatch UMLS:C1823600 Unspecified UPF1 +OMIM:301011 skos:exactMatch HGNC:28612 Unspecified TMSB15B +OMIM:301011 skos:exactMatch UMLS:C2680491 Unspecified TMSB15B +OMIM:301011 skos:exactMatch HGNC_symbol:TMSB15B Unspecified TMSB15B +OMIM:601410 skos:exactMatch UMLS:C1832386 Unspecified diabetes mellitus, transient neonatal, 1 +OMIM:601410 skos:exactMatch ORPHA:99886 Unspecified diabetes mellitus, transient neonatal, 1 +OMIM:301010 skos:exactMatch UMLS:C4538795 Unspecified myopia 26, x-linked, female-limited +OMIM:601411 skos:exactMatch HGNC_symbol:SGCD Unspecified SGCD +OMIM:601411 skos:exactMatch UMLS:C1420007 Unspecified SGCD +OMIM:601411 skos:exactMatch HGNC:10807 Unspecified SGCD +OMIM:301013 skos:exactMatch UMLS:C4692652 Unspecified intellectual developmental disorder, X-linked 107 +OMIM:601412 skos:exactMatch UMLS:C1832379 Unspecified deafness, autosomal dominant 7 +OMIM:601412 skos:exactMatch ORPHA:90635 Unspecified deafness, autosomal dominant 7 +OMIM:301012 skos:exactMatch UMLS:C1824833 Unspecified STEEP1 +OMIM:301012 skos:exactMatch HGNC:26239 Unspecified STEEP1 +OMIM:301012 skos:exactMatch HGNC_symbol:STEEP1 Unspecified STEEP1 +OMIM:601413 skos:exactMatch UMLS:C1414052 Unspecified DIO2 +OMIM:601413 skos:exactMatch HGNC:2884 Unspecified DIO2 +OMIM:601413 skos:exactMatch HGNC_symbol:DIO2 Unspecified DIO2 +OMIM:301015 skos:exactMatch UMLS:C4746970 Unspecified hemolytic anemia, congenital, X-linked +OMIM:301014 skos:exactMatch UMLS:C4746956 Unspecified osteogenesis imperfecta, iia 19 +OMIM:601414 skos:exactMatch UMLS:C1832378 Unspecified retinitis pigmentosa 18 +OMIM:301017 skos:exactMatch HGNC_symbol:PPP1R2C Unspecified PPP1R2C +OMIM:301017 skos:exactMatch HGNC:16324 Unspecified PPP1R2C +OMIM:301017 skos:exactMatch UMLS:C1424188 Unspecified PPP1R2C +OMIM:601415 skos:exactMatch HGNC:7548 Unspecified MYBL2 +OMIM:601415 skos:exactMatch HGNC_symbol:MYBL2 Unspecified MYBL2 +OMIM:601415 skos:exactMatch UMLS:C0812291 Unspecified MYBL2 +OMIM:601416 skos:exactMatch HGNC:4927 Unspecified SLC39A7 +OMIM:601416 skos:exactMatch UMLS:C1415558 Unspecified SLC39A7 +OMIM:601416 skos:exactMatch HGNC_symbol:SLC39A7 Unspecified SLC39A7 +OMIM:266265 skos:exactMatch UMLS:C0398739 Unspecified congenital disorder of glycosylation, iia iic +OMIM:301016 skos:exactMatch HGNC:21165 Unspecified RAP2C +OMIM:301016 skos:exactMatch UMLS:C1427380 Unspecified RAP2C +OMIM:301016 skos:exactMatch HGNC_symbol:RAP2C Unspecified RAP2C +OMIM:301019 skos:exactMatch UMLS:C3812627 Unspecified KANTR +OMIM:301019 skos:exactMatch HGNC_symbol:KANTR Unspecified KANTR +OMIM:301019 skos:exactMatch HGNC:49510 Unspecified KANTR +OMIM:601417 skos:exactMatch HGNC:3554 Unspecified HSD17B8 +OMIM:601417 skos:exactMatch HGNC_symbol:HSD17B8 Unspecified HSD17B8 +OMIM:601417 skos:exactMatch UMLS:C1414513 Unspecified HSD17B8 +OMIM:601418 skos:exactMatch HGNC:10448 Unspecified RRBP1 +OMIM:601418 skos:exactMatch HGNC_symbol:RRBP1 Unspecified RRBP1 +OMIM:601418 skos:exactMatch UMLS:C1419757 Unspecified RRBP1 +OMIM:301018 skos:exactMatch UMLS:C4746975 Unspecified deafness, X-linked 7 +OMIM:601419 skos:exactMatch ORPHA:98909 Unspecified myopathy, myofibrillar, 1 +OMIM:601419 skos:exactMatch UMLS:C1832370 Unspecified myopathy, myofibrillar, 1 +OMIM:278250 skos:exactMatch UMLS:C0406587 Unspecified wrinkly skin syndrome +OMIM:266270 skos:exactMatch UMLS:C0796133 Unspecified ramon syndrome +OMIM:301020 skos:exactMatch UMLS:C4746984 Unspecified mitochondrial complex 1 deficiency, nuclear iia 12 +OMIM:601401 skos:exactMatch HGNC_symbol:MLF2 Unspecified MLF2 +OMIM:601401 skos:exactMatch HGNC:7126 Unspecified MLF2 +OMIM:601401 skos:exactMatch UMLS:C1417189 Unspecified MLF2 +OMIM:266250 skos:exactMatch UMLS:C1849471 Unspecified radiculoneuropathy, fatal neonatal +OMIM:601402 skos:exactMatch HGNC_symbol:MLF1 Unspecified MLF1 +OMIM:601402 skos:exactMatch HGNC:7125 Unspecified MLF1 +OMIM:601402 skos:exactMatch UMLS:C1417188 Unspecified MLF1 +OMIM:601403 skos:exactMatch HGNC:2987 Unspecified DOCK1 +OMIM:601403 skos:exactMatch HGNC_symbol:DOCK1 Unspecified DOCK1 +OMIM:601403 skos:exactMatch UMLS:C1333245 Unspecified DOCK1 +OMIM:601404 skos:exactMatch HGNC_symbol:GPR68 Unspecified GPR68 +OMIM:601404 skos:exactMatch UMLS:C1333696 Unspecified GPR68 +OMIM:601404 skos:exactMatch HGNC:4519 Unspecified GPR68 +OMIM:266255 skos:exactMatch UMLS:C1849470 Unspecified radioulnar synostosis, unilateral, with developmental retardation and hypotonia +OMIM:601405 skos:exactMatch HGNC:2523 Unspecified CTRC +OMIM:601405 skos:exactMatch UMLS:C1413808 Unspecified CTRC +OMIM:601405 skos:exactMatch HGNC_symbol:CTRC Unspecified CTRC +OMIM:601406 skos:exactMatch HGNC:1004 Unspecified BCL7A +OMIM:601406 skos:exactMatch HGNC_symbol:BCL7A Unspecified BCL7A +OMIM:601406 skos:exactMatch UMLS:C1332400 Unspecified BCL7A +OMIM:601407 skos:exactMatch UMLS:C1832387 Unspecified iia 2 diabetes mellitus 2 +OMIM:601408 skos:exactMatch UMLS:C4225396 Unspecified KAT6A +OMIM:601408 skos:exactMatch UMLS:C1421709 Unspecified KAT6A +OMIM:601408 skos:exactMatch HGNC:13013 Unspecified KAT6A +OMIM:601408 skos:exactMatch HGNC_symbol:KAT6A Unspecified KAT6A +OMIM:601409 skos:exactMatch UMLS:C5436821 Unspecified KAT5 +OMIM:601409 skos:exactMatch HGNC_symbol:KAT5 Unspecified KAT5 +OMIM:601409 skos:exactMatch HGNC:5275 Unspecified KAT5 +OMIM:601409 skos:exactMatch UMLS:C1333931 Unspecified KAT5 +OMIM:303650 skos:exactMatch UMLS:C0266190 Unspecified colonic atresia +OMIM:601464 skos:exactMatch UMLS:C4017666 Unspecified AFF3 +OMIM:601464 skos:exactMatch HGNC:6473 Unspecified AFF3 +OMIM:601464 skos:exactMatch UMLS:C1708616 Unspecified AFF3 +OMIM:601464 skos:exactMatch UMLS:C1414749 Unspecified AFF3 +OMIM:601464 skos:exactMatch UMLS:C1834585 Unspecified AFF3 +OMIM:601464 skos:exactMatch HGNC_symbol:AFF3 Unspecified AFF3 +OMIM:301044 skos:exactMatch UMLS:C5393312 Unspecified developmental and epileptic encephalopathy 85 with or without midline brain defects +OMIM:301043 skos:exactMatch ORPHA:93925 Unspecified holoprosencephaly 13, X-linked +OMIM:301043 skos:exactMatch UMLS:C5393308 Unspecified holoprosencephaly 13, X-linked +OMIM:301043 skos:exactMatch ORPHA:220386 Unspecified holoprosencephaly 13, X-linked +OMIM:601465 skos:exactMatch HGNC_symbol:DGUOK Unspecified DGUOK +OMIM:601465 skos:exactMatch HGNC:2858 Unspecified DGUOK +OMIM:601465 skos:exactMatch UMLS:C1414038 Unspecified DGUOK +OMIM:301046 skos:exactMatch UMLS:C1538942 Unspecified ARMCX4 +OMIM:301046 skos:exactMatch HGNC_symbol:ARMCX4 Unspecified ARMCX4 +OMIM:301046 skos:exactMatch HGNC:28615 Unspecified ARMCX4 +OMIM:601466 skos:exactMatch UMLS:C0344688 Unspecified patent ductus venosus +OMIM:301045 skos:exactMatch UMLS:C5393313 Unspecified congenital disorder of glycosylation, iia iir +OMIM:601467 skos:exactMatch HGNC:6763 Unspecified MAD2L1 +OMIM:601467 skos:exactMatch UMLS:C1416959 Unspecified MAD2L1 +OMIM:601467 skos:exactMatch HGNC_symbol:MAD2L1 Unspecified MAD2L1 +OMIM:301048 skos:exactMatch HGNC:26094 Unspecified ARMCX6 +OMIM:301048 skos:exactMatch UMLS:C1538944 Unspecified ARMCX6 +OMIM:301048 skos:exactMatch HGNC_symbol:ARMCX6 Unspecified ARMCX6 +OMIM:601468 skos:exactMatch UMLS:C1417039 Unspecified MAT2A +OMIM:601468 skos:exactMatch HGNC:6904 Unspecified MAT2A +OMIM:601468 skos:exactMatch HGNC_symbol:MAT2A Unspecified MAT2A +OMIM:601469 skos:exactMatch HGNC_symbol:PTH2R Unspecified PTH2R +OMIM:601469 skos:exactMatch UMLS:C1419074 Unspecified PTH2R +OMIM:601469 skos:exactMatch HGNC:9609 Unspecified PTH2R +OMIM:301047 skos:exactMatch HGNC:25772 Unspecified ARMCX5 +OMIM:301047 skos:exactMatch UMLS:C1538943 Unspecified ARMCX5 +OMIM:301047 skos:exactMatch HGNC_symbol:ARMCX5 Unspecified ARMCX5 +OMIM:301049 skos:exactMatch UMLS:C1539172 Unspecified TASL +OMIM:301049 skos:exactMatch HGNC:25667 Unspecified TASL +OMIM:301049 skos:exactMatch HGNC_symbol:TASL Unspecified TASL +OMIM:613449 skos:exactMatch UMLS:C1825273 Unspecified FAM128A +OMIM:613449 skos:exactMatch HGNC:33187 Unspecified FAM128A +OMIM:613449 skos:exactMatch HGNC_symbol:MZT2A Unspecified FAM128A +OMIM:613448 skos:exactMatch UMLS:C2681284 Unspecified MZT1 +OMIM:613448 skos:exactMatch HGNC_symbol:MZT1 Unspecified MZT1 +OMIM:613448 skos:exactMatch HGNC:33830 Unspecified MZT1 +OMIM:613447 skos:exactMatch HGNC:25083 Unspecified SPICE1 +OMIM:613447 skos:exactMatch UMLS:C3146551 Unspecified SPICE1 +OMIM:613447 skos:exactMatch HGNC_symbol:SPICE1 Unspecified SPICE1 +OMIM:613446 skos:exactMatch HGNC:26690 Unspecified CEP120 +OMIM:613446 skos:exactMatch HGNC_symbol:CEP120 Unspecified CEP120 +OMIM:613446 skos:exactMatch UMLS:C1824627 Unspecified CEP120 +OMIM:613444 skos:exactMatch UMLS:C3150701 Unspecified chromosome 16p11.2 deletion syndrome, 220-kb +OMIM:613444 skos:exactMatch UMLS:C3150702 Unspecified chromosome 16p11.2 deletion syndrome, 220-kb +OMIM:613444 skos:exactMatch UMLS:C1866432 Unspecified chromosome 16p11.2 deletion syndrome, 220-kb +OMIM:613443 skos:exactMatch UMLS:C4225434 Unspecified neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language +OMIM:613443 skos:exactMatch UMLS:C3150700 Unspecified neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language +OMIM:613453 skos:exactMatch UMLS:C3150704 Unspecified deafness, autosomal recessive 91 +OMIM:613452 skos:exactMatch HGNC_symbol:CATSPERG Unspecified CATSPERG +OMIM:613452 skos:exactMatch UMLS:C1428460 Unspecified CATSPERG +OMIM:613452 skos:exactMatch HGNC:25243 Unspecified CATSPERG +OMIM:613451 skos:exactMatch UMLS:C3150703 Unspecified frontonasal dysplasia 2 +OMIM:613451 skos:exactMatch ORPHA:228390 Unspecified frontonasal dysplasia 2 +OMIM:613450 skos:exactMatch UMLS:C1825274 Unspecified FAM128B +OMIM:613450 skos:exactMatch HGNC_symbol:MZT2B Unspecified FAM128B +OMIM:613450 skos:exactMatch HGNC:25886 Unspecified FAM128B +OMIM:601470 skos:exactMatch HGNC:2558 Unspecified CX3CR1 +OMIM:601470 skos:exactMatch UMLS:C1439296 Unspecified CX3CR1 +OMIM:601470 skos:exactMatch HGNC_symbol:CX3CR1 Unspecified CX3CR1 +OMIM:301051 skos:exactMatch UMLS:C5435745 Unspecified immunodeficiency 74, covid19-related, X-linked +OMIM:601471 skos:exactMatch UMLS:C1832284 Unspecified facial paresis, hereditary congenital, 1 +OMIM:301050 skos:exactMatch UMLS:C4746986 Unspecified alport syndrome 1, X-linked +OMIM:601472 skos:exactMatch UMLS:C1832274 Unspecified charcot-marie-tooth disease, axonal, iia 2d +OMIM:601472 skos:exactMatch ORPHA:99938 Unspecified charcot-marie-tooth disease, axonal, iia 2d +OMIM:301053 skos:exactMatch UMLS:C1826059 Unspecified MIR505 +OMIM:301053 skos:exactMatch HGNC_symbol:MIR505 Unspecified MIR505 +OMIM:301053 skos:exactMatch HGNC:32140 Unspecified MIR505 +OMIM:601473 skos:exactMatch UMLS:C1421830 Unspecified ZNF75A +OMIM:601473 skos:exactMatch HGNC_symbol:ZNF75A Unspecified ZNF75A +OMIM:601473 skos:exactMatch HGNC:13146 Unspecified ZNF75A +OMIM:301052 skos:exactMatch UMLS:C5393318 Unspecified warfarin sensitivity, X-linked +OMIM:301055 skos:exactMatch HGNC_symbol:CPXCR1 Unspecified CPXCR1 +OMIM:301055 skos:exactMatch HGNC:2332 Unspecified CPXCR1 +OMIM:601453 skos:exactMatch UMLS:C0406724 Unspecified trichodental dysplasia +OMIM:301054 skos:exactMatch UMLS:C5435753 Unspecified vexas syndrome +OMIM:601454 skos:exactMatch UMLS:C1832345 Unspecified psoriasis 3, susceptibility to +OMIM:601455 skos:exactMatch UMLS:C1832334 Unspecified charcot-marie-tooth disease, iia 4d +OMIM:301057 skos:exactMatch HGNC:26708 Unspecified CFAP47 +OMIM:301057 skos:exactMatch HGNC_symbol:CFAP47 Unspecified CFAP47 +OMIM:601456 skos:exactMatch HGNC_symbol:MMRN1 Unspecified MMRN1 +OMIM:601456 skos:exactMatch UMLS:C1417215 Unspecified MMRN1 +OMIM:601456 skos:exactMatch HGNC:7178 Unspecified MMRN1 +OMIM:601457 skos:exactMatch UMLS:C1832322 Unspecified severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive +OMIM:134400 skos:exactMatch UMLS:C1851378 Unspecified factor 5 excess with spontaneous thrombosis +OMIM:601458 skos:exactMatch UMLS:C1832321 Unspecified inflammatory bowel disease 2 +OMIM:601459 skos:exactMatch UMLS:C1418716 Unspecified PNOC +OMIM:601459 skos:exactMatch HGNC_symbol:PNOC Unspecified PNOC +OMIM:601459 skos:exactMatch HGNC:9163 Unspecified PNOC +OMIM:613439 skos:exactMatch HGNC:26486 Unspecified CNST +OMIM:613439 skos:exactMatch HGNC_symbol:CNST Unspecified CNST +OMIM:613439 skos:exactMatch UMLS:C1823217 Unspecified CNST +OMIM:613438 skos:exactMatch HGNC_symbol:FCHO2 Unspecified FCHO2 +OMIM:613438 skos:exactMatch HGNC:25180 Unspecified FCHO2 +OMIM:613438 skos:exactMatch UMLS:C1539508 Unspecified FCHO2 +OMIM:613437 skos:exactMatch HGNC_symbol:FCHO1 Unspecified FCHO1 +OMIM:613437 skos:exactMatch HGNC:29002 Unspecified FCHO1 +OMIM:613437 skos:exactMatch UMLS:C1428769 Unspecified FCHO1 +OMIM:613436 skos:exactMatch UMLS:C3150693 Unspecified autism, susceptibility to, 17 +OMIM:613435 skos:exactMatch UMLS:C3150692 Unspecified amyotrophic lateral sclerosis 12 with or without frontotemporal dementia +OMIM:613434 skos:exactMatch HGNC:30532 Unspecified HAUS8 +OMIM:613434 skos:exactMatch UMLS:C2681566 Unspecified HAUS8 +OMIM:613434 skos:exactMatch HGNC_symbol:HAUS8 Unspecified HAUS8 +OMIM:613433 skos:exactMatch HGNC_symbol:HAUS6 Unspecified HAUS6 +OMIM:613433 skos:exactMatch HGNC:25948 Unspecified HAUS6 +OMIM:613433 skos:exactMatch UMLS:C1428538 Unspecified HAUS6 +OMIM:613432 skos:exactMatch HGNC_symbol:HAUS5 Unspecified HAUS5 +OMIM:613432 skos:exactMatch HGNC:29130 Unspecified HAUS5 +OMIM:613432 skos:exactMatch UMLS:C1428793 Unspecified HAUS5 +OMIM:613442 skos:exactMatch UMLS:C2828585 Unspecified PTX4 +OMIM:613442 skos:exactMatch HGNC_symbol:PTX4 Unspecified PTX4 +OMIM:613442 skos:exactMatch HGNC:14171 Unspecified PTX4 +OMIM:613441 skos:exactMatch HGNC:11653 Unspecified TCN2 +OMIM:613441 skos:exactMatch UMLS:C1420653 Unspecified TCN2 +OMIM:613441 skos:exactMatch HGNC_symbol:TCN2 Unspecified TCN2 +OMIM:613440 skos:exactMatch UMLS:C3150694 Unspecified stature quantitative trait locus 21 +OMIM:278200 skos:exactMatch UMLS:C0406718 Unspecified woolly hair, hypotrichosis, everted lower lip, and outstanding ears +OMIM:601460 skos:exactMatch UMLS:C1420129 Unspecified SLCO2A1 +OMIM:601460 skos:exactMatch HGNC:10955 Unspecified SLCO2A1 +OMIM:601460 skos:exactMatch HGNC_symbol:SLCO2A1 Unspecified SLCO2A1 +OMIM:301062 skos:exactMatch HGNC:33139 Unspecified MIR766 +OMIM:301062 skos:exactMatch HGNC_symbol:MIR766 Unspecified MIR766 +OMIM:301061 skos:exactMatch HGNC_symbol:MTMR8 Unspecified MTMR8 +OMIM:301061 skos:exactMatch HGNC:16825 Unspecified MTMR8 +OMIM:601461 skos:exactMatch HGNC_symbol:ATOH1 Unspecified ATOH1 +OMIM:601461 skos:exactMatch HGNC:797 Unspecified ATOH1 +OMIM:601461 skos:exactMatch UMLS:C1412626 Unspecified ATOH1 +OMIM:601462 skos:exactMatch UMLS:C4084823 Unspecified myasthenic syndrome, congenital, 1a, slow-channel +OMIM:301064 skos:exactMatch HGNC:28515 Unspecified MAGEB18 +OMIM:301064 skos:exactMatch HGNC_symbol:MAGEB18 Unspecified MAGEB18 +OMIM:601463 skos:exactMatch HGNC:4818 Unspecified HAS1 +OMIM:601463 skos:exactMatch UMLS:C1456461 Unspecified HAS1 +OMIM:601463 skos:exactMatch HGNC_symbol:HAS1 Unspecified HAS1 +OMIM:301022 skos:exactMatch UMLS:C5193008 Unspecified mullegama-klein-martinez syndrome +OMIM:601442 skos:exactMatch HGNC_symbol:CFL1 Unspecified CFL1 +OMIM:601442 skos:exactMatch HGNC:1874 Unspecified CFL1 +OMIM:601442 skos:exactMatch UMLS:C1413355 Unspecified CFL1 +OMIM:601443 skos:exactMatch HGNC_symbol:CFL2 Unspecified CFL2 +OMIM:601443 skos:exactMatch HGNC:1875 Unspecified CFL2 +OMIM:601443 skos:exactMatch UMLS:C1413356 Unspecified CFL2 +OMIM:301021 skos:exactMatch UMLS:C4746985 Unspecified mitochondrial complex 1 deficiency, nuclear iia 30 +OMIM:601444 skos:exactMatch HGNC:4200 Unspecified BLOC1S1 +OMIM:601444 skos:exactMatch UMLS:C1538324 Unspecified BLOC1S1 +OMIM:601444 skos:exactMatch HGNC_symbol:BLOC1S1 Unspecified BLOC1S1 +OMIM:301024 skos:exactMatch UMLS:C5193009 Unspecified intellectual developmental disorder, X-linked 108 +OMIM:601445 skos:exactMatch HGNC:7704 Unspecified NDUFB9 +OMIM:601445 skos:exactMatch UMLS:C1417641 Unspecified NDUFB9 +OMIM:601445 skos:exactMatch HGNC_symbol:NDUFB9 Unspecified NDUFB9 +OMIM:601445 skos:exactMatch UMLS:C4748803 Unspecified NDUFB9 +OMIM:301023 skos:exactMatch HGNC:32795 Unspecified MIR532 +OMIM:301023 skos:exactMatch UMLS:C1826114 Unspecified MIR532 +OMIM:301023 skos:exactMatch HGNC_symbol:MIR532 Unspecified MIR532 +OMIM:301026 skos:exactMatch UMLS:C1850627 Unspecified keipert syndrome +OMIM:301026 skos:exactMatch ORPHA:2662 Unspecified keipert syndrome +OMIM:301025 skos:exactMatch UMLS:C5193010 Unspecified paganini-miozzo syndrome +OMIM:601447 skos:exactMatch HGNC_symbol:USP5 Unspecified USP5 +OMIM:601447 skos:exactMatch HGNC:12628 Unspecified USP5 +OMIM:601447 skos:exactMatch UMLS:C1421406 Unspecified USP5 +OMIM:301028 skos:exactMatch UMLS:C5193011 Unspecified nephrotic syndrome, iia 20 +OMIM:601448 skos:exactMatch HGNC:7896 Unspecified NPAT +OMIM:601448 skos:exactMatch UMLS:C1417775 Unspecified NPAT +OMIM:601448 skos:exactMatch HGNC_symbol:NPAT Unspecified NPAT +OMIM:613429 skos:exactMatch UMLS:C1824708 Unspecified HAUS2 +OMIM:613429 skos:exactMatch HGNC:25530 Unspecified HAUS2 +OMIM:613429 skos:exactMatch HGNC_symbol:HAUS2 Unspecified HAUS2 +OMIM:540000 skos:exactMatch UMLS:C0162671 Unspecified mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes +OMIM:301027 skos:exactMatch UMLS:C1823241 Unspecified TBC1D8B +OMIM:301027 skos:exactMatch HGNC_symbol:TBC1D8B Unspecified TBC1D8B +OMIM:301027 skos:exactMatch HGNC:24715 Unspecified TBC1D8B +OMIM:601449 skos:exactMatch UMLS:C1832354 Unspecified deafness, progressive, with stapes fixation +OMIM:613428 skos:exactMatch UMLS:C3150691 Unspecified retinitis pigmentosa 54 +OMIM:613427 skos:exactMatch HGNC_symbol:ANAPC16 Unspecified ANAPC16 +OMIM:613427 skos:exactMatch HGNC:26976 Unspecified ANAPC16 +OMIM:613427 skos:exactMatch UMLS:C1538404 Unspecified ANAPC16 +OMIM:301029 skos:exactMatch UMLS:C5193146 Unspecified shukla-vernon syndrome +OMIM:613426 skos:exactMatch UMLS:C1834481 Unspecified cardiomyopathy, dilated, 1s +OMIM:613426 skos:exactMatch UMLS:C3150690 Unspecified cardiomyopathy, dilated, 1s +OMIM:613425 skos:exactMatch HGNC_symbol:PCARE Unspecified PCARE +OMIM:613425 skos:exactMatch UMLS:C2681197 Unspecified PCARE +OMIM:613425 skos:exactMatch HGNC:34383 Unspecified PCARE +OMIM:613424 skos:exactMatch UMLS:C3150681 Unspecified cardiomyopathy, dilated, 1r +OMIM:613424 skos:exactMatch UMLS:C3150682 Unspecified cardiomyopathy, dilated, 1r +OMIM:613423 skos:exactMatch HGNC_symbol:KCTD16 Unspecified KCTD16 +OMIM:613423 skos:exactMatch HGNC:29244 Unspecified KCTD16 +OMIM:613423 skos:exactMatch UMLS:C1428818 Unspecified KCTD16 +OMIM:613422 skos:exactMatch HGNC_symbol:KCTD2 Unspecified KCTD2 +OMIM:613422 skos:exactMatch HGNC:21294 Unspecified KCTD2 +OMIM:613422 skos:exactMatch UMLS:C1427474 Unspecified KCTD2 +OMIM:613421 skos:exactMatch HGNC_symbol:KCTD10 Unspecified KCTD10 +OMIM:613421 skos:exactMatch HGNC:23236 Unspecified KCTD10 +OMIM:613421 skos:exactMatch UMLS:C1428009 Unspecified KCTD10 +OMIM:313000 skos:exactMatch UMLS:C1839262 Unspecified spatial visualization, aptitude for +OMIM:313000 skos:exactMatch UMLS:C1839263 Unspecified spatial visualization, aptitude for +OMIM:613431 skos:exactMatch HGNC_symbol:HAUS4 Unspecified HAUS4 +OMIM:613431 skos:exactMatch HGNC:20163 Unspecified HAUS4 +OMIM:613431 skos:exactMatch UMLS:C1426747 Unspecified HAUS4 +OMIM:613430 skos:exactMatch HGNC_symbol:HAUS3 Unspecified HAUS3 +OMIM:613430 skos:exactMatch UMLS:C1540234 Unspecified HAUS3 +OMIM:613430 skos:exactMatch HGNC:28719 Unspecified HAUS3 +OMIM:601450 skos:exactMatch UMLS:C1832353 Unspecified dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism +OMIM:301030 skos:exactMatch UMLS:C5193012 Unspecified van esch-o'driscoll syndrome +OMIM:601452 skos:exactMatch UMLS:C1832352 Unspecified oculoauriculofrontonasal syndrome +OMIM:601431 skos:exactMatch HGNC_symbol:TRA-TGC7-1 Unspecified TRA-TGC7-1 +OMIM:601431 skos:exactMatch HGNC:12098 Unspecified TRA-TGC7-1 +OMIM:601431 skos:exactMatch UMLS:C1420951 Unspecified TRA-TGC7-1 +OMIM:601432 skos:exactMatch HGNC_symbol:TRR-TCG4-1 Unspecified TRR-TCG4-1 +OMIM:601432 skos:exactMatch HGNC:12345 Unspecified TRR-TCG4-1 +OMIM:601432 skos:exactMatch UMLS:C1421180 Unspecified TRR-TCG4-1 +OMIM:301032 skos:exactMatch UMLS:C5231394 Unspecified basilicata-akhtar syndrome +OMIM:601434 skos:exactMatch HGNC_symbol:SKP1 Unspecified SKP1 +OMIM:601434 skos:exactMatch UMLS:C1420081 Unspecified SKP1 +OMIM:601434 skos:exactMatch HGNC:10899 Unspecified SKP1 +OMIM:301034 skos:exactMatch HGNC_symbol:DHRSX Unspecified DHRSX +OMIM:301034 skos:exactMatch HGNC:18399 Unspecified DHRSX +OMIM:601435 skos:exactMatch UMLS:C1420082 Unspecified SKP1P2 +OMIM:601435 skos:exactMatch HGNC:10900 Unspecified SKP1P2 +OMIM:601435 skos:exactMatch HGNC_symbol:SKP1P2 Unspecified SKP1P2 +OMIM:301037 skos:exactMatch HGNC_symbol:H2AB1 Unspecified H2AB1 +OMIM:301037 skos:exactMatch HGNC:22516 Unspecified H2AB1 +OMIM:601436 skos:exactMatch HGNC_symbol:SKP2 Unspecified SKP2 +OMIM:601436 skos:exactMatch UMLS:C1335831 Unspecified SKP2 +OMIM:601436 skos:exactMatch HGNC:10901 Unspecified SKP2 +OMIM:301036 skos:exactMatch HGNC:33738 Unspecified EZHIP +OMIM:301036 skos:exactMatch HGNC_symbol:EZHIP Unspecified EZHIP +OMIM:613419 skos:exactMatch HGNC_symbol:ZSCAN4 Unspecified ZSCAN4 +OMIM:613419 skos:exactMatch UMLS:C1538256 Unspecified ZSCAN4 +OMIM:613419 skos:exactMatch HGNC:23709 Unspecified ZSCAN4 +OMIM:601437 skos:exactMatch UMLS:C1414557 Unspecified FCGRT +OMIM:601437 skos:exactMatch HGNC_symbol:FCGRT Unspecified FCGRT +OMIM:601437 skos:exactMatch HGNC:3621 Unspecified FCGRT +OMIM:266200 skos:exactMatch ORPHA:766 Unspecified pyruvate kinase deficiency of red cells +OMIM:266200 skos:exactMatch UMLS:C0340968 Unspecified pyruvate kinase deficiency of red cells +OMIM:301039 skos:exactMatch UMLS:C5393302 Unspecified intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia +OMIM:601438 skos:exactMatch UMLS:C1832359 Unspecified rhizomelic dysplasia, patterson-lowry iia +OMIM:613418 skos:exactMatch UMLS:C3150680 Unspecified bone mineral density quantitative trait locus 15 +OMIM:301038 skos:exactMatch HGNC:18298 Unspecified H2AB2 +OMIM:301038 skos:exactMatch HGNC_symbol:H2AB2 Unspecified H2AB2 +OMIM:613417 skos:exactMatch HGNC:20596 Unspecified FAM48A +OMIM:613417 skos:exactMatch UMLS:C1539449 Unspecified FAM48A +OMIM:613417 skos:exactMatch HGNC_symbol:SUPT20H Unspecified FAM48A +OMIM:601439 skos:exactMatch UMLS:C1837839 Unspecified ABCC9 +OMIM:601439 skos:exactMatch HGNC:60 Unspecified ABCC9 +OMIM:601439 skos:exactMatch UMLS:C1412083 Unspecified ABCC9 +OMIM:601439 skos:exactMatch UMLS:C0795905 Unspecified ABCC9 +OMIM:601439 skos:exactMatch UMLS:C3279695 Unspecified ABCC9 +OMIM:601439 skos:exactMatch HGNC_symbol:ABCC9 Unspecified ABCC9 +OMIM:613416 skos:exactMatch HGNC:21695 Unspecified SCIN +OMIM:613416 skos:exactMatch HGNC_symbol:SCIN Unspecified SCIN +OMIM:613416 skos:exactMatch UMLS:C1427702 Unspecified SCIN +OMIM:613415 skos:exactMatch HGNC_symbol:CKMT1A Unspecified CKMT1A +OMIM:613415 skos:exactMatch HGNC:31736 Unspecified CKMT1A +OMIM:613415 skos:exactMatch UMLS:C1538467 Unspecified CKMT1A +OMIM:613414 skos:exactMatch HGNC:33808 Unspecified IL17REL +OMIM:613414 skos:exactMatch UMLS:C2239533 Unspecified IL17REL +OMIM:613414 skos:exactMatch HGNC_symbol:IL17REL Unspecified IL17REL +OMIM:613413 skos:exactMatch UMLS:C1823367 Unspecified TMEM106B +OMIM:613413 skos:exactMatch HGNC_symbol:TMEM106B Unspecified TMEM106B +OMIM:613413 skos:exactMatch HGNC:22407 Unspecified TMEM106B +OMIM:613412 skos:exactMatch UMLS:C3150679 Unspecified esophagitis, eosinophilic, 2 +OMIM:313020 skos:exactMatch HGNC:10540 Unspecified SAT1 +OMIM:313020 skos:exactMatch HGNC_symbol:SAT1 Unspecified SAT1 +OMIM:313020 skos:exactMatch UMLS:C1822614 Unspecified SAT1 +OMIM:613411 skos:exactMatch UMLS:C3150678 Unspecified oguchi disease 2 +OMIM:613410 skos:exactMatch UMLS:C3150677 Unspecified autism, susceptibility to, 16 +OMIM:613420 skos:exactMatch UMLS:C1425395 Unspecified KCTD1 +OMIM:613420 skos:exactMatch UMLS:C1867020 Unspecified KCTD1 +OMIM:613420 skos:exactMatch HGNC:18249 Unspecified KCTD1 +OMIM:613420 skos:exactMatch HGNC_symbol:KCTD1 Unspecified KCTD1 +OMIM:301040 skos:exactMatch UMLS:C1845055 Unspecified alpha-thalassemia/mental retardation syndrome, X-linked +OMIM:301042 skos:exactMatch UMLS:C1539540 Unspecified FUNDC2 +OMIM:301042 skos:exactMatch HGNC:24925 Unspecified FUNDC2 +OMIM:301042 skos:exactMatch HGNC_symbol:FUNDC2 Unspecified FUNDC2 +OMIM:601440 skos:exactMatch UMLS:C1414032 Unspecified DGKE +OMIM:601440 skos:exactMatch HGNC_symbol:DGKE Unspecified DGKE +OMIM:601440 skos:exactMatch HGNC:2852 Unspecified DGKE +OMIM:601441 skos:exactMatch HGNC:2857 Unspecified None +OMIM:601441 skos:exactMatch UMLS:C1414037 Unspecified None +OMIM:601441 skos:exactMatch HGNC_symbol:DGKZ Unspecified None +OMIM:301041 skos:exactMatch UMLS:C5393303 Unspecified wieacker-wolff syndrome, female-restricted +OMIM:268850 skos:exactMatch UMLS:C0796142 Unspecified richieri-costa/guion-almeida syndrome +OMIM:158400 skos:exactMatch UMLS:C1834708 Unspecified muscle cramps, familial +OMIM:134430 skos:exactMatch UMLS:C1851377 Unspecified factor 7 and factor viii, combined deficiency of +OMIM:613489 skos:exactMatch UMLS:C3150736 Unspecified congenital disorder of glycosylation, iia iij +OMIM:613488 skos:exactMatch UMLS:C0206634 Unspecified myxoid liposarcoma +OMIM:613487 skos:exactMatch HGNC_symbol:MIR212 Unspecified MIR212 +OMIM:613487 skos:exactMatch UMLS:C1537848 Unspecified MIR212 +OMIM:613487 skos:exactMatch HGNC:31589 Unspecified MIR212 +OMIM:613497 skos:exactMatch UMLS:C1416865 Unspecified LIPA +OMIM:613497 skos:exactMatch HGNC_symbol:LIPA Unspecified LIPA +OMIM:613497 skos:exactMatch HGNC:6617 Unspecified LIPA +OMIM:256860 skos:exactMatch UMLS:C1850384 Unspecified neuropathy, hereditary sensory, atypical +OMIM:613496 skos:exactMatch UMLS:C3150741 Unspecified immunodeficiency, common variable, 6 +OMIM:254200 skos:exactMatch UMLS:C0026896 Unspecified myasthenia gravis +OMIM:613495 skos:exactMatch ORPHA:1572 Unspecified immunodeficiency, common variable, 5 +OMIM:613495 skos:exactMatch UMLS:C3150740 Unspecified immunodeficiency, common variable, 5 +OMIM:613494 skos:exactMatch UMLS:C3150739 Unspecified immunodeficiency, common variable, 4 +OMIM:613493 skos:exactMatch UMLS:C3150738 Unspecified immunodeficiency, common variable, 3 +OMIM:613492 skos:exactMatch HGNC:23675 Unspecified ACER2 +OMIM:613492 skos:exactMatch HGNC_symbol:ACER2 Unspecified ACER2 +OMIM:613492 skos:exactMatch UMLS:C1540204 Unspecified ACER2 +OMIM:229250 skos:exactMatch UMLS:C1856707 Unspecified freesia flowers, inability to smell +OMIM:613491 skos:exactMatch UMLS:C2681403 Unspecified ACER1 +OMIM:613491 skos:exactMatch HGNC_symbol:ACER1 Unspecified ACER1 +OMIM:613491 skos:exactMatch HGNC:18356 Unspecified ACER1 +OMIM:613490 skos:exactMatch UMLS:C0221757 Unspecified alpha-1-antitrypsin deficiency +OMIM:601497 skos:exactMatch HGNC_symbol:BAG1 Unspecified BAG1 +OMIM:601497 skos:exactMatch HGNC:937 Unspecified BAG1 +OMIM:601497 skos:exactMatch UMLS:C1332371 Unspecified BAG1 +OMIM:601498 skos:exactMatch UMLS:C4693988 Unspecified PEX6 +OMIM:601498 skos:exactMatch UMLS:C3553937 Unspecified PEX6 +OMIM:601498 skos:exactMatch UMLS:C3553936 Unspecified PEX6 +OMIM:601498 skos:exactMatch HGNC:8859 Unspecified PEX6 +OMIM:601498 skos:exactMatch HGNC_symbol:PEX6 Unspecified PEX6 +OMIM:601498 skos:exactMatch UMLS:C1418478 Unspecified PEX6 +OMIM:601498 skos:exactMatch UMLS:C4225267 Unspecified PEX6 +OMIM:601499 skos:exactMatch UMLS:C1832229 Unspecified axenfeld-rieger syndrome, iia 2 +OMIM:613479 skos:exactMatch UMLS:C1538309 Unspecified CEP131 +OMIM:613479 skos:exactMatch HGNC_symbol:CEP131 Unspecified CEP131 +OMIM:613479 skos:exactMatch HGNC:29511 Unspecified CEP131 +OMIM:613478 skos:exactMatch UMLS:C1824634 Unspecified CCDC106 +OMIM:613478 skos:exactMatch HGNC_symbol:CCDC106 Unspecified CCDC106 +OMIM:613478 skos:exactMatch HGNC:30181 Unspecified CCDC106 +OMIM:613477 skos:exactMatch UMLS:C3150731 Unspecified developmental and epileptic encephalopathy 5 +OMIM:613477 skos:exactMatch ORPHA:3451 Unspecified developmental and epileptic encephalopathy 5 +OMIM:613476 skos:exactMatch HGNC_symbol:MFSD6 Unspecified MFSD6 +OMIM:613476 skos:exactMatch UMLS:C2681661 Unspecified MFSD6 +OMIM:613476 skos:exactMatch HGNC:24711 Unspecified MFSD6 +OMIM:613486 skos:exactMatch HGNC_symbol:MIR33B Unspecified MIR33B +OMIM:613486 skos:exactMatch HGNC:32791 Unspecified MIR33B +OMIM:613486 skos:exactMatch UMLS:C1826000 Unspecified MIR33B +OMIM:254210 skos:exactMatch UMLS:C0393929 Unspecified myasthenic syndrome, congenital, 6, presynaptic +OMIM:613485 skos:exactMatch UMLS:C3150733 Unspecified long qt syndrome 13 +OMIM:613484 skos:exactMatch HGNC:17575 Unspecified SPEN +OMIM:613484 skos:exactMatch HGNC_symbol:SPEN Unspecified SPEN +OMIM:613484 skos:exactMatch UMLS:C1539835 Unspecified SPEN +OMIM:613483 skos:exactMatch UMLS:C1420841 Unspecified BHLHE22 +OMIM:613483 skos:exactMatch HGNC_symbol:BHLHE22 Unspecified BHLHE22 +OMIM:613483 skos:exactMatch HGNC:11963 Unspecified BHLHE22 +OMIM:613482 skos:exactMatch UMLS:C1427009 Unspecified CCNL2 +OMIM:613482 skos:exactMatch HGNC:20570 Unspecified CCNL2 +OMIM:613482 skos:exactMatch HGNC_symbol:CCNL2 Unspecified CCNL2 +OMIM:613481 skos:exactMatch UMLS:C1824586 Unspecified None +OMIM:613481 skos:exactMatch HGNC_symbol:CCDC62 Unspecified None +OMIM:613481 skos:exactMatch HGNC:30723 Unspecified None +OMIM:256870 skos:exactMatch UMLS:C1850383 Unspecified neuropathy, painful +OMIM:613480 skos:exactMatch UMLS:C4747646 Unspecified lymphatic malformation 3 +OMIM:601486 skos:exactMatch HGNC_symbol:DAZL Unspecified DAZL +OMIM:601486 skos:exactMatch HGNC:2685 Unspecified DAZL +OMIM:601486 skos:exactMatch UMLS:C1413914 Unspecified DAZL +OMIM:601487 skos:exactMatch HGNC_symbol:PPARG Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C4016737 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C4016738 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C4016735 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C5193186 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C5436966 Unspecified PPARG +OMIM:601487 skos:exactMatch HGNC:9236 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C3276201 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C1720861 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C1335238 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C0028756 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C1832253 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C1832250 Unspecified PPARG +OMIM:601487 skos:exactMatch UMLS:C1832251 Unspecified PPARG +OMIM:601488 skos:exactMatch UMLS:C3151409 Unspecified NCF4 +OMIM:601488 skos:exactMatch HGNC_symbol:NCF4 Unspecified NCF4 +OMIM:601488 skos:exactMatch UMLS:C1417610 Unspecified NCF4 +OMIM:601488 skos:exactMatch HGNC:7662 Unspecified NCF4 +OMIM:601489 skos:exactMatch HGNC:5468 Unspecified IGFALS +OMIM:601489 skos:exactMatch UMLS:C1456383 Unspecified IGFALS +OMIM:601489 skos:exactMatch UMLS:C3900122 Unspecified IGFALS +OMIM:601489 skos:exactMatch HGNC_symbol:IGFALS Unspecified IGFALS +OMIM:613469 skos:exactMatch HGNC_symbol:HPSE2 Unspecified HPSE2 +OMIM:613469 skos:exactMatch HGNC:18374 Unspecified HPSE2 +OMIM:613469 skos:exactMatch UMLS:C1425482 Unspecified HPSE2 +OMIM:613468 skos:exactMatch HGNC_symbol:ASAH1 Unspecified ASAH1 +OMIM:613468 skos:exactMatch HGNC:735 Unspecified ASAH1 +OMIM:613468 skos:exactMatch UMLS:C1412573 Unspecified ASAH1 +OMIM:613467 skos:exactMatch HGNC:25817 Unspecified ZCCHC6 +OMIM:613467 skos:exactMatch UMLS:C1428522 Unspecified ZCCHC6 +OMIM:613467 skos:exactMatch HGNC_symbol:TUT7 Unspecified ZCCHC6 +OMIM:613466 skos:exactMatch UMLS:C1418484 Unspecified PFDN2 +OMIM:613466 skos:exactMatch HGNC_symbol:PFDN2 Unspecified PFDN2 +OMIM:613466 skos:exactMatch HGNC:8867 Unspecified PFDN2 +OMIM:613465 skos:exactMatch HGNC_symbol:NME7 Unspecified NME7 +OMIM:613465 skos:exactMatch HGNC:20461 Unspecified NME7 +OMIM:613465 skos:exactMatch UMLS:C1426952 Unspecified NME7 +OMIM:613475 skos:exactMatch HGNC:21374 Unspecified RRP36 +OMIM:613475 skos:exactMatch UMLS:C1427520 Unspecified RRP36 +OMIM:613475 skos:exactMatch HGNC_symbol:RRP36 Unspecified RRP36 +OMIM:613474 skos:exactMatch HGNC_symbol:ZFAND2B Unspecified ZFAND2B +OMIM:613474 skos:exactMatch UMLS:C1823942 Unspecified ZFAND2B +OMIM:613474 skos:exactMatch HGNC:25206 Unspecified ZFAND2B +OMIM:613473 skos:exactMatch HGNC:13490 Unspecified WDR7 +OMIM:613473 skos:exactMatch UMLS:C1422019 Unspecified WDR7 +OMIM:613473 skos:exactMatch HGNC_symbol:WDR7 Unspecified WDR7 +OMIM:613472 skos:exactMatch UMLS:C1540161 Unspecified ULK3 +OMIM:613472 skos:exactMatch HGNC_symbol:ULK3 Unspecified ULK3 +OMIM:613472 skos:exactMatch HGNC:19703 Unspecified ULK3 +OMIM:256840 skos:exactMatch UMLS:C1850395 Unspecified neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive +OMIM:613471 skos:exactMatch UMLS:C0748397 Unspecified reynolds syndrome +OMIM:613470 skos:exactMatch UMLS:C3150730 Unspecified hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency +OMIM:613470 skos:exactMatch ORPHA:712 Unspecified hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency +OMIM:601490 skos:exactMatch HGNC:7780 Unspecified NFE2 +OMIM:601490 skos:exactMatch HGNC_symbol:NFE2 Unspecified NFE2 +OMIM:601490 skos:exactMatch UMLS:C1417699 Unspecified NFE2 +OMIM:601491 skos:exactMatch HGNC_symbol:IPW Unspecified IPW +OMIM:601491 skos:exactMatch HGNC:6109 Unspecified IPW +OMIM:601491 skos:exactMatch UMLS:C1416470 Unspecified IPW +OMIM:601492 skos:exactMatch UMLS:C1291490 Unspecified mucopolysaccharidosis, iia 9 +OMIM:601493 skos:exactMatch UMLS:C1832244 Unspecified cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction +OMIM:601493 skos:exactMatch UMLS:C3152137 Unspecified cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction +OMIM:601493 skos:exactMatch ORPHA:154 Unspecified cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction +OMIM:601493 skos:exactMatch UMLS:C4225414 Unspecified cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction +OMIM:601493 skos:exactMatch ORPHA:54260 Unspecified cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction +OMIM:601494 skos:exactMatch UMLS:C1832243 Unspecified cardiomyopathy, dilated, 1d +OMIM:601495 skos:exactMatch UMLS:C3152144 Unspecified agammaglobulinemia 1, autosomal recessive +OMIM:601496 skos:exactMatch UMLS:C1415048 Unspecified GFRA1 +OMIM:601496 skos:exactMatch HGNC_symbol:GFRA1 Unspecified GFRA1 +OMIM:601496 skos:exactMatch HGNC:4243 Unspecified GFRA1 +OMIM:601475 skos:exactMatch HGNC_symbol:PWP2 Unspecified PWP2 +OMIM:601475 skos:exactMatch HGNC:9711 Unspecified PWP2 +OMIM:601475 skos:exactMatch UMLS:C1419145 Unspecified PWP2 +OMIM:601476 skos:exactMatch UMLS:C1537525 Unspecified LAPTM5 +OMIM:601476 skos:exactMatch HGNC:29612 Unspecified LAPTM5 +OMIM:601476 skos:exactMatch HGNC_symbol:LAPTM5 Unspecified LAPTM5 +OMIM:601477 skos:exactMatch UMLS:C1832273 Unspecified ribbing disease +OMIM:601478 skos:exactMatch UMLS:C1417558 Unspecified MYO1A +OMIM:601478 skos:exactMatch HGNC_symbol:MYO1A Unspecified MYO1A +OMIM:601478 skos:exactMatch HGNC:7595 Unspecified MYO1A +OMIM:601479 skos:exactMatch UMLS:C1417562 Unspecified MYO1E +OMIM:601479 skos:exactMatch HGNC_symbol:MYO1E Unspecified MYO1E +OMIM:601479 skos:exactMatch HGNC:7599 Unspecified MYO1E +OMIM:613459 skos:exactMatch UMLS:C3150709 Unspecified birth weight quantitative trait locus 2 +OMIM:613458 skos:exactMatch UMLS:C3150708 Unspecified chromosome 16p13.3 duplication syndrome +OMIM:613457 skos:exactMatch UMLS:C3150707 Unspecified chromosome 14q11-q22 deletion syndrome +OMIM:613456 skos:exactMatch UMLS:C3150706 Unspecified frontonasal dysplasia 3 +OMIM:613456 skos:exactMatch ORPHA:306542 Unspecified frontonasal dysplasia 3 +OMIM:613455 skos:exactMatch HGNC:24008 Unspecified MIA3 +OMIM:613455 skos:exactMatch UMLS:C1825987 Unspecified MIA3 +OMIM:613455 skos:exactMatch HGNC_symbol:MIA3 Unspecified MIA3 +OMIM:613454 skos:exactMatch UMLS:C3150705 Unspecified rett syndrome, congenital variant +OMIM:256850 skos:exactMatch UMLS:C1850386 Unspecified giant axonal neuropathy 1, autosomal recessive +OMIM:256850 skos:exactMatch ORPHA:643 Unspecified giant axonal neuropathy 1, autosomal recessive +OMIM:256850 skos:exactMatch UMLS:C5200933 Unspecified giant axonal neuropathy 1, autosomal recessive +OMIM:613464 skos:exactMatch UMLS:C3150715 Unspecified retinitis pigmentosa 51 +OMIM:613463 skos:exactMatch UMLS:C3150714 Unspecified fasting plasma glucose level quantitative trait locus 5 +OMIM:613462 skos:exactMatch UMLS:C3150713 Unspecified fasting plasma glucose level quantitative trait locus 4 +OMIM:613461 skos:exactMatch UMLS:C1537565 Unspecified LEPROT +OMIM:613461 skos:exactMatch HGNC:29477 Unspecified LEPROT +OMIM:613461 skos:exactMatch HGNC_symbol:LEPROT Unspecified LEPROT +OMIM:613460 skos:exactMatch UMLS:C3150710 Unspecified fasting plasma glucose level quantitative trait locus 6 +OMIM:613460 skos:exactMatch UMLS:C3150712 Unspecified fasting plasma glucose level quantitative trait locus 6 +OMIM:613460 skos:exactMatch UMLS:C3150711 Unspecified fasting plasma glucose level quantitative trait locus 6 +OMIM:601480 skos:exactMatch HGNC_symbol:MYO1F Unspecified MYO1F +OMIM:601480 skos:exactMatch HGNC:7600 Unspecified MYO1F +OMIM:601480 skos:exactMatch UMLS:C1417563 Unspecified MYO1F +OMIM:601481 skos:exactMatch HGNC_symbol:MYO10 Unspecified MYO10 +OMIM:601481 skos:exactMatch HGNC:7593 Unspecified MYO10 +OMIM:601481 skos:exactMatch UMLS:C1417556 Unspecified MYO10 +OMIM:601482 skos:exactMatch HGNC_symbol:DR1 Unspecified DR1 +OMIM:601482 skos:exactMatch UMLS:C1333247 Unspecified DR1 +OMIM:601482 skos:exactMatch HGNC:3017 Unspecified DR1 +OMIM:601483 skos:exactMatch UMLS:C1421584 Unspecified PEG3 +OMIM:601483 skos:exactMatch HGNC:8826 Unspecified PEG3 +OMIM:601483 skos:exactMatch HGNC_symbol:PEG3 Unspecified PEG3 +OMIM:601483 skos:exactMatch UMLS:C1418452 Unspecified PEG3 +OMIM:601484 skos:exactMatch HGNC:10751 Unspecified SELENOP +OMIM:601484 skos:exactMatch HGNC_symbol:SELENOP Unspecified SELENOP +OMIM:601484 skos:exactMatch UMLS:C1419968 Unspecified SELENOP +OMIM:601485 skos:exactMatch HGNC_symbol:STX1B Unspecified STX1B +OMIM:601485 skos:exactMatch HGNC:18539 Unspecified STX1B +OMIM:601485 skos:exactMatch UMLS:C1420499 Unspecified STX1B +OMIM:256855 skos:exactMatch UMLS:C1850385 Unspecified neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive +OMIM:183400 skos:exactMatch UMLS:C1866743 Unspecified split lower 51p +OMIM:146450 skos:exactMatch UMLS:C2675154 Unspecified hypospadias 3, autosomal +OMIM:303630 skos:exactMatch HGNC:2207 Unspecified COL4A5 +OMIM:303630 skos:exactMatch UMLS:C1413586 Unspecified COL4A5 +OMIM:303630 skos:exactMatch HGNC_symbol:COL4A5 Unspecified COL4A5 +OMIM:244850 skos:exactMatch UMLS:C1855644 Unspecified palmoplantar keratoderma, norrbotten recessive iia +OMIM:303631 skos:exactMatch UMLS:C1332775 Unspecified COL4A6 +OMIM:303631 skos:exactMatch HGNC:2208 Unspecified COL4A6 +OMIM:303631 skos:exactMatch HGNC_symbol:COL4A6 Unspecified COL4A6 +OMIM:268800 skos:exactMatch UMLS:C0036161 Unspecified sandhoff disease +OMIM:268800 skos:exactMatch UMLS:C1849321 Unspecified sandhoff disease +OMIM:268800 skos:exactMatch UMLS:C1849322 Unspecified sandhoff disease +OMIM:268800 skos:exactMatch UMLS:C1849320 Unspecified sandhoff disease +OMIM:229200 skos:exactMatch UMLS:C0268344 Unspecified brittle cornea syndrome 1 +OMIM:171400 skos:exactMatch UMLS:C1833921 Unspecified multiple endocrine neoplasia, iia 2a +OMIM:171400 skos:exactMatch UMLS:C0025268 Unspecified multiple endocrine neoplasia, iia 2a +OMIM:205250 skos:exactMatch UMLS:C1859805 Unspecified amyotrophic lateral sclerosis with polyglucosan bodies +OMIM:303600 skos:exactMatch UMLS:C0265252 Unspecified coffin-lowry syndrome +OMIM:229230 skos:exactMatch UMLS:C1856708 Unspecified fraser-like syndrome +OMIM:256800 skos:exactMatch UMLS:C0020074 Unspecified insensitivity to pain, congenital, with anhidrosis +OMIM:613499 skos:exactMatch HGNC:18729 Unspecified HIST1H2AA +OMIM:613499 skos:exactMatch UMLS:C1425743 Unspecified HIST1H2AA +OMIM:613499 skos:exactMatch HGNC_symbol:H2AC1 Unspecified HIST1H2AA +OMIM:613498 skos:exactMatch UMLS:C3150748 Unspecified sex hormone-binding globulin circulating level quantitative trait locus +OMIM:171420 skos:exactMatch UMLS:C1868392 Unspecified pheochromocytoma--islet cell tumor syndrome +OMIM:256810 skos:exactMatch UMLS:C1850407 Unspecified mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +OMIM:256810 skos:exactMatch UMLS:C1850406 Unspecified mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +OMIM:230200 skos:exactMatch ORPHA:79237 Unspecified galactosemia 2 +OMIM:230200 skos:exactMatch UMLS:C0268155 Unspecified galactosemia 2 +OMIM:230200 skos:exactMatch ORPHA:352 Unspecified galactosemia 2 +OMIM:158120 skos:exactMatch UMLS:C1367477 Unspecified CD14 +OMIM:158120 skos:exactMatch HGNC_symbol:CD14 Unspecified CD14 +OMIM:158120 skos:exactMatch HGNC:1628 Unspecified CD14 +OMIM:109195 skos:exactMatch HGNC_symbol:BPI Unspecified BPI +OMIM:109195 skos:exactMatch UMLS:C1443145 Unspecified BPI +OMIM:109195 skos:exactMatch HGNC:1095 Unspecified BPI +OMIM:109190 skos:exactMatch HGNC_symbol:SLC1A5 Unspecified SLC1A5 +OMIM:109190 skos:exactMatch UMLS:C1420123 Unspecified SLC1A5 +OMIM:109190 skos:exactMatch HGNC:10943 Unspecified SLC1A5 +OMIM:185750 skos:exactMatch ORPHA:3246 Unspecified symphalangism with multiple anomalies of hands and feet +OMIM:185750 skos:exactMatch UMLS:C1861391 Unspecified symphalangism with multiple anomalies of hands and feet +OMIM:207620 skos:exactMatch UMLS:C1859754 Unspecified aphalangy with hemivertebrae +OMIM:219600 skos:exactMatch UMLS:C1384901 Unspecified cystic disease of lung +OMIM:109170 skos:exactMatch HGNC:14189 Unspecified LST1 +OMIM:109170 skos:exactMatch HGNC_symbol:LST1 Unspecified LST1 +OMIM:109170 skos:exactMatch UMLS:C1422474 Unspecified LST1 +OMIM:146160 skos:exactMatch UMLS:C1840335 Unspecified hypomelia with mullerian duct anomalies +OMIM:220600 skos:exactMatch UMLS:C1857344 Unspecified split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive +OMIM:110150 skos:exactMatch UMLS:C1862259 Unspecified blepharoptosis, myopia, and ectopia lentis +OMIM:109180 skos:exactMatch UMLS:C1412786 Unspecified baboon m7 virus integration site +OMIM:171100 skos:exactMatch UMLS:C1868402 Unspecified phagocytosis, plasma-related defect 1n +OMIM:109150 skos:exactMatch UMLS:C0024408 Unspecified machado-joseph disease +OMIM:158170 skos:exactMatch ORPHA:261112 Unspecified chromosome 9p deletion syndrome +OMIM:158170 skos:exactMatch UMLS:C0795830 Unspecified chromosome 9p deletion syndrome +OMIM:109160 skos:exactMatch UMLS:C1862358 Unspecified azotemia, familial +OMIM:109130 skos:exactMatch UMLS:C1862372 Unspecified axial osteomalacia +OMIM:183100 skos:exactMatch UMLS:C1866746 Unspecified spinocerebellar atrophy with pupillary paralysis +OMIM:109135 skos:exactMatch UMLS:C0812237 Unspecified AXL +OMIM:109135 skos:exactMatch HGNC_symbol:AXL Unspecified AXL +OMIM:109135 skos:exactMatch HGNC:905 Unspecified AXL +OMIM:122100 skos:exactMatch ORPHA:98954 Unspecified corneal dystrophy, meesmann, 1 +OMIM:122100 skos:exactMatch UMLS:C5231499 Unspecified corneal dystrophy, meesmann, 1 +OMIM:122100 skos:exactMatch UMLS:C0339277 Unspecified corneal dystrophy, meesmann, 1 +OMIM:100790 skos:exactMatch HGNC:738 Unspecified ASCL1 +OMIM:100790 skos:exactMatch UMLS:C1332009 Unspecified ASCL1 +OMIM:100790 skos:exactMatch HGNC_symbol:ASCL1 Unspecified ASCL1 +OMIM:171150 skos:exactMatch HGNC:11453 Unspecified SULT1A1 +OMIM:171150 skos:exactMatch HGNC_symbol:SULT1A1 Unspecified SULT1A1 +OMIM:171150 skos:exactMatch UMLS:C1420514 Unspecified SULT1A1 +OMIM:207600 skos:exactMatch UMLS:C0039263 Unspecified takayasu arteritis +OMIM:109110 skos:exactMatch UMLS:C1862379 Unspecified autonomously replicating sequence 1 +OMIM:110100 skos:exactMatch ORPHA:126 Unspecified blepharophimosis, ptosis, and epicanthus inversus +OMIM:110100 skos:exactMatch ORPHA:572354 Unspecified blepharophimosis, ptosis, and epicanthus inversus +OMIM:110100 skos:exactMatch ORPHA:572361 Unspecified blepharophimosis, ptosis, and epicanthus inversus +OMIM:110100 skos:exactMatch UMLS:C0220663 Unspecified blepharophimosis, ptosis, and epicanthus inversus +OMIM:109120 skos:exactMatch UMLS:C1862373 Unspecified axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities +OMIM:171190 skos:exactMatch UMLS:C1418713 Unspecified PNMT +OMIM:171190 skos:exactMatch HGNC_symbol:PNMT Unspecified PNMT +OMIM:171190 skos:exactMatch HGNC:9160 Unspecified PNMT +OMIM:109100 skos:exactMatch UMLS:C0004364 Unspecified autoimmune disease +OMIM:601620 skos:exactMatch UMLS:C0265264 Unspecified TBX5 +OMIM:601620 skos:exactMatch HGNC:11604 Unspecified TBX5 +OMIM:601620 skos:exactMatch UMLS:C1420615 Unspecified TBX5 +OMIM:601620 skos:exactMatch HGNC_symbol:TBX5 Unspecified TBX5 +OMIM:613609 skos:exactMatch HGNC_symbol:HFE Unspecified HFE +OMIM:613609 skos:exactMatch UMLS:C4017321 Unspecified HFE +OMIM:613609 skos:exactMatch UMLS:C4017322 Unspecified HFE +OMIM:613609 skos:exactMatch UMLS:C1856170 Unspecified HFE +OMIM:613609 skos:exactMatch HGNC:4886 Unspecified HFE +OMIM:613609 skos:exactMatch UMLS:C3150862 Unspecified HFE +OMIM:613609 skos:exactMatch UMLS:C2673520 Unspecified HFE +OMIM:613609 skos:exactMatch UMLS:C2673518 Unspecified HFE +OMIM:613609 skos:exactMatch UMLS:C2673517 Unspecified HFE +OMIM:613609 skos:exactMatch UMLS:C1384665 Unspecified HFE +OMIM:613609 skos:exactMatch UMLS:C3280096 Unspecified HFE +OMIM:613609 skos:exactMatch UMLS:C3469186 Unspecified HFE +OMIM:601621 skos:exactMatch HGNC:11602 Unspecified TBX3 +OMIM:601621 skos:exactMatch UMLS:C1420613 Unspecified TBX3 +OMIM:601621 skos:exactMatch HGNC_symbol:TBX3 Unspecified TBX3 +OMIM:601621 skos:exactMatch UMLS:C1866994 Unspecified TBX3 +OMIM:613608 skos:exactMatch UMLS:C3150860 Unspecified epilepsy, familial adult myoclonic, 3 +OMIM:601622 skos:exactMatch HGNC:12428 Unspecified TWIST1 +OMIM:601622 skos:exactMatch UMLS:C1421244 Unspecified TWIST1 +OMIM:601622 skos:exactMatch HGNC_symbol:TWIST1 Unspecified TWIST1 +OMIM:601623 skos:exactMatch HGNC:12496 Unspecified UBE3A +OMIM:601623 skos:exactMatch UMLS:C0162635 Unspecified UBE3A +OMIM:601623 skos:exactMatch UMLS:C1421293 Unspecified UBE3A +OMIM:601623 skos:exactMatch HGNC_symbol:UBE3A Unspecified UBE3A +OMIM:613607 skos:exactMatch HGNC_symbol:THEMIS Unspecified THEMIS +OMIM:613607 skos:exactMatch HGNC:21569 Unspecified THEMIS +OMIM:613607 skos:exactMatch UMLS:C1427618 Unspecified THEMIS +OMIM:601624 skos:exactMatch HGNC_symbol:FCN2 Unspecified FCN2 +OMIM:601624 skos:exactMatch HGNC:3624 Unspecified FCN2 +OMIM:601624 skos:exactMatch UMLS:C1414560 Unspecified FCN2 +OMIM:613606 skos:exactMatch UMLS:C3150859 Unspecified forsythe-wakeling syndrome +OMIM:613605 skos:exactMatch HGNC_symbol:BBIP1 Unspecified BBIP1 +OMIM:613605 skos:exactMatch UMLS:C2681864 Unspecified BBIP1 +OMIM:613605 skos:exactMatch HGNC:28093 Unspecified BBIP1 +OMIM:601625 skos:exactMatch UMLS:C1412562 Unspecified ART1 +OMIM:601625 skos:exactMatch HGNC_symbol:ART1 Unspecified ART1 +OMIM:601625 skos:exactMatch HGNC:723 Unspecified ART1 +OMIM:601626 skos:exactMatch ORPHA:167714 Unspecified leukemia, acute myeloid +OMIM:601626 skos:exactMatch ORPHA:98277 Unspecified leukemia, acute myeloid +OMIM:601626 skos:exactMatch ORPHA:86846 Unspecified leukemia, acute myeloid +OMIM:601626 skos:exactMatch ORPHA:86845 Unspecified leukemia, acute myeloid +OMIM:601626 skos:exactMatch ORPHA:86851 Unspecified leukemia, acute myeloid +OMIM:601626 skos:exactMatch ORPHA:98835 Unspecified leukemia, acute myeloid +OMIM:601626 skos:exactMatch ORPHA:519 Unspecified leukemia, acute myeloid +OMIM:601626 skos:exactMatch ORPHA:530995 Unspecified leukemia, acute myeloid +OMIM:601626 skos:exactMatch UMLS:C0023467 Unspecified leukemia, acute myeloid +OMIM:601626 skos:exactMatch ORPHA:319480 Unspecified leukemia, acute myeloid +OMIM:601626 skos:exactMatch ORPHA:319465 Unspecified leukemia, acute myeloid +OMIM:613604 skos:exactMatch UMLS:C3150858 Unspecified chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb +OMIM:601627 skos:exactMatch HGNC_symbol:SMN2 Unspecified SMN2 +OMIM:601627 skos:exactMatch HGNC:11118 Unspecified SMN2 +OMIM:601627 skos:exactMatch UMLS:C1420258 Unspecified SMN2 +OMIM:613603 skos:exactMatch UMLS:C3150857 Unspecified chromosome 4q32.1-q32.2 triplication syndrome +OMIM:613602 skos:exactMatch UMLS:C4017319 Unspecified WDR35 +OMIM:613602 skos:exactMatch UMLS:C4694035 Unspecified WDR35 +OMIM:613602 skos:exactMatch HGNC_symbol:WDR35 Unspecified WDR35 +OMIM:613602 skos:exactMatch UMLS:C3150874 Unspecified WDR35 +OMIM:613602 skos:exactMatch HGNC:29250 Unspecified WDR35 +OMIM:613602 skos:exactMatch UMLS:C1428820 Unspecified WDR35 +OMIM:613602 skos:exactMatch UMLS:C4747658 Unspecified WDR35 +OMIM:601629 skos:exactMatch HGNC:8742 Unspecified PCP4 +OMIM:601629 skos:exactMatch HGNC_symbol:PCP4 Unspecified PCP4 +OMIM:601629 skos:exactMatch UMLS:C1418387 Unspecified PCP4 +OMIM:613601 skos:exactMatch UMLS:C3150852 Unspecified early repolarization associated with ventricular fibrillation +OMIM:613600 skos:exactMatch UMLS:C3150851 Unspecified torsade lange pointes, short-coupled variant +OMIM:124700 skos:exactMatch UMLS:C1852283 Unspecified deafness, mid-tone neural +OMIM:100730 skos:exactMatch HGNC_symbol:CHRNG Unspecified CHRNG +OMIM:100730 skos:exactMatch HGNC:1967 Unspecified CHRNG +OMIM:100730 skos:exactMatch UMLS:C1413413 Unspecified CHRNG +OMIM:601610 skos:exactMatch UMLS:C1412842 Unspecified BTN1A1 +OMIM:601610 skos:exactMatch HGNC:1135 Unspecified BTN1A1 +OMIM:601610 skos:exactMatch HGNC_symbol:BTN1A1 Unspecified BTN1A1 +OMIM:601611 skos:exactMatch HGNC_symbol:SLC14A2 Unspecified SLC14A2 +OMIM:601611 skos:exactMatch UMLS:C1420099 Unspecified SLC14A2 +OMIM:601611 skos:exactMatch HGNC:10919 Unspecified SLC14A2 +OMIM:601612 skos:exactMatch UMLS:C3275954 Unspecified lung agenesis, congenital heart defects, and thumb anomalies syndrome +OMIM:601613 skos:exactMatch UMLS:C1332421 Unspecified CXCR5 +OMIM:601613 skos:exactMatch HGNC_symbol:CXCR5 Unspecified CXCR5 +OMIM:601613 skos:exactMatch HGNC:1060 Unspecified CXCR5 +OMIM:601614 skos:exactMatch UMLS:C1334908 Unspecified NTN1 +OMIM:601614 skos:exactMatch HGNC:8029 Unspecified NTN1 +OMIM:601614 skos:exactMatch HGNC_symbol:NTN1 Unspecified NTN1 +OMIM:601615 skos:exactMatch UMLS:C1412062 Unspecified ABCA3 +OMIM:601615 skos:exactMatch HGNC_symbol:ABCA3 Unspecified ABCA3 +OMIM:601615 skos:exactMatch HGNC:33 Unspecified ABCA3 +OMIM:601616 skos:exactMatch UMLS:C1866608 Unspecified iris pigment epithelium anomalies +OMIM:601617 skos:exactMatch HGNC_symbol:RDH5 Unspecified RDH5 +OMIM:601617 skos:exactMatch HGNC:9940 Unspecified RDH5 +OMIM:601617 skos:exactMatch UMLS:C1419328 Unspecified RDH5 +OMIM:601618 skos:exactMatch HGNC_symbol:SOX18 Unspecified SOX18 +OMIM:601618 skos:exactMatch UMLS:C4317151 Unspecified SOX18 +OMIM:601618 skos:exactMatch HGNC:11194 Unspecified SOX18 +OMIM:601618 skos:exactMatch UMLS:C1843004 Unspecified SOX18 +OMIM:601618 skos:exactMatch UMLS:C1420321 Unspecified SOX18 +OMIM:601619 skos:exactMatch UMLS:C1335588 Unspecified RALGDS +OMIM:601619 skos:exactMatch HGNC:9842 Unspecified RALGDS +OMIM:601619 skos:exactMatch HGNC_symbol:RALGDS Unspecified RALGDS +OMIM:100740 skos:exactMatch HGNC_symbol:ACHE Unspecified ACHE +OMIM:100740 skos:exactMatch UMLS:C1412122 Unspecified ACHE +OMIM:100740 skos:exactMatch HGNC:108 Unspecified ACHE +OMIM:601600 skos:exactMatch HGNC_symbol:ETV5 Unspecified ETV5 +OMIM:601600 skos:exactMatch HGNC:3494 Unspecified ETV5 +OMIM:601600 skos:exactMatch UMLS:C1414477 Unspecified ETV5 +OMIM:601601 skos:exactMatch HGNC_symbol:TFAP2B Unspecified TFAP2B +OMIM:601601 skos:exactMatch HGNC:11743 Unspecified TFAP2B +OMIM:601601 skos:exactMatch UMLS:C1366502 Unspecified TFAP2B +OMIM:601602 skos:exactMatch HGNC_symbol:TFAP2C Unspecified TFAP2C +OMIM:601602 skos:exactMatch HGNC:11744 Unspecified TFAP2C +OMIM:601602 skos:exactMatch UMLS:C1336606 Unspecified TFAP2C +OMIM:601603 skos:exactMatch UMLS:C1334333 Unspecified LCP2 +OMIM:601603 skos:exactMatch HGNC:6529 Unspecified LCP2 +OMIM:601603 skos:exactMatch HGNC_symbol:LCP2 Unspecified LCP2 +OMIM:601604 skos:exactMatch HGNC_symbol:IL12RB1 Unspecified IL12RB1 +OMIM:601604 skos:exactMatch HGNC:5971 Unspecified IL12RB1 +OMIM:601604 skos:exactMatch UMLS:C1416383 Unspecified IL12RB1 +OMIM:601606 skos:exactMatch UMLS:C1275122 Unspecified trichoepithelioma, multiple familial, 1 +OMIM:601607 skos:exactMatch UMLS:C4048809 Unspecified SMARCB1 +OMIM:601607 skos:exactMatch HGNC:11103 Unspecified SMARCB1 +OMIM:601607 skos:exactMatch UMLS:C4016745 Unspecified SMARCB1 +OMIM:601607 skos:exactMatch UMLS:C0812273 Unspecified SMARCB1 +OMIM:601607 skos:exactMatch UMLS:C3553248 Unspecified SMARCB1 +OMIM:601607 skos:exactMatch UMLS:C1836327 Unspecified SMARCB1 +OMIM:601607 skos:exactMatch HGNC_symbol:SMARCB1 Unspecified SMARCB1 +OMIM:601607 skos:exactMatch UMLS:C2750405 Unspecified SMARCB1 +OMIM:601608 skos:exactMatch UMLS:C1866619 Unspecified spastic paraplegia and evans syndrome +OMIM:112700 skos:exactMatch UMLS:C1862140 Unspecified brachydactyly, iia a3 +OMIM:601609 skos:exactMatch HGNC_symbol:HADH Unspecified HADH +OMIM:601609 skos:exactMatch HGNC:4799 Unspecified HADH +OMIM:601609 skos:exactMatch UMLS:C1415458 Unspecified HADH +OMIM:100710 skos:exactMatch HGNC:1961 Unspecified CHRNB1 +OMIM:100710 skos:exactMatch UMLS:C1413407 Unspecified CHRNB1 +OMIM:100710 skos:exactMatch HGNC_symbol:CHRNB1 Unspecified CHRNB1 +OMIM:100725 skos:exactMatch HGNC_symbol:CHRNE Unspecified CHRNE +OMIM:100725 skos:exactMatch UMLS:C1413412 Unspecified CHRNE +OMIM:100725 skos:exactMatch HGNC:1966 Unspecified CHRNE +OMIM:100720 skos:exactMatch HGNC_symbol:CHRND Unspecified CHRND +OMIM:100720 skos:exactMatch HGNC:1965 Unspecified CHRND +OMIM:100720 skos:exactMatch UMLS:C1413411 Unspecified CHRND +OMIM:601541 skos:exactMatch UMLS:C1412821 Unspecified BRD3 +OMIM:601541 skos:exactMatch HGNC_symbol:BRD3 Unspecified BRD3 +OMIM:601541 skos:exactMatch HGNC:1104 Unspecified BRD3 +OMIM:601542 skos:exactMatch HGNC_symbol:PITX2 Unspecified PITX2 +OMIM:601542 skos:exactMatch HGNC:9005 Unspecified PITX2 +OMIM:601542 skos:exactMatch UMLS:C1418596 Unspecified PITX2 +OMIM:601543 skos:exactMatch UMLS:C1832187 Unspecified deafness, autosomal dominant 12 +OMIM:601543 skos:exactMatch ORPHA:90635 Unspecified deafness, autosomal dominant 12 +OMIM:601544 skos:exactMatch ORPHA:90635 Unspecified deafness, autosomal dominant 3a +OMIM:601544 skos:exactMatch UMLS:C2675750 Unspecified deafness, autosomal dominant 3a +OMIM:601545 skos:exactMatch HGNC:8574 Unspecified PAFAH1B1 +OMIM:601545 skos:exactMatch UMLS:C1418245 Unspecified PAFAH1B1 +OMIM:601545 skos:exactMatch HGNC_symbol:PAFAH1B1 Unspecified PAFAH1B1 +OMIM:601546 skos:exactMatch HGNC:9459 Unspecified PROX1 +OMIM:601546 skos:exactMatch UMLS:C1418951 Unspecified PROX1 +OMIM:601546 skos:exactMatch HGNC_symbol:PROX1 Unspecified PROX1 +OMIM:601547 skos:exactMatch UMLS:C1832175 Unspecified cataract 3, multiple types +OMIM:613529 skos:exactMatch HGNC_symbol:CEP152 Unspecified CEP152 +OMIM:613529 skos:exactMatch HGNC:29298 Unspecified CEP152 +OMIM:613529 skos:exactMatch UMLS:C1824719 Unspecified CEP152 +OMIM:601548 skos:exactMatch UMLS:C1414297 Unspecified EFEMP1 +OMIM:601548 skos:exactMatch HGNC_symbol:EFEMP1 Unspecified EFEMP1 +OMIM:601548 skos:exactMatch HGNC:3218 Unspecified EFEMP1 +OMIM:613528 skos:exactMatch HGNC_symbol:SYT9 Unspecified SYT9 +OMIM:613528 skos:exactMatch UMLS:C1426130 Unspecified SYT9 +OMIM:613528 skos:exactMatch HGNC:19265 Unspecified SYT9 +OMIM:601549 skos:exactMatch UMLS:C4012597 Unspecified alacrima, congenital, autosomal recessive +OMIM:613527 skos:exactMatch HGNC_symbol:DNAJC27 Unspecified DNAJC27 +OMIM:613527 skos:exactMatch HGNC:30290 Unspecified DNAJC27 +OMIM:613527 skos:exactMatch UMLS:C2239871 Unspecified DNAJC27 +OMIM:613526 skos:exactMatch HGNC:17199 Unspecified None +OMIM:613526 skos:exactMatch HGNC_symbol:PSORS1C2 Unspecified None +OMIM:613526 skos:exactMatch UMLS:C1424815 Unspecified None +OMIM:613525 skos:exactMatch HGNC:17202 Unspecified None +OMIM:613525 skos:exactMatch HGNC_symbol:PSORS1C1 Unspecified None +OMIM:613525 skos:exactMatch UMLS:C1424818 Unspecified None +OMIM:613524 skos:exactMatch HGNC_symbol:SDCCAG8 Unspecified SDCCAG8 +OMIM:613524 skos:exactMatch UMLS:C1419903 Unspecified SDCCAG8 +OMIM:613524 skos:exactMatch HGNC:10671 Unspecified SDCCAG8 +OMIM:613523 skos:exactMatch UMLS:C3150773 Unspecified chromosome 8p11 myeloproliferative syndrome +OMIM:112800 skos:exactMatch UMLS:C1862139 Unspecified brachydactyly, iia a4 +OMIM:613522 skos:exactMatch HGNC:1012 Unspecified OPN1SW +OMIM:613522 skos:exactMatch HGNC_symbol:OPN1SW Unspecified OPN1SW +OMIM:613522 skos:exactMatch UMLS:C1412770 Unspecified OPN1SW +OMIM:613521 skos:exactMatch HGNC_symbol:UROD Unspecified UROD +OMIM:613521 skos:exactMatch HGNC:12591 Unspecified UROD +OMIM:613521 skos:exactMatch UMLS:C1421374 Unspecified UROD +OMIM:613520 skos:exactMatch HGNC:21740 Unspecified FGD6 +OMIM:613520 skos:exactMatch UMLS:C1427731 Unspecified FGD6 +OMIM:613520 skos:exactMatch HGNC_symbol:FGD6 Unspecified FGD6 +OMIM:613530 skos:exactMatch UMLS:C3150786 Unspecified muscular dystrophy, limb-girdle, iia 1h +OMIM:601550 skos:exactMatch UMLS:C1832169 Unspecified blood group--swann system +OMIM:601551 skos:exactMatch UMLS:C1832168 Unspecified blood group--froese +OMIM:601530 skos:exactMatch HGNC_symbol:SQSTM1 Unspecified SQSTM1 +OMIM:601530 skos:exactMatch HGNC:11280 Unspecified SQSTM1 +OMIM:601530 skos:exactMatch UMLS:C1420393 Unspecified SQSTM1 +OMIM:601531 skos:exactMatch HGNC_symbol:LTB4R Unspecified LTB4R +OMIM:601531 skos:exactMatch UMLS:C1334350 Unspecified LTB4R +OMIM:601531 skos:exactMatch HGNC:6713 Unspecified LTB4R +OMIM:601532 skos:exactMatch HGNC_symbol:CASP6 Unspecified CASP6 +OMIM:601532 skos:exactMatch HGNC:1507 Unspecified CASP6 +OMIM:601532 skos:exactMatch UMLS:C1332665 Unspecified CASP6 +OMIM:601533 skos:exactMatch HGNC:198 Unspecified ADAM2 +OMIM:601533 skos:exactMatch UMLS:C1412189 Unspecified ADAM2 +OMIM:601533 skos:exactMatch HGNC_symbol:ADAM2 Unspecified ADAM2 +OMIM:601534 skos:exactMatch UMLS:C1416585 Unspecified KCNJ3 +OMIM:601534 skos:exactMatch HGNC_symbol:KCNJ3 Unspecified KCNJ3 +OMIM:601534 skos:exactMatch HGNC:6264 Unspecified KCNJ3 +OMIM:613519 skos:exactMatch UMLS:C3150764 Unspecified dermatitis, atopic, 9 +OMIM:601535 skos:exactMatch HGNC_symbol:EFNA5 Unspecified EFNA5 +OMIM:601535 skos:exactMatch UMLS:C1414304 Unspecified EFNA5 +OMIM:601535 skos:exactMatch HGNC:3225 Unspecified EFNA5 +OMIM:601536 skos:exactMatch UMLS:C1832216 Unspecified athabaskan brainstem dysgenesis syndrome +OMIM:601536 skos:exactMatch UMLS:C1832215 Unspecified athabaskan brainstem dysgenesis syndrome +OMIM:601536 skos:exactMatch ORPHA:69737 Unspecified athabaskan brainstem dysgenesis syndrome +OMIM:601536 skos:exactMatch ORPHA:69739 Unspecified athabaskan brainstem dysgenesis syndrome +OMIM:613518 skos:exactMatch UMLS:C3150763 Unspecified dermatitis, atopic, 8 +OMIM:613517 skos:exactMatch UMLS:C3150757 Unspecified microphthalmia, isolated 6 +OMIM:601537 skos:exactMatch UMLS:C1832214 Unspecified microcephaly, retinitis pigmentosa, and sutural cataract +OMIM:601538 skos:exactMatch UMLS:C1418947 Unspecified PROP1 +OMIM:601538 skos:exactMatch HGNC_symbol:PROP1 Unspecified PROP1 +OMIM:601538 skos:exactMatch UMLS:C0878683 Unspecified PROP1 +OMIM:601538 skos:exactMatch HGNC:9455 Unspecified PROP1 +OMIM:613516 skos:exactMatch HGNC_symbol:RUBCN Unspecified RUBCN +OMIM:613516 skos:exactMatch UMLS:C1537447 Unspecified RUBCN +OMIM:613516 skos:exactMatch UMLS:C3810326 Unspecified RUBCN +OMIM:613516 skos:exactMatch HGNC:28991 Unspecified RUBCN +OMIM:601539 skos:exactMatch UMLS:C0282527 Unspecified peroxisome biogenesis disorder 1b +OMIM:613515 skos:exactMatch HGNC_symbol:ATG14 Unspecified ATG14 +OMIM:613515 skos:exactMatch HGNC:19962 Unspecified ATG14 +OMIM:613515 skos:exactMatch UMLS:C3146639 Unspecified ATG14 +OMIM:613514 skos:exactMatch HGNC:15770 Unspecified ZP4 +OMIM:613514 skos:exactMatch UMLS:C1423719 Unspecified ZP4 +OMIM:613514 skos:exactMatch HGNC_symbol:ZP4 Unspecified ZP4 +OMIM:613513 skos:exactMatch HGNC:29093 Unspecified ZC3H11A +OMIM:613513 skos:exactMatch HGNC_symbol:ZC3H11A Unspecified ZC3H11A +OMIM:613513 skos:exactMatch UMLS:C1823922 Unspecified ZC3H11A +OMIM:613512 skos:exactMatch HGNC:33273 Unspecified ZBED6 +OMIM:613512 skos:exactMatch HGNC_symbol:ZBED6 Unspecified ZBED6 +OMIM:613512 skos:exactMatch UMLS:C3147017 Unspecified ZBED6 +OMIM:613511 skos:exactMatch UMLS:C1823112 Unspecified SPINK9 +OMIM:613511 skos:exactMatch HGNC_symbol:SPINK9 Unspecified SPINK9 +OMIM:613511 skos:exactMatch HGNC:32951 Unspecified SPINK9 +OMIM:613510 skos:exactMatch UMLS:C1824325 Unspecified LAMTOR1 +OMIM:613510 skos:exactMatch HGNC:26068 Unspecified LAMTOR1 +OMIM:613510 skos:exactMatch HGNC_symbol:LAMTOR1 Unspecified LAMTOR1 +OMIM:100820 skos:exactMatch UMLS:C1863416 Unspecified achoo syndrome +OMIM:601540 skos:exactMatch HGNC_symbol:BRD2 Unspecified BRD2 +OMIM:601540 skos:exactMatch HGNC:1103 Unspecified BRD2 +OMIM:601540 skos:exactMatch UMLS:C1366556 Unspecified BRD2 +OMIM:601520 skos:exactMatch HGNC:10615 Unspecified CCL17 +OMIM:601520 skos:exactMatch HGNC_symbol:CCL17 Unspecified CCL17 +OMIM:601520 skos:exactMatch UMLS:C1332680 Unspecified CCL17 +OMIM:601521 skos:exactMatch HGNC:3466 Unspecified ESM1 +OMIM:601521 skos:exactMatch UMLS:C1414460 Unspecified ESM1 +OMIM:601521 skos:exactMatch HGNC_symbol:ESM1 Unspecified ESM1 +OMIM:601522 skos:exactMatch HGNC_symbol:GRB7 Unspecified GRB7 +OMIM:601522 skos:exactMatch UMLS:C1333708 Unspecified GRB7 +OMIM:601522 skos:exactMatch HGNC:4567 Unspecified GRB7 +OMIM:601523 skos:exactMatch HGNC:4564 Unspecified GRB10 +OMIM:601523 skos:exactMatch UMLS:C1366512 Unspecified GRB10 +OMIM:601523 skos:exactMatch HGNC_symbol:GRB10 Unspecified GRB10 +OMIM:613509 skos:exactMatch ORPHA:238750 Unspecified chromosome 4q21 deletion syndrome +OMIM:613509 skos:exactMatch UMLS:C3150756 Unspecified chromosome 4q21 deletion syndrome +OMIM:601524 skos:exactMatch HGNC:4565 Unspecified GRB14 +OMIM:601524 skos:exactMatch HGNC_symbol:GRB14 Unspecified GRB14 +OMIM:601524 skos:exactMatch UMLS:C1333706 Unspecified GRB14 +OMIM:613508 skos:exactMatch UMLS:C3150755 Unspecified sodium serum level quantitative trait locus 1 +OMIM:613508 skos:exactMatch UMLS:C0020625 Unspecified sodium serum level quantitative trait locus 1 +OMIM:613507 skos:exactMatch UMLS:C3150754 Unspecified glycogen storage disease 15 +OMIM:601525 skos:exactMatch HGNC_symbol:CHI3L1 Unspecified CHI3L1 +OMIM:601525 skos:exactMatch HGNC:1932 Unspecified CHI3L1 +OMIM:601525 skos:exactMatch UMLS:C1413387 Unspecified CHI3L1 +OMIM:613506 skos:exactMatch UMLS:C3150753 Unspecified agammaglobulinemia 5, autosomal dominant +OMIM:601526 skos:exactMatch HGNC_symbol:CHI3L2 Unspecified CHI3L2 +OMIM:601526 skos:exactMatch UMLS:C1413388 Unspecified CHI3L2 +OMIM:601526 skos:exactMatch HGNC:1933 Unspecified CHI3L2 +OMIM:613505 skos:exactMatch HGNC_symbol:LRRC26 Unspecified LRRC26 +OMIM:613505 skos:exactMatch UMLS:C1537601 Unspecified LRRC26 +OMIM:613505 skos:exactMatch HGNC:31409 Unspecified LRRC26 +OMIM:601527 skos:exactMatch UMLS:C3150706 Unspecified ALX1 +OMIM:601527 skos:exactMatch HGNC:1494 Unspecified ALX1 +OMIM:601527 skos:exactMatch UMLS:C1413127 Unspecified ALX1 +OMIM:601527 skos:exactMatch HGNC_symbol:ALX1 Unspecified ALX1 +OMIM:601528 skos:exactMatch HGNC:12682 Unspecified VEGFC +OMIM:601528 skos:exactMatch HGNC_symbol:VEGFC Unspecified VEGFC +OMIM:601528 skos:exactMatch UMLS:C4747769 Unspecified VEGFC +OMIM:601528 skos:exactMatch UMLS:C1336933 Unspecified VEGFC +OMIM:613504 skos:exactMatch HGNC_symbol:ZFYVE21 Unspecified ZFYVE21 +OMIM:613504 skos:exactMatch UMLS:C1427117 Unspecified ZFYVE21 +OMIM:613504 skos:exactMatch HGNC:20760 Unspecified ZFYVE21 +OMIM:601529 skos:exactMatch UMLS:C1417829 Unspecified NR2C1 +OMIM:601529 skos:exactMatch HGNC_symbol:NR2C1 Unspecified NR2C1 +OMIM:601529 skos:exactMatch HGNC:7971 Unspecified NR2C1 +OMIM:613503 skos:exactMatch HGNC_symbol:HLA-DQA2 Unspecified HLA-DQA2 +OMIM:613503 skos:exactMatch HGNC:4943 Unspecified HLA-DQA2 +OMIM:613503 skos:exactMatch UMLS:C1415571 Unspecified HLA-DQA2 +OMIM:613502 skos:exactMatch UMLS:C3150752 Unspecified agammaglobulinemia 4, autosomal recessive +OMIM:613501 skos:exactMatch UMLS:C3150751 Unspecified agammaglobulinemia 3, autosomal recessive +OMIM:613500 skos:exactMatch UMLS:C3150750 Unspecified agammaglobulinemia 2, autosomal recessive +OMIM:613500 skos:exactMatch ORPHA:229717 Unspecified agammaglobulinemia 2, autosomal recessive +OMIM:613500 skos:exactMatch ORPHA:33110 Unspecified agammaglobulinemia 2, autosomal recessive +OMIM:601510 skos:exactMatch HGNC_symbol:SCAP Unspecified SCAP +OMIM:601510 skos:exactMatch UMLS:C1822619 Unspecified SCAP +OMIM:601510 skos:exactMatch HGNC:30634 Unspecified SCAP +OMIM:601511 skos:exactMatch UMLS:C1335875 Unspecified STAT5A +OMIM:601511 skos:exactMatch HGNC_symbol:STAT5A Unspecified STAT5A +OMIM:601511 skos:exactMatch HGNC:11366 Unspecified STAT5A +OMIM:601512 skos:exactMatch HGNC_symbol:STAT6 Unspecified STAT6 +OMIM:601512 skos:exactMatch UMLS:C1335877 Unspecified STAT6 +OMIM:601512 skos:exactMatch UMLS:C1832224 Unspecified STAT6 +OMIM:601512 skos:exactMatch HGNC:11368 Unspecified STAT6 +OMIM:601513 skos:exactMatch HGNC_symbol:FGF12 Unspecified FGF12 +OMIM:601513 skos:exactMatch HGNC:3668 Unspecified FGF12 +OMIM:601513 skos:exactMatch UMLS:C1414597 Unspecified FGF12 +OMIM:601513 skos:exactMatch UMLS:C4310685 Unspecified FGF12 +OMIM:601514 skos:exactMatch HGNC_symbol:FGF11 Unspecified FGF11 +OMIM:601514 skos:exactMatch HGNC:3667 Unspecified FGF11 +OMIM:601514 skos:exactMatch UMLS:C1414596 Unspecified FGF11 +OMIM:601515 skos:exactMatch HGNC_symbol:FGF14 Unspecified FGF14 +OMIM:601515 skos:exactMatch HGNC:3671 Unspecified FGF14 +OMIM:601515 skos:exactMatch UMLS:C1414599 Unspecified FGF14 +OMIM:601516 skos:exactMatch HGNC:12950 Unspecified SF1 +OMIM:601516 skos:exactMatch UMLS:C1421652 Unspecified SF1 +OMIM:601516 skos:exactMatch HGNC_symbol:SF1 Unspecified SF1 +OMIM:601517 skos:exactMatch UMLS:C1538299 Unspecified ATXN2 +OMIM:601517 skos:exactMatch HGNC:10555 Unspecified ATXN2 +OMIM:601517 skos:exactMatch HGNC_symbol:ATXN2 Unspecified ATXN2 +OMIM:601518 skos:exactMatch UMLS:C4722327 Unspecified prostate cancer, hereditary, 1 +OMIM:601519 skos:exactMatch HGNC_symbol:ATP5ME Unspecified ATP5ME +OMIM:601519 skos:exactMatch HGNC:846 Unspecified ATP5ME +OMIM:601519 skos:exactMatch UMLS:C1412667 Unspecified ATP5ME +OMIM:100800 skos:exactMatch UMLS:C0001080 Unspecified achondroplasia +OMIM:601585 skos:exactMatch HGNC_symbol:PTP4A1 Unspecified PTP4A1 +OMIM:601585 skos:exactMatch HGNC:9634 Unspecified PTP4A1 +OMIM:601585 skos:exactMatch UMLS:C1335279 Unspecified PTP4A1 +OMIM:601586 skos:exactMatch UMLS:C1419064 Unspecified PTGER4 +OMIM:601586 skos:exactMatch HGNC:9596 Unspecified PTGER4 +OMIM:601586 skos:exactMatch HGNC_symbol:PTGER4 Unspecified PTGER4 +OMIM:601589 skos:exactMatch UMLS:C1419278 Unspecified RASA2 +OMIM:601589 skos:exactMatch HGNC_symbol:RASA2 Unspecified RASA2 +OMIM:601589 skos:exactMatch HGNC:9872 Unspecified RASA2 +OMIM:613569 skos:exactMatch HGNC:14210 Unspecified SUN2 +OMIM:613569 skos:exactMatch HGNC_symbol:SUN2 Unspecified SUN2 +OMIM:613569 skos:exactMatch UMLS:C2828739 Unspecified SUN2 +OMIM:613568 skos:exactMatch UMLS:C1823960 Unspecified ZMYM4 +OMIM:613568 skos:exactMatch HGNC:13055 Unspecified ZMYM4 +OMIM:613568 skos:exactMatch HGNC_symbol:ZMYM4 Unspecified ZMYM4 +OMIM:613567 skos:exactMatch UMLS:C1823962 Unspecified ZMYM6 +OMIM:613567 skos:exactMatch HGNC:13050 Unspecified ZMYM6 +OMIM:613567 skos:exactMatch HGNC_symbol:ZMYM6 Unspecified ZMYM6 +OMIM:613566 skos:exactMatch UMLS:C3150805 Unspecified fetal hemoglobin quantitative trait locus 6 +OMIM:613565 skos:exactMatch HGNC:12500 Unspecified UBE4B +OMIM:613565 skos:exactMatch UMLS:C1421297 Unspecified UBE4B +OMIM:613565 skos:exactMatch HGNC_symbol:UBE4B Unspecified UBE4B +OMIM:613564 skos:exactMatch UMLS:C3150804 Unspecified chromosome 2p12-p11.2 deletion syndrome +OMIM:613574 skos:exactMatch HGNC_symbol:TTC39B Unspecified TTC39B +OMIM:613574 skos:exactMatch HGNC:23704 Unspecified TTC39B +OMIM:613574 skos:exactMatch UMLS:C1428206 Unspecified TTC39B +OMIM:613573 skos:exactMatch UMLS:C3150807 Unspecified ectodermal dysplasia-syndactyly syndrome 1 +OMIM:613572 skos:exactMatch HGNC:18510 Unspecified GPRC6A +OMIM:613572 skos:exactMatch HGNC_symbol:GPRC6A Unspecified GPRC6A +OMIM:613572 skos:exactMatch UMLS:C1425566 Unspecified GPRC6A +OMIM:613571 skos:exactMatch UMLS:C1860042 Unspecified disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency +OMIM:613570 skos:exactMatch UMLS:C1824109 Unspecified LDAH +OMIM:613570 skos:exactMatch HGNC_symbol:LDAH Unspecified LDAH +OMIM:613570 skos:exactMatch HGNC:26145 Unspecified LDAH +OMIM:256540 skos:exactMatch UMLS:C0268233 Unspecified galactosialidosis +OMIM:601590 skos:exactMatch HGNC:3503 Unspecified EVPL +OMIM:601590 skos:exactMatch UMLS:C1414482 Unspecified EVPL +OMIM:601590 skos:exactMatch HGNC_symbol:EVPL Unspecified EVPL +OMIM:601591 skos:exactMatch HGNC_symbol:PRKG2 Unspecified PRKG2 +OMIM:601591 skos:exactMatch UMLS:C1418930 Unspecified PRKG2 +OMIM:601591 skos:exactMatch HGNC:9416 Unspecified PRKG2 +OMIM:601592 skos:exactMatch HGNC:9863 Unspecified RAPSN +OMIM:601592 skos:exactMatch UMLS:C1419271 Unspecified RAPSN +OMIM:601592 skos:exactMatch HGNC_symbol:RAPSN Unspecified RAPSN +OMIM:601593 skos:exactMatch HGNC_symbol:BARD1 Unspecified BARD1 +OMIM:601593 skos:exactMatch HGNC:952 Unspecified BARD1 +OMIM:601593 skos:exactMatch UMLS:C3469522 Unspecified BARD1 +OMIM:601593 skos:exactMatch UMLS:C1332381 Unspecified BARD1 +OMIM:601594 skos:exactMatch UMLS:C1416528 Unspecified JARID2 +OMIM:601594 skos:exactMatch HGNC_symbol:JARID2 Unspecified JARID2 +OMIM:601594 skos:exactMatch HGNC:6196 Unspecified JARID2 +OMIM:601595 skos:exactMatch HGNC:6767 Unspecified SMAD1 +OMIM:601595 skos:exactMatch HGNC_symbol:SMAD1 Unspecified SMAD1 +OMIM:601595 skos:exactMatch UMLS:C2986382 Unspecified SMAD1 +OMIM:601595 skos:exactMatch UMLS:C1416962 Unspecified SMAD1 +OMIM:601574 skos:exactMatch UMLS:C2677451 Unspecified TAF15 +OMIM:601574 skos:exactMatch HGNC:11547 Unspecified TAF15 +OMIM:601574 skos:exactMatch HGNC_symbol:TAF15 Unspecified TAF15 +OMIM:601574 skos:exactMatch UMLS:C1420573 Unspecified TAF15 +OMIM:601575 skos:exactMatch UMLS:C0812302 Unspecified FOSL2 +OMIM:601575 skos:exactMatch HGNC:3798 Unspecified FOSL2 +OMIM:601575 skos:exactMatch HGNC_symbol:FOSL2 Unspecified FOSL2 +OMIM:601576 skos:exactMatch UMLS:C1419124 Unspecified PTPRS +OMIM:601576 skos:exactMatch HGNC_symbol:PTPRS Unspecified PTPRS +OMIM:601576 skos:exactMatch HGNC:9681 Unspecified PTPRS +OMIM:601577 skos:exactMatch UMLS:C1419113 Unspecified PTPRCAP +OMIM:601577 skos:exactMatch HGNC_symbol:PTPRCAP Unspecified PTPRCAP +OMIM:601577 skos:exactMatch HGNC:9667 Unspecified PTPRCAP +OMIM:601578 skos:exactMatch HGNC_symbol:CCNG1 Unspecified CCNG1 +OMIM:601578 skos:exactMatch HGNC:1592 Unspecified CCNG1 +OMIM:601578 skos:exactMatch UMLS:C1413179 Unspecified CCNG1 +OMIM:601579 skos:exactMatch HGNC_symbol:OAZ1 Unspecified OAZ1 +OMIM:601579 skos:exactMatch UMLS:C1417921 Unspecified OAZ1 +OMIM:601579 skos:exactMatch HGNC:8095 Unspecified OAZ1 +OMIM:613559 skos:exactMatch UMLS:C3150801 Unspecified combined oxidative phosphorylation deficiency 7 +OMIM:613558 skos:exactMatch UMLS:C3160736 Unspecified deafness, autosomal dominant 51 +OMIM:613556 skos:exactMatch HGNC:32915 Unspecified MIR659 +OMIM:613556 skos:exactMatch UMLS:C1826238 Unspecified MIR659 +OMIM:613556 skos:exactMatch HGNC_symbol:MIR659 Unspecified MIR659 +OMIM:613555 skos:exactMatch UMLS:C5394586 Unspecified TET3 +OMIM:613555 skos:exactMatch UMLS:C5394587 Unspecified TET3 +OMIM:613555 skos:exactMatch UMLS:C2680470 Unspecified TET3 +OMIM:613555 skos:exactMatch HGNC_symbol:TET3 Unspecified TET3 +OMIM:613555 skos:exactMatch HGNC:28313 Unspecified TET3 +OMIM:613554 skos:exactMatch UMLS:C1264040 Unspecified von willebrand disease, iia 2 +OMIM:613554 skos:exactMatch UMLS:C1282968 Unspecified von willebrand disease, iia 2 +OMIM:613554 skos:exactMatch UMLS:C1282974 Unspecified von willebrand disease, iia 2 +OMIM:613554 skos:exactMatch UMLS:C1282975 Unspecified von willebrand disease, iia 2 +OMIM:613554 skos:exactMatch UMLS:C1282971 Unspecified von willebrand disease, iia 2 +OMIM:613553 skos:exactMatch HGNC_symbol:XPNPEP3 Unspecified XPNPEP3 +OMIM:613553 skos:exactMatch HGNC:28052 Unspecified XPNPEP3 +OMIM:613553 skos:exactMatch UMLS:C1823877 Unspecified XPNPEP3 +OMIM:613563 skos:exactMatch UMLS:C3150803 Unspecified noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia +OMIM:613562 skos:exactMatch HGNC:31910 Unspecified FCRL6 +OMIM:613562 skos:exactMatch UMLS:C1539516 Unspecified FCRL6 +OMIM:613562 skos:exactMatch HGNC_symbol:FCRL6 Unspecified FCRL6 +OMIM:613561 skos:exactMatch UMLS:C3150802 Unspecified myopathy, lactic acidosis, and sideroblastic anemia 2 +OMIM:613560 skos:exactMatch HGNC:23373 Unspecified NTMT1 +OMIM:613560 skos:exactMatch UMLS:C1824291 Unspecified NTMT1 +OMIM:613560 skos:exactMatch HGNC_symbol:NTMT1 Unspecified NTMT1 +OMIM:256550 skos:exactMatch UMLS:C0268228 Unspecified neuraminidase deficiency +OMIM:256550 skos:exactMatch UMLS:C0268226 Unspecified neuraminidase deficiency +OMIM:256550 skos:exactMatch UMLS:C4282398 Unspecified neuraminidase deficiency +OMIM:601580 skos:exactMatch HGNC_symbol:CAPZA1 Unspecified CAPZA1 +OMIM:601580 skos:exactMatch HGNC:1488 Unspecified CAPZA1 +OMIM:601580 skos:exactMatch UMLS:C1413121 Unspecified CAPZA1 +OMIM:601581 skos:exactMatch HGNC:7994 Unspecified NRCAM +OMIM:601581 skos:exactMatch HGNC_symbol:NRCAM Unspecified NRCAM +OMIM:601581 skos:exactMatch UMLS:C1334901 Unspecified NRCAM +OMIM:601582 skos:exactMatch HGNC_symbol:INPP5D Unspecified INPP5D +OMIM:601582 skos:exactMatch UMLS:C1416447 Unspecified INPP5D +OMIM:601582 skos:exactMatch HGNC:6079 Unspecified INPP5D +OMIM:601583 skos:exactMatch ORPHA:654 Unspecified wilms tumor 5 +OMIM:601583 skos:exactMatch UMLS:C1832099 Unspecified wilms tumor 5 +OMIM:601584 skos:exactMatch UMLS:C1419089 Unspecified PTP4A2 +OMIM:601584 skos:exactMatch HGNC_symbol:PTP4A2 Unspecified PTP4A2 +OMIM:601584 skos:exactMatch HGNC:9635 Unspecified PTP4A2 +OMIM:601564 skos:exactMatch UMLS:C1418970 Unspecified PRSS2 +OMIM:601564 skos:exactMatch HGNC_symbol:PRSS2 Unspecified PRSS2 +OMIM:601564 skos:exactMatch HGNC:9483 Unspecified PRSS2 +OMIM:601565 skos:exactMatch HGNC:5358 Unspecified IRF8 +OMIM:601565 skos:exactMatch HGNC_symbol:IRF8 Unspecified IRF8 +OMIM:601565 skos:exactMatch UMLS:C1537422 Unspecified IRF8 +OMIM:601566 skos:exactMatch UMLS:C1334129 Unspecified ING1 +OMIM:601566 skos:exactMatch HGNC:6062 Unspecified ING1 +OMIM:601566 skos:exactMatch HGNC_symbol:ING1 Unspecified ING1 +OMIM:601567 skos:exactMatch HGNC:6631 Unspecified LMAN1 +OMIM:601567 skos:exactMatch HGNC_symbol:LMAN1 Unspecified LMAN1 +OMIM:601567 skos:exactMatch UMLS:C1416874 Unspecified LMAN1 +OMIM:601568 skos:exactMatch HGNC_symbol:ADD3 Unspecified ADD3 +OMIM:601568 skos:exactMatch UMLS:C1412232 Unspecified ADD3 +OMIM:601568 skos:exactMatch UMLS:C1832871 Unspecified ADD3 +OMIM:601568 skos:exactMatch HGNC:245 Unspecified ADD3 +OMIM:601569 skos:exactMatch HGNC_symbol:UBE2G1 Unspecified UBE2G1 +OMIM:601569 skos:exactMatch HGNC:12482 Unspecified UBE2G1 +OMIM:601569 skos:exactMatch UMLS:C1421280 Unspecified UBE2G1 +OMIM:613549 skos:exactMatch UMLS:C3150795 Unspecified stature quantitative trait locus 24 +OMIM:613548 skos:exactMatch UMLS:C3150794 Unspecified stature quantitative trait locus 23 +OMIM:613547 skos:exactMatch UMLS:C3150793 Unspecified stature quantitative trait locus 22 +OMIM:613546 skos:exactMatch UMLS:C1960539 Unspecified aromatase deficiency +OMIM:613545 skos:exactMatch UMLS:C3150792 Unspecified macrostomia, isolated +OMIM:613544 skos:exactMatch UMLS:C3150790 Unspecified chromosome 6q11-q14 deletion syndrome +OMIM:613544 skos:exactMatch UMLS:C3150791 Unspecified chromosome 6q11-q14 deletion syndrome +OMIM:613543 skos:exactMatch HGNC_symbol:SLCO5A1 Unspecified SLCO5A1 +OMIM:613543 skos:exactMatch UMLS:C1425976 Unspecified SLCO5A1 +OMIM:613543 skos:exactMatch HGNC:19046 Unspecified SLCO5A1 +OMIM:613542 skos:exactMatch HGNC_symbol:MTRF1L Unspecified MTRF1L +OMIM:613542 skos:exactMatch HGNC:21051 Unspecified MTRF1L +OMIM:613542 skos:exactMatch UMLS:C1427273 Unspecified MTRF1L +OMIM:256520 skos:exactMatch UMLS:C0265218 Unspecified neu-laxova syndrome 1 +OMIM:256520 skos:exactMatch UMLS:C4551478 Unspecified neu-laxova syndrome 1 +OMIM:613552 skos:exactMatch UMLS:C2678557 Unspecified GSAP +OMIM:613552 skos:exactMatch HGNC_symbol:GSAP Unspecified GSAP +OMIM:613552 skos:exactMatch HGNC:28042 Unspecified GSAP +OMIM:613551 skos:exactMatch UMLS:C3150797 Unspecified autoimmune disease, susceptibility to, 6 +OMIM:613550 skos:exactMatch ORPHA:84081 Unspecified nephronophthisis 11 +OMIM:613550 skos:exactMatch UMLS:C3150796 Unspecified nephronophthisis 11 +OMIM:601570 skos:exactMatch HGNC_symbol:WNT7A Unspecified WNT7A +OMIM:601570 skos:exactMatch HGNC:12786 Unspecified WNT7A +OMIM:601570 skos:exactMatch UMLS:C1337005 Unspecified WNT7A +OMIM:601571 skos:exactMatch HGNC_symbol:CAPZA2 Unspecified CAPZA2 +OMIM:601571 skos:exactMatch HGNC:1490 Unspecified CAPZA2 +OMIM:601571 skos:exactMatch UMLS:C1413123 Unspecified CAPZA2 +OMIM:601572 skos:exactMatch HGNC_symbol:CAPZB Unspecified CAPZB +OMIM:601572 skos:exactMatch HGNC:1491 Unspecified CAPZB +OMIM:601572 skos:exactMatch UMLS:C1413124 Unspecified CAPZB +OMIM:601573 skos:exactMatch UMLS:C1333368 Unspecified EZH2 +OMIM:601573 skos:exactMatch HGNC_symbol:EZH2 Unspecified EZH2 +OMIM:601573 skos:exactMatch HGNC:3527 Unspecified EZH2 +OMIM:601552 skos:exactMatch UMLS:C1832167 Unspecified facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs +OMIM:601553 skos:exactMatch UMLS:C1832162 Unspecified hypotrichosis, congenital, with juvenile macular dystrophy +OMIM:268500 skos:exactMatch UMLS:C0268426 Unspecified rowley-rosenberg syndrome +OMIM:601554 skos:exactMatch HGNC_symbol:DYNLT1 Unspecified DYNLT1 +OMIM:601554 skos:exactMatch HGNC:11697 Unspecified DYNLT1 +OMIM:601554 skos:exactMatch UMLS:C1825018 Unspecified DYNLT1 +OMIM:601555 skos:exactMatch HGNC_symbol:RND2 Unspecified RND2 +OMIM:601555 skos:exactMatch UMLS:C1538856 Unspecified RND2 +OMIM:601555 skos:exactMatch HGNC:18315 Unspecified RND2 +OMIM:601556 skos:exactMatch HGNC_symbol:ATXN1 Unspecified ATXN1 +OMIM:601556 skos:exactMatch UMLS:C1538298 Unspecified ATXN1 +OMIM:601556 skos:exactMatch HGNC:10548 Unspecified ATXN1 +OMIM:601557 skos:exactMatch HGNC:85 Unspecified ACACB +OMIM:601557 skos:exactMatch UMLS:C1412105 Unspecified ACACB +OMIM:601557 skos:exactMatch HGNC_symbol:ACACB Unspecified ACACB +OMIM:601558 skos:exactMatch UMLS:C1426009 Unspecified RBPMS +OMIM:601558 skos:exactMatch HGNC_symbol:RBPMS Unspecified RBPMS +OMIM:601558 skos:exactMatch HGNC:19097 Unspecified RBPMS +OMIM:613539 skos:exactMatch HGNC:3649 Unspecified FEM1B +OMIM:613539 skos:exactMatch UMLS:C1414582 Unspecified FEM1B +OMIM:613539 skos:exactMatch HGNC_symbol:FEM1B Unspecified FEM1B +OMIM:601559 skos:exactMatch UMLS:C0796176 Unspecified stuve-wiedemann syndrome 1 +OMIM:613538 skos:exactMatch HGNC:16934 Unspecified FEM1A +OMIM:613538 skos:exactMatch HGNC_symbol:FEM1A Unspecified FEM1A +OMIM:613538 skos:exactMatch UMLS:C1424647 Unspecified FEM1A +OMIM:613537 skos:exactMatch HGNC_symbol:NLRC5 Unspecified NLRC5 +OMIM:613537 skos:exactMatch HGNC:29933 Unspecified NLRC5 +OMIM:613537 skos:exactMatch UMLS:C1826434 Unspecified NLRC5 +OMIM:613536 skos:exactMatch HGNC_symbol:LEKR1 Unspecified LEKR1 +OMIM:613536 skos:exactMatch HGNC:33765 Unspecified LEKR1 +OMIM:613536 skos:exactMatch UMLS:C2239647 Unspecified LEKR1 +OMIM:613535 skos:exactMatch HGNC:30071 Unspecified KIAA0319L +OMIM:613535 skos:exactMatch HGNC_symbol:KIAA0319L Unspecified KIAA0319L +OMIM:613535 skos:exactMatch UMLS:C1537448 Unspecified KIAA0319L +OMIM:613534 skos:exactMatch UMLS:C3147283 Unspecified FAN1 +OMIM:613534 skos:exactMatch HGNC_symbol:FAN1 Unspecified FAN1 +OMIM:613534 skos:exactMatch HGNC:29170 Unspecified FAN1 +OMIM:613533 skos:exactMatch UMLS:C3150787 Unspecified chromosome 17q21.31 duplication syndrome +OMIM:613532 skos:exactMatch HGNC_symbol:RAB8B Unspecified RAB8B +OMIM:613532 skos:exactMatch UMLS:C1428953 Unspecified RAB8B +OMIM:613532 skos:exactMatch HGNC:30273 Unspecified RAB8B +OMIM:613531 skos:exactMatch HGNC:9589 Unspecified PTENP1 +OMIM:613531 skos:exactMatch UMLS:C1419057 Unspecified PTENP1 +OMIM:613531 skos:exactMatch HGNC_symbol:PTENP1 Unspecified PTENP1 +OMIM:613541 skos:exactMatch HGNC:26784 Unspecified MTRFR +OMIM:613541 skos:exactMatch UMLS:C3539506 Unspecified MTRFR +OMIM:613541 skos:exactMatch UMLS:C2240303 Unspecified MTRFR +OMIM:613541 skos:exactMatch HGNC_symbol:MTRFR Unspecified MTRFR +OMIM:613541 skos:exactMatch UMLS:C3150801 Unspecified MTRFR +OMIM:613540 skos:exactMatch UMLS:C1426895 Unspecified SPTSSA +OMIM:613540 skos:exactMatch HGNC:20361 Unspecified SPTSSA +OMIM:613540 skos:exactMatch HGNC_symbol:SPTSSA Unspecified SPTSSA +OMIM:148700 skos:exactMatch UMLS:C2931122 Unspecified palmoplantar keratoderma i, striate, focal, or diffuse +OMIM:601560 skos:exactMatch UMLS:C1832112 Unspecified multiple epiphyseal dysplasia with robin phenotype +OMIM:601561 skos:exactMatch UMLS:C1832111 Unspecified dyssegmental dysplasia with glaucoma +OMIM:601562 skos:exactMatch HGNC_symbol:DYNLL1 Unspecified DYNLL1 +OMIM:601562 skos:exactMatch UMLS:C1825012 Unspecified DYNLL1 +OMIM:601562 skos:exactMatch HGNC:15476 Unspecified DYNLL1 +OMIM:256500 skos:exactMatch UMLS:C0265962 Unspecified netherton syndrome +OMIM:613599 skos:exactMatch UMLS:C2675204 Unspecified ABHD12 +OMIM:613599 skos:exactMatch HGNC_symbol:ABHD12 Unspecified ABHD12 +OMIM:613599 skos:exactMatch UMLS:C1825822 Unspecified ABHD12 +OMIM:613599 skos:exactMatch HGNC:15868 Unspecified ABHD12 +OMIM:613598 skos:exactMatch HGNC_symbol:ZNF513 Unspecified ZNF513 +OMIM:613598 skos:exactMatch UMLS:C1428598 Unspecified ZNF513 +OMIM:613598 skos:exactMatch HGNC:26498 Unspecified ZNF513 +OMIM:613597 skos:exactMatch UMLS:C1538394 Unspecified HOGA1 +OMIM:613597 skos:exactMatch HGNC:25155 Unspecified HOGA1 +OMIM:613597 skos:exactMatch HGNC_symbol:HOGA1 Unspecified HOGA1 +OMIM:613589 skos:exactMatch UMLS:C3150834 Unspecified low density lipoprotein cholesterol level quantitative trait locus 6 +OMIM:613588 skos:exactMatch HGNC:2052 Unspecified CLEC3A +OMIM:613588 skos:exactMatch HGNC_symbol:CLEC3A Unspecified CLEC3A +OMIM:613588 skos:exactMatch UMLS:C1539091 Unspecified CLEC3A +OMIM:613587 skos:exactMatch UMLS:C3150833 Unspecified occult macular dystrophy +OMIM:613587 skos:exactMatch ORPHA:247834 Unspecified occult macular dystrophy +OMIM:613586 skos:exactMatch UMLS:C1826444 Unspecified NOB1 +OMIM:613586 skos:exactMatch HGNC_symbol:NOB1 Unspecified NOB1 +OMIM:613586 skos:exactMatch HGNC:29540 Unspecified NOB1 +OMIM:613596 skos:exactMatch UMLS:C2681489 Unspecified FAM161A +OMIM:613596 skos:exactMatch HGNC_symbol:FAM161A Unspecified FAM161A +OMIM:613596 skos:exactMatch UMLS:C1419614 Unspecified FAM161A +OMIM:613596 skos:exactMatch HGNC:25808 Unspecified FAM161A +OMIM:613595 skos:exactMatch HGNC:1140 Unspecified BTN3A3 +OMIM:613595 skos:exactMatch HGNC_symbol:BTN3A3 Unspecified BTN3A3 +OMIM:613595 skos:exactMatch UMLS:C1412847 Unspecified BTN3A3 +OMIM:613594 skos:exactMatch HGNC:1139 Unspecified BTN3A2 +OMIM:613594 skos:exactMatch HGNC_symbol:BTN3A2 Unspecified BTN3A2 +OMIM:613594 skos:exactMatch UMLS:C1412846 Unspecified BTN3A2 +OMIM:613593 skos:exactMatch HGNC:1138 Unspecified BTN3A1 +OMIM:613593 skos:exactMatch HGNC_symbol:BTN3A1 Unspecified BTN3A1 +OMIM:613593 skos:exactMatch UMLS:C1412845 Unspecified BTN3A1 +OMIM:613592 skos:exactMatch UMLS:C1421890 Unspecified BTN2A3 +OMIM:613592 skos:exactMatch HGNC_symbol:BTN2A3P Unspecified BTN2A3 +OMIM:613592 skos:exactMatch HGNC:13229 Unspecified BTN2A3 +OMIM:613591 skos:exactMatch HGNC:1137 Unspecified BTN2A2 +OMIM:613591 skos:exactMatch HGNC_symbol:BTN2A2 Unspecified BTN2A2 +OMIM:613591 skos:exactMatch UMLS:C1412844 Unspecified BTN2A2 +OMIM:613590 skos:exactMatch HGNC:1136 Unspecified BTN2A1 +OMIM:613590 skos:exactMatch HGNC_symbol:BTN2A1 Unspecified BTN2A1 +OMIM:613590 skos:exactMatch UMLS:C1412843 Unspecified BTN2A1 +OMIM:148730 skos:exactMatch UMLS:C1835650 Unspecified keratosis, focal palmoplantar and gingival +OMIM:601596 skos:exactMatch ORPHA:99949 Unspecified charcot-marie-tooth disease, iia 4c +OMIM:601596 skos:exactMatch UMLS:C1866636 Unspecified charcot-marie-tooth disease, iia 4c +OMIM:601597 skos:exactMatch HGNC_symbol:BTG2 Unspecified BTG2 +OMIM:601597 skos:exactMatch UMLS:C2986382 Unspecified BTG2 +OMIM:601597 skos:exactMatch HGNC:1131 Unspecified BTG2 +OMIM:601597 skos:exactMatch UMLS:C1366526 Unspecified BTG2 +OMIM:244510 skos:exactMatch UMLS:C1855647 Unspecified keratoconus and congenital hip dysplasia +OMIM:601598 skos:exactMatch UMLS:C1419114 Unspecified PTPRD +OMIM:601598 skos:exactMatch HGNC_symbol:PTPRD Unspecified PTPRD +OMIM:601598 skos:exactMatch HGNC:9668 Unspecified PTPRD +OMIM:601599 skos:exactMatch HGNC_symbol:SSPN Unspecified SSPN +OMIM:601599 skos:exactMatch HGNC:11322 Unspecified SSPN +OMIM:601599 skos:exactMatch UMLS:C1335865 Unspecified SSPN +OMIM:136760 skos:exactMatch UMLS:C1876203 Unspecified frontonasal dysplasia 1 +OMIM:136760 skos:exactMatch ORPHA:391474 Unspecified frontonasal dysplasia 1 +OMIM:613579 skos:exactMatch HGNC:14556 Unspecified CLEC6A +OMIM:613579 skos:exactMatch UMLS:C1539101 Unspecified CLEC6A +OMIM:613579 skos:exactMatch HGNC_symbol:CLEC6A Unspecified CLEC6A +OMIM:613578 skos:exactMatch UMLS:C1418972 Unspecified PRSS3 +OMIM:613578 skos:exactMatch HGNC_symbol:PRSS3 Unspecified PRSS3 +OMIM:613578 skos:exactMatch HGNC:9486 Unspecified PRSS3 +OMIM:613577 skos:exactMatch UMLS:C2829265 Unspecified TBC1D24 +OMIM:613577 skos:exactMatch UMLS:C3892048 Unspecified TBC1D24 +OMIM:613577 skos:exactMatch UMLS:C0795934 Unspecified TBC1D24 +OMIM:613577 skos:exactMatch UMLS:C0917800 Unspecified TBC1D24 +OMIM:613577 skos:exactMatch UMLS:C3809173 Unspecified TBC1D24 +OMIM:613577 skos:exactMatch UMLS:C1842531 Unspecified TBC1D24 +OMIM:613577 skos:exactMatch HGNC:29203 Unspecified TBC1D24 +OMIM:613577 skos:exactMatch UMLS:C1823245 Unspecified TBC1D24 +OMIM:613577 skos:exactMatch HGNC_symbol:TBC1D24 Unspecified TBC1D24 +OMIM:613576 skos:exactMatch UMLS:C3150809 Unspecified ectodermal dysplasia-syndactyly syndrome 2 +OMIM:613575 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa 55 +OMIM:613575 skos:exactMatch UMLS:C3150808 Unspecified retinitis pigmentosa 55 +OMIM:613585 skos:exactMatch UMLS:C1823412 Unspecified TMEM147 +OMIM:613585 skos:exactMatch HGNC_symbol:TMEM147 Unspecified TMEM147 +OMIM:613585 skos:exactMatch HGNC:30414 Unspecified TMEM147 +OMIM:613584 skos:exactMatch UMLS:C1538260 Unspecified ALDH1L2 +OMIM:613584 skos:exactMatch HGNC_symbol:ALDH1L2 Unspecified ALDH1L2 +OMIM:613584 skos:exactMatch HGNC:26777 Unspecified ALDH1L2 +OMIM:613583 skos:exactMatch HGNC:24502 Unspecified WDR62 +OMIM:613583 skos:exactMatch HGNC_symbol:WDR62 Unspecified WDR62 +OMIM:613583 skos:exactMatch UMLS:C3501830 Unspecified WDR62 +OMIM:613583 skos:exactMatch UMLS:C1823826 Unspecified WDR62 +OMIM:613583 skos:exactMatch UMLS:C4017318 Unspecified WDR62 +OMIM:613583 skos:exactMatch UMLS:C1858535 Unspecified WDR62 +OMIM:613582 skos:exactMatch UMLS:C3150821 Unspecified retinitis pigmentosa 57 +OMIM:613581 skos:exactMatch UMLS:C3150819 Unspecified retinitis pigmentosa 56 +OMIM:613580 skos:exactMatch UMLS:C3150127 Unspecified WDPCP +OMIM:613580 skos:exactMatch HGNC:28027 Unspecified WDPCP +OMIM:613580 skos:exactMatch UMLS:C2681211 Unspecified WDPCP +OMIM:613580 skos:exactMatch UMLS:C4017315 Unspecified WDPCP +OMIM:613580 skos:exactMatch UMLS:C4017316 Unspecified WDPCP +OMIM:613580 skos:exactMatch UMLS:C1857587 Unspecified WDPCP +OMIM:613580 skos:exactMatch HGNC_symbol:WDPCP Unspecified WDPCP +OMIM:161700 skos:exactMatch UMLS:C1834340 Unspecified necrotizing encephalomyelopathy, subacute, of leigh, adult +OMIM:185700 skos:exactMatch UMLS:C1861401 Unspecified symphalangism, distal +OMIM:148750 skos:exactMatch UMLS:C1414898 Unspecified G7P1 +OMIM:220500 skos:exactMatch UMLS:C0795934 Unspecified deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome +OMIM:148760 skos:exactMatch HGNC_symbol:KIF11 Unspecified KIF11 +OMIM:148760 skos:exactMatch HGNC:6388 Unspecified KIF11 +OMIM:148760 skos:exactMatch UMLS:C1416693 Unspecified KIF11 +OMIM:173700 skos:exactMatch UMLS:C0343094 Unspecified poikiloderma, hereditary sclerosing +OMIM:158100 skos:exactMatch UMLS:C1834753 Unspecified monophalangy of great toe +OMIM:158105 skos:exactMatch HGNC_symbol:CCL2 Unspecified CCL2 +OMIM:158105 skos:exactMatch UMLS:C1834750 Unspecified CCL2 +OMIM:158105 skos:exactMatch UMLS:C1834751 Unspecified CCL2 +OMIM:158105 skos:exactMatch HGNC:10618 Unspecified CCL2 +OMIM:158105 skos:exactMatch UMLS:C1337092 Unspecified CCL2 +OMIM:158106 skos:exactMatch HGNC_symbol:CCL7 Unspecified CCL7 +OMIM:158106 skos:exactMatch UMLS:C1332692 Unspecified CCL7 +OMIM:158106 skos:exactMatch HGNC:10634 Unspecified CCL7 +OMIM:146110 skos:exactMatch UMLS:C0342384 Unspecified hypogonadotropic hypogonadism 7 with or without anosmia +OMIM:219550 skos:exactMatch UMLS:C1857438 Unspecified cysteine peptiduria +OMIM:232500 skos:exactMatch UMLS:C0017923 Unspecified glycogen storage disease 4 +OMIM:232500 skos:exactMatch UMLS:C1856306 Unspecified glycogen storage disease 4 +OMIM:232500 skos:exactMatch UMLS:C1856303 Unspecified glycogen storage disease 4 +OMIM:232500 skos:exactMatch UMLS:C1856302 Unspecified glycogen storage disease 4 +OMIM:232500 skos:exactMatch UMLS:C1856305 Unspecified glycogen storage disease 4 +OMIM:232500 skos:exactMatch UMLS:C1856304 Unspecified glycogen storage disease 4 +OMIM:232500 skos:exactMatch UMLS:C1856301 Unspecified glycogen storage disease 4 +OMIM:185861 skos:exactMatch HGNC_symbol:SV2B Unspecified SV2B +OMIM:185861 skos:exactMatch HGNC:16874 Unspecified SV2B +OMIM:185861 skos:exactMatch UMLS:C1424609 Unspecified SV2B +OMIM:185860 skos:exactMatch HGNC_symbol:SV2A Unspecified SV2A +OMIM:185860 skos:exactMatch UMLS:C1427005 Unspecified SV2A +OMIM:185860 skos:exactMatch HGNC:20566 Unspecified SV2A +OMIM:207731 skos:exactMatch UMLS:C1859753 Unspecified aplasia cutis congenita with intestinal lymphangiectasia +OMIM:207740 skos:exactMatch UMLS:C1859752 Unspecified aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy +OMIM:173870 skos:exactMatch UMLS:C1538577 Unspecified PARP1 +OMIM:173870 skos:exactMatch HGNC:270 Unspecified PARP1 +OMIM:173870 skos:exactMatch HGNC_symbol:PARP1 Unspecified PARP1 +OMIM:146255 skos:exactMatch ORPHA:2237 Unspecified hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome +OMIM:146255 skos:exactMatch UMLS:C1840333 Unspecified hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome +OMIM:158250 skos:exactMatch UMLS:C1834741 Unspecified nondisjunction +OMIM:219730 skos:exactMatch UMLS:C1857423 Unspecified ventriculomegaly with cystic kidney disease +OMIM:207750 skos:exactMatch UMLS:C1720779 Unspecified apolipoprotein c-ii deficiency +OMIM:171200 skos:exactMatch UMLS:C1868401 Unspecified thiourea tasting +OMIM:171200 skos:exactMatch UMLS:C1868400 Unspecified thiourea tasting +OMIM:171200 skos:exactMatch UMLS:C1868398 Unspecified thiourea tasting +OMIM:171200 skos:exactMatch UMLS:C1868399 Unspecified thiourea tasting +OMIM:171200 skos:exactMatch UMLS:C1868397 Unspecified thiourea tasting +OMIM:219721 skos:exactMatch UMLS:C3806255 Unspecified cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation +OMIM:205100 skos:exactMatch UMLS:C1859807 Unspecified amyotrophic lateral sclerosis 2, juvenile +OMIM:205100 skos:exactMatch ORPHA:300605 Unspecified amyotrophic lateral sclerosis 2, juvenile +OMIM:158270 skos:exactMatch UMLS:C1417190 Unspecified MLN +OMIM:158270 skos:exactMatch HGNC:7141 Unspecified MLN +OMIM:158270 skos:exactMatch HGNC_symbol:MLN Unspecified MLN +OMIM:219750 skos:exactMatch UMLS:C2931013 Unspecified cystinosis, adult nonnephropathic +OMIM:173880 skos:exactMatch HGNC:8968 Unspecified PIGR +OMIM:173880 skos:exactMatch UMLS:C1418569 Unspecified PIGR +OMIM:173880 skos:exactMatch HGNC_symbol:PIGR Unspecified PIGR +OMIM:207770 skos:exactMatch UMLS:C0795952 Unspecified aprosencephaly syndrome +OMIM:232700 skos:exactMatch ORPHA:369 Unspecified glycogen storage disease 6 +OMIM:232700 skos:exactMatch UMLS:C0017925 Unspecified glycogen storage disease 6 +OMIM:109270 skos:exactMatch UMLS:C3892933 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4225456 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C5436235 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4225646 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4225645 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4225644 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C1420193 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015899 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015897 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015896 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015895 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015894 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015893 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015892 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015891 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015890 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015889 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015904 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015903 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015902 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015901 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C4015900 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C1969039 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch HGNC_symbol:SLC4A1 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C1704380 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C1969379 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C1862190 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C1862191 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C1832168 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch UMLS:C1862322 Unspecified SLC4A1 +OMIM:109270 skos:exactMatch HGNC:11027 Unspecified SLC4A1 +OMIM:110250 skos:exactMatch UMLS:C1862258 Unspecified blood group--abo suppressor +OMIM:109280 skos:exactMatch UMLS:C1420194 Unspecified SLC4A2 +OMIM:109280 skos:exactMatch HGNC_symbol:SLC4A2 Unspecified SLC4A2 +OMIM:109280 skos:exactMatch HGNC:11028 Unspecified SLC4A2 +OMIM:158280 skos:exactMatch UMLS:C0026603 Unspecified motion sickness +OMIM:185881 skos:exactMatch UMLS:C5231518 Unspecified VAMP2 +OMIM:185881 skos:exactMatch UMLS:C5231519 Unspecified VAMP2 +OMIM:185881 skos:exactMatch HGNC_symbol:VAMP2 Unspecified VAMP2 +OMIM:185881 skos:exactMatch HGNC:12643 Unspecified VAMP2 +OMIM:185881 skos:exactMatch UMLS:C1421419 Unspecified VAMP2 +OMIM:185880 skos:exactMatch HGNC:12642 Unspecified VAMP1 +OMIM:185880 skos:exactMatch HGNC_symbol:VAMP1 Unspecified VAMP1 +OMIM:185880 skos:exactMatch UMLS:C1421418 Unspecified VAMP1 +OMIM:207720 skos:exactMatch UMLS:C0520680 Unspecified apnea, central sleep +OMIM:219700 skos:exactMatch UMLS:C0010674 Unspecified cystic fibrosis +OMIM:219700 skos:exactMatch ORPHA:586 Unspecified cystic fibrosis +OMIM:601700 skos:exactMatch UMLS:C1866428 Unspecified sebaceous gland hyperplasia, familial presenile +OMIM:601701 skos:exactMatch UMLS:C1866427 Unspecified arthrogryposis and ectodermal dysplasia +OMIM:601702 skos:exactMatch UMLS:C1335631 Unspecified ROCK1 +OMIM:601702 skos:exactMatch HGNC_symbol:ROCK1 Unspecified ROCK1 +OMIM:601702 skos:exactMatch HGNC:10251 Unspecified ROCK1 +OMIM:601703 skos:exactMatch HGNC:12652 Unspecified VASP +OMIM:601703 skos:exactMatch HGNC_symbol:VASP Unspecified VASP +OMIM:601703 skos:exactMatch UMLS:C1421428 Unspecified VASP +OMIM:601704 skos:exactMatch HGNC:7098 Unspecified CXCL9 +OMIM:601704 skos:exactMatch UMLS:C1332821 Unspecified CXCL9 +OMIM:601704 skos:exactMatch HGNC_symbol:CXCL9 Unspecified CXCL9 +OMIM:601705 skos:exactMatch ORPHA:169095 Unspecified t-cell immunodeficiency, congenital alopecia, and nail dystrophy +OMIM:601705 skos:exactMatch UMLS:C1866426 Unspecified t-cell immunodeficiency, congenital alopecia, and nail dystrophy +OMIM:601706 skos:exactMatch UMLS:C1866425 Unspecified yemenite deaf-blind hypopigmentation syndrome +OMIM:601707 skos:exactMatch ORPHA:1553 Unspecified curry-jones syndrome +OMIM:601707 skos:exactMatch UMLS:C0795915 Unspecified curry-jones syndrome +OMIM:601708 skos:exactMatch UMLS:C1866424 Unspecified superior transverse scapular ligament, calcification of, familial +OMIM:601709 skos:exactMatch UMLS:C1866423 Unspecified quebec platelet disorder +OMIM:122200 skos:exactMatch UMLS:C1690006 Unspecified corneal dystrophy, lattice iia 1 +OMIM:122200 skos:exactMatch ORPHA:98964 Unspecified corneal dystrophy, lattice iia 1 +OMIM:100880 skos:exactMatch HGNC:117 Unspecified ACO1 +OMIM:100880 skos:exactMatch UMLS:C1412126 Unspecified ACO1 +OMIM:100880 skos:exactMatch HGNC_symbol:ACO1 Unspecified ACO1 +OMIM:601740 skos:exactMatch UMLS:C1417106 Unspecified MEIS2 +OMIM:601740 skos:exactMatch HGNC:7001 Unspecified MEIS2 +OMIM:601740 skos:exactMatch HGNC_symbol:MEIS2 Unspecified MEIS2 +OMIM:601741 skos:exactMatch HGNC_symbol:CUL5 Unspecified CUL5 +OMIM:601741 skos:exactMatch UMLS:C1332813 Unspecified CUL5 +OMIM:601741 skos:exactMatch HGNC:2556 Unspecified CUL5 +OMIM:601742 skos:exactMatch HGNC:16384 Unspecified TRIM28 +OMIM:601742 skos:exactMatch HGNC_symbol:TRIM28 Unspecified TRIM28 +OMIM:601742 skos:exactMatch UMLS:C1424235 Unspecified TRIM28 +OMIM:601743 skos:exactMatch HGNC_symbol:OSMR Unspecified OSMR +OMIM:601743 skos:exactMatch UMLS:C1335092 Unspecified OSMR +OMIM:601743 skos:exactMatch HGNC:8507 Unspecified OSMR +OMIM:613729 skos:exactMatch UMLS:C3150999 Unspecified chromosome 7q11.23 deletion syndrome, distal, 1.2-mb +OMIM:613728 skos:exactMatch UMLS:C3150998 Unspecified spinocerebellar ataxia, autosomal recessive 10 +OMIM:601744 skos:exactMatch UMLS:C1866373 Unspecified systemic lupus erythematosus, susceptibility to, 1 +OMIM:601744 skos:exactMatch UMLS:C1864265 Unspecified systemic lupus erythematosus, susceptibility to, 1 +OMIM:601745 skos:exactMatch HGNC:6272 Unspecified KCNK1 +OMIM:601745 skos:exactMatch UMLS:C1416591 Unspecified KCNK1 +OMIM:601745 skos:exactMatch HGNC_symbol:KCNK1 Unspecified KCNK1 +OMIM:613727 skos:exactMatch UMLS:C2829594 Unspecified KBTBD13 +OMIM:613727 skos:exactMatch HGNC:37227 Unspecified KBTBD13 +OMIM:613727 skos:exactMatch HGNC_symbol:KBTBD13 Unspecified KBTBD13 +OMIM:613726 skos:exactMatch HGNC:25519 Unspecified ANO10 +OMIM:613726 skos:exactMatch HGNC_symbol:ANO10 Unspecified ANO10 +OMIM:613726 skos:exactMatch UMLS:C1823307 Unspecified ANO10 +OMIM:601746 skos:exactMatch HGNC_symbol:HYOU1 Unspecified HYOU1 +OMIM:601746 skos:exactMatch UMLS:C1333935 Unspecified HYOU1 +OMIM:601746 skos:exactMatch HGNC:16931 Unspecified HYOU1 +OMIM:613725 skos:exactMatch HGNC_symbol:SLC25A27 Unspecified SLC25A27 +OMIM:613725 skos:exactMatch HGNC:21065 Unspecified SLC25A27 +OMIM:613725 skos:exactMatch UMLS:C1427286 Unspecified SLC25A27 +OMIM:601747 skos:exactMatch UMLS:C1540057 Unspecified TRIM23 +OMIM:601747 skos:exactMatch HGNC:660 Unspecified TRIM23 +OMIM:601747 skos:exactMatch HGNC_symbol:TRIM23 Unspecified TRIM23 +OMIM:601748 skos:exactMatch HGNC_symbol:GTF2H2 Unspecified GTF2H2 +OMIM:601748 skos:exactMatch HGNC:4656 Unspecified GTF2H2 +OMIM:601748 skos:exactMatch UMLS:C1415344 Unspecified GTF2H2 +OMIM:613724 skos:exactMatch UMLS:C3150990 Unspecified leukoencephalopathy with dystonia and motor neuropathy +OMIM:613723 skos:exactMatch UMLS:C3150989 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 17 +OMIM:601749 skos:exactMatch HGNC:14373 Unspecified GLMN +OMIM:601749 skos:exactMatch UMLS:C1333678 Unspecified GLMN +OMIM:601749 skos:exactMatch HGNC_symbol:GLMN Unspecified GLMN +OMIM:613722 skos:exactMatch ORPHA:3451 Unspecified developmental and epileptic encephalopathy 12 +OMIM:613722 skos:exactMatch ORPHA:293181 Unspecified developmental and epileptic encephalopathy 12 +OMIM:613722 skos:exactMatch UMLS:C3150988 Unspecified developmental and epileptic encephalopathy 12 +OMIM:613721 skos:exactMatch ORPHA:1934 Unspecified developmental and epileptic encephalopathy 11 +OMIM:613721 skos:exactMatch UMLS:C3150987 Unspecified developmental and epileptic encephalopathy 11 +OMIM:613720 skos:exactMatch UMLS:C3150986 Unspecified developmental and epileptic encephalopathy 7 +OMIM:613720 skos:exactMatch ORPHA:439218 Unspecified developmental and epileptic encephalopathy 7 +OMIM:254090 skos:exactMatch UMLS:C0410179 Unspecified ullrich congenital muscular dystrophy 1 +OMIM:100850 skos:exactMatch HGNC_symbol:ACO2 Unspecified ACO2 +OMIM:100850 skos:exactMatch UMLS:C1412127 Unspecified ACO2 +OMIM:100850 skos:exactMatch UMLS:C4225384 Unspecified ACO2 +OMIM:100850 skos:exactMatch UMLS:C3281192 Unspecified ACO2 +OMIM:100850 skos:exactMatch HGNC:118 Unspecified ACO2 +OMIM:601730 skos:exactMatch HGNC:8960 Unspecified PIGC +OMIM:601730 skos:exactMatch HGNC_symbol:PIGC Unspecified PIGC +OMIM:601730 skos:exactMatch UMLS:C1418561 Unspecified PIGC +OMIM:613719 skos:exactMatch HGNC:27375 Unspecified MSRB3 +OMIM:613719 skos:exactMatch UMLS:C2239351 Unspecified MSRB3 +OMIM:613719 skos:exactMatch HGNC_symbol:MSRB3 Unspecified MSRB3 +OMIM:613719 skos:exactMatch UMLS:C1537982 Unspecified MSRB3 +OMIM:601731 skos:exactMatch UMLS:C1412625 Unspecified ATIC +OMIM:601731 skos:exactMatch HGNC_symbol:ATIC Unspecified ATIC +OMIM:601731 skos:exactMatch UMLS:C4225570 Unspecified ATIC +OMIM:601731 skos:exactMatch HGNC:794 Unspecified ATIC +OMIM:601732 skos:exactMatch UMLS:C1335845 Unspecified SMARCC1 +OMIM:601732 skos:exactMatch HGNC:11104 Unspecified SMARCC1 +OMIM:601732 skos:exactMatch HGNC_symbol:SMARCC1 Unspecified SMARCC1 +OMIM:613718 skos:exactMatch UMLS:C2239351 Unspecified deafness, autosomal recessive 74 +OMIM:601733 skos:exactMatch HGNC:7063 Unspecified MGST2 +OMIM:601733 skos:exactMatch HGNC_symbol:MGST2 Unspecified MGST2 +OMIM:601733 skos:exactMatch UMLS:C1417146 Unspecified MGST2 +OMIM:613717 skos:exactMatch UMLS:C3150983 Unspecified treacher collins syndrome 2 +OMIM:109200 skos:exactMatch UMLS:C4083212 Unspecified alopecia, androgenetic, 1 +OMIM:109200 skos:exactMatch UMLS:C4049090 Unspecified alopecia, androgenetic, 1 +OMIM:109200 skos:exactMatch UMLS:C0162311 Unspecified alopecia, androgenetic, 1 +OMIM:601734 skos:exactMatch UMLS:C1335846 Unspecified SMARCC2 +OMIM:601734 skos:exactMatch HGNC:11105 Unspecified SMARCC2 +OMIM:601734 skos:exactMatch HGNC_symbol:SMARCC2 Unspecified SMARCC2 +OMIM:613716 skos:exactMatch HGNC:32917 Unspecified MIR661 +OMIM:613716 skos:exactMatch UMLS:C1826240 Unspecified MIR661 +OMIM:613716 skos:exactMatch HGNC_symbol:MIR661 Unspecified MIR661 +OMIM:613715 skos:exactMatch UMLS:C1426930 Unspecified POLR1D +OMIM:613715 skos:exactMatch HGNC_symbol:POLR1D Unspecified POLR1D +OMIM:613715 skos:exactMatch HGNC:20422 Unspecified POLR1D +OMIM:601735 skos:exactMatch UMLS:C1335847 Unspecified SMARCD1 +OMIM:601735 skos:exactMatch HGNC:11106 Unspecified SMARCD1 +OMIM:601735 skos:exactMatch UMLS:C5241442 Unspecified SMARCD1 +OMIM:601735 skos:exactMatch HGNC_symbol:SMARCD1 Unspecified SMARCD1 +OMIM:601736 skos:exactMatch UMLS:C1335848 Unspecified SMARCD2 +OMIM:601736 skos:exactMatch HGNC:11107 Unspecified SMARCD2 +OMIM:601736 skos:exactMatch HGNC_symbol:SMARCD2 Unspecified SMARCD2 +OMIM:613714 skos:exactMatch HGNC:42400 Unspecified None +OMIM:613714 skos:exactMatch HGNC_symbol:NCR3LG1 Unspecified None +OMIM:613714 skos:exactMatch UMLS:C3150976 Unspecified None +OMIM:601737 skos:exactMatch UMLS:C1335849 Unspecified SMARCD3 +OMIM:601737 skos:exactMatch HGNC:11108 Unspecified SMARCD3 +OMIM:601737 skos:exactMatch HGNC_symbol:SMARCD3 Unspecified SMARCD3 +OMIM:613713 skos:exactMatch HGNC_symbol:PCID2 Unspecified PCID2 +OMIM:613713 skos:exactMatch HGNC:25653 Unspecified PCID2 +OMIM:613713 skos:exactMatch UMLS:C1826548 Unspecified PCID2 +OMIM:601738 skos:exactMatch UMLS:C1333366 Unspecified EXTL1 +OMIM:601738 skos:exactMatch HGNC:3515 Unspecified EXTL1 +OMIM:601738 skos:exactMatch HGNC_symbol:EXTL1 Unspecified EXTL1 +OMIM:613712 skos:exactMatch UMLS:C3150975 Unspecified hirschsprung disease, susceptibility to, 4 +OMIM:601739 skos:exactMatch HGNC:7000 Unspecified MEIS1 +OMIM:601739 skos:exactMatch HGNC_symbol:MEIS1 Unspecified MEIS1 +OMIM:601739 skos:exactMatch UMLS:C1334501 Unspecified MEIS1 +OMIM:613711 skos:exactMatch UMLS:C3150974 Unspecified hirschsprung disease, susceptibility to, 3 +OMIM:613710 skos:exactMatch UMLS:C3150973 Unspecified thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) +OMIM:613709 skos:exactMatch HGNC_symbol:EIF2D Unspecified EIF2D +OMIM:613709 skos:exactMatch HGNC:6583 Unspecified EIF2D +OMIM:613709 skos:exactMatch UMLS:C3147162 Unspecified EIF2D +OMIM:601720 skos:exactMatch HGNC_symbol:KIN Unspecified KIN +OMIM:601720 skos:exactMatch HGNC:6327 Unspecified KIN +OMIM:601720 skos:exactMatch UMLS:C1416642 Unspecified KIN +OMIM:613708 skos:exactMatch UMLS:C3150972 Unspecified neuropathy, hereditary sensory, iia 1d +OMIM:601721 skos:exactMatch UMLS:C1332415 Unspecified BIRC3 +OMIM:601721 skos:exactMatch UMLS:C3148863 Unspecified BIRC3 +OMIM:601721 skos:exactMatch HGNC_symbol:BIRC3 Unspecified BIRC3 +OMIM:601721 skos:exactMatch HGNC:591 Unspecified BIRC3 +OMIM:613707 skos:exactMatch UMLS:C3150971 Unspecified leopard syndrome 3 +OMIM:613706 skos:exactMatch UMLS:C3150970 Unspecified noonan syndrome 7 +OMIM:613705 skos:exactMatch UMLS:C1866070 Unspecified orofacial cleft 10 +OMIM:601723 skos:exactMatch UMLS:C1414888 Unspecified FZD5 +OMIM:601723 skos:exactMatch HGNC_symbol:FZD5 Unspecified FZD5 +OMIM:601723 skos:exactMatch HGNC:4043 Unspecified FZD5 +OMIM:601724 skos:exactMatch HGNC:7762 Unspecified NEUROD1 +OMIM:601724 skos:exactMatch UMLS:C1417683 Unspecified NEUROD1 +OMIM:601724 skos:exactMatch HGNC_symbol:NEUROD1 Unspecified NEUROD1 +OMIM:613704 skos:exactMatch UMLS:C3150969 Unspecified microphthalmia, isolated 7 +OMIM:601725 skos:exactMatch HGNC:7763 Unspecified NEUROD2 +OMIM:601725 skos:exactMatch UMLS:C5193063 Unspecified NEUROD2 +OMIM:601725 skos:exactMatch UMLS:C1417684 Unspecified NEUROD2 +OMIM:601725 skos:exactMatch HGNC_symbol:NEUROD2 Unspecified NEUROD2 +OMIM:613703 skos:exactMatch UMLS:C3150968 Unspecified microphthalmia, isolated, with coloboma 6 +OMIM:601726 skos:exactMatch HGNC:7764 Unspecified NEUROG1 +OMIM:601726 skos:exactMatch UMLS:C1417685 Unspecified NEUROG1 +OMIM:601726 skos:exactMatch HGNC_symbol:NEUROG1 Unspecified NEUROG1 +OMIM:613702 skos:exactMatch UMLS:C3150967 Unspecified klippel-feil syndrome 3, autosomal dominant +OMIM:613701 skos:exactMatch HGNC:31770 Unspecified MIR328 +OMIM:613701 skos:exactMatch HGNC_symbol:MIR328 Unspecified MIR328 +OMIM:613701 skos:exactMatch UMLS:C1537876 Unspecified MIR328 +OMIM:601728 skos:exactMatch UMLS:C2751642 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C0018553 Unspecified PTEN +OMIM:601728 skos:exactMatch HGNC:9588 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C0694888 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C0476089 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C4016283 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C0391826 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C4016742 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C0025286 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C4015779 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C4015968 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C1854416 Unspecified PTEN +OMIM:601728 skos:exactMatch UMLS:C1866398 Unspecified PTEN +OMIM:601728 skos:exactMatch HGNC_symbol:PTEN Unspecified PTEN +OMIM:613700 skos:exactMatch UMLS:C3150966 Unspecified supernumerary der(22)t(8 +OMIM:601729 skos:exactMatch UMLS:C1420680 Unspecified TEAD2 +OMIM:601729 skos:exactMatch HGNC_symbol:TEAD2 Unspecified TEAD2 +OMIM:601729 skos:exactMatch HGNC:11715 Unspecified TEAD2 +OMIM:601710 skos:exactMatch UMLS:C1414359 Unspecified EIF5 +OMIM:601710 skos:exactMatch HGNC:3299 Unspecified EIF5 +OMIM:601710 skos:exactMatch HGNC_symbol:EIF5 Unspecified EIF5 +OMIM:601711 skos:exactMatch HGNC:12031 Unspecified TRAF1 +OMIM:601711 skos:exactMatch HGNC_symbol:TRAF1 Unspecified TRAF1 +OMIM:601711 skos:exactMatch UMLS:C1420887 Unspecified TRAF1 +OMIM:601712 skos:exactMatch UMLS:C1332414 Unspecified BIRC2 +OMIM:601712 skos:exactMatch HGNC_symbol:BIRC2 Unspecified BIRC2 +OMIM:601712 skos:exactMatch HGNC:590 Unspecified BIRC2 +OMIM:601713 skos:exactMatch UMLS:C1439342 Unspecified GMFB +OMIM:601713 skos:exactMatch HGNC:4373 Unspecified GMFB +OMIM:601713 skos:exactMatch HGNC_symbol:GMFB Unspecified GMFB +OMIM:601714 skos:exactMatch HGNC_symbol:TEAD4 Unspecified TEAD4 +OMIM:601714 skos:exactMatch HGNC:11717 Unspecified TEAD4 +OMIM:601714 skos:exactMatch UMLS:C1420682 Unspecified TEAD4 +OMIM:601716 skos:exactMatch UMLS:C1823131 Unspecified STAU1 +OMIM:601716 skos:exactMatch HGNC_symbol:STAU1 Unspecified STAU1 +OMIM:601716 skos:exactMatch HGNC:11370 Unspecified STAU1 +OMIM:601717 skos:exactMatch UMLS:C1420507 Unspecified STXBP2 +OMIM:601717 skos:exactMatch HGNC_symbol:STXBP2 Unspecified STXBP2 +OMIM:601717 skos:exactMatch HGNC:11445 Unspecified STXBP2 +OMIM:601718 skos:exactMatch UMLS:C1866422 Unspecified retinitis pigmentosa 19 +OMIM:601719 skos:exactMatch UMLS:C1840061 Unspecified TBX4 +OMIM:601719 skos:exactMatch UMLS:C1420614 Unspecified TBX4 +OMIM:601719 skos:exactMatch UMLS:C2986382 Unspecified TBX4 +OMIM:601719 skos:exactMatch HGNC_symbol:TBX4 Unspecified TBX4 +OMIM:601719 skos:exactMatch UMLS:C1832432 Unspecified TBX4 +OMIM:601719 skos:exactMatch UMLS:C5231525 Unspecified TBX4 +OMIM:601719 skos:exactMatch HGNC:11603 Unspecified TBX4 +OMIM:601662 skos:exactMatch HGNC:400 Unspecified ALCAM +OMIM:601662 skos:exactMatch UMLS:C1332075 Unspecified ALCAM +OMIM:601662 skos:exactMatch HGNC_symbol:ALCAM Unspecified ALCAM +OMIM:601663 skos:exactMatch UMLS:C2986382 Unspecified ESR2 +OMIM:601663 skos:exactMatch UMLS:C4748626 Unspecified ESR2 +OMIM:601663 skos:exactMatch UMLS:C1414462 Unspecified ESR2 +OMIM:601663 skos:exactMatch HGNC_symbol:ESR2 Unspecified ESR2 +OMIM:601663 skos:exactMatch HGNC:3468 Unspecified ESR2 +OMIM:601664 skos:exactMatch HGNC_symbol:SNRNP200 Unspecified SNRNP200 +OMIM:601664 skos:exactMatch UMLS:C1835895 Unspecified SNRNP200 +OMIM:601664 skos:exactMatch HGNC:30859 Unspecified SNRNP200 +OMIM:601664 skos:exactMatch UMLS:C1540207 Unspecified SNRNP200 +OMIM:601665 skos:exactMatch UMLS:C0028754 Unspecified obesity +OMIM:601665 skos:exactMatch UMLS:C0039870 Unspecified obesity +OMIM:601666 skos:exactMatch UMLS:C1866519 Unspecified iia 1 diabetes mellitus 15 +OMIM:601667 skos:exactMatch HGNC_symbol:ANGPT1 Unspecified ANGPT1 +OMIM:601667 skos:exactMatch HGNC:484 Unspecified ANGPT1 +OMIM:601667 skos:exactMatch UMLS:C1332088 Unspecified ANGPT1 +OMIM:601668 skos:exactMatch UMLS:C1866507 Unspecified spondyloepimetaphyseal dysplasia with abnormal dentition +OMIM:613649 skos:exactMatch HGNC_symbol:SNORD112 Unspecified SNORD112 +OMIM:613649 skos:exactMatch UMLS:C1823028 Unspecified SNORD112 +OMIM:613649 skos:exactMatch HGNC:32777 Unspecified SNORD112 +OMIM:613648 skos:exactMatch UMLS:C1422766 Unspecified MEG8 +OMIM:613648 skos:exactMatch HGNC_symbol:MEG8 Unspecified MEG8 +OMIM:613648 skos:exactMatch HGNC:14574 Unspecified MEG8 +OMIM:613647 skos:exactMatch UMLS:C3150901 Unspecified spastic paraplegia 48, autosomal recessive +OMIM:613646 skos:exactMatch UMLS:C3150900 Unspecified methylmalonic aciduria, transient, due to transcobalamin receptor defect +OMIM:613645 skos:exactMatch HGNC:20397 Unspecified ATF7IP2 +OMIM:613645 skos:exactMatch UMLS:C1426912 Unspecified ATF7IP2 +OMIM:613645 skos:exactMatch HGNC_symbol:ATF7IP2 Unspecified ATF7IP2 +OMIM:613644 skos:exactMatch HGNC:20092 Unspecified ATF7IP +OMIM:613644 skos:exactMatch HGNC_symbol:ATF7IP Unspecified ATF7IP +OMIM:613644 skos:exactMatch UMLS:C1426677 Unspecified ATF7IP +OMIM:613643 skos:exactMatch UMLS:C3150899 Unspecified parkinson disease 5, autosomal dominant, susceptibility to +OMIM:613642 skos:exactMatch UMLS:C3150898 Unspecified cardiomyopathy, dilated, 1gg +OMIM:613642 skos:exactMatch ORPHA:154 Unspecified cardiomyopathy, dilated, 1gg +OMIM:613641 skos:exactMatch UMLS:C3150897 Unspecified charcot-marie-tooth disease, recessive intermediate B +OMIM:613651 skos:exactMatch UMLS:C1823039 Unspecified SNORD114-1 +OMIM:613651 skos:exactMatch HGNC:32989 Unspecified SNORD114-1 +OMIM:613651 skos:exactMatch HGNC_symbol:SNORD114-1 Unspecified SNORD114-1 +OMIM:613650 skos:exactMatch HGNC:32980 Unspecified SNORD113-1 +OMIM:613650 skos:exactMatch HGNC_symbol:SNORD113-1 Unspecified SNORD113-1 +OMIM:613650 skos:exactMatch UMLS:C1823029 Unspecified SNORD113-1 +OMIM:601670 skos:exactMatch HGNC_symbol:DPF1 Unspecified DPF1 +OMIM:601670 skos:exactMatch UMLS:C1426788 Unspecified DPF1 +OMIM:601670 skos:exactMatch HGNC:20225 Unspecified DPF1 +OMIM:601671 skos:exactMatch HGNC:9964 Unspecified DPF2 +OMIM:601671 skos:exactMatch HGNC_symbol:DPF2 Unspecified DPF2 +OMIM:601671 skos:exactMatch UMLS:C1419344 Unspecified DPF2 +OMIM:124900 skos:exactMatch ORPHA:494444 Unspecified deafness, autosomal dominant 1, with or without thrombocytopenia +OMIM:124900 skos:exactMatch UMLS:C1852282 Unspecified deafness, autosomal dominant 1, with or without thrombocytopenia +OMIM:601672 skos:exactMatch HGNC_symbol:DPF3 Unspecified DPF3 +OMIM:601672 skos:exactMatch UMLS:C1424962 Unspecified DPF3 +OMIM:601672 skos:exactMatch HGNC:17427 Unspecified DPF3 +OMIM:601651 skos:exactMatch HGNC_symbol:NAP1L4 Unspecified NAP1L4 +OMIM:601651 skos:exactMatch HGNC:7640 Unspecified NAP1L4 +OMIM:601651 skos:exactMatch UMLS:C1417598 Unspecified NAP1L4 +OMIM:601652 skos:exactMatch UMLS:C1866550 Unspecified MYOC +OMIM:601652 skos:exactMatch HGNC:7610 Unspecified MYOC +OMIM:601652 skos:exactMatch HGNC_symbol:MYOC Unspecified MYOC +OMIM:601652 skos:exactMatch UMLS:C4016749 Unspecified MYOC +OMIM:601652 skos:exactMatch UMLS:C4016750 Unspecified MYOC +OMIM:601652 skos:exactMatch UMLS:C1842028 Unspecified MYOC +OMIM:601652 skos:exactMatch UMLS:C1417573 Unspecified MYOC +OMIM:601653 skos:exactMatch HGNC:3519 Unspecified EYA1 +OMIM:601653 skos:exactMatch UMLS:C1414490 Unspecified EYA1 +OMIM:601653 skos:exactMatch HGNC_symbol:EYA1 Unspecified EYA1 +OMIM:601654 skos:exactMatch HGNC:3520 Unspecified EYA2 +OMIM:601654 skos:exactMatch UMLS:C1414491 Unspecified EYA2 +OMIM:601654 skos:exactMatch HGNC_symbol:EYA2 Unspecified EYA2 +OMIM:601655 skos:exactMatch HGNC:3521 Unspecified EYA3 +OMIM:601655 skos:exactMatch UMLS:C1414492 Unspecified EYA3 +OMIM:601655 skos:exactMatch HGNC_symbol:EYA3 Unspecified EYA3 +OMIM:601656 skos:exactMatch HGNC_symbol:GATA6 Unspecified GATA6 +OMIM:601656 skos:exactMatch UMLS:C1414996 Unspecified GATA6 +OMIM:601656 skos:exactMatch HGNC:4174 Unspecified GATA6 +OMIM:601657 skos:exactMatch HGNC:3053 Unspecified EPYC +OMIM:601657 skos:exactMatch UMLS:C1825058 Unspecified EPYC +OMIM:601657 skos:exactMatch HGNC_symbol:EPYC Unspecified EPYC +OMIM:613639 skos:exactMatch HGNC:19893 Unspecified ADGRD1 +OMIM:613639 skos:exactMatch HGNC_symbol:ADGRD1 Unspecified ADGRD1 +OMIM:613639 skos:exactMatch UMLS:C1426509 Unspecified ADGRD1 +OMIM:613638 skos:exactMatch UMLS:C3150895 Unspecified chromosome 19p13.13 deletion syndrome +OMIM:613638 skos:exactMatch UMLS:C3150894 Unspecified chromosome 19p13.13 deletion syndrome +OMIM:601658 skos:exactMatch UMLS:C1417924 Unspecified OC90 +OMIM:601658 skos:exactMatch HGNC:8100 Unspecified OC90 +OMIM:601658 skos:exactMatch HGNC_symbol:OC90 Unspecified OC90 +OMIM:613637 skos:exactMatch UMLS:C3150893 Unspecified tuberculin skin test reactivity quantitative trait locus +OMIM:601659 skos:exactMatch HGNC:1273 Unspecified GATD3A +OMIM:601659 skos:exactMatch HGNC_symbol:GATD3 Unspecified GATD3A +OMIM:601659 skos:exactMatch UMLS:C1412958 Unspecified GATD3A +OMIM:613636 skos:exactMatch UMLS:C3150892 Unspecified tuberculin skin test reactivity, absence of +OMIM:613635 skos:exactMatch HGNC:24921 Unspecified EIF2AK1 +OMIM:613635 skos:exactMatch HGNC_symbol:EIF2AK1 Unspecified EIF2AK1 +OMIM:613635 skos:exactMatch UMLS:C5394371 Unspecified EIF2AK1 +OMIM:613635 skos:exactMatch UMLS:C1539340 Unspecified EIF2AK1 +OMIM:613634 skos:exactMatch UMLS:C1824908 Unspecified DENND1C +OMIM:613634 skos:exactMatch HGNC_symbol:DENND1C Unspecified DENND1C +OMIM:613634 skos:exactMatch HGNC:26225 Unspecified DENND1C +OMIM:613633 skos:exactMatch HGNC:29324 Unspecified DENND1A +OMIM:613633 skos:exactMatch UMLS:C1824906 Unspecified DENND1A +OMIM:613633 skos:exactMatch HGNC_symbol:DENND1A Unspecified DENND1A +OMIM:613632 skos:exactMatch UMLS:C2240171 Unspecified WASHC1 +OMIM:613632 skos:exactMatch HGNC_symbol:WASHC1 Unspecified WASHC1 +OMIM:613632 skos:exactMatch HGNC:24361 Unspecified WASHC1 +OMIM:112910 skos:exactMatch UMLS:C1862130 Unspecified osebold-remondini syndrome +OMIM:613631 skos:exactMatch HGNC_symbol:WASHC2C Unspecified WASHC2C +OMIM:613631 skos:exactMatch UMLS:C1539397 Unspecified WASHC2C +OMIM:613631 skos:exactMatch HGNC:23414 Unspecified WASHC2C +OMIM:613630 skos:exactMatch ORPHA:465824 Unspecified fetal encasement syndrome +OMIM:613630 skos:exactMatch UMLS:C3150891 Unspecified fetal encasement syndrome +OMIM:613640 skos:exactMatch UMLS:C3150896 Unspecified neuropathy, hereditary sensory and autonomic, iia 1c +OMIM:278000 skos:exactMatch UMLS:C0043208 Unspecified lysosomal acid lipase deficiency +OMIM:601661 skos:exactMatch HGNC:12485 Unspecified UBE2I +OMIM:601661 skos:exactMatch UMLS:C1421283 Unspecified UBE2I +OMIM:601661 skos:exactMatch HGNC_symbol:UBE2I Unspecified UBE2I +OMIM:303400 skos:exactMatch UMLS:C1844830 Unspecified cleft palate with or without ankyloglossia, X-linked +OMIM:601641 skos:exactMatch HGNC:120 Unspecified ACOX2 +OMIM:601641 skos:exactMatch HGNC_symbol:ACOX2 Unspecified ACOX2 +OMIM:601641 skos:exactMatch UMLS:C1412129 Unspecified ACOX2 +OMIM:601642 skos:exactMatch HGNC:5972 Unspecified IL12RB2 +OMIM:601642 skos:exactMatch UMLS:C1416384 Unspecified IL12RB2 +OMIM:601642 skos:exactMatch HGNC_symbol:IL12RB2 Unspecified IL12RB2 +OMIM:601643 skos:exactMatch HGNC_symbol:PPP2R5A Unspecified PPP2R5A +OMIM:601643 skos:exactMatch UMLS:C1418842 Unspecified PPP2R5A +OMIM:601643 skos:exactMatch HGNC:9309 Unspecified PPP2R5A +OMIM:601644 skos:exactMatch HGNC_symbol:PPP2R5B Unspecified PPP2R5B +OMIM:601644 skos:exactMatch UMLS:C1418843 Unspecified PPP2R5B +OMIM:601644 skos:exactMatch HGNC:9310 Unspecified PPP2R5B +OMIM:613629 skos:exactMatch UMLS:C1539429 Unspecified PIEZO2 +OMIM:613629 skos:exactMatch HGNC_symbol:PIEZO2 Unspecified PIEZO2 +OMIM:613629 skos:exactMatch HGNC:26270 Unspecified PIEZO2 +OMIM:601645 skos:exactMatch HGNC_symbol:PPP2R5C Unspecified PPP2R5C +OMIM:601645 skos:exactMatch UMLS:C1418844 Unspecified PPP2R5C +OMIM:601645 skos:exactMatch HGNC:9311 Unspecified PPP2R5C +OMIM:613628 skos:exactMatch UMLS:C1846439 Unspecified odontoid hypoplasia +OMIM:601646 skos:exactMatch HGNC_symbol:PPP2R5D Unspecified PPP2R5D +OMIM:601646 skos:exactMatch HGNC:9312 Unspecified PPP2R5D +OMIM:601646 skos:exactMatch UMLS:C1335248 Unspecified PPP2R5D +OMIM:601647 skos:exactMatch HGNC_symbol:PPP2R5E Unspecified PPP2R5E +OMIM:601647 skos:exactMatch HGNC:9313 Unspecified PPP2R5E +OMIM:601647 skos:exactMatch UMLS:C1335249 Unspecified PPP2R5E +OMIM:613627 skos:exactMatch UMLS:C3150890 Unspecified brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation +OMIM:601648 skos:exactMatch HGNC_symbol:PSMD4 Unspecified PSMD4 +OMIM:601648 skos:exactMatch HGNC:9561 Unspecified PSMD4 +OMIM:601648 skos:exactMatch UMLS:C1419034 Unspecified PSMD4 +OMIM:613625 skos:exactMatch UMLS:C3150889 Unspecified factor 5 and factor viii, combined deficiency of, 2 +OMIM:613624 skos:exactMatch HGNC_symbol:ZNF592 Unspecified ZNF592 +OMIM:613624 skos:exactMatch UMLS:C1428764 Unspecified ZNF592 +OMIM:613624 skos:exactMatch HGNC:28986 Unspecified ZNF592 +OMIM:256690 skos:exactMatch UMLS:C0796088 Unspecified neurofaciodigitorenal syndrome +OMIM:613623 skos:exactMatch UMLS:C3150887 Unspecified agenesis of the corpus callosum and congenital lymphedema +OMIM:613622 skos:exactMatch UMLS:C1825311 Unspecified FOXRED1 +OMIM:613622 skos:exactMatch HGNC_symbol:FOXRED1 Unspecified FOXRED1 +OMIM:613622 skos:exactMatch HGNC:26927 Unspecified FOXRED1 +OMIM:613621 skos:exactMatch UMLS:C1538495 Unspecified NUBPL +OMIM:613621 skos:exactMatch HGNC:20278 Unspecified NUBPL +OMIM:613621 skos:exactMatch UMLS:C4748792 Unspecified NUBPL +OMIM:613621 skos:exactMatch HGNC_symbol:NUBPL Unspecified NUBPL +OMIM:613620 skos:exactMatch UMLS:C1539932 Unspecified TBC1D10B +OMIM:613620 skos:exactMatch HGNC_symbol:TBC1D10B Unspecified TBC1D10B +OMIM:613620 skos:exactMatch HGNC:24510 Unspecified TBC1D10B +OMIM:601650 skos:exactMatch UMLS:C1866552 Unspecified paragangliomas 2 +OMIM:601631 skos:exactMatch UMLS:C1839928 Unspecified anterior segment dysgenesis 3 +OMIM:601631 skos:exactMatch UMLS:C1866560 Unspecified anterior segment dysgenesis 3 +OMIM:601632 skos:exactMatch UMLS:C1418765 Unspecified POU4F1 +OMIM:601632 skos:exactMatch HGNC:9218 Unspecified POU4F1 +OMIM:601632 skos:exactMatch HGNC_symbol:POU4F1 Unspecified POU4F1 +OMIM:613619 skos:exactMatch HGNC_symbol:SCARF2 Unspecified SCARF2 +OMIM:613619 skos:exactMatch HGNC:19869 Unspecified SCARF2 +OMIM:613619 skos:exactMatch UMLS:C1426494 Unspecified SCARF2 +OMIM:601633 skos:exactMatch UMLS:C1417857 Unspecified NSF +OMIM:601633 skos:exactMatch HGNC:8016 Unspecified NSF +OMIM:601633 skos:exactMatch HGNC_symbol:NSF Unspecified NSF +OMIM:601634 skos:exactMatch UMLS:C1866559 Unspecified neural tube defects, folate-sensitive +OMIM:601634 skos:exactMatch UMLS:C1866558 Unspecified neural tube defects, folate-sensitive +OMIM:613618 skos:exactMatch UMLS:C3150880 Unspecified chromosome 17q23.1-q23.2 duplication syndrome +OMIM:242050 skos:exactMatch UMLS:C1855793 Unspecified hypouricemia, hypercalcinuria, and decreased bone density +OMIM:613617 skos:exactMatch UMLS:C3150879 Unspecified retinitis pigmentosa 58 +OMIM:601636 skos:exactMatch HGNC:4819 Unspecified HAS2 +OMIM:601636 skos:exactMatch UMLS:C1415475 Unspecified HAS2 +OMIM:601636 skos:exactMatch HGNC_symbol:HAS2 Unspecified HAS2 +OMIM:613616 skos:exactMatch ORPHA:416 Unspecified hyperoxaluria, primary, iia 3 +OMIM:613616 skos:exactMatch UMLS:C3150878 Unspecified hyperoxaluria, primary, iia 3 +OMIM:613616 skos:exactMatch ORPHA:93600 Unspecified hyperoxaluria, primary, iia 3 +OMIM:613615 skos:exactMatch UMLS:C3150877 Unspecified senior-loken syndrome 7 +OMIM:601637 skos:exactMatch HGNC_symbol:CYP51A1 Unspecified CYP51A1 +OMIM:601637 skos:exactMatch HGNC:2649 Unspecified CYP51A1 +OMIM:601637 skos:exactMatch UMLS:C1413892 Unspecified CYP51A1 +OMIM:613614 skos:exactMatch HGNC_symbol:MIR499A Unspecified MIR499 +OMIM:613614 skos:exactMatch UMLS:C1826053 Unspecified MIR499 +OMIM:613614 skos:exactMatch HGNC:32133 Unspecified MIR499 +OMIM:601638 skos:exactMatch UMLS:C1424785 Unspecified ARFIP2 +OMIM:601638 skos:exactMatch HGNC:17160 Unspecified ARFIP2 +OMIM:601638 skos:exactMatch HGNC_symbol:ARFIP2 Unspecified ARFIP2 +OMIM:601639 skos:exactMatch UMLS:C4014425 Unspecified PRKACA +OMIM:601639 skos:exactMatch UMLS:C1418901 Unspecified PRKACA +OMIM:601639 skos:exactMatch UMLS:C5436885 Unspecified PRKACA +OMIM:601639 skos:exactMatch HGNC_symbol:PRKACA Unspecified PRKACA +OMIM:601639 skos:exactMatch HGNC:9380 Unspecified PRKACA +OMIM:613613 skos:exactMatch UMLS:C2239686 Unspecified MIR208B +OMIM:613613 skos:exactMatch HGNC:33669 Unspecified MIR208B +OMIM:613613 skos:exactMatch HGNC_symbol:MIR208B Unspecified MIR208B +OMIM:613612 skos:exactMatch UMLS:C3150876 Unspecified congenital disorder of glycosylation, iia iii +OMIM:613612 skos:exactMatch ORPHA:263487 Unspecified congenital disorder of glycosylation, iia iii +OMIM:613611 skos:exactMatch UMLS:C3150875 Unspecified choanal atresia and lymphedema +OMIM:613610 skos:exactMatch ORPHA:1515 Unspecified cranioectodermal dysplasia 2 +OMIM:613610 skos:exactMatch UMLS:C3150874 Unspecified cranioectodermal dysplasia 2 +OMIM:136800 skos:exactMatch UMLS:C1850959 Unspecified corneal dystrophy, fuchs endothelial, 1 +OMIM:268650 skos:exactMatch UMLS:C0406704 Unspecified rudiger syndrome +OMIM:611029 skos:exactMatch HGNC:27254 Unspecified TMEM30B +OMIM:611029 skos:exactMatch HGNC_symbol:TMEM30B Unspecified TMEM30B +OMIM:611029 skos:exactMatch UMLS:C1540000 Unspecified TMEM30B +OMIM:611027 skos:exactMatch HGNC_symbol:SHCBP1 Unspecified SHCBP1 +OMIM:611027 skos:exactMatch UMLS:C1539766 Unspecified SHCBP1 +OMIM:611027 skos:exactMatch HGNC:29547 Unspecified SHCBP1 +OMIM:613689 skos:exactMatch ORPHA:238744 Unspecified mammary-digital-nail syndrome +OMIM:613689 skos:exactMatch UMLS:C3150946 Unspecified mammary-digital-nail syndrome +OMIM:611028 skos:exactMatch HGNC:16667 Unspecified TMEM30A +OMIM:611028 skos:exactMatch HGNC_symbol:TMEM30A Unspecified TMEM30A +OMIM:611028 skos:exactMatch UMLS:C1539999 Unspecified TMEM30A +OMIM:613688 skos:exactMatch UMLS:C3888153 Unspecified long qt syndrome 2 +OMIM:613688 skos:exactMatch UMLS:C3279092 Unspecified long qt syndrome 2 +OMIM:613688 skos:exactMatch UMLS:C3279093 Unspecified long qt syndrome 2 +OMIM:613688 skos:exactMatch UMLS:C3150943 Unspecified long qt syndrome 2 +OMIM:613688 skos:exactMatch UMLS:C3276240 Unspecified long qt syndrome 2 +OMIM:613688 skos:exactMatch UMLS:C3277700 Unspecified long qt syndrome 2 +OMIM:611025 skos:exactMatch HGNC_symbol:ENKUR Unspecified ENKUR +OMIM:611025 skos:exactMatch UMLS:C2986382 Unspecified ENKUR +OMIM:611025 skos:exactMatch UMLS:C1428701 Unspecified ENKUR +OMIM:611025 skos:exactMatch HGNC:28388 Unspecified ENKUR +OMIM:611026 skos:exactMatch UMLS:C3496228 Unspecified FA2H +OMIM:611026 skos:exactMatch HGNC_symbol:FA2H Unspecified FA2H +OMIM:611026 skos:exactMatch HGNC:21197 Unspecified FA2H +OMIM:611026 skos:exactMatch UMLS:C1427405 Unspecified FA2H +OMIM:613687 skos:exactMatch HGNC:26074 Unspecified PARPBP +OMIM:613687 skos:exactMatch HGNC_symbol:PARPBP Unspecified PARPBP +OMIM:613687 skos:exactMatch UMLS:C1824369 Unspecified PARPBP +OMIM:611023 skos:exactMatch HGNC:23141 Unspecified TRMT5 +OMIM:611023 skos:exactMatch HGNC_symbol:TRMT5 Unspecified TRMT5 +OMIM:611023 skos:exactMatch UMLS:C1823499 Unspecified TRMT5 +OMIM:613686 skos:exactMatch UMLS:C3150942 Unspecified spondylocostal dysostosis 4, autosomal recessive +OMIM:611024 skos:exactMatch HGNC:28854 Unspecified ZNF667 +OMIM:611024 skos:exactMatch UMLS:C1538231 Unspecified ZNF667 +OMIM:611024 skos:exactMatch HGNC_symbol:ZNF667 Unspecified ZNF667 +OMIM:613685 skos:exactMatch UMLS:C3888310 Unspecified deafness, autosomal recessive 83 +OMIM:611032 skos:exactMatch HGNC:25184 Unspecified SPATA17 +OMIM:611032 skos:exactMatch HGNC_symbol:SPATA17 Unspecified SPATA17 +OMIM:611032 skos:exactMatch UMLS:C1823089 Unspecified SPATA17 +OMIM:613695 skos:exactMatch UMLS:C3279092 Unspecified long qt syndrome 5 +OMIM:613695 skos:exactMatch UMLS:C3150956 Unspecified long qt syndrome 5 +OMIM:613695 skos:exactMatch UMLS:C1867904 Unspecified long qt syndrome 5 +OMIM:254000 skos:exactMatch UMLS:C1850864 Unspecified muscular dystrophy, congenital, with infantile cataract and hypogonadism +OMIM:611033 skos:exactMatch HGNC:13231 Unspecified C11ORF21 +OMIM:611033 skos:exactMatch UMLS:C1421892 Unspecified C11ORF21 +OMIM:611033 skos:exactMatch HGNC_symbol:C11orf21 Unspecified C11ORF21 +OMIM:613694 skos:exactMatch UMLS:C3160720 Unspecified cardiomyopathy, dilated, 1u +OMIM:611030 skos:exactMatch HGNC:30443 Unspecified TMEM30C +OMIM:611030 skos:exactMatch HGNC_symbol:TMEM30CP Unspecified TMEM30C +OMIM:611030 skos:exactMatch UMLS:C1540001 Unspecified TMEM30C +OMIM:613693 skos:exactMatch UMLS:C3150954 Unspecified long qt syndrome 6 +OMIM:613693 skos:exactMatch UMLS:C3150953 Unspecified long qt syndrome 6 +OMIM:613693 skos:exactMatch UMLS:C3276241 Unspecified long qt syndrome 6 +OMIM:613692 skos:exactMatch HGNC_symbol:TUT4 Unspecified TUT4 +OMIM:613692 skos:exactMatch UMLS:C1428762 Unspecified TUT4 +OMIM:613692 skos:exactMatch HGNC:28981 Unspecified TUT4 +OMIM:611031 skos:exactMatch UMLS:C1970238 Unspecified episodic kinesigenic dyskinesia 2 +OMIM:613691 skos:exactMatch UMLS:C2266648 Unspecified GRAMD4 +OMIM:613691 skos:exactMatch HGNC:29113 Unspecified GRAMD4 +OMIM:613691 skos:exactMatch HGNC_symbol:GRAMD4 Unspecified GRAMD4 +OMIM:613690 skos:exactMatch UMLS:C1860752 Unspecified cardiomyopathy, familial hypertrophic, 7 +OMIM:229050 skos:exactMatch UMLS:C0342705 Unspecified folate malabsorption, hereditary +OMIM:601695 skos:exactMatch HGNC_symbol:CSN3 Unspecified CSN3 +OMIM:601695 skos:exactMatch UMLS:C1384513 Unspecified CSN3 +OMIM:601695 skos:exactMatch HGNC:2446 Unspecified CSN3 +OMIM:601696 skos:exactMatch UMLS:C1866430 Unspecified novelty seeking personality trait +OMIM:601696 skos:exactMatch UMLS:C0683303 Unspecified novelty seeking personality trait +OMIM:601697 skos:exactMatch HGNC:8952 Unspecified SERPINB8 +OMIM:601697 skos:exactMatch UMLS:C1418553 Unspecified SERPINB8 +OMIM:601697 skos:exactMatch HGNC_symbol:SERPINB8 Unspecified SERPINB8 +OMIM:601698 skos:exactMatch HGNC:9677 Unspecified PTPRN2 +OMIM:601698 skos:exactMatch UMLS:C1419120 Unspecified PTPRN2 +OMIM:601698 skos:exactMatch HGNC_symbol:PTPRN2 Unspecified PTPRN2 +OMIM:136820 skos:exactMatch UMLS:C1414859 Unspecified FUCA2 +OMIM:136820 skos:exactMatch HGNC:4008 Unspecified FUCA2 +OMIM:136820 skos:exactMatch HGNC_symbol:FUCA2 Unspecified FUCA2 +OMIM:601699 skos:exactMatch HGNC:9603 Unspecified PTGIS +OMIM:601699 skos:exactMatch HGNC_symbol:PTGIS Unspecified PTGIS +OMIM:601699 skos:exactMatch UMLS:C1419071 Unspecified PTGIS +OMIM:611018 skos:exactMatch HGNC:29200 Unspecified PAIP2B +OMIM:611018 skos:exactMatch UMLS:C1970240 Unspecified PAIP2B +OMIM:611018 skos:exactMatch HGNC_symbol:PAIP2B Unspecified PAIP2B +OMIM:611019 skos:exactMatch UMLS:C1825509 Unspecified ATP6V0E2 +OMIM:611019 skos:exactMatch HGNC_symbol:ATP6V0E2 Unspecified ATP6V0E2 +OMIM:611019 skos:exactMatch HGNC:21723 Unspecified ATP6V0E2 +OMIM:613679 skos:exactMatch UMLS:C0272317 Unspecified prothrombin deficiency, congenital +OMIM:613679 skos:exactMatch UMLS:C0020640 Unspecified prothrombin deficiency, congenital +OMIM:611016 skos:exactMatch UMLS:C1970242 Unspecified autism, susceptibility to, 10 +OMIM:217070 skos:exactMatch HGNC:1346 Unspecified C7 +OMIM:217070 skos:exactMatch HGNC_symbol:C7 Unspecified C7 +OMIM:217070 skos:exactMatch UMLS:C1413019 Unspecified C7 +OMIM:217070 skos:exactMatch UMLS:C1864694 Unspecified C7 +OMIM:217070 skos:exactMatch UMLS:C4017564 Unspecified C7 +OMIM:611017 skos:exactMatch HGNC_symbol:TYSND1 Unspecified TYSND1 +OMIM:611017 skos:exactMatch HGNC:28531 Unspecified TYSND1 +OMIM:611017 skos:exactMatch UMLS:C1540143 Unspecified TYSND1 +OMIM:613678 skos:exactMatch UMLS:C3159322 Unspecified brachyolmia iia 2 +OMIM:611014 skos:exactMatch UMLS:C1970244 Unspecified hypertension, essential, susceptibility to, 8 +OMIM:613677 skos:exactMatch UMLS:C3150933 Unspecified hyperaldosteronism, familial, iia 3 +OMIM:611015 skos:exactMatch UMLS:C1970243 Unspecified autism, susceptibility to, 9 +OMIM:613676 skos:exactMatch UMLS:C3888212 Unspecified seckel syndrome 4 +OMIM:613675 skos:exactMatch ORPHA:137634 Unspecified chromosome 17q11.2 deletion syndrome, 1.4-mb +OMIM:613675 skos:exactMatch ORPHA:636 Unspecified chromosome 17q11.2 deletion syndrome, 1.4-mb +OMIM:613675 skos:exactMatch ORPHA:97685 Unspecified chromosome 17q11.2 deletion syndrome, 1.4-mb +OMIM:613675 skos:exactMatch UMLS:C3150928 Unspecified chromosome 17q11.2 deletion syndrome, 1.4-mb +OMIM:611012 skos:exactMatch UMLS:C1425666 Unspecified RGSL1 +OMIM:611012 skos:exactMatch HGNC_symbol:RGSL1 Unspecified RGSL1 +OMIM:611012 skos:exactMatch HGNC:18636 Unspecified RGSL1 +OMIM:613674 skos:exactMatch UMLS:C3150927 Unspecified vesicoureteral reflux 3 +OMIM:611013 skos:exactMatch UMLS:C1425665 Unspecified RGSL2 +OMIM:613684 skos:exactMatch UMLS:C3150941 Unspecified rubinstein-taybi syndrome 2 +OMIM:611021 skos:exactMatch UMLS:C1538068 Unspecified NMD3 +OMIM:611021 skos:exactMatch HGNC:24250 Unspecified NMD3 +OMIM:611021 skos:exactMatch HGNC_symbol:NMD3 Unspecified NMD3 +OMIM:613683 skos:exactMatch HGNC:30657 Unspecified SLC50A1 +OMIM:613683 skos:exactMatch UMLS:C1826764 Unspecified SLC50A1 +OMIM:613683 skos:exactMatch HGNC_symbol:SLC50A1 Unspecified SLC50A1 +OMIM:229045 skos:exactMatch UMLS:C0206067 Unspecified focal epithelial hyperplasia, oral +OMIM:611022 skos:exactMatch UMLS:C1970239 Unspecified deafness, autosomal recessive 24 +OMIM:613682 skos:exactMatch HGNC_symbol:MIR130B Unspecified MIR130B +OMIM:613682 skos:exactMatch UMLS:C1537780 Unspecified MIR130B +OMIM:613682 skos:exactMatch HGNC:31515 Unspecified MIR130B +OMIM:611020 skos:exactMatch HGNC:31586 Unspecified MIR21 +OMIM:611020 skos:exactMatch UMLS:C1537719 Unspecified MIR21 +OMIM:611020 skos:exactMatch HGNC_symbol:MIR21 Unspecified MIR21 +OMIM:613681 skos:exactMatch UMLS:C3150940 Unspecified chromosome 2q31.1 duplication syndrome +OMIM:613680 skos:exactMatch ORPHA:363444 Unspecified beaulieu-boycott-innes syndrome +OMIM:613680 skos:exactMatch UMLS:C3150939 Unspecified beaulieu-boycott-innes syndrome +OMIM:148800 skos:exactMatch UMLS:C1860050 Unspecified kleeblattschaedel +OMIM:601684 skos:exactMatch HGNC_symbol:RPS6KA1 Unspecified RPS6KA1 +OMIM:601684 skos:exactMatch UMLS:C1419742 Unspecified RPS6KA1 +OMIM:601684 skos:exactMatch HGNC:10430 Unspecified RPS6KA1 +OMIM:601685 skos:exactMatch HGNC_symbol:RPS6KA2 Unspecified RPS6KA2 +OMIM:601685 skos:exactMatch UMLS:C1419743 Unspecified RPS6KA2 +OMIM:601685 skos:exactMatch HGNC:10431 Unspecified RPS6KA2 +OMIM:601686 skos:exactMatch HGNC_symbol:TEP1 Unspecified TEP1 +OMIM:601686 skos:exactMatch UMLS:C1336603 Unspecified TEP1 +OMIM:601686 skos:exactMatch HGNC:11726 Unspecified TEP1 +OMIM:136830 skos:exactMatch UMLS:C1850954 Unspecified fucosidase regulator +OMIM:601687 skos:exactMatch HGNC_symbol:KRT12 Unspecified KRT12 +OMIM:601687 skos:exactMatch HGNC:6414 Unspecified KRT12 +OMIM:601687 skos:exactMatch UMLS:C5231499 Unspecified KRT12 +OMIM:601687 skos:exactMatch UMLS:C1416715 Unspecified KRT12 +OMIM:601688 skos:exactMatch UMLS:C1415699 Unspecified HPGD +OMIM:601688 skos:exactMatch UMLS:C2678439 Unspecified HPGD +OMIM:601688 skos:exactMatch UMLS:C4551679 Unspecified HPGD +OMIM:601688 skos:exactMatch UMLS:C0345408 Unspecified HPGD +OMIM:601688 skos:exactMatch HGNC:5154 Unspecified HPGD +OMIM:601688 skos:exactMatch HGNC_symbol:HPGD Unspecified HPGD +OMIM:601689 skos:exactMatch HGNC:11538 Unspecified TAF4B +OMIM:601689 skos:exactMatch HGNC_symbol:TAF4B Unspecified TAF4B +OMIM:601689 skos:exactMatch UMLS:C4014449 Unspecified TAF4B +OMIM:601689 skos:exactMatch UMLS:C1420572 Unspecified TAF4B +OMIM:611009 skos:exactMatch HGNC:16734 Unspecified MEX3D +OMIM:611009 skos:exactMatch UMLS:C1424512 Unspecified MEX3D +OMIM:611009 skos:exactMatch HGNC_symbol:MEX3D Unspecified MEX3D +OMIM:217085 skos:exactMatch ORPHA:1338 Unspecified congenital heart defects, hamartomas of tongue, and polysyndactyly +OMIM:217085 skos:exactMatch UMLS:C1857587 Unspecified congenital heart defects, hamartomas of tongue, and polysyndactyly +OMIM:217080 skos:exactMatch UMLS:C3495589 Unspecified jalili syndrome +OMIM:217080 skos:exactMatch ORPHA:1873 Unspecified jalili syndrome +OMIM:611007 skos:exactMatch HGNC:33482 Unspecified MEX3A +OMIM:611007 skos:exactMatch UMLS:C1970246 Unspecified MEX3A +OMIM:611007 skos:exactMatch HGNC_symbol:MEX3A Unspecified MEX3A +OMIM:136836 skos:exactMatch UMLS:C1414867 Unspecified FUT6 +OMIM:136836 skos:exactMatch HGNC_symbol:FUT6 Unspecified FUT6 +OMIM:136836 skos:exactMatch HGNC:4017 Unspecified FUT6 +OMIM:613669 skos:exactMatch UMLS:C1428497 Unspecified MTPAP +OMIM:613669 skos:exactMatch HGNC:25532 Unspecified MTPAP +OMIM:613669 skos:exactMatch HGNC_symbol:MTPAP Unspecified MTPAP +OMIM:611008 skos:exactMatch HGNC:25297 Unspecified MEX3B +OMIM:611008 skos:exactMatch HGNC_symbol:MEX3B Unspecified MEX3B +OMIM:611008 skos:exactMatch UMLS:C1538845 Unspecified MEX3B +OMIM:613668 skos:exactMatch UMLS:C3150921 Unspecified microcephaly, postnatal progressive, with seizures and brain atrophy +OMIM:611005 skos:exactMatch HGNC:28040 Unspecified MEX3C +OMIM:611005 skos:exactMatch HGNC_symbol:MEX3C Unspecified MEX3C +OMIM:611005 skos:exactMatch UMLS:C1538844 Unspecified MEX3C +OMIM:611006 skos:exactMatch UMLS:C4539919 Unspecified ISCA1 +OMIM:611006 skos:exactMatch UMLS:C1428729 Unspecified ISCA1 +OMIM:611006 skos:exactMatch HGNC:28660 Unspecified ISCA1 +OMIM:611006 skos:exactMatch HGNC_symbol:ISCA1 Unspecified ISCA1 +OMIM:613667 skos:exactMatch HGNC:29256 Unspecified SOBP +OMIM:613667 skos:exactMatch HGNC_symbol:SOBP Unspecified SOBP +OMIM:613667 skos:exactMatch UMLS:C2240038 Unspecified SOBP +OMIM:613666 skos:exactMatch HGNC:32456 Unspecified ALG11 +OMIM:613666 skos:exactMatch UMLS:C1876205 Unspecified ALG11 +OMIM:613666 skos:exactMatch HGNC_symbol:ALG11 Unspecified ALG11 +OMIM:613666 skos:exactMatch UMLS:C3150913 Unspecified ALG11 +OMIM:611003 skos:exactMatch UMLS:C1970249 Unspecified smoking as a quantitative trait locus 1 +OMIM:611004 skos:exactMatch UMLS:C1970248 Unspecified smoking as a quantitative trait locus 2 +OMIM:613665 skos:exactMatch UMLS:C1824884 Unspecified ACKR1 +OMIM:613665 skos:exactMatch HGNC:4035 Unspecified ACKR1 +OMIM:613665 skos:exactMatch HGNC_symbol:ACKR1 Unspecified ACKR1 +OMIM:613664 skos:exactMatch HGNC:32394 Unspecified SMTNL1 +OMIM:613664 skos:exactMatch UMLS:C1822792 Unspecified SMTNL1 +OMIM:613664 skos:exactMatch HGNC_symbol:SMTNL1 Unspecified SMTNL1 +OMIM:611001 skos:exactMatch HGNC_symbol:MEAF6 Unspecified MEAF6 +OMIM:611001 skos:exactMatch UMLS:C1823768 Unspecified MEAF6 +OMIM:611001 skos:exactMatch HGNC:25674 Unspecified MEAF6 +OMIM:136835 skos:exactMatch HGNC_symbol:FUT5 Unspecified FUT5 +OMIM:136835 skos:exactMatch UMLS:C1414866 Unspecified FUT5 +OMIM:136835 skos:exactMatch HGNC:4016 Unspecified FUT5 +OMIM:613663 skos:exactMatch HGNC_symbol:SHQ1 Unspecified SHQ1 +OMIM:613663 skos:exactMatch HGNC:25543 Unspecified SHQ1 +OMIM:613663 skos:exactMatch UMLS:C1539769 Unspecified SHQ1 +OMIM:611002 skos:exactMatch HGNC:14158 Unspecified TMEM204 +OMIM:611002 skos:exactMatch HGNC_symbol:TMEM204 Unspecified TMEM204 +OMIM:611002 skos:exactMatch UMLS:C1422452 Unspecified TMEM204 +OMIM:611010 skos:exactMatch UMLS:C1970245 Unspecified fibromatosis, gingival, 4 +OMIM:613673 skos:exactMatch UMLS:C3150926 Unspecified anemia, congenital dyserythropoietic, iia 4 +OMIM:613673 skos:exactMatch ORPHA:293825 Unspecified anemia, congenital dyserythropoietic, iia 4 +OMIM:611011 skos:exactMatch HGNC_symbol:TMEM259 Unspecified TMEM259 +OMIM:611011 skos:exactMatch UMLS:C1424703 Unspecified TMEM259 +OMIM:611011 skos:exactMatch HGNC:17039 Unspecified TMEM259 +OMIM:613672 skos:exactMatch UMLS:C3150925 Unspecified spastic ataxia 4, autosomal recessive +OMIM:613671 skos:exactMatch UMLS:C3150924 Unspecified mental retardation, anterior maxillary protrusion, and strabismus +OMIM:613670 skos:exactMatch UMLS:C4013764 Unspecified mental retardation with language impairment and with or without autistic features +OMIM:229070 skos:exactMatch UMLS:C1856716 Unspecified hypogonadotropic hypogonadism 24 with or without anosmia +OMIM:601690 skos:exactMatch UMLS:C1418625 Unspecified PLA2G7 +OMIM:601690 skos:exactMatch HGNC_symbol:PLA2G7 Unspecified PLA2G7 +OMIM:601690 skos:exactMatch HGNC:9040 Unspecified PLA2G7 +OMIM:601691 skos:exactMatch UMLS:C0271093 Unspecified ABCA4 +OMIM:601691 skos:exactMatch UMLS:C1970573 Unspecified ABCA4 +OMIM:601691 skos:exactMatch UMLS:C1858806 Unspecified ABCA4 +OMIM:601691 skos:exactMatch UMLS:C1855465 Unspecified ABCA4 +OMIM:601691 skos:exactMatch HGNC_symbol:ABCA4 Unspecified ABCA4 +OMIM:601691 skos:exactMatch UMLS:C1866422 Unspecified ABCA4 +OMIM:601691 skos:exactMatch HGNC:34 Unspecified ABCA4 +OMIM:601691 skos:exactMatch UMLS:C1412063 Unspecified ABCA4 +OMIM:601691 skos:exactMatch UMLS:C1858080 Unspecified ABCA4 +OMIM:601692 skos:exactMatch UMLS:C1562894 Unspecified TGFBI +OMIM:601692 skos:exactMatch UMLS:C0339278 Unspecified TGFBI +OMIM:601692 skos:exactMatch UMLS:C1690006 Unspecified TGFBI +OMIM:601692 skos:exactMatch HGNC:11771 Unspecified TGFBI +OMIM:601692 skos:exactMatch HGNC_symbol:TGFBI Unspecified TGFBI +OMIM:601692 skos:exactMatch UMLS:C1837974 Unspecified TGFBI +OMIM:601692 skos:exactMatch UMLS:C1336623 Unspecified TGFBI +OMIM:601692 skos:exactMatch UMLS:C1275685 Unspecified TGFBI +OMIM:601692 skos:exactMatch UMLS:C0521723 Unspecified TGFBI +OMIM:601692 skos:exactMatch UMLS:C1641846 Unspecified TGFBI +OMIM:601693 skos:exactMatch HGNC:12518 Unspecified UCP2 +OMIM:601693 skos:exactMatch UMLS:C1421314 Unspecified UCP2 +OMIM:601693 skos:exactMatch HGNC_symbol:UCP2 Unspecified UCP2 +OMIM:601694 skos:exactMatch UMLS:C1866431 Unspecified leptin, serum level of, quantitative trait locus 1 +OMIM:601673 skos:exactMatch UMLS:C1414372 Unspecified ELAVL2 +OMIM:601673 skos:exactMatch HGNC_symbol:ELAVL2 Unspecified ELAVL2 +OMIM:601673 skos:exactMatch HGNC:3313 Unspecified ELAVL2 +OMIM:601674 skos:exactMatch UMLS:C1414496 Unspecified EZH1 +OMIM:601674 skos:exactMatch HGNC_symbol:EZH1 Unspecified EZH1 +OMIM:601674 skos:exactMatch HGNC:3526 Unspecified EZH1 +OMIM:136840 skos:exactMatch UMLS:C1850952 Unspecified FRV1 +OMIM:601675 skos:exactMatch UMLS:C1866504 Unspecified trichothiodystrophy 1, photosensitive +OMIM:601675 skos:exactMatch UMLS:C1866505 Unspecified trichothiodystrophy 1, photosensitive +OMIM:601676 skos:exactMatch UMLS:C1866503 Unspecified acute insulin response +OMIM:601677 skos:exactMatch HGNC_symbol:NDUFA5 Unspecified NDUFA5 +OMIM:601677 skos:exactMatch HGNC:7688 Unspecified NDUFA5 +OMIM:601677 skos:exactMatch UMLS:C1417625 Unspecified NDUFA5 +OMIM:217095 skos:exactMatch UMLS:C0152419 Unspecified conotruncal heart malformations +OMIM:217095 skos:exactMatch UMLS:C0013069 Unspecified conotruncal heart malformations +OMIM:217095 skos:exactMatch UMLS:C1857586 Unspecified conotruncal heart malformations +OMIM:217095 skos:exactMatch UMLS:C0041207 Unspecified conotruncal heart malformations +OMIM:217095 skos:exactMatch UMLS:C0795907 Unspecified conotruncal heart malformations +OMIM:601678 skos:exactMatch UMLS:C1866495 Unspecified bartter syndrome, iia 1, antenatal +OMIM:601679 skos:exactMatch UMLS:C1415347 Unspecified GTF2I +OMIM:601679 skos:exactMatch HGNC_symbol:GTF2I Unspecified GTF2I +OMIM:601679 skos:exactMatch HGNC:4659 Unspecified GTF2I +OMIM:613659 skos:exactMatch UMLS:C0024623 Unspecified gastric cancer +OMIM:613659 skos:exactMatch UMLS:C3150911 Unspecified gastric cancer +OMIM:217090 skos:exactMatch UMLS:C1968804 Unspecified plasminogen deficiency, iia 1 +OMIM:217090 skos:exactMatch UMLS:C1274789 Unspecified plasminogen deficiency, iia 1 +OMIM:217090 skos:exactMatch UMLS:C4225445 Unspecified plasminogen deficiency, iia 1 +OMIM:613658 skos:exactMatch UMLS:C3150910 Unspecified rajab interstitial lung disease with brain calcifications 1 +OMIM:613658 skos:exactMatch ORPHA:178506 Unspecified rajab interstitial lung disease with brain calcifications 1 +OMIM:613658 skos:exactMatch UMLS:C5436276 Unspecified rajab interstitial lung disease with brain calcifications 1 +OMIM:613657 skos:exactMatch UMLS:C3150909 Unspecified d-2-hydroxyglutaric aciduria 2 +OMIM:613656 skos:exactMatch UMLS:C3150908 Unspecified migraine with or without aura, susceptibility to, 13 +OMIM:613655 skos:exactMatch HGNC_symbol:KCNK18 Unspecified KCNK18 +OMIM:613655 skos:exactMatch HGNC:19439 Unspecified KCNK18 +OMIM:613655 skos:exactMatch UMLS:C1537435 Unspecified KCNK18 +OMIM:613655 skos:exactMatch UMLS:C4225479 Unspecified KCNK18 +OMIM:613654 skos:exactMatch UMLS:C1537901 Unspecified MIR380 +OMIM:613654 skos:exactMatch HGNC:31873 Unspecified MIR380 +OMIM:613654 skos:exactMatch HGNC_symbol:MIR380 Unspecified MIR380 +OMIM:613653 skos:exactMatch UMLS:C2239557 Unspecified AP5Z1 +OMIM:613653 skos:exactMatch HGNC:22197 Unspecified AP5Z1 +OMIM:613653 skos:exactMatch HGNC_symbol:AP5Z1 Unspecified AP5Z1 +OMIM:613652 skos:exactMatch UMLS:C3150902 Unspecified c1q deficiency +OMIM:613662 skos:exactMatch UMLS:C3150914 Unspecified mitochondrial DNA depletion syndrome 4b (mngie type) +OMIM:611000 skos:exactMatch HGNC_symbol:EPC2 Unspecified EPC2 +OMIM:611000 skos:exactMatch UMLS:C1539360 Unspecified EPC2 +OMIM:611000 skos:exactMatch HGNC:24543 Unspecified EPC2 +OMIM:613661 skos:exactMatch UMLS:C3150913 Unspecified congenital disorder of glycosylation, iia ip +OMIM:613661 skos:exactMatch ORPHA:280071 Unspecified congenital disorder of glycosylation, iia ip +OMIM:613660 skos:exactMatch UMLS:C3552852 Unspecified cone-rod dystrophy 15 +OMIM:613660 skos:exactMatch UMLS:C3150912 Unspecified cone-rod dystrophy 15 +OMIM:148820 skos:exactMatch UMLS:C0079661 Unspecified waardenburg syndrome, iia 3 +OMIM:601680 skos:exactMatch UMLS:C1834523 Unspecified arthrogryposis, distal, iia 2b1 +OMIM:601680 skos:exactMatch UMLS:C5193014 Unspecified arthrogryposis, distal, iia 2b1 +OMIM:601681 skos:exactMatch UMLS:C1419025 Unspecified PSMC5 +OMIM:601681 skos:exactMatch HGNC_symbol:PSMC5 Unspecified PSMC5 +OMIM:601681 skos:exactMatch HGNC:9552 Unspecified PSMC5 +OMIM:601682 skos:exactMatch UMLS:C1866483 Unspecified glaucoma 1, primary open angle, c +OMIM:601683 skos:exactMatch UMLS:C1413616 Unspecified COQ7 +OMIM:601683 skos:exactMatch HGNC_symbol:COQ7 Unspecified COQ7 +OMIM:601683 skos:exactMatch HGNC:2244 Unspecified COQ7 +OMIM:136850 skos:exactMatch UMLS:C1708350 Unspecified FH +OMIM:136850 skos:exactMatch UMLS:C0342770 Unspecified FH +OMIM:136850 skos:exactMatch HGNC:3700 Unspecified FH +OMIM:136850 skos:exactMatch UMLS:C1366530 Unspecified FH +OMIM:136850 skos:exactMatch HGNC_symbol:FH Unspecified FH +OMIM:611069 skos:exactMatch HGNC_symbol:SNORD139 Unspecified None +OMIM:611069 skos:exactMatch HGNC:50421 Unspecified None +OMIM:611069 skos:exactMatch UMLS:C1970210 Unspecified None +OMIM:611067 skos:exactMatch UMLS:C1970211 Unspecified spinal muscular atrophy, distal, autosomal recessive, 4 +OMIM:611068 skos:exactMatch HGNC_symbol:SNORD43 Unspecified SNORD43 +OMIM:611068 skos:exactMatch HGNC:10182 Unspecified SNORD43 +OMIM:611068 skos:exactMatch UMLS:C1822945 Unspecified SNORD43 +OMIM:611076 skos:exactMatch UMLS:C1826481 Unspecified NT5DC3 +OMIM:611076 skos:exactMatch HGNC:30826 Unspecified NT5DC3 +OMIM:611076 skos:exactMatch HGNC_symbol:NT5DC3 Unspecified NT5DC3 +OMIM:611077 skos:exactMatch UMLS:C1428594 Unspecified CHCHD4 +OMIM:611077 skos:exactMatch HGNC_symbol:CHCHD4 Unspecified CHCHD4 +OMIM:611077 skos:exactMatch HGNC:26467 Unspecified CHCHD4 +OMIM:611074 skos:exactMatch HGNC_symbol:BSX Unspecified BSX +OMIM:611074 skos:exactMatch HGNC:20450 Unspecified BSX +OMIM:611074 skos:exactMatch UMLS:C1970208 Unspecified BSX +OMIM:611075 skos:exactMatch UMLS:C1824963 Unspecified DPH5 +OMIM:611075 skos:exactMatch HGNC_symbol:DPH5 Unspecified DPH5 +OMIM:611075 skos:exactMatch HGNC:24270 Unspecified DPH5 +OMIM:611072 skos:exactMatch UMLS:C1824962 Unspecified DNAJC24 +OMIM:611072 skos:exactMatch HGNC_symbol:DNAJC24 Unspecified DNAJC24 +OMIM:611072 skos:exactMatch HGNC:26979 Unspecified DNAJC24 +OMIM:611073 skos:exactMatch UMLS:C1970209 Unspecified alzheimer disease 12 +OMIM:611070 skos:exactMatch HGNC:17131 Unspecified SNORD83A +OMIM:611070 skos:exactMatch HGNC_symbol:SNORD83A Unspecified SNORD83A +OMIM:611070 skos:exactMatch UMLS:C1822992 Unspecified SNORD83A +OMIM:611071 skos:exactMatch HGNC:17132 Unspecified SNORD83B +OMIM:611071 skos:exactMatch HGNC_symbol:SNORD83B Unspecified SNORD83B +OMIM:611071 skos:exactMatch UMLS:C1822993 Unspecified SNORD83B +OMIM:134200 skos:exactMatch UMLS:C1851399 Unspecified facial palsy, familial recurrent peripheral +OMIM:217030 skos:exactMatch UMLS:C1442484 Unspecified CFI +OMIM:217030 skos:exactMatch HGNC:5394 Unspecified CFI +OMIM:217030 skos:exactMatch HGNC_symbol:CFI Unspecified CFI +OMIM:611058 skos:exactMatch HGNC_symbol:PEX5L Unspecified PEX5L +OMIM:611058 skos:exactMatch UMLS:C1538625 Unspecified PEX5L +OMIM:611058 skos:exactMatch HGNC:30024 Unspecified PEX5L +OMIM:611059 skos:exactMatch HGNC_symbol:WDR82 Unspecified WDR82 +OMIM:611059 skos:exactMatch UMLS:C1823375 Unspecified WDR82 +OMIM:611059 skos:exactMatch HGNC:28826 Unspecified WDR82 +OMIM:611056 skos:exactMatch HGNC:18161 Unspecified SCLY +OMIM:611056 skos:exactMatch HGNC_symbol:SCLY Unspecified SCLY +OMIM:611056 skos:exactMatch UMLS:C1425354 Unspecified SCLY +OMIM:229000 skos:exactMatch UMLS:C1416681 Unspecified KLKB1 +OMIM:229000 skos:exactMatch HGNC:6371 Unspecified KLKB1 +OMIM:229000 skos:exactMatch HGNC_symbol:KLKB1 Unspecified KLKB1 +OMIM:611065 skos:exactMatch UMLS:C1538710 Unspecified PPM1K +OMIM:611065 skos:exactMatch UMLS:C3554575 Unspecified PPM1K +OMIM:611065 skos:exactMatch HGNC_symbol:PPM1K Unspecified PPM1K +OMIM:611065 skos:exactMatch HGNC:25415 Unspecified PPM1K +OMIM:611066 skos:exactMatch UMLS:C1538639 Unspecified PHLPPL +OMIM:611066 skos:exactMatch HGNC:29149 Unspecified PHLPPL +OMIM:611066 skos:exactMatch HGNC_symbol:PHLPP2 Unspecified PHLPPL +OMIM:611063 skos:exactMatch UMLS:C1427852 Unspecified FAM20B +OMIM:611063 skos:exactMatch HGNC_symbol:FAM20B Unspecified FAM20B +OMIM:611063 skos:exactMatch HGNC:23017 Unspecified FAM20B +OMIM:611064 skos:exactMatch UMLS:C1970224 Unspecified asthma-related traits, susceptibility to, 5 +OMIM:611061 skos:exactMatch HGNC:22140 Unspecified FAM20C +OMIM:611061 skos:exactMatch UMLS:C1427755 Unspecified FAM20C +OMIM:611061 skos:exactMatch HGNC_symbol:FAM20C Unspecified FAM20C +OMIM:611062 skos:exactMatch UMLS:C1427851 Unspecified FAM20A +OMIM:611062 skos:exactMatch HGNC_symbol:FAM20A Unspecified FAM20A +OMIM:611062 skos:exactMatch HGNC:23015 Unspecified FAM20A +OMIM:611060 skos:exactMatch HGNC_symbol:SETBP1 Unspecified SETBP1 +OMIM:611060 skos:exactMatch HGNC:15573 Unspecified SETBP1 +OMIM:611060 skos:exactMatch UMLS:C3888128 Unspecified SETBP1 +OMIM:611060 skos:exactMatch UMLS:C1423585 Unspecified SETBP1 +OMIM:148840 skos:exactMatch UMLS:C0206085 Unspecified kleine-levin hibernation syndrome +OMIM:161800 skos:exactMatch UMLS:C3711389 Unspecified nemaline myopathy 3 +OMIM:161800 skos:exactMatch UMLS:C2750537 Unspecified nemaline myopathy 3 +OMIM:161800 skos:exactMatch UMLS:C2750536 Unspecified nemaline myopathy 3 +OMIM:161800 skos:exactMatch UMLS:C1834339 Unspecified nemaline myopathy 3 +OMIM:136870 skos:exactMatch UMLS:C1850940 Unspecified FRV2 +OMIM:611049 skos:exactMatch HGNC_symbol:SLC17A2 Unspecified SLC17A2 +OMIM:611049 skos:exactMatch UMLS:C1420110 Unspecified SLC17A2 +OMIM:611049 skos:exactMatch HGNC:10930 Unspecified SLC17A2 +OMIM:611047 skos:exactMatch UMLS:C1424557 Unspecified RAET1L +OMIM:611047 skos:exactMatch HGNC_symbol:RAET1L Unspecified RAET1L +OMIM:611047 skos:exactMatch HGNC:16798 Unspecified RAET1L +OMIM:611048 skos:exactMatch HGNC:14375 Unspecified PPP1R15A +OMIM:611048 skos:exactMatch UMLS:C1422599 Unspecified PPP1R15A +OMIM:611048 skos:exactMatch HGNC_symbol:PPP1R15A Unspecified PPP1R15A +OMIM:611045 skos:exactMatch HGNC_symbol:G6PC3 Unspecified G6PC3 +OMIM:611045 skos:exactMatch UMLS:C2675526 Unspecified G6PC3 +OMIM:611045 skos:exactMatch HGNC:24861 Unspecified G6PC3 +OMIM:611045 skos:exactMatch UMLS:C1428419 Unspecified G6PC3 +OMIM:611045 skos:exactMatch UMLS:C2751630 Unspecified G6PC3 +OMIM:611046 skos:exactMatch UMLS:C1970235 Unspecified mycobacterium tuberculosis, susceptibility to, 2 +OMIM:611054 skos:exactMatch UMLS:C1418785 Unspecified PPFIA1 +OMIM:611054 skos:exactMatch HGNC:9245 Unspecified PPFIA1 +OMIM:611054 skos:exactMatch HGNC_symbol:PPFIA1 Unspecified PPFIA1 +OMIM:611055 skos:exactMatch UMLS:C5436574 Unspecified SETD1B +OMIM:611055 skos:exactMatch HGNC:29187 Unspecified SETD1B +OMIM:611055 skos:exactMatch HGNC_symbol:SETD1B Unspecified SETD1B +OMIM:611055 skos:exactMatch UMLS:C1822685 Unspecified SETD1B +OMIM:611052 skos:exactMatch UMLS:C5436699 Unspecified SETD1A +OMIM:611052 skos:exactMatch HGNC:29010 Unspecified SETD1A +OMIM:611052 skos:exactMatch HGNC_symbol:SETD1A Unspecified SETD1A +OMIM:611052 skos:exactMatch UMLS:C1822684 Unspecified SETD1A +OMIM:611052 skos:exactMatch UMLS:C5394583 Unspecified SETD1A +OMIM:611052 skos:exactMatch UMLS:C5394584 Unspecified SETD1A +OMIM:611053 skos:exactMatch HGNC:23625 Unspecified RUSC2 +OMIM:611053 skos:exactMatch UMLS:C1428171 Unspecified RUSC2 +OMIM:611053 skos:exactMatch HGNC_symbol:RUSC2 Unspecified RUSC2 +OMIM:611050 skos:exactMatch HGNC:33955 Unspecified LUZP6 +OMIM:611050 skos:exactMatch UMLS:C1970234 Unspecified LUZP6 +OMIM:611050 skos:exactMatch HGNC_symbol:LUZP6 Unspecified LUZP6 +OMIM:611051 skos:exactMatch HGNC:18111 Unspecified CCDC50 +OMIM:611051 skos:exactMatch UMLS:C1824574 Unspecified CCDC50 +OMIM:611051 skos:exactMatch HGNC_symbol:CCDC50 Unspecified CCDC50 +OMIM:256600 skos:exactMatch UMLS:C0270724 Unspecified neurodegeneration with brain iron accumulation 2a +OMIM:136880 skos:exactMatch UMLS:C0311338 Unspecified fundus albipunctatus +OMIM:136880 skos:exactMatch UMLS:C1405854 Unspecified fundus albipunctatus +OMIM:217050 skos:exactMatch HGNC:1339 Unspecified C6 +OMIM:217050 skos:exactMatch UMLS:C1413014 Unspecified C6 +OMIM:217050 skos:exactMatch HGNC_symbol:C6 Unspecified C6 +OMIM:611038 skos:exactMatch UMLS:C1970237 Unspecified microphthalmia, isolated 3 +OMIM:173800 skos:exactMatch UMLS:C0032357 Unspecified poland syndrome +OMIM:173800 skos:exactMatch UMLS:C1868156 Unspecified poland syndrome +OMIM:611039 skos:exactMatch UMLS:C1425431 Unspecified SLC2A14 +OMIM:611039 skos:exactMatch HGNC:18301 Unspecified SLC2A14 +OMIM:611039 skos:exactMatch HGNC_symbol:SLC2A14 Unspecified SLC2A14 +OMIM:611036 skos:exactMatch HGNC:15956 Unspecified SLC2A13 +OMIM:611036 skos:exactMatch UMLS:C1423860 Unspecified SLC2A13 +OMIM:611036 skos:exactMatch HGNC_symbol:SLC2A13 Unspecified SLC2A13 +OMIM:613699 skos:exactMatch HGNC_symbol:GLT6D1 Unspecified GLT6D1 +OMIM:613699 skos:exactMatch UMLS:C1539575 Unspecified GLT6D1 +OMIM:613699 skos:exactMatch HGNC:23671 Unspecified GLT6D1 +OMIM:613698 skos:exactMatch HGNC_symbol:SLC25A20 Unspecified SLC25A20 +OMIM:613698 skos:exactMatch HGNC:1421 Unspecified SLC25A20 +OMIM:613698 skos:exactMatch UMLS:C1413076 Unspecified SLC25A20 +OMIM:611037 skos:exactMatch HGNC_symbol:SLC25A26 Unspecified SLC25A26 +OMIM:611037 skos:exactMatch UMLS:C4225206 Unspecified SLC25A26 +OMIM:611037 skos:exactMatch UMLS:C1427063 Unspecified SLC25A26 +OMIM:611037 skos:exactMatch HGNC:20661 Unspecified SLC25A26 +OMIM:611034 skos:exactMatch UMLS:C1420111 Unspecified SLC17A3 +OMIM:611034 skos:exactMatch HGNC_symbol:SLC17A3 Unspecified SLC17A3 +OMIM:611034 skos:exactMatch HGNC:10931 Unspecified SLC17A3 +OMIM:613697 skos:exactMatch UMLS:C3150958 Unspecified cardiomyopathy, dilated, 1v +OMIM:611035 skos:exactMatch HGNC_symbol:APLF Unspecified APLF +OMIM:611035 skos:exactMatch UMLS:C1428740 Unspecified APLF +OMIM:611035 skos:exactMatch HGNC:28724 Unspecified APLF +OMIM:613696 skos:exactMatch HGNC:14533 Unspecified UBTFL1 +OMIM:613696 skos:exactMatch UMLS:C2681098 Unspecified UBTFL1 +OMIM:613696 skos:exactMatch HGNC_symbol:UBTFL1 Unspecified UBTFL1 +OMIM:611043 skos:exactMatch UMLS:C1423887 Unspecified LIN28A +OMIM:611043 skos:exactMatch HGNC_symbol:LIN28A Unspecified LIN28A +OMIM:611043 skos:exactMatch HGNC:15986 Unspecified LIN28A +OMIM:230000 skos:exactMatch UMLS:C0016788 Unspecified fucosidosis +OMIM:611044 skos:exactMatch HGNC_symbol:LIN28B Unspecified LIN28B +OMIM:611044 skos:exactMatch UMLS:C1825819 Unspecified LIN28B +OMIM:611044 skos:exactMatch HGNC:32207 Unspecified LIN28B +OMIM:611041 skos:exactMatch HGNC:19020 Unspecified TRIM47 +OMIM:611041 skos:exactMatch HGNC_symbol:TRIM47 Unspecified TRIM47 +OMIM:611041 skos:exactMatch UMLS:C1425957 Unspecified TRIM47 +OMIM:611042 skos:exactMatch UMLS:C1825808 Unspecified LELP1 +OMIM:611042 skos:exactMatch HGNC:32046 Unspecified LELP1 +OMIM:611042 skos:exactMatch HGNC_symbol:LELP1 Unspecified LELP1 +OMIM:611040 skos:exactMatch UMLS:C1970236 Unspecified microphthalmia, isolated 5 +OMIM:146200 skos:exactMatch ORPHA:189466 Unspecified hypoparathyroidism, familial isolated, 1 +OMIM:146200 skos:exactMatch UMLS:C5241444 Unspecified hypoparathyroidism, familial isolated, 1 +OMIM:146200 skos:exactMatch ORPHA:2238 Unspecified hypoparathyroidism, familial isolated, 1 +OMIM:146200 skos:exactMatch ORPHA:2239 Unspecified hypoparathyroidism, familial isolated, 1 +OMIM:136890 skos:exactMatch UMLS:C1850939 Unspecified FRV3 +OMIM:244600 skos:exactMatch UMLS:C1855645 Unspecified keratoconus posticus circumscriptus +OMIM:244600 skos:exactMatch UMLS:C1855646 Unspecified keratoconus posticus circumscriptus +OMIM:205000 skos:exactMatch UMLS:C0002735 Unspecified amyotonia congenita +OMIM:232600 skos:exactMatch UMLS:C0017924 Unspecified glycogen storage disease 5 +OMIM:217000 skos:exactMatch UMLS:C3150275 Unspecified complement component 2 deficiency +OMIM:185800 skos:exactMatch UMLS:C3714899 Unspecified symphalangism, proximal, 1a +OMIM:611089 skos:exactMatch UMLS:C1826326 Unspecified MTMR14 +OMIM:611089 skos:exactMatch HGNC:26190 Unspecified MTMR14 +OMIM:611089 skos:exactMatch HGNC_symbol:MTMR14 Unspecified MTMR14 +OMIM:173850 skos:exactMatch HGNC_symbol:PVR Unspecified PVR +OMIM:173850 skos:exactMatch UMLS:C1419141 Unspecified PVR +OMIM:173850 skos:exactMatch HGNC:9705 Unspecified PVR +OMIM:611098 skos:exactMatch UMLS:C1823132 Unspecified STEAP4 +OMIM:611098 skos:exactMatch HGNC:21923 Unspecified STEAP4 +OMIM:611098 skos:exactMatch HGNC_symbol:STEAP4 Unspecified STEAP4 +OMIM:611099 skos:exactMatch HGNC_symbol:PDIA6 Unspecified PDIA6 +OMIM:611099 skos:exactMatch HGNC:30168 Unspecified PDIA6 +OMIM:611099 skos:exactMatch UMLS:C1538611 Unspecified PDIA6 +OMIM:611096 skos:exactMatch UMLS:C1970194 Unspecified intellectual developmental disorder, autosomal recessive 10 +OMIM:611097 skos:exactMatch UMLS:C1970193 Unspecified intellectual developmental disorder, autosomal recessive 11 +OMIM:611095 skos:exactMatch UMLS:C1970195 Unspecified intellectual developmental disorder, autosomal recessive 9 +OMIM:611092 skos:exactMatch UMLS:C1970198 Unspecified intellectual developmental disorder, autosomal recessive 6 +OMIM:611092 skos:exactMatch ORPHA:88616 Unspecified intellectual developmental disorder, autosomal recessive 6 +OMIM:611093 skos:exactMatch UMLS:C1970197 Unspecified intellectual developmental disorder, autosomal recessive 7 +OMIM:611090 skos:exactMatch UMLS:C1970200 Unspecified intellectual developmental disorder, autosomal recessive 12 +OMIM:611091 skos:exactMatch UMLS:C1970199 Unspecified intellectual developmental disorder, autosomal recessive 5 +OMIM:611078 skos:exactMatch HGNC:17134 Unspecified CBWD1 +OMIM:611078 skos:exactMatch HGNC_symbol:CBWD1 Unspecified CBWD1 +OMIM:611078 skos:exactMatch UMLS:C1424770 Unspecified CBWD1 +OMIM:611079 skos:exactMatch HGNC_symbol:CBWD2 Unspecified CBWD2 +OMIM:611079 skos:exactMatch HGNC:17907 Unspecified CBWD2 +OMIM:611079 skos:exactMatch UMLS:C1425166 Unspecified CBWD2 +OMIM:611087 skos:exactMatch UMLS:C1970203 Unspecified polyhydramnios, megalencephaly, and symptomatic epilepsy +OMIM:611088 skos:exactMatch UMLS:C1824589 Unspecified CCDC65 +OMIM:611088 skos:exactMatch UMLS:C3809701 Unspecified CCDC65 +OMIM:611088 skos:exactMatch HGNC:29937 Unspecified CCDC65 +OMIM:611088 skos:exactMatch HGNC_symbol:CCDC65 Unspecified CCDC65 +OMIM:611085 skos:exactMatch HGNC_symbol:FOXD4L4 Unspecified FOXD4L4 +OMIM:611085 skos:exactMatch UMLS:C1970204 Unspecified FOXD4L4 +OMIM:611085 skos:exactMatch HGNC:23762 Unspecified FOXD4L4 +OMIM:611086 skos:exactMatch HGNC:18523 Unspecified FOXD4L3 +OMIM:611086 skos:exactMatch HGNC_symbol:FOXD4L3 Unspecified FOXD4L3 +OMIM:611086 skos:exactMatch UMLS:C1425575 Unspecified FOXD4L3 +OMIM:611083 skos:exactMatch HGNC:16354 Unspecified ADHFE1 +OMIM:611083 skos:exactMatch UMLS:C1424212 Unspecified ADHFE1 +OMIM:611083 skos:exactMatch HGNC_symbol:ADHFE1 Unspecified ADHFE1 +OMIM:611084 skos:exactMatch HGNC_symbol:FOXD4L1 Unspecified FOXD4L1 +OMIM:611084 skos:exactMatch UMLS:C1425574 Unspecified FOXD4L1 +OMIM:611084 skos:exactMatch HGNC:18521 Unspecified FOXD4L1 +OMIM:611081 skos:exactMatch UMLS:C1970207 Unspecified inflammatory bowel disease (crohn disease) 10 +OMIM:611082 skos:exactMatch HGNC:33425 Unspecified MIAT +OMIM:611082 skos:exactMatch HGNC_symbol:MIAT Unspecified MIAT +OMIM:611082 skos:exactMatch UMLS:C1970205 Unspecified MIAT +OMIM:611080 skos:exactMatch HGNC_symbol:CBWD3 Unspecified CBWD3 +OMIM:611080 skos:exactMatch UMLS:C1539065 Unspecified CBWD3 +OMIM:611080 skos:exactMatch HGNC:18519 Unspecified CBWD3 +OMIM:185500 skos:exactMatch UMLS:C0003499 Unspecified supravalvular aortic stenosis +OMIM:161530 skos:exactMatch UMLS:C1834369 Unspecified nasal hyperpigmentation, familial transverse +OMIM:173515 skos:exactMatch HGNC:4444 Unspecified GP9 +OMIM:173515 skos:exactMatch UMLS:C1439350 Unspecified GP9 +OMIM:173515 skos:exactMatch HGNC_symbol:GP9 Unspecified GP9 +OMIM:173511 skos:exactMatch UMLS:C1415189 Unspecified GP5 +OMIM:173511 skos:exactMatch HGNC_symbol:GP5 Unspecified GP5 +OMIM:173511 skos:exactMatch HGNC:4443 Unspecified GP5 +OMIM:173510 skos:exactMatch HGNC_symbol:CD36 Unspecified CD36 +OMIM:173510 skos:exactMatch UMLS:C1366645 Unspecified CD36 +OMIM:173510 skos:exactMatch HGNC:1663 Unspecified CD36 +OMIM:136580 skos:exactMatch UMLS:C3890175 Unspecified fragile site, distamycin a type, rare, fra(16)(q22.1) +OMIM:185510 skos:exactMatch UMLS:C1861425 Unspecified S5 +OMIM:173500 skos:exactMatch UMLS:C1873499 Unspecified platelet groups--ko system +OMIM:136590 skos:exactMatch UMLS:C1850983 Unspecified fragile site 20p11 +OMIM:161555 skos:exactMatch HGNC_symbol:KLRC1 Unspecified KLRC1 +OMIM:161555 skos:exactMatch HGNC:6374 Unspecified KLRC1 +OMIM:161555 skos:exactMatch UMLS:C1416682 Unspecified KLRC1 +OMIM:161550 skos:exactMatch UMLS:C2750548 Unspecified nasopharyngeal carcinoma, susceptibility to, 2 +OMIM:207410 skos:exactMatch UMLS:C2936791 Unspecified antley-bixler syndrome without genital anomalies or disordered steroidogenesis +OMIM:185540 skos:exactMatch UMLS:C1861423 Unspecified surface antigen, glycoprotein 75 +OMIM:161565 skos:exactMatch HGNC:7833 Unspecified NKTR +OMIM:161565 skos:exactMatch UMLS:C0812448 Unspecified NKTR +OMIM:161565 skos:exactMatch HGNC_symbol:NKTR Unspecified NKTR +OMIM:161560 skos:exactMatch UMLS:C1334101 Unspecified IL12A +OMIM:161560 skos:exactMatch HGNC_symbol:IL12A Unspecified IL12A +OMIM:161560 skos:exactMatch HGNC:5969 Unspecified IL12A +OMIM:161561 skos:exactMatch UMLS:C1334102 Unspecified IL12B +OMIM:161561 skos:exactMatch HGNC_symbol:IL12B Unspecified IL12B +OMIM:161561 skos:exactMatch HGNC:5970 Unspecified IL12B +OMIM:173540 skos:exactMatch UMLS:C1868202 Unspecified platelet groups--pl(e) system +OMIM:185520 skos:exactMatch UMLS:C1861424 Unspecified S6 +OMIM:173570 skos:exactMatch HGNC_symbol:PLEK Unspecified PLEK +OMIM:173570 skos:exactMatch UMLS:C1418644 Unspecified PLEK +OMIM:173570 skos:exactMatch HGNC:9070 Unspecified PLEK +OMIM:185535 skos:exactMatch HGNC_symbol:EPCAM Unspecified EPCAM +OMIM:185535 skos:exactMatch HGNC:11529 Unspecified EPCAM +OMIM:185535 skos:exactMatch UMLS:C0812305 Unspecified EPCAM +OMIM:173560 skos:exactMatch UMLS:C1868201 Unspecified platelet membrane fluidity +OMIM:613809 skos:exactMatch UMLS:C3151138 Unspecified retinitis pigmentosa 39 +OMIM:613808 skos:exactMatch UMLS:C3151137 Unspecified ciliary dyskinesia, primary, 15 +OMIM:613807 skos:exactMatch UMLS:C3151136 Unspecified ciliary dyskinesia, primary, 14 +OMIM:613806 skos:exactMatch UMLS:C0566602 Unspecified cholangitis, primary sclerosing +OMIM:601820 skos:exactMatch ORPHA:79644 Unspecified hyperinsulinemic hypoglycemia, familial, 2 +OMIM:601820 skos:exactMatch ORPHA:276603 Unspecified hyperinsulinemic hypoglycemia, familial, 2 +OMIM:601820 skos:exactMatch ORPHA:276580 Unspecified hyperinsulinemic hypoglycemia, familial, 2 +OMIM:601820 skos:exactMatch UMLS:C2931833 Unspecified hyperinsulinemic hypoglycemia, familial, 2 +OMIM:601820 skos:exactMatch UMLS:C3888018 Unspecified hyperinsulinemic hypoglycemia, familial, 2 +OMIM:601820 skos:exactMatch UMLS:C0027773 Unspecified hyperinsulinemic hypoglycemia, familial, 2 +OMIM:613805 skos:exactMatch UMLS:C3151126 Unspecified meier-gorlin syndrome 5 +OMIM:601821 skos:exactMatch HGNC_symbol:RNY1 Unspecified RNY1 +OMIM:601821 skos:exactMatch UMLS:C1419589 Unspecified RNY1 +OMIM:601821 skos:exactMatch HGNC:10242 Unspecified RNY1 +OMIM:613804 skos:exactMatch UMLS:C3151120 Unspecified meier-gorlin syndrome 4 +OMIM:601822 skos:exactMatch UMLS:C1419590 Unspecified RNY3 +OMIM:601822 skos:exactMatch HGNC_symbol:RNY3 Unspecified RNY3 +OMIM:601822 skos:exactMatch HGNC:10243 Unspecified RNY3 +OMIM:613803 skos:exactMatch UMLS:C3151113 Unspecified meier-gorlin syndrome 3 +OMIM:601823 skos:exactMatch UMLS:C1419591 Unspecified RNY4 +OMIM:601823 skos:exactMatch HGNC_symbol:RNY4 Unspecified RNY4 +OMIM:601823 skos:exactMatch HGNC:10244 Unspecified RNY4 +OMIM:613802 skos:exactMatch HGNC_symbol:MLEC Unspecified MLEC +OMIM:613802 skos:exactMatch HGNC:28973 Unspecified MLEC +OMIM:613802 skos:exactMatch UMLS:C2681835 Unspecified MLEC +OMIM:601824 skos:exactMatch UMLS:C1419595 Unspecified RNY5 +OMIM:601824 skos:exactMatch HGNC_symbol:RNY5 Unspecified RNY5 +OMIM:601824 skos:exactMatch HGNC:10248 Unspecified RNY5 +OMIM:601825 skos:exactMatch UMLS:C1417650 Unspecified NDUFS7 +OMIM:601825 skos:exactMatch HGNC_symbol:NDUFS7 Unspecified NDUFS7 +OMIM:601825 skos:exactMatch HGNC:7714 Unspecified NDUFS7 +OMIM:613801 skos:exactMatch UMLS:C3151107 Unspecified retinitis pigmentosa 40 +OMIM:613800 skos:exactMatch UMLS:C3151097 Unspecified meier-gorlin syndrome 2 +OMIM:601826 skos:exactMatch UMLS:C1414031 Unspecified DGKD +OMIM:601826 skos:exactMatch HGNC_symbol:DGKD Unspecified DGKD +OMIM:601826 skos:exactMatch HGNC:2851 Unspecified DGKD +OMIM:601828 skos:exactMatch UMLS:C1417836 Unspecified NR4A2 +OMIM:601828 skos:exactMatch HGNC_symbol:NR4A2 Unspecified NR4A2 +OMIM:601828 skos:exactMatch HGNC:7981 Unspecified NR4A2 +OMIM:601829 skos:exactMatch UMLS:C1866168 Unspecified acrofacial dysostosis, palagonia iia +OMIM:185580 skos:exactMatch UMLS:C1861420 Unspecified S13 +OMIM:124500 skos:exactMatch ORPHA:494 Unspecified vohwinkel syndrome +OMIM:124500 skos:exactMatch UMLS:C0265964 Unspecified vohwinkel syndrome +OMIM:173590 skos:exactMatch UMLS:C1868199 Unspecified platelet signal processing defect +OMIM:601810 skos:exactMatch UMLS:C1414091 Unspecified DNA2 +OMIM:601810 skos:exactMatch HGNC:2939 Unspecified DNA2 +OMIM:601810 skos:exactMatch HGNC_symbol:DNA2 Unspecified DNA2 +OMIM:601811 skos:exactMatch UMLS:C1866183 Unspecified premature aging syndrome, okamoto iia +OMIM:601812 skos:exactMatch UMLS:C1866182 Unspecified premature aging syndrome, penttinen iia +OMIM:601813 skos:exactMatch ORPHA:891 Unspecified exudative vitreoretinopathy 4 +OMIM:601813 skos:exactMatch UMLS:C1866176 Unspecified exudative vitreoretinopathy 4 +OMIM:601814 skos:exactMatch UMLS:C1414875 Unspecified FXYD2 +OMIM:601814 skos:exactMatch HGNC_symbol:FXYD2 Unspecified FXYD2 +OMIM:601814 skos:exactMatch HGNC:4026 Unspecified FXYD2 +OMIM:185590 skos:exactMatch UMLS:C1861419 Unspecified S14 +OMIM:601815 skos:exactMatch ORPHA:79351 Unspecified phosphoglycerate dehydrogenase deficiency +OMIM:601815 skos:exactMatch UMLS:C1866174 Unspecified phosphoglycerate dehydrogenase deficiency +OMIM:601816 skos:exactMatch UMLS:C1866173 Unspecified bilirubin, serum level of, quantitative trait locus 1 +OMIM:601817 skos:exactMatch UMLS:C1417742 Unspecified NME3 +OMIM:601817 skos:exactMatch UMLS:C2986382 Unspecified NME3 +OMIM:601817 skos:exactMatch HGNC_symbol:NME3 Unspecified NME3 +OMIM:601817 skos:exactMatch HGNC:7851 Unspecified NME3 +OMIM:601818 skos:exactMatch UMLS:C1417743 Unspecified NME4 +OMIM:601818 skos:exactMatch HGNC_symbol:NME4 Unspecified NME4 +OMIM:601818 skos:exactMatch HGNC:7852 Unspecified NME4 +OMIM:601819 skos:exactMatch HGNC_symbol:BPTF Unspecified BPTF +OMIM:601819 skos:exactMatch UMLS:C1826630 Unspecified BPTF +OMIM:601819 skos:exactMatch HGNC:3581 Unspecified BPTF +OMIM:173580 skos:exactMatch UMLS:C1868200 Unspecified platelet responsiveness to adrenaline, depressed +OMIM:601800 skos:exactMatch UMLS:C2677190 Unspecified skin/hair/eye pigmentation, variation in, 3 +OMIM:601800 skos:exactMatch UMLS:C3152204 Unspecified skin/hair/eye pigmentation, variation in, 3 +OMIM:601801 skos:exactMatch UMLS:C1420333 Unspecified SP2 +OMIM:601801 skos:exactMatch HGNC_symbol:SP2 Unspecified SP2 +OMIM:601801 skos:exactMatch HGNC:11207 Unspecified SP2 +OMIM:601802 skos:exactMatch HGNC:4877 Unspecified HESX1 +OMIM:601802 skos:exactMatch UMLS:C1415521 Unspecified HESX1 +OMIM:601802 skos:exactMatch HGNC_symbol:HESX1 Unspecified HESX1 +OMIM:601803 skos:exactMatch UMLS:C0265449 Unspecified pallister-killian syndrome +OMIM:601803 skos:exactMatch UMLS:C2748628 Unspecified pallister-killian syndrome +OMIM:601804 skos:exactMatch HGNC:11208 Unspecified SP3 +OMIM:601804 skos:exactMatch UMLS:C1442756 Unspecified SP3 +OMIM:601804 skos:exactMatch UMLS:C2677189 Unspecified SP3 +OMIM:601804 skos:exactMatch HGNC_symbol:SP3 Unspecified SP3 +OMIM:601805 skos:exactMatch HGNC:4485 Unspecified GPER1 +OMIM:601805 skos:exactMatch UMLS:C1415223 Unspecified GPER1 +OMIM:601805 skos:exactMatch HGNC_symbol:GPER1 Unspecified GPER1 +OMIM:601806 skos:exactMatch UMLS:C4310829 Unspecified MCM6 +OMIM:601806 skos:exactMatch UMLS:C4310828 Unspecified MCM6 +OMIM:601806 skos:exactMatch HGNC:6949 Unspecified MCM6 +OMIM:601806 skos:exactMatch HGNC_symbol:MCM6 Unspecified MCM6 +OMIM:601806 skos:exactMatch UMLS:C1334493 Unspecified MCM6 +OMIM:185560 skos:exactMatch UMLS:C1861422 Unspecified S8 +OMIM:601807 skos:exactMatch HGNC_symbol:MMP19 Unspecified MMP19 +OMIM:601807 skos:exactMatch UMLS:C1417207 Unspecified MMP19 +OMIM:601807 skos:exactMatch HGNC:7165 Unspecified MMP19 +OMIM:112500 skos:exactMatch UMLS:C1862151 Unspecified brachydactyly, iia a1 +OMIM:601808 skos:exactMatch UMLS:C0432443 Unspecified chromosome 18q deletion syndrome +OMIM:601809 skos:exactMatch UMLS:C1866184 Unspecified spondylospinal thoracic dysostosis +OMIM:185570 skos:exactMatch UMLS:C1861421 Unspecified SA17 +OMIM:601860 skos:exactMatch HGNC:5213 Unspecified HSD17B4 +OMIM:601860 skos:exactMatch HGNC_symbol:HSD17B4 Unspecified HSD17B4 +OMIM:601860 skos:exactMatch UMLS:C1415740 Unspecified HSD17B4 +OMIM:601861 skos:exactMatch UMLS:C1419365 Unspecified RFXAP +OMIM:601861 skos:exactMatch HGNC_symbol:RFXAP Unspecified RFXAP +OMIM:601861 skos:exactMatch HGNC:9988 Unspecified RFXAP +OMIM:601861 skos:exactMatch UMLS:C1859537 Unspecified RFXAP +OMIM:601863 skos:exactMatch HGNC_symbol:RFX5 Unspecified RFX5 +OMIM:601863 skos:exactMatch UMLS:C1419363 Unspecified RFX5 +OMIM:601863 skos:exactMatch HGNC:9986 Unspecified RFX5 +OMIM:601865 skos:exactMatch HGNC_symbol:PLOD2 Unspecified PLOD2 +OMIM:601865 skos:exactMatch UMLS:C1418652 Unspecified PLOD2 +OMIM:601865 skos:exactMatch HGNC:9082 Unspecified PLOD2 +OMIM:613849 skos:exactMatch UMLS:C3151433 Unspecified osteogenesis imperfecta, iia 12 +OMIM:613848 skos:exactMatch UMLS:C3151211 Unspecified osteogenesis imperfecta, iia 10 +OMIM:601866 skos:exactMatch UMLS:C1419950 Unspecified SEMA4D +OMIM:601866 skos:exactMatch HGNC:10732 Unspecified SEMA4D +OMIM:601866 skos:exactMatch HGNC_symbol:SEMA4D Unspecified SEMA4D +OMIM:601867 skos:exactMatch UMLS:C1412633 Unspecified ATP1B3 +OMIM:601867 skos:exactMatch HGNC_symbol:ATP1B3 Unspecified ATP1B3 +OMIM:601867 skos:exactMatch HGNC:806 Unspecified ATP1B3 +OMIM:613847 skos:exactMatch HGNC:24519 Unspecified TCTN3 +OMIM:613847 skos:exactMatch UMLS:C1538392 Unspecified TCTN3 +OMIM:613847 skos:exactMatch HGNC_symbol:TCTN3 Unspecified TCTN3 +OMIM:613846 skos:exactMatch HGNC:25774 Unspecified TCTN2 +OMIM:613846 skos:exactMatch HGNC_symbol:TCTN2 Unspecified TCTN2 +OMIM:613846 skos:exactMatch UMLS:C1824359 Unspecified TCTN2 +OMIM:601868 skos:exactMatch UMLS:C1866095 Unspecified deafness, autosomal dominant 13 +OMIM:613845 skos:exactMatch UMLS:C3151209 Unspecified hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome +OMIM:613845 skos:exactMatch ORPHA:363694 Unspecified hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome +OMIM:601869 skos:exactMatch UMLS:C1866094 Unspecified deafness, autosomal recessive 15 +OMIM:613844 skos:exactMatch HGNC:12590 Unspecified UQCRH +OMIM:613844 skos:exactMatch UMLS:C3151208 Unspecified UQCRH +OMIM:613844 skos:exactMatch UMLS:C3151207 Unspecified UQCRH +OMIM:613844 skos:exactMatch UMLS:C1421373 Unspecified UQCRH +OMIM:613844 skos:exactMatch HGNC_symbol:UQCRH Unspecified UQCRH +OMIM:613843 skos:exactMatch UMLS:C3151206 Unspecified leber congenital amaurosis 15 +OMIM:613843 skos:exactMatch UMLS:C1838603 Unspecified leber congenital amaurosis 15 +OMIM:613842 skos:exactMatch HGNC:15808 Unspecified GZF1 +OMIM:613842 skos:exactMatch UMLS:C1825438 Unspecified GZF1 +OMIM:613842 skos:exactMatch HGNC_symbol:GZF1 Unspecified GZF1 +OMIM:613841 skos:exactMatch UMLS:C2681096 Unspecified UBN2 +OMIM:613841 skos:exactMatch HGNC_symbol:UBN2 Unspecified UBN2 +OMIM:613841 skos:exactMatch HGNC:21931 Unspecified UBN2 +OMIM:613840 skos:exactMatch HGNC:13505 Unspecified ZNF304 +OMIM:613840 skos:exactMatch UMLS:C1422026 Unspecified ZNF304 +OMIM:613840 skos:exactMatch HGNC_symbol:ZNF304 Unspecified ZNF304 +OMIM:601870 skos:exactMatch HGNC_symbol:METAP2 Unspecified METAP2 +OMIM:601870 skos:exactMatch HGNC:16672 Unspecified METAP2 +OMIM:601870 skos:exactMatch UMLS:C1424480 Unspecified METAP2 +OMIM:601851 skos:exactMatch UMLS:C1413503 Unspecified CLOCK +OMIM:601851 skos:exactMatch HGNC_symbol:CLOCK Unspecified CLOCK +OMIM:601851 skos:exactMatch HGNC:2082 Unspecified CLOCK +OMIM:601852 skos:exactMatch HGNC:5348 Unspecified ICAM5 +OMIM:601852 skos:exactMatch UMLS:C1415843 Unspecified ICAM5 +OMIM:601852 skos:exactMatch HGNC_symbol:ICAM5 Unspecified ICAM5 +OMIM:613839 skos:exactMatch UMLS:C3151205 Unspecified megaloblastic anemia due to dihydrofolate reductase deficiency +OMIM:601853 skos:exactMatch ORPHA:1532 Unspecified gomez-lopez-hernandez syndrome +OMIM:601853 skos:exactMatch UMLS:C0795959 Unspecified gomez-lopez-hernandez syndrome +OMIM:601854 skos:exactMatch UMLS:C1414033 Unspecified DGKG +OMIM:601854 skos:exactMatch HGNC_symbol:DGKG Unspecified DGKG +OMIM:601854 skos:exactMatch HGNC:2853 Unspecified DGKG +OMIM:613838 skos:exactMatch UMLS:C3151204 Unspecified cardiomyopathy, familial hypertrophic, 16 +OMIM:601855 skos:exactMatch HGNC_symbol:ARHGEF1 Unspecified ARHGEF1 +OMIM:601855 skos:exactMatch UMLS:C1332110 Unspecified ARHGEF1 +OMIM:601855 skos:exactMatch HGNC:681 Unspecified ARHGEF1 +OMIM:613837 skos:exactMatch UMLS:C1840284 Unspecified leber congenital amaurosis 11 +OMIM:613836 skos:exactMatch UMLS:C3151203 Unspecified adiponectin, serum level of, quantitative trait locus 5 +OMIM:601856 skos:exactMatch HGNC:13003 Unspecified ZNF211 +OMIM:601856 skos:exactMatch UMLS:C1421699 Unspecified ZNF211 +OMIM:601856 skos:exactMatch HGNC_symbol:ZNF211 Unspecified ZNF211 +OMIM:613835 skos:exactMatch UMLS:C3151202 Unspecified leber congenital amaurosis 8 +OMIM:613834 skos:exactMatch UMLS:C3151201 Unspecified multisystemic smooth muscle dysfunction syndrome +OMIM:613834 skos:exactMatch ORPHA:404463 Unspecified multisystemic smooth muscle dysfunction syndrome +OMIM:601858 skos:exactMatch UMLS:C1413483 Unspecified CLGN +OMIM:601858 skos:exactMatch HGNC_symbol:CLGN Unspecified CLGN +OMIM:601858 skos:exactMatch HGNC:2060 Unspecified CLGN +OMIM:601859 skos:exactMatch UMLS:C1328840 Unspecified autoimmune lymphoproliferative syndrome +OMIM:601859 skos:exactMatch UMLS:C1866119 Unspecified autoimmune lymphoproliferative syndrome +OMIM:601859 skos:exactMatch UMLS:C1866120 Unspecified autoimmune lymphoproliferative syndrome +OMIM:601859 skos:exactMatch UMLS:C1866121 Unspecified autoimmune lymphoproliferative syndrome +OMIM:613833 skos:exactMatch HGNC:26310 Unspecified KANSL1L +OMIM:613833 skos:exactMatch UMLS:C2240261 Unspecified KANSL1L +OMIM:613833 skos:exactMatch HGNC_symbol:KANSL1L Unspecified KANSL1L +OMIM:613831 skos:exactMatch HGNC:30467 Unspecified UBR3 +OMIM:613831 skos:exactMatch UMLS:C1538218 Unspecified UBR3 +OMIM:613831 skos:exactMatch HGNC_symbol:UBR3 Unspecified UBR3 +OMIM:613830 skos:exactMatch UMLS:C3151193 Unspecified night blindness, congenital stationary, iia 1d +OMIM:601841 skos:exactMatch HGNC:8723 Unspecified SERPINA5 +OMIM:601841 skos:exactMatch UMLS:C1418370 Unspecified SERPINA5 +OMIM:601841 skos:exactMatch HGNC_symbol:SERPINA5 Unspecified SERPINA5 +OMIM:613829 skos:exactMatch UMLS:C3151192 Unspecified leber congenital amaurosis 7 +OMIM:613828 skos:exactMatch UMLS:C3151191 Unspecified generalized epilepsy with febrile seizures plus, iia 8 +OMIM:601843 skos:exactMatch HGNC:11040 Unspecified SLC5A5 +OMIM:601843 skos:exactMatch UMLS:C1420204 Unspecified SLC5A5 +OMIM:601843 skos:exactMatch HGNC_symbol:SLC5A5 Unspecified SLC5A5 +OMIM:613827 skos:exactMatch UMLS:C3151190 Unspecified retinitis pigmentosa 48 +OMIM:613826 skos:exactMatch UMLS:C1854260 Unspecified leber congenital amaurosis 6 +OMIM:601844 skos:exactMatch HGNC:14544 Unspecified WNK4 +OMIM:601844 skos:exactMatch UMLS:C1538113 Unspecified WNK4 +OMIM:601844 skos:exactMatch HGNC_symbol:WNK4 Unspecified WNK4 +OMIM:601845 skos:exactMatch HGNC_symbol:GSC2 Unspecified GSC2 +OMIM:601845 skos:exactMatch HGNC:4613 Unspecified GSC2 +OMIM:601845 skos:exactMatch UMLS:C1415317 Unspecified GSC2 +OMIM:613825 skos:exactMatch UMLS:C3151189 Unspecified complement component 9 deficiency +OMIM:613824 skos:exactMatch UMLS:C3151188 Unspecified nephronophthisis 9 +OMIM:601846 skos:exactMatch UMLS:C1866139 Unspecified vacuolar neuromyopathy +OMIM:601847 skos:exactMatch ORPHA:172 Unspecified cholestasis, progressive familial intrahepatic, 2 +OMIM:601847 skos:exactMatch ORPHA:79304 Unspecified cholestasis, progressive familial intrahepatic, 2 +OMIM:601847 skos:exactMatch UMLS:C3489789 Unspecified cholestasis, progressive familial intrahepatic, 2 +OMIM:613823 skos:exactMatch UMLS:C3151187 Unspecified seckel syndrome 5 +OMIM:613823 skos:exactMatch ORPHA:808 Unspecified seckel syndrome 5 +OMIM:613822 skos:exactMatch UMLS:C1425429 Unspecified PPP4R2 +OMIM:613822 skos:exactMatch HGNC_symbol:PPP4R2 Unspecified PPP4R2 +OMIM:613822 skos:exactMatch HGNC:18296 Unspecified PPP4R2 +OMIM:601848 skos:exactMatch UMLS:C1427202 Unspecified TOMM20 +OMIM:601848 skos:exactMatch HGNC:20947 Unspecified TOMM20 +OMIM:601848 skos:exactMatch HGNC_symbol:TOMM20 Unspecified TOMM20 +OMIM:256370 skos:exactMatch UMLS:C3151568 Unspecified nephrotic syndrome, iia 4 +OMIM:613821 skos:exactMatch HGNC:9318 Unspecified PPP3R2 +OMIM:613821 skos:exactMatch HGNC_symbol:PPP3R2 Unspecified PPP3R2 +OMIM:613821 skos:exactMatch UMLS:C1418849 Unspecified PPP3R2 +OMIM:613820 skos:exactMatch UMLS:C3151186 Unspecified nephronophthisis 12 +OMIM:613820 skos:exactMatch UMLS:C3279203 Unspecified nephronophthisis 12 +OMIM:613819 skos:exactMatch UMLS:C3151185 Unspecified short-rib thoracic dysplasia 4 with or without polydactyly +OMIM:613818 skos:exactMatch UMLS:C3151184 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 9 +OMIM:601831 skos:exactMatch UMLS:C1415424 Unspecified HIST2H2BE +OMIM:601831 skos:exactMatch HGNC_symbol:H2BC21 Unspecified HIST2H2BE +OMIM:601831 skos:exactMatch HGNC:4760 Unspecified HIST2H2BE +OMIM:613817 skos:exactMatch HGNC_symbol:SPATS2L Unspecified SPATS2L +OMIM:613817 skos:exactMatch UMLS:C2828720 Unspecified SPATS2L +OMIM:613817 skos:exactMatch HGNC:24574 Unspecified SPATS2L +OMIM:613816 skos:exactMatch HGNC_symbol:UBR7 Unspecified UBR7 +OMIM:613816 skos:exactMatch HGNC:20344 Unspecified UBR7 +OMIM:613816 skos:exactMatch UMLS:C2681097 Unspecified UBR7 +OMIM:601832 skos:exactMatch UMLS:C1335638 Unspecified RPL29 +OMIM:601832 skos:exactMatch HGNC_symbol:RPL29 Unspecified RPL29 +OMIM:601832 skos:exactMatch HGNC:10331 Unspecified RPL29 +OMIM:613815 skos:exactMatch HGNC:2600 Unspecified CYP21A2 +OMIM:613815 skos:exactMatch UMLS:C1413861 Unspecified CYP21A2 +OMIM:613815 skos:exactMatch UMLS:C1413860 Unspecified CYP21A2 +OMIM:613815 skos:exactMatch HGNC_symbol:CYP21A2 Unspecified CYP21A2 +OMIM:601833 skos:exactMatch UMLS:C1412299 Unspecified AIF1 +OMIM:601833 skos:exactMatch HGNC_symbol:AIF1 Unspecified AIF1 +OMIM:601833 skos:exactMatch HGNC:352 Unspecified AIF1 +OMIM:601834 skos:exactMatch HGNC_symbol:CCR8 Unspecified CCR8 +OMIM:601834 skos:exactMatch HGNC:1609 Unspecified CCR8 +OMIM:601834 skos:exactMatch UMLS:C1332702 Unspecified CCR8 +OMIM:613814 skos:exactMatch HGNC:26006 Unspecified TTC19 +OMIM:613814 skos:exactMatch HGNC_symbol:TTC19 Unspecified TTC19 +OMIM:613814 skos:exactMatch UMLS:C1540115 Unspecified TTC19 +OMIM:613813 skos:exactMatch HGNC_symbol:MDM1 Unspecified MDM1 +OMIM:613813 skos:exactMatch HGNC:29917 Unspecified MDM1 +OMIM:613813 skos:exactMatch UMLS:C1537674 Unspecified MDM1 +OMIM:601835 skos:exactMatch HGNC_symbol:CCR6 Unspecified CCR6 +OMIM:601835 skos:exactMatch HGNC:1607 Unspecified CCR6 +OMIM:601835 skos:exactMatch UMLS:C1332701 Unspecified CCR6 +OMIM:601836 skos:exactMatch HGNC_symbol:KIFAP3 Unspecified KIFAP3 +OMIM:601836 skos:exactMatch UMLS:C1424717 Unspecified KIFAP3 +OMIM:601836 skos:exactMatch HGNC:17060 Unspecified KIFAP3 +OMIM:613812 skos:exactMatch UMLS:C3151147 Unspecified bile acid synthesis defect, congenital, 3 +OMIM:601837 skos:exactMatch HGNC_symbol:LIG4 Unspecified LIG4 +OMIM:601837 skos:exactMatch UMLS:C1334340 Unspecified LIG4 +OMIM:601837 skos:exactMatch HGNC:6601 Unspecified LIG4 +OMIM:613811 skos:exactMatch UMLS:C3151140 Unspecified pontocerebellar hypoplasia, iia 2d +OMIM:613810 skos:exactMatch UMLS:C3151139 Unspecified retinitis pigmentosa 43 +OMIM:601838 skos:exactMatch UMLS:C1416515 Unspecified ITPK1 +OMIM:601838 skos:exactMatch HGNC:6177 Unspecified ITPK1 +OMIM:601838 skos:exactMatch HGNC_symbol:ITPK1 Unspecified ITPK1 +OMIM:601839 skos:exactMatch HGNC:3394 Unspecified EPHB3 +OMIM:601839 skos:exactMatch UMLS:C1333341 Unspecified EPHB3 +OMIM:601839 skos:exactMatch HGNC_symbol:EPHB3 Unspecified EPHB3 +OMIM:601783 skos:exactMatch HGNC:6868 Unspecified MAP6 +OMIM:601783 skos:exactMatch UMLS:C1417022 Unspecified MAP6 +OMIM:601783 skos:exactMatch HGNC_symbol:MAP6 Unspecified MAP6 +OMIM:601784 skos:exactMatch HGNC_symbol:ASIC2 Unspecified ASIC2 +OMIM:601784 skos:exactMatch HGNC:99 Unspecified ASIC2 +OMIM:601784 skos:exactMatch UMLS:C1412114 Unspecified ASIC2 +OMIM:601785 skos:exactMatch UMLS:C0349653 Unspecified PMM2 +OMIM:601785 skos:exactMatch HGNC:9115 Unspecified PMM2 +OMIM:601785 skos:exactMatch UMLS:C1418674 Unspecified PMM2 +OMIM:601785 skos:exactMatch HGNC_symbol:PMM2 Unspecified PMM2 +OMIM:601786 skos:exactMatch HGNC_symbol:PMM1 Unspecified PMM1 +OMIM:601786 skos:exactMatch HGNC:9114 Unspecified PMM1 +OMIM:601786 skos:exactMatch UMLS:C1418673 Unspecified PMM1 +OMIM:601787 skos:exactMatch HGNC_symbol:TAF5 Unspecified TAF5 +OMIM:601787 skos:exactMatch UMLS:C1336568 Unspecified TAF5 +OMIM:601787 skos:exactMatch HGNC:11539 Unspecified TAF5 +OMIM:271980 skos:exactMatch ORPHA:22 Unspecified succinic semialdehyde dehydrogenase deficiency +OMIM:271980 skos:exactMatch UMLS:C0268631 Unspecified succinic semialdehyde dehydrogenase deficiency +OMIM:601788 skos:exactMatch HGNC_symbol:MSTN Unspecified MSTN +OMIM:601788 skos:exactMatch UMLS:C1333667 Unspecified MSTN +OMIM:601788 skos:exactMatch HGNC:4223 Unspecified MSTN +OMIM:611108 skos:exactMatch UMLS:C1823654 Unspecified VWC2 +OMIM:611108 skos:exactMatch HGNC_symbol:VWC2 Unspecified VWC2 +OMIM:611108 skos:exactMatch HGNC:30200 Unspecified VWC2 +OMIM:601789 skos:exactMatch HGNC:8855 Unspecified PEX13 +OMIM:601789 skos:exactMatch HGNC_symbol:PEX13 Unspecified PEX13 +OMIM:601789 skos:exactMatch UMLS:C1418474 Unspecified PEX13 +OMIM:611109 skos:exactMatch UMLS:C1970178 Unspecified cinnamon odor, pleasantness of +OMIM:611106 skos:exactMatch HGNC:21175 Unspecified ZC3H12D +OMIM:611106 skos:exactMatch HGNC_symbol:ZC3H12D Unspecified ZC3H12D +OMIM:611106 skos:exactMatch UMLS:C1823927 Unspecified ZC3H12D +OMIM:613769 skos:exactMatch UMLS:C3151068 Unspecified retinitis pigmentosa 44 +OMIM:613768 skos:exactMatch UMLS:C3151472 Unspecified RNF213 +OMIM:613768 skos:exactMatch UMLS:C1422738 Unspecified RNF213 +OMIM:613768 skos:exactMatch HGNC_symbol:RNF213 Unspecified RNF213 +OMIM:613768 skos:exactMatch HGNC:14539 Unspecified RNF213 +OMIM:611107 skos:exactMatch UMLS:C1970179 Unspecified intellectual developmental disorder, autosomal recessive 4 +OMIM:611104 skos:exactMatch HGNC:19125 Unspecified FGD4 +OMIM:611104 skos:exactMatch HGNC_symbol:FGD4 Unspecified FGD4 +OMIM:611104 skos:exactMatch UMLS:C1836336 Unspecified FGD4 +OMIM:611104 skos:exactMatch UMLS:C1426031 Unspecified FGD4 +OMIM:613767 skos:exactMatch UMLS:C3151066 Unspecified retinitis pigmentosa 45 +OMIM:611105 skos:exactMatch UMLS:C1970180 Unspecified leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation +OMIM:613766 skos:exactMatch UMLS:C2986382 Unspecified SCAMP5 +OMIM:613766 skos:exactMatch UMLS:C1428974 Unspecified SCAMP5 +OMIM:613766 skos:exactMatch HGNC_symbol:SCAMP5 Unspecified SCAMP5 +OMIM:613766 skos:exactMatch HGNC:30386 Unspecified SCAMP5 +OMIM:611102 skos:exactMatch UMLS:C1970187 Unspecified deafness-infertility syndrome +OMIM:613765 skos:exactMatch UMLS:C1861065 Unspecified cardiomyopathy, familial hypertrophic, 9 +OMIM:611103 skos:exactMatch HGNC_symbol:ACAD9 Unspecified ACAD9 +OMIM:611103 skos:exactMatch HGNC:21497 Unspecified ACAD9 +OMIM:611103 skos:exactMatch UMLS:C1427586 Unspecified ACAD9 +OMIM:613764 skos:exactMatch UMLS:C1428973 Unspecified SCAMP4 +OMIM:613764 skos:exactMatch HGNC_symbol:SCAMP4 Unspecified SCAMP4 +OMIM:613764 skos:exactMatch HGNC:30385 Unspecified SCAMP4 +OMIM:611100 skos:exactMatch UMLS:C1970192 Unspecified prostate cancer, hereditary, 10 +OMIM:613763 skos:exactMatch UMLS:C3808377 Unspecified cataract 16, multiple types +OMIM:613763 skos:exactMatch UMLS:C3151065 Unspecified cataract 16, multiple types +OMIM:611101 skos:exactMatch UMLS:C1826596 Unspecified PLEKHG5 +OMIM:611101 skos:exactMatch HGNC:29105 Unspecified PLEKHG5 +OMIM:611101 skos:exactMatch HGNC_symbol:PLEKHG5 Unspecified PLEKHG5 +OMIM:613762 skos:exactMatch UMLS:C3151064 Unspecified 46,xy sex reversal 6 +OMIM:613772 skos:exactMatch HGNC_symbol:KLHL14 Unspecified KLHL14 +OMIM:613772 skos:exactMatch HGNC:29266 Unspecified KLHL14 +OMIM:613772 skos:exactMatch UMLS:C1537494 Unspecified KLHL14 +OMIM:611110 skos:exactMatch HGNC:16457 Unspecified MAP3K7CL +OMIM:611110 skos:exactMatch UMLS:C1424295 Unspecified MAP3K7CL +OMIM:611110 skos:exactMatch HGNC_symbol:MAP3K7CL Unspecified MAP3K7CL +OMIM:613771 skos:exactMatch HGNC:29631 Unspecified TMEM205 +OMIM:613771 skos:exactMatch HGNC_symbol:TMEM205 Unspecified TMEM205 +OMIM:613771 skos:exactMatch UMLS:C2240110 Unspecified TMEM205 +OMIM:613770 skos:exactMatch HGNC_symbol:PLAC4 Unspecified PLAC4 +OMIM:613770 skos:exactMatch HGNC:14616 Unspecified PLAC4 +OMIM:613770 skos:exactMatch UMLS:C1422789 Unspecified PLAC4 +OMIM:601790 skos:exactMatch HGNC:9329 Unspecified PPYR1 +OMIM:601790 skos:exactMatch HGNC_symbol:NPY4R Unspecified PPYR1 +OMIM:601790 skos:exactMatch UMLS:C1418858 Unspecified PPYR1 +OMIM:601791 skos:exactMatch HGNC:8856 Unspecified PEX14 +OMIM:601791 skos:exactMatch HGNC_symbol:PEX14 Unspecified PEX14 +OMIM:601791 skos:exactMatch UMLS:C1418475 Unspecified PEX14 +OMIM:601792 skos:exactMatch HGNC:9288 Unspecified PPP1R2 +OMIM:601792 skos:exactMatch HGNC_symbol:PPP1R2 Unspecified PPP1R2 +OMIM:601792 skos:exactMatch UMLS:C1418826 Unspecified PPP1R2 +OMIM:601772 skos:exactMatch HGNC:4739 Unspecified H2AFX +OMIM:601772 skos:exactMatch HGNC_symbol:H2AX Unspecified H2AFX +OMIM:601772 skos:exactMatch UMLS:C1415406 Unspecified H2AFX +OMIM:601773 skos:exactMatch HGNC:9676 Unspecified PTPRN +OMIM:601773 skos:exactMatch UMLS:C1419119 Unspecified PTPRN +OMIM:601773 skos:exactMatch HGNC_symbol:PTPRN Unspecified PTPRN +OMIM:601774 skos:exactMatch HGNC_symbol:MGAT5 Unspecified MGAT5 +OMIM:601774 skos:exactMatch HGNC:7049 Unspecified MGAT5 +OMIM:601774 skos:exactMatch UMLS:C1417138 Unspecified MGAT5 +OMIM:601775 skos:exactMatch UMLS:C1866295 Unspecified megaloblastic anemia, folate-responsive +OMIM:601776 skos:exactMatch UMLS:C1866294 Unspecified ehlers-danlos syndrome, musculocontractural type, 1 +OMIM:601777 skos:exactMatch UMLS:C1866293 Unspecified cone-rod dystrophy 6 +OMIM:268320 skos:exactMatch UMLS:C1849332 Unspecified rodrigues blindness +OMIM:601778 skos:exactMatch UMLS:C1418751 Unspecified POLRMT +OMIM:601778 skos:exactMatch HGNC:9200 Unspecified POLRMT +OMIM:601778 skos:exactMatch HGNC_symbol:POLRMT Unspecified POLRMT +OMIM:613759 skos:exactMatch UMLS:C3151062 Unspecified immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction +OMIM:613758 skos:exactMatch UMLS:C3151061 Unspecified retinitis pigmentosa 47 +OMIM:613757 skos:exactMatch UMLS:C3151060 Unspecified macular degeneration, age-related, 6 +OMIM:613756 skos:exactMatch UMLS:C3151059 Unspecified retinitis pigmentosa 49 +OMIM:613755 skos:exactMatch HGNC_symbol:MIR326 Unspecified MIR326 +OMIM:613755 skos:exactMatch UMLS:C1537875 Unspecified MIR326 +OMIM:613755 skos:exactMatch HGNC:31769 Unspecified MIR326 +OMIM:613754 skos:exactMatch HGNC_symbol:RNF187 Unspecified RNF187 +OMIM:613754 skos:exactMatch UMLS:C1826840 Unspecified RNF187 +OMIM:613754 skos:exactMatch HGNC:27146 Unspecified RNF187 +OMIM:613753 skos:exactMatch HGNC_symbol:MIR211 Unspecified MIR211 +OMIM:613753 skos:exactMatch UMLS:C1537847 Unspecified MIR211 +OMIM:613753 skos:exactMatch HGNC:31588 Unspecified MIR211 +OMIM:613752 skos:exactMatch UMLS:C3151058 Unspecified hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency +OMIM:613751 skos:exactMatch ORPHA:450 Unspecified heterotaxy, visceral, 4, autosomal +OMIM:613751 skos:exactMatch UMLS:C3151057 Unspecified heterotaxy, visceral, 4, autosomal +OMIM:613761 skos:exactMatch UMLS:C3151063 Unspecified macular degeneration, age-related, 5 +OMIM:613760 skos:exactMatch UMLS:C1426310 Unspecified SLC36A4 +OMIM:613760 skos:exactMatch HGNC_symbol:SLC36A4 Unspecified SLC36A4 +OMIM:613760 skos:exactMatch HGNC:19660 Unspecified SLC36A4 +OMIM:601780 skos:exactMatch ORPHA:168491 Unspecified ceroid lipofuscinosis, neuronal, 6a +OMIM:601780 skos:exactMatch ORPHA:228363 Unspecified ceroid lipofuscinosis, neuronal, 6a +OMIM:601780 skos:exactMatch ORPHA:79262 Unspecified ceroid lipofuscinosis, neuronal, 6a +OMIM:601780 skos:exactMatch UMLS:C1866282 Unspecified ceroid lipofuscinosis, neuronal, 6a +OMIM:601782 skos:exactMatch UMLS:C1420688 Unspecified TESK1 +OMIM:601782 skos:exactMatch HGNC_symbol:TESK1 Unspecified TESK1 +OMIM:601782 skos:exactMatch HGNC:11731 Unspecified TESK1 +OMIM:601761 skos:exactMatch HGNC_symbol:CASP7 Unspecified CASP7 +OMIM:601761 skos:exactMatch HGNC:1508 Unspecified CASP7 +OMIM:601761 skos:exactMatch UMLS:C1332666 Unspecified CASP7 +OMIM:601762 skos:exactMatch UMLS:C1332661 Unspecified CASP10 +OMIM:601762 skos:exactMatch HGNC:1500 Unspecified CASP10 +OMIM:601762 skos:exactMatch HGNC_symbol:CASP10 Unspecified CASP10 +OMIM:601763 skos:exactMatch UMLS:C4016759 Unspecified CASP8 +OMIM:601763 skos:exactMatch UMLS:C1332667 Unspecified CASP8 +OMIM:601763 skos:exactMatch UMLS:C1969388 Unspecified CASP8 +OMIM:601763 skos:exactMatch HGNC_symbol:CASP8 Unspecified CASP8 +OMIM:601763 skos:exactMatch HGNC:1509 Unspecified CASP8 +OMIM:601763 skos:exactMatch UMLS:C1968897 Unspecified CASP8 +OMIM:601763 skos:exactMatch UMLS:C1846545 Unspecified CASP8 +OMIM:601764 skos:exactMatch UMLS:C4551769 Unspecified seizures, benign familial infantile, 1 +OMIM:271960 skos:exactMatch UMLS:C0795947 Unspecified subaortic stenosis--short stature syndrome +OMIM:601766 skos:exactMatch HGNC:4047 Unspecified FZD9 +OMIM:601766 skos:exactMatch HGNC_symbol:FZD9 Unspecified FZD9 +OMIM:601766 skos:exactMatch UMLS:C1333589 Unspecified FZD9 +OMIM:601767 skos:exactMatch HGNC_symbol:HIP1 Unspecified HIP1 +OMIM:601767 skos:exactMatch UMLS:C1868262 Unspecified HIP1 +OMIM:601767 skos:exactMatch HGNC:4913 Unspecified HIP1 +OMIM:601767 skos:exactMatch UMLS:C1415546 Unspecified HIP1 +OMIM:613749 skos:exactMatch HGNC:13499 Unspecified ZNF260 +OMIM:613749 skos:exactMatch HGNC_symbol:ZNF260 Unspecified ZNF260 +OMIM:613749 skos:exactMatch UMLS:C1823966 Unspecified ZNF260 +OMIM:268310 skos:exactMatch UMLS:C3151610 Unspecified robinow syndrome, autosomal recessive 1 +OMIM:268310 skos:exactMatch UMLS:C3151609 Unspecified robinow syndrome, autosomal recessive 1 +OMIM:268310 skos:exactMatch UMLS:C1849334 Unspecified robinow syndrome, autosomal recessive 1 +OMIM:613748 skos:exactMatch HGNC_symbol:CHCHD3 Unspecified CHCHD3 +OMIM:613748 skos:exactMatch HGNC:21906 Unspecified CHCHD3 +OMIM:613748 skos:exactMatch UMLS:C1427748 Unspecified CHCHD3 +OMIM:601768 skos:exactMatch UMLS:C1420025 Unspecified SH3GL1 +OMIM:601768 skos:exactMatch HGNC:10830 Unspecified SH3GL1 +OMIM:601768 skos:exactMatch UMLS:C1866327 Unspecified SH3GL1 +OMIM:601768 skos:exactMatch HGNC_symbol:SH3GL1 Unspecified SH3GL1 +OMIM:601769 skos:exactMatch HGNC_symbol:VDR Unspecified VDR +OMIM:601769 skos:exactMatch HGNC:12679 Unspecified VDR +OMIM:601769 skos:exactMatch UMLS:C0919430 Unspecified VDR +OMIM:613747 skos:exactMatch HGNC:19916 Unspecified KIF24 +OMIM:613747 skos:exactMatch HGNC_symbol:KIF24 Unspecified KIF24 +OMIM:613747 skos:exactMatch UMLS:C1426526 Unspecified KIF24 +OMIM:613746 skos:exactMatch UMLS:C1826416 Unspecified BCAR4 +OMIM:613746 skos:exactMatch HGNC:22170 Unspecified BCAR4 +OMIM:613746 skos:exactMatch HGNC_symbol:BCAR4 Unspecified BCAR4 +OMIM:613745 skos:exactMatch HGNC:24077 Unspecified ANAPC10 +OMIM:613745 skos:exactMatch UMLS:C1538273 Unspecified ANAPC10 +OMIM:613745 skos:exactMatch HGNC_symbol:ANAPC10 Unspecified ANAPC10 +OMIM:613744 skos:exactMatch UMLS:C3151056 Unspecified spastic paraplegia 51, autosomal recessive +OMIM:613743 skos:exactMatch UMLS:C3151055 Unspecified adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete +OMIM:268315 skos:exactMatch UMLS:C1849333 Unspecified rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction +OMIM:613742 skos:exactMatch HGNC:4056 Unspecified G6PC +OMIM:613742 skos:exactMatch UMLS:C1414892 Unspecified G6PC +OMIM:613742 skos:exactMatch HGNC_symbol:G6PC1 Unspecified G6PC +OMIM:613741 skos:exactMatch HGNC_symbol:PYGL Unspecified PYGL +OMIM:613741 skos:exactMatch HGNC:9725 Unspecified PYGL +OMIM:613741 skos:exactMatch UMLS:C1419156 Unspecified PYGL +OMIM:613750 skos:exactMatch UMLS:C1834330 Unspecified retinitis pigmentosa 27 +OMIM:613750 skos:exactMatch UMLS:C1834329 Unspecified retinitis pigmentosa 27 +OMIM:601770 skos:exactMatch UMLS:C1417819 Unspecified NPY6R +OMIM:601770 skos:exactMatch HGNC:7959 Unspecified NPY6R +OMIM:601770 skos:exactMatch HGNC_symbol:NPY6R Unspecified NPY6R +OMIM:601771 skos:exactMatch HGNC_symbol:CYP1B1 Unspecified CYP1B1 +OMIM:601771 skos:exactMatch HGNC:2597 Unspecified CYP1B1 +OMIM:601771 skos:exactMatch UMLS:C1413859 Unspecified CYP1B1 +OMIM:268300 skos:exactMatch ORPHA:3103 Unspecified roberts-sc phocomelia syndrome +OMIM:268300 skos:exactMatch UMLS:C0392475 Unspecified roberts-sc phocomelia syndrome +OMIM:601750 skos:exactMatch HGNC:4657 Unspecified GTF2H3 +OMIM:601750 skos:exactMatch UMLS:C1415345 Unspecified GTF2H3 +OMIM:601750 skos:exactMatch HGNC_symbol:GTF2H3 Unspecified GTF2H3 +OMIM:601751 skos:exactMatch HGNC:4479 Unspecified MCHR1 +OMIM:601751 skos:exactMatch UMLS:C1825952 Unspecified MCHR1 +OMIM:601751 skos:exactMatch HGNC_symbol:MCHR1 Unspecified MCHR1 +OMIM:601752 skos:exactMatch HGNC:3363 Unspecified ENTPD1 +OMIM:601752 skos:exactMatch HGNC_symbol:ENTPD1 Unspecified ENTPD1 +OMIM:601752 skos:exactMatch UMLS:C1414412 Unspecified ENTPD1 +OMIM:271950 skos:exactMatch UMLS:C1848979 Unspecified subaortic stenosis, membranous +OMIM:601753 skos:exactMatch UMLS:C1418797 Unspecified PPID +OMIM:601753 skos:exactMatch HGNC_symbol:PPID Unspecified PPID +OMIM:601753 skos:exactMatch HGNC:9257 Unspecified PPID +OMIM:601754 skos:exactMatch HGNC:12520 Unspecified UFD1L +OMIM:601754 skos:exactMatch UMLS:C1421316 Unspecified UFD1L +OMIM:601754 skos:exactMatch HGNC_symbol:UFD1 Unspecified UFD1L +OMIM:601755 skos:exactMatch UMLS:C1424569 Unspecified ESS2 +OMIM:601755 skos:exactMatch HGNC:16817 Unspecified ESS2 +OMIM:601755 skos:exactMatch HGNC_symbol:ESS2 Unspecified ESS2 +OMIM:613739 skos:exactMatch HGNC_symbol:THYN1 Unspecified THYN1 +OMIM:613739 skos:exactMatch UMLS:C1823279 Unspecified THYN1 +OMIM:613739 skos:exactMatch HGNC:29560 Unspecified THYN1 +OMIM:613738 skos:exactMatch HGNC_symbol:AGMO Unspecified AGMO +OMIM:613738 skos:exactMatch UMLS:C2240102 Unspecified AGMO +OMIM:613738 skos:exactMatch HGNC:33784 Unspecified AGMO +OMIM:601756 skos:exactMatch HGNC:4125 Unspecified GALNT3 +OMIM:601756 skos:exactMatch HGNC_symbol:GALNT3 Unspecified GALNT3 +OMIM:601756 skos:exactMatch UMLS:C1414953 Unspecified GALNT3 +OMIM:601757 skos:exactMatch HGNC_symbol:PEX7 Unspecified PEX7 +OMIM:601757 skos:exactMatch UMLS:C1418479 Unspecified PEX7 +OMIM:601757 skos:exactMatch HGNC:8860 Unspecified PEX7 +OMIM:613737 skos:exactMatch UMLS:C3151038 Unspecified acne inversa, familial, 3 +OMIM:613736 skos:exactMatch UMLS:C3151037 Unspecified acne inversa, familial, 2, with or without dowling-degos disease +OMIM:601758 skos:exactMatch HGNC:8854 Unspecified PEX12 +OMIM:601758 skos:exactMatch HGNC_symbol:PEX12 Unspecified PEX12 +OMIM:601758 skos:exactMatch UMLS:C1418473 Unspecified PEX12 +OMIM:613735 skos:exactMatch UMLS:C3151036 Unspecified brain malformations with or without urinary tract defects +OMIM:613735 skos:exactMatch UMLS:C4478940 Unspecified brain malformations with or without urinary tract defects +OMIM:601759 skos:exactMatch UMLS:C1866339 Unspecified preaxial hallucal polydactyly +OMIM:613734 skos:exactMatch UMLS:C1824644 Unspecified CCDC115 +OMIM:613734 skos:exactMatch HGNC:28178 Unspecified CCDC115 +OMIM:613734 skos:exactMatch HGNC_symbol:CCDC115 Unspecified CCDC115 +OMIM:613733 skos:exactMatch UMLS:C4017331 Unspecified MEN1 +OMIM:613733 skos:exactMatch UMLS:C4017330 Unspecified MEN1 +OMIM:613733 skos:exactMatch UMLS:C4017332 Unspecified MEN1 +OMIM:613733 skos:exactMatch UMLS:C4551961 Unspecified MEN1 +OMIM:613733 skos:exactMatch UMLS:C0025267 Unspecified MEN1 +OMIM:613733 skos:exactMatch UMLS:C4479701 Unspecified MEN1 +OMIM:613733 skos:exactMatch UMLS:C2675664 Unspecified MEN1 +OMIM:613733 skos:exactMatch UMLS:C0280089 Unspecified MEN1 +OMIM:613733 skos:exactMatch HGNC_symbol:MEN1 Unspecified MEN1 +OMIM:613733 skos:exactMatch HGNC:7010 Unspecified MEN1 +OMIM:613733 skos:exactMatch UMLS:C0694884 Unspecified MEN1 +OMIM:613731 skos:exactMatch UMLS:C3151001 Unspecified retinitis pigmentosa 4 +OMIM:268305 skos:exactMatch ORPHA:3102 Unspecified robin sequence with cleft mandible and limb anomalies +OMIM:268305 skos:exactMatch UMLS:C1849348 Unspecified robin sequence with cleft mandible and limb anomalies +OMIM:613730 skos:exactMatch UMLS:C3151000 Unspecified hemorrhagic destruction of the brain, subependymal calcification, and cataracts +OMIM:601760 skos:exactMatch HGNC:4658 Unspecified GTF2H4 +OMIM:601760 skos:exactMatch UMLS:C1415346 Unspecified GTF2H4 +OMIM:601760 skos:exactMatch HGNC_symbol:GTF2H4 Unspecified GTF2H4 +OMIM:611148 skos:exactMatch UMLS:C1426152 Unspecified SLC30A6 +OMIM:611148 skos:exactMatch HGNC_symbol:SLC30A6 Unspecified SLC30A6 +OMIM:611148 skos:exactMatch HGNC:19305 Unspecified SLC30A6 +OMIM:611149 skos:exactMatch UMLS:C1426153 Unspecified SLC30A7 +OMIM:611149 skos:exactMatch HGNC_symbol:SLC30A7 Unspecified SLC30A7 +OMIM:611149 skos:exactMatch HGNC:19306 Unspecified SLC30A7 +OMIM:611146 skos:exactMatch UMLS:C2750442 Unspecified SLC30A10 +OMIM:611146 skos:exactMatch UMLS:C1822757 Unspecified SLC30A10 +OMIM:611146 skos:exactMatch HGNC_symbol:SLC30A10 Unspecified SLC30A10 +OMIM:611146 skos:exactMatch HGNC:25355 Unspecified SLC30A10 +OMIM:611147 skos:exactMatch UMLS:C1970149 Unspecified paroxysmal nonkinesigenic dyskinesia 2 +OMIM:611144 skos:exactMatch HGNC:28975 Unspecified ABRAXAS2 +OMIM:611144 skos:exactMatch UMLS:C1970995 Unspecified ABRAXAS2 +OMIM:611144 skos:exactMatch HGNC_symbol:ABRAXAS2 Unspecified ABRAXAS2 +OMIM:611145 skos:exactMatch HGNC:20303 Unspecified SLC30A8 +OMIM:611145 skos:exactMatch UMLS:C3837967 Unspecified SLC30A8 +OMIM:611145 skos:exactMatch UMLS:C1426844 Unspecified SLC30A8 +OMIM:611145 skos:exactMatch HGNC_symbol:SLC30A8 Unspecified SLC30A8 +OMIM:611145 skos:exactMatch UMLS:C4017238 Unspecified SLC30A8 +OMIM:256300 skos:exactMatch UMLS:C0403399 Unspecified nephrotic syndrome, iia 1 +OMIM:611153 skos:exactMatch HGNC:12814 Unspecified XPA +OMIM:611153 skos:exactMatch HGNC_symbol:XPA Unspecified XPA +OMIM:611153 skos:exactMatch UMLS:C1337030 Unspecified XPA +OMIM:611154 skos:exactMatch UMLS:C1970144 Unspecified alzheimer disease 14 +OMIM:611151 skos:exactMatch UMLS:C1970148 Unspecified TRMT2A +OMIM:611151 skos:exactMatch HGNC:24974 Unspecified TRMT2A +OMIM:611151 skos:exactMatch HGNC_symbol:TRMT2A Unspecified TRMT2A +OMIM:611152 skos:exactMatch UMLS:C1970147 Unspecified alzheimer disease 13 +OMIM:611150 skos:exactMatch UMLS:C1538308 Unspecified ATXN10 +OMIM:611150 skos:exactMatch HGNC_symbol:ATXN10 Unspecified ATXN10 +OMIM:611150 skos:exactMatch HGNC:10549 Unspecified ATXN10 +OMIM:303350 skos:exactMatch UMLS:C0795953 Unspecified masa syndrome +OMIM:271930 skos:exactMatch UMLS:C0795996 Unspecified striatonigral degeneration, infantile +OMIM:611139 skos:exactMatch UMLS:C1970158 Unspecified coronary heart disease, susceptibility to, 8 +OMIM:611137 skos:exactMatch HGNC_symbol:PSMB11 Unspecified PSMB11 +OMIM:611137 skos:exactMatch UMLS:C1970159 Unspecified PSMB11 +OMIM:611137 skos:exactMatch HGNC:31963 Unspecified PSMB11 +OMIM:613799 skos:exactMatch UMLS:C1824564 Unspecified CCDC40 +OMIM:613799 skos:exactMatch HGNC:26090 Unspecified CCDC40 +OMIM:613799 skos:exactMatch HGNC_symbol:CCDC40 Unspecified CCDC40 +OMIM:611138 skos:exactMatch HGNC:16462 Unspecified STRBP +OMIM:611138 skos:exactMatch UMLS:C1424300 Unspecified STRBP +OMIM:611138 skos:exactMatch HGNC_symbol:STRBP Unspecified STRBP +OMIM:611135 skos:exactMatch UMLS:C1825715 Unspecified KLB +OMIM:611135 skos:exactMatch HGNC:15527 Unspecified KLB +OMIM:611135 skos:exactMatch HGNC_symbol:KLB Unspecified KLB +OMIM:613798 skos:exactMatch UMLS:C1824563 Unspecified CCDC39 +OMIM:613798 skos:exactMatch HGNC_symbol:CCDC39 Unspecified CCDC39 +OMIM:613798 skos:exactMatch HGNC:25244 Unspecified CCDC39 +OMIM:611136 skos:exactMatch UMLS:C4013473 Unspecified epilepsy, idiopathic generalized, susceptibility to, 13 +OMIM:611136 skos:exactMatch UMLS:C1970160 Unspecified epilepsy, idiopathic generalized, susceptibility to, 13 +OMIM:611136 skos:exactMatch UMLS:C2749942 Unspecified epilepsy, idiopathic generalized, susceptibility to, 13 +OMIM:613797 skos:exactMatch HGNC:30405 Unspecified PRSS33 +OMIM:613797 skos:exactMatch HGNC_symbol:PRSS33 Unspecified PRSS33 +OMIM:613797 skos:exactMatch UMLS:C1538729 Unspecified PRSS33 +OMIM:613796 skos:exactMatch UMLS:C3151088 Unspecified immunodeficiency 31b +OMIM:611133 skos:exactMatch UMLS:C1822991 Unspecified SNORD82 +OMIM:611133 skos:exactMatch HGNC_symbol:SNORD82 Unspecified SNORD82 +OMIM:611133 skos:exactMatch HGNC:10240 Unspecified SNORD82 +OMIM:613795 skos:exactMatch UMLS:C3151087 Unspecified loeys-dietz syndrome 3 +OMIM:611134 skos:exactMatch UMLS:C1970162 Unspecified meckel syndrome, iia 4 +OMIM:611134 skos:exactMatch UMLS:C1970161 Unspecified meckel syndrome, iia 4 +OMIM:611142 skos:exactMatch HGNC:28959 Unspecified CKAP5 +OMIM:611142 skos:exactMatch HGNC_symbol:CKAP5 Unspecified CKAP5 +OMIM:611142 skos:exactMatch UMLS:C1824740 Unspecified CKAP5 +OMIM:611143 skos:exactMatch UMLS:C1970157 Unspecified ABRAXAS1 +OMIM:611143 skos:exactMatch HGNC:25829 Unspecified ABRAXAS1 +OMIM:611143 skos:exactMatch HGNC_symbol:ABRAXAS1 Unspecified ABRAXAS1 +OMIM:611140 skos:exactMatch HGNC_symbol:TELO2 Unspecified TELO2 +OMIM:611140 skos:exactMatch HGNC:29099 Unspecified TELO2 +OMIM:611140 skos:exactMatch UMLS:C1823263 Unspecified TELO2 +OMIM:611141 skos:exactMatch HGNC:30577 Unspecified MIB2 +OMIM:611141 skos:exactMatch UMLS:C1537693 Unspecified MIB2 +OMIM:611141 skos:exactMatch HGNC_symbol:MIB2 Unspecified MIB2 +OMIM:611141 skos:exactMatch UMLS:C2986382 Unspecified MIB2 +OMIM:244300 skos:exactMatch UMLS:C0796005 Unspecified kapur-toriello syndrome +OMIM:611128 skos:exactMatch HGNC:19835 Unspecified MDGA2 +OMIM:611128 skos:exactMatch UMLS:C1426462 Unspecified MDGA2 +OMIM:611128 skos:exactMatch HGNC_symbol:MDGA2 Unspecified MDGA2 +OMIM:611129 skos:exactMatch HGNC:23510 Unspecified WBP1L +OMIM:611129 skos:exactMatch UMLS:C1428113 Unspecified WBP1L +OMIM:611129 skos:exactMatch HGNC_symbol:WBP1L Unspecified WBP1L +OMIM:611126 skos:exactMatch UMLS:C4747517 Unspecified mitochondrial complex 1 deficiency, nuclear iia 20 +OMIM:613789 skos:exactMatch UMLS:C3151080 Unspecified complement component 8 deficiency, iia 2 +OMIM:611127 skos:exactMatch HGNC:32309 Unspecified UBL4B +OMIM:611127 skos:exactMatch HGNC_symbol:UBL4B Unspecified UBL4B +OMIM:611127 skos:exactMatch UMLS:C1823580 Unspecified UBL4B +OMIM:613788 skos:exactMatch UMLS:C1537807 Unspecified MIR152 +OMIM:613788 skos:exactMatch HGNC:31538 Unspecified MIR152 +OMIM:613788 skos:exactMatch HGNC_symbol:MIR152 Unspecified MIR152 +OMIM:611124 skos:exactMatch UMLS:C1838571 Unspecified MFSD8 +OMIM:611124 skos:exactMatch HGNC:28486 Unspecified MFSD8 +OMIM:611124 skos:exactMatch UMLS:C1970174 Unspecified MFSD8 +OMIM:611124 skos:exactMatch HGNC_symbol:MFSD8 Unspecified MFSD8 +OMIM:611124 skos:exactMatch UMLS:C4015371 Unspecified MFSD8 +OMIM:613787 skos:exactMatch UMLS:C1537803 Unspecified MIR148B +OMIM:613787 skos:exactMatch HGNC:31761 Unspecified MIR148B +OMIM:613787 skos:exactMatch HGNC_symbol:MIR148B Unspecified MIR148B +OMIM:611125 skos:exactMatch UMLS:C1425342 Unspecified DSEL +OMIM:611125 skos:exactMatch HGNC_symbol:DSEL Unspecified DSEL +OMIM:611125 skos:exactMatch HGNC:18144 Unspecified DSEL +OMIM:613786 skos:exactMatch HGNC:31535 Unspecified MIR148A +OMIM:613786 skos:exactMatch HGNC_symbol:MIR148A Unspecified MIR148A +OMIM:613786 skos:exactMatch UMLS:C1537802 Unspecified MIR148A +OMIM:611122 skos:exactMatch HGNC:29024 Unspecified ANKRD28 +OMIM:611122 skos:exactMatch UMLS:C1428778 Unspecified ANKRD28 +OMIM:611122 skos:exactMatch HGNC_symbol:ANKRD28 Unspecified ANKRD28 +OMIM:613785 skos:exactMatch HGNC_symbol:C1R Unspecified C1R +OMIM:613785 skos:exactMatch HGNC:1246 Unspecified C1R +OMIM:613785 skos:exactMatch UMLS:C1412936 Unspecified C1R +OMIM:613784 skos:exactMatch UMLS:C3151079 Unspecified macular degeneration, age-related, 12 +OMIM:611123 skos:exactMatch HGNC_symbol:EPHA10 Unspecified EPHA10 +OMIM:611123 skos:exactMatch UMLS:C1539363 Unspecified EPHA10 +OMIM:611123 skos:exactMatch HGNC:19987 Unspecified EPHA10 +OMIM:613794 skos:exactMatch UMLS:C3151086 Unspecified retinitis pigmentosa 20 +OMIM:611131 skos:exactMatch UMLS:C1970163 Unspecified retinitis pigmentosa 37 +OMIM:613793 skos:exactMatch UMLS:C1292305 Unspecified blood group, cromer system +OMIM:611132 skos:exactMatch UMLS:C1428961 Unspecified RBKS +OMIM:611132 skos:exactMatch HGNC_symbol:RBKS Unspecified RBKS +OMIM:611132 skos:exactMatch HGNC:30325 Unspecified RBKS +OMIM:613792 skos:exactMatch UMLS:C0795806 Unspecified chromosome 3pter-p25 deletion syndrome +OMIM:613791 skos:exactMatch UMLS:C3151085 Unspecified masp2 deficiency +OMIM:611130 skos:exactMatch HGNC:28439 Unspecified CHMP7 +OMIM:611130 skos:exactMatch UMLS:C1538462 Unspecified CHMP7 +OMIM:611130 skos:exactMatch HGNC_symbol:CHMP7 Unspecified CHMP7 +OMIM:613790 skos:exactMatch UMLS:C3151081 Unspecified complement component 8 deficiency, iia 1 +OMIM:305990 skos:exactMatch HGNC_symbol:GLRA2 Unspecified GLRA2 +OMIM:305990 skos:exactMatch UMLS:C1415108 Unspecified GLRA2 +OMIM:305990 skos:exactMatch HGNC:4327 Unspecified GLRA2 +OMIM:601794 skos:exactMatch UMLS:C1866256 Unspecified coloboma-obesity-hypogenitalism-mental retardation syndrome +OMIM:601795 skos:exactMatch HGNC_symbol:MAPK3 Unspecified MAPK3 +OMIM:601795 skos:exactMatch UMLS:C1366765 Unspecified MAPK3 +OMIM:601795 skos:exactMatch HGNC:6877 Unspecified MAPK3 +OMIM:601796 skos:exactMatch HGNC_symbol:TAF4 Unspecified TAF4 +OMIM:601796 skos:exactMatch UMLS:C1336567 Unspecified TAF4 +OMIM:601796 skos:exactMatch HGNC:11537 Unspecified TAF4 +OMIM:601797 skos:exactMatch HGNC:356 Unspecified CRYBG1 +OMIM:601797 skos:exactMatch UMLS:C1366649 Unspecified CRYBG1 +OMIM:601797 skos:exactMatch HGNC_symbol:CRYBG1 Unspecified CRYBG1 +OMIM:601798 skos:exactMatch UMLS:C1415167 Unspecified GNPDA1 +OMIM:601798 skos:exactMatch HGNC:4417 Unspecified GNPDA1 +OMIM:601798 skos:exactMatch HGNC_symbol:GNPDA1 Unspecified GNPDA1 +OMIM:601799 skos:exactMatch HGNC_symbol:SERPINB9 Unspecified PI9 +OMIM:601799 skos:exactMatch HGNC:8955 Unspecified PI9 +OMIM:601799 skos:exactMatch UMLS:C1418556 Unspecified PI9 +OMIM:611119 skos:exactMatch UMLS:C1423635 Unspecified KLHL7 +OMIM:611119 skos:exactMatch HGNC_symbol:KLHL7 Unspecified KLHL7 +OMIM:611119 skos:exactMatch UMLS:C2751986 Unspecified KLHL7 +OMIM:611119 skos:exactMatch HGNC:15646 Unspecified KLHL7 +OMIM:611119 skos:exactMatch UMLS:C4310742 Unspecified KLHL7 +OMIM:611117 skos:exactMatch UMLS:C1826667 Unspecified PPME1 +OMIM:611117 skos:exactMatch HGNC_symbol:PPME1 Unspecified PPME1 +OMIM:611117 skos:exactMatch HGNC:30178 Unspecified PPME1 +OMIM:611118 skos:exactMatch UMLS:C1422467 Unspecified NARFL +OMIM:611118 skos:exactMatch HGNC:14179 Unspecified NARFL +OMIM:611118 skos:exactMatch HGNC_symbol:CIAO3 Unspecified NARFL +OMIM:613779 skos:exactMatch UMLS:C3151071 Unspecified complement component 3 deficiency, autosomal recessive +OMIM:611115 skos:exactMatch UMLS:C1823655 Unspecified VWCE +OMIM:611115 skos:exactMatch HGNC_symbol:VWCE Unspecified VWCE +OMIM:611115 skos:exactMatch HGNC:26487 Unspecified VWCE +OMIM:613778 skos:exactMatch UMLS:C3151070 Unspecified macular degeneration, age-related, 8 +OMIM:611116 skos:exactMatch UMLS:C1537845 Unspecified MIR208A +OMIM:611116 skos:exactMatch HGNC:31585 Unspecified MIR208A +OMIM:611116 skos:exactMatch HGNC_symbol:MIR208A Unspecified MIR208A +OMIM:613777 skos:exactMatch UMLS:C1825312 Unspecified FOXRED2 +OMIM:613777 skos:exactMatch HGNC_symbol:FOXRED2 Unspecified FOXRED2 +OMIM:613777 skos:exactMatch HGNC:26264 Unspecified FOXRED2 +OMIM:611113 skos:exactMatch UMLS:C1824698 Unspecified CEMP1 +OMIM:611113 skos:exactMatch HGNC:32553 Unspecified CEMP1 +OMIM:611113 skos:exactMatch HGNC_symbol:CEMP1 Unspecified CEMP1 +OMIM:613776 skos:exactMatch UMLS:C3151069 Unspecified chromosome 17p13.1 deletion syndrome +OMIM:611114 skos:exactMatch HGNC_symbol:MIR150 Unspecified MIR150 +OMIM:611114 skos:exactMatch UMLS:C1537805 Unspecified MIR150 +OMIM:611114 skos:exactMatch HGNC:31537 Unspecified MIR150 +OMIM:613775 skos:exactMatch HGNC:29188 Unspecified CAMSAP2 +OMIM:613775 skos:exactMatch UMLS:C1824524 Unspecified CAMSAP2 +OMIM:613775 skos:exactMatch HGNC_symbol:CAMSAP2 Unspecified CAMSAP2 +OMIM:613774 skos:exactMatch HGNC:19946 Unspecified CAMSAP1 +OMIM:613774 skos:exactMatch UMLS:C1426552 Unspecified CAMSAP1 +OMIM:613774 skos:exactMatch HGNC_symbol:CAMSAP1 Unspecified CAMSAP1 +OMIM:611111 skos:exactMatch UMLS:C1426086 Unspecified DPPA5 +OMIM:611111 skos:exactMatch HGNC_symbol:DPPA5 Unspecified DPPA5 +OMIM:611111 skos:exactMatch HGNC:19201 Unspecified DPPA5 +OMIM:613773 skos:exactMatch UMLS:C1825585 Unspecified IGSF9B +OMIM:613773 skos:exactMatch HGNC:32326 Unspecified IGSF9B +OMIM:613773 skos:exactMatch HGNC_symbol:IGSF9B Unspecified IGSF9B +OMIM:611112 skos:exactMatch HGNC_symbol:DACT3 Unspecified DACT3 +OMIM:611112 skos:exactMatch UMLS:C1824881 Unspecified DACT3 +OMIM:611112 skos:exactMatch HGNC:30745 Unspecified DACT3 +OMIM:611120 skos:exactMatch HGNC:16253 Unspecified SPTLC3 +OMIM:611120 skos:exactMatch UMLS:C1823121 Unspecified SPTLC3 +OMIM:611120 skos:exactMatch HGNC_symbol:SPTLC3 Unspecified SPTLC3 +OMIM:613783 skos:exactMatch UMLS:C3151078 Unspecified complement component c1s deficiency +OMIM:613782 skos:exactMatch HGNC_symbol:MSRB2 Unspecified MSRB2 +OMIM:613782 skos:exactMatch HGNC:17061 Unspecified MSRB2 +OMIM:613782 skos:exactMatch UMLS:C1537981 Unspecified MSRB2 +OMIM:611121 skos:exactMatch UMLS:C1426573 Unspecified CLMN +OMIM:611121 skos:exactMatch HGNC_symbol:CLMN Unspecified CLMN +OMIM:611121 skos:exactMatch HGNC:19972 Unspecified CLMN +OMIM:613781 skos:exactMatch UMLS:C1824652 Unspecified CCDC125 +OMIM:613781 skos:exactMatch HGNC_symbol:CCDC125 Unspecified CCDC125 +OMIM:613781 skos:exactMatch HGNC:28924 Unspecified CCDC125 +OMIM:613780 skos:exactMatch ORPHA:91387 Unspecified aortic aneurysm, familial thoracic 7 +OMIM:613780 skos:exactMatch UMLS:C3151077 Unspecified aortic aneurysm, familial thoracic 7 +OMIM:611188 skos:exactMatch UMLS:C1537706 Unspecified MIR9-3 +OMIM:611188 skos:exactMatch HGNC_symbol:MIR9-3 Unspecified MIR9-3 +OMIM:611188 skos:exactMatch HGNC:31646 Unspecified MIR9-3 +OMIM:611189 skos:exactMatch HGNC_symbol:MIR197 Unspecified MIR197 +OMIM:611189 skos:exactMatch UMLS:C1537833 Unspecified MIR197 +OMIM:611189 skos:exactMatch HGNC:31569 Unspecified MIR197 +OMIM:611197 skos:exactMatch HGNC:29067 Unspecified JAKMIP2 +OMIM:611197 skos:exactMatch UMLS:C1825634 Unspecified JAKMIP2 +OMIM:611197 skos:exactMatch HGNC_symbol:JAKMIP2 Unspecified JAKMIP2 +OMIM:611198 skos:exactMatch HGNC:23523 Unspecified JAKMIP3 +OMIM:611198 skos:exactMatch UMLS:C1428122 Unspecified JAKMIP3 +OMIM:611198 skos:exactMatch HGNC_symbol:JAKMIP3 Unspecified JAKMIP3 +OMIM:611195 skos:exactMatch UMLS:C1825633 Unspecified JAKMIP1 +OMIM:611195 skos:exactMatch HGNC:26460 Unspecified JAKMIP1 +OMIM:611195 skos:exactMatch HGNC_symbol:JAKMIP1 Unspecified JAKMIP1 +OMIM:611196 skos:exactMatch HGNC:22229 Unspecified ZMIZ2 +OMIM:611196 skos:exactMatch UMLS:C1823957 Unspecified ZMIZ2 +OMIM:611196 skos:exactMatch HGNC_symbol:ZMIZ2 Unspecified ZMIZ2 +OMIM:611193 skos:exactMatch UMLS:C1970019 Unspecified RRP15 +OMIM:611193 skos:exactMatch HGNC_symbol:RRP15 Unspecified RRP15 +OMIM:611193 skos:exactMatch HGNC:24255 Unspecified RRP15 +OMIM:611194 skos:exactMatch HGNC_symbol:RUFY3 Unspecified RUFY3 +OMIM:611194 skos:exactMatch UMLS:C1826955 Unspecified RUFY3 +OMIM:611194 skos:exactMatch HGNC:30285 Unspecified RUFY3 +OMIM:611191 skos:exactMatch UMLS:C1537770 Unspecified MIR125A +OMIM:611191 skos:exactMatch HGNC:31505 Unspecified MIR125A +OMIM:611191 skos:exactMatch HGNC_symbol:MIR125A Unspecified MIR125A +OMIM:611192 skos:exactMatch HGNC:21316 Unspecified ANKRD11 +OMIM:611192 skos:exactMatch UMLS:C1427487 Unspecified ANKRD11 +OMIM:611192 skos:exactMatch HGNC_symbol:ANKRD11 Unspecified ANKRD11 +OMIM:611190 skos:exactMatch UMLS:C1537886 Unspecified MIR346 +OMIM:611190 skos:exactMatch HGNC_symbol:MIR346 Unspecified MIR346 +OMIM:611190 skos:exactMatch HGNC:31780 Unspecified MIR346 +OMIM:271900 skos:exactMatch UMLS:C0206307 Unspecified canavan disease +OMIM:220300 skos:exactMatch UMLS:C1857348 Unspecified deafness, congenital, and familial myoclonic epilepsy +OMIM:136500 skos:exactMatch UMLS:C2936827 Unspecified focal facial dermal dysplasia 1, brauer iia +OMIM:611179 skos:exactMatch UMLS:C1822719 Unspecified SHROOM1 +OMIM:611179 skos:exactMatch HGNC:24084 Unspecified SHROOM1 +OMIM:611179 skos:exactMatch HGNC_symbol:SHROOM1 Unspecified SHROOM1 +OMIM:611177 skos:exactMatch UMLS:C4017239 Unspecified IFT80 +OMIM:611177 skos:exactMatch UMLS:C4017240 Unspecified IFT80 +OMIM:611177 skos:exactMatch UMLS:C1825570 Unspecified IFT80 +OMIM:611177 skos:exactMatch HGNC:29262 Unspecified IFT80 +OMIM:611177 skos:exactMatch HGNC_symbol:IFT80 Unspecified IFT80 +OMIM:611178 skos:exactMatch HGNC_symbol:GALP Unspecified GALP +OMIM:611178 skos:exactMatch HGNC:24840 Unspecified GALP +OMIM:611178 skos:exactMatch UMLS:C1970023 Unspecified GALP +OMIM:611186 skos:exactMatch UMLS:C1537704 Unspecified MIR9-1 +OMIM:611186 skos:exactMatch HGNC_symbol:MIR9-1 Unspecified MIR9-1 +OMIM:611186 skos:exactMatch HGNC:31641 Unspecified MIR9-1 +OMIM:611187 skos:exactMatch UMLS:C1537705 Unspecified MIR9-2 +OMIM:611187 skos:exactMatch HGNC_symbol:MIR9-2 Unspecified MIR9-2 +OMIM:611187 skos:exactMatch HGNC:31642 Unspecified MIR9-2 +OMIM:611184 skos:exactMatch HGNC_symbol:PIEZO1 Unspecified PIEZO1 +OMIM:611184 skos:exactMatch UMLS:C4749121 Unspecified PIEZO1 +OMIM:611184 skos:exactMatch UMLS:C0272051 Unspecified PIEZO1 +OMIM:611184 skos:exactMatch HGNC:28993 Unspecified PIEZO1 +OMIM:611184 skos:exactMatch UMLS:C4017242 Unspecified PIEZO1 +OMIM:611184 skos:exactMatch UMLS:C4017241 Unspecified PIEZO1 +OMIM:611184 skos:exactMatch UMLS:C1539428 Unspecified PIEZO1 +OMIM:611185 skos:exactMatch UMLS:C1970020 Unspecified restless legs syndrome, susceptibility to, 6 +OMIM:611182 skos:exactMatch ORPHA:95428 Unspecified congenital disorder of glycosylation, iia iih +OMIM:611182 skos:exactMatch UMLS:C1970021 Unspecified congenital disorder of glycosylation, iia iih +OMIM:611183 skos:exactMatch HGNC:23057 Unspecified BRK1 +OMIM:611183 skos:exactMatch UMLS:C1427880 Unspecified BRK1 +OMIM:611183 skos:exactMatch HGNC_symbol:BRK1 Unspecified BRK1 +OMIM:611180 skos:exactMatch HGNC_symbol:NELFB Unspecified NELFB +OMIM:611180 skos:exactMatch UMLS:C1970022 Unspecified NELFB +OMIM:611180 skos:exactMatch HGNC:24324 Unspecified NELFB +OMIM:611181 skos:exactMatch HGNC_symbol:ACAD10 Unspecified ACAD10 +OMIM:611181 skos:exactMatch HGNC:21597 Unspecified ACAD10 +OMIM:611181 skos:exactMatch UMLS:C1427635 Unspecified ACAD10 +OMIM:136510 skos:exactMatch HGNC:3824 Unspecified FPGS +OMIM:136510 skos:exactMatch HGNC_symbol:FPGS Unspecified FPGS +OMIM:136510 skos:exactMatch UMLS:C1414689 Unspecified FPGS +OMIM:611168 skos:exactMatch HGNC_symbol:DUXA Unspecified DUXA +OMIM:611168 skos:exactMatch HGNC:32179 Unspecified DUXA +OMIM:611168 skos:exactMatch UMLS:C1824994 Unspecified DUXA +OMIM:611169 skos:exactMatch UMLS:C1426973 Unspecified CATSPERB +OMIM:611169 skos:exactMatch HGNC_symbol:CATSPERB Unspecified CATSPERB +OMIM:611169 skos:exactMatch HGNC:20500 Unspecified CATSPERB +OMIM:136515 skos:exactMatch UMLS:C0812299 Unspecified FOSL1 +OMIM:136515 skos:exactMatch HGNC_symbol:FOSL1 Unspecified FOSL1 +OMIM:136515 skos:exactMatch HGNC:13718 Unspecified FOSL1 +OMIM:611166 skos:exactMatch HGNC_symbol:TPRX1 Unspecified TPRX1 +OMIM:611166 skos:exactMatch HGNC:32174 Unspecified TPRX1 +OMIM:611166 skos:exactMatch UMLS:C1823470 Unspecified TPRX1 +OMIM:611167 skos:exactMatch HGNC_symbol:TPRXL Unspecified TPRXL +OMIM:611167 skos:exactMatch HGNC:32178 Unspecified TPRXL +OMIM:611167 skos:exactMatch UMLS:C1823474 Unspecified TPRXL +OMIM:611175 skos:exactMatch UMLS:C1825430 Unspecified OLA1 +OMIM:611175 skos:exactMatch HGNC_symbol:OLA1 Unspecified OLA1 +OMIM:611175 skos:exactMatch HGNC:28833 Unspecified OLA1 +OMIM:611176 skos:exactMatch HGNC_symbol:JKAMP Unspecified JKAMP +OMIM:611176 skos:exactMatch HGNC:20184 Unspecified JKAMP +OMIM:611176 skos:exactMatch UMLS:C1426757 Unspecified JKAMP +OMIM:611173 skos:exactMatch HGNC_symbol:MIR375 Unspecified MIR375 +OMIM:611173 skos:exactMatch UMLS:C1537896 Unspecified MIR375 +OMIM:611173 skos:exactMatch HGNC:31868 Unspecified MIR375 +OMIM:611174 skos:exactMatch UMLS:C1970027 Unspecified hamamy syndrome +OMIM:611171 skos:exactMatch HGNC:29319 Unspecified SHTN1 +OMIM:611171 skos:exactMatch UMLS:C1428834 Unspecified SHTN1 +OMIM:611171 skos:exactMatch HGNC_symbol:SHTN1 Unspecified SHTN1 +OMIM:611172 skos:exactMatch UMLS:C1537745 Unspecified MIR34A +OMIM:611172 skos:exactMatch HGNC_symbol:MIR34A Unspecified MIR34A +OMIM:611172 skos:exactMatch HGNC:31635 Unspecified MIR34A +OMIM:611170 skos:exactMatch UMLS:C1327919 Unspecified SAMD9L +OMIM:611170 skos:exactMatch HGNC_symbol:SAMD9L Unspecified SAMD9L +OMIM:611170 skos:exactMatch UMLS:C1826970 Unspecified SAMD9L +OMIM:611170 skos:exactMatch UMLS:C5435704 Unspecified SAMD9L +OMIM:611170 skos:exactMatch HGNC:1349 Unspecified SAMD9L +OMIM:258900 skos:exactMatch UMLS:C3278622 Unspecified orotic aciduria +OMIM:258900 skos:exactMatch UMLS:C0268130 Unspecified orotic aciduria +OMIM:136520 skos:exactMatch UMLS:C3805604 Unspecified foveal hypoplasia 1 +OMIM:611159 skos:exactMatch HGNC:28926 Unspecified KRT78 +OMIM:611159 skos:exactMatch HGNC_symbol:KRT78 Unspecified KRT78 +OMIM:611159 skos:exactMatch UMLS:C1825766 Unspecified KRT78 +OMIM:611157 skos:exactMatch HGNC:15866 Unspecified MRGBP +OMIM:611157 skos:exactMatch UMLS:C1423788 Unspecified MRGBP +OMIM:611157 skos:exactMatch HGNC_symbol:MRGBP Unspecified MRGBP +OMIM:611158 skos:exactMatch HGNC_symbol:KRT77 Unspecified KRT77 +OMIM:611158 skos:exactMatch UMLS:C1825765 Unspecified KRT77 +OMIM:611158 skos:exactMatch HGNC:20411 Unspecified KRT77 +OMIM:611156 skos:exactMatch HGNC_symbol:ERMP1 Unspecified ERMP1 +OMIM:611156 skos:exactMatch HGNC:23703 Unspecified ERMP1 +OMIM:611156 skos:exactMatch UMLS:C1428205 Unspecified ERMP1 +OMIM:611164 skos:exactMatch UMLS:C1824195 Unspecified ARGFX +OMIM:611164 skos:exactMatch HGNC_symbol:ARGFX Unspecified ARGFX +OMIM:611164 skos:exactMatch HGNC:30146 Unspecified ARGFX +OMIM:232300 skos:exactMatch UMLS:C2931347 Unspecified glycogen storage disease 2 +OMIM:232300 skos:exactMatch UMLS:C0017921 Unspecified glycogen storage disease 2 +OMIM:232300 skos:exactMatch ORPHA:365 Unspecified glycogen storage disease 2 +OMIM:611165 skos:exactMatch HGNC_symbol:DPRX Unspecified DPRX +OMIM:611165 skos:exactMatch HGNC:32166 Unspecified DPRX +OMIM:611165 skos:exactMatch UMLS:C1824964 Unspecified DPRX +OMIM:611162 skos:exactMatch ORPHA:673 Unspecified malaria, susceptibility to +OMIM:611162 skos:exactMatch UMLS:C1970028 Unspecified malaria, susceptibility to +OMIM:611163 skos:exactMatch HGNC_symbol:TOX2 Unspecified TOX2 +OMIM:611163 skos:exactMatch UMLS:C1423976 Unspecified TOX2 +OMIM:611163 skos:exactMatch HGNC:16095 Unspecified TOX2 +OMIM:611160 skos:exactMatch HGNC_symbol:KRT79 Unspecified KRT79 +OMIM:611160 skos:exactMatch HGNC:28930 Unspecified KRT79 +OMIM:611160 skos:exactMatch UMLS:C1970031 Unspecified KRT79 +OMIM:611161 skos:exactMatch HGNC_symbol:KRT80 Unspecified KRT80 +OMIM:611161 skos:exactMatch UMLS:C1825767 Unspecified KRT80 +OMIM:611161 skos:exactMatch HGNC:27056 Unspecified KRT80 +OMIM:148500 skos:exactMatch UMLS:C1835664 Unspecified tylosis with esophageal cancer +OMIM:136533 skos:exactMatch UMLS:C1847791 Unspecified FOXO1A +OMIM:136533 skos:exactMatch HGNC_symbol:FOXO1 Unspecified FOXO1A +OMIM:136533 skos:exactMatch UMLS:C1333572 Unspecified FOXO1A +OMIM:136533 skos:exactMatch UMLS:C1850988 Unspecified FOXO1A +OMIM:136533 skos:exactMatch HGNC:3819 Unspecified FOXO1A +OMIM:136530 skos:exactMatch UMLS:C1414824 Unspecified FSHB +OMIM:136530 skos:exactMatch HGNC:3964 Unspecified FSHB +OMIM:136530 skos:exactMatch HGNC_symbol:FSHB Unspecified FSHB +OMIM:305920 skos:exactMatch UMLS:C1844440 Unspecified glutamyl ribose-5-phosphate storage disease +OMIM:136539 skos:exactMatch HGNC:3828 Unspecified FPR3 +OMIM:136539 skos:exactMatch HGNC_symbol:FPR3 Unspecified FPR3 +OMIM:136539 skos:exactMatch UMLS:C1414692 Unspecified FPR3 +OMIM:136535 skos:exactMatch UMLS:C1539521 Unspecified FMN1 +OMIM:136535 skos:exactMatch HGNC:3768 Unspecified FMN1 +OMIM:136535 skos:exactMatch HGNC_symbol:FMN1 Unspecified FMN1 +OMIM:246900 skos:exactMatch UMLS:C0268193 Unspecified dihydrolipoamide dehydrogenase deficiency +OMIM:136537 skos:exactMatch HGNC_symbol:FPR1 Unspecified FPR1 +OMIM:136537 skos:exactMatch UMLS:C5394557 Unspecified FPR1 +OMIM:136537 skos:exactMatch UMLS:C1333574 Unspecified FPR1 +OMIM:136537 skos:exactMatch HGNC:3826 Unspecified FPR1 +OMIM:136538 skos:exactMatch HGNC:3827 Unspecified FPR2 +OMIM:136538 skos:exactMatch HGNC_symbol:FPR2 Unspecified FPR2 +OMIM:136538 skos:exactMatch UMLS:C1414691 Unspecified FPR2 +OMIM:207300 skos:exactMatch UMLS:C1859761 Unspecified antithrombin, familial hemorrhagic diathesis due to +OMIM:136540 skos:exactMatch UMLS:C1850987 Unspecified fragile site 10q23 +OMIM:209970 skos:exactMatch UMLS:C1859526 Unspecified beemer lethal malformation syndrome +OMIM:148520 skos:exactMatch UMLS:C1835663 Unspecified keratosis palmaris et plantaris with clinodactyly +OMIM:219300 skos:exactMatch UMLS:C1857444 Unspecified cutis verticis gyrata and mental retardation +OMIM:305900 skos:exactMatch HGNC_symbol:G6PD Unspecified G6PD +OMIM:305900 skos:exactMatch UMLS:C1333652 Unspecified G6PD +OMIM:305900 skos:exactMatch HGNC:4057 Unspecified G6PD +OMIM:136550 skos:exactMatch UMLS:C0730294 Unspecified macular dystrophy, retinal, 1, north carolina iia +OMIM:136550 skos:exactMatch ORPHA:75327 Unspecified macular dystrophy, retinal, 1, north carolina iia +OMIM:161500 skos:exactMatch UMLS:C1834370 Unspecified nasal groove, familial transverse +OMIM:305915 skos:exactMatch HGNC:4573 Unspecified GRIA3 +OMIM:305915 skos:exactMatch HGNC_symbol:GRIA3 Unspecified GRIA3 +OMIM:305915 skos:exactMatch UMLS:C5436947 Unspecified GRIA3 +OMIM:305915 skos:exactMatch UMLS:C1333710 Unspecified GRIA3 +OMIM:611199 skos:exactMatch HGNC_symbol:DNTTIP2 Unspecified DNTTIP2 +OMIM:611199 skos:exactMatch UMLS:C1824955 Unspecified DNTTIP2 +OMIM:611199 skos:exactMatch HGNC:24013 Unspecified DNTTIP2 +OMIM:136570 skos:exactMatch UMLS:C1414725 Unspecified chromosome 16p12.1 deletion syndrome, 520-kb +OMIM:136570 skos:exactMatch UMLS:C3149276 Unspecified chromosome 16p12.1 deletion syndrome, 520-kb +OMIM:136570 skos:exactMatch UMLS:C1850985 Unspecified chromosome 16p12.1 deletion syndrome, 520-kb +OMIM:158000 skos:exactMatch UMLS:C0546966 Unspecified monilethrix +OMIM:185620 skos:exactMatch UMLS:C1420527 Unspecified SURF1 +OMIM:185620 skos:exactMatch UMLS:C5435656 Unspecified SURF1 +OMIM:185620 skos:exactMatch HGNC_symbol:SURF1 Unspecified SURF1 +OMIM:185620 skos:exactMatch HGNC:11474 Unspecified SURF1 +OMIM:185620 skos:exactMatch UMLS:C4225246 Unspecified SURF1 +OMIM:161650 skos:exactMatch UMLS:C1417656 Unspecified NEB +OMIM:161650 skos:exactMatch HGNC_symbol:NEB Unspecified NEB +OMIM:161650 skos:exactMatch HGNC:7720 Unspecified NEB +OMIM:185630 skos:exactMatch UMLS:C1420528 Unspecified SURF2 +OMIM:185630 skos:exactMatch HGNC_symbol:SURF2 Unspecified SURF2 +OMIM:185630 skos:exactMatch HGNC:11475 Unspecified SURF2 +OMIM:110050 skos:exactMatch UMLS:C0796197 Unspecified blepharonasofacial malformation syndrome +OMIM:207500 skos:exactMatch UMLS:C0003466 Unspecified anus, imperforate +OMIM:185600 skos:exactMatch UMLS:C1861418 Unspecified symphalangism of toes +OMIM:109050 skos:exactMatch UMLS:C1862380 Unspecified aurocephalosyndactyly +OMIM:173650 skos:exactMatch UMLS:C0406557 Unspecified kindler syndrome +OMIM:185605 skos:exactMatch HGNC:11509 Unspecified SYT1 +OMIM:185605 skos:exactMatch HGNC_symbol:SYT1 Unspecified SYT1 +OMIM:185605 skos:exactMatch UMLS:C1420556 Unspecified SYT1 +OMIM:158030 skos:exactMatch UMLS:C1834757 Unspecified antigen defined by monoclonal antibody aj9 +OMIM:185610 skos:exactMatch UMLS:C1861417 Unspecified surface polypeptides, anonymous +OMIM:219500 skos:exactMatch UMLS:C3495552 Unspecified cystathioninuria +OMIM:219500 skos:exactMatch ORPHA:212 Unspecified cystathioninuria +OMIM:219500 skos:exactMatch UMLS:C0220993 Unspecified cystathioninuria +OMIM:601900 skos:exactMatch HGNC:6119 Unspecified IRF4 +OMIM:601900 skos:exactMatch HGNC_symbol:IRF4 Unspecified IRF4 +OMIM:601900 skos:exactMatch UMLS:C0812314 Unspecified IRF4 +OMIM:601901 skos:exactMatch HGNC:11069 Unspecified SLC8A2 +OMIM:601901 skos:exactMatch UMLS:C1420230 Unspecified SLC8A2 +OMIM:601901 skos:exactMatch HGNC_symbol:SLC8A2 Unspecified SLC8A2 +OMIM:601902 skos:exactMatch HGNC_symbol:ORC1 Unspecified ORC1 +OMIM:601902 skos:exactMatch UMLS:C1335083 Unspecified ORC1 +OMIM:601902 skos:exactMatch HGNC:8487 Unspecified ORC1 +OMIM:601903 skos:exactMatch HGNC_symbol:UGT2B17 Unspecified UGT2B17 +OMIM:601903 skos:exactMatch HGNC:12547 Unspecified UGT2B17 +OMIM:601903 skos:exactMatch UMLS:C1421339 Unspecified UGT2B17 +OMIM:601905 skos:exactMatch UMLS:C1419222 Unspecified RABGGTA +OMIM:601905 skos:exactMatch HGNC_symbol:RABGGTA Unspecified RABGGTA +OMIM:601905 skos:exactMatch HGNC:9795 Unspecified RABGGTA +OMIM:601906 skos:exactMatch UMLS:C4310730 Unspecified WNT10B +OMIM:601906 skos:exactMatch HGNC:12775 Unspecified WNT10B +OMIM:601906 skos:exactMatch UMLS:C2749665 Unspecified WNT10B +OMIM:601906 skos:exactMatch UMLS:C1421511 Unspecified WNT10B +OMIM:601906 skos:exactMatch HGNC_symbol:WNT10B Unspecified WNT10B +OMIM:185660 skos:exactMatch HGNC_symbol:SURF4 Unspecified SURF4 +OMIM:185660 skos:exactMatch HGNC:11476 Unspecified SURF4 +OMIM:185660 skos:exactMatch UMLS:C1420529 Unspecified SURF4 +OMIM:601907 skos:exactMatch HGNC:7754 Unspecified NEO1 +OMIM:601907 skos:exactMatch UMLS:C1334874 Unspecified NEO1 +OMIM:601907 skos:exactMatch HGNC_symbol:NEO1 Unspecified NEO1 +OMIM:601908 skos:exactMatch HGNC_symbol:GPR20 Unspecified GPR20 +OMIM:601908 skos:exactMatch HGNC:4475 Unspecified GPR20 +OMIM:601908 skos:exactMatch UMLS:C1415213 Unspecified GPR20 +OMIM:122000 skos:exactMatch UMLS:C1852555 Unspecified corneal dystrophy, posterior polymorphous, 1 +OMIM:122000 skos:exactMatch UMLS:C0339284 Unspecified corneal dystrophy, posterior polymorphous, 1 +OMIM:601909 skos:exactMatch HGNC_symbol:GPR21 Unspecified GPR21 +OMIM:601909 skos:exactMatch HGNC:4476 Unspecified GPR21 +OMIM:601909 skos:exactMatch UMLS:C1415214 Unspecified GPR21 +OMIM:100690 skos:exactMatch HGNC:1955 Unspecified CHRNA1 +OMIM:100690 skos:exactMatch UMLS:C1413401 Unspecified CHRNA1 +OMIM:100690 skos:exactMatch HGNC_symbol:CHRNA1 Unspecified CHRNA1 +OMIM:158050 skos:exactMatch UMLS:C1834755 Unspecified monkey red blood cell receptor +OMIM:171000 skos:exactMatch UMLS:C0030848 Unspecified peyronie disease +OMIM:158040 skos:exactMatch UMLS:C1834756 Unspecified antigen defined by monoclonal antibody t87 +OMIM:185641 skos:exactMatch HGNC_symbol:MED22 Unspecified MED22 +OMIM:185641 skos:exactMatch HGNC:11477 Unspecified MED22 +OMIM:185641 skos:exactMatch UMLS:C1420530 Unspecified MED22 +OMIM:110000 skos:exactMatch UMLS:C1862275 Unspecified blepharochalasis, superior +OMIM:185642 skos:exactMatch UMLS:C1420531 Unspecified SURF6 +OMIM:185642 skos:exactMatch HGNC_symbol:SURF6 Unspecified SURF6 +OMIM:185642 skos:exactMatch HGNC:11478 Unspecified SURF6 +OMIM:185640 skos:exactMatch UMLS:C1335639 Unspecified RPL7A +OMIM:185640 skos:exactMatch HGNC_symbol:RPL7A Unspecified RPL7A +OMIM:185640 skos:exactMatch HGNC:10364 Unspecified RPL7A +OMIM:100670 skos:exactMatch HGNC_symbol:ALDH1B1 Unspecified ALDH1B1 +OMIM:100670 skos:exactMatch HGNC:407 Unspecified ALDH1B1 +OMIM:100670 skos:exactMatch UMLS:C1412338 Unspecified ALDH1B1 +OMIM:158070 skos:exactMatch HGNC:11026 Unspecified SLC3A2 +OMIM:158070 skos:exactMatch UMLS:C1420192 Unspecified SLC3A2 +OMIM:158070 skos:exactMatch HGNC_symbol:SLC3A2 Unspecified SLC3A2 +OMIM:100678 skos:exactMatch HGNC_symbol:ACAT2 Unspecified ACAT2 +OMIM:100678 skos:exactMatch HGNC:94 Unspecified ACAT2 +OMIM:100678 skos:exactMatch UMLS:C1412112 Unspecified ACAT2 +OMIM:100675 skos:exactMatch UMLS:C1863486 Unspecified acetaminophen metabolism +OMIM:185650 skos:exactMatch UMLS:C1861404 Unspecified symphalangism, c. s. lewis iia +OMIM:613929 skos:exactMatch HGNC:16646 Unspecified SPINK4 +OMIM:613929 skos:exactMatch HGNC_symbol:SPINK4 Unspecified SPINK4 +OMIM:613929 skos:exactMatch UMLS:C1424462 Unspecified SPINK4 +OMIM:613928 skos:exactMatch HGNC:21666 Unspecified MUCL3 +OMIM:613928 skos:exactMatch UMLS:C1427687 Unspecified MUCL3 +OMIM:613928 skos:exactMatch HGNC_symbol:MUCL3 Unspecified MUCL3 +OMIM:601940 skos:exactMatch HGNC:10786 Unspecified SRSF4 +OMIM:601940 skos:exactMatch UMLS:C1419995 Unspecified SRSF4 +OMIM:601940 skos:exactMatch HGNC_symbol:SRSF4 Unspecified SRSF4 +OMIM:601941 skos:exactMatch UMLS:C1866041 Unspecified iia 1 diabetes mellitus 6 +OMIM:601941 skos:exactMatch UMLS:C2748621 Unspecified iia 1 diabetes mellitus 6 +OMIM:613927 skos:exactMatch HGNC:1248 Unspecified C2 +OMIM:613927 skos:exactMatch HGNC_symbol:C2 Unspecified C2 +OMIM:613927 skos:exactMatch UMLS:C1412938 Unspecified C2 +OMIM:613926 skos:exactMatch UMLS:C3151356 Unspecified megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation +OMIM:601942 skos:exactMatch UMLS:C1866040 Unspecified iia 1 diabetes mellitus 10 +OMIM:613925 skos:exactMatch UMLS:C3151355 Unspecified megalencephalic leukoencephalopathy with subcortical cysts 2a +OMIM:601943 skos:exactMatch UMLS:C1420000 Unspecified SRSF9 +OMIM:601943 skos:exactMatch HGNC:10791 Unspecified SRSF9 +OMIM:601943 skos:exactMatch HGNC_symbol:SRSF9 Unspecified SRSF9 +OMIM:613924 skos:exactMatch HGNC:23452 Unspecified LIPN +OMIM:613924 skos:exactMatch UMLS:C1537579 Unspecified LIPN +OMIM:613924 skos:exactMatch HGNC_symbol:LIPN Unspecified LIPN +OMIM:601944 skos:exactMatch HGNC_symbol:SRSF6 Unspecified SRSF6 +OMIM:601944 skos:exactMatch HGNC:10788 Unspecified SRSF6 +OMIM:601944 skos:exactMatch UMLS:C1419997 Unspecified SRSF6 +OMIM:613923 skos:exactMatch HGNC:23455 Unspecified LIPM +OMIM:613923 skos:exactMatch UMLS:C1537578 Unspecified LIPM +OMIM:613923 skos:exactMatch HGNC_symbol:LIPM Unspecified LIPM +OMIM:601945 skos:exactMatch HGNC:10790 Unspecified SFSWAP +OMIM:601945 skos:exactMatch HGNC_symbol:SFSWAP Unspecified SFSWAP +OMIM:601945 skos:exactMatch UMLS:C1419999 Unspecified SFSWAP +OMIM:613922 skos:exactMatch HGNC:23444 Unspecified LIPK +OMIM:613922 skos:exactMatch UMLS:C1537577 Unspecified LIPK +OMIM:613922 skos:exactMatch HGNC_symbol:LIPK Unspecified LIPK +OMIM:613921 skos:exactMatch UMLS:C1537576 Unspecified LIPJ +OMIM:613921 skos:exactMatch HGNC:21773 Unspecified LIPJ +OMIM:613921 skos:exactMatch HGNC_symbol:LIPJ Unspecified LIPJ +OMIM:601947 skos:exactMatch UMLS:C1420325 Unspecified SOX12 +OMIM:601947 skos:exactMatch HGNC_symbol:SOX12 Unspecified SOX12 +OMIM:601947 skos:exactMatch HGNC:11198 Unspecified SOX12 +OMIM:613920 skos:exactMatch UMLS:C2240258 Unspecified COA5 +OMIM:613920 skos:exactMatch HGNC:33848 Unspecified COA5 +OMIM:613920 skos:exactMatch HGNC_symbol:COA5 Unspecified COA5 +OMIM:613920 skos:exactMatch UMLS:C4225154 Unspecified COA5 +OMIM:601949 skos:exactMatch HGNC:1404 Unspecified CACNB4 +OMIM:601949 skos:exactMatch HGNC_symbol:CACNB4 Unspecified CACNB4 +OMIM:601949 skos:exactMatch UMLS:C1413070 Unspecified CACNB4 +OMIM:100650 skos:exactMatch HGNC_symbol:ALDH2 Unspecified ALDH2 +OMIM:100650 skos:exactMatch HGNC:404 Unspecified ALDH2 +OMIM:100650 skos:exactMatch UMLS:C1863487 Unspecified ALDH2 +OMIM:100650 skos:exactMatch UMLS:C1412335 Unspecified ALDH2 +OMIM:100650 skos:exactMatch UMLS:C3149226 Unspecified ALDH2 +OMIM:100650 skos:exactMatch UMLS:C2676227 Unspecified ALDH2 +OMIM:171050 skos:exactMatch UMLS:C1861502 Unspecified ABCB1 +OMIM:171050 skos:exactMatch HGNC_symbol:ABCB1 Unspecified ABCB1 +OMIM:171050 skos:exactMatch HGNC:40 Unspecified ABCB1 +OMIM:171050 skos:exactMatch UMLS:C0376622 Unspecified ABCB1 +OMIM:171050 skos:exactMatch UMLS:C4016315 Unspecified ABCB1 +OMIM:171050 skos:exactMatch UMLS:C4016316 Unspecified ABCB1 +OMIM:109000 skos:exactMatch UMLS:C1862381 Unspecified auriculoosteodysplasia +OMIM:613919 skos:exactMatch HGNC:21202 Unspecified KIF6 +OMIM:613919 skos:exactMatch UMLS:C1427410 Unspecified KIF6 +OMIM:613919 skos:exactMatch HGNC_symbol:KIF6 Unspecified KIF6 +OMIM:613918 skos:exactMatch UMLS:C1539644 Unspecified HCG22 +OMIM:613918 skos:exactMatch HGNC_symbol:HCG22 Unspecified HCG22 +OMIM:613918 skos:exactMatch HGNC:27780 Unspecified HCG22 +OMIM:613917 skos:exactMatch UMLS:C3151352 Unspecified MUC22 +OMIM:613917 skos:exactMatch HGNC_symbol:MUC22 Unspecified MUC22 +OMIM:613917 skos:exactMatch HGNC:39755 Unspecified MUC22 +OMIM:601930 skos:exactMatch UMLS:C1538957 Unspecified BNC1 +OMIM:601930 skos:exactMatch HGNC:1081 Unspecified BNC1 +OMIM:601930 skos:exactMatch HGNC_symbol:BNC1 Unspecified BNC1 +OMIM:601930 skos:exactMatch UMLS:C5231474 Unspecified BNC1 +OMIM:613916 skos:exactMatch UMLS:C3151351 Unspecified deafness, autosomal recessive 89 +OMIM:601931 skos:exactMatch HGNC:995 Unspecified BCL2L2 +OMIM:601931 skos:exactMatch HGNC_symbol:BCL2L2 Unspecified BCL2L2 +OMIM:601931 skos:exactMatch UMLS:C1332398 Unspecified BCL2L2 +OMIM:613915 skos:exactMatch HGNC_symbol:ZBTB42 Unspecified None +OMIM:613915 skos:exactMatch HGNC:32550 Unspecified None +OMIM:613915 skos:exactMatch UMLS:C1823908 Unspecified None +OMIM:613914 skos:exactMatch UMLS:C1824032 Unspecified ZNF746 +OMIM:613914 skos:exactMatch HGNC_symbol:ZNF746 Unspecified ZNF746 +OMIM:613914 skos:exactMatch HGNC:21948 Unspecified ZNF746 +OMIM:601932 skos:exactMatch UMLS:C1417501 Unspecified MUC8 +OMIM:601932 skos:exactMatch HGNC_symbol:MUC8 Unspecified MUC8 +OMIM:601932 skos:exactMatch HGNC:7519 Unspecified MUC8 +OMIM:613913 skos:exactMatch UMLS:C3151347 Unspecified lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis +OMIM:601933 skos:exactMatch HGNC:2384 Unspecified CRY1 +OMIM:601933 skos:exactMatch UMLS:C1413724 Unspecified CRY1 +OMIM:601933 skos:exactMatch HGNC_symbol:CRY1 Unspecified CRY1 +OMIM:601934 skos:exactMatch HGNC:4549 Unspecified GPS1 +OMIM:601934 skos:exactMatch HGNC_symbol:GPS1 Unspecified GPS1 +OMIM:601934 skos:exactMatch UMLS:C1333702 Unspecified GPS1 +OMIM:613912 skos:exactMatch UMLS:C0398764 Unspecified complement factor d deficiency +OMIM:601935 skos:exactMatch HGNC:4550 Unspecified GPS2 +OMIM:601935 skos:exactMatch HGNC_symbol:GPS2 Unspecified GPS2 +OMIM:601935 skos:exactMatch UMLS:C1333703 Unspecified GPS2 +OMIM:613911 skos:exactMatch HGNC:23713 Unspecified ZNF496 +OMIM:613911 skos:exactMatch UMLS:C1428215 Unspecified ZNF496 +OMIM:613911 skos:exactMatch HGNC_symbol:ZNF496 Unspecified ZNF496 +OMIM:601936 skos:exactMatch UMLS:C1335191 Unspecified PAWR +OMIM:601936 skos:exactMatch HGNC:8614 Unspecified PAWR +OMIM:601936 skos:exactMatch HGNC_symbol:PAWR Unspecified PAWR +OMIM:613910 skos:exactMatch HGNC:23305 Unspecified ZNF480 +OMIM:613910 skos:exactMatch HGNC_symbol:ZNF480 Unspecified ZNF480 +OMIM:613910 skos:exactMatch UMLS:C1538189 Unspecified ZNF480 +OMIM:601937 skos:exactMatch HGNC_symbol:NCOA3 Unspecified NCOA3 +OMIM:601937 skos:exactMatch HGNC:7670 Unspecified NCOA3 +OMIM:601937 skos:exactMatch UMLS:C1334868 Unspecified NCOA3 +OMIM:601939 skos:exactMatch HGNC:11305 Unspecified SRPK1 +OMIM:601939 skos:exactMatch HGNC_symbol:SRPK1 Unspecified SRPK1 +OMIM:601939 skos:exactMatch UMLS:C1420412 Unspecified SRPK1 +OMIM:183050 skos:exactMatch UMLS:C1866770 Unspecified spinocerebellar ataxia with rigidity and peripheral neuropathy +OMIM:100660 skos:exactMatch HGNC_symbol:ALDH3A1 Unspecified ALDH3A1 +OMIM:100660 skos:exactMatch HGNC:405 Unspecified ALDH3A1 +OMIM:100660 skos:exactMatch UMLS:C1412336 Unspecified ALDH3A1 +OMIM:613909 skos:exactMatch UMLS:C3151343 Unspecified spinocerebellar ataxia 32 +OMIM:613908 skos:exactMatch UMLS:C3888031 Unspecified spinocerebellar ataxia 35 +OMIM:613907 skos:exactMatch UMLS:C1538220 Unspecified ZNF652 +OMIM:613907 skos:exactMatch HGNC:29147 Unspecified ZNF652 +OMIM:613907 skos:exactMatch HGNC_symbol:ZNF652 Unspecified ZNF652 +OMIM:613906 skos:exactMatch HGNC:31834 Unspecified ZNF641 +OMIM:613906 skos:exactMatch HGNC_symbol:ZNF641 Unspecified ZNF641 +OMIM:613906 skos:exactMatch UMLS:C1823984 Unspecified ZNF641 +OMIM:613905 skos:exactMatch HGNC:25879 Unspecified ZNF606 +OMIM:613905 skos:exactMatch HGNC_symbol:ZNF606 Unspecified ZNF606 +OMIM:613905 skos:exactMatch UMLS:C1428528 Unspecified ZNF606 +OMIM:601920 skos:exactMatch UMLS:C1416525 Unspecified JAG1 +OMIM:601920 skos:exactMatch HGNC_symbol:JAG1 Unspecified JAG1 +OMIM:601920 skos:exactMatch HGNC:6188 Unspecified JAG1 +OMIM:613904 skos:exactMatch HGNC:24737 Unspecified ZNF569 +OMIM:613904 skos:exactMatch HGNC_symbol:ZNF569 Unspecified ZNF569 +OMIM:613904 skos:exactMatch UMLS:C1428407 Unspecified ZNF569 +OMIM:613903 skos:exactMatch HGNC:25331 Unspecified ZNF540 +OMIM:613903 skos:exactMatch HGNC_symbol:ZNF540 Unspecified ZNF540 +OMIM:613903 skos:exactMatch UMLS:C1428473 Unspecified ZNF540 +OMIM:601922 skos:exactMatch HGNC_symbol:ANGPT2 Unspecified ANGPT2 +OMIM:601922 skos:exactMatch HGNC:485 Unspecified ANGPT2 +OMIM:601922 skos:exactMatch UMLS:C1332089 Unspecified ANGPT2 +OMIM:613902 skos:exactMatch HGNC:23589 Unspecified ZNF503 +OMIM:613902 skos:exactMatch UMLS:C1428140 Unspecified ZNF503 +OMIM:613902 skos:exactMatch HGNC_symbol:ZNF503 Unspecified ZNF503 +OMIM:613901 skos:exactMatch HGNC:26935 Unspecified RTCB +OMIM:613901 skos:exactMatch HGNC_symbol:RTCB Unspecified RTCB +OMIM:613901 skos:exactMatch UMLS:C1824509 Unspecified RTCB +OMIM:613900 skos:exactMatch UMLS:C1539956 Unspecified TGM6 +OMIM:613900 skos:exactMatch HGNC:16255 Unspecified TGM6 +OMIM:613900 skos:exactMatch HGNC_symbol:TGM6 Unspecified TGM6 +OMIM:601924 skos:exactMatch HGNC:2230 Unspecified COPA +OMIM:601924 skos:exactMatch UMLS:C1413605 Unspecified COPA +OMIM:601924 skos:exactMatch HGNC_symbol:COPA Unspecified COPA +OMIM:601925 skos:exactMatch HGNC:678 Unspecified ARHGDIA +OMIM:601925 skos:exactMatch HGNC_symbol:ARHGDIA Unspecified ARHGDIA +OMIM:601925 skos:exactMatch UMLS:C1412525 Unspecified ARHGDIA +OMIM:601926 skos:exactMatch HGNC:11800 Unspecified THRSP +OMIM:601926 skos:exactMatch UMLS:C1420727 Unspecified THRSP +OMIM:601926 skos:exactMatch HGNC_symbol:THRSP Unspecified THRSP +OMIM:601927 skos:exactMatch ORPHA:86915 Unspecified lymphedema, cardiac septal defects, and characteristic facies +OMIM:601927 skos:exactMatch UMLS:C2677167 Unspecified lymphedema, cardiac septal defects, and characteristic facies +OMIM:601928 skos:exactMatch HGNC_symbol:KRT86 Unspecified KRT86 +OMIM:601928 skos:exactMatch HGNC:6463 Unspecified KRT86 +OMIM:601928 skos:exactMatch UMLS:C1825773 Unspecified KRT86 +OMIM:601929 skos:exactMatch UMLS:C1412639 Unspecified ATP2A3 +OMIM:601929 skos:exactMatch HGNC_symbol:ATP2A3 Unspecified ATP2A3 +OMIM:601929 skos:exactMatch HGNC:813 Unspecified ATP2A3 +OMIM:183020 skos:exactMatch UMLS:C1866774 Unspecified spinal muscular atrophy, segmental +OMIM:195000 skos:exactMatch HGNC:13187 Unspecified ZP1 +OMIM:195000 skos:exactMatch HGNC_symbol:ZP1 Unspecified ZP1 +OMIM:195000 skos:exactMatch UMLS:C4014291 Unspecified ZP1 +OMIM:195000 skos:exactMatch UMLS:C1421864 Unspecified ZP1 +OMIM:601910 skos:exactMatch HGNC:4477 Unspecified GPR22 +OMIM:601910 skos:exactMatch UMLS:C1415215 Unspecified GPR22 +OMIM:601910 skos:exactMatch HGNC_symbol:GPR22 Unspecified GPR22 +OMIM:601911 skos:exactMatch UMLS:C1414078 Unspecified DLX4 +OMIM:601911 skos:exactMatch HGNC:2917 Unspecified DLX4 +OMIM:601911 skos:exactMatch HGNC_symbol:DLX4 Unspecified DLX4 +OMIM:601912 skos:exactMatch HGNC:12502 Unspecified SUMO1 +OMIM:601912 skos:exactMatch UMLS:C1539895 Unspecified SUMO1 +OMIM:601912 skos:exactMatch HGNC_symbol:SUMO1 Unspecified SUMO1 +OMIM:601913 skos:exactMatch UMLS:C1412587 Unspecified GET3 +OMIM:601913 skos:exactMatch HGNC_symbol:GET3 Unspecified GET3 +OMIM:601913 skos:exactMatch HGNC:752 Unspecified GET3 +OMIM:601914 skos:exactMatch HGNC_symbol:PRELP Unspecified PRELP +OMIM:601914 skos:exactMatch UMLS:C1418884 Unspecified PRELP +OMIM:601914 skos:exactMatch HGNC:9357 Unspecified PRELP +OMIM:601915 skos:exactMatch HGNC:11823 Unspecified TIMP4 +OMIM:601915 skos:exactMatch UMLS:C1420743 Unspecified TIMP4 +OMIM:601915 skos:exactMatch HGNC_symbol:TIMP4 Unspecified TIMP4 +OMIM:601916 skos:exactMatch UMLS:C1332114 Unspecified ARMET +OMIM:601916 skos:exactMatch HGNC_symbol:MANF Unspecified ARMET +OMIM:601916 skos:exactMatch HGNC:15461 Unspecified ARMET +OMIM:601917 skos:exactMatch UMLS:C1412342 Unspecified ALDH3B2 +OMIM:601917 skos:exactMatch HGNC_symbol:ALDH3B2 Unspecified ALDH3B2 +OMIM:601917 skos:exactMatch HGNC:411 Unspecified ALDH3B2 +OMIM:601918 skos:exactMatch UMLS:C1333668 Unspecified GDF9 +OMIM:601918 skos:exactMatch HGNC_symbol:GDF9 Unspecified GDF9 +OMIM:601918 skos:exactMatch HGNC:4224 Unspecified GDF9 +OMIM:601919 skos:exactMatch HGNC_symbol:F2RL2 Unspecified F2RL2 +OMIM:601919 skos:exactMatch HGNC:3539 Unspecified F2RL2 +OMIM:601919 skos:exactMatch UMLS:C1414507 Unspecified F2RL2 +OMIM:100640 skos:exactMatch HGNC_symbol:ALDH1A1 Unspecified ALDH1A1 +OMIM:100640 skos:exactMatch HGNC:402 Unspecified ALDH1A1 +OMIM:100640 skos:exactMatch UMLS:C1412333 Unspecified ALDH1A1 +OMIM:171060 skos:exactMatch HGNC_symbol:ABCB4 Unspecified ABCB4 +OMIM:171060 skos:exactMatch UMLS:C2609268 Unspecified ABCB4 +OMIM:171060 skos:exactMatch UMLS:C1865643 Unspecified ABCB4 +OMIM:171060 skos:exactMatch HGNC:45 Unspecified ABCB4 +OMIM:171060 skos:exactMatch UMLS:C3550019 Unspecified ABCB4 +OMIM:171060 skos:exactMatch UMLS:C1412071 Unspecified ABCB4 +OMIM:601981 skos:exactMatch UMLS:C1419411 Unspecified RNASE6 +OMIM:601981 skos:exactMatch HGNC:10048 Unspecified RNASE6 +OMIM:601981 skos:exactMatch HGNC_symbol:RNASE6 Unspecified RNASE6 +OMIM:601982 skos:exactMatch HGNC_symbol:OGG1 Unspecified OGG1 +OMIM:601982 skos:exactMatch UMLS:C1335081 Unspecified OGG1 +OMIM:601982 skos:exactMatch HGNC:8125 Unspecified OGG1 +OMIM:601983 skos:exactMatch HGNC:6863 Unspecified MAP4K1 +OMIM:601983 skos:exactMatch UMLS:C1417018 Unspecified MAP4K1 +OMIM:601983 skos:exactMatch HGNC_symbol:MAP4K1 Unspecified MAP4K1 +OMIM:601984 skos:exactMatch UMLS:C1865984 Unspecified NCOA4 +OMIM:601984 skos:exactMatch HGNC:7671 Unspecified NCOA4 +OMIM:601984 skos:exactMatch UMLS:C0812260 Unspecified NCOA4 +OMIM:601984 skos:exactMatch HGNC_symbol:NCOA4 Unspecified NCOA4 +OMIM:601985 skos:exactMatch UMLS:C1865982 Unspecified CCDC6 +OMIM:601985 skos:exactMatch HGNC_symbol:CCDC6 Unspecified CCDC6 +OMIM:601985 skos:exactMatch UMLS:C1425774 Unspecified CCDC6 +OMIM:601985 skos:exactMatch UMLS:C1868260 Unspecified CCDC6 +OMIM:601985 skos:exactMatch HGNC:18782 Unspecified CCDC6 +OMIM:611308 skos:exactMatch UMLS:C1969784 Unspecified persistent hyperplastic primary vitreous, autosomal dominant +OMIM:611309 skos:exactMatch HGNC:23355 Unspecified DEPP1 +OMIM:611309 skos:exactMatch HGNC_symbol:DEPP1 Unspecified DEPP1 +OMIM:611309 skos:exactMatch UMLS:C1428046 Unspecified DEPP1 +OMIM:601987 skos:exactMatch HGNC_symbol:CPT1B Unspecified CPT1B +OMIM:601987 skos:exactMatch UMLS:C1413689 Unspecified CPT1B +OMIM:601987 skos:exactMatch HGNC:2329 Unspecified CPT1B +OMIM:613969 skos:exactMatch UMLS:C3151410 Unspecified myopia 19, autosomal dominant +OMIM:611306 skos:exactMatch HGNC:28701 Unspecified SCARA5 +OMIM:611306 skos:exactMatch HGNC_symbol:SCARA5 Unspecified SCARA5 +OMIM:611306 skos:exactMatch UMLS:C1822624 Unspecified SCARA5 +OMIM:611307 skos:exactMatch ORPHA:206549 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 12 +OMIM:611307 skos:exactMatch UMLS:C1969785 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 12 +OMIM:613968 skos:exactMatch HGNC_symbol:TAS2R60 Unspecified TAS2R60 +OMIM:613968 skos:exactMatch HGNC:20639 Unspecified TAS2R60 +OMIM:613968 skos:exactMatch UMLS:C1427048 Unspecified TAS2R60 +OMIM:601988 skos:exactMatch HGNC:6614 Unspecified LIMK2 +OMIM:601988 skos:exactMatch HGNC_symbol:LIMK2 Unspecified LIMK2 +OMIM:601988 skos:exactMatch UMLS:C1416863 Unspecified LIMK2 +OMIM:613967 skos:exactMatch HGNC_symbol:TAS2R45 Unspecified TAS2R45 +OMIM:613967 skos:exactMatch UMLS:C1425846 Unspecified TAS2R45 +OMIM:613967 skos:exactMatch HGNC:18876 Unspecified TAS2R45 +OMIM:611304 skos:exactMatch UMLS:C1823423 Unspecified TMEM159 +OMIM:611304 skos:exactMatch HGNC:30136 Unspecified TMEM159 +OMIM:611304 skos:exactMatch HGNC_symbol:LDAF1 Unspecified TMEM159 +OMIM:601989 skos:exactMatch UMLS:C1419783 Unspecified S100A13 +OMIM:601989 skos:exactMatch HGNC:10490 Unspecified S100A13 +OMIM:601989 skos:exactMatch HGNC_symbol:S100A13 Unspecified S100A13 +OMIM:613966 skos:exactMatch HGNC_symbol:TAS2R42 Unspecified TAS2R42 +OMIM:613966 skos:exactMatch UMLS:C1425857 Unspecified TAS2R42 +OMIM:613966 skos:exactMatch HGNC:18888 Unspecified TAS2R42 +OMIM:611305 skos:exactMatch UMLS:C1428795 Unspecified ABLIM3 +OMIM:611305 skos:exactMatch HGNC_symbol:ABLIM3 Unspecified ABLIM3 +OMIM:611305 skos:exactMatch HGNC:29132 Unspecified ABLIM3 +OMIM:611302 skos:exactMatch UMLS:C1969796 Unspecified spastic ataxia 2, autosomal recessive +OMIM:613965 skos:exactMatch HGNC_symbol:TAS2R41 Unspecified TAS2R41 +OMIM:613965 skos:exactMatch UMLS:C1425853 Unspecified TAS2R41 +OMIM:613965 skos:exactMatch HGNC:18883 Unspecified TAS2R41 +OMIM:613964 skos:exactMatch UMLS:C1425855 Unspecified TAS2R40 +OMIM:613964 skos:exactMatch HGNC:18885 Unspecified TAS2R40 +OMIM:613964 skos:exactMatch HGNC_symbol:TAS2R40 Unspecified TAS2R40 +OMIM:611303 skos:exactMatch HGNC:29013 Unspecified CLEC16A +OMIM:611303 skos:exactMatch UMLS:C1825657 Unspecified CLEC16A +OMIM:611303 skos:exactMatch HGNC_symbol:CLEC16A Unspecified CLEC16A +OMIM:611300 skos:exactMatch HGNC:24012 Unspecified LARP6 +OMIM:611300 skos:exactMatch HGNC_symbol:LARP6 Unspecified LARP6 +OMIM:611300 skos:exactMatch UMLS:C1825791 Unspecified LARP6 +OMIM:613963 skos:exactMatch HGNC:19112 Unspecified TAS2R30 +OMIM:613963 skos:exactMatch UMLS:C1426018 Unspecified TAS2R30 +OMIM:613963 skos:exactMatch HGNC_symbol:TAS2R30 Unspecified TAS2R30 +OMIM:611301 skos:exactMatch HGNC_symbol:FAAP100 Unspecified FAAP100 +OMIM:611301 skos:exactMatch HGNC:26171 Unspecified FAAP100 +OMIM:611301 skos:exactMatch UMLS:C1824462 Unspecified FAAP100 +OMIM:613962 skos:exactMatch HGNC:19109 Unspecified TAS2R20 +OMIM:613962 skos:exactMatch UMLS:C1426015 Unspecified TAS2R20 +OMIM:613962 skos:exactMatch HGNC_symbol:TAS2R20 Unspecified TAS2R20 +OMIM:183086 skos:exactMatch UMLS:C0752124 Unspecified spinocerebellar ataxia 6 +OMIM:613961 skos:exactMatch HGNC:19108 Unspecified TAS2R19 +OMIM:613961 skos:exactMatch UMLS:C1426014 Unspecified TAS2R19 +OMIM:613961 skos:exactMatch HGNC_symbol:TAS2R19 Unspecified TAS2R19 +OMIM:112600 skos:exactMatch UMLS:C1832702 Unspecified brachydactyly, iia a2 +OMIM:613960 skos:exactMatch UMLS:C3151409 Unspecified granulomatous disease, chronic, autosomal recessive, 3 +OMIM:613960 skos:exactMatch ORPHA:379 Unspecified granulomatous disease, chronic, autosomal recessive, 3 +OMIM:613970 skos:exactMatch ORPHA:178469 Unspecified intellectual developmental disorder, autosomal dominant 6, with or without seizures +OMIM:613970 skos:exactMatch UMLS:C3151411 Unspecified intellectual developmental disorder, autosomal dominant 6, with or without seizures +OMIM:601990 skos:exactMatch UMLS:C0812244 Unspecified TP73 +OMIM:601990 skos:exactMatch HGNC_symbol:TP73 Unspecified TP73 +OMIM:601990 skos:exactMatch HGNC:12003 Unspecified TP73 +OMIM:601991 skos:exactMatch UMLS:C1334891 Unspecified NOVA2 +OMIM:601991 skos:exactMatch UMLS:C5394569 Unspecified NOVA2 +OMIM:601991 skos:exactMatch UMLS:C5394570 Unspecified NOVA2 +OMIM:601991 skos:exactMatch UMLS:C5394571 Unspecified NOVA2 +OMIM:601991 skos:exactMatch HGNC:7887 Unspecified NOVA2 +OMIM:601991 skos:exactMatch HGNC_symbol:NOVA2 Unspecified NOVA2 +OMIM:601970 skos:exactMatch HGNC:12695 Unspecified VIPR2 +OMIM:601970 skos:exactMatch HGNC_symbol:VIPR2 Unspecified VIPR2 +OMIM:601970 skos:exactMatch UMLS:C1421452 Unspecified VIPR2 +OMIM:601972 skos:exactMatch UMLS:C1419602 Unspecified RORB +OMIM:601972 skos:exactMatch HGNC_symbol:RORB Unspecified RORB +OMIM:601972 skos:exactMatch HGNC:10259 Unspecified RORB +OMIM:601973 skos:exactMatch HGNC:9868 Unspecified RARRES2 +OMIM:601973 skos:exactMatch HGNC_symbol:RARRES2 Unspecified RARRES2 +OMIM:601973 skos:exactMatch UMLS:C1419274 Unspecified RARRES2 +OMIM:601974 skos:exactMatch HGNC_symbol:S1PR1 Unspecified S1PR1 +OMIM:601974 skos:exactMatch HGNC:3165 Unspecified S1PR1 +OMIM:601974 skos:exactMatch UMLS:C1414253 Unspecified S1PR1 +OMIM:601975 skos:exactMatch UMLS:C1858302 Unspecified PKP1 +OMIM:601975 skos:exactMatch UMLS:C1418612 Unspecified PKP1 +OMIM:601975 skos:exactMatch HGNC_symbol:PKP1 Unspecified PKP1 +OMIM:601975 skos:exactMatch HGNC:9023 Unspecified PKP1 +OMIM:613959 skos:exactMatch UMLS:C3151408 Unspecified schizophrenia 16 +OMIM:601976 skos:exactMatch UMLS:C1865988 Unspecified otofacioosseous-gonadal syndrome +OMIM:613958 skos:exactMatch UMLS:C3151407 Unspecified spermatogenic failure 9 +OMIM:613957 skos:exactMatch UMLS:C3151406 Unspecified spermatogenic failure 8 +OMIM:601977 skos:exactMatch ORPHA:3318 Unspecified thrombocythemia 2 +OMIM:601977 skos:exactMatch UMLS:C3275998 Unspecified thrombocythemia 2 +OMIM:601977 skos:exactMatch ORPHA:71493 Unspecified thrombocythemia 2 +OMIM:601978 skos:exactMatch HGNC:8157 Unspecified SIGMAR1 +OMIM:601978 skos:exactMatch HGNC_symbol:SIGMAR1 Unspecified SIGMAR1 +OMIM:601978 skos:exactMatch UMLS:C1417966 Unspecified SIGMAR1 +OMIM:613956 skos:exactMatch UMLS:C3151405 Unspecified candidiasis, familial, 6 +OMIM:183090 skos:exactMatch UMLS:C3149907 Unspecified spinocerebellar ataxia 2 +OMIM:183090 skos:exactMatch UMLS:C0752121 Unspecified spinocerebellar ataxia 2 +OMIM:613955 skos:exactMatch UMLS:C3151404 Unspecified amyloidosis, primary localized cutaneous, 2 +OMIM:601979 skos:exactMatch UMLS:C1865986 Unspecified hyperzincemia with functional zinc depletion +OMIM:613954 skos:exactMatch ORPHA:275872 Unspecified frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +OMIM:613954 skos:exactMatch UMLS:C5436279 Unspecified frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +OMIM:613954 skos:exactMatch ORPHA:803 Unspecified frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +OMIM:613953 skos:exactMatch UMLS:C4310803 Unspecified immunodeficiency 51 +OMIM:613952 skos:exactMatch UMLS:C1539445 Unspecified TENT5C +OMIM:613952 skos:exactMatch HGNC:24712 Unspecified TENT5C +OMIM:613952 skos:exactMatch HGNC_symbol:TENT5C Unspecified TENT5C +OMIM:613951 skos:exactMatch UMLS:C3469542 Unspecified fanconi anemia, complementation group p +OMIM:613950 skos:exactMatch UMLS:C3151380 Unspecified schizophrenia 15 +OMIM:601980 skos:exactMatch HGNC:6622 Unspecified LIPF +OMIM:601980 skos:exactMatch UMLS:C1416869 Unspecified LIPF +OMIM:601980 skos:exactMatch HGNC_symbol:LIPF Unspecified LIPF +OMIM:601960 skos:exactMatch HGNC_symbol:CCL20 Unspecified CCL20 +OMIM:601960 skos:exactMatch HGNC:10619 Unspecified CCL20 +OMIM:601960 skos:exactMatch UMLS:C1366524 Unspecified CCL20 +OMIM:601961 skos:exactMatch HGNC:5186 Unspecified PRMT2 +OMIM:601961 skos:exactMatch HGNC_symbol:PRMT2 Unspecified PRMT2 +OMIM:601961 skos:exactMatch UMLS:C1826698 Unspecified PRMT2 +OMIM:601962 skos:exactMatch HGNC_symbol:TAPBP Unspecified TAPBP +OMIM:601962 skos:exactMatch HGNC:11566 Unspecified TAPBP +OMIM:601962 skos:exactMatch UMLS:C1420583 Unspecified TAPBP +OMIM:613949 skos:exactMatch UMLS:C3151379 Unspecified okt4 epitope deficiency +OMIM:601963 skos:exactMatch HGNC_symbol:TTC1 Unspecified TTC1 +OMIM:601963 skos:exactMatch HGNC:12391 Unspecified TTC1 +OMIM:601963 skos:exactMatch UMLS:C1421212 Unspecified TTC1 +OMIM:613948 skos:exactMatch HGNC:28676 Unspecified SPATA8 +OMIM:613948 skos:exactMatch HGNC_symbol:SPATA8 Unspecified SPATA8 +OMIM:613948 skos:exactMatch UMLS:C1539810 Unspecified SPATA8 +OMIM:601964 skos:exactMatch HGNC:12392 Unspecified DNAJC7 +OMIM:601964 skos:exactMatch HGNC_symbol:DNAJC7 Unspecified DNAJC7 +OMIM:601964 skos:exactMatch UMLS:C1421213 Unspecified DNAJC7 +OMIM:601965 skos:exactMatch UMLS:C1414255 Unspecified S1PR3 +OMIM:601965 skos:exactMatch HGNC_symbol:S1PR3 Unspecified S1PR3 +OMIM:601965 skos:exactMatch HGNC:3167 Unspecified S1PR3 +OMIM:613947 skos:exactMatch HGNC:18309 Unspecified SPATA6 +OMIM:613947 skos:exactMatch UMLS:C1425438 Unspecified SPATA6 +OMIM:613947 skos:exactMatch HGNC_symbol:SPATA6 Unspecified SPATA6 +OMIM:613946 skos:exactMatch UMLS:C1428417 Unspecified DNAJC5G +OMIM:613946 skos:exactMatch HGNC_symbol:DNAJC5G Unspecified DNAJC5G +OMIM:613946 skos:exactMatch HGNC:24844 Unspecified DNAJC5G +OMIM:601966 skos:exactMatch HGNC_symbol:RSC1A1 Unspecified RSC1A1 +OMIM:601966 skos:exactMatch UMLS:C1419765 Unspecified RSC1A1 +OMIM:601966 skos:exactMatch HGNC:10458 Unspecified RSC1A1 +OMIM:613945 skos:exactMatch UMLS:C1428350 Unspecified DNAJC5B +OMIM:613945 skos:exactMatch HGNC_symbol:DNAJC5B Unspecified DNAJC5B +OMIM:613945 skos:exactMatch HGNC:24138 Unspecified DNAJC5B +OMIM:601967 skos:exactMatch HGNC_symbol:WNT7B Unspecified WNT7B +OMIM:601967 skos:exactMatch HGNC:12787 Unspecified WNT7B +OMIM:601967 skos:exactMatch UMLS:C1421517 Unspecified WNT7B +OMIM:601968 skos:exactMatch HGNC_symbol:WNT2B Unspecified WNT2B +OMIM:601968 skos:exactMatch HGNC:12781 Unspecified WNT2B +OMIM:601968 skos:exactMatch UMLS:C1421515 Unspecified WNT2B +OMIM:613944 skos:exactMatch UMLS:C3151378 Unspecified iga nephropathy, susceptibility to, 2 +OMIM:613943 skos:exactMatch UMLS:C3553029 Unspecified ichthyosis, congenital, autosomal recessive 8 +OMIM:601969 skos:exactMatch HGNC:2926 Unspecified DMBT1 +OMIM:601969 skos:exactMatch HGNC_symbol:DMBT1 Unspecified DMBT1 +OMIM:601969 skos:exactMatch UMLS:C1333227 Unspecified DMBT1 +OMIM:613942 skos:exactMatch HGNC:16252 Unspecified SUN5 +OMIM:613942 skos:exactMatch UMLS:C1424125 Unspecified SUN5 +OMIM:613942 skos:exactMatch HGNC_symbol:SUN5 Unspecified SUN5 +OMIM:613941 skos:exactMatch HGNC_symbol:SPINT3 Unspecified SPINT3 +OMIM:613941 skos:exactMatch HGNC:11248 Unspecified SPINT3 +OMIM:613941 skos:exactMatch UMLS:C1420363 Unspecified SPINT3 +OMIM:613940 skos:exactMatch UMLS:C1425325 Unspecified SPATA5 +OMIM:613940 skos:exactMatch HGNC_symbol:SPATA5 Unspecified SPATA5 +OMIM:613940 skos:exactMatch HGNC:18119 Unspecified SPATA5 +OMIM:601950 skos:exactMatch UMLS:C1426391 Unspecified ZFPM1 +OMIM:601950 skos:exactMatch HGNC_symbol:ZFPM1 Unspecified ZFPM1 +OMIM:601950 skos:exactMatch HGNC:19762 Unspecified ZFPM1 +OMIM:601951 skos:exactMatch UMLS:C1413489 Unspecified CLK1 +OMIM:601951 skos:exactMatch HGNC_symbol:CLK1 Unspecified CLK1 +OMIM:601951 skos:exactMatch HGNC:2068 Unspecified CLK1 +OMIM:613939 skos:exactMatch HGNC_symbol:SPATA20 Unspecified SPATA20 +OMIM:613939 skos:exactMatch UMLS:C1823091 Unspecified SPATA20 +OMIM:613939 skos:exactMatch HGNC:26125 Unspecified SPATA20 +OMIM:613938 skos:exactMatch UMLS:C3151363 Unspecified parasomnia, sleepwalking iia +OMIM:613938 skos:exactMatch UMLS:C3151364 Unspecified parasomnia, sleepwalking iia +OMIM:601952 skos:exactMatch UMLS:C1866029 Unspecified keratosis linearis with ichthyosis congenita and sclerosing keratoderma +OMIM:613937 skos:exactMatch UMLS:C1540005 Unspecified TMEM184C +OMIM:613937 skos:exactMatch HGNC_symbol:TMEM184C Unspecified TMEM184C +OMIM:613937 skos:exactMatch HGNC:25587 Unspecified TMEM184C +OMIM:601953 skos:exactMatch HGNC_symbol:CCNH Unspecified CCNH +OMIM:601953 skos:exactMatch HGNC:1594 Unspecified CCNH +OMIM:601953 skos:exactMatch UMLS:C1413181 Unspecified CCNH +OMIM:601954 skos:exactMatch UMLS:C1866008 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 7 +OMIM:613936 skos:exactMatch UMLS:C1823362 Unspecified TMEM102 +OMIM:613936 skos:exactMatch HGNC_symbol:TMEM102 Unspecified TMEM102 +OMIM:613936 skos:exactMatch HGNC:26722 Unspecified TMEM102 +OMIM:601955 skos:exactMatch HGNC_symbol:CDK7 Unspecified CDK7 +OMIM:601955 skos:exactMatch HGNC:1778 Unspecified CDK7 +OMIM:601955 skos:exactMatch UMLS:C1413288 Unspecified CDK7 +OMIM:613935 skos:exactMatch HGNC_symbol:TMEM74 Unspecified TMEM74 +OMIM:613935 skos:exactMatch UMLS:C1823336 Unspecified TMEM74 +OMIM:613935 skos:exactMatch HGNC:26409 Unspecified TMEM74 +OMIM:601956 skos:exactMatch UMLS:C1333672 Unspecified GFRA2 +OMIM:601956 skos:exactMatch HGNC_symbol:GFRA2 Unspecified GFRA2 +OMIM:601956 skos:exactMatch HGNC:4244 Unspecified GFRA2 +OMIM:613934 skos:exactMatch HGNC_symbol:TMEM25 Unspecified TMEM25 +OMIM:613934 skos:exactMatch HGNC:25890 Unspecified TMEM25 +OMIM:613934 skos:exactMatch UMLS:C1539994 Unspecified TMEM25 +OMIM:613933 skos:exactMatch UMLS:C0268603 Unspecified acetyl-coa carboxylase deficiency +OMIM:601957 skos:exactMatch UMLS:C1865998 Unspecified odontotrichoungual-digital-palmar syndrome +OMIM:613932 skos:exactMatch UMLS:C1426311 Unspecified TNNI3K +OMIM:613932 skos:exactMatch HGNC_symbol:TNNI3K Unspecified TNNI3K +OMIM:613932 skos:exactMatch HGNC:19661 Unspecified TNNI3K +OMIM:601958 skos:exactMatch HGNC:1403 Unspecified CACNB3 +OMIM:601958 skos:exactMatch UMLS:C1413069 Unspecified CACNB3 +OMIM:601958 skos:exactMatch HGNC_symbol:CACNB3 Unspecified CACNB3 +OMIM:613931 skos:exactMatch HGNC:15954 Unspecified TOE1 +OMIM:613931 skos:exactMatch HGNC_symbol:TOE1 Unspecified TOE1 +OMIM:613931 skos:exactMatch UMLS:C1423858 Unspecified TOE1 +OMIM:601959 skos:exactMatch HGNC_symbol:NEK4 Unspecified NEK4 +OMIM:601959 skos:exactMatch UMLS:C1420472 Unspecified NEK4 +OMIM:601959 skos:exactMatch HGNC:11399 Unspecified NEK4 +OMIM:613930 skos:exactMatch UMLS:C3151362 Unspecified alopecia-intellectual disability syndrome 3 +OMIM:100600 skos:exactMatch UMLS:C0000889 Unspecified acanthosis nigricans +OMIM:611229 skos:exactMatch HGNC:25222 Unspecified ERLEC1 +OMIM:611229 skos:exactMatch HGNC_symbol:ERLEC1 Unspecified ERLEC1 +OMIM:611229 skos:exactMatch UMLS:C1540220 Unspecified ERLEC1 +OMIM:611227 skos:exactMatch HGNC_symbol:HVCN1 Unspecified HVCN1 +OMIM:611227 skos:exactMatch UMLS:C1825554 Unspecified HVCN1 +OMIM:611227 skos:exactMatch HGNC:28240 Unspecified HVCN1 +OMIM:613889 skos:exactMatch HGNC_symbol:RHOT2 Unspecified RHOT2 +OMIM:613889 skos:exactMatch HGNC:21169 Unspecified RHOT2 +OMIM:613889 skos:exactMatch UMLS:C1427383 Unspecified RHOT2 +OMIM:611228 skos:exactMatch UMLS:C1970011 Unspecified charcot-marie-tooth disease, iia 4j +OMIM:613888 skos:exactMatch HGNC_symbol:RHOT1 Unspecified RHOT1 +OMIM:613888 skos:exactMatch HGNC:21168 Unspecified RHOT1 +OMIM:613888 skos:exactMatch UMLS:C1427382 Unspecified RHOT1 +OMIM:611225 skos:exactMatch UMLS:C2749936 Unspecified spastic paraplegia 18, autosomal recessive +OMIM:613887 skos:exactMatch UMLS:C3151304 Unspecified cataract 36 +OMIM:611226 skos:exactMatch HGNC:30964 Unspecified ARMC3 +OMIM:611226 skos:exactMatch UMLS:C1429025 Unspecified ARMC3 +OMIM:611226 skos:exactMatch HGNC_symbol:ARMC3 Unspecified ARMC3 +OMIM:613886 skos:exactMatch UMLS:C3151303 Unspecified obesity, hyperphagia, and developmental delay +OMIM:611223 skos:exactMatch HGNC:393 Unspecified AKT3 +OMIM:611223 skos:exactMatch UMLS:C3552424 Unspecified AKT3 +OMIM:611223 skos:exactMatch UMLS:C1332074 Unspecified AKT3 +OMIM:611223 skos:exactMatch HGNC_symbol:AKT3 Unspecified AKT3 +OMIM:611224 skos:exactMatch HGNC:11449 Unspecified SUCLG1 +OMIM:611224 skos:exactMatch UMLS:C1420511 Unspecified SUCLG1 +OMIM:611224 skos:exactMatch HGNC_symbol:SUCLG1 Unspecified SUCLG1 +OMIM:613885 skos:exactMatch UMLS:C3836857 Unspecified meckel syndrome, iia 8 +OMIM:611221 skos:exactMatch HGNC_symbol:GSDMB Unspecified GSDMB +OMIM:611221 skos:exactMatch HGNC:23690 Unspecified GSDMB +OMIM:611221 skos:exactMatch UMLS:C1428195 Unspecified GSDMB +OMIM:613884 skos:exactMatch UMLS:C3151302 Unspecified chromosome 13q14 deletion syndrome +OMIM:613883 skos:exactMatch UMLS:C1416625 Unspecified KEL +OMIM:613883 skos:exactMatch HGNC_symbol:KEL Unspecified KEL +OMIM:613883 skos:exactMatch HGNC:6308 Unspecified KEL +OMIM:611222 skos:exactMatch UMLS:C1970013 Unspecified microphthalmia, syndromic 10 +OMIM:611230 skos:exactMatch HGNC_symbol:NCAPH2 Unspecified NCAPH2 +OMIM:611230 skos:exactMatch HGNC:25071 Unspecified NCAPH2 +OMIM:611230 skos:exactMatch UMLS:C1826385 Unspecified NCAPH2 +OMIM:613893 skos:exactMatch HGNC_symbol:DPY19L2 Unspecified DPY19L2 +OMIM:613893 skos:exactMatch UMLS:C1824975 Unspecified DPY19L2 +OMIM:613893 skos:exactMatch HGNC:19414 Unspecified DPY19L2 +OMIM:611231 skos:exactMatch HGNC:2050 Unspecified CLDN8 +OMIM:611231 skos:exactMatch UMLS:C1413478 Unspecified CLDN8 +OMIM:611231 skos:exactMatch HGNC_symbol:CLDN8 Unspecified CLDN8 +OMIM:613892 skos:exactMatch HGNC_symbol:DPY19L1 Unspecified DPY19L1 +OMIM:613892 skos:exactMatch UMLS:C1824972 Unspecified DPY19L1 +OMIM:613892 skos:exactMatch HGNC:22205 Unspecified DPY19L1 +OMIM:613891 skos:exactMatch HGNC_symbol:UMPS Unspecified UMPS +OMIM:613891 skos:exactMatch HGNC:12563 Unspecified UMPS +OMIM:613891 skos:exactMatch UMLS:C1421354 Unspecified UMPS +OMIM:613890 skos:exactMatch UMLS:C1415743 Unspecified HSD3B2 +OMIM:613890 skos:exactMatch HGNC:5218 Unspecified HSD3B2 +OMIM:613890 skos:exactMatch HGNC_symbol:HSD3B2 Unspecified HSD3B2 +OMIM:601893 skos:exactMatch UMLS:C1336674 Unspecified TRIO +OMIM:601893 skos:exactMatch UMLS:C5394205 Unspecified TRIO +OMIM:601893 skos:exactMatch HGNC_symbol:TRIO Unspecified TRIO +OMIM:601893 skos:exactMatch HGNC:12303 Unspecified TRIO +OMIM:601893 skos:exactMatch UMLS:C4310740 Unspecified TRIO +OMIM:601894 skos:exactMatch UMLS:C1866075 Unspecified glomerulopathy with fibronectin deposits 2 +OMIM:601895 skos:exactMatch HGNC_symbol:TRAF2 Unspecified TRAF2 +OMIM:601895 skos:exactMatch UMLS:C1366777 Unspecified TRAF2 +OMIM:601895 skos:exactMatch HGNC:12032 Unspecified TRAF2 +OMIM:601896 skos:exactMatch HGNC_symbol:TRAF3 Unspecified TRAF3 +OMIM:601896 skos:exactMatch UMLS:C1420888 Unspecified TRAF3 +OMIM:601896 skos:exactMatch HGNC:12033 Unspecified TRAF3 +OMIM:601897 skos:exactMatch HGNC:12933 Unspecified ZNF148 +OMIM:601897 skos:exactMatch HGNC_symbol:ZNF148 Unspecified ZNF148 +OMIM:601897 skos:exactMatch UMLS:C1421639 Unspecified ZNF148 +OMIM:601898 skos:exactMatch HGNC:4267 Unspecified GHSR +OMIM:601898 skos:exactMatch HGNC_symbol:GHSR Unspecified GHSR +OMIM:601898 skos:exactMatch UMLS:C1415065 Unspecified GHSR +OMIM:601899 skos:exactMatch HGNC_symbol:STAM Unspecified STAM +OMIM:601899 skos:exactMatch HGNC:11357 Unspecified STAM +OMIM:601899 skos:exactMatch UMLS:C1420451 Unspecified STAM +OMIM:611218 skos:exactMatch HGNC:13311 Unspecified GSDMA +OMIM:611218 skos:exactMatch UMLS:C1539617 Unspecified GSDMA +OMIM:611218 skos:exactMatch HGNC_symbol:GSDMA Unspecified GSDMA +OMIM:611219 skos:exactMatch HGNC_symbol:UNC45A Unspecified UNC45A +OMIM:611219 skos:exactMatch HGNC:30594 Unspecified UNC45A +OMIM:611219 skos:exactMatch UMLS:C1823598 Unspecified UNC45A +OMIM:611216 skos:exactMatch HGNC:14860 Unspecified UBXN4 +OMIM:611216 skos:exactMatch UMLS:C1423004 Unspecified UBXN4 +OMIM:611216 skos:exactMatch HGNC_symbol:UBXN4 Unspecified UBXN4 +OMIM:613879 skos:exactMatch HGNC:12298 Unspecified TRH +OMIM:613879 skos:exactMatch HGNC_symbol:TRH Unspecified TRH +OMIM:613879 skos:exactMatch UMLS:C1421143 Unspecified TRH +OMIM:613878 skos:exactMatch UMLS:C1333523 Unspecified F7 +OMIM:613878 skos:exactMatch HGNC:3544 Unspecified F7 +OMIM:613878 skos:exactMatch HGNC_symbol:F7 Unspecified F7 +OMIM:611217 skos:exactMatch UMLS:C1826744 Unspecified PWRN2 +OMIM:611217 skos:exactMatch HGNC:33236 Unspecified PWRN2 +OMIM:611217 skos:exactMatch HGNC_symbol:PWRN2 Unspecified PWRN2 +OMIM:611214 skos:exactMatch HGNC_symbol:TSR1 Unspecified TSR1 +OMIM:611214 skos:exactMatch HGNC:25542 Unspecified TSR1 +OMIM:611214 skos:exactMatch UMLS:C1823522 Unspecified TSR1 +OMIM:613877 skos:exactMatch UMLS:C3151268 Unspecified lipodystrophy, familial partial, iia 4 +OMIM:611215 skos:exactMatch UMLS:C1826743 Unspecified PWRN1 +OMIM:611215 skos:exactMatch HGNC:33235 Unspecified PWRN1 +OMIM:611215 skos:exactMatch HGNC_symbol:PWRN1 Unspecified PWRN1 +OMIM:613876 skos:exactMatch UMLS:C3151267 Unspecified cardiomyopathy, familial hypertrophic, 20 +OMIM:611212 skos:exactMatch HGNC_symbol:RELL1 Unspecified RELL1 +OMIM:611212 skos:exactMatch HGNC:27379 Unspecified RELL1 +OMIM:611212 skos:exactMatch UMLS:C1970015 Unspecified RELL1 +OMIM:613874 skos:exactMatch UMLS:C3151265 Unspecified cardiomyopathy, familial hypertrophic, 18 +OMIM:611213 skos:exactMatch HGNC:26902 Unspecified RELL2 +OMIM:611213 skos:exactMatch HGNC_symbol:RELL2 Unspecified RELL2 +OMIM:611213 skos:exactMatch UMLS:C1970014 Unspecified RELL2 +OMIM:611210 skos:exactMatch UMLS:C1538595 Unspecified PBK +OMIM:611210 skos:exactMatch HGNC:18282 Unspecified PBK +OMIM:611210 skos:exactMatch HGNC_symbol:PBK Unspecified PBK +OMIM:613873 skos:exactMatch UMLS:C3151264 Unspecified cardiomyopathy, familial hypertrophic, 17 +OMIM:613872 skos:exactMatch HGNC:3528 Unspecified F10 +OMIM:613872 skos:exactMatch HGNC_symbol:F10 Unspecified F10 +OMIM:613872 skos:exactMatch UMLS:C1414497 Unspecified F10 +OMIM:611211 skos:exactMatch HGNC:13764 Unspecified RELT +OMIM:611211 skos:exactMatch UMLS:C1422189 Unspecified RELT +OMIM:611211 skos:exactMatch HGNC_symbol:RELT Unspecified RELT +OMIM:613882 skos:exactMatch UMLS:C3151295 Unspecified hypomagnesemia 6, renal +OMIM:613881 skos:exactMatch UMLS:C3151293 Unspecified cardiomyopathy, dilated, 1hh +OMIM:611220 skos:exactMatch UMLS:C1823599 Unspecified UNC45B +OMIM:611220 skos:exactMatch HGNC:14304 Unspecified UNC45B +OMIM:611220 skos:exactMatch HGNC_symbol:UNC45B Unspecified UNC45B +OMIM:613880 skos:exactMatch HGNC:29153 Unspecified BAHD1 +OMIM:613880 skos:exactMatch UMLS:C1428800 Unspecified BAHD1 +OMIM:613880 skos:exactMatch HGNC_symbol:BAHD1 Unspecified BAHD1 +OMIM:100700 skos:exactMatch UMLS:C1332135 Unspecified achard syndrome +OMIM:601882 skos:exactMatch HGNC_symbol:DFFA Unspecified DFFA +OMIM:601882 skos:exactMatch HGNC:2772 Unspecified DFFA +OMIM:601882 skos:exactMatch UMLS:C1413982 Unspecified DFFA +OMIM:601883 skos:exactMatch HGNC_symbol:DFFB Unspecified DFFB +OMIM:601883 skos:exactMatch HGNC:2773 Unspecified DFFB +OMIM:601883 skos:exactMatch UMLS:C1413983 Unspecified DFFB +OMIM:601884 skos:exactMatch UMLS:C1277579 Unspecified bone mineral density quantitative trait locus 1 +OMIM:601884 skos:exactMatch UMLS:C1866079 Unspecified bone mineral density quantitative trait locus 1 +OMIM:601884 skos:exactMatch UMLS:C1866080 Unspecified bone mineral density quantitative trait locus 1 +OMIM:601885 skos:exactMatch UMLS:C1866078 Unspecified cataract 14, multiple types +OMIM:601885 skos:exactMatch ORPHA:91492 Unspecified cataract 14, multiple types +OMIM:611209 skos:exactMatch ORPHA:263508 Unspecified congenital disorder of glycosylation, iia iig +OMIM:611209 skos:exactMatch UMLS:C2931011 Unspecified congenital disorder of glycosylation, iia iig +OMIM:601886 skos:exactMatch HGNC_symbol:ASCL2 Unspecified ASCL2 +OMIM:601886 skos:exactMatch HGNC:739 Unspecified ASCL2 +OMIM:601886 skos:exactMatch UMLS:C1412575 Unspecified ASCL2 +OMIM:601887 skos:exactMatch ORPHA:423 Unspecified malignant hyperthermia, susceptibility to, 5 +OMIM:601887 skos:exactMatch UMLS:C1866077 Unspecified malignant hyperthermia, susceptibility to, 5 +OMIM:611207 skos:exactMatch UMLS:C1426675 Unspecified DNAJC1 +OMIM:611207 skos:exactMatch HGNC_symbol:DNAJC1 Unspecified DNAJC1 +OMIM:611207 skos:exactMatch HGNC:20090 Unspecified DNAJC1 +OMIM:601888 skos:exactMatch UMLS:C1866076 Unspecified malignant hyperthermia, susceptibility to, 6 +OMIM:613869 skos:exactMatch UMLS:C3151236 Unspecified myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related +OMIM:244460 skos:exactMatch UMLS:C1855648 Unspecified kenny-caffey syndrome, iia 1 +OMIM:601889 skos:exactMatch UMLS:C1412769 Unspecified NBEAP1 +OMIM:601889 skos:exactMatch HGNC:1007 Unspecified NBEAP1 +OMIM:601889 skos:exactMatch HGNC_symbol:NBEAP1 Unspecified NBEAP1 +OMIM:611208 skos:exactMatch HGNC:25127 Unspecified HNRNPLL +OMIM:611208 skos:exactMatch UMLS:C1539673 Unspecified HNRNPLL +OMIM:611208 skos:exactMatch HGNC_symbol:HNRNPLL Unspecified HNRNPLL +OMIM:611205 skos:exactMatch HGNC_symbol:CCDC88B Unspecified CCDC88B +OMIM:611205 skos:exactMatch HGNC:26757 Unspecified CCDC88B +OMIM:611205 skos:exactMatch UMLS:C1970017 Unspecified CCDC88B +OMIM:613868 skos:exactMatch HGNC_symbol:SLC14A1 Unspecified SLC14A1 +OMIM:613868 skos:exactMatch UMLS:C1420098 Unspecified SLC14A1 +OMIM:613868 skos:exactMatch HGNC:10918 Unspecified SLC14A1 +OMIM:611206 skos:exactMatch HGNC_symbol:DNAJC9 Unspecified DNAJC9 +OMIM:611206 skos:exactMatch HGNC:19123 Unspecified DNAJC9 +OMIM:611206 skos:exactMatch UMLS:C1426029 Unspecified DNAJC9 +OMIM:613867 skos:exactMatch HGNC_symbol:PLAAT3 Unspecified PLAAT3 +OMIM:613867 skos:exactMatch HGNC:17825 Unspecified PLAAT3 +OMIM:613867 skos:exactMatch UMLS:C1425107 Unspecified PLAAT3 +OMIM:611203 skos:exactMatch UMLS:C1424111 Unspecified DNAJC5 +OMIM:611203 skos:exactMatch HGNC_symbol:DNAJC5 Unspecified DNAJC5 +OMIM:611203 skos:exactMatch HGNC:16235 Unspecified DNAJC5 +OMIM:613866 skos:exactMatch HGNC_symbol:PLAAT2 Unspecified PLAAT2 +OMIM:613866 skos:exactMatch HGNC:17824 Unspecified PLAAT2 +OMIM:613866 skos:exactMatch UMLS:C1425106 Unspecified PLAAT2 +OMIM:611204 skos:exactMatch HGNC_symbol:CCDC88C Unspecified CCDC88C +OMIM:611204 skos:exactMatch HGNC:19967 Unspecified CCDC88C +OMIM:611204 skos:exactMatch UMLS:C1426569 Unspecified CCDC88C +OMIM:613865 skos:exactMatch UMLS:C3151230 Unspecified deafness, autosomal recessive 61 +OMIM:613864 skos:exactMatch HGNC:13507 Unspecified ZNF317 +OMIM:613864 skos:exactMatch UMLS:C1422028 Unspecified ZNF317 +OMIM:613864 skos:exactMatch HGNC_symbol:ZNF317 Unspecified ZNF317 +OMIM:611201 skos:exactMatch UMLS:C1425746 Unspecified KLHL9 +OMIM:611201 skos:exactMatch HGNC_symbol:KLHL9 Unspecified KLHL9 +OMIM:611201 skos:exactMatch HGNC:18732 Unspecified KLHL9 +OMIM:613863 skos:exactMatch UMLS:C3151229 Unspecified generalized epilepsy with febrile seizures plus, iia 7 +OMIM:613863 skos:exactMatch UMLS:C2751778 Unspecified generalized epilepsy with febrile seizures plus, iia 7 +OMIM:611202 skos:exactMatch UMLS:C1425831 Unspecified ASAH2 +OMIM:611202 skos:exactMatch HGNC_symbol:ASAH2 Unspecified ASAH2 +OMIM:611202 skos:exactMatch HGNC:18860 Unspecified ASAH2 +OMIM:613862 skos:exactMatch UMLS:C3151228 Unspecified retinitis pigmentosa 38 +OMIM:613861 skos:exactMatch UMLS:C3151227 Unspecified retinitis pigmentosa 59 +OMIM:613861 skos:exactMatch UMLS:C4693133 Unspecified retinitis pigmentosa 59 +OMIM:611200 skos:exactMatch HGNC_symbol:TDRD6 Unspecified TDRD6 +OMIM:611200 skos:exactMatch HGNC:21339 Unspecified TDRD6 +OMIM:611200 skos:exactMatch UMLS:C1427493 Unspecified TDRD6 +OMIM:613871 skos:exactMatch HGNC:3579 Unspecified FAH +OMIM:613871 skos:exactMatch HGNC_symbol:FAH Unspecified FAH +OMIM:613871 skos:exactMatch UMLS:C1414525 Unspecified FAH +OMIM:613870 skos:exactMatch UMLS:C3151237 Unspecified hirschsprung disease, cardiac defects, and autonomic dysfunction +OMIM:601890 skos:exactMatch HGNC_symbol:PTK7 Unspecified PTK7 +OMIM:601890 skos:exactMatch HGNC:9618 Unspecified PTK7 +OMIM:601890 skos:exactMatch UMLS:C1335276 Unspecified PTK7 +OMIM:601891 skos:exactMatch HGNC:2478 Unspecified CST6 +OMIM:601891 skos:exactMatch UMLS:C1413775 Unspecified CST6 +OMIM:601891 skos:exactMatch HGNC_symbol:CST6 Unspecified CST6 +OMIM:601892 skos:exactMatch UMLS:C1416701 Unspecified KPNA3 +OMIM:601892 skos:exactMatch HGNC:6396 Unspecified KPNA3 +OMIM:601892 skos:exactMatch HGNC_symbol:KPNA3 Unspecified KPNA3 +OMIM:601871 skos:exactMatch HGNC_symbol:CSRP2 Unspecified CSRP2 +OMIM:601871 skos:exactMatch HGNC:2470 Unspecified CSRP2 +OMIM:601871 skos:exactMatch UMLS:C1413767 Unspecified CSRP2 +OMIM:601872 skos:exactMatch HGNC:11060 Unspecified SLC7A2 +OMIM:601872 skos:exactMatch HGNC_symbol:SLC7A2 Unspecified SLC7A2 +OMIM:601872 skos:exactMatch UMLS:C1442752 Unspecified SLC7A2 +OMIM:601873 skos:exactMatch HGNC:4117 Unspecified B4GALNT1 +OMIM:601873 skos:exactMatch HGNC_symbol:B4GALNT1 Unspecified B4GALNT1 +OMIM:601873 skos:exactMatch UMLS:C1825858 Unspecified B4GALNT1 +OMIM:601874 skos:exactMatch UMLS:C1424720 Unspecified ELL2 +OMIM:601874 skos:exactMatch HGNC:17064 Unspecified ELL2 +OMIM:601874 skos:exactMatch HGNC_symbol:ELL2 Unspecified ELL2 +OMIM:601876 skos:exactMatch UMLS:C1420425 Unspecified sperm-specific antigen 1 +OMIM:613859 skos:exactMatch HGNC:12560 Unspecified UMODL1 +OMIM:613859 skos:exactMatch UMLS:C1421352 Unspecified UMODL1 +OMIM:613859 skos:exactMatch HGNC_symbol:UMODL1 Unspecified UMODL1 +OMIM:601877 skos:exactMatch HGNC_symbol:LEFTY2 Unspecified LEFTY2 +OMIM:601877 skos:exactMatch UMLS:C1537561 Unspecified LEFTY2 +OMIM:601877 skos:exactMatch HGNC:3122 Unspecified LEFTY2 +OMIM:601877 skos:exactMatch UMLS:C4015968 Unspecified LEFTY2 +OMIM:601878 skos:exactMatch HGNC:11810 Unspecified KLF10 +OMIM:601878 skos:exactMatch UMLS:C1537488 Unspecified KLF10 +OMIM:601878 skos:exactMatch HGNC_symbol:KLF10 Unspecified KLF10 +OMIM:613858 skos:exactMatch HGNC:39433 Unspecified PRSS56 +OMIM:613858 skos:exactMatch HGNC_symbol:PRSS56 Unspecified PRSS56 +OMIM:613858 skos:exactMatch UMLS:C3148643 Unspecified PRSS56 +OMIM:601879 skos:exactMatch HGNC:6570 Unspecified LGALS9 +OMIM:601879 skos:exactMatch HGNC_symbol:LGALS9 Unspecified LGALS9 +OMIM:601879 skos:exactMatch UMLS:C1416836 Unspecified LGALS9 +OMIM:613857 skos:exactMatch UMLS:C3151222 Unspecified orofacial cleft 13 +OMIM:613856 skos:exactMatch UMLS:C1841721 Unspecified achromatopsia 4 +OMIM:613855 skos:exactMatch UMLS:C1866039 Unspecified episodic ataxia, iia 5 +OMIM:613854 skos:exactMatch UMLS:C3151221 Unspecified congenital heart defects, multiple types, 6 +OMIM:613854 skos:exactMatch ORPHA:860 Unspecified congenital heart defects, multiple types, 6 +OMIM:613852 skos:exactMatch UMLS:C3151219 Unspecified fucosyltransferase 6 deficiency +OMIM:613851 skos:exactMatch HGNC_symbol:PRIMA1 Unspecified PRIMA1 +OMIM:613851 skos:exactMatch HGNC:18319 Unspecified PRIMA1 +OMIM:613851 skos:exactMatch UMLS:C1425446 Unspecified PRIMA1 +OMIM:613850 skos:exactMatch UMLS:C0342800 Unspecified inosine triphosphatase deficiency +OMIM:613860 skos:exactMatch UMLS:C3151226 Unspecified ficolin 3 deficiency +OMIM:256450 skos:exactMatch UMLS:C3888018 Unspecified hyperinsulinemic hypoglycemia, familial, 1 +OMIM:256450 skos:exactMatch UMLS:C2931832 Unspecified hyperinsulinemic hypoglycemia, familial, 1 +OMIM:601880 skos:exactMatch UMLS:C1332814 Unspecified CX3CL1 +OMIM:601880 skos:exactMatch HGNC_symbol:CX3CL1 Unspecified CX3CL1 +OMIM:601880 skos:exactMatch HGNC:10647 Unspecified CX3CL1 +OMIM:601881 skos:exactMatch HGNC:18662 Unspecified RAX +OMIM:601881 skos:exactMatch UMLS:C1425688 Unspecified RAX +OMIM:601881 skos:exactMatch HGNC_symbol:RAX Unspecified RAX +OMIM:611269 skos:exactMatch HGNC_symbol:NOM1 Unspecified NOM1 +OMIM:611269 skos:exactMatch HGNC:13244 Unspecified NOM1 +OMIM:611269 skos:exactMatch UMLS:C1538476 Unspecified NOM1 +OMIM:611267 skos:exactMatch HGNC:15194 Unspecified OR51E1 +OMIM:611267 skos:exactMatch UMLS:C1538551 Unspecified OR51E1 +OMIM:611267 skos:exactMatch HGNC_symbol:OR51E1 Unspecified OR51E1 +OMIM:611268 skos:exactMatch HGNC:15195 Unspecified OR51E2 +OMIM:611268 skos:exactMatch UMLS:C1423286 Unspecified OR51E2 +OMIM:611268 skos:exactMatch HGNC_symbol:OR51E2 Unspecified OR51E2 +OMIM:611265 skos:exactMatch HGNC:30021 Unspecified None +OMIM:611265 skos:exactMatch UMLS:C1970004 Unspecified None +OMIM:611265 skos:exactMatch HGNC_symbol:HELZ2 Unspecified None +OMIM:611266 skos:exactMatch HGNC_symbol:POTEKP Unspecified POTEKP +OMIM:611266 skos:exactMatch HGNC:30182 Unspecified POTEKP +OMIM:611266 skos:exactMatch UMLS:C1538905 Unspecified POTEKP +OMIM:611274 skos:exactMatch UMLS:C1969812 Unspecified glaucoma 1, open angle, n +OMIM:611275 skos:exactMatch HGNC:16976 Unspecified BNIPL +OMIM:611275 skos:exactMatch UMLS:C1424669 Unspecified BNIPL +OMIM:611275 skos:exactMatch HGNC_symbol:BNIPL Unspecified BNIPL +OMIM:611272 skos:exactMatch HGNC:12867 Unspecified ZKSCAN5 +OMIM:611272 skos:exactMatch UMLS:C1421576 Unspecified ZKSCAN5 +OMIM:611272 skos:exactMatch HGNC_symbol:ZKSCAN5 Unspecified ZKSCAN5 +OMIM:611273 skos:exactMatch HGNC_symbol:SKOR1 Unspecified SKOR1 +OMIM:611273 skos:exactMatch HGNC:21326 Unspecified SKOR1 +OMIM:611273 skos:exactMatch UMLS:C1825797 Unspecified SKOR1 +OMIM:611270 skos:exactMatch HGNC:15751 Unspecified NAPB +OMIM:611270 skos:exactMatch HGNC_symbol:NAPB Unspecified NAPB +OMIM:611270 skos:exactMatch UMLS:C1423703 Unspecified NAPB +OMIM:611270 skos:exactMatch UMLS:C2986382 Unspecified NAPB +OMIM:611271 skos:exactMatch HGNC_symbol:KIF18A Unspecified KIF18A +OMIM:611271 skos:exactMatch UMLS:C1537484 Unspecified KIF18A +OMIM:611271 skos:exactMatch HGNC:29441 Unspecified KIF18A +OMIM:268400 skos:exactMatch UMLS:C0032339 Unspecified rothmund-thomson syndrome, iia 2 +OMIM:244450 skos:exactMatch UMLS:C1855663 Unspecified kaufman oculocerebrofacial syndrome +OMIM:611258 skos:exactMatch HGNC_symbol:TDRD7 Unspecified TDRD7 +OMIM:611258 skos:exactMatch HGNC:30831 Unspecified TDRD7 +OMIM:611258 skos:exactMatch UMLS:C1429004 Unspecified TDRD7 +OMIM:611259 skos:exactMatch HGNC:21050 Unspecified CDKAL1 +OMIM:611259 skos:exactMatch UMLS:C1427272 Unspecified CDKAL1 +OMIM:611259 skos:exactMatch HGNC_symbol:CDKAL1 Unspecified CDKAL1 +OMIM:611256 skos:exactMatch UMLS:C1426224 Unspecified NOXO1 +OMIM:611256 skos:exactMatch HGNC:19404 Unspecified NOXO1 +OMIM:611256 skos:exactMatch HGNC_symbol:NOXO1 Unspecified NOXO1 +OMIM:611257 skos:exactMatch HGNC_symbol:TMEM132D Unspecified TMEM132D +OMIM:611257 skos:exactMatch HGNC:29411 Unspecified TMEM132D +OMIM:611257 skos:exactMatch UMLS:C1823394 Unspecified TMEM132D +OMIM:611254 skos:exactMatch UMLS:C2986382 Unspecified KIF7 +OMIM:611254 skos:exactMatch UMLS:C3277723 Unspecified KIF7 +OMIM:611254 skos:exactMatch UMLS:C3280899 Unspecified KIF7 +OMIM:611254 skos:exactMatch HGNC_symbol:KIF7 Unspecified KIF7 +OMIM:611254 skos:exactMatch UMLS:C0796147 Unspecified KIF7 +OMIM:611254 skos:exactMatch HGNC:30497 Unspecified KIF7 +OMIM:611254 skos:exactMatch UMLS:C1846722 Unspecified KIF7 +OMIM:611254 skos:exactMatch UMLS:C1537482 Unspecified KIF7 +OMIM:611254 skos:exactMatch UMLS:C3279899 Unspecified KIF7 +OMIM:611255 skos:exactMatch UMLS:C1419901 Unspecified NOXA1 +OMIM:611255 skos:exactMatch HGNC_symbol:NOXA1 Unspecified NOXA1 +OMIM:611255 skos:exactMatch HGNC:10668 Unspecified NOXA1 +OMIM:611263 skos:exactMatch UMLS:C1970005 Unspecified short-rib thoracic dysplasia 2 with or without polydactyly +OMIM:611263 skos:exactMatch ORPHA:474 Unspecified short-rib thoracic dysplasia 2 with or without polydactyly +OMIM:611264 skos:exactMatch UMLS:C1427577 Unspecified CENPW +OMIM:611264 skos:exactMatch HGNC_symbol:CENPW Unspecified CENPW +OMIM:611264 skos:exactMatch HGNC:21488 Unspecified CENPW +OMIM:611261 skos:exactMatch UMLS:C1970006 Unspecified THNSL2 +OMIM:611261 skos:exactMatch HGNC:25602 Unspecified THNSL2 +OMIM:611261 skos:exactMatch HGNC_symbol:THNSL2 Unspecified THNSL2 +OMIM:611262 skos:exactMatch UMLS:C1824956 Unspecified DOHH +OMIM:611262 skos:exactMatch HGNC:28662 Unspecified DOHH +OMIM:611262 skos:exactMatch HGNC_symbol:DOHH Unspecified DOHH +OMIM:611260 skos:exactMatch HGNC:26160 Unspecified THNSL1 +OMIM:611260 skos:exactMatch UMLS:C1539960 Unspecified THNSL1 +OMIM:611260 skos:exactMatch HGNC_symbol:THNSL1 Unspecified THNSL1 +OMIM:611249 skos:exactMatch UMLS:C1537913 Unspecified MIRLET7B +OMIM:611249 skos:exactMatch HGNC_symbol:MIRLET7B Unspecified MIRLET7B +OMIM:611249 skos:exactMatch HGNC:31479 Unspecified MIRLET7B +OMIM:611247 skos:exactMatch UMLS:C1970943 Unspecified major affective disorder 4 +OMIM:611248 skos:exactMatch HGNC_symbol:KLHDC3 Unspecified KLHDC3 +OMIM:611248 skos:exactMatch UMLS:C1427084 Unspecified KLHDC3 +OMIM:611248 skos:exactMatch HGNC:20704 Unspecified KLHDC3 +OMIM:611245 skos:exactMatch UMLS:C1823563 Unspecified TYW3 +OMIM:611245 skos:exactMatch HGNC_symbol:TYW3 Unspecified TYW3 +OMIM:611245 skos:exactMatch HGNC:24757 Unspecified TYW3 +OMIM:611246 skos:exactMatch HGNC:17558 Unspecified LCMT2 +OMIM:611246 skos:exactMatch HGNC_symbol:LCMT2 Unspecified LCMT2 +OMIM:611246 skos:exactMatch UMLS:C1424997 Unspecified LCMT2 +OMIM:611243 skos:exactMatch UMLS:C1823562 Unspecified TYW1 +OMIM:611243 skos:exactMatch HGNC:25598 Unspecified TYW1 +OMIM:611243 skos:exactMatch HGNC_symbol:TYW1 Unspecified TYW1 +OMIM:611244 skos:exactMatch HGNC_symbol:TRMT12 Unspecified TRMT12 +OMIM:611244 skos:exactMatch UMLS:C1823501 Unspecified TRMT12 +OMIM:611244 skos:exactMatch HGNC:26091 Unspecified TRMT12 +OMIM:611252 skos:exactMatch UMLS:C1970009 Unspecified spastic paraplegia 32, autosomal recessive +OMIM:611253 skos:exactMatch HGNC_symbol:KIF27 Unspecified KIF27 +OMIM:611253 skos:exactMatch UMLS:C1425662 Unspecified KIF27 +OMIM:611253 skos:exactMatch HGNC:18632 Unspecified KIF27 +OMIM:611250 skos:exactMatch HGNC:31482 Unspecified MIRLET7E +OMIM:611250 skos:exactMatch UMLS:C1537916 Unspecified MIRLET7E +OMIM:611250 skos:exactMatch HGNC_symbol:MIRLET7E Unspecified MIRLET7E +OMIM:611251 skos:exactMatch HGNC_symbol:DISP3 Unspecified DISP3 +OMIM:611251 skos:exactMatch UMLS:C1826733 Unspecified DISP3 +OMIM:611251 skos:exactMatch HGNC:29251 Unspecified DISP3 +OMIM:136600 skos:exactMatch UMLS:C1850982 Unspecified friedreich ataxia, so-called, with optic atrophy and sensorineural deafness +OMIM:611238 skos:exactMatch UMLS:C3887966 Unspecified CHCHD7 +OMIM:611238 skos:exactMatch UMLS:C1428688 Unspecified CHCHD7 +OMIM:611238 skos:exactMatch HGNC_symbol:CHCHD7 Unspecified CHCHD7 +OMIM:611238 skos:exactMatch HGNC:28314 Unspecified CHCHD7 +OMIM:611239 skos:exactMatch HGNC:24835 Unspecified GPRIN1 +OMIM:611239 skos:exactMatch UMLS:C1825413 Unspecified GPRIN1 +OMIM:611239 skos:exactMatch HGNC_symbol:GPRIN1 Unspecified GPRIN1 +OMIM:613899 skos:exactMatch HGNC_symbol:FANCC Unspecified FANCC +OMIM:613899 skos:exactMatch HGNC:3584 Unspecified FANCC +OMIM:613899 skos:exactMatch UMLS:C1414529 Unspecified FANCC +OMIM:611236 skos:exactMatch UMLS:C1540009 Unspecified TMEM38B +OMIM:611236 skos:exactMatch HGNC_symbol:TMEM38B Unspecified TMEM38B +OMIM:611236 skos:exactMatch HGNC:25535 Unspecified TMEM38B +OMIM:613898 skos:exactMatch HGNC_symbol:HMGCL Unspecified HMGCL +OMIM:613898 skos:exactMatch UMLS:C1415614 Unspecified HMGCL +OMIM:613898 skos:exactMatch HGNC:5005 Unspecified HMGCL +OMIM:611237 skos:exactMatch HGNC:21228 Unspecified BTBD9 +OMIM:611237 skos:exactMatch HGNC_symbol:BTBD9 Unspecified BTBD9 +OMIM:611237 skos:exactMatch UMLS:C1427432 Unspecified BTBD9 +OMIM:613897 skos:exactMatch HGNC_symbol:FANCF Unspecified FANCF +OMIM:613897 skos:exactMatch HGNC:3587 Unspecified FANCF +OMIM:613897 skos:exactMatch UMLS:C1414532 Unspecified FANCF +OMIM:611234 skos:exactMatch UMLS:C1825169 Unspecified FAM84A +OMIM:611234 skos:exactMatch HGNC:20743 Unspecified FAM84A +OMIM:611234 skos:exactMatch HGNC_symbol:LRATD1 Unspecified FAM84A +OMIM:613896 skos:exactMatch HGNC:1093 Unspecified BPGM +OMIM:613896 skos:exactMatch UMLS:C1291620 Unspecified BPGM +OMIM:613896 skos:exactMatch UMLS:C1412816 Unspecified BPGM +OMIM:613896 skos:exactMatch HGNC_symbol:BPGM Unspecified BPGM +OMIM:611235 skos:exactMatch UMLS:C1540008 Unspecified TMEM38A +OMIM:611235 skos:exactMatch HGNC:28462 Unspecified TMEM38A +OMIM:611235 skos:exactMatch HGNC_symbol:TMEM38A Unspecified TMEM38A +OMIM:613895 skos:exactMatch HGNC_symbol:DPY19L4 Unspecified DPY19L4 +OMIM:613895 skos:exactMatch UMLS:C1824981 Unspecified DPY19L4 +OMIM:613895 skos:exactMatch HGNC:27829 Unspecified DPY19L4 +OMIM:611232 skos:exactMatch HGNC:2034 Unspecified CLDN12 +OMIM:611232 skos:exactMatch UMLS:C1413462 Unspecified CLDN12 +OMIM:611232 skos:exactMatch HGNC_symbol:CLDN12 Unspecified CLDN12 +OMIM:611233 skos:exactMatch HGNC:24913 Unspecified ARMETL1 +OMIM:611233 skos:exactMatch UMLS:C1538945 Unspecified ARMETL1 +OMIM:611233 skos:exactMatch HGNC_symbol:CDNF Unspecified ARMETL1 +OMIM:613894 skos:exactMatch HGNC_symbol:DPY19L3 Unspecified DPY19L3 +OMIM:613894 skos:exactMatch UMLS:C1824980 Unspecified DPY19L3 +OMIM:613894 skos:exactMatch HGNC:27120 Unspecified DPY19L3 +OMIM:611241 skos:exactMatch UMLS:C1825415 Unspecified GPRIN3 +OMIM:611241 skos:exactMatch HGNC:27733 Unspecified GPRIN3 +OMIM:611241 skos:exactMatch HGNC_symbol:GPRIN3 Unspecified GPRIN3 +OMIM:611242 skos:exactMatch UMLS:C1970010 Unspecified restless legs syndrome, susceptibility to, 5 +OMIM:611240 skos:exactMatch HGNC_symbol:GPRIN2 Unspecified GPRIN2 +OMIM:611240 skos:exactMatch HGNC:23730 Unspecified GPRIN2 +OMIM:611240 skos:exactMatch UMLS:C1825414 Unspecified GPRIN2 +OMIM:244400 skos:exactMatch ORPHA:244 Unspecified ciliary dyskinesia, primary, 1 +OMIM:244400 skos:exactMatch ORPHA:98861 Unspecified ciliary dyskinesia, primary, 1 +OMIM:244400 skos:exactMatch UMLS:C4551720 Unspecified ciliary dyskinesia, primary, 1 +OMIM:244400 skos:exactMatch UMLS:C4551906 Unspecified ciliary dyskinesia, primary, 1 +OMIM:244400 skos:exactMatch UMLS:C4317124 Unspecified ciliary dyskinesia, primary, 1 +OMIM:136620 skos:exactMatch UMLS:C1850980 Unspecified fragile site 10q25 +OMIM:611298 skos:exactMatch UMLS:C1825684 Unspecified ELAPOR1 +OMIM:611298 skos:exactMatch HGNC:29618 Unspecified ELAPOR1 +OMIM:611298 skos:exactMatch HGNC_symbol:ELAPOR1 Unspecified ELAPOR1 +OMIM:611299 skos:exactMatch UMLS:C1426872 Unspecified G2E3 +OMIM:611299 skos:exactMatch HGNC:20338 Unspecified G2E3 +OMIM:611299 skos:exactMatch HGNC_symbol:G2E3 Unspecified G2E3 +OMIM:148600 skos:exactMatch UMLS:C1835662 Unspecified palmoplantar keratoderma, punctate iia 1a +OMIM:232400 skos:exactMatch ORPHA:366 Unspecified glycogen storage disease 3 +OMIM:232400 skos:exactMatch UMLS:C1968739 Unspecified glycogen storage disease 3 +OMIM:232400 skos:exactMatch UMLS:C1968741 Unspecified glycogen storage disease 3 +OMIM:232400 skos:exactMatch UMLS:C1968740 Unspecified glycogen storage disease 3 +OMIM:232400 skos:exactMatch UMLS:C1968742 Unspecified glycogen storage disease 3 +OMIM:232400 skos:exactMatch UMLS:C0017922 Unspecified glycogen storage disease 3 +OMIM:136630 skos:exactMatch UMLS:C1969893 Unspecified intellectual developmental disorder, fra12a iia +OMIM:611289 skos:exactMatch HGNC_symbol:LRG1 Unspecified LRG1 +OMIM:611289 skos:exactMatch HGNC:29480 Unspecified LRG1 +OMIM:611289 skos:exactMatch UMLS:C1428862 Unspecified LRG1 +OMIM:611287 skos:exactMatch HGNC_symbol:CNIH1 Unspecified CNIH1 +OMIM:611287 skos:exactMatch HGNC:19431 Unspecified CNIH1 +OMIM:611287 skos:exactMatch UMLS:C1426240 Unspecified CNIH1 +OMIM:611288 skos:exactMatch HGNC_symbol:CNIH2 Unspecified CNIH2 +OMIM:611288 skos:exactMatch HGNC:28744 Unspecified CNIH2 +OMIM:611288 skos:exactMatch UMLS:C1539112 Unspecified CNIH2 +OMIM:611296 skos:exactMatch HGNC_symbol:ANXA2R Unspecified ANXA2R +OMIM:611296 skos:exactMatch HGNC:33463 Unspecified ANXA2R +OMIM:611296 skos:exactMatch UMLS:C1969797 Unspecified ANXA2R +OMIM:611297 skos:exactMatch HGNC:15830 Unspecified OSR2 +OMIM:611297 skos:exactMatch UMLS:C1538552 Unspecified OSR2 +OMIM:611297 skos:exactMatch HGNC_symbol:OSR2 Unspecified OSR2 +OMIM:611294 skos:exactMatch HGNC:13399 Unspecified ONECUT3 +OMIM:611294 skos:exactMatch HGNC_symbol:ONECUT3 Unspecified ONECUT3 +OMIM:611294 skos:exactMatch UMLS:C1421973 Unspecified ONECUT3 +OMIM:611295 skos:exactMatch HGNC:25947 Unspecified KLHL24 +OMIM:611295 skos:exactMatch HGNC_symbol:KLHL24 Unspecified KLHL24 +OMIM:611295 skos:exactMatch UMLS:C1825726 Unspecified KLHL24 +OMIM:611292 skos:exactMatch HGNC:23139 Unspecified CLVS1 +OMIM:611292 skos:exactMatch HGNC_symbol:CLVS1 Unspecified CLVS1 +OMIM:611292 skos:exactMatch UMLS:C1969798 Unspecified CLVS1 +OMIM:611293 skos:exactMatch UMLS:C1824612 Unspecified CCDC86 +OMIM:611293 skos:exactMatch HGNC:28359 Unspecified CCDC86 +OMIM:611293 skos:exactMatch HGNC_symbol:CCDC86 Unspecified CCDC86 +OMIM:611290 skos:exactMatch HGNC:25737 Unspecified NHEJ1 +OMIM:611290 skos:exactMatch UMLS:C1826402 Unspecified NHEJ1 +OMIM:611290 skos:exactMatch HGNC_symbol:NHEJ1 Unspecified NHEJ1 +OMIM:611291 skos:exactMatch UMLS:C1969799 Unspecified severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation +OMIM:136640 skos:exactMatch UMLS:C1850978 Unspecified fragile site 9q32 +OMIM:611278 skos:exactMatch HGNC_symbol:KIF12 Unspecified KIF12 +OMIM:611278 skos:exactMatch UMLS:C1427584 Unspecified KIF12 +OMIM:611278 skos:exactMatch HGNC:21495 Unspecified KIF12 +OMIM:611279 skos:exactMatch HGNC_symbol:KIF14 Unspecified KIF14 +OMIM:611279 skos:exactMatch UMLS:C1426070 Unspecified KIF14 +OMIM:611279 skos:exactMatch HGNC:19181 Unspecified KIF14 +OMIM:611276 skos:exactMatch UMLS:C1969811 Unspecified glaucoma 1, open angle, h +OMIM:611285 skos:exactMatch HGNC_symbol:KCTD5 Unspecified KCTD5 +OMIM:611285 skos:exactMatch HGNC:21423 Unspecified KCTD5 +OMIM:611285 skos:exactMatch UMLS:C1427556 Unspecified KCTD5 +OMIM:611286 skos:exactMatch UMLS:C1425216 Unspecified RTCD1 +OMIM:611286 skos:exactMatch HGNC_symbol:RTCA Unspecified RTCD1 +OMIM:611286 skos:exactMatch HGNC:17981 Unspecified RTCD1 +OMIM:611283 skos:exactMatch UMLS:C1969809 Unspecified isobutyryl-coa dehydrogenase deficiency +OMIM:611284 skos:exactMatch UMLS:C2749929 Unspecified dystonia, focal, task-specific +OMIM:611284 skos:exactMatch UMLS:C1969807 Unspecified dystonia, focal, task-specific +OMIM:611281 skos:exactMatch HGNC_symbol:KLHDC1 Unspecified KLHDC1 +OMIM:611281 skos:exactMatch HGNC:19836 Unspecified KLHDC1 +OMIM:611281 skos:exactMatch UMLS:C1426463 Unspecified KLHDC1 +OMIM:611282 skos:exactMatch HGNC:30373 Unspecified DNMBP +OMIM:611282 skos:exactMatch HGNC_symbol:DNMBP Unspecified DNMBP +OMIM:611282 skos:exactMatch UMLS:C1428968 Unspecified DNMBP +OMIM:611280 skos:exactMatch HGNC_symbol:KLHDC2 Unspecified KLHDC2 +OMIM:611280 skos:exactMatch HGNC:20231 Unspecified KLHDC2 +OMIM:611280 skos:exactMatch UMLS:C1426794 Unspecified KLHDC2 +OMIM:219400 skos:exactMatch UMLS:C1857443 Unspecified cyanosis and hepatic disease +OMIM:305800 skos:exactMatch UMLS:C1844501 Unspecified membranoproliferative glomerulonephritis, X-linked +OMIM:134000 skos:exactMatch UMLS:C1851400 Unspecified facial hypertrichosis +OMIM:161600 skos:exactMatch UMLS:C1267087 Unspecified navicular bone, accessory +OMIM:136660 skos:exactMatch UMLS:C1850977 Unspecified fragile site 17p12 +OMIM:109091 skos:exactMatch HGNC_symbol:CALR Unspecified CALR +OMIM:109091 skos:exactMatch HGNC:1455 Unspecified CALR +OMIM:109091 skos:exactMatch UMLS:C1413096 Unspecified CALR +OMIM:109090 skos:exactMatch HGNC_symbol:SSB Unspecified SSB +OMIM:109090 skos:exactMatch HGNC:11316 Unspecified SSB +OMIM:109090 skos:exactMatch UMLS:C1420423 Unspecified SSB +OMIM:109092 skos:exactMatch HGNC:11312 Unspecified TRIM21 +OMIM:109092 skos:exactMatch UMLS:C1540056 Unspecified TRIM21 +OMIM:109092 skos:exactMatch HGNC_symbol:TRIM21 Unspecified TRIM21 +OMIM:173610 skos:exactMatch HGNC:10721 Unspecified SELP +OMIM:173610 skos:exactMatch HGNC_symbol:SELP Unspecified SELP +OMIM:173610 skos:exactMatch UMLS:C1335809 Unspecified SELP +OMIM:136680 skos:exactMatch UMLS:C0950122 Unspecified frasier syndrome +OMIM:220400 skos:exactMatch UMLS:C4551509 Unspecified jervell and lange-nielsen syndrome 1 +OMIM:146000 skos:exactMatch UMLS:C0410529 Unspecified hypochondroplasia +OMIM:173600 skos:exactMatch UMLS:C1868193 Unspecified pneumothorax, primary spontaneous +OMIM:163950 skos:exactMatch UMLS:C0028326 Unspecified noonan syndrome 1 +OMIM:163950 skos:exactMatch UMLS:C4551602 Unspecified noonan syndrome 1 +OMIM:163950 skos:exactMatch UMLS:C1527404 Unspecified noonan syndrome 1 +OMIM:163950 skos:exactMatch ORPHA:648 Unspecified noonan syndrome 1 +OMIM:163950 skos:exactMatch UMLS:C0041409 Unspecified noonan syndrome 1 +OMIM:112370 skos:exactMatch UMLS:C1862171 Unspecified brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay +OMIM:187930 skos:exactMatch HGNC:3537 Unspecified F2R +OMIM:187930 skos:exactMatch UMLS:C1366449 Unspecified F2R +OMIM:187930 skos:exactMatch HGNC_symbol:F2R Unspecified F2R +OMIM:112350 skos:exactMatch UMLS:C1862172 Unspecified weismann-netter syndrome +OMIM:209800 skos:exactMatch UMLS:C0019168 Unspecified australia antigen +OMIM:425500 skos:exactMatch UMLS:C1839070 Unspecified hairy ears, Y-linked +OMIM:136350 skos:exactMatch UMLS:C3549724 Unspecified FGFR1 +OMIM:136350 skos:exactMatch UMLS:C1851029 Unspecified FGFR1 +OMIM:136350 skos:exactMatch UMLS:C1851030 Unspecified FGFR1 +OMIM:136350 skos:exactMatch UMLS:C1865737 Unspecified FGFR1 +OMIM:136350 skos:exactMatch UMLS:C0919509 Unspecified FGFR1 +OMIM:136350 skos:exactMatch HGNC_symbol:FGFR1 Unspecified FGFR1 +OMIM:136350 skos:exactMatch HGNC:3688 Unspecified FGFR1 +OMIM:136351 skos:exactMatch UMLS:C1333568 Unspecified FLT3 +OMIM:136351 skos:exactMatch HGNC_symbol:FLT3 Unspecified FLT3 +OMIM:136351 skos:exactMatch HGNC:3765 Unspecified FLT3 +OMIM:163970 skos:exactMatch HGNC:11048 Unspecified SLC6A2 +OMIM:163970 skos:exactMatch UMLS:C1420212 Unspecified SLC6A2 +OMIM:163970 skos:exactMatch HGNC_symbol:SLC6A2 Unspecified SLC6A2 +OMIM:136352 skos:exactMatch HGNC_symbol:FLT4 Unspecified FLT4 +OMIM:136352 skos:exactMatch UMLS:C1704423 Unspecified FLT4 +OMIM:136352 skos:exactMatch UMLS:C5394062 Unspecified FLT4 +OMIM:136352 skos:exactMatch UMLS:C4016109 Unspecified FLT4 +OMIM:136352 skos:exactMatch UMLS:C1333569 Unspecified FLT4 +OMIM:136352 skos:exactMatch HGNC:3767 Unspecified FLT4 +OMIM:187900 skos:exactMatch UMLS:C1861194 Unspecified bleeding disorder, platelet-type, 17 +OMIM:148350 skos:exactMatch UMLS:C1835672 Unspecified keratoderma, palmoplantar, with deafness +OMIM:151990 skos:exactMatch HGNC:6517 Unspecified LBP +OMIM:151990 skos:exactMatch UMLS:C1416801 Unspecified LBP +OMIM:151990 skos:exactMatch HGNC_symbol:LBP Unspecified LBP +OMIM:185300 skos:exactMatch UMLS:C0038505 Unspecified sturge-weber syndrome +OMIM:185300 skos:exactMatch ORPHA:3205 Unspecified sturge-weber syndrome +OMIM:148360 skos:exactMatch UMLS:C1835671 Unspecified keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy +OMIM:124300 skos:exactMatch UMLS:C2751189 Unspecified darwinian tubercle of pinna +OMIM:124300 skos:exactMatch UMLS:C1852294 Unspecified darwinian tubercle of pinna +OMIM:173310 skos:exactMatch HGNC_symbol:PAEP Unspecified PAEP +OMIM:173310 skos:exactMatch UMLS:C1418244 Unspecified PAEP +OMIM:173310 skos:exactMatch HGNC:8573 Unspecified PAEP +OMIM:112310 skos:exactMatch ORPHA:1263 Unspecified boomerang dysplasia +OMIM:112310 skos:exactMatch UMLS:C0432201 Unspecified boomerang dysplasia +OMIM:163980 skos:exactMatch UMLS:C1413309 Unspecified CEACAM6 +OMIM:163980 skos:exactMatch HGNC:1818 Unspecified CEACAM6 +OMIM:163980 skos:exactMatch HGNC_symbol:CEACAM6 Unspecified CEACAM6 +OMIM:148370 skos:exactMatch UMLS:C0406756 Unspecified keratolytic winter erythema +OMIM:126950 skos:exactMatch UMLS:C1851996 Unspecified dwarfism with tall vertebrae +OMIM:112300 skos:exactMatch UMLS:C0457014 Unspecified book syndrome +OMIM:187940 skos:exactMatch UMLS:C1861193 Unspecified thrombocyte B +OMIM:173335 skos:exactMatch HGNC:3356 Unspecified ENPP1 +OMIM:173335 skos:exactMatch UMLS:C5436943 Unspecified ENPP1 +OMIM:173335 skos:exactMatch UMLS:C2750078 Unspecified ENPP1 +OMIM:173335 skos:exactMatch UMLS:C1866432 Unspecified ENPP1 +OMIM:173335 skos:exactMatch HGNC_symbol:ENPP1 Unspecified ENPP1 +OMIM:173335 skos:exactMatch UMLS:C3809781 Unspecified ENPP1 +OMIM:173335 skos:exactMatch UMLS:C1852091 Unspecified ENPP1 +OMIM:173335 skos:exactMatch UMLS:C1414407 Unspecified ENPP1 +OMIM:173335 skos:exactMatch UMLS:C3837967 Unspecified ENPP1 +OMIM:173335 skos:exactMatch UMLS:C4551985 Unspecified ENPP1 +OMIM:187950 skos:exactMatch ORPHA:71493 Unspecified thrombocythemia 1 +OMIM:187950 skos:exactMatch UMLS:C3277671 Unspecified thrombocythemia 1 +OMIM:187950 skos:exactMatch ORPHA:3318 Unspecified thrombocythemia 1 +OMIM:148390 skos:exactMatch UMLS:C2675099 Unspecified keratosis, familial actinic +OMIM:173321 skos:exactMatch UMLS:C1418551 Unspecified SERPINB6 +OMIM:173321 skos:exactMatch HGNC_symbol:SERPINB6 Unspecified SERPINB6 +OMIM:173321 skos:exactMatch HGNC:8950 Unspecified SERPINB6 +OMIM:173320 skos:exactMatch HGNC_symbol:RNH1 Unspecified RNH1 +OMIM:173320 skos:exactMatch HGNC:10074 Unspecified RNH1 +OMIM:173320 skos:exactMatch UMLS:C1826843 Unspecified RNH1 +OMIM:173325 skos:exactMatch HGNC:6207 Unspecified JUP +OMIM:173325 skos:exactMatch HGNC_symbol:JUP Unspecified JUP +OMIM:173325 skos:exactMatch UMLS:C1334295 Unspecified JUP +OMIM:102980 skos:exactMatch HGNC:241 Unspecified ADCYAP1 +OMIM:102980 skos:exactMatch HGNC_symbol:ADCYAP1 Unspecified ADCYAP1 +OMIM:102980 skos:exactMatch UMLS:C1412228 Unspecified ADCYAP1 +OMIM:102981 skos:exactMatch UMLS:C1412229 Unspecified ADCYAP1R1 +OMIM:102981 skos:exactMatch HGNC_symbol:ADCYAP1R1 Unspecified ADCYAP1R1 +OMIM:102981 skos:exactMatch HGNC:242 Unspecified ADCYAP1R1 +OMIM:305690 skos:exactMatch UMLS:C1844502 Unspecified genitourinary tract anomalies +OMIM:173350 skos:exactMatch UMLS:C1367553 Unspecified PLG +OMIM:173350 skos:exactMatch HGNC:9071 Unspecified PLG +OMIM:173350 skos:exactMatch UMLS:C0290149 Unspecified PLG +OMIM:173350 skos:exactMatch HGNC_symbol:PLG Unspecified PLG +OMIM:100300 skos:exactMatch UMLS:C4551482 Unspecified adams-oliver syndrome 1 +OMIM:100300 skos:exactMatch UMLS:C1970140 Unspecified adams-oliver syndrome 1 +OMIM:173340 skos:exactMatch HGNC_symbol:PLGLB1 Unspecified PLGLB1 +OMIM:173340 skos:exactMatch HGNC:9072 Unspecified PLGLB1 +OMIM:173340 skos:exactMatch UMLS:C1538678 Unspecified PLGLB1 +OMIM:126900 skos:exactMatch UMLS:C1851998 Unspecified dupuytren contracture +OMIM:126900 skos:exactMatch UMLS:C1851997 Unspecified dupuytren contracture +OMIM:126900 skos:exactMatch UMLS:C0013312 Unspecified dupuytren contracture +OMIM:173370 skos:exactMatch HGNC_symbol:PLAT Unspecified PLAT +OMIM:173370 skos:exactMatch UMLS:C1367601 Unspecified PLAT +OMIM:173370 skos:exactMatch HGNC:9051 Unspecified PLAT +OMIM:305670 skos:exactMatch HGNC:4609 Unspecified GRPR +OMIM:305670 skos:exactMatch HGNC_symbol:GRPR Unspecified GRPR +OMIM:305670 skos:exactMatch UMLS:C1415314 Unspecified GRPR +OMIM:268150 skos:exactMatch UMLS:C4693977 Unspecified rh-null, regulator iia +OMIM:268150 skos:exactMatch UMLS:C1849387 Unspecified rh-null, regulator iia +OMIM:268150 skos:exactMatch UMLS:C0272052 Unspecified rh-null, regulator iia +OMIM:173360 skos:exactMatch HGNC:8583 Unspecified SERPINE1 +OMIM:173360 skos:exactMatch UMLS:C1418252 Unspecified SERPINE1 +OMIM:173360 skos:exactMatch HGNC_symbol:SERPINE1 Unspecified SERPINE1 +OMIM:611429 skos:exactMatch UMLS:C1824131 Unspecified APRG1 +OMIM:611429 skos:exactMatch HGNC:24082 Unspecified APRG1 +OMIM:611429 skos:exactMatch HGNC_symbol:APRG1 Unspecified APRG1 +OMIM:611427 skos:exactMatch HGNC:21055 Unspecified MTHFD1L +OMIM:611427 skos:exactMatch HGNC_symbol:MTHFD1L Unspecified MTHFD1L +OMIM:611427 skos:exactMatch UMLS:C1538020 Unspecified MTHFD1L +OMIM:611428 skos:exactMatch UMLS:C1414132 Unspecified DONSON +OMIM:611428 skos:exactMatch HGNC:2993 Unspecified DONSON +OMIM:611428 skos:exactMatch HGNC_symbol:DONSON Unspecified DONSON +OMIM:611425 skos:exactMatch HGNC:29616 Unspecified CNTROB +OMIM:611425 skos:exactMatch UMLS:C1824770 Unspecified CNTROB +OMIM:611425 skos:exactMatch HGNC_symbol:CNTROB Unspecified CNTROB +OMIM:611426 skos:exactMatch UMLS:C1969624 Unspecified tented eyebrows +OMIM:611423 skos:exactMatch UMLS:C1824718 Unspecified CEP135 +OMIM:611423 skos:exactMatch HGNC:29086 Unspecified CEP135 +OMIM:611423 skos:exactMatch HGNC_symbol:CEP135 Unspecified CEP135 +OMIM:256150 skos:exactMatch UMLS:C0268232 Unspecified nephrosialidosis +OMIM:611424 skos:exactMatch UMLS:C1427361 Unspecified ZMYND19 +OMIM:611424 skos:exactMatch HGNC_symbol:ZMYND19 Unspecified ZMYND19 +OMIM:611424 skos:exactMatch HGNC:21146 Unspecified ZMYND19 +OMIM:611421 skos:exactMatch UMLS:C1969628 Unspecified SRCAP +OMIM:611421 skos:exactMatch HGNC:16974 Unspecified SRCAP +OMIM:611421 skos:exactMatch HGNC_symbol:SRCAP Unspecified SRCAP +OMIM:611422 skos:exactMatch HGNC_symbol:MND1 Unspecified MND1 +OMIM:611422 skos:exactMatch UMLS:C1826262 Unspecified MND1 +OMIM:611422 skos:exactMatch HGNC:24839 Unspecified MND1 +OMIM:114900 skos:exactMatch UMLS:C0349535 Unspecified carcinoid tumors, intestinal +OMIM:611420 skos:exactMatch HGNC:16744 Unspecified CIZ1 +OMIM:611420 skos:exactMatch HGNC_symbol:CIZ1 Unspecified CIZ1 +OMIM:611420 skos:exactMatch UMLS:C1424515 Unspecified CIZ1 +OMIM:102910 skos:exactMatch HGNC_symbol:ATP5F1B Unspecified ATP5F1B +OMIM:102910 skos:exactMatch HGNC:830 Unspecified ATP5F1B +OMIM:102910 skos:exactMatch UMLS:C1412653 Unspecified ATP5F1B +OMIM:173391 skos:exactMatch UMLS:C1367689 Unspecified PLAUR +OMIM:173391 skos:exactMatch HGNC:9053 Unspecified PLAUR +OMIM:173391 skos:exactMatch HGNC_symbol:PLAUR Unspecified PLAUR +OMIM:173390 skos:exactMatch UMLS:C1418253 Unspecified SERPINB2 +OMIM:173390 skos:exactMatch HGNC_symbol:SERPINB2 Unspecified SERPINB2 +OMIM:173390 skos:exactMatch HGNC:8584 Unspecified SERPINB2 +OMIM:173395 skos:exactMatch UMLS:C1868264 Unspecified platelet adenylate cyclase activity +OMIM:173393 skos:exactMatch UMLS:C1419053 Unspecified PTAFR +OMIM:173393 skos:exactMatch HGNC:9582 Unspecified PTAFR +OMIM:173393 skos:exactMatch HGNC_symbol:PTAFR Unspecified PTAFR +OMIM:611418 skos:exactMatch HGNC:29026 Unspecified SGSM2 +OMIM:611418 skos:exactMatch UMLS:C1428780 Unspecified SGSM2 +OMIM:611418 skos:exactMatch HGNC_symbol:SGSM2 Unspecified SGSM2 +OMIM:611419 skos:exactMatch HGNC:1340 Unspecified SMIM29 +OMIM:611419 skos:exactMatch UMLS:C1413015 Unspecified SMIM29 +OMIM:611419 skos:exactMatch HGNC_symbol:SMIM29 Unspecified SMIM29 +OMIM:611416 skos:exactMatch HGNC:11972 Unspecified TOX3 +OMIM:611416 skos:exactMatch UMLS:C1420847 Unspecified TOX3 +OMIM:611416 skos:exactMatch HGNC_symbol:TOX3 Unspecified TOX3 +OMIM:611417 skos:exactMatch HGNC:29410 Unspecified SGSM1 +OMIM:611417 skos:exactMatch UMLS:C1428855 Unspecified SGSM1 +OMIM:611417 skos:exactMatch HGNC_symbol:SGSM1 Unspecified SGSM1 +OMIM:611414 skos:exactMatch HGNC_symbol:CALR3 Unspecified CALR3 +OMIM:611414 skos:exactMatch HGNC:20407 Unspecified CALR3 +OMIM:611414 skos:exactMatch UMLS:C1426922 Unspecified CALR3 +OMIM:611415 skos:exactMatch UMLS:C1427199 Unspecified POLD3 +OMIM:611415 skos:exactMatch HGNC_symbol:POLD3 Unspecified POLD3 +OMIM:611415 skos:exactMatch HGNC:20932 Unspecified POLD3 +OMIM:611412 skos:exactMatch HGNC:16781 Unspecified NPL +OMIM:611412 skos:exactMatch HGNC_symbol:NPL Unspecified NPL +OMIM:611412 skos:exactMatch UMLS:C1424540 Unspecified NPL +OMIM:611413 skos:exactMatch HGNC_symbol:DLGAP3 Unspecified DLGAP3 +OMIM:611413 skos:exactMatch UMLS:C1428966 Unspecified DLGAP3 +OMIM:611413 skos:exactMatch HGNC:30368 Unspecified DLGAP3 +OMIM:611410 skos:exactMatch HGNC:13872 Unspecified RIPOR2 +OMIM:611410 skos:exactMatch UMLS:C1422247 Unspecified RIPOR2 +OMIM:611410 skos:exactMatch HGNC_symbol:RIPOR2 Unspecified RIPOR2 +OMIM:611411 skos:exactMatch HGNC:1469 Unspecified CAMKK1 +OMIM:611411 skos:exactMatch UMLS:C1413104 Unspecified CAMKK1 +OMIM:611411 skos:exactMatch HGNC_symbol:CAMKK1 Unspecified CAMKK1 +OMIM:268130 skos:exactMatch UMLS:C1327916 Unspecified revesz syndrome +OMIM:611409 skos:exactMatch HGNC_symbol:OCA2 Unspecified OCA2 +OMIM:611409 skos:exactMatch UMLS:C1856895 Unspecified OCA2 +OMIM:611409 skos:exactMatch UMLS:C1417925 Unspecified OCA2 +OMIM:611409 skos:exactMatch HGNC:8101 Unspecified OCA2 +OMIM:611409 skos:exactMatch UMLS:C0268497 Unspecified OCA2 +OMIM:611409 skos:exactMatch UMLS:C0268495 Unspecified OCA2 +OMIM:611407 skos:exactMatch UMLS:C1969639 Unspecified cardiomyopathy, dilated, 1w +OMIM:611408 skos:exactMatch UMLS:C1537529 Unspecified LCA5 +OMIM:611408 skos:exactMatch HGNC_symbol:LCA5 Unspecified LCA5 +OMIM:611408 skos:exactMatch HGNC:31923 Unspecified LCA5 +OMIM:611405 skos:exactMatch HGNC:17687 Unspecified RCL1 +OMIM:611405 skos:exactMatch UMLS:C1425036 Unspecified RCL1 +OMIM:611405 skos:exactMatch HGNC_symbol:RCL1 Unspecified RCL1 +OMIM:611406 skos:exactMatch UMLS:C1825009 Unspecified DYNC1LI2 +OMIM:611406 skos:exactMatch HGNC:2966 Unspecified DYNC1LI2 +OMIM:611406 skos:exactMatch HGNC_symbol:DYNC1LI2 Unspecified DYNC1LI2 +OMIM:611403 skos:exactMatch UMLS:C1969640 Unspecified asthma-related traits, susceptibility to, 6 +OMIM:611404 skos:exactMatch HGNC_symbol:LY6G6F Unspecified LY6G6F +OMIM:611404 skos:exactMatch HGNC:13933 Unspecified LY6G6F +OMIM:611404 skos:exactMatch UMLS:C1422281 Unspecified LY6G6F +OMIM:611401 skos:exactMatch HGNC_symbol:C6orf15 Unspecified C6ORF15 +OMIM:611401 skos:exactMatch HGNC:13927 Unspecified C6ORF15 +OMIM:611401 skos:exactMatch UMLS:C1422277 Unspecified C6ORF15 +OMIM:611402 skos:exactMatch HGNC:28301 Unspecified DOK6 +OMIM:611402 skos:exactMatch HGNC_symbol:DOK6 Unspecified DOK6 +OMIM:611402 skos:exactMatch UMLS:C1539310 Unspecified DOK6 +OMIM:611400 skos:exactMatch HGNC_symbol:HOTAIR Unspecified HOTAIR +OMIM:611400 skos:exactMatch UMLS:C1969641 Unspecified HOTAIR +OMIM:611400 skos:exactMatch HGNC:33510 Unspecified HOTAIR +OMIM:256120 skos:exactMatch UMLS:C1850553 Unspecified nephropathy, deafness, and hyperparathyroidism +OMIM:268100 skos:exactMatch UMLS:C1849394 Unspecified enhanced s-cone syndrome +OMIM:268100 skos:exactMatch UMLS:C0339541 Unspecified enhanced s-cone syndrome +OMIM:102900 skos:exactMatch UMLS:C1863224 Unspecified adenosine triphosphate, elevated, of erythrocytes +OMIM:611348 skos:exactMatch HGNC:25048 Unspecified INTS4 +OMIM:611348 skos:exactMatch UMLS:C1825606 Unspecified INTS4 +OMIM:611348 skos:exactMatch HGNC_symbol:INTS4 Unspecified INTS4 +OMIM:220150 skos:exactMatch UMLS:C0473219 Unspecified hypouricemia, renal, 1 +OMIM:611349 skos:exactMatch UMLS:C1825607 Unspecified INTS5 +OMIM:611349 skos:exactMatch HGNC:29352 Unspecified INTS5 +OMIM:611349 skos:exactMatch HGNC_symbol:INTS5 Unspecified INTS5 +OMIM:611346 skos:exactMatch UMLS:C1825604 Unspecified INTS2 +OMIM:611346 skos:exactMatch HGNC:29241 Unspecified INTS2 +OMIM:611346 skos:exactMatch HGNC_symbol:INTS2 Unspecified INTS2 +OMIM:611347 skos:exactMatch UMLS:C1825605 Unspecified INTS3 +OMIM:611347 skos:exactMatch HGNC:26153 Unspecified INTS3 +OMIM:611347 skos:exactMatch HGNC_symbol:INTS3 Unspecified INTS3 +OMIM:611344 skos:exactMatch HGNC_symbol:RASEF Unspecified RASEF +OMIM:611344 skos:exactMatch UMLS:C1538784 Unspecified RASEF +OMIM:611344 skos:exactMatch HGNC:26464 Unspecified RASEF +OMIM:611345 skos:exactMatch UMLS:C5231414 Unspecified INTS1 +OMIM:611345 skos:exactMatch HGNC:24555 Unspecified INTS1 +OMIM:611345 skos:exactMatch UMLS:C1825603 Unspecified INTS1 +OMIM:611345 skos:exactMatch HGNC_symbol:INTS1 Unspecified INTS1 +OMIM:611342 skos:exactMatch UMLS:C1428674 Unspecified C9ORF64 +OMIM:611342 skos:exactMatch HGNC:28144 Unspecified C9ORF64 +OMIM:611342 skos:exactMatch HGNC_symbol:C9orf64 Unspecified C9ORF64 +OMIM:611343 skos:exactMatch UMLS:C1538339 Unspecified IDNK +OMIM:611343 skos:exactMatch HGNC:31367 Unspecified IDNK +OMIM:611343 skos:exactMatch HGNC_symbol:IDNK Unspecified IDNK +OMIM:611351 skos:exactMatch UMLS:C1825610 Unspecified INTS8 +OMIM:611351 skos:exactMatch HGNC:26048 Unspecified INTS8 +OMIM:611351 skos:exactMatch HGNC_symbol:INTS8 Unspecified INTS8 +OMIM:611352 skos:exactMatch UMLS:C1969781 Unspecified INTS9 +OMIM:611352 skos:exactMatch HGNC_symbol:INTS9 Unspecified INTS9 +OMIM:611352 skos:exactMatch HGNC:25592 Unspecified INTS9 +OMIM:611350 skos:exactMatch UMLS:C1825609 Unspecified INTS7 +OMIM:611350 skos:exactMatch HGNC_symbol:INTS7 Unspecified INTS7 +OMIM:611350 skos:exactMatch HGNC:24484 Unspecified INTS7 +OMIM:256100 skos:exactMatch UMLS:C4551979 Unspecified nephronophthisis 1 +OMIM:611339 skos:exactMatch HGNC_symbol:ATG4C Unspecified ATG4C +OMIM:611339 skos:exactMatch UMLS:C1825495 Unspecified ATG4C +OMIM:611339 skos:exactMatch HGNC:16040 Unspecified ATG4C +OMIM:611337 skos:exactMatch HGNC_symbol:DNAJB8 Unspecified DNAJB8 +OMIM:611337 skos:exactMatch HGNC:23699 Unspecified DNAJB8 +OMIM:611337 skos:exactMatch UMLS:C1428203 Unspecified DNAJB8 +OMIM:611338 skos:exactMatch HGNC_symbol:ATG4B Unspecified ATG4B +OMIM:611338 skos:exactMatch UMLS:C1427125 Unspecified ATG4B +OMIM:611338 skos:exactMatch HGNC:20790 Unspecified ATG4B +OMIM:613999 skos:exactMatch HGNC:31991 Unspecified NBPF9 +OMIM:613999 skos:exactMatch UMLS:C1826367 Unspecified NBPF9 +OMIM:613999 skos:exactMatch HGNC_symbol:NBPF9 Unspecified NBPF9 +OMIM:611335 skos:exactMatch UMLS:C1822814 Unspecified SNORA5C +OMIM:611335 skos:exactMatch HGNC_symbol:SNORA5C Unspecified SNORA5C +OMIM:611335 skos:exactMatch HGNC:32590 Unspecified SNORA5C +OMIM:613998 skos:exactMatch HGNC:31990 Unspecified NBPF8 +OMIM:613998 skos:exactMatch UMLS:C1826366 Unspecified NBPF8 +OMIM:613998 skos:exactMatch HGNC_symbol:NBPF8 Unspecified NBPF8 +OMIM:611336 skos:exactMatch HGNC_symbol:DNAJB7 Unspecified DNAJB7 +OMIM:611336 skos:exactMatch HGNC:24986 Unspecified DNAJB7 +OMIM:611336 skos:exactMatch UMLS:C1428435 Unspecified DNAJB7 +OMIM:613997 skos:exactMatch HGNC:31989 Unspecified NBPF7 +OMIM:613997 skos:exactMatch UMLS:C1826365 Unspecified NBPF7 +OMIM:613997 skos:exactMatch HGNC_symbol:NBPF7P Unspecified NBPF7 +OMIM:611333 skos:exactMatch HGNC_symbol:SNORA3B Unspecified SNORA3B +OMIM:611333 skos:exactMatch HGNC:32638 Unspecified SNORA3B +OMIM:611333 skos:exactMatch UMLS:C1822858 Unspecified SNORA3B +OMIM:613996 skos:exactMatch UMLS:C1826364 Unspecified NBPF6 +OMIM:613996 skos:exactMatch HGNC_symbol:NBPF6 Unspecified NBPF6 +OMIM:613996 skos:exactMatch HGNC:31988 Unspecified NBPF6 +OMIM:613995 skos:exactMatch HGNC:24491 Unspecified NBPF5 +OMIM:613995 skos:exactMatch UMLS:C1826363 Unspecified NBPF5 +OMIM:613995 skos:exactMatch HGNC_symbol:NBPF5P Unspecified NBPF5 +OMIM:611334 skos:exactMatch HGNC_symbol:SNORA81 Unspecified SNORA81 +OMIM:611334 skos:exactMatch HGNC:32667 Unspecified SNORA81 +OMIM:611334 skos:exactMatch UMLS:C1822896 Unspecified SNORA81 +OMIM:611331 skos:exactMatch HGNC:32660 Unspecified SNORA74B +OMIM:611331 skos:exactMatch HGNC_symbol:SNORA74B Unspecified SNORA74B +OMIM:611331 skos:exactMatch UMLS:C1822889 Unspecified SNORA74B +OMIM:613994 skos:exactMatch UMLS:C1826362 Unspecified NBPF4 +OMIM:613994 skos:exactMatch HGNC_symbol:NBPF4 Unspecified NBPF4 +OMIM:613994 skos:exactMatch HGNC:26550 Unspecified NBPF4 +OMIM:611332 skos:exactMatch HGNC:14888 Unspecified DNAJB6 +OMIM:611332 skos:exactMatch UMLS:C1423027 Unspecified DNAJB6 +OMIM:611332 skos:exactMatch HGNC_symbol:DNAJB6 Unspecified DNAJB6 +OMIM:613993 skos:exactMatch HGNC:21719 Unspecified MYL7 +OMIM:613993 skos:exactMatch UMLS:C1427716 Unspecified MYL7 +OMIM:613993 skos:exactMatch HGNC_symbol:MYL7 Unspecified MYL7 +OMIM:611340 skos:exactMatch HGNC_symbol:ATG4D Unspecified ATG4D +OMIM:611340 skos:exactMatch UMLS:C1825496 Unspecified ATG4D +OMIM:611340 skos:exactMatch HGNC:20789 Unspecified ATG4D +OMIM:611341 skos:exactMatch HGNC_symbol:DNAJB11 Unspecified DNAJB11 +OMIM:611341 skos:exactMatch HGNC:14889 Unspecified DNAJB11 +OMIM:611341 skos:exactMatch UMLS:C1423028 Unspecified DNAJB11 +OMIM:244100 skos:exactMatch UMLS:C1280764 Unspecified jumping frenchmen of maine +OMIM:611328 skos:exactMatch HGNC:14887 Unspecified DNAJB5 +OMIM:611328 skos:exactMatch UMLS:C1423026 Unspecified DNAJB5 +OMIM:611328 skos:exactMatch HGNC_symbol:DNAJB5 Unspecified DNAJB5 +OMIM:611329 skos:exactMatch HGNC:32559 Unspecified SCARNA18 +OMIM:611329 skos:exactMatch UMLS:C1822642 Unspecified SCARNA18 +OMIM:611329 skos:exactMatch HGNC_symbol:SCARNA18 Unspecified SCARNA18 +OMIM:305700 skos:exactMatch ORPHA:399805 Unspecified spermatogenic failure, x-linked, 1 +OMIM:305700 skos:exactMatch UMLS:C1384583 Unspecified spermatogenic failure, x-linked, 1 +OMIM:611326 skos:exactMatch UMLS:C1539078 Unspecified CCPG1 +OMIM:611326 skos:exactMatch HGNC:24227 Unspecified CCPG1 +OMIM:611326 skos:exactMatch HGNC_symbol:CCPG1 Unspecified CCPG1 +OMIM:613989 skos:exactMatch UMLS:C3151443 Unspecified dyskeratosis congenita, autosomal dominant 2 +OMIM:613989 skos:exactMatch UMLS:C3151444 Unspecified dyskeratosis congenita, autosomal dominant 2 +OMIM:611327 skos:exactMatch UMLS:C1423025 Unspecified DNAJB4 +OMIM:611327 skos:exactMatch HGNC:14886 Unspecified DNAJB4 +OMIM:611327 skos:exactMatch HGNC_symbol:DNAJB4 Unspecified DNAJB4 +OMIM:613988 skos:exactMatch UMLS:C3151442 Unspecified dyskeratosis congenita, autosomal recessive 3 +OMIM:611324 skos:exactMatch UMLS:C1425480 Unspecified CLSTN3 +OMIM:611324 skos:exactMatch HGNC_symbol:CLSTN3 Unspecified CLSTN3 +OMIM:611324 skos:exactMatch HGNC:18371 Unspecified CLSTN3 +OMIM:613987 skos:exactMatch UMLS:C3151441 Unspecified dyskeratosis congenita, autosomal recessive 2 +OMIM:613986 skos:exactMatch UMLS:C3151440 Unspecified pituitary hormone deficiency, combined, 6 +OMIM:611325 skos:exactMatch UMLS:C1424967 Unspecified TBRG4 +OMIM:611325 skos:exactMatch HGNC:17443 Unspecified TBRG4 +OMIM:611325 skos:exactMatch HGNC_symbol:TBRG4 Unspecified TBRG4 +OMIM:613985 skos:exactMatch ORPHA:231214 Unspecified beta-thalassemia +OMIM:613985 skos:exactMatch ORPHA:231222 Unspecified beta-thalassemia +OMIM:613985 skos:exactMatch ORPHA:848 Unspecified beta-thalassemia +OMIM:613985 skos:exactMatch UMLS:C0005283 Unspecified beta-thalassemia +OMIM:611322 skos:exactMatch HGNC:14884 Unspecified DNAJA2 +OMIM:611322 skos:exactMatch UMLS:C1423023 Unspecified DNAJA2 +OMIM:611322 skos:exactMatch HGNC_symbol:DNAJA2 Unspecified DNAJA2 +OMIM:613984 skos:exactMatch HGNC_symbol:FANCD2 Unspecified FANCD2 +OMIM:613984 skos:exactMatch HGNC:3585 Unspecified FANCD2 +OMIM:613984 skos:exactMatch UMLS:C1414530 Unspecified FANCD2 +OMIM:613984 skos:exactMatch UMLS:C3160738 Unspecified FANCD2 +OMIM:611323 skos:exactMatch UMLS:C1424969 Unspecified CLSTN2 +OMIM:611323 skos:exactMatch HGNC_symbol:CLSTN2 Unspecified CLSTN2 +OMIM:611323 skos:exactMatch HGNC:17448 Unspecified CLSTN2 +OMIM:613983 skos:exactMatch UMLS:C3151434 Unspecified retinitis pigmentosa 60 +OMIM:611320 skos:exactMatch HGNC_symbol:IFI27L1 Unspecified IFI27L1 +OMIM:611320 skos:exactMatch HGNC:19754 Unspecified IFI27L1 +OMIM:611320 skos:exactMatch UMLS:C1426388 Unspecified IFI27L1 +OMIM:611321 skos:exactMatch UMLS:C1424968 Unspecified CLSTN1 +OMIM:611321 skos:exactMatch HGNC_symbol:CLSTN1 Unspecified CLSTN1 +OMIM:611321 skos:exactMatch HGNC:17447 Unspecified CLSTN1 +OMIM:613982 skos:exactMatch UMLS:C3279564 Unspecified osteogenesis imperfecta, iia 6 +OMIM:613992 skos:exactMatch HGNC_symbol:PPP2R2D Unspecified PPP2R2D +OMIM:613992 skos:exactMatch HGNC:23732 Unspecified PPP2R2D +OMIM:613992 skos:exactMatch UMLS:C1428233 Unspecified PPP2R2D +OMIM:611330 skos:exactMatch HGNC_symbol:SNORA12 Unspecified SNORA12 +OMIM:611330 skos:exactMatch HGNC:32600 Unspecified SNORA12 +OMIM:611330 skos:exactMatch UMLS:C1822822 Unspecified SNORA12 +OMIM:613991 skos:exactMatch UMLS:C1540302 Unspecified CDC42BPG +OMIM:613991 skos:exactMatch HGNC:29829 Unspecified CDC42BPG +OMIM:613991 skos:exactMatch HGNC_symbol:CDC42BPG Unspecified CDC42BPG +OMIM:613990 skos:exactMatch UMLS:C3151445 Unspecified dyskeratosis congenita, autosomal dominant 3 +OMIM:601992 skos:exactMatch UMLS:C1865981 Unspecified friedreich ataxia 2 +OMIM:601993 skos:exactMatch UMLS:C1334867 Unspecified NCOA2 +OMIM:601993 skos:exactMatch HGNC:7669 Unspecified NCOA2 +OMIM:601993 skos:exactMatch HGNC_symbol:NCOA2 Unspecified NCOA2 +OMIM:601994 skos:exactMatch UMLS:C1865980 Unspecified None +OMIM:601995 skos:exactMatch HGNC_symbol:TNR Unspecified TNR +OMIM:601995 skos:exactMatch HGNC:11953 Unspecified TNR +OMIM:601995 skos:exactMatch UMLS:C1420832 Unspecified TNR +OMIM:611319 skos:exactMatch UMLS:C1426387 Unspecified IFI27L2 +OMIM:611319 skos:exactMatch HGNC_symbol:IFI27L2 Unspecified IFI27L2 +OMIM:611319 skos:exactMatch HGNC:19753 Unspecified IFI27L2 +OMIM:601997 skos:exactMatch UMLS:C1332410 Unspecified BID +OMIM:601997 skos:exactMatch HGNC:1050 Unspecified BID +OMIM:601997 skos:exactMatch HGNC_symbol:BID Unspecified BID +OMIM:611317 skos:exactMatch HGNC:30035 Unspecified PIK3R5 +OMIM:611317 skos:exactMatch UMLS:C1538647 Unspecified PIK3R5 +OMIM:611317 skos:exactMatch HGNC_symbol:PIK3R5 Unspecified PIK3R5 +OMIM:601998 skos:exactMatch HGNC_symbol:ESRRA Unspecified ESRRA +OMIM:601998 skos:exactMatch HGNC:3471 Unspecified ESRRA +OMIM:601998 skos:exactMatch UMLS:C1414463 Unspecified ESRRA +OMIM:611318 skos:exactMatch HGNC_symbol:MED12L Unspecified MED12L +OMIM:611318 skos:exactMatch UMLS:C5394350 Unspecified MED12L +OMIM:611318 skos:exactMatch UMLS:C1537678 Unspecified MED12L +OMIM:611318 skos:exactMatch HGNC:16050 Unspecified MED12L +OMIM:613979 skos:exactMatch HGNC:15860 Unspecified PRPF6 +OMIM:613979 skos:exactMatch UMLS:C1826706 Unspecified PRPF6 +OMIM:613979 skos:exactMatch HGNC_symbol:PRPF6 Unspecified PRPF6 +OMIM:601999 skos:exactMatch UMLS:C1334337 Unspecified LHX1 +OMIM:601999 skos:exactMatch HGNC:6593 Unspecified LHX1 +OMIM:601999 skos:exactMatch HGNC_symbol:LHX1 Unspecified LHX1 +OMIM:613978 skos:exactMatch UMLS:C3279561 Unspecified hemoglobin h disease +OMIM:613978 skos:exactMatch UMLS:C3161174 Unspecified hemoglobin h disease +OMIM:611315 skos:exactMatch HGNC:13093 Unspecified ZSCAN20 +OMIM:611315 skos:exactMatch HGNC_symbol:ZSCAN20 Unspecified ZSCAN20 +OMIM:611315 skos:exactMatch UMLS:C1421784 Unspecified ZSCAN20 +OMIM:613977 skos:exactMatch UMLS:C3151421 Unspecified cyanosis, transient neonatal +OMIM:611316 skos:exactMatch HGNC:15595 Unspecified SLC12A8 +OMIM:611316 skos:exactMatch UMLS:C1423604 Unspecified SLC12A8 +OMIM:611316 skos:exactMatch HGNC_symbol:SLC12A8 Unspecified SLC12A8 +OMIM:613976 skos:exactMatch HGNC_symbol:FANCE Unspecified FANCE +OMIM:613976 skos:exactMatch HGNC:3586 Unspecified FANCE +OMIM:613976 skos:exactMatch UMLS:C1414531 Unspecified FANCE +OMIM:611313 skos:exactMatch HGNC:32685 Unspecified ARMS2 +OMIM:611313 skos:exactMatch HGNC_symbol:ARMS2 Unspecified ARMS2 +OMIM:611313 skos:exactMatch UMLS:C1824219 Unspecified ARMS2 +OMIM:611314 skos:exactMatch HGNC_symbol:HMGN2P46 Unspecified HMGN2P46 +OMIM:611314 skos:exactMatch HGNC:26817 Unspecified HMGN2P46 +OMIM:611314 skos:exactMatch UMLS:C1428626 Unspecified HMGN2P46 +OMIM:613975 skos:exactMatch HGNC_symbol:IFI44L Unspecified IFI44L +OMIM:613975 skos:exactMatch UMLS:C1537398 Unspecified IFI44L +OMIM:613975 skos:exactMatch HGNC:17817 Unspecified IFI44L +OMIM:613974 skos:exactMatch UMLS:C2239342 Unspecified DDX60 +OMIM:613974 skos:exactMatch HGNC:25942 Unspecified DDX60 +OMIM:613974 skos:exactMatch HGNC_symbol:DDX60 Unspecified DDX60 +OMIM:613973 skos:exactMatch UMLS:C3147783 Unspecified CGAS +OMIM:613973 skos:exactMatch HGNC:21367 Unspecified CGAS +OMIM:613973 skos:exactMatch HGNC_symbol:CGAS Unspecified CGAS +OMIM:611312 skos:exactMatch HGNC_symbol:CRNN Unspecified CRNN +OMIM:611312 skos:exactMatch HGNC:1230 Unspecified CRNN +OMIM:611312 skos:exactMatch UMLS:C1824796 Unspecified CRNN +OMIM:613972 skos:exactMatch UMLS:C3151417 Unspecified melanoma, cutaneous malignant, susceptibility to, 6 +OMIM:611310 skos:exactMatch HGNC_symbol:PSTK Unspecified PSTK +OMIM:611310 skos:exactMatch UMLS:C1428719 Unspecified PSTK +OMIM:611310 skos:exactMatch HGNC:28578 Unspecified PSTK +OMIM:613981 skos:exactMatch ORPHA:90368 Unspecified hypotrichosis 3 +OMIM:613981 skos:exactMatch UMLS:C3151432 Unspecified hypotrichosis 3 +OMIM:613980 skos:exactMatch UMLS:C3151431 Unspecified atrial fibrillation, familial, 9 +OMIM:303100 skos:exactMatch UMLS:C0344297 Unspecified choroideremia +OMIM:303100 skos:exactMatch UMLS:C0008525 Unspecified choroideremia +OMIM:611388 skos:exactMatch HGNC:16160 Unspecified DNTTIP1 +OMIM:611388 skos:exactMatch HGNC_symbol:DNTTIP1 Unspecified DNTTIP1 +OMIM:611388 skos:exactMatch UMLS:C1424037 Unspecified DNTTIP1 +OMIM:220110 skos:exactMatch ORPHA:254905 Unspecified mitochondrial complex 4 deficiency, nuclear iia 1 +OMIM:220110 skos:exactMatch UMLS:C5435656 Unspecified mitochondrial complex 4 deficiency, nuclear iia 1 +OMIM:220110 skos:exactMatch UMLS:C0268237 Unspecified mitochondrial complex 4 deficiency, nuclear iia 1 +OMIM:611389 skos:exactMatch HGNC:16805 Unspecified PRICKLE4 +OMIM:611389 skos:exactMatch HGNC_symbol:PRICKLE4 Unspecified PRICKLE4 +OMIM:611389 skos:exactMatch UMLS:C1332658 Unspecified PRICKLE4 +OMIM:611386 skos:exactMatch HGNC:15766 Unspecified ADNP +OMIM:611386 skos:exactMatch HGNC_symbol:ADNP Unspecified ADNP +OMIM:611386 skos:exactMatch UMLS:C1423715 Unspecified ADNP +OMIM:220111 skos:exactMatch UMLS:C1857355 Unspecified mitochondrial complex 4 deficiency, nuclear iia 5 +OMIM:220111 skos:exactMatch ORPHA:70472 Unspecified mitochondrial complex 4 deficiency, nuclear iia 5 +OMIM:611387 skos:exactMatch HGNC_symbol:CXCL17 Unspecified CXCL17 +OMIM:611387 skos:exactMatch UMLS:C1969646 Unspecified CXCL17 +OMIM:611387 skos:exactMatch HGNC:19232 Unspecified CXCL17 +OMIM:611395 skos:exactMatch UMLS:C1969643 Unspecified FAM110C +OMIM:611395 skos:exactMatch HGNC_symbol:FAM110C Unspecified FAM110C +OMIM:611395 skos:exactMatch HGNC:33340 Unspecified FAM110C +OMIM:611396 skos:exactMatch UMLS:C1969642 Unspecified ADIG +OMIM:611396 skos:exactMatch HGNC:28606 Unspecified ADIG +OMIM:611396 skos:exactMatch HGNC_symbol:ADIG Unspecified ADIG +OMIM:611393 skos:exactMatch UMLS:C1424065 Unspecified FAM110A +OMIM:611393 skos:exactMatch HGNC_symbol:FAM110A Unspecified FAM110A +OMIM:611393 skos:exactMatch HGNC:16188 Unspecified FAM110A +OMIM:611394 skos:exactMatch HGNC:28587 Unspecified FAM110B +OMIM:611394 skos:exactMatch HGNC_symbol:FAM110B Unspecified FAM110B +OMIM:611394 skos:exactMatch UMLS:C1824280 Unspecified FAM110B +OMIM:611391 skos:exactMatch UMLS:C3808107 Unspecified cataract 33, multiple types +OMIM:611392 skos:exactMatch HGNC:23506 Unspecified ADO +OMIM:611392 skos:exactMatch UMLS:C1428110 Unspecified ADO +OMIM:611392 skos:exactMatch HGNC_symbol:ADO Unspecified ADO +OMIM:611390 skos:exactMatch UMLS:C1969645 Unspecified spastic ataxia 3, autosomal recessive +OMIM:234750 skos:exactMatch UMLS:C0018798 Unspecified heart, malformation of +OMIM:303110 skos:exactMatch UMLS:C3551019 Unspecified chromosome xq21 deletion syndrome +OMIM:271700 skos:exactMatch UMLS:C0796173 Unspecified spondyloperipheral dysplasia +OMIM:222765 skos:exactMatch UMLS:C1857242 Unspecified rhizomelic chondrodysplasia punctata, iia 2 +OMIM:611379 skos:exactMatch HGNC:29284 Unspecified DIP2B +OMIM:611379 skos:exactMatch UMLS:C1824938 Unspecified DIP2B +OMIM:611379 skos:exactMatch HGNC_symbol:DIP2B Unspecified DIP2B +OMIM:611377 skos:exactMatch UMLS:C1969652 Unspecified brachydactyly, iia b2 +OMIM:611377 skos:exactMatch ORPHA:93383 Unspecified brachydactyly, iia b2 +OMIM:611377 skos:exactMatch ORPHA:140908 Unspecified brachydactyly, iia b2 +OMIM:611378 skos:exactMatch UMLS:C1969651 Unspecified macular degeneration, age-related, 9 +OMIM:220100 skos:exactMatch UMLS:C1857388 Unspecified cystinuria +OMIM:220100 skos:exactMatch UMLS:C1857389 Unspecified cystinuria +OMIM:220100 skos:exactMatch UMLS:C1857390 Unspecified cystinuria +OMIM:220100 skos:exactMatch UMLS:C0010691 Unspecified cystinuria +OMIM:611375 skos:exactMatch UMLS:C1537747 Unspecified MIR34C +OMIM:611375 skos:exactMatch HGNC_symbol:MIR34C Unspecified MIR34C +OMIM:611375 skos:exactMatch HGNC:31637 Unspecified MIR34C +OMIM:611376 skos:exactMatch UMLS:C1969653 Unspecified mungan syndrome +OMIM:611384 skos:exactMatch UMLS:C1969647 Unspecified plasmodium falciparum fever episodes quantitative trait locus 1 +OMIM:611382 skos:exactMatch UMLS:C1969648 Unspecified kala-azar, susceptibility to, 3 +OMIM:611383 skos:exactMatch UMLS:C1568249 Unspecified usher syndrome, iia 2d +OMIM:611380 skos:exactMatch UMLS:C1824939 Unspecified DIP2C +OMIM:611380 skos:exactMatch HGNC_symbol:DIP2C Unspecified DIP2C +OMIM:611380 skos:exactMatch HGNC:29150 Unspecified DIP2C +OMIM:611381 skos:exactMatch UMLS:C1969649 Unspecified kala-azar, susceptibility to, 2 +OMIM:611368 skos:exactMatch HGNC:25929 Unspecified MAEL +OMIM:611368 skos:exactMatch HGNC_symbol:MAEL Unspecified MAEL +OMIM:611368 skos:exactMatch UMLS:C1825933 Unspecified MAEL +OMIM:611369 skos:exactMatch UMLS:C1969655 Unspecified lethal congenital contracture syndrome 3 +OMIM:611366 skos:exactMatch HGNC:17590 Unspecified MYG1 +OMIM:611366 skos:exactMatch UMLS:C1425007 Unspecified MYG1 +OMIM:611366 skos:exactMatch HGNC_symbol:MYG1 Unspecified MYG1 +OMIM:611367 skos:exactMatch HGNC_symbol:DNPEP Unspecified DNPEP +OMIM:611367 skos:exactMatch UMLS:C1414125 Unspecified DNPEP +OMIM:611367 skos:exactMatch HGNC:2981 Unspecified DNPEP +OMIM:611364 skos:exactMatch UMLS:C1969656 Unspecified myoclonic epilepsy, juvenile, susceptibility to, 4 +OMIM:611365 skos:exactMatch HGNC_symbol:TMEM183BP Unspecified TMEM183B +OMIM:611365 skos:exactMatch HGNC:33205 Unspecified TMEM183B +OMIM:611365 skos:exactMatch UMLS:C1823448 Unspecified TMEM183B +OMIM:611373 skos:exactMatch UMLS:C1825807 Unspecified LEAP2 +OMIM:611373 skos:exactMatch HGNC:29571 Unspecified LEAP2 +OMIM:611373 skos:exactMatch HGNC_symbol:LEAP2 Unspecified LEAP2 +OMIM:611374 skos:exactMatch HGNC_symbol:MIR34B Unspecified MIR34B +OMIM:611374 skos:exactMatch UMLS:C1537746 Unspecified MIR34B +OMIM:611374 skos:exactMatch HGNC:31636 Unspecified MIR34B +OMIM:258700 skos:exactMatch UMLS:C0520711 Unspecified opticocochleodentate degeneration +OMIM:611371 skos:exactMatch HGNC_symbol:ZNF653 Unspecified ZNF653 +OMIM:611371 skos:exactMatch HGNC:25196 Unspecified ZNF653 +OMIM:611371 skos:exactMatch UMLS:C1538221 Unspecified ZNF653 +OMIM:611372 skos:exactMatch HGNC_symbol:SMAP1 Unspecified SMAP1 +OMIM:611372 skos:exactMatch UMLS:C1426301 Unspecified SMAP1 +OMIM:611372 skos:exactMatch HGNC:19651 Unspecified SMAP1 +OMIM:611370 skos:exactMatch UMLS:C1969654 Unspecified FGGY +OMIM:611370 skos:exactMatch HGNC:25610 Unspecified FGGY +OMIM:611370 skos:exactMatch HGNC_symbol:FGGY Unspecified FGGY +OMIM:611359 skos:exactMatch HGNC:25990 Unspecified AMBRA1 +OMIM:611359 skos:exactMatch UMLS:C1969662 Unspecified AMBRA1 +OMIM:611359 skos:exactMatch HGNC_symbol:AMBRA1 Unspecified AMBRA1 +OMIM:219150 skos:exactMatch UMLS:C0268354 Unspecified cutis laxa, autosomal recessive, iia 3a +OMIM:611357 skos:exactMatch UMLS:C1539443 Unspecified TENT5A +OMIM:611357 skos:exactMatch HGNC_symbol:TENT5A Unspecified TENT5A +OMIM:611357 skos:exactMatch HGNC:18345 Unspecified TENT5A +OMIM:611358 skos:exactMatch HGNC_symbol:RNF135 Unspecified RNF135 +OMIM:611358 skos:exactMatch HGNC:21158 Unspecified RNF135 +OMIM:611358 skos:exactMatch UMLS:C1427373 Unspecified RNF135 +OMIM:220120 skos:exactMatch UMLS:C0342765 Unspecified d-glyceric aciduria +OMIM:611355 skos:exactMatch UMLS:C1825612 Unspecified INTS12 +OMIM:611355 skos:exactMatch HGNC:25067 Unspecified INTS12 +OMIM:611355 skos:exactMatch HGNC_symbol:INTS12 Unspecified INTS12 +OMIM:611356 skos:exactMatch HGNC_symbol:GKAP1 Unspecified GKAP1 +OMIM:611356 skos:exactMatch UMLS:C1539570 Unspecified GKAP1 +OMIM:611356 skos:exactMatch HGNC:17496 Unspecified GKAP1 +OMIM:138900 skos:exactMatch UMLS:C1841837 Unspecified uric acid concentration, serum, quantitative trait locus 1 +OMIM:611353 skos:exactMatch UMLS:C1825611 Unspecified INTS10 +OMIM:611353 skos:exactMatch HGNC_symbol:INTS10 Unspecified INTS10 +OMIM:611353 skos:exactMatch HGNC:25548 Unspecified INTS10 +OMIM:611354 skos:exactMatch UMLS:C1824786 Unspecified CPSF3L +OMIM:611354 skos:exactMatch HGNC:26052 Unspecified CPSF3L +OMIM:611354 skos:exactMatch HGNC_symbol:INTS11 Unspecified CPSF3L +OMIM:611362 skos:exactMatch HGNC_symbol:UBE2Z Unspecified UBE2Z +OMIM:611362 skos:exactMatch UMLS:C1823577 Unspecified UBE2Z +OMIM:611362 skos:exactMatch HGNC:25847 Unspecified UBE2Z +OMIM:611363 skos:exactMatch UMLS:C1969657 Unspecified atrial septal defect 4 +OMIM:611360 skos:exactMatch UMLS:C1836861 Unspecified FANCI +OMIM:611360 skos:exactMatch HGNC:25568 Unspecified FANCI +OMIM:611360 skos:exactMatch HGNC_symbol:FANCI Unspecified FANCI +OMIM:611360 skos:exactMatch UMLS:C1825278 Unspecified FANCI +OMIM:611361 skos:exactMatch HGNC_symbol:UBA6 Unspecified UBA6 +OMIM:611361 skos:exactMatch UMLS:C1823564 Unspecified UBA6 +OMIM:611361 skos:exactMatch HGNC:25581 Unspecified UBA6 +OMIM:222730 skos:exactMatch UMLS:C1857253 Unspecified dicarboxylic aminoaciduria +OMIM:246700 skos:exactMatch UMLS:C0795956 Unspecified chylomicron retention disease +OMIM:210745 skos:exactMatch UMLS:C1859432 Unspecified blepharophimosis with ptosis, syndactyly, and short stature +OMIM:210740 skos:exactMatch UMLS:C0342284 Unspecified bangstad syndrome +OMIM:138920 skos:exactMatch UMLS:C1841836 Unspecified granddad syndrome +OMIM:209770 skos:exactMatch UMLS:C1859591 Unspecified aural atresia, multiple congenital anomalies, and mental retardation +OMIM:234700 skos:exactMatch UMLS:C0149530 Unspecified heart block, congenital +OMIM:210750 skos:exactMatch UMLS:C2673866 Unspecified skin/hair/eye pigmentation, variation in, 6 +OMIM:138930 skos:exactMatch UMLS:C1841835 Unspecified grant syndrome +OMIM:219100 skos:exactMatch UMLS:C0268351 Unspecified cutis laxa, autosomal recessive, iia 1a +OMIM:151900 skos:exactMatch UMLS:C3489413 Unspecified lipomatosis, multiple +OMIM:151900 skos:exactMatch UMLS:C1275273 Unspecified lipomatosis, multiple +OMIM:222745 skos:exactMatch HGNC:2753 Unspecified DECR1 +OMIM:222745 skos:exactMatch HGNC_symbol:DECR1 Unspecified DECR1 +OMIM:222745 skos:exactMatch UMLS:C1413969 Unspecified DECR1 +OMIM:222748 skos:exactMatch ORPHA:38874 Unspecified dihydropyrimidinase deficiency +OMIM:222748 skos:exactMatch UMLS:C0342803 Unspecified dihydropyrimidinase deficiency +OMIM:222748 skos:exactMatch UMLS:C3495551 Unspecified dihydropyrimidinase deficiency +OMIM:138945 skos:exactMatch HGNC_symbol:GRN Unspecified GRN +OMIM:138945 skos:exactMatch UMLS:C4016134 Unspecified GRN +OMIM:138945 skos:exactMatch UMLS:C3539123 Unspecified GRN +OMIM:138945 skos:exactMatch UMLS:C0282513 Unspecified GRN +OMIM:138945 skos:exactMatch HGNC:4601 Unspecified GRN +OMIM:138945 skos:exactMatch UMLS:C0338451 Unspecified GRN +OMIM:138945 skos:exactMatch UMLS:C1415311 Unspecified GRN +OMIM:611399 skos:exactMatch UMLS:C1822655 Unspecified SCLT1 +OMIM:611399 skos:exactMatch HGNC:26406 Unspecified SCLT1 +OMIM:611399 skos:exactMatch HGNC_symbol:SCLT1 Unspecified SCLT1 +OMIM:611397 skos:exactMatch HGNC:29364 Unspecified TANC1 +OMIM:611397 skos:exactMatch HGNC_symbol:TANC1 Unspecified TANC1 +OMIM:611397 skos:exactMatch UMLS:C1823226 Unspecified TANC1 +OMIM:611398 skos:exactMatch HGNC_symbol:GAS2L2 Unspecified GAS2L2 +OMIM:611398 skos:exactMatch UMLS:C1539549 Unspecified GAS2L2 +OMIM:611398 skos:exactMatch HGNC:24846 Unspecified GAS2L2 +OMIM:163910 skos:exactMatch HGNC_symbol:HMGN2 Unspecified HMGN2 +OMIM:163910 skos:exactMatch HGNC:4986 Unspecified HMGN2 +OMIM:163910 skos:exactMatch UMLS:C1333913 Unspecified HMGN2 +OMIM:210700 skos:exactMatch UMLS:C1859468 Unspecified microcephalic primordial dwarfism, montreal iia +OMIM:136300 skos:exactMatch UMLS:C0343108 Unspecified flynn-aird syndrome +OMIM:138965 skos:exactMatch UMLS:C1332820 Unspecified CXCL6 +OMIM:138965 skos:exactMatch HGNC:10643 Unspecified CXCL6 +OMIM:138965 skos:exactMatch HGNC_symbol:CXCL6 Unspecified CXCL6 +OMIM:138960 skos:exactMatch UMLS:C1332791 Unspecified CSF2 +OMIM:138960 skos:exactMatch HGNC:2434 Unspecified CSF2 +OMIM:138960 skos:exactMatch HGNC_symbol:CSF2 Unspecified CSF2 +OMIM:210710 skos:exactMatch ORPHA:2636 Unspecified microcephalic osteodysplastic primordial dwarfism, iia 1 +OMIM:210710 skos:exactMatch UMLS:C1859452 Unspecified microcephalic osteodysplastic primordial dwarfism, iia 1 +OMIM:163905 skos:exactMatch UMLS:C1333908 Unspecified HMGB1 +OMIM:163905 skos:exactMatch HGNC_symbol:HMGB1 Unspecified HMGB1 +OMIM:163905 skos:exactMatch HGNC:4983 Unspecified HMGB1 +OMIM:163906 skos:exactMatch HGNC:5000 Unspecified HMGB2 +OMIM:163906 skos:exactMatch UMLS:C1333909 Unspecified HMGB2 +OMIM:163906 skos:exactMatch HGNC_symbol:HMGB2 Unspecified HMGB2 +OMIM:138970 skos:exactMatch UMLS:C1332793 Unspecified CSF3 +OMIM:138970 skos:exactMatch HGNC:2438 Unspecified CSF3 +OMIM:138970 skos:exactMatch HGNC_symbol:CSF3 Unspecified CSF3 +OMIM:138972 skos:exactMatch HGNC_symbol:CEBPG Unspecified CEBPG +OMIM:138972 skos:exactMatch HGNC:1837 Unspecified CEBPG +OMIM:138972 skos:exactMatch UMLS:C1413325 Unspecified CEBPG +OMIM:138971 skos:exactMatch UMLS:C1332792 Unspecified CSF3R +OMIM:138971 skos:exactMatch HGNC:2439 Unspecified CSF3R +OMIM:138971 skos:exactMatch HGNC_symbol:CSF3R Unspecified CSF3R +OMIM:210720 skos:exactMatch UMLS:C0432246 Unspecified microcephalic osteodysplastic primordial dwarfism, iia 2 +OMIM:222700 skos:exactMatch UMLS:C0268647 Unspecified lysinuric protein intolerance +OMIM:163920 skos:exactMatch HGNC_symbol:HMGN1 Unspecified HMGN1 +OMIM:163920 skos:exactMatch HGNC:4984 Unspecified HMGN1 +OMIM:163920 skos:exactMatch UMLS:C1333912 Unspecified HMGN1 +OMIM:138981 skos:exactMatch HGNC:2436 Unspecified CSF2RB +OMIM:138981 skos:exactMatch HGNC_symbol:CSF2RB Unspecified CSF2RB +OMIM:138981 skos:exactMatch UMLS:C1332790 Unspecified CSF2RB +OMIM:148300 skos:exactMatch UMLS:C1835677 Unspecified keratoconus 1 +OMIM:210730 skos:exactMatch UMLS:C1859439 Unspecified microcephalic osteodysplastic primordial dwarfism, iia 3 +OMIM:175900 skos:exactMatch UMLS:C1867981 Unspecified porokeratosis 3, multiple types +OMIM:210900 skos:exactMatch UMLS:C0005859 Unspecified bloom syndrome +OMIM:210900 skos:exactMatch UMLS:C4746755 Unspecified bloom syndrome +OMIM:161400 skos:exactMatch UMLS:C1834372 Unspecified narcolepsy 1 +OMIM:161400 skos:exactMatch UMLS:C0007384 Unspecified narcolepsy 1 +OMIM:209920 skos:exactMatch UMLS:C2931418 Unspecified bare lymphocyte syndrome, iia 2 +OMIM:209920 skos:exactMatch UMLS:C1859534 Unspecified bare lymphocyte syndrome, iia 2 +OMIM:209920 skos:exactMatch UMLS:C1859538 Unspecified bare lymphocyte syndrome, iia 2 +OMIM:209920 skos:exactMatch UMLS:C1859537 Unspecified bare lymphocyte syndrome, iia 2 +OMIM:209920 skos:exactMatch UMLS:C1859536 Unspecified bare lymphocyte syndrome, iia 2 +OMIM:209920 skos:exactMatch UMLS:C1859535 Unspecified bare lymphocyte syndrome, iia 2 +OMIM:124450 skos:exactMatch HGNC:2727 Unspecified DDO +OMIM:124450 skos:exactMatch HGNC_symbol:DDO Unspecified DDO +OMIM:124450 skos:exactMatch UMLS:C1413948 Unspecified DDO +OMIM:136470 skos:exactMatch HGNC:3971 Unspecified FST +OMIM:136470 skos:exactMatch UMLS:C2986382 Unspecified FST +OMIM:136470 skos:exactMatch HGNC_symbol:FST Unspecified FST +OMIM:136470 skos:exactMatch UMLS:C1414830 Unspecified FST +OMIM:173410 skos:exactMatch UMLS:C1335202 Unspecified PDGFRB +OMIM:173410 skos:exactMatch UMLS:C4551572 Unspecified PDGFRB +OMIM:173410 skos:exactMatch HGNC:8804 Unspecified PDGFRB +OMIM:173410 skos:exactMatch HGNC_symbol:PDGFRB Unspecified PDGFRB +OMIM:173410 skos:exactMatch UMLS:C4225270 Unspecified PDGFRB +OMIM:173410 skos:exactMatch UMLS:C3554321 Unspecified PDGFRB +OMIM:173410 skos:exactMatch UMLS:C1866182 Unspecified PDGFRB +OMIM:136480 skos:exactMatch UMLS:C1850996 Unspecified fourth cranial nerve palsy, familial congenital +OMIM:112450 skos:exactMatch UMLS:C1862162 Unspecified brachydactyly, preaxial, with hallux varus and thumb abduction +OMIM:222900 skos:exactMatch UMLS:C1283620 Unspecified sucrase-isomaltase deficiency, congenital +OMIM:209950 skos:exactMatch UMLS:C4011949 Unspecified immunodeficiency 27a +OMIM:209950 skos:exactMatch ORPHA:319569 Unspecified immunodeficiency 27a +OMIM:209950 skos:exactMatch ORPHA:99898 Unspecified immunodeficiency 27a +OMIM:173400 skos:exactMatch UMLS:C1868263 Unspecified platelet aggregation, spontaneous +OMIM:112440 skos:exactMatch UMLS:C1862163 Unspecified brachydactyly, combined B and e types +OMIM:173430 skos:exactMatch HGNC:8799 Unspecified PDGFA +OMIM:173430 skos:exactMatch UMLS:C1335200 Unspecified PDGFA +OMIM:173430 skos:exactMatch HGNC_symbol:PDGFA Unspecified PDGFA +OMIM:185430 skos:exactMatch HGNC:2095 Unspecified CLU +OMIM:185430 skos:exactMatch HGNC_symbol:CLU Unspecified CLU +OMIM:185430 skos:exactMatch UMLS:C1413514 Unspecified CLU +OMIM:112430 skos:exactMatch UMLS:C1862169 Unspecified long-thumb brachydactyly syndrome +OMIM:173420 skos:exactMatch UMLS:C1868258 Unspecified platelet disorder, undefined +OMIM:161470 skos:exactMatch UMLS:C1834371 Unspecified nasal alar collapse, bilateral +OMIM:124400 skos:exactMatch UMLS:C1852294 Unspecified darwinian tubercle of pinna +OMIM:173450 skos:exactMatch UMLS:C1868256 Unspecified platelet factor 3 deficiency +OMIM:112410 skos:exactMatch UMLS:C1862170 Unspecified hypertension and brachydactyly syndrome +OMIM:209900 skos:exactMatch UMLS:C2936862 Unspecified bardet-biedl syndrome 1 +OMIM:209901 skos:exactMatch UMLS:C1412746 Unspecified BBS1 +OMIM:209901 skos:exactMatch HGNC_symbol:BBS1 Unspecified BBS1 +OMIM:209901 skos:exactMatch HGNC:966 Unspecified BBS1 +OMIM:173445 skos:exactMatch HGNC:8823 Unspecified PECAM1 +OMIM:173445 skos:exactMatch HGNC_symbol:PECAM1 Unspecified PECAM1 +OMIM:173445 skos:exactMatch UMLS:C1335205 Unspecified PECAM1 +OMIM:611508 skos:exactMatch UMLS:C1425791 Unspecified CAMTA2 +OMIM:611508 skos:exactMatch HGNC:18807 Unspecified CAMTA2 +OMIM:611508 skos:exactMatch HGNC_symbol:CAMTA2 Unspecified CAMTA2 +OMIM:611509 skos:exactMatch HGNC_symbol:CENPN Unspecified CENPN +OMIM:611509 skos:exactMatch HGNC:30873 Unspecified CENPN +OMIM:611509 skos:exactMatch UMLS:C1824703 Unspecified CENPN +OMIM:611506 skos:exactMatch HGNC_symbol:CENPQ Unspecified CENPQ +OMIM:611506 skos:exactMatch HGNC:21347 Unspecified CENPQ +OMIM:611506 skos:exactMatch UMLS:C1824706 Unspecified CENPQ +OMIM:611507 skos:exactMatch HGNC:24212 Unspecified CISD2 +OMIM:611507 skos:exactMatch UMLS:C1969088 Unspecified CISD2 +OMIM:611507 skos:exactMatch HGNC_symbol:CISD2 Unspecified CISD2 +OMIM:611504 skos:exactMatch HGNC_symbol:CENPO Unspecified CENPO +OMIM:611504 skos:exactMatch UMLS:C1824704 Unspecified CENPO +OMIM:611504 skos:exactMatch HGNC:28152 Unspecified CENPO +OMIM:611505 skos:exactMatch HGNC_symbol:CENPP Unspecified CENPP +OMIM:611505 skos:exactMatch UMLS:C1824705 Unspecified CENPP +OMIM:611505 skos:exactMatch HGNC:32933 Unspecified CENPP +OMIM:611502 skos:exactMatch HGNC:29479 Unspecified CENPK +OMIM:611502 skos:exactMatch UMLS:C1824701 Unspecified CENPK +OMIM:611502 skos:exactMatch HGNC_symbol:CENPK Unspecified CENPK +OMIM:611503 skos:exactMatch UMLS:C1824702 Unspecified CENPL +OMIM:611503 skos:exactMatch HGNC:17879 Unspecified CENPL +OMIM:611503 skos:exactMatch HGNC_symbol:CENPL Unspecified CENPL +OMIM:611500 skos:exactMatch HGNC_symbol:MIR219A1 Unspecified MIR219-1 +OMIM:611500 skos:exactMatch UMLS:C1537856 Unspecified MIR219-1 +OMIM:611500 skos:exactMatch HGNC:31597 Unspecified MIR219-1 +OMIM:611501 skos:exactMatch HGNC:18806 Unspecified CAMTA1 +OMIM:611501 skos:exactMatch HGNC_symbol:CAMTA1 Unspecified CAMTA1 +OMIM:611501 skos:exactMatch UMLS:C1425790 Unspecified CAMTA1 +OMIM:185460 skos:exactMatch UMLS:C1861437 Unspecified sulfhemoglobinemia, congenital +OMIM:173470 skos:exactMatch UMLS:C1416498 Unspecified ITGB3 +OMIM:173470 skos:exactMatch HGNC_symbol:ITGB3 Unspecified ITGB3 +OMIM:173470 skos:exactMatch HGNC:6156 Unspecified ITGB3 +OMIM:161480 skos:exactMatch UMLS:C0339851 Unspecified nasal bones, absence of +OMIM:185470 skos:exactMatch HGNC_symbol:SDHB Unspecified SDHB +OMIM:185470 skos:exactMatch UMLS:C1419907 Unspecified SDHB +OMIM:185470 skos:exactMatch HGNC:10681 Unspecified SDHB +OMIM:173461 skos:exactMatch HGNC:8862 Unspecified PF4V1 +OMIM:173461 skos:exactMatch HGNC_symbol:PF4V1 Unspecified PF4V1 +OMIM:173461 skos:exactMatch UMLS:C1418480 Unspecified PF4V1 +OMIM:173460 skos:exactMatch UMLS:C1335206 Unspecified PF4 +OMIM:173460 skos:exactMatch HGNC:8861 Unspecified PF4 +OMIM:173460 skos:exactMatch HGNC_symbol:PF4 Unspecified PF4 +OMIM:185440 skos:exactMatch UMLS:C1420442 Unspecified ST2 +OMIM:173490 skos:exactMatch UMLS:C1335201 Unspecified PDGFRA +OMIM:173490 skos:exactMatch HGNC:8803 Unspecified PDGFRA +OMIM:173490 skos:exactMatch HGNC_symbol:PDGFRA Unspecified PDGFRA +OMIM:173490 skos:exactMatch UMLS:C1868218 Unspecified PDGFRA +OMIM:173490 skos:exactMatch UMLS:C1868219 Unspecified PDGFRA +OMIM:305550 skos:exactMatch UMLS:C1844560 Unspecified fingerprint body myopathy +OMIM:611548 skos:exactMatch UMLS:C1969060 Unspecified premature ovarian failure 5 +OMIM:611549 skos:exactMatch UMLS:C1969059 Unspecified NALCN +OMIM:611549 skos:exactMatch HGNC_symbol:NALCN Unspecified NALCN +OMIM:611549 skos:exactMatch HGNC:19082 Unspecified NALCN +OMIM:611546 skos:exactMatch HGNC_symbol:ELOVL6 Unspecified ELOVL6 +OMIM:611546 skos:exactMatch HGNC:15829 Unspecified ELOVL6 +OMIM:611546 skos:exactMatch UMLS:C1423759 Unspecified ELOVL6 +OMIM:611547 skos:exactMatch UMLS:C1969061 Unspecified stature quantitative trait locus 9 +OMIM:611544 skos:exactMatch UMLS:C1969062 Unspecified cataract 17, multiple types +OMIM:611544 skos:exactMatch UMLS:C3888124 Unspecified cataract 17, multiple types +OMIM:611545 skos:exactMatch HGNC:2648 Unspecified CYP4F8 +OMIM:611545 skos:exactMatch HGNC_symbol:CYP4F8 Unspecified CYP4F8 +OMIM:611545 skos:exactMatch UMLS:C1413891 Unspecified CYP4F8 +OMIM:611542 skos:exactMatch HGNC:714 Unspecified ARSB +OMIM:611542 skos:exactMatch UMLS:C1412554 Unspecified ARSB +OMIM:611542 skos:exactMatch UMLS:C4017254 Unspecified ARSB +OMIM:611542 skos:exactMatch UMLS:C4017252 Unspecified ARSB +OMIM:611542 skos:exactMatch UMLS:C4017253 Unspecified ARSB +OMIM:611542 skos:exactMatch UMLS:C0026709 Unspecified ARSB +OMIM:611542 skos:exactMatch HGNC_symbol:ARSB Unspecified ARSB +OMIM:611543 skos:exactMatch UMLS:C1969063 Unspecified cavitary optic disc anomalies +OMIM:611540 skos:exactMatch HGNC:25412 Unspecified SGIP1 +OMIM:611540 skos:exactMatch UMLS:C1539762 Unspecified SGIP1 +OMIM:611540 skos:exactMatch HGNC_symbol:SGIP1 Unspecified SGIP1 +OMIM:611541 skos:exactMatch HGNC:20073 Unspecified SNX27 +OMIM:611541 skos:exactMatch UMLS:C1426661 Unspecified SNX27 +OMIM:611541 skos:exactMatch HGNC_symbol:SNX27 Unspecified SNX27 +OMIM:611550 skos:exactMatch UMLS:C1425993 Unspecified NCR3 +OMIM:611550 skos:exactMatch HGNC:19077 Unspecified NCR3 +OMIM:611550 skos:exactMatch HGNC_symbol:NCR3 Unspecified NCR3 +OMIM:611539 skos:exactMatch HGNC:3804 Unspecified FOXD3 +OMIM:611539 skos:exactMatch UMLS:C1414672 Unspecified FOXD3 +OMIM:611539 skos:exactMatch HGNC_symbol:FOXD3 Unspecified FOXD3 +OMIM:611537 skos:exactMatch UMLS:C1423800 Unspecified CTNNBL1 +OMIM:611537 skos:exactMatch HGNC_symbol:CTNNBL1 Unspecified CTNNBL1 +OMIM:611537 skos:exactMatch HGNC:15879 Unspecified CTNNBL1 +OMIM:611538 skos:exactMatch HGNC_symbol:OR7D4 Unspecified OR7D4 +OMIM:611538 skos:exactMatch HGNC:8380 Unspecified OR7D4 +OMIM:611538 skos:exactMatch UMLS:C1418113 Unspecified OR7D4 +OMIM:611535 skos:exactMatch UMLS:C0005586 Unspecified major affective disorder 5 +OMIM:611535 skos:exactMatch UMLS:C1970944 Unspecified major affective disorder 5 +OMIM:611536 skos:exactMatch UMLS:C1970945 Unspecified major affective disorder 6 +OMIM:611533 skos:exactMatch HGNC:21040 Unspecified NOL7 +OMIM:611533 skos:exactMatch UMLS:C1427266 Unspecified NOL7 +OMIM:611533 skos:exactMatch HGNC_symbol:NOL7 Unspecified NOL7 +OMIM:611534 skos:exactMatch UMLS:C1428064 Unspecified NOL8 +OMIM:611534 skos:exactMatch HGNC_symbol:NOL8 Unspecified NOL8 +OMIM:611534 skos:exactMatch HGNC:23387 Unspecified NOL8 +OMIM:611531 skos:exactMatch HGNC_symbol:EMG1 Unspecified EMG1 +OMIM:611531 skos:exactMatch HGNC:16912 Unspecified EMG1 +OMIM:611531 skos:exactMatch UMLS:C1825050 Unspecified EMG1 +OMIM:611532 skos:exactMatch HGNC:19910 Unspecified NOL6 +OMIM:611532 skos:exactMatch HGNC_symbol:NOL6 Unspecified NOL6 +OMIM:611532 skos:exactMatch UMLS:C1426524 Unspecified NOL6 +OMIM:611530 skos:exactMatch HGNC:16058 Unspecified NLN +OMIM:611530 skos:exactMatch HGNC_symbol:NLN Unspecified NLN +OMIM:611530 skos:exactMatch UMLS:C1423943 Unspecified NLN +OMIM:268250 skos:exactMatch UMLS:C1849382 Unspecified rhizomelic syndrome +OMIM:611528 skos:exactMatch UMLS:C1969081 Unspecified arrhythmogenic right ventricular dysplasia, familial, 12 +OMIM:611529 skos:exactMatch UMLS:C1423637 Unspecified CYP2S1 +OMIM:611529 skos:exactMatch HGNC_symbol:CYP2S1 Unspecified CYP2S1 +OMIM:611529 skos:exactMatch HGNC:15654 Unspecified CYP2S1 +OMIM:611526 skos:exactMatch HGNC_symbol:NOP14 Unspecified NOP14 +OMIM:611526 skos:exactMatch HGNC:16821 Unspecified NOP14 +OMIM:611526 skos:exactMatch UMLS:C1424572 Unspecified NOP14 +OMIM:611527 skos:exactMatch HGNC:24244 Unspecified NHEDC1 +OMIM:611527 skos:exactMatch UMLS:C1969082 Unspecified NHEDC1 +OMIM:611527 skos:exactMatch HGNC_symbol:SLC9B1 Unspecified NHEDC1 +OMIM:611524 skos:exactMatch HGNC:21406 Unspecified RARS2 +OMIM:611524 skos:exactMatch UMLS:C1427551 Unspecified RARS2 +OMIM:611524 skos:exactMatch HGNC_symbol:RARS2 Unspecified RARS2 +OMIM:611525 skos:exactMatch UMLS:C1422411 Unspecified POLD4 +OMIM:611525 skos:exactMatch HGNC_symbol:POLD4 Unspecified POLD4 +OMIM:611525 skos:exactMatch HGNC:14106 Unspecified POLD4 +OMIM:185480 skos:exactMatch UMLS:C0796204 Unspecified suprabulbar paresis, congenital +OMIM:611522 skos:exactMatch UMLS:C1969085 Unspecified intraocular pressure quantitative trait locus +OMIM:611523 skos:exactMatch UMLS:C1969084 Unspecified pontocerebellar hypoplasia, iia 6 +OMIM:611520 skos:exactMatch HGNC_symbol:POLDIP3 Unspecified POLDIP3 +OMIM:611520 skos:exactMatch HGNC:23782 Unspecified POLDIP3 +OMIM:611520 skos:exactMatch UMLS:C1428255 Unspecified POLDIP3 +OMIM:611521 skos:exactMatch UMLS:C1969086 Unspecified immunodeficiency 35 +OMIM:268240 skos:exactMatch UMLS:C1849383 Unspecified rheumatic fever-related antigen +OMIM:611519 skos:exactMatch HGNC_symbol:POLDIP2 Unspecified POLDIP2 +OMIM:611519 skos:exactMatch HGNC:23781 Unspecified POLDIP2 +OMIM:611519 skos:exactMatch UMLS:C1428254 Unspecified POLDIP2 +OMIM:611517 skos:exactMatch HGNC_symbol:CYP4F11 Unspecified CYP4F11 +OMIM:611517 skos:exactMatch UMLS:C1421912 Unspecified CYP4F11 +OMIM:611517 skos:exactMatch HGNC:13265 Unspecified CYP4F11 +OMIM:611518 skos:exactMatch HGNC_symbol:DOCK10 Unspecified DOCK10 +OMIM:611518 skos:exactMatch HGNC:23479 Unspecified DOCK10 +OMIM:611518 skos:exactMatch UMLS:C1428093 Unspecified DOCK10 +OMIM:268220 skos:exactMatch UMLS:C0206655 Unspecified rhabdomyosarcoma 2 +OMIM:611515 skos:exactMatch UMLS:C1969087 Unspecified febrile seizures, familial, 7 +OMIM:611516 skos:exactMatch HGNC:18317 Unspecified NICN1 +OMIM:611516 skos:exactMatch HGNC_symbol:NICN1 Unspecified NICN1 +OMIM:611516 skos:exactMatch UMLS:C1425444 Unspecified NICN1 +OMIM:611513 skos:exactMatch UMLS:C1422203 Unspecified NEUROD6 +OMIM:611513 skos:exactMatch HGNC_symbol:NEUROD6 Unspecified NEUROD6 +OMIM:611513 skos:exactMatch HGNC:13804 Unspecified NEUROD6 +OMIM:185490 skos:exactMatch HGNC_symbol:SOD3 Unspecified SOD3 +OMIM:185490 skos:exactMatch HGNC:11181 Unspecified SOD3 +OMIM:185490 skos:exactMatch UMLS:C1420308 Unspecified SOD3 +OMIM:611514 skos:exactMatch HGNC_symbol:WLS Unspecified WLS +OMIM:611514 skos:exactMatch UMLS:C1825410 Unspecified WLS +OMIM:611514 skos:exactMatch HGNC:30238 Unspecified WLS +OMIM:611511 skos:exactMatch HGNC:21348 Unspecified MLF1IP +OMIM:611511 skos:exactMatch UMLS:C1427498 Unspecified MLF1IP +OMIM:611511 skos:exactMatch HGNC_symbol:CENPU Unspecified MLF1IP +OMIM:611512 skos:exactMatch HGNC_symbol:KDM3A Unspecified KDM3A +OMIM:611512 skos:exactMatch UMLS:C1427145 Unspecified KDM3A +OMIM:611512 skos:exactMatch HGNC:20815 Unspecified KDM3A +OMIM:611510 skos:exactMatch UMLS:C1824707 Unspecified CENPT +OMIM:611510 skos:exactMatch HGNC_symbol:CENPT Unspecified CENPT +OMIM:611510 skos:exactMatch HGNC:25787 Unspecified CENPT +OMIM:305600 skos:exactMatch UMLS:C0016395 Unspecified focal dermal hypoplasia +OMIM:305600 skos:exactMatch ORPHA:2092 Unspecified focal dermal hypoplasia +OMIM:268210 skos:exactMatch UMLS:C1849385 Unspecified rhabdomyosarcoma, embryonal, 1 +OMIM:611469 skos:exactMatch UMLS:C1969113 Unspecified colorectal cancer, susceptibility to, 2 +OMIM:611467 skos:exactMatch HGNC_symbol:GBP5 Unspecified None +OMIM:611467 skos:exactMatch HGNC:19895 Unspecified None +OMIM:611467 skos:exactMatch UMLS:C1426511 Unspecified None +OMIM:611468 skos:exactMatch UMLS:C1538322 Unspecified BDNFAS +OMIM:611468 skos:exactMatch HGNC_symbol:BDNF-AS Unspecified BDNFAS +OMIM:611468 skos:exactMatch HGNC:20608 Unspecified BDNFAS +OMIM:611465 skos:exactMatch UMLS:C1969115 Unspecified gallbladder disease 4 +OMIM:611466 skos:exactMatch HGNC_symbol:PLEKHM1 Unspecified PLEKHM1 +OMIM:611466 skos:exactMatch HGNC:29017 Unspecified PLEKHM1 +OMIM:611466 skos:exactMatch UMLS:C1428775 Unspecified PLEKHM1 +OMIM:611463 skos:exactMatch HGNC:23160 Unspecified SAT2 +OMIM:611463 skos:exactMatch HGNC_symbol:SAT2 Unspecified SAT2 +OMIM:611463 skos:exactMatch UMLS:C1427956 Unspecified SAT2 +OMIM:611464 skos:exactMatch UMLS:C1537933 Unspecified MON1A +OMIM:611464 skos:exactMatch HGNC:28207 Unspecified MON1A +OMIM:611464 skos:exactMatch HGNC_symbol:MON1A Unspecified MON1A +OMIM:611472 skos:exactMatch HGNC_symbol:MBD5 Unspecified MBD5 +OMIM:611472 skos:exactMatch HGNC:20444 Unspecified MBD5 +OMIM:611472 skos:exactMatch UMLS:C1426942 Unspecified MBD5 +OMIM:611473 skos:exactMatch UMLS:C1969111 Unspecified ESRG +OMIM:611473 skos:exactMatch HGNC:39079 Unspecified ESRG +OMIM:611473 skos:exactMatch HGNC_symbol:ESRG Unspecified ESRG +OMIM:611470 skos:exactMatch HGNC:21016 Unspecified GLULD1 +OMIM:611470 skos:exactMatch UMLS:C1427244 Unspecified GLULD1 +OMIM:611470 skos:exactMatch HGNC_symbol:LGSN Unspecified GLULD1 +OMIM:611471 skos:exactMatch UMLS:C1538902 Unspecified ACP6 +OMIM:611471 skos:exactMatch HGNC:29609 Unspecified ACP6 +OMIM:611471 skos:exactMatch HGNC_symbol:ACP6 Unspecified ACP6 +OMIM:268200 skos:exactMatch UMLS:C1849386 Unspecified myoglobinuria, acute recurrent, autosomal recessive +OMIM:611458 skos:exactMatch HGNC:4298 Unspecified GLB1 +OMIM:611458 skos:exactMatch HGNC_symbol:GLB1 Unspecified GLB1 +OMIM:611458 skos:exactMatch UMLS:C1415090 Unspecified GLB1 +OMIM:611459 skos:exactMatch UMLS:C1822740 Unspecified SLC10A7 +OMIM:611459 skos:exactMatch HGNC:23088 Unspecified SLC10A7 +OMIM:611459 skos:exactMatch HGNC_symbol:SLC10A7 Unspecified SLC10A7 +OMIM:611456 skos:exactMatch UMLS:C1969617 Unspecified tremor, hereditary essential, 3 +OMIM:611457 skos:exactMatch HGNC_symbol:FOXO6 Unspecified FOXO6 +OMIM:611457 skos:exactMatch HGNC:24814 Unspecified FOXO6 +OMIM:611457 skos:exactMatch UMLS:C1969616 Unspecified FOXO6 +OMIM:611455 skos:exactMatch HGNC:26488 Unspecified KNCN +OMIM:611455 skos:exactMatch HGNC_symbol:KNCN Unspecified KNCN +OMIM:611455 skos:exactMatch UMLS:C1969618 Unspecified KNCN +OMIM:611453 skos:exactMatch UMLS:C1824888 Unspecified DBNDD2 +OMIM:611453 skos:exactMatch HGNC_symbol:DBNDD2 Unspecified DBNDD2 +OMIM:611453 skos:exactMatch HGNC:15881 Unspecified DBNDD2 +OMIM:611461 skos:exactMatch HGNC:23095 Unspecified SLC22A17 +OMIM:611461 skos:exactMatch HGNC_symbol:SLC22A17 Unspecified SLC22A17 +OMIM:611461 skos:exactMatch UMLS:C1427912 Unspecified SLC22A17 +OMIM:611462 skos:exactMatch HGNC_symbol:PIK3R6 Unspecified PIK3R6 +OMIM:611462 skos:exactMatch UMLS:C1428643 Unspecified PIK3R6 +OMIM:611462 skos:exactMatch HGNC:27101 Unspecified PIK3R6 +OMIM:611460 skos:exactMatch UMLS:C1825152 Unspecified TPRG1L +OMIM:611460 skos:exactMatch HGNC:27007 Unspecified TPRG1L +OMIM:611460 skos:exactMatch HGNC_symbol:TPRG1L Unspecified TPRG1L +OMIM:232240 skos:exactMatch UMLS:C0342750 Unspecified glycogen storage disease ic +OMIM:232240 skos:exactMatch UMLS:C0342749 Unspecified glycogen storage disease ic +OMIM:611449 skos:exactMatch HGNC:17796 Unspecified XPO4 +OMIM:611449 skos:exactMatch UMLS:C1425083 Unspecified XPO4 +OMIM:611449 skos:exactMatch HGNC_symbol:XPO4 Unspecified XPO4 +OMIM:611447 skos:exactMatch HGNC:17948 Unspecified YBX2 +OMIM:611447 skos:exactMatch UMLS:C1823884 Unspecified YBX2 +OMIM:611447 skos:exactMatch HGNC_symbol:YBX2 Unspecified YBX2 +OMIM:611448 skos:exactMatch HGNC_symbol:BMS1 Unspecified BMS1 +OMIM:611448 skos:exactMatch HGNC:23505 Unspecified BMS1 +OMIM:611448 skos:exactMatch UMLS:C1428109 Unspecified BMS1 +OMIM:611445 skos:exactMatch HGNC_symbol:DNM3 Unspecified DNM3 +OMIM:611445 skos:exactMatch HGNC:29125 Unspecified DNM3 +OMIM:611445 skos:exactMatch UMLS:C1428792 Unspecified DNM3 +OMIM:611446 skos:exactMatch UMLS:C1425546 Unspecified DUSP18 +OMIM:611446 skos:exactMatch HGNC_symbol:DUSP18 Unspecified DUSP18 +OMIM:611446 skos:exactMatch HGNC:18484 Unspecified DUSP18 +OMIM:611443 skos:exactMatch HGNC_symbol:DUX3 Unspecified DUX3 +OMIM:611443 skos:exactMatch HGNC:3081 Unspecified DUX3 +OMIM:611443 skos:exactMatch UMLS:C1414196 Unspecified DUX3 +OMIM:611444 skos:exactMatch HGNC_symbol:DUX5 Unspecified DUX5 +OMIM:611444 skos:exactMatch HGNC:3083 Unspecified DUX5 +OMIM:611444 skos:exactMatch UMLS:C1414198 Unspecified DUX5 +OMIM:611441 skos:exactMatch HGNC_symbol:DUX1 Unspecified DUX1 +OMIM:611441 skos:exactMatch HGNC:3079 Unspecified DUX1 +OMIM:611441 skos:exactMatch UMLS:C1414194 Unspecified DUX1 +OMIM:611442 skos:exactMatch HGNC_symbol:DUX4L8 Unspecified DUX2 +OMIM:611442 skos:exactMatch HGNC:38670 Unspecified DUX2 +OMIM:611442 skos:exactMatch UMLS:C1414195 Unspecified DUX2 +OMIM:611450 skos:exactMatch HGNC_symbol:PXK Unspecified PXK +OMIM:611450 skos:exactMatch HGNC:23326 Unspecified PXK +OMIM:611450 skos:exactMatch UMLS:C1428035 Unspecified PXK +OMIM:258865 skos:exactMatch ORPHA:141007 Unspecified orofaciodigital syndrome 9 +OMIM:258865 skos:exactMatch UMLS:C0796102 Unspecified orofaciodigital syndrome 9 +OMIM:611451 skos:exactMatch UMLS:C1969621 Unspecified deafness, autosomal recessive 63 +OMIM:256200 skos:exactMatch UMLS:C1850552 Unspecified nephrosis with deafness and urinary tract and digital malformations +OMIM:258860 skos:exactMatch UMLS:C0406727 Unspecified orofaciodigital syndrome 4 +OMIM:611438 skos:exactMatch HGNC:21617 Unspecified TXLNB +OMIM:611438 skos:exactMatch UMLS:C1823558 Unspecified TXLNB +OMIM:611438 skos:exactMatch HGNC_symbol:TXLNB Unspecified TXLNB +OMIM:611439 skos:exactMatch HGNC_symbol:ZBTB22 Unspecified ZBTB22 +OMIM:611439 skos:exactMatch UMLS:C1823902 Unspecified ZBTB22 +OMIM:611439 skos:exactMatch HGNC:13085 Unspecified ZBTB22 +OMIM:611436 skos:exactMatch HGNC:14914 Unspecified CA13 +OMIM:611436 skos:exactMatch UMLS:C1538426 Unspecified CA13 +OMIM:611436 skos:exactMatch HGNC_symbol:CA13 Unspecified CA13 +OMIM:611437 skos:exactMatch UMLS:C1425862 Unspecified DUSP19 +OMIM:611437 skos:exactMatch HGNC_symbol:DUSP19 Unspecified DUSP19 +OMIM:611437 skos:exactMatch HGNC:18894 Unspecified DUSP19 +OMIM:611434 skos:exactMatch UMLS:C1969622 Unspecified CLNK +OMIM:611434 skos:exactMatch HGNC_symbol:CLNK Unspecified CLNK +OMIM:611434 skos:exactMatch HGNC:17438 Unspecified CLNK +OMIM:611435 skos:exactMatch HGNC_symbol:DOK3 Unspecified DOK3 +OMIM:611435 skos:exactMatch UMLS:C1539309 Unspecified DOK3 +OMIM:611435 skos:exactMatch HGNC:24583 Unspecified DOK3 +OMIM:611432 skos:exactMatch HGNC_symbol:DOCK8 Unspecified DOCK8 +OMIM:611432 skos:exactMatch HGNC:19191 Unspecified DOCK8 +OMIM:611432 skos:exactMatch UMLS:C1426079 Unspecified DOCK8 +OMIM:611433 skos:exactMatch UMLS:C1539889 Unspecified STYK1 +OMIM:611433 skos:exactMatch HGNC_symbol:STYK1 Unspecified STYK1 +OMIM:611433 skos:exactMatch HGNC:18889 Unspecified STYK1 +OMIM:611430 skos:exactMatch HGNC:30761 Unspecified TTC21A +OMIM:611430 skos:exactMatch HGNC_symbol:TTC21A Unspecified TTC21A +OMIM:611430 skos:exactMatch UMLS:C1540116 Unspecified TTC21A +OMIM:611431 skos:exactMatch UMLS:C1969623 Unspecified legius syndrome +OMIM:611440 skos:exactMatch HGNC:13923 Unspecified WDR46 +OMIM:611440 skos:exactMatch HGNC_symbol:WDR46 Unspecified WDR46 +OMIM:611440 skos:exactMatch UMLS:C1823823 Unspecified WDR46 +OMIM:220290 skos:exactMatch UMLS:C2673761 Unspecified deafness, autosomal recessive 1a +OMIM:220290 skos:exactMatch UMLS:C2673760 Unspecified deafness, autosomal recessive 1a +OMIM:220290 skos:exactMatch UMLS:C2673759 Unspecified deafness, autosomal recessive 1a +OMIM:258870 skos:exactMatch UMLS:C0018425 Unspecified gyrate atrophy of choroid and retina +OMIM:244200 skos:exactMatch UMLS:C3550478 Unspecified hypogonadotropic hypogonadism 3 with or without anosmia +OMIM:258840 skos:exactMatch UMLS:C1850268 Unspecified oral and digital anomalies with ichthyosis +OMIM:219250 skos:exactMatch UMLS:C0345419 Unspecified cutis marmorata telangiectatica congenita +OMIM:611498 skos:exactMatch UMLS:C1969092 Unspecified nephronophthisis 7 +OMIM:220220 skos:exactMatch UMLS:C1857351 Unspecified dandy-walker malformation with postaxial polydactyly +OMIM:611499 skos:exactMatch HGNC:4696 Unspecified GUSB +OMIM:611499 skos:exactMatch UMLS:C1439345 Unspecified GUSB +OMIM:611499 skos:exactMatch HGNC_symbol:GUSB Unspecified GUSB +OMIM:611496 skos:exactMatch HGNC_symbol:GATA5 Unspecified GATA5 +OMIM:611496 skos:exactMatch HGNC:15802 Unspecified GATA5 +OMIM:611496 skos:exactMatch UMLS:C1423740 Unspecified GATA5 +OMIM:611497 skos:exactMatch UMLS:C1969093 Unspecified osteopetrosis, autosomal recessive 6 +OMIM:232200 skos:exactMatch UMLS:C2919796 Unspecified glycogen storage disease ia +OMIM:232200 skos:exactMatch ORPHA:364 Unspecified glycogen storage disease ia +OMIM:232200 skos:exactMatch ORPHA:79258 Unspecified glycogen storage disease ia +OMIM:258850 skos:exactMatch UMLS:C0406726 Unspecified orofaciodigital syndrome 3 +OMIM:305660 skos:exactMatch UMLS:C1414910 Unspecified GABRA3 +OMIM:305660 skos:exactMatch HGNC:4077 Unspecified GABRA3 +OMIM:305660 skos:exactMatch HGNC_symbol:GABRA3 Unspecified GABRA3 +OMIM:305620 skos:exactMatch UMLS:C4281559 Unspecified frontometaphyseal dysplasia 1 +OMIM:611489 skos:exactMatch UMLS:C1969107 Unspecified corticosteroid-binding globulin deficiency +OMIM:611489 skos:exactMatch UMLS:C1852529 Unspecified corticosteroid-binding globulin deficiency +OMIM:611487 skos:exactMatch UMLS:C1823158 Unspecified SYCE2 +OMIM:611487 skos:exactMatch HGNC:27411 Unspecified SYCE2 +OMIM:611487 skos:exactMatch HGNC_symbol:SYCE2 Unspecified SYCE2 +OMIM:611488 skos:exactMatch UMLS:C1969108 Unspecified macular degeneration, age-related, 10 +OMIM:611485 skos:exactMatch HGNC_symbol:CYP4F12 Unspecified CYP4F12 +OMIM:611485 skos:exactMatch HGNC:18857 Unspecified CYP4F12 +OMIM:611485 skos:exactMatch UMLS:C1425828 Unspecified CYP4F12 +OMIM:611486 skos:exactMatch UMLS:C1823157 Unspecified SYCE1 +OMIM:611486 skos:exactMatch HGNC:28852 Unspecified SYCE1 +OMIM:611486 skos:exactMatch HGNC_symbol:SYCE1 Unspecified SYCE1 +OMIM:611494 skos:exactMatch UMLS:C1969099 Unspecified atrial fibrillation, familial, 5 +OMIM:611495 skos:exactMatch UMLS:C1969094 Unspecified CYP4F22 +OMIM:611495 skos:exactMatch HGNC:26820 Unspecified CYP4F22 +OMIM:611495 skos:exactMatch HGNC_symbol:CYP4F22 Unspecified CYP4F22 +OMIM:611492 skos:exactMatch HGNC_symbol:CA2 Unspecified CA2 +OMIM:611492 skos:exactMatch HGNC:1373 Unspecified CA2 +OMIM:611492 skos:exactMatch UMLS:C1413043 Unspecified CA2 +OMIM:611493 skos:exactMatch UMLS:C1862394 Unspecified atrial fibrillation, familial, 4 +OMIM:611490 skos:exactMatch UMLS:C1969106 Unspecified osteopetrosis, autosomal recessive 4 +OMIM:611491 skos:exactMatch UMLS:C1969105 Unspecified RADIL +OMIM:611491 skos:exactMatch HGNC_symbol:RADIL Unspecified RADIL +OMIM:611491 skos:exactMatch HGNC:22226 Unspecified RADIL +OMIM:611478 skos:exactMatch HGNC_symbol:MEPCE Unspecified MEPCE +OMIM:611478 skos:exactMatch UMLS:C1826417 Unspecified MEPCE +OMIM:611478 skos:exactMatch HGNC:20247 Unspecified MEPCE +OMIM:611479 skos:exactMatch UMLS:C1424698 Unspecified XAB1 +OMIM:611479 skos:exactMatch HGNC:17030 Unspecified XAB1 +OMIM:611479 skos:exactMatch HGNC_symbol:GPN1 Unspecified XAB1 +OMIM:611476 skos:exactMatch HGNC:25791 Unspecified RPAP2 +OMIM:611476 skos:exactMatch UMLS:C1823702 Unspecified RPAP2 +OMIM:611476 skos:exactMatch HGNC_symbol:RPAP2 Unspecified RPAP2 +OMIM:611477 skos:exactMatch UMLS:C1969110 Unspecified RPAP3 +OMIM:611477 skos:exactMatch HGNC_symbol:RPAP3 Unspecified RPAP3 +OMIM:611477 skos:exactMatch HGNC:26151 Unspecified RPAP3 +OMIM:611474 skos:exactMatch HGNC:24978 Unspecified PLAAT5 +OMIM:611474 skos:exactMatch UMLS:C1825524 Unspecified PLAAT5 +OMIM:611474 skos:exactMatch HGNC_symbol:PLAAT5 Unspecified PLAAT5 +OMIM:611475 skos:exactMatch HGNC:24567 Unspecified RPAP1 +OMIM:611475 skos:exactMatch UMLS:C1428389 Unspecified RPAP1 +OMIM:611475 skos:exactMatch HGNC_symbol:RPAP1 Unspecified RPAP1 +OMIM:611483 skos:exactMatch HGNC:24877 Unspecified YIPF5 +OMIM:611483 skos:exactMatch UMLS:C1823890 Unspecified YIPF5 +OMIM:611483 skos:exactMatch HGNC_symbol:YIPF5 Unspecified YIPF5 +OMIM:611484 skos:exactMatch HGNC:16688 Unspecified YIF1A +OMIM:611484 skos:exactMatch UMLS:C1823885 Unspecified YIF1A +OMIM:611484 skos:exactMatch HGNC_symbol:YIF1A Unspecified YIF1A +OMIM:611481 skos:exactMatch HGNC_symbol:UFSP1 Unspecified UFSP1 +OMIM:611481 skos:exactMatch UMLS:C1969109 Unspecified UFSP1 +OMIM:611481 skos:exactMatch HGNC:33821 Unspecified UFSP1 +OMIM:232220 skos:exactMatch UMLS:C0268146 Unspecified glycogen storage disease ib +OMIM:232220 skos:exactMatch ORPHA:364 Unspecified glycogen storage disease ib +OMIM:232220 skos:exactMatch ORPHA:79259 Unspecified glycogen storage disease ib +OMIM:611482 skos:exactMatch HGNC_symbol:UFSP2 Unspecified UFSP2 +OMIM:611482 skos:exactMatch UMLS:C1824165 Unspecified UFSP2 +OMIM:611482 skos:exactMatch HGNC:25640 Unspecified UFSP2 +OMIM:611480 skos:exactMatch HGNC_symbol:PIH1D1 Unspecified PIH1D1 +OMIM:611480 skos:exactMatch HGNC:26075 Unspecified PIH1D1 +OMIM:611480 skos:exactMatch UMLS:C1826454 Unspecified PIH1D1 +OMIM:219200 skos:exactMatch UMLS:C0268355 Unspecified cutis laxa, autosomal recessive, iia 2a +OMIM:209880 skos:exactMatch ORPHA:99803 Unspecified central hypoventilation syndrome, congenital, 1 +OMIM:209880 skos:exactMatch ORPHA:661 Unspecified central hypoventilation syndrome, congenital, 1 +OMIM:209880 skos:exactMatch UMLS:C1275808 Unspecified central hypoventilation syndrome, congenital, 1 +OMIM:209880 skos:exactMatch UMLS:C1859049 Unspecified central hypoventilation syndrome, congenital, 1 +OMIM:209885 skos:exactMatch UMLS:C1319466 Unspecified barber-say syndrome +OMIM:258800 skos:exactMatch UMLS:C1850269 Unspecified oral sensibility, disturbance of +OMIM:234820 skos:exactMatch UMLS:C0334542 Unspecified hemangiopericytoma, malignant +OMIM:220219 skos:exactMatch UMLS:C1857352 Unspecified dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy +OMIM:220210 skos:exactMatch UMLS:C0796137 Unspecified ritscher-schinzel syndrome 1 +OMIM:220210 skos:exactMatch UMLS:C4551776 Unspecified ritscher-schinzel syndrome 1 +OMIM:220210 skos:exactMatch ORPHA:7 Unspecified ritscher-schinzel syndrome 1 +OMIM:136400 skos:exactMatch UMLS:C1851009 Unspecified focal epithelial hyperplasia of the oral mucosa +OMIM:220200 skos:exactMatch UMLS:C0010964 Unspecified dandy-walker syndrome +OMIM:222800 skos:exactMatch ORPHA:714 Unspecified erythrocytosis, familial, 8 +OMIM:222800 skos:exactMatch UMLS:C1291620 Unspecified erythrocytosis, familial, 8 +OMIM:136425 skos:exactMatch HGNC:3793 Unspecified FOLR2 +OMIM:136425 skos:exactMatch HGNC_symbol:FOLR2 Unspecified FOLR2 +OMIM:136425 skos:exactMatch UMLS:C1414664 Unspecified FOLR2 +OMIM:209850 skos:exactMatch UMLS:C1510586 Unspecified autism +OMIM:209850 skos:exactMatch UMLS:C0004352 Unspecified autism +OMIM:209850 skos:exactMatch UMLS:C1968924 Unspecified autism +OMIM:136435 skos:exactMatch HGNC:3969 Unspecified FSHR +OMIM:136435 skos:exactMatch HGNC_symbol:FSHR Unspecified FSHR +OMIM:136435 skos:exactMatch UMLS:C1414828 Unspecified FSHR +OMIM:136430 skos:exactMatch HGNC:3791 Unspecified FOLR1 +OMIM:136430 skos:exactMatch UMLS:C2751584 Unspecified FOLR1 +OMIM:136430 skos:exactMatch HGNC_symbol:FOLR1 Unspecified FOLR1 +OMIM:136430 skos:exactMatch UMLS:C1414662 Unspecified FOLR1 +OMIM:124490 skos:exactMatch UMLS:C1852292 Unspecified deafness, conductive stapedial, with ear malformation and facial palsy +OMIM:234810 skos:exactMatch UMLS:C0340848 Unspecified pulmonary venoocclusive disease 2, autosomal recessive +OMIM:136440 skos:exactMatch HGNC:4021 Unspecified KDSR +OMIM:136440 skos:exactMatch HGNC_symbol:KDSR Unspecified KDSR +OMIM:136440 skos:exactMatch UMLS:C1333583 Unspecified KDSR +OMIM:124480 skos:exactMatch UMLS:C2675730 Unspecified deafness, congenital, with onychodystrophy, autosomal dominant +OMIM:234800 skos:exactMatch UMLS:C0220738 Unspecified hemangiomatosis, cutaneous, with associated features +OMIM:138750 skos:exactMatch HGNC:4323 Unspecified GLO1 +OMIM:138750 skos:exactMatch HGNC_symbol:GLO1 Unspecified GLO1 +OMIM:138750 skos:exactMatch UMLS:C1415104 Unspecified GLO1 +OMIM:114780 skos:exactMatch UMLS:C1413049 Unspecified CA6 +OMIM:114780 skos:exactMatch HGNC_symbol:CA6 Unspecified CA6 +OMIM:114780 skos:exactMatch HGNC:1380 Unspecified CA6 +OMIM:124100 skos:exactMatch UMLS:C0004698 Unspecified danubian endemic familial nephropathy +OMIM:163700 skos:exactMatch UMLS:C0266011 Unspecified nipples, supernumerary +OMIM:138760 skos:exactMatch HGNC_symbol:HAGH Unspecified HAGH +OMIM:138760 skos:exactMatch HGNC:4805 Unspecified HAGH +OMIM:138760 skos:exactMatch UMLS:C1415464 Unspecified HAGH +OMIM:114770 skos:exactMatch HGNC_symbol:CA7 Unspecified CA7 +OMIM:114770 skos:exactMatch HGNC:1381 Unspecified CA7 +OMIM:114770 skos:exactMatch UMLS:C1413050 Unspecified CA7 +OMIM:136100 skos:exactMatch UMLS:C1851079 Unspecified fingers, relative length of +OMIM:138770 skos:exactMatch ORPHA:2090 Unspecified gms syndrome +OMIM:138770 skos:exactMatch UMLS:C1841854 Unspecified gms syndrome +OMIM:163731 skos:exactMatch HGNC:7872 Unspecified NOS1 +OMIM:163731 skos:exactMatch UMLS:C1417759 Unspecified NOS1 +OMIM:163731 skos:exactMatch HGNC_symbol:NOS1 Unspecified NOS1 +OMIM:112100 skos:exactMatch UMLS:C1862189 Unspecified yt blood group antigen +OMIM:114761 skos:exactMatch HGNC_symbol:CA5A Unspecified CA5A +OMIM:114761 skos:exactMatch HGNC:1377 Unspecified CA5A +OMIM:114761 skos:exactMatch UMLS:C1413046 Unspecified CA5A +OMIM:114760 skos:exactMatch HGNC_symbol:CA4 Unspecified CA4 +OMIM:114760 skos:exactMatch HGNC:1375 Unspecified CA4 +OMIM:114760 skos:exactMatch UMLS:C1413045 Unspecified CA4 +OMIM:163730 skos:exactMatch UMLS:C1417760 Unspecified NOS2 +OMIM:163730 skos:exactMatch UMLS:C2986382 Unspecified NOS2 +OMIM:163730 skos:exactMatch HGNC_symbol:NOS2 Unspecified NOS2 +OMIM:163730 skos:exactMatch UMLS:C2720293 Unspecified NOS2 +OMIM:163730 skos:exactMatch UMLS:C1970030 Unspecified NOS2 +OMIM:163730 skos:exactMatch HGNC:7873 Unspecified NOS2 +OMIM:102776 skos:exactMatch HGNC:263 Unspecified ADORA2A +OMIM:102776 skos:exactMatch UMLS:C1412246 Unspecified ADORA2A +OMIM:102776 skos:exactMatch HGNC_symbol:ADORA2A Unspecified ADORA2A +OMIM:151740 skos:exactMatch HGNC:537 Unspecified ANXA2 +OMIM:151740 skos:exactMatch HGNC_symbol:ANXA2 Unspecified ANXA2 +OMIM:151740 skos:exactMatch UMLS:C1835372 Unspecified ANXA2 +OMIM:151740 skos:exactMatch UMLS:C1412420 Unspecified ANXA2 +OMIM:151740 skos:exactMatch UMLS:C1412423 Unspecified ANXA2 +OMIM:151740 skos:exactMatch UMLS:C1412422 Unspecified ANXA2 +OMIM:102770 skos:exactMatch HGNC_symbol:AMPD1 Unspecified AMPD1 +OMIM:102770 skos:exactMatch HGNC:468 Unspecified AMPD1 +OMIM:102770 skos:exactMatch UMLS:C1412387 Unspecified AMPD1 +OMIM:102771 skos:exactMatch HGNC_symbol:AMPD2 Unspecified AMPD2 +OMIM:102771 skos:exactMatch HGNC:469 Unspecified AMPD2 +OMIM:102771 skos:exactMatch UMLS:C1412388 Unspecified AMPD2 +OMIM:102772 skos:exactMatch HGNC_symbol:AMPD3 Unspecified AMPD3 +OMIM:102772 skos:exactMatch HGNC:470 Unspecified AMPD3 +OMIM:102772 skos:exactMatch UMLS:C1412389 Unspecified AMPD3 +OMIM:102775 skos:exactMatch HGNC:262 Unspecified ADORA1 +OMIM:102775 skos:exactMatch HGNC_symbol:ADORA1 Unspecified ADORA1 +OMIM:102775 skos:exactMatch UMLS:C1412245 Unspecified ADORA1 +OMIM:136120 skos:exactMatch UMLS:C0342895 Unspecified fish-eye disease +OMIM:114750 skos:exactMatch HGNC_symbol:CA3 Unspecified CA3 +OMIM:114750 skos:exactMatch HGNC:1374 Unspecified CA3 +OMIM:114750 skos:exactMatch UMLS:C1413044 Unspecified CA3 +OMIM:175700 skos:exactMatch UMLS:C0265306 Unspecified greig cephalopolysyndactyly syndrome +OMIM:148100 skos:exactMatch UMLS:C3149494 Unspecified keloid formation +OMIM:151750 skos:exactMatch UMLS:C1416868 Unspecified LIPE +OMIM:151750 skos:exactMatch HGNC_symbol:LIPE Unspecified LIPE +OMIM:151750 skos:exactMatch HGNC:6621 Unspecified LIPE +OMIM:163729 skos:exactMatch UMLS:C1834153 Unspecified NOS3 +OMIM:163729 skos:exactMatch UMLS:C1834154 Unspecified NOS3 +OMIM:163729 skos:exactMatch UMLS:C1834155 Unspecified NOS3 +OMIM:163729 skos:exactMatch HGNC:7876 Unspecified NOS3 +OMIM:163729 skos:exactMatch UMLS:C1328053 Unspecified NOS3 +OMIM:163729 skos:exactMatch UMLS:C3149657 Unspecified NOS3 +OMIM:163729 skos:exactMatch HGNC_symbol:NOS3 Unspecified NOS3 +OMIM:138790 skos:exactMatch UMLS:C1841853 Unspecified goiter, multinodular, cystic renal disease, and digital anomalies +OMIM:136130 skos:exactMatch HGNC:3769 Unspecified FMO1 +OMIM:136130 skos:exactMatch HGNC_symbol:FMO1 Unspecified FMO1 +OMIM:136130 skos:exactMatch UMLS:C1414643 Unspecified FMO1 +OMIM:136131 skos:exactMatch HGNC:3772 Unspecified FMO4 +OMIM:136131 skos:exactMatch HGNC_symbol:FMO4 Unspecified FMO4 +OMIM:136131 skos:exactMatch UMLS:C1414646 Unspecified FMO4 +OMIM:136132 skos:exactMatch HGNC:3771 Unspecified FMO3 +OMIM:136132 skos:exactMatch HGNC_symbol:FMO3 Unspecified FMO3 +OMIM:136132 skos:exactMatch UMLS:C1414645 Unspecified FMO3 +OMIM:136140 skos:exactMatch UMLS:C0729582 Unspecified floating-harbor syndrome +OMIM:102750 skos:exactMatch HGNC:257 Unspecified ADK +OMIM:102750 skos:exactMatch HGNC_symbol:ADK Unspecified ADK +OMIM:102750 skos:exactMatch UMLS:C1412243 Unspecified ADK +OMIM:100100 skos:exactMatch ORPHA:2970 Unspecified prune belly syndrome +OMIM:100100 skos:exactMatch UMLS:C0033770 Unspecified prune belly syndrome +OMIM:136150 skos:exactMatch UMLS:C1851056 Unspecified flood factor deficiency +OMIM:187700 skos:exactMatch HGNC:12435 Unspecified TXN +OMIM:187700 skos:exactMatch HGNC_symbol:TXN Unspecified TXN +OMIM:187700 skos:exactMatch UMLS:C1336690 Unspecified TXN +OMIM:126700 skos:exactMatch ORPHA:75376 Unspecified basal laminar drusen +OMIM:126700 skos:exactMatch UMLS:C0730295 Unspecified basal laminar drusen +OMIM:175750 skos:exactMatch UMLS:C0032650 Unspecified popliteal cyst +OMIM:102730 skos:exactMatch UMLS:C1863235 Unspecified adenosine deaminase, elevated, hemolytic anemia due to +OMIM:161100 skos:exactMatch UMLS:C1834402 Unspecified nailbeds, pigmentation of +OMIM:611629 skos:exactMatch HGNC:15998 Unspecified NAV3 +OMIM:611629 skos:exactMatch UMLS:C1423898 Unspecified NAV3 +OMIM:611629 skos:exactMatch HGNC_symbol:NAV3 Unspecified NAV3 +OMIM:185100 skos:exactMatch UMLS:C1861449 Unspecified strabismus, susceptibility to +OMIM:185100 skos:exactMatch UMLS:C1861450 Unspecified strabismus, susceptibility to +OMIM:611627 skos:exactMatch UMLS:C1539463 Unspecified TLCD3A +OMIM:611627 skos:exactMatch HGNC_symbol:TLCD3A Unspecified TLCD3A +OMIM:611627 skos:exactMatch HGNC:29646 Unspecified TLCD3A +OMIM:611628 skos:exactMatch HGNC:15989 Unspecified NAV1 +OMIM:611628 skos:exactMatch UMLS:C1423890 Unspecified NAV1 +OMIM:611628 skos:exactMatch HGNC_symbol:NAV1 Unspecified NAV1 +OMIM:611625 skos:exactMatch HGNC:15857 Unspecified GID8 +OMIM:611625 skos:exactMatch UMLS:C1423779 Unspecified GID8 +OMIM:611625 skos:exactMatch HGNC_symbol:GID8 Unspecified GID8 +OMIM:611626 skos:exactMatch HGNC_symbol:MPHOSPH8 Unspecified MPHOSPH8 +OMIM:611626 skos:exactMatch UMLS:C1969012 Unspecified MPHOSPH8 +OMIM:611626 skos:exactMatch HGNC:29810 Unspecified MPHOSPH8 +OMIM:611623 skos:exactMatch HGNC:24539 Unspecified NECAP1 +OMIM:611623 skos:exactMatch UMLS:C1826394 Unspecified NECAP1 +OMIM:611623 skos:exactMatch UMLS:C4014430 Unspecified NECAP1 +OMIM:611623 skos:exactMatch HGNC_symbol:NECAP1 Unspecified NECAP1 +OMIM:611624 skos:exactMatch HGNC:25528 Unspecified NECAP2 +OMIM:611624 skos:exactMatch UMLS:C1826395 Unspecified NECAP2 +OMIM:611624 skos:exactMatch HGNC_symbol:NECAP2 Unspecified NECAP2 +OMIM:611621 skos:exactMatch UMLS:C2239744 Unspecified MIR1225 +OMIM:611621 skos:exactMatch HGNC_symbol:MIR1225 Unspecified MIR1225 +OMIM:611621 skos:exactMatch HGNC:33931 Unspecified MIR1225 +OMIM:611622 skos:exactMatch UMLS:C3147659 Unspecified IQCJ +OMIM:611622 skos:exactMatch HGNC_symbol:IQCJ Unspecified IQCJ +OMIM:611622 skos:exactMatch UMLS:C1825616 Unspecified IQCJ +OMIM:611622 skos:exactMatch HGNC:32406 Unspecified IQCJ +OMIM:187760 skos:exactMatch UMLS:C1861197 Unspecified thoracolaryngopelvic dysplasia +OMIM:611620 skos:exactMatch UMLS:C2239743 Unspecified MIR1224 +OMIM:611620 skos:exactMatch HGNC_symbol:MIR1224 Unspecified MIR1224 +OMIM:611620 skos:exactMatch HGNC:33923 Unspecified MIR1224 +OMIM:114700 skos:exactMatch UMLS:C1861897 Unspecified carabelli anomaly of maxillary molar teeth +OMIM:173110 skos:exactMatch HGNC:9210 Unspecified POU1F1 +OMIM:173110 skos:exactMatch HGNC_symbol:POU1F1 Unspecified POU1F1 +OMIM:173110 skos:exactMatch UMLS:C1418759 Unspecified POU1F1 +OMIM:173110 skos:exactMatch UMLS:C2751608 Unspecified POU1F1 +OMIM:305450 skos:exactMatch UMLS:C0220769 Unspecified opitz-kaveggia syndrome +OMIM:611619 skos:exactMatch HGNC:33660 Unspecified MIR877 +OMIM:611619 skos:exactMatch UMLS:C1969015 Unspecified MIR877 +OMIM:611619 skos:exactMatch HGNC_symbol:MIR877 Unspecified MIR877 +OMIM:611616 skos:exactMatch HGNC_symbol:NADK Unspecified NADK +OMIM:611616 skos:exactMatch UMLS:C1826342 Unspecified NADK +OMIM:611616 skos:exactMatch HGNC:29831 Unspecified NADK +OMIM:611617 skos:exactMatch HGNC_symbol:EFHD1 Unspecified EFHD1 +OMIM:611617 skos:exactMatch HGNC:29556 Unspecified EFHD1 +OMIM:611617 skos:exactMatch UMLS:C1428873 Unspecified EFHD1 +OMIM:611614 skos:exactMatch HGNC_symbol:UTP3 Unspecified UTP3 +OMIM:611614 skos:exactMatch HGNC:24477 Unspecified UTP3 +OMIM:611614 skos:exactMatch UMLS:C1969026 Unspecified UTP3 +OMIM:611615 skos:exactMatch UMLS:C1969024 Unspecified cardiomyopathy, dilated, 1x +OMIM:611612 skos:exactMatch HGNC_symbol:THTPA Unspecified THTPA +OMIM:611612 skos:exactMatch UMLS:C1425934 Unspecified THTPA +OMIM:611612 skos:exactMatch HGNC:18987 Unspecified THTPA +OMIM:611613 skos:exactMatch HGNC_symbol:POGLUT2 Unspecified POGLUT2 +OMIM:611613 skos:exactMatch HGNC:19350 Unspecified POGLUT2 +OMIM:611613 skos:exactMatch UMLS:C1426182 Unspecified POGLUT2 +OMIM:611610 skos:exactMatch UMLS:C1427194 Unspecified PGM2L1 +OMIM:611610 skos:exactMatch HGNC_symbol:PGM2L1 Unspecified PGM2L1 +OMIM:611610 skos:exactMatch HGNC:20898 Unspecified PGM2L1 +OMIM:611611 skos:exactMatch HGNC:13081 Unspecified SCAPER +OMIM:611611 skos:exactMatch UMLS:C1421773 Unspecified SCAPER +OMIM:611611 skos:exactMatch HGNC_symbol:SCAPER Unspecified SCAPER +OMIM:187770 skos:exactMatch UMLS:C1861196 Unspecified thoracopelvic dysostosis +OMIM:173100 skos:exactMatch UMLS:C0271567 Unspecified isolated growth hormone deficiency, iia 2 +OMIM:102720 skos:exactMatch HGNC_symbol:DPP4 Unspecified DPP4 +OMIM:102720 skos:exactMatch HGNC:3009 Unspecified DPP4 +OMIM:102720 skos:exactMatch UMLS:C1414141 Unspecified DPP4 +OMIM:305424 skos:exactMatch UMLS:C1366370 Unspecified None +OMIM:611609 skos:exactMatch HGNC_symbol:SIPA1L2 Unspecified SIPA1L2 +OMIM:611609 skos:exactMatch HGNC:23800 Unspecified SIPA1L2 +OMIM:611609 skos:exactMatch UMLS:C1428268 Unspecified SIPA1L2 +OMIM:305423 skos:exactMatch HGNC_symbol:F8A1 Unspecified F8A1 +OMIM:305423 skos:exactMatch UMLS:C1539373 Unspecified F8A1 +OMIM:305423 skos:exactMatch HGNC:3547 Unspecified F8A1 +OMIM:611607 skos:exactMatch HGNC:31553 Unspecified MIR182 +OMIM:611607 skos:exactMatch HGNC_symbol:MIR182 Unspecified MIR182 +OMIM:611607 skos:exactMatch UMLS:C1537816 Unspecified MIR182 +OMIM:611608 skos:exactMatch HGNC:31554 Unspecified MIR183 +OMIM:611608 skos:exactMatch HGNC_symbol:MIR183 Unspecified MIR183 +OMIM:611608 skos:exactMatch UMLS:C1537817 Unspecified MIR183 +OMIM:611605 skos:exactMatch UMLS:C1539837 Unspecified ERLIN2 +OMIM:611605 skos:exactMatch HGNC_symbol:ERLIN2 Unspecified ERLIN2 +OMIM:611605 skos:exactMatch HGNC:1356 Unspecified ERLIN2 +OMIM:611606 skos:exactMatch HGNC_symbol:MIR96 Unspecified MIR96 +OMIM:611606 skos:exactMatch HGNC:31648 Unspecified MIR96 +OMIM:611606 skos:exactMatch UMLS:C1537752 Unspecified MIR96 +OMIM:611603 skos:exactMatch UMLS:C1969029 Unspecified lissencephaly 3 +OMIM:611604 skos:exactMatch HGNC:16947 Unspecified ERLIN1 +OMIM:611604 skos:exactMatch UMLS:C1539836 Unspecified ERLIN1 +OMIM:611604 skos:exactMatch HGNC_symbol:ERLIN1 Unspecified ERLIN1 +OMIM:611601 skos:exactMatch UMLS:C1424060 Unspecified RIMS4 +OMIM:611601 skos:exactMatch HGNC_symbol:RIMS4 Unspecified RIMS4 +OMIM:611601 skos:exactMatch HGNC:16183 Unspecified RIMS4 +OMIM:611602 skos:exactMatch HGNC:30339 Unspecified RIMBP2 +OMIM:611602 skos:exactMatch HGNC_symbol:RIMBP2 Unspecified RIMBP2 +OMIM:611602 skos:exactMatch UMLS:C1826830 Unspecified RIMBP2 +OMIM:148180 skos:exactMatch UMLS:C0919507 Unspecified FGF7 +OMIM:148180 skos:exactMatch HGNC_symbol:FGF7 Unspecified FGF7 +OMIM:148180 skos:exactMatch HGNC:3685 Unspecified FGF7 +OMIM:611600 skos:exactMatch HGNC_symbol:RIMS3 Unspecified RIMS3 +OMIM:611600 skos:exactMatch HGNC:21292 Unspecified RIMS3 +OMIM:611600 skos:exactMatch UMLS:C1427473 Unspecified RIMS3 +OMIM:305435 skos:exactMatch UMLS:C1844568 Unspecified fetal hemoglobin quantitative trait locus 3 +OMIM:148190 skos:exactMatch UMLS:C1835698 Unspecified keratitis, hereditary +OMIM:187750 skos:exactMatch UMLS:C1861204 Unspecified thoracic dysostosis, isolated +OMIM:102700 skos:exactMatch UMLS:C1863236 Unspecified severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency +OMIM:102700 skos:exactMatch UMLS:C0392607 Unspecified severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency +OMIM:102700 skos:exactMatch ORPHA:277 Unspecified severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency +OMIM:175780 skos:exactMatch UMLS:C4551998 Unspecified brain small vessel disease 1 with or without ocular anomalies +OMIM:175780 skos:exactMatch ORPHA:99810 Unspecified brain small vessel disease 1 with or without ocular anomalies +OMIM:175780 skos:exactMatch ORPHA:2940 Unspecified brain small vessel disease 1 with or without ocular anomalies +OMIM:175780 skos:exactMatch UMLS:C2675650 Unspecified brain small vessel disease 1 with or without ocular anomalies +OMIM:175780 skos:exactMatch ORPHA:36383 Unspecified brain small vessel disease 1 with or without ocular anomalies +OMIM:173120 skos:exactMatch HGNC_symbol:SCG5 Unspecified SGNE1 +OMIM:173120 skos:exactMatch UMLS:C1822653 Unspecified SGNE1 +OMIM:173120 skos:exactMatch HGNC:10816 Unspecified SGNE1 +OMIM:611669 skos:exactMatch UMLS:C1428492 Unspecified TRMT1 +OMIM:611669 skos:exactMatch HGNC_symbol:TRMT1 Unspecified TRMT1 +OMIM:611669 skos:exactMatch HGNC:25980 Unspecified TRMT1 +OMIM:611667 skos:exactMatch HGNC:18650 Unspecified SPATS2 +OMIM:611667 skos:exactMatch HGNC_symbol:SPATS2 Unspecified SPATS2 +OMIM:611667 skos:exactMatch UMLS:C1425677 Unspecified SPATS2 +OMIM:611668 skos:exactMatch HGNC:26161 Unspecified CORO7 +OMIM:611668 skos:exactMatch HGNC_symbol:CORO7 Unspecified CORO7 +OMIM:611668 skos:exactMatch UMLS:C1539127 Unspecified CORO7 +OMIM:611665 skos:exactMatch HGNC:20084 Unspecified DDX54 +OMIM:611665 skos:exactMatch HGNC_symbol:DDX54 Unspecified DDX54 +OMIM:611665 skos:exactMatch UMLS:C1426670 Unspecified DDX54 +OMIM:611666 skos:exactMatch HGNC:23682 Unspecified PLPP6 +OMIM:611666 skos:exactMatch UMLS:C1826650 Unspecified PLPP6 +OMIM:611666 skos:exactMatch HGNC_symbol:PLPP6 Unspecified PLPP6 +OMIM:611663 skos:exactMatch HGNC:16133 Unspecified TBC1D20 +OMIM:611663 skos:exactMatch HGNC_symbol:TBC1D20 Unspecified TBC1D20 +OMIM:611663 skos:exactMatch UMLS:C1539936 Unspecified TBC1D20 +OMIM:611664 skos:exactMatch UMLS:C2674081 Unspecified skin/hair/eye pigmentation, variation in, 7 +OMIM:611661 skos:exactMatch HGNC:17883 Unspecified DBF4B +OMIM:611661 skos:exactMatch UMLS:C1824886 Unspecified DBF4B +OMIM:611661 skos:exactMatch HGNC_symbol:DBF4B Unspecified DBF4B +OMIM:611662 skos:exactMatch HGNC_symbol:EGOT Unspecified EGOT +OMIM:611662 skos:exactMatch UMLS:C1968835 Unspecified EGOT +OMIM:611662 skos:exactMatch HGNC:37129 Unspecified EGOT +OMIM:611670 skos:exactMatch HGNC:29821 Unspecified ISYNA1 +OMIM:611670 skos:exactMatch UMLS:C1968833 Unspecified ISYNA1 +OMIM:611670 skos:exactMatch HGNC_symbol:ISYNA1 Unspecified ISYNA1 +OMIM:611671 skos:exactMatch HGNC:30596 Unspecified PIGZ +OMIM:611671 skos:exactMatch HGNC_symbol:PIGZ Unspecified PIGZ +OMIM:611671 skos:exactMatch UMLS:C1826588 Unspecified PIGZ +OMIM:608022 skos:exactMatch UMLS:C1842691 Unspecified diaphanospondylodysostosis +OMIM:608021 skos:exactMatch HGNC_symbol:WFIKKN1 Unspecified WFIKKN1 +OMIM:608021 skos:exactMatch UMLS:C1538107 Unspecified WFIKKN1 +OMIM:608021 skos:exactMatch HGNC:30912 Unspecified WFIKKN1 +OMIM:608020 skos:exactMatch UMLS:C1417875 Unspecified NUCB2 +OMIM:608020 skos:exactMatch HGNC:8044 Unspecified NUCB2 +OMIM:608020 skos:exactMatch HGNC_symbol:NUCB2 Unspecified NUCB2 +OMIM:608026 skos:exactMatch UMLS:C0848548 Unspecified hypertensive nephropathy +OMIM:608025 skos:exactMatch HGNC_symbol:NBAS Unspecified NBAS +OMIM:608025 skos:exactMatch UMLS:C1842690 Unspecified NBAS +OMIM:608025 skos:exactMatch HGNC:15625 Unspecified NBAS +OMIM:608024 skos:exactMatch HGNC_symbol:ECI2 Unspecified ECI2 +OMIM:608024 skos:exactMatch UMLS:C1422782 Unspecified ECI2 +OMIM:608024 skos:exactMatch HGNC:14601 Unspecified ECI2 +OMIM:608023 skos:exactMatch HGNC:18193 Unspecified DDX56 +OMIM:608023 skos:exactMatch HGNC_symbol:DDX56 Unspecified DDX56 +OMIM:608023 skos:exactMatch UMLS:C1425370 Unspecified DDX56 +OMIM:608029 skos:exactMatch UMLS:C1842676 Unspecified spinocerebellar ataxia, autosomal recessive 6 +OMIM:608028 skos:exactMatch UMLS:C1842679 Unspecified thai symphalangism syndrome +OMIM:608027 skos:exactMatch UMLS:C1842687 Unspecified pontocerebellar hypoplasia, iia 3 +OMIM:608009 skos:exactMatch UMLS:C1412309 Unspecified AK5 +OMIM:608009 skos:exactMatch HGNC_symbol:AK5 Unspecified AK5 +OMIM:608009 skos:exactMatch HGNC:365 Unspecified AK5 +OMIM:271530 skos:exactMatch UMLS:C1849055 Unspecified brachyolmia iia 1, hobaek iia +OMIM:611658 skos:exactMatch UMLS:C1823118 Unspecified SPSB2 +OMIM:611658 skos:exactMatch HGNC:29522 Unspecified SPSB2 +OMIM:611658 skos:exactMatch HGNC_symbol:SPSB2 Unspecified SPSB2 +OMIM:611659 skos:exactMatch UMLS:C1823119 Unspecified SPSB3 +OMIM:611659 skos:exactMatch HGNC_symbol:SPSB3 Unspecified SPSB3 +OMIM:611659 skos:exactMatch HGNC:30629 Unspecified SPSB3 +OMIM:611656 skos:exactMatch HGNC_symbol:SIKE1 Unspecified SIKE1 +OMIM:611656 skos:exactMatch UMLS:C1968836 Unspecified SIKE1 +OMIM:611656 skos:exactMatch HGNC:26119 Unspecified SIKE1 +OMIM:611657 skos:exactMatch UMLS:C1823117 Unspecified SPSB1 +OMIM:611657 skos:exactMatch HGNC_symbol:SPSB1 Unspecified SPSB1 +OMIM:611657 skos:exactMatch HGNC:30628 Unspecified SPSB1 +OMIM:611654 skos:exactMatch HGNC_symbol:CSPP1 Unspecified CSPP1 +OMIM:611654 skos:exactMatch UMLS:C1824808 Unspecified CSPP1 +OMIM:611654 skos:exactMatch HGNC:26193 Unspecified CSPP1 +OMIM:611655 skos:exactMatch HGNC_symbol:PGAP1 Unspecified PGAP1 +OMIM:611655 skos:exactMatch UMLS:C1968837 Unspecified PGAP1 +OMIM:611655 skos:exactMatch HGNC:25712 Unspecified PGAP1 +OMIM:611652 skos:exactMatch HGNC:18554 Unspecified PLA2G12A +OMIM:611652 skos:exactMatch HGNC_symbol:PLA2G12A Unspecified PLA2G12A +OMIM:611652 skos:exactMatch UMLS:C1425595 Unspecified PLA2G12A +OMIM:611653 skos:exactMatch HGNC:18555 Unspecified PLA2G12B +OMIM:611653 skos:exactMatch HGNC_symbol:PLA2G12B Unspecified PLA2G12B +OMIM:611653 skos:exactMatch UMLS:C1425596 Unspecified PLA2G12B +OMIM:611650 skos:exactMatch UMLS:C1968838 Unspecified peripapillary atrophy, beta iia +OMIM:611651 skos:exactMatch HGNC_symbol:PLA2G3 Unspecified PLA2G3 +OMIM:611651 skos:exactMatch HGNC:17934 Unspecified PLA2G3 +OMIM:611651 skos:exactMatch UMLS:C1425188 Unspecified PLA2G3 +OMIM:611660 skos:exactMatch UMLS:C1823120 Unspecified SPSB4 +OMIM:611660 skos:exactMatch HGNC_symbol:SPSB4 Unspecified SPSB4 +OMIM:611660 skos:exactMatch HGNC:30630 Unspecified SPSB4 +OMIM:608011 skos:exactMatch UMLS:C1539588 Unspecified GNL3 +OMIM:608011 skos:exactMatch HGNC_symbol:GNL3 Unspecified GNL3 +OMIM:608011 skos:exactMatch HGNC:29931 Unspecified GNL3 +OMIM:608010 skos:exactMatch UMLS:C4693795 Unspecified NPC1L1 +OMIM:608010 skos:exactMatch UMLS:C1842722 Unspecified NPC1L1 +OMIM:608010 skos:exactMatch UMLS:C1417777 Unspecified NPC1L1 +OMIM:608010 skos:exactMatch HGNC_symbol:NPC1L1 Unspecified NPC1L1 +OMIM:608010 skos:exactMatch HGNC:7898 Unspecified NPC1L1 +OMIM:608015 skos:exactMatch HGNC_symbol:TSKU Unspecified TSKU +OMIM:608015 skos:exactMatch UMLS:C1823517 Unspecified TSKU +OMIM:608015 skos:exactMatch HGNC:28850 Unspecified TSKU +OMIM:608014 skos:exactMatch UMLS:C1837552 Unspecified HSPB8 +OMIM:608014 skos:exactMatch UMLS:C1428937 Unspecified HSPB8 +OMIM:608014 skos:exactMatch HGNC_symbol:HSPB8 Unspecified HSPB8 +OMIM:608014 skos:exactMatch HGNC:30171 Unspecified HSPB8 +OMIM:608014 skos:exactMatch UMLS:C1834692 Unspecified HSPB8 +OMIM:608013 skos:exactMatch ORPHA:85212 Unspecified gaucher disease, perinatal lethal +OMIM:608013 skos:exactMatch ORPHA:355 Unspecified gaucher disease, perinatal lethal +OMIM:608013 skos:exactMatch UMLS:C1842704 Unspecified gaucher disease, perinatal lethal +OMIM:608012 skos:exactMatch UMLS:C1538606 Unspecified PDIA2 +OMIM:608012 skos:exactMatch HGNC:14180 Unspecified PDIA2 +OMIM:608012 skos:exactMatch HGNC_symbol:PDIA2 Unspecified PDIA2 +OMIM:608019 skos:exactMatch HGNC_symbol:TNIP3 Unspecified TNIP3 +OMIM:608019 skos:exactMatch HGNC:19315 Unspecified TNIP3 +OMIM:608019 skos:exactMatch UMLS:C1426159 Unspecified TNIP3 +OMIM:608018 skos:exactMatch HGNC_symbol:PRSS27 Unspecified PRSS27 +OMIM:608018 skos:exactMatch UMLS:C1423515 Unspecified PRSS27 +OMIM:608018 skos:exactMatch HGNC:15475 Unspecified PRSS27 +OMIM:608017 skos:exactMatch HGNC_symbol:FAM162A Unspecified FAM162A +OMIM:608017 skos:exactMatch UMLS:C1824125 Unspecified FAM162A +OMIM:608017 skos:exactMatch HGNC:17865 Unspecified FAM162A +OMIM:608016 skos:exactMatch HGNC_symbol:COA4 Unspecified COA4 +OMIM:608016 skos:exactMatch HGNC:24604 Unspecified COA4 +OMIM:608016 skos:exactMatch UMLS:C1824732 Unspecified COA4 +OMIM:271520 skos:exactMatch UMLS:C1849069 Unspecified spondylocostal dysostosis with anal atresia and urogenital anomalies +OMIM:611649 skos:exactMatch UMLS:C1538397 Unspecified MINDY3 +OMIM:611649 skos:exactMatch HGNC:23578 Unspecified MINDY3 +OMIM:611649 skos:exactMatch HGNC_symbol:MINDY3 Unspecified MINDY3 +OMIM:611647 skos:exactMatch UMLS:C4310762 Unspecified ARV1 +OMIM:611647 skos:exactMatch HGNC_symbol:ARV1 Unspecified ARV1 +OMIM:611647 skos:exactMatch UMLS:C1540200 Unspecified ARV1 +OMIM:611647 skos:exactMatch HGNC:29561 Unspecified ARV1 +OMIM:246560 skos:exactMatch UMLS:C1838652 Unspecified split-hand/foot malformation 3 +OMIM:611648 skos:exactMatch UMLS:C1825476 Unspecified PPIP5K2 +OMIM:611648 skos:exactMatch HGNC:29035 Unspecified PPIP5K2 +OMIM:611648 skos:exactMatch HGNC_symbol:PPIP5K2 Unspecified PPIP5K2 +OMIM:611645 skos:exactMatch HGNC:24593 Unspecified CXXC4 +OMIM:611645 skos:exactMatch UMLS:C1428392 Unspecified CXXC4 +OMIM:611645 skos:exactMatch HGNC_symbol:CXXC4 Unspecified CXXC4 +OMIM:611646 skos:exactMatch HGNC_symbol:SPHKAP Unspecified SPHKAP +OMIM:611646 skos:exactMatch UMLS:C1968839 Unspecified SPHKAP +OMIM:611646 skos:exactMatch HGNC:30619 Unspecified SPHKAP +OMIM:611643 skos:exactMatch UMLS:C1422237 Unspecified ZKSCAN4 +OMIM:611643 skos:exactMatch HGNC_symbol:ZKSCAN4 Unspecified ZKSCAN4 +OMIM:611643 skos:exactMatch HGNC:13854 Unspecified ZKSCAN4 +OMIM:611644 skos:exactMatch UMLS:C1968840 Unspecified hirschsprung disease, susceptibility to, 9 +OMIM:611641 skos:exactMatch HGNC:34400 Unspecified HEPN1 +OMIM:611641 skos:exactMatch HGNC_symbol:HEPN1 Unspecified HEPN1 +OMIM:611641 skos:exactMatch UMLS:C1968842 Unspecified HEPN1 +OMIM:185120 skos:exactMatch UMLS:C1861448 Unspecified stratton-parker syndrome +OMIM:611642 skos:exactMatch HGNC_symbol:HEPACAM Unspecified HEPACAM +OMIM:611642 skos:exactMatch UMLS:C1968841 Unspecified HEPACAM +OMIM:611642 skos:exactMatch HGNC:26361 Unspecified HEPACAM +OMIM:611640 skos:exactMatch HGNC:23527 Unspecified FANK1 +OMIM:611640 skos:exactMatch HGNC_symbol:FANK1 Unspecified FANK1 +OMIM:611640 skos:exactMatch UMLS:C1428124 Unspecified FANK1 +OMIM:608000 skos:exactMatch HGNC:30782 Unspecified NAA15 +OMIM:608000 skos:exactMatch UMLS:C1538040 Unspecified NAA15 +OMIM:608000 skos:exactMatch HGNC_symbol:NAA15 Unspecified NAA15 +OMIM:608004 skos:exactMatch UMLS:C1538057 Unspecified NFKBIZ +OMIM:608004 skos:exactMatch HGNC_symbol:NFKBIZ Unspecified NFKBIZ +OMIM:608004 skos:exactMatch HGNC:29805 Unspecified NFKBIZ +OMIM:246570 skos:exactMatch UMLS:C1855499 Unspecified fibular aplasia, tibial campomelia, and oligosyndactyly syndrome +OMIM:608003 skos:exactMatch UMLS:C1425945 Unspecified HIPK1 +OMIM:608003 skos:exactMatch HGNC_symbol:HIPK1 Unspecified HIPK1 +OMIM:608003 skos:exactMatch HGNC:19006 Unspecified HIPK1 +OMIM:608002 skos:exactMatch HGNC:7907 Unspecified NPHP3 +OMIM:608002 skos:exactMatch UMLS:C1417783 Unspecified NPHP3 +OMIM:608002 skos:exactMatch HGNC_symbol:NPHP3 Unspecified NPHP3 +OMIM:608008 skos:exactMatch UMLS:C1412418 Unspecified ANXA10 +OMIM:608008 skos:exactMatch HGNC_symbol:ANXA10 Unspecified ANXA10 +OMIM:608008 skos:exactMatch HGNC:534 Unspecified ANXA10 +OMIM:608007 skos:exactMatch HGNC_symbol:PLEK2 Unspecified PLEK2 +OMIM:608007 skos:exactMatch HGNC:19238 Unspecified PLEK2 +OMIM:608007 skos:exactMatch UMLS:C1426105 Unspecified PLEK2 +OMIM:608006 skos:exactMatch HGNC_symbol:LMOD2 Unspecified LMOD2 +OMIM:608006 skos:exactMatch HGNC:6648 Unspecified LMOD2 +OMIM:608006 skos:exactMatch UMLS:C1416887 Unspecified LMOD2 +OMIM:608005 skos:exactMatch UMLS:C1822725 Unspecified SIL1 +OMIM:608005 skos:exactMatch HGNC_symbol:SIL1 Unspecified SIL1 +OMIM:608005 skos:exactMatch HGNC:24624 Unspecified SIL1 +OMIM:608005 skos:exactMatch UMLS:C0024814 Unspecified SIL1 +OMIM:271510 skos:exactMatch UMLS:C1300260 Unspecified spondyloepimetaphyseal dysplasia, sponastrime iia +OMIM:271510 skos:exactMatch ORPHA:93357 Unspecified spondyloepimetaphyseal dysplasia, sponastrime iia +OMIM:611638 skos:exactMatch UMLS:C1968843 Unspecified microphthalmia, isolated, with coloboma 5 +OMIM:611639 skos:exactMatch HGNC:37245 Unspecified ZGLP1 +OMIM:611639 skos:exactMatch UMLS:C1999257 Unspecified ZGLP1 +OMIM:611639 skos:exactMatch HGNC_symbol:ZGLP1 Unspecified ZGLP1 +OMIM:611636 skos:exactMatch HGNC_symbol:NAALAD2 Unspecified NAALAD2 +OMIM:611636 skos:exactMatch UMLS:C1422727 Unspecified NAALAD2 +OMIM:611636 skos:exactMatch HGNC:14526 Unspecified NAALAD2 +OMIM:611637 skos:exactMatch UMLS:C1968845 Unspecified primary lateral sclerosis, adult, 1 +OMIM:611634 skos:exactMatch UMLS:C1968846 Unspecified febrile seizures, familial, 9 +OMIM:187790 skos:exactMatch HGNC:11572 Unspecified TARS1 +OMIM:187790 skos:exactMatch UMLS:C1420589 Unspecified TARS1 +OMIM:187790 skos:exactMatch HGNC_symbol:TARS1 Unspecified TARS1 +OMIM:611635 skos:exactMatch HGNC:13802 Unspecified NEUROD4 +OMIM:611635 skos:exactMatch UMLS:C1422201 Unspecified NEUROD4 +OMIM:611635 skos:exactMatch HGNC_symbol:NEUROD4 Unspecified NEUROD4 +OMIM:611632 skos:exactMatch UMLS:C1823578 Unspecified UBIAD1 +OMIM:611632 skos:exactMatch HGNC_symbol:UBIAD1 Unspecified UBIAD1 +OMIM:611632 skos:exactMatch HGNC:30791 Unspecified UBIAD1 +OMIM:611633 skos:exactMatch HGNC_symbol:RTF1 Unspecified RTF1 +OMIM:611633 skos:exactMatch UMLS:C1826949 Unspecified RTF1 +OMIM:611633 skos:exactMatch HGNC:28996 Unspecified RTF1 +OMIM:611630 skos:exactMatch UMLS:C1968848 Unspecified epilepsy, familial temporal lobe, 3 +OMIM:611631 skos:exactMatch UMLS:C1968847 Unspecified epilepsy, familial temporal lobe, 4 +OMIM:185069 skos:exactMatch UMLS:C1861452 Unspecified storm syndrome +OMIM:271500 skos:exactMatch UMLS:C0340826 Unspecified splenoportal vascular anomalies +OMIM:611588 skos:exactMatch UMLS:C1969040 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 +OMIM:611588 skos:exactMatch ORPHA:206554 Unspecified muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4 +OMIM:611589 skos:exactMatch HGNC_symbol:PNPLA5 Unspecified PNPLA5 +OMIM:611589 skos:exactMatch HGNC:24888 Unspecified PNPLA5 +OMIM:611589 skos:exactMatch UMLS:C1538688 Unspecified PNPLA5 +OMIM:611586 skos:exactMatch HGNC:24182 Unspecified C1QL1 +OMIM:611586 skos:exactMatch UMLS:C1538975 Unspecified C1QL1 +OMIM:611586 skos:exactMatch HGNC_symbol:C1QL1 Unspecified C1QL1 +OMIM:611587 skos:exactMatch HGNC:23724 Unspecified ARHGAP19 +OMIM:611587 skos:exactMatch UMLS:C1428225 Unspecified ARHGAP19 +OMIM:611587 skos:exactMatch HGNC_symbol:ARHGAP19 Unspecified ARHGAP19 +OMIM:611584 skos:exactMatch ORPHA:3440 Unspecified waardenburg syndrome, iia 2e +OMIM:611584 skos:exactMatch UMLS:C2700405 Unspecified waardenburg syndrome, iia 2e +OMIM:611584 skos:exactMatch ORPHA:895 Unspecified waardenburg syndrome, iia 2e +OMIM:611585 skos:exactMatch UMLS:C1823264 Unspecified TESC +OMIM:611585 skos:exactMatch HGNC_symbol:TESC Unspecified TESC +OMIM:611585 skos:exactMatch HGNC:26065 Unspecified TESC +OMIM:611593 skos:exactMatch UMLS:C1539794 Unspecified SMR3B +OMIM:611593 skos:exactMatch HGNC:17326 Unspecified SMR3B +OMIM:611593 skos:exactMatch HGNC_symbol:SMR3B Unspecified SMR3B +OMIM:611594 skos:exactMatch HGNC:20071 Unspecified USP39 +OMIM:611594 skos:exactMatch HGNC_symbol:USP39 Unspecified USP39 +OMIM:611594 skos:exactMatch UMLS:C1426659 Unspecified USP39 +OMIM:611591 skos:exactMatch UMLS:C1538707 Unspecified PPBPP2 +OMIM:611591 skos:exactMatch HGNC_symbol:PPBPP2 Unspecified PPBPP2 +OMIM:611591 skos:exactMatch HGNC:16981 Unspecified PPBPP2 +OMIM:611592 skos:exactMatch UMLS:C1539476 Unspecified FARS2 +OMIM:611592 skos:exactMatch HGNC:21062 Unspecified FARS2 +OMIM:611592 skos:exactMatch HGNC_symbol:FARS2 Unspecified FARS2 +OMIM:611590 skos:exactMatch UMLS:C5436235 Unspecified renal tubular acidosis, distal, 4, with hemolytic anemia +OMIM:611590 skos:exactMatch ORPHA:18 Unspecified renal tubular acidosis, distal, 4, with hemolytic anemia +OMIM:611590 skos:exactMatch ORPHA:93610 Unspecified renal tubular acidosis, distal, 4, with hemolytic anemia +OMIM:246555 skos:exactMatch UMLS:C1855501 Unspecified limb defects, distal transverse, with mental retardation and spasticity +OMIM:246550 skos:exactMatch UMLS:C1855502 Unspecified lichtenstein syndrome +OMIM:611579 skos:exactMatch HGNC_symbol:TMEM114 Unspecified TMEM114 +OMIM:611579 skos:exactMatch UMLS:C1969042 Unspecified TMEM114 +OMIM:611579 skos:exactMatch HGNC:33227 Unspecified TMEM114 +OMIM:611577 skos:exactMatch UMLS:C5193134 Unspecified KDM6B +OMIM:611577 skos:exactMatch HGNC:29012 Unspecified KDM6B +OMIM:611577 skos:exactMatch HGNC_symbol:KDM6B Unspecified KDM6B +OMIM:611577 skos:exactMatch UMLS:C2986382 Unspecified KDM6B +OMIM:611577 skos:exactMatch UMLS:C1428772 Unspecified KDM6B +OMIM:185070 skos:exactMatch UMLS:C1861451 Unspecified stormorken syndrome +OMIM:611578 skos:exactMatch HGNC:27622 Unspecified FRRS1 +OMIM:611578 skos:exactMatch UMLS:C1825318 Unspecified FRRS1 +OMIM:611578 skos:exactMatch HGNC_symbol:FRRS1 Unspecified FRRS1 +OMIM:611575 skos:exactMatch HGNC:26320 Unspecified SAMD8 +OMIM:611575 skos:exactMatch HGNC_symbol:SAMD8 Unspecified SAMD8 +OMIM:611575 skos:exactMatch UMLS:C1428572 Unspecified SAMD8 +OMIM:611576 skos:exactMatch HGNC:31498 Unspecified MIR10B +OMIM:611576 skos:exactMatch UMLS:C1537708 Unspecified MIR10B +OMIM:611576 skos:exactMatch HGNC_symbol:MIR10B Unspecified MIR10B +OMIM:161080 skos:exactMatch UMLS:C1834403 Unspecified nail low-sulfur protein +OMIM:611573 skos:exactMatch HGNC_symbol:SGMS1 Unspecified SGMS1 +OMIM:611573 skos:exactMatch HGNC:29799 Unspecified SGMS1 +OMIM:611573 skos:exactMatch UMLS:C1428890 Unspecified SGMS1 +OMIM:611574 skos:exactMatch UMLS:C1969043 Unspecified SGMS2 +OMIM:611574 skos:exactMatch HGNC_symbol:SGMS2 Unspecified SGMS2 +OMIM:611574 skos:exactMatch HGNC:28395 Unspecified SGMS2 +OMIM:611582 skos:exactMatch HGNC:19223 Unspecified FAM12B +OMIM:611582 skos:exactMatch HGNC_symbol:EDDM3B Unspecified FAM12B +OMIM:611582 skos:exactMatch UMLS:C1426098 Unspecified FAM12B +OMIM:611583 skos:exactMatch HGNC_symbol:ARID5A Unspecified ARID5A +OMIM:611583 skos:exactMatch UMLS:C1424934 Unspecified ARID5A +OMIM:611583 skos:exactMatch HGNC:17361 Unspecified ARID5A +OMIM:611580 skos:exactMatch UMLS:C1424671 Unspecified EDDM3A +OMIM:611580 skos:exactMatch HGNC_symbol:EDDM3A Unspecified EDDM3A +OMIM:611580 skos:exactMatch HGNC:16978 Unspecified EDDM3A +OMIM:234580 skos:exactMatch UMLS:C4551980 Unspecified heimler syndrome 1 +OMIM:611568 skos:exactMatch HGNC:26011 Unspecified SYBU +OMIM:611568 skos:exactMatch HGNC_symbol:SYBU Unspecified SYBU +OMIM:611568 skos:exactMatch UMLS:C1969051 Unspecified SYBU +OMIM:611569 skos:exactMatch UMLS:C1413432 Unspecified CKAP2 +OMIM:611569 skos:exactMatch HGNC:1990 Unspecified CKAP2 +OMIM:611569 skos:exactMatch HGNC_symbol:CKAP2 Unspecified CKAP2 +OMIM:611566 skos:exactMatch HGNC:9463 Unspecified PRPS1L1 +OMIM:611566 skos:exactMatch HGNC_symbol:PRPS1L1 Unspecified PRPS1L1 +OMIM:611566 skos:exactMatch UMLS:C1418955 Unspecified PRPS1L1 +OMIM:611567 skos:exactMatch UMLS:C1424006 Unspecified MACROD2 +OMIM:611567 skos:exactMatch HGNC_symbol:MACROD2 Unspecified MACROD2 +OMIM:611567 skos:exactMatch HGNC:16126 Unspecified MACROD2 +OMIM:611564 skos:exactMatch HGNC:13450 Unspecified BANP +OMIM:611564 skos:exactMatch UMLS:C1538317 Unspecified BANP +OMIM:611564 skos:exactMatch HGNC_symbol:BANP Unspecified BANP +OMIM:611565 skos:exactMatch HGNC:26953 Unspecified KIAA1109 +OMIM:611565 skos:exactMatch HGNC_symbol:KIAA1109 Unspecified KIAA1109 +OMIM:611565 skos:exactMatch UMLS:C1537461 Unspecified KIAA1109 +OMIM:611562 skos:exactMatch HGNC_symbol:SEPTIN12 Unspecified SEPT12 +OMIM:611562 skos:exactMatch UMLS:C1822675 Unspecified SEPT12 +OMIM:611562 skos:exactMatch HGNC:26348 Unspecified SEPT12 +OMIM:611563 skos:exactMatch HGNC_symbol:SEPTIN7P2 Unspecified SEPT13 +OMIM:611563 skos:exactMatch UMLS:C1822674 Unspecified SEPT13 +OMIM:611563 skos:exactMatch HGNC:32339 Unspecified SEPT13 +OMIM:258501 skos:exactMatch ORPHA:67047 Unspecified 3-methylglutaconic aciduria, iia 3 +OMIM:258501 skos:exactMatch UMLS:C0574084 Unspecified 3-methylglutaconic aciduria, iia 3 +OMIM:611571 skos:exactMatch UMLS:C1969046 Unspecified otosclerosis 4 +OMIM:611572 skos:exactMatch UMLS:C1969044 Unspecified otosclerosis 7 +OMIM:611570 skos:exactMatch UMLS:C0016756 Unspecified FBP1 +OMIM:611570 skos:exactMatch HGNC_symbol:FBP1 Unspecified FBP1 +OMIM:611570 skos:exactMatch HGNC:3606 Unspecified FBP1 +OMIM:611570 skos:exactMatch UMLS:C1414544 Unspecified FBP1 +OMIM:258500 skos:exactMatch UMLS:C1850281 Unspecified optic atrophy 6 +OMIM:246530 skos:exactMatch UMLS:C1416932 Unspecified LTC4S +OMIM:246530 skos:exactMatch HGNC_symbol:LTC4S Unspecified LTC4S +OMIM:246530 skos:exactMatch HGNC:6719 Unspecified LTC4S +OMIM:611559 skos:exactMatch HGNC_symbol:UPK3A Unspecified UPK3A +OMIM:611559 skos:exactMatch HGNC:12580 Unspecified UPK3A +OMIM:611559 skos:exactMatch UMLS:C1421367 Unspecified UPK3A +OMIM:185050 skos:exactMatch UMLS:C0032197 Unspecified storage pool platelet disease +OMIM:611557 skos:exactMatch HGNC_symbol:UPK1A Unspecified UPK1A +OMIM:611557 skos:exactMatch HGNC:12577 Unspecified UPK1A +OMIM:611557 skos:exactMatch UMLS:C1421364 Unspecified UPK1A +OMIM:611558 skos:exactMatch HGNC_symbol:UPK2 Unspecified UPK2 +OMIM:611558 skos:exactMatch HGNC:12579 Unspecified UPK2 +OMIM:611558 skos:exactMatch UMLS:C1421366 Unspecified UPK2 +OMIM:611555 skos:exactMatch UMLS:C1969055 Unspecified renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies +OMIM:611556 skos:exactMatch ORPHA:137625 Unspecified glycogen storage disease 0, muscle +OMIM:611556 skos:exactMatch UMLS:C1969054 Unspecified glycogen storage disease 0, muscle +OMIM:611553 skos:exactMatch ORPHA:648 Unspecified noonan syndrome 5 +OMIM:611553 skos:exactMatch UMLS:C1969057 Unspecified noonan syndrome 5 +OMIM:611554 skos:exactMatch UMLS:C1969056 Unspecified leopard syndrome 2 +OMIM:611551 skos:exactMatch HGNC:26740 Unspecified FBLN7 +OMIM:611551 skos:exactMatch HGNC_symbol:FBLN7 Unspecified FBLN7 +OMIM:611551 skos:exactMatch UMLS:C1969058 Unspecified FBLN7 +OMIM:611552 skos:exactMatch HGNC_symbol:NAPRT Unspecified NAPRT +OMIM:611552 skos:exactMatch HGNC:30450 Unspecified NAPRT +OMIM:611552 skos:exactMatch UMLS:C1826348 Unspecified NAPRT +OMIM:611560 skos:exactMatch UMLS:C1969053 Unspecified joubert syndrome 7 +OMIM:611561 skos:exactMatch UMLS:C1969052 Unspecified meckel syndrome, iia 5 +OMIM:246500 skos:exactMatch UMLS:C1855504 Unspecified leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis +OMIM:210550 skos:exactMatch UMLS:C0400972 Unspecified biliary malformation with renal tubular insufficiency +OMIM:234500 skos:exactMatch ORPHA:2116 Unspecified hartnup disorder +OMIM:234500 skos:exactMatch UMLS:C0018609 Unspecified hartnup disorder +OMIM:611599 skos:exactMatch UMLS:C1537844 Unspecified MIR206 +OMIM:611599 skos:exactMatch HGNC_symbol:MIR206 Unspecified MIR206 +OMIM:611599 skos:exactMatch HGNC:31584 Unspecified MIR206 +OMIM:611597 skos:exactMatch ORPHA:91492 Unspecified cataract 12, multiple types +OMIM:611597 skos:exactMatch UMLS:C3808115 Unspecified cataract 12, multiple types +OMIM:611598 skos:exactMatch UMLS:C1969031 Unspecified celiac disease, susceptibility to, 6 +OMIM:611598 skos:exactMatch UMLS:C1969030 Unspecified celiac disease, susceptibility to, 6 +OMIM:611595 skos:exactMatch UMLS:C1540140 Unspecified TXNL4A +OMIM:611595 skos:exactMatch UMLS:C1837822 Unspecified TXNL4A +OMIM:611595 skos:exactMatch HGNC_symbol:TXNL4A Unspecified TXNL4A +OMIM:611595 skos:exactMatch HGNC:30551 Unspecified TXNL4A +OMIM:611596 skos:exactMatch HGNC_symbol:DHRS4 Unspecified DHRS4 +OMIM:611596 skos:exactMatch UMLS:C1424673 Unspecified DHRS4 +OMIM:611596 skos:exactMatch HGNC:16985 Unspecified DHRS4 +OMIM:210500 skos:exactMatch UMLS:C4520983 Unspecified biliary atresia, extrahepatic +OMIM:222500 skos:exactMatch UMLS:C0011999 Unspecified diastematomyelia +OMIM:138700 skos:exactMatch HGNC_symbol:APOH Unspecified APOH +OMIM:138700 skos:exactMatch HGNC:616 Unspecified APOH +OMIM:138700 skos:exactMatch UMLS:C1412484 Unspecified APOH +OMIM:138710 skos:exactMatch UMLS:C1841864 Unspecified glycoprotein, renal +OMIM:138720 skos:exactMatch HGNC:4440 Unspecified GP1BB +OMIM:138720 skos:exactMatch UMLS:C1415187 Unspecified GP1BB +OMIM:138720 skos:exactMatch HGNC_symbol:GP1BB Unspecified GP1BB +OMIM:209500 skos:exactMatch UMLS:C1859592 Unspecified atrichia with papular lesions +OMIM:151700 skos:exactMatch UMLS:C1835373 Unspecified lipoma of the conjunctiva +OMIM:187800 skos:exactMatch UMLS:C1861195 Unspecified bleeding disorder, platelet-type, 16 +OMIM:112240 skos:exactMatch UMLS:C4317154 Unspecified cole-carpenter syndrome 1 +OMIM:114890 skos:exactMatch HGNC:1817 Unspecified CEACAM5 +OMIM:114890 skos:exactMatch HGNC_symbol:CEACAM5 Unspecified CEACAM5 +OMIM:114890 skos:exactMatch UMLS:C1332744 Unspecified CEACAM5 +OMIM:148200 skos:exactMatch UMLS:C1835697 Unspecified keratoendotheliitis fugax hereditaria +OMIM:175800 skos:exactMatch UMLS:C0949506 Unspecified porokeratosis 1, multiple types +OMIM:138890 skos:exactMatch HGNC:4612 Unspecified GSC +OMIM:138890 skos:exactMatch UMLS:C1415316 Unspecified GSC +OMIM:138890 skos:exactMatch HGNC_symbol:GSC Unspecified GSC +OMIM:163850 skos:exactMatch UMLS:C1834143 Unspecified noduli cutanei, multiple, with urinary tract abnormalities +OMIM:124200 skos:exactMatch UMLS:C0022595 Unspecified darier-white disease +OMIM:124200 skos:exactMatch UMLS:C1852296 Unspecified darier-white disease +OMIM:124200 skos:exactMatch UMLS:C1852297 Unspecified darier-white disease +OMIM:148210 skos:exactMatch UMLS:C0265336 Unspecified keratitis-ichthyosis-deafness syndrome, autosomal dominant +OMIM:148210 skos:exactMatch ORPHA:477 Unspecified keratitis-ichthyosis-deafness syndrome, autosomal dominant +OMIM:305390 skos:exactMatch UMLS:C1844579 Unspecified exudative vitreoretinopathy 2, X-linked +OMIM:112210 skos:exactMatch UMLS:C1417326 Unspecified MS4A1 +OMIM:112210 skos:exactMatch UMLS:C3150740 Unspecified MS4A1 +OMIM:112210 skos:exactMatch HGNC_symbol:MS4A1 Unspecified MS4A1 +OMIM:112210 skos:exactMatch HGNC:7315 Unspecified MS4A1 +OMIM:209700 skos:exactMatch UMLS:C0263429 Unspecified atrophoderma vermiculata +OMIM:126850 skos:exactMatch UMLS:C1852008 Unspecified duodenal ulcer, hyperpepsinogenemic 1 +OMIM:611708 skos:exactMatch HGNC_symbol:MIR431 Unspecified MIR431 +OMIM:611708 skos:exactMatch HGNC:32027 Unspecified MIR431 +OMIM:611708 skos:exactMatch UMLS:C1826023 Unspecified MIR431 +OMIM:611709 skos:exactMatch HGNC_symbol:MIR127 Unspecified MIR127 +OMIM:611709 skos:exactMatch UMLS:C1537774 Unspecified MIR127 +OMIM:611709 skos:exactMatch HGNC:31509 Unspecified MIR127 +OMIM:611706 skos:exactMatch UMLS:C2673676 Unspecified migraine with or without aura, susceptibility to, 12 +OMIM:112200 skos:exactMatch UMLS:C0346072 Unspecified blue rubber bleb nevus +OMIM:611707 skos:exactMatch HGNC:27279 Unspecified MPZL3 +OMIM:611707 skos:exactMatch HGNC_symbol:MPZL3 Unspecified MPZL3 +OMIM:611707 skos:exactMatch UMLS:C2239757 Unspecified MPZL3 +OMIM:114860 skos:exactMatch HGNC:2311 Unspecified CPM +OMIM:114860 skos:exactMatch HGNC_symbol:CPM Unspecified CPM +OMIM:114860 skos:exactMatch UMLS:C1413672 Unspecified CPM +OMIM:611704 skos:exactMatch UMLS:C1540024 Unspecified TMPRSS11A +OMIM:611704 skos:exactMatch HGNC:27954 Unspecified TMPRSS11A +OMIM:611704 skos:exactMatch HGNC_symbol:TMPRSS11A Unspecified TMPRSS11A +OMIM:611705 skos:exactMatch UMLS:C2673677 Unspecified salih myopathy +OMIM:611702 skos:exactMatch UMLS:C2673686 Unspecified spondylometaphyseal dysplasia, east african iia +OMIM:611703 skos:exactMatch HGNC_symbol:ZNF436 Unspecified ZNF436 +OMIM:611703 skos:exactMatch UMLS:C1427144 Unspecified ZNF436 +OMIM:611703 skos:exactMatch HGNC:20814 Unspecified ZNF436 +OMIM:611700 skos:exactMatch HGNC:27034 Unspecified SVOPL +OMIM:611700 skos:exactMatch HGNC_symbol:SVOPL Unspecified SVOPL +OMIM:611700 skos:exactMatch UMLS:C1968821 Unspecified SVOPL +OMIM:611701 skos:exactMatch HGNC_symbol:SPNS3 Unspecified SPNS3 +OMIM:611701 skos:exactMatch HGNC:28433 Unspecified SPNS3 +OMIM:611701 skos:exactMatch UMLS:C1968820 Unspecified SPNS3 +OMIM:112205 skos:exactMatch HGNC_symbol:CD79A Unspecified CD79A +OMIM:112205 skos:exactMatch HGNC:1698 Unspecified CD79A +OMIM:112205 skos:exactMatch UMLS:C1413238 Unspecified CD79A +OMIM:112203 skos:exactMatch UMLS:C1366561 Unspecified CD80 +OMIM:112203 skos:exactMatch HGNC_symbol:CD80 Unspecified CD80 +OMIM:112203 skos:exactMatch HGNC:1700 Unspecified CD80 +OMIM:126840 skos:exactMatch UMLS:C1852009 Unspecified duodenal ulcer due to antral g-cell hyperfunction +OMIM:175850 skos:exactMatch UMLS:C0162838 Unspecified porokeratosis 2, palmar, plantar, and disseminated iia +OMIM:114852 skos:exactMatch HGNC_symbol:CPB1 Unspecified CPB1 +OMIM:114852 skos:exactMatch HGNC:2299 Unspecified CPB1 +OMIM:114852 skos:exactMatch UMLS:C1413665 Unspecified CPB1 +OMIM:114851 skos:exactMatch HGNC_symbol:CPA3 Unspecified CPA3 +OMIM:114851 skos:exactMatch HGNC:2298 Unspecified CPA3 +OMIM:114851 skos:exactMatch UMLS:C1413664 Unspecified CPA3 +OMIM:114850 skos:exactMatch HGNC:2296 Unspecified CPA1 +OMIM:114850 skos:exactMatch UMLS:C1413662 Unspecified CPA1 +OMIM:114850 skos:exactMatch HGNC_symbol:CPA1 Unspecified CPA1 +OMIM:161200 skos:exactMatch ORPHA:2614 Unspecified nail-patella syndrome +OMIM:161200 skos:exactMatch UMLS:C0027341 Unspecified nail-patella syndrome +OMIM:114855 skos:exactMatch UMLS:C1413668 Unspecified CPE +OMIM:114855 skos:exactMatch HGNC:2303 Unspecified CPE +OMIM:114855 skos:exactMatch HGNC_symbol:CPE Unspecified CPE +OMIM:114840 skos:exactMatch HGNC_symbol:CEL Unspecified CEL +OMIM:114840 skos:exactMatch HGNC:1848 Unspecified CEL +OMIM:114840 skos:exactMatch UMLS:C1413336 Unspecified CEL +OMIM:114840 skos:exactMatch UMLS:C1413337 Unspecified CEL +OMIM:163890 skos:exactMatch HGNC_symbol:SNCA Unspecified SNCA +OMIM:163890 skos:exactMatch HGNC:11138 Unspecified SNCA +OMIM:163890 skos:exactMatch UMLS:C0752347 Unspecified SNCA +OMIM:163890 skos:exactMatch UMLS:C1868595 Unspecified SNCA +OMIM:163890 skos:exactMatch UMLS:C1854182 Unspecified SNCA +OMIM:163890 skos:exactMatch UMLS:C1420276 Unspecified SNCA +OMIM:268080 skos:exactMatch UMLS:C1849397 Unspecified retinoschisis of fovea +OMIM:114830 skos:exactMatch HGNC_symbol:CBR1 Unspecified CBR1 +OMIM:114830 skos:exactMatch HGNC:1548 Unspecified CBR1 +OMIM:114830 skos:exactMatch UMLS:C1413154 Unspecified CBR1 +OMIM:114835 skos:exactMatch HGNC_symbol:CES1 Unspecified CES1 +OMIM:114835 skos:exactMatch HGNC:1863 Unspecified CES1 +OMIM:114835 skos:exactMatch UMLS:C1413347 Unspecified CES1 +OMIM:173200 skos:exactMatch UMLS:C0032027 Unspecified pityriasis rubra pilaris +OMIM:100200 skos:exactMatch UMLS:C4551519 Unspecified abducens palsy +OMIM:175860 skos:exactMatch UMLS:C1867982 Unspecified palmoplantar keratoderma, punctate iia 2 +OMIM:611748 skos:exactMatch UMLS:C1826525 Unspecified OTUD7B +OMIM:611748 skos:exactMatch HGNC:16683 Unspecified OTUD7B +OMIM:611748 skos:exactMatch HGNC_symbol:OTUD7B Unspecified OTUD7B +OMIM:611749 skos:exactMatch UMLS:C1425380 Unspecified ZRANB1 +OMIM:611749 skos:exactMatch HGNC_symbol:ZRANB1 Unspecified ZRANB1 +OMIM:611749 skos:exactMatch HGNC:18224 Unspecified ZRANB1 +OMIM:611746 skos:exactMatch HGNC:13441 Unspecified SCUBE1 +OMIM:611746 skos:exactMatch HGNC_symbol:SCUBE1 Unspecified SCUBE1 +OMIM:611746 skos:exactMatch UMLS:C1421995 Unspecified SCUBE1 +OMIM:611747 skos:exactMatch HGNC:30425 Unspecified SCUBE2 +OMIM:611747 skos:exactMatch HGNC_symbol:SCUBE2 Unspecified SCUBE2 +OMIM:611747 skos:exactMatch UMLS:C1539733 Unspecified SCUBE2 +OMIM:611744 skos:exactMatch HGNC_symbol:OTUD4 Unspecified OTUD4 +OMIM:611744 skos:exactMatch HGNC:24949 Unspecified OTUD4 +OMIM:611744 skos:exactMatch UMLS:C1826520 Unspecified OTUD4 +OMIM:611745 skos:exactMatch HGNC_symbol:VCPIP1 Unspecified VCPIP1 +OMIM:611745 skos:exactMatch HGNC:30897 Unspecified VCPIP1 +OMIM:611745 skos:exactMatch UMLS:C1540173 Unspecified VCPIP1 +OMIM:611742 skos:exactMatch UMLS:C2673200 Unspecified skin/hair/eye pigmentation, variation in, 9 +OMIM:611743 skos:exactMatch HGNC:25562 Unspecified PLEKHG6 +OMIM:611743 skos:exactMatch HGNC_symbol:PLEKHG6 Unspecified PLEKHG6 +OMIM:611743 skos:exactMatch UMLS:C1826597 Unspecified PLEKHG6 +OMIM:611740 skos:exactMatch HGNC:18503 Unspecified BCO2 +OMIM:611740 skos:exactMatch HGNC_symbol:BCO2 Unspecified BCO2 +OMIM:611740 skos:exactMatch UMLS:C1425564 Unspecified BCO2 +OMIM:611741 skos:exactMatch HGNC:101 Unspecified ASIC3 +OMIM:611741 skos:exactMatch HGNC_symbol:ASIC3 Unspecified ASIC3 +OMIM:611741 skos:exactMatch UMLS:C1412116 Unspecified ASIC3 +OMIM:608103 skos:exactMatch UMLS:C2931002 Unspecified ALG8 +OMIM:608103 skos:exactMatch UMLS:C1427957 Unspecified ALG8 +OMIM:608103 skos:exactMatch UMLS:C4694013 Unspecified ALG8 +OMIM:608103 skos:exactMatch UMLS:C4694014 Unspecified ALG8 +OMIM:608103 skos:exactMatch HGNC_symbol:ALG8 Unspecified ALG8 +OMIM:608103 skos:exactMatch HGNC:23161 Unspecified ALG8 +OMIM:608102 skos:exactMatch UMLS:C1413497 Unspecified CLN5 +OMIM:608102 skos:exactMatch HGNC_symbol:CLN5 Unspecified CLN5 +OMIM:608102 skos:exactMatch UMLS:C1850442 Unspecified CLN5 +OMIM:608102 skos:exactMatch HGNC:2076 Unspecified CLN5 +OMIM:608101 skos:exactMatch HGNC_symbol:H1-9P Unspecified None +OMIM:608101 skos:exactMatch HGNC:30616 Unspecified None +OMIM:608101 skos:exactMatch UMLS:C1825474 Unspecified None +OMIM:608100 skos:exactMatch UMLS:C1826399 Unspecified NFU1 +OMIM:608100 skos:exactMatch HGNC_symbol:NFU1 Unspecified NFU1 +OMIM:608100 skos:exactMatch HGNC:16287 Unspecified NFU1 +OMIM:608107 skos:exactMatch HGNC_symbol:MEFV Unspecified MEFV +OMIM:608107 skos:exactMatch UMLS:C1851347 Unspecified MEFV +OMIM:608107 skos:exactMatch UMLS:C0031069 Unspecified MEFV +OMIM:608107 skos:exactMatch UMLS:C0085077 Unspecified MEFV +OMIM:608107 skos:exactMatch HGNC:6998 Unspecified MEFV +OMIM:608107 skos:exactMatch UMLS:C1417104 Unspecified MEFV +OMIM:608107 skos:exactMatch UMLS:C4015968 Unspecified MEFV +OMIM:608106 skos:exactMatch UMLS:C1720958 Unspecified immunodeficiency with hyper-igm, iia 5 +OMIM:126800 skos:exactMatch UMLS:C0994516 Unspecified duane retraction syndrome 1 +OMIM:126800 skos:exactMatch UMLS:C0013261 Unspecified duane retraction syndrome 1 +OMIM:608105 skos:exactMatch UMLS:C1842531 Unspecified epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp +OMIM:608104 skos:exactMatch UMLS:C2931002 Unspecified congenital disorder of glycosylation, iia ih +OMIM:268060 skos:exactMatch UMLS:C1849398 Unspecified retinopathy, pericentral pigmentary, autosomal recessive +OMIM:611739 skos:exactMatch UMLS:C2678504 Unspecified bone mineral density quantitative trait locus 8 +OMIM:611737 skos:exactMatch HGNC_symbol:SEPTIN10 Unspecified SEPT10 +OMIM:611737 skos:exactMatch HGNC:14349 Unspecified SEPT10 +OMIM:611737 skos:exactMatch UMLS:C1422584 Unspecified SEPT10 +OMIM:611738 skos:exactMatch UMLS:C2673201 Unspecified bone mineral density quantitative trait locus 7 +OMIM:611735 skos:exactMatch HGNC_symbol:CDCP1 Unspecified CDCP1 +OMIM:611735 skos:exactMatch HGNC:24357 Unspecified CDCP1 +OMIM:611735 skos:exactMatch UMLS:C1540305 Unspecified CDCP1 +OMIM:611736 skos:exactMatch HGNC:24885 Unspecified None +OMIM:611736 skos:exactMatch HGNC_symbol:GREB1 Unspecified None +OMIM:611736 skos:exactMatch UMLS:C2673202 Unspecified None +OMIM:611733 skos:exactMatch UMLS:C2673203 Unspecified dauwerse-peters syndrome +OMIM:611734 skos:exactMatch UMLS:C1823841 Unspecified WDR77 +OMIM:611734 skos:exactMatch HGNC_symbol:WDR77 Unspecified WDR77 +OMIM:611734 skos:exactMatch HGNC:29652 Unspecified WDR77 +OMIM:611731 skos:exactMatch UMLS:C0032580 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C4017262 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C4017261 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C1833970 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C4310860 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C1861807 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C0162832 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C4015935 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C1860985 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C2673229 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C2673224 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C2673218 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C1969388 Unspecified APC +OMIM:611731 skos:exactMatch HGNC_symbol:APC Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C2986382 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C0017097 Unspecified APC +OMIM:611731 skos:exactMatch HGNC:583 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C1851124 Unspecified APC +OMIM:611731 skos:exactMatch UMLS:C3469522 Unspecified APC +OMIM:114815 skos:exactMatch HGNC_symbol:CA8 Unspecified CA8 +OMIM:114815 skos:exactMatch HGNC:1382 Unspecified CA8 +OMIM:114815 skos:exactMatch UMLS:C1413051 Unspecified CA8 +OMIM:611732 skos:exactMatch HGNC_symbol:MBOAT1 Unspecified MBOAT1 +OMIM:611732 skos:exactMatch HGNC:21579 Unspecified MBOAT1 +OMIM:611732 skos:exactMatch UMLS:C1427626 Unspecified MBOAT1 +OMIM:611730 skos:exactMatch HGNC_symbol:EPB41L5 Unspecified EPB41L5 +OMIM:611730 skos:exactMatch HGNC:19819 Unspecified EPB41L5 +OMIM:611730 skos:exactMatch UMLS:C1426448 Unspecified EPB41L5 +OMIM:268050 skos:exactMatch UMLS:C0796072 Unspecified retinopathy, pigmentary, and mental retardation +OMIM:268050 skos:exactMatch ORPHA:3084 Unspecified retinopathy, pigmentary, and mental retardation +OMIM:611728 skos:exactMatch HGNC:25878 Unspecified PRR5L +OMIM:611728 skos:exactMatch UMLS:C2673256 Unspecified PRR5L +OMIM:611728 skos:exactMatch HGNC_symbol:PRR5L Unspecified PRR5L +OMIM:611729 skos:exactMatch UMLS:C1825716 Unspecified KLC2 +OMIM:611729 skos:exactMatch HGNC:20716 Unspecified KLC2 +OMIM:611729 skos:exactMatch HGNC_symbol:KLC2 Unspecified KLC2 +OMIM:185200 skos:exactMatch UMLS:C1861447 Unspecified striae distensae, familial +OMIM:611726 skos:exactMatch UMLS:C2673257 Unspecified epilepsy, progressive myoclonic, 3, with or without intracellular inclusions +OMIM:611727 skos:exactMatch UMLS:C1823220 Unspecified C1ORF76 +OMIM:611727 skos:exactMatch HGNC:28274 Unspecified C1ORF76 +OMIM:611727 skos:exactMatch HGNC_symbol:FAM163A Unspecified C1ORF76 +OMIM:611724 skos:exactMatch UMLS:C2673265 Unspecified skin/hair/eye pigmentation, variation in, 8 +OMIM:611725 skos:exactMatch HGNC:21957 Unspecified KCTD7 +OMIM:611725 skos:exactMatch UMLS:C1427750 Unspecified KCTD7 +OMIM:611725 skos:exactMatch HGNC_symbol:KCTD7 Unspecified KCTD7 +OMIM:256050 skos:exactMatch UMLS:C1850555 Unspecified atelosteogenesis, iia 2 +OMIM:256050 skos:exactMatch UMLS:C1850554 Unspecified atelosteogenesis, iia 2 +OMIM:611722 skos:exactMatch UMLS:C2673266 Unspecified krabbe disease, atypical, due to saposin a deficiency +OMIM:611723 skos:exactMatch HGNC_symbol:LINC00114 Unspecified C21ORF24 +OMIM:611723 skos:exactMatch UMLS:C1412951 Unspecified C21ORF24 +OMIM:611723 skos:exactMatch HGNC:1265 Unspecified C21ORF24 +OMIM:611720 skos:exactMatch HGNC:14282 Unspecified IRF2BPL +OMIM:611720 skos:exactMatch HGNC_symbol:IRF2BPL Unspecified IRF2BPL +OMIM:611720 skos:exactMatch UMLS:C1422540 Unspecified IRF2BPL +OMIM:611721 skos:exactMatch UMLS:C2673635 Unspecified combined saposin deficiency +OMIM:114800 skos:exactMatch HGNC_symbol:CA1 Unspecified CA1 +OMIM:114800 skos:exactMatch HGNC:1368 Unspecified CA1 +OMIM:114800 skos:exactMatch UMLS:C1413038 Unspecified CA1 +OMIM:268040 skos:exactMatch UMLS:C1849399 Unspecified retinohepatoendocrinologic syndrome +OMIM:268040 skos:exactMatch ORPHA:3087 Unspecified retinohepatoendocrinologic syndrome +OMIM:611719 skos:exactMatch UMLS:C2673642 Unspecified combined oxidative phosphorylation deficiency 5 +OMIM:268025 skos:exactMatch UMLS:C1849400 Unspecified retinitis pigmentosa, late-adult onset +OMIM:611717 skos:exactMatch UMLS:C2673649 Unspecified spondyloepiphyseal dysplasia-brachydactyly and distinctive speech +OMIM:611718 skos:exactMatch UMLS:C2673648 Unspecified hypomagnesemia 4, renal +OMIM:611715 skos:exactMatch HGNC:25812 Unspecified SRD5A3 +OMIM:611715 skos:exactMatch HGNC_symbol:SRD5A3 Unspecified SRD5A3 +OMIM:611715 skos:exactMatch UMLS:C2240046 Unspecified SRD5A3 +OMIM:611716 skos:exactMatch HGNC_symbol:ATP6V0A2 Unspecified ATP6V0A2 +OMIM:611716 skos:exactMatch UMLS:C1425544 Unspecified ATP6V0A2 +OMIM:611716 skos:exactMatch UMLS:C0268355 Unspecified ATP6V0A2 +OMIM:611716 skos:exactMatch UMLS:C0406587 Unspecified ATP6V0A2 +OMIM:611716 skos:exactMatch HGNC:18481 Unspecified ATP6V0A2 +OMIM:611713 skos:exactMatch HGNC:32315 Unspecified TCTEX1D4 +OMIM:611713 skos:exactMatch HGNC_symbol:DYNLT4 Unspecified TCTEX1D4 +OMIM:611713 skos:exactMatch UMLS:C2240074 Unspecified TCTEX1D4 +OMIM:611714 skos:exactMatch HGNC_symbol:GAPVD1 Unspecified GAPVD1 +OMIM:611714 skos:exactMatch UMLS:C1539548 Unspecified GAPVD1 +OMIM:611714 skos:exactMatch HGNC:23375 Unspecified GAPVD1 +OMIM:611711 skos:exactMatch HGNC:32026 Unspecified MIR433 +OMIM:611711 skos:exactMatch UMLS:C1826025 Unspecified MIR433 +OMIM:611711 skos:exactMatch HGNC_symbol:MIR433 Unspecified MIR433 +OMIM:611712 skos:exactMatch UMLS:C1425946 Unspecified HIPK4 +OMIM:611712 skos:exactMatch HGNC_symbol:HIPK4 Unspecified HIPK4 +OMIM:611712 skos:exactMatch HGNC:19007 Unspecified HIPK4 +OMIM:611710 skos:exactMatch HGNC:31522 Unspecified MIR136 +OMIM:611710 skos:exactMatch HGNC_symbol:MIR136 Unspecified MIR136 +OMIM:611710 skos:exactMatch UMLS:C1537789 Unspecified MIR136 +OMIM:271665 skos:exactMatch UMLS:C1849011 Unspecified spondylometaepiphyseal dysplasia, short limb-hand iia +OMIM:271665 skos:exactMatch ORPHA:93358 Unspecified spondylometaepiphyseal dysplasia, short limb-hand iia +OMIM:268010 skos:exactMatch UMLS:C1849405 Unspecified retinitis pigmentosa inversa with deafness +OMIM:611788 skos:exactMatch UMLS:C2673186 Unspecified aortic aneurysm, familial thoracic 6 +OMIM:185260 skos:exactMatch HGNC_symbol:MMP10 Unspecified MMP10 +OMIM:185260 skos:exactMatch UMLS:C1417200 Unspecified MMP10 +OMIM:185260 skos:exactMatch HGNC:7156 Unspecified MMP10 +OMIM:611789 skos:exactMatch HGNC_symbol:SLC9B2 Unspecified NHEDC2 +OMIM:611789 skos:exactMatch HGNC:25143 Unspecified NHEDC2 +OMIM:611789 skos:exactMatch UMLS:C2239781 Unspecified NHEDC2 +OMIM:611786 skos:exactMatch HGNC:14014 Unspecified MEMO1 +OMIM:611786 skos:exactMatch HGNC_symbol:MEMO1 Unspecified MEMO1 +OMIM:611786 skos:exactMatch UMLS:C1422348 Unspecified MEMO1 +OMIM:256030 skos:exactMatch UMLS:C1850569 Unspecified nemaline myopathy 2 +OMIM:611787 skos:exactMatch HGNC:27015 Unspecified CMPK2 +OMIM:611787 skos:exactMatch UMLS:C2239305 Unspecified CMPK2 +OMIM:611787 skos:exactMatch HGNC_symbol:CMPK2 Unspecified CMPK2 +OMIM:611784 skos:exactMatch UMLS:C1427178 Unspecified GTF3C6 +OMIM:611784 skos:exactMatch HGNC:20872 Unspecified GTF3C6 +OMIM:611784 skos:exactMatch HGNC_symbol:GTF3C6 Unspecified GTF3C6 +OMIM:219080 skos:exactMatch UMLS:C1857451 Unspecified acth-independent macronodular adrenal hyperplasia +OMIM:611785 skos:exactMatch HGNC_symbol:ABCB5 Unspecified ABCB5 +OMIM:611785 skos:exactMatch HGNC:46 Unspecified ABCB5 +OMIM:611785 skos:exactMatch UMLS:C1412072 Unspecified ABCB5 +OMIM:611782 skos:exactMatch HGNC_symbol:DSCAML1 Unspecified DSCAML1 +OMIM:611782 skos:exactMatch HGNC:14656 Unspecified DSCAML1 +OMIM:611782 skos:exactMatch UMLS:C1422818 Unspecified DSCAML1 +OMIM:185261 skos:exactMatch HGNC_symbol:MMP11 Unspecified MMP11 +OMIM:185261 skos:exactMatch UMLS:C1366519 Unspecified MMP11 +OMIM:185261 skos:exactMatch HGNC:7157 Unspecified MMP11 +OMIM:611783 skos:exactMatch UMLS:C2673187 Unspecified erythrocytosis, familial, 4 +OMIM:611791 skos:exactMatch HGNC:24776 Unspecified PTCHD3 +OMIM:611791 skos:exactMatch HGNC_symbol:PTCHD3 Unspecified PTCHD3 +OMIM:611791 skos:exactMatch UMLS:C1826734 Unspecified PTCHD3 +OMIM:611792 skos:exactMatch HGNC:22917 Unspecified ZCCHC4 +OMIM:611792 skos:exactMatch UMLS:C1427776 Unspecified ZCCHC4 +OMIM:611792 skos:exactMatch HGNC_symbol:ZCCHC4 Unspecified ZCCHC4 +OMIM:611790 skos:exactMatch UMLS:C1426047 Unspecified MYRIP +OMIM:611790 skos:exactMatch HGNC_symbol:MYRIP Unspecified MYRIP +OMIM:611790 skos:exactMatch HGNC:19156 Unspecified MYRIP +OMIM:608143 skos:exactMatch UMLS:C1826612 Unspecified AGPAT6 +OMIM:608143 skos:exactMatch HGNC_symbol:GPAT4 Unspecified AGPAT6 +OMIM:608143 skos:exactMatch HGNC:20880 Unspecified AGPAT6 +OMIM:256020 skos:exactMatch ORPHA:2613 Unspecified focal segmental glomerulosclerosis 10 +OMIM:256020 skos:exactMatch UMLS:C0403548 Unspecified focal segmental glomerulosclerosis 10 +OMIM:608142 skos:exactMatch HGNC_symbol:HSCB Unspecified HSCB +OMIM:608142 skos:exactMatch UMLS:C1825526 Unspecified HSCB +OMIM:608142 skos:exactMatch HGNC:28913 Unspecified HSCB +OMIM:608141 skos:exactMatch HGNC_symbol:NUP43 Unspecified NUP43 +OMIM:608141 skos:exactMatch HGNC:21182 Unspecified NUP43 +OMIM:608141 skos:exactMatch UMLS:C1427394 Unspecified NUP43 +OMIM:608140 skos:exactMatch UMLS:C1538502 Unspecified NUP35 +OMIM:608140 skos:exactMatch HGNC_symbol:NUP35 Unspecified NUP35 +OMIM:608140 skos:exactMatch HGNC:29797 Unspecified NUP35 +OMIM:608147 skos:exactMatch UMLS:C1425638 Unspecified TUBGCP5 +OMIM:608147 skos:exactMatch HGNC_symbol:TUBGCP5 Unspecified TUBGCP5 +OMIM:608147 skos:exactMatch HGNC:18600 Unspecified TUBGCP5 +OMIM:305371 skos:exactMatch UMLS:C1333663 Unspecified GATA1 +OMIM:305371 skos:exactMatch HGNC:4170 Unspecified GATA1 +OMIM:305371 skos:exactMatch HGNC_symbol:GATA1 Unspecified GATA1 +OMIM:608146 skos:exactMatch UMLS:C1538062 Unspecified NIPA2 +OMIM:608146 skos:exactMatch HGNC:17044 Unspecified NIPA2 +OMIM:608146 skos:exactMatch HGNC_symbol:NIPA2 Unspecified NIPA2 +OMIM:305370 skos:exactMatch HGNC:11820 Unspecified TIMP1 +OMIM:305370 skos:exactMatch UMLS:C1367459 Unspecified TIMP1 +OMIM:305370 skos:exactMatch HGNC_symbol:TIMP1 Unspecified TIMP1 +OMIM:608145 skos:exactMatch UMLS:C1424705 Unspecified NIPA1 +OMIM:608145 skos:exactMatch HGNC:17043 Unspecified NIPA1 +OMIM:608145 skos:exactMatch HGNC_symbol:NIPA1 Unspecified NIPA1 +OMIM:608144 skos:exactMatch UMLS:C1424853 Unspecified SPDEF +OMIM:608144 skos:exactMatch HGNC_symbol:SPDEF Unspecified SPDEF +OMIM:608144 skos:exactMatch HGNC:17257 Unspecified SPDEF +OMIM:268020 skos:exactMatch UMLS:C1849401 Unspecified retinitis pigmentosa, deafness, mental retardation, and hypogonadism +OMIM:608149 skos:exactMatch UMLS:C1842466 Unspecified kagami-ogata syndrome +OMIM:608148 skos:exactMatch HGNC_symbol:SATB2 Unspecified SATB2 +OMIM:608148 skos:exactMatch HGNC:21637 Unspecified SATB2 +OMIM:608148 skos:exactMatch UMLS:C1427665 Unspecified SATB2 +OMIM:268000 skos:exactMatch ORPHA:791 Unspecified retinitis pigmentosa +OMIM:268000 skos:exactMatch UMLS:C0035334 Unspecified retinitis pigmentosa +OMIM:271650 skos:exactMatch UMLS:C0432213 Unspecified spondyloepimetaphyseal dysplasia, irapa iia +OMIM:611779 skos:exactMatch HGNC:20494 Unspecified FSCB +OMIM:611779 skos:exactMatch HGNC_symbol:FSCB Unspecified FSCB +OMIM:611779 skos:exactMatch UMLS:C1539043 Unspecified FSCB +OMIM:232050 skos:exactMatch HGNC:8654 Unspecified PCCB +OMIM:232050 skos:exactMatch UMLS:C0268579 Unspecified PCCB +OMIM:232050 skos:exactMatch HGNC_symbol:PCCB Unspecified PCCB +OMIM:232050 skos:exactMatch UMLS:C1418304 Unspecified PCCB +OMIM:611777 skos:exactMatch UMLS:C2673193 Unspecified brugada syndrome 2 +OMIM:611778 skos:exactMatch UMLS:C1539599 Unspecified GPD1L +OMIM:611778 skos:exactMatch HGNC_symbol:GPD1L Unspecified GPD1L +OMIM:611778 skos:exactMatch HGNC:28956 Unspecified GPD1L +OMIM:219095 skos:exactMatch UMLS:C1857449 Unspecified cutaneous photosensitivity and colitis, lethal +OMIM:611775 skos:exactMatch UMLS:C0026691 Unspecified kawasaki disease +OMIM:611775 skos:exactMatch UMLS:C2936917 Unspecified kawasaki disease +OMIM:611775 skos:exactMatch ORPHA:2331 Unspecified kawasaki disease +OMIM:256040 skos:exactMatch UMLS:C1850568 Unspecified proteasome-associated autoinflammatory syndrome 1 +OMIM:256040 skos:exactMatch UMLS:C4749059 Unspecified proteasome-associated autoinflammatory syndrome 1 +OMIM:256040 skos:exactMatch UMLS:C4746851 Unspecified proteasome-associated autoinflammatory syndrome 1 +OMIM:611776 skos:exactMatch HGNC_symbol:NDUFAF4 Unspecified NDUFAF4 +OMIM:611776 skos:exactMatch HGNC:21034 Unspecified NDUFAF4 +OMIM:611776 skos:exactMatch UMLS:C1427260 Unspecified NDUFAF4 +OMIM:219090 skos:exactMatch UMLS:C0221406 Unspecified pituitary adenoma 4, acth-secreting +OMIM:611773 skos:exactMatch UMLS:C2673195 Unspecified angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps +OMIM:611774 skos:exactMatch UMLS:C1537775 Unspecified MIR128-1 +OMIM:611774 skos:exactMatch HGNC_symbol:MIR128-1 Unspecified MIR128-1 +OMIM:611774 skos:exactMatch HGNC:31510 Unspecified MIR128-1 +OMIM:611771 skos:exactMatch UMLS:C2673196 Unspecified lipoprotein glomerulopathy +OMIM:611772 skos:exactMatch UMLS:C1826495 Unspecified NUF2 +OMIM:611772 skos:exactMatch HGNC_symbol:NUF2 Unspecified NUF2 +OMIM:611772 skos:exactMatch HGNC:14621 Unspecified NUF2 +OMIM:611780 skos:exactMatch HGNC_symbol:PHRF1 Unspecified PHRF1 +OMIM:611780 skos:exactMatch HGNC:24351 Unspecified PHRF1 +OMIM:611780 skos:exactMatch UMLS:C2673188 Unspecified PHRF1 +OMIM:611781 skos:exactMatch HGNC_symbol:PRDM14 Unspecified PRDM14 +OMIM:611781 skos:exactMatch HGNC:14001 Unspecified PRDM14 +OMIM:611781 skos:exactMatch UMLS:C1422338 Unspecified PRDM14 +OMIM:102800 skos:exactMatch UMLS:C1863225 Unspecified adenosine triphosphatase deficiency, anemia due to +OMIM:608132 skos:exactMatch HGNC_symbol:TTC8 Unspecified TTC8 +OMIM:608132 skos:exactMatch HGNC:20087 Unspecified TTC8 +OMIM:608132 skos:exactMatch UMLS:C1426673 Unspecified TTC8 +OMIM:608131 skos:exactMatch HGNC_symbol:NUAK2 Unspecified NUAK2 +OMIM:608131 skos:exactMatch UMLS:C1826484 Unspecified NUAK2 +OMIM:608131 skos:exactMatch HGNC:29558 Unspecified NUAK2 +OMIM:608130 skos:exactMatch HGNC_symbol:NUAK1 Unspecified NUAK1 +OMIM:608130 skos:exactMatch UMLS:C1826483 Unspecified NUAK1 +OMIM:608130 skos:exactMatch HGNC:14311 Unspecified NUAK1 +OMIM:608136 skos:exactMatch HGNC_symbol:ARHGEF10 Unspecified ARHGEF10 +OMIM:608136 skos:exactMatch UMLS:C1422408 Unspecified ARHGEF10 +OMIM:608136 skos:exactMatch HGNC:14103 Unspecified ARHGEF10 +OMIM:608135 skos:exactMatch UMLS:C1423015 Unspecified ASPN +OMIM:608135 skos:exactMatch HGNC:14872 Unspecified ASPN +OMIM:608135 skos:exactMatch UMLS:C2675551 Unspecified ASPN +OMIM:608135 skos:exactMatch UMLS:C2675609 Unspecified ASPN +OMIM:608135 skos:exactMatch HGNC_symbol:ASPN Unspecified ASPN +OMIM:608134 skos:exactMatch HGNC_symbol:PALM Unspecified PALM +OMIM:608134 skos:exactMatch UMLS:C1418262 Unspecified PALM +OMIM:608134 skos:exactMatch HGNC:8594 Unspecified PALM +OMIM:608133 skos:exactMatch UMLS:C2675552 Unspecified retinitis pigmentosa 7 +OMIM:608133 skos:exactMatch UMLS:C4013102 Unspecified retinitis pigmentosa 7 +OMIM:608133 skos:exactMatch UMLS:C1842475 Unspecified retinitis pigmentosa 7 +OMIM:608139 skos:exactMatch HGNC_symbol:CENPV Unspecified CENPV +OMIM:608139 skos:exactMatch UMLS:C1538722 Unspecified CENPV +OMIM:608139 skos:exactMatch HGNC:29920 Unspecified CENPV +OMIM:608138 skos:exactMatch HGNC:8767 Unspecified PDCD7 +OMIM:608138 skos:exactMatch UMLS:C1418408 Unspecified PDCD7 +OMIM:608138 skos:exactMatch HGNC_symbol:PDCD7 Unspecified PDCD7 +OMIM:608137 skos:exactMatch UMLS:C4017143 Unspecified NSMF +OMIM:608137 skos:exactMatch UMLS:C4017142 Unspecified NSMF +OMIM:608137 skos:exactMatch UMLS:C1428897 Unspecified NSMF +OMIM:608137 skos:exactMatch HGNC:29843 Unspecified NSMF +OMIM:608137 skos:exactMatch HGNC_symbol:NSMF Unspecified NSMF +OMIM:608119 skos:exactMatch HGNC:20164 Unspecified None +OMIM:608119 skos:exactMatch UMLS:C1426748 Unspecified None +OMIM:608119 skos:exactMatch HGNC_symbol:HOMEZ Unspecified None +OMIM:271640 skos:exactMatch UMLS:C0432243 Unspecified spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures +OMIM:271640 skos:exactMatch ORPHA:93359 Unspecified spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures +OMIM:611768 skos:exactMatch UMLS:C1537879 Unspecified MIR335 +OMIM:611768 skos:exactMatch HGNC_symbol:MIR335 Unspecified MIR335 +OMIM:611768 skos:exactMatch HGNC:31773 Unspecified MIR335 +OMIM:611769 skos:exactMatch UMLS:C1537776 Unspecified MIR128-2 +OMIM:611769 skos:exactMatch HGNC_symbol:MIR128-2 Unspecified MIR128-2 +OMIM:611769 skos:exactMatch HGNC:31511 Unspecified MIR128-2 +OMIM:611766 skos:exactMatch UMLS:C1826321 Unspecified MTFMT +OMIM:611766 skos:exactMatch HGNC:29666 Unspecified MTFMT +OMIM:611766 skos:exactMatch HGNC_symbol:MTFMT Unspecified MTFMT +OMIM:611767 skos:exactMatch HGNC_symbol:MIR126 Unspecified MIR126 +OMIM:611767 skos:exactMatch UMLS:C1537773 Unspecified MIR126 +OMIM:611767 skos:exactMatch HGNC:31508 Unspecified MIR126 +OMIM:611764 skos:exactMatch HGNC:30183 Unspecified CNFN +OMIM:611764 skos:exactMatch HGNC_symbol:CNFN Unspecified CNFN +OMIM:611764 skos:exactMatch UMLS:C1539111 Unspecified CNFN +OMIM:611765 skos:exactMatch UMLS:C2239905 Unspecified ASPRV1 +OMIM:611765 skos:exactMatch UMLS:C0432304 Unspecified ASPRV1 +OMIM:611765 skos:exactMatch HGNC:26321 Unspecified ASPRV1 +OMIM:611765 skos:exactMatch HGNC_symbol:ASPRV1 Unspecified ASPRV1 +OMIM:611762 skos:exactMatch UMLS:C2673198 Unspecified familial cold autoinflammatory syndrome 2 +OMIM:611763 skos:exactMatch UMLS:C1825795 Unspecified LBH +OMIM:611763 skos:exactMatch HGNC:29532 Unspecified LBH +OMIM:611763 skos:exactMatch HGNC_symbol:LBH Unspecified LBH +OMIM:611760 skos:exactMatch UMLS:C1422527 Unspecified PCDH17 +OMIM:611760 skos:exactMatch HGNC:14267 Unspecified PCDH17 +OMIM:611760 skos:exactMatch HGNC_symbol:PCDH17 Unspecified PCDH17 +OMIM:611761 skos:exactMatch UMLS:C1823374 Unspecified LMF1 +OMIM:611761 skos:exactMatch HGNC_symbol:LMF1 Unspecified LMF1 +OMIM:611761 skos:exactMatch HGNC:14154 Unspecified LMF1 +OMIM:611770 skos:exactMatch UMLS:C1826429 Unspecified NKX2-6 +OMIM:611770 skos:exactMatch HGNC_symbol:NKX2-6 Unspecified NKX2-6 +OMIM:611770 skos:exactMatch HGNC:32940 Unspecified NKX2-6 +OMIM:611770 skos:exactMatch UMLS:C1857586 Unspecified NKX2-6 +OMIM:611770 skos:exactMatch UMLS:C0041207 Unspecified NKX2-6 +OMIM:608121 skos:exactMatch HGNC:14653 Unspecified PARVB +OMIM:608121 skos:exactMatch UMLS:C1422816 Unspecified PARVB +OMIM:608121 skos:exactMatch HGNC_symbol:PARVB Unspecified PARVB +OMIM:608120 skos:exactMatch HGNC:14652 Unspecified PARVA +OMIM:608120 skos:exactMatch UMLS:C1422815 Unspecified PARVA +OMIM:608120 skos:exactMatch HGNC_symbol:PARVA Unspecified PARVA +OMIM:258660 skos:exactMatch UMLS:C1847711 Unspecified nonarteritic anterior ischemic optic neuropathy, susceptibility to +OMIM:256000 skos:exactMatch UMLS:C1838951 Unspecified leigh syndrome +OMIM:256000 skos:exactMatch UMLS:C2931891 Unspecified leigh syndrome +OMIM:256000 skos:exactMatch UMLS:C1850600 Unspecified leigh syndrome +OMIM:256000 skos:exactMatch UMLS:C1850599 Unspecified leigh syndrome +OMIM:256000 skos:exactMatch UMLS:C1850598 Unspecified leigh syndrome +OMIM:256000 skos:exactMatch UMLS:C1850597 Unspecified leigh syndrome +OMIM:256000 skos:exactMatch UMLS:C0023264 Unspecified leigh syndrome +OMIM:608125 skos:exactMatch HGNC:15517 Unspecified XYLT2 +OMIM:608125 skos:exactMatch HGNC_symbol:XYLT2 Unspecified XYLT2 +OMIM:608125 skos:exactMatch UMLS:C1423547 Unspecified XYLT2 +OMIM:305350 skos:exactMatch UMLS:C1844589 Unspecified epidermodysplasia verruciformis, X-linked +OMIM:608124 skos:exactMatch HGNC:15516 Unspecified XYLT1 +OMIM:608124 skos:exactMatch HGNC_symbol:XYLT1 Unspecified XYLT1 +OMIM:608124 skos:exactMatch UMLS:C1423546 Unspecified XYLT1 +OMIM:608123 skos:exactMatch HGNC:15919 Unspecified ACOT8 +OMIM:608123 skos:exactMatch UMLS:C1825832 Unspecified ACOT8 +OMIM:608123 skos:exactMatch HGNC_symbol:ACOT8 Unspecified ACOT8 +OMIM:608122 skos:exactMatch HGNC:14654 Unspecified PARVG +OMIM:608122 skos:exactMatch UMLS:C1422817 Unspecified PARVG +OMIM:608122 skos:exactMatch HGNC_symbol:PARVG Unspecified PARVG +OMIM:608129 skos:exactMatch UMLS:C1428944 Unspecified UBAC1 +OMIM:608129 skos:exactMatch HGNC:30221 Unspecified UBAC1 +OMIM:608129 skos:exactMatch HGNC_symbol:UBAC1 Unspecified UBAC1 +OMIM:608127 skos:exactMatch HGNC:13403 Unspecified PBX4 +OMIM:608127 skos:exactMatch HGNC_symbol:PBX4 Unspecified PBX4 +OMIM:608127 skos:exactMatch UMLS:C1421974 Unspecified PBX4 +OMIM:608126 skos:exactMatch UMLS:C1427963 Unspecified WDHD1 +OMIM:608126 skos:exactMatch HGNC_symbol:WDHD1 Unspecified WDHD1 +OMIM:608126 skos:exactMatch HGNC:23170 Unspecified WDHD1 +OMIM:608109 skos:exactMatch HGNC_symbol:PUS1 Unspecified PUS1 +OMIM:608109 skos:exactMatch HGNC:15508 Unspecified PUS1 +OMIM:608109 skos:exactMatch UMLS:C4551958 Unspecified PUS1 +OMIM:608109 skos:exactMatch UMLS:C1423539 Unspecified PUS1 +OMIM:271630 skos:exactMatch UMLS:C1849048 Unspecified brachyolmia iia 1, toledo iia +OMIM:608108 skos:exactMatch HGNC_symbol:CFDP1 Unspecified CFDP1 +OMIM:608108 skos:exactMatch HGNC:1873 Unspecified CFDP1 +OMIM:608108 skos:exactMatch UMLS:C1413354 Unspecified CFDP1 +OMIM:611759 skos:exactMatch HGNC:19169 Unspecified STARD3NL +OMIM:611759 skos:exactMatch HGNC_symbol:STARD3NL Unspecified STARD3NL +OMIM:611759 skos:exactMatch UMLS:C1426060 Unspecified STARD3NL +OMIM:611757 skos:exactMatch HGNC_symbol:ROPN1 Unspecified ROPN1 +OMIM:611757 skos:exactMatch HGNC:17692 Unspecified ROPN1 +OMIM:611757 skos:exactMatch UMLS:C1425039 Unspecified ROPN1 +OMIM:611758 skos:exactMatch HGNC_symbol:OTUD3 Unspecified OTUD3 +OMIM:611758 skos:exactMatch UMLS:C1826519 Unspecified OTUD3 +OMIM:611758 skos:exactMatch HGNC:29038 Unspecified OTUD3 +OMIM:611755 skos:exactMatch UMLS:C1857821 Unspecified leber congenital amaurosis 10 +OMIM:611756 skos:exactMatch HGNC:24060 Unspecified ROPN1L +OMIM:611756 skos:exactMatch HGNC_symbol:ROPN1L Unspecified ROPN1L +OMIM:611756 skos:exactMatch UMLS:C1538881 Unspecified ROPN1L +OMIM:611753 skos:exactMatch HGNC:29559 Unspecified VMP1 +OMIM:611753 skos:exactMatch HGNC_symbol:VMP1 Unspecified VMP1 +OMIM:611753 skos:exactMatch UMLS:C1823309 Unspecified VMP1 +OMIM:611754 skos:exactMatch HGNC_symbol:AADAT Unspecified AADAT +OMIM:611754 skos:exactMatch HGNC:17929 Unspecified AADAT +OMIM:611754 skos:exactMatch UMLS:C1425183 Unspecified AADAT +OMIM:611751 skos:exactMatch UMLS:C1539962 Unspecified THUMPD2 +OMIM:611751 skos:exactMatch HGNC_symbol:THUMPD2 Unspecified THUMPD2 +OMIM:611751 skos:exactMatch HGNC:14890 Unspecified THUMPD2 +OMIM:611752 skos:exactMatch HGNC:24642 Unspecified ECRG4 +OMIM:611752 skos:exactMatch UMLS:C1824107 Unspecified ECRG4 +OMIM:611752 skos:exactMatch HGNC_symbol:ECRG4 Unspecified ECRG4 +OMIM:185250 skos:exactMatch UMLS:C1366358 Unspecified MMP3 +OMIM:185250 skos:exactMatch HGNC_symbol:MMP3 Unspecified MMP3 +OMIM:185250 skos:exactMatch HGNC:7173 Unspecified MMP3 +OMIM:611750 skos:exactMatch UMLS:C1539905 Unspecified SYNC1 +OMIM:611750 skos:exactMatch HGNC_symbol:SYNC Unspecified SYNC1 +OMIM:611750 skos:exactMatch HGNC:28897 Unspecified SYNC1 +OMIM:608110 skos:exactMatch HGNC_symbol:PAK6 Unspecified PAK6 +OMIM:608110 skos:exactMatch HGNC:16061 Unspecified PAK6 +OMIM:608110 skos:exactMatch UMLS:C1335189 Unspecified PAK6 +OMIM:608114 skos:exactMatch HGNC:16486 Unspecified CENTA1 +OMIM:608114 skos:exactMatch UMLS:C1424318 Unspecified CENTA1 +OMIM:608114 skos:exactMatch HGNC_symbol:ADAP1 Unspecified CENTA1 +OMIM:305360 skos:exactMatch HGNC_symbol:MPP1 Unspecified MPP1 +OMIM:305360 skos:exactMatch HGNC:7219 Unspecified MPP1 +OMIM:305360 skos:exactMatch UMLS:C1334525 Unspecified MPP1 +OMIM:608113 skos:exactMatch HGNC:14075 Unspecified SGCZ +OMIM:608113 skos:exactMatch HGNC_symbol:SGCZ Unspecified SGCZ +OMIM:608113 skos:exactMatch UMLS:C1422391 Unspecified SGCZ +OMIM:608112 skos:exactMatch HGNC:29947 Unspecified TRAK1 +OMIM:608112 skos:exactMatch HGNC_symbol:TRAK1 Unspecified TRAK1 +OMIM:608112 skos:exactMatch UMLS:C4748688 Unspecified TRAK1 +OMIM:608112 skos:exactMatch UMLS:C1823479 Unspecified TRAK1 +OMIM:608111 skos:exactMatch HGNC:20748 Unspecified FANCL +OMIM:608111 skos:exactMatch HGNC_symbol:FANCL Unspecified FANCL +OMIM:608111 skos:exactMatch UMLS:C1427106 Unspecified FANCL +OMIM:608118 skos:exactMatch UMLS:C1842485 Unspecified zinc deficiency, transient neonatal +OMIM:608118 skos:exactMatch UMLS:C1842486 Unspecified zinc deficiency, transient neonatal +OMIM:608117 skos:exactMatch HGNC_symbol:PDE4DIP Unspecified PDE4DIP +OMIM:608117 skos:exactMatch HGNC:15580 Unspecified PDE4DIP +OMIM:608117 skos:exactMatch UMLS:C1423592 Unspecified PDE4DIP +OMIM:608116 skos:exactMatch HGNC_symbol:HHATL Unspecified HHATL +OMIM:608116 skos:exactMatch HGNC:13242 Unspecified HHATL +OMIM:608116 skos:exactMatch UMLS:C1825433 Unspecified HHATL +OMIM:608115 skos:exactMatch UMLS:C0085083 Unspecified ovarian hyperstimulation syndrome +OMIM:271620 skos:exactMatch UMLS:C1849053 Unspecified spondyloepiphyseal dysplasia tarda with mental retardation +OMIM:222690 skos:exactMatch UMLS:C2673736 Unspecified dibasic amino aciduria 1 +OMIM:608062 skos:exactMatch HGNC:20625 Unspecified DCDC1 +OMIM:608062 skos:exactMatch HGNC_symbol:DCDC1 Unspecified DCDC1 +OMIM:608062 skos:exactMatch UMLS:C1427037 Unspecified DCDC1 +OMIM:608061 skos:exactMatch UMLS:C1425229 Unspecified TOMM40 +OMIM:608061 skos:exactMatch HGNC:18001 Unspecified TOMM40 +OMIM:608061 skos:exactMatch HGNC_symbol:TOMM40 Unspecified TOMM40 +OMIM:608060 skos:exactMatch HGNC_symbol:HES4 Unspecified HES4 +OMIM:608060 skos:exactMatch HGNC:24149 Unspecified HES4 +OMIM:608060 skos:exactMatch UMLS:C1539667 Unspecified HES4 +OMIM:608066 skos:exactMatch HGNC:21605 Unspecified SAFB2 +OMIM:608066 skos:exactMatch UMLS:C1427641 Unspecified SAFB2 +OMIM:608066 skos:exactMatch HGNC_symbol:SAFB2 Unspecified SAFB2 +OMIM:608065 skos:exactMatch HGNC:14679 Unspecified SLC38A4 +OMIM:608065 skos:exactMatch HGNC_symbol:SLC38A4 Unspecified SLC38A4 +OMIM:608065 skos:exactMatch UMLS:C1422835 Unspecified SLC38A4 +OMIM:608064 skos:exactMatch HGNC:6356 Unspecified KLHL5 +OMIM:608064 skos:exactMatch HGNC_symbol:KLHL5 Unspecified KLHL5 +OMIM:608064 skos:exactMatch UMLS:C1416668 Unspecified KLHL5 +OMIM:608063 skos:exactMatch UMLS:C1842614 Unspecified bile and pancreatic ducts, complete absence of +OMIM:608069 skos:exactMatch HGNC_symbol:ERRFI1 Unspecified ERRFI1 +OMIM:608069 skos:exactMatch UMLS:C1825064 Unspecified ERRFI1 +OMIM:608069 skos:exactMatch HGNC:18185 Unspecified ERRFI1 +OMIM:608068 skos:exactMatch ORPHA:3243 Unspecified neutrophilic dermatosis, acute febrile +OMIM:608068 skos:exactMatch UMLS:C0085077 Unspecified neutrophilic dermatosis, acute febrile +OMIM:608067 skos:exactMatch HGNC:17440 Unspecified RFWD2 +OMIM:608067 skos:exactMatch HGNC_symbol:COP1 Unspecified RFWD2 +OMIM:608067 skos:exactMatch UMLS:C1538830 Unspecified RFWD2 +OMIM:219050 skos:exactMatch UMLS:C0010417 Unspecified cryptorchidism, unilateral or bilateral +OMIM:611698 skos:exactMatch HGNC:28542 Unspecified SLC22A24 +OMIM:611698 skos:exactMatch UMLS:C1968822 Unspecified SLC22A24 +OMIM:611698 skos:exactMatch HGNC_symbol:SLC22A24 Unspecified SLC22A24 +OMIM:611699 skos:exactMatch UMLS:C1823156 Unspecified SVOP +OMIM:611699 skos:exactMatch HGNC:25417 Unspecified SVOP +OMIM:611699 skos:exactMatch HGNC_symbol:SVOP Unspecified SVOP +OMIM:611696 skos:exactMatch HGNC:29867 Unspecified SLC22A20 +OMIM:611696 skos:exactMatch UMLS:C1968823 Unspecified SLC22A20 +OMIM:611696 skos:exactMatch HGNC_symbol:SLC22A20P Unspecified SLC22A20 +OMIM:611697 skos:exactMatch HGNC_symbol:SLC22A23 Unspecified SLC22A23 +OMIM:611697 skos:exactMatch HGNC:21106 Unspecified SLC22A23 +OMIM:611697 skos:exactMatch UMLS:C1427322 Unspecified SLC22A23 +OMIM:611694 skos:exactMatch UMLS:C2673697 Unspecified dystonia with cerebellar atrophy +OMIM:611695 skos:exactMatch HGNC_symbol:TTBK2 Unspecified TTBK2 +OMIM:611695 skos:exactMatch HGNC:19141 Unspecified TTBK2 +OMIM:611695 skos:exactMatch UMLS:C1426038 Unspecified TTBK2 +OMIM:608051 skos:exactMatch UMLS:C0339512 Unspecified macular dystrophy, retinal, 2 +OMIM:608050 skos:exactMatch UMLS:C1420862 Unspecified TOR1B +OMIM:608050 skos:exactMatch HGNC_symbol:TOR1B Unspecified TOR1B +OMIM:608050 skos:exactMatch HGNC:11995 Unspecified TOR1B +OMIM:232000 skos:exactMatch UMLS:C1418303 Unspecified PCCA +OMIM:232000 skos:exactMatch HGNC:8653 Unspecified PCCA +OMIM:232000 skos:exactMatch UMLS:C0268579 Unspecified PCCA +OMIM:232000 skos:exactMatch HGNC_symbol:PCCA Unspecified PCCA +OMIM:608055 skos:exactMatch HGNC:2608 Unspecified CYP2A13 +OMIM:608055 skos:exactMatch UMLS:C1413867 Unspecified CYP2A13 +OMIM:608055 skos:exactMatch HGNC_symbol:CYP2A13 Unspecified CYP2A13 +OMIM:608054 skos:exactMatch HGNC:2611 Unspecified CYP2A7 +OMIM:608054 skos:exactMatch HGNC_symbol:CYP2A7 Unspecified CYP2A7 +OMIM:608054 skos:exactMatch UMLS:C1413869 Unspecified CYP2A7 +OMIM:608053 skos:exactMatch UMLS:C1414471 Unspecified ETFA +OMIM:608053 skos:exactMatch HGNC_symbol:ETFA Unspecified ETFA +OMIM:608053 skos:exactMatch HGNC:3481 Unspecified ETFA +OMIM:608052 skos:exactMatch UMLS:C1420863 Unspecified TOR2A +OMIM:608052 skos:exactMatch HGNC_symbol:TOR2A Unspecified TOR2A +OMIM:608052 skos:exactMatch HGNC:11996 Unspecified TOR2A +OMIM:258650 skos:exactMatch UMLS:C1839566 Unspecified optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive +OMIM:608059 skos:exactMatch HGNC:15977 Unspecified HES7 +OMIM:608059 skos:exactMatch UMLS:C4017128 Unspecified HES7 +OMIM:608059 skos:exactMatch HGNC_symbol:HES7 Unspecified HES7 +OMIM:608059 skos:exactMatch UMLS:C1423880 Unspecified HES7 +OMIM:608058 skos:exactMatch UMLS:C1428751 Unspecified G6PC2 +OMIM:608058 skos:exactMatch HGNC:28906 Unspecified G6PC2 +OMIM:608058 skos:exactMatch HGNC_symbol:G6PC2 Unspecified G6PC2 +OMIM:608057 skos:exactMatch HGNC_symbol:DNASE2B Unspecified DNASE2B +OMIM:608057 skos:exactMatch HGNC:28875 Unspecified DNASE2B +OMIM:608057 skos:exactMatch UMLS:C1539298 Unspecified DNASE2B +OMIM:271600 skos:exactMatch UMLS:C1849054 Unspecified spondyloepiphyseal dysplasia tarda, autosomal recessive +OMIM:611689 skos:exactMatch HGNC_symbol:OOEP Unspecified OOEP +OMIM:611689 skos:exactMatch HGNC:21382 Unspecified OOEP +OMIM:611689 skos:exactMatch UMLS:C1968827 Unspecified OOEP +OMIM:611687 skos:exactMatch HGNC:33699 Unspecified KHDC3L +OMIM:611687 skos:exactMatch UMLS:C1968829 Unspecified KHDC3L +OMIM:611687 skos:exactMatch HGNC_symbol:KHDC3L Unspecified KHDC3L +OMIM:611688 skos:exactMatch HGNC:21366 Unspecified KHDC1 +OMIM:611688 skos:exactMatch UMLS:C1427514 Unspecified KHDC1 +OMIM:611688 skos:exactMatch HGNC_symbol:KHDC1 Unspecified KHDC1 +OMIM:611685 skos:exactMatch HGNC_symbol:RNF8 Unspecified RNF8 +OMIM:611685 skos:exactMatch UMLS:C1419429 Unspecified RNF8 +OMIM:611685 skos:exactMatch HGNC:10071 Unspecified RNF8 +OMIM:611686 skos:exactMatch HGNC_symbol:CASD1 Unspecified CASD1 +OMIM:611686 skos:exactMatch UMLS:C1824530 Unspecified CASD1 +OMIM:611686 skos:exactMatch HGNC:16014 Unspecified CASD1 +OMIM:611683 skos:exactMatch UMLS:C1968831 Unspecified None +OMIM:611683 skos:exactMatch HGNC:25700 Unspecified None +OMIM:611683 skos:exactMatch HGNC_symbol:FN3KRP Unspecified None +OMIM:611684 skos:exactMatch HGNC:16860 Unspecified SART3 +OMIM:611684 skos:exactMatch UMLS:C1424600 Unspecified SART3 +OMIM:611684 skos:exactMatch UMLS:C4015968 Unspecified SART3 +OMIM:611684 skos:exactMatch HGNC_symbol:SART3 Unspecified SART3 +OMIM:608040 skos:exactMatch UMLS:C1825569 Unspecified IFT74 +OMIM:608040 skos:exactMatch HGNC:21424 Unspecified IFT74 +OMIM:608040 skos:exactMatch HGNC_symbol:IFT74 Unspecified IFT74 +OMIM:611692 skos:exactMatch HGNC:31446 Unspecified ZBTB34 +OMIM:611692 skos:exactMatch UMLS:C1538154 Unspecified ZBTB34 +OMIM:611692 skos:exactMatch HGNC_symbol:ZBTB34 Unspecified ZBTB34 +OMIM:611693 skos:exactMatch UMLS:C1968826 Unspecified CLMP +OMIM:611693 skos:exactMatch HGNC_symbol:CLMP Unspecified CLMP +OMIM:611693 skos:exactMatch HGNC:24039 Unspecified CLMP +OMIM:611690 skos:exactMatch HGNC:30799 Unspecified PRRG4 +OMIM:611690 skos:exactMatch UMLS:C1538726 Unspecified PRRG4 +OMIM:611690 skos:exactMatch HGNC_symbol:PRRG4 Unspecified PRRG4 +OMIM:611691 skos:exactMatch HGNC:15985 Unspecified SVEP1 +OMIM:611691 skos:exactMatch UMLS:C1539903 Unspecified SVEP1 +OMIM:611691 skos:exactMatch HGNC_symbol:SVEP1 Unspecified SVEP1 +OMIM:608044 skos:exactMatch HGNC_symbol:SLC5A8 Unspecified SLC5A8 +OMIM:608044 skos:exactMatch UMLS:C1426025 Unspecified SLC5A8 +OMIM:608044 skos:exactMatch HGNC:19119 Unspecified SLC5A8 +OMIM:608043 skos:exactMatch HGNC:19873 Unspecified GALNT10 +OMIM:608043 skos:exactMatch UMLS:C1426498 Unspecified GALNT10 +OMIM:608043 skos:exactMatch HGNC_symbol:GALNT10 Unspecified GALNT10 +OMIM:608042 skos:exactMatch HGNC_symbol:SYTL1 Unspecified SYTL1 +OMIM:608042 skos:exactMatch HGNC:15584 Unspecified SYTL1 +OMIM:608042 skos:exactMatch UMLS:C1539906 Unspecified SYTL1 +OMIM:608041 skos:exactMatch HGNC:21732 Unspecified ANTXR2 +OMIM:608041 skos:exactMatch UMLS:C1427727 Unspecified ANTXR2 +OMIM:608041 skos:exactMatch HGNC_symbol:ANTXR2 Unspecified ANTXR2 +OMIM:608048 skos:exactMatch HGNC:19336 Unspecified SHPRH +OMIM:608048 skos:exactMatch HGNC_symbol:SHPRH Unspecified SHPRH +OMIM:608048 skos:exactMatch UMLS:C1426173 Unspecified SHPRH +OMIM:608047 skos:exactMatch HGNC_symbol:UBE3B Unspecified UBE3B +OMIM:608047 skos:exactMatch HGNC:13478 Unspecified UBE3B +OMIM:608047 skos:exactMatch UMLS:C1422011 Unspecified UBE3B +OMIM:608046 skos:exactMatch HGNC_symbol:SYVN1 Unspecified SYVN1 +OMIM:608046 skos:exactMatch HGNC:20738 Unspecified SYVN1 +OMIM:608046 skos:exactMatch UMLS:C1539907 Unspecified SYVN1 +OMIM:608045 skos:exactMatch UMLS:C1842633 Unspecified repressor of telomerase expression 1 +OMIM:608049 skos:exactMatch UMLS:C1842632 Unspecified autism, susceptibility to, 3 +OMIM:246650 skos:exactMatch UMLS:C1855498 Unspecified lipase deficiency, combined +OMIM:611678 skos:exactMatch UMLS:C1428747 Unspecified PDCL3 +OMIM:611678 skos:exactMatch HGNC_symbol:PDCL3 Unspecified PDCL3 +OMIM:611678 skos:exactMatch HGNC:28860 Unspecified PDCL3 +OMIM:611679 skos:exactMatch HGNC:1211 Unspecified FBXW10 +OMIM:611679 skos:exactMatch HGNC_symbol:FBXW10 Unspecified FBXW10 +OMIM:611679 skos:exactMatch UMLS:C1539503 Unspecified FBXW10 +OMIM:219070 skos:exactMatch UMLS:C1857452 Unspecified curved nail of fourth toe +OMIM:611676 skos:exactMatch HGNC:29524 Unspecified PDCL2 +OMIM:611676 skos:exactMatch UMLS:C1428867 Unspecified PDCL2 +OMIM:611676 skos:exactMatch HGNC_symbol:PDCL2 Unspecified PDCL2 +OMIM:611677 skos:exactMatch HGNC_symbol:OR13G1 Unspecified OR13G1 +OMIM:611677 skos:exactMatch HGNC:14999 Unspecified OR13G1 +OMIM:611677 skos:exactMatch UMLS:C1423125 Unspecified OR13G1 +OMIM:611674 skos:exactMatch UMLS:C1823870 Unspecified XKR3 +OMIM:611674 skos:exactMatch HGNC:28778 Unspecified XKR3 +OMIM:611674 skos:exactMatch HGNC_symbol:XKR3 Unspecified XKR3 +OMIM:611675 skos:exactMatch HGNC:29058 Unspecified KIAA0513 +OMIM:611675 skos:exactMatch HGNC_symbol:KIAA0513 Unspecified KIAA0513 +OMIM:611675 skos:exactMatch UMLS:C1537449 Unspecified KIAA0513 +OMIM:611672 skos:exactMatch UMLS:C1968832 Unspecified SLC46A1 +OMIM:611672 skos:exactMatch HGNC:30521 Unspecified SLC46A1 +OMIM:611672 skos:exactMatch HGNC_symbol:SLC46A1 Unspecified SLC46A1 +OMIM:611673 skos:exactMatch HGNC:16782 Unspecified TRMT1L +OMIM:611673 skos:exactMatch UMLS:C1424541 Unspecified TRMT1L +OMIM:611673 skos:exactMatch HGNC_symbol:TRMT1L Unspecified TRMT1L +OMIM:611681 skos:exactMatch UMLS:C1424800 Unspecified ADAMTS20 +OMIM:611681 skos:exactMatch HGNC:17178 Unspecified ADAMTS20 +OMIM:611681 skos:exactMatch HGNC_symbol:ADAMTS20 Unspecified ADAMTS20 +OMIM:611682 skos:exactMatch HGNC_symbol:LPAL2 Unspecified LPAL2 +OMIM:611682 skos:exactMatch HGNC:21210 Unspecified LPAL2 +OMIM:611682 skos:exactMatch UMLS:C1427417 Unspecified LPAL2 +OMIM:611680 skos:exactMatch HGNC:28667 Unspecified C1ORF116 +OMIM:611680 skos:exactMatch UMLS:C1823736 Unspecified C1ORF116 +OMIM:611680 skos:exactMatch HGNC_symbol:C1orf116 Unspecified C1ORF116 +OMIM:608033 skos:exactMatch UMLS:C2675556 Unspecified encephalopathy, acute, infection-induced, susceptibility to, 3 +OMIM:608031 skos:exactMatch UMLS:C1842674 Unspecified amyotrophic lateral sclerosis 7 +OMIM:608030 skos:exactMatch UMLS:C1842675 Unspecified amyotrophic lateral sclerosis 6 with or without frontotemporal dementia +OMIM:608037 skos:exactMatch UMLS:C1842641 Unspecified CHPF2 +OMIM:608037 skos:exactMatch HGNC:29270 Unspecified CHPF2 +OMIM:608037 skos:exactMatch HGNC_symbol:CHPF2 Unspecified CHPF2 +OMIM:608036 skos:exactMatch UMLS:C1842642 Unspecified iia 2 diabetes mellitus 4 +OMIM:608035 skos:exactMatch UMLS:C1842643 Unspecified melanoma, cutaneous malignant, susceptibility to, 4 +OMIM:608034 skos:exactMatch HGNC_symbol:ASPA Unspecified ASPA +OMIM:608034 skos:exactMatch HGNC:756 Unspecified ASPA +OMIM:608034 skos:exactMatch UMLS:C1412591 Unspecified ASPA +OMIM:608039 skos:exactMatch HGNC:22988 Unspecified SPATA9 +OMIM:608039 skos:exactMatch UMLS:C1427839 Unspecified SPATA9 +OMIM:608039 skos:exactMatch HGNC_symbol:SPATA9 Unspecified SPATA9 +OMIM:608038 skos:exactMatch UMLS:C1423829 Unspecified PAK5 +OMIM:608038 skos:exactMatch HGNC:15916 Unspecified PAK5 +OMIM:608038 skos:exactMatch HGNC_symbol:PAK5 Unspecified PAK5 +OMIM:305400 skos:exactMatch UMLS:C3275558 Unspecified aarskog-scott syndrome +OMIM:305400 skos:exactMatch UMLS:C1844569 Unspecified aarskog-scott syndrome +OMIM:305400 skos:exactMatch UMLS:C0175701 Unspecified aarskog-scott syndrome +OMIM:219000 skos:exactMatch UMLS:C4551480 Unspecified fraser syndrome 1 +OMIM:608091 skos:exactMatch UMLS:C1842577 Unspecified joubert syndrome 2 +OMIM:608090 skos:exactMatch UMLS:C1826258 Unspecified MLXIP +OMIM:608090 skos:exactMatch HGNC:17055 Unspecified MLXIP +OMIM:608090 skos:exactMatch HGNC_symbol:MLXIP Unspecified MLXIP +OMIM:608095 skos:exactMatch HGNC_symbol:SCNM1 Unspecified SCNM1 +OMIM:608095 skos:exactMatch HGNC:23136 Unspecified SCNM1 +OMIM:608095 skos:exactMatch UMLS:C1427938 Unspecified SCNM1 +OMIM:608094 skos:exactMatch HGNC:11024 Unspecified SLC37A1 +OMIM:608094 skos:exactMatch HGNC_symbol:SLC37A1 Unspecified SLC37A1 +OMIM:608094 skos:exactMatch UMLS:C1420190 Unspecified SLC37A1 +OMIM:608093 skos:exactMatch UMLS:C2931004 Unspecified congenital disorder of glycosylation, iia ij +OMIM:608092 skos:exactMatch HGNC_symbol:PALLD Unspecified PALLD +OMIM:608092 skos:exactMatch UMLS:C1826538 Unspecified PALLD +OMIM:608092 skos:exactMatch HGNC:17068 Unspecified PALLD +OMIM:608099 skos:exactMatch UMLS:C2936332 Unspecified muscular dystrophy, limb-girdle, autosomal recessive 3 +OMIM:608098 skos:exactMatch UMLS:C1842562 Unspecified periventricular nodular heterotopia 3 +OMIM:608097 skos:exactMatch UMLS:C1842563 Unspecified periventricular heterotopia with microcephaly, autosomal recessive +OMIM:608096 skos:exactMatch UMLS:C4759869 Unspecified epilepsy, familial temporal lobe, 2 +OMIM:246600 skos:exactMatch HGNC_symbol:PNLIP Unspecified PNLIP +OMIM:246600 skos:exactMatch UMLS:C1418708 Unspecified PNLIP +OMIM:246600 skos:exactMatch HGNC:9155 Unspecified PNLIP +OMIM:608080 skos:exactMatch HGNC_symbol:MRO Unspecified MRO +OMIM:608080 skos:exactMatch HGNC:24121 Unspecified MRO +OMIM:608080 skos:exactMatch UMLS:C1540309 Unspecified MRO +OMIM:608084 skos:exactMatch HGNC_symbol:GIMAP1 Unspecified GIMAP1 +OMIM:608084 skos:exactMatch UMLS:C1539562 Unspecified GIMAP1 +OMIM:608084 skos:exactMatch HGNC:23237 Unspecified GIMAP1 +OMIM:608083 skos:exactMatch UMLS:C4017129 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C4017132 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C4017131 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C4017134 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C4017133 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C4017136 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C4017137 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C4017135 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C4017139 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C4017138 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C4017130 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C1412477 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C3889891 Unspecified APOC2 +OMIM:608083 skos:exactMatch HGNC_symbol:APOC2 Unspecified APOC2 +OMIM:608083 skos:exactMatch HGNC:609 Unspecified APOC2 +OMIM:608083 skos:exactMatch UMLS:C1720779 Unspecified APOC2 +OMIM:608082 skos:exactMatch HGNC_symbol:YPEL1 Unspecified YPEL1 +OMIM:608082 skos:exactMatch HGNC:12845 Unspecified YPEL1 +OMIM:608082 skos:exactMatch UMLS:C1421556 Unspecified YPEL1 +OMIM:608081 skos:exactMatch UMLS:C1424791 Unspecified SYT15 +OMIM:608081 skos:exactMatch HGNC:17167 Unspecified SYT15 +OMIM:608081 skos:exactMatch HGNC_symbol:SYT15 Unspecified SYT15 +OMIM:608088 skos:exactMatch UMLS:C1842586 Unspecified neuropathy, hereditary sensory and autonomic, iia i, with cough and gastroesophageal reflux +OMIM:608087 skos:exactMatch HGNC_symbol:GIMAP4 Unspecified GIMAP4 +OMIM:608087 skos:exactMatch UMLS:C1539565 Unspecified GIMAP4 +OMIM:608087 skos:exactMatch HGNC:21872 Unspecified GIMAP4 +OMIM:608086 skos:exactMatch UMLS:C1539566 Unspecified GIMAP5 +OMIM:608086 skos:exactMatch HGNC_symbol:GIMAP5 Unspecified GIMAP5 +OMIM:608086 skos:exactMatch HGNC:18005 Unspecified GIMAP5 +OMIM:608085 skos:exactMatch UMLS:C1539563 Unspecified GIMAP2 +OMIM:608085 skos:exactMatch HGNC_symbol:GIMAP2 Unspecified GIMAP2 +OMIM:608085 skos:exactMatch HGNC:21789 Unspecified GIMAP2 +OMIM:608089 skos:exactMatch UMLS:C0476089 Unspecified endometrial cancer +OMIM:608073 skos:exactMatch HGNC:7930 Unspecified NPM2 +OMIM:608073 skos:exactMatch UMLS:C1417805 Unspecified NPM2 +OMIM:608073 skos:exactMatch HGNC_symbol:NPM2 Unspecified NPM2 +OMIM:608072 skos:exactMatch HGNC_symbol:NHLRC1 Unspecified NHLRC1 +OMIM:608072 skos:exactMatch HGNC:21576 Unspecified NHLRC1 +OMIM:608072 skos:exactMatch UMLS:C1427623 Unspecified NHLRC1 +OMIM:608071 skos:exactMatch UMLS:C1539501 Unspecified FBXW4 +OMIM:608071 skos:exactMatch HGNC:10847 Unspecified FBXW4 +OMIM:608071 skos:exactMatch HGNC_symbol:FBXW4 Unspecified FBXW4 +OMIM:608070 skos:exactMatch HGNC:13744 Unspecified HERPUD1 +OMIM:608070 skos:exactMatch UMLS:C1422179 Unspecified HERPUD1 +OMIM:608070 skos:exactMatch HGNC_symbol:HERPUD1 Unspecified HERPUD1 +OMIM:608077 skos:exactMatch HGNC:8538 Unspecified P2RXL1 +OMIM:608077 skos:exactMatch UMLS:C1418216 Unspecified P2RXL1 +OMIM:608077 skos:exactMatch HGNC_symbol:P2RX6 Unspecified P2RXL1 +OMIM:608076 skos:exactMatch UMLS:C1336653 Unspecified TNK1 +OMIM:608076 skos:exactMatch HGNC_symbol:TNK1 Unspecified TNK1 +OMIM:608076 skos:exactMatch HGNC:11940 Unspecified TNK1 +OMIM:608075 skos:exactMatch UMLS:C1426095 Unspecified PLCZ1 +OMIM:608075 skos:exactMatch HGNC_symbol:PLCZ1 Unspecified PLCZ1 +OMIM:608075 skos:exactMatch UMLS:C4310666 Unspecified PLCZ1 +OMIM:608075 skos:exactMatch HGNC:19218 Unspecified PLCZ1 +OMIM:608074 skos:exactMatch HGNC_symbol:PDCD6IP Unspecified PDCD6IP +OMIM:608074 skos:exactMatch HGNC:8766 Unspecified PDCD6IP +OMIM:608074 skos:exactMatch UMLS:C1418407 Unspecified PDCD6IP +OMIM:608079 skos:exactMatch HGNC:14197 Unspecified ELAC1 +OMIM:608079 skos:exactMatch UMLS:C1422479 Unspecified ELAC1 +OMIM:608079 skos:exactMatch HGNC_symbol:ELAC1 Unspecified ELAC1 +OMIM:608078 skos:exactMatch UMLS:C1842605 Unspecified schizophrenia 11 +OMIM:222600 skos:exactMatch UMLS:C0220726 Unspecified diastrophic dysplasia +OMIM:222600 skos:exactMatch UMLS:C1857255 Unspecified diastrophic dysplasia +OMIM:138800 skos:exactMatch UMLS:C0302859 Unspecified goiter, multinodular 1, with or without sertoli-leydig cell tumors +OMIM:207000 skos:exactMatch UMLS:C1859762 Unspecified anosmia for isobutyric acid +OMIM:151800 skos:exactMatch UMLS:C0023804 Unspecified lipomatosis, multiple symmetric +OMIM:151800 skos:exactMatch ORPHA:2398 Unspecified lipomatosis, multiple symmetric +OMIM:209600 skos:exactMatch UMLS:C0004331 Unspecified atrioventricular dissociation +OMIM:112267 skos:exactMatch HGNC:1074 Unspecified BMP7 +OMIM:112267 skos:exactMatch HGNC_symbol:BMP7 Unspecified BMP7 +OMIM:112267 skos:exactMatch UMLS:C1332428 Unspecified BMP7 +OMIM:112265 skos:exactMatch HGNC_symbol:BMP5 Unspecified BMP5 +OMIM:112265 skos:exactMatch UMLS:C1332426 Unspecified BMP5 +OMIM:112265 skos:exactMatch HGNC:1072 Unspecified BMP5 +OMIM:112266 skos:exactMatch HGNC:1073 Unspecified BMP6 +OMIM:112266 skos:exactMatch HGNC_symbol:BMP6 Unspecified BMP6 +OMIM:112266 skos:exactMatch UMLS:C1332427 Unspecified BMP6 +OMIM:112263 skos:exactMatch HGNC_symbol:BMP3 Unspecified BMP3 +OMIM:112263 skos:exactMatch UMLS:C1332425 Unspecified BMP3 +OMIM:112263 skos:exactMatch HGNC:1070 Unspecified BMP3 +OMIM:112264 skos:exactMatch UMLS:C3553887 Unspecified BMP1 +OMIM:112264 skos:exactMatch HGNC_symbol:BMP1 Unspecified BMP1 +OMIM:112264 skos:exactMatch UMLS:C1412804 Unspecified BMP1 +OMIM:112264 skos:exactMatch HGNC:1067 Unspecified BMP1 +OMIM:112261 skos:exactMatch HGNC_symbol:BMP2 Unspecified BMP2 +OMIM:112261 skos:exactMatch UMLS:C1332424 Unspecified BMP2 +OMIM:112261 skos:exactMatch HGNC:1069 Unspecified BMP2 +OMIM:112261 skos:exactMatch UMLS:C3276340 Unspecified BMP2 +OMIM:138850 skos:exactMatch HGNC:4421 Unspecified GNRHR +OMIM:138850 skos:exactMatch UMLS:C1415171 Unspecified GNRHR +OMIM:138850 skos:exactMatch HGNC_symbol:GNRHR Unspecified GNRHR +OMIM:112262 skos:exactMatch UMLS:C1412805 Unspecified BMP4 +OMIM:112262 skos:exactMatch HGNC_symbol:BMP4 Unspecified BMP4 +OMIM:112262 skos:exactMatch HGNC:1071 Unspecified BMP4 +OMIM:210600 skos:exactMatch ORPHA:808 Unspecified seckel syndrome 1 +OMIM:210600 skos:exactMatch UMLS:C4551474 Unspecified seckel syndrome 1 +OMIM:112270 skos:exactMatch UMLS:C1862176 Unspecified bone pain, periodic +OMIM:163800 skos:exactMatch UMLS:C1834144 Unspecified sick sinus syndrome 2 +OMIM:112250 skos:exactMatch UMLS:C1862177 Unspecified diaphyseal medullary stenosis with malignant fibrous histiocytoma +OMIM:112250 skos:exactMatch ORPHA:85182 Unspecified diaphyseal medullary stenosis with malignant fibrous histiocytoma +OMIM:136200 skos:exactMatch UMLS:C1851055 Unspecified flushing of ears and somnolence +OMIM:112260 skos:exactMatch UMLS:C1412791 Unspecified BGLAP +OMIM:112260 skos:exactMatch HGNC_symbol:BGLAP Unspecified BGLAP +OMIM:112260 skos:exactMatch HGNC:1043 Unspecified BGLAP +OMIM:102560 skos:exactMatch HGNC:144 Unspecified ACTG1 +OMIM:102560 skos:exactMatch HGNC_symbol:ACTG1 Unspecified ACTG1 +OMIM:102560 skos:exactMatch UMLS:C1412149 Unspecified ACTG1 +OMIM:102565 skos:exactMatch UMLS:C1414637 Unspecified FLNC +OMIM:102565 skos:exactMatch HGNC_symbol:FLNC Unspecified FLNC +OMIM:102565 skos:exactMatch HGNC:3756 Unspecified FLNC +OMIM:126500 skos:exactMatch UMLS:C1852023 Unspecified double nail for fifth toe +OMIM:151500 skos:exactMatch UMLS:C1835405 Unspecified leukocyte nuclear appendages, hereditary prevalence of +OMIM:102530 skos:exactMatch UMLS:C0403825 Unspecified spermatogenic failure 6 +OMIM:102545 skos:exactMatch HGNC_symbol:ACTG2 Unspecified ACTG2 +OMIM:102545 skos:exactMatch UMLS:C1332010 Unspecified ACTG2 +OMIM:102545 skos:exactMatch HGNC:145 Unspecified ACTG2 +OMIM:151510 skos:exactMatch UMLS:C1334145 Unspecified ITGAX +OMIM:151510 skos:exactMatch HGNC_symbol:ITGAX Unspecified ITGAX +OMIM:151510 skos:exactMatch HGNC:6152 Unspecified ITGAX +OMIM:138550 skos:exactMatch HGNC_symbol:PYGB Unspecified PYGB +OMIM:138550 skos:exactMatch HGNC:9723 Unspecified PYGB +OMIM:138550 skos:exactMatch UMLS:C1419154 Unspecified PYGB +OMIM:102540 skos:exactMatch HGNC_symbol:ACTC1 Unspecified ACTC1 +OMIM:102540 skos:exactMatch HGNC:143 Unspecified ACTC1 +OMIM:102540 skos:exactMatch UMLS:C1825843 Unspecified ACTC1 +OMIM:611829 skos:exactMatch UMLS:C1422682 Unspecified MRPL16 +OMIM:611829 skos:exactMatch HGNC:14476 Unspecified MRPL16 +OMIM:611829 skos:exactMatch HGNC_symbol:MRPL16 Unspecified MRPL16 +OMIM:114500 skos:exactMatch UMLS:C0007102 Unspecified colorectal cancer +OMIM:114500 skos:exactMatch UMLS:C0009402 Unspecified colorectal cancer +OMIM:611827 skos:exactMatch UMLS:C1422538 Unspecified MRPL14 +OMIM:611827 skos:exactMatch HGNC:14279 Unspecified MRPL14 +OMIM:611827 skos:exactMatch HGNC_symbol:MRPL14 Unspecified MRPL14 +OMIM:611828 skos:exactMatch UMLS:C1422378 Unspecified MRPL15 +OMIM:611828 skos:exactMatch HGNC:14054 Unspecified MRPL15 +OMIM:611828 skos:exactMatch HGNC_symbol:MRPL15 Unspecified MRPL15 +OMIM:611825 skos:exactMatch HGNC:14055 Unspecified MRPL10 +OMIM:611825 skos:exactMatch HGNC_symbol:MRPL10 Unspecified MRPL10 +OMIM:611825 skos:exactMatch UMLS:C1422379 Unspecified MRPL10 +OMIM:611826 skos:exactMatch HGNC:14042 Unspecified MRPL11 +OMIM:611826 skos:exactMatch HGNC_symbol:MRPL11 Unspecified MRPL11 +OMIM:611826 skos:exactMatch UMLS:C1422367 Unspecified MRPL11 +OMIM:611823 skos:exactMatch HGNC_symbol:MRPL4 Unspecified MRPL4 +OMIM:611823 skos:exactMatch HGNC:14276 Unspecified MRPL4 +OMIM:611823 skos:exactMatch UMLS:C1422535 Unspecified MRPL4 +OMIM:611824 skos:exactMatch HGNC_symbol:MRPL9 Unspecified MRPL9 +OMIM:611824 skos:exactMatch HGNC:14277 Unspecified MRPL9 +OMIM:611824 skos:exactMatch UMLS:C1422536 Unspecified MRPL9 +OMIM:611821 skos:exactMatch HGNC_symbol:MRPL1 Unspecified MRPL1 +OMIM:611821 skos:exactMatch HGNC:14275 Unspecified MRPL1 +OMIM:611821 skos:exactMatch UMLS:C1422534 Unspecified MRPL1 +OMIM:611822 skos:exactMatch HGNC_symbol:MRPL2 Unspecified MRPL2 +OMIM:611822 skos:exactMatch HGNC:14056 Unspecified MRPL2 +OMIM:611822 skos:exactMatch UMLS:C1422380 Unspecified MRPL2 +OMIM:611820 skos:exactMatch UMLS:C2678483 Unspecified long qt syndrome 11 +OMIM:151525 skos:exactMatch HGNC_symbol:CD53 Unspecified CD53 +OMIM:151525 skos:exactMatch HGNC:1686 Unspecified CD53 +OMIM:151525 skos:exactMatch UMLS:C1413228 Unspecified CD53 +OMIM:151523 skos:exactMatch HGNC_symbol:CD37 Unspecified CD37 +OMIM:151523 skos:exactMatch HGNC:1666 Unspecified CD37 +OMIM:151523 skos:exactMatch UMLS:C1413220 Unspecified CD37 +OMIM:151520 skos:exactMatch HGNC_symbol:LTK Unspecified LTK +OMIM:151520 skos:exactMatch UMLS:C1334352 Unspecified LTK +OMIM:151520 skos:exactMatch HGNC:6721 Unspecified LTK +OMIM:102510 skos:exactMatch UMLS:C1863307 Unspecified acropectorovertebral dysplasia +OMIM:611818 skos:exactMatch UMLS:C2678485 Unspecified long qt syndrome 9 +OMIM:611819 skos:exactMatch UMLS:C4013560 Unspecified long qt syndrome 10 +OMIM:611819 skos:exactMatch UMLS:C2678484 Unspecified long qt syndrome 10 +OMIM:163500 skos:exactMatch UMLS:C1876182 Unspecified night blindness, congenital stationary, autosomal dominant 2 +OMIM:611816 skos:exactMatch UMLS:C2678486 Unspecified temple-baraitser syndrome +OMIM:611817 skos:exactMatch HGNC:18788 Unspecified KLRK1 +OMIM:611817 skos:exactMatch HGNC_symbol:KLRK1 Unspecified KLRK1 +OMIM:611817 skos:exactMatch UMLS:C1425775 Unspecified KLRK1 +OMIM:611814 skos:exactMatch UMLS:C1422633 Unspecified ELOVL2 +OMIM:611814 skos:exactMatch HGNC_symbol:ELOVL2 Unspecified ELOVL2 +OMIM:611814 skos:exactMatch HGNC:14416 Unspecified ELOVL2 +OMIM:611815 skos:exactMatch HGNC:18047 Unspecified ELOVL3 +OMIM:611815 skos:exactMatch HGNC_symbol:ELOVL3 Unspecified ELOVL3 +OMIM:611815 skos:exactMatch UMLS:C1425264 Unspecified ELOVL3 +OMIM:611812 skos:exactMatch UMLS:C2678492 Unspecified 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs +OMIM:611813 skos:exactMatch UMLS:C1422635 Unspecified ELOVL1 +OMIM:611813 skos:exactMatch HGNC_symbol:ELOVL1 Unspecified ELOVL1 +OMIM:611813 skos:exactMatch HGNC:14418 Unspecified ELOVL1 +OMIM:611810 skos:exactMatch UMLS:C1428342 Unspecified USHBP1 +OMIM:611810 skos:exactMatch HGNC:24058 Unspecified USHBP1 +OMIM:611810 skos:exactMatch HGNC_symbol:USHBP1 Unspecified USHBP1 +OMIM:611811 skos:exactMatch HGNC_symbol:ZNF333 Unspecified ZNF333 +OMIM:611811 skos:exactMatch HGNC:15624 Unspecified ZNF333 +OMIM:611811 skos:exactMatch UMLS:C1538183 Unspecified ZNF333 +OMIM:102525 skos:exactMatch HGNC:127 Unspecified ACRV1 +OMIM:102525 skos:exactMatch HGNC_symbol:ACRV1 Unspecified ACRV1 +OMIM:102525 skos:exactMatch UMLS:C1412135 Unspecified ACRV1 +OMIM:151530 skos:exactMatch HGNC:500 Unspecified ANPEP +OMIM:151530 skos:exactMatch UMLS:C1412409 Unspecified ANPEP +OMIM:151530 skos:exactMatch HGNC_symbol:ANPEP Unspecified ANPEP +OMIM:138570 skos:exactMatch UMLS:C1415377 Unspecified GYS1 +OMIM:138570 skos:exactMatch HGNC_symbol:GYS1 Unspecified GYS1 +OMIM:138570 skos:exactMatch HGNC:4706 Unspecified GYS1 +OMIM:138571 skos:exactMatch UMLS:C1415378 Unspecified GYS2 +OMIM:138571 skos:exactMatch HGNC_symbol:GYS2 Unspecified GYS2 +OMIM:138571 skos:exactMatch HGNC:4707 Unspecified GYS2 +OMIM:102520 skos:exactMatch UMLS:C3495490 Unspecified acrorenal syndrome +OMIM:611807 skos:exactMatch UMLS:C1823282 Unspecified TIPRL +OMIM:611807 skos:exactMatch HGNC_symbol:TIPRL Unspecified TIPRL +OMIM:611807 skos:exactMatch HGNC:30231 Unspecified TIPRL +OMIM:611808 skos:exactMatch UMLS:C2678494 Unspecified tremor, hereditary essential, and idiopathic normal pressure hydrocephalus +OMIM:611805 skos:exactMatch HGNC:21308 Unspecified ELOVL5 +OMIM:611805 skos:exactMatch HGNC_symbol:ELOVL5 Unspecified ELOVL5 +OMIM:611805 skos:exactMatch UMLS:C1427485 Unspecified ELOVL5 +OMIM:611806 skos:exactMatch UMLS:C1540201 Unspecified AS3MT +OMIM:611806 skos:exactMatch HGNC:17452 Unspecified AS3MT +OMIM:611806 skos:exactMatch HGNC_symbol:AS3MT Unspecified AS3MT +OMIM:611803 skos:exactMatch UMLS:C1825626 Unspecified ITFG1 +OMIM:611803 skos:exactMatch HGNC_symbol:ITFG1 Unspecified ITFG1 +OMIM:611803 skos:exactMatch HGNC:30697 Unspecified ITFG1 +OMIM:611804 skos:exactMatch UMLS:C2678497 Unspecified elliptocytosis 1 +OMIM:611801 skos:exactMatch UMLS:C1538624 Unspecified PGAP3 +OMIM:611801 skos:exactMatch HGNC_symbol:PGAP3 Unspecified PGAP3 +OMIM:611801 skos:exactMatch HGNC:23719 Unspecified PGAP3 +OMIM:611801 skos:exactMatch UMLS:C3810354 Unspecified PGAP3 +OMIM:611802 skos:exactMatch HGNC_symbol:MIEN1 Unspecified MIEN1 +OMIM:611802 skos:exactMatch UMLS:C1428682 Unspecified MIEN1 +OMIM:611802 skos:exactMatch HGNC:28230 Unspecified MIEN1 +OMIM:611800 skos:exactMatch HGNC:19217 Unspecified THADA +OMIM:611800 skos:exactMatch HGNC_symbol:THADA Unspecified THADA +OMIM:611800 skos:exactMatch UMLS:C1426094 Unspecified THADA +OMIM:175510 skos:exactMatch UMLS:C5193005 Unspecified gist-plus syndrome +OMIM:611809 skos:exactMatch UMLS:C3888198 Unspecified bestrophinopathy, autosomal recessive +OMIM:175500 skos:exactMatch UMLS:C0282207 Unspecified polyposis, skin pigmentation, alopecia, and fingernail changes +OMIM:138590 skos:exactMatch HGNC_symbol:GYPE Unspecified GYPE +OMIM:138590 skos:exactMatch HGNC:4705 Unspecified GYPE +OMIM:138590 skos:exactMatch UMLS:C1415376 Unspecified GYPE +OMIM:102500 skos:exactMatch UMLS:C0917715 Unspecified hajdu-cheney syndrome +OMIM:102500 skos:exactMatch UMLS:C1838257 Unspecified hajdu-cheney syndrome +OMIM:608219 skos:exactMatch UMLS:C1842381 Unspecified deafness, autosomal recessive 38 +OMIM:187520 skos:exactMatch UMLS:C1539092 Unspecified TNA +OMIM:187520 skos:exactMatch HGNC:11891 Unspecified TNA +OMIM:187520 skos:exactMatch HGNC_symbol:CLEC3B Unspecified TNA +OMIM:608218 skos:exactMatch HGNC:20412 Unspecified KRT20 +OMIM:608218 skos:exactMatch UMLS:C1426926 Unspecified KRT20 +OMIM:608218 skos:exactMatch HGNC_symbol:KRT20 Unspecified KRT20 +OMIM:611869 skos:exactMatch UMLS:C1538772 Unspecified RABEP2 +OMIM:611869 skos:exactMatch HGNC:24817 Unspecified RABEP2 +OMIM:611869 skos:exactMatch HGNC_symbol:RABEP2 Unspecified RABEP2 +OMIM:611867 skos:exactMatch UMLS:C2678480 Unspecified chromosome 22q11.2 deletion syndrome, distal +OMIM:611867 skos:exactMatch ORPHA:261330 Unspecified chromosome 22q11.2 deletion syndrome, distal +OMIM:611868 skos:exactMatch UMLS:C2678479 Unspecified prostate cancer, hereditary, 12 +OMIM:611865 skos:exactMatch HGNC_symbol:L3MBTL2 Unspecified L3MBTL2 +OMIM:611865 skos:exactMatch UMLS:C1425632 Unspecified L3MBTL2 +OMIM:611865 skos:exactMatch HGNC:18594 Unspecified L3MBTL2 +OMIM:611866 skos:exactMatch HGNC_symbol:RBP5 Unspecified RBP5 +OMIM:611866 skos:exactMatch HGNC:15847 Unspecified RBP5 +OMIM:611866 skos:exactMatch UMLS:C1423770 Unspecified RBP5 +OMIM:611863 skos:exactMatch UMLS:C2678482 Unspecified microtia with nasolacrimal duct imperforation and eye coloboma +OMIM:611864 skos:exactMatch UMLS:C2239904 Unspecified ARMC10 +OMIM:611864 skos:exactMatch HGNC_symbol:ARMC10 Unspecified ARMC10 +OMIM:611864 skos:exactMatch HGNC:21706 Unspecified ARMC10 +OMIM:611861 skos:exactMatch HGNC:25250 Unspecified ADPGK +OMIM:611861 skos:exactMatch UMLS:C1540190 Unspecified ADPGK +OMIM:611861 skos:exactMatch HGNC_symbol:ADPGK Unspecified ADPGK +OMIM:611862 skos:exactMatch UMLS:C2676078 Unspecified white blood cell count quantitative trait locus 1 +OMIM:608220 skos:exactMatch UMLS:C2936860 Unspecified spastic paraplegia 25, autosomal recessive +OMIM:608224 skos:exactMatch UMLS:C1842371 Unspecified deafness, autosomal dominant 41 +OMIM:608223 skos:exactMatch UMLS:C1842372 Unspecified aspirin resistance +OMIM:608222 skos:exactMatch HGNC_symbol:ADSL Unspecified ADSL +OMIM:608222 skos:exactMatch UMLS:C1412262 Unspecified ADSL +OMIM:608222 skos:exactMatch HGNC:291 Unspecified ADSL +OMIM:608221 skos:exactMatch HGNC_symbol:MASTL Unspecified MASTL +OMIM:608221 skos:exactMatch UMLS:C1425975 Unspecified MASTL +OMIM:608221 skos:exactMatch HGNC:19042 Unspecified MASTL +OMIM:608228 skos:exactMatch UMLS:C1428026 Unspecified NANOS2 +OMIM:608228 skos:exactMatch HGNC_symbol:NANOS2 Unspecified NANOS2 +OMIM:608228 skos:exactMatch HGNC:23292 Unspecified NANOS2 +OMIM:608227 skos:exactMatch UMLS:C1842363 Unspecified craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation +OMIM:608226 skos:exactMatch HGNC_symbol:NANOS1 Unspecified NANOS1 +OMIM:608226 skos:exactMatch UMLS:C1427871 Unspecified NANOS1 +OMIM:608226 skos:exactMatch HGNC:23044 Unspecified NANOS1 +OMIM:608225 skos:exactMatch HGNC:22946 Unspecified GALNT14 +OMIM:608225 skos:exactMatch UMLS:C1427801 Unspecified GALNT14 +OMIM:608225 skos:exactMatch HGNC_symbol:GALNT14 Unspecified GALNT14 +OMIM:608209 skos:exactMatch UMLS:C1427153 Unspecified DPP10 +OMIM:608209 skos:exactMatch HGNC:20823 Unspecified DPP10 +OMIM:608209 skos:exactMatch HGNC_symbol:DPP10 Unspecified DPP10 +OMIM:608208 skos:exactMatch UMLS:C1537659 Unspecified MARCHF4 +OMIM:608208 skos:exactMatch HGNC:29269 Unspecified MARCHF4 +OMIM:608208 skos:exactMatch HGNC_symbol:MARCHF4 Unspecified MARCHF4 +OMIM:608207 skos:exactMatch UMLS:C1969520 Unspecified kala-azar, susceptibility to, 1 +OMIM:611858 skos:exactMatch HGNC:16685 Unspecified MRPL54 +OMIM:611858 skos:exactMatch UMLS:C1424484 Unspecified MRPL54 +OMIM:611858 skos:exactMatch HGNC_symbol:MRPL54 Unspecified MRPL54 +OMIM:611859 skos:exactMatch HGNC:16686 Unspecified MRPL55 +OMIM:611859 skos:exactMatch UMLS:C1424485 Unspecified MRPL55 +OMIM:611859 skos:exactMatch HGNC_symbol:MRPL55 Unspecified MRPL55 +OMIM:611856 skos:exactMatch HGNC:16655 Unspecified MRPL52 +OMIM:611856 skos:exactMatch UMLS:C1424470 Unspecified MRPL52 +OMIM:611856 skos:exactMatch HGNC_symbol:MRPL52 Unspecified MRPL52 +OMIM:611857 skos:exactMatch HGNC:16684 Unspecified MRPL53 +OMIM:611857 skos:exactMatch UMLS:C1424483 Unspecified MRPL53 +OMIM:611857 skos:exactMatch HGNC_symbol:MRPL53 Unspecified MRPL53 +OMIM:611854 skos:exactMatch HGNC:16654 Unspecified MRPL50 +OMIM:611854 skos:exactMatch UMLS:C1424469 Unspecified MRPL50 +OMIM:611854 skos:exactMatch HGNC_symbol:MRPL50 Unspecified MRPL50 +OMIM:611855 skos:exactMatch HGNC:14044 Unspecified MRPL51 +OMIM:611855 skos:exactMatch HGNC_symbol:MRPL51 Unspecified MRPL51 +OMIM:611855 skos:exactMatch UMLS:C1422368 Unspecified MRPL51 +OMIM:611852 skos:exactMatch UMLS:C1424467 Unspecified MRPL47 +OMIM:611852 skos:exactMatch HGNC_symbol:MRPL47 Unspecified MRPL47 +OMIM:611852 skos:exactMatch HGNC:16652 Unspecified MRPL47 +OMIM:611853 skos:exactMatch HGNC:16653 Unspecified MRPL48 +OMIM:611853 skos:exactMatch UMLS:C1424468 Unspecified MRPL48 +OMIM:611853 skos:exactMatch HGNC_symbol:MRPL48 Unspecified MRPL48 +OMIM:611850 skos:exactMatch UMLS:C1424466 Unspecified MRPL45 +OMIM:611850 skos:exactMatch HGNC_symbol:MRPL45 Unspecified MRPL45 +OMIM:611850 skos:exactMatch HGNC:16651 Unspecified MRPL45 +OMIM:611851 skos:exactMatch UMLS:C1412889 Unspecified MRPL46 +OMIM:611851 skos:exactMatch HGNC_symbol:MRPL46 Unspecified MRPL46 +OMIM:611851 skos:exactMatch HGNC:1192 Unspecified MRPL46 +OMIM:151570 skos:exactMatch HGNC:6710 Unspecified LTA4H +OMIM:151570 skos:exactMatch HGNC_symbol:LTA4H Unspecified LTA4H +OMIM:151570 skos:exactMatch UMLS:C1416927 Unspecified LTA4H +OMIM:608213 skos:exactMatch UMLS:C1824699 Unspecified CEND1 +OMIM:608213 skos:exactMatch HGNC_symbol:CEND1 Unspecified CEND1 +OMIM:608213 skos:exactMatch HGNC:24153 Unspecified CEND1 +OMIM:608212 skos:exactMatch HGNC:29597 Unspecified IRGM +OMIM:608212 skos:exactMatch UMLS:C2677079 Unspecified IRGM +OMIM:608212 skos:exactMatch HGNC_symbol:IRGM Unspecified IRGM +OMIM:608212 skos:exactMatch UMLS:C1537424 Unspecified IRGM +OMIM:608211 skos:exactMatch HGNC:21031 Unspecified KAAG1 +OMIM:608211 skos:exactMatch HGNC_symbol:KAAG1 Unspecified KAAG1 +OMIM:608211 skos:exactMatch UMLS:C1427257 Unspecified KAAG1 +OMIM:608210 skos:exactMatch UMLS:C1851413 Unspecified EXT2 +OMIM:608210 skos:exactMatch UMLS:C0694879 Unspecified EXT2 +OMIM:608210 skos:exactMatch HGNC_symbol:EXT2 Unspecified EXT2 +OMIM:608210 skos:exactMatch UMLS:C5193209 Unspecified EXT2 +OMIM:608210 skos:exactMatch UMLS:C4225248 Unspecified EXT2 +OMIM:608210 skos:exactMatch HGNC:3513 Unspecified EXT2 +OMIM:608217 skos:exactMatch UMLS:C1842382 Unspecified seizures, benign familial neonatal, 3 +OMIM:608216 skos:exactMatch HGNC:17902 Unspecified COMMD5 +OMIM:608216 skos:exactMatch HGNC_symbol:COMMD5 Unspecified COMMD5 +OMIM:608216 skos:exactMatch UMLS:C1425162 Unspecified COMMD5 +OMIM:608215 skos:exactMatch HGNC:21735 Unspecified LHX6 +OMIM:608215 skos:exactMatch UMLS:C1427729 Unspecified LHX6 +OMIM:608215 skos:exactMatch HGNC_symbol:LHX6 Unspecified LHX6 +OMIM:608214 skos:exactMatch UMLS:C2751088 Unspecified SCN3B +OMIM:608214 skos:exactMatch UMLS:C4013699 Unspecified SCN3B +OMIM:608214 skos:exactMatch UMLS:C1427065 Unspecified SCN3B +OMIM:608214 skos:exactMatch UMLS:C2986382 Unspecified SCN3B +OMIM:608214 skos:exactMatch HGNC:20665 Unspecified SCN3B +OMIM:608214 skos:exactMatch HGNC_symbol:SCN3B Unspecified SCN3B +OMIM:608214 skos:exactMatch UMLS:C4017659 Unspecified SCN3B +OMIM:187501 skos:exactMatch UMLS:C1861234 Unspecified tetralogy of fallot and glaucoma +OMIM:187500 skos:exactMatch UMLS:C0039685 Unspecified tetralogy of fallot +OMIM:611849 skos:exactMatch HGNC:16650 Unspecified MRPL44 +OMIM:611849 skos:exactMatch UMLS:C1424465 Unspecified MRPL44 +OMIM:611849 skos:exactMatch HGNC_symbol:MRPL44 Unspecified MRPL44 +OMIM:271322 skos:exactMatch UMLS:C0752121 Unspecified spinocerebellar degeneration with slow eye movements +OMIM:611847 skos:exactMatch HGNC:14493 Unspecified MRPL42 +OMIM:611847 skos:exactMatch HGNC_symbol:MRPL42 Unspecified MRPL42 +OMIM:611847 skos:exactMatch UMLS:C1422699 Unspecified MRPL42 +OMIM:271320 skos:exactMatch UMLS:C1849085 Unspecified spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia +OMIM:611848 skos:exactMatch HGNC:14517 Unspecified MRPL43 +OMIM:611848 skos:exactMatch HGNC_symbol:MRPL43 Unspecified MRPL43 +OMIM:611848 skos:exactMatch UMLS:C1422722 Unspecified MRPL43 +OMIM:611845 skos:exactMatch HGNC:14027 Unspecified MRPL39 +OMIM:611845 skos:exactMatch HGNC_symbol:MRPL39 Unspecified MRPL39 +OMIM:611845 skos:exactMatch UMLS:C1422361 Unspecified MRPL39 +OMIM:611846 skos:exactMatch HGNC:14492 Unspecified MRPL41 +OMIM:611846 skos:exactMatch HGNC_symbol:MRPL41 Unspecified MRPL41 +OMIM:611846 skos:exactMatch UMLS:C1422698 Unspecified MRPL41 +OMIM:611843 skos:exactMatch HGNC:14034 Unspecified MRPL37 +OMIM:611843 skos:exactMatch HGNC_symbol:MRPL37 Unspecified MRPL37 +OMIM:611843 skos:exactMatch UMLS:C1422363 Unspecified MRPL37 +OMIM:611844 skos:exactMatch HGNC:14033 Unspecified MRPL38 +OMIM:611844 skos:exactMatch HGNC_symbol:MRPL38 Unspecified MRPL38 +OMIM:611844 skos:exactMatch UMLS:C1422362 Unspecified MRPL38 +OMIM:611841 skos:exactMatch HGNC:14489 Unspecified MRPL35 +OMIM:611841 skos:exactMatch HGNC_symbol:MRPL35 Unspecified MRPL35 +OMIM:611841 skos:exactMatch UMLS:C1422695 Unspecified MRPL35 +OMIM:611842 skos:exactMatch HGNC:14490 Unspecified MRPL36 +OMIM:611842 skos:exactMatch HGNC_symbol:MRPL36 Unspecified MRPL36 +OMIM:611842 skos:exactMatch UMLS:C1422696 Unspecified MRPL36 +OMIM:611840 skos:exactMatch HGNC:14488 Unspecified MRPL34 +OMIM:611840 skos:exactMatch HGNC_symbol:MRPL34 Unspecified MRPL34 +OMIM:611840 skos:exactMatch UMLS:C1422694 Unspecified MRPL34 +OMIM:608202 skos:exactMatch HGNC:18673 Unspecified CDK5RAP3 +OMIM:608202 skos:exactMatch HGNC_symbol:CDK5RAP3 Unspecified CDK5RAP3 +OMIM:608202 skos:exactMatch UMLS:C1425697 Unspecified CDK5RAP3 +OMIM:608201 skos:exactMatch HGNC:18672 Unspecified CDK5RAP2 +OMIM:608201 skos:exactMatch HGNC_symbol:CDK5RAP2 Unspecified CDK5RAP2 +OMIM:608201 skos:exactMatch UMLS:C1425696 Unspecified CDK5RAP2 +OMIM:608200 skos:exactMatch HGNC_symbol:CDK5RAP1 Unspecified CDK5RAP1 +OMIM:608200 skos:exactMatch HGNC:15880 Unspecified CDK5RAP1 +OMIM:608200 skos:exactMatch UMLS:C1423801 Unspecified CDK5RAP1 +OMIM:608206 skos:exactMatch UMLS:C1539765 Unspecified SH3TC2 +OMIM:608206 skos:exactMatch UMLS:C3150596 Unspecified SH3TC2 +OMIM:608206 skos:exactMatch UMLS:C1866636 Unspecified SH3TC2 +OMIM:608206 skos:exactMatch HGNC:29427 Unspecified SH3TC2 +OMIM:608206 skos:exactMatch HGNC_symbol:SH3TC2 Unspecified SH3TC2 +OMIM:608205 skos:exactMatch HGNC:19691 Unspecified MECR +OMIM:608205 skos:exactMatch HGNC_symbol:MECR Unspecified MECR +OMIM:608205 skos:exactMatch UMLS:C1825958 Unspecified MECR +OMIM:608204 skos:exactMatch HGNC_symbol:UNC93B1 Unspecified UNC93B1 +OMIM:608204 skos:exactMatch UMLS:C2750180 Unspecified UNC93B1 +OMIM:608204 skos:exactMatch HGNC:13481 Unspecified UNC93B1 +OMIM:608204 skos:exactMatch UMLS:C1422014 Unspecified UNC93B1 +OMIM:608203 skos:exactMatch UMLS:C1842398 Unspecified immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis +OMIM:608203 skos:exactMatch ORPHA:183707 Unspecified immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis +OMIM:611838 skos:exactMatch HGNC:14036 Unspecified MRPL30 +OMIM:611838 skos:exactMatch HGNC_symbol:MRPL30 Unspecified MRPL30 +OMIM:611838 skos:exactMatch UMLS:C1422365 Unspecified MRPL30 +OMIM:187510 skos:exactMatch UMLS:C1861233 Unspecified tetramelic monodactyly +OMIM:611839 skos:exactMatch HGNC:14035 Unspecified MRPL32 +OMIM:611839 skos:exactMatch HGNC_symbol:MRPL32 Unspecified MRPL32 +OMIM:611839 skos:exactMatch UMLS:C1422364 Unspecified MRPL32 +OMIM:611836 skos:exactMatch HGNC:14037 Unspecified MRPL24 +OMIM:611836 skos:exactMatch HGNC_symbol:MRPL24 Unspecified MRPL24 +OMIM:611836 skos:exactMatch UMLS:C1422366 Unspecified MRPL24 +OMIM:271310 skos:exactMatch UMLS:C1849087 Unspecified spinocerebellar degeneration and corneal dystrophy +OMIM:611837 skos:exactMatch HGNC:14483 Unspecified MRPL27 +OMIM:611837 skos:exactMatch HGNC_symbol:MRPL27 Unspecified MRPL27 +OMIM:611837 skos:exactMatch UMLS:C1422689 Unspecified MRPL27 +OMIM:611834 skos:exactMatch HGNC:14479 Unspecified MRPL21 +OMIM:611834 skos:exactMatch HGNC_symbol:MRPL21 Unspecified MRPL21 +OMIM:611834 skos:exactMatch UMLS:C1422685 Unspecified MRPL21 +OMIM:611835 skos:exactMatch HGNC:14480 Unspecified MRPL22 +OMIM:611835 skos:exactMatch HGNC_symbol:MRPL22 Unspecified MRPL22 +OMIM:611835 skos:exactMatch UMLS:C1422686 Unspecified MRPL22 +OMIM:611832 skos:exactMatch HGNC:14052 Unspecified MRPL19 +OMIM:611832 skos:exactMatch HGNC_symbol:MRPL19 Unspecified MRPL19 +OMIM:611832 skos:exactMatch UMLS:C1422376 Unspecified MRPL19 +OMIM:261990 skos:exactMatch UMLS:C1849811 Unspecified abnormal hair, joint laxity, and developmental delay +OMIM:611833 skos:exactMatch HGNC:14478 Unspecified MRPL20 +OMIM:611833 skos:exactMatch HGNC_symbol:MRPL20 Unspecified MRPL20 +OMIM:611833 skos:exactMatch UMLS:C1422684 Unspecified MRPL20 +OMIM:611830 skos:exactMatch HGNC:14053 Unspecified MRPL17 +OMIM:611830 skos:exactMatch HGNC_symbol:MRPL17 Unspecified MRPL17 +OMIM:611830 skos:exactMatch UMLS:C1422377 Unspecified MRPL17 +OMIM:258360 skos:exactMatch UMLS:C1850316 Unspecified onychotrichodysplasia and neutropenia +OMIM:611831 skos:exactMatch HGNC:14477 Unspecified MRPL18 +OMIM:611831 skos:exactMatch HGNC_symbol:MRPL18 Unspecified MRPL18 +OMIM:611831 skos:exactMatch UMLS:C1422683 Unspecified MRPL18 +OMIM:151590 skos:exactMatch UMLS:C0023652 Unspecified lichen sclerosus et atrophicus +OMIM:608260 skos:exactMatch HGNC:18864 Unspecified KCNH8 +OMIM:608260 skos:exactMatch HGNC_symbol:KCNH8 Unspecified KCNH8 +OMIM:608260 skos:exactMatch UMLS:C1425835 Unspecified KCNH8 +OMIM:608264 skos:exactMatch UMLS:C1842345 Unspecified deafness, autosomal recessive 40 +OMIM:608263 skos:exactMatch UMLS:C1842347 Unspecified HSPBAP1 +OMIM:608263 skos:exactMatch HGNC_symbol:HSPBAP1 Unspecified HSPBAP1 +OMIM:608263 skos:exactMatch HGNC:16389 Unspecified HSPBAP1 +OMIM:608263 skos:exactMatch UMLS:C1424240 Unspecified HSPBAP1 +OMIM:608262 skos:exactMatch UMLS:C1842347 Unspecified DIRC3 +OMIM:608262 skos:exactMatch HGNC:17805 Unspecified DIRC3 +OMIM:608262 skos:exactMatch UMLS:C1425089 Unspecified DIRC3 +OMIM:608262 skos:exactMatch HGNC_symbol:DIRC3 Unspecified DIRC3 +OMIM:608261 skos:exactMatch HGNC:23116 Unspecified SENP2 +OMIM:608261 skos:exactMatch UMLS:C1427927 Unspecified SENP2 +OMIM:608261 skos:exactMatch HGNC_symbol:SENP2 Unspecified SENP2 +OMIM:258320 skos:exactMatch UMLS:C1850317 Unspecified omphalocele-cleft palate syndrome, lethal +OMIM:234350 skos:exactMatch UMLS:C0241913 Unspecified halothane hepatitis +OMIM:608268 skos:exactMatch HGNC:19903 Unspecified RRAGD +OMIM:608268 skos:exactMatch HGNC_symbol:RRAGD Unspecified RRAGD +OMIM:608268 skos:exactMatch UMLS:C1426518 Unspecified RRAGD +OMIM:608267 skos:exactMatch HGNC:19902 Unspecified RRAGC +OMIM:608267 skos:exactMatch HGNC_symbol:RRAGC Unspecified RRAGC +OMIM:608267 skos:exactMatch UMLS:C1426517 Unspecified RRAGC +OMIM:608266 skos:exactMatch UMLS:C0687150 Unspecified parathyroid carcinoma +OMIM:608265 skos:exactMatch UMLS:C1842342 Unspecified deafness, autosomal recessive 39 +OMIM:608269 skos:exactMatch UMLS:C1424316 Unspecified SLC28A3 +OMIM:608269 skos:exactMatch HGNC_symbol:SLC28A3 Unspecified SLC28A3 +OMIM:608269 skos:exactMatch HGNC:16484 Unspecified SLC28A3 +OMIM:611898 skos:exactMatch UMLS:C2681929 Unspecified ENGASE +OMIM:611898 skos:exactMatch HGNC:24622 Unspecified ENGASE +OMIM:611898 skos:exactMatch HGNC_symbol:ENGASE Unspecified ENGASE +OMIM:611899 skos:exactMatch HGNC_symbol:MIR203A Unspecified MIR203 +OMIM:611899 skos:exactMatch UMLS:C1537841 Unspecified MIR203 +OMIM:611899 skos:exactMatch HGNC:31581 Unspecified MIR203 +OMIM:611896 skos:exactMatch HGNC_symbol:RTL1 Unspecified RTL1 +OMIM:611896 skos:exactMatch UMLS:C1826950 Unspecified RTL1 +OMIM:611896 skos:exactMatch HGNC:14665 Unspecified RTL1 +OMIM:611897 skos:exactMatch UMLS:C2678467 Unspecified nanophthalmos 3 +OMIM:611894 skos:exactMatch UMLS:C1537794 Unspecified MIR140 +OMIM:611894 skos:exactMatch HGNC_symbol:MIR140 Unspecified MIR140 +OMIM:611894 skos:exactMatch HGNC:31527 Unspecified MIR140 +OMIM:611895 skos:exactMatch UMLS:C2678468 Unspecified amyotrophic lateral sclerosis 9 +OMIM:611892 skos:exactMatch UMLS:C2678469 Unspecified aneurysm, intracranial berry, 6 +OMIM:611893 skos:exactMatch HGNC_symbol:PLEKHG2 Unspecified PLEKHG2 +OMIM:611893 skos:exactMatch UMLS:C1538673 Unspecified PLEKHG2 +OMIM:611893 skos:exactMatch HGNC:29515 Unspecified PLEKHG2 +OMIM:608253 skos:exactMatch HGNC:30719 Unspecified TSKS +OMIM:608253 skos:exactMatch HGNC_symbol:TSKS Unspecified TSKS +OMIM:608253 skos:exactMatch UMLS:C1336680 Unspecified TSKS +OMIM:608252 skos:exactMatch HGNC_symbol:AFAP1 Unspecified AFAP1 +OMIM:608252 skos:exactMatch HGNC:24017 Unspecified AFAP1 +OMIM:608252 skos:exactMatch UMLS:C1842350 Unspecified AFAP1 +OMIM:608251 skos:exactMatch UMLS:C0236801 Unspecified phobia, specific +OMIM:608250 skos:exactMatch UMLS:C1842351 Unspecified SUDS3 +OMIM:608250 skos:exactMatch HGNC:29545 Unspecified SUDS3 +OMIM:608250 skos:exactMatch HGNC_symbol:SUDS3 Unspecified SUDS3 +OMIM:608257 skos:exactMatch UMLS:C1842349 Unspecified mandibulofacial dysostosis with ptosis, autosomal dominant +OMIM:608256 skos:exactMatch UMLS:C2678484 Unspecified SCN4B +OMIM:608256 skos:exactMatch HGNC_symbol:SCN4B Unspecified SCN4B +OMIM:608256 skos:exactMatch UMLS:C1419863 Unspecified SCN4B +OMIM:608256 skos:exactMatch HGNC:10592 Unspecified SCN4B +OMIM:608256 skos:exactMatch UMLS:C4013560 Unspecified SCN4B +OMIM:608255 skos:exactMatch HGNC:30766 Unspecified TRAF3IP3 +OMIM:608255 skos:exactMatch HGNC_symbol:TRAF3IP3 Unspecified TRAF3IP3 +OMIM:608255 skos:exactMatch UMLS:C1823476 Unspecified TRAF3IP3 +OMIM:608254 skos:exactMatch HGNC:8624 Unspecified PAXIP1 +OMIM:608254 skos:exactMatch HGNC_symbol:PAXIP1 Unspecified PAXIP1 +OMIM:608254 skos:exactMatch UMLS:C1538593 Unspecified PAXIP1 +OMIM:608259 skos:exactMatch HGNC:28868 Unspecified IGF2BP3 +OMIM:608259 skos:exactMatch HGNC_symbol:IGF2BP3 Unspecified IGF2BP3 +OMIM:608259 skos:exactMatch UMLS:C1825578 Unspecified IGF2BP3 +OMIM:608258 skos:exactMatch HGNC_symbol:DPP9 Unspecified DPP9 +OMIM:608258 skos:exactMatch UMLS:C1425675 Unspecified DPP9 +OMIM:608258 skos:exactMatch HGNC:18648 Unspecified DPP9 +OMIM:611889 skos:exactMatch HGNC_symbol:S100PBP Unspecified S100PBP +OMIM:611889 skos:exactMatch HGNC:25768 Unspecified S100PBP +OMIM:611889 skos:exactMatch UMLS:C1826964 Unspecified S100PBP +OMIM:611887 skos:exactMatch HGNC_symbol:UPK3B Unspecified UPK3B +OMIM:611887 skos:exactMatch HGNC:21444 Unspecified UPK3B +OMIM:611887 skos:exactMatch UMLS:C1427559 Unspecified UPK3B +OMIM:611888 skos:exactMatch UMLS:C1333360 Unspecified ERF +OMIM:611888 skos:exactMatch HGNC:3444 Unspecified ERF +OMIM:611888 skos:exactMatch HGNC_symbol:ERF Unspecified ERF +OMIM:611885 skos:exactMatch HGNC_symbol:SHARPIN Unspecified SHARPIN +OMIM:611885 skos:exactMatch HGNC:25321 Unspecified SHARPIN +OMIM:611885 skos:exactMatch UMLS:C1822714 Unspecified SHARPIN +OMIM:611886 skos:exactMatch UMLS:C2678472 Unspecified mesomelic dysplasia, camera iia +OMIM:611883 skos:exactMatch HGNC_symbol:BCCIP Unspecified BCCIP +OMIM:611883 skos:exactMatch HGNC:978 Unspecified BCCIP +OMIM:611883 skos:exactMatch UMLS:C1412753 Unspecified BCCIP +OMIM:611884 skos:exactMatch UMLS:C2678473 Unspecified ciliary dyskinesia, primary, 7 +OMIM:611881 skos:exactMatch UMLS:C0272066 Unspecified glycogen storage disease 12 +OMIM:611882 skos:exactMatch HGNC:23158 Unspecified PNRC2 +OMIM:611882 skos:exactMatch UMLS:C1427954 Unspecified PNRC2 +OMIM:611882 skos:exactMatch HGNC_symbol:PNRC2 Unspecified PNRC2 +OMIM:611890 skos:exactMatch UMLS:C5193016 Unspecified congenital arthrogryposis with anterior horn cell disease +OMIM:611891 skos:exactMatch UMLS:C2678470 Unspecified aortic aneurysm, familial abdominal, 3 +OMIM:608242 skos:exactMatch HGNC:24368 Unspecified HERC5 +OMIM:608242 skos:exactMatch UMLS:C1332749 Unspecified HERC5 +OMIM:608242 skos:exactMatch HGNC_symbol:HERC5 Unspecified HERC5 +OMIM:258300 skos:exactMatch UMLS:C1850319 Unspecified cerebellar ataxia and albinism +OMIM:608241 skos:exactMatch UMLS:C1822806 Unspecified SNIP1 +OMIM:608241 skos:exactMatch HGNC:30587 Unspecified SNIP1 +OMIM:608241 skos:exactMatch HGNC_symbol:SNIP1 Unspecified SNIP1 +OMIM:608240 skos:exactMatch HGNC:30424 Unspecified SPPL3 +OMIM:608240 skos:exactMatch UMLS:C1842354 Unspecified SPPL3 +OMIM:608240 skos:exactMatch HGNC_symbol:SPPL3 Unspecified SPPL3 +OMIM:608246 skos:exactMatch HGNC:28932 Unspecified KRT72 +OMIM:608246 skos:exactMatch HGNC_symbol:KRT72 Unspecified KRT72 +OMIM:608246 skos:exactMatch UMLS:C1825760 Unspecified KRT72 +OMIM:608245 skos:exactMatch HGNC:28927 Unspecified KRT71 +OMIM:608245 skos:exactMatch HGNC_symbol:KRT71 Unspecified KRT71 +OMIM:608245 skos:exactMatch UMLS:C1825759 Unspecified KRT71 +OMIM:608244 skos:exactMatch UMLS:C1842353 Unspecified otosclerosis 3 +OMIM:608243 skos:exactMatch HGNC_symbol:NSMCE3 Unspecified NSMCE3 +OMIM:608243 skos:exactMatch HGNC:7677 Unspecified NSMCE3 +OMIM:608243 skos:exactMatch UMLS:C4310653 Unspecified NSMCE3 +OMIM:608243 skos:exactMatch UMLS:C1417615 Unspecified NSMCE3 +OMIM:608249 skos:exactMatch UMLS:C1426243 Unspecified CCNB1IP1 +OMIM:608249 skos:exactMatch HGNC_symbol:CCNB1IP1 Unspecified CCNB1IP1 +OMIM:608249 skos:exactMatch HGNC:19437 Unspecified CCNB1IP1 +OMIM:608249 skos:exactMatch UMLS:C1842352 Unspecified CCNB1IP1 +OMIM:608248 skos:exactMatch HGNC:28929 Unspecified KRT74 +OMIM:608248 skos:exactMatch HGNC_symbol:KRT74 Unspecified KRT74 +OMIM:608248 skos:exactMatch UMLS:C1825762 Unspecified KRT74 +OMIM:608247 skos:exactMatch HGNC:28928 Unspecified KRT73 +OMIM:608247 skos:exactMatch HGNC_symbol:KRT73 Unspecified KRT73 +OMIM:608247 skos:exactMatch UMLS:C1825761 Unspecified KRT73 +OMIM:608229 skos:exactMatch UMLS:C1427754 Unspecified NANOS3 +OMIM:608229 skos:exactMatch HGNC_symbol:NANOS3 Unspecified NANOS3 +OMIM:608229 skos:exactMatch HGNC:22048 Unspecified NANOS3 +OMIM:611878 skos:exactMatch UMLS:C2678476 Unspecified cardiomyopathy, dilated, 1y +OMIM:611878 skos:exactMatch UMLS:C3808145 Unspecified cardiomyopathy, dilated, 1y +OMIM:611879 skos:exactMatch UMLS:C2678475 Unspecified cardiomyopathy, dilated, 1z +OMIM:611876 skos:exactMatch UMLS:C2678477 Unspecified brugada syndrome 4 +OMIM:611877 skos:exactMatch UMLS:C1538314 Unspecified BAIAP2L1 +OMIM:611877 skos:exactMatch HGNC:21649 Unspecified BAIAP2L1 +OMIM:611877 skos:exactMatch HGNC_symbol:BAIAP2L1 Unspecified BAIAP2L1 +OMIM:611874 skos:exactMatch HGNC:30384 Unspecified NENF +OMIM:611874 skos:exactMatch UMLS:C1826397 Unspecified NENF +OMIM:611874 skos:exactMatch HGNC_symbol:NENF Unspecified NENF +OMIM:611875 skos:exactMatch UMLS:C2678478 Unspecified brugada syndrome 3 +OMIM:611872 skos:exactMatch HGNC:26567 Unspecified FAM82A1 +OMIM:611872 skos:exactMatch HGNC_symbol:RMDN2 Unspecified FAM82A1 +OMIM:611872 skos:exactMatch UMLS:C1825158 Unspecified FAM82A1 +OMIM:611873 skos:exactMatch HGNC:25550 Unspecified FAM82A2 +OMIM:611873 skos:exactMatch HGNC_symbol:RMDN3 Unspecified FAM82A2 +OMIM:611873 skos:exactMatch UMLS:C1825160 Unspecified FAM82A2 +OMIM:611870 skos:exactMatch HGNC_symbol:CNTLN Unspecified CNTLN +OMIM:611870 skos:exactMatch HGNC:23432 Unspecified CNTLN +OMIM:611870 skos:exactMatch UMLS:C1428082 Unspecified CNTLN +OMIM:187550 skos:exactMatch UMLS:C1861232 Unspecified thalassemia, beta+, silent allele +OMIM:611871 skos:exactMatch HGNC:24285 Unspecified FAM82B +OMIM:611871 skos:exactMatch HGNC_symbol:RMDN1 Unspecified FAM82B +OMIM:611871 skos:exactMatch UMLS:C1825159 Unspecified FAM82B +OMIM:258315 skos:exactMatch UMLS:C1850318 Unspecified omodysplasia 1 +OMIM:611880 skos:exactMatch UMLS:C2678474 Unspecified cardiomyopathy, dilated, 2a +OMIM:608231 skos:exactMatch HGNC_symbol:RASSF8 Unspecified RASSF8 +OMIM:608231 skos:exactMatch HGNC:13232 Unspecified RASSF8 +OMIM:608231 skos:exactMatch UMLS:C1826768 Unspecified RASSF8 +OMIM:608230 skos:exactMatch HGNC_symbol:CACNA1I Unspecified CACNA1I +OMIM:608230 skos:exactMatch UMLS:C1413063 Unspecified CACNA1I +OMIM:608230 skos:exactMatch HGNC:1396 Unspecified CACNA1I +OMIM:608235 skos:exactMatch HGNC:24145 Unspecified GAL3ST4 +OMIM:608235 skos:exactMatch UMLS:C1428353 Unspecified GAL3ST4 +OMIM:608235 skos:exactMatch HGNC_symbol:GAL3ST4 Unspecified GAL3ST4 +OMIM:608234 skos:exactMatch HGNC:24144 Unspecified GAL3ST3 +OMIM:608234 skos:exactMatch UMLS:C1428352 Unspecified GAL3ST3 +OMIM:608234 skos:exactMatch HGNC_symbol:GAL3ST3 Unspecified GAL3ST3 +OMIM:608233 skos:exactMatch UMLS:C1842362 Unspecified hermansky-pudlak syndrome 2 +OMIM:608232 skos:exactMatch UMLS:C1292772 Unspecified leukemia, chronic myeloid +OMIM:608232 skos:exactMatch UMLS:C5193152 Unspecified leukemia, chronic myeloid +OMIM:608232 skos:exactMatch UMLS:C0023473 Unspecified leukemia, chronic myeloid +OMIM:608239 skos:exactMatch HGNC_symbol:SPPL2B Unspecified None +OMIM:608239 skos:exactMatch HGNC:30627 Unspecified None +OMIM:608239 skos:exactMatch UMLS:C1842355 Unspecified None +OMIM:608238 skos:exactMatch HGNC_symbol:SPPL2A Unspecified SPPL2A +OMIM:608238 skos:exactMatch HGNC:30227 Unspecified SPPL2A +OMIM:608238 skos:exactMatch UMLS:C1842356 Unspecified SPPL2A +OMIM:608237 skos:exactMatch UMLS:C1428421 Unspecified GAL3ST2 +OMIM:608237 skos:exactMatch HGNC_symbol:GAL3ST2 Unspecified GAL3ST2 +OMIM:608237 skos:exactMatch HGNC:24869 Unspecified GAL3ST2 +OMIM:608236 skos:exactMatch UMLS:C1842357 Unspecified slowed nerve conduction velocity, autosomal dominant +OMIM:246300 skos:exactMatch UMLS:C1968668 Unspecified leprosy, susceptibility to, 3 +OMIM:608183 skos:exactMatch HGNC_symbol:CHSY1 Unspecified CHSY1 +OMIM:608183 skos:exactMatch UMLS:C1424814 Unspecified CHSY1 +OMIM:608183 skos:exactMatch HGNC:17198 Unspecified CHSY1 +OMIM:608183 skos:exactMatch UMLS:C1854466 Unspecified CHSY1 +OMIM:608182 skos:exactMatch UMLS:C1428931 Unspecified None +OMIM:608182 skos:exactMatch HGNC:30083 Unspecified None +OMIM:608182 skos:exactMatch HGNC_symbol:KCNIP4 Unspecified None +OMIM:608181 skos:exactMatch HGNC:20373 Unspecified ACP33 +OMIM:608181 skos:exactMatch UMLS:C1539838 Unspecified ACP33 +OMIM:608181 skos:exactMatch HGNC_symbol:SPG21 Unspecified ACP33 +OMIM:608180 skos:exactMatch UMLS:C1842422 Unspecified synpolydactyly 2 +OMIM:608187 skos:exactMatch HGNC_symbol:MCM8 Unspecified MCM8 +OMIM:608187 skos:exactMatch HGNC:16147 Unspecified MCM8 +OMIM:608187 skos:exactMatch UMLS:C1424025 Unspecified MCM8 +OMIM:608186 skos:exactMatch HGNC:30378 Unspecified EXOC3 +OMIM:608186 skos:exactMatch HGNC_symbol:EXOC3 Unspecified EXOC3 +OMIM:608186 skos:exactMatch UMLS:C1825075 Unspecified EXOC3 +OMIM:608185 skos:exactMatch HGNC:30389 Unspecified EXOC4 +OMIM:608185 skos:exactMatch HGNC_symbol:EXOC4 Unspecified EXOC4 +OMIM:608185 skos:exactMatch UMLS:C1825077 Unspecified EXOC4 +OMIM:608184 skos:exactMatch UMLS:C1842413 Unspecified immunodeficiency with hyper-igm, iia 4 +OMIM:608189 skos:exactMatch UMLS:C1842402 Unspecified tropical calcific pancreatitis +OMIM:608188 skos:exactMatch HGNC_symbol:CRLS1 Unspecified CRLS1 +OMIM:608188 skos:exactMatch HGNC:16148 Unspecified CRLS1 +OMIM:608188 skos:exactMatch UMLS:C1824795 Unspecified CRLS1 +OMIM:608172 skos:exactMatch UMLS:C1427027 Unspecified DHDDS +OMIM:608172 skos:exactMatch HGNC_symbol:DHDDS Unspecified DHDDS +OMIM:608172 skos:exactMatch HGNC:20603 Unspecified DHDDS +OMIM:608171 skos:exactMatch HGNC:20202 Unspecified CACNA2D4 +OMIM:608171 skos:exactMatch UMLS:C1426771 Unspecified CACNA2D4 +OMIM:608171 skos:exactMatch HGNC_symbol:CACNA2D4 Unspecified CACNA2D4 +OMIM:608170 skos:exactMatch HGNC_symbol:DDX41 Unspecified DDX41 +OMIM:608170 skos:exactMatch UMLS:C1425698 Unspecified DDX41 +OMIM:608170 skos:exactMatch UMLS:C4225520 Unspecified DDX41 +OMIM:608170 skos:exactMatch HGNC:18674 Unspecified DDX41 +OMIM:608176 skos:exactMatch UMLS:C1842443 Unspecified autoimmune thyroid disease, susceptibility to, 4 +OMIM:608175 skos:exactMatch UMLS:C1842444 Unspecified autoimmune thyroid disease, susceptibility to, 3 +OMIM:608174 skos:exactMatch UMLS:C1842445 Unspecified autoimmune thyroid disease, susceptibility to, 2 +OMIM:608173 skos:exactMatch UMLS:C1842446 Unspecified autoimmune thyroid disease, susceptibility to, 1 +OMIM:210350 skos:exactMatch UMLS:C1859487 Unspecified biemond syndrome 2 +OMIM:608179 skos:exactMatch HGNC_symbol:ATCAY Unspecified ATCAY +OMIM:608179 skos:exactMatch HGNC:779 Unspecified ATCAY +OMIM:608179 skos:exactMatch UMLS:C1412612 Unspecified ATCAY +OMIM:450000 skos:exactMatch UMLS:C2752148 Unspecified None +OMIM:450000 skos:exactMatch HGNC_symbol:CD99 Unspecified None +OMIM:450000 skos:exactMatch HGNC:7082 Unspecified None +OMIM:608178 skos:exactMatch UMLS:C1427988 Unspecified LUZP2 +OMIM:608178 skos:exactMatch HGNC_symbol:LUZP2 Unspecified LUZP2 +OMIM:608178 skos:exactMatch HGNC:23206 Unspecified LUZP2 +OMIM:608177 skos:exactMatch UMLS:C0008479 Unspecified EXT1 +OMIM:608177 skos:exactMatch HGNC:3512 Unspecified EXT1 +OMIM:608177 skos:exactMatch UMLS:C0015306 Unspecified EXT1 +OMIM:608177 skos:exactMatch UMLS:C0694878 Unspecified EXT1 +OMIM:608177 skos:exactMatch UMLS:C4017146 Unspecified EXT1 +OMIM:608177 skos:exactMatch HGNC_symbol:EXT1 Unspecified EXT1 +OMIM:234300 skos:exactMatch UMLS:C0474824 Unspecified halo nevi +OMIM:273900 skos:exactMatch ORPHA:168629 Unspecified thrombocytopenia 3 +OMIM:273900 skos:exactMatch UMLS:C2678311 Unspecified thrombocytopenia 3 +OMIM:273900 skos:exactMatch ORPHA:268322 Unspecified thrombocytopenia 3 +OMIM:222350 skos:exactMatch UMLS:C1857285 Unspecified diaminopentanuria +OMIM:608161 skos:exactMatch UMLS:C1842914 Unspecified macular dystrophy, vitelliform, 3 +OMIM:608160 skos:exactMatch UMLS:C1842462 Unspecified SOX9 +OMIM:608160 skos:exactMatch UMLS:C1420331 Unspecified SOX9 +OMIM:608160 skos:exactMatch UMLS:C3549544 Unspecified SOX9 +OMIM:608160 skos:exactMatch UMLS:C4723824 Unspecified SOX9 +OMIM:608160 skos:exactMatch UMLS:C4747387 Unspecified SOX9 +OMIM:608160 skos:exactMatch UMLS:C4747386 Unspecified SOX9 +OMIM:608160 skos:exactMatch HGNC_symbol:SOX9 Unspecified SOX9 +OMIM:608160 skos:exactMatch HGNC:11204 Unspecified SOX9 +OMIM:608160 skos:exactMatch UMLS:C2749215 Unspecified SOX9 +OMIM:608160 skos:exactMatch UMLS:C1861923 Unspecified SOX9 +OMIM:608160 skos:exactMatch UMLS:C1861922 Unspecified SOX9 +OMIM:608160 skos:exactMatch UMLS:C4225331 Unspecified SOX9 +OMIM:608165 skos:exactMatch HGNC_symbol:GULP1 Unspecified GULP1 +OMIM:608165 skos:exactMatch HGNC:18649 Unspecified GULP1 +OMIM:608165 skos:exactMatch UMLS:C1425676 Unspecified GULP1 +OMIM:608164 skos:exactMatch HGNC:18861 Unspecified KCNV1 +OMIM:608164 skos:exactMatch HGNC_symbol:KCNV1 Unspecified KCNV1 +OMIM:608164 skos:exactMatch UMLS:C1425832 Unspecified KCNV1 +OMIM:608163 skos:exactMatch HGNC_symbol:EXOC7 Unspecified EXOC7 +OMIM:608163 skos:exactMatch UMLS:C5436732 Unspecified EXOC7 +OMIM:608163 skos:exactMatch UMLS:C1427993 Unspecified EXOC7 +OMIM:608163 skos:exactMatch HGNC:23214 Unspecified EXOC7 +OMIM:608162 skos:exactMatch HGNC_symbol:VTCN1 Unspecified VTCN1 +OMIM:608162 skos:exactMatch HGNC:28873 Unspecified VTCN1 +OMIM:608162 skos:exactMatch UMLS:C1538072 Unspecified VTCN1 +OMIM:608169 skos:exactMatch HGNC:18863 Unspecified KCNH7 +OMIM:608169 skos:exactMatch HGNC_symbol:KCNH7 Unspecified KCNH7 +OMIM:608169 skos:exactMatch UMLS:C1425834 Unspecified KCNH7 +OMIM:608168 skos:exactMatch HGNC:18862 Unspecified KCNH6 +OMIM:608168 skos:exactMatch HGNC_symbol:KCNH6 Unspecified KCNH6 +OMIM:608168 skos:exactMatch UMLS:C1425833 Unspecified KCNH6 +OMIM:608167 skos:exactMatch UMLS:C3554195 Unspecified KCNT1 +OMIM:608167 skos:exactMatch UMLS:C3554306 Unspecified KCNT1 +OMIM:608167 skos:exactMatch HGNC:18865 Unspecified KCNT1 +OMIM:608167 skos:exactMatch HGNC_symbol:KCNT1 Unspecified KCNT1 +OMIM:608167 skos:exactMatch UMLS:C1425836 Unspecified KCNT1 +OMIM:608166 skos:exactMatch HGNC:10727 Unspecified SEMA3E +OMIM:608166 skos:exactMatch HGNC_symbol:SEMA3E Unspecified SEMA3E +OMIM:608166 skos:exactMatch UMLS:C1335810 Unspecified SEMA3E +OMIM:611799 skos:exactMatch UMLS:C1825802 Unspecified LCORL +OMIM:611799 skos:exactMatch HGNC_symbol:LCORL Unspecified LCORL +OMIM:611799 skos:exactMatch HGNC:30776 Unspecified LCORL +OMIM:611799 skos:exactMatch UMLS:C4693012 Unspecified LCORL +OMIM:611797 skos:exactMatch HGNC_symbol:UQCC1 Unspecified UQCC1 +OMIM:611797 skos:exactMatch HGNC:15891 Unspecified UQCC1 +OMIM:611797 skos:exactMatch UMLS:C1423811 Unspecified UQCC1 +OMIM:611798 skos:exactMatch HGNC_symbol:EFR3A Unspecified EFR3A +OMIM:611798 skos:exactMatch HGNC:28970 Unspecified EFR3A +OMIM:611798 skos:exactMatch UMLS:C2239372 Unspecified EFR3A +OMIM:248950 skos:exactMatch UMLS:C0796038 Unspecified mcdonough syndrome +OMIM:611795 skos:exactMatch UMLS:C1537799 Unspecified MIR145 +OMIM:611795 skos:exactMatch HGNC:31532 Unspecified MIR145 +OMIM:611795 skos:exactMatch HGNC_symbol:MIR145 Unspecified MIR145 +OMIM:611796 skos:exactMatch HGNC_symbol:SCG3 Unspecified SCG3 +OMIM:611796 skos:exactMatch HGNC:13707 Unspecified SCG3 +OMIM:611796 skos:exactMatch UMLS:C1422154 Unspecified SCG3 +OMIM:611793 skos:exactMatch UMLS:C1825912 Unspecified LSM12 +OMIM:611793 skos:exactMatch HGNC:26407 Unspecified LSM12 +OMIM:611793 skos:exactMatch HGNC_symbol:LSM12 Unspecified LSM12 +OMIM:611794 skos:exactMatch HGNC_symbol:MIR369 Unspecified MIR369 +OMIM:611794 skos:exactMatch UMLS:C1537890 Unspecified MIR369 +OMIM:611794 skos:exactMatch HGNC:31783 Unspecified MIR369 +OMIM:608150 skos:exactMatch HGNC:19369 Unspecified PPHLN1 +OMIM:608150 skos:exactMatch HGNC_symbol:PPHLN1 Unspecified PPHLN1 +OMIM:608150 skos:exactMatch UMLS:C1426197 Unspecified PPHLN1 +OMIM:608154 skos:exactMatch UMLS:C1842465 Unspecified lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones +OMIM:608153 skos:exactMatch HGNC_symbol:PPP1R14A Unspecified PPP1R14A +OMIM:608153 skos:exactMatch UMLS:C1423014 Unspecified PPP1R14A +OMIM:608153 skos:exactMatch HGNC:14871 Unspecified PPP1R14A +OMIM:608152 skos:exactMatch HGNC:17822 Unspecified PTGES2 +OMIM:608152 skos:exactMatch HGNC_symbol:PTGES2 Unspecified PTGES2 +OMIM:608152 skos:exactMatch UMLS:C1425104 Unspecified PTGES2 +OMIM:608151 skos:exactMatch HGNC_symbol:WDR19 Unspecified WDR19 +OMIM:608151 skos:exactMatch HGNC:18340 Unspecified WDR19 +OMIM:608151 skos:exactMatch UMLS:C1425459 Unspecified WDR19 +OMIM:608158 skos:exactMatch UMLS:C1842463 Unspecified coq-responsive oxphos deficiency +OMIM:608157 skos:exactMatch HGNC_symbol:SLC25A2 Unspecified SLC25A2 +OMIM:608157 skos:exactMatch HGNC:22921 Unspecified SLC25A2 +OMIM:608157 skos:exactMatch UMLS:C1427779 Unspecified SLC25A2 +OMIM:210370 skos:exactMatch UMLS:C1859486 Unspecified bietti crystalline corneoretinal dystrophy +OMIM:608156 skos:exactMatch UMLS:C1842464 Unspecified nablus mask-like facial syndrome +OMIM:608155 skos:exactMatch HGNC_symbol:SYNPO Unspecified SYNPO +OMIM:608155 skos:exactMatch UMLS:C1428989 Unspecified SYNPO +OMIM:608155 skos:exactMatch HGNC:30672 Unspecified SYNPO +OMIM:608159 skos:exactMatch HGNC_symbol:PRSS21 Unspecified PRSS21 +OMIM:608159 skos:exactMatch UMLS:C1418971 Unspecified PRSS21 +OMIM:608159 skos:exactMatch HGNC:9485 Unspecified PRSS21 +OMIM:200980 skos:exactMatch UMLS:C1860166 Unspecified acrorenal-mandibular syndrome +OMIM:261900 skos:exactMatch UMLS:C0263491 Unspecified pili torti, early-onset +OMIM:200995 skos:exactMatch UMLS:C3495588 Unspecified acrocephalopolydactylous dysplasia +OMIM:200990 skos:exactMatch UMLS:C3277723 Unspecified acrocallosal syndrome +OMIM:200990 skos:exactMatch UMLS:C3280899 Unspecified acrocallosal syndrome +OMIM:200990 skos:exactMatch UMLS:C0796147 Unspecified acrocallosal syndrome +OMIM:248900 skos:exactMatch UMLS:C1855346 Unspecified mast syndrome +OMIM:248900 skos:exactMatch ORPHA:101001 Unspecified mast syndrome +OMIM:608190 skos:exactMatch HGNC:30235 Unspecified NAT8B +OMIM:608190 skos:exactMatch HGNC_symbol:NAT8B Unspecified NAT8B +OMIM:608190 skos:exactMatch UMLS:C1826351 Unspecified NAT8B +OMIM:222300 skos:exactMatch UMLS:C4551693 Unspecified wolfram syndrome 1 +OMIM:222300 skos:exactMatch UMLS:C0043207 Unspecified wolfram syndrome 1 +OMIM:248910 skos:exactMatch UMLS:C3151493 Unspecified cutaneous mastocytosis, conductive hearing loss and microtia +OMIM:248910 skos:exactMatch ORPHA:2135 Unspecified cutaneous mastocytosis, conductive hearing loss and microtia +OMIM:608194 skos:exactMatch UMLS:C2750720 Unspecified cone-rod dystrophy 13 +OMIM:608193 skos:exactMatch HGNC:16879 Unspecified REC8 +OMIM:608193 skos:exactMatch HGNC_symbol:REC8 Unspecified REC8 +OMIM:608193 skos:exactMatch UMLS:C1424613 Unspecified REC8 +OMIM:608192 skos:exactMatch UMLS:C1539736 Unspecified SCYL3 +OMIM:608192 skos:exactMatch HGNC:19285 Unspecified SCYL3 +OMIM:608192 skos:exactMatch HGNC_symbol:SCYL3 Unspecified SCYL3 +OMIM:608191 skos:exactMatch HGNC_symbol:RBAK Unspecified RBAK +OMIM:608191 skos:exactMatch UMLS:C1826772 Unspecified RBAK +OMIM:608191 skos:exactMatch HGNC:17680 Unspecified RBAK +OMIM:608198 skos:exactMatch UMLS:C1428916 Unspecified PGLYRP4 +OMIM:608198 skos:exactMatch HGNC:30015 Unspecified PGLYRP4 +OMIM:608198 skos:exactMatch HGNC_symbol:PGLYRP4 Unspecified PGLYRP4 +OMIM:608197 skos:exactMatch UMLS:C1428915 Unspecified PGLYRP3 +OMIM:608197 skos:exactMatch HGNC:30014 Unspecified PGLYRP3 +OMIM:608197 skos:exactMatch HGNC_symbol:PGLYRP3 Unspecified PGLYRP3 +OMIM:608196 skos:exactMatch UMLS:C1427182 Unspecified WRNIP1 +OMIM:608196 skos:exactMatch HGNC:20876 Unspecified WRNIP1 +OMIM:608196 skos:exactMatch HGNC_symbol:WRNIP1 Unspecified WRNIP1 +OMIM:608195 skos:exactMatch HGNC:14307 Unspecified LRRC1 +OMIM:608195 skos:exactMatch HGNC_symbol:LRRC1 Unspecified LRRC1 +OMIM:608195 skos:exactMatch UMLS:C1422560 Unspecified LRRC1 +OMIM:608199 skos:exactMatch UMLS:C1428914 Unspecified PGLYRP2 +OMIM:608199 skos:exactMatch HGNC:30013 Unspecified PGLYRP2 +OMIM:608199 skos:exactMatch HGNC_symbol:PGLYRP2 Unspecified PGLYRP2 +OMIM:224900 skos:exactMatch UMLS:C3887494 Unspecified ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive +OMIM:200950 skos:exactMatch UMLS:C0268410 Unspecified acid phosphatase deficiency +OMIM:425000 skos:exactMatch HGNC:2435 Unspecified CSF2RY +OMIM:425000 skos:exactMatch UMLS:C1413750 Unspecified CSF2RY +OMIM:425000 skos:exactMatch HGNC_symbol:CSF2RA Unspecified CSF2RY +OMIM:209300 skos:exactMatch UMLS:C0521802 Unspecified atransferrinemia +OMIM:209300 skos:exactMatch UMLS:C3277918 Unspecified atransferrinemia +OMIM:200970 skos:exactMatch UMLS:C1860167 Unspecified ackerman syndrome +OMIM:236900 skos:exactMatch UMLS:C1855986 Unspecified hydroxylysinuria +OMIM:200900 skos:exactMatch UMLS:C1860168 Unspecified short-limb skeletal dysplasia with severe combined immunodeficiency +OMIM:102593 skos:exactMatch HGNC_symbol:AOAH Unspecified AOAH +OMIM:102593 skos:exactMatch HGNC:548 Unspecified AOAH +OMIM:102593 skos:exactMatch UMLS:C1412429 Unspecified AOAH +OMIM:102595 skos:exactMatch HGNC:180 Unspecified ACYP2 +OMIM:102595 skos:exactMatch UMLS:C1412176 Unspecified ACYP2 +OMIM:102595 skos:exactMatch HGNC_symbol:ACYP2 Unspecified ACYP2 +OMIM:126550 skos:exactMatch UMLS:C5193004 Unspecified calvarial doughnut lesions with bone fragility +OMIM:126550 skos:exactMatch UMLS:C1852022 Unspecified calvarial doughnut lesions with bone fragility +OMIM:114580 skos:exactMatch UMLS:C2751429 Unspecified candidiasis, familial, 1 +OMIM:102578 skos:exactMatch HGNC_symbol:PML Unspecified PML +OMIM:102578 skos:exactMatch UMLS:C3887967 Unspecified PML +OMIM:102578 skos:exactMatch HGNC:9113 Unspecified PML +OMIM:102578 skos:exactMatch UMLS:C1366903 Unspecified PML +OMIM:102579 skos:exactMatch HGNC:9969 Unspecified RFC1 +OMIM:102579 skos:exactMatch HGNC_symbol:RFC1 Unspecified RFC1 +OMIM:102579 skos:exactMatch UMLS:C1419348 Unspecified RFC1 +OMIM:102579 skos:exactMatch UMLS:C3281223 Unspecified RFC1 +OMIM:102573 skos:exactMatch HGNC:164 Unspecified ACTN2 +OMIM:102573 skos:exactMatch HGNC_symbol:ACTN2 Unspecified ACTN2 +OMIM:102573 skos:exactMatch UMLS:C1412166 Unspecified ACTN2 +OMIM:102574 skos:exactMatch HGNC:165 Unspecified ACTN3 +OMIM:102574 skos:exactMatch HGNC_symbol:ACTN3 Unspecified ACTN3 +OMIM:102574 skos:exactMatch UMLS:C1412167 Unspecified ACTN3 +OMIM:102575 skos:exactMatch UMLS:C1412165 Unspecified ACTN1 +OMIM:102575 skos:exactMatch HGNC:163 Unspecified ACTN1 +OMIM:102575 skos:exactMatch HGNC_symbol:ACTN1 Unspecified ACTN1 +OMIM:102576 skos:exactMatch HGNC_symbol:ACVR1 Unspecified ACVR1 +OMIM:102576 skos:exactMatch UMLS:C1332012 Unspecified ACVR1 +OMIM:102576 skos:exactMatch HGNC:171 Unspecified ACVR1 +OMIM:102577 skos:exactMatch HGNC:9972 Unspecified RFC4 +OMIM:102577 skos:exactMatch HGNC_symbol:RFC4 Unspecified RFC4 +OMIM:102577 skos:exactMatch UMLS:C1419351 Unspecified RFC4 +OMIM:138500 skos:exactMatch UMLS:C0543541 Unspecified hyperglycinuria +OMIM:114550 skos:exactMatch UMLS:C2239176 Unspecified hepatocellular carcinoma +OMIM:114550 skos:exactMatch ORPHA:33402 Unspecified hepatocellular carcinoma +OMIM:114550 skos:exactMatch ORPHA:88673 Unspecified hepatocellular carcinoma +OMIM:114550 skos:exactMatch UMLS:C0345904 Unspecified hepatocellular carcinoma +OMIM:114550 skos:exactMatch ORPHA:449 Unspecified hepatocellular carcinoma +OMIM:114550 skos:exactMatch ORPHA:210159 Unspecified hepatocellular carcinoma +OMIM:102581 skos:exactMatch HGNC_symbol:ACVR2A Unspecified ACVR2A +OMIM:102581 skos:exactMatch UMLS:C1706636 Unspecified ACVR2A +OMIM:102581 skos:exactMatch HGNC:173 Unspecified ACVR2A +OMIM:102582 skos:exactMatch HGNC:11364 Unspecified STAT3 +OMIM:102582 skos:exactMatch UMLS:C1367307 Unspecified STAT3 +OMIM:102582 skos:exactMatch UMLS:C4014795 Unspecified STAT3 +OMIM:102582 skos:exactMatch HGNC_symbol:STAT3 Unspecified STAT3 +OMIM:102582 skos:exactMatch UMLS:C4721531 Unspecified STAT3 +OMIM:611906 skos:exactMatch UMLS:C1426803 Unspecified FNDC5 +OMIM:611906 skos:exactMatch HGNC_symbol:FNDC5 Unspecified FNDC5 +OMIM:611906 skos:exactMatch HGNC:20240 Unspecified FNDC5 +OMIM:611907 skos:exactMatch UMLS:C2677843 Unspecified episodic ataxia, iia 7 +OMIM:611904 skos:exactMatch HGNC_symbol:PLET1 Unspecified PLET1 +OMIM:611904 skos:exactMatch HGNC:30053 Unspecified PLET1 +OMIM:611904 skos:exactMatch UMLS:C1428928 Unspecified PLET1 +OMIM:611905 skos:exactMatch UMLS:C1426802 Unspecified FNDC4 +OMIM:611905 skos:exactMatch HGNC_symbol:FNDC4 Unspecified FNDC4 +OMIM:611905 skos:exactMatch HGNC:20239 Unspecified FNDC4 +OMIM:611902 skos:exactMatch UMLS:C2240341 Unspecified CCDC136 +OMIM:611902 skos:exactMatch HGNC:22225 Unspecified CCDC136 +OMIM:611902 skos:exactMatch HGNC_symbol:CCDC136 Unspecified CCDC136 +OMIM:611903 skos:exactMatch UMLS:C1823985 Unspecified ZNF649 +OMIM:611903 skos:exactMatch HGNC:25741 Unspecified ZNF649 +OMIM:611903 skos:exactMatch HGNC_symbol:ZNF649 Unspecified ZNF649 +OMIM:112000 skos:exactMatch UMLS:C1862192 Unspecified blood group--ul system +OMIM:611900 skos:exactMatch HGNC:15988 Unspecified MPPE1 +OMIM:611900 skos:exactMatch UMLS:C1423889 Unspecified MPPE1 +OMIM:611900 skos:exactMatch HGNC_symbol:MPPE1 Unspecified MPPE1 +OMIM:611901 skos:exactMatch HGNC_symbol:VWA1 Unspecified VWA1 +OMIM:611901 skos:exactMatch HGNC:30910 Unspecified VWA1 +OMIM:611901 skos:exactMatch UMLS:C1823652 Unspecified VWA1 +OMIM:151600 skos:exactMatch ORPHA:2387 Unspecified nail disorder, nonsyndromic congenital, 3 +OMIM:151600 skos:exactMatch UMLS:C0544855 Unspecified nail disorder, nonsyndromic congenital, 3 +OMIM:102670 skos:exactMatch HGNC:6765 Unspecified MADCAM1 +OMIM:102670 skos:exactMatch HGNC_symbol:MADCAM1 Unspecified MADCAM1 +OMIM:102670 skos:exactMatch UMLS:C1416961 Unspecified MADCAM1 +OMIM:611908 skos:exactMatch HGNC:30220 Unspecified RFT1 +OMIM:611908 skos:exactMatch HGNC_symbol:RFT1 Unspecified RFT1 +OMIM:611908 skos:exactMatch UMLS:C1538829 Unspecified RFT1 +OMIM:611909 skos:exactMatch UMLS:C1539525 Unspecified FNDC3B +OMIM:611909 skos:exactMatch HGNC:24670 Unspecified FNDC3B +OMIM:611909 skos:exactMatch HGNC_symbol:FNDC3B Unspecified FNDC3B +OMIM:114650 skos:exactMatch UMLS:C1861898 Unspecified car factor deficiency +OMIM:151610 skos:exactMatch UMLS:C1835403 Unspecified oculomotor-levator synkinesis +OMIM:102680 skos:exactMatch HGNC_symbol:ADD1 Unspecified ADD1 +OMIM:102680 skos:exactMatch UMLS:C1412230 Unspecified ADD1 +OMIM:102680 skos:exactMatch HGNC:243 Unspecified ADD1 +OMIM:102681 skos:exactMatch HGNC_symbol:ADD2 Unspecified ADD2 +OMIM:102681 skos:exactMatch UMLS:C1412231 Unspecified ADD2 +OMIM:102681 skos:exactMatch HGNC:244 Unspecified ADD2 +OMIM:151628 skos:exactMatch UMLS:C1416907 Unspecified LRE2 +OMIM:151626 skos:exactMatch UMLS:C2681637 Unspecified LRE1 +OMIM:151627 skos:exactMatch UMLS:C1835397 Unspecified None +OMIM:151625 skos:exactMatch UMLS:C1416841 Unspecified LGTN +OMIM:151625 skos:exactMatch HGNC_symbol:LGTN Unspecified LGTN +OMIM:151625 skos:exactMatch HGNC:39494 Unspecified LGTN +OMIM:151623 skos:exactMatch UMLS:C0085390 Unspecified li-fraumeni syndrome +OMIM:151623 skos:exactMatch UMLS:C2675080 Unspecified li-fraumeni syndrome +OMIM:151620 skos:exactMatch UMLS:C1835402 Unspecified lichen planus, familial +OMIM:102650 skos:exactMatch UMLS:C0220660 Unspecified adactylia, unilateral +OMIM:163600 skos:exactMatch UMLS:C0269269 Unspecified nipples inverted +OMIM:136000 skos:exactMatch UMLS:C1852150 Unspecified adermatoglyphia +OMIM:151630 skos:exactMatch UMLS:C1835396 Unspecified lip, median nodule of upper +OMIM:102660 skos:exactMatch UMLS:C0334556 Unspecified adamantinoma of long bones +OMIM:138670 skos:exactMatch HGNC_symbol:A1BG Unspecified A1BG +OMIM:138670 skos:exactMatch HGNC:5 Unspecified A1BG +OMIM:138670 skos:exactMatch UMLS:C1412045 Unspecified A1BG +OMIM:187600 skos:exactMatch UMLS:C1868678 Unspecified thanatophoric dysplasia, iia 1 +OMIM:114620 skos:exactMatch UMLS:C2676032 Unspecified craniofaciofrontodigital syndrome +OMIM:611949 skos:exactMatch HGNC_symbol:MBOAT2 Unspecified MBOAT2 +OMIM:611949 skos:exactMatch UMLS:C1538505 Unspecified MBOAT2 +OMIM:611949 skos:exactMatch HGNC:25193 Unspecified MBOAT2 +OMIM:611946 skos:exactMatch HGNC:14928 Unspecified UBXN6 +OMIM:611946 skos:exactMatch UMLS:C1423061 Unspecified UBXN6 +OMIM:611946 skos:exactMatch HGNC_symbol:UBXN6 Unspecified UBXN6 +OMIM:611947 skos:exactMatch UMLS:C1826442 Unspecified NLRX1 +OMIM:611947 skos:exactMatch HGNC_symbol:NLRX1 Unspecified NLRX1 +OMIM:611947 skos:exactMatch HGNC:29890 Unspecified NLRX1 +OMIM:611944 skos:exactMatch UMLS:C4747568 Unspecified lymphatic malformation 2 +OMIM:611945 skos:exactMatch UMLS:C2936880 Unspecified spastic paraplegia 37, autosomal dominant +OMIM:187601 skos:exactMatch UMLS:C1300257 Unspecified thanatophoric dysplasia, iia 2 +OMIM:611942 skos:exactMatch UMLS:C2749872 Unspecified epilepsy, childhood absence, susceptibility to, 6 +OMIM:611942 skos:exactMatch UMLS:C2677793 Unspecified epilepsy, childhood absence, susceptibility to, 6 +OMIM:611943 skos:exactMatch UMLS:C2677792 Unspecified riddle syndrome +OMIM:611940 skos:exactMatch UMLS:C1825948 Unspecified MBOAT4 +OMIM:611940 skos:exactMatch HGNC:32311 Unspecified MBOAT4 +OMIM:611940 skos:exactMatch HGNC_symbol:MBOAT4 Unspecified MBOAT4 +OMIM:611941 skos:exactMatch UMLS:C1428934 Unspecified ATAD2 +OMIM:611941 skos:exactMatch HGNC:30123 Unspecified ATAD2 +OMIM:611941 skos:exactMatch HGNC_symbol:ATAD2 Unspecified ATAD2 +OMIM:126600 skos:exactMatch UMLS:C1852020 Unspecified doyne honeycomb retinal dystrophy +OMIM:126600 skos:exactMatch ORPHA:75376 Unspecified doyne honeycomb retinal dystrophy +OMIM:126600 skos:exactMatch UMLS:C1832174 Unspecified doyne honeycomb retinal dystrophy +OMIM:151640 skos:exactMatch UMLS:C1835395 Unspecified lip, hamartomatous +OMIM:138680 skos:exactMatch HGNC:349 Unspecified AHSG +OMIM:138680 skos:exactMatch UMLS:C1412296 Unspecified AHSG +OMIM:138680 skos:exactMatch HGNC_symbol:AHSG Unspecified AHSG +OMIM:608301 skos:exactMatch HGNC:18710 Unspecified LGI2 +OMIM:608301 skos:exactMatch HGNC_symbol:LGI2 Unspecified LGI2 +OMIM:608301 skos:exactMatch UMLS:C1425729 Unspecified LGI2 +OMIM:608300 skos:exactMatch HGNC_symbol:NAGS Unspecified NAGS +OMIM:608300 skos:exactMatch UMLS:C1540311 Unspecified NAGS +OMIM:608300 skos:exactMatch HGNC:17996 Unspecified NAGS +OMIM:608305 skos:exactMatch HGNC:23089 Unspecified SLC13A5 +OMIM:608305 skos:exactMatch HGNC_symbol:SLC13A5 Unspecified SLC13A5 +OMIM:608305 skos:exactMatch UMLS:C4014621 Unspecified SLC13A5 +OMIM:608305 skos:exactMatch UMLS:C1427906 Unspecified SLC13A5 +OMIM:102630 skos:exactMatch HGNC:132 Unspecified ACTB +OMIM:102630 skos:exactMatch UMLS:C1384510 Unspecified ACTB +OMIM:102630 skos:exactMatch HGNC_symbol:ACTB Unspecified ACTB +OMIM:608304 skos:exactMatch UMLS:C1538431 Unspecified CTAG3 +OMIM:608304 skos:exactMatch HGNC_symbol:CAGE1 Unspecified CTAG3 +OMIM:608304 skos:exactMatch HGNC:21622 Unspecified CTAG3 +OMIM:608303 skos:exactMatch UMLS:C1425731 Unspecified LGI4 +OMIM:608303 skos:exactMatch UMLS:C4479539 Unspecified LGI4 +OMIM:608303 skos:exactMatch HGNC:18712 Unspecified LGI4 +OMIM:608303 skos:exactMatch HGNC_symbol:LGI4 Unspecified LGI4 +OMIM:608302 skos:exactMatch HGNC:18711 Unspecified LGI3 +OMIM:608302 skos:exactMatch HGNC_symbol:LGI3 Unspecified LGI3 +OMIM:608302 skos:exactMatch UMLS:C1425730 Unspecified LGI3 +OMIM:611939 skos:exactMatch HGNC:5588 Unspecified IGHV3-23 +OMIM:611939 skos:exactMatch UMLS:C1416037 Unspecified IGHV3-23 +OMIM:611939 skos:exactMatch HGNC_symbol:IGHV3-23 Unspecified IGHV3-23 +OMIM:114610 skos:exactMatch HGNC:2159 Unspecified CNR1 +OMIM:114610 skos:exactMatch UMLS:C1413554 Unspecified CNR1 +OMIM:114610 skos:exactMatch HGNC_symbol:CNR1 Unspecified CNR1 +OMIM:611937 skos:exactMatch HGNC:5498 Unspecified IGHD3-3 +OMIM:611937 skos:exactMatch UMLS:C1415953 Unspecified IGHD3-3 +OMIM:611937 skos:exactMatch HGNC_symbol:IGHD3-3 Unspecified IGHD3-3 +OMIM:611938 skos:exactMatch UMLS:C2677794 Unspecified ventricular tachycardia, catecholaminergic polymorphic, 2 +OMIM:611935 skos:exactMatch HGNC_symbol:MMADHC Unspecified MMADHC +OMIM:611935 skos:exactMatch UMLS:C1538998 Unspecified MMADHC +OMIM:611935 skos:exactMatch HGNC:25221 Unspecified MMADHC +OMIM:611936 skos:exactMatch UMLS:C2749873 Unspecified chromosome 3q29 duplication syndrome +OMIM:611933 skos:exactMatch HGNC_symbol:CISD3 Unspecified CISD3 +OMIM:611933 skos:exactMatch HGNC:27578 Unspecified CISD3 +OMIM:611933 skos:exactMatch UMLS:C2239301 Unspecified CISD3 +OMIM:611934 skos:exactMatch UMLS:C2677808 Unspecified epilepsy, idiopathic generalized, susceptibility to, 5 +OMIM:611931 skos:exactMatch HGNC_symbol:PPM1L Unspecified PPM1L +OMIM:611931 skos:exactMatch HGNC:16381 Unspecified PPM1L +OMIM:611931 skos:exactMatch UMLS:C1424233 Unspecified PPM1L +OMIM:611932 skos:exactMatch HGNC_symbol:CISD1 Unspecified CISD1 +OMIM:611932 skos:exactMatch UMLS:C1823935 Unspecified CISD1 +OMIM:611932 skos:exactMatch HGNC:30880 Unspecified CISD1 +OMIM:611930 skos:exactMatch HGNC_symbol:ISG20L2 Unspecified ISG20L2 +OMIM:611930 skos:exactMatch UMLS:C1825623 Unspecified ISG20L2 +OMIM:611930 skos:exactMatch HGNC:25745 Unspecified ISG20L2 +OMIM:102645 skos:exactMatch HGNC_symbol:APEH Unspecified APEH +OMIM:102645 skos:exactMatch HGNC:586 Unspecified APEH +OMIM:102645 skos:exactMatch UMLS:C1332101 Unspecified APEH +OMIM:148000 skos:exactMatch UMLS:C3538945 Unspecified kaposi sarcoma, susceptibility to +OMIM:148000 skos:exactMatch UMLS:C3541461 Unspecified kaposi sarcoma, susceptibility to +OMIM:102642 skos:exactMatch HGNC_symbol:SOAT1 Unspecified SOAT1 +OMIM:102642 skos:exactMatch UMLS:C1420304 Unspecified SOAT1 +OMIM:102642 skos:exactMatch HGNC:11177 Unspecified SOAT1 +OMIM:114600 skos:exactMatch UMLS:C1861899 Unspecified canine teeth, absence of upper permanent +OMIM:611928 skos:exactMatch UMLS:C2677821 Unspecified prostate cancer, hereditary, 13 +OMIM:611929 skos:exactMatch UMLS:C2677809 Unspecified camptodactyly syndrome, guadalajara, iia 3 +OMIM:611926 skos:exactMatch UMLS:C3150156 Unspecified immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis +OMIM:611927 skos:exactMatch HGNC_symbol:FAM83H Unspecified FAM83H +OMIM:611927 skos:exactMatch HGNC:24797 Unspecified FAM83H +OMIM:611927 skos:exactMatch UMLS:C1825168 Unspecified FAM83H +OMIM:611924 skos:exactMatch HGNC_symbol:GJA10 Unspecified GJA10 +OMIM:611924 skos:exactMatch HGNC:16995 Unspecified GJA10 +OMIM:611924 skos:exactMatch UMLS:C2678513 Unspecified GJA10 +OMIM:611925 skos:exactMatch UMLS:C2677835 Unspecified GJC3 +OMIM:611925 skos:exactMatch HGNC_symbol:GJC3 Unspecified GJC3 +OMIM:611925 skos:exactMatch HGNC:17495 Unspecified GJC3 +OMIM:611925 skos:exactMatch UMLS:C2986382 Unspecified GJC3 +OMIM:611922 skos:exactMatch HGNC:23296 Unspecified GJD4 +OMIM:611922 skos:exactMatch HGNC_symbol:GJD4 Unspecified GJD4 +OMIM:611922 skos:exactMatch UMLS:C2239493 Unspecified GJD4 +OMIM:611923 skos:exactMatch HGNC:19155 Unspecified GJA9 +OMIM:611923 skos:exactMatch HGNC_symbol:GJA9 Unspecified GJA9 +OMIM:611923 skos:exactMatch UMLS:C1426046 Unspecified GJA9 +OMIM:611920 skos:exactMatch UMLS:C2677836 Unspecified c-reactive protein, serum level of, quantitative trait locus 1 +OMIM:611921 skos:exactMatch HGNC_symbol:GJB7 Unspecified GJB7 +OMIM:611921 skos:exactMatch HGNC:16690 Unspecified GJB7 +OMIM:611921 skos:exactMatch UMLS:C1424488 Unspecified GJB7 +OMIM:148021 skos:exactMatch HGNC:23604 Unspecified KRTAP5-9 +OMIM:148021 skos:exactMatch UMLS:C1428152 Unspecified KRTAP5-9 +OMIM:148021 skos:exactMatch HGNC_symbol:KRTAP5-9 Unspecified KRTAP5-9 +OMIM:148020 skos:exactMatch UMLS:C1334314 Unspecified KRT19 +OMIM:148020 skos:exactMatch HGNC_symbol:KRT19 Unspecified KRT19 +OMIM:148020 skos:exactMatch HGNC:6436 Unspecified KRT19 +OMIM:151660 skos:exactMatch UMLS:C1720860 Unspecified lipodystrophy, familial partial, iia 2 +OMIM:102610 skos:exactMatch HGNC:129 Unspecified ACTA1 +OMIM:102610 skos:exactMatch HGNC_symbol:ACTA1 Unspecified ACTA1 +OMIM:102610 skos:exactMatch UMLS:C1412136 Unspecified ACTA1 +OMIM:611917 skos:exactMatch HGNC:25840 Unspecified KDM8 +OMIM:611917 skos:exactMatch UMLS:C1825637 Unspecified KDM8 +OMIM:611917 skos:exactMatch HGNC_symbol:KDM8 Unspecified KDM8 +OMIM:611915 skos:exactMatch UMLS:C2677838 Unspecified VOPP1 +OMIM:611915 skos:exactMatch HGNC:34518 Unspecified VOPP1 +OMIM:611915 skos:exactMatch HGNC_symbol:VOPP1 Unspecified VOPP1 +OMIM:611916 skos:exactMatch UMLS:C2239306 Unspecified COL6A5 +OMIM:611916 skos:exactMatch HGNC:26674 Unspecified COL6A5 +OMIM:611916 skos:exactMatch UMLS:C5394585 Unspecified COL6A5 +OMIM:611916 skos:exactMatch HGNC_symbol:COL6A5 Unspecified COL6A5 +OMIM:611913 skos:exactMatch UMLS:C3150154 Unspecified chromosome 16p11.2 deletion syndrome, 593-kb +OMIM:611913 skos:exactMatch UMLS:C3552491 Unspecified chromosome 16p11.2 deletion syndrome, 593-kb +OMIM:611913 skos:exactMatch ORPHA:261197 Unspecified chromosome 16p11.2 deletion syndrome, 593-kb +OMIM:611914 skos:exactMatch HGNC_symbol:TSC22D4 Unspecified TSC22D4 +OMIM:611914 skos:exactMatch UMLS:C1540076 Unspecified TSC22D4 +OMIM:611914 skos:exactMatch HGNC:21696 Unspecified TSC22D4 +OMIM:611911 skos:exactMatch HGNC_symbol:ISCU Unspecified ISCU +OMIM:611911 skos:exactMatch UMLS:C1825620 Unspecified ISCU +OMIM:611911 skos:exactMatch HGNC:29882 Unspecified ISCU +OMIM:611912 skos:exactMatch HGNC_symbol:NUCKS1 Unspecified NUCKS1 +OMIM:611912 skos:exactMatch UMLS:C1826486 Unspecified NUCKS1 +OMIM:611912 skos:exactMatch HGNC:29923 Unspecified NUCKS1 +OMIM:611910 skos:exactMatch UMLS:C4310859 Unspecified SLC16A12 +OMIM:611910 skos:exactMatch HGNC:23094 Unspecified SLC16A12 +OMIM:611910 skos:exactMatch HGNC_symbol:SLC16A12 Unspecified SLC16A12 +OMIM:611910 skos:exactMatch UMLS:C1427911 Unspecified SLC16A12 +OMIM:148030 skos:exactMatch UMLS:C1416722 Unspecified KRT15 +OMIM:148030 skos:exactMatch HGNC_symbol:KRT15 Unspecified KRT15 +OMIM:148030 skos:exactMatch HGNC:6421 Unspecified KRT15 +OMIM:151675 skos:exactMatch UMLS:C1416805 Unspecified LCN1 +OMIM:151675 skos:exactMatch HGNC:6525 Unspecified LCN1 +OMIM:151675 skos:exactMatch HGNC_symbol:LCN1 Unspecified LCN1 +OMIM:148022 skos:exactMatch HGNC:23596 Unspecified KRTAP5-1 +OMIM:148022 skos:exactMatch UMLS:C1428144 Unspecified KRTAP5-1 +OMIM:148022 skos:exactMatch HGNC_symbol:KRTAP5-1 Unspecified KRTAP5-1 +OMIM:151670 skos:exactMatch HGNC_symbol:LIPC Unspecified LIPC +OMIM:151670 skos:exactMatch UMLS:C3837967 Unspecified LIPC +OMIM:151670 skos:exactMatch HGNC:6619 Unspecified LIPC +OMIM:151670 skos:exactMatch UMLS:C2675071 Unspecified LIPC +OMIM:151670 skos:exactMatch UMLS:C3151466 Unspecified LIPC +OMIM:151670 skos:exactMatch UMLS:C1416867 Unspecified LIPC +OMIM:102620 skos:exactMatch UMLS:C3151201 Unspecified ACTA2 +OMIM:102620 skos:exactMatch UMLS:C3279690 Unspecified ACTA2 +OMIM:102620 skos:exactMatch UMLS:C2673186 Unspecified ACTA2 +OMIM:102620 skos:exactMatch HGNC:130 Unspecified ACTA2 +OMIM:102620 skos:exactMatch HGNC_symbol:ACTA2 Unspecified ACTA2 +OMIM:102620 skos:exactMatch UMLS:C1412137 Unspecified ACTA2 +OMIM:611919 skos:exactMatch HGNC:20968 Unspecified RIOX1 +OMIM:611919 skos:exactMatch HGNC_symbol:RIOX1 Unspecified RIOX1 +OMIM:611919 skos:exactMatch UMLS:C1427214 Unspecified RIOX1 +OMIM:161015 skos:exactMatch HGNC:7716 Unspecified NDUFV1 +OMIM:161015 skos:exactMatch UMLS:C1417652 Unspecified NDUFV1 +OMIM:161015 skos:exactMatch HGNC_symbol:NDUFV1 Unspecified NDUFV1 +OMIM:608339 skos:exactMatch HGNC:11446 Unspecified STXBP3 +OMIM:608339 skos:exactMatch UMLS:C1420508 Unspecified STXBP3 +OMIM:608339 skos:exactMatch HGNC_symbol:STXBP3 Unspecified STXBP3 +OMIM:611988 skos:exactMatch HGNC:14045 Unspecified MRPS26 +OMIM:611988 skos:exactMatch UMLS:C1422369 Unspecified MRPS26 +OMIM:611988 skos:exactMatch HGNC_symbol:MRPS26 Unspecified MRPS26 +OMIM:611989 skos:exactMatch HGNC:14512 Unspecified MRPS27 +OMIM:611989 skos:exactMatch HGNC_symbol:MRPS27 Unspecified MRPS27 +OMIM:611989 skos:exactMatch UMLS:C1422717 Unspecified MRPS27 +OMIM:611986 skos:exactMatch HGNC:14510 Unspecified MRPS24 +OMIM:611986 skos:exactMatch UMLS:C1422715 Unspecified MRPS24 +OMIM:611986 skos:exactMatch HGNC_symbol:MRPS24 Unspecified MRPS24 +OMIM:611987 skos:exactMatch HGNC:14511 Unspecified MRPS25 +OMIM:611987 skos:exactMatch HGNC_symbol:MRPS25 Unspecified MRPS25 +OMIM:611987 skos:exactMatch UMLS:C1422716 Unspecified MRPS25 +OMIM:611987 skos:exactMatch UMLS:C5436623 Unspecified MRPS25 +OMIM:611984 skos:exactMatch HGNC:14046 Unspecified MRPS21 +OMIM:611984 skos:exactMatch UMLS:C1422370 Unspecified MRPS21 +OMIM:611984 skos:exactMatch HGNC_symbol:MRPS21 Unspecified MRPS21 +OMIM:611985 skos:exactMatch HGNC:14509 Unspecified MRPS23 +OMIM:611985 skos:exactMatch HGNC_symbol:MRPS23 Unspecified MRPS23 +OMIM:611985 skos:exactMatch UMLS:C1422714 Unspecified MRPS23 +OMIM:611985 skos:exactMatch UMLS:C5436466 Unspecified MRPS23 +OMIM:148043 skos:exactMatch UMLS:C1416740 Unspecified KRT3 +OMIM:148043 skos:exactMatch HGNC:6440 Unspecified KRT3 +OMIM:148043 skos:exactMatch HGNC_symbol:KRT3 Unspecified KRT3 +OMIM:148043 skos:exactMatch UMLS:C5231495 Unspecified KRT3 +OMIM:611982 skos:exactMatch HGNC:14516 Unspecified MRPS18B +OMIM:611982 skos:exactMatch HGNC_symbol:MRPS18B Unspecified MRPS18B +OMIM:611982 skos:exactMatch UMLS:C1422721 Unspecified MRPS18B +OMIM:148042 skos:exactMatch UMLS:C1416744 Unspecified KRT6B +OMIM:148042 skos:exactMatch HGNC_symbol:KRT6B Unspecified KRT6B +OMIM:148042 skos:exactMatch HGNC:6444 Unspecified KRT6B +OMIM:148042 skos:exactMatch UMLS:C3714949 Unspecified KRT6B +OMIM:611983 skos:exactMatch HGNC_symbol:MRPS18C Unspecified MRPS18C +OMIM:611983 skos:exactMatch UMLS:C1424453 Unspecified MRPS18C +OMIM:611983 skos:exactMatch HGNC:16633 Unspecified MRPS18C +OMIM:148041 skos:exactMatch UMLS:C1416743 Unspecified KRT6A +OMIM:148041 skos:exactMatch HGNC_symbol:KRT6A Unspecified KRT6A +OMIM:148041 skos:exactMatch HGNC:6443 Unspecified KRT6A +OMIM:148041 skos:exactMatch UMLS:C3714948 Unspecified KRT6A +OMIM:611980 skos:exactMatch UMLS:C1422371 Unspecified MRPS17 +OMIM:611980 skos:exactMatch HGNC_symbol:MRPS17 Unspecified MRPS17 +OMIM:611980 skos:exactMatch HGNC:14047 Unspecified MRPS17 +OMIM:148040 skos:exactMatch UMLS:C1416742 Unspecified KRT5 +OMIM:148040 skos:exactMatch UMLS:C1836284 Unspecified KRT5 +OMIM:148040 skos:exactMatch UMLS:C0080333 Unspecified KRT5 +OMIM:148040 skos:exactMatch UMLS:C4552092 Unspecified KRT5 +OMIM:148040 skos:exactMatch UMLS:C3715082 Unspecified KRT5 +OMIM:148040 skos:exactMatch HGNC:6442 Unspecified KRT5 +OMIM:148040 skos:exactMatch HGNC_symbol:KRT5 Unspecified KRT5 +OMIM:148040 skos:exactMatch UMLS:C4016235 Unspecified KRT5 +OMIM:148040 skos:exactMatch UMLS:C4016236 Unspecified KRT5 +OMIM:148040 skos:exactMatch UMLS:C0079299 Unspecified KRT5 +OMIM:148040 skos:exactMatch UMLS:C0079295 Unspecified KRT5 +OMIM:148040 skos:exactMatch UMLS:C0432316 Unspecified KRT5 +OMIM:611981 skos:exactMatch HGNC:14515 Unspecified MRPS18A +OMIM:611981 skos:exactMatch HGNC_symbol:MRPS18A Unspecified MRPS18A +OMIM:611981 skos:exactMatch UMLS:C1422720 Unspecified MRPS18A +OMIM:611990 skos:exactMatch HGNC_symbol:MRPS28 Unspecified MRPS28 +OMIM:611990 skos:exactMatch UMLS:C5436476 Unspecified MRPS28 +OMIM:611990 skos:exactMatch UMLS:C1422718 Unspecified MRPS28 +OMIM:611990 skos:exactMatch HGNC:14513 Unspecified MRPS28 +OMIM:608341 skos:exactMatch UMLS:C1824841 Unspecified CYB5R1 +OMIM:608341 skos:exactMatch HGNC:13397 Unspecified CYB5R1 +OMIM:608341 skos:exactMatch HGNC_symbol:CYB5R1 Unspecified CYB5R1 +OMIM:608340 skos:exactMatch UMLS:C1842197 Unspecified charcot-marie-tooth disease, recessive intermediate a +OMIM:608345 skos:exactMatch UMLS:C1842186 Unspecified nystagmus 3, congenital, autosomal dominant +OMIM:608344 skos:exactMatch HGNC_symbol:HSPB9 Unspecified HSPB9 +OMIM:608344 skos:exactMatch HGNC:30589 Unspecified HSPB9 +OMIM:608344 skos:exactMatch UMLS:C1537389 Unspecified HSPB9 +OMIM:608343 skos:exactMatch HGNC:20147 Unspecified CYB5R4 +OMIM:608343 skos:exactMatch UMLS:C1824844 Unspecified CYB5R4 +OMIM:608343 skos:exactMatch HGNC_symbol:CYB5R4 Unspecified CYB5R4 +OMIM:608342 skos:exactMatch UMLS:C1824842 Unspecified CYB5R2 +OMIM:608342 skos:exactMatch HGNC:24376 Unspecified CYB5R2 +OMIM:608342 skos:exactMatch HGNC_symbol:CYB5R2 Unspecified CYB5R2 +OMIM:608349 skos:exactMatch HGNC:24920 Unspecified HSH2D +OMIM:608349 skos:exactMatch UMLS:C1428427 Unspecified HSH2D +OMIM:608349 skos:exactMatch HGNC_symbol:HSH2D Unspecified HSH2D +OMIM:608348 skos:exactMatch HGNC_symbol:BCKDHA Unspecified BCKDHA +OMIM:608348 skos:exactMatch HGNC:986 Unspecified BCKDHA +OMIM:608348 skos:exactMatch UMLS:C1412759 Unspecified BCKDHA +OMIM:608347 skos:exactMatch HGNC_symbol:DCXR Unspecified DCXR +OMIM:608347 skos:exactMatch HGNC:18985 Unspecified DCXR +OMIM:608347 skos:exactMatch UMLS:C1425932 Unspecified DCXR +OMIM:608329 skos:exactMatch UMLS:C1412879 Unspecified MYRF +OMIM:608329 skos:exactMatch HGNC_symbol:MYRF Unspecified MYRF +OMIM:608329 skos:exactMatch HGNC:1181 Unspecified MYRF +OMIM:608328 skos:exactMatch UMLS:C1869115 Unspecified weill-marchesani syndrome 2 +OMIM:611979 skos:exactMatch HGNC:14504 Unspecified MRPS15 +OMIM:611979 skos:exactMatch HGNC_symbol:MRPS15 Unspecified MRPS15 +OMIM:611979 skos:exactMatch UMLS:C1422710 Unspecified MRPS15 +OMIM:161000 skos:exactMatch UMLS:C0343111 Unspecified naegeli-franceschetti-jadassohn syndrome +OMIM:611977 skos:exactMatch HGNC:14050 Unspecified MRPS11 +OMIM:611977 skos:exactMatch UMLS:C1422374 Unspecified MRPS11 +OMIM:611977 skos:exactMatch HGNC_symbol:MRPS11 Unspecified MRPS11 +OMIM:611978 skos:exactMatch HGNC:14049 Unspecified MRPS14 +OMIM:611978 skos:exactMatch UMLS:C1422373 Unspecified MRPS14 +OMIM:611978 skos:exactMatch HGNC_symbol:MRPS14 Unspecified MRPS14 +OMIM:611975 skos:exactMatch HGNC:14501 Unspecified MRPS9 +OMIM:611975 skos:exactMatch UMLS:C1422707 Unspecified MRPS9 +OMIM:611975 skos:exactMatch HGNC_symbol:MRPS9 Unspecified MRPS9 +OMIM:148050 skos:exactMatch UMLS:C0220687 Unspecified kbg syndrome +OMIM:611976 skos:exactMatch HGNC:14502 Unspecified MRPS10 +OMIM:611976 skos:exactMatch UMLS:C1422708 Unspecified MRPS10 +OMIM:611976 skos:exactMatch HGNC_symbol:MRPS10 Unspecified MRPS10 +OMIM:611973 skos:exactMatch HGNC:14051 Unspecified MRPS6 +OMIM:611973 skos:exactMatch UMLS:C1422375 Unspecified MRPS6 +OMIM:611973 skos:exactMatch HGNC_symbol:MRPS6 Unspecified MRPS6 +OMIM:611974 skos:exactMatch HGNC:14499 Unspecified MRPS7 +OMIM:611974 skos:exactMatch UMLS:C1422705 Unspecified MRPS7 +OMIM:611974 skos:exactMatch HGNC_symbol:MRPS7 Unspecified MRPS7 +OMIM:611971 skos:exactMatch HGNC:14495 Unspecified MRPS2 +OMIM:611971 skos:exactMatch UMLS:C1422701 Unspecified MRPS2 +OMIM:611971 skos:exactMatch HGNC_symbol:MRPS2 Unspecified MRPS2 +OMIM:611972 skos:exactMatch HGNC:14498 Unspecified MRPS5 +OMIM:611972 skos:exactMatch UMLS:C1422704 Unspecified MRPS5 +OMIM:611972 skos:exactMatch HGNC_symbol:MRPS5 Unspecified MRPS5 +OMIM:187650 skos:exactMatch UMLS:C1861211 Unspecified theophylline biotransformation +OMIM:611970 skos:exactMatch UMLS:C1425119 Unspecified NIFK +OMIM:611970 skos:exactMatch HGNC_symbol:NIFK Unspecified NIFK +OMIM:611970 skos:exactMatch HGNC:17838 Unspecified NIFK +OMIM:102600 skos:exactMatch HGNC_symbol:APRT Unspecified APRT +OMIM:102600 skos:exactMatch HGNC:626 Unspecified APRT +OMIM:102600 skos:exactMatch UMLS:C1366623 Unspecified APRT +OMIM:608330 skos:exactMatch HGNC:17896 Unspecified PRPF19 +OMIM:608330 skos:exactMatch HGNC_symbol:PRPF19 Unspecified PRPF19 +OMIM:608330 skos:exactMatch UMLS:C1538720 Unspecified PRPF19 +OMIM:608334 skos:exactMatch HGNC:16173 Unspecified DOK5 +OMIM:608334 skos:exactMatch HGNC_symbol:DOK5 Unspecified DOK5 +OMIM:608334 skos:exactMatch UMLS:C1424050 Unspecified DOK5 +OMIM:608333 skos:exactMatch HGNC:19868 Unspecified DOK4 +OMIM:608333 skos:exactMatch UMLS:C1426493 Unspecified DOK4 +OMIM:608333 skos:exactMatch HGNC_symbol:DOK4 Unspecified DOK4 +OMIM:608332 skos:exactMatch HGNC:19659 Unspecified SLC36A3 +OMIM:608332 skos:exactMatch UMLS:C1426309 Unspecified SLC36A3 +OMIM:608332 skos:exactMatch HGNC_symbol:SLC36A3 Unspecified SLC36A3 +OMIM:151690 skos:exactMatch UMLS:C1412417 Unspecified ANXA1 +OMIM:151690 skos:exactMatch HGNC:533 Unspecified ANXA1 +OMIM:151690 skos:exactMatch HGNC_symbol:ANXA1 Unspecified ANXA1 +OMIM:608331 skos:exactMatch HGNC:18762 Unspecified SLC36A2 +OMIM:608331 skos:exactMatch UMLS:C1425767 Unspecified SLC36A2 +OMIM:608331 skos:exactMatch HGNC_symbol:SLC36A2 Unspecified SLC36A2 +OMIM:608338 skos:exactMatch UMLS:C1538554 Unspecified OTUB2 +OMIM:608338 skos:exactMatch HGNC:20351 Unspecified OTUB2 +OMIM:608338 skos:exactMatch HGNC_symbol:OTUB2 Unspecified OTUB2 +OMIM:608337 skos:exactMatch HGNC:23077 Unspecified OTUB1 +OMIM:608337 skos:exactMatch UMLS:C1427896 Unspecified OTUB1 +OMIM:608337 skos:exactMatch HGNC_symbol:OTUB1 Unspecified OTUB1 +OMIM:305100 skos:exactMatch UMLS:C0162359 Unspecified ectodermal dysplasia 1, hypohidrotic, X-linked +OMIM:608336 skos:exactMatch HGNC_symbol:TPRA1 Unspecified TPRA1 +OMIM:608336 skos:exactMatch HGNC:30413 Unspecified TPRA1 +OMIM:608336 skos:exactMatch UMLS:C1539611 Unspecified TPRA1 +OMIM:608335 skos:exactMatch UMLS:C1826600 Unspecified PLEKHO1 +OMIM:608335 skos:exactMatch HGNC:24310 Unspecified PLEKHO1 +OMIM:608335 skos:exactMatch HGNC_symbol:PLEKHO1 Unspecified PLEKHO1 +OMIM:608318 skos:exactMatch UMLS:C1842258 Unspecified coronary heart disease, susceptibility to, 4 +OMIM:608317 skos:exactMatch HGNC:25839 Unspecified GRHL3 +OMIM:608317 skos:exactMatch UMLS:C1842259 Unspecified GRHL3 +OMIM:608317 skos:exactMatch HGNC_symbol:GRHL3 Unspecified GRHL3 +OMIM:611968 skos:exactMatch HGNC:17086 Unspecified CSTF2T +OMIM:611968 skos:exactMatch HGNC_symbol:CSTF2T Unspecified CSTF2T +OMIM:611968 skos:exactMatch UMLS:C1424733 Unspecified CSTF2T +OMIM:611969 skos:exactMatch HGNC_symbol:MOB2 Unspecified MOB2 +OMIM:611969 skos:exactMatch UMLS:C2677742 Unspecified MOB2 +OMIM:611969 skos:exactMatch HGNC:24904 Unspecified MOB2 +OMIM:611966 skos:exactMatch HGNC:30832 Unspecified TRAPPC9 +OMIM:611966 skos:exactMatch UMLS:C2677743 Unspecified TRAPPC9 +OMIM:611966 skos:exactMatch HGNC_symbol:TRAPPC9 Unspecified TRAPPC9 +OMIM:611967 skos:exactMatch HGNC_symbol:KLHL8 Unspecified KLHL8 +OMIM:611967 skos:exactMatch HGNC:18644 Unspecified KLHL8 +OMIM:611967 skos:exactMatch UMLS:C1425672 Unspecified KLHL8 +OMIM:611964 skos:exactMatch UMLS:C1824838 Unspecified CYB5B +OMIM:611964 skos:exactMatch HGNC:24374 Unspecified CYB5B +OMIM:611964 skos:exactMatch HGNC_symbol:CYB5B Unspecified CYB5B +OMIM:148060 skos:exactMatch HGNC:6446 Unspecified KRT8 +OMIM:148060 skos:exactMatch HGNC_symbol:KRT8 Unspecified KRT8 +OMIM:148060 skos:exactMatch UMLS:C1416746 Unspecified KRT8 +OMIM:611965 skos:exactMatch UMLS:C1823274 Unspecified THOC7 +OMIM:611965 skos:exactMatch HGNC:29874 Unspecified THOC7 +OMIM:611965 skos:exactMatch HGNC_symbol:THOC7 Unspecified THOC7 +OMIM:611962 skos:exactMatch UMLS:C2677745 Unspecified hunter-macdonald syndrome +OMIM:611963 skos:exactMatch UMLS:C2677744 Unspecified None +OMIM:258470 skos:exactMatch UMLS:C1850302 Unspecified ophthalmoplegic neuromuscular disorder with abnormal mitochondria +OMIM:148065 skos:exactMatch HGNC_symbol:KRT13 Unspecified KRT13 +OMIM:148065 skos:exactMatch HGNC:6415 Unspecified KRT13 +OMIM:148065 skos:exactMatch UMLS:C4014321 Unspecified KRT13 +OMIM:148065 skos:exactMatch UMLS:C1416716 Unspecified KRT13 +OMIM:611960 skos:exactMatch UMLS:C2677770 Unspecified asthma-related traits, susceptibility to, 7 +OMIM:611961 skos:exactMatch UMLS:C2677763 Unspecified stevenson-carey syndrome +OMIM:148059 skos:exactMatch UMLS:C1416745 Unspecified KRT7 +OMIM:148059 skos:exactMatch HGNC:6445 Unspecified KRT7 +OMIM:148059 skos:exactMatch HGNC_symbol:KRT7 Unspecified KRT7 +OMIM:608323 skos:exactMatch UMLS:C1842237 Unspecified charcot-marie-tooth disease, dominant intermediate c +OMIM:608322 skos:exactMatch UMLS:C1537485 Unspecified KIF21B +OMIM:608322 skos:exactMatch HGNC:29442 Unspecified KIF21B +OMIM:608322 skos:exactMatch HGNC_symbol:KIF21B Unspecified KIF21B +OMIM:608321 skos:exactMatch UMLS:C1539964 Unspecified TICAM2 +OMIM:608321 skos:exactMatch HGNC_symbol:TICAM2 Unspecified TICAM2 +OMIM:608321 skos:exactMatch HGNC:21354 Unspecified TICAM2 +OMIM:608320 skos:exactMatch UMLS:C1842247 Unspecified coronary artery disease, autosomal dominant, 1 +OMIM:608327 skos:exactMatch HGNC_symbol:STOML3 Unspecified STOML3 +OMIM:608327 skos:exactMatch HGNC:19420 Unspecified STOML3 +OMIM:608327 skos:exactMatch UMLS:C1426231 Unspecified STOML3 +OMIM:608326 skos:exactMatch HGNC_symbol:STOML1 Unspecified STOML1 +OMIM:608326 skos:exactMatch UMLS:C1422757 Unspecified STOML1 +OMIM:608326 skos:exactMatch HGNC:14560 Unspecified STOML1 +OMIM:608325 skos:exactMatch UMLS:C5231476 Unspecified PHF21A +OMIM:608325 skos:exactMatch UMLS:C5231538 Unspecified PHF21A +OMIM:608325 skos:exactMatch UMLS:C5231537 Unspecified PHF21A +OMIM:608325 skos:exactMatch UMLS:C1538635 Unspecified PHF21A +OMIM:608325 skos:exactMatch HGNC_symbol:PHF21A Unspecified PHF21A +OMIM:608325 skos:exactMatch HGNC:24156 Unspecified PHF21A +OMIM:608324 skos:exactMatch UMLS:C1842236 Unspecified SMIM3 +OMIM:608324 skos:exactMatch HGNC_symbol:SMIM3 Unspecified SMIM3 +OMIM:608324 skos:exactMatch HGNC:30248 Unspecified SMIM3 +OMIM:608309 skos:exactMatch UMLS:C1970035 Unspecified PINK1 +OMIM:608309 skos:exactMatch HGNC:14581 Unspecified PINK1 +OMIM:608309 skos:exactMatch UMLS:C1422771 Unspecified PINK1 +OMIM:608309 skos:exactMatch HGNC_symbol:PINK1 Unspecified PINK1 +OMIM:608309 skos:exactMatch UMLS:C1853833 Unspecified PINK1 +OMIM:608308 skos:exactMatch HGNC_symbol:ABTB1 Unspecified ABTB1 +OMIM:608308 skos:exactMatch UMLS:C1425413 Unspecified ABTB1 +OMIM:608308 skos:exactMatch HGNC:18275 Unspecified ABTB1 +OMIM:608307 skos:exactMatch UMLS:C1413683 Unspecified CPS1 +OMIM:608307 skos:exactMatch HGNC_symbol:CPS1 Unspecified CPS1 +OMIM:608307 skos:exactMatch HGNC:2323 Unspecified CPS1 +OMIM:611959 skos:exactMatch UMLS:C2677771 Unspecified prostate cancer, hereditary, 15 +OMIM:608306 skos:exactMatch HGNC_symbol:SP8 Unspecified SP8 +OMIM:608306 skos:exactMatch HGNC:19196 Unspecified SP8 +OMIM:608306 skos:exactMatch UMLS:C1426082 Unspecified SP8 +OMIM:611957 skos:exactMatch UMLS:C1537899 Unspecified MIRN378 +OMIM:611957 skos:exactMatch HGNC:31871 Unspecified MIRN378 +OMIM:611957 skos:exactMatch HGNC_symbol:MIR378A Unspecified MIRN378 +OMIM:611958 skos:exactMatch UMLS:C2677772 Unspecified prostate cancer, hereditary, 14 +OMIM:611955 skos:exactMatch UMLS:C2677773 Unspecified prostate cancer, hereditary, 11 +OMIM:611956 skos:exactMatch HGNC_symbol:C3orf52 Unspecified C3ORF52 +OMIM:611956 skos:exactMatch UMLS:C1824148 Unspecified C3ORF52 +OMIM:611956 skos:exactMatch HGNC:26255 Unspecified C3ORF52 +OMIM:611953 skos:exactMatch UMLS:C2677774 Unspecified macular degeneration, age-related, 11 +OMIM:611954 skos:exactMatch UMLS:C1537894 Unspecified MIR373 +OMIM:611954 skos:exactMatch HGNC_symbol:MIR373 Unspecified MIR373 +OMIM:611954 skos:exactMatch HGNC:31787 Unspecified MIR373 +OMIM:611951 skos:exactMatch HGNC_symbol:B9D2 Unspecified B9D2 +OMIM:611951 skos:exactMatch HGNC:28636 Unspecified B9D2 +OMIM:611951 skos:exactMatch UMLS:C2240202 Unspecified B9D2 +OMIM:148070 skos:exactMatch HGNC_symbol:KRT18 Unspecified KRT18 +OMIM:148070 skos:exactMatch HGNC:6430 Unspecified KRT18 +OMIM:148070 skos:exactMatch UMLS:C1416731 Unspecified KRT18 +OMIM:258480 skos:exactMatch ORPHA:2746 Unspecified opsismodysplasia +OMIM:258480 skos:exactMatch UMLS:C0432219 Unspecified opsismodysplasia +OMIM:611952 skos:exactMatch HGNC_symbol:VPS28 Unspecified VPS28 +OMIM:611952 skos:exactMatch UMLS:C1425363 Unspecified VPS28 +OMIM:611952 skos:exactMatch HGNC:18178 Unspecified VPS28 +OMIM:611950 skos:exactMatch UMLS:C1825949 Unspecified LPCAT3 +OMIM:611950 skos:exactMatch HGNC:30244 Unspecified LPCAT3 +OMIM:611950 skos:exactMatch HGNC_symbol:LPCAT3 Unspecified LPCAT3 +OMIM:148069 skos:exactMatch UMLS:C1416728 Unspecified KRT17 +OMIM:148069 skos:exactMatch HGNC_symbol:KRT17 Unspecified KRT17 +OMIM:148069 skos:exactMatch HGNC:6427 Unspecified KRT17 +OMIM:148067 skos:exactMatch UMLS:C1416724 Unspecified KRT16 +OMIM:148067 skos:exactMatch HGNC_symbol:KRT16 Unspecified KRT16 +OMIM:148067 skos:exactMatch HGNC:6423 Unspecified KRT16 +OMIM:148066 skos:exactMatch HGNC_symbol:KRT14 Unspecified KRT14 +OMIM:148066 skos:exactMatch HGNC:6416 Unspecified KRT14 +OMIM:148066 skos:exactMatch UMLS:C1416717 Unspecified KRT14 +OMIM:173000 skos:exactMatch UMLS:C0031925 Unspecified pilonidal sinus +OMIM:608312 skos:exactMatch HGNC:18027 Unspecified TWISTNB +OMIM:608312 skos:exactMatch UMLS:C1425253 Unspecified TWISTNB +OMIM:608312 skos:exactMatch HGNC_symbol:POLR1F Unspecified TWISTNB +OMIM:608311 skos:exactMatch UMLS:C1423675 Unspecified GRINL1B +OMIM:608311 skos:exactMatch HGNC_symbol:POLR2MP1 Unspecified GRINL1B +OMIM:608311 skos:exactMatch HGNC:15712 Unspecified GRINL1B +OMIM:608310 skos:exactMatch HGNC_symbol:ASL Unspecified ASL +OMIM:608310 skos:exactMatch HGNC:746 Unspecified ASL +OMIM:608310 skos:exactMatch UMLS:C1412582 Unspecified ASL +OMIM:608316 skos:exactMatch UMLS:C1842260 Unspecified coronary heart disease, susceptibility to, 2 +OMIM:608315 skos:exactMatch HGNC_symbol:EAF1 Unspecified EAF1 +OMIM:608315 skos:exactMatch UMLS:C1427195 Unspecified EAF1 +OMIM:608315 skos:exactMatch HGNC:20907 Unspecified EAF1 +OMIM:608314 skos:exactMatch UMLS:C1419967 Unspecified SEPT3 +OMIM:608314 skos:exactMatch HGNC:10750 Unspecified SEPT3 +OMIM:608314 skos:exactMatch HGNC_symbol:SEPTIN3 Unspecified SEPT3 +OMIM:608313 skos:exactMatch HGNC_symbol:ARG1 Unspecified ARG1 +OMIM:608313 skos:exactMatch HGNC:663 Unspecified ARG1 +OMIM:608313 skos:exactMatch UMLS:C1412515 Unspecified ARG1 +OMIM:187680 skos:exactMatch UMLS:C1336663 Unspecified TPMT +OMIM:187680 skos:exactMatch HGNC:12014 Unspecified TPMT +OMIM:187680 skos:exactMatch HGNC_symbol:TPMT Unspecified TPMT +OMIM:161050 skos:exactMatch ORPHA:79153 Unspecified nail disorder, nonsyndromic congenital, 1 +OMIM:161050 skos:exactMatch ORPHA:280654 Unspecified nail disorder, nonsyndromic congenital, 1 +OMIM:161050 skos:exactMatch UMLS:C0406443 Unspecified nail disorder, nonsyndromic congenital, 1 +OMIM:258450 skos:exactMatch UMLS:C4225153 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +OMIM:258450 skos:exactMatch ORPHA:254886 Unspecified progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 +OMIM:148080 skos:exactMatch HGNC_symbol:KRT10 Unspecified KRT10 +OMIM:148080 skos:exactMatch HGNC:6413 Unspecified KRT10 +OMIM:148080 skos:exactMatch UMLS:C1416714 Unspecified KRT10 +OMIM:185020 skos:exactMatch UMLS:C1861453 Unspecified cryohydrocytosis +OMIM:608381 skos:exactMatch HGNC_symbol:CERKL Unspecified CERKL +OMIM:608381 skos:exactMatch UMLS:C1538439 Unspecified CERKL +OMIM:608381 skos:exactMatch HGNC:21699 Unspecified CERKL +OMIM:608380 skos:exactMatch UMLS:C1842127 Unspecified retinitis pigmentosa 26 +OMIM:608385 skos:exactMatch HGNC_symbol:TNS4 Unspecified TNS4 +OMIM:608385 skos:exactMatch HGNC:24352 Unspecified TNS4 +OMIM:608385 skos:exactMatch UMLS:C1823462 Unspecified TNS4 +OMIM:608384 skos:exactMatch HGNC_symbol:GSDMC Unspecified GSDMC +OMIM:608384 skos:exactMatch UMLS:C1417197 Unspecified GSDMC +OMIM:608384 skos:exactMatch HGNC:7151 Unspecified GSDMC +OMIM:608383 skos:exactMatch HGNC_symbol:DPYSL5 Unspecified DPYSL5 +OMIM:608383 skos:exactMatch UMLS:C1427047 Unspecified DPYSL5 +OMIM:608383 skos:exactMatch HGNC:20637 Unspecified DPYSL5 +OMIM:608382 skos:exactMatch HGNC_symbol:DNAJA3 Unspecified DNAJA3 +OMIM:608382 skos:exactMatch HGNC:11808 Unspecified DNAJA3 +OMIM:608382 skos:exactMatch UMLS:C2986382 Unspecified DNAJA3 +OMIM:608382 skos:exactMatch UMLS:C1420733 Unspecified DNAJA3 +OMIM:608389 skos:exactMatch UMLS:C1842124 Unspecified branchiootic syndrome 3 +OMIM:608389 skos:exactMatch ORPHA:52429 Unspecified branchiootic syndrome 3 +OMIM:608388 skos:exactMatch HGNC_symbol:ECSIT Unspecified ECSIT +OMIM:608388 skos:exactMatch UMLS:C1825024 Unspecified ECSIT +OMIM:608388 skos:exactMatch HGNC:29548 Unspecified ECSIT +OMIM:246470 skos:exactMatch UMLS:C1855505 Unspecified leukemia, acute myelocytic, with polyposis coli and colon cancer +OMIM:608387 skos:exactMatch HGNC:13005 Unspecified ZNF213 +OMIM:608387 skos:exactMatch UMLS:C1421701 Unspecified ZNF213 +OMIM:608387 skos:exactMatch HGNC_symbol:ZNF213 Unspecified ZNF213 +OMIM:608386 skos:exactMatch HGNC:30828 Unspecified None +OMIM:608386 skos:exactMatch UMLS:C1842125 Unspecified None +OMIM:608386 skos:exactMatch HGNC_symbol:PTH2 Unspecified None +OMIM:175690 skos:exactMatch UMLS:C1867999 Unspecified polysyndactyly, crossed +OMIM:608370 skos:exactMatch HGNC:21088 Unspecified SCD5 +OMIM:608370 skos:exactMatch UMLS:C5436772 Unspecified SCD5 +OMIM:608370 skos:exactMatch HGNC_symbol:SCD5 Unspecified SCD5 +OMIM:608370 skos:exactMatch UMLS:C1822652 Unspecified SCD5 +OMIM:608374 skos:exactMatch HGNC:4887 Unspecified HJV +OMIM:608374 skos:exactMatch UMLS:C1415529 Unspecified HJV +OMIM:608374 skos:exactMatch HGNC_symbol:HJV Unspecified HJV +OMIM:608373 skos:exactMatch HGNC:11502 Unspecified SYNGR4 +OMIM:608373 skos:exactMatch UMLS:C1420551 Unspecified SYNGR4 +OMIM:608373 skos:exactMatch HGNC_symbol:SYNGR4 Unspecified SYNGR4 +OMIM:608372 skos:exactMatch UMLS:C1842136 Unspecified deafness, autosomal dominant 49 +OMIM:608371 skos:exactMatch UMLS:C1842143 Unspecified orofacial cleft 4 +OMIM:608378 skos:exactMatch UMLS:C1419896 Unspecified NEMF +OMIM:608378 skos:exactMatch HGNC_symbol:NEMF Unspecified NEMF +OMIM:608378 skos:exactMatch HGNC:10663 Unspecified NEMF +OMIM:608378 skos:exactMatch UMLS:C5436813 Unspecified NEMF +OMIM:608377 skos:exactMatch HGNC:15852 Unspecified ARFGAP1 +OMIM:608377 skos:exactMatch HGNC_symbol:ARFGAP1 Unspecified ARFGAP1 +OMIM:608377 skos:exactMatch UMLS:C1423774 Unspecified ARFGAP1 +OMIM:608376 skos:exactMatch HGNC_symbol:DNAJB12 Unspecified DNAJB12 +OMIM:608376 skos:exactMatch HGNC:14891 Unspecified DNAJB12 +OMIM:608376 skos:exactMatch UMLS:C1423030 Unspecified DNAJB12 +OMIM:608375 skos:exactMatch HGNC:15469 Unspecified DNAJC6 +OMIM:608375 skos:exactMatch UMLS:C1423510 Unspecified DNAJC6 +OMIM:608375 skos:exactMatch HGNC_symbol:DNAJC6 Unspecified DNAJC6 +OMIM:608379 skos:exactMatch HGNC:1612 Unspecified CCRL2 +OMIM:608379 skos:exactMatch UMLS:C1332705 Unspecified CCRL2 +OMIM:608379 skos:exactMatch HGNC_symbol:CCRL2 Unspecified CCRL2 +OMIM:271400 skos:exactMatch UMLS:C0685889 Unspecified asplenia, isolated congenital +OMIM:185000 skos:exactMatch UMLS:C1861455 Unspecified overhydrated hereditary stomatocytosis +OMIM:161070 skos:exactMatch UMLS:C1834404 Unspecified nail high-sulfur protein +OMIM:608363 skos:exactMatch UMLS:C2675369 Unspecified chromosome 22q11.2 duplication syndrome +OMIM:608362 skos:exactMatch HGNC:15926 Unspecified STMN3 +OMIM:608362 skos:exactMatch HGNC_symbol:STMN3 Unspecified STMN3 +OMIM:608362 skos:exactMatch UMLS:C1423838 Unspecified STMN3 +OMIM:608361 skos:exactMatch UMLS:C1842149 Unspecified spondyloepiphyseal dysplasia, kimberley iia +OMIM:608360 skos:exactMatch HGNC:19027 Unspecified LRRC8A +OMIM:608360 skos:exactMatch HGNC_symbol:LRRC8A Unspecified LRRC8A +OMIM:608360 skos:exactMatch UMLS:C4225518 Unspecified LRRC8A +OMIM:608360 skos:exactMatch UMLS:C1825876 Unspecified LRRC8A +OMIM:608367 skos:exactMatch UMLS:C3888211 Unspecified myopia 17, autosomal dominant +OMIM:608366 skos:exactMatch HGNC_symbol:CEMIP Unspecified CEMIP +OMIM:608366 skos:exactMatch UMLS:C1537465 Unspecified CEMIP +OMIM:608366 skos:exactMatch HGNC:29213 Unspecified CEMIP +OMIM:608365 skos:exactMatch HGNC:11657 Unspecified TCP10L +OMIM:608365 skos:exactMatch HGNC_symbol:TCP10L Unspecified TCP10L +OMIM:608365 skos:exactMatch UMLS:C1420657 Unspecified TCP10L +OMIM:608364 skos:exactMatch HGNC_symbol:LIMA1 Unspecified LIMA1 +OMIM:608364 skos:exactMatch HGNC:24636 Unspecified LIMA1 +OMIM:608364 skos:exactMatch UMLS:C1825817 Unspecified LIMA1 +OMIM:608369 skos:exactMatch HGNC:23242 Unspecified GALNT13 +OMIM:608369 skos:exactMatch HGNC_symbol:GALNT13 Unspecified GALNT13 +OMIM:608369 skos:exactMatch UMLS:C1428014 Unspecified GALNT13 +OMIM:608368 skos:exactMatch HGNC:21700 Unspecified RAD9B +OMIM:608368 skos:exactMatch HGNC_symbol:RAD9B Unspecified RAD9B +OMIM:608368 skos:exactMatch UMLS:C1427703 Unspecified RAD9B +OMIM:611999 skos:exactMatch HGNC:30267 Unspecified RAB11FIP4 +OMIM:611999 skos:exactMatch UMLS:C1538767 Unspecified RAB11FIP4 +OMIM:611999 skos:exactMatch HGNC_symbol:RAB11FIP4 Unspecified RAB11FIP4 +OMIM:246450 skos:exactMatch UMLS:C0268601 Unspecified 3-hydroxy-3-methylglutaryl-coa lyase deficiency +OMIM:611997 skos:exactMatch HGNC:14514 Unspecified MRP63 +OMIM:611997 skos:exactMatch HGNC_symbol:MRPL57 Unspecified MRP63 +OMIM:611997 skos:exactMatch UMLS:C1422719 Unspecified MRP63 +OMIM:611998 skos:exactMatch UMLS:C1425826 Unspecified CREB3L3 +OMIM:611998 skos:exactMatch HGNC_symbol:CREB3L3 Unspecified CREB3L3 +OMIM:611998 skos:exactMatch HGNC:18855 Unspecified CREB3L3 +OMIM:611995 skos:exactMatch UMLS:C1424455 Unspecified MRPS35 +OMIM:611995 skos:exactMatch HGNC_symbol:MRPS35 Unspecified MRPS35 +OMIM:611995 skos:exactMatch HGNC:16635 Unspecified MRPS35 +OMIM:611996 skos:exactMatch UMLS:C1424451 Unspecified MRPS36 +OMIM:611996 skos:exactMatch HGNC_symbol:MRPS36 Unspecified MRPS36 +OMIM:611996 skos:exactMatch HGNC:16631 Unspecified MRPS36 +OMIM:611993 skos:exactMatch UMLS:C1424454 Unspecified MRPS33 +OMIM:611993 skos:exactMatch HGNC_symbol:MRPS33 Unspecified MRPS33 +OMIM:611993 skos:exactMatch HGNC:16634 Unspecified MRPS33 +OMIM:611994 skos:exactMatch UMLS:C1424441 Unspecified MRPS34 +OMIM:611994 skos:exactMatch HGNC_symbol:MRPS34 Unspecified MRPS34 +OMIM:611994 skos:exactMatch HGNC:16618 Unspecified MRPS34 +OMIM:611991 skos:exactMatch UMLS:C1418410 Unspecified MRPS30 +OMIM:611991 skos:exactMatch HGNC_symbol:MRPS30 Unspecified MRPS30 +OMIM:611991 skos:exactMatch HGNC:8769 Unspecified MRPS30 +OMIM:611992 skos:exactMatch UMLS:C1424452 Unspecified MRPS31 +OMIM:611992 skos:exactMatch HGNC_symbol:MRPS31 Unspecified MRPS31 +OMIM:611992 skos:exactMatch HGNC:16632 Unspecified MRPS31 +OMIM:608352 skos:exactMatch HGNC_symbol:ACRBP Unspecified ACRBP +OMIM:608352 skos:exactMatch UMLS:C1332008 Unspecified ACRBP +OMIM:608352 skos:exactMatch HGNC:17195 Unspecified ACRBP +OMIM:608351 skos:exactMatch HGNC_symbol:IGSF11 Unspecified IGSF11 +OMIM:608351 skos:exactMatch HGNC:16669 Unspecified IGSF11 +OMIM:608351 skos:exactMatch UMLS:C1424478 Unspecified IGSF11 +OMIM:608350 skos:exactMatch HGNC_symbol:EMCN Unspecified EMCN +OMIM:608350 skos:exactMatch UMLS:C1825049 Unspecified EMCN +OMIM:608350 skos:exactMatch HGNC:16041 Unspecified EMCN +OMIM:608356 skos:exactMatch UMLS:C1426520 Unspecified ODF3 +OMIM:608356 skos:exactMatch HGNC_symbol:ODF3 Unspecified ODF3 +OMIM:608356 skos:exactMatch HGNC:19905 Unspecified ODF3 +OMIM:608354 skos:exactMatch UMLS:C4747394 Unspecified capillary malformation-arteriovenous malformation 1 +OMIM:608354 skos:exactMatch UMLS:C1842180 Unspecified capillary malformation-arteriovenous malformation 1 +OMIM:608353 skos:exactMatch HGNC_symbol:AZIN2 Unspecified AZIN2 +OMIM:608353 skos:exactMatch HGNC:29957 Unspecified AZIN2 +OMIM:608353 skos:exactMatch UMLS:C1826409 Unspecified AZIN2 +OMIM:608359 skos:exactMatch HGNC:14903 Unspecified SULT4A1 +OMIM:608359 skos:exactMatch UMLS:C1423041 Unspecified SULT4A1 +OMIM:608359 skos:exactMatch HGNC_symbol:SULT4A1 Unspecified SULT4A1 +OMIM:608358 skos:exactMatch UMLS:C1842160 Unspecified myopathy, myosin storage, autosomal dominant +OMIM:608357 skos:exactMatch UMLS:C1420518 Unspecified SULT1C4 +OMIM:608357 skos:exactMatch HGNC:11457 Unspecified SULT1C4 +OMIM:608357 skos:exactMatch HGNC_symbol:SULT1C4 Unspecified SULT1C4 +OMIM:258400 skos:exactMatch UMLS:C1850314 Unspecified ophthalmoplegia totalis with ptosis and miosis +OMIM:222448 skos:exactMatch UMLS:C1857277 Unspecified donnai-barrow syndrome +OMIM:608293 skos:exactMatch HGNC:18239 Unspecified ARHGAP17 +OMIM:608293 skos:exactMatch UMLS:C1538924 Unspecified ARHGAP17 +OMIM:608293 skos:exactMatch HGNC_symbol:ARHGAP17 Unspecified ARHGAP17 +OMIM:608292 skos:exactMatch HGNC:14559 Unspecified STOML2 +OMIM:608292 skos:exactMatch HGNC_symbol:STOML2 Unspecified STOML2 +OMIM:608292 skos:exactMatch UMLS:C1422756 Unspecified STOML2 +OMIM:608291 skos:exactMatch HGNC:21586 Unspecified TTL +OMIM:608291 skos:exactMatch UMLS:C1427631 Unspecified TTL +OMIM:608291 skos:exactMatch HGNC_symbol:TTL Unspecified TTL +OMIM:608290 skos:exactMatch UMLS:C1842307 Unspecified lelis syndrome +OMIM:608296 skos:exactMatch HGNC_symbol:FIBP Unspecified FIBP +OMIM:608296 skos:exactMatch HGNC:3705 Unspecified FIBP +OMIM:608296 skos:exactMatch UMLS:C1333548 Unspecified FIBP +OMIM:608295 skos:exactMatch UMLS:C1842306 Unspecified FAM107A +OMIM:608295 skos:exactMatch HGNC_symbol:FAM107A Unspecified FAM107A +OMIM:608295 skos:exactMatch HGNC:30827 Unspecified FAM107A +OMIM:608294 skos:exactMatch UMLS:C1427006 Unspecified NME6 +OMIM:608294 skos:exactMatch HGNC_symbol:NME6 Unspecified NME6 +OMIM:608294 skos:exactMatch HGNC:20567 Unspecified NME6 +OMIM:608299 skos:exactMatch HGNC_symbol:RNF34 Unspecified RNF34 +OMIM:608299 skos:exactMatch HGNC:17297 Unspecified RNF34 +OMIM:608299 skos:exactMatch UMLS:C1424884 Unspecified RNF34 +OMIM:608298 skos:exactMatch UMLS:C1824605 Unspecified CCDS80 +OMIM:608298 skos:exactMatch HGNC_symbol:CCDC80 Unspecified CCDS80 +OMIM:608298 skos:exactMatch HGNC:30649 Unspecified CCDS80 +OMIM:246400 skos:exactMatch UMLS:C0023381 Unspecified letterer-siwe disease +OMIM:222470 skos:exactMatch UMLS:C4551982 Unspecified trichohepatoenteric syndrome 1 +OMIM:608282 skos:exactMatch HGNC_symbol:TAAR9 Unspecified TAAR9 +OMIM:608282 skos:exactMatch UMLS:C1539916 Unspecified TAAR9 +OMIM:608282 skos:exactMatch HGNC:20977 Unspecified TAAR9 +OMIM:608281 skos:exactMatch UMLS:C1842315 Unspecified scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities +OMIM:608280 skos:exactMatch HGNC:16355 Unspecified GAS5 +OMIM:608280 skos:exactMatch UMLS:C1424213 Unspecified GAS5 +OMIM:608280 skos:exactMatch HGNC_symbol:GAS5 Unspecified GAS5 +OMIM:608286 skos:exactMatch UMLS:C1421975 Unspecified PCDH10 +OMIM:608286 skos:exactMatch HGNC:13404 Unspecified PCDH10 +OMIM:608286 skos:exactMatch HGNC_symbol:PCDH10 Unspecified PCDH10 +OMIM:608285 skos:exactMatch UMLS:C1826343 Unspecified NADSYN1 +OMIM:608285 skos:exactMatch HGNC:29832 Unspecified NADSYN1 +OMIM:608285 skos:exactMatch HGNC_symbol:NADSYN1 Unspecified NADSYN1 +OMIM:608285 skos:exactMatch UMLS:C5394250 Unspecified NADSYN1 +OMIM:608284 skos:exactMatch UMLS:C1842308 Unspecified None +OMIM:608284 skos:exactMatch HGNC_symbol:SPPL2C Unspecified None +OMIM:608284 skos:exactMatch HGNC:28902 Unspecified None +OMIM:608283 skos:exactMatch HGNC:19349 Unspecified KIF21A +OMIM:608283 skos:exactMatch UMLS:C1426181 Unspecified KIF21A +OMIM:608283 skos:exactMatch HGNC_symbol:KIF21A Unspecified KIF21A +OMIM:608289 skos:exactMatch UMLS:C1825577 Unspecified IGF2BP2 +OMIM:608289 skos:exactMatch UMLS:C3837967 Unspecified IGF2BP2 +OMIM:608289 skos:exactMatch HGNC_symbol:IGF2BP2 Unspecified IGF2BP2 +OMIM:608289 skos:exactMatch HGNC:28867 Unspecified IGF2BP2 +OMIM:608288 skos:exactMatch UMLS:C1825576 Unspecified IGF2BP1 +OMIM:608288 skos:exactMatch HGNC:28866 Unspecified IGF2BP1 +OMIM:608288 skos:exactMatch HGNC_symbol:IGF2BP1 Unspecified IGF2BP1 +OMIM:608287 skos:exactMatch UMLS:C1422528 Unspecified PCDH18 +OMIM:608287 skos:exactMatch HGNC:14268 Unspecified PCDH18 +OMIM:608287 skos:exactMatch HGNC_symbol:PCDH18 Unspecified PCDH18 +OMIM:608271 skos:exactMatch HGNC_symbol:MACF1 Unspecified MACF1 +OMIM:608271 skos:exactMatch UMLS:C1422134 Unspecified MACF1 +OMIM:608271 skos:exactMatch UMLS:C5193029 Unspecified MACF1 +OMIM:608271 skos:exactMatch HGNC:13664 Unspecified MACF1 +OMIM:608270 skos:exactMatch UMLS:C5436458 Unspecified TASP1 +OMIM:608270 skos:exactMatch UMLS:C2986382 Unspecified TASP1 +OMIM:608270 skos:exactMatch UMLS:C1823228 Unspecified TASP1 +OMIM:608270 skos:exactMatch HGNC_symbol:TASP1 Unspecified TASP1 +OMIM:608270 skos:exactMatch HGNC:15859 Unspecified TASP1 +OMIM:608275 skos:exactMatch HGNC_symbol:SLC22A15 Unspecified SLC22A15 +OMIM:608275 skos:exactMatch HGNC:20301 Unspecified SLC22A15 +OMIM:608275 skos:exactMatch UMLS:C1426842 Unspecified SLC22A15 +OMIM:608274 skos:exactMatch HGNC_symbol:PRMT6 Unspecified PRMT6 +OMIM:608274 skos:exactMatch HGNC:18241 Unspecified PRMT6 +OMIM:608274 skos:exactMatch UMLS:C1826701 Unspecified PRMT6 +OMIM:608273 skos:exactMatch HGNC_symbol:IL27 Unspecified IL27 +OMIM:608273 skos:exactMatch HGNC:19157 Unspecified IL27 +OMIM:608273 skos:exactMatch UMLS:C1426048 Unspecified IL27 +OMIM:608272 skos:exactMatch UMLS:C1417680 Unspecified NEU1 +OMIM:608272 skos:exactMatch HGNC_symbol:NEU1 Unspecified NEU1 +OMIM:608272 skos:exactMatch HGNC:7758 Unspecified NEU1 +OMIM:608279 skos:exactMatch UMLS:C1842316 Unspecified craniosynostosis with ocular abnormalities and hallucal defects +OMIM:608278 skos:exactMatch UMLS:C1842321 Unspecified growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy +OMIM:608277 skos:exactMatch HGNC_symbol:CHST15 Unspecified CHST15 +OMIM:608277 skos:exactMatch HGNC:18137 Unspecified CHST15 +OMIM:608277 skos:exactMatch UMLS:C1842325 Unspecified CHST15 +OMIM:608276 skos:exactMatch HGNC_symbol:SLC22A16 Unspecified SLC22A16 +OMIM:608276 skos:exactMatch HGNC:20302 Unspecified SLC22A16 +OMIM:608276 skos:exactMatch UMLS:C1426843 Unspecified SLC22A16 +OMIM:307830 skos:exactMatch UMLS:C1843972 Unspecified hypouricemia, familial renal, due to tubular hypersecretion +OMIM:222400 skos:exactMatch UMLS:C1857284 Unspecified diaphragmatic hernia 2 +OMIM:124097 skos:exactMatch HGNC_symbol:DBP Unspecified DBP +OMIM:124097 skos:exactMatch UMLS:C1413924 Unspecified DBP +OMIM:124097 skos:exactMatch HGNC:2697 Unspecified DBP +OMIM:307800 skos:exactMatch UMLS:C0733682 Unspecified hypophosphatemic rickets, X-linked dominant +OMIM:124095 skos:exactMatch UMLS:C1332794 Unspecified CSK +OMIM:124095 skos:exactMatch HGNC:2444 Unspecified CSK +OMIM:124095 skos:exactMatch HGNC_symbol:CSK Unspecified CSK +OMIM:124090 skos:exactMatch HGNC_symbol:COX6C Unspecified COX6C +OMIM:124090 skos:exactMatch UMLS:C1332776 Unspecified COX6C +OMIM:124090 skos:exactMatch HGNC:2285 Unspecified COX6C +OMIM:124090 skos:exactMatch UMLS:C1852321 Unspecified COX6C +OMIM:124092 skos:exactMatch UMLS:C1334098 Unspecified IL10 +OMIM:124092 skos:exactMatch HGNC_symbol:IL10 Unspecified IL10 +OMIM:124092 skos:exactMatch HGNC:5962 Unspecified IL10 +OMIM:124089 skos:exactMatch HGNC:2280 Unspecified COX6B1 +OMIM:124089 skos:exactMatch HGNC_symbol:COX6B1 Unspecified COX6B1 +OMIM:124089 skos:exactMatch UMLS:C1539128 Unspecified COX6B1 +OMIM:124089 skos:exactMatch UMLS:C5436685 Unspecified COX6B1 +OMIM:124080 skos:exactMatch UMLS:C1413857 Unspecified CYP11B2 +OMIM:124080 skos:exactMatch HGNC_symbol:CYP11B2 Unspecified CYP11B2 +OMIM:124080 skos:exactMatch HGNC:2592 Unspecified CYP11B2 +OMIM:124080 skos:exactMatch UMLS:C1852324 Unspecified CYP11B2 +OMIM:124075 skos:exactMatch HGNC:2644 Unspecified CYP4B1 +OMIM:124075 skos:exactMatch HGNC_symbol:CYP4B1 Unspecified CYP4B1 +OMIM:124075 skos:exactMatch UMLS:C1413887 Unspecified CYP4B1 +OMIM:124070 skos:exactMatch HGNC:2632 Unspecified CYP2F1 +OMIM:124070 skos:exactMatch HGNC_symbol:CYP2F1 Unspecified CYP2F1 +OMIM:124070 skos:exactMatch UMLS:C1413878 Unspecified CYP2F1 +OMIM:124060 skos:exactMatch HGNC:2596 Unspecified CYP1A2 +OMIM:124060 skos:exactMatch HGNC_symbol:CYP1A2 Unspecified CYP1A2 +OMIM:124060 skos:exactMatch UMLS:C1852337 Unspecified CYP1A2 +OMIM:124060 skos:exactMatch UMLS:C1852336 Unspecified CYP1A2 +OMIM:124060 skos:exactMatch UMLS:C1332826 Unspecified CYP1A2 +OMIM:124050 skos:exactMatch HGNC_symbol:DAO Unspecified DAO +OMIM:124050 skos:exactMatch HGNC:2671 Unspecified DAO +OMIM:124050 skos:exactMatch UMLS:C1413903 Unspecified DAO +OMIM:210400 skos:exactMatch UMLS:C3887497 Unspecified bifid nose, autosomal recessive +OMIM:124040 skos:exactMatch HGNC:2631 Unspecified CYP2E1 +OMIM:124040 skos:exactMatch HGNC_symbol:CYP2E1 Unspecified CYP2E1 +OMIM:124040 skos:exactMatch UMLS:C0919426 Unspecified CYP2E1 +OMIM:124030 skos:exactMatch UMLS:C1332830 Unspecified CYP2D6 +OMIM:124030 skos:exactMatch HGNC:2625 Unspecified CYP2D6 +OMIM:124030 skos:exactMatch HGNC_symbol:CYP2D6 Unspecified CYP2D6 +OMIM:124020 skos:exactMatch UMLS:C1332828 Unspecified CYP2C19 +OMIM:124020 skos:exactMatch HGNC_symbol:CYP2C19 Unspecified CYP2C19 +OMIM:124020 skos:exactMatch HGNC:2621 Unspecified CYP2C19 +OMIM:112050 skos:exactMatch UMLS:C1862190 Unspecified blood group--wright antigen +OMIM:138600 skos:exactMatch HGNC_symbol:ORM1 Unspecified ORM1 +OMIM:138600 skos:exactMatch HGNC:8498 Unspecified ORM1 +OMIM:138600 skos:exactMatch UMLS:C1418186 Unspecified ORM1 +OMIM:100070 skos:exactMatch UMLS:C0162871 Unspecified aortic aneurysm, familial abdominal, 1 +OMIM:100070 skos:exactMatch UMLS:C1853365 Unspecified aortic aneurysm, familial abdominal, 1 +OMIM:124015 skos:exactMatch UMLS:C1335232 Unspecified POR +OMIM:124015 skos:exactMatch HGNC_symbol:POR Unspecified POR +OMIM:124015 skos:exactMatch HGNC:9208 Unspecified POR +OMIM:124010 skos:exactMatch UMLS:C4017437 Unspecified CYP3A4 +OMIM:124010 skos:exactMatch UMLS:C4016007 Unspecified CYP3A4 +OMIM:124010 skos:exactMatch UMLS:C1176140 Unspecified CYP3A4 +OMIM:124010 skos:exactMatch UMLS:C5436733 Unspecified CYP3A4 +OMIM:124010 skos:exactMatch HGNC:2637 Unspecified CYP3A4 +OMIM:124010 skos:exactMatch HGNC_symbol:CYP3A4 Unspecified CYP3A4 +OMIM:138610 skos:exactMatch HGNC_symbol:ORM2 Unspecified ORM2 +OMIM:138610 skos:exactMatch HGNC:8499 Unspecified ORM2 +OMIM:138610 skos:exactMatch UMLS:C1418187 Unspecified ORM2 +OMIM:102699 skos:exactMatch HGNC:22 Unspecified adeno-associated virus integration site 1 +OMIM:102699 skos:exactMatch HGNC_symbol:AAVS1 Unspecified adeno-associated virus integration site 1 +OMIM:102699 skos:exactMatch UMLS:C3887914 Unspecified adeno-associated virus integration site 1 +OMIM:126660 skos:exactMatch UMLS:C1413922 Unspecified DBN1 +OMIM:126660 skos:exactMatch HGNC_symbol:DBN1 Unspecified DBN1 +OMIM:126660 skos:exactMatch HGNC:2695 Unspecified DBN1 +OMIM:124000 skos:exactMatch ORPHA:1460 Unspecified mitochondrial complex 3 deficiency, nuclear iia 1 +OMIM:124000 skos:exactMatch ORPHA:254902 Unspecified mitochondrial complex 3 deficiency, nuclear iia 1 +OMIM:124000 skos:exactMatch UMLS:C3541471 Unspecified mitochondrial complex 3 deficiency, nuclear iia 1 +OMIM:112010 skos:exactMatch UMLS:C1862191 Unspecified blood group--waldner iia +OMIM:100050 skos:exactMatch UMLS:C3149220 Unspecified aarskog syndrome, autosomal dominant +OMIM:126650 skos:exactMatch UMLS:C1335836 Unspecified SLC26A3 +OMIM:126650 skos:exactMatch UMLS:C0267662 Unspecified SLC26A3 +OMIM:126650 skos:exactMatch HGNC:3018 Unspecified SLC26A3 +OMIM:126650 skos:exactMatch HGNC_symbol:SLC26A3 Unspecified SLC26A3 +OMIM:114300 skos:exactMatch ORPHA:376 Unspecified arthrogryposis, distal, iia 3 +OMIM:114300 skos:exactMatch UMLS:C0220666 Unspecified arthrogryposis, distal, iia 3 +OMIM:116960 skos:exactMatch UMLS:C1423721 Unspecified MORF4 +OMIM:116960 skos:exactMatch HGNC:15773 Unspecified MORF4 +OMIM:116960 skos:exactMatch HGNC_symbol:MORF4 Unspecified MORF4 +OMIM:116955 skos:exactMatch HGNC_symbol:CNBP Unspecified CNBP +OMIM:116955 skos:exactMatch HGNC:13164 Unspecified CNBP +OMIM:116955 skos:exactMatch UMLS:C1824763 Unspecified CNBP +OMIM:116957 skos:exactMatch HGNC_symbol:RBL1 Unspecified RBL1 +OMIM:116957 skos:exactMatch HGNC:9893 Unspecified RBL1 +OMIM:116957 skos:exactMatch UMLS:C1419295 Unspecified RBL1 +OMIM:116950 skos:exactMatch UMLS:C1861765 Unspecified temperature-sensitive af8 complement +OMIM:116951 skos:exactMatch HGNC:1730 Unspecified CDK11A +OMIM:116951 skos:exactMatch UMLS:C1413261 Unspecified CDK11A +OMIM:116951 skos:exactMatch HGNC_symbol:CDK11A Unspecified CDK11A +OMIM:116952 skos:exactMatch UMLS:C4225222 Unspecified CDC42 +OMIM:116952 skos:exactMatch UMLS:C1366537 Unspecified CDC42 +OMIM:116952 skos:exactMatch HGNC:1736 Unspecified CDC42 +OMIM:116952 skos:exactMatch HGNC_symbol:CDC42 Unspecified CDC42 +OMIM:116953 skos:exactMatch UMLS:C1332733 Unspecified CDK2 +OMIM:116953 skos:exactMatch HGNC_symbol:CDK2 Unspecified CDK2 +OMIM:116953 skos:exactMatch HGNC:1771 Unspecified CDK2 +OMIM:116945 skos:exactMatch UMLS:C1334489 Unspecified MCM2 +OMIM:116945 skos:exactMatch UMLS:C4310775 Unspecified MCM2 +OMIM:116945 skos:exactMatch HGNC:6944 Unspecified MCM2 +OMIM:116945 skos:exactMatch HGNC_symbol:MCM2 Unspecified MCM2 +OMIM:116946 skos:exactMatch HGNC:1728 Unspecified CDC27 +OMIM:116946 skos:exactMatch UMLS:C1413260 Unspecified CDC27 +OMIM:116946 skos:exactMatch HGNC_symbol:CDC27 Unspecified CDC27 +OMIM:116947 skos:exactMatch HGNC:1725 Unspecified CDC25A +OMIM:116947 skos:exactMatch HGNC_symbol:CDC25A Unspecified CDC25A +OMIM:116947 skos:exactMatch UMLS:C1332719 Unspecified CDC25A +OMIM:116948 skos:exactMatch HGNC:1734 Unspecified CDC34 +OMIM:116948 skos:exactMatch HGNC_symbol:CDC34 Unspecified CDC34 +OMIM:116948 skos:exactMatch UMLS:C1413263 Unspecified CDC34 +OMIM:116949 skos:exactMatch HGNC:1726 Unspecified CDC25B +OMIM:116949 skos:exactMatch UMLS:C1413258 Unspecified CDC25B +OMIM:116949 skos:exactMatch HGNC_symbol:CDC25B Unspecified CDC25B +OMIM:598500 skos:exactMatch UMLS:C1838782 Unspecified wolfram syndrome, mitochondrial form +OMIM:116940 skos:exactMatch UMLS:C1332721 Unspecified CDK1 +OMIM:116940 skos:exactMatch HGNC_symbol:CDK1 Unspecified CDK1 +OMIM:116940 skos:exactMatch HGNC:1722 Unspecified CDK1 +OMIM:138300 skos:exactMatch HGNC:4623 Unspecified GSR +OMIM:138300 skos:exactMatch UMLS:C1415326 Unspecified GSR +OMIM:138300 skos:exactMatch UMLS:C1841904 Unspecified GSR +OMIM:138300 skos:exactMatch HGNC_symbol:GSR Unspecified GSR +OMIM:271150 skos:exactMatch UMLS:C1838230 Unspecified spinal muscular atrophy, iia 4 +OMIM:116930 skos:exactMatch HGNC:7656 Unspecified NCAM1 +OMIM:116930 skos:exactMatch UMLS:C1334863 Unspecified NCAM1 +OMIM:116930 skos:exactMatch HGNC_symbol:NCAM1 Unspecified NCAM1 +OMIM:102300 skos:exactMatch UMLS:C1876177 Unspecified restless legs syndrome, susceptibility to, 1 +OMIM:608419 skos:exactMatch HGNC:16732 Unspecified MCEE +OMIM:608419 skos:exactMatch UMLS:C1424510 Unspecified MCEE +OMIM:608419 skos:exactMatch HGNC_symbol:MCEE Unspecified MCEE +OMIM:189901 skos:exactMatch HGNC:1317 Unspecified TCF9 +OMIM:189901 skos:exactMatch UMLS:C1412994 Unspecified TCF9 +OMIM:189901 skos:exactMatch HGNC_symbol:GCFC2 Unspecified TCF9 +OMIM:608418 skos:exactMatch HGNC:16511 Unspecified SEPT8 +OMIM:608418 skos:exactMatch UMLS:C1424343 Unspecified SEPT8 +OMIM:608418 skos:exactMatch HGNC_symbol:SEPTIN8 Unspecified SEPT8 +OMIM:608417 skos:exactMatch HGNC:14366 Unspecified MMP28 +OMIM:608417 skos:exactMatch HGNC_symbol:MMP28 Unspecified MMP28 +OMIM:608417 skos:exactMatch UMLS:C1422595 Unspecified MMP28 +OMIM:189902 skos:exactMatch HGNC_symbol:TFDP1 Unspecified TFDP1 +OMIM:189902 skos:exactMatch HGNC:11749 Unspecified TFDP1 +OMIM:189902 skos:exactMatch UMLS:C1384538 Unspecified TFDP1 +OMIM:608416 skos:exactMatch HGNC:14357 Unspecified MMP21 +OMIM:608416 skos:exactMatch HGNC_symbol:MMP21 Unspecified MMP21 +OMIM:608416 skos:exactMatch UMLS:C1422589 Unspecified MMP21 +OMIM:189903 skos:exactMatch HGNC:7804 Unspecified NFYA +OMIM:189903 skos:exactMatch HGNC_symbol:NFYA Unspecified NFYA +OMIM:189903 skos:exactMatch UMLS:C1417715 Unspecified NFYA +OMIM:116920 skos:exactMatch ORPHA:99842 Unspecified leukocyte adhesion deficiency, iia 1 +OMIM:116920 skos:exactMatch ORPHA:2968 Unspecified leukocyte adhesion deficiency, iia 1 +OMIM:116920 skos:exactMatch UMLS:C0398738 Unspecified leukocyte adhesion deficiency, iia 1 +OMIM:138319 skos:exactMatch HGNC:4554 Unspecified GPX2 +OMIM:138319 skos:exactMatch UMLS:C1415276 Unspecified GPX2 +OMIM:138319 skos:exactMatch HGNC_symbol:GPX2 Unspecified GPX2 +OMIM:128900 skos:exactMatch UMLS:C1851898 Unspecified earlobe attachment, attached 5s unattached +OMIM:189908 skos:exactMatch UMLS:C1420642 Unspecified TCF7 +OMIM:189908 skos:exactMatch HGNC_symbol:TCF7 Unspecified TCF7 +OMIM:189908 skos:exactMatch HGNC:11639 Unspecified TCF7 +OMIM:608422 skos:exactMatch HGNC_symbol:PANX3 Unspecified PANX3 +OMIM:608422 skos:exactMatch UMLS:C1427010 Unspecified PANX3 +OMIM:608422 skos:exactMatch HGNC:20573 Unspecified PANX3 +OMIM:608421 skos:exactMatch UMLS:C1418265 Unspecified PANX2 +OMIM:608421 skos:exactMatch HGNC_symbol:PANX2 Unspecified PANX2 +OMIM:608421 skos:exactMatch HGNC:8600 Unspecified PANX2 +OMIM:189909 skos:exactMatch UMLS:C1420645 Unspecified ZEB1 +OMIM:189909 skos:exactMatch HGNC_symbol:ZEB1 Unspecified ZEB1 +OMIM:189909 skos:exactMatch HGNC:11642 Unspecified ZEB1 +OMIM:608420 skos:exactMatch UMLS:C1418264 Unspecified PANX1 +OMIM:608420 skos:exactMatch HGNC_symbol:PANX1 Unspecified PANX1 +OMIM:608420 skos:exactMatch HGNC:8599 Unspecified PANX1 +OMIM:550500 skos:exactMatch UMLS:C1838877 Unspecified myoglobinuria, recurrent +OMIM:608426 skos:exactMatch HGNC:7113 Unspecified MKRN2 +OMIM:608426 skos:exactMatch UMLS:C1417178 Unspecified MKRN2 +OMIM:608426 skos:exactMatch HGNC_symbol:MKRN2 Unspecified MKRN2 +OMIM:189904 skos:exactMatch HGNC:7805 Unspecified NFYB +OMIM:189904 skos:exactMatch HGNC_symbol:NFYB Unspecified NFYB +OMIM:189904 skos:exactMatch UMLS:C1417716 Unspecified NFYB +OMIM:189905 skos:exactMatch UMLS:C1420652 Unspecified TCN1 +OMIM:189905 skos:exactMatch HGNC_symbol:TCN1 Unspecified TCN1 +OMIM:189905 skos:exactMatch HGNC:11652 Unspecified TCN1 +OMIM:608425 skos:exactMatch UMLS:C1539522 Unspecified None +OMIM:608425 skos:exactMatch HGNC:24822 Unspecified None +OMIM:608425 skos:exactMatch HGNC_symbol:FN3K Unspecified None +OMIM:608424 skos:exactMatch UMLS:C1424559 Unspecified MUC17 +OMIM:608424 skos:exactMatch HGNC:16800 Unspecified MUC17 +OMIM:608424 skos:exactMatch HGNC_symbol:MUC17 Unspecified MUC17 +OMIM:189906 skos:exactMatch UMLS:C1335858 Unspecified SP1 +OMIM:189906 skos:exactMatch HGNC_symbol:SP1 Unspecified SP1 +OMIM:189906 skos:exactMatch HGNC:11205 Unspecified SP1 +OMIM:189907 skos:exactMatch UMLS:C1420636 Unspecified HNF1B +OMIM:189907 skos:exactMatch HGNC_symbol:HNF1B Unspecified HNF1B +OMIM:189907 skos:exactMatch HGNC:11630 Unspecified HNF1B +OMIM:608423 skos:exactMatch UMLS:C1842062 Unspecified muscular dystrophy, limb-girdle, autosomal dominant 2 +OMIM:608423 skos:exactMatch ORPHA:55595 Unspecified muscular dystrophy, limb-girdle, autosomal dominant 2 +OMIM:608408 skos:exactMatch UMLS:C1426084 Unspecified DPPA3 +OMIM:608408 skos:exactMatch HGNC_symbol:DPPA3 Unspecified DPPA3 +OMIM:608408 skos:exactMatch HGNC:19199 Unspecified DPPA3 +OMIM:190900 skos:exactMatch UMLS:C0155017 Unspecified tritanopia +OMIM:189911 skos:exactMatch HGNC:38580 Unspecified TRG-CCC1-1 +OMIM:189911 skos:exactMatch UMLS:C3891582 Unspecified TRG-CCC1-1 +OMIM:189911 skos:exactMatch HGNC_symbol:TRG-CCC1-1 Unspecified TRG-CCC1-1 +OMIM:189912 skos:exactMatch HGNC:12332 Unspecified TRP-TGG3-1 +OMIM:189912 skos:exactMatch UMLS:C1421167 Unspecified TRP-TGG3-1 +OMIM:189912 skos:exactMatch HGNC_symbol:TRP-TGG3-1 Unspecified TRP-TGG3-1 +OMIM:608407 skos:exactMatch UMLS:C1414147 Unspecified DPYSL4 +OMIM:608407 skos:exactMatch HGNC_symbol:DPYSL4 Unspecified DPYSL4 +OMIM:608407 skos:exactMatch HGNC:3016 Unspecified DPYSL4 +OMIM:189913 skos:exactMatch HGNC_symbol:TRT-TGT6-1 Unspecified TRT-TGT6-1 +OMIM:189913 skos:exactMatch HGNC:12350 Unspecified TRT-TGT6-1 +OMIM:189913 skos:exactMatch UMLS:C1421184 Unspecified TRT-TGT6-1 +OMIM:608406 skos:exactMatch UMLS:C1842082 Unspecified vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency +OMIM:608405 skos:exactMatch HGNC_symbol:ACCS Unspecified ACCS +OMIM:608405 skos:exactMatch UMLS:C1842089 Unspecified ACCS +OMIM:608405 skos:exactMatch HGNC:23989 Unspecified ACCS +OMIM:138321 skos:exactMatch HGNC_symbol:GPX3 Unspecified GPX3 +OMIM:138321 skos:exactMatch UMLS:C1415277 Unspecified GPX3 +OMIM:138321 skos:exactMatch HGNC:4555 Unspecified GPX3 +OMIM:138320 skos:exactMatch UMLS:C1415275 Unspecified GPX1 +OMIM:138320 skos:exactMatch HGNC_symbol:GPX1 Unspecified GPX1 +OMIM:138320 skos:exactMatch HGNC:4553 Unspecified GPX1 +OMIM:189910 skos:exactMatch UMLS:C1424161 Unspecified TRS-AGA2-3 +OMIM:189910 skos:exactMatch HGNC_symbol:TRS-AGA2-3 Unspecified TRS-AGA2-3 +OMIM:189910 skos:exactMatch HGNC:16293 Unspecified TRS-AGA2-3 +OMIM:138322 skos:exactMatch UMLS:C1415278 Unspecified GPX4 +OMIM:138322 skos:exactMatch HGNC_symbol:GPX4 Unspecified GPX4 +OMIM:138322 skos:exactMatch HGNC:4556 Unspecified GPX4 +OMIM:608409 skos:exactMatch UMLS:C1824410 Unspecified C15ORF48 +OMIM:608409 skos:exactMatch HGNC:29898 Unspecified C15ORF48 +OMIM:608409 skos:exactMatch HGNC_symbol:C15orf48 Unspecified C15ORF48 +OMIM:177900 skos:exactMatch UMLS:C1867449 Unspecified psoriasis 1, susceptibility to +OMIM:189919 skos:exactMatch HGNC_symbol:TRQ-CTG1-5 Unspecified TRQ-CTG1-5 +OMIM:189919 skos:exactMatch HGNC:12341 Unspecified TRQ-CTG1-5 +OMIM:189919 skos:exactMatch UMLS:C1421176 Unspecified TRQ-CTG1-5 +OMIM:608411 skos:exactMatch HGNC:19733 Unspecified XPO6 +OMIM:608411 skos:exactMatch HGNC_symbol:XPO6 Unspecified XPO6 +OMIM:608411 skos:exactMatch UMLS:C1426370 Unspecified XPO6 +OMIM:608410 skos:exactMatch UMLS:C2675358 Unspecified body mass index quantitative trait locus 7 +OMIM:138330 skos:exactMatch HGNC:7061 Unspecified MGST1 +OMIM:138330 skos:exactMatch HGNC_symbol:MGST1 Unspecified MGST1 +OMIM:138330 skos:exactMatch UMLS:C1417145 Unspecified MGST1 +OMIM:608415 skos:exactMatch UMLS:C1842073 Unspecified prolonged electroretinal response suppression +OMIM:608414 skos:exactMatch HGNC_symbol:PLCE1 Unspecified PLCE1 +OMIM:608414 skos:exactMatch UMLS:C1424797 Unspecified PLCE1 +OMIM:608414 skos:exactMatch HGNC:17175 Unspecified PLCE1 +OMIM:608413 skos:exactMatch UMLS:C1825027 Unspecified UBR5 +OMIM:608413 skos:exactMatch HGNC_symbol:UBR5 Unspecified UBR5 +OMIM:608413 skos:exactMatch HGNC:16806 Unspecified UBR5 +OMIM:608412 skos:exactMatch UMLS:C1825395 Unspecified GPBP1 +OMIM:608412 skos:exactMatch HGNC_symbol:GPBP1 Unspecified GPBP1 +OMIM:608412 skos:exactMatch HGNC:29520 Unspecified GPBP1 +OMIM:189918 skos:exactMatch HGNC:12314 Unspecified TRK-TTT3-5 +OMIM:189918 skos:exactMatch UMLS:C1421153 Unspecified TRK-TTT3-5 +OMIM:189918 skos:exactMatch HGNC_symbol:TRK-TTT3-5 Unspecified TRK-TTT3-5 +OMIM:116900 skos:exactMatch HGNC_symbol:CKS1B Unspecified CKS1B +OMIM:116900 skos:exactMatch UMLS:C1425999 Unspecified CKS1B +OMIM:116900 skos:exactMatch HGNC:19083 Unspecified CKS1B +OMIM:116901 skos:exactMatch HGNC:2000 Unspecified CKS2 +OMIM:116901 skos:exactMatch UMLS:C1413440 Unspecified CKS2 +OMIM:116901 skos:exactMatch HGNC_symbol:CKS2 Unspecified CKS2 +OMIM:138333 skos:exactMatch UMLS:C1415337 Unspecified GSTM4 +OMIM:138333 skos:exactMatch HGNC_symbol:GSTM4 Unspecified GSTM4 +OMIM:138333 skos:exactMatch HGNC:4636 Unspecified GSTM4 +OMIM:258150 skos:exactMatch ORPHA:399805 Unspecified spermatogenic failure 1 +OMIM:258150 skos:exactMatch UMLS:C0403810 Unspecified spermatogenic failure 1 +OMIM:151300 skos:exactMatch HGNC:6656 Unspecified LNPEP +OMIM:151300 skos:exactMatch UMLS:C1416891 Unspecified LNPEP +OMIM:151300 skos:exactMatch HGNC_symbol:LNPEP Unspecified LNPEP +OMIM:608400 skos:exactMatch HGNC:12601 Unspecified USH2A +OMIM:608400 skos:exactMatch UMLS:C1421381 Unspecified USH2A +OMIM:608400 skos:exactMatch HGNC_symbol:USH2A Unspecified USH2A +OMIM:138340 skos:exactMatch UMLS:C1841901 Unspecified glutathione transferase activity toward trans-stilbene oxide +OMIM:608404 skos:exactMatch UMLS:C1842090 Unspecified platelet glycoprotein 4 deficiency +OMIM:608403 skos:exactMatch HGNC:13368 Unspecified MS4A10 +OMIM:608403 skos:exactMatch HGNC_symbol:MS4A10 Unspecified MS4A10 +OMIM:608403 skos:exactMatch UMLS:C1421953 Unspecified MS4A10 +OMIM:608402 skos:exactMatch HGNC:14285 Unspecified MS4A6E +OMIM:608402 skos:exactMatch UMLS:C1422543 Unspecified MS4A6E +OMIM:608402 skos:exactMatch HGNC_symbol:MS4A6E Unspecified MS4A6E +OMIM:608401 skos:exactMatch HGNC:14284 Unspecified MS4A4E +OMIM:608401 skos:exactMatch UMLS:C1422542 Unspecified MS4A4E +OMIM:608401 skos:exactMatch HGNC_symbol:MS4A4E Unspecified MS4A4E +OMIM:271110 skos:exactMatch UMLS:C1849108 Unspecified spinal muscular atrophy with microcephaly and mental subnormality +OMIM:151310 skos:exactMatch UMLS:C1415797 Unspecified LEUT +OMIM:273770 skos:exactMatch UMLS:C1848861 Unspecified threoninemia +OMIM:138350 skos:exactMatch UMLS:C0919534 Unspecified GSTM1 +OMIM:138350 skos:exactMatch HGNC:4632 Unspecified GSTM1 +OMIM:138350 skos:exactMatch HGNC_symbol:GSTM1 Unspecified GSTM1 +OMIM:138359 skos:exactMatch UMLS:C1415328 Unspecified GSTA1 +OMIM:138359 skos:exactMatch HGNC_symbol:GSTA1 Unspecified GSTA1 +OMIM:138359 skos:exactMatch HGNC:4626 Unspecified GSTA1 +OMIM:189940 skos:exactMatch UMLS:C1420877 Unspecified TPR +OMIM:189940 skos:exactMatch HGNC:12017 Unspecified TPR +OMIM:189940 skos:exactMatch HGNC_symbol:TPR Unspecified TPR +OMIM:190930 skos:exactMatch UMLS:C1420779 Unspecified TMOD +OMIM:190930 skos:exactMatch HGNC_symbol:TMOD1 Unspecified TMOD +OMIM:190930 skos:exactMatch HGNC:11871 Unspecified TMOD +OMIM:608462 skos:exactMatch UMLS:C1969482 Unspecified hirschsprung disease, susceptibility to, 8 +OMIM:608461 skos:exactMatch HGNC:22986 Unspecified COL27A1 +OMIM:608461 skos:exactMatch UMLS:C1427837 Unspecified COL27A1 +OMIM:608461 skos:exactMatch HGNC_symbol:COL27A1 Unspecified COL27A1 +OMIM:608460 skos:exactMatch UMLS:C1823967 Unspecified ZFP276 +OMIM:608460 skos:exactMatch HGNC:23330 Unspecified ZFP276 +OMIM:608460 skos:exactMatch HGNC_symbol:ZNF276 Unspecified ZFP276 +OMIM:608466 skos:exactMatch HGNC:1189 Unspecified AHSA1 +OMIM:608466 skos:exactMatch UMLS:C1412886 Unspecified AHSA1 +OMIM:608466 skos:exactMatch HGNC_symbol:AHSA1 Unspecified AHSA1 +OMIM:608465 skos:exactMatch HGNC:445 Unspecified SETX +OMIM:608465 skos:exactMatch HGNC_symbol:SETX Unspecified SETX +OMIM:608465 skos:exactMatch UMLS:C1822695 Unspecified SETX +OMIM:138360 skos:exactMatch HGNC:4627 Unspecified GSTA2 +OMIM:138360 skos:exactMatch UMLS:C1415329 Unspecified GSTA2 +OMIM:138360 skos:exactMatch HGNC_symbol:GSTA2 Unspecified GSTA2 +OMIM:608464 skos:exactMatch UMLS:C1540193 Unspecified AGGF1 +OMIM:608464 skos:exactMatch HGNC_symbol:AGGF1 Unspecified AGGF1 +OMIM:608464 skos:exactMatch HGNC:24684 Unspecified AGGF1 +OMIM:608463 skos:exactMatch UMLS:C1426102 Unspecified AATF +OMIM:608463 skos:exactMatch HGNC_symbol:AATF Unspecified AATF +OMIM:608463 skos:exactMatch HGNC:19235 Unspecified AATF +OMIM:271109 skos:exactMatch UMLS:C1849109 Unspecified spinal muscular atrophy with mental retardation +OMIM:608469 skos:exactMatch HGNC:2740 Unspecified DDX17 +OMIM:608469 skos:exactMatch HGNC_symbol:DDX17 Unspecified DDX17 +OMIM:608469 skos:exactMatch UMLS:C1413957 Unspecified DDX17 +OMIM:608468 skos:exactMatch UMLS:C1422515 Unspecified CCRN4L +OMIM:608468 skos:exactMatch HGNC_symbol:NOCT Unspecified CCRN4L +OMIM:608468 skos:exactMatch HGNC:14254 Unspecified CCRN4L +OMIM:608467 skos:exactMatch UMLS:C1823136 Unspecified STON2 +OMIM:608467 skos:exactMatch HGNC:30652 Unspecified STON2 +OMIM:608467 skos:exactMatch HGNC_symbol:STON2 Unspecified STON2 +OMIM:608449 skos:exactMatch HGNC:17662 Unspecified PTBP2 +OMIM:608449 skos:exactMatch HGNC_symbol:PTBP2 Unspecified PTBP2 +OMIM:608449 skos:exactMatch UMLS:C1425029 Unspecified PTBP2 +OMIM:190940 skos:exactMatch UMLS:C1860781 Unspecified ERVT1 +OMIM:608451 skos:exactMatch UMLS:C1428025 Unspecified ETHE1 +OMIM:608451 skos:exactMatch HGNC_symbol:ETHE1 Unspecified ETHE1 +OMIM:608451 skos:exactMatch HGNC:23287 Unspecified ETHE1 +OMIM:608450 skos:exactMatch HGNC_symbol:BLACE Unspecified BLACE +OMIM:608450 skos:exactMatch HGNC:20484 Unspecified BLACE +OMIM:608450 skos:exactMatch UMLS:C1426967 Unspecified BLACE +OMIM:608455 skos:exactMatch HGNC_symbol:PYGM Unspecified PYGM +OMIM:608455 skos:exactMatch HGNC:9726 Unspecified PYGM +OMIM:608455 skos:exactMatch UMLS:C1419157 Unspecified PYGM +OMIM:273750 skos:exactMatch UMLS:C2678312 Unspecified three m syndrome 1 +OMIM:608453 skos:exactMatch UMLS:C1423865 Unspecified CBLC +OMIM:608453 skos:exactMatch HGNC_symbol:CBLC Unspecified CBLC +OMIM:608453 skos:exactMatch HGNC:15961 Unspecified CBLC +OMIM:608452 skos:exactMatch HGNC_symbol:PDGFC Unspecified PDGFC +OMIM:608452 skos:exactMatch HGNC:8801 Unspecified PDGFC +OMIM:608452 skos:exactMatch UMLS:C1418436 Unspecified PDGFC +OMIM:608459 skos:exactMatch UMLS:C1423521 Unspecified CDKL3 +OMIM:608459 skos:exactMatch HGNC:15483 Unspecified CDKL3 +OMIM:608459 skos:exactMatch HGNC_symbol:CDKL3 Unspecified CDKL3 +OMIM:608458 skos:exactMatch UMLS:C1538048 Unspecified NCDN +OMIM:608458 skos:exactMatch HGNC_symbol:NCDN Unspecified NCDN +OMIM:608458 skos:exactMatch HGNC:17597 Unspecified NCDN +OMIM:608457 skos:exactMatch HGNC_symbol:CBX7 Unspecified CBX7 +OMIM:608457 skos:exactMatch HGNC:1557 Unspecified CBX7 +OMIM:608457 skos:exactMatch UMLS:C1413162 Unspecified CBX7 +OMIM:608456 skos:exactMatch UMLS:C1837991 Unspecified familial adenomatous polyposis 2 +OMIM:189923 skos:exactMatch HGNC:12342 Unspecified TRQ-TTG1-1 +OMIM:189923 skos:exactMatch UMLS:C1421177 Unspecified TRQ-TTG1-1 +OMIM:189923 skos:exactMatch HGNC_symbol:TRQ-TTG1-1 Unspecified TRQ-TTG1-1 +OMIM:608439 skos:exactMatch HGNC_symbol:TLK2 Unspecified TLK2 +OMIM:608439 skos:exactMatch HGNC:11842 Unspecified TLK2 +OMIM:608439 skos:exactMatch UMLS:C1420757 Unspecified TLK2 +OMIM:608438 skos:exactMatch HGNC:11841 Unspecified TLK1 +OMIM:608438 skos:exactMatch UMLS:C1420756 Unspecified TLK1 +OMIM:608438 skos:exactMatch HGNC_symbol:TLK1 Unspecified TLK1 +OMIM:189920 skos:exactMatch HGNC:12316 Unspecified TRL-TAG1-1 +OMIM:189920 skos:exactMatch UMLS:C1421155 Unspecified TRL-TAG1-1 +OMIM:189920 skos:exactMatch HGNC_symbol:TRL-TAG1-1 Unspecified TRL-TAG1-1 +OMIM:189921 skos:exactMatch HGNC:12353 Unspecified TRV-AAC1-4 +OMIM:189921 skos:exactMatch HGNC_symbol:TRV-AAC1-4 Unspecified TRV-AAC1-4 +OMIM:189921 skos:exactMatch UMLS:C1421187 Unspecified TRV-AAC1-4 +OMIM:608440 skos:exactMatch HGNC:16468 Unspecified LACTB +OMIM:608440 skos:exactMatch UMLS:C1442492 Unspecified LACTB +OMIM:608440 skos:exactMatch HGNC_symbol:LACTB Unspecified LACTB +OMIM:258100 skos:exactMatch UMLS:C4551824 Unspecified oguchi disease 1 +OMIM:608444 skos:exactMatch HGNC:18541 Unspecified KMT2E +OMIM:608444 skos:exactMatch HGNC_symbol:KMT2E Unspecified KMT2E +OMIM:608444 skos:exactMatch UMLS:C1425586 Unspecified KMT2E +OMIM:608443 skos:exactMatch UMLS:C1838023 Unspecified intellectual developmental disorder, autosomal recessive 3 +OMIM:608442 skos:exactMatch HGNC:17084 Unspecified SYNE2 +OMIM:608442 skos:exactMatch HGNC_symbol:SYNE2 Unspecified SYNE2 +OMIM:608442 skos:exactMatch UMLS:C3489792 Unspecified SYNE2 +OMIM:608442 skos:exactMatch UMLS:C1424731 Unspecified SYNE2 +OMIM:138385 skos:exactMatch HGNC:4637 Unspecified GSTM5 +OMIM:138385 skos:exactMatch UMLS:C1415338 Unspecified GSTM5 +OMIM:138385 skos:exactMatch HGNC_symbol:GSTM5 Unspecified GSTM5 +OMIM:273740 skos:exactMatch UMLS:C1848863 Unspecified thoracomelic dysplasia +OMIM:608441 skos:exactMatch UMLS:C5193121 Unspecified SYNE1 +OMIM:608441 skos:exactMatch UMLS:C4015968 Unspecified SYNE1 +OMIM:608441 skos:exactMatch HGNC:17089 Unspecified SYNE1 +OMIM:608441 skos:exactMatch HGNC_symbol:SYNE1 Unspecified SYNE1 +OMIM:608441 skos:exactMatch UMLS:C1853116 Unspecified SYNE1 +OMIM:608441 skos:exactMatch UMLS:C2986382 Unspecified SYNE1 +OMIM:608441 skos:exactMatch UMLS:C2751807 Unspecified SYNE1 +OMIM:608441 skos:exactMatch UMLS:C1424736 Unspecified SYNE1 +OMIM:608448 skos:exactMatch UMLS:C1838019 Unspecified inflammatory bowel disease 9 +OMIM:608447 skos:exactMatch UMLS:C1838020 Unspecified carotid intimal medial thickness 2 +OMIM:608446 skos:exactMatch UMLS:C1832662 Unspecified myocardial infarction, susceptibility to +OMIM:608446 skos:exactMatch UMLS:C1838021 Unspecified myocardial infarction, susceptibility to +OMIM:608446 skos:exactMatch UMLS:C3277063 Unspecified myocardial infarction, susceptibility to +OMIM:608445 skos:exactMatch UMLS:C4019167 Unspecified speech-sound disorder +OMIM:138380 skos:exactMatch HGNC:4634 Unspecified GSTM2 +OMIM:138380 skos:exactMatch UMLS:C1415335 Unspecified GSTM2 +OMIM:138380 skos:exactMatch HGNC_symbol:GSTM2 Unspecified GSTM2 +OMIM:189933 skos:exactMatch HGNC_symbol:TRT-TGT3-1 Unspecified TRT-TGT3-1 +OMIM:189933 skos:exactMatch HGNC:12351 Unspecified TRT-TGT3-1 +OMIM:189933 skos:exactMatch UMLS:C1421185 Unspecified TRT-TGT3-1 +OMIM:608429 skos:exactMatch HGNC_symbol:CHST14 Unspecified CHST14 +OMIM:608429 skos:exactMatch HGNC:24464 Unspecified CHST14 +OMIM:608429 skos:exactMatch UMLS:C1428376 Unspecified CHST14 +OMIM:190920 skos:exactMatch UMLS:C1420868 Unspecified TPBG +OMIM:190920 skos:exactMatch HGNC_symbol:TPBG Unspecified TPBG +OMIM:190920 skos:exactMatch HGNC:12004 Unspecified TPBG +OMIM:608428 skos:exactMatch HGNC_symbol:CYP26C1 Unspecified CYP26C1 +OMIM:608428 skos:exactMatch UMLS:C1427013 Unspecified CYP26C1 +OMIM:608428 skos:exactMatch HGNC:20577 Unspecified CYP26C1 +OMIM:608427 skos:exactMatch HGNC_symbol:PACRG Unspecified PACRG +OMIM:608427 skos:exactMatch HGNC:19152 Unspecified PACRG +OMIM:608427 skos:exactMatch UMLS:C1426045 Unspecified PACRG +OMIM:189930 skos:exactMatch HGNC:12330 Unspecified TRP-AGG2-5 +OMIM:189930 skos:exactMatch UMLS:C1421165 Unspecified TRP-AGG2-5 +OMIM:189930 skos:exactMatch HGNC_symbol:TRP-AGG2-5 Unspecified TRP-AGG2-5 +OMIM:189931 skos:exactMatch HGNC_symbol:TRP-AGG2-6 Unspecified TRP-AGG2-6 +OMIM:189931 skos:exactMatch HGNC:12331 Unspecified TRP-AGG2-6 +OMIM:189931 skos:exactMatch UMLS:C1421166 Unspecified TRP-AGG2-6 +OMIM:189932 skos:exactMatch HGNC:12315 Unspecified TRL-AAG2-3 +OMIM:189932 skos:exactMatch HGNC_symbol:TRL-AAG2-3 Unspecified TRL-AAG2-3 +OMIM:189932 skos:exactMatch UMLS:C1421154 Unspecified TRL-AAG2-3 +OMIM:261750 skos:exactMatch UMLS:C0543514 Unspecified glycogen storage disease ixb +OMIM:608433 skos:exactMatch UMLS:C1421725 Unspecified ZBTB18 +OMIM:608433 skos:exactMatch HGNC_symbol:ZBTB18 Unspecified ZBTB18 +OMIM:608433 skos:exactMatch HGNC:13030 Unspecified ZBTB18 +OMIM:151350 skos:exactMatch UMLS:C3809522 Unspecified LARS1 +OMIM:151350 skos:exactMatch UMLS:C1416799 Unspecified LARS1 +OMIM:151350 skos:exactMatch HGNC:6512 Unspecified LARS1 +OMIM:151350 skos:exactMatch HGNC_symbol:LARS1 Unspecified LARS1 +OMIM:608432 skos:exactMatch UMLS:C1842058 Unspecified craniosynostosis, calcification of basal ganglia, and facial dysmorphism +OMIM:608431 skos:exactMatch UMLS:C1825325 Unspecified G3BP1 +OMIM:608431 skos:exactMatch HGNC:30292 Unspecified G3BP1 +OMIM:608431 skos:exactMatch HGNC_symbol:G3BP1 Unspecified G3BP1 +OMIM:608430 skos:exactMatch HGNC_symbol:TRPC4AP Unspecified TRPC4AP +OMIM:608430 skos:exactMatch HGNC:16181 Unspecified TRPC4AP +OMIM:608430 skos:exactMatch UMLS:C1424058 Unspecified TRPC4AP +OMIM:273730 skos:exactMatch UMLS:C1848864 Unspecified thoracic dysplasia-hydrocephalus syndrome +OMIM:138390 skos:exactMatch HGNC:4635 Unspecified GSTM3 +OMIM:138390 skos:exactMatch UMLS:C1415336 Unspecified GSTM3 +OMIM:138390 skos:exactMatch HGNC_symbol:GSTM3 Unspecified GSTM3 +OMIM:608437 skos:exactMatch UMLS:C1842057 Unspecified systemic lupus erythematosus, susceptibility to, 4 +OMIM:608436 skos:exactMatch HGNC_symbol:SULT1B1 Unspecified SULT1B1 +OMIM:608436 skos:exactMatch HGNC:17845 Unspecified SULT1B1 +OMIM:608436 skos:exactMatch UMLS:C1425126 Unspecified SULT1B1 +OMIM:608435 skos:exactMatch UMLS:C1367476 Unspecified MRAS +OMIM:608435 skos:exactMatch HGNC:7227 Unspecified MRAS +OMIM:608435 skos:exactMatch HGNC_symbol:MRAS Unspecified MRAS +OMIM:608434 skos:exactMatch UMLS:C1333676 Unspecified GIT1 +OMIM:608434 skos:exactMatch HGNC:4272 Unspecified GIT1 +OMIM:608434 skos:exactMatch HGNC_symbol:GIT1 Unspecified GIT1 +OMIM:189980 skos:exactMatch HGNC:76 Unspecified ABL1 +OMIM:189980 skos:exactMatch HGNC_symbol:ABL1 Unspecified ABL1 +OMIM:189980 skos:exactMatch UMLS:C1412097 Unspecified ABL1 +OMIM:189980 skos:exactMatch UMLS:C4016396 Unspecified ABL1 +OMIM:189980 skos:exactMatch UMLS:C5193173 Unspecified ABL1 +OMIM:189980 skos:exactMatch UMLS:C4539857 Unspecified ABL1 +OMIM:248760 skos:exactMatch UMLS:C1855348 Unspecified marfanoid habitus with microcephaly and glomerulonephritis +OMIM:261740 skos:exactMatch UMLS:C1849813 Unspecified glycogen storage disease of heart, lethal congenital +OMIM:187320 skos:exactMatch UMLS:C1861244 Unspecified temperature sensitivity complementation, cell cycle specific, ts13 +OMIM:248770 skos:exactMatch UMLS:C1855347 Unspecified marfanoid mental retardation syndrome, autosomal +OMIM:177990 skos:exactMatch UMLS:C1867442 Unspecified pterygium colli, isolated +OMIM:190970 skos:exactMatch UMLS:C1860778 Unspecified ERVT4 +OMIM:187330 skos:exactMatch UMLS:C1861243 Unspecified temperature sensitivity complementation, cell cycle specific, ts546 +OMIM:189990 skos:exactMatch HGNC_symbol:MYB Unspecified MYB +OMIM:189990 skos:exactMatch HGNC:7545 Unspecified MYB +OMIM:189990 skos:exactMatch UMLS:C0026900 Unspecified MYB +OMIM:608491 skos:exactMatch HGNC:14603 Unspecified DMTF1 +OMIM:608491 skos:exactMatch UMLS:C1422784 Unspecified DMTF1 +OMIM:608491 skos:exactMatch HGNC_symbol:DMTF1 Unspecified DMTF1 +OMIM:608490 skos:exactMatch HGNC:13447 Unspecified SLC38A1 +OMIM:608490 skos:exactMatch HGNC_symbol:SLC38A1 Unspecified SLC38A1 +OMIM:608490 skos:exactMatch UMLS:C1421999 Unspecified SLC38A1 +OMIM:608495 skos:exactMatch HGNC:15301 Unspecified OR6A2 +OMIM:608495 skos:exactMatch UMLS:C1423385 Unspecified OR6A2 +OMIM:608495 skos:exactMatch HGNC_symbol:OR6A2 Unspecified OR6A2 +OMIM:608494 skos:exactMatch HGNC:8244 Unspecified OR2D2 +OMIM:608494 skos:exactMatch UMLS:C1418024 Unspecified OR2D2 +OMIM:608494 skos:exactMatch HGNC_symbol:OR2D2 Unspecified OR2D2 +OMIM:608493 skos:exactMatch HGNC_symbol:OR10A5 Unspecified OR10A1 +OMIM:608493 skos:exactMatch UMLS:C1423227 Unspecified OR10A1 +OMIM:608493 skos:exactMatch HGNC:15131 Unspecified OR10A1 +OMIM:608492 skos:exactMatch HGNC:8343 Unspecified OR5F1 +OMIM:608492 skos:exactMatch UMLS:C1418089 Unspecified OR5F1 +OMIM:608492 skos:exactMatch HGNC_symbol:OR5F1 Unspecified OR5F1 +OMIM:190980 skos:exactMatch UMLS:C1860777 Unspecified ERVT5 +OMIM:608499 skos:exactMatch HGNC:20678 Unspecified ZPBP2 +OMIM:608499 skos:exactMatch UMLS:C1538253 Unspecified ZPBP2 +OMIM:608499 skos:exactMatch HGNC_symbol:ZPBP2 Unspecified ZPBP2 +OMIM:177980 skos:exactMatch UMLS:C1867443 Unspecified pterygia, mental retardation, and distinctive craniofacial features +OMIM:608498 skos:exactMatch HGNC:15662 Unspecified ZPBP +OMIM:608498 skos:exactMatch UMLS:C1423639 Unspecified ZPBP +OMIM:608498 skos:exactMatch HGNC_symbol:ZPBP Unspecified ZPBP +OMIM:608497 skos:exactMatch HGNC:8246 Unspecified OR2F1 +OMIM:608497 skos:exactMatch UMLS:C1418025 Unspecified OR2F1 +OMIM:608497 skos:exactMatch HGNC_symbol:OR2F1 Unspecified OR2F1 +OMIM:608496 skos:exactMatch HGNC:8347 Unspecified OR5I1 +OMIM:608496 skos:exactMatch UMLS:C1418092 Unspecified OR5I1 +OMIM:608496 skos:exactMatch HGNC_symbol:OR5I1 Unspecified OR5I1 +OMIM:234100 skos:exactMatch UMLS:C0018522 Unspecified hallermann-streiff syndrome +OMIM:189967 skos:exactMatch HGNC:11714 Unspecified TEAD1 +OMIM:189967 skos:exactMatch UMLS:C1420679 Unspecified TEAD1 +OMIM:189967 skos:exactMatch HGNC_symbol:TEAD1 Unspecified TEAD1 +OMIM:189967 skos:exactMatch UMLS:C1862382 Unspecified TEAD1 +OMIM:189968 skos:exactMatch UMLS:C1333721 Unspecified GTF2F1 +OMIM:189968 skos:exactMatch HGNC:4652 Unspecified GTF2F1 +OMIM:189968 skos:exactMatch HGNC_symbol:GTF2F1 Unspecified GTF2F1 +OMIM:187300 skos:exactMatch UMLS:C4551861 Unspecified telangiectasia, hereditary hemorrhagic, iia 1 +OMIM:189969 skos:exactMatch UMLS:C1333722 Unspecified GTF2F2 +OMIM:189969 skos:exactMatch HGNC:4653 Unspecified GTF2F2 +OMIM:189969 skos:exactMatch HGNC_symbol:GTF2F2 Unspecified GTF2F2 +OMIM:189962 skos:exactMatch HGNC:4650 Unspecified GTF2E1 +OMIM:189962 skos:exactMatch HGNC_symbol:GTF2E1 Unspecified GTF2E1 +OMIM:189962 skos:exactMatch UMLS:C1333719 Unspecified GTF2E1 +OMIM:189963 skos:exactMatch HGNC:4648 Unspecified GTF2B +OMIM:189963 skos:exactMatch UMLS:C1333718 Unspecified GTF2B +OMIM:189963 skos:exactMatch HGNC_symbol:GTF2B Unspecified GTF2B +OMIM:189964 skos:exactMatch HGNC:4651 Unspecified GTF2E2 +OMIM:189964 skos:exactMatch HGNC_symbol:GTF2E2 Unspecified GTF2E2 +OMIM:189964 skos:exactMatch UMLS:C1333720 Unspecified GTF2E2 +OMIM:189965 skos:exactMatch HGNC_symbol:CEBPB Unspecified CEBPB +OMIM:189965 skos:exactMatch UMLS:C1413323 Unspecified CEBPB +OMIM:189965 skos:exactMatch HGNC:1834 Unspecified CEBPB +OMIM:190950 skos:exactMatch UMLS:C1860780 Unspecified ERVT2 +OMIM:189960 skos:exactMatch UMLS:C1861028 Unspecified tracheoesophageal fistula with or without esophageal atresia +OMIM:189961 skos:exactMatch UMLS:C3887588 Unspecified tracheopathia osteoplastica +OMIM:608480 skos:exactMatch HGNC:14468 Unspecified SLC26A8 +OMIM:608480 skos:exactMatch UMLS:C1422674 Unspecified SLC26A8 +OMIM:608480 skos:exactMatch HGNC_symbol:SLC26A8 Unspecified SLC26A8 +OMIM:608484 skos:exactMatch UMLS:C1837970 Unspecified congenital corneal opacities, cornea guttata, and corectopia +OMIM:608483 skos:exactMatch UMLS:C1823170 Unspecified AKTIP +OMIM:608483 skos:exactMatch HGNC:16710 Unspecified AKTIP +OMIM:608483 skos:exactMatch HGNC_symbol:AKTIP Unspecified AKTIP +OMIM:151385 skos:exactMatch HGNC_symbol:RUNX1 Unspecified RUNX1 +OMIM:151385 skos:exactMatch UMLS:C1835425 Unspecified RUNX1 +OMIM:151385 skos:exactMatch UMLS:C1864633 Unspecified RUNX1 +OMIM:151385 skos:exactMatch UMLS:C1851466 Unspecified RUNX1 +OMIM:151385 skos:exactMatch UMLS:C1335654 Unspecified RUNX1 +OMIM:151385 skos:exactMatch UMLS:C3274667 Unspecified RUNX1 +OMIM:151385 skos:exactMatch UMLS:C0919449 Unspecified RUNX1 +OMIM:151385 skos:exactMatch UMLS:C1857714 Unspecified RUNX1 +OMIM:151385 skos:exactMatch HGNC:10471 Unspecified RUNX1 +OMIM:151385 skos:exactMatch UMLS:C1838720 Unspecified RUNX1 +OMIM:151385 skos:exactMatch UMLS:C1837551 Unspecified RUNX1 +OMIM:608482 skos:exactMatch HGNC:14246 Unspecified MMP25 +OMIM:608482 skos:exactMatch HGNC_symbol:MMP25 Unspecified MMP25 +OMIM:608482 skos:exactMatch UMLS:C1422507 Unspecified MMP25 +OMIM:608481 skos:exactMatch HGNC:14469 Unspecified SLC26A9 +OMIM:608481 skos:exactMatch HGNC_symbol:SLC26A9 Unspecified SLC26A9 +OMIM:608481 skos:exactMatch UMLS:C1422675 Unspecified SLC26A9 +OMIM:608488 skos:exactMatch HGNC:20318 Unspecified SMOC1 +OMIM:608488 skos:exactMatch UMLS:C1426855 Unspecified SMOC1 +OMIM:608488 skos:exactMatch HGNC_symbol:SMOC1 Unspecified SMOC1 +OMIM:236792 skos:exactMatch UMLS:C1855995 Unspecified l-2-hydroxyglutaric aciduria +OMIM:608487 skos:exactMatch HGNC:16276 Unspecified TRIM5 +OMIM:608487 skos:exactMatch UMLS:C1424146 Unspecified TRIM5 +OMIM:608487 skos:exactMatch HGNC_symbol:TRIM5 Unspecified TRIM5 +OMIM:236795 skos:exactMatch UMLS:C0342737 Unspecified 3-hydroxyisobutyric aciduria +OMIM:608486 skos:exactMatch HGNC:20443 Unspecified MTSS1 +OMIM:608486 skos:exactMatch UMLS:C1426941 Unspecified MTSS1 +OMIM:608486 skos:exactMatch HGNC_symbol:MTSS1 Unspecified MTSS1 +OMIM:608485 skos:exactMatch HGNC:16855 Unspecified TRAM2 +OMIM:608485 skos:exactMatch UMLS:C1424596 Unspecified TRAM2 +OMIM:608485 skos:exactMatch HGNC_symbol:TRAM2 Unspecified TRAM2 +OMIM:151380 skos:exactMatch UMLS:C0023465 Unspecified leukemia, acute monocytic +OMIM:608489 skos:exactMatch UMLS:C1420450 Unspecified STAG3 +OMIM:608489 skos:exactMatch HGNC_symbol:STAG3 Unspecified STAG3 +OMIM:608489 skos:exactMatch HGNC:11356 Unspecified STAG3 +OMIM:189973 skos:exactMatch HGNC:3316 Unspecified ELF1 +OMIM:189973 skos:exactMatch HGNC_symbol:ELF1 Unspecified ELF1 +OMIM:189973 skos:exactMatch UMLS:C1414375 Unspecified ELF1 +OMIM:190960 skos:exactMatch UMLS:C1860779 Unspecified ERVT3 +OMIM:189970 skos:exactMatch UMLS:C1415161 Unspecified GNGT1 +OMIM:189970 skos:exactMatch HGNC_symbol:GNGT1 Unspecified GNGT1 +OMIM:189970 skos:exactMatch HGNC:4411 Unspecified GNGT1 +OMIM:189971 skos:exactMatch HGNC_symbol:E2F1 Unspecified E2F1 +OMIM:189971 skos:exactMatch HGNC:3113 Unspecified E2F1 +OMIM:189971 skos:exactMatch UMLS:C0812258 Unspecified E2F1 +OMIM:189972 skos:exactMatch HGNC_symbol:GTF2H1 Unspecified GTF2H1 +OMIM:189972 skos:exactMatch UMLS:C1333723 Unspecified GTF2H1 +OMIM:189972 skos:exactMatch HGNC:4655 Unspecified GTF2H1 +OMIM:187310 skos:exactMatch UMLS:C1416535 Unspecified temperature sensitivity complementation, cell cycle specific, k12 +OMIM:608473 skos:exactMatch UMLS:C1426585 Unspecified ANAPC1 +OMIM:608473 skos:exactMatch HGNC_symbol:ANAPC1 Unspecified ANAPC1 +OMIM:608473 skos:exactMatch HGNC:19988 Unspecified ANAPC1 +OMIM:608472 skos:exactMatch UMLS:C1539866 Unspecified ST6GAL2 +OMIM:608472 skos:exactMatch HGNC_symbol:ST6GAL2 Unspecified ST6GAL2 +OMIM:608472 skos:exactMatch HGNC:10861 Unspecified ST6GAL2 +OMIM:608471 skos:exactMatch UMLS:C1837974 Unspecified corneal dystrophy, lattice iia 3a +OMIM:608471 skos:exactMatch ORPHA:98964 Unspecified corneal dystrophy, lattice iia 3a +OMIM:608470 skos:exactMatch UMLS:C0339278 Unspecified corneal dystrophy, reis-bucklers iia +OMIM:608477 skos:exactMatch HGNC_symbol:AKR7A3 Unspecified AKR7A3 +OMIM:608477 skos:exactMatch HGNC:390 Unspecified AKR7A3 +OMIM:608477 skos:exactMatch UMLS:C1412329 Unspecified AKR7A3 +OMIM:608476 skos:exactMatch UMLS:C1823250 Unspecified TBKBP1 +OMIM:608476 skos:exactMatch HGNC:30140 Unspecified TBKBP1 +OMIM:608476 skos:exactMatch HGNC_symbol:TBKBP1 Unspecified TBKBP1 +OMIM:608475 skos:exactMatch HGNC:4907 Unspecified HIBADH +OMIM:608475 skos:exactMatch UMLS:C1415542 Unspecified HIBADH +OMIM:608475 skos:exactMatch HGNC_symbol:HIBADH Unspecified HIBADH +OMIM:608474 skos:exactMatch UMLS:C1837972 Unspecified myopia 5, autosomal dominant +OMIM:305000 skos:exactMatch UMLS:C1148551 Unspecified dyskeratosis congenita, X-linked +OMIM:305000 skos:exactMatch UMLS:C3806774 Unspecified dyskeratosis congenita, X-linked +OMIM:305000 skos:exactMatch UMLS:C1846142 Unspecified dyskeratosis congenita, X-linked +OMIM:608479 skos:exactMatch HGNC:14467 Unspecified SLC26A7 +OMIM:608479 skos:exactMatch UMLS:C1422673 Unspecified SLC26A7 +OMIM:608479 skos:exactMatch HGNC_symbol:SLC26A7 Unspecified SLC26A7 +OMIM:608478 skos:exactMatch UMLS:C1837971 Unspecified None +OMIM:608478 skos:exactMatch HGNC_symbol:AKR7L Unspecified None +OMIM:608478 skos:exactMatch HGNC:24056 Unspecified None +OMIM:224750 skos:exactMatch UMLS:C1857069 Unspecified schopf-schulz-passarge syndrome +OMIM:224750 skos:exactMatch ORPHA:50944 Unspecified schopf-schulz-passarge syndrome +OMIM:236730 skos:exactMatch UMLS:C0403555 Unspecified urofacial syndrome 1 +OMIM:210100 skos:exactMatch UMLS:C1859518 Unspecified beta-aminoisobutyric aciduria +OMIM:163260 skos:exactMatch HGNC:7781 Unspecified NFE2L1 +OMIM:163260 skos:exactMatch UMLS:C1417700 Unspecified NFE2L1 +OMIM:163260 skos:exactMatch HGNC_symbol:NFE2L1 Unspecified NFE2L1 +OMIM:151290 skos:exactMatch HGNC_symbol:B3GAT1 Unspecified B3GAT1 +OMIM:151290 skos:exactMatch HGNC:921 Unspecified B3GAT1 +OMIM:151290 skos:exactMatch UMLS:C1412716 Unspecified B3GAT1 +OMIM:189889 skos:exactMatch UMLS:C1456377 Unspecified TFCP2 +OMIM:189889 skos:exactMatch HGNC_symbol:TFCP2 Unspecified TFCP2 +OMIM:189889 skos:exactMatch HGNC:11748 Unspecified TFCP2 +OMIM:248700 skos:exactMatch UMLS:C0796033 Unspecified marden-walker syndrome +OMIM:189880 skos:exactMatch HGNC:54714 Unspecified TRN-GTT2-7 +OMIM:189880 skos:exactMatch HGNC_symbol:TRN-GTT2-7 Unspecified TRN-GTT2-7 +OMIM:189880 skos:exactMatch UMLS:C5239945 Unspecified TRN-GTT2-7 +OMIM:212780 skos:exactMatch UMLS:C1859309 Unspecified cenani-lenz syndactyly syndrome +OMIM:236750 skos:exactMatch ORPHA:363999 Unspecified hydrops fetalis, nonimmune +OMIM:236750 skos:exactMatch ORPHA:163596 Unspecified hydrops fetalis, nonimmune +OMIM:236750 skos:exactMatch UMLS:C0455988 Unspecified hydrops fetalis, nonimmune +OMIM:236750 skos:exactMatch ORPHA:1041 Unspecified hydrops fetalis, nonimmune +OMIM:222100 skos:exactMatch UMLS:C0011854 Unspecified iia 1 diabetes mellitus +OMIM:222100 skos:exactMatch UMLS:C5435660 Unspecified iia 1 diabetes mellitus +OMIM:189890 skos:exactMatch UMLS:C1421162 Unspecified TRNL +OMIM:608392 skos:exactMatch UMLS:C1842112 Unspecified autoimmune disease, susceptibility to, 3 +OMIM:608391 skos:exactMatch UMLS:C1842113 Unspecified autoimmune disease, susceptibility to, 2 +OMIM:608390 skos:exactMatch UMLS:C2931826 Unspecified myotonia, potassium-aggravated +OMIM:608390 skos:exactMatch UMLS:C3149517 Unspecified myotonia, potassium-aggravated +OMIM:608396 skos:exactMatch UMLS:C1427060 Unspecified SLC9A9 +OMIM:608396 skos:exactMatch HGNC_symbol:SLC9A9 Unspecified SLC9A9 +OMIM:608396 skos:exactMatch HGNC:20653 Unspecified SLC9A9 +OMIM:608394 skos:exactMatch UMLS:C1842108 Unspecified deafness, autosomal dominant 43 +OMIM:608393 skos:exactMatch UMLS:C1842109 Unspecified microcephaly 6, primary, autosomal recessive +OMIM:608399 skos:exactMatch HGNC:19291 Unspecified CSMD3 +OMIM:608399 skos:exactMatch HGNC_symbol:CSMD3 Unspecified CSMD3 +OMIM:608399 skos:exactMatch UMLS:C1426145 Unspecified CSMD3 +OMIM:608398 skos:exactMatch HGNC:19290 Unspecified CSMD2 +OMIM:608398 skos:exactMatch HGNC_symbol:CSMD2 Unspecified CSMD2 +OMIM:608398 skos:exactMatch UMLS:C1426144 Unspecified CSMD2 +OMIM:212790 skos:exactMatch UMLS:C1859308 Unspecified premature centromere division +OMIM:608397 skos:exactMatch UMLS:C1422360 Unspecified CSMD1 +OMIM:608397 skos:exactMatch HGNC_symbol:CSMD1 Unspecified CSMD1 +OMIM:608397 skos:exactMatch HGNC:14026 Unspecified CSMD1 +OMIM:307700 skos:exactMatch UMLS:C0342344 Unspecified hypoparathyroidism, X-linked +OMIM:187290 skos:exactMatch UMLS:C1861252 Unspecified temperature sensitivity complementation, cell cycle specific, h142 +OMIM:212720 skos:exactMatch UMLS:C0796037 Unspecified martsolf syndrome 1 +OMIM:224700 skos:exactMatch UMLS:C0013481 Unspecified ebstein anomaly +OMIM:187260 skos:exactMatch UMLS:C0406502 Unspecified telangiectasia, hereditary benign +OMIM:209100 skos:exactMatch UMLS:C1859594 Unspecified atonic-astatic syndrome of foerster +OMIM:126390 skos:exactMatch UMLS:C1852041 Unspecified dna, low-repetitive sequences of +OMIM:126391 skos:exactMatch UMLS:C1416851 Unspecified LIG1 +OMIM:126391 skos:exactMatch HGNC_symbol:LIG1 Unspecified LIG1 +OMIM:126391 skos:exactMatch HGNC:6598 Unspecified LIG1 +OMIM:187270 skos:exactMatch UMLS:C1367342 Unspecified TERT +OMIM:187270 skos:exactMatch HGNC_symbol:TERT Unspecified TERT +OMIM:187270 skos:exactMatch HGNC:11730 Unspecified TERT +OMIM:126380 skos:exactMatch UMLS:C1333355 Unspecified ERCC1 +OMIM:126380 skos:exactMatch HGNC:3433 Unspecified ERCC1 +OMIM:126380 skos:exactMatch HGNC_symbol:ERCC1 Unspecified ERCC1 +OMIM:187280 skos:exactMatch HGNC:1080 Unspecified POLR3D +OMIM:187280 skos:exactMatch HGNC_symbol:POLR3D Unspecified POLR3D +OMIM:187280 skos:exactMatch UMLS:C1412808 Unspecified POLR3D +OMIM:126375 skos:exactMatch HGNC_symbol:DNMT1 Unspecified DNMT1 +OMIM:126375 skos:exactMatch UMLS:C1414121 Unspecified DNMT1 +OMIM:126375 skos:exactMatch HGNC:2976 Unspecified DNMT1 +OMIM:236700 skos:exactMatch UMLS:C0948368 Unspecified mckusick-kaufman syndrome +OMIM:212750 skos:exactMatch UMLS:C1859310 Unspecified celiac disease, susceptibility to, 1 +OMIM:200700 skos:exactMatch UMLS:C0265260 Unspecified acromesomelic dysplasia 2a +OMIM:126370 skos:exactMatch UMLS:C1852044 Unspecified dna, satellite, 3 +OMIM:126350 skos:exactMatch HGNC:2960 Unspecified DNASE2 +OMIM:126350 skos:exactMatch HGNC_symbol:DNASE2 Unspecified DNASE2 +OMIM:126350 skos:exactMatch UMLS:C1414111 Unspecified DNASE2 +OMIM:126340 skos:exactMatch HGNC_symbol:ERCC2 Unspecified ERCC2 +OMIM:126340 skos:exactMatch UMLS:C1333356 Unspecified ERCC2 +OMIM:126340 skos:exactMatch HGNC:3434 Unspecified ERCC2 +OMIM:126337 skos:exactMatch HGNC_symbol:DDIT3 Unspecified DDIT3 +OMIM:126337 skos:exactMatch HGNC:2726 Unspecified DDIT3 +OMIM:126337 skos:exactMatch UMLS:C1413947 Unspecified DDIT3 +OMIM:126335 skos:exactMatch UMLS:C1333655 Unspecified GADD45A +OMIM:126335 skos:exactMatch HGNC_symbol:GADD45A Unspecified GADD45A +OMIM:126335 skos:exactMatch HGNC:4095 Unspecified GADD45A +OMIM:212710 skos:exactMatch UMLS:C0796123 Unspecified cataract-ataxia-deafness-retardation syndrome +OMIM:126330 skos:exactMatch UMLS:C1414117 Unspecified DNCM +OMIM:128992 skos:exactMatch HGNC_symbol:EGR4 Unspecified EGR4 +OMIM:128992 skos:exactMatch UMLS:C1414317 Unspecified EGR4 +OMIM:128992 skos:exactMatch HGNC:3241 Unspecified EGR4 +OMIM:128990 skos:exactMatch UMLS:C1414314 Unspecified EGR1 +OMIM:128990 skos:exactMatch HGNC:3238 Unspecified EGR1 +OMIM:128990 skos:exactMatch HGNC_symbol:EGR1 Unspecified EGR1 +OMIM:126320 skos:exactMatch UMLS:C1852062 Unspecified distichiasis with congenital anomalies of the heart and peripheral vasculature +OMIM:114350 skos:exactMatch HGNC_symbol:NUP214 Unspecified NUP214 +OMIM:114350 skos:exactMatch HGNC:8064 Unspecified NUP214 +OMIM:114350 skos:exactMatch UMLS:C1334912 Unspecified NUP214 +OMIM:114350 skos:exactMatch UMLS:C1861917 Unspecified NUP214 +OMIM:114350 skos:exactMatch UMLS:C1861918 Unspecified NUP214 +OMIM:102350 skos:exactMatch UMLS:C4023704 Unspecified acromial dimples +OMIM:102370 skos:exactMatch UMLS:C0265287 Unspecified acromicric dysplasia +OMIM:128980 skos:exactMatch UMLS:C1851896 Unspecified earlobes, thickened, with conductive deafness from incudostapedial abnormalities +OMIM:141900 skos:exactMatch HGNC:4827 Unspecified HBB +OMIM:141900 skos:exactMatch UMLS:C1415481 Unspecified HBB +OMIM:141900 skos:exactMatch HGNC_symbol:HBB Unspecified HBB +OMIM:126300 skos:exactMatch UMLS:C0423848 Unspecified distichiasis +OMIM:128950 skos:exactMatch UMLS:C1851897 Unspecified earlobe crease +OMIM:608503 skos:exactMatch HGNC_symbol:PCBP4 Unspecified PCBP4 +OMIM:608503 skos:exactMatch HGNC:8652 Unspecified PCBP4 +OMIM:608503 skos:exactMatch UMLS:C1418302 Unspecified PCBP4 +OMIM:608502 skos:exactMatch HGNC_symbol:PCBP3 Unspecified PCBP3 +OMIM:608502 skos:exactMatch HGNC:8651 Unspecified PCBP3 +OMIM:608502 skos:exactMatch UMLS:C1418301 Unspecified PCBP3 +OMIM:608501 skos:exactMatch HGNC:20340 Unspecified PRICKLE2 +OMIM:608501 skos:exactMatch HGNC_symbol:PRICKLE2 Unspecified PRICKLE2 +OMIM:608501 skos:exactMatch UMLS:C1426874 Unspecified PRICKLE2 +OMIM:608500 skos:exactMatch HGNC_symbol:PRICKLE1 Unspecified PRICKLE1 +OMIM:608500 skos:exactMatch UMLS:C1424690 Unspecified PRICKLE1 +OMIM:608500 skos:exactMatch HGNC:17019 Unspecified PRICKLE1 +OMIM:138400 skos:exactMatch HGNC:4141 Unspecified GAPDH +OMIM:138400 skos:exactMatch HGNC_symbol:GAPDH Unspecified GAPDH +OMIM:138400 skos:exactMatch UMLS:C1414968 Unspecified GAPDH +OMIM:138420 skos:exactMatch HGNC:4455 Unspecified GPD1 +OMIM:138420 skos:exactMatch UMLS:C1415199 Unspecified GPD1 +OMIM:138420 skos:exactMatch HGNC_symbol:GPD1 Unspecified GPD1 +OMIM:271270 skos:exactMatch UMLS:C1849088 Unspecified spinocerebellar ataxia with dysmorphism +OMIM:608539 skos:exactMatch HGNC:29450 Unspecified GLIS2 +OMIM:608539 skos:exactMatch UMLS:C1539573 Unspecified GLIS2 +OMIM:608539 skos:exactMatch HGNC_symbol:GLIS2 Unspecified GLIS2 +OMIM:608538 skos:exactMatch HGNC_symbol:ARID5B Unspecified ARID5B +OMIM:608538 skos:exactMatch UMLS:C1424935 Unspecified ARID5B +OMIM:608538 skos:exactMatch HGNC:17362 Unspecified ARID5B +OMIM:608537 skos:exactMatch UMLS:C1837915 Unspecified VHL +OMIM:608537 skos:exactMatch UMLS:C0694897 Unspecified VHL +OMIM:608537 skos:exactMatch UMLS:C4017161 Unspecified VHL +OMIM:608537 skos:exactMatch UMLS:C4017160 Unspecified VHL +OMIM:608537 skos:exactMatch UMLS:C5394582 Unspecified VHL +OMIM:608537 skos:exactMatch UMLS:C0031511 Unspecified VHL +OMIM:608537 skos:exactMatch HGNC_symbol:VHL Unspecified VHL +OMIM:608537 skos:exactMatch HGNC:12687 Unspecified VHL +OMIM:608537 skos:exactMatch UMLS:C0019562 Unspecified VHL +OMIM:138430 skos:exactMatch HGNC:4456 Unspecified GPD2 +OMIM:138430 skos:exactMatch HGNC_symbol:GPD2 Unspecified GPD2 +OMIM:138430 skos:exactMatch UMLS:C1415200 Unspecified GPD2 +OMIM:151400 skos:exactMatch UMLS:C0023434 Unspecified leukemia, chronic lymphocytic +OMIM:608543 skos:exactMatch UMLS:C1837893 Unspecified schizophrenia 12 +OMIM:608542 skos:exactMatch UMLS:C1837894 Unspecified aneurysm, intracranial berry, 2 +OMIM:608541 skos:exactMatch HGNC:17399 Unspecified None +OMIM:608541 skos:exactMatch UMLS:C1837895 Unspecified None +OMIM:608541 skos:exactMatch HGNC_symbol:ARHGAP32 Unspecified None +OMIM:138440 skos:exactMatch UMLS:C1414989 Unspecified GART +OMIM:138440 skos:exactMatch HGNC_symbol:GART Unspecified GART +OMIM:138440 skos:exactMatch HGNC:4163 Unspecified GART +OMIM:608540 skos:exactMatch ORPHA:79327 Unspecified congenital disorder of glycosylation, iia ik +OMIM:608540 skos:exactMatch UMLS:C2931005 Unspecified congenital disorder of glycosylation, iia ik +OMIM:608547 skos:exactMatch HGNC_symbol:VKORC1 Unspecified VKORC1 +OMIM:608547 skos:exactMatch HGNC:23663 Unspecified VKORC1 +OMIM:608547 skos:exactMatch UMLS:C1428184 Unspecified VKORC1 +OMIM:608546 skos:exactMatch HGNC_symbol:EIF4A3 Unspecified EIF4A3 +OMIM:608546 skos:exactMatch UMLS:C1825045 Unspecified EIF4A3 +OMIM:608546 skos:exactMatch HGNC:18683 Unspecified EIF4A3 +OMIM:608545 skos:exactMatch UMLS:C1837884 Unspecified larsen-like syndrome +OMIM:608544 skos:exactMatch UMLS:C1425333 Unspecified HDAC10 +OMIM:608544 skos:exactMatch HGNC:18128 Unspecified HDAC10 +OMIM:608544 skos:exactMatch HGNC_symbol:HDAC10 Unspecified HDAC10 +OMIM:608529 skos:exactMatch HGNC:18794 Unspecified FBN3 +OMIM:608529 skos:exactMatch UMLS:C1425778 Unspecified FBN3 +OMIM:608529 skos:exactMatch HGNC_symbol:FBN3 Unspecified FBN3 +OMIM:608528 skos:exactMatch HGNC:15791 Unspecified PIGU +OMIM:608528 skos:exactMatch UMLS:C5231419 Unspecified PIGU +OMIM:608528 skos:exactMatch HGNC_symbol:PIGU Unspecified PIGU +OMIM:608528 skos:exactMatch UMLS:C1423732 Unspecified PIGU +OMIM:608527 skos:exactMatch HGNC:21328 Unspecified NEU4 +OMIM:608527 skos:exactMatch UMLS:C1427488 Unspecified NEU4 +OMIM:608527 skos:exactMatch HGNC_symbol:NEU4 Unspecified NEU4 +OMIM:608526 skos:exactMatch UMLS:C1969478 Unspecified periodontitis, aggressive, 2 +OMIM:271250 skos:exactMatch UMLS:C1849094 Unspecified spinocerebellar ataxia, autosomal recessive 3 +OMIM:535000 skos:exactMatch UMLS:C0917796 Unspecified leber optic atrophy +OMIM:151410 skos:exactMatch UMLS:C0812385 Unspecified BCR +OMIM:151410 skos:exactMatch HGNC:1014 Unspecified BCR +OMIM:151410 skos:exactMatch HGNC_symbol:BCR Unspecified BCR +OMIM:608532 skos:exactMatch HGNC_symbol:NCAPG2 Unspecified NCAPG2 +OMIM:608532 skos:exactMatch UMLS:C1826383 Unspecified NCAPG2 +OMIM:608532 skos:exactMatch HGNC:21904 Unspecified NCAPG2 +OMIM:608531 skos:exactMatch HGNC:15504 Unspecified BTBD2 +OMIM:608531 skos:exactMatch UMLS:C1423535 Unspecified BTBD2 +OMIM:608531 skos:exactMatch HGNC_symbol:BTBD2 Unspecified BTBD2 +OMIM:608530 skos:exactMatch UMLS:C1412832 Unspecified BTBD1 +OMIM:608530 skos:exactMatch HGNC_symbol:BTBD1 Unspecified BTBD1 +OMIM:608530 skos:exactMatch HGNC:1120 Unspecified BTBD1 +OMIM:138450 skos:exactMatch UMLS:C1420040 Unspecified SHMT2 +OMIM:138450 skos:exactMatch UMLS:C5436848 Unspecified SHMT2 +OMIM:138450 skos:exactMatch HGNC_symbol:SHMT2 Unspecified SHMT2 +OMIM:138450 skos:exactMatch HGNC:10852 Unspecified SHMT2 +OMIM:608536 skos:exactMatch HGNC:14880 Unspecified GTPBP3 +OMIM:608536 skos:exactMatch UMLS:C1423020 Unspecified GTPBP3 +OMIM:608536 skos:exactMatch HGNC_symbol:GTPBP3 Unspecified GTPBP3 +OMIM:608535 skos:exactMatch HGNC:24026 Unspecified ACTRT2 +OMIM:608535 skos:exactMatch UMLS:C1826405 Unspecified ACTRT2 +OMIM:608535 skos:exactMatch HGNC_symbol:ACTRT2 Unspecified ACTRT2 +OMIM:102400 skos:exactMatch UMLS:C0917990 Unspecified acroosteolysis +OMIM:608534 skos:exactMatch HGNC:24022 Unspecified None +OMIM:608534 skos:exactMatch UMLS:C1837928 Unspecified None +OMIM:608534 skos:exactMatch HGNC_symbol:ACTRT3 Unspecified None +OMIM:608533 skos:exactMatch HGNC:28844 Unspecified FBXO38 +OMIM:608533 skos:exactMatch UMLS:C1539492 Unspecified FBXO38 +OMIM:608533 skos:exactMatch HGNC_symbol:FBXO38 Unspecified FBXO38 +OMIM:608518 skos:exactMatch UMLS:C0796100 Unspecified orofaciodigital syndrome 7 +OMIM:608517 skos:exactMatch UMLS:C1428017 Unspecified MYPN +OMIM:608517 skos:exactMatch HGNC_symbol:MYPN Unspecified MYPN +OMIM:608517 skos:exactMatch HGNC:23246 Unspecified MYPN +OMIM:608516 skos:exactMatch UMLS:C1269683 Unspecified major depressive disorder +OMIM:608516 skos:exactMatch UMLS:C0085159 Unspecified major depressive disorder +OMIM:271245 skos:exactMatch UMLS:C1849096 Unspecified mitochondrial DNA depletion syndrome 7 (hepatocerebral type) +OMIM:608515 skos:exactMatch HGNC:7661 Unspecified NCF2 +OMIM:608515 skos:exactMatch UMLS:C1856245 Unspecified NCF2 +OMIM:608515 skos:exactMatch HGNC_symbol:NCF2 Unspecified NCF2 +OMIM:608515 skos:exactMatch UMLS:C1417609 Unspecified NCF2 +OMIM:608519 skos:exactMatch HGNC_symbol:FBXO16 Unspecified FBXO16 +OMIM:608519 skos:exactMatch HGNC:13618 Unspecified FBXO16 +OMIM:608519 skos:exactMatch UMLS:C1422109 Unspecified FBXO16 +OMIM:608521 skos:exactMatch HGNC:17955 Unspecified LAMTOR5 +OMIM:608521 skos:exactMatch UMLS:C1425201 Unspecified LAMTOR5 +OMIM:608521 skos:exactMatch HGNC_symbol:LAMTOR5 Unspecified LAMTOR5 +OMIM:608520 skos:exactMatch UMLS:C1837929 Unspecified major depressive disorder 1 +OMIM:608525 skos:exactMatch UMLS:C1426232 Unspecified ING5 +OMIM:608525 skos:exactMatch HGNC_symbol:ING5 Unspecified ING5 +OMIM:608525 skos:exactMatch HGNC:19421 Unspecified ING5 +OMIM:608524 skos:exactMatch UMLS:C1426234 Unspecified ING4 +OMIM:608524 skos:exactMatch HGNC_symbol:ING4 Unspecified ING4 +OMIM:608524 skos:exactMatch HGNC:19423 Unspecified ING4 +OMIM:608523 skos:exactMatch HGNC:20348 Unspecified DIO3OS +OMIM:608523 skos:exactMatch UMLS:C1426882 Unspecified DIO3OS +OMIM:608523 skos:exactMatch HGNC_symbol:DIO3OS Unspecified DIO3OS +OMIM:608522 skos:exactMatch UMLS:C1425324 Unspecified HBXAP +OMIM:608522 skos:exactMatch HGNC_symbol:RSF1 Unspecified HBXAP +OMIM:608522 skos:exactMatch HGNC:18118 Unspecified HBXAP +OMIM:608507 skos:exactMatch HGNC_symbol:MFN2 Unspecified MFN2 +OMIM:608507 skos:exactMatch HGNC:16877 Unspecified MFN2 +OMIM:608507 skos:exactMatch UMLS:C0393807 Unspecified MFN2 +OMIM:608507 skos:exactMatch UMLS:C4310725 Unspecified MFN2 +OMIM:608507 skos:exactMatch UMLS:C1424611 Unspecified MFN2 +OMIM:608507 skos:exactMatch UMLS:C4310875 Unspecified MFN2 +OMIM:608506 skos:exactMatch HGNC:18262 Unspecified MFN1 +OMIM:608506 skos:exactMatch HGNC_symbol:MFN1 Unspecified MFN1 +OMIM:608506 skos:exactMatch UMLS:C1425402 Unspecified MFN1 +OMIM:608504 skos:exactMatch HGNC:15590 Unspecified ARHGEF15 +OMIM:608504 skos:exactMatch HGNC_symbol:ARHGEF15 Unspecified ARHGEF15 +OMIM:608504 skos:exactMatch UMLS:C1423600 Unspecified ARHGEF15 +OMIM:163400 skos:exactMatch UMLS:C0432231 Unspecified nievergelt syndrome +OMIM:608509 skos:exactMatch UMLS:C1837946 Unspecified alopecia universalis congenita, 10y gonadal dysgenesis, and laryngomalacia +OMIM:608508 skos:exactMatch HGNC_symbol:CYBA Unspecified CYBA +OMIM:608508 skos:exactMatch HGNC:2577 Unspecified CYBA +OMIM:608508 skos:exactMatch UMLS:C1413843 Unspecified CYBA +OMIM:608508 skos:exactMatch UMLS:C4017159 Unspecified CYBA +OMIM:608508 skos:exactMatch UMLS:C1856255 Unspecified CYBA +OMIM:151430 skos:exactMatch UMLS:C0376515 Unspecified BCL2 +OMIM:151430 skos:exactMatch UMLS:C3887918 Unspecified BCL2 +OMIM:151430 skos:exactMatch HGNC:990 Unspecified BCL2 +OMIM:151430 skos:exactMatch HGNC_symbol:BCL2 Unspecified BCL2 +OMIM:608510 skos:exactMatch HGNC_symbol:SH2D1B Unspecified SH2D1B +OMIM:608510 skos:exactMatch UMLS:C1822706 Unspecified SH2D1B +OMIM:608510 skos:exactMatch HGNC:30416 Unspecified SH2D1B +OMIM:138470 skos:exactMatch HGNC:1037 Unspecified CFB +OMIM:138470 skos:exactMatch HGNC_symbol:CFB Unspecified CFB +OMIM:138470 skos:exactMatch UMLS:C1824728 Unspecified CFB +OMIM:608514 skos:exactMatch HGNC:21607 Unspecified AIG1 +OMIM:608514 skos:exactMatch UMLS:C1427643 Unspecified AIG1 +OMIM:608514 skos:exactMatch HGNC_symbol:AIG1 Unspecified AIG1 +OMIM:608513 skos:exactMatch UMLS:C1426137 Unspecified RPPH1 +OMIM:608513 skos:exactMatch HGNC:19273 Unspecified RPPH1 +OMIM:608513 skos:exactMatch HGNC_symbol:RPPH1 Unspecified RPPH1 +OMIM:608512 skos:exactMatch HGNC:7660 Unspecified NCF1 +OMIM:608512 skos:exactMatch UMLS:C1856251 Unspecified NCF1 +OMIM:608512 skos:exactMatch HGNC_symbol:NCF1 Unspecified NCF1 +OMIM:608512 skos:exactMatch UMLS:C1417608 Unspecified NCF1 +OMIM:608511 skos:exactMatch HGNC:16865 Unspecified PHYHIP +OMIM:608511 skos:exactMatch UMLS:C1424604 Unspecified PHYHIP +OMIM:608511 skos:exactMatch HGNC_symbol:PHYHIP Unspecified PHYHIP +OMIM:187400 skos:exactMatch UMLS:C0037856 Unspecified testicular torsion +OMIM:307500 skos:exactMatch UMLS:C1843994 Unspecified hypogonadism, male, with mental retardation and skeletal anomalies +OMIM:234280 skos:exactMatch UMLS:C1856197 Unspecified hallux varus and preaxial polysyndactyly +OMIM:271220 skos:exactMatch UMLS:C0751335 Unspecified spinal muscular atrophy, scapuloperoneal +OMIM:151445 skos:exactMatch HGNC_symbol:FCER2 Unspecified FCER2 +OMIM:151445 skos:exactMatch HGNC:3612 Unspecified FCER2 +OMIM:151445 skos:exactMatch UMLS:C1414549 Unspecified FCER2 +OMIM:608583 skos:exactMatch UMLS:C1843687 Unspecified atrial fibrillation, familial, 1 +OMIM:151442 skos:exactMatch HGNC_symbol:STMN1 Unspecified STMN1 +OMIM:151442 skos:exactMatch HGNC:6510 Unspecified STMN1 +OMIM:151442 skos:exactMatch UMLS:C1416797 Unspecified STMN1 +OMIM:608582 skos:exactMatch UMLS:C1427021 Unspecified EGFL7 +OMIM:608582 skos:exactMatch HGNC:20594 Unspecified EGFL7 +OMIM:608582 skos:exactMatch HGNC_symbol:EGFL7 Unspecified EGFL7 +OMIM:151443 skos:exactMatch UMLS:C1334339 Unspecified LIFR +OMIM:151443 skos:exactMatch HGNC:6597 Unspecified LIFR +OMIM:151443 skos:exactMatch HGNC_symbol:LIFR Unspecified LIFR +OMIM:608581 skos:exactMatch HGNC_symbol:RP1L1 Unspecified RP1L1 +OMIM:608581 skos:exactMatch UMLS:C3150833 Unspecified RP1L1 +OMIM:608581 skos:exactMatch UMLS:C2986382 Unspecified RP1L1 +OMIM:608581 skos:exactMatch HGNC:15946 Unspecified RP1L1 +OMIM:608581 skos:exactMatch UMLS:C4017164 Unspecified RP1L1 +OMIM:608581 skos:exactMatch UMLS:C5394208 Unspecified RP1L1 +OMIM:608581 skos:exactMatch UMLS:C1423850 Unspecified RP1L1 +OMIM:151440 skos:exactMatch HGNC:6734 Unspecified LYL1 +OMIM:151440 skos:exactMatch HGNC_symbol:LYL1 Unspecified LYL1 +OMIM:151440 skos:exactMatch UMLS:C1334354 Unspecified LYL1 +OMIM:608580 skos:exactMatch HGNC_symbol:MYH16 Unspecified myosin, heavy chain 16, skeletal muscle, pseudogene +OMIM:608580 skos:exactMatch HGNC:31038 Unspecified myosin, heavy chain 16, skeletal muscle, pseudogene +OMIM:608580 skos:exactMatch UMLS:C3888012 Unspecified myosin, heavy chain 16, skeletal muscle, pseudogene +OMIM:151441 skos:exactMatch UMLS:C1412765 Unspecified BCL5 +OMIM:608587 skos:exactMatch HGNC:24438 Unspecified GHDC +OMIM:608587 skos:exactMatch HGNC_symbol:GHDC Unspecified GHDC +OMIM:608587 skos:exactMatch UMLS:C1825345 Unspecified GHDC +OMIM:608586 skos:exactMatch UMLS:C1837809 Unspecified keratoconus 3 +OMIM:608585 skos:exactMatch UMLS:C1837810 Unspecified brachial palsy, familial congenital +OMIM:608584 skos:exactMatch UMLS:C1837811 Unspecified asthma-related traits, susceptibility to, 2 +OMIM:608589 skos:exactMatch HGNC:18430 Unspecified SLAMF9 +OMIM:608589 skos:exactMatch HGNC_symbol:SLAMF9 Unspecified SLAMF9 +OMIM:608589 skos:exactMatch UMLS:C1425511 Unspecified SLAMF9 +OMIM:138480 skos:exactMatch UMLS:C1822742 Unspecified SLC25A32 +OMIM:138480 skos:exactMatch HGNC_symbol:SLC25A32 Unspecified SLC25A32 +OMIM:138480 skos:exactMatch UMLS:C4225187 Unspecified SLC25A32 +OMIM:138480 skos:exactMatch HGNC:29683 Unspecified SLC25A32 +OMIM:608588 skos:exactMatch HGNC_symbol:DHX58 Unspecified DHX58 +OMIM:608588 skos:exactMatch HGNC:29517 Unspecified DHX58 +OMIM:608588 skos:exactMatch UMLS:C1837808 Unspecified DHX58 +OMIM:187410 skos:exactMatch HGNC:2983 Unspecified DNTT +OMIM:187410 skos:exactMatch HGNC_symbol:DNTT Unspecified DNTT +OMIM:187410 skos:exactMatch UMLS:C1333243 Unspecified DNTT +OMIM:608572 skos:exactMatch UMLS:C1837822 Unspecified burn-mckeown syndrome +OMIM:608572 skos:exactMatch UMLS:C1835913 Unspecified burn-mckeown syndrome +OMIM:608571 skos:exactMatch UMLS:C1837830 Unspecified ulnar/fibular ray defect and brachydactyly +OMIM:175400 skos:exactMatch UMLS:C1868006 Unspecified polyposis, intestinal, scattered and discrete +OMIM:608570 skos:exactMatch HGNC_symbol:AHNAK2 Unspecified AHNAK2 +OMIM:608570 skos:exactMatch HGNC:20125 Unspecified AHNAK2 +OMIM:608570 skos:exactMatch UMLS:C1426709 Unspecified AHNAK2 +OMIM:608576 skos:exactMatch HGNC_symbol:GRHL2 Unspecified GRHL2 +OMIM:608576 skos:exactMatch HGNC:2799 Unspecified GRHL2 +OMIM:608576 skos:exactMatch UMLS:C1837820 Unspecified GRHL2 +OMIM:608575 skos:exactMatch UMLS:C1422637 Unspecified RDH8 +OMIM:608575 skos:exactMatch HGNC_symbol:RDH8 Unspecified RDH8 +OMIM:608575 skos:exactMatch HGNC:14423 Unspecified RDH8 +OMIM:138492 skos:exactMatch HGNC:4329 Unspecified GLRB +OMIM:138492 skos:exactMatch HGNC_symbol:GLRB Unspecified GLRB +OMIM:138492 skos:exactMatch UMLS:C1415110 Unspecified GLRB +OMIM:151450 skos:exactMatch UMLS:C1835410 Unspecified leukocyte antigen group five +OMIM:608574 skos:exactMatch HGNC:18071 Unspecified EMSY +OMIM:608574 skos:exactMatch HGNC_symbol:EMSY Unspecified EMSY +OMIM:608574 skos:exactMatch UMLS:C1425282 Unspecified EMSY +OMIM:608579 skos:exactMatch UMLS:C3277286 Unspecified severe cutaneous adverse reaction, susceptibility to +OMIM:608579 skos:exactMatch UMLS:C1837818 Unspecified severe cutaneous adverse reaction, susceptibility to +OMIM:608579 skos:exactMatch UMLS:C1840548 Unspecified severe cutaneous adverse reaction, susceptibility to +OMIM:608579 skos:exactMatch UMLS:C2608081 Unspecified severe cutaneous adverse reaction, susceptibility to +OMIM:138491 skos:exactMatch HGNC:4326 Unspecified GLRA1 +OMIM:138491 skos:exactMatch UMLS:C1415107 Unspecified GLRA1 +OMIM:138491 skos:exactMatch HGNC_symbol:GLRA1 Unspecified GLRA1 +OMIM:608577 skos:exactMatch UMLS:C1538463 Unspecified CHURC1 +OMIM:608577 skos:exactMatch HGNC:20099 Unspecified CHURC1 +OMIM:608577 skos:exactMatch HGNC_symbol:CHURC1 Unspecified CHURC1 +OMIM:608559 skos:exactMatch UMLS:C1837869 Unspecified body mass index quantitative trait locus 6 +OMIM:271200 skos:exactMatch UMLS:C1849102 Unspecified spinal muscular atrophy, ryukyuan iia +OMIM:608561 skos:exactMatch HGNC:18629 Unspecified STAB2 +OMIM:608561 skos:exactMatch HGNC_symbol:STAB2 Unspecified STAB2 +OMIM:608561 skos:exactMatch UMLS:C1425660 Unspecified STAB2 +OMIM:608560 skos:exactMatch HGNC:18628 Unspecified STAB1 +OMIM:608560 skos:exactMatch HGNC_symbol:STAB1 Unspecified STAB1 +OMIM:608560 skos:exactMatch UMLS:C1425659 Unspecified STAB1 +OMIM:151460 skos:exactMatch HGNC_symbol:PTPRC Unspecified PTPRC +OMIM:151460 skos:exactMatch UMLS:C1335285 Unspecified PTPRC +OMIM:151460 skos:exactMatch HGNC:9666 Unspecified PTPRC +OMIM:608565 skos:exactMatch UMLS:C1837857 Unspecified deafness, autosomal recessive 35 +OMIM:608564 skos:exactMatch UMLS:C1333677 Unspecified GIT2 +OMIM:608564 skos:exactMatch HGNC:4273 Unspecified GIT2 +OMIM:608564 skos:exactMatch HGNC_symbol:GIT2 Unspecified GIT2 +OMIM:608562 skos:exactMatch UMLS:C1837868 Unspecified polydactyly, postaxial, iia a4 +OMIM:608569 skos:exactMatch ORPHA:154 Unspecified cardiomyopathy, dilated, 1o +OMIM:608569 skos:exactMatch UMLS:C1837839 Unspecified cardiomyopathy, dilated, 1o +OMIM:608568 skos:exactMatch HGNC:23212 Unspecified MYH14 +OMIM:608568 skos:exactMatch HGNC_symbol:MYH14 Unspecified MYH14 +OMIM:608568 skos:exactMatch UMLS:C1427991 Unspecified MYH14 +OMIM:608567 skos:exactMatch UMLS:C1837845 Unspecified sick sinus syndrome 1 +OMIM:608566 skos:exactMatch UMLS:C1423085 Unspecified MUC15 +OMIM:608566 skos:exactMatch HGNC:14956 Unspecified MUC15 +OMIM:608566 skos:exactMatch HGNC_symbol:MUC15 Unspecified MUC15 +OMIM:608549 skos:exactMatch HGNC:14583 Unspecified VPS11 +OMIM:608549 skos:exactMatch UMLS:C1422772 Unspecified VPS11 +OMIM:608549 skos:exactMatch HGNC_symbol:VPS11 Unspecified VPS11 +OMIM:608548 skos:exactMatch HGNC:19194 Unspecified HMCN1 +OMIM:608548 skos:exactMatch HGNC_symbol:HMCN1 Unspecified HMCN1 +OMIM:608548 skos:exactMatch UMLS:C1837877 Unspecified HMCN1 +OMIM:608550 skos:exactMatch UMLS:C1422773 Unspecified VPS16 +OMIM:608550 skos:exactMatch HGNC_symbol:VPS16 Unspecified VPS16 +OMIM:608550 skos:exactMatch HGNC:14584 Unspecified VPS16 +OMIM:608554 skos:exactMatch UMLS:C1826459 Unspecified NPAS4 +OMIM:608554 skos:exactMatch HGNC:18983 Unspecified NPAS4 +OMIM:608554 skos:exactMatch HGNC_symbol:NPAS4 Unspecified NPAS4 +OMIM:608553 skos:exactMatch UMLS:C1837873 Unspecified leber congenital amaurosis 9 +OMIM:608552 skos:exactMatch HGNC:12712 Unspecified VPS33B +OMIM:608552 skos:exactMatch UMLS:C1421465 Unspecified VPS33B +OMIM:608552 skos:exactMatch HGNC_symbol:VPS33B Unspecified VPS33B +OMIM:608551 skos:exactMatch UMLS:C1423875 Unspecified VPS18 +OMIM:608551 skos:exactMatch HGNC_symbol:VPS18 Unspecified VPS18 +OMIM:608551 skos:exactMatch HGNC:15972 Unspecified VPS18 +OMIM:608558 skos:exactMatch UMLS:C1837870 Unspecified body mass index quantitative trait locus 5 +OMIM:608557 skos:exactMatch UMLS:C1837871 Unspecified myocardial infarction, susceptibility to, 2 +OMIM:608556 skos:exactMatch UMLS:C1837872 Unspecified legionnaire disease, susceptibility to +OMIM:608555 skos:exactMatch HGNC_symbol:MTX2 Unspecified MTX2 +OMIM:608555 skos:exactMatch HGNC:7506 Unspecified MTX2 +OMIM:608555 skos:exactMatch UMLS:C1417489 Unspecified MTX2 +OMIM:608555 skos:exactMatch UMLS:C5436867 Unspecified MTX2 +OMIM:258200 skos:exactMatch UMLS:C1850320 Unspecified Oliver syndrome +OMIM:175450 skos:exactMatch UMLS:C1868005 Unspecified polyposis, intestinal, with multiple exostoses +OMIM:246200 skos:exactMatch UMLS:C0271689 Unspecified donohue syndrome +OMIM:246200 skos:exactMatch UMLS:C0265344 Unspecified donohue syndrome +OMIM:560000 skos:exactMatch UMLS:C3151959 Unspecified renal tubulopathy, diabetes mellitus, and cerebellar ataxia +OMIM:234250 skos:exactMatch UMLS:C1856198 Unspecified hall-riggs mental retardation syndrome +OMIM:187430 skos:exactMatch HGNC_symbol:CRISP2 Unspecified CRISP2 +OMIM:187430 skos:exactMatch UMLS:C1420884 Unspecified CRISP2 +OMIM:187430 skos:exactMatch HGNC:12024 Unspecified CRISP2 +OMIM:608594 skos:exactMatch UMLS:C1720862 Unspecified lipodystrophy, congenital generalized, iia 1 +OMIM:608593 skos:exactMatch HGNC_symbol:CFHR5 Unspecified CFHR5 +OMIM:608593 skos:exactMatch UMLS:C1538446 Unspecified CFHR5 +OMIM:608593 skos:exactMatch HGNC:24668 Unspecified CFHR5 +OMIM:608592 skos:exactMatch HGNC_symbol:CTDSPL Unspecified CTDSPL +OMIM:608592 skos:exactMatch HGNC:16890 Unspecified CTDSPL +OMIM:608592 skos:exactMatch UMLS:C1424618 Unspecified CTDSPL +OMIM:608598 skos:exactMatch HGNC:22933 Unspecified CASC2 +OMIM:608598 skos:exactMatch HGNC_symbol:CASC2 Unspecified CASC2 +OMIM:608598 skos:exactMatch UMLS:C1427789 Unspecified CASC2 +OMIM:608597 skos:exactMatch HGNC:16156 Unspecified NEURL2 +OMIM:608597 skos:exactMatch UMLS:C1424033 Unspecified NEURL2 +OMIM:608597 skos:exactMatch HGNC_symbol:NEURL2 Unspecified NEURL2 +OMIM:608596 skos:exactMatch HGNC:22128 Unspecified NPSRAS1 +OMIM:608596 skos:exactMatch UMLS:C1837789 Unspecified NPSRAS1 +OMIM:608596 skos:exactMatch HGNC_symbol:NPSR1-AS1 Unspecified NPSRAS1 +OMIM:608595 skos:exactMatch HGNC:23631 Unspecified NPSR1 +OMIM:608595 skos:exactMatch UMLS:C1837790 Unspecified NPSR1 +OMIM:608595 skos:exactMatch HGNC_symbol:NPSR1 Unspecified NPSR1 +OMIM:608599 skos:exactMatch UMLS:C1538765 Unspecified RAB11FIP2 +OMIM:608599 skos:exactMatch HGNC:29152 Unspecified RAB11FIP2 +OMIM:608599 skos:exactMatch HGNC_symbol:RAB11FIP2 Unspecified RAB11FIP2 +OMIM:187360 skos:exactMatch UMLS:C0039483 Unspecified temporal arteritis +OMIM:187360 skos:exactMatch UMLS:C1956391 Unspecified temporal arteritis +OMIM:273800 skos:exactMatch UMLS:C0040015 Unspecified glanzmann thrombasthenia 1 +OMIM:187370 skos:exactMatch UMLS:C1861238 Unspecified arthrogryposis, distal, iia 10 +OMIM:212890 skos:exactMatch UMLS:C1859303 Unspecified cerebellar ataxia, benign, with thermoanalgesia +OMIM:212895 skos:exactMatch UMLS:C0393520 Unspecified cerebellar ataxia, early-onset, with retained tendon reflexes +OMIM:187340 skos:exactMatch UMLS:C1861242 Unspecified temperature-sensitive lethal mutation +OMIM:261800 skos:exactMatch UMLS:C0031900 Unspecified pierre robin syndrome +OMIM:190990 skos:exactMatch UMLS:C1420873 Unspecified TPM2 +OMIM:190990 skos:exactMatch HGNC_symbol:TPM2 Unspecified TPM2 +OMIM:190990 skos:exactMatch HGNC:12011 Unspecified TPM2 +OMIM:187350 skos:exactMatch UMLS:C0423113 Unspecified telecanthus +OMIM:210250 skos:exactMatch UMLS:C5231390 Unspecified sitosterolemia 1 +OMIM:210250 skos:exactMatch ORPHA:2882 Unspecified sitosterolemia 1 +OMIM:210250 skos:exactMatch UMLS:C0342907 Unspecified sitosterolemia 1 +OMIM:210250 skos:exactMatch ORPHA:101022 Unspecified sitosterolemia 1 +OMIM:234200 skos:exactMatch ORPHA:216866 Unspecified neurodegeneration with brain iron accumulation 1 +OMIM:234200 skos:exactMatch ORPHA:216873 Unspecified neurodegeneration with brain iron accumulation 1 +OMIM:234200 skos:exactMatch UMLS:C0018523 Unspecified neurodegeneration with brain iron accumulation 1 +OMIM:234200 skos:exactMatch ORPHA:157850 Unspecified neurodegeneration with brain iron accumulation 1 +OMIM:248800 skos:exactMatch UMLS:C0024814 Unspecified marinesco-sjogren syndrome +OMIM:248800 skos:exactMatch ORPHA:559 Unspecified marinesco-sjogren syndrome +OMIM:212840 skos:exactMatch UMLS:C1859305 Unspecified gordon holmes syndrome +OMIM:236800 skos:exactMatch ORPHA:79155 Unspecified hydroxykynureninuria +OMIM:236800 skos:exactMatch UMLS:C0268474 Unspecified hydroxykynureninuria +OMIM:212850 skos:exactMatch UMLS:C1859304 Unspecified cerebellar ataxia and neurosensory deafness +OMIM:187380 skos:exactMatch UMLS:C1336642 Unspecified TNC +OMIM:187380 skos:exactMatch HGNC_symbol:TNC Unspecified TNC +OMIM:187380 skos:exactMatch HGNC:5318 Unspecified TNC +OMIM:187390 skos:exactMatch UMLS:C1861237 Unspecified tendons, extensor, of fingers, anomalous insertion of +OMIM:210200 skos:exactMatch UMLS:C0268600 Unspecified 3-methylcrotonyl-coa carboxylase 1 deficiency +OMIM:187395 skos:exactMatch HGNC:11701 Unspecified TDGF1 +OMIM:187395 skos:exactMatch UMLS:C1420667 Unspecified TDGF1 +OMIM:187395 skos:exactMatch HGNC_symbol:TDGF1 Unspecified TDGF1 +OMIM:187395 skos:exactMatch UMLS:C1861235 Unspecified TDGF1 +OMIM:210210 skos:exactMatch UMLS:C1859499 Unspecified 3-methylcrotonyl-coa carboxylase 2 deficiency +OMIM:212800 skos:exactMatch UMLS:C1859307 Unspecified cephalin lipidosis +OMIM:224800 skos:exactMatch UMLS:C1857068 Unspecified ectodermal dysplasia and neurosensory deafness +OMIM:126455 skos:exactMatch UMLS:C1420213 Unspecified SLC6A3 +OMIM:126455 skos:exactMatch HGNC_symbol:SLC6A3 Unspecified SLC6A3 +OMIM:126455 skos:exactMatch UMLS:C4747621 Unspecified SLC6A3 +OMIM:126455 skos:exactMatch UMLS:C4016025 Unspecified SLC6A3 +OMIM:126455 skos:exactMatch HGNC:11049 Unspecified SLC6A3 +OMIM:126453 skos:exactMatch HGNC:3026 Unspecified DRD5 +OMIM:126453 skos:exactMatch HGNC_symbol:DRD5 Unspecified DRD5 +OMIM:126453 skos:exactMatch UMLS:C1333255 Unspecified DRD5 +OMIM:126451 skos:exactMatch UMLS:C1414148 Unspecified DRD3 +OMIM:126451 skos:exactMatch HGNC_symbol:DRD3 Unspecified DRD3 +OMIM:126451 skos:exactMatch HGNC:3024 Unspecified DRD3 +OMIM:126452 skos:exactMatch HGNC:3025 Unspecified DRD4 +OMIM:126452 skos:exactMatch HGNC_symbol:DRD4 Unspecified DRD4 +OMIM:126452 skos:exactMatch UMLS:C1333254 Unspecified DRD4 +OMIM:212835 skos:exactMatch UMLS:C1859306 Unspecified cerebellar ataxia and ectodermal dysplasia +OMIM:114480 skos:exactMatch UMLS:C0346153 Unspecified breast cancer +OMIM:114480 skos:exactMatch ORPHA:227535 Unspecified breast cancer +OMIM:114480 skos:exactMatch UMLS:C0006142 Unspecified breast cancer +OMIM:102480 skos:exactMatch HGNC:126 Unspecified ACR +OMIM:102480 skos:exactMatch HGNC_symbol:ACR Unspecified ACR +OMIM:102480 skos:exactMatch UMLS:C1412134 Unspecified ACR +OMIM:126450 skos:exactMatch HGNC_symbol:DRD2 Unspecified DRD2 +OMIM:126450 skos:exactMatch UMLS:C1333253 Unspecified DRD2 +OMIM:126450 skos:exactMatch HGNC:3023 Unspecified DRD2 +OMIM:126449 skos:exactMatch UMLS:C1333250 Unspecified DRD1 +OMIM:126449 skos:exactMatch HGNC:3020 Unspecified DRD1 +OMIM:126449 skos:exactMatch HGNC_symbol:DRD1 Unspecified DRD1 +OMIM:114450 skos:exactMatch UMLS:C1861915 Unspecified cancer, familial, with 1n vitro radioresistance +OMIM:126431 skos:exactMatch HGNC:11990 Unspecified TOP2B +OMIM:126431 skos:exactMatch UMLS:C1336658 Unspecified TOP2B +OMIM:126431 skos:exactMatch HGNC_symbol:TOP2B Unspecified TOP2B +OMIM:126430 skos:exactMatch HGNC:11989 Unspecified TOP2A +OMIM:126430 skos:exactMatch UMLS:C1336657 Unspecified TOP2A +OMIM:126430 skos:exactMatch HGNC_symbol:TOP2A Unspecified TOP2A +OMIM:126420 skos:exactMatch HGNC:11986 Unspecified TOP1 +OMIM:126420 skos:exactMatch UMLS:C1852035 Unspecified TOP1 +OMIM:126420 skos:exactMatch UMLS:C1336656 Unspecified TOP1 +OMIM:126420 skos:exactMatch HGNC_symbol:TOP1 Unspecified TOP1 +OMIM:126410 skos:exactMatch UMLS:C1852038 Unspecified dna, satellite, alpha iia + diff --git a/omim.ttl b/omim.ttl index b0406a6..2ec6a97 100644 --- a/omim.ttl +++ b/omim.ttl @@ -1,10 +1,11 @@ @prefix CHR: . @prefix CL: . +@prefix HGNC: . @prefix HGNC_symbol: . @prefix IAO: . @prefix NCBIGene: . @prefix NCBITaxon: . -@prefix OMIM: . +@prefix OMIM: . @prefix OMIMPS: . @prefix ORPHA: . @prefix PMID: . @@ -18,17 +19,22 @@ @prefix skos: . @prefix xsd: . +NCBITaxon:9606 a owl:Class ; + rdfs:label "Homo sapiens" . + +oboInOwl:hasSynonymType a owl:AnnotationProperty . + OMIM:100050 a owl:Class ; rdfs:label "aarskog syndrome, autosomal dominant" ; IAO:0000142 PMID:6344635, PMID:6652957 ; - oboInOwl:hasDbXref UMLS:C3149220 ; - oboInOwl:hasExactSynonym "aarskog syndrome, autosomal dominant" . + oboInOwl:hasExactSynonym "aarskog syndrome, autosomal dominant" ; + skos:exactMatch UMLS:C3149220 . OMIM:100200 a owl:Class ; rdfs:label "abducens palsy" ; - oboInOwl:hasDbXref UMLS:C4551519 ; - oboInOwl:hasExactSynonym "abducens palsy" . + oboInOwl:hasExactSynonym "abducens palsy" ; + skos:exactMatch UMLS:C4551519 . OMIM:100500 a owl:Class ; IAO:0100001 OMIM:200150 ; @@ -42,8 +48,8 @@ OMIM:100600 a owl:Class ; PMID:5826935, PMID:6486848, PMID:7669619 ; - oboInOwl:hasDbXref UMLS:C0000889 ; oboInOwl:hasExactSynonym "acanthosis nigricans" ; + skos:exactMatch UMLS:C0000889 ; biolink:category biolink:Disease . OMIM:100640 a owl:Class ; @@ -58,7 +64,6 @@ OMIM:100640 a owl:Class ; PMID:3943866, PMID:6127541, PMID:6723659 ; - oboInOwl:hasDbXref UMLS:C1412333 ; oboInOwl:hasExactSynonym "ALDH1A1", "acetaldehyde dehydrogenase 1", "aldehyde dehydrogenase 1", @@ -67,7 +72,9 @@ OMIM:100640 a owl:Class ; "retinal dehydrogenase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:216 ; - skos:exactMatch HGNC_symbol:ALDH1A1 ; + skos:exactMatch UMLS:C1412333, + HGNC:402, + HGNC_symbol:ALDH1A1 ; biolink:category biolink:Gene . OMIM:100650 a owl:Class ; @@ -123,10 +130,6 @@ OMIM:100650 a owl:Class ; PMID:8903321, PMID:8929946 ; RO:0002525 CHR:9606chr12q24.12 ; - oboInOwl:hasDbXref UMLS:C1412335, - UMLS:C1863487, - UMLS:C2676227, - UMLS:C3149226 ; oboInOwl:hasExactSynonym "ALDH2", "acetaldehyde dehydrogenase 2", "aldehyde dehydrogenase 2", @@ -137,7 +140,12 @@ OMIM:100650 a owl:Class ; "sublingual nitroglycerin, susceptibility to poor response to" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:217 ; - skos:exactMatch HGNC_symbol:ALDH2 ; + skos:exactMatch UMLS:C1412335, + UMLS:C1863487, + UMLS:C2676227, + UMLS:C3149226, + HGNC:404, + HGNC_symbol:ALDH2 ; biolink:category biolink:Gene . OMIM:100660 a owl:Class ; @@ -149,7 +157,6 @@ OMIM:100660 a owl:Class ; PMID:7774944, PMID:9027499, PMID:9391071 ; - oboInOwl:hasDbXref UMLS:C1412336 ; oboInOwl:hasExactSynonym "ALDH3A1", "acetaldehyde dehydrogenase 3", "aldehyde dehydrogenase 3", @@ -157,7 +164,9 @@ OMIM:100660 a owl:Class ; "aldh, stomach iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:218 ; - skos:exactMatch HGNC_symbol:ALDH3A1 ; + skos:exactMatch UMLS:C1412336, + HGNC:405, + HGNC_symbol:ALDH3A1 ; biolink:category biolink:Gene . OMIM:100670 a owl:Class ; @@ -165,22 +174,23 @@ OMIM:100670 a owl:Class ; IAO:0000142 PMID:2061311, PMID:6985464, PMID:7774944 ; - oboInOwl:hasDbXref UMLS:C1412338 ; oboInOwl:hasExactSynonym "ALDH1B1", "acetaldehyde dehydrogenase 5", "aldehyde dehydrogenase 1 family, member b1", "aldehyde dehydrogenase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219 ; - skos:exactMatch HGNC_symbol:ALDH1B1 ; + skos:exactMatch UMLS:C1412338, + HGNC:407, + HGNC_symbol:ALDH1B1 ; biolink:category biolink:Gene . OMIM:100675 a owl:Class ; rdfs:label "acetaminophen metabolism" ; IAO:0000142 PMID:1302042, PMID:3829578 ; - oboInOwl:hasDbXref UMLS:C1863486 ; - oboInOwl:hasExactSynonym "acetaminophen metabolism" . + oboInOwl:hasExactSynonym "acetaminophen metabolism" ; + skos:exactMatch UMLS:C1863486 . OMIM:100678 a owl:Class ; rdfs:label "ACAT2" ; @@ -193,14 +203,15 @@ OMIM:100678 a owl:Class ; PMID:8812443 ; RO:0002525 CHR:9606chr6q25.3 ; RO:0003303 OMIM:614055 ; - oboInOwl:hasDbXref UMLS:C1412112 ; oboInOwl:hasExactSynonym "ACAT2", "acetoacetyl-coa thiolase, cytosolic", "acetocoenzyme a acetyltransferase 2", "acetyl-coa acetyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:39 ; - skos:exactMatch HGNC_symbol:ACAT2 ; + skos:exactMatch UMLS:C1412112, + HGNC:94, + HGNC_symbol:ACAT2 ; biolink:category biolink:Gene . OMIM:100680 a owl:Class ; @@ -239,22 +250,23 @@ OMIM:100690 a owl:Class ; PMID:9221765 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:608930 ; - oboInOwl:hasDbXref UMLS:C1413401 ; oboInOwl:hasExactSynonym "CHRNA1", "acetylcholine receptor, muscle, alpha subunit", "cholinergic receptor, nicotinic, alpha polypeptide 1", "chrna" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1134 ; - skos:exactMatch HGNC_symbol:CHRNA1 ; + skos:exactMatch UMLS:C1413401, + HGNC:1955, + HGNC_symbol:CHRNA1 ; biolink:category biolink:Gene . OMIM:100700 a owl:Class ; rdfs:label "achard syndrome" ; IAO:0000142 PMID:14430455, PMID:6082898 ; - oboInOwl:hasDbXref UMLS:C1332135 ; - oboInOwl:hasExactSynonym "achard syndrome" . + oboInOwl:hasExactSynonym "achard syndrome" ; + skos:exactMatch UMLS:C1332135 . OMIM:100710 a owl:Class ; rdfs:label "CHRNB1" ; @@ -268,14 +280,15 @@ OMIM:100710 a owl:Class ; PMID:8872460 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:616313 ; - oboInOwl:hasDbXref UMLS:C1413407 ; oboInOwl:hasExactSynonym "CHRNB1", "acetylcholine receptor, muscle, beta subunit", "cholinergic receptor, nicotinic, beta polypeptide 1", "chrnb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1140 ; - skos:exactMatch HGNC_symbol:CHRNB1 ; + skos:exactMatch UMLS:C1413407, + HGNC:1961, + HGNC_symbol:CHRNB1 ; biolink:category biolink:Gene . OMIM:100720 a owl:Class ; @@ -294,13 +307,14 @@ OMIM:100720 a owl:Class ; PMID:8872460 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:616322 ; - oboInOwl:hasDbXref UMLS:C1413411 ; oboInOwl:hasExactSynonym "CHRND", "acetylcholine receptor, muscle, delta subunit", "cholinergic receptor, nicotinic, delta polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1144 ; - skos:exactMatch HGNC_symbol:CHRND ; + skos:exactMatch UMLS:C1413411, + HGNC:1965, + HGNC_symbol:CHRND ; biolink:category biolink:Gene . OMIM:100725 a owl:Class ; @@ -341,13 +355,14 @@ OMIM:100725 a owl:Class ; PMID:9839364 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:608931 ; - oboInOwl:hasDbXref UMLS:C1413412 ; oboInOwl:hasExactSynonym "CHRNE", "acetylcholine receptor, muscle, epsilon subunit", "cholinergic receptor, nicotinic, epsilon polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1145 ; - skos:exactMatch HGNC_symbol:CHRNE ; + skos:exactMatch UMLS:C1413412, + HGNC:1966, + HGNC_symbol:CHRNE ; biolink:category biolink:Gene . OMIM:100730 a owl:Class ; @@ -366,13 +381,14 @@ OMIM:100730 a owl:Class ; PMID:8040310 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:253290 ; - oboInOwl:hasDbXref UMLS:C1413413 ; oboInOwl:hasExactSynonym "CHRNG", "acetylcholine receptor, muscle, gamma subunit", "cholinergic receptor, nicotinic, gamma polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1146 ; - skos:exactMatch HGNC_symbol:CHRNG ; + skos:exactMatch UMLS:C1413413, + HGNC:1967, + HGNC_symbol:CHRNG ; biolink:category biolink:Gene . OMIM:100735 a owl:Class ; @@ -399,7 +415,6 @@ OMIM:100790 a owl:Class ; PMID:8390674, PMID:8595908, PMID:8719343 ; - oboInOwl:hasDbXref UMLS:C1332009 ; oboInOwl:hasExactSynonym "ASCL1", "achaete-scute complex, drosophila, homolog of, 1", "achaete-scute family bhlh transcription factor 1", @@ -407,7 +422,9 @@ OMIM:100790 a owl:Class ; "mammalian achaete-scute homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:429 ; - skos:exactMatch HGNC_symbol:ASCL1 ; + skos:exactMatch UMLS:C1332009, + HGNC:738, + HGNC_symbol:ASCL1 ; biolink:category biolink:Gene . OMIM:100800 a owl:Class ; @@ -518,9 +535,9 @@ OMIM:100800 a owl:Class ; PMID:9326938, PMID:9733026, PMID:9797588 ; - oboInOwl:hasDbXref UMLS:C0001080 ; oboInOwl:hasExactSynonym "ACH", "achondroplasia" ; + skos:exactMatch UMLS:C0001080 ; biolink:category biolink:Disease . OMIM:100820 a owl:Class ; @@ -534,12 +551,12 @@ OMIM:100820 a owl:Class ; PMID:5804036, PMID:6674114, PMID:6694722 ; - oboInOwl:hasDbXref UMLS:C1863416 ; oboInOwl:hasExactSynonym "achoo syndrome", "autosomal dominant compelling helioophthalmic outburst syndrome", "peroutka sneeze", "photic sneeze reflex", "sneezing from light exposure" ; + skos:exactMatch UMLS:C1863416 ; biolink:category biolink:Disease . OMIM:100850 a owl:Class ; @@ -564,15 +581,16 @@ OMIM:100850 a owl:Class ; PMID:9630632 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:614559 ; - oboInOwl:hasDbXref UMLS:C1412127, - UMLS:C3281192, - UMLS:C4225384 ; oboInOwl:hasExactSynonym "ACO2", "aconitase, mitochondrial", "aconm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50 ; - skos:exactMatch HGNC_symbol:ACO2 ; + skos:exactMatch UMLS:C1412127, + UMLS:C3281192, + UMLS:C4225384, + HGNC:118, + HGNC_symbol:ACO2 ; biolink:category biolink:Gene . OMIM:100900 a owl:Class ; @@ -649,24 +667,24 @@ OMIM:101000 a owl:Class ; PMID:9811917, PMID:9811925, PMID:9863591 ; - oboInOwl:hasDbXref UMLS:C0027832, - UMLS:C1136042 ; oboInOwl:hasExactSynonym "NF2", "acoustic neurinoma, bilateral", "acoustic schwannomas, bilateral", "bilateral acoustic neurofibromatosis", "neurofibromatosis, iia 2", "neurofibromatosis, central iia" ; + skos:exactMatch UMLS:C0027832, + UMLS:C1136042 ; biolink:category biolink:Disease . OMIM:101120 a owl:Class ; rdfs:label "acrocephalopolysyndactyly iia 3" ; IAO:0000142 PMID:4253694 ; - oboInOwl:hasDbXref UMLS:C1275079 ; oboInOwl:hasExactSynonym "acps 3", "acps with leg hypoplasia", "acrocephalopolysyndactyly iia 3", - "sakati-nyhan syndrome" . + "sakati-nyhan syndrome" ; + skos:exactMatch UMLS:C1275079 . OMIM:101200 a owl:Class ; rdfs:label "apert syndrome" ; @@ -714,9 +732,6 @@ OMIM:101200 a owl:Class ; PMID:9502772, PMID:9664610, PMID:9973282 ; - oboInOwl:hasDbXref UMLS:C0001193, - UMLS:C1863389, - UMLS:C1863391 ; oboInOwl:hasExactSynonym "acrocephalosyndactyly, iia 1", "acrocephalosyndactyly, iia 2", "acs 1", @@ -724,6 +739,9 @@ OMIM:101200 a owl:Class ; "apert syndrome", "apert-crouzon disease", "vogt cephalodactyly" ; + skos:exactMatch UMLS:C0001193, + UMLS:C1863389, + UMLS:C1863391 ; biolink:category biolink:Disease . OMIM:101600 a owl:Class ; @@ -761,12 +779,12 @@ OMIM:101600 a owl:Class ; PMID:9475590, PMID:9475591, PMID:957376 ; - oboInOwl:hasDbXref UMLS:C0220658 ; oboInOwl:hasExactSynonym "acrocephalosyndactyly, iia 5", "acs 5", "craniofacial-skeletal-dermatologic dysplasia", "noack syndrome", "pfeiffer syndrome" ; + skos:exactMatch UMLS:C0220658 ; biolink:category biolink:Disease . OMIM:101800 a owl:Class ; @@ -785,11 +803,11 @@ OMIM:101800 a owl:Class ; PMID:6020652, PMID:669707, PMID:9039990 ; - oboInOwl:hasDbXref UMLS:C3276228 ; oboInOwl:hasExactSynonym "ACRDYS1", "acrodysostosis 1 with or without hormone resistance", "adohr" ; rdfs:subClassOf OMIMPS:101800 ; + skos:exactMatch UMLS:C3276228 ; biolink:category biolink:Disease . OMIM:101805 a owl:Class ; @@ -797,15 +815,15 @@ OMIM:101805 a owl:Class ; IAO:0000142 PMID:25945454, PMID:8266994, PMID:8826434 ; - oboInOwl:hasDbXref UMLS:C2931762 ; oboInOwl:hasExactSynonym "acrofacial dysostosis, catania iia", - "afd, catania iia" . + "afd, catania iia" ; + skos:exactMatch UMLS:C2931762 . OMIM:101840 a owl:Class ; rdfs:label "acrokeratoderma, hereditary papulotranslucent" ; IAO:0000142 PMID:4716729 ; - oboInOwl:hasDbXref UMLS:C1863343 ; - oboInOwl:hasExactSynonym "acrokeratoderma, hereditary papulotranslucent" . + oboInOwl:hasExactSynonym "acrokeratoderma, hereditary papulotranslucent" ; + skos:exactMatch UMLS:C1863343 . OMIM:101850 a owl:Class ; rdfs:label "palmoplantar keratoderma, punctate iia 3" ; @@ -817,35 +835,35 @@ OMIM:101850 a owl:Class ; PMID:8651714, PMID:9870680 ; RO:0002525 CHR:9606chr2p25-p12 ; - oboInOwl:hasDbXref UMLS:C0545044 ; oboInOwl:hasExactSynonym "PPKP3", "acrokeratoelastoidosis", "collagenous plaques of hands and feet", "palmoplantar keratoderma, punctate iia 3" ; + skos:exactMatch UMLS:C0545044 ; biolink:category biolink:Disease . OMIM:101900 a owl:Class ; rdfs:label "acrokeratosis verruciformis" ; IAO:0000142 PMID:12542527, PMID:20251558 ; - oboInOwl:hasDbXref UMLS:C0265971 ; oboInOwl:hasExactSynonym "AKV", "acrokeratosis verruciformis", "hopf disease" ; + skos:exactMatch UMLS:C0265971 ; biolink:category biolink:Disease . OMIM:102000 a owl:Class ; rdfs:label "acroleukopathy, symmetric" ; - oboInOwl:hasDbXref UMLS:C1863342 ; - oboInOwl:hasExactSynonym "acroleukopathy, symmetric" . + oboInOwl:hasExactSynonym "acroleukopathy, symmetric" ; + skos:exactMatch UMLS:C1863342 . OMIM:102100 a owl:Class ; rdfs:label "acromegaloid changes, cutis verticis gyrata, and corneal leukoma" ; IAO:0000142 PMID:13974983, PMID:5570364 ; - oboInOwl:hasDbXref UMLS:C1321495 ; oboInOwl:hasExactSynonym "acromegaloid changes, cutis verticis gyrata, and corneal leukoma", "rosenthal-kloepfer syndrome" ; + skos:exactMatch UMLS:C1321495 ; biolink:category biolink:Disease . OMIM:102150 a owl:Class ; @@ -853,10 +871,10 @@ OMIM:102150 a owl:Class ; IAO:0000142 PMID:15365463, PMID:1619638, PMID:3989825 ; - oboInOwl:hasDbXref UMLS:C0796280 ; oboInOwl:hasExactSynonym "acromegaloid facial appearance syndrome", "afa syndrome", "thick lips and oral mucosa" ; + skos:exactMatch UMLS:C0796280 ; biolink:category biolink:Disease . OMIM:102350 a owl:Class ; @@ -868,9 +886,9 @@ OMIM:102350 a owl:Class ; PMID:3610152, PMID:4381584, PMID:4827369 ; - oboInOwl:hasDbXref UMLS:C4023704 ; oboInOwl:hasExactSynonym "acromial dimples", "supraspinous fossae, congenital" ; + skos:exactMatch UMLS:C4023704 ; biolink:category biolink:Disease . OMIM:102370 a owl:Class ; @@ -879,17 +897,17 @@ OMIM:102370 a owl:Class ; PMID:21683322, PMID:26860060, PMID:3728563 ; - oboInOwl:hasDbXref UMLS:C0265287 ; oboInOwl:hasExactSynonym "ACMICD", "acromicric dysplasia" ; + skos:exactMatch UMLS:C0265287 ; biolink:category biolink:Disease . OMIM:102400 a owl:Class ; rdfs:label "acroosteolysis" ; IAO:0000142 PMID:14461884, PMID:6038365 ; - oboInOwl:hasDbXref UMLS:C0917990 ; - oboInOwl:hasExactSynonym "acroosteolysis" . + oboInOwl:hasExactSynonym "acroosteolysis" ; + skos:exactMatch UMLS:C0917990 . OMIM:102480 a owl:Class ; rdfs:label "ACR" ; @@ -903,14 +921,15 @@ OMIM:102480 a owl:Class ; PMID:7989357, PMID:9041140 ; RO:0002525 CHR:9606chr22q13.33 ; - oboInOwl:hasDbXref UMLS:C1412134 ; oboInOwl:hasExactSynonym "ACR", "acrosin", "preproacrosin", "proacrosin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:49 ; - skos:exactMatch HGNC_symbol:ACR ; + skos:exactMatch UMLS:C1412134, + HGNC:126, + HGNC_symbol:ACR ; biolink:category biolink:Gene . OMIM:102490 a owl:Class ; @@ -922,20 +941,21 @@ OMIM:102520 a owl:Class ; IAO:0000142 PMID:12784306, PMID:15316969, PMID:4402497 ; - oboInOwl:hasDbXref UMLS:C3495490 ; - oboInOwl:hasExactSynonym "acrorenal syndrome" . + oboInOwl:hasExactSynonym "acrorenal syndrome" ; + skos:exactMatch UMLS:C3495490 . OMIM:102525 a owl:Class ; rdfs:label "ACRV1" ; IAO:0000142 PMID:8288254, PMID:8373955 ; - oboInOwl:hasDbXref UMLS:C1412135 ; oboInOwl:hasExactSynonym "ACRV1", "acrosomal vesicle protein 1", "sp-10 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56 ; - skos:exactMatch HGNC_symbol:ACRV1 ; + skos:exactMatch UMLS:C1412135, + HGNC:127, + HGNC_symbol:ACRV1 ; biolink:category biolink:Gene . OMIM:102540 a owl:Class ; @@ -968,7 +988,6 @@ OMIM:102540 a owl:Class ; PMID:9563954 ; RO:0002525 CHR:9606chr15q14 ; RO:0003303 OMIM:613424 ; - oboInOwl:hasDbXref UMLS:C1825843 ; oboInOwl:hasExactSynonym "ACTC1", "actc", "actin, alpha", @@ -976,7 +995,9 @@ OMIM:102540 a owl:Class ; "smooth muscle actin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:70 ; - skos:exactMatch HGNC_symbol:ACTC1 ; + skos:exactMatch UMLS:C1825843, + HGNC:143, + HGNC_symbol:ACTC1 ; biolink:category biolink:Gene . OMIM:102545 a owl:Class ; @@ -991,7 +1012,6 @@ OMIM:102545 a owl:Class ; PMID:8530021 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:155310 ; - oboInOwl:hasDbXref UMLS:C1332010 ; oboInOwl:hasExactSynonym "ACTG2", "acte", "actin, alpha-3, formerly", @@ -999,7 +1019,9 @@ OMIM:102545 a owl:Class ; "actsg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:72 ; - skos:exactMatch HGNC_symbol:ACTG2 ; + skos:exactMatch UMLS:C1332010, + HGNC:145, + HGNC_symbol:ACTG2 ; biolink:category biolink:Gene . OMIM:102550 a owl:Class ; @@ -1029,7 +1051,6 @@ OMIM:102560 a owl:Class ; PMID:8941379 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:604717 ; - oboInOwl:hasDbXref UMLS:C1412149 ; oboInOwl:hasExactSynonym "ACTG1", "actin, cytoplasmic, 2", "actin, gamma", @@ -1037,7 +1058,9 @@ OMIM:102560 a owl:Class ; "cytoskeletal gamma-actin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:71 ; - skos:exactMatch HGNC_symbol:ACTG1 ; + skos:exactMatch UMLS:C1412149, + HGNC:144, + HGNC_symbol:ACTG1 ; biolink:category biolink:Gene . OMIM:102565 a owl:Class ; @@ -1060,7 +1083,6 @@ OMIM:102565 a owl:Class ; PMID:9791010 ; RO:0002525 CHR:9606chr7q32.1 ; RO:0003303 OMIM:609524 ; - oboInOwl:hasDbXref UMLS:C1414637 ; oboInOwl:hasExactSynonym "FLNC", "abpa", "actin-binding protein 280, autosomal form", @@ -1070,7 +1092,9 @@ OMIM:102565 a owl:Class ; "filamin, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2318 ; - skos:exactMatch HGNC_symbol:FLNC ; + skos:exactMatch UMLS:C1414637, + HGNC:3756, + HGNC_symbol:FLNC ; biolink:category biolink:Gene . OMIM:102570 a owl:Class ; @@ -1093,12 +1117,13 @@ OMIM:102573 a owl:Class ; PMID:30900782 ; RO:0002525 CHR:9606chr1q43 ; RO:0003303 OMIM:618655 ; - oboInOwl:hasDbXref UMLS:C1412166 ; oboInOwl:hasExactSynonym "ACTN2", "actinin, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:88 ; - skos:exactMatch HGNC_symbol:ACTN2 ; + skos:exactMatch UMLS:C1412166, + HGNC:164, + HGNC_symbol:ACTN2 ; biolink:category biolink:Gene . OMIM:102574 a owl:Class ; @@ -1120,12 +1145,13 @@ OMIM:102574 a owl:Class ; PMID:29706347 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:617749 ; - oboInOwl:hasDbXref UMLS:C1412167 ; oboInOwl:hasExactSynonym "ACTN3", "actinin, alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89 ; - skos:exactMatch HGNC_symbol:ACTN3 ; + skos:exactMatch UMLS:C1412167, + HGNC:165, + HGNC_symbol:ACTN3 ; biolink:category biolink:Gene . OMIM:102575 a owl:Class ; @@ -1135,12 +1161,13 @@ OMIM:102575 a owl:Class ; PMID:2349951 ; RO:0002525 CHR:9606chr14q24.1 ; RO:0003303 OMIM:615193 ; - oboInOwl:hasDbXref UMLS:C1412165 ; oboInOwl:hasExactSynonym "ACTN1", "actinin, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:87 ; - skos:exactMatch HGNC_symbol:ACTN1 ; + skos:exactMatch UMLS:C1412165, + HGNC:163, + HGNC_symbol:ACTN1 ; biolink:category biolink:Gene . OMIM:102579 a owl:Class ; @@ -1160,8 +1187,6 @@ OMIM:102579 a owl:Class ; PMID:8954124 ; RO:0002525 CHR:9606chr4p14 ; RO:0003303 OMIM:614575 ; - oboInOwl:hasDbXref UMLS:C1419348, - UMLS:C3281223 ; oboInOwl:hasExactSynonym "RFC1", "activator 1, 140-kd subunit", "replication factor c, 140-kd subunit", @@ -1169,7 +1194,10 @@ OMIM:102579 a owl:Class ; "rfc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5981 ; - skos:exactMatch HGNC_symbol:RFC1 ; + skos:exactMatch UMLS:C1419348, + UMLS:C3281223, + HGNC:9969, + HGNC_symbol:RFC1 ; biolink:category biolink:Gene . OMIM:102581 a owl:Class ; @@ -1183,13 +1211,14 @@ OMIM:102581 a owl:Class ; PMID:7821227, PMID:7885474, PMID:8243335 ; - oboInOwl:hasDbXref UMLS:C1706636 ; oboInOwl:hasExactSynonym "ACVR2A", "activin a receptor, iia 2a", "acvr2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92 ; - skos:exactMatch HGNC_symbol:ACVR2A ; + skos:exactMatch UMLS:C1706636, + HGNC:173, + HGNC_symbol:ACVR2A ; biolink:category biolink:Gene . OMIM:102590 a owl:Class ; @@ -1200,24 +1229,26 @@ OMIM:102593 a owl:Class ; rdfs:label "AOAH" ; IAO:0000142 PMID:1883828, PMID:8088847 ; - oboInOwl:hasDbXref UMLS:C1412429 ; oboInOwl:hasExactSynonym "AOAH", "acyloxyacyl hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:313 ; - skos:exactMatch HGNC_symbol:AOAH ; + skos:exactMatch UMLS:C1412429, + HGNC:548, + HGNC_symbol:AOAH ; biolink:category biolink:Gene . OMIM:102595 a owl:Class ; rdfs:label "ACYP2" ; IAO:0000142 PMID:8268218 ; - oboInOwl:hasDbXref UMLS:C1412176 ; oboInOwl:hasExactSynonym "ACYP2", "acylphosphatase 2, muscle iia", "acylphosphatase, muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:98 ; - skos:exactMatch HGNC_symbol:ACYP2 ; + skos:exactMatch UMLS:C1412176, + HGNC:180, + HGNC_symbol:ACYP2 ; biolink:category biolink:Gene . OMIM:102600 a owl:Class ; @@ -1259,12 +1290,13 @@ OMIM:102600 a owl:Class ; PMID:9521589 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:614723 ; - oboInOwl:hasDbXref UMLS:C1366623 ; oboInOwl:hasExactSynonym "APRT", "adenine phosphoribosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353 ; - skos:exactMatch HGNC_symbol:APRT ; + skos:exactMatch UMLS:C1366623, + HGNC:626, + HGNC_symbol:APRT ; biolink:category biolink:Gene . OMIM:102620 a owl:Class ; @@ -1288,17 +1320,18 @@ OMIM:102620 a owl:Class ; PMID:7780165 ; RO:0002525 CHR:9606chr10q23.31 ; RO:0003303 OMIM:613834 ; - oboInOwl:hasDbXref UMLS:C1412137, - UMLS:C2673186, - UMLS:C3151201, - UMLS:C3279690 ; oboInOwl:hasExactSynonym "ACTA2", "actin, alpha, smooth muscle, aortic", "actin, alpha-2, smooth muscle, aorta", "actin, vascular smooth muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59 ; - skos:exactMatch HGNC_symbol:ACTA2 ; + skos:exactMatch UMLS:C1412137, + UMLS:C2673186, + UMLS:C3151201, + UMLS:C3279690, + HGNC:130, + HGNC_symbol:ACTA2 ; biolink:category biolink:Gene . OMIM:102640 a owl:Class ; @@ -1320,7 +1353,6 @@ OMIM:102642 a owl:Class ; PMID:8650549, PMID:8943057, PMID:9422770 ; - oboInOwl:hasDbXref UMLS:C1420304 ; oboInOwl:hasExactSynonym "SOAT1", "acat1", "acyl-coa:cholesterol acyltransferase", @@ -1329,7 +1361,9 @@ OMIM:102642 a owl:Class ; "sterol o-acyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6646 ; - skos:exactMatch HGNC_symbol:SOAT1 ; + skos:exactMatch UMLS:C1420304, + HGNC:11177, + HGNC_symbol:SOAT1 ; biolink:category biolink:Gene . OMIM:102645 a owl:Class ; @@ -1344,7 +1378,6 @@ OMIM:102645 a owl:Class ; PMID:3010710, PMID:7273954, PMID:8020952 ; - oboInOwl:hasDbXref UMLS:C1332101 ; oboInOwl:hasExactSynonym "APEH", "acylaminoacyl-peptide hydrolase", "acylpeptide hydrolase", @@ -1352,22 +1385,24 @@ OMIM:102645 a owl:Class ; "n-acylaminoacylpeptide hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:327 ; - skos:exactMatch HGNC_symbol:APEH ; + skos:exactMatch UMLS:C1332101, + HGNC:586, + HGNC_symbol:APEH ; biolink:category biolink:Gene . OMIM:102650 a owl:Class ; rdfs:label "adactylia, unilateral" ; IAO:0000142 PMID:3725479 ; - oboInOwl:hasDbXref UMLS:C0220660 ; oboInOwl:hasExactSynonym "adactylia, unilateral", - "terminal transverse defects of hand, unilateral" . + "terminal transverse defects of hand, unilateral" ; + skos:exactMatch UMLS:C0220660 . OMIM:102660 a owl:Class ; rdfs:label "adamantinoma of long bones" ; IAO:0000142 PMID:2227936, PMID:2743266 ; - oboInOwl:hasDbXref UMLS:C0334556 ; - oboInOwl:hasExactSynonym "adamantinoma of long bones" . + oboInOwl:hasExactSynonym "adamantinoma of long bones" ; + skos:exactMatch UMLS:C0334556 . OMIM:102670 a owl:Class ; rdfs:label "MADCAM1" ; @@ -1376,14 +1411,15 @@ OMIM:102670 a owl:Class ; PMID:8609404, PMID:8989586, PMID:9162097 ; - oboInOwl:hasDbXref UMLS:C1416961 ; oboInOwl:hasExactSynonym "MADCAM1", "addressin, mucosal", "mucosal addressin cell adhesion molecule 1", "mucosal vascular addressin cell adhesion molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8174 ; - skos:exactMatch HGNC_symbol:MADCAM1 ; + skos:exactMatch UMLS:C1416961, + HGNC:6765, + HGNC_symbol:MADCAM1 ; biolink:category biolink:Gene . OMIM:102680 a owl:Class ; @@ -1412,13 +1448,14 @@ OMIM:102680 a owl:Class ; PMID:9607177 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1412230 ; oboInOwl:hasExactSynonym "ADD1", "adducin 1", "adducin, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118 ; - skos:exactMatch HGNC_symbol:ADD1 ; + skos:exactMatch UMLS:C1412230, + HGNC:243, + HGNC_symbol:ADD1 ; biolink:category biolink:Gene . OMIM:102681 a owl:Class ; @@ -1434,13 +1471,14 @@ OMIM:102681 a owl:Class ; PMID:8563174, PMID:8566798, PMID:9244430 ; - oboInOwl:hasDbXref UMLS:C1412231 ; oboInOwl:hasExactSynonym "ADD2", "adducin 2", "adducin, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119 ; - skos:exactMatch HGNC_symbol:ADD2 ; + skos:exactMatch UMLS:C1412231, + HGNC:244, + HGNC_symbol:ADD2 ; biolink:category biolink:Gene . OMIM:102710 a owl:Class ; @@ -1458,8 +1496,8 @@ OMIM:102730 a owl:Class ; PMID:7919352, PMID:8213817, PMID:836588 ; - oboInOwl:hasDbXref UMLS:C1863235 ; - oboInOwl:hasExactSynonym "adenosine deaminase, elevated, hemolytic anemia due to" . + oboInOwl:hasExactSynonym "adenosine deaminase, elevated, hemolytic anemia due to" ; + skos:exactMatch UMLS:C1863235 . OMIM:102750 a owl:Class ; rdfs:label "ADK" ; @@ -1473,12 +1511,13 @@ OMIM:102750 a owl:Class ; PMID:9070863 ; RO:0002525 CHR:9606chr10q22.2 ; RO:0003303 OMIM:614300 ; - oboInOwl:hasDbXref UMLS:C1412243 ; oboInOwl:hasExactSynonym "ADK", "adenosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132 ; - skos:exactMatch HGNC_symbol:ADK ; + skos:exactMatch UMLS:C1412243, + HGNC:257, + HGNC_symbol:ADK ; biolink:category biolink:Gene . OMIM:102770 a owl:Class ; @@ -1496,14 +1535,15 @@ OMIM:102770 a owl:Class ; PMID:8486786 ; RO:0002525 CHR:9606chr1p13.2 ; RO:0003303 OMIM:615511 ; - oboInOwl:hasDbXref UMLS:C1412387 ; oboInOwl:hasExactSynonym "AMPD1", "adenosine monophosphate deaminase 1", "amp deaminase", "myoadenylate deaminase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:270 ; - skos:exactMatch HGNC_symbol:AMPD1 ; + skos:exactMatch UMLS:C1412387, + HGNC:468, + HGNC_symbol:AMPD1 ; biolink:category biolink:Gene . OMIM:102771 a owl:Class ; @@ -1518,12 +1558,13 @@ OMIM:102771 a owl:Class ; PMID:8764830 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:615809 ; - oboInOwl:hasDbXref UMLS:C1412388 ; oboInOwl:hasExactSynonym "AMPD2", "adenosine monophosphate deaminase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:271 ; - skos:exactMatch HGNC_symbol:AMPD2 ; + skos:exactMatch UMLS:C1412388, + HGNC:469, + HGNC_symbol:AMPD2 ; biolink:category biolink:Gene . OMIM:102772 a owl:Class ; @@ -1538,12 +1579,13 @@ OMIM:102772 a owl:Class ; PMID:9321472 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:612874 ; - oboInOwl:hasDbXref UMLS:C1412389 ; oboInOwl:hasExactSynonym "AMPD3", "adenosine monophosphate deaminase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:272 ; - skos:exactMatch HGNC_symbol:AMPD3 ; + skos:exactMatch UMLS:C1412389, + HGNC:470, + HGNC_symbol:AMPD3 ; biolink:category biolink:Gene . OMIM:102775 a owl:Class ; @@ -1559,13 +1601,14 @@ OMIM:102775 a owl:Class ; PMID:2298733, PMID:27134041, PMID:7601478 ; - oboInOwl:hasDbXref UMLS:C1412245 ; oboInOwl:hasExactSynonym "ADORA1", "adenosine a1 receptor", "rdc7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134 ; - skos:exactMatch HGNC_symbol:ADORA1 ; + skos:exactMatch UMLS:C1412245, + HGNC:262, + HGNC_symbol:ADORA1 ; biolink:category biolink:Gene . OMIM:102776 a owl:Class ; @@ -1589,7 +1632,6 @@ OMIM:102776 a owl:Class ; PMID:8325649, PMID:8670304, PMID:9262401 ; - oboInOwl:hasDbXref UMLS:C1412246 ; oboInOwl:hasExactSynonym "ADORA2A", "a2ar", "adenosine a2a receptor", @@ -1597,7 +1639,9 @@ OMIM:102776 a owl:Class ; "rdc8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135 ; - skos:exactMatch HGNC_symbol:ADORA2A ; + skos:exactMatch UMLS:C1412246, + HGNC:263, + HGNC_symbol:ADORA2A ; biolink:category biolink:Gene . OMIM:102777 a owl:Class ; @@ -1608,8 +1652,8 @@ OMIM:102800 a owl:Class ; rdfs:label "adenosine triphosphatase deficiency, anemia due to" ; IAO:0000142 PMID:14149197, PMID:4257922 ; - oboInOwl:hasDbXref UMLS:C1863225 ; oboInOwl:hasExactSynonym "adenosine triphosphatase deficiency, anemia due to" ; + skos:exactMatch UMLS:C1863225 ; biolink:category biolink:Disease . OMIM:102900 a owl:Class ; @@ -1618,9 +1662,9 @@ OMIM:102900 a owl:Class ; PMID:4160306, PMID:7426754, PMID:9090535 ; - oboInOwl:hasDbXref UMLS:C1863224 ; oboInOwl:hasExactSynonym "adenosine triphosphate, elevated, of erythrocytes", "pyruvate kinase hyperactivity" ; + skos:exactMatch UMLS:C1863224 ; biolink:category biolink:Disease . OMIM:102910 a owl:Class ; @@ -1629,7 +1673,6 @@ OMIM:102910 a owl:Class ; PMID:22219196, PMID:2687158, PMID:2900241 ; - oboInOwl:hasDbXref UMLS:C1412653 ; oboInOwl:hasExactSynonym "ATP5F1B", "atp synthase f1, subunit beta", "atp synthase, h+ transporting, mitochondrial f1 complex, beta subunit", @@ -1638,7 +1681,9 @@ OMIM:102910 a owl:Class ; "mitochondrial atp synthase, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:506 ; - skos:exactMatch HGNC_symbol:ATP5F1B ; + skos:exactMatch UMLS:C1412653, + HGNC:830, + HGNC_symbol:ATP5F1B ; biolink:category biolink:Gene . OMIM:102920 a owl:Class ; @@ -1666,7 +1711,6 @@ OMIM:102980 a owl:Class ; PMID:21350482, PMID:24487620, PMID:8353512 ; - oboInOwl:hasDbXref UMLS:C1412228 ; oboInOwl:hasExactSynonym "ADCYAP1", "adenylate cyclase-activating polypeptide 1", "pacap-related peptide", @@ -1675,7 +1719,9 @@ OMIM:102980 a owl:Class ; "pituitary adenylate cyclase-activating polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116 ; - skos:exactMatch HGNC_symbol:ADCYAP1 ; + skos:exactMatch UMLS:C1412228, + HGNC:241, + HGNC_symbol:ADCYAP1 ; biolink:category biolink:Gene . OMIM:102981 a owl:Class ; @@ -1688,7 +1734,6 @@ OMIM:102981 a owl:Class ; PMID:7902709, PMID:8954788, PMID:9543159 ; - oboInOwl:hasDbXref UMLS:C1412229 ; oboInOwl:hasExactSynonym "ADCYAP1R1", "adcyap receptor, iia 1", "adenylate cyclase-activating polypeptide 1 receptor", @@ -1697,7 +1742,9 @@ OMIM:102981 a owl:Class ; "pituitary adenylate cyclase-activating polypeptide receptor, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117 ; - skos:exactMatch HGNC_symbol:ADCYAP1R1 ; + skos:exactMatch UMLS:C1412229, + HGNC:242, + HGNC_symbol:ADCYAP1R1 ; biolink:category biolink:Gene . OMIM:102990 a owl:Class ; @@ -1730,13 +1777,14 @@ OMIM:103000 a owl:Class ; PMID:9432020 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:612631 ; - oboInOwl:hasDbXref UMLS:C1412305 ; oboInOwl:hasExactSynonym "AK1", "adenylate kinase 1", "adenylate kinase, soluble" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203 ; - skos:exactMatch HGNC_symbol:AK1 ; + skos:exactMatch UMLS:C1412305, + HGNC:361, + HGNC_symbol:AK1 ; biolink:category biolink:Gene . OMIM:103020 a owl:Class ; @@ -1752,13 +1800,14 @@ OMIM:103020 a owl:Class ; PMID:9434148 ; RO:0002525 CHR:9606chr1p35.1 ; RO:0003303 OMIM:267500 ; - oboInOwl:hasDbXref UMLS:C1412306 ; oboInOwl:hasExactSynonym "AK2", "adenylate kinase 2", "adenylate kinase, mitochondrial myokinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:204 ; - skos:exactMatch HGNC_symbol:AK2 ; + skos:exactMatch UMLS:C1412306, + HGNC:362, + HGNC_symbol:AK2 ; biolink:category biolink:Gene . OMIM:103030 a owl:Class ; @@ -1768,7 +1817,6 @@ OMIM:103030 a owl:Class ; PMID:1639383, PMID:1694727, PMID:9813319 ; - oboInOwl:hasDbXref UMLS:C1424944 ; oboInOwl:hasExactSynonym "AK4", "adenylate kinase 3, formerly", "adenylate kinase 3-like 1", @@ -1776,20 +1824,23 @@ OMIM:103030 a owl:Class ; "ak4, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:205 ; - skos:exactMatch HGNC_symbol:AK4 ; + skos:exactMatch UMLS:C1424944, + HGNC:363, + HGNC_symbol:AK4 ; biolink:category biolink:Gene . OMIM:103060 a owl:Class ; rdfs:label "ADSS" ; IAO:0000142 PMID:1592113, PMID:2004783 ; - oboInOwl:hasDbXref UMLS:C1412263 ; oboInOwl:hasExactSynonym "ADSS", "ade(-)h, complement of", "adenylosuccinate synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:159 ; - skos:exactMatch HGNC_symbol:ADSS2 ; + skos:exactMatch UMLS:C1412263, + HGNC:292, + HGNC_symbol:ADSS2 ; biolink:category biolink:Gene . OMIM:103070 a owl:Class ; @@ -1802,7 +1853,6 @@ OMIM:103070 a owl:Class ; PMID:16613843, PMID:1715695, PMID:8076676 ; - oboInOwl:hasDbXref UMLS:C1412227 ; oboInOwl:hasExactSynonym "ADCY8", "adcy8", "adenylate cyclase 3, formerly", @@ -1810,7 +1860,9 @@ OMIM:103070 a owl:Class ; "adenylyl cyclase, brain, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114 ; - skos:exactMatch HGNC_symbol:ADCY8 ; + skos:exactMatch UMLS:C1412227, + HGNC:239, + HGNC_symbol:ADCY8 ; biolink:category biolink:Gene . OMIM:103071 a owl:Class ; @@ -1820,14 +1872,15 @@ OMIM:103071 a owl:Class ; PMID:1427768, PMID:7766992, PMID:7959689 ; - oboInOwl:hasDbXref UMLS:C1412221 ; oboInOwl:hasExactSynonym "ADCY2", "adenylate cyclase 2", "adenylyl cyclase 2", "adenylyl cyclase, brain, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:108 ; - skos:exactMatch HGNC_symbol:ADCY2 ; + skos:exactMatch UMLS:C1412221, + HGNC:233, + HGNC_symbol:ADCY2 ; biolink:category biolink:Gene . OMIM:103072 a owl:Class ; @@ -1845,14 +1898,15 @@ OMIM:103072 a owl:Class ; PMID:9662407 ; RO:0002525 CHR:9606chr7p12.3 ; RO:0003303 OMIM:610154 ; - oboInOwl:hasDbXref UMLS:C1412220 ; oboInOwl:hasExactSynonym "ADCY1", "adenylate cyclase 1", "adenylyl cyclase 1", "adenylyl cyclase, fetal brain, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:107 ; - skos:exactMatch HGNC_symbol:ADCY1 ; + skos:exactMatch UMLS:C1412220, + HGNC:232, + HGNC_symbol:ADCY1 ; biolink:category biolink:Gene . OMIM:103100 a owl:Class ; @@ -1861,13 +1915,13 @@ OMIM:103100 a owl:Class ; PMID:3340290, PMID:4177586, PMID:5838361 ; - oboInOwl:hasDbXref UMLS:C0001519, - UMLS:C0040416, - ORPHA:454718 ; oboInOwl:hasExactSynonym "adie pupil", "adie syndrome", "holmes-adie syndrome", "poorly reacting pupils" ; + skos:exactMatch UMLS:C0001519, + UMLS:C0040416, + ORPHA:454718 ; biolink:category biolink:Disease . OMIM:103180 a owl:Class ; @@ -1887,25 +1941,27 @@ OMIM:103180 a owl:Class ; PMID:9476900 ; RO:0002525 CHR:9606chr1q42.13 ; RO:0003303 OMIM:618185 ; - oboInOwl:hasDbXref UMLS:C1412504, - UMLS:C4748602 ; oboInOwl:hasExactSynonym "ARF1", "adp-ribosylation factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375 ; - skos:exactMatch HGNC_symbol:ARF1 ; + skos:exactMatch UMLS:C1412504, + UMLS:C4748602, + HGNC:652, + HGNC_symbol:ARF1 ; biolink:category biolink:Gene . OMIM:103188 a owl:Class ; rdfs:label "ARF5" ; IAO:0000142 PMID:1993656, PMID:9169151 ; - oboInOwl:hasDbXref UMLS:C1412510 ; oboInOwl:hasExactSynonym "ARF5", "adp-ribosylation factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:381 ; - skos:exactMatch HGNC_symbol:ARF5 ; + skos:exactMatch UMLS:C1412510, + HGNC:658, + HGNC_symbol:ARF5 ; biolink:category biolink:Gene . OMIM:103190 a owl:Class ; @@ -1913,12 +1969,13 @@ OMIM:103190 a owl:Class ; IAO:0000142 PMID:1744102, PMID:2474826, PMID:8661066 ; - oboInOwl:hasDbXref UMLS:C1412506 ; oboInOwl:hasExactSynonym "ARF3", "adp-ribosylation factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:377 ; - skos:exactMatch HGNC_symbol:ARF3 ; + skos:exactMatch UMLS:C1412506, + HGNC:654, + HGNC_symbol:ARF3 ; biolink:category biolink:Gene . OMIM:103195 a owl:Class ; @@ -1929,14 +1986,15 @@ OMIM:103195 a owl:Class ; PMID:8325636, PMID:9003395, PMID:9799447 ; - oboInOwl:hasDbXref UMLS:C1412234 ; oboInOwl:hasExactSynonym "PLIN2", "adipophilin", "adipose differentiation-related protein", "perilipin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123 ; - skos:exactMatch HGNC_symbol:PLIN2 ; + skos:exactMatch UMLS:C1412234, + HGNC:248, + HGNC_symbol:PLIN2 ; biolink:category biolink:Gene . OMIM:103200 a owl:Class ; @@ -1946,9 +2004,9 @@ OMIM:103200 a owl:Class ; PMID:17948485, PMID:22546240, PMID:4721343 ; - oboInOwl:hasDbXref UMLS:C0001529 ; oboInOwl:hasExactSynonym "adiposis dolorosa", "dercum disease" ; + skos:exactMatch UMLS:C0001529 ; biolink:category biolink:Disease . OMIM:103220 a owl:Class ; @@ -1982,10 +2040,6 @@ OMIM:103220 a owl:Class ; PMID:9207786 ; RO:0002525 CHR:9606chr4q35.1 ; RO:0003303 OMIM:609283 ; - oboInOwl:hasDbXref UMLS:C1335833, - UMLS:C1836460, - UMLS:C3809443, - UMLS:C4310676 ; oboInOwl:hasExactSynonym "SLC25A4", "adenine nucleotide translocator 1", "adp/atp carrier 1", @@ -1994,14 +2048,19 @@ OMIM:103220 a owl:Class ; "solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:291 ; - skos:exactMatch HGNC_symbol:SLC25A4 ; + skos:exactMatch UMLS:C1335833, + UMLS:C1836460, + UMLS:C3809443, + UMLS:C4310676, + HGNC:10990, + HGNC_symbol:SLC25A4 ; biolink:category biolink:Gene . OMIM:103230 a owl:Class ; rdfs:label "adrenocortical hypofunction, chronic primary congenital" ; - oboInOwl:hasDbXref UMLS:C0271740 ; oboInOwl:hasExactSynonym "addison disease, congenital", - "adrenocortical hypofunction, chronic primary congenital" . + "adrenocortical hypofunction, chronic primary congenital" ; + skos:exactMatch UMLS:C0271740 . OMIM:103260 a owl:Class ; rdfs:label "FDX1" ; @@ -2015,13 +2074,14 @@ OMIM:103260 a owl:Class ; PMID:3343244, PMID:3778538, PMID:6309754 ; - oboInOwl:hasDbXref UMLS:C1414571 ; oboInOwl:hasExactSynonym "FDX1", "adrenodoxin", "ferredoxin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2230 ; - skos:exactMatch HGNC_symbol:FDX1 ; + skos:exactMatch UMLS:C1414571, + HGNC:3638, + HGNC_symbol:FDX1 ; biolink:category biolink:Gene . OMIM:103270 a owl:Class ; @@ -2032,14 +2092,15 @@ OMIM:103270 a owl:Class ; PMID:28965846 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:617717 ; - oboInOwl:hasDbXref UMLS:C1414575 ; oboInOwl:hasExactSynonym "FDXR", "adrenodoxin reductase", "ferredoxin reductase", "ferredoxin:nadp(+) reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2232 ; - skos:exactMatch HGNC_symbol:FDXR ; + skos:exactMatch UMLS:C1414575, + HGNC:3642, + HGNC_symbol:FDXR ; biolink:category biolink:Gene . OMIM:103275 a owl:Class ; @@ -2055,12 +2116,13 @@ OMIM:103275 a owl:Class ; PMID:8074714, PMID:8938454, PMID:9620797 ; - oboInOwl:hasDbXref UMLS:C1412244 ; oboInOwl:hasExactSynonym "ADM", "adrenomedullin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133 ; - skos:exactMatch HGNC_symbol:ADM ; + skos:exactMatch UMLS:C1412244, + HGNC:259, + HGNC_symbol:ADM ; biolink:category biolink:Gene . OMIM:103280 a owl:Class ; @@ -2098,7 +2160,6 @@ OMIM:103280 a owl:Class ; PMID:9490417, PMID:9811943, PMID:9851976 ; - oboInOwl:hasDbXref UMLS:C1333887 ; oboInOwl:hasExactSynonym "H19", "adult skeletal muscle gene", "asm1", @@ -2107,7 +2168,9 @@ OMIM:103280 a owl:Class ; "long intergenic noncoding RNA h19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283120 ; - skos:exactMatch HGNC_symbol:H19 ; + skos:exactMatch UMLS:C1333887, + HGNC:4713, + HGNC_symbol:H19 ; biolink:category biolink:Gene . OMIM:103285 a owl:Class ; @@ -2123,10 +2186,10 @@ OMIM:103285 a owl:Class ; PMID:19530185, PMID:20814947, PMID:8456838 ; - oboInOwl:hasDbXref UMLS:C1863204, - ORPHA:978 ; oboInOwl:hasExactSynonym "acro-dermato-ungual-lacrimal-tooth syndrome", "adult syndrome" ; + skos:exactMatch UMLS:C1863204, + ORPHA:978 ; biolink:category biolink:Disease . OMIM:103300 a owl:Class ; @@ -2139,13 +2202,13 @@ OMIM:103300 a owl:Class ; PMID:5263276, PMID:6616945, PMID:880741 ; - oboInOwl:hasDbXref UMLS:C0595985, - UMLS:C1863203 ; oboInOwl:hasExactSynonym "aglossia-adactylia", "hanhart syndrome", "hypoglossia-hypodactylia", "oromandibular limb hypoplasia", "peromelia with micrognathism" ; + skos:exactMatch UMLS:C0595985, + UMLS:C1863203 ; biolink:category biolink:Disease . OMIM:103320 a owl:Class ; @@ -2169,13 +2232,14 @@ OMIM:103320 a owl:Class ; PMID:8653788 ; RO:0002525 CHR:9606chr1p36.33 ; RO:0003303 OMIM:615120 ; - oboInOwl:hasDbXref UMLS:C1412285, - UMLS:C3808739 ; oboInOwl:hasExactSynonym "AGRN", "agrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375790 ; - skos:exactMatch HGNC_symbol:AGRN ; + skos:exactMatch UMLS:C1412285, + UMLS:C3808739, + HGNC:329, + HGNC_symbol:AGRN ; biolink:category biolink:Gene . OMIM:103321 a owl:Class ; @@ -2192,27 +2256,28 @@ OMIM:103390 a owl:Class ; PMID:7789175, PMID:8408266, PMID:8938448 ; - oboInOwl:hasDbXref UMLS:C1412295 ; oboInOwl:hasExactSynonym "AHNAK", "ahnak nucleoprotein", "desmoyokin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79026 ; - skos:exactMatch HGNC_symbol:AHNAK ; + skos:exactMatch UMLS:C1412295, + HGNC:347, + HGNC_symbol:AHNAK ; biolink:category biolink:Gene . OMIM:103400 a owl:Class ; rdfs:label "ainhum" ; - oboInOwl:hasDbXref UMLS:C0001860 ; - oboInOwl:hasExactSynonym "ainhum" . + oboInOwl:hasExactSynonym "ainhum" ; + skos:exactMatch UMLS:C0001860 . OMIM:103420 a owl:Class ; rdfs:label "alacrima, congenital, autosomal dominant" ; IAO:0000142 PMID:1815166, PMID:962658 ; - oboInOwl:hasDbXref UMLS:C4310836 ; oboInOwl:hasExactSynonym "alacrima, congenital, autosomal dominant", "alacrimia congenita, autosomal dominant" ; + skos:exactMatch UMLS:C4310836 ; biolink:category biolink:Disease . OMIM:103470 a owl:Class ; @@ -2229,13 +2294,13 @@ OMIM:103500 a owl:Class ; PMID:6018993, PMID:8589691, PMID:9546825 ; - oboInOwl:hasDbXref UMLS:C0391816, - ORPHA:42665 ; oboInOwl:hasExactSynonym "TADS", "albinism-deafness of tietz", "hypopigmentation/deafness of tietz", "tietz albinism-deafness syndrome", "tietz syndrome" ; + skos:exactMatch UMLS:C0391816, + ORPHA:42665 ; biolink:category biolink:Disease . OMIM:103581 a owl:Class ; @@ -2341,12 +2406,13 @@ OMIM:103600 a owl:Class ; PMID:9589637 ; RO:0002525 CHR:9606chr4q13.3 ; RO:0003303 OMIM:615999 ; - oboInOwl:hasDbXref UMLS:C1412332 ; oboInOwl:hasExactSynonym "ALB", "albumin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:213 ; - skos:exactMatch HGNC_symbol:ALB ; + skos:exactMatch UMLS:C1412332, + HGNC:399, + HGNC_symbol:ALB ; biolink:category biolink:Gene . OMIM:103700 a owl:Class ; @@ -2372,14 +2438,15 @@ OMIM:103700 a owl:Class ; PMID:8279483, PMID:8834044, PMID:9982 ; - oboInOwl:hasDbXref UMLS:C1412235 ; oboInOwl:hasExactSynonym "ADH1A", "adh, alpha subunit", "alcohol dehydrogenase 1", "alcohol dehydrogenase 1a, class i, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124 ; - skos:exactMatch HGNC_symbol:ADH1A ; + skos:exactMatch UMLS:C1412235, + HGNC:249, + HGNC_symbol:ADH1A ; biolink:category biolink:Gene . OMIM:103720 a owl:Class ; @@ -2428,14 +2495,15 @@ OMIM:103720 a owl:Class ; PMID:8834237 ; RO:0002525 CHR:9606chr4q23 ; RO:0003303 OMIM:103780 ; - oboInOwl:hasDbXref UMLS:C1412236 ; oboInOwl:hasExactSynonym "ADH1B", "adh, beta subunit", "alcohol dehydrogenase 1b, class i, beta polypeptide", "alcohol dehydrogenase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125 ; - skos:exactMatch HGNC_symbol:ADH1B ; + skos:exactMatch UMLS:C1412236, + HGNC:250, + HGNC_symbol:ADH1B ; biolink:category biolink:Gene . OMIM:103730 a owl:Class ; @@ -2459,26 +2527,28 @@ OMIM:103730 a owl:Class ; PMID:9126489 ; RO:0002525 CHR:9606chr4q23 ; RO:0003303 OMIM:168600 ; - oboInOwl:hasDbXref UMLS:C1412237 ; oboInOwl:hasExactSynonym "ADH1C", "adh, gamma subunit", "alcohol dehydrogenase 1c, gamma polypeptide", "alcohol dehydrogenase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126 ; - skos:exactMatch HGNC_symbol:ADH1C ; + skos:exactMatch UMLS:C1412237, + HGNC:251, + HGNC_symbol:ADH1C ; biolink:category biolink:Gene . OMIM:103735 a owl:Class ; rdfs:label "ADH6" ; IAO:0000142 PMID:12050823, PMID:1881901 ; - oboInOwl:hasDbXref UMLS:C1412241 ; oboInOwl:hasExactSynonym "ADH6", "alcohol dehydrogenase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130 ; - skos:exactMatch HGNC_symbol:ADH6 ; + skos:exactMatch UMLS:C1412241, + HGNC:255, + HGNC_symbol:ADH6 ; biolink:category biolink:Gene . OMIM:103740 a owl:Class ; @@ -2486,14 +2556,15 @@ OMIM:103740 a owl:Class ; IAO:0000142 PMID:1362387, PMID:270680, PMID:3466164 ; - oboInOwl:hasDbXref UMLS:C1412238 ; oboInOwl:hasExactSynonym "ADH4", "adh, class 2", "alcohol dehydrogenase 4", "alcohol dehydrogenase, pi isozyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127 ; - skos:exactMatch HGNC_symbol:ADH4 ; + skos:exactMatch UMLS:C1412238, + HGNC:252, + HGNC_symbol:ADH4 ; biolink:category biolink:Gene . OMIM:103800 a owl:Class ; @@ -2506,13 +2577,14 @@ OMIM:103830 a owl:Class ; IAO:0000142 PMID:10393438, PMID:2498333, PMID:30487609 ; - oboInOwl:hasDbXref UMLS:C1412321 ; oboInOwl:hasExactSynonym "AKR1A1", "aldehyde reductase", "aldo-keto reductase family 1, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10327 ; - skos:exactMatch HGNC_symbol:AKR1A1 ; + skos:exactMatch UMLS:C1412321, + HGNC:380, + HGNC_symbol:AKR1A1 ; biolink:category biolink:Gene . OMIM:103850 a owl:Class ; @@ -2531,7 +2603,6 @@ OMIM:103850 a owl:Class ; PMID:8598869 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:611881 ; - oboInOwl:hasDbXref UMLS:C1412344 ; oboInOwl:hasExactSynonym "ALDOA", "aldolase 1", "aldolase a", @@ -2540,7 +2611,9 @@ OMIM:103850 a owl:Class ; "fructose-1,6-bisphosphate aldolase a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:226 ; - skos:exactMatch HGNC_symbol:ALDOA ; + skos:exactMatch UMLS:C1412344, + HGNC:414, + HGNC_symbol:ALDOA ; biolink:category biolink:Gene . OMIM:103870 a owl:Class ; @@ -2549,27 +2622,28 @@ OMIM:103870 a owl:Class ; PMID:3105602, PMID:3267224, PMID:3674018 ; - oboInOwl:hasDbXref UMLS:C1412348 ; oboInOwl:hasExactSynonym "ALDOC", "aldolase 3", "aldolase c, fructose-bisphosphate", "fructoaldolase c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:230 ; - skos:exactMatch HGNC_symbol:ALDOC ; + skos:exactMatch UMLS:C1412348, + HGNC:418, + HGNC_symbol:ALDOC ; biolink:category biolink:Gene . OMIM:103890 a owl:Class ; IAO:0100001 OMIM:103880 ; - oboInOwl:hasDbXref UMLS:C1863110 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1863110 . OMIM:103920 a owl:Class ; rdfs:label "allergic bronchopulmonary aspergillosis, familial" ; IAO:0000142 PMID:382935, PMID:75074 ; - oboInOwl:hasDbXref UMLS:C3278302 ; - oboInOwl:hasExactSynonym "allergic bronchopulmonary aspergillosis, familial" . + oboInOwl:hasExactSynonym "allergic bronchopulmonary aspergillosis, familial" ; + skos:exactMatch UMLS:C3278302 . OMIM:103950 a owl:Class ; rdfs:label "A2M" ; @@ -2601,13 +2675,14 @@ OMIM:103950 a owl:Class ; PMID:94459, PMID:9697696, PMID:9811940 ; - oboInOwl:hasDbXref UMLS:C1412046 ; oboInOwl:hasExactSynonym "A2M", "alpha-2-macroglobulin", "macroglobulin, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2 ; - skos:exactMatch HGNC_symbol:A2M ; + skos:exactMatch UMLS:C1412046, + HGNC:7, + HGNC_symbol:A2M ; biolink:category biolink:Gene . OMIM:104100 a owl:Class ; @@ -2617,29 +2692,29 @@ OMIM:104100 a owl:Class ; PMID:25168385, PMID:7577599, PMID:8488878 ; - oboInOwl:hasDbXref UMLS:C3151468, - ORPHA:1010 ; oboInOwl:hasExactSynonym "PPKCA1", "keratoderma-hypotrichosis-leukonychia totalis syndrome", "palmoplantar keratoderma and congenital alopecia 1", "ppkca, stevanovic iia" ; + skos:exactMatch UMLS:C3151468, + ORPHA:1010 ; biolink:category biolink:Disease . OMIM:104110 a owl:Class ; rdfs:label "alopecia, familial focal" ; IAO:0000142 PMID:3813597 ; - oboInOwl:hasDbXref UMLS:C1863092 ; oboInOwl:hasExactSynonym "ALPF", "alopecia, familial focal" ; - rdfs:subClassOf OMIMPS:203655 . + rdfs:subClassOf OMIMPS:203655 ; + skos:exactMatch UMLS:C1863092 . OMIM:104130 a owl:Class ; rdfs:label "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality" ; IAO:0000142 PMID:8275563, PMID:830443 ; - oboInOwl:hasDbXref UMLS:C1863090 ; oboInOwl:hasExactSynonym "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality", "shokeir syndrome" ; + skos:exactMatch UMLS:C1863090 ; biolink:category biolink:Disease . OMIM:104145 a owl:Class ; @@ -2648,14 +2723,15 @@ OMIM:104145 a owl:Class ; PMID:7509788, PMID:7517938, PMID:8755513 ; - oboInOwl:hasDbXref UMLS:C1412275 ; oboInOwl:hasExactSynonym "AFM", "afamin", "alb2", "alpha-albumin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:173 ; - skos:exactMatch HGNC_symbol:AFM ; + skos:exactMatch UMLS:C1412275, + HGNC:316, + HGNC_symbol:AFM ; biolink:category biolink:Gene . OMIM:104150 a owl:Class ; @@ -2692,12 +2768,13 @@ OMIM:104150 a owl:Class ; PMID:7684942 ; RO:0002525 CHR:9606chr4q13.3 ; RO:0003303 OMIM:615970 ; - oboInOwl:hasDbXref UMLS:C1367597 ; oboInOwl:hasExactSynonym "AFP", "alpha-fetoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:174 ; - skos:exactMatch HGNC_symbol:AFP ; + skos:exactMatch UMLS:C1367597, + HGNC:317, + HGNC_symbol:AFP ; biolink:category biolink:Gene . OMIM:104155 a owl:Class ; @@ -2710,8 +2787,6 @@ OMIM:104155 a owl:Class ; PMID:8995484 ; RO:0002525 CHR:9606chr16q22.2-q22.3 ; RO:0003303 OMIM:176807 ; - oboInOwl:hasDbXref UMLS:C1412611, - UMLS:C4015779 ; oboInOwl:hasExactSynonym "ZFHX3", "alpha-fetoprotein enhancer-binding protein", "at motif-binding factor 1", @@ -2719,7 +2794,10 @@ OMIM:104155 a owl:Class ; "zinc finger homeobox 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:463 ; - skos:exactMatch HGNC_symbol:ZFHX3 ; + skos:exactMatch UMLS:C1412611, + UMLS:C4015779, + HGNC:777, + HGNC_symbol:ZFHX3 ; biolink:category biolink:Gene . OMIM:104170 a owl:Class ; @@ -2742,13 +2820,14 @@ OMIM:104170 a owl:Class ; PMID:9787108 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:609241 ; - oboInOwl:hasDbXref UMLS:C1417592 ; oboInOwl:hasExactSynonym "NAGA", "alpha-galactosidase B", "n-acetyl-alpha-d-galactosaminidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4668 ; - skos:exactMatch HGNC_symbol:NAGA ; + skos:exactMatch UMLS:C1417592, + HGNC:7631, + HGNC_symbol:NAGA ; biolink:category biolink:Gene . OMIM:104175 a owl:Class ; @@ -2760,14 +2839,15 @@ OMIM:104175 a owl:Class ; PMID:1901859, PMID:19218399, PMID:2503516 ; - oboInOwl:hasDbXref UMLS:C1415056 ; oboInOwl:hasExactSynonym "GGTA1P", "alpha-1,3-galactosyltransferase", "ggta1", "glycoprotein, alpha-galactosyltransferase 1 pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2681 ; - skos:exactMatch HGNC_symbol:GGTA1 ; + skos:exactMatch UMLS:C1415056, + HGNC:4253, + HGNC_symbol:GGTA1 ; biolink:category biolink:Gene . OMIM:104180 a owl:Class ; @@ -2777,13 +2857,14 @@ OMIM:104180 a owl:Class ; PMID:6995030, PMID:8640221, PMID:9988276 ; - oboInOwl:hasDbXref UMLS:C1414966 ; oboInOwl:hasExactSynonym "GANC", "alpha-glucosidase c, neutral", "glucosidase, alpha, neutral c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2595 ; - skos:exactMatch HGNC_symbol:GANC ; + skos:exactMatch UMLS:C1414966, + HGNC:4139, + HGNC_symbol:GANC ; biolink:category biolink:Gene . OMIM:104200 a owl:Class ; @@ -2797,10 +2878,10 @@ OMIM:104200 a owl:Class ; PMID:626446, PMID:7371220, PMID:9269635 ; - oboInOwl:hasDbXref UMLS:C4746547 ; oboInOwl:hasExactSynonym "ATS3", "alport syndrome 3, autosomal dominant" ; rdfs:subClassOf OMIMPS:301050 ; + skos:exactMatch UMLS:C4746547 ; biolink:category biolink:Disease . OMIM:104210 a owl:Class ; @@ -2817,7 +2898,6 @@ OMIM:104210 a owl:Class ; PMID:2823383, PMID:2902571, PMID:9401330 ; - oboInOwl:hasDbXref UMLS:C1332028 ; oboInOwl:hasExactSynonym "ADRA2A", "adrar", "adrenoceptor, alpha-2a", @@ -2825,7 +2905,9 @@ OMIM:104210 a owl:Class ; "alpha-2a-adrenergic receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150 ; - skos:exactMatch HGNC_symbol:ADRA2A ; + skos:exactMatch UMLS:C1332028, + HGNC:281, + HGNC_symbol:ADRA2A ; biolink:category biolink:Gene . OMIM:104220 a owl:Class ; @@ -2838,13 +2920,14 @@ OMIM:104220 a owl:Class ; PMID:8039425, PMID:9326654, PMID:9700190 ; - oboInOwl:hasDbXref UMLS:C1332027 ; oboInOwl:hasExactSynonym "ADRA1B", "alpha-1-adrenergic receptor", "alpha-1b-adrenergic receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147 ; - skos:exactMatch HGNC_symbol:ADRA1B ; + skos:exactMatch UMLS:C1332027, + HGNC:278, + HGNC_symbol:ADRA1B ; biolink:category biolink:Gene . OMIM:104221 a owl:Class ; @@ -2858,13 +2941,14 @@ OMIM:104221 a owl:Class ; PMID:8396931, PMID:8564208, PMID:9490024 ; - oboInOwl:hasDbXref UMLS:C1332026 ; oboInOwl:hasExactSynonym "ADRA1A", "alpha-1a-adrenergic receptor", "alpha-1c-adrenergic receptor, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148 ; - skos:exactMatch HGNC_symbol:ADRA1A ; + skos:exactMatch UMLS:C1332026, + HGNC:277, + HGNC_symbol:ADRA1A ; biolink:category biolink:Gene . OMIM:104222 a owl:Class ; @@ -2885,13 +2969,14 @@ OMIM:104225 a owl:Class ; PMID:9207124 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:615431 ; - oboInOwl:hasDbXref UMLS:C1416920 ; oboInOwl:hasExactSynonym "LRPAP1", "alpha-2-macroglobulin receptor-associated protein", "low density lipoprotein receptor-related protein-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4043 ; - skos:exactMatch HGNC_symbol:LRPAP1 ; + skos:exactMatch UMLS:C1416920, + HGNC:6701, + HGNC_symbol:LRPAP1 ; biolink:category biolink:Gene . OMIM:104230 a owl:Class ; @@ -2903,13 +2988,14 @@ OMIM:104230 a owl:Class ; PMID:7559635, PMID:7782074, PMID:8287679 ; - oboInOwl:hasDbXref UMLS:C1414865 ; oboInOwl:hasExactSynonym "FUT4", "alpha-3-fucosyltransferase", "fucosyltransferase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2526 ; - skos:exactMatch HGNC_symbol:FUT4 ; + skos:exactMatch UMLS:C1414865, + HGNC:4015, + HGNC_symbol:FUT4 ; biolink:category biolink:Gene . OMIM:104240 a owl:Class ; @@ -2922,7 +3008,6 @@ OMIM:104240 a owl:Class ; PMID:7655169, PMID:8027041, PMID:8557707 ; - oboInOwl:hasDbXref UMLS:C1539862 ; oboInOwl:hasExactSynonym "ST3GAL4", "alpha-3-n-acetylneuraminyltransferase", "cgs23", @@ -2933,7 +3018,9 @@ OMIM:104240 a owl:Class ; "st3o/n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6484 ; - skos:exactMatch HGNC_symbol:ST3GAL4 ; + skos:exactMatch UMLS:C1539862, + HGNC:10864, + HGNC_symbol:ST3GAL4 ; biolink:category biolink:Gene . OMIM:104250 a owl:Class ; @@ -2946,15 +3033,16 @@ OMIM:104250 a owl:Class ; PMID:8188260, PMID:9371698 ; RO:0002525 CHR:9606chr4p16.3 ; - oboInOwl:hasDbXref UMLS:C1412261, - UMLS:C2676080 ; oboInOwl:hasExactSynonym "ADRA2C", "alpha-2-adrenergic receptor, renal iia", "alpha-2c-adrenergic receptor", "congestive heart failure and beta-blocker response, modifier of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152 ; - skos:exactMatch HGNC_symbol:ADRA2C ; + skos:exactMatch UMLS:C1412261, + UMLS:C2676080, + HGNC:283, + HGNC_symbol:ADRA2C ; biolink:category biolink:Gene . OMIM:104260 a owl:Class ; @@ -2967,14 +3055,15 @@ OMIM:104260 a owl:Class ; PMID:24114805, PMID:2842764, PMID:31664034 ; - oboInOwl:hasDbXref UMLS:C1332029 ; oboInOwl:hasExactSynonym "ADRA2B", "adra2l1", "alpha-2-adrenergic receptor-like 1", "alpha-2b-adrenergic receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151 ; - skos:exactMatch HGNC_symbol:ADRA2B ; + skos:exactMatch UMLS:C1332029, + HGNC:282, + HGNC_symbol:ADRA2B ; biolink:category biolink:Gene . OMIM:104290 a owl:Class ; @@ -2986,10 +3075,10 @@ OMIM:104290 a owl:Class ; PMID:15286158, PMID:19996082, PMID:8496742 ; - oboInOwl:hasDbXref UMLS:C3549447 ; oboInOwl:hasExactSynonym "AHC1", "alternating hemiplegia of childhood 1" ; rdfs:subClassOf OMIMPS:104290 ; + skos:exactMatch UMLS:C3549447 ; biolink:category biolink:Disease . OMIM:104310 a owl:Class ; @@ -3014,12 +3103,12 @@ OMIM:104310 a owl:Class ; PMID:3669048, PMID:8346443, PMID:8592548 ; - oboInOwl:hasDbXref UMLS:C1863051, - ORPHA:1020 ; oboInOwl:hasExactSynonym "AD2", "alzheimer disease 2", "alzheimer disease 2, late-onset", "alzheimer disease associated with apoe4" ; + skos:exactMatch UMLS:C1863051, + ORPHA:1020 ; biolink:category biolink:Disease . OMIM:104311 a owl:Class ; @@ -3183,27 +3272,28 @@ OMIM:104311 a owl:Class ; PMID:9915968 ; RO:0002525 CHR:9606chr14q24.2 ; RO:0003303 OMIM:172700 ; - oboInOwl:hasDbXref UMLS:C1418985 ; oboInOwl:hasExactSynonym "PSEN1", "presenilin 1", "ps1", "s182" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5663 ; - skos:exactMatch HGNC_symbol:PSEN1 ; + skos:exactMatch UMLS:C1418985, + HGNC:9508, + HGNC_symbol:PSEN1 ; biolink:category biolink:Gene . OMIM:104350 a owl:Class ; rdfs:label "amastia, bilateral, with ureteral triplication and dysmorphism" ; IAO:0000142 PMID:3795344 ; - oboInOwl:hasDbXref UMLS:C1863015 ; - oboInOwl:hasExactSynonym "amastia, bilateral, with ureteral triplication and dysmorphism" . + oboInOwl:hasExactSynonym "amastia, bilateral, with ureteral triplication and dysmorphism" ; + skos:exactMatch UMLS:C1863015 . OMIM:104400 a owl:Class ; rdfs:label "amelia and terminal transverse hemimelia" ; IAO:0000142 PMID:22002956 ; - oboInOwl:hasDbXref UMLS:C1863014 ; - oboInOwl:hasExactSynonym "amelia and terminal transverse hemimelia" . + oboInOwl:hasExactSynonym "amelia and terminal transverse hemimelia" ; + skos:exactMatch UMLS:C1863014 . OMIM:104500 a owl:Class ; rdfs:label "amelogenesis imperfecta, iia 1b" ; @@ -3218,13 +3308,13 @@ OMIM:104500 a owl:Class ; PMID:6957136, PMID:7833920, PMID:9027503 ; - oboInOwl:hasDbXref UMLS:C0399368 ; oboInOwl:hasExactSynonym "AI1B", "aih2", "amelogenesis imperfecta, iia 1b", "amelogenesis imperfecta, hypoplastic local, autosomal dominant", "enamel hypoplasia, hereditary localized" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C0399368 ; biolink:category biolink:Disease . OMIM:104510 a owl:Class ; @@ -3237,11 +3327,11 @@ OMIM:104510 a owl:Class ; PMID:3422811, PMID:8375104, PMID:9382143 ; - oboInOwl:hasDbXref UMLS:C1863012 ; oboInOwl:hasExactSynonym "AI4", "amelogenesis imperfecta, iia 4", "amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C1863012 ; biolink:category biolink:Disease . OMIM:104530 a owl:Class ; @@ -3253,26 +3343,26 @@ OMIM:104530 a owl:Class ; PMID:265269, PMID:292722, PMID:3150442 ; - oboInOwl:hasDbXref UMLS:C4011403 ; oboInOwl:hasExactSynonym "AI1A", "amelogenesis imperfecta, iia 1a", "amelogenesis imperfecta, hypoplastic iia 1a" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C4011403 ; biolink:category biolink:Disease . OMIM:104570 a owl:Class ; rdfs:label "ameloonychohypohidrotic syndrome" ; IAO:0000142 PMID:122795 ; - oboInOwl:hasDbXref UMLS:C1863006 ; oboInOwl:hasExactSynonym "ameloonychohypohidrotic syndrome" ; + skos:exactMatch UMLS:C1863006 ; biolink:category biolink:Disease . OMIM:104600 a owl:Class ; rdfs:label "amenorrhea-galactorrhea syndrome" ; IAO:0000142 PMID:4299353, PMID:6067055 ; - oboInOwl:hasDbXref UMLS:C0271556 ; - oboInOwl:hasExactSynonym "amenorrhea-galactorrhea syndrome" . + oboInOwl:hasExactSynonym "amenorrhea-galactorrhea syndrome" ; + skos:exactMatch UMLS:C0271556 . OMIM:104610 a owl:Class ; rdfs:label "ABP1" ; @@ -3281,7 +3371,6 @@ OMIM:104610 a owl:Class ; PMID:8144586, PMID:8182053, PMID:8375402 ; - oboInOwl:hasDbXref UMLS:C1412100 ; oboInOwl:hasExactSynonym "ABP1", "abp", "amiloride-binding protein 1", @@ -3289,14 +3378,15 @@ OMIM:104610 a owl:Class ; "diamine oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26 ; - skos:exactMatch HGNC_symbol:AOC1 ; + skos:exactMatch UMLS:C1412100, + HGNC:80, + HGNC_symbol:AOC1 ; biolink:category biolink:Gene . OMIM:104613 a owl:Class ; rdfs:label "CCT6A" ; IAO:0000142 PMID:1352881, PMID:8034610 ; - oboInOwl:hasDbXref UMLS:C1413198 ; oboInOwl:hasExactSynonym "CCT6A", "amino acid transport defect-complementing", "cct6", @@ -3305,7 +3395,9 @@ OMIM:104613 a owl:Class ; "t-complex homolog tcp20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:908 ; - skos:exactMatch HGNC_symbol:CCT6A ; + skos:exactMatch UMLS:C1413198, + HGNC:1620, + HGNC_symbol:CCT6A ; biolink:category biolink:Gene . OMIM:104614 a owl:Class ; @@ -3339,7 +3431,6 @@ OMIM:104614 a owl:Class ; PMID:9768685 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:220100 ; - oboInOwl:hasDbXref UMLS:C1420191 ; oboInOwl:hasExactSynonym "SLC3A1", "amino acid transporter 1", "d2h", @@ -3347,7 +3438,9 @@ OMIM:104614 a owl:Class ; "solute carrier family 3 (cystine, dibasic, and neutral amino acid transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6519 ; - skos:exactMatch HGNC_symbol:SLC3A1 ; + skos:exactMatch UMLS:C1420191, + HGNC:11025, + HGNC_symbol:SLC3A1 ; biolink:category biolink:Gene . OMIM:104615 a owl:Class ; @@ -3359,14 +3452,15 @@ OMIM:104615 a owl:Class ; PMID:2159567, PMID:566388, PMID:8314586 ; - oboInOwl:hasDbXref UMLS:C1442751 ; oboInOwl:hasExactSynonym "SLC7A1", "amino acid transporter, cationic 1", "cationic amino acid transporter 1", "solute carrier family 7 (cationic amino acid transporter, y+ system), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6541 ; - skos:exactMatch HGNC_symbol:SLC7A1 ; + skos:exactMatch UMLS:C1442751, + HGNC:11057, + HGNC_symbol:SLC7A1 ; biolink:category biolink:Gene . OMIM:104620 a owl:Class ; @@ -3389,14 +3483,15 @@ OMIM:104620 a owl:Class ; PMID:8394326 ; RO:0002525 CHR:9606chr3p21.2 ; RO:0003303 OMIM:609924 ; - oboInOwl:hasDbXref UMLS:C1412173 ; oboInOwl:hasExactSynonym "ACY1", "acylase", "aminoacylase 1", "n-acyl-l-amino acid amidohydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:95 ; - skos:exactMatch HGNC_symbol:ACY1 ; + skos:exactMatch UMLS:C1412173, + HGNC:177, + HGNC_symbol:ACY1 ; biolink:category biolink:Gene . OMIM:104650 a owl:Class ; @@ -3423,13 +3518,14 @@ OMIM:104650 a owl:Class ; PMID:6608795, PMID:8528071, PMID:955637 ; - oboInOwl:hasDbXref UMLS:C1412394 ; oboInOwl:hasExactSynonym "AMY2A", "amy2", "amylase, pancreatic, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:279 ; - skos:exactMatch HGNC_symbol:AMY2A ; + skos:exactMatch UMLS:C1412394, + HGNC:477, + HGNC_symbol:AMY2A ; biolink:category biolink:Gene . OMIM:104660 a owl:Class ; @@ -3442,12 +3538,13 @@ OMIM:104660 a owl:Class ; PMID:6176528, PMID:6608795, PMID:8528071 ; - oboInOwl:hasDbXref UMLS:C1412395 ; oboInOwl:hasExactSynonym "AMY2B", "amylase, pancreatic, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:280 ; - skos:exactMatch HGNC_symbol:AMY2B ; + skos:exactMatch UMLS:C1412395, + HGNC:478, + HGNC_symbol:AMY2B ; biolink:category biolink:Gene . OMIM:104700 a owl:Class ; @@ -3474,13 +3571,14 @@ OMIM:104700 a owl:Class ; PMID:6207099, PMID:6608795, PMID:738721 ; - oboInOwl:hasDbXref UMLS:C1412391 ; oboInOwl:hasExactSynonym "AMY1A", "amylase, salivary", "amylase, salivary, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:276 ; - skos:exactMatch HGNC_symbol:AMY1A ; + skos:exactMatch UMLS:C1412391, + HGNC:474, + HGNC_symbol:AMY1A ; biolink:category biolink:Gene . OMIM:104701 a owl:Class ; @@ -3499,12 +3597,13 @@ OMIM:104701 a owl:Class ; PMID:6176528, PMID:6196780, PMID:6608795 ; - oboInOwl:hasDbXref UMLS:C1412392 ; oboInOwl:hasExactSynonym "AMY1B", "amylase, salivary, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:277 ; - skos:exactMatch HGNC_symbol:AMY1B ; + skos:exactMatch UMLS:C1412392, + HGNC:475, + HGNC_symbol:AMY1B ; biolink:category biolink:Gene . OMIM:104702 a owl:Class ; @@ -3523,12 +3622,13 @@ OMIM:104702 a owl:Class ; PMID:6176528, PMID:6196780, PMID:6608795 ; - oboInOwl:hasDbXref UMLS:C1412393 ; oboInOwl:hasExactSynonym "AMY1C", "amylase, salivary, c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:278 ; - skos:exactMatch HGNC_symbol:AMY1C ; + skos:exactMatch UMLS:C1412393, + HGNC:476, + HGNC_symbol:AMY1C ; biolink:category biolink:Gene . OMIM:104740 a owl:Class ; @@ -3559,13 +3659,14 @@ OMIM:104750 a owl:Class ; PMID:7851899, PMID:8094371, PMID:8188252 ; - oboInOwl:hasDbXref UMLS:C1419799 ; oboInOwl:hasExactSynonym "SAA1", "amyloid a, serum", "serum amyloid a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6288 ; - skos:exactMatch HGNC_symbol:SAA1 ; + skos:exactMatch UMLS:C1419799, + HGNC:10513, + HGNC_symbol:SAA1 ; biolink:category biolink:Gene . OMIM:104751 a owl:Class ; @@ -3575,13 +3676,14 @@ OMIM:104751 a owl:Class ; PMID:7686132, PMID:8188252, PMID:8325654 ; - oboInOwl:hasDbXref UMLS:C1419800 ; oboInOwl:hasExactSynonym "SAA2", "amyloid a, serum, 2", "serum amyloid a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6289 ; - skos:exactMatch HGNC_symbol:SAA2 ; + skos:exactMatch UMLS:C1419800, + HGNC:10514, + HGNC_symbol:SAA2 ; biolink:category biolink:Gene . OMIM:104752 a owl:Class ; @@ -3591,14 +3693,15 @@ OMIM:104752 a owl:Class ; PMID:7686132, PMID:8188252, PMID:8661036 ; - oboInOwl:hasDbXref UMLS:C1419802 ; oboInOwl:hasExactSynonym "SAA4", "amyloid a, serum, 4", "serum amyloid a4", "serum amyloid a4, constitutive" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6291 ; - skos:exactMatch HGNC_symbol:SAA4 ; + skos:exactMatch UMLS:C1419802, + HGNC:10516, + HGNC_symbol:SAA4 ; biolink:category biolink:Gene . OMIM:104760 a owl:Class ; @@ -3845,7 +3948,14 @@ OMIM:104760 a owl:Class ; PMID:9848098 ; RO:0002525 CHR:9606chr21q21.3 ; RO:0003303 OMIM:605714 ; - oboInOwl:hasDbXref UMLS:C1364818, + oboInOwl:hasExactSynonym "APP", + "amyloid beta a4 precursor protein", + "amyloid of aging and alzheimer disease", + "cerebral vascular amyloid peptide", + "protease nexin 2" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:351 ; + skos:exactMatch UMLS:C1364818, UMLS:C1863052, UMLS:C1863053, UMLS:C2751494, @@ -3856,15 +3966,9 @@ OMIM:104760 a owl:Class ; UMLS:C3888309, UMLS:C4015784, UMLS:C4015785, - UMLS:C4015786 ; - oboInOwl:hasExactSynonym "APP", - "amyloid beta a4 precursor protein", - "amyloid of aging and alzheimer disease", - "cerebral vascular amyloid peptide", - "protease nexin 2" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:351 ; - skos:exactMatch HGNC_symbol:APP ; + UMLS:C4015786, + HGNC:620, + HGNC_symbol:APP ; biolink:category biolink:Gene . OMIM:104770 a owl:Class ; @@ -3880,14 +3984,15 @@ OMIM:104770 a owl:Class ; PMID:4055725, PMID:9256275 ; RO:0002525 CHR:9606chr1q23.2 ; - oboInOwl:hasDbXref UMLS:C1456795 ; oboInOwl:hasExactSynonym "APCS", "amyloid p component, serum", "pentraxin 2, short", "serum amyloid p" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:325 ; - skos:exactMatch HGNC_symbol:APCS ; + skos:exactMatch UMLS:C1456795, + HGNC:584, + HGNC_symbol:APCS ; biolink:category biolink:Gene . OMIM:104775 a owl:Class ; @@ -3896,14 +4001,15 @@ OMIM:104775 a owl:Class ; PMID:16344553, PMID:8432545, PMID:9521588 ; - oboInOwl:hasDbXref UMLS:C1412466 ; oboInOwl:hasExactSynonym "APLP1", "amyloid beta a4 precursor-like protein 1", "amyloid precursor-like protein", "amyloid precursor-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:333 ; - skos:exactMatch HGNC_symbol:APLP1 ; + skos:exactMatch UMLS:C1412466, + HGNC:597, + HGNC_symbol:APLP1 ; biolink:category biolink:Gene . OMIM:105150 a owl:Class ; @@ -3929,13 +4035,13 @@ OMIM:105150 a owl:Class ; PMID:7396423, PMID:7945009, PMID:9748011 ; - oboInOwl:hasDbXref UMLS:C1510489, - UMLS:C1527338 ; oboInOwl:hasExactSynonym "amyloidosis 6", "amyloidosis, cerebroarterial, icelandic iia", "cerebral amyloid angiopathy, cst3-related", "cerebral hemorrhage, hereditary, with amyloidosis", "hereditary cerebral hemorrhage with amyloidosis" ; + skos:exactMatch UMLS:C1510489, + UMLS:C1527338 ; biolink:category biolink:Disease . OMIM:105210 a owl:Class ; @@ -4008,38 +4114,38 @@ OMIM:105210 a owl:Class ; PMID:8960746, PMID:9017939, PMID:9066351 ; - oboInOwl:hasDbXref UMLS:C2751492, - UMLS:C3151470, - UMLS:C3151471 ; oboInOwl:hasExactSynonym "amyloid cardiomyopathy, transthyretin-related", "amyloid polyneuropathy, familial", "amyloidosis, hereditary, transthyretin-related", "amyloidosis, leptomeningeal, transthyretin-related", "hereditary amyloidosis, transthyretin-related", "transthyretin amyloidosis" ; + skos:exactMatch UMLS:C2751492, + UMLS:C3151470, + UMLS:C3151471 ; biolink:category biolink:Disease . OMIM:105300 a owl:Class ; rdfs:label "amyotrophic dystonic paraplegia" ; IAO:0000142 PMID:14152212 ; - oboInOwl:hasDbXref UMLS:C1862956 ; - oboInOwl:hasExactSynonym "amyotrophic dystonic paraplegia" . + oboInOwl:hasExactSynonym "amyotrophic dystonic paraplegia" ; + skos:exactMatch UMLS:C1862956 . OMIM:105565 a owl:Class ; rdfs:label "anal sphincter myopathy, internal" ; IAO:0000142 PMID:1993504, PMID:7737568 ; - oboInOwl:hasDbXref UMLS:C1862935 ; oboInOwl:hasExactSynonym "anal sphincter myopathy, internal", - "proctalgia fugax due to anal sphincter myopathy" . + "proctalgia fugax due to anal sphincter myopathy" ; + skos:exactMatch UMLS:C1862935 . OMIM:105570 a owl:Class ; rdfs:label "androstenone, ability to smell" ; IAO:0000142 PMID:2813372, PMID:6589634, PMID:9246445 ; - oboInOwl:hasDbXref UMLS:C1862934 ; - oboInOwl:hasExactSynonym "androstenone, ability to smell" . + oboInOwl:hasExactSynonym "androstenone, ability to smell" ; + skos:exactMatch UMLS:C1862934 . OMIM:105590 a owl:Class ; rdfs:label "ALK" ; @@ -4065,10 +4171,6 @@ OMIM:105590 a owl:Class ; PMID:9490693 ; RO:0002525 CHR:9606chr2p23.2-p23.1 ; RO:0003303 OMIM:613014 ; - oboInOwl:hasDbXref UMLS:C1332080, - UMLS:C3151472, - UMLS:C3151473, - UMLS:C3151474 ; oboInOwl:hasExactSynonym "ALK", "alk/cars fusion gene", "alk/cltc fusion gene", @@ -4078,7 +4180,12 @@ OMIM:105590 a owl:Class ; "anaplastic lymphoma kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:238 ; - skos:exactMatch HGNC_symbol:ALK ; + skos:exactMatch UMLS:C1332080, + UMLS:C3151472, + UMLS:C3151473, + UMLS:C3151474, + HGNC:427, + HGNC_symbol:ALK ; biolink:category biolink:Gene . OMIM:105805 a owl:Class ; @@ -4086,17 +4193,17 @@ OMIM:105805 a owl:Class ; IAO:0000142 PMID:1867942, PMID:3360529, PMID:3394619 ; - oboInOwl:hasDbXref UMLS:C1387721 ; - oboInOwl:hasExactSynonym "aneurysm of interventricular septum" . + oboInOwl:hasExactSynonym "aneurysm of interventricular septum" ; + skos:exactMatch UMLS:C1387721 . OMIM:105835 a owl:Class ; rdfs:label "angel-shaped phalangoepiphyseal dysplasia" ; IAO:0000142 PMID:12707967, PMID:6018472, PMID:8267010 ; - oboInOwl:hasDbXref UMLS:C1739384 ; oboInOwl:hasExactSynonym "ASPED", - "angel-shaped phalangoepiphyseal dysplasia" . + "angel-shaped phalangoepiphyseal dysplasia" ; + skos:exactMatch UMLS:C1739384 . OMIM:105850 a owl:Class ; rdfs:label "ANG" ; @@ -4121,13 +4228,14 @@ OMIM:105850 a owl:Class ; PMID:8530072 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:611895 ; - oboInOwl:hasDbXref UMLS:C1367482 ; oboInOwl:hasExactSynonym "ANG", "angiogenin", "ribonuclease a family, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283 ; - skos:exactMatch HGNC_symbol:ANG ; + skos:exactMatch UMLS:C1367482, + HGNC:483, + HGNC_symbol:ANG ; biolink:category biolink:Gene . OMIM:106050 a owl:Class ; @@ -4139,8 +4247,8 @@ OMIM:106050 a owl:Class ; PMID:17342156, PMID:7451703, PMID:8567268 ; - oboInOwl:hasDbXref UMLS:C1970130 ; - oboInOwl:hasExactSynonym "angioma serpiginosum, autosomal dominant" . + oboInOwl:hasExactSynonym "angioma serpiginosum, autosomal dominant" ; + skos:exactMatch UMLS:C1970130 . OMIM:106070 a owl:Class ; rdfs:label "angioma, hereditary neurocutaneous" ; @@ -4151,12 +4259,12 @@ OMIM:106070 a owl:Class ; PMID:7189031, PMID:7191526, PMID:998575 ; - oboInOwl:hasDbXref UMLS:C1275084, - UMLS:C1862897, - UMLS:C1862898 ; oboInOwl:hasExactSynonym "angioma, hereditary neurocutaneous", "hemangiomatosis, disseminated", "spinal arterial venous malformations with cutaneous hemangiomas" ; + skos:exactMatch UMLS:C1275084, + UMLS:C1862897, + UMLS:C1862898 ; biolink:category biolink:Disease . OMIM:106100 a owl:Class ; @@ -4233,9 +4341,6 @@ OMIM:106100 a owl:Class ; PMID:8628358, PMID:8628365, PMID:8755917 ; - oboInOwl:hasDbXref UMLS:C0019243, - UMLS:C1862892, - UMLS:C2717906 ; oboInOwl:hasExactSynonym "HAE1", "angioedema, hereditary, iia 1", "angioedema, hereditary, iia 2", @@ -4244,6 +4349,9 @@ OMIM:106100 a owl:Class ; "angioneurotic edema, hereditary", "c1 esterase inhibitor deficiency" ; rdfs:subClassOf OMIMPS:106100 ; + skos:exactMatch UMLS:C0019243, + UMLS:C1862892, + UMLS:C2717906 ; biolink:category biolink:Disease . OMIM:106150 a owl:Class ; @@ -4311,8 +4419,6 @@ OMIM:106150 a owl:Class ; PMID:9831339, PMID:9894356 ; RO:0002525 CHR:9606chr1q42.2 ; - oboInOwl:hasDbXref UMLS:C1366631, - UMLS:C1862886 ; oboInOwl:hasExactSynonym "AGT", "angiotensin 1", "angiotensin 2", @@ -4321,7 +4427,10 @@ OMIM:106150 a owl:Class ; "serpina8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:183 ; - skos:exactMatch HGNC_symbol:AGT ; + skos:exactMatch UMLS:C1366631, + UMLS:C1862886, + HGNC:333, + HGNC_symbol:AGT ; biolink:category biolink:Gene . OMIM:106160 a owl:Class ; @@ -4428,10 +4537,6 @@ OMIM:106180 a owl:Class ; PMID:9916793 ; RO:0002525 CHR:9606chr17q23.3 ; RO:0003303 OMIM:614519 ; - oboInOwl:hasDbXref UMLS:C1413931, - UMLS:C1862873, - UMLS:C1862874, - UMLS:C1862886 ; oboInOwl:hasExactSynonym "ACE", "ace1", "angiotensin i-converting enzyme", @@ -4443,7 +4548,12 @@ OMIM:106180 a owl:Class ; "kininase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1636 ; - skos:exactMatch HGNC_symbol:ACE ; + skos:exactMatch UMLS:C1413931, + UMLS:C1862873, + UMLS:C1862874, + UMLS:C1862886, + HGNC:2707, + HGNC_symbol:ACE ; biolink:category biolink:Gene . OMIM:106195 a owl:Class ; @@ -4452,7 +4562,6 @@ OMIM:106195 a owl:Class ; PMID:2686841, PMID:7894173, PMID:8001971 ; - oboInOwl:hasDbXref UMLS:C1420195 ; oboInOwl:hasExactSynonym "SLC4A3", "anion exchanger 3", "anion exchanger, neuronal", @@ -4460,7 +4569,9 @@ OMIM:106195 a owl:Class ; "solute carrier family 4 (anion exchanger), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6508 ; - skos:exactMatch HGNC_symbol:SLC4A3 ; + skos:exactMatch UMLS:C1420195, + HGNC:11029, + HGNC_symbol:SLC4A3 ; biolink:category biolink:Gene . OMIM:106200 a owl:Class ; @@ -4469,21 +4580,21 @@ OMIM:106200 a owl:Class ; OMIM:106220 a owl:Class ; rdfs:label "aniridia and absent patella" ; - oboInOwl:hasDbXref UMLS:C1862868 ; - oboInOwl:hasExactSynonym "aniridia and absent patella" . + oboInOwl:hasExactSynonym "aniridia and absent patella" ; + skos:exactMatch UMLS:C1862868 . OMIM:106230 a owl:Class ; rdfs:label "aniridia, microcornea, and spontaneously reabsorbed cataract" ; IAO:0000142 PMID:3355417 ; - oboInOwl:hasDbXref UMLS:C1862867 ; oboInOwl:hasExactSynonym "aniridia, microcornea, and spontaneously reabsorbed cataract" ; + skos:exactMatch UMLS:C1862867 ; biolink:category biolink:Disease . OMIM:106240 a owl:Class ; rdfs:label "anisocoria" ; IAO:0000142 PMID:2330952 ; - oboInOwl:hasDbXref UMLS:C0003079 ; - oboInOwl:hasExactSynonym "anisocoria" . + oboInOwl:hasExactSynonym "anisocoria" ; + skos:exactMatch UMLS:C0003079 . OMIM:106260 a owl:Class ; rdfs:label "ankyloblepharon-ectodermal defects-cleft lip/palate" ; @@ -4503,12 +4614,12 @@ OMIM:106260 a owl:Class ; PMID:3839246, PMID:8411079, PMID:946410 ; - oboInOwl:hasDbXref UMLS:C0406709, - ORPHA:1071 ; oboInOwl:hasExactSynonym "AEC", "aec syndrome", "ankyloblepharon-ectodermal defects-cleft lip/palate", "hay-wells syndrome" ; + skos:exactMatch UMLS:C0406709, + ORPHA:1071 ; biolink:category biolink:Disease . OMIM:106280 a owl:Class ; @@ -4519,11 +4630,11 @@ OMIM:106280 a owl:Class ; PMID:20042737, PMID:28384993, PMID:29704302 ; - oboInOwl:hasDbXref UMLS:C4759698 ; oboInOwl:hasExactSynonym "'tongue-tie'", "ANKG", "ankyloglossia", - "ankyloglossia with or without tooth anomalies" . + "ankyloglossia with or without tooth anomalies" ; + skos:exactMatch UMLS:C4759698 . OMIM:106300 a owl:Class ; rdfs:label "spondyloarthropathy, susceptibility to, 1" ; @@ -4572,13 +4683,13 @@ OMIM:106300 a owl:Class ; PMID:8415702, PMID:9336417, PMID:9519942 ; - oboInOwl:hasDbXref UMLS:C1862852 ; oboInOwl:hasExactSynonym "SPDA1", "ankylosing spondylitis, susceptibility to", "bechterew syndrome", "marie-strumpell spondylitis", "spondyloarthropathy, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:106300 ; + skos:exactMatch UMLS:C1862852 ; biolink:category biolink:Disease . OMIM:106400 a owl:Class ; @@ -4588,9 +4699,9 @@ OMIM:106400 a owl:Class ; PMID:2322769, PMID:3899489, PMID:5346342 ; - oboInOwl:hasDbXref UMLS:C0020498 ; oboInOwl:hasExactSynonym "ankylosing vertebral hyperostosis with tylosis", - "diffuse idiopathic skeletal hyperostosis" . + "diffuse idiopathic skeletal hyperostosis" ; + skos:exactMatch UMLS:C0020498 . OMIM:106410 a owl:Class ; rdfs:label "ANK2" ; @@ -4605,10 +4716,6 @@ OMIM:106410 a owl:Class ; PMID:7485162 ; RO:0002525 CHR:9606chr4q25-q26 ; RO:0003303 OMIM:600919 ; - oboInOwl:hasDbXref UMLS:C1412403, - UMLS:C1833154, - UMLS:C1970119, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "ANK2", "ankyrin 2", "ankyrin, brain", @@ -4617,7 +4724,12 @@ OMIM:106410 a owl:Class ; "ankyrin-b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:287 ; - skos:exactMatch HGNC_symbol:ANK2 ; + skos:exactMatch UMLS:C1412403, + UMLS:C1833154, + UMLS:C1970119, + UMLS:C4015968, + HGNC:493, + HGNC_symbol:ANK2 ; biolink:category biolink:Gene . OMIM:106490 a owl:Class ; @@ -4626,14 +4738,15 @@ OMIM:106490 a owl:Class ; PMID:2968983, PMID:2975506, PMID:8276419 ; - oboInOwl:hasDbXref UMLS:C1412424 ; oboInOwl:hasExactSynonym "ANXA3", "annexin 3", "annexin a3", "lipocortin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:306 ; - skos:exactMatch HGNC_symbol:ANXA3 ; + skos:exactMatch UMLS:C1412424, + HGNC:541, + HGNC_symbol:ANXA3 ; biolink:category biolink:Gene . OMIM:106491 a owl:Class ; @@ -4642,7 +4755,6 @@ OMIM:106491 a owl:Class ; PMID:1346776, PMID:2530088, PMID:8188273 ; - oboInOwl:hasDbXref UMLS:C1412425 ; oboInOwl:hasExactSynonym "ANXA4", "annexin 4", "annexin a4", @@ -4650,33 +4762,35 @@ OMIM:106491 a owl:Class ; "zymogen granule membrane-associated protein, 36-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:307 ; - skos:exactMatch HGNC_symbol:ANXA4 ; + skos:exactMatch UMLS:C1412425, + HGNC:542, + HGNC_symbol:ANXA4 ; biolink:category biolink:Gene . OMIM:106500 a owl:Class ; rdfs:label "annular erythema" ; IAO:0000142 PMID:5908098 ; - oboInOwl:hasDbXref UMLS:C0234906 ; - oboInOwl:hasExactSynonym "annular erythema" . + oboInOwl:hasExactSynonym "annular erythema" ; + skos:exactMatch UMLS:C0234906 . OMIM:106750 a owl:Class ; rdfs:label "anonychia with flexural pigmentation" ; IAO:0000142 PMID:1156563 ; - oboInOwl:hasDbXref UMLS:C1862844 ; - oboInOwl:hasExactSynonym "anonychia with flexural pigmentation" . + oboInOwl:hasExactSynonym "anonychia with flexural pigmentation" ; + skos:exactMatch UMLS:C1862844 . OMIM:106900 a owl:Class ; rdfs:label "anonychia-ectrodactyly" ; IAO:0000142 PMID:13488188 ; - oboInOwl:hasDbXref UMLS:C1862843 ; - oboInOwl:hasExactSynonym "anonychia-ectrodactyly" . + oboInOwl:hasExactSynonym "anonychia-ectrodactyly" ; + skos:exactMatch UMLS:C1862843 . OMIM:106990 a owl:Class ; rdfs:label "anonychia-onychodystrophy with brachydactyly iia B and ectrodactyly" ; IAO:0000142 PMID:17163524, PMID:3780038 ; - oboInOwl:hasDbXref UMLS:C1862842 ; - oboInOwl:hasExactSynonym "anonychia-onychodystrophy with brachydactyly iia B and ectrodactyly" . + oboInOwl:hasExactSynonym "anonychia-onychodystrophy with brachydactyly iia B and ectrodactyly" ; + skos:exactMatch UMLS:C1862842 . OMIM:106995 a owl:Class ; rdfs:label "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges" ; @@ -4689,10 +4803,10 @@ OMIM:106995 a owl:Class ; PMID:7315521, PMID:7473658, PMID:7981857 ; - oboInOwl:hasDbXref UMLS:C1862841, - ORPHA:1487 ; oboInOwl:hasExactSynonym "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges", "cooks syndrome" ; + skos:exactMatch UMLS:C1862841, + ORPHA:1487 ; biolink:category biolink:Disease . OMIM:107100 a owl:Class ; @@ -4700,8 +4814,8 @@ OMIM:107100 a owl:Class ; IAO:0000142 PMID:13424267, PMID:6627722, PMID:9268096 ; - oboInOwl:hasDbXref UMLS:C3495676 ; oboInOwl:hasExactSynonym "anorectal anomalies" ; + skos:exactMatch UMLS:C3495676 ; biolink:category biolink:Disease . OMIM:107240 a owl:Class ; @@ -4714,10 +4828,10 @@ OMIM:107253 a owl:Class ; OMIM:107254 a owl:Class ; rdfs:label "antigen identified by monoclonal antibody 30.2a8" ; IAO:0000142 PMID:3979119 ; - oboInOwl:hasDbXref UMLS:C1417155 ; oboInOwl:hasExactSynonym "MIC12", "antigen identified by monoclonal antibody 30.2a8", - "leukocyte antigen mic12" . + "leukocyte antigen mic12" ; + skos:exactMatch UMLS:C1417155 . OMIM:107257 a owl:Class ; IAO:0100001 OMIM:143030 ; @@ -4725,9 +4839,9 @@ OMIM:107257 a owl:Class ; OMIM:107260 a owl:Class ; rdfs:label "antigen msk41 identified by monoclonal antibody e3" ; - oboInOwl:hasDbXref UMLS:C1862836 ; oboInOwl:hasExactSynonym "MSK41", - "antigen msk41 identified by monoclonal antibody e3" . + "antigen msk41 identified by monoclonal antibody e3" ; + skos:exactMatch UMLS:C1862836 . OMIM:107265 a owl:Class ; rdfs:label "CD19" ; @@ -4749,14 +4863,15 @@ OMIM:107265 a owl:Class ; PMID:7513297 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:613493 ; - oboInOwl:hasDbXref UMLS:C1413206, - UMLS:C3150738 ; oboInOwl:hasExactSynonym "CD19", "b-lymphocyte antigen cd19", "cd19 antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:930 ; - skos:exactMatch HGNC_symbol:CD19 ; + skos:exactMatch UMLS:C1413206, + UMLS:C3150738, + HGNC:1633, + HGNC_symbol:CD19 ; biolink:category biolink:Gene . OMIM:107266 a owl:Class ; @@ -4770,14 +4885,15 @@ OMIM:107266 a owl:Class ; PMID:30944478, PMID:8496602, PMID:8864124 ; - oboInOwl:hasDbXref UMLS:C1332708 ; oboInOwl:hasExactSynonym "CD22", "b-cell antigen cd22", "cd22 antigen", "sialic acid-binding immunoglobulin-like lectin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:933 ; - skos:exactMatch HGNC_symbol:CD22 ; + skos:exactMatch UMLS:C1332708, + HGNC:1643, + HGNC_symbol:CD22 ; biolink:category biolink:Gene . OMIM:107269 a owl:Class ; @@ -4819,7 +4935,6 @@ OMIM:107269 a owl:Class ; PMID:9531542 ; RO:0002525 CHR:9606chr11p13 ; RO:0003303 OMIM:609027 ; - oboInOwl:hasDbXref UMLS:C1332712 ; oboInOwl:hasExactSynonym "CD44", "cd44 antigen", "hermes antigen", @@ -4828,7 +4943,9 @@ OMIM:107269 a owl:Class ; "pgp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:960 ; - skos:exactMatch HGNC_symbol:CD44 ; + skos:exactMatch UMLS:C1332712, + HGNC:1681, + HGNC_symbol:CD44 ; biolink:category biolink:Gene . OMIM:107270 a owl:Class ; @@ -4844,14 +4961,15 @@ OMIM:107270 a owl:Class ; PMID:8420005, PMID:9378973, PMID:9694721 ; - oboInOwl:hasDbXref UMLS:C1413221 ; oboInOwl:hasExactSynonym "CD38", "adp-ribosyl cyclase/cyclic adp-ribose hydrolase", "cd38 antigen", "ecto-nicotinamide adenine dinucleotide glycohydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:952 ; - skos:exactMatch HGNC_symbol:CD38 ; + skos:exactMatch UMLS:C1413221, + HGNC:1667, + HGNC_symbol:CD38 ; biolink:category biolink:Gene . OMIM:107272 a owl:Class ; @@ -4860,13 +4978,14 @@ OMIM:107272 a owl:Class ; PMID:11114375, PMID:15459183, PMID:2044654 ; - oboInOwl:hasDbXref UMLS:C1332716 ; oboInOwl:hasExactSynonym "CD72", "cd72 antigen", "lyb2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:971 ; - skos:exactMatch HGNC_symbol:CD72 ; + skos:exactMatch UMLS:C1332716, + HGNC:1696, + HGNC_symbol:CD72 ; biolink:category biolink:Gene . OMIM:107273 a owl:Class ; @@ -4876,13 +4995,14 @@ OMIM:107273 a owl:Class ; PMID:1612643, PMID:16525420, PMID:8340758 ; - oboInOwl:hasDbXref UMLS:C1413235 ; oboInOwl:hasExactSynonym "CD69", "cd69 antigen", "early t-cell activation antigen p60" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:969 ; - skos:exactMatch HGNC_symbol:CD69 ; + skos:exactMatch UMLS:C1413235, + HGNC:1694, + HGNC_symbol:CD69 ; biolink:category biolink:Gene . OMIM:107280 a owl:Class ; @@ -4910,14 +5030,15 @@ OMIM:107280 a owl:Class ; PMID:9219874, PMID:9932947 ; RO:0002525 CHR:9606chr14q32.13 ; - oboInOwl:hasDbXref UMLS:C1412050 ; oboInOwl:hasExactSynonym "SERPINA3", "alpha-1-antichymotrypsin", "antichymotrypsin, alpha-1", "serpin peptidase inhibitor, clade a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:12 ; - skos:exactMatch HGNC_symbol:SERPINA3 ; + skos:exactMatch UMLS:C1412050, + HGNC:16, + HGNC_symbol:SERPINA3 ; biolink:category biolink:Gene . OMIM:107285 a owl:Class ; @@ -4933,14 +5054,15 @@ OMIM:107285 a owl:Class ; PMID:3485543, PMID:3533531, PMID:3640338 ; - oboInOwl:hasDbXref UMLS:C1366565 ; oboInOwl:hasExactSynonym "SLPI", "antileukoprotease", "human seminal proteinase inhibitor", "secretory leukocyte protease inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6590 ; - skos:exactMatch HGNC_symbol:SLPI ; + skos:exactMatch UMLS:C1366565, + HGNC:11092, + HGNC_symbol:SLPI ; biolink:category biolink:Gene . OMIM:107290 a owl:Class ; @@ -4949,8 +5071,8 @@ OMIM:107290 a owl:Class ; PMID:6863539, PMID:6946467, PMID:7401910 ; - oboInOwl:hasDbXref UMLS:C1862824 ; oboInOwl:hasExactSynonym "antipyrine metabolism" ; + skos:exactMatch UMLS:C1862824 ; biolink:category biolink:Disease . OMIM:107300 a owl:Class ; @@ -5094,7 +5216,6 @@ OMIM:107300 a owl:Class ; PMID:9845533 ; RO:0002525 CHR:9606chr1q25.1 ; RO:0003303 OMIM:613118 ; - oboInOwl:hasDbXref UMLS:C1412610 ; oboInOwl:hasExactSynonym "SERPINC1", "antithrombin", "antithrombin 3", @@ -5102,7 +5223,9 @@ OMIM:107300 a owl:Class ; "serpin peptidase inhibitor, clade c (antithrombin), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:462 ; - skos:exactMatch HGNC_symbol:SERPINC1 ; + skos:exactMatch UMLS:C1412610, + HGNC:775, + HGNC_symbol:SERPINC1 ; biolink:category biolink:Gene . OMIM:107310 a owl:Class ; @@ -5124,9 +5247,6 @@ OMIM:107310 a owl:Class ; PMID:9335342 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:616291 ; - oboInOwl:hasDbXref UMLS:C1420232, - UMLS:C2986382, - UMLS:C4225383 ; oboInOwl:hasExactSynonym "SLC9A1", "antiporter, sodium-hydrogen ion, amiloride-sensitive", "na+/h+ antiporter", @@ -5134,7 +5254,11 @@ OMIM:107310 a owl:Class ; "solute carrier family 9, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6548 ; - skos:exactMatch HGNC_symbol:SLC9A1 ; + skos:exactMatch UMLS:C1420232, + UMLS:C2986382, + UMLS:C4225383, + HGNC:11071, + HGNC_symbol:SLC9A1 ; biolink:category biolink:Gene . OMIM:107323 a owl:Class ; @@ -5149,7 +5273,6 @@ OMIM:107323 a owl:Class ; PMID:9417906 ; RO:0002525 CHR:9606chr5q23.2 ; RO:0003303 OMIM:266100 ; - oboInOwl:hasDbXref UMLS:C1412691 ; oboInOwl:hasExactSynonym "ALDH7A1", "aasa dehydrogenase", "aldehyde dehydrogenase 7 family, member a1", @@ -5158,13 +5281,14 @@ OMIM:107323 a owl:Class ; "antiquitin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:501 ; - skos:exactMatch HGNC_symbol:ALDH7A1 ; + skos:exactMatch UMLS:C1412691, + HGNC:877, + HGNC_symbol:ALDH7A1 ; biolink:category biolink:Gene . OMIM:107325 a owl:Class ; rdfs:label "CD3EAP" ; IAO:0000142 PMID:15226435 ; - oboInOwl:hasDbXref UMLS:C1539080 ; oboInOwl:hasExactSynonym "CD3EAP", "antisense ercc1", "cd3 antigen, epsilon-associated protein", @@ -5172,7 +5296,9 @@ OMIM:107325 a owl:Class ; "polymerase i-associated factor, 49-kd, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10849 ; - skos:exactMatch HGNC_symbol:POLR1G ; + skos:exactMatch UMLS:C1539080, + HGNC:24219, + HGNC_symbol:POLR1G ; biolink:category biolink:Gene . OMIM:107400 a owl:Class ; @@ -5308,7 +5434,6 @@ OMIM:107400 a owl:Class ; PMID:9692092 ; RO:0002525 CHR:9606chr14q32.13 ; RO:0003303 OMIM:613490 ; - oboInOwl:hasDbXref UMLS:C1418544 ; oboInOwl:hasExactSynonym "SERPINA1", "alpha-1-antitrypsin", "anti-elastase", @@ -5318,14 +5443,16 @@ OMIM:107400 a owl:Class ; "serpin peptidase inhibitor, clade a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5265 ; - skos:exactMatch HGNC_symbol:SERPINA1 ; + skos:exactMatch UMLS:C1418544, + HGNC:8941, + HGNC_symbol:SERPINA1 ; biolink:category biolink:Gene . OMIM:107440 a owl:Class ; rdfs:label "antiviral state repressor, regulator of" ; - oboInOwl:hasDbXref UMLS:C1862714 ; oboInOwl:hasExactSynonym "AVRR", - "antiviral state repressor, regulator of" . + "antiviral state repressor, regulator of" ; + skos:exactMatch UMLS:C1862714 . OMIM:107460 a owl:Class ; IAO:0100001 OMIM:107450 ; @@ -5375,13 +5502,6 @@ OMIM:107470 a owl:Class ; PMID:9636188 ; RO:0002525 CHR:9606chr6q23.3 ; RO:0003303 OMIM:607948 ; - oboInOwl:hasDbXref UMLS:C1334083, - UMLS:C1834752, - UMLS:C1838332, - UMLS:C1864880, - UMLS:C1969665, - UMLS:C4011949, - UMLS:C4014863 ; oboInOwl:hasExactSynonym "IFNGR1", "antiviral protein, iia 2", "avp, iia 2", @@ -5390,21 +5510,29 @@ OMIM:107470 a owl:Class ; "interferon-gamma receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3459 ; - skos:exactMatch HGNC_symbol:IFNGR1 ; + skos:exactMatch UMLS:C1334083, + UMLS:C1834752, + UMLS:C1838332, + UMLS:C1864880, + UMLS:C1969665, + UMLS:C4011949, + UMLS:C4014863, + HGNC:5439, + HGNC_symbol:IFNGR1 ; biolink:category biolink:Gene . OMIM:107500 a owl:Class ; rdfs:label "aortic arch anomaly with peculiar facies and mental retardation" ; IAO:0000142 PMID:5696314 ; - oboInOwl:hasDbXref UMLS:C1862682 ; - oboInOwl:hasExactSynonym "aortic arch anomaly with peculiar facies and mental retardation" . + oboInOwl:hasExactSynonym "aortic arch anomaly with peculiar facies and mental retardation" ; + skos:exactMatch UMLS:C1862682 . OMIM:107550 a owl:Class ; rdfs:label "aortic arch interruption, facial palsy, and retinal coloboma" ; IAO:0000142 PMID:4725150, PMID:4951371 ; - oboInOwl:hasDbXref UMLS:C1862681 ; - oboInOwl:hasExactSynonym "aortic arch interruption, facial palsy, and retinal coloboma" . + oboInOwl:hasExactSynonym "aortic arch interruption, facial palsy, and retinal coloboma" ; + skos:exactMatch UMLS:C1862681 . OMIM:107580 a owl:Class ; rdfs:label "TFAP2A" ; @@ -5434,7 +5562,6 @@ OMIM:107580 a owl:Class ; PMID:8824807 ; RO:0002525 CHR:9606chr6p24.3 ; RO:0003303 OMIM:113620 ; - oboInOwl:hasDbXref UMLS:C0919496 ; oboInOwl:hasExactSynonym "TFAP2A", "activating enhancer-binding protein 2-alpha", "ap2", @@ -5443,7 +5570,9 @@ OMIM:107580 a owl:Class ; "transcription factor ap2-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7020 ; - skos:exactMatch HGNC_symbol:TFAP2A ; + skos:exactMatch UMLS:C0919496, + HGNC:11742, + HGNC_symbol:TFAP2A ; biolink:category biolink:Gene . OMIM:107601 a owl:Class ; @@ -5452,8 +5581,8 @@ OMIM:107601 a owl:Class ; OMIM:107640 a owl:Class ; rdfs:label "apnea, central sleep" ; - oboInOwl:hasDbXref UMLS:C0520680 ; - oboInOwl:hasExactSynonym "apnea, central sleep" . + oboInOwl:hasExactSynonym "apnea, central sleep" ; + skos:exactMatch UMLS:C0520680 . OMIM:107650 a owl:Class ; rdfs:label "apnea, obstructive sleep" ; @@ -5474,11 +5603,11 @@ OMIM:107650 a owl:Class ; PMID:7781344, PMID:8153920, PMID:8153952 ; - oboInOwl:hasDbXref UMLS:C0520679 ; oboInOwl:hasExactSynonym "apnea, obstructive sleep", "obstructive sleep apnea syndrome", "osa", "sleep apnea/hypopnea syndrome" ; + skos:exactMatch UMLS:C0520679 ; biolink:category biolink:Disease . OMIM:107670 a owl:Class ; @@ -5503,14 +5632,15 @@ OMIM:107670 a owl:Class ; PMID:8248186 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:143890 ; - oboInOwl:hasDbXref UMLS:C1412469, - UMLS:C3888202 ; oboInOwl:hasExactSynonym "APOA2", "apolipoprotein a-ii", "apolipoprotein a-ii deficiency" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:336 ; - skos:exactMatch HGNC_symbol:APOA2 ; + skos:exactMatch UMLS:C1412469, + UMLS:C3888202, + HGNC:601, + HGNC_symbol:APOA2 ; biolink:category biolink:Gene . OMIM:107680 a owl:Class ; @@ -5608,7 +5738,13 @@ OMIM:107680 a owl:Class ; PMID:9931341 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:618463 ; - oboInOwl:hasDbXref UMLS:C0268389, + oboInOwl:hasExactSynonym "APOA1", + "apoa1/apoc3 fusion gene", + "apolipoprotein a-i", + "apolipoprotein of high density lipoprotein" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:335 ; + skos:exactMatch UMLS:C0268389, UMLS:C0342608, UMLS:C0342898, UMLS:C1412468, @@ -5628,14 +5764,9 @@ OMIM:107680 a owl:Class ; UMLS:C4017420, UMLS:C4017713, UMLS:C5231502, - UMLS:C5231503 ; - oboInOwl:hasExactSynonym "APOA1", - "apoa1/apoc3 fusion gene", - "apolipoprotein a-i", - "apolipoprotein of high density lipoprotein" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:335 ; - skos:exactMatch HGNC_symbol:APOA1 ; + UMLS:C5231503, + HGNC:600, + HGNC_symbol:APOA1 ; biolink:category biolink:Gene . OMIM:107690 a owl:Class ; @@ -5658,12 +5789,13 @@ OMIM:107690 a owl:Class ; PMID:7166311, PMID:8688083, PMID:9109435 ; - oboInOwl:hasDbXref UMLS:C1412470 ; oboInOwl:hasExactSynonym "APOA4", "apolipoprotein a-iv" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:337 ; - skos:exactMatch HGNC_symbol:APOA4 ; + skos:exactMatch UMLS:C1412470, + HGNC:602, + HGNC_symbol:APOA4 ; biolink:category biolink:Gene . OMIM:107700 a owl:Class ; @@ -5672,8 +5804,8 @@ OMIM:107700 a owl:Class ; PMID:28548445, PMID:3129106, PMID:3129107 ; - oboInOwl:hasDbXref UMLS:C1862632 ; - oboInOwl:hasExactSynonym "appendicitis, proneness to" . + oboInOwl:hasExactSynonym "appendicitis, proneness to" ; + skos:exactMatch UMLS:C1862632 . OMIM:107710 a owl:Class ; rdfs:label "APOC1" ; @@ -5690,12 +5822,13 @@ OMIM:107710 a owl:Class ; PMID:3017837, PMID:3459164, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1412475 ; oboInOwl:hasExactSynonym "APOC1", "apolipoprotein c-i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:341 ; - skos:exactMatch HGNC_symbol:APOC1 ; + skos:exactMatch UMLS:C1412475, + HGNC:607, + HGNC_symbol:APOC1 ; biolink:category biolink:Gene . OMIM:107720 a owl:Class ; @@ -5728,14 +5861,15 @@ OMIM:107720 a owl:Class ; PMID:9691099 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:614028 ; - oboInOwl:hasDbXref UMLS:C1412478, - UMLS:C3152050 ; oboInOwl:hasExactSynonym "APOC3", "apoc3/apoa1 fusion gene", "apolipoprotein c-iii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345 ; - skos:exactMatch HGNC_symbol:APOC3 ; + skos:exactMatch UMLS:C1412478, + UMLS:C3152050, + HGNC:610, + HGNC_symbol:APOC3 ; biolink:category biolink:Gene . OMIM:107730 a owl:Class ; @@ -5872,11 +6006,6 @@ OMIM:107730 a owl:Class ; PMID:9603795 ; RO:0002525 CHR:9606chr2p24.1 ; RO:0003303 OMIM:615558 ; - oboInOwl:hasDbXref UMLS:C0103839, - UMLS:C1412471, - UMLS:C1862594, - UMLS:C1862595, - UMLS:C3252643 ; oboInOwl:hasExactSynonym "APOB", "ag lipoprotein types", "apob100", @@ -5885,7 +6014,13 @@ OMIM:107730 a owl:Class ; "apolipoprotein B allotypes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338 ; - skos:exactMatch HGNC_symbol:APOB ; + skos:exactMatch UMLS:C0103839, + UMLS:C1412471, + UMLS:C1862594, + UMLS:C1862595, + UMLS:C3252643, + HGNC:603, + HGNC_symbol:APOB ; biolink:category biolink:Gene . OMIM:107740 a owl:Class ; @@ -5901,12 +6036,13 @@ OMIM:107740 a owl:Class ; PMID:7191131, PMID:7291434, PMID:8692868 ; - oboInOwl:hasDbXref UMLS:C1412480 ; oboInOwl:hasExactSynonym "APOD", "apolipoprotein d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347 ; - skos:exactMatch HGNC_symbol:APOD ; + skos:exactMatch UMLS:C1412480, + HGNC:612, + HGNC_symbol:APOD ; biolink:category biolink:Gene . OMIM:107741 a owl:Class ; @@ -6223,7 +6359,11 @@ OMIM:107741 a owl:Class ; PMID:9932938 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:617347 ; - oboInOwl:hasDbXref UMLS:C0036489, + oboInOwl:hasExactSynonym "APOE", + "apolipoprotein e" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:348 ; + skos:exactMatch UMLS:C0036489, UMLS:C1412481, UMLS:C1862591, UMLS:C2673196, @@ -6256,12 +6396,9 @@ OMIM:107741 a owl:Class ; UMLS:C5231510, UMLS:C5231555, UMLS:C5231556, - UMLS:C5231557 ; - oboInOwl:hasExactSynonym "APOE", - "apolipoprotein e" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:348 ; - skos:exactMatch HGNC_symbol:APOE ; + UMLS:C5231557, + HGNC:613, + HGNC_symbol:APOE ; biolink:category biolink:Gene . OMIM:107750 a owl:Class ; @@ -6276,12 +6413,12 @@ OMIM:107750 a owl:Class ; PMID:6935681, PMID:728996, PMID:86686 ; - oboInOwl:hasDbXref UMLS:C1862555 ; oboInOwl:hasExactSynonym "anonymous restriction polymorphism 1", "arbitrary restriction polymorphism 1", "arp-14a", "restriction fragment length polymorphism 14a", - "rflp-14a" . + "rflp-14a" ; + skos:exactMatch UMLS:C1862555 . OMIM:107760 a owl:Class ; rdfs:label "APOF" ; @@ -6289,13 +6426,14 @@ OMIM:107760 a owl:Class ; PMID:6816269, PMID:8093033, PMID:9880564 ; - oboInOwl:hasDbXref UMLS:C1412483 ; oboInOwl:hasExactSynonym "APOF", "apolipoprotein f", "lipid transfer inhibitor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:319 ; - skos:exactMatch HGNC_symbol:APOF ; + skos:exactMatch UMLS:C1412483, + HGNC:615, + HGNC_symbol:APOF ; biolink:category biolink:Gene . OMIM:107770 a owl:Class ; @@ -6341,9 +6479,6 @@ OMIM:107770 a owl:Class ; PMID:9637403 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:604093 ; - oboInOwl:hasDbXref UMLS:C0263428, - UMLS:C1416912, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "LRP1", "alpha-2-macroglobulin receptor", "apolipoprotein e receptor", @@ -6354,7 +6489,11 @@ OMIM:107770 a owl:Class ; "low density lipoprotein receptor-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4035 ; - skos:exactMatch HGNC_symbol:LRP1 ; + skos:exactMatch UMLS:C0263428, + UMLS:C1416912, + UMLS:C2986382, + HGNC:6692, + HGNC_symbol:LRP1 ; biolink:category biolink:Gene . OMIM:107773 a owl:Class ; @@ -6383,9 +6522,6 @@ OMIM:107773 a owl:Class ; PMID:8530078 ; RO:0002525 CHR:9606chr15q26.2 ; RO:0003303 OMIM:615779 ; - oboInOwl:hasDbXref UMLS:C1417834, - UMLS:C4014310, - UMLS:C5394441 ; oboInOwl:hasExactSynonym "NR2F2", "apolipoprotein regulatory protein 1", "chicken ovalbumin upstream promoter transcription factor 2", @@ -6393,7 +6529,11 @@ OMIM:107773 a owl:Class ; "transcription factor coup 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7026 ; - skos:exactMatch HGNC_symbol:NR2F2 ; + skos:exactMatch UMLS:C1417834, + UMLS:C4014310, + UMLS:C5394441, + HGNC:7976, + HGNC_symbol:NR2F2 ; biolink:category biolink:Gene . OMIM:107777 a owl:Class ; @@ -6423,13 +6563,14 @@ OMIM:107777 a owl:Class ; PMID:9745427 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:125800 ; - oboInOwl:hasDbXref UMLS:C1412492 ; oboInOwl:hasExactSynonym "AQP2", "aquaporin 2", "aquaporin-cd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:359 ; - skos:exactMatch HGNC_symbol:AQP2 ; + skos:exactMatch UMLS:C1412492, + HGNC:634, + HGNC_symbol:AQP2 ; biolink:category biolink:Gene . OMIM:107800 a owl:Class ; @@ -6438,10 +6579,10 @@ OMIM:107800 a owl:Class ; PMID:22110074, PMID:5713918, PMID:9894796 ; - oboInOwl:hasDbXref UMLS:C0003742 ; oboInOwl:hasExactSynonym "arcus corneae", "arcus senilis", - "corneal arcus" . + "corneal arcus" ; + skos:exactMatch UMLS:C0003742 . OMIM:107820 a owl:Class ; rdfs:label "RARS1" ; @@ -6452,14 +6593,15 @@ OMIM:107820 a owl:Class ; PMID:7590355 ; RO:0002525 CHR:9606chr5q34 ; RO:0003303 OMIM:616140 ; - oboInOwl:hasDbXref UMLS:C1419276 ; oboInOwl:hasExactSynonym "RARS1", "arginyl-trna synthetase 1", "arginyl-trna synthetase, cytoplasmic", "rars" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5917 ; - skos:exactMatch HGNC_symbol:RARS1 ; + skos:exactMatch UMLS:C1419276, + HGNC:9870, + HGNC_symbol:RARS1 ; biolink:category biolink:Gene . OMIM:107830 a owl:Class ; @@ -6472,12 +6614,13 @@ OMIM:107830 a owl:Class ; PMID:9144563, PMID:9256072, PMID:9686347 ; - oboInOwl:hasDbXref UMLS:C1412516 ; oboInOwl:hasExactSynonym "ARG2", "arginase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:384 ; - skos:exactMatch HGNC_symbol:ARG2 ; + skos:exactMatch UMLS:C1412516, + HGNC:664, + HGNC_symbol:ARG2 ; biolink:category biolink:Gene . OMIM:107840 a owl:Class ; @@ -6487,13 +6630,13 @@ OMIM:107840 a owl:Class ; OMIM:107850 a owl:Class ; rdfs:label "arm folding preference" ; IAO:0000142 PMID:4461659 ; - oboInOwl:hasDbXref UMLS:C1862535 ; - oboInOwl:hasExactSynonym "arm folding preference" . + oboInOwl:hasExactSynonym "arm folding preference" ; + skos:exactMatch UMLS:C1862535 . OMIM:107900 a owl:Class ; rdfs:label "arms, malformation of" ; - oboInOwl:hasDbXref UMLS:C1862534 ; - oboInOwl:hasExactSynonym "arms, malformation of" . + oboInOwl:hasExactSynonym "arms, malformation of" ; + skos:exactMatch UMLS:C1862534 . OMIM:107920 a owl:Class ; IAO:0100001 OMIM:154200 ; @@ -6520,14 +6663,15 @@ OMIM:107930 a owl:Class ; PMID:9887369 ; RO:0002525 CHR:9606chr7p12.2-p12.1 ; RO:0003303 OMIM:608643 ; - oboInOwl:hasDbXref UMLS:C1291564, - UMLS:C1413943 ; oboInOwl:hasExactSynonym "DDC", "aromatic l-amino acid decarboxylase", "dopa decarboxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1644 ; - skos:exactMatch HGNC_symbol:DDC ; + skos:exactMatch UMLS:C1291564, + UMLS:C1413943, + HGNC:2719, + HGNC_symbol:DDC ; biolink:category biolink:Gene . OMIM:107940 a owl:Class ; @@ -6546,13 +6690,14 @@ OMIM:107940 a owl:Class ; PMID:7896272, PMID:9400383, PMID:9924018 ; - oboInOwl:hasDbXref UMLS:C1332117 ; oboInOwl:hasExactSynonym "ARRB1", "arrestin, beta, 1", "beta-arrestin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:408 ; - skos:exactMatch HGNC_symbol:ARRB1 ; + skos:exactMatch UMLS:C1332117, + HGNC:711, + HGNC_symbol:ARRB1 ; biolink:category biolink:Gene . OMIM:107941 a owl:Class ; @@ -6575,14 +6720,15 @@ OMIM:107941 a owl:Class ; PMID:19122674, PMID:21183077, PMID:7695743 ; - oboInOwl:hasDbXref UMLS:C1412552 ; oboInOwl:hasExactSynonym "ARRB2", "arrestin, beta, 2", "barr2", "beta-arrestin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:409 ; - skos:exactMatch HGNC_symbol:ARRB2 ; + skos:exactMatch UMLS:C1412552, + HGNC:712, + HGNC_symbol:ARRB2 ; biolink:category biolink:Gene . OMIM:107950 a owl:Class ; @@ -6616,24 +6762,24 @@ OMIM:107970 a owl:Class ; PMID:8815941, PMID:8824801, PMID:9466574 ; - oboInOwl:hasDbXref UMLS:C1862511, - ORPHA:217656, - ORPHA:293888, - ORPHA:293899, - ORPHA:293910, - ORPHA:3403 ; oboInOwl:hasExactSynonym "ARVD1", "arrhythmogenic right ventricular cardiomyopathy 1", "arrhythmogenic right ventricular dysplasia, familial, 1", "cardiomyopathy, right ventricular dilated", "uhl anomaly" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1862511, + ORPHA:217656, + ORPHA:293888, + ORPHA:293899, + ORPHA:293910, + ORPHA:3403 ; biolink:category biolink:Disease . OMIM:108000 a owl:Class ; rdfs:label "arteries, anomalies of" ; - oboInOwl:hasDbXref UMLS:C1876179 ; - oboInOwl:hasExactSynonym "arteries, anomalies of" . + oboInOwl:hasExactSynonym "arteries, anomalies of" ; + skos:exactMatch UMLS:C1876179 . OMIM:108010 a owl:Class ; rdfs:label "arteriovenous malformations of the brain" ; @@ -6646,25 +6792,25 @@ OMIM:108010 a owl:Class ; PMID:3973731, PMID:475353, PMID:7193302 ; - oboInOwl:hasDbXref UMLS:C0917804, - ORPHA:46724 ; oboInOwl:hasExactSynonym "arteriovenous malformations of the brain", "bavm", "cerebral arteriovenous malformations", "intracranial hemorrhage 1n brain arteriovenous malformations, susceptibility to" ; + skos:exactMatch UMLS:C0917804, + ORPHA:46724 ; biolink:category biolink:Disease . OMIM:108050 a owl:Class ; rdfs:label "arteritis, familial granulomatous, with juvenile polyarthritis" ; IAO:0000142 PMID:7053492, PMID:7306244 ; - oboInOwl:hasDbXref UMLS:C1862510 ; - oboInOwl:hasExactSynonym "arteritis, familial granulomatous, with juvenile polyarthritis" . + oboInOwl:hasExactSynonym "arteritis, familial granulomatous, with juvenile polyarthritis" ; + skos:exactMatch UMLS:C1862510 . OMIM:108100 a owl:Class ; rdfs:label "arthritis, sacroiliac" ; - oboInOwl:hasDbXref UMLS:C0748473 ; - oboInOwl:hasExactSynonym "arthritis, sacroiliac" . + oboInOwl:hasExactSynonym "arthritis, sacroiliac" ; + skos:exactMatch UMLS:C0748473 . OMIM:108110 a owl:Class ; IAO:0100001 OMIM:108120 ; @@ -6697,13 +6843,13 @@ OMIM:108145 a owl:Class ; PMID:8533802, PMID:8923935, PMID:8923937 ; - oboInOwl:hasDbXref UMLS:C1862472 ; oboInOwl:hasExactSynonym "DA5", "arthrogryposis with oculomotor limitation and electroretinal abnormalities", "arthrogryposis, distal, iia 2b", "arthrogryposis, distal, iia 5", "oculomelic amyoplasia" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C1862472 ; biolink:category biolink:Disease . OMIM:108200 a owl:Class ; @@ -6711,11 +6857,11 @@ OMIM:108200 a owl:Class ; IAO:0000142 PMID:19571066, PMID:5539065, PMID:8923935 ; - oboInOwl:hasDbXref UMLS:C1862471 ; oboInOwl:hasExactSynonym "DA6", "arthrogryposis and sensorineural deafness", "arthrogryposis, distal, iia 6" ; - rdfs:subClassOf OMIMPS:108120 . + rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C1862471 . OMIM:108300 a owl:Class ; rdfs:label "stickler syndrome, iia 1" ; @@ -6763,21 +6909,21 @@ OMIM:108300 a owl:Class ; PMID:8737653, PMID:9529347, PMID:9805127 ; - oboInOwl:hasDbXref UMLS:C2020284 ; oboInOwl:hasExactSynonym "STL1", "arthroophthalmopathy, hereditary progressive", "stickler syndrome, iia 1", "stickler syndrome, membranous vitreous iia", "stickler syndrome, vitreous iia 1" ; rdfs:subClassOf OMIMPS:108300 ; + skos:exactMatch UMLS:C2020284 ; biolink:category biolink:Disease . OMIM:108320 a owl:Class ; rdfs:label "artichoke, modification of taste by" ; IAO:0000142 PMID:17802327, PMID:5084667 ; - oboInOwl:hasDbXref UMLS:C1862464 ; - oboInOwl:hasExactSynonym "artichoke, modification of taste by" . + oboInOwl:hasExactSynonym "artichoke, modification of taste by" ; + skos:exactMatch UMLS:C1862464 . OMIM:108330 a owl:Class ; rdfs:label "CYP1A1" ; @@ -6811,7 +6957,6 @@ OMIM:108330 a owl:Class ; PMID:8877059, PMID:9067549, PMID:9353182 ; - oboInOwl:hasDbXref UMLS:C0919425 ; oboInOwl:hasExactSynonym "CYP1A1", "aryl hydrocarbon hydroxylase", "cytochrome p1-450, dioxin-inducible", @@ -6823,7 +6968,9 @@ OMIM:108330 a owl:Class ; "tcdd-inducible cytochrome p1-450" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1543 ; - skos:exactMatch HGNC_symbol:CYP1A1 ; + skos:exactMatch UMLS:C0919425, + HGNC:2595, + HGNC_symbol:CYP1A1 ; biolink:category biolink:Gene . OMIM:108340 a owl:Class ; @@ -6840,9 +6987,9 @@ OMIM:108340 a owl:Class ; PMID:711851, PMID:76021, PMID:876325 ; - oboInOwl:hasDbXref UMLS:C1862463 ; oboInOwl:hasExactSynonym "ahh inducibility", "aryl hydrocarbon hydroxylase inducibility" ; + skos:exactMatch UMLS:C1862463 ; biolink:category biolink:Disease . OMIM:108345 a owl:Class ; @@ -6867,7 +7014,6 @@ OMIM:108345 a owl:Class ; PMID:9511183, PMID:9731715, PMID:9834266 ; - oboInOwl:hasDbXref UMLS:C1417602 ; oboInOwl:hasExactSynonym "NAT1", "acetyl-coa:arylamine n-acetyltransferase", "arylamide acetylase 1", @@ -6875,7 +7021,9 @@ OMIM:108345 a owl:Class ; "n-acetyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9 ; - skos:exactMatch HGNC_symbol:NAT1 ; + skos:exactMatch UMLS:C1417602, + HGNC:7645, + HGNC_symbol:NAT1 ; biolink:category biolink:Gene . OMIM:108360 a owl:Class ; @@ -6885,26 +7033,28 @@ OMIM:108360 a owl:Class ; PMID:18488037, PMID:2982798, PMID:3234178 ; - oboInOwl:hasDbXref UMLS:C1412578 ; oboInOwl:hasExactSynonym "ASGR1", "asialoglycoprotein receptor 1", "c-type lectin domain family 4, member h1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:432 ; - skos:exactMatch HGNC_symbol:ASGR1 ; + skos:exactMatch UMLS:C1412578, + HGNC:742, + HGNC_symbol:ASGR1 ; biolink:category biolink:Gene . OMIM:108361 a owl:Class ; rdfs:label "ASGR2" ; IAO:0000142 PMID:18488037, PMID:3863106 ; - oboInOwl:hasDbXref UMLS:C1412579 ; oboInOwl:hasExactSynonym "ASGR2", "asialoglycoprotein receptor 2", "c-type lectin domain family 4, member h2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:433 ; - skos:exactMatch HGNC_symbol:ASGR2 ; + skos:exactMatch UMLS:C1412579, + HGNC:743, + HGNC_symbol:ASGR2 ; biolink:category biolink:Gene . OMIM:108370 a owl:Class ; @@ -6922,14 +7072,15 @@ OMIM:108370 a owl:Class ; PMID:7904551 ; RO:0002525 CHR:9606chr7q21.3 ; RO:0003303 OMIM:615574 ; - oboInOwl:hasDbXref UMLS:C1412588, - UMLS:C3809971 ; oboInOwl:hasExactSynonym "ASNS", "asparagine synthetase", "human complement for hamster temperature-sensitive mutant ts11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440 ; - skos:exactMatch HGNC_symbol:ASNS ; + skos:exactMatch UMLS:C1412588, + UMLS:C3809971, + HGNC:753, + HGNC_symbol:ASNS ; biolink:category biolink:Gene . OMIM:108390 a owl:Class ; @@ -6939,8 +7090,8 @@ OMIM:108390 a owl:Class ; PMID:27965198, PMID:3569485, PMID:7448566 ; - oboInOwl:hasDbXref UMLS:C1862460 ; oboInOwl:hasExactSynonym "asparagus, specific smell hypersensitivity" ; + skos:exactMatch UMLS:C1862460 ; biolink:category biolink:Disease . OMIM:108400 a owl:Class ; @@ -6955,22 +7106,23 @@ OMIM:108410 a owl:Class ; PMID:9421509 ; RO:0002525 CHR:9606chr18q21.31 ; RO:0003303 OMIM:619092 ; - oboInOwl:hasDbXref UMLS:C1384524, - UMLS:C5436783, - UMLS:C5436788 ; oboInOwl:hasExactSynonym "NARS1", "asnrs", "asparaginyl-trna synthetase 1", "nars" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4677 ; - skos:exactMatch HGNC_symbol:NARS1 ; + skos:exactMatch UMLS:C1384524, + UMLS:C5436783, + UMLS:C5436788, + HGNC:7643, + HGNC_symbol:NARS1 ; biolink:category biolink:Gene . OMIM:108450 a owl:Class ; rdfs:label "asymmetric short stature syndrome" ; - oboInOwl:hasDbXref UMLS:C1862458 ; - oboInOwl:hasExactSynonym "asymmetric short stature syndrome" . + oboInOwl:hasExactSynonym "asymmetric short stature syndrome" ; + skos:exactMatch UMLS:C1862458 . OMIM:108500 a owl:Class ; rdfs:label "episodic ataxia, iia 2" ; @@ -7000,7 +7152,6 @@ OMIM:108500 a owl:Class ; PMID:8898206, PMID:9302278, PMID:9390841 ; - oboInOwl:hasDbXref UMLS:C1720416 ; oboInOwl:hasExactSynonym "EA2", "acetazolamide-responsive hereditary paroxysmal cerebellar ataxia", "ataxia, episodic, with nystagmus", @@ -7010,25 +7161,26 @@ OMIM:108500 a owl:Class ; "episodic ataxia, iia 2", "episodic ataxia, nystagmus-associated" ; rdfs:subClassOf OMIMPS:160120 ; + skos:exactMatch UMLS:C1720416 ; biolink:category biolink:Disease . OMIM:108650 a owl:Class ; rdfs:label "spastic ataxia 7, autosomal dominant" ; IAO:0000142 PMID:17584505, PMID:6821680 ; - oboInOwl:hasDbXref UMLS:C1862441 ; oboInOwl:hasExactSynonym "SPAX7", "miosis, congenital, with spastic ataxia", "spastic ataxia 7, autosomal dominant", "spastic ataxia with congenital miosis" ; rdfs:subClassOf OMIMPS:108600 ; + skos:exactMatch UMLS:C1862441 ; biolink:category biolink:Disease . OMIM:108700 a owl:Class ; rdfs:label "ataxia with fasciculations" ; IAO:0000142 PMID:14115580 ; - oboInOwl:hasDbXref UMLS:C1862440 ; - oboInOwl:hasExactSynonym "ataxia with fasciculations" . + oboInOwl:hasExactSynonym "ataxia with fasciculations" ; + skos:exactMatch UMLS:C1862440 . OMIM:108720 a owl:Class ; rdfs:label "atelosteogenesis, iia 1" ; @@ -7045,14 +7197,14 @@ OMIM:108720 a owl:Class ; PMID:7163263, PMID:7194471, PMID:8291529 ; - oboInOwl:hasDbXref UMLS:C0265283, - ORPHA:1190 ; oboInOwl:hasExactSynonym "AO1", "aoi", "atelosteogenesis, iia 1", "giant cell chondrodysplasia", "spondylohumerofemoral hypoplasia" ; rdfs:subClassOf OMIMPS:108720 ; + skos:exactMatch UMLS:C0265283, + ORPHA:1190 ; biolink:category biolink:Disease . OMIM:108721 a owl:Class ; @@ -7060,12 +7212,12 @@ OMIM:108721 a owl:Class ; IAO:0000142 PMID:10076882, PMID:14991055, PMID:2368807 ; - oboInOwl:hasDbXref UMLS:C3668942, - ORPHA:56305 ; oboInOwl:hasExactSynonym "AO3", "aoiii", "atelosteogenesis, iia 3" ; rdfs:subClassOf OMIMPS:108720 ; + skos:exactMatch UMLS:C3668942, + ORPHA:56305 ; biolink:category biolink:Disease . OMIM:108728 a owl:Class ; @@ -7080,7 +7232,6 @@ OMIM:108728 a owl:Class ; PMID:32214246, PMID:6546379, PMID:8088842 ; - oboInOwl:hasDbXref UMLS:C1412125 ; oboInOwl:hasExactSynonym "ACLY", "acl", "atp citrate lyase", @@ -7088,7 +7239,9 @@ OMIM:108728 a owl:Class ; "clatp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:47 ; - skos:exactMatch HGNC_symbol:ACLY ; + skos:exactMatch UMLS:C1412125, + HGNC:115, + HGNC_symbol:ACLY ; biolink:category biolink:Gene . OMIM:108729 a owl:Class ; @@ -7099,7 +7252,6 @@ OMIM:108729 a owl:Class ; PMID:8168843, PMID:8227057, PMID:9657145 ; - oboInOwl:hasDbXref UMLS:C1412656 ; oboInOwl:hasExactSynonym "ATP5F1C", "atp synthase f1, subunit gamma", "atp synthase, h+ transporting, mitochondrial f1 complex, gamma subunit 1", @@ -7108,7 +7260,9 @@ OMIM:108729 a owl:Class ; "mitochondrial atp synthase, gamma subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:509 ; - skos:exactMatch HGNC_symbol:ATP5F1C ; + skos:exactMatch UMLS:C1412656, + HGNC:833, + HGNC_symbol:ATP5F1C ; biolink:category biolink:Gene . OMIM:108730 a owl:Class ; @@ -7135,14 +7289,15 @@ OMIM:108730 a owl:Class ; PMID:9367679 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:601003 ; - oboInOwl:hasDbXref UMLS:C1412637 ; oboInOwl:hasExactSynonym "ATP2A1", "atpase, ca(2+)-transporting, fast-twitch 1", "sarcoplasmic reticulum ca(2+)-atpase 1", "serca1 truncated isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:487 ; - skos:exactMatch HGNC_symbol:ATP2A1 ; + skos:exactMatch UMLS:C1412637, + HGNC:811, + HGNC_symbol:ATP2A1 ; biolink:category biolink:Gene . OMIM:108731 a owl:Class ; @@ -7154,13 +7309,14 @@ OMIM:108731 a owl:Class ; PMID:2844759, PMID:8386431, PMID:8396145 ; - oboInOwl:hasDbXref UMLS:C1412640 ; oboInOwl:hasExactSynonym "ATP2B1", "atpase, ca(2+)-transporting, plasma membrane, 1", "plasma membrane ca(2+)-atpase, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:490 ; - skos:exactMatch HGNC_symbol:ATP2B1 ; + skos:exactMatch UMLS:C1412640, + HGNC:814, + HGNC_symbol:ATP2B1 ; biolink:category biolink:Gene . OMIM:108732 a owl:Class ; @@ -7169,14 +7325,15 @@ OMIM:108732 a owl:Class ; PMID:15178683, PMID:1531651, PMID:1674727 ; - oboInOwl:hasDbXref UMLS:C1412643 ; oboInOwl:hasExactSynonym "ATP2B4", "atp2b2, formerly", "atpase, ca(2+)-transporting, plasma membrane, 4", "plasma membrane ca(2+)-atpase, iia 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:493 ; - skos:exactMatch HGNC_symbol:ATP2B4 ; + skos:exactMatch UMLS:C1412643, + HGNC:817, + HGNC_symbol:ATP2B4 ; biolink:category biolink:Gene . OMIM:108733 a owl:Class ; @@ -7197,13 +7354,14 @@ OMIM:108733 a owl:Class ; PMID:9697703 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:601386 ; - oboInOwl:hasDbXref UMLS:C1412641 ; oboInOwl:hasExactSynonym "ATP2B2", "atpase, ca(2+)-transporting, plasma membrane, 2", "plasma membrane ca(2+)-atpase, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:491 ; - skos:exactMatch HGNC_symbol:ATP2B2 ; + skos:exactMatch UMLS:C1412641, + HGNC:815, + HGNC_symbol:ATP2B2 ; biolink:category biolink:Gene . OMIM:108740 a owl:Class ; @@ -7239,14 +7397,15 @@ OMIM:108740 a owl:Class ; PMID:8886011 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:124200 ; - oboInOwl:hasDbXref UMLS:C1412638 ; oboInOwl:hasExactSynonym "ATP2A2", "atp2b", "atpase, ca(2+)-transporting, slow-twitch", "sarcoplasmic reticulum ca(2+)-atpase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:488 ; - skos:exactMatch HGNC_symbol:ATP2A2 ; + skos:exactMatch UMLS:C1412638, + HGNC:812, + HGNC_symbol:ATP2A2 ; biolink:category biolink:Gene . OMIM:108745 a owl:Class ; @@ -7254,14 +7413,15 @@ OMIM:108745 a owl:Class ; IAO:0000142 PMID:12438748, PMID:14752118, PMID:1709739 ; - oboInOwl:hasDbXref UMLS:C1412675 ; oboInOwl:hasExactSynonym "ATP6V0C", "atpase, h+ transporting, lysosomal", "atpase, h+ transporting, lysosomal, 16-kd, v0 subunit c", "vacuolar proton pump, subunit c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:527 ; - skos:exactMatch HGNC_symbol:ATP6V0C ; + skos:exactMatch UMLS:C1412675, + HGNC:855, + HGNC_symbol:ATP6V0C ; biolink:category biolink:Gene . OMIM:108746 a owl:Class ; @@ -7275,8 +7435,6 @@ OMIM:108746 a owl:Class ; PMID:9405660 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:617402 ; - oboInOwl:hasDbXref UMLS:C1412677, - UMLS:C4479387 ; oboInOwl:hasExactSynonym "ATP6V1E1", "atp6e2", "atp6v1e", @@ -7285,15 +7443,18 @@ OMIM:108746 a owl:Class ; "vacuolar proton pump, 31-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:529 ; - skos:exactMatch HGNC_symbol:ATP6V1E1 ; + skos:exactMatch UMLS:C1412677, + UMLS:C4479387, + HGNC:857, + HGNC_symbol:ATP6V1E1 ; biolink:category biolink:Gene . OMIM:108760 a owl:Class ; rdfs:label "atresia of external auditory canal and conductive deafness" ; IAO:0000142 PMID:495656, PMID:5405360 ; - oboInOwl:hasDbXref UMLS:C3276095 ; oboInOwl:hasExactSynonym "atresia of external auditory canal and conductive deafness" ; + skos:exactMatch UMLS:C3276095 ; biolink:category biolink:Disease . OMIM:108780 a owl:Class ; @@ -7324,7 +7485,6 @@ OMIM:108780 a owl:Class ; PMID:7839143 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:615745 ; - oboInOwl:hasDbXref UMLS:C1417807 ; oboInOwl:hasExactSynonym "NPPA", "atrial natriuretic factor", "atrial natriuretic polypeptides", @@ -7335,7 +7495,9 @@ OMIM:108780 a owl:Class ; "pronatriodilatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4878 ; - skos:exactMatch HGNC_symbol:NPPA ; + skos:exactMatch UMLS:C1417807, + HGNC:7939, + HGNC_symbol:NPPA ; biolink:category biolink:Gene . OMIM:108900 a owl:Class ; @@ -7351,11 +7513,11 @@ OMIM:108900 a owl:Class ; PMID:6018322, PMID:7867169, PMID:9651244 ; - oboInOwl:hasDbXref UMLS:C3276096 ; oboInOwl:hasExactSynonym "ASD7", "asd with or without atrioventricular conduction defects", "atrial septal defect 7 with or without atrioventricular conduction defects" ; rdfs:subClassOf OMIMPS:108800 ; + skos:exactMatch UMLS:C3276096 ; biolink:category biolink:Disease . OMIM:108950 a owl:Class ; @@ -7363,8 +7525,8 @@ OMIM:108950 a owl:Class ; IAO:0000142 PMID:14098892, PMID:14926053, PMID:836114 ; - oboInOwl:hasDbXref UMLS:C1862387 ; - oboInOwl:hasExactSynonym "atrial tachyarrhythmia with short pr interval" . + oboInOwl:hasExactSynonym "atrial tachyarrhythmia with short pr interval" ; + skos:exactMatch UMLS:C1862387 . OMIM:108960 a owl:Class ; rdfs:label "NPR1" ; @@ -7376,7 +7538,6 @@ OMIM:108960 a owl:Class ; PMID:7982997, PMID:9405681, PMID:9482923 ; - oboInOwl:hasDbXref UMLS:C1417810 ; oboInOwl:hasExactSynonym "NPR1", "atrial natriuretic peptide receptor, iia a", "atrionatriuretic peptide receptor, iia a", @@ -7384,7 +7545,9 @@ OMIM:108960 a owl:Class ; "natriuretic peptide receptor a/guanylate cyclase a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4881 ; - skos:exactMatch HGNC_symbol:NPR1 ; + skos:exactMatch UMLS:C1417810, + HGNC:7943, + HGNC_symbol:NPR1 ; biolink:category biolink:Gene . OMIM:108961 a owl:Class ; @@ -7412,7 +7575,6 @@ OMIM:108961 a owl:Class ; PMID:7680013 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:616255 ; - oboInOwl:hasDbXref UMLS:C1334895 ; oboInOwl:hasExactSynonym "NPR2", "anpb receptor", "atrial natriuretic peptide receptor, iia B", @@ -7422,7 +7584,9 @@ OMIM:108961 a owl:Class ; "natriuretic peptide receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4882 ; - skos:exactMatch HGNC_symbol:NPR2 ; + skos:exactMatch UMLS:C1334895, + HGNC:7944, + HGNC_symbol:NPR2 ; biolink:category biolink:Gene . OMIM:108962 a owl:Class ; @@ -7436,14 +7600,15 @@ OMIM:108962 a owl:Class ; PMID:9482886 ; RO:0002525 CHR:9606chr5p13.3 ; RO:0003303 OMIM:619543 ; - oboInOwl:hasDbXref UMLS:C1417811 ; oboInOwl:hasExactSynonym "NPR3", "atrial natriuretic peptide clearance receptor", "atrionatriuretic peptide receptor, iia c", "natriuretic peptide receptor c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4883 ; - skos:exactMatch HGNC_symbol:NPR3 ; + skos:exactMatch UMLS:C1417811, + HGNC:7945, + HGNC_symbol:NPR3 ; biolink:category biolink:Gene . OMIM:108970 a owl:Class ; @@ -7460,31 +7625,31 @@ OMIM:108980 a owl:Class ; PMID:7188949, PMID:7201363, PMID:7449186 ; - oboInOwl:hasDbXref UMLS:C3152251 ; oboInOwl:hasExactSynonym "atrioventricular conduction time, variation 1n", "pr interval, variation 1n" ; + skos:exactMatch UMLS:C3152251 ; biolink:category biolink:Disease . OMIM:108990 a owl:Class ; rdfs:label "attached cell antigen 28.3.7" ; IAO:0000142 PMID:6641710 ; - oboInOwl:hasDbXref UMLS:C1417160 ; oboInOwl:hasExactSynonym "MIC7", - "attached cell antigen 28.3.7" . + "attached cell antigen 28.3.7" ; + skos:exactMatch UMLS:C1417160 . OMIM:109000 a owl:Class ; rdfs:label "auriculoosteodysplasia" ; IAO:0000142 PMID:6065451 ; - oboInOwl:hasDbXref UMLS:C1862381 ; oboInOwl:hasExactSynonym "auriculoosteodysplasia" ; + skos:exactMatch UMLS:C1862381 ; biolink:category biolink:Disease . OMIM:109050 a owl:Class ; rdfs:label "aurocephalosyndactyly" ; IAO:0000142 PMID:2845086 ; - oboInOwl:hasDbXref UMLS:C1862380 ; oboInOwl:hasExactSynonym "auralcephalosyndactyly", - "aurocephalosyndactyly" . + "aurocephalosyndactyly" ; + skos:exactMatch UMLS:C1862380 . OMIM:109090 a owl:Class ; rdfs:label "SSB" ; @@ -7494,7 +7659,6 @@ OMIM:109090 a owl:Class ; PMID:3192525, PMID:9154801, PMID:9173875 ; - oboInOwl:hasDbXref UMLS:C1420423 ; oboInOwl:hasExactSynonym "SSB", "autoantigen la", "la ribonucleoprotein domain family, member 3", @@ -7502,7 +7666,9 @@ OMIM:109090 a owl:Class ; "small rna-binding exonuclease protection factor la" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6741 ; - skos:exactMatch HGNC_symbol:SSB ; + skos:exactMatch UMLS:C1420423, + HGNC:11316, + HGNC_symbol:SSB ; biolink:category biolink:Gene . OMIM:109091 a owl:Class ; @@ -7524,7 +7690,6 @@ OMIM:109091 a owl:Class ; PMID:9337407 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:187950 ; - oboInOwl:hasDbXref UMLS:C1413096 ; oboInOwl:hasExactSynonym "CALR", "autoantigen ro", "calreticulin", @@ -7532,7 +7697,9 @@ OMIM:109091 a owl:Class ; "crt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:811 ; - skos:exactMatch HGNC_symbol:CALR ; + skos:exactMatch UMLS:C1413096, + HGNC:1455, + HGNC_symbol:CALR ; biolink:category biolink:Gene . OMIM:109092 a owl:Class ; @@ -7543,7 +7710,6 @@ OMIM:109092 a owl:Class ; PMID:32051585, PMID:8094596, PMID:8213678 ; - oboInOwl:hasDbXref UMLS:C1540056 ; oboInOwl:hasExactSynonym "TRIM21", "autoantigen ro/ssa, 52-kd", "sicca syndrome antigen a", @@ -7551,7 +7717,9 @@ OMIM:109092 a owl:Class ; "tripartite motif-containing protein 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6737 ; - skos:exactMatch HGNC_symbol:TRIM21 ; + skos:exactMatch UMLS:C1540056, + HGNC:11312, + HGNC_symbol:TRIM21 ; biolink:category biolink:Gene . OMIM:109100 a owl:Class ; @@ -7574,23 +7742,23 @@ OMIM:109100 a owl:Class ; PMID:7195175, PMID:7914412, PMID:9707586 ; - oboInOwl:hasDbXref UMLS:C0004364 ; oboInOwl:hasExactSynonym "autoimmune disease" ; + skos:exactMatch UMLS:C0004364 ; biolink:category biolink:Disease . OMIM:109110 a owl:Class ; rdfs:label "autonomously replicating sequence 1" ; IAO:0000142 PMID:6320114 ; - oboInOwl:hasDbXref UMLS:C1862379 ; oboInOwl:hasExactSynonym "ars1", - "autonomously replicating sequence 1" . + "autonomously replicating sequence 1" ; + skos:exactMatch UMLS:C1862379 . OMIM:109130 a owl:Class ; rdfs:label "axial osteomalacia" ; IAO:0000142 PMID:13894454, PMID:7315848 ; - oboInOwl:hasDbXref UMLS:C1862372 ; - oboInOwl:hasExactSynonym "axial osteomalacia" . + oboInOwl:hasExactSynonym "axial osteomalacia" ; + skos:exactMatch UMLS:C1862372 . OMIM:109135 a owl:Class ; rdfs:label "AXL" ; @@ -7607,22 +7775,23 @@ OMIM:109135 a owl:Class ; PMID:3279421, PMID:7854420, PMID:8336730 ; - oboInOwl:hasDbXref UMLS:C0812237 ; oboInOwl:hasExactSynonym "AXL", "axl receptor tyrosine kinase", "axl transforming gene", "oncogene axl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:558 ; - skos:exactMatch HGNC_symbol:AXL ; + skos:exactMatch UMLS:C0812237, + HGNC:905, + HGNC_symbol:AXL ; biolink:category biolink:Gene . OMIM:109160 a owl:Class ; rdfs:label "azotemia, familial" ; IAO:0000142 PMID:619239, PMID:956389 ; - oboInOwl:hasDbXref UMLS:C1862358 ; oboInOwl:hasExactSynonym "azotemia, familial" ; + skos:exactMatch UMLS:C1862358 ; biolink:category biolink:Disease . OMIM:109195 a owl:Class ; @@ -7631,12 +7800,13 @@ OMIM:109195 a owl:Class ; PMID:2722846, PMID:8432532, PMID:9240454 ; - oboInOwl:hasDbXref UMLS:C1443145 ; oboInOwl:hasExactSynonym "BPI", "bactericidal permeability-increasing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:671 ; - skos:exactMatch HGNC_symbol:BPI ; + skos:exactMatch UMLS:C1443145, + HGNC:1095, + HGNC_symbol:BPI ; biolink:category biolink:Gene . OMIM:109270 a owl:Class ; @@ -7730,7 +7900,16 @@ OMIM:109270 a owl:Class ; PMID:9973643 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1420193, + oboInOwl:hasExactSynonym "SLC4A1", + "acanthocytosis, one form of", + "anion exchange protein 1", + "band 3 of red cell membrane", + "erythrocyte membrane protein band 3", + "erythroid protein band 3", + "solute carrier family 4 (anion exchanger), member 1" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:6521 ; + skos:exactMatch UMLS:C1420193, UMLS:C1704380, UMLS:C1832168, UMLS:C1862190, @@ -7758,17 +7937,9 @@ OMIM:109270 a owl:Class ; UMLS:C4225644, UMLS:C4225645, UMLS:C4225646, - UMLS:C5436235 ; - oboInOwl:hasExactSynonym "SLC4A1", - "acanthocytosis, one form of", - "anion exchange protein 1", - "band 3 of red cell membrane", - "erythrocyte membrane protein band 3", - "erythroid protein band 3", - "solute carrier family 4 (anion exchanger), member 1" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:6521 ; - skos:exactMatch HGNC_symbol:SLC4A1 ; + UMLS:C5436235, + HGNC:11027, + HGNC_symbol:SLC4A1 ; biolink:category biolink:Gene . OMIM:109280 a owl:Class ; @@ -7782,7 +7953,6 @@ OMIM:109280 a owl:Class ; PMID:8098982, PMID:8434259, PMID:9027488 ; - oboInOwl:hasDbXref UMLS:C1420194 ; oboInOwl:hasExactSynonym "SLC4A2", "anion exchanger, nonerythroid", "band 3-like protein", @@ -7792,13 +7962,15 @@ OMIM:109280 a owl:Class ; "solute carrier family 4 (anion exchanger), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6522 ; - skos:exactMatch HGNC_symbol:SLC4A2 ; + skos:exactMatch UMLS:C1420194, + HGNC:11028, + HGNC_symbol:SLC4A2 ; biolink:category biolink:Gene . OMIM:109300 a owl:Class ; rdfs:label "banki syndrome" ; - oboInOwl:hasDbXref UMLS:C1862319 ; - oboInOwl:hasExactSynonym "banki syndrome" . + oboInOwl:hasExactSynonym "banki syndrome" ; + skos:exactMatch UMLS:C1862319 . OMIM:109390 a owl:Class ; IAO:0100001 OMIM:301845 ; @@ -7880,14 +8052,14 @@ OMIM:109400 a owl:Class ; PMID:9486718, PMID:958664, PMID:9931336 ; - oboInOwl:hasDbXref UMLS:C0004779, - ORPHA:377 ; oboInOwl:hasExactSynonym "BCNS", "basal cell nevus syndrome", "gorlin syndrome", "gorlin-goltz syndrome", "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies", "nevoid basal cell carcinoma syndrome" ; + skos:exactMatch UMLS:C0004779, + ORPHA:377 ; biolink:category biolink:Disease . OMIM:109480 a owl:Class ; @@ -7916,7 +8088,6 @@ OMIM:109480 a owl:Class ; PMID:9767135 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:111380 ; - oboInOwl:hasDbXref UMLS:C1412828 ; oboInOwl:hasExactSynonym "BSG", "basigin", "cd147 antigen", @@ -7925,7 +8096,9 @@ OMIM:109480 a owl:Class ; "tcsf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:682 ; - skos:exactMatch HGNC_symbol:BSG ; + skos:exactMatch UMLS:C1412828, + HGNC:1116, + HGNC_symbol:BSG ; biolink:category biolink:Gene . OMIM:109500 a owl:Class ; @@ -7937,8 +8110,8 @@ OMIM:109500 a owl:Class ; PMID:4673454, PMID:4976731, PMID:5300716 ; - oboInOwl:hasDbXref UMLS:C1862299 ; oboInOwl:hasExactSynonym "basilar impression, primary" ; + skos:exactMatch UMLS:C1862299 ; biolink:category biolink:Disease . OMIM:109530 a owl:Class ; @@ -7947,14 +8120,15 @@ OMIM:109530 a owl:Class ; PMID:1301170, PMID:6291768, PMID:9841922 ; - oboInOwl:hasDbXref UMLS:C1413226 ; oboInOwl:hasExactSynonym "CD48", "b-cell activation marker", "cd48 antigen", "slam family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:962 ; - skos:exactMatch HGNC_symbol:CD48 ; + skos:exactMatch UMLS:C1413226, + HGNC:1683, + HGNC_symbol:CD48 ; biolink:category biolink:Gene . OMIM:109535 a owl:Class ; @@ -7987,24 +8161,25 @@ OMIM:109535 a owl:Class ; PMID:9671306 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:606843 ; - oboInOwl:hasDbXref UMLS:C1539081 ; oboInOwl:hasExactSynonym "B cell-associated molecule cd40", "CD40", "cd40 antigen", "tumor necrosis factor receptor superfamily, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:958 ; - skos:exactMatch HGNC_symbol:CD40 ; + skos:exactMatch UMLS:C1539081, + HGNC:11919, + HGNC_symbol:CD40 ; biolink:category biolink:Gene . OMIM:109540 a owl:Class ; rdfs:label "b-cell growth factor" ; IAO:0000142 PMID:3547651, PMID:6083564 ; - oboInOwl:hasDbXref UMLS:C1862295 ; oboInOwl:hasExactSynonym "BCGF", "b-cell growth factor", - "b-cell growth factor 1" . + "b-cell growth factor 1" ; + skos:exactMatch UMLS:C1862295 . OMIM:109545 a owl:Class ; rdfs:label "TNFRSF17" ; @@ -8013,13 +8188,14 @@ OMIM:109545 a owl:Class ; PMID:1396583, PMID:19029902, PMID:8527407 ; - oboInOwl:hasDbXref UMLS:C1420809 ; oboInOwl:hasExactSynonym "TNFRSF17", "b-cell maturation factor", "tumor necrosis factor receptor superfamily, member 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:608 ; - skos:exactMatch HGNC_symbol:TNFRSF17 ; + skos:exactMatch UMLS:C1420809, + HGNC:11913, + HGNC_symbol:TNFRSF17 ; biolink:category biolink:Gene . OMIM:109560 a owl:Class ; @@ -8035,13 +8211,14 @@ OMIM:109560 a owl:Class ; PMID:3122218 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C0812238 ; oboInOwl:hasExactSynonym "BCL3", "b-cell leukemia/lymphoma 3", "bcl4, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:602 ; - skos:exactMatch HGNC_symbol:BCL3 ; + skos:exactMatch UMLS:C0812238, + HGNC:998, + HGNC_symbol:BCL3 ; biolink:category biolink:Gene . OMIM:109565 a owl:Class ; @@ -8087,11 +8264,6 @@ OMIM:109565 a owl:Class ; PMID:9746767, PMID:9824205, PMID:9824206 ; - oboInOwl:hasDbXref UMLS:C1332399, - UMLS:C1862293, - UMLS:C1862294, - UMLS:C1864273, - UMLS:C1864437 ; oboInOwl:hasExactSynonym "BCL6", "b-cell lymphoma 6", "bcl6 transcription repressor", @@ -8103,7 +8275,13 @@ OMIM:109565 a owl:Class ; "zinc finger protein 51" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:604 ; - skos:exactMatch HGNC_symbol:BCL6 ; + skos:exactMatch UMLS:C1332399, + UMLS:C1862293, + UMLS:C1862294, + UMLS:C1864273, + UMLS:C1864437, + HGNC:1001, + HGNC_symbol:BCL6 ; biolink:category biolink:Gene . OMIM:109580 a owl:Class ; @@ -8112,13 +8290,14 @@ OMIM:109580 a owl:Class ; PMID:14734530, PMID:2069907, PMID:32165587 ; - oboInOwl:hasDbXref UMLS:C1439347 ; oboInOwl:hasExactSynonym "BTG1", "b-cell antiproliferation factor 1", "b-cell translocation gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:694 ; - skos:exactMatch HGNC_symbol:BTG1 ; + skos:exactMatch UMLS:C1439347, + HGNC:1130, + HGNC_symbol:BTG1 ; biolink:category biolink:Gene . OMIM:109600 a owl:Class ; @@ -8127,9 +8306,9 @@ OMIM:109600 a owl:Class ; PMID:14056925, PMID:5773410, PMID:7493168 ; - oboInOwl:hasDbXref UMLS:C1862292 ; oboInOwl:hasExactSynonym "beeturia", - "betacyaninuria" . + "betacyaninuria" ; + skos:exactMatch UMLS:C1862292 . OMIM:109610 a owl:Class ; rdfs:label "TSPO" ; @@ -8140,7 +8319,6 @@ OMIM:109610 a owl:Class ; PMID:24653034, PMID:8307574, PMID:8401507 ; - oboInOwl:hasDbXref UMLS:C1823521 ; oboInOwl:hasExactSynonym "TSPO", "benzodiazepine peripheral binding site", "benzodiazepine receptor, peripheral", @@ -8148,7 +8326,9 @@ OMIM:109610 a owl:Class ; "translocator protein, 18-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:706 ; - skos:exactMatch HGNC_symbol:TSPO ; + skos:exactMatch UMLS:C1823521, + HGNC:1158, + HGNC_symbol:TSPO ; biolink:category biolink:Gene . OMIM:109630 a owl:Class ; @@ -8181,10 +8361,6 @@ OMIM:109630 a owl:Class ; PMID:3591616 ; RO:0002525 CHR:9606chr10q25.3 ; RO:0003303 OMIM:618591 ; - oboInOwl:hasDbXref UMLS:C1439273, - UMLS:C1821417, - UMLS:C2676080, - UMLS:C5231420 ; oboInOwl:hasExactSynonym "ADRB1", "adrb1r", "b1ar", @@ -8192,7 +8368,12 @@ OMIM:109630 a owl:Class ; "congestive heart failure and beta-blocker response, modifier of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153 ; - skos:exactMatch HGNC_symbol:ADRB1 ; + skos:exactMatch UMLS:C1439273, + UMLS:C1821417, + UMLS:C2676080, + UMLS:C5231420, + HGNC:285, + HGNC_symbol:ADRB1 ; biolink:category biolink:Gene . OMIM:109635 a owl:Class ; @@ -8212,7 +8393,6 @@ OMIM:109635 a owl:Class ; PMID:21960637, PMID:8195124, PMID:9618528 ; - oboInOwl:hasDbXref UMLS:C1366490 ; oboInOwl:hasExactSynonym "GRK2", "bark1", "beta-adrenergic receptor kinase 1", @@ -8220,7 +8400,9 @@ OMIM:109635 a owl:Class ; "g protein-coupled receptor kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:156 ; - skos:exactMatch HGNC_symbol:GRK2 ; + skos:exactMatch UMLS:C1366490, + HGNC:289, + HGNC_symbol:GRK2 ; biolink:category biolink:Gene . OMIM:109636 a owl:Class ; @@ -8229,22 +8411,23 @@ OMIM:109636 a owl:Class ; PMID:1869533, PMID:7695743, PMID:8427589 ; - oboInOwl:hasDbXref UMLS:C1332030 ; oboInOwl:hasExactSynonym "ADRBK2", "bark2", "beta-adrenergic receptor kinase 2", "grk3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157 ; - skos:exactMatch HGNC_symbol:GRK3 ; + skos:exactMatch UMLS:C1332030, + HGNC:290, + HGNC_symbol:GRK3 ; biolink:category biolink:Gene . OMIM:109640 a owl:Class ; rdfs:label "beta-glycerol phosphatase" ; IAO:0000142 PMID:2833154 ; - oboInOwl:hasDbXref UMLS:C1415192 ; oboInOwl:hasExactSynonym "GPB", - "beta-glycerol phosphatase" . + "beta-glycerol phosphatase" ; + skos:exactMatch UMLS:C1415192 . OMIM:109650 a owl:Class ; rdfs:label "Behcet syndrome" ; @@ -8269,9 +8452,9 @@ OMIM:109650 a owl:Class ; PMID:6956266, PMID:718279, PMID:9037047 ; - oboInOwl:hasDbXref UMLS:C0004943 ; oboInOwl:hasExactSynonym "Behcet disease", "Behcet syndrome" ; + skos:exactMatch UMLS:C0004943 ; biolink:category biolink:Disease . OMIM:109675 a owl:Class ; @@ -8282,7 +8465,6 @@ OMIM:109675 a owl:Class ; PMID:2408023, PMID:7786324, PMID:8027041 ; - oboInOwl:hasDbXref UMLS:C1539865 ; oboInOwl:hasExactSynonym "ST6GAL1", "sialyltransferase 1", "st6 beta-galactosamide alpha-2,6-sialyltransferase 1", @@ -8290,7 +8472,9 @@ OMIM:109675 a owl:Class ; "st6n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6480 ; - skos:exactMatch HGNC_symbol:ST6GAL1 ; + skos:exactMatch UMLS:C1539865, + HGNC:10860, + HGNC_symbol:ST6GAL1 ; biolink:category biolink:Gene . OMIM:109684 a owl:Class ; @@ -8302,14 +8486,15 @@ OMIM:109684 a owl:Class ; PMID:2584224, PMID:8075637, PMID:8389226 ; - oboInOwl:hasDbXref UMLS:C1415738 ; oboInOwl:hasExactSynonym "17-beta-hsd 1", "17-beta-hydroxysteroid dehydrogenase 1", "HSD17B1", "estradiol 17-beta-dehydrogenase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3292 ; - skos:exactMatch HGNC_symbol:HSD17B1 ; + skos:exactMatch UMLS:C1415738, + HGNC:5210, + HGNC_symbol:HSD17B1 ; biolink:category biolink:Gene . OMIM:109685 a owl:Class ; @@ -8320,13 +8505,14 @@ OMIM:109685 a owl:Class ; PMID:7759109, PMID:7962560, PMID:8099587 ; - oboInOwl:hasDbXref UMLS:C1333926 ; oboInOwl:hasExactSynonym "17-beta-hsd 2", "17-beta-hydroxysteroid dehydrogenase 2", "HSD17B2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3294 ; - skos:exactMatch HGNC_symbol:HSD17B2 ; + skos:exactMatch UMLS:C1333926, + HGNC:5211, + HGNC_symbol:HSD17B2 ; biolink:category biolink:Gene . OMIM:109690 a owl:Class ; @@ -8382,10 +8568,6 @@ OMIM:109690 a owl:Class ; PMID:9924018 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:601665 ; - oboInOwl:hasDbXref UMLS:C1367657, - UMLS:C1862282, - UMLS:C3835585, - UMLS:C5193154 ; oboInOwl:hasExactSynonym "ADRB2", "adrb2r", "beta-2-adrenergic receptor", @@ -8394,7 +8576,12 @@ OMIM:109690 a owl:Class ; "beta-adrenergic receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154 ; - skos:exactMatch HGNC_symbol:ADRB2 ; + skos:exactMatch UMLS:C1367657, + UMLS:C1862282, + UMLS:C3835585, + UMLS:C5193154, + HGNC:286, + HGNC_symbol:ADRB2 ; biolink:category biolink:Gene . OMIM:109691 a owl:Class ; @@ -8422,12 +8609,13 @@ OMIM:109691 a owl:Class ; PMID:9892244 ; RO:0002525 CHR:9606chr8p11.23 ; RO:0003303 OMIM:601665 ; - oboInOwl:hasDbXref UMLS:C1439274 ; oboInOwl:hasExactSynonym "ADRB3", "beta-3-adrenergic receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155 ; - skos:exactMatch HGNC_symbol:ADRB3 ; + skos:exactMatch UMLS:C1439274, + HGNC:288, + HGNC_symbol:ADRB3 ; biolink:category biolink:Gene . OMIM:109700 a owl:Class ; @@ -8465,22 +8653,24 @@ OMIM:109700 a owl:Class ; PMID:88301 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:241600 ; - oboInOwl:hasDbXref UMLS:C1412709 ; oboInOwl:hasExactSynonym "B2M", "beta-2-microglobulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:567 ; - skos:exactMatch HGNC_symbol:B2M ; + skos:exactMatch UMLS:C1412709, + HGNC:914, + HGNC_symbol:B2M ; biolink:category biolink:Gene . OMIM:109710 a owl:Class ; rdfs:label "B2MR" ; - oboInOwl:hasDbXref UMLS:C1412710 ; oboInOwl:hasExactSynonym "B2MR", "beta-2-microglobulin regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:568 ; - skos:exactMatch HGNC_symbol:B2MR ; + skos:exactMatch UMLS:C1412710, + HGNC:915, + HGNC_symbol:B2MR ; biolink:category biolink:Gene . OMIM:109715 a owl:Class ; @@ -8494,14 +8684,15 @@ OMIM:109715 a owl:Class ; PMID:2779585, PMID:7835088, PMID:8486361 ; - oboInOwl:hasDbXref UMLS:C1415742 ; oboInOwl:hasExactSynonym "3-beta-hsd, placental iia", "3-beta-hydroxysteroid dehydrogenase 1", "3-beta-hydroxysteroid dehydrogenase/delta-isomerase, iia 1", "HSD3B1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3283 ; - skos:exactMatch HGNC_symbol:HSD3B1 ; + skos:exactMatch UMLS:C1415742, + HGNC:5217, + HGNC_symbol:HSD3B1 ; biolink:category biolink:Gene . OMIM:109720 a owl:Class ; @@ -8522,18 +8713,18 @@ OMIM:109720 a owl:Class ; PMID:8900092 ; RO:0002525 CHR:9606chr3p12-q13.2 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C4551595 ; oboInOwl:hasExactSynonym "PBC1", "biliary cirrhosis, primary, 1", "pbc" ; rdfs:subClassOf OMIMPS:109720 ; + skos:exactMatch UMLS:C4551595 ; biolink:category biolink:Disease . OMIM:109740 a owl:Class ; rdfs:label "bifid nose, autosomal dominant" ; IAO:0000142 PMID:6711607 ; - oboInOwl:hasDbXref UMLS:C2751431 ; - oboInOwl:hasExactSynonym "bifid nose, autosomal dominant" . + oboInOwl:hasExactSynonym "bifid nose, autosomal dominant" ; + skos:exactMatch UMLS:C2751431 . OMIM:109750 a owl:Class ; rdfs:label "BLVRA" ; @@ -8550,7 +8741,6 @@ OMIM:109750 a owl:Class ; PMID:8950184 ; RO:0002525 CHR:9606chr7p13 ; RO:0003303 OMIM:614156 ; - oboInOwl:hasDbXref UMLS:C1412801 ; oboInOwl:hasExactSynonym "BLVRA", "biliverdin ix-alpha reductase", "biliverdin reductase a", @@ -8559,7 +8749,9 @@ OMIM:109750 a owl:Class ; "bvra" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644 ; - skos:exactMatch HGNC_symbol:BLVRA ; + skos:exactMatch UMLS:C1412801, + HGNC:1062, + HGNC_symbol:BLVRA ; biolink:category biolink:Gene . OMIM:109760 a owl:Class ; @@ -8581,14 +8773,15 @@ OMIM:109760 a owl:Class ; PMID:9860934 ; RO:0002525 CHR:9606chr5q12.3 ; RO:0003303 OMIM:614674 ; - oboInOwl:hasDbXref UMLS:C1415803 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 1a", "HTR1A", "beta-2-adrenergic receptor-like protein g-21", "serotonin 5-ht-1a receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3350 ; - skos:exactMatch HGNC_symbol:HTR1A ; + skos:exactMatch UMLS:C1415803, + HGNC:5286, + HGNC_symbol:HTR1A ; biolink:category biolink:Gene . OMIM:109770 a owl:Class ; @@ -8616,8 +8809,6 @@ OMIM:109770 a owl:Class ; PMID:7851896, PMID:7909665, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1413306, - UMLS:C1862279 ; oboInOwl:hasExactSynonym "CEACAM1", "biliary glycoprotein", "biliary glycoprotein 1", @@ -8629,7 +8820,10 @@ OMIM:109770 a owl:Class ; "ceacamps" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:634 ; - skos:exactMatch HGNC_symbol:CEACAM1 ; + skos:exactMatch UMLS:C1413306, + UMLS:C1862279, + HGNC:1814, + HGNC_symbol:CEACAM1 ; biolink:category biolink:Gene . OMIM:109780 a owl:Class ; @@ -8641,10 +8835,10 @@ OMIM:109780 a owl:Class ; PMID:6462245, PMID:6542174, PMID:6855886 ; - oboInOwl:hasDbXref UMLS:C1862276 ; oboInOwl:hasExactSynonym "banded krait minor satellite DNA", "bkm DNA", - "bkma2" . + "bkma2" ; + skos:exactMatch UMLS:C1862276 . OMIM:109800 a owl:Class ; rdfs:label "bladder cancer" ; @@ -8681,15 +8875,15 @@ OMIM:109800 a owl:Class ; PMID:8709350, PMID:9112497, PMID:994212 ; - oboInOwl:hasDbXref UMLS:C0005684 ; oboInOwl:hasExactSynonym "bladder cancer" ; + skos:exactMatch UMLS:C0005684 ; biolink:category biolink:Disease . OMIM:109820 a owl:Class ; rdfs:label "bladder diverticulum" ; IAO:0000142 PMID:6422057 ; - oboInOwl:hasDbXref UMLS:C0156273 ; - oboInOwl:hasExactSynonym "bladder diverticulum" . + oboInOwl:hasExactSynonym "bladder diverticulum" ; + skos:exactMatch UMLS:C0156273 . OMIM:109900 a owl:Class ; rdfs:label "blepharochalasis and double 51p" ; @@ -8697,24 +8891,24 @@ OMIM:109900 a owl:Class ; PMID:13295562, PMID:14699621, PMID:4507440 ; - oboInOwl:hasDbXref UMLS:C0339085 ; oboInOwl:hasExactSynonym "ascher syndrome", - "blepharochalasis and double 51p" . + "blepharochalasis and double 51p" ; + skos:exactMatch UMLS:C0339085 . OMIM:110000 a owl:Class ; rdfs:label "blepharochalasis, superior" ; IAO:0000142 PMID:4160498 ; - oboInOwl:hasDbXref UMLS:C1862275 ; - oboInOwl:hasExactSynonym "blepharochalasis, superior" . + oboInOwl:hasExactSynonym "blepharochalasis, superior" ; + skos:exactMatch UMLS:C1862275 . OMIM:110050 a owl:Class ; rdfs:label "blepharonasofacial malformation syndrome" ; IAO:0000142 PMID:10631920, PMID:4692594, PMID:4748203 ; - oboInOwl:hasDbXref UMLS:C0796197 ; oboInOwl:hasExactSynonym "blepharonasofacial malformation syndrome", - "pashayan syndrome" . + "pashayan syndrome" ; + skos:exactMatch UMLS:C0796197 . OMIM:110100 a owl:Class ; rdfs:label "blepharophimosis, ptosis, and epicanthus inversus" ; @@ -8770,10 +8964,6 @@ OMIM:110100 a owl:Class ; PMID:9321768, PMID:9450857, PMID:9799597 ; - oboInOwl:hasDbXref UMLS:C0220663, - ORPHA:126, - ORPHA:572354, - ORPHA:572361 ; oboInOwl:hasExactSynonym "BPES", "blepharophimosis, ptosis, and epicanthus inversus", "bpes with duane retraction syndrome", @@ -8781,18 +8971,22 @@ OMIM:110100 a owl:Class ; "bpes without ovarian failure", "bpes, iia 1", "bpes, iia 2" ; + skos:exactMatch UMLS:C0220663, + ORPHA:126, + ORPHA:572354, + ORPHA:572361 ; biolink:category biolink:Disease . OMIM:110150 a owl:Class ; rdfs:label "blepharoptosis, myopia, and ectopia lentis" ; IAO:0000142 PMID:6978128 ; - oboInOwl:hasDbXref UMLS:C1862259 ; - oboInOwl:hasExactSynonym "blepharoptosis, myopia, and ectopia lentis" . + oboInOwl:hasExactSynonym "blepharoptosis, myopia, and ectopia lentis" ; + skos:exactMatch UMLS:C1862259 . OMIM:110250 a owl:Class ; rdfs:label "blood group--abo suppressor" ; - oboInOwl:hasDbXref UMLS:C1862258 ; - oboInOwl:hasExactSynonym "blood group--abo suppressor" . + oboInOwl:hasExactSynonym "blood group--abo suppressor" ; + skos:exactMatch UMLS:C1862258 . OMIM:110300 a owl:Class ; rdfs:label "ABO" ; @@ -8824,7 +9018,6 @@ OMIM:110300 a owl:Class ; PMID:9099833 ; RO:0002525 CHR:9606chr9q34.2 ; RO:0003303 OMIM:616093 ; - oboInOwl:hasDbXref UMLS:C1412099 ; oboInOwl:hasExactSynonym "ABO", "abo glycosyltransferase", "abo histo-blood group glycosyltransferases", @@ -8832,14 +9025,16 @@ OMIM:110300 a owl:Class ; "transferase b, alpha 1-3-galactosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28 ; - skos:exactMatch HGNC_symbol:ABO ; + skos:exactMatch UMLS:C1412099, + HGNC:79, + HGNC_symbol:ABO ; biolink:category biolink:Gene . OMIM:110310 a owl:Class ; rdfs:label "blood group--abh antigen, iia 2" ; IAO:0000142 PMID:6167165 ; - oboInOwl:hasDbXref UMLS:C1862249 ; - oboInOwl:hasExactSynonym "blood group--abh antigen, iia 2" . + oboInOwl:hasExactSynonym "blood group--abh antigen, iia 2" ; + skos:exactMatch UMLS:C1862249 . OMIM:110500 a owl:Class ; rdfs:label "blood group, diego system" ; @@ -8849,10 +9044,10 @@ OMIM:110500 a owl:Class ; PMID:1519367, PMID:7902326, PMID:8206915 ; - oboInOwl:hasDbXref UMLS:C1292286 ; oboInOwl:hasExactSynonym "DI", "blood group, diego system", "diego blood group system" ; + skos:exactMatch UMLS:C1292286 ; biolink:category biolink:Disease . OMIM:110700 a owl:Class ; @@ -8882,19 +9077,19 @@ OMIM:110700 a owl:Class ; PMID:879169, PMID:9731074, PMID:9886340 ; - oboInOwl:hasDbXref UMLS:C0013278, - UMLS:C1970105 ; oboInOwl:hasExactSynonym "FY", "blood group, duffy system", "duffy blood group system", "plasmodium vivax, resistance to" ; + skos:exactMatch UMLS:C0013278, + UMLS:C1970105 ; biolink:category biolink:Disease . OMIM:110720 a owl:Class ; rdfs:label "blood group--en" ; IAO:0000142 PMID:5359398 ; - oboInOwl:hasDbXref UMLS:C1862238 ; - oboInOwl:hasExactSynonym "blood group--en" . + oboInOwl:hasExactSynonym "blood group--en" ; + skos:exactMatch UMLS:C1862238 . OMIM:110750 a owl:Class ; rdfs:label "GYPC" ; @@ -8920,8 +9115,6 @@ OMIM:110750 a owl:Class ; PMID:8219208 ; RO:0002525 CHR:9606chr2q14.3 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1415375, - UMLS:C4017662 ; oboInOwl:hasExactSynonym "GYPC", "glycophorin c", "glycophorin d", @@ -8930,7 +9123,10 @@ OMIM:110750 a owl:Class ; "sialoglycoprotein, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2995 ; - skos:exactMatch HGNC_symbol:GYPC ; + skos:exactMatch UMLS:C1415375, + UMLS:C4017662, + HGNC:4704, + HGNC_symbol:GYPC ; biolink:category biolink:Gene . OMIM:111100 a owl:Class ; @@ -8945,23 +9141,24 @@ OMIM:111100 a owl:Class ; PMID:9703429 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:618983 ; - oboInOwl:hasDbXref UMLS:C1414864, - UMLS:C4015916 ; oboInOwl:hasExactSynonym "FUT3", "fucosyltransferase 3", "lewis enzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2525 ; - skos:exactMatch HGNC_symbol:FUT3 ; + skos:exactMatch UMLS:C1414864, + UMLS:C4015916, + HGNC:4014, + HGNC_symbol:FUT3 ; biolink:category biolink:Gene . OMIM:111130 a owl:Class ; rdfs:label "blood group--lke" ; IAO:0000142 PMID:3250330 ; - oboInOwl:hasDbXref UMLS:C1862216 ; oboInOwl:hasExactSynonym "LKE", "blood group--lke", "blood group--luke, formerly" ; + skos:exactMatch UMLS:C1862216 ; biolink:category biolink:Disease . OMIM:111150 a owl:Class ; @@ -8974,10 +9171,10 @@ OMIM:111150 a owl:Class ; PMID:4682512, PMID:6465841, PMID:955641 ; - oboInOwl:hasDbXref UMLS:C1292231 ; oboInOwl:hasExactSynonym "INLU", "blood group--lutheran inhibitor", "dominant 50u (a-b-) phenotype" ; + skos:exactMatch UMLS:C1292231 ; biolink:category biolink:Disease . OMIM:111300 a owl:Class ; @@ -9024,21 +9221,21 @@ OMIM:111300 a owl:Class ; PMID:851005, PMID:8535438, PMID:955632 ; - oboInOwl:hasDbXref UMLS:C0026327 ; oboInOwl:hasExactSynonym "MN", "blood group, mn", "blood group, mnss system", "mn blood group", "mns blood group system", "mnss blood group system" ; + skos:exactMatch UMLS:C0026327 ; biolink:category biolink:Disease . OMIM:111360 a owl:Class ; rdfs:label "blood group--newfoundland" ; IAO:0000142 PMID:6336320 ; - oboInOwl:hasDbXref UMLS:C1862210 ; oboInOwl:hasExactSynonym "NFLD", - "blood group--newfoundland" . + "blood group--newfoundland" ; + skos:exactMatch UMLS:C1862210 . OMIM:111410 a owl:Class ; IAO:0100001 OMIM:111400 ; @@ -9047,9 +9244,9 @@ OMIM:111410 a owl:Class ; OMIM:111500 a owl:Class ; rdfs:label "blood group--private systems" ; IAO:0000142 PMID:4425361 ; - oboInOwl:hasDbXref UMLS:C1862206 ; oboInOwl:hasExactSynonym "antigenic determinants of low frequency 1n the population", "blood group--private systems" ; + skos:exactMatch UMLS:C1862206 ; biolink:category biolink:Disease . OMIM:111620 a owl:Class ; @@ -9058,10 +9255,10 @@ OMIM:111620 a owl:Class ; PMID:12393480, PMID:6069618, PMID:6459052 ; - oboInOwl:hasDbXref UMLS:C1862204 ; oboInOwl:hasExactSynonym "RD", "blood group--radin antigen", "radin blood group antigen" ; + skos:exactMatch UMLS:C1862204 ; biolink:category biolink:Disease . OMIM:111680 a owl:Class ; @@ -9094,14 +9291,15 @@ OMIM:111680 a owl:Class ; PMID:9864185 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:619462 ; - oboInOwl:hasDbXref UMLS:C1419382 ; oboInOwl:hasExactSynonym "RHD", "blood group--rhesus system d polypeptide", "rh factor", "rhesus blood group, d antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6007 ; - skos:exactMatch HGNC_symbol:RHD ; + skos:exactMatch UMLS:C1419382, + HGNC:10009, + HGNC_symbol:RHD ; biolink:category biolink:Gene . OMIM:111690 a owl:Class ; @@ -9170,7 +9368,6 @@ OMIM:111700 a owl:Class ; PMID:9929383 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:617970 ; - oboInOwl:hasDbXref UMLS:C1419381 ; oboInOwl:hasExactSynonym "RHCE", "blood group--rhesus system cc/ee polypeptide", "rhc", @@ -9178,7 +9375,9 @@ OMIM:111700 a owl:Class ; "rhesus blood group, ccee antigens" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6006 ; - skos:exactMatch HGNC_symbol:RHCE ; + skos:exactMatch UMLS:C1419381, + HGNC:10008, + HGNC_symbol:RHCE ; biolink:category biolink:Gene . OMIM:111740 a owl:Class ; @@ -9195,38 +9394,38 @@ OMIM:111740 a owl:Class ; PMID:7015145, PMID:7040988, PMID:7052193 ; - oboInOwl:hasDbXref UMLS:C4551874 ; oboInOwl:hasExactSynonym "Ss", "blood group, ss", "ss blood group" ; + skos:exactMatch UMLS:C4551874 ; biolink:category biolink:Disease . OMIM:112000 a owl:Class ; rdfs:label "blood group--ul system" ; IAO:0000142 PMID:5682166 ; - oboInOwl:hasDbXref UMLS:C1862192 ; oboInOwl:hasExactSynonym "UL", "blood group--ul system" ; + skos:exactMatch UMLS:C1862192 ; biolink:category biolink:Disease . OMIM:112010 a owl:Class ; rdfs:label "blood group--waldner iia" ; IAO:0000142 PMID:6941697, PMID:7774942 ; - oboInOwl:hasDbXref UMLS:C1862191 ; oboInOwl:hasExactSynonym "WD", "blood group--waldner iia", "waldner blood group antigen" ; + skos:exactMatch UMLS:C1862191 ; biolink:category biolink:Disease . OMIM:112050 a owl:Class ; rdfs:label "blood group--wright antigen" ; IAO:0000142 PMID:13070555, PMID:7812009 ; - oboInOwl:hasDbXref UMLS:C1862190 ; oboInOwl:hasExactSynonym "WR", "blood group--wright antigen", "wright blood group antigen" ; + skos:exactMatch UMLS:C1862190 ; biolink:category biolink:Disease . OMIM:112200 a owl:Class ; @@ -9245,9 +9444,9 @@ OMIM:112200 a owl:Class ; PMID:6662253, PMID:7783168, PMID:872712 ; - oboInOwl:hasDbXref UMLS:C0346072 ; oboInOwl:hasExactSynonym "bean syndrome", "blue rubber bleb nevus" ; + skos:exactMatch UMLS:C0346072 ; biolink:category biolink:Disease . OMIM:112203 a owl:Class ; @@ -9265,7 +9464,6 @@ OMIM:112203 a owl:Class ; PMID:31000591, PMID:3871395, PMID:9250865 ; - oboInOwl:hasDbXref UMLS:C1366561 ; oboInOwl:hasExactSynonym "CD80", "b-lymphocyte activation antigen b7-1", "b71 antigen", @@ -9273,7 +9471,9 @@ OMIM:112203 a owl:Class ; "cd80 antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:941 ; - skos:exactMatch HGNC_symbol:CD80 ; + skos:exactMatch UMLS:C1366561, + HGNC:1700, + HGNC_symbol:CD80 ; biolink:category biolink:Gene . OMIM:112210 a owl:Class ; @@ -9288,15 +9488,16 @@ OMIM:112210 a owl:Class ; PMID:8325649 ; RO:0002525 CHR:9606chr11q12.2 ; RO:0003303 OMIM:613495 ; - oboInOwl:hasDbXref UMLS:C1417326, - UMLS:C3150740 ; oboInOwl:hasExactSynonym "MS4A1", "b-lymphocyte surface antigen b1", "cd20", "membrane-spanning 4 domains, subfamily a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:931 ; - skos:exactMatch HGNC_symbol:MS4A1 ; + skos:exactMatch UMLS:C1417326, + UMLS:C3150740, + HGNC:7315, + HGNC_symbol:MS4A1 ; biolink:category biolink:Gene . OMIM:112260 a owl:Class ; @@ -9319,7 +9520,6 @@ OMIM:112260 a owl:Class ; PMID:7915557, PMID:8923469, PMID:9182762 ; - oboInOwl:hasDbXref UMLS:C1412791 ; oboInOwl:hasExactSynonym "BGLAP", "bone gamma-carboxyglutamic acid protein", "bone gla protein", @@ -9327,7 +9527,9 @@ OMIM:112260 a owl:Class ; "osteocalcin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:632 ; - skos:exactMatch HGNC_symbol:BGLAP ; + skos:exactMatch UMLS:C1412791, + HGNC:1043, + HGNC_symbol:BGLAP ; biolink:category biolink:Gene . OMIM:112261 a owl:Class ; @@ -9361,15 +9563,16 @@ OMIM:112261 a owl:Class ; PMID:9323126 ; RO:0002525 CHR:9606chr20p12.3 ; RO:0003303 OMIM:235200 ; - oboInOwl:hasDbXref UMLS:C1332424, - UMLS:C3276340 ; oboInOwl:hasExactSynonym "BMP2", "bone morphogenetic protein 2", "bone morphogenetic protein 2a", "regulatory element, cis-acting, enhancer, 110 kb downstream of bmp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:650 ; - skos:exactMatch HGNC_symbol:BMP2 ; + skos:exactMatch UMLS:C1332424, + UMLS:C3276340, + HGNC:1069, + HGNC_symbol:BMP2 ; biolink:category biolink:Gene . OMIM:112262 a owl:Class ; @@ -9411,14 +9614,15 @@ OMIM:112262 a owl:Class ; PMID:9851982 ; RO:0002525 CHR:9606chr14q22.2 ; RO:0003303 OMIM:600625 ; - oboInOwl:hasDbXref UMLS:C1412805 ; oboInOwl:hasExactSynonym "BMP4", "bmp2b1", "bone morphogenetic protein 2b", "bone morphogenetic protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:652 ; - skos:exactMatch HGNC_symbol:BMP4 ; + skos:exactMatch UMLS:C1412805, + HGNC:1071, + HGNC_symbol:BMP4 ; biolink:category biolink:Gene . OMIM:112263 a owl:Class ; @@ -9430,13 +9634,14 @@ OMIM:112263 a owl:Class ; PMID:22876193, PMID:2547759, PMID:2612162 ; - oboInOwl:hasDbXref UMLS:C1332425 ; oboInOwl:hasExactSynonym "BMP3", "bone morphogenetic protein 3", "osteogenin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:651 ; - skos:exactMatch HGNC_symbol:BMP3 ; + skos:exactMatch UMLS:C1332425, + HGNC:1070, + HGNC_symbol:BMP3 ; biolink:category biolink:Gene . OMIM:112264 a owl:Class ; @@ -9462,15 +9667,16 @@ OMIM:112264 a owl:Class ; PMID:8553073 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:614856 ; - oboInOwl:hasDbXref UMLS:C1412804, - UMLS:C3553887 ; oboInOwl:hasExactSynonym "BMP1", "bone morphogenetic protein 1", "procollagen c-proteinase", "tolloid, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:649 ; - skos:exactMatch HGNC_symbol:BMP1 ; + skos:exactMatch UMLS:C1412804, + UMLS:C3553887, + HGNC:1067, + HGNC_symbol:BMP1 ; biolink:category biolink:Gene . OMIM:112265 a owl:Class ; @@ -9482,12 +9688,13 @@ OMIM:112265 a owl:Class ; PMID:2263636, PMID:5319761, PMID:8630036 ; - oboInOwl:hasDbXref UMLS:C1332426 ; oboInOwl:hasExactSynonym "BMP5", "bone morphogenetic protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653 ; - skos:exactMatch HGNC_symbol:BMP5 ; + skos:exactMatch UMLS:C1332426, + HGNC:1072, + HGNC_symbol:BMP5 ; biolink:category biolink:Gene . OMIM:112267 a owl:Class ; @@ -9513,27 +9720,28 @@ OMIM:112267 a owl:Class ; PMID:7590254, PMID:8561774, PMID:9013703 ; - oboInOwl:hasDbXref UMLS:C1332428 ; oboInOwl:hasExactSynonym "BMP7", "bone morphogenetic protein 7", "osteogenic protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:655 ; - skos:exactMatch HGNC_symbol:BMP7 ; + skos:exactMatch UMLS:C1332428, + HGNC:1074, + HGNC_symbol:BMP7 ; biolink:category biolink:Gene . OMIM:112270 a owl:Class ; rdfs:label "bone pain, periodic" ; IAO:0000142 PMID:4422268 ; - oboInOwl:hasDbXref UMLS:C1862176 ; - oboInOwl:hasExactSynonym "bone pain, periodic" . + oboInOwl:hasExactSynonym "bone pain, periodic" ; + skos:exactMatch UMLS:C1862176 . OMIM:112300 a owl:Class ; rdfs:label "book syndrome" ; IAO:0000142 PMID:14810689 ; - oboInOwl:hasDbXref UMLS:C0457014 ; oboInOwl:hasExactSynonym "book syndrome", "phc syndrome" ; + skos:exactMatch UMLS:C0457014 ; biolink:category biolink:Disease . OMIM:112310 a owl:Class ; @@ -9548,10 +9756,10 @@ OMIM:112310 a owl:Class ; PMID:7194471, PMID:8291529, PMID:9024569 ; - oboInOwl:hasDbXref UMLS:C0432201, - ORPHA:1263 ; oboInOwl:hasExactSynonym "BOOMD", "boomerang dysplasia" ; + skos:exactMatch UMLS:C0432201, + ORPHA:1263 ; biolink:category biolink:Disease . OMIM:112350 a owl:Class ; @@ -9568,35 +9776,35 @@ OMIM:112350 a owl:Class ; PMID:5431505, PMID:6779527, PMID:7761160 ; - oboInOwl:hasDbXref UMLS:C1862172 ; oboInOwl:hasExactSynonym "WNS", "bowing of legs, anterior, with dwarfism", "toxopachyosteose diaphysaire tibio-peroniere", "weismann-netter syndrome" ; + skos:exactMatch UMLS:C1862172 ; biolink:category biolink:Disease . OMIM:112370 a owl:Class ; rdfs:label "brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay" ; IAO:0000142 PMID:1536185 ; - oboInOwl:hasDbXref UMLS:C1862171 ; - oboInOwl:hasExactSynonym "brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay" . + oboInOwl:hasExactSynonym "brachmann-de lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay" ; + skos:exactMatch UMLS:C1862171 . OMIM:112430 a owl:Class ; rdfs:label "long-thumb brachydactyly syndrome" ; IAO:0000142 PMID:7246605 ; - oboInOwl:hasDbXref UMLS:C1862169 ; oboInOwl:hasExactSynonym "brachydactyly, long-thumb iia", - "long-thumb brachydactyly syndrome" . + "long-thumb brachydactyly syndrome" ; + skos:exactMatch UMLS:C1862169 . OMIM:112440 a owl:Class ; rdfs:label "brachydactyly, combined B and e types" ; IAO:0000142 PMID:15266625, PMID:4009643, PMID:5703222 ; - oboInOwl:hasDbXref UMLS:C1862163 ; oboInOwl:hasExactSynonym "brachydactyly, ballard iia", "brachydactyly, combined B and e types", "pitt-williams brachydactyly" ; + skos:exactMatch UMLS:C1862163 ; biolink:category biolink:Disease . OMIM:112450 a owl:Class ; @@ -9604,9 +9812,9 @@ OMIM:112450 a owl:Class ; IAO:0000142 PMID:1632443, PMID:5082920, PMID:8209885 ; - oboInOwl:hasDbXref UMLS:C1862162 ; oboInOwl:hasExactSynonym "brachydactyly, preaxial, with hallux varus and thumb abduction", - "christian brachydactyly" . + "christian brachydactyly" ; + skos:exactMatch UMLS:C1862162 . OMIM:112700 a owl:Class ; rdfs:label "brachydactyly, iia a3" ; @@ -9614,11 +9822,11 @@ OMIM:112700 a owl:Class ; PMID:14277138, PMID:18494372, PMID:7416253 ; - oboInOwl:hasDbXref UMLS:C1862140 ; oboInOwl:hasExactSynonym "BDA3", "brachydactyly, iia a3", "brachydactyly-clinodactyly", "brachymesophalangy 5" ; + skos:exactMatch UMLS:C1862140 ; biolink:category biolink:Disease . OMIM:112900 a owl:Class ; @@ -9630,11 +9838,11 @@ OMIM:112910 a owl:Class ; IAO:0000142 PMID:3425625, PMID:4073128, PMID:4073129 ; - oboInOwl:hasDbXref UMLS:C1862130 ; oboInOwl:hasExactSynonym "brachydactyly, iia a6", "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities", "osebold-remondini syndrome" ; - rdfs:subClassOf OMIMPS:602875 . + rdfs:subClassOf OMIMPS:602875 ; + skos:exactMatch UMLS:C1862130 . OMIM:113000 a owl:Class ; rdfs:label "brachydactyly, iia b1" ; @@ -9651,12 +9859,12 @@ OMIM:113000 a owl:Class ; PMID:4748760, PMID:9973295, PMID:9973296 ; - oboInOwl:hasDbXref UMLS:C1862112, - ORPHA:572385, - ORPHA:93383 ; oboInOwl:hasExactSynonym "BDB1", "brachydactyly, iia B", "brachydactyly, iia b1" ; + skos:exactMatch UMLS:C1862112, + ORPHA:572385, + ORPHA:93383 ; biolink:category biolink:Disease . OMIM:113100 a owl:Class ; @@ -9679,11 +9887,11 @@ OMIM:113100 a owl:Class ; PMID:8954778, PMID:9024575, PMID:9288091 ; - oboInOwl:hasDbXref UMLS:C1862103, - ORPHA:93384 ; oboInOwl:hasExactSynonym "BDC", "brachydactyly, iia c", "brachydactyly, haws iia" ; + skos:exactMatch UMLS:C1862103, + ORPHA:93384 ; biolink:category biolink:Disease . OMIM:113200 a owl:Class ; @@ -9692,10 +9900,10 @@ OMIM:113200 a owl:Class ; PMID:12649808, PMID:14295653, PMID:6747264 ; - oboInOwl:hasDbXref UMLS:C0220664 ; oboInOwl:hasExactSynonym "BDD", "brachydactyly, iia d", "stub thumb" ; + skos:exactMatch UMLS:C0220664 ; biolink:category biolink:Disease . OMIM:113300 a owl:Class ; @@ -9710,19 +9918,19 @@ OMIM:113300 a owl:Class ; PMID:7847374, PMID:870942, PMID:8933344 ; - oboInOwl:hasDbXref UMLS:C1862102, - UMLS:C4315392, - ORPHA:93387 ; oboInOwl:hasExactSynonym "BDE1", "brachydactyly, iia e", "brachydactyly, iia e1" ; + skos:exactMatch UMLS:C1862102, + UMLS:C4315392, + ORPHA:93387 ; biolink:category biolink:Disease . OMIM:113301 a owl:Class ; rdfs:label "brachydactyly, iia e, with atrial septal defect, iia 2" ; IAO:0000142 PMID:2591402 ; - oboInOwl:hasDbXref UMLS:C1862101 ; - oboInOwl:hasExactSynonym "brachydactyly, iia e, with atrial septal defect, iia 2" . + oboInOwl:hasExactSynonym "brachydactyly, iia e, with atrial septal defect, iia 2" ; + skos:exactMatch UMLS:C1862101 . OMIM:113310 a owl:Class ; rdfs:label "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" ; @@ -9734,33 +9942,33 @@ OMIM:113310 a owl:Class ; PMID:2178076, PMID:5994965, PMID:9545400 ; - oboInOwl:hasDbXref UMLS:C1862100 ; - oboInOwl:hasExactSynonym "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" . + oboInOwl:hasExactSynonym "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" ; + skos:exactMatch UMLS:C1862100 . OMIM:113400 a owl:Class ; rdfs:label "brachydactyly-nystagmus-cerebellar ataxia" ; - oboInOwl:hasDbXref UMLS:C1862099 ; - oboInOwl:hasExactSynonym "brachydactyly-nystagmus-cerebellar ataxia" . + oboInOwl:hasExactSynonym "brachydactyly-nystagmus-cerebellar ataxia" ; + skos:exactMatch UMLS:C1862099 . OMIM:113450 a owl:Class ; rdfs:label "brachydactyly-distal symphalangism syndrome" ; IAO:0000142 PMID:671485 ; - oboInOwl:hasDbXref UMLS:C1862092 ; - oboInOwl:hasExactSynonym "brachydactyly-distal symphalangism syndrome" . + oboInOwl:hasExactSynonym "brachydactyly-distal symphalangism syndrome" ; + skos:exactMatch UMLS:C1862092 . OMIM:113470 a owl:Class ; rdfs:label "brachymesomelia-renal syndrome" ; IAO:0000142 PMID:6859124 ; - oboInOwl:hasDbXref UMLS:C1862084 ; - oboInOwl:hasExactSynonym "brachymesomelia-renal syndrome" . + oboInOwl:hasExactSynonym "brachymesomelia-renal syndrome" ; + skos:exactMatch UMLS:C1862084 . OMIM:113475 a owl:Class ; rdfs:label "brachymetatarsus 4" ; IAO:0000142 PMID:5222548 ; - oboInOwl:hasDbXref UMLS:C1862083 ; oboInOwl:hasExactSynonym "brachymetatarsus 4", "metatarsus iv, short", - "toe, fourth, short" . + "toe, fourth, short" ; + skos:exactMatch UMLS:C1862083 . OMIM:113477 a owl:Class ; rdfs:label "brachymorphism-onychodysplasia-dysphalangism syndrome" ; @@ -9768,15 +9976,15 @@ OMIM:113477 a owl:Class ; PMID:4119233, PMID:5567413, PMID:8445623 ; - oboInOwl:hasDbXref UMLS:C1862082 ; oboInOwl:hasExactSynonym "bod syndrome", - "brachymorphism-onychodysplasia-dysphalangism syndrome" . + "brachymorphism-onychodysplasia-dysphalangism syndrome" ; + skos:exactMatch UMLS:C1862082 . OMIM:113480 a owl:Class ; rdfs:label "brachytelephalangy with characteristic facies and kallmann syndrome" ; IAO:0000142 PMID:3728571 ; - oboInOwl:hasDbXref UMLS:C2931421 ; - oboInOwl:hasExactSynonym "brachytelephalangy with characteristic facies and kallmann syndrome" . + oboInOwl:hasExactSynonym "brachytelephalangy with characteristic facies and kallmann syndrome" ; + skos:exactMatch UMLS:C2931421 . OMIM:113500 a owl:Class ; rdfs:label "brachyolmia iia 3" ; @@ -9784,12 +9992,12 @@ OMIM:113500 a owl:Class ; PMID:18587396, PMID:2669482, PMID:8209891 ; - oboInOwl:hasDbXref UMLS:C0432227, - ORPHA:93304 ; oboInOwl:hasExactSynonym "BCYM3", "brachyolmia iia 3", "brachyolmia, autosomal dominant", "brachyrachia" ; + skos:exactMatch UMLS:C0432227, + ORPHA:93304 ; biolink:category biolink:Disease . OMIM:113503 a owl:Class ; @@ -9805,13 +10013,14 @@ OMIM:113503 a owl:Class ; PMID:7835885, PMID:7916737, PMID:9880221 ; - oboInOwl:hasDbXref UMLS:C1332407 ; oboInOwl:hasExactSynonym "BDKRB2", "bradykinin receptor 2", "bradykinin receptor b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:624 ; - skos:exactMatch HGNC_symbol:BDKRB2 ; + skos:exactMatch UMLS:C1332407, + HGNC:1030, + HGNC_symbol:BDKRB2 ; biolink:category biolink:Gene . OMIM:113505 a owl:Class ; @@ -9889,14 +10098,15 @@ OMIM:113505 a owl:Class ; PMID:3336438, PMID:7746324, PMID:7746325 ; - oboInOwl:hasDbXref UMLS:C1332408, - UMLS:C4015968, - UMLS:C4694116 ; oboInOwl:hasExactSynonym "BDNF", "brain-derived neurotrophic factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:627 ; - skos:exactMatch HGNC_symbol:BDNF ; + skos:exactMatch UMLS:C1332408, + UMLS:C4015968, + UMLS:C4694116, + HGNC:1033, + HGNC_symbol:BDNF ; biolink:category biolink:Gene . OMIM:113508 a owl:Class ; @@ -9907,7 +10117,6 @@ OMIM:113508 a owl:Class ; PMID:8617504, PMID:8812417, PMID:9428519 ; - oboInOwl:hasDbXref UMLS:C1421562 ; oboInOwl:hasExactSynonym "14-3-3-eta", "YWHAH", "brain protein 14-3-3, eta isoform", @@ -9915,17 +10124,19 @@ OMIM:113508 a owl:Class ; "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7533 ; - skos:exactMatch HGNC_symbol:YWHAH ; + skos:exactMatch UMLS:C1421562, + HGNC:12853, + HGNC_symbol:YWHAH ; biolink:category biolink:Gene . OMIM:113510 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:552595, PMID:7468590 ; - oboInOwl:hasDbXref UMLS:C1862073 ; oboInOwl:hasExactSynonym "brain-specific protein pc-1", "duarte brain-specific protein" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1862073 ; biolink:category biolink:Gene . OMIM:113520 a owl:Class ; @@ -9941,7 +10152,6 @@ OMIM:113520 a owl:Class ; PMID:8692959, PMID:8702755, PMID:9657861 ; - oboInOwl:hasDbXref UMLS:C1412751 ; oboInOwl:hasExactSynonym "BCAT1", "bct1", "branched-chain aminotransferase 1", @@ -9949,7 +10159,9 @@ OMIM:113520 a owl:Class ; "placental protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:586 ; - skos:exactMatch HGNC_symbol:BCAT1 ; + skos:exactMatch UMLS:C1412751, + HGNC:976, + HGNC_symbol:BCAT1 ; biolink:category biolink:Gene . OMIM:113530 a owl:Class ; @@ -9962,24 +10174,25 @@ OMIM:113530 a owl:Class ; PMID:9657861 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:618850 ; - oboInOwl:hasDbXref UMLS:C1412752, - UMLS:C5394277 ; oboInOwl:hasExactSynonym "BCAT2", "bct2", "branched-chain aminotransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:587 ; - skos:exactMatch HGNC_symbol:BCAT2 ; + skos:exactMatch UMLS:C1412752, + UMLS:C5394277, + HGNC:977, + HGNC_symbol:BCAT2 ; biolink:category biolink:Gene . OMIM:113600 a owl:Class ; rdfs:label "branchial cleft anomalies" ; IAO:0000142 PMID:13773423, PMID:478554 ; - oboInOwl:hasDbXref UMLS:C0006131, - UMLS:C0079037 ; oboInOwl:hasExactSynonym "branchial cleft anomalies", - "branchial cysts" . + "branchial cysts" ; + skos:exactMatch UMLS:C0006131, + UMLS:C0079037 . OMIM:113610 a owl:Class ; rdfs:label "branchial myoclonus with spastic paraparesis and cerebellar ataxia" ; @@ -9988,8 +10201,8 @@ OMIM:113610 a owl:Class ; PMID:3762954, PMID:4022358, PMID:8410038 ; - oboInOwl:hasDbXref UMLS:C1862071 ; - oboInOwl:hasExactSynonym "branchial myoclonus with spastic paraparesis and cerebellar ataxia" . + oboInOwl:hasExactSynonym "branchial myoclonus with spastic paraparesis and cerebellar ataxia" ; + skos:exactMatch UMLS:C1862071 . OMIM:113630 a owl:Class ; IAO:0100001 OMIM:151410 ; @@ -10010,11 +10223,11 @@ OMIM:113670 a owl:Class ; PMID:18054304, PMID:20145678, PMID:6716410 ; - oboInOwl:hasDbXref UMLS:C0405471, - ORPHA:180176 ; oboInOwl:hasExactSynonym "JHB", "gigantomastia, juvenile", "hypertrophy of the breast, juvenile" ; + skos:exactMatch UMLS:C0405471, + ORPHA:180176 ; biolink:category biolink:Disease . OMIM:113700 a owl:Class ; @@ -10024,13 +10237,13 @@ OMIM:113700 a owl:Class ; PMID:3688031, PMID:5082094, PMID:5319112 ; - oboInOwl:hasDbXref UMLS:C0432357 ; oboInOwl:hasExactSynonym "BNAH1", "amastia", "amazia", "athelia", "breasts and/or nipples, aplasia or hypoplasia of, 1" ; rdfs:subClassOf OMIMPS:113700 ; + skos:exactMatch UMLS:C0432357 ; biolink:category biolink:Disease . OMIM:113703 a owl:Class ; @@ -10042,15 +10255,16 @@ OMIM:113703 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:618728 ; - oboInOwl:hasDbXref UMLS:C1335636, - UMLS:C5231478 ; oboInOwl:hasExactSynonym "RPL13", "breast basic conserved gene 1", "d16s444e", "ribosomal protein l13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6137 ; - skos:exactMatch HGNC_symbol:RPL13 ; + skos:exactMatch UMLS:C1335636, + UMLS:C5231478, + HGNC:10303, + HGNC_symbol:RPL13 ; biolink:category biolink:Gene . OMIM:113705 a owl:Class ; @@ -10246,18 +10460,19 @@ OMIM:113705 a owl:Class ; PMID:9927062 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:614320 ; - oboInOwl:hasDbXref UMLS:C0376571, - UMLS:C2676676, - UMLS:C3280442, - UMLS:C3469525, - UMLS:C4015968, - UMLS:C4554406 ; oboInOwl:hasExactSynonym "BRCA1", "brca1 DNA repair-associated protein", "breast cancer 1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:672 ; - skos:exactMatch HGNC_symbol:BRCA1 ; + skos:exactMatch UMLS:C0376571, + UMLS:C2676676, + UMLS:C3280442, + UMLS:C3469525, + UMLS:C4015968, + UMLS:C4554406, + HGNC:1100, + HGNC_symbol:BRCA1 ; biolink:category biolink:Gene . OMIM:113720 a owl:Class ; @@ -10266,18 +10481,18 @@ OMIM:113720 a owl:Class ; PMID:6094338, PMID:6285346 ; IAO:0100001 OMIM:158340 ; - oboInOwl:hasDbXref UMLS:C1862008 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1862008 . OMIM:113721 a owl:Class ; rdfs:label "breast cancer-related regulator of tp53" ; IAO:0000142 PMID:1976143, PMID:8589680 ; RO:0002525 CHR:9606chr17p13.3 ; - oboInOwl:hasDbXref UMLS:C1332403 ; oboInOwl:hasExactSynonym "bcpr", "breast cancer suppressor", - "breast cancer-related regulator of tp53" . + "breast cancer-related regulator of tp53" ; + skos:exactMatch UMLS:C1332403 . OMIM:113725 a owl:Class ; rdfs:label "POU4F2" ; @@ -10291,14 +10506,15 @@ OMIM:113725 a owl:Class ; PMID:7691107, PMID:8835784, PMID:8995448 ; - oboInOwl:hasDbXref UMLS:C1418766 ; oboInOwl:hasExactSynonym "POU4F2", "brn3.2, mouse, homolog of", "pou domain, class 4, transcription factor 2", "pou-domain transcription factor brn3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5458 ; - skos:exactMatch HGNC_symbol:POU4F2 ; + skos:exactMatch UMLS:C1418766, + HGNC:9219, + HGNC_symbol:POU4F2 ; biolink:category biolink:Gene . OMIM:113730 a owl:Class ; @@ -10324,7 +10540,6 @@ OMIM:113730 a owl:Class ; PMID:9139827, PMID:9139828, PMID:9398715 ; - oboInOwl:hasDbXref UMLS:C1421313 ; oboInOwl:hasExactSynonym "UCP1", "brown adipose tissue uncoupling protein", "thermogenin", @@ -10332,28 +10547,30 @@ OMIM:113730 a owl:Class ; "uncoupling protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7350 ; - skos:exactMatch HGNC_symbol:UCP1 ; + skos:exactMatch UMLS:C1421313, + HGNC:12517, + HGNC_symbol:UCP1 ; biolink:category biolink:Gene . OMIM:113950 a owl:Class ; rdfs:label "bundle branch block, familial isolated complete right" ; IAO:0000142 PMID:1156482 ; - oboInOwl:hasDbXref UMLS:C0340504 ; oboInOwl:hasExactSynonym "bundle branch block, familial isolated complete right" ; + skos:exactMatch UMLS:C0340504 ; biolink:category biolink:Disease . OMIM:113955 a owl:Class ; rdfs:label "bungarotoxin, alpha, receptor for" ; IAO:0000142 PMID:1542648 ; - oboInOwl:hasDbXref UMLS:C3888101 ; oboInOwl:hasExactSynonym "BGTXR", - "bungarotoxin, alpha, receptor for" . + "bungarotoxin, alpha, receptor for" ; + skos:exactMatch UMLS:C3888101 . OMIM:113960 a owl:Class ; rdfs:label "butyrylesterase 1" ; IAO:0000142 PMID:6852820 ; - oboInOwl:hasDbXref UMLS:C1861981 ; - oboInOwl:hasExactSynonym "butyrylesterase 1" . + oboInOwl:hasExactSynonym "butyrylesterase 1" ; + skos:exactMatch UMLS:C1861981 . OMIM:113995 a owl:Class ; rdfs:label "C5AR1" ; @@ -10369,7 +10586,6 @@ OMIM:113995 a owl:Class ; PMID:8779720, PMID:9090385, PMID:9700192 ; - oboInOwl:hasDbXref UMLS:C1824180 ; oboInOwl:hasExactSynonym "C5AR1", "c5a anaphylatoxin receptor", "cd88 antigen", @@ -10377,7 +10593,9 @@ OMIM:113995 a owl:Class ; "complement component 5a receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728 ; - skos:exactMatch HGNC_symbol:C5AR1 ; + skos:exactMatch UMLS:C1824180, + HGNC:1338, + HGNC_symbol:C5AR1 ; biolink:category biolink:Gene . OMIM:114000 a owl:Class ; @@ -10401,11 +10619,11 @@ OMIM:114000 a owl:Class ; PMID:7023758, PMID:7824734, PMID:8588573 ; - oboInOwl:hasDbXref UMLS:C0020497, - ORPHA:1310 ; oboInOwl:hasExactSynonym "CAFYD", "caffey disease", "infantile cortical hyperostosis" ; + skos:exactMatch UMLS:C0020497, + ORPHA:1310 ; biolink:category biolink:Disease . OMIM:114010 a owl:Class ; @@ -10421,15 +10639,16 @@ OMIM:114010 a owl:Class ; PMID:8100805 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:616457 ; - oboInOwl:hasDbXref UMLS:C1413078, - UMLS:C4225320 ; oboInOwl:hasExactSynonym "CAD", "cad trifunctional protein", "carbamoyl phosphate synthetase/aspartate transcarbamylase/dihydroorotase", "cpsase/atcase/dhoase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:790 ; - skos:exactMatch HGNC_symbol:CAD ; + skos:exactMatch UMLS:C1413078, + UMLS:C4225320, + HGNC:1424, + HGNC_symbol:CAD ; biolink:category biolink:Gene . OMIM:114019 a owl:Class ; @@ -10441,7 +10660,6 @@ OMIM:114019 a owl:Class ; PMID:9615235 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:612580 ; - oboInOwl:hasDbXref UMLS:C1413272 ; oboInOwl:hasExactSynonym "CDH15", "cadherin 15", "cadherin, muscle", @@ -10451,7 +10669,9 @@ OMIM:114019 a owl:Class ; "m-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1013 ; - skos:exactMatch HGNC_symbol:CDH15 ; + skos:exactMatch UMLS:C1413272, + HGNC:1754, + HGNC_symbol:CDH15 ; biolink:category biolink:Gene . OMIM:114020 a owl:Class ; @@ -10476,9 +10696,6 @@ OMIM:114020 a owl:Class ; PMID:7959764 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:618920 ; - oboInOwl:hasDbXref UMLS:C1413277, - UMLS:C5394505, - UMLS:C5394523 ; oboInOwl:hasExactSynonym "CDH2", "cadherin 2", "cadherin, neuronal", @@ -10486,7 +10703,11 @@ OMIM:114020 a owl:Class ; "n-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1000 ; - skos:exactMatch HGNC_symbol:CDH2 ; + skos:exactMatch UMLS:C1413277, + UMLS:C5394505, + UMLS:C5394523, + HGNC:1759, + HGNC_symbol:CDH2 ; biolink:category biolink:Gene . OMIM:114021 a owl:Class ; @@ -10505,7 +10726,6 @@ OMIM:114021 a owl:Class ; PMID:9615235 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:601553 ; - oboInOwl:hasDbXref UMLS:C1337110 ; oboInOwl:hasExactSynonym "CDH3", "cadherin 3", "cadherin, placental", @@ -10514,7 +10734,9 @@ OMIM:114021 a owl:Class ; "p-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1001 ; - skos:exactMatch HGNC_symbol:CDH3 ; + skos:exactMatch UMLS:C1337110, + HGNC:1762, + HGNC_symbol:CDH3 ; biolink:category biolink:Gene . OMIM:114025 a owl:Class ; @@ -10528,14 +10750,15 @@ OMIM:114025 a owl:Class ; PMID:9060409 ; RO:0002525 CHR:9606chr2p12 ; RO:0003303 OMIM:618174 ; - oboInOwl:hasDbXref UMLS:C1413796 ; oboInOwl:hasExactSynonym "CTNNA2", "alpha-n-catenin", "cadherin-associated protein, related", "catenin, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1496 ; - skos:exactMatch HGNC_symbol:CTNNA2 ; + skos:exactMatch UMLS:C1413796, + HGNC:2510, + HGNC_symbol:CTNNA2 ; biolink:category biolink:Gene . OMIM:114030 a owl:Class ; @@ -10545,8 +10768,8 @@ OMIM:114030 a owl:Class ; PMID:8357027, PMID:8456833, PMID:8825931 ; - oboInOwl:hasDbXref UMLS:C1861975 ; - oboInOwl:hasExactSynonym "cafe-au-lait spots, multiple" . + oboInOwl:hasExactSynonym "cafe-au-lait spots, multiple" ; + skos:exactMatch UMLS:C1861975 . OMIM:114050 a owl:Class ; rdfs:label "CALB1" ; @@ -10557,14 +10780,15 @@ OMIM:114050 a owl:Class ; PMID:2902600, PMID:3691519, PMID:9933573 ; - oboInOwl:hasDbXref UMLS:C1413080 ; oboInOwl:hasExactSynonym "CALB1", "calb", "calbindin 1", "calbindin, 28-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:793 ; - skos:exactMatch HGNC_symbol:CALB1 ; + skos:exactMatch UMLS:C1413080, + HGNC:1434, + HGNC_symbol:CALB1 ; biolink:category biolink:Gene . OMIM:114051 a owl:Class ; @@ -10574,7 +10798,6 @@ OMIM:114051 a owl:Class ; PMID:2071140, PMID:21460837, PMID:2612220 ; - oboInOwl:hasDbXref UMLS:C1413081 ; oboInOwl:hasExactSynonym "CALB2", "calbindin 2", "calbindin d29k", @@ -10582,7 +10805,9 @@ OMIM:114051 a owl:Class ; "calretinin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:794 ; - skos:exactMatch HGNC_symbol:CALB2 ; + skos:exactMatch UMLS:C1413081, + HGNC:1435, + HGNC_symbol:CALB2 ; biolink:category biolink:Gene . OMIM:114065 a owl:Class ; @@ -10592,8 +10817,8 @@ OMIM:114065 a owl:Class ; PMID:4274182, PMID:468121, PMID:8213448 ; - oboInOwl:hasDbXref UMLS:C1861974 ; - oboInOwl:hasExactSynonym "calcific aortic disease with immunologic abnormalities, familial" . + oboInOwl:hasExactSynonym "calcific aortic disease with immunologic abnormalities, familial" ; + skos:exactMatch UMLS:C1861974 . OMIM:114070 a owl:Class ; rdfs:label "ANXA6" ; @@ -10602,7 +10827,6 @@ OMIM:114070 a owl:Class ; PMID:2963335, PMID:7698768, PMID:8146179 ; - oboInOwl:hasDbXref UMLS:C1412426 ; oboInOwl:hasExactSynonym "ANXA6", "annexin 6", "annexin a6", @@ -10610,7 +10834,9 @@ OMIM:114070 a owl:Class ; "calelectrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:309 ; - skos:exactMatch HGNC_symbol:ANXA6 ; + skos:exactMatch UMLS:C1412426, + HGNC:544, + HGNC_symbol:ANXA6 ; biolink:category biolink:Gene . OMIM:114078 a owl:Class ; @@ -10643,15 +10869,16 @@ OMIM:114078 a owl:Class ; PMID:9452388 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:617798 ; - oboInOwl:hasDbXref UMLS:C1413099, - UMLS:C4540481, - UMLS:C4748167 ; oboInOwl:hasExactSynonym "CAMK2A", "calcium/calmodulin-dependent protein kinase iia 2a", "calcium/calmodulin-dependent protein kinase ii-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:815 ; - skos:exactMatch HGNC_symbol:CAMK2A ; + skos:exactMatch UMLS:C1413099, + UMLS:C4540481, + UMLS:C4748167, + HGNC:1460, + HGNC_symbol:CAMK2A ; biolink:category biolink:Gene . OMIM:114080 a owl:Class ; @@ -10665,13 +10892,14 @@ OMIM:114080 a owl:Class ; PMID:22942433, PMID:2536634, PMID:30262571 ; - oboInOwl:hasDbXref UMLS:C1413103 ; oboInOwl:hasExactSynonym "CAMK4", "brain ca(2+)/calmodulin-dependent protein kinase iia 4", "calcium/calmodulin-dependent protein kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:814 ; - skos:exactMatch HGNC_symbol:CAMK4 ; + skos:exactMatch UMLS:C1413103, + HGNC:1464, + HGNC_symbol:CAMK4 ; biolink:category biolink:Gene . OMIM:114090 a owl:Class ; @@ -10687,12 +10915,13 @@ OMIM:114090 a owl:Class ; PMID:7638179 ; RO:0002525 CHR:9606chr5q15 ; RO:0003303 OMIM:616295 ; - oboInOwl:hasDbXref UMLS:C1413137 ; oboInOwl:hasExactSynonym "CAST", "calpastatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:831 ; - skos:exactMatch HGNC_symbol:CAST ; + skos:exactMatch UMLS:C1413137, + HGNC:1515, + HGNC_symbol:CAST ; biolink:category biolink:Gene . OMIM:114100 a owl:Class ; @@ -10710,11 +10939,11 @@ OMIM:114100 a owl:Class ; PMID:6876113, PMID:7405589, PMID:7977464 ; - oboInOwl:hasDbXref UMLS:C1861967 ; oboInOwl:hasExactSynonym "basal ganglia calcification, idiopathic, childhood-onset", "cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset", "ibgc, childhood-onset", "striopallidodentate calcinosis, bilateral, childhood-onset" ; + skos:exactMatch UMLS:C1861967 ; biolink:category biolink:Disease . OMIM:114105 a owl:Class ; @@ -10747,7 +10976,6 @@ OMIM:114105 a owl:Class ; PMID:9489698 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:617711 ; - oboInOwl:hasDbXref UMLS:C1418845 ; oboInOwl:hasExactSynonym "PPP3CA", "calcineurin a", "calcineurin a-alpha", @@ -10757,7 +10985,9 @@ OMIM:114105 a owl:Class ; "protein phosphatase 3, catalytic subunit, alpha isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5530 ; - skos:exactMatch HGNC_symbol:PPP3CA ; + skos:exactMatch UMLS:C1418845, + HGNC:9314, + HGNC_symbol:PPP3CA ; biolink:category biolink:Gene . OMIM:114106 a owl:Class ; @@ -10766,7 +10996,6 @@ OMIM:114106 a owl:Class ; PMID:1659808, PMID:21186368, PMID:8978785 ; - oboInOwl:hasDbXref UMLS:C1418846 ; oboInOwl:hasExactSynonym "PPP3CB", "calcineurin a-beta", "calcineurin a2", @@ -10776,7 +11005,9 @@ OMIM:114106 a owl:Class ; "protein phosphatase 3, catalytic subunit, beta isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5532 ; - skos:exactMatch HGNC_symbol:PPP3CB ; + skos:exactMatch UMLS:C1418846, + HGNC:9315, + HGNC_symbol:PPP3CB ; biolink:category biolink:Gene . OMIM:114107 a owl:Class ; @@ -10785,7 +11016,6 @@ OMIM:114107 a owl:Class ; PMID:12851458, PMID:1339277, PMID:26429887 ; - oboInOwl:hasDbXref UMLS:C1418847 ; oboInOwl:hasExactSynonym "PPP3CC", "calcineurin a-gamma", "calcineurin a3", @@ -10794,7 +11024,9 @@ OMIM:114107 a owl:Class ; "protein phosphatase 3, catalytic subunit, gamma isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5533 ; - skos:exactMatch HGNC_symbol:PPP3CC ; + skos:exactMatch UMLS:C1418847, + HGNC:9316, + HGNC_symbol:PPP3CC ; biolink:category biolink:Gene . OMIM:114110 a owl:Class ; @@ -10805,13 +11037,14 @@ OMIM:114110 a owl:Class ; PMID:3036810, PMID:7759097, PMID:9645951 ; - oboInOwl:hasDbXref UMLS:C1419788 ; oboInOwl:hasExactSynonym "S100A6", "calcyclin", "s100 calcium-binding protein a6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6277 ; - skos:exactMatch HGNC_symbol:S100A6 ; + skos:exactMatch UMLS:C1419788, + HGNC:10496, + HGNC_symbol:S100A6 ; biolink:category biolink:Gene . OMIM:114120 a owl:Class ; @@ -10858,7 +11091,6 @@ OMIM:114130 a owl:Class ; PMID:6952224, PMID:7715797, PMID:8468047 ; - oboInOwl:hasDbXref UMLS:C1367551 ; oboInOwl:hasExactSynonym "CALCA", "calcitonin", "calcitonin gene-related peptide", @@ -10866,7 +11098,9 @@ OMIM:114130 a owl:Class ; "katacalcin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:796 ; - skos:exactMatch HGNC_symbol:CALCA ; + skos:exactMatch UMLS:C1367551, + HGNC:1437, + HGNC_symbol:CALCA ; biolink:category biolink:Gene . OMIM:114131 a owl:Class ; @@ -10883,13 +11117,14 @@ OMIM:114131 a owl:Class ; PMID:9817931 ; RO:0002525 CHR:9606chr7q21.3 ; RO:0003303 OMIM:166710 ; - oboInOwl:hasDbXref UMLS:C1413085 ; oboInOwl:hasExactSynonym "CALCR", "calcitonin receptor", "ctr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:799 ; - skos:exactMatch HGNC_symbol:CALCR ; + skos:exactMatch UMLS:C1413085, + HGNC:1440, + HGNC_symbol:CALCR ; biolink:category biolink:Gene . OMIM:114140 a owl:Class ; @@ -10898,16 +11133,16 @@ OMIM:114140 a owl:Class ; PMID:443852, PMID:6237131, PMID:646376 ; - oboInOwl:hasDbXref UMLS:C1861964 ; oboInOwl:hasExactSynonym "callosities, hereditary painful", "callosities, painful plantar" ; + skos:exactMatch UMLS:C1861964 ; biolink:category biolink:Disease . OMIM:114150 a owl:Class ; rdfs:label "camptobrachydactyly" ; IAO:0000142 PMID:5031984 ; - oboInOwl:hasDbXref UMLS:C1861963 ; oboInOwl:hasExactSynonym "camptobrachydactyly" ; + skos:exactMatch UMLS:C1861963 ; biolink:category biolink:Disease . OMIM:114160 a owl:Class ; @@ -10916,13 +11151,14 @@ OMIM:114160 a owl:Class ; PMID:2991116, PMID:2994212, PMID:8468047 ; - oboInOwl:hasDbXref UMLS:C1413083 ; oboInOwl:hasExactSynonym "CALCB", "calcitonin gene-related peptide-2", "calcitonin-related polypeptide, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:797 ; - skos:exactMatch HGNC_symbol:CALCB ; + skos:exactMatch UMLS:C1413083, + HGNC:1438, + HGNC_symbol:CALCB ; biolink:category biolink:Gene . OMIM:114170 a owl:Class ; @@ -10933,7 +11169,6 @@ OMIM:114170 a owl:Class ; PMID:2994060, PMID:3016651, PMID:9228945 ; - oboInOwl:hasDbXref UMLS:C1413114 ; oboInOwl:hasExactSynonym "CAPNS1", "calcium-dependent protease, small subunit", "calpain 4", @@ -10941,7 +11176,9 @@ OMIM:114170 a owl:Class ; "canps" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:826 ; - skos:exactMatch HGNC_symbol:CAPNS1 ; + skos:exactMatch UMLS:C1413114, + HGNC:1481, + HGNC_symbol:CAPNS1 ; biolink:category biolink:Gene . OMIM:114181 a owl:Class ; @@ -10962,14 +11199,15 @@ OMIM:114182 a owl:Class ; PMID:9681195 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:616249 ; - oboInOwl:hasDbXref UMLS:C1413089, - UMLS:C4015695 ; oboInOwl:hasExactSynonym "CALM2", "calmodulin 2", "phkd2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:805 ; - skos:exactMatch HGNC_symbol:CALM2 ; + skos:exactMatch UMLS:C1413089, + UMLS:C4015695, + HGNC:1445, + HGNC_symbol:CALM2 ; biolink:category biolink:Gene . OMIM:114183 a owl:Class ; @@ -10983,15 +11221,16 @@ OMIM:114183 a owl:Class ; PMID:9681195 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:618782 ; - oboInOwl:hasDbXref UMLS:C1413093, - UMLS:C5394068, - UMLS:C5394069 ; oboInOwl:hasExactSynonym "CALM3", "calmodulin 3", "phkd3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:808 ; - skos:exactMatch HGNC_symbol:CALM3 ; + skos:exactMatch UMLS:C1413093, + UMLS:C5394068, + UMLS:C5394069, + HGNC:1449, + HGNC_symbol:CALM3 ; biolink:category biolink:Gene . OMIM:114184 a owl:Class ; @@ -11002,13 +11241,14 @@ OMIM:114184 a owl:Class ; PMID:3181418, PMID:8428750, PMID:9828009 ; - oboInOwl:hasDbXref UMLS:C1413095 ; oboInOwl:hasExactSynonym "CALML3", "calmodulin-like 3", "calmodulin-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:810 ; - skos:exactMatch HGNC_symbol:CALML3 ; + skos:exactMatch UMLS:C1413095, + HGNC:1452, + HGNC_symbol:CALML3 ; biolink:category biolink:Gene . OMIM:114190 a owl:Class ; @@ -11026,8 +11266,6 @@ OMIM:114190 a owl:Class ; PMID:9620797 ; RO:0002525 CHR:9606chr2q32.1 ; RO:0003303 OMIM:618773 ; - oboInOwl:hasDbXref UMLS:C1424497, - UMLS:C5231496 ; oboInOwl:hasExactSynonym "CALCRL", "calcitonin gene-related peptide receptor", "calcitonin receptor-like gene", @@ -11035,7 +11273,10 @@ OMIM:114190 a owl:Class ; "calcr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10203 ; - skos:exactMatch HGNC_symbol:CALCRL ; + skos:exactMatch UMLS:C1424497, + UMLS:C5231496, + HGNC:16709, + HGNC_symbol:CALCRL ; biolink:category biolink:Gene . OMIM:114204 a owl:Class ; @@ -11050,14 +11291,15 @@ OMIM:114204 a owl:Class ; PMID:25074461, PMID:7951247, PMID:8188232 ; - oboInOwl:hasDbXref UMLS:C1413065 ; oboInOwl:hasExactSynonym "CACNA2D1", "calcium channel, 50 type, alpha-2 polypeptide", "calcium channel, alpha-2/delta subunit", "calcium channel, voltage-dependent, alpha-2/delta subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:781 ; - skos:exactMatch HGNC_symbol:CACNA2D1 ; + skos:exactMatch UMLS:C1413065, + HGNC:1399, + HGNC_symbol:CACNA2D1 ; biolink:category biolink:Gene . OMIM:114205 a owl:Class ; @@ -11103,9 +11345,6 @@ OMIM:114205 a owl:Class ; PMID:9087614 ; RO:0002525 CHR:9606chr12p13.33 ; RO:0003303 OMIM:601005 ; - oboInOwl:hasDbXref UMLS:C1413057, - UMLS:C1832916, - UMLS:C2678478 ; oboInOwl:hasExactSynonym "CACNA1C", "cach2", "calcium channel, 50 type, alpha-1 polypeptide, isoform 1, cardiac muscle", @@ -11116,7 +11355,11 @@ OMIM:114205 a owl:Class ; "dhpr, alpha-1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:775 ; - skos:exactMatch HGNC_symbol:CACNA1C ; + skos:exactMatch UMLS:C1413057, + UMLS:C1832916, + UMLS:C2678478, + HGNC:1390, + HGNC_symbol:CACNA1C ; biolink:category biolink:Gene . OMIM:114206 a owl:Class ; @@ -11137,14 +11380,15 @@ OMIM:114206 a owl:Class ; PMID:23913004 ; RO:0002525 CHR:9606chr3p21.1 ; RO:0003303 OMIM:614896 ; - oboInOwl:hasDbXref UMLS:C1413058 ; oboInOwl:hasExactSynonym "CACNA1D", "calcium channel, 50 type, alpha-1 polypeptide, isoform 2", "calcium channel, neuroendocrine/brain-type, alpha-1 subunit", "calcium channel, voltage-dependent, 50 type, alpha-1d subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:776 ; - skos:exactMatch HGNC_symbol:CACNA1D ; + skos:exactMatch UMLS:C1413058, + HGNC:1391, + HGNC_symbol:CACNA1D ; biolink:category biolink:Gene . OMIM:114207 a owl:Class ; @@ -11153,7 +11397,6 @@ OMIM:114207 a owl:Class ; PMID:1657644, PMID:8395940, PMID:8943043 ; - oboInOwl:hasDbXref UMLS:C1413067 ; oboInOwl:hasExactSynonym "CACNB1", "calcium channel, 50 type, beta-1 polypeptide", "calcium channel, neuronal dihydropyridine-sensitive, beta subunit", @@ -11161,7 +11404,9 @@ OMIM:114207 a owl:Class ; "cchlb1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:782 ; - skos:exactMatch HGNC_symbol:CACNB1 ; + skos:exactMatch UMLS:C1413067, + HGNC:1401, + HGNC_symbol:CACNB1 ; biolink:category biolink:Gene . OMIM:114208 a owl:Class ; @@ -11198,7 +11443,6 @@ OMIM:114208 a owl:Class ; PMID:9199552 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:188580 ; - oboInOwl:hasDbXref UMLS:C1413064 ; oboInOwl:hasExactSynonym "CACNA1S", "calcium channel, 50 type, alpha-1 polypeptide, isoform 3, skeletal muscle", "calcium channel, skeletal muscle dihydropyridine-sensitive, alpha-1 subunit", @@ -11207,7 +11451,9 @@ OMIM:114208 a owl:Class ; "cchl1a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:779 ; - skos:exactMatch HGNC_symbol:CACNA1S ; + skos:exactMatch UMLS:C1413064, + HGNC:1397, + HGNC_symbol:CACNA1S ; biolink:category biolink:Gene . OMIM:114209 a owl:Class ; @@ -11215,14 +11461,15 @@ OMIM:114209 a owl:Class ; IAO:0000142 PMID:8387489, PMID:8395940, PMID:8404045 ; - oboInOwl:hasDbXref UMLS:C1413071 ; oboInOwl:hasExactSynonym "CACNG1", "calcium channel, 50 type, gamma polypeptide", "calcium channel, neuronal dihydropyridine-sensitive, gamma subunit", "calcium channel, voltage-dependent, gamma-1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:786 ; - skos:exactMatch HGNC_symbol:CACNG1 ; + skos:exactMatch UMLS:C1413071, + HGNC:1405, + HGNC_symbol:CACNG1 ; biolink:category biolink:Gene . OMIM:114210 a owl:Class ; @@ -11235,14 +11482,15 @@ OMIM:114210 a owl:Class ; PMID:7607566, PMID:7759097, PMID:9645951 ; - oboInOwl:hasDbXref UMLS:C1419786 ; oboInOwl:hasExactSynonym "S100A4", "calcium placental protein", "fibroblast-specific protein 1", "s100 calcium-binding protein a4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6275 ; - skos:exactMatch HGNC_symbol:S100A4 ; + skos:exactMatch UMLS:C1419786, + HGNC:10494, + HGNC_symbol:S100A4 ; biolink:category biolink:Gene . OMIM:114212 a owl:Class ; @@ -11250,25 +11498,27 @@ OMIM:114212 a owl:Class ; IAO:0000142 PMID:2265558, PMID:2540953, PMID:9224948 ; - oboInOwl:hasDbXref UMLS:C1413120 ; oboInOwl:hasExactSynonym "CAPS", "calcyphosine" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:828 ; - skos:exactMatch HGNC_symbol:CAPS ; + skos:exactMatch UMLS:C1413120, + HGNC:1487, + HGNC_symbol:CAPS ; biolink:category biolink:Gene . OMIM:114213 a owl:Class ; rdfs:label "CALD1" ; IAO:0000142 PMID:1465449, PMID:1555769 ; - oboInOwl:hasDbXref UMLS:C1413086 ; oboInOwl:hasExactSynonym "CALD1", "caldesmon 1", "cdm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:800 ; - skos:exactMatch HGNC_symbol:CALD1 ; + skos:exactMatch UMLS:C1413086, + HGNC:1441, + HGNC_symbol:CALD1 ; biolink:category biolink:Gene . OMIM:114217 a owl:Class ; @@ -11279,13 +11529,14 @@ OMIM:114217 a owl:Class ; PMID:18711132, PMID:20400506, PMID:8136357 ; - oboInOwl:hasDbXref UMLS:C1413107 ; oboInOwl:hasExactSynonym "CANX", "calnexin", "cnx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:821 ; - skos:exactMatch HGNC_symbol:CANX ; + skos:exactMatch UMLS:C1413107, + HGNC:1473, + HGNC_symbol:CANX ; biolink:category biolink:Gene . OMIM:114220 a owl:Class ; @@ -11299,7 +11550,6 @@ OMIM:114220 a owl:Class ; PMID:9562261 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:616907 ; - oboInOwl:hasDbXref UMLS:C1413109 ; oboInOwl:hasExactSynonym "CAPN1", "calcium-activated neutral protease 1, catalytic subunit", "calcium-activated neutral protease, mu, large subunit", @@ -11312,7 +11562,9 @@ OMIM:114220 a owl:Class ; "mu-capn, large subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:823 ; - skos:exactMatch HGNC_symbol:CAPN1 ; + skos:exactMatch UMLS:C1413109, + HGNC:1476, + HGNC_symbol:CAPN1 ; biolink:category biolink:Gene . OMIM:114230 a owl:Class ; @@ -11327,7 +11579,6 @@ OMIM:114230 a owl:Class ; PMID:23940116, PMID:2852952, PMID:9562261 ; - oboInOwl:hasDbXref UMLS:C1413112 ; oboInOwl:hasExactSynonym "CAPN2", "calcium-activated neutral protease 2, catalytic subunit", "calpain 2", @@ -11335,7 +11586,9 @@ OMIM:114230 a owl:Class ; "calpain, large polypeptide l2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:824 ; - skos:exactMatch HGNC_symbol:CAPN2 ; + skos:exactMatch UMLS:C1413112, + HGNC:1479, + HGNC_symbol:CAPN2 ; biolink:category biolink:Gene . OMIM:114240 a owl:Class ; @@ -11369,7 +11622,6 @@ OMIM:114240 a owl:Class ; PMID:9771675 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:253600 ; - oboInOwl:hasDbXref UMLS:C1413113 ; oboInOwl:hasExactSynonym "CAPN3", "calcium-activated neutral protease 3, muscle-specific, large subunit", "calpain 3", @@ -11378,7 +11630,9 @@ OMIM:114240 a owl:Class ; "p94" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:825 ; - skos:exactMatch HGNC_symbol:CAPN3 ; + skos:exactMatch UMLS:C1413113, + HGNC:1480, + HGNC_symbol:CAPN3 ; biolink:category biolink:Gene . OMIM:114250 a owl:Class ; @@ -11393,7 +11647,6 @@ OMIM:114250 a owl:Class ; PMID:8406504 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:616231 ; - oboInOwl:hasDbXref UMLS:C1413134 ; oboInOwl:hasExactSynonym "CASQ1", "calmitine", "calsequestrin 1", @@ -11402,7 +11655,9 @@ OMIM:114250 a owl:Class ; "casq" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:844 ; - skos:exactMatch HGNC_symbol:CASQ1 ; + skos:exactMatch UMLS:C1413134, + HGNC:1512, + HGNC_symbol:CASQ1 ; biolink:category biolink:Gene . OMIM:114251 a owl:Class ; @@ -11415,13 +11670,14 @@ OMIM:114251 a owl:Class ; PMID:8406504 ; RO:0002525 CHR:9606chr1p13.1 ; RO:0003303 OMIM:611938 ; - oboInOwl:hasDbXref UMLS:C1413135 ; oboInOwl:hasExactSynonym "CASQ2", "calsequestrin 2", "calsequestrin, fast-twitch, cardiac muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:845 ; - skos:exactMatch HGNC_symbol:CASQ2 ; + skos:exactMatch UMLS:C1413135, + HGNC:1513, + HGNC_symbol:CASQ2 ; biolink:category biolink:Gene . OMIM:114260 a owl:Class ; @@ -11432,12 +11688,13 @@ OMIM:114280 a owl:Class ; rdfs:label "CDW52" ; IAO:0000142 PMID:1711975, PMID:8418812 ; - oboInOwl:hasDbXref UMLS:C1539083 ; oboInOwl:hasExactSynonym "CDW52", "campath-1 antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1043 ; - skos:exactMatch HGNC_symbol:CD52 ; + skos:exactMatch UMLS:C1539083, + HGNC:1804, + HGNC_symbol:CD52 ; biolink:category biolink:Gene . OMIM:114300 a owl:Class ; @@ -11457,14 +11714,14 @@ OMIM:114300 a owl:Class ; PMID:8370149, PMID:8423615, PMID:8923935 ; - oboInOwl:hasDbXref UMLS:C0220666, - ORPHA:376 ; oboInOwl:hasExactSynonym "DA3", "arthrogryposis multiplex congenita, distal, iia 2a", "arthrogryposis, distal, iia 3", "camptodactyly, cleft palate, and clubfoot", "gordon syndrome" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C0220666, + ORPHA:376 ; biolink:category biolink:Disease . OMIM:114350 a owl:Class ; @@ -11482,9 +11739,6 @@ OMIM:114350 a owl:Class ; PMID:9049309 ; RO:0002525 CHR:9606chr9q34.13 ; RO:0003303 OMIM:618426 ; - oboInOwl:hasDbXref UMLS:C1334912, - UMLS:C1861917, - UMLS:C1861918 ; oboInOwl:hasExactSynonym "NUP214", "cain gene", "d9s46e", @@ -11493,7 +11747,11 @@ OMIM:114350 a owl:Class ; "nup214/dek fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8021 ; - skos:exactMatch HGNC_symbol:NUP214 ; + skos:exactMatch UMLS:C1334912, + UMLS:C1861917, + UMLS:C1861918, + HGNC:8064, + HGNC_symbol:NUP214 ; biolink:category biolink:Gene . OMIM:114400 a owl:Class ; @@ -11502,8 +11760,8 @@ OMIM:114400 a owl:Class ; OMIM:114600 a owl:Class ; rdfs:label "canine teeth, absence of upper permanent" ; - oboInOwl:hasDbXref UMLS:C1861899 ; oboInOwl:hasExactSynonym "canine teeth, absence of upper permanent" ; + skos:exactMatch UMLS:C1861899 ; biolink:category biolink:Disease . OMIM:114610 a owl:Class ; @@ -11534,35 +11792,36 @@ OMIM:114610 a owl:Class ; PMID:27851727, PMID:32641832, PMID:9888857 ; - oboInOwl:hasDbXref UMLS:C1413554 ; oboInOwl:hasExactSynonym "CNR1", "cannabinoid receptor 1", "cb1 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1268 ; - skos:exactMatch HGNC_symbol:CNR1 ; + skos:exactMatch UMLS:C1413554, + HGNC:2159, + HGNC_symbol:CNR1 ; biolink:category biolink:Gene . OMIM:114620 a owl:Class ; rdfs:label "craniofaciofrontodigital syndrome" ; IAO:0000142 PMID:7151302 ; - oboInOwl:hasDbXref UMLS:C2676032 ; oboInOwl:hasExactSynonym "cantu craniofaciofrontodigital syndrome", - "craniofaciofrontodigital syndrome" . + "craniofaciofrontodigital syndrome" ; + skos:exactMatch UMLS:C2676032 . OMIM:114650 a owl:Class ; rdfs:label "car factor deficiency" ; IAO:0000142 PMID:1096060, PMID:13471660 ; - oboInOwl:hasDbXref UMLS:C1861898 ; - oboInOwl:hasExactSynonym "car factor deficiency" . + oboInOwl:hasExactSynonym "car factor deficiency" ; + skos:exactMatch UMLS:C1861898 . OMIM:114700 a owl:Class ; rdfs:label "carabelli anomaly of maxillary molar teeth" ; IAO:0000142 PMID:14933364, PMID:5079106 ; - oboInOwl:hasDbXref UMLS:C1861897 ; - oboInOwl:hasExactSynonym "carabelli anomaly of maxillary molar teeth" . + oboInOwl:hasExactSynonym "carabelli anomaly of maxillary molar teeth" ; + skos:exactMatch UMLS:C1861897 . OMIM:114750 a owl:Class ; rdfs:label "CA3" ; @@ -11574,7 +11833,6 @@ OMIM:114750 a owl:Class ; PMID:3099285, PMID:3122635, PMID:3925781 ; - oboInOwl:hasDbXref UMLS:C1413044 ; oboInOwl:hasExactSynonym "CA3", "ca 3", "carbonic anhydrase 3", @@ -11582,7 +11840,9 @@ OMIM:114750 a owl:Class ; "carbonic anhydrase, muscle-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:761 ; - skos:exactMatch HGNC_symbol:CA3 ; + skos:exactMatch UMLS:C1413044, + HGNC:1374, + HGNC_symbol:CA3 ; biolink:category biolink:Gene . OMIM:114760 a owl:Class ; @@ -11606,13 +11866,14 @@ OMIM:114760 a owl:Class ; PMID:8325641, PMID:8675662, PMID:9385361 ; - oboInOwl:hasDbXref UMLS:C1413045 ; oboInOwl:hasExactSynonym "CA4", "ca 4", "carbonic anhydrase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:762 ; - skos:exactMatch HGNC_symbol:CA4 ; + skos:exactMatch UMLS:C1413045, + HGNC:1375, + HGNC_symbol:CA4 ; biolink:category biolink:Gene . OMIM:114761 a owl:Class ; @@ -11627,7 +11888,6 @@ OMIM:114761 a owl:Class ; PMID:9069129 ; RO:0002525 CHR:9606chr16q24.2 ; RO:0003303 OMIM:615751 ; - oboInOwl:hasDbXref UMLS:C1413046 ; oboInOwl:hasExactSynonym "CA5A", "ca 5", "ca 5a", @@ -11636,20 +11896,23 @@ OMIM:114761 a owl:Class ; "carbonic anhydrase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:763 ; - skos:exactMatch HGNC_symbol:CA5A ; + skos:exactMatch UMLS:C1413046, + HGNC:1377, + HGNC_symbol:CA5A ; biolink:category biolink:Gene . OMIM:114770 a owl:Class ; rdfs:label "CA7" ; IAO:0000142 PMID:1783392, PMID:3110098 ; - oboInOwl:hasDbXref UMLS:C1413050 ; oboInOwl:hasExactSynonym "CA7", "ca 7", "carbonic anhydrase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:766 ; - skos:exactMatch HGNC_symbol:CA7 ; + skos:exactMatch UMLS:C1413050, + HGNC:1381, + HGNC_symbol:CA7 ; biolink:category biolink:Gene . OMIM:114780 a owl:Class ; @@ -11660,7 +11923,6 @@ OMIM:114780 a owl:Class ; PMID:2505973, PMID:9691177, PMID:9784398 ; - oboInOwl:hasDbXref UMLS:C1413049 ; oboInOwl:hasExactSynonym "CA6", "ca 6", "carbonic anhydrase 6", @@ -11668,7 +11930,9 @@ OMIM:114780 a owl:Class ; "gustin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:765 ; - skos:exactMatch HGNC_symbol:CA6 ; + skos:exactMatch UMLS:C1413049, + HGNC:1380, + HGNC_symbol:CA6 ; biolink:category biolink:Gene . OMIM:114800 a owl:Class ; @@ -11701,7 +11965,6 @@ OMIM:114800 a owl:Class ; PMID:825106, PMID:827930, PMID:8673298 ; - oboInOwl:hasDbXref UMLS:C1413038 ; oboInOwl:hasExactSynonym "CA1", "ca 1", "carbonic anhydrase 1", @@ -11709,7 +11972,9 @@ OMIM:114800 a owl:Class ; "carbonic anhydrase b, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:759 ; - skos:exactMatch HGNC_symbol:CA1 ; + skos:exactMatch UMLS:C1413038, + HGNC:1368, + HGNC_symbol:CA1 ; biolink:category biolink:Gene . OMIM:114815 a owl:Class ; @@ -11726,7 +11991,6 @@ OMIM:114815 a owl:Class ; PMID:8977131 ; RO:0002525 CHR:9606chr8q12.1 ; RO:0003303 OMIM:613227 ; - oboInOwl:hasDbXref UMLS:C1413051 ; oboInOwl:hasExactSynonym "CA8", "ca 8", "carbonic anhydrase 8", @@ -11734,7 +11998,9 @@ OMIM:114815 a owl:Class ; "carbonic anhydrase-related polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:767 ; - skos:exactMatch HGNC_symbol:CA8 ; + skos:exactMatch UMLS:C1413051, + HGNC:1382, + HGNC_symbol:CA8 ; biolink:category biolink:Gene . OMIM:114830 a owl:Class ; @@ -11745,13 +12011,14 @@ OMIM:114830 a owl:Class ; PMID:8432528, PMID:8661038, PMID:9740676 ; - oboInOwl:hasDbXref UMLS:C1413154 ; oboInOwl:hasExactSynonym "CBR1", "carbonyl reductase", "carbonyl reductase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:873 ; - skos:exactMatch HGNC_symbol:CBR1 ; + skos:exactMatch UMLS:C1413154, + HGNC:1548, + HGNC_symbol:CBR1 ; biolink:category biolink:Gene . OMIM:114836 a owl:Class ; @@ -11770,34 +12037,35 @@ OMIM:114850 a owl:Class ; PMID:30045879, PMID:3455919, PMID:7570003 ; - oboInOwl:hasDbXref UMLS:C1413662 ; oboInOwl:hasExactSynonym "CPA1", "carboxypeptidase a1", "cpa", "procarboxypeptidase a1, pancreatic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1357 ; - skos:exactMatch HGNC_symbol:CPA1 ; + skos:exactMatch UMLS:C1413662, + HGNC:2296, + HGNC_symbol:CPA1 ; biolink:category biolink:Gene . OMIM:114851 a owl:Class ; rdfs:label "CPA3" ; IAO:0000142 PMID:1729276, PMID:2594780 ; - oboInOwl:hasDbXref UMLS:C1413664 ; oboInOwl:hasExactSynonym "CPA3", "carboxypeptidase a3, mast cell", "mc-cpa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1359 ; - skos:exactMatch HGNC_symbol:CPA3 ; + skos:exactMatch UMLS:C1413664, + HGNC:2298, + HGNC_symbol:CPA3 ; biolink:category biolink:Gene . OMIM:114852 a owl:Class ; rdfs:label "CPB1" ; IAO:0000142 PMID:1370825, PMID:2459692 ; - oboInOwl:hasDbXref UMLS:C1413665 ; oboInOwl:hasExactSynonym "CPB1", "carboxypeptidase b, pancreatic", "carboxypeptidase b1, tissue", @@ -11805,7 +12073,9 @@ OMIM:114852 a owl:Class ; "procarboxypeptidase b, pancreatic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1360 ; - skos:exactMatch HGNC_symbol:CPB1 ; + skos:exactMatch UMLS:C1413665, + HGNC:2299, + HGNC_symbol:CPB1 ; biolink:category biolink:Gene . OMIM:114855 a owl:Class ; @@ -11820,13 +12090,14 @@ OMIM:114855 a owl:Class ; PMID:9019408 ; RO:0002525 CHR:9606chr4q32.3 ; RO:0003303 OMIM:619326 ; - oboInOwl:hasDbXref UMLS:C1413668 ; oboInOwl:hasExactSynonym "CPE", "carboxypeptidase e", "carboxypeptidase h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1363 ; - skos:exactMatch HGNC_symbol:CPE ; + skos:exactMatch UMLS:C1413668, + HGNC:2303, + HGNC_symbol:CPE ; biolink:category biolink:Gene . OMIM:114860 a owl:Class ; @@ -11834,12 +12105,13 @@ OMIM:114860 a owl:Class ; IAO:0000142 PMID:2753907, PMID:7797563, PMID:8586455 ; - oboInOwl:hasDbXref UMLS:C1413672 ; oboInOwl:hasExactSynonym "CPM", "carboxypeptidase m" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1368 ; - skos:exactMatch HGNC_symbol:CPM ; + skos:exactMatch UMLS:C1413672, + HGNC:2311, + HGNC_symbol:CPM ; biolink:category biolink:Gene . OMIM:114890 a owl:Class ; @@ -11863,14 +12135,15 @@ OMIM:114890 a owl:Class ; PMID:3814146, PMID:6896821, PMID:8837750 ; - oboInOwl:hasDbXref UMLS:C1332744 ; oboInOwl:hasExactSynonym "CEACAM5", "carcinoembryonic antigen", "carcinoembryonic antigen-related cell adhesion molecule 5", "cea cell adhesion molecule 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1048 ; - skos:exactMatch HGNC_symbol:CEACAM5 ; + skos:exactMatch UMLS:C1332744, + HGNC:1817, + HGNC_symbol:CEACAM5 ; biolink:category biolink:Gene . OMIM:114900 a owl:Class ; @@ -11879,8 +12152,8 @@ OMIM:114900 a owl:Class ; PMID:4694894, PMID:5936207, PMID:9361035 ; - oboInOwl:hasDbXref UMLS:C0349535 ; oboInOwl:hasExactSynonym "carcinoid tumors, intestinal" ; + skos:exactMatch UMLS:C0349535 ; biolink:category biolink:Disease . OMIM:115000 a owl:Class ; @@ -11888,10 +12161,10 @@ OMIM:115000 a owl:Class ; IAO:0000142 PMID:14115011, PMID:4129426, PMID:5016833 ; - oboInOwl:hasDbXref UMLS:C0003811 ; oboInOwl:hasExactSynonym "VACRDS", "ryr2 calcium release deficiency syndrome", "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" ; + skos:exactMatch UMLS:C0003811 ; biolink:category biolink:Disease . OMIM:115080 a owl:Class ; @@ -11907,12 +12180,12 @@ OMIM:115080 a owl:Class ; PMID:6617684, PMID:7249291, PMID:7631614 ; - oboInOwl:hasDbXref UMLS:C0085298, - UMLS:C0264886, - UMLS:C1861884 ; oboInOwl:hasExactSynonym "cardiac conduction defect", "familial sudden death", - "sudden cardiac death" . + "sudden cardiac death" ; + skos:exactMatch UMLS:C0085298, + UMLS:C0264886, + UMLS:C1861884 . OMIM:115150 a owl:Class ; rdfs:label "cardiofaciocutaneous syndrome 1" ; @@ -11967,13 +12240,13 @@ OMIM:115150 a owl:Class ; PMID:9147900, PMID:9272711, PMID:9781012 ; - oboInOwl:hasDbXref UMLS:C1275081, - ORPHA:1340 ; oboInOwl:hasExactSynonym "CFC1", "cardiofaciocutaneous syndrome 1", "cfc syndrome", "cfcs" ; rdfs:subClassOf OMIMPS:115150 ; + skos:exactMatch UMLS:C1275081, + ORPHA:1340 ; biolink:category biolink:Disease . OMIM:115195 a owl:Class ; @@ -11983,10 +12256,10 @@ OMIM:115195 a owl:Class ; PMID:7981753, PMID:8205619, PMID:9714088 ; - oboInOwl:hasDbXref UMLS:C1861864 ; oboInOwl:hasExactSynonym "CMH2", "cardiomyopathy, familial hypertrophic, 2" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C1861864 ; biolink:category biolink:Disease . OMIM:115196 a owl:Class ; @@ -11999,10 +12272,10 @@ OMIM:115196 a owl:Class ; PMID:8327508, PMID:8406508, PMID:9060904 ; - oboInOwl:hasDbXref UMLS:C1861863 ; oboInOwl:hasExactSynonym "CMH3", "cardiomyopathy, familial hypertrophic, 3" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C1861863 ; biolink:category biolink:Disease . OMIM:115198 a owl:Class ; @@ -12021,11 +12294,11 @@ OMIM:115210 a owl:Class ; PMID:8043339, PMID:8371486, PMID:8995091 ; - oboInOwl:hasDbXref UMLS:C1861861 ; oboInOwl:hasExactSynonym "RCM1", "cardiomyopathy, familial restrictive, 1", "rcm" ; rdfs:subClassOf OMIMPS:115210 ; + skos:exactMatch UMLS:C1861861 ; biolink:category biolink:Disease . OMIM:115250 a owl:Class ; @@ -12033,14 +12306,14 @@ OMIM:115250 a owl:Class ; IAO:0000142 PMID:17223882, PMID:486326, PMID:5657391 ; - oboInOwl:hasDbXref UMLS:C0406817 ; - oboInOwl:hasExactSynonym "collagenoma, familial cutaneous" . + oboInOwl:hasExactSynonym "collagenoma, familial cutaneous" ; + skos:exactMatch UMLS:C0406817 . OMIM:115400 a owl:Class ; rdfs:label "carpal displacement" ; - oboInOwl:hasDbXref UMLS:C1861847 ; oboInOwl:hasExactSynonym "carpal bossing", - "carpal displacement" . + "carpal displacement" ; + skos:exactMatch UMLS:C1861847 . OMIM:115430 a owl:Class ; rdfs:label "carpal tunnel syndrome" ; @@ -12064,12 +12337,12 @@ OMIM:115430 a owl:Class ; PMID:9771681, PMID:9831348, PMID:9973284 ; - oboInOwl:hasDbXref UMLS:C0007286 ; oboInOwl:hasExactSynonym "CTS1", "amyotrophy, thenar, of carpal origin", "carpal tunnel syndrome", "cts" ; rdfs:subClassOf OMIMPS:115430 ; + skos:exactMatch UMLS:C0007286 ; biolink:category biolink:Disease . OMIM:115435 a owl:Class ; @@ -12078,13 +12351,14 @@ OMIM:115435 a owl:Class ; PMID:7945259, PMID:7989046, PMID:9988279 ; - oboInOwl:hasDbXref UMLS:C1413721 ; oboInOwl:hasExactSynonym "HAPLN1", "cartilage link protein", "hyaluronan and proteoglycan link protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1404 ; - skos:exactMatch HGNC_symbol:HAPLN1 ; + skos:exactMatch UMLS:C1413721, + HGNC:2380, + HGNC_symbol:HAPLN1 ; biolink:category biolink:Gene . OMIM:115437 a owl:Class ; @@ -12098,13 +12372,14 @@ OMIM:115437 a owl:Class ; PMID:9002018, PMID:9083061, PMID:9287130 ; - oboInOwl:hasDbXref UMLS:C1417041 ; oboInOwl:hasExactSynonym "MATN1", "cartilage matrix protein", "matrilin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4146 ; - skos:exactMatch HGNC_symbol:MATN1 ; + skos:exactMatch UMLS:C1417041, + HGNC:6907, + HGNC_symbol:MATN1 ; biolink:category biolink:Gene . OMIM:115440 a owl:Class ; @@ -12126,13 +12401,14 @@ OMIM:115440 a owl:Class ; PMID:8188256 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:617062 ; - oboInOwl:hasDbXref UMLS:C1332796 ; oboInOwl:hasExactSynonym "CSNK2A1", "casein kinase ii, alpha subunit", "casein kinase ii, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1457 ; - skos:exactMatch HGNC_symbol:CSNK2A1 ; + skos:exactMatch UMLS:C1332796, + HGNC:2457, + HGNC_symbol:CSNK2A1 ; biolink:category biolink:Gene . OMIM:115441 a owl:Class ; @@ -12156,15 +12432,16 @@ OMIM:115441 a owl:Class ; PMID:8812450 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:618732 ; - oboInOwl:hasDbXref UMLS:C1413762, - UMLS:C5231482 ; oboInOwl:hasExactSynonym "CSNK2B", "casein kinase ii, beta", "casein kinase ii, beta subunit", "phosvitin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1460 ; - skos:exactMatch HGNC_symbol:CSNK2B ; + skos:exactMatch UMLS:C1413762, + UMLS:C5231482, + HGNC:2460, + HGNC_symbol:CSNK2B ; biolink:category biolink:Gene . OMIM:115442 a owl:Class ; @@ -12177,13 +12454,14 @@ OMIM:115442 a owl:Class ; PMID:18311148, PMID:2174700, PMID:8188223 ; - oboInOwl:hasDbXref UMLS:C1413761 ; oboInOwl:hasExactSynonym "CSNK2A2", "casein kinase ii, alpha-2", "casein kinase ii, alpha-prime subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1459 ; - skos:exactMatch HGNC_symbol:CSNK2A2 ; + skos:exactMatch UMLS:C1413761, + HGNC:2459, + HGNC_symbol:CSNK2A2 ; biolink:category biolink:Gene . OMIM:115450 a owl:Class ; @@ -12192,14 +12470,15 @@ OMIM:115450 a owl:Class ; PMID:7698025, PMID:9050925, PMID:9096114 ; - oboInOwl:hasDbXref UMLS:C1384511 ; oboInOwl:hasExactSynonym "CSN1", "casa", "casein, alpha", "casein, alpha-s1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1446 ; - skos:exactMatch HGNC_symbol:CSN1S1 ; + skos:exactMatch UMLS:C1384511, + HGNC:2445, + HGNC_symbol:CSN1S1 ; biolink:category biolink:Gene . OMIM:115460 a owl:Class ; @@ -12215,13 +12494,14 @@ OMIM:115460 a owl:Class ; PMID:8565637, PMID:9050925, PMID:9096114 ; - oboInOwl:hasDbXref UMLS:C1384512 ; oboInOwl:hasExactSynonym "CSN2", "casb", "casein, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1447 ; - skos:exactMatch HGNC_symbol:CSN2 ; + skos:exactMatch UMLS:C1384512, + HGNC:2447, + HGNC_symbol:CSN2 ; biolink:category biolink:Gene . OMIM:115470 a owl:Class ; @@ -12270,12 +12550,12 @@ OMIM:115470 a owl:Class ; PMID:9730608, PMID:9931328 ; RO:0002525 CHR:9606chr22q11 ; - oboInOwl:hasDbXref UMLS:C0265493 ; oboInOwl:hasExactSynonym "CES", "cat eye syndrome", "chromosome 22 partial tetrasomy", "inv dup(22)(q11)", "schmid-fraccaro syndrome" ; + skos:exactMatch UMLS:C0265493 ; biolink:category biolink:Disease . OMIM:115500 a owl:Class ; @@ -12309,12 +12589,13 @@ OMIM:115500 a owl:Class ; PMID:8673475 ; RO:0002525 CHR:9606chr11p13 ; RO:0003303 OMIM:614097 ; - oboInOwl:hasDbXref UMLS:C1413138 ; oboInOwl:hasExactSynonym "CAT", "catalase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:847 ; - skos:exactMatch HGNC_symbol:CAT ; + skos:exactMatch UMLS:C1413138, + HGNC:1516, + HGNC_symbol:CAT ; biolink:category biolink:Gene . OMIM:115501 a owl:Class ; @@ -12342,7 +12623,6 @@ OMIM:115501 a owl:Class ; PMID:9434945 ; RO:0002525 CHR:9606chr9p23 ; RO:0003303 OMIM:612271 ; - oboInOwl:hasDbXref UMLS:C1336694 ; oboInOwl:hasExactSynonym "TYRP1", "b-protein", "catalase B", @@ -12351,14 +12631,16 @@ OMIM:115501 a owl:Class ; "tyrp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7306 ; - skos:exactMatch HGNC_symbol:TYRP1 ; + skos:exactMatch UMLS:C1336694, + HGNC:12450, + HGNC_symbol:TYRP1 ; biolink:category biolink:Gene . OMIM:115645 a owl:Class ; rdfs:label "cataract, aberrant oral frenula, and growth retardation" ; IAO:0000142 PMID:1951441 ; - oboInOwl:hasDbXref UMLS:C1861835 ; - oboInOwl:hasExactSynonym "cataract, aberrant oral frenula, and growth retardation" . + oboInOwl:hasExactSynonym "cataract, aberrant oral frenula, and growth retardation" ; + skos:exactMatch UMLS:C1861835 . OMIM:116150 a owl:Class ; oboInOwl:consider OMIM:107250, @@ -12369,11 +12651,11 @@ OMIM:116400 a owl:Class ; rdfs:label "cataract 41" ; IAO:0000142 PMID:23531866, PMID:3662912 ; - oboInOwl:hasDbXref UMLS:C3805412 ; oboInOwl:hasExactSynonym "CTRCT41", "cataract 41", "cataract 41, congenital nuclear iia" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3805412 ; biolink:category biolink:Disease . OMIM:116700 a owl:Class ; @@ -12386,10 +12668,10 @@ OMIM:116700 a owl:Class ; PMID:432928, PMID:6710968, PMID:6858080 ; - oboInOwl:hasDbXref UMLS:C3805373 ; oboInOwl:hasExactSynonym "CTRCT13", "cataract 13 with adult i phenotype" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3805373 ; biolink:category biolink:Disease . OMIM:116790 a owl:Class ; @@ -12463,14 +12745,15 @@ OMIM:116790 a owl:Class ; PMID:9707588 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1135159, - UMLS:C1861822 ; oboInOwl:hasExactSynonym "COMT", "catechol-o-methyltransferase", "catechol-o-methyltransferase activity, low, 1n red cells" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1312 ; - skos:exactMatch HGNC_symbol:COMT ; + skos:exactMatch UMLS:C1135159, + UMLS:C1861822, + HGNC:2228, + HGNC_symbol:COMT ; biolink:category biolink:Gene . OMIM:116805 a owl:Class ; @@ -12496,14 +12779,15 @@ OMIM:116805 a owl:Class ; PMID:8404069 ; RO:0002525 CHR:9606chr5q31.2 ; RO:0003303 OMIM:608970 ; - oboInOwl:hasDbXref UMLS:C1413795 ; oboInOwl:hasExactSynonym "CTNNA1", "alpha-e-catenin", "cadherin-associated protein", "catenin, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1495 ; - skos:exactMatch HGNC_symbol:CTNNA1 ; + skos:exactMatch UMLS:C1413795, + HGNC:2509, + HGNC_symbol:CTNNA1 ; biolink:category biolink:Gene . OMIM:116806 a owl:Class ; @@ -12618,13 +12902,14 @@ OMIM:116806 a owl:Class ; PMID:9927029 ; RO:0002525 CHR:9606chr3p22.1 ; RO:0003303 OMIM:132600 ; - oboInOwl:hasDbXref UMLS:C1332803 ; oboInOwl:hasExactSynonym "CTNNB1", "cadherin-associated protein, beta", "catenin, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1499 ; - skos:exactMatch HGNC_symbol:CTNNB1 ; + skos:exactMatch UMLS:C1332803, + HGNC:2514, + HGNC_symbol:CTNNB1 ; biolink:category biolink:Gene . OMIM:116810 a owl:Class ; @@ -12648,8 +12933,6 @@ OMIM:116810 a owl:Class ; PMID:9770500 ; RO:0002525 CHR:9606chr8p23.1 ; RO:0003303 OMIM:148370 ; - oboInOwl:hasDbXref UMLS:C1332804, - UMLS:C4749141 ; oboInOwl:hasExactSynonym "CTSB", "amyloid precursor protein secretase", "app secretase", @@ -12658,7 +12941,10 @@ OMIM:116810 a owl:Class ; "regulatory element, cis-acting, enhancer, upstream of ctsb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1508 ; - skos:exactMatch HGNC_symbol:CTSB ; + skos:exactMatch UMLS:C1332804, + UMLS:C4749141, + HGNC:2527, + HGNC_symbol:CTSB ; biolink:category biolink:Gene . OMIM:116820 a owl:Class ; @@ -12667,12 +12953,13 @@ OMIM:116820 a owl:Class ; PMID:2587265, PMID:2849458, PMID:9096102 ; - oboInOwl:hasDbXref UMLS:C1332806 ; oboInOwl:hasExactSynonym "CTSH", "cathepsin h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1512 ; - skos:exactMatch HGNC_symbol:CTSH ; + skos:exactMatch UMLS:C1332806, + HGNC:2535, + HGNC_symbol:CTSH ; biolink:category biolink:Gene . OMIM:116830 a owl:Class ; @@ -12689,27 +12976,29 @@ OMIM:116830 a owl:Class ; PMID:8453108, PMID:8515885, PMID:9585238 ; - oboInOwl:hasDbXref UMLS:C1413814 ; oboInOwl:hasExactSynonym "CTSG", "catg", "cathepsin g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1511 ; - skos:exactMatch HGNC_symbol:CTSG ; + skos:exactMatch UMLS:C1413814, + HGNC:2532, + HGNC_symbol:CTSG ; biolink:category biolink:Gene . OMIM:116831 a owl:Class ; rdfs:label "GZMH" ; IAO:0000142 PMID:2300587, PMID:2307468 ; - oboInOwl:hasDbXref UMLS:C1415381 ; oboInOwl:hasExactSynonym "GZMH", "cathepsin g-like 2", "cytotoxic serine protease c", "granzyme h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2999 ; - skos:exactMatch HGNC_symbol:GZMH ; + skos:exactMatch UMLS:C1415381, + HGNC:4710, + HGNC_symbol:GZMH ; biolink:category biolink:Gene . OMIM:116840 a owl:Class ; @@ -12724,12 +13013,13 @@ OMIM:116840 a owl:Class ; PMID:3927292 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:610127 ; - oboInOwl:hasDbXref UMLS:C1332805 ; oboInOwl:hasExactSynonym "CTSD", "cathepsin d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1509 ; - skos:exactMatch HGNC_symbol:CTSD ; + skos:exactMatch UMLS:C1332805, + HGNC:2529, + HGNC_symbol:CTSD ; biolink:category biolink:Gene . OMIM:116845 a owl:Class ; @@ -12741,25 +13031,26 @@ OMIM:116845 a owl:Class ; PMID:8157683, PMID:9096102, PMID:9143502 ; - oboInOwl:hasDbXref UMLS:C1413821 ; oboInOwl:hasExactSynonym "CTSS", "cathepsin s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1520 ; - skos:exactMatch HGNC_symbol:CTSS ; + skos:exactMatch UMLS:C1413821, + HGNC:2545, + HGNC_symbol:CTSS ; biolink:category biolink:Gene . OMIM:116850 a owl:Class ; rdfs:label "catatrichy" ; - oboInOwl:hasDbXref UMLS:C1861799 ; oboInOwl:hasExactSynonym "catatrichy", - "forelock" . + "forelock" ; + skos:exactMatch UMLS:C1861799 . OMIM:116870 a owl:Class ; rdfs:label "celiac artery stenosis from compression by median arcuate ligament of diaphragm" ; IAO:0000142 PMID:4643876 ; - oboInOwl:hasDbXref UMLS:C1861783 ; - oboInOwl:hasExactSynonym "celiac artery stenosis from compression by median arcuate ligament of diaphragm" . + oboInOwl:hasExactSynonym "celiac artery stenosis from compression by median arcuate ligament of diaphragm" ; + skos:exactMatch UMLS:C1861783 . OMIM:116880 a owl:Class ; rdfs:label "CTSL" ; @@ -12779,14 +13070,15 @@ OMIM:116880 a owl:Class ; PMID:3545185, PMID:7774911, PMID:8419312 ; - oboInOwl:hasDbXref UMLS:C1332807 ; oboInOwl:hasExactSynonym "CTSL", "cathepsin 50", "catl", "major excreted protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1514 ; - skos:exactMatch HGNC_symbol:CTSL ; + skos:exactMatch UMLS:C1332807, + HGNC:2537, + HGNC_symbol:CTSL ; biolink:category biolink:Gene . OMIM:116890 a owl:Class ; @@ -12795,13 +13087,14 @@ OMIM:116890 a owl:Class ; PMID:17095504, PMID:2369841, PMID:2674141 ; - oboInOwl:hasDbXref UMLS:C1413812 ; oboInOwl:hasExactSynonym "CTSE", "cate", "cathepsin e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1510 ; - skos:exactMatch HGNC_symbol:CTSE ; + skos:exactMatch UMLS:C1413812, + HGNC:2530, + HGNC_symbol:CTSE ; biolink:category biolink:Gene . OMIM:116896 a owl:Class ; @@ -12819,8 +13112,6 @@ OMIM:116896 a owl:Class ; PMID:9332351 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:618330 ; - oboInOwl:hasDbXref UMLS:C1413827, - UMLS:C5193003 ; oboInOwl:hasExactSynonym "CUX1", "ccaat displacement protein", "cdp/cut alternatively spliced product", @@ -12831,7 +13122,10 @@ OMIM:116896 a owl:Class ; "human accelerated region 426" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1523 ; - skos:exactMatch HGNC_symbol:CUX1 ; + skos:exactMatch UMLS:C1413827, + UMLS:C5193003, + HGNC:2557, + HGNC_symbol:CUX1 ; biolink:category biolink:Gene . OMIM:116897 a owl:Class ; @@ -12863,14 +13157,15 @@ OMIM:116897 a owl:Class ; PMID:9191024 ; RO:0002525 CHR:9606chr19q13.11 ; RO:0003303 OMIM:601626 ; - oboInOwl:hasDbXref UMLS:C1413322 ; oboInOwl:hasExactSynonym "CEBPA", "c/ebp-alpha", "ccaat/enhancer-binding protein, alpha", "cebp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1050 ; - skos:exactMatch HGNC_symbol:CEBPA ; + skos:exactMatch UMLS:C1413322, + HGNC:1833, + HGNC_symbol:CEBPA ; biolink:category biolink:Gene . OMIM:116898 a owl:Class ; @@ -12883,14 +13178,15 @@ OMIM:116898 a owl:Class ; PMID:7855601, PMID:8314590, PMID:8530045 ; - oboInOwl:hasDbXref UMLS:C1413324 ; oboInOwl:hasExactSynonym "CEBPD", "c/ebp-delta", "ccaat/enhancer-binding protein, delta", "crp3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1052 ; - skos:exactMatch HGNC_symbol:CEBPD ; + skos:exactMatch UMLS:C1413324, + HGNC:1835, + HGNC_symbol:CEBPD ; biolink:category biolink:Gene . OMIM:116899 a owl:Class ; @@ -12933,8 +13229,6 @@ OMIM:116899 a owl:Class ; PMID:9660939, PMID:9822382, PMID:9844631 ; - oboInOwl:hasDbXref UMLS:C0249197, - UMLS:C4015938 ; oboInOwl:hasExactSynonym "CDKN1A", "cdk-interacting protein 1", "cdkn1", @@ -12943,7 +13237,10 @@ OMIM:116899 a owl:Class ; "wildtype p53-activated fragment 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1026 ; - skos:exactMatch HGNC_symbol:CDKN1A ; + skos:exactMatch UMLS:C0249197, + UMLS:C4015938, + HGNC:1784, + HGNC_symbol:CDKN1A ; biolink:category biolink:Gene . OMIM:116900 a owl:Class ; @@ -12954,13 +13251,14 @@ OMIM:116900 a owl:Class ; PMID:2227411, PMID:8601310, PMID:8697818 ; - oboInOwl:hasDbXref UMLS:C1425999 ; oboInOwl:hasExactSynonym "CKS1B", "cdc2-associated protein cks1", "cdc28 protein kinase 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1163 ; - skos:exactMatch HGNC_symbol:CKS1B ; + skos:exactMatch UMLS:C1425999, + HGNC:19083, + HGNC_symbol:CKS1B ; biolink:category biolink:Gene . OMIM:116901 a owl:Class ; @@ -12968,12 +13266,13 @@ OMIM:116901 a owl:Class ; IAO:0000142 PMID:12714746, PMID:2227411, PMID:8697818 ; - oboInOwl:hasDbXref UMLS:C1413440 ; oboInOwl:hasExactSynonym "CKS2", "cdc2-associated protein cks2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1164 ; - skos:exactMatch HGNC_symbol:CKS2 ; + skos:exactMatch UMLS:C1413440, + HGNC:2000, + HGNC_symbol:CKS2 ; biolink:category biolink:Gene . OMIM:116935 a owl:Class ; @@ -13007,7 +13306,6 @@ OMIM:116940 a owl:Class ; PMID:3553962, PMID:9001210, PMID:9844631 ; - oboInOwl:hasDbXref UMLS:C1332721 ; oboInOwl:hasExactSynonym "CDK1", "cell cycle controller cdc2", "cell division cycle 2, g1 to s and g2 to m", @@ -13015,7 +13313,9 @@ OMIM:116940 a owl:Class ; "p34(cdc2)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:983 ; - skos:exactMatch HGNC_symbol:CDK1 ; + skos:exactMatch UMLS:C1332721, + HGNC:1722, + HGNC_symbol:CDK1 ; biolink:category biolink:Gene . OMIM:116945 a owl:Class ; @@ -13036,8 +13336,6 @@ OMIM:116945 a owl:Class ; PMID:9223437 ; RO:0002525 CHR:9606chr3q21.3 ; RO:0003303 OMIM:616968 ; - oboInOwl:hasDbXref UMLS:C1334489, - UMLS:C4310775 ; oboInOwl:hasExactSynonym "MCM2", "cell division cycle-like 1", "minichromosome maintenance complex component 2", @@ -13046,7 +13344,10 @@ OMIM:116945 a owl:Class ; "nuclear protein bm28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4171 ; - skos:exactMatch HGNC_symbol:MCM2 ; + skos:exactMatch UMLS:C1334489, + UMLS:C4310775, + HGNC:6944, + HGNC_symbol:MCM2 ; biolink:category biolink:Gene . OMIM:116946 a owl:Class ; @@ -13055,13 +13356,14 @@ OMIM:116946 a owl:Class ; PMID:1538749, PMID:15616564, PMID:8234252 ; - oboInOwl:hasDbXref UMLS:C1413260 ; oboInOwl:hasExactSynonym "CDC27", "anaphase-promoting complex, subunit 3", "cell division cycle 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:996 ; - skos:exactMatch HGNC_symbol:CDC27 ; + skos:exactMatch UMLS:C1413260, + HGNC:1728, + HGNC_symbol:CDC27 ; biolink:category biolink:Gene . OMIM:116947 a owl:Class ; @@ -13077,12 +13379,13 @@ OMIM:116947 a owl:Class ; PMID:7667636, PMID:8276402, PMID:9604936 ; - oboInOwl:hasDbXref UMLS:C1332719 ; oboInOwl:hasExactSynonym "CDC25A", "cell division cycle 25a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:993 ; - skos:exactMatch HGNC_symbol:CDC25A ; + skos:exactMatch UMLS:C1332719, + HGNC:1725, + HGNC_symbol:CDC25A ; biolink:category biolink:Gene . OMIM:116948 a owl:Class ; @@ -13090,7 +13393,6 @@ OMIM:116948 a owl:Class ; IAO:0000142 PMID:12037680, PMID:19956254, PMID:8248134 ; - oboInOwl:hasDbXref UMLS:C1413263 ; oboInOwl:hasExactSynonym "CDC34", "cell division cycle 34", "cell division cycle 34, s. cerevisiae, homolog of", @@ -13099,7 +13401,9 @@ OMIM:116948 a owl:Class ; "ubiquitin-conjugating enzyme e2r 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:997 ; - skos:exactMatch HGNC_symbol:CDC34 ; + skos:exactMatch UMLS:C1413263, + HGNC:1734, + HGNC_symbol:CDC34 ; biolink:category biolink:Gene . OMIM:116949 a owl:Class ; @@ -13110,12 +13414,13 @@ OMIM:116949 a owl:Class ; PMID:21242964, PMID:8276402, PMID:8468065 ; - oboInOwl:hasDbXref UMLS:C1413258 ; oboInOwl:hasExactSynonym "CDC25B", "cell division cycle 25b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:994 ; - skos:exactMatch HGNC_symbol:CDC25B ; + skos:exactMatch UMLS:C1413258, + HGNC:1726, + HGNC_symbol:CDC25B ; biolink:category biolink:Gene . OMIM:116951 a owl:Class ; @@ -13128,14 +13433,15 @@ OMIM:116951 a owl:Class ; PMID:8195233, PMID:9740677, PMID:9750192 ; - oboInOwl:hasDbXref UMLS:C1413261 ; oboInOwl:hasExactSynonym "CDK11A", "cell division cycle 2-like 2", "cyclin-dependent kinase 11a", "pitslre a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728642 ; - skos:exactMatch HGNC_symbol:CDK11A ; + skos:exactMatch UMLS:C1413261, + HGNC:1730, + HGNC_symbol:CDK11A ; biolink:category biolink:Gene . OMIM:116952 a owl:Class ; @@ -13190,14 +13496,15 @@ OMIM:116952 a owl:Class ; PMID:9784132 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:616737 ; - oboInOwl:hasDbXref UMLS:C1366537, - UMLS:C4225222 ; oboInOwl:hasExactSynonym "CDC42", "cell division cycle 42", "gtp-binding protein, 25-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:998 ; - skos:exactMatch HGNC_symbol:CDC42 ; + skos:exactMatch UMLS:C1366537, + UMLS:C4225222, + HGNC:1736, + HGNC_symbol:CDC42 ; biolink:category biolink:Gene . OMIM:116953 a owl:Class ; @@ -13219,14 +13526,15 @@ OMIM:116953 a owl:Class ; PMID:9192873, PMID:9660939, PMID:9933170 ; - oboInOwl:hasDbXref UMLS:C1332733 ; oboInOwl:hasExactSynonym "CDK2", "cell division kinase 2", "cyclin-dependent kinase 2", "p33(cdk2)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1017 ; - skos:exactMatch HGNC_symbol:CDK2 ; + skos:exactMatch UMLS:C1332733, + HGNC:1771, + HGNC_symbol:CDK2 ; biolink:category biolink:Gene . OMIM:116954 a owl:Class ; @@ -13247,14 +13555,15 @@ OMIM:116955 a owl:Class ; PMID:30442645 ; RO:0002525 CHR:9606chr3q21.3 ; RO:0003303 OMIM:602668 ; - oboInOwl:hasDbXref UMLS:C1824763 ; oboInOwl:hasExactSynonym "CNBP", "cchc-type zinc finger nucleic acid-binding protein", "cellular retroviral nucleic acid-binding protein 1", "zinc finger protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7555 ; - skos:exactMatch HGNC_symbol:CNBP ; + skos:exactMatch UMLS:C1824763, + HGNC:13164, + HGNC_symbol:CNBP ; biolink:category biolink:Gene . OMIM:116957 a owl:Class ; @@ -13269,14 +13578,15 @@ OMIM:116957 a owl:Class ; PMID:7490090, PMID:8661722, PMID:9819431 ; - oboInOwl:hasDbXref UMLS:C1419295 ; oboInOwl:hasExactSynonym "RBL1", "cellular protein p107", "rb transcriptional corepressor-like 1", "retinoblastoma-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5933 ; - skos:exactMatch HGNC_symbol:RBL1 ; + skos:exactMatch UMLS:C1419295, + HGNC:9893, + HGNC_symbol:RBL1 ; biolink:category biolink:Gene . OMIM:117139 a owl:Class ; @@ -13298,12 +13608,13 @@ OMIM:117139 a owl:Class ; PMID:7962047, PMID:9465302, PMID:9605877 ; - oboInOwl:hasDbXref UMLS:C1413338 ; oboInOwl:hasExactSynonym "CENPA", "centromeric protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1058 ; - skos:exactMatch HGNC_symbol:CENPA ; + skos:exactMatch UMLS:C1413338, + HGNC:1851, + HGNC_symbol:CENPA ; biolink:category biolink:Gene . OMIM:117141 a owl:Class ; @@ -13320,13 +13631,14 @@ OMIM:117141 a owl:Class ; PMID:7959789, PMID:8406460, PMID:8941372 ; - oboInOwl:hasDbXref UMLS:C1413340 ; oboInOwl:hasExactSynonym "CENPC1", "centromeric protein c1", "centromeric protein c1 pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1060 ; - skos:exactMatch HGNC_symbol:CENPC ; + skos:exactMatch UMLS:C1413340, + HGNC:1854, + HGNC_symbol:CENPC ; biolink:category biolink:Gene . OMIM:117142 a owl:Class ; @@ -13349,14 +13661,15 @@ OMIM:117143 a owl:Class ; PMID:9363944 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:616051 ; - oboInOwl:hasDbXref UMLS:C1413342, - UMLS:C4015080 ; oboInOwl:hasExactSynonym "CENPE", "centromeric protein e", "kinesin family member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1062 ; - skos:exactMatch HGNC_symbol:CENPE ; + skos:exactMatch UMLS:C1413342, + UMLS:C4015080, + HGNC:1856, + HGNC_symbol:CENPE ; biolink:category biolink:Gene . OMIM:117200 a owl:Class ; @@ -13369,13 +13682,14 @@ OMIM:117340 a owl:Class ; PMID:2014264, PMID:2348838, PMID:9344654 ; - oboInOwl:hasDbXref UMLS:C1413296 ; oboInOwl:hasExactSynonym "CDR2", "cerebellar degeneration-related autoantigen 2", "cerebellar degeneration-related autoantigen, 62-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1039 ; - skos:exactMatch HGNC_symbol:CDR2 ; + skos:exactMatch UMLS:C1413296, + HGNC:1799, + HGNC_symbol:CDR2 ; biolink:category biolink:Gene . OMIM:117350 a owl:Class ; @@ -13390,8 +13704,8 @@ OMIM:117400 a owl:Class ; OMIM:117600 a owl:Class ; rdfs:label "cerebral sarcoma" ; IAO:0000142 PMID:1180727 ; - oboInOwl:hasDbXref UMLS:C1861714 ; - oboInOwl:hasExactSynonym "cerebral sarcoma" . + oboInOwl:hasExactSynonym "cerebral sarcoma" ; + skos:exactMatch UMLS:C1861714 . OMIM:117700 a owl:Class ; rdfs:label "CP" ; @@ -13432,40 +13746,41 @@ OMIM:117700 a owl:Class ; PMID:9445478 ; RO:0002525 CHR:9606chr3q24-q25.1 ; RO:0003303 OMIM:604290 ; - oboInOwl:hasDbXref UMLS:C1439306 ; oboInOwl:hasExactSynonym "CP", "ceruloplasmin", "ferroxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1356 ; - skos:exactMatch HGNC_symbol:CP ; + skos:exactMatch UMLS:C1439306, + HGNC:2295, + HGNC_symbol:CP ; biolink:category biolink:Gene . OMIM:117850 a owl:Class ; rdfs:label "cervical hypertrichosis with underlying kyphoscoliosis" ; IAO:0000142 PMID:2754057 ; - oboInOwl:hasDbXref UMLS:C1861695 ; oboInOwl:hasExactSynonym "cervical hypertrichosis with underlying kyphoscoliosis", - "hypertrichosis, posterior cervical, with underlying kyphoscoliosis" . + "hypertrichosis, posterior cervical, with underlying kyphoscoliosis" ; + skos:exactMatch UMLS:C1861695 . OMIM:117900 a owl:Class ; rdfs:label "cervical rib" ; IAO:0000142 PMID:13355977, PMID:3621641 ; - oboInOwl:hasDbXref UMLS:C0158779 ; - oboInOwl:hasExactSynonym "cervical rib" . + oboInOwl:hasExactSynonym "cervical rib" ; + skos:exactMatch UMLS:C0158779 . OMIM:118000 a owl:Class ; rdfs:label "cervical vertebral bridge" ; IAO:0000142 PMID:14361662 ; - oboInOwl:hasDbXref UMLS:C1861694 ; - oboInOwl:hasExactSynonym "cervical vertebral bridge" . + oboInOwl:hasExactSynonym "cervical vertebral bridge" ; + skos:exactMatch UMLS:C1861694 . OMIM:118005 a owl:Class ; rdfs:label "cervical vertebral dysplasia" ; IAO:0000142 PMID:1993711 ; - oboInOwl:hasDbXref UMLS:C1861693 ; - oboInOwl:hasExactSynonym "cervical vertebral dysplasia" . + oboInOwl:hasExactSynonym "cervical vertebral dysplasia" ; + skos:exactMatch UMLS:C1861693 . OMIM:118150 a owl:Class ; IAO:0100001 OMIM:107776 ; @@ -13492,7 +13807,6 @@ OMIM:118190 a owl:Class ; PMID:7913555 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:605280 ; - oboInOwl:hasDbXref UMLS:C1415782 ; oboInOwl:hasExactSynonym "HSPD1", "chaperonin, 60-kd", "groel, e. coli, homolog of", @@ -13500,7 +13814,9 @@ OMIM:118190 a owl:Class ; "hsp60" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3329 ; - skos:exactMatch HGNC_symbol:HSPD1 ; + skos:exactMatch UMLS:C1415782, + HGNC:5261, + HGNC_symbol:HSPD1 ; biolink:category biolink:Gene . OMIM:118210 a owl:Class ; @@ -13509,7 +13825,6 @@ OMIM:118210 a owl:Class ; PMID:1733853, PMID:8406488, PMID:9409358 ; - oboInOwl:hasDbXref UMLS:C1861678 ; oboInOwl:hasExactSynonym "CMT2A1", "charcot-marie-tooth disease, axonal, iia 2a1", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a1", @@ -13519,6 +13834,7 @@ OMIM:118210 a owl:Class ; "hmsn iia1", "hmsn2a1" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1861678 ; biolink:category biolink:Disease . OMIM:118220 a owl:Class ; @@ -13595,8 +13911,6 @@ OMIM:118220 a owl:Class ; PMID:8981968, PMID:9315897, PMID:9842994 ; - oboInOwl:hasDbXref UMLS:C0270911, - ORPHA:101081 ; oboInOwl:hasExactSynonym "CMT1A", "charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, iia 1a", "charcot-marie-tooth disease, demyelinating, iia 1a", @@ -13604,13 +13918,15 @@ OMIM:118220 a owl:Class ; "hereditary motor and sensory neuropathy 1a", "hmsn1a" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C0270911, + ORPHA:101081 ; biolink:category biolink:Disease . OMIM:118230 a owl:Class ; rdfs:label "charcot-marie-tooth disease, guadalajara neuronal iia" ; IAO:0000142 PMID:3470161 ; - oboInOwl:hasDbXref UMLS:C1861673 ; - oboInOwl:hasExactSynonym "charcot-marie-tooth disease, guadalajara neuronal iia" . + oboInOwl:hasExactSynonym "charcot-marie-tooth disease, guadalajara neuronal iia" ; + skos:exactMatch UMLS:C1861673 . OMIM:118300 a owl:Class ; rdfs:label "charcot-marie-tooth disease and deafness" ; @@ -13619,31 +13935,31 @@ OMIM:118300 a owl:Class ; PMID:12578939, PMID:7139106, PMID:8355122 ; - oboInOwl:hasDbXref UMLS:C3495591 ; oboInOwl:hasExactSynonym "charcot-marie-tooth disease and deafness", "charcot-marie-tooth disease, demyelinating, iia 1e", "charcot-marie-tooth neuropathy and deafness, autosomal dominant" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3495591 ; biolink:category biolink:Disease . OMIM:118301 a owl:Class ; rdfs:label "charcot-marie-tooth disease with ptosis and parkinsonism" ; IAO:0000142 PMID:2184381 ; - oboInOwl:hasDbXref UMLS:C1861668 ; - oboInOwl:hasExactSynonym "charcot-marie-tooth disease with ptosis and parkinsonism" . + oboInOwl:hasExactSynonym "charcot-marie-tooth disease with ptosis and parkinsonism" ; + skos:exactMatch UMLS:C1861668 . OMIM:118330 a owl:Class ; rdfs:label "cheilitis glandularis" ; IAO:0000142 PMID:3980837, PMID:5091868 ; - oboInOwl:hasDbXref UMLS:C0267034 ; - oboInOwl:hasExactSynonym "cheilitis glandularis" . + oboInOwl:hasExactSynonym "cheilitis glandularis" ; + skos:exactMatch UMLS:C0267034 . OMIM:118350 a owl:Class ; rdfs:label "chemodectoma, intraabdominal, with cutaneous angiolipomas" ; IAO:0000142 PMID:195258 ; - oboInOwl:hasDbXref UMLS:C2930928 ; - oboInOwl:hasExactSynonym "chemodectoma, intraabdominal, with cutaneous angiolipomas" . + oboInOwl:hasExactSynonym "chemodectoma, intraabdominal, with cutaneous angiolipomas" ; + skos:exactMatch UMLS:C2930928 . OMIM:118420 a owl:Class ; rdfs:label "chiari malformation iia 1" ; @@ -13678,12 +13994,12 @@ OMIM:118420 a owl:Class ; PMID:8988080, PMID:9482195, PMID:9688115 ; - oboInOwl:hasDbXref UMLS:C0750929, - UMLS:C1861647 ; oboInOwl:hasExactSynonym "chiari malformation iia 1", "chiari malformation iia 1 with syringomyelia", "cm1", "cm1 with syringomyelia" ; + skos:exactMatch UMLS:C0750929, + UMLS:C1861647 ; biolink:category biolink:Disease . OMIM:118423 a owl:Class ; @@ -13699,8 +14015,6 @@ OMIM:118423 a owl:Class ; PMID:8336731 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:604356 ; - oboInOwl:hasDbXref UMLS:C0751083, - UMLS:C1413396 ; oboInOwl:hasExactSynonym "CHN1", "chimerin 1", "chimerin, alpha-1", @@ -13710,7 +14024,10 @@ OMIM:118423 a owl:Class ; "rho gtpase-activating protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1123 ; - skos:exactMatch HGNC_symbol:CHN1 ; + skos:exactMatch UMLS:C0751083, + UMLS:C1413396, + HGNC:1943, + HGNC_symbol:CHN1 ; biolink:category biolink:Gene . OMIM:118425 a owl:Class ; @@ -13752,13 +14069,14 @@ OMIM:118425 a owl:Class ; PMID:9158157, PMID:9736777 ; RO:0002525 CHR:9606chr7q34 ; - oboInOwl:hasDbXref UMLS:C1413450 ; oboInOwl:hasExactSynonym "CLCN1", "chloride channel 1, skeletal muscle", "chloride channel, muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1180 ; - skos:exactMatch HGNC_symbol:CLCN1 ; + skos:exactMatch UMLS:C1413450, + HGNC:2019, + HGNC_symbol:CLCN1 ; biolink:category biolink:Gene . OMIM:118430 a owl:Class ; @@ -13771,9 +14089,9 @@ OMIM:118430 a owl:Class ; PMID:7438499, PMID:84999, PMID:86772 ; - oboInOwl:hasDbXref UMLS:C1861630 ; oboInOwl:hasExactSynonym "CPAF", - "chlorpropamide-alcohol flushing" . + "chlorpropamide-alcohol flushing" ; + skos:exactMatch UMLS:C1861630 . OMIM:118440 a owl:Class ; rdfs:label "CCK" ; @@ -13789,12 +14107,13 @@ OMIM:118440 a owl:Class ; PMID:3582983, PMID:6105617, PMID:6288173 ; - oboInOwl:hasDbXref UMLS:C1413167 ; oboInOwl:hasExactSynonym "CCK", "cholecystokinin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:885 ; - skos:exactMatch HGNC_symbol:CCK ; + skos:exactMatch UMLS:C1413167, + HGNC:1569, + HGNC_symbol:CCK ; biolink:category biolink:Gene . OMIM:118444 a owl:Class ; @@ -13810,12 +14129,13 @@ OMIM:118444 a owl:Class ; PMID:8503909, PMID:8719040, PMID:9192855 ; - oboInOwl:hasDbXref UMLS:C1413168 ; oboInOwl:hasExactSynonym "CCKAR", "cholecystokinin a receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:886 ; - skos:exactMatch HGNC_symbol:CCKAR ; + skos:exactMatch UMLS:C1413168, + HGNC:1570, + HGNC_symbol:CCKAR ; biolink:category biolink:Gene . OMIM:118445 a owl:Class ; @@ -13827,13 +14147,14 @@ OMIM:118445 a owl:Class ; PMID:7759110, PMID:8222757, PMID:8455720 ; - oboInOwl:hasDbXref UMLS:C1332675 ; oboInOwl:hasExactSynonym "CCKBR", "cholecystokinin B receptor", "gastrin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:887 ; - skos:exactMatch HGNC_symbol:CCKBR ; + skos:exactMatch UMLS:C1332675, + HGNC:1571, + HGNC_symbol:CCKBR ; biolink:category biolink:Gene . OMIM:118450 a owl:Class ; @@ -13908,8 +14229,6 @@ OMIM:118450 a owl:Class ; PMID:9700188, PMID:9925853, PMID:9951486 ; - oboInOwl:hasDbXref UMLS:C0085280, - UMLS:C1956125 ; oboInOwl:hasExactSynonym "ALGS1", "alagille syndrome", "alagille syndrome 1", @@ -13918,6 +14237,8 @@ OMIM:118450 a owl:Class ; "cholestasis with peripheral pulmonary stenosis", "hepatic ductular hypoplasia, syndromatic" ; rdfs:subClassOf OMIMPS:118450 ; + skos:exactMatch UMLS:C0085280, + UMLS:C1956125 ; biolink:category biolink:Disease . OMIM:118455 a owl:Class ; @@ -13936,7 +14257,6 @@ OMIM:118455 a owl:Class ; PMID:3474660, PMID:731122, PMID:9502769 ; - oboInOwl:hasDbXref UMLS:C1413893 ; oboInOwl:hasExactSynonym "CYP7A1", "cholesterol 7-alpha-hydroxylase", "cholesterol 7-alpha-monooxygenase", @@ -13944,16 +14264,18 @@ OMIM:118455 a owl:Class ; "cytochrome p450, subfamily viia, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1581 ; - skos:exactMatch HGNC_symbol:CYP7A1 ; + skos:exactMatch UMLS:C1413893, + HGNC:2651, + HGNC_symbol:CYP7A1 ; biolink:category biolink:Gene . OMIM:118457 a owl:Class ; rdfs:label "CCI" ; IAO:0000142 PMID:8425696 ; - oboInOwl:hasDbXref UMLS:C1861617 ; oboInOwl:hasExactSynonym "CCI", "cholesterol crystallization inhibitor" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1861617 ; biolink:category biolink:Gene . OMIM:118470 a owl:Class ; @@ -13981,13 +14303,14 @@ OMIM:118470 a owl:Class ; PMID:9420339 ; RO:0002525 CHR:9606chr16q13 ; RO:0003303 OMIM:143470 ; - oboInOwl:hasDbXref UMLS:C1413353 ; oboInOwl:hasExactSynonym "CETP", "cholesteryl ester transfer protein, plasma", "lipid transfer protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1071 ; - skos:exactMatch HGNC_symbol:CETP ; + skos:exactMatch UMLS:C1413353, + HGNC:1869, + HGNC_symbol:CETP ; biolink:category biolink:Gene . OMIM:118480 a owl:Class ; @@ -14019,7 +14342,6 @@ OMIM:118485 a owl:Class ; PMID:9511181 ; RO:0002525 CHR:9606chr15q24.1 ; RO:0003303 OMIM:613743 ; - oboInOwl:hasDbXref UMLS:C1413855 ; oboInOwl:hasExactSynonym "CYP11A1", "cholesterol side-chain cleavage enzyme", "cyp11a", @@ -14029,7 +14351,9 @@ OMIM:118485 a owl:Class ; "cytochrome p450scc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1583 ; - skos:exactMatch HGNC_symbol:CYP11A1 ; + skos:exactMatch UMLS:C1413855, + HGNC:2590, + HGNC_symbol:CYP11A1 ; biolink:category biolink:Gene . OMIM:118490 a owl:Class ; @@ -14048,12 +14372,13 @@ OMIM:118490 a owl:Class ; PMID:8071310 ; RO:0002525 CHR:9606chr10q11.23 ; RO:0003303 OMIM:254210 ; - oboInOwl:hasDbXref UMLS:C1413376 ; oboInOwl:hasExactSynonym "CHAT", "choline acetyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1103 ; - skos:exactMatch HGNC_symbol:CHAT ; + skos:exactMatch UMLS:C1413376, + HGNC:1912, + HGNC_symbol:CHAT ; biolink:category biolink:Gene . OMIM:118491 a owl:Class ; @@ -14064,14 +14389,15 @@ OMIM:118491 a owl:Class ; PMID:21035492, PMID:21665002, PMID:9370318 ; - oboInOwl:hasDbXref UMLS:C1332757 ; oboInOwl:hasExactSynonym "CHKA", "chk", "choline kinase, alpha", "cki, yeast, human complement of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1119 ; - skos:exactMatch HGNC_symbol:CHKA ; + skos:exactMatch UMLS:C1332757, + HGNC:1937, + HGNC_symbol:CHKA ; biolink:category biolink:Gene . OMIM:118493 a owl:Class ; @@ -14084,13 +14410,14 @@ OMIM:118493 a owl:Class ; PMID:31945772, PMID:3443095, PMID:7579899 ; - oboInOwl:hasDbXref UMLS:C1413400 ; oboInOwl:hasExactSynonym "CHRM2", "acetylcholine receptor, muscarinic, 2", "cholinergic receptor, muscarinic, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1129 ; - skos:exactMatch HGNC_symbol:CHRM2 ; + skos:exactMatch UMLS:C1413400, + HGNC:1951, + HGNC_symbol:CHRM2 ; biolink:category biolink:Gene . OMIM:118494 a owl:Class ; @@ -14107,39 +14434,42 @@ OMIM:118494 a owl:Class ; PMID:31441039 ; RO:0002525 CHR:9606chr1q43 ; RO:0003303 OMIM:100100 ; - oboInOwl:hasDbXref UMLS:C0033770, - UMLS:C1332759 ; oboInOwl:hasExactSynonym "CHRM3", "acetylcholine receptor, muscarinic, 3", "cholinergic receptor, muscarinic, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1131 ; - skos:exactMatch HGNC_symbol:CHRM3 ; + skos:exactMatch UMLS:C0033770, + UMLS:C1332759, + HGNC:1952, + HGNC_symbol:CHRM3 ; biolink:category biolink:Gene . OMIM:118495 a owl:Class ; rdfs:label "CHRM4" ; IAO:0000142 PMID:1577490, PMID:2570410 ; - oboInOwl:hasDbXref UMLS:C1332760 ; oboInOwl:hasExactSynonym "CHRM4", "acetylcholine receptor, muscarinic, 4", "cholinergic receptor, muscarinic, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1132 ; - skos:exactMatch HGNC_symbol:CHRM4 ; + skos:exactMatch UMLS:C1332760, + HGNC:1953, + HGNC_symbol:CHRM4 ; biolink:category biolink:Gene . OMIM:118496 a owl:Class ; rdfs:label "CHRM5" ; IAO:0000142 PMID:15620360 ; - oboInOwl:hasDbXref UMLS:C1332761 ; oboInOwl:hasExactSynonym "CHRM5", "acetylcholine receptor, muscarinic, 5", "cholinergic receptor, muscarinic, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1133 ; - skos:exactMatch HGNC_symbol:CHRM5 ; + skos:exactMatch UMLS:C1332761, + HGNC:1954, + HGNC_symbol:CHRM5 ; biolink:category biolink:Gene . OMIM:118502 a owl:Class ; @@ -14154,13 +14484,14 @@ OMIM:118502 a owl:Class ; PMID:8906617 ; RO:0002525 CHR:9606chr8p21.2 ; RO:0003303 OMIM:610353 ; - oboInOwl:hasDbXref UMLS:C1413402 ; oboInOwl:hasExactSynonym "CHRNA2", "acetylcholine receptor, neuronal nicotinic, alpha-2 subunit", "cholinergic receptor, neuronal nicotinic, alpha polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1135 ; - skos:exactMatch HGNC_symbol:CHRNA2 ; + skos:exactMatch UMLS:C1413402, + HGNC:1956, + HGNC_symbol:CHRNA2 ; biolink:category biolink:Gene . OMIM:118503 a owl:Class ; @@ -14185,16 +14516,17 @@ OMIM:118503 a owl:Class ; PMID:9921897 ; RO:0002525 CHR:9606chr15q25.1 ; RO:0003303 OMIM:612052 ; - oboInOwl:hasDbXref UMLS:C1413403, - UMLS:C1861063, - UMLS:C2677571, - UMLS:C5231389 ; oboInOwl:hasExactSynonym "CHRNA3", "acetylcholine receptor, neuronal nicotinic, alpha-3 subunit", "cholinergic receptor, neuronal nicotinic, alpha polypeptide 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1136 ; - skos:exactMatch HGNC_symbol:CHRNA3 ; + skos:exactMatch UMLS:C1413403, + UMLS:C1861063, + UMLS:C2677571, + UMLS:C5231389, + HGNC:1957, + HGNC_symbol:CHRNA3 ; biolink:category biolink:Gene . OMIM:118504 a owl:Class ; @@ -14229,13 +14561,14 @@ OMIM:118504 a owl:Class ; PMID:9425895 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:188890 ; - oboInOwl:hasDbXref UMLS:C1413404 ; oboInOwl:hasExactSynonym "CHRNA4", "acetylcholine receptor, neuronal nicotinic, alpha-4 subunit", "cholinergic receptor, neuronal nicotinic, alpha polypeptide 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1137 ; - skos:exactMatch HGNC_symbol:CHRNA4 ; + skos:exactMatch UMLS:C1413404, + HGNC:1958, + HGNC_symbol:CHRNA4 ; biolink:category biolink:Gene . OMIM:118505 a owl:Class ; @@ -14253,13 +14586,14 @@ OMIM:118505 a owl:Class ; PMID:9009220 ; RO:0002525 CHR:9606chr15q25.1 ; RO:0003303 OMIM:612052 ; - oboInOwl:hasDbXref UMLS:C1413405 ; oboInOwl:hasExactSynonym "CHRNA5", "acetylcholine receptor, neuronal nicotinic, alpha-5 subunit", "cholinergic receptor, neuronal nicotinic, alpha polypeptide 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1138 ; - skos:exactMatch HGNC_symbol:CHRNA5 ; + skos:exactMatch UMLS:C1413405, + HGNC:1959, + HGNC_symbol:CHRNA5 ; biolink:category biolink:Gene . OMIM:118507 a owl:Class ; @@ -14285,13 +14619,14 @@ OMIM:118507 a owl:Class ; PMID:9921897 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:605375 ; - oboInOwl:hasDbXref UMLS:C1413408 ; oboInOwl:hasExactSynonym "CHRNB2", "acetylcholine receptor, neuronal nicotinic, beta-2 subunit", "cholinergic receptor, neuronal nicotinic, beta polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1141 ; - skos:exactMatch HGNC_symbol:CHRNB2 ; + skos:exactMatch UMLS:C1413408, + HGNC:1962, + HGNC_symbol:CHRNB2 ; biolink:category biolink:Gene . OMIM:118508 a owl:Class ; @@ -14301,13 +14636,14 @@ OMIM:118508 a owl:Class ; PMID:8088849, PMID:8906617, PMID:9009220 ; - oboInOwl:hasDbXref UMLS:C1413409 ; oboInOwl:hasExactSynonym "CHRNB3", "acetylcholine receptor, neuronal nicotinic, beta-3 subunit", "cholinergic receptor, neuronal nicotinic, beta polypeptide 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1142 ; - skos:exactMatch HGNC_symbol:CHRNB3 ; + skos:exactMatch UMLS:C1413409, + HGNC:1963, + HGNC_symbol:CHRNB3 ; biolink:category biolink:Gene . OMIM:118509 a owl:Class ; @@ -14320,13 +14656,14 @@ OMIM:118509 a owl:Class ; PMID:21659607, PMID:8906617, PMID:9009220 ; - oboInOwl:hasDbXref UMLS:C1413410 ; oboInOwl:hasExactSynonym "CHRNB4", "acetylcholine receptor, neuronal nicotinic, beta-4 subunit", "cholinergic receptor, neuronal nicotinic, beta polypeptide 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1143 ; - skos:exactMatch HGNC_symbol:CHRNB4 ; + skos:exactMatch UMLS:C1413410, + HGNC:1964, + HGNC_symbol:CHRNB4 ; biolink:category biolink:Gene . OMIM:118510 a owl:Class ; @@ -14343,13 +14680,14 @@ OMIM:118510 a owl:Class ; PMID:3443095, PMID:8938448, PMID:9736760 ; - oboInOwl:hasDbXref UMLS:C1332758 ; oboInOwl:hasExactSynonym "CHRM1", "acetylcholine receptor, muscarinic, 1", "cholinergic receptor, muscarinic, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1128 ; - skos:exactMatch HGNC_symbol:CHRM1 ; + skos:exactMatch UMLS:C1332758, + HGNC:1950, + HGNC_symbol:CHRM1 ; biolink:category biolink:Gene . OMIM:118511 a owl:Class ; @@ -14364,13 +14702,14 @@ OMIM:118511 a owl:Class ; PMID:8906617, PMID:9009220, PMID:9782083 ; - oboInOwl:hasDbXref UMLS:C1413406 ; oboInOwl:hasExactSynonym "CHRNA7", "acetylcholine receptor, neuronal nicotinic, alpha-7 subunit", "cholinergic receptor, neuronal nicotinic, alpha polypeptide 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1139 ; - skos:exactMatch HGNC_symbol:CHRNA7 ; + skos:exactMatch UMLS:C1413406, + HGNC:1960, + HGNC_symbol:CHRNA7 ; biolink:category biolink:Gene . OMIM:118600 a owl:Class ; @@ -14408,8 +14747,6 @@ OMIM:118600 a owl:Class ; PMID:7370061, PMID:8528213, PMID:9915952 ; - oboInOwl:hasDbXref UMLS:C0856830, - ORPHA:1416 ; oboInOwl:hasExactSynonym "CCAL2", "calcium gout", "calcium pyrophosphate arthropathy", @@ -14417,15 +14754,17 @@ OMIM:118600 a owl:Class ; "calcium pyrophosphate dihydrate deposition disease 2", "chondrocalcinosis 2", "chondrocalcinosis, familial articular" ; + skos:exactMatch UMLS:C0856830, + ORPHA:1416 ; biolink:category biolink:Disease . OMIM:118610 a owl:Class ; rdfs:label "chondrocalcinosis due to apatite crystal deposition" ; IAO:0000142 PMID:4716279, PMID:6269428 ; - oboInOwl:hasDbXref UMLS:C1861580 ; oboInOwl:hasExactSynonym "chondrocalcinosis due to apatite crystal deposition", - "familial apatite disease" . + "familial apatite disease" ; + skos:exactMatch UMLS:C1861580 . OMIM:118650 a owl:Class ; rdfs:label "chondrodysplasia punctata, autosomal dominant" ; @@ -14447,12 +14786,12 @@ OMIM:118650 a owl:Class ; PMID:7460383, PMID:9382132, PMID:993917 ; - oboInOwl:hasDbXref UMLS:C1442935, - UMLS:C1861578, - UMLS:C1861579 ; oboInOwl:hasExactSynonym "chondrodysplasia punctata due to vitamin k deficiency", "chondrodysplasia punctata due to warfarin teratogenicity", - "chondrodysplasia punctata, autosomal dominant" . + "chondrodysplasia punctata, autosomal dominant" ; + skos:exactMatch UMLS:C1442935, + UMLS:C1861578, + UMLS:C1861579 . OMIM:118651 a owl:Class ; rdfs:label "chondrodysplasia punctata, tibia-metacarpal iia" ; @@ -14467,9 +14806,9 @@ OMIM:118651 a owl:Class ; PMID:9719382, PMID:9719383, PMID:9719384 ; - oboInOwl:hasDbXref UMLS:C0432224 ; oboInOwl:hasExactSynonym "chondrodysplasia punctata, mt iia", "chondrodysplasia punctata, tibia-metacarpal iia" ; + skos:exactMatch UMLS:C0432224 ; biolink:category biolink:Disease . OMIM:118661 a owl:Class ; @@ -14497,21 +14836,22 @@ OMIM:118661 a owl:Class ; PMID:8601689 ; RO:0002525 CHR:9606chr5q14.2-q14.3 ; RO:0003303 OMIM:143200 ; - oboInOwl:hasDbXref UMLS:C1413763 ; oboInOwl:hasExactSynonym "VCAN", "chondroitin sulfate proteoglycan 2", "chondroitin sulfate proteoglycan core protein, cartilage", "versican" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1462 ; - skos:exactMatch HGNC_symbol:VCAN ; + skos:exactMatch UMLS:C1413763, + HGNC:2464, + HGNC_symbol:VCAN ; biolink:category biolink:Gene . OMIM:118670 a owl:Class ; rdfs:label "chondronectin" ; IAO:0000142 PMID:7012158 ; - oboInOwl:hasDbXref UMLS:C3887693 ; - oboInOwl:hasExactSynonym "chondronectin" . + oboInOwl:hasExactSynonym "chondronectin" ; + skos:exactMatch UMLS:C3887693 . OMIM:118700 a owl:Class ; rdfs:label "chorea, benign hereditary" ; @@ -14532,20 +14872,20 @@ OMIM:118700 a owl:Class ; PMID:624192, PMID:7634535, PMID:8133497 ; - oboInOwl:hasDbXref UMLS:C0393584, - ORPHA:1429 ; oboInOwl:hasExactSynonym "BHC", "bch", "chorea, benign hereditary", "hereditary progressive chorea without dementia" ; + skos:exactMatch UMLS:C0393584, + ORPHA:1429 ; biolink:category biolink:Disease . OMIM:118750 a owl:Class ; rdfs:label "choreoathetosis, familial inverted" ; IAO:0000142 PMID:159419 ; - oboInOwl:hasDbXref UMLS:C1861569 ; oboInOwl:hasExactSynonym "choreoathetosis, familial inverted", - "infantile choreoathetosis of fisher" . + "infantile choreoathetosis of fisher" ; + skos:exactMatch UMLS:C1861569 . OMIM:118820 a owl:Class ; rdfs:label "CSH2" ; @@ -14553,13 +14893,14 @@ OMIM:118820 a owl:Class ; PMID:2744760, PMID:6306568, PMID:7072716 ; - oboInOwl:hasDbXref UMLS:C1413753 ; oboInOwl:hasExactSynonym "CSH2", "chorionic somatomammotropin B", "chorionic somatomammotropin hormone 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1443 ; - skos:exactMatch HGNC_symbol:CSH2 ; + skos:exactMatch UMLS:C1413753, + HGNC:2441, + HGNC_symbol:CSH2 ; biolink:category biolink:Gene . OMIM:118825 a owl:Class ; @@ -14567,30 +14908,31 @@ OMIM:118825 a owl:Class ; IAO:0000142 PMID:11401433, PMID:1301160, PMID:15186776 ; - oboInOwl:hasDbXref UMLS:C1413395 ; oboInOwl:hasExactSynonym "CHML", "chm-like", "rab escort protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1122 ; - skos:exactMatch HGNC_symbol:CHML ; + skos:exactMatch UMLS:C1413395, + HGNC:1941, + HGNC_symbol:CHML ; biolink:category biolink:Gene . OMIM:118830 a owl:Class ; rdfs:label "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase" ; IAO:0000142 PMID:6833877 ; - oboInOwl:hasDbXref UMLS:C1861560 ; oboInOwl:hasExactSynonym "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase", "hyperlipoproteinemia, iia 1c" ; + skos:exactMatch UMLS:C1861560 ; biolink:category biolink:Disease . OMIM:118840 a owl:Class ; rdfs:label "chromate resistance" ; IAO:0000142 PMID:7177110, PMID:9732752 ; - oboInOwl:hasDbXref UMLS:C1861559 ; oboInOwl:hasExactSynonym "CHR", "chromate resistance" ; + skos:exactMatch UMLS:C1861559 ; biolink:category biolink:Disease . OMIM:118860 a owl:Class ; @@ -14613,51 +14955,53 @@ OMIM:118860 a owl:Class ; PMID:6690982, PMID:6774259, PMID:8961276 ; - oboInOwl:hasDbXref UMLS:C1413367 ; oboInOwl:hasExactSynonym "CGB", "chorionic gonadotropin, beta chain", "chorionic gonadotropin, beta polypeptide 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1082 ; - skos:exactMatch HGNC_symbol:CGB3 ; + skos:exactMatch UMLS:C1413367, + HGNC:1886, + HGNC_symbol:CGB3 ; biolink:category biolink:Gene . OMIM:118865 a owl:Class ; rdfs:label "choroidal osteoma, bilateral" ; IAO:0000142 PMID:2346194 ; - oboInOwl:hasDbXref UMLS:C1861558 ; - oboInOwl:hasExactSynonym "choroidal osteoma, bilateral" . + oboInOwl:hasExactSynonym "choroidal osteoma, bilateral" ; + skos:exactMatch UMLS:C1861558 . OMIM:118870 a owl:Class ; rdfs:label "NHCP1" ; IAO:0000142 PMID:6942405, PMID:922894 ; - oboInOwl:hasDbXref UMLS:C1417720 ; oboInOwl:hasExactSynonym "NHCP1", "chromosomal protein, nonhistone 1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1417720 ; biolink:category biolink:Gene . OMIM:118880 a owl:Class ; rdfs:label "NHCP2" ; IAO:0000142 PMID:6985465 ; - oboInOwl:hasDbXref UMLS:C1861557 ; oboInOwl:hasExactSynonym "NHCP2", "chromosomal protein, nonhistone 2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1861557 ; biolink:category biolink:Gene . OMIM:118888 a owl:Class ; rdfs:label "CTRL" ; IAO:0000142 PMID:8268911, PMID:9065485 ; - oboInOwl:hasDbXref UMLS:C1413809 ; oboInOwl:hasExactSynonym "CTRL", "chymotrypsin-like protease", "ctrl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1506 ; - skos:exactMatch HGNC_symbol:CTRL ; + skos:exactMatch UMLS:C1413809, + HGNC:2524, + HGNC_symbol:CTRL ; biolink:category biolink:Gene . OMIM:118890 a owl:Class ; @@ -14668,7 +15012,6 @@ OMIM:118890 a owl:Class ; PMID:2896626, PMID:2917002, PMID:6589790 ; - oboInOwl:hasDbXref UMLS:C1413806 ; oboInOwl:hasExactSynonym "CTRB1", "alpha-chymotrypsinogen", "chymotrypsinogen B", @@ -14676,7 +15019,9 @@ OMIM:118890 a owl:Class ; "chymotrypsinogen b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1504 ; - skos:exactMatch HGNC_symbol:CTRB1 ; + skos:exactMatch UMLS:C1413806, + HGNC:2521, + HGNC_symbol:CTRB1 ; biolink:category biolink:Gene . OMIM:118900 a owl:Class ; @@ -14684,8 +15029,8 @@ OMIM:118900 a owl:Class ; IAO:0000142 PMID:4097813, PMID:4999004, PMID:669217 ; - oboInOwl:hasDbXref UMLS:C1861556 ; - oboInOwl:hasExactSynonym "cirrhosis, familial" . + oboInOwl:hasExactSynonym "cirrhosis, familial" ; + skos:exactMatch UMLS:C1861556 . OMIM:118910 a owl:Class ; rdfs:label "CHGA" ; @@ -14714,8 +15059,6 @@ OMIM:118910 a owl:Class ; PMID:8406464, PMID:9111083, PMID:9253344 ; - oboInOwl:hasDbXref UMLS:C0070009, - UMLS:C1332754 ; oboInOwl:hasExactSynonym "CHGA", "catestatin", "cga", @@ -14726,20 +15069,24 @@ OMIM:118910 a owl:Class ; "secretory protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1113 ; - skos:exactMatch HGNC_symbol:CHGA ; + skos:exactMatch UMLS:C0070009, + UMLS:C1332754, + HGNC:1929, + HGNC_symbol:CHGA ; biolink:category biolink:Gene . OMIM:118920 a owl:Class ; rdfs:label "CHGB" ; IAO:0000142 PMID:1685143, PMID:3608978 ; - oboInOwl:hasDbXref UMLS:C1332755 ; oboInOwl:hasExactSynonym "CHGB", "chromogranin B", "secretogranin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1114 ; - skos:exactMatch HGNC_symbol:CHGB ; + skos:exactMatch UMLS:C1332755, + HGNC:1930, + HGNC_symbol:CHGB ; biolink:category biolink:Gene . OMIM:118930 a owl:Class ; @@ -14755,14 +15102,15 @@ OMIM:118930 a owl:Class ; PMID:8492910, PMID:8617499, PMID:9473216 ; - oboInOwl:hasDbXref UMLS:C1335805 ; oboInOwl:hasExactSynonym "SCG2", "chromogranin c", "secretogranin 2", "secretoneurin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7857 ; - skos:exactMatch HGNC_symbol:SCG2 ; + skos:exactMatch UMLS:C1335805, + HGNC:10575, + HGNC_symbol:SCG2 ; biolink:category biolink:Gene . OMIM:118940 a owl:Class ; @@ -14796,12 +15144,13 @@ OMIM:118945 a owl:Class ; PMID:9121555, PMID:9177239, PMID:9342199 ; - oboInOwl:hasDbXref UMLS:C1413557 ; oboInOwl:hasExactSynonym "CNTF", "ciliary neurotrophic factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1270 ; - skos:exactMatch HGNC_symbol:CNTF ; + skos:exactMatch UMLS:C1413557, + HGNC:2169, + HGNC_symbol:CNTF ; biolink:category biolink:Gene . OMIM:118946 a owl:Class ; @@ -14812,13 +15161,14 @@ OMIM:118946 a owl:Class ; PMID:7774911, PMID:7774913, PMID:8244400 ; - oboInOwl:hasDbXref UMLS:C1413558 ; oboInOwl:hasExactSynonym "CNTFR", "ciliary neurotrophic factor receptor", "cntfr-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1271 ; - skos:exactMatch HGNC_symbol:CNTFR ; + skos:exactMatch UMLS:C1413558, + HGNC:2170, + HGNC_symbol:CNTFR ; biolink:category biolink:Gene . OMIM:118950 a owl:Class ; @@ -14832,12 +15182,13 @@ OMIM:118950 a owl:Class ; PMID:4795824, PMID:598842, PMID:9809442 ; - oboInOwl:hasDbXref UMLS:C1413745 ; oboInOwl:hasExactSynonym "CS", "citrate synthase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1431 ; - skos:exactMatch HGNC_symbol:CS ; + skos:exactMatch UMLS:C1413745, + HGNC:2422, + HGNC_symbol:CS ; biolink:category biolink:Gene . OMIM:118953 a owl:Class ; @@ -14860,9 +15211,6 @@ OMIM:118955 a owl:Class ; PMID:9405660 ; RO:0002525 CHR:9606chr17q23.1 ; RO:0003303 OMIM:617854 ; - oboInOwl:hasDbXref UMLS:C1413512, - UMLS:C1861554, - UMLS:C3151474 ; oboInOwl:hasExactSynonym "CLTC", "clathrin heavy chain", "clathrin, heavy polypeptide", @@ -14870,7 +15218,11 @@ OMIM:118955 a owl:Class ; "cltc/tfe3 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1213 ; - skos:exactMatch HGNC_symbol:CLTC ; + skos:exactMatch UMLS:C1413512, + UMLS:C1861554, + UMLS:C3151474, + HGNC:2092, + HGNC_symbol:CLTC ; biolink:category biolink:Gene . OMIM:118960 a owl:Class ; @@ -14883,13 +15235,14 @@ OMIM:118960 a owl:Class ; PMID:3563513, PMID:3821891, PMID:7713494 ; - oboInOwl:hasDbXref UMLS:C1413510 ; oboInOwl:hasExactSynonym "CLTA", "clathrin, light polypeptide a", "lca" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1211 ; - skos:exactMatch HGNC_symbol:CLTA ; + skos:exactMatch UMLS:C1413510, + HGNC:2090, + HGNC_symbol:CLTA ; biolink:category biolink:Gene . OMIM:118970 a owl:Class ; @@ -14899,13 +15252,14 @@ OMIM:118970 a owl:Class ; PMID:3563513, PMID:3821891, PMID:7713494 ; - oboInOwl:hasDbXref UMLS:C1413511 ; oboInOwl:hasExactSynonym "CLTB", "clathrin, light polypeptide B", "lcb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1212 ; - skos:exactMatch HGNC_symbol:CLTB ; + skos:exactMatch UMLS:C1413511, + HGNC:2091, + HGNC_symbol:CLTB ; biolink:category biolink:Gene . OMIM:118980 a owl:Class ; @@ -14913,13 +15267,12 @@ OMIM:118980 a owl:Class ; IAO:0000142 PMID:18080323, PMID:3284906, PMID:5487563 ; - oboInOwl:hasDbXref UMLS:C0265565 ; - oboInOwl:hasExactSynonym "clavicle, pseudarthrosis of, congenital" . + oboInOwl:hasExactSynonym "clavicle, pseudarthrosis of, congenital" ; + skos:exactMatch UMLS:C0265565 . OMIM:118990 a owl:Class ; rdfs:label "ITPRID2" ; IAO:0000142 PMID:1555770 ; - oboInOwl:hasDbXref UMLS:C1420426 ; oboInOwl:hasExactSynonym "ITPRID2", "cleavage signal 1", "itpr-interacting domain-containing protein 2", @@ -14927,14 +15280,16 @@ OMIM:118990 a owl:Class ; "sperm-specific antigen 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6744 ; - skos:exactMatch HGNC_symbol:ITPRID2 ; + skos:exactMatch UMLS:C1420426, + HGNC:11319, + HGNC_symbol:ITPRID2 ; biolink:category biolink:Gene . OMIM:119000 a owl:Class ; rdfs:label "cleft chin" ; - oboInOwl:hasDbXref UMLS:C1849227 ; oboInOwl:hasExactSynonym "chin dimple", "cleft chin" ; + skos:exactMatch UMLS:C1849227 ; biolink:category biolink:Disease . OMIM:119300 a owl:Class ; @@ -14977,13 +15332,13 @@ OMIM:119300 a owl:Class ; PMID:7395906, PMID:8069301, PMID:8884274 ; - oboInOwl:hasDbXref UMLS:C0175697, - UMLS:C4551864 ; oboInOwl:hasExactSynonym "VWS1", "cleft 51p and/or palate with mucous cysts of lower 51p", "lip-pit syndrome", "van der woude syndrome 1", "vdws" ; + skos:exactMatch UMLS:C0175697, + UMLS:C4551864 ; biolink:category biolink:Disease . OMIM:119500 a owl:Class ; @@ -15006,12 +15361,12 @@ OMIM:119500 a owl:Class ; PMID:6928117, PMID:7628117, PMID:830904 ; - oboInOwl:hasDbXref UMLS:C0265259, - ORPHA:1300 ; oboInOwl:hasExactSynonym "PPS", "cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies", "faciogenitopopliteal syndrome", "popliteal pterygium syndrome" ; + skos:exactMatch UMLS:C0265259, + ORPHA:1300 ; biolink:category biolink:Disease . OMIM:119540 a owl:Class ; @@ -15026,10 +15381,10 @@ OMIM:119540 a owl:Class ; PMID:7702037, PMID:8105683, PMID:8554055 ; - oboInOwl:hasDbXref UMLS:C1837218 ; oboInOwl:hasExactSynonym "CPI", "cleft palate", "cleft palate, isolated" ; + skos:exactMatch UMLS:C1837218 ; biolink:category biolink:Disease . OMIM:119550 a owl:Class ; @@ -15041,17 +15396,17 @@ OMIM:119550 a owl:Class ; PMID:421363, PMID:5052209, PMID:8149059 ; - oboInOwl:hasDbXref UMLS:C0795898 ; oboInOwl:hasExactSynonym "cleft palate-lateral synechia syndrome", "cpls syndrome", "syngnathia" ; + skos:exactMatch UMLS:C0795898 ; biolink:category biolink:Disease . OMIM:119570 a owl:Class ; rdfs:label "cleft soft palate" ; IAO:0000142 PMID:7372339 ; - oboInOwl:hasDbXref UMLS:C0432098 ; - oboInOwl:hasExactSynonym "cleft soft palate" . + oboInOwl:hasExactSynonym "cleft soft palate" ; + skos:exactMatch UMLS:C0432098 . OMIM:119600 a owl:Class ; rdfs:label "cleidocranial dysplasia" ; @@ -15092,21 +15447,21 @@ OMIM:119600 a owl:Class ; PMID:8782054, PMID:9098480, PMID:9182765 ; - oboInOwl:hasDbXref UMLS:C0008928, - UMLS:C1838416, - UMLS:C1861516 ; oboInOwl:hasExactSynonym "CCD", "cleidocranial dysostosis", "cleidocranial dysplasia", "cleidocranial dysplasia, forme fruste, dental anomalies only", "cleidocranial dysplasia, forme fruste, with brachydactyly" ; + skos:exactMatch UMLS:C0008928, + UMLS:C1838416, + UMLS:C1861516 ; biolink:category biolink:Disease . OMIM:119650 a owl:Class ; rdfs:label "cleidorhizomelic syndrome" ; IAO:0000142 PMID:3239579 ; - oboInOwl:hasDbXref UMLS:C1861515 ; - oboInOwl:hasExactSynonym "cleidorhizomelic syndrome" . + oboInOwl:hasExactSynonym "cleidorhizomelic syndrome" ; + skos:exactMatch UMLS:C1861515 . OMIM:119800 a owl:Class ; rdfs:label "clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly" ; @@ -15125,9 +15480,9 @@ OMIM:119800 a owl:Class ; PMID:5391957, PMID:5830000, PMID:5889122 ; - oboInOwl:hasDbXref UMLS:C0009081 ; oboInOwl:hasExactSynonym "CCF", "clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly" ; + skos:exactMatch UMLS:C0009081 ; biolink:category biolink:Disease . OMIM:119900 a owl:Class ; @@ -15139,12 +15494,12 @@ OMIM:119900 a owl:Class ; PMID:20320148, PMID:20769632, PMID:704851 ; - oboInOwl:hasDbXref UMLS:C0345408, - ORPHA:217059 ; oboInOwl:hasExactSynonym "DIGC", "acropachy, hereditary", "clubbing of digits", "digital clubbing, isolated congenital" ; + skos:exactMatch UMLS:C0345408, + ORPHA:217059 ; biolink:category biolink:Disease . OMIM:119915 a owl:Class ; @@ -15158,8 +15513,8 @@ OMIM:119915 a owl:Class ; PMID:16554494, PMID:16801656, PMID:8825923 ; - oboInOwl:hasDbXref UMLS:C1861513 ; oboInOwl:hasExactSynonym "cluster headache, familial" ; + skos:exactMatch UMLS:C1861513 ; biolink:category biolink:Disease . OMIM:120000 a owl:Class ; @@ -15171,16 +15526,16 @@ OMIM:120000 a owl:Class ; PMID:15712195, PMID:4061317, PMID:8487284 ; - oboInOwl:hasDbXref UMLS:C0003492 ; - oboInOwl:hasExactSynonym "coarctation of aorta" . + oboInOwl:hasExactSynonym "coarctation of aorta" ; + skos:exactMatch UMLS:C0003492 . OMIM:120040 a owl:Class ; rdfs:label "cochleosaccular degeneration with progressive cataracts" ; IAO:0000142 PMID:1623624, PMID:7121157, PMID:9915977 ; - oboInOwl:hasDbXref UMLS:C1861512 ; - oboInOwl:hasExactSynonym "cochleosaccular degeneration with progressive cataracts" . + oboInOwl:hasExactSynonym "cochleosaccular degeneration with progressive cataracts" ; + skos:exactMatch UMLS:C1861512 . OMIM:120070 a owl:Class ; rdfs:label "COL4A3" ; @@ -15229,10 +15584,6 @@ OMIM:120070 a owl:Class ; PMID:9647515 ; RO:0002525 CHR:9606chr2q36.3 ; RO:0003303 OMIM:141200 ; - oboInOwl:hasDbXref UMLS:C0241908, - UMLS:C1332774, - UMLS:C4746547, - UMLS:C4746745 ; oboInOwl:hasExactSynonym "COL4A3", "collagen of basement membrane, alpha-3 chain", "collagen, iia iv, alpha-3", @@ -15240,16 +15591,21 @@ OMIM:120070 a owl:Class ; "tumstatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1285 ; - skos:exactMatch HGNC_symbol:COL4A3 ; + skos:exactMatch UMLS:C0241908, + UMLS:C1332774, + UMLS:C4746547, + UMLS:C4746745, + HGNC:2204, + HGNC_symbol:COL4A3 ; biolink:category biolink:Gene . OMIM:120080 a owl:Class ; rdfs:label "colchicine resistance" ; IAO:0000142 PMID:7129432, PMID:7188928 ; - oboInOwl:hasDbXref UMLS:C1861502 ; oboInOwl:hasExactSynonym "colchicine resistance", "colchicine sensitivity" ; + skos:exactMatch UMLS:C1861502 ; biolink:category biolink:Disease . OMIM:120090 a owl:Class ; @@ -15269,13 +15625,14 @@ OMIM:120090 a owl:Class ; PMID:7744753 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:614519 ; - oboInOwl:hasDbXref UMLS:C1413583 ; oboInOwl:hasExactSynonym "COL4A2", "collagen of basement membrane, alpha-2 chain", "collagen, iia iv, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1284 ; - skos:exactMatch HGNC_symbol:COL4A2 ; + skos:exactMatch UMLS:C1413583, + HGNC:2203, + HGNC_symbol:COL4A2 ; biolink:category biolink:Gene . OMIM:120100 a owl:Class ; @@ -15296,8 +15653,6 @@ OMIM:120100 a owl:Class ; PMID:8403471, PMID:8447672, PMID:874083 ; - oboInOwl:hasDbXref UMLS:C0343068, - UMLS:C4551895 ; oboInOwl:hasExactSynonym "FCAS1", "cold hypersensitivity", "cold urticaria, familial", @@ -15306,6 +15661,8 @@ OMIM:120100 a owl:Class ; "familial cold autoinflammatory syndrome 1", "fcas" ; rdfs:subClassOf OMIMPS:120100 ; + skos:exactMatch UMLS:C0343068, + UMLS:C4551895 ; biolink:category biolink:Disease . OMIM:120105 a owl:Class ; @@ -15313,12 +15670,13 @@ OMIM:120105 a owl:Class ; IAO:0000142 PMID:16421573, PMID:1643046, PMID:2045105 ; - oboInOwl:hasDbXref UMLS:C1413505 ; oboInOwl:hasExactSynonym "CLPS", "colipase, pancreatic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1208 ; - skos:exactMatch HGNC_symbol:CLPS ; + skos:exactMatch UMLS:C1413505, + HGNC:2085, + HGNC_symbol:CLPS ; biolink:category biolink:Gene . OMIM:120110 a owl:Class ; @@ -15362,12 +15720,13 @@ OMIM:120110 a owl:Class ; PMID:9920912 ; RO:0002525 CHR:9606chr6q22.1 ; RO:0003303 OMIM:156500 ; - oboInOwl:hasDbXref UMLS:C1413569 ; oboInOwl:hasExactSynonym "COL10A1", "collagen, iia x, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1300 ; - skos:exactMatch HGNC_symbol:COL10A1 ; + skos:exactMatch UMLS:C1413569, + HGNC:2185, + HGNC_symbol:COL10A1 ; biolink:category biolink:Gene . OMIM:120120 a owl:Class ; @@ -15436,14 +15795,15 @@ OMIM:120120 a owl:Class ; PMID:9892921 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:131705 ; - oboInOwl:hasDbXref UMLS:C1413592 ; oboInOwl:hasExactSynonym "COL7A1", "collagen, iia vii, alpha-1", "lc collagen", "long-chain collagen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1294 ; - skos:exactMatch HGNC_symbol:COL7A1 ; + skos:exactMatch UMLS:C1413592, + HGNC:2214, + HGNC_symbol:COL7A1 ; biolink:category biolink:Gene . OMIM:120130 a owl:Class ; @@ -15504,20 +15864,21 @@ OMIM:120130 a owl:Class ; PMID:906807 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:614519 ; - oboInOwl:hasDbXref UMLS:C1413582, - UMLS:C1867327, - UMLS:C2673195, - UMLS:C3281105, - UMLS:C5193157, - UMLS:C5193158, - UMLS:C5231411 ; oboInOwl:hasExactSynonym "COL4A1", "arresten", "collagen of basement membrane, alpha-1 chain", "collagen, iia iv, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1282 ; - skos:exactMatch HGNC_symbol:COL4A1 ; + skos:exactMatch UMLS:C1413582, + UMLS:C1867327, + UMLS:C2673195, + UMLS:C3281105, + UMLS:C5193157, + UMLS:C5193158, + UMLS:C5231411, + HGNC:2202, + HGNC_symbol:COL4A1 ; biolink:category biolink:Gene . OMIM:120131 a owl:Class ; @@ -15539,13 +15900,14 @@ OMIM:120131 a owl:Class ; PMID:9792860 ; RO:0002525 CHR:9606chr2q36.3 ; RO:0003303 OMIM:141200 ; - oboInOwl:hasDbXref UMLS:C1413585 ; oboInOwl:hasExactSynonym "COL4A4", "collagen of basement membrane, alpha-4 chain", "collagen, iia iv, alpha-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1286 ; - skos:exactMatch HGNC_symbol:COL4A4 ; + skos:exactMatch UMLS:C1413585, + HGNC:2206, + HGNC_symbol:COL4A4 ; biolink:category biolink:Gene . OMIM:120150 a owl:Class ; @@ -15690,7 +16052,13 @@ OMIM:120150 a owl:Class ; PMID:9535665 ; RO:0002525 CHR:9606chr17q21.33 ; RO:0003303 OMIM:166710 ; - oboInOwl:hasDbXref UMLS:C0020497, + oboInOwl:hasExactSynonym "COL1A1", + "col1a1/pdgfb fusion gene", + "collagen of skin, tendon, and bone, alpha-1 chain", + "collagen, iia i, alpha-1" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:1277 ; + skos:exactMatch UMLS:C0020497, UMLS:C0023931, UMLS:C0029434, UMLS:C0268358, @@ -15704,14 +16072,9 @@ OMIM:120150 a owl:Class ; UMLS:C4015952, UMLS:C4225429, UMLS:C4551623, - UMLS:C5436842 ; - oboInOwl:hasExactSynonym "COL1A1", - "col1a1/pdgfb fusion gene", - "collagen of skin, tendon, and bone, alpha-1 chain", - "collagen, iia i, alpha-1" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:1277 ; - skos:exactMatch HGNC_symbol:COL1A1 ; + UMLS:C5436842, + HGNC:2197, + HGNC_symbol:COL1A1 ; biolink:category biolink:Gene . OMIM:120160 a owl:Class ; @@ -15822,7 +16185,12 @@ OMIM:120160 a owl:Class ; PMID:9923651 ; RO:0002525 CHR:9606chr7q21.3 ; RO:0003303 OMIM:166710 ; - oboInOwl:hasDbXref UMLS:C0029458, + oboInOwl:hasExactSynonym "COL1A2", + "collagen of skin, tendon, and bone, alpha-2 chain", + "collagen, iia i, alpha-2" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:1278 ; + skos:exactMatch UMLS:C0029458, UMLS:C0268358, UMLS:C0268362, UMLS:C0268363, @@ -15833,13 +16201,9 @@ OMIM:120160 a owl:Class ; UMLS:C4303789, UMLS:C4310980, UMLS:C4310981, - UMLS:C5436847 ; - oboInOwl:hasExactSynonym "COL1A2", - "collagen of skin, tendon, and bone, alpha-2 chain", - "collagen, iia i, alpha-2" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:1278 ; - skos:exactMatch HGNC_symbol:COL1A2 ; + UMLS:C5436847, + HGNC:2198, + HGNC_symbol:COL1A2 ; biolink:category biolink:Gene . OMIM:120170 a owl:Class ; @@ -15916,14 +16280,15 @@ OMIM:120180 a owl:Class ; PMID:9712532 ; RO:0002525 CHR:9606chr2q32.2 ; RO:0003303 OMIM:618343 ; - oboInOwl:hasDbXref UMLS:C1413581 ; oboInOwl:hasExactSynonym "COL3A1", "collagen, iia iii, alpha-1", "collagen, blood vessel", "collagen, fetal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1281 ; - skos:exactMatch HGNC_symbol:COL3A1 ; + skos:exactMatch UMLS:C1413581, + HGNC:2201, + HGNC_symbol:COL3A1 ; biolink:category biolink:Gene . OMIM:120200 a owl:Class ; @@ -15941,10 +16306,10 @@ OMIM:120200 a owl:Class ; PMID:7282780, PMID:8556825, PMID:9259960 ; - oboInOwl:hasDbXref UMLS:C0009363 ; oboInOwl:hasExactSynonym "coloboma of iris, choroid, and retina", "coloboma, ocular, autosomal dominant", "coloboma, uveoretinal" ; + skos:exactMatch UMLS:C0009363 ; biolink:category biolink:Disease . OMIM:120210 a owl:Class ; @@ -15968,7 +16333,6 @@ OMIM:120210 a owl:Class ; PMID:9252382 ; RO:0002525 CHR:9606chr6q13 ; RO:0003303 OMIM:614134 ; - oboInOwl:hasDbXref UMLS:C1413595 ; oboInOwl:hasExactSynonym "COL9A1", "alpha-1(ix) collagen chain", "cartilage-specific short collagen", @@ -15976,7 +16340,9 @@ OMIM:120210 a owl:Class ; "collagen, cartilage-specific short" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1297 ; - skos:exactMatch HGNC_symbol:COL9A1 ; + skos:exactMatch UMLS:C1413595, + HGNC:2217, + HGNC_symbol:COL9A1 ; biolink:category biolink:Gene . OMIM:120215 a owl:Class ; @@ -16004,23 +16370,25 @@ OMIM:120215 a owl:Class ; PMID:9683580 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:619329 ; - oboInOwl:hasDbXref UMLS:C1413587 ; oboInOwl:hasExactSynonym "COL5A1", "collagen, iia v, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1289 ; - skos:exactMatch HGNC_symbol:COL5A1 ; + skos:exactMatch UMLS:C1413587, + HGNC:2209, + HGNC_symbol:COL5A1 ; biolink:category biolink:Gene . OMIM:120216 a owl:Class ; rdfs:label "COL5A3" ; IAO:0000142 PMID:10722718 ; - oboInOwl:hasDbXref UMLS:C1423007 ; oboInOwl:hasExactSynonym "COL5A3", "collagen, iia v, alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50509 ; - skos:exactMatch HGNC_symbol:COL5A3 ; + skos:exactMatch UMLS:C1423007, + HGNC:14864, + HGNC_symbol:COL5A3 ; biolink:category biolink:Gene . OMIM:120220 a owl:Class ; @@ -16068,14 +16436,15 @@ OMIM:120220 a owl:Class ; PMID:9817932 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:254090 ; - oboInOwl:hasDbXref UMLS:C1413589 ; oboInOwl:hasExactSynonym "COL6A1", "collagen, iia vi, alpha-1", "collagen, intimal", "short-chain collagen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1291 ; - skos:exactMatch HGNC_symbol:COL6A1 ; + skos:exactMatch UMLS:C1413589, + HGNC:2211, + HGNC_symbol:COL6A1 ; biolink:category biolink:Gene . OMIM:120240 a owl:Class ; @@ -16104,12 +16473,13 @@ OMIM:120240 a owl:Class ; PMID:9520112 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:254090 ; - oboInOwl:hasDbXref UMLS:C1413590 ; oboInOwl:hasExactSynonym "COL6A2", "collagen, iia vi, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1292 ; - skos:exactMatch HGNC_symbol:COL6A2 ; + skos:exactMatch UMLS:C1413590, + HGNC:2212, + HGNC_symbol:COL6A2 ; biolink:category biolink:Gene . OMIM:120250 a owl:Class ; @@ -16129,12 +16499,13 @@ OMIM:120250 a owl:Class ; PMID:9536084 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:254090 ; - oboInOwl:hasDbXref UMLS:C1413591 ; oboInOwl:hasExactSynonym "COL6A3", "collagen, iia vi, alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1293 ; - skos:exactMatch HGNC_symbol:COL6A3 ; + skos:exactMatch UMLS:C1413591, + HGNC:2213, + HGNC_symbol:COL6A3 ; biolink:category biolink:Gene . OMIM:120251 a owl:Class ; @@ -16142,12 +16513,13 @@ OMIM:120251 a owl:Class ; IAO:0000142 PMID:1499564, PMID:2029894, PMID:2476437 ; - oboInOwl:hasDbXref UMLS:C1413593 ; oboInOwl:hasExactSynonym "COL8A1", "collagen, iia viii, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1295 ; - skos:exactMatch HGNC_symbol:COL8A1 ; + skos:exactMatch UMLS:C1413593, + HGNC:2215, + HGNC_symbol:COL8A1 ; biolink:category biolink:Gene . OMIM:120252 a owl:Class ; @@ -16164,12 +16536,13 @@ OMIM:120252 a owl:Class ; PMID:399801 ; RO:0002525 CHR:9606chr1p34.3 ; RO:0003303 OMIM:609140 ; - oboInOwl:hasDbXref UMLS:C1413594 ; oboInOwl:hasExactSynonym "COL8A2", "collagen, iia viii, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1296 ; - skos:exactMatch HGNC_symbol:COL8A2 ; + skos:exactMatch UMLS:C1413594, + HGNC:2216, + HGNC_symbol:COL8A2 ; biolink:category biolink:Gene . OMIM:120260 a owl:Class ; @@ -16188,12 +16561,13 @@ OMIM:120260 a owl:Class ; PMID:8528240 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:600204 ; - oboInOwl:hasDbXref UMLS:C1413596 ; oboInOwl:hasExactSynonym "COL9A2", "collagen, iia ix, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1298 ; - skos:exactMatch HGNC_symbol:COL9A2 ; + skos:exactMatch UMLS:C1413596, + HGNC:2218, + HGNC_symbol:COL9A2 ; biolink:category biolink:Gene . OMIM:120270 a owl:Class ; @@ -16209,12 +16583,13 @@ OMIM:120270 a owl:Class ; PMID:9730604 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:603932 ; - oboInOwl:hasDbXref UMLS:C1413597 ; oboInOwl:hasExactSynonym "COL9A3", "collagen, iia ix, alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1299 ; - skos:exactMatch HGNC_symbol:COL9A3 ; + skos:exactMatch UMLS:C1413597, + HGNC:2219, + HGNC_symbol:COL9A3 ; biolink:category biolink:Gene . OMIM:120280 a owl:Class ; @@ -16246,12 +16621,13 @@ OMIM:120280 a owl:Class ; PMID:9792885 ; RO:0002525 CHR:9606chr1p21.1 ; RO:0003303 OMIM:603932 ; - oboInOwl:hasDbXref UMLS:C1413570 ; oboInOwl:hasExactSynonym "COL11A1", "collagen, iia xi, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1301 ; - skos:exactMatch HGNC_symbol:COL11A1 ; + skos:exactMatch UMLS:C1413570, + HGNC:2186, + HGNC_symbol:COL11A1 ; biolink:category biolink:Gene . OMIM:120290 a owl:Class ; @@ -16282,21 +16658,22 @@ OMIM:120290 a owl:Class ; PMID:9805126 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:215150 ; - oboInOwl:hasDbXref UMLS:C1413571 ; oboInOwl:hasExactSynonym "COL11A2", "collagen, iia xi, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1302 ; - skos:exactMatch HGNC_symbol:COL11A2 ; + skos:exactMatch UMLS:C1413571, + HGNC:2187, + HGNC_symbol:COL11A2 ; biolink:category biolink:Gene . OMIM:120300 a owl:Class ; rdfs:label "coloboma of macula" ; IAO:0000142 PMID:19986141, PMID:4992343 ; - oboInOwl:hasDbXref UMLS:C1852767 ; oboInOwl:hasExactSynonym "agenesis of macula", "coloboma of macula" ; + skos:exactMatch UMLS:C1852767 ; biolink:category biolink:Disease . OMIM:120310 a owl:Class ; @@ -16323,12 +16700,13 @@ OMIM:120325 a owl:Class ; PMID:9176399, PMID:9339358, PMID:9651385 ; - oboInOwl:hasDbXref UMLS:C1413575 ; oboInOwl:hasExactSynonym "COL15A1", "collagen, iia xv, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1306 ; - skos:exactMatch HGNC_symbol:COL15A1 ; + skos:exactMatch UMLS:C1413575, + HGNC:2192, + HGNC_symbol:COL15A1 ; biolink:category biolink:Gene . OMIM:120326 a owl:Class ; @@ -16336,12 +16714,13 @@ OMIM:120326 a owl:Class ; IAO:0000142 PMID:11709013, PMID:1284248, PMID:1631157 ; - oboInOwl:hasDbXref UMLS:C1413576 ; oboInOwl:hasExactSynonym "COL16A1", "collagen, iia xvi, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1307 ; - skos:exactMatch HGNC_symbol:COL16A1 ; + skos:exactMatch UMLS:C1413576, + HGNC:2193, + HGNC_symbol:COL16A1 ; biolink:category biolink:Gene . OMIM:120327 a owl:Class ; @@ -16379,27 +16758,29 @@ OMIM:120328 a owl:Class ; PMID:9503365 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:267750 ; - oboInOwl:hasDbXref UMLS:C1332771, - UMLS:C4551775, - UMLS:C5394374 ; oboInOwl:hasExactSynonym "COL18A1", "collagen, iia xviii, alpha-1", "endostatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80781 ; - skos:exactMatch HGNC_symbol:COL18A1 ; + skos:exactMatch UMLS:C1332771, + UMLS:C4551775, + UMLS:C5394374, + HGNC:2195, + HGNC_symbol:COL18A1 ; biolink:category biolink:Gene . OMIM:120340 a owl:Class ; rdfs:label "COL1AR" ; IAO:0000142 PMID:2840666 ; - oboInOwl:hasDbXref UMLS:C1413579 ; oboInOwl:hasExactSynonym "COL1AR", "collagen receptor", "collagen, iia i, alpha, receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1279 ; - skos:exactMatch HGNC_symbol:COL1AR ; + skos:exactMatch UMLS:C1413579, + HGNC:2199, + HGNC_symbol:COL1AR ; biolink:category biolink:Gene . OMIM:120350 a owl:Class ; @@ -16414,12 +16795,13 @@ OMIM:120350 a owl:Class ; PMID:9417920 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:616720 ; - oboInOwl:hasDbXref UMLS:C1413573 ; oboInOwl:hasExactSynonym "COL13A1", "collagen, iia xiii, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1305 ; - skos:exactMatch HGNC_symbol:COL13A1 ; + skos:exactMatch UMLS:C1413573, + HGNC:2190, + HGNC_symbol:COL13A1 ; biolink:category biolink:Gene . OMIM:120353 a owl:Class ; @@ -16441,14 +16823,15 @@ OMIM:120353 a owl:Class ; PMID:9850057 ; RO:0002525 CHR:9606chr11q22.2 ; RO:0003303 OMIM:226600 ; - oboInOwl:hasDbXref UMLS:C1417199 ; oboInOwl:hasExactSynonym "MMP1", "collagenase, fibroblast", "collagenase, interstitial", "matrix metalloproteinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4312 ; - skos:exactMatch HGNC_symbol:MMP1 ; + skos:exactMatch UMLS:C1417199, + HGNC:7155, + HGNC_symbol:MMP1 ; biolink:category biolink:Gene . OMIM:120355 a owl:Class ; @@ -16460,13 +16843,14 @@ OMIM:120355 a owl:Class ; PMID:19330028, PMID:2164002, PMID:8921407 ; - oboInOwl:hasDbXref UMLS:C1417213 ; oboInOwl:hasExactSynonym "MMP8", "collagenase i, neutrophil", "matrix metalloproteinase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4317 ; - skos:exactMatch HGNC_symbol:MMP8 ; + skos:exactMatch UMLS:C1417213, + HGNC:7175, + HGNC_symbol:MMP8 ; biolink:category biolink:Gene . OMIM:120360 a owl:Class ; @@ -16509,8 +16893,6 @@ OMIM:120360 a owl:Class ; PMID:9500469 ; RO:0002525 CHR:9606chr16q12.2 ; RO:0003303 OMIM:259600 ; - oboInOwl:hasDbXref UMLS:C1334522, - UMLS:C1850155 ; oboInOwl:hasExactSynonym "MMP2", "collagenase iia iv, 72-kd", "collagenase iia iv-a", @@ -16520,7 +16902,10 @@ OMIM:120360 a owl:Class ; "matrix metalloproteinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4313 ; - skos:exactMatch HGNC_symbol:MMP2 ; + skos:exactMatch UMLS:C1334522, + UMLS:C1850155, + HGNC:7166, + HGNC_symbol:MMP2 ; biolink:category biolink:Gene . OMIM:120361 a owl:Class ; @@ -16574,7 +16959,6 @@ OMIM:120361 a owl:Class ; PMID:9590175 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:613073 ; - oboInOwl:hasDbXref UMLS:C1334523 ; oboInOwl:hasExactSynonym "MMP9", "collagenase iia 5", "collagenase iia iv, 92-kd", @@ -16584,7 +16968,9 @@ OMIM:120361 a owl:Class ; "matrix metalloproteinase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4318 ; - skos:exactMatch HGNC_symbol:MMP9 ; + skos:exactMatch UMLS:C1334523, + HGNC:7176, + HGNC_symbol:MMP9 ; biolink:category biolink:Gene . OMIM:120400 a owl:Class ; @@ -16594,10 +16980,10 @@ OMIM:120400 a owl:Class ; PMID:3385739, PMID:4977272, PMID:7395916 ; - oboInOwl:hasDbXref UMLS:C1852752 ; oboInOwl:hasExactSynonym "apical dystrophy", "coloboma of macula with iia B brachydactyly", - "sorsby syndrome" . + "sorsby syndrome" ; + skos:exactMatch UMLS:C1852752 . OMIM:120420 a owl:Class ; rdfs:label "CSF1" ; @@ -16623,13 +17009,14 @@ OMIM:120420 a owl:Class ; PMID:7667279, PMID:9137093, PMID:9637704 ; - oboInOwl:hasDbXref UMLS:C1332789 ; oboInOwl:hasExactSynonym "CSF1", "colony-stimulating factor 1", "colony-stimulating factor, macrophage-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1435 ; - skos:exactMatch HGNC_symbol:CSF1 ; + skos:exactMatch UMLS:C1332789, + HGNC:2432, + HGNC_symbol:CSF1 ; biolink:category biolink:Gene . OMIM:120430 a owl:Class ; @@ -16638,11 +17025,11 @@ OMIM:120430 a owl:Class ; PMID:12721955, PMID:9402835, PMID:945057 ; - oboInOwl:hasDbXref UMLS:C0155299, - UMLS:C3554721 ; oboInOwl:hasExactSynonym "coloboma of optic nerve", "morning glory disc anomaly", "optic nerve head pits, bilateral congenital" ; + skos:exactMatch UMLS:C0155299, + UMLS:C3554721 ; biolink:category biolink:Disease . OMIM:120436 a owl:Class ; @@ -16736,25 +17123,26 @@ OMIM:120436 a owl:Class ; PMID:9927034 ; RO:0002525 CHR:9606chr3p22.2 ; RO:0003303 OMIM:158320 ; - oboInOwl:hasDbXref UMLS:C0879389, - UMLS:C1321489, - UMLS:C1333991, - UMLS:C4015968, - UMLS:C4015969, - UMLS:C5399763 ; oboInOwl:hasExactSynonym "DNA mismatch repair protein mlh1", "MLH1", "mutl, e. coli, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4292 ; - skos:exactMatch HGNC_symbol:MLH1 ; + skos:exactMatch UMLS:C0879389, + UMLS:C1321489, + UMLS:C1333991, + UMLS:C4015968, + UMLS:C4015969, + UMLS:C5399763, + HGNC:7127, + HGNC_symbol:MLH1 ; biolink:category biolink:Gene . OMIM:120440 a owl:Class ; rdfs:label "colonic varices without portal hypertension" ; IAO:0000142 PMID:4016500 ; - oboInOwl:hasDbXref UMLS:C1852721 ; - oboInOwl:hasExactSynonym "colonic varices without portal hypertension" . + oboInOwl:hasExactSynonym "colonic varices without portal hypertension" ; + skos:exactMatch UMLS:C1852721 . OMIM:120450 a owl:Class ; rdfs:label "comedones, familial dyskeratotic" ; @@ -16762,8 +17150,8 @@ OMIM:120450 a owl:Class ; PMID:3316319, PMID:5060870, PMID:7105484 ; - oboInOwl:hasDbXref UMLS:C0345424 ; oboInOwl:hasExactSynonym "comedones, familial dyskeratotic" ; + skos:exactMatch UMLS:C0345424 ; biolink:category biolink:Disease . OMIM:120460 a owl:Class ; @@ -16820,7 +17208,6 @@ OMIM:120470 a owl:Class ; PMID:9796814 ; RO:0002525 CHR:9606chr18q21.2 ; RO:0003303 OMIM:157600 ; - oboInOwl:hasDbXref UMLS:C0079414 ; oboInOwl:hasExactSynonym "DCC", "colorectal cancer-related chromosome sequence 18", "crcr1", @@ -16829,14 +17216,16 @@ OMIM:120470 a owl:Class ; "netrin receptor dcc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1630 ; - skos:exactMatch HGNC_symbol:DCC ; + skos:exactMatch UMLS:C0079414, + HGNC:2701, + HGNC_symbol:DCC ; biolink:category biolink:Gene . OMIM:120500 a owl:Class ; rdfs:label "commissural 51p pits" ; IAO:0000142 PMID:5215910 ; - oboInOwl:hasDbXref UMLS:C0399605 ; - oboInOwl:hasExactSynonym "commissural 51p pits" . + oboInOwl:hasExactSynonym "commissural 51p pits" ; + skos:exactMatch UMLS:C0399605 . OMIM:120550 a owl:Class ; rdfs:label "C1QA" ; @@ -16860,7 +17249,6 @@ OMIM:120550 a owl:Class ; PMID:9590289 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:613652 ; - oboInOwl:hasDbXref UMLS:C1412931 ; oboInOwl:hasExactSynonym "C1QA", "complement component 1, q subcomponent, a chain", "complement component 1, q subcomponent, alpha polypeptide", @@ -16868,15 +17256,17 @@ OMIM:120550 a owl:Class ; "serum c1q" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:712 ; - skos:exactMatch HGNC_symbol:C1QA ; + skos:exactMatch UMLS:C1412931, + HGNC:1241, + HGNC_symbol:C1QA ; biolink:category biolink:Gene . OMIM:120560 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:6973093 ; - oboInOwl:hasDbXref UMLS:C1852716 ; oboInOwl:hasExactSynonym "complement component c1q, fibroblast iia" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1852716 ; biolink:category biolink:Gene . OMIM:120570 a owl:Class ; @@ -16892,14 +17282,15 @@ OMIM:120570 a owl:Class ; PMID:513085 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:613652 ; - oboInOwl:hasDbXref UMLS:C1412932 ; oboInOwl:hasExactSynonym "C1QB", "complement component 1, q subcomponent, B chain", "complement component 1, q subcomponent, beta polypeptide", "complement component c1q, B chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:713 ; - skos:exactMatch HGNC_symbol:C1QB ; + skos:exactMatch UMLS:C1412932, + HGNC:1242, + HGNC_symbol:C1QB ; biolink:category biolink:Gene . OMIM:120575 a owl:Class ; @@ -16916,14 +17307,15 @@ OMIM:120575 a owl:Class ; PMID:8630118 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:613652 ; - oboInOwl:hasDbXref UMLS:C1823200 ; oboInOwl:hasExactSynonym "C1QC", "complement component 1, q subcomponent, c chain", "complement component 1, q subcomponent, gamma polypeptide", "complement component c1q, c chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:714 ; - skos:exactMatch HGNC_symbol:C1QC ; + skos:exactMatch UMLS:C1823200, + HGNC:1245, + HGNC_symbol:C1QC ; biolink:category biolink:Gene . OMIM:120577 a owl:Class ; @@ -16939,7 +17331,6 @@ OMIM:120577 a owl:Class ; PMID:8478019, PMID:9047234, PMID:9469455 ; - oboInOwl:hasDbXref UMLS:C1824672 ; oboInOwl:hasExactSynonym "C1QR1", "cd93 antigen", "collectin receptor", @@ -16947,7 +17338,9 @@ OMIM:120577 a owl:Class ; "complement component 1q receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22918 ; - skos:exactMatch HGNC_symbol:CD93 ; + skos:exactMatch UMLS:C1824672, + HGNC:15855, + HGNC_symbol:CD93 ; biolink:category biolink:Gene . OMIM:120580 a owl:Class ; @@ -16961,13 +17354,14 @@ OMIM:120580 a owl:Class ; PMID:9856483 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:617174 ; - oboInOwl:hasDbXref UMLS:C1412937 ; oboInOwl:hasExactSynonym "C1S", "complement component 1, s subcomponent", "complement component c1s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:716 ; - skos:exactMatch HGNC_symbol:C1S ; + skos:exactMatch UMLS:C1412937, + HGNC:1247, + HGNC_symbol:C1S ; biolink:category biolink:Gene . OMIM:120620 a owl:Class ; @@ -17005,8 +17399,6 @@ OMIM:120620 a owl:Class ; PMID:9230440 ; RO:0002525 CHR:9606chr1q32.2 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1413694, - UMLS:C1970030 ; oboInOwl:hasExactSynonym "CR1", "c3-binding protein", "c3br", @@ -17016,7 +17408,10 @@ OMIM:120620 a owl:Class ; "complement component receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1378 ; - skos:exactMatch HGNC_symbol:CR1 ; + skos:exactMatch UMLS:C1413694, + UMLS:C1970030, + HGNC:2334, + HGNC_symbol:CR1 ; biolink:category biolink:Gene . OMIM:120650 a owl:Class ; @@ -17036,7 +17431,6 @@ OMIM:120650 a owl:Class ; PMID:6230668 ; RO:0002525 CHR:9606chr1q32.2 ; RO:0003303 OMIM:610927 ; - oboInOwl:hasDbXref UMLS:C1413696 ; oboInOwl:hasExactSynonym "CR2", "cd21", "complement component 3d receptor", @@ -17045,7 +17439,9 @@ OMIM:120650 a owl:Class ; "epstein-barr virus receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1380 ; - skos:exactMatch HGNC_symbol:CR2 ; + skos:exactMatch UMLS:C1413696, + HGNC:2336, + HGNC_symbol:CR2 ; biolink:category biolink:Gene . OMIM:120700 a owl:Class ; @@ -17121,12 +17517,6 @@ OMIM:120700 a owl:Class ; PMID:975893 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:611378 ; - oboInOwl:hasDbXref UMLS:C1332655, - UMLS:C1332656, - UMLS:C2752037, - UMLS:C4015971, - UMLS:C4015972, - UMLS:C4017429 ; oboInOwl:hasExactSynonym "C3", "acylation-stimulating protein", "c3a", @@ -17136,7 +17526,14 @@ OMIM:120700 a owl:Class ; "complement component 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:718 ; - skos:exactMatch HGNC_symbol:C3 ; + skos:exactMatch UMLS:C1332655, + UMLS:C1332656, + UMLS:C2752037, + UMLS:C4015971, + UMLS:C4015972, + UMLS:C4017429, + HGNC:1318, + HGNC_symbol:C3 ; biolink:category biolink:Gene . OMIM:120810 a owl:Class ; @@ -17194,8 +17591,6 @@ OMIM:120810 a owl:Class ; PMID:968900 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:614374 ; - oboInOwl:hasDbXref UMLS:C1412999, - UMLS:C3280642 ; oboInOwl:hasExactSynonym "C4A", "acidic c4", "c4, rodgers form", @@ -17204,7 +17599,10 @@ OMIM:120810 a owl:Class ; "slp, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:720 ; - skos:exactMatch HGNC_symbol:C4A ; + skos:exactMatch UMLS:C1412999, + UMLS:C3280642, + HGNC:1323, + HGNC_symbol:C4A ; biolink:category biolink:Gene . OMIM:120820 a owl:Class ; @@ -17275,7 +17673,6 @@ OMIM:120820 a owl:Class ; PMID:921824 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:614379 ; - oboInOwl:hasDbXref UMLS:C1413000 ; oboInOwl:hasExactSynonym "C4B", "basic c4", "c4, chido form", @@ -17283,7 +17680,9 @@ OMIM:120820 a owl:Class ; "complement component 4f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:721 ; - skos:exactMatch HGNC_symbol:C4B ; + skos:exactMatch UMLS:C1413000, + HGNC:1324, + HGNC_symbol:C4B ; biolink:category biolink:Gene . OMIM:120831 a owl:Class ; @@ -17294,12 +17693,13 @@ OMIM:120831 a owl:Class ; PMID:2970465, PMID:7959726, PMID:8325877 ; - oboInOwl:hasDbXref UMLS:C1413004 ; oboInOwl:hasExactSynonym "C4BPB", "complement component 4-binding protein, beta chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:725 ; - skos:exactMatch HGNC_symbol:C4BPB ; + skos:exactMatch UMLS:C1413004, + HGNC:1328, + HGNC_symbol:C4BPB ; biolink:category biolink:Gene . OMIM:120832 a owl:Class ; @@ -17316,13 +17716,14 @@ OMIM:120930 a owl:Class ; PMID:4063342, PMID:7829063, PMID:8865989 ; - oboInOwl:hasDbXref UMLS:C1413025 ; oboInOwl:hasExactSynonym "C8G", "c8c", "complement component 8, gamma subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:733 ; - skos:exactMatch HGNC_symbol:C8G ; + skos:exactMatch UMLS:C1413025, + HGNC:1354, + HGNC_symbol:C8G ; biolink:category biolink:Gene . OMIM:120940 a owl:Class ; @@ -17346,12 +17747,13 @@ OMIM:120940 a owl:Class ; PMID:9703418 ; RO:0002525 CHR:9606chr5p13.1 ; RO:0003303 OMIM:615591 ; - oboInOwl:hasDbXref UMLS:C1413029 ; oboInOwl:hasExactSynonym "C9", "complement component 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:735 ; - skos:exactMatch HGNC_symbol:C9 ; + skos:exactMatch UMLS:C1413029, + HGNC:1358, + HGNC_symbol:C9 ; biolink:category biolink:Gene . OMIM:120950 a owl:Class ; @@ -17378,13 +17780,14 @@ OMIM:120950 a owl:Class ; PMID:9759902 ; RO:0002525 CHR:9606chr1p32.2 ; RO:0003303 OMIM:613790 ; - oboInOwl:hasDbXref UMLS:C1413023 ; oboInOwl:hasExactSynonym "C8A", "c8 alpha", "complement component 8, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:731 ; - skos:exactMatch HGNC_symbol:C8A ; + skos:exactMatch UMLS:C1413023, + HGNC:1352, + HGNC_symbol:C8A ; biolink:category biolink:Gene . OMIM:120960 a owl:Class ; @@ -17399,14 +17802,15 @@ OMIM:120960 a owl:Class ; PMID:8365729 ; RO:0002525 CHR:9606chr1p32.2 ; RO:0003303 OMIM:613789 ; - oboInOwl:hasDbXref UMLS:C1413024 ; oboInOwl:hasExactSynonym "C8B", "c8 beta", "complement component 8, beta subunit", "complement component c8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:732 ; - skos:exactMatch HGNC_symbol:C8B ; + skos:exactMatch UMLS:C1413024, + HGNC:1353, + HGNC_symbol:C8B ; biolink:category biolink:Gene . OMIM:120970 a owl:Class ; @@ -17422,13 +17826,13 @@ OMIM:120970 a owl:Class ; PMID:8508343, PMID:9390563, PMID:9610810 ; - oboInOwl:hasDbXref UMLS:C3489532 ; oboInOwl:hasExactSynonym "CORD2", "cone-rod dystrophy", "cone-rod dystrophy 2", "cone-rod retinal dystrophy", "retinal cone-rod dystrophy" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C3489532 ; biolink:category biolink:Disease . OMIM:120980 a owl:Class ; @@ -17443,7 +17847,6 @@ OMIM:120980 a owl:Class ; PMID:3284962, PMID:3539202, PMID:3887182 ; - oboInOwl:hasDbXref UMLS:C1366562 ; oboInOwl:hasExactSynonym "ITGAM", "cd11b", "complement receptor iia 3, alpha subunit", @@ -17452,7 +17855,9 @@ OMIM:120980 a owl:Class ; "mo1, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3684 ; - skos:exactMatch HGNC_symbol:ITGAM ; + skos:exactMatch UMLS:C1366562, + HGNC:6149, + HGNC_symbol:ITGAM ; biolink:category biolink:Gene . OMIM:121000 a owl:Class ; @@ -17468,14 +17873,15 @@ OMIM:121009 a owl:Class ; PMID:27811277, PMID:28183733, PMID:9371786 ; - oboInOwl:hasDbXref UMLS:C1413791 ; oboInOwl:hasExactSynonym "CCN2", "cellular communication network factor 2", "connective tissue growth factor", "insulin-like growth factor-binding protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1490 ; - skos:exactMatch HGNC_symbol:CCN2 ; + skos:exactMatch UMLS:C1413791, + HGNC:2500, + HGNC_symbol:CCN2 ; biolink:category biolink:Gene . OMIM:121010 a owl:Class ; @@ -17488,7 +17894,6 @@ OMIM:121010 a owl:Class ; PMID:1830861, PMID:4005226, PMID:6572368 ; - oboInOwl:hasDbXref UMLS:C1335239 ; oboInOwl:hasExactSynonym "PPBP", "beta-thromboglobulin", "connective tissue-activating peptide 3", @@ -17502,7 +17907,9 @@ OMIM:121010 a owl:Class ; "thromboglobulin, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5473 ; - skos:exactMatch HGNC_symbol:PPBP ; + skos:exactMatch UMLS:C1335239, + HGNC:9240, + HGNC_symbol:PPBP ; biolink:category biolink:Gene . OMIM:121011 a owl:Class ; @@ -17655,7 +18062,13 @@ OMIM:121011 a owl:Class ; PMID:9856479 ; RO:0002525 CHR:9606chr13q12.11 ; RO:0003303 OMIM:124500 ; - oboInOwl:hasDbXref UMLS:C0265336, + oboInOwl:hasExactSynonym "GJB2", + "connexin 26", + "gap junction protein, 26-kd", + "gap junction protein, beta-2" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:2706 ; + skos:exactMatch UMLS:C0265336, UMLS:C0265964, UMLS:C0266004, UMLS:C1415077, @@ -17665,14 +18078,9 @@ OMIM:121011 a owl:Class ; UMLS:C2673760, UMLS:C2673761, UMLS:C2675750, - UMLS:C5394556 ; - oboInOwl:hasExactSynonym "GJB2", - "connexin 26", - "gap junction protein, 26-kd", - "gap junction protein, beta-2" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:2706 ; - skos:exactMatch HGNC_symbol:GJB2 ; + UMLS:C5394556, + HGNC:4284, + HGNC_symbol:GJB2 ; biolink:category biolink:Gene . OMIM:121012 a owl:Class ; @@ -17687,14 +18095,15 @@ OMIM:121012 a owl:Class ; PMID:1964417, PMID:7680674, PMID:8586454 ; - oboInOwl:hasDbXref UMLS:C1415072 ; oboInOwl:hasExactSynonym "GJA4", "connexin 37", "gap junction protein, 37-kd", "gap junction protein, alpha-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2701 ; - skos:exactMatch HGNC_symbol:GJA4 ; + skos:exactMatch UMLS:C1415072, + HGNC:4278, + HGNC_symbol:GJA4 ; biolink:category biolink:Gene . OMIM:121013 a owl:Class ; @@ -17718,14 +18127,15 @@ OMIM:121013 a owl:Class ; PMID:9588401 ; RO:0002525 CHR:9606chr1q21.2 ; RO:0003303 OMIM:108770 ; - oboInOwl:hasDbXref UMLS:C1415073 ; oboInOwl:hasExactSynonym "GJA5", "connexin 40", "gap junction protein, 40-kd", "gap junction protein, alpha-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2702 ; - skos:exactMatch HGNC_symbol:GJA5 ; + skos:exactMatch UMLS:C1415073, + HGNC:4279, + HGNC_symbol:GJA5 ; biolink:category biolink:Gene . OMIM:121014 a owl:Class ; @@ -17797,7 +18207,6 @@ OMIM:121014 a owl:Class ; PMID:9486664 ; RO:0002525 CHR:9606chr6q22.31 ; RO:0003303 OMIM:186100 ; - oboInOwl:hasDbXref UMLS:C1415068 ; oboInOwl:hasExactSynonym "GJA1", "connexin 43", "gap junction protein, 43-kd", @@ -17805,7 +18214,9 @@ OMIM:121014 a owl:Class ; "heart connexin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2697 ; - skos:exactMatch HGNC_symbol:GJA1 ; + skos:exactMatch UMLS:C1415068, + HGNC:4274, + HGNC_symbol:GJA1 ; biolink:category biolink:Gene . OMIM:121015 a owl:Class ; @@ -17829,14 +18240,15 @@ OMIM:121015 a owl:Class ; PMID:9413992 ; RO:0002525 CHR:9606chr13q12.11 ; RO:0003303 OMIM:601885 ; - oboInOwl:hasDbXref UMLS:C1415071 ; oboInOwl:hasExactSynonym "GJA3", "connexin 46", "gap junction protein, 46-kd", "gap junction protein, alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2700 ; - skos:exactMatch HGNC_symbol:GJA3 ; + skos:exactMatch UMLS:C1415071, + HGNC:4277, + HGNC_symbol:GJA3 ; biolink:category biolink:Gene . OMIM:121020 a owl:Class ; @@ -17879,21 +18291,21 @@ OMIM:121050 a owl:Class ; PMID:8923935, PMID:9106527, PMID:9714438 ; - oboInOwl:hasDbXref UMLS:C0220668 ; oboInOwl:hasExactSynonym "CCA", "arthrogryposis, distal, iia 9", "beals syndrome", "contractural arachnodactyly, congenital" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C0220668 ; biolink:category biolink:Disease . OMIM:121070 a owl:Class ; rdfs:label "arthrogryposis, distal, iia 2e" ; IAO:0000142 PMID:1130329, PMID:7039311 ; - oboInOwl:hasDbXref UMLS:C1852597 ; oboInOwl:hasExactSynonym "arthrogryposis, distal, iia 2e", - "contractures of fingers and jaw" . + "contractures of fingers and jaw" ; + skos:exactMatch UMLS:C1852597 . OMIM:121250 a owl:Class ; IAO:0100001 OMIM:300088 ; @@ -17903,8 +18315,8 @@ OMIM:121270 a owl:Class ; rdfs:label "copper deficiency, familial benign" ; IAO:0000142 PMID:2978614, PMID:7125694 ; - oboInOwl:hasDbXref UMLS:C1852576 ; - oboInOwl:hasExactSynonym "copper deficiency, familial benign" . + oboInOwl:hasExactSynonym "copper deficiency, familial benign" ; + skos:exactMatch UMLS:C1852576 . OMIM:121300 a owl:Class ; rdfs:label "coproporphyria, hereditary" ; @@ -17932,20 +18344,20 @@ OMIM:121300 a owl:Class ; PMID:866576, PMID:871392, PMID:9454777 ; - oboInOwl:hasDbXref UMLS:C0162531, - ORPHA:79273 ; oboInOwl:hasExactSynonym "HCP", "coproporphyria, hereditary", "coproporphyrinogen oxidase deficiency", "cpo deficiency", "cpox deficiency", "cpx deficiency" ; + skos:exactMatch UMLS:C0162531, + ORPHA:79273 ; biolink:category biolink:Disease . OMIM:121350 a owl:Class ; rdfs:label "coracoclavicular joint, anomalous" ; - oboInOwl:hasDbXref UMLS:C1852561 ; - oboInOwl:hasExactSynonym "coracoclavicular joint, anomalous" . + oboInOwl:hasExactSynonym "coracoclavicular joint, anomalous" ; + skos:exactMatch UMLS:C1852561 . OMIM:121360 a owl:Class ; rdfs:label "CBFB" ; @@ -17963,30 +18375,31 @@ OMIM:121360 a owl:Class ; PMID:9751756 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:601626 ; - oboInOwl:hasDbXref UMLS:C1332671, - UMLS:C3276534 ; oboInOwl:hasExactSynonym "CBFB", "cbfb/myh11 fusion gene", "core-binding factor, beta subunit", "polyomavirus enhancer-binding protein 2-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:865 ; - skos:exactMatch HGNC_symbol:CBFB ; + skos:exactMatch UMLS:C1332671, + UMLS:C3276534, + HGNC:1539, + HGNC_symbol:CBFB ; biolink:category biolink:Gene . OMIM:121390 a owl:Class ; rdfs:label "cornea guttata with anterior polar cataracts" ; IAO:0000142 PMID:27484837, PMID:2757092 ; - oboInOwl:hasDbXref UMLS:C1852558 ; oboInOwl:hasExactSynonym "cornea guttata with anterior polar cataracts" ; + skos:exactMatch UMLS:C1852558 ; biolink:category biolink:Disease . OMIM:121450 a owl:Class ; rdfs:label "corneal degeneration, ribbonlike, with deafness" ; - oboInOwl:hasDbXref UMLS:C1852556 ; oboInOwl:hasExactSynonym "band keratopathy with deafness", - "corneal degeneration, ribbonlike, with deafness" . + "corneal degeneration, ribbonlike, with deafness" ; + skos:exactMatch UMLS:C1852556 . OMIM:121700 a owl:Class ; IAO:0100001 OMIM:122000 ; @@ -18002,14 +18415,14 @@ OMIM:121820 a owl:Class ; PMID:4547958, PMID:4547959, PMID:7260010 ; - oboInOwl:hasDbXref UMLS:C0521723, - ORPHA:98956 ; oboInOwl:hasExactSynonym "EBMD", "cogan corneal dystrophy", "corneal dystrophy, anterior basement membrane", "corneal dystrophy, epithelial basement membrane", "corneal dystrophy, map-dot-fingerprint iia", "corneal dystrophy, microcystic" ; + skos:exactMatch UMLS:C0521723, + ORPHA:98956 ; biolink:category biolink:Disease . OMIM:121900 a owl:Class ; @@ -18028,12 +18441,12 @@ OMIM:121900 a owl:Class ; PMID:8044658, PMID:8136834, PMID:9054935 ; - oboInOwl:hasDbXref UMLS:C1641846, - ORPHA:98962 ; oboInOwl:hasExactSynonym "CDGG1", "corneal dystrophy, groenouw iia 1", "corneal dystrophy, punctate or nodular", "granular corneal dystrophy, iia 1" ; + skos:exactMatch UMLS:C1641846, + ORPHA:98962 ; biolink:category biolink:Disease . OMIM:122200 a owl:Class ; @@ -18052,38 +18465,38 @@ OMIM:122200 a owl:Class ; PMID:6383050, PMID:8136834, PMID:9054935 ; - oboInOwl:hasDbXref UMLS:C1690006, - ORPHA:98964 ; oboInOwl:hasExactSynonym "CDL1", "corneal dystrophy, lattice iia 1", "lattice corneal dystrophy, iia 1", "lcd" ; + skos:exactMatch UMLS:C1690006, + ORPHA:98964 ; biolink:category biolink:Disease . OMIM:122430 a owl:Class ; rdfs:label "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation" ; IAO:0000142 PMID:18241069, PMID:2433942 ; - oboInOwl:hasDbXref UMLS:C2930866 ; oboInOwl:hasExactSynonym "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation", - "ramos-arroyo syndrome" . + "ramos-arroyo syndrome" ; + skos:exactMatch UMLS:C2930866 . OMIM:122440 a owl:Class ; rdfs:label "corneodermatoosseous syndrome" ; IAO:0000142 PMID:5311914, PMID:6234802 ; - oboInOwl:hasDbXref UMLS:C1852542 ; oboInOwl:hasExactSynonym "cdo syndrome", "corneal dystrophy, epithelial, with skin and skeletal changes", - "corneodermatoosseous syndrome" . + "corneodermatoosseous syndrome" ; + skos:exactMatch UMLS:C1852542 . OMIM:122450 a owl:Class ; rdfs:label "corneal hypesthesia, familial" ; IAO:0000142 PMID:2256843, PMID:444121 ; - oboInOwl:hasDbXref UMLS:C1852541 ; oboInOwl:hasExactSynonym "corneal hypesthesia, familial", "trigeminal anesthesia, familial" ; + skos:exactMatch UMLS:C1852541 ; biolink:category biolink:Disease . OMIM:122455 a owl:Class ; @@ -18091,8 +18504,8 @@ OMIM:122455 a owl:Class ; IAO:0000142 PMID:2773790, PMID:2929545, PMID:3792352 ; - oboInOwl:hasDbXref UMLS:C1852540 ; - oboInOwl:hasExactSynonym "coronary artery dissection, spontaneous" . + oboInOwl:hasExactSynonym "coronary artery dissection, spontaneous" ; + skos:exactMatch UMLS:C1852540 . OMIM:122480 a owl:Class ; IAO:0100001 OMIM:166740 ; @@ -18113,14 +18526,15 @@ OMIM:122500 a owl:Class ; PMID:9383284 ; RO:0002525 CHR:9606chr14q32.13 ; RO:0003303 OMIM:611489 ; - oboInOwl:hasDbXref UMLS:C1413150 ; oboInOwl:hasExactSynonym "SERPINA6", "corticosteroid-binding globulin", "serpin peptidase inhibitor, clade a, member 6", "transcortin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:866 ; - skos:exactMatch HGNC_symbol:SERPINA6 ; + skos:exactMatch UMLS:C1413150, + HGNC:1540, + HGNC_symbol:SERPINA6 ; biolink:category biolink:Gene . OMIM:122550 a owl:Class ; @@ -18128,9 +18542,9 @@ OMIM:122550 a owl:Class ; IAO:0000142 PMID:6822218, PMID:7079749, PMID:9556664 ; - oboInOwl:hasDbXref UMLS:C1852526 ; oboInOwl:hasExactSynonym "CSCI", - "corticosterone side-chain isomerase" . + "corticosterone side-chain isomerase" ; + skos:exactMatch UMLS:C1852526 . OMIM:122559 a owl:Class ; rdfs:label "CRHBP" ; @@ -18138,13 +18552,14 @@ OMIM:122559 a owl:Class ; PMID:7774945, PMID:8198617, PMID:9253360 ; - oboInOwl:hasDbXref UMLS:C1413708 ; oboInOwl:hasExactSynonym "CRHBP", "corticotropin-releasing factor-binding protein", "corticotropin-releasing hormone-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1393 ; - skos:exactMatch HGNC_symbol:CRHBP ; + skos:exactMatch UMLS:C1413708, + HGNC:2356, + HGNC_symbol:CRHBP ; biolink:category biolink:Gene . OMIM:122560 a owl:Class ; @@ -18173,13 +18588,14 @@ OMIM:122560 a owl:Class ; PMID:8882784, PMID:9253360, PMID:9717848 ; - oboInOwl:hasDbXref UMLS:C1366488 ; oboInOwl:hasExactSynonym "CRH", "corticotropin-releasing factor", "corticotropin-releasing hormone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1392 ; - skos:exactMatch HGNC_symbol:CRH ; + skos:exactMatch UMLS:C1366488, + HGNC:2355, + HGNC_symbol:CRH ; biolink:category biolink:Gene . OMIM:122561 a owl:Class ; @@ -18207,42 +18623,43 @@ OMIM:122561 a owl:Class ; PMID:9661640, PMID:9745449, PMID:9757017 ; - oboInOwl:hasDbXref UMLS:C1413709 ; oboInOwl:hasExactSynonym "CRHR1", "corticotropin-releasing factor receptor", "corticotropin-releasing hormone receptor", "corticotropin-releasing hormone receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1394 ; - skos:exactMatch HGNC_symbol:CRHR1 ; + skos:exactMatch UMLS:C1413709, + HGNC:2357, + HGNC_symbol:CRHR1 ; biolink:category biolink:Gene . OMIM:122580 a owl:Class ; rdfs:label "costocoracoid ligament, congenitally short" ; IAO:0000142 PMID:2596500 ; - oboInOwl:hasDbXref UMLS:C1852523 ; - oboInOwl:hasExactSynonym "costocoracoid ligament, congenitally short" . + oboInOwl:hasExactSynonym "costocoracoid ligament, congenitally short" ; + skos:exactMatch UMLS:C1852523 . OMIM:122750 a owl:Class ; rdfs:label "coxa vara" ; IAO:0000142 PMID:13332001, PMID:5101666 ; - oboInOwl:hasDbXref UMLS:C0239138 ; oboInOwl:hasExactSynonym "coxa vara" ; + skos:exactMatch UMLS:C0239138 ; biolink:category biolink:Disease . OMIM:122780 a owl:Class ; rdfs:label "coxoauricular syndrome" ; IAO:0000142 PMID:6873941, PMID:7282772 ; - oboInOwl:hasDbXref UMLS:C1852513 ; - oboInOwl:hasExactSynonym "coxoauricular syndrome" . + oboInOwl:hasExactSynonym "coxoauricular syndrome" ; + skos:exactMatch UMLS:C1852513 . OMIM:122850 a owl:Class ; rdfs:label "cranioacrofacial syndrome" ; IAO:0000142 PMID:4425531 ; - oboInOwl:hasDbXref UMLS:C1852512 ; - oboInOwl:hasExactSynonym "cranioacrofacial syndrome" . + oboInOwl:hasExactSynonym "cranioacrofacial syndrome" ; + skos:exactMatch UMLS:C1852512 . OMIM:122860 a owl:Class ; rdfs:label "craniodiaphyseal dysplasia, autosomal dominant" ; @@ -18251,9 +18668,9 @@ OMIM:122860 a owl:Class ; PMID:21221996, PMID:2277386, PMID:3802557 ; - oboInOwl:hasDbXref UMLS:C2675746 ; oboInOwl:hasExactSynonym "CDD", "craniodiaphyseal dysplasia, autosomal dominant" ; + skos:exactMatch UMLS:C2675746 ; biolink:category biolink:Disease . OMIM:122880 a owl:Class ; @@ -18265,10 +18682,10 @@ OMIM:122880 a owl:Class ; PMID:7942851, PMID:8447316, PMID:8664898 ; - oboInOwl:hasDbXref UMLS:C1852510, - ORPHA:1529 ; oboInOwl:hasExactSynonym "CDHS", "craniofacial-deafness-hand syndrome" ; + skos:exactMatch UMLS:C1852510, + ORPHA:1529 ; biolink:category biolink:Disease . OMIM:122900 a owl:Class ; @@ -18276,9 +18693,9 @@ OMIM:122900 a owl:Class ; IAO:0000142 PMID:6741989, PMID:7328407, PMID:7573138 ; - oboInOwl:hasDbXref UMLS:C0432263 ; oboInOwl:hasExactSynonym "craniofacial dysostosis with diaphyseal hyperplasia", - "osteosclerosis, stanescu iia" . + "osteosclerosis, stanescu iia" ; + skos:exactMatch UMLS:C0432263 . OMIM:122920 a owl:Class ; IAO:0100001 OMIM:304110 ; @@ -18288,8 +18705,8 @@ OMIM:123050 a owl:Class ; rdfs:label "craniorhiny" ; IAO:0000142 PMID:1896543, PMID:1897582 ; - oboInOwl:hasDbXref UMLS:C1852501 ; - oboInOwl:hasExactSynonym "craniorhiny" . + oboInOwl:hasExactSynonym "craniorhiny" ; + skos:exactMatch UMLS:C1852501 . OMIM:123101 a owl:Class ; rdfs:label "MSX2" ; @@ -18314,14 +18731,15 @@ OMIM:123101 a owl:Class ; PMID:9147639 ; RO:0002525 CHR:9606chr5q35.2 ; RO:0003303 OMIM:168550 ; - oboInOwl:hasDbXref UMLS:C1417388 ; oboInOwl:hasExactSynonym "MSX2", "msh homeobox 2", "msh, drosophila, homolog of, 2", "muscle segment homeobox, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4488 ; - skos:exactMatch HGNC_symbol:MSX2 ; + skos:exactMatch UMLS:C1417388, + HGNC:7392, + HGNC_symbol:MSX2 ; biolink:category biolink:Gene . OMIM:123260 a owl:Class ; @@ -18361,14 +18779,15 @@ OMIM:123260 a owl:Class ; PMID:762075, PMID:7637722, PMID:8613143 ; - oboInOwl:hasDbXref UMLS:C1413716 ; oboInOwl:hasExactSynonym "CRP", "c-reactive protein", "c-reactive protein, pentraxin-related", "pentraxin 1, short" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1401 ; - skos:exactMatch HGNC_symbol:CRP ; + skos:exactMatch UMLS:C1413716, + HGNC:2367, + HGNC_symbol:CRP ; biolink:category biolink:Gene . OMIM:123290 a owl:Class ; @@ -18381,7 +18800,6 @@ OMIM:123290 a owl:Class ; PMID:3400641, PMID:7373746, PMID:7896282 ; - oboInOwl:hasDbXref UMLS:C1538468 ; oboInOwl:hasExactSynonym "CKMT1B", "ckmt1, centromeric copy", "creatine kinase, mitochondrial 1, centromeric copy", @@ -18392,20 +18810,23 @@ OMIM:123290 a owl:Class ; "mtck, ubiquitous" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1159 ; - skos:exactMatch HGNC_symbol:CKMT1B ; + skos:exactMatch UMLS:C1538468, + HGNC:1995, + HGNC_symbol:CKMT1B ; biolink:category biolink:Gene . OMIM:123295 a owl:Class ; rdfs:label "CKMT2" ; IAO:0000142 PMID:1917943, PMID:8276398 ; - oboInOwl:hasDbXref UMLS:C1413437 ; oboInOwl:hasExactSynonym "CKMT2", "creatine kinase, mitochondrial 2", "creatine kinase, sarcomeric mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1160 ; - skos:exactMatch HGNC_symbol:CKMT2 ; + skos:exactMatch UMLS:C1413437, + HGNC:1996, + HGNC_symbol:CKMT2 ; biolink:category biolink:Gene . OMIM:123310 a owl:Class ; @@ -18420,13 +18841,14 @@ OMIM:123310 a owl:Class ; PMID:5251888, PMID:6959139, PMID:9094718 ; - oboInOwl:hasDbXref UMLS:C1413435 ; oboInOwl:hasExactSynonym "CKM", "ckmm", "creatine kinase, muscle iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1158 ; - skos:exactMatch HGNC_symbol:CKM ; + skos:exactMatch UMLS:C1413435, + HGNC:1994, + HGNC_symbol:CKM ; biolink:category biolink:Gene . OMIM:123320 a owl:Class ; @@ -18439,10 +18861,10 @@ OMIM:123320 a owl:Class ; PMID:7189025, PMID:8533818, PMID:9660505 ; - oboInOwl:hasDbXref UMLS:C0241005 ; oboInOwl:hasExactSynonym "cpk, elevated serum", "creatine phosphokinase, elevated serum", "hyperckemia, idiopathic" ; + skos:exactMatch UMLS:C0241005 ; biolink:category biolink:Disease . OMIM:123400 a owl:Class ; @@ -18517,16 +18939,16 @@ OMIM:123400 a owl:Class ; PMID:8988126, PMID:9279329, PMID:9869672 ; - oboInOwl:hasDbXref UMLS:C0022336, - UMLS:C0376329, - UMLS:C1852467, - UMLS:C1969957 ; oboInOwl:hasExactSynonym "CJD", "creutzfeldt-jakob disease", "creutzfeldt-jakob disease, familial", "creutzfeldt-jakob disease, heidenhain variant", "creutzfeldt-jakob disease, sporadic", "creutzfeldt-jakob disease, variant" ; + skos:exactMatch UMLS:C0022336, + UMLS:C0376329, + UMLS:C1852467, + UMLS:C1969957 ; biolink:category biolink:Disease . OMIM:123450 a owl:Class ; @@ -18550,11 +18972,11 @@ OMIM:123450 a owl:Class ; PMID:8004090, PMID:9049630, PMID:9916835 ; - oboInOwl:hasDbXref UMLS:C0010314, - ORPHA:281 ; oboInOwl:hasExactSynonym "cat cry syndrome", "chromosome 5p deletion syndrome", "cri-du-chat syndrome" ; + skos:exactMatch UMLS:C0010314, + ORPHA:281 ; biolink:category biolink:Disease . OMIM:123500 a owl:Class ; @@ -18584,18 +19006,18 @@ OMIM:123500 a owl:Class ; PMID:7920632, PMID:7987400, PMID:8399270 ; - oboInOwl:hasDbXref UMLS:C2931196 ; oboInOwl:hasExactSynonym "craniofacial dysostosis, iia 1", "crouzon craniofacial dysostosis", "crouzon syndrome" ; + skos:exactMatch UMLS:C2931196 ; biolink:category biolink:Disease . OMIM:123540 a owl:Class ; rdfs:label "cryofibrinogenemia, familial primary" ; IAO:0000142 PMID:13250040, PMID:2585459 ; - oboInOwl:hasDbXref UMLS:C1852457 ; - oboInOwl:hasExactSynonym "cryofibrinogenemia, familial primary" . + oboInOwl:hasExactSynonym "cryofibrinogenemia, familial primary" ; + skos:exactMatch UMLS:C1852457 . OMIM:123550 a owl:Class ; rdfs:label "cryoglobulinemia, familial mixed" ; @@ -18603,9 +19025,9 @@ OMIM:123550 a owl:Class ; PMID:4956871, PMID:6794362, PMID:7294022 ; - oboInOwl:hasDbXref UMLS:C1852456 ; oboInOwl:hasExactSynonym "cryoglobulinemia, familial mixed", "meltzer syndrome" ; + skos:exactMatch UMLS:C1852456 ; biolink:category biolink:Disease . OMIM:123555 a owl:Class ; @@ -18615,14 +19037,14 @@ OMIM:123555 a owl:Class ; OMIM:123557 a owl:Class ; rdfs:label "cryptotia, familial" ; IAO:0000142 PMID:8497537 ; - oboInOwl:hasDbXref UMLS:C1852455 ; - oboInOwl:hasExactSynonym "cryptotia, familial" . + oboInOwl:hasExactSynonym "cryptotia, familial" ; + skos:exactMatch UMLS:C1852455 . OMIM:123560 a owl:Class ; rdfs:label "cryptomicrotia-brachydactyly syndrome" ; IAO:0000142 PMID:3400730 ; - oboInOwl:hasDbXref UMLS:C1852454 ; - oboInOwl:hasExactSynonym "cryptomicrotia-brachydactyly syndrome" . + oboInOwl:hasExactSynonym "cryptomicrotia-brachydactyly syndrome" ; + skos:exactMatch UMLS:C1852454 . OMIM:123570 a owl:Class ; rdfs:label "cryptophthalmos, unilateral or bilateral, isolated" ; @@ -18632,11 +19054,11 @@ OMIM:123570 a owl:Class ; PMID:30802441, PMID:3099574, PMID:8984052 ; - oboInOwl:hasDbXref UMLS:C1852453 ; oboInOwl:hasExactSynonym "CRYPTOP", "ankyloblepharon, simple", "cryptophthalmos with microphthalmia and peters anomaly", "cryptophthalmos, unilateral or bilateral, isolated" ; + skos:exactMatch UMLS:C1852453 ; biolink:category biolink:Disease . OMIM:123580 a owl:Class ; @@ -18675,14 +19097,15 @@ OMIM:123580 a owl:Class ; PMID:9467006 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:604219 ; - oboInOwl:hasDbXref UMLS:C1439327 ; oboInOwl:hasExactSynonym "CRYAA", "crystallin, alpha-1", "crystallin, alpha-a", "heat-shock protein beta-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1409 ; - skos:exactMatch HGNC_symbol:CRYAA ; + skos:exactMatch UMLS:C1439327, + HGNC:2388, + HGNC_symbol:CRYAA ; biolink:category biolink:Gene . OMIM:123590 a owl:Class ; @@ -18728,20 +19151,21 @@ OMIM:123590 a owl:Class ; PMID:9731540 ; RO:0002525 CHR:9606chr11q23.1 ; RO:0003303 OMIM:613869 ; - oboInOwl:hasDbXref UMLS:C0302254, - UMLS:C1439328, - UMLS:C1837317, - UMLS:C3151236, - UMLS:C3554649, - UMLS:C4015991, - UMLS:C4015992 ; oboInOwl:hasExactSynonym "CRYAB", "crystallin, alpha-2", "crystallin, alpha-b", "heat-shock protein beta-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1410 ; - skos:exactMatch HGNC_symbol:CRYAB ; + skos:exactMatch UMLS:C0302254, + UMLS:C1439328, + UMLS:C1837317, + UMLS:C3151236, + UMLS:C3554649, + UMLS:C4015991, + UMLS:C4015992, + HGNC:2389, + HGNC_symbol:CRYAB ; biolink:category biolink:Gene . OMIM:123610 a owl:Class ; @@ -18764,14 +19188,15 @@ OMIM:123610 a owl:Class ; PMID:9788845 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:600881 ; - oboInOwl:hasDbXref UMLS:C1413726 ; oboInOwl:hasExactSynonym "CRYBA1", "crystallin, beta-1", "crystallin, beta-a1", "crystallin, beta-a1/a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1411 ; - skos:exactMatch HGNC_symbol:CRYBA1 ; + skos:exactMatch UMLS:C1413726, + HGNC:2394, + HGNC_symbol:CRYBA1 ; biolink:category biolink:Gene . OMIM:123620 a owl:Class ; @@ -18793,14 +19218,15 @@ OMIM:123620 a owl:Class ; PMID:9158139 ; RO:0002525 CHR:9606chr22q11.23 ; RO:0003303 OMIM:601547 ; - oboInOwl:hasDbXref UMLS:C1413730 ; oboInOwl:hasExactSynonym "CRYBB2", "crybb2p1", "crystallin, beta-2", "crystallin, beta-b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1415 ; - skos:exactMatch HGNC_symbol:CRYBB2 ; + skos:exactMatch UMLS:C1413730, + HGNC:2398, + HGNC_symbol:CRYBB2 ; biolink:category biolink:Gene . OMIM:123630 a owl:Class ; @@ -18814,13 +19240,14 @@ OMIM:123630 a owl:Class ; PMID:8999933 ; RO:0002525 CHR:9606chr22q11.23 ; RO:0003303 OMIM:609741 ; - oboInOwl:hasDbXref UMLS:C1413732 ; oboInOwl:hasExactSynonym "CRYBB3", "crystallin, beta-3", "crystallin, beta-b3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1417 ; - skos:exactMatch HGNC_symbol:CRYBB3 ; + skos:exactMatch UMLS:C1413732, + HGNC:2400, + HGNC_symbol:CRYBB3 ; biolink:category biolink:Gene . OMIM:123631 a owl:Class ; @@ -18833,12 +19260,13 @@ OMIM:123631 a owl:Class ; PMID:8999933 ; RO:0002525 CHR:9606chr22q12.1 ; RO:0003303 OMIM:610425 ; - oboInOwl:hasDbXref UMLS:C1413728 ; oboInOwl:hasExactSynonym "CRYBA4", "crystallin, beta-a4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1413 ; - skos:exactMatch HGNC_symbol:CRYBA4 ; + skos:exactMatch UMLS:C1413728, + HGNC:2396, + HGNC_symbol:CRYBA4 ; biolink:category biolink:Gene . OMIM:123670 a owl:Class ; @@ -18850,13 +19278,14 @@ OMIM:123670 a owl:Class ; PMID:4065573 ; RO:0002525 CHR:9606chr2q33.3 ; RO:0003303 OMIM:615188 ; - oboInOwl:hasDbXref UMLS:C1413734 ; oboInOwl:hasExactSynonym "CRYGB", "crystallin, gamma-2", "crystallin, gamma-b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1419 ; - skos:exactMatch HGNC_symbol:CRYGB ; + skos:exactMatch UMLS:C1413734, + HGNC:2409, + HGNC_symbol:CRYGB ; biolink:category biolink:Gene . OMIM:123680 a owl:Class ; @@ -18879,13 +19308,14 @@ OMIM:123680 a owl:Class ; PMID:8190472 ; RO:0002525 CHR:9606chr2q33.3 ; RO:0003303 OMIM:604307 ; - oboInOwl:hasDbXref UMLS:C1413735 ; oboInOwl:hasExactSynonym "CRYGC", "crystallin, gamma-3", "crystallin, gamma-c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1420 ; - skos:exactMatch HGNC_symbol:CRYGC ; + skos:exactMatch UMLS:C1413735, + HGNC:2410, + HGNC_symbol:CRYGC ; biolink:category biolink:Gene . OMIM:123690 a owl:Class ; @@ -18907,13 +19337,14 @@ OMIM:123690 a owl:Class ; PMID:9927684 ; RO:0002525 CHR:9606chr2q33.3 ; RO:0003303 OMIM:115700 ; - oboInOwl:hasDbXref UMLS:C1413736 ; oboInOwl:hasExactSynonym "CRYGD", "crystallin, gamma-4", "crystallin, gamma-d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1421 ; - skos:exactMatch HGNC_symbol:CRYGD ; + skos:exactMatch UMLS:C1413736, + HGNC:2411, + HGNC_symbol:CRYGD ; biolink:category biolink:Gene . OMIM:123691 a owl:Class ; @@ -18923,13 +19354,14 @@ OMIM:123691 a owl:Class ; PMID:3595182, PMID:7835889, PMID:8088825 ; - oboInOwl:hasDbXref UMLS:C1413742 ; oboInOwl:hasExactSynonym "CRYZ", "crystallin, zeta", "quinone oxidoreductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1429 ; - skos:exactMatch HGNC_symbol:CRYZ ; + skos:exactMatch UMLS:C1413742, + HGNC:2419, + HGNC_symbol:CRYZ ; biolink:category biolink:Gene . OMIM:123695 a owl:Class ; @@ -18943,8 +19375,6 @@ OMIM:123695 a owl:Class ; PMID:8307580 ; RO:0002525 CHR:9606chr3q29 ; RO:0003303 OMIM:608940 ; - oboInOwl:hasDbXref UMLS:C1418396, - UMLS:C1837073 ; oboInOwl:hasExactSynonym "PCYT1A", "cct-alpha", "choline-phosphate cytidylyltransferase", @@ -18953,7 +19383,10 @@ OMIM:123695 a owl:Class ; "phosphate cytidylyltransferase 1, choline, alpha isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5130 ; - skos:exactMatch HGNC_symbol:PCYT1A ; + skos:exactMatch UMLS:C1418396, + UMLS:C1837073, + HGNC:8754, + HGNC_symbol:PCYT1A ; biolink:category biolink:Gene . OMIM:123700 a owl:Class ; @@ -18973,10 +19406,10 @@ OMIM:123700 a owl:Class ; PMID:8091333, PMID:9580666, PMID:9873040 ; - oboInOwl:hasDbXref UMLS:C3276539 ; oboInOwl:hasExactSynonym "ADCL1", "cutis laxa, autosomal dominant 1" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C3276539 ; biolink:category biolink:Disease . OMIM:123710 a owl:Class ; @@ -18997,13 +19430,14 @@ OMIM:123730 a owl:Class ; PMID:7733876 ; RO:0002525 CHR:9606chr3q27.3 ; RO:0003303 OMIM:116100 ; - oboInOwl:hasDbXref UMLS:C1413740 ; oboInOwl:hasExactSynonym "CRYGS", "crystallin, gamma-8", "crystallin, gamma-s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1427 ; - skos:exactMatch HGNC_symbol:CRYGS ; + skos:exactMatch UMLS:C1413740, + HGNC:2417, + HGNC_symbol:CRYGS ; biolink:category biolink:Gene . OMIM:123740 a owl:Class ; @@ -19015,12 +19449,13 @@ OMIM:123740 a owl:Class ; PMID:9328354 ; RO:0002525 CHR:9606chr16p12.2 ; RO:0003303 OMIM:616357 ; - oboInOwl:hasDbXref UMLS:C1413741 ; oboInOwl:hasExactSynonym "CRYM", "crystallin, mu" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1428 ; - skos:exactMatch HGNC_symbol:CRYM ; + skos:exactMatch UMLS:C1413741, + HGNC:2418, + HGNC_symbol:CRYM ; biolink:category biolink:Gene . OMIM:123790 a owl:Class ; @@ -19032,12 +19467,12 @@ OMIM:123790 a owl:Class ; PMID:660365, PMID:8181503, PMID:8696350 ; - oboInOwl:hasDbXref UMLS:C1852406, - ORPHA:1555 ; oboInOwl:hasExactSynonym "BSTVS", "beare-stevenson cutis gyrata syndrome", "beare-stevenson syndrome", "cutis gyrata syndrome of beare and stevenson" ; + skos:exactMatch UMLS:C1852406, + ORPHA:1555 ; biolink:category biolink:Disease . OMIM:123803 a owl:Class ; @@ -19050,9 +19485,6 @@ OMIM:123803 a owl:Class ; PMID:6362860, PMID:6614306, PMID:8401579 ; - oboInOwl:hasDbXref UMLS:C1412615, - UMLS:C1852404, - UMLS:C1852405 ; oboInOwl:hasExactSynonym "ATF1", "activating transcription factor 1", "atf1/ews fusion gene", @@ -19060,7 +19492,11 @@ OMIM:123803 a owl:Class ; "camp-dependent transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:466 ; - skos:exactMatch HGNC_symbol:ATF1 ; + skos:exactMatch UMLS:C1412615, + UMLS:C1852404, + UMLS:C1852405, + HGNC:783, + HGNC_symbol:ATF1 ; biolink:category biolink:Gene . OMIM:123805 a owl:Class ; @@ -19073,15 +19509,16 @@ OMIM:123805 a owl:Class ; PMID:9173884 ; RO:0002525 CHR:9606chr12p12.2 ; RO:0003303 OMIM:112410 ; - oboInOwl:hasDbXref UMLS:C1418418, - UMLS:C1862170 ; oboInOwl:hasExactSynonym "PDE3A", "camp phosphodiesterase, myocardial cgmp-inhibited", "phosphodiesterase 3a", "phosphodiesterase 3a, cgmp-inhibited" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5139 ; - skos:exactMatch HGNC_symbol:PDE3A ; + skos:exactMatch UMLS:C1418418, + UMLS:C1862170, + HGNC:8778, + HGNC_symbol:PDE3A ; biolink:category biolink:Gene . OMIM:123810 a owl:Class ; @@ -19127,14 +19564,15 @@ OMIM:123810 a owl:Class ; PMID:9856954 ; RO:0002525 CHR:9606chr2q33.3 ; RO:0003303 OMIM:612160 ; - oboInOwl:hasDbXref UMLS:C1413702 ; oboInOwl:hasExactSynonym "CREB1", "camp response element-binding protein 1", "creb", "creb/ews fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1385 ; - skos:exactMatch HGNC_symbol:CREB1 ; + skos:exactMatch UMLS:C1413702, + HGNC:2345, + HGNC_symbol:CREB1 ; biolink:category biolink:Gene . OMIM:123811 a owl:Class ; @@ -19150,14 +19588,15 @@ OMIM:123811 a owl:Class ; PMID:21703449, PMID:2521922, PMID:2529117 ; - oboInOwl:hasDbXref UMLS:C1332119 ; oboInOwl:hasExactSynonym "ATF2", "activating transcription factor 2", "camp response element-binding protein 2, formerly", "crebp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1386 ; - skos:exactMatch HGNC_symbol:ATF2 ; + skos:exactMatch UMLS:C1332119, + HGNC:784, + HGNC_symbol:ATF2 ; biolink:category biolink:Gene . OMIM:123812 a owl:Class ; @@ -19170,14 +19609,15 @@ OMIM:123812 a owl:Class ; PMID:8252624, PMID:8600390, PMID:8600391 ; - oboInOwl:hasDbXref UMLS:C1413706, - UMLS:C1852403 ; oboInOwl:hasExactSynonym "CREM", "camp response element modulator", "inducible camp early repressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1390 ; - skos:exactMatch HGNC_symbol:CREM ; + skos:exactMatch UMLS:C1413706, + UMLS:C1852403, + HGNC:2352, + HGNC_symbol:CREM ; biolink:category biolink:Gene . OMIM:123825 a owl:Class ; @@ -19191,7 +19631,6 @@ OMIM:123825 a owl:Class ; PMID:7683629 ; RO:0002525 CHR:9606chr4p12 ; RO:0003303 OMIM:613756 ; - oboInOwl:hasDbXref UMLS:C1413543 ; oboInOwl:hasExactSynonym "CNGA1", "cncg", "cyclic nucleotide-gated channel, alpha-1", @@ -19199,7 +19638,9 @@ OMIM:123825 a owl:Class ; "retinal rod cgmp-gated channel, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1259 ; - skos:exactMatch HGNC_symbol:CNGA1 ; + skos:exactMatch UMLS:C1413543, + HGNC:2148, + HGNC_symbol:CNGA1 ; biolink:category biolink:Gene . OMIM:123828 a owl:Class ; @@ -19207,13 +19648,14 @@ OMIM:123828 a owl:Class ; IAO:0000142 PMID:11172011, PMID:1639063, PMID:7882308 ; - oboInOwl:hasDbXref UMLS:C1332734 ; oboInOwl:hasExactSynonym "CDK3", "cell division kinase 3", "cyclin-dependent kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1018 ; - skos:exactMatch HGNC_symbol:CDK3 ; + skos:exactMatch UMLS:C1332734, + HGNC:1772, + HGNC_symbol:CDK3 ; biolink:category biolink:Gene . OMIM:123829 a owl:Class ; @@ -19237,14 +19679,15 @@ OMIM:123829 a owl:Class ; PMID:9425228 ; RO:0002525 CHR:9606chr12q14.1 ; RO:0003303 OMIM:609048 ; - oboInOwl:hasDbXref UMLS:C0694873 ; oboInOwl:hasExactSynonym "CDK4", "cell division kinase 4", "cyclin-dependent kinase 4", "psk-j3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1019 ; - skos:exactMatch HGNC_symbol:CDK4 ; + skos:exactMatch UMLS:C0694873, + HGNC:1773, + HGNC_symbol:CDK4 ; biolink:category biolink:Gene . OMIM:123830 a owl:Class ; @@ -19262,15 +19705,16 @@ OMIM:123830 a owl:Class ; PMID:8392017 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:619071 ; - oboInOwl:hasDbXref UMLS:C1413553, - UMLS:C5436730 ; oboInOwl:hasExactSynonym "2-prime,3-prime cyclic nucleotide 3-prime phosphohydrolase", "CNP", "cnp1", "cyclic nucleotide phosphodiesterase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1267 ; - skos:exactMatch HGNC_symbol:CNP ; + skos:exactMatch UMLS:C1413553, + UMLS:C5436730, + HGNC:2158, + HGNC_symbol:CNP ; biolink:category biolink:Gene . OMIM:123831 a owl:Class ; @@ -19300,14 +19744,15 @@ OMIM:123831 a owl:Class ; PMID:8855328 ; RO:0002525 CHR:9606chr7q36.1 ; RO:0003303 OMIM:616342 ; - oboInOwl:hasDbXref UMLS:C1332735 ; oboInOwl:hasExactSynonym "CDK5", "cell division kinase 5", "cyclin-dependent kinase 5", "pssalre" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1020 ; - skos:exactMatch HGNC_symbol:CDK5 ; + skos:exactMatch UMLS:C1332735, + HGNC:1774, + HGNC_symbol:CDK5 ; biolink:category biolink:Gene . OMIM:123832 a owl:Class ; @@ -19315,13 +19760,14 @@ OMIM:123832 a owl:Class ; IAO:0000142 PMID:7698009, PMID:8127873, PMID:8242750 ; - oboInOwl:hasDbXref UMLS:C1332739 ; oboInOwl:hasExactSynonym "CDKN3", "cyclin-dependent kinase inhibitor 3", "cyclin-dependent kinase interactor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1033 ; - skos:exactMatch HGNC_symbol:CDKN3 ; + skos:exactMatch UMLS:C1332739, + HGNC:1791, + HGNC_symbol:CDKN3 ; biolink:category biolink:Gene . OMIM:123833 a owl:Class ; @@ -19335,13 +19781,14 @@ OMIM:123833 a owl:Class ; PMID:27572135 ; RO:0002525 CHR:9606chr12p13.32 ; RO:0003303 OMIM:615938 ; - oboInOwl:hasDbXref UMLS:C1413173, - UMLS:C4014742 ; oboInOwl:hasExactSynonym "CCND2", "cyclin d2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:894 ; - skos:exactMatch HGNC_symbol:CCND2 ; + skos:exactMatch UMLS:C1413173, + UMLS:C4014742, + HGNC:1583, + HGNC_symbol:CCND2 ; biolink:category biolink:Gene . OMIM:123834 a owl:Class ; @@ -19354,12 +19801,13 @@ OMIM:123834 a owl:Class ; PMID:15327989, PMID:28607489, PMID:8661116 ; - oboInOwl:hasDbXref UMLS:C1413175 ; oboInOwl:hasExactSynonym "CCND3", "cyclin d3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:896 ; - skos:exactMatch HGNC_symbol:CCND3 ; + skos:exactMatch UMLS:C1413175, + HGNC:1585, + HGNC_symbol:CCND3 ; biolink:category biolink:Gene . OMIM:123835 a owl:Class ; @@ -19381,13 +19829,14 @@ OMIM:123835 a owl:Class ; PMID:8565853, PMID:8988174, PMID:9041194 ; - oboInOwl:hasDbXref UMLS:C1332694 ; oboInOwl:hasExactSynonym "CCNA2", "cyclin a", "cyclin a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:890 ; - skos:exactMatch HGNC_symbol:CCNA2 ; + skos:exactMatch UMLS:C1332694, + HGNC:1578, + HGNC_symbol:CCNA2 ; biolink:category biolink:Gene . OMIM:123836 a owl:Class ; @@ -19402,13 +19851,14 @@ OMIM:123836 a owl:Class ; PMID:20739936, PMID:2570636, PMID:9539739 ; - oboInOwl:hasDbXref UMLS:C1332695 ; oboInOwl:hasExactSynonym "CCNB1", "cyclin B", "cyclin b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:891 ; - skos:exactMatch HGNC_symbol:CCNB1 ; + skos:exactMatch UMLS:C1332695, + HGNC:1579, + HGNC_symbol:CCNB1 ; biolink:category biolink:Gene . OMIM:123837 a owl:Class ; @@ -19430,13 +19880,14 @@ OMIM:123837 a owl:Class ; PMID:9153308, PMID:9192873, PMID:9933170 ; - oboInOwl:hasDbXref UMLS:C1332697 ; oboInOwl:hasExactSynonym "CCNE1", "cyclin e", "cyclin e1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:898 ; - skos:exactMatch HGNC_symbol:CCNE1 ; + skos:exactMatch UMLS:C1332697, + HGNC:1589, + HGNC_symbol:CCNE1 ; biolink:category biolink:Gene . OMIM:123838 a owl:Class ; @@ -19446,12 +19897,13 @@ OMIM:123838 a owl:Class ; PMID:1833066, PMID:7698009, PMID:8833152 ; - oboInOwl:hasDbXref UMLS:C1413171 ; oboInOwl:hasExactSynonym "CCNC", "cyclin c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:892 ; - skos:exactMatch HGNC_symbol:CCNC ; + skos:exactMatch UMLS:C1413171, + HGNC:1581, + HGNC_symbol:CCNC ; biolink:category biolink:Gene . OMIM:123839 a owl:Class ; @@ -19473,14 +19925,15 @@ OMIM:123840 a owl:Class ; PMID:7590732, PMID:8513493, PMID:8976380 ; - oboInOwl:hasDbXref UMLS:C1418793 ; oboInOwl:hasExactSynonym "PPIA", "cyclophilin a", "cyph", "peptidyl-prolyl isomerase a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5478 ; - skos:exactMatch HGNC_symbol:PPIA ; + skos:exactMatch UMLS:C1418793, + HGNC:9253, + HGNC_symbol:PPIA ; biolink:category biolink:Gene . OMIM:123841 a owl:Class ; @@ -19498,26 +19951,28 @@ OMIM:123841 a owl:Class ; PMID:22718341 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:259440 ; - oboInOwl:hasDbXref UMLS:C1418795 ; oboInOwl:hasExactSynonym "PPIB", "cyclophilin B", "peptidyl-prolyl isomerase B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5479 ; - skos:exactMatch HGNC_symbol:PPIB ; + skos:exactMatch UMLS:C1418795, + HGNC:9255, + HGNC_symbol:PPIB ; biolink:category biolink:Gene . OMIM:123842 a owl:Class ; rdfs:label "PPIC" ; IAO:0000142 PMID:1652374, PMID:1715244 ; - oboInOwl:hasDbXref UMLS:C1418796 ; oboInOwl:hasExactSynonym "PPIC", "cyclophilin c", "peptidyl-prolyl isomerase c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5480 ; - skos:exactMatch HGNC_symbol:PPIC ; + skos:exactMatch UMLS:C1418796, + HGNC:9256, + HGNC_symbol:PPIC ; biolink:category biolink:Gene . OMIM:123850 a owl:Class ; @@ -19527,8 +19982,8 @@ OMIM:123850 a owl:Class ; OMIM:123853 a owl:Class ; rdfs:label "cyprus facial neuromusculoskeletal syndrome" ; IAO:0000142 PMID:1481843 ; - oboInOwl:hasDbXref UMLS:C1852396 ; - oboInOwl:hasExactSynonym "cyprus facial neuromusculoskeletal syndrome" . + oboInOwl:hasExactSynonym "cyprus facial neuromusculoskeletal syndrome" ; + skos:exactMatch UMLS:C1852396 . OMIM:123855 a owl:Class ; rdfs:label "CST1" ; @@ -19536,13 +19991,14 @@ OMIM:123855 a owl:Class ; PMID:2764935, PMID:3446578, PMID:7896273 ; - oboInOwl:hasDbXref UMLS:C1413770 ; oboInOwl:hasExactSynonym "CST1", "cystatin 1", "cystatin sn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1469 ; - skos:exactMatch HGNC_symbol:CST1 ; + skos:exactMatch UMLS:C1413770, + HGNC:2473, + HGNC_symbol:CST1 ; biolink:category biolink:Gene . OMIM:123856 a owl:Class ; @@ -19551,13 +20007,14 @@ OMIM:123856 a owl:Class ; PMID:21846728, PMID:3446578, PMID:7896273 ; - oboInOwl:hasDbXref UMLS:C1413771 ; oboInOwl:hasExactSynonym "CST2", "cystatin 2", "cystatin sa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1470 ; - skos:exactMatch HGNC_symbol:CST2 ; + skos:exactMatch UMLS:C1413771, + HGNC:2474, + HGNC_symbol:CST2 ; biolink:category biolink:Gene . OMIM:123857 a owl:Class ; @@ -19565,13 +20022,14 @@ OMIM:123857 a owl:Class ; IAO:0000142 PMID:11879580, PMID:1801729, PMID:7896273 ; - oboInOwl:hasDbXref UMLS:C1413773 ; oboInOwl:hasExactSynonym "CST4", "cystatin 4", "cystatin s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1472 ; - skos:exactMatch HGNC_symbol:CST4 ; + skos:exactMatch UMLS:C1413773, + HGNC:2476, + HGNC_symbol:CST4 ; biolink:category biolink:Gene . OMIM:123858 a owl:Class ; @@ -19580,13 +20038,14 @@ OMIM:123858 a owl:Class ; PMID:1939105, PMID:8340398, PMID:8422752 ; - oboInOwl:hasDbXref UMLS:C1413774 ; oboInOwl:hasExactSynonym "CST5", "cystatin 5", "cystatin d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1473 ; - skos:exactMatch HGNC_symbol:CST5 ; + skos:exactMatch UMLS:C1413774, + HGNC:2477, + HGNC_symbol:CST5 ; biolink:category biolink:Gene . OMIM:123859 a owl:Class ; @@ -19597,8 +20056,6 @@ OMIM:123859 a owl:Class ; PMID:8468064 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:618891 ; - oboInOwl:hasDbXref UMLS:C1413126, - UMLS:C5394425 ; oboInOwl:hasExactSynonym "CARS1", "cars", "cars/alk fusion gene", @@ -19606,7 +20063,10 @@ OMIM:123859 a owl:Class ; "cysteinyl-trna synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:833 ; - skos:exactMatch HGNC_symbol:CARS1 ; + skos:exactMatch UMLS:C1413126, + UMLS:C5394425, + HGNC:1493, + HGNC_symbol:CARS1 ; biolink:category biolink:Gene . OMIM:123860 a owl:Class ; @@ -19619,7 +20079,6 @@ OMIM:123860 a owl:Class ; PMID:7981751 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:615897 ; - oboInOwl:hasDbXref UMLS:C1413804 ; oboInOwl:hasExactSynonym "CTPS1", "ctp synthase", "ctp synthetase", @@ -19627,7 +20086,9 @@ OMIM:123860 a owl:Class ; "cytidine 5-prime triphosphate synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1503 ; - skos:exactMatch HGNC_symbol:CTPS1 ; + skos:exactMatch UMLS:C1413804, + HGNC:2519, + HGNC_symbol:CTPS1 ; biolink:category biolink:Gene . OMIM:123864 a owl:Class ; @@ -19642,27 +20103,29 @@ OMIM:123864 a owl:Class ; PMID:8854875 ; RO:0002525 CHR:9606chr16q24.1 ; RO:0003303 OMIM:619060 ; - oboInOwl:hasDbXref UMLS:C1413634, - UMLS:C5436714 ; oboInOwl:hasExactSynonym "COX4I1", "cytochrome c oxidase, subunit 4", "cytochrome c oxidase, subunit 4i1", "cytochrome c oxidase, subunit iv, isoform 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1327 ; - skos:exactMatch HGNC_symbol:COX4I1 ; + skos:exactMatch UMLS:C1413634, + UMLS:C5436714, + HGNC:2265, + HGNC_symbol:COX4I1 ; biolink:category biolink:Gene . OMIM:123866 a owl:Class ; rdfs:label "COX5B" ; IAO:0000142 PMID:1646156 ; - oboInOwl:hasDbXref UMLS:C1413638 ; oboInOwl:hasExactSynonym "COX5B", "cytochrome c oxidase, subunit 5b", "cytochrome c oxidase, subunit vb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1329 ; - skos:exactMatch HGNC_symbol:COX5B ; + skos:exactMatch UMLS:C1413638, + HGNC:2269, + HGNC_symbol:COX5B ; biolink:category biolink:Gene . OMIM:123870 a owl:Class ; @@ -19672,14 +20135,15 @@ OMIM:123870 a owl:Class ; PMID:8938448 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:619059 ; - oboInOwl:hasDbXref UMLS:C1413661, - UMLS:C5436712 ; oboInOwl:hasExactSynonym "COX8A", "cytochrome c oxidase, subunit 8a", "cytochrome c oxidase, subunit viii, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1351 ; - skos:exactMatch HGNC_symbol:COX8A ; + skos:exactMatch UMLS:C1413661, + UMLS:C5436712, + HGNC:2294, + HGNC_symbol:COX8A ; biolink:category biolink:Gene . OMIM:123875 a owl:Class ; @@ -19690,14 +20154,15 @@ OMIM:123875 a owl:Class ; PMID:7999070, PMID:9126610, PMID:9480758 ; - oboInOwl:hasDbXref UMLS:C1413712 ; oboInOwl:hasExactSynonym "CRIP1", "cysteine-rich heart protein", "cysteine-rich intestinal protein", "cysteine-rich intestinal protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1396 ; - skos:exactMatch HGNC_symbol:CRIP1 ; + skos:exactMatch UMLS:C1413712, + HGNC:2360, + HGNC_symbol:CRIP1 ; biolink:category biolink:Gene . OMIM:123876 a owl:Class ; @@ -19708,24 +20173,25 @@ OMIM:123876 a owl:Class ; PMID:7499425, PMID:9457685, PMID:9925910 ; - oboInOwl:hasDbXref UMLS:C1413766 ; oboInOwl:hasExactSynonym "CSRP1", "cysteine- and glycine-rich protein 1", "cysteine-rich protein", "cysteine-rich protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1465 ; - skos:exactMatch HGNC_symbol:CSRP1 ; + skos:exactMatch UMLS:C1413766, + HGNC:2469, + HGNC_symbol:CSRP1 ; biolink:category biolink:Gene . OMIM:123880 a owl:Class ; rdfs:label "cystic angiomatosis of bone, diffuse" ; IAO:0000142 PMID:13263344, PMID:8626854 ; - oboInOwl:hasDbXref UMLS:C0029438 ; oboInOwl:hasExactSynonym "cystic angiomatosis of bone, diffuse", "gorham-stout disease", - "osteolysis, massive" . + "osteolysis, massive" ; + skos:exactMatch UMLS:C0029438 . OMIM:123885 a owl:Class ; rdfs:label "S100A8" ; @@ -19748,7 +20214,6 @@ OMIM:123885 a owl:Class ; PMID:6101788, PMID:7116678, PMID:7759097 ; - oboInOwl:hasDbXref UMLS:C1366582 ; oboInOwl:hasExactSynonym "S100A8", "calgranulin a", "calprotectin", @@ -19758,7 +20223,9 @@ OMIM:123885 a owl:Class ; "s100a8/s100a9 complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6279 ; - skos:exactMatch HGNC_symbol:S100A8 ; + skos:exactMatch UMLS:C1366582, + HGNC:10498, + HGNC_symbol:S100A8 ; biolink:category biolink:Gene . OMIM:123886 a owl:Class ; @@ -19775,7 +20242,6 @@ OMIM:123886 a owl:Class ; PMID:24975020, PMID:3313057, PMID:7759097 ; - oboInOwl:hasDbXref UMLS:C1335798 ; oboInOwl:hasExactSynonym "S100A9", "calgranulin B", "calprotectin", @@ -19785,7 +20251,9 @@ OMIM:123886 a owl:Class ; "s100a9/s100a8 complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6280 ; - skos:exactMatch HGNC_symbol:S100A9 ; + skos:exactMatch UMLS:C1335798, + HGNC:10499, + HGNC_symbol:S100A9 ; biolink:category biolink:Gene . OMIM:123889 a owl:Class ; @@ -19802,14 +20270,15 @@ OMIM:123889 a owl:Class ; PMID:9463407 ; RO:0002525 CHR:9606chr21q22.11 ; RO:0003303 OMIM:610424 ; - oboInOwl:hasDbXref UMLS:C1334097 ; oboInOwl:hasExactSynonym "IL10RB", "cytokine receptor family ii, member 4", "il10r2", "interleukin 10 receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3588 ; - skos:exactMatch HGNC_symbol:IL10RB ; + skos:exactMatch UMLS:C1334097, + HGNC:5965, + HGNC_symbol:IL10RB ; biolink:category biolink:Gene . OMIM:123890 a owl:Class ; @@ -19873,20 +20342,21 @@ OMIM:123890 a owl:Class ; PMID:9632449 ; RO:0002525 CHR:9606chr2q33.2 ; RO:0003303 OMIM:152700 ; - oboInOwl:hasDbXref UMLS:C1332802, - UMLS:C1833450, - UMLS:C1852391, - UMLS:C1857845, - UMLS:C3862275, - UMLS:C4015214, - UMLS:C5436965 ; oboInOwl:hasExactSynonym "CTLA4", "cd152", "cytotoxic t lymphocyte-associated 4", "cytotoxic t lymphocyte-associated 4, soluble isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1493 ; - skos:exactMatch HGNC_symbol:CTLA4 ; + skos:exactMatch UMLS:C1332802, + UMLS:C1833450, + UMLS:C1852391, + UMLS:C1857845, + UMLS:C3862275, + UMLS:C4015214, + UMLS:C5436965, + HGNC:2505, + HGNC_symbol:CTLA4 ; biolink:category biolink:Gene . OMIM:123900 a owl:Class ; @@ -19908,14 +20378,15 @@ OMIM:123900 a owl:Class ; PMID:2674140, PMID:8162705, PMID:9921900 ; - oboInOwl:hasDbXref UMLS:C1421450 ; oboInOwl:hasExactSynonym "EZR", "cytovillin", "ezrin", "villin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7430 ; - skos:exactMatch HGNC_symbol:EZR ; + skos:exactMatch UMLS:C1421450, + HGNC:12691, + HGNC_symbol:EZR ; biolink:category biolink:Gene . OMIM:123910 a owl:Class ; @@ -19934,7 +20405,6 @@ OMIM:123910 a owl:Class ; PMID:2788607, PMID:3090449, PMID:3182016 ; - oboInOwl:hasDbXref UMLS:C1415380 ; oboInOwl:hasExactSynonym "GZMB", "cathepsin g-like 1", "cytotoxic t-lymphocyte-associated serine esterase 1", @@ -19943,7 +20413,9 @@ OMIM:123910 a owl:Class ; "protease, serine, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3002 ; - skos:exactMatch HGNC_symbol:GZMB ; + skos:exactMatch UMLS:C1415380, + HGNC:4709, + HGNC_symbol:GZMB ; biolink:category biolink:Gene . OMIM:123920 a owl:Class ; @@ -19957,12 +20429,13 @@ OMIM:123920 a owl:Class ; PMID:8422236, PMID:9292531, PMID:9878810 ; - oboInOwl:hasDbXref UMLS:C1413247 ; oboInOwl:hasExactSynonym "CDA", "cytidine deaminase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:978 ; - skos:exactMatch HGNC_symbol:CDA ; + skos:exactMatch UMLS:C1413247, + HGNC:1712, + HGNC_symbol:CDA ; biolink:category biolink:Gene . OMIM:123940 a owl:Class ; @@ -19977,7 +20450,6 @@ OMIM:123940 a owl:Class ; PMID:7493030 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:193900 ; - oboInOwl:hasDbXref UMLS:C1416741 ; oboInOwl:hasExactSynonym "KRT4", "cytokeratin 4", "k4", @@ -19985,7 +20457,9 @@ OMIM:123940 a owl:Class ; "keratin 4, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3851 ; - skos:exactMatch HGNC_symbol:KRT4 ; + skos:exactMatch UMLS:C1416741, + HGNC:6441, + HGNC_symbol:KRT4 ; biolink:category biolink:Gene . OMIM:123950 a owl:Class ; @@ -20011,13 +20485,14 @@ OMIM:123970 a owl:Class ; PMID:9989401 ; RO:0002525 CHR:9606chr7p15.3 ; RO:0003303 OMIM:612004 ; - oboInOwl:hasDbXref UMLS:C1426584 ; oboInOwl:hasExactSynonym "CYCS", "cytochrome c", "cytochrome c, somatic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54205 ; - skos:exactMatch HGNC_symbol:CYCS ; + skos:exactMatch UMLS:C1426584, + HGNC:19986, + HGNC_symbol:CYCS ; biolink:category biolink:Gene . OMIM:123980 a owl:Class ; @@ -20029,12 +20504,13 @@ OMIM:123980 a owl:Class ; PMID:8188279 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:615453 ; - oboInOwl:hasDbXref UMLS:C1413845 ; oboInOwl:hasExactSynonym "CYC1", "cytochrome c1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1537 ; - skos:exactMatch HGNC_symbol:CYC1 ; + skos:exactMatch UMLS:C1413845, + HGNC:2579, + HGNC_symbol:CYC1 ; biolink:category biolink:Gene . OMIM:123995 a owl:Class ; @@ -20042,14 +20518,15 @@ OMIM:123995 a owl:Class ; IAO:0000142 PMID:1327965, PMID:2550906, PMID:9344674 ; - oboInOwl:hasDbXref UMLS:C1413655 ; oboInOwl:hasExactSynonym "COX7A1", "cytochrome c oxidase, subunit 7a1", "cytochrome c oxidase, subunit viia, muscle isoform", "cytochrome c oxidase, subunit viia, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1346 ; - skos:exactMatch HGNC_symbol:COX7A1 ; + skos:exactMatch UMLS:C1413655, + HGNC:2287, + HGNC_symbol:COX7A1 ; biolink:category biolink:Gene . OMIM:123996 a owl:Class ; @@ -20057,7 +20534,6 @@ OMIM:123996 a owl:Class ; IAO:0000142 PMID:11004498, PMID:2550906, PMID:9202412 ; - oboInOwl:hasDbXref UMLS:C1413656 ; oboInOwl:hasExactSynonym "COX7A2", "cox7al", "cytochrome c oxidase, subunit 7a2", @@ -20065,7 +20541,9 @@ OMIM:123996 a owl:Class ; "cytochrome c oxidase, subunit viia, polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1347 ; - skos:exactMatch HGNC_symbol:COX7A2 ; + skos:exactMatch UMLS:C1413656, + HGNC:2288, + HGNC_symbol:COX7A2 ; biolink:category biolink:Gene . OMIM:124010 a owl:Class ; @@ -20117,10 +20595,6 @@ OMIM:124010 a owl:Class ; PMID:9789061 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:619073 ; - oboInOwl:hasDbXref UMLS:C1176140, - UMLS:C4016007, - UMLS:C4017437, - UMLS:C5436733 ; oboInOwl:hasExactSynonym "CYP3A4", "cyp3", "cytochrome p450, subfamily iiia, polypeptide 4", @@ -20131,7 +20605,12 @@ OMIM:124010 a owl:Class ; "p450-iii, steroid-inducible" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1576 ; - skos:exactMatch HGNC_symbol:CYP3A4 ; + skos:exactMatch UMLS:C1176140, + UMLS:C4016007, + UMLS:C4017437, + UMLS:C5436733, + HGNC:2637, + HGNC_symbol:CYP3A4 ; biolink:category biolink:Gene . OMIM:124015 a owl:Class ; @@ -20153,13 +20632,14 @@ OMIM:124015 a owl:Class ; PMID:9360545 ; RO:0002525 CHR:9606chr7q11.23 ; RO:0003303 OMIM:613571 ; - oboInOwl:hasDbXref UMLS:C1335232 ; oboInOwl:hasExactSynonym "POR", "cytochrome p450 oxidoreductase", "cytochrome p450 reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5447 ; - skos:exactMatch HGNC_symbol:POR ; + skos:exactMatch UMLS:C1335232, + HGNC:9208, + HGNC_symbol:POR ; biolink:category biolink:Gene . OMIM:124020 a owl:Class ; @@ -20195,7 +20675,6 @@ OMIM:124020 a owl:Class ; PMID:9435198 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:609535 ; - oboInOwl:hasDbXref UMLS:C1332828 ; oboInOwl:hasExactSynonym "CYP2C19", "cyp2c", "cytochrome p450, subfamily iic, polypeptide 19", @@ -20203,7 +20682,9 @@ OMIM:124020 a owl:Class ; "p450c2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1557 ; - skos:exactMatch HGNC_symbol:CYP2C19 ; + skos:exactMatch UMLS:C1332828, + HGNC:2621, + HGNC_symbol:CYP2C19 ; biolink:category biolink:Gene . OMIM:124030 a owl:Class ; @@ -20271,7 +20752,6 @@ OMIM:124030 a owl:Class ; PMID:9931507 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:608902 ; - oboInOwl:hasDbXref UMLS:C1332830 ; oboInOwl:hasExactSynonym "CYP2D6", "cpd6", "cytochrome p450, subfamily iid, polypeptide 6", @@ -20279,7 +20759,9 @@ OMIM:124030 a owl:Class ; "p450db1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1565 ; - skos:exactMatch HGNC_symbol:CYP2D6 ; + skos:exactMatch UMLS:C1332830, + HGNC:2625, + HGNC_symbol:CYP2D6 ; biolink:category biolink:Gene . OMIM:124040 a owl:Class ; @@ -20297,14 +20779,15 @@ OMIM:124040 a owl:Class ; PMID:3829886, PMID:8307581, PMID:9194910 ; - oboInOwl:hasDbXref UMLS:C0919426 ; oboInOwl:hasExactSynonym "CYP2E1", "cytochrome p450, subfamily 2e", "ethanol-inducible p450", "p450c2e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1571 ; - skos:exactMatch HGNC_symbol:CYP2E1 ; + skos:exactMatch UMLS:C0919426, + HGNC:2631, + HGNC_symbol:CYP2E1 ; biolink:category biolink:Gene . OMIM:124050 a owl:Class ; @@ -20316,14 +20799,15 @@ OMIM:124050 a owl:Class ; PMID:20538972, PMID:20933022, PMID:21608 ; - oboInOwl:hasDbXref UMLS:C1413903 ; oboInOwl:hasExactSynonym "DAO", "d-amino acid oxidase", "daao", "damox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1610 ; - skos:exactMatch HGNC_symbol:DAO ; + skos:exactMatch UMLS:C1413903, + HGNC:2671, + HGNC_symbol:DAO ; biolink:category biolink:Gene . OMIM:124060 a owl:Class ; @@ -20347,9 +20831,6 @@ OMIM:124060 a owl:Class ; PMID:8287062, PMID:8643688, PMID:8873215 ; - oboInOwl:hasDbXref UMLS:C1332826, - UMLS:C1852336, - UMLS:C1852337 ; oboInOwl:hasExactSynonym "CYP1A2", "cytochrome p-450, aromatic compound-inducible", "cytochrome p450, subfamily i, polypeptide 2", @@ -20358,7 +20839,11 @@ OMIM:124060 a owl:Class ; "phenacetin o-deethylase, deficiency of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1544 ; - skos:exactMatch HGNC_symbol:CYP1A2 ; + skos:exactMatch UMLS:C1332826, + UMLS:C1852336, + UMLS:C1852337, + HGNC:2596, + HGNC_symbol:CYP1A2 ; biolink:category biolink:Gene . OMIM:124070 a owl:Class ; @@ -20366,12 +20851,13 @@ OMIM:124070 a owl:Class ; IAO:0000142 PMID:1974816, PMID:2045106, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1413878 ; oboInOwl:hasExactSynonym "CYP2F1", "cytochrome p450, subfamily iif, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1572 ; - skos:exactMatch HGNC_symbol:CYP2F1 ; + skos:exactMatch UMLS:C1413878, + HGNC:2632, + HGNC_symbol:CYP2F1 ; biolink:category biolink:Gene . OMIM:124075 a owl:Class ; @@ -20379,12 +20865,13 @@ OMIM:124075 a owl:Class ; IAO:0000142 PMID:10768437, PMID:11062028, PMID:2574990 ; - oboInOwl:hasDbXref UMLS:C1413887 ; oboInOwl:hasExactSynonym "CYP4B1", "cytochrome p450, subfamily ivb, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1580 ; - skos:exactMatch HGNC_symbol:CYP4B1 ; + skos:exactMatch UMLS:C1413887, + HGNC:2644, + HGNC_symbol:CYP4B1 ; biolink:category biolink:Gene . OMIM:124080 a owl:Class ; @@ -20425,8 +20912,6 @@ OMIM:124080 a owl:Class ; PMID:9625333, PMID:9814506 ; RO:0002525 CHR:9606chr8q24.3 ; - oboInOwl:hasDbXref UMLS:C1413857, - UMLS:C1852324 ; oboInOwl:hasExactSynonym "CYP11B2", "aldosterone synthase", "aldosterone to renin ratio, increased", @@ -20439,7 +20924,10 @@ OMIM:124080 a owl:Class ; "steroid 18-oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1585 ; - skos:exactMatch HGNC_symbol:CYP11B2 ; + skos:exactMatch UMLS:C1413857, + UMLS:C1852324, + HGNC:2592, + HGNC_symbol:CYP11B2 ; biolink:category biolink:Gene . OMIM:124089 a owl:Class ; @@ -20451,15 +20939,16 @@ OMIM:124089 a owl:Class ; PMID:2537962 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:619051 ; - oboInOwl:hasDbXref UMLS:C1539128, - UMLS:C5436685 ; oboInOwl:hasExactSynonym "COX6B1", "cytochrome c oxidase, subunit 6b1", "cytochrome c oxidase, subunit vib", "cytochrome c oxidase, subunit vib, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1340 ; - skos:exactMatch HGNC_symbol:COX6B1 ; + skos:exactMatch UMLS:C1539128, + UMLS:C5436685, + HGNC:2280, + HGNC_symbol:COX6B1 ; biolink:category biolink:Gene . OMIM:124090 a owl:Class ; @@ -20468,15 +20957,16 @@ OMIM:124090 a owl:Class ; PMID:10679920, PMID:2849755, PMID:9752724 ; - oboInOwl:hasDbXref UMLS:C1332776, - UMLS:C1852321 ; oboInOwl:hasExactSynonym "COX6C", "cox6c/hmgic fusion gene", "cytochrome c oxidase, subunit 6c", "cytochrome c oxidase, subunit vic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1345 ; - skos:exactMatch HGNC_symbol:COX6C ; + skos:exactMatch UMLS:C1332776, + UMLS:C1852321, + HGNC:2285, + HGNC_symbol:COX6C ; biolink:category biolink:Gene . OMIM:124092 a owl:Class ; @@ -20544,13 +21034,14 @@ OMIM:124092 a owl:Class ; PMID:9689103 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:180300 ; - oboInOwl:hasDbXref UMLS:C1334098 ; oboInOwl:hasExactSynonym "IL10", "cytokine synthesis inhibitory factor", "interleukin 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3586 ; - skos:exactMatch HGNC_symbol:IL10 ; + skos:exactMatch UMLS:C1334098, + HGNC:5962, + HGNC_symbol:IL10 ; biolink:category biolink:Gene . OMIM:124095 a owl:Class ; @@ -20560,14 +21051,15 @@ OMIM:124095 a owl:Class ; PMID:1945408, PMID:23042117, PMID:8890164 ; - oboInOwl:hasDbXref UMLS:C1332794 ; oboInOwl:hasExactSynonym "CSK", "c-src tyrosine kinase", "c-terminal src kinase", "cytoplasmic tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1445 ; - skos:exactMatch HGNC_symbol:CSK ; + skos:exactMatch UMLS:C1332794, + HGNC:2444, + HGNC_symbol:CSK ; biolink:category biolink:Gene . OMIM:124097 a owl:Class ; @@ -20578,7 +21070,6 @@ OMIM:124097 a owl:Class ; PMID:7835883, PMID:8786133, PMID:8903733 ; - oboInOwl:hasDbXref UMLS:C1413924 ; oboInOwl:hasExactSynonym "DBP", "d site of albumin promoter-binding protein", "d-box-binding par bzip transcription factor", @@ -20586,7 +21077,9 @@ OMIM:124097 a owl:Class ; "transcription factor dbp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1628 ; - skos:exactMatch HGNC_symbol:DBP ; + skos:exactMatch UMLS:C1413924, + HGNC:2697, + HGNC_symbol:DBP ; biolink:category biolink:Gene . OMIM:124100 a owl:Class ; @@ -20599,39 +21092,40 @@ OMIM:124100 a owl:Class ; PMID:8730422, PMID:8770970, PMID:9797928 ; - oboInOwl:hasDbXref UMLS:C0004698 ; oboInOwl:hasExactSynonym "balkan endemic nephropathy", "danubian endemic familial nephropathy", "defn", - "nephropathia epidemica" . + "nephropathia epidemica" ; + skos:exactMatch UMLS:C0004698 . OMIM:124300 a owl:Class ; rdfs:label "darwinian tubercle of pinna" ; IAO:0000142 PMID:15887280 ; - oboInOwl:hasDbXref UMLS:C1852294, - UMLS:C2751189 ; oboInOwl:hasExactSynonym "darwinian notch", "darwinian point of pinna", "darwinian tubercle of pinna" ; + skos:exactMatch UMLS:C1852294, + UMLS:C2751189 ; biolink:category biolink:Disease . OMIM:124400 a owl:Class ; rdfs:label "darwinian tubercle of pinna" ; - oboInOwl:hasDbXref UMLS:C1852294 ; - oboInOwl:hasExactSynonym "darwinian tubercle of pinna" . + oboInOwl:hasExactSynonym "darwinian tubercle of pinna" ; + skos:exactMatch UMLS:C1852294 . OMIM:124450 a owl:Class ; rdfs:label "DDO" ; IAO:0000142 PMID:21608, PMID:9148742, PMID:9163533 ; - oboInOwl:hasDbXref UMLS:C1413948 ; oboInOwl:hasExactSynonym "DDO", "d-aspartate oxidase", "dasox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8528 ; - skos:exactMatch HGNC_symbol:DDO ; + skos:exactMatch UMLS:C1413948, + HGNC:2727, + HGNC_symbol:DDO ; biolink:category biolink:Gene . OMIM:124480 a owl:Class ; @@ -20644,17 +21138,17 @@ OMIM:124480 a owl:Class ; PMID:5056117, PMID:5806072, PMID:9929981 ; - oboInOwl:hasDbXref UMLS:C2675730 ; oboInOwl:hasExactSynonym "DDOD", "ddod syndrome", "deafness, congenital, with onychodystrophy, autosomal dominant" ; + skos:exactMatch UMLS:C2675730 ; biolink:category biolink:Disease . OMIM:124490 a owl:Class ; rdfs:label "deafness, conductive stapedial, with ear malformation and facial palsy" ; IAO:0000142 PMID:6851230 ; - oboInOwl:hasDbXref UMLS:C1852292 ; - oboInOwl:hasExactSynonym "deafness, conductive stapedial, with ear malformation and facial palsy" . + oboInOwl:hasExactSynonym "deafness, conductive stapedial, with ear malformation and facial palsy" ; + skos:exactMatch UMLS:C1852292 . OMIM:124580 a owl:Class ; owl:deprecated true . @@ -20662,8 +21156,8 @@ OMIM:124580 a owl:Class ; OMIM:124700 a owl:Class ; rdfs:label "deafness, mid-tone neural" ; IAO:0000142 PMID:14007153 ; - oboInOwl:hasDbXref UMLS:C1852283 ; oboInOwl:hasExactSynonym "deafness, mid-tone neural" ; + skos:exactMatch UMLS:C1852283 ; biolink:category biolink:Disease . OMIM:124800 a owl:Class ; @@ -20677,19 +21171,19 @@ OMIM:124910 a owl:Class ; OMIM:124950 a owl:Class ; rdfs:label "deafness, sensorineural, with peripheral neuropathy and arterial disease" ; IAO:0000142 PMID:14812047 ; - oboInOwl:hasDbXref UMLS:C1852280 ; - oboInOwl:hasExactSynonym "deafness, sensorineural, with peripheral neuropathy and arterial disease" . + oboInOwl:hasExactSynonym "deafness, sensorineural, with peripheral neuropathy and arterial disease" ; + skos:exactMatch UMLS:C1852280 . OMIM:125000 a owl:Class ; rdfs:label "deafness, unilateral" ; - oboInOwl:hasDbXref UMLS:C2607947 ; - oboInOwl:hasExactSynonym "deafness, unilateral" . + oboInOwl:hasExactSynonym "deafness, unilateral" ; + skos:exactMatch UMLS:C2607947 . OMIM:125050 a owl:Class ; rdfs:label "deafness with anhidrotic ectodermal dysplasia" ; IAO:0000142 PMID:20279748 ; - oboInOwl:hasDbXref UMLS:C1852279 ; - oboInOwl:hasExactSynonym "deafness with anhidrotic ectodermal dysplasia" . + oboInOwl:hasExactSynonym "deafness with anhidrotic ectodermal dysplasia" ; + skos:exactMatch UMLS:C1852279 . OMIM:125100 a owl:Class ; IAO:0100001 OMIM:602588 ; @@ -20698,8 +21192,8 @@ OMIM:125100 a owl:Class ; OMIM:125230 a owl:Class ; rdfs:label "deafness-craniofacial syndrome" ; IAO:0000142 PMID:3690878 ; - oboInOwl:hasDbXref UMLS:C1852278 ; - oboInOwl:hasExactSynonym "deafness-craniofacial syndrome" . + oboInOwl:hasExactSynonym "deafness-craniofacial syndrome" ; + skos:exactMatch UMLS:C1852278 . OMIM:125240 a owl:Class ; rdfs:label "CD55" ; @@ -20727,13 +21221,14 @@ OMIM:125240 a owl:Class ; PMID:9675792 ; RO:0002525 CHR:9606chr1q32.2 ; RO:0003303 OMIM:613793 ; - oboInOwl:hasDbXref UMLS:C1824670 ; oboInOwl:hasExactSynonym "CD55", "cd55 antigen", "decay-accelerating factor for complement" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1604 ; - skos:exactMatch HGNC_symbol:CD55 ; + skos:exactMatch UMLS:C1824670, + HGNC:2665, + HGNC_symbol:CD55 ; biolink:category biolink:Gene . OMIM:125250 a owl:Class ; @@ -20753,11 +21248,11 @@ OMIM:125250 a owl:Class ; PMID:4058877, PMID:4544000, PMID:6493699 ; - oboInOwl:hasDbXref UMLS:C3276549, - ORPHA:1215, - ORPHA:3212 ; oboInOwl:hasExactSynonym "dominant optic atrophy plus syndrome", "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" ; + skos:exactMatch UMLS:C3276549, + ORPHA:1215, + ORPHA:3212 ; biolink:category biolink:Disease . OMIM:125255 a owl:Class ; @@ -20784,7 +21279,6 @@ OMIM:125255 a owl:Class ; PMID:9435313 ; RO:0002525 CHR:9606chr12q21.33 ; RO:0003303 OMIM:610048 ; - oboInOwl:hasDbXref UMLS:C1413930 ; oboInOwl:hasExactSynonym "DCN", "decorin", "dermatan sulfate proteoglycan 2", @@ -20793,7 +21287,9 @@ OMIM:125255 a owl:Class ; "proteoglycan 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1634 ; - skos:exactMatch HGNC_symbol:DCN ; + skos:exactMatch UMLS:C1413930, + HGNC:2705, + HGNC_symbol:DCN ; biolink:category biolink:Gene . OMIM:125263 a owl:Class ; @@ -20805,7 +21301,6 @@ OMIM:125263 a owl:Class ; PMID:7710689, PMID:7736787, PMID:8575776 ; - oboInOwl:hasDbXref UMLS:C1420519 ; oboInOwl:hasExactSynonym "SULT2A1", "dehydroepiandrosterone sulfotransferase", "dhea sulfotransferase", @@ -20813,7 +21308,9 @@ OMIM:125263 a owl:Class ; "sulfotransferase, dehydroepiandrosterone-preferring" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6822 ; - skos:exactMatch HGNC_symbol:SULT2A1 ; + skos:exactMatch UMLS:C1420519, + HGNC:11458, + HGNC_symbol:SULT2A1 ; biolink:category biolink:Gene . OMIM:125264 a owl:Class ; @@ -20827,15 +21324,16 @@ OMIM:125264 a owl:Class ; PMID:25278611, PMID:9050861 ; RO:0002525 CHR:9606chr6p22.3 ; - oboInOwl:hasDbXref UMLS:C1333214, - UMLS:C1861917 ; oboInOwl:hasExactSynonym "DEK", "d6s231e", "dek oncogene", "dek/nup214 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7913 ; - skos:exactMatch HGNC_symbol:DEK ; + skos:exactMatch UMLS:C1333214, + UMLS:C1861917, + HGNC:2768, + HGNC_symbol:DEK ; biolink:category biolink:Gene . OMIM:125265 a owl:Class ; @@ -20844,7 +21342,6 @@ OMIM:125265 a owl:Class ; PMID:16469703, PMID:1651174, PMID:1678319 ; - oboInOwl:hasDbXref UMLS:C1327771 ; oboInOwl:hasExactSynonym "REEP5", "chromosome 5 open reading frame 18", "d5s346", @@ -20854,7 +21351,9 @@ OMIM:125265 a owl:Class ; "yop1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7905 ; - skos:exactMatch HGNC_symbol:REEP5 ; + skos:exactMatch UMLS:C1327771, + HGNC:30077, + HGNC_symbol:REEP5 ; biolink:category biolink:Gene . OMIM:125270 a owl:Class ; @@ -20887,21 +21386,22 @@ OMIM:125270 a owl:Class ; PMID:9618062 ; RO:0002525 CHR:9606chr9q32 ; RO:0003303 OMIM:612740 ; - oboInOwl:hasDbXref UMLS:C1439270 ; oboInOwl:hasExactSynonym "ALAD", "aladh", "delta-aminolevulinate dehydratase", "porphobilinogen synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:210 ; - skos:exactMatch HGNC_symbol:ALAD ; + skos:exactMatch UMLS:C1439270, + HGNC:395, + HGNC_symbol:ALAD ; biolink:category biolink:Gene . OMIM:125280 a owl:Class ; rdfs:label "dens evaginatus" ; IAO:0000142 PMID:282548 ; - oboInOwl:hasDbXref UMLS:C0266034 ; - oboInOwl:hasExactSynonym "dens evaginatus" . + oboInOwl:hasExactSynonym "dens evaginatus" ; + skos:exactMatch UMLS:C0266034 . OMIM:125290 a owl:Class ; rdfs:label "ALAS1" ; @@ -20911,21 +21411,22 @@ OMIM:125290 a owl:Class ; PMID:3414687, PMID:3671094, PMID:7698013 ; - oboInOwl:hasDbXref UMLS:C1412330 ; oboInOwl:hasExactSynonym "ALAS1", "alas", "alas, housekeeping iia", "delta-aminolevulinate synthase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:211 ; - skos:exactMatch HGNC_symbol:ALAS1 ; + skos:exactMatch UMLS:C1412330, + HGNC:396, + HGNC_symbol:ALAS1 ; biolink:category biolink:Gene . OMIM:125300 a owl:Class ; rdfs:label "dens 1n dente and palatal invaginations" ; IAO:0000142 PMID:13477660 ; - oboInOwl:hasDbXref UMLS:C1852250 ; - oboInOwl:hasExactSynonym "dens 1n dente and palatal invaginations" . + oboInOwl:hasExactSynonym "dens 1n dente and palatal invaginations" ; + skos:exactMatch UMLS:C1852250 . OMIM:125305 a owl:Class ; rdfs:label "EPB49" ; @@ -20937,13 +21438,14 @@ OMIM:125305 a owl:Class ; PMID:8341682, PMID:8434261, PMID:8608138 ; - oboInOwl:hasDbXref UMLS:C1414427 ; oboInOwl:hasExactSynonym "EPB49", "dematin", "erythrocyte membrane protein band 4.9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2039 ; - skos:exactMatch HGNC_symbol:DMTN ; + skos:exactMatch UMLS:C1414427, + HGNC:3382, + HGNC_symbol:DMTN ; biolink:category biolink:Gene . OMIM:125310 a owl:Class ; @@ -20994,22 +21496,22 @@ OMIM:125310 a owl:Class ; PMID:8878478, PMID:9541301, PMID:9818928 ; - oboInOwl:hasDbXref UMLS:C0751587, - UMLS:C4551768, - ORPHA:136 ; oboInOwl:hasExactSynonym "CADASIL1", "cadasil", "casil", "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1", "dementia, hereditary multiinfarct iia" ; rdfs:subClassOf OMIMPS:125310 ; + skos:exactMatch UMLS:C0751587, + UMLS:C4551768, + ORPHA:136 ; biolink:category biolink:Disease . OMIM:125320 a owl:Class ; rdfs:label "dementia/parkinsonism with non-alzheimer amyloid plaques" ; IAO:0000142 PMID:2645825 ; - oboInOwl:hasDbXref UMLS:C1852223 ; - oboInOwl:hasExactSynonym "dementia/parkinsonism with non-alzheimer amyloid plaques" . + oboInOwl:hasExactSynonym "dementia/parkinsonism with non-alzheimer amyloid plaques" ; + skos:exactMatch UMLS:C1852223 . OMIM:125350 a owl:Class ; rdfs:label "failure of tooth eruption, primary" ; @@ -21023,8 +21525,6 @@ OMIM:125350 a owl:Class ; PMID:639339, PMID:6943937, PMID:9096818 ; - oboInOwl:hasDbXref UMLS:C1852222, - ORPHA:412206 ; oboInOwl:hasExactSynonym "PFE", "dental noneruption", "failure of tooth eruption, primary", @@ -21032,6 +21532,8 @@ OMIM:125350 a owl:Class ; "primary failure of tooth eruption, nonsyndromic", "primary retention of teeth", "unerupted second primary molar" ; + skos:exactMatch UMLS:C1852222, + ORPHA:412206 ; biolink:category biolink:Disease . OMIM:125420 a owl:Class ; @@ -21047,7 +21549,6 @@ OMIM:125420 a owl:Class ; PMID:7553375, PMID:9493074, PMID:9720092 ; - oboInOwl:hasDbXref UMLS:C0399380 ; oboInOwl:hasExactSynonym "DTDP2", "anomalous dysplasia of dentin", "coronal dentin dysplasia", @@ -21055,13 +21556,14 @@ OMIM:125420 a owl:Class ; "dentin dysplasia, shields iia 2", "pulp stones", "pulpal dysplasia" ; + skos:exactMatch UMLS:C0399380 ; biolink:category biolink:Disease . OMIM:125440 a owl:Class ; rdfs:label "dentin dysplasia with sclerotic bones" ; IAO:0000142 PMID:264650 ; - oboInOwl:hasDbXref UMLS:C1852201 ; oboInOwl:hasExactSynonym "dentin dysplasia with sclerotic bones" ; + skos:exactMatch UMLS:C1852201 ; biolink:category biolink:Disease . OMIM:125450 a owl:Class ; @@ -21071,12 +21573,13 @@ OMIM:125450 a owl:Class ; PMID:8406512, PMID:8421671, PMID:9342341 ; - oboInOwl:hasDbXref UMLS:C1333205 ; oboInOwl:hasExactSynonym "DCK", "deoxycytidine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1633 ; - skos:exactMatch HGNC_symbol:DCK ; + skos:exactMatch UMLS:C1333205, + HGNC:2704, + HGNC_symbol:DCK ; biolink:category biolink:Gene . OMIM:125460 a owl:Class ; @@ -21084,8 +21587,8 @@ OMIM:125460 a owl:Class ; IAO:0000142 PMID:431622, PMID:526564, PMID:6422138 ; - oboInOwl:hasDbXref UMLS:C1852200 ; - oboInOwl:hasExactSynonym "deoxyribose-5-phosphate aldolase deficiency" . + oboInOwl:hasExactSynonym "deoxyribose-5-phosphate aldolase deficiency" ; + skos:exactMatch UMLS:C1852200 . OMIM:125485 a owl:Class ; rdfs:label "DSPP" ; @@ -21110,7 +21613,6 @@ OMIM:125485 a owl:Class ; PMID:9533027 ; RO:0002525 CHR:9606chr4q22.1 ; RO:0003303 OMIM:125500 ; - oboInOwl:hasDbXref UMLS:C1414174 ; oboInOwl:hasExactSynonym "DSPP", "dentin phosphophoryn", "dentin phosphoprotein", @@ -21118,7 +21620,9 @@ OMIM:125485 a owl:Class ; "dentin sialoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1834 ; - skos:exactMatch HGNC_symbol:DSPP ; + skos:exactMatch UMLS:C1414174, + HGNC:3054, + HGNC_symbol:DSPP ; biolink:category biolink:Gene . OMIM:125490 a owl:Class ; @@ -21139,7 +21643,6 @@ OMIM:125490 a owl:Class ; PMID:7103411, PMID:7573043, PMID:7665163 ; - oboInOwl:hasDbXref UMLS:C2973527 ; oboInOwl:hasExactSynonym "DGI1", "capdepont teeth", "dentinogenesis imperfecta 1", @@ -21148,6 +21651,7 @@ OMIM:125490 a owl:Class ; "dgi-ii", "opalescent dentin", "opalescent teeth without osteogenesis imperfecta" ; + skos:exactMatch UMLS:C2973527 ; biolink:category biolink:Disease . OMIM:125505 a owl:Class ; @@ -21162,13 +21666,14 @@ OMIM:125505 a owl:Class ; PMID:7789176 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:152700 ; - oboInOwl:hasDbXref UMLS:C1414107 ; oboInOwl:hasExactSynonym "DNASE1", "deoxyribonuclease 1", "dnase i, lysosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1773 ; - skos:exactMatch HGNC_symbol:DNASE1 ; + skos:exactMatch UMLS:C1414107, + HGNC:2956, + HGNC_symbol:DNASE1 ; biolink:category biolink:Gene . OMIM:125510 a owl:Class ; @@ -21178,8 +21683,8 @@ OMIM:125530 a owl:Class ; rdfs:label "dermal ridges, nelson syndrome" ; IAO:0000142 PMID:4742038, PMID:4760583 ; - oboInOwl:hasDbXref UMLS:C1852161 ; - oboInOwl:hasExactSynonym "dermal ridges, nelson syndrome" . + oboInOwl:hasExactSynonym "dermal ridges, nelson syndrome" ; + skos:exactMatch UMLS:C1852161 . OMIM:125540 a owl:Class ; rdfs:label "dermal ridges, patternless" ; @@ -21187,8 +21692,8 @@ OMIM:125540 a owl:Class ; PMID:5046904, PMID:5101661, PMID:663617 ; - oboInOwl:hasDbXref UMLS:C1852160 ; oboInOwl:hasExactSynonym "dermal ridges, patternless" ; + skos:exactMatch UMLS:C1852160 ; biolink:category biolink:Disease . OMIM:125550 a owl:Class ; @@ -21196,30 +21701,30 @@ OMIM:125550 a owl:Class ; IAO:0000142 PMID:4742038, PMID:4760583, PMID:5092711 ; - oboInOwl:hasDbXref UMLS:C1852159 ; oboInOwl:hasExactSynonym "ROES", "dermal ridges-off-the-end", "ridges-off-the-end syndrome" ; + skos:exactMatch UMLS:C1852159 ; biolink:category biolink:Disease . OMIM:125570 a owl:Class ; rdfs:label "dermatoglyphics--arch on any digit" ; IAO:0000142 PMID:16411220, PMID:292307 ; - oboInOwl:hasDbXref UMLS:C1852158 ; - oboInOwl:hasExactSynonym "dermatoglyphics--arch on any digit" . + oboInOwl:hasExactSynonym "dermatoglyphics--arch on any digit" ; + skos:exactMatch UMLS:C1852158 . OMIM:125580 a owl:Class ; rdfs:label "dermatoglyphics--finger ridge count" ; IAO:0000142 PMID:4785872 ; - oboInOwl:hasDbXref UMLS:C1852157 ; - oboInOwl:hasExactSynonym "dermatoglyphics--finger ridge count" . + oboInOwl:hasExactSynonym "dermatoglyphics--finger ridge count" ; + skos:exactMatch UMLS:C1852157 . OMIM:125590 a owl:Class ; rdfs:label "dermatoglyphics--fingerprint pattern" ; IAO:0000142 PMID:1266855 ; - oboInOwl:hasDbXref UMLS:C1852156 ; oboInOwl:hasExactSynonym "dermatoglyphics--fingerprint pattern" ; + skos:exactMatch UMLS:C1852156 ; biolink:category biolink:Disease . OMIM:125595 a owl:Class ; @@ -21229,27 +21734,28 @@ OMIM:125595 a owl:Class ; PMID:1303619, PMID:16960809, PMID:9812038 ; - oboInOwl:hasDbXref UMLS:C0406778 ; oboInOwl:hasExactSynonym "DPR", "dermatopathia pigmentosa reticularis" ; + skos:exactMatch UMLS:C0406778 ; biolink:category biolink:Disease . OMIM:125597 a owl:Class ; rdfs:label "DPT" ; IAO:0000142 PMID:15139000, PMID:8104875 ; - oboInOwl:hasDbXref UMLS:C1414143 ; oboInOwl:hasExactSynonym "DPT", "dermatopontin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1805 ; - skos:exactMatch HGNC_symbol:DPT ; + skos:exactMatch UMLS:C1414143, + HGNC:3011, + HGNC_symbol:DPT ; biolink:category biolink:Gene . OMIM:125600 a owl:Class ; rdfs:label "dermatosis papulosa nigra" ; - oboInOwl:hasDbXref UMLS:C0011645 ; - oboInOwl:hasExactSynonym "dermatosis papulosa nigra" . + oboInOwl:hasExactSynonym "dermatosis papulosa nigra" ; + skos:exactMatch UMLS:C0011645 . OMIM:125635 a owl:Class ; rdfs:label "dermographism, familial" ; @@ -21257,17 +21763,17 @@ OMIM:125635 a owl:Class ; PMID:4105776, PMID:4132652, PMID:7294069 ; - oboInOwl:hasDbXref UMLS:C1852145 ; oboInOwl:hasExactSynonym "dermatographism, familial", - "dermographism, familial" . + "dermographism, familial" ; + skos:exactMatch UMLS:C1852145 . OMIM:125640 a owl:Class ; rdfs:label "dermoodontodysplasia" ; IAO:0000142 PMID:2368802, PMID:6616948 ; - oboInOwl:hasDbXref UMLS:C1852144 ; oboInOwl:hasExactSynonym "dermoodontodysplasia", "ectodermal dysplasia, hair-nail-tooth iia" ; + skos:exactMatch UMLS:C1852144 ; biolink:category biolink:Disease . OMIM:125643 a owl:Class ; @@ -21275,12 +21781,13 @@ OMIM:125643 a owl:Class ; IAO:0000142 PMID:6389579, PMID:7679953, PMID:8288219 ; - oboInOwl:hasDbXref UMLS:C1414156 ; oboInOwl:hasExactSynonym "DSC1", "desmocollin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1823 ; - skos:exactMatch HGNC_symbol:DSC1 ; + skos:exactMatch UMLS:C1414156, + HGNC:3035, + HGNC_symbol:DSC1 ; biolink:category biolink:Gene . OMIM:125645 a owl:Class ; @@ -21298,14 +21805,15 @@ OMIM:125645 a owl:Class ; PMID:9325054 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:610476 ; - oboInOwl:hasDbXref UMLS:C1414157 ; oboInOwl:hasExactSynonym "DSC2", "desmocollin 2", "desmocollin 3, formerly", "desmosomal glycoprotein ii/iii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1824 ; - skos:exactMatch HGNC_symbol:DSC2 ; + skos:exactMatch UMLS:C1414157, + HGNC:3036, + HGNC_symbol:DSC2 ; biolink:category biolink:Gene . OMIM:125647 a owl:Class ; @@ -21342,14 +21850,15 @@ OMIM:125647 a owl:Class ; PMID:9887343 ; RO:0002525 CHR:9606chr6p24.3 ; RO:0003303 OMIM:607655 ; - oboInOwl:hasDbXref UMLS:C1414172 ; oboInOwl:hasExactSynonym "DSP", "desmoplakin", "desmoplakin 1", "desmoplakin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1832 ; - skos:exactMatch HGNC_symbol:DSP ; + skos:exactMatch UMLS:C1414172, + HGNC:3052, + HGNC_symbol:DSP ; biolink:category biolink:Gene . OMIM:125650 a owl:Class ; @@ -21402,15 +21911,16 @@ OMIM:125660 a owl:Class ; PMID:9736733 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:181400 ; - oboInOwl:hasDbXref UMLS:C1413980, - UMLS:C1832370, - UMLS:C1858154, - UMLS:C1867005 ; oboInOwl:hasExactSynonym "DES", "desmin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1674 ; - skos:exactMatch HGNC_symbol:DES ; + skos:exactMatch UMLS:C1413980, + UMLS:C1832370, + UMLS:C1858154, + UMLS:C1867005, + HGNC:2770, + HGNC_symbol:DES ; biolink:category biolink:Gene . OMIM:125670 a owl:Class ; @@ -21432,13 +21942,14 @@ OMIM:125670 a owl:Class ; PMID:8034325 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:148700 ; - oboInOwl:hasDbXref UMLS:C1414168 ; oboInOwl:hasExactSynonym "DSG1", "desmoglein 1", "pemphigus foliaceus antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1828 ; - skos:exactMatch HGNC_symbol:DSG1 ; + skos:exactMatch UMLS:C1414168, + HGNC:3048, + HGNC_symbol:DSG1 ; biolink:category biolink:Gene . OMIM:125671 a owl:Class ; @@ -21453,13 +21964,14 @@ OMIM:125671 a owl:Class ; PMID:8034325 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:612877 ; - oboInOwl:hasDbXref UMLS:C1414169 ; oboInOwl:hasExactSynonym "DSG2", "desmoglein 2", "human desmoglein colon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1829 ; - skos:exactMatch HGNC_symbol:DSG2 ; + skos:exactMatch UMLS:C1414169, + HGNC:3049, + HGNC_symbol:DSG2 ; biolink:category biolink:Gene . OMIM:125850 a owl:Class ; @@ -21480,11 +21992,11 @@ OMIM:125850 a owl:Class ; PMID:8945471, PMID:9294105, PMID:9920109 ; - oboInOwl:hasDbXref UMLS:C1852093 ; oboInOwl:hasExactSynonym "MODY1", "maturity-onset diabetes of the young, iia 1", "mild juvenile diabetes mellitus", "mody, iia 1" ; + skos:exactMatch UMLS:C1852093 ; biolink:category biolink:Disease . OMIM:125852 a owl:Class ; @@ -21518,11 +22030,11 @@ OMIM:125852 a owl:Class ; PMID:9590300, PMID:9662384, PMID:9894356 ; - oboInOwl:hasDbXref UMLS:C1852092 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 2", "T1D2", "diabetes mellitus, insulin-dependent, 2", "insulin-dependent diabetes mellitus 2" ; + skos:exactMatch UMLS:C1852092 ; biolink:category biolink:Disease . OMIM:125855 a owl:Class ; @@ -21535,7 +22047,6 @@ OMIM:125855 a owl:Class ; PMID:7607687, PMID:7959783, PMID:8180475 ; - oboInOwl:hasDbXref UMLS:C1414029 ; oboInOwl:hasExactSynonym "DGKA", "dagk, 80-kd", "dgk-alpha", @@ -21543,7 +22054,9 @@ OMIM:125855 a owl:Class ; "diacylglycerol kinase, alpha, 80-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1606 ; - skos:exactMatch HGNC_symbol:DGKA ; + skos:exactMatch UMLS:C1414029, + HGNC:2849, + HGNC_symbol:DGKA ; biolink:category biolink:Gene . OMIM:125860 a owl:Class ; @@ -21568,10 +22081,6 @@ OMIM:125860 a owl:Class ; PMID:9593466, PMID:9855009 ; RO:0002525 CHR:9606chr16q22.1 ; - oboInOwl:hasDbXref UMLS:C0919428, - UMLS:C2675718, - UMLS:C2675719, - UMLS:C2675722 ; oboInOwl:hasExactSynonym "NQO1", "benzene toxicity, susceptibility to", "breast cancer, post-chemotherapy survival 1n", @@ -21582,7 +22091,12 @@ OMIM:125860 a owl:Class ; "nad(p)h:menadione oxidoreductase 1, dioxin-inducible 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1728 ; - skos:exactMatch HGNC_symbol:NQO1 ; + skos:exactMatch UMLS:C0919428, + UMLS:C2675718, + UMLS:C2675719, + UMLS:C2675722, + HGNC:2874, + HGNC_symbol:NQO1 ; biolink:category biolink:Gene . OMIM:125870 a owl:Class ; @@ -21597,24 +22111,24 @@ OMIM:125880 a owl:Class ; PMID:434772, PMID:563699, PMID:604247 ; - oboInOwl:hasDbXref UMLS:C1852088 ; oboInOwl:hasExactSynonym "DIA3", "diaphorase 3", "gonadal diaphorase", "sperm diaphorase" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1852088 ; biolink:category biolink:Gene . OMIM:125890 a owl:Class ; rdfs:label "diarrhea, glucose-stimulated secretory, with common variable immunodeficiency" ; IAO:0000142 PMID:474604 ; - oboInOwl:hasDbXref UMLS:C1852087 ; - oboInOwl:hasExactSynonym "diarrhea, glucose-stimulated secretory, with common variable immunodeficiency" . + oboInOwl:hasExactSynonym "diarrhea, glucose-stimulated secretory, with common variable immunodeficiency" ; + skos:exactMatch UMLS:C1852087 . OMIM:125900 a owl:Class ; rdfs:label "diastema, dental medial" ; - oboInOwl:hasDbXref UMLS:C1852086 ; - oboInOwl:hasExactSynonym "diastema, dental medial" . + oboInOwl:hasExactSynonym "diastema, dental medial" ; + skos:exactMatch UMLS:C1852086 . OMIM:125950 a owl:Class ; rdfs:label "DBI" ; @@ -21628,22 +22142,23 @@ OMIM:125950 a owl:Class ; PMID:7789980, PMID:8633081, PMID:8755579 ; - oboInOwl:hasDbXref UMLS:C1413917 ; oboInOwl:hasExactSynonym "DBI", "acyl-coa binding protein", "cholecystokinin-releasing peptide, trypsin-sensitive", "diazepam binding inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1622 ; - skos:exactMatch HGNC_symbol:DBI ; + skos:exactMatch UMLS:C1413917, + HGNC:2690, + HGNC_symbol:DBI ; biolink:category biolink:Gene . OMIM:126050 a owl:Class ; rdfs:label "digitotalar dysmorphism" ; IAO:0000142 PMID:5066209 ; - oboInOwl:hasDbXref UMLS:C1852085 ; oboInOwl:hasExactSynonym "digitotalar dysmorphism", "ulnar drift, hereditary" ; + skos:exactMatch UMLS:C1852085 ; biolink:category biolink:Disease . OMIM:126061 a owl:Class ; @@ -21659,13 +22174,14 @@ OMIM:126063 a owl:Class ; PMID:8268217 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:618475 ; - oboInOwl:hasDbXref UMLS:C1414073 ; oboInOwl:hasExactSynonym "DLST", "alpha-ketoglutarate dehydrogenase complex, e2 component", "dihydrolipoamide s-succinyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1743 ; - skos:exactMatch HGNC_symbol:DLST ; + skos:exactMatch UMLS:C1414073, + HGNC:2911, + HGNC_symbol:DLST ; biolink:category biolink:Gene . OMIM:126064 a owl:Class ; @@ -21678,14 +22194,15 @@ OMIM:126064 a owl:Class ; PMID:8211381 ; RO:0002525 CHR:9606chr16q22.2 ; RO:0003303 OMIM:263750 ; - oboInOwl:hasDbXref UMLS:C1333217 ; oboInOwl:hasExactSynonym "DHODH", "dhodehase", "dihydroorotate dehydrogenase", "ura1, yeast, human complement of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1723 ; - skos:exactMatch HGNC_symbol:DHODH ; + skos:exactMatch UMLS:C1333217, + HGNC:2867, + HGNC_symbol:DHODH ; biolink:category biolink:Gene . OMIM:126070 a owl:Class ; @@ -21693,11 +22210,11 @@ OMIM:126070 a owl:Class ; IAO:0000142 PMID:397773, PMID:413191, PMID:4833873 ; - oboInOwl:hasDbXref UMLS:C1876214 ; oboInOwl:hasExactSynonym "albinism, partial", "albinoidism, oculocutaneous, autosomal dominant", "dilution, pigmentary", "hypopigmentation" ; + skos:exactMatch UMLS:C1876214 ; biolink:category biolink:Disease . OMIM:126090 a owl:Class ; @@ -21717,23 +22234,24 @@ OMIM:126090 a owl:Class ; PMID:9760199 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:264070 ; - oboInOwl:hasDbXref UMLS:C1418296 ; oboInOwl:hasExactSynonym "PCBD1", "dimerization cofactor of hepatic nuclear factor 1-alpha", "pcbd", "pterin-4-alpha-carbinolamine dehydratase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5092 ; - skos:exactMatch HGNC_symbol:PCBD1 ; + skos:exactMatch UMLS:C1418296, + HGNC:8646, + HGNC_symbol:PCBD1 ; biolink:category biolink:Gene . OMIM:126100 a owl:Class ; rdfs:label "dimples, facial" ; IAO:0000142 PMID:2363446 ; - oboInOwl:hasDbXref UMLS:C1852076 ; oboInOwl:hasExactSynonym "cheek dimples", "dimples, facial", - "smiling dimples" . + "smiling dimples" ; + skos:exactMatch UMLS:C1852076 . OMIM:126110 a owl:Class ; rdfs:label "ARNT" ; @@ -21749,8 +22267,6 @@ OMIM:126110 a owl:Class ; PMID:8065341, PMID:8244375, PMID:9079689 ; - oboInOwl:hasDbXref UMLS:C1332116, - UMLS:C1852075 ; oboInOwl:hasExactSynonym "ARNT", "arnt/tel fusion gene", "aryl hydrocarbon receptor nuclear translocator", @@ -21760,7 +22276,10 @@ OMIM:126110 a owl:Class ; "tango" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:405 ; - skos:exactMatch HGNC_symbol:ARNT ; + skos:exactMatch UMLS:C1332116, + UMLS:C1852075, + HGNC:700, + HGNC_symbol:ARNT ; biolink:category biolink:Gene . OMIM:126140 a owl:Class ; @@ -21778,16 +22297,17 @@ OMIM:126141 a owl:Class ; PMID:8499659 ; RO:0002525 CHR:9606chr7q36.2 ; RO:0003303 OMIM:612956 ; - oboInOwl:hasDbXref UMLS:C1414142, - UMLS:C2751829, - UMLS:C4225375 ; oboInOwl:hasExactSynonym "DPP6", "dipeptidyl peptidase 6", "dipeptidyl peptidase iv-related protein", "dppx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1804 ; - skos:exactMatch HGNC_symbol:DPP6 ; + skos:exactMatch UMLS:C1414142, + UMLS:C2751829, + UMLS:C4225375, + HGNC:3010, + HGNC_symbol:DPP6 ; biolink:category biolink:Gene . OMIM:126150 a owl:Class ; @@ -21809,7 +22329,6 @@ OMIM:126150 a owl:Class ; PMID:7590736, PMID:8347598 ; RO:0002525 CHR:9606chr5q31.3 ; - oboInOwl:hasDbXref UMLS:C1539630 ; oboInOwl:hasExactSynonym "HBEGF", "diphtheria toxin receptor", "hegfl", @@ -21817,27 +22336,29 @@ OMIM:126150 a owl:Class ; "heparin-binding egf-like growth factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1839 ; - skos:exactMatch HGNC_symbol:HBEGF ; + skos:exactMatch UMLS:C1539630, + HGNC:3059, + HGNC_symbol:HBEGF ; biolink:category biolink:Gene . OMIM:126180 a owl:Class ; rdfs:label "discrimination, two-point, reduction 1n" ; - oboInOwl:hasDbXref UMLS:C1852074 ; oboInOwl:hasExactSynonym "discrimination, two-point, reduction 1n", - "sensory discrimination" . + "sensory discrimination" ; + skos:exactMatch UMLS:C1852074 . OMIM:126190 a owl:Class ; rdfs:label "disproportionate short stature with ptosis and valvular heart lesions" ; IAO:0000142 PMID:2302822 ; - oboInOwl:hasDbXref UMLS:C1852073 ; - oboInOwl:hasExactSynonym "disproportionate short stature with ptosis and valvular heart lesions" . + oboInOwl:hasExactSynonym "disproportionate short stature with ptosis and valvular heart lesions" ; + skos:exactMatch UMLS:C1852073 . OMIM:126250 a owl:Class ; rdfs:label "distal osteosclerosis" ; IAO:0000142 PMID:7438509 ; - oboInOwl:hasDbXref UMLS:C1852063 ; oboInOwl:hasExactSynonym "distal osteosclerosis", - "osteosclerosis, distal" . + "osteosclerosis, distal" ; + skos:exactMatch UMLS:C1852063 . OMIM:126255 a owl:Class ; rdfs:label "DLX2" ; @@ -21852,13 +22373,14 @@ OMIM:126255 a owl:Class ; PMID:7590232, PMID:7907794, PMID:8812481 ; - oboInOwl:hasDbXref UMLS:C1414076 ; oboInOwl:hasExactSynonym "DLX2", "distal-less homeobox 2", "tes1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1746 ; - skos:exactMatch HGNC_symbol:DLX2 ; + skos:exactMatch UMLS:C1414076, + HGNC:2915, + HGNC_symbol:DLX2 ; biolink:category biolink:Gene . OMIM:126300 a owl:Class ; @@ -21869,26 +22391,26 @@ OMIM:126300 a owl:Class ; PMID:13894397, PMID:1588476, PMID:8350233 ; - oboInOwl:hasDbXref UMLS:C0423848 ; oboInOwl:hasExactSynonym "distichiasis", "eyelashes, two rows of" ; + skos:exactMatch UMLS:C0423848 ; biolink:category biolink:Disease . OMIM:126320 a owl:Class ; rdfs:label "distichiasis with congenital anomalies of the heart and peripheral vasculature" ; IAO:0000142 PMID:3976722 ; - oboInOwl:hasDbXref UMLS:C1852062 ; - oboInOwl:hasExactSynonym "distichiasis with congenital anomalies of the heart and peripheral vasculature" . + oboInOwl:hasExactSynonym "distichiasis with congenital anomalies of the heart and peripheral vasculature" ; + skos:exactMatch UMLS:C1852062 . OMIM:126330 a owl:Class ; rdfs:label "DNCM" ; IAO:0000142 PMID:1061086 ; - oboInOwl:hasDbXref UMLS:C1414117 ; oboInOwl:hasExactSynonym "DNCM", "cmdna", "dna, cytoplasmic-membrane" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1784 ; + skos:exactMatch UMLS:C1414117 ; biolink:category biolink:Gene . OMIM:126335 a owl:Class ; @@ -21906,14 +22428,15 @@ OMIM:126335 a owl:Class ; PMID:7973727, PMID:9413226, PMID:9827804 ; - oboInOwl:hasDbXref UMLS:C1333655 ; oboInOwl:hasExactSynonym "DNA damage-inducible gene gadd45", "DNA damage-inducible transcript 1", "GADD45A", "growth arrest- and DNA damage-inducible gene, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1647 ; - skos:exactMatch HGNC_symbol:GADD45A ; + skos:exactMatch UMLS:C1333655, + HGNC:4095, + HGNC_symbol:GADD45A ; biolink:category biolink:Gene . OMIM:126337 a owl:Class ; @@ -21930,7 +22453,6 @@ OMIM:126337 a owl:Class ; PMID:8510758, PMID:8913727, PMID:9413226 ; - oboInOwl:hasDbXref UMLS:C1413947 ; oboInOwl:hasExactSynonym "DDIT3", "DNA damage-inducible transcript 3", "c/ebp-homologous protein", @@ -21939,7 +22461,9 @@ OMIM:126337 a owl:Class ; "growth arrest- and DNA damage-inducible gene gadd153" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1649 ; - skos:exactMatch HGNC_symbol:DDIT3 ; + skos:exactMatch UMLS:C1413947, + HGNC:2726, + HGNC_symbol:DDIT3 ; biolink:category biolink:Gene . OMIM:126340 a owl:Class ; @@ -21982,14 +22506,15 @@ OMIM:126340 a owl:Class ; PMID:9771713 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:278730 ; - oboInOwl:hasDbXref UMLS:C1333356 ; oboInOwl:hasExactSynonym "DNA repair defect em9 of chinese hamster ovary cells, complementation of", "ERCC2", "excision repair, complementing defective, 1n chinese hamster, 2", "xpd gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2068 ; - skos:exactMatch HGNC_symbol:ERCC2 ; + skos:exactMatch UMLS:C1333356, + HGNC:3434, + HGNC_symbol:ERCC2 ; biolink:category biolink:Gene . OMIM:126350 a owl:Class ; @@ -22003,23 +22528,24 @@ OMIM:126350 a owl:Class ; PMID:6595199, PMID:9446563, PMID:9535749 ; - oboInOwl:hasDbXref UMLS:C1414111 ; oboInOwl:hasExactSynonym "DNASE2", "deoxyribonuclease ii, lysosomal", "dnase ii, lysosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1777 ; - skos:exactMatch HGNC_symbol:DNASE2 ; + skos:exactMatch UMLS:C1414111, + HGNC:2960, + HGNC_symbol:DNASE2 ; biolink:category biolink:Gene . OMIM:126370 a owl:Class ; rdfs:label "dna, satellite, 3" ; IAO:0000142 PMID:6161756, PMID:6163355 ; - oboInOwl:hasDbXref UMLS:C1852044 ; oboInOwl:hasExactSynonym "D1Z1", "dna, satellite, 3", - "hs3" . + "hs3" ; + skos:exactMatch UMLS:C1852044 . OMIM:126375 a owl:Class ; rdfs:label "DNMT1" ; @@ -22093,7 +22619,6 @@ OMIM:126375 a owl:Class ; PMID:9449671 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:614116 ; - oboInOwl:hasDbXref UMLS:C1414121 ; oboInOwl:hasExactSynonym "DNA cytosine-5-methyltransferase", "DNA methyltransferase", "DNA methyltransferase 1", @@ -22101,7 +22626,9 @@ OMIM:126375 a owl:Class ; "cxxc finger protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1786 ; - skos:exactMatch HGNC_symbol:DNMT1 ; + skos:exactMatch UMLS:C1414121, + HGNC:2976, + HGNC_symbol:DNMT1 ; biolink:category biolink:Gene . OMIM:126380 a owl:Class ; @@ -22137,22 +22664,23 @@ OMIM:126380 a owl:Class ; PMID:9579555 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:610758 ; - oboInOwl:hasDbXref UMLS:C1333355 ; oboInOwl:hasExactSynonym "DNA repair defect uv-20 of chinese hamster ovary cells, complementation of", "ERCC1", "excision repair, complementing defective, 1n chinese hamster, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2067 ; - skos:exactMatch HGNC_symbol:ERCC1 ; + skos:exactMatch UMLS:C1333355, + HGNC:3433, + HGNC_symbol:ERCC1 ; biolink:category biolink:Gene . OMIM:126390 a owl:Class ; rdfs:label "dna, low-repetitive sequences of" ; IAO:0000142 PMID:3976654, PMID:6961418 ; - oboInOwl:hasDbXref UMLS:C1852041 ; oboInOwl:hasExactSynonym "dna, low-repetitive sequences of", - "repetitive sequence DNA" . + "repetitive sequence DNA" ; + skos:exactMatch UMLS:C1852041 . OMIM:126391 a owl:Class ; rdfs:label "LIG1" ; @@ -22173,13 +22701,14 @@ OMIM:126391 a owl:Class ; PMID:8696349 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:619774 ; - oboInOwl:hasDbXref UMLS:C1416851 ; oboInOwl:hasExactSynonym "DNA ligase 1", "LIG1", "ligase i, dna, atp-dependent" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3978 ; - skos:exactMatch HGNC_symbol:LIG1 ; + skos:exactMatch UMLS:C1416851, + HGNC:6598, + HGNC_symbol:LIG1 ; biolink:category biolink:Gene . OMIM:126410 a owl:Class ; @@ -22188,8 +22717,8 @@ OMIM:126410 a owl:Class ; PMID:3016709, PMID:3469648, PMID:3785225 ; - oboInOwl:hasDbXref UMLS:C1852038 ; - oboInOwl:hasExactSynonym "dna, satellite, alpha iia" . + oboInOwl:hasExactSynonym "dna, satellite, alpha iia" ; + skos:exactMatch UMLS:C1852038 . OMIM:126420 a owl:Class ; rdfs:label "TOP1" ; @@ -22209,14 +22738,15 @@ OMIM:126420 a owl:Class ; PMID:2848244, PMID:8111124 ; RO:0002525 CHR:9606chr20q12 ; - oboInOwl:hasDbXref UMLS:C1336656, - UMLS:C1852035 ; oboInOwl:hasExactSynonym "TOP1", "top1/nup98 fusion gene", "topoisomerase, dna, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7150 ; - skos:exactMatch HGNC_symbol:TOP1 ; + skos:exactMatch UMLS:C1336656, + UMLS:C1852035, + HGNC:11986, + HGNC_symbol:TOP1 ; biolink:category biolink:Gene . OMIM:126430 a owl:Class ; @@ -22238,13 +22768,14 @@ OMIM:126430 a owl:Class ; PMID:8389625, PMID:9795238 ; RO:0002525 CHR:9606chr17q21.2 ; - oboInOwl:hasDbXref UMLS:C1336657 ; oboInOwl:hasExactSynonym "DNA topoisomerase 2", "TOP2A", "topoisomerase, dna, ii, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7153 ; - skos:exactMatch HGNC_symbol:TOP2A ; + skos:exactMatch UMLS:C1336657, + HGNC:11989, + HGNC_symbol:TOP2A ; biolink:category biolink:Gene . OMIM:126431 a owl:Class ; @@ -22261,12 +22792,13 @@ OMIM:126431 a owl:Class ; PMID:9795238 ; RO:0002525 CHR:9606chr3p24.2 ; RO:0003303 OMIM:609296 ; - oboInOwl:hasDbXref UMLS:C1336658 ; oboInOwl:hasExactSynonym "TOP2B", "topoisomerase, dna, ii, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7155 ; - skos:exactMatch HGNC_symbol:TOP2B ; + skos:exactMatch UMLS:C1336658, + HGNC:11990, + HGNC_symbol:TOP2B ; biolink:category biolink:Gene . OMIM:126440 a owl:Class ; @@ -22297,13 +22829,14 @@ OMIM:126449 a owl:Class ; PMID:8636408, PMID:9700190, PMID:9920093 ; - oboInOwl:hasDbXref UMLS:C1333250 ; oboInOwl:hasExactSynonym "DRD1", "dopamine receptor d1", "dopamine receptor d1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1812 ; - skos:exactMatch HGNC_symbol:DRD1 ; + skos:exactMatch UMLS:C1333250, + HGNC:3020, + HGNC_symbol:DRD1 ; biolink:category biolink:Gene . OMIM:126450 a owl:Class ; @@ -22360,13 +22893,14 @@ OMIM:126450 a owl:Class ; PMID:9650634, PMID:9672901, PMID:9672902 ; - oboInOwl:hasDbXref UMLS:C1333253 ; oboInOwl:hasExactSynonym "DRD2", "d2r", "dopamine receptor d2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1813 ; - skos:exactMatch HGNC_symbol:DRD2 ; + skos:exactMatch UMLS:C1333253, + HGNC:3023, + HGNC_symbol:DRD2 ; biolink:category biolink:Gene . OMIM:126451 a owl:Class ; @@ -22393,12 +22927,13 @@ OMIM:126451 a owl:Class ; PMID:9691085 ; RO:0002525 CHR:9606chr3q13.31 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1414148 ; oboInOwl:hasExactSynonym "DRD3", "dopamine receptor d3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1814 ; - skos:exactMatch HGNC_symbol:DRD3 ; + skos:exactMatch UMLS:C1414148, + HGNC:3024, + HGNC_symbol:DRD3 ; biolink:category biolink:Gene . OMIM:126452 a owl:Class ; @@ -22459,13 +22994,14 @@ OMIM:126452 a owl:Class ; PMID:9843378 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:143465 ; - oboInOwl:hasDbXref UMLS:C1333254 ; oboInOwl:hasExactSynonym "DRD4", "d4dr", "dopamine receptor d4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1815 ; - skos:exactMatch HGNC_symbol:DRD4 ; + skos:exactMatch UMLS:C1333254, + HGNC:3025, + HGNC_symbol:DRD4 ; biolink:category biolink:Gene . OMIM:126455 a owl:Class ; @@ -22504,22 +23040,23 @@ OMIM:126455 a owl:Class ; PMID:9925041 ; RO:0002525 CHR:9606chr5p15.33 ; RO:0003303 OMIM:188890 ; - oboInOwl:hasDbXref UMLS:C1420213, - UMLS:C4016025, - UMLS:C4747621 ; oboInOwl:hasExactSynonym "SLC6A3", "dat1", "dopamine transporter", "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6531 ; - skos:exactMatch HGNC_symbol:SLC6A3 ; + skos:exactMatch UMLS:C1420213, + UMLS:C4016025, + UMLS:C4747621, + HGNC:11049, + HGNC_symbol:SLC6A3 ; biolink:category biolink:Gene . OMIM:126500 a owl:Class ; rdfs:label "double nail for fifth toe" ; - oboInOwl:hasDbXref UMLS:C1852023 ; - oboInOwl:hasExactSynonym "double nail for fifth toe" . + oboInOwl:hasExactSynonym "double nail for fifth toe" ; + skos:exactMatch UMLS:C1852023 . OMIM:126650 a owl:Class ; rdfs:label "SLC26A3" ; @@ -22537,14 +23074,15 @@ OMIM:126650 a owl:Class ; PMID:9729124 ; RO:0002525 CHR:9606chr7q22.3-q31.1 ; RO:0003303 OMIM:214700 ; - oboInOwl:hasDbXref UMLS:C0267662, - UMLS:C1335836 ; oboInOwl:hasExactSynonym "SLC26A3", "downregulated 1n adenoma", "solute carrier family 26, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1811 ; - skos:exactMatch HGNC_symbol:SLC26A3 ; + skos:exactMatch UMLS:C0267662, + UMLS:C1335836, + HGNC:3018, + HGNC_symbol:SLC26A3 ; biolink:category biolink:Gene . OMIM:126660 a owl:Class ; @@ -22558,12 +23096,13 @@ OMIM:126660 a owl:Class ; PMID:1611026, PMID:8216329, PMID:8838578 ; - oboInOwl:hasDbXref UMLS:C1413922 ; oboInOwl:hasExactSynonym "DBN1", "drebrin e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1627 ; - skos:exactMatch HGNC_symbol:DBN1 ; + skos:exactMatch UMLS:C1413922, + HGNC:2695, + HGNC_symbol:DBN1 ; biolink:category biolink:Gene . OMIM:126700 a owl:Class ; @@ -22572,12 +23111,12 @@ OMIM:126700 a owl:Class ; PMID:12419853, PMID:18252232, PMID:5448127 ; - oboInOwl:hasDbXref UMLS:C0730295, - ORPHA:75376 ; oboInOwl:hasExactSynonym "basal laminar drusen", "drusen of bruch membrane", "drusen, cuticular", "drusen, early adult-onset, grouped" ; + skos:exactMatch UMLS:C0730295, + ORPHA:75376 ; biolink:category biolink:Disease . OMIM:126830 a owl:Class ; @@ -22587,8 +23126,8 @@ OMIM:126830 a owl:Class ; OMIM:126840 a owl:Class ; rdfs:label "duodenal ulcer due to antral g-cell hyperfunction" ; IAO:0000142 PMID:7283292 ; - oboInOwl:hasDbXref UMLS:C1852009 ; - oboInOwl:hasExactSynonym "duodenal ulcer due to antral g-cell hyperfunction" . + oboInOwl:hasExactSynonym "duodenal ulcer due to antral g-cell hyperfunction" ; + skos:exactMatch UMLS:C1852009 . OMIM:126850 a owl:Class ; rdfs:label "duodenal ulcer, hyperpepsinogenemic 1" ; @@ -22596,23 +23135,23 @@ OMIM:126850 a owl:Class ; PMID:7081219, PMID:758579, PMID:8018146 ; - oboInOwl:hasDbXref UMLS:C1852008 ; oboInOwl:hasExactSynonym "duodenal ulcer, hyperpepsinogenemic 1" ; + skos:exactMatch UMLS:C1852008 ; biolink:category biolink:Disease . OMIM:126950 a owl:Class ; rdfs:label "dwarfism with tall vertebrae" ; IAO:0000142 PMID:4641833 ; - oboInOwl:hasDbXref UMLS:C1851996 ; - oboInOwl:hasExactSynonym "dwarfism with tall vertebrae" . + oboInOwl:hasExactSynonym "dwarfism with tall vertebrae" ; + skos:exactMatch UMLS:C1851996 . OMIM:127200 a owl:Class ; rdfs:label "dwarfism with stiff joints and ocular abnormalities" ; IAO:0000142 PMID:14272366, PMID:2732993 ; - oboInOwl:hasDbXref UMLS:C0265349 ; oboInOwl:hasExactSynonym "dwarfism with stiff joints and ocular abnormalities", - "moore-federman syndrome" . + "moore-federman syndrome" ; + skos:exactMatch UMLS:C0265349 . OMIM:127300 a owl:Class ; rdfs:label "leri-weill dyschondrosteosis" ; @@ -22657,18 +23196,18 @@ OMIM:127300 a owl:Class ; PMID:9590292, PMID:9590293, PMID:9609995 ; - oboInOwl:hasDbXref UMLS:C0152441, - UMLS:C0265309 ; oboInOwl:hasExactSynonym "LWD", "dyschondrosteosis", "leri-weill dyschondrosteosis", "madelung deformity" ; + skos:exactMatch UMLS:C0152441, + UMLS:C0265309 ; biolink:category biolink:Disease . OMIM:127350 a owl:Class ; rdfs:label "dyschondrosteosis and nephritis" ; - oboInOwl:hasDbXref UMLS:C1851986 ; - oboInOwl:hasExactSynonym "dyschondrosteosis and nephritis" . + oboInOwl:hasExactSynonym "dyschondrosteosis and nephritis" ; + skos:exactMatch UMLS:C1851986 . OMIM:127550 a owl:Class ; rdfs:label "dyskeratosis congenita, autosomal dominant 1" ; @@ -22687,11 +23226,11 @@ OMIM:127550 a owl:Class ; PMID:7096665, PMID:8958340, PMID:9489792 ; - oboInOwl:hasDbXref UMLS:C4551974 ; oboInOwl:hasExactSynonym "DKCA1", "dyskeratosis congenita, autosomal dominant 1", "dyskeratosis congenita, scoggins iia" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C4551974 ; biolink:category biolink:Disease . OMIM:127800 a owl:Class ; @@ -22701,17 +23240,17 @@ OMIM:127800 a owl:Class ; PMID:15580741, PMID:4881354, PMID:7262103 ; - oboInOwl:hasDbXref UMLS:C0432282 ; oboInOwl:hasExactSynonym "dysplasia epiphysealis hemimelica", - "trevor disease" . + "trevor disease" ; + skos:exactMatch UMLS:C0432282 . OMIM:127820 a owl:Class ; rdfs:label "dysplasia epiphysealis hemimelica with chondromas and osteochondromas" ; IAO:0000142 PMID:4433372, PMID:8411062 ; - oboInOwl:hasDbXref UMLS:C1851956 ; oboInOwl:hasExactSynonym "dysplasia epiphysealis hemimelica with chondromas and osteochondromas", - "osteochondromatosis, dominant carpotarsal" . + "osteochondromatosis, dominant carpotarsal" ; + skos:exactMatch UMLS:C1851956 . OMIM:128000 a owl:Class ; rdfs:label "dystelephalangy" ; @@ -22719,9 +23258,9 @@ OMIM:128000 a owl:Class ; PMID:14258285, PMID:4646550, PMID:627580 ; - oboInOwl:hasDbXref UMLS:C1851955 ; oboInOwl:hasExactSynonym "dystelephalangy", "kirner deformity" ; + skos:exactMatch UMLS:C1851955 ; biolink:category biolink:Disease . OMIM:128100 a owl:Class ; @@ -22786,13 +23325,13 @@ OMIM:128100 a owl:Class ; PMID:9288096, PMID:941771, PMID:941776 ; - oboInOwl:hasDbXref UMLS:C1851945, - UMLS:C3888090 ; oboInOwl:hasExactSynonym "DYT1", "dystonia 1, torsion, autosomal dominant", "dystonia musculorum deformans 1", "early-onset torsion dystonia" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1851945, + UMLS:C3888090 ; biolink:category biolink:Disease . OMIM:128240 a owl:Class ; @@ -22815,7 +23354,6 @@ OMIM:128240 a owl:Class ; PMID:8977119, PMID:9288751, PMID:9288752 ; - oboInOwl:hasDbXref UMLS:C1421412 ; oboInOwl:hasExactSynonym "UTRN", "drp", "dystrophin-like protein", @@ -22823,7 +23361,9 @@ OMIM:128240 a owl:Class ; "utrophin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7402 ; - skos:exactMatch HGNC_symbol:UTRN ; + skos:exactMatch UMLS:C1421412, + HGNC:12635, + HGNC_symbol:UTRN ; biolink:category biolink:Gene . OMIM:128260 a owl:Class ; @@ -22836,48 +23376,49 @@ OMIM:128260 a owl:Class ; PMID:9621144 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:615059 ; - oboInOwl:hasDbXref UMLS:C1420292 ; oboInOwl:hasExactSynonym "SNRPE", "e protein of small nuclear ribonucleoprotein complexes", "small nuclear ribonucleoprotein polypeptide e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6635 ; - skos:exactMatch HGNC_symbol:SNRPE ; + skos:exactMatch UMLS:C1420292, + HGNC:11161, + HGNC_symbol:SNRPE ; biolink:category biolink:Gene . OMIM:128290 a owl:Class ; rdfs:label "ear antitragus, tag at base of" ; IAO:0000142 PMID:6958333 ; - oboInOwl:hasDbXref UMLS:C1851905 ; - oboInOwl:hasExactSynonym "ear antitragus, tag at base of" . + oboInOwl:hasExactSynonym "ear antitragus, tag at base of" ; + skos:exactMatch UMLS:C1851905 . OMIM:128300 a owl:Class ; rdfs:label "ear exostoses" ; - oboInOwl:hasDbXref UMLS:C0155411 ; oboInOwl:hasExactSynonym "ear exostoses", - "exostoses of external auditory canal" . + "exostoses of external auditory canal" ; + skos:exactMatch UMLS:C0155411 . OMIM:128400 a owl:Class ; rdfs:label "ear flare" ; IAO:0000142 PMID:20982098 ; - oboInOwl:hasDbXref UMLS:C1851902 ; - oboInOwl:hasExactSynonym "ear flare" . + oboInOwl:hasExactSynonym "ear flare" ; + skos:exactMatch UMLS:C1851902 . OMIM:128500 a owl:Class ; rdfs:label "ear folding" ; IAO:0000142 PMID:5495681, PMID:759414 ; - oboInOwl:hasDbXref UMLS:C1851901 ; - oboInOwl:hasExactSynonym "ear folding" . + oboInOwl:hasExactSynonym "ear folding" ; + skos:exactMatch UMLS:C1851901 . OMIM:128600 a owl:Class ; rdfs:label "ear malformation" ; IAO:0000142 PMID:14321550, PMID:5644613, PMID:5653870 ; - oboInOwl:hasDbXref UMLS:C0266589 ; oboInOwl:hasExactSynonym "cup ear", "ear malformation" ; + skos:exactMatch UMLS:C0266589 ; biolink:category biolink:Disease . OMIM:128710 a owl:Class ; @@ -22887,27 +23428,27 @@ OMIM:128710 a owl:Class ; PMID:17975802, PMID:1897573, PMID:19283852 ; - oboInOwl:hasDbXref UMLS:C1851900, - UMLS:C3276675 ; oboInOwl:hasExactSynonym "ear pits, posterior helical", "earlobe indentations, posterior", - "posterior helical ear pits" . + "posterior helical ear pits" ; + skos:exactMatch UMLS:C1851900, + UMLS:C3276675 . OMIM:128800 a owl:Class ; rdfs:label "ear without helix" ; IAO:0000142 PMID:17764079, PMID:18266241, PMID:18412110 ; - oboInOwl:hasDbXref UMLS:C1851899 ; - oboInOwl:hasExactSynonym "ear without helix" . + oboInOwl:hasExactSynonym "ear without helix" ; + skos:exactMatch UMLS:C1851899 . OMIM:128900 a owl:Class ; rdfs:label "earlobe attachment, attached 5s unattached" ; IAO:0000142 PMID:14277139, PMID:4760584, PMID:5953713 ; - oboInOwl:hasDbXref UMLS:C1851898 ; - oboInOwl:hasExactSynonym "earlobe attachment, attached 5s unattached" . + oboInOwl:hasExactSynonym "earlobe attachment, attached 5s unattached" ; + skos:exactMatch UMLS:C1851898 . OMIM:128950 a owl:Class ; rdfs:label "earlobe crease" ; @@ -22915,16 +23456,16 @@ OMIM:128950 a owl:Class ; PMID:4718047, PMID:4812503, PMID:6827013 ; - oboInOwl:hasDbXref UMLS:C1851897 ; - oboInOwl:hasExactSynonym "earlobe crease" . + oboInOwl:hasExactSynonym "earlobe crease" ; + skos:exactMatch UMLS:C1851897 . OMIM:128980 a owl:Class ; rdfs:label "earlobes, thickened, with conductive deafness from incudostapedial abnormalities" ; IAO:0000142 PMID:5428055, PMID:5657116, PMID:6476090 ; - oboInOwl:hasDbXref UMLS:C1851896 ; oboInOwl:hasExactSynonym "earlobes, thickened, with conductive deafness from incudostapedial abnormalities" ; + skos:exactMatch UMLS:C1851896 ; biolink:category biolink:Disease . OMIM:128990 a owl:Class ; @@ -22953,7 +23494,6 @@ OMIM:128990 a owl:Class ; PMID:9212230, PMID:9476963, PMID:9933644 ; - oboInOwl:hasDbXref UMLS:C1414314 ; oboInOwl:hasExactSynonym "EGR1", "early growth response 1", "krox24", @@ -22961,28 +23501,31 @@ OMIM:128990 a owl:Class ; "zif268" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1958 ; - skos:exactMatch HGNC_symbol:EGR1 ; + skos:exactMatch UMLS:C1414314, + HGNC:3238, + HGNC_symbol:EGR1 ; biolink:category biolink:Gene . OMIM:128992 a owl:Class ; rdfs:label "EGR4" ; IAO:0000142 PMID:1584812, PMID:8188273 ; - oboInOwl:hasDbXref UMLS:C1414317 ; oboInOwl:hasExactSynonym "EGR4", "early growth response 4", "nerve growth factor-induced clone c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1961 ; - skos:exactMatch HGNC_symbol:EGR4 ; + skos:exactMatch UMLS:C1414317, + HGNC:3241, + HGNC_symbol:EGR4 ; biolink:category biolink:Gene . OMIM:129000 a owl:Class ; rdfs:label "earring holes, natural" ; IAO:0000142 PMID:6958333 ; - oboInOwl:hasDbXref UMLS:C1851895 ; oboInOwl:hasExactSynonym "earlobe sinuses", - "earring holes, natural" . + "earring holes, natural" ; + skos:exactMatch UMLS:C1851895 . OMIM:129010 a owl:Class ; rdfs:label "EGR2" ; @@ -23006,19 +23549,20 @@ OMIM:129010 a owl:Class ; PMID:9537424 ; RO:0002525 CHR:9606chr10q21.3 ; RO:0003303 OMIM:605253 ; - oboInOwl:hasDbXref UMLS:C1414315 ; oboInOwl:hasExactSynonym "EGR2", "early growth response 2", "krox20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1959 ; - skos:exactMatch HGNC_symbol:EGR2 ; + skos:exactMatch UMLS:C1414315, + HGNC:3239, + HGNC_symbol:EGR2 ; biolink:category biolink:Gene . OMIM:129100 a owl:Class ; rdfs:label "ears, ability to move" ; - oboInOwl:hasDbXref UMLS:C1851889 ; - oboInOwl:hasExactSynonym "ears, ability to move" . + oboInOwl:hasExactSynonym "ears, ability to move" ; + skos:exactMatch UMLS:C1851889 . OMIM:129190 a owl:Class ; rdfs:label "NT5E" ; @@ -23031,7 +23575,6 @@ OMIM:129190 a owl:Class ; PMID:32999463 ; RO:0002525 CHR:9606chr6q14.3 ; RO:0003303 OMIM:211800 ; - oboInOwl:hasDbXref UMLS:C1417861 ; oboInOwl:hasExactSynonym "NT5E", "cd73", "e5nt", @@ -23039,7 +23582,9 @@ OMIM:129190 a owl:Class ; "nucleotidase, ecto-5-prime" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4907 ; - skos:exactMatch HGNC_symbol:NT5E ; + skos:exactMatch UMLS:C1417861, + HGNC:8021, + HGNC_symbol:NT5E ; biolink:category biolink:Gene . OMIM:129200 a owl:Class ; @@ -23057,11 +23602,11 @@ OMIM:129200 a owl:Class ; PMID:6638074, PMID:7829732, PMID:8340514 ; - oboInOwl:hasDbXref UMLS:C0406707, - ORPHA:1658 ; oboInOwl:hasExactSynonym "adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities", "basan syndrome", "ectodermal dysplasia, absent dermatoglyphic pattern, changes 1n nails, and simian crease" ; + skos:exactMatch UMLS:C0406707, + ORPHA:1658 ; biolink:category biolink:Disease . OMIM:129400 a owl:Class ; @@ -23085,14 +23630,14 @@ OMIM:129400 a owl:Class ; PMID:7116674, PMID:7305420, PMID:8737656 ; - oboInOwl:hasDbXref UMLS:C1785148, + oboInOwl:hasExactSynonym "RHS", + "ectodermal dysplasia, anhidrotic, with cleft lip/palate", + "rapp-hodgkin syndrome" ; + skos:exactMatch UMLS:C1785148, ORPHA:141291, ORPHA:199302, ORPHA:199306, ORPHA:3022 ; - oboInOwl:hasExactSynonym "RHS", - "ectodermal dysplasia, anhidrotic, with cleft lip/palate", - "rapp-hodgkin syndrome" ; biolink:category biolink:Disease . OMIM:129490 a owl:Class ; @@ -23103,31 +23648,31 @@ OMIM:129490 a owl:Class ; PMID:3429615, PMID:9375732, PMID:9545409 ; - oboInOwl:hasDbXref UMLS:C3888065 ; oboInOwl:hasExactSynonym "ECTD10A", "ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant", "ectodermal dysplasia, hypohidrotic, autosomal dominant" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C3888065 ; biolink:category biolink:Disease . OMIM:129510 a owl:Class ; rdfs:label "ectodermal dysplasia, trichoodontoonychial iia" ; IAO:0000142 PMID:3740884, PMID:8929951 ; - oboInOwl:hasDbXref UMLS:C1851858 ; - oboInOwl:hasExactSynonym "ectodermal dysplasia, trichoodontoonychial iia" . + oboInOwl:hasExactSynonym "ectodermal dysplasia, trichoodontoonychial iia" ; + skos:exactMatch UMLS:C1851858 . OMIM:129540 a owl:Class ; rdfs:label "ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet" ; IAO:0000142 PMID:2817002 ; - oboInOwl:hasDbXref UMLS:C1851851 ; - oboInOwl:hasExactSynonym "ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet" . + oboInOwl:hasExactSynonym "ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet" ; + skos:exactMatch UMLS:C1851851 . OMIM:129550 a owl:Class ; rdfs:label "ectodermal dysplasia with adrenal cyst" ; IAO:0000142 PMID:6837633 ; - oboInOwl:hasDbXref UMLS:C1851850 ; - oboInOwl:hasExactSynonym "ectodermal dysplasia with adrenal cyst" . + oboInOwl:hasExactSynonym "ectodermal dysplasia with adrenal cyst" ; + skos:exactMatch UMLS:C1851850 . OMIM:129600 a owl:Class ; rdfs:label "ectopia lentis 1, isolated, autosomal dominant" ; @@ -23150,43 +23695,43 @@ OMIM:129600 a owl:Class ; PMID:310371, PMID:5928829, PMID:7802039 ; - oboInOwl:hasDbXref UMLS:C3541518 ; oboInOwl:hasExactSynonym "ECTOL1", "ectopia lentis 1, isolated, autosomal dominant" ; + skos:exactMatch UMLS:C3541518 ; biolink:category biolink:Disease . OMIM:129750 a owl:Class ; rdfs:label "ectopia pupillae" ; IAO:0000142 PMID:9931324 ; - oboInOwl:hasDbXref UMLS:C0271135 ; - oboInOwl:hasExactSynonym "ectopia pupillae" . + oboInOwl:hasExactSynonym "ectopia pupillae" ; + skos:exactMatch UMLS:C0271135 . OMIM:129810 a owl:Class ; rdfs:label "ectrodactyly and ectodermal dysplasia without cleft lip/palate" ; IAO:0000142 PMID:3233778 ; - oboInOwl:hasDbXref UMLS:C1851849 ; oboInOwl:hasExactSynonym "ectrodactyly and ectodermal dysplasia without cleft lip/palate", - "eec syndrome without cleft lip/palate" . + "eec syndrome without cleft lip/palate" ; + skos:exactMatch UMLS:C1851849 . OMIM:129830 a owl:Class ; rdfs:label "ectrodactyly-cleft palate syndrome" ; IAO:0000142 PMID:7389733 ; - oboInOwl:hasDbXref UMLS:C1851848 ; oboInOwl:hasExactSynonym "ecp syndrome", - "ectrodactyly-cleft palate syndrome" . + "ectrodactyly-cleft palate syndrome" ; + skos:exactMatch UMLS:C1851848 . OMIM:129840 a owl:Class ; rdfs:label "edema, familial idiopathic, prepubertal" ; IAO:0000142 PMID:8327648 ; - oboInOwl:hasDbXref UMLS:C1851847 ; - oboInOwl:hasExactSynonym "edema, familial idiopathic, prepubertal" . + oboInOwl:hasExactSynonym "edema, familial idiopathic, prepubertal" ; + skos:exactMatch UMLS:C1851847 . OMIM:129850 a owl:Class ; rdfs:label "edinburgh malformation syndrome" ; IAO:0000142 PMID:2057251, PMID:4360932 ; - oboInOwl:hasDbXref UMLS:C0795933 ; oboInOwl:hasExactSynonym "edinburgh malformation syndrome" ; + skos:exactMatch UMLS:C0795933 ; biolink:category biolink:Disease . OMIM:129905 a owl:Class ; @@ -23194,9 +23739,9 @@ OMIM:129905 a owl:Class ; IAO:0000142 PMID:1783403, PMID:3729927, PMID:7115289 ; - oboInOwl:hasDbXref UMLS:C0058967 ; oboInOwl:hasExactSynonym "egasyn", - "esterase 22" . + "esterase 22" ; + skos:exactMatch UMLS:C0058967 . OMIM:130000 a owl:Class ; rdfs:label "ehlers-danlos syndrome, classic type, 1" ; @@ -23246,7 +23791,6 @@ OMIM:130000 a owl:Class ; PMID:8923000, PMID:9042913, PMID:9557891 ; - oboInOwl:hasDbXref UMLS:C4552122 ; oboInOwl:hasExactSynonym "EDSCL1", "eds i, formerly", "ehlers-danlos syndrome, iia i, formerly", @@ -23254,6 +23798,7 @@ OMIM:130000 a owl:Class ; "ehlers-danlos syndrome, gravis type, formerly", "ehlers-danlos syndrome, severe classic type, formerly" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C4552122 ; biolink:category biolink:Disease . OMIM:130020 a owl:Class ; @@ -23262,13 +23807,13 @@ OMIM:130020 a owl:Class ; PMID:19557868, PMID:20684008, PMID:7833919 ; - oboInOwl:hasDbXref UMLS:C0268337 ; oboInOwl:hasExactSynonym "EDSHMB", "benign hypermobility syndrome", "eds 3", "ehlers-danlos syndrome, iia 3", "ehlers-danlos syndrome, hypermobility iia" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C0268337 ; biolink:category biolink:Disease . OMIM:130060 a owl:Class ; @@ -23283,8 +23828,6 @@ OMIM:130060 a owl:Class ; PMID:6462220, PMID:7042525, PMID:9295084 ; - oboInOwl:hasDbXref UMLS:C4551623, - ORPHA:1899 ; oboInOwl:hasExactSynonym "EDSARTH1", "arthrochalasis multiplex congenita", "eds 7a", @@ -23292,26 +23835,28 @@ OMIM:130060 a owl:Class ; "ehlers-danlos syndrome, iia viia, autosomal dominant", "ehlers-danlos syndrome, arthrochalasia type, 1" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C4551623, + ORPHA:1899 ; biolink:category biolink:Disease . OMIM:130090 a owl:Class ; rdfs:label "ehlers-danlos syndrome, autosomal dominant, iia unspecified" ; IAO:0000142 PMID:7094393 ; - oboInOwl:hasDbXref UMLS:C0220679 ; oboInOwl:hasExactSynonym "eds, unspecified iia", "ehlers-danlos syndrome, autosomal dominant, iia unspecified", - "ehlers-danlos syndrome, friedman-harrod iia" . + "ehlers-danlos syndrome, friedman-harrod iia" ; + skos:exactMatch UMLS:C0220679 . OMIM:130100 a owl:Class ; rdfs:label "elastosis perforans serpiginosa" ; IAO:0000142 PMID:6628803, PMID:6840372, PMID:7679569 ; - oboInOwl:hasDbXref UMLS:C0221271 ; oboInOwl:hasExactSynonym "EPS", "elastoma intrapapillare perforans verruciformis", "elastosis perforans serpiginosa", - "miescher elastoma" . + "miescher elastoma" ; + skos:exactMatch UMLS:C0221271 . OMIM:130120 a owl:Class ; rdfs:label "CELA1" ; @@ -23319,14 +23864,15 @@ OMIM:130120 a owl:Class ; PMID:3648024, PMID:8575772, PMID:9175736 ; - oboInOwl:hasDbXref UMLS:C1414368 ; oboInOwl:hasExactSynonym "CELA1", "chymotrypsin-like elastase family, member 1", "elastase 1", "elastase, pancreatic, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1990 ; - skos:exactMatch HGNC_symbol:CELA1 ; + skos:exactMatch UMLS:C1414368, + HGNC:3308, + HGNC_symbol:CELA1 ; biolink:category biolink:Gene . OMIM:130135 a owl:Class ; @@ -23334,14 +23880,15 @@ OMIM:130135 a owl:Class ; IAO:0000142 PMID:1376927, PMID:7724531, PMID:8530031 ; - oboInOwl:hasDbXref UMLS:C1414370 ; oboInOwl:hasExactSynonym "SERPINB1", "elastase inhibitor, monocyte/neutrophil", "protease inhibitor 2, monocyte/neutrophil derived", "serpin peptidase inhibitor, clade B (ovalbumin), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1992 ; - skos:exactMatch HGNC_symbol:SERPINB1 ; + skos:exactMatch UMLS:C1414370, + HGNC:3311, + HGNC_symbol:SERPINB1 ; biolink:category biolink:Gene . OMIM:130160 a owl:Class ; @@ -23390,14 +23937,15 @@ OMIM:130160 a owl:Class ; PMID:9873040 ; RO:0002525 CHR:9606chr7q11.23 ; RO:0003303 OMIM:185500 ; - oboInOwl:hasDbXref UMLS:C0003499, - UMLS:C1414382, - UMLS:C3276539 ; oboInOwl:hasExactSynonym "ELN", "elastin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2006 ; - skos:exactMatch HGNC_symbol:ELN ; + skos:exactMatch UMLS:C0003499, + UMLS:C1414382, + UMLS:C3276539, + HGNC:3327, + HGNC_symbol:ELN ; biolink:category biolink:Gene . OMIM:130190 a owl:Class ; @@ -23406,28 +23954,28 @@ OMIM:130190 a owl:Class ; PMID:11891318, PMID:3169741, PMID:8644716 ; - oboInOwl:hasDbXref UMLS:C3549684 ; oboInOwl:hasExactSynonym "EEGBQTL", "electroencephalographic pattern, beta frequency, quantitative trait locus" ; + skos:exactMatch UMLS:C3549684 ; biolink:category biolink:Disease . OMIM:130200 a owl:Class ; rdfs:label "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon" ; IAO:0000142 PMID:5895731 ; - oboInOwl:hasDbXref UMLS:C1851757 ; - oboInOwl:hasExactSynonym "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon" . + oboInOwl:hasExactSynonym "electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon" ; + skos:exactMatch UMLS:C1851757 . OMIM:130300 a owl:Class ; rdfs:label "electroencephalographic peculiarity: fronto-precentral beta wave groups" ; IAO:0000142 PMID:5984966 ; - oboInOwl:hasDbXref UMLS:C1851756 ; - oboInOwl:hasExactSynonym "electroencephalographic peculiarity: fronto-precentral beta wave groups" . + oboInOwl:hasExactSynonym "electroencephalographic peculiarity: fronto-precentral beta wave groups" ; + skos:exactMatch UMLS:C1851756 . OMIM:130400 a owl:Class ; rdfs:label "electroencephalographic peculiarity: occipital slow beta waves" ; IAO:0000142 PMID:5984967 ; - oboInOwl:hasDbXref UMLS:C1851755 ; - oboInOwl:hasExactSynonym "electroencephalographic peculiarity: occipital slow beta waves" . + oboInOwl:hasExactSynonym "electroencephalographic peculiarity: occipital slow beta waves" ; + skos:exactMatch UMLS:C1851755 . OMIM:130410 a owl:Class ; rdfs:label "ETFB" ; @@ -23441,12 +23989,13 @@ OMIM:130410 a owl:Class ; PMID:9350306 ; RO:0002525 CHR:9606chr19q13.41 ; RO:0003303 OMIM:231680 ; - oboInOwl:hasDbXref UMLS:C1414472 ; oboInOwl:hasExactSynonym "ETFB", "electron transfer flavoprotein, beta polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2109 ; - skos:exactMatch HGNC_symbol:ETFB ; + skos:exactMatch UMLS:C1414472, + HGNC:3482, + HGNC_symbol:ETFB ; biolink:category biolink:Gene . OMIM:130500 a owl:Class ; @@ -23479,14 +24028,15 @@ OMIM:130500 a owl:Class ; PMID:9927493 ; RO:0002525 CHR:9606chr1p35.3 ; RO:0003303 OMIM:611804 ; - oboInOwl:hasDbXref UMLS:C1414422 ; oboInOwl:hasExactSynonym "EPB41", "el1 gene", "erythrocyte membrane protein band 4.1", "protein 4.1, red blood cell iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2035 ; - skos:exactMatch HGNC_symbol:EPB41 ; + skos:exactMatch UMLS:C1414422, + HGNC:3377, + HGNC_symbol:EPB41 ; biolink:category biolink:Gene . OMIM:130590 a owl:Class ; @@ -23502,7 +24052,6 @@ OMIM:130590 a owl:Class ; PMID:3570288, PMID:8743958, PMID:8812466 ; - oboInOwl:hasDbXref UMLS:C1414270 ; oboInOwl:hasExactSynonym "EEF1A1", "cervical cancer suppressor 3 isoform", "elongation factor 1, alpha", @@ -23510,7 +24059,9 @@ OMIM:130590 a owl:Class ; "eukaryotic translation elongation factor 1, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1915 ; - skos:exactMatch HGNC_symbol:EEF1A1 ; + skos:exactMatch UMLS:C1414270, + HGNC:3189, + HGNC_symbol:EEF1A1 ; biolink:category biolink:Gene . OMIM:130591 a owl:Class ; @@ -23523,7 +24074,6 @@ OMIM:130592 a owl:Class ; PMID:8334168, PMID:8743958, PMID:9514931 ; - oboInOwl:hasDbXref UMLS:C1414292 ; oboInOwl:hasExactSynonym "EEF1D", "eef1b-delta", "elongation factor 1, delta", @@ -23531,7 +24081,9 @@ OMIM:130592 a owl:Class ; "guanine nucleotide exchange protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1936 ; - skos:exactMatch HGNC_symbol:EEF1D ; + skos:exactMatch UMLS:C1414292, + HGNC:3211, + HGNC_symbol:EEF1D ; biolink:category biolink:Gene . OMIM:130593 a owl:Class ; @@ -23540,14 +24092,15 @@ OMIM:130593 a owl:Class ; PMID:1461723, PMID:7703850, PMID:8743958 ; - oboInOwl:hasDbXref UMLS:C1414294 ; oboInOwl:hasExactSynonym "EEF1G", "eef1b-gamma", "elongation factor 1, gamma", "eukaryotic translation elongation factor 1, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1937 ; - skos:exactMatch HGNC_symbol:EEF1G ; + skos:exactMatch UMLS:C1414294, + HGNC:3213, + HGNC_symbol:EEF1G ; biolink:category biolink:Gene . OMIM:130600 a owl:Class ; @@ -23571,10 +24124,10 @@ OMIM:130600 a owl:Class ; PMID:6992078, PMID:7017750, PMID:7229027 ; - oboInOwl:hasDbXref UMLS:C1851741 ; oboInOwl:hasExactSynonym "EL2", "elliptocytosis 2", "elliptocytosis, rhesus-unlinked iia" ; + skos:exactMatch UMLS:C1851741 ; biolink:category biolink:Disease . OMIM:130610 a owl:Class ; @@ -23587,14 +24140,15 @@ OMIM:130610 a owl:Class ; PMID:6427766 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:609306 ; - oboInOwl:hasDbXref UMLS:C1414295 ; oboInOwl:hasExactSynonym "EEF2", "elongation factor 2", "eukaryotic translation elongation factor 2", "polypeptidyl-trna translocase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1938 ; - skos:exactMatch HGNC_symbol:EEF2 ; + skos:exactMatch UMLS:C1414295, + HGNC:3214, + HGNC_symbol:EEF2 ; biolink:category biolink:Gene . OMIM:130620 a owl:Class ; @@ -23611,13 +24165,14 @@ OMIM:130620 a owl:Class ; PMID:9732752 ; RO:0002525 CHR:9606chr5q33.1 ; RO:0003303 OMIM:153550 ; - oboInOwl:hasDbXref UMLS:C1419703 ; oboInOwl:hasExactSynonym "RPS14", "emetine resistance gene", "ribosomal protein s14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6208 ; - skos:exactMatch HGNC_symbol:RPS14 ; + skos:exactMatch UMLS:C1419703, + HGNC:10387, + HGNC_symbol:RPS14 ; biolink:category biolink:Gene . OMIM:130660 a owl:Class ; @@ -23629,13 +24184,14 @@ OMIM:130660 a owl:Class ; PMID:3182862, PMID:6355109, PMID:8458869 ; - oboInOwl:hasDbXref UMLS:C1366506 ; oboInOwl:hasExactSynonym "EMILIN1", "elastin microfibril interface-located protein", "elastin microfibril interfacer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11117 ; - skos:exactMatch HGNC_symbol:EMILIN1 ; + skos:exactMatch UMLS:C1366506, + HGNC:19880, + HGNC_symbol:EMILIN1 ; biolink:category biolink:Gene . OMIM:130700 a owl:Class ; @@ -23643,22 +24199,22 @@ OMIM:130700 a owl:Class ; IAO:0000142 PMID:366412, PMID:5844558, PMID:5844559 ; - oboInOwl:hasDbXref UMLS:C1851718 ; - oboInOwl:hasExactSynonym "emphysema, hereditary pulmonary" . + oboInOwl:hasExactSynonym "emphysema, hereditary pulmonary" ; + skos:exactMatch UMLS:C1851718 . OMIM:130710 a owl:Class ; rdfs:label "emphysema, congenital lobar" ; IAO:0000142 PMID:7088614 ; - oboInOwl:hasDbXref UMLS:C0265797 ; oboInOwl:hasExactSynonym "CLE", - "emphysema, congenital lobar" . + "emphysema, congenital lobar" ; + skos:exactMatch UMLS:C0265797 . OMIM:130950 a owl:Class ; rdfs:label "encephalopathy, recurrent, of childhood" ; IAO:0000142 PMID:6859111 ; - oboInOwl:hasDbXref UMLS:C1851708, - ORPHA:2672 ; - oboInOwl:hasExactSynonym "encephalopathy, recurrent, of childhood" . + oboInOwl:hasExactSynonym "encephalopathy, recurrent, of childhood" ; + skos:exactMatch UMLS:C1851708, + ORPHA:2672 . OMIM:131100 a owl:Class ; rdfs:label "multiple endocrine neoplasia, iia 1" ; @@ -23773,8 +24329,6 @@ OMIM:131100 a owl:Class ; PMID:9832038, PMID:9843042, PMID:9920087 ; - oboInOwl:hasDbXref UMLS:C0025267, - UMLS:C3149237 ; oboInOwl:hasExactSynonym "MEN1", "endocrine adenomatosis, multiple", "mea 1", @@ -23783,6 +24337,8 @@ OMIM:131100 a owl:Class ; "multiple endocrine neoplasia, iia 1", "wermer syndrome" ; rdfs:subClassOf OMIMPS:131100 ; + skos:exactMatch UMLS:C0025267, + UMLS:C3149237 ; biolink:category biolink:Disease . OMIM:131150 a owl:Class ; @@ -23796,10 +24352,10 @@ OMIM:131150 a owl:Class ; PMID:8449504, PMID:8643549, PMID:9533039 ; - oboInOwl:hasDbXref UMLS:C1414447 ; oboInOwl:hasExactSynonym "ERV1", "endogenous retroviral sequence 1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1414447 ; biolink:category biolink:Gene . OMIM:131170 a owl:Class ; @@ -23807,31 +24363,32 @@ OMIM:131170 a owl:Class ; IAO:0000142 PMID:10894926, PMID:2115127, PMID:6495650 ; - oboInOwl:hasDbXref UMLS:C1414448 ; oboInOwl:hasExactSynonym "ERV3", "endogenous retroviral sequence 3", "human provirus-linked kruppel" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2086 ; - skos:exactMatch HGNC_symbol:ERV3-1 ; + skos:exactMatch UMLS:C1414448, + HGNC:3454, + HGNC_symbol:ERV3-1 ; biolink:category biolink:Gene . OMIM:131180 a owl:Class ; rdfs:label "ERPL2" ; IAO:0000142 PMID:3701934 ; - oboInOwl:hasDbXref UMLS:C1414446 ; oboInOwl:hasExactSynonym "ERPL2", "endogenous retroviral pol-like sequence-2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1414446 ; biolink:category biolink:Gene . OMIM:131190 a owl:Class ; rdfs:label "endogenous retroviral pol-like sequence-1" ; IAO:0000142 PMID:2408338 ; - oboInOwl:hasDbXref UMLS:C1414445 ; oboInOwl:hasExactSynonym "ERPL1", "endogenous retroviral pol-like sequence-1", - "oncogene hlm2" . + "oncogene hlm2" ; + skos:exactMatch UMLS:C1414445 . OMIM:131195 a owl:Class ; rdfs:label "ENG" ; @@ -23872,13 +24429,14 @@ OMIM:131195 a owl:Class ; PMID:9845534 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:187300 ; - oboInOwl:hasDbXref UMLS:C1366583 ; oboInOwl:hasExactSynonym "ENG", "cd105", "endoglin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2022 ; - skos:exactMatch HGNC_symbol:ENG ; + skos:exactMatch UMLS:C1366583, + HGNC:3349, + HGNC_symbol:ENG ; biolink:category biolink:Gene . OMIM:131210 a owl:Class ; @@ -23900,7 +24458,6 @@ OMIM:131210 a owl:Class ; PMID:20147318, PMID:2466335, PMID:7533025 ; - oboInOwl:hasDbXref UMLS:C1337114 ; oboInOwl:hasExactSynonym "SELE", "e-selectin", "elam", @@ -23908,7 +24465,9 @@ OMIM:131210 a owl:Class ; "selectin e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6401 ; - skos:exactMatch HGNC_symbol:SELE ; + skos:exactMatch UMLS:C1337114, + HGNC:10718, + HGNC_symbol:SELE ; biolink:category biolink:Gene . OMIM:131220 a owl:Class ; @@ -23929,7 +24488,6 @@ OMIM:131220 a owl:Class ; PMID:3778488, PMID:7852998, PMID:8516290 ; - oboInOwl:hasDbXref UMLS:C1333536 ; oboInOwl:hasExactSynonym "FGF1", "endothelial cell growth factor", "endothelial cell growth factor, alpha", @@ -23939,7 +24497,9 @@ OMIM:131220 a owl:Class ; "heparin-binding growth factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2246 ; - skos:exactMatch HGNC_symbol:FGF1 ; + skos:exactMatch UMLS:C1333536, + HGNC:3665, + HGNC_symbol:FGF1 ; biolink:category biolink:Gene . OMIM:131222 a owl:Class ; @@ -23962,7 +24522,6 @@ OMIM:131222 a owl:Class ; PMID:9924029 ; RO:0002525 CHR:9606chr22q13.33 ; RO:0003303 OMIM:603041 ; - oboInOwl:hasDbXref UMLS:C1333327 ; oboInOwl:hasExactSynonym "TYMP", "endothelial cell growth factor, platelet-derived", "gliostatin", @@ -23971,7 +24530,9 @@ OMIM:131222 a owl:Class ; "tp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1890 ; - skos:exactMatch HGNC_symbol:TYMP ; + skos:exactMatch UMLS:C1333327, + HGNC:3148, + HGNC_symbol:TYMP ; biolink:category biolink:Gene . OMIM:131230 a owl:Class ; @@ -23987,7 +24548,6 @@ OMIM:131230 a owl:Class ; PMID:8824796 ; RO:0002525 CHR:9606chr4q27 ; RO:0003303 OMIM:614391 ; - oboInOwl:hasDbXref UMLS:C1332095 ; oboInOwl:hasExactSynonym "ANXA5", "anchorin cii", "annexin 5", @@ -23999,7 +24559,9 @@ OMIM:131230 a owl:Class ; "vascular anticoagulant-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:308 ; - skos:exactMatch HGNC_symbol:ANXA5 ; + skos:exactMatch UMLS:C1332095, + HGNC:543, + HGNC_symbol:ANXA5 ; biolink:category biolink:Gene . OMIM:131235 a owl:Class ; @@ -24010,14 +24572,15 @@ OMIM:131235 a owl:Class ; PMID:15340063, PMID:2172835, PMID:8392934 ; - oboInOwl:hasDbXref UMLS:C1416622 ; oboInOwl:hasExactSynonym "KDELR1", "erd2, s. cerevisiae, homolog of", "hdel receptor, s. cerevisiae, homolog of", "kdel endoplasmic reticulum protein retention receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10945 ; - skos:exactMatch HGNC_symbol:KDELR1 ; + skos:exactMatch UMLS:C1416622, + HGNC:6304, + HGNC_symbol:KDELR1 ; biolink:category biolink:Gene . OMIM:131240 a owl:Class ; @@ -24064,17 +24627,18 @@ OMIM:131240 a owl:Class ; PMID:9449665, PMID:9649553 ; RO:0002525 CHR:9606chr6p24.1 ; - oboInOwl:hasDbXref UMLS:C1414260, - UMLS:C2748545, - UMLS:C3810332, - UMLS:C5436939 ; oboInOwl:hasExactSynonym "EDN1", "endothelin 1", "et1", "preproendothelin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1906 ; - skos:exactMatch HGNC_symbol:EDN1 ; + skos:exactMatch UMLS:C1414260, + UMLS:C2748545, + UMLS:C3810332, + UMLS:C5436939, + HGNC:3176, + HGNC_symbol:EDN1 ; biolink:category biolink:Gene . OMIM:131241 a owl:Class ; @@ -24084,13 +24648,14 @@ OMIM:131241 a owl:Class ; PMID:2018043, PMID:23389444, PMID:8201007 ; - oboInOwl:hasDbXref UMLS:C1333329 ; oboInOwl:hasExactSynonym "EDN2", "endothelin 2", "et2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1907 ; - skos:exactMatch HGNC_symbol:EDN2 ; + skos:exactMatch UMLS:C1333329, + HGNC:3177, + HGNC_symbol:EDN2 ; biolink:category biolink:Gene . OMIM:131242 a owl:Class ; @@ -24117,13 +24682,14 @@ OMIM:131242 a owl:Class ; PMID:9359047 ; RO:0002525 CHR:9606chr20q13.32 ; RO:0003303 OMIM:613712 ; - oboInOwl:hasDbXref UMLS:C1414261 ; oboInOwl:hasExactSynonym "EDN3", "endothelin 3", "et3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1908 ; - skos:exactMatch HGNC_symbol:EDN3 ; + skos:exactMatch UMLS:C1414261, + HGNC:3178, + HGNC_symbol:EDN3 ; biolink:category biolink:Gene . OMIM:131243 a owl:Class ; @@ -24149,14 +24715,15 @@ OMIM:131243 a owl:Class ; PMID:9649553 ; RO:0002525 CHR:9606chr4q31.22-q31.23 ; RO:0003303 OMIM:157300 ; - oboInOwl:hasDbXref UMLS:C1414262 ; oboInOwl:hasExactSynonym "EDNRA", "endothelin receptor, iia a", "endothelin receptor, et1-specific iia", "etra" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1909 ; - skos:exactMatch HGNC_symbol:EDNRA ; + skos:exactMatch UMLS:C1414262, + HGNC:3179, + HGNC_symbol:EDNRA ; biolink:category biolink:Gene . OMIM:131244 a owl:Class ; @@ -24210,14 +24777,15 @@ OMIM:131244 a owl:Class ; PMID:9760196 ; RO:0002525 CHR:9606chr13q22.3 ; RO:0003303 OMIM:600155 ; - oboInOwl:hasDbXref UMLS:C1414263 ; oboInOwl:hasExactSynonym "EDNRB", "endothelin receptor, iia B", "endothelin receptor, nonselective iia", "etrb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1910 ; - skos:exactMatch HGNC_symbol:EDNRB ; + skos:exactMatch UMLS:C1414263, + HGNC:3180, + HGNC_symbol:EDNRB ; biolink:category biolink:Gene . OMIM:131290 a owl:Class ; @@ -24239,12 +24807,13 @@ OMIM:131290 a owl:Class ; PMID:9323126 ; RO:0002525 CHR:9606chr2q14.2 ; RO:0003303 OMIM:619218 ; - oboInOwl:hasDbXref UMLS:C1414395 ; oboInOwl:hasExactSynonym "EN1", "engrailed 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2019 ; - skos:exactMatch HGNC_symbol:EN1 ; + skos:exactMatch UMLS:C1414395, + HGNC:3342, + HGNC_symbol:EN1 ; biolink:category biolink:Gene . OMIM:131300 a owl:Class ; @@ -24275,13 +24844,13 @@ OMIM:131300 a owl:Class ; PMID:7917133, PMID:8636193, PMID:8751682 ; - oboInOwl:hasDbXref UMLS:C0011989 ; oboInOwl:hasExactSynonym "CAEND", "camurati-engelmann disease", "ced", "diaphyseal dysplasia 1, progressive", "engelmann disease", "progressive diaphyseal dysplasia" ; + skos:exactMatch UMLS:C0011989 ; biolink:category biolink:Disease . OMIM:131310 a owl:Class ; @@ -24298,12 +24867,13 @@ OMIM:131310 a owl:Class ; PMID:2567700, PMID:26220976, PMID:7624797 ; - oboInOwl:hasDbXref UMLS:C1414396 ; oboInOwl:hasExactSynonym "EN2", "engrailed 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2020 ; - skos:exactMatch HGNC_symbol:EN2 ; + skos:exactMatch UMLS:C1414396, + HGNC:3343, + HGNC_symbol:EN2 ; biolink:category biolink:Gene . OMIM:131320 a owl:Class ; @@ -24339,13 +24909,14 @@ OMIM:131320 a owl:Class ; PMID:9949310 ; RO:0002525 CHR:9606chr10p14 ; RO:0003303 OMIM:146255 ; - oboInOwl:hasDbXref UMLS:C1414994 ; oboInOwl:hasExactSynonym "GATA3", "enhancer-binding protein gata3", "gata-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2625 ; - skos:exactMatch HGNC_symbol:GATA3 ; + skos:exactMatch UMLS:C1414994, + HGNC:4172, + HGNC_symbol:GATA3 ; biolink:category biolink:Gene . OMIM:131330 a owl:Class ; @@ -24357,14 +24928,15 @@ OMIM:131330 a owl:Class ; PMID:6761648, PMID:7057924, PMID:8849726 ; - oboInOwl:hasDbXref UMLS:C1418457 ; oboInOwl:hasExactSynonym "PENK", "enkephalin a", "preproenkephalin a", "proenkephalin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5179 ; - skos:exactMatch HGNC_symbol:PENK ; + skos:exactMatch UMLS:C1418457, + HGNC:8831, + HGNC_symbol:PENK ; biolink:category biolink:Gene . OMIM:131340 a owl:Class ; @@ -24383,14 +24955,15 @@ OMIM:131340 a owl:Class ; PMID:6316163 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:610245 ; - oboInOwl:hasDbXref UMLS:C1418447 ; oboInOwl:hasExactSynonym "PDYN", "enkephalin B", "preproenkephalin B", "prodynorphin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5173 ; - skos:exactMatch HGNC_symbol:PDYN ; + skos:exactMatch UMLS:C1418447, + HGNC:8820, + HGNC_symbol:PDYN ; biolink:category biolink:Gene . OMIM:131360 a owl:Class ; @@ -24401,14 +24974,15 @@ OMIM:131360 a owl:Class ; PMID:22895339, PMID:318158, PMID:6953074 ; - oboInOwl:hasDbXref UMLS:C1414404 ; oboInOwl:hasExactSynonym "ENO2", "enolase 2", "enolase, gamma", "enolase, neuron-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2026 ; - skos:exactMatch HGNC_symbol:ENO2 ; + skos:exactMatch UMLS:C1414404, + HGNC:3353, + HGNC_symbol:ENO2 ; biolink:category biolink:Gene . OMIM:131370 a owl:Class ; @@ -24420,14 +24994,15 @@ OMIM:131370 a owl:Class ; PMID:5939 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:612932 ; - oboInOwl:hasDbXref UMLS:C1414405 ; oboInOwl:hasExactSynonym "ENO3", "enolase 3", "enolase, beta", "enolase, muscle-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2027 ; - skos:exactMatch HGNC_symbol:ENO3 ; + skos:exactMatch UMLS:C1414405, + HGNC:3354, + HGNC_symbol:ENO3 ; biolink:category biolink:Gene . OMIM:131390 a owl:Class ; @@ -24445,14 +25020,15 @@ OMIM:131390 a owl:Class ; PMID:3264556, PMID:7557988, PMID:7601446 ; - oboInOwl:hasDbXref UMLS:C1334880 ; oboInOwl:hasExactSynonym "NID1", "entactin", "nidogen", "nidogen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4811 ; - skos:exactMatch HGNC_symbol:NID1 ; + skos:exactMatch UMLS:C1334880, + HGNC:7821, + HGNC_symbol:NID1 ; biolink:category biolink:Gene . OMIM:131398 a owl:Class ; @@ -24460,14 +25036,15 @@ OMIM:131398 a owl:Class ; IAO:0000142 PMID:1577491, PMID:2387583, PMID:2473157 ; - oboInOwl:hasDbXref UMLS:C1419409 ; oboInOwl:hasExactSynonym "RNASE3", "eosinophil cationic protein", "ribonuclease, rnase a family, 3", "rns3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6037 ; - skos:exactMatch HGNC_symbol:RNASE3 ; + skos:exactMatch UMLS:C1419409, + HGNC:10046, + HGNC_symbol:RNASE3 ; biolink:category biolink:Gene . OMIM:131399 a owl:Class ; @@ -24478,30 +25055,31 @@ OMIM:131399 a owl:Class ; PMID:7809065 ; RO:0002525 CHR:9606chr17q22 ; RO:0003303 OMIM:261500 ; - oboInOwl:hasDbXref UMLS:C1414438 ; oboInOwl:hasExactSynonym "EPX", "eosinophil peroxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8288 ; - skos:exactMatch HGNC_symbol:EPX ; + skos:exactMatch UMLS:C1414438, + HGNC:3423, + HGNC_symbol:EPX ; biolink:category biolink:Gene . OMIM:131430 a owl:Class ; rdfs:label "eosinophilopenia" ; IAO:0000142 PMID:6465701 ; - oboInOwl:hasDbXref UMLS:C1851586 ; oboInOwl:hasExactSynonym "eosinophil aplasia", - "eosinophilopenia" . + "eosinophilopenia" ; + skos:exactMatch UMLS:C1851586 . OMIM:131440 a owl:Class ; rdfs:label "myeloproliferative disorder, chronic, with eosinophilia" ; IAO:0000142 PMID:12181402, PMID:3478077, PMID:8168137 ; - oboInOwl:hasDbXref UMLS:C1851585 ; oboInOwl:hasExactSynonym "eosinophils, malignant proliferation of", "mpe", "myeloproliferative disorder, chronic, with eosinophilia" ; + skos:exactMatch UMLS:C1851585 ; biolink:category biolink:Disease . OMIM:131445 a owl:Class ; @@ -24510,18 +25088,18 @@ OMIM:131445 a owl:Class ; OMIM:131450 a owl:Class ; rdfs:label "epiblepharon of lower 51d" ; - oboInOwl:hasDbXref UMLS:C1851583 ; - oboInOwl:hasExactSynonym "epiblepharon of lower 51d" . + oboInOwl:hasExactSynonym "epiblepharon of lower 51d" ; + skos:exactMatch UMLS:C1851583 . OMIM:131460 a owl:Class ; rdfs:label "epiblepharon of upper 51d" ; - oboInOwl:hasDbXref UMLS:C1851582 ; - oboInOwl:hasExactSynonym "epiblepharon of upper 51d" . + oboInOwl:hasExactSynonym "epiblepharon of upper 51d" ; + skos:exactMatch UMLS:C1851582 . OMIM:131500 a owl:Class ; rdfs:label "epicanthus" ; - oboInOwl:hasDbXref UMLS:C0678230 ; oboInOwl:hasExactSynonym "epicanthus" ; + skos:exactMatch UMLS:C0678230 ; biolink:category biolink:Disease . OMIM:131550 a owl:Class ; @@ -24614,11 +25192,6 @@ OMIM:131550 a owl:Class ; PMID:9781061 ; RO:0002525 CHR:9606chr7p11.2 ; RO:0003303 OMIM:211980 ; - oboInOwl:hasDbXref UMLS:C1414313, - UMLS:C1851577, - UMLS:C4015130, - UMLS:C4016032, - UMLS:C4016033 ; oboInOwl:hasExactSynonym "EGFR", "egfr/sept14 fusion gene", "epidermal growth factor receptor", @@ -24629,7 +25202,13 @@ OMIM:131550 a owl:Class ; "v-erb-b avian erythroblastic leukemia viral oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1956 ; - skos:exactMatch HGNC_symbol:EGFR ; + skos:exactMatch UMLS:C1414313, + UMLS:C1851577, + UMLS:C4015130, + UMLS:C4016032, + UMLS:C4016033, + HGNC:3236, + HGNC_symbol:EGFR ; biolink:category biolink:Gene . OMIM:131560 a owl:Class ; @@ -24640,20 +25219,21 @@ OMIM:131560 a owl:Class ; PMID:21187433, PMID:7557989, PMID:9153235 ; - oboInOwl:hasDbXref UMLS:C1414639 ; oboInOwl:hasExactSynonym "FLOT2", "epidermal surface antigen 1", "flotillin 2", "membrane component, chromosome 17, surface marker 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2319 ; - skos:exactMatch HGNC_symbol:FLOT2 ; + skos:exactMatch UMLS:C1414639, + HGNC:3758, + HGNC_symbol:FLOT2 ; biolink:category biolink:Gene . OMIM:131600 a owl:Class ; rdfs:label "epidermoid cysts" ; - oboInOwl:hasDbXref UMLS:C0014511 ; - oboInOwl:hasExactSynonym "epidermoid cysts" . + oboInOwl:hasExactSynonym "epidermoid cysts" ; + skos:exactMatch UMLS:C0014511 . OMIM:131750 a owl:Class ; rdfs:label "epidermolysis bullosa dystrophica, autosomal dominant" ; @@ -24679,9 +25259,6 @@ OMIM:131750 a owl:Class ; PMID:8644729, PMID:9347800, PMID:9892921 ; - oboInOwl:hasDbXref UMLS:C0079136, - UMLS:C0432322, - UMLS:C2675683 ; oboInOwl:hasExactSynonym "DDEB", "albopapuloid dominant dystrophic epidermolysis bullosa", "dystrophic epidermolysis bullosa, autosomal dominant", @@ -24689,6 +25266,9 @@ OMIM:131750 a owl:Class ; "epidermolysis bullosa dystrophica, autosomal dominant", "epidermolysis bullosa dystrophica, cockayne-touraine iia", "epidermolysis bullosa dystrophica, pasini iia" ; + skos:exactMatch UMLS:C0079136, + UMLS:C0432322, + UMLS:C2675683 ; biolink:category biolink:Disease . OMIM:131760 a owl:Class ; @@ -24707,13 +25287,13 @@ OMIM:131760 a owl:Class ; PMID:7084543, PMID:7682695, PMID:8427826 ; - oboInOwl:hasDbXref UMLS:C0079295 ; oboInOwl:hasExactSynonym "EBS1A", "epidermolysis bullosa herpetiformis, dowling-meara iia", "epidermolysis bullosa simplex 1a, dowling-meara iia", "epidermolysis bullosa simplex 1a, generalized severe", "epidermolysis bullosa simplex, dowling-meara iia" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C0079295 ; biolink:category biolink:Disease . OMIM:131800 a owl:Class ; @@ -24731,13 +25311,13 @@ OMIM:131800 a owl:Class ; PMID:7520042, PMID:7537780, PMID:7688477 ; - oboInOwl:hasDbXref UMLS:C0080333 ; oboInOwl:hasExactSynonym "EBS1C", "ebs, acral form", "epidermolysis bullosa of hands and feet", "epidermolysis bullosa simplex 1c, localized", "epidermolysis bullosa simplex 1c, weber-cockayne iia" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C0080333 ; biolink:category biolink:Disease . OMIM:131850 a owl:Class ; @@ -24748,20 +25328,20 @@ OMIM:131850 a owl:Class ; PMID:7738360, PMID:8245264, PMID:8541842 ; - oboInOwl:hasDbXref UMLS:C0432321, - ORPHA:79410 ; oboInOwl:hasExactSynonym "deb, pretibial", "dystrophic epidermolysis bullosa, pretibial", "epidermolysis bullosa dystrophica, pretibial", "epidermolysis bullosa, pretibial" ; + skos:exactMatch UMLS:C0432321, + ORPHA:79410 ; biolink:category biolink:Disease . OMIM:131880 a owl:Class ; rdfs:label "epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase" ; IAO:0000142 PMID:3016106, PMID:6449670 ; - oboInOwl:hasDbXref UMLS:C1851570 ; - oboInOwl:hasExactSynonym "epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase" . + oboInOwl:hasExactSynonym "epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase" ; + skos:exactMatch UMLS:C1851570 . OMIM:131900 a owl:Class ; rdfs:label "epidermolysis bullosa simplex 1b, generalized intermediate" ; @@ -24784,11 +25364,11 @@ OMIM:131900 a owl:Class ; PMID:7534039, PMID:7682883, PMID:7686424 ; - oboInOwl:hasDbXref UMLS:C0079299 ; oboInOwl:hasExactSynonym "EBS1B", "epidermolysis bullosa simplex 1b, generalized intermediate", "epidermolysis bullosa simplex 1b, koebner iia" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C0079299 ; biolink:category biolink:Disease . OMIM:131950 a owl:Class ; @@ -24796,11 +25376,11 @@ OMIM:131950 a owl:Class ; IAO:0000142 PMID:11851880, PMID:4425507, PMID:4760576 ; - oboInOwl:hasDbXref UMLS:C0432317 ; oboInOwl:hasExactSynonym "EBS5A", "epidermolysis bullosa simplex 5a, ogna iia", "epidermolysis bullosa simplex, ogna iia" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C0432317 ; biolink:category biolink:Disease . OMIM:132000 a owl:Class ; @@ -24812,26 +25392,26 @@ OMIM:132000 a owl:Class ; PMID:7778916, PMID:8618021, PMID:94215 ; - oboInOwl:hasDbXref UMLS:C0268371 ; oboInOwl:hasExactSynonym "epidermolysis bullosa dystrophica, bart iia", "epidermolysis bullosa with congenital localized absence of skin and deformity of nails" ; + skos:exactMatch UMLS:C0268371 ; biolink:category biolink:Disease . OMIM:132090 a owl:Class ; rdfs:label "epilepsy, benign occipital" ; IAO:0000142 PMID:3113923, PMID:6802526 ; - oboInOwl:hasDbXref UMLS:C1851549 ; oboInOwl:hasExactSynonym "BOE", - "epilepsy, benign occipital" . + "epilepsy, benign occipital" ; + skos:exactMatch UMLS:C1851549 . OMIM:132300 a owl:Class ; rdfs:label "epilepsy, reading" ; IAO:0000142 PMID:5505674, PMID:6069093, PMID:810738 ; - oboInOwl:hasDbXref UMLS:C0278193 ; - oboInOwl:hasExactSynonym "epilepsy, reading" . + oboInOwl:hasExactSynonym "epilepsy, reading" ; + skos:exactMatch UMLS:C0278193 . OMIM:132350 a owl:Class ; rdfs:label "STX2" ; @@ -24841,7 +25421,6 @@ OMIM:132350 a owl:Class ; PMID:28718531, PMID:29570232, PMID:8938452 ; - oboInOwl:hasDbXref UMLS:C1823140 ; oboInOwl:hasExactSynonym "STX2", "epimorphin", "syntaxin 2", @@ -24850,7 +25429,9 @@ OMIM:132350 a owl:Class ; "syntaxin 2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2054 ; - skos:exactMatch HGNC_symbol:STX2 ; + skos:exactMatch UMLS:C1823140, + HGNC:3403, + HGNC_symbol:STX2 ; biolink:category biolink:Gene . OMIM:132400 a owl:Class ; @@ -24888,31 +25469,31 @@ OMIM:132400 a owl:Class ; PMID:9021009, PMID:9463320, PMID:9887340 ; - oboInOwl:hasDbXref UMLS:C1838280, - UMLS:C1851537, - UMLS:C1851538 ; oboInOwl:hasExactSynonym "EDM1", "epiphyseal dysplasia, fairbank iia", "epiphyseal dysplasia, multiple, 1", "epiphyseal dysplasia, ribbing iia", "multiple epiphyseal dysplasia, comp-related" ; rdfs:subClassOf OMIMPS:132400 ; + skos:exactMatch UMLS:C1838280, + UMLS:C1851537, + UMLS:C1851538 ; biolink:category biolink:Disease . OMIM:132450 a owl:Class ; rdfs:label "epiphyseal dysplasia, multiple, with myopia and conductive deafness" ; IAO:0000142 PMID:699354, PMID:9800905 ; - oboInOwl:hasDbXref UMLS:C1851536, - ORPHA:166011 ; oboInOwl:hasExactSynonym "EDMMD", "epiphyseal dysplasia, multiple, with myopia and conductive deafness" ; + skos:exactMatch UMLS:C1851536, + ORPHA:166011 ; biolink:category biolink:Disease . OMIM:132500 a owl:Class ; rdfs:label "epistaxis, hereditary" ; - oboInOwl:hasDbXref UMLS:C0339819 ; - oboInOwl:hasExactSynonym "epistaxis, hereditary" . + oboInOwl:hasExactSynonym "epistaxis, hereditary" ; + skos:exactMatch UMLS:C0339819 . OMIM:132810 a owl:Class ; rdfs:label "EPHX1" ; @@ -24934,14 +25515,15 @@ OMIM:132810 a owl:Class ; PMID:7892276, PMID:9288046, PMID:9925921 ; - oboInOwl:hasDbXref UMLS:C1134446 ; oboInOwl:hasExactSynonym "EPHX1", "epoxide hydrolase", "epoxide hydrolase 1, microsomal", "epoxide hydrolase, microsomal xenobiotic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2052 ; - skos:exactMatch HGNC_symbol:EPHX1 ; + skos:exactMatch UMLS:C1134446, + HGNC:3401, + HGNC_symbol:EPHX1 ; biolink:category biolink:Gene . OMIM:132811 a owl:Class ; @@ -24963,12 +25545,13 @@ OMIM:132811 a owl:Class ; PMID:8619856 ; RO:0002525 CHR:9606chr8p21.2-p21.1 ; RO:0003303 OMIM:143890 ; - oboInOwl:hasDbXref UMLS:C1414433 ; oboInOwl:hasExactSynonym "EPHX2", "epoxide hydrolase 2, cytosolic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2053 ; - skos:exactMatch HGNC_symbol:EPHX2 ; + skos:exactMatch UMLS:C1414433, + HGNC:3402, + HGNC_symbol:EPHX2 ; biolink:category biolink:Gene . OMIM:132860 a owl:Class ; @@ -24981,14 +25564,15 @@ OMIM:132880 a owl:Class ; PMID:18701084, PMID:2905047, PMID:9226381 ; - oboInOwl:hasDbXref UMLS:C0812264 ; oboInOwl:hasExactSynonym "NR2F6", "erba-related 2", "nuclear receptor subfamily 2, group f, member 6", "v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2063 ; - skos:exactMatch HGNC_symbol:NR2F6 ; + skos:exactMatch UMLS:C0812264, + HGNC:7977, + HGNC_symbol:NR2F6 ; biolink:category biolink:Gene . OMIM:132900 a owl:Class ; @@ -24998,27 +25582,27 @@ OMIM:132900 a owl:Class ; PMID:15998682, PMID:16444274, PMID:17666408 ; - oboInOwl:hasDbXref UMLS:C1851504 ; oboInOwl:hasExactSynonym "AAT4", "aortic aneurysm, familial thoracic 4", "aortic aneurysm/aortic dissection and patent ductus arteriosus", "faa4" ; rdfs:subClassOf OMIMPS:607086 ; + skos:exactMatch UMLS:C1851504 ; biolink:category biolink:Disease . OMIM:132990 a owl:Class ; rdfs:label "erythema nodosum, familial" ; IAO:0000142 PMID:1930335 ; - oboInOwl:hasDbXref UMLS:C1851503 ; - oboInOwl:hasExactSynonym "erythema nodosum, familial" . + oboInOwl:hasExactSynonym "erythema nodosum, familial" ; + skos:exactMatch UMLS:C1851503 . OMIM:133000 a owl:Class ; rdfs:label "erythema palmare hereditarium" ; IAO:0000142 PMID:13382341, PMID:17498447, PMID:20633785 ; - oboInOwl:hasDbXref UMLS:C1851502 ; oboInOwl:hasExactSynonym "erythema palmare hereditarium" ; + skos:exactMatch UMLS:C1851502 ; biolink:category biolink:Disease . OMIM:133090 a owl:Class ; @@ -25032,14 +25616,15 @@ OMIM:133090 a owl:Class ; PMID:8276411, PMID:8500356, PMID:8825639 ; - oboInOwl:hasDbXref UMLS:C1414428 ; oboInOwl:hasExactSynonym "STOM", "erythrocyte band 7 integral membrane protein", "erythrocyte surface protein band 7.2", "stomatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2040 ; - skos:exactMatch HGNC_symbol:STOM ; + skos:exactMatch UMLS:C1414428, + HGNC:3383, + HGNC_symbol:STOM ; biolink:category biolink:Gene . OMIM:133170 a owl:Class ; @@ -25090,13 +25675,14 @@ OMIM:133170 a owl:Class ; PMID:9539790 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:612623 ; - oboInOwl:hasDbXref UMLS:C1366564 ; oboInOwl:hasExactSynonym "EPO", "ep", "erythropoietin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2056 ; - skos:exactMatch HGNC_symbol:EPO ; + skos:exactMatch UMLS:C1366564, + HGNC:3415, + HGNC_symbol:EPO ; biolink:category biolink:Gene . OMIM:133171 a owl:Class ; @@ -25132,12 +25718,13 @@ OMIM:133171 a owl:Class ; PMID:9649565 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:133100 ; - oboInOwl:hasDbXref UMLS:C1333342 ; oboInOwl:hasExactSynonym "EPOR", "erythropoietin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2057 ; - skos:exactMatch HGNC_symbol:EPOR ; + skos:exactMatch UMLS:C1333342, + HGNC:3416, + HGNC_symbol:EPOR ; biolink:category biolink:Gene . OMIM:133190 a owl:Class ; @@ -25145,11 +25732,11 @@ OMIM:133190 a owl:Class ; IAO:0000142 PMID:24566826, PMID:26010696, PMID:5048218 ; - oboInOwl:hasDbXref UMLS:C1851481 ; oboInOwl:hasExactSynonym "SCA34", "erythrokeratodermia with ataxia", "spinocerebellar ataxia 34" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1851481 ; biolink:category biolink:Disease . OMIM:133220 a owl:Class ; @@ -25157,31 +25744,32 @@ OMIM:133220 a owl:Class ; IAO:0000142 PMID:4501118, PMID:6604488, PMID:6946513 ; - oboInOwl:hasDbXref UMLS:C1414456 ; oboInOwl:hasExactSynonym "ESA4", "esterase a4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2090 ; - skos:exactMatch HGNC_symbol:ESA4 ; + skos:exactMatch UMLS:C1414456, + HGNC:3462, + HGNC_symbol:ESA4 ; biolink:category biolink:Gene . OMIM:133230 a owl:Class ; rdfs:label "ESA5" ; IAO:0000142 PMID:7114789 ; - oboInOwl:hasDbXref UMLS:C1851477 ; oboInOwl:hasExactSynonym "ESA5", "acetylesterase, adult brain", "acetylesterase, fetal brain", "esa7", "esterase a-5" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1851477 ; biolink:category biolink:Gene . OMIM:133240 a owl:Class ; rdfs:label "esophageal ring, lower" ; IAO:0000142 PMID:7088122 ; - oboInOwl:hasDbXref UMLS:C0341137 ; - oboInOwl:hasExactSynonym "esophageal ring, lower" . + oboInOwl:hasExactSynonym "esophageal ring, lower" ; + skos:exactMatch UMLS:C0341137 . OMIM:133250 a owl:Class ; IAO:0100001 OMIM:172460 ; @@ -25189,15 +25777,15 @@ OMIM:133250 a owl:Class ; OMIM:133260 a owl:Class ; rdfs:label "esterase B" ; - oboInOwl:hasDbXref UMLS:C0054741 ; oboInOwl:hasExactSynonym "ESB", - "esterase B" . + "esterase B" ; + skos:exactMatch UMLS:C0054741 . OMIM:133270 a owl:Class ; rdfs:label "esterase c" ; - oboInOwl:hasDbXref UMLS:C1851476 ; oboInOwl:hasExactSynonym "ESC", - "esterase c" . + "esterase c" ; + skos:exactMatch UMLS:C1851476 . OMIM:133280 a owl:Class ; rdfs:label "ESD" ; @@ -25235,31 +25823,33 @@ OMIM:133280 a owl:Class ; PMID:885549, PMID:910860, PMID:950243 ; - oboInOwl:hasDbXref UMLS:C1414459 ; oboInOwl:hasExactSynonym "ESD", "esterase d", "s-formylglutathione hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2098 ; - skos:exactMatch HGNC_symbol:ESD ; + skos:exactMatch UMLS:C1414459, + HGNC:3465, + HGNC_symbol:ESD ; biolink:category biolink:Gene . OMIM:133290 a owl:Class ; rdfs:label "ESB3" ; IAO:0000142 PMID:3481956 ; - oboInOwl:hasDbXref UMLS:C1414458 ; oboInOwl:hasExactSynonym "ESB3", "esterase b3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2097 ; - skos:exactMatch HGNC_symbol:ESB3 ; + skos:exactMatch UMLS:C1414458, + HGNC:3464, + HGNC_symbol:ESB3 ; biolink:category biolink:Gene . OMIM:133300 a owl:Class ; rdfs:label "esterase es-2, regulator for" ; IAO:0000142 PMID:4920091 ; - oboInOwl:hasDbXref UMLS:C1851475 ; - oboInOwl:hasExactSynonym "esterase es-2, regulator for" . + oboInOwl:hasExactSynonym "esterase es-2, regulator for" ; + skos:exactMatch UMLS:C1851475 . OMIM:133420 a owl:Class ; IAO:0100001 OMIM:113710 ; @@ -25385,18 +25975,19 @@ OMIM:133430 a owl:Class ; PMID:9875847 ; RO:0002525 CHR:9606chr6q25.1-q25.2 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1414461, - UMLS:C1832662, - UMLS:C3809250, - UMLS:C4016037, - UMLS:C4016038 ; oboInOwl:hasExactSynonym "ESR1", "estrogen receptor", "estrogen receptor 1", "estrogen receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2099 ; - skos:exactMatch HGNC_symbol:ESR1 ; + skos:exactMatch UMLS:C1414461, + UMLS:C1832662, + UMLS:C3809250, + UMLS:C4016037, + UMLS:C4016038, + HGNC:3467, + HGNC_symbol:ESR1 ; biolink:category biolink:Gene . OMIM:133435 a owl:Class ; @@ -25428,8 +26019,6 @@ OMIM:133435 a owl:Class ; PMID:9618262, PMID:9661669, PMID:9790752 ; - oboInOwl:hasDbXref UMLS:C1539715, - UMLS:C1851466 ; oboInOwl:hasExactSynonym "RUNX1T1", "acute myelogenous leukemia 1 translocation 1, cyclin-d related", "core-binding factor, alpha subunit 2, translocated to, 1", @@ -25441,7 +26030,10 @@ OMIM:133435 a owl:Class ; "zinc finger mynd domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:862 ; - skos:exactMatch HGNC_symbol:RUNX1T1 ; + skos:exactMatch UMLS:C1539715, + UMLS:C1851466, + HGNC:1535, + HGNC_symbol:RUNX1T1 ; biolink:category biolink:Gene . OMIM:133450 a owl:Class ; @@ -25478,19 +26070,6 @@ OMIM:133450 a owl:Class ; PMID:9858836 ; RO:0002525 CHR:9606chr22q12.2 ; RO:0003303 OMIM:612219 ; - oboInOwl:hasDbXref UMLS:C0808901, - UMLS:C1851464, - UMLS:C1851465, - UMLS:C1852404, - UMLS:C1854595, - UMLS:C1860425, - UMLS:C2675456, - UMLS:C2675457, - UMLS:C2677452, - UMLS:C3151207, - UMLS:C3274610, - UMLS:C3274636, - UMLS:C3274643 ; oboInOwl:hasExactSynonym "EWSR1", "ewing sarcoma breakpoint region 1", "ews gene", @@ -25509,14 +26088,28 @@ OMIM:133450 a owl:Class ; "ews/znf278 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2130 ; - skos:exactMatch HGNC_symbol:EWSR1 ; + skos:exactMatch UMLS:C0808901, + UMLS:C1851464, + UMLS:C1851465, + UMLS:C1852404, + UMLS:C1854595, + UMLS:C1860425, + UMLS:C2675456, + UMLS:C2675457, + UMLS:C2677452, + UMLS:C3151207, + UMLS:C3274610, + UMLS:C3274636, + UMLS:C3274643, + HGNC:3508, + HGNC_symbol:EWSR1 ; biolink:category biolink:Gene . OMIM:133500 a owl:Class ; rdfs:label "exchondrosis of pinna, posterior" ; - oboInOwl:hasDbXref UMLS:C1851463 ; oboInOwl:hasExactSynonym "ear bump", "exchondrosis of pinna, posterior" ; + skos:exactMatch UMLS:C1851463 ; biolink:category biolink:Disease . OMIM:133510 a owl:Class ; @@ -25543,13 +26136,14 @@ OMIM:133510 a owl:Class ; PMID:9012405 ; RO:0002525 CHR:9606chr2q14.3 ; RO:0003303 OMIM:610651 ; - oboInOwl:hasDbXref UMLS:C1333357 ; oboInOwl:hasExactSynonym "ERCC3", "excision repair, complementing defective, 1n chinese hamster, 3", "xpb gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2071 ; - skos:exactMatch HGNC_symbol:ERCC3 ; + skos:exactMatch UMLS:C1333357, + HGNC:3435, + HGNC_symbol:ERCC3 ; biolink:category biolink:Gene . OMIM:133520 a owl:Class ; @@ -25569,13 +26163,14 @@ OMIM:133520 a owl:Class ; PMID:9579555 ; RO:0002525 CHR:9606chr16p13.12 ; RO:0003303 OMIM:278760 ; - oboInOwl:hasDbXref UMLS:C1333358 ; oboInOwl:hasExactSynonym "ERCC4", "excision repair, complementing defective, 1n chinese hamster, 4", "xpf gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2072 ; - skos:exactMatch HGNC_symbol:ERCC4 ; + skos:exactMatch UMLS:C1333358, + HGNC:3436, + HGNC_symbol:ERCC4 ; biolink:category biolink:Gene . OMIM:133530 a owl:Class ; @@ -25622,10 +26217,6 @@ OMIM:133530 a owl:Class ; PMID:9096355 ; RO:0002525 CHR:9606chr13q33.1 ; RO:0003303 OMIM:278780 ; - oboInOwl:hasDbXref UMLS:C0268141, - UMLS:C1333359, - UMLS:C1851443, - UMLS:C4016040 ; oboInOwl:hasExactSynonym "ERCC5", "ercm2", "excision repair, complementing defective, 1n chinese hamster, 5", @@ -25635,7 +26226,12 @@ OMIM:133530 a owl:Class ; "xpg gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2073 ; - skos:exactMatch HGNC_symbol:ERCC5 ; + skos:exactMatch UMLS:C0268141, + UMLS:C1333359, + UMLS:C1851443, + UMLS:C4016040, + HGNC:3437, + HGNC_symbol:ERCC5 ; biolink:category biolink:Gene . OMIM:133535 a owl:Class ; @@ -25651,13 +26247,13 @@ OMIM:133540 a owl:Class ; PMID:26204423, PMID:8294592, PMID:9443879 ; - oboInOwl:hasDbXref UMLS:C0751038, + oboInOwl:hasExactSynonym "CSB", + "Cockayne syndrome B" ; + skos:exactMatch UMLS:C0751038, ORPHA:191, ORPHA:90321, ORPHA:90322, ORPHA:90324 ; - oboInOwl:hasExactSynonym "CSB", - "Cockayne syndrome B" ; biolink:category biolink:Disease . OMIM:133550 a owl:Class ; @@ -25674,7 +26270,6 @@ OMIM:133550 a owl:Class ; PMID:9233792 ; RO:0002525 CHR:9606chr9p24.2 ; RO:0003303 OMIM:615232 ; - oboInOwl:hasDbXref UMLS:C1420119 ; oboInOwl:hasExactSynonym "SLC1A1", "eaat3", "excitatory amino acid carrier 1", @@ -25682,21 +26277,23 @@ OMIM:133550 a owl:Class ; "solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6505 ; - skos:exactMatch HGNC_symbol:SLC1A1 ; + skos:exactMatch UMLS:C1420119, + HGNC:10939, + HGNC_symbol:SLC1A1 ; biolink:category biolink:Gene . OMIM:133600 a owl:Class ; rdfs:label "exostoses of heel" ; IAO:0000142 PMID:4127280, PMID:6334736 ; - oboInOwl:hasDbXref UMLS:C0877431 ; - oboInOwl:hasExactSynonym "exostoses of heel" . + oboInOwl:hasExactSynonym "exostoses of heel" ; + skos:exactMatch UMLS:C0877431 . OMIM:133690 a owl:Class ; rdfs:label "exostoses with anetodermia and brachydactyly, iia e" ; IAO:0000142 PMID:6334993 ; - oboInOwl:hasDbXref UMLS:C1851428 ; - oboInOwl:hasExactSynonym "exostoses with anetodermia and brachydactyly, iia e" . + oboInOwl:hasExactSynonym "exostoses with anetodermia and brachydactyly, iia e" ; + skos:exactMatch UMLS:C1851428 . OMIM:133701 a owl:Class ; rdfs:label "exostoses, multiple, iia 2" ; @@ -25716,10 +26313,10 @@ OMIM:133701 a owl:Class ; PMID:8894688, PMID:9326317, PMID:9463333 ; - oboInOwl:hasDbXref UMLS:C1851413, - ORPHA:321 ; oboInOwl:hasExactSynonym "EXT2", "exostoses, multiple, iia 2" ; + skos:exactMatch UMLS:C1851413, + ORPHA:321 ; biolink:category biolink:Disease . OMIM:133705 a owl:Class ; @@ -25727,9 +26324,9 @@ OMIM:133705 a owl:Class ; IAO:0000142 PMID:12116258, PMID:22152683, PMID:495079 ; - oboInOwl:hasDbXref UMLS:C1876181 ; oboInOwl:hasExactSynonym "external auditory canal, bilateral atresia of, with congenital vertical talus", - "rasmussen syndrome" . + "rasmussen syndrome" ; + skos:exactMatch UMLS:C1876181 . OMIM:133710 a owl:Class ; owl:deprecated true . @@ -25742,28 +26339,28 @@ OMIM:133740 a owl:Class ; OMIM:133750 a owl:Class ; rdfs:label "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" ; - oboInOwl:hasDbXref UMLS:C1851412 ; - oboInOwl:hasExactSynonym "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" . + oboInOwl:hasExactSynonym "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" ; + skos:exactMatch UMLS:C1851412 . OMIM:133800 a owl:Class ; rdfs:label "eyebrow, whorl 1n" ; - oboInOwl:hasDbXref UMLS:C1851401 ; - oboInOwl:hasExactSynonym "eyebrow, whorl 1n" . + oboInOwl:hasExactSynonym "eyebrow, whorl 1n" ; + skos:exactMatch UMLS:C1851401 . OMIM:133900 a owl:Class ; rdfs:label "hemifacial hyperplasia" ; IAO:0000142 PMID:14494649, PMID:6935582 ; - oboInOwl:hasDbXref UMLS:C1399354 ; oboInOwl:hasExactSynonym "facial asymmetry", "facial hemihypertrophy", "hemifacial hyperplasia", - "hemifacial hypertrophy" . + "hemifacial hypertrophy" ; + skos:exactMatch UMLS:C1399354 . OMIM:134000 a owl:Class ; rdfs:label "facial hypertrichosis" ; - oboInOwl:hasDbXref UMLS:C1851400 ; - oboInOwl:hasExactSynonym "facial hypertrichosis" . + oboInOwl:hasExactSynonym "facial hypertrichosis" ; + skos:exactMatch UMLS:C1851400 . OMIM:134100 a owl:Class ; IAO:0100001 OMIM:601471 ; @@ -25773,14 +26370,14 @@ OMIM:134200 a owl:Class ; rdfs:label "facial palsy, familial recurrent peripheral" ; IAO:0000142 PMID:14128704, PMID:7247773 ; - oboInOwl:hasDbXref UMLS:C1851399 ; oboInOwl:hasExactSynonym "facial palsy, familial recurrent peripheral" ; + skos:exactMatch UMLS:C1851399 ; biolink:category biolink:Disease . OMIM:134300 a owl:Class ; rdfs:label "facial spasm" ; - oboInOwl:hasDbXref UMLS:C0278151 ; - oboInOwl:hasExactSynonym "facial spasm" . + oboInOwl:hasExactSynonym "facial spasm" ; + skos:exactMatch UMLS:C0278151 . OMIM:134350 a owl:Class ; rdfs:label "CFD" ; @@ -25797,14 +26394,15 @@ OMIM:134350 a owl:Class ; PMID:9306323 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:613912 ; - oboInOwl:hasDbXref UMLS:C1824729 ; oboInOwl:hasExactSynonym "CFD", "adipsin", "complement factor d", "factor d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1675 ; - skos:exactMatch HGNC_symbol:CFD ; + skos:exactMatch UMLS:C1824729, + HGNC:2771, + HGNC_symbol:CFD ; biolink:category biolink:Gene . OMIM:134370 a owl:Class ; @@ -25900,7 +26498,6 @@ OMIM:134370 a owl:Class ; PMID:9848786 ; RO:0002525 CHR:9606chr1q31.3 ; RO:0003303 OMIM:610698 ; - oboInOwl:hasDbXref UMLS:C1538440 ; oboInOwl:hasExactSynonym "CFH", "complement factor h", "complement factor h-like 1", @@ -25909,7 +26506,9 @@ OMIM:134370 a owl:Class ; "h factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3075 ; - skos:exactMatch HGNC_symbol:CFH ; + skos:exactMatch UMLS:C1538440, + HGNC:4883, + HGNC_symbol:CFH ; biolink:category biolink:Gene . OMIM:134371 a owl:Class ; @@ -25930,14 +26529,15 @@ OMIM:134371 a owl:Class ; PMID:8172644 ; RO:0002525 CHR:9606chr1q31.3 ; RO:0003303 OMIM:603075 ; - oboInOwl:hasDbXref UMLS:C1538441 ; oboInOwl:hasExactSynonym "CFHR1", "complement factor h-related 1", "factor h-related gene 1", "h factor-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3078 ; - skos:exactMatch HGNC_symbol:CFHR1 ; + skos:exactMatch UMLS:C1538441, + HGNC:4888, + HGNC_symbol:CFHR1 ; biolink:category biolink:Gene . OMIM:134390 a owl:Class ; @@ -25959,33 +26559,34 @@ OMIM:134390 a owl:Class ; PMID:3399965, PMID:4023720, PMID:9192667 ; - oboInOwl:hasDbXref UMLS:C1333522 ; oboInOwl:hasExactSynonym "F3", "coagulation factor 3", "tissue factor", "tissue thromboplastin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2152 ; - skos:exactMatch HGNC_symbol:F3 ; + skos:exactMatch UMLS:C1333522, + HGNC:3541, + HGNC_symbol:F3 ; biolink:category biolink:Gene . OMIM:134400 a owl:Class ; rdfs:label "factor 5 excess with spontaneous thrombosis" ; IAO:0000142 PMID:5903309 ; - oboInOwl:hasDbXref UMLS:C1851378 ; oboInOwl:hasExactSynonym "factor 5 excess with spontaneous thrombosis", "proaccelerin excess", - "thrombophilia with elevated factor 5" . + "thrombophilia with elevated factor 5" ; + skos:exactMatch UMLS:C1851378 . OMIM:134430 a owl:Class ; rdfs:label "factor 7 and factor viii, combined deficiency of" ; IAO:0000142 PMID:6769283, PMID:6794149, PMID:816157 ; - oboInOwl:hasDbXref UMLS:C1851377 ; oboInOwl:hasExactSynonym "factor 7 and factor viii, combined deficiency of", "familial multiple coagulation factor deficiency 4", - "multiple coagulation factor deficiency 4" . + "multiple coagulation factor deficiency 4" ; + skos:exactMatch UMLS:C1851377 . OMIM:134450 a owl:Class ; IAO:0100001 OMIM:613878 ; @@ -25997,28 +26598,28 @@ OMIM:134500 a owl:Class ; PMID:4177509, PMID:4546581, PMID:5865598 ; - oboInOwl:hasDbXref UMLS:C3494187 ; oboInOwl:hasExactSynonym "autosomal hemophilia a", - "factor 8 deficiency" . + "factor 8 deficiency" ; + skos:exactMatch UMLS:C3494187 . OMIM:134510 a owl:Class ; rdfs:label "factor 8 and factor ix, combined deficiency of" ; IAO:0000142 PMID:13315903, PMID:14214137, PMID:6794149 ; - oboInOwl:hasDbXref UMLS:C1851376 ; oboInOwl:hasExactSynonym "F8F9D", "factor 8 and factor ix, combined deficiency of", - "familial multiple coagulation factor deficiency 2" . + "familial multiple coagulation factor deficiency 2" ; + skos:exactMatch UMLS:C1851376 . OMIM:134520 a owl:Class ; rdfs:label "factors viii, 9 and xi, combined deficiency of" ; IAO:0000142 PMID:14111341, PMID:6794150 ; - oboInOwl:hasDbXref UMLS:C1851375 ; oboInOwl:hasExactSynonym "factors viii, 9 and xi, combined deficiency of", "familial multiple coagulation factor deficiency 5", - "multiple coagulation factor deficiency 5" . + "multiple coagulation factor deficiency 5" ; + skos:exactMatch UMLS:C1851375 . OMIM:134530 a owl:Class ; IAO:0100001 OMIM:227600 ; @@ -26027,10 +26628,10 @@ OMIM:134530 a owl:Class ; OMIM:134540 a owl:Class ; rdfs:label "factor 9 and factor xi, combined deficiency of" ; IAO:0000142 PMID:6794150 ; - oboInOwl:hasDbXref UMLS:C1851374 ; oboInOwl:hasExactSynonym "factor 9 and factor xi, combined deficiency of", "familial multiple coagulation factor deficiency 6", - "multiple coagulation factor deficiency 6" . + "multiple coagulation factor deficiency 6" ; + skos:exactMatch UMLS:C1851374 . OMIM:134570 a owl:Class ; rdfs:label "F13A1" ; @@ -26087,7 +26688,6 @@ OMIM:134570 a owl:Class ; PMID:9712293 ; RO:0002525 CHR:9606chr6p25.1 ; RO:0003303 OMIM:188050 ; - oboInOwl:hasDbXref UMLS:C1414500 ; oboInOwl:hasExactSynonym "F13A1", "f13a", "factor xiii, a1 subunit", @@ -26097,7 +26697,9 @@ OMIM:134570 a owl:Class ; "transglutaminase, plasma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2162 ; - skos:exactMatch HGNC_symbol:F13A1 ; + skos:exactMatch UMLS:C1414500, + HGNC:3531, + HGNC_symbol:F13A1 ; biolink:category biolink:Gene . OMIM:134580 a owl:Class ; @@ -26124,14 +26726,15 @@ OMIM:134580 a owl:Class ; PMID:8639893 ; RO:0002525 CHR:9606chr1q31.3 ; RO:0003303 OMIM:613235 ; - oboInOwl:hasDbXref UMLS:C1414503 ; oboInOwl:hasExactSynonym "F13B", "factor xiii, B subunit", "fibrin stabilizing factor, B subunit", "fsf, B subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2165 ; - skos:exactMatch HGNC_symbol:F13B ; + skos:exactMatch UMLS:C1414503, + HGNC:3534, + HGNC_symbol:F13B ; biolink:category biolink:Gene . OMIM:134610 a owl:Class ; @@ -26144,10 +26747,10 @@ OMIM:134610 a owl:Class ; PMID:3682954, PMID:5412026, PMID:5678100 ; - oboInOwl:hasDbXref UMLS:C1851347, - ORPHA:342 ; oboInOwl:hasExactSynonym "familial mediterranean fever, autosomal dominant", "fmf, autosomal dominant" ; + skos:exactMatch UMLS:C1851347, + ORPHA:342 ; biolink:category biolink:Disease . OMIM:134631 a owl:Class ; @@ -26171,13 +26774,14 @@ OMIM:134635 a owl:Class ; PMID:8276393, PMID:8599089, PMID:8678990 ; - oboInOwl:hasDbXref UMLS:C1414655 ; oboInOwl:hasExactSynonym "FNTA", "farnesyltransferase, caax box, alpha", "protein geranylgeranyltransferase iia i, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2339 ; - skos:exactMatch HGNC_symbol:FNTA ; + skos:exactMatch UMLS:C1414655, + HGNC:3782, + HGNC_symbol:FNTA ; biolink:category biolink:Gene . OMIM:134636 a owl:Class ; @@ -26185,12 +26789,13 @@ OMIM:134636 a owl:Class ; IAO:0000142 PMID:12374986, PMID:20106865, PMID:8276393 ; - oboInOwl:hasDbXref UMLS:C1414658 ; oboInOwl:hasExactSynonym "FNTB", "farnesyltransferase, caax box, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2342 ; - skos:exactMatch HGNC_symbol:FNTB ; + skos:exactMatch UMLS:C1414658, + HGNC:3785, + HGNC_symbol:FNTB ; biolink:category biolink:Gene . OMIM:134637 a owl:Class ; @@ -26256,7 +26861,6 @@ OMIM:134637 a owl:Class ; PMID:9927496 ; RO:0002525 CHR:9606chr10q23.31 ; RO:0003303 OMIM:601859 ; - oboInOwl:hasDbXref UMLS:C1539477 ; oboInOwl:hasExactSynonym "FAS", "apoptosis antigen 1", "cd95", @@ -26266,7 +26870,9 @@ OMIM:134637 a owl:Class ; "tumor necrosis factor receptor superfamily, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:355 ; - skos:exactMatch HGNC_symbol:FAS ; + skos:exactMatch UMLS:C1539477, + HGNC:11920, + HGNC_symbol:FAS ; biolink:category biolink:Gene . OMIM:134638 a owl:Class ; @@ -26299,7 +26905,6 @@ OMIM:134638 a owl:Class ; PMID:9774279 ; RO:0002525 CHR:9606chr1q24.3 ; RO:0003303 OMIM:211980 ; - oboInOwl:hasDbXref UMLS:C1539478 ; oboInOwl:hasExactSynonym "FASLG", "apoptosis antigen ligand", "apoptosis antigen ligand 1", @@ -26310,7 +26915,9 @@ OMIM:134638 a owl:Class ; "tumor necrosis factor ligand superfamily, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:356 ; - skos:exactMatch HGNC_symbol:FASLG ; + skos:exactMatch UMLS:C1539478, + HGNC:11936, + HGNC_symbol:FASLG ; biolink:category biolink:Gene . OMIM:134640 a owl:Class ; @@ -26329,27 +26936,29 @@ OMIM:134640 a owl:Class ; PMID:8454101, PMID:8954037, PMID:9253345 ; - oboInOwl:hasDbXref UMLS:C1333525 ; oboInOwl:hasExactSynonym "FABP2", "fatty acid-binding protein 2", "fatty acid-binding protein, intestinal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2169 ; - skos:exactMatch HGNC_symbol:FABP2 ; + skos:exactMatch UMLS:C1333525, + HGNC:3556, + HGNC_symbol:FABP2 ; biolink:category biolink:Gene . OMIM:134650 a owl:Class ; rdfs:label "FABP1" ; IAO:0000142 PMID:2824476, PMID:3012800 ; - oboInOwl:hasDbXref UMLS:C1333524 ; oboInOwl:hasExactSynonym "FABP1", "fatty acid-binding protein 1", "fatty acid-binding protein, liver", "z protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2168 ; - skos:exactMatch HGNC_symbol:FABP1 ; + skos:exactMatch UMLS:C1333524, + HGNC:3555, + HGNC_symbol:FABP1 ; biolink:category biolink:Gene . OMIM:134651 a owl:Class ; @@ -26363,7 +26972,6 @@ OMIM:134651 a owl:Class ; PMID:7926807, PMID:8262516, PMID:8661024 ; - oboInOwl:hasDbXref UMLS:C1333526 ; oboInOwl:hasExactSynonym "FABP3", "fatty acid-binding protein 3", "fatty acid-binding protein, muscle and heart", @@ -26371,7 +26979,9 @@ OMIM:134651 a owl:Class ; "mammary-derived growth inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2170 ; - skos:exactMatch HGNC_symbol:FABP3 ; + skos:exactMatch UMLS:C1333526, + HGNC:3557, + HGNC_symbol:FABP3 ; biolink:category biolink:Gene . OMIM:134690 a owl:Class ; @@ -26381,13 +26991,14 @@ OMIM:134690 a owl:Class ; PMID:7774934, PMID:8406491, PMID:8938448 ; - oboInOwl:hasDbXref UMLS:C1414536 ; oboInOwl:hasExactSynonym "FAU", "fau ubiquitin-like and ribosomal protein s30 fusion", "fbr-musv associated ubiquitously expressed gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2197 ; - skos:exactMatch HGNC_symbol:FAU ; + skos:exactMatch UMLS:C1414536, + HGNC:3597, + HGNC_symbol:FAU ; biolink:category biolink:Gene . OMIM:134700 a owl:Class ; @@ -26401,8 +27012,8 @@ OMIM:134750 a owl:Class ; PMID:6934775, PMID:7362694, PMID:984910 ; - oboInOwl:hasDbXref UMLS:C0015773 ; - oboInOwl:hasExactSynonym "felty syndrome" . + oboInOwl:hasExactSynonym "felty syndrome" ; + skos:exactMatch UMLS:C0015773 . OMIM:134770 a owl:Class ; rdfs:label "FTH1" ; @@ -26435,7 +27046,6 @@ OMIM:134770 a owl:Class ; PMID:9924025 ; RO:0002525 CHR:9606chr11q12.3 ; RO:0003303 OMIM:615517 ; - oboInOwl:hasDbXref UMLS:C1414833 ; oboInOwl:hasExactSynonym "FTH1", "ferritin heavy chain 1", "fhc", @@ -26443,7 +27053,9 @@ OMIM:134770 a owl:Class ; "fthl6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2495 ; - skos:exactMatch HGNC_symbol:FTH1 ; + skos:exactMatch UMLS:C1414833, + HGNC:3976, + HGNC_symbol:FTH1 ; biolink:category biolink:Gene . OMIM:134780 a owl:Class ; @@ -26462,10 +27074,10 @@ OMIM:134780 a owl:Class ; PMID:7405957, PMID:7677141, PMID:8929957 ; - oboInOwl:hasDbXref UMLS:C0265263 ; oboInOwl:hasExactSynonym "FFS", "femoral hypoplasia-unusual facies syndrome", - "femoral-facial syndrome" . + "femoral-facial syndrome" ; + skos:exactMatch UMLS:C0265263 . OMIM:134790 a owl:Class ; rdfs:label "FTL" ; @@ -26510,25 +27122,27 @@ OMIM:134790 a owl:Class ; PMID:9457670 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:606159 ; - oboInOwl:hasDbXref UMLS:C1414852 ; oboInOwl:hasExactSynonym "FTL", "ferritin light chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2512 ; - skos:exactMatch HGNC_symbol:FTL ; + skos:exactMatch UMLS:C1414852, + HGNC:3999, + HGNC_symbol:FTL ; biolink:category biolink:Gene . OMIM:134795 a owl:Class ; rdfs:label "FBL" ; IAO:0000142 PMID:1731817, PMID:1846968 ; - oboInOwl:hasDbXref UMLS:C1414538 ; oboInOwl:hasExactSynonym "FBL", "fibrillarin", "flrn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2091 ; - skos:exactMatch HGNC_symbol:FBL ; + skos:exactMatch UMLS:C1414538, + HGNC:3599, + HGNC_symbol:FBL ; biolink:category biolink:Gene . OMIM:134797 a owl:Class ; @@ -26684,7 +27298,12 @@ OMIM:134797 a owl:Class ; PMID:9837823 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:608328 ; - oboInOwl:hasDbXref UMLS:C0024796, + oboInOwl:hasExactSynonym "FBN1", + "fibrillin", + "fibrillin 1" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:2200 ; + skos:exactMatch UMLS:C0024796, UMLS:C0265287, UMLS:C1414542, UMLS:C1858556, @@ -26701,13 +27320,9 @@ OMIM:134797 a owl:Class ; UMLS:C4016057, UMLS:C4016059, UMLS:C4016060, - UMLS:C4310796 ; - oboInOwl:hasExactSynonym "FBN1", - "fibrillin", - "fibrillin 1" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:2200 ; - skos:exactMatch HGNC_symbol:FBN1 ; + UMLS:C4310796, + HGNC:3603, + HGNC_symbol:FBN1 ; biolink:category biolink:Gene . OMIM:134820 a owl:Class ; @@ -26806,13 +27421,14 @@ OMIM:134820 a owl:Class ; PMID:9916133 ; RO:0002525 CHR:9606chr4q31.3 ; RO:0003303 OMIM:616004 ; - oboInOwl:hasDbXref UMLS:C1414592 ; oboInOwl:hasExactSynonym "FGA", "fibrinogen, a alpha polypeptide", "fibrinogen--alpha polypeptide chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2243 ; - skos:exactMatch HGNC_symbol:FGA ; + skos:exactMatch UMLS:C1414592, + HGNC:3661, + HGNC_symbol:FGA ; biolink:category biolink:Gene . OMIM:134830 a owl:Class ; @@ -26840,13 +27456,14 @@ OMIM:134830 a owl:Class ; PMID:9185528 ; RO:0002525 CHR:9606chr4q31.3 ; RO:0003303 OMIM:202400 ; - oboInOwl:hasDbXref UMLS:C1414593 ; oboInOwl:hasExactSynonym "FGB", "fibrinogen, B beta polypeptide", "fibrinogen--beta polypeptide chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2244 ; - skos:exactMatch HGNC_symbol:FGB ; + skos:exactMatch UMLS:C1414593, + HGNC:3662, + HGNC_symbol:FGB ; biolink:category biolink:Gene . OMIM:134850 a owl:Class ; @@ -26902,20 +27519,21 @@ OMIM:134850 a owl:Class ; PMID:9368024 ; RO:0002525 CHR:9606chr4q32.1 ; RO:0003303 OMIM:202400 ; - oboInOwl:hasDbXref UMLS:C1414607 ; oboInOwl:hasExactSynonym "FGG", "fibrinogen, g gamma polypeptide", "fibrinogen--gamma polypeptide chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2266 ; - skos:exactMatch HGNC_symbol:FGG ; + skos:exactMatch UMLS:C1414607, + HGNC:3694, + HGNC_symbol:FGG ; biolink:category biolink:Gene . OMIM:134900 a owl:Class ; rdfs:label "fibrinolytic defect" ; IAO:0000142 PMID:5676420 ; - oboInOwl:hasDbXref UMLS:C1851184 ; - oboInOwl:hasExactSynonym "fibrinolytic defect" . + oboInOwl:hasExactSynonym "fibrinolytic defect" ; + skos:exactMatch UMLS:C1851184 . OMIM:134920 a owl:Class ; rdfs:label "FGF2" ; @@ -26947,13 +27565,14 @@ OMIM:134920 a owl:Class ; PMID:9323126, PMID:9576942, PMID:9687490 ; - oboInOwl:hasDbXref UMLS:C0919506 ; oboInOwl:hasExactSynonym "FGF2", "fibroblast growth factor 2", "fibroblast growth factor, basic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2247 ; - skos:exactMatch HGNC_symbol:FGF2 ; + skos:exactMatch UMLS:C0919506, + HGNC:3676, + HGNC_symbol:FGF2 ; biolink:category biolink:Gene . OMIM:134921 a owl:Class ; @@ -26963,13 +27582,14 @@ OMIM:134921 a owl:Class ; PMID:1549352, PMID:2649847, PMID:8020938 ; - oboInOwl:hasDbXref UMLS:C0812296 ; oboInOwl:hasExactSynonym "FGF6", "fibroblast growth factor 6", "hst2 oncogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2251 ; - skos:exactMatch HGNC_symbol:FGF6 ; + skos:exactMatch UMLS:C0812296, + HGNC:3684, + HGNC_symbol:FGF6 ; biolink:category biolink:Gene . OMIM:134934 a owl:Class ; @@ -27108,13 +27728,14 @@ OMIM:134934 a owl:Class ; PMID:9950359 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:187601 ; - oboInOwl:hasDbXref UMLS:C1333543 ; oboInOwl:hasExactSynonym "FGFR3", "fgfr3/tacc3 fusion gene", "fibroblast growth factor receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2261 ; - skos:exactMatch HGNC_symbol:FGFR3 ; + skos:exactMatch UMLS:C1333543, + HGNC:3690, + HGNC_symbol:FGFR3 ; biolink:category biolink:Gene . OMIM:135000 a owl:Class ; @@ -27152,11 +27773,11 @@ OMIM:135150 a owl:Class ; PMID:939573, PMID:9679872, PMID:9835964 ; - oboInOwl:hasDbXref UMLS:C0346010 ; oboInOwl:hasExactSynonym "BHD", "birt-hogg-dube syndrome", "fibrofolliculomas with trichodiscomas and acrochordons", "hornstein-knickenberg syndrome" ; + skos:exactMatch UMLS:C0346010 ; biolink:category biolink:Disease . OMIM:135290 a owl:Class ; @@ -27170,12 +27791,12 @@ OMIM:135290 a owl:Class ; PMID:8940262, PMID:8940264, PMID:8968744 ; - oboInOwl:hasDbXref UMLS:C1851124, - ORPHA:873 ; oboInOwl:hasExactSynonym "DESMD", "desmoid disease, hereditary", "desmoid tumor caused by somatic mutation", "fibromatosis, familial infiltrative" ; + skos:exactMatch UMLS:C1851124, + ORPHA:873 ; biolink:category biolink:Disease . OMIM:135300 a owl:Class ; @@ -27191,23 +27812,23 @@ OMIM:135300 a owl:Class ; PMID:5235465, PMID:6023087, PMID:9529355 ; - oboInOwl:hasDbXref UMLS:C0399440, - UMLS:C4551558 ; oboInOwl:hasExactSynonym "GINGF1", "fibromatosis, gingival, 1", "fibromatosis, gingival, hereditary", "ggf1", "gingf" ; rdfs:subClassOf OMIMPS:135300 ; + skos:exactMatch UMLS:C0399440, + UMLS:C4551558 ; biolink:category biolink:Disease . OMIM:135550 a owl:Class ; rdfs:label "fibromatosis, gingival, with progressive deafness" ; IAO:0000142 PMID:4061496 ; - oboInOwl:hasDbXref UMLS:C1851112 ; oboInOwl:hasExactSynonym "fibromatosis, gingival, with progressive deafness", "gingival fibromatosis with sensorineural hearing loss", "jones syndrome" ; + skos:exactMatch UMLS:C1851112 ; biolink:category biolink:Disease . OMIM:135580 a owl:Class ; @@ -27228,10 +27849,10 @@ OMIM:135580 a owl:Class ; PMID:851308, PMID:8514866, PMID:951017 ; - oboInOwl:hasDbXref UMLS:C0016052 ; oboInOwl:hasExactSynonym "FMDA", "fibromuscular dysplasia of arteries", - "fibromuscular dysplasia, arterial" . + "fibromuscular dysplasia, arterial" ; + skos:exactMatch UMLS:C0016052 . OMIM:135600 a owl:Class ; rdfs:label "FN1" ; @@ -27278,21 +27899,22 @@ OMIM:135600 a owl:Class ; PMID:8449034 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:184255 ; - oboInOwl:hasDbXref UMLS:C1367472 ; oboInOwl:hasExactSynonym "FN1", "fibronectin 1", "fn", "large, external, transformation-sensitive protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2335 ; - skos:exactMatch HGNC_symbol:FN1 ; + skos:exactMatch UMLS:C1367472, + HGNC:3778, + HGNC_symbol:FN1 ; biolink:category biolink:Gene . OMIM:135610 a owl:Class ; rdfs:label "fibronectin-like 2" ; - oboInOwl:hasDbXref UMLS:C1851110 ; oboInOwl:hasExactSynonym "FNL2", - "fibronectin-like 2" . + "fibronectin-like 2" ; + skos:exactMatch UMLS:C1851110 . OMIM:135620 a owl:Class ; rdfs:label "ITGA5" ; @@ -27308,14 +27930,15 @@ OMIM:135620 a owl:Class ; PMID:2944883, PMID:2958481, PMID:7919661 ; - oboInOwl:hasDbXref UMLS:C1416488 ; oboInOwl:hasExactSynonym "ITGA5", "fibronectin receptor, alpha subunit", "integrin, alpha-5", "very late activation protein 5, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3678 ; - skos:exactMatch HGNC_symbol:ITGA5 ; + skos:exactMatch UMLS:C1416488, + HGNC:6141, + HGNC_symbol:ITGA5 ; biolink:category biolink:Gene . OMIM:135631 a owl:Class ; @@ -27339,8 +27962,6 @@ OMIM:135750 a owl:Class ; PMID:8986279, PMID:9099832, PMID:9339355 ; - oboInOwl:hasDbXref UMLS:C1851100, - ORPHA:2378 ; oboInOwl:hasExactSynonym "LSS", "fibula and ulna, duplication of, with absence of tibia and radius", "laurin-sandrow syndrome", @@ -27349,13 +27970,15 @@ OMIM:135750 a owl:Class ; "mirror-image polydactyly", "sandrow syndrome", "tetramelic mirror-image polydactyly" ; + skos:exactMatch UMLS:C1851100, + ORPHA:2378 ; biolink:category biolink:Disease . OMIM:135800 a owl:Class ; rdfs:label "fibula, recurrent dislocation of head of" ; IAO:0000142 PMID:20918960 ; - oboInOwl:hasDbXref UMLS:C1851099 ; - oboInOwl:hasExactSynonym "fibula, recurrent dislocation of head of" . + oboInOwl:hasExactSynonym "fibula, recurrent dislocation of head of" ; + skos:exactMatch UMLS:C1851099 . OMIM:135820 a owl:Class ; rdfs:label "FBLN1" ; @@ -27372,12 +27995,13 @@ OMIM:135820 a owl:Class ; PMID:9106159 ; RO:0002525 CHR:9606chr22q13.31 ; RO:0003303 OMIM:608180 ; - oboInOwl:hasDbXref UMLS:C1414539 ; oboInOwl:hasExactSynonym "FBLN1", "fibulin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2192 ; - skos:exactMatch HGNC_symbol:FBLN1 ; + skos:exactMatch UMLS:C1414539, + HGNC:3600, + HGNC_symbol:FBLN1 ; biolink:category biolink:Gene . OMIM:135821 a owl:Class ; @@ -27387,12 +28011,13 @@ OMIM:135821 a owl:Class ; PMID:8245130, PMID:8946175, PMID:9887386 ; - oboInOwl:hasDbXref UMLS:C1414540 ; oboInOwl:hasExactSynonym "FBLN2", "fibulin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2199 ; - skos:exactMatch HGNC_symbol:FBLN2 ; + skos:exactMatch UMLS:C1414540, + HGNC:3601, + HGNC_symbol:FBLN2 ; biolink:category biolink:Gene . OMIM:135940 a owl:Class ; @@ -27420,30 +28045,31 @@ OMIM:135940 a owl:Class ; PMID:8276421 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:605803 ; - oboInOwl:hasDbXref UMLS:C1414633 ; oboInOwl:hasExactSynonym "FLG", "filaggrin", "profilaggrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2312 ; - skos:exactMatch HGNC_symbol:FLG ; + skos:exactMatch UMLS:C1414633, + HGNC:3748, + HGNC_symbol:FLG ; biolink:category biolink:Gene . OMIM:135950 a owl:Class ; rdfs:label "finger locking, recurrent, with intrauterine growth retardation and proportionate short stature" ; IAO:0000142 PMID:3812565 ; - oboInOwl:hasDbXref UMLS:C1851081 ; - oboInOwl:hasExactSynonym "finger locking, recurrent, with intrauterine growth retardation and proportionate short stature" . + oboInOwl:hasExactSynonym "finger locking, recurrent, with intrauterine growth retardation and proportionate short stature" ; + skos:exactMatch UMLS:C1851081 . OMIM:136000 a owl:Class ; rdfs:label "adermatoglyphia" ; IAO:0000142 PMID:20619487, PMID:21820097, PMID:24909267 ; - oboInOwl:hasDbXref UMLS:C1852150 ; oboInOwl:hasExactSynonym "ADERM", "adermatoglyphia", "fingerprints, absence of" ; + skos:exactMatch UMLS:C1852150 ; biolink:category biolink:Disease . OMIM:136100 a owl:Class ; @@ -27452,9 +28078,9 @@ OMIM:136100 a owl:Class ; PMID:14943709, PMID:20303062, PMID:20982098 ; - oboInOwl:hasDbXref UMLS:C1851079 ; oboInOwl:hasExactSynonym "2d:4d finger-length ratio", - "fingers, relative length of" . + "fingers, relative length of" ; + skos:exactMatch UMLS:C1851079 . OMIM:136120 a owl:Class ; rdfs:label "fish-eye disease" ; @@ -27468,13 +28094,13 @@ OMIM:136120 a owl:Class ; PMID:6802651, PMID:91022, PMID:92725 ; - oboInOwl:hasDbXref UMLS:C0342895 ; oboInOwl:hasExactSynonym "FED", "alpha-lcat deficiency", "alpha-lecithin:cholesterol acyltransferase deficiency", "dyslipoproteinemic corneal dystrophy", "fish-eye disease", "lcata deficiency" ; + skos:exactMatch UMLS:C0342895 ; biolink:category biolink:Disease . OMIM:136130 a owl:Class ; @@ -27484,13 +28110,14 @@ OMIM:136130 a owl:Class ; PMID:2203193, PMID:8486388, PMID:8654418 ; - oboInOwl:hasDbXref UMLS:C1414643 ; oboInOwl:hasExactSynonym "FMO1", "flavin-containing monooxygenase 1", "fmo, fetal liver" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2326 ; - skos:exactMatch HGNC_symbol:FMO1 ; + skos:exactMatch UMLS:C1414643, + HGNC:3769, + HGNC_symbol:FMO1 ; biolink:category biolink:Gene . OMIM:136131 a owl:Class ; @@ -27498,7 +28125,6 @@ OMIM:136131 a owl:Class ; IAO:0000142 PMID:1417778, PMID:7720101, PMID:8311461 ; - oboInOwl:hasDbXref UMLS:C1414646 ; oboInOwl:hasExactSynonym "FMO4", "flavin-containing monooxygenase 2, formerly", "flavin-containing monooxygenase 4", @@ -27507,7 +28133,9 @@ OMIM:136131 a owl:Class ; "trimethylamine oxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2329 ; - skos:exactMatch HGNC_symbol:FMO4 ; + skos:exactMatch UMLS:C1414646, + HGNC:3772, + HGNC_symbol:FMO4 ; biolink:category biolink:Gene . OMIM:136132 a owl:Class ; @@ -27537,30 +28165,31 @@ OMIM:136132 a owl:Class ; PMID:987532 ; RO:0002525 CHR:9606chr1q24.3 ; RO:0003303 OMIM:602079 ; - oboInOwl:hasDbXref UMLS:C1414645 ; oboInOwl:hasExactSynonym "FMO3", "flavin-containing monooxygenase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2328 ; - skos:exactMatch HGNC_symbol:FMO3 ; + skos:exactMatch UMLS:C1414645, + HGNC:3771, + HGNC_symbol:FMO3 ; biolink:category biolink:Gene . OMIM:136150 a owl:Class ; rdfs:label "flood factor deficiency" ; IAO:0000142 PMID:14489469 ; - oboInOwl:hasDbXref UMLS:C1851056 ; - oboInOwl:hasExactSynonym "flood factor deficiency" . + oboInOwl:hasExactSynonym "flood factor deficiency" ; + skos:exactMatch UMLS:C1851056 . OMIM:136200 a owl:Class ; rdfs:label "flushing of ears and somnolence" ; - oboInOwl:hasDbXref UMLS:C1851055 ; - oboInOwl:hasExactSynonym "flushing of ears and somnolence" . + oboInOwl:hasExactSynonym "flushing of ears and somnolence" ; + skos:exactMatch UMLS:C1851055 . OMIM:136300 a owl:Class ; rdfs:label "flynn-aird syndrome" ; IAO:0000142 PMID:5878601 ; - oboInOwl:hasDbXref UMLS:C0343108 ; oboInOwl:hasExactSynonym "flynn-aird syndrome" ; + skos:exactMatch UMLS:C0343108 ; biolink:category biolink:Disease . OMIM:136350 a owl:Class ; @@ -27640,11 +28269,6 @@ OMIM:136350 a owl:Class ; PMID:9949182 ; RO:0002525 CHR:9606chr8p11.23 ; RO:0003303 OMIM:190440 ; - oboInOwl:hasDbXref UMLS:C0919509, - UMLS:C1851029, - UMLS:C1851030, - UMLS:C1865737, - UMLS:C3549724 ; oboInOwl:hasExactSynonym "FGFR1", "fgfr1/bcr fusion gene", "fgfr1/fgfr1op2 fusion gene", @@ -27655,7 +28279,13 @@ OMIM:136350 a owl:Class ; "fms-like tyrosine kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2260 ; - skos:exactMatch HGNC_symbol:FGFR1 ; + skos:exactMatch UMLS:C0919509, + UMLS:C1851029, + UMLS:C1851030, + UMLS:C1865737, + UMLS:C3549724, + HGNC:3688, + HGNC_symbol:FGFR1 ; biolink:category biolink:Gene . OMIM:136352 a owl:Class ; @@ -27691,23 +28321,24 @@ OMIM:136352 a owl:Class ; PMID:9817924 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:153100 ; - oboInOwl:hasDbXref UMLS:C1333569, - UMLS:C1704423, - UMLS:C4016109, - UMLS:C5394062 ; oboInOwl:hasExactSynonym "FLT4", "fms-like tyrosine kinase 4", "vascular endothelial growth factor receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2324 ; - skos:exactMatch HGNC_symbol:FLT4 ; + skos:exactMatch UMLS:C1333569, + UMLS:C1704423, + UMLS:C4016109, + UMLS:C5394062, + HGNC:3767, + HGNC_symbol:FLT4 ; biolink:category biolink:Gene . OMIM:136400 a owl:Class ; rdfs:label "focal epithelial hyperplasia of the oral mucosa" ; IAO:0000142 PMID:5259042 ; - oboInOwl:hasDbXref UMLS:C1851009 ; - oboInOwl:hasExactSynonym "focal epithelial hyperplasia of the oral mucosa" . + oboInOwl:hasExactSynonym "focal epithelial hyperplasia of the oral mucosa" ; + skos:exactMatch UMLS:C1851009 . OMIM:136425 a owl:Class ; rdfs:label "FOLR2" ; @@ -27715,14 +28346,15 @@ OMIM:136425 a owl:Class ; PMID:14711912, PMID:19587340, PMID:2605182 ; - oboInOwl:hasDbXref UMLS:C1414664 ; oboInOwl:hasExactSynonym "FOLR2", "folate receptor 2, fetal", "folate receptor, beta", "folate-binding protein, placental" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2350 ; - skos:exactMatch HGNC_symbol:FOLR2 ; + skos:exactMatch UMLS:C1414664, + HGNC:3793, + HGNC_symbol:FOLR2 ; biolink:category biolink:Gene . OMIM:136430 a owl:Class ; @@ -27746,8 +28378,6 @@ OMIM:136430 a owl:Class ; PMID:9545095 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:613068 ; - oboInOwl:hasDbXref UMLS:C1414662, - UMLS:C2751584 ; oboInOwl:hasExactSynonym "FOLR1", "folate receptor", "folate receptor 1, adult", @@ -27756,7 +28386,10 @@ OMIM:136430 a owl:Class ; "ovarian cancer-associated antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2348 ; - skos:exactMatch HGNC_symbol:FOLR1 ; + skos:exactMatch UMLS:C1414662, + UMLS:C2751584, + HGNC:3791, + HGNC_symbol:FOLR1 ; biolink:category biolink:Gene . OMIM:136435 a owl:Class ; @@ -27804,13 +28437,14 @@ OMIM:136435 a owl:Class ; PMID:9854118 ; RO:0002525 CHR:9606chr2p16.3 ; RO:0003303 OMIM:276400 ; - oboInOwl:hasDbXref UMLS:C1414828 ; oboInOwl:hasExactSynonym "FSHR", "follicle-stimulating hormone receptor", "fsh receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2492 ; - skos:exactMatch HGNC_symbol:FSHR ; + skos:exactMatch UMLS:C1414828, + HGNC:3969, + HGNC_symbol:FSHR ; biolink:category biolink:Gene . OMIM:136440 a owl:Class ; @@ -27820,14 +28454,15 @@ OMIM:136440 a owl:Class ; PMID:8417785 ; RO:0002525 CHR:9606chr18q21.33 ; RO:0003303 OMIM:617526 ; - oboInOwl:hasDbXref UMLS:C1333583 ; oboInOwl:hasExactSynonym "3-ketodihydrosphingosine reductase", "KDSR", "follicular lymphoma variant translocation 1", "follicular-variant-translocation gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2531 ; - skos:exactMatch HGNC_symbol:KDSR ; + skos:exactMatch UMLS:C1333583, + HGNC:4021, + HGNC_symbol:KDSR ; biolink:category biolink:Gene . OMIM:136470 a owl:Class ; @@ -27844,23 +28479,24 @@ OMIM:136470 a owl:Class ; PMID:3120188, PMID:31215115, PMID:7885475 ; - oboInOwl:hasDbXref UMLS:C1414830, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "FST", "follistatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10468 ; - skos:exactMatch HGNC_symbol:FST ; + skos:exactMatch UMLS:C1414830, + UMLS:C2986382, + HGNC:3971, + HGNC_symbol:FST ; biolink:category biolink:Gene . OMIM:136480 a owl:Class ; rdfs:label "fourth cranial nerve palsy, familial congenital" ; IAO:0000142 PMID:3985833 ; - oboInOwl:hasDbXref UMLS:C1850996 ; oboInOwl:hasExactSynonym "fourth cranial nerve palsy, familial congenital", "strabismus from superior oblique palsy", "superior oblique oculomotor palsy, familial congenital", - "trochlear nerve palsy, familial congenital" . + "trochlear nerve palsy, familial congenital" ; + skos:exactMatch UMLS:C1850996 . OMIM:136490 a owl:Class ; IAO:0100001 OMIM:103710 ; @@ -27875,13 +28511,13 @@ OMIM:136500 a owl:Class ; PMID:4697690, PMID:5089944, PMID:5173318 ; - oboInOwl:hasDbXref UMLS:C2936827 ; oboInOwl:hasExactSynonym "FFDD1", "bitemporal aplasia cutis congenita", "brauer syndrome", "focal facial dermal dysplasia 1, brauer iia", "hereditary symmetrical aplastic nevi of temples" ; rdfs:subClassOf OMIMPS:136500 ; + skos:exactMatch UMLS:C2936827 ; biolink:category biolink:Disease . OMIM:136510 a owl:Class ; @@ -27893,12 +28529,13 @@ OMIM:136510 a owl:Class ; PMID:6934068, PMID:7721888, PMID:8521387 ; - oboInOwl:hasDbXref UMLS:C1414689 ; oboInOwl:hasExactSynonym "FPGS", "folylpolyglutamate synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2356 ; - skos:exactMatch HGNC_symbol:FPGS ; + skos:exactMatch UMLS:C1414689, + HGNC:3824, + HGNC_symbol:FPGS ; biolink:category biolink:Gene . OMIM:136515 a owl:Class ; @@ -27907,14 +28544,15 @@ OMIM:136515 a owl:Class ; PMID:15229648, PMID:8276409, PMID:9819396 ; - oboInOwl:hasDbXref UMLS:C0812299 ; oboInOwl:hasExactSynonym "FOSL1", "fos-like 1, ap-1 transcription factor subunit", "fos-like antigen 1", "fos-related antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8061 ; - skos:exactMatch HGNC_symbol:FOSL1 ; + skos:exactMatch UMLS:C0812299, + HGNC:13718, + HGNC_symbol:FOSL1 ; biolink:category biolink:Gene . OMIM:136520 a owl:Class ; @@ -27927,11 +28565,11 @@ OMIM:136520 a owl:Class ; PMID:7065945, PMID:8640214, PMID:9931324 ; - oboInOwl:hasDbXref UMLS:C3805604 ; oboInOwl:hasExactSynonym "FVH1", "foveal hypoplasia 1", "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" ; rdfs:subClassOf OMIMPS:136520 ; + skos:exactMatch UMLS:C3805604 ; biolink:category biolink:Disease . OMIM:136530 a owl:Class ; @@ -27960,13 +28598,14 @@ OMIM:136530 a owl:Class ; PMID:9806482 ; RO:0002525 CHR:9606chr11p14.1 ; RO:0003303 OMIM:229070 ; - oboInOwl:hasDbXref UMLS:C1414824 ; oboInOwl:hasExactSynonym "FSHB", "follicle-stimulating hormone, beta polypeptide", "follitropin, beta chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2488 ; - skos:exactMatch HGNC_symbol:FSHB ; + skos:exactMatch UMLS:C1414824, + HGNC:3964, + HGNC_symbol:FSHB ; biolink:category biolink:Gene . OMIM:136533 a owl:Class ; @@ -28020,9 +28659,6 @@ OMIM:136533 a owl:Class ; PMID:9479491 ; RO:0002525 CHR:9606chr13q14.11 ; RO:0003303 OMIM:268220 ; - oboInOwl:hasDbXref UMLS:C1333572, - UMLS:C1847791, - UMLS:C1850988 ; oboInOwl:hasExactSynonym "FOXO1A", "fkhr/pax3 fusion gene", "fkhr/pax7 fusion gene", @@ -28032,7 +28668,11 @@ OMIM:136533 a owl:Class ; "foxo1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2308 ; - skos:exactMatch HGNC_symbol:FOXO1 ; + skos:exactMatch UMLS:C1333572, + UMLS:C1847791, + UMLS:C1850988, + HGNC:3819, + HGNC_symbol:FOXO1 ; biolink:category biolink:Gene . OMIM:136535 a owl:Class ; @@ -28050,14 +28690,15 @@ OMIM:136535 a owl:Class ; PMID:7851890, PMID:8516300, PMID:9119367 ; - oboInOwl:hasDbXref UMLS:C1539521 ; oboInOwl:hasExactSynonym "FMN1", "formin", "formin 1", "limb deformity, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342184 ; - skos:exactMatch HGNC_symbol:FMN1 ; + skos:exactMatch UMLS:C1539521, + HGNC:3768, + HGNC_symbol:FMN1 ; biolink:category biolink:Gene . OMIM:136537 a owl:Class ; @@ -28071,15 +28712,16 @@ OMIM:136537 a owl:Class ; PMID:26516201, PMID:31534221, PMID:8224916 ; - oboInOwl:hasDbXref UMLS:C1333574, - UMLS:C5394557 ; oboInOwl:hasExactSynonym "FPR1", "fmlp receptor", "formyl peptide receptor 1", "n-formylpeptide receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2357 ; - skos:exactMatch HGNC_symbol:FPR1 ; + skos:exactMatch UMLS:C1333574, + UMLS:C5394557, + HGNC:3826, + HGNC_symbol:FPR1 ; biolink:category biolink:Gene . OMIM:136538 a owl:Class ; @@ -28093,7 +28735,6 @@ OMIM:136538 a owl:Class ; PMID:19387439, PMID:24863484, PMID:9853614 ; - oboInOwl:hasDbXref UMLS:C1414691 ; oboInOwl:hasExactSynonym "FPR2", "formyl peptide receptor 2", "formyl peptide receptor homolog 1", @@ -28102,28 +28743,31 @@ OMIM:136538 a owl:Class ; "lipoxin a4 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2358 ; - skos:exactMatch HGNC_symbol:FPR2 ; + skos:exactMatch UMLS:C1414691, + HGNC:3827, + HGNC_symbol:FPR2 ; biolink:category biolink:Gene . OMIM:136539 a owl:Class ; rdfs:label "FPR3" ; IAO:0000142 PMID:15623572, PMID:1612600 ; - oboInOwl:hasDbXref UMLS:C1414692 ; oboInOwl:hasExactSynonym "FPR3", "formyl peptide receptor 3", "formyl peptide receptor homolog 2", "formyl peptide receptor-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2359 ; - skos:exactMatch HGNC_symbol:FPR3 ; + skos:exactMatch UMLS:C1414692, + HGNC:3828, + HGNC_symbol:FPR3 ; biolink:category biolink:Gene . OMIM:136540 a owl:Class ; rdfs:label "fragile site 10q23" ; IAO:0000142 PMID:7089572 ; - oboInOwl:hasDbXref UMLS:C1850987 ; oboInOwl:hasExactSynonym "fragile site 10q23" ; + skos:exactMatch UMLS:C1850987 ; biolink:category biolink:Disease . OMIM:136560 a owl:Class ; @@ -28136,12 +28780,12 @@ OMIM:136570 a owl:Class ; PMID:20729854, PMID:22970919 ; RO:0002525 CHR:9606chr16p12 ; - oboInOwl:hasDbXref UMLS:C1414725, - UMLS:C1850985, - UMLS:C3149276 ; oboInOwl:hasExactSynonym "chromosome 16p12.1 deletion syndrome, 520-kb", "fragile site 16p12", "fragile site, distamycin a type, rare, fra(16)(p12.1)" ; + skos:exactMatch UMLS:C1414725, + UMLS:C1850985, + UMLS:C3149276 ; biolink:category biolink:Disease . OMIM:136580 a owl:Class ; @@ -28164,23 +28808,23 @@ OMIM:136580 a owl:Class ; PMID:7959793, PMID:8009225, PMID:9039263 ; - oboInOwl:hasDbXref UMLS:C3890175 ; oboInOwl:hasExactSynonym "FRA16B", "fragile site 16q22", "fragile site, distamycin a type, rare, fra(16)(q22.1)" ; + skos:exactMatch UMLS:C3890175 ; biolink:category biolink:Disease . OMIM:136590 a owl:Class ; rdfs:label "fragile site 20p11" ; - oboInOwl:hasDbXref UMLS:C1850983 ; oboInOwl:hasExactSynonym "fragile site 20p11" ; + skos:exactMatch UMLS:C1850983 ; biolink:category biolink:Disease . OMIM:136600 a owl:Class ; rdfs:label "friedreich ataxia, so-called, with optic atrophy and sensorineural deafness" ; IAO:0000142 PMID:13545871 ; - oboInOwl:hasDbXref UMLS:C1850982 ; - oboInOwl:hasExactSynonym "friedreich ataxia, so-called, with optic atrophy and sensorineural deafness" . + oboInOwl:hasExactSynonym "friedreich ataxia, so-called, with optic atrophy and sensorineural deafness" ; + skos:exactMatch UMLS:C1850982 . OMIM:136610 a owl:Class ; IAO:0100001 OMIM:601464 ; @@ -28193,17 +28837,17 @@ OMIM:136620 a owl:Class ; PMID:7325157, PMID:7395866, PMID:7395874 ; - oboInOwl:hasDbXref UMLS:C1850980 ; oboInOwl:hasExactSynonym "FRA10B", "brdu-dependent fragile site", "fragile site 10q25" ; + skos:exactMatch UMLS:C1850980 ; biolink:category biolink:Disease . OMIM:136640 a owl:Class ; rdfs:label "fragile site 9q32" ; IAO:0000142 PMID:7081222 ; - oboInOwl:hasDbXref UMLS:C1850978 ; oboInOwl:hasExactSynonym "fragile site 9q32" ; + skos:exactMatch UMLS:C1850978 ; biolink:category biolink:Disease . OMIM:136650 a owl:Class ; @@ -28216,8 +28860,8 @@ OMIM:136660 a owl:Class ; PMID:453198, PMID:6510913, PMID:7129447 ; - oboInOwl:hasDbXref UMLS:C1850977 ; oboInOwl:hasExactSynonym "fragile site 17p12" ; + skos:exactMatch UMLS:C1850977 ; biolink:category biolink:Disease . OMIM:136670 a owl:Class ; @@ -28236,8 +28880,8 @@ OMIM:136680 a owl:Class ; PMID:8386697, PMID:9398852, PMID:9499425 ; - oboInOwl:hasDbXref UMLS:C0950122 ; oboInOwl:hasExactSynonym "frasier syndrome" ; + skos:exactMatch UMLS:C0950122 ; biolink:category biolink:Disease . OMIM:136750 a owl:Class ; @@ -28263,32 +28907,33 @@ OMIM:136800 a owl:Class ; PMID:24348007, PMID:26050543, PMID:399801 ; - oboInOwl:hasDbXref UMLS:C1850959 ; oboInOwl:hasExactSynonym "FECD1", "corneal dystrophy, fuchs endothelial, 1", "corneal dystrophy, fuchs endothelial, early-onset" ; rdfs:subClassOf OMIMPS:136800 ; + skos:exactMatch UMLS:C1850959 ; biolink:category biolink:Disease . OMIM:136830 a owl:Class ; rdfs:label "fucosidase regulator" ; IAO:0000142 PMID:231933, PMID:6490007 ; - oboInOwl:hasDbXref UMLS:C1850954 ; oboInOwl:hasExactSynonym "alpha-l-fucosidase regulator", - "fucosidase regulator" . + "fucosidase regulator" ; + skos:exactMatch UMLS:C1850954 . OMIM:136835 a owl:Class ; rdfs:label "FUT5" ; IAO:0000142 PMID:1740457, PMID:7782074 ; - oboInOwl:hasDbXref UMLS:C1414866 ; oboInOwl:hasExactSynonym "FUT5", "alpha-3-fucosyltransferase, plasma iia", "fucosyltransferase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2527 ; - skos:exactMatch HGNC_symbol:FUT5 ; + skos:exactMatch UMLS:C1414866, + HGNC:4016, + HGNC_symbol:FUT5 ; biolink:category biolink:Gene . OMIM:136836 a owl:Class ; @@ -28303,12 +28948,13 @@ OMIM:136836 a owl:Class ; PMID:8662894 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:613852 ; - oboInOwl:hasDbXref UMLS:C1414867 ; oboInOwl:hasExactSynonym "FUT6", "fucosyltransferase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2528 ; - skos:exactMatch HGNC_symbol:FUT6 ; + skos:exactMatch UMLS:C1414867, + HGNC:4017, + HGNC_symbol:FUT6 ; biolink:category biolink:Gene . OMIM:136840 a owl:Class ; @@ -28316,10 +28962,10 @@ OMIM:136840 a owl:Class ; IAO:0000142 PMID:3016318, PMID:6089336, PMID:6646236 ; - oboInOwl:hasDbXref UMLS:C1850952 ; oboInOwl:hasExactSynonym "FRV1", "full-length retroviral sequence 1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1850952 ; biolink:category biolink:Gene . OMIM:136850 a owl:Class ; @@ -28356,9 +29002,6 @@ OMIM:136850 a owl:Class ; PMID:975868 ; RO:0002525 CHR:9606chr1q43 ; RO:0003303 OMIM:150800 ; - oboInOwl:hasDbXref UMLS:C0342770, - UMLS:C1366530, - UMLS:C1708350 ; oboInOwl:hasExactSynonym "FH", "fumarase", "fumarate hydratase", @@ -28366,25 +29009,29 @@ OMIM:136850 a owl:Class ; "fumarate hydratase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2271 ; - skos:exactMatch HGNC_symbol:FH ; + skos:exactMatch UMLS:C0342770, + UMLS:C1366530, + UMLS:C1708350, + HGNC:3700, + HGNC_symbol:FH ; biolink:category biolink:Gene . OMIM:136870 a owl:Class ; rdfs:label "FRV2" ; IAO:0000142 PMID:3016318 ; - oboInOwl:hasDbXref UMLS:C1850940 ; oboInOwl:hasExactSynonym "FRV2", "full-length retroviral sequence 2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1850940 ; biolink:category biolink:Gene . OMIM:136890 a owl:Class ; rdfs:label "FRV3" ; IAO:0000142 PMID:3016318 ; - oboInOwl:hasDbXref UMLS:C1850939 ; oboInOwl:hasExactSynonym "FRV3", "full-length retroviral sequence 3" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1850939 ; biolink:category biolink:Gene . OMIM:136950 a owl:Class ; @@ -28399,7 +29046,6 @@ OMIM:136950 a owl:Class ; PMID:7737999, PMID:7782070, PMID:9109442 ; - oboInOwl:hasDbXref UMLS:C0919550 ; oboInOwl:hasExactSynonym "FURIN", "furin, paired basic amino acid cleaving enzyme", "paired basic amino acid cleaving enzyme", @@ -28407,25 +29053,27 @@ OMIM:136950 a owl:Class ; "spc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5045 ; - skos:exactMatch HGNC_symbol:FURIN ; + skos:exactMatch UMLS:C0919550, + HGNC:8568, + HGNC_symbol:FURIN ; biolink:category biolink:Gene . OMIM:137000 a owl:Class ; rdfs:label "futcher line" ; IAO:0000142 PMID:1201189, PMID:17811460 ; - oboInOwl:hasDbXref UMLS:C1850937 ; - oboInOwl:hasExactSynonym "futcher line" . + oboInOwl:hasExactSynonym "futcher line" ; + skos:exactMatch UMLS:C1850937 . OMIM:137010 a owl:Class ; rdfs:label "FEA" ; IAO:0000142 PMID:4522792, PMID:4546143 ; - oboInOwl:hasDbXref UMLS:C1850936 ; oboInOwl:hasExactSynonym "FEA", "f9 embryonic antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7959 ; + skos:exactMatch UMLS:C1850936 ; biolink:category biolink:Gene . OMIM:137020 a owl:Class ; @@ -28435,7 +29083,6 @@ OMIM:137020 a owl:Class ; PMID:7448421, PMID:8910301, PMID:9525924 ; - oboInOwl:hasDbXref UMLS:C1421211 ; oboInOwl:hasExactSynonym "GFUS", "fx", "gdp-keto-6-deoxymannose 3,5-epimerase, 4-reductase", @@ -28444,7 +29091,9 @@ OMIM:137020 a owl:Class ; "tissue-specific transplantation antigen 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7264 ; - skos:exactMatch HGNC_symbol:GFUS ; + skos:exactMatch UMLS:C1421211, + HGNC:12390, + HGNC_symbol:GFUS ; biolink:category biolink:Gene . OMIM:137025 a owl:Class ; @@ -28464,7 +29113,6 @@ OMIM:137025 a owl:Class ; PMID:3526330, PMID:8264796, PMID:8777897 ; - oboInOwl:hasDbXref UMLS:C0812303 ; oboInOwl:hasExactSynonym "FYN", "fyn oncogene related to src, fgr, yes", "fyn protooncogene, src family tyrosine kinase", @@ -28473,7 +29121,9 @@ OMIM:137025 a owl:Class ; "syn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2534 ; - skos:exactMatch HGNC_symbol:FYN ; + skos:exactMatch UMLS:C0812303, + HGNC:4037, + HGNC_symbol:FYN ; biolink:category biolink:Gene . OMIM:137026 a owl:Class ; @@ -28484,27 +29134,29 @@ OMIM:137026 a owl:Class ; PMID:7919654, PMID:8626439, PMID:9092566 ; - oboInOwl:hasDbXref UMLS:C1333698 ; oboInOwl:hasExactSynonym "GRK4", "g protein-coupled receptor kinase 2-like", "g protein-coupled receptor kinase 4", "gprk4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2868 ; - skos:exactMatch HGNC_symbol:GRK4 ; + skos:exactMatch UMLS:C1333698, + HGNC:4543, + HGNC_symbol:GRK4 ; biolink:category biolink:Gene . OMIM:137028 a owl:Class ; rdfs:label "GALK2" ; IAO:0000142 PMID:1438294, PMID:8798585 ; - oboInOwl:hasDbXref UMLS:C1414949 ; oboInOwl:hasExactSynonym "GALK2", "galactokinase 2", "gk2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2585 ; - skos:exactMatch HGNC_symbol:GALK2 ; + skos:exactMatch UMLS:C1414949, + HGNC:4119, + HGNC_symbol:GALK2 ; biolink:category biolink:Gene . OMIM:137033 a owl:Class ; @@ -28539,13 +29191,14 @@ OMIM:137035 a owl:Class ; PMID:9770544 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:616461 ; - oboInOwl:hasDbXref UMLS:C1414945 ; oboInOwl:hasExactSynonym "GAL", "galanin", "galn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51083 ; - skos:exactMatch HGNC_symbol:GAL ; + skos:exactMatch UMLS:C1414945, + HGNC:4114, + HGNC_symbol:GAL ; biolink:category biolink:Gene . OMIM:137040 a owl:Class ; @@ -28554,16 +29207,16 @@ OMIM:137040 a owl:Class ; PMID:3510477, PMID:5058613, PMID:850820 ; - oboInOwl:hasDbXref UMLS:C0266251 ; - oboInOwl:hasExactSynonym "gallbladder, agenesis of" . + oboInOwl:hasExactSynonym "gallbladder, agenesis of" ; + skos:exactMatch UMLS:C0266251 . OMIM:137050 a owl:Class ; rdfs:label "gamma-a-globulin, defect 1n assembly of" ; IAO:0000142 PMID:5129320 ; - oboInOwl:hasDbXref UMLS:C1850934 ; oboInOwl:hasExactSynonym "gamma-a-globulin, defect 1n assembly of", "iga, defect 1n assembly of", - "immunoglobulin a, defect 1n assembly of" . + "immunoglobulin a, defect 1n assembly of" ; + skos:exactMatch UMLS:C1850934 . OMIM:137061 a owl:Class ; IAO:0100001 OMIM:137060 ; @@ -28612,11 +29265,6 @@ OMIM:137070 a owl:Class ; PMID:9795213 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:614782 ; - oboInOwl:hasDbXref UMLS:C1414860, - UMLS:C1842675, - UMLS:C2750729, - UMLS:C3539195, - UMLS:C4016110 ; oboInOwl:hasExactSynonym "FUS", "fus/atf1 fusion gene", "fus/chop fusion gene", @@ -28627,7 +29275,13 @@ OMIM:137070 a owl:Class ; "translocated 1n liposarcoma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2521 ; - skos:exactMatch HGNC_symbol:FUS ; + skos:exactMatch UMLS:C1414860, + UMLS:C1842675, + UMLS:C2750729, + UMLS:C3539195, + UMLS:C4016110, + HGNC:4010, + HGNC_symbol:FUS ; biolink:category biolink:Gene . OMIM:137130 a owl:Class ; @@ -28636,9 +29290,9 @@ OMIM:137130 a owl:Class ; PMID:2325110, PMID:2769729, PMID:5526409 ; - oboInOwl:hasDbXref UMLS:C1850930 ; oboInOwl:hasExactSynonym "gastric sneezing", - "stomach sneeze reflex" . + "stomach sneeze reflex" ; + skos:exactMatch UMLS:C1850930 . OMIM:137140 a owl:Class ; rdfs:label "GABRA2" ; @@ -28656,15 +29310,16 @@ OMIM:137140 a owl:Class ; PMID:8391122 ; RO:0002525 CHR:9606chr4p12 ; RO:0003303 OMIM:103780 ; - oboInOwl:hasDbXref UMLS:C1414909, - UMLS:C4016111, - UMLS:C5231409 ; oboInOwl:hasExactSynonym "GABRA2", "gaba-a receptor, alpha-2 polypeptide", "gamma-aminobutyric acid receptor, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2555 ; - skos:exactMatch HGNC_symbol:GABRA2 ; + skos:exactMatch UMLS:C1414909, + UMLS:C4016111, + UMLS:C5231409, + HGNC:4076, + HGNC_symbol:GABRA2 ; biolink:category biolink:Gene . OMIM:137141 a owl:Class ; @@ -28679,13 +29334,14 @@ OMIM:137141 a owl:Class ; PMID:7607683, PMID:8390964, PMID:8719416 ; - oboInOwl:hasDbXref UMLS:C1414911 ; oboInOwl:hasExactSynonym "GABRA4", "gaba-a receptor, alpha-4 polypeptide", "gamma-aminobutyric acid receptor, alpha-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2557 ; - skos:exactMatch HGNC_symbol:GABRA4 ; + skos:exactMatch UMLS:C1414911, + HGNC:4078, + HGNC_symbol:GABRA4 ; biolink:category biolink:Gene . OMIM:137142 a owl:Class ; @@ -28702,14 +29358,15 @@ OMIM:137142 a owl:Class ; PMID:9668167 ; RO:0002525 CHR:9606chr15q12 ; RO:0003303 OMIM:618559 ; - oboInOwl:hasDbXref UMLS:C1414912, - UMLS:C5231410 ; oboInOwl:hasExactSynonym "GABRA5", "gaba-a receptor, alpha-5 polypeptide", "gamma-aminobutyric acid receptor, alpha-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2558 ; - skos:exactMatch HGNC_symbol:GABRA5 ; + skos:exactMatch UMLS:C1414912, + UMLS:C5231410, + HGNC:4079, + HGNC_symbol:GABRA5 ; biolink:category biolink:Gene . OMIM:137143 a owl:Class ; @@ -28720,13 +29377,14 @@ OMIM:137143 a owl:Class ; PMID:7678923, PMID:8020978, PMID:9006978 ; - oboInOwl:hasDbXref UMLS:C1414913 ; oboInOwl:hasExactSynonym "GABRA6", "gaba-a receptor, alpha-6 polypeptide", "gamma-aminobutyric acid receptor, alpha-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2559 ; - skos:exactMatch HGNC_symbol:GABRA6 ; + skos:exactMatch UMLS:C1414913, + HGNC:4080, + HGNC_symbol:GABRA6 ; biolink:category biolink:Gene . OMIM:137150 a owl:Class ; @@ -28741,7 +29399,6 @@ OMIM:137150 a owl:Class ; PMID:7721088 ; RO:0002525 CHR:9606chr16p13.2 ; RO:0003303 OMIM:613163 ; - oboInOwl:hasDbXref UMLS:C1412057 ; oboInOwl:hasExactSynonym "4-aminobutyrate aminotransferase", "ABAT", "gaba-transaminase", @@ -28749,7 +29406,9 @@ OMIM:137150 a owl:Class ; "gamma-aminobutyrate transaminase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:18 ; - skos:exactMatch HGNC_symbol:ABAT ; + skos:exactMatch UMLS:C1412057, + HGNC:23, + HGNC_symbol:ABAT ; biolink:category biolink:Gene . OMIM:137160 a owl:Class ; @@ -28778,42 +29437,45 @@ OMIM:137160 a owl:Class ; PMID:9126483 ; RO:0002525 CHR:9606chr5q34 ; RO:0003303 OMIM:611136 ; - oboInOwl:hasDbXref UMLS:C1414908, - UMLS:C1970160, - UMLS:C2749942, - UMLS:C3810400, - UMLS:C4013473 ; oboInOwl:hasExactSynonym "GABRA1", "gaba-a receptor, alpha-1 polypeptide", "gamma-aminobutyric acid receptor, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2554 ; - skos:exactMatch HGNC_symbol:GABRA1 ; + skos:exactMatch UMLS:C1414908, + UMLS:C1970160, + UMLS:C2749942, + UMLS:C3810400, + UMLS:C4013473, + HGNC:4075, + HGNC_symbol:GABRA1 ; biolink:category biolink:Gene . OMIM:137161 a owl:Class ; rdfs:label "GABRR1" ; IAO:0000142 PMID:1315307, PMID:1849271 ; - oboInOwl:hasDbXref UMLS:C1414923 ; oboInOwl:hasExactSynonym "GABRR1", "gaba-c receptor, rho-1 subunit", "gamma-aminobutyric acid receptor, rho-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2569 ; - skos:exactMatch HGNC_symbol:GABRR1 ; + skos:exactMatch UMLS:C1414923, + HGNC:4090, + HGNC_symbol:GABRR1 ; biolink:category biolink:Gene . OMIM:137162 a owl:Class ; rdfs:label "GABRR2" ; IAO:0000142 PMID:1315307 ; - oboInOwl:hasDbXref UMLS:C1414924 ; oboInOwl:hasExactSynonym "GABRR2", "gaba-c receptor, rho-2 subunit", "gamma-aminobutyric acid receptor, rho-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2570 ; - skos:exactMatch HGNC_symbol:GABRR2 ; + skos:exactMatch UMLS:C1414924, + HGNC:4091, + HGNC_symbol:GABRR2 ; biolink:category biolink:Gene . OMIM:137163 a owl:Class ; @@ -28835,16 +29497,17 @@ OMIM:137163 a owl:Class ; PMID:9006978 ; RO:0002525 CHR:9606chr1p36.33 ; RO:0003303 OMIM:613060 ; - oboInOwl:hasDbXref UMLS:C1414917, - UMLS:C2751603, - UMLS:C2751604, - UMLS:C3150399 ; oboInOwl:hasExactSynonym "GABRD", "gaba-a receptor, delta polypeptide", "gamma-aminobutyric acid receptor, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2563 ; - skos:exactMatch HGNC_symbol:GABRD ; + skos:exactMatch UMLS:C1414917, + UMLS:C2751603, + UMLS:C2751604, + UMLS:C3150399, + HGNC:4084, + HGNC_symbol:GABRD ; biolink:category biolink:Gene . OMIM:137164 a owl:Class ; @@ -28880,17 +29543,18 @@ OMIM:137164 a owl:Class ; PMID:9894880 ; RO:0002525 CHR:9606chr5q34 ; RO:0003303 OMIM:607681 ; - oboInOwl:hasDbXref UMLS:C1414920, - UMLS:C1858674, - UMLS:C1969810, - UMLS:C2986382, - UMLS:C5193074 ; oboInOwl:hasExactSynonym "GABRG2", "gaba-a receptor, gamma-2 polypeptide", "gamma-aminobutyric acid receptor, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2566 ; - skos:exactMatch HGNC_symbol:GABRG2 ; + skos:exactMatch UMLS:C1414920, + UMLS:C1858674, + UMLS:C1969810, + UMLS:C2986382, + UMLS:C5193074, + HGNC:4087, + HGNC_symbol:GABRG2 ; biolink:category biolink:Gene . OMIM:137165 a owl:Class ; @@ -28905,8 +29569,6 @@ OMIM:137165 a owl:Class ; PMID:8530094 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:616421 ; - oboInOwl:hasDbXref UMLS:C1420206, - UMLS:C4085238 ; oboInOwl:hasExactSynonym "SLC6A1", "gaba transporter", "gabathg", @@ -28914,20 +29576,24 @@ OMIM:137165 a owl:Class ; "solute carrier family 6 (neurotransmitter transporter, gaba), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6529 ; - skos:exactMatch HGNC_symbol:SLC6A1 ; + skos:exactMatch UMLS:C1420206, + UMLS:C4085238, + HGNC:11042, + HGNC_symbol:SLC6A1 ; biolink:category biolink:Gene . OMIM:137166 a owl:Class ; rdfs:label "GABRG1" ; IAO:0000142 PMID:10414349, PMID:1321425 ; - oboInOwl:hasDbXref UMLS:C1414919 ; oboInOwl:hasExactSynonym "GABRG1", "gaba-a receptor, gamma-1 polypeptide", "gamma-aminobutyric acid receptor, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2565 ; - skos:exactMatch HGNC_symbol:GABRG1 ; + skos:exactMatch UMLS:C1414919, + HGNC:4086, + HGNC_symbol:GABRG1 ; biolink:category biolink:Gene . OMIM:137167 a owl:Class ; @@ -28947,12 +29613,13 @@ OMIM:137167 a owl:Class ; PMID:9845520 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:277450 ; - oboInOwl:hasDbXref UMLS:C1415050 ; oboInOwl:hasExactSynonym "GGCX", "gamma-glutamyl carboxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2677 ; - skos:exactMatch HGNC_symbol:GGCX ; + skos:exactMatch UMLS:C1415050, + HGNC:4247, + HGNC_symbol:GGCX ; biolink:category biolink:Gene . OMIM:137168 a owl:Class ; @@ -28962,7 +29629,6 @@ OMIM:137168 a owl:Class ; PMID:18357469, PMID:21447318, PMID:30842656 ; - oboInOwl:hasDbXref UMLS:C1415061 ; oboInOwl:hasExactSynonym "GGT5", "gamma-glutamyl cleaving enzyme", "gamma-glutamyl leukotrienase", @@ -28971,14 +29637,15 @@ OMIM:137168 a owl:Class ; "gamma-glutamyltransferase-like activity 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2687 ; - skos:exactMatch HGNC_symbol:GGT5 ; + skos:exactMatch UMLS:C1415061, + HGNC:4260, + HGNC_symbol:GGT5 ; biolink:category biolink:Gene . OMIM:137170 a owl:Class ; rdfs:label "GGCT" ; IAO:0000142 PMID:16765912, PMID:18515354 ; - oboInOwl:hasDbXref UMLS:C1415027 ; oboInOwl:hasExactSynonym "GGCT", "chromosome 7 open reading frame 24", "cytochrome c-releasing factor, 21-kd", @@ -28986,7 +29653,9 @@ OMIM:137170 a owl:Class ; "glutamylcyclotransferase, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79017 ; - skos:exactMatch HGNC_symbol:GGCT ; + skos:exactMatch UMLS:C1415027, + HGNC:21705, + HGNC_symbol:GGCT ; biolink:category biolink:Gene . OMIM:137181 a owl:Class ; @@ -28998,11 +29667,13 @@ OMIM:137181 a owl:Class ; PMID:7906515, PMID:8104871 ; RO:0002525 CHR:9606chr22q11.21 ; - oboInOwl:hasDbXref UMLS:C1415054 ; oboInOwl:hasExactSynonym "GGT2", "gamma-glutamyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728441 ; + skos:exactMatch UMLS:C1415054, + HGNC:4251, + HGNC_symbol:GGT2P ; biolink:category biolink:Gene . OMIM:137190 a owl:Class ; @@ -29019,14 +29690,15 @@ OMIM:137190 a owl:Class ; PMID:8390964 ; RO:0002525 CHR:9606chr4p12 ; RO:0003303 OMIM:617153 ; - oboInOwl:hasDbXref UMLS:C1414914, - UMLS:C4310691 ; oboInOwl:hasExactSynonym "GABRB1", "gaba-a receptor, beta-1 polypeptide", "gamma-aminobutyric acid receptor, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2560 ; - skos:exactMatch HGNC_symbol:GABRB1 ; + skos:exactMatch UMLS:C1414914, + UMLS:C4310691, + HGNC:4081, + HGNC_symbol:GABRB1 ; biolink:category biolink:Gene . OMIM:137192 a owl:Class ; @@ -29061,16 +29733,17 @@ OMIM:137192 a owl:Class ; PMID:9328477 ; RO:0002525 CHR:9606chr15q12 ; RO:0003303 OMIM:612269 ; - oboInOwl:hasDbXref UMLS:C1414916, - UMLS:C2677087, - UMLS:C4015968, - UMLS:C4310712 ; oboInOwl:hasExactSynonym "GABRB3", "gaba-a receptor, beta-3 polypeptide", "gamma-aminobutyric acid receptor, beta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2562 ; - skos:exactMatch HGNC_symbol:GABRB3 ; + skos:exactMatch UMLS:C1414916, + UMLS:C2677087, + UMLS:C4015968, + UMLS:C4310712, + HGNC:4083, + HGNC_symbol:GABRB3 ; biolink:category biolink:Gene . OMIM:137207 a owl:Class ; @@ -29084,22 +29757,23 @@ OMIM:137207 a owl:Class ; PMID:8180135 ; RO:0002525 CHR:9606chr11q13.5 ; RO:0003303 OMIM:619074 ; - oboInOwl:hasDbXref UMLS:C1537607, - UMLS:C5436739 ; oboInOwl:hasExactSynonym "LRRC32", "d11s833e", "glycoprotein a repetitions predominant", "leucine-rich repeat-containing protein 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2615 ; - skos:exactMatch HGNC_symbol:LRRC32 ; + skos:exactMatch UMLS:C1537607, + UMLS:C5436739, + HGNC:4161, + HGNC_symbol:LRRC32 ; biolink:category biolink:Gene . OMIM:137210 a owl:Class ; rdfs:label "gastric volvulus, intrathoracic" ; IAO:0000142 PMID:3180985 ; - oboInOwl:hasDbXref UMLS:C1850902 ; - oboInOwl:hasExactSynonym "gastric volvulus, intrathoracic" . + oboInOwl:hasExactSynonym "gastric volvulus, intrathoracic" ; + skos:exactMatch UMLS:C1850902 . OMIM:137215 a owl:Class ; rdfs:label "diffuse gastric and lobular breast cancer syndrome" ; @@ -29124,28 +29798,29 @@ OMIM:137215 a owl:Class ; PMID:7479380, PMID:9537325, PMID:9751616 ; - oboInOwl:hasDbXref UMLS:C1708349, - UMLS:C3149287, - UMLS:C3549742 ; oboInOwl:hasExactSynonym "DGLBC", "diffuse gastric and lobular breast cancer syndrome", "diffuse gastric and lobular breast cancer syndrome with cleft 51p and with or without cleft palate", "gastric cancer, familial diffuse breast cancer, lobular", "gastric cancer, hereditary diffuse" ; + skos:exactMatch UMLS:C1708349, + UMLS:C3149287, + UMLS:C3549742 ; biolink:category biolink:Disease . OMIM:137216 a owl:Class ; rdfs:label "ATP4A" ; IAO:0000142 PMID:1330887, PMID:2160952 ; - oboInOwl:hasDbXref UMLS:C1412645 ; oboInOwl:hasExactSynonym "ATP4A", "atp6a, formerly", "atpase, h+,k+ exchanging, alpha subunit", "gastric hydrogen-potassium atpase, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:495 ; - skos:exactMatch HGNC_symbol:ATP4A ; + skos:exactMatch UMLS:C1412645, + HGNC:819, + HGNC_symbol:ATP4A ; biolink:category biolink:Gene . OMIM:137217 a owl:Class ; @@ -29154,20 +29829,21 @@ OMIM:137217 a owl:Class ; PMID:1974721, PMID:1978834, PMID:2168558 ; - oboInOwl:hasDbXref UMLS:C1412646 ; oboInOwl:hasExactSynonym "ATP4B", "atpase, h+,k+ exchanging, beta polypeptide", "gastric hydrogen-potassium atpase, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:496 ; - skos:exactMatch HGNC_symbol:ATP4B ; + skos:exactMatch UMLS:C1412646, + HGNC:820, + HGNC_symbol:ATP4B ; biolink:category biolink:Gene . OMIM:137220 a owl:Class ; rdfs:label "gastric juice peptides" ; IAO:0000142 PMID:5538385 ; - oboInOwl:hasDbXref UMLS:C1850901 ; - oboInOwl:hasExactSynonym "gastric juice peptides" . + oboInOwl:hasExactSynonym "gastric juice peptides" ; + skos:exactMatch UMLS:C1850901 . OMIM:137240 a owl:Class ; rdfs:label "GIP" ; @@ -29177,13 +29853,14 @@ OMIM:137240 a owl:Class ; PMID:8188305, PMID:8244378, PMID:8986815 ; - oboInOwl:hasDbXref UMLS:C1415067 ; oboInOwl:hasExactSynonym "GIP", "gastric inhibitory polypeptide", "glucose-dependent insulinotropic polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2695 ; - skos:exactMatch HGNC_symbol:GIP ; + skos:exactMatch UMLS:C1415067, + HGNC:4270, + HGNC_symbol:GIP ; biolink:category biolink:Gene . OMIM:137241 a owl:Class ; @@ -29198,13 +29875,14 @@ OMIM:137241 a owl:Class ; PMID:7589426, PMID:8243312, PMID:8575774 ; - oboInOwl:hasDbXref UMLS:C1333675 ; oboInOwl:hasExactSynonym "GIPR", "gastric inhibitory polypeptide receptor", "insulinotropic polypeptide receptor, glucose-dependent" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2696 ; - skos:exactMatch HGNC_symbol:GIPR ; + skos:exactMatch UMLS:C1333675, + HGNC:4271, + HGNC_symbol:GIPR ; biolink:category biolink:Gene . OMIM:137245 a owl:Class ; @@ -29213,10 +29891,10 @@ OMIM:137245 a owl:Class ; PMID:7629280, PMID:8432445, PMID:9989495 ; - oboInOwl:hasDbXref UMLS:C1850900 ; oboInOwl:hasExactSynonym "gastric lymphoma, primary", "lymphoma, mucosa-associated lymphoid iia", "malt lymphoma" ; + skos:exactMatch UMLS:C1850900 ; biolink:category biolink:Disease . OMIM:137250 a owl:Class ; @@ -29237,13 +29915,14 @@ OMIM:137250 a owl:Class ; PMID:8364555, PMID:8647266, PMID:9797370 ; - oboInOwl:hasDbXref UMLS:C1439341 ; oboInOwl:hasExactSynonym "GAST", "gas", "gastrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2520 ; - skos:exactMatch HGNC_symbol:GAST ; + skos:exactMatch UMLS:C1439341, + HGNC:4164, + HGNC_symbol:GAST ; biolink:category biolink:Gene . OMIM:137260 a owl:Class ; @@ -29258,22 +29937,23 @@ OMIM:137260 a owl:Class ; PMID:3027901, PMID:3027902, PMID:6207529 ; - oboInOwl:hasDbXref UMLS:C1333714 ; oboInOwl:hasExactSynonym "GRP", "bombesin", "gastrin-releasing peptide", "gastrin-releasing polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2922 ; - skos:exactMatch HGNC_symbol:GRP ; + skos:exactMatch UMLS:C1333714, + HGNC:4605, + HGNC_symbol:GRP ; biolink:category biolink:Gene . OMIM:137270 a owl:Class ; rdfs:label "gastrocutaneous syndrome" ; IAO:0000142 PMID:7065007 ; - oboInOwl:hasDbXref UMLS:C1850899 ; oboInOwl:hasExactSynonym "gastrocutaneous syndrome", - "peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia" . + "peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia" ; + skos:exactMatch UMLS:C1850899 . OMIM:137280 a owl:Class ; rdfs:label "gastritis, familial giant hypertrophic" ; @@ -29282,11 +29962,11 @@ OMIM:137280 a owl:Class ; PMID:6825994, PMID:8043871, PMID:8123171 ; - oboInOwl:hasDbXref UMLS:C0017155, - UMLS:C2936660, - ORPHA:2494 ; oboInOwl:hasExactSynonym "gastritis, familial giant hypertrophic", - "menetrier disease" . + "menetrier disease" ; + skos:exactMatch UMLS:C0017155, + UMLS:C2936660, + ORPHA:2494 . OMIM:137290 a owl:Class ; rdfs:label "TACSTD2" ; @@ -29300,7 +29980,6 @@ OMIM:137290 a owl:Class ; PMID:8382772 ; RO:0002525 CHR:9606chr1p32.1 ; RO:0003303 OMIM:204870 ; - oboInOwl:hasDbXref UMLS:C0920274 ; oboInOwl:hasExactSynonym "TACSTD2", "ga733", "gastrointestinal tumor-associated antigen 1, 40-kd glycoprotein", @@ -29308,7 +29987,9 @@ OMIM:137290 a owl:Class ; "tumor-associated calcium signal transducer 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4070 ; - skos:exactMatch HGNC_symbol:TACSTD2 ; + skos:exactMatch UMLS:C0920274, + HGNC:11530, + HGNC_symbol:TACSTD2 ; biolink:category biolink:Gene . OMIM:137295 a owl:Class ; @@ -29341,12 +30022,13 @@ OMIM:137295 a owl:Class ; PMID:9822612 ; RO:0002525 CHR:9606chr3q21.3 ; RO:0003303 OMIM:614286 ; - oboInOwl:hasDbXref UMLS:C1414993 ; oboInOwl:hasExactSynonym "GATA2", "gata-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2624 ; - skos:exactMatch HGNC_symbol:GATA2 ; + skos:exactMatch UMLS:C1414993, + HGNC:4171, + HGNC_symbol:GATA2 ; biolink:category biolink:Gene . OMIM:137350 a owl:Class ; @@ -29388,12 +30070,13 @@ OMIM:137350 a owl:Class ; PMID:9671712 ; RO:0002525 CHR:9606chr9q33.2 ; RO:0003303 OMIM:105120 ; - oboInOwl:hasDbXref UMLS:C1415323 ; oboInOwl:hasExactSynonym "GSN", "gelsolin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2934 ; - skos:exactMatch HGNC_symbol:GSN ; + skos:exactMatch UMLS:C1415323, + HGNC:4620, + HGNC_symbol:GSN ; biolink:category biolink:Gene . OMIM:137357 a owl:Class ; @@ -29406,35 +30089,35 @@ OMIM:137360 a owl:Class ; PMID:17632779, PMID:1895320, PMID:9916834 ; - oboInOwl:hasDbXref UMLS:C1300229 ; oboInOwl:hasExactSynonym "genochondromatosis" ; + skos:exactMatch UMLS:C1300229 ; biolink:category biolink:Disease . OMIM:137370 a owl:Class ; rdfs:label "genu valgum, st. helena familial" ; IAO:0000142 PMID:3791678, PMID:8062437 ; - oboInOwl:hasDbXref UMLS:C1842052 ; oboInOwl:hasExactSynonym "genu valgum, hereditary pubertal", - "genu valgum, st. helena familial" . + "genu valgum, st. helena familial" ; + skos:exactMatch UMLS:C1842052 . OMIM:137400 a owl:Class ; rdfs:label "geographic and fissured tongue" ; IAO:0000142 PMID:21005895, PMID:3166201, PMID:6064938 ; - oboInOwl:hasDbXref UMLS:C0017677, - UMLS:C0040412, - UMLS:C4540616 ; oboInOwl:hasExactSynonym "geographic and fissured tongue", "glossitis, benign migratory", "lingua plicata", - "scrotal tongue" . + "scrotal tongue" ; + skos:exactMatch UMLS:C0017677, + UMLS:C0040412, + UMLS:C4540616 . OMIM:137500 a owl:Class ; rdfs:label "giant neutrophil leukocytes" ; - oboInOwl:hasDbXref UMLS:C1842039 ; oboInOwl:hasExactSynonym "giant neutrophil leukocytes" ; + skos:exactMatch UMLS:C1842039 ; biolink:category biolink:Disease . OMIM:137550 a owl:Class ; @@ -29454,9 +30137,6 @@ OMIM:137550 a owl:Class ; PMID:7213564, PMID:7258230, PMID:8330286 ; - oboInOwl:hasDbXref UMLS:C0206739, - UMLS:C0346099, - UMLS:C1842036 ; oboInOwl:hasExactSynonym "CMNS", "giant congenital pigmented nevus", "giant pigmented hairy nevus", @@ -29464,6 +30144,9 @@ OMIM:137550 a owl:Class ; "nevus spilus", "pigmented moles", "spitz nevus" ; + skos:exactMatch UMLS:C0206739, + UMLS:C0346099, + UMLS:C1842036 ; biolink:category biolink:Disease . OMIM:137560 a owl:Class ; @@ -29478,14 +30161,15 @@ OMIM:137570 a owl:Class ; PMID:32850778, PMID:8041748, PMID:9889306 ; - oboInOwl:hasDbXref UMLS:C1456395 ; oboInOwl:hasExactSynonym "SLC20A1", "gibbon ape leukemia virus receptor 1", "phosphate transporter 1", "solute carrier family 20 (phosphate transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6574 ; - skos:exactMatch HGNC_symbol:SLC20A1 ; + skos:exactMatch UMLS:C1456395, + HGNC:10946, + HGNC_symbol:SLC20A1 ; biolink:category biolink:Gene . OMIM:137575 a owl:Class ; @@ -29495,11 +30179,11 @@ OMIM:137575 a owl:Class ; PMID:2594322, PMID:6927901, PMID:8236819 ; - oboInOwl:hasDbXref UMLS:C3495361 ; oboInOwl:hasExactSynonym "FGC", "cemental dysplasia, periapical", "cementomas, familial multiple", "gigantiform cementoma, familial" ; + skos:exactMatch UMLS:C3495361 ; biolink:category biolink:Disease . OMIM:137600 a owl:Class ; @@ -29515,20 +30199,20 @@ OMIM:137600 a owl:Class ; PMID:8940278, PMID:9437321, PMID:9618168 ; - oboInOwl:hasDbXref UMLS:C1842031 ; oboInOwl:hasExactSynonym "ASGD4", "anterior segment dysgenesis 4", "iridogoniodysgenesis syndrome", "iridogoniodysgenesis, iia 2", "iris hypoplasia with early-onset glaucoma, autosomal dominant" ; rdfs:subClassOf OMIMPS:107250 ; + skos:exactMatch UMLS:C1842031 ; biolink:category biolink:Disease . OMIM:137700 a owl:Class ; rdfs:label "glaucoma with elevated episcleral venous pressure" ; IAO:0000142 PMID:5661886 ; - oboInOwl:hasDbXref UMLS:C1842030 ; - oboInOwl:hasExactSynonym "glaucoma with elevated episcleral venous pressure" . + oboInOwl:hasExactSynonym "glaucoma with elevated episcleral venous pressure" ; + skos:exactMatch UMLS:C1842030 . OMIM:137760 a owl:Class ; rdfs:label "glaucoma, primary open angle" ; @@ -29571,19 +30255,19 @@ OMIM:137760 a owl:Class ; PMID:9300658, PMID:9497264, PMID:9748694 ; - oboInOwl:hasDbXref UMLS:C0339573, - UMLS:C1842026 ; oboInOwl:hasExactSynonym "POAG", "glaucoma 1, open angle, e", "glaucoma, primary open angle", "glaucoma, primary open angle, adult-onset" ; + skos:exactMatch UMLS:C0339573, + UMLS:C1842026 ; biolink:category biolink:Disease . OMIM:137763 a owl:Class ; rdfs:label "glaucoma and sleep apnea" ; IAO:0000142 PMID:7164003 ; - oboInOwl:hasDbXref UMLS:C1842025 ; - oboInOwl:hasExactSynonym "glaucoma and sleep apnea" . + oboInOwl:hasExactSynonym "glaucoma and sleep apnea" ; + skos:exactMatch UMLS:C1842025 . OMIM:137765 a owl:Class ; IAO:0100001 OMIM:608328 ; @@ -29624,19 +30308,20 @@ OMIM:137780 a owl:Class ; PMID:9466565 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:203450 ; - oboInOwl:hasDbXref UMLS:C1415042 ; oboInOwl:hasExactSynonym "GFAP", "glial fibrillary acidic protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2670 ; - skos:exactMatch HGNC_symbol:GFAP ; + skos:exactMatch UMLS:C1415042, + HGNC:4235, + HGNC_symbol:GFAP ; biolink:category biolink:Gene . OMIM:137900 a owl:Class ; rdfs:label "globulin anomaly involving beta (2a)-globulin" ; IAO:0000142 PMID:14325908 ; - oboInOwl:hasDbXref UMLS:C1842009 ; - oboInOwl:hasExactSynonym "globulin anomaly involving beta (2a)-globulin" . + oboInOwl:hasExactSynonym "globulin anomaly involving beta (2a)-globulin" ; + skos:exactMatch UMLS:C1842009 . OMIM:137960 a owl:Class ; rdfs:label "MPV17" ; @@ -29654,13 +30339,14 @@ OMIM:137960 a owl:Class ; PMID:8281143 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:256810 ; - oboInOwl:hasDbXref UMLS:C1417247 ; oboInOwl:hasExactSynonym "MPV17", "mitochondrial inner membrane protein mpv17", "mpv17, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4358 ; - skos:exactMatch HGNC_symbol:MPV17 ; + skos:exactMatch UMLS:C1417247, + HGNC:7224, + HGNC_symbol:MPV17 ; biolink:category biolink:Gene . OMIM:138030 a owl:Class ; @@ -29691,14 +30377,15 @@ OMIM:138030 a owl:Class ; PMID:7814643, PMID:8381211, PMID:8538742 ; - oboInOwl:hasDbXref UMLS:C1333664 ; oboInOwl:hasExactSynonym "GCG", "glucagon", "glucagon-like peptide 1", "glucagon-like peptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2641 ; - skos:exactMatch HGNC_symbol:GCG ; + skos:exactMatch UMLS:C1333664, + HGNC:4191, + HGNC_symbol:GCG ; biolink:category biolink:Gene . OMIM:138032 a owl:Class ; @@ -29714,13 +30401,14 @@ OMIM:138032 a owl:Class ; PMID:8392011, PMID:8404634, PMID:9927286 ; - oboInOwl:hasDbXref UMLS:C1415105 ; oboInOwl:hasExactSynonym "GLP1R", "glp1 receptor", "glucagon-like peptide 1 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2740 ; - skos:exactMatch HGNC_symbol:GLP1R ; + skos:exactMatch UMLS:C1415105, + HGNC:4324, + HGNC_symbol:GLP1R ; biolink:category biolink:Gene . OMIM:138033 a owl:Class ; @@ -29748,13 +30436,14 @@ OMIM:138033 a owl:Class ; PMID:8563746 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:619290 ; - oboInOwl:hasDbXref UMLS:C1415011, - UMLS:C5394558 ; oboInOwl:hasExactSynonym "GCGR", "glucagon receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2642 ; - skos:exactMatch HGNC_symbol:GCGR ; + skos:exactMatch UMLS:C1415011, + UMLS:C5394558, + HGNC:4192, + HGNC_symbol:GCGR ; biolink:category biolink:Gene . OMIM:138035 a owl:Class ; @@ -29847,21 +30536,22 @@ OMIM:138040 a owl:Class ; PMID:9604929 ; RO:0002525 CHR:9606chr5q31.3 ; RO:0003303 OMIM:615962 ; - oboInOwl:hasDbXref UMLS:C1334899 ; oboInOwl:hasExactSynonym "NR3C1", "gcr", "glucocorticoid receptor", "nuclear receptor subfamily 3, group c, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2908 ; - skos:exactMatch HGNC_symbol:NR3C1 ; + skos:exactMatch UMLS:C1334899, + HGNC:7978, + HGNC_symbol:NR3C1 ; biolink:category biolink:Gene . OMIM:138070 a owl:Class ; rdfs:label "glucoglycinuria" ; IAO:0000142 PMID:14454131 ; - oboInOwl:hasDbXref UMLS:C0268536 ; - oboInOwl:hasExactSynonym "glucoglycinuria" . + oboInOwl:hasExactSynonym "glucoglycinuria" ; + skos:exactMatch UMLS:C0268536 . OMIM:138079 a owl:Class ; rdfs:label "GCK" ; @@ -29920,11 +30610,6 @@ OMIM:138079 a owl:Class ; PMID:9894356 ; RO:0002525 CHR:9606chr7p13 ; RO:0003303 OMIM:125851 ; - oboInOwl:hasDbXref UMLS:C0011860, - UMLS:C0342277, - UMLS:C1415014, - UMLS:C1865290, - UMLS:C5393570 ; oboInOwl:hasExactSynonym "GCK", "gk", "glucokinase", @@ -29932,7 +30617,13 @@ OMIM:138079 a owl:Class ; "liver glucokinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2645 ; - skos:exactMatch HGNC_symbol:GCK ; + skos:exactMatch UMLS:C0011860, + UMLS:C0342277, + UMLS:C1415014, + UMLS:C1865290, + UMLS:C5393570, + HGNC:4195, + HGNC_symbol:GCK ; biolink:category biolink:Gene . OMIM:138100 a owl:Class ; @@ -29942,9 +30633,9 @@ OMIM:138100 a owl:Class ; OMIM:138110 a owl:Class ; rdfs:label "glucose-6-phosphate dehydrogenase-like" ; IAO:0000142 PMID:3752086 ; - oboInOwl:hasDbXref UMLS:C1414893 ; oboInOwl:hasExactSynonym "G6PDL", - "glucose-6-phosphate dehydrogenase-like" . + "glucose-6-phosphate dehydrogenase-like" ; + skos:exactMatch UMLS:C1414893 . OMIM:138120 a owl:Class ; rdfs:label "HSPA5" ; @@ -29958,14 +30649,15 @@ OMIM:138120 a owl:Class ; PMID:6946438, PMID:8020977, PMID:9514162 ; - oboInOwl:hasDbXref UMLS:C1415761 ; oboInOwl:hasExactSynonym "HSPA5", "glucose-regulated protein, 78-kd", "heat-shock 70-kd protein 5", "immunoglobulin heavy chain-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3309 ; - skos:exactMatch HGNC_symbol:HSPA5 ; + skos:exactMatch UMLS:C1415761, + HGNC:5238, + HGNC_symbol:HSPA5 ; biolink:category biolink:Gene . OMIM:138150 a owl:Class ; @@ -29985,14 +30677,15 @@ OMIM:138150 a owl:Class ; PMID:752471 ; RO:0002525 CHR:9606chr16q21 ; RO:0003303 OMIM:618721 ; - oboInOwl:hasDbXref UMLS:C1415182, - UMLS:C5231473 ; oboInOwl:hasExactSynonym "GOT2", "aspartate aminotransferase, mitochondrial", "glutamate oxaloacetate transaminase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2806 ; - skos:exactMatch HGNC_symbol:GOT2 ; + skos:exactMatch UMLS:C1415182, + UMLS:C5231473, + HGNC:4433, + HGNC_symbol:GOT2 ; biolink:category biolink:Gene . OMIM:138160 a owl:Class ; @@ -30033,16 +30726,17 @@ OMIM:138160 a owl:Class ; PMID:9686354 ; RO:0002525 CHR:9606chr3q26.2 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1420172, - UMLS:C3495427, - UMLS:C3837967 ; oboInOwl:hasExactSynonym "SLC2A2", "glucose transporter 2", "glucose transporter, liver/islet", "solute carrier family 2 (facilitated glucose transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6514 ; - skos:exactMatch HGNC_symbol:SLC2A2 ; + skos:exactMatch UMLS:C1420172, + UMLS:C3495427, + UMLS:C3837967, + HGNC:11006, + HGNC_symbol:SLC2A2 ; biolink:category biolink:Gene . OMIM:138180 a owl:Class ; @@ -30067,13 +30761,14 @@ OMIM:138180 a owl:Class ; PMID:752523 ; RO:0002525 CHR:9606chr10q24.2 ; RO:0003303 OMIM:614419 ; - oboInOwl:hasDbXref UMLS:C1415181 ; oboInOwl:hasExactSynonym "GOT1", "aspartate aminotransferase, cytosolic", "glutamate oxaloacetate transaminase, soluble" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2805 ; - skos:exactMatch HGNC_symbol:GOT1 ; + skos:exactMatch UMLS:C1415181, + HGNC:4432, + HGNC_symbol:GOT1 ; biolink:category biolink:Gene . OMIM:138190 a owl:Class ; @@ -30109,14 +30804,15 @@ OMIM:138190 a owl:Class ; PMID:9334720, PMID:9447983, PMID:9616209 ; - oboInOwl:hasDbXref UMLS:C1420175 ; oboInOwl:hasExactSynonym "SLC2A4", "glucose transporter 4", "glucose transporter, insulin-responsive", "solute carrier family 2 (facilitated glucose transporter), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6517 ; - skos:exactMatch HGNC_symbol:SLC2A4 ; + skos:exactMatch UMLS:C1420175, + HGNC:11009, + HGNC_symbol:SLC2A4 ; biolink:category biolink:Gene . OMIM:138220 a owl:Class ; @@ -30130,14 +30826,15 @@ OMIM:138230 a owl:Class ; PMID:1695905, PMID:26416735, PMID:9691177 ; - oboInOwl:hasDbXref UMLS:C1420176 ; oboInOwl:hasExactSynonym "SLC2A5", "glucose transporter 5", "glucose transporter, kidney", "solute carrier family 2 (facilitated glucose/fructose transporter), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6518 ; - skos:exactMatch HGNC_symbol:SLC2A5 ; + skos:exactMatch UMLS:C1420176, + HGNC:11010, + HGNC_symbol:SLC2A5 ; biolink:category biolink:Gene . OMIM:138240 a owl:Class ; @@ -30147,13 +30844,14 @@ OMIM:138240 a owl:Class ; OMIM:138243 a owl:Class ; rdfs:label "GRIK3" ; IAO:0000142 PMID:8128318 ; - oboInOwl:hasDbXref UMLS:C1415295 ; oboInOwl:hasExactSynonym "GRIK3", "glutamate receptor 7", "glutamate receptor, ionotropic, kainate 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2899 ; - skos:exactMatch HGNC_symbol:GRIK3 ; + skos:exactMatch UMLS:C1415295, + HGNC:4581, + HGNC_symbol:GRIK3 ; biolink:category biolink:Gene . OMIM:138244 a owl:Class ; @@ -30168,14 +30866,15 @@ OMIM:138244 a owl:Class ; PMID:9108071 ; RO:0002525 CHR:9606chr6q16.3 ; RO:0003303 OMIM:619580 ; - oboInOwl:hasDbXref UMLS:C1415294, - UMLS:C1970198 ; oboInOwl:hasExactSynonym "GRIK2", "glutamate receptor 6", "glutamate receptor, ionotropic, kainate 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2898 ; - skos:exactMatch HGNC_symbol:GRIK2 ; + skos:exactMatch UMLS:C1415294, + UMLS:C1970198, + HGNC:4580, + HGNC_symbol:GRIK2 ; biolink:category biolink:Gene . OMIM:138245 a owl:Class ; @@ -30191,13 +30890,14 @@ OMIM:138245 a owl:Class ; PMID:8419920, PMID:8464923, PMID:8468067 ; - oboInOwl:hasDbXref UMLS:C1415293 ; oboInOwl:hasExactSynonym "GRIK1", "glutamate receptor 5", "glutamate receptor, ionotropic, kainate 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2897 ; - skos:exactMatch HGNC_symbol:GRIK1 ; + skos:exactMatch UMLS:C1415293, + HGNC:4579, + HGNC_symbol:GRIK1 ; biolink:category biolink:Gene . OMIM:138246 a owl:Class ; @@ -30213,14 +30913,15 @@ OMIM:138246 a owl:Class ; PMID:8464923 ; RO:0002525 CHR:9606chr11q22.3 ; RO:0003303 OMIM:617864 ; - oboInOwl:hasDbXref UMLS:C1415289 ; oboInOwl:hasExactSynonym "GRIA4", "glurd", "glutamate receptor 4", "glutamate receptor, ionotropic, ampa 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2893 ; - skos:exactMatch HGNC_symbol:GRIA4 ; + skos:exactMatch UMLS:C1415289, + HGNC:4574, + HGNC_symbol:GRIA4 ; biolink:category biolink:Gene . OMIM:138247 a owl:Class ; @@ -30260,15 +30961,16 @@ OMIM:138247 a owl:Class ; PMID:8464923 ; RO:0002525 CHR:9606chr4q32.1 ; RO:0003303 OMIM:618917 ; - oboInOwl:hasDbXref UMLS:C1415288, - UMLS:C5394502 ; oboInOwl:hasExactSynonym "GRIA2", "glurb", "glutamate receptor 2", "glutamate receptor, ionotropic, ampa 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2891 ; - skos:exactMatch HGNC_symbol:GRIA2 ; + skos:exactMatch UMLS:C1415288, + UMLS:C5394502, + HGNC:4572, + HGNC_symbol:GRIA2 ; biolink:category biolink:Gene . OMIM:138248 a owl:Class ; @@ -30300,14 +31002,15 @@ OMIM:138248 a owl:Class ; PMID:30975770, PMID:8420792, PMID:8464923 ; - oboInOwl:hasDbXref UMLS:C1415287 ; oboInOwl:hasExactSynonym "GRIA1", "glura", "glutamate receptor 1", "glutamate receptor, ionotropic, ampa 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2890 ; - skos:exactMatch HGNC_symbol:GRIA1 ; + skos:exactMatch UMLS:C1415287, + HGNC:4571, + HGNC_symbol:GRIA1 ; biolink:category biolink:Gene . OMIM:138249 a owl:Class ; @@ -30360,21 +31063,22 @@ OMIM:138249 a owl:Class ; PMID:8980240 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:617820 ; - oboInOwl:hasDbXref UMLS:C1415298, - UMLS:C4693959, - UMLS:C4693960, - UMLS:C4693961, - UMLS:C4693962, - UMLS:C4693963, - UMLS:C4693964, - UMLS:C4693965 ; oboInOwl:hasExactSynonym "GRIN1", "glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 1", "n-methyl-d-aspartate receptor channel, subunit zeta-1", "nr1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2902 ; - skos:exactMatch HGNC_symbol:GRIN1 ; + skos:exactMatch UMLS:C1415298, + UMLS:C4693959, + UMLS:C4693960, + UMLS:C4693961, + UMLS:C4693962, + UMLS:C4693963, + UMLS:C4693964, + UMLS:C4693965, + HGNC:4584, + HGNC_symbol:GRIN1 ; biolink:category biolink:Gene . OMIM:138250 a owl:Class ; @@ -30396,7 +31100,6 @@ OMIM:138250 a owl:Class ; PMID:9973297 ; RO:0002525 CHR:9606chr10q24.1 ; RO:0003303 OMIM:616586 ; - oboInOwl:hasDbXref UMLS:C1538262 ; oboInOwl:hasExactSynonym "1-pyrroline-5-carboxylate synthetase", "ALDH18A1", "aldehyde dehydrogenase 18 family, member a1", @@ -30404,7 +31107,9 @@ OMIM:138250 a owl:Class ; "p5cs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5832 ; - skos:exactMatch HGNC_symbol:ALDH18A1 ; + skos:exactMatch UMLS:C1538262, + HGNC:9722, + HGNC_symbol:ALDH18A1 ; biolink:category biolink:Gene . OMIM:138251 a owl:Class ; @@ -30413,7 +31118,6 @@ OMIM:138251 a owl:Class ; PMID:1719427, PMID:8406459, PMID:8786101 ; - oboInOwl:hasDbXref UMLS:C1415303 ; oboInOwl:hasExactSynonym "GRINA", "glutamate receptor, ionotropic, n-methyl-d-aspartate, associated protein", "glutamate receptor, nmda subtype, glutamate-binding subunit", @@ -30421,7 +31125,9 @@ OMIM:138251 a owl:Class ; "n-methyl-d-aspartate receptor-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2907 ; - skos:exactMatch HGNC_symbol:GRINA ; + skos:exactMatch UMLS:C1415303, + HGNC:4589, + HGNC_symbol:GRINA ; biolink:category biolink:Gene . OMIM:138252 a owl:Class ; @@ -30461,17 +31167,18 @@ OMIM:138252 a owl:Class ; PMID:9458051 ; RO:0002525 CHR:9606chr12p13.1 ; RO:0003303 OMIM:613970 ; - oboInOwl:hasDbXref UMLS:C1415300, - UMLS:C3151411, - UMLS:C4015316, - UMLS:C4540533 ; oboInOwl:hasExactSynonym "GRIN2B", "glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2b", "n-methyl-d-aspartate receptor channel, subunit epsilon-2", "nr2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2904 ; - skos:exactMatch HGNC_symbol:GRIN2B ; + skos:exactMatch UMLS:C1415300, + UMLS:C3151411, + UMLS:C4015316, + UMLS:C4540533, + HGNC:4586, + HGNC_symbol:GRIN2B ; biolink:category biolink:Gene . OMIM:138253 a owl:Class ; @@ -30511,14 +31218,15 @@ OMIM:138253 a owl:Class ; PMID:9480759 ; RO:0002525 CHR:9606chr16p13.2 ; RO:0003303 OMIM:245570 ; - oboInOwl:hasDbXref UMLS:C1415299 ; oboInOwl:hasExactSynonym "GRIN2A", "glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a", "n-methyl-d-aspartate receptor channel, subunit epsilon-1", "nr2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2903 ; - skos:exactMatch HGNC_symbol:GRIN2A ; + skos:exactMatch UMLS:C1415299, + HGNC:4585, + HGNC_symbol:GRIN2A ; biolink:category biolink:Gene . OMIM:138254 a owl:Class ; @@ -30531,14 +31239,15 @@ OMIM:138254 a owl:Class ; PMID:9414162, PMID:9458051, PMID:9480759 ; - oboInOwl:hasDbXref UMLS:C1415301 ; oboInOwl:hasExactSynonym "GRIN2C", "glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2c", "n-methyl-d-aspartate receptor channel, subunit epsilon-3", "nr2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2905 ; - skos:exactMatch HGNC_symbol:GRIN2C ; + skos:exactMatch UMLS:C1415301, + HGNC:4587, + HGNC_symbol:GRIN2C ; biolink:category biolink:Gene . OMIM:138270 a owl:Class ; @@ -30571,14 +31280,15 @@ OMIM:138275 a owl:Class ; PMID:8954991, PMID:9391152, PMID:9892237 ; - oboInOwl:hasDbXref UMLS:C1414926 ; oboInOwl:hasExactSynonym "GAD2", "glutamate decarboxylase 2", "glutamate decarboxylase, pancreatic islet and brain, 65-kd", "glutamic acid decarboxylase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2572 ; - skos:exactMatch HGNC_symbol:GAD2 ; + skos:exactMatch UMLS:C1414926, + HGNC:4093, + HGNC_symbol:GAD2 ; biolink:category biolink:Gene . OMIM:138276 a owl:Class ; @@ -30588,8 +31298,8 @@ OMIM:138276 a owl:Class ; OMIM:138277 a owl:Class ; rdfs:label "glutamic acid decarboxylase, brain, membrane form" ; IAO:0000142 PMID:8278373 ; - oboInOwl:hasDbXref UMLS:C1841911 ; - oboInOwl:hasExactSynonym "glutamic acid decarboxylase, brain, membrane form" . + oboInOwl:hasExactSynonym "glutamic acid decarboxylase, brain, membrane form" ; + skos:exactMatch UMLS:C1841911 . OMIM:138280 a owl:Class ; rdfs:label "GLS" ; @@ -30606,10 +31316,6 @@ OMIM:138280 a owl:Class ; PMID:6825316 ; RO:0002525 CHR:9606chr2q32.2 ; RO:0003303 OMIM:618412 ; - oboInOwl:hasDbXref UMLS:C1415112, - UMLS:C5193030, - UMLS:C5193037, - UMLS:C5193080 ; oboInOwl:hasExactSynonym "GLS", "glutaminase", "glutaminase, phosphate-activated", @@ -30617,7 +31323,12 @@ OMIM:138280 a owl:Class ; "kiaa0838" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2744 ; - skos:exactMatch HGNC_symbol:GLS ; + skos:exactMatch UMLS:C1415112, + UMLS:C5193030, + UMLS:C5193037, + UMLS:C5193080, + HGNC:4331, + HGNC_symbol:GLS ; biolink:category biolink:Gene . OMIM:138290 a owl:Class ; @@ -30634,7 +31345,6 @@ OMIM:138290 a owl:Class ; PMID:9107685 ; RO:0002525 CHR:9606chr1q25.3 ; RO:0003303 OMIM:610015 ; - oboInOwl:hasDbXref UMLS:C1415119 ; oboInOwl:hasExactSynonym "GLUL", "glutamate-ammonia ligase", "glutamate-ammonia ligase-like 1", @@ -30643,7 +31353,9 @@ OMIM:138290 a owl:Class ; "glutamine synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2752 ; - skos:exactMatch HGNC_symbol:GLUL ; + skos:exactMatch UMLS:C1415119, + HGNC:4341, + HGNC_symbol:GLUL ; biolink:category biolink:Gene . OMIM:138292 a owl:Class ; @@ -30659,7 +31371,6 @@ OMIM:138292 a owl:Class ; PMID:8664562 ; RO:0002525 CHR:9606chr2p13.3 ; RO:0003303 OMIM:610542 ; - oboInOwl:hasDbXref UMLS:C1415046 ; oboInOwl:hasExactSynonym "GFPT1", "gfat", "gfat1", @@ -30667,7 +31378,9 @@ OMIM:138292 a owl:Class ; "glutamine:fructose-6-phosphate amidotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2673 ; - skos:exactMatch HGNC_symbol:GFPT1 ; + skos:exactMatch UMLS:C1415046, + HGNC:4241, + HGNC_symbol:GFPT1 ; biolink:category biolink:Gene . OMIM:138295 a owl:Class ; @@ -30684,7 +31397,6 @@ OMIM:138295 a owl:Class ; PMID:8188258 ; RO:0002525 CHR:9606chr1q41 ; RO:0003303 OMIM:617951 ; - oboInOwl:hasDbXref UMLS:C1414437 ; oboInOwl:hasExactSynonym "EPRS1", "eprs", "glu-pro-trna synthetase", @@ -30692,7 +31404,9 @@ OMIM:138295 a owl:Class ; "prolyl-trna synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2058 ; - skos:exactMatch HGNC_symbol:EPRS1 ; + skos:exactMatch UMLS:C1414437, + HGNC:3418, + HGNC_symbol:EPRS1 ; biolink:category biolink:Gene . OMIM:138297 a owl:Class ; @@ -30702,14 +31416,15 @@ OMIM:138297 a owl:Class ; PMID:8244382, PMID:8346219, PMID:9268642 ; - oboInOwl:hasDbXref UMLS:C1414406 ; oboInOwl:hasExactSynonym "ENPEP", "aminopeptidase a", "glutamyl aminopeptidase", "gp160" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2028 ; - skos:exactMatch HGNC_symbol:ENPEP ; + skos:exactMatch UMLS:C1414406, + HGNC:3355, + HGNC_symbol:ENPEP ; biolink:category biolink:Gene . OMIM:138300 a owl:Class ; @@ -30735,13 +31450,14 @@ OMIM:138300 a owl:Class ; PMID:947404 ; RO:0002525 CHR:9606chr8p12 ; RO:0003303 OMIM:618660 ; - oboInOwl:hasDbXref UMLS:C1415326, - UMLS:C1841904 ; oboInOwl:hasExactSynonym "GSR", "glutathione reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2936 ; - skos:exactMatch HGNC_symbol:GSR ; + skos:exactMatch UMLS:C1415326, + UMLS:C1841904, + HGNC:4623, + HGNC_symbol:GSR ; biolink:category biolink:Gene . OMIM:138319 a owl:Class ; @@ -30751,13 +31467,14 @@ OMIM:138319 a owl:Class ; PMID:8428933, PMID:8661011, PMID:8833155 ; - oboInOwl:hasDbXref UMLS:C1415276 ; oboInOwl:hasExactSynonym "GPX2", "glutathione peroxidase 2", "glutathione peroxidase, gastrointestinal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2877 ; - skos:exactMatch HGNC_symbol:GPX2 ; + skos:exactMatch UMLS:C1415276, + HGNC:4554, + HGNC_symbol:GPX2 ; biolink:category biolink:Gene . OMIM:138320 a owl:Class ; @@ -30789,12 +31506,13 @@ OMIM:138320 a owl:Class ; PMID:9712879 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:614164 ; - oboInOwl:hasDbXref UMLS:C1415275 ; oboInOwl:hasExactSynonym "GPX1", "glutathione peroxidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2876 ; - skos:exactMatch HGNC_symbol:GPX1 ; + skos:exactMatch UMLS:C1415275, + HGNC:4553, + HGNC_symbol:GPX1 ; biolink:category biolink:Gene . OMIM:138321 a owl:Class ; @@ -30803,13 +31521,14 @@ OMIM:138321 a owl:Class ; PMID:2229017, PMID:3015592, PMID:8287691 ; - oboInOwl:hasDbXref UMLS:C1415277 ; oboInOwl:hasExactSynonym "GPX3", "glutathione peroxidase 3", "glutathione peroxidase, plasma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2878 ; - skos:exactMatch HGNC_symbol:GPX3 ; + skos:exactMatch UMLS:C1415277, + HGNC:4555, + HGNC_symbol:GPX3 ; biolink:category biolink:Gene . OMIM:138322 a owl:Class ; @@ -30832,13 +31551,14 @@ OMIM:138322 a owl:Class ; PMID:9705830 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:250220 ; - oboInOwl:hasDbXref UMLS:C1415278 ; oboInOwl:hasExactSynonym "GPX4", "glutathione peroxidase 4", "phospholipid hydroperoxide glutathione peroxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2879 ; - skos:exactMatch HGNC_symbol:GPX4 ; + skos:exactMatch UMLS:C1415278, + HGNC:4556, + HGNC_symbol:GPX4 ; biolink:category biolink:Gene . OMIM:138330 a owl:Class ; @@ -30848,13 +31568,14 @@ OMIM:138330 a owl:Class ; PMID:2307478, PMID:3372534, PMID:8812420 ; - oboInOwl:hasDbXref UMLS:C1417145 ; oboInOwl:hasExactSynonym "MGST1", "glutathione s-transferase 12", "glutathione s-transferase, microsomal, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4257 ; - skos:exactMatch HGNC_symbol:MGST1 ; + skos:exactMatch UMLS:C1417145, + HGNC:7061, + HGNC_symbol:MGST1 ; biolink:category biolink:Gene . OMIM:138333 a owl:Class ; @@ -30864,13 +31585,14 @@ OMIM:138333 a owl:Class ; PMID:8276420, PMID:8349586, PMID:8373352 ; - oboInOwl:hasDbXref UMLS:C1415337 ; oboInOwl:hasExactSynonym "GSTM4", "glutathione s-transferase m4", "glutathione s-transferase, mu-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2948 ; - skos:exactMatch HGNC_symbol:GSTM4 ; + skos:exactMatch UMLS:C1415337, + HGNC:4636, + HGNC_symbol:GSTM4 ; biolink:category biolink:Gene . OMIM:138335 a owl:Class ; @@ -30880,9 +31602,9 @@ OMIM:138335 a owl:Class ; OMIM:138340 a owl:Class ; rdfs:label "glutathione transferase activity toward trans-stilbene oxide" ; IAO:0000142 PMID:3967891 ; - oboInOwl:hasDbXref UMLS:C1841901 ; oboInOwl:hasExactSynonym "glutathione transferase activity toward trans-stilbene oxide", - "trans-stilbene oxide glutathione transferase activity" . + "trans-stilbene oxide glutathione transferase activity" ; + skos:exactMatch UMLS:C1841901 . OMIM:138350 a owl:Class ; rdfs:label "GSTM1" ; @@ -30921,7 +31643,6 @@ OMIM:138350 a owl:Class ; PMID:9156696, PMID:9415705, PMID:9452477 ; - oboInOwl:hasDbXref UMLS:C0919534 ; oboInOwl:hasExactSynonym "GSTM1", "glutathione s-transferase m1", "glutathione s-transferase, mu-1", @@ -30930,7 +31651,9 @@ OMIM:138350 a owl:Class ; "liver and fibroblast gst1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2944 ; - skos:exactMatch HGNC_symbol:GSTM1 ; + skos:exactMatch UMLS:C0919534, + HGNC:4632, + HGNC_symbol:GSTM1 ; biolink:category biolink:Gene . OMIM:138359 a owl:Class ; @@ -30938,14 +31661,15 @@ OMIM:138359 a owl:Class ; IAO:0000142 PMID:10791551, PMID:12042665, PMID:8307579 ; - oboInOwl:hasDbXref UMLS:C1415328 ; oboInOwl:hasExactSynonym "GSTA1", "glutathione s-transferase a1", "glutathione s-transferase, alpha-1", "gst, class alpha, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2938 ; - skos:exactMatch HGNC_symbol:GSTA1 ; + skos:exactMatch UMLS:C1415328, + HGNC:4626, + HGNC_symbol:GSTA1 ; biolink:category biolink:Gene . OMIM:138360 a owl:Class ; @@ -30959,7 +31683,6 @@ OMIM:138360 a owl:Class ; PMID:3138230, PMID:3898742, PMID:8307579 ; - oboInOwl:hasDbXref UMLS:C1415329 ; oboInOwl:hasExactSynonym "GSTA2", "glutathione s-transferase 2", "glutathione s-transferase a2", @@ -30968,7 +31691,9 @@ OMIM:138360 a owl:Class ; "liver gst2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2939 ; - skos:exactMatch HGNC_symbol:GSTA2 ; + skos:exactMatch UMLS:C1415329, + HGNC:4627, + HGNC_symbol:GSTA2 ; biolink:category biolink:Gene . OMIM:138380 a owl:Class ; @@ -30977,7 +31702,6 @@ OMIM:138380 a owl:Class ; PMID:2034681, PMID:3898742, PMID:8317488 ; - oboInOwl:hasDbXref UMLS:C1415335 ; oboInOwl:hasExactSynonym "GSTM2", "glutathione s-transferase 4", "glutathione s-transferase m2", @@ -30985,7 +31709,9 @@ OMIM:138380 a owl:Class ; "gst, muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2946 ; - skos:exactMatch HGNC_symbol:GSTM2 ; + skos:exactMatch UMLS:C1415335, + HGNC:4634, + HGNC_symbol:GSTM2 ; biolink:category biolink:Gene . OMIM:138390 a owl:Class ; @@ -30994,7 +31720,6 @@ OMIM:138390 a owl:Class ; PMID:8317488, PMID:8404061, PMID:8554510 ; - oboInOwl:hasDbXref UMLS:C1415336 ; oboInOwl:hasExactSynonym "GSTM3", "brain gst", "glutathione s-transferase 5", @@ -31002,7 +31727,9 @@ OMIM:138390 a owl:Class ; "glutathione s-transferase, mu-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2947 ; - skos:exactMatch HGNC_symbol:GSTM3 ; + skos:exactMatch UMLS:C1415336, + HGNC:4635, + HGNC_symbol:GSTM3 ; biolink:category biolink:Gene . OMIM:138391 a owl:Class ; @@ -31041,7 +31768,6 @@ OMIM:138400 a owl:Class ; PMID:8612215, PMID:8612237, PMID:8638101 ; - oboInOwl:hasDbXref UMLS:C1414968 ; oboInOwl:hasExactSynonym "GAPDH", "gapd", "glyceraldehyde-3-phosphate dehydrogenase", @@ -31049,7 +31775,9 @@ OMIM:138400 a owl:Class ; "oct1 coactivator 1n s phase, 38-kd component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2597 ; - skos:exactMatch HGNC_symbol:GAPDH ; + skos:exactMatch UMLS:C1414968, + HGNC:4141, + HGNC_symbol:GAPDH ; biolink:category biolink:Gene . OMIM:138420 a owl:Class ; @@ -31062,14 +31790,15 @@ OMIM:138420 a owl:Class ; PMID:9247308 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:614480 ; - oboInOwl:hasDbXref UMLS:C1415199 ; oboInOwl:hasExactSynonym "GPD1", "glycerol-3-phosphate dehydrogenase 1", "glycerol-3-phosphate dehydrogenase, cytosolic", "glycerophosphate dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2819 ; - skos:exactMatch HGNC_symbol:GPD1 ; + skos:exactMatch UMLS:C1415199, + HGNC:4455, + HGNC_symbol:GPD1 ; biolink:category biolink:Gene . OMIM:138430 a owl:Class ; @@ -31085,7 +31814,6 @@ OMIM:138430 a owl:Class ; PMID:9070847 ; RO:0002525 CHR:9606chr2q24.1 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1415200 ; oboInOwl:hasExactSynonym "GPD2", "gdh2", "glycerol-3-phosphate dehydrogenase 2", @@ -31093,7 +31821,9 @@ OMIM:138430 a owl:Class ; "gpd, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2820 ; - skos:exactMatch HGNC_symbol:GPD2 ; + skos:exactMatch UMLS:C1415200, + HGNC:4456, + HGNC_symbol:GPD2 ; biolink:category biolink:Gene . OMIM:138440 a owl:Class ; @@ -31107,7 +31837,6 @@ OMIM:138440 a owl:Class ; PMID:6941256, PMID:889603, PMID:9328467 ; - oboInOwl:hasDbXref UMLS:C1414989 ; oboInOwl:hasExactSynonym "GART", "airs", "glycinamide phosphoribosyl synthetase", @@ -31120,7 +31849,9 @@ OMIM:138440 a owl:Class ; "phosphoribosylglycinamide synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2618 ; - skos:exactMatch HGNC_symbol:GART ; + skos:exactMatch UMLS:C1414989, + HGNC:4163, + HGNC_symbol:GART ; biolink:category biolink:Gene . OMIM:138450 a owl:Class ; @@ -31141,14 +31872,15 @@ OMIM:138450 a owl:Class ; PMID:8999870 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:619121 ; - oboInOwl:hasDbXref UMLS:C1420040, - UMLS:C5436848 ; oboInOwl:hasExactSynonym "SHMT2", "glycine auxotroph a, human complement for hamster", "serine hydroxymethyltransferase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6472 ; - skos:exactMatch HGNC_symbol:SHMT2 ; + skos:exactMatch UMLS:C1420040, + UMLS:C5436848, + HGNC:10852, + HGNC_symbol:SHMT2 ; biolink:category biolink:Gene . OMIM:138470 a owl:Class ; @@ -31196,7 +31928,6 @@ OMIM:138470 a owl:Class ; PMID:993342 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:615489 ; - oboInOwl:hasDbXref UMLS:C1824728 ; oboInOwl:hasExactSynonym "CFB", "c3 proaccelerator", "c3 proactivator", @@ -31207,7 +31938,9 @@ OMIM:138470 a owl:Class ; "properdin factor B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:629 ; - skos:exactMatch HGNC_symbol:CFB ; + skos:exactMatch UMLS:C1824728, + HGNC:1037, + HGNC_symbol:CFB ; biolink:category biolink:Gene . OMIM:138491 a owl:Class ; @@ -31240,12 +31973,13 @@ OMIM:138491 a owl:Class ; PMID:9920650 ; RO:0002525 CHR:9606chr5q33.1 ; RO:0003303 OMIM:149400 ; - oboInOwl:hasDbXref UMLS:C1415107 ; oboInOwl:hasExactSynonym "GLRA1", "glycine receptor, alpha-1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2741 ; - skos:exactMatch HGNC_symbol:GLRA1 ; + skos:exactMatch UMLS:C1415107, + HGNC:4326, + HGNC_symbol:GLRA1 ; biolink:category biolink:Gene . OMIM:138492 a owl:Class ; @@ -31258,12 +31992,13 @@ OMIM:138492 a owl:Class ; PMID:9676428 ; RO:0002525 CHR:9606chr4q32.1 ; RO:0003303 OMIM:614619 ; - oboInOwl:hasDbXref UMLS:C1415110 ; oboInOwl:hasExactSynonym "GLRB", "glycine receptor, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2743 ; - skos:exactMatch HGNC_symbol:GLRB ; + skos:exactMatch UMLS:C1415110, + HGNC:4329, + HGNC_symbol:GLRB ; biolink:category biolink:Gene . OMIM:138550 a owl:Class ; @@ -31271,12 +32006,13 @@ OMIM:138550 a owl:Class ; IAO:0000142 PMID:2575583, PMID:3346228, PMID:8244401 ; - oboInOwl:hasDbXref UMLS:C1419154 ; oboInOwl:hasExactSynonym "PYGB", "glycogen phosphorylase, brain iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5834 ; - skos:exactMatch HGNC_symbol:PYGB ; + skos:exactMatch UMLS:C1419154, + HGNC:9723, + HGNC_symbol:PYGB ; biolink:category biolink:Gene . OMIM:138570 a owl:Class ; @@ -31296,14 +32032,15 @@ OMIM:138570 a owl:Class ; PMID:8479502 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:611556 ; - oboInOwl:hasDbXref UMLS:C1415377 ; oboInOwl:hasExactSynonym "GYS1", "glycogen synthase 1", "glycogen synthase, muscle", "gys" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2997 ; - skos:exactMatch HGNC_symbol:GYS1 ; + skos:exactMatch UMLS:C1415377, + HGNC:4706, + HGNC_symbol:GYS1 ; biolink:category biolink:Gene . OMIM:138571 a owl:Class ; @@ -31316,14 +32053,15 @@ OMIM:138571 a owl:Class ; PMID:9691087 ; RO:0002525 CHR:9606chr12p12.1 ; RO:0003303 OMIM:240600 ; - oboInOwl:hasDbXref UMLS:C1415378 ; oboInOwl:hasExactSynonym "GYS2", "glycogen synthase 2", "glycogen synthase, liver", "liver glycogen synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2998 ; - skos:exactMatch HGNC_symbol:GYS2 ; + skos:exactMatch UMLS:C1415378, + HGNC:4707, + HGNC_symbol:GYS2 ; biolink:category biolink:Gene . OMIM:138590 a owl:Class ; @@ -31333,13 +32071,14 @@ OMIM:138590 a owl:Class ; PMID:2390989, PMID:7622054, PMID:8346238 ; - oboInOwl:hasDbXref UMLS:C1415376 ; oboInOwl:hasExactSynonym "GYPE", "glycophorin e", "gpe" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2996 ; - skos:exactMatch HGNC_symbol:GYPE ; + skos:exactMatch UMLS:C1415376, + HGNC:4705, + HGNC_symbol:GYPE ; biolink:category biolink:Gene . OMIM:138600 a owl:Class ; @@ -31364,7 +32103,6 @@ OMIM:138600 a owl:Class ; PMID:4982230, PMID:8447119, PMID:9050929 ; - oboInOwl:hasDbXref UMLS:C1418186 ; oboInOwl:hasExactSynonym "ORM1", "alpha-1-acid glycoprotein", "alpha-1-agp", @@ -31373,7 +32111,9 @@ OMIM:138600 a owl:Class ; "orosomucoid 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5004 ; - skos:exactMatch HGNC_symbol:ORM1 ; + skos:exactMatch UMLS:C1418186, + HGNC:8498, + HGNC_symbol:ORM1 ; biolink:category biolink:Gene . OMIM:138610 a owl:Class ; @@ -31389,14 +32129,15 @@ OMIM:138610 a owl:Class ; PMID:3679210, PMID:3770743, PMID:9050929 ; - oboInOwl:hasDbXref UMLS:C1418187 ; oboInOwl:hasExactSynonym "ORM2", "alpha-1-acid glycoprotein, iia 2", "glycoprotein, alpha-1-acid, of serum, iia 2", "orosomucoid 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5005 ; - skos:exactMatch HGNC_symbol:ORM2 ; + skos:exactMatch UMLS:C1418187, + HGNC:8499, + HGNC_symbol:ORM2 ; biolink:category biolink:Gene . OMIM:138670 a owl:Class ; @@ -31405,7 +32146,6 @@ OMIM:138670 a owl:Class ; PMID:3235092, PMID:3458201, PMID:3610142 ; - oboInOwl:hasDbXref UMLS:C1412045 ; oboInOwl:hasExactSynonym "A1BG", "a1b", "abg", @@ -31413,7 +32153,9 @@ OMIM:138670 a owl:Class ; "gab" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1 ; - skos:exactMatch HGNC_symbol:A1BG ; + skos:exactMatch UMLS:C1412045, + HGNC:5, + HGNC_symbol:A1BG ; biolink:category biolink:Gene . OMIM:138680 a owl:Class ; @@ -31445,7 +32187,6 @@ OMIM:138680 a owl:Class ; PMID:9395485 ; RO:0002525 CHR:9606chr3q27.3 ; RO:0003303 OMIM:203650 ; - oboInOwl:hasDbXref UMLS:C1412296 ; oboInOwl:hasExactSynonym "AHSG", "a2hs", "alpha-2-hs-glycoprotein", @@ -31453,7 +32194,9 @@ OMIM:138680 a owl:Class ; "fetuin, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197 ; - skos:exactMatch HGNC_symbol:AHSG ; + skos:exactMatch UMLS:C1412296, + HGNC:349, + HGNC_symbol:AHSG ; biolink:category biolink:Gene . OMIM:138700 a owl:Class ; @@ -31488,7 +32231,6 @@ OMIM:138700 a owl:Class ; PMID:9063752, PMID:9126494, PMID:9225969 ; - oboInOwl:hasDbXref UMLS:C1412484 ; oboInOwl:hasExactSynonym "APOH", "apolipoprotein h", "bg", @@ -31496,13 +32238,15 @@ OMIM:138700 a owl:Class ; "glycoprotein i, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:350 ; - skos:exactMatch HGNC_symbol:APOH ; + skos:exactMatch UMLS:C1412484, + HGNC:616, + HGNC_symbol:APOH ; biolink:category biolink:Gene . OMIM:138710 a owl:Class ; rdfs:label "glycoprotein, renal" ; - oboInOwl:hasDbXref UMLS:C1841864 ; - oboInOwl:hasExactSynonym "glycoprotein, renal" . + oboInOwl:hasExactSynonym "glycoprotein, renal" ; + skos:exactMatch UMLS:C1841864 . OMIM:138720 a owl:Class ; rdfs:label "GP1BB" ; @@ -31519,14 +32263,15 @@ OMIM:138720 a owl:Class ; PMID:9616133 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:231200 ; - oboInOwl:hasDbXref UMLS:C1415187 ; oboInOwl:hasExactSynonym "GP1BB", "glycoprotein ib, platelet, beta polypeptide", "gp ib, beta subunit", "platelet glycoprotein ib, beta polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2812 ; - skos:exactMatch HGNC_symbol:GP1BB ; + skos:exactMatch UMLS:C1415187, + HGNC:4440, + HGNC_symbol:GP1BB ; biolink:category biolink:Gene . OMIM:138750 a owl:Class ; @@ -31561,12 +32306,13 @@ OMIM:138750 a owl:Class ; PMID:939550, PMID:975897, PMID:975931 ; - oboInOwl:hasDbXref UMLS:C1415104 ; oboInOwl:hasExactSynonym "GLO1", "glyoxalase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2739 ; - skos:exactMatch HGNC_symbol:GLO1 ; + skos:exactMatch UMLS:C1415104, + HGNC:4323, + HGNC_symbol:GLO1 ; biolink:category biolink:Gene . OMIM:138760 a owl:Class ; @@ -31579,42 +32325,43 @@ OMIM:138760 a owl:Class ; PMID:8550579 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:614033 ; - oboInOwl:hasDbXref UMLS:C1415464 ; oboInOwl:hasExactSynonym "HAGH", "glyoxalase 2", "hydroxyacyl glutathione hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3029 ; - skos:exactMatch HGNC_symbol:HAGH ; + skos:exactMatch UMLS:C1415464, + HGNC:4805, + HGNC_symbol:HAGH ; biolink:category biolink:Gene . OMIM:138770 a owl:Class ; rdfs:label "gms syndrome" ; IAO:0000142 PMID:1308345 ; - oboInOwl:hasDbXref UMLS:C1841854, - ORPHA:2090 ; oboInOwl:hasExactSynonym "gms syndrome", - "goniodysgenesis--mental retardation--short stature syndrome" . + "goniodysgenesis--mental retardation--short stature syndrome" ; + skos:exactMatch UMLS:C1841854, + ORPHA:2090 . OMIM:138790 a owl:Class ; rdfs:label "goiter, multinodular, cystic renal disease, and digital anomalies" ; IAO:0000142 PMID:4020555 ; - oboInOwl:hasDbXref UMLS:C1841853 ; oboInOwl:hasExactSynonym "goiter, multinodular, cystic renal disease, and digital anomalies", "mng/crd/da", - "multinodular goiter/cystic renal disease/digital anomalies" . + "multinodular goiter/cystic renal disease/digital anomalies" ; + skos:exactMatch UMLS:C1841853 . OMIM:138920 a owl:Class ; rdfs:label "granddad syndrome" ; - oboInOwl:hasDbXref UMLS:C1841836 ; oboInOwl:hasExactSynonym "granddad syndrome", - "growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance" . + "growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance" ; + skos:exactMatch UMLS:C1841836 . OMIM:138930 a owl:Class ; rdfs:label "grant syndrome" ; IAO:0000142 PMID:3742858 ; - oboInOwl:hasDbXref UMLS:C1841835 ; - oboInOwl:hasExactSynonym "grant syndrome" . + oboInOwl:hasExactSynonym "grant syndrome" ; + skos:exactMatch UMLS:C1841835 . OMIM:138945 a owl:Class ; rdfs:label "GRN" ; @@ -31672,11 +32419,6 @@ OMIM:138945 a owl:Class ; PMID:9633693 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:607485 ; - oboInOwl:hasDbXref UMLS:C0282513, - UMLS:C0338451, - UMLS:C1415311, - UMLS:C3539123, - UMLS:C4016134 ; oboInOwl:hasExactSynonym "GRN", "acrogranin", "epithelin precursor", @@ -31690,7 +32432,13 @@ OMIM:138945 a owl:Class ; "progranulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2896 ; - skos:exactMatch HGNC_symbol:GRN ; + skos:exactMatch UMLS:C0282513, + UMLS:C0338451, + UMLS:C1415311, + UMLS:C3539123, + UMLS:C4016134, + HGNC:4601, + HGNC_symbol:GRN ; biolink:category biolink:Gene . OMIM:138960 a owl:Class ; @@ -31715,13 +32463,14 @@ OMIM:138960 a owl:Class ; PMID:8171324, PMID:8202532, PMID:8516290 ; - oboInOwl:hasDbXref UMLS:C1332791 ; oboInOwl:hasExactSynonym "CSF2", "colony-stimulating factor 2", "granulocyte-macrophage colony-stimulating factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1437 ; - skos:exactMatch HGNC_symbol:CSF2 ; + skos:exactMatch UMLS:C1332791, + HGNC:2434, + HGNC_symbol:CSF2 ; biolink:category biolink:Gene . OMIM:138965 a owl:Class ; @@ -31733,14 +32482,15 @@ OMIM:138965 a owl:Class ; PMID:9054580, PMID:9164944, PMID:9465307 ; - oboInOwl:hasDbXref UMLS:C1332820 ; oboInOwl:hasExactSynonym "CXCL6", "chemokine, cxc motif, ligand 6", "granulocyte chemotactic protein 2", "small inducible cytokine subfamily b, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6372 ; - skos:exactMatch HGNC_symbol:CXCL6 ; + skos:exactMatch UMLS:C1332820, + HGNC:10643, + HGNC_symbol:CXCL6 ; biolink:category biolink:Gene . OMIM:138970 a owl:Class ; @@ -31759,13 +32509,14 @@ OMIM:138970 a owl:Class ; PMID:3499671, PMID:3501046, PMID:8562385 ; - oboInOwl:hasDbXref UMLS:C1332793 ; oboInOwl:hasExactSynonym "CSF3", "colony-stimulating factor 3", "granulocyte colony-stimulating factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1440 ; - skos:exactMatch HGNC_symbol:CSF3 ; + skos:exactMatch UMLS:C1332793, + HGNC:2438, + HGNC_symbol:CSF3 ; biolink:category biolink:Gene . OMIM:138971 a owl:Class ; @@ -31790,13 +32541,14 @@ OMIM:138971 a owl:Class ; PMID:9691084 ; RO:0002525 CHR:9606chr1p34.3 ; RO:0003303 OMIM:617014 ; - oboInOwl:hasDbXref UMLS:C1332792 ; oboInOwl:hasExactSynonym "CSF3R", "colony-stimulating factor 3 receptor, granulocyte", "granulocyte colony-stimulating factor receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1441 ; - skos:exactMatch HGNC_symbol:CSF3R ; + skos:exactMatch UMLS:C1332792, + HGNC:2439, + HGNC_symbol:CSF3R ; biolink:category biolink:Gene . OMIM:138972 a owl:Class ; @@ -31807,7 +32559,6 @@ OMIM:138972 a owl:Class ; PMID:2121606, PMID:22437320, PMID:7665092 ; - oboInOwl:hasDbXref UMLS:C1413325 ; oboInOwl:hasExactSynonym "CEBPG", "c/ebp-gamma", "ccaat/enhancer-binding protein, gamma", @@ -31815,7 +32566,9 @@ OMIM:138972 a owl:Class ; "granulocyte colony-stimulating factor promoter element 1-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1054 ; - skos:exactMatch HGNC_symbol:CEBPG ; + skos:exactMatch UMLS:C1413325, + HGNC:1837, + HGNC_symbol:CEBPG ; biolink:category biolink:Gene . OMIM:138981 a owl:Class ; @@ -31840,7 +32593,6 @@ OMIM:138981 a owl:Class ; PMID:9835620 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:614370 ; - oboInOwl:hasDbXref UMLS:C1332790 ; oboInOwl:hasExactSynonym "CSF2RB", "beta-c", "common beta chain", @@ -31849,7 +32601,9 @@ OMIM:138981 a owl:Class ; "interleukin 5 receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1439 ; - skos:exactMatch HGNC_symbol:CSF2RB ; + skos:exactMatch UMLS:C1332790, + HGNC:2436, + HGNC_symbol:CSF2RB ; biolink:category biolink:Gene . OMIM:138990 a owl:Class ; @@ -31860,8 +32614,8 @@ OMIM:139000 a owl:Class ; rdfs:label "granulosis rubra nasi" ; IAO:0000142 PMID:13579258, PMID:20781078 ; - oboInOwl:hasDbXref UMLS:C0263471 ; - oboInOwl:hasExactSynonym "granulosis rubra nasi" . + oboInOwl:hasExactSynonym "granulosis rubra nasi" ; + skos:exactMatch UMLS:C0263471 . OMIM:139080 a owl:Class ; rdfs:label "SLC25A16" ; @@ -31869,14 +32623,15 @@ OMIM:139080 a owl:Class ; PMID:2575220, PMID:28504827, PMID:8444471 ; - oboInOwl:hasDbXref UMLS:C1420157 ; oboInOwl:hasExactSynonym "SLC25A16", "d10s105e", "graves disease autoantigen", "solute carrier family 25 (mitochondrial carrier, graves disease autoantigen), member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8034 ; - skos:exactMatch HGNC_symbol:SLC25A16 ; + skos:exactMatch UMLS:C1420157, + HGNC:10986, + HGNC_symbol:SLC25A16 ; biolink:category biolink:Gene . OMIM:139100 a owl:Class ; @@ -31884,9 +32639,9 @@ OMIM:139100 a owl:Class ; IAO:0000142 PMID:1303241, PMID:15820674, PMID:18573711 ; - oboInOwl:hasDbXref UMLS:C1841809 ; oboInOwl:hasExactSynonym "graying of hair, precocious", "white hair, premature" ; + skos:exactMatch UMLS:C1841809 ; biolink:category biolink:Disease . OMIM:139110 a owl:Class ; @@ -31900,7 +32655,6 @@ OMIM:139110 a owl:Class ; PMID:2643119, PMID:2890161, PMID:8574748 ; - oboInOwl:hasDbXref UMLS:C0812310 ; oboInOwl:hasExactSynonym "CXCL2", "chemokine, cxc motif, ligand 2", "gro protein, beta", @@ -31910,7 +32664,9 @@ OMIM:139110 a owl:Class ; "small inducible cytokine subfamily b, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2920 ; - skos:exactMatch HGNC_symbol:CXCL2 ; + skos:exactMatch UMLS:C0812310, + HGNC:4603, + HGNC_symbol:CXCL2 ; biolink:category biolink:Gene . OMIM:139111 a owl:Class ; @@ -31921,7 +32677,6 @@ OMIM:139111 a owl:Class ; PMID:2217207, PMID:2890161, PMID:8574748 ; - oboInOwl:hasDbXref UMLS:C0812311 ; oboInOwl:hasExactSynonym "CXCL3", "chemokine, cxc motif, ligand 3", "gro protein, gamma", @@ -31930,7 +32685,9 @@ OMIM:139111 a owl:Class ; "small inducible cytokine subfamily B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2921 ; - skos:exactMatch HGNC_symbol:CXCL3 ; + skos:exactMatch UMLS:C0812311, + HGNC:4604, + HGNC_symbol:CXCL3 ; biolink:category biolink:Gene . OMIM:139130 a owl:Class ; @@ -31956,12 +32713,13 @@ OMIM:139130 a owl:Class ; PMID:9425898 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1333689 ; oboInOwl:hasExactSynonym "GNB3", "guanine nucleotide-binding protein, beta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2784 ; - skos:exactMatch HGNC_symbol:GNB3 ; + skos:exactMatch UMLS:C1333689, + HGNC:4400, + HGNC_symbol:GNB3 ; biolink:category biolink:Gene . OMIM:139145 a owl:Class ; @@ -31984,9 +32742,6 @@ OMIM:139150 a owl:Class ; PMID:9989629 ; RO:0002525 CHR:9606chr5q14.3 ; RO:0003303 OMIM:608354 ; - oboInOwl:hasDbXref UMLS:C1419277, - UMLS:C3838465, - UMLS:C4747394 ; oboInOwl:hasExactSynonym "RASA1", "gtpase-activating protein", "guanosine triphosphatase-activating protein", @@ -31994,7 +32749,11 @@ OMIM:139150 a owl:Class ; "ras p21 protein activator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5921 ; - skos:exactMatch HGNC_symbol:RASA1 ; + skos:exactMatch UMLS:C1419277, + UMLS:C3838465, + UMLS:C4747394, + HGNC:9871, + HGNC_symbol:RASA1 ; biolink:category biolink:Gene . OMIM:139160 a owl:Class ; @@ -32003,12 +32762,13 @@ OMIM:139160 a owl:Class ; PMID:2456569, PMID:2902634, PMID:3129724 ; - oboInOwl:hasDbXref UMLS:C1333686 ; oboInOwl:hasExactSynonym "GNAZ", "guanine nucleotide-binding protein, alpha z polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2781 ; - skos:exactMatch HGNC_symbol:GNAZ ; + skos:exactMatch UMLS:C1333686, + HGNC:4395, + HGNC_symbol:GNAZ ; biolink:category biolink:Gene . OMIM:139180 a owl:Class ; @@ -32016,7 +32776,6 @@ OMIM:139180 a owl:Class ; IAO:0000142 PMID:1733849, PMID:2824334, PMID:3094012 ; - oboInOwl:hasDbXref UMLS:C1415143 ; oboInOwl:hasExactSynonym "GNAI2P1", "guanine nucleotide-binding protein, alpha-inhibiting, polypeptide 2 pseudogene 1", "guanine nucleotide-binding protein, alpha-inhibiting, polypeptide-2-like", @@ -32024,7 +32783,9 @@ OMIM:139180 a owl:Class ; "guanine nucleotide-binding protein, polypeptide 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2772 ; - skos:exactMatch HGNC_symbol:GNAI2P1 ; + skos:exactMatch UMLS:C1415143, + HGNC:4386, + HGNC_symbol:GNAI2P1 ; biolink:category biolink:Gene . OMIM:139185 a owl:Class ; @@ -32043,12 +32804,13 @@ OMIM:139185 a owl:Class ; PMID:3409319, PMID:8127893, PMID:8307588 ; - oboInOwl:hasDbXref UMLS:C1414990 ; oboInOwl:hasExactSynonym "GAS1", "growth arrest-specific 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2619 ; - skos:exactMatch HGNC_symbol:GAS1 ; + skos:exactMatch UMLS:C1414990, + HGNC:4165, + HGNC_symbol:GAS1 ; biolink:category biolink:Gene . OMIM:139190 a owl:Class ; @@ -32076,14 +32838,15 @@ OMIM:139190 a owl:Class ; PMID:8421089, PMID:8670892 ; RO:0002525 CHR:9606chr20q11.23 ; - oboInOwl:hasDbXref UMLS:C1333674 ; oboInOwl:hasExactSynonym "GHRH", "growth hormone-releasing factor", "growth hormone-releasing hormone", "somatocrinin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2691 ; - skos:exactMatch HGNC_symbol:GHRH ; + skos:exactMatch UMLS:C1333674, + HGNC:4265, + HGNC_symbol:GHRH ; biolink:category biolink:Gene . OMIM:139191 a owl:Class ; @@ -32113,13 +32876,14 @@ OMIM:139191 a owl:Class ; PMID:9814493 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:618157 ; - oboInOwl:hasDbXref UMLS:C1415064 ; oboInOwl:hasExactSynonym "GHRHR", "growth hormone-releasing factor receptor", "growth hormone-releasing hormone receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2692 ; - skos:exactMatch HGNC_symbol:GHRHR ; + skos:exactMatch UMLS:C1415064, + HGNC:4266, + HGNC_symbol:GHRHR ; biolink:category biolink:Gene . OMIM:139200 a owl:Class ; @@ -32179,14 +32943,15 @@ OMIM:139200 a owl:Class ; PMID:8381387, PMID:89072, PMID:9709981 ; - oboInOwl:hasDbXref UMLS:C1367452 ; oboInOwl:hasExactSynonym "GC", "group-specific component", "vitamin d-binding alpha-globulin", "vitamin d-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2638 ; - skos:exactMatch HGNC_symbol:GC ; + skos:exactMatch UMLS:C1367452, + HGNC:4187, + HGNC_symbol:GC ; biolink:category biolink:Gene . OMIM:139220 a owl:Class ; @@ -32208,7 +32973,6 @@ OMIM:139240 a owl:Class ; PMID:7169009, PMID:7384802, PMID:9709963 ; - oboInOwl:hasDbXref UMLS:C1415062 ; oboInOwl:hasExactSynonym "GH2", "growth hormone 2", "growth hormone, placental", @@ -32216,7 +32980,9 @@ OMIM:139240 a owl:Class ; "growth hormone-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2689 ; - skos:exactMatch HGNC_symbol:GH2 ; + skos:exactMatch UMLS:C1415062, + HGNC:4262, + HGNC_symbol:GH2 ; biolink:category biolink:Gene . OMIM:139250 a owl:Class ; @@ -32292,7 +33058,6 @@ OMIM:139250 a owl:Class ; PMID:9700205 ; RO:0002525 CHR:9606chr17q23.3 ; RO:0003303 OMIM:262650 ; - oboInOwl:hasDbXref UMLS:C1333673 ; oboInOwl:hasExactSynonym "GH1", "gh", "growth hormone 1", @@ -32300,21 +33065,24 @@ OMIM:139250 a owl:Class ; "growth hormone, pituitary" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2688 ; - skos:exactMatch HGNC_symbol:GH1 ; + skos:exactMatch UMLS:C1333673, + HGNC:4261, + HGNC_symbol:GH1 ; biolink:category biolink:Gene . OMIM:139255 a owl:Class ; rdfs:label "MT3" ; IAO:0000142 PMID:1464312, PMID:1873033 ; - oboInOwl:hasDbXref UMLS:C1334534 ; oboInOwl:hasExactSynonym "MT3", "growth inhibitory factor, brain", "growth inhibitory factor, neurotrophic", "metallothionein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4504 ; - skos:exactMatch HGNC_symbol:MT3 ; + skos:exactMatch UMLS:C1334534, + HGNC:7408, + HGNC_symbol:MT3 ; biolink:category biolink:Gene . OMIM:139259 a owl:Class ; @@ -32326,7 +33094,6 @@ OMIM:139259 a owl:Class ; PMID:2841115, PMID:9154815, PMID:9712840 ; - oboInOwl:hasDbXref UMLS:C1415324 ; oboInOwl:hasExactSynonym "GSPT1", "etf3a", "g1- to s-phase transition 1", @@ -32334,7 +33101,9 @@ OMIM:139259 a owl:Class ; "peptide chain release factor 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2935 ; - skos:exactMatch HGNC_symbol:GSPT1 ; + skos:exactMatch UMLS:C1415324, + HGNC:4621, + HGNC_symbol:GSPT1 ; biolink:category biolink:Gene . OMIM:139265 a owl:Class ; @@ -32349,15 +33118,16 @@ OMIM:139265 a owl:Class ; PMID:2758468, PMID:31600844, PMID:8188226 ; - oboInOwl:hasDbXref UMLS:C1415135, - UMLS:C4016138 ; oboInOwl:hasExactSynonym "GMPR", "gmp reductase", "guanosine monophosphate reductase", "guanosine monophosphate reductase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2766 ; - skos:exactMatch HGNC_symbol:GMPR ; + skos:exactMatch UMLS:C1415135, + UMLS:C4016138, + HGNC:4376, + HGNC_symbol:GMPR ; biolink:category biolink:Gene . OMIM:139270 a owl:Class ; @@ -32366,23 +33136,24 @@ OMIM:139270 a owl:Class ; PMID:6249178, PMID:8647247, PMID:8663313 ; - oboInOwl:hasDbXref UMLS:C1415367 ; oboInOwl:hasExactSynonym "GUK1", "atp:gmp phosphotransferase", "gmp kinase", "guanylate kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2987 ; - skos:exactMatch HGNC_symbol:GUK1 ; + skos:exactMatch UMLS:C1415367, + HGNC:4693, + HGNC_symbol:GUK1 ; biolink:category biolink:Gene . OMIM:139290 a owl:Class ; rdfs:label "guanylate kinase 3" ; IAO:0000142 PMID:177353, PMID:201245 ; - oboInOwl:hasDbXref UMLS:C1841763 ; oboInOwl:hasExactSynonym "GUK3", - "guanylate kinase 3" . + "guanylate kinase 3" ; + skos:exactMatch UMLS:C1841763 . OMIM:139310 a owl:Class ; rdfs:label "GNAI1" ; @@ -32396,7 +33167,6 @@ OMIM:139310 a owl:Class ; PMID:3110783, PMID:3130752, PMID:9582306 ; - oboInOwl:hasDbXref UMLS:C1415142 ; oboInOwl:hasExactSynonym "GNAI1", "adenylate cyclase inhibitory protein", "g protein, alpha-inhibiting 1", @@ -32404,7 +33174,9 @@ OMIM:139310 a owl:Class ; "inhibitory g protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2770 ; - skos:exactMatch HGNC_symbol:GNAI1 ; + skos:exactMatch UMLS:C1415142, + HGNC:4384, + HGNC_symbol:GNAI1 ; biolink:category biolink:Gene . OMIM:139311 a owl:Class ; @@ -32430,9 +33202,6 @@ OMIM:139311 a owl:Class ; PMID:9582306 ; RO:0002525 CHR:9606chr16q13 ; RO:0003303 OMIM:617493 ; - oboInOwl:hasDbXref UMLS:C1415146, - UMLS:C3809606, - UMLS:C4479569 ; oboInOwl:hasExactSynonym "GNAO1", "g-alpha-o", "go, alpha subunit", @@ -32440,7 +33209,11 @@ OMIM:139311 a owl:Class ; "guanine nucleotide-binding protein, alpha-activating activity polypeptide o" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2775 ; - skos:exactMatch HGNC_symbol:GNAO1 ; + skos:exactMatch UMLS:C1415146, + UMLS:C3809606, + UMLS:C4479569, + HGNC:4389, + HGNC_symbol:GNAO1 ; biolink:category biolink:Gene . OMIM:139312 a owl:Class ; @@ -32463,13 +33236,14 @@ OMIM:139312 a owl:Class ; PMID:9758604 ; RO:0002525 CHR:9606chr18p11.21 ; RO:0003303 OMIM:615073 ; - oboInOwl:hasDbXref UMLS:C1415145 ; oboInOwl:hasExactSynonym "GNAL", "g-alpha-olf", "guanine nucleotide-binding protein, alpha-activating activity polypeptide, olfactory iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2774 ; - skos:exactMatch HGNC_symbol:GNAL ; + skos:exactMatch UMLS:C1415145, + HGNC:4388, + HGNC_symbol:GNAL ; biolink:category biolink:Gene . OMIM:139313 a owl:Class ; @@ -32492,14 +33266,15 @@ OMIM:139313 a owl:Class ; PMID:9687499 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:145981 ; - oboInOwl:hasDbXref UMLS:C1415138, - UMLS:C1840347, - UMLS:C3809243 ; oboInOwl:hasExactSynonym "GNA11", "guanine nucleotide-binding protein, alpha-11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2767 ; - skos:exactMatch HGNC_symbol:GNA11 ; + skos:exactMatch UMLS:C1415138, + UMLS:C1840347, + UMLS:C3809243, + HGNC:4379, + HGNC_symbol:GNA11 ; biolink:category biolink:Gene . OMIM:139314 a owl:Class ; @@ -32507,13 +33282,14 @@ OMIM:139314 a owl:Class ; IAO:0000142 PMID:12401211, PMID:1302014, PMID:7797501 ; - oboInOwl:hasDbXref UMLS:C1415141 ; oboInOwl:hasExactSynonym "GNA15", "gna16, formerly", "guanine nucleotide-binding protein, alpha-15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2769 ; - skos:exactMatch HGNC_symbol:GNA15 ; + skos:exactMatch UMLS:C1415141, + HGNC:4383, + HGNC_symbol:GNA15 ; biolink:category biolink:Gene . OMIM:139320 a owl:Class ; @@ -32631,7 +33407,6 @@ OMIM:139320 a owl:Class ; PMID:9876352 ; RO:0002525 CHR:9606chr20q13.32 ; RO:0003303 OMIM:612463 ; - oboInOwl:hasDbXref UMLS:C1366550 ; oboInOwl:hasExactSynonym "GNAS", "a/b transcript", "adenylate cyclase stimulatory protein, alpha subunit", @@ -32646,7 +33421,9 @@ OMIM:139320 a owl:Class ; "xl-alpha-s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2778 ; - skos:exactMatch HGNC_symbol:GNAS ; + skos:exactMatch UMLS:C1366550, + HGNC:4392, + HGNC_symbol:GNAS ; biolink:category biolink:Gene . OMIM:139330 a owl:Class ; @@ -32670,14 +33447,15 @@ OMIM:139330 a owl:Class ; PMID:8673138 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:616389 ; - oboInOwl:hasDbXref UMLS:C1415148 ; oboInOwl:hasExactSynonym "GNAT1", "g protein, alpha-transducing 1", "guanine nucleotide-binding protein, alpha-transducing activity polypeptide 1", "transducin, rod-specific, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2779 ; - skos:exactMatch HGNC_symbol:GNAT1 ; + skos:exactMatch UMLS:C1415148, + HGNC:4393, + HGNC_symbol:GNAT1 ; biolink:category biolink:Gene . OMIM:139340 a owl:Class ; @@ -32692,14 +33470,15 @@ OMIM:139340 a owl:Class ; PMID:8406495 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:613856 ; - oboInOwl:hasDbXref UMLS:C1415149 ; oboInOwl:hasExactSynonym "GNAT2", "g protein, alpha-transducing 2", "guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2", "transducin, cone-specific, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2780 ; - skos:exactMatch HGNC_symbol:GNAT2 ; + skos:exactMatch UMLS:C1415149, + HGNC:4394, + HGNC_symbol:GNAT2 ; biolink:category biolink:Gene . OMIM:139350 a owl:Class ; @@ -32729,7 +33508,6 @@ OMIM:139350 a owl:Class ; PMID:7678607 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:600962 ; - oboInOwl:hasDbXref UMLS:C1416713 ; oboInOwl:hasExactSynonym "KRT1", "cytokeratin 1", "k1", @@ -32737,7 +33515,9 @@ OMIM:139350 a owl:Class ; "keratin 1, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3848 ; - skos:exactMatch HGNC_symbol:KRT1 ; + skos:exactMatch UMLS:C1416713, + HGNC:6412, + HGNC_symbol:KRT1 ; biolink:category biolink:Gene . OMIM:139360 a owl:Class ; @@ -32754,13 +33534,14 @@ OMIM:139360 a owl:Class ; PMID:9637720 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:192605 ; - oboInOwl:hasDbXref UMLS:C1366857 ; oboInOwl:hasExactSynonym "GNAI2", "g protein, alpha-inhibiting 2b", "guanine nucleotide-binding protein, alpha-inhibiting activity polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2771 ; - skos:exactMatch HGNC_symbol:GNAI2 ; + skos:exactMatch UMLS:C1366857, + HGNC:4385, + HGNC_symbol:GNAI2 ; biolink:category biolink:Gene . OMIM:139370 a owl:Class ; @@ -32775,13 +33556,14 @@ OMIM:139370 a owl:Class ; PMID:7698751 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:602483 ; - oboInOwl:hasDbXref UMLS:C1415144 ; oboInOwl:hasExactSynonym "GNAI3", "g protein, alpha-inhibiting 3", "guanine nucleotide-binding protein, alpha-inhibiting activity polypeptide 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2773 ; - skos:exactMatch HGNC_symbol:GNAI3 ; + skos:exactMatch UMLS:C1415144, + HGNC:4387, + HGNC_symbol:GNAI3 ; biolink:category biolink:Gene . OMIM:139390 a owl:Class ; @@ -32795,12 +33577,13 @@ OMIM:139390 a owl:Class ; PMID:3114742 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:619503 ; - oboInOwl:hasDbXref UMLS:C1333688 ; oboInOwl:hasExactSynonym "GNB2", "guanine nucleotide-binding protein, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2783 ; - skos:exactMatch HGNC_symbol:GNB2 ; + skos:exactMatch UMLS:C1333688, + HGNC:4398, + HGNC_symbol:GNB2 ; biolink:category biolink:Gene . OMIM:139392 a owl:Class ; @@ -32810,7 +33593,6 @@ OMIM:139392 a owl:Class ; PMID:1409606, PMID:7601480, PMID:7892222 ; - oboInOwl:hasDbXref UMLS:C1415357 ; oboInOwl:hasExactSynonym "GUCA2A", "guanylate cyclase activator 2a", "guanylin", @@ -32818,7 +33600,9 @@ OMIM:139392 a owl:Class ; "guca2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2980 ; - skos:exactMatch HGNC_symbol:GUCA2A ; + skos:exactMatch UMLS:C1415357, + HGNC:4682, + HGNC_symbol:GUCA2A ; biolink:category biolink:Gene . OMIM:139393 a owl:Class ; @@ -32836,13 +33620,13 @@ OMIM:139393 a owl:Class ; PMID:4165426, PMID:7815216, PMID:9818939 ; - oboInOwl:hasDbXref UMLS:C0393819, - UMLS:C4083008, - UMLS:C4551910 ; oboInOwl:hasExactSynonym "GBS", "guillain-barre syndrome, familial", "polyneuropathy, inflammatory demyelinating, acute", "polyneuropathy, inflammatory demyelinating, chronic" ; + skos:exactMatch UMLS:C0393819, + UMLS:C4083008, + UMLS:C4551910 ; biolink:category biolink:Disease . OMIM:139395 a owl:Class ; @@ -32856,7 +33640,6 @@ OMIM:139395 a owl:Class ; PMID:8015379, PMID:8657284, PMID:9246446 ; - oboInOwl:hasDbXref UMLS:C1427774 ; oboInOwl:hasExactSynonym "GNAT3", "gdca", "guanine nucleotide-binding protein, alpha-transducing activity polypeptide 3", @@ -32864,7 +33647,9 @@ OMIM:139395 a owl:Class ; "gustducin, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:346562 ; - skos:exactMatch HGNC_symbol:GNAT3 ; + skos:exactMatch UMLS:C1427774, + HGNC:22800, + HGNC_symbol:GNAT3 ; biolink:category biolink:Gene . OMIM:139396 a owl:Class ; @@ -32880,7 +33665,6 @@ OMIM:139396 a owl:Class ; PMID:9742212 ; RO:0002525 CHR:9606chr4q32.1 ; RO:0003303 OMIM:615750 ; - oboInOwl:hasDbXref UMLS:C1415360 ; oboInOwl:hasExactSynonym "GUCY1A3", "guanylate cyclase 1, soluble, alpha-3", "guanylate cyclase, soluble, alpha-1", @@ -32890,7 +33674,9 @@ OMIM:139396 a owl:Class ; "nogc, alpha-1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2982 ; - skos:exactMatch HGNC_symbol:GUCY1A1 ; + skos:exactMatch UMLS:C1415360, + HGNC:4685, + HGNC_symbol:GUCY1A1 ; biolink:category biolink:Gene . OMIM:139397 a owl:Class ; @@ -32901,7 +33687,6 @@ OMIM:139397 a owl:Class ; PMID:17452643, PMID:8097486, PMID:9742212 ; - oboInOwl:hasDbXref UMLS:C1415362 ; oboInOwl:hasExactSynonym "GUCY1B3", "guanylate cyclase 1, soluble, beta-3", "guanylate cyclase, soluble, beta-1", @@ -32911,7 +33696,9 @@ OMIM:139397 a owl:Class ; "nogc, beta-1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2983 ; - skos:exactMatch HGNC_symbol:GUCY1B1 ; + skos:exactMatch UMLS:C1415362, + HGNC:4687, + HGNC_symbol:GUCY1B1 ; biolink:category biolink:Gene . OMIM:139400 a owl:Class ; @@ -32920,11 +33707,11 @@ OMIM:139400 a owl:Class ; PMID:15169958, PMID:3454518, PMID:4017279 ; - oboInOwl:hasDbXref UMLS:C1185616, - UMLS:C1841698 ; oboInOwl:hasExactSynonym "cowlick", "double hair whorl", - "hair whorl" . + "hair whorl" ; + skos:exactMatch UMLS:C1185616, + UMLS:C1841698 . OMIM:139500 a owl:Class ; rdfs:label "hairy ears" ; @@ -32934,9 +33721,9 @@ OMIM:139500 a owl:Class ; PMID:2364572, PMID:5831855, PMID:5860212 ; - oboInOwl:hasDbXref UMLS:C0263482 ; oboInOwl:hasExactSynonym "hairy ears", - "hypertrichosis pinnae auris" . + "hypertrichosis pinnae auris" ; + skos:exactMatch UMLS:C0263482 . OMIM:139600 a owl:Class ; rdfs:label "hairy elbows" ; @@ -32946,9 +33733,9 @@ OMIM:139600 a owl:Class ; PMID:453885, PMID:5519603, PMID:8624162 ; - oboInOwl:hasDbXref UMLS:C4025295 ; oboInOwl:hasExactSynonym "hairy elbows", "hypertrichosis cubiti" ; + skos:exactMatch UMLS:C4025295 ; biolink:category biolink:Disease . OMIM:139605 a owl:Class ; @@ -32966,35 +33753,36 @@ OMIM:139605 a owl:Class ; PMID:24179156, PMID:8020957, PMID:9745030 ; - oboInOwl:hasDbXref UMLS:C1415725 ; oboInOwl:hasExactSynonym "HES1", "hairy, drosophila, homolog of", "hairy/enhancer of split, drosophila, homolog of, 1", "hes family bhlh transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3280 ; - skos:exactMatch HGNC_symbol:HES1 ; + skos:exactMatch UMLS:C1415725, + HGNC:5192, + HGNC_symbol:HES1 ; biolink:category biolink:Gene . OMIM:139630 a owl:Class ; rdfs:label "hairy nose tip" ; IAO:0000142 PMID:7405958 ; - oboInOwl:hasDbXref UMLS:C1841695 ; - oboInOwl:hasExactSynonym "hairy nose tip" . + oboInOwl:hasExactSynonym "hairy nose tip" ; + skos:exactMatch UMLS:C1841695 . OMIM:139650 a owl:Class ; rdfs:label "hairy palms and soles" ; IAO:0000142 PMID:810092 ; - oboInOwl:hasDbXref UMLS:C1841694 ; oboInOwl:hasExactSynonym "circumscribed hairy dysembryoplasia of palms", "hairy palms and soles" ; + skos:exactMatch UMLS:C1841694 ; biolink:category biolink:Disease . OMIM:139750 a owl:Class ; rdfs:label "hand and foot deformity with flat facies" ; IAO:0000142 PMID:5501704 ; - oboInOwl:hasDbXref UMLS:C1841693 ; - oboInOwl:hasExactSynonym "hand and foot deformity with flat facies" . + oboInOwl:hasExactSynonym "hand and foot deformity with flat facies" ; + skos:exactMatch UMLS:C1841693 . OMIM:139800 a owl:Class ; rdfs:label "hand clasping pattern" ; @@ -33003,8 +33791,8 @@ OMIM:139800 a owl:Class ; PMID:4461659, PMID:5836191, PMID:9974082 ; - oboInOwl:hasDbXref UMLS:C1841692 ; - oboInOwl:hasExactSynonym "hand clasping pattern" . + oboInOwl:hasExactSynonym "hand clasping pattern" ; + skos:exactMatch UMLS:C1841692 . OMIM:140050 a owl:Class ; rdfs:label "GZMA" ; @@ -33020,7 +33808,6 @@ OMIM:140050 a owl:Class ; PMID:3555842, PMID:8039831, PMID:8288245 ; - oboInOwl:hasDbXref UMLS:C1415379 ; oboInOwl:hasExactSynonym "GZMA", "cytolytic t cell- and natural killer cell-specific trypsin-like serine protease", "cytotoxic t-lymphocyte-associated serine esterase 3", @@ -33028,7 +33815,9 @@ OMIM:140050 a owl:Class ; "hanukah factor serine protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3001 ; - skos:exactMatch HGNC_symbol:GZMA ; + skos:exactMatch UMLS:C1415379, + HGNC:4708, + HGNC_symbol:GZMA ; biolink:category biolink:Gene . OMIM:140090 a owl:Class ; @@ -33097,7 +33886,6 @@ OMIM:140100 a owl:Class ; PMID:9463309 ; RO:0002525 CHR:9606chr16q22.2 ; RO:0003303 OMIM:614081 ; - oboInOwl:hasDbXref UMLS:C1415692 ; oboInOwl:hasExactSynonym "HP", "bp", "haptoglobin", @@ -33105,7 +33893,9 @@ OMIM:140100 a owl:Class ; "haptoglobin, beta polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3240 ; - skos:exactMatch HGNC_symbol:HP ; + skos:exactMatch UMLS:C1415692, + HGNC:5141, + HGNC_symbol:HP ; biolink:category biolink:Gene . OMIM:140210 a owl:Class ; @@ -33123,12 +33913,13 @@ OMIM:140210 a owl:Class ; PMID:3170608, PMID:4018023, PMID:7716520 ; - oboInOwl:hasDbXref UMLS:C1337105 ; oboInOwl:hasExactSynonym "HPR", "haptoglobin-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3250 ; - skos:exactMatch HGNC_symbol:HPR ; + skos:exactMatch UMLS:C1337105, + HGNC:5156, + HGNC_symbol:HPR ; biolink:category biolink:Gene . OMIM:140340 a owl:Class ; @@ -33146,25 +33937,25 @@ OMIM:140350 a owl:Class ; PMID:30984715, PMID:7278885, PMID:858207 ; - oboInOwl:hasDbXref UMLS:C2931042, - ORPHA:2118 ; oboInOwl:hasExactSynonym "HWKS", "hawkinsinuria" ; + skos:exactMatch UMLS:C2931042, + ORPHA:2118 ; biolink:category biolink:Disease . OMIM:140450 a owl:Class ; rdfs:label "heart-hand syndrome, spanish iia" ; IAO:0000142 PMID:7450756 ; - oboInOwl:hasDbXref UMLS:C1841657 ; - oboInOwl:hasExactSynonym "heart-hand syndrome, spanish iia" . + oboInOwl:hasExactSynonym "heart-hand syndrome, spanish iia" ; + skos:exactMatch UMLS:C1841657 . OMIM:140500 a owl:Class ; rdfs:label "heart, malformation of" ; IAO:0000142 PMID:13725809, PMID:5111755, PMID:5538414 ; - oboInOwl:hasDbXref UMLS:C0018798 ; - oboInOwl:hasExactSynonym "heart, malformation of" . + oboInOwl:hasExactSynonym "heart, malformation of" ; + skos:exactMatch UMLS:C0018798 . OMIM:140555 a owl:Class ; rdfs:label "HSPA6" ; @@ -33173,13 +33964,14 @@ OMIM:140555 a owl:Class ; PMID:1346391, PMID:1478667, PMID:2327978 ; - oboInOwl:hasDbXref UMLS:C1415762 ; oboInOwl:hasExactSynonym "HSPA6", "heat-shock 70-kd protein 6", "hsp70b-prime" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3310 ; - skos:exactMatch HGNC_symbol:HSPA6 ; + skos:exactMatch UMLS:C1415762, + HGNC:5239, + HGNC_symbol:HSPA6 ; biolink:category biolink:Gene . OMIM:140556 a owl:Class ; @@ -33191,14 +33983,15 @@ OMIM:140556 a owl:Class ; PMID:2327978, PMID:3184191, PMID:3927293 ; - oboInOwl:hasDbXref UMLS:C1415763 ; oboInOwl:hasExactSynonym "HSPA7", "heat-shock 70-kd protein 7", "heat-shock protein family a (hsp70), member 7, pseudogene", "hsp70b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3311 ; - skos:exactMatch HGNC_symbol:HSPA7 ; + skos:exactMatch UMLS:C1415763, + HGNC:5240, + HGNC_symbol:HSPA7 ; biolink:category biolink:Gene . OMIM:140559 a owl:Class ; @@ -33211,7 +34004,6 @@ OMIM:140559 a owl:Class ; PMID:17591867, PMID:24270810, PMID:2538825 ; - oboInOwl:hasDbXref UMLS:C1415757 ; oboInOwl:hasExactSynonym "HSPA1L", "heat-shock 70-kd protein-like 1", "heat-shock protein, 70-kd, homologous", @@ -33220,7 +34012,9 @@ OMIM:140559 a owl:Class ; "hsp70t" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3305 ; - skos:exactMatch HGNC_symbol:HSPA1L ; + skos:exactMatch UMLS:C1415757, + HGNC:5234, + HGNC_symbol:HSPA1L ; biolink:category biolink:Gene . OMIM:140560 a owl:Class ; @@ -33233,7 +34027,6 @@ OMIM:140560 a owl:Class ; PMID:7849706, PMID:8486356, PMID:8622925 ; - oboInOwl:hasDbXref UMLS:C1415758 ; oboInOwl:hasExactSynonym "HSPA2", "heat-shock 70-kd protein 2", "heat-shock protein, 70-kd, 2", @@ -33242,7 +34035,9 @@ OMIM:140560 a owl:Class ; "hsp70-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3306 ; - skos:exactMatch HGNC_symbol:HSPA2 ; + skos:exactMatch UMLS:C1415758, + HGNC:5235, + HGNC_symbol:HSPA2 ; biolink:category biolink:Gene . OMIM:140570 a owl:Class ; @@ -33256,7 +34051,6 @@ OMIM:140572 a owl:Class ; PMID:2768249, PMID:8180474, PMID:8288256 ; - oboInOwl:hasDbXref UMLS:C1825540 ; oboInOwl:hasExactSynonym "HSP90AB1", "heat-shock 90-kd protein 1, beta, formerly", "heat-shock protein, 90-kd, alpha, class b, member 1", @@ -33264,7 +34058,9 @@ OMIM:140572 a owl:Class ; "hspc2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3326 ; - skos:exactMatch HGNC_symbol:HSP90AB1 ; + skos:exactMatch UMLS:C1825540, + HGNC:5258, + HGNC_symbol:HSP90AB1 ; biolink:category biolink:Gene . OMIM:140573 a owl:Class ; @@ -33279,13 +34075,14 @@ OMIM:140575 a owl:Class ; rdfs:label "HSP90AA2" ; IAO:0000142 PMID:16269234, PMID:1740332 ; - oboInOwl:hasDbXref UMLS:C1825535 ; oboInOwl:hasExactSynonym "HSP90AA2", "heat-shock 90-kd protein 1, alpha-like 3, formerly", "heat-shock protein, 90-kd, alpha, class a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3324 ; - skos:exactMatch HGNC_symbol:HSP90AA2P ; + skos:exactMatch UMLS:C1825535, + HGNC:5256, + HGNC_symbol:HSP90AA2P ; biolink:category biolink:Gene . OMIM:140576 a owl:Class ; @@ -33309,13 +34106,14 @@ OMIM:140580 a owl:Class ; PMID:25324391, PMID:9727490, PMID:9829985 ; - oboInOwl:hasDbXref UMLS:C1415749 ; oboInOwl:hasExactSynonym "HSF1", "heat-shock factor 1", "heat-shock transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3297 ; - skos:exactMatch HGNC_symbol:HSF1 ; + skos:exactMatch UMLS:C1415749, + HGNC:5224, + HGNC_symbol:HSF1 ; biolink:category biolink:Gene . OMIM:140581 a owl:Class ; @@ -33324,13 +34122,14 @@ OMIM:140581 a owl:Class ; PMID:15662014, PMID:1871106, PMID:23064888 ; - oboInOwl:hasDbXref UMLS:C1415750 ; oboInOwl:hasExactSynonym "HSF2", "heat-shock factor 2", "heat-shock transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3298 ; - skos:exactMatch HGNC_symbol:HSF2 ; + skos:exactMatch UMLS:C1415750, + HGNC:5225, + HGNC_symbol:HSF2 ; biolink:category biolink:Gene . OMIM:140700 a owl:Class ; @@ -33338,8 +34137,8 @@ OMIM:140700 a owl:Class ; IAO:0000142 PMID:14184033, PMID:3997544, PMID:8704193 ; - oboInOwl:hasDbXref UMLS:C0700299 ; oboInOwl:hasExactSynonym "heinz body anemias" ; + skos:exactMatch UMLS:C0700299 ; biolink:category biolink:Disease . OMIM:140750 a owl:Class ; @@ -33349,13 +34148,14 @@ OMIM:140750 a owl:Class ; PMID:1390339, PMID:19843505, PMID:6934067 ; - oboInOwl:hasDbXref UMLS:C0812376 ; oboInOwl:hasExactSynonym "ST5", "hela tumor suppression", "suppressor of tumorigenicity 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6764 ; - skos:exactMatch HGNC_symbol:DENND2B ; + skos:exactMatch UMLS:C0812376, + HGNC:11350, + HGNC_symbol:DENND2B ; biolink:category biolink:Gene . OMIM:140850 a owl:Class ; @@ -33365,16 +34165,16 @@ OMIM:140850 a owl:Class ; PMID:3978856, PMID:6460929, PMID:7801997 ; - oboInOwl:hasDbXref UMLS:C0472694 ; oboInOwl:hasExactSynonym "hemangiomas, cavernous, of face and supraumbilical midline raphe", "raphe, supraumbilical midline, with cavernous facial hemangiomas", - "sternal nonunion with supraumbilical raphe" . + "sternal nonunion with supraumbilical raphe" ; + skos:exactMatch UMLS:C0472694 . OMIM:140900 a owl:Class ; rdfs:label "hemangiomas of small intestine" ; IAO:0000142 PMID:13796380 ; - oboInOwl:hasDbXref UMLS:C1841654 ; - oboInOwl:hasExactSynonym "hemangiomas of small intestine" . + oboInOwl:hasExactSynonym "hemangiomas of small intestine" ; + skos:exactMatch UMLS:C1841654 . OMIM:141000 a owl:Class ; rdfs:label "hemangioma-thrombocytopenia syndrome" ; @@ -33388,9 +34188,9 @@ OMIM:141000 a owl:Class ; PMID:6660888, PMID:9108863, PMID:9526357 ; - oboInOwl:hasDbXref UMLS:C0221025 ; oboInOwl:hasExactSynonym "hemangioma-thrombocytopenia syndrome", - "kasabach-merritt syndrome" . + "kasabach-merritt syndrome" ; + skos:exactMatch UMLS:C0221025 . OMIM:141180 a owl:Class ; rdfs:label "NCKAP1L" ; @@ -33400,15 +34200,16 @@ OMIM:141180 a owl:Class ; PMID:32647003 ; RO:0002525 CHR:9606chr12q13.13-q13.2 ; RO:0003303 OMIM:618982 ; - oboInOwl:hasDbXref UMLS:C1826388, - UMLS:C5436540 ; oboInOwl:hasExactSynonym "NCKAP1L", "hematopoietic protein hem-1", "nck-associated protein 1-like", "nckap1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3071 ; - skos:exactMatch HGNC_symbol:NCKAP1L ; + skos:exactMatch UMLS:C1826388, + UMLS:C5436540, + HGNC:4862, + HGNC_symbol:NCKAP1L ; biolink:category biolink:Gene . OMIM:141250 a owl:Class ; @@ -33435,14 +34236,15 @@ OMIM:141250 a owl:Class ; PMID:9884342 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:606963 ; - oboInOwl:hasDbXref UMLS:C1415619 ; oboInOwl:hasExactSynonym "HMOX1", "heat shock protein, 32-kd", "heme oxygenase 1", "hemoxygenase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3162 ; - skos:exactMatch HGNC_symbol:HMOX1 ; + skos:exactMatch UMLS:C1415619, + HGNC:5013, + HGNC_symbol:HMOX1 ; biolink:category biolink:Gene . OMIM:141251 a owl:Class ; @@ -33454,13 +34256,14 @@ OMIM:141251 a owl:Class ; PMID:8570637, PMID:9284910, PMID:9486970 ; - oboInOwl:hasDbXref UMLS:C1415620 ; oboInOwl:hasExactSynonym "HMOX2", "heme oxygenase 2", "hemoxygenase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3163 ; - skos:exactMatch HGNC_symbol:HMOX2 ; + skos:exactMatch UMLS:C1415620, + HGNC:5014, + HGNC_symbol:HMOX2 ; biolink:category biolink:Gene . OMIM:141300 a owl:Class ; @@ -33475,19 +34278,19 @@ OMIM:141300 a owl:Class ; PMID:6737396, PMID:8410030, PMID:9109892 ; - oboInOwl:hasDbXref UMLS:C0015458 ; oboInOwl:hasExactSynonym "HFA", "hemifacial atrophy, progressive", "parry-romberg syndrome" ; + skos:exactMatch UMLS:C0015458 ; biolink:category biolink:Disease . OMIM:141350 a owl:Class ; rdfs:label "hemifacial hyperplasia with strabismus" ; IAO:0000142 PMID:4511798, PMID:519901 ; - oboInOwl:hasDbXref UMLS:C1841640 ; oboInOwl:hasExactSynonym "bencze syndrome", "hemifacial hyperplasia with strabismus" ; + skos:exactMatch UMLS:C1841640 ; biolink:category biolink:Disease . OMIM:141405 a owl:Class ; @@ -33498,8 +34301,8 @@ OMIM:141405 a owl:Class ; PMID:20254516, PMID:2302111, PMID:2779592 ; - oboInOwl:hasDbXref UMLS:C1841639 ; - oboInOwl:hasExactSynonym "hemifacial spasm, familial" . + oboInOwl:hasExactSynonym "hemifacial spasm, familial" ; + skos:exactMatch UMLS:C1841639 . OMIM:141500 a owl:Class ; rdfs:label "migraine, familial hemiplegic, 1" ; @@ -33531,8 +34334,6 @@ OMIM:141500 a owl:Class ; PMID:8898206, PMID:9708761, PMID:9915947 ; - oboInOwl:hasDbXref UMLS:C1832884, - ORPHA:569 ; oboInOwl:hasExactSynonym "FHM1", "fhm", "mhp1", @@ -33540,13 +34341,15 @@ OMIM:141500 a owl:Class ; "migraine, familial hemiplegic, 1", "migraine, sporadic hemiplegic" ; rdfs:subClassOf OMIMPS:141500 ; + skos:exactMatch UMLS:C1832884, + ORPHA:569 ; biolink:category biolink:Disease . OMIM:141700 a owl:Class ; rdfs:label "hemolytic poikilocytic anemia due to reduced ankyrin binding sites" ; IAO:0000142 PMID:6459341 ; - oboInOwl:hasDbXref UMLS:C1841622 ; - oboInOwl:hasExactSynonym "hemolytic poikilocytic anemia due to reduced ankyrin binding sites" . + oboInOwl:hasExactSynonym "hemolytic poikilocytic anemia due to reduced ankyrin binding sites" ; + skos:exactMatch UMLS:C1841622 . OMIM:141750 a owl:Class ; rdfs:label "alpha-thalassemia/mental retardation syndrome, chromosome 16-related" ; @@ -33569,7 +34372,6 @@ OMIM:141750 a owl:Class ; PMID:9138156, PMID:9375730 ; RO:0002525 CHR:9606chr16pter-p13.3 ; - oboInOwl:hasDbXref UMLS:C0795917 ; oboInOwl:hasExactSynonym "alpha-thalassemia/mental retardation syndrome, chromosome 16-related", "alpha-thalassemia/mental retardation syndrome, deletion-type", "atr, deletion-type", @@ -33577,6 +34379,7 @@ OMIM:141750 a owl:Class ; "chromosome 16p deletion syndrome", "hemoglobin h-related mental retardation", "mental retardation with hemoglobin h" ; + skos:exactMatch UMLS:C0795917 ; biolink:category biolink:Disease . OMIM:141800 a owl:Class ; @@ -33968,14 +34771,15 @@ OMIM:141800 a owl:Class ; PMID:999899 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:604131 ; - oboInOwl:hasDbXref UMLS:C1415477 ; oboInOwl:hasExactSynonym "3-prime alpha-globin gene", "HBA1", "hemoglobin--alpha locus 1", "minor alpha-globin locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3039 ; - skos:exactMatch HGNC_symbol:HBA1 ; + skos:exactMatch UMLS:C1415477, + HGNC:4823, + HGNC_symbol:HBA1 ; biolink:category biolink:Gene . OMIM:141850 a owl:Class ; @@ -34136,7 +34940,6 @@ OMIM:141850 a owl:Class ; PMID:9895333 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:604131 ; - oboInOwl:hasDbXref UMLS:C1415478 ; oboInOwl:hasExactSynonym "5-prime alpha-globin gene", "HBA2", "alpha-globin locus, second", @@ -34144,7 +34947,9 @@ OMIM:141850 a owl:Class ; "major alpha-globin locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3040 ; - skos:exactMatch HGNC_symbol:HBA2 ; + skos:exactMatch UMLS:C1415478, + HGNC:4824, + HGNC_symbol:HBA2 ; biolink:category biolink:Gene . OMIM:141860 a owl:Class ; @@ -34153,10 +34958,10 @@ OMIM:141860 a owl:Class ; PMID:6245373, PMID:6269090, PMID:7272227 ; - oboInOwl:hasDbXref UMLS:C1841345 ; oboInOwl:hasExactSynonym "alpha-globin locus, third", "hemoglobin--alpha locus 3" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1841345 ; biolink:category biolink:Gene . OMIM:141940 a owl:Class ; @@ -34236,12 +35041,13 @@ OMIM:142000 a owl:Class ; PMID:952968, PMID:9576336 ; RO:0002525 CHR:9606chr11p15.4 ; - oboInOwl:hasDbXref UMLS:C1415483 ; oboInOwl:hasExactSynonym "HBD", "hemoglobin--delta locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3045 ; - skos:exactMatch HGNC_symbol:HBD ; + skos:exactMatch UMLS:C1415483, + HGNC:4829, + HGNC_symbol:HBD ; biolink:category biolink:Gene . OMIM:142100 a owl:Class ; @@ -34257,12 +35063,13 @@ OMIM:142100 a owl:Class ; PMID:6254663, PMID:6897566, PMID:95353 ; - oboInOwl:hasDbXref UMLS:C1415484 ; oboInOwl:hasExactSynonym "HBE1", "hemoglobin--epsilon locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3046 ; - skos:exactMatch HGNC_symbol:HBE1 ; + skos:exactMatch UMLS:C1415484, + HGNC:4830, + HGNC_symbol:HBE1 ; biolink:category biolink:Gene . OMIM:142210 a owl:Class ; @@ -34271,7 +35078,6 @@ OMIM:142210 a owl:Class ; PMID:1916825, PMID:8325638, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415387 ; oboInOwl:hasExactSynonym "HIST1H1D", "h1 histone family, member 3, formerly", "h1.3", @@ -34281,7 +35087,9 @@ OMIM:142210 a owl:Class ; "histone gene cluster 1, h1d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3007 ; - skos:exactMatch HGNC_symbol:H1-3 ; + skos:exactMatch UMLS:C1415387, + HGNC:4717, + HGNC_symbol:H1-3 ; biolink:category biolink:Gene . OMIM:142220 a owl:Class ; @@ -34293,7 +35101,6 @@ OMIM:142220 a owl:Class ; PMID:9119399 ; RO:0002525 CHR:9606chr6p22.2 ; RO:0003303 OMIM:617537 ; - oboInOwl:hasDbXref UMLS:C1415388 ; oboInOwl:hasExactSynonym "HIST1H1E", "h1 histone family, member 4, formerly", "h1.4", @@ -34303,7 +35110,9 @@ OMIM:142220 a owl:Class ; "histone gene cluster 1, h1e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3008 ; - skos:exactMatch HGNC_symbol:H1-4 ; + skos:exactMatch UMLS:C1415388, + HGNC:4718, + HGNC_symbol:H1-4 ; biolink:category biolink:Gene . OMIM:142230 a owl:Class ; @@ -34319,13 +35128,14 @@ OMIM:142230 a owl:Class ; PMID:2462139, PMID:7507757, PMID:8555469 ; - oboInOwl:hasDbXref UMLS:C1332710 ; oboInOwl:hasExactSynonym "CD34", "cd34 antigen", "hematopoietic progenitor cell antigen cd34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:947 ; - skos:exactMatch HGNC_symbol:CD34 ; + skos:exactMatch UMLS:C1332710, + HGNC:1662, + HGNC_symbol:CD34 ; biolink:category biolink:Gene . OMIM:142240 a owl:Class ; @@ -34338,12 +35148,13 @@ OMIM:142240 a owl:Class ; PMID:3422341, PMID:3657962, PMID:3657976 ; - oboInOwl:hasDbXref UMLS:C1415487 ; oboInOwl:hasExactSynonym "HBQ1", "hemoglobin--theta-1 locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3049 ; - skos:exactMatch HGNC_symbol:HBQ1 ; + skos:exactMatch UMLS:C1415487, + HGNC:4833, + HGNC_symbol:HBQ1 ; biolink:category biolink:Gene . OMIM:142250 a owl:Class ; @@ -34423,7 +35234,12 @@ OMIM:142250 a owl:Class ; PMID:954089 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:141749 ; - oboInOwl:hasDbXref UMLS:C0019025, + oboInOwl:hasExactSynonym "HBG2", + "hemoglobin, gamma g", + "hemoglobin--gamma locus, 136 glycine" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:3048 ; + skos:exactMatch UMLS:C0019025, UMLS:C1415486, UMLS:C3151421, UMLS:C3891080, @@ -34466,13 +35282,9 @@ OMIM:142250 a owl:Class ; UMLS:C4285228, UMLS:C4285229, UMLS:C4285230, - UMLS:C4310970 ; - oboInOwl:hasExactSynonym "HBG2", - "hemoglobin, gamma g", - "hemoglobin--gamma locus, 136 glycine" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:3048 ; - skos:exactMatch HGNC_symbol:HBG2 ; + UMLS:C4310970, + HGNC:4832, + HGNC_symbol:HBG2 ; biolink:category biolink:Gene . OMIM:142270 a owl:Class ; @@ -34488,12 +35300,13 @@ OMIM:142290 a owl:Class ; PMID:3661561, PMID:3855550, PMID:4105917 ; - oboInOwl:hasDbXref UMLS:C1415712 ; oboInOwl:hasExactSynonym "HPX", "hemopexin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3263 ; - skos:exactMatch HGNC_symbol:HPX ; + skos:exactMatch UMLS:C1415712, + HGNC:5171, + HGNC_symbol:HPX ; biolink:category biolink:Gene . OMIM:142300 a owl:Class ; @@ -34519,17 +35332,17 @@ OMIM:142309 a owl:Class ; PMID:5763628, PMID:5830022, PMID:5936823 ; - oboInOwl:hasDbXref UMLS:C1840647 ; oboInOwl:hasExactSynonym "hemoglobin--variants for which the chain carrying the mutation 1s unknown or uncertain" ; + skos:exactMatch UMLS:C1840647 ; biolink:category biolink:Disease . OMIM:142330 a owl:Class ; rdfs:label "hepatic adenomas, familial" ; IAO:0000142 PMID:12355088, PMID:207987 ; - oboInOwl:hasDbXref UMLS:C1840646 ; oboInOwl:hasExactSynonym "hepatic adenomas, familial", "liver cell adenomas, familial" ; + skos:exactMatch UMLS:C1840646 ; biolink:category biolink:Disease . OMIM:142333 a owl:Class ; @@ -34539,21 +35352,22 @@ OMIM:142333 a owl:Class ; OMIM:142350 a owl:Class ; rdfs:label "hernia, double inguinal" ; IAO:0000142 PMID:18137066 ; - oboInOwl:hasDbXref UMLS:C0860251 ; - oboInOwl:hasExactSynonym "hernia, double inguinal" . + oboInOwl:hasExactSynonym "hernia, double inguinal" ; + skos:exactMatch UMLS:C0860251 . OMIM:142370 a owl:Class ; rdfs:label "HCK" ; IAO:0000142 PMID:12029088, PMID:3453117, PMID:3496523 ; - oboInOwl:hasDbXref UMLS:C0812317 ; oboInOwl:hasExactSynonym "HCK", "hck protooncogene, src family tyrosine kinase", "hemopoietic cell kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3055 ; - skos:exactMatch HGNC_symbol:HCK ; + skos:exactMatch UMLS:C0812317, + HGNC:4840, + HGNC_symbol:HCK ; biolink:category biolink:Gene . OMIM:142380 a owl:Class ; @@ -34572,22 +35386,23 @@ OMIM:142385 a owl:Class ; PMID:31076455, PMID:8608207, PMID:9864177 ; - oboInOwl:hasDbXref UMLS:C1415594, - UMLS:C1840636 ; oboInOwl:hasExactSynonym "HLF", "hepatic leukemia factor", "hlf/e2a fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3131 ; - skos:exactMatch HGNC_symbol:HLF ; + skos:exactMatch UMLS:C1415594, + UMLS:C1840636, + HGNC:4977, + HGNC_symbol:HLF ; biolink:category biolink:Gene . OMIM:142390 a owl:Class ; rdfs:label "HEP10" ; - oboInOwl:hasDbXref UMLS:C1840635 ; oboInOwl:hasExactSynonym "HEP10", "hepatic protein" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1840635 ; biolink:category biolink:Gene . OMIM:142395 a owl:Class ; @@ -34595,9 +35410,9 @@ OMIM:142395 a owl:Class ; IAO:0000142 PMID:20237496, PMID:2528067, PMID:2528068 ; - oboInOwl:hasDbXref UMLS:C1840634 ; oboInOwl:hasExactSynonym "hbv vaccine, response to", "hepatitis B vaccine, response to" ; + skos:exactMatch UMLS:C1840634 ; biolink:category biolink:Disease . OMIM:142400 a owl:Class ; @@ -34606,9 +35421,9 @@ OMIM:142400 a owl:Class ; PMID:5435270, PMID:5800995, PMID:5920132 ; - oboInOwl:hasDbXref UMLS:C3489393 ; oboInOwl:hasExactSynonym "hernia, hiatus", "hiatal hernia" ; + skos:exactMatch UMLS:C3489393 ; biolink:category biolink:Disease . OMIM:142408 a owl:Class ; @@ -34618,14 +35433,15 @@ OMIM:142408 a owl:Class ; PMID:8393443, PMID:9045873, PMID:9486989 ; - oboInOwl:hasDbXref UMLS:C1417377 ; oboInOwl:hasExactSynonym "MST1", "hepatocyte growth factor-like protein", "macrophage stimulating 1", "macrophage stimulating protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4485 ; - skos:exactMatch HGNC_symbol:MST1 ; + skos:exactMatch UMLS:C1417377, + HGNC:7380, + HGNC_symbol:MST1 ; biolink:category biolink:Gene . OMIM:142409 a owl:Class ; @@ -34660,7 +35476,6 @@ OMIM:142409 a owl:Class ; PMID:8898205 ; RO:0002525 CHR:9606chr7q21.11 ; RO:0003303 OMIM:608265 ; - oboInOwl:hasDbXref UMLS:C1442521 ; oboInOwl:hasExactSynonym "HGF", "hepatocyte growth factor", "hepatopoietin a", @@ -34668,7 +35483,9 @@ OMIM:142409 a owl:Class ; "scatter factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3082 ; - skos:exactMatch HGNC_symbol:HGF ; + skos:exactMatch UMLS:C1442521, + HGNC:4893, + HGNC_symbol:HGF ; biolink:category biolink:Gene . OMIM:142410 a owl:Class ; @@ -34726,15 +35543,6 @@ OMIM:142410 a owl:Class ; PMID:9851800 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C0279702, - UMLS:C1266042, - UMLS:C1420631, - UMLS:C1838100, - UMLS:C1840623, - UMLS:C1852091, - UMLS:C2675866, - UMLS:C3276902, - UMLS:C3837967 ; oboInOwl:hasExactSynonym "HNF1A", "albumin proximal factor", "hepatic nuclear factor-1-alpha", @@ -34744,7 +35552,17 @@ OMIM:142410 a owl:Class ; "transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6927 ; - skos:exactMatch HGNC_symbol:HNF1A ; + skos:exactMatch UMLS:C0279702, + UMLS:C1266042, + UMLS:C1420631, + UMLS:C1838100, + UMLS:C1840623, + UMLS:C1852091, + UMLS:C2675866, + UMLS:C3276902, + UMLS:C3837967, + HGNC:11621, + HGNC_symbol:HNF1A ; biolink:category biolink:Gene . OMIM:142420 a owl:Class ; @@ -34757,13 +35575,14 @@ OMIM:142440 a owl:Class ; PMID:1885621, PMID:2835076, PMID:9435303 ; - oboInOwl:hasDbXref UMLS:C1415700 ; oboInOwl:hasExactSynonym "HPN", "hepsin", "transmembrane protease, serine 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3249 ; - skos:exactMatch HGNC_symbol:HPN ; + skos:exactMatch UMLS:C1415700, + HGNC:5155, + HGNC_symbol:HPN ; biolink:category biolink:Gene . OMIM:142450 a owl:Class ; @@ -34782,7 +35601,6 @@ OMIM:142460 a owl:Class ; PMID:7551962, PMID:7959737, PMID:9259269 ; - oboInOwl:hasDbXref UMLS:C1419892 ; oboInOwl:hasExactSynonym "SDC2", "fibroglycan", "heparan sulfate proteoglycan", @@ -34791,7 +35609,9 @@ OMIM:142460 a owl:Class ; "syndecan 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6383 ; - skos:exactMatch HGNC_symbol:SDC2 ; + skos:exactMatch UMLS:C1419892, + HGNC:10659, + HGNC_symbol:SDC2 ; biolink:category biolink:Gene . OMIM:142461 a owl:Class ; @@ -34814,15 +35634,16 @@ OMIM:142461 a owl:Class ; PMID:9788974 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:255800 ; - oboInOwl:hasDbXref UMLS:C1415793, - UMLS:C1857100, - UMLS:C4551479 ; oboInOwl:hasExactSynonym "HSPG2", "heparan sulfate proteoglycan of basement membrane", "perlecan" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3339 ; - skos:exactMatch HGNC_symbol:HSPG2 ; + skos:exactMatch UMLS:C1415793, + UMLS:C1857100, + UMLS:C4551479, + HGNC:5273, + HGNC_symbol:HSPG2 ; biolink:category biolink:Gene . OMIM:142500 a owl:Class ; @@ -34830,8 +35651,8 @@ OMIM:142500 a owl:Class ; IAO:0000142 PMID:11074823, PMID:1602322, PMID:5797351 ; - oboInOwl:hasDbXref UMLS:C0423318 ; - oboInOwl:hasExactSynonym "heterochromia iridis" . + oboInOwl:hasExactSynonym "heterochromia iridis" ; + skos:exactMatch UMLS:C0423318 . OMIM:142510 a owl:Class ; IAO:0100001 OMIM:300049 ; @@ -34848,26 +35669,28 @@ OMIM:142570 a owl:Class ; PMID:782337, PMID:8812439, PMID:8941369 ; - oboInOwl:hasDbXref UMLS:C1415556 ; oboInOwl:hasExactSynonym "HK3", "hexokinase 3", "hexokinase, white cell" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3101 ; - skos:exactMatch HGNC_symbol:HK3 ; + skos:exactMatch UMLS:C1415556, + HGNC:4925, + HGNC_symbol:HK3 ; biolink:category biolink:Gene . OMIM:142580 a owl:Class ; rdfs:label "PRRC2A" ; IAO:0000142 PMID:2156268 ; - oboInOwl:hasDbXref UMLS:C1422270 ; oboInOwl:hasExactSynonym "PRRC2A", "d6s51e", "hla-b-associated transcript 2", "proline-rich coiled-coil protein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7916 ; - skos:exactMatch HGNC_symbol:PRRC2A ; + skos:exactMatch UMLS:C1422270, + HGNC:13918, + HGNC_symbol:PRRC2A ; biolink:category biolink:Gene . OMIM:142590 a owl:Class ; @@ -34878,7 +35701,6 @@ OMIM:142590 a owl:Class ; PMID:21743475, PMID:28104892, PMID:2911734 ; - oboInOwl:hasDbXref UMLS:C1422271 ; oboInOwl:hasExactSynonym "BAG6", "bag cochaperone 6", "bcl2-associated athanogene 6", @@ -34887,20 +35709,23 @@ OMIM:142590 a owl:Class ; "scythe, xenopus, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7917 ; - skos:exactMatch HGNC_symbol:BAG6 ; + skos:exactMatch UMLS:C1422271, + HGNC:13919, + HGNC_symbol:BAG6 ; biolink:category biolink:Gene . OMIM:142610 a owl:Class ; rdfs:label "GPANK1" ; IAO:0000142 PMID:2911734 ; - oboInOwl:hasDbXref UMLS:C1422272 ; oboInOwl:hasExactSynonym "GPANK1", "d6s54e", "g-patch domain- and ankyrin repeats-containing protein 1", "hla-b-associated transcript 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7918 ; - skos:exactMatch HGNC_symbol:GPANK1 ; + skos:exactMatch UMLS:C1422272, + HGNC:13920, + HGNC_symbol:GPANK1 ; biolink:category biolink:Gene . OMIM:142620 a owl:Class ; @@ -34908,14 +35733,15 @@ OMIM:142620 a owl:Class ; IAO:0000142 PMID:2911734 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:619735 ; - oboInOwl:hasDbXref UMLS:C1422273 ; oboInOwl:hasExactSynonym "ABHD16A", "abhydrolase domain-containing protein 16a, phospholipase", "d6s82e", "hla-b-associated transcript 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7920 ; - skos:exactMatch HGNC_symbol:ABHD16A ; + skos:exactMatch UMLS:C1422273, + HGNC:13921, + HGNC_symbol:ABHD16A ; biolink:category biolink:Gene . OMIM:142622 a owl:Class ; @@ -34930,27 +35756,28 @@ OMIM:142622 a owl:Class ; PMID:9931466 ; RO:0002525 CHR:9606chr1p35.1 ; RO:0003303 OMIM:224500 ; - oboInOwl:hasDbXref UMLS:C1333924 ; oboInOwl:hasExactSynonym "HPCA", "hippocalcin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3208 ; - skos:exactMatch HGNC_symbol:HPCA ; + skos:exactMatch UMLS:C1333924, + HGNC:5144, + HGNC_symbol:HPCA ; biolink:category biolink:Gene . OMIM:142625 a owl:Class ; rdfs:label "hirsutism, skeletal dysplasia, and mental retardation" ; IAO:0000142 PMID:8092196, PMID:8357012 ; - oboInOwl:hasDbXref UMLS:C3149452 ; - oboInOwl:hasExactSynonym "hirsutism, skeletal dysplasia, and mental retardation" . + oboInOwl:hasExactSynonym "hirsutism, skeletal dysplasia, and mental retardation" ; + skos:exactMatch UMLS:C3149452 . OMIM:142630 a owl:Class ; rdfs:label "histiocytosis, progressive mucinous" ; IAO:0000142 PMID:3401026, PMID:7944513 ; - oboInOwl:hasDbXref UMLS:C1840586 ; - oboInOwl:hasExactSynonym "histiocytosis, progressive mucinous" . + oboInOwl:hasExactSynonym "histiocytosis, progressive mucinous" ; + skos:exactMatch UMLS:C1840586 . OMIM:142640 a owl:Class ; rdfs:label "HRG" ; @@ -34969,13 +35796,14 @@ OMIM:142640 a owl:Class ; PMID:9414276 ; RO:0002525 CHR:9606chr3q27.3 ; RO:0003303 OMIM:613116 ; - oboInOwl:hasDbXref UMLS:C1455836 ; oboInOwl:hasExactSynonym "HRG", "histidine-rich glycoprotein", "hrgp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3273 ; - skos:exactMatch HGNC_symbol:HRG ; + skos:exactMatch UMLS:C1455836, + HGNC:5181, + HGNC_symbol:HRG ; biolink:category biolink:Gene . OMIM:142660 a owl:Class ; @@ -34983,9 +35811,9 @@ OMIM:142660 a owl:Class ; IAO:0000142 PMID:1202359, PMID:19040401, PMID:9025 ; - oboInOwl:hasDbXref UMLS:C1840583 ; oboInOwl:hasExactSynonym "HEXC", - "hexosaminidase c" . + "hexosaminidase c" ; + skos:exactMatch UMLS:C1840583 . OMIM:142669 a owl:Class ; rdfs:label "beukes hip dysplasia" ; @@ -34994,12 +35822,12 @@ OMIM:142669 a owl:Class ; PMID:2389793, PMID:26428751, PMID:7864044 ; - oboInOwl:hasDbXref UMLS:C1840572 ; oboInOwl:hasExactSynonym "BHD", "beukes familial hip dysplasia", "beukes hip dysplasia", "hip dysplasia, beukes iia", "osteoarthropathy, premature degenerative, of hip" ; + skos:exactMatch UMLS:C1840572 ; biolink:category biolink:Disease . OMIM:142701 a owl:Class ; @@ -35008,7 +35836,6 @@ OMIM:142701 a owl:Class ; PMID:2773933, PMID:412494, PMID:96354 ; - oboInOwl:hasDbXref UMLS:C1415800 ; oboInOwl:hasExactSynonym "HTN1", "his1", "histatin 1", @@ -35016,7 +35843,9 @@ OMIM:142701 a owl:Class ; "post-pb protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3346 ; - skos:exactMatch HGNC_symbol:HTN1 ; + skos:exactMatch UMLS:C1415800, + HGNC:5283, + HGNC_symbol:HTN1 ; biolink:category biolink:Gene . OMIM:142702 a owl:Class ; @@ -35031,7 +35860,6 @@ OMIM:142702 a owl:Class ; PMID:4197885, PMID:588241, PMID:7951254 ; - oboInOwl:hasDbXref UMLS:C1415801 ; oboInOwl:hasExactSynonym "HTN3", "histatin 2", "histatin 3", @@ -35039,7 +35867,9 @@ OMIM:142702 a owl:Class ; "pb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3347 ; - skos:exactMatch HGNC_symbol:HTN3 ; + skos:exactMatch UMLS:C1415801, + HGNC:5284, + HGNC_symbol:HTN3 ; biolink:category biolink:Gene . OMIM:142703 a owl:Class ; @@ -35047,12 +35877,13 @@ OMIM:142703 a owl:Class ; IAO:0000142 PMID:11574888, PMID:1703298, PMID:1714721 ; - oboInOwl:hasDbXref UMLS:C1439352 ; oboInOwl:hasExactSynonym "HRH2", "histamine receptor h2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3274 ; - skos:exactMatch HGNC_symbol:HRH2 ; + skos:exactMatch UMLS:C1439352, + HGNC:5183, + HGNC_symbol:HRH2 ; biolink:category biolink:Gene . OMIM:142704 a owl:Class ; @@ -35074,12 +35905,13 @@ OMIM:142704 a owl:Class ; PMID:8786082 ; RO:0002525 CHR:9606chr15q21.2 ; RO:0003303 OMIM:137580 ; - oboInOwl:hasDbXref UMLS:C1415505 ; oboInOwl:hasExactSynonym "HDC", "histidine decarboxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3067 ; - skos:exactMatch HGNC_symbol:HDC ; + skos:exactMatch UMLS:C1415505, + HGNC:4855, + HGNC_symbol:HDC ; biolink:category biolink:Gene . OMIM:142705 a owl:Class ; @@ -35088,12 +35920,13 @@ OMIM:142705 a owl:Class ; PMID:2037293, PMID:2498310, PMID:8288260 ; - oboInOwl:hasDbXref UMLS:C1415718 ; oboInOwl:hasExactSynonym "HRC", "histidine-rich calcium-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3270 ; - skos:exactMatch HGNC_symbol:HRC ; + skos:exactMatch UMLS:C1415718, + HGNC:5178, + HGNC_symbol:HRC ; biolink:category biolink:Gene . OMIM:142708 a owl:Class ; @@ -35101,7 +35934,6 @@ OMIM:142708 a owl:Class ; IAO:0000142 PMID:12408966, PMID:3084796, PMID:8325638 ; - oboInOwl:hasDbXref UMLS:C1415384 ; oboInOwl:hasExactSynonym "H1F0", "h1 histone family, member 0", "h1-0 histone", @@ -35109,7 +35941,9 @@ OMIM:142708 a owl:Class ; "h1fv" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3005 ; - skos:exactMatch HGNC_symbol:H1-0 ; + skos:exactMatch UMLS:C1415384, + HGNC:4714, + HGNC_symbol:H1-0 ; biolink:category biolink:Gene . OMIM:142709 a owl:Class ; @@ -35129,7 +35963,6 @@ OMIM:142709 a owl:Class ; PMID:8325638, PMID:9119399, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415385 ; oboInOwl:hasExactSynonym "HIST1H1A", "h1 histone family, member 1, formerly", "h1.1", @@ -35139,7 +35972,9 @@ OMIM:142709 a owl:Class ; "histone gene cluster 1, h1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3024 ; - skos:exactMatch HGNC_symbol:H1-1 ; + skos:exactMatch UMLS:C1415385, + HGNC:4715, + HGNC_symbol:H1-1 ; biolink:category biolink:Gene . OMIM:142710 a owl:Class ; @@ -35151,7 +35986,6 @@ OMIM:142710 a owl:Class ; PMID:8325638, PMID:9119399, PMID:9751709 ; - oboInOwl:hasDbXref UMLS:C1415386 ; oboInOwl:hasExactSynonym "HIST1H1C", "h1 histone family, member 2, formerly", "h1.2", @@ -35161,7 +35995,9 @@ OMIM:142710 a owl:Class ; "histone gene cluster 1, h1c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3006 ; - skos:exactMatch HGNC_symbol:H1-2 ; + skos:exactMatch UMLS:C1415386, + HGNC:4716, + HGNC_symbol:H1-2 ; biolink:category biolink:Gene . OMIM:142712 a owl:Class ; @@ -35171,7 +36007,6 @@ OMIM:142712 a owl:Class ; PMID:8201007, PMID:8325638, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415390 ; oboInOwl:hasExactSynonym "HIST1H1T", "h1 histone family, member t, formerly", "h1 histone, testis-specific", @@ -35183,15 +36018,17 @@ OMIM:142712 a owl:Class ; "histone gene cluster 1, h1t" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3010 ; - skos:exactMatch HGNC_symbol:H1-6 ; + skos:exactMatch UMLS:C1415390, + HGNC:4720, + HGNC_symbol:H1-6 ; biolink:category biolink:Gene . OMIM:142730 a owl:Class ; rdfs:label "histiocytic dermatoarthritis" ; IAO:0000142 PMID:2391595, PMID:4705422 ; - oboInOwl:hasDbXref UMLS:C1840551 ; - oboInOwl:hasExactSynonym "histiocytic dermatoarthritis" . + oboInOwl:hasExactSynonym "histiocytic dermatoarthritis" ; + skos:exactMatch UMLS:C1840551 . OMIM:142760 a owl:Class ; IAO:0100001 OMIM:142720 ; @@ -35215,14 +36052,15 @@ OMIM:142763 a owl:Class ; PMID:25219850, PMID:31875854, PMID:8020992 ; - oboInOwl:hasDbXref UMLS:C1415408 ; oboInOwl:hasExactSynonym "H2AFZ", "h2a histone family, member z", "h2az", "h2az histone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3015 ; - skos:exactMatch HGNC_symbol:H2AZ1 ; + skos:exactMatch UMLS:C1415408, + HGNC:4741, + HGNC_symbol:H2AZ1 ; biolink:category biolink:Gene . OMIM:142765 a owl:Class ; @@ -35230,20 +36068,21 @@ OMIM:142765 a owl:Class ; IAO:0000142 PMID:1505960, PMID:8289803, PMID:8661125 ; - oboInOwl:hasDbXref UMLS:C1419360 ; oboInOwl:hasExactSynonym "RFX2", "hla class 2 regulatory factor rfx2", "regulatory factor x, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5990 ; - skos:exactMatch HGNC_symbol:RFX2 ; + skos:exactMatch UMLS:C1419360, + HGNC:9983, + HGNC_symbol:RFX2 ; biolink:category biolink:Gene . OMIM:142770 a owl:Class ; rdfs:label "hla modifier" ; IAO:0000142 PMID:4134630 ; - oboInOwl:hasDbXref UMLS:C1840550 ; - oboInOwl:hasExactSynonym "hla modifier" . + oboInOwl:hasExactSynonym "hla modifier" ; + skos:exactMatch UMLS:C1840550 . OMIM:142780 a owl:Class ; rdfs:label "HIST2H3C" ; @@ -35251,7 +36090,6 @@ OMIM:142780 a owl:Class ; PMID:12909349, PMID:16267050, PMID:6494913 ; - oboInOwl:hasDbXref UMLS:C1426975 ; oboInOwl:hasExactSynonym "HIST2H3C", "h3 histone family, member m", "h3 histone family, member n", @@ -35263,7 +36101,9 @@ OMIM:142780 a owl:Class ; "histone gene cluster 2, h3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126961 ; - skos:exactMatch HGNC_symbol:H3C14 ; + skos:exactMatch UMLS:C1426975, + HGNC:20503, + HGNC_symbol:H3C14 ; biolink:category biolink:Gene . OMIM:142790 a owl:Class ; @@ -35282,7 +36122,6 @@ OMIM:142790 a owl:Class ; PMID:6324166, PMID:6746029, PMID:8810244 ; - oboInOwl:hasDbXref UMLS:C1413237 ; oboInOwl:hasExactSynonym "CD74", "cd74 antigen", "histocompatibility: class 2 antigens, gamma chain of", @@ -35293,17 +36132,19 @@ OMIM:142790 a owl:Class ; "invariant polypeptide of major histocompatibility complex, class 2 antigen-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:972 ; - skos:exactMatch HGNC_symbol:CD74 ; + skos:exactMatch UMLS:C1413237, + HGNC:1697, + HGNC_symbol:CD74 ; biolink:category biolink:Gene . OMIM:142795 a owl:Class ; rdfs:label "HLA8" ; IAO:0000142 PMID:6165999, PMID:8518816 ; - oboInOwl:hasDbXref UMLS:C1840549 ; oboInOwl:hasExactSynonym "HLA8", "hla-8 histocompatibility iia" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1840549 ; biolink:category biolink:Gene . OMIM:142810 a owl:Class ; @@ -35319,7 +36160,6 @@ OMIM:142810 a owl:Class ; PMID:7755634 ; RO:0002525 CHR:9606chr5q31.3 ; RO:0003303 OMIM:614504 ; - oboInOwl:hasDbXref UMLS:C1415473 ; oboInOwl:hasExactSynonym "HARS1", "hars", "hisrs", @@ -35327,7 +36167,9 @@ OMIM:142810 a owl:Class ; "hrs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3035 ; - skos:exactMatch HGNC_symbol:HARS1 ; + skos:exactMatch UMLS:C1415473, + HGNC:4816, + HGNC_symbol:HARS1 ; biolink:category biolink:Gene . OMIM:142830 a owl:Class ; @@ -35380,10 +36222,6 @@ OMIM:142830 a owl:Class ; PMID:8053961 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:608579 ; - oboInOwl:hasDbXref UMLS:C1415561, - UMLS:C1840547, - UMLS:C1969756, - UMLS:C2750833 ; oboInOwl:hasExactSynonym "HLA-B", "abacavir hypersensitivity, susceptibility to", "drug-induced liver injury due to flucloxacillin", @@ -35392,7 +36230,12 @@ OMIM:142830 a owl:Class ; "synovitis, chronic, susceptibility to" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3106 ; - skos:exactMatch HGNC_symbol:HLA-B ; + skos:exactMatch UMLS:C1415561, + UMLS:C1840547, + UMLS:C1969756, + UMLS:C2750833, + HGNC:4932, + HGNC_symbol:HLA-B ; biolink:category biolink:Gene . OMIM:142840 a owl:Class ; @@ -35420,13 +36263,14 @@ OMIM:142840 a owl:Class ; PMID:9438190 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:177900 ; - oboInOwl:hasDbXref UMLS:C1415562 ; oboInOwl:hasExactSynonym "HLA-C", "hla-c histocompatibility iia", "major histocompatibility complex, class i, c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3107 ; - skos:exactMatch HGNC_symbol:HLA-C ; + skos:exactMatch UMLS:C1415562, + HGNC:4933, + HGNC_symbol:HLA-C ; biolink:category biolink:Gene . OMIM:142850 a owl:Class ; @@ -35441,7 +36285,6 @@ OMIM:142855 a owl:Class ; PMID:8139689, PMID:8139690, PMID:8849454 ; - oboInOwl:hasDbXref UMLS:C1415563 ; oboInOwl:hasExactSynonym "HLA-DMA", "hla-dm histocompatibility type, alpha chain", "hladm", @@ -35449,7 +36292,9 @@ OMIM:142855 a owl:Class ; "ring6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3108 ; - skos:exactMatch HGNC_symbol:HLA-DMA ; + skos:exactMatch UMLS:C1415563, + HGNC:4934, + HGNC_symbol:HLA-DMA ; biolink:category biolink:Gene . OMIM:142856 a owl:Class ; @@ -35458,7 +36303,6 @@ OMIM:142856 a owl:Class ; PMID:1922366, PMID:8139689, PMID:8139690 ; - oboInOwl:hasDbXref UMLS:C1415564 ; oboInOwl:hasExactSynonym "HLA-DMB", "hla-dm histocompatibility type, beta chain", "hladmb", @@ -35466,7 +36310,9 @@ OMIM:142856 a owl:Class ; "ring7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3109 ; - skos:exactMatch HGNC_symbol:HLA-DMB ; + skos:exactMatch UMLS:C1415564, + HGNC:4935, + HGNC_symbol:HLA-DMB ; biolink:category biolink:Gene . OMIM:142857 a owl:Class ; @@ -35516,12 +36362,13 @@ OMIM:142857 a owl:Class ; PMID:9500545 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:181000 ; - oboInOwl:hasDbXref UMLS:C1415576 ; oboInOwl:hasExactSynonym "HLA-DRB1", "major histocompatibility complex, class ii, dr beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3123 ; - skos:exactMatch HGNC_symbol:HLA-DRB1 ; + skos:exactMatch UMLS:C1415576, + HGNC:4948, + HGNC_symbol:HLA-DRB1 ; biolink:category biolink:Gene . OMIM:142858 a owl:Class ; @@ -35537,13 +36384,14 @@ OMIM:142858 a owl:Class ; PMID:7885043, PMID:8105536 ; RO:0002525 CHR:9606chr6p21.32 ; - oboInOwl:hasDbXref UMLS:C1333900 ; oboInOwl:hasExactSynonym "HLA-DPB1", "hla-dp histocompatibility type, beta-1 subunit", "major histocompatibility complex, class ii, dp beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3115 ; - skos:exactMatch HGNC_symbol:HLA-DPB1 ; + skos:exactMatch UMLS:C1333900, + HGNC:4940, + HGNC_symbol:HLA-DPB1 ; biolink:category biolink:Gene . OMIM:142870 a owl:Class ; @@ -35580,14 +36428,15 @@ OMIM:142871 a owl:Class ; PMID:9539768 ; RO:0002525 CHR:9606chr6p22.1 ; RO:0003303 OMIM:600807 ; - oboInOwl:hasDbXref UMLS:C1415587 ; oboInOwl:hasExactSynonym "HLA-G", "hla-6.0", "hla-g histocompatibility antigen, class 1", "t-cell a locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3135 ; - skos:exactMatch HGNC_symbol:HLA-G ; + skos:exactMatch UMLS:C1415587, + HGNC:4964, + HGNC_symbol:HLA-G ; biolink:category biolink:Gene . OMIM:142890 a owl:Class ; @@ -35596,10 +36445,10 @@ OMIM:142890 a owl:Class ; PMID:6160591, PMID:6188731, PMID:6977217 ; - oboInOwl:hasDbXref UMLS:C1840540 ; oboInOwl:hasExactSynonym "HLA-MT", "hla-mt histocompatibility iia" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1840540 ; biolink:category biolink:Gene . OMIM:142910 a owl:Class ; @@ -35622,9 +36471,6 @@ OMIM:142910 a owl:Class ; PMID:6088070, PMID:9853754 ; RO:0002525 CHR:9606chr5q13.3 ; - oboInOwl:hasDbXref UMLS:C1415615, - UMLS:C1840531, - UMLS:C3888197 ; oboInOwl:hasExactSynonym "3-hydroxy-3-methylglutaryl-coa reductase", "HMGCR", "hmg-coa reductase", @@ -35632,7 +36478,11 @@ OMIM:142910 a owl:Class ; "statins, attenuated cholesterol lowering by" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3156 ; - skos:exactMatch HGNC_symbol:HMGCR ; + skos:exactMatch UMLS:C1415615, + UMLS:C1840531, + UMLS:C3888197, + HGNC:5006, + HGNC_symbol:HMGCR ; biolink:category biolink:Gene . OMIM:142920 a owl:Class ; @@ -35640,10 +36490,10 @@ OMIM:142920 a owl:Class ; IAO:0000142 PMID:15849268, PMID:2998758, PMID:8890155 ; - oboInOwl:hasDbXref UMLS:C1840530 ; oboInOwl:hasExactSynonym "HLA-DO", "hla-do histocompatibility iia" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1840530 ; biolink:category biolink:Gene . OMIM:142925 a owl:Class ; @@ -35655,13 +36505,14 @@ OMIM:142930 a owl:Class ; IAO:0000142 PMID:3000765, PMID:3315095, PMID:6328517 ; - oboInOwl:hasDbXref UMLS:C1415565 ; oboInOwl:hasExactSynonym "HLA-DNA", "hla-dz histocompatibility iia", "major histocompatibility complex, class ii, dn alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3111 ; - skos:exactMatch HGNC_symbol:HLA-DOA ; + skos:exactMatch UMLS:C1415565, + HGNC:4936, + HGNC_symbol:HLA-DOA ; biolink:category biolink:Gene . OMIM:142940 a owl:Class ; @@ -35672,14 +36523,15 @@ OMIM:142940 a owl:Class ; PMID:2877984, PMID:3470763, PMID:7913309 ; - oboInOwl:hasDbXref UMLS:C1415616 ; oboInOwl:hasExactSynonym "3-hydroxy-3-methylglutaryl-coa synthase 1", "3-hydroxy-3-methylglutaryl-coa synthase, soluble", "HMGCS1", "hmg-coa synthase, cytosolic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3157 ; - skos:exactMatch HGNC_symbol:HMGCS1 ; + skos:exactMatch UMLS:C1415616, + HGNC:5007, + HGNC_symbol:HMGCS1 ; biolink:category biolink:Gene . OMIM:142945 a owl:Class ; @@ -35714,11 +36566,11 @@ OMIM:142945 a owl:Class ; PMID:8896572, PMID:9391882, PMID:9605287 ; - oboInOwl:hasDbXref UMLS:C1840529 ; oboInOwl:hasExactSynonym "HPE3", "hlp3", "holoprosencephaly 3" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C1840529 ; biolink:category biolink:Disease . OMIM:142950 a owl:Class ; @@ -35739,7 +36591,6 @@ OMIM:142950 a owl:Class ; PMID:4038785, PMID:6323992, PMID:6327065 ; - oboInOwl:hasDbXref UMLS:C1415661 ; oboInOwl:hasExactSynonym "HOXA7", "antp, drosophila, homolog of", "homeobox 1a", @@ -35747,20 +36598,23 @@ OMIM:142950 a owl:Class ; "hox-1.1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3204 ; - skos:exactMatch HGNC_symbol:HOXA7 ; + skos:exactMatch UMLS:C1415661, + HGNC:5108, + HGNC_symbol:HOXA7 ; biolink:category biolink:Gene . OMIM:142951 a owl:Class ; rdfs:label "HOXA6" ; IAO:0000142 PMID:2574852 ; - oboInOwl:hasDbXref UMLS:C1415660 ; oboInOwl:hasExactSynonym "HOXA6", "homeobox 1b", "homeobox a6", "hox-1.2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3203 ; - skos:exactMatch HGNC_symbol:HOXA6 ; + skos:exactMatch UMLS:C1415660, + HGNC:5107, + HGNC_symbol:HOXA6 ; biolink:category biolink:Gene . OMIM:142952 a owl:Class ; @@ -35769,20 +36623,20 @@ OMIM:142952 a owl:Class ; PMID:10879542, PMID:15545268, PMID:17957028 ; - oboInOwl:hasDbXref UMLS:C1415659 ; oboInOwl:hasExactSynonym "HOXA5", "homeobox 1c", "homeobox a5", "hox-1.3, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3202 ; - skos:exactMatch HGNC_symbol:HOXA5 ; + skos:exactMatch UMLS:C1415659, + HGNC:5106, + HGNC_symbol:HOXA5 ; biolink:category biolink:Gene . OMIM:142953 a owl:Class ; rdfs:label "HOXA4" ; IAO:0000142 PMID:2574852 ; - oboInOwl:hasDbXref UMLS:C1415658 ; oboInOwl:hasExactSynonym "HOXA4", "dfd, drosophila, homolog of", "homeobox 1d", @@ -35790,20 +36644,23 @@ OMIM:142953 a owl:Class ; "hox-1.4, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3201 ; - skos:exactMatch HGNC_symbol:HOXA4 ; + skos:exactMatch UMLS:C1415658, + HGNC:5105, + HGNC_symbol:HOXA4 ; biolink:category biolink:Gene . OMIM:142954 a owl:Class ; rdfs:label "HOXA3" ; IAO:0000142 PMID:10688203 ; - oboInOwl:hasDbXref UMLS:C1415657 ; oboInOwl:hasExactSynonym "HOXA3", "homeobox 1e", "homeobox a3", "hox-1.5, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3200 ; - skos:exactMatch HGNC_symbol:HOXA3 ; + skos:exactMatch UMLS:C1415657, + HGNC:5104, + HGNC_symbol:HOXA3 ; biolink:category biolink:Gene . OMIM:142955 a owl:Class ; @@ -35823,9 +36680,6 @@ OMIM:142955 a owl:Class ; PMID:8646877 ; RO:0002525 CHR:9606chr7p15.2 ; RO:0003303 OMIM:601536 ; - oboInOwl:hasDbXref UMLS:C1415653, - UMLS:C1832215, - UMLS:C1832216 ; oboInOwl:hasExactSynonym "HOXA1", "homeobox 1f", "homeobox a1", @@ -35833,7 +36687,11 @@ OMIM:142955 a owl:Class ; "lab, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3198 ; - skos:exactMatch HGNC_symbol:HOXA1 ; + skos:exactMatch UMLS:C1415653, + UMLS:C1832215, + UMLS:C1832216, + HGNC:5099, + HGNC_symbol:HOXA1 ; biolink:category biolink:Gene . OMIM:142956 a owl:Class ; @@ -35848,9 +36706,6 @@ OMIM:142956 a owl:Class ; PMID:8563753, PMID:8563754, PMID:9628584 ; - oboInOwl:hasDbXref UMLS:C1333922, - UMLS:C1840524, - UMLS:C1842847 ; oboInOwl:hasExactSynonym "HOXA9", "abd-b, drosophila, homolog of", "homeobox 1g", @@ -35860,7 +36715,11 @@ OMIM:142956 a owl:Class ; "hoxa9/nup98 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3205 ; - skos:exactMatch HGNC_symbol:HOXA9 ; + skos:exactMatch UMLS:C1333922, + UMLS:C1840524, + UMLS:C1842847, + HGNC:5109, + HGNC_symbol:HOXA9 ; biolink:category biolink:Gene . OMIM:142957 a owl:Class ; @@ -35876,13 +36735,14 @@ OMIM:142957 a owl:Class ; PMID:8972230, PMID:9408238, PMID:9525980 ; - oboInOwl:hasDbXref UMLS:C1366503 ; oboInOwl:hasExactSynonym "HOXA10", "homeobox 1h", "homeobox a10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3206 ; - skos:exactMatch HGNC_symbol:HOXA10 ; + skos:exactMatch UMLS:C1366503, + HGNC:5100, + HGNC_symbol:HOXA10 ; biolink:category biolink:Gene . OMIM:142958 a owl:Class ; @@ -35897,13 +36757,14 @@ OMIM:142958 a owl:Class ; PMID:7596412 ; RO:0002525 CHR:9606chr7p15.2 ; RO:0003303 OMIM:605432 ; - oboInOwl:hasDbXref UMLS:C1415654 ; oboInOwl:hasExactSynonym "HOXA11", "homeobox 1i", "homeobox a11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3207 ; - skos:exactMatch HGNC_symbol:HOXA11 ; + skos:exactMatch UMLS:C1415654, + HGNC:5101, + HGNC_symbol:HOXA11 ; biolink:category biolink:Gene . OMIM:142959 a owl:Class ; @@ -35929,13 +36790,14 @@ OMIM:142959 a owl:Class ; PMID:9020844 ; RO:0002525 CHR:9606chr7p15.2 ; RO:0003303 OMIM:140000 ; - oboInOwl:hasDbXref UMLS:C1415655 ; oboInOwl:hasExactSynonym "HOXA13", "homeobox 1j", "homeobox a13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3209 ; - skos:exactMatch HGNC_symbol:HOXA13 ; + skos:exactMatch UMLS:C1415655, + HGNC:5102, + HGNC_symbol:HOXA13 ; biolink:category biolink:Gene . OMIM:142960 a owl:Class ; @@ -35954,28 +36816,30 @@ OMIM:142960 a owl:Class ; PMID:4075393, PMID:4561854, PMID:6091895 ; - oboInOwl:hasDbXref UMLS:C1415668 ; oboInOwl:hasExactSynonym "HOXB5", "homeobox 2a", "homeobox b5", "hox2.1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3215 ; - skos:exactMatch HGNC_symbol:HOXB5 ; + skos:exactMatch UMLS:C1415668, + HGNC:5116, + HGNC_symbol:HOXB5 ; biolink:category biolink:Gene . OMIM:142961 a owl:Class ; rdfs:label "HOXB6" ; IAO:0000142 PMID:1358998, PMID:8646877 ; - oboInOwl:hasDbXref UMLS:C1415669 ; oboInOwl:hasExactSynonym "HOXB6", "homeobox 2b", "homeobox b6", "hox-2.2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3216 ; - skos:exactMatch HGNC_symbol:HOXB6 ; + skos:exactMatch UMLS:C1415669, + HGNC:5117, + HGNC_symbol:HOXB6 ; biolink:category biolink:Gene . OMIM:142962 a owl:Class ; @@ -35984,14 +36848,15 @@ OMIM:142962 a owl:Class ; PMID:2574852, PMID:2885844, PMID:7530503 ; - oboInOwl:hasDbXref UMLS:C1415670 ; oboInOwl:hasExactSynonym "HOXB7", "homeobox 2c", "homeobox b7", "hox-2.3, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3217 ; - skos:exactMatch HGNC_symbol:HOXB7 ; + skos:exactMatch UMLS:C1415670, + HGNC:5118, + HGNC_symbol:HOXB7 ; biolink:category biolink:Gene . OMIM:142963 a owl:Class ; @@ -36003,14 +36868,15 @@ OMIM:142963 a owl:Class ; PMID:18430798, PMID:20510925, PMID:2574852 ; - oboInOwl:hasDbXref UMLS:C1415671 ; oboInOwl:hasExactSynonym "HOXB8", "homeobox 2d", "homeobox b8", "hox-2.4, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3218 ; - skos:exactMatch HGNC_symbol:HOXB8 ; + skos:exactMatch UMLS:C1415671, + HGNC:5119, + HGNC_symbol:HOXB8 ; biolink:category biolink:Gene . OMIM:142964 a owl:Class ; @@ -36018,14 +36884,15 @@ OMIM:142964 a owl:Class ; IAO:0000142 PMID:17148583, PMID:20080567, PMID:21930940 ; - oboInOwl:hasDbXref UMLS:C1415672 ; oboInOwl:hasExactSynonym "HOXB9", "homeobox 2e", "homeobox b9", "hox-2.5, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3219 ; - skos:exactMatch HGNC_symbol:HOXB9 ; + skos:exactMatch UMLS:C1415672, + HGNC:5120, + HGNC_symbol:HOXB9 ; biolink:category biolink:Gene . OMIM:142965 a owl:Class ; @@ -36036,27 +36903,29 @@ OMIM:142965 a owl:Class ; PMID:14578881, PMID:14578882, PMID:2574852 ; - oboInOwl:hasDbXref UMLS:C1415667 ; oboInOwl:hasExactSynonym "HOXB4", "homeobox 2f", "homeobox b4", "hox-2.6, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3214 ; - skos:exactMatch HGNC_symbol:HOXB4 ; + skos:exactMatch UMLS:C1415667, + HGNC:5115, + HGNC_symbol:HOXB4 ; biolink:category biolink:Gene . OMIM:142966 a owl:Class ; rdfs:label "HOXB3" ; IAO:0000142 PMID:2574852 ; - oboInOwl:hasDbXref UMLS:C1415666 ; oboInOwl:hasExactSynonym "HOXB3", "homeobox 2g", "homeobox b3", "hox-2.7, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3213 ; - skos:exactMatch HGNC_symbol:HOXB3 ; + skos:exactMatch UMLS:C1415666, + HGNC:5114, + HGNC_symbol:HOXB3 ; biolink:category biolink:Gene . OMIM:142967 a owl:Class ; @@ -36066,14 +36935,15 @@ OMIM:142967 a owl:Class ; PMID:7753831, PMID:7876223, PMID:9012503 ; - oboInOwl:hasDbXref UMLS:C1415665 ; oboInOwl:hasExactSynonym "HOXB2", "homeobox 2h", "homeobox b2", "hox-2.8, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3212 ; - skos:exactMatch HGNC_symbol:HOXB2 ; + skos:exactMatch UMLS:C1415665, + HGNC:5113, + HGNC_symbol:HOXB2 ; biolink:category biolink:Gene . OMIM:142968 a owl:Class ; @@ -36087,14 +36957,15 @@ OMIM:142968 a owl:Class ; PMID:8967950 ; RO:0002525 CHR:9606chr17q21.32 ; RO:0003303 OMIM:614744 ; - oboInOwl:hasDbXref UMLS:C1415663 ; oboInOwl:hasExactSynonym "HOXB1", "homeobox 2i", "homeobox b1", "hox-2.9, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3211 ; - skos:exactMatch HGNC_symbol:HOXB1 ; + skos:exactMatch UMLS:C1415663, + HGNC:5111, + HGNC_symbol:HOXB1 ; biolink:category biolink:Gene . OMIM:142970 a owl:Class ; @@ -36107,28 +36978,30 @@ OMIM:142970 a owl:Class ; PMID:2886047, PMID:2898768, PMID:9707582 ; - oboInOwl:hasDbXref UMLS:C1415680 ; oboInOwl:hasExactSynonym "HOXC8", "homeobox 3a", "homeobox c8", "hox-3.1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3224 ; - skos:exactMatch HGNC_symbol:HOXC8 ; + skos:exactMatch UMLS:C1415680, + HGNC:5129, + HGNC_symbol:HOXC8 ; biolink:category biolink:Gene . OMIM:142971 a owl:Class ; rdfs:label "HOXC9" ; IAO:0000142 PMID:2574852, PMID:2576652 ; - oboInOwl:hasDbXref UMLS:C1415681 ; oboInOwl:hasExactSynonym "HOXC9", "homeobox 3b", "homeobox c9", "hox-3.2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3225 ; - skos:exactMatch HGNC_symbol:HOXC9 ; + skos:exactMatch UMLS:C1415681, + HGNC:5130, + HGNC_symbol:HOXC9 ; biolink:category biolink:Gene . OMIM:142972 a owl:Class ; @@ -36136,51 +37009,55 @@ OMIM:142972 a owl:Class ; IAO:0000142 PMID:2574852, PMID:2885844, PMID:8870653 ; - oboInOwl:hasDbXref UMLS:C1333923 ; oboInOwl:hasExactSynonym "HOXC6", "homeobox 3c", "homeobox c6", "hox-6.1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3223 ; - skos:exactMatch HGNC_symbol:HOXC6 ; + skos:exactMatch UMLS:C1333923, + HGNC:5128, + HGNC_symbol:HOXC6 ; biolink:category biolink:Gene . OMIM:142973 a owl:Class ; rdfs:label "HOXC5" ; IAO:0000142 PMID:1346761, PMID:2574852 ; - oboInOwl:hasDbXref UMLS:C1415679 ; oboInOwl:hasExactSynonym "HOXC5", "homeobox 3d", "homeobox c5", "hox-6.2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3222 ; - skos:exactMatch HGNC_symbol:HOXC5 ; + skos:exactMatch UMLS:C1415679, + HGNC:5127, + HGNC_symbol:HOXC5 ; biolink:category biolink:Gene . OMIM:142974 a owl:Class ; rdfs:label "HOXC4" ; IAO:0000142 PMID:8646877 ; - oboInOwl:hasDbXref UMLS:C1415678 ; oboInOwl:hasExactSynonym "HOXC4", "homeobox 3e", "homeobox c4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3221 ; - skos:exactMatch HGNC_symbol:HOXC4 ; + skos:exactMatch UMLS:C1415678, + HGNC:5126, + HGNC_symbol:HOXC4 ; biolink:category biolink:Gene . OMIM:142975 a owl:Class ; rdfs:label "HOXC12" ; - oboInOwl:hasDbXref UMLS:C1415676 ; oboInOwl:hasExactSynonym "HOXC12", "homeobox 3f", "homeobox c12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3228 ; - skos:exactMatch HGNC_symbol:HOXC12 ; + skos:exactMatch UMLS:C1415676, + HGNC:5124, + HGNC_symbol:HOXC12 ; biolink:category biolink:Gene . OMIM:142976 a owl:Class ; @@ -36191,15 +37068,16 @@ OMIM:142976 a owl:Class ; PMID:9420327 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:614931 ; - oboInOwl:hasDbXref UMLS:C1415677, - UMLS:C1840515 ; oboInOwl:hasExactSynonym "HOXC13", "homeobox 3g", "homeobox c13", "hoxc13/nup98 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3229 ; - skos:exactMatch HGNC_symbol:HOXC13 ; + skos:exactMatch UMLS:C1415677, + UMLS:C1840515, + HGNC:5125, + HGNC_symbol:HOXC13 ; biolink:category biolink:Gene . OMIM:142980 a owl:Class ; @@ -36212,28 +37090,30 @@ OMIM:142980 a owl:Class ; PMID:2575585, PMID:2886047, PMID:7742539 ; - oboInOwl:hasDbXref UMLS:C1415688 ; oboInOwl:hasExactSynonym "HOXD3", "homeobox 4a", "homeobox d3", "hox-4.1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3232 ; - skos:exactMatch HGNC_symbol:HOXD3 ; + skos:exactMatch UMLS:C1415688, + HGNC:5137, + HGNC_symbol:HOXD3 ; biolink:category biolink:Gene . OMIM:142982 a owl:Class ; rdfs:label "HOXD9" ; IAO:0000142 PMID:17066034, PMID:2574852 ; - oboInOwl:hasDbXref UMLS:C1415691 ; oboInOwl:hasExactSynonym "HOXD9", "homeobox 4c", "homeobox d9", "hox-4.3, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3235 ; - skos:exactMatch HGNC_symbol:HOXD9 ; + skos:exactMatch UMLS:C1415691, + HGNC:5140, + HGNC_symbol:HOXD9 ; biolink:category biolink:Gene . OMIM:142983 a owl:Class ; @@ -36267,7 +37147,6 @@ OMIM:142983 a owl:Class ; PMID:9742121 ; RO:0002525 CHR:9606chr4p16.2 ; RO:0003303 OMIM:106600 ; - oboInOwl:hasDbXref UMLS:C1417387 ; oboInOwl:hasExactSynonym "MSX1", "homeobox 7", "msh homeobox 1", @@ -36275,7 +37154,9 @@ OMIM:142983 a owl:Class ; "muscle segment homeobox, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4487 ; - skos:exactMatch HGNC_symbol:MSX1 ; + skos:exactMatch UMLS:C1417387, + HGNC:7391, + HGNC_symbol:MSX1 ; biolink:category biolink:Gene . OMIM:142984 a owl:Class ; @@ -36290,14 +37171,15 @@ OMIM:142984 a owl:Class ; PMID:9323126 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:192950 ; - oboInOwl:hasDbXref UMLS:C1415684 ; oboInOwl:hasExactSynonym "HOXD10", "homeobox 4d", "homeobox d10", "hox-4.4, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3236 ; - skos:exactMatch HGNC_symbol:HOXD10 ; + skos:exactMatch UMLS:C1415684, + HGNC:5133, + HGNC_symbol:HOXD10 ; biolink:category biolink:Gene . OMIM:142985 a owl:Class ; @@ -36307,14 +37189,15 @@ OMIM:142985 a owl:Class ; PMID:15105502, PMID:2574852, PMID:8100165 ; - oboInOwl:hasDbXref UMLS:C1415690 ; oboInOwl:hasExactSynonym "HOXD8", "homeobox 4e", "homeobox d8", "hox-4.5, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3234 ; - skos:exactMatch HGNC_symbol:HOXD8 ; + skos:exactMatch UMLS:C1415690, + HGNC:5139, + HGNC_symbol:HOXD8 ; biolink:category biolink:Gene . OMIM:142986 a owl:Class ; @@ -36328,8 +37211,6 @@ OMIM:142986 a owl:Class ; PMID:23239739, PMID:2574852, PMID:9323126 ; - oboInOwl:hasDbXref UMLS:C1415685, - UMLS:C1840501 ; oboInOwl:hasExactSynonym "HOXD11", "homeobox 4f", "homeobox d11", @@ -36337,7 +37218,10 @@ OMIM:142986 a owl:Class ; "hoxd11/nup98 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3237 ; - skos:exactMatch HGNC_symbol:HOXD11 ; + skos:exactMatch UMLS:C1415685, + UMLS:C1840501, + HGNC:5134, + HGNC_symbol:HOXD11 ; biolink:category biolink:Gene . OMIM:142987 a owl:Class ; @@ -36348,14 +37232,15 @@ OMIM:142987 a owl:Class ; PMID:15980115, PMID:23744951, PMID:25414315 ; - oboInOwl:hasDbXref UMLS:C1415683 ; oboInOwl:hasExactSynonym "HOXD1", "homeobox 4g", "homeobox d1", "hox-4.7, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3231 ; - skos:exactMatch HGNC_symbol:HOXD1 ; + skos:exactMatch UMLS:C1415683, + HGNC:5132, + HGNC_symbol:HOXD1 ; biolink:category biolink:Gene . OMIM:142988 a owl:Class ; @@ -36368,13 +37253,14 @@ OMIM:142988 a owl:Class ; PMID:20085705, PMID:23239739, PMID:9323126 ; - oboInOwl:hasDbXref UMLS:C1415686 ; oboInOwl:hasExactSynonym "HOXD12", "homeobox 4h", "homeobox d12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3238 ; - skos:exactMatch HGNC_symbol:HOXD12 ; + skos:exactMatch UMLS:C1415686, + HGNC:5135, + HGNC_symbol:HOXD12 ; biolink:category biolink:Gene . OMIM:142989 a owl:Class ; @@ -36424,13 +37310,14 @@ OMIM:142989 a owl:Class ; PMID:9758628 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:186000 ; - oboInOwl:hasDbXref UMLS:C1415687 ; oboInOwl:hasExactSynonym "HOXD13", "homeobox 4i", "homeobox d13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3239 ; - skos:exactMatch HGNC_symbol:HOXD13 ; + skos:exactMatch UMLS:C1415687, + HGNC:5136, + HGNC_symbol:HOXD13 ; biolink:category biolink:Gene . OMIM:142990 a owl:Class ; @@ -36443,13 +37330,14 @@ OMIM:142991 a owl:Class ; PMID:1675198, PMID:1971786, PMID:2877745 ; - oboInOwl:hasDbXref UMLS:C1414486 ; oboInOwl:hasExactSynonym "EVX2", "even-skipped homeobox 2", "homeobox evx-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344191 ; - skos:exactMatch HGNC_symbol:EVX2 ; + skos:exactMatch UMLS:C1414486, + HGNC:3507, + HGNC_symbol:EVX2 ; biolink:category biolink:Gene . OMIM:142992 a owl:Class ; @@ -36462,14 +37350,15 @@ OMIM:142992 a owl:Class ; PMID:9337406 ; RO:0002525 CHR:9606chr4p16.1 ; RO:0003303 OMIM:612109 ; - oboInOwl:hasDbXref UMLS:C1415622 ; oboInOwl:hasExactSynonym "HMX1", "h6 family homeobox 1", "homeobox gene h6", "nkx5.3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3166 ; - skos:exactMatch HGNC_symbol:HMX1 ; + skos:exactMatch UMLS:C1415622, + HGNC:5017, + HGNC_symbol:HMX1 ; biolink:category biolink:Gene . OMIM:142993 a owl:Class ; @@ -36485,14 +37374,15 @@ OMIM:142993 a owl:Class ; PMID:8630490 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:610093 ; - oboInOwl:hasDbXref UMLS:C1413420 ; oboInOwl:hasExactSynonym "VSX2", "ceh10 homeodomain-containing homolog", "homeobox 10", "visual system homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338917 ; - skos:exactMatch HGNC_symbol:VSX2 ; + skos:exactMatch UMLS:C1413420, + HGNC:1975, + HGNC_symbol:VSX2 ; biolink:category biolink:Gene . OMIM:142994 a owl:Class ; @@ -36511,14 +37401,15 @@ OMIM:142994 a owl:Class ; PMID:9843207 ; RO:0002525 CHR:9606chr7q36.3 ; RO:0003303 OMIM:176450 ; - oboInOwl:hasDbXref UMLS:C1415596 ; oboInOwl:hasExactSynonym "MNX1", "hb9", "homeobox gene hb9", "motor neuron and pancreas homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3110 ; - skos:exactMatch HGNC_symbol:MNX1 ; + skos:exactMatch UMLS:C1415596, + HGNC:4979, + HGNC_symbol:MNX1 ; biolink:category biolink:Gene . OMIM:142995 a owl:Class ; @@ -36527,7 +37418,6 @@ OMIM:142995 a owl:Class ; PMID:7806220, PMID:8094082, PMID:8095486 ; - oboInOwl:hasDbXref UMLS:C1415595 ; oboInOwl:hasExactSynonym "HLX", "h.20, drosophila, homolog of", "h.20-like homeobox", @@ -36535,20 +37425,23 @@ OMIM:142995 a owl:Class ; "homeobox gene hb24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3142 ; - skos:exactMatch HGNC_symbol:HLX ; + skos:exactMatch UMLS:C1415595, + HGNC:4978, + HGNC_symbol:HLX ; biolink:category biolink:Gene . OMIM:142996 a owl:Class ; rdfs:label "EVX1" ; IAO:0000142 PMID:1684419, PMID:1971786 ; - oboInOwl:hasDbXref UMLS:C1414485 ; oboInOwl:hasExactSynonym "EVX1", "even-skipped homeobox 1", "homeobox evx-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2128 ; - skos:exactMatch HGNC_symbol:EVX1 ; + skos:exactMatch UMLS:C1414485, + HGNC:3506, + HGNC_symbol:EVX1 ; biolink:category biolink:Gene . OMIM:143000 a owl:Class ; @@ -36557,8 +37450,8 @@ OMIM:143000 a owl:Class ; PMID:1548493, PMID:3538884, PMID:7991269 ; - oboInOwl:hasDbXref UMLS:C1840475 ; oboInOwl:hasExactSynonym "horner syndrome, congenital" ; + skos:exactMatch UMLS:C1840475 ; biolink:category biolink:Disease . OMIM:143010 a owl:Class ; @@ -36568,7 +37461,6 @@ OMIM:143010 a owl:Class ; PMID:2825194, PMID:9486650, PMID:9660937 ; - oboInOwl:hasDbXref UMLS:C1415585 ; oboInOwl:hasExactSynonym "HLA-E", "hla-6.2", "hla-e histocompatibility iia", @@ -36577,7 +37469,9 @@ OMIM:143010 a owl:Class ; "qa1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3133 ; - skos:exactMatch HGNC_symbol:HLA-E ; + skos:exactMatch UMLS:C1415585, + HGNC:4962, + HGNC_symbol:HLA-E ; biolink:category biolink:Gene . OMIM:143020 a owl:Class ; @@ -36588,47 +37482,50 @@ OMIM:143020 a owl:Class ; PMID:6266912, PMID:81926, PMID:84107 ; - oboInOwl:hasDbXref UMLS:C1840474 ; oboInOwl:hasExactSynonym "HPA1", "hpa 1 recognition polymorphism, beta-globin-related", - "restriction fragment length polymorphism, sickle cell anemia-related" . + "restriction fragment length polymorphism, sickle cell anemia-related" ; + skos:exactMatch UMLS:C1840474 . OMIM:143023 a owl:Class ; rdfs:label "RASSF7" ; IAO:0000142 PMID:1339391, PMID:18272789 ; - oboInOwl:hasDbXref UMLS:C1826767 ; oboInOwl:hasExactSynonym "RASSF7", "chromosome 11 open reading frame 13", "hras1-related cluster 1", "ras association domain family, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8045 ; - skos:exactMatch HGNC_symbol:RASSF7 ; + skos:exactMatch UMLS:C1826767, + HGNC:1166, + HGNC_symbol:RASSF7 ; biolink:category biolink:Gene . OMIM:143024 a owl:Class ; rdfs:label "GNL1" ; IAO:0000142 PMID:8180467 ; - oboInOwl:hasDbXref UMLS:C1415163 ; oboInOwl:hasExactSynonym "GNL1", "guanine nucleotide-binding protein-like 1", "hsr1 gtp-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2794 ; - skos:exactMatch HGNC_symbol:GNL1 ; + skos:exactMatch UMLS:C1415163, + HGNC:4413, + HGNC_symbol:GNL1 ; biolink:category biolink:Gene . OMIM:143025 a owl:Class ; rdfs:label "HRES1" ; IAO:0000142 PMID:10400920, PMID:1783388 ; - oboInOwl:hasDbXref UMLS:C1415720 ; oboInOwl:hasExactSynonym "HRES1", "htlv-related endogenous sequence 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3272 ; - skos:exactMatch HGNC_symbol:HRES1 ; + skos:exactMatch UMLS:C1415720, + HGNC:5180, + HGNC_symbol:HRES1 ; biolink:category biolink:Gene . OMIM:143040 a owl:Class ; @@ -36637,10 +37534,10 @@ OMIM:143040 a owl:Class ; PMID:3001710, PMID:6382636, PMID:667938 ; - oboInOwl:hasDbXref UMLS:C1840473 ; oboInOwl:hasExactSynonym "antigen defined by monoclonal antibody f10.44.2", "human leukocyte antigen mic4" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1840473 ; biolink:category biolink:Gene . OMIM:143050 a owl:Class ; @@ -36649,8 +37546,8 @@ OMIM:143050 a owl:Class ; PMID:1269169, PMID:1274395, PMID:5986056 ; - oboInOwl:hasDbXref UMLS:C2930865 ; - oboInOwl:hasExactSynonym "humeroradial synostosis" . + oboInOwl:hasExactSynonym "humeroradial synostosis" ; + skos:exactMatch UMLS:C2930865 . OMIM:143054 a owl:Class ; rdfs:label "HIVEP2" ; @@ -36667,7 +37564,6 @@ OMIM:143054 a owl:Class ; PMID:27003583 ; RO:0002525 CHR:9606chr6q24.2 ; RO:0003303 OMIM:616977 ; - oboInOwl:hasDbXref UMLS:C1415553 ; oboInOwl:hasExactSynonym "HIVEP2", "human immunodeficiency virus iia 1 enhancer-binding protein 2", "major histocompatibility complex-binding protein 2", @@ -36677,17 +37573,19 @@ OMIM:143054 a owl:Class ; "zas family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3097 ; - skos:exactMatch HGNC_symbol:HIVEP2 ; + skos:exactMatch UMLS:C1415553, + HGNC:4921, + HGNC_symbol:HIVEP2 ; biolink:category biolink:Gene . OMIM:143060 a owl:Class ; rdfs:label "MIC6" ; IAO:0000142 PMID:6984317 ; - oboInOwl:hasDbXref UMLS:C1840472 ; oboInOwl:hasExactSynonym "MIC6", "antigen defined by monoclonal antibody h207", "human leukocyte antigen mic6" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1840472 ; biolink:category biolink:Gene . OMIM:143065 a owl:Class ; @@ -36703,12 +37601,13 @@ OMIM:143080 a owl:Class ; OMIM:143089 a owl:Class ; rdfs:label "HTLF" ; IAO:0000142 PMID:1639393 ; - oboInOwl:hasDbXref UMLS:C1825310 ; oboInOwl:hasExactSynonym "HTLF", "human t-cell leukemia virus enhancer factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3344 ; - skos:exactMatch HGNC_symbol:FOXN2 ; + skos:exactMatch UMLS:C1825310, + HGNC:5281, + HGNC_symbol:FOXN2 ; biolink:category biolink:Gene . OMIM:143090 a owl:Class ; @@ -37102,12 +38001,12 @@ OMIM:143100 a owl:Class ; PMID:9778239, PMID:9778247, PMID:9949199 ; - oboInOwl:hasDbXref UMLS:C0020179, - ORPHA:248111, - ORPHA:399 ; oboInOwl:hasExactSynonym "HD", "huntington chorea", "huntington disease" ; + skos:exactMatch UMLS:C0020179, + ORPHA:248111, + ORPHA:399 ; biolink:category biolink:Disease . OMIM:143110 a owl:Class ; @@ -37120,7 +38019,6 @@ OMIM:143110 a owl:Class ; PMID:7649553, PMID:8363724, PMID:8518796 ; - oboInOwl:hasDbXref UMLS:C1415586 ; oboInOwl:hasExactSynonym "HLA-F", "cda12 class 1 gene", "hla-5.4", @@ -37129,7 +38027,9 @@ OMIM:143110 a owl:Class ; "major histocompatibility complex, class i, f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3134 ; - skos:exactMatch HGNC_symbol:HLA-F ; + skos:exactMatch UMLS:C1415586, + HGNC:4963, + HGNC_symbol:HLA-F ; biolink:category biolink:Gene . OMIM:143150 a owl:Class ; @@ -37139,13 +38039,14 @@ OMIM:143150 a owl:Class ; OMIM:143170 a owl:Class ; rdfs:label "MEA1" ; IAO:0000142 PMID:12755172 ; - oboInOwl:hasDbXref UMLS:C1825957 ; oboInOwl:hasExactSynonym "MEA1", "male-enhanced antigen 1", "mea" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4201 ; - skos:exactMatch HGNC_symbol:MEA1 ; + skos:exactMatch UMLS:C1825957, + HGNC:6986, + HGNC_symbol:MEA1 ; biolink:category biolink:Gene . OMIM:144010 a owl:Class ; @@ -37162,9 +38063,6 @@ OMIM:144010 a owl:Class ; PMID:52771, PMID:7883971, PMID:9108789 ; - oboInOwl:hasDbXref UMLS:C1704417, - UMLS:C3888316, - ORPHA:391665 ; oboInOwl:hasExactSynonym "FHCL2", "apolipoprotein b-100, familial defective", "apolipoprotein b-100, familial ligand-defective", @@ -37172,30 +38070,33 @@ OMIM:144010 a owl:Class ; "hypercholesterolemia, familial, 2", "hypercholesterolemia, familial, due to ligand-defective apolipoprotein B" ; rdfs:subClassOf OMIMPS:143890 ; + skos:exactMatch UMLS:C1704417, + UMLS:C3888316, + ORPHA:391665 ; biolink:category biolink:Disease . OMIM:144020 a owl:Class ; rdfs:label "hypercholesterolemia suppressor" ; IAO:0000142 PMID:2760205 ; - oboInOwl:hasDbXref UMLS:C1840430 ; - oboInOwl:hasExactSynonym "hypercholesterolemia suppressor" . + oboInOwl:hasExactSynonym "hypercholesterolemia suppressor" ; + skos:exactMatch UMLS:C1840430 . OMIM:144050 a owl:Class ; rdfs:label "hyperheparinemia" ; IAO:0000142 PMID:13347053 ; - oboInOwl:hasDbXref UMLS:C3203346 ; - oboInOwl:hasExactSynonym "hyperheparinemia" . + oboInOwl:hasExactSynonym "hyperheparinemia" ; + skos:exactMatch UMLS:C3203346 . OMIM:144100 a owl:Class ; rdfs:label "hyperhidrosis, gustatory" ; IAO:0000142 PMID:12269550, PMID:16344505 ; - oboInOwl:hasDbXref UMLS:C0038994 ; oboInOwl:hasExactSynonym "HYPRG", "auriculotemporal nerve syndrome", "frey syndrome", "gustatory sweating", - "hyperhidrosis, gustatory" . + "hyperhidrosis, gustatory" ; + skos:exactMatch UMLS:C0038994 . OMIM:144120 a owl:Class ; rdfs:label "hyperimmunoglobulin g1(a1) syndrome" ; @@ -37203,15 +38104,15 @@ OMIM:144120 a owl:Class ; PMID:2498199, PMID:3261155 ; RO:0002525 CHR:9606chr14q32.33 ; - oboInOwl:hasDbXref UMLS:C1840429 ; - oboInOwl:hasExactSynonym "hyperimmunoglobulin g1(a1) syndrome" . + oboInOwl:hasExactSynonym "hyperimmunoglobulin g1(a1) syndrome" ; + skos:exactMatch UMLS:C1840429 . OMIM:144190 a owl:Class ; rdfs:label "hyperkeratosis-hyperpigmentation syndrome" ; IAO:0000142 PMID:151611, PMID:8448904 ; - oboInOwl:hasDbXref UMLS:C1840428 ; - oboInOwl:hasExactSynonym "hyperkeratosis-hyperpigmentation syndrome" . + oboInOwl:hasExactSynonym "hyperkeratosis-hyperpigmentation syndrome" ; + skos:exactMatch UMLS:C1840428 . OMIM:144250 a owl:Class ; rdfs:label "hyperlipidemia, familial combined, 3" ; @@ -37246,17 +38147,17 @@ OMIM:144250 a owl:Class ; PMID:9484986, PMID:9683593, PMID:9683614 ; - oboInOwl:hasDbXref UMLS:C0020474 ; oboInOwl:hasExactSynonym "FCHL3", "familial combined hyperlipidemia", "hyperlipidemia, familial combined, 3" ; + skos:exactMatch UMLS:C0020474 ; biolink:category biolink:Disease . OMIM:144300 a owl:Class ; rdfs:label "hyperlipoproteinemia, iia ii, and deafness" ; IAO:0000142 PMID:4191529 ; - oboInOwl:hasDbXref UMLS:C1840425 ; - oboInOwl:hasExactSynonym "hyperlipoproteinemia, iia ii, and deafness" . + oboInOwl:hasExactSynonym "hyperlipoproteinemia, iia ii, and deafness" ; + skos:exactMatch UMLS:C1840425 . OMIM:144400 a owl:Class ; IAO:0100001 OMIM:143890 ; @@ -37266,9 +38167,9 @@ OMIM:144600 a owl:Class ; rdfs:label "hyperlipoproteinemia, iia 4" ; IAO:0000142 PMID:4115343, PMID:5824739 ; - oboInOwl:hasDbXref UMLS:C0020480 ; oboInOwl:hasExactSynonym "carbohydrate-inducible hyperlipemia", - "hyperlipoproteinemia, iia 4" . + "hyperlipoproteinemia, iia 4" ; + skos:exactMatch UMLS:C0020480 . OMIM:144755 a owl:Class ; rdfs:label "hyperostosis cranialis interna" ; @@ -37276,9 +38177,9 @@ OMIM:144755 a owl:Class ; PMID:2300107, PMID:23640157, PMID:29621230 ; - oboInOwl:hasDbXref UMLS:C1840404 ; oboInOwl:hasExactSynonym "HCIN", "hyperostosis cranialis interna" ; + skos:exactMatch UMLS:C1840404 ; biolink:category biolink:Disease . OMIM:144800 a owl:Class ; @@ -37286,9 +38187,9 @@ OMIM:144800 a owl:Class ; IAO:0000142 PMID:4659165, PMID:4721177, PMID:6131191 ; - oboInOwl:hasDbXref UMLS:C0020494 ; oboInOwl:hasExactSynonym "hyperostosis frontalis interna", - "morgagni-stewart-morel syndrome" . + "morgagni-stewart-morel syndrome" ; + skos:exactMatch UMLS:C0020494 . OMIM:145000 a owl:Class ; rdfs:label "hyperparathyroidism 1" ; @@ -37323,57 +38224,57 @@ OMIM:145000 a owl:Class ; PMID:9626148, PMID:9792884, PMID:984613 ; - oboInOwl:hasDbXref UMLS:C1840402, - UMLS:C1840403, - UMLS:C4551961 ; oboInOwl:hasExactSynonym "HRPT1", "hyperparathyroidism 1", "hyperparathyroidism, familial isolated primary", "parathyroid adenoma, familial" ; rdfs:subClassOf OMIMPS:145000 ; + skos:exactMatch UMLS:C1840402, + UMLS:C1840403, + UMLS:C4551961 ; biolink:category biolink:Disease . OMIM:145100 a owl:Class ; rdfs:label "hyperpigmentation of eyelids" ; IAO:0000142 PMID:13955807, PMID:5797956 ; - oboInOwl:hasDbXref UMLS:C0155211 ; oboInOwl:hasExactSynonym "hyperpigmentation of eyelids" ; + skos:exactMatch UMLS:C0155211 ; biolink:category biolink:Disease . OMIM:145200 a owl:Class ; rdfs:label "hyperpigmentation of fuldauer and kuijpers" ; IAO:0000142 PMID:14222004 ; - oboInOwl:hasDbXref UMLS:C1840393 ; - oboInOwl:hasExactSynonym "hyperpigmentation of fuldauer and kuijpers" . + oboInOwl:hasExactSynonym "hyperpigmentation of fuldauer and kuijpers" ; + skos:exactMatch UMLS:C1840393 . OMIM:145270 a owl:Class ; rdfs:label "hyperproglucagonemia" ; IAO:0000142 PMID:641153, PMID:979644 ; - oboInOwl:hasDbXref UMLS:C1840388 ; oboInOwl:hasExactSynonym "glucagon, large molecular weight species of", - "hyperproglucagonemia" . + "hyperproglucagonemia" ; + skos:exactMatch UMLS:C1840388 . OMIM:145295 a owl:Class ; rdfs:label "hypersecretion of adrenal androgens, familial" ; IAO:0000142 PMID:3808511 ; - oboInOwl:hasDbXref UMLS:C1840387 ; - oboInOwl:hasExactSynonym "hypersecretion of adrenal androgens, familial" . + oboInOwl:hasExactSynonym "hypersecretion of adrenal androgens, familial" ; + skos:exactMatch UMLS:C1840387 . OMIM:145300 a owl:Class ; rdfs:label "hypersensitivity pneumonitis, familial" ; IAO:0000142 PMID:1080953 ; - oboInOwl:hasDbXref UMLS:C1840386 ; - oboInOwl:hasExactSynonym "hypersensitivity pneumonitis, familial" . + oboInOwl:hasExactSynonym "hypersensitivity pneumonitis, familial" ; + skos:exactMatch UMLS:C1840386 . OMIM:145400 a owl:Class ; rdfs:label "hypertelorism" ; IAO:0000142 PMID:13206986, PMID:21031712, PMID:8636632 ; - oboInOwl:hasDbXref UMLS:C0020534 ; oboInOwl:hasExactSynonym "hypertelorism" ; + skos:exactMatch UMLS:C0020534 ; biolink:category biolink:Disease . OMIM:145410 a owl:Class ; @@ -37426,8 +38327,8 @@ OMIM:145410 a owl:Class ; PMID:8882795, PMID:955638 ; IAO:0100001 OMIM:145420 ; - oboInOwl:hasDbXref UMLS:C1801950 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1801950 . OMIM:145505 a owl:Class ; rdfs:label "ACSM3" ; @@ -37439,20 +38340,21 @@ OMIM:145505 a owl:Class ; PMID:8135833, PMID:8254174 ; RO:0002525 CHR:9606chr16p12.3 ; - oboInOwl:hasDbXref UMLS:C1825840 ; oboInOwl:hasExactSynonym "ACSM3", "acyl-coa synthetase medium chain family, member 3", "sa, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6296 ; - skos:exactMatch HGNC_symbol:ACSM3 ; + skos:exactMatch UMLS:C1825840, + HGNC:10522, + HGNC_symbol:ACSM3 ; biolink:category biolink:Gene . OMIM:145590 a owl:Class ; rdfs:label "hyperthermia, cutaneous, with headaches and nausea" ; - oboInOwl:hasDbXref UMLS:C1840373 ; oboInOwl:hasExactSynonym "farmer syndrome", - "hyperthermia, cutaneous, with headaches and nausea" . + "hyperthermia, cutaneous, with headaches and nausea" ; + skos:exactMatch UMLS:C1840373 . OMIM:145700 a owl:Class ; rdfs:label "hypertrichosis lanuginosa congenita" ; @@ -37462,16 +38364,16 @@ OMIM:145700 a owl:Class ; PMID:5424483, PMID:5808538, PMID:991438 ; - oboInOwl:hasDbXref UMLS:C0235864 ; oboInOwl:hasExactSynonym "hypertrichosis lanuginosa congenita", "hypertrichosis universalis" ; + skos:exactMatch UMLS:C0235864 ; biolink:category biolink:Disease . OMIM:145800 a owl:Class ; rdfs:label "hypertrophia musculorum vera" ; IAO:0000142 PMID:5100002 ; - oboInOwl:hasDbXref UMLS:C1840361 ; oboInOwl:hasExactSynonym "hypertrophia musculorum vera" ; + skos:exactMatch UMLS:C1840361 ; biolink:category biolink:Disease . OMIM:145980 a owl:Class ; @@ -37532,9 +38434,6 @@ OMIM:145980 a owl:Class ; PMID:871127, PMID:9011580, PMID:9109436 ; - oboInOwl:hasDbXref UMLS:C0342637, - ORPHA:405, - ORPHA:93372 ; oboInOwl:hasExactSynonym "HHC1", "familial benign hypercalcemia 1", "fhh1", @@ -37543,6 +38442,9 @@ OMIM:145980 a owl:Class ; "hypocalciuric hypercalcemia, acquired", "hypocalciuric hypercalcemia, familial, iia 1" ; rdfs:subClassOf OMIMPS:145980 ; + skos:exactMatch UMLS:C0342637, + ORPHA:405, + ORPHA:93372 ; biolink:category biolink:Disease . OMIM:146000 a owl:Class ; @@ -37568,9 +38470,9 @@ OMIM:146000 a owl:Class ; PMID:8880574, PMID:9450868, PMID:9672519 ; - oboInOwl:hasDbXref UMLS:C0410529 ; oboInOwl:hasExactSynonym "HCH", "hypochondroplasia" ; + skos:exactMatch UMLS:C0410529 ; biolink:category biolink:Disease . OMIM:146150 a owl:Class ; @@ -37580,9 +38482,9 @@ OMIM:146150 a owl:Class ; OMIM:146160 a owl:Class ; rdfs:label "hypomelia with mullerian duct anomalies" ; IAO:0000142 PMID:3706400 ; - oboInOwl:hasDbXref UMLS:C1840335 ; oboInOwl:hasExactSynonym "hypomelia with mullerian duct anomalies", - "limb-uterus syndrome" . + "limb-uterus syndrome" ; + skos:exactMatch UMLS:C1840335 . OMIM:146400 a owl:Class ; IAO:0100001 OMIM:125400 ; @@ -37624,10 +38526,10 @@ OMIM:146510 a owl:Class ; PMID:8950676, PMID:9054938, PMID:9192261 ; - oboInOwl:hasDbXref UMLS:C0265220 ; oboInOwl:hasExactSynonym "PHS", "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly", "pallister-hall syndrome" ; + skos:exactMatch UMLS:C0265220 ; biolink:category biolink:Disease . OMIM:146520 a owl:Class ; @@ -37638,13 +38540,13 @@ OMIM:146520 a owl:Class ; PMID:2063912, PMID:3652491, PMID:4141628 ; - oboInOwl:hasDbXref UMLS:C1840299 ; oboInOwl:hasExactSynonym "HYPT2", "htss", "hypotrichosis 2", "hypotrichosis simplex of the scalp 1", "hypotrichosis, spanish iia" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C1840299 ; biolink:category biolink:Disease . OMIM:146530 a owl:Class ; @@ -37653,8 +38555,8 @@ OMIM:146530 a owl:Class ; OMIM:146580 a owl:Class ; rdfs:label "hypoxanthine guanine phosphoribosyltransferase suppressor" ; - oboInOwl:hasDbXref UMLS:C1840297 ; - oboInOwl:hasExactSynonym "hypoxanthine guanine phosphoribosyltransferase suppressor" . + oboInOwl:hasExactSynonym "hypoxanthine guanine phosphoribosyltransferase suppressor" ; + skos:exactMatch UMLS:C1840297 . OMIM:146590 a owl:Class ; rdfs:label "ichthyosis hystrix, curth-macklin iia" ; @@ -37666,9 +38568,9 @@ OMIM:146590 a owl:Class ; PMID:4630590, PMID:7504030, PMID:78862 ; - oboInOwl:hasDbXref UMLS:C1840296 ; oboInOwl:hasExactSynonym "IHCM", "ichthyosis hystrix, curth-macklin iia" ; + skos:exactMatch UMLS:C1840296 ; biolink:category biolink:Disease . OMIM:146600 a owl:Class ; @@ -37676,22 +38578,23 @@ OMIM:146600 a owl:Class ; IAO:0000142 PMID:13534212, PMID:78862, PMID:935508 ; - oboInOwl:hasDbXref UMLS:C0432311 ; oboInOwl:hasExactSynonym "ichthyosis hystrix gravior", "ichthyosis, lambert iia", - "porcupine man" . + "porcupine man" ; + skos:exactMatch UMLS:C0432311 . OMIM:146630 a owl:Class ; rdfs:label "ICAM2" ; IAO:0000142 PMID:11825565, PMID:1769660, PMID:2497351 ; - oboInOwl:hasDbXref UMLS:C1334075 ; oboInOwl:hasExactSynonym "ICAM2", "intercellular adhesion molecule 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3384 ; - skos:exactMatch HGNC_symbol:ICAM2 ; + skos:exactMatch UMLS:C1334075, + HGNC:5345, + HGNC_symbol:ICAM2 ; biolink:category biolink:Gene . OMIM:146631 a owl:Class ; @@ -37699,12 +38602,13 @@ OMIM:146631 a owl:Class ; IAO:0000142 PMID:1448173, PMID:1448174, PMID:7851905 ; - oboInOwl:hasDbXref UMLS:C1334076 ; oboInOwl:hasExactSynonym "ICAM3", "intercellular adhesion molecule 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3385 ; - skos:exactMatch HGNC_symbol:ICAM3 ; + skos:exactMatch UMLS:C1334076, + HGNC:5346, + HGNC_symbol:ICAM3 ; biolink:category biolink:Gene . OMIM:146640 a owl:Class ; @@ -37715,12 +38619,13 @@ OMIM:146640 a owl:Class ; PMID:2465147, PMID:2476436, PMID:7505744 ; - oboInOwl:hasDbXref UMLS:C1416507 ; oboInOwl:hasExactSynonym "ITIH2", "inter-alpha-trypsin inhibitor, heavy chain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3698 ; - skos:exactMatch HGNC_symbol:ITIH2 ; + skos:exactMatch UMLS:C1416507, + HGNC:6167, + HGNC_symbol:ITIH2 ; biolink:category biolink:Gene . OMIM:146650 a owl:Class ; @@ -37731,12 +38636,13 @@ OMIM:146650 a owl:Class ; PMID:2476436, PMID:7681778, PMID:9756925 ; - oboInOwl:hasDbXref UMLS:C1416508 ; oboInOwl:hasExactSynonym "ITIH3", "inter-alpha-trypsin inhibitor, heavy chain 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3699 ; - skos:exactMatch HGNC_symbol:ITIH3 ; + skos:exactMatch UMLS:C1416508, + HGNC:6168, + HGNC_symbol:ITIH3 ; biolink:category biolink:Gene . OMIM:146660 a owl:Class ; @@ -37762,12 +38668,13 @@ OMIM:146660 a owl:Class ; PMID:7769137 ; RO:0002525 CHR:9606chr8q21.13 ; RO:0003303 OMIM:618309 ; - oboInOwl:hasDbXref UMLS:C1334124 ; oboInOwl:hasExactSynonym "IL7", "interleukin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3574 ; - skos:exactMatch HGNC_symbol:IL7 ; + skos:exactMatch UMLS:C1334124, + HGNC:6023, + HGNC_symbol:IL7 ; biolink:category biolink:Gene . OMIM:146661 a owl:Class ; @@ -37796,9 +38703,6 @@ OMIM:146661 a owl:Class ; PMID:9843216 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:608971 ; - oboInOwl:hasDbXref UMLS:C1334123, - UMLS:C1837028, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "IL7R", "cd127", "il7r-alpha", @@ -37806,7 +38710,11 @@ OMIM:146661 a owl:Class ; "interleukin 7 receptor-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3575 ; - skos:exactMatch HGNC_symbol:IL7R ; + skos:exactMatch UMLS:C1334123, + UMLS:C1837028, + UMLS:C4015968, + HGNC:6024, + HGNC_symbol:IL7R ; biolink:category biolink:Gene . OMIM:146680 a owl:Class ; @@ -37829,14 +38737,15 @@ OMIM:146680 a owl:Class ; PMID:3059494, PMID:9045694, PMID:9830016 ; - oboInOwl:hasDbXref UMLS:C1415875 ; oboInOwl:hasExactSynonym "IDE", "insulin-degrading enzyme", "insulinase", "insulysin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3416 ; - skos:exactMatch HGNC_symbol:IDE ; + skos:exactMatch UMLS:C1415875, + HGNC:5381, + HGNC_symbol:IDE ; biolink:category biolink:Gene . OMIM:146691 a owl:Class ; @@ -37849,13 +38758,14 @@ OMIM:146691 a owl:Class ; PMID:9858805 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:617995 ; - oboInOwl:hasDbXref UMLS:C1416428 ; oboInOwl:hasExactSynonym "IMPDH2", "imp dehydrogenase 2", "inosine-5-prime-monophosphate dehydrogenase, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3615 ; - skos:exactMatch HGNC_symbol:IMPDH2 ; + skos:exactMatch UMLS:C1416428, + HGNC:6053, + HGNC_symbol:IMPDH2 ; biolink:category biolink:Gene . OMIM:146692 a owl:Class ; @@ -37881,9 +38791,9 @@ OMIM:146700 a owl:Class ; PMID:6951797, PMID:78862, PMID:9620289 ; - oboInOwl:hasDbXref UMLS:C0079584 ; oboInOwl:hasExactSynonym "ichthyosis simplex", "ichthyosis vulgaris" ; + skos:exactMatch UMLS:C0079584 ; biolink:category biolink:Disease . OMIM:146710 a owl:Class ; @@ -37904,13 +38814,14 @@ OMIM:146710 a owl:Class ; PMID:8026467 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:618495 ; - oboInOwl:hasDbXref UMLS:C1334115 ; oboInOwl:hasExactSynonym "IL2RB", "cd122 antigen", "interleukin 2 receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3560 ; - skos:exactMatch HGNC_symbol:IL2RB ; + skos:exactMatch UMLS:C1334115, + HGNC:6009, + HGNC_symbol:IL2RB ; biolink:category biolink:Gene . OMIM:146720 a owl:Class ; @@ -37919,9 +38830,9 @@ OMIM:146720 a owl:Class ; PMID:3568439, PMID:3621667, PMID:483158 ; - oboInOwl:hasDbXref UMLS:C1840283 ; oboInOwl:hasExactSynonym "ice syndrome", - "ichthyosis--cheek--eyebrow syndrome" . + "ichthyosis--cheek--eyebrow syndrome" ; + skos:exactMatch UMLS:C1840283 . OMIM:146730 a owl:Class ; rdfs:label "IGFBP1" ; @@ -37936,7 +38847,6 @@ OMIM:146730 a owl:Class ; PMID:2461294, PMID:2478445, PMID:2849945 ; - oboInOwl:hasDbXref UMLS:C1334092 ; oboInOwl:hasExactSynonym "IGFBP1", "ibp1", "igf-bp25", @@ -37944,7 +38854,9 @@ OMIM:146730 a owl:Class ; "placental protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3484 ; - skos:exactMatch HGNC_symbol:IGFBP1 ; + skos:exactMatch UMLS:C1334092, + HGNC:5469, + HGNC_symbol:IGFBP1 ; biolink:category biolink:Gene . OMIM:146731 a owl:Class ; @@ -37954,14 +38866,15 @@ OMIM:146731 a owl:Class ; PMID:2464130, PMID:2478445, PMID:7511611 ; - oboInOwl:hasDbXref UMLS:C1334093 ; oboInOwl:hasExactSynonym "IGFBP2", "ibp2", "igf-bp53", "insulin-like growth factor-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3485 ; - skos:exactMatch HGNC_symbol:IGFBP2 ; + skos:exactMatch UMLS:C1334093, + HGNC:5471, + HGNC_symbol:IGFBP2 ; biolink:category biolink:Gene . OMIM:146732 a owl:Class ; @@ -37981,13 +38894,14 @@ OMIM:146732 a owl:Class ; PMID:17567756, PMID:2464130, PMID:2555997 ; - oboInOwl:hasDbXref UMLS:C1334094 ; oboInOwl:hasExactSynonym "IGFBP3", "ibp3", "insulin-like growth factor-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3486 ; - skos:exactMatch HGNC_symbol:IGFBP3 ; + skos:exactMatch UMLS:C1334094, + HGNC:5472, + HGNC_symbol:IGFBP3 ; biolink:category biolink:Gene . OMIM:146733 a owl:Class ; @@ -37999,13 +38913,14 @@ OMIM:146733 a owl:Class ; PMID:18528331, PMID:7507078, PMID:9615225 ; - oboInOwl:hasDbXref UMLS:C1334095 ; oboInOwl:hasExactSynonym "IGFBP4", "ibp4", "insulin-like growth factor-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3487 ; - skos:exactMatch HGNC_symbol:IGFBP4 ; + skos:exactMatch UMLS:C1334095, + HGNC:5473, + HGNC_symbol:IGFBP4 ; biolink:category biolink:Gene . OMIM:146734 a owl:Class ; @@ -38017,13 +38932,14 @@ OMIM:146734 a owl:Class ; PMID:24855947, PMID:7511611, PMID:7525452 ; - oboInOwl:hasDbXref UMLS:C1334096 ; oboInOwl:hasExactSynonym "IGFBP5", "ibp5", "insulin-like growth factor-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3488 ; - skos:exactMatch HGNC_symbol:IGFBP5 ; + skos:exactMatch UMLS:C1334096, + HGNC:5474, + HGNC_symbol:IGFBP5 ; biolink:category biolink:Gene . OMIM:146735 a owl:Class ; @@ -38031,13 +38947,14 @@ OMIM:146735 a owl:Class ; IAO:0000142 PMID:1719383, PMID:1850258, PMID:7539002 ; - oboInOwl:hasDbXref UMLS:C1367148 ; oboInOwl:hasExactSynonym "IGFBP6", "ibp6", "insulin-like growth factor-binding protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3489 ; - skos:exactMatch HGNC_symbol:IGFBP6 ; + skos:exactMatch UMLS:C1367148, + HGNC:5475, + HGNC_symbol:IGFBP6 ; biolink:category biolink:Gene . OMIM:146738 a owl:Class ; @@ -38056,14 +38973,15 @@ OMIM:146738 a owl:Class ; PMID:9605933 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:219050 ; - oboInOwl:hasDbXref UMLS:C1416453 ; oboInOwl:hasExactSynonym "INSL3", "insulin-like 3", "insulin-like peptide, leydig cell-specific", "relaxin-like factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3640 ; - skos:exactMatch HGNC_symbol:INSL3 ; + skos:exactMatch UMLS:C1416453, + HGNC:6086, + HGNC_symbol:INSL3 ; biolink:category biolink:Gene . OMIM:146760 a owl:Class ; @@ -38082,9 +39000,6 @@ OMIM:146760 a owl:Class ; PMID:8752900, PMID:9120261 ; RO:0002525 CHR:9606chr1q21.2 ; - oboInOwl:hasDbXref UMLS:C1414550, - UMLS:C4016211, - UMLS:C4017539 ; oboInOwl:hasExactSynonym "FCGR1A", "cd64", "cd64a", @@ -38093,7 +39008,11 @@ OMIM:146760 a owl:Class ; "immunoglobulin g fc receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2209 ; - skos:exactMatch HGNC_symbol:FCGR1A ; + skos:exactMatch UMLS:C1414550, + UMLS:C4016211, + UMLS:C4017539, + HGNC:3613, + HGNC_symbol:FCGR1A ; biolink:category biolink:Gene . OMIM:146771 a owl:Class ; @@ -38103,12 +39022,13 @@ OMIM:146771 a owl:Class ; OMIM:146780 a owl:Class ; rdfs:label "IGKDEL" ; IAO:0000142 PMID:3086844 ; - oboInOwl:hasDbXref UMLS:C1416164 ; oboInOwl:hasExactSynonym "IGKDEL", "immunoglobulin kappa deleting element" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3515 ; - skos:exactMatch HGNC_symbol:IGKDEL ; + skos:exactMatch UMLS:C1416164, + HGNC:5717, + HGNC_symbol:IGKDEL ; biolink:category biolink:Gene . OMIM:146790 a owl:Class ; @@ -38133,10 +39053,6 @@ OMIM:146790 a owl:Class ; PMID:9843982 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:219700 ; - oboInOwl:hasDbXref UMLS:C1414553, - UMLS:C1840270, - UMLS:C1970029, - UMLS:C4016213 ; oboInOwl:hasExactSynonym "FCGR2A", "cd32", "cdw32", @@ -38146,22 +39062,27 @@ OMIM:146790 a owl:Class ; "immunoglobulin g fc receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2212 ; - skos:exactMatch HGNC_symbol:FCGR2A ; + skos:exactMatch UMLS:C1414553, + UMLS:C1840270, + UMLS:C1970029, + UMLS:C4016213, + HGNC:3616, + HGNC_symbol:FCGR2A ; biolink:category biolink:Gene . OMIM:146810 a owl:Class ; rdfs:label "immune response to synthetic polypeptide--irphegal" ; IAO:0000142 PMID:6427771 ; - oboInOwl:hasDbXref UMLS:C1840268 ; oboInOwl:hasExactSynonym "IPHEG", - "immune response to synthetic polypeptide--irphegal" . + "immune response to synthetic polypeptide--irphegal" ; + skos:exactMatch UMLS:C1840268 . OMIM:146830 a owl:Class ; rdfs:label "immune deficiency, familial variable" ; IAO:0000142 PMID:1080516, PMID:14064316 ; - oboInOwl:hasDbXref UMLS:C1840266 ; - oboInOwl:hasExactSynonym "immune deficiency, familial variable" . + oboInOwl:hasExactSynonym "immune deficiency, familial variable" ; + skos:exactMatch UMLS:C1840266 . OMIM:146840 a owl:Class ; IAO:0100001 OMIM:147060 ; @@ -38206,7 +39127,6 @@ OMIM:146880 a owl:Class ; PMID:9410900 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:212750 ; - oboInOwl:hasDbXref UMLS:C1415570 ; oboInOwl:hasExactSynonym "HLA-DQA1", "dc1", "hla-dqa", @@ -38215,7 +39135,9 @@ OMIM:146880 a owl:Class ; "major histocompatibility complex, class ii, dq alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3117 ; - skos:exactMatch HGNC_symbol:HLA-DQA1 ; + skos:exactMatch UMLS:C1415570, + HGNC:4942, + HGNC_symbol:HLA-DQA1 ; biolink:category biolink:Gene . OMIM:146900 a owl:Class ; @@ -38228,13 +39150,14 @@ OMIM:146900 a owl:Class ; PMID:6438434, PMID:6805411, PMID:9264010 ; - oboInOwl:hasDbXref UMLS:C1415933 ; oboInOwl:hasExactSynonym "IGHA1", "iga constant heavy chain 1", "immunoglobulin am1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3493 ; - skos:exactMatch HGNC_symbol:IGHA1 ; + skos:exactMatch UMLS:C1415933, + HGNC:5478, + HGNC_symbol:IGHA1 ; biolink:category biolink:Gene . OMIM:146910 a owl:Class ; @@ -38242,7 +39165,6 @@ OMIM:146910 a owl:Class ; IAO:0000142 PMID:3243276, PMID:6801764, PMID:7312051 ; - oboInOwl:hasDbXref UMLS:C1415936 ; oboInOwl:hasExactSynonym "IGHD@", "igd1", "ighd gene cluster", @@ -38250,7 +39172,9 @@ OMIM:146910 a owl:Class ; "immunoglobulin heavy chain diversity gene cluster" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3492 ; - skos:exactMatch HGNC_symbol:IGH ; + skos:exactMatch UMLS:C1415936, + HGNC:5477, + HGNC_symbol:IGH ; biolink:category biolink:Gene . OMIM:146928 a owl:Class ; @@ -38275,14 +39199,15 @@ OMIM:146928 a owl:Class ; PMID:8486366 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:619407 ; - oboInOwl:hasDbXref UMLS:C1334126 ; oboInOwl:hasExactSynonym "CXCR2", "chemokine, cxc motif, receptor 2", "interleukin 8 receptor, iia 2", "interleukin 8 receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3579 ; - skos:exactMatch HGNC_symbol:CXCR2 ; + skos:exactMatch UMLS:C1334126, + HGNC:6027, + HGNC_symbol:CXCR2 ; biolink:category biolink:Gene . OMIM:146929 a owl:Class ; @@ -38297,14 +39222,15 @@ OMIM:146929 a owl:Class ; PMID:8500355 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:609423 ; - oboInOwl:hasDbXref UMLS:C1334125 ; oboInOwl:hasExactSynonym "CXCR1", "chemokine, cxc motif, receptor 1", "interleukin 8 receptor, iia 1", "interleukin 8 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3577 ; - skos:exactMatch HGNC_symbol:CXCR1 ; + skos:exactMatch UMLS:C1334125, + HGNC:6026, + HGNC_symbol:CXCR1 ; biolink:category biolink:Gene . OMIM:146930 a owl:Class ; @@ -38329,7 +39255,6 @@ OMIM:146930 a owl:Class ; PMID:8574748, PMID:9166042, PMID:9465307 ; - oboInOwl:hasDbXref UMLS:C1366571 ; oboInOwl:hasExactSynonym "CXCL8", "chemokine, cxc motif, ligand 8", "granulocyte chemotactic protein 1", @@ -38339,7 +39264,9 @@ OMIM:146930 a owl:Class ; "small inducible cytokine subfamily b, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3576 ; - skos:exactMatch HGNC_symbol:CXCL8 ; + skos:exactMatch UMLS:C1366571, + HGNC:6025, + HGNC_symbol:CXCL8 ; biolink:category biolink:Gene . OMIM:146931 a owl:Class ; @@ -38369,13 +39296,14 @@ OMIM:146931 a owl:Class ; PMID:8516290, PMID:9090385, PMID:9371819 ; - oboInOwl:hasDbXref UMLS:C1334127 ; oboInOwl:hasExactSynonym "IL9", "interleukin 9", "t-cell/mast cell growth factor p40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3578 ; - skos:exactMatch HGNC_symbol:IL9 ; + skos:exactMatch UMLS:C1334127, + HGNC:6029, + HGNC_symbol:IL9 ; biolink:category biolink:Gene . OMIM:146932 a owl:Class ; @@ -38395,14 +39323,15 @@ OMIM:146933 a owl:Class ; PMID:8407942 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:613148 ; - oboInOwl:hasDbXref UMLS:C1416381 ; oboInOwl:hasExactSynonym "IL10RA", "il10r1", "interleukin 10 receptor", "interleukin 10 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3587 ; - skos:exactMatch HGNC_symbol:IL10RA ; + skos:exactMatch UMLS:C1416381, + HGNC:5964, + HGNC_symbol:IL10RA ; biolink:category biolink:Gene . OMIM:146940 a owl:Class ; @@ -38414,25 +39343,25 @@ OMIM:146950 a owl:Class ; IAO:0000142 PMID:4040901, PMID:4109878, PMID:6787587 ; - oboInOwl:hasDbXref UMLS:C1840260 ; oboInOwl:hasExactSynonym "IHG", - "immune response to synthetic polypeptide--irhgal" . + "immune response to synthetic polypeptide--irhgal" ; + skos:exactMatch UMLS:C1840260 . OMIM:146960 a owl:Class ; rdfs:label "immune response to synthetic polypeptide--irtgal" ; - oboInOwl:hasDbXref UMLS:C1840259 ; oboInOwl:hasExactSynonym "ITG", - "immune response to synthetic polypeptide--irtgal" . + "immune response to synthetic polypeptide--irtgal" ; + skos:exactMatch UMLS:C1840259 . OMIM:146970 a owl:Class ; rdfs:label "IGKJ@" ; IAO:0000142 PMID:6812058 ; - oboInOwl:hasDbXref UMLS:C1416165 ; oboInOwl:hasExactSynonym "IGKJ@", "igkj gene cluster", "immunoglobulin kappa light chain joining gene cluster" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7842 ; + skos:exactMatch UMLS:C1416165 ; biolink:category biolink:Gene . OMIM:146980 a owl:Class ; @@ -38448,12 +39377,12 @@ OMIM:146980 a owl:Class ; PMID:6402305, PMID:6585808, PMID:6812058 ; - oboInOwl:hasDbXref UMLS:C1416174 ; oboInOwl:hasExactSynonym "IGKV@", "igkv gene cluster", "immunoglobulin kappa light chain variable gene cluster" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3519 ; + skos:exactMatch UMLS:C1416174 ; biolink:category biolink:Gene . OMIM:147000 a owl:Class ; @@ -38464,13 +39393,14 @@ OMIM:147000 a owl:Class ; PMID:6806672, PMID:6817141, PMID:6817143 ; - oboInOwl:hasDbXref UMLS:C1415934 ; oboInOwl:hasExactSynonym "IGHA2", "iga constant heavy chain 2", "immunoglobulin am2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3494 ; - skos:exactMatch HGNC_symbol:IGHA2 ; + skos:exactMatch UMLS:C1415934, + HGNC:5479, + HGNC_symbol:IGHA2 ; biolink:category biolink:Gene . OMIM:147010 a owl:Class ; @@ -38479,13 +39409,14 @@ OMIM:147010 a owl:Class ; PMID:6250219, PMID:6787590, PMID:6801764 ; - oboInOwl:hasDbXref UMLS:C1415983 ; oboInOwl:hasExactSynonym "IGHJ@", "ighj gene cluster", "immunoglobulin heavy chain joining gene cluster" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3492 ; - skos:exactMatch HGNC_symbol:IGH ; + skos:exactMatch UMLS:C1415983, + HGNC:5477, + HGNC_symbol:IGH ; biolink:category biolink:Gene . OMIM:147020 a owl:Class ; @@ -38506,14 +39437,15 @@ OMIM:147020 a owl:Class ; PMID:8890099 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:601495 ; - oboInOwl:hasDbXref UMLS:C1415993 ; oboInOwl:hasExactSynonym "IGHM", "igm heavy chain constant region", "immunoglobulin heavy chain constant region mu", "immunoglobulin heavy chain mu constant region" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3507 ; - skos:exactMatch HGNC_symbol:IGHM ; + skos:exactMatch UMLS:C1415993, + HGNC:5541, + HGNC_symbol:IGHM ; biolink:category biolink:Gene . OMIM:147040 a owl:Class ; @@ -38521,14 +39453,15 @@ OMIM:147040 a owl:Class ; IAO:0000142 PMID:1377167, PMID:21085181, PMID:3175763 ; - oboInOwl:hasDbXref UMLS:C1415894 ; oboInOwl:hasExactSynonym "IFIT2", "g10p2", "interferon-induced protein 54", "interferon-induced protein with tetratricopeptide repeats 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3433 ; - skos:exactMatch HGNC_symbol:IFIT2 ; + skos:exactMatch UMLS:C1415894, + HGNC:5409, + HGNC_symbol:IFIT2 ; biolink:category biolink:Gene . OMIM:147045 a owl:Class ; @@ -38542,14 +39475,15 @@ OMIM:147045 a owl:Class ; PMID:7636188, PMID:8408621, PMID:8836118 ; - oboInOwl:hasDbXref UMLS:C1414546 ; oboInOwl:hasExactSynonym "FCAR", "cd89", "fc fragment of iga, receptor for", "immunoglobulin a fc receptor 1g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2204 ; - skos:exactMatch HGNC_symbol:FCAR ; + skos:exactMatch UMLS:C1414546, + HGNC:3608, + HGNC_symbol:FCAR ; biolink:category biolink:Gene . OMIM:147070 a owl:Class ; @@ -38577,13 +39511,14 @@ OMIM:147070 a owl:Class ; PMID:7951227, PMID:8490662, PMID:9841928 ; - oboInOwl:hasDbXref UMLS:C1415996 ; oboInOwl:hasExactSynonym "IGHV@", "ighv gene cluster", "immunoglobulin heavy chain variable gene cluster" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3492 ; - skos:exactMatch HGNC_symbol:IGH ; + skos:exactMatch UMLS:C1415996, + HGNC:5477, + HGNC_symbol:IGH ; biolink:category biolink:Gene . OMIM:147100 a owl:Class ; @@ -38650,7 +39585,6 @@ OMIM:147100 a owl:Class ; PMID:810069, PMID:900125, PMID:9495344 ; - oboInOwl:hasDbXref UMLS:C1415978 ; oboInOwl:hasExactSynonym "IGHG1", "igg heavy chain locus", "ighg1/ccnd1 fusion gene", @@ -38658,7 +39592,9 @@ OMIM:147100 a owl:Class ; "immunoglobulin gm1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3500 ; - skos:exactMatch HGNC_symbol:IGHG1 ; + skos:exactMatch UMLS:C1415978, + HGNC:5525, + HGNC_symbol:IGHG1 ; biolink:category biolink:Gene . OMIM:147110 a owl:Class ; @@ -38670,7 +39606,6 @@ OMIM:147110 a owl:Class ; PMID:7231479, PMID:9449702 ; RO:0002525 CHR:9606chr14q32.33 ; - oboInOwl:hasDbXref UMLS:C1415979 ; oboInOwl:hasExactSynonym "IGHG2", "igg2 heavy chain constant region", "immunoglobulin gm2", @@ -38678,7 +39613,9 @@ OMIM:147110 a owl:Class ; "immunoglobulin heavy chain gamma-2 constant region" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3501 ; - skos:exactMatch HGNC_symbol:IGHG2 ; + skos:exactMatch UMLS:C1415979, + HGNC:5526, + HGNC_symbol:IGHG2 ; biolink:category biolink:Gene . OMIM:147120 a owl:Class ; @@ -38687,12 +39624,13 @@ OMIM:147120 a owl:Class ; PMID:3139711, PMID:521664, PMID:6808505 ; - oboInOwl:hasDbXref UMLS:C1415980 ; oboInOwl:hasExactSynonym "IGHG3", "immunoglobulin gm3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3502 ; - skos:exactMatch HGNC_symbol:IGHG3 ; + skos:exactMatch UMLS:C1415980, + HGNC:5527, + HGNC_symbol:IGHG3 ; biolink:category biolink:Gene . OMIM:147130 a owl:Class ; @@ -38700,12 +39638,13 @@ OMIM:147130 a owl:Class ; IAO:0000142 PMID:6316337, PMID:6801764, PMID:955639 ; - oboInOwl:hasDbXref UMLS:C1415981 ; oboInOwl:hasExactSynonym "IGHG4", "immunoglobulin gm4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3503 ; - skos:exactMatch HGNC_symbol:IGHG4 ; + skos:exactMatch UMLS:C1415981, + HGNC:5528, + HGNC_symbol:IGHG4 ; biolink:category biolink:Gene . OMIM:147138 a owl:Class ; @@ -38726,7 +39665,6 @@ OMIM:147138 a owl:Class ; PMID:9521597 ; RO:0002525 CHR:9606chr11q12.1 ; RO:0003303 OMIM:147050 ; - oboInOwl:hasDbXref UMLS:C1417327 ; oboInOwl:hasExactSynonym "MS4A2", "fc fragment of ige, high affinity i, receptor for, beta subunit", "fc ige receptor, beta chain", @@ -38735,7 +39673,9 @@ OMIM:147138 a owl:Class ; "membrane-spanning 4 domains, subfamily a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2206 ; - skos:exactMatch HGNC_symbol:MS4A2 ; + skos:exactMatch UMLS:C1417327, + HGNC:7316, + HGNC_symbol:MS4A2 ; biolink:category biolink:Gene . OMIM:147139 a owl:Class ; @@ -38747,7 +39687,6 @@ OMIM:147139 a owl:Class ; PMID:2146219, PMID:8313472, PMID:9062348 ; - oboInOwl:hasDbXref UMLS:C1414548 ; oboInOwl:hasExactSynonym "FCER1G", "fc fragment of ige, high affinity i, receptor for, gamma subunit", "fc ige receptor, gamma chain", @@ -38755,7 +39694,9 @@ OMIM:147139 a owl:Class ; "immunoglobulin e receptor, high affinity, of mast cells, gamma polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2207 ; - skos:exactMatch HGNC_symbol:FCER1G ; + skos:exactMatch UMLS:C1414548, + HGNC:3611, + HGNC_symbol:FCER1G ; biolink:category biolink:Gene . OMIM:147140 a owl:Class ; @@ -38772,14 +39713,15 @@ OMIM:147140 a owl:Class ; PMID:2969594, PMID:9062348, PMID:9875849 ; - oboInOwl:hasDbXref UMLS:C1414547 ; oboInOwl:hasExactSynonym "FCER1A", "fc fragment of ige, high affinity i, receptor for, alpha subunit", "fc ige receptor, alpha chain", "immunoglobulin e receptor, high affinity, of mast cells, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2205 ; - skos:exactMatch HGNC_symbol:FCER1A ; + skos:exactMatch UMLS:C1414547, + HGNC:3609, + HGNC_symbol:FCER1A ; biolink:category biolink:Gene . OMIM:147141 a owl:Class ; @@ -38809,11 +39751,7 @@ OMIM:147141 a owl:Class ; PMID:8608207, PMID:9864177 ; RO:0002525 CHR:9606chr19p13.3 ; - RO:0003303 OMIM:616941 ; - oboInOwl:hasDbXref UMLS:C1336596, - UMLS:C1840249, - UMLS:C1840636, - UMLS:C1867800 ; + RO:0003303 OMIM:619824 ; oboInOwl:hasExactSynonym "TCF3", "e2a/hlf fusion gene", "e2a/pbx1 fusion gene", @@ -38825,7 +39763,12 @@ OMIM:147141 a owl:Class ; "vitamin d receptor-interacting repressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6929 ; - skos:exactMatch HGNC_symbol:TCF3 ; + skos:exactMatch UMLS:C1336596, + UMLS:C1840249, + UMLS:C1840636, + UMLS:C1867800, + HGNC:11633, + HGNC_symbol:TCF3 ; biolink:category biolink:Gene . OMIM:147150 a owl:Class ; @@ -38836,7 +39779,6 @@ OMIM:147150 a owl:Class ; PMID:21935451, PMID:3162334, PMID:9389754 ; - oboInOwl:hasDbXref UMLS:C1417510 ; oboInOwl:hasExactSynonym "MX1", "interferon-inducible protein p78", "mx dynamin-like gtpase 1", @@ -38844,7 +39786,9 @@ OMIM:147150 a owl:Class ; "myxovirus resistance 1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4599 ; - skos:exactMatch HGNC_symbol:MX1 ; + skos:exactMatch UMLS:C1417510, + HGNC:7532, + HGNC_symbol:MX1 ; biolink:category biolink:Gene . OMIM:147160 a owl:Class ; @@ -38859,12 +39803,13 @@ OMIM:147170 a owl:Class ; PMID:3922054, PMID:6420708, PMID:6779283 ; - oboInOwl:hasDbXref UMLS:C1415935 ; oboInOwl:hasExactSynonym "IGHD", "immunoglobulin: heavy delta chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3495 ; - skos:exactMatch HGNC_symbol:IGHD ; + skos:exactMatch UMLS:C1415935, + HGNC:5480, + HGNC_symbol:IGHD ; biolink:category biolink:Gene . OMIM:147183 a owl:Class ; @@ -38890,8 +39835,6 @@ OMIM:147183 a owl:Class ; PMID:9290259 ; RO:0002525 CHR:9606chr4p15.2 ; RO:0003303 OMIM:614814 ; - oboInOwl:hasDbXref UMLS:C1416171, - UMLS:C3553748 ; oboInOwl:hasExactSynonym "RBPJ", "c promoter-binding factor 1", "immunoglobulin kappa j region recombination signal-binding protein 1", @@ -38900,7 +39843,10 @@ OMIM:147183 a owl:Class ; "recombination signal-binding protein suppressor of hairless, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3516 ; - skos:exactMatch HGNC_symbol:RBPJ ; + skos:exactMatch UMLS:C1416171, + UMLS:C3553748, + HGNC:5724, + HGNC_symbol:RBPJ ; biolink:category biolink:Gene . OMIM:147185 a owl:Class ; @@ -38909,14 +39855,15 @@ OMIM:147185 a owl:Class ; PMID:3943862, PMID:6784929, PMID:7959772 ; - oboInOwl:hasDbXref UMLS:C1416211 ; oboInOwl:hasExactSynonym "IGKV1OR2108", "immunoglobulin kappa orphon 1", "immunoglobulin kappa variable 1/or2-108", "immunoglobulin transposed element 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28862 ; - skos:exactMatch HGNC_symbol:IGKV1OR2-108 ; + skos:exactMatch UMLS:C1416211, + HGNC:5767, + HGNC_symbol:IGKV1OR2-108 ; biolink:category biolink:Gene . OMIM:147200 a owl:Class ; @@ -38959,14 +39906,15 @@ OMIM:147200 a owl:Class ; PMID:9171824 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:614102 ; - oboInOwl:hasDbXref UMLS:C1416163 ; oboInOwl:hasExactSynonym "IGKC", "immunoglobulin inv", "immunoglobulin kappa light chain constant region", "immunoglobulin km" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3514 ; - skos:exactMatch HGNC_symbol:IGKC ; + skos:exactMatch UMLS:C1416163, + HGNC:5716, + HGNC_symbol:IGKC ; biolink:category biolink:Gene . OMIM:147210 a owl:Class ; @@ -38976,12 +39924,12 @@ OMIM:147210 a owl:Class ; OMIM:147230 a owl:Class ; rdfs:label "IGLJ@" ; IAO:0000142 PMID:7655473 ; - oboInOwl:hasDbXref UMLS:C1416285 ; oboInOwl:hasExactSynonym "IGLJ@", "iglj gene cluster", "immunoglobulin lambda light chain joining gene cluster" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8217 ; + skos:exactMatch UMLS:C1416285 ; biolink:category biolink:Gene . OMIM:147240 a owl:Class ; @@ -38993,12 +39941,12 @@ OMIM:147240 a owl:Class ; PMID:7601468, PMID:7655473, PMID:9367672 ; - oboInOwl:hasDbXref UMLS:C1416298 ; oboInOwl:hasExactSynonym "IGLV@", "iglv gene cluster", "immunoglobulin lambda light chain variable gene cluster" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3546 ; + skos:exactMatch UMLS:C1416298 ; biolink:category biolink:Gene . OMIM:147245 a owl:Class ; @@ -39014,43 +39962,45 @@ OMIM:147245 a owl:Class ; PMID:8486355 ; RO:0002525 CHR:9606chr17q23.3 ; RO:0003303 OMIM:612692 ; - oboInOwl:hasDbXref UMLS:C1413239 ; oboInOwl:hasExactSynonym "CD79B", "cd79b antigen", "immunoglobulin-associated b29 protein", "immunoglobulin-associated beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:974 ; - skos:exactMatch HGNC_symbol:CD79B ; + skos:exactMatch UMLS:C1413239, + HGNC:1699, + HGNC_symbol:CD79B ; biolink:category biolink:Gene . OMIM:147251 a owl:Class ; rdfs:label "incisors, fused mandibular" ; - oboInOwl:hasDbXref UMLS:C3494175 ; oboInOwl:hasExactSynonym "'double tooth'", - "incisors, fused mandibular" . + "incisors, fused mandibular" ; + skos:exactMatch UMLS:C3494175 . OMIM:147260 a owl:Class ; rdfs:label "immunoglobulin switch sequences" ; IAO:0000142 PMID:3013753, PMID:6787603 ; - oboInOwl:hasDbXref UMLS:C1840233, - UMLS:C1840234 ; oboInOwl:hasExactSynonym "immunoglobulin switch sequences", "immunoglobulin-independent switch sequences", - "s sequences" . + "s sequences" ; + skos:exactMatch UMLS:C1840233, + UMLS:C1840234 . OMIM:147263 a owl:Class ; rdfs:label "INPP1" ; IAO:0000142 PMID:11932254, PMID:8390685, PMID:8586440 ; - oboInOwl:hasDbXref UMLS:C1416440 ; oboInOwl:hasExactSynonym "INPP1", "inositol polyphosphate-1-phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3628 ; - skos:exactMatch HGNC_symbol:INPP1 ; + skos:exactMatch UMLS:C1416440, + HGNC:6071, + HGNC_symbol:INPP1 ; biolink:category biolink:Gene . OMIM:147264 a owl:Class ; @@ -39058,12 +40008,13 @@ OMIM:147264 a owl:Class ; IAO:0000142 PMID:1718960, PMID:8125013, PMID:8530037 ; - oboInOwl:hasDbXref UMLS:C1416445 ; oboInOwl:hasExactSynonym "INPP5B", "inositol polyphosphate-5-phosphatase, 75-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3633 ; - skos:exactMatch HGNC_symbol:INPP5B ; + skos:exactMatch UMLS:C1416445, + HGNC:6077, + HGNC_symbol:INPP5B ; biolink:category biolink:Gene . OMIM:147265 a owl:Class ; @@ -39103,17 +40054,18 @@ OMIM:147265 a owl:Class ; PMID:8987786 ; RO:0002525 CHR:9606chr3p26.1 ; RO:0003303 OMIM:117360 ; - oboInOwl:hasDbXref UMLS:C0431401, - UMLS:C1334148, - UMLS:C1847725, - UMLS:C1861732 ; oboInOwl:hasExactSynonym "ITPR1", "inositol 1,4,5-triphosphate receptor, iia 1", "ip3r", "ip3r1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3708 ; - skos:exactMatch HGNC_symbol:ITPR1 ; + skos:exactMatch UMLS:C0431401, + UMLS:C1334148, + UMLS:C1847725, + UMLS:C1861732, + HGNC:6180, + HGNC_symbol:ITPR1 ; biolink:category biolink:Gene . OMIM:147267 a owl:Class ; @@ -39126,13 +40078,14 @@ OMIM:147267 a owl:Class ; PMID:8288584 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:222100 ; - oboInOwl:hasDbXref UMLS:C1416519 ; oboInOwl:hasExactSynonym "ITPR3", "inositol 1,4,5-trisphosphate receptor, iia 3", "ip3r3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3710 ; - skos:exactMatch HGNC_symbol:ITPR3 ; + skos:exactMatch UMLS:C1416519, + HGNC:6182, + HGNC_symbol:ITPR3 ; biolink:category biolink:Gene . OMIM:147270 a owl:Class ; @@ -39150,14 +40103,15 @@ OMIM:147270 a owl:Class ; PMID:7522574, PMID:7535743, PMID:9756925 ; - oboInOwl:hasDbXref UMLS:C1416506 ; oboInOwl:hasExactSynonym "ITIH1", "iatih", "inter-alpha-trypsin inhibitor, heavy chain 1", "itih" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3697 ; - skos:exactMatch HGNC_symbol:ITIH1 ; + skos:exactMatch UMLS:C1416506, + HGNC:6166, + HGNC_symbol:ITIH1 ; biolink:category biolink:Gene . OMIM:147280 a owl:Class ; @@ -39201,14 +40155,15 @@ OMIM:147280 a owl:Class ; PMID:9892739 ; RO:0002525 CHR:9606chr6q25.3 ; RO:0003303 OMIM:114550 ; - oboInOwl:hasDbXref UMLS:C1334090 ; oboInOwl:hasExactSynonym "IGF2R", "cimpr", "insulin-like growth factor 2 receptor", "mannose 6-phosphate receptor, cation-independent" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3482 ; - skos:exactMatch HGNC_symbol:IGF2R ; + skos:exactMatch UMLS:C1334090, + HGNC:5467, + HGNC_symbol:IGF2R ; biolink:category biolink:Gene . OMIM:147290 a owl:Class ; @@ -39227,8 +40182,6 @@ OMIM:147290 a owl:Class ; PMID:7885473, PMID:8955111, PMID:9716414 ; - oboInOwl:hasDbXref UMLS:C0100748, - UMLS:C1334131 ; oboInOwl:hasExactSynonym "INHBA", "activin a", "activin a-b", @@ -39241,13 +40194,16 @@ OMIM:147290 a owl:Class ; "inhibin, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3624 ; - skos:exactMatch HGNC_symbol:INHBA ; + skos:exactMatch UMLS:C0100748, + UMLS:C1334131, + HGNC:6066, + HGNC_symbol:INHBA ; biolink:category biolink:Gene . OMIM:147300 a owl:Class ; rdfs:label "incisors, long upper central" ; - oboInOwl:hasDbXref UMLS:C1840227 ; - oboInOwl:hasExactSynonym "incisors, long upper central" . + oboInOwl:hasExactSynonym "incisors, long upper central" ; + skos:exactMatch UMLS:C1840227 . OMIM:147310 a owl:Class ; rdfs:label "CXCL10" ; @@ -39268,7 +40224,6 @@ OMIM:147310 a owl:Class ; PMID:7540647, PMID:8574748, PMID:9129152 ; - oboInOwl:hasDbXref UMLS:C1367714 ; oboInOwl:hasExactSynonym "CXCL10", "chemokine, cxc motif, ligand 10", "interferon-gamma-induced factor", @@ -39277,25 +40232,27 @@ OMIM:147310 a owl:Class ; "small inducible cytokine subfamily b, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3627 ; - skos:exactMatch HGNC_symbol:CXCL10 ; + skos:exactMatch UMLS:C1367714, + HGNC:10637, + HGNC_symbol:CXCL10 ; biolink:category biolink:Gene . OMIM:147320 a owl:Class ; rdfs:label "insulin receptors, familial increase 1n" ; IAO:0000142 PMID:3018028 ; - oboInOwl:hasDbXref UMLS:C1840226 ; - oboInOwl:hasExactSynonym "insulin receptors, familial increase 1n" . + oboInOwl:hasExactSynonym "insulin receptors, familial increase 1n" ; + skos:exactMatch UMLS:C1840226 . OMIM:147330 a owl:Class ; rdfs:label "incisors, lower central, absence of" ; IAO:0000142 PMID:19983366 ; - oboInOwl:hasDbXref UMLS:C1840225 ; - oboInOwl:hasExactSynonym "incisors, lower central, absence of" . + oboInOwl:hasExactSynonym "incisors, lower central, absence of" ; + skos:exactMatch UMLS:C1840225 . OMIM:147350 a owl:Class ; rdfs:label "incisors, rotation of upper central" ; - oboInOwl:hasDbXref UMLS:C1840224 ; - oboInOwl:hasExactSynonym "incisors, rotation of upper central" . + oboInOwl:hasExactSynonym "incisors, rotation of upper central" ; + skos:exactMatch UMLS:C1840224 . OMIM:147360 a owl:Class ; rdfs:label "IVL" ; @@ -39309,12 +40266,13 @@ OMIM:147360 a owl:Class ; PMID:8276421, PMID:8317493, PMID:8550612 ; - oboInOwl:hasDbXref UMLS:C1416524 ; oboInOwl:hasExactSynonym "IVL", "involucrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3713 ; - skos:exactMatch HGNC_symbol:IVL ; + skos:exactMatch UMLS:C1416524, + HGNC:6187, + HGNC_symbol:IVL ; biolink:category biolink:Gene . OMIM:147370 a owl:Class ; @@ -39368,13 +40326,14 @@ OMIM:147370 a owl:Class ; PMID:9745438 ; RO:0002525 CHR:9606chr15q26.3 ; RO:0003303 OMIM:270450 ; - oboInOwl:hasDbXref UMLS:C1334088, - UMLS:C1849157 ; oboInOwl:hasExactSynonym "IGF1R", "insulin-like growth factor 1 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3480 ; - skos:exactMatch HGNC_symbol:IGF1R ; + skos:exactMatch UMLS:C1334088, + UMLS:C1849157, + HGNC:5465, + HGNC_symbol:IGF1R ; biolink:category biolink:Gene . OMIM:147380 a owl:Class ; @@ -39395,12 +40354,13 @@ OMIM:147380 a owl:Class ; PMID:3754442, PMID:8090730, PMID:9506758 ; - oboInOwl:hasDbXref UMLS:C1334130 ; oboInOwl:hasExactSynonym "INHA", "inhibin, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3623 ; - skos:exactMatch HGNC_symbol:INHA ; + skos:exactMatch UMLS:C1334130, + HGNC:6065, + HGNC_symbol:INHA ; biolink:category biolink:Gene . OMIM:147390 a owl:Class ; @@ -39414,7 +40374,6 @@ OMIM:147390 a owl:Class ; PMID:7885473, PMID:7947320, PMID:8358176 ; - oboInOwl:hasDbXref UMLS:C1334132 ; oboInOwl:hasExactSynonym "INHBB", "activin B", "activin beta-b", @@ -39422,7 +40381,9 @@ OMIM:147390 a owl:Class ; "inhibin, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3625 ; - skos:exactMatch HGNC_symbol:INHBB ; + skos:exactMatch UMLS:C1334132, + HGNC:6067, + HGNC_symbol:INHBB ; biolink:category biolink:Gene . OMIM:147400 a owl:Class ; @@ -39432,9 +40393,9 @@ OMIM:147400 a owl:Class ; PMID:18065779, PMID:19804850, PMID:4843087 ; - oboInOwl:hasDbXref UMLS:C1409763 ; oboInOwl:hasExactSynonym "incisors, shovel-shaped", "sinodonty" ; + skos:exactMatch UMLS:C1409763 ; biolink:category biolink:Disease . OMIM:147410 a owl:Class ; @@ -39454,9 +40415,9 @@ OMIM:147421 a owl:Class ; PMID:16432144, PMID:18318434, PMID:8526471 ; - oboInOwl:hasDbXref UMLS:C0238190 ; oboInOwl:hasExactSynonym "ibm", "inclusion body myositis" ; + skos:exactMatch UMLS:C0238190 ; biolink:category biolink:Disease . OMIM:147435 a owl:Class ; @@ -39481,14 +40442,15 @@ OMIM:147435 a owl:Class ; PMID:8404046, PMID:8406467, PMID:9712583 ; - oboInOwl:hasDbXref UMLS:C1416433 ; oboInOwl:hasExactSynonym "IDO1", "ido", "indo", "indoleamine 2,3-dioxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3620 ; - skos:exactMatch HGNC_symbol:IDO1 ; + skos:exactMatch UMLS:C1416433, + HGNC:6059, + HGNC_symbol:IDO1 ; biolink:category biolink:Gene . OMIM:147440 a owl:Class ; @@ -39572,14 +40534,15 @@ OMIM:147440 a owl:Class ; PMID:9593409 ; RO:0002525 CHR:9606chr12q23.2 ; RO:0003303 OMIM:608747 ; - oboInOwl:hasDbXref UMLS:C1334089 ; oboInOwl:hasExactSynonym "IGF1", "igf 1", "insulin-like growth factor 1", "somatomedin c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3479 ; - skos:exactMatch HGNC_symbol:IGF1 ; + skos:exactMatch UMLS:C1334089, + HGNC:5464, + HGNC_symbol:IGF1 ; biolink:category biolink:Gene . OMIM:147450 a owl:Class ; @@ -39763,10 +40726,6 @@ OMIM:147450 a owl:Class ; PMID:9817920 ; RO:0002525 CHR:9606chr21q22.11 ; RO:0003303 OMIM:618598 ; - oboInOwl:hasDbXref UMLS:C1420306, - UMLS:C1862939, - UMLS:C3542025, - UMLS:C5231422 ; oboInOwl:hasExactSynonym "SOD1", "indophenol oxidase a", "sod, soluble", @@ -39776,7 +40735,12 @@ OMIM:147450 a owl:Class ; "superoxide dismutase, soluble" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6647 ; - skos:exactMatch HGNC_symbol:SOD1 ; + skos:exactMatch UMLS:C1420306, + UMLS:C1862939, + UMLS:C3542025, + UMLS:C5231422, + HGNC:11179, + HGNC_symbol:SOD1 ; biolink:category biolink:Gene . OMIM:147460 a owl:Class ; @@ -39804,10 +40768,6 @@ OMIM:147460 a owl:Class ; PMID:9927656 ; RO:0002525 CHR:9606chr6q25.3 ; RO:0003303 OMIM:612634 ; - oboInOwl:hasDbXref UMLS:C1420307, - UMLS:C2675128, - UMLS:C2986382, - UMLS:C4016223 ; oboInOwl:hasExactSynonym "SOD2", "indophenol oxidase B", "manganese superoxide dismutase", @@ -39815,7 +40775,12 @@ OMIM:147460 a owl:Class ; "superoxide dismutase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6648 ; - skos:exactMatch HGNC_symbol:SOD2 ; + skos:exactMatch UMLS:C1420307, + UMLS:C2675128, + UMLS:C2986382, + UMLS:C4016223, + HGNC:11180, + HGNC_symbol:SOD2 ; biolink:category biolink:Gene . OMIM:147470 a owl:Class ; @@ -39890,15 +40855,16 @@ OMIM:147470 a owl:Class ; PMID:9988263 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:616489 ; - oboInOwl:hasDbXref UMLS:C1334091, - UMLS:C4016224, - UMLS:C4225307 ; oboInOwl:hasExactSynonym "IGF2", "insulin-like growth factor 2", "somatomedin a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3481 ; - skos:exactMatch HGNC_symbol:IGF2 ; + skos:exactMatch UMLS:C1334091, + UMLS:C4016224, + UMLS:C4225307, + HGNC:5466, + HGNC_symbol:IGF2 ; biolink:category biolink:Gene . OMIM:147480 a owl:Class ; @@ -39918,10 +40884,10 @@ OMIM:147480 a owl:Class ; PMID:7054071, PMID:8370153, PMID:976812 ; - oboInOwl:hasDbXref UMLS:C3549845 ; oboInOwl:hasExactSynonym "ICP1", "cholestasis, intrahepatic, of pregnancy, 1", "cholestasis, pregnancy-related, 1" ; + skos:exactMatch UMLS:C3549845 ; biolink:category biolink:Disease . OMIM:147485 a owl:Class ; @@ -39930,12 +40896,13 @@ OMIM:147485 a owl:Class ; PMID:1906605, PMID:7678343, PMID:8432546 ; - oboInOwl:hasDbXref UMLS:C1416469 ; oboInOwl:hasExactSynonym "IPP", "intracisternal a particle-promoted polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3652 ; - skos:exactMatch HGNC_symbol:IPP ; + skos:exactMatch UMLS:C1416469, + HGNC:6108, + HGNC_symbol:IPP ; biolink:category biolink:Gene . OMIM:147490 a owl:Class ; @@ -39961,7 +40928,6 @@ OMIM:147510 a owl:Class ; PMID:8982458, PMID:9100625, PMID:9590300 ; - oboInOwl:hasDbXref UMLS:C1840176 ; oboInOwl:hasExactSynonym "IRDN", "ins vntr", "insulin minisatellite", @@ -39969,6 +40935,7 @@ OMIM:147510 a owl:Class ; "insulin-related DNA polymorphism", "insulin-related vntr" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1840176 ; biolink:category biolink:Gene . OMIM:147520 a owl:Class ; @@ -39988,15 +40955,16 @@ OMIM:147520 a owl:Class ; PMID:7371431 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:613850 ; - oboInOwl:hasDbXref UMLS:C0342800, - UMLS:C1416514, - UMLS:C4225256 ; oboInOwl:hasExactSynonym "ITPA", "inosine triphosphatase", "inosine triphosphate pyrophosphohydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3704 ; - skos:exactMatch HGNC_symbol:ITPA ; + skos:exactMatch UMLS:C0342800, + UMLS:C1416514, + UMLS:C4225256, + HGNC:6176, + HGNC_symbol:ITPA ; biolink:category biolink:Gene . OMIM:147521 a owl:Class ; @@ -40005,12 +40973,13 @@ OMIM:147521 a owl:Class ; PMID:15350214, PMID:1847047, PMID:2175886 ; - oboInOwl:hasDbXref UMLS:C1416516 ; oboInOwl:hasExactSynonym "ITPKA", "inositol 1,4,5-trisphosphate 3-kinase a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3706 ; - skos:exactMatch HGNC_symbol:ITPKA ; + skos:exactMatch UMLS:C1416516, + HGNC:6178, + HGNC_symbol:ITPKA ; biolink:category biolink:Gene . OMIM:147522 a owl:Class ; @@ -40018,25 +40987,26 @@ OMIM:147522 a owl:Class ; IAO:0000142 PMID:1330886, PMID:14517551, PMID:1654894 ; - oboInOwl:hasDbXref UMLS:C1416517 ; oboInOwl:hasExactSynonym "ITPKB", "inositol 1,4,5-trisphosphate 3-kinase B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3707 ; - skos:exactMatch HGNC_symbol:ITPKB ; + skos:exactMatch UMLS:C1416517, + HGNC:6179, + HGNC_symbol:ITPKB ; biolink:category biolink:Gene . OMIM:147530 a owl:Class ; rdfs:label "insensitivity to pain with hyperplastic myelinopathy" ; IAO:0000142 PMID:4136553 ; - oboInOwl:hasDbXref UMLS:C1840172 ; - oboInOwl:hasExactSynonym "insensitivity to pain with hyperplastic myelinopathy" . + oboInOwl:hasExactSynonym "insensitivity to pain with hyperplastic myelinopathy" ; + skos:exactMatch UMLS:C1840172 . OMIM:147540 a owl:Class ; rdfs:label "insect stings, hypersensitivity to" ; IAO:0000142 PMID:4105364 ; - oboInOwl:hasDbXref UMLS:C1840171 ; - oboInOwl:hasExactSynonym "insect stings, hypersensitivity to" . + oboInOwl:hasExactSynonym "insect stings, hypersensitivity to" ; + skos:exactMatch UMLS:C1840171 . OMIM:147545 a owl:Class ; rdfs:label "IRS1" ; @@ -40078,14 +41048,15 @@ OMIM:147545 a owl:Class ; PMID:9541510 ; RO:0002525 CHR:9606chr2q36.3 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1334140, - UMLS:C1840169 ; oboInOwl:hasExactSynonym "IRS1", "coronary artery disease, susceptibility to", "insulin receptor substrate 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3667 ; - skos:exactMatch HGNC_symbol:IRS1 ; + skos:exactMatch UMLS:C1334140, + UMLS:C1840169, + HGNC:6125, + HGNC_symbol:IRS1 ; biolink:category biolink:Gene . OMIM:147554 a owl:Class ; @@ -40102,13 +41073,14 @@ OMIM:147556 a owl:Class ; PMID:9185503 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:619817 ; - oboInOwl:hasDbXref UMLS:C1442491 ; oboInOwl:hasExactSynonym "ITGA6", "cd49f", "integrin, alpha-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3655 ; - skos:exactMatch HGNC_symbol:ITGA6 ; + skos:exactMatch UMLS:C1442491, + HGNC:6142, + HGNC_symbol:ITGA6 ; biolink:category biolink:Gene . OMIM:147557 a owl:Class ; @@ -40138,12 +41110,13 @@ OMIM:147557 a owl:Class ; PMID:9892956 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:226730 ; - oboInOwl:hasDbXref UMLS:C1334147 ; oboInOwl:hasExactSynonym "ITGB4", "integrin, beta-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3691 ; - skos:exactMatch HGNC_symbol:ITGB4 ; + skos:exactMatch UMLS:C1334147, + HGNC:6158, + HGNC_symbol:ITGB4 ; biolink:category biolink:Gene . OMIM:147558 a owl:Class ; @@ -40163,12 +41136,13 @@ OMIM:147558 a owl:Class ; PMID:8666675 ; RO:0002525 CHR:9606chr2q24.2 ; RO:0003303 OMIM:616221 ; - oboInOwl:hasDbXref UMLS:C1416502 ; oboInOwl:hasExactSynonym "ITGB6", "integrin, beta-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3694 ; - skos:exactMatch HGNC_symbol:ITGB6 ; + skos:exactMatch UMLS:C1416502, + HGNC:6161, + HGNC_symbol:ITGB6 ; biolink:category biolink:Gene . OMIM:147559 a owl:Class ; @@ -40180,31 +41154,33 @@ OMIM:147559 a owl:Class ; PMID:18451854, PMID:2040616, PMID:30700910 ; - oboInOwl:hasDbXref UMLS:C1416503 ; oboInOwl:hasExactSynonym "ITGB7", "integrin, beta-7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3695 ; - skos:exactMatch HGNC_symbol:ITGB7 ; + skos:exactMatch UMLS:C1416503, + HGNC:6162, + HGNC_symbol:ITGB7 ; biolink:category biolink:Gene . OMIM:147560 a owl:Class ; rdfs:label "interferon antiviral depressor" ; IAO:0000142 PMID:1059098 ; - oboInOwl:hasDbXref UMLS:C1840150 ; - oboInOwl:hasExactSynonym "interferon antiviral depressor" . + oboInOwl:hasExactSynonym "interferon antiviral depressor" ; + skos:exactMatch UMLS:C1840150 . OMIM:147561 a owl:Class ; rdfs:label "ITGB5" ; IAO:0000142 PMID:11786903, PMID:1532572, PMID:2211615 ; - oboInOwl:hasDbXref UMLS:C1416501 ; oboInOwl:hasExactSynonym "ITGB5", "integrin, beta-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3693 ; - skos:exactMatch HGNC_symbol:ITGB5 ; + skos:exactMatch UMLS:C1416501, + HGNC:6160, + HGNC_symbol:ITGB5 ; biolink:category biolink:Gene . OMIM:147562 a owl:Class ; @@ -40215,12 +41191,13 @@ OMIM:147562 a owl:Class ; PMID:1489383, PMID:3001518, PMID:3001519 ; - oboInOwl:hasDbXref UMLS:C1334080 ; oboInOwl:hasExactSynonym "IFNA2", "interferon, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3440 ; - skos:exactMatch HGNC_symbol:IFNA2 ; + skos:exactMatch UMLS:C1334080, + HGNC:5423, + HGNC_symbol:IFNA2 ; biolink:category biolink:Gene . OMIM:147563 a owl:Class ; @@ -40234,7 +41211,6 @@ OMIM:147563 a owl:Class ; PMID:8401509, PMID:8406493, PMID:8586437 ; - oboInOwl:hasDbXref UMLS:C1415840 ; oboInOwl:hasExactSynonym "IBSP", "bone sialoprotein", "bone sialoprotein 2", @@ -40242,62 +41218,69 @@ OMIM:147563 a owl:Class ; "sialoprotein, bone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3381 ; - skos:exactMatch HGNC_symbol:IBSP ; + skos:exactMatch UMLS:C1415840, + HGNC:5341, + HGNC_symbol:IBSP ; biolink:category biolink:Gene . OMIM:147564 a owl:Class ; rdfs:label "IFNA4" ; IAO:0000142 PMID:1385305 ; - oboInOwl:hasDbXref UMLS:C1415906 ; oboInOwl:hasExactSynonym "IFNA4", "interferon, alpha-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3441 ; - skos:exactMatch HGNC_symbol:IFNA4 ; + skos:exactMatch UMLS:C1415906, + HGNC:5425, + HGNC_symbol:IFNA4 ; biolink:category biolink:Gene . OMIM:147565 a owl:Class ; rdfs:label "IFNA5" ; IAO:0000142 PMID:1385305 ; - oboInOwl:hasDbXref UMLS:C1415907 ; oboInOwl:hasExactSynonym "IFNA5", "interferon, alpha-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3442 ; - skos:exactMatch HGNC_symbol:IFNA5 ; + skos:exactMatch UMLS:C1415907, + HGNC:5426, + HGNC_symbol:IFNA5 ; biolink:category biolink:Gene . OMIM:147566 a owl:Class ; rdfs:label "IFNA6" ; IAO:0000142 PMID:1385305 ; - oboInOwl:hasDbXref UMLS:C1415908 ; oboInOwl:hasExactSynonym "IFNA6", "interferon, alpha-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3443 ; - skos:exactMatch HGNC_symbol:IFNA6 ; + skos:exactMatch UMLS:C1415908, + HGNC:5427, + HGNC_symbol:IFNA6 ; biolink:category biolink:Gene . OMIM:147567 a owl:Class ; rdfs:label "IFNA7" ; IAO:0000142 PMID:1385305 ; - oboInOwl:hasDbXref UMLS:C1415909 ; oboInOwl:hasExactSynonym "IFNA7", "interferon, alpha-7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3444 ; - skos:exactMatch HGNC_symbol:IFNA7 ; + skos:exactMatch UMLS:C1415909, + HGNC:5428, + HGNC_symbol:IFNA7 ; biolink:category biolink:Gene . OMIM:147568 a owl:Class ; rdfs:label "IFNA8" ; IAO:0000142 PMID:1385305 ; - oboInOwl:hasDbXref UMLS:C1415910 ; oboInOwl:hasExactSynonym "IFNA8", "interferon, alpha-8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3445 ; - skos:exactMatch HGNC_symbol:IFNA8 ; + skos:exactMatch UMLS:C1415910, + HGNC:5429, + HGNC_symbol:IFNA8 ; biolink:category biolink:Gene . OMIM:147569 a owl:Class ; @@ -40315,8 +41298,6 @@ OMIM:147569 a owl:Class ; PMID:9616207 ; RO:0002525 CHR:9606chr21q22.11 ; RO:0003303 OMIM:614889 ; - oboInOwl:hasDbXref UMLS:C1334084, - UMLS:C4013947 ; oboInOwl:hasExactSynonym "IFNGR2", "ifgr2", "interferon-gamma receptor 2", @@ -40324,7 +41305,10 @@ OMIM:147569 a owl:Class ; "interferon-gamma transducer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3460 ; - skos:exactMatch HGNC_symbol:IFNGR2 ; + skos:exactMatch UMLS:C1334084, + UMLS:C4013947, + HGNC:5440, + HGNC_symbol:IFNGR2 ; biolink:category biolink:Gene . OMIM:147570 a owl:Class ; @@ -40397,20 +41381,21 @@ OMIM:147570 a owl:Class ; PMID:9888423 ; RO:0002525 CHR:9606chr12q15 ; RO:0003303 OMIM:607948 ; - oboInOwl:hasDbXref UMLS:C1334085, - UMLS:C1969665, - UMLS:C2684859, - UMLS:C2750389, - UMLS:C2750460, - UMLS:C4016227, - UMLS:C5436498 ; oboInOwl:hasExactSynonym "IFNG", "ifg", "ifn, immune", "interferon, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3458 ; - skos:exactMatch HGNC_symbol:IFNG ; + skos:exactMatch UMLS:C1334085, + UMLS:C1969665, + UMLS:C2684859, + UMLS:C2750389, + UMLS:C2750460, + UMLS:C4016227, + UMLS:C5436498, + HGNC:5438, + HGNC_symbol:IFNG ; biolink:category biolink:Gene . OMIM:147571 a owl:Class ; @@ -40426,14 +41411,15 @@ OMIM:147571 a owl:Class ; PMID:25307056 ; RO:0002525 CHR:9606chr1p36.33 ; RO:0003303 OMIM:616126 ; - oboInOwl:hasDbXref UMLS:C1825621 ; oboInOwl:hasExactSynonym "ISG15", "interferon-induced protein 15", "interferon-induced protein ifi-15k", "ubiquitin-like modifier isg15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9636 ; - skos:exactMatch HGNC_symbol:ISG15 ; + skos:exactMatch UMLS:C1825621, + HGNC:4053, + HGNC_symbol:ISG15 ; biolink:category biolink:Gene . OMIM:147572 a owl:Class ; @@ -40444,26 +41430,28 @@ OMIM:147572 a owl:Class ; PMID:17823654, PMID:3017706, PMID:3359997 ; - oboInOwl:hasDbXref UMLS:C1825561 ; oboInOwl:hasExactSynonym "IFI6", "g1p3", "interferon-alpha-inducible protein 6", "interferon-induced protein ifi-6-16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2537 ; - skos:exactMatch HGNC_symbol:IFI6 ; + skos:exactMatch UMLS:C1825561, + HGNC:4054, + HGNC_symbol:IFI6 ; biolink:category biolink:Gene . OMIM:147573 a owl:Class ; rdfs:label "IFNR" ; IAO:0000142 PMID:1906174 ; - oboInOwl:hasDbXref UMLS:C1415919 ; oboInOwl:hasExactSynonym "IFNR", "interferon production regulator", "interferon-gamma-responsive inducer of class 2 mhc antigens" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3466 ; - skos:exactMatch HGNC_symbol:IFNR ; + skos:exactMatch UMLS:C1415919, + HGNC:5447, + HGNC_symbol:IFNR ; biolink:category biolink:Gene . OMIM:147574 a owl:Class ; @@ -40483,7 +41471,6 @@ OMIM:147574 a owl:Class ; PMID:8882710 ; RO:0002525 CHR:9606chr14q12 ; RO:0003303 OMIM:618648 ; - oboInOwl:hasDbXref UMLS:C1416479 ; oboInOwl:hasExactSynonym "IRF9", "interferon regulatory factor 9", "interferon-stimulated gene factor 3", @@ -40492,7 +41479,9 @@ OMIM:147574 a owl:Class ; "p48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10379 ; - skos:exactMatch HGNC_symbol:IRF9 ; + skos:exactMatch UMLS:C1416479, + HGNC:6131, + HGNC_symbol:IRF9 ; biolink:category biolink:Gene . OMIM:147575 a owl:Class ; @@ -40514,12 +41503,13 @@ OMIM:147575 a owl:Class ; PMID:9679752 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:211980 ; - oboInOwl:hasDbXref UMLS:C1366516 ; oboInOwl:hasExactSynonym "IRF1", "interferon regulatory factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3659 ; - skos:exactMatch HGNC_symbol:IRF1 ; + skos:exactMatch UMLS:C1366516, + HGNC:6116, + HGNC_symbol:IRF1 ; biolink:category biolink:Gene . OMIM:147576 a owl:Class ; @@ -40531,59 +41521,64 @@ OMIM:147576 a owl:Class ; PMID:27899441, PMID:7507207, PMID:8438157 ; - oboInOwl:hasDbXref UMLS:C1334138 ; oboInOwl:hasExactSynonym "IRF2", "interferon regulatory factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3660 ; - skos:exactMatch HGNC_symbol:IRF2 ; + skos:exactMatch UMLS:C1334138, + HGNC:6117, + HGNC_symbol:IRF2 ; biolink:category biolink:Gene . OMIM:147577 a owl:Class ; rdfs:label "IFNA10" ; IAO:0000142 PMID:1385305 ; - oboInOwl:hasDbXref UMLS:C1415901 ; oboInOwl:hasExactSynonym "IFNA10", "interferon, alpha-10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3446 ; - skos:exactMatch HGNC_symbol:IFNA10 ; + skos:exactMatch UMLS:C1415901, + HGNC:5418, + HGNC_symbol:IFNA10 ; biolink:category biolink:Gene . OMIM:147578 a owl:Class ; rdfs:label "IFNA13" ; IAO:0000142 PMID:1385305, PMID:15233997 ; - oboInOwl:hasDbXref UMLS:C1334079 ; oboInOwl:hasExactSynonym "IFNA13", "interferon, alpha-13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3447 ; - skos:exactMatch HGNC_symbol:IFNA13 ; + skos:exactMatch UMLS:C1334079, + HGNC:5419, + HGNC_symbol:IFNA13 ; biolink:category biolink:Gene . OMIM:147579 a owl:Class ; rdfs:label "IFNA14" ; IAO:0000142 PMID:1385305, PMID:6165082 ; - oboInOwl:hasDbXref UMLS:C1415902 ; oboInOwl:hasExactSynonym "IFNA14", "interferon, alpha-14", "leukocyte interferon 2h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3448 ; - skos:exactMatch HGNC_symbol:IFNA14 ; + skos:exactMatch UMLS:C1415902, + HGNC:5420, + HGNC_symbol:IFNA14 ; biolink:category biolink:Gene . OMIM:147580 a owl:Class ; rdfs:label "IFNA16" ; IAO:0000142 PMID:1385305 ; - oboInOwl:hasDbXref UMLS:C1415903 ; oboInOwl:hasExactSynonym "IFNA16", "interferon, alpha-16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3449 ; - skos:exactMatch HGNC_symbol:IFNA16 ; + skos:exactMatch UMLS:C1415903, + HGNC:5421, + HGNC_symbol:IFNA16 ; biolink:category biolink:Gene . OMIM:147581 a owl:Class ; @@ -40610,13 +41605,14 @@ OMIM:147582 a owl:Class ; PMID:9924025 ; RO:0002525 CHR:9606chr15q25.1 ; RO:0003303 OMIM:618451 ; - oboInOwl:hasDbXref UMLS:C1442498 ; oboInOwl:hasExactSynonym "IREB2", "ire-binding protein 2", "iron-responsive element-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3658 ; - skos:exactMatch HGNC_symbol:IREB2 ; + skos:exactMatch UMLS:C1442498, + HGNC:6115, + HGNC_symbol:IREB2 ; biolink:category biolink:Gene . OMIM:147583 a owl:Class ; @@ -40626,25 +41622,27 @@ OMIM:147583 a owl:Class ; PMID:19212321, PMID:3767336, PMID:6165082 ; - oboInOwl:hasDbXref UMLS:C1415904 ; oboInOwl:hasExactSynonym "IFNA17", "interferon a", "interferon, alpha-17", "leukocyte interferon 2c1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3451 ; - skos:exactMatch HGNC_symbol:IFNA17 ; + skos:exactMatch UMLS:C1415904, + HGNC:5422, + HGNC_symbol:IFNA17 ; biolink:category biolink:Gene . OMIM:147584 a owl:Class ; rdfs:label "IFNA21" ; IAO:0000142 PMID:1385305 ; - oboInOwl:hasDbXref UMLS:C1415905 ; oboInOwl:hasExactSynonym "IFNA21", "interferon, alpha-21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3452 ; - skos:exactMatch HGNC_symbol:IFNA21 ; + skos:exactMatch UMLS:C1415905, + HGNC:5424, + HGNC_symbol:IFNA21 ; biolink:category biolink:Gene . OMIM:147585 a owl:Class ; @@ -40658,12 +41656,13 @@ OMIM:147586 a owl:Class ; PMID:24356113, PMID:2476388, PMID:2477366 ; - oboInOwl:hasDbXref UMLS:C1415886 ; oboInOwl:hasExactSynonym "IFI16", "interferon-gamma-inducible protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3428 ; - skos:exactMatch HGNC_symbol:IFI16 ; + skos:exactMatch UMLS:C1415886, + HGNC:5395, + HGNC_symbol:IFI16 ; biolink:category biolink:Gene . OMIM:147590 a owl:Class ; @@ -40673,8 +41672,8 @@ OMIM:147590 a owl:Class ; OMIM:147610 a owl:Class ; rdfs:label "iris pigment layer, cleavage of" ; IAO:0000142 PMID:301712 ; - oboInOwl:hasDbXref UMLS:C1840140 ; - oboInOwl:hasExactSynonym "iris pigment layer, cleavage of" . + oboInOwl:hasExactSynonym "iris pigment layer, cleavage of" ; + skos:exactMatch UMLS:C1840140 . OMIM:147620 a owl:Class ; rdfs:label "IL6" ; @@ -40753,14 +41752,6 @@ OMIM:147620 a owl:Class ; PMID:9769329 ; RO:0002525 CHR:9606chr7p15.3 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1334122, - UMLS:C1840138, - UMLS:C2675113, - UMLS:C3538945, - UMLS:C3837967, - UMLS:C3837968, - UMLS:C4016228, - UMLS:C4016229 ; oboInOwl:hasExactSynonym "IL6", "b-cell differentiation factor", "b-cell stimulatory factor 2", @@ -40770,7 +41761,16 @@ OMIM:147620 a owl:Class ; "interleukin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3569 ; - skos:exactMatch HGNC_symbol:IL6 ; + skos:exactMatch UMLS:C1334122, + UMLS:C1840138, + UMLS:C2675113, + UMLS:C3538945, + UMLS:C3837967, + UMLS:C3837968, + UMLS:C4016228, + UMLS:C4016229, + HGNC:6018, + HGNC_symbol:IL6 ; biolink:category biolink:Gene . OMIM:147625 a owl:Class ; @@ -40779,13 +41779,14 @@ OMIM:147625 a owl:Class ; PMID:8162706, PMID:8326004, PMID:8975715 ; - oboInOwl:hasDbXref UMLS:C1415841 ; oboInOwl:hasExactSynonym "ICA1", "islet cell autoantigen 1", "islet cell autoantigen, 69-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3382 ; - skos:exactMatch HGNC_symbol:ICA1 ; + skos:exactMatch UMLS:C1415841, + HGNC:5343, + HGNC_symbol:ICA1 ; biolink:category biolink:Gene . OMIM:147640 a owl:Class ; @@ -40827,7 +41828,6 @@ OMIM:147640 a owl:Class ; PMID:6594689, PMID:6818550, PMID:7352259 ; - oboInOwl:hasDbXref UMLS:C1415912 ; oboInOwl:hasExactSynonym "IFNB1", "beta-interferon", "ifn, fibroblast", @@ -40835,7 +41835,9 @@ OMIM:147640 a owl:Class ; "interferon, fibroblast" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3456 ; - skos:exactMatch HGNC_symbol:IFNB1 ; + skos:exactMatch UMLS:C1415912, + HGNC:5434, + HGNC_symbol:IFNB1 ; biolink:category biolink:Gene . OMIM:147650 a owl:Class ; @@ -40863,14 +41865,15 @@ OMIM:147650 a owl:Class ; PMID:8954790 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:613657 ; - oboInOwl:hasDbXref UMLS:C1415877, - UMLS:C3150909 ; oboInOwl:hasExactSynonym "IDH2", "isocitrate dehydrogenase 2", "isocitrate dehydrogenase, nadp(+)-specific, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3418 ; - skos:exactMatch HGNC_symbol:IDH2 ; + skos:exactMatch UMLS:C1415877, + UMLS:C3150909, + HGNC:5383, + HGNC_symbol:IDH2 ; biolink:category biolink:Gene . OMIM:147670 a owl:Class ; @@ -40988,7 +41991,11 @@ OMIM:147670 a owl:Class ; PMID:9844629 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:262190 ; - oboInOwl:hasDbXref UMLS:C0011860, + oboInOwl:hasExactSynonym "INSR", + "insulin receptor" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:3643 ; + skos:exactMatch UMLS:C0011860, UMLS:C0021655, UMLS:C0265344, UMLS:C0271695, @@ -40996,12 +42003,9 @@ OMIM:147670 a owl:Class ; UMLS:C0854110, UMLS:C1334133, UMLS:C1864952, - UMLS:C4015968 ; - oboInOwl:hasExactSynonym "INSR", - "insulin receptor" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:3643 ; - skos:exactMatch HGNC_symbol:INSR ; + UMLS:C4015968, + HGNC:6091, + HGNC_symbol:INSR ; biolink:category biolink:Gene . OMIM:147671 a owl:Class ; @@ -41012,13 +42016,14 @@ OMIM:147671 a owl:Class ; PMID:1530648, PMID:2249481, PMID:2768234 ; - oboInOwl:hasDbXref UMLS:C1416459 ; oboInOwl:hasExactSynonym "INSRR", "insulin receptor-related receptor", "irr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3645 ; - skos:exactMatch HGNC_symbol:INSRR ; + skos:exactMatch UMLS:C1416459, + HGNC:6093, + HGNC_symbol:INSRR ; biolink:category biolink:Gene . OMIM:147678 a owl:Class ; @@ -41060,7 +42065,6 @@ OMIM:147678 a owl:Class ; PMID:8898202, PMID:9015751, PMID:9624166 ; - oboInOwl:hasDbXref UMLS:C1366479 ; oboInOwl:hasExactSynonym "CASP1", "caspase 1, apoptosis-related cysteine protease", "il1b-convertase", @@ -41068,7 +42072,9 @@ OMIM:147678 a owl:Class ; "interleukin 1-beta convertase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:834 ; - skos:exactMatch HGNC_symbol:CASP1 ; + skos:exactMatch UMLS:C1366479, + HGNC:1499, + HGNC_symbol:CASP1 ; biolink:category biolink:Gene . OMIM:147679 a owl:Class ; @@ -41102,16 +42108,17 @@ OMIM:147679 a owl:Class ; PMID:9185517 ; RO:0002525 CHR:9606chr2q14.1 ; RO:0003303 OMIM:612628 ; - oboInOwl:hasDbXref UMLS:C1416402, - UMLS:C2675112, - UMLS:C2748507, - UMLS:C4016230 ; oboInOwl:hasExactSynonym "IL1RN", "il1ra", "interleukin 1 receptor antagonist" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3557 ; - skos:exactMatch HGNC_symbol:IL1RN ; + skos:exactMatch UMLS:C1416402, + UMLS:C2675112, + UMLS:C2748507, + UMLS:C4016230, + HGNC:6000, + HGNC_symbol:IL1RN ; biolink:category biolink:Gene . OMIM:147680 a owl:Class ; @@ -41152,13 +42159,14 @@ OMIM:147680 a owl:Class ; PMID:6608729, PMID:6609441, PMID:9516115 ; - oboInOwl:hasDbXref UMLS:C0879590 ; oboInOwl:hasExactSynonym "IL2", "interleukin 2", "t-cell growth factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3558 ; - skos:exactMatch HGNC_symbol:IL2 ; + skos:exactMatch UMLS:C0879590, + HGNC:6001, + HGNC_symbol:IL2 ; biolink:category biolink:Gene . OMIM:147681 a owl:Class ; @@ -41170,12 +42178,13 @@ OMIM:147681 a owl:Class ; PMID:29160304, PMID:7512836, PMID:9166826 ; - oboInOwl:hasDbXref UMLS:C1334100 ; oboInOwl:hasExactSynonym "IL11", "interleukin 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3589 ; - skos:exactMatch HGNC_symbol:IL11 ; + skos:exactMatch UMLS:C1334100, + HGNC:5966, + HGNC_symbol:IL11 ; biolink:category biolink:Gene . OMIM:147683 a owl:Class ; @@ -41216,14 +42225,15 @@ OMIM:147683 a owl:Class ; PMID:9856950 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:600807 ; - oboInOwl:hasDbXref UMLS:C1334103, - UMLS:C1869116, - UMLS:C4017540 ; oboInOwl:hasExactSynonym "IL13", "interleukin 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3596 ; - skos:exactMatch HGNC_symbol:IL13 ; + skos:exactMatch UMLS:C1334103, + UMLS:C1869116, + UMLS:C4017540, + HGNC:5973, + HGNC_symbol:IL13 ; biolink:category biolink:Gene . OMIM:147684 a owl:Class ; @@ -41235,14 +42245,15 @@ OMIM:147685 a owl:Class ; PMID:1909027, PMID:20810654, PMID:30700909 ; - oboInOwl:hasDbXref UMLS:C1416418 ; oboInOwl:hasExactSynonym "FOXK2", "forkhead box k2", "ilf", "interleukin enhancer-binding factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3607 ; - skos:exactMatch HGNC_symbol:FOXK2 ; + skos:exactMatch UMLS:C1416418, + HGNC:6036, + HGNC_symbol:FOXK2 ; biolink:category biolink:Gene . OMIM:147686 a owl:Class ; @@ -41256,7 +42267,6 @@ OMIM:147690 a owl:Class ; PMID:21642987, PMID:3585080, PMID:6186990 ; - oboInOwl:hasDbXref UMLS:C1415892 ; oboInOwl:hasExactSynonym "IFIT1", "c56", "interferon-induced protein 56", @@ -41266,7 +42276,9 @@ OMIM:147690 a owl:Class ; "isg56" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3434 ; - skos:exactMatch HGNC_symbol:IFIT1 ; + skos:exactMatch UMLS:C1415892, + HGNC:5407, + HGNC_symbol:IFIT1 ; biolink:category biolink:Gene . OMIM:147700 a owl:Class ; @@ -41310,7 +42322,6 @@ OMIM:147700 a owl:Class ; PMID:9866202 ; RO:0002525 CHR:9606chr2q34 ; RO:0003303 OMIM:137800 ; - oboInOwl:hasDbXref UMLS:C1415876 ; oboInOwl:hasExactSynonym "IDH1", "isocitrate dehydrogenase 1", "isocitrate dehydrogenase, nadp(+)-dependent, cytosolic", @@ -41318,14 +42329,16 @@ OMIM:147700 a owl:Class ; "peroxisomal isocitrate dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3417 ; - skos:exactMatch HGNC_symbol:IDH1 ; + skos:exactMatch UMLS:C1415876, + HGNC:5382, + HGNC_symbol:IDH1 ; biolink:category biolink:Gene . OMIM:147710 a owl:Class ; rdfs:label "intussusception" ; IAO:0000142 PMID:7139491 ; - oboInOwl:hasDbXref UMLS:C0021933 ; - oboInOwl:hasExactSynonym "intussusception" . + oboInOwl:hasExactSynonym "intussusception" ; + skos:exactMatch UMLS:C0021933 . OMIM:147720 a owl:Class ; rdfs:label "IL1B" ; @@ -41378,13 +42391,14 @@ OMIM:147720 a owl:Class ; PMID:8898202 ; RO:0002525 CHR:9606chr2q14.1 ; RO:0003303 OMIM:613659 ; - oboInOwl:hasDbXref UMLS:C1334112 ; oboInOwl:hasExactSynonym "IL1B", "il1-beta", "interleukin 1-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3553 ; - skos:exactMatch HGNC_symbol:IL1B ; + skos:exactMatch UMLS:C1334112, + HGNC:5992, + HGNC_symbol:IL1B ; biolink:category biolink:Gene . OMIM:147730 a owl:Class ; @@ -41425,10 +42439,6 @@ OMIM:147730 a owl:Class ; PMID:9096364 ; RO:0002525 CHR:9606chr10p15.1 ; RO:0003303 OMIM:601942 ; - oboInOwl:hasDbXref UMLS:C1334114, - UMLS:C1853392, - UMLS:C1866040, - UMLS:C5436940 ; oboInOwl:hasExactSynonym "IL2RA", "cd25", "il2 receptor", @@ -41438,7 +42448,12 @@ OMIM:147730 a owl:Class ; "tac antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3559 ; - skos:exactMatch HGNC_symbol:IL2RA ; + skos:exactMatch UMLS:C1334114, + UMLS:C1853392, + UMLS:C1866040, + UMLS:C5436940, + HGNC:6008, + HGNC_symbol:IL2RA ; biolink:category biolink:Gene . OMIM:147740 a owl:Class ; @@ -41466,13 +42481,14 @@ OMIM:147740 a owl:Class ; PMID:8516290, PMID:8617885, PMID:9736740 ; - oboInOwl:hasDbXref UMLS:C1334117 ; oboInOwl:hasExactSynonym "IL3", "interleukin 3", "multi-csf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3562 ; - skos:exactMatch HGNC_symbol:IL3 ; + skos:exactMatch UMLS:C1334117, + HGNC:6011, + HGNC_symbol:IL3 ; biolink:category biolink:Gene . OMIM:147750 a owl:Class ; @@ -41483,12 +42499,12 @@ OMIM:147750 a owl:Class ; PMID:3400733, PMID:7395922, PMID:9327262 ; - oboInOwl:hasDbXref UMLS:C1327918, - ORPHA:2307 ; oboInOwl:hasExactSynonym "IVIC", "ivic syndrome", "oculootoradial syndrome", "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" ; + skos:exactMatch UMLS:C1327918, + ORPHA:2307 ; biolink:category biolink:Disease . OMIM:147760 a owl:Class ; @@ -41531,13 +42547,14 @@ OMIM:147760 a owl:Class ; PMID:8188271, PMID:9049801, PMID:9545388 ; - oboInOwl:hasDbXref UMLS:C1334111 ; oboInOwl:hasExactSynonym "IL1A", "il1-alpha", "interleukin 1-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3552 ; - skos:exactMatch HGNC_symbol:IL1A ; + skos:exactMatch UMLS:C1334111, + HGNC:5991, + HGNC_symbol:IL1A ; biolink:category biolink:Gene . OMIM:147770 a owl:Class ; @@ -41547,12 +42564,12 @@ OMIM:147770 a owl:Class ; PMID:6881216, PMID:7747766, PMID:8267002 ; - oboInOwl:hasDbXref UMLS:C0796002, - ORPHA:2316 ; oboInOwl:hasExactSynonym "aadh syndrome", "alopecia-anosmia-deafness-hypogonadism syndrome", "johnson neuroectodermal syndrome", "johnson-mcmillin syndrome" ; + skos:exactMatch UMLS:C0796002, + ORPHA:2316 ; biolink:category biolink:Disease . OMIM:147780 a owl:Class ; @@ -41595,13 +42612,14 @@ OMIM:147780 a owl:Class ; PMID:8516290, PMID:8810328, PMID:9643293 ; - oboInOwl:hasDbXref UMLS:C1334119 ; oboInOwl:hasExactSynonym "IL4", "b-cell stimulatory factor 1", "interleukin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3565 ; - skos:exactMatch HGNC_symbol:IL4 ; + skos:exactMatch UMLS:C1334119, + HGNC:6014, + HGNC_symbol:IL4 ; biolink:category biolink:Gene . OMIM:147781 a owl:Class ; @@ -41637,13 +42655,14 @@ OMIM:147781 a owl:Class ; PMID:9620765 ; RO:0002525 CHR:9606chr16p12.1 ; RO:0003303 OMIM:147050 ; - oboInOwl:hasDbXref UMLS:C1334118 ; oboInOwl:hasExactSynonym "IL4R", "interleukin 4 receptor", "interleukin 4 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3566 ; - skos:exactMatch HGNC_symbol:IL4R ; + skos:exactMatch UMLS:C1334118, + HGNC:6015, + HGNC_symbol:IL4R ; biolink:category biolink:Gene . OMIM:147790 a owl:Class ; @@ -41651,14 +42670,15 @@ OMIM:147790 a owl:Class ; IAO:0000142 PMID:17015728, PMID:2415140, PMID:3016707 ; - oboInOwl:hasDbXref UMLS:C1416161 ; oboInOwl:hasExactSynonym "JCHAIN", "immunoglobulin j polypeptide, linker protein for immunoglobulin alpha and mu polypeptides", "j chain", "joining chain of multimeric iga and igm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3512 ; - skos:exactMatch HGNC_symbol:JCHAIN ; + skos:exactMatch UMLS:C1416161, + HGNC:5713, + HGNC_symbol:JCHAIN ; biolink:category biolink:Gene . OMIM:147791 a owl:Class ; @@ -41695,12 +42715,12 @@ OMIM:147791 a owl:Class ; PMID:8880580, PMID:9508241 ; RO:0002525 CHR:9606chr11q23.3-q25 ; - oboInOwl:hasDbXref UMLS:C0795841, - ORPHA:2308 ; oboInOwl:hasExactSynonym "JBS", "chromosome 11q deletion syndrome", "jacobsen syndrome", "partial 11q monosomy syndrome" ; + skos:exactMatch UMLS:C0795841, + ORPHA:2308 ; biolink:category biolink:Disease . OMIM:147795 a owl:Class ; @@ -41720,13 +42740,14 @@ OMIM:147795 a owl:Class ; PMID:9590172 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:618999 ; - oboInOwl:hasDbXref UMLS:C1334290, - UMLS:C5436572 ; oboInOwl:hasExactSynonym "JAK1", "janus kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3716 ; - skos:exactMatch HGNC_symbol:JAK1 ; + skos:exactMatch UMLS:C1334290, + UMLS:C5436572, + HGNC:6190, + HGNC_symbol:JAK1 ; biolink:category biolink:Gene . OMIM:147796 a owl:Class ; @@ -41771,7 +42792,12 @@ OMIM:147796 a owl:Class ; PMID:9618263 ; RO:0002525 CHR:9606chr9p24.1 ; RO:0003303 OMIM:600880 ; - oboInOwl:hasDbXref UMLS:C1334291, + oboInOwl:hasExactSynonym "JAK2", + "jak2/etv6 fusion gene", + "janus kinase 2" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:3717 ; + skos:exactMatch UMLS:C1334291, UMLS:C2675103, UMLS:C2675105, UMLS:C3276959, @@ -41779,13 +42805,9 @@ OMIM:147796 a owl:Class ; UMLS:C3281125, UMLS:C3838644, UMLS:C4016233, - UMLS:C4016234 ; - oboInOwl:hasExactSynonym "JAK2", - "jak2/etv6 fusion gene", - "janus kinase 2" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:3717 ; - skos:exactMatch HGNC_symbol:JAK2 ; + UMLS:C4016234, + HGNC:6192, + HGNC_symbol:JAK2 ; biolink:category biolink:Gene . OMIM:147800 a owl:Class ; @@ -41794,10 +42816,10 @@ OMIM:147800 a owl:Class ; PMID:19970612, PMID:4075562, PMID:5678002 ; - oboInOwl:hasDbXref UMLS:C0220686 ; oboInOwl:hasExactSynonym "aase-smith syndrome", "aase-smith syndrome 1", "joint contractures with other abnormalities" ; + skos:exactMatch UMLS:C0220686 ; biolink:category biolink:Disease . OMIM:147810 a owl:Class ; @@ -41808,14 +42830,15 @@ OMIM:147810 a owl:Class ; PMID:17572686, PMID:2530587, PMID:2946959 ; - oboInOwl:hasDbXref UMLS:C1416395 ; oboInOwl:hasExactSynonym "IL1R1", "interleukin 1 receptor", "interleukin 1 receptor, iia 1", "interleukin 1 receptor, alpha, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3554 ; - skos:exactMatch HGNC_symbol:IL1R1 ; + skos:exactMatch UMLS:C1416395, + HGNC:5993, + HGNC_symbol:IL1R1 ; biolink:category biolink:Gene . OMIM:147811 a owl:Class ; @@ -41824,13 +42847,14 @@ OMIM:147811 a owl:Class ; PMID:14976157, PMID:1833184, PMID:8332913 ; - oboInOwl:hasDbXref UMLS:C1416396 ; oboInOwl:hasExactSynonym "IL1R2", "interleukin 1 receptor, iia 2", "interleukin 1 receptor, beta, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7850 ; - skos:exactMatch HGNC_symbol:IL1R2 ; + skos:exactMatch UMLS:C1416396, + HGNC:5994, + HGNC_symbol:IL1R2 ; biolink:category biolink:Gene . OMIM:147820 a owl:Class ; @@ -41840,8 +42864,8 @@ OMIM:147820 a owl:Class ; PMID:18809841, PMID:3810760, PMID:7974595 ; - oboInOwl:hasDbXref UMLS:C1840073 ; - oboInOwl:hasExactSynonym "internal carotid artery, spontaneous dissection of" . + oboInOwl:hasExactSynonym "internal carotid artery, spontaneous dissection of" ; + skos:exactMatch UMLS:C1840073 . OMIM:147830 a owl:Class ; rdfs:label "TTIM1" ; @@ -41849,12 +42873,12 @@ OMIM:147830 a owl:Class ; PMID:2689385, PMID:3072071, PMID:3499980 ; - oboInOwl:hasDbXref UMLS:C1421221 ; oboInOwl:hasExactSynonym "TTIM1", "invasion and metastasis factors on chromosome 7", "invasion-inducing locus", "t-cell tumor invasion and metastasis 1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1421221 ; biolink:category biolink:Gene . OMIM:147840 a owl:Class ; @@ -41888,7 +42912,6 @@ OMIM:147840 a owl:Class ; PMID:9888423 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1334074 ; oboInOwl:hasExactSynonym "ICAM1", "antigen identified by monoclonal antibody bb2", "cd54", @@ -41896,7 +42919,9 @@ OMIM:147840 a owl:Class ; "surface antigen of activated B cells, bb2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3383 ; - skos:exactMatch HGNC_symbol:ICAM1 ; + skos:exactMatch UMLS:C1334074, + HGNC:5344, + HGNC_symbol:ICAM1 ; biolink:category biolink:Gene . OMIM:147850 a owl:Class ; @@ -41920,13 +42945,14 @@ OMIM:147850 a owl:Class ; PMID:8438156, PMID:8755934, PMID:9450903 ; - oboInOwl:hasDbXref UMLS:C1334121 ; oboInOwl:hasExactSynonym "IL5", "eosinophil differentiation factor", "interleukin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3567 ; - skos:exactMatch HGNC_symbol:IL5 ; + skos:exactMatch UMLS:C1334121, + HGNC:6016, + HGNC_symbol:IL5 ; biolink:category biolink:Gene . OMIM:147851 a owl:Class ; @@ -41938,22 +42964,23 @@ OMIM:147851 a owl:Class ; PMID:1833065, PMID:7836416, PMID:8104057 ; - oboInOwl:hasDbXref UMLS:C1334120 ; oboInOwl:hasExactSynonym "IL5RA", "il5r", "interleukin 5 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3568 ; - skos:exactMatch HGNC_symbol:IL5RA ; + skos:exactMatch UMLS:C1334120, + HGNC:6017, + HGNC_symbol:IL5RA ; biolink:category biolink:Gene . OMIM:147860 a owl:Class ; rdfs:label "interferon, beta-3" ; IAO:0000142 PMID:1440058, PMID:3864603 ; - oboInOwl:hasDbXref UMLS:C1415913 ; oboInOwl:hasExactSynonym "IFNB3", - "interferon, beta-3" . + "interferon, beta-3" ; + skos:exactMatch UMLS:C1415913 . OMIM:147870 a owl:Class ; rdfs:label "WNT2" ; @@ -41966,14 +42993,15 @@ OMIM:147870 a owl:Class ; PMID:2971536, PMID:2981636, PMID:8168088 ; - oboInOwl:hasDbXref UMLS:C0812231 ; oboInOwl:hasExactSynonym "WNT2", "int1-related protein", "oncogene int1-like 1", "wingless-type mmtv integration site family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7472 ; - skos:exactMatch HGNC_symbol:WNT2 ; + skos:exactMatch UMLS:C0812231, + HGNC:12780, + HGNC_symbol:WNT2 ; biolink:category biolink:Gene . OMIM:147880 a owl:Class ; @@ -41993,17 +43021,18 @@ OMIM:147880 a owl:Class ; PMID:8428753 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:614689 ; - oboInOwl:hasDbXref UMLS:C1416409, - UMLS:C3540094, - UMLS:C3553493, - UMLS:C5394550 ; oboInOwl:hasExactSynonym "IL6R", "cd126", "interleukin 6 receptor", "interleukin 6 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3570 ; - skos:exactMatch HGNC_symbol:IL6R ; + skos:exactMatch UMLS:C1416409, + UMLS:C3540094, + UMLS:C3553493, + UMLS:C5394550, + HGNC:6019, + HGNC_symbol:IL6R ; biolink:category biolink:Gene . OMIM:147890 a owl:Class ; @@ -42011,7 +43040,6 @@ OMIM:147890 a owl:Class ; IAO:0000142 PMID:24048477, PMID:24121441, PMID:8798556 ; - oboInOwl:hasDbXref UMLS:C1417511 ; oboInOwl:hasExactSynonym "MX2", "interferon-inducible protein p78, second locus", "mx dynamin-like gtpase 2", @@ -42019,7 +43047,9 @@ OMIM:147890 a owl:Class ; "myxovirus resistance 2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4600 ; - skos:exactMatch HGNC_symbol:MX2 ; + skos:exactMatch UMLS:C1417511, + HGNC:7533, + HGNC_symbol:MX2 ; biolink:category biolink:Gene . OMIM:147892 a owl:Class ; @@ -42035,13 +43065,14 @@ OMIM:147892 a owl:Class ; PMID:8488562, PMID:8964838, PMID:9192862 ; - oboInOwl:hasDbXref UMLS:C1414051 ; oboInOwl:hasExactSynonym "DIO1", "deiodinase, iodothyronine, iia 1", "thyroxine deiodinase, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1733 ; - skos:exactMatch HGNC_symbol:DIO1 ; + skos:exactMatch UMLS:C1414051, + HGNC:2883, + HGNC_symbol:DIO1 ; biolink:category biolink:Gene . OMIM:147900 a owl:Class ; @@ -42051,13 +43082,13 @@ OMIM:147900 a owl:Class ; PMID:6039590, PMID:7424974, PMID:953233 ; - oboInOwl:hasDbXref UMLS:C0268349 ; oboInOwl:hasExactSynonym "articular hypermobility syndrome", "eds xi, formerly", "eds11, formerly", "ehlers-danlos syndrome, iia xi, formerly", "familial joint instability syndrome", "joint laxity, familial" ; + skos:exactMatch UMLS:C0268349 ; biolink:category biolink:Disease . OMIM:147935 a owl:Class ; @@ -42067,7 +43098,6 @@ OMIM:147935 a owl:Class ; PMID:1334488, PMID:7835886, PMID:8227002 ; - oboInOwl:hasDbXref UMLS:C1418550 ; oboInOwl:hasExactSynonym "SERPINA4", "kallistatin", "protease inhibitor 4", @@ -42075,7 +43105,9 @@ OMIM:147935 a owl:Class ; "tissue kallikrein inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5267 ; - skos:exactMatch HGNC_symbol:SERPINA4 ; + skos:exactMatch UMLS:C1418550, + HGNC:8948, + HGNC_symbol:SERPINA4 ; biolink:category biolink:Gene . OMIM:147940 a owl:Class ; @@ -42097,7 +43129,6 @@ OMIM:147940 a owl:Class ; PMID:8622964, PMID:8692984, PMID:8954967 ; - oboInOwl:hasDbXref UMLS:C1415831 ; oboInOwl:hasExactSynonym "IAPP", "amylin", "diabetes-associated peptide", @@ -42105,7 +43136,9 @@ OMIM:147940 a owl:Class ; "islet amyloid polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3375 ; - skos:exactMatch HGNC_symbol:IAPP ; + skos:exactMatch UMLS:C1415831, + HGNC:5329, + HGNC_symbol:IAPP ; biolink:category biolink:Gene . OMIM:147950 a owl:Class ; @@ -42163,13 +43196,13 @@ OMIM:147950 a owl:Class ; PMID:8322819, PMID:8462198, PMID:9589647 ; - oboInOwl:hasDbXref UMLS:C1563720, - ORPHA:432, - ORPHA:478 ; oboInOwl:hasExactSynonym "HH2", "hypogonadotropic hypogonadism 2 with or without anosmia", "kallmann syndrome 2" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C1563720, + ORPHA:432, + ORPHA:478 ; biolink:category biolink:Disease . OMIM:148000 a owl:Class ; @@ -42195,11 +43228,11 @@ OMIM:148000 a owl:Class ; PMID:8705864, PMID:9077377, PMID:9569061 ; - oboInOwl:hasDbXref UMLS:C3538945, - UMLS:C3541461 ; oboInOwl:hasExactSynonym "kaposi sarcoma, susceptibility to", "multicentric castleman disease, susceptibility to", "multiple idiopathic pigmented hemangiosarcoma, susceptibility to" ; + skos:exactMatch UMLS:C3538945, + UMLS:C3541461 ; biolink:category biolink:Disease . OMIM:148020 a owl:Class ; @@ -42215,14 +43248,15 @@ OMIM:148020 a owl:Class ; PMID:2461075, PMID:2468493, PMID:9284906 ; - oboInOwl:hasDbXref UMLS:C1334314 ; oboInOwl:hasExactSynonym "KRT19", "k19", "keratin 19", "keratin, iia i, 40-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3880 ; - skos:exactMatch HGNC_symbol:KRT19 ; + skos:exactMatch UMLS:C1334314, + HGNC:6436, + HGNC_symbol:KRT19 ; biolink:category biolink:Gene . OMIM:148021 a owl:Class ; @@ -42232,25 +43266,27 @@ OMIM:148021 a owl:Class ; PMID:6157756, PMID:6189921, PMID:835579 ; - oboInOwl:hasDbXref UMLS:C1428152 ; oboInOwl:hasExactSynonym "KRTAP5-9", "keratin associated protein 5-9", "keratin, cuticle, ultrahigh-sulfur, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3846 ; - skos:exactMatch HGNC_symbol:KRTAP5-9 ; + skos:exactMatch UMLS:C1428152, + HGNC:23604, + HGNC_symbol:KRTAP5-9 ; biolink:category biolink:Gene . OMIM:148022 a owl:Class ; rdfs:label "KRTAP5-1" ; IAO:0000142 PMID:1724400 ; - oboInOwl:hasDbXref UMLS:C1428144 ; oboInOwl:hasExactSynonym "KRTAP5-1", "keratin, cuticle, ultrahigh-sulfur, 1-like", "keratin-associated protein 5-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387264 ; - skos:exactMatch HGNC_symbol:KRTAP5-1 ; + skos:exactMatch UMLS:C1428144, + HGNC:23596, + HGNC_symbol:KRTAP5-1 ; biolink:category biolink:Gene . OMIM:148030 a owl:Class ; @@ -42268,7 +43304,6 @@ OMIM:148030 a owl:Class ; PMID:6173133, PMID:6186381, PMID:7511022 ; - oboInOwl:hasDbXref UMLS:C1416722 ; oboInOwl:hasExactSynonym "KRT15", "cytokeratin 15", "k15", @@ -42276,7 +43311,9 @@ OMIM:148030 a owl:Class ; "keratin 15, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3866 ; - skos:exactMatch HGNC_symbol:KRT15 ; + skos:exactMatch UMLS:C1416722, + HGNC:6421, + HGNC_symbol:KRT15 ; biolink:category biolink:Gene . OMIM:148040 a owl:Class ; @@ -42325,7 +43362,13 @@ OMIM:148040 a owl:Class ; PMID:9740251 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:131960 ; - oboInOwl:hasDbXref UMLS:C0079295, + oboInOwl:hasExactSynonym "KRT5", + "k5", + "kb5", + "keratin 5, iia 2" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:3852 ; + skos:exactMatch UMLS:C0079295, UMLS:C0079299, UMLS:C0080333, UMLS:C0432316, @@ -42334,14 +43377,9 @@ OMIM:148040 a owl:Class ; UMLS:C3715082, UMLS:C4016235, UMLS:C4016236, - UMLS:C4552092 ; - oboInOwl:hasExactSynonym "KRT5", - "k5", - "kb5", - "keratin 5, iia 2" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:3852 ; - skos:exactMatch HGNC_symbol:KRT5 ; + UMLS:C4552092, + HGNC:6442, + HGNC_symbol:KRT5 ; biolink:category biolink:Gene . OMIM:148041 a owl:Class ; @@ -42359,15 +43397,16 @@ OMIM:148041 a owl:Class ; PMID:7545493 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:615726 ; - oboInOwl:hasDbXref UMLS:C1416743, - UMLS:C3714948 ; oboInOwl:hasExactSynonym "KRT6A", "kb6", "keratin 6a, iia 2", "keratin, epidermal iia ii, k6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3853 ; - skos:exactMatch HGNC_symbol:KRT6A ; + skos:exactMatch UMLS:C1416743, + UMLS:C3714948, + HGNC:6443, + HGNC_symbol:KRT6A ; biolink:category biolink:Gene . OMIM:148042 a owl:Class ; @@ -42382,8 +43421,6 @@ OMIM:148042 a owl:Class ; PMID:9618173 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:615728 ; - oboInOwl:hasDbXref UMLS:C1416744, - UMLS:C3714949 ; oboInOwl:hasExactSynonym "KRT6B", "cytokeratin 6b", "kb10", @@ -42391,7 +43428,10 @@ OMIM:148042 a owl:Class ; "keratin, epidermal iia ii, k6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3854 ; - skos:exactMatch HGNC_symbol:KRT6B ; + skos:exactMatch UMLS:C1416744, + UMLS:C3714949, + HGNC:6444, + HGNC_symbol:KRT6B ; biolink:category biolink:Gene . OMIM:148043 a owl:Class ; @@ -42408,8 +43448,6 @@ OMIM:148043 a owl:Class ; PMID:9171831 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:618767 ; - oboInOwl:hasDbXref UMLS:C1416740, - UMLS:C5231495 ; oboInOwl:hasExactSynonym "KRT3", "cytokeratin 3", "k3", @@ -42417,7 +43455,10 @@ OMIM:148043 a owl:Class ; "keratin 3, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3850 ; - skos:exactMatch HGNC_symbol:KRT3 ; + skos:exactMatch UMLS:C1416740, + UMLS:C5231495, + HGNC:6440, + HGNC_symbol:KRT3 ; biolink:category biolink:Gene . OMIM:148059 a owl:Class ; @@ -42426,7 +43467,6 @@ OMIM:148059 a owl:Class ; PMID:1713141, PMID:2415537, PMID:2459129 ; - oboInOwl:hasDbXref UMLS:C1416745 ; oboInOwl:hasExactSynonym "KRT7", "k7", "kb7", @@ -42436,7 +43476,9 @@ OMIM:148059 a owl:Class ; "sarcolectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3855 ; - skos:exactMatch HGNC_symbol:KRT7 ; + skos:exactMatch UMLS:C1416745, + HGNC:6445, + HGNC_symbol:KRT7 ; biolink:category biolink:Gene . OMIM:148060 a owl:Class ; @@ -42454,14 +43496,15 @@ OMIM:148060 a owl:Class ; PMID:9011570 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:215600 ; - oboInOwl:hasDbXref UMLS:C1416746 ; oboInOwl:hasExactSynonym "KRT8", "k8", "kb8 cytokeratin 8", "keratin 8, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3856 ; - skos:exactMatch HGNC_symbol:KRT8 ; + skos:exactMatch UMLS:C1416746, + HGNC:6446, + HGNC_symbol:KRT8 ; biolink:category biolink:Gene . OMIM:148065 a owl:Class ; @@ -42473,8 +43516,6 @@ OMIM:148065 a owl:Class ; PMID:9284906 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:615785 ; - oboInOwl:hasDbXref UMLS:C1416716, - UMLS:C4014321 ; oboInOwl:hasExactSynonym "KRT13", "cytokeratin 13", "k13", @@ -42482,7 +43523,10 @@ OMIM:148065 a owl:Class ; "keratin 13, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3860 ; - skos:exactMatch HGNC_symbol:KRT13 ; + skos:exactMatch UMLS:C1416716, + UMLS:C4014321, + HGNC:6415, + HGNC_symbol:KRT13 ; biolink:category biolink:Gene . OMIM:148066 a owl:Class ; @@ -42524,14 +43568,15 @@ OMIM:148066 a owl:Class ; PMID:9804355 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:161000 ; - oboInOwl:hasDbXref UMLS:C1416717 ; oboInOwl:hasExactSynonym "KRT14", "k14", "ka14", "keratin 14, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3861 ; - skos:exactMatch HGNC_symbol:KRT14 ; + skos:exactMatch UMLS:C1416717, + HGNC:6416, + HGNC_symbol:KRT14 ; biolink:category biolink:Gene . OMIM:148067 a owl:Class ; @@ -42552,14 +43597,15 @@ OMIM:148067 a owl:Class ; PMID:8595410 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:613000 ; - oboInOwl:hasDbXref UMLS:C1416724 ; oboInOwl:hasExactSynonym "KRT16", "k16", "ka16", "keratin 16, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3868 ; - skos:exactMatch HGNC_symbol:KRT16 ; + skos:exactMatch UMLS:C1416724, + HGNC:6423, + HGNC_symbol:KRT16 ; biolink:category biolink:Gene . OMIM:148069 a owl:Class ; @@ -42582,7 +43628,6 @@ OMIM:148069 a owl:Class ; PMID:9767294 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:184500 ; - oboInOwl:hasDbXref UMLS:C1416728 ; oboInOwl:hasExactSynonym "KRT17", "cytokeratin 17", "k17", @@ -42590,7 +43635,9 @@ OMIM:148069 a owl:Class ; "keratin 17, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3872 ; - skos:exactMatch HGNC_symbol:KRT17 ; + skos:exactMatch UMLS:C1416728, + HGNC:6427, + HGNC_symbol:KRT17 ; biolink:category biolink:Gene . OMIM:148070 a owl:Class ; @@ -42607,7 +43654,6 @@ OMIM:148070 a owl:Class ; PMID:9011570 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:215600 ; - oboInOwl:hasDbXref UMLS:C1416731 ; oboInOwl:hasExactSynonym "KRT18", "cytokeratin 18", "k18", @@ -42615,7 +43661,9 @@ OMIM:148070 a owl:Class ; "keratin 18, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3875 ; - skos:exactMatch HGNC_symbol:KRT18 ; + skos:exactMatch UMLS:C1416731, + HGNC:6430, + HGNC_symbol:KRT18 ; biolink:category biolink:Gene . OMIM:148080 a owl:Class ; @@ -42642,14 +43690,15 @@ OMIM:148080 a owl:Class ; PMID:9036939 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:607602 ; - oboInOwl:hasDbXref UMLS:C1416714 ; oboInOwl:hasExactSynonym "KRT10", "k10", "ka10", "keratin 10, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3858 ; - skos:exactMatch HGNC_symbol:KRT10 ; + skos:exactMatch UMLS:C1416714, + HGNC:6413, + HGNC_symbol:KRT10 ; biolink:category biolink:Gene . OMIM:148100 a owl:Class ; @@ -42658,8 +43707,8 @@ OMIM:148100 a owl:Class ; PMID:13288798, PMID:20711176, PMID:2071936 ; - oboInOwl:hasDbXref UMLS:C3149494 ; oboInOwl:hasExactSynonym "keloid formation" ; + skos:exactMatch UMLS:C3149494 ; biolink:category biolink:Disease . OMIM:148180 a owl:Class ; @@ -42672,13 +43721,14 @@ OMIM:148180 a owl:Class ; PMID:7749227, PMID:7973639, PMID:9326632 ; - oboInOwl:hasDbXref UMLS:C0919507 ; oboInOwl:hasExactSynonym "FGF7", "fibroblast growth factor 7", "keratinocyte growth factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2252 ; - skos:exactMatch HGNC_symbol:FGF7 ; + skos:exactMatch UMLS:C0919507, + HGNC:3685, + HGNC_symbol:FGF7 ; biolink:category biolink:Gene . OMIM:148181 a owl:Class ; @@ -42693,8 +43743,8 @@ OMIM:148190 a owl:Class ; PMID:7362501, PMID:7627897, PMID:7668281 ; - oboInOwl:hasDbXref UMLS:C1835698 ; oboInOwl:hasExactSynonym "keratitis, hereditary" ; + skos:exactMatch UMLS:C1835698 ; biolink:category biolink:Disease . OMIM:148200 a owl:Class ; @@ -42702,10 +43752,10 @@ OMIM:148200 a owl:Class ; IAO:0000142 PMID:14213210, PMID:29366613, PMID:3604606 ; - oboInOwl:hasDbXref UMLS:C1835697 ; oboInOwl:hasExactSynonym "KEFH", "keratitis fugax hereditaria", "keratoendotheliitis fugax hereditaria" ; + skos:exactMatch UMLS:C1835697 ; biolink:category biolink:Disease . OMIM:148210 a owl:Class ; @@ -42733,12 +43783,12 @@ OMIM:148210 a owl:Class ; PMID:9122065, PMID:9420534, PMID:9655320 ; - oboInOwl:hasDbXref UMLS:C0265336, - ORPHA:477 ; oboInOwl:hasExactSynonym "KIDAD", "keratitis-ichthyosis-deafness syndrome, autosomal dominant", "kid syndrome, autosomal dominant" ; rdfs:subClassOf OMIMPS:148210 ; + skos:exactMatch UMLS:C0265336, + ORPHA:477 ; biolink:category biolink:Disease . OMIM:148350 a owl:Class ; @@ -42750,8 +43800,8 @@ OMIM:148350 a owl:Class ; PMID:2956987, PMID:8736341, PMID:9139825 ; - oboInOwl:hasDbXref UMLS:C1835672 ; oboInOwl:hasExactSynonym "keratoderma, palmoplantar, with deafness" ; + skos:exactMatch UMLS:C1835672 ; biolink:category biolink:Disease . OMIM:148360 a owl:Class ; @@ -42759,23 +43809,23 @@ OMIM:148360 a owl:Class ; IAO:0000142 PMID:2976839, PMID:6227331, PMID:6446889 ; - oboInOwl:hasDbXref UMLS:C1835671 ; oboInOwl:hasExactSynonym "axonal neuropathy with palmoplantar keratoderma", "charcot-marie-tooth disease with palmoplantar keratoderma and nail dystrophy", - "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy" . + "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy" ; + skos:exactMatch UMLS:C1835671 . OMIM:148390 a owl:Class ; rdfs:label "keratosis, familial actinic" ; IAO:0000142 PMID:2757930 ; - oboInOwl:hasDbXref UMLS:C2675099 ; - oboInOwl:hasExactSynonym "keratosis, familial actinic" . + oboInOwl:hasExactSynonym "keratosis, familial actinic" ; + skos:exactMatch UMLS:C2675099 . OMIM:148520 a owl:Class ; rdfs:label "keratosis palmaris et plantaris with clinodactyly" ; IAO:0000142 PMID:13683208, PMID:6215959 ; - oboInOwl:hasDbXref UMLS:C1835663 ; - oboInOwl:hasExactSynonym "keratosis palmaris et plantaris with clinodactyly" . + oboInOwl:hasExactSynonym "keratosis palmaris et plantaris with clinodactyly" ; + skos:exactMatch UMLS:C1835663 . OMIM:148730 a owl:Class ; rdfs:label "keratosis, focal palmoplantar and gingival" ; @@ -42785,26 +43835,26 @@ OMIM:148730 a owl:Class ; PMID:5240495, PMID:6212891, PMID:6447853 ; - oboInOwl:hasDbXref UMLS:C1835650 ; oboInOwl:hasExactSynonym "focal palmoplantar and gingival hyperkeratosis syndrome", "keratosis, focal palmoplantar and gingival" ; + skos:exactMatch UMLS:C1835650 ; biolink:category biolink:Disease . OMIM:148750 a owl:Class ; rdfs:label "G7P1" ; - oboInOwl:hasDbXref UMLS:C1414898 ; oboInOwl:hasExactSynonym "G7P1", "kinase-like protein g7p1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1414898 ; biolink:category biolink:Gene . OMIM:148800 a owl:Class ; rdfs:label "kleeblattschaedel" ; IAO:0000142 PMID:19293681 ; - oboInOwl:hasDbXref UMLS:C1860050 ; oboInOwl:hasExactSynonym "cloverleaf skull", "kleeblattschadel", - "kleeblattschaedel" . + "kleeblattschaedel" ; + skos:exactMatch UMLS:C1860050 . OMIM:148840 a owl:Class ; rdfs:label "kleine-levin hibernation syndrome" ; @@ -42816,9 +43866,9 @@ OMIM:148840 a owl:Class ; PMID:18438947, PMID:18667831, PMID:6948538 ; - oboInOwl:hasDbXref UMLS:C0206085 ; oboInOwl:hasExactSynonym "kleine-levin hibernation syndrome", "kleine-levin syndrome" ; + skos:exactMatch UMLS:C0206085 ; biolink:category biolink:Disease . OMIM:148860 a owl:Class ; @@ -42838,8 +43888,8 @@ OMIM:149100 a owl:Class ; IAO:0000142 PMID:12838553, PMID:20761632, PMID:5910872 ; - oboInOwl:hasDbXref UMLS:C0264000 ; oboInOwl:hasExactSynonym "knuckle pads" ; + skos:exactMatch UMLS:C0264000 ; biolink:category biolink:Disease . OMIM:149200 a owl:Class ; @@ -42850,11 +43900,11 @@ OMIM:149200 a owl:Class ; PMID:15952212, PMID:6015974, PMID:8151643 ; - oboInOwl:hasDbXref UMLS:C0266004, - ORPHA:2698 ; oboInOwl:hasExactSynonym "BAPS", "bart-pumphrey syndrome", "knuckle pads, leukonychia, and sensorineural deafness" ; + skos:exactMatch UMLS:C0266004, + ORPHA:2698 ; biolink:category biolink:Disease . OMIM:149300 a owl:Class ; @@ -42862,26 +43912,26 @@ OMIM:149300 a owl:Class ; IAO:0000142 PMID:14400609, PMID:5432288, PMID:7396551 ; - oboInOwl:hasDbXref UMLS:C0266000, - UMLS:C3276971 ; oboInOwl:hasExactSynonym "NDNC2", "koilonychia with leukonychia", "koilonychia, hereditary", "nail disorder, nonsyndromic congenital, 2", "spoon nails" ; rdfs:subClassOf OMIMPS:161050 ; + skos:exactMatch UMLS:C0266000, + UMLS:C3276971 ; biolink:category biolink:Disease . OMIM:149500 a owl:Class ; rdfs:label "kyrle disease" ; IAO:0000142 PMID:4746641 ; - oboInOwl:hasDbXref UMLS:C0263382 ; - oboInOwl:hasExactSynonym "kyrle disease" . + oboInOwl:hasExactSynonym "kyrle disease" ; + skos:exactMatch UMLS:C0263382 . OMIM:149600 a owl:Class ; rdfs:label "labia minora, incomplete adhesion of" ; - oboInOwl:hasDbXref UMLS:C1835613 ; - oboInOwl:hasExactSynonym "labia minora, incomplete adhesion of" . + oboInOwl:hasExactSynonym "labia minora, incomplete adhesion of" ; + skos:exactMatch UMLS:C1835613 . OMIM:149750 a owl:Class ; rdfs:label "LALBA" ; @@ -42891,12 +43941,13 @@ OMIM:149750 a owl:Class ; PMID:6163135, PMID:7644538, PMID:7708733 ; - oboInOwl:hasDbXref UMLS:C1442889 ; oboInOwl:hasExactSynonym "LALBA", "lactalbumin, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3906 ; - skos:exactMatch HGNC_symbol:LALBA ; + skos:exactMatch UMLS:C1442889, + HGNC:6480, + HGNC_symbol:LALBA ; biolink:category biolink:Gene . OMIM:150100 a owl:Class ; @@ -42921,13 +43972,14 @@ OMIM:150100 a owl:Class ; PMID:8314553 ; RO:0002525 CHR:9606chr12p12.1 ; RO:0003303 OMIM:614128 ; - oboInOwl:hasDbXref UMLS:C1416817 ; oboInOwl:hasExactSynonym "LDHB", "lactate dehydrogenase B", "ldh, subunit h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3945 ; - skos:exactMatch HGNC_symbol:LDHB ; + skos:exactMatch UMLS:C1416817, + HGNC:6541, + HGNC_symbol:LDHB ; biolink:category biolink:Gene . OMIM:150150 a owl:Class ; @@ -42947,13 +43999,14 @@ OMIM:150150 a owl:Class ; PMID:5774192, PMID:6756329, PMID:7382246 ; - oboInOwl:hasDbXref UMLS:C1416820 ; oboInOwl:hasExactSynonym "LDHC", "lactate dehydrogenase c", "ldh, testicular form" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3948 ; - skos:exactMatch HGNC_symbol:LDHC ; + skos:exactMatch UMLS:C1416820, + HGNC:6544, + HGNC_symbol:LDHC ; biolink:category biolink:Gene . OMIM:150160 a owl:Class ; @@ -42963,8 +44016,8 @@ OMIM:150160 a owl:Class ; OMIM:150170 a owl:Class ; rdfs:label "lactic acidosis, chronic adult form" ; IAO:0000142 PMID:4313378 ; - oboInOwl:hasDbXref UMLS:C1835591 ; - oboInOwl:hasExactSynonym "lactic acidosis, chronic adult form" . + oboInOwl:hasExactSynonym "lactic acidosis, chronic adult form" ; + skos:exactMatch UMLS:C1835591 . OMIM:150200 a owl:Class ; rdfs:label "CSH1" ; @@ -42987,26 +44040,28 @@ OMIM:150200 a owl:Class ; PMID:7384802, PMID:9329365 ; RO:0002525 CHR:9606chr17q23.3 ; - oboInOwl:hasDbXref UMLS:C1413752 ; oboInOwl:hasExactSynonym "CSH1", "chorionic somatomammotropin a", "chorionic somatomammotropin hormone 1", "lactogen, placental" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1442 ; - skos:exactMatch HGNC_symbol:CSH1 ; + skos:exactMatch UMLS:C1413752, + HGNC:2440, + HGNC_symbol:CSH1 ; biolink:category biolink:Gene . OMIM:150205 a owl:Class ; rdfs:label "LPO" ; IAO:0000142 PMID:2222811, PMID:9030719 ; - oboInOwl:hasDbXref UMLS:C1416903 ; oboInOwl:hasExactSynonym "LPO", "lactoperoxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4025 ; - skos:exactMatch HGNC_symbol:LPO ; + skos:exactMatch UMLS:C1416903, + HGNC:6678, + HGNC_symbol:LPO ; biolink:category biolink:Gene . OMIM:150210 a owl:Class ; @@ -43027,13 +44082,14 @@ OMIM:150210 a owl:Class ; PMID:8162571, PMID:9770539, PMID:9895117 ; - oboInOwl:hasDbXref UMLS:C1416933 ; oboInOwl:hasExactSynonym "LTF", "lactoferrin", "lactotransferrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4057 ; - skos:exactMatch HGNC_symbol:LTF ; + skos:exactMatch UMLS:C1416933, + HGNC:6720, + HGNC_symbol:LTF ; biolink:category biolink:Gene . OMIM:150220 a owl:Class ; @@ -43080,13 +44136,13 @@ OMIM:150230 a owl:Class ; PMID:903151, PMID:91515 ; RO:0002525 CHR:9606chr8q24.11-q24.13 ; - oboInOwl:hasDbXref UMLS:C0023003, - ORPHA:502 ; oboInOwl:hasExactSynonym "TRPS2", "chromosome 8q24.1 deletion syndrome", "langer-giedion syndrome", "trichorhinophalangeal syndrome, iia 2" ; rdfs:subClassOf OMIMPS:190350 ; + skos:exactMatch UMLS:C0023003, + ORPHA:502 ; biolink:category biolink:Disease . OMIM:150240 a owl:Class ; @@ -43104,12 +44160,13 @@ OMIM:150240 a owl:Class ; PMID:7921537 ; RO:0002525 CHR:9606chr7q31.1 ; RO:0003303 OMIM:615191 ; - oboInOwl:hasDbXref UMLS:C1416780 ; oboInOwl:hasExactSynonym "LAMB1", "laminin, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3912 ; - skos:exactMatch HGNC_symbol:LAMB1 ; + skos:exactMatch UMLS:C1416780, + HGNC:6486, + HGNC_symbol:LAMB1 ; biolink:category biolink:Gene . OMIM:150250 a owl:Class ; @@ -43133,9 +44190,9 @@ OMIM:150250 a owl:Class ; PMID:8213905, PMID:8609132, PMID:899784 ; - oboInOwl:hasDbXref UMLS:C0175778 ; oboInOwl:hasExactSynonym "LRS", "larsen syndrome" ; + skos:exactMatch UMLS:C0175778 ; biolink:category biolink:Disease . OMIM:150260 a owl:Class ; @@ -43148,19 +44205,19 @@ OMIM:150260 a owl:Class ; PMID:7205912, PMID:944010, PMID:9600735 ; - oboInOwl:hasDbXref UMLS:C0396059 ; oboInOwl:hasExactSynonym "gerhardt syndrome", "labd", "laryngeal abductor paralysis", "vocal cord dysfunction, familial" ; + skos:exactMatch UMLS:C0396059 ; biolink:category biolink:Disease . OMIM:150280 a owl:Class ; rdfs:label "laryngomalacia" ; IAO:0000142 PMID:1256207, PMID:1554019 ; - oboInOwl:hasDbXref UMLS:C0264303 ; - oboInOwl:hasExactSynonym "laryngomalacia" . + oboInOwl:hasExactSynonym "laryngomalacia" ; + skos:exactMatch UMLS:C0264303 . OMIM:150290 a owl:Class ; rdfs:label "LAMC1" ; @@ -43176,13 +44233,14 @@ OMIM:150290 a owl:Class ; PMID:7987320, PMID:9151674, PMID:9885251 ; - oboInOwl:hasDbXref UMLS:C1416785 ; oboInOwl:hasExactSynonym "LAMC1", "laminin b2, formerly", "laminin, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3915 ; - skos:exactMatch HGNC_symbol:LAMC1 ; + skos:exactMatch UMLS:C1416785, + HGNC:6492, + HGNC_symbol:LAMC1 ; biolink:category biolink:Gene . OMIM:150292 a owl:Class ; @@ -43199,7 +44257,6 @@ OMIM:150292 a owl:Class ; PMID:8786121 ; RO:0002525 CHR:9606chr1q25.3 ; RO:0003303 OMIM:619786 ; - oboInOwl:hasDbXref UMLS:C1416786 ; oboInOwl:hasExactSynonym "LAMC2", "kalinin", "lam5, gamma-2 subunit", @@ -43210,7 +44267,9 @@ OMIM:150292 a owl:Class ; "laminin, nicein, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3918 ; - skos:exactMatch HGNC_symbol:LAMC2 ; + skos:exactMatch UMLS:C1416786, + HGNC:6493, + HGNC_symbol:LAMC2 ; biolink:category biolink:Gene . OMIM:150300 a owl:Class ; @@ -43220,8 +44279,8 @@ OMIM:150300 a owl:Class ; PMID:5173012, PMID:5930355, PMID:8004090 ; - oboInOwl:hasDbXref UMLS:C1835555 ; - oboInOwl:hasExactSynonym "larynx, congenital partial atresia of" . + oboInOwl:hasExactSynonym "larynx, congenital partial atresia of" ; + skos:exactMatch UMLS:C1835555 . OMIM:150310 a owl:Class ; rdfs:label "LAMB3" ; @@ -43254,7 +44313,6 @@ OMIM:150310 a owl:Class ; PMID:9856855 ; RO:0002525 CHR:9606chr1q32.2 ; RO:0003303 OMIM:226700 ; - oboInOwl:hasDbXref UMLS:C1416783 ; oboInOwl:hasExactSynonym "LAMB3", "lam5, beta-3 subunit", "laminin 5, beta-3 subunit", @@ -43262,7 +44320,9 @@ OMIM:150310 a owl:Class ; "laminin, beta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3914 ; - skos:exactMatch HGNC_symbol:LAMB3 ; + skos:exactMatch UMLS:C1416783, + HGNC:6490, + HGNC_symbol:LAMB3 ; biolink:category biolink:Gene . OMIM:150320 a owl:Class ; @@ -43281,13 +44341,14 @@ OMIM:150320 a owl:Class ; PMID:7921537 ; RO:0002525 CHR:9606chr18p11.31 ; RO:0003303 OMIM:615960 ; - oboInOwl:hasDbXref UMLS:C1416775 ; oboInOwl:hasExactSynonym "LAMA1", "laminin a", "laminin, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284217 ; - skos:exactMatch HGNC_symbol:LAMA1 ; + skos:exactMatch UMLS:C1416775, + HGNC:6481, + HGNC_symbol:LAMA1 ; biolink:category biolink:Gene . OMIM:150325 a owl:Class ; @@ -43310,13 +44371,14 @@ OMIM:150325 a owl:Class ; PMID:8662701 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:609049 ; - oboInOwl:hasDbXref UMLS:C1416781 ; oboInOwl:hasExactSynonym "LAMB2", "laminin s", "laminin, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3913 ; - skos:exactMatch HGNC_symbol:LAMB2 ; + skos:exactMatch UMLS:C1416781, + HGNC:6487, + HGNC_symbol:LAMB2 ; biolink:category biolink:Gene . OMIM:150330 a owl:Class ; @@ -43461,7 +44523,15 @@ OMIM:150330 a owl:Class ; PMID:9106535 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:619793 ; - oboInOwl:hasDbXref UMLS:C0033300, + oboInOwl:hasExactSynonym "LMNA", + "lamin a", + "lamin a/c", + "lamin c", + "prelamin a", + "progerin" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:4000 ; + skos:exactMatch UMLS:C0033300, UMLS:C0406585, UMLS:C0410190, UMLS:C0796031, @@ -43475,16 +44545,9 @@ OMIM:150330 a owl:Class ; UMLS:C2986382, UMLS:C4016241, UMLS:C4016243, - UMLS:C5399785 ; - oboInOwl:hasExactSynonym "LMNA", - "lamin a", - "lamin a/c", - "lamin c", - "prelamin a", - "progerin" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:4000 ; - skos:exactMatch HGNC_symbol:LMNA ; + UMLS:C5399785, + HGNC:6636, + HGNC_symbol:LMNA ; biolink:category biolink:Gene . OMIM:150340 a owl:Class ; @@ -43511,13 +44574,14 @@ OMIM:150340 a owl:Class ; PMID:8838815 ; RO:0002525 CHR:9606chr5q23.2 ; RO:0003303 OMIM:619179 ; - oboInOwl:hasDbXref UMLS:C1334345 ; oboInOwl:hasExactSynonym "LMNB1", "lamin b1", "lmnb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4001 ; - skos:exactMatch HGNC_symbol:LMNB1 ; + skos:exactMatch UMLS:C1334345, + HGNC:6637, + HGNC_symbol:LMNB1 ; biolink:category biolink:Gene . OMIM:150341 a owl:Class ; @@ -43534,14 +44598,15 @@ OMIM:150341 a owl:Class ; PMID:8041756 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:608709 ; - oboInOwl:hasDbXref UMLS:C1416878, - UMLS:C3887501, - UMLS:C4225289 ; oboInOwl:hasExactSynonym "LMNB2", "lamin b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84823 ; - skos:exactMatch HGNC_symbol:LMNB2 ; + skos:exactMatch UMLS:C1416878, + UMLS:C3887501, + UMLS:C4225289, + HGNC:6638, + HGNC_symbol:LMNB2 ; biolink:category biolink:Gene . OMIM:150370 a owl:Class ; @@ -43563,7 +44628,6 @@ OMIM:150370 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr3p22.1 ; RO:0003303 OMIM:271400 ; - oboInOwl:hasDbXref UMLS:C1539696 ; oboInOwl:hasExactSynonym "RPSA", "lambr", "laminin receptor 1", @@ -43571,7 +44635,9 @@ OMIM:150370 a owl:Class ; "ribosomal protein sa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3921 ; - skos:exactMatch HGNC_symbol:RPSA ; + skos:exactMatch UMLS:C1539696, + HGNC:6502, + HGNC_symbol:RPSA ; biolink:category biolink:Gene . OMIM:150390 a owl:Class ; @@ -43583,19 +44649,20 @@ OMIM:150390 a owl:Class ; PMID:8287682 ; RO:0002525 CHR:9606chr2p22.3 ; RO:0003303 OMIM:619451 ; - oboInOwl:hasDbXref UMLS:C1416928 ; oboInOwl:hasExactSynonym "LTBP1", "latent transforming growth factor-beta-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4052 ; - skos:exactMatch HGNC_symbol:LTBP1 ; + skos:exactMatch UMLS:C1416928, + HGNC:6714, + HGNC_symbol:LTBP1 ; biolink:category biolink:Gene . OMIM:150500 a owl:Class ; rdfs:label "lattice degeneration of retina leading to retinal detachment" ; IAO:0000142 PMID:5636024 ; - oboInOwl:hasDbXref UMLS:C1835491 ; - oboInOwl:hasExactSynonym "lattice degeneration of retina leading to retinal detachment" . + oboInOwl:hasExactSynonym "lattice degeneration of retina leading to retinal detachment" ; + skos:exactMatch UMLS:C1835491 . OMIM:150570 a owl:Class ; rdfs:label "LGALS1" ; @@ -43609,13 +44676,14 @@ OMIM:150570 a owl:Class ; PMID:3020551, PMID:8432540, PMID:8449510 ; - oboInOwl:hasDbXref UMLS:C1416829 ; oboInOwl:hasExactSynonym "LGALS1", "galectin 1", "lectin, galactoside-binding, soluble, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3956 ; - skos:exactMatch HGNC_symbol:LGALS1 ; + skos:exactMatch UMLS:C1416829, + HGNC:6561, + HGNC_symbol:LGALS1 ; biolink:category biolink:Gene . OMIM:150571 a owl:Class ; @@ -43627,21 +44695,22 @@ OMIM:150571 a owl:Class ; PMID:8449510 ; RO:0002525 CHR:9606chr22q13.1 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1416830 ; oboInOwl:hasExactSynonym "LGALS2", "galectin 2", "lectin, galactoside-binding, soluble, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3957 ; - skos:exactMatch HGNC_symbol:LGALS2 ; + skos:exactMatch UMLS:C1416830, + HGNC:6562, + HGNC_symbol:LGALS2 ; biolink:category biolink:Gene . OMIM:150590 a owl:Class ; rdfs:label "leg ulcers, familial, of juvenile onset" ; IAO:0000142 PMID:1670650, PMID:9546515 ; - oboInOwl:hasDbXref UMLS:C1835489 ; - oboInOwl:hasExactSynonym "leg ulcers, familial, of juvenile onset" . + oboInOwl:hasExactSynonym "leg ulcers, familial, of juvenile onset" ; + skos:exactMatch UMLS:C1835489 . OMIM:150600 a owl:Class ; rdfs:label "legg-calve-perthes disease" ; @@ -43656,12 +44725,12 @@ OMIM:150600 a owl:Class ; PMID:7890797, PMID:8047373, PMID:963906 ; - oboInOwl:hasDbXref UMLS:C0023234 ; oboInOwl:hasExactSynonym "LCPD", "lcp", "legg-calve-perthes disease", "legg-perthes disease", "perthes disease" ; + skos:exactMatch UMLS:C0023234 ; biolink:category biolink:Disease . OMIM:150699 a owl:Class ; @@ -43676,38 +44745,38 @@ OMIM:150699 a owl:Class ; PMID:3355999, PMID:9253340, PMID:9892177 ; - oboInOwl:hasDbXref UMLS:C0042133 ; oboInOwl:hasExactSynonym "UL", "leiomyoma, uterine" ; + skos:exactMatch UMLS:C0042133 ; biolink:category biolink:Disease . OMIM:150700 a owl:Class ; rdfs:label "leiomyoma of vulva and esophagus" ; IAO:0000142 PMID:14295842, PMID:4721358 ; - oboInOwl:hasDbXref UMLS:C1835488 ; oboInOwl:hasExactSynonym "leiomyoma of vulva and esophagus", - "leiomyomatosis, esophagogastric and vulvar" . + "leiomyomatosis, esophagogastric and vulvar" ; + skos:exactMatch UMLS:C1835488 . OMIM:150900 a owl:Class ; rdfs:label "lentigines" ; IAO:0000142 PMID:15422118 ; - oboInOwl:hasDbXref UMLS:C0023321 ; - oboInOwl:hasExactSynonym "lentigines" . + oboInOwl:hasExactSynonym "lentigines" ; + skos:exactMatch UMLS:C0023321 . OMIM:151000 a owl:Class ; rdfs:label "lentiginosis, centrofacial neurodysraphic" ; IAO:0000142 PMID:766813 ; - oboInOwl:hasDbXref UMLS:C1835484 ; oboInOwl:hasExactSynonym "lentiginosis, centrofacial neurodysraphic", - "lentiginosis, touraine iia" . + "lentiginosis, touraine iia" ; + skos:exactMatch UMLS:C1835484 . OMIM:151020 a owl:Class ; rdfs:label "None" ; - oboInOwl:hasDbXref UMLS:C1835483 ; oboInOwl:hasExactSynonym "lch receptor", "lentil agglutinin binding" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1835483 ; biolink:category biolink:Gene . OMIM:151100 a owl:Class ; @@ -43744,14 +44813,14 @@ OMIM:151100 a owl:Class ; PMID:848980, PMID:8807336, PMID:9222968 ; - oboInOwl:hasDbXref UMLS:C0175704, - UMLS:C4551484, - ORPHA:500 ; oboInOwl:hasExactSynonym "LPRD1", "lentiginosis, cardiomyopathic", "leopard syndrome 1", "multiple lentigines syndrome" ; rdfs:subClassOf OMIMPS:151100 ; + skos:exactMatch UMLS:C0175704, + UMLS:C4551484, + ORPHA:500 ; biolink:category biolink:Disease . OMIM:151200 a owl:Class ; @@ -43762,9 +44831,9 @@ OMIM:151200 a owl:Class ; PMID:6791240, PMID:6794698 ; RO:0002525 CHR:9606chr8q22.1 ; - oboInOwl:hasDbXref UMLS:C1835450 ; oboInOwl:hasExactSynonym "chromosome 8q22.1 duplication syndrome", "leri pleonosteosis" ; + skos:exactMatch UMLS:C1835450 ; biolink:category biolink:Disease . OMIM:151210 a owl:Class ; @@ -43776,14 +44845,14 @@ OMIM:151210 a owl:Class ; PMID:15643621, PMID:448481, PMID:7173874 ; - oboInOwl:hasDbXref UMLS:C1835437, - ORPHA:85166 ; oboInOwl:hasExactSynonym "PLSDT", "lethal short-limbed platyspondylic dwarfism, torrance iia", "platyspondylic lethal skeletal dysplasia, luton iia", "platyspondylic lethal skeletal dysplasia, torrance iia", "thanatophoric dysplasia, luton variant", "thanatophoric dysplasia, torrance variant" ; + skos:exactMatch UMLS:C1835437, + ORPHA:85166 ; biolink:category biolink:Disease . OMIM:151250 a owl:Class ; @@ -43801,12 +44870,12 @@ OMIM:151250 a owl:Class ; PMID:6623310, PMID:6961451, PMID:730175 ; - oboInOwl:hasDbXref UMLS:C1835435 ; oboInOwl:hasExactSynonym "AL-A1", "e7-associated cell-surface antigen", "lethal antigen--a1", "species antigen 11-1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1835435 ; biolink:category biolink:Gene . OMIM:151300 a owl:Class ; @@ -43820,7 +44889,6 @@ OMIM:151300 a owl:Class ; PMID:5953194, PMID:8550619, PMID:9733056 ; - oboInOwl:hasDbXref UMLS:C1416891 ; oboInOwl:hasExactSynonym "LNPEP", "insulin-responsive aminopeptidase, mouse, homolog of", "leucine aminopeptidase of placenta", @@ -43828,18 +44896,20 @@ OMIM:151300 a owl:Class ; "oxytocinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4012 ; - skos:exactMatch HGNC_symbol:LNPEP ; + skos:exactMatch UMLS:C1416891, + HGNC:6656, + HGNC_symbol:LNPEP ; biolink:category biolink:Gene . OMIM:151310 a owl:Class ; rdfs:label "LEUT" ; IAO:0000142 PMID:6717430 ; - oboInOwl:hasDbXref UMLS:C1415797 ; oboInOwl:hasExactSynonym "LEUT", "high l-leucine transport", "leucine transport, high" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3343 ; + skos:exactMatch UMLS:C1415797 ; biolink:category biolink:Gene . OMIM:151350 a owl:Class ; @@ -43853,8 +44923,6 @@ OMIM:151350 a owl:Class ; PMID:7177110 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:615438 ; - oboInOwl:hasDbXref UMLS:C1416799, - UMLS:C3809522 ; oboInOwl:hasExactSynonym "LARS1", "lars", "leucyl-trna synthetase 1", @@ -43863,14 +44931,17 @@ OMIM:151350 a owl:Class ; "rntls" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51520 ; - skos:exactMatch HGNC_symbol:LARS1 ; + skos:exactMatch UMLS:C1416799, + UMLS:C3809522, + HGNC:6512, + HGNC_symbol:LARS1 ; biolink:category biolink:Gene . OMIM:151380 a owl:Class ; rdfs:label "leukemia, acute monocytic" ; IAO:0000142 PMID:295149 ; - oboInOwl:hasDbXref UMLS:C0023465 ; - oboInOwl:hasExactSynonym "leukemia, acute monocytic" . + oboInOwl:hasExactSynonym "leukemia, acute monocytic" ; + skos:exactMatch UMLS:C0023465 . OMIM:151385 a owl:Class ; rdfs:label "RUNX1" ; @@ -43944,15 +45015,6 @@ OMIM:151385 a owl:Class ; PMID:9596646 ; RO:0002525 CHR:9606chr21q22.12 ; RO:0003303 OMIM:601399 ; - oboInOwl:hasDbXref UMLS:C0919449, - UMLS:C1335654, - UMLS:C1835425, - UMLS:C1837551, - UMLS:C1838720, - UMLS:C1851466, - UMLS:C1857714, - UMLS:C1864633, - UMLS:C3274667 ; oboInOwl:hasExactSynonym "RUNX1", "acute myeloid leukemia 1 gene", "aml1/eto fusion gene", @@ -43968,7 +45030,17 @@ OMIM:151385 a owl:Class ; "runx1/znf687 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:861 ; - skos:exactMatch HGNC_symbol:RUNX1 ; + skos:exactMatch UMLS:C0919449, + UMLS:C1335654, + UMLS:C1835425, + UMLS:C1837551, + UMLS:C1838720, + UMLS:C1851466, + UMLS:C1857714, + UMLS:C1864633, + UMLS:C3274667, + HGNC:10471, + HGNC_symbol:RUNX1 ; biolink:category biolink:Gene . OMIM:151390 a owl:Class ; @@ -44023,10 +45095,10 @@ OMIM:151400 a owl:Class ; PMID:7001171, PMID:818930, PMID:8900225 ; - oboInOwl:hasDbXref UMLS:C0023434 ; oboInOwl:hasExactSynonym "CLL", "leukemia, chronic lymphatic", "leukemia, chronic lymphocytic" ; + skos:exactMatch UMLS:C0023434 ; biolink:category biolink:Disease . OMIM:151440 a owl:Class ; @@ -44036,12 +45108,13 @@ OMIM:151440 a owl:Class ; PMID:3162254, PMID:8432525 ; RO:0002525 CHR:9606chr19p13.13 ; - oboInOwl:hasDbXref UMLS:C1334354 ; oboInOwl:hasExactSynonym "LYL1", "lymphoblastic leukemia-derived sequence 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4066 ; - skos:exactMatch HGNC_symbol:LYL1 ; + skos:exactMatch UMLS:C1334354, + HGNC:6734, + HGNC_symbol:LYL1 ; biolink:category biolink:Gene . OMIM:151441 a owl:Class ; @@ -44049,13 +45122,13 @@ OMIM:151441 a owl:Class ; IAO:0000142 PMID:2682663, PMID:8274736, PMID:8400234 ; - oboInOwl:hasDbXref UMLS:C1412765 ; oboInOwl:hasExactSynonym "BCL5", "b-cell leukemia/lymphoma 5", "bcl3, formerly", "leukemia/lymphoma, chronic b-cell, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:603 ; + skos:exactMatch UMLS:C1412765 ; biolink:category biolink:Gene . OMIM:151442 a owl:Class ; @@ -44075,7 +45148,6 @@ OMIM:151442 a owl:Class ; PMID:8104060, PMID:8288240, PMID:9788875 ; - oboInOwl:hasDbXref UMLS:C1416797 ; oboInOwl:hasExactSynonym "STMN1", "leukemia-associated phosphoprotein p18", "metablastin", @@ -44084,7 +45156,9 @@ OMIM:151442 a owl:Class ; "stathmin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3925 ; - skos:exactMatch HGNC_symbol:STMN1 ; + skos:exactMatch UMLS:C1416797, + HGNC:6510, + HGNC_symbol:STMN1 ; biolink:category biolink:Gene . OMIM:151443 a owl:Class ; @@ -44102,12 +45176,13 @@ OMIM:151443 a owl:Class ; PMID:8864865 ; RO:0002525 CHR:9606chr5p13.1 ; RO:0003303 OMIM:601559 ; - oboInOwl:hasDbXref UMLS:C1334339 ; oboInOwl:hasExactSynonym "LIFR", "leukemia inhibitory factor receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3977 ; - skos:exactMatch HGNC_symbol:LIFR ; + skos:exactMatch UMLS:C1334339, + HGNC:6597, + HGNC_symbol:LIFR ; biolink:category biolink:Gene . OMIM:151445 a owl:Class ; @@ -44119,7 +45194,6 @@ OMIM:151445 a owl:Class ; PMID:26140596, PMID:3034567, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1414549 ; oboInOwl:hasExactSynonym "FCER2", "c-type lectin domain family 4, member j", "fc fragment of ige, low affinity ii, receptor for", @@ -44129,7 +45203,9 @@ OMIM:151445 a owl:Class ; "leukocyte antigen cd23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2208 ; - skos:exactMatch HGNC_symbol:FCER2 ; + skos:exactMatch UMLS:C1414549, + HGNC:3612, + HGNC_symbol:FCER2 ; biolink:category biolink:Gene . OMIM:151460 a owl:Class ; @@ -44178,7 +45254,6 @@ OMIM:151460 a owl:Class ; PMID:9068311 ; RO:0002525 CHR:9606chr1q31.3-q32.1 ; RO:0003303 OMIM:609532 ; - oboInOwl:hasDbXref UMLS:C1335285 ; oboInOwl:hasExactSynonym "PTPRC", "b220", "cd45", @@ -44189,7 +45264,9 @@ OMIM:151460 a owl:Class ; "t200 glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5788 ; - skos:exactMatch HGNC_symbol:PTPRC ; + skos:exactMatch UMLS:C1335285, + HGNC:9666, + HGNC_symbol:PTPRC ; biolink:category biolink:Gene . OMIM:151465 a owl:Class ; @@ -44200,14 +45277,13 @@ OMIM:151500 a owl:Class ; rdfs:label "leukocyte nuclear appendages, hereditary prevalence of" ; IAO:0000142 PMID:14444807, PMID:6782798 ; - oboInOwl:hasDbXref UMLS:C1835405 ; - oboInOwl:hasExactSynonym "leukocyte nuclear appendages, hereditary prevalence of" . + oboInOwl:hasExactSynonym "leukocyte nuclear appendages, hereditary prevalence of" ; + skos:exactMatch UMLS:C1835405 . OMIM:151510 a owl:Class ; rdfs:label "ITGAX" ; IAO:0000142 PMID:3284962, PMID:3327687 ; - oboInOwl:hasDbXref UMLS:C1334145 ; oboInOwl:hasExactSynonym "ITGAX", "cd11c", "integrin, alpha-x", @@ -44216,7 +45292,9 @@ OMIM:151510 a owl:Class ; "myeloid membrane antigen, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3687 ; - skos:exactMatch HGNC_symbol:ITGAX ; + skos:exactMatch UMLS:C1334145, + HGNC:6152, + HGNC_symbol:ITGAX ; biolink:category biolink:Gene . OMIM:151520 a owl:Class ; @@ -44227,25 +45305,27 @@ OMIM:151520 a owl:Class ; PMID:7685902, PMID:7851890, PMID:8661736 ; - oboInOwl:hasDbXref UMLS:C1334352 ; oboInOwl:hasExactSynonym "LTK", "leukocyte tyrosine kinase", "protein tyrosine kinase-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4058 ; - skos:exactMatch HGNC_symbol:LTK ; + skos:exactMatch UMLS:C1334352, + HGNC:6721, + HGNC_symbol:LTK ; biolink:category biolink:Gene . OMIM:151523 a owl:Class ; rdfs:label "CD37" ; IAO:0000142 PMID:10891477, PMID:8436422 ; - oboInOwl:hasDbXref UMLS:C1413220 ; oboInOwl:hasExactSynonym "CD37", "leukocyte surface antigen cd37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:951 ; - skos:exactMatch HGNC_symbol:CD37 ; + skos:exactMatch UMLS:C1413220, + HGNC:1666, + HGNC_symbol:CD37 ; biolink:category biolink:Gene . OMIM:151525 a owl:Class ; @@ -44255,13 +45335,14 @@ OMIM:151525 a owl:Class ; PMID:8307585, PMID:8404042, PMID:8436422 ; - oboInOwl:hasDbXref UMLS:C1413228 ; oboInOwl:hasExactSynonym "CD53", "antigen mox44 identified by monoclonal antibody mrc-ox44", "leukocyte surface antigen cd53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:963 ; - skos:exactMatch HGNC_symbol:CD53 ; + skos:exactMatch UMLS:C1413228, + HGNC:1686, + HGNC_symbol:CD53 ; biolink:category biolink:Gene . OMIM:151530 a owl:Class ; @@ -44275,7 +45356,6 @@ OMIM:151530 a owl:Class ; PMID:2428842, PMID:2564851, PMID:2903074 ; - oboInOwl:hasDbXref UMLS:C1412409 ; oboInOwl:hasExactSynonym "ANPEP", "alanyl aminopeptidase", "aminopeptidase n", @@ -44283,7 +45363,9 @@ OMIM:151530 a owl:Class ; "leukocyte surface antigen gp150" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:290 ; - skos:exactMatch HGNC_symbol:ANPEP ; + skos:exactMatch UMLS:C1412409, + HGNC:500, + HGNC_symbol:ANPEP ; biolink:category biolink:Gene . OMIM:151540 a owl:Class ; @@ -44304,12 +45386,13 @@ OMIM:151570 a owl:Class ; PMID:2821541, PMID:3654641, PMID:7628486 ; - oboInOwl:hasDbXref UMLS:C1416927 ; oboInOwl:hasExactSynonym "LTA4H", "leukotriene a4 hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4048 ; - skos:exactMatch HGNC_symbol:LTA4H ; + skos:exactMatch UMLS:C1416927, + HGNC:6710, + HGNC_symbol:LTA4H ; biolink:category biolink:Gene . OMIM:151580 a owl:Class ; @@ -44322,18 +45405,18 @@ OMIM:151590 a owl:Class ; PMID:3827280, PMID:6591797, PMID:7927338 ; - oboInOwl:hasDbXref UMLS:C0023652 ; oboInOwl:hasExactSynonym "LSA", - "lichen sclerosus et atrophicus" . + "lichen sclerosus et atrophicus" ; + skos:exactMatch UMLS:C0023652 . OMIM:151610 a owl:Class ; rdfs:label "oculomotor-levator synkinesis" ; IAO:0000142 PMID:15616506, PMID:3767680 ; - oboInOwl:hasDbXref UMLS:C1835403 ; oboInOwl:hasExactSynonym "OCLEVS", "levator-medial rectus synkinesis", - "oculomotor-levator synkinesis" . + "oculomotor-levator synkinesis" ; + skos:exactMatch UMLS:C1835403 . OMIM:151620 a owl:Class ; rdfs:label "lichen planus, familial" ; @@ -44343,19 +45426,20 @@ OMIM:151620 a owl:Class ; PMID:656330, PMID:656331, PMID:6838234 ; - oboInOwl:hasDbXref UMLS:C1835402 ; - oboInOwl:hasExactSynonym "lichen planus, familial" . + oboInOwl:hasExactSynonym "lichen planus, familial" ; + skos:exactMatch UMLS:C1835402 . OMIM:151625 a owl:Class ; rdfs:label "LGTN" ; IAO:0000142 PMID:20566627, PMID:2482295 ; - oboInOwl:hasDbXref UMLS:C1416841 ; oboInOwl:hasExactSynonym "LGTN", "ligatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100529141 ; - skos:exactMatch HGNC_symbol:LGTN ; + skos:exactMatch UMLS:C1416841, + HGNC:39494, + HGNC_symbol:LGTN ; biolink:category biolink:Gene . OMIM:151626 a owl:Class ; @@ -44391,43 +45475,43 @@ OMIM:151626 a owl:Class ; PMID:9140383, PMID:9140393, PMID:9590283 ; - oboInOwl:hasDbXref UMLS:C2681637 ; oboInOwl:hasExactSynonym "LRE1", "line retrotransposable element 1", "line-1.2 retrotransposable element" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C2681637 ; biolink:category biolink:Gene . OMIM:151627 a owl:Class ; rdfs:label "None" ; - oboInOwl:hasDbXref UMLS:C1835397 ; oboInOwl:hasExactSynonym "linkin" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1835397 ; biolink:category biolink:Gene . OMIM:151628 a owl:Class ; rdfs:label "LRE2" ; IAO:0000142 PMID:7920631, PMID:8387534 ; - oboInOwl:hasDbXref UMLS:C1416907 ; oboInOwl:hasExactSynonym "LRE2", "line retrotransposable element 2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1416907 ; biolink:category biolink:Gene . OMIM:151630 a owl:Class ; rdfs:label "lip, median nodule of upper" ; IAO:0000142 PMID:1068420, PMID:8030663 ; - oboInOwl:hasDbXref UMLS:C1835396 ; oboInOwl:hasExactSynonym "lip, median nodule of upper" ; + skos:exactMatch UMLS:C1835396 ; biolink:category biolink:Disease . OMIM:151640 a owl:Class ; rdfs:label "lip, hamartomatous" ; - oboInOwl:hasDbXref UMLS:C1835395 ; oboInOwl:hasExactSynonym "enlargement of lower 51p", - "lip, hamartomatous" . + "lip, hamartomatous" ; + skos:exactMatch UMLS:C1835395 . OMIM:151670 a owl:Class ; rdfs:label "LIPC" ; @@ -44451,10 +45535,6 @@ OMIM:151670 a owl:Class ; PMID:8732782 ; RO:0002525 CHR:9606chr15q21.3 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1416867, - UMLS:C2675071, - UMLS:C3151466, - UMLS:C3837967 ; oboInOwl:hasExactSynonym "LIPC", "hepatic lipase", "hepatic triglyceride lipase", @@ -44462,7 +45542,12 @@ OMIM:151670 a owl:Class ; "liph" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3990 ; - skos:exactMatch HGNC_symbol:LIPC ; + skos:exactMatch UMLS:C1416867, + UMLS:C2675071, + UMLS:C3151466, + UMLS:C3837967, + HGNC:6619, + HGNC_symbol:LIPC ; biolink:category biolink:Gene . OMIM:151680 a owl:Class ; @@ -44482,7 +45567,6 @@ OMIM:151690 a owl:Class ; PMID:2968983, PMID:2969496, PMID:2971450 ; - oboInOwl:hasDbXref UMLS:C1412417 ; oboInOwl:hasExactSynonym "ANXA1", "annexin 1", "annexin a1", @@ -44490,13 +45574,15 @@ OMIM:151690 a owl:Class ; "lipocortin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:301 ; - skos:exactMatch HGNC_symbol:ANXA1 ; + skos:exactMatch UMLS:C1412417, + HGNC:533, + HGNC_symbol:ANXA1 ; biolink:category biolink:Gene . OMIM:151700 a owl:Class ; rdfs:label "lipoma of the conjunctiva" ; - oboInOwl:hasDbXref UMLS:C1835373 ; - oboInOwl:hasExactSynonym "lipoma of the conjunctiva" . + oboInOwl:hasExactSynonym "lipoma of the conjunctiva" ; + skos:exactMatch UMLS:C1835373 . OMIM:151710 a owl:Class ; IAO:0100001 OMIM:151740 ; @@ -44527,13 +45613,14 @@ OMIM:151750 a owl:Class ; PMID:8812477 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:615980 ; - oboInOwl:hasDbXref UMLS:C1416868 ; oboInOwl:hasExactSynonym "LIPE", "hsl", "lipase, hormone-sensitive" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3991 ; - skos:exactMatch HGNC_symbol:LIPE ; + skos:exactMatch UMLS:C1416868, + HGNC:6621, + HGNC_symbol:LIPE ; biolink:category biolink:Gene . OMIM:151800 a owl:Class ; @@ -44552,12 +45639,12 @@ OMIM:151800 a owl:Class ; PMID:8237682, PMID:8447321, PMID:9674814 ; - oboInOwl:hasDbXref UMLS:C0023804, - ORPHA:2398 ; oboInOwl:hasExactSynonym "MSL", "lipodystrophy, cephalothoracic", "lipomatosis, familial benign cervical", - "lipomatosis, multiple symmetric" . + "lipomatosis, multiple symmetric" ; + skos:exactMatch UMLS:C0023804, + ORPHA:2398 . OMIM:151900 a owl:Class ; rdfs:label "lipomatosis, multiple" ; @@ -44578,11 +45665,11 @@ OMIM:151900 a owl:Class ; PMID:7395901, PMID:7670494, PMID:8453640 ; - oboInOwl:hasDbXref UMLS:C1275273, - UMLS:C3489413 ; oboInOwl:hasExactSynonym "lipoma", "lipomatosis, familial multiple", "lipomatosis, multiple" ; + skos:exactMatch UMLS:C1275273, + UMLS:C3489413 ; biolink:category biolink:Disease . OMIM:151990 a owl:Class ; @@ -44595,20 +45682,21 @@ OMIM:151990 a owl:Class ; PMID:8432532, PMID:9240454, PMID:9338787 ; - oboInOwl:hasDbXref UMLS:C1416801 ; oboInOwl:hasExactSynonym "LBP", "lipopolysaccharide-binding protein", "lps-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3929 ; - skos:exactMatch HGNC_symbol:LBP ; + skos:exactMatch UMLS:C1416801, + HGNC:6517, + HGNC_symbol:LBP ; biolink:category biolink:Gene . OMIM:152100 a owl:Class ; rdfs:label "lipoprotein types--ld system" ; IAO:0000142 PMID:4955857 ; - oboInOwl:hasDbXref UMLS:C1835371 ; oboInOwl:hasExactSynonym "lipoprotein types--ld system" ; + skos:exactMatch UMLS:C1835371 ; biolink:category biolink:Disease . OMIM:152200 a owl:Class ; @@ -44666,24 +45754,25 @@ OMIM:152200 a owl:Class ; PMID:9770530 ; RO:0002525 CHR:9606chr6q25.3-q26 ; RO:0003303 OMIM:618807 ; - oboInOwl:hasDbXref UMLS:C0065058, - UMLS:C1835362, - UMLS:C4016245, - UMLS:C4016246, - UMLS:C5436941 ; oboInOwl:hasExactSynonym "LPA", "apolipoprotein(a)", "lipoprotein types--lp system", "lipoprotein(a)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4018 ; - skos:exactMatch HGNC_symbol:LPA ; + skos:exactMatch UMLS:C0065058, + UMLS:C1835362, + UMLS:C4016245, + UMLS:C4016246, + UMLS:C5436941, + HGNC:6667, + HGNC_symbol:LPA ; biolink:category biolink:Gene . OMIM:152300 a owl:Class ; rdfs:label "lipoprotein types--lt system" ; - oboInOwl:hasDbXref UMLS:C1835359 ; - oboInOwl:hasExactSynonym "lipoprotein types--lt system" . + oboInOwl:hasExactSynonym "lipoprotein types--lt system" ; + skos:exactMatch UMLS:C1835359 . OMIM:152310 a owl:Class ; rdfs:label "TFPI" ; @@ -44695,7 +45784,6 @@ OMIM:152310 a owl:Class ; PMID:3492226, PMID:8104873, PMID:9867356 ; - oboInOwl:hasDbXref UMLS:C1420705 ; oboInOwl:hasExactSynonym "TFPI", "extrinsic pathway inhibitor", "lipoprotein-associated coagulation inhibitor", @@ -44703,7 +45791,9 @@ OMIM:152310 a owl:Class ; "tissue factor pathway inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7035 ; - skos:exactMatch HGNC_symbol:TFPI ; + skos:exactMatch UMLS:C1420705, + HGNC:11760, + HGNC_symbol:TFPI ; biolink:category biolink:Gene . OMIM:152390 a owl:Class ; @@ -44731,13 +45821,14 @@ OMIM:152390 a owl:Class ; PMID:9062372, PMID:9698605 ; RO:0002525 CHR:9606chr10q11.21 ; - oboInOwl:hasDbXref UMLS:C1412361 ; oboInOwl:hasExactSynonym "5-lipoxygenase", "ALOX5", "arachidonate 5-lipoxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:240 ; - skos:exactMatch HGNC_symbol:ALOX5 ; + skos:exactMatch UMLS:C1412361, + HGNC:435, + HGNC_symbol:ALOX5 ; biolink:category biolink:Gene . OMIM:152391 a owl:Class ; @@ -44750,14 +45841,15 @@ OMIM:152391 a owl:Class ; PMID:2377602, PMID:28400162, PMID:9177384 ; - oboInOwl:hasDbXref UMLS:C1412356 ; oboInOwl:hasExactSynonym "12-lipoxygenase", "12lo", "ALOX12", "arachidonate 12-oxidoreductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:239 ; - skos:exactMatch HGNC_symbol:ALOX12 ; + skos:exactMatch UMLS:C1412356, + HGNC:429, + HGNC_symbol:ALOX12 ; biolink:category biolink:Gene . OMIM:152392 a owl:Class ; @@ -44773,39 +45865,40 @@ OMIM:152392 a owl:Class ; PMID:30197642, PMID:30643255, PMID:3202857 ; - oboInOwl:hasDbXref UMLS:C1332082, - UMLS:C5193165 ; oboInOwl:hasExactSynonym "15-lipoxygenase, reticulocyte arachidonate", "ALOX15", "arachidonate 15-lipoxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246 ; - skos:exactMatch HGNC_symbol:ALOX15 ; + skos:exactMatch UMLS:C1332082, + UMLS:C5193165, + HGNC:433, + HGNC_symbol:ALOX15 ; biolink:category biolink:Gene . OMIM:152400 a owl:Class ; rdfs:label "lipoprotein, variant of beta" ; IAO:0000142 PMID:17838103 ; - oboInOwl:hasDbXref UMLS:C1835357 ; oboInOwl:hasExactSynonym "beta-lipoprotein, double", - "lipoprotein, variant of beta" . + "lipoprotein, variant of beta" ; + skos:exactMatch UMLS:C1835357 . OMIM:152420 a owl:Class ; rdfs:label "lithium transport" ; IAO:0000142 PMID:1237277, PMID:696928 ; - oboInOwl:hasDbXref UMLS:C1835356 ; - oboInOwl:hasExactSynonym "lithium transport" . + oboInOwl:hasExactSynonym "lithium transport" ; + skos:exactMatch UMLS:C1835356 . OMIM:152422 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:1351037, PMID:2364173, PMID:8318735 ; - oboInOwl:hasDbXref UMLS:C1835355 ; oboInOwl:hasExactSynonym "lcr-alpha", "locus control region, alpha" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1835355 ; biolink:category biolink:Gene . OMIM:152423 a owl:Class ; @@ -44824,11 +45917,11 @@ OMIM:152424 a owl:Class ; PMID:8314558 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:613985 ; - oboInOwl:hasDbXref UMLS:C1835353 ; oboInOwl:hasExactSynonym "lcr-beta", "locus control region, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:109580095 ; + skos:exactMatch UMLS:C1835353 ; biolink:category biolink:Gene . OMIM:152426 a owl:Class ; @@ -44887,7 +45980,6 @@ OMIM:152427 a owl:Class ; PMID:9927399 ; RO:0002525 CHR:9606chr7q36.1 ; RO:0003303 OMIM:613688 ; - oboInOwl:hasDbXref UMLS:C1416572 ; oboInOwl:hasExactSynonym "KCNH2", "erg1", "ether-a-go-go-related gene, human", @@ -44896,14 +45988,16 @@ OMIM:152427 a owl:Class ; "potassium channel, voltage-gated, subfamily h, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3757 ; - skos:exactMatch HGNC_symbol:KCNH2 ; + skos:exactMatch UMLS:C1416572, + HGNC:6251, + HGNC_symbol:KCNH2 ; biolink:category biolink:Gene . OMIM:152450 a owl:Class ; rdfs:label "low density lipoprotein, variation 1n molecular weight of" ; IAO:0000142 PMID:166386 ; - oboInOwl:hasDbXref UMLS:C1835321 ; - oboInOwl:hasExactSynonym "low density lipoprotein, variation 1n molecular weight of" . + oboInOwl:hasExactSynonym "low density lipoprotein, variation 1n molecular weight of" ; + skos:exactMatch UMLS:C1835321 . OMIM:152460 a owl:Class ; IAO:0100001 OMIM:137950 ; @@ -44916,13 +46010,13 @@ OMIM:152550 a owl:Class ; PMID:3968124, PMID:448432, PMID:4762808 ; - oboInOwl:hasDbXref UMLS:C1835320 ; - oboInOwl:hasExactSynonym "lumbar stenosis, familial" . + oboInOwl:hasExactSynonym "lumbar stenosis, familial" ; + skos:exactMatch UMLS:C1835320 . OMIM:152600 a owl:Class ; rdfs:label "lunulae of fingernails" ; - oboInOwl:hasDbXref UMLS:C1186306 ; - oboInOwl:hasExactSynonym "lunulae of fingernails" . + oboInOwl:hasExactSynonym "lunulae of fingernails" ; + skos:exactMatch UMLS:C1186306 . OMIM:152690 a owl:Class ; rdfs:label "XRCC6" ; @@ -44943,7 +46037,6 @@ OMIM:152690 a owl:Class ; PMID:9702186, PMID:9736627, PMID:9826654 ; - oboInOwl:hasDbXref UMLS:C1823878 ; oboInOwl:hasExactSynonym "XRCC6", "ku antigen, 70-kd subunit", "lupus autoantigen p70", @@ -44953,7 +46046,9 @@ OMIM:152690 a owl:Class ; "x-ray repair, complementing defective, 1n chinese hamster, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2547 ; - skos:exactMatch HGNC_symbol:XRCC6 ; + skos:exactMatch UMLS:C1823878, + HGNC:4055, + HGNC_symbol:XRCC6 ; biolink:category biolink:Gene . OMIM:152760 a owl:Class ; @@ -44986,9 +46081,6 @@ OMIM:152760 a owl:Class ; PMID:9544983 ; RO:0002525 CHR:9606chr8p21.2 ; RO:0003303 OMIM:614841 ; - oboInOwl:hasDbXref UMLS:C1415169, - UMLS:C2986382, - UMLS:C4016249 ; oboInOwl:hasExactSynonym "GNRH1", "gnrh", "gonadotropin-releasing hormone 1", @@ -44996,7 +46088,11 @@ OMIM:152760 a owl:Class ; "prolactin release-inhibiting factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2796 ; - skos:exactMatch HGNC_symbol:GNRH1 ; + skos:exactMatch UMLS:C1415169, + UMLS:C2986382, + UMLS:C4016249, + HGNC:4419, + HGNC_symbol:GNRH1 ; biolink:category biolink:Gene . OMIM:152761 a owl:Class ; @@ -45045,7 +46141,6 @@ OMIM:152780 a owl:Class ; PMID:9694256 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:228300 ; - oboInOwl:hasDbXref UMLS:C1416842 ; oboInOwl:hasExactSynonym "LHB", "chorionic gonadotropin, beta polypeptide 4", "interstitial cell stimulating hormone, beta chain", @@ -45053,7 +46148,9 @@ OMIM:152780 a owl:Class ; "lutropin, beta chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3972 ; - skos:exactMatch HGNC_symbol:LHB ; + skos:exactMatch UMLS:C1416842, + HGNC:6584, + HGNC_symbol:LHB ; biolink:category biolink:Gene . OMIM:152790 a owl:Class ; @@ -45111,7 +46208,6 @@ OMIM:152790 a owl:Class ; PMID:9851790 ; RO:0002525 CHR:9606chr2p16.3 ; RO:0003303 OMIM:176410 ; - oboInOwl:hasDbXref UMLS:C1416843 ; oboInOwl:hasExactSynonym "LHCGR", "gonadotropin receptor", "luteinizing hormone receptor", @@ -45119,7 +46215,9 @@ OMIM:152790 a owl:Class ; "lutropin-choriogonadotropin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3973 ; - skos:exactMatch HGNC_symbol:LHCGR ; + skos:exactMatch UMLS:C1416843, + HGNC:6585, + HGNC_symbol:LHCGR ; biolink:category biolink:Gene . OMIM:152800 a owl:Class ; @@ -45130,15 +46228,15 @@ OMIM:152800 a owl:Class ; PMID:18139382, PMID:4554185, PMID:5948410 ; - oboInOwl:hasDbXref UMLS:C0024215 ; oboInOwl:hasExactSynonym "lymphangiectasia, intestinal" ; + skos:exactMatch UMLS:C0024215 ; biolink:category biolink:Disease . OMIM:152900 a owl:Class ; rdfs:label "lymphedema and cerebral arteriovenous anomaly" ; IAO:0000142 PMID:5718986 ; - oboInOwl:hasDbXref UMLS:C1835272 ; - oboInOwl:hasExactSynonym "lymphedema and cerebral arteriovenous anomaly" . + oboInOwl:hasExactSynonym "lymphedema and cerebral arteriovenous anomaly" ; + skos:exactMatch UMLS:C1835272 . OMIM:153000 a owl:Class ; IAO:0100001 OMIM:153400 ; @@ -45159,7 +46257,6 @@ OMIM:153200 a owl:Class ; PMID:6679236, PMID:7232571, PMID:7747790 ; - oboInOwl:hasDbXref UMLS:C4746631 ; oboInOwl:hasExactSynonym "LMPHM5", "lymphatic malformation 5", "lymphedema praecox", @@ -45168,6 +46265,7 @@ OMIM:153200 a owl:Class ; "meige disease", "meige lymphedema" ; rdfs:subClassOf OMIMPS:153100 ; + skos:exactMatch UMLS:C4746631 ; biolink:category biolink:Disease . OMIM:153240 a owl:Class ; @@ -45187,7 +46285,6 @@ OMIM:153240 a owl:Class ; PMID:2473156, PMID:2647302, PMID:2664786 ; - oboInOwl:hasDbXref UMLS:C1335808 ; oboInOwl:hasExactSynonym "SELL", "cd62 antigen ligand", "l-selectin", @@ -45196,7 +46293,9 @@ OMIM:153240 a owl:Class ; "selectin 50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6402 ; - skos:exactMatch HGNC_symbol:SELL ; + skos:exactMatch UMLS:C1335808, + HGNC:10720, + HGNC_symbol:SELL ; biolink:category biolink:Gene . OMIM:153243 a owl:Class ; @@ -45209,13 +46308,14 @@ OMIM:153243 a owl:Class ; PMID:6754630, PMID:7829080, PMID:8999898 ; - oboInOwl:hasDbXref UMLS:C1456796 ; oboInOwl:hasExactSynonym "TNFRSF8", "lymphoid activation antigen cd30", "tumor necrosis factor receptor superfamily, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:943 ; - skos:exactMatch HGNC_symbol:TNFRSF8 ; + skos:exactMatch UMLS:C1456796, + HGNC:11923, + HGNC_symbol:TNFRSF8 ; biolink:category biolink:Gene . OMIM:153245 a owl:Class ; @@ -45245,8 +46345,6 @@ OMIM:153245 a owl:Class ; PMID:7651541, PMID:7958926 ; RO:0002525 CHR:9606chr4q25 ; - oboInOwl:hasDbXref UMLS:C1384617, - UMLS:C1835244 ; oboInOwl:hasExactSynonym "LEF1", "lymphoid enhancer-binding factor 1", "sebaceous tumors, somatic", @@ -45254,26 +46352,29 @@ OMIM:153245 a owl:Class ; "transcription factor, t cell-specific, 1, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51176 ; - skos:exactMatch HGNC_symbol:LEF1 ; + skos:exactMatch UMLS:C1384617, + UMLS:C1835244, + HGNC:6551, + HGNC_symbol:LEF1 ; biolink:category biolink:Gene . OMIM:153280 a owl:Class ; rdfs:label "lymphocyte cytosol polypeptide, 40-kd" ; IAO:0000142 PMID:236308, PMID:7160846 ; - oboInOwl:hasDbXref UMLS:C1835243 ; oboInOwl:hasExactSynonym "lc40p", "lcp40", - "lymphocyte cytosol polypeptide, 40-kd" . + "lymphocyte cytosol polypeptide, 40-kd" ; + skos:exactMatch UMLS:C1835243 . OMIM:153290 a owl:Class ; rdfs:label "lymphocyte cytosol polypeptide, 49-kd" ; IAO:0000142 PMID:236308, PMID:7160846 ; - oboInOwl:hasDbXref UMLS:C1835242 ; oboInOwl:hasExactSynonym "lc49p", "lcp49", - "lymphocyte cytosol polypeptide, 49-kd" . + "lymphocyte cytosol polypeptide, 49-kd" ; + skos:exactMatch UMLS:C1835242 . OMIM:153300 a owl:Class ; rdfs:label "yellow nail syndrome" ; @@ -45284,10 +46385,10 @@ OMIM:153300 a owl:Class ; PMID:17459037, PMID:18197197, PMID:5933133 ; - oboInOwl:hasDbXref UMLS:C0221348 ; oboInOwl:hasExactSynonym "lymphedema and yellow nails", "yellow nail syndrome", "yns" ; + skos:exactMatch UMLS:C0221348 ; biolink:category biolink:Disease . OMIM:153310 a owl:Class ; @@ -45299,14 +46400,15 @@ OMIM:153310 a owl:Class ; PMID:8419478, PMID:9119387, PMID:942977 ; - oboInOwl:hasDbXref UMLS:C1332765 ; oboInOwl:hasExactSynonym "CLC", "charcot-leyden crystal protein", "galectin 10", "lysophospholipase of eosinophil" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1178 ; - skos:exactMatch HGNC_symbol:CLC ; + skos:exactMatch UMLS:C1332765, + HGNC:2014, + HGNC_symbol:CLC ; biolink:category biolink:Gene . OMIM:153330 a owl:Class ; @@ -45318,7 +46420,6 @@ OMIM:153330 a owl:Class ; PMID:3131762, PMID:3174652, PMID:8833154 ; - oboInOwl:hasDbXref UMLS:C1416788 ; oboInOwl:hasExactSynonym "LAMP1", "cd107a", "lysosomal membrane glycoprotein, 120-kd", @@ -45326,7 +46427,9 @@ OMIM:153330 a owl:Class ; "lysosome-associated membrane protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3916 ; - skos:exactMatch HGNC_symbol:LAMP1 ; + skos:exactMatch UMLS:C1416788, + HGNC:6499, + HGNC_symbol:LAMP1 ; biolink:category biolink:Gene . OMIM:153335 a owl:Class ; @@ -45341,13 +46444,14 @@ OMIM:153337 a owl:Class ; PMID:17932562, PMID:27708076, PMID:30580966 ; - oboInOwl:hasDbXref UMLS:C1416771 ; oboInOwl:hasExactSynonym "LAG3", "cd223 antigen", "lymphocyte activation gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3902 ; - skos:exactMatch HGNC_symbol:LAG3 ; + skos:exactMatch UMLS:C1416771, + HGNC:6476, + HGNC_symbol:LAG3 ; biolink:category biolink:Gene . OMIM:153340 a owl:Class ; @@ -45358,7 +46462,6 @@ OMIM:153340 a owl:Class ; PMID:27096320, PMID:2882510, PMID:3093892 ; - oboInOwl:hasDbXref UMLS:C1413227 ; oboInOwl:hasExactSynonym "CD5", "leu1", "ly1, mouse, homolog of", @@ -45366,7 +46469,9 @@ OMIM:153340 a owl:Class ; "t1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:921 ; - skos:exactMatch HGNC_symbol:CD5 ; + skos:exactMatch UMLS:C1413227, + HGNC:1685, + HGNC_symbol:CD5 ; biolink:category biolink:Gene . OMIM:153360 a owl:Class ; @@ -45385,14 +46490,15 @@ OMIM:153370 a owl:Class ; PMID:3514755, PMID:3528378, PMID:6196430 ; - oboInOwl:hasDbXref UMLS:C1334144 ; oboInOwl:hasExactSynonym "ITGAL", "cd11a", "integrin, alpha-l", "lymphocyte function-associated antigen, iia 1, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3683 ; - skos:exactMatch HGNC_symbol:ITGAL ; + skos:exactMatch UMLS:C1334144, + HGNC:6148, + HGNC_symbol:ITGAL ; biolink:category biolink:Gene . OMIM:153380 a owl:Class ; @@ -45400,12 +46506,12 @@ OMIM:153380 a owl:Class ; IAO:0000142 PMID:3699819, PMID:3863481, PMID:6203403 ; - oboInOwl:hasDbXref UMLS:C1835237 ; oboInOwl:hasExactSynonym "cp20", "lcp20", "lymphocyte cytosol polypeptide, 20-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7938 ; + skos:exactMatch UMLS:C1835237 ; biolink:category biolink:Gene . OMIM:153390 a owl:Class ; @@ -45439,7 +46545,6 @@ OMIM:153390 a owl:Class ; PMID:9880255 ; RO:0002525 CHR:9606chr1p35.2 ; RO:0003303 OMIM:615758 ; - oboInOwl:hasDbXref UMLS:C0919477 ; oboInOwl:hasExactSynonym "LCK", "lck protooncogene, src family tyrosine kinase", "lymphocyte-specific protein-tyrosine kinase", @@ -45447,7 +46552,9 @@ OMIM:153390 a owl:Class ; "p56(lck)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3932 ; - skos:exactMatch HGNC_symbol:LCK ; + skos:exactMatch UMLS:C0919477, + HGNC:6524, + HGNC_symbol:LCK ; biolink:category biolink:Gene . OMIM:153420 a owl:Class ; @@ -45456,13 +46563,14 @@ OMIM:153420 a owl:Class ; PMID:2458315, PMID:3309127, PMID:3514752 ; - oboInOwl:hasDbXref UMLS:C1332715 ; oboInOwl:hasExactSynonym "CD58", "cd58 antigen", "lymphocyte function-associated antigen, iia 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:965 ; - skos:exactMatch HGNC_symbol:CD58 ; + skos:exactMatch UMLS:C1332715, + HGNC:1688, + HGNC_symbol:CD58 ; biolink:category biolink:Gene . OMIM:153430 a owl:Class ; @@ -45489,7 +46597,6 @@ OMIM:153430 a owl:Class ; PMID:7332527, PMID:8428952, PMID:9022040 ; - oboInOwl:hasDbXref UMLS:C1334332 ; oboInOwl:hasExactSynonym "LCP1", "l-plastin", "lymphocyte cytosol polypeptide, 64-kd", @@ -45497,7 +46604,9 @@ OMIM:153430 a owl:Class ; "plastin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3936 ; - skos:exactMatch HGNC_symbol:LCP1 ; + skos:exactMatch UMLS:C1334332, + HGNC:6528, + HGNC_symbol:LCP1 ; biolink:category biolink:Gene . OMIM:153432 a owl:Class ; @@ -45508,22 +46617,23 @@ OMIM:153432 a owl:Class ; PMID:7561054, PMID:8468046, PMID:8838798 ; - oboInOwl:hasDbXref UMLS:C1416925 ; oboInOwl:hasExactSynonym "LSP1", "lymphocyte-specific protein", "pp52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4046 ; - skos:exactMatch HGNC_symbol:LSP1 ; + skos:exactMatch UMLS:C1416925, + HGNC:6707, + HGNC_symbol:LSP1 ; biolink:category biolink:Gene . OMIM:153435 a owl:Class ; rdfs:label "LAKL" ; - oboInOwl:hasDbXref UMLS:C1416774 ; oboInOwl:hasExactSynonym "LAKL", "lymphokine-activated killer cell ligand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3905 ; + skos:exactMatch UMLS:C1416774 ; biolink:category biolink:Gene . OMIM:153440 a owl:Class ; @@ -45548,10 +46658,6 @@ OMIM:153440 a owl:Class ; PMID:6334807 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:607507 ; - oboInOwl:hasDbXref UMLS:C0812308, - UMLS:C1832662, - UMLS:C1835223, - UMLS:C2750103 ; oboInOwl:hasExactSynonym "LTA", "lymphotoxin-a", "lymphotoxin-alpha", @@ -45559,7 +46665,12 @@ OMIM:153440 a owl:Class ; "tumor necrosis factor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4049 ; - skos:exactMatch HGNC_symbol:LTA ; + skos:exactMatch UMLS:C0812308, + UMLS:C1832662, + UMLS:C1835223, + UMLS:C2750103, + HGNC:6709, + HGNC_symbol:LTA ; biolink:category biolink:Gene . OMIM:153450 a owl:Class ; @@ -45582,12 +46693,13 @@ OMIM:153450 a owl:Class ; PMID:8566845 ; RO:0002525 CHR:9606chr12q15 ; RO:0003303 OMIM:105200 ; - oboInOwl:hasDbXref UMLS:C1416945 ; oboInOwl:hasExactSynonym "LYZ", "lysozyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4069 ; - skos:exactMatch HGNC_symbol:LYZ ; + skos:exactMatch UMLS:C1416945, + HGNC:6740, + HGNC_symbol:LYZ ; biolink:category biolink:Gene . OMIM:153454 a owl:Class ; @@ -45619,7 +46731,6 @@ OMIM:153454 a owl:Class ; PMID:9893157 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:225400 ; - oboInOwl:hasDbXref UMLS:C1538681 ; oboInOwl:hasExactSynonym "PLOD1", "lysine hydroxylase", "lysyl hydroxylase", @@ -45627,7 +46738,9 @@ OMIM:153454 a owl:Class ; "procollagen-lysine, 2-oxoglutarate 5-dioxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5351 ; - skos:exactMatch HGNC_symbol:PLOD1 ; + skos:exactMatch UMLS:C1538681, + HGNC:9081, + HGNC_symbol:PLOD1 ; biolink:category biolink:Gene . OMIM:153455 a owl:Class ; @@ -45653,14 +46766,15 @@ OMIM:153455 a owl:Class ; PMID:9371758 ; RO:0002525 CHR:9606chr5q23.1 ; RO:0003303 OMIM:617168 ; - oboInOwl:hasDbXref UMLS:C1334349, - UMLS:C4016254, - UMLS:C4284414 ; oboInOwl:hasExactSynonym "LOX", "lysyl oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4015 ; - skos:exactMatch HGNC_symbol:LOX ; + skos:exactMatch UMLS:C1334349, + UMLS:C4016254, + UMLS:C4284414, + HGNC:6664, + HGNC_symbol:LOX ; biolink:category biolink:Gene . OMIM:153456 a owl:Class ; @@ -45678,13 +46792,14 @@ OMIM:153456 a owl:Class ; PMID:9119402 ; RO:0002525 CHR:9606chr15q24.1 ; RO:0003303 OMIM:177650 ; - oboInOwl:hasDbXref UMLS:C1416898 ; oboInOwl:hasExactSynonym "LOXL1", "loxl", "lysyl oxidase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4016 ; - skos:exactMatch HGNC_symbol:LOXL1 ; + skos:exactMatch UMLS:C1416898, + HGNC:6665, + HGNC_symbol:LOXL1 ; biolink:category biolink:Gene . OMIM:153460 a owl:Class ; @@ -45698,9 +46813,9 @@ OMIM:153470 a owl:Class ; PMID:20420034, PMID:314781, PMID:8937762 ; - oboInOwl:hasDbXref UMLS:C0220690 ; oboInOwl:hasExactSynonym "cole-hughes syndrome", - "macrocephaly, benign familial" . + "macrocephaly, benign familial" ; + skos:exactMatch UMLS:C0220690 . OMIM:153480 a owl:Class ; IAO:0100001 OMIM:158350 ; @@ -45711,13 +46826,14 @@ OMIM:153615 a owl:Class ; IAO:0000142 PMID:1322908, PMID:3021731, PMID:7851883 ; - oboInOwl:hasDbXref UMLS:C1413108 ; oboInOwl:hasExactSynonym "CAPG", "capping protein, gelsolin-like", "macrophage capping protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:822 ; - skos:exactMatch HGNC_symbol:CAPG ; + skos:exactMatch UMLS:C1413108, + HGNC:1474, + HGNC_symbol:CAPG ; biolink:category biolink:Gene . OMIM:153618 a owl:Class ; @@ -45730,14 +46846,15 @@ OMIM:153618 a owl:Class ; PMID:23684988, PMID:8001982, PMID:8297379 ; - oboInOwl:hasDbXref UMLS:C1417249 ; oboInOwl:hasExactSynonym "MRC1", "cd206", "macrophage mannose receptor", "mannose receptor, c-type, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4360 ; - skos:exactMatch HGNC_symbol:MRC1 ; + skos:exactMatch UMLS:C1417249, + HGNC:7228, + HGNC_symbol:MRC1 ; biolink:category biolink:Gene . OMIM:153620 a owl:Class ; @@ -45767,13 +46884,14 @@ OMIM:153620 a owl:Class ; PMID:9826378 ; RO:0002525 CHR:9606chr22q11.23 ; RO:0003303 OMIM:604302 ; - oboInOwl:hasDbXref UMLS:C1334507 ; oboInOwl:hasExactSynonym "MIF", "macrophage migration inhibitory factor", "mmif" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4282 ; - skos:exactMatch HGNC_symbol:MIF ; + skos:exactMatch UMLS:C1334507, + HGNC:7097, + HGNC_symbol:MIF ; biolink:category biolink:Gene . OMIM:153622 a owl:Class ; @@ -45793,35 +46911,37 @@ OMIM:153622 a owl:Class ; PMID:9645438 ; RO:0002525 CHR:9606chr8p22 ; RO:0003303 OMIM:614266 ; - oboInOwl:hasDbXref UMLS:C1417374 ; oboInOwl:hasExactSynonym "MSR1", "macrophage scavenger receptor", "scavenger receptor class a, member 1", "sra" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4481 ; - skos:exactMatch HGNC_symbol:MSR1 ; + skos:exactMatch UMLS:C1417374, + HGNC:7376, + HGNC_symbol:MSR1 ; biolink:category biolink:Gene . OMIM:153630 a owl:Class ; rdfs:label "macroglossia" ; IAO:0000142 PMID:3770748, PMID:7917123 ; - oboInOwl:hasDbXref UMLS:C0024421 ; oboInOwl:hasExactSynonym "macroglossia" ; + skos:exactMatch UMLS:C0024421 ; biolink:category biolink:Disease . OMIM:153634 a owl:Class ; rdfs:label "CD68" ; IAO:0000142 PMID:7680921, PMID:9790779 ; - oboInOwl:hasDbXref UMLS:C1413234 ; oboInOwl:hasExactSynonym "CD68", "macrophage antigen cd68", "macrosialin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:968 ; - skos:exactMatch HGNC_symbol:CD68 ; + skos:exactMatch UMLS:C1413234, + HGNC:1693, + HGNC_symbol:CD68 ; biolink:category biolink:Gene . OMIM:153640 a owl:Class ; @@ -45836,9 +46956,9 @@ OMIM:153670 a owl:Class ; rdfs:label "bernard-soulier syndrome, iia a2, autosomal dominant" ; IAO:0000142 PMID:11222377, PMID:1730088 ; - oboInOwl:hasDbXref UMLS:C3277076 ; oboInOwl:hasExactSynonym "BSSA2", "bernard-soulier syndrome, iia a2, autosomal dominant" ; + skos:exactMatch UMLS:C3277076 ; biolink:category biolink:Disease . OMIM:153700 a owl:Class ; @@ -45890,7 +47010,6 @@ OMIM:153700 a owl:Class ; PMID:9445487, PMID:949078, PMID:9662395 ; - oboInOwl:hasDbXref UMLS:C0339510 ; oboInOwl:hasExactSynonym "VMD2", "best macular dystrophy", "best vitelliform macular dystrophy, multifocal", @@ -45899,6 +47018,7 @@ OMIM:153700 a owl:Class ; "vitelliform macular dystrophy, early-onset", "vitelliform macular dystrophy, juvenile-onset" ; rdfs:subClassOf OMIMPS:153840 ; + skos:exactMatch UMLS:C0339510 ; biolink:category biolink:Disease . OMIM:153860 a owl:Class ; @@ -45908,8 +47028,8 @@ OMIM:153860 a owl:Class ; OMIM:153890 a owl:Class ; rdfs:label "macular dystrophy, fenestrated sheen iia" ; IAO:0000142 PMID:454265 ; - oboInOwl:hasDbXref UMLS:C1835173 ; - oboInOwl:hasExactSynonym "macular dystrophy, fenestrated sheen iia" . + oboInOwl:hasExactSynonym "macular dystrophy, fenestrated sheen iia" ; + skos:exactMatch UMLS:C1835173 . OMIM:153900 a owl:Class ; IAO:0100001 OMIM:600110 ; @@ -45930,7 +47050,6 @@ OMIM:154030 a owl:Class ; PMID:7628487, PMID:8657568, PMID:8710501 ; - oboInOwl:hasDbXref UMLS:C1823882 ; oboInOwl:hasExactSynonym "YBX1", "dna-binding protein B", "major histocompatibility complex, class ii, y box-binding protein 1", @@ -45938,7 +47057,9 @@ OMIM:154030 a owl:Class ; "y-box binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4904 ; - skos:exactMatch HGNC_symbol:YBX1 ; + skos:exactMatch UMLS:C1823882, + HGNC:8014, + HGNC_symbol:YBX1 ; biolink:category biolink:Gene . OMIM:154040 a owl:Class ; @@ -45949,7 +47070,6 @@ OMIM:154040 a owl:Class ; PMID:2612324, PMID:27256882, PMID:3353717 ; - oboInOwl:hasDbXref UMLS:C1422315 ; oboInOwl:hasExactSynonym "NELFE", "major histocompatibility complex gene rd", "negative elongation factor complex, member e", @@ -45957,7 +47077,9 @@ OMIM:154040 a owl:Class ; "rd rna-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7936 ; - skos:exactMatch HGNC_symbol:NELFE ; + skos:exactMatch UMLS:C1422315, + HGNC:13974, + HGNC_symbol:NELFE ; biolink:category biolink:Gene . OMIM:154045 a owl:Class ; @@ -45975,14 +47097,15 @@ OMIM:154045 a owl:Class ; PMID:9238094 ; RO:0002525 CHR:9606chr19q13.41 ; RO:0003303 OMIM:615277 ; - oboInOwl:hasDbXref UMLS:C1416862 ; oboInOwl:hasExactSynonym "LIM2", "lens intrinsic membrane protein 2, 19-kd", "mp17", "mp19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3982 ; - skos:exactMatch HGNC_symbol:LIM2 ; + skos:exactMatch UMLS:C1416862, + HGNC:6610, + HGNC_symbol:LIM2 ; biolink:category biolink:Gene . OMIM:154050 a owl:Class ; @@ -46004,7 +47127,6 @@ OMIM:154050 a owl:Class ; PMID:9268644 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:615274 ; - oboInOwl:hasDbXref UMLS:C1417170 ; oboInOwl:hasExactSynonym "MIP", "aquaporin 0", "lim1", @@ -46013,7 +47135,9 @@ OMIM:154050 a owl:Class ; "mp26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4284 ; - skos:exactMatch HGNC_symbol:MIP ; + skos:exactMatch UMLS:C1417170, + HGNC:7103, + HGNC_symbol:MIP ; biolink:category biolink:Gene . OMIM:154100 a owl:Class ; @@ -46028,13 +47152,14 @@ OMIM:154100 a owl:Class ; PMID:669720 ; RO:0002525 CHR:9606chr7q11.23 ; RO:0003303 OMIM:617339 ; - oboInOwl:hasDbXref UMLS:C1417088, - UMLS:C4479208 ; oboInOwl:hasExactSynonym "MDH2", "malate dehydrogenase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4191 ; - skos:exactMatch HGNC_symbol:MDH2 ; + skos:exactMatch UMLS:C1417088, + UMLS:C4479208, + HGNC:6971, + HGNC_symbol:MDH2 ; biolink:category biolink:Gene . OMIM:154235 a owl:Class ; @@ -46046,12 +47171,13 @@ OMIM:154235 a owl:Class ; PMID:8188277 ; RO:0002525 CHR:9606chr6p24.2 ; RO:0003303 OMIM:614181 ; - oboInOwl:hasDbXref UMLS:C1416988 ; oboInOwl:hasExactSynonym "MAK", "male germ cell-associated kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4117 ; - skos:exactMatch HGNC_symbol:MAK ; + skos:exactMatch UMLS:C1416988, + HGNC:6816, + HGNC_symbol:MAK ; biolink:category biolink:Gene . OMIM:154250 a owl:Class ; @@ -46064,7 +47190,6 @@ OMIM:154250 a owl:Class ; PMID:8100460, PMID:8187880, PMID:9174159 ; - oboInOwl:hasDbXref UMLS:C1417092 ; oboInOwl:hasExactSynonym "ME1", "malate dehydrogenase, nadp(+)-dependent, soluble", "malic enzyme 1", @@ -46072,7 +47197,9 @@ OMIM:154250 a owl:Class ; "malic enzyme, soluble" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4199 ; - skos:exactMatch HGNC_symbol:ME1 ; + skos:exactMatch UMLS:C1417092, + HGNC:6983, + HGNC_symbol:ME1 ; biolink:category biolink:Gene . OMIM:154270 a owl:Class ; @@ -46091,33 +47218,35 @@ OMIM:154270 a owl:Class ; PMID:680703, PMID:752528, PMID:921213 ; - oboInOwl:hasDbXref UMLS:C1417093 ; oboInOwl:hasExactSynonym "ME2", "malic enzyme 2", "malic enzyme, nad(+)-dependent, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4200 ; - skos:exactMatch HGNC_symbol:ME2 ; + skos:exactMatch UMLS:C1417093, + HGNC:6984, + HGNC_symbol:ME2 ; biolink:category biolink:Gene . OMIM:154300 a owl:Class ; rdfs:label "malocclusion due to protuberant upper front teeth" ; IAO:0000142 PMID:20242533 ; - oboInOwl:hasDbXref UMLS:C1835159 ; - oboInOwl:hasExactSynonym "malocclusion due to protuberant upper front teeth" . + oboInOwl:hasExactSynonym "malocclusion due to protuberant upper front teeth" ; + skos:exactMatch UMLS:C1835159 . OMIM:154360 a owl:Class ; rdfs:label "MGAM" ; IAO:0000142 PMID:12547908, PMID:3143729, PMID:9446624 ; - oboInOwl:hasDbXref UMLS:C1417132 ; oboInOwl:hasExactSynonym "MGAM", "maltase-glucoamylase", "mga" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8972 ; - skos:exactMatch HGNC_symbol:MGAM ; + skos:exactMatch UMLS:C1417132, + HGNC:7043, + HGNC_symbol:MGAM ; biolink:category biolink:Gene . OMIM:154365 a owl:Class ; @@ -46127,21 +47256,22 @@ OMIM:154365 a owl:Class ; PMID:2194290, PMID:8500623, PMID:9473509 ; - oboInOwl:hasDbXref UMLS:C1419021 ; oboInOwl:hasExactSynonym "PSMC2", "mammalian suppressor of sgv-1 of yeast", "protease 26s, subunit 7", "proteasome 26s subunit, atpase, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5701 ; - skos:exactMatch HGNC_symbol:PSMC2 ; + skos:exactMatch UMLS:C1419021, + HGNC:9548, + HGNC_symbol:PSMC2 ; biolink:category biolink:Gene . OMIM:154370 a owl:Class ; rdfs:label "mammastatin" ; IAO:0000142 PMID:2662405 ; - oboInOwl:hasDbXref UMLS:C3887696 ; - oboInOwl:hasExactSynonym "mammastatin" . + oboInOwl:hasExactSynonym "mammastatin" ; + skos:exactMatch UMLS:C3887696 . OMIM:154540 a owl:Class ; rdfs:label "M6PR" ; @@ -46152,14 +47282,15 @@ OMIM:154540 a owl:Class ; PMID:2954652, PMID:7592993, PMID:9604938 ; - oboInOwl:hasDbXref UMLS:C1416952 ; oboInOwl:hasExactSynonym "M6PR", "cdmpr", "mannose 6-phosphate receptor, cation-dependent", "small mannose 6-phosphate receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4074 ; - skos:exactMatch HGNC_symbol:M6PR ; + skos:exactMatch UMLS:C1416952, + HGNC:6752, + HGNC_symbol:M6PR ; biolink:category biolink:Gene . OMIM:154545 a owl:Class ; @@ -46200,7 +47331,6 @@ OMIM:154545 a owl:Class ; PMID:9752823 ; RO:0002525 CHR:9606chr10q21.1 ; RO:0003303 OMIM:614372 ; - oboInOwl:hasDbXref UMLS:C1417054 ; oboInOwl:hasExactSynonym "MBL2", "collectin 1", "lectin, mannose-binding, soluble, 2", @@ -46210,7 +47340,9 @@ OMIM:154545 a owl:Class ; "mannose-binding protein, serum" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4153 ; - skos:exactMatch HGNC_symbol:MBL2 ; + skos:exactMatch UMLS:C1417054, + HGNC:6922, + HGNC_symbol:MBL2 ; biolink:category biolink:Gene . OMIM:154550 a owl:Class ; @@ -46230,13 +47362,14 @@ OMIM:154550 a owl:Class ; PMID:9585601 ; RO:0002525 CHR:9606chr15q24.1-q24.2 ; RO:0003303 OMIM:602579 ; - oboInOwl:hasDbXref UMLS:C1417244 ; oboInOwl:hasExactSynonym "MPI", "mannosephosphate isomerase", "phosphomannose isomerase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4351 ; - skos:exactMatch HGNC_symbol:MPI ; + skos:exactMatch UMLS:C1417244, + HGNC:7216, + HGNC_symbol:MPI ; biolink:category biolink:Gene . OMIM:154570 a owl:Class ; @@ -46244,9 +47377,9 @@ OMIM:154570 a owl:Class ; IAO:0000142 PMID:3011646, PMID:6238528, PMID:6270123 ; - oboInOwl:hasDbXref UMLS:C1835134 ; oboInOwl:hasExactSynonym "mannose 6-phosphate receptor recognition defect, lebanese iia", "phosphodiester glycoside deficiency" ; + skos:exactMatch UMLS:C1835134 ; biolink:category biolink:Disease . OMIM:154580 a owl:Class ; @@ -46256,13 +47389,14 @@ OMIM:154580 a owl:Class ; PMID:752528 ; RO:0002525 CHR:9606chr15q24.2 ; RO:0003303 OMIM:619775 ; - oboInOwl:hasDbXref UMLS:C1416998 ; oboInOwl:hasExactSynonym "MAN2C1", "mannosidase, alpha a, cytoplasmic", "mannosidase, alpha, class 2c, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4123 ; - skos:exactMatch HGNC_symbol:MAN2C1 ; + skos:exactMatch UMLS:C1416998, + HGNC:6827, + HGNC_symbol:MAN2C1 ; biolink:category biolink:Gene . OMIM:154582 a owl:Class ; @@ -46272,13 +47406,14 @@ OMIM:154582 a owl:Class ; PMID:1757461, PMID:8524845, PMID:9230311 ; - oboInOwl:hasDbXref UMLS:C1416995 ; oboInOwl:hasExactSynonym "MAN2A1", "mannosidase, alpha, 2", "mannosidase, alpha, class 2a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4124 ; - skos:exactMatch HGNC_symbol:MAN2A1 ; + skos:exactMatch UMLS:C1416995, + HGNC:6824, + HGNC_symbol:MAN2A1 ; biolink:category biolink:Gene . OMIM:154600 a owl:Class ; @@ -46286,10 +47421,10 @@ OMIM:154600 a owl:Class ; IAO:0000142 PMID:16411218, PMID:18132874, PMID:5781039 ; - oboInOwl:hasDbXref UMLS:C0266521 ; oboInOwl:hasExactSynonym "jaw-winking", "marcus gunn phenomenon", - "maxillopalpebral synkinesis" . + "maxillopalpebral synkinesis" ; + skos:exactMatch UMLS:C0266521 . OMIM:154705 a owl:Class ; IAO:0100001 OMIM:610380 ; @@ -46305,8 +47440,8 @@ OMIM:154750 a owl:Class ; PMID:465233, PMID:5800296, PMID:942505 ; - oboInOwl:hasDbXref UMLS:C0268365 ; - oboInOwl:hasExactSynonym "marfanoid hypermobility syndrome" . + oboInOwl:hasExactSynonym "marfanoid hypermobility syndrome" ; + skos:exactMatch UMLS:C0268365 . OMIM:154780 a owl:Class ; rdfs:label "marshall syndrome" ; @@ -46328,10 +47463,10 @@ OMIM:154780 a owl:Class ; PMID:9529347, PMID:953235, PMID:9792885 ; - oboInOwl:hasDbXref UMLS:C0265235, - ORPHA:560 ; oboInOwl:hasExactSynonym "MRSHS", "marshall syndrome" ; + skos:exactMatch UMLS:C0265235, + ORPHA:560 ; biolink:category biolink:Disease . OMIM:154790 a owl:Class ; @@ -46344,14 +47479,15 @@ OMIM:154790 a owl:Class ; PMID:17377533, PMID:7724531, PMID:8290962 ; - oboInOwl:hasDbXref UMLS:C0919445 ; oboInOwl:hasExactSynonym "PI5", "maspin", "protease inhibitor 5", "serpin family b, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5268 ; - skos:exactMatch HGNC_symbol:SERPINB5 ; + skos:exactMatch UMLS:C0919445, + HGNC:8949, + HGNC_symbol:SERPINB5 ; biolink:category biolink:Gene . OMIM:154800 a owl:Class ; @@ -46384,11 +47520,6 @@ OMIM:154800 a owl:Class ; PMID:9029028, PMID:9827716, PMID:9990072 ; - oboInOwl:hasDbXref UMLS:C0023461, - UMLS:C0221013, - UMLS:C1136033, - UMLS:C4749142, - UMLS:C4749143 ; oboInOwl:hasExactSynonym "MASTC", "mast cell leukemia", "mastocytosis with associated hematologic disorder", @@ -46398,14 +47529,19 @@ OMIM:154800 a owl:Class ; "mastocytosis, maculopapular cutaneous", "mastocytosis, systemic", "urticaria pigmentosa" ; + skos:exactMatch UMLS:C0023461, + UMLS:C0221013, + UMLS:C1136033, + UMLS:C4749142, + UMLS:C4749143 ; biolink:category biolink:Disease . OMIM:154850 a owl:Class ; rdfs:label "masticatory muscles, hypertrophy of" ; IAO:0000142 PMID:3612196 ; - oboInOwl:hasDbXref UMLS:C1835093 ; oboInOwl:hasExactSynonym "masseter muscle hypertrophy", - "masticatory muscles, hypertrophy of" . + "masticatory muscles, hypertrophy of" ; + skos:exactMatch UMLS:C1835093 . OMIM:154870 a owl:Class ; rdfs:label "MGP" ; @@ -46421,14 +47557,15 @@ OMIM:154870 a owl:Class ; PMID:9916809 ; RO:0002525 CHR:9606chr12p12.3 ; RO:0003303 OMIM:245150 ; - oboInOwl:hasDbXref UMLS:C1334506 ; oboInOwl:hasExactSynonym "MGP", "gamma-carboxyglutamic acid protein, matrix", "matrix gamma-carboxyglutamic acid", "matrix gla protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4256 ; - skos:exactMatch HGNC_symbol:MGP ; + skos:exactMatch UMLS:C1334506, + HGNC:7060, + HGNC_symbol:MGP ; biolink:category biolink:Gene . OMIM:154950 a owl:Class ; @@ -46444,21 +47581,22 @@ OMIM:154950 a owl:Class ; PMID:8861962 ; RO:0002525 CHR:9606chr14q23.3 ; RO:0003303 OMIM:171300 ; - oboInOwl:hasDbXref UMLS:C0919516 ; oboInOwl:hasExactSynonym "MAX", "max protein", "myc-associated factor 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4149 ; - skos:exactMatch HGNC_symbol:MAX ; + skos:exactMatch UMLS:C0919516, + HGNC:6913, + HGNC_symbol:MAX ; biolink:category biolink:Gene . OMIM:155000 a owl:Class ; rdfs:label "maxillofacial dysostosis" ; IAO:0000142 PMID:13734756, PMID:592352 ; - oboInOwl:hasDbXref UMLS:C1835088 ; oboInOwl:hasExactSynonym "maxillofacial dysostosis" ; + skos:exactMatch UMLS:C1835088 ; biolink:category biolink:Disease . OMIM:155050 a owl:Class ; @@ -46472,9 +47610,9 @@ OMIM:155050 a owl:Class ; PMID:432334, PMID:9327267, PMID:9916809 ; - oboInOwl:hasDbXref UMLS:C0220692 ; oboInOwl:hasExactSynonym "binder syndrome", "maxillonasal dysplasia, binder iia" ; + skos:exactMatch UMLS:C0220692 ; biolink:category biolink:Disease . OMIM:155120 a owl:Class ; @@ -46482,20 +47620,21 @@ OMIM:155120 a owl:Class ; IAO:0000142 PMID:7956356, PMID:8252040, PMID:9693107 ; - oboInOwl:hasDbXref UMLS:C1332015 ; oboInOwl:hasExactSynonym "ADAM11", "a disintegrin and metalloproteinase domain 11", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4185 ; - skos:exactMatch HGNC_symbol:ADAM11 ; + skos:exactMatch UMLS:C1332015, + HGNC:189, + HGNC_symbol:ADAM11 ; biolink:category biolink:Gene . OMIM:155140 a owl:Class ; rdfs:label "meckel diverticulum" ; IAO:0000142 PMID:2531871 ; - oboInOwl:hasDbXref UMLS:C0025037 ; - oboInOwl:hasExactSynonym "meckel diverticulum" . + oboInOwl:hasExactSynonym "meckel diverticulum" ; + skos:exactMatch UMLS:C0025037 . OMIM:155145 a owl:Class ; rdfs:label "cleft, median, of upper 51p with polyps of facial skin and nasal mucosa" ; @@ -46509,24 +47648,24 @@ OMIM:155145 a owl:Class ; PMID:8071979, PMID:839140, PMID:9391896 ; - oboInOwl:hasDbXref UMLS:C1835087 ; oboInOwl:hasExactSynonym "cleft, median, of upper 51p with polyps of facial skin and nasal mucosa", "pai syndrome" ; + skos:exactMatch UMLS:C1835087 ; biolink:category biolink:Disease . OMIM:155150 a owl:Class ; rdfs:label "median-ulnar nerve communications" ; IAO:0000142 PMID:6454405, PMID:7354357 ; - oboInOwl:hasDbXref UMLS:C1835086 ; oboInOwl:hasExactSynonym "martin-gruber median-ulnar anastomosis", - "median-ulnar nerve communications" . + "median-ulnar nerve communications" ; + skos:exactMatch UMLS:C1835086 . OMIM:155200 a owl:Class ; rdfs:label "mediosternal depigmentation line" ; IAO:0000142 PMID:13161903 ; - oboInOwl:hasDbXref UMLS:C1835085 ; - oboInOwl:hasExactSynonym "mediosternal depigmentation line" . + oboInOwl:hasExactSynonym "mediosternal depigmentation line" ; + skos:exactMatch UMLS:C1835085 . OMIM:155240 a owl:Class ; rdfs:label "thyroid carcinoma, familial medullary" ; @@ -46542,11 +47681,11 @@ OMIM:155240 a owl:Class ; PMID:1889128, PMID:2572534, PMID:3697657 ; - oboInOwl:hasDbXref UMLS:C1833921 ; oboInOwl:hasExactSynonym "MTC", "fmtc", "mtc1", "thyroid carcinoma, familial medullary" ; + skos:exactMatch UMLS:C1833921 ; biolink:category biolink:Disease . OMIM:155250 a owl:Class ; @@ -46559,8 +47698,8 @@ OMIM:155350 a owl:Class ; PMID:3359686, PMID:4855950, PMID:7274594 ; - oboInOwl:hasDbXref UMLS:C3805727 ; oboInOwl:hasExactSynonym "megalencephaly, autosomal dominant" ; + skos:exactMatch UMLS:C3805727 ; biolink:category biolink:Disease . OMIM:155500 a owl:Class ; @@ -46569,9 +47708,9 @@ OMIM:155500 a owl:Class ; PMID:4293291, PMID:6035453, PMID:8818455 ; - oboInOwl:hasDbXref UMLS:C0265552 ; oboInOwl:hasExactSynonym "macrodactyly", "megalodactyly" ; + skos:exactMatch UMLS:C0265552 ; biolink:category biolink:Disease . OMIM:155540 a owl:Class ; @@ -46596,13 +47735,14 @@ OMIM:155540 a owl:Class ; PMID:8463333 ; RO:0002525 CHR:9606chr20q13.2 ; RO:0003303 OMIM:602025 ; - oboInOwl:hasDbXref UMLS:C1417063 ; oboInOwl:hasExactSynonym "MC3R", "mc3 receptor", "melanocortin 3 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4159 ; - skos:exactMatch HGNC_symbol:MC3R ; + skos:exactMatch UMLS:C1417063, + HGNC:6931, + HGNC_symbol:MC3R ; biolink:category biolink:Gene . OMIM:155541 a owl:Class ; @@ -46664,16 +47804,17 @@ OMIM:155541 a owl:Class ; PMID:9916804 ; RO:0002525 CHR:9606chr18q21.32 ; RO:0003303 OMIM:618406 ; - oboInOwl:hasDbXref UMLS:C1417064, - UMLS:C5193151, - UMLS:C5193166, - UMLS:C5193167 ; oboInOwl:hasExactSynonym "MC4R", "mcr receptor", "melanocortin 4 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4160 ; - skos:exactMatch HGNC_symbol:MC4R ; + skos:exactMatch UMLS:C1417064, + UMLS:C5193151, + UMLS:C5193166, + UMLS:C5193167, + HGNC:6932, + HGNC_symbol:MC4R ; biolink:category biolink:Gene . OMIM:155550 a owl:Class ; @@ -46691,7 +47832,6 @@ OMIM:155550 a owl:Class ; PMID:8179825, PMID:8185325, PMID:8592076 ; - oboInOwl:hasDbXref UMLS:C1420066 ; oboInOwl:hasExactSynonym "PMEL", "gp100", "me20", @@ -46700,7 +47840,9 @@ OMIM:155550 a owl:Class ; "silver, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6490 ; - skos:exactMatch HGNC_symbol:PMEL ; + skos:exactMatch UMLS:C1420066, + HGNC:10880, + HGNC_symbol:PMEL ; biolink:category biolink:Gene . OMIM:155555 a owl:Class ; @@ -46769,14 +47911,15 @@ OMIM:155555 a owl:Class ; PMID:9665397 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:266300 ; - oboInOwl:hasDbXref UMLS:C1417061 ; oboInOwl:hasExactSynonym "MC1R", "melanocortin 1 receptor", "melanocyte-stimulating hormone receptor", "melanotropin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4157 ; - skos:exactMatch HGNC_symbol:MC1R ; + skos:exactMatch UMLS:C1417061, + HGNC:6929, + HGNC_symbol:MC1R ; biolink:category biolink:Gene . OMIM:155601 a owl:Class ; @@ -46810,10 +47953,10 @@ OMIM:155601 a owl:Class ; PMID:8418665, PMID:8447320, PMID:8651266 ; - oboInOwl:hasDbXref UMLS:C1835044 ; oboInOwl:hasExactSynonym "CMM2", "melanoma, cutaneous malignant, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:155600 ; + skos:exactMatch UMLS:C1835044 ; biolink:category biolink:Disease . OMIM:155700 a owl:Class ; @@ -46822,8 +47965,8 @@ OMIM:155700 a owl:Class ; PMID:18168659, PMID:6638134, PMID:6881247 ; - oboInOwl:hasDbXref UMLS:C1835043 ; - oboInOwl:hasExactSynonym "melanoma, malignant familial intraocular" . + oboInOwl:hasExactSynonym "melanoma, malignant familial intraocular" ; + skos:exactMatch UMLS:C1835043 . OMIM:155720 a owl:Class ; rdfs:label "melanoma, uveal" ; @@ -46886,8 +48029,8 @@ OMIM:155720 a owl:Class ; PMID:8154536, PMID:8371929, PMID:8602775 ; - oboInOwl:hasDbXref UMLS:C0220633 ; oboInOwl:hasExactSynonym "melanoma, uveal" ; + skos:exactMatch UMLS:C0220633 ; biolink:category biolink:Disease . OMIM:155730 a owl:Class ; @@ -46906,7 +48049,6 @@ OMIM:155730 a owl:Class ; PMID:3264403, PMID:8380167, PMID:8574748 ; - oboInOwl:hasDbXref UMLS:C0812445 ; oboInOwl:hasExactSynonym "CXCL1", "chemokine, cxc motif, ligand 1", "gro protein, alpha", @@ -46916,7 +48058,9 @@ OMIM:155730 a owl:Class ; "small inducible cytokine subfamily b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2919 ; - skos:exactMatch HGNC_symbol:CXCL1 ; + skos:exactMatch UMLS:C0812445, + HGNC:4602, + HGNC_symbol:CXCL1 ; biolink:category biolink:Gene . OMIM:155740 a owl:Class ; @@ -46925,7 +48069,6 @@ OMIM:155740 a owl:Class ; PMID:3365686, PMID:7682577, PMID:8661157 ; - oboInOwl:hasDbXref UMLS:C1413233 ; oboInOwl:hasExactSynonym "CD63", "cd63 antigen", "granulophysin", @@ -46933,7 +48076,9 @@ OMIM:155740 a owl:Class ; "melanoma-associated antigen mla1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:967 ; - skos:exactMatch HGNC_symbol:CD63 ; + skos:exactMatch UMLS:C1413233, + HGNC:1692, + HGNC_symbol:CD63 ; biolink:category biolink:Gene . OMIM:155741 a owl:Class ; @@ -46947,14 +48092,15 @@ OMIM:155750 a owl:Class ; PMID:3754536, PMID:6585826, PMID:6843660 ; - oboInOwl:hasDbXref UMLS:C1417130 ; oboInOwl:hasExactSynonym "MELTF", "melanoma-associated antigen p97", "melanotransferrin", "p97 melanoma antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4241 ; - skos:exactMatch HGNC_symbol:MELTF ; + skos:exactMatch UMLS:C1417130, + HGNC:7037, + HGNC_symbol:MELTF ; biolink:category biolink:Gene . OMIM:155755 a owl:Class ; @@ -46971,9 +48117,9 @@ OMIM:155755 a owl:Class ; PMID:8635060, PMID:9259954, PMID:9622062 ; - oboInOwl:hasDbXref UMLS:C1835042 ; oboInOwl:hasExactSynonym "melanoma and neural system tumor syndrome", "melanoma-astrocytoma syndrome" ; + skos:exactMatch UMLS:C1835042 ; biolink:category biolink:Disease . OMIM:155760 a owl:Class ; @@ -47004,7 +48150,6 @@ OMIM:155760 a owl:Class ; PMID:9192671 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:612813 ; - oboInOwl:hasDbXref UMLS:C1412277 ; oboInOwl:hasExactSynonym "ACAN", "agcan", "aggrecan", @@ -47012,15 +48157,17 @@ OMIM:155760 a owl:Class ; "chondroitin sulfate proteoglycan core protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:176 ; - skos:exactMatch HGNC_symbol:ACAN ; + skos:exactMatch UMLS:C1412277, + HGNC:319, + HGNC_symbol:ACAN ; biolink:category biolink:Gene . OMIM:155770 a owl:Class ; rdfs:label "melanoma tumor antigen gp90" ; IAO:0000142 PMID:2453881 ; - oboInOwl:hasDbXref UMLS:C1835040 ; oboInOwl:hasExactSynonym "class 1 unique tumor antigen of melanoma", - "melanoma tumor antigen gp90" . + "melanoma tumor antigen gp90" ; + skos:exactMatch UMLS:C1835040 . OMIM:155800 a owl:Class ; IAO:0100001 OMIM:145250 ; @@ -47038,14 +48185,15 @@ OMIM:155970 a owl:Class ; PMID:2902568, PMID:3032785, PMID:3817906 ; - oboInOwl:hasDbXref UMLS:C1540289 ; oboInOwl:hasExactSynonym "MOX2", "cd200", "membrane glycoprotein mrc ox-2", "ox2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4345 ; - skos:exactMatch HGNC_symbol:CD200 ; + skos:exactMatch UMLS:C1540289, + HGNC:7203, + HGNC_symbol:CD200 ; biolink:category biolink:Gene . OMIM:155975 a owl:Class ; @@ -47056,8 +48204,8 @@ OMIM:155980 a owl:Class ; rdfs:label "membranous cranial ossification, delayed" ; IAO:0000142 PMID:10861662, PMID:1481847 ; - oboInOwl:hasDbXref UMLS:C1835030 ; oboInOwl:hasExactSynonym "membranous cranial ossification, delayed" ; + skos:exactMatch UMLS:C1835030 ; biolink:category biolink:Disease . OMIM:156000 a owl:Class ; @@ -47070,8 +48218,8 @@ OMIM:156000 a owl:Class ; PMID:4013733, PMID:5892598, PMID:7642988 ; - oboInOwl:hasDbXref UMLS:C0025281 ; - oboInOwl:hasExactSynonym "meniere disease" . + oboInOwl:hasExactSynonym "meniere disease" ; + skos:exactMatch UMLS:C0025281 . OMIM:156100 a owl:Class ; rdfs:label "MN1" ; @@ -47086,8 +48234,6 @@ OMIM:156100 a owl:Class ; PMID:7731706 ; RO:0002525 CHR:9606chr22q12.1 ; RO:0003303 OMIM:607174 ; - oboInOwl:hasDbXref UMLS:C1417217, - UMLS:C5394044 ; oboInOwl:hasExactSynonym "MN1", "meningioma chromosome region 1", "mn1 gene", @@ -47095,21 +48241,24 @@ OMIM:156100 a owl:Class ; "mn1/tel fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4330 ; - skos:exactMatch HGNC_symbol:MN1 ; + skos:exactMatch UMLS:C1417217, + UMLS:C5394044, + HGNC:7180, + HGNC_symbol:MN1 ; biolink:category biolink:Gene . OMIM:156190 a owl:Class ; rdfs:label "mental and growth retardation with amblyopia" ; IAO:0000142 PMID:2585460, PMID:6127950 ; - oboInOwl:hasDbXref UMLS:C1835028 ; - oboInOwl:hasExactSynonym "mental and growth retardation with amblyopia" . + oboInOwl:hasExactSynonym "mental and growth retardation with amblyopia" ; + skos:exactMatch UMLS:C1835028 . OMIM:156220 a owl:Class ; rdfs:label "meralgia paraesthetica, familial" ; IAO:0000142 PMID:629666 ; - oboInOwl:hasDbXref UMLS:C1835026 ; - oboInOwl:hasExactSynonym "meralgia paraesthetica, familial" . + oboInOwl:hasExactSynonym "meralgia paraesthetica, familial" ; + skos:exactMatch UMLS:C1835026 . OMIM:156225 a owl:Class ; rdfs:label "LAMA2" ; @@ -47136,7 +48285,6 @@ OMIM:156225 a owl:Class ; PMID:9541105 ; RO:0002525 CHR:9606chr6q22.33 ; RO:0003303 OMIM:618138 ; - oboInOwl:hasDbXref UMLS:C1416776 ; oboInOwl:hasExactSynonym "LAMA2", "laminin 2", "laminin 2, heavy chain", @@ -47145,14 +48293,16 @@ OMIM:156225 a owl:Class ; "merosin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3908 ; - skos:exactMatch HGNC_symbol:LAMA2 ; + skos:exactMatch UMLS:C1416776, + HGNC:6482, + HGNC_symbol:LAMA2 ; biolink:category biolink:Gene . OMIM:156230 a owl:Class ; rdfs:label "mesomelic dwarfism of hypoplastic tibia and radius iia" ; IAO:0000142 PMID:1126050 ; - oboInOwl:hasDbXref UMLS:C1835010 ; oboInOwl:hasExactSynonym "mesomelic dwarfism of hypoplastic tibia and radius iia" ; + skos:exactMatch UMLS:C1835010 ; biolink:category biolink:Disease . OMIM:156240 a owl:Class ; @@ -47174,9 +48324,9 @@ OMIM:156240 a owl:Class ; PMID:7494231, PMID:9751275, PMID:9927061 ; - oboInOwl:hasDbXref UMLS:C0345967 ; oboInOwl:hasExactSynonym "MESOM", "mesothelioma, malignant" ; + skos:exactMatch UMLS:C0345967 ; biolink:category biolink:Disease . OMIM:156250 a owl:Class ; @@ -47188,23 +48338,23 @@ OMIM:156250 a owl:Class ; PMID:5313319, PMID:6602353, PMID:6979336 ; - oboInOwl:hasDbXref UMLS:C0410530 ; oboInOwl:hasExactSynonym "METCDS", "metachondromatosis" ; + skos:exactMatch UMLS:C0410530 ; biolink:category biolink:Disease . OMIM:156300 a owl:Class ; rdfs:label "metachromasia of fibroblasts" ; IAO:0000142 PMID:4101365 ; - oboInOwl:hasDbXref UMLS:C1835008 ; - oboInOwl:hasExactSynonym "metachromasia of fibroblasts" . + oboInOwl:hasExactSynonym "metachromasia of fibroblasts" ; + skos:exactMatch UMLS:C1835008 . OMIM:156310 a owl:Class ; rdfs:label "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a" ; IAO:0000142 PMID:2905384 ; - oboInOwl:hasDbXref UMLS:C1835007, - ORPHA:512 ; - oboInOwl:hasExactSynonym "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a" . + oboInOwl:hasExactSynonym "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a" ; + skos:exactMatch UMLS:C1835007, + ORPHA:512 . OMIM:156340 a owl:Class ; IAO:0100001 OMIM:156360 ; @@ -47215,12 +48365,13 @@ OMIM:156349 a owl:Class ; IAO:0000142 PMID:2286373, PMID:3785191, PMID:6089206 ; - oboInOwl:hasDbXref UMLS:C1417390 ; oboInOwl:hasExactSynonym "MT1B", "metallothionein 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4490 ; - skos:exactMatch HGNC_symbol:MT1B ; + skos:exactMatch UMLS:C1417390, + HGNC:7394, + HGNC_symbol:MT1B ; biolink:category biolink:Gene . OMIM:156350 a owl:Class ; @@ -47240,12 +48391,13 @@ OMIM:156350 a owl:Class ; PMID:8290567, PMID:8640230, PMID:9419380 ; - oboInOwl:hasDbXref UMLS:C1417389 ; oboInOwl:hasExactSynonym "MT1A", "metallothionein 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4489 ; - skos:exactMatch HGNC_symbol:MT1A ; + skos:exactMatch UMLS:C1417389, + HGNC:7393, + HGNC_symbol:MT1A ; biolink:category biolink:Gene . OMIM:156351 a owl:Class ; @@ -47253,12 +48405,13 @@ OMIM:156351 a owl:Class ; IAO:0000142 PMID:2286373, PMID:2581970, PMID:6089206 ; - oboInOwl:hasDbXref UMLS:C1417393 ; oboInOwl:hasExactSynonym "MT1E", "metallothionein 1e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4493 ; - skos:exactMatch HGNC_symbol:MT1E ; + skos:exactMatch UMLS:C1417393, + HGNC:7397, + HGNC_symbol:MT1E ; biolink:category biolink:Gene . OMIM:156352 a owl:Class ; @@ -47266,12 +48419,13 @@ OMIM:156352 a owl:Class ; IAO:0000142 PMID:2286373, PMID:2581970, PMID:6089206 ; - oboInOwl:hasDbXref UMLS:C1417394 ; oboInOwl:hasExactSynonym "MT1F", "metallothionein 1f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4494 ; - skos:exactMatch HGNC_symbol:MT1F ; + skos:exactMatch UMLS:C1417394, + HGNC:7398, + HGNC_symbol:MT1F ; biolink:category biolink:Gene . OMIM:156353 a owl:Class ; @@ -47279,12 +48433,13 @@ OMIM:156353 a owl:Class ; IAO:0000142 PMID:2286373, PMID:3403543, PMID:6089206 ; - oboInOwl:hasDbXref UMLS:C1417395 ; oboInOwl:hasExactSynonym "MT1G", "metallothionein 1g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4495 ; - skos:exactMatch HGNC_symbol:MT1G ; + skos:exactMatch UMLS:C1417395, + HGNC:7399, + HGNC_symbol:MT1G ; biolink:category biolink:Gene . OMIM:156354 a owl:Class ; @@ -47292,63 +48447,68 @@ OMIM:156354 a owl:Class ; IAO:0000142 PMID:2286373, PMID:6089206, PMID:8049263 ; - oboInOwl:hasDbXref UMLS:C1417396 ; oboInOwl:hasExactSynonym "MT1H", "metallothionein 1h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4496 ; - skos:exactMatch HGNC_symbol:MT1H ; + skos:exactMatch UMLS:C1417396, + HGNC:7400, + HGNC_symbol:MT1H ; biolink:category biolink:Gene . OMIM:156355 a owl:Class ; rdfs:label "MT1IP" ; IAO:0000142 PMID:2286373, PMID:6089206 ; - oboInOwl:hasDbXref UMLS:C1835006 ; oboInOwl:hasExactSynonym "MT1IP", "metallothionein 1i, pseudogene", "metallothionein i-i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644314 ; - skos:exactMatch HGNC_symbol:MT1IP ; + skos:exactMatch UMLS:C1835006, + HGNC:7401, + HGNC_symbol:MT1IP ; biolink:category biolink:Gene . OMIM:156356 a owl:Class ; rdfs:label "MT1JP" ; IAO:0000142 PMID:2286373, PMID:6089206 ; - oboInOwl:hasDbXref UMLS:C1826313 ; oboInOwl:hasExactSynonym "MT1JP", "metallothionein 1j", "metallothionein 1j, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4498 ; - skos:exactMatch HGNC_symbol:MT1JP ; + skos:exactMatch UMLS:C1826313, + HGNC:7402, + HGNC_symbol:MT1JP ; biolink:category biolink:Gene . OMIM:156357 a owl:Class ; rdfs:label "MT1K" ; IAO:0000142 PMID:2286373, PMID:6089206 ; - oboInOwl:hasDbXref UMLS:C1826314 ; oboInOwl:hasExactSynonym "MT1K", "metallothionein 1k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4499 ; - skos:exactMatch HGNC_symbol:MT1M ; + skos:exactMatch UMLS:C1826314, + HGNC:14296, + HGNC_symbol:MT1M ; biolink:category biolink:Gene . OMIM:156358 a owl:Class ; rdfs:label "MT1LP" ; IAO:0000142 PMID:2286373, PMID:6089206 ; - oboInOwl:hasDbXref UMLS:C1417400 ; oboInOwl:hasExactSynonym "MT1LP", "metallothionein 1l", "metallothionein 1l, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4500 ; - skos:exactMatch HGNC_symbol:MT1L ; + skos:exactMatch UMLS:C1417400, + HGNC:7404, + HGNC_symbol:MT1L ; biolink:category biolink:Gene . OMIM:156359 a owl:Class ; @@ -47356,13 +48516,14 @@ OMIM:156359 a owl:Class ; IAO:0000142 PMID:2286373, PMID:23251525, PMID:6089206 ; - oboInOwl:hasDbXref UMLS:C1417401 ; oboInOwl:hasExactSynonym "MT1X", "metallothionein 1x", "metallothionein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4501 ; - skos:exactMatch HGNC_symbol:MT1X ; + skos:exactMatch UMLS:C1417401, + HGNC:7405, + HGNC_symbol:MT1X ; biolink:category biolink:Gene . OMIM:156490 a owl:Class ; @@ -47391,7 +48552,6 @@ OMIM:156490 a owl:Class ; PMID:8392752, PMID:8395939, PMID:8810265 ; - oboInOwl:hasDbXref UMLS:C0812204 ; oboInOwl:hasExactSynonym "NME1", "awd, drosophila, homolog of", "gzma-activated dnase", @@ -47406,7 +48566,9 @@ OMIM:156490 a owl:Class ; "nucleoside diphosphate kinase-a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4830 ; - skos:exactMatch HGNC_symbol:NME1 ; + skos:exactMatch UMLS:C0812204, + HGNC:7849, + HGNC_symbol:NME1 ; biolink:category biolink:Gene . OMIM:156491 a owl:Class ; @@ -47421,7 +48583,6 @@ OMIM:156491 a owl:Class ; PMID:7685630, PMID:8381224, PMID:8406509 ; - oboInOwl:hasDbXref UMLS:C1417741 ; oboInOwl:hasExactSynonym "NME2", "metastasis inhibition factor nm23b", "nme/nm23 nucleoside diphosphate kinase 2", @@ -47431,14 +48592,16 @@ OMIM:156491 a owl:Class ; "nucleoside diphosphate kinase-b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4831 ; - skos:exactMatch HGNC_symbol:NME2 ; + skos:exactMatch UMLS:C1417741, + HGNC:7850, + HGNC_symbol:NME2 ; biolink:category biolink:Gene . OMIM:156520 a owl:Class ; rdfs:label "metatarsus varus, iia 1" ; IAO:0000142 PMID:4829424 ; - oboInOwl:hasDbXref UMLS:C1834968 ; oboInOwl:hasExactSynonym "metatarsus varus, iia 1" ; + skos:exactMatch UMLS:C1834968 ; biolink:category biolink:Disease . OMIM:156536 a owl:Class ; @@ -47468,13 +48631,14 @@ OMIM:156540 a owl:Class ; PMID:8781110 ; RO:0002525 CHR:9606chr9p21.3 ; RO:0003303 OMIM:112250 ; - oboInOwl:hasDbXref UMLS:C1417407 ; oboInOwl:hasExactSynonym "MTAP", "mesado phosphorylase", "methylthioadenosine phosphorylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4507 ; - skos:exactMatch HGNC_symbol:MTAP ; + skos:exactMatch UMLS:C1417407, + HGNC:7413, + HGNC_symbol:MTAP ; biolink:category biolink:Gene . OMIM:156550 a owl:Class ; @@ -47496,10 +48660,10 @@ OMIM:156550 a owl:Class ; PMID:8723084, PMID:9066888, PMID:984048 ; - oboInOwl:hasDbXref UMLS:C0265279, - ORPHA:485 ; oboInOwl:hasExactSynonym "kniest dysplasia" ; rdfs:subClassOf OMIMPS:184255 ; + skos:exactMatch UMLS:C0265279, + ORPHA:485 ; biolink:category biolink:Disease . OMIM:156560 a owl:Class ; @@ -47514,7 +48678,6 @@ OMIM:156560 a owl:Class ; PMID:8921912 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:615486 ; - oboInOwl:hasDbXref UMLS:C1417035 ; oboInOwl:hasExactSynonym "MARS1", "mars", "methionine trna ligase", @@ -47523,7 +48686,9 @@ OMIM:156560 a owl:Class ; "mtrns" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4141 ; - skos:exactMatch HGNC_symbol:MARS1 ; + skos:exactMatch UMLS:C1417035, + HGNC:6898, + HGNC_symbol:MARS1 ; biolink:category biolink:Gene . OMIM:156565 a owl:Class ; @@ -47537,7 +48702,6 @@ OMIM:156565 a owl:Class ; PMID:9371804, PMID:9742100, PMID:9790531 ; - oboInOwl:hasDbXref UMLS:C1417239 ; oboInOwl:hasExactSynonym "3-alkyladenine DNA glycosylase", "3-methyladenine DNA glycosylase", "3meade DNA glycosylase", @@ -47547,7 +48711,9 @@ OMIM:156565 a owl:Class ; "n-methylpurine DNA glycosylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4350 ; - skos:exactMatch HGNC_symbol:MPG ; + skos:exactMatch UMLS:C1417239, + HGNC:7211, + HGNC_symbol:MPG ; biolink:category biolink:Gene . OMIM:156569 a owl:Class ; @@ -47564,12 +48730,13 @@ OMIM:156569 a owl:Class ; PMID:18805990, PMID:2188979, PMID:2405387 ; - oboInOwl:hasDbXref UMLS:C1334505 ; oboInOwl:hasExactSynonym "MGMT", "methylguanine-dna methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4255 ; - skos:exactMatch HGNC_symbol:MGMT ; + skos:exactMatch UMLS:C1334505, + HGNC:7059, + HGNC_symbol:MGMT ; biolink:category biolink:Gene . OMIM:156570 a owl:Class ; @@ -47594,14 +48761,15 @@ OMIM:156570 a owl:Class ; PMID:9683607 ; RO:0002525 CHR:9606chr1q43 ; RO:0003303 OMIM:601634 ; - oboInOwl:hasDbXref UMLS:C1417453 ; oboInOwl:hasExactSynonym "5-methyltetrahydrofolate-homocysteine s-methyltransferase", "MTR", "methionine synthase", "tetrahydropteroylglutamate methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4548 ; - skos:exactMatch HGNC_symbol:MTR ; + skos:exactMatch UMLS:C1417453, + HGNC:7468, + HGNC_symbol:MTR ; biolink:category biolink:Gene . OMIM:156575 a owl:Class ; @@ -47622,8 +48790,8 @@ OMIM:156580 a owl:Class ; PMID:7296944, PMID:7506485, PMID:7834899 ; - oboInOwl:hasDbXref UMLS:C0220693 ; oboInOwl:hasExactSynonym "microcephaly, autosomal dominant" ; + skos:exactMatch UMLS:C0220693 ; biolink:category biolink:Disease . OMIM:156590 a owl:Class ; @@ -47642,24 +48810,24 @@ OMIM:156600 a owl:Class ; PMID:7862406, PMID:9545411 ; RO:0002525 CHR:9606chr13q32 ; - oboInOwl:hasDbXref UMLS:C1303009 ; oboInOwl:hasExactSynonym "chromosome 13q32 deletion syndrome", "mcor", "microcoria, congenital", "miosis, congenital" ; + skos:exactMatch UMLS:C1303009 ; biolink:category biolink:Disease . OMIM:156620 a owl:Class ; rdfs:label "microcephaly-deafness syndrome" ; IAO:0000142 PMID:3608216 ; - oboInOwl:hasDbXref UMLS:C0796062 ; - oboInOwl:hasExactSynonym "microcephaly-deafness syndrome" . + oboInOwl:hasExactSynonym "microcephaly-deafness syndrome" ; + skos:exactMatch UMLS:C0796062 . OMIM:156700 a owl:Class ; rdfs:label "microcornea, glaucoma, and absent frontal sinuses" ; IAO:0000142 PMID:5781804 ; - oboInOwl:hasDbXref UMLS:C1834935 ; - oboInOwl:hasExactSynonym "microcornea, glaucoma, and absent frontal sinuses" . + oboInOwl:hasExactSynonym "microcornea, glaucoma, and absent frontal sinuses" ; + skos:exactMatch UMLS:C1834935 . OMIM:156790 a owl:Class ; rdfs:label "MFAP2" ; @@ -47673,14 +48841,15 @@ OMIM:156790 a owl:Class ; PMID:3015971, PMID:7759096, PMID:8262979 ; - oboInOwl:hasDbXref UMLS:C1417127 ; oboInOwl:hasExactSynonym "MFAP2", "magp1", "microfibril-associated glycoprotein", "microfibrillar-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4237 ; - skos:exactMatch HGNC_symbol:MFAP2 ; + skos:exactMatch UMLS:C1417127, + HGNC:7033, + HGNC_symbol:MFAP2 ; biolink:category biolink:Gene . OMIM:156810 a owl:Class ; @@ -47690,17 +48859,17 @@ OMIM:156810 a owl:Class ; PMID:5139246, PMID:7735503, PMID:8502528 ; - oboInOwl:hasDbXref UMLS:C1834929 ; oboInOwl:hasExactSynonym "MLRD", - "microgastria-limb reduction defects association" . + "microgastria-limb reduction defects association" ; + skos:exactMatch UMLS:C1834929 . OMIM:156830 a owl:Class ; rdfs:label "micromelic bone dysplasia with cloverleaf skull" ; IAO:0000142 PMID:2789000, PMID:4073120, PMID:7773297 ; - oboInOwl:hasDbXref UMLS:C1834928 ; - oboInOwl:hasExactSynonym "micromelic bone dysplasia with cloverleaf skull" . + oboInOwl:hasExactSynonym "micromelic bone dysplasia with cloverleaf skull" ; + skos:exactMatch UMLS:C1834928 . OMIM:156845 a owl:Class ; rdfs:label "MITF" ; @@ -47751,27 +48920,28 @@ OMIM:156845 a owl:Class ; PMID:9856573 ; RO:0002525 CHR:9606chr3p13 ; RO:0003303 OMIM:614456 ; - oboInOwl:hasDbXref UMLS:C0391816, - UMLS:C1417172, - UMLS:C1860339, - UMLS:C3152204, - UMLS:C4310625 ; oboInOwl:hasExactSynonym "MITF", "microphthalmia, mouse, homolog of", "microphthalmia-associated transcription factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4286 ; - skos:exactMatch HGNC_symbol:MITF ; + skos:exactMatch UMLS:C0391816, + UMLS:C1417172, + UMLS:C1860339, + UMLS:C3152204, + UMLS:C4310625, + HGNC:7105, + HGNC_symbol:MITF ; biolink:category biolink:Gene . OMIM:156900 a owl:Class ; rdfs:label "microphthalmia, isolated, with corectopia" ; IAO:0000142 PMID:18168116 ; - oboInOwl:hasDbXref UMLS:C1834918 ; oboInOwl:hasExactSynonym "MCOPCR", "microphthalmia and corectopia", "microphthalmia with myopia and corectopia", - "microphthalmia, isolated, with corectopia" . + "microphthalmia, isolated, with corectopia" ; + skos:exactMatch UMLS:C1834918 . OMIM:157100 a owl:Class ; IAO:0100001 OMIM:193220 ; @@ -47792,14 +48962,15 @@ OMIM:157129 a owl:Class ; PMID:8577753 ; RO:0002525 CHR:9606chr5q13.2 ; RO:0003303 OMIM:618918 ; - oboInOwl:hasDbXref UMLS:C1417004, - UMLS:C5394503 ; oboInOwl:hasExactSynonym "MAP1B", "futsch, drosophila, homolog of", "microtubule-associated protein 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4131 ; - skos:exactMatch HGNC_symbol:MAP1B ; + skos:exactMatch UMLS:C1417004, + UMLS:C5394503, + HGNC:6836, + HGNC_symbol:MAP1B ; biolink:category biolink:Gene . OMIM:157130 a owl:Class ; @@ -47812,13 +48983,14 @@ OMIM:157130 a owl:Class ; PMID:7479905, PMID:7854050, PMID:8627364 ; - oboInOwl:hasDbXref UMLS:C1417006 ; oboInOwl:hasExactSynonym "MAP2", "map, dendrite-specific", "microtubule-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4133 ; - skos:exactMatch HGNC_symbol:MAP2 ; + skos:exactMatch UMLS:C1417006, + HGNC:6839, + HGNC_symbol:MAP2 ; biolink:category biolink:Gene . OMIM:157132 a owl:Class ; @@ -47828,12 +49000,13 @@ OMIM:157132 a owl:Class ; PMID:25323976, PMID:7857940, PMID:8995766 ; - oboInOwl:hasDbXref UMLS:C1417017 ; oboInOwl:hasExactSynonym "MAP4", "microtubule-associated protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4134 ; - skos:exactMatch HGNC_symbol:MAP4 ; + skos:exactMatch UMLS:C1417017, + HGNC:6862, + HGNC_symbol:MAP4 ; biolink:category biolink:Gene . OMIM:157145 a owl:Class ; @@ -47852,13 +49025,14 @@ OMIM:157145 a owl:Class ; PMID:8978767 ; RO:0002525 CHR:9606chr10q11.22 ; RO:0003303 OMIM:611928 ; - oboInOwl:hasDbXref UMLS:C1367466 ; oboInOwl:hasExactSynonym "MSMB", "microseminoprotein, beta", "mspb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4477 ; - skos:exactMatch HGNC_symbol:MSMB ; + skos:exactMatch UMLS:C1367466, + HGNC:7372, + HGNC_symbol:MSMB ; biolink:category biolink:Gene . OMIM:157147 a owl:Class ; @@ -47884,27 +49058,28 @@ OMIM:157147 a owl:Class ; PMID:9467817 ; RO:0002525 CHR:9606chr4q23 ; RO:0003303 OMIM:605552 ; - oboInOwl:hasDbXref UMLS:C1826328 ; oboInOwl:hasExactSynonym "MTTP", "microsomal triglyceride transfer protein", "mtp", "mtp, large subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4547 ; - skos:exactMatch HGNC_symbol:MTTP ; + skos:exactMatch UMLS:C1826328, + HGNC:7467, + HGNC_symbol:MTTP ; biolink:category biolink:Gene . OMIM:157150 a owl:Class ; rdfs:label "microspherophakia with hernia" ; IAO:0000142 PMID:5087595 ; - oboInOwl:hasDbXref UMLS:C1834881 ; - oboInOwl:hasExactSynonym "microspherophakia with hernia" . + oboInOwl:hasExactSynonym "microspherophakia with hernia" ; + skos:exactMatch UMLS:C1834881 . OMIM:157151 a owl:Class ; rdfs:label "microspherophakia-metaphyseal dysplasia" ; IAO:0000142 PMID:2395168 ; - oboInOwl:hasDbXref UMLS:C1834880 ; - oboInOwl:hasExactSynonym "microspherophakia-metaphyseal dysplasia" . + oboInOwl:hasExactSynonym "microspherophakia-metaphyseal dysplasia" ; + skos:exactMatch UMLS:C1834880 . OMIM:157160 a owl:Class ; IAO:0100001 OMIM:157140 ; @@ -47931,10 +49106,10 @@ OMIM:157170 a owl:Class ; PMID:8824878, PMID:891015, PMID:9605287 ; - oboInOwl:hasDbXref UMLS:C1834877 ; oboInOwl:hasExactSynonym "HPE2", "holoprosencephaly 2" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C1834877 ; biolink:category biolink:Disease . OMIM:157200 a owl:Class ; @@ -47943,18 +49118,18 @@ OMIM:157200 a owl:Class ; PMID:14496311, PMID:18144480, PMID:21122054 ; - oboInOwl:hasDbXref UMLS:C1834876 ; oboInOwl:hasExactSynonym "middigital hair", - "midphalangeal hair" . + "midphalangeal hair" ; + skos:exactMatch UMLS:C1834876 . OMIM:157400 a owl:Class ; rdfs:label "milia, multiple eruptive" ; IAO:0000142 PMID:13920696, PMID:4828151, PMID:9270547 ; - oboInOwl:hasDbXref UMLS:C0343079 ; oboInOwl:hasExactSynonym "MEM", "milia, multiple eruptive" ; + skos:exactMatch UMLS:C0343079 ; biolink:category biolink:Disease . OMIM:157500 a owl:Class ; @@ -47969,10 +49144,10 @@ OMIM:157570 a owl:Class ; rdfs:label "minisatellite 33.15" ; IAO:0000142 PMID:2793185, PMID:3856104 ; - oboInOwl:hasDbXref UMLS:C1834871 ; oboInOwl:hasExactSynonym "d7s437", "minisatellite 33.15", - "ms3315" . + "ms3315" ; + skos:exactMatch UMLS:C1834871 . OMIM:157650 a owl:Class ; IAO:0100001 OMIM:500002 ; @@ -47991,13 +49166,14 @@ OMIM:157655 a owl:Class ; PMID:9878551 ; RO:0002525 CHR:9606chr2q33.3 ; RO:0003303 OMIM:618226 ; - oboInOwl:hasDbXref UMLS:C1417644 ; oboInOwl:hasExactSynonym "NDUFS1", "complex i, mitochondrial respiratory chain, 75-kd subunit", "nadh-ubiquinone oxidoreductase fe-s protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4719 ; - skos:exactMatch HGNC_symbol:NDUFS1 ; + skos:exactMatch UMLS:C1417644, + HGNC:7707, + HGNC_symbol:NDUFS1 ; biolink:category biolink:Gene . OMIM:157660 a owl:Class ; @@ -48029,7 +49205,6 @@ OMIM:157660 a owl:Class ; PMID:9156319 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:250460 ; - oboInOwl:hasDbXref UMLS:C1419396 ; oboInOwl:hasExactSynonym "RMRP", "lncrna rmrp", "long noncoding RNA rmrp", @@ -48037,7 +49212,9 @@ OMIM:157660 a owl:Class ; "rmrpr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6023 ; - skos:exactMatch HGNC_symbol:RMRP ; + skos:exactMatch UMLS:C1419396, + HGNC:10031, + HGNC_symbol:RMRP ; biolink:category biolink:Gene . OMIM:157670 a owl:Class ; @@ -48056,13 +49233,14 @@ OMIM:157680 a owl:Class ; PMID:2195549, PMID:8432534, PMID:8438156 ; - oboInOwl:hasDbXref UMLS:C1413259 ; oboInOwl:hasExactSynonym "CDC25C", "cell division cycle 25c", "mitosis inducer cdc25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:995 ; - skos:exactMatch HGNC_symbol:CDC25C ; + skos:exactMatch UMLS:C1413259, + HGNC:1727, + HGNC_symbol:CDC25C ; biolink:category biolink:Gene . OMIM:157800 a owl:Class ; @@ -48070,11 +49248,11 @@ OMIM:157800 a owl:Class ; IAO:0000142 PMID:20186786, PMID:27426734, PMID:5901343 ; - oboInOwl:hasDbXref UMLS:C2931461, - ORPHA:3238 ; oboInOwl:hasExactSynonym "CSCF", "cardiospondylocarpofacial syndrome", "mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones" ; + skos:exactMatch UMLS:C2931461, + ORPHA:3238 ; biolink:category biolink:Disease . OMIM:157860 a owl:Class ; @@ -48098,25 +49276,26 @@ OMIM:157950 a owl:Class ; PMID:4006275, PMID:639339, PMID:6943937 ; - oboInOwl:hasDbXref UMLS:C0155930 ; oboInOwl:hasExactSynonym "ankylosis of teeth", "dental ankylosis", "molar 1 reinclusion", "permanent molars, secondary retention of" ; + skos:exactMatch UMLS:C0155930 ; biolink:category biolink:Disease . OMIM:157970 a owl:Class ; rdfs:label "PSMD7" ; IAO:0000142 PMID:1837787, PMID:2209467 ; - oboInOwl:hasDbXref UMLS:C1419038 ; oboInOwl:hasExactSynonym "PSMD7", "moloney leukemia virus 34 proviral integration site gene, mouse, homolog of", "proteasome 26s subunit, non-atpase, 7", "rpn8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5713 ; - skos:exactMatch HGNC_symbol:PSMD7 ; + skos:exactMatch UMLS:C1419038, + HGNC:9565, + HGNC_symbol:PSMD7 ; biolink:category biolink:Gene . OMIM:157975 a owl:Class ; @@ -48129,9 +49308,9 @@ OMIM:157980 a owl:Class ; PMID:19048502, PMID:19996736, PMID:8322820 ; - oboInOwl:hasDbXref UMLS:C1834759 ; oboInOwl:hasExactSynonym "macrosomia, obesity, macrocephaly, and ocular abnormalities", - "momo syndrome" . + "momo syndrome" ; + skos:exactMatch UMLS:C1834759 . OMIM:158020 a owl:Class ; IAO:0100001 OMIM:600182 ; @@ -48140,15 +49319,15 @@ OMIM:158020 a owl:Class ; OMIM:158030 a owl:Class ; rdfs:label "antigen defined by monoclonal antibody aj9" ; IAO:0000142 PMID:6585973 ; - oboInOwl:hasDbXref UMLS:C1834757 ; oboInOwl:hasExactSynonym "antigen defined by monoclonal antibody aj9", - "msk1" . + "msk1" ; + skos:exactMatch UMLS:C1834757 . OMIM:158040 a owl:Class ; rdfs:label "antigen defined by monoclonal antibody t87" ; - oboInOwl:hasDbXref UMLS:C1834756 ; oboInOwl:hasExactSynonym "antigen defined by monoclonal antibody t87", - "msk2" . + "msk2" ; + skos:exactMatch UMLS:C1834756 . OMIM:158070 a owl:Class ; rdfs:label "SLC3A2" ; @@ -48170,7 +49349,6 @@ OMIM:158070 a owl:Class ; PMID:7204970, PMID:8938448, PMID:9751058 ; - oboInOwl:hasDbXref UMLS:C1420192 ; oboInOwl:hasExactSynonym "4f2 heavy chain", "SLC3A2", "antigen defined by monoclonal antibody 4f2, heavy chain", @@ -48180,13 +49358,15 @@ OMIM:158070 a owl:Class ; "solute carrier family 3 (activator of dibasic and neutral amino acid transport), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6520 ; - skos:exactMatch HGNC_symbol:SLC3A2 ; + skos:exactMatch UMLS:C1420192, + HGNC:11026, + HGNC_symbol:SLC3A2 ; biolink:category biolink:Gene . OMIM:158100 a owl:Class ; rdfs:label "monophalangy of great toe" ; - oboInOwl:hasDbXref UMLS:C1834753 ; - oboInOwl:hasExactSynonym "monophalangy of great toe" . + oboInOwl:hasExactSynonym "monophalangy of great toe" ; + skos:exactMatch UMLS:C1834753 . OMIM:158106 a owl:Class ; rdfs:label "CCL7" ; @@ -48196,14 +49376,15 @@ OMIM:158106 a owl:Class ; PMID:1388654, PMID:14571188, PMID:7916328 ; - oboInOwl:hasDbXref UMLS:C1332692 ; oboInOwl:hasExactSynonym "CCL7", "chemokine, cc motif, ligand 7", "monocyte chemotactic protein 3", "small inducible cytokine a7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6354 ; - skos:exactMatch HGNC_symbol:CCL7 ; + skos:exactMatch UMLS:C1332692, + HGNC:10634, + HGNC_symbol:CCL7 ; biolink:category biolink:Gene . OMIM:158120 a owl:Class ; @@ -48233,13 +49414,14 @@ OMIM:158120 a owl:Class ; PMID:8798531, PMID:9548247, PMID:9548256 ; - oboInOwl:hasDbXref UMLS:C1367477 ; oboInOwl:hasExactSynonym "CD14", "monocyte differentiation antigen cd14", "myeloid cell-specific leucine-rich glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:929 ; - skos:exactMatch HGNC_symbol:CD14 ; + skos:exactMatch UMLS:C1367477, + HGNC:1628, + HGNC_symbol:CD14 ; biolink:category biolink:Gene . OMIM:158130 a owl:Class ; @@ -48263,10 +49445,10 @@ OMIM:158170 a owl:Class ; PMID:6985017, PMID:8172257 ; RO:0002525 CHR:9606chr9p ; - oboInOwl:hasDbXref UMLS:C0795830, - ORPHA:261112 ; oboInOwl:hasExactSynonym "chromosome 9p deletion syndrome", "monosomy 9p syndrome" ; + skos:exactMatch UMLS:C0795830, + ORPHA:261112 ; biolink:category biolink:Disease . OMIM:158250 a owl:Class ; @@ -48286,10 +49468,10 @@ OMIM:158250 a owl:Class ; PMID:6642508, PMID:7460385, PMID:797314 ; - oboInOwl:hasDbXref UMLS:C1834741 ; oboInOwl:hasExactSynonym "mixoploidy, familial", "mosaicism, chromosomal", - "nondisjunction" . + "nondisjunction" ; + skos:exactMatch UMLS:C1834741 . OMIM:158270 a owl:Class ; rdfs:label "MLN" ; @@ -48297,19 +49479,20 @@ OMIM:158270 a owl:Class ; PMID:2574660, PMID:3666144, PMID:7989042 ; - oboInOwl:hasDbXref UMLS:C1417190 ; oboInOwl:hasExactSynonym "MLN", "motilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4295 ; - skos:exactMatch HGNC_symbol:MLN ; + skos:exactMatch UMLS:C1417190, + HGNC:7141, + HGNC_symbol:MLN ; biolink:category biolink:Gene . OMIM:158280 a owl:Class ; rdfs:label "motion sickness" ; IAO:0000142 PMID:301659 ; - oboInOwl:hasDbXref UMLS:C0026603 ; - oboInOwl:hasExactSynonym "motion sickness" . + oboInOwl:hasExactSynonym "motion sickness" ; + skos:exactMatch UMLS:C0026603 . OMIM:158343 a owl:Class ; rdfs:label "ABCC1" ; @@ -48330,22 +49513,23 @@ OMIM:158343 a owl:Class ; PMID:9344662 ; RO:0002525 CHR:9606chr16p13.11 ; RO:0003303 OMIM:618915 ; - oboInOwl:hasDbXref UMLS:C0919458, - UMLS:C5394499 ; oboInOwl:hasExactSynonym "ABCC1", "atp-binding cassette, subfamily c, member 1", "multidrug resistance-associated protein", "multidrug resistance-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4363 ; - skos:exactMatch HGNC_symbol:ABCC1 ; + skos:exactMatch UMLS:C0919458, + UMLS:C5394499, + HGNC:51, + HGNC_symbol:ABCC1 ; biolink:category biolink:Gene . OMIM:158345 a owl:Class ; rdfs:label "multiple exostoses with spastic tetraparesis" ; IAO:0000142 PMID:1640431 ; - oboInOwl:hasDbXref UMLS:C1834724 ; - oboInOwl:hasExactSynonym "multiple exostoses with spastic tetraparesis" . + oboInOwl:hasExactSynonym "multiple exostoses with spastic tetraparesis" ; + skos:exactMatch UMLS:C1834724 . OMIM:158370 a owl:Class ; rdfs:label "MUC2" ; @@ -48363,12 +49547,13 @@ OMIM:158370 a owl:Class ; PMID:7864825, PMID:8975711, PMID:9722984 ; - oboInOwl:hasDbXref UMLS:C1417494 ; oboInOwl:hasExactSynonym "MUC2", "mucin 2, intestinal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4583 ; - skos:exactMatch HGNC_symbol:MUC2 ; + skos:exactMatch UMLS:C1417494, + HGNC:7512, + HGNC_symbol:MUC2 ; biolink:category biolink:Gene . OMIM:158371 a owl:Class ; @@ -48380,13 +49565,14 @@ OMIM:158371 a owl:Class ; PMID:23316049, PMID:2393399, PMID:7778880 ; - oboInOwl:hasDbXref UMLS:C1417495 ; oboInOwl:hasExactSynonym "MUC3A", "mucin 3, intestinal", "mucin 3a, intestinal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4584 ; - skos:exactMatch HGNC_symbol:MUC3A ; + skos:exactMatch UMLS:C1417495, + HGNC:7513, + HGNC_symbol:MUC3A ; biolink:category biolink:Gene . OMIM:158372 a owl:Class ; @@ -48394,12 +49580,13 @@ OMIM:158372 a owl:Class ; IAO:0000142 PMID:1351710, PMID:1673336, PMID:17058067 ; - oboInOwl:hasDbXref UMLS:C1417496 ; oboInOwl:hasExactSynonym "MUC4", "mucin 4, tracheobronchial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4585 ; - skos:exactMatch HGNC_symbol:MUC4 ; + skos:exactMatch UMLS:C1417496, + HGNC:7514, + HGNC_symbol:MUC4 ; biolink:category biolink:Gene . OMIM:158373 a owl:Class ; @@ -48414,14 +49601,15 @@ OMIM:158373 a owl:Class ; PMID:7826332, PMID:7864825, PMID:9536947 ; - oboInOwl:hasDbXref UMLS:C1417497 ; oboInOwl:hasExactSynonym "MUC5AC", "muc5", "mucin 5, subtypes a and c, tracheobronchial", "mucin 5, tracheobronchial/gastric" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4586 ; - skos:exactMatch HGNC_symbol:MUC5AC ; + skos:exactMatch UMLS:C1417497, + HGNC:7515, + HGNC_symbol:MUC5AC ; biolink:category biolink:Gene . OMIM:158374 a owl:Class ; @@ -48431,12 +49619,13 @@ OMIM:158374 a owl:Class ; PMID:20506113, PMID:7680650, PMID:9536947 ; - oboInOwl:hasDbXref UMLS:C1417499 ; oboInOwl:hasExactSynonym "MUC6", "mucin 6, gastric" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4588 ; - skos:exactMatch HGNC_symbol:MUC6 ; + skos:exactMatch UMLS:C1417499, + HGNC:7517, + HGNC_symbol:MUC6 ; biolink:category biolink:Gene . OMIM:158375 a owl:Class ; @@ -48447,13 +49636,14 @@ OMIM:158375 a owl:Class ; PMID:8838308 ; RO:0002525 CHR:9606chr4q13.3 ; RO:0003303 OMIM:600807 ; - oboInOwl:hasDbXref UMLS:C1417500 ; oboInOwl:hasExactSynonym "MUC7", "mucin 7, salivary", "mucin, salivary, low molecular weight" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4589 ; - skos:exactMatch HGNC_symbol:MUC7 ; + skos:exactMatch UMLS:C1417500, + HGNC:7518, + HGNC_symbol:MUC7 ; biolink:category biolink:Gene . OMIM:158378 a owl:Class ; @@ -48474,7 +49664,6 @@ OMIM:158378 a owl:Class ; PMID:8302848 ; RO:0002525 CHR:9606chr8p11.21 ; RO:0003303 OMIM:213600 ; - oboInOwl:hasDbXref UMLS:C1420126 ; oboInOwl:hasExactSynonym "SLC20A2", "gibbon ape leukemia retrovirus receptor 2", "murine leukemia virus, amphotropic, receptor for", @@ -48483,7 +49672,9 @@ OMIM:158378 a owl:Class ; "solute carrier family 20 (phosphate transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6575 ; - skos:exactMatch HGNC_symbol:SLC20A2 ; + skos:exactMatch UMLS:C1420126, + HGNC:10947, + HGNC_symbol:SLC20A2 ; biolink:category biolink:Gene . OMIM:158380 a owl:Class ; @@ -48491,7 +49682,6 @@ OMIM:158380 a owl:Class ; IAO:0000142 PMID:1899288, PMID:2117565, PMID:2117566 ; - oboInOwl:hasDbXref UMLS:C1414480 ; oboInOwl:hasExactSynonym "EVI2A", "ecotropic viral integration site 2a", "evda", @@ -48499,42 +49689,45 @@ OMIM:158380 a owl:Class ; "murine myeloid leukemia-associated gene evi2a, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2123 ; - skos:exactMatch HGNC_symbol:EVI2A ; + skos:exactMatch UMLS:C1414480, + HGNC:3499, + HGNC_symbol:EVI2A ; biolink:category biolink:Gene . OMIM:158381 a owl:Class ; rdfs:label "EVI2B" ; IAO:0000142 PMID:1899288, PMID:1903357 ; - oboInOwl:hasDbXref UMLS:C1333363 ; oboInOwl:hasExactSynonym "EVI2B", "ecotropic viral integration site 2b", "evdb", "murine myeloid leukemia-associated gene evi2b, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2124 ; - skos:exactMatch HGNC_symbol:EVI2B ; + skos:exactMatch UMLS:C1333363, + HGNC:3500, + HGNC_symbol:EVI2B ; biolink:category biolink:Gene . OMIM:158400 a owl:Class ; rdfs:label "muscle cramps, familial" ; IAO:0000142 PMID:2357164 ; - oboInOwl:hasDbXref UMLS:C1834708 ; oboInOwl:hasExactSynonym "muscle cramps, familial" ; + skos:exactMatch UMLS:C1834708 ; biolink:category biolink:Disease . OMIM:158500 a owl:Class ; rdfs:label "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" ; IAO:0000142 PMID:5748751 ; - oboInOwl:hasDbXref UMLS:C0342281 ; oboInOwl:hasExactSynonym "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" ; + skos:exactMatch UMLS:C0342281 ; biolink:category biolink:Disease . OMIM:158650 a owl:Class ; rdfs:label "muscular atrophy, malignant neurogenic" ; IAO:0000142 PMID:5152133 ; - oboInOwl:hasDbXref UMLS:C1834689 ; - oboInOwl:hasExactSynonym "muscular atrophy, malignant neurogenic" . + oboInOwl:hasExactSynonym "muscular atrophy, malignant neurogenic" ; + skos:exactMatch UMLS:C1834689 . OMIM:158700 a owl:Class ; IAO:0100001 OMIM:105400 ; @@ -48542,8 +49735,8 @@ OMIM:158700 a owl:Class ; OMIM:158800 a owl:Class ; rdfs:label "muscular dystrophy, barnes iia" ; - oboInOwl:hasDbXref UMLS:C1834688 ; - oboInOwl:hasExactSynonym "muscular dystrophy, barnes iia" . + oboInOwl:hasExactSynonym "muscular dystrophy, barnes iia" ; + skos:exactMatch UMLS:C1834688 . OMIM:158810 a owl:Class ; rdfs:label "bethlem myopathy 1" ; @@ -48572,7 +49765,6 @@ OMIM:158810 a owl:Class ; PMID:8817344, PMID:963533, PMID:9921869 ; - oboInOwl:hasDbXref UMLS:C1834674 ; oboInOwl:hasExactSynonym "BTHLM1", "bethlem myopathy", "bethlem myopathy 1", @@ -48581,6 +49773,7 @@ OMIM:158810 a owl:Class ; "myopathy, benign congenital, with contractures" ; rdfs:subClassOf OMIMPS:158810, OMIMPS:603511 ; + skos:exactMatch UMLS:C1834674 ; biolink:category biolink:Disease . OMIM:158900 a owl:Class ; @@ -48697,8 +49890,6 @@ OMIM:158900 a owl:Class ; PMID:9733041, PMID:9810558 ; RO:0002525 CHR:9606chr4q35 ; - oboInOwl:hasDbXref UMLS:C0238288, - UMLS:C1834673 ; oboInOwl:hasExactSynonym "FSHD1", "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles", "facioscapulohumeral muscular dystrophy", @@ -48708,21 +49899,23 @@ OMIM:158900 a owl:Class ; "muscular dystrophy, facioscapulohumeral, iia 1", "muscular dystrophy, facioscapulohumeral, iia 1a" ; rdfs:subClassOf OMIMPS:158900 ; + skos:exactMatch UMLS:C0238288, + UMLS:C1834673 ; biolink:category biolink:Disease . OMIM:159050 a owl:Class ; rdfs:label "muscular dystrophy, pseudohypertrophic, with internalized capillaries" ; IAO:0000142 PMID:7436814 ; - oboInOwl:hasDbXref UMLS:C1834652 ; oboInOwl:hasExactSynonym "muscular dystrophy, pseudohypertrophic, with internalized capillaries" ; + skos:exactMatch UMLS:C1834652 ; biolink:category biolink:Disease . OMIM:159100 a owl:Class ; rdfs:label "muscular hypoplasia, congenital universal, of krabbe" ; IAO:0000142 PMID:13327685, PMID:507050 ; - oboInOwl:hasDbXref UMLS:C1834651 ; - oboInOwl:hasExactSynonym "muscular hypoplasia, congenital universal, of krabbe" . + oboInOwl:hasExactSynonym "muscular hypoplasia, congenital universal, of krabbe" ; + skos:exactMatch UMLS:C1834651 . OMIM:159300 a owl:Class ; rdfs:label "musical perfect pitch" ; @@ -48740,9 +49933,9 @@ OMIM:159300 a owl:Class ; PMID:9463312, PMID:9463341, PMID:9501235 ; - oboInOwl:hasDbXref UMLS:C1834650 ; oboInOwl:hasExactSynonym "absolute pitch", "musical perfect pitch" ; + skos:exactMatch UMLS:C1834650 ; biolink:category biolink:Disease . OMIM:159350 a owl:Class ; @@ -48753,13 +49946,14 @@ OMIM:159350 a owl:Class ; PMID:1848370 ; RO:0002525 CHR:9606chr5q22.2 ; RO:0003303 OMIM:114500 ; - oboInOwl:hasDbXref UMLS:C0162804 ; oboInOwl:hasExactSynonym "MCC", "mcc regulator of wnt signaling pathway", "mutated 1n colorectal cancers" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4163 ; - skos:exactMatch HGNC_symbol:MCC ; + skos:exactMatch UMLS:C0162804, + HGNC:6935, + HGNC_symbol:MCC ; biolink:category biolink:Gene . OMIM:159400 a owl:Class ; @@ -48767,23 +49961,24 @@ OMIM:159400 a owl:Class ; IAO:0000142 PMID:12467753, PMID:1603341, PMID:7878325 ; - oboInOwl:hasDbXref UMLS:C1834635 ; oboInOwl:hasExactSynonym "myasthenia gravis, limb-girdle", - "myasthenia, limb-girdle, autoimmune" . + "myasthenia, limb-girdle, autoimmune" ; + skos:exactMatch UMLS:C1834635 . OMIM:159405 a owl:Class ; rdfs:label "MYBL1" ; IAO:0000142 PMID:2065336, PMID:3060855, PMID:7821437 ; - oboInOwl:hasDbXref UMLS:C0812292 ; oboInOwl:hasExactSynonym "MYBL1", "myb protooncogene like 1", "myb-related gene amyb", "v-myb avian myeloblastosis viral oncogene homolog-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4603 ; - skos:exactMatch HGNC_symbol:MYBL1 ; + skos:exactMatch UMLS:C0812292, + HGNC:7547, + HGNC_symbol:MYBL1 ; biolink:category biolink:Gene . OMIM:159410 a owl:Class ; @@ -48792,14 +49987,14 @@ OMIM:159410 a owl:Class ; PMID:4232839, PMID:5104845, PMID:908166 ; - oboInOwl:hasDbXref UMLS:C1834634 ; - oboInOwl:hasExactSynonym "mydriatic response to pharmacologic agents" . + oboInOwl:hasExactSynonym "mydriatic response to pharmacologic agents" ; + skos:exactMatch UMLS:C1834634 . OMIM:159420 a owl:Class ; rdfs:label "mydriasis, congenital" ; IAO:0000142 PMID:944537 ; - oboInOwl:hasDbXref UMLS:C1303010 ; - oboInOwl:hasExactSynonym "mydriasis, congenital" . + oboInOwl:hasExactSynonym "mydriasis, congenital" ; + skos:exactMatch UMLS:C1303010 . OMIM:159430 a owl:Class ; rdfs:label "MBP" ; @@ -48820,7 +50015,6 @@ OMIM:159430 a owl:Class ; PMID:4598923, PMID:5096093, PMID:6194889 ; - oboInOwl:hasDbXref UMLS:C1417057 ; oboInOwl:hasExactSynonym "MBP", "hemopoietic mbp", "myelin a1 protein, basic", @@ -48828,7 +50022,9 @@ OMIM:159430 a owl:Class ; "myelin membrane encephalitogenic protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4155 ; - skos:exactMatch HGNC_symbol:MBP ; + skos:exactMatch UMLS:C1417057, + HGNC:6925, + HGNC_symbol:MBP ; biolink:category biolink:Gene . OMIM:159440 a owl:Class ; @@ -48899,14 +50095,15 @@ OMIM:159440 a owl:Class ; PMID:9888385 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:180800 ; - oboInOwl:hasDbXref UMLS:C1417248 ; oboInOwl:hasExactSynonym "MPZ", "myelin glycoprotein p-zero", "myelin protein zero", "myelin protein, peripheral" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4359 ; - skos:exactMatch HGNC_symbol:MPZ ; + skos:exactMatch UMLS:C1417248, + HGNC:7225, + HGNC_symbol:MPZ ; biolink:category biolink:Gene . OMIM:159455 a owl:Class ; @@ -48929,13 +50126,14 @@ OMIM:159460 a owl:Class ; PMID:8432525 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:616680 ; - oboInOwl:hasDbXref UMLS:C1416969 ; oboInOwl:hasExactSynonym "MAG", "myelin-associated glycoprotein", "sialic acid-binding immunoglobulin-like lectin 4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4099 ; - skos:exactMatch HGNC_symbol:MAG ; + skos:exactMatch UMLS:C1416969, + HGNC:6783, + HGNC_symbol:MAG ; biolink:category biolink:Gene . OMIM:159465 a owl:Class ; @@ -48948,18 +50146,19 @@ OMIM:159465 a owl:Class ; PMID:8666381 ; RO:0002525 CHR:9606chr6p22.1 ; RO:0003303 OMIM:614250 ; - oboInOwl:hasDbXref UMLS:C1417228 ; oboInOwl:hasExactSynonym "MOG", "myelin-oligodendrocyte glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4340 ; - skos:exactMatch HGNC_symbol:MOG ; + skos:exactMatch UMLS:C1417228, + HGNC:7197, + HGNC_symbol:MOG ; biolink:category biolink:Gene . OMIM:159500 a owl:Class ; rdfs:label "myelinated optic nerve fibers" ; - oboInOwl:hasDbXref UMLS:C1834600 ; - oboInOwl:hasExactSynonym "myelinated optic nerve fibers" . + oboInOwl:hasExactSynonym "myelinated optic nerve fibers" ; + skos:exactMatch UMLS:C1834600 . OMIM:159530 a owl:Class ; rdfs:label "MPL" ; @@ -48985,12 +50184,6 @@ OMIM:159530 a owl:Class ; PMID:9475764 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:604498 ; - oboInOwl:hasDbXref UMLS:C0812295, - UMLS:C1327915, - UMLS:C3275998, - UMLS:C3277190, - UMLS:C4016267, - UMLS:C4016268 ; oboInOwl:hasExactSynonym "MPL", "mpl protooncogene, thrombopoietin receptor", "myeloproliferative leukemia virus oncogene", @@ -48998,7 +50191,14 @@ OMIM:159530 a owl:Class ; "thrombopoietin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4352 ; - skos:exactMatch HGNC_symbol:MPL ; + skos:exactMatch UMLS:C0812295, + UMLS:C1327915, + UMLS:C3275998, + UMLS:C3277190, + UMLS:C4016267, + UMLS:C4016268, + HGNC:7217, + HGNC_symbol:MPL ; biolink:category biolink:Gene . OMIM:159540 a owl:Class ; @@ -49022,14 +50222,15 @@ OMIM:159540 a owl:Class ; PMID:8058719, PMID:8401507, PMID:8404048 ; - oboInOwl:hasDbXref UMLS:C1366463 ; oboInOwl:hasExactSynonym "LIF", "cholinergic differentiation factor", "d-factor", "leukemia-inhibitory factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3976 ; - skos:exactMatch HGNC_symbol:LIF ; + skos:exactMatch UMLS:C1366463, + HGNC:6596, + HGNC_symbol:LIF ; biolink:category biolink:Gene . OMIM:159550 a owl:Class ; @@ -49040,11 +50241,11 @@ OMIM:159550 a owl:Class ; PMID:28202457, PMID:283689, PMID:6947857 ; - oboInOwl:hasDbXref UMLS:C1327919, - ORPHA:2585 ; oboInOwl:hasExactSynonym "ATXPC", "ataxia-pancytopenia syndrome", "myelocerebellar disorder" ; + skos:exactMatch UMLS:C1327919, + ORPHA:2585 ; biolink:category biolink:Disease . OMIM:159552 a owl:Class ; @@ -49063,27 +50264,29 @@ OMIM:159552 a owl:Class ; PMID:32322059, PMID:7682708, PMID:7835896 ; - oboInOwl:hasDbXref UMLS:C1366587, - UMLS:C1834590 ; oboInOwl:hasExactSynonym "MCL1", "myeloid cell leukemia 1, long isoform", "myeloid cell leukemia 1, short isoform", "myeloid cell leukemia sequence 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4170 ; - skos:exactMatch HGNC_symbol:MCL1 ; + skos:exactMatch UMLS:C1366587, + UMLS:C1834590, + HGNC:6943, + HGNC_symbol:MCL1 ; biolink:category biolink:Gene . OMIM:159553 a owl:Class ; rdfs:label "MNDA" ; IAO:0000142 PMID:1644857, PMID:7512843 ; - oboInOwl:hasDbXref UMLS:C1417219 ; oboInOwl:hasExactSynonym "MNDA", "myeloid cell nuclear differentiation antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4332 ; - skos:exactMatch HGNC_symbol:MNDA ; + skos:exactMatch UMLS:C1417219, + HGNC:7183, + HGNC_symbol:MNDA ; biolink:category biolink:Gene . OMIM:159555 a owl:Class ; @@ -49160,8 +50363,6 @@ OMIM:159555 a owl:Class ; PMID:9694699 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:605130 ; - oboInOwl:hasDbXref UMLS:C0919528, - UMLS:C1854630 ; oboInOwl:hasExactSynonym "KMT2A", "all1 gene", "cxxc finger protein 7", @@ -49196,7 +50397,10 @@ OMIM:159555 a owl:Class ; "trithorax, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4297 ; - skos:exactMatch HGNC_symbol:KMT2A ; + skos:exactMatch UMLS:C0919528, + UMLS:C1854630, + HGNC:7132, + HGNC_symbol:KMT2A ; biolink:category biolink:Gene . OMIM:159556 a owl:Class ; @@ -49209,7 +50413,6 @@ OMIM:159556 a owl:Class ; PMID:7991593, PMID:8080983, PMID:8506309 ; - oboInOwl:hasDbXref UMLS:C1334513 ; oboInOwl:hasExactSynonym "MLLT1", "eleven-nineteen leukemia gene", "enl/mll fusion gene", @@ -49218,7 +50421,9 @@ OMIM:159556 a owl:Class ; "myeloid/lymphoid or mixed lineage leukemia, translocated to, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4298 ; - skos:exactMatch HGNC_symbol:MLLT1 ; + skos:exactMatch UMLS:C1334513, + HGNC:7134, + HGNC_symbol:MLLT1 ; biolink:category biolink:Gene . OMIM:159557 a owl:Class ; @@ -49229,7 +50434,6 @@ OMIM:159557 a owl:Class ; PMID:8506309, PMID:9680349, PMID:9880680 ; - oboInOwl:hasDbXref UMLS:C1826604 ; oboInOwl:hasExactSynonym "AFF1", "af4/fmr2 family, member 1", "all1-fused gene from chromosome 4", @@ -49237,7 +50441,9 @@ OMIM:159557 a owl:Class ; "myeloid/lymphoid or mixed lineage leukemia, translocated to, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4299 ; - skos:exactMatch HGNC_symbol:AFF1 ; + skos:exactMatch UMLS:C1826604, + HGNC:7135, + HGNC_symbol:AFF1 ; biolink:category biolink:Gene . OMIM:159558 a owl:Class ; @@ -49248,7 +50454,6 @@ OMIM:159558 a owl:Class ; PMID:27626380, PMID:31776511, PMID:8506309 ; - oboInOwl:hasDbXref UMLS:C1334515 ; oboInOwl:hasExactSynonym "MLLT3", "all1-fused gene from chromosome 9", "mixed lineage leukemia, translocated to, 3", @@ -49256,7 +50461,9 @@ OMIM:159558 a owl:Class ; "myeloid/lymphoid or mixed lineage leukemia, translocated to, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4300 ; - skos:exactMatch HGNC_symbol:MLLT3 ; + skos:exactMatch UMLS:C1334515, + HGNC:7136, + HGNC_symbol:MLLT3 ; biolink:category biolink:Gene . OMIM:159559 a owl:Class ; @@ -49270,8 +50477,6 @@ OMIM:159559 a owl:Class ; PMID:9349501, PMID:9679199, PMID:9722616 ; - oboInOwl:hasDbXref UMLS:C1334516, - UMLS:C1834588 ; oboInOwl:hasExactSynonym "AFDN", "af6/mll fusion gene", "afadin", @@ -49281,7 +50486,10 @@ OMIM:159559 a owl:Class ; "myeloid/lymphoid or mixed lineage leukemia, translocated to, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4301 ; - skos:exactMatch HGNC_symbol:AFDN ; + skos:exactMatch UMLS:C1334516, + UMLS:C1834588, + HGNC:7137, + HGNC_symbol:AFDN ; biolink:category biolink:Gene . OMIM:159580 a owl:Class ; @@ -49299,10 +50507,10 @@ OMIM:159580 a owl:Class ; PMID:3030190, PMID:7603241, PMID:8455685 ; - oboInOwl:hasDbXref UMLS:C0030481 ; oboInOwl:hasExactSynonym "HAM", "familial spastic paraparesis, htlv-1-associated", - "myelopathy, htlv-1-associated" . + "myelopathy, htlv-1-associated" ; + skos:exactMatch UMLS:C0030481 . OMIM:159590 a owl:Class ; rdfs:label "CD33" ; @@ -49312,7 +50520,6 @@ OMIM:159590 a owl:Class ; PMID:23708142, PMID:3390608, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1439292 ; oboInOwl:hasExactSynonym "CD33", "cd33 antigen", "myeloid differentiation antigen cd33", @@ -49320,14 +50527,16 @@ OMIM:159590 a owl:Class ; "sialic acid-binding immunoglobulin-like lectin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:945 ; - skos:exactMatch HGNC_symbol:CD33 ; + skos:exactMatch UMLS:C1439292, + HGNC:1659, + HGNC_symbol:CD33 ; biolink:category biolink:Gene . OMIM:159600 a owl:Class ; rdfs:label "myoclonic epilepsy, hartung iia" ; IAO:0000142 PMID:5868699 ; - oboInOwl:hasDbXref UMLS:C1834581 ; oboInOwl:hasExactSynonym "myoclonic epilepsy, hartung iia" ; + skos:exactMatch UMLS:C1834581 ; biolink:category biolink:Disease . OMIM:159700 a owl:Class ; @@ -49339,15 +50548,15 @@ OMIM:159700 a owl:Class ; PMID:3088452, PMID:99688 ; IAO:0100001 OMIM:213400 ; - oboInOwl:hasDbXref UMLS:C1834580 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1834580 . OMIM:159800 a owl:Class ; rdfs:label "myoclonus, cerebellar ataxia, and deafness" ; IAO:0000142 PMID:5698045, PMID:6537856 ; - oboInOwl:hasDbXref UMLS:C1834579 ; - oboInOwl:hasExactSynonym "myoclonus, cerebellar ataxia, and deafness" . + oboInOwl:hasExactSynonym "myoclonus, cerebellar ataxia, and deafness" ; + skos:exactMatch UMLS:C1834579 . OMIM:159970 a owl:Class ; rdfs:label "MYOD1" ; @@ -49374,15 +50583,16 @@ OMIM:159970 a owl:Class ; PMID:8269513 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:618975 ; - oboInOwl:hasDbXref UMLS:C1417574, - UMLS:C5436530 ; oboInOwl:hasExactSynonym "MYOD1", "myod", "myogenic differentiation antigen 1", "myogenic factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4654 ; - skos:exactMatch HGNC_symbol:MYOD1 ; + skos:exactMatch UMLS:C1417574, + UMLS:C5436530, + HGNC:7611, + HGNC_symbol:MYOD1 ; biolink:category biolink:Gene . OMIM:159980 a owl:Class ; @@ -49393,13 +50603,14 @@ OMIM:159980 a owl:Class ; PMID:20887891, PMID:8393145, PMID:8393146 ; - oboInOwl:hasDbXref UMLS:C1417575 ; oboInOwl:hasExactSynonym "MYOG", "myogenic factor 4", "myogenin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4656 ; - skos:exactMatch HGNC_symbol:MYOG ; + skos:exactMatch UMLS:C1417575, + HGNC:7612, + HGNC_symbol:MYOG ; biolink:category biolink:Gene . OMIM:159990 a owl:Class ; @@ -49415,12 +50626,13 @@ OMIM:159990 a owl:Class ; PMID:8978788 ; RO:0002525 CHR:9606chr12q21.31 ; RO:0003303 OMIM:618155 ; - oboInOwl:hasDbXref UMLS:C1417532 ; oboInOwl:hasExactSynonym "MYF5", "myogenic factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4617 ; - skos:exactMatch HGNC_symbol:MYF5 ; + skos:exactMatch UMLS:C1417532, + HGNC:7565, + HGNC_symbol:MYF5 ; biolink:category biolink:Gene . OMIM:159991 a owl:Class ; @@ -49433,14 +50645,15 @@ OMIM:159991 a owl:Class ; PMID:7590734, PMID:8939680, PMID:8978788 ; - oboInOwl:hasDbXref UMLS:C1417533 ; oboInOwl:hasExactSynonym "MYF6", "herculin", "muscle regulatory factor 4", "myogenic factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4618 ; - skos:exactMatch HGNC_symbol:MYF6 ; + skos:exactMatch UMLS:C1417533, + HGNC:7566, + HGNC_symbol:MYF6 ; biolink:category biolink:Gene . OMIM:160000 a owl:Class ; @@ -49456,19 +50669,20 @@ OMIM:160000 a owl:Class ; PMID:6571704, PMID:6935681, PMID:9804424 ; - oboInOwl:hasDbXref UMLS:C1417048 ; oboInOwl:hasExactSynonym "MB", "myoglobin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4151 ; - skos:exactMatch HGNC_symbol:MB ; + skos:exactMatch UMLS:C1417048, + HGNC:6915, + HGNC_symbol:MB ; biolink:category biolink:Gene . OMIM:160010 a owl:Class ; rdfs:label "myoglobinuria, autosomal dominant" ; IAO:0000142 PMID:9098484 ; - oboInOwl:hasDbXref UMLS:C1834567 ; oboInOwl:hasExactSynonym "myoglobinuria, autosomal dominant" ; + skos:exactMatch UMLS:C1834567 ; biolink:category biolink:Disease . OMIM:160100 a owl:Class ; @@ -49482,8 +50696,8 @@ OMIM:160200 a owl:Class ; OMIM:160300 a owl:Class ; rdfs:label "myopathy, distal, infantile-onset" ; IAO:0000142 PMID:5834698 ; - oboInOwl:hasDbXref UMLS:C4011725 ; oboInOwl:hasExactSynonym "myopathy, distal, infantile-onset" ; + skos:exactMatch UMLS:C4011725 ; biolink:category biolink:Disease . OMIM:160500 a owl:Class ; @@ -49499,12 +50713,13 @@ OMIM:160500 a owl:Class ; PMID:21395566, PMID:7484058, PMID:7847377 ; - oboInOwl:hasDbXref UMLS:C4552004 ; oboInOwl:hasExactSynonym "MPD1", "laing distal myopathy", "myopathy, distal, 1", "myopathy, distal, early-onset, autosomal dominant", "myopathy, late distal hereditary" ; + rdfs:subClassOf OMIMPS:160500 ; + skos:exactMatch UMLS:C4552004 ; biolink:category biolink:Disease . OMIM:160550 a owl:Class ; @@ -49523,13 +50738,13 @@ OMIM:160565 a owl:Class ; PMID:25326555, PMID:6681878, PMID:9447609 ; - oboInOwl:hasDbXref UMLS:C0410207, - UMLS:C4011726 ; oboInOwl:hasExactSynonym "TAM1", "myopathy, tubular aggregate", "myopathy, tubular aggregate, 1", "tubular aggregate myopathy" ; rdfs:subClassOf OMIMPS:160565 ; + skos:exactMatch UMLS:C0410207, + UMLS:C4011726 ; biolink:category biolink:Disease . OMIM:160570 a owl:Class ; @@ -49537,8 +50752,8 @@ OMIM:160570 a owl:Class ; IAO:0000142 PMID:4139016, PMID:4181630, PMID:6465204 ; - oboInOwl:hasDbXref UMLS:C1834532 ; - oboInOwl:hasExactSynonym "myopathy with storage of glycoproteins and glycosaminoglycans" . + oboInOwl:hasExactSynonym "myopathy with storage of glycoproteins and glycosaminoglycans" ; + skos:exactMatch UMLS:C1834532 . OMIM:160710 a owl:Class ; rdfs:label "MYH6" ; @@ -49572,19 +50787,20 @@ OMIM:160710 a owl:Class ; PMID:8307559 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:614090 ; - oboInOwl:hasDbXref UMLS:C1417541, - UMLS:C2750466, - UMLS:C2750467, - UMLS:C3279790, - UMLS:C3279791, - UMLS:C4016269 ; oboInOwl:hasExactSynonym "MYH6", "myh, cardiac", "myosin, cardiac, heavy chain, alpha", "myosin, heavy chain 6, cardiac muscle, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4624 ; - skos:exactMatch HGNC_symbol:MYH6 ; + skos:exactMatch UMLS:C1417541, + UMLS:C2750466, + UMLS:C2750467, + UMLS:C3279790, + UMLS:C3279791, + UMLS:C4016269, + HGNC:7576, + HGNC_symbol:MYH6 ; biolink:category biolink:Gene . OMIM:160720 a owl:Class ; @@ -49604,18 +50820,19 @@ OMIM:160720 a owl:Class ; PMID:29805041 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:618469 ; - oboInOwl:hasDbXref UMLS:C0265224, - UMLS:C1417538, - UMLS:C1867440, - UMLS:C5193098, - UMLS:C5193114 ; oboInOwl:hasExactSynonym "MYH3", "myhc-emb", "myosin, heavy chain 3, skeletal muscle, embryonic", "myosin, skeletal, heavy chain, embryonic 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4621 ; - skos:exactMatch HGNC_symbol:MYH3 ; + skos:exactMatch UMLS:C0265224, + UMLS:C1417538, + UMLS:C1867440, + UMLS:C5193098, + UMLS:C5193114, + HGNC:7573, + HGNC_symbol:MYH3 ; biolink:category biolink:Gene . OMIM:160730 a owl:Class ; @@ -49632,7 +50849,6 @@ OMIM:160730 a owl:Class ; PMID:6879174, PMID:7545970, PMID:8518795 ; - oboInOwl:hasDbXref UMLS:C1417534 ; oboInOwl:hasExactSynonym "MYH1", "mhc iix/d", "myh2x/d", @@ -49643,7 +50859,9 @@ OMIM:160730 a owl:Class ; "myosin, skeletal, heavy chain, adult 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4619 ; - skos:exactMatch HGNC_symbol:MYH1 ; + skos:exactMatch UMLS:C1417534, + HGNC:7567, + HGNC_symbol:MYH1 ; biolink:category biolink:Gene . OMIM:160740 a owl:Class ; @@ -49662,8 +50880,6 @@ OMIM:160740 a owl:Class ; PMID:7545970 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:605637 ; - oboInOwl:hasDbXref UMLS:C1417537, - UMLS:C1854106 ; oboInOwl:hasExactSynonym "MYH2", "mhc iia", "myhc iia", @@ -49672,7 +50888,10 @@ OMIM:160740 a owl:Class ; "myosin, skeletal, heavy chain, adult 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4620 ; - skos:exactMatch HGNC_symbol:MYH2 ; + skos:exactMatch UMLS:C1417537, + UMLS:C1854106, + HGNC:7572, + HGNC_symbol:MYH2 ; biolink:category biolink:Gene . OMIM:160741 a owl:Class ; @@ -49691,7 +50910,6 @@ OMIM:160741 a owl:Class ; PMID:8518795 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:158300 ; - oboInOwl:hasDbXref UMLS:C1417543 ; oboInOwl:hasExactSynonym "MYH8", "myhc-peri", "myhc-pn", @@ -49699,7 +50917,9 @@ OMIM:160741 a owl:Class ; "myosin, heavy chain, perinatal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4626 ; - skos:exactMatch HGNC_symbol:MYH8 ; + skos:exactMatch UMLS:C1417543, + HGNC:7578, + HGNC_symbol:MYH8 ; biolink:category biolink:Gene . OMIM:160742 a owl:Class ; @@ -49707,7 +50927,6 @@ OMIM:160742 a owl:Class ; IAO:0000142 PMID:10388558, PMID:3000272, PMID:8518795 ; - oboInOwl:hasDbXref UMLS:C1417539 ; oboInOwl:hasExactSynonym "MYH4", "mhc iib", "myhc iib", @@ -49716,7 +50935,9 @@ OMIM:160742 a owl:Class ; "myosin, skeletal muscle, heavy chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4622 ; - skos:exactMatch HGNC_symbol:MYH4 ; + skos:exactMatch UMLS:C1417539, + HGNC:7574, + HGNC_symbol:MYH4 ; biolink:category biolink:Gene . OMIM:160745 a owl:Class ; @@ -49737,8 +50958,6 @@ OMIM:160745 a owl:Class ; PMID:9157967 ; RO:0002525 CHR:9606chr16p13.11 ; RO:0003303 OMIM:619350 ; - oboInOwl:hasDbXref UMLS:C1334538, - UMLS:C3277202 ; oboInOwl:hasExactSynonym "MYH11", "myh11/cbfb fusion gene", "myosin, heavy chain 11, smooth muscle", @@ -49746,16 +50965,19 @@ OMIM:160745 a owl:Class ; "smooth muscle myosin heavy chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4629 ; - skos:exactMatch HGNC_symbol:MYH11 ; + skos:exactMatch UMLS:C1334538, + UMLS:C3277202, + HGNC:7569, + HGNC_symbol:MYH11 ; biolink:category biolink:Gene . OMIM:160750 a owl:Class ; rdfs:label "myositis" ; IAO:0000142 PMID:9550481 ; - oboInOwl:hasDbXref UMLS:C0027121, - UMLS:C3888318 ; oboInOwl:hasExactSynonym "myopathy, familial idiopathic inflammatory", "myositis" ; + skos:exactMatch UMLS:C0027121, + UMLS:C3888318 ; biolink:category biolink:Disease . OMIM:160760 a owl:Class ; @@ -49843,13 +51065,14 @@ OMIM:160760 a owl:Class ; PMID:9884344 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:181430 ; - oboInOwl:hasDbXref UMLS:C1417542 ; oboInOwl:hasExactSynonym "MYH7", "myosin, cardiac, heavy chain, beta", "myosin, heavy chain 7, cardiac muscle, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4625 ; - skos:exactMatch HGNC_symbol:MYH7 ; + skos:exactMatch UMLS:C1417542, + HGNC:7577, + HGNC_symbol:MYH7 ; biolink:category biolink:Gene . OMIM:160770 a owl:Class ; @@ -49860,14 +51083,15 @@ OMIM:160770 a owl:Class ; PMID:6879193 ; RO:0002525 CHR:9606chr17q21.32 ; RO:0003303 OMIM:617280 ; - oboInOwl:hasDbXref UMLS:C1417549 ; oboInOwl:hasExactSynonym "MYL4", "embryonic/atrial myosin alkali light chain", "myosin, atrial/fetal muscle, light chain", "myosin, light chain 4, alkali, atrial, embryonic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4635 ; - skos:exactMatch HGNC_symbol:MYL4 ; + skos:exactMatch UMLS:C1417549, + HGNC:7585, + HGNC_symbol:MYL4 ; biolink:category biolink:Gene . OMIM:160775 a owl:Class ; @@ -49920,12 +51144,6 @@ OMIM:160775 a owl:Class ; PMID:9390828 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:155100 ; - oboInOwl:hasDbXref UMLS:C1417544, - UMLS:C1863659, - UMLS:C4693968, - UMLS:C4693969, - UMLS:C4693970, - UMLS:C5200934 ; oboInOwl:hasExactSynonym "MYH9", "cellular myosin heavy chain, iia a", "myosin, heavy chain 9, nonmuscle", @@ -49934,7 +51152,14 @@ OMIM:160775 a owl:Class ; "nonmuscle myosin 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4627 ; - skos:exactMatch HGNC_symbol:MYH9 ; + skos:exactMatch UMLS:C1417544, + UMLS:C1863659, + UMLS:C4693968, + UMLS:C4693969, + UMLS:C4693970, + UMLS:C5200934, + HGNC:7579, + HGNC_symbol:MYH9 ; biolink:category biolink:Gene . OMIM:160776 a owl:Class ; @@ -49951,8 +51176,6 @@ OMIM:160776 a owl:Class ; PMID:24901346, PMID:25003005, PMID:25356899 ; - oboInOwl:hasDbXref UMLS:C1417535, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "MYH10", "cellular myosin heavy chain, iia B", "myosin, heavy chain 10, nonmuscle", @@ -49961,7 +51184,10 @@ OMIM:160776 a owl:Class ; "nonmuscle myosin 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4628 ; - skos:exactMatch HGNC_symbol:MYH10 ; + skos:exactMatch UMLS:C1417535, + UMLS:C2986382, + HGNC:7568, + HGNC_symbol:MYH10 ; biolink:category biolink:Gene . OMIM:160777 a owl:Class ; @@ -49998,7 +51224,6 @@ OMIM:160777 a owl:Class ; PMID:9671730 ; RO:0002525 CHR:9606chr15q21.2 ; RO:0003303 OMIM:214450 ; - oboInOwl:hasDbXref UMLS:C1417565 ; oboInOwl:hasExactSynonym "MYO5A", "dilute, mouse, homolog of", "myo5", @@ -50007,7 +51232,9 @@ OMIM:160777 a owl:Class ; "myoxin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4644 ; - skos:exactMatch HGNC_symbol:MYO5A ; + skos:exactMatch UMLS:C1417565, + HGNC:7602, + HGNC_symbol:MYO5A ; biolink:category biolink:Gene . OMIM:160780 a owl:Class ; @@ -50019,13 +51246,14 @@ OMIM:160780 a owl:Class ; PMID:3904738 ; RO:0002525 CHR:9606chr2q34 ; RO:0003303 OMIM:618414 ; - oboInOwl:hasDbXref UMLS:C1417546 ; oboInOwl:hasExactSynonym "MYL1", "myosin, light chain, fast skeletal", "myosin, light polypeptide 1, alkali, skeletal, fast" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4632 ; - skos:exactMatch HGNC_symbol:MYL1 ; + skos:exactMatch UMLS:C1417546, + HGNC:7582, + HGNC_symbol:MYL1 ; biolink:category biolink:Gene . OMIM:160781 a owl:Class ; @@ -50043,7 +51271,6 @@ OMIM:160781 a owl:Class ; PMID:9535554 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:619424 ; - oboInOwl:hasDbXref UMLS:C1417547 ; oboInOwl:hasExactSynonym "MYL2", "mlc2", "myosin, light chain 2, regulatory, cardiac, slow", @@ -50052,18 +51279,21 @@ OMIM:160781 a owl:Class ; "rlc of myosin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4633 ; - skos:exactMatch HGNC_symbol:MYL2 ; + skos:exactMatch UMLS:C1417547, + HGNC:7583, + HGNC_symbol:MYL2 ; biolink:category biolink:Gene . OMIM:160782 a owl:Class ; rdfs:label "MYL5" ; IAO:0000142 PMID:1284596 ; - oboInOwl:hasDbXref UMLS:C1417550 ; oboInOwl:hasExactSynonym "MYL5", "myosin, light chain 5, regulatory" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4636 ; - skos:exactMatch HGNC_symbol:MYL5 ; + skos:exactMatch UMLS:C1417550, + HGNC:7586, + HGNC_symbol:MYL5 ; biolink:category biolink:Gene . OMIM:160790 a owl:Class ; @@ -50081,7 +51311,6 @@ OMIM:160790 a owl:Class ; PMID:9020178 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:608751 ; - oboInOwl:hasDbXref UMLS:C1417548 ; oboInOwl:hasExactSynonym "MYL3", "elc of myosin", "essential light chain of myosin", @@ -50090,19 +51319,22 @@ OMIM:160790 a owl:Class ; "myosin, light chain 3, alkali, ventricular, skeletal, slow" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4634 ; - skos:exactMatch HGNC_symbol:MYL3 ; + skos:exactMatch UMLS:C1417548, + HGNC:7584, + HGNC_symbol:MYL3 ; biolink:category biolink:Gene . OMIM:160793 a owl:Class ; rdfs:label "MYBPC2" ; IAO:0000142 PMID:8375400 ; - oboInOwl:hasDbXref UMLS:C1417522 ; oboInOwl:hasExactSynonym "MYBPC2", "mybpcf", "myosin-binding protein c, fast iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4606 ; - skos:exactMatch HGNC_symbol:MYBPC2 ; + skos:exactMatch UMLS:C1417522, + HGNC:7550, + HGNC_symbol:MYBPC2 ; biolink:category biolink:Gene . OMIM:160794 a owl:Class ; @@ -50115,25 +51347,27 @@ OMIM:160794 a owl:Class ; PMID:8375400 ; RO:0002525 CHR:9606chr12q23.2 ; RO:0003303 OMIM:618524 ; - oboInOwl:hasDbXref UMLS:C1417521 ; oboInOwl:hasExactSynonym "MYBPC1", "mybpcs", "myosin-binding protein c, slow iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4604 ; - skos:exactMatch HGNC_symbol:MYBPC1 ; + skos:exactMatch UMLS:C1417521, + HGNC:7549, + HGNC_symbol:MYBPC1 ; biolink:category biolink:Gene . OMIM:160795 a owl:Class ; rdfs:label "MYBPH" ; IAO:0000142 PMID:8486381 ; - oboInOwl:hasDbXref UMLS:C1417524 ; oboInOwl:hasExactSynonym "MYBPH", "myosin-binding protein h", "myosin-binding protein, 86-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4608 ; - skos:exactMatch HGNC_symbol:MYBPH ; + skos:exactMatch UMLS:C1417524, + HGNC:7552, + HGNC_symbol:MYBPH ; biolink:category biolink:Gene . OMIM:160800 a owl:Class ; @@ -50160,38 +51394,38 @@ OMIM:160800 a owl:Class ; PMID:8112288, PMID:8855341, PMID:942314 ; - oboInOwl:hasDbXref UMLS:C0270959, - UMLS:C2936781 ; oboInOwl:hasExactSynonym "myotonia congenita, autosomal dominant", "myotonia levior", "thomsen disease" ; + skos:exactMatch UMLS:C0270959, + UMLS:C2936781 ; biolink:category biolink:Disease . OMIM:160990 a owl:Class ; rdfs:label "myotonic myopathy with cylindrical spirals" ; IAO:0000142 PMID:7436360 ; - oboInOwl:hasDbXref UMLS:C1834418 ; - oboInOwl:hasExactSynonym "myotonic myopathy with cylindrical spirals" . + oboInOwl:hasExactSynonym "myotonic myopathy with cylindrical spirals" ; + skos:exactMatch UMLS:C1834418 . OMIM:160993 a owl:Class ; rdfs:label "NMT1" ; IAO:0000142 PMID:1570339, PMID:15753093, PMID:9506952 ; - oboInOwl:hasDbXref UMLS:C1417746 ; oboInOwl:hasExactSynonym "NMT1", "myristoyl-coa:protein n-myristoyltransferase", "n-myristoyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4836 ; - skos:exactMatch HGNC_symbol:NMT1 ; + skos:exactMatch UMLS:C1417746, + HGNC:7857, + HGNC_symbol:NMT1 ; biolink:category biolink:Gene . OMIM:160994 a owl:Class ; rdfs:label "HNRNPM" ; IAO:0000142 PMID:8088785, PMID:8441656 ; - oboInOwl:hasDbXref UMLS:C1415647 ; oboInOwl:hasExactSynonym "HNRNPM", "heterogeneous nuclear ribonucleoprotein m", "heterogeneous nuclear ribonucleoprotein m4", @@ -50199,7 +51433,9 @@ OMIM:160994 a owl:Class ; "n-acetylglucosamine receptor 1, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4670 ; - skos:exactMatch HGNC_symbol:HNRNPM ; + skos:exactMatch UMLS:C1415647, + HGNC:5046, + HGNC_symbol:HNRNPM ; biolink:category biolink:Gene . OMIM:160995 a owl:Class ; @@ -50214,7 +51450,6 @@ OMIM:160995 a owl:Class ; PMID:8290590, PMID:8910379, PMID:9020882 ; - oboInOwl:hasDbXref UMLS:C1417133 ; oboInOwl:hasExactSynonym "MGAT1", "alpha-1,3-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase", "glcnac-t 1", @@ -50223,7 +51458,9 @@ OMIM:160995 a owl:Class ; "udp-n-acetylglucosamine:alpha-3-d-mannoside beta-1,2-n-acetylglucosaminyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4245 ; - skos:exactMatch HGNC_symbol:MGAT1 ; + skos:exactMatch UMLS:C1417133, + HGNC:7044, + HGNC_symbol:MGAT1 ; biolink:category biolink:Gene . OMIM:160998 a owl:Class ; @@ -50237,13 +51474,14 @@ OMIM:160998 a owl:Class ; PMID:9367528 ; RO:0002525 CHR:9606chr6p25.2 ; RO:0003303 OMIM:114480 ; - oboInOwl:hasDbXref UMLS:C1417745 ; oboInOwl:hasExactSynonym "NQO2", "nad(p)h dehydrogenase, quinone 2", "nad(p)h:menadione oxidoreductase 1, dioxin-inducible 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4835 ; - skos:exactMatch HGNC_symbol:NQO2 ; + skos:exactMatch UMLS:C1417745, + HGNC:7856, + HGNC_symbol:NQO2 ; biolink:category biolink:Gene . OMIM:161015 a owl:Class ; @@ -50257,59 +51495,60 @@ OMIM:161015 a owl:Class ; PMID:9344673 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:618225 ; - oboInOwl:hasDbXref UMLS:C1417652 ; oboInOwl:hasExactSynonym "NDUFV1", "complex i, mitochondrial respiratory chain, 51-kd subunit", "nadh-ubiquinone oxidoreductase flavoprotein 1", "uqor1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4723 ; - skos:exactMatch HGNC_symbol:NDUFV1 ; + skos:exactMatch UMLS:C1417652, + HGNC:7716, + HGNC_symbol:NDUFV1 ; biolink:category biolink:Gene . OMIM:161070 a owl:Class ; rdfs:label "nail high-sulfur protein" ; IAO:0000142 PMID:6157756 ; - oboInOwl:hasDbXref UMLS:C1834404 ; - oboInOwl:hasExactSynonym "nail high-sulfur protein" . + oboInOwl:hasExactSynonym "nail high-sulfur protein" ; + skos:exactMatch UMLS:C1834404 . OMIM:161080 a owl:Class ; rdfs:label "nail low-sulfur protein" ; - oboInOwl:hasDbXref UMLS:C1834403 ; - oboInOwl:hasExactSynonym "nail low-sulfur protein" . + oboInOwl:hasExactSynonym "nail low-sulfur protein" ; + skos:exactMatch UMLS:C1834403 . OMIM:161100 a owl:Class ; rdfs:label "nailbeds, pigmentation of" ; - oboInOwl:hasDbXref UMLS:C1834402 ; - oboInOwl:hasExactSynonym "nailbeds, pigmentation of" . + oboInOwl:hasExactSynonym "nailbeds, pigmentation of" ; + skos:exactMatch UMLS:C1834402 . OMIM:161470 a owl:Class ; rdfs:label "nasal alar collapse, bilateral" ; IAO:0000142 PMID:1308370, PMID:3380905 ; - oboInOwl:hasDbXref UMLS:C1834371 ; - oboInOwl:hasExactSynonym "nasal alar collapse, bilateral" . + oboInOwl:hasExactSynonym "nasal alar collapse, bilateral" ; + skos:exactMatch UMLS:C1834371 . OMIM:161480 a owl:Class ; rdfs:label "nasal bones, absence of" ; IAO:0000142 PMID:15933534, PMID:16044236, PMID:8494308 ; - oboInOwl:hasDbXref UMLS:C0339851 ; - oboInOwl:hasExactSynonym "nasal bones, absence of" . + oboInOwl:hasExactSynonym "nasal bones, absence of" ; + skos:exactMatch UMLS:C0339851 . OMIM:161500 a owl:Class ; rdfs:label "nasal groove, familial transverse" ; IAO:0000142 PMID:13683257 ; - oboInOwl:hasDbXref UMLS:C1834370 ; oboInOwl:hasExactSynonym "nasal groove, familial transverse" ; + skos:exactMatch UMLS:C1834370 ; biolink:category biolink:Disease . OMIM:161530 a owl:Class ; rdfs:label "nasal hyperpigmentation, familial transverse" ; IAO:0000142 PMID:4847756 ; - oboInOwl:hasDbXref UMLS:C1834369 ; - oboInOwl:hasExactSynonym "nasal hyperpigmentation, familial transverse" . + oboInOwl:hasExactSynonym "nasal hyperpigmentation, familial transverse" ; + skos:exactMatch UMLS:C1834369 . OMIM:161555 a owl:Class ; rdfs:label "KLRC1" ; @@ -50323,7 +51562,6 @@ OMIM:161555 a owl:Class ; PMID:9218532, PMID:9486650, PMID:9598306 ; - oboInOwl:hasDbXref UMLS:C1416682 ; oboInOwl:hasExactSynonym "KLRC1", "killer cell lectin-like receptor, subfamily c, member 1", "natural killer cell lectin", @@ -50331,7 +51569,9 @@ OMIM:161555 a owl:Class ; "nkg2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3821 ; - skos:exactMatch HGNC_symbol:KLRC1 ; + skos:exactMatch UMLS:C1416682, + HGNC:6374, + HGNC_symbol:KLRC1 ; biolink:category biolink:Gene . OMIM:161560 a owl:Class ; @@ -50358,7 +51598,6 @@ OMIM:161560 a owl:Class ; PMID:7911046, PMID:8661735, PMID:9342359 ; - oboInOwl:hasDbXref UMLS:C1334101 ; oboInOwl:hasExactSynonym "IL12A", "cytotoxic lymphocyte maturation factor", "il12, p35 subunit", @@ -50367,7 +51606,9 @@ OMIM:161560 a owl:Class ; "natural killer cell stimulatory factor, 35-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3592 ; - skos:exactMatch HGNC_symbol:IL12A ; + skos:exactMatch UMLS:C1334101, + HGNC:5969, + HGNC_symbol:IL12A ; biolink:category biolink:Gene . OMIM:161561 a owl:Class ; @@ -50410,7 +51651,6 @@ OMIM:161561 a owl:Class ; PMID:9854038 ; RO:0002525 CHR:9606chr5q33.3 ; RO:0003303 OMIM:614890 ; - oboInOwl:hasDbXref UMLS:C1334102 ; oboInOwl:hasExactSynonym "IL12B", "cytotoxic lymphocyte maturation factor 2", "il12, subunit p40", @@ -50419,7 +51659,9 @@ OMIM:161561 a owl:Class ; "natural killer cell stimulatory factor, 40-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3593 ; - skos:exactMatch HGNC_symbol:IL12B ; + skos:exactMatch UMLS:C1334102, + HGNC:5970, + HGNC_symbol:IL12B ; biolink:category biolink:Gene . OMIM:161565 a owl:Class ; @@ -50429,13 +51671,14 @@ OMIM:161565 a owl:Class ; PMID:8413330, PMID:8421688, PMID:9070924 ; - oboInOwl:hasDbXref UMLS:C0812448 ; oboInOwl:hasExactSynonym "NKTR", "natural killer cell triggering receptor", "natural killer tumor recognition sequence" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4820 ; - skos:exactMatch HGNC_symbol:NKTR ; + skos:exactMatch UMLS:C0812448, + HGNC:7833, + HGNC_symbol:NKTR ; biolink:category biolink:Gene . OMIM:161600 a owl:Class ; @@ -50444,8 +51687,8 @@ OMIM:161600 a owl:Class ; PMID:11110140, PMID:13437469, PMID:6861408 ; - oboInOwl:hasDbXref UMLS:C1267087 ; - oboInOwl:hasExactSynonym "navicular bone, accessory" . + oboInOwl:hasExactSynonym "navicular bone, accessory" ; + skos:exactMatch UMLS:C1267087 . OMIM:161650 a owl:Class ; rdfs:label "NEB" ; @@ -50473,20 +51716,21 @@ OMIM:161650 a owl:Class ; PMID:9359044 ; RO:0002525 CHR:9606chr2q23.3 ; RO:0003303 OMIM:256030 ; - oboInOwl:hasDbXref UMLS:C1417656 ; oboInOwl:hasExactSynonym "NEB", "nebulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4703 ; - skos:exactMatch HGNC_symbol:NEB ; + skos:exactMatch UMLS:C1417656, + HGNC:7720, + HGNC_symbol:NEB ; biolink:category biolink:Gene . OMIM:161700 a owl:Class ; rdfs:label "necrotizing encephalomyelopathy, subacute, of leigh, adult" ; IAO:0000142 PMID:230781 ; - oboInOwl:hasDbXref UMLS:C1834340 ; oboInOwl:hasExactSynonym "leigh syndrome, adult", - "necrotizing encephalomyelopathy, subacute, of leigh, adult" . + "necrotizing encephalomyelopathy, subacute, of leigh, adult" ; + skos:exactMatch UMLS:C1834340 . OMIM:162010 a owl:Class ; rdfs:label "NGFR" ; @@ -50529,7 +51773,6 @@ OMIM:162010 a owl:Class ; PMID:8614802, PMID:9052790, PMID:9857182 ; - oboInOwl:hasDbXref UMLS:C1334879 ; oboInOwl:hasExactSynonym "NGFR", "cd271", "nerve growth factor receptor", @@ -50537,15 +51780,17 @@ OMIM:162010 a owl:Class ; "tumor necrosis factor receptor superfamily, member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4804 ; - skos:exactMatch HGNC_symbol:NGFR ; + skos:exactMatch UMLS:C1334879, + HGNC:7809, + HGNC_symbol:NGFR ; biolink:category biolink:Gene . OMIM:162020 a owl:Class ; IAO:0000142 PMID:18323418, PMID:3848399 ; IAO:0100001 OMIM:147910 ; - oboInOwl:hasDbXref UMLS:C3887786 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C3887786 . OMIM:162030 a owl:Class ; rdfs:label "NGF" ; @@ -50578,13 +51823,14 @@ OMIM:162030 a owl:Class ; PMID:8808283 ; RO:0002525 CHR:9606chr1p13.2 ; RO:0003303 OMIM:608654 ; - oboInOwl:hasDbXref UMLS:C1417719 ; oboInOwl:hasExactSynonym "NGF", "nerve growth factor", "nerve growth factor, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4803 ; - skos:exactMatch HGNC_symbol:NGF ; + skos:exactMatch UMLS:C1417719, + HGNC:7808, + HGNC_symbol:NGF ; biolink:category biolink:Gene . OMIM:162040 a owl:Class ; @@ -50598,14 +51844,15 @@ OMIM:162060 a owl:Class ; PMID:7859286, PMID:8746449, PMID:9139245 ; - oboInOwl:hasDbXref UMLS:C1414967 ; oboInOwl:hasExactSynonym "GAP43", "growth-associated protein 43", "nerve growth-related peptide gap43", "neuromodulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2596 ; - skos:exactMatch HGNC_symbol:GAP43 ; + skos:exactMatch UMLS:C1414967, + HGNC:4140, + HGNC_symbol:GAP43 ; biolink:category biolink:Gene . OMIM:162080 a owl:Class ; @@ -50631,14 +51878,15 @@ OMIM:162080 a owl:Class ; PMID:9344665 ; RO:0002525 CHR:9606chr14q11.2-q12 ; RO:0003303 OMIM:613750 ; - oboInOwl:hasDbXref UMLS:C1417848 ; oboInOwl:hasExactSynonym "NRL", "d14s46e", "neural retina leucine zipper", "neural retina-specific gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4901 ; - skos:exactMatch HGNC_symbol:NRL ; + skos:exactMatch UMLS:C1417848, + HGNC:8002, + HGNC_symbol:NRL ; biolink:category biolink:Gene . OMIM:162095 a owl:Class ; @@ -50654,7 +51902,6 @@ OMIM:162095 a owl:Class ; PMID:22848377, PMID:7835084, PMID:9776412 ; - oboInOwl:hasDbXref UMLS:C1335278 ; oboInOwl:hasExactSynonym "PTN", "heparin-binding growth factor 8", "neurite growth-promoting factor 1", @@ -50662,7 +51909,9 @@ OMIM:162095 a owl:Class ; "pleiotrophin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5764 ; - skos:exactMatch HGNC_symbol:PTN ; + skos:exactMatch UMLS:C1335278, + HGNC:9630, + HGNC_symbol:PTN ; biolink:category biolink:Gene . OMIM:162096 a owl:Class ; @@ -50677,14 +51926,15 @@ OMIM:162096 a owl:Class ; PMID:2025291, PMID:7835084, PMID:8406506 ; - oboInOwl:hasDbXref UMLS:C1334498 ; oboInOwl:hasExactSynonym "MDK", "midgestation and kidney protein", "midkine", "neurite growth-promoting factor 2, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4192 ; - skos:exactMatch HGNC_symbol:MDK ; + skos:exactMatch UMLS:C1334498, + HGNC:6972, + HGNC_symbol:MDK ; biolink:category biolink:Gene . OMIM:162150 a owl:Class ; @@ -50705,7 +51955,6 @@ OMIM:162150 a owl:Class ; PMID:9207799 ; RO:0002525 CHR:9606chr5q15 ; RO:0003303 OMIM:612362 ; - oboInOwl:hasDbXref UMLS:C1418388 ; oboInOwl:hasExactSynonym "PCSK1", "neuroendocrine convertase 1", "prohormone convertase 1", @@ -50714,7 +51963,9 @@ OMIM:162150 a owl:Class ; "proprotein convertase, subtilisin/kexin-type, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5122 ; - skos:exactMatch HGNC_symbol:PCSK1 ; + skos:exactMatch UMLS:C1418388, + HGNC:8743, + HGNC_symbol:PCSK1 ; biolink:category biolink:Gene . OMIM:162151 a owl:Class ; @@ -50728,14 +51979,15 @@ OMIM:162151 a owl:Class ; PMID:9192619, PMID:9452465, PMID:9467579 ; - oboInOwl:hasDbXref UMLS:C1418389 ; oboInOwl:hasExactSynonym "PCSK2", "neuroendocrine convertase 2", "proprotein convertase pc2", "proprotein convertase, subtilisin/kexin-type, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5126 ; - skos:exactMatch HGNC_symbol:PCSK2 ; + skos:exactMatch UMLS:C1418389, + HGNC:8744, + HGNC_symbol:PCSK2 ; biolink:category biolink:Gene . OMIM:162210 a owl:Class ; @@ -50746,9 +51998,9 @@ OMIM:162210 a owl:Class ; PMID:23812910, PMID:9132486, PMID:9529361 ; - oboInOwl:hasDbXref UMLS:C1834235 ; oboInOwl:hasExactSynonym "fsnf", "neurofibromatosis, familial spinal" ; + skos:exactMatch UMLS:C1834235 ; biolink:category biolink:Disease . OMIM:162220 a owl:Class ; @@ -50776,59 +52028,61 @@ OMIM:162230 a owl:Class ; PMID:9931323 ; RO:0002525 CHR:9606chr22q12.2 ; RO:0003303 OMIM:616924 ; - oboInOwl:hasDbXref UMLS:C1417666 ; oboInOwl:hasExactSynonym "NEFH", "neurofilament protein, heavy polypeptide", "nfh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4744 ; - skos:exactMatch HGNC_symbol:NEFH ; + skos:exactMatch UMLS:C1417666, + HGNC:7737, + HGNC_symbol:NEFH ; biolink:category biolink:Gene . OMIM:162240 a owl:Class ; rdfs:label "neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome" ; IAO:0000142 PMID:6139138 ; - oboInOwl:hasDbXref UMLS:C1834232 ; oboInOwl:hasExactSynonym "duodenal carcinoid syndrome", "neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome", - "npdc syndrome" . + "npdc syndrome" ; + skos:exactMatch UMLS:C1834232 . OMIM:162250 a owl:Class ; rdfs:label "NEFM" ; IAO:0000142 PMID:3036526, PMID:3608989 ; - oboInOwl:hasDbXref UMLS:C1826396 ; oboInOwl:hasExactSynonym "NEFM", "neurofilament 3", "neurofilament protein, medium polypeptide", "nfm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4741 ; - skos:exactMatch HGNC_symbol:NEFM ; + skos:exactMatch UMLS:C1826396, + HGNC:7734, + HGNC_symbol:NEFM ; biolink:category biolink:Gene . OMIM:162260 a owl:Class ; rdfs:label "neurofibromatosis, iia iii, mixed central and peripheral" ; IAO:0000142 PMID:4957904, PMID:7057963 ; - oboInOwl:hasDbXref UMLS:C1834231, - UMLS:C2931480 ; oboInOwl:hasExactSynonym "NF3A", "neurofibromas, palmar cutaneous", "neurofibromatosis, iia iii, mixed central and peripheral", "neurofibromatosis, iia iii, of riccardi", "neurofibromatosis, iia iii, riccardi iia", - "nf 3" . + "nf 3" ; + skos:exactMatch UMLS:C1834231, + UMLS:C2931480 . OMIM:162270 a owl:Class ; rdfs:label "neurofibromatosis, iia iv, of riccardi" ; IAO:0000142 PMID:6816509 ; - oboInOwl:hasDbXref UMLS:C0220695 ; oboInOwl:hasExactSynonym "NF4", "neurofibromatosis, iia iv, of riccardi", "neurofibromatosis, atypical", "neurofibromatosis, variant form(s) of", - "nf 4" . + "nf 4" ; + skos:exactMatch UMLS:C0220695 . OMIM:162280 a owl:Class ; rdfs:label "NEFL" ; @@ -50866,14 +52120,15 @@ OMIM:162280 a owl:Class ; PMID:9763415 ; RO:0002525 CHR:9606chr8p21.2 ; RO:0003303 OMIM:607684 ; - oboInOwl:hasDbXref UMLS:C1417668 ; oboInOwl:hasExactSynonym "NEFL", "neurofilament protein, light chain", "neurofilament protein, light polypeptide", "nf68" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4747 ; - skos:exactMatch HGNC_symbol:NEFL ; + skos:exactMatch UMLS:C1417668, + HGNC:7739, + HGNC_symbol:NEFL ; biolink:category biolink:Gene . OMIM:162300 a owl:Class ; @@ -50913,7 +52168,6 @@ OMIM:162300 a owl:Class ; PMID:9435410, PMID:9620546, PMID:980061 ; - oboInOwl:hasDbXref UMLS:C0025269 ; oboInOwl:hasExactSynonym "MEN2B", "men 2b", "mucosal neuroma syndrome", @@ -50922,6 +52176,7 @@ OMIM:162300 a owl:Class ; "neuromata, mucosal, with endocrine tumors", "wagenmann-froboese syndrome" ; rdfs:subClassOf OMIMPS:131100 ; + skos:exactMatch UMLS:C0025269 ; biolink:category biolink:Disease . OMIM:162320 a owl:Class ; @@ -50937,8 +52192,6 @@ OMIM:162320 a owl:Class ; PMID:30532001, PMID:9482938, PMID:9537322 ; - oboInOwl:hasDbXref UMLS:C0038585, - UMLS:C1420563 ; oboInOwl:hasExactSynonym "TAC1", "neurokinin 2", "neurokinin a", @@ -50950,7 +52203,10 @@ OMIM:162320 a owl:Class ; "tachykinin 2, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6863 ; - skos:exactMatch HGNC_symbol:TAC1 ; + skos:exactMatch UMLS:C0038585, + UMLS:C1420563, + HGNC:11517, + HGNC_symbol:TAC1 ; biolink:category biolink:Gene . OMIM:162321 a owl:Class ; @@ -50960,7 +52216,6 @@ OMIM:162321 a owl:Class ; PMID:2433692, PMID:2480781, PMID:2823146 ; - oboInOwl:hasDbXref UMLS:C1420566 ; oboInOwl:hasExactSynonym "TACR2", "neurokinin 2 receptor", "neurokinin a receptor", @@ -50968,7 +52223,9 @@ OMIM:162321 a owl:Class ; "tachykinin receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6865 ; - skos:exactMatch HGNC_symbol:TACR2 ; + skos:exactMatch UMLS:C1420566, + HGNC:11527, + HGNC_symbol:TACR2 ; biolink:category biolink:Gene . OMIM:162323 a owl:Class ; @@ -50984,14 +52241,15 @@ OMIM:162323 a owl:Class ; PMID:18276852, PMID:9537323, PMID:9541482 ; - oboInOwl:hasDbXref UMLS:C1420565 ; oboInOwl:hasExactSynonym "TACR1", "neurokinin 1 receptor", "substance p receptor", "tachykinin receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6869 ; - skos:exactMatch HGNC_symbol:TACR1 ; + skos:exactMatch UMLS:C1420565, + HGNC:11526, + HGNC_symbol:TACR1 ; biolink:category biolink:Gene . OMIM:162330 a owl:Class ; @@ -51003,9 +52261,6 @@ OMIM:162330 a owl:Class ; PMID:31615056 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:614839 ; - oboInOwl:hasDbXref UMLS:C1420564, - UMLS:C3553843, - UMLS:C4016274 ; oboInOwl:hasExactSynonym "TAC3", "neurokinin B", "neuromedin k", @@ -51014,7 +52269,11 @@ OMIM:162330 a owl:Class ; "tachykinin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6866 ; - skos:exactMatch HGNC_symbol:TAC3 ; + skos:exactMatch UMLS:C1420564, + UMLS:C3553843, + UMLS:C4016274, + HGNC:11521, + HGNC_symbol:TAC3 ; biolink:category biolink:Gene . OMIM:162332 a owl:Class ; @@ -51026,14 +52285,15 @@ OMIM:162332 a owl:Class ; PMID:7557266 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:614840 ; - oboInOwl:hasDbXref UMLS:C1420567 ; oboInOwl:hasExactSynonym "TACR3", "neurokinin 3 receptor", "neurokinin B receptor", "tachykinin receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6870 ; - skos:exactMatch HGNC_symbol:TACR3 ; + skos:exactMatch UMLS:C1420567, + HGNC:11528, + HGNC_symbol:TACR3 ; biolink:category biolink:Gene . OMIM:162340 a owl:Class ; @@ -51042,12 +52302,13 @@ OMIM:162340 a owl:Class ; PMID:2458345, PMID:26855425, PMID:7851890 ; - oboInOwl:hasDbXref UMLS:C1417740 ; oboInOwl:hasExactSynonym "NMB", "neuromedin B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4828 ; - skos:exactMatch HGNC_symbol:NMB ; + skos:exactMatch UMLS:C1417740, + HGNC:7842, + HGNC_symbol:NMB ; biolink:category biolink:Gene . OMIM:162341 a owl:Class ; @@ -51055,12 +52316,13 @@ OMIM:162341 a owl:Class ; IAO:0000142 PMID:16461928, PMID:1655761, PMID:1848080 ; - oboInOwl:hasDbXref UMLS:C1334884 ; oboInOwl:hasExactSynonym "NMBR", "neuromedin B receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4829 ; - skos:exactMatch HGNC_symbol:NMBR ; + skos:exactMatch UMLS:C1334884, + HGNC:7843, + HGNC_symbol:NMBR ; biolink:category biolink:Gene . OMIM:162360 a owl:Class ; @@ -51071,14 +52333,15 @@ OMIM:162360 a owl:Class ; PMID:1528853, PMID:1729708, PMID:8563167 ; - oboInOwl:hasDbXref UMLS:C1417722 ; oboInOwl:hasExactSynonym "NHLH1", "hen1", "nescient helix loop helix 1", "nscl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4807 ; - skos:exactMatch HGNC_symbol:NHLH1 ; + skos:exactMatch UMLS:C1417722, + HGNC:7817, + HGNC_symbol:NHLH1 ; biolink:category biolink:Gene . OMIM:162361 a owl:Class ; @@ -51090,21 +52353,22 @@ OMIM:162361 a owl:Class ; PMID:9090387 ; RO:0002525 CHR:9606chr1p13.1 ; RO:0003303 OMIM:619755 ; - oboInOwl:hasDbXref UMLS:C1417723 ; oboInOwl:hasExactSynonym "NHLH2", "hen2", "nescient helix loop helix 2", "neuronal scl-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4808 ; - skos:exactMatch HGNC_symbol:NHLH2 ; + skos:exactMatch UMLS:C1417723, + HGNC:7818, + HGNC_symbol:NHLH2 ; biolink:category biolink:Gene . OMIM:162370 a owl:Class ; rdfs:label "neuropathy, congenital, with arthrogryposis multiplex" ; IAO:0000142 PMID:4364274 ; - oboInOwl:hasDbXref UMLS:C1834206 ; oboInOwl:hasExactSynonym "neuropathy, congenital, with arthrogryposis multiplex" ; + skos:exactMatch UMLS:C1834206 ; biolink:category biolink:Disease . OMIM:162375 a owl:Class ; @@ -51114,8 +52378,8 @@ OMIM:162375 a owl:Class ; OMIM:162380 a owl:Class ; rdfs:label "neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance" ; IAO:0000142 PMID:6314180 ; - oboInOwl:hasDbXref UMLS:C1834205 ; - oboInOwl:hasExactSynonym "neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance" . + oboInOwl:hasExactSynonym "neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance" ; + skos:exactMatch UMLS:C1834205 . OMIM:162500 a owl:Class ; rdfs:label "neuropathy, hereditary, with liability to pressure palsies" ; @@ -51177,18 +52441,18 @@ OMIM:162500 a owl:Class ; PMID:9447611, PMID:9703447, PMID:9973284 ; - oboInOwl:hasDbXref UMLS:C0393814 ; oboInOwl:hasExactSynonym "HNPP", "neuropathy, hereditary, with liability to pressure palsies", "polyneuropathy, familial recurrent", "tomaculous neuropathy" ; + skos:exactMatch UMLS:C0393814 ; biolink:category biolink:Disease . OMIM:162600 a owl:Class ; rdfs:label "neuropathy, with paraprotein 1n serum, cerebrospinal fluid and urine" ; IAO:0000142 PMID:5948502 ; - oboInOwl:hasDbXref UMLS:C1834180 ; - oboInOwl:hasExactSynonym "neuropathy, with paraprotein 1n serum, cerebrospinal fluid and urine" . + oboInOwl:hasExactSynonym "neuropathy, with paraprotein 1n serum, cerebrospinal fluid and urine" ; + skos:exactMatch UMLS:C1834180 . OMIM:162640 a owl:Class ; rdfs:label "NPY" ; @@ -51229,13 +52493,14 @@ OMIM:162640 a owl:Class ; PMID:9845072, PMID:9846584, PMID:9920351 ; - oboInOwl:hasDbXref UMLS:C1417815 ; oboInOwl:hasExactSynonym "NPY", "neuropeptide y", "y neuropeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4852 ; - skos:exactMatch HGNC_symbol:NPY ; + skos:exactMatch UMLS:C1417815, + HGNC:7955, + HGNC_symbol:NPY ; biolink:category biolink:Gene . OMIM:162641 a owl:Class ; @@ -51248,13 +52513,14 @@ OMIM:162641 a owl:Class ; PMID:8095935, PMID:9169127, PMID:9169155 ; - oboInOwl:hasDbXref UMLS:C1417816 ; oboInOwl:hasExactSynonym "NPY1R", "neuropeptide y receptor y1", "npyr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4886 ; - skos:exactMatch HGNC_symbol:NPY1R ; + skos:exactMatch UMLS:C1417816, + HGNC:7956, + HGNC_symbol:NPY1R ; biolink:category biolink:Gene . OMIM:162642 a owl:Class ; @@ -51263,12 +52529,13 @@ OMIM:162642 a owl:Class ; PMID:7592910, PMID:8975716, PMID:9169155 ; - oboInOwl:hasDbXref UMLS:C1417817 ; oboInOwl:hasExactSynonym "NPY2R", "neuropeptide y receptor y2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4887 ; - skos:exactMatch HGNC_symbol:NPY2R ; + skos:exactMatch UMLS:C1417817, + HGNC:7957, + HGNC_symbol:NPY2R ; biolink:category biolink:Gene . OMIM:162650 a owl:Class ; @@ -51281,12 +52548,13 @@ OMIM:162650 a owl:Class ; PMID:3670596, PMID:8954810, PMID:9530155 ; - oboInOwl:hasDbXref UMLS:C1417869 ; oboInOwl:hasExactSynonym "NTS", "neurotensin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4922 ; - skos:exactMatch HGNC_symbol:NTS ; + skos:exactMatch UMLS:C1417869, + HGNC:8038, + HGNC_symbol:NTS ; biolink:category biolink:Gene . OMIM:162651 a owl:Class ; @@ -51299,12 +52567,13 @@ OMIM:162651 a owl:Class ; PMID:8381365, PMID:8719037, PMID:8995438 ; - oboInOwl:hasDbXref UMLS:C1417870 ; oboInOwl:hasExactSynonym "NTSR1", "neurotensin receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4923 ; - skos:exactMatch HGNC_symbol:NTSR1 ; + skos:exactMatch UMLS:C1417870, + HGNC:8039, + HGNC_symbol:NTSR1 ; biolink:category biolink:Gene . OMIM:162660 a owl:Class ; @@ -51327,13 +52596,14 @@ OMIM:162660 a owl:Class ; PMID:7991545, PMID:8242090, PMID:8841198 ; - oboInOwl:hasDbXref UMLS:C1334907 ; oboInOwl:hasExactSynonym "NTF3", "neurotrophic factor 3", "neurotrophin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4908 ; - skos:exactMatch HGNC_symbol:NTF3 ; + skos:exactMatch UMLS:C1334907, + HGNC:8023, + HGNC_symbol:NTF3 ; biolink:category biolink:Gene . OMIM:162661 a owl:Class ; @@ -51358,9 +52628,9 @@ OMIM:162700 a owl:Class ; PMID:795298, PMID:8336256, PMID:980093 ; - oboInOwl:hasDbXref UMLS:C3665676 ; oboInOwl:hasExactSynonym "leukopenia, benign familial", "neutropenia, chronic familial" ; + skos:exactMatch UMLS:C3665676 ; biolink:category biolink:Disease . OMIM:162800 a owl:Class ; @@ -51382,9 +52652,9 @@ OMIM:162800 a owl:Class ; PMID:6753968, PMID:7453561, PMID:8989458 ; - oboInOwl:hasDbXref UMLS:C0221023 ; oboInOwl:hasExactSynonym "cyclic hematopoiesis", "cyclic neutropenia" ; + skos:exactMatch UMLS:C0221023 ; biolink:category biolink:Disease . OMIM:162815 a owl:Class ; @@ -51393,14 +52663,15 @@ OMIM:162815 a owl:Class ; PMID:2049091, PMID:2312733, PMID:2332502 ; - oboInOwl:hasDbXref UMLS:C1332127 ; oboInOwl:hasExactSynonym "NAZC", "azurocidin", "cationic antimicrobial protein-37", "neutrophil azurocidin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:566 ; - skos:exactMatch HGNC_symbol:AZU1 ; + skos:exactMatch UMLS:C1332127, + HGNC:913, + HGNC_symbol:AZU1 ; biolink:category biolink:Gene . OMIM:162820 a owl:Class ; @@ -51413,8 +52684,8 @@ OMIM:162830 a owl:Class ; rdfs:label "neutrophilia, hereditary" ; IAO:0000142 PMID:19620628, PMID:4825608 ; - oboInOwl:hasDbXref UMLS:C0543669 ; oboInOwl:hasExactSynonym "neutrophilia, hereditary" ; + skos:exactMatch UMLS:C0543669 ; biolink:category biolink:Disease . OMIM:162860 a owl:Class ; @@ -51427,7 +52698,6 @@ OMIM:162860 a owl:Class ; PMID:20194726, PMID:25359465, PMID:5552408 ; - oboInOwl:hasDbXref UMLS:C1824675 ; oboInOwl:hasExactSynonym "CD177", "cd177 antigen", "hna2a", @@ -51435,7 +52705,9 @@ OMIM:162860 a owl:Class ; "prv1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57126 ; - skos:exactMatch HGNC_symbol:CD177 ; + skos:exactMatch UMLS:C1824675, + HGNC:30072, + HGNC_symbol:CD177 ; biolink:category biolink:Gene . OMIM:162870 a owl:Class ; @@ -51445,15 +52717,15 @@ OMIM:162870 a owl:Class ; OMIM:162880 a owl:Class ; rdfs:label "neutrophil-specific antigen: nd1" ; IAO:0000142 PMID:329857 ; - oboInOwl:hasDbXref UMLS:C1834173 ; - oboInOwl:hasExactSynonym "neutrophil-specific antigen: nd1" . + oboInOwl:hasExactSynonym "neutrophil-specific antigen: nd1" ; + skos:exactMatch UMLS:C1834173 . OMIM:162890 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:87023 ; - oboInOwl:hasDbXref UMLS:C1834172 ; oboInOwl:hasExactSynonym "neutrophil-specific antigen: ne1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1834172 ; biolink:category biolink:Gene . OMIM:162900 a owl:Class ; @@ -51469,13 +52741,13 @@ OMIM:162900 a owl:Class ; PMID:24129065, PMID:25561463, PMID:7526210 ; - oboInOwl:hasDbXref UMLS:C0334082, - UMLS:C0343114, - UMLS:C3854181 ; oboInOwl:hasExactSynonym "nevus sebaceous", "nevus, epidermal", "nevus, keratinocytic, nonepidermolytic", "nevus, woolly hair" ; + skos:exactMatch UMLS:C0334082, + UMLS:C0343114, + UMLS:C3854181 ; biolink:category biolink:Disease . OMIM:163000 a owl:Class ; @@ -51491,18 +52763,18 @@ OMIM:163000 a owl:Class ; PMID:3978851, PMID:5681167, PMID:6716409 ; - oboInOwl:hasDbXref UMLS:C0340803 ; oboInOwl:hasExactSynonym "CMC", "capillary malformations", "capillary malformations, congenital", "nevi flammei, familial multiple", "port-wine stain" ; + skos:exactMatch UMLS:C0340803 ; biolink:category biolink:Disease . OMIM:163050 a owl:Class ; rdfs:label "nevus anemicus" ; - oboInOwl:hasDbXref UMLS:C0265982 ; - oboInOwl:hasExactSynonym "nevus anemicus" . + oboInOwl:hasExactSynonym "nevus anemicus" ; + skos:exactMatch UMLS:C0265982 . OMIM:163100 a owl:Class ; rdfs:label "nevus flammeus of nape of neck" ; @@ -51510,10 +52782,10 @@ OMIM:163100 a owl:Class ; PMID:1576757, PMID:3978851, PMID:4915051 ; - oboInOwl:hasDbXref UMLS:C2697447 ; oboInOwl:hasExactSynonym "erythema nuchae", "nevus flammeus of nape of neck", "unna nevus" ; + skos:exactMatch UMLS:C2697447 ; biolink:category biolink:Disease . OMIM:163400 a owl:Class ; @@ -51526,9 +52798,9 @@ OMIM:163400 a owl:Class ; PMID:5445413, PMID:675214, PMID:9511977 ; - oboInOwl:hasDbXref UMLS:C0432231 ; oboInOwl:hasExactSynonym "mesomelic dysplasia, nievergelt iia", "nievergelt syndrome" ; + skos:exactMatch UMLS:C0432231 ; biolink:category biolink:Disease . OMIM:163500 a owl:Class ; @@ -51538,20 +52810,20 @@ OMIM:163500 a owl:Class ; PMID:1789082, PMID:8004102, PMID:8075643 ; - oboInOwl:hasDbXref UMLS:C1876182 ; oboInOwl:hasExactSynonym "CSNBAD2", "night blindness, congenital stationary, autosomal dominant 2", "night blindness, congenital stationary, rambusch iia" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C1876182 ; biolink:category biolink:Disease . OMIM:163600 a owl:Class ; rdfs:label "nipples inverted" ; IAO:0000142 PMID:18151159, PMID:436331 ; - oboInOwl:hasDbXref UMLS:C0269269 ; oboInOwl:hasExactSynonym "mammillae invertitae", - "nipples inverted" . + "nipples inverted" ; + skos:exactMatch UMLS:C0269269 . OMIM:163700 a owl:Class ; rdfs:label "nipples, supernumerary" ; @@ -51563,11 +52835,11 @@ OMIM:163700 a owl:Class ; PMID:9272160, PMID:9809822, PMID:991442 ; - oboInOwl:hasDbXref UMLS:C0266011 ; oboInOwl:hasExactSynonym "accessory nipples", "nipples, supernumerary", "polymastia", "polythelia, familial" ; + skos:exactMatch UMLS:C0266011 ; biolink:category biolink:Disease . OMIM:163728 a owl:Class ; @@ -51641,11 +52913,6 @@ OMIM:163729 a owl:Class ; PMID:9894802, PMID:9915975 ; RO:0002525 CHR:9606chr7q36.1 ; - oboInOwl:hasDbXref UMLS:C1328053, - UMLS:C1834153, - UMLS:C1834154, - UMLS:C1834155, - UMLS:C3149657 ; oboInOwl:hasExactSynonym "NOS3", "alzheimer disease, late-onset, susceptibility to", "coronary artery spasm 1, susceptibility to", @@ -51655,7 +52922,13 @@ OMIM:163729 a owl:Class ; "nitric oxide synthase, endothelial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4846 ; - skos:exactMatch HGNC_symbol:NOS3 ; + skos:exactMatch UMLS:C1328053, + UMLS:C1834153, + UMLS:C1834154, + UMLS:C1834155, + UMLS:C3149657, + HGNC:7876, + HGNC_symbol:NOS3 ; biolink:category biolink:Gene . OMIM:163731 a owl:Class ; @@ -51693,14 +52966,15 @@ OMIM:163731 a owl:Class ; PMID:8943269, PMID:9111048, PMID:9844020 ; - oboInOwl:hasDbXref UMLS:C1417759 ; oboInOwl:hasExactSynonym "NOS1", "nitric oxide synthase 1", "nitric oxide synthase, neuronal", "nitric oxide synthase, penile neuronal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4842 ; - skos:exactMatch HGNC_symbol:NOS1 ; + skos:exactMatch UMLS:C1417759, + HGNC:7872, + HGNC_symbol:NOS1 ; biolink:category biolink:Gene . OMIM:163800 a owl:Class ; @@ -51720,7 +52994,6 @@ OMIM:163800 a owl:Class ; PMID:8291288, PMID:8750801, PMID:971377 ; - oboInOwl:hasDbXref UMLS:C1834144 ; oboInOwl:hasExactSynonym "SSS2", "atrial fibrillation with bradyarrhythmia", "sick sinus syndrome 2", @@ -51728,14 +53001,15 @@ OMIM:163800 a owl:Class ; "sinus bradycardia syndrome, familial, autosomal dominant", "sinus node disease, familial, autosomal dominant" ; rdfs:subClassOf OMIMPS:608567 ; + skos:exactMatch UMLS:C1834144 ; biolink:category biolink:Disease . OMIM:163850 a owl:Class ; rdfs:label "noduli cutanei, multiple, with urinary tract abnormalities" ; IAO:0000142 PMID:13897602, PMID:5483657 ; - oboInOwl:hasDbXref UMLS:C1834143 ; - oboInOwl:hasExactSynonym "noduli cutanei, multiple, with urinary tract abnormalities" . + oboInOwl:hasExactSynonym "noduli cutanei, multiple, with urinary tract abnormalities" ; + skos:exactMatch UMLS:C1834143 . OMIM:163890 a owl:Class ; rdfs:label "SNCA" ; @@ -51876,17 +53150,18 @@ OMIM:163890 a owl:Class ; PMID:9827625 ; RO:0002525 CHR:9606chr4q22.1 ; RO:0003303 OMIM:605543 ; - oboInOwl:hasDbXref UMLS:C0752347, - UMLS:C1420276, - UMLS:C1854182, - UMLS:C1868595 ; oboInOwl:hasExactSynonym "SNCA", "non-a-beta component of alzheimer disease amyloid, precursor of", "non-a4 component of amyloid, precursor of", "synuclein, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6622 ; - skos:exactMatch HGNC_symbol:SNCA ; + skos:exactMatch UMLS:C0752347, + UMLS:C1420276, + UMLS:C1854182, + UMLS:C1868595, + HGNC:11138, + HGNC_symbol:SNCA ; biolink:category biolink:Gene . OMIM:163900 a owl:Class ; @@ -51909,7 +53184,6 @@ OMIM:163905 a owl:Class ; PMID:2922262, PMID:2922595, PMID:8661151 ; - oboInOwl:hasDbXref UMLS:C1333908 ; oboInOwl:hasExactSynonym "HMGB1", "amphoterin", "chromosomal protein, nonhistone, hmg1", @@ -51918,7 +53192,9 @@ OMIM:163905 a owl:Class ; "nonhistone chromosomal protein hmg1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3146 ; - skos:exactMatch HGNC_symbol:HMGB1 ; + skos:exactMatch UMLS:C1333908, + HGNC:4983, + HGNC_symbol:HMGB1 ; biolink:category biolink:Gene . OMIM:163906 a owl:Class ; @@ -51927,7 +53203,6 @@ OMIM:163906 a owl:Class ; PMID:16630816, PMID:19890330, PMID:8824816 ; - oboInOwl:hasDbXref UMLS:C1333909 ; oboInOwl:hasExactSynonym "HMGB2", "chromosomal protein, nonhistone, hmg2", "high mobility group box 2", @@ -51935,7 +53210,9 @@ OMIM:163906 a owl:Class ; "nonhistone chromosomal protein hmg2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3148 ; - skos:exactMatch HGNC_symbol:HMGB2 ; + skos:exactMatch UMLS:C1333909, + HGNC:5000, + HGNC_symbol:HMGB2 ; biolink:category biolink:Gene . OMIM:163910 a owl:Class ; @@ -51947,7 +53224,6 @@ OMIM:163910 a owl:Class ; PMID:3441004, PMID:3754870, PMID:3782108 ; - oboInOwl:hasDbXref UMLS:C1333913 ; oboInOwl:hasExactSynonym "HMGN2", "chromosomal protein, nonhistone, hmg17", "high mobility group nucleosomal binding protein 2", @@ -51955,7 +53231,9 @@ OMIM:163910 a owl:Class ; "nonhistone chromosomal protein hmg17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3151 ; - skos:exactMatch HGNC_symbol:HMGN2 ; + skos:exactMatch UMLS:C1333913, + HGNC:4986, + HGNC_symbol:HMGN2 ; biolink:category biolink:Gene . OMIM:163920 a owl:Class ; @@ -51966,7 +53244,6 @@ OMIM:163920 a owl:Class ; PMID:22009741, PMID:2563381, PMID:8047885 ; - oboInOwl:hasDbXref UMLS:C1333912 ; oboInOwl:hasExactSynonym "HMGN1", "chromosomal protein, nonhistone, hmg14", "high mobility group nucleosomal binding protein 1", @@ -51974,7 +53251,9 @@ OMIM:163920 a owl:Class ; "nonhistone chromosomal protein hmg14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3150 ; - skos:exactMatch HGNC_symbol:HMGN1 ; + skos:exactMatch UMLS:C1333912, + HGNC:4984, + HGNC_symbol:HMGN1 ; biolink:category biolink:Gene . OMIM:163955 a owl:Class ; @@ -52002,14 +53281,15 @@ OMIM:163970 a owl:Class ; PMID:9603188 ; RO:0002525 CHR:9606chr16q12.2 ; RO:0003303 OMIM:604715 ; - oboInOwl:hasDbXref UMLS:C1420212 ; oboInOwl:hasExactSynonym "SLC6A2", "neurotransmitter transporter, noradrenaline", "norepinephrine transporter protein 1", "solute carrier family 6 (neurotransmitter transporter, noradrenaline), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6530 ; - skos:exactMatch HGNC_symbol:SLC6A2 ; + skos:exactMatch UMLS:C1420212, + HGNC:11048, + HGNC_symbol:SLC6A2 ; biolink:category biolink:Gene . OMIM:163980 a owl:Class ; @@ -52023,7 +53303,6 @@ OMIM:163980 a owl:Class ; PMID:2596823, PMID:2612212, PMID:3220478 ; - oboInOwl:hasDbXref UMLS:C1413309 ; oboInOwl:hasExactSynonym "CEACAM6", "carcinoembryonic antigen-related cell adhesion molecule 6", "cea cell adhesion molecule 6", @@ -52032,15 +53311,17 @@ OMIM:163980 a owl:Class ; "normal crossreacting antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4680 ; - skos:exactMatch HGNC_symbol:CEACAM6 ; + skos:exactMatch UMLS:C1413309, + HGNC:1818, + HGNC_symbol:CEACAM6 ; biolink:category biolink:Gene . OMIM:164000 a owl:Class ; rdfs:label "nose, anomalous shape of" ; IAO:0000142 PMID:4003439 ; - oboInOwl:hasDbXref UMLS:C1834118 ; oboInOwl:hasExactSynonym "nose, anomalous shape of", - "potato nose" . + "potato nose" ; + skos:exactMatch UMLS:C1834118 . OMIM:164005 a owl:Class ; rdfs:label "NFIX" ; @@ -52063,9 +53344,6 @@ OMIM:164005 a owl:Class ; PMID:9717599 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:602535 ; - oboInOwl:hasDbXref UMLS:C0265211, - UMLS:C1417707, - UMLS:C3553660 ; oboInOwl:hasExactSynonym "NFIX", "ccaat-binding transcription factor", "nf1a", @@ -52073,7 +53351,11 @@ OMIM:164005 a owl:Class ; "nuclear factor i/x" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4784 ; - skos:exactMatch HGNC_symbol:NFIX ; + skos:exactMatch UMLS:C0265211, + UMLS:C1417707, + UMLS:C3553660, + HGNC:7788, + HGNC_symbol:NFIX ; biolink:category biolink:Gene . OMIM:164008 a owl:Class ; @@ -52111,8 +53393,6 @@ OMIM:164008 a owl:Class ; PMID:9865694 ; RO:0002525 CHR:9606chr14q13.2 ; RO:0003303 OMIM:612132 ; - oboInOwl:hasDbXref UMLS:C1334877, - UMLS:C2677481 ; oboInOwl:hasExactSynonym "NFKBIA", "i-kappa-b-alpha", "inhibitor of kappa light chain gene enhancer 1n B cells, alpha", @@ -52123,7 +53403,10 @@ OMIM:164008 a owl:Class ; "nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4792 ; - skos:exactMatch HGNC_symbol:NFKBIA ; + skos:exactMatch UMLS:C1334877, + UMLS:C2677481, + HGNC:7797, + HGNC_symbol:NFKBIA ; biolink:category biolink:Gene . OMIM:164009 a owl:Class ; @@ -52140,14 +53423,15 @@ OMIM:164009 a owl:Class ; PMID:9288109 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:612376 ; - oboInOwl:hasDbXref UMLS:C1334911, - UMLS:C1834115 ; oboInOwl:hasExactSynonym "NUMA1", "nuclear mitotic apparatus protein 1", "numa1/rara fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4926 ; - skos:exactMatch HGNC_symbol:NUMA1 ; + skos:exactMatch UMLS:C1334911, + UMLS:C1834115, + HGNC:8059, + HGNC_symbol:NUMA1 ; biolink:category biolink:Gene . OMIM:164011 a owl:Class ; @@ -52238,8 +53522,6 @@ OMIM:164011 a owl:Class ; PMID:9895331 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:616576 ; - oboInOwl:hasDbXref UMLS:C1417708, - UMLS:C4225277 ; oboInOwl:hasExactSynonym "NFKB1", "nfkb p105", "nfkb p50", @@ -52248,7 +53530,10 @@ OMIM:164011 a owl:Class ; "transcription factor nfkb1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4790 ; - skos:exactMatch HGNC_symbol:NFKB1 ; + skos:exactMatch UMLS:C1417708, + UMLS:C4225277, + HGNC:7794, + HGNC_symbol:NFKB1 ; biolink:category biolink:Gene . OMIM:164012 a owl:Class ; @@ -52274,8 +53559,6 @@ OMIM:164012 a owl:Class ; PMID:9895331 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:615577 ; - oboInOwl:hasDbXref UMLS:C0812286, - UMLS:C3809991 ; oboInOwl:hasExactSynonym "NFKB2", "lymphocyte translocation chromosome 10", "nfkb, p100 subunit", @@ -52287,18 +53570,22 @@ OMIM:164012 a owl:Class ; "transcription factor nfkb2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4791 ; - skos:exactMatch HGNC_symbol:NFKB2 ; + skos:exactMatch UMLS:C0812286, + UMLS:C3809991, + HGNC:7795, + HGNC_symbol:NFKB2 ; biolink:category biolink:Gene . OMIM:164013 a owl:Class ; rdfs:label "NFRKB" ; IAO:0000142 PMID:1427843 ; - oboInOwl:hasDbXref UMLS:C1417713 ; oboInOwl:hasExactSynonym "NFRKB", "nuclear factor related to kappa-b binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4798 ; - skos:exactMatch HGNC_symbol:NFRKB ; + skos:exactMatch UMLS:C1417713, + HGNC:7802, + HGNC_symbol:NFRKB ; biolink:category biolink:Gene . OMIM:164014 a owl:Class ; @@ -52332,9 +53619,6 @@ OMIM:164014 a owl:Class ; PMID:9865694 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:618287 ; - oboInOwl:hasDbXref UMLS:C1335610, - UMLS:C2986382, - UMLS:C4748997 ; oboInOwl:hasExactSynonym "RELA", "nfkb, p65 subunit", "nuclear factor kappa-b, subunit 3", @@ -52345,7 +53629,11 @@ OMIM:164014 a owl:Class ; "v-rel avian reticuloendotheliosis viral oncogene homolog a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5970 ; - skos:exactMatch HGNC_symbol:RELA ; + skos:exactMatch UMLS:C1335610, + UMLS:C2986382, + UMLS:C4748997, + HGNC:9955, + HGNC_symbol:RELA ; biolink:category biolink:Gene . OMIM:164016 a owl:Class ; @@ -52372,14 +53660,15 @@ OMIM:164017 a owl:Class ; PMID:8521471 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:615426 ; - oboInOwl:hasDbXref UMLS:C1415634 ; oboInOwl:hasExactSynonym "HNRNPA1", "heterogeneous nuclear ribonucleoprotein a1", "hnrpa1", "nuclear ribonucleoprotein particle a1 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3178 ; - skos:exactMatch HGNC_symbol:HNRNPA1 ; + skos:exactMatch UMLS:C1415634, + HGNC:5031, + HGNC_symbol:HNRNPA1 ; biolink:category biolink:Gene . OMIM:164018 a owl:Class ; @@ -52400,7 +53689,6 @@ OMIM:164020 a owl:Class ; PMID:2587210, PMID:3110598, PMID:3457372 ; - oboInOwl:hasDbXref UMLS:C1415637 ; oboInOwl:hasExactSynonym "HNRNPC", "heterogeneous nuclear ribonucleoprotein c", "hnrpc", @@ -52408,13 +53696,15 @@ OMIM:164020 a owl:Class ; "nuclear ribonucleoprotein particle c2 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3183 ; - skos:exactMatch HGNC_symbol:HNRNPC ; + skos:exactMatch UMLS:C1415637, + HGNC:5035, + HGNC_symbol:HNRNPC ; biolink:category biolink:Gene . OMIM:164021 a owl:Class ; IAO:0100001 OMIM:603083 ; - oboInOwl:hasDbXref UMLS:C1834113 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1834113 . OMIM:164022 a owl:Class ; IAO:0100001 OMIM:300199 ; @@ -52427,7 +53717,6 @@ OMIM:164031 a owl:Class ; PMID:3422591, PMID:8088812, PMID:8419402 ; - oboInOwl:hasDbXref UMLS:C1417754 ; oboInOwl:hasExactSynonym "NOP2", "nucleolar antigen p120", "nucleolar protein 1", @@ -52435,7 +53724,9 @@ OMIM:164031 a owl:Class ; "proliferating cell nucleolar protein p120" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4839 ; - skos:exactMatch HGNC_symbol:NOP2 ; + skos:exactMatch UMLS:C1417754, + HGNC:7867, + HGNC_symbol:NOP2 ; biolink:category biolink:Gene . OMIM:164035 a owl:Class ; @@ -52454,13 +53745,14 @@ OMIM:164035 a owl:Class ; PMID:2394707, PMID:2737305, PMID:8065311 ; - oboInOwl:hasDbXref UMLS:C1417613 ; oboInOwl:hasExactSynonym "NCL", "c23", "nucleolin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4691 ; - skos:exactMatch HGNC_symbol:NCL ; + skos:exactMatch UMLS:C1417613, + HGNC:7667, + HGNC_symbol:NCL ; biolink:category biolink:Gene . OMIM:164040 a owl:Class ; @@ -52487,9 +53779,6 @@ OMIM:164040 a owl:Class ; PMID:8562957 ; RO:0002525 CHR:9606chr5q35.1 ; RO:0003303 OMIM:601626 ; - oboInOwl:hasDbXref UMLS:C1334894, - UMLS:C2986382, - UMLS:C4015936 ; oboInOwl:hasExactSynonym "NPM1", "npm1/alk fusion gene", "nucleolar phosphoprotein b23", @@ -52498,7 +53787,11 @@ OMIM:164040 a owl:Class ; "numatrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4869 ; - skos:exactMatch HGNC_symbol:NPM1 ; + skos:exactMatch UMLS:C1334894, + UMLS:C2986382, + UMLS:C4015936, + HGNC:7910, + HGNC_symbol:NPM1 ; biolink:category biolink:Gene . OMIM:164050 a owl:Class ; @@ -52523,14 +53816,15 @@ OMIM:164050 a owl:Class ; PMID:9737781 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:613179 ; - oboInOwl:hasDbXref UMLS:C1417772 ; oboInOwl:hasExactSynonym "PNP", "nucleoside phosphorylase", "purine nucleoside phosphorylase", "purine-nucleoside:orthophosphate ribosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4860 ; - skos:exactMatch HGNC_symbol:PNP ; + skos:exactMatch UMLS:C1417772, + HGNC:7892, + HGNC_symbol:PNP ; biolink:category biolink:Gene . OMIM:164060 a owl:Class ; @@ -52539,7 +53833,6 @@ OMIM:164060 a owl:Class ; PMID:18281699, PMID:18354397, PMID:8297347 ; - oboInOwl:hasDbXref UMLS:C1417595 ; oboInOwl:hasExactSynonym "NAP1L1", "nap1", "napi-related protein", @@ -52547,7 +53840,9 @@ OMIM:164060 a owl:Class ; "nucleosome assembly protein i-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4673 ; - skos:exactMatch HGNC_symbol:NAP1L1 ; + skos:exactMatch UMLS:C1417595, + HGNC:7637, + HGNC_symbol:NAP1L1 ; biolink:category biolink:Gene . OMIM:164150 a owl:Class ; @@ -52555,8 +53850,8 @@ OMIM:164150 a owl:Class ; IAO:0000142 PMID:13252428, PMID:14220465, PMID:4541735 ; - oboInOwl:hasDbXref UMLS:C1834078 ; oboInOwl:hasExactSynonym "nystagmus, hereditary vertical" ; + skos:exactMatch UMLS:C1834078 ; biolink:category biolink:Disease . OMIM:164160 a owl:Class ; @@ -52686,15 +53981,16 @@ OMIM:164160 a owl:Class ; PMID:9796811 ; RO:0002525 CHR:9606chr7q32.1 ; RO:0003303 OMIM:614962 ; - oboInOwl:hasDbXref UMLS:C1416825, - UMLS:C3554224, - UMLS:C4016279 ; oboInOwl:hasExactSynonym "LEP", "leptin", "obese, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3952 ; - skos:exactMatch HGNC_symbol:LEP ; + skos:exactMatch UMLS:C1416825, + UMLS:C3554224, + UMLS:C4016279, + HGNC:6553, + HGNC_symbol:LEP ; biolink:category biolink:Gene . OMIM:164170 a owl:Class ; @@ -52702,8 +53998,8 @@ OMIM:164170 a owl:Class ; IAO:0000142 PMID:13899711, PMID:4711807, PMID:690639 ; - oboInOwl:hasDbXref UMLS:C0339667 ; oboInOwl:hasExactSynonym "nystagmus, voluntary" ; + skos:exactMatch UMLS:C0339667 ; biolink:category biolink:Disease . OMIM:164175 a owl:Class ; @@ -52714,14 +54010,15 @@ OMIM:164175 a owl:Class ; PMID:2341156, PMID:7842742, PMID:8314572 ; - oboInOwl:hasDbXref UMLS:C1335233 ; oboInOwl:hasExactSynonym "POU2F1", "octamer-binding transcription factor 1", "otf, lymphoid-specific, 1", "pou domain, class 2, transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5451 ; - skos:exactMatch HGNC_symbol:POU2F1 ; + skos:exactMatch UMLS:C1335233, + HGNC:9212, + HGNC_symbol:POU2F1 ; biolink:category biolink:Gene . OMIM:164176 a owl:Class ; @@ -52733,14 +54030,15 @@ OMIM:164176 a owl:Class ; PMID:3399892, PMID:8943269, PMID:9115366 ; - oboInOwl:hasDbXref UMLS:C1335234 ; oboInOwl:hasExactSynonym "POU2F2", "octamer-binding transcription factor 2", "otf, lymphoid-specific, 2", "pou domain, class 2, transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5452 ; - skos:exactMatch HGNC_symbol:POU2F2 ; + skos:exactMatch UMLS:C1335234, + HGNC:9213, + HGNC_symbol:POU2F2 ; biolink:category biolink:Gene . OMIM:164177 a owl:Class ; @@ -52780,7 +54078,6 @@ OMIM:164177 a owl:Class ; PMID:8088794, PMID:8500351, PMID:9814708 ; - oboInOwl:hasDbXref UMLS:C1418768 ; oboInOwl:hasExactSynonym "POU5F1", "octamer-binding transcription factor 3", "octamer-binding transcription factor 4", @@ -52788,7 +54085,9 @@ OMIM:164177 a owl:Class ; "pou5f1/ews fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5460 ; - skos:exactMatch HGNC_symbol:POU5F1 ; + skos:exactMatch UMLS:C1418768, + HGNC:9221, + HGNC_symbol:POU5F1 ; biolink:category biolink:Gene . OMIM:164180 a owl:Class ; @@ -52806,25 +54105,25 @@ OMIM:164180 a owl:Class ; PMID:8986273, PMID:9383027, PMID:9677067 ; - oboInOwl:hasDbXref UMLS:C0796092 ; oboInOwl:hasExactSynonym "delleman syndrome", "occs", "oculocerebrocutaneous syndrome", - "orbital cyst with cerebral and focal dermal malformations" . + "orbital cyst with cerebral and focal dermal malformations" ; + skos:exactMatch UMLS:C0796092 . OMIM:164185 a owl:Class ; rdfs:label "ocular cicatricial pemphigoid" ; IAO:0000142 PMID:11730661, PMID:1763074 ; - oboInOwl:hasDbXref UMLS:C1282359 ; oboInOwl:hasExactSynonym "OCP", - "ocular cicatricial pemphigoid" . + "ocular cicatricial pemphigoid" ; + skos:exactMatch UMLS:C1282359 . OMIM:164190 a owl:Class ; rdfs:label "ocular dominance" ; IAO:0000142 PMID:697699 ; - oboInOwl:hasDbXref UMLS:C0422883 ; - oboInOwl:hasExactSynonym "ocular dominance" . + oboInOwl:hasExactSynonym "ocular dominance" ; + skos:exactMatch UMLS:C0422883 . OMIM:164200 a owl:Class ; rdfs:label "oculodentodigital dysplasia" ; @@ -52862,11 +54161,11 @@ OMIM:164200 a owl:Class ; PMID:8110413, PMID:8897047, PMID:9002680 ; - oboInOwl:hasDbXref UMLS:C0812437 ; oboInOwl:hasExactSynonym "ODDD", "oculodentodigital dysplasia", "oculodentoosseous dysplasia", "odd syndrome" ; + skos:exactMatch UMLS:C0812437 ; biolink:category biolink:Disease . OMIM:164220 a owl:Class ; @@ -52876,12 +54175,12 @@ OMIM:164220 a owl:Class ; PMID:18627062, PMID:19921646, PMID:3149147 ; - oboInOwl:hasDbXref UMLS:C1834038 ; oboInOwl:hasExactSynonym "SBRS", "blepharofacioskeletal syndrome", "cleft palate, hypotelorism, and hypospadias", "ocular hypotelorism, submucosal cleft palate, and hypospadias", "schilbach-rott syndrome" ; + skos:exactMatch UMLS:C1834038 ; biolink:category biolink:Disease . OMIM:164320 a owl:Class ; @@ -52892,20 +54191,21 @@ OMIM:164320 a owl:Class ; PMID:3388043, PMID:6167987, PMID:7678922 ; - oboInOwl:hasDbXref UMLS:C1428059 ; oboInOwl:hasExactSynonym "OBP2A", "odorant-binding protein", "odorant-binding protein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29991 ; - skos:exactMatch HGNC_symbol:OBP2A ; + skos:exactMatch UMLS:C1428059, + HGNC:23380, + HGNC_symbol:OBP2A ; biolink:category biolink:Gene . OMIM:164330 a owl:Class ; rdfs:label "odontoma-dysphagia syndrome" ; IAO:0000142 PMID:4424740 ; - oboInOwl:hasDbXref UMLS:C1834013 ; - oboInOwl:hasExactSynonym "odontoma-dysphagia syndrome" . + oboInOwl:hasExactSynonym "odontoma-dysphagia syndrome" ; + skos:exactMatch UMLS:C1834013 . OMIM:164340 a owl:Class ; rdfs:label "OMP" ; @@ -52914,12 +54214,13 @@ OMIM:164340 a owl:Class ; PMID:3470751, PMID:8499899, PMID:8790421 ; - oboInOwl:hasDbXref UMLS:C1417950 ; oboInOwl:hasExactSynonym "OMP", "olfactory marker protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4975 ; - skos:exactMatch HGNC_symbol:OMP ; + skos:exactMatch UMLS:C1417950, + HGNC:8136, + HGNC_symbol:OMP ; biolink:category biolink:Gene . OMIM:164342 a owl:Class ; @@ -52948,14 +54249,15 @@ OMIM:164342 a owl:Class ; PMID:9384599, PMID:9422698, PMID:9500546 ; - oboInOwl:hasDbXref UMLS:C1417988 ; oboInOwl:hasExactSynonym "OR1D2", "olfactory receptor 1", "olfactory receptor, family 1, subfamily d, member 2", "testicular odorant receptor or17-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4991 ; - skos:exactMatch HGNC_symbol:OR1D2 ; + skos:exactMatch UMLS:C1417988, + HGNC:8183, + HGNC_symbol:OR1D2 ; biolink:category biolink:Gene . OMIM:164343 a owl:Class ; @@ -52970,7 +54272,6 @@ OMIM:164343 a owl:Class ; PMID:8321284, PMID:8491377, PMID:8497258 ; - oboInOwl:hasDbXref UMLS:C1825022 ; oboInOwl:hasExactSynonym "EBF1", "collier/olf1/ebf transcription factor 1", "early b-cell factor 1", @@ -52978,7 +54279,9 @@ OMIM:164343 a owl:Class ; "olfactory neuronal transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1879 ; - skos:exactMatch HGNC_symbol:EBF1 ; + skos:exactMatch UMLS:C1825022, + HGNC:3126, + HGNC_symbol:EBF1 ; biolink:category biolink:Gene . OMIM:164345 a owl:Class ; @@ -52990,13 +54293,14 @@ OMIM:164345 a owl:Class ; PMID:2277079, PMID:8244377, PMID:9569019 ; - oboInOwl:hasDbXref UMLS:C1417949 ; oboInOwl:hasExactSynonym "OMG", "oligodendrocyte-myelin glycoprotein", "omgp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4974 ; - skos:exactMatch HGNC_symbol:OMG ; + skos:exactMatch UMLS:C1417949, + HGNC:8135, + HGNC_symbol:OMG ; biolink:category biolink:Gene . OMIM:164350 a owl:Class ; @@ -53021,14 +54325,15 @@ OMIM:164350 a owl:Class ; PMID:3753689, PMID:6348777, PMID:9790745 ; - oboInOwl:hasDbXref UMLS:C1417912 ; oboInOwl:hasExactSynonym "2-prime,5-prime-a synthetase", "2-prime,5-prime-oligoadenylate synthetase 1", "2-prime,5-prime-oligoisoadenylate synthetase", "OAS1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4938 ; - skos:exactMatch HGNC_symbol:OAS1 ; + skos:exactMatch UMLS:C1417912, + HGNC:8086, + HGNC_symbol:OAS1 ; biolink:category biolink:Gene . OMIM:164360 a owl:Class ; @@ -53042,9 +54347,6 @@ OMIM:164360 a owl:Class ; PMID:9284928 ; RO:0002525 CHR:9606chr18q21.1 ; RO:0003303 OMIM:615228 ; - oboInOwl:hasDbXref UMLS:C1412647, - UMLS:C3808899, - UMLS:C4015062 ; oboInOwl:hasExactSynonym "ATP5F1A", "atp synthase f1, subunit alpha", "atp synthase, h+ transporting, mitochondrial f1 complex, alpha subunit 1", @@ -53055,7 +54357,11 @@ OMIM:164360 a owl:Class ; "modifier of min 2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:498 ; - skos:exactMatch HGNC_symbol:ATP5F1A ; + skos:exactMatch UMLS:C1412647, + UMLS:C3808899, + UMLS:C4015062, + HGNC:823, + HGNC_symbol:ATP5F1A ; biolink:category biolink:Gene . OMIM:164600 a owl:Class ; @@ -53064,8 +54370,8 @@ OMIM:164600 a owl:Class ; OMIM:164680 a owl:Class ; rdfs:label "onychogryposis, pedal, with keratosis plantaris and coarse hair" ; - oboInOwl:hasDbXref UMLS:C1833997 ; - oboInOwl:hasExactSynonym "onychogryposis, pedal, with keratosis plantaris and coarse hair" . + oboInOwl:hasExactSynonym "onychogryposis, pedal, with keratosis plantaris and coarse hair" ; + skos:exactMatch UMLS:C1833997 . OMIM:164690 a owl:Class ; rdfs:label "ABL2" ; @@ -53075,7 +54381,6 @@ OMIM:164690 a owl:Class ; PMID:2198571, PMID:2567701, PMID:3787260 ; - oboInOwl:hasDbXref UMLS:C0812381 ; oboInOwl:hasExactSynonym "ABL2", "abelson-related gene", "abl protooncogene 2, nonreceptor tyrosine kinase", @@ -53086,7 +54391,9 @@ OMIM:164690 a owl:Class ; "v-abl abelson murine leukemia viral oncogene homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27 ; - skos:exactMatch HGNC_symbol:ABL2 ; + skos:exactMatch UMLS:C0812381, + HGNC:77, + HGNC_symbol:ABL2 ; biolink:category biolink:Gene . OMIM:164700 a owl:Class ; @@ -53094,8 +54401,8 @@ OMIM:164700 a owl:Class ; PMID:13378591, PMID:4910986 ; IAO:0100001 OMIM:607136 ; - oboInOwl:hasDbXref UMLS:C1833995 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1833995 . OMIM:164720 a owl:Class ; rdfs:label "ETS1" ; @@ -53129,7 +54436,6 @@ OMIM:164720 a owl:Class ; PMID:7753825, PMID:8882392, PMID:9570133 ; - oboInOwl:hasDbXref UMLS:C0812201 ; oboInOwl:hasExactSynonym "ETS1", "ets protooncogene 1, transcription factor", "ets1 oncogene", @@ -53137,7 +54443,9 @@ OMIM:164720 a owl:Class ; "v-ets avian erythroblastosis virus e26 oncogene homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2113 ; - skos:exactMatch HGNC_symbol:ETS1 ; + skos:exactMatch UMLS:C0812201, + HGNC:3488, + HGNC_symbol:ETS1 ; biolink:category biolink:Gene . OMIM:164731 a owl:Class ; @@ -53156,7 +54464,6 @@ OMIM:164731 a owl:Class ; PMID:8976376 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:240900 ; - oboInOwl:hasDbXref UMLS:C0812230 ; oboInOwl:hasExactSynonym "AKT2", "akt serine/threonine kinase 2", "oncogene akt2", @@ -53165,7 +54472,9 @@ OMIM:164731 a owl:Class ; "v-akt murine thymoma viral oncogene homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:208 ; - skos:exactMatch HGNC_symbol:AKT2 ; + skos:exactMatch UMLS:C0812230, + HGNC:392, + HGNC_symbol:AKT2 ; biolink:category biolink:Gene . OMIM:164740 a owl:Class ; @@ -53187,7 +54496,6 @@ OMIM:164740 a owl:Class ; PMID:3513188, PMID:3941901, PMID:8596630 ; - oboInOwl:hasDbXref UMLS:C0812202 ; oboInOwl:hasExactSynonym "ETS2", "ets protooncogene 2, transcription factor", "ets2 intronic transcript", @@ -53196,7 +54504,9 @@ OMIM:164740 a owl:Class ; "v-ets avian erythroblastosis virus e26 oncogene homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2114 ; - skos:exactMatch HGNC_symbol:ETS2 ; + skos:exactMatch UMLS:C0812202, + HGNC:3489, + HGNC_symbol:ETS2 ; biolink:category biolink:Gene . OMIM:164750 a owl:Class ; @@ -53216,9 +54526,9 @@ OMIM:164750 a owl:Class ; PMID:8533813, PMID:89528 ; RO:0002525 CHR:9606chr1p31.3 ; - oboInOwl:hasDbXref UMLS:C3277235 ; oboInOwl:hasExactSynonym "chromosome 1p31 duplication syndrome", "omphalocele, autosomal" ; + skos:exactMatch UMLS:C3277235 ; biolink:category biolink:Disease . OMIM:164756 a owl:Class ; @@ -53259,8 +54569,6 @@ OMIM:164760 a owl:Class ; PMID:8929532 ; RO:0002525 CHR:9606chr3p25.2 ; RO:0003303 OMIM:611553 ; - oboInOwl:hasDbXref UMLS:C0812215, - UMLS:C3149025 ; oboInOwl:hasExactSynonym "RAF1", "craf", "oncogene mil", @@ -53271,7 +54579,10 @@ OMIM:164760 a owl:Class ; "v-raf-1 murine leukemia viral oncogene homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5894 ; - skos:exactMatch HGNC_symbol:RAF1 ; + skos:exactMatch UMLS:C0812215, + UMLS:C3149025, + HGNC:9829, + HGNC_symbol:RAF1 ; biolink:category biolink:Gene . OMIM:164761 a owl:Class ; @@ -53421,15 +54732,16 @@ OMIM:164761 a owl:Class ; PMID:9880212 ; RO:0002525 CHR:9606chr10q11.21 ; RO:0003303 OMIM:142623 ; - oboInOwl:hasDbXref UMLS:C0694890, - UMLS:C1846724 ; oboInOwl:hasExactSynonym "RET", "rearranged during transfection protooncogene", "ret protooncogene", "ret/elks fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5979 ; - skos:exactMatch HGNC_symbol:RET ; + skos:exactMatch UMLS:C0694890, + UMLS:C1846724, + HGNC:9967, + HGNC_symbol:RET ; biolink:category biolink:Gene . OMIM:164762 a owl:Class ; @@ -53440,7 +54752,6 @@ OMIM:164762 a owl:Class ; PMID:21041412, PMID:7855886, PMID:8378094 ; - oboInOwl:hasDbXref UMLS:C0812252 ; oboInOwl:hasExactSynonym "CRK", "crk protooncogene, adaptor protein", "crkii", @@ -53448,7 +54759,9 @@ OMIM:164762 a owl:Class ; "v-crk avian sarcoma virus ct10 oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1398 ; - skos:exactMatch HGNC_symbol:CRK ; + skos:exactMatch UMLS:C0812252, + HGNC:2362, + HGNC_symbol:CRK ; biolink:category biolink:Gene . OMIM:164765 a owl:Class ; @@ -53458,13 +54771,14 @@ OMIM:164765 a owl:Class ; PMID:17959782, PMID:21669400, PMID:9054437 ; - oboInOwl:hasDbXref UMLS:C0812261 ; oboInOwl:hasExactSynonym "CTTN", "cortactin", "oncogene ems1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2017 ; - skos:exactMatch HGNC_symbol:CTTN ; + skos:exactMatch UMLS:C0812261, + HGNC:3338, + HGNC_symbol:CTTN ; biolink:category biolink:Gene . OMIM:164772 a owl:Class ; @@ -53477,7 +54791,6 @@ OMIM:164772 a owl:Class ; PMID:1900040, PMID:20056891, PMID:8706134 ; - oboInOwl:hasDbXref UMLS:C1333571 ; oboInOwl:hasExactSynonym "FOSB", "delta-fosb", "fosb protooncogene, ap1 transcription factor subunit", @@ -53486,7 +54799,9 @@ OMIM:164772 a owl:Class ; "v-fos fbj murine osteosarcoma viral oncogene homolog B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2354 ; - skos:exactMatch HGNC_symbol:FOSB ; + skos:exactMatch UMLS:C1333571, + HGNC:3797, + HGNC_symbol:FOSB ; biolink:category biolink:Gene . OMIM:164780 a owl:Class ; @@ -53511,7 +54826,6 @@ OMIM:164780 a owl:Class ; PMID:9441676 ; RO:0002525 CHR:9606chr1p36.33-p36.32 ; RO:0003303 OMIM:182212 ; - oboInOwl:hasDbXref UMLS:C0812379 ; oboInOwl:hasExactSynonym "SKI", "oncogene sk, chicken viral", "sk oncogene", @@ -53519,7 +54833,9 @@ OMIM:164780 a owl:Class ; "v-ski avian sarcoma viral oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6497 ; - skos:exactMatch HGNC_symbol:SKI ; + skos:exactMatch UMLS:C0812379, + HGNC:10896, + HGNC_symbol:SKI ; biolink:category biolink:Gene . OMIM:164785 a owl:Class ; @@ -53571,7 +54887,6 @@ OMIM:164785 a owl:Class ; PMID:9732264 ; RO:0002525 CHR:9606chr12q15 ; RO:0003303 OMIM:614401 ; - oboInOwl:hasDbXref UMLS:C0812222 ; oboInOwl:hasExactSynonym "MDM2", "hdm2", "mdm2 protooncogene", @@ -53580,7 +54895,9 @@ OMIM:164785 a owl:Class ; "p53-binding protein mdm2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4193 ; - skos:exactMatch HGNC_symbol:MDM2 ; + skos:exactMatch UMLS:C0812222, + HGNC:6973, + HGNC_symbol:MDM2 ; biolink:category biolink:Gene . OMIM:164790 a owl:Class ; @@ -53627,14 +54944,15 @@ OMIM:164790 a owl:Class ; PMID:7789166 ; RO:0002525 CHR:9606chr1p13.2 ; RO:0003303 OMIM:188470 ; - oboInOwl:hasDbXref UMLS:C0809246 ; oboInOwl:hasExactSynonym "NRAS", "neuroblastoma ras viral oncogene homolog", "nras protooncogene, gtpase", "oncogene nras" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4893 ; - skos:exactMatch HGNC_symbol:NRAS ; + skos:exactMatch UMLS:C0809246, + HGNC:7989, + HGNC_symbol:NRAS ; biolink:category biolink:Gene . OMIM:164795 a owl:Class ; @@ -53642,13 +54960,14 @@ OMIM:164795 a owl:Class ; IAO:0000142 PMID:1559707, PMID:2614829, PMID:8597631 ; - oboInOwl:hasDbXref UMLS:C1417929 ; oboInOwl:hasExactSynonym "OCM", "oncomodulin", "parvalbumin, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:654231 ; - skos:exactMatch HGNC_symbol:OCM ; + skos:exactMatch UMLS:C1417929, + HGNC:8105, + HGNC_symbol:OCM ; biolink:category biolink:Gene . OMIM:164800 a owl:Class ; @@ -53657,12 +54976,12 @@ OMIM:164800 a owl:Class ; PMID:2347107, PMID:5355969, PMID:5926726 ; - oboInOwl:hasDbXref UMLS:C1833909 ; oboInOwl:hasExactSynonym "NDNC5", "nail disorder, nonsyndromic congenital, 5", "onycholysis, hereditary distal", "onycholysis, partial, with scleronychia" ; rdfs:subClassOf OMIMPS:161050 ; + skos:exactMatch UMLS:C1833909 ; biolink:category biolink:Disease . OMIM:164810 a owl:Class ; @@ -53690,7 +55009,6 @@ OMIM:164810 a owl:Class ; PMID:8232942, PMID:8578600, PMID:9888853 ; - oboInOwl:hasDbXref UMLS:C0087140 ; oboInOwl:hasExactSynonym "FOS", "fbj osteosarcoma virus", "fos protooncogene, ap1 transcription factor subunit", @@ -53698,7 +55016,9 @@ OMIM:164810 a owl:Class ; "v-fos fbj murine osteosarcoma viral oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2353 ; - skos:exactMatch HGNC_symbol:FOS ; + skos:exactMatch UMLS:C0087140, + HGNC:3796, + HGNC_symbol:FOS ; biolink:category biolink:Gene . OMIM:164820 a owl:Class ; @@ -53729,14 +55049,15 @@ OMIM:164820 a owl:Class ; PMID:6513929 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:615221 ; - oboInOwl:hasDbXref UMLS:C0812233 ; oboInOwl:hasExactSynonym "WNT1", "mouse mammary tumor virus integration site 1", "oncogene int1", "wingless-type mmtv integration site family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7471 ; - skos:exactMatch HGNC_symbol:WNT1 ; + skos:exactMatch UMLS:C0812233, + HGNC:12774, + HGNC_symbol:WNT1 ; biolink:category biolink:Gene . OMIM:164830 a owl:Class ; @@ -53766,13 +55087,14 @@ OMIM:164831 a owl:Class ; PMID:7715727, PMID:8268912, PMID:9199346 ; - oboInOwl:hasDbXref UMLS:C1826623 ; oboInOwl:hasExactSynonym "BMI1", "bmi1 protooncogene, polycomb ring finger", "leukemia viral bmi-1 oncogene, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:648 ; - skos:exactMatch HGNC_symbol:BMI1 ; + skos:exactMatch UMLS:C1826623, + HGNC:1066, + HGNC_symbol:BMI1 ; biolink:category biolink:Gene . OMIM:164840 a owl:Class ; @@ -53817,7 +55139,6 @@ OMIM:164840 a owl:Class ; PMID:8786126 ; RO:0002525 CHR:9606chr2p24.3 ; RO:0003303 OMIM:164280 ; - oboInOwl:hasDbXref UMLS:C0812287 ; oboInOwl:hasExactSynonym "MYCN", "avian myelocytomatosis viral-related oncogene, neuroblastoma-derived", "mycn protooncogene, bhlh transcription factor", @@ -53827,7 +55148,9 @@ OMIM:164840 a owl:Class ; "v-myc avian myelocytomatosis viral-related oncogene, neuroblastoma-derived" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4613 ; - skos:exactMatch HGNC_symbol:MYCN ; + skos:exactMatch UMLS:C0812287, + HGNC:7559, + HGNC_symbol:MYCN ; biolink:category biolink:Gene . OMIM:164850 a owl:Class ; @@ -53840,7 +55163,6 @@ OMIM:164850 a owl:Class ; PMID:2997622, PMID:7576960, PMID:8978772 ; - oboInOwl:hasDbXref UMLS:C0812289 ; oboInOwl:hasExactSynonym "MYCL", "avian myelocytomatosis viral oncogene homolog 1, lung carcinoma-derived", "myc-related gene from lung cancer", @@ -53850,7 +55172,9 @@ OMIM:164850 a owl:Class ; "v-myc avian myelocytomatosis viral oncogene homolog, lung carcinoma-derived" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4610 ; - skos:exactMatch HGNC_symbol:MYCL ; + skos:exactMatch UMLS:C0812289, + HGNC:7555, + HGNC_symbol:MYCL ; biolink:category biolink:Gene . OMIM:164860 a owl:Class ; @@ -53889,31 +55213,32 @@ OMIM:164860 a owl:Class ; PMID:9927037 ; RO:0002525 CHR:9606chr7q31.2 ; RO:0003303 OMIM:607278 ; - oboInOwl:hasDbXref UMLS:C1336839, - UMLS:C1417123, - UMLS:C4015968, - UMLS:C4016289, - UMLS:C4016290, - UMLS:C4084709, - UMLS:C4085248 ; oboInOwl:hasExactSynonym "MET", "hepatocyte growth factor receptor", "met protooncogene", "oncogene met" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4233 ; - skos:exactMatch HGNC_symbol:MET ; + skos:exactMatch UMLS:C1336839, + UMLS:C1417123, + UMLS:C4015968, + UMLS:C4016289, + UMLS:C4016290, + UMLS:C4084709, + UMLS:C4085248, + HGNC:7029, + HGNC_symbol:MET ; biolink:category biolink:Gene . OMIM:164865 a owl:Class ; rdfs:label "MYCLK1" ; IAO:0000142 PMID:1612604 ; - oboInOwl:hasDbXref UMLS:C1417528 ; oboInOwl:hasExactSynonym "MYCLK1", "avian myelocytomatosis viral oncogene homolog like-1", "oncogene myc-like-1", "v-myc avian myelocytomatosis viral oncogene homolog-like 1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1417528 ; biolink:category biolink:Gene . OMIM:164870 a owl:Class ; @@ -53978,7 +55303,6 @@ OMIM:164870 a owl:Class ; PMID:9844631 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:167000 ; - oboInOwl:hasDbXref UMLS:C0242957 ; oboInOwl:hasExactSynonym "ERBB2", "erb-b2 receptor tyrosine kinase 2", "her2", @@ -53990,7 +55314,9 @@ OMIM:164870 a owl:Class ; "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2064 ; - skos:exactMatch HGNC_symbol:ERBB2 ; + skos:exactMatch UMLS:C0242957, + HGNC:3430, + HGNC_symbol:ERBB2 ; biolink:category biolink:Gene . OMIM:164873 a owl:Class ; @@ -53998,7 +55324,6 @@ OMIM:164873 a owl:Class ; IAO:0000142 PMID:12007404, PMID:18025162, PMID:8020980 ; - oboInOwl:hasDbXref UMLS:C0812270 ; oboInOwl:hasExactSynonym "ETV3", "ets variant gene 3", "ets variant transcription factor 3", @@ -54006,7 +55331,9 @@ OMIM:164873 a owl:Class ; "oncogene pe1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2117 ; - skos:exactMatch HGNC_symbol:ETV3 ; + skos:exactMatch UMLS:C0812270, + HGNC:3492, + HGNC_symbol:ETV3 ; biolink:category biolink:Gene . OMIM:164875 a owl:Class ; @@ -54023,14 +55350,16 @@ OMIM:164875 a owl:Class ; PMID:7700359, PMID:7700360, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1336926 ; oboInOwl:hasExactSynonym "VAV1", "oncogene vav", "oncogene vav1", + "vav guanine nucleotide exchange factor 1", "vav1 oncogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7409 ; - skos:exactMatch HGNC_symbol:VAV1 ; + skos:exactMatch UMLS:C1336926, + HGNC:12657, + HGNC_symbol:VAV1 ; biolink:category biolink:Gene . OMIM:164880 a owl:Class ; @@ -54045,14 +55374,15 @@ OMIM:164880 a owl:Class ; PMID:582296, PMID:8449504, PMID:8449516 ; - oboInOwl:hasDbXref UMLS:C0919479 ; oboInOwl:hasExactSynonym "YES1", "oncogene yes1", "v-yes-1 yamaguchi sarcoma viral oncogene", "yamaguchi sarcoma oncogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7525 ; - skos:exactMatch HGNC_symbol:YES1 ; + skos:exactMatch UMLS:C0919479, + HGNC:12841, + HGNC_symbol:YES1 ; biolink:category biolink:Gene . OMIM:164891 a owl:Class ; @@ -54062,9 +55392,9 @@ OMIM:164891 a owl:Class ; OMIM:164900 a owl:Class ; rdfs:label "ophthalmomandibulomelic dysplasia" ; IAO:0000142 PMID:14161103 ; - oboInOwl:hasDbXref UMLS:C1833872 ; oboInOwl:hasExactSynonym "omm syndrome", "ophthalmomandibulomelic dysplasia" ; + skos:exactMatch UMLS:C1833872 ; biolink:category biolink:Disease . OMIM:164905 a owl:Class ; @@ -54082,7 +55412,6 @@ OMIM:164910 a owl:Class ; PMID:3529946 ; RO:0002525 CHR:9606chr2p16.1 ; RO:0003303 OMIM:619652 ; - oboInOwl:hasDbXref UMLS:C0035018 ; oboInOwl:hasExactSynonym "REL", "c-rel", "oncogene rel", @@ -54090,7 +55419,9 @@ OMIM:164910 a owl:Class ; "v-rel avian reticuloendotheliosis viral oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5966 ; - skos:exactMatch HGNC_symbol:REL ; + skos:exactMatch UMLS:C0035018, + HGNC:9954, + HGNC_symbol:REL ; biolink:category biolink:Gene . OMIM:164920 a owl:Class ; @@ -54163,7 +55494,6 @@ OMIM:164920 a owl:Class ; PMID:9990072 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:172800 ; - oboInOwl:hasDbXref UMLS:C1416655 ; oboInOwl:hasExactSynonym "KIT", "kit oncogene", "kit protooncogene, receptor tyrosine kinase", @@ -54172,7 +55502,9 @@ OMIM:164920 a owl:Class ; "v-kit hardy-zuckerman 4 feline sarcoma viral oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3815 ; - skos:exactMatch HGNC_symbol:KIT ; + skos:exactMatch UMLS:C1416655, + HGNC:6342, + HGNC_symbol:KIT ; biolink:category biolink:Gene . OMIM:164940 a owl:Class ; @@ -54184,8 +55516,6 @@ OMIM:164940 a owl:Class ; PMID:3023853, PMID:31138708, PMID:6092965 ; - oboInOwl:hasDbXref UMLS:C0919478, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "FGR", "fgr oncogene", "fgr protooncogene, src family tyrosine kinase", @@ -54194,7 +55524,10 @@ OMIM:164940 a owl:Class ; "src2 oncogene, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2268 ; - skos:exactMatch HGNC_symbol:FGR ; + skos:exactMatch UMLS:C0919478, + UMLS:C2986382, + HGNC:3697, + HGNC_symbol:FGR ; biolink:category biolink:Gene . OMIM:164950 a owl:Class ; @@ -54215,7 +55548,6 @@ OMIM:164950 a owl:Class ; PMID:3574458 ; RO:0002525 CHR:9606chr11q13.3 ; RO:0003303 OMIM:610706 ; - oboInOwl:hasDbXref UMLS:C0812290 ; oboInOwl:hasExactSynonym "FGF3", "fibroblast growth factor 3", "mouse mammary tumor virus integration site 2", @@ -54223,7 +55555,9 @@ OMIM:164950 a owl:Class ; "v-int2 murine mammary tumor virus integration site oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2248 ; - skos:exactMatch HGNC_symbol:FGF3 ; + skos:exactMatch UMLS:C0812290, + HGNC:3681, + HGNC_symbol:FGF3 ; biolink:category biolink:Gene . OMIM:164951 a owl:Class ; @@ -54235,7 +55569,6 @@ OMIM:164951 a owl:Class ; PMID:8681805, PMID:9168133, PMID:9693032 ; - oboInOwl:hasDbXref UMLS:C0812223 ; oboInOwl:hasExactSynonym "NOTCH4", "mouse mammary tumor virus integration site 3", "notch receptor 4", @@ -54244,19 +55577,21 @@ OMIM:164951 a owl:Class ; "oncogene int3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4855 ; - skos:exactMatch HGNC_symbol:NOTCH4 ; + skos:exactMatch UMLS:C0812223, + HGNC:7884, + HGNC_symbol:NOTCH4 ; biolink:category biolink:Gene . OMIM:164953 a owl:Class ; rdfs:label "LPSA" ; IAO:0000142 PMID:1923531 ; RO:0002525 CHR:9606chr19p13.2-q13.3 ; - oboInOwl:hasDbXref UMLS:C1833841 ; oboInOwl:hasExactSynonym "LPSA", "d19s381e", "oncogene liposarcoma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8177 ; + skos:exactMatch UMLS:C1833841 ; biolink:category biolink:Gene . OMIM:164958 a owl:Class ; @@ -54270,14 +55605,15 @@ OMIM:164958 a owl:Class ; PMID:7687569, PMID:8975721, PMID:9371786 ; - oboInOwl:hasDbXref UMLS:C0919441 ; oboInOwl:hasExactSynonym "CCN3", "cellular communication network factor 3", "nephroblastoma overexpressed gene", "oncogene nov" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4856 ; - skos:exactMatch HGNC_symbol:CCN3 ; + skos:exactMatch UMLS:C0919441, + HGNC:7885, + HGNC_symbol:CCN3 ; biolink:category biolink:Gene . OMIM:164960 a owl:Class ; @@ -54296,14 +55632,15 @@ OMIM:164960 a owl:Class ; PMID:3329711, PMID:3754237, PMID:8233823 ; - oboInOwl:hasDbXref UMLS:C0812214 ; oboInOwl:hasExactSynonym "PIM1", "oncogene pim 1", "pim", "serine/threonine protein kinase pim1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5292 ; - skos:exactMatch HGNC_symbol:PIM1 ; + skos:exactMatch UMLS:C0812214, + HGNC:8986, + HGNC_symbol:PIM1 ; biolink:category biolink:Gene . OMIM:164970 a owl:Class ; @@ -54333,13 +55670,14 @@ OMIM:164975 a owl:Class ; PMID:9054360 ; RO:0002525 CHR:9606chr3p14.3 ; RO:0003303 OMIM:180700 ; - oboInOwl:hasDbXref UMLS:C0812229 ; oboInOwl:hasExactSynonym "WNT5A", "oncogene wnt5a", "wingless-type mmtv integration site family, member 5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7474 ; - skos:exactMatch HGNC_symbol:WNT5A ; + skos:exactMatch UMLS:C0812229, + HGNC:12784, + HGNC_symbol:WNT5A ; biolink:category biolink:Gene . OMIM:164980 a owl:Class ; @@ -54364,7 +55702,6 @@ OMIM:164980 a owl:Class ; PMID:3459165, PMID:7809630, PMID:9323126 ; - oboInOwl:hasDbXref UMLS:C0919466 ; oboInOwl:hasExactSynonym "FGF4", "fgf-related oncogene", "fibroblast growth factor 4", @@ -54374,7 +55711,9 @@ OMIM:164980 a owl:Class ; "oncogene hst" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2249 ; - skos:exactMatch HGNC_symbol:FGF4 ; + skos:exactMatch UMLS:C0919466, + HGNC:3682, + HGNC_symbol:FGF4 ; biolink:category biolink:Gene . OMIM:165000 a owl:Class ; @@ -54383,9 +55722,9 @@ OMIM:165000 a owl:Class ; PMID:14415239, PMID:5568594, PMID:7400782 ; - oboInOwl:hasDbXref UMLS:C1833839 ; oboInOwl:hasExactSynonym "external ophthalmoplegia, nonprogressive, congenital hereditary", "ophthalmoplegia, familial static" ; + skos:exactMatch UMLS:C1833839 ; biolink:category biolink:Disease . OMIM:165010 a owl:Class ; @@ -54403,8 +55742,6 @@ OMIM:165020 a owl:Class ; PMID:3329713, PMID:3529088, PMID:3785223 ; - oboInOwl:hasDbXref UMLS:C0812281, - UMLS:C1847375 ; oboInOwl:hasExactSynonym "ROS1", "mcf3", "oncogene ros", @@ -54413,7 +55750,10 @@ OMIM:165020 a owl:Class ; "v-ros avian ur2 sarcoma virus oncogene homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6098 ; - skos:exactMatch HGNC_symbol:ROS1 ; + skos:exactMatch UMLS:C0812281, + UMLS:C1847375, + HGNC:10261, + HGNC_symbol:ROS1 ; biolink:category biolink:Gene . OMIM:165040 a owl:Class ; @@ -54429,14 +55769,15 @@ OMIM:165040 a owl:Class ; PMID:3466361, PMID:6090953, PMID:9226381 ; - oboInOwl:hasDbXref UMLS:C1417108 ; oboInOwl:hasExactSynonym "RAB8A", "oncogene mel", "ras-associated protein rab8", "ras-associated protein rab8a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4218 ; - skos:exactMatch HGNC_symbol:RAB8A ; + skos:exactMatch UMLS:C1417108, + HGNC:7007, + HGNC_symbol:RAB8A ; biolink:category biolink:Gene . OMIM:165060 a owl:Class ; @@ -54446,7 +55787,6 @@ OMIM:165060 a owl:Class ; PMID:3038909, PMID:3156131, PMID:8188307 ; - oboInOwl:hasDbXref UMLS:C1421182 ; oboInOwl:hasExactSynonym "TRU-TCA1-1", "opal suppressor phosphoserine trna", "transfer RNA selenocysteine 1", @@ -54456,7 +55796,9 @@ OMIM:165060 a owl:Class ; "trna-sec (anticodon tca) 1-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7234 ; - skos:exactMatch HGNC_symbol:TRU-TCA1-1 ; + skos:exactMatch UMLS:C1421182, + HGNC:12348, + HGNC_symbol:TRU-TCA1-1 ; biolink:category biolink:Gene . OMIM:165070 a owl:Class ; @@ -54488,7 +55830,6 @@ OMIM:165070 a owl:Class ; PMID:8248162, PMID:8806634, PMID:9393862 ; - oboInOwl:hasDbXref UMLS:C0812298 ; oboInOwl:hasExactSynonym "FLT1", "fms-related tyrosine kinase 1", "oncogene flt", @@ -54496,7 +55837,9 @@ OMIM:165070 a owl:Class ; "vascular endothelial growth factor/vascular permeability factor receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2321 ; - skos:exactMatch HGNC_symbol:FLT1 ; + skos:exactMatch UMLS:C0812298, + HGNC:3763, + HGNC_symbol:FLT1 ; biolink:category biolink:Gene . OMIM:165080 a owl:Class ; @@ -54516,10 +55859,6 @@ OMIM:165080 a owl:Class ; PMID:8022447, PMID:8187069, PMID:8502479 ; - oboInOwl:hasDbXref UMLS:C0599295, - UMLS:C1336641, - UMLS:C1851465, - UMLS:C3887934 ; oboInOwl:hasExactSynonym "ERG", "erg/ews fusion gene", "erg/fus fusion gene", @@ -54532,7 +55871,12 @@ OMIM:165080 a owl:Class ; "v-ets avian erythroblastosis virus e26 oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2078 ; - skos:exactMatch HGNC_symbol:ERG ; + skos:exactMatch UMLS:C0599295, + UMLS:C1336641, + UMLS:C1851465, + UMLS:C3887934, + HGNC:3446, + HGNC_symbol:ERG ; biolink:category biolink:Gene . OMIM:165090 a owl:Class ; @@ -54540,13 +55884,14 @@ OMIM:165090 a owl:Class ; IAO:0000142 PMID:15297673, PMID:16286923, PMID:3098437 ; - oboInOwl:hasDbXref UMLS:C1419756 ; oboInOwl:hasExactSynonym "RRAS", "oncogene rras", "related ras viral oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6237 ; - skos:exactMatch HGNC_symbol:RRAS ; + skos:exactMatch UMLS:C1419756, + HGNC:10447, + HGNC_symbol:RRAS ; biolink:category biolink:Gene . OMIM:165095 a owl:Class ; @@ -54558,32 +55903,33 @@ OMIM:165095 a owl:Class ; PMID:3540948, PMID:8406444, PMID:9202068 ; - oboInOwl:hasDbXref UMLS:C1335093 ; oboInOwl:hasExactSynonym "OSM", "oncostatin m" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5008 ; - skos:exactMatch HGNC_symbol:OSM ; + skos:exactMatch UMLS:C1335093, + HGNC:8506, + HGNC_symbol:OSM ; biolink:category biolink:Gene . OMIM:165098 a owl:Class ; rdfs:label "ophthalmoplegia, familial total, with iris transillumination" ; IAO:0000142 PMID:1558121 ; - oboInOwl:hasDbXref UMLS:C1833836 ; - oboInOwl:hasExactSynonym "ophthalmoplegia, familial total, with iris transillumination" . + oboInOwl:hasExactSynonym "ophthalmoplegia, familial total, with iris transillumination" ; + skos:exactMatch UMLS:C1833836 . OMIM:165110 a owl:Class ; rdfs:label "SEA" ; IAO:0000142 PMID:1358795, PMID:2546151, PMID:3205567 ; - oboInOwl:hasDbXref UMLS:C1419919 ; oboInOwl:hasExactSynonym "SEA", "oncogene sea", "s13 avian erythroblastosis oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6395 ; - skos:exactMatch HGNC_symbol:SEA ; + skos:exactMatch UMLS:C1419919, + HGNC_symbol:SEA ; biolink:category biolink:Gene . OMIM:165120 a owl:Class ; @@ -54596,33 +55942,35 @@ OMIM:165120 a owl:Class ; PMID:3561390, PMID:7544006, PMID:7585947 ; - oboInOwl:hasDbXref UMLS:C0812307 ; oboInOwl:hasExactSynonym "LYN", "oncogene lyn", "v-yes-1 yamaguchi sarcoma viral related oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4067 ; - skos:exactMatch HGNC_symbol:LYN ; + skos:exactMatch UMLS:C0812307, + HGNC:6735, + HGNC_symbol:LYN ; biolink:category biolink:Gene . OMIM:165140 a owl:Class ; rdfs:label "PVT1" ; IAO:0000142 PMID:25043044, PMID:3024964 ; - oboInOwl:hasDbXref UMLS:C0812285 ; oboInOwl:hasExactSynonym "PVT1", "myc activator", "oncogene pvt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5820 ; - skos:exactMatch HGNC_symbol:PVT1 ; + skos:exactMatch UMLS:C0812285, + HGNC:9709, + HGNC_symbol:PVT1 ; biolink:category biolink:Gene . OMIM:165150 a owl:Class ; rdfs:label "ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" ; IAO:0000142 PMID:1167409 ; - oboInOwl:hasDbXref UMLS:C1833835 ; - oboInOwl:hasExactSynonym "ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" . + oboInOwl:hasExactSynonym "ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" ; + skos:exactMatch UMLS:C1833835 . OMIM:165160 a owl:Class ; rdfs:label "JUN" ; @@ -54652,7 +56000,6 @@ OMIM:165160 a owl:Class ; PMID:3201229, PMID:7597047, PMID:8371760 ; - oboInOwl:hasDbXref UMLS:C0162508 ; oboInOwl:hasExactSynonym "JUN", "activator protein 1", "enhancer-binding protein ap1", @@ -54660,7 +56007,9 @@ OMIM:165160 a owl:Class ; "v-jun avian sarcoma virus 17 oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3725 ; - skos:exactMatch HGNC_symbol:JUN ; + skos:exactMatch UMLS:C0162508, + HGNC:6204, + HGNC_symbol:JUN ; biolink:category biolink:Gene . OMIM:165161 a owl:Class ; @@ -54677,12 +56026,13 @@ OMIM:165161 a owl:Class ; PMID:30224386, PMID:8432525, PMID:8530030 ; - oboInOwl:hasDbXref UMLS:C0812313 ; oboInOwl:hasExactSynonym "JUNB", "oncogene jun-b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3726 ; - skos:exactMatch HGNC_symbol:JUNB ; + skos:exactMatch UMLS:C0812313, + HGNC:6205, + HGNC_symbol:JUNB ; biolink:category biolink:Gene . OMIM:165162 a owl:Class ; @@ -54695,12 +56045,13 @@ OMIM:165162 a owl:Class ; PMID:1903194, PMID:22327296, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C0812312 ; oboInOwl:hasExactSynonym "JUND", "oncogene jun-d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3727 ; - skos:exactMatch HGNC_symbol:JUND ; + skos:exactMatch UMLS:C0812312, + HGNC:6206, + HGNC_symbol:JUND ; biolink:category biolink:Gene . OMIM:165170 a owl:Class ; @@ -54727,7 +56078,6 @@ OMIM:165170 a owl:Class ; PMID:9211934 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:619707 ; - oboInOwl:hasDbXref UMLS:C0919490 ; oboInOwl:hasExactSynonym "SPI1", "hematopoietic transcription factor pu.1", "oncogene spi1", @@ -54736,7 +56086,9 @@ OMIM:165170 a owl:Class ; "spleen focus forming virus proviral integration oncogene spi1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6688 ; - skos:exactMatch HGNC_symbol:SPI1 ; + skos:exactMatch UMLS:C0919490, + HGNC:11241, + HGNC_symbol:SPI1 ; biolink:category biolink:Gene . OMIM:165180 a owl:Class ; @@ -54750,13 +56102,14 @@ OMIM:165180 a owl:Class ; PMID:7894489, PMID:8661154, PMID:9565612 ; - oboInOwl:hasDbXref UMLS:C0812372 ; oboInOwl:hasExactSynonym "MAS1", "mas", "mas1 oncogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4142 ; - skos:exactMatch HGNC_symbol:MAS1 ; + skos:exactMatch UMLS:C0812372, + HGNC:6899, + HGNC_symbol:MAS1 ; biolink:category biolink:Gene . OMIM:165190 a owl:Class ; @@ -54771,12 +56124,13 @@ OMIM:165190 a owl:Class ; PMID:7923352 ; RO:0002525 CHR:9606chr4q21.21 ; RO:0003303 OMIM:190330 ; - oboInOwl:hasDbXref UMLS:C0919508 ; oboInOwl:hasExactSynonym "FGF5", "fibroblast growth factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2250 ; - skos:exactMatch HGNC_symbol:FGF5 ; + skos:exactMatch UMLS:C0919508, + HGNC:3683, + HGNC_symbol:FGF5 ; biolink:category biolink:Gene . OMIM:165195 a owl:Class ; @@ -54794,13 +56148,14 @@ OMIM:165195 a owl:Class ; PMID:8020949, PMID:8188281, PMID:8415697 ; - oboInOwl:hasDbXref UMLS:C1417962 ; oboInOwl:hasExactSynonym "OPRD1", "opioid receptor, delta-1", "oprd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4985 ; - skos:exactMatch HGNC_symbol:OPRD1 ; + skos:exactMatch UMLS:C1417962, + HGNC:8153, + HGNC_symbol:OPRD1 ; biolink:category biolink:Gene . OMIM:165196 a owl:Class ; @@ -54817,33 +56172,34 @@ OMIM:165196 a owl:Class ; PMID:7959748, PMID:8188308, PMID:9463367 ; - oboInOwl:hasDbXref UMLS:C1417963 ; oboInOwl:hasExactSynonym "OPRK1", "opioid receptor, kappa-1", "oprk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4986 ; - skos:exactMatch HGNC_symbol:OPRK1 ; + skos:exactMatch UMLS:C1417963, + HGNC:8154, + HGNC_symbol:OPRK1 ; biolink:category biolink:Gene . OMIM:165199 a owl:Class ; rdfs:label "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" ; IAO:0000142 PMID:2665489 ; - oboInOwl:hasDbXref UMLS:C1833831 ; - oboInOwl:hasExactSynonym "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" . + oboInOwl:hasExactSynonym "optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant" ; + skos:exactMatch UMLS:C1833831 . OMIM:165200 a owl:Class ; rdfs:label "optic atrophy with demyelinating disease of cns" ; IAO:0000142 PMID:14213470 ; - oboInOwl:hasDbXref UMLS:C1833830 ; - oboInOwl:hasExactSynonym "optic atrophy with demyelinating disease of cns" . + oboInOwl:hasExactSynonym "optic atrophy with demyelinating disease of cns" ; + skos:exactMatch UMLS:C1833830 . OMIM:165210 a owl:Class ; rdfs:label "oncogene bmyc" ; IAO:0000142 PMID:2850482 ; - oboInOwl:hasDbXref UMLS:C1833829 ; oboInOwl:hasExactSynonym "BMYC", - "oncogene bmyc" . + "oncogene bmyc" ; + skos:exactMatch UMLS:C1833829 . OMIM:165215 a owl:Class ; rdfs:label "MECOM" ; @@ -54857,9 +56213,6 @@ OMIM:165215 a owl:Class ; PMID:9307271 ; RO:0002525 CHR:9606chr3q26.2 ; RO:0003303 OMIM:616738 ; - oboInOwl:hasDbXref UMLS:C0812271, - UMLS:C4749144, - UMLS:C4749145 ; oboInOwl:hasExactSynonym "MECOM", "ecotropic viral integration site 1", "evi1/gr6 fusion gene", @@ -54869,7 +56222,11 @@ OMIM:165215 a owl:Class ; "oncogene evi1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2122 ; - skos:exactMatch HGNC_symbol:MECOM ; + skos:exactMatch UMLS:C0812271, + UMLS:C4749144, + UMLS:C4749145, + HGNC:3498, + HGNC_symbol:MECOM ; biolink:category biolink:Gene . OMIM:165220 a owl:Class ; @@ -54893,14 +56250,15 @@ OMIM:165220 a owl:Class ; PMID:9731531 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:174400 ; - oboInOwl:hasDbXref UMLS:C0812304 ; oboInOwl:hasExactSynonym "GLI1", "gli family zinc finger 1", "glioma-associated oncogene homolog", "oncogene gli" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2735 ; - skos:exactMatch HGNC_symbol:GLI1 ; + skos:exactMatch UMLS:C0812304, + HGNC:4317, + HGNC_symbol:GLI1 ; biolink:category biolink:Gene . OMIM:165230 a owl:Class ; @@ -54919,13 +56277,14 @@ OMIM:165230 a owl:Class ; PMID:8812445 ; RO:0002525 CHR:9606chr2q14.2 ; RO:0003303 OMIM:610829 ; - oboInOwl:hasDbXref UMLS:C0812306 ; oboInOwl:hasExactSynonym "GLI2", "gli-kruppel family member 2", "oncogene gli2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2736 ; - skos:exactMatch HGNC_symbol:GLI2 ; + skos:exactMatch UMLS:C0812306, + HGNC:4318, + HGNC_symbol:GLI2 ; biolink:category biolink:Gene . OMIM:165240 a owl:Class ; @@ -54980,39 +56339,42 @@ OMIM:165240 a owl:Class ; PMID:9405711 ; RO:0002525 CHR:9606chr7p14.1 ; RO:0003303 OMIM:174700 ; - oboInOwl:hasDbXref UMLS:C0812382 ; oboInOwl:hasExactSynonym "GLI3", "gli-kruppel family member 3", "oncogene gli3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2737 ; - skos:exactMatch HGNC_symbol:GLI3 ; + skos:exactMatch UMLS:C0812382, + HGNC:4319, + HGNC_symbol:GLI3 ; biolink:category biolink:Gene . OMIM:165250 a owl:Class ; rdfs:label "ZNF875" ; IAO:0000142 PMID:2850480 ; - oboInOwl:hasDbXref UMLS:C1415559 ; oboInOwl:hasExactSynonym "ZNF875", "gli-kruppel family member hkr1", "oncogene hkr1", "zinc finger protein 875" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284459 ; - skos:exactMatch HGNC_symbol:ZNF875 ; + skos:exactMatch UMLS:C1415559, + HGNC:4928, + HGNC_symbol:ZNF875 ; biolink:category biolink:Gene . OMIM:165260 a owl:Class ; rdfs:label "ZSCAN22" ; IAO:0000142 PMID:2850480 ; - oboInOwl:hasDbXref UMLS:C1824084 ; oboInOwl:hasExactSynonym "ZSCAN22", "gli-kruppel family member hkr2", "oncogene hkr2", "zinc finger- and scan domain-containing protein 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342945 ; - skos:exactMatch HGNC_symbol:ZSCAN22 ; + skos:exactMatch UMLS:C1824084, + HGNC:4929, + HGNC_symbol:ZSCAN22 ; biolink:category biolink:Gene . OMIM:165270 a owl:Class ; @@ -55021,7 +56383,6 @@ OMIM:165270 a owl:Class ; PMID:2850480, PMID:7969177, PMID:8661141 ; - oboInOwl:hasDbXref UMLS:C1823914 ; oboInOwl:hasExactSynonym "ZBTB48", "gli-kruppel family member hkr3", "oncogene hkr3", @@ -55029,40 +56390,43 @@ OMIM:165270 a owl:Class ; "zinc finger- and btb domain-containing protein 48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3104 ; - skos:exactMatch HGNC_symbol:ZBTB48 ; + skos:exactMatch UMLS:C1823914, + HGNC:4930, + HGNC_symbol:ZBTB48 ; biolink:category biolink:Gene . OMIM:165280 a owl:Class ; rdfs:label "GLI4" ; IAO:0000142 PMID:2850480, PMID:8641133 ; - oboInOwl:hasDbXref UMLS:C1415103 ; oboInOwl:hasExactSynonym "GLI4", "gli-kruppel family member 4", "oncogene gli4", "oncogene hkr4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2738 ; - skos:exactMatch HGNC_symbol:GLI4 ; + skos:exactMatch UMLS:C1415103, + HGNC:4320, + HGNC_symbol:GLI4 ; biolink:category biolink:Gene . OMIM:165290 a owl:Class ; rdfs:label "oncogene rmyc" ; IAO:0000142 PMID:3034500, PMID:3034933 ; - oboInOwl:hasDbXref UMLS:C1833810 ; oboInOwl:hasExactSynonym "RMYC", - "oncogene rmyc" . + "oncogene rmyc" ; + skos:exactMatch UMLS:C1833810 . OMIM:165320 a owl:Class ; rdfs:label "LCO" ; IAO:0000142 PMID:2846240, PMID:3014525 ; - oboInOwl:hasDbXref UMLS:C1416807 ; oboInOwl:hasExactSynonym "LCO", "liver cancer oncogene", "oncogene lca" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1416807 ; biolink:category biolink:Gene . OMIM:165330 a owl:Class ; @@ -55078,14 +56442,15 @@ OMIM:165330 a owl:Class ; PMID:8244403 ; RO:0002525 CHR:9606chr17q21.31-q21.32 ; RO:0003303 OMIM:273395 ; - oboInOwl:hasDbXref UMLS:C1337001 ; oboInOwl:hasExactSynonym "WNT3", "mouse mammary tumor virus integration site 4", "oncogene int4", "wingless-type mmtv integration site family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7473 ; - skos:exactMatch HGNC_symbol:WNT3 ; + skos:exactMatch UMLS:C1337001, + HGNC:12782, + HGNC_symbol:WNT3 ; biolink:category biolink:Gene . OMIM:165340 a owl:Class ; @@ -55094,13 +56459,14 @@ OMIM:165340 a owl:Class ; PMID:11741538, PMID:2762147, PMID:9207045 ; - oboInOwl:hasDbXref UMLS:C1335828 ; oboInOwl:hasExactSynonym "SKIL", "oncogene sno", "ski-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6498 ; - skos:exactMatch HGNC_symbol:SKIL ; + skos:exactMatch UMLS:C1335828, + HGNC:10897, + HGNC_symbol:SKIL ; biolink:category biolink:Gene . OMIM:165350 a owl:Class ; @@ -55139,11 +56505,6 @@ OMIM:165360 a owl:Class ; PMID:7881408 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:613563 ; - oboInOwl:hasDbXref UMLS:C0349639, - UMLS:C0812242, - UMLS:C2986382, - UMLS:C4016300, - UMLS:C4016301 ; oboInOwl:hasExactSynonym "CBL", "c-cbl", "cas-br-m murine ecotropic retroviral transforming sequence homolog", @@ -55155,7 +56516,13 @@ OMIM:165360 a owl:Class ; "rnf55" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:867 ; - skos:exactMatch HGNC_symbol:CBL ; + skos:exactMatch UMLS:C0349639, + UMLS:C0812242, + UMLS:C2986382, + UMLS:C4016300, + UMLS:C4016301, + HGNC:1541, + HGNC_symbol:CBL ; biolink:category biolink:Gene . OMIM:165370 a owl:Class ; @@ -55166,7 +56533,6 @@ OMIM:165370 a owl:Class ; PMID:2407642, PMID:3283705, PMID:3888408 ; - oboInOwl:hasDbXref UMLS:C0812235 ; oboInOwl:hasExactSynonym "RHOB", "aplysia ras-related homolog 6", "arhb", @@ -55174,7 +56540,9 @@ OMIM:165370 a owl:Class ; "ras homolog gene family, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388 ; - skos:exactMatch HGNC_symbol:RHOB ; + skos:exactMatch UMLS:C0812235, + HGNC:668, + HGNC_symbol:RHOB ; biolink:category biolink:Gene . OMIM:165380 a owl:Class ; @@ -55187,7 +56555,6 @@ OMIM:165380 a owl:Class ; PMID:3888408, PMID:7835413, PMID:8468062 ; - oboInOwl:hasDbXref UMLS:C0812236 ; oboInOwl:hasExactSynonym "RHOC", "aplysia ras-related homolog 9", "arhc", @@ -55195,7 +56562,9 @@ OMIM:165380 a owl:Class ; "ras homolog gene family, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389 ; - skos:exactMatch HGNC_symbol:RHOC ; + skos:exactMatch UMLS:C0812236, + HGNC:669, + HGNC_symbol:RHOC ; biolink:category biolink:Gene . OMIM:165390 a owl:Class ; @@ -55230,8 +56599,6 @@ OMIM:165390 a owl:Class ; PMID:9605859 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:618727 ; - oboInOwl:hasDbXref UMLS:C0812234, - UMLS:C5231517 ; oboInOwl:hasExactSynonym "RHOA", "aplysia ras-related homolog 12", "arha", @@ -55239,7 +56606,10 @@ OMIM:165390 a owl:Class ; "ras homolog gene family, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387 ; - skos:exactMatch HGNC_symbol:RHOA ; + skos:exactMatch UMLS:C0812234, + UMLS:C5231517, + HGNC:667, + HGNC_symbol:RHOA ; biolink:category biolink:Gene . OMIM:165490 a owl:Class ; @@ -55249,20 +56619,20 @@ OMIM:165490 a owl:Class ; OMIM:165590 a owl:Class ; rdfs:label "orofaciodigital syndrome 10" ; IAO:0000142 PMID:8261648 ; - oboInOwl:hasDbXref UMLS:C1833796 ; oboInOwl:hasExactSynonym "OFD10", "ofds 10", "oral-facial-digital syndrome with fibular aplasia", "oral-facial-digital syndrome, iia 10", "orofaciodigital syndrome 10", "orofaciodigital syndrome with fibular aplasia" ; - rdfs:subClassOf OMIMPS:311200 . + rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C1833796 . OMIM:165600 a owl:Class ; rdfs:label "orbital margin, hypoplasia of" ; IAO:0000142 PMID:14359373 ; - oboInOwl:hasDbXref UMLS:C1833795 ; - oboInOwl:hasExactSynonym "orbital margin, hypoplasia of" . + oboInOwl:hasExactSynonym "orbital margin, hypoplasia of" ; + skos:exactMatch UMLS:C1833795 . OMIM:165630 a owl:Class ; IAO:0100001 OMIM:163200 ; @@ -55280,10 +56650,10 @@ OMIM:165660 a owl:Class ; rdfs:label "oslam syndrome" ; IAO:0000142 PMID:201363, PMID:3409256 ; - oboInOwl:hasDbXref UMLS:C1833792 ; oboInOwl:hasExactSynonym "oslam syndrome", "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow", "osteosarcoma, limb anomalies, and macrocytosis" ; + skos:exactMatch UMLS:C1833792 ; biolink:category biolink:Disease . OMIM:165670 a owl:Class ; @@ -55291,14 +56661,14 @@ OMIM:165670 a owl:Class ; IAO:0000142 PMID:13170420, PMID:14074663, PMID:3990487 ; - oboInOwl:hasDbXref UMLS:C1833791 ; - oboInOwl:hasExactSynonym "ossified ear cartilages" . + oboInOwl:hasExactSynonym "ossified ear cartilages" ; + skos:exactMatch UMLS:C1833791 . OMIM:165680 a owl:Class ; rdfs:label "ossicular malformations, familial" ; IAO:0000142 PMID:3322009 ; - oboInOwl:hasDbXref UMLS:C1833790 ; - oboInOwl:hasExactSynonym "ossicular malformations, familial" . + oboInOwl:hasExactSynonym "ossicular malformations, familial" ; + skos:exactMatch UMLS:C1833790 . OMIM:165700 a owl:Class ; rdfs:label "thiemann disease" ; @@ -55309,10 +56679,10 @@ OMIM:165700 a owl:Class ; PMID:3962642, PMID:3981502, PMID:5398149 ; - oboInOwl:hasDbXref UMLS:C0264081 ; oboInOwl:hasExactSynonym "osteoarthropathy of fingers, familial", "thiemann disease", "thiemann epiphyseal disease" ; + skos:exactMatch UMLS:C0264081 ; biolink:category biolink:Disease . OMIM:165800 a owl:Class ; @@ -55337,12 +56707,12 @@ OMIM:165800 a owl:Class ; PMID:712980, PMID:7331787, PMID:7436535 ; - oboInOwl:hasDbXref UMLS:C3665488, - ORPHA:251262, - ORPHA:435804 ; oboInOwl:hasExactSynonym "SSOAOD", "osteochondritis dissecans, short stature, and early-onset osteoarthritis", "short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans" ; + skos:exactMatch UMLS:C3665488, + ORPHA:251262, + ORPHA:435804 ; biolink:category biolink:Disease . OMIM:166220 a owl:Class ; @@ -55368,19 +56738,19 @@ OMIM:166220 a owl:Class ; PMID:3759085, PMID:3782466, PMID:458828 ; - oboInOwl:hasDbXref UMLS:C0268363 ; oboInOwl:hasExactSynonym "OI4", "oi, iia 4", "osteogenesis imperfecta with normal sclerae", "osteogenesis imperfecta, iia 4" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C0268363 ; biolink:category biolink:Disease . OMIM:166230 a owl:Class ; rdfs:label "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures" ; IAO:0000142 PMID:7241530 ; - oboInOwl:hasDbXref UMLS:C1833748 ; - oboInOwl:hasExactSynonym "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures" . + oboInOwl:hasExactSynonym "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures" ; + skos:exactMatch UMLS:C1833748 . OMIM:166240 a owl:Class ; IAO:0100001 OMIM:166200 ; @@ -55398,10 +56768,10 @@ OMIM:166250 a owl:Class ; PMID:4309618, PMID:6606709, PMID:7422392 ; - oboInOwl:hasDbXref UMLS:C0432283 ; oboInOwl:hasExactSynonym "OGD", "osteoglophonic dwarfism", "osteoglophonic dysplasia" ; + skos:exactMatch UMLS:C0432283 ; biolink:category biolink:Disease . OMIM:166260 a owl:Class ; @@ -55414,11 +56784,11 @@ OMIM:166260 a owl:Class ; PMID:5816667, PMID:6517811, PMID:8958616 ; - oboInOwl:hasDbXref UMLS:C1833736 ; oboInOwl:hasExactSynonym "GDD", "gnathodiaphyseal dysplasia", "gnathodiaphyseal sclerosis", "osteogenesis imperfecta with unusual skeletal lesions" ; + skos:exactMatch UMLS:C1833736 ; biolink:category biolink:Disease . OMIM:166350 a owl:Class ; @@ -55439,17 +56809,17 @@ OMIM:166350 a owl:Class ; PMID:8126048, PMID:8200899, PMID:9768883 ; - oboInOwl:hasDbXref UMLS:C0334041 ; oboInOwl:hasExactSynonym "POH", "ectopic ossification, familial", "osseous heteroplasia, progressive", "osteoma cutis" ; + skos:exactMatch UMLS:C0334041 ; biolink:category biolink:Disease . OMIM:166400 a owl:Class ; rdfs:label "osteomas of mandible" ; - oboInOwl:hasDbXref UMLS:C1833733 ; - oboInOwl:hasExactSynonym "osteomas of mandible" . + oboInOwl:hasExactSynonym "osteomas of mandible" ; + skos:exactMatch UMLS:C1833733 . OMIM:166450 a owl:Class ; rdfs:label "osteomesopyknosis" ; @@ -55458,9 +56828,9 @@ OMIM:166450 a owl:Class ; PMID:7234905, PMID:7315848, PMID:7469692 ; - oboInOwl:hasDbXref UMLS:C0432264 ; oboInOwl:hasExactSynonym "axial osteosclerosis", - "osteomesopyknosis" . + "osteomesopyknosis" ; + skos:exactMatch UMLS:C0432264 . OMIM:166490 a owl:Class ; rdfs:label "SPP1" ; @@ -55498,7 +56868,6 @@ OMIM:166490 a owl:Class ; PMID:8923469, PMID:9386176, PMID:9525990 ; - oboInOwl:hasDbXref UMLS:C1420369 ; oboInOwl:hasExactSynonym "SPP1", "bone sialoprotein", "early t lymphocyte activation 1", @@ -55507,7 +56876,9 @@ OMIM:166490 a owl:Class ; "urinary stone protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6696 ; - skos:exactMatch HGNC_symbol:SPP1 ; + skos:exactMatch UMLS:C1420369, + HGNC:11255, + HGNC_symbol:SPP1 ; biolink:category biolink:Gene . OMIM:166500 a owl:Class ; @@ -55536,7 +56907,6 @@ OMIM:166600 a owl:Class ; PMID:6546410, PMID:7078404, PMID:8358946 ; - oboInOwl:hasDbXref UMLS:C3179239 ; oboInOwl:hasExactSynonym "OPTA2", "albers-schonberg disease, autosomal dominant", "marble bones, autosomal dominant", @@ -55544,13 +56914,14 @@ OMIM:166600 a owl:Class ; "osteopetrosis, autosomal dominant, iia 2", "osteosclerosis fragilis generalisata" ; rdfs:subClassOf OMIMPS:607634 ; + skos:exactMatch UMLS:C3179239 ; biolink:category biolink:Disease . OMIM:166705 a owl:Class ; rdfs:label "osteopoikilosis and dacryocystitis" ; IAO:0000142 PMID:8261652 ; - oboInOwl:hasDbXref UMLS:C1833698 ; - oboInOwl:hasExactSynonym "osteopoikilosis and dacryocystitis" . + oboInOwl:hasExactSynonym "osteopoikilosis and dacryocystitis" ; + skos:exactMatch UMLS:C1833698 . OMIM:166720 a owl:Class ; IAO:0100001 OMIM:130720 ; @@ -55566,13 +56937,13 @@ OMIM:166750 a owl:Class ; PMID:7227680, PMID:9565269 ; RO:0002525 CHR:9606chr11q13 ; - oboInOwl:hasDbXref UMLS:C1833693, - UMLS:C2750325 ; oboInOwl:hasExactSynonym "chromosome 11q13 deletion syndrome", "oculootodental syndrome", "otodental dysplasia", "otodental syndrome", "otodental syndrome with coloboma" ; + skos:exactMatch UMLS:C1833693, + UMLS:C2750325 ; biolink:category biolink:Disease . OMIM:166780 a owl:Class ; @@ -55581,12 +56952,12 @@ OMIM:166780 a owl:Class ; PMID:16441263, PMID:23851939, PMID:8558563 ; - oboInOwl:hasDbXref UMLS:C3714941, - ORPHA:2792 ; oboInOwl:hasExactSynonym "OTFCS", "ofc", "otofaciocervical syndrome 1" ; rdfs:subClassOf OMIMPS:166780 ; + skos:exactMatch UMLS:C3714941, + ORPHA:2792 ; biolink:category biolink:Disease . OMIM:166900 a owl:Class ; @@ -55610,21 +56981,21 @@ OMIM:166900 a owl:Class ; PMID:817597, PMID:8251392, PMID:8608262 ; - oboInOwl:hasDbXref UMLS:C1862322, - UMLS:C1862324 ; oboInOwl:hasExactSynonym "SAO", "elliptocytosis 4", "elliptocytosis, stomatocytic hereditary", "he, stomatocytic", "ovalocytosis, malaysian-melanesian-filipino iia", "ovalocytosis, southeast asian" ; + skos:exactMatch UMLS:C1862322, + UMLS:C1862324 ; biolink:category biolink:Disease . OMIM:166910 a owl:Class ; rdfs:label "ovalocytosis, hereditary hemolytic, with defective erythropoiesis" ; IAO:0000142 PMID:497120 ; - oboInOwl:hasDbXref UMLS:C1833689 ; - oboInOwl:hasExactSynonym "ovalocytosis, hereditary hemolytic, with defective erythropoiesis" . + oboInOwl:hasExactSynonym "ovalocytosis, hereditary hemolytic, with defective erythropoiesis" ; + skos:exactMatch UMLS:C1833689 . OMIM:166945 a owl:Class ; rdfs:label "NBR1" ; @@ -55633,14 +57004,15 @@ OMIM:166945 a owl:Class ; PMID:7997258, PMID:8069304, PMID:8700509 ; - oboInOwl:hasDbXref UMLS:C1538046 ; oboInOwl:hasExactSynonym "NBR1", "membrane component, chromosome 17, surface marker 2", "nbr1 autophagy cargo receptor", "neighbor of brca1 gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4077 ; - skos:exactMatch HGNC_symbol:NBR1 ; + skos:exactMatch UMLS:C1538046, + HGNC:6746, + HGNC_symbol:NBR1 ; biolink:category biolink:Gene . OMIM:166950 a owl:Class ; @@ -55651,21 +57023,21 @@ OMIM:166950 a owl:Class ; PMID:4826282, PMID:6363699, PMID:63792 ; - oboInOwl:hasDbXref UMLS:C0280131 ; oboInOwl:hasExactSynonym "dermoid cyst, ovarian", - "teratoma, ovarian" . + "teratoma, ovarian" ; + skos:exactMatch UMLS:C0280131 . OMIM:166970 a owl:Class ; rdfs:label "ovarian fibromata" ; IAO:0000142 PMID:702240 ; - oboInOwl:hasDbXref UMLS:C0149951 ; - oboInOwl:hasExactSynonym "ovarian fibromata" . + oboInOwl:hasExactSynonym "ovarian fibromata" ; + skos:exactMatch UMLS:C0149951 . OMIM:166990 a owl:Class ; rdfs:label "osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" ; IAO:0000142 PMID:1897572 ; - oboInOwl:hasDbXref UMLS:C1833688 ; - oboInOwl:hasExactSynonym "osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" . + oboInOwl:hasExactSynonym "osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension" ; + skos:exactMatch UMLS:C1833688 . OMIM:167040 a owl:Class ; rdfs:label "OSBP" ; @@ -55673,13 +57045,14 @@ OMIM:167040 a owl:Class ; PMID:15746430, PMID:16136145, PMID:1970801 ; - oboInOwl:hasDbXref UMLS:C1418188 ; oboInOwl:hasExactSynonym "OSBP", "osbp1", "oxysterol-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5007 ; - skos:exactMatch HGNC_symbol:OSBP ; + skos:exactMatch UMLS:C1418188, + HGNC:8503, + HGNC_symbol:OSBP ; biolink:category biolink:Gene . OMIM:167050 a owl:Class ; @@ -55699,7 +57072,6 @@ OMIM:167050 a owl:Class ; PMID:6153132, PMID:8432536, PMID:9501254 ; - oboInOwl:hasDbXref UMLS:C1418208 ; oboInOwl:hasExactSynonym "OXT", "neurophysin 1", "ot", @@ -55708,7 +57080,9 @@ OMIM:167050 a owl:Class ; "preprooxytocin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5020 ; - skos:exactMatch HGNC_symbol:OXT ; + skos:exactMatch UMLS:C1418208, + HGNC:8528, + HGNC_symbol:OXT ; biolink:category biolink:Gene . OMIM:167055 a owl:Class ; @@ -55719,26 +57093,27 @@ OMIM:167055 a owl:Class ; PMID:20647384, PMID:7607693, PMID:7798245 ; - oboInOwl:hasDbXref UMLS:C1418209 ; oboInOwl:hasExactSynonym "OXTR", "otr", "oxytocin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5021 ; - skos:exactMatch HGNC_symbol:OXTR ; + skos:exactMatch UMLS:C1418209, + HGNC:8529, + HGNC_symbol:OXTR ; biolink:category biolink:Gene . OMIM:167100 a owl:Class ; rdfs:label "hypertrophic osteoarthropathy, primary, autosomal dominant" ; IAO:0000142 PMID:14274448, PMID:16283874 ; - oboInOwl:hasDbXref UMLS:C2674695 ; oboInOwl:hasExactSynonym "PHOAD", "hypertrophic osteoarthropathy, primary, autosomal dominant", "pachydermoperiostosis, autosomal dominant", "pdp, autosomal dominant", "pho, autosomal dominant" ; rdfs:subClassOf OMIMPS:259100 ; + skos:exactMatch UMLS:C2674695 ; biolink:category biolink:Disease . OMIM:167200 a owl:Class ; @@ -55767,13 +57142,13 @@ OMIM:167200 a owl:Class ; PMID:8252777, PMID:8698920, PMID:9618173 ; - oboInOwl:hasDbXref UMLS:C1706595, - ORPHA:2309 ; oboInOwl:hasExactSynonym "PC1", "jadassohn-lewandowsky syndrome, formerly", "pachyonychia congenita 1", "pachyonychia congenita, jadassohn-lewandowsky type, formerly" ; rdfs:subClassOf OMIMPS:167200 ; + skos:exactMatch UMLS:C1706595, + ORPHA:2309 ; biolink:category biolink:Disease . OMIM:167210 a owl:Class ; @@ -55790,11 +57165,11 @@ OMIM:167210 a owl:Class ; PMID:7529318, PMID:7539673, PMID:9618173 ; - oboInOwl:hasDbXref UMLS:C1721007 ; oboInOwl:hasExactSynonym "PC2", "pachyonychia congenita 2", "pachyonychia congenita, jackson-lawler type, formerly" ; rdfs:subClassOf OMIMPS:167200 ; + skos:exactMatch UMLS:C1721007 ; biolink:category biolink:Disease . OMIM:167220 a owl:Class ; @@ -55805,16 +57180,16 @@ OMIM:167220 a owl:Class ; PMID:16419131, PMID:8456823, PMID:9600734 ; - oboInOwl:hasDbXref UMLS:C1833676 ; oboInOwl:hasExactSynonym "epiphyseal stippling with osteoclastic hyperplasia", - "pacman dysplasia" . + "pacman dysplasia" ; + skos:exactMatch UMLS:C1833676 . OMIM:167300 a owl:Class ; rdfs:label "paget disease, extramammary" ; IAO:0000142 PMID:13953662, PMID:4345608 ; - oboInOwl:hasDbXref UMLS:C0030186 ; - oboInOwl:hasExactSynonym "paget disease, extramammary" . + oboInOwl:hasExactSynonym "paget disease, extramammary" ; + skos:exactMatch UMLS:C0030186 . OMIM:167400 a owl:Class ; rdfs:label "paroxysmal extreme pain disorder" ; @@ -55824,11 +57199,11 @@ OMIM:167400 a owl:Class ; PMID:24817410, PMID:4111621, PMID:4112340 ; - oboInOwl:hasDbXref UMLS:C1833661 ; oboInOwl:hasExactSynonym "pain, submandibular, ocular, and rectal, with flushing", "paroxysmal extreme pain disorder", "pexpd", "rectal pain, familial" ; + skos:exactMatch UMLS:C1833661 ; biolink:category biolink:Disease . OMIM:167405 a owl:Class ; @@ -55836,14 +57211,15 @@ OMIM:167405 a owl:Class ; IAO:0000142 PMID:1741956, PMID:26908617, PMID:7782070 ; - oboInOwl:hasDbXref UMLS:C1538604 ; oboInOwl:hasExactSynonym "PCSK6", "paired basic amino acid cleaving enzyme 4", "proprotein convertase subtilisin/kexin iia 6", "spc4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5046 ; - skos:exactMatch HGNC_symbol:PCSK6 ; + skos:exactMatch UMLS:C1538604, + HGNC:8569, + HGNC_symbol:PCSK6 ; biolink:category biolink:Gene . OMIM:167409 a owl:Class ; @@ -55888,12 +57264,13 @@ OMIM:167409 a owl:Class ; PMID:9916932 ; RO:0002525 CHR:9606chr10q24.31 ; RO:0003303 OMIM:120330 ; - oboInOwl:hasDbXref UMLS:C1418274 ; oboInOwl:hasExactSynonym "PAX2", "paired box gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5076 ; - skos:exactMatch HGNC_symbol:PAX2 ; + skos:exactMatch UMLS:C1418274, + HGNC:8616, + HGNC_symbol:PAX2 ; biolink:category biolink:Gene . OMIM:167410 a owl:Class ; @@ -55920,15 +57297,16 @@ OMIM:167410 a owl:Class ; PMID:9339373 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:268220 ; - oboInOwl:hasDbXref UMLS:C1335194, - UMLS:C1850988 ; oboInOwl:hasExactSynonym "PAX7", "paired box gene 7", "paired domain gene hup1", "pax7/fkhr fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5081 ; - skos:exactMatch HGNC_symbol:PAX7 ; + skos:exactMatch UMLS:C1335194, + UMLS:C1850988, + HGNC:8621, + HGNC_symbol:PAX7 ; biolink:category biolink:Gene . OMIM:167411 a owl:Class ; @@ -55955,13 +57333,14 @@ OMIM:167411 a owl:Class ; PMID:9671740 ; RO:0002525 CHR:9606chr20p11.22 ; RO:0003303 OMIM:615560 ; - oboInOwl:hasDbXref UMLS:C1418273 ; oboInOwl:hasExactSynonym "PAX1", "paired box gene 1", "paired domain gene hup48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5075 ; - skos:exactMatch HGNC_symbol:PAX1 ; + skos:exactMatch UMLS:C1418273, + HGNC:8615, + HGNC_symbol:PAX1 ; biolink:category biolink:Gene . OMIM:167413 a owl:Class ; @@ -55983,16 +57362,17 @@ OMIM:167413 a owl:Class ; PMID:9598721 ; RO:0002525 CHR:9606chr7q32.1 ; RO:0003303 OMIM:612227 ; - oboInOwl:hasDbXref UMLS:C0011860, - UMLS:C1418275, - UMLS:C2677132, - UMLS:C4016306 ; oboInOwl:hasExactSynonym "PAX4", "paired box gene 4", "paired domain gene 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5078 ; - skos:exactMatch HGNC_symbol:PAX4 ; + skos:exactMatch UMLS:C0011860, + UMLS:C1418275, + UMLS:C2677132, + UMLS:C4016306, + HGNC:8618, + HGNC_symbol:PAX4 ; biolink:category biolink:Gene . OMIM:167414 a owl:Class ; @@ -56026,9 +57406,6 @@ OMIM:167414 a owl:Class ; PMID:8650231 ; RO:0002525 CHR:9606chr9p13.2 ; RO:0003303 OMIM:615545 ; - oboInOwl:hasDbXref UMLS:C1335193, - UMLS:C2751104, - UMLS:C3809874 ; oboInOwl:hasExactSynonym "PAX5", "b-cell lineage-specific activator protein", "paired box gene 5", @@ -56036,7 +57413,11 @@ OMIM:167414 a owl:Class ; "pax5/nol4l fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5079 ; - skos:exactMatch HGNC_symbol:PAX5 ; + skos:exactMatch UMLS:C1335193, + UMLS:C2751104, + UMLS:C3809874, + HGNC:8619, + HGNC_symbol:PAX5 ; biolink:category biolink:Gene . OMIM:167415 a owl:Class ; @@ -56064,15 +57445,16 @@ OMIM:167415 a owl:Class ; PMID:9590297 ; RO:0002525 CHR:9606chr2q14.1 ; RO:0003303 OMIM:218700 ; - oboInOwl:hasDbXref UMLS:C1418277, - UMLS:C1833640 ; oboInOwl:hasExactSynonym "PAX8", "paired box gene 8", "paired domain gene 8", "pax8/pparg fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7849 ; - skos:exactMatch HGNC_symbol:PAX8 ; + skos:exactMatch UMLS:C1418277, + UMLS:C1833640, + HGNC:8622, + HGNC_symbol:PAX8 ; biolink:category biolink:Gene . OMIM:167416 a owl:Class ; @@ -56099,14 +57481,15 @@ OMIM:167416 a owl:Class ; PMID:9732271 ; RO:0002525 CHR:9606chr14q13.3 ; RO:0003303 OMIM:604625 ; - oboInOwl:hasDbXref UMLS:C1418278, - UMLS:C1970291 ; oboInOwl:hasExactSynonym "PAX9", "paired box gene 9", "paired domain gene 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5083 ; - skos:exactMatch HGNC_symbol:PAX9 ; + skos:exactMatch UMLS:C1418278, + UMLS:C1970291, + HGNC:8623, + HGNC_symbol:PAX9 ; biolink:category biolink:Gene . OMIM:167420 a owl:Class ; @@ -56126,7 +57509,6 @@ OMIM:167420 a owl:Class ; PMID:9729491 ; RO:0002525 CHR:9606chr1q24.2 ; RO:0003303 OMIM:202650 ; - oboInOwl:hasDbXref UMLS:C1418696 ; oboInOwl:hasExactSynonym "PRRX1", "paired mesoderm homeobox 1", "paired-related homeobox gene 1", @@ -56134,7 +57516,9 @@ OMIM:167420 a owl:Class ; "prx1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5396 ; - skos:exactMatch HGNC_symbol:PRRX1 ; + skos:exactMatch UMLS:C1418696, + HGNC:9142, + HGNC_symbol:PRRX1 ; biolink:category biolink:Gene . OMIM:167500 a owl:Class ; @@ -56143,22 +57527,22 @@ OMIM:167500 a owl:Class ; PMID:14986834, PMID:7296935, PMID:9557885 ; - oboInOwl:hasDbXref UMLS:C0042454 ; oboInOwl:hasExactSynonym "palatopharyngeal incompetence", "velopharyngeal incompetence", "velopharyngeal insufficiency" ; + skos:exactMatch UMLS:C0042454 ; biolink:category biolink:Disease . OMIM:167600 a owl:Class ; rdfs:label "palmaris longus muscle, absence of" ; - oboInOwl:hasDbXref UMLS:C1868661 ; - oboInOwl:hasExactSynonym "palmaris longus muscle, absence of" . + oboInOwl:hasExactSynonym "palmaris longus muscle, absence of" ; + skos:exactMatch UMLS:C1868661 . OMIM:167700 a owl:Class ; rdfs:label "palmomental reflex" ; IAO:0000142 PMID:5899190 ; - oboInOwl:hasDbXref UMLS:C0751470 ; - oboInOwl:hasExactSynonym "palmomental reflex" . + oboInOwl:hasExactSynonym "palmomental reflex" ; + skos:exactMatch UMLS:C0751470 . OMIM:167730 a owl:Class ; rdfs:label "nasopalpebral lipoma-coloboma syndrome" ; @@ -56167,10 +57551,10 @@ OMIM:167730 a owl:Class ; PMID:23636874, PMID:27139419, PMID:7091184 ; - oboInOwl:hasDbXref UMLS:C1868660 ; oboInOwl:hasExactSynonym "NPLCS", "nasopalpebral lipoma-coloboma syndrome", "palpebral coloboma-lipoma syndrome" ; + skos:exactMatch UMLS:C1868660 ; biolink:category biolink:Disease . OMIM:167750 a owl:Class ; @@ -56183,14 +57567,14 @@ OMIM:167750 a owl:Class ; PMID:677171, PMID:8418645, PMID:8533856 ; - oboInOwl:hasDbXref UMLS:C0149955 ; - oboInOwl:hasExactSynonym "pancreas, annular" . + oboInOwl:hasExactSynonym "pancreas, annular" ; + skos:exactMatch UMLS:C0149955 . OMIM:167755 a owl:Class ; rdfs:label "pancreas, dorsal, agenesis of" ; IAO:0000142 PMID:8462806 ; - oboInOwl:hasDbXref UMLS:C1868659 ; - oboInOwl:hasExactSynonym "pancreas, dorsal, agenesis of" . + oboInOwl:hasExactSynonym "pancreas, dorsal, agenesis of" ; + skos:exactMatch UMLS:C1868659 . OMIM:167770 a owl:Class ; rdfs:label "REG1A" ; @@ -56212,7 +57596,6 @@ OMIM:167770 a owl:Class ; PMID:8340418, PMID:8348956, PMID:8549770 ; - oboInOwl:hasDbXref UMLS:C1419333 ; oboInOwl:hasExactSynonym "REG1A", "lithostathine", "pancreatic stone protein, secretory", @@ -56220,7 +57603,9 @@ OMIM:167770 a owl:Class ; "regenerating islet-derived, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5967 ; - skos:exactMatch HGNC_symbol:REG1A ; + skos:exactMatch UMLS:C1419333, + HGNC:9951, + HGNC_symbol:REG1A ; biolink:category biolink:Gene . OMIM:167771 a owl:Class ; @@ -56230,7 +57615,6 @@ OMIM:167771 a owl:Class ; PMID:8333731, PMID:8348956, PMID:8549770 ; - oboInOwl:hasDbXref UMLS:C1419334 ; oboInOwl:hasExactSynonym "REG1B", "pancreatic stone protein, secretory, 2", "reg i-beta", @@ -56238,7 +57622,9 @@ OMIM:167771 a owl:Class ; "regenerating islet-derived, rat, homolog-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5968 ; - skos:exactMatch HGNC_symbol:REG1B ; + skos:exactMatch UMLS:C1419334, + HGNC:9952, + HGNC_symbol:REG1B ; biolink:category biolink:Gene . OMIM:167780 a owl:Class ; @@ -56256,13 +57642,14 @@ OMIM:167780 a owl:Class ; PMID:8088848, PMID:8244379, PMID:8244380 ; - oboInOwl:hasDbXref UMLS:C1418856 ; oboInOwl:hasExactSynonym "PPY", "pancreatic polypeptide/pancreatic icosapeptide", "pnp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5539 ; - skos:exactMatch HGNC_symbol:PPY ; + skos:exactMatch UMLS:C1418856, + HGNC:9327, + HGNC_symbol:PPY ; biolink:category biolink:Gene . OMIM:167790 a owl:Class ; @@ -56284,14 +57671,15 @@ OMIM:167790 a owl:Class ; PMID:9679668 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:608189 ; - oboInOwl:hasDbXref UMLS:C0812377 ; oboInOwl:hasExactSynonym "SPINK1", "pancreatic secretory trypsin inhibitor", "serine protease inhibitor, kazal-type, 1", "tumor-associated trypsin inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6690 ; - skos:exactMatch HGNC_symbol:SPINK1 ; + skos:exactMatch UMLS:C0812377, + HGNC:11244, + HGNC_symbol:SPINK1 ; biolink:category biolink:Gene . OMIM:167805 a owl:Class ; @@ -56304,7 +57692,6 @@ OMIM:167805 a owl:Class ; PMID:8188210, PMID:8314803, PMID:9151782 ; - oboInOwl:hasDbXref UMLS:C1538823 ; oboInOwl:hasExactSynonym "REG3A", "islet neogenesis-associated protein", "pancreatitis-associated protein", @@ -56312,13 +57699,15 @@ OMIM:167805 a owl:Class ; "regenerating islet-derived 3-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5068 ; - skos:exactMatch HGNC_symbol:REG3A ; + skos:exactMatch UMLS:C1538823, + HGNC:8601, + HGNC_symbol:REG3A ; biolink:category biolink:Gene . OMIM:167850 a owl:Class ; rdfs:label "pancytopenia and occlusive vascular disease" ; - oboInOwl:hasDbXref UMLS:C1868652 ; - oboInOwl:hasExactSynonym "pancytopenia and occlusive vascular disease" . + oboInOwl:hasExactSynonym "pancytopenia and occlusive vascular disease" ; + skos:exactMatch UMLS:C1868652 . OMIM:167900 a owl:Class ; rdfs:label "papillomatosis, confluent and reticulated" ; @@ -56327,18 +57716,18 @@ OMIM:167900 a owl:Class ; PMID:16827916, PMID:5835327, PMID:7316560 ; - oboInOwl:hasDbXref UMLS:C0263385 ; oboInOwl:hasExactSynonym "CARP", "papillomatosis, confluent and reticulated", "papillomatosis, familial cutaneous", "papillomatosis, reticulated and confluent, of gougerot and carteaud" ; + skos:exactMatch UMLS:C0263385 ; biolink:category biolink:Disease . OMIM:167950 a owl:Class ; rdfs:label "papillomatosis, florid, of nipple" ; IAO:0000142 PMID:4333890 ; - oboInOwl:hasDbXref UMLS:C1868647 ; - oboInOwl:hasExactSynonym "papillomatosis, florid, of nipple" . + oboInOwl:hasExactSynonym "papillomatosis, florid, of nipple" ; + skos:exactMatch UMLS:C1868647 . OMIM:168000 a owl:Class ; rdfs:label "paragangliomas 1" ; @@ -56392,9 +57781,6 @@ OMIM:168000 a owl:Class ; PMID:9295078, PMID:9683583, PMID:9781639 ; - oboInOwl:hasDbXref UMLS:C0007279, - UMLS:C0030421, - UMLS:C1868633 ; oboInOwl:hasExactSynonym "PGL1", "carotid body tumors", "chemodectomas", @@ -56407,21 +57793,24 @@ OMIM:168000 a owl:Class ; "paragangliomas, familial, 1", "paragangliomata" ; rdfs:subClassOf OMIMPS:168000 ; + skos:exactMatch UMLS:C0007279, + UMLS:C0030421, + UMLS:C1868633 ; biolink:category biolink:Disease . OMIM:168100 a owl:Class ; rdfs:label "paralysis agitans, juvenile, of hunt" ; IAO:0000142 PMID:4398909, PMID:942621 ; - oboInOwl:hasDbXref UMLS:C0238344 ; oboInOwl:hasExactSynonym "paralysis agitans, juvenile, of hunt", - "parkinson disease, juvenile, of hunt" . + "parkinson disease, juvenile, of hunt" ; + skos:exactMatch UMLS:C0238344 . OMIM:168200 a owl:Class ; rdfs:label "paramolar tubercle of bolk" ; - oboInOwl:hasDbXref UMLS:C0266029 ; oboInOwl:hasExactSynonym "bolk cusp", - "paramolar tubercle of bolk" . + "paramolar tubercle of bolk" ; + skos:exactMatch UMLS:C0266029 . OMIM:168350 a owl:Class ; IAO:0100001 OMIM:168300 ; @@ -56440,7 +57829,6 @@ OMIM:168360 a owl:Class ; PMID:8969225, PMID:8969226, PMID:9344654 ; - oboInOwl:hasDbXref UMLS:C1414374 ; oboInOwl:hasExactSynonym "ELAVL4", "elav-like rna-binding protein 4", "embryonic lethal, abnormal vision, drosophila, homolog-like 4", @@ -56448,7 +57836,9 @@ OMIM:168360 a owl:Class ; "paraneoplastic encephalomyelitis antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1996 ; - skos:exactMatch HGNC_symbol:ELAVL4 ; + skos:exactMatch UMLS:C1414374, + HGNC:3315, + HGNC_symbol:ELAVL4 ; biolink:category biolink:Gene . OMIM:168400 a owl:Class ; @@ -56456,20 +57846,21 @@ OMIM:168400 a owl:Class ; IAO:0000142 PMID:20503319, PMID:4992387, PMID:956253 ; - oboInOwl:hasDbXref UMLS:C1868616 ; oboInOwl:hasExactSynonym "parastremmatic dwarfism" ; + skos:exactMatch UMLS:C1868616 ; biolink:category biolink:Disease . OMIM:168440 a owl:Class ; rdfs:label "PTMS" ; IAO:0000142 PMID:2537638, PMID:2776490 ; - oboInOwl:hasDbXref UMLS:C1419086 ; oboInOwl:hasExactSynonym "PTMS", "parathymosin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5763 ; - skos:exactMatch HGNC_symbol:PTMS ; + skos:exactMatch UMLS:C1419086, + HGNC:9629, + HGNC_symbol:PTMS ; biolink:category biolink:Gene . OMIM:168450 a owl:Class ; @@ -56510,16 +57901,17 @@ OMIM:168450 a owl:Class ; PMID:9817594 ; RO:0002525 CHR:9606chr11p15.3 ; RO:0003303 OMIM:146200 ; - oboInOwl:hasDbXref UMLS:C0221002, - UMLS:C1419072, - UMLS:C5241444 ; oboInOwl:hasExactSynonym "PTH", "parathormone", "parathyrin", "parathyroid hormone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5741 ; - skos:exactMatch HGNC_symbol:PTH ; + skos:exactMatch UMLS:C0221002, + UMLS:C1419072, + UMLS:C5241444, + HGNC:9606, + HGNC_symbol:PTH ; biolink:category biolink:Gene . OMIM:168460 a owl:Class ; @@ -56585,8 +57977,6 @@ OMIM:168461 a owl:Class ; PMID:9707579 ; RO:0002525 CHR:9606chr11q13.3 ; RO:0003303 OMIM:193300 ; - oboInOwl:hasDbXref UMLS:C1413172, - UMLS:C1868611 ; oboInOwl:hasExactSynonym "CCND1", "b-cell cll/lymphoma 1", "b-cell leukemia 1", @@ -56598,7 +57988,10 @@ OMIM:168461 a owl:Class ; "parathyroid adenomatosis 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:595 ; - skos:exactMatch HGNC_symbol:CCND1 ; + skos:exactMatch UMLS:C1413172, + UMLS:C1868611, + HGNC:1582, + HGNC_symbol:CCND1 ; biolink:category biolink:Gene . OMIM:168468 a owl:Class ; @@ -56642,11 +58035,6 @@ OMIM:168468 a owl:Class ; PMID:9745456 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:156400 ; - oboInOwl:hasDbXref UMLS:C0265295, - UMLS:C1419073, - UMLS:C1838779, - UMLS:C1852222, - UMLS:C1859148 ; oboInOwl:hasExactSynonym "PTH1R", "parathyroid hormone 1 receptor", "parathyroid hormone receptor 1", @@ -56655,7 +58043,13 @@ OMIM:168468 a owl:Class ; "pth/pthrp receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5745 ; - skos:exactMatch HGNC_symbol:PTH1R ; + skos:exactMatch UMLS:C0265295, + UMLS:C1419073, + UMLS:C1838779, + UMLS:C1852222, + UMLS:C1859148, + HGNC:9608, + HGNC_symbol:PTH1R ; biolink:category biolink:Gene . OMIM:168470 a owl:Class ; @@ -56689,7 +58083,6 @@ OMIM:168470 a owl:Class ; PMID:9751753 ; RO:0002525 CHR:9606chr12p11.22 ; RO:0003303 OMIM:613382 ; - oboInOwl:hasDbXref UMLS:C1335272 ; oboInOwl:hasExactSynonym "PTHLH", "parathyroid hormone-like hormone", "parathyroid hormone-related protein", @@ -56697,7 +58090,9 @@ OMIM:168470 a owl:Class ; "pthr, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5744 ; - skos:exactMatch HGNC_symbol:PTHLH ; + skos:exactMatch UMLS:C1335272, + HGNC:9607, + HGNC_symbol:PTHLH ; biolink:category biolink:Gene . OMIM:168500 a owl:Class ; @@ -56714,8 +58109,6 @@ OMIM:168500 a owl:Class ; PMID:5481147, PMID:9714003, PMID:9714004 ; - oboInOwl:hasDbXref UMLS:C1868598, - UMLS:C1868599 ; oboInOwl:hasExactSynonym "PFM1", "catlin marks", "cranium bifidum occultum", @@ -56725,6 +58118,8 @@ OMIM:168500 a owl:Class ; "parietal foramina, symmetric", "pfm" ; rdfs:subClassOf OMIMPS:168500 ; + skos:exactMatch UMLS:C1868598, + UMLS:C1868599 ; biolink:category biolink:Disease . OMIM:168605 a owl:Class ; @@ -56739,10 +58134,10 @@ OMIM:168605 a owl:Class ; PMID:24343258, PMID:3352925, PMID:43704 ; - oboInOwl:hasDbXref UMLS:C1868594, - ORPHA:178509 ; oboInOwl:hasExactSynonym "parkinsonism with alveolar hypoventilation and mental depression", "perry syndrome" ; + skos:exactMatch UMLS:C1868594, + ORPHA:178509 ; biolink:category biolink:Disease . OMIM:168610 a owl:Class ; @@ -56754,8 +58149,8 @@ OMIM:168710 a owl:Class ; IAO:0000142 PMID:2984928, PMID:3922350, PMID:4053693 ; - oboInOwl:hasDbXref UMLS:C1868593 ; - oboInOwl:hasExactSynonym "parotid proline-rich salivary protein pc" . + oboInOwl:hasExactSynonym "parotid proline-rich salivary protein pc" ; + skos:exactMatch UMLS:C1868593 . OMIM:168730 a owl:Class ; rdfs:label "PRH1" ; @@ -56773,7 +58168,6 @@ OMIM:168730 a owl:Class ; PMID:803012, PMID:803013, PMID:903160 ; - oboInOwl:hasDbXref UMLS:C1418892 ; oboInOwl:hasExactSynonym "PRH1", "acidic salivary proline-rich protein, haeiii type, 1", "parotid acidic protein", @@ -56782,7 +58176,9 @@ OMIM:168730 a owl:Class ; "proline-rich protein, haeiii subfamily, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5554 ; - skos:exactMatch HGNC_symbol:PRH1 ; + skos:exactMatch UMLS:C1418892, + HGNC:9366, + HGNC_symbol:PRH1 ; biolink:category biolink:Gene . OMIM:168790 a owl:Class ; @@ -56797,20 +58193,21 @@ OMIM:168790 a owl:Class ; PMID:4706325, PMID:6095444, PMID:9556667 ; - oboInOwl:hasDbXref UMLS:C1418893 ; oboInOwl:hasExactSynonym "PRH2", "acidic salivary proline-rich protein, haeiii type, 2", "parotid proline-rich protein", "proline-rich protein, haeiii subfamily, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5555 ; - skos:exactMatch HGNC_symbol:PRH2 ; + skos:exactMatch UMLS:C1418893, + HGNC:9367, + HGNC_symbol:PRH2 ; biolink:category biolink:Gene . OMIM:168800 a owl:Class ; rdfs:label "parotidomegaly, hereditary bilateral" ; - oboInOwl:hasDbXref UMLS:C1868590 ; - oboInOwl:hasExactSynonym "parotidomegaly, hereditary bilateral" . + oboInOwl:hasExactSynonym "parotidomegaly, hereditary bilateral" ; + skos:exactMatch UMLS:C1868590 . OMIM:168810 a owl:Class ; rdfs:label "PRB2" ; @@ -56821,7 +58218,6 @@ OMIM:168810 a owl:Class ; PMID:3478299, PMID:6344862, PMID:7437007 ; - oboInOwl:hasDbXref UMLS:C1418867 ; oboInOwl:hasExactSynonym "PRB2", "basic salivary proline-rich protein, bstni type, 2", "con1", @@ -56829,7 +58225,9 @@ OMIM:168810 a owl:Class ; "proline-rich protein, bstni subfamily, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653247 ; - skos:exactMatch HGNC_symbol:PRB2 ; + skos:exactMatch UMLS:C1418867, + HGNC:9338, + HGNC_symbol:PRB2 ; biolink:category biolink:Gene . OMIM:168820 a owl:Class ; @@ -56891,11 +58289,6 @@ OMIM:168820 a owl:Class ; PMID:9685159, PMID:9714608 ; RO:0002525 CHR:9606chr7q21.3 ; - oboInOwl:hasDbXref UMLS:C1418754, - UMLS:C1840169, - UMLS:C2674662, - UMLS:C2674663, - UMLS:C3149706 ; oboInOwl:hasExactSynonym "PON1", "arylesterase", "coronary artery disease, susceptibility to", @@ -56908,7 +58301,13 @@ OMIM:168820 a owl:Class ; "pon1 enzyme activity, variation 1n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5444 ; - skos:exactMatch HGNC_symbol:PON1 ; + skos:exactMatch UMLS:C1418754, + UMLS:C1840169, + UMLS:C2674662, + UMLS:C2674663, + UMLS:C3149706, + HGNC:9204, + HGNC_symbol:PON1 ; biolink:category biolink:Gene . OMIM:168830 a owl:Class ; @@ -56921,8 +58320,8 @@ OMIM:168830 a owl:Class ; PMID:661933, PMID:692557, PMID:8689338 ; - oboInOwl:hasDbXref UMLS:C3149707 ; - oboInOwl:hasExactSynonym "passovoy factor defect" . + oboInOwl:hasExactSynonym "passovoy factor defect" ; + skos:exactMatch UMLS:C3149707 . OMIM:168840 a owl:Class ; rdfs:label "PRB3" ; @@ -56932,14 +58331,15 @@ OMIM:168840 a owl:Class ; PMID:3840016, PMID:496391, PMID:7437007 ; - oboInOwl:hasDbXref UMLS:C1418868 ; oboInOwl:hasExactSynonym "PRB3", "basic salivary proline-rich protein, bstni type, 3", "parotid salivary glycoprotein", "proline-rich protein, bstni subfamily, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5544 ; - skos:exactMatch HGNC_symbol:PRB3 ; + skos:exactMatch UMLS:C1418868, + HGNC:9339, + HGNC_symbol:PRB3 ; biolink:category biolink:Gene . OMIM:168850 a owl:Class ; @@ -56953,8 +58353,8 @@ OMIM:168885 a owl:Class ; PMID:2910287, PMID:3209843, PMID:8495825 ; - oboInOwl:hasDbXref UMLS:C1868576 ; - oboInOwl:hasExactSynonym "paroxysmal tonic upgaze, benign childhood, with ataxia" . + oboInOwl:hasExactSynonym "paroxysmal tonic upgaze, benign childhood, with ataxia" ; + skos:exactMatch UMLS:C1868576 . OMIM:168890 a owl:Class ; rdfs:label "PVALB" ; @@ -56966,19 +58366,20 @@ OMIM:168890 a owl:Class ; PMID:24336286, PMID:2572511, PMID:3036821 ; - oboInOwl:hasDbXref UMLS:C1419140 ; oboInOwl:hasExactSynonym "PVALB", "parvalbumin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5816 ; - skos:exactMatch HGNC_symbol:PVALB ; + skos:exactMatch UMLS:C1419140, + HGNC:9704, + HGNC_symbol:PVALB ; biolink:category biolink:Gene . OMIM:168900 a owl:Class ; rdfs:label "patella, chondromalacia of" ; IAO:0000142 PMID:14083144 ; - oboInOwl:hasDbXref UMLS:C0008475 ; oboInOwl:hasExactSynonym "patella, chondromalacia of" ; + skos:exactMatch UMLS:C0008475 ; biolink:category biolink:Disease . OMIM:169000 a owl:Class ; @@ -56986,46 +58387,47 @@ OMIM:169000 a owl:Class ; IAO:0000142 PMID:14448619, PMID:3342544, PMID:659465 ; - oboInOwl:hasDbXref UMLS:C1868575 ; oboInOwl:hasExactSynonym "patella, familial recurrent dislocation of" ; + skos:exactMatch UMLS:C1868575 ; biolink:category biolink:Disease . OMIM:169170 a owl:Class ; rdfs:label "patterson pseudoleprechaunism syndrome" ; IAO:0000142 PMID:14484402, PMID:7277424 ; - oboInOwl:hasDbXref UMLS:C1868546 ; - oboInOwl:hasExactSynonym "patterson pseudoleprechaunism syndrome" . + oboInOwl:hasExactSynonym "patterson pseudoleprechaunism syndrome" ; + skos:exactMatch UMLS:C1868546 . OMIM:169190 a owl:Class ; rdfs:label "CDK18" ; IAO:0000142 PMID:1437147, PMID:1639063, PMID:8088790 ; - oboInOwl:hasDbXref UMLS:C1418394 ; oboInOwl:hasExactSynonym "CDK18", "cyclin-dependent kinase 18", "pctaire protein kinase 3", "pctaire3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5129 ; - skos:exactMatch HGNC_symbol:CDK18 ; + skos:exactMatch UMLS:C1418394, + HGNC:8751, + HGNC_symbol:CDK18 ; biolink:category biolink:Gene . OMIM:169200 a owl:Class ; rdfs:label "pechet factor deficiency" ; IAO:0000142 PMID:5589296 ; - oboInOwl:hasDbXref UMLS:C1868545 ; oboInOwl:hasExactSynonym "dynia factor deficiency", - "pechet factor deficiency" . + "pechet factor deficiency" ; + skos:exactMatch UMLS:C1868545 . OMIM:169300 a owl:Class ; rdfs:label "pectus excavatum" ; IAO:0000142 PMID:20268692, PMID:3591831 ; - oboInOwl:hasDbXref UMLS:C0016842 ; oboInOwl:hasExactSynonym "funnel chest", - "pectus excavatum" . + "pectus excavatum" ; + skos:exactMatch UMLS:C0016842 . OMIM:169500 a owl:Class ; rdfs:label "leukodystrophy, demyelinating, adult-onset, autosomal dominant" ; @@ -57049,17 +58451,17 @@ OMIM:169500 a owl:Class ; PMID:6472420, PMID:8042923, PMID:9018034 ; - oboInOwl:hasDbXref UMLS:C1868512 ; oboInOwl:hasExactSynonym "ADLD", "leukodystrophy, demyelinating, adult-onset, autosomal dominant", "pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly" ; + skos:exactMatch UMLS:C1868512 ; biolink:category biolink:Disease . OMIM:169545 a owl:Class ; rdfs:label "pelvic lipomatosis with crossed renal ectopia" ; IAO:0000142 PMID:1511984 ; - oboInOwl:hasDbXref UMLS:C1868511 ; oboInOwl:hasExactSynonym "pelvic lipomatosis with crossed renal ectopia" ; + skos:exactMatch UMLS:C1868511 ; biolink:category biolink:Disease . OMIM:169550 a owl:Class ; @@ -57069,10 +58471,10 @@ OMIM:169550 a owl:Class ; PMID:4994116, PMID:7103674, PMID:9732492 ; - oboInOwl:hasDbXref UMLS:C1868508 ; oboInOwl:hasExactSynonym "kosenow syndrome", "pelvis-shoulder dysplasia", - "scapuloiliac dysostosis" . + "scapuloiliac dysostosis" ; + skos:exactMatch UMLS:C1868508 . OMIM:169610 a owl:Class ; rdfs:label "pemphigus vulgaris, familial" ; @@ -57088,8 +58490,8 @@ OMIM:169610 a owl:Class ; PMID:6936869, PMID:7040962, PMID:89501 ; - oboInOwl:hasDbXref UMLS:C1868502 ; - oboInOwl:hasExactSynonym "pemphigus vulgaris, familial" . + oboInOwl:hasExactSynonym "pemphigus vulgaris, familial" ; + skos:exactMatch UMLS:C1868502 . OMIM:169615 a owl:Class ; rdfs:label "DSG3" ; @@ -57105,13 +58507,14 @@ OMIM:169615 a owl:Class ; PMID:9710446 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:619226 ; - oboInOwl:hasDbXref UMLS:C1414170 ; oboInOwl:hasExactSynonym "DSG3", "desmoglein 3", "pemphigus vulgaris antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1830 ; - skos:exactMatch HGNC_symbol:DSG3 ; + skos:exactMatch UMLS:C1414170, + HGNC:3050, + HGNC_symbol:DSG3 ; biolink:category biolink:Gene . OMIM:169700 a owl:Class ; @@ -57136,33 +58539,35 @@ OMIM:169700 a owl:Class ; PMID:752491, PMID:752498, PMID:752499 ; - oboInOwl:hasDbXref UMLS:C1868501 ; oboInOwl:hasExactSynonym "PG", "pepsinogen", "pepsinogen a", "pepsinogen, group 1", "uropepsinogen, group a" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1868501 ; biolink:category biolink:Gene . OMIM:169720 a owl:Class ; rdfs:label "PGA4" ; - oboInOwl:hasDbXref UMLS:C1418499 ; oboInOwl:hasExactSynonym "PGA4", "pepsinogen 4, group 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643847 ; - skos:exactMatch HGNC_symbol:PGA4 ; + skos:exactMatch UMLS:C1418499, + HGNC:8886, + HGNC_symbol:PGA4 ; biolink:category biolink:Gene . OMIM:169730 a owl:Class ; rdfs:label "PGA5" ; - oboInOwl:hasDbXref UMLS:C1418500 ; oboInOwl:hasExactSynonym "PGA5", "pepsinogen 5, group 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5222 ; - skos:exactMatch HGNC_symbol:PGA5 ; + skos:exactMatch UMLS:C1418500, + HGNC:8887, + HGNC_symbol:PGA5 ; biolink:category biolink:Gene . OMIM:169740 a owl:Class ; @@ -57173,14 +58578,15 @@ OMIM:169740 a owl:Class ; PMID:3335549, PMID:6794457, PMID:7275224 ; - oboInOwl:hasDbXref UMLS:C1418503 ; oboInOwl:hasExactSynonym "PGC", "pepsinogen c gastricsin", "pepsinogen, group 2", "progastricsin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5225 ; - skos:exactMatch HGNC_symbol:PGC ; + skos:exactMatch UMLS:C1418503, + HGNC:8890, + HGNC_symbol:PGC ; biolink:category biolink:Gene . OMIM:169800 a owl:Class ; @@ -57198,7 +58604,6 @@ OMIM:169800 a owl:Class ; PMID:6994582, PMID:700704, PMID:86494 ; - oboInOwl:hasDbXref UMLS:C1539110 ; oboInOwl:hasExactSynonym "CNDP2", "carnosinase 2", "carnosinase, tissue", @@ -57207,7 +58612,9 @@ OMIM:169800 a owl:Class ; "peptidase a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55748 ; - skos:exactMatch HGNC_symbol:CNDP2 ; + skos:exactMatch UMLS:C1539110, + HGNC:24437, + HGNC_symbol:CNDP2 ; biolink:category biolink:Gene . OMIM:169900 a owl:Class ; @@ -57218,12 +58625,13 @@ OMIM:169900 a owl:Class ; PMID:5428191, PMID:5504228, PMID:684558 ; - oboInOwl:hasDbXref UMLS:C1418460 ; oboInOwl:hasExactSynonym "PEPB", "peptidase B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5182 ; - skos:exactMatch HGNC_symbol:PEPB ; + skos:exactMatch UMLS:C1418460, + HGNC:8838, + HGNC_symbol:PEPB ; biolink:category biolink:Gene . OMIM:170000 a owl:Class ; @@ -57238,23 +58646,25 @@ OMIM:170000 a owl:Class ; PMID:5096543, PMID:5435643, PMID:752507 ; - oboInOwl:hasDbXref UMLS:C1418461 ; oboInOwl:hasExactSynonym "PEPC", "peptidase c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5183 ; - skos:exactMatch HGNC_symbol:PEPC ; + skos:exactMatch UMLS:C1418461, + HGNC:8839, + HGNC_symbol:PEPC ; biolink:category biolink:Gene . OMIM:170200 a owl:Class ; rdfs:label "PEPE" ; IAO:0000142 PMID:6201125 ; - oboInOwl:hasDbXref UMLS:C1418463 ; oboInOwl:hasExactSynonym "PEPE", "peptidase e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5185 ; - skos:exactMatch HGNC_symbol:PEPE ; + skos:exactMatch UMLS:C1418463, + HGNC:8841, + HGNC_symbol:PEPE ; biolink:category biolink:Gene . OMIM:170250 a owl:Class ; @@ -57264,13 +58674,14 @@ OMIM:170250 a owl:Class ; PMID:6058286, PMID:6350155, PMID:689684 ; - oboInOwl:hasDbXref UMLS:C1425522 ; oboInOwl:hasExactSynonym "LAP3", "leucine aminopeptidase 3", "peptidase s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51056 ; - skos:exactMatch HGNC_symbol:LAP3 ; + skos:exactMatch UMLS:C1425522, + HGNC:18449, + HGNC_symbol:LAP3 ; biolink:category biolink:Gene . OMIM:170260 a owl:Class ; @@ -57293,7 +58704,6 @@ OMIM:170260 a owl:Class ; PMID:9012413 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:604571 ; - oboInOwl:hasDbXref UMLS:C1336575 ; oboInOwl:hasExactSynonym "TAP1", "abc transporter, mhc, 1", "antigen peptide transporter 1", @@ -57307,7 +58717,9 @@ OMIM:170260 a owl:Class ; "transporter, atp-binding cassette, major histocompatibility complex, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6890 ; - skos:exactMatch HGNC_symbol:TAP1 ; + skos:exactMatch UMLS:C1336575, + HGNC:43, + HGNC_symbol:TAP1 ; biolink:category biolink:Gene . OMIM:170261 a owl:Class ; @@ -57322,7 +58734,6 @@ OMIM:170261 a owl:Class ; PMID:7762558 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:604571 ; - oboInOwl:hasDbXref UMLS:C1336576 ; oboInOwl:hasExactSynonym "TAP2", "abc transporter, mhc, 2", "antigen peptide transporter 2", @@ -57335,7 +58746,9 @@ OMIM:170261 a owl:Class ; "transporter, atp-binding cassette, major histocompatibility complex, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6891 ; - skos:exactMatch HGNC_symbol:TAP2 ; + skos:exactMatch UMLS:C1336576, + HGNC:44, + HGNC_symbol:TAP2 ; biolink:category biolink:Gene . OMIM:170270 a owl:Class ; @@ -57344,12 +58757,13 @@ OMIM:170270 a owl:Class ; PMID:2357221, PMID:7873888, PMID:8288234 ; - oboInOwl:hasDbXref UMLS:C1456357 ; oboInOwl:hasExactSynonym "PAM", "peptidylglycine alpha-amidating monooxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5066 ; - skos:exactMatch HGNC_symbol:PAM ; + skos:exactMatch UMLS:C1456357, + HGNC:8596, + HGNC_symbol:PAM ; biolink:category biolink:Gene . OMIM:170280 a owl:Class ; @@ -57392,14 +58806,15 @@ OMIM:170280 a owl:Class ; PMID:9971838 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:605027 ; - oboInOwl:hasDbXref UMLS:C1418887 ; oboInOwl:hasExactSynonym "PRF1", "perforin 1", "pfn1", "pore-forming protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5551 ; - skos:exactMatch HGNC_symbol:PRF1 ; + skos:exactMatch UMLS:C1418887, + HGNC:9360, + HGNC_symbol:PRF1 ; biolink:category biolink:Gene . OMIM:170285 a owl:Class ; @@ -57414,7 +58829,6 @@ OMIM:170285 a owl:Class ; PMID:8124707 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:618176 ; - oboInOwl:hasDbXref UMLS:C1826500 ; oboInOwl:hasExactSynonym "NUP85", "flj12549", "frount", @@ -57423,7 +58837,9 @@ OMIM:170285 a owl:Class ; "pericentrin, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79902 ; - skos:exactMatch HGNC_symbol:NUP85 ; + skos:exactMatch UMLS:C1826500, + HGNC:8734, + HGNC_symbol:NUP85 ; biolink:category biolink:Gene . OMIM:170290 a owl:Class ; @@ -57437,13 +58853,14 @@ OMIM:170290 a owl:Class ; PMID:9521880 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:613877 ; - oboInOwl:hasDbXref UMLS:C1418649 ; oboInOwl:hasExactSynonym "PLIN1", "perilipin 1", "plin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5346 ; - skos:exactMatch HGNC_symbol:PLIN1 ; + skos:exactMatch UMLS:C1418649, + HGNC:9076, + HGNC_symbol:PLIN1 ; biolink:category biolink:Gene . OMIM:170300 a owl:Class ; @@ -57472,13 +58889,13 @@ OMIM:170390 a owl:Class ; PMID:5007210, PMID:8080508, PMID:9307251 ; - oboInOwl:hasDbXref UMLS:C1563715 ; oboInOwl:hasExactSynonym "andersen cardiodysrhythmic periodic paralysis", "andersen syndrome", "andersen-tawil syndrome", "long qt syndrome 7", "periodic paralysis, potassium-sensitive cardiodysrhythmic iia" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C1563715 ; biolink:category biolink:Disease . OMIM:170500 a owl:Class ; @@ -57525,21 +58942,21 @@ OMIM:170500 a owl:Class ; PMID:7689382, PMID:8385748, PMID:9508059 ; - oboInOwl:hasDbXref UMLS:C0238357, - UMLS:C1868433 ; oboInOwl:hasExactSynonym "HYPP", "adynamia episodica hereditaria with or without myotonia", "gamstorp disease", "hyperkalemic periodic paralysis", "normokalemic periodic paralysis, potassium-sensitive" ; + skos:exactMatch UMLS:C0238357, + UMLS:C1868433 ; biolink:category biolink:Disease . OMIM:170600 a owl:Class ; rdfs:label "normokalemic periodic paralysis" ; IAO:0000142 PMID:13737364, PMID:235652 ; - oboInOwl:hasDbXref UMLS:C0268445 ; - oboInOwl:hasExactSynonym "normokalemic periodic paralysis" . + oboInOwl:hasExactSynonym "normokalemic periodic paralysis" ; + skos:exactMatch UMLS:C0268445 . OMIM:170700 a owl:Class ; rdfs:label "peripheral dysostosis" ; @@ -57549,8 +58966,8 @@ OMIM:170700 a owl:Class ; PMID:5769301, PMID:6018472, PMID:7205902 ; - oboInOwl:hasDbXref UMLS:C4721502 ; - oboInOwl:hasExactSynonym "peripheral dysostosis" . + oboInOwl:hasExactSynonym "peripheral dysostosis" ; + skos:exactMatch UMLS:C4721502 . OMIM:170710 a owl:Class ; rdfs:label "PRPH" ; @@ -57568,12 +58985,13 @@ OMIM:170710 a owl:Class ; PMID:7806235 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:105400 ; - oboInOwl:hasDbXref UMLS:C1418953 ; oboInOwl:hasExactSynonym "PRPH", "peripherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5630 ; - skos:exactMatch HGNC_symbol:PRPH ; + skos:exactMatch UMLS:C1418953, + HGNC:9461, + HGNC_symbol:PRPH ; biolink:category biolink:Gene . OMIM:170900 a owl:Class ; @@ -57583,8 +59001,8 @@ OMIM:170900 a owl:Class ; PMID:5635601, PMID:5648177, PMID:628388 ; - oboInOwl:hasDbXref UMLS:C0002892 ; - oboInOwl:hasExactSynonym "pernicious anemia" . + oboInOwl:hasExactSynonym "pernicious anemia" ; + skos:exactMatch UMLS:C0002892 . OMIM:170950 a owl:Class ; owl:deprecated true . @@ -57592,15 +59010,15 @@ OMIM:170950 a owl:Class ; OMIM:170980 a owl:Class ; rdfs:label "peroneal nerve, accessory deep" ; IAO:0000142 PMID:4772729 ; - oboInOwl:hasDbXref UMLS:C1868426 ; - oboInOwl:hasExactSynonym "peroneal nerve, accessory deep" . + oboInOwl:hasExactSynonym "peroneal nerve, accessory deep" ; + skos:exactMatch UMLS:C1868426 . OMIM:170990 a owl:Class ; rdfs:label "peroxidase, salivary" ; IAO:0000142 PMID:849256 ; - oboInOwl:hasDbXref UMLS:C1868425 ; oboInOwl:hasExactSynonym "SAPX", - "peroxidase, salivary" . + "peroxidase, salivary" ; + skos:exactMatch UMLS:C1868425 . OMIM:170993 a owl:Class ; rdfs:label "PEX2" ; @@ -57626,7 +59044,6 @@ OMIM:170993 a owl:Class ; PMID:8858157 ; RO:0002525 CHR:9606chr8q21.13 ; RO:0003303 OMIM:614867 ; - oboInOwl:hasDbXref UMLS:C1419149 ; oboInOwl:hasExactSynonym "PEX2", "peroxin 2", "peroxisomal assembly factor 1", @@ -57635,7 +59052,9 @@ OMIM:170993 a owl:Class ; "peroxisome biogenesis factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5828 ; - skos:exactMatch HGNC_symbol:PEX2 ; + skos:exactMatch UMLS:C1419149, + HGNC:9717, + HGNC_symbol:PEX2 ; biolink:category biolink:Gene . OMIM:170995 a owl:Class ; @@ -57648,14 +59067,15 @@ OMIM:170995 a owl:Class ; PMID:9199576 ; RO:0002525 CHR:9606chr1p21.3 ; RO:0003303 OMIM:616278 ; - oboInOwl:hasDbXref UMLS:C1412090 ; oboInOwl:hasExactSynonym "ABCD3", "atp-binding cassette, subfamily d, member 3", "peroxisomal membrane protein 1", "peroxisomal membrane protein, 70-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5825 ; - skos:exactMatch HGNC_symbol:ABCD3 ; + skos:exactMatch UMLS:C1412090, + HGNC:67, + HGNC_symbol:ABCD3 ; biolink:category biolink:Gene . OMIM:170998 a owl:Class ; @@ -57686,15 +59106,16 @@ OMIM:170998 a owl:Class ; PMID:9739042, PMID:9792666 ; RO:0002525 CHR:9606chr22q13.31 ; - oboInOwl:hasDbXref UMLS:C1418776, - UMLS:C1868414 ; oboInOwl:hasExactSynonym "PPARA", "hyperapobetalipoproteinemia, susceptibility to", "peroxisome proliferator-activated receptor", "peroxisome proliferator-activated receptor-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5465 ; - skos:exactMatch HGNC_symbol:PPARA ; + skos:exactMatch UMLS:C1418776, + UMLS:C1868414, + HGNC:9232, + HGNC_symbol:PPARA ; biolink:category biolink:Gene . OMIM:171000 a owl:Class ; @@ -57706,8 +59127,8 @@ OMIM:171000 a owl:Class ; PMID:3560320, PMID:6213155, PMID:9636000 ; - oboInOwl:hasDbXref UMLS:C0030848 ; oboInOwl:hasExactSynonym "peyronie disease" ; + skos:exactMatch UMLS:C0030848 ; biolink:category biolink:Disease . OMIM:171050 a owl:Class ; @@ -57776,10 +59197,6 @@ OMIM:171050 a owl:Class ; PMID:9820555 ; RO:0002525 CHR:9606chr7q21.12 ; RO:0003303 OMIM:612244 ; - oboInOwl:hasDbXref UMLS:C0376622, - UMLS:C1861502, - UMLS:C4016315, - UMLS:C4016316 ; oboInOwl:hasExactSynonym "ABCB1", "atp-binding cassette, subfamily b, member 1", "doxorubicin resistance", @@ -57788,7 +59205,12 @@ OMIM:171050 a owl:Class ; "p-glycoprotein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5243 ; - skos:exactMatch HGNC_symbol:ABCB1 ; + skos:exactMatch UMLS:C0376622, + UMLS:C1861502, + UMLS:C4016315, + UMLS:C4016316, + HGNC:40, + HGNC_symbol:ABCB1 ; biolink:category biolink:Gene . OMIM:171060 a owl:Class ; @@ -57815,23 +59237,24 @@ OMIM:171060 a owl:Class ; PMID:9923886 ; RO:0002525 CHR:9606chr7q21.12 ; RO:0003303 OMIM:600803 ; - oboInOwl:hasDbXref UMLS:C1412071, - UMLS:C1865643, - UMLS:C2609268, - UMLS:C3550019 ; oboInOwl:hasExactSynonym "ABCB4", "atp-binding cassette, subfamily b, member 4", "multidrug resistance 3", "p-glycoprotein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5244 ; - skos:exactMatch HGNC_symbol:ABCB4 ; + skos:exactMatch UMLS:C1412071, + UMLS:C1865643, + UMLS:C2609268, + UMLS:C3550019, + HGNC:45, + HGNC_symbol:ABCB4 ; biolink:category biolink:Gene . OMIM:171100 a owl:Class ; rdfs:label "phagocytosis, plasma-related defect 1n" ; - oboInOwl:hasDbXref UMLS:C1868402 ; - oboInOwl:hasExactSynonym "phagocytosis, plasma-related defect 1n" . + oboInOwl:hasExactSynonym "phagocytosis, plasma-related defect 1n" ; + skos:exactMatch UMLS:C1868402 . OMIM:171150 a owl:Class ; rdfs:label "SULT1A1" ; @@ -57853,7 +59276,6 @@ OMIM:171150 a owl:Class ; PMID:9014197, PMID:9345314, PMID:9854023 ; - oboInOwl:hasDbXref UMLS:C1420514 ; oboInOwl:hasExactSynonym "SULT1A1", "phenol sulfotransferase", "phenol sulfotransferase, thermostable form", @@ -57862,7 +59284,9 @@ OMIM:171150 a owl:Class ; "sulfotransferase, phenol-preferring 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6817 ; - skos:exactMatch HGNC_symbol:SULT1A1 ; + skos:exactMatch UMLS:C1420514, + HGNC:11453, + HGNC_symbol:SULT1A1 ; biolink:category biolink:Gene . OMIM:171190 a owl:Class ; @@ -57871,13 +59295,14 @@ OMIM:171190 a owl:Class ; PMID:2563586, PMID:2835776, PMID:3372503 ; - oboInOwl:hasDbXref UMLS:C1418713 ; oboInOwl:hasExactSynonym "PNMT", "pent", "phenylethanolamine n-methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5409 ; - skos:exactMatch HGNC_symbol:PNMT ; + skos:exactMatch UMLS:C1418713, + HGNC:9160, + HGNC_symbol:PNMT ; biolink:category biolink:Gene . OMIM:171350 a owl:Class ; @@ -57976,8 +59401,6 @@ OMIM:171400 a owl:Class ; PMID:8981969, PMID:9048921, PMID:990440 ; - oboInOwl:hasDbXref UMLS:C0025268, - UMLS:C1833921 ; oboInOwl:hasExactSynonym "MEN2A", "multiple endocrine neoplasia, iia 2a", "pheochromocytoma and amyloid-producing medullary thyroid carcinoma", @@ -57985,6 +59408,8 @@ OMIM:171400 a owl:Class ; "sipple syndrome", "thyroid carcinoma, familial medullary" ; rdfs:subClassOf OMIMPS:131100 ; + skos:exactMatch UMLS:C0025268, + UMLS:C1833921 ; biolink:category biolink:Disease . OMIM:171420 a owl:Class ; @@ -57992,21 +59417,21 @@ OMIM:171420 a owl:Class ; IAO:0000142 PMID:227568, PMID:6102842, PMID:6123304 ; - oboInOwl:hasDbXref UMLS:C1868392 ; - oboInOwl:hasExactSynonym "pheochromocytoma--islet cell tumor syndrome" . + oboInOwl:hasExactSynonym "pheochromocytoma--islet cell tumor syndrome" ; + skos:exactMatch UMLS:C1868392 . OMIM:171450 a owl:Class ; rdfs:label "phlebectasia of lips" ; - oboInOwl:hasDbXref UMLS:C1868391 ; - oboInOwl:hasExactSynonym "phlebectasia of lips" . + oboInOwl:hasExactSynonym "phlebectasia of lips" ; + skos:exactMatch UMLS:C1868391 . OMIM:171480 a owl:Class ; rdfs:label "phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia" ; IAO:0000142 PMID:4447434, PMID:7077621 ; - oboInOwl:hasDbXref UMLS:C1868390 ; oboInOwl:hasExactSynonym "facioauriculoradial dysplasia", - "phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia" . + "phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia" ; + skos:exactMatch UMLS:C1868390 . OMIM:171490 a owl:Class ; rdfs:label "PDC" ; @@ -58016,12 +59441,13 @@ OMIM:171490 a owl:Class ; PMID:8188267, PMID:8288249, PMID:8288259 ; - oboInOwl:hasDbXref UMLS:C1335199 ; oboInOwl:hasExactSynonym "PDC", "phosducin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5132 ; - skos:exactMatch HGNC_symbol:PDC ; + skos:exactMatch UMLS:C1335199, + HGNC:8759, + HGNC_symbol:PDC ; biolink:category biolink:Gene . OMIM:171500 a owl:Class ; @@ -58066,14 +59492,15 @@ OMIM:171500 a owl:Class ; PMID:7446528, PMID:8586411, PMID:955632 ; - oboInOwl:hasDbXref UMLS:C1412131, - UMLS:C4016317 ; oboInOwl:hasExactSynonym "ACP1", "acid phosphatase 1, soluble", "phosphatase, acid, of erythrocyte" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:52 ; - skos:exactMatch HGNC_symbol:ACP1 ; + skos:exactMatch UMLS:C1412131, + UMLS:C4016317, + HGNC:122, + HGNC_symbol:ACP1 ; biolink:category biolink:Gene . OMIM:171640 a owl:Class ; @@ -58098,13 +59525,14 @@ OMIM:171640 a owl:Class ; PMID:8898228 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:607944 ; - oboInOwl:hasDbXref UMLS:C1412133 ; oboInOwl:hasExactSynonym "ACP5", "phosphatase, acid, iia 5, tartrate-resistant", "tartrate-resistant acid phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54 ; - skos:exactMatch HGNC_symbol:ACP5 ; + skos:exactMatch UMLS:C1412133, + HGNC:124, + HGNC_symbol:ACP5 ; biolink:category biolink:Gene . OMIM:171650 a owl:Class ; @@ -58119,7 +59547,6 @@ OMIM:171650 a owl:Class ; PMID:975882 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:200950 ; - oboInOwl:hasDbXref UMLS:C1412132 ; oboInOwl:hasExactSynonym "ACP2", "acid phosphatase 2, lysosomal", "acp2--beta polypeptide", @@ -58127,17 +59554,19 @@ OMIM:171650 a owl:Class ; "phosphatase, acid, of tissues" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53 ; - skos:exactMatch HGNC_symbol:ACP2 ; + skos:exactMatch UMLS:C1412132, + HGNC:123, + HGNC_symbol:ACP2 ; biolink:category biolink:Gene . OMIM:171660 a owl:Class ; rdfs:label "phosphatase, acid, of tissues" ; IAO:0000142 PMID:4656570, PMID:5444878 ; - oboInOwl:hasDbXref UMLS:C1876163 ; oboInOwl:hasExactSynonym "acp3--alpha polypeptide", "lysosomal acid phosphatase", - "phosphatase, acid, of tissues" . + "phosphatase, acid, of tissues" ; + skos:exactMatch UMLS:C1876163 . OMIM:171700 a owl:Class ; owl:deprecated true . @@ -58156,13 +59585,14 @@ OMIM:171740 a owl:Class ; PMID:7437449, PMID:8103404, PMID:8449034 ; - oboInOwl:hasDbXref UMLS:C1412363 ; oboInOwl:hasExactSynonym "ALPI", "alkaline phosphatase, intestinal", "iap" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:248 ; - skos:exactMatch HGNC_symbol:ALPI ; + skos:exactMatch UMLS:C1412363, + HGNC:437, + HGNC_symbol:ALPI ; biolink:category biolink:Gene . OMIM:171750 a owl:Class ; @@ -58171,10 +59601,10 @@ OMIM:171750 a owl:Class ; PMID:3970701, PMID:6437214, PMID:6592604 ; - oboInOwl:hasDbXref UMLS:C1868386 ; oboInOwl:hasExactSynonym "alkaline phosphatase, intestinal, fetal form", "alpif" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1868386 ; biolink:category biolink:Gene . OMIM:171760 a owl:Class ; @@ -58213,14 +59643,15 @@ OMIM:171760 a owl:Class ; PMID:9844100 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:146300 ; - oboInOwl:hasDbXref UMLS:C1412364 ; oboInOwl:hasExactSynonym "ALPL", "alkaline phosphatase, liver", "alkaline phosphatase, liver/bone/kidney iia", "alkaline phosphatase, tissue-nonspecific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:249 ; - skos:exactMatch HGNC_symbol:ALPL ; + skos:exactMatch UMLS:C1412364, + HGNC:438, + HGNC_symbol:ALPL ; biolink:category biolink:Gene . OMIM:171790 a owl:Class ; @@ -58234,13 +59665,14 @@ OMIM:171790 a owl:Class ; PMID:2965059, PMID:7951074, PMID:8244395 ; - oboInOwl:hasDbXref UMLS:C1367456 ; oboInOwl:hasExactSynonym "ACPP", "phosphatase, prostate-specific acid", "prostatic acid phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55 ; - skos:exactMatch HGNC_symbol:ACP3 ; + skos:exactMatch UMLS:C1367456, + HGNC:125, + HGNC_symbol:ACP3 ; biolink:category biolink:Gene . OMIM:171800 a owl:Class ; @@ -58269,7 +59701,6 @@ OMIM:171800 a owl:Class ; PMID:6946455, PMID:7072721, PMID:7076255 ; - oboInOwl:hasDbXref UMLS:C1412365 ; oboInOwl:hasExactSynonym "ALPP", "alkaline phosphatase, placental", "alkaline phosphatase, secreted", @@ -58278,7 +59709,9 @@ OMIM:171800 a owl:Class ; "secreted alkaline phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:250 ; - skos:exactMatch HGNC_symbol:ALPP ; + skos:exactMatch UMLS:C1412365, + HGNC:439, + HGNC_symbol:ALPP ; biolink:category biolink:Gene . OMIM:171810 a owl:Class ; @@ -58289,7 +59722,6 @@ OMIM:171810 a owl:Class ; PMID:3042787, PMID:3674755, PMID:7166303 ; - oboInOwl:hasDbXref UMLS:C1412366 ; oboInOwl:hasExactSynonym "ALPPL2", "alkaline phosphatase, germ cell", "alkaline phosphatase, placental-like 2", @@ -58297,7 +59729,9 @@ OMIM:171810 a owl:Class ; "nagao isoenzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:251 ; - skos:exactMatch HGNC_symbol:ALPG ; + skos:exactMatch UMLS:C1412366, + HGNC:441, + HGNC_symbol:ALPG ; biolink:category biolink:Gene . OMIM:171820 a owl:Class ; @@ -58305,18 +59739,18 @@ OMIM:171820 a owl:Class ; IAO:0000142 PMID:4029953, PMID:761925, PMID:950242 ; - oboInOwl:hasDbXref UMLS:C1868365 ; oboInOwl:hasExactSynonym "ACPS", "phosphatase, salivary acid, a", "sacp" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1868365 ; biolink:category biolink:Gene . OMIM:171830 a owl:Class ; rdfs:label "None" ; - oboInOwl:hasDbXref UMLS:C1868364 ; oboInOwl:hasExactSynonym "phosphatase, salivary acid, B" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1868364 ; biolink:category biolink:Gene . OMIM:171833 a owl:Class ; @@ -58360,7 +59794,6 @@ OMIM:171833 a owl:Class ; PMID:9988280 ; RO:0002525 CHR:9606chr5q13.1 ; RO:0003303 OMIM:269880 ; - oboInOwl:hasDbXref UMLS:C1418576 ; oboInOwl:hasExactSynonym "PIK3R1", "p85-alpha", "phosphatidylinositol 3-kinase, regulatory subunit 1", @@ -58368,7 +59801,9 @@ OMIM:171833 a owl:Class ; "phosphatidylinositol 3-kinase-associated p85-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5295 ; - skos:exactMatch HGNC_symbol:PIK3R1 ; + skos:exactMatch UMLS:C1418576, + HGNC:8979, + HGNC_symbol:PIK3R1 ; biolink:category biolink:Gene . OMIM:171834 a owl:Class ; @@ -58424,7 +59859,15 @@ OMIM:171834 a owl:Class ; PMID:9916799 ; RO:0002525 CHR:9606chr3q26.32 ; RO:0003303 OMIM:167000 ; - oboInOwl:hasDbXref UMLS:C1335212, + oboInOwl:hasExactSynonym "PIK3CA", + "p110-alpha", + "phosphatidylinositol 3-kinase, catalytic, 110-kd, alpha", + "phosphatidylinositol 3-kinase, catalytic, alpha", + "pi3k-alpha", + "pik3-alpha" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:5290 ; + skos:exactMatch UMLS:C1335212, UMLS:C1833970, UMLS:C1860985, UMLS:C1868358, @@ -58437,16 +59880,9 @@ OMIM:171834 a owl:Class ; UMLS:C3554518, UMLS:C4016282, UMLS:C4749056, - UMLS:C4749057 ; - oboInOwl:hasExactSynonym "PIK3CA", - "p110-alpha", - "phosphatidylinositol 3-kinase, catalytic, 110-kd, alpha", - "phosphatidylinositol 3-kinase, catalytic, alpha", - "pi3k-alpha", - "pik3-alpha" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:5290 ; - skos:exactMatch HGNC_symbol:PIK3CA ; + UMLS:C4749057, + HGNC:8975, + HGNC_symbol:PIK3CA ; biolink:category biolink:Gene . OMIM:171835 a owl:Class ; @@ -58454,13 +59890,14 @@ OMIM:171835 a owl:Class ; IAO:0000142 PMID:1655632, PMID:9089100, PMID:9652401 ; - oboInOwl:hasDbXref UMLS:C1418488 ; oboInOwl:hasExactSynonym "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2", "PFKFB2", "pfkfb, cardiac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5208 ; - skos:exactMatch HGNC_symbol:PFKFB2 ; + skos:exactMatch UMLS:C1418488, + HGNC:8873, + HGNC_symbol:PFKFB2 ; biolink:category biolink:Gene . OMIM:171840 a owl:Class ; @@ -58475,14 +59912,15 @@ OMIM:171840 a owl:Class ; PMID:6451249, PMID:6459753, PMID:6829605 ; - oboInOwl:hasDbXref UMLS:C1418493 ; oboInOwl:hasExactSynonym "PFKP", "pfk, fibroblast iia", "pfk, platelet iia", "phosphofructokinase, platelet iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5214 ; - skos:exactMatch HGNC_symbol:PFKP ; + skos:exactMatch UMLS:C1418493, + HGNC:8878, + HGNC_symbol:PFKP ; biolink:category biolink:Gene . OMIM:171850 a owl:Class ; @@ -58500,14 +59938,15 @@ OMIM:171885 a owl:Class ; PMID:8009369, PMID:8389765, PMID:9521885 ; - oboInOwl:hasDbXref UMLS:C1418431 ; oboInOwl:hasExactSynonym "PDE7A", "pde1/pde2, yeast, human complement of", "phosphodiesterase 7a", "phosphodiesterase 7a, camp-specific, high affinity" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5150 ; - skos:exactMatch HGNC_symbol:PDE7A ; + skos:exactMatch UMLS:C1418431, + HGNC:8791, + HGNC_symbol:PDE7A ; biolink:category biolink:Gene . OMIM:171890 a owl:Class ; @@ -58517,13 +59956,14 @@ OMIM:171890 a owl:Class ; PMID:12135876, PMID:16514069, PMID:8557689 ; - oboInOwl:hasDbXref UMLS:C1418414 ; oboInOwl:hasExactSynonym "PDE1A", "hcam1", "phosphodiesterase 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5136 ; - skos:exactMatch HGNC_symbol:PDE1A ; + skos:exactMatch UMLS:C1418414, + HGNC:8774, + HGNC_symbol:PDE1A ; biolink:category biolink:Gene . OMIM:171891 a owl:Class ; @@ -58533,13 +59973,14 @@ OMIM:171891 a owl:Class ; PMID:8855339, PMID:9419816, PMID:9657856 ; - oboInOwl:hasDbXref UMLS:C1418415 ; oboInOwl:hasExactSynonym "PDE1B", "pde1b1", "phosphodiesterase 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5153 ; - skos:exactMatch HGNC_symbol:PDE1B ; + skos:exactMatch UMLS:C1418415, + HGNC:8775, + HGNC_symbol:PDE1B ; biolink:category biolink:Gene . OMIM:171900 a owl:Class ; @@ -58585,12 +60026,13 @@ OMIM:171900 a owl:Class ; PMID:8257433 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:614921 ; - oboInOwl:hasDbXref UMLS:C1418516 ; oboInOwl:hasExactSynonym "PGM1", "phosphoglucomutase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5236 ; - skos:exactMatch HGNC_symbol:PGM1 ; + skos:exactMatch UMLS:C1418516, + HGNC:8905, + HGNC_symbol:PGM1 ; biolink:category biolink:Gene . OMIM:172000 a owl:Class ; @@ -58602,28 +60044,29 @@ OMIM:172000 a owl:Class ; PMID:752511, PMID:752512, PMID:885546 ; - oboInOwl:hasDbXref UMLS:C1418517 ; oboInOwl:hasExactSynonym "PGM2", "phosphoglucomutase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55276 ; - skos:exactMatch HGNC_symbol:PGM2 ; + skos:exactMatch UMLS:C1418517, + HGNC:8906, + HGNC_symbol:PGM2 ; biolink:category biolink:Gene . OMIM:172110 a owl:Class ; rdfs:label "phosphoglucomutase 4" ; - oboInOwl:hasDbXref UMLS:C1868356 ; oboInOwl:hasExactSynonym "milk pgm", "pgm4", - "phosphoglucomutase 4" . + "phosphoglucomutase 4" ; + skos:exactMatch UMLS:C1868356 . OMIM:172150 a owl:Class ; rdfs:label "6-phosphogluconolactonase deficiency" ; IAO:0000142 PMID:3858849 ; - oboInOwl:hasDbXref UMLS:C1868355 ; oboInOwl:hasExactSynonym "6-phosphogluconolactonase deficiency", "6pgl deficiency", "pgls deficiency" ; + skos:exactMatch UMLS:C1868355 ; biolink:category biolink:Disease . OMIM:172200 a owl:Class ; @@ -58649,13 +60092,14 @@ OMIM:172200 a owl:Class ; PMID:5958448, PMID:5960509, PMID:7166309 ; - oboInOwl:hasDbXref UMLS:C1418504 ; oboInOwl:hasExactSynonym "6-phosphogluconate dehydrogenase", "6-phosphogluconate dehydrogenase, erythrocyte", "PGD" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5226 ; - skos:exactMatch HGNC_symbol:PGD ; + skos:exactMatch UMLS:C1418504, + HGNC:8891, + HGNC_symbol:PGD ; biolink:category biolink:Gene . OMIM:172270 a owl:Class ; @@ -58672,14 +60116,15 @@ OMIM:172270 a owl:Class ; PMID:6328504, PMID:6572369, PMID:6684996 ; - oboInOwl:hasDbXref UMLS:C1418510 ; oboInOwl:hasExactSynonym "PGK2", "pgk, testicular", "phosphoglycerate kinase 2", "phosphoglycerate kinase of spermatozoa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5232 ; - skos:exactMatch HGNC_symbol:PGK2 ; + skos:exactMatch UMLS:C1418510, + HGNC:8898, + HGNC_symbol:PGK2 ; biolink:category biolink:Gene . OMIM:172280 a owl:Class ; @@ -58700,20 +60145,21 @@ OMIM:172280 a owl:Class ; PMID:6277765, PMID:6929271, PMID:8313623 ; - oboInOwl:hasDbXref UMLS:C1418520 ; oboInOwl:hasExactSynonym "PGP", "phosphoglycolate phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283871 ; - skos:exactMatch HGNC_symbol:PGP ; + skos:exactMatch UMLS:C1418520, + HGNC:8909, + HGNC_symbol:PGP ; biolink:category biolink:Gene . OMIM:172290 a owl:Class ; rdfs:label "phosphoglycoprotein 1" ; IAO:0000142 PMID:3519447 ; - oboInOwl:hasDbXref UMLS:C1868352 ; oboInOwl:hasExactSynonym "PGP1", - "phosphoglycoprotein 1" . + "phosphoglycoprotein 1" ; + skos:exactMatch UMLS:C1868352 . OMIM:172300 a owl:Class ; IAO:0100001 OMIM:171860 ; @@ -58751,7 +60197,6 @@ OMIM:172400 a owl:Class ; PMID:9856489 ; RO:0002525 CHR:9606chr19q13.11 ; RO:0003303 OMIM:613470 ; - oboInOwl:hasDbXref UMLS:C1333690 ; oboInOwl:hasExactSynonym "GPI", "autocrine motility factor", "glucose phosphate isomerase", @@ -58761,7 +60206,9 @@ OMIM:172400 a owl:Class ; "phosphohexose isomerase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2821 ; - skos:exactMatch HGNC_symbol:GPI ; + skos:exactMatch UMLS:C1333690, + HGNC:4458, + HGNC_symbol:GPI ; biolink:category biolink:Gene . OMIM:172405 a owl:Class ; @@ -58787,12 +60234,13 @@ OMIM:172405 a owl:Class ; PMID:8406504 ; RO:0002525 CHR:9606chr6q22.31 ; RO:0003303 OMIM:613874 ; - oboInOwl:hasDbXref UMLS:C1418650 ; oboInOwl:hasExactSynonym "PLN", "phospholamban" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5350 ; - skos:exactMatch HGNC_symbol:PLN ; + skos:exactMatch UMLS:C1418650, + HGNC:9080, + HGNC_symbol:PLN ; biolink:category biolink:Gene . OMIM:172410 a owl:Class ; @@ -58802,7 +60250,6 @@ OMIM:172410 a owl:Class ; PMID:3028739, PMID:8358438, PMID:8835321 ; - oboInOwl:hasDbXref UMLS:C1418617 ; oboInOwl:hasExactSynonym "PLA2G1B", "phospholipase a2 polypeptide a", "phospholipase a2, group 1b", @@ -58810,7 +60257,9 @@ OMIM:172410 a owl:Class ; "pla2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5319 ; - skos:exactMatch HGNC_symbol:PLA2G1B ; + skos:exactMatch UMLS:C1418617, + HGNC:9030, + HGNC_symbol:PLA2G1B ; biolink:category biolink:Gene . OMIM:172420 a owl:Class ; @@ -58824,14 +60273,15 @@ OMIM:172420 a owl:Class ; PMID:1639386, PMID:2831461, PMID:3254788 ; - oboInOwl:hasDbXref UMLS:C1418640 ; oboInOwl:hasExactSynonym "PLCG1", "phospholipase c, gamma-1", "phospholipase c-148", "plc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5335 ; - skos:exactMatch HGNC_symbol:PLCG1 ; + skos:exactMatch UMLS:C1418640, + HGNC:9065, + HGNC_symbol:PLCG1 ; biolink:category biolink:Gene . OMIM:172425 a owl:Class ; @@ -58844,15 +60294,16 @@ OMIM:172425 a owl:Class ; PMID:8554588, PMID:8661063 ; RO:0002525 CHR:9606chr20q13.12 ; - oboInOwl:hasDbXref UMLS:C1455838, - UMLS:C1969386 ; oboInOwl:hasExactSynonym "PLTP", "high density lipoprotein cholesterol level quantitative trait locus 9", "lipid transfer protein 2", "phospholipid transfer protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5360 ; - skos:exactMatch HGNC_symbol:PLTP ; + skos:exactMatch UMLS:C1455838, + UMLS:C1969386, + HGNC:9093, + HGNC_symbol:PLTP ; biolink:category biolink:Gene . OMIM:172430 a owl:Class ; @@ -58871,7 +60322,6 @@ OMIM:172430 a owl:Class ; PMID:884968, PMID:891258, PMID:8941374 ; - oboInOwl:hasDbXref UMLS:C1414402 ; oboInOwl:hasExactSynonym "ENO1", "crystallin, tau", "enolase 1", @@ -58880,7 +60330,9 @@ OMIM:172430 a owl:Class ; "phosphopyruvate hydratase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2023 ; - skos:exactMatch HGNC_symbol:ENO1 ; + skos:exactMatch UMLS:C1414402, + HGNC:3350, + HGNC_symbol:ENO1 ; biolink:category biolink:Gene . OMIM:172439 a owl:Class ; @@ -58888,14 +60340,15 @@ OMIM:172439 a owl:Class ; IAO:0000142 PMID:2004782, PMID:2183217, PMID:8106516 ; - oboInOwl:hasDbXref UMLS:C1418256 ; oboInOwl:hasExactSynonym "PAICS", "air carboxylase", "phosphoribosylaminoimidazole carboxylase", "saicar synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10606 ; - skos:exactMatch HGNC_symbol:PAICS ; + skos:exactMatch UMLS:C1418256, + HGNC:8587, + HGNC_symbol:PAICS ; biolink:category biolink:Gene . OMIM:172450 a owl:Class ; @@ -58904,13 +60357,14 @@ OMIM:172450 a owl:Class ; PMID:752480, PMID:8106516, PMID:8336716 ; - oboInOwl:hasDbXref UMLS:C1418780 ; oboInOwl:hasExactSynonym "PPAT", "glutamine phosphoribosylpyrophosphate amidotransferase", "phosphoribosylpyrophosphate amidotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5471 ; - skos:exactMatch HGNC_symbol:PPAT ; + skos:exactMatch UMLS:C1418780, + HGNC:9238, + HGNC_symbol:PPAT ; biolink:category biolink:Gene . OMIM:172470 a owl:Class ; @@ -58920,12 +60374,13 @@ OMIM:172470 a owl:Class ; PMID:3472241, PMID:8111123, PMID:8530014 ; - oboInOwl:hasDbXref UMLS:C1418537 ; oboInOwl:hasExactSynonym "PHKG1", "phosphorylase kinase, muscle, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5260 ; - skos:exactMatch HGNC_symbol:PHKG1 ; + skos:exactMatch UMLS:C1418537, + HGNC:8930, + HGNC_symbol:PHKG1 ; biolink:category biolink:Gene . OMIM:172480 a owl:Class ; @@ -58943,13 +60398,14 @@ OMIM:172480 a owl:Class ; PMID:9222972 ; RO:0002525 CHR:9606chr7p11.2 ; RO:0003303 OMIM:614023 ; - oboInOwl:hasDbXref UMLS:C1419048 ; oboInOwl:hasExactSynonym "PSPH", "phosphoserine phosphatase", "psp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5723 ; - skos:exactMatch HGNC_symbol:PSPH ; + skos:exactMatch UMLS:C1419048, + HGNC:9577, + HGNC_symbol:PSPH ; biolink:category biolink:Gene . OMIM:172490 a owl:Class ; @@ -58966,28 +60422,29 @@ OMIM:172490 a owl:Class ; PMID:9402963 ; RO:0002525 CHR:9606chr16q12.1 ; RO:0003303 OMIM:261750 ; - oboInOwl:hasDbXref UMLS:C1418534 ; oboInOwl:hasExactSynonym "PHKB", "phosphorylase kinase, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5257 ; - skos:exactMatch HGNC_symbol:PHKB ; + skos:exactMatch UMLS:C1418534, + HGNC:8927, + HGNC_symbol:PHKB ; biolink:category biolink:Gene . OMIM:172500 a owl:Class ; rdfs:label "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" ; IAO:0000142 PMID:14129050 ; - oboInOwl:hasDbXref UMLS:C1809475 ; oboInOwl:hasExactSynonym "herrmann syndrome", - "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" . + "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" ; + skos:exactMatch UMLS:C1809475 . OMIM:172850 a owl:Class ; rdfs:label "piebald trait with neurologic defects" ; IAO:0000142 PMID:1376329, PMID:2014804, PMID:5097904 ; - oboInOwl:hasDbXref UMLS:C1868311 ; - oboInOwl:hasExactSynonym "piebald trait with neurologic defects" . + oboInOwl:hasExactSynonym "piebald trait with neurologic defects" ; + skos:exactMatch UMLS:C1868311 . OMIM:172860 a owl:Class ; rdfs:label "SERPINF1" ; @@ -59004,13 +60461,14 @@ OMIM:172860 a owl:Class ; PMID:8434014 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:613982 ; - oboInOwl:hasDbXref UMLS:C1418450 ; oboInOwl:hasExactSynonym "SERPINF1", "pigment epithelium-derived factor", "serpin peptidase inhibitor, clade f, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5176 ; - skos:exactMatch HGNC_symbol:SERPINF1 ; + skos:exactMatch UMLS:C1418450, + HGNC:8824, + HGNC_symbol:SERPINF1 ; biolink:category biolink:Gene . OMIM:172870 a owl:Class ; @@ -59021,9 +60479,9 @@ OMIM:172870 a owl:Class ; PMID:3778279, PMID:434087, PMID:6614113 ; - oboInOwl:hasDbXref UMLS:C1868310 ; oboInOwl:hasExactSynonym "PPCRA", "pigmented paravenous chorioretinal atrophy" ; + skos:exactMatch UMLS:C1868310 ; biolink:category biolink:Disease . OMIM:172880 a owl:Class ; @@ -59031,25 +60489,25 @@ OMIM:172880 a owl:Class ; IAO:0000142 PMID:3425604, PMID:3777025, PMID:501501 ; - oboInOwl:hasDbXref UMLS:C1868309 ; oboInOwl:hasExactSynonym "pierre robin syndrome and oligodactyly", - "robin sequence and oligodactyly" . + "robin sequence and oligodactyly" ; + skos:exactMatch UMLS:C1868309 . OMIM:172900 a owl:Class ; rdfs:label "pigmented purpuric eruption" ; IAO:0000142 PMID:14184484, PMID:5922273, PMID:9390356 ; - oboInOwl:hasDbXref UMLS:C0406515 ; oboInOwl:hasExactSynonym "pigmented purpuric eruption" ; + skos:exactMatch UMLS:C0406515 ; biolink:category biolink:Disease . OMIM:173000 a owl:Class ; rdfs:label "pilonidal sinus" ; IAO:0000142 PMID:17864995, PMID:5820262 ; - oboInOwl:hasDbXref UMLS:C0031925 ; - oboInOwl:hasExactSynonym "pilonidal sinus" . + oboInOwl:hasExactSynonym "pilonidal sinus" ; + skos:exactMatch UMLS:C0031925 . OMIM:173100 a owl:Class ; rdfs:label "isolated growth hormone deficiency, iia 2" ; @@ -59071,13 +60529,13 @@ OMIM:173100 a owl:Class ; PMID:8288694, PMID:848998, PMID:9805128 ; - oboInOwl:hasDbXref UMLS:C0271567 ; oboInOwl:hasExactSynonym "IGHD2", "growth hormone deficiency, isolated, autosomal dominant", "ighd 2", "isolated growth hormone deficiency, iia 2", "pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant" ; rdfs:subClassOf OMIMPS:262400 ; + skos:exactMatch UMLS:C0271567 ; biolink:category biolink:Disease . OMIM:173110 a owl:Class ; @@ -59121,15 +60579,16 @@ OMIM:173110 a owl:Class ; PMID:9639565 ; RO:0002525 CHR:9606chr3p11.2 ; RO:0003303 OMIM:613038 ; - oboInOwl:hasDbXref UMLS:C1418759, - UMLS:C2751608 ; oboInOwl:hasExactSynonym "POU1F1", "growth hormone factor 1", "pituitary-specific transcription factor 1", "pou domain, class 1, transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5449 ; - skos:exactMatch HGNC_symbol:POU1F1 ; + skos:exactMatch UMLS:C1418759, + UMLS:C2751608, + HGNC:9210, + HGNC_symbol:POU1F1 ; biolink:category biolink:Gene . OMIM:173120 a owl:Class ; @@ -59140,14 +60599,15 @@ OMIM:173120 a owl:Class ; PMID:2776483, PMID:3134253, PMID:9467579 ; - oboInOwl:hasDbXref UMLS:C1822653 ; oboInOwl:hasExactSynonym "SGNE1", "pituitary polypeptide 7b2", "secretogranin 5", "secretory granule neuroendocrine protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6447 ; - skos:exactMatch HGNC_symbol:SCG5 ; + skos:exactMatch UMLS:C1822653, + HGNC:10816, + HGNC_symbol:SCG5 ; biolink:category biolink:Gene . OMIM:173200 a owl:Class ; @@ -59161,9 +60621,9 @@ OMIM:173200 a owl:Class ; PMID:5371703, PMID:6736336, PMID:7726588 ; - oboInOwl:hasDbXref UMLS:C0032027 ; oboInOwl:hasExactSynonym "PRP", "pityriasis rubra pilaris" ; + skos:exactMatch UMLS:C0032027 ; biolink:category biolink:Disease . OMIM:173320 a owl:Class ; @@ -59176,7 +60636,6 @@ OMIM:173320 a owl:Class ; PMID:2276743, PMID:23624614, PMID:3219362 ; - oboInOwl:hasDbXref UMLS:C1826843 ; oboInOwl:hasExactSynonym "RNH1", "cytosolic ribonuclease inhibitor", "placental ribonuclease inhibitor", @@ -59185,7 +60644,9 @@ OMIM:173320 a owl:Class ; "rnh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6050 ; - skos:exactMatch HGNC_symbol:RNH1 ; + skos:exactMatch UMLS:C1826843, + HGNC:10074, + HGNC_symbol:RNH1 ; biolink:category biolink:Gene . OMIM:173325 a owl:Class ; @@ -59212,7 +60673,6 @@ OMIM:173325 a owl:Class ; PMID:9272178 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:601214 ; - oboInOwl:hasDbXref UMLS:C1334295 ; oboInOwl:hasExactSynonym "JUP", "catenin, gamma", "desmoplakin 3", @@ -59221,7 +60681,9 @@ OMIM:173325 a owl:Class ; "plakoglobin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3728 ; - skos:exactMatch HGNC_symbol:JUP ; + skos:exactMatch UMLS:C1334295, + HGNC:6207, + HGNC_symbol:JUP ; biolink:category biolink:Gene . OMIM:173335 a owl:Class ; @@ -59267,14 +60729,6 @@ OMIM:173335 a owl:Class ; PMID:9662402 ; RO:0002525 CHR:9606chr6q23.2 ; RO:0003303 OMIM:601665 ; - oboInOwl:hasDbXref UMLS:C1414407, - UMLS:C1852091, - UMLS:C1866432, - UMLS:C2750078, - UMLS:C3809781, - UMLS:C3837967, - UMLS:C4551985, - UMLS:C5436943 ; oboInOwl:hasExactSynonym "ENPP1", "alkaline phosphodiesterase 1", "ectonucleotide pyrophosphatase/phosphodiesterase 1", @@ -59286,7 +60740,16 @@ OMIM:173335 a owl:Class ; "plasma cell membrane glycoprotein pc-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5167 ; - skos:exactMatch HGNC_symbol:ENPP1 ; + skos:exactMatch UMLS:C1414407, + UMLS:C1852091, + UMLS:C1866432, + UMLS:C2750078, + UMLS:C3809781, + UMLS:C3837967, + UMLS:C4551985, + UMLS:C5436943, + HGNC:3356, + HGNC_symbol:ENPP1 ; biolink:category biolink:Gene . OMIM:173340 a owl:Class ; @@ -59295,13 +60758,14 @@ OMIM:173340 a owl:Class ; PMID:2714803, PMID:7554360, PMID:9074645 ; - oboInOwl:hasDbXref UMLS:C1538678 ; oboInOwl:hasExactSynonym "PLGLB1", "plasminogen-like b1", "plasminogen-related gene B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5343 ; - skos:exactMatch HGNC_symbol:PLGLB1 ; + skos:exactMatch UMLS:C1538678, + HGNC:9072, + HGNC_symbol:PLGLB1 ; biolink:category biolink:Gene . OMIM:173350 a owl:Class ; @@ -59369,15 +60833,16 @@ OMIM:173350 a owl:Class ; PMID:9884337 ; RO:0002525 CHR:9606chr6q26 ; RO:0003303 OMIM:217090 ; - oboInOwl:hasDbXref UMLS:C0290149, - UMLS:C1367553 ; oboInOwl:hasExactSynonym "PLG", "angiostatin", "microplasmin", "plasminogen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5340 ; - skos:exactMatch HGNC_symbol:PLG ; + skos:exactMatch UMLS:C0290149, + UMLS:C1367553, + HGNC:9071, + HGNC_symbol:PLG ; biolink:category biolink:Gene . OMIM:173360 a owl:Class ; @@ -59417,14 +60882,15 @@ OMIM:173360 a owl:Class ; PMID:9484978, PMID:9700201 ; RO:0002525 CHR:9606chr7q22.1 ; - oboInOwl:hasDbXref UMLS:C1418252 ; oboInOwl:hasExactSynonym "SERPINE1", "endothelial plasminogen activator inhibitor", "plasminogen activator inhibitor 1", "serpin peptidase inhibitor, clade e (nexin, plasminogen activator inhibitor iia 1), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5054 ; - skos:exactMatch HGNC_symbol:SERPINE1 ; + skos:exactMatch UMLS:C1418252, + HGNC:8583, + HGNC_symbol:SERPINE1 ; biolink:category biolink:Gene . OMIM:173370 a owl:Class ; @@ -59454,13 +60920,14 @@ OMIM:173370 a owl:Class ; PMID:6572897 ; RO:0002525 CHR:9606chr8p11.21 ; RO:0003303 OMIM:612348 ; - oboInOwl:hasDbXref UMLS:C1367601 ; oboInOwl:hasExactSynonym "PLAT", "plasminogen activator, tissue", "tpa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5327 ; - skos:exactMatch HGNC_symbol:PLAT ; + skos:exactMatch UMLS:C1367601, + HGNC:9051, + HGNC_symbol:PLAT ; biolink:category biolink:Gene . OMIM:173390 a owl:Class ; @@ -59475,7 +60942,6 @@ OMIM:173390 a owl:Class ; PMID:7499264, PMID:9268635, PMID:9892694 ; - oboInOwl:hasDbXref UMLS:C1418253 ; oboInOwl:hasExactSynonym "SERPINB2", "monocyte arginine-serpin", "monocyte-derived plasminogen activator inhibitor", @@ -59485,7 +60951,9 @@ OMIM:173390 a owl:Class ; "urokinase inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5055 ; - skos:exactMatch HGNC_symbol:SERPINB2 ; + skos:exactMatch UMLS:C1418253, + HGNC:8584, + HGNC_symbol:SERPINB2 ; biolink:category biolink:Gene . OMIM:173391 a owl:Class ; @@ -59506,14 +60974,15 @@ OMIM:173391 a owl:Class ; PMID:20858596, PMID:21804539, PMID:8609247 ; - oboInOwl:hasDbXref UMLS:C1367689 ; oboInOwl:hasExactSynonym "PLAUR", "cd87 antigen", "plasminogen activator receptor, urokinase-type", "upa receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5329 ; - skos:exactMatch HGNC_symbol:PLAUR ; + skos:exactMatch UMLS:C1367689, + HGNC:9053, + HGNC_symbol:PLAUR ; biolink:category biolink:Gene . OMIM:173393 a owl:Class ; @@ -59528,27 +60997,28 @@ OMIM:173393 a owl:Class ; PMID:7566121, PMID:8383507, PMID:8978777 ; - oboInOwl:hasDbXref UMLS:C1419053 ; oboInOwl:hasExactSynonym "PTAFR", "pafr", "platelet-activating factor receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5724 ; - skos:exactMatch HGNC_symbol:PTAFR ; + skos:exactMatch UMLS:C1419053, + HGNC:9582, + HGNC_symbol:PTAFR ; biolink:category biolink:Gene . OMIM:173395 a owl:Class ; rdfs:label "platelet adenylate cyclase activity" ; IAO:0000142 PMID:1867196, PMID:3336400 ; - oboInOwl:hasDbXref UMLS:C1868264 ; - oboInOwl:hasExactSynonym "platelet adenylate cyclase activity" . + oboInOwl:hasExactSynonym "platelet adenylate cyclase activity" ; + skos:exactMatch UMLS:C1868264 . OMIM:173400 a owl:Class ; rdfs:label "platelet aggregation, spontaneous" ; IAO:0000142 PMID:1113767 ; - oboInOwl:hasDbXref UMLS:C1868263 ; - oboInOwl:hasExactSynonym "platelet aggregation, spontaneous" . + oboInOwl:hasExactSynonym "platelet aggregation, spontaneous" ; + skos:exactMatch UMLS:C1868263 . OMIM:173410 a owl:Class ; rdfs:label "PDGFRB" ; @@ -59593,11 +61063,6 @@ OMIM:173410 a owl:Class ; PMID:9373237 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:601812 ; - oboInOwl:hasDbXref UMLS:C1335202, - UMLS:C1866182, - UMLS:C3554321, - UMLS:C4225270, - UMLS:C4551572 ; oboInOwl:hasExactSynonym "PDGFRB", "pdgfr", "pdgfr1", @@ -59609,14 +61074,20 @@ OMIM:173410 a owl:Class ; "platelet-derived growth factor receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5159 ; - skos:exactMatch HGNC_symbol:PDGFRB ; + skos:exactMatch UMLS:C1335202, + UMLS:C1866182, + UMLS:C3554321, + UMLS:C4225270, + UMLS:C4551572, + HGNC:8804, + HGNC_symbol:PDGFRB ; biolink:category biolink:Gene . OMIM:173420 a owl:Class ; rdfs:label "platelet disorder, undefined" ; IAO:0000142 PMID:3855665 ; - oboInOwl:hasDbXref UMLS:C1868258 ; - oboInOwl:hasExactSynonym "platelet disorder, undefined" . + oboInOwl:hasExactSynonym "platelet disorder, undefined" ; + skos:exactMatch UMLS:C1868258 . OMIM:173430 a owl:Class ; rdfs:label "PDGFA" ; @@ -59630,13 +61101,14 @@ OMIM:173430 a owl:Class ; PMID:3422746, PMID:3754619, PMID:8681381 ; - oboInOwl:hasDbXref UMLS:C1335200 ; oboInOwl:hasExactSynonym "PDGFA", "platelet-derived growth factor, a chain", "platelet-derived growth factor, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5154 ; - skos:exactMatch HGNC_symbol:PDGFA ; + skos:exactMatch UMLS:C1335200, + HGNC:8799, + HGNC_symbol:PDGFA ; biolink:category biolink:Gene . OMIM:173445 a owl:Class ; @@ -59657,20 +61129,21 @@ OMIM:173445 a owl:Class ; PMID:8921400, PMID:9011572, PMID:9884328 ; - oboInOwl:hasDbXref UMLS:C1335205 ; oboInOwl:hasExactSynonym "PECAM1", "cd31", "platelet-endothelial cell adhesion molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5175 ; - skos:exactMatch HGNC_symbol:PECAM1 ; + skos:exactMatch UMLS:C1335205, + HGNC:8823, + HGNC_symbol:PECAM1 ; biolink:category biolink:Gene . OMIM:173450 a owl:Class ; rdfs:label "platelet factor 3 deficiency" ; IAO:0000142 PMID:7189110 ; - oboInOwl:hasDbXref UMLS:C1868256 ; - oboInOwl:hasExactSynonym "platelet factor 3 deficiency" . + oboInOwl:hasExactSynonym "platelet factor 3 deficiency" ; + skos:exactMatch UMLS:C1868256 . OMIM:173460 a owl:Class ; rdfs:label "PF4" ; @@ -59686,14 +61159,15 @@ OMIM:173460 a owl:Class ; PMID:3622011, PMID:8574748, PMID:9465307 ; - oboInOwl:hasDbXref UMLS:C1335206 ; oboInOwl:hasExactSynonym "PF4", "chemokine, cxc motif, ligand 4", "platelet factor 4", "small inducible cytokine subfamily b, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5196 ; - skos:exactMatch HGNC_symbol:PF4 ; + skos:exactMatch UMLS:C1335206, + HGNC:8861, + HGNC_symbol:PF4 ; biolink:category biolink:Gene . OMIM:173461 a owl:Class ; @@ -59703,7 +61177,6 @@ OMIM:173461 a owl:Class ; PMID:2725510, PMID:2881257, PMID:9465307 ; - oboInOwl:hasDbXref UMLS:C1418480 ; oboInOwl:hasExactSynonym "PF4V1", "cxcl4 variant 1", "cxcl4-like 1", @@ -59712,7 +61185,9 @@ OMIM:173461 a owl:Class ; "platelet factor 4-alternate" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5197 ; - skos:exactMatch HGNC_symbol:PF4V1 ; + skos:exactMatch UMLS:C1418480, + HGNC:8862, + HGNC_symbol:PF4V1 ; biolink:category biolink:Gene . OMIM:173470 a owl:Class ; @@ -59795,7 +61270,6 @@ OMIM:173470 a owl:Class ; PMID:9916135 ; RO:0002525 CHR:9606chr17q21.32 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1416498 ; oboInOwl:hasExactSynonym "ITGB3", "cd61", "gp iiia", @@ -59804,7 +61278,9 @@ OMIM:173470 a owl:Class ; "platelet glycoprotein iiia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3690 ; - skos:exactMatch HGNC_symbol:ITGB3 ; + skos:exactMatch UMLS:C1416498, + HGNC:6156, + HGNC_symbol:ITGB3 ; biolink:category biolink:Gene . OMIM:173490 a owl:Class ; @@ -59851,9 +61327,6 @@ OMIM:173490 a owl:Class ; PMID:9826722 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:607685 ; - oboInOwl:hasDbXref UMLS:C1335201, - UMLS:C1868218, - UMLS:C1868219 ; oboInOwl:hasExactSynonym "PDGFRA", "pdgfr2", "pdgfra/bcr fusion gene", @@ -59861,7 +61334,11 @@ OMIM:173490 a owl:Class ; "platelet-derived growth factor receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5156 ; - skos:exactMatch HGNC_symbol:PDGFRA ; + skos:exactMatch UMLS:C1335201, + UMLS:C1868218, + UMLS:C1868219, + HGNC:8803, + HGNC_symbol:PDGFRA ; biolink:category biolink:Gene . OMIM:173500 a owl:Class ; @@ -59872,10 +61349,10 @@ OMIM:173500 a owl:Class ; PMID:4858382, PMID:5063961, PMID:5324090 ; - oboInOwl:hasDbXref UMLS:C1873499 ; oboInOwl:hasExactSynonym "HPA-2", "platelet groups--ko system", "sib(a)" ; + skos:exactMatch UMLS:C1873499 ; biolink:category biolink:Disease . OMIM:173510 a owl:Class ; @@ -59927,7 +61404,6 @@ OMIM:173510 a owl:Class ; PMID:9916795 ; RO:0002525 CHR:9606chr7q21.11 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1366645 ; oboInOwl:hasExactSynonym "CD36", "cd36 antigen", "collagen receptor, platelet", @@ -59939,7 +61415,9 @@ OMIM:173510 a owl:Class ; "thrombospondin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:948 ; - skos:exactMatch HGNC_symbol:CD36 ; + skos:exactMatch UMLS:C1366645, + HGNC:1663, + HGNC_symbol:CD36 ; biolink:category biolink:Gene . OMIM:173511 a owl:Class ; @@ -59952,14 +61430,15 @@ OMIM:173511 a owl:Class ; PMID:8407908, PMID:8519770, PMID:9616133 ; - oboInOwl:hasDbXref UMLS:C1415189 ; oboInOwl:hasExactSynonym "GP5", "glycoprotein v, platelet", "gp 5", "platelet glycoprotein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2814 ; - skos:exactMatch HGNC_symbol:GP5 ; + skos:exactMatch UMLS:C1415189, + HGNC:4443, + HGNC_symbol:GP5 ; biolink:category biolink:Gene . OMIM:173515 a owl:Class ; @@ -59978,20 +61457,21 @@ OMIM:173515 a owl:Class ; PMID:9886312 ; RO:0002525 CHR:9606chr3q21.3 ; RO:0003303 OMIM:231200 ; - oboInOwl:hasDbXref UMLS:C1439350 ; oboInOwl:hasExactSynonym "GP9", "glycoprotein ix, platelet", "gp 9", "platelet glycoprotein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2815 ; - skos:exactMatch HGNC_symbol:GP9 ; + skos:exactMatch UMLS:C1439350, + HGNC:4444, + HGNC_symbol:GP9 ; biolink:category biolink:Gene . OMIM:173540 a owl:Class ; rdfs:label "platelet groups--pl(e) system" ; - oboInOwl:hasDbXref UMLS:C1868202 ; oboInOwl:hasExactSynonym "platelet groups--pl(e) system" ; + skos:exactMatch UMLS:C1868202 ; biolink:category biolink:Disease . OMIM:173560 a owl:Class ; @@ -60000,36 +61480,37 @@ OMIM:173560 a owl:Class ; PMID:2729275, PMID:3233233, PMID:3659926 ; - oboInOwl:hasDbXref UMLS:C1868201 ; oboInOwl:hasExactSynonym "PMF", - "platelet membrane fluidity" . + "platelet membrane fluidity" ; + skos:exactMatch UMLS:C1868201 . OMIM:173570 a owl:Class ; rdfs:label "PLEK" ; IAO:0000142 PMID:10860665, PMID:2768345, PMID:2897630 ; - oboInOwl:hasDbXref UMLS:C1418644 ; oboInOwl:hasExactSynonym "PLEK", "platelet and leukocyte c kinase substrate", "platelet p47", "pleckstrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5341 ; - skos:exactMatch HGNC_symbol:PLEK ; + skos:exactMatch UMLS:C1418644, + HGNC:9070, + HGNC_symbol:PLEK ; biolink:category biolink:Gene . OMIM:173580 a owl:Class ; rdfs:label "platelet responsiveness to adrenaline, depressed" ; IAO:0000142 PMID:6794593 ; - oboInOwl:hasDbXref UMLS:C1868200 ; - oboInOwl:hasExactSynonym "platelet responsiveness to adrenaline, depressed" . + oboInOwl:hasExactSynonym "platelet responsiveness to adrenaline, depressed" ; + skos:exactMatch UMLS:C1868200 . OMIM:173590 a owl:Class ; rdfs:label "platelet signal processing defect" ; IAO:0000142 PMID:3689696 ; - oboInOwl:hasDbXref UMLS:C1868199 ; - oboInOwl:hasExactSynonym "platelet signal processing defect" . + oboInOwl:hasExactSynonym "platelet signal processing defect" ; + skos:exactMatch UMLS:C1868199 . OMIM:173600 a owl:Class ; rdfs:label "pneumothorax, primary spontaneous" ; @@ -60048,9 +61529,9 @@ OMIM:173600 a owl:Class ; PMID:6967392, PMID:9624302, PMID:968792 ; - oboInOwl:hasDbXref UMLS:C1868193 ; oboInOwl:hasExactSynonym "pneumothorax, primary spontaneous", "psp" ; + skos:exactMatch UMLS:C1868193 ; biolink:category biolink:Disease . OMIM:173610 a owl:Class ; @@ -60081,7 +61562,6 @@ OMIM:173610 a owl:Class ; PMID:7688665, PMID:8698129, PMID:9668170 ; - oboInOwl:hasDbXref UMLS:C1335809 ; oboInOwl:hasExactSynonym "SELP", "cd62", "gmp140", @@ -60091,15 +61571,17 @@ OMIM:173610 a owl:Class ; "selectin p" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6403 ; - skos:exactMatch HGNC_symbol:SELP ; + skos:exactMatch UMLS:C1335809, + HGNC:10721, + HGNC_symbol:SELP ; biolink:category biolink:Gene . OMIM:173700 a owl:Class ; rdfs:label "poikiloderma, hereditary sclerosing" ; IAO:0000142 PMID:5358102, PMID:8745690 ; - oboInOwl:hasDbXref UMLS:C0343094 ; - oboInOwl:hasExactSynonym "poikiloderma, hereditary sclerosing" . + oboInOwl:hasExactSynonym "poikiloderma, hereditary sclerosing" ; + skos:exactMatch UMLS:C0343094 . OMIM:173750 a owl:Class ; oboInOwl:consider OMIM:157900, @@ -60124,7 +61606,6 @@ OMIM:173850 a owl:Class ; PMID:2852161, PMID:3020560, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1419141 ; oboInOwl:hasExactSynonym "PVR", "cd155", "nectin-like protein 5", @@ -60132,7 +61613,9 @@ OMIM:173850 a owl:Class ; "pvs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5817 ; - skos:exactMatch HGNC_symbol:PVR ; + skos:exactMatch UMLS:C1419141, + HGNC:9705, + HGNC_symbol:PVR ; biolink:category biolink:Gene . OMIM:173865 a owl:Class ; @@ -60154,14 +61637,15 @@ OMIM:173880 a owl:Class ; PMID:1682231, PMID:3197448, PMID:3917857 ; - oboInOwl:hasDbXref UMLS:C1418569 ; oboInOwl:hasExactSynonym "PIGR", "poly-ig receptor", "polymeric immunoglobulin receptor", "transmembrane secretory component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5284 ; - skos:exactMatch HGNC_symbol:PIGR ; + skos:exactMatch UMLS:C1418569, + HGNC:8968, + HGNC_symbol:PIGR ; biolink:category biolink:Gene . OMIM:173910 a owl:Class ; @@ -60227,7 +61711,6 @@ OMIM:173910 a owl:Class ; PMID:9949210 ; RO:0002525 CHR:9606chr4q22.1 ; RO:0003303 OMIM:613095 ; - oboInOwl:hasDbXref UMLS:C1418600 ; oboInOwl:hasExactSynonym "PKD2", "pc2", "pkd2 gene", @@ -60235,7 +61718,9 @@ OMIM:173910 a owl:Class ; "trpp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5311 ; - skos:exactMatch HGNC_symbol:PKD2 ; + skos:exactMatch UMLS:C1418600, + HGNC:9009, + HGNC_symbol:PKD2 ; biolink:category biolink:Gene . OMIM:174100 a owl:Class ; @@ -60259,33 +61744,33 @@ OMIM:174200 a owl:Class ; PMID:9042919, PMID:955643, PMID:9880210 ; - oboInOwl:hasDbXref UMLS:C1868120, - UMLS:C3887487, - UMLS:C4282400 ; oboInOwl:hasExactSynonym "PAPA1", "polydactyly, postaxial", "polydactyly, postaxial, iia a1", "postaxial polydactyly, iia B", "postaxial polydactyly, iia a" ; rdfs:subClassOf OMIMPS:174200 ; + skos:exactMatch UMLS:C1868120, + UMLS:C3887487, + UMLS:C4282400 ; biolink:category biolink:Disease . OMIM:174310 a owl:Class ; rdfs:label "polydactyly, postaxial, with progressive myopia" ; IAO:0000142 PMID:3802559 ; - oboInOwl:hasDbXref UMLS:C1868117 ; oboInOwl:hasExactSynonym "polydactyly, postaxial, with progressive myopia", - "polydactyly-myopia syndrome" . + "polydactyly-myopia syndrome" ; + skos:exactMatch UMLS:C1868117 . OMIM:174600 a owl:Class ; rdfs:label "polydactyly, preaxial 3" ; IAO:0000142 PMID:1018306, PMID:14048524 ; - oboInOwl:hasDbXref UMLS:C1868113 ; oboInOwl:hasExactSynonym "PPD3", "index finger polydactyly", "polydactyly, preaxial 3" ; rdfs:subClassOf OMIMPS:174400 ; + skos:exactMatch UMLS:C1868113 ; biolink:category biolink:Disease . OMIM:174760 a owl:Class ; @@ -60302,12 +61787,13 @@ OMIM:174760 a owl:Class ; PMID:8168825, PMID:8550496, PMID:9294209 ; - oboInOwl:hasDbXref UMLS:C1335230 ; oboInOwl:hasExactSynonym "POLB", "polymerase, dna, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5423 ; - skos:exactMatch HGNC_symbol:POLB ; + skos:exactMatch UMLS:C1335230, + HGNC:9174, + HGNC_symbol:POLB ; biolink:category biolink:Gene . OMIM:174761 a owl:Class ; @@ -60336,13 +61822,14 @@ OMIM:174761 a owl:Class ; PMID:9434960 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:612591 ; - oboInOwl:hasDbXref UMLS:C1418727 ; oboInOwl:hasExactSynonym "POLD1", "polymerase (dna-directed), delta 1, catalytic subunit", "polymerase, dna, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5424 ; - skos:exactMatch HGNC_symbol:POLD1 ; + skos:exactMatch UMLS:C1418727, + HGNC:9175, + HGNC_symbol:POLD1 ; biolink:category biolink:Gene . OMIM:174762 a owl:Class ; @@ -60361,13 +61848,14 @@ OMIM:174762 a owl:Class ; PMID:9434959 ; RO:0002525 CHR:9606chr12q24.33 ; RO:0003303 OMIM:615083 ; - oboInOwl:hasDbXref UMLS:C1418729 ; oboInOwl:hasExactSynonym "POLE", "polymerase, dna, epsilon", "polymerase, dna, epsilon-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5426 ; - skos:exactMatch HGNC_symbol:POLE ; + skos:exactMatch UMLS:C1418729, + HGNC:9177, + HGNC_symbol:POLE ; biolink:category biolink:Gene . OMIM:174763 a owl:Class ; @@ -60437,7 +61925,6 @@ OMIM:174763 a owl:Class ; PMID:9465903 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:258450 ; - oboInOwl:hasDbXref UMLS:C1418731 ; oboInOwl:hasExactSynonym "POLG", "polg, catalytic subunit", "polg-alpha", @@ -60445,7 +61932,9 @@ OMIM:174763 a owl:Class ; "polymerase, dna, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5428 ; - skos:exactMatch HGNC_symbol:POLG ; + skos:exactMatch UMLS:C1418731, + HGNC:9179, + HGNC_symbol:POLG ; biolink:category biolink:Gene . OMIM:174770 a owl:Class ; @@ -60458,11 +61947,11 @@ OMIM:174770 a owl:Class ; PMID:3547354, PMID:629543, PMID:7420635 ; - oboInOwl:hasDbXref UMLS:C0406217, - UMLS:C1868090 ; oboInOwl:hasExactSynonym "actinic prurigo", "juvenile spring eruption of ears", "polymorphic light eruption, hereditary" ; + skos:exactMatch UMLS:C0406217, + UMLS:C1868090 ; biolink:category biolink:Disease . OMIM:174810 a owl:Class ; @@ -60480,23 +61969,23 @@ OMIM:174810 a owl:Class ; PMID:2774005, PMID:3346299, PMID:7911698 ; - oboInOwl:hasDbXref UMLS:C0432292 ; oboInOwl:hasExactSynonym "FEO", "expansile osteolysis, familial", "familial expansile osteolysis", "mccabe disease", "polyostotic osteolytic dysplasia, hereditary expansile" ; + skos:exactMatch UMLS:C0432292 ; biolink:category biolink:Disease . OMIM:174880 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:7160847 ; - oboInOwl:hasDbXref UMLS:C1868083 ; oboInOwl:hasExactSynonym "cp100", "lcp100", "lymphocyte cytosol polypeptide, 100-kd", "polypeptide of lymphocyte cytosol, 100-kd" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1868083 ; biolink:category biolink:Gene . OMIM:175000 a owl:Class ; @@ -60521,7 +62010,6 @@ OMIM:175050 a owl:Class ; PMID:6604412, PMID:7372073, PMID:8078721 ; - oboInOwl:hasDbXref UMLS:C1832942 ; oboInOwl:hasExactSynonym "JPHT", "jp/hht syndrome", "jps/hht", @@ -60529,6 +62017,7 @@ OMIM:175050 a owl:Class ; "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome", "polyposis, generalized juvenile, with pulmonary arteriovenous malformation", "telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli" ; + skos:exactMatch UMLS:C1832942 ; biolink:category biolink:Disease . OMIM:175100 a owl:Class ; @@ -60725,16 +62214,6 @@ OMIM:175100 a owl:Class ; PMID:9585611, PMID:9585618, PMID:9778042 ; - oboInOwl:hasDbXref UMLS:C0017097, - UMLS:C0032580, - UMLS:C2673218, - UMLS:C2674616, - UMLS:C2713442, - ORPHA:220460, - ORPHA:247806, - ORPHA:733, - ORPHA:79665, - ORPHA:99818 ; oboInOwl:hasExactSynonym "FAP1", "adenoma, periampullary, somatic", "adenomatous polyposis coli, attenuated", @@ -60746,6 +62225,16 @@ OMIM:175100 a owl:Class ; "gardner syndrome", "polyposis, adenomatous intestinal" ; rdfs:subClassOf OMIMPS:175100 ; + skos:exactMatch UMLS:C0017097, + UMLS:C0032580, + UMLS:C2673218, + UMLS:C2674616, + UMLS:C2713442, + ORPHA:220460, + ORPHA:247806, + ORPHA:733, + ORPHA:79665, + ORPHA:99818 ; biolink:category biolink:Disease . OMIM:175200 a owl:Class ; @@ -60825,26 +62314,26 @@ OMIM:175200 a owl:Class ; PMID:9837816, PMID:9850045, PMID:990720 ; - oboInOwl:hasDbXref UMLS:C0031269 ; oboInOwl:hasExactSynonym "PJS", "peutz-jeghers syndrome", "polyposis, hamartomatous intestinal", "polyps-and-spots syndrome" ; + skos:exactMatch UMLS:C0031269 ; biolink:category biolink:Disease . OMIM:175400 a owl:Class ; rdfs:label "polyposis, intestinal, scattered and discrete" ; IAO:0000142 PMID:1109772, PMID:14352180 ; - oboInOwl:hasDbXref UMLS:C1868006 ; oboInOwl:hasExactSynonym "polyposis, intestinal, scattered and discrete", - "polyps, scattered, discrete intestinal" . + "polyps, scattered, discrete intestinal" ; + skos:exactMatch UMLS:C1868006 . OMIM:175450 a owl:Class ; rdfs:label "polyposis, intestinal, with multiple exostoses" ; IAO:0000142 PMID:1081041 ; - oboInOwl:hasDbXref UMLS:C1868005 ; - oboInOwl:hasExactSynonym "polyposis, intestinal, with multiple exostoses" . + oboInOwl:hasExactSynonym "polyposis, intestinal, with multiple exostoses" ; + skos:exactMatch UMLS:C1868005 . OMIM:175500 a owl:Class ; rdfs:label "polyposis, skin pigmentation, alopecia, and fingernail changes" ; @@ -60852,9 +62341,9 @@ OMIM:175500 a owl:Class ; PMID:21881972, PMID:5900949, PMID:5917424 ; - oboInOwl:hasDbXref UMLS:C0282207 ; oboInOwl:hasExactSynonym "cronkhite-canada syndrome", - "polyposis, skin pigmentation, alopecia, and fingernail changes" . + "polyposis, skin pigmentation, alopecia, and fingernail changes" ; + skos:exactMatch UMLS:C0282207 . OMIM:175505 a owl:Class ; IAO:0100001 OMIM:619182 ; @@ -60873,18 +62362,18 @@ OMIM:175510 a owl:Class ; PMID:3152526, PMID:4956347, PMID:6745724 ; - oboInOwl:hasDbXref UMLS:C5193005 ; oboInOwl:hasExactSynonym "GISTPS", "gist-plus syndrome", "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, formerly" ; + skos:exactMatch UMLS:C5193005 ; biolink:category biolink:Disease . OMIM:175690 a owl:Class ; rdfs:label "polysyndactyly, crossed" ; IAO:0000142 PMID:14276178, PMID:8042663 ; - oboInOwl:hasDbXref UMLS:C1867999 ; oboInOwl:hasExactSynonym "polysyndactyly, crossed" ; + skos:exactMatch UMLS:C1867999 ; biolink:category biolink:Disease . OMIM:175700 a owl:Class ; @@ -60927,18 +62416,18 @@ OMIM:175700 a owl:Class ; PMID:8985483, PMID:9220202, PMID:9302279 ; - oboInOwl:hasDbXref UMLS:C0265306 ; oboInOwl:hasExactSynonym "GCPS", "greig cephalopolysyndactyly syndrome", "polysyndactyly with peculiar skull shape" ; + skos:exactMatch UMLS:C0265306 ; biolink:category biolink:Disease . OMIM:175750 a owl:Class ; rdfs:label "popliteal cyst" ; IAO:0000142 PMID:5080689 ; - oboInOwl:hasDbXref UMLS:C0032650 ; oboInOwl:hasExactSynonym "baker cyst", - "popliteal cyst" . + "popliteal cyst" ; + skos:exactMatch UMLS:C0032650 . OMIM:175860 a owl:Class ; rdfs:label "palmoplantar keratoderma, punctate iia 2" ; @@ -60948,10 +62437,10 @@ OMIM:175860 a owl:Class ; PMID:4809220, PMID:5131713, PMID:8651714 ; - oboInOwl:hasDbXref UMLS:C1867982 ; oboInOwl:hasExactSynonym "PPKP2", "palmoplantar keratoderma, punctate iia 2", "porokeratosis punctata palmaris et plantaris" ; + skos:exactMatch UMLS:C1867982 ; biolink:category biolink:Disease . OMIM:176010 a owl:Class ; @@ -60971,35 +62460,36 @@ OMIM:176090 a owl:Class ; PMID:9024376, PMID:9918132, PMID:993332 ; - oboInOwl:hasDbXref UMLS:C1867968 ; oboInOwl:hasExactSynonym "pct, iia 1", "pct, 'sporadic' iia", - "porphyria cutanea tarda, iia 1" . + "porphyria cutanea tarda, iia 1" ; + skos:exactMatch UMLS:C1867968 . OMIM:176240 a owl:Class ; rdfs:label "postaxial oligodactyly, tetramelic" ; IAO:0000142 PMID:8100684 ; - oboInOwl:hasDbXref UMLS:C1867924 ; - oboInOwl:hasExactSynonym "postaxial oligodactyly, tetramelic" . + oboInOwl:hasExactSynonym "postaxial oligodactyly, tetramelic" ; + skos:exactMatch UMLS:C1867924 . OMIM:176250 a owl:Class ; rdfs:label "posterior column ataxia" ; IAO:0000142 PMID:14872985, PMID:4761598 ; - oboInOwl:hasDbXref UMLS:C1867923 ; oboInOwl:hasExactSynonym "biemond ataxia", - "posterior column ataxia" . + "posterior column ataxia" ; + skos:exactMatch UMLS:C1867923 . OMIM:176256 a owl:Class ; rdfs:label "KCNC2" ; IAO:0000142 PMID:2305265, PMID:8111118 ; - oboInOwl:hasDbXref UMLS:C1416557 ; oboInOwl:hasExactSynonym "KCNC2", "potassium channel, voltage-gated, shaw-related subfamily, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3747 ; - skos:exactMatch HGNC_symbol:KCNC2 ; + skos:exactMatch UMLS:C1416557, + HGNC:6234, + HGNC_symbol:KCNC2 ; biolink:category biolink:Gene . OMIM:176257 a owl:Class ; @@ -61008,13 +62498,14 @@ OMIM:176257 a owl:Class ; PMID:2347305, PMID:7905852, PMID:8821794 ; - oboInOwl:hasDbXref UMLS:C1416549 ; oboInOwl:hasExactSynonym "KCNA6", "hbk2", "potassium channel, voltage-gated, shaker-related subfamily, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3742 ; - skos:exactMatch HGNC_symbol:KCNA6 ; + skos:exactMatch UMLS:C1416549, + HGNC:6225, + HGNC_symbol:KCNA6 ; biolink:category biolink:Gene . OMIM:176258 a owl:Class ; @@ -61026,14 +62517,15 @@ OMIM:176258 a owl:Class ; PMID:8449507 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:616187 ; - oboInOwl:hasDbXref UMLS:C1416556 ; oboInOwl:hasExactSynonym "KCNC1", "kv3.1", "ngk2", "potassium channel, voltage-gated, shaw-related subfamily, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3746 ; - skos:exactMatch HGNC_symbol:KCNC1 ; + skos:exactMatch UMLS:C1416556, + HGNC:6233, + HGNC_symbol:KCNC1 ; biolink:category biolink:Gene . OMIM:176260 a owl:Class ; @@ -61071,14 +62563,15 @@ OMIM:176260 a owl:Class ; PMID:9600245 ; RO:0002525 CHR:9606chr12p13.32 ; RO:0003303 OMIM:160120 ; - oboInOwl:hasDbXref UMLS:C1416543 ; oboInOwl:hasExactSynonym "KCNA1", "kv1.1", "mk1, mouse, homolog of", "potassium channel, voltage-gated, shaker-related subfamily, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3736 ; - skos:exactMatch HGNC_symbol:KCNA1 ; + skos:exactMatch UMLS:C1416543, + HGNC:6218, + HGNC_symbol:KCNA1 ; biolink:category biolink:Gene . OMIM:176261 a owl:Class ; @@ -61110,14 +62603,15 @@ OMIM:176261 a owl:Class ; PMID:9790991 ; RO:0002525 CHR:9606chr21q22.12 ; RO:0003303 OMIM:613695 ; - oboInOwl:hasDbXref UMLS:C1416563 ; oboInOwl:hasExactSynonym "KCNE1", "isk", "minimal potassium ion channel", "potassium channel, voltage-gated, isk-related subfamily, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3753 ; - skos:exactMatch HGNC_symbol:KCNE1 ; + skos:exactMatch UMLS:C1416563, + HGNC:6240, + HGNC_symbol:KCNE1 ; biolink:category biolink:Gene . OMIM:176262 a owl:Class ; @@ -61138,15 +62632,16 @@ OMIM:176262 a owl:Class ; PMID:7905852 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:616366 ; - oboInOwl:hasDbXref UMLS:C1416545, - UMLS:C4225350 ; oboInOwl:hasExactSynonym "KCNA2", "kv1.2", "mk2, mouse, homolog of", "potassium channel, voltage-gated, shaker-related subfamily, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3737 ; - skos:exactMatch HGNC_symbol:KCNA2 ; + skos:exactMatch UMLS:C1416545, + UMLS:C4225350, + HGNC:6220, + HGNC_symbol:KCNA2 ; biolink:category biolink:Gene . OMIM:176263 a owl:Class ; @@ -61158,7 +62653,6 @@ OMIM:176263 a owl:Class ; PMID:2251283, PMID:2305265, PMID:7829094 ; - oboInOwl:hasDbXref UMLS:C1416546 ; oboInOwl:hasExactSynonym "KCNA3", "kv1.3", "mk3, mouse, homolog of", @@ -61166,7 +62660,9 @@ OMIM:176263 a owl:Class ; "potassium channel, voltage-gated, shaker-related subfamily, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3738 ; - skos:exactMatch HGNC_symbol:KCNA3 ; + skos:exactMatch UMLS:C1416546, + HGNC:6221, + HGNC_symbol:KCNA3 ; biolink:category biolink:Gene . OMIM:176264 a owl:Class ; @@ -61181,12 +62677,13 @@ OMIM:176264 a owl:Class ; PMID:9488722 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:605259 ; - oboInOwl:hasDbXref UMLS:C1416558 ; oboInOwl:hasExactSynonym "KCNC3", "potassium channel, voltage-gated, shaw-related subfamily, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3748 ; - skos:exactMatch HGNC_symbol:KCNC3 ; + skos:exactMatch UMLS:C1416558, + HGNC:6235, + HGNC_symbol:KCNC3 ; biolink:category biolink:Gene . OMIM:176265 a owl:Class ; @@ -61194,12 +62691,13 @@ OMIM:176265 a owl:Class ; IAO:0000142 PMID:1740329, PMID:1920536, PMID:2305265 ; - oboInOwl:hasDbXref UMLS:C1416559 ; oboInOwl:hasExactSynonym "KCNC4", "potassium channel, voltage-gated, shaw-related subfamily, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3749 ; - skos:exactMatch HGNC_symbol:KCNC4 ; + skos:exactMatch UMLS:C1416559, + HGNC:6236, + HGNC_symbol:KCNC4 ; biolink:category biolink:Gene . OMIM:176267 a owl:Class ; @@ -61218,7 +62716,6 @@ OMIM:176267 a owl:Class ; PMID:8821794 ; RO:0002525 CHR:9606chr12p13.32 ; RO:0003303 OMIM:612240 ; - oboInOwl:hasDbXref UMLS:C1416548 ; oboInOwl:hasExactSynonym "KCNA5", "hck1", "hk2", @@ -61227,7 +62724,9 @@ OMIM:176267 a owl:Class ; "potassium channel, voltage-gated, shaker-related subfamily, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3741 ; - skos:exactMatch HGNC_symbol:KCNA5 ; + skos:exactMatch UMLS:C1416548, + HGNC:6224, + HGNC_symbol:KCNA5 ; biolink:category biolink:Gene . OMIM:176268 a owl:Class ; @@ -61235,12 +62734,13 @@ OMIM:176268 a owl:Class ; IAO:0000142 PMID:11896454, PMID:2305265, PMID:9488722 ; - oboInOwl:hasDbXref UMLS:C1416550 ; oboInOwl:hasExactSynonym "KCNA7", "potassium channel, voltage-gated, shaker-related subfamily, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3743 ; - skos:exactMatch HGNC_symbol:KCNA7 ; + skos:exactMatch UMLS:C1416550, + HGNC:6226, + HGNC_symbol:KCNA7 ; biolink:category biolink:Gene . OMIM:176269 a owl:Class ; @@ -61273,7 +62773,6 @@ OMIM:176290 a owl:Class ; PMID:8095043, PMID:8500166, PMID:8662506 ; - oboInOwl:hasDbXref UMLS:C1414069 ; oboInOwl:hasExactSynonym "DLK1", "delta, drosophila, homolog-like 1", "delta-like noncanonical notch ligand 1", @@ -61282,7 +62781,9 @@ OMIM:176290 a owl:Class ; "preadipocyte factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8788 ; - skos:exactMatch HGNC_symbol:DLK1 ; + skos:exactMatch UMLS:C1414069, + HGNC:2907, + HGNC_symbol:DLK1 ; biolink:category biolink:Gene . OMIM:176300 a owl:Class ; @@ -61524,24 +63025,25 @@ OMIM:176300 a owl:Class ; PMID:9843084 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:145680 ; - oboInOwl:hasDbXref UMLS:C1421224 ; oboInOwl:hasExactSynonym "TTR", "palb", "prealbumin, thyroxine-binding", "transthyretin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7276 ; - skos:exactMatch HGNC_symbol:TTR ; + skos:exactMatch UMLS:C1421224, + HGNC:12405, + HGNC_symbol:TTR ; biolink:category biolink:Gene . OMIM:176305 a owl:Class ; rdfs:label "preaxial deficiency, postaxial polydactyly, and hypospadias" ; IAO:0000142 PMID:11968094, PMID:8484413 ; - oboInOwl:hasDbXref UMLS:C1867801, - ORPHA:2957 ; oboInOwl:hasExactSynonym "guttmacher syndrome", "preaxial deficiency, postaxial polydactyly, and hypospadias" ; + skos:exactMatch UMLS:C1867801, + ORPHA:2957 ; biolink:category biolink:Disease . OMIM:176311 a owl:Class ; @@ -61551,13 +63053,14 @@ OMIM:176311 a owl:Class ; PMID:7835890, PMID:8661110, PMID:9482739 ; - oboInOwl:hasDbXref UMLS:C1418286 ; oboInOwl:hasExactSynonym "PBX2", "homeobox 12", "pre-b-cell leukemia transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5089 ; - skos:exactMatch HGNC_symbol:PBX2 ; + skos:exactMatch UMLS:C1418286, + HGNC:8633, + HGNC_symbol:PBX2 ; biolink:category biolink:Gene . OMIM:176312 a owl:Class ; @@ -61567,12 +63070,13 @@ OMIM:176312 a owl:Class ; PMID:1682799, PMID:8088777, PMID:8661110 ; - oboInOwl:hasDbXref UMLS:C1335196 ; oboInOwl:hasExactSynonym "PBX3", "pre-b-cell leukemia transcription factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5090 ; - skos:exactMatch HGNC_symbol:PBX3 ; + skos:exactMatch UMLS:C1335196, + HGNC:8634, + HGNC_symbol:PBX3 ; biolink:category biolink:Gene . OMIM:176385 a owl:Class ; @@ -61594,7 +63098,6 @@ OMIM:176385 a owl:Class ; PMID:7685339, PMID:7774911, PMID:8620868 ; - oboInOwl:hasDbXref UMLS:C1442932 ; oboInOwl:hasExactSynonym "PAPPA", "differentially expressed 1n placenta 1", "igfbp4 protease", @@ -61603,7 +63106,9 @@ OMIM:176385 a owl:Class ; "pregnancy-associated plasma protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5069 ; - skos:exactMatch HGNC_symbol:PAPPA ; + skos:exactMatch UMLS:C1442932, + HGNC:8602, + HGNC_symbol:PAPPA ; biolink:category biolink:Gene . OMIM:176390 a owl:Class ; @@ -61626,7 +63131,6 @@ OMIM:176390 a owl:Class ; PMID:7851895, PMID:7851896, PMID:971765 ; - oboInOwl:hasDbXref UMLS:C1418991 ; oboInOwl:hasExactSynonym "PSG1", "b1g1", "pregnancy-specific beta-1-glycoprotein 1", @@ -61634,7 +63138,9 @@ OMIM:176390 a owl:Class ; "psgga" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5669 ; - skos:exactMatch HGNC_symbol:PSG1 ; + skos:exactMatch UMLS:C1418991, + HGNC:9514, + HGNC_symbol:PSG1 ; biolink:category biolink:Gene . OMIM:176391 a owl:Class ; @@ -61649,14 +63155,15 @@ OMIM:176391 a owl:Class ; PMID:7851895, PMID:7851896, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1418994 ; oboInOwl:hasExactSynonym "PSG2", "pregnancy-specific beta-1-glycoprotein 2", "psbg2", "psggb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5670 ; - skos:exactMatch HGNC_symbol:PSG2 ; + skos:exactMatch UMLS:C1418994, + HGNC:9519, + HGNC_symbol:PSG2 ; biolink:category biolink:Gene . OMIM:176392 a owl:Class ; @@ -61669,12 +63176,13 @@ OMIM:176392 a owl:Class ; PMID:7851895, PMID:7851896, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1418995 ; oboInOwl:hasExactSynonym "PSG3", "pregnancy-specific beta-1-glycoprotein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5671 ; - skos:exactMatch HGNC_symbol:PSG3 ; + skos:exactMatch UMLS:C1418995, + HGNC:9520, + HGNC_symbol:PSG3 ; biolink:category biolink:Gene . OMIM:176393 a owl:Class ; @@ -61687,12 +63195,13 @@ OMIM:176393 a owl:Class ; PMID:7851895, PMID:7851896, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1418996 ; oboInOwl:hasExactSynonym "PSG4", "pregnancy-specific beta-1-glycoprotein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5672 ; - skos:exactMatch HGNC_symbol:PSG4 ; + skos:exactMatch UMLS:C1418996, + HGNC:9521, + HGNC_symbol:PSG4 ; biolink:category biolink:Gene . OMIM:176394 a owl:Class ; @@ -61705,12 +63214,13 @@ OMIM:176394 a owl:Class ; PMID:7851895, PMID:7851896, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1418997 ; oboInOwl:hasExactSynonym "PSG5", "pregnancy-specific beta-1-glycoprotein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5673 ; - skos:exactMatch HGNC_symbol:PSG5 ; + skos:exactMatch UMLS:C1418997, + HGNC:9522, + HGNC_symbol:PSG5 ; biolink:category biolink:Gene . OMIM:176395 a owl:Class ; @@ -61723,12 +63233,13 @@ OMIM:176395 a owl:Class ; PMID:7851895, PMID:7851896, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1418998 ; oboInOwl:hasExactSynonym "PSG6", "pregnancy-specific beta-1-glycoprotein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5675 ; - skos:exactMatch HGNC_symbol:PSG6 ; + skos:exactMatch UMLS:C1418998, + HGNC:9523, + HGNC_symbol:PSG6 ; biolink:category biolink:Gene . OMIM:176396 a owl:Class ; @@ -61741,12 +63252,13 @@ OMIM:176396 a owl:Class ; PMID:7851895, PMID:7851896, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1418999 ; oboInOwl:hasExactSynonym "PSG7", "pregnancy-specific beta-1-glycoprotein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5676 ; - skos:exactMatch HGNC_symbol:PSG7 ; + skos:exactMatch UMLS:C1418999, + HGNC:9524, + HGNC_symbol:PSG7 ; biolink:category biolink:Gene . OMIM:176397 a owl:Class ; @@ -61759,12 +63271,13 @@ OMIM:176397 a owl:Class ; PMID:7851895, PMID:7851896, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1419000 ; oboInOwl:hasExactSynonym "PSG8", "pregnancy-specific beta-1-glycoprotein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440533 ; - skos:exactMatch HGNC_symbol:PSG8 ; + skos:exactMatch UMLS:C1419000, + HGNC:9525, + HGNC_symbol:PSG8 ; biolink:category biolink:Gene . OMIM:176398 a owl:Class ; @@ -61777,13 +63290,14 @@ OMIM:176398 a owl:Class ; PMID:7851895, PMID:7851896, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1419001 ; oboInOwl:hasExactSynonym "PSG9", "pregnancy-specific beta-1-glycoprotein 11, formerly", "pregnancy-specific beta-1-glycoprotein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5678 ; - skos:exactMatch HGNC_symbol:PSG9 ; + skos:exactMatch UMLS:C1419001, + HGNC:9526, + HGNC_symbol:PSG9 ; biolink:category biolink:Gene . OMIM:176399 a owl:Class ; @@ -61797,14 +63311,15 @@ OMIM:176399 a owl:Class ; PMID:7851895, PMID:7851896, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1418992 ; oboInOwl:hasExactSynonym "PSG10P", "pregnancy-specific beta-1-glycoprotein 10, pseudogene", "pregnancy-specific beta-1-glycoprotein 12, formerly", "psg10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653492 ; - skos:exactMatch HGNC_symbol:PSG10P ; + skos:exactMatch UMLS:C1418992, + HGNC:9515, + HGNC_symbol:PSG10P ; biolink:category biolink:Gene . OMIM:176400 a owl:Class ; @@ -61823,10 +63338,10 @@ OMIM:176400 a owl:Class ; PMID:26431553, PMID:28672280, PMID:8423588 ; - oboInOwl:hasDbXref UMLS:C3805879 ; oboInOwl:hasExactSynonym "CPPB1", "precocious puberty, central, 1" ; rdfs:subClassOf OMIMPS:176400 ; + skos:exactMatch UMLS:C3805879 ; biolink:category biolink:Disease . OMIM:176401 a owl:Class ; @@ -61839,27 +63354,29 @@ OMIM:176401 a owl:Class ; PMID:7851895, PMID:7851896, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C1418993 ; oboInOwl:hasExactSynonym "PSG11", "pregnancy-specific beta-1-glycoprotein 11", "pregnancy-specific beta-1-glycoprotein 13, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5680 ; - skos:exactMatch HGNC_symbol:PSG11 ; + skos:exactMatch UMLS:C1418993, + HGNC:9516, + HGNC_symbol:PSG11 ; biolink:category biolink:Gene . OMIM:176420 a owl:Class ; rdfs:label "PZP" ; IAO:0000142 PMID:13832188, PMID:6209714 ; - oboInOwl:hasDbXref UMLS:C1419180 ; oboInOwl:hasExactSynonym "PZP", "c3- and pzp-like alpha-2-macroglobulin domain-containing protein 6", "complement component 3- and pregnancy zone protein-like alpha-2-macroglobulin domain-containing protein 6", "pregnancy zone protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5858 ; - skos:exactMatch HGNC_symbol:PZP ; + skos:exactMatch UMLS:C1419180, + HGNC:9750, + HGNC_symbol:PZP ; biolink:category biolink:Gene . OMIM:176440 a owl:Class ; @@ -61872,11 +63389,11 @@ OMIM:176500 a owl:Class ; PMID:12388551, PMID:2364266, PMID:7086452 ; - oboInOwl:hasDbXref UMLS:C1867773 ; oboInOwl:hasExactSynonym "cerebral amyloid angiopathy, british iia", "cerebral amyloid angiopathy, itm2b-related, 1", "dementia, familial british", "presenile dementia with spastic ataxia" ; + skos:exactMatch UMLS:C1867773 ; biolink:category biolink:Disease . OMIM:176590 a owl:Class ; @@ -61885,19 +63402,20 @@ OMIM:176590 a owl:Class ; PMID:7758455, PMID:8641130, PMID:8975700 ; - oboInOwl:hasDbXref UMLS:C1418495 ; oboInOwl:hasExactSynonym "PFN2", "profilin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5217 ; - skos:exactMatch HGNC_symbol:PFN2 ; + skos:exactMatch UMLS:C1418495, + HGNC:8882, + HGNC_symbol:PFN2 ; biolink:category biolink:Gene . OMIM:176600 a owl:Class ; rdfs:label "presenile dementia, kraepelin iia" ; IAO:0000142 PMID:5709832 ; - oboInOwl:hasDbXref UMLS:C1867772 ; - oboInOwl:hasExactSynonym "presenile dementia, kraepelin iia" . + oboInOwl:hasExactSynonym "presenile dementia, kraepelin iia" ; + skos:exactMatch UMLS:C1867772 . OMIM:176610 a owl:Class ; rdfs:label "PFN1" ; @@ -61914,26 +63432,27 @@ OMIM:176610 a owl:Class ; PMID:9196007 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:614808 ; - oboInOwl:hasDbXref UMLS:C1456390 ; oboInOwl:hasExactSynonym "PFN1", "profilin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5216 ; - skos:exactMatch HGNC_symbol:PFN1 ; + skos:exactMatch UMLS:C1456390, + HGNC:8881, + HGNC_symbol:PFN1 ; biolink:category biolink:Gene . OMIM:176620 a owl:Class ; rdfs:label "priapism, familial idiopathic" ; IAO:0000142 PMID:6700001 ; - oboInOwl:hasDbXref UMLS:C1867771 ; - oboInOwl:hasExactSynonym "priapism, familial idiopathic" . + oboInOwl:hasExactSynonym "priapism, familial idiopathic" ; + skos:exactMatch UMLS:C1867771 . OMIM:176630 a owl:Class ; rdfs:label "primary release disorder of platelets" ; IAO:0000142 PMID:6106096, PMID:7470394 ; - oboInOwl:hasDbXref UMLS:C1867770 ; - oboInOwl:hasExactSynonym "primary release disorder of platelets" . + oboInOwl:hasExactSynonym "primary release disorder of platelets" ; + skos:exactMatch UMLS:C1867770 . OMIM:176635 a owl:Class ; rdfs:label "PRIM1" ; @@ -61942,14 +63461,15 @@ OMIM:176635 a owl:Class ; PMID:8026492, PMID:8530050, PMID:9268648 ; - oboInOwl:hasDbXref UMLS:C1335259 ; oboInOwl:hasExactSynonym "PRIM1", "primase polypeptide 1", "primase, p48 subunit", "primase, p49 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5557 ; - skos:exactMatch HGNC_symbol:PRIM1 ; + skos:exactMatch UMLS:C1335259, + HGNC:9369, + HGNC_symbol:PRIM1 ; biolink:category biolink:Gene . OMIM:176640 a owl:Class ; @@ -62227,7 +63747,13 @@ OMIM:176640 a owl:Class ; PMID:9883727 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:245300 ; - oboInOwl:hasDbXref UMLS:C0017495, + oboInOwl:hasExactSynonym "PRNP", + "prion protein", + "prion-related protein", + "prp" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:5621 ; + skos:exactMatch UMLS:C0017495, UMLS:C0022336, UMLS:C0206042, UMLS:C1418941, @@ -62238,14 +63764,9 @@ OMIM:176640 a owl:Class ; UMLS:C3805618, UMLS:C4015968, UMLS:C4016337, - UMLS:C4016338 ; - oboInOwl:hasExactSynonym "PRNP", - "prion protein", - "prion-related protein", - "prp" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:5621 ; - skos:exactMatch HGNC_symbol:PRNP ; + UMLS:C4016338, + HGNC:9449, + HGNC_symbol:PRNP ; biolink:category biolink:Gene . OMIM:176670 a owl:Class ; @@ -62305,13 +63826,13 @@ OMIM:176670 a owl:Class ; PMID:6930821, PMID:6988117, PMID:7026617 ; - oboInOwl:hasDbXref UMLS:C0033300, - UMLS:C2750285 ; oboInOwl:hasExactSynonym "HGPS", "hutchinson-gilford progeria syndrome", "progeria", "progeria syndrome, childhood-onset" ; rdfs:subClassOf OMIMPS:176670 ; + skos:exactMatch UMLS:C0033300, + UMLS:C2750285 ; biolink:category biolink:Disease . OMIM:176680 a owl:Class ; @@ -62329,9 +63850,9 @@ OMIM:176690 a owl:Class ; PMID:7815440, PMID:8456831, PMID:9066884 ; - oboInOwl:hasDbXref UMLS:C1261128 ; oboInOwl:hasExactSynonym "mulvihill-smith syndrome", "progeroid short stature with pigmented nevi" ; + skos:exactMatch UMLS:C1261128 ; biolink:category biolink:Disease . OMIM:176700 a owl:Class ; @@ -62343,10 +63864,10 @@ OMIM:176700 a owl:Class ; PMID:4881391, PMID:8445614, PMID:9831338 ; - oboInOwl:hasDbXref UMLS:C0399526 ; oboInOwl:hasExactSynonym "'habsburg jaw'", "'hapsburg jaw'", "prognathism, mandibular" ; + skos:exactMatch UMLS:C0399526 ; biolink:category biolink:Disease . OMIM:176705 a owl:Class ; @@ -62363,12 +63884,14 @@ OMIM:176705 a owl:Class ; PMID:8809404 ; RO:0002525 CHR:9606chr17q21.33 ; RO:0003303 OMIM:114480 ; - oboInOwl:hasDbXref UMLS:C1335208 ; oboInOwl:hasExactSynonym "PHB", "phb1", "prohibitin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5245 ; + skos:exactMatch UMLS:C1335208, + HGNC:8912, + HGNC_symbol:PHB1 ; biolink:category biolink:Gene . OMIM:176710 a owl:Class ; @@ -62383,14 +63906,15 @@ OMIM:176710 a owl:Class ; PMID:7753822, PMID:7961714, PMID:9211872 ; - oboInOwl:hasDbXref UMLS:C1418222 ; oboInOwl:hasExactSynonym "P4HA1", "procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 1", "prolyl 4-hydroxylase, alpha subunit", "prolyl 4-hydroxylase, alpha-1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5033 ; - skos:exactMatch HGNC_symbol:P4HA1 ; + skos:exactMatch UMLS:C1418222, + HGNC:8546, + HGNC_symbol:P4HA1 ; biolink:category biolink:Gene . OMIM:176720 a owl:Class ; @@ -62399,14 +63923,15 @@ OMIM:176720 a owl:Class ; PMID:1683210, PMID:1955075, PMID:2727805 ; - oboInOwl:hasDbXref UMLS:C1418587 ; oboInOwl:hasExactSynonym "PIP", "gcdfp-15", "gross cystic disease fluid protein", "prolactin-inducible protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5304 ; - skos:exactMatch HGNC_symbol:PIP ; + skos:exactMatch UMLS:C1418587, + HGNC:8993, + HGNC_symbol:PIP ; biolink:category biolink:Gene . OMIM:176740 a owl:Class ; @@ -62433,13 +63958,14 @@ OMIM:176740 a owl:Class ; PMID:8995762 ; RO:0002525 CHR:9606chr20p12.3 ; RO:0003303 OMIM:615919 ; - oboInOwl:hasDbXref UMLS:C1366837 ; oboInOwl:hasExactSynonym "DNA polymerase delta auxiliary protein", "PCNA", "proliferating cell nuclear antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5111 ; - skos:exactMatch HGNC_symbol:PCNA ; + skos:exactMatch UMLS:C1366837, + HGNC:8729, + HGNC_symbol:PCNA ; biolink:category biolink:Gene . OMIM:176741 a owl:Class ; @@ -62452,7 +63978,6 @@ OMIM:176741 a owl:Class ; PMID:32879492, PMID:8227122, PMID:9925911 ; - oboInOwl:hasDbXref UMLS:C1334508 ; oboInOwl:hasExactSynonym "MKI67", "antigen identified by monoclonal antibody ki-67", "marker of proliferation ki67", @@ -62460,7 +63985,9 @@ OMIM:176741 a owl:Class ; "proliferation-related ki-67 antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4288 ; - skos:exactMatch HGNC_symbol:MKI67 ; + skos:exactMatch UMLS:C1334508, + HGNC:7107, + HGNC_symbol:MKI67 ; biolink:category biolink:Gene . OMIM:176760 a owl:Class ; @@ -62483,12 +64010,13 @@ OMIM:176760 a owl:Class ; PMID:8015553, PMID:925136, PMID:9280069 ; - oboInOwl:hasDbXref UMLS:C1418938 ; oboInOwl:hasExactSynonym "PRL", "prolactin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5617 ; - skos:exactMatch HGNC_symbol:PRL ; + skos:exactMatch UMLS:C1418938, + HGNC:9445, + HGNC_symbol:PRL ; biolink:category biolink:Gene . OMIM:176761 a owl:Class ; @@ -62511,12 +64039,13 @@ OMIM:176761 a owl:Class ; PMID:9212050 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:615554 ; - oboInOwl:hasDbXref UMLS:C1335265 ; oboInOwl:hasExactSynonym "PRLR", "prolactin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5618 ; - skos:exactMatch HGNC_symbol:PRLR ; + skos:exactMatch UMLS:C1335265, + HGNC:9446, + HGNC_symbol:PRLR ; biolink:category biolink:Gene . OMIM:176763 a owl:Class ; @@ -62530,7 +64059,6 @@ OMIM:176763 a owl:Class ; PMID:8496166 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:277400 ; - oboInOwl:hasDbXref UMLS:C1418879 ; oboInOwl:hasExactSynonym "PRDX1", "natural killer-enhancing factor a", "peroxiredoxin 1", @@ -62538,21 +64066,24 @@ OMIM:176763 a owl:Class ; "prxi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5052 ; - skos:exactMatch HGNC_symbol:PRDX1 ; + skos:exactMatch UMLS:C1418879, + HGNC:9352, + HGNC_symbol:PRDX1 ; biolink:category biolink:Gene . OMIM:176785 a owl:Class ; rdfs:label "PRCP" ; IAO:0000142 PMID:8344943, PMID:9325062 ; - oboInOwl:hasDbXref UMLS:C1418873 ; oboInOwl:hasExactSynonym "PRCP", "angiotensinase c", "pcp", "prolylcarboxypeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5547 ; - skos:exactMatch HGNC_symbol:PRCP ; + skos:exactMatch UMLS:C1418873, + HGNC:9344, + HGNC_symbol:PRCP ; biolink:category biolink:Gene . OMIM:176790 a owl:Class ; @@ -62575,7 +64106,6 @@ OMIM:176790 a owl:Class ; PMID:8361539 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:112240 ; - oboInOwl:hasDbXref UMLS:C1418224 ; oboInOwl:hasExactSynonym "P4HB", "disulfide isomerase", "glutathione-insulin transhydrogenase", @@ -62587,30 +64117,34 @@ OMIM:176790 a owl:Class ; "thyroid hormone-binding protein p55, cellular" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5034 ; - skos:exactMatch HGNC_symbol:P4HB ; + skos:exactMatch UMLS:C1418224, + HGNC:8548, + HGNC_symbol:P4HB ; biolink:category biolink:Gene . OMIM:176793 a owl:Class ; rdfs:label "PMCHL1" ; IAO:0000142 PMID:8188237, PMID:9729295 ; - oboInOwl:hasDbXref UMLS:C1418670 ; oboInOwl:hasExactSynonym "PMCHL1", "pro-melanin-concentrating hormone-like 1, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5369 ; - skos:exactMatch HGNC_symbol:PMCHL1 ; + skos:exactMatch UMLS:C1418670, + HGNC:9110, + HGNC_symbol:PMCHL1 ; biolink:category biolink:Gene . OMIM:176794 a owl:Class ; rdfs:label "PMCHL2" ; IAO:0000142 PMID:8188237 ; - oboInOwl:hasDbXref UMLS:C1418671 ; oboInOwl:hasExactSynonym "PMCHL2", "pro-melanin-concentrating hormone-like 2, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5370 ; - skos:exactMatch HGNC_symbol:PMCHL2 ; + skos:exactMatch UMLS:C1418671, + HGNC:9111, + HGNC_symbol:PMCHL2 ; biolink:category biolink:Gene . OMIM:176795 a owl:Class ; @@ -62622,13 +64156,14 @@ OMIM:176795 a owl:Class ; PMID:8637571, PMID:9729295, PMID:9872314 ; - oboInOwl:hasDbXref UMLS:C1418669 ; oboInOwl:hasExactSynonym "PMCH", "melanin-concentrating hormone", "pro-melanin-concentrating hormone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5367 ; - skos:exactMatch HGNC_symbol:PMCH ; + skos:exactMatch UMLS:C1418669, + HGNC:9109, + HGNC_symbol:PMCH ; biolink:category biolink:Gene . OMIM:176797 a owl:Class ; @@ -62664,8 +64199,6 @@ OMIM:176797 a owl:Class ; PMID:9486655, PMID:9770450 ; RO:0002525 CHR:9606chr11q23.2 ; - oboInOwl:hasDbXref UMLS:C1538149, - UMLS:C1867727 ; oboInOwl:hasExactSynonym "ZBTB16", "plzf/rara fusion gene", "promyelocytic leukemia zinc finger", @@ -62673,14 +64206,17 @@ OMIM:176797 a owl:Class ; "zinc finger- and btb domain-containing protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7704 ; - skos:exactMatch HGNC_symbol:ZBTB16 ; + skos:exactMatch UMLS:C1538149, + UMLS:C1867727, + HGNC:12930, + HGNC_symbol:ZBTB16 ; biolink:category biolink:Gene . OMIM:176800 a owl:Class ; rdfs:label "pronation-supination of the forearm, impairment of" ; IAO:0000142 PMID:5653868 ; - oboInOwl:hasDbXref UMLS:C1867726 ; - oboInOwl:hasExactSynonym "pronation-supination of the forearm, impairment of" . + oboInOwl:hasExactSynonym "pronation-supination of the forearm, impairment of" ; + skos:exactMatch UMLS:C1867726 . OMIM:176801 a owl:Class ; rdfs:label "PSAP" ; @@ -62741,8 +64277,6 @@ OMIM:176801 a owl:Class ; PMID:9556662 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:619491 ; - oboInOwl:hasDbXref UMLS:C1418975, - UMLS:C1867717 ; oboInOwl:hasExactSynonym "PSAP", "prosaposin", "saposin B", @@ -62753,7 +64287,10 @@ OMIM:176801 a owl:Class ; "sphingolipid activator protein 2, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5660 ; - skos:exactMatch HGNC_symbol:PSAP ; + skos:exactMatch UMLS:C1418975, + UMLS:C1867717, + HGNC:9498, + HGNC_symbol:PSAP ; biolink:category biolink:Gene . OMIM:176802 a owl:Class ; @@ -62765,12 +64302,13 @@ OMIM:176802 a owl:Class ; PMID:7759114, PMID:7938166, PMID:8253813 ; - oboInOwl:hasDbXref UMLS:C1419061 ; oboInOwl:hasExactSynonym "PTGER1", "prostaglandin e receptor 1, ep1 subtype" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5731 ; - skos:exactMatch HGNC_symbol:PTGER1 ; + skos:exactMatch UMLS:C1419061, + HGNC:9593, + HGNC_symbol:PTGER1 ; biolink:category biolink:Gene . OMIM:176803 a owl:Class ; @@ -62789,7 +64327,6 @@ OMIM:176803 a owl:Class ; PMID:7774911, PMID:7829063, PMID:9188476 ; - oboInOwl:hasDbXref UMLS:C1419060 ; oboInOwl:hasExactSynonym "PTGDS", "beta-trace", "lipocalin-type prostaglandin d synthase", @@ -62798,7 +64335,9 @@ OMIM:176803 a owl:Class ; "prostaglandin d2 synthase, brain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5730 ; - skos:exactMatch HGNC_symbol:PTGDS ; + skos:exactMatch UMLS:C1419060, + HGNC:9592, + HGNC_symbol:PTGDS ; biolink:category biolink:Gene . OMIM:176804 a owl:Class ; @@ -62815,12 +64354,13 @@ OMIM:176804 a owl:Class ; PMID:7938166 ; RO:0002525 CHR:9606chr14q22.1 ; RO:0003303 OMIM:208550 ; - oboInOwl:hasDbXref UMLS:C1419062 ; oboInOwl:hasExactSynonym "PTGER2", "prostaglandin e receptor 2, ep2 subtype" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5732 ; - skos:exactMatch HGNC_symbol:PTGER2 ; + skos:exactMatch UMLS:C1419062, + HGNC:9594, + HGNC_symbol:PTGER2 ; biolink:category biolink:Gene . OMIM:176805 a owl:Class ; @@ -62840,8 +64380,6 @@ OMIM:176805 a owl:Class ; PMID:8121489, PMID:8521478, PMID:9630216 ; - oboInOwl:hasDbXref UMLS:C1144025, - UMLS:C1335271 ; oboInOwl:hasExactSynonym "PTGS1", "cyclooxygenase 1", "cyclooxygenase 3", @@ -62850,7 +64388,10 @@ OMIM:176805 a owl:Class ; "prostaglandin-endoperoxide synthase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5742 ; - skos:exactMatch HGNC_symbol:PTGS1 ; + skos:exactMatch UMLS:C1144025, + UMLS:C1335271, + HGNC:9604, + HGNC_symbol:PTGS1 ; biolink:category biolink:Gene . OMIM:176806 a owl:Class ; @@ -62868,12 +64409,13 @@ OMIM:176806 a owl:Class ; PMID:8307176, PMID:9073510, PMID:9751056 ; - oboInOwl:hasDbXref UMLS:C1419063 ; oboInOwl:hasExactSynonym "PTGER3", "prostaglandin e receptor 3, ep3 subtype" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5733 ; - skos:exactMatch HGNC_symbol:PTGER3 ; + skos:exactMatch UMLS:C1419063, + HGNC:9595, + HGNC_symbol:PTGER3 ; biolink:category biolink:Gene . OMIM:176820 a owl:Class ; @@ -62893,7 +64435,6 @@ OMIM:176820 a owl:Class ; PMID:8626436, PMID:9013762, PMID:9062481 ; - oboInOwl:hasDbXref UMLS:C1366489 ; oboInOwl:hasExactSynonym "KLK3", "antigen, prostate-specific", "kallikrein 3", @@ -62901,7 +64442,9 @@ OMIM:176820 a owl:Class ; "prostate-specific antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:354 ; - skos:exactMatch HGNC_symbol:KLK3 ; + skos:exactMatch UMLS:C1366489, + HGNC:6364, + HGNC_symbol:KLK3 ; biolink:category biolink:Gene . OMIM:176830 a owl:Class ; @@ -62953,7 +64496,6 @@ OMIM:176830 a owl:Class ; PMID:9768693 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:601665 ; - oboInOwl:hasDbXref UMLS:C1337111 ; oboInOwl:hasExactSynonym "POMC", "lipotropin", "melanocyte-stimulating hormone", @@ -62963,7 +64505,9 @@ OMIM:176830 a owl:Class ; "proopiomelanocortin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5443 ; - skos:exactMatch HGNC_symbol:POMC ; + skos:exactMatch UMLS:C1337111, + HGNC:9201, + HGNC_symbol:POMC ; biolink:category biolink:Gene . OMIM:176842 a owl:Class ; @@ -62971,14 +64515,15 @@ OMIM:176842 a owl:Class ; IAO:0000142 PMID:2025653, PMID:7558012, PMID:7966316 ; - oboInOwl:hasDbXref UMLS:C1419004 ; oboInOwl:hasExactSynonym "PSMA2", "hc3", "proteasome subunit, alpha-type, 2", "psc2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5683 ; - skos:exactMatch HGNC_symbol:PSMA2 ; + skos:exactMatch UMLS:C1419004, + HGNC:9531, + HGNC_symbol:PSMA2 ; biolink:category biolink:Gene . OMIM:176843 a owl:Class ; @@ -62986,14 +64531,15 @@ OMIM:176843 a owl:Class ; IAO:0000142 PMID:21953331, PMID:26524591, PMID:7857283 ; - oboInOwl:hasDbXref UMLS:C1419005 ; oboInOwl:hasExactSynonym "PSMA3", "hc8", "proteasome subunit, alpha-type, 3", "psc3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5684 ; - skos:exactMatch HGNC_symbol:PSMA3 ; + skos:exactMatch UMLS:C1419005, + HGNC:9532, + HGNC_symbol:PSMA3 ; biolink:category biolink:Gene . OMIM:176844 a owl:Class ; @@ -63001,22 +64547,23 @@ OMIM:176844 a owl:Class ; IAO:0000142 PMID:1888762, PMID:8811196, PMID:9530635 ; - oboInOwl:hasDbXref UMLS:C1419007 ; oboInOwl:hasExactSynonym "PSMA5", "proteasome component 5", "proteasome subunit zeta", "proteasome subunit, alpha-type, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5686 ; - skos:exactMatch HGNC_symbol:PSMA5 ; + skos:exactMatch UMLS:C1419007, + HGNC:9534, + HGNC_symbol:PSMA5 ; biolink:category biolink:Gene . OMIM:176845 a owl:Class ; rdfs:label "PSC8" ; - oboInOwl:hasDbXref UMLS:C1867707 ; oboInOwl:hasExactSynonym "PSC8", "proteasome component 8" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1867707 ; biolink:category biolink:Gene . OMIM:176847 a owl:Class ; @@ -63029,7 +64576,6 @@ OMIM:176847 a owl:Class ; PMID:9367687 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:619175 ; - oboInOwl:hasDbXref UMLS:C1419011 ; oboInOwl:hasExactSynonym "PSMB10", "low molecular mass protein 10", "proteasome 20s subunit, beta-type, 10", @@ -63037,7 +64583,9 @@ OMIM:176847 a owl:Class ; "proteasome subunit mecl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5699 ; - skos:exactMatch HGNC_symbol:PSMB10 ; + skos:exactMatch UMLS:C1419011, + HGNC:9538, + HGNC_symbol:PSMB10 ; biolink:category biolink:Gene . OMIM:176851 a owl:Class ; @@ -63050,13 +64598,14 @@ OMIM:176851 a owl:Class ; PMID:1478665, PMID:1998518, PMID:3355545 ; - oboInOwl:hasDbXref UMLS:C1442741 ; oboInOwl:hasExactSynonym "PCMT1", "l-isoaspartyl/d-aspartyl protein methyltransferase", "protein carboxyl methyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5110 ; - skos:exactMatch HGNC_symbol:PCMT1 ; + skos:exactMatch UMLS:C1442741, + HGNC:8728, + HGNC_symbol:PCMT1 ; biolink:category biolink:Gene . OMIM:176860 a owl:Class ; @@ -63093,14 +64642,14 @@ OMIM:176860 a owl:Class ; PMID:8446940, PMID:8594568, PMID:9577282 ; - oboInOwl:hasDbXref UMLS:C2674321, - UMLS:C2674322 ; oboInOwl:hasExactSynonym "THPH3", "proc deficiency, autosomal dominant", "protein c deficiency, acquired", "protein c deficiency, autosomal dominant", "thrombophilia due to protein c deficiency, autosomal dominant" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C2674321, + UMLS:C2674322 ; biolink:category biolink:Disease . OMIM:176870 a owl:Class ; @@ -63117,8 +64666,6 @@ OMIM:176870 a owl:Class ; PMID:2472935, PMID:2580349, PMID:3463 ; - oboInOwl:hasDbXref UMLS:C0077906, - UMLS:C1412376 ; oboInOwl:hasExactSynonym "AMBP", "alpha-1 microglobulin", "alpha-1 microglobulin/bikunin precursor", @@ -63129,7 +64676,10 @@ OMIM:176870 a owl:Class ; "urinary trypsin inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259 ; - skos:exactMatch HGNC_symbol:AMBP ; + skos:exactMatch UMLS:C0077906, + UMLS:C1412376, + HGNC:453, + HGNC_symbol:AMBP ; biolink:category biolink:Gene . OMIM:176871 a owl:Class ; @@ -63156,8 +64706,6 @@ OMIM:176871 a owl:Class ; PMID:9447982 ; RO:0002525 CHR:9606chr2p22.2 ; RO:0003303 OMIM:618877 ; - oboInOwl:hasDbXref UMLS:C1539341, - UMLS:C5394367 ; oboInOwl:hasExactSynonym "EIF2AK2", "eukaryotic translation initiation factor 2-alpha kinase 2", "p68 kinase", @@ -63165,7 +64713,10 @@ OMIM:176871 a owl:Class ; "protein kinase, interferon-inducible double-stranded rna-activated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5610 ; - skos:exactMatch HGNC_symbol:EIF2AK2 ; + skos:exactMatch UMLS:C1539341, + UMLS:C5394367, + HGNC:9437, + HGNC_symbol:EIF2AK2 ; biolink:category biolink:Gene . OMIM:176872 a owl:Class ; @@ -63197,9 +64748,6 @@ OMIM:176872 a owl:Class ; PMID:9660836 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:155950 ; - oboInOwl:hasDbXref UMLS:C1334474, - UMLS:C3809006, - UMLS:C5394559 ; oboInOwl:hasExactSynonym "MAP2K1", "mapk/erk kinase 1", "mitogen-activated protein kinase kinase 1", @@ -63207,7 +64755,11 @@ OMIM:176872 a owl:Class ; "protein kinase, mitogen-activated, kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5604 ; - skos:exactMatch HGNC_symbol:MAP2K1 ; + skos:exactMatch UMLS:C1334474, + UMLS:C3809006, + UMLS:C5394559, + HGNC:6840, + HGNC_symbol:MAP2K1 ; biolink:category biolink:Gene . OMIM:176873 a owl:Class ; @@ -63221,7 +64773,6 @@ OMIM:176873 a owl:Class ; PMID:7920654, PMID:8195233, PMID:9750192 ; - oboInOwl:hasDbXref UMLS:C1332720 ; oboInOwl:hasExactSynonym "CDK11B", "cdc-related protein kinase p58", "cdk11", @@ -63231,7 +64782,9 @@ OMIM:176873 a owl:Class ; "protein kinase p58" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:984 ; - skos:exactMatch HGNC_symbol:CDK11B ; + skos:exactMatch UMLS:C1332720, + HGNC:1729, + HGNC_symbol:CDK11B ; biolink:category biolink:Gene . OMIM:176874 a owl:Class ; @@ -63253,13 +64806,14 @@ OMIM:176875 a owl:Class ; PMID:26168397, PMID:7736790, PMID:8392016 ; - oboInOwl:hasDbXref UMLS:C1335240 ; oboInOwl:hasExactSynonym "PPP1CA", "protein phosphatase 1, alpha subunit", "protein phosphatase 1, catalytic subunit, alpha isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5499 ; - skos:exactMatch HGNC_symbol:PPP1CA ; + skos:exactMatch UMLS:C1335240, + HGNC:9281, + HGNC_symbol:PPP1CA ; biolink:category biolink:Gene . OMIM:176876 a owl:Class ; @@ -63328,19 +64882,20 @@ OMIM:176876 a owl:Class ; PMID:9792637 ; RO:0002525 CHR:9606chr12q24.13 ; RO:0003303 OMIM:163950 ; - oboInOwl:hasDbXref UMLS:C0028326, - UMLS:C0410530, - UMLS:C1335280, - UMLS:C4016288, - UMLS:C4551484, - UMLS:C4551602 ; oboInOwl:hasExactSynonym "PTPN11", "protein-tyrosine phosphatase 2c", "protein-tyrosine phosphatase, nonreceptor-type, 11", "tyrosine phosphatase shp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5781 ; - skos:exactMatch HGNC_symbol:PTPN11 ; + skos:exactMatch UMLS:C0028326, + UMLS:C0410530, + UMLS:C1335280, + UMLS:C4016288, + UMLS:C4551484, + UMLS:C4551602, + HGNC:9644, + HGNC_symbol:PTPN11 ; biolink:category biolink:Gene . OMIM:176877 a owl:Class ; @@ -63349,26 +64904,28 @@ OMIM:176877 a owl:Class ; PMID:15155950, PMID:1648725, PMID:8253532 ; - oboInOwl:hasDbXref UMLS:C1419105 ; oboInOwl:hasExactSynonym "PTPN3", "protein-tyrosine phosphatase, nonreceptor-type, 3", "ptph1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5774 ; - skos:exactMatch HGNC_symbol:PTPN3 ; + skos:exactMatch UMLS:C1419105, + HGNC:9655, + HGNC_symbol:PTPN3 ; biolink:category biolink:Gene . OMIM:176878 a owl:Class ; rdfs:label "PTPN4" ; IAO:0000142 PMID:1648233 ; - oboInOwl:hasDbXref UMLS:C1419106 ; oboInOwl:hasExactSynonym "PTPN4", "megakaryocyte phosphatase", "protein-tyrosine phosphatase, megakaryocyte", "protein-tyrosine phosphatase, nonreceptor-type, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5775 ; - skos:exactMatch HGNC_symbol:PTPN4 ; + skos:exactMatch UMLS:C1419106, + HGNC:9656, + HGNC_symbol:PTPN4 ; biolink:category biolink:Gene . OMIM:176879 a owl:Class ; @@ -63379,13 +64936,14 @@ OMIM:176879 a owl:Class ; PMID:31135041, PMID:7490079, PMID:7494467 ; - oboInOwl:hasDbXref UMLS:C1419107 ; oboInOwl:hasExactSynonym "PTPN5", "protein-tyrosine phosphatase, nonreceptor-type, 5", "ptpn, striatum-enriched" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84867 ; - skos:exactMatch HGNC_symbol:PTPN5 ; + skos:exactMatch UMLS:C1419107, + HGNC:9657, + HGNC_symbol:PTPN5 ; biolink:category biolink:Gene . OMIM:176882 a owl:Class ; @@ -63394,13 +64952,14 @@ OMIM:176882 a owl:Class ; PMID:17360632, PMID:2169617, PMID:2170109 ; - oboInOwl:hasDbXref UMLS:C1419112 ; oboInOwl:hasExactSynonym "PTPRB", "protein-tyrosine phosphatase, receptor-type, beta", "vascular endothelial protein-tyrosine phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5787 ; - skos:exactMatch HGNC_symbol:PTPRB ; + skos:exactMatch UMLS:C1419112, + HGNC:9665, + HGNC_symbol:PTPRB ; biolink:category biolink:Gene . OMIM:176883 a owl:Class ; @@ -63423,7 +64982,6 @@ OMIM:176883 a owl:Class ; PMID:7665165, PMID:8324828, PMID:8348149 ; - oboInOwl:hasDbXref UMLS:C1335283 ; oboInOwl:hasExactSynonym "PTPN6", "hematopoietic cell phosphatase", "protein-tyrosine phosphatase 1c", @@ -63431,7 +64989,9 @@ OMIM:176883 a owl:Class ; "tyrosine phosphatase shp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5777 ; - skos:exactMatch HGNC_symbol:PTPN6 ; + skos:exactMatch UMLS:C1335283, + HGNC:9658, + HGNC_symbol:PTPN6 ; biolink:category biolink:Gene . OMIM:176884 a owl:Class ; @@ -63443,7 +65003,6 @@ OMIM:176884 a owl:Class ; PMID:2169617, PMID:2170109, PMID:2172030 ; - oboInOwl:hasDbXref UMLS:C1419111 ; oboInOwl:hasExactSynonym "PTPRA", "lca-related phosphatase", "protein-tyrosine phosphatase, receptor-type, alpha", @@ -63451,7 +65010,9 @@ OMIM:176884 a owl:Class ; "rptpase-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5786 ; - skos:exactMatch HGNC_symbol:PTPRA ; + skos:exactMatch UMLS:C1419111, + HGNC:9664, + HGNC_symbol:PTPRA ; biolink:category biolink:Gene . OMIM:176885 a owl:Class ; @@ -63486,14 +65047,15 @@ OMIM:176885 a owl:Class ; PMID:9218523 ; RO:0002525 CHR:9606chr20q13.13 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1335281 ; oboInOwl:hasExactSynonym "PTPN1", "protein phosphotyrosylphosphatase 1b", "protein-tyrosine phosphatase, nonreceptor-type, 1", "protein-tyrosine phosphatase, placental" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5770 ; - skos:exactMatch HGNC_symbol:PTPN1 ; + skos:exactMatch UMLS:C1335281, + HGNC:9642, + HGNC_symbol:PTPN1 ; biolink:category biolink:Gene . OMIM:176886 a owl:Class ; @@ -63505,13 +65067,14 @@ OMIM:176886 a owl:Class ; PMID:7683956, PMID:8382771, PMID:8833149 ; - oboInOwl:hasDbXref UMLS:C1335287 ; oboInOwl:hasExactSynonym "PTPRG", "protein-tyrosine phosphatase gamma", "protein-tyrosine phosphatase, receptor-type, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5793 ; - skos:exactMatch HGNC_symbol:PTPRG ; + skos:exactMatch UMLS:C1335287, + HGNC:9671, + HGNC_symbol:PTPRG ; biolink:category biolink:Gene . OMIM:176887 a owl:Class ; @@ -63524,13 +65087,14 @@ OMIM:176887 a owl:Class ; PMID:26026268, PMID:8325634, PMID:9271584 ; - oboInOwl:hasDbXref UMLS:C1419100 ; oboInOwl:hasExactSynonym "PTPN2", "protein-tyrosine phosphatase, nonreceptor-type, 2", "protein-tyrosine phosphatase, t-cell" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5771 ; - skos:exactMatch HGNC_symbol:PTPN2 ; + skos:exactMatch UMLS:C1419100, + HGNC:9650, + HGNC_symbol:PTPN2 ; biolink:category biolink:Gene . OMIM:176888 a owl:Class ; @@ -63538,13 +65102,14 @@ OMIM:176888 a owl:Class ; IAO:0000142 PMID:1655529, PMID:17761881, PMID:8404049 ; - oboInOwl:hasDbXref UMLS:C1419118 ; oboInOwl:hasExactSynonym "PTPRM", "protein-tyrosine phosphatase receptor-like 1", "protein-tyrosine phosphatase, receptor-type, mu" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5797 ; - skos:exactMatch HGNC_symbol:PTPRM ; + skos:exactMatch UMLS:C1419118, + HGNC:9675, + HGNC_symbol:PTPRM ; biolink:category biolink:Gene . OMIM:176889 a owl:Class ; @@ -63552,13 +65117,14 @@ OMIM:176889 a owl:Class ; IAO:0000142 PMID:1370651, PMID:1510684, PMID:1530918 ; - oboInOwl:hasDbXref UMLS:C1335284 ; oboInOwl:hasExactSynonym "PTPN7", "protein-tyrosine phosphatase, nonreceptor-type, 7", "protein-tyrosine phosphatase, nonreceptor-type, stress-induced" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5778 ; - skos:exactMatch HGNC_symbol:PTPN7 ; + skos:exactMatch UMLS:C1335284, + HGNC:9659, + HGNC_symbol:PTPN7 ; biolink:category biolink:Gene . OMIM:176891 a owl:Class ; @@ -63570,7 +65136,6 @@ OMIM:176891 a owl:Class ; PMID:1323835, PMID:7736789, PMID:8387522 ; - oboInOwl:hasDbXref UMLS:C1419126 ; oboInOwl:hasExactSynonym "PTPRZ1", "protein-tyrosine phosphatase, receptor-type, zeta-1", "ptp-zeta", @@ -63578,7 +65143,9 @@ OMIM:176891 a owl:Class ; "rptp-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5803 ; - skos:exactMatch HGNC_symbol:PTPRZ1 ; + skos:exactMatch UMLS:C1419126, + HGNC:9685, + HGNC_symbol:PTPRZ1 ; biolink:category biolink:Gene . OMIM:176892 a owl:Class ; @@ -63588,14 +65155,15 @@ OMIM:176892 a owl:Class ; PMID:33058759 ; RO:0002525 CHR:9606chr1p31.1 ; RO:0003303 OMIM:619143 ; - oboInOwl:hasDbXref UMLS:C1418902, - UMLS:C5436886 ; oboInOwl:hasExactSynonym "PRKACB", "protein kinase a, c-beta subunit", "protein kinase, camp-dependent, catalytic, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5567 ; - skos:exactMatch HGNC_symbol:PRKACB ; + skos:exactMatch UMLS:C1418902, + UMLS:C5436886, + HGNC:9381, + HGNC_symbol:PRKACB ; biolink:category biolink:Gene . OMIM:176893 a owl:Class ; @@ -63607,13 +65175,14 @@ OMIM:176893 a owl:Class ; PMID:9598317 ; RO:0002525 CHR:9606chr9q21.11 ; RO:0003303 OMIM:616176 ; - oboInOwl:hasDbXref UMLS:C1418903 ; oboInOwl:hasExactSynonym "PRKACG", "protein kinase a, c-gamma subunit", "protein kinase, camp-dependent, catalytic, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5568 ; - skos:exactMatch HGNC_symbol:PRKACG ; + skos:exactMatch UMLS:C1418903, + HGNC:9382, + HGNC_symbol:PRKACG ; biolink:category biolink:Gene . OMIM:176894 a owl:Class ; @@ -63634,7 +65203,6 @@ OMIM:176894 a owl:Class ; PMID:9606187 ; RO:0002525 CHR:9606chr10q11.23-q21.1 ; RO:0003303 OMIM:615436 ; - oboInOwl:hasDbXref UMLS:C1418929 ; oboInOwl:hasExactSynonym "PRKG1", "cgki-alpha", "cgmp-dependent protein kinase, iia i, alpha", @@ -63643,7 +65211,9 @@ OMIM:176894 a owl:Class ; "protein kinase, cgmp-dependent, regulatory, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5592 ; - skos:exactMatch HGNC_symbol:PRKG1 ; + skos:exactMatch UMLS:C1418929, + HGNC:9414, + HGNC_symbol:PRKG1 ; biolink:category biolink:Gene . OMIM:176895 a owl:Class ; @@ -63665,34 +65235,36 @@ OMIM:176895 a owl:Class ; PMID:9689066 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:614024 ; - oboInOwl:hasDbXref UMLS:C1418952 ; oboInOwl:hasExactSynonym "PROZ", "protein z", "pz", "vitamin k-dependent plasma glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8858 ; - skos:exactMatch HGNC_symbol:PROZ ; + skos:exactMatch UMLS:C1418952, + HGNC:9460, + HGNC_symbol:PROZ ; biolink:category biolink:Gene . OMIM:176900 a owl:Class ; rdfs:label "proteolytic capacity of plasma" ; IAO:0000142 PMID:4236913 ; - oboInOwl:hasDbXref UMLS:C1867621 ; - oboInOwl:hasExactSynonym "proteolytic capacity of plasma" . + oboInOwl:hasExactSynonym "proteolytic capacity of plasma" ; + skos:exactMatch UMLS:C1867621 . OMIM:176910 a owl:Class ; rdfs:label "PRKAR2A" ; IAO:0000142 PMID:15331577, PMID:2540040, PMID:9676433 ; - oboInOwl:hasDbXref UMLS:C1418910 ; oboInOwl:hasExactSynonym "PRKAR2A", "protein kinase a, rii-alpha subunit", "protein kinase, camp-dependent, regulatory, iia ii, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5576 ; - skos:exactMatch HGNC_symbol:PRKAR2A ; + skos:exactMatch UMLS:C1418910, + HGNC:9391, + HGNC_symbol:PRKAR2A ; biolink:category biolink:Gene . OMIM:176911 a owl:Class ; @@ -63707,14 +65279,15 @@ OMIM:176911 a owl:Class ; PMID:3243550 ; RO:0002525 CHR:9606chr7p22.3 ; RO:0003303 OMIM:619680 ; - oboInOwl:hasDbXref UMLS:C1418909 ; oboInOwl:hasExactSynonym "PRKAR1B", "prkar1", "protein kinase a, ri-beta subunit", "protein kinase, camp-dependent, regulatory, iia i, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5575 ; - skos:exactMatch HGNC_symbol:PRKAR1B ; + skos:exactMatch UMLS:C1418909, + HGNC:9390, + HGNC_symbol:PRKAR1B ; biolink:category biolink:Gene . OMIM:176912 a owl:Class ; @@ -63727,14 +65300,15 @@ OMIM:176912 a owl:Class ; PMID:3691190, PMID:8757131, PMID:9342379 ; - oboInOwl:hasDbXref UMLS:C1418911 ; oboInOwl:hasExactSynonym "PRKAR2B", "prkar2", "protein kinase a, rii-beta subunit", "protein kinase, camp-dependent, regulatory, iia ii, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5577 ; - skos:exactMatch HGNC_symbol:PRKAR2B ; + skos:exactMatch UMLS:C1418911, + HGNC:9392, + HGNC_symbol:PRKAR2B ; biolink:category biolink:Gene . OMIM:176914 a owl:Class ; @@ -63745,13 +65319,14 @@ OMIM:176914 a owl:Class ; PMID:23140390, PMID:8111128, PMID:8914631 ; - oboInOwl:hasDbXref UMLS:C1418821 ; oboInOwl:hasExactSynonym "PPP1CC", "protein phosphatase 1, catalytic subunit, gamma isoform", "protein phosphatase 1, gamma subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5501 ; - skos:exactMatch HGNC_symbol:PPP1CC ; + skos:exactMatch UMLS:C1418821, + HGNC:9283, + HGNC_symbol:PPP1CC ; biolink:category biolink:Gene . OMIM:176915 a owl:Class ; @@ -63775,13 +65350,14 @@ OMIM:176915 a owl:Class ; PMID:8383590 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:618354 ; - oboInOwl:hasDbXref UMLS:C1335241 ; oboInOwl:hasExactSynonym "PPP2CA", "protein phosphatase 2, catalytic subunit, alpha isoform", "protein phosphatase 2a, catalytic subunit, alpha isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5515 ; - skos:exactMatch HGNC_symbol:PPP2CA ; + skos:exactMatch UMLS:C1335241, + HGNC:9299, + HGNC_symbol:PPP2CA ; biolink:category biolink:Gene . OMIM:176916 a owl:Class ; @@ -63790,14 +65366,15 @@ OMIM:176916 a owl:Class ; PMID:2849765, PMID:8383590, PMID:8786118 ; - oboInOwl:hasDbXref UMLS:C1335242 ; oboInOwl:hasExactSynonym "PPP2CB", "pp2cb", "protein phosphatase 2, catalytic subunit, beta isoform", "protein phosphatase 2a, catalytic subunit, beta isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5516 ; - skos:exactMatch HGNC_symbol:PPP2CB ; + skos:exactMatch UMLS:C1335242, + HGNC:9300, + HGNC_symbol:PPP2CB ; biolink:category biolink:Gene . OMIM:176930 a owl:Class ; @@ -63866,7 +65443,6 @@ OMIM:176930 a owl:Class ; PMID:9869612 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:601367 ; - oboInOwl:hasDbXref UMLS:C1414504 ; oboInOwl:hasExactSynonym "F2", "coagulation factor 2", "factor 2", @@ -63874,7 +65450,9 @@ OMIM:176930 a owl:Class ; "thrombin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2147 ; - skos:exactMatch HGNC_symbol:F2 ; + skos:exactMatch UMLS:C1414504, + HGNC:3535, + HGNC_symbol:F2 ; biolink:category biolink:Gene . OMIM:176940 a owl:Class ; @@ -63891,13 +65469,14 @@ OMIM:176940 a owl:Class ; PMID:7759097, PMID:8341667, PMID:9645951 ; - oboInOwl:hasDbXref UMLS:C1419781 ; oboInOwl:hasExactSynonym "S100A1", "s100 calcium-binding protein a1", "s100-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6271 ; - skos:exactMatch HGNC_symbol:S100A1 ; + skos:exactMatch UMLS:C1419781, + HGNC:10486, + HGNC_symbol:S100A1 ; biolink:category biolink:Gene . OMIM:176941 a owl:Class ; @@ -63916,12 +65495,13 @@ OMIM:176941 a owl:Class ; PMID:8432525 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:611521 ; - oboInOwl:hasDbXref UMLS:C1421249 ; oboInOwl:hasExactSynonym "TYK2", "tyrosine kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7297 ; - skos:exactMatch HGNC_symbol:TYK2 ; + skos:exactMatch UMLS:C1421249, + HGNC:12440, + HGNC_symbol:TYK2 ; biolink:category biolink:Gene . OMIM:176942 a owl:Class ; @@ -63932,13 +65512,14 @@ OMIM:176942 a owl:Class ; PMID:2209086, PMID:2725517, PMID:7894174 ; - oboInOwl:hasDbXref UMLS:C0812288 ; oboInOwl:hasExactSynonym "FER", "fps/fes-related tyrosine kinase", "protein-tyrosine kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2241 ; - skos:exactMatch HGNC_symbol:FER ; + skos:exactMatch UMLS:C0812288, + HGNC:3655, + HGNC_symbol:FER ; biolink:category biolink:Gene . OMIM:176944 a owl:Class ; @@ -63950,7 +65531,6 @@ OMIM:176945 a owl:Class ; IAO:0000142 PMID:1648701, PMID:9214628, PMID:9267020 ; - oboInOwl:hasDbXref UMLS:C1333339 ; oboInOwl:hasExactSynonym "EPHA8", "eph- and elk-related kinase", "ephrin receptor epha8", @@ -63958,7 +65538,9 @@ OMIM:176945 a owl:Class ; "protein tyrosine kinase eek" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2046 ; - skos:exactMatch HGNC_symbol:EPHA8 ; + skos:exactMatch UMLS:C1333339, + HGNC:3391, + HGNC_symbol:EPHA8 ; biolink:category biolink:Gene . OMIM:176946 a owl:Class ; @@ -63981,16 +65563,17 @@ OMIM:176946 a owl:Class ; PMID:9119409 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:116600 ; - oboInOwl:hasDbXref UMLS:C1333337, - UMLS:C4016347, - UMLS:C4016348, - UMLS:C4016349 ; oboInOwl:hasExactSynonym "EPHA2", "ephrin receptor epha2", "epithelial cell receptor protein-tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1969 ; - skos:exactMatch HGNC_symbol:EPHA2 ; + skos:exactMatch UMLS:C1333337, + UMLS:C4016347, + UMLS:C4016348, + UMLS:C4016349, + HGNC:3386, + HGNC_symbol:EPHA2 ; biolink:category biolink:Gene . OMIM:176947 a owl:Class ; @@ -64013,9 +65596,6 @@ OMIM:176947 a owl:Class ; PMID:9021148 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:269840 ; - oboInOwl:hasDbXref UMLS:C1421567, - UMLS:C2931299, - UMLS:C4310768 ; oboInOwl:hasExactSynonym "ZAP70", "protein tyrosine kinase zap70", "syk-related tyrosine kinase", @@ -64023,7 +65603,11 @@ OMIM:176947 a owl:Class ; "zeta-chain-associated protein kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7535 ; - skos:exactMatch HGNC_symbol:ZAP70 ; + skos:exactMatch UMLS:C1421567, + UMLS:C2931299, + UMLS:C4310768, + HGNC:12858, + HGNC_symbol:ZAP70 ; biolink:category biolink:Gene . OMIM:176948 a owl:Class ; @@ -64057,8 +65641,6 @@ OMIM:176948 a owl:Class ; PMID:9660836 ; RO:0002525 CHR:9606chr22q11.22 ; RO:0003303 OMIM:619087 ; - oboInOwl:hasDbXref UMLS:C1366882, - UMLS:C5436773 ; oboInOwl:hasExactSynonym "MAPK1", "extracellular signal-regulated kinase 2", "mitogen-activated protein kinase 1", @@ -64068,7 +65650,10 @@ OMIM:176948 a owl:Class ; "protein tyrosine kinase erk2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5594 ; - skos:exactMatch HGNC_symbol:MAPK1 ; + skos:exactMatch UMLS:C1366882, + UMLS:C5436773, + HGNC:6871, + HGNC_symbol:MAPK1 ; biolink:category biolink:Gene . OMIM:176949 a owl:Class ; @@ -64077,7 +65662,6 @@ OMIM:176949 a owl:Class ; PMID:7969157, PMID:8290275, PMID:8875888 ; - oboInOwl:hasDbXref UMLS:C1334479 ; oboInOwl:hasExactSynonym "MAPK4", "erk3-related", "mitogen-activated protein kinase 4", @@ -64086,7 +65670,9 @@ OMIM:176949 a owl:Class ; "protein-tyrosine kinase erk3-related" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5596 ; - skos:exactMatch HGNC_symbol:MAPK4 ; + skos:exactMatch UMLS:C1334479, + HGNC:6878, + HGNC_symbol:MAPK4 ; biolink:category biolink:Gene . OMIM:176950 a owl:Class ; @@ -64117,13 +65703,14 @@ OMIM:176960 a owl:Class ; PMID:8077302, PMID:9539124 ; RO:0002525 CHR:9606chr17q24.2 ; - oboInOwl:hasDbXref UMLS:C1335261 ; oboInOwl:hasExactSynonym "PRKCA", "pkca", "protein kinase c, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5578 ; - skos:exactMatch HGNC_symbol:PRKCA ; + skos:exactMatch UMLS:C1335261, + HGNC:9393, + HGNC_symbol:PRKCA ; biolink:category biolink:Gene . OMIM:176970 a owl:Class ; @@ -64140,7 +65727,6 @@ OMIM:176970 a owl:Class ; PMID:8670417, PMID:9410895, PMID:9856494 ; - oboInOwl:hasDbXref UMLS:C1418913 ; oboInOwl:hasExactSynonym "PRKCB", "pkcb", "prkcb1", @@ -64148,7 +65734,9 @@ OMIM:176970 a owl:Class ; "protein kinase c, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5579 ; - skos:exactMatch HGNC_symbol:PRKCB ; + skos:exactMatch UMLS:C1418913, + HGNC:9395, + HGNC_symbol:PRKCB ; biolink:category biolink:Gene . OMIM:176975 a owl:Class ; @@ -64167,13 +65755,14 @@ OMIM:176975 a owl:Class ; PMID:28934384, PMID:9360998, PMID:9683604 ; - oboInOwl:hasDbXref UMLS:C1418918 ; oboInOwl:hasExactSynonym "PRKCE", "pkce", "protein kinase c, epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5581 ; - skos:exactMatch HGNC_symbol:PRKCE ; + skos:exactMatch UMLS:C1418918, + HGNC:9401, + HGNC_symbol:PRKCE ; biolink:category biolink:Gene . OMIM:176977 a owl:Class ; @@ -64198,13 +65787,14 @@ OMIM:176977 a owl:Class ; PMID:8357834 ; RO:0002525 CHR:9606chr3p21.1 ; RO:0003303 OMIM:615559 ; - oboInOwl:hasDbXref UMLS:C1418916 ; oboInOwl:hasExactSynonym "PRKCD", "pkcd", "protein kinase c, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5580 ; - skos:exactMatch HGNC_symbol:PRKCD ; + skos:exactMatch UMLS:C1418916, + HGNC:9399, + HGNC_symbol:PRKCD ; biolink:category biolink:Gene . OMIM:176980 a owl:Class ; @@ -64233,13 +65823,14 @@ OMIM:176980 a owl:Class ; PMID:9545390 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:605361 ; - oboInOwl:hasDbXref UMLS:C1418919 ; oboInOwl:hasExactSynonym "PRKCG", "pkcc", "protein kinase c, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5582 ; - skos:exactMatch HGNC_symbol:PRKCG ; + skos:exactMatch UMLS:C1418919, + HGNC:9402, + HGNC_symbol:PRKCG ; biolink:category biolink:Gene . OMIM:176981 a owl:Class ; @@ -64255,14 +65846,15 @@ OMIM:176981 a owl:Class ; PMID:25416947, PMID:28636603, PMID:8302854 ; - oboInOwl:hasDbXref UMLS:C1415151 ; oboInOwl:hasExactSynonym "RACK1", "guanine nucleotide-binding protein, beta-2-like 1", "protein kinase c, receptor for activated, 1", "receptor for activated protein kinase c, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10399 ; - skos:exactMatch HGNC_symbol:RACK1 ; + skos:exactMatch UMLS:C1415151, + HGNC:4399, + HGNC_symbol:RACK1 ; biolink:category biolink:Gene . OMIM:176982 a owl:Class ; @@ -64289,7 +65881,6 @@ OMIM:176982 a owl:Class ; PMID:23283174, PMID:8224878, PMID:8378304 ; - oboInOwl:hasDbXref UMLS:C1418928 ; oboInOwl:hasExactSynonym "PRKCZ", "pkc-zeta", "pkc2", @@ -64297,7 +65888,9 @@ OMIM:176982 a owl:Class ; "protein kinase c, zeta form" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5590 ; - skos:exactMatch HGNC_symbol:PRKCZ ; + skos:exactMatch UMLS:C1418928, + HGNC:9412, + HGNC_symbol:PRKCZ ; biolink:category biolink:Gene . OMIM:176990 a owl:Class ; @@ -64310,38 +65903,41 @@ OMIM:176990 a owl:Class ; PMID:2530061, PMID:2964086, PMID:8202493 ; - oboInOwl:hasDbXref UMLS:C1419790 ; oboInOwl:hasExactSynonym "S100B", "s100 calcium-binding protein, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6285 ; - skos:exactMatch HGNC_symbol:S100B ; + skos:exactMatch UMLS:C1419790, + HGNC:10500, + HGNC_symbol:S100B ; biolink:category biolink:Gene . OMIM:176991 a owl:Class ; rdfs:label "S100A5" ; IAO:0000142 PMID:7759097, PMID:8341667 ; - oboInOwl:hasDbXref UMLS:C1419787 ; oboInOwl:hasExactSynonym "S100A5", "s100 calcium-binding protein a5", "s100d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6276 ; - skos:exactMatch HGNC_symbol:S100A5 ; + skos:exactMatch UMLS:C1419787, + HGNC:10495, + HGNC_symbol:S100A5 ; biolink:category biolink:Gene . OMIM:176992 a owl:Class ; rdfs:label "S100A3" ; IAO:0000142 PMID:7759097, PMID:8341667 ; - oboInOwl:hasDbXref UMLS:C1419785 ; oboInOwl:hasExactSynonym "S100A3", "s100 calcium-binding protein a3", "s100e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6274 ; - skos:exactMatch HGNC_symbol:S100A3 ; + skos:exactMatch UMLS:C1419785, + HGNC:10493, + HGNC_symbol:S100A3 ; biolink:category biolink:Gene . OMIM:176993 a owl:Class ; @@ -64349,13 +65945,14 @@ OMIM:176993 a owl:Class ; IAO:0000142 PMID:7759097, PMID:8341667, PMID:9645951 ; - oboInOwl:hasDbXref UMLS:C1335797 ; oboInOwl:hasExactSynonym "S100A2", "s100 calcium-binding protein a2", "s100l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6273 ; - skos:exactMatch HGNC_symbol:S100A2 ; + skos:exactMatch UMLS:C1335797, + HGNC:10492, + HGNC_symbol:S100A2 ; biolink:category biolink:Gene . OMIM:177010 a owl:Class ; @@ -64368,7 +65965,6 @@ OMIM:177010 a owl:Class ; PMID:2877744, PMID:3427015, PMID:7665170 ; - oboInOwl:hasDbXref UMLS:C1418552 ; oboInOwl:hasExactSynonym "SERPINE2", "glial-derived neurite promoting factor", "glial-derived nexin 1", @@ -64377,7 +65973,9 @@ OMIM:177010 a owl:Class ; "serpin peptidase inhibitor, clade e (nexin, plasminogen activator inhibitor iia 1), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5270 ; - skos:exactMatch HGNC_symbol:SERPINE2 ; + skos:exactMatch UMLS:C1418552, + HGNC:8951, + HGNC_symbol:SERPINE2 ; biolink:category biolink:Gene . OMIM:177015 a owl:Class ; @@ -64386,12 +65984,13 @@ OMIM:177015 a owl:Class ; PMID:12466556, PMID:2948189, PMID:8268911 ; - oboInOwl:hasDbXref UMLS:C1419002 ; oboInOwl:hasExactSynonym "PSKH1", "protein serine kinase h1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5681 ; - skos:exactMatch HGNC_symbol:PSKH1 ; + skos:exactMatch UMLS:C1419002, + HGNC:9529, + HGNC_symbol:PSKH1 ; biolink:category biolink:Gene . OMIM:177020 a owl:Class ; @@ -64411,7 +66010,6 @@ OMIM:177020 a owl:Class ; PMID:6297657, PMID:8508676, PMID:9021140 ; - oboInOwl:hasDbXref UMLS:C1335267 ; oboInOwl:hasExactSynonym "PRTN3", "azurophil granule protein 7", "myeloblastin", @@ -64421,7 +66019,9 @@ OMIM:177020 a owl:Class ; "serine proteinase, neutrophil wegener autoantigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5657 ; - skos:exactMatch HGNC_symbol:PRTN3 ; + skos:exactMatch UMLS:C1335267, + HGNC:9495, + HGNC_symbol:PRTN3 ; biolink:category biolink:Gene . OMIM:177030 a owl:Class ; @@ -64444,7 +66044,6 @@ OMIM:177045 a owl:Class ; PMID:8396732 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:617591 ; - oboInOwl:hasDbXref UMLS:C1419019 ; oboInOwl:hasExactSynonym "PSMB9", "large multifunctional protease 2", "proteasome subunit beta-1i", @@ -64453,7 +66052,9 @@ OMIM:177045 a owl:Class ; "ring12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5698 ; - skos:exactMatch HGNC_symbol:PSMB9 ; + skos:exactMatch UMLS:C1419019, + HGNC:9546, + HGNC_symbol:PSMB9 ; biolink:category biolink:Gene . OMIM:177046 a owl:Class ; @@ -64473,7 +66074,6 @@ OMIM:177046 a owl:Class ; PMID:8495043 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:256040 ; - oboInOwl:hasDbXref UMLS:C1419018 ; oboInOwl:hasExactSynonym "PSMB8", "large multifunctional protease 7", "proteasome subunit beta-5i", @@ -64482,7 +66082,9 @@ OMIM:177046 a owl:Class ; "ring10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5696 ; - skos:exactMatch HGNC_symbol:PSMB8 ; + skos:exactMatch UMLS:C1419018, + HGNC:9545, + HGNC_symbol:PSMB8 ; biolink:category biolink:Gene . OMIM:177050 a owl:Class ; @@ -64492,8 +66094,8 @@ OMIM:177050 a owl:Class ; PMID:5578763, PMID:629604, PMID:7218282 ; - oboInOwl:hasDbXref UMLS:C0409495 ; oboInOwl:hasExactSynonym "protrusio acetabuli" ; + skos:exactMatch UMLS:C0409495 ; biolink:category biolink:Disease . OMIM:177061 a owl:Class ; @@ -64510,14 +66112,15 @@ OMIM:177061 a owl:Class ; PMID:7862670, PMID:8162705, PMID:8420923 ; - oboInOwl:hasDbXref UMLS:C1416956 ; oboInOwl:hasExactSynonym "MARCKS", "mac", "myristoylated alanine-rich protein kinase c substrate", "protein kinase c substrate, 80-kd, light chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4082 ; - skos:exactMatch HGNC_symbol:MARCKS ; + skos:exactMatch UMLS:C1416956, + HGNC:6759, + HGNC_symbol:MARCKS ; biolink:category biolink:Gene . OMIM:177070 a owl:Class ; @@ -64542,12 +66145,13 @@ OMIM:177070 a owl:Class ; PMID:9205130 ; RO:0002525 CHR:9606chr15q15.2 ; RO:0003303 OMIM:612690 ; - oboInOwl:hasDbXref UMLS:C1414426 ; oboInOwl:hasExactSynonym "EPB42", "protein 4.2, erythrocytic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2038 ; - skos:exactMatch HGNC_symbol:EPB42 ; + skos:exactMatch UMLS:C1414426, + HGNC:3381, + HGNC_symbol:EPB42 ; biolink:category biolink:Gene . OMIM:177075 a owl:Class ; @@ -64577,20 +66181,21 @@ OMIM:177075 a owl:Class ; PMID:9815263 ; RO:0002525 CHR:9606chr16q23.2 ; RO:0003303 OMIM:610202 ; - oboInOwl:hasDbXref UMLS:C0919481 ; oboInOwl:hasExactSynonym "MAF", "maf bzip transcription factor", "protooncogene maf", "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4094 ; - skos:exactMatch HGNC_symbol:MAF ; + skos:exactMatch UMLS:C0919481, + HGNC:6776, + HGNC_symbol:MAF ; biolink:category biolink:Gene . OMIM:177100 a owl:Class ; rdfs:label "pruritus, hereditary localized" ; - oboInOwl:hasDbXref UMLS:C1867499 ; - oboInOwl:hasExactSynonym "pruritus, hereditary localized" . + oboInOwl:hasExactSynonym "pruritus, hereditary localized" ; + skos:exactMatch UMLS:C1867499 . OMIM:177150 a owl:Class ; IAO:0100001 OMIM:177170 ; @@ -64616,27 +66221,27 @@ OMIM:177200 a owl:Class ; PMID:9350583, PMID:9626162, PMID:9649551 ; - oboInOwl:hasDbXref UMLS:C0221043 ; oboInOwl:hasExactSynonym "LIDLS1", "liddle syndrome", "liddle syndrome 1", "pseudoaldosteronism", "pseudohyperaldosteronism" ; rdfs:subClassOf OMIMPS:177200 ; + skos:exactMatch UMLS:C0221043 ; biolink:category biolink:Disease . OMIM:177300 a owl:Class ; rdfs:label "pseudoarthrogryposis" ; - oboInOwl:hasDbXref UMLS:C1867485 ; oboInOwl:hasExactSynonym "ankylosis at elbow and knee", "hereditary congenital rigidity of elbows and knees", - "pseudoarthrogryposis" . + "pseudoarthrogryposis" ; + skos:exactMatch UMLS:C1867485 . OMIM:177350 a owl:Class ; rdfs:label "pseudoatrophoderma colli" ; IAO:0000142 PMID:7425667 ; - oboInOwl:hasDbXref UMLS:C0406561 ; - oboInOwl:hasExactSynonym "pseudoatrophoderma colli" . + oboInOwl:hasExactSynonym "pseudoatrophoderma colli" ; + skos:exactMatch UMLS:C0406561 . OMIM:177500 a owl:Class ; IAO:0100001 OMIM:177400 ; @@ -64645,8 +66250,8 @@ OMIM:177500 a owl:Class ; OMIM:177600 a owl:Class ; rdfs:label "pseudocholinesterase, increase 1n plasma level of" ; IAO:0000142 PMID:5904555 ; - oboInOwl:hasDbXref UMLS:C1867466 ; - oboInOwl:hasExactSynonym "pseudocholinesterase, increase 1n plasma level of" . + oboInOwl:hasExactSynonym "pseudocholinesterase, increase 1n plasma level of" ; + skos:exactMatch UMLS:C1867466 . OMIM:177720 a owl:Class ; IAO:0100001 OMIM:194380 ; @@ -64654,8 +66259,8 @@ OMIM:177720 a owl:Class ; OMIM:177750 a owl:Class ; rdfs:label "pseudomonilethrix" ; - oboInOwl:hasDbXref UMLS:C0432346 ; oboInOwl:hasExactSynonym "pseudomonilethrix" ; + skos:exactMatch UMLS:C0432346 ; biolink:category biolink:Disease . OMIM:177800 a owl:Class ; @@ -64668,8 +66273,8 @@ OMIM:177800 a owl:Class ; PMID:14830666, PMID:4752231, PMID:5933899 ; - oboInOwl:hasDbXref UMLS:C0155300 ; - oboInOwl:hasExactSynonym "pseudopapilledema" . + oboInOwl:hasExactSynonym "pseudopapilledema" ; + skos:exactMatch UMLS:C0155300 . OMIM:177820 a owl:Class ; rdfs:label "pseudo-von willebrand disease" ; @@ -64681,12 +66286,12 @@ OMIM:177820 a owl:Class ; PMID:6798443, PMID:8384898, PMID:8486780 ; - oboInOwl:hasDbXref UMLS:C1280798 ; oboInOwl:hasExactSynonym "VWDP", "bleeding disorder, platelet-type, 3", "pseudo-von willebrand disease", "von willebrand disease, platelet-type" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C1280798 ; biolink:category biolink:Disease . OMIM:177860 a owl:Class ; @@ -64699,16 +66304,16 @@ OMIM:177980 a owl:Class ; PMID:4075567, PMID:7554353, PMID:7554372 ; - oboInOwl:hasDbXref UMLS:C1867443 ; oboInOwl:hasExactSynonym "haspeslagh syndrome", "pterygia, mental retardation, and distinctive craniofacial features" ; + skos:exactMatch UMLS:C1867443 ; biolink:category biolink:Disease . OMIM:177990 a owl:Class ; rdfs:label "pterygium colli, isolated" ; IAO:0000142 PMID:7205502 ; - oboInOwl:hasDbXref UMLS:C1867442 ; - oboInOwl:hasExactSynonym "pterygium colli, isolated" . + oboInOwl:hasExactSynonym "pterygium colli, isolated" ; + skos:exactMatch UMLS:C1867442 . OMIM:178000 a owl:Class ; rdfs:label "pterygium of conjunctiva and cornea" ; @@ -64718,8 +66323,8 @@ OMIM:178000 a owl:Class ; PMID:14129265, PMID:2359104, PMID:5888370 ; - oboInOwl:hasDbXref UMLS:C1867441 ; - oboInOwl:hasExactSynonym "pterygium of conjunctiva and cornea" . + oboInOwl:hasExactSynonym "pterygium of conjunctiva and cornea" ; + skos:exactMatch UMLS:C1867441 . OMIM:178110 a owl:Class ; rdfs:label "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a" ; @@ -64733,8 +66338,6 @@ OMIM:178110 a owl:Class ; PMID:29314551, PMID:29805041, PMID:8923935 ; - oboInOwl:hasDbXref UMLS:C1867440, - ORPHA:65743 ; oboInOwl:hasExactSynonym "CPSFS1A", "arthrogryposis, distal, iia 8, formerly", "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a", @@ -64742,6 +66345,8 @@ OMIM:178110 a owl:Class ; "multiple pterygium syndrome, autosomal dominant", "pterygium syndrome, multiple" ; rdfs:subClassOf OMIMPS:178110 ; + skos:exactMatch UMLS:C1867440, + ORPHA:65743 ; biolink:category biolink:Disease . OMIM:178200 a owl:Class ; @@ -64750,28 +66355,28 @@ OMIM:178200 a owl:Class ; PMID:2311269, PMID:3052049, PMID:3409540 ; - oboInOwl:hasDbXref UMLS:C1867439 ; oboInOwl:hasExactSynonym "pterygium, antecubital" ; + skos:exactMatch UMLS:C1867439 ; biolink:category biolink:Disease . OMIM:178330 a owl:Class ; rdfs:label "ptosis, strabismus, and ectopic pupils" ; IAO:0000142 PMID:949861 ; - oboInOwl:hasDbXref UMLS:C1867437 ; - oboInOwl:hasExactSynonym "ptosis, strabismus, and ectopic pupils" . + oboInOwl:hasExactSynonym "ptosis, strabismus, and ectopic pupils" ; + skos:exactMatch UMLS:C1867437 . OMIM:178350 a owl:Class ; rdfs:label "pubic bone dysplasia" ; IAO:0000142 PMID:5000086 ; - oboInOwl:hasDbXref UMLS:C1867436 ; oboInOwl:hasExactSynonym "pubic bone dysplasia" ; + skos:exactMatch UMLS:C1867436 ; biolink:category biolink:Disease . OMIM:178370 a owl:Class ; rdfs:label "pulmonary atresia with ventricular septal defect" ; IAO:0000142 PMID:7377161 ; - oboInOwl:hasDbXref UMLS:C0344976 ; - oboInOwl:hasExactSynonym "pulmonary atresia with ventricular septal defect" . + oboInOwl:hasExactSynonym "pulmonary atresia with ventricular septal defect" ; + skos:exactMatch UMLS:C0344976 . OMIM:178400 a owl:Class ; rdfs:label "pulmonary edema of mountaineers, susceptibility to" ; @@ -64784,16 +66389,16 @@ OMIM:178400 a owl:Class ; PMID:7560074, PMID:8589728, PMID:8760127 ; - oboInOwl:hasDbXref UMLS:C0340552 ; oboInOwl:hasExactSynonym "high altitude pulmonary hypertension", - "pulmonary edema of mountaineers, susceptibility to" . + "pulmonary edema of mountaineers, susceptibility to" ; + skos:exactMatch UMLS:C0340552 . OMIM:178550 a owl:Class ; rdfs:label "pulmonary hemosiderosis" ; IAO:0000142 PMID:621956, PMID:8801109 ; - oboInOwl:hasDbXref UMLS:C0020807 ; - oboInOwl:hasExactSynonym "pulmonary hemosiderosis" . + oboInOwl:hasExactSynonym "pulmonary hemosiderosis" ; + skos:exactMatch UMLS:C0020807 . OMIM:178600 a owl:Class ; rdfs:label "pulmonary hypertension, primary, 1" ; @@ -64836,11 +66441,6 @@ OMIM:178600 a owl:Class ; PMID:9193425, PMID:9486960, PMID:9729004 ; - oboInOwl:hasDbXref UMLS:C1969342, - UMLS:C1969343, - UMLS:C3203102, - UMLS:C3714844, - UMLS:C4552070 ; oboInOwl:hasExactSynonym "PPH1", "pht", "pph1 with hht", @@ -64850,13 +66450,18 @@ OMIM:178600 a owl:Class ; "pulmonary hypertension, primary, dexfenfluramine-associated", "pulmonary hypertension, primary, fenfluramine-associated" ; rdfs:subClassOf OMIMPS:178600 ; + skos:exactMatch UMLS:C1969342, + UMLS:C1969343, + UMLS:C3203102, + UMLS:C3714844, + UMLS:C4552070 ; biolink:category biolink:Disease . OMIM:178610 a owl:Class ; rdfs:label "pulmonary nodular lymphoid hyperplasia, familial" ; IAO:0000142 PMID:1625100 ; - oboInOwl:hasDbXref UMLS:C1867419 ; - oboInOwl:hasExactSynonym "pulmonary nodular lymphoid hyperplasia, familial" . + oboInOwl:hasExactSynonym "pulmonary nodular lymphoid hyperplasia, familial" ; + skos:exactMatch UMLS:C1867419 . OMIM:178620 a owl:Class ; rdfs:label "SFTPC" ; @@ -64884,7 +66489,6 @@ OMIM:178620 a owl:Class ; PMID:7713515 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:610913 ; - oboInOwl:hasDbXref UMLS:C1442758 ; oboInOwl:hasExactSynonym "SFTPC", "psp-c", "pulmonary surfactant apoprotein psp-c", @@ -64894,7 +66498,9 @@ OMIM:178620 a owl:Class ; "surfactant-associated protein, pulmonary, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6440 ; - skos:exactMatch HGNC_symbol:SFTPC ; + skos:exactMatch UMLS:C1442758, + HGNC:10802, + HGNC_symbol:SFTPC ; biolink:category biolink:Gene . OMIM:178630 a owl:Class ; @@ -64918,7 +66524,6 @@ OMIM:178630 a owl:Class ; PMID:9813381 ; RO:0002525 CHR:9606chr10q22.3 ; RO:0003303 OMIM:619611 ; - oboInOwl:hasDbXref UMLS:C1420002 ; oboInOwl:hasExactSynonym "SFTPA1", "collectin 4", "pulmonary surfactant apoprotein psp-a", @@ -64927,7 +66532,9 @@ OMIM:178630 a owl:Class ; "surfactant-associated protein, pulmonary 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653509 ; - skos:exactMatch HGNC_symbol:SFTPA1 ; + skos:exactMatch UMLS:C1420002, + HGNC:10798, + HGNC_symbol:SFTPA1 ; biolink:category biolink:Gene . OMIM:178635 a owl:Class ; @@ -64946,7 +66553,6 @@ OMIM:178635 a owl:Class ; PMID:8428971, PMID:9153228, PMID:9751757 ; - oboInOwl:hasDbXref UMLS:C1442759 ; oboInOwl:hasExactSynonym "SFTPD", "collectin 7", "psp-d surfactant protein d", @@ -64955,7 +66561,9 @@ OMIM:178635 a owl:Class ; "surfactant-associated protein, pulmonary 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6441 ; - skos:exactMatch HGNC_symbol:SFTPD ; + skos:exactMatch UMLS:C1442759, + HGNC:10803, + HGNC_symbol:SFTPD ; biolink:category biolink:Gene . OMIM:178640 a owl:Class ; @@ -64984,7 +66592,6 @@ OMIM:178640 a owl:Class ; PMID:8421459 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:265120 ; - oboInOwl:hasDbXref UMLS:C1442757 ; oboInOwl:hasExactSynonym "SFTPB", "psp-b", "pulmonary surfactant apoprotein psp-b", @@ -64993,7 +66600,9 @@ OMIM:178640 a owl:Class ; "surfactant-associated protein, pulmonary, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6439 ; - skos:exactMatch HGNC_symbol:SFTPB ; + skos:exactMatch UMLS:C1442757, + HGNC:10801, + HGNC_symbol:SFTPB ; biolink:category biolink:Gene . OMIM:178642 a owl:Class ; @@ -65004,38 +66613,39 @@ OMIM:178642 a owl:Class ; PMID:8406480 ; RO:0002525 CHR:9606chr10q22.3 ; RO:0003303 OMIM:178500 ; - oboInOwl:hasDbXref UMLS:C1420003 ; oboInOwl:hasExactSynonym "SFTPA2", "collectin 5", "pulmonary surfactant protein aii", "surfactant, pulmonary-associated protein a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729238 ; - skos:exactMatch HGNC_symbol:SFTPA2 ; + skos:exactMatch UMLS:C1420003, + HGNC:10799, + HGNC_symbol:SFTPA2 ; biolink:category biolink:Gene . OMIM:178650 a owl:Class ; rdfs:label "pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities" ; IAO:0000142 PMID:4045962 ; - oboInOwl:hasDbXref UMLS:C1867407 ; oboInOwl:hasExactSynonym "ciuffo syndrome", - "pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities" . + "pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities" ; + skos:exactMatch UMLS:C1867407 . OMIM:178651 a owl:Class ; rdfs:label "pulmonic stenosis and deafness" ; IAO:0000142 PMID:5948041 ; - oboInOwl:hasDbXref UMLS:C1867406 ; - oboInOwl:hasExactSynonym "pulmonic stenosis and deafness" . + oboInOwl:hasExactSynonym "pulmonic stenosis and deafness" ; + skos:exactMatch UMLS:C1867406 . OMIM:178800 a owl:Class ; rdfs:label "pupil, egg-shaped" ; - oboInOwl:hasDbXref UMLS:C1867405 ; - oboInOwl:hasExactSynonym "pupil, egg-shaped" . + oboInOwl:hasExactSynonym "pupil, egg-shaped" ; + skos:exactMatch UMLS:C1867405 . OMIM:178900 a owl:Class ; rdfs:label "pupillary membrane, persistence of" ; - oboInOwl:hasDbXref UMLS:C0271130 ; - oboInOwl:hasExactSynonym "pupillary membrane, persistence of" . + oboInOwl:hasExactSynonym "pupillary membrane, persistence of" ; + skos:exactMatch UMLS:C0271130 . OMIM:178990 a owl:Class ; rdfs:label "MMP7" ; @@ -65051,29 +66661,30 @@ OMIM:178990 a owl:Class ; PMID:8921407, PMID:8978768, PMID:9888422 ; - oboInOwl:hasDbXref UMLS:C1417212 ; oboInOwl:hasExactSynonym "MMP7", "matrilysin, uterine", "matrix metalloproteinase 7", "putative metalloproteinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4316 ; - skos:exactMatch HGNC_symbol:MMP7 ; + skos:exactMatch UMLS:C1417212, + HGNC:7174, + HGNC_symbol:MMP7 ; biolink:category biolink:Gene . OMIM:178995 a owl:Class ; rdfs:label "pruritic urticarial papules and plaques of pregnancy" ; IAO:0000142 PMID:1583169 ; - oboInOwl:hasDbXref UMLS:C0269680 ; oboInOwl:hasExactSynonym "PUPPP", "polymorphic eruption of pregnancy", - "pruritic urticarial papules and plaques of pregnancy" . + "pruritic urticarial papules and plaques of pregnancy" ; + skos:exactMatch UMLS:C0269680 . OMIM:179000 a owl:Class ; rdfs:label "purpura simplex" ; IAO:0000142 PMID:13208770 ; - oboInOwl:hasDbXref UMLS:C0272309 ; - oboInOwl:hasExactSynonym "purpura simplex" . + oboInOwl:hasExactSynonym "purpura simplex" ; + skos:exactMatch UMLS:C0272309 . OMIM:179010 a owl:Class ; rdfs:label "pyloric stenosis, infantile hypertrophic, 1" ; @@ -65096,12 +66707,12 @@ OMIM:179010 a owl:Class ; PMID:8571963, PMID:9660065 ; RO:0002525 CHR:9606chr12q ; - oboInOwl:hasDbXref UMLS:C1867403 ; oboInOwl:hasExactSynonym "IHPS1", "pyloric stenosis, infantile", "pyloric stenosis, infantile hypertrophic", "pyloric stenosis, infantile hypertrophic, 1" ; rdfs:subClassOf OMIMPS:179010 ; + skos:exactMatch UMLS:C1867403 ; biolink:category biolink:Disease . OMIM:179020 a owl:Class ; @@ -65113,7 +66724,6 @@ OMIM:179020 a owl:Class ; PMID:9099727 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:618511 ; - oboInOwl:hasDbXref UMLS:C1418446 ; oboInOwl:hasExactSynonym "PDXK", "pkh", "pyridoxal kinase", @@ -65121,7 +66731,9 @@ OMIM:179020 a owl:Class ; "vitamin b6 kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8566 ; - skos:exactMatch HGNC_symbol:PDXK ; + skos:exactMatch UMLS:C1418446, + HGNC:8819, + HGNC_symbol:PDXK ; biolink:category biolink:Gene . OMIM:179030 a owl:Class ; @@ -65134,13 +66746,14 @@ OMIM:179030 a owl:Class ; PMID:6146563, PMID:809210, PMID:975879 ; - oboInOwl:hasDbXref UMLS:C1826646 ; oboInOwl:hasExactSynonym "PPA1", "pp", "pyrophosphatase, inorganic, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5464 ; - skos:exactMatch HGNC_symbol:PPA1 ; + skos:exactMatch UMLS:C1826646, + HGNC:9226, + HGNC_symbol:PPA1 ; biolink:category biolink:Gene . OMIM:179035 a owl:Class ; @@ -65159,13 +66772,14 @@ OMIM:179035 a owl:Class ; PMID:4076251 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:614438 ; - oboInOwl:hasDbXref UMLS:C1419152 ; oboInOwl:hasExactSynonym "PYCR1", "pro3, yeast, human complement of", "pyrroline-5-carboxylate reductase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5831 ; - skos:exactMatch HGNC_symbol:PYCR1 ; + skos:exactMatch UMLS:C1419152, + HGNC:9721, + HGNC_symbol:PYCR1 ; biolink:category biolink:Gene . OMIM:179040 a owl:Class ; @@ -65184,14 +66798,15 @@ OMIM:179060 a owl:Class ; PMID:3422424 ; RO:0002525 CHR:9606chr3p14.3 ; RO:0003303 OMIM:614111 ; - oboInOwl:hasDbXref UMLS:C1418439, - UMLS:C3279841 ; oboInOwl:hasExactSynonym "PDHB", "pyruvate dehydrogenase complex, e1 beta polypeptide", "pyruvate dehydrogenase, beta polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5162 ; - skos:exactMatch HGNC_symbol:PDHB ; + skos:exactMatch UMLS:C1418439, + UMLS:C3279841, + HGNC:8808, + HGNC_symbol:PDHB ; biolink:category biolink:Gene . OMIM:179061 a owl:Class ; @@ -65201,13 +66816,14 @@ OMIM:179061 a owl:Class ; PMID:2249846 ; RO:0002525 CHR:9606chr4q22.3 ; RO:0003303 OMIM:619828 ; - oboInOwl:hasDbXref UMLS:C1418438 ; oboInOwl:hasExactSynonym "PDHA2", "pyruvate dehydrogenase, alpha-2", "pyruvate dehydrogenase, e1-alpha polypeptide, testis-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5161 ; - skos:exactMatch HGNC_symbol:PDHA2 ; + skos:exactMatch UMLS:C1418438, + HGNC:8807, + HGNC_symbol:PDHA2 ; biolink:category biolink:Gene . OMIM:179080 a owl:Class ; @@ -65217,14 +66833,15 @@ OMIM:179080 a owl:Class ; PMID:7544156, PMID:8812509, PMID:8954794 ; - oboInOwl:hasDbXref UMLS:C1419223 ; oboInOwl:hasExactSynonym "RABGGTB", "gg transferase, component B", "rab geranylgeranyl transferase, beta subunit", "rab geranylgeranyltransferase, beta component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5876 ; - skos:exactMatch HGNC_symbol:RABGGTB ; + skos:exactMatch UMLS:C1419223, + HGNC:9796, + HGNC_symbol:RABGGTB ; biolink:category biolink:Gene . OMIM:179090 a owl:Class ; @@ -65242,14 +66859,15 @@ OMIM:179095 a owl:Class ; PMID:7613042, PMID:7649561, PMID:8797826 ; - oboInOwl:hasDbXref UMLS:C1421272 ; oboInOwl:hasExactSynonym "UBE2B", "hhr6b", "rad6, yeast, homolog of, iia B", "ubiquitin-conjugating enzyme e2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7320 ; - skos:exactMatch HGNC_symbol:UBE2B ; + skos:exactMatch UMLS:C1421272, + HGNC:12473, + HGNC_symbol:UBE2B ; biolink:category biolink:Gene . OMIM:179200 a owl:Class ; @@ -65258,34 +66876,34 @@ OMIM:179200 a owl:Class ; PMID:13575461, PMID:5889064, PMID:7702079 ; - oboInOwl:hasDbXref UMLS:C1867398 ; oboInOwl:hasExactSynonym "radial heads, posterior dislocation of" ; + skos:exactMatch UMLS:C1867398 ; biolink:category biolink:Disease . OMIM:179250 a owl:Class ; rdfs:label "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema" ; IAO:0000142 PMID:7137222 ; - oboInOwl:hasDbXref UMLS:C1867397 ; - oboInOwl:hasExactSynonym "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema" . + oboInOwl:hasExactSynonym "radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema" ; + skos:exactMatch UMLS:C1867397 . OMIM:179270 a owl:Class ; rdfs:label "radial ray hypoplasia with choanal atresia" ; IAO:0000142 PMID:3425633 ; - oboInOwl:hasDbXref UMLS:C2931464 ; - oboInOwl:hasExactSynonym "radial ray hypoplasia with choanal atresia" . + oboInOwl:hasExactSynonym "radial ray hypoplasia with choanal atresia" ; + skos:exactMatch UMLS:C2931464 . OMIM:179280 a owl:Class ; rdfs:label "radial-renal syndrome" ; IAO:0000142 PMID:6829604, PMID:7363497 ; - oboInOwl:hasDbXref UMLS:C1867396 ; - oboInOwl:hasExactSynonym "radial-renal syndrome" . + oboInOwl:hasExactSynonym "radial-renal syndrome" ; + skos:exactMatch UMLS:C1867396 . OMIM:179400 a owl:Class ; rdfs:label "radius, aplasia of, with cleft lip/palate" ; IAO:0000142 PMID:6064533 ; - oboInOwl:hasDbXref UMLS:C1867395 ; - oboInOwl:hasExactSynonym "radius, aplasia of, with cleft lip/palate" . + oboInOwl:hasExactSynonym "radius, aplasia of, with cleft lip/palate" ; + skos:exactMatch UMLS:C1867395 . OMIM:179410 a owl:Class ; rdfs:label "RDX" ; @@ -65298,12 +66916,13 @@ OMIM:179410 a owl:Class ; PMID:8486357 ; RO:0002525 CHR:9606chr11q22.3 ; RO:0003303 OMIM:611022 ; - oboInOwl:hasDbXref UMLS:C1419330 ; oboInOwl:hasExactSynonym "RDX", "radixin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5962 ; - skos:exactMatch HGNC_symbol:RDX ; + skos:exactMatch UMLS:C1419330, + HGNC:9944, + HGNC_symbol:RDX ; biolink:category biolink:Gene . OMIM:179490 a owl:Class ; @@ -65318,19 +66937,20 @@ OMIM:179490 a owl:Class ; PMID:8432525, PMID:9194562, PMID:9341137 ; - oboInOwl:hasDbXref UMLS:C1419206 ; oboInOwl:hasExactSynonym "RAB3A", "ras-associated protein rab3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5864 ; - skos:exactMatch HGNC_symbol:RAB3A ; + skos:exactMatch UMLS:C1419206, + HGNC:9777, + HGNC_symbol:RAB3A ; biolink:category biolink:Gene . OMIM:179500 a owl:Class ; rdfs:label "raindrop hypopigmentation" ; IAO:0000142 PMID:11850954 ; - oboInOwl:hasDbXref UMLS:C1867393 ; - oboInOwl:hasExactSynonym "raindrop hypopigmentation" . + oboInOwl:hasExactSynonym "raindrop hypopigmentation" ; + skos:exactMatch UMLS:C1867393 . OMIM:179502 a owl:Class ; rdfs:label "RAP1GDS1" ; @@ -65341,8 +66961,6 @@ OMIM:179502 a owl:Class ; PMID:1907371, PMID:8262526 ; RO:0002525 CHR:9606chr4q23 ; - oboInOwl:hasDbXref UMLS:C1419268, - UMLS:C1867392 ; oboInOwl:hasExactSynonym "RAP1GDS1", "gdp-dissociation stimulator 1", "gtpase-gdp dissociation stimulator, rap1, 1", @@ -65351,7 +66969,10 @@ OMIM:179502 a owl:Class ; "smggds" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5910 ; - skos:exactMatch HGNC_symbol:RAP1GDS1 ; + skos:exactMatch UMLS:C1419268, + UMLS:C1867392, + HGNC:9859, + HGNC_symbol:RAP1GDS1 ; biolink:category biolink:Gene . OMIM:179503 a owl:Class ; @@ -65361,8 +66982,6 @@ OMIM:179503 a owl:Class ; PMID:7859947, PMID:8248782, PMID:8603763 ; - oboInOwl:hasDbXref UMLS:C0919455, - UMLS:C1867391 ; oboInOwl:hasExactSynonym "RRAD", "rad polymorphism 1", "ras gene associated with diabetes", @@ -65370,7 +66989,10 @@ OMIM:179503 a owl:Class ; "rrad ras-related glycolysis inhibitor and calcium channel regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6236 ; - skos:exactMatch HGNC_symbol:RRAD ; + skos:exactMatch UMLS:C0919455, + UMLS:C1867391, + HGNC:10446, + HGNC_symbol:RRAD ; biolink:category biolink:Gene . OMIM:179505 a owl:Class ; @@ -65381,14 +67003,15 @@ OMIM:179505 a owl:Class ; PMID:20679435, PMID:8325658, PMID:9177787 ; - oboInOwl:hasDbXref UMLS:C1412519 ; oboInOwl:hasExactSynonym "RHOG", "arhg", "ras homolog gene family, member g", "ras homolog gene g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391 ; - skos:exactMatch HGNC_symbol:RHOG ; + skos:exactMatch UMLS:C1412519, + HGNC:672, + HGNC_symbol:RHOG ; biolink:category biolink:Gene . OMIM:179508 a owl:Class ; @@ -65404,13 +67027,14 @@ OMIM:179508 a owl:Class ; PMID:2501306, PMID:8838809, PMID:9341137 ; - oboInOwl:hasDbXref UMLS:C1419187 ; oboInOwl:hasExactSynonym "RAB1", "rab1a", "ras-associated protein rab1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5861 ; - skos:exactMatch HGNC_symbol:RAB1A ; + skos:exactMatch UMLS:C1419187, + HGNC:9758, + HGNC_symbol:RAB1A ; biolink:category biolink:Gene . OMIM:179509 a owl:Class ; @@ -65418,13 +67042,14 @@ OMIM:179509 a owl:Class ; IAO:0000142 PMID:12376746, PMID:2501306, PMID:8910601 ; - oboInOwl:hasDbXref UMLS:C1826755 ; oboInOwl:hasExactSynonym "RAB2", "rab2a", "ras-associated protein rab2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5862 ; - skos:exactMatch HGNC_symbol:RAB2A ; + skos:exactMatch UMLS:C1826755, + HGNC:9763, + HGNC_symbol:RAB2A ; biolink:category biolink:Gene . OMIM:179510 a owl:Class ; @@ -65432,12 +67057,13 @@ OMIM:179510 a owl:Class ; IAO:0000142 PMID:11832247, PMID:1999336, PMID:2501306 ; - oboInOwl:hasDbXref UMLS:C1419207 ; oboInOwl:hasExactSynonym "RAB3B", "ras-associated protein rab3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5865 ; - skos:exactMatch HGNC_symbol:RAB3B ; + skos:exactMatch UMLS:C1419207, + HGNC:9778, + HGNC_symbol:RAB3B ; biolink:category biolink:Gene . OMIM:179511 a owl:Class ; @@ -65448,13 +67074,14 @@ OMIM:179511 a owl:Class ; PMID:23019362, PMID:2501306, PMID:8825628 ; - oboInOwl:hasDbXref UMLS:C1419210 ; oboInOwl:hasExactSynonym "RAB4A", "rab4", "ras-associated protein rab4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5867 ; - skos:exactMatch HGNC_symbol:RAB4A ; + skos:exactMatch UMLS:C1419210, + HGNC:9781, + HGNC_symbol:RAB4A ; biolink:category biolink:Gene . OMIM:179512 a owl:Class ; @@ -65473,13 +67100,14 @@ OMIM:179512 a owl:Class ; PMID:27556945, PMID:8521472, PMID:9045618 ; - oboInOwl:hasDbXref UMLS:C1419212 ; oboInOwl:hasExactSynonym "RAB5A", "rab5", "ras-associated protein rab5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5868 ; - skos:exactMatch HGNC_symbol:RAB5A ; + skos:exactMatch UMLS:C1419212, + HGNC:9783, + HGNC_symbol:RAB5A ; biolink:category biolink:Gene . OMIM:179513 a owl:Class ; @@ -65490,25 +67118,27 @@ OMIM:179513 a owl:Class ; PMID:20360680, PMID:23091056, PMID:2501306 ; - oboInOwl:hasDbXref UMLS:C1419215 ; oboInOwl:hasExactSynonym "RAB6A", "ras-associated protein rab6", "ras-associated protein rab6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5870 ; - skos:exactMatch HGNC_symbol:RAB6A ; + skos:exactMatch UMLS:C1419215, + HGNC:9786, + HGNC_symbol:RAB6A ; biolink:category biolink:Gene . OMIM:179514 a owl:Class ; rdfs:label "RAB5B" ; IAO:0000142 PMID:1541686, PMID:8666383 ; - oboInOwl:hasDbXref UMLS:C1419213 ; oboInOwl:hasExactSynonym "RAB5B", "ras-associated protein rab5b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5869 ; - skos:exactMatch HGNC_symbol:RAB5B ; + skos:exactMatch UMLS:C1419213, + HGNC:9784, + HGNC_symbol:RAB5B ; biolink:category biolink:Gene . OMIM:179520 a owl:Class ; @@ -65525,13 +67155,14 @@ OMIM:179520 a owl:Class ; PMID:8449039, PMID:9311917, PMID:9927420 ; - oboInOwl:hasDbXref UMLS:C1335590 ; oboInOwl:hasExactSynonym "RAP1A", "krev1", "ras-related protein 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5906 ; - skos:exactMatch HGNC_symbol:RAP1A ; + skos:exactMatch UMLS:C1335590, + HGNC:9855, + HGNC_symbol:RAP1A ; biolink:category biolink:Gene . OMIM:179530 a owl:Class ; @@ -65546,12 +67177,13 @@ OMIM:179530 a owl:Class ; PMID:2504724, PMID:2849942, PMID:3137530 ; - oboInOwl:hasDbXref UMLS:C1419266 ; oboInOwl:hasExactSynonym "RAP1B", "ras-related protein rap1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5908 ; - skos:exactMatch HGNC_symbol:RAP1B ; + skos:exactMatch UMLS:C1419266, + HGNC:9857, + HGNC_symbol:RAP1B ; biolink:category biolink:Gene . OMIM:179540 a owl:Class ; @@ -65562,14 +67194,15 @@ OMIM:179540 a owl:Class ; PMID:2108841, PMID:30135582, PMID:3045729 ; - oboInOwl:hasDbXref UMLS:C1419269 ; oboInOwl:hasExactSynonym "RAP2A", "krev", "rap2", "ras-related protein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5911 ; - skos:exactMatch HGNC_symbol:RAP2A ; + skos:exactMatch UMLS:C1419269, + HGNC:9861, + HGNC_symbol:RAP2A ; biolink:category biolink:Gene . OMIM:179541 a owl:Class ; @@ -65579,12 +67212,13 @@ OMIM:179541 a owl:Class ; PMID:2118648, PMID:30135582, PMID:8356055 ; - oboInOwl:hasDbXref UMLS:C1419270 ; oboInOwl:hasExactSynonym "RAP2B", "ras-related protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5912 ; - skos:exactMatch HGNC_symbol:RAP2B ; + skos:exactMatch UMLS:C1419270, + HGNC:9862, + HGNC_symbol:RAP2B ; biolink:category biolink:Gene . OMIM:179550 a owl:Class ; @@ -65600,14 +67234,15 @@ OMIM:179550 a owl:Class ; PMID:3292391 ; RO:0002525 CHR:9606chr7p14.1 ; RO:0003303 OMIM:619311 ; - oboInOwl:hasDbXref UMLS:C0812284 ; oboInOwl:hasExactSynonym "RALA", "ras-like protein", "ras-like protooncogene a", "v-ral simian leukemia viral oncogene homolog a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5898 ; - skos:exactMatch HGNC_symbol:RALA ; + skos:exactMatch UMLS:C0812284, + HGNC:9839, + HGNC_symbol:RALA ; biolink:category biolink:Gene . OMIM:179551 a owl:Class ; @@ -65615,26 +67250,28 @@ OMIM:179551 a owl:Class ; IAO:0000142 PMID:14525976, PMID:17018283, PMID:2120779 ; - oboInOwl:hasDbXref UMLS:C0812283 ; oboInOwl:hasExactSynonym "RALB", "ras-like protein B", "ras-like protooncogene B", "v-ral simian leukemia viral oncogene homolog B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5899 ; - skos:exactMatch HGNC_symbol:RALB ; + skos:exactMatch UMLS:C0812283, + HGNC:9840, + HGNC_symbol:RALB ; biolink:category biolink:Gene . OMIM:179555 a owl:Class ; rdfs:label "RSU1" ; IAO:0000142 PMID:1508180, PMID:8288261 ; - oboInOwl:hasDbXref UMLS:C1335652 ; oboInOwl:hasExactSynonym "RSU1", "ras suppressor protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6251 ; - skos:exactMatch HGNC_symbol:RSU1 ; + skos:exactMatch UMLS:C1335652, + HGNC:10464, + HGNC_symbol:RSU1 ; biolink:category biolink:Gene . OMIM:179590 a owl:Class ; @@ -65652,22 +67289,23 @@ OMIM:179590 a owl:Class ; PMID:9245518 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:616001 ; - oboInOwl:hasDbXref UMLS:C1419115 ; oboInOwl:hasExactSynonym "PTPRF", "leukocyte antigen-related tyrosine phosphatase", "protein-tyrosine phosphatase, receptor-type, f", "receptor-linked protein-tyrosine phosphatase lar" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5792 ; - skos:exactMatch HGNC_symbol:PTPRF ; + skos:exactMatch UMLS:C1419115, + HGNC:9670, + HGNC_symbol:PTPRF ; biolink:category biolink:Gene . OMIM:179600 a owl:Class ; rdfs:label "raynaud disease" ; IAO:0000142 PMID:8670329 ; - oboInOwl:hasDbXref UMLS:C0034734 ; oboInOwl:hasExactSynonym "cold fingers, hereditary", "raynaud disease" ; + skos:exactMatch UMLS:C0034734 ; biolink:category biolink:Disease . OMIM:179605 a owl:Class ; @@ -65727,14 +67365,6 @@ OMIM:179605 a owl:Class ; PMID:9443872 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:136880 ; - oboInOwl:hasDbXref UMLS:C1826711, - UMLS:C1842475, - UMLS:C1842914, - UMLS:C2675552, - UMLS:C2751290, - UMLS:C4013102, - UMLS:C4016358, - UMLS:C4551999 ; oboInOwl:hasExactSynonym "PRPH2", "peripherin 2", "peripherin 2, mouse, homolog of", @@ -65743,7 +67373,16 @@ OMIM:179605 a owl:Class ; "retinal degeneration, slow, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5961 ; - skos:exactMatch HGNC_symbol:PRPH2 ; + skos:exactMatch UMLS:C1826711, + UMLS:C1842475, + UMLS:C1842914, + UMLS:C2675552, + UMLS:C2751290, + UMLS:C4013102, + UMLS:C4016358, + UMLS:C4551999, + HGNC:9942, + HGNC_symbol:PRPH2 ; biolink:category biolink:Gene . OMIM:179610 a owl:Class ; @@ -65752,7 +67391,6 @@ OMIM:179610 a owl:Class ; PMID:19759535, PMID:3221865, PMID:9267020 ; - oboInOwl:hasDbXref UMLS:C0812262 ; oboInOwl:hasExactSynonym "EPHA1", "eph tyrosine kinase 1", "eph tyrosine kinase/erythropoietin-producing hepatoma amplified sequence", @@ -65761,7 +67399,9 @@ OMIM:179610 a owl:Class ; "receptor tyrosine kinase eph" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2041 ; - skos:exactMatch HGNC_symbol:EPHA1 ; + skos:exactMatch UMLS:C0812262, + HGNC:3385, + HGNC_symbol:EPHA1 ; biolink:category biolink:Gene . OMIM:179611 a owl:Class ; @@ -65771,7 +67411,6 @@ OMIM:179611 a owl:Class ; PMID:18403711, PMID:7898931, PMID:8188238 ; - oboInOwl:hasDbXref UMLS:C0812263 ; oboInOwl:hasExactSynonym "EPHA3", "eph-like tyrosine kinase 1", "ephrin receptor epha3", @@ -65781,7 +67420,9 @@ OMIM:179611 a owl:Class ; "tyro4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2042 ; - skos:exactMatch HGNC_symbol:EPHA3 ; + skos:exactMatch UMLS:C0812263, + HGNC:3387, + HGNC_symbol:EPHA3 ; biolink:category biolink:Gene . OMIM:179613 a owl:Class ; @@ -65792,12 +67433,12 @@ OMIM:179613 a owl:Class ; PMID:3687942, PMID:49288, PMID:8256815 ; - oboInOwl:hasDbXref UMLS:C0795822, - ORPHA:96167 ; oboInOwl:hasExactSynonym "chromosome 8q22.1-qter duplication and 8pter-p23.1 deletion", "rec8 syndrome", "recombinant chromosome 8 syndrome", "san luis valley syndrome" ; + skos:exactMatch UMLS:C0795822, + ORPHA:96167 ; biolink:category biolink:Disease . OMIM:179615 a owl:Class ; @@ -65841,12 +67482,13 @@ OMIM:179615 a owl:Class ; PMID:9727489 ; RO:0002525 CHR:9606chr11p12 ; RO:0003303 OMIM:601457 ; - oboInOwl:hasDbXref UMLS:C0085218 ; oboInOwl:hasExactSynonym "RAG1", "recombination-activating gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5896 ; - skos:exactMatch HGNC_symbol:RAG1 ; + skos:exactMatch UMLS:C0085218, + HGNC:9831, + HGNC_symbol:RAG1 ; biolink:category biolink:Gene . OMIM:179616 a owl:Class ; @@ -65880,12 +67522,13 @@ OMIM:179616 a owl:Class ; PMID:9760994 ; RO:0002525 CHR:9606chr11p12 ; RO:0003303 OMIM:601457 ; - oboInOwl:hasDbXref UMLS:C1419248 ; oboInOwl:hasExactSynonym "RAG2", "recombination-activating gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5897 ; - skos:exactMatch HGNC_symbol:RAG2 ; + skos:exactMatch UMLS:C1419248, + HGNC:9832, + HGNC_symbol:RAG2 ; biolink:category biolink:Gene . OMIM:179617 a owl:Class ; @@ -65927,11 +67570,6 @@ OMIM:179617 a owl:Class ; PMID:8692798 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:114480 ; - oboInOwl:hasDbXref UMLS:C0346153, - UMLS:C1419240, - UMLS:C3281089, - UMLS:C4016360, - UMLS:C4284093 ; oboInOwl:hasExactSynonym "RAD51", "rad51 recombinase", "rad51, s. cerevisiae, homolog of", @@ -65940,7 +67578,13 @@ OMIM:179617 a owl:Class ; "recombination protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5888 ; - skos:exactMatch HGNC_symbol:RAD51 ; + skos:exactMatch UMLS:C0346153, + UMLS:C1419240, + UMLS:C3281089, + UMLS:C4016360, + UMLS:C4284093, + HGNC:9817, + HGNC_symbol:RAD51 ; biolink:category biolink:Gene . OMIM:179618 a owl:Class ; @@ -65956,7 +67600,6 @@ OMIM:179618 a owl:Class ; PMID:7607661, PMID:8097896, PMID:8422501 ; - oboInOwl:hasDbXref UMLS:C1419326 ; oboInOwl:hasExactSynonym "RCVRN", "cancer-associated retinopathy protein", "car protein", @@ -65964,15 +67607,17 @@ OMIM:179618 a owl:Class ; "recoverin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5957 ; - skos:exactMatch HGNC_symbol:RCVRN ; + skos:exactMatch UMLS:C1419326, + HGNC:9937, + HGNC_symbol:RCVRN ; biolink:category biolink:Gene . OMIM:179650 a owl:Class ; rdfs:label "red cell permeability defect" ; IAO:0000142 PMID:1018949 ; - oboInOwl:hasDbXref UMLS:C1867340 ; oboInOwl:hasExactSynonym "elliptocytosis with transverse slitlike changes", "red cell permeability defect" ; + skos:exactMatch UMLS:C1867340 ; biolink:category biolink:Disease . OMIM:179700 a owl:Class ; @@ -65985,11 +67630,11 @@ OMIM:179700 a owl:Class ; PMID:6091816, PMID:7136463, PMID:8416292 ; - oboInOwl:hasDbXref UMLS:C1867339 ; oboInOwl:hasExactSynonym "high red cell phosphatidylcholine hemolytic anemia", "leaky red cell syndrome", "phosphatidylcholine red cell membrane disorder", "red cell phospholipid defect with hemolysis" ; + skos:exactMatch UMLS:C1867339 ; biolink:category biolink:Disease . OMIM:179710 a owl:Class ; @@ -66007,13 +67652,14 @@ OMIM:179710 a owl:Class ; PMID:3785187, PMID:7616957, PMID:7851910 ; - oboInOwl:hasDbXref UMLS:C1826786 ; oboInOwl:hasExactSynonym "RCC1", "chromosome condensation 1", "regulator of chromosome condensation 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1104 ; - skos:exactMatch HGNC_symbol:RCC1 ; + skos:exactMatch UMLS:C1826786, + HGNC:1913, + HGNC_symbol:RCC1 ; biolink:category biolink:Gene . OMIM:179715 a owl:Class ; @@ -66029,13 +67675,14 @@ OMIM:179730 a owl:Class ; PMID:7919660, PMID:7958621, PMID:9886856 ; - oboInOwl:hasDbXref UMLS:C1419393 ; oboInOwl:hasExactSynonym "RLN1", "relaxin 1", "relaxin h1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6013 ; - skos:exactMatch HGNC_symbol:RLN1 ; + skos:exactMatch UMLS:C1419393, + HGNC:10026, + HGNC_symbol:RLN1 ; biolink:category biolink:Gene . OMIM:179740 a owl:Class ; @@ -66043,14 +67690,15 @@ OMIM:179740 a owl:Class ; IAO:0000142 PMID:2872469, PMID:2874276, PMID:2874277 ; - oboInOwl:hasDbXref UMLS:C1419394 ; oboInOwl:hasExactSynonym "RLN2", "relaxin 2", "relaxin h2", "relaxin, ovarian, of pregnancy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6019 ; - skos:exactMatch HGNC_symbol:RLN2 ; + skos:exactMatch UMLS:C1419394, + HGNC:10027, + HGNC_symbol:RLN2 ; biolink:category biolink:Gene . OMIM:179755 a owl:Class ; @@ -66062,15 +67710,16 @@ OMIM:179755 a owl:Class ; PMID:8986805 ; RO:0002525 CHR:9606chr1q23.1 ; RO:0003303 OMIM:605074 ; - oboInOwl:hasDbXref UMLS:C1418872, - UMLS:C1867338 ; oboInOwl:hasExactSynonym "PRCC", "papillary renal cell carcinoma translocation-associated gene", "prcc/tfe3 fusion gene", "proline-rich mitotic checkpoint control factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5546 ; - skos:exactMatch HGNC_symbol:PRCC ; + skos:exactMatch UMLS:C1418872, + UMLS:C1867338, + HGNC:9343, + HGNC_symbol:PRCC ; biolink:category biolink:Gene . OMIM:179760 a owl:Class ; @@ -66091,7 +67740,6 @@ OMIM:179780 a owl:Class ; PMID:7682195, PMID:8439558, PMID:9560193 ; - oboInOwl:hasDbXref UMLS:C1414134 ; oboInOwl:hasExactSynonym "DPEP1", "dehydropeptidase 1", "dipeptidase 1", @@ -66101,7 +67749,9 @@ OMIM:179780 a owl:Class ; "renal dipeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1800 ; - skos:exactMatch HGNC_symbol:DPEP1 ; + skos:exactMatch UMLS:C1414134, + HGNC:3002, + HGNC_symbol:DPEP1 ; biolink:category biolink:Gene . OMIM:179800 a owl:Class ; @@ -66123,9 +67773,6 @@ OMIM:179800 a owl:Class ; PMID:9312167, PMID:9600966, PMID:99456 ; - oboInOwl:hasDbXref UMLS:C1704380, - ORPHA:18, - ORPHA:93608 ; oboInOwl:hasExactSynonym "DRTA1", "renal tubular acidosis 1", "renal tubular acidosis, distal, 1", @@ -66133,6 +67780,9 @@ OMIM:179800 a owl:Class ; "rta, distal type, autosomal dominant", "rta, gradient iia" ; rdfs:subClassOf OMIMPS:179800 ; + skos:exactMatch UMLS:C1704380, + ORPHA:18, + ORPHA:93608 ; biolink:category biolink:Disease . OMIM:179820 a owl:Class ; @@ -66175,12 +67825,13 @@ OMIM:179820 a owl:Class ; PMID:8383701, PMID:8450055 ; RO:0002525 CHR:9606chr1q32.1 ; - oboInOwl:hasDbXref UMLS:C1419338 ; oboInOwl:hasExactSynonym "REN", "renin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5972 ; - skos:exactMatch HGNC_symbol:REN ; + skos:exactMatch UMLS:C1419338, + HGNC:9958, + HGNC_symbol:REN ; biolink:category biolink:Gene . OMIM:179830 a owl:Class ; @@ -66188,11 +67839,11 @@ OMIM:179830 a owl:Class ; IAO:0000142 PMID:17557941, PMID:5018384, PMID:888846 ; - oboInOwl:hasDbXref UMLS:C0268435 ; oboInOwl:hasExactSynonym "renal tubular acidosis 2", "renal tubular acidosis, proximal", "rta, proximal iia", - "rta, rate iia" . + "rta, rate iia" ; + skos:exactMatch UMLS:C0268435 . OMIM:179835 a owl:Class ; rdfs:label "RPA1" ; @@ -66214,14 +67865,15 @@ OMIM:179835 a owl:Class ; PMID:8756712 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:619767 ; - oboInOwl:hasDbXref UMLS:C1419618 ; oboInOwl:hasExactSynonym "RPA1", "repa1", "replication protein a1, 70-kd", "rpa70" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6117 ; - skos:exactMatch HGNC_symbol:RPA1 ; + skos:exactMatch UMLS:C1419618, + HGNC:10289, + HGNC_symbol:RPA1 ; biolink:category biolink:Gene . OMIM:179836 a owl:Class ; @@ -66233,14 +67885,15 @@ OMIM:179836 a owl:Class ; PMID:2406247, PMID:8020972, PMID:8454588 ; - oboInOwl:hasDbXref UMLS:C1419619 ; oboInOwl:hasExactSynonym "RPA2", "repa2", "replication protein a2, 32-kd", "rpa32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6118 ; - skos:exactMatch HGNC_symbol:RPA2 ; + skos:exactMatch UMLS:C1419619, + HGNC:10290, + HGNC_symbol:RPA2 ; biolink:category biolink:Gene . OMIM:179837 a owl:Class ; @@ -66249,14 +67902,15 @@ OMIM:179837 a owl:Class ; PMID:15273694, PMID:8020972, PMID:8454588 ; - oboInOwl:hasDbXref UMLS:C1419620 ; oboInOwl:hasExactSynonym "RPA3", "repa3", "replication protein a3, 14-kd", "rpa14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6119 ; - skos:exactMatch HGNC_symbol:RPA3 ; + skos:exactMatch UMLS:C1419620, + HGNC:10291, + HGNC_symbol:RPA3 ; biolink:category biolink:Gene . OMIM:179838 a owl:Class ; @@ -66271,7 +67925,6 @@ OMIM:179838 a owl:Class ; PMID:8222754, PMID:9707610, PMID:9784600 ; - oboInOwl:hasDbXref UMLS:C1824746 ; oboInOwl:hasExactSynonym "CLIP1", "cap-gly domain-containing linker protein 1", "cytoplasmic linker 1", @@ -66280,7 +67933,9 @@ OMIM:179838 a owl:Class ; "restin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6249 ; - skos:exactMatch HGNC_symbol:CLIP1 ; + skos:exactMatch UMLS:C1824746, + HGNC:10461, + HGNC_symbol:CLIP1 ; biolink:category biolink:Gene . OMIM:179840 a owl:Class ; @@ -66288,8 +67943,8 @@ OMIM:179840 a owl:Class ; IAO:0000142 PMID:17563005, PMID:666625, PMID:843272 ; - oboInOwl:hasDbXref UMLS:C1867332 ; - oboInOwl:hasExactSynonym "reticular dystrophy of retinal pigment epithelium" . + oboInOwl:hasExactSynonym "reticular dystrophy of retinal pigment epithelium" ; + skos:exactMatch UMLS:C1867332 . OMIM:179850 a owl:Class ; rdfs:label "dowling-degos disease 1" ; @@ -66307,20 +67962,20 @@ OMIM:179850 a owl:Class ; PMID:8799157, PMID:9529553, PMID:9621148 ; - oboInOwl:hasDbXref UMLS:C4552092 ; oboInOwl:hasExactSynonym "DDD1", "ddd", "dowling-degos disease 1", "reticular pigment anomaly of flexures" ; rdfs:subClassOf OMIMPS:179850 ; + skos:exactMatch UMLS:C4552092 ; biolink:category biolink:Disease . OMIM:179900 a owl:Class ; rdfs:label "retinal aplasia" ; IAO:0000142 PMID:20788857 ; - oboInOwl:hasDbXref UMLS:C1867331 ; oboInOwl:hasExactSynonym "amaurosis congenita", "retinal aplasia" ; + skos:exactMatch UMLS:C1867331 ; biolink:category biolink:Disease . OMIM:180000 a owl:Class ; @@ -66332,10 +67987,10 @@ OMIM:180000 a owl:Class ; PMID:4047598, PMID:5714765, PMID:9747676 ; - oboInOwl:hasDbXref UMLS:C1867327 ; oboInOwl:hasExactSynonym "RATOR", "retinal arteries, tortuosity of", "retinal hemorrhage with vascular tortuosity" ; + skos:exactMatch UMLS:C1867327 ; biolink:category biolink:Disease . OMIM:180040 a owl:Class ; @@ -66350,20 +68005,21 @@ OMIM:180040 a owl:Class ; PMID:8486383 ; RO:0002525 CHR:9606chr1q32.3 ; RO:0003303 OMIM:610612 ; - oboInOwl:hasDbXref UMLS:C1826790 ; oboInOwl:hasExactSynonym "RD3", "chromosome 1 open reading frame 36", "retinal degeneration 3", "retinal degeneration 3, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343035 ; - skos:exactMatch HGNC_symbol:RD3 ; + skos:exactMatch UMLS:C1826790, + HGNC:19689, + HGNC_symbol:RD3 ; biolink:category biolink:Gene . OMIM:180050 a owl:Class ; rdfs:label "retinal detachment" ; - oboInOwl:hasDbXref UMLS:C0035305 ; oboInOwl:hasExactSynonym "retinal detachment" ; + skos:exactMatch UMLS:C0035305 ; biolink:category biolink:Disease . OMIM:180060 a owl:Class ; @@ -66420,16 +68076,17 @@ OMIM:180069 a owl:Class ; PMID:9843205 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:618697 ; - oboInOwl:hasDbXref UMLS:C1419622, - UMLS:C1859844, - UMLS:C3151086, - UMLS:C4015968, - UMLS:C5231465 ; oboInOwl:hasExactSynonym "RPE65", "retinoid isomerohydrolase rpe65" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6121 ; - skos:exactMatch HGNC_symbol:RPE65 ; + skos:exactMatch UMLS:C1419622, + UMLS:C1859844, + UMLS:C3151086, + UMLS:C4015968, + UMLS:C5231465, + HGNC:10294, + HGNC_symbol:RPE65 ; biolink:category biolink:Gene . OMIM:180070 a owl:Class ; @@ -66451,15 +68108,16 @@ OMIM:180071 a owl:Class ; PMID:7698768 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:613810 ; - oboInOwl:hasDbXref UMLS:C1418425, - UMLS:C3151139 ; oboInOwl:hasExactSynonym "PDE6A", "phosphodiesterase 6a", "phosphodiesterase 6a, cgmp-specific, rod, alpha", "retinal rod photoreceptor cgmp phosphodiesterase, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5145 ; - skos:exactMatch HGNC_symbol:PDE6A ; + skos:exactMatch UMLS:C1418425, + UMLS:C3151139, + HGNC:8785, + HGNC_symbol:PDE6A ; biolink:category biolink:Gene . OMIM:180072 a owl:Class ; @@ -66514,9 +68172,6 @@ OMIM:180072 a owl:Class ; PMID:9987922 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:613801 ; - oboInOwl:hasDbXref UMLS:C1418426, - UMLS:C1876182, - UMLS:C3151107 ; oboInOwl:hasExactSynonym "PDE6B", "phosphodiesterase 6b", "phosphodiesterase 6b, cgmp-specific, rod, beta", @@ -66525,7 +68180,11 @@ OMIM:180072 a owl:Class ; "retinal rod photoreceptor cgmp phosphodiesterase, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5158 ; - skos:exactMatch HGNC_symbol:PDE6B ; + skos:exactMatch UMLS:C1418426, + UMLS:C1876182, + UMLS:C3151107, + HGNC:8786, + HGNC_symbol:PDE6B ; biolink:category biolink:Gene . OMIM:180073 a owl:Class ; @@ -66540,22 +68199,23 @@ OMIM:180073 a owl:Class ; PMID:9756475 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:613582 ; - oboInOwl:hasDbXref UMLS:C1418429, - UMLS:C3150821 ; oboInOwl:hasExactSynonym "PDE6G", "phosphodiesterase 6g", "phosphodiesterase 6g, cgmp-specific, rod, gamma", "retinal rod photoreceptor cgmp phosphodiesterase, gamma subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5148 ; - skos:exactMatch HGNC_symbol:PDE6G ; + skos:exactMatch UMLS:C1418429, + UMLS:C3150821, + HGNC:8789, + HGNC_symbol:PDE6G ; biolink:category biolink:Gene . OMIM:180080 a owl:Class ; rdfs:label "retinal venous beading" ; IAO:0000142 PMID:3606455 ; - oboInOwl:hasDbXref UMLS:C2939143 ; - oboInOwl:hasExactSynonym "retinal venous beading" . + oboInOwl:hasExactSynonym "retinal venous beading" ; + skos:exactMatch UMLS:C2939143 . OMIM:180090 a owl:Class ; rdfs:label "RLBP1" ; @@ -66573,13 +68233,14 @@ OMIM:180090 a owl:Class ; PMID:9326942 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:136880 ; - oboInOwl:hasDbXref UMLS:C1419391 ; oboInOwl:hasExactSynonym "RLBP1", "cellular retinaldehyde-binding protein", "retinaldehyde-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6017 ; - skos:exactMatch HGNC_symbol:RLBP1 ; + skos:exactMatch UMLS:C1419391, + HGNC:10024, + HGNC_symbol:RLBP1 ; biolink:category biolink:Gene . OMIM:180102 a owl:Class ; @@ -66599,14 +68260,15 @@ OMIM:180190 a owl:Class ; PMID:2172793, PMID:2546152, PMID:2555161 ; - oboInOwl:hasDbXref UMLS:C1419272, - UMLS:C3277465 ; oboInOwl:hasExactSynonym "RARG", "rarg/nup98 fusion gene", "retinoic acid receptor, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5916 ; - skos:exactMatch HGNC_symbol:RARG ; + skos:exactMatch UMLS:C1419272, + UMLS:C3277465, + HGNC:9866, + HGNC_symbol:RARG ; biolink:category biolink:Gene . OMIM:180200 a owl:Class ; @@ -66815,10 +68477,10 @@ OMIM:180200 a owl:Class ; PMID:9497263, PMID:975871, PMID:980006 ; - oboInOwl:hasDbXref UMLS:C0035335 ; oboInOwl:hasExactSynonym "RB1", "rb", "retinoblastoma" ; + skos:exactMatch UMLS:C0035335 ; biolink:category biolink:Disease . OMIM:180201 a owl:Class ; @@ -66830,14 +68492,15 @@ OMIM:180201 a owl:Class ; PMID:18211900, PMID:1857421, PMID:8414517 ; - oboInOwl:hasDbXref UMLS:C1419287 ; oboInOwl:hasExactSynonym "ARID4A", "arid-containing protein 4a", "at-rich interaction domain-containing protein 4a", "retinoblastoma-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5926 ; - skos:exactMatch HGNC_symbol:ARID4A ; + skos:exactMatch UMLS:C1419287, + HGNC:9885, + HGNC_symbol:ARID4A ; biolink:category biolink:Gene . OMIM:180202 a owl:Class ; @@ -66853,7 +68516,6 @@ OMIM:180202 a owl:Class ; PMID:8414517, PMID:8530100, PMID:9129143 ; - oboInOwl:hasDbXref UMLS:C1419288 ; oboInOwl:hasExactSynonym "KDM5A", "jumonji, at-rich interactive domain 1a", "lysine demethylase 5a", @@ -66861,7 +68523,9 @@ OMIM:180202 a owl:Class ; "retinoblastoma-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5927 ; - skos:exactMatch HGNC_symbol:KDM5A ; + skos:exactMatch UMLS:C1419288, + HGNC:9886, + HGNC_symbol:KDM5A ; biolink:category biolink:Gene . OMIM:180203 a owl:Class ; @@ -66875,7 +68539,6 @@ OMIM:180203 a owl:Class ; PMID:8643454 ; RO:0002525 CHR:9606chr16q12.2 ; RO:0003303 OMIM:619690 ; - oboInOwl:hasDbXref UMLS:C1335602 ; oboInOwl:hasExactSynonym "RBL2", "p130", "rb transcriptional corepressor-like 2", @@ -66883,16 +68546,18 @@ OMIM:180203 a owl:Class ; "retinoblastoma-related gene rb2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5934 ; - skos:exactMatch HGNC_symbol:RBL2 ; + skos:exactMatch UMLS:C1335602, + HGNC:9894, + HGNC_symbol:RBL2 ; biolink:category biolink:Gene . OMIM:180210 a owl:Class ; rdfs:label "retinopathy, pericentral pigmentary, dominant" ; IAO:0000142 PMID:3189470, PMID:3618160 ; - oboInOwl:hasDbXref UMLS:C1867261, - ORPHA:791 ; - oboInOwl:hasExactSynonym "retinopathy, pericentral pigmentary, dominant" . + oboInOwl:hasExactSynonym "retinopathy, pericentral pigmentary, dominant" ; + skos:exactMatch UMLS:C1867261, + ORPHA:791 . OMIM:180220 a owl:Class ; rdfs:label "RARB" ; @@ -66914,7 +68579,6 @@ OMIM:180220 a owl:Class ; PMID:9452386 ; RO:0002525 CHR:9606chr3p24.2 ; RO:0003303 OMIM:615524 ; - oboInOwl:hasDbXref UMLS:C1335591 ; oboInOwl:hasExactSynonym "RARB", "hbv-activated protein", "hepatitis B virus activated protein, hap", @@ -66923,7 +68587,9 @@ OMIM:180220 a owl:Class ; "retinoic acid receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5915 ; - skos:exactMatch HGNC_symbol:RARB ; + skos:exactMatch UMLS:C1335591, + HGNC:9865, + HGNC_symbol:RARB ; biolink:category biolink:Gene . OMIM:180230 a owl:Class ; @@ -66933,14 +68599,15 @@ OMIM:180230 a owl:Class ; PMID:18000064, PMID:2825608, PMID:9154115 ; - oboInOwl:hasDbXref UMLS:C1413697 ; oboInOwl:hasExactSynonym "CRABP1", "crabp", "retinoic acid-binding protein 5", "retinoic acid-binding protein, cellular, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1381 ; - skos:exactMatch HGNC_symbol:CRABP1 ; + skos:exactMatch UMLS:C1413697, + HGNC:2338, + HGNC_symbol:CRABP1 ; biolink:category biolink:Gene . OMIM:180231 a owl:Class ; @@ -66949,12 +68616,13 @@ OMIM:180231 a owl:Class ; PMID:1321791, PMID:2166951, PMID:9154115 ; - oboInOwl:hasDbXref UMLS:C1413698 ; oboInOwl:hasExactSynonym "CRABP2", "retinoic acid-binding protein, cellular, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1382 ; - skos:exactMatch HGNC_symbol:CRABP2 ; + skos:exactMatch UMLS:C1413698, + HGNC:2339, + HGNC_symbol:CRABP2 ; biolink:category biolink:Gene . OMIM:180240 a owl:Class ; @@ -67005,8 +68673,6 @@ OMIM:180240 a owl:Class ; PMID:9486655 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:612376 ; - oboInOwl:hasDbXref UMLS:C1366536, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "RARA", "acute promyelocytic leukemia breakpoint cluster region", "rar, alpha form", @@ -67017,7 +68683,10 @@ OMIM:180240 a owl:Class ; "retinoic acid receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5914 ; - skos:exactMatch HGNC_symbol:RARA ; + skos:exactMatch UMLS:C1366536, + UMLS:C2986382, + HGNC:9864, + HGNC_symbol:RARA ; biolink:category biolink:Gene . OMIM:180245 a owl:Class ; @@ -67045,12 +68714,13 @@ OMIM:180245 a owl:Class ; PMID:8034312, PMID:8257089, PMID:8823298 ; - oboInOwl:hasDbXref UMLS:C1456392 ; oboInOwl:hasExactSynonym "RXRA", "retinoid 10 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6256 ; - skos:exactMatch HGNC_symbol:RXRA ; + skos:exactMatch UMLS:C1456392, + HGNC:10477, + HGNC_symbol:RXRA ; biolink:category biolink:Gene . OMIM:180246 a owl:Class ; @@ -67064,12 +68734,13 @@ OMIM:180246 a owl:Class ; PMID:8257090, PMID:8381386, PMID:9405615 ; - oboInOwl:hasDbXref UMLS:C1456393 ; oboInOwl:hasExactSynonym "RXRB", "retinoid 10 receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6257 ; - skos:exactMatch HGNC_symbol:RXRB ; + skos:exactMatch UMLS:C1456393, + HGNC:10478, + HGNC_symbol:RXRB ; biolink:category biolink:Gene . OMIM:180247 a owl:Class ; @@ -67080,13 +68751,14 @@ OMIM:180247 a owl:Class ; PMID:1358808, PMID:8034312, PMID:9405615 ; - oboInOwl:hasDbXref UMLS:C1456394 ; oboInOwl:hasExactSynonym "RXRG", "retinoid 10 receptor, gamma", "rxrc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6258 ; - skos:exactMatch HGNC_symbol:RXRG ; + skos:exactMatch UMLS:C1456394, + HGNC:10479, + HGNC_symbol:RXRG ; biolink:category biolink:Gene . OMIM:180250 a owl:Class ; @@ -67110,13 +68782,14 @@ OMIM:180250 a owl:Class ; PMID:9888420 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:615147 ; - oboInOwl:hasDbXref UMLS:C1419320 ; oboInOwl:hasExactSynonym "RBP4", "retinol-binding protein 4", "retinol-binding protein, plasma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5950 ; - skos:exactMatch HGNC_symbol:RBP4 ; + skos:exactMatch UMLS:C1419320, + HGNC:9922, + HGNC_symbol:RBP4 ; biolink:category biolink:Gene . OMIM:180260 a owl:Class ; @@ -67129,7 +68802,6 @@ OMIM:180260 a owl:Class ; PMID:3356192, PMID:3802925, PMID:9858824 ; - oboInOwl:hasDbXref UMLS:C1419317 ; oboInOwl:hasExactSynonym "RBP1", "cellular retinol-binding protein", "cellular retinol-binding protein 1", @@ -67138,19 +68810,20 @@ OMIM:180260 a owl:Class ; "retinol-binding protein, cellular" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5947 ; - skos:exactMatch HGNC_symbol:RBP1 ; + skos:exactMatch UMLS:C1419317, + HGNC:9919, + HGNC_symbol:RBP1 ; biolink:category biolink:Gene . OMIM:180270 a owl:Class ; rdfs:label "retinoschisis, autosomal dominant" ; IAO:0000142 PMID:7124876 ; - oboInOwl:hasDbXref UMLS:C1867235 ; - oboInOwl:hasExactSynonym "retinoschisis, autosomal dominant" . + oboInOwl:hasExactSynonym "retinoschisis, autosomal dominant" ; + skos:exactMatch UMLS:C1867235 . OMIM:180280 a owl:Class ; rdfs:label "RBP2" ; IAO:0000142 PMID:3029082 ; - oboInOwl:hasDbXref UMLS:C1419318 ; oboInOwl:hasExactSynonym "RBP2", "cellular retinol-binding protein 2", "crbpii", @@ -67158,7 +68831,9 @@ OMIM:180280 a owl:Class ; "retinol-binding protein, cellular, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5948 ; - skos:exactMatch HGNC_symbol:RBP2 ; + skos:exactMatch UMLS:C1419318, + HGNC:9920, + HGNC_symbol:RBP2 ; biolink:category biolink:Gene . OMIM:180290 a owl:Class ; @@ -67178,14 +68853,15 @@ OMIM:180290 a owl:Class ; PMID:9614228 ; RO:0002525 CHR:9606chr10q11.22 ; RO:0003303 OMIM:615233 ; - oboInOwl:hasDbXref UMLS:C1419319 ; oboInOwl:hasExactSynonym "RBP3", "interstitial retinol-binding protein", "retinol-binding protein 3", "retinol-binding protein, interstitial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5949 ; - skos:exactMatch HGNC_symbol:RBP3 ; + skos:exactMatch UMLS:C1419319, + HGNC:9921, + HGNC_symbol:RBP3 ; biolink:category biolink:Gene . OMIM:180297 a owl:Class ; @@ -67217,14 +68893,15 @@ OMIM:180297 a owl:Class ; PMID:9915949 ; RO:0002525 CHR:9606chr6p12.3 ; RO:0003303 OMIM:185000 ; - oboInOwl:hasDbXref UMLS:C1419379 ; oboInOwl:hasExactSynonym "RHAG", "rh2", "rhesus associated polypeptide, 50-kd", "rhesus blood group-associated glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6005 ; - skos:exactMatch HGNC_symbol:RHAG ; + skos:exactMatch UMLS:C1419379, + HGNC:10006, + HGNC_symbol:RHAG ; biolink:category biolink:Gene . OMIM:180330 a owl:Class ; @@ -67233,14 +68910,14 @@ OMIM:180330 a owl:Class ; OMIM:180350 a owl:Class ; rdfs:label "rheumatoid nodulosis" ; IAO:0000142 PMID:490522 ; - oboInOwl:hasDbXref UMLS:C0035450 ; - oboInOwl:hasExactSynonym "rheumatoid nodulosis" . + oboInOwl:hasExactSynonym "rheumatoid nodulosis" ; + skos:exactMatch UMLS:C0035450 . OMIM:180360 a owl:Class ; rdfs:label "rhiny" ; IAO:0000142 PMID:1897582 ; - oboInOwl:hasDbXref UMLS:C1867222 ; - oboInOwl:hasExactSynonym "rhiny" . + oboInOwl:hasExactSynonym "rhiny" ; + skos:exactMatch UMLS:C1867222 . OMIM:180370 a owl:Class ; rdfs:label "TST" ; @@ -67252,13 +68929,14 @@ OMIM:180370 a owl:Class ; PMID:6928732, PMID:711738, PMID:9070219 ; - oboInOwl:hasDbXref UMLS:C1421210 ; oboInOwl:hasExactSynonym "TST", "rhodanese", "thiosulfate sulfurtransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7263 ; - skos:exactMatch HGNC_symbol:TST ; + skos:exactMatch UMLS:C1421210, + HGNC:12388, + HGNC_symbol:TST ; biolink:category biolink:Gene . OMIM:180381 a owl:Class ; @@ -67271,7 +68949,6 @@ OMIM:180381 a owl:Class ; PMID:9419375 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:613411 ; - oboInOwl:hasDbXref UMLS:C1335620 ; oboInOwl:hasExactSynonym "GRK1", "g protein-coupled receptor kinase 1", "gprk1", @@ -67279,21 +68956,24 @@ OMIM:180381 a owl:Class ; "rk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6011 ; - skos:exactMatch HGNC_symbol:GRK1 ; + skos:exactMatch UMLS:C1335620, + HGNC:10013, + HGNC_symbol:GRK1 ; biolink:category biolink:Gene . OMIM:180386 a owl:Class ; rdfs:label "LMO3" ; IAO:0000142 PMID:11489251, PMID:2034676 ; - oboInOwl:hasDbXref UMLS:C1416882 ; oboInOwl:hasExactSynonym "LMO3", "lim domain only 3", "rhombotin 3", "rhombotin-like-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55885 ; - skos:exactMatch HGNC_symbol:LMO3 ; + skos:exactMatch UMLS:C1416882, + HGNC:6643, + HGNC_symbol:LMO3 ; biolink:category biolink:Gene . OMIM:180390 a owl:Class ; @@ -67302,7 +68982,6 @@ OMIM:180390 a owl:Class ; PMID:1627826, PMID:3311968, PMID:8188248 ; - oboInOwl:hasDbXref UMLS:C1335649 ; oboInOwl:hasExactSynonym "RRM2", "ribonucleotide reductase regulatory subunit m2", "ribonucleotide reductase, m2 subunit", @@ -67310,7 +68989,9 @@ OMIM:180390 a owl:Class ; "ribonucleotide reductase, small subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6241 ; - skos:exactMatch HGNC_symbol:RRM2 ; + skos:exactMatch UMLS:C1335649, + HGNC:10452, + HGNC_symbol:RRM2 ; biolink:category biolink:Gene . OMIM:180410 a owl:Class ; @@ -67323,7 +69004,6 @@ OMIM:180410 a owl:Class ; PMID:7557993, PMID:8188248, PMID:8386696 ; - oboInOwl:hasDbXref UMLS:C1335648 ; oboInOwl:hasExactSynonym "RRM1", "ribonucleotide reductase catalytic subunit m1", "ribonucleotide reductase, large subunit", @@ -67331,7 +69011,9 @@ OMIM:180410 a owl:Class ; "ribonucleotide reductase, r1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6240 ; - skos:exactMatch HGNC_symbol:RRM1 ; + skos:exactMatch UMLS:C1335648, + HGNC:10451, + HGNC_symbol:RRM1 ; biolink:category biolink:Gene . OMIM:180420 a owl:Class ; @@ -67347,11 +69029,11 @@ OMIM:180420 a owl:Class ; PMID:7390485, PMID:7736795, PMID:8162702 ; - oboInOwl:hasDbXref UMLS:C1419397 ; oboInOwl:hasExactSynonym "5s rrna cluster 1", "RN5S1@", "rna, 5s ribosomal, gene cluster 1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1419397 ; biolink:category biolink:Gene . OMIM:180430 a owl:Class ; @@ -67364,14 +69046,15 @@ OMIM:180430 a owl:Class ; PMID:7758956 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:608611 ; - oboInOwl:hasDbXref UMLS:C1291609, - UMLS:C1419625 ; oboInOwl:hasExactSynonym "RPIA", "ribose 5-phosphate isomerase a", "rpi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22934 ; - skos:exactMatch HGNC_symbol:RPIA ; + skos:exactMatch UMLS:C1291609, + UMLS:C1419625, + HGNC:10297, + HGNC_symbol:RPIA ; biolink:category biolink:Gene . OMIM:180435 a owl:Class ; @@ -67389,7 +69072,6 @@ OMIM:180435 a owl:Class ; PMID:9351818 ; RO:0002525 CHR:9606chr1q25.3 ; RO:0003303 OMIM:601518 ; - oboInOwl:hasDbXref UMLS:C1419413 ; oboInOwl:hasExactSynonym "RNASEL", "interferon-induced 2-5a-dependent rnase", "ribonuclease 4", @@ -67397,7 +69079,9 @@ OMIM:180435 a owl:Class ; "ribonuclease, 2-5a-dependent, interferon-induced" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6041 ; - skos:exactMatch HGNC_symbol:RNASEL ; + skos:exactMatch UMLS:C1419413, + HGNC:10050, + HGNC_symbol:RNASEL ; biolink:category biolink:Gene . OMIM:180440 a owl:Class ; @@ -67407,7 +69091,6 @@ OMIM:180440 a owl:Class ; PMID:11925568, PMID:3013507, PMID:8049276 ; - oboInOwl:hasDbXref UMLS:C1419407 ; oboInOwl:hasExactSynonym "RNASE1", "rib1", "ribonuclease, pancreatic", @@ -67415,7 +69098,9 @@ OMIM:180440 a owl:Class ; "rns1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6035 ; - skos:exactMatch HGNC_symbol:RNASE1 ; + skos:exactMatch UMLS:C1419407, + HGNC:10044, + HGNC_symbol:RNASE1 ; biolink:category biolink:Gene . OMIM:180450 a owl:Class ; @@ -67434,52 +69119,57 @@ OMIM:180450 a owl:Class ; PMID:6954460, PMID:7201973, PMID:7649552 ; - oboInOwl:hasDbXref UMLS:C1335630 ; oboInOwl:hasExactSynonym "RNR1", "ribosomal RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6052 ; - skos:exactMatch HGNC_symbol:RNR1 ; + skos:exactMatch UMLS:C1335630, + HGNC:10082, + HGNC_symbol:RNR1 ; biolink:category biolink:Gene . OMIM:180451 a owl:Class ; rdfs:label "RNR2" ; - oboInOwl:hasDbXref UMLS:C1419437 ; oboInOwl:hasExactSynonym "RNR2", "ribosomal RNA 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6053 ; - skos:exactMatch HGNC_symbol:RNR2 ; + skos:exactMatch UMLS:C1419437, + HGNC:10083, + HGNC_symbol:RNR2 ; biolink:category biolink:Gene . OMIM:180452 a owl:Class ; rdfs:label "RNR3" ; - oboInOwl:hasDbXref UMLS:C1419438 ; oboInOwl:hasExactSynonym "RNR3", "ribosomal RNA 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6054 ; - skos:exactMatch HGNC_symbol:RNR3 ; + skos:exactMatch UMLS:C1419438, + HGNC:10084, + HGNC_symbol:RNR3 ; biolink:category biolink:Gene . OMIM:180453 a owl:Class ; rdfs:label "RNR4" ; - oboInOwl:hasDbXref UMLS:C1419439 ; oboInOwl:hasExactSynonym "RNR4", "ribosomal RNA 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6055 ; - skos:exactMatch HGNC_symbol:RNR4 ; + skos:exactMatch UMLS:C1419439, + HGNC:10085, + HGNC_symbol:RNR4 ; biolink:category biolink:Gene . OMIM:180454 a owl:Class ; rdfs:label "RNR5" ; - oboInOwl:hasDbXref UMLS:C1419440 ; oboInOwl:hasExactSynonym "RNR5", "ribosomal RNA 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6056 ; - skos:exactMatch HGNC_symbol:RNR5 ; + skos:exactMatch UMLS:C1419440, + HGNC:10086, + HGNC_symbol:RNR5 ; biolink:category biolink:Gene . OMIM:180460 a owl:Class ; @@ -67492,12 +69182,13 @@ OMIM:180460 a owl:Class ; PMID:2840355, PMID:3279029, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419741 ; oboInOwl:hasExactSynonym "RPS6", "ribosomal protein s6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6194 ; - skos:exactMatch HGNC_symbol:RPS6 ; + skos:exactMatch UMLS:C1419741, + HGNC:10429, + HGNC_symbol:RPS6 ; biolink:category biolink:Gene . OMIM:180461 a owl:Class ; @@ -67511,23 +69202,25 @@ OMIM:180462 a owl:Class ; OMIM:180463 a owl:Class ; rdfs:label "RPS20A" ; IAO:0000142 PMID:3459254 ; - oboInOwl:hasDbXref UMLS:C1419720 ; oboInOwl:hasExactSynonym "RPS20A", "ribosomal protein s20a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6225 ; - skos:exactMatch HGNC_symbol:RPS20P3 ; + skos:exactMatch UMLS:C1419720, + HGNC:10406, + HGNC_symbol:RPS20P3 ; biolink:category biolink:Gene . OMIM:180464 a owl:Class ; rdfs:label "RPS20B" ; IAO:0000142 PMID:3459254 ; - oboInOwl:hasDbXref UMLS:C1419721 ; oboInOwl:hasExactSynonym "RPS20B", "ribosomal protein s20b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6226 ; - skos:exactMatch HGNC_symbol:RPS20P4 ; + skos:exactMatch UMLS:C1419721, + HGNC:10407, + HGNC_symbol:RPS20P4 ; biolink:category biolink:Gene . OMIM:180465 a owl:Class ; @@ -67536,12 +69229,13 @@ OMIM:180465 a owl:Class ; PMID:8020948, PMID:8406452, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419727 ; oboInOwl:hasExactSynonym "RPS25", "ribosomal protein s25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6230 ; - skos:exactMatch HGNC_symbol:RPS25 ; + skos:exactMatch UMLS:C1419727, + HGNC:10413, + HGNC_symbol:RPS25 ; biolink:category biolink:Gene . OMIM:180466 a owl:Class ; @@ -67550,23 +69244,25 @@ OMIM:180466 a owl:Class ; PMID:2771953, PMID:3459254, PMID:7789970 ; - oboInOwl:hasDbXref UMLS:C1335637 ; oboInOwl:hasExactSynonym "RPL19", "ribosomal protein l19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6143 ; - skos:exactMatch HGNC_symbol:RPL19 ; + skos:exactMatch UMLS:C1335637, + HGNC:10312, + HGNC_symbol:RPL19 ; biolink:category biolink:Gene . OMIM:180467 a owl:Class ; rdfs:label "RPL30" ; IAO:0000142 PMID:1577483 ; - oboInOwl:hasDbXref UMLS:C1419656 ; oboInOwl:hasExactSynonym "RPL30", "ribosomal protein l30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6156 ; - skos:exactMatch HGNC_symbol:RPL30 ; + skos:exactMatch UMLS:C1419656, + HGNC:10333, + HGNC_symbol:RPL30 ; biolink:category biolink:Gene . OMIM:180468 a owl:Class ; @@ -67577,24 +69273,26 @@ OMIM:180468 a owl:Class ; PMID:8786106 ; RO:0002525 CHR:9606chr3q29 ; RO:0003303 OMIM:612528 ; - oboInOwl:hasDbXref UMLS:C1419668 ; oboInOwl:hasExactSynonym "RPL35A", "ribosomal protein l35a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6165 ; - skos:exactMatch HGNC_symbol:RPL35A ; + skos:exactMatch UMLS:C1419668, + HGNC:10345, + HGNC_symbol:RPL35A ; biolink:category biolink:Gene . OMIM:180469 a owl:Class ; rdfs:label "RPL36AL" ; IAO:0000142 PMID:1577483 ; - oboInOwl:hasDbXref UMLS:C1419669 ; oboInOwl:hasExactSynonym "RPL36AL", "ribosomal protein l36a", "ribosomal protein l36a-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6166 ; - skos:exactMatch HGNC_symbol:RPL36AL ; + skos:exactMatch UMLS:C1419669, + HGNC:10346, + HGNC_symbol:RPL36AL ; biolink:category biolink:Gene . OMIM:180470 a owl:Class ; @@ -67605,14 +69303,15 @@ OMIM:180470 a owl:Class ; PMID:26912900, PMID:3034581, PMID:9307271 ; - oboInOwl:hasDbXref UMLS:C1419697 ; oboInOwl:hasExactSynonym "RPN1", "rbph1", "rbph1/evi1 fusion gene", "ribophorin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6184 ; - skos:exactMatch HGNC_symbol:RPN1 ; + skos:exactMatch UMLS:C1419697, + HGNC:10381, + HGNC_symbol:RPN1 ; biolink:category biolink:Gene . OMIM:180471 a owl:Class ; @@ -67620,24 +69319,26 @@ OMIM:180471 a owl:Class ; IAO:0000142 PMID:1577483, PMID:3267208, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419700 ; oboInOwl:hasExactSynonym "RPS11", "ribosomal protein s11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6205 ; - skos:exactMatch HGNC_symbol:RPS11 ; + skos:exactMatch UMLS:C1419700, + HGNC:10384, + HGNC_symbol:RPS11 ; biolink:category biolink:Gene . OMIM:180473 a owl:Class ; rdfs:label "RPS18" ; IAO:0000142 PMID:8441687, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419717 ; oboInOwl:hasExactSynonym "RPS18", "ribosomal protein s18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6222 ; - skos:exactMatch HGNC_symbol:RPS18 ; + skos:exactMatch UMLS:C1419717, + HGNC:10401, + HGNC_symbol:RPS18 ; biolink:category biolink:Gene . OMIM:180474 a owl:Class ; @@ -67647,25 +69348,27 @@ OMIM:180474 a owl:Class ; PMID:22976955, PMID:7795214, PMID:8395054 ; - oboInOwl:hasDbXref UMLS:C1419639 ; oboInOwl:hasExactSynonym "RPL22", "epstein-barr associated protein", "ribosomal protein l22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6146 ; - skos:exactMatch HGNC_symbol:RPL22 ; + skos:exactMatch UMLS:C1419639, + HGNC:10315, + HGNC_symbol:RPL22 ; biolink:category biolink:Gene . OMIM:180475 a owl:Class ; rdfs:label "RPL12" ; IAO:0000142 PMID:16254077, PMID:8441690 ; - oboInOwl:hasDbXref UMLS:C1419629 ; oboInOwl:hasExactSynonym "RPL12", "ribosomal protein l12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6136 ; - skos:exactMatch HGNC_symbol:RPL12 ; + skos:exactMatch UMLS:C1419629, + HGNC:10302, + HGNC_symbol:RPL12 ; biolink:category biolink:Gene . OMIM:180476 a owl:Class ; @@ -67673,24 +69376,26 @@ OMIM:180476 a owl:Class ; IAO:0000142 PMID:11306805, PMID:8332508, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419702 ; oboInOwl:hasExactSynonym "RPS13", "ribosomal protein s13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6207 ; - skos:exactMatch HGNC_symbol:RPS13 ; + skos:exactMatch UMLS:C1419702, + HGNC:10386, + HGNC_symbol:RPS13 ; biolink:category biolink:Gene . OMIM:180477 a owl:Class ; rdfs:label "RPS21" ; IAO:0000142 PMID:8332502, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419723 ; oboInOwl:hasExactSynonym "RPS21", "ribosomal protein s21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6227 ; - skos:exactMatch HGNC_symbol:RPS21 ; + skos:exactMatch UMLS:C1419723, + HGNC:10409, + HGNC_symbol:RPS21 ; biolink:category biolink:Gene . OMIM:180478 a owl:Class ; @@ -67701,24 +69406,26 @@ OMIM:180478 a owl:Class ; PMID:8877097, PMID:9573378, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419733 ; oboInOwl:hasExactSynonym "RPS3A", "ribosomal protein s3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6189 ; - skos:exactMatch HGNC_symbol:RPS3A ; + skos:exactMatch UMLS:C1419733, + HGNC:10421, + HGNC_symbol:RPS3A ; biolink:category biolink:Gene . OMIM:180479 a owl:Class ; rdfs:label "RPL4" ; IAO:0000142 PMID:8268230, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419676 ; oboInOwl:hasExactSynonym "RPL4", "ribosomal protein l4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6124 ; - skos:exactMatch HGNC_symbol:RPL4 ; + skos:exactMatch UMLS:C1419676, + HGNC:10353, + HGNC_symbol:RPL4 ; biolink:category biolink:Gene . OMIM:180480 a owl:Class ; @@ -67728,12 +69435,13 @@ OMIM:180480 a owl:Class ; PMID:6957283, PMID:6984632, PMID:7396409 ; - oboInOwl:hasDbXref UMLS:C1419621 ; oboInOwl:hasExactSynonym "RPE", "ribulose 5-phosphate 3-epimerase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6120 ; - skos:exactMatch HGNC_symbol:RPE ; + skos:exactMatch UMLS:C1419621, + HGNC:10293, + HGNC_symbol:RPE ; biolink:category biolink:Gene . OMIM:180490 a owl:Class ; @@ -67742,12 +69450,13 @@ OMIM:180490 a owl:Class ; PMID:18724378, PMID:2066112, PMID:3034581 ; - oboInOwl:hasDbXref UMLS:C1419698 ; oboInOwl:hasExactSynonym "RPN2", "ribophorin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6185 ; - skos:exactMatch HGNC_symbol:RPN2 ; + skos:exactMatch UMLS:C1419698, + HGNC:10382, + HGNC_symbol:RPN2 ; biolink:category biolink:Gene . OMIM:180500 a owl:Class ; @@ -67783,52 +69492,55 @@ OMIM:180500 a owl:Class ; PMID:8942889, PMID:8944018, PMID:9132488 ; - oboInOwl:hasDbXref UMLS:C3714873 ; oboInOwl:hasExactSynonym "RIEG1", "axenfeld-rieger syndrome, iia 1", "rgs", "rieg", "rieger syndrome, iia 1" ; rdfs:subClassOf OMIMPS:180500 ; + skos:exactMatch UMLS:C3714873 ; biolink:category biolink:Disease . OMIM:180510 a owl:Class ; rdfs:label "RPLP0" ; IAO:0000142 PMID:12862317, PMID:3323886 ; - oboInOwl:hasDbXref UMLS:C1419691 ; oboInOwl:hasExactSynonym "RPLP0", "ribosomal phosphoprotein, acidic, p0", "ribosomal phosphoprotein, large, p0", "ribosomal protein lateral stalk subunit p0" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6175 ; - skos:exactMatch HGNC_symbol:RPLP0 ; + skos:exactMatch UMLS:C1419691, + HGNC:10371, + HGNC_symbol:RPLP0 ; biolink:category biolink:Gene . OMIM:180520 a owl:Class ; rdfs:label "RPLP1" ; IAO:0000142 PMID:3323886 ; - oboInOwl:hasDbXref UMLS:C1419692 ; oboInOwl:hasExactSynonym "RPLP1", "ribosomal phosphoprotein, acidic, p1", "ribosomal phosphoprotein, large, p1", "ribosomal protein lateral stalk subunit p1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6176 ; - skos:exactMatch HGNC_symbol:RPLP1 ; + skos:exactMatch UMLS:C1419692, + HGNC:10372, + HGNC_symbol:RPLP1 ; biolink:category biolink:Gene . OMIM:180530 a owl:Class ; rdfs:label "RPLP2" ; - oboInOwl:hasDbXref UMLS:C1419693 ; oboInOwl:hasExactSynonym "RPLP2", "ribosomal phosphoprotein, acidic, p2", "ribosomal phosphoprotein, large, p2", "ribosomal protein lateral stalk subunit p2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6181 ; - skos:exactMatch HGNC_symbol:RPLP2 ; + skos:exactMatch UMLS:C1419693, + HGNC:10377, + HGNC_symbol:RPLP2 ; biolink:category biolink:Gene . OMIM:180535 a owl:Class ; @@ -67839,13 +69551,14 @@ OMIM:180535 a owl:Class ; PMID:2821540, PMID:29186115, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419704 ; oboInOwl:hasExactSynonym "RPS15", "rat insulinoma gene homolog", "ribosomal protein s15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6209 ; - skos:exactMatch HGNC_symbol:RPS15 ; + skos:exactMatch UMLS:C1419704, + HGNC:10388, + HGNC_symbol:RPS15 ; biolink:category biolink:Gene . OMIM:180540 a owl:Class ; @@ -67857,22 +69570,23 @@ OMIM:180600 a owl:Class ; IAO:0000142 PMID:15422119, PMID:15610516, PMID:5697235 ; - oboInOwl:hasDbXref UMLS:C0263489 ; oboInOwl:hasExactSynonym "pili annulati", "ringed hair" ; + skos:exactMatch UMLS:C0263489 ; biolink:category biolink:Disease . OMIM:180610 a owl:Class ; rdfs:label "RLF" ; IAO:0000142 PMID:1649386, PMID:1851085 ; - oboInOwl:hasDbXref UMLS:C1419392 ; oboInOwl:hasExactSynonym "RLF", "rearranged lmyc fusion", "rlf protein involved 1n activation of lmyc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6018 ; - skos:exactMatch HGNC_symbol:RLF ; + skos:exactMatch UMLS:C1419392, + HGNC:10025, + HGNC_symbol:RLF ; biolink:category biolink:Gene . OMIM:180620 a owl:Class ; @@ -67881,7 +69595,6 @@ OMIM:180620 a owl:Class ; PMID:6308668, PMID:6324100, PMID:6923137 ; - oboInOwl:hasDbXref UMLS:C1421159 ; oboInOwl:hasExactSynonym "TRX-CAT2-1", "rna, transfer, methionine initiator, 2", "transfer RNA methionine 2", @@ -67890,7 +69603,9 @@ OMIM:180620 a owl:Class ; "trna-imet (anticodon cat) 2-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7212 ; - skos:exactMatch HGNC_symbol:TRX-CAT2-1 ; + skos:exactMatch UMLS:C1421159, + HGNC:12322, + HGNC_symbol:TRX-CAT2-1 ; biolink:category biolink:Gene . OMIM:180630 a owl:Class ; @@ -67903,7 +69618,6 @@ OMIM:180630 a owl:Class ; PMID:26675721, PMID:2762324, PMID:7774924 ; - oboInOwl:hasDbXref UMLS:C1413963 ; oboInOwl:hasExactSynonym "DDX5", "RNA helicase, 68-kd", "dead-box helicase 5", @@ -67914,13 +69628,14 @@ OMIM:180630 a owl:Class ; "rna-dependent atpase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1655 ; - skos:exactMatch HGNC_symbol:DDX5 ; + skos:exactMatch UMLS:C1413963, + HGNC:2746, + HGNC_symbol:DDX5 ; biolink:category biolink:Gene . OMIM:180640 a owl:Class ; rdfs:label "TRE-TTC3-1" ; IAO:0000142 PMID:2912885 ; - oboInOwl:hasDbXref UMLS:C1421113 ; oboInOwl:hasExactSynonym "TRE-TTC3-1", "transfer RNA glutamic acid", "trna glutamic acid", @@ -67929,7 +69644,9 @@ OMIM:180640 a owl:Class ; "trne" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7193 ; - skos:exactMatch HGNC_symbol:TRE-TTC3-1 ; + skos:exactMatch UMLS:C1421113, + HGNC:12265, + HGNC_symbol:TRE-TTC3-1 ; biolink:category biolink:Gene . OMIM:180645 a owl:Class ; @@ -67938,7 +69655,6 @@ OMIM:180645 a owl:Class ; PMID:8415643, PMID:8421699, PMID:9671460 ; - oboInOwl:hasDbXref UMLS:C1419462 ; oboInOwl:hasExactSynonym "SNORA73A", "rna, small nucleolar e1", "rna, u17a small nucleolar", @@ -67946,14 +69662,15 @@ OMIM:180645 a owl:Class ; "snorna, u17a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6080 ; - skos:exactMatch HGNC_symbol:SNORA73A ; + skos:exactMatch UMLS:C1419462, + HGNC:10115, + HGNC_symbol:SNORA73A ; biolink:category biolink:Gene . OMIM:180646 a owl:Class ; rdfs:label "SNORA62" ; IAO:0000142 PMID:7574504, PMID:8586453 ; - oboInOwl:hasDbXref UMLS:C1419454 ; oboInOwl:hasExactSynonym "SNORA62", "rna, e2 small nucleolar", "rna, u108 small nucleolar", @@ -67961,14 +69678,15 @@ OMIM:180646 a owl:Class ; "snorna, e2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6044 ; - skos:exactMatch HGNC_symbol:SNORA62 ; + skos:exactMatch UMLS:C1419454, + HGNC:10107, + HGNC_symbol:SNORA62 ; biolink:category biolink:Gene . OMIM:180647 a owl:Class ; rdfs:label "SNORA63" ; IAO:0000142 PMID:8415643, PMID:8421699 ; - oboInOwl:hasDbXref UMLS:C1419453 ; oboInOwl:hasExactSynonym "SNORA63", "rna, e3 small nucleolar", "rna, u107 small nucleolar", @@ -67976,7 +69694,9 @@ OMIM:180647 a owl:Class ; "snorna, e3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6043 ; - skos:exactMatch HGNC_symbol:SNORA63 ; + skos:exactMatch UMLS:C1419453, + HGNC:10106, + HGNC_symbol:SNORA63 ; biolink:category biolink:Gene . OMIM:180660 a owl:Class ; @@ -68028,8 +69748,6 @@ OMIM:180660 a owl:Class ; PMID:9153302 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:618603 ; - oboInOwl:hasDbXref UMLS:C1335231, - UMLS:C5231423 ; oboInOwl:hasExactSynonym "POLR2A", "RNA polymerase ii, 220-kd subunit", "RNA polymerase ii, large subunit", @@ -68037,7 +69755,10 @@ OMIM:180660 a owl:Class ; "rpb1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5430 ; - skos:exactMatch HGNC_symbol:POLR2A ; + skos:exactMatch UMLS:C1335231, + UMLS:C5231423, + HGNC:9187, + HGNC_symbol:POLR2A ; biolink:category biolink:Gene . OMIM:180661 a owl:Class ; @@ -68045,7 +69766,6 @@ OMIM:180661 a owl:Class ; IAO:0000142 PMID:1518060, PMID:22053051, PMID:8034326 ; - oboInOwl:hasDbXref UMLS:C1418739 ; oboInOwl:hasExactSynonym "POLR2B", "RNA polymerase ii, 140-kd subunit", "RNA polymerase ii, second largest subunit", @@ -68053,7 +69773,9 @@ OMIM:180661 a owl:Class ; "rpb2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5431 ; - skos:exactMatch HGNC_symbol:POLR2B ; + skos:exactMatch UMLS:C1418739, + HGNC:9188, + HGNC_symbol:POLR2B ; biolink:category biolink:Gene . OMIM:180662 a owl:Class ; @@ -68062,14 +69784,15 @@ OMIM:180662 a owl:Class ; PMID:8034326, PMID:8265347, PMID:8524256 ; - oboInOwl:hasDbXref UMLS:C1418747 ; oboInOwl:hasExactSynonym "POLR2I", "RNA polymerase ii, 14.5-kd subunit", "polymerase ii, rna, subunit 1", "rpb9, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5438 ; - skos:exactMatch HGNC_symbol:POLR2I ; + skos:exactMatch UMLS:C1418747, + HGNC:9196, + HGNC_symbol:POLR2I ; biolink:category biolink:Gene . OMIM:180663 a owl:Class ; @@ -68078,36 +69801,38 @@ OMIM:180663 a owl:Class ; PMID:8034326, PMID:9540830, PMID:9607318 ; - oboInOwl:hasDbXref UMLS:C1418740 ; oboInOwl:hasExactSynonym "POLR2C", "RNA polymerase ii, 33-kd subunit", "polymerase ii, rna, subunit c", "rpb3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5432 ; - skos:exactMatch HGNC_symbol:POLR2C ; + skos:exactMatch UMLS:C1418740, + HGNC:9189, + HGNC_symbol:POLR2C ; biolink:category biolink:Gene . OMIM:180664 a owl:Class ; rdfs:label "POLR2E" ; IAO:0000142 PMID:10784442, PMID:8034326 ; - oboInOwl:hasDbXref UMLS:C1418743 ; oboInOwl:hasExactSynonym "POLR2E", "RNA polymerase ii, 25-kd subunit", "polymerase ii, rna, subunit e", "rpb5, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5434 ; - skos:exactMatch HGNC_symbol:POLR2E ; + skos:exactMatch UMLS:C1418743, + HGNC:9192, + HGNC_symbol:POLR2E ; biolink:category biolink:Gene . OMIM:180670 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:388428 ; - oboInOwl:hasDbXref UMLS:C1867153 ; oboInOwl:hasExactSynonym "RNA polymerase 3 transcriptional units" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1867153 ; biolink:category biolink:Gene . OMIM:180690 a owl:Class ; @@ -68120,27 +69845,29 @@ OMIM:180690 a owl:Class ; PMID:6203126, PMID:7565778, PMID:9034341 ; - oboInOwl:hasDbXref UMLS:C1419489 ; oboInOwl:hasExactSynonym "RNU2-1", "rna, u2 small nuclear, 1", "snrna, u2 rna, u2 small nuclear, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6066 ; - skos:exactMatch HGNC_symbol:RNU2-1 ; + skos:exactMatch UMLS:C1419489, + HGNC:10142, + HGNC_symbol:RNU2-1 ; biolink:category biolink:Gene . OMIM:180691 a owl:Class ; rdfs:label "RNU5A" ; IAO:0000142 PMID:8266091, PMID:8266094 ; - oboInOwl:hasDbXref UMLS:C1419558 ; oboInOwl:hasExactSynonym "RNU5A", "rna, u5 small nuclear", "rna, u5a small nuclear", "snrna, u5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26831 ; - skos:exactMatch HGNC_symbol:RNU5A-1 ; + skos:exactMatch UMLS:C1419558, + HGNC:10211, + HGNC_symbol:RNU5A-1 ; biolink:category biolink:Gene . OMIM:180692 a owl:Class ; @@ -68154,7 +69881,6 @@ OMIM:180692 a owl:Class ; PMID:23190533, PMID:8266093, PMID:8266100 ; - oboInOwl:hasDbXref UMLS:C1419574 ; oboInOwl:hasExactSynonym "RNU6-1", "rna, u6 small nuclear", "rna, u6 small nuclear, 1", @@ -68162,7 +69888,9 @@ OMIM:180692 a owl:Class ; "snrna, u6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26827 ; - skos:exactMatch HGNC_symbol:RNU6-1 ; + skos:exactMatch UMLS:C1419574, + HGNC:10227, + HGNC_symbol:RNU6-1 ; biolink:category biolink:Gene . OMIM:180710 a owl:Class ; @@ -68171,14 +69899,15 @@ OMIM:180710 a owl:Class ; PMID:6165010, PMID:6186397, PMID:8401506 ; - oboInOwl:hasDbXref UMLS:C1822902 ; oboInOwl:hasExactSynonym "SNORD3A", "rna, u3 small nucleolar", "small nucleolar rna, c/d box, 3a", "snorna, u3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:780851 ; - skos:exactMatch HGNC_symbol:SNORD3A ; + skos:exactMatch UMLS:C1822902, + HGNC:33189, + HGNC_symbol:SNORD3A ; biolink:category biolink:Gene . OMIM:180720 a owl:Class ; @@ -68197,21 +69926,22 @@ OMIM:180721 a owl:Class ; PMID:8202715 ; RO:0002525 CHR:9606chr11q12.3 ; RO:0003303 OMIM:608133 ; - oboInOwl:hasDbXref UMLS:C1419600 ; oboInOwl:hasExactSynonym "ROM1", "rod outer segment protein 1", "rosp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6094 ; - skos:exactMatch HGNC_symbol:ROM1 ; + skos:exactMatch UMLS:C1419600, + HGNC:10254, + HGNC_symbol:ROM1 ; biolink:category biolink:Gene . OMIM:180730 a owl:Class ; rdfs:label "rombo syndrome" ; IAO:0000142 PMID:11422044, PMID:6177160 ; - oboInOwl:hasDbXref UMLS:C1867147 ; - oboInOwl:hasExactSynonym "rombo syndrome" . + oboInOwl:hasExactSynonym "rombo syndrome" ; + skos:exactMatch UMLS:C1867147 . OMIM:180740 a owl:Class ; rdfs:label "SNRNP70" ; @@ -68224,7 +69954,6 @@ OMIM:180740 a owl:Class ; PMID:2973606, PMID:30975767, PMID:32238924 ; - oboInOwl:hasDbXref UMLS:C1420282 ; oboInOwl:hasExactSynonym "SNRNP70", "ribonucleoprotein u1, small nuclear", "ribonucleoprotein u1, small nuclear, 70-kd", @@ -68234,7 +69963,9 @@ OMIM:180740 a owl:Class ; "snrp70" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6625 ; - skos:exactMatch HGNC_symbol:SNRNP70 ; + skos:exactMatch UMLS:C1420282, + HGNC:11150, + HGNC_symbol:SNRNP70 ; biolink:category biolink:Gene . OMIM:180750 a owl:Class ; @@ -68244,10 +69975,10 @@ OMIM:180750 a owl:Class ; PMID:7120316, PMID:7120317, PMID:8064818 ; - oboInOwl:hasDbXref UMLS:C1867146 ; oboInOwl:hasExactSynonym "acrocephalosyndactyly, robinow-sorauf iia", "craniosynostosis-bifid hallux syndrome", "robinow-sorauf syndrome" ; + skos:exactMatch UMLS:C1867146 ; biolink:category biolink:Disease . OMIM:180840 a owl:Class ; @@ -68266,17 +69997,17 @@ OMIM:180870 a owl:Class ; PMID:5567967, PMID:6489381, PMID:6517098 ; - oboInOwl:hasDbXref UMLS:C0265248 ; - oboInOwl:hasExactSynonym "ruvalcaba syndrome" . + oboInOwl:hasExactSynonym "ruvalcaba syndrome" ; + skos:exactMatch UMLS:C0265248 . OMIM:180900 a owl:Class ; rdfs:label "rutherfurd syndrome" ; IAO:0000142 PMID:20776268, PMID:25714557 ; - oboInOwl:hasDbXref UMLS:C0796140 ; oboInOwl:hasExactSynonym "corneal dystrophy with gum hypertrophy", "gingival hypertrophy with corneal dystrophy", "rutherfurd syndrome" ; + skos:exactMatch UMLS:C0796140 ; biolink:category biolink:Disease . OMIM:180901 a owl:Class ; @@ -68369,13 +70100,6 @@ OMIM:180901 a owl:Class ; PMID:9831351 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:145600 ; - oboInOwl:hasDbXref UMLS:C0751951, - UMLS:C1419778, - UMLS:C1840365, - UMLS:C1850674, - UMLS:C2674259, - UMLS:C2930980, - UMLS:C4016368 ; oboInOwl:hasExactSynonym "RYR1", "ryanodine receptor 1", "ryanodine receptor, skeletal muscle", @@ -68383,7 +70107,15 @@ OMIM:180901 a owl:Class ; "skeletal muscle ryanodine receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6261 ; - skos:exactMatch HGNC_symbol:RYR1 ; + skos:exactMatch UMLS:C0751951, + UMLS:C1419778, + UMLS:C1840365, + UMLS:C1850674, + UMLS:C2674259, + UMLS:C2930980, + UMLS:C4016368, + HGNC:10483, + HGNC_symbol:RYR1 ; biolink:category biolink:Gene . OMIM:180902 a owl:Class ; @@ -68426,16 +70158,17 @@ OMIM:180902 a owl:Class ; PMID:9628868 ; RO:0002525 CHR:9606chr1q43 ; RO:0003303 OMIM:604772 ; - oboInOwl:hasDbXref UMLS:C1419779, - UMLS:C1631597, - UMLS:C1832931, - UMLS:C4016369 ; oboInOwl:hasExactSynonym "RYR2", "ryanodine receptor 2", "ryanodine receptor, cardiac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6262 ; - skos:exactMatch HGNC_symbol:RYR2 ; + skos:exactMatch UMLS:C1419779, + UMLS:C1631597, + UMLS:C1832931, + UMLS:C4016369, + HGNC:10484, + HGNC_symbol:RYR2 ; biolink:category biolink:Gene . OMIM:180903 a owl:Class ; @@ -68453,21 +70186,22 @@ OMIM:180903 a owl:Class ; PMID:9395096, PMID:9489997, PMID:9515741 ; - oboInOwl:hasDbXref UMLS:C1419780 ; oboInOwl:hasExactSynonym "RYR3", "ryanodine receptor 3", "ryanodine receptor, brain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6263 ; - skos:exactMatch HGNC_symbol:RYR3 ; + skos:exactMatch UMLS:C1419780, + HGNC:10485, + HGNC_symbol:RYR3 ; biolink:category biolink:Gene . OMIM:180910 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:955645 ; - oboInOwl:hasDbXref UMLS:C1867061 ; oboInOwl:hasExactSynonym "salivary esterase" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1867061 ; biolink:category biolink:Gene . OMIM:180920 a owl:Class ; @@ -68485,12 +70219,12 @@ OMIM:180920 a owl:Class ; PMID:3858468, PMID:6297441, PMID:7356788 ; - oboInOwl:hasDbXref UMLS:C0158667, - UMLS:C1867059 ; oboInOwl:hasExactSynonym "ALSG", "aplasia of lacrimal and salivary glands", "parotid aplasia or hypoplasia", "salivary glands, absence of" ; + skos:exactMatch UMLS:C0158667, + UMLS:C1867059 ; biolink:category biolink:Disease . OMIM:180930 a owl:Class ; @@ -68502,8 +70236,8 @@ OMIM:180940 a owl:Class ; OMIM:180950 a owl:Class ; rdfs:label "salivary substance, clostridium botulinum iia" ; IAO:0000142 PMID:4204386 ; - oboInOwl:hasDbXref UMLS:C1867056 ; oboInOwl:hasExactSynonym "salivary substance, clostridium botulinum iia" ; + skos:exactMatch UMLS:C1867056 ; biolink:category biolink:Disease . OMIM:180960 a owl:Class ; @@ -68520,13 +70254,14 @@ OMIM:180960 a owl:Class ; PMID:7079734 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:613752 ; - oboInOwl:hasDbXref UMLS:C1412291 ; oboInOwl:hasExactSynonym "AHCY", "s-adenosylhomocysteine hydrolase", "sahh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:191 ; - skos:exactMatch HGNC_symbol:AHCY ; + skos:exactMatch UMLS:C1412291, + HGNC:343, + HGNC_symbol:AHCY ; biolink:category biolink:Gene . OMIM:180980 a owl:Class ; @@ -68538,13 +70273,14 @@ OMIM:180980 a owl:Class ; PMID:29310120, PMID:7789170, PMID:8314573 ; - oboInOwl:hasDbXref UMLS:C1412379 ; oboInOwl:hasExactSynonym "AMD1", "amd", "s-adenosylmethionine decarboxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:262 ; - skos:exactMatch HGNC_symbol:AMD1 ; + skos:exactMatch UMLS:C1412379, + HGNC:457, + HGNC_symbol:AMD1 ; biolink:category biolink:Gene . OMIM:180989 a owl:Class ; @@ -68560,7 +70296,6 @@ OMIM:180989 a owl:Class ; PMID:752561, PMID:8422499, PMID:877561 ; - oboInOwl:hasDbXref UMLS:C1418866 ; oboInOwl:hasExactSynonym "PRB1", "basic salivary proline-rich protein, bstni type, 1", "con2", @@ -68571,7 +70306,9 @@ OMIM:180989 a owl:Class ; "salivary protein pe" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5542 ; - skos:exactMatch HGNC_symbol:PRB1 ; + skos:exactMatch UMLS:C1418866, + HGNC:9337, + HGNC_symbol:PRB1 ; biolink:category biolink:Gene . OMIM:180990 a owl:Class ; @@ -68580,23 +70317,24 @@ OMIM:180990 a owl:Class ; PMID:6529438, PMID:6712583, PMID:8554050 ; - oboInOwl:hasDbXref UMLS:C1418869 ; oboInOwl:hasExactSynonym "PRB4", "basic salivary proline-rich protein, bstni type, 4", "proline-rich protein, bstni subfamily, 4", "salivary protein po" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5545 ; - skos:exactMatch HGNC_symbol:PRB4 ; + skos:exactMatch UMLS:C1418869, + HGNC:9340, + HGNC_symbol:PRB4 ; biolink:category biolink:Gene . OMIM:181010 a owl:Class ; rdfs:label "salivary duct calculi" ; IAO:0000142 PMID:7088758 ; - oboInOwl:hasDbXref UMLS:C0036089 ; oboInOwl:hasExactSynonym "parotid duct calculi", "salivary duct calculi", - "submandibular duct calculi" . + "submandibular duct calculi" ; + skos:exactMatch UMLS:C0036089 . OMIM:181030 a owl:Class ; rdfs:label "salivary gland adenoma, pleomorphic" ; @@ -68606,10 +70344,10 @@ OMIM:181030 a owl:Class ; PMID:3505884, PMID:3691185, PMID:3707067 ; - oboInOwl:hasDbXref UMLS:C1519176 ; oboInOwl:hasExactSynonym "psa", "salivary gland adenoma, pleomorphic", "sgpa" ; + skos:exactMatch UMLS:C1519176 ; biolink:category biolink:Disease . OMIM:181031 a owl:Class ; @@ -68627,7 +70365,6 @@ OMIM:181031 a owl:Class ; PMID:9565049 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:613758 ; - oboInOwl:hasDbXref UMLS:C1419805 ; oboInOwl:hasExactSynonym "SAG", "arrestin", "rod arrestin", @@ -68635,19 +70372,22 @@ OMIM:181031 a owl:Class ; "s-arrestin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6295 ; - skos:exactMatch HGNC_symbol:SAG ; + skos:exactMatch UMLS:C1419805, + HGNC:10521, + HGNC_symbol:SAG ; biolink:category biolink:Gene . OMIM:181035 a owl:Class ; rdfs:label "TSPAN31" ; IAO:0000142 PMID:7789984 ; - oboInOwl:hasDbXref UMLS:C1823519 ; oboInOwl:hasExactSynonym "TSPAN31", "sarcoma amplified sequence", "tetraspanin 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6302 ; - skos:exactMatch HGNC_symbol:TSPAN31 ; + skos:exactMatch UMLS:C1823519, + HGNC:10539, + HGNC_symbol:TSPAN31 ; biolink:category biolink:Gene . OMIM:181180 a owl:Class ; @@ -68656,28 +70396,28 @@ OMIM:181180 a owl:Class ; PMID:1132884, PMID:8434624, PMID:9182773 ; - oboInOwl:hasDbXref UMLS:C1867023 ; oboInOwl:hasExactSynonym "cleft palate, microcephaly, large ears, and short stature", - "say syndrome" . + "say syndrome" ; + skos:exactMatch UMLS:C1867023 . OMIM:181200 a owl:Class ; rdfs:label "sc(1) trait of saliva" ; IAO:0000142 PMID:14175197 ; - oboInOwl:hasDbXref UMLS:C1867022 ; - oboInOwl:hasExactSynonym "sc(1) trait of saliva" . + oboInOwl:hasExactSynonym "sc(1) trait of saliva" ; + skos:exactMatch UMLS:C1867022 . OMIM:181250 a owl:Class ; rdfs:label "scalp defects and postaxial polydactyly" ; IAO:0000142 PMID:201465, PMID:4029956, PMID:468253 ; - oboInOwl:hasDbXref UMLS:C1867021 ; - oboInOwl:hasExactSynonym "scalp defects and postaxial polydactyly" . + oboInOwl:hasExactSynonym "scalp defects and postaxial polydactyly" ; + skos:exactMatch UMLS:C1867021 . OMIM:181300 a owl:Class ; rdfs:label "scapula, contour of vertebral border of" ; - oboInOwl:hasDbXref UMLS:C1867019 ; - oboInOwl:hasExactSynonym "scapula, contour of vertebral border of" . + oboInOwl:hasExactSynonym "scapula, contour of vertebral border of" ; + skos:exactMatch UMLS:C1867019 . OMIM:181405 a owl:Class ; rdfs:label "scapuloperoneal spinal muscular atrophy" ; @@ -68687,10 +70427,10 @@ OMIM:181405 a owl:Class ; PMID:21336783, PMID:8619529, PMID:8872481 ; - oboInOwl:hasDbXref UMLS:C0751335 ; oboInOwl:hasExactSynonym "SPSMA", "amyotrophy, neurogenic scapuloperoneal, new england iia", "scapuloperoneal spinal muscular atrophy" ; + skos:exactMatch UMLS:C0751335 ; biolink:category biolink:Disease . OMIM:181440 a owl:Class ; @@ -68701,10 +70441,10 @@ OMIM:181440 a owl:Class ; PMID:6766635, PMID:717319, PMID:949237 ; - oboInOwl:hasDbXref UMLS:C0036310 ; oboInOwl:hasExactSynonym "scheuermann disease", "scheuermann juvenile kyphosis", "spinal osteochondrosis" ; + skos:exactMatch UMLS:C0036310 ; biolink:category biolink:Disease . OMIM:181515 a owl:Class ; @@ -68734,21 +70474,22 @@ OMIM:181590 a owl:Class ; PMID:9171354 ; RO:0002525 CHR:9606chr1p33 ; RO:0003303 OMIM:612703 ; - oboInOwl:hasDbXref UMLS:C1420065, - UMLS:C2675187 ; oboInOwl:hasExactSynonym "STIL", "scl-interrupting locus", "scl/tal1-interrupting locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6491 ; - skos:exactMatch HGNC_symbol:STIL ; + skos:exactMatch UMLS:C1420065, + UMLS:C2675187, + HGNC:10879, + HGNC_symbol:STIL ; biolink:category biolink:Gene . OMIM:181700 a owl:Class ; rdfs:label "sclerocornea, autosomal dominant" ; IAO:0000142 PMID:3994576 ; - oboInOwl:hasDbXref UMLS:C1866984 ; - oboInOwl:hasExactSynonym "sclerocornea, autosomal dominant" . + oboInOwl:hasExactSynonym "sclerocornea, autosomal dominant" ; + skos:exactMatch UMLS:C1866984 . OMIM:181750 a owl:Class ; rdfs:label "scleroderma, familial progressive" ; @@ -68789,11 +70530,11 @@ OMIM:181750 a owl:Class ; PMID:8723723, PMID:886553, PMID:9778214 ; - oboInOwl:hasDbXref UMLS:C0206138, - UMLS:C1866983 ; oboInOwl:hasExactSynonym "crest syndrome", "scleroderma, familial progressive", "systemic sclerosis, susceptibility to" ; + skos:exactMatch UMLS:C0206138, + UMLS:C1866983 ; biolink:category biolink:Disease . OMIM:182000 a owl:Class ; @@ -68801,20 +70542,20 @@ OMIM:182000 a owl:Class ; IAO:0000142 PMID:143912, PMID:15772091, PMID:17673550 ; - oboInOwl:hasDbXref UMLS:C0022603 ; oboInOwl:hasExactSynonym "keratosis, seborrheic" ; + skos:exactMatch UMLS:C0022603 ; biolink:category biolink:Disease . OMIM:182090 a owl:Class ; rdfs:label "SSAV1" ; IAO:0000142 PMID:2536635, PMID:8449504 ; - oboInOwl:hasDbXref UMLS:C1420421 ; oboInOwl:hasExactSynonym "SSAV1", "glv", "simian sarcoma-associated virus-1/gibbon ape leukemia virus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6739 ; + skos:exactMatch UMLS:C1420421 ; biolink:category biolink:Gene . OMIM:182098 a owl:Class ; @@ -68824,12 +70565,13 @@ OMIM:182098 a owl:Class ; PMID:19805236, PMID:7612008, PMID:8575789 ; - oboInOwl:hasDbXref UMLS:C1335806 ; oboInOwl:hasExactSynonym "SCTR", "secretin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6344 ; - skos:exactMatch HGNC_symbol:SCTR ; + skos:exactMatch UMLS:C1335806, + HGNC:10608, + HGNC_symbol:SCTR ; biolink:category biolink:Gene . OMIM:182099 a owl:Class ; @@ -68840,12 +70582,13 @@ OMIM:182099 a owl:Class ; PMID:2315322, PMID:5465996, PMID:9148905 ; - oboInOwl:hasDbXref UMLS:C1419875 ; oboInOwl:hasExactSynonym "SCT", "secretin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6343 ; - skos:exactMatch HGNC_symbol:SCT ; + skos:exactMatch UMLS:C1419875, + HGNC:10607, + HGNC_symbol:SCT ; biolink:category biolink:Gene . OMIM:182100 a owl:Class ; @@ -68875,14 +70618,15 @@ OMIM:182100 a owl:Class ; PMID:9299444 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:612542 ; - oboInOwl:hasDbXref UMLS:C1414863 ; oboInOwl:hasExactSynonym "FUT2", "fucosyltransferase 2", "sec2", "secretor factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2524 ; - skos:exactMatch HGNC_symbol:FUT2 ; + skos:exactMatch UMLS:C1414863, + HGNC:4013, + HGNC_symbol:FUT2 ; biolink:category biolink:Gene . OMIM:182115 a owl:Class ; @@ -68894,7 +70638,6 @@ OMIM:182115 a owl:Class ; PMID:20080746, PMID:8449036, PMID:8706128 ; - oboInOwl:hasDbXref UMLS:C1418978 ; oboInOwl:hasExactSynonym "CYTH1", "cytohesin 1", "d17s811e", @@ -68902,7 +70645,9 @@ OMIM:182115 a owl:Class ; "sec7, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9267 ; - skos:exactMatch HGNC_symbol:CYTH1 ; + skos:exactMatch UMLS:C1418978, + HGNC:9501, + HGNC_symbol:CYTH1 ; biolink:category biolink:Gene . OMIM:182120 a owl:Class ; @@ -68928,14 +70673,15 @@ OMIM:182120 a owl:Class ; PMID:9524110 ; RO:0002525 CHR:9606chr5q33.1 ; RO:0003303 OMIM:616507 ; - oboInOwl:hasDbXref UMLS:C1420342 ; oboInOwl:hasExactSynonym "SPARC", "bm40", "osteonectin", "secreted protein, acidic, cysteine-rich" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6678 ; - skos:exactMatch HGNC_symbol:SPARC ; + skos:exactMatch UMLS:C1420342, + HGNC:11219, + HGNC_symbol:SPARC ; biolink:category biolink:Gene . OMIM:182125 a owl:Class ; @@ -68960,24 +70706,26 @@ OMIM:182125 a owl:Class ; PMID:9700606 ; RO:0002525 CHR:9606chr2p13.2 ; RO:0003303 OMIM:612716 ; - oboInOwl:hasDbXref UMLS:C1420371 ; oboInOwl:hasExactSynonym "SPR", "sepiapterin reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6697 ; - skos:exactMatch HGNC_symbol:SPR ; + skos:exactMatch UMLS:C1420371, + HGNC:11257, + HGNC_symbol:SPR ; biolink:category biolink:Gene . OMIM:182128 a owl:Class ; rdfs:label "SDS" ; IAO:0000142 PMID:2674117 ; - oboInOwl:hasDbXref UMLS:C1419917 ; oboInOwl:hasExactSynonym "SDS", "sdh", "serine dehydratase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10993 ; - skos:exactMatch HGNC_symbol:SDS ; + skos:exactMatch UMLS:C1419917, + HGNC:10691, + HGNC_symbol:SDS ; biolink:category biolink:Gene . OMIM:182131 a owl:Class ; @@ -68998,7 +70746,6 @@ OMIM:182131 a owl:Class ; PMID:29925951, PMID:8358175, PMID:9603521 ; - oboInOwl:hasDbXref UMLS:C1415804 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 1b", "5-hydroxytryptamine-1d-beta receptor", "HTR1B", @@ -69006,7 +70753,9 @@ OMIM:182131 a owl:Class ; "serotonin 5-ht-1d-beta receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3351 ; - skos:exactMatch HGNC_symbol:HTR1B ; + skos:exactMatch UMLS:C1415804, + HGNC:5287, + HGNC_symbol:HTR1B ; biolink:category biolink:Gene . OMIM:182132 a owl:Class ; @@ -69014,13 +70763,14 @@ OMIM:182132 a owl:Class ; IAO:0000142 PMID:1608964, PMID:1733778, PMID:8001977 ; - oboInOwl:hasDbXref UMLS:C1415807 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 1e", "HTR1E", "serotonin 5-ht-1e receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3354 ; - skos:exactMatch HGNC_symbol:HTR1E ; + skos:exactMatch UMLS:C1415807, + HGNC:5291, + HGNC_symbol:HTR1E ; biolink:category biolink:Gene . OMIM:182133 a owl:Class ; @@ -69029,7 +70779,6 @@ OMIM:182133 a owl:Class ; PMID:1565658, PMID:1662665, PMID:8288218 ; - oboInOwl:hasDbXref UMLS:C1415805 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 1d", "5-hydroxytryptamine receptor 1d-alpha", "HTR1D", @@ -69037,14 +70786,15 @@ OMIM:182133 a owl:Class ; "serotonin 5-ht-1d receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3352 ; - skos:exactMatch HGNC_symbol:HTR1D ; + skos:exactMatch UMLS:C1415805, + HGNC:5289, + HGNC_symbol:HTR1D ; biolink:category biolink:Gene . OMIM:182134 a owl:Class ; rdfs:label "HTR1F" ; IAO:0000142 PMID:1328180, PMID:8384716 ; - oboInOwl:hasDbXref UMLS:C1415808 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 1f", "5-hydroxytryptamine-1e-like receptor", "HTR1F", @@ -69053,7 +70803,9 @@ OMIM:182134 a owl:Class ; "serotonin 5-ht-1f receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3355 ; - skos:exactMatch HGNC_symbol:HTR1F ; + skos:exactMatch UMLS:C1415808, + HGNC:5292, + HGNC_symbol:HTR1F ; biolink:category biolink:Gene . OMIM:182135 a owl:Class ; @@ -69093,14 +70845,15 @@ OMIM:182135 a owl:Class ; PMID:9729300 ; RO:0002525 CHR:9606chr13q14.2 ; RO:0003303 OMIM:608516 ; - oboInOwl:hasDbXref UMLS:C1415809 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 2a", "HTR2A", "serotonin 5-ht-2 receptor, formerly", "serotonin 5-ht-2a receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3356 ; - skos:exactMatch HGNC_symbol:HTR2A ; + skos:exactMatch UMLS:C1415809, + HGNC:5293, + HGNC_symbol:HTR2A ; biolink:category biolink:Gene . OMIM:182137 a owl:Class ; @@ -69112,13 +70865,14 @@ OMIM:182137 a owl:Class ; PMID:8226867, PMID:8397408, PMID:9084407 ; - oboInOwl:hasDbXref UMLS:C1415816 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 7", "HTR7", "serotonin 5-ht-7 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3363 ; - skos:exactMatch HGNC_symbol:HTR7 ; + skos:exactMatch UMLS:C1415816, + HGNC:5302, + HGNC_symbol:HTR7 ; biolink:category biolink:Gene . OMIM:182138 a owl:Class ; @@ -69188,7 +70942,6 @@ OMIM:182138 a owl:Class ; PMID:8929413 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:164230 ; - oboInOwl:hasDbXref UMLS:C1420214 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine transporter", "SLC6A4", "htt", @@ -69196,7 +70949,9 @@ OMIM:182138 a owl:Class ; "solute carrier family 6 (neurotransmitter transporter, serotonin), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6532 ; - skos:exactMatch HGNC_symbol:SLC6A4 ; + skos:exactMatch UMLS:C1420214, + HGNC:11050, + HGNC_symbol:SLC6A4 ; biolink:category biolink:Gene . OMIM:182139 a owl:Class ; @@ -69212,40 +70967,43 @@ OMIM:182139 a owl:Class ; PMID:7565620, PMID:8112471, PMID:8530095 ; - oboInOwl:hasDbXref UMLS:C1333933 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 3", "5-hydroxytryptamine receptor 3a", "HTR3A", "serotonin 5-ht-3 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3359 ; - skos:exactMatch HGNC_symbol:HTR3A ; + skos:exactMatch UMLS:C1333933, + HGNC:5297, + HGNC_symbol:HTR3A ; biolink:category biolink:Gene . OMIM:182140 a owl:Class ; rdfs:label "SEMG1" ; IAO:0000142 PMID:1517240, PMID:2912989 ; - oboInOwl:hasDbXref UMLS:C1419960 ; oboInOwl:hasExactSynonym "SEMG1", "cancer/testis antigen 103", "semenogelin", "semenogelin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6406 ; - skos:exactMatch HGNC_symbol:SEMG1 ; + skos:exactMatch UMLS:C1419960, + HGNC:10742, + HGNC_symbol:SEMG1 ; biolink:category biolink:Gene . OMIM:182141 a owl:Class ; rdfs:label "SEMG2" ; IAO:0000142 PMID:1517240, PMID:15531881 ; - oboInOwl:hasDbXref UMLS:C1419961 ; oboInOwl:hasExactSynonym "SEMG2", "semenogelin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6407 ; - skos:exactMatch HGNC_symbol:SEMG2 ; + skos:exactMatch UMLS:C1419961, + HGNC:10743, + HGNC_symbol:SEMG2 ; biolink:category biolink:Gene . OMIM:182143 a owl:Class ; @@ -69257,28 +71015,29 @@ OMIM:182144 a owl:Class ; IAO:0000142 PMID:8505317, PMID:8533763, PMID:8786078 ; - oboInOwl:hasDbXref UMLS:C1420038 ; oboInOwl:hasExactSynonym "SHMT1", "serine hydroxymethyltransferase, cytosolic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6470 ; - skos:exactMatch HGNC_symbol:SHMT1 ; + skos:exactMatch UMLS:C1420038, + HGNC:10850, + HGNC_symbol:SHMT1 ; biolink:category biolink:Gene . OMIM:182145 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:1990842 ; - oboInOwl:hasDbXref UMLS:C1866968 ; oboInOwl:hasExactSynonym "serum protein polymorphism m-158", "sppm-158" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1866968 ; biolink:category biolink:Gene . OMIM:182150 a owl:Class ; rdfs:label "simosa craniofacial syndrome" ; IAO:0000142 PMID:2929657 ; - oboInOwl:hasDbXref UMLS:C1866962 ; - oboInOwl:hasExactSynonym "simosa craniofacial syndrome" . + oboInOwl:hasExactSynonym "simosa craniofacial syndrome" ; + skos:exactMatch UMLS:C1866962 . OMIM:182160 a owl:Class ; rdfs:label "SPN" ; @@ -69293,7 +71052,6 @@ OMIM:182160 a owl:Class ; PMID:2521952, PMID:2784859, PMID:7683406 ; - oboInOwl:hasDbXref UMLS:C1420364 ; oboInOwl:hasExactSynonym "SPN", "cd43", "gpl115", @@ -69302,7 +71060,9 @@ OMIM:182160 a owl:Class ; "sialophorin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6693 ; - skos:exactMatch HGNC_symbol:SPN ; + skos:exactMatch UMLS:C1420364, + HGNC:11249, + HGNC_symbol:SPN ; biolink:category biolink:Gene . OMIM:182170 a owl:Class ; @@ -69310,10 +71070,10 @@ OMIM:182170 a owl:Class ; IAO:0000142 PMID:26491070, PMID:3180700, PMID:3653362 ; - oboInOwl:hasDbXref UMLS:C4225428 ; oboInOwl:hasExactSynonym "SIDBA4", "anemia, sideroblastic, 4" ; rdfs:subClassOf OMIMPS:300751 ; + skos:exactMatch UMLS:C4225428 ; biolink:category biolink:Disease . OMIM:182175 a owl:Class ; @@ -69325,12 +71085,13 @@ OMIM:182175 a owl:Class ; PMID:2460823, PMID:8388766, PMID:9399828 ; - oboInOwl:hasDbXref UMLS:C1335862 ; oboInOwl:hasExactSynonym "SRP19", "signal recognition particle, 19-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6728 ; - skos:exactMatch HGNC_symbol:SRP19 ; + skos:exactMatch UMLS:C1335862, + HGNC:11300, + HGNC_symbol:SRP19 ; biolink:category biolink:Gene . OMIM:182180 a owl:Class ; @@ -69338,29 +71099,30 @@ OMIM:182180 a owl:Class ; IAO:0000142 PMID:12193787, PMID:1312991, PMID:3340536 ; - oboInOwl:hasDbXref UMLS:C1420414 ; oboInOwl:hasExactSynonym "SRPRA", "docking protein", "signal recognition particle receptor", "srp receptor subunit, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6734 ; - skos:exactMatch HGNC_symbol:SRPRA ; + skos:exactMatch UMLS:C1420414, + HGNC:11307, + HGNC_symbol:SRPRA ; biolink:category biolink:Gene . OMIM:182190 a owl:Class ; rdfs:label "sinus node disease and myopia" ; IAO:0000142 PMID:3943873 ; - oboInOwl:hasDbXref UMLS:C1866960 ; oboInOwl:hasExactSynonym "sick sinus syndrome and myopia", "sinus node disease and myopia", - "sss-myopia syndrome" . + "sss-myopia syndrome" ; + skos:exactMatch UMLS:C1866960 . OMIM:182200 a owl:Class ; rdfs:label "sella turcica, bridged" ; IAO:0000142 PMID:5676881 ; - oboInOwl:hasDbXref UMLS:C1866959 ; - oboInOwl:hasExactSynonym "sella turcica, bridged" . + oboInOwl:hasExactSynonym "sella turcica, bridged" ; + skos:exactMatch UMLS:C1866959 . OMIM:182203 a owl:Class ; IAO:0100001 OMIM:162643 ; @@ -69370,22 +71132,22 @@ OMIM:182210 a owl:Class ; rdfs:label "shprintzen omphalocele syndrome" ; IAO:0000142 PMID:16411191, PMID:526588 ; - oboInOwl:hasDbXref UMLS:C1866958 ; oboInOwl:hasExactSynonym "omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis", "pharynx and larynx hypoplasia with omphalocele", - "shprintzen omphalocele syndrome" . + "shprintzen omphalocele syndrome" ; + skos:exactMatch UMLS:C1866958 . OMIM:182220 a owl:Class ; rdfs:label "sister chromatid exchange, frequency of" ; IAO:0000142 PMID:7072718 ; - oboInOwl:hasDbXref UMLS:C1866942 ; oboInOwl:hasExactSynonym "sce, frequency of", - "sister chromatid exchange, frequency of" . + "sister chromatid exchange, frequency of" ; + skos:exactMatch UMLS:C1866942 . OMIM:182255 a owl:Class ; rdfs:label "skeletal dysplasia with delayed epiphyseal and carpal bone ossification" ; - oboInOwl:hasDbXref UMLS:C1866939 ; - oboInOwl:hasExactSynonym "skeletal dysplasia with delayed epiphyseal and carpal bone ossification" . + oboInOwl:hasExactSynonym "skeletal dysplasia with delayed epiphyseal and carpal bone ossification" ; + skos:exactMatch UMLS:C1866939 . OMIM:182257 a owl:Class ; rdfs:label "PI3" ; @@ -69400,7 +71162,6 @@ OMIM:182257 a owl:Class ; PMID:7685029, PMID:8287685, PMID:9727750 ; - oboInOwl:hasDbXref UMLS:C1418549 ; oboInOwl:hasExactSynonym "PI3", "antileukoproteinase, skin-derived", "elafin", @@ -69410,7 +71171,9 @@ OMIM:182257 a owl:Class ; "trappin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5266 ; - skos:exactMatch HGNC_symbol:PI3 ; + skos:exactMatch UMLS:C1418549, + HGNC:8947, + HGNC_symbol:PI3 ; biolink:category biolink:Gene . OMIM:182260 a owl:Class ; @@ -69420,9 +71183,9 @@ OMIM:182260 a owl:Class ; PMID:4247829, PMID:602375, PMID:6037567 ; - oboInOwl:hasDbXref UMLS:C0149887 ; oboInOwl:hasExactSynonym "epiphysiolysis capitis femoris", - "slipped femoral capital epiphyses" . + "slipped femoral capital epiphyses" ; + skos:exactMatch UMLS:C0149887 . OMIM:182265 a owl:Class ; rdfs:label "SPRR1A" ; @@ -69431,12 +71194,13 @@ OMIM:182265 a owl:Class ; PMID:16639001, PMID:2873896, PMID:8325635 ; - oboInOwl:hasDbXref UMLS:C1420372 ; oboInOwl:hasExactSynonym "SPRR1A", "small proline-rich protein 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6698 ; - skos:exactMatch HGNC_symbol:SPRR1A ; + skos:exactMatch UMLS:C1420372, + HGNC:11259, + HGNC_symbol:SPRR1A ; biolink:category biolink:Gene . OMIM:182266 a owl:Class ; @@ -69444,13 +71208,14 @@ OMIM:182266 a owl:Class ; IAO:0000142 PMID:11279051, PMID:1438308, PMID:8325635 ; - oboInOwl:hasDbXref UMLS:C1420373 ; oboInOwl:hasExactSynonym "SPRR1B", "cornifin", "small proline-rich protein 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6699 ; - skos:exactMatch HGNC_symbol:SPRR1B ; + skos:exactMatch UMLS:C1420373, + HGNC:11260, + HGNC_symbol:SPRR1B ; biolink:category biolink:Gene . OMIM:182267 a owl:Class ; @@ -69460,12 +71225,13 @@ OMIM:182267 a owl:Class ; PMID:15731505, PMID:16639001, PMID:8325635 ; - oboInOwl:hasDbXref UMLS:C1420374 ; oboInOwl:hasExactSynonym "SPRR2A", "small proline-rich protein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6700 ; - skos:exactMatch HGNC_symbol:SPRR2A ; + skos:exactMatch UMLS:C1420374, + HGNC:11261, + HGNC_symbol:SPRR2A ; biolink:category biolink:Gene . OMIM:182268 a owl:Class ; @@ -69473,31 +71239,33 @@ OMIM:182268 a owl:Class ; IAO:0000142 PMID:11279051, PMID:15731505, PMID:8325635 ; - oboInOwl:hasDbXref UMLS:C1420375 ; oboInOwl:hasExactSynonym "SPRR2B", "small proline-rich protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6701 ; - skos:exactMatch HGNC_symbol:SPRR2B ; + skos:exactMatch UMLS:C1420375, + HGNC:11262, + HGNC_symbol:SPRR2B ; biolink:category biolink:Gene . OMIM:182270 a owl:Class ; rdfs:label "ketone compounds, ability to smell" ; IAO:0000142 PMID:4908290, PMID:7198858 ; - oboInOwl:hasDbXref UMLS:C1866938 ; - oboInOwl:hasExactSynonym "ketone compounds, ability to smell" . + oboInOwl:hasExactSynonym "ketone compounds, ability to smell" ; + skos:exactMatch UMLS:C1866938 . OMIM:182271 a owl:Class ; rdfs:label "SPRR3" ; IAO:0000142 PMID:11279051, PMID:8325635 ; - oboInOwl:hasDbXref UMLS:C1420381 ; oboInOwl:hasExactSynonym "SPRR3", "small proline-rich protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6707 ; - skos:exactMatch HGNC_symbol:SPRR3 ; + skos:exactMatch UMLS:C1420381, + HGNC:11268, + HGNC_symbol:SPRR3 ; biolink:category biolink:Gene . OMIM:182279 a owl:Class ; @@ -69539,21 +71307,21 @@ OMIM:182279 a owl:Class ; PMID:9915945 ; RO:0002525 CHR:9606chr15q11.2 ; RO:0003303 OMIM:176270 ; - oboInOwl:hasDbXref UMLS:C1420295, - UMLS:C1420299 ; oboInOwl:hasExactSynonym "SNRPN", "small nuclear ribonucleoprotein polypeptide n", "smn", "snrpn upstream reading frame" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6638 ; - skos:exactMatch HGNC_symbol:SNRPN ; + skos:exactMatch UMLS:C1420295, + UMLS:C1420299, + HGNC:11164, + HGNC_symbol:SNRPN ; biolink:category biolink:Gene . OMIM:182281 a owl:Class ; rdfs:label "CCL1" ; IAO:0000142 PMID:2212659 ; - oboInOwl:hasDbXref UMLS:C1332683 ; oboInOwl:hasExactSynonym "CCL1", "chemokine, cc motif, ligand 1", "inflammatory cytokine i-309", @@ -69561,7 +71329,9 @@ OMIM:182281 a owl:Class ; "small inducible cytokine subfamily a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6346 ; - skos:exactMatch HGNC_symbol:CCL1 ; + skos:exactMatch UMLS:C1332683, + HGNC:10609, + HGNC_symbol:CCL1 ; biolink:category biolink:Gene . OMIM:182282 a owl:Class ; @@ -69574,13 +71344,14 @@ OMIM:182282 a owl:Class ; PMID:26971886 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:117650 ; - oboInOwl:hasDbXref UMLS:C1420285 ; oboInOwl:hasExactSynonym "SNRPB", "small nuclear ribonucleoprotein polypeptides B and b-prime", "small nuclear ribonucleoprotein polypeptides B and b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6628 ; - skos:exactMatch HGNC_symbol:SNRPB ; + skos:exactMatch UMLS:C1420285, + HGNC:11153, + HGNC_symbol:SNRPB ; biolink:category biolink:Gene . OMIM:182283 a owl:Class ; @@ -69604,7 +71375,6 @@ OMIM:182283 a owl:Class ; PMID:8525373 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:609423 ; - oboInOwl:hasDbXref UMLS:C1332690 ; oboInOwl:hasExactSynonym "CCL3", "chemokine, cc motif, ligand 3", "ld78-alpha", @@ -69612,7 +71382,9 @@ OMIM:182283 a owl:Class ; "small inducible cytokine a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6348 ; - skos:exactMatch HGNC_symbol:CCL3 ; + skos:exactMatch UMLS:C1332690, + HGNC:10627, + HGNC_symbol:CCL3 ; biolink:category biolink:Gene . OMIM:182285 a owl:Class ; @@ -69620,12 +71392,13 @@ OMIM:182285 a owl:Class ; IAO:0000142 PMID:1701111, PMID:1831431, PMID:2962859 ; - oboInOwl:hasDbXref UMLS:C1420283 ; oboInOwl:hasExactSynonym "SNRPA", "small nuclear ribonucleoprotein polypeptide a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6626 ; - skos:exactMatch HGNC_symbol:SNRPA ; + skos:exactMatch UMLS:C1420283, + HGNC:11151, + HGNC_symbol:SNRPA ; biolink:category biolink:Gene . OMIM:182305 a owl:Class ; @@ -69641,13 +71414,14 @@ OMIM:182305 a owl:Class ; PMID:8485996, PMID:8798769, PMID:8921376 ; - oboInOwl:hasDbXref UMLS:C1420229 ; oboInOwl:hasExactSynonym "SLC8A1", "sodium-calcium exchanger 1", "solute carrier family 8 (sodium-calcium exchanger), member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6546 ; - skos:exactMatch HGNC_symbol:SLC8A1 ; + skos:exactMatch UMLS:C1420229, + HGNC:11068, + HGNC_symbol:SLC8A1 ; biolink:category biolink:Gene . OMIM:182307 a owl:Class ; @@ -69667,15 +71441,16 @@ OMIM:182307 a owl:Class ; PMID:9662405 ; RO:0002525 CHR:9606chr5p15.33 ; RO:0003303 OMIM:616868 ; - oboInOwl:hasDbXref UMLS:C0267663, - UMLS:C1420234 ; oboInOwl:hasExactSynonym "SLC9A3", "sodium/hydrogen exchanger 3", "sodium/hydrogen exchanger, apical epithelial", "solute carrier family 9, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6550 ; - skos:exactMatch HGNC_symbol:SLC9A3 ; + skos:exactMatch UMLS:C0267663, + UMLS:C1420234, + HGNC:11073, + HGNC_symbol:SLC9A3 ; biolink:category biolink:Gene . OMIM:182308 a owl:Class ; @@ -69683,7 +71458,6 @@ OMIM:182308 a owl:Class ; IAO:0000142 PMID:8288239, PMID:8995482, PMID:9186516 ; - oboInOwl:hasDbXref UMLS:C1420109 ; oboInOwl:hasExactSynonym "SLC17A1", "renal sodium-phosphate transport protein 1", "sodium-phosphate transport 1, kidney", @@ -69691,7 +71465,9 @@ OMIM:182308 a owl:Class ; "solute carrier family 17 (sodium phosphate cotransporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6568 ; - skos:exactMatch HGNC_symbol:SLC17A1 ; + skos:exactMatch UMLS:C1420109, + HGNC:10929, + HGNC_symbol:SLC17A1 ; biolink:category biolink:Gene . OMIM:182309 a owl:Class ; @@ -69712,7 +71488,6 @@ OMIM:182309 a owl:Class ; PMID:9560283 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:612286 ; - oboInOwl:hasDbXref UMLS:C1420185 ; oboInOwl:hasExactSynonym "SLC34A1", "napi3", "renal sodium/phosphate transport protein 2", @@ -69721,7 +71496,9 @@ OMIM:182309 a owl:Class ; "solute carrier family 34 (type 2 sodium/phosphate cotransporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6569 ; - skos:exactMatch HGNC_symbol:SLC34A1 ; + skos:exactMatch UMLS:C1420185, + HGNC:11019, + HGNC_symbol:SLC34A1 ; biolink:category biolink:Gene . OMIM:182310 a owl:Class ; @@ -69749,14 +71526,15 @@ OMIM:182310 a owl:Class ; PMID:9739044 ; RO:0002525 CHR:9606chr1p13.1 ; RO:0003303 OMIM:618314 ; - oboInOwl:hasDbXref UMLS:C1412628 ; oboInOwl:hasExactSynonym "ATP1A1", "atpase, na+/k+ transporting, alpha-1 polypeptide", "na,k-atpase, alpha-a catalytic polypeptide", "sodium-potassium-atpase, alpha-1 polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:476 ; - skos:exactMatch HGNC_symbol:ATP1A1 ; + skos:exactMatch UMLS:C1412628, + HGNC:799, + HGNC_symbol:ATP1A1 ; biolink:category biolink:Gene . OMIM:182331 a owl:Class ; @@ -69768,14 +71546,15 @@ OMIM:182331 a owl:Class ; PMID:2468782, PMID:2538450, PMID:28620085 ; - oboInOwl:hasDbXref UMLS:C1412632 ; oboInOwl:hasExactSynonym "ATP1B2", "adhesion molecule on glia", "atpase, na+/k+ transporting, beta-2 polypeptide", "na,k-atpase beta-2 polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:482 ; - skos:exactMatch HGNC_symbol:ATP1B2 ; + skos:exactMatch UMLS:C1412632, + HGNC:805, + HGNC_symbol:ATP1B2 ; biolink:category biolink:Gene . OMIM:182340 a owl:Class ; @@ -69808,7 +71587,6 @@ OMIM:182340 a owl:Class ; PMID:9579893 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:602481 ; - oboInOwl:hasDbXref UMLS:C1412629 ; oboInOwl:hasExactSynonym "ATP1A2", "atpase, na+/k+ transporting, alpha-2 polypeptide", "na,k-atpase, alpha-a(+) catalytic polypeptide", @@ -69816,7 +71594,9 @@ OMIM:182340 a owl:Class ; "sodium-potassium-atpase, alpha-2 polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:477 ; - skos:exactMatch HGNC_symbol:ATP1A2 ; + skos:exactMatch UMLS:C1412629, + HGNC:800, + HGNC_symbol:ATP1A2 ; biolink:category biolink:Gene . OMIM:182350 a owl:Class ; @@ -69855,14 +71635,15 @@ OMIM:182350 a owl:Class ; PMID:9109901 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:128235 ; - oboInOwl:hasDbXref UMLS:C1412630 ; oboInOwl:hasExactSynonym "ATP1A3", "atpase, na+/k+ transporting, alpha-3 polypeptide", "atpase, na+/k+, alpha 3", "sodium-potassium-atpase, alpha-3 polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:478 ; - skos:exactMatch HGNC_symbol:ATP1A3 ; + skos:exactMatch UMLS:C1412630, + HGNC:801, + HGNC_symbol:ATP1A3 ; biolink:category biolink:Gene . OMIM:182360 a owl:Class ; @@ -69874,7 +71655,6 @@ OMIM:182360 a owl:Class ; PMID:8314586, PMID:8838794, PMID:9774385 ; - oboInOwl:hasDbXref UMLS:C1422211 ; oboInOwl:hasExactSynonym "ATP12A", "atpase, h+/k+ transporting, nongastric, alpha polypeptide", "atpase, na+/k+ transporting, alpha polypeptide-like 1", @@ -69882,7 +71662,9 @@ OMIM:182360 a owl:Class ; "sodium/potassium-atpase, alpha polypeptide-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:479 ; - skos:exactMatch HGNC_symbol:ATP12A ; + skos:exactMatch UMLS:C1422211, + HGNC:13816, + HGNC_symbol:ATP12A ; biolink:category biolink:Gene . OMIM:182370 a owl:Class ; @@ -69911,7 +71693,6 @@ OMIM:182380 a owl:Class ; PMID:9309206 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:606824 ; - oboInOwl:hasDbXref UMLS:C1420200 ; oboInOwl:hasExactSynonym "SLC5A1", "na+/glucose cotransporter, high affinity", "sodium-glucose cotransporter, intestinal", @@ -69919,7 +71700,9 @@ OMIM:182380 a owl:Class ; "solute carrier family 5 (sodium/glucose cotransporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6523 ; - skos:exactMatch HGNC_symbol:SLC5A1 ; + skos:exactMatch UMLS:C1420200, + HGNC:11036, + HGNC_symbol:SLC5A1 ; biolink:category biolink:Gene . OMIM:182381 a owl:Class ; @@ -69934,9 +71717,6 @@ OMIM:182381 a owl:Class ; PMID:8282810 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:233100 ; - oboInOwl:hasDbXref UMLS:C0017980, - UMLS:C1420201, - UMLS:C4016376 ; oboInOwl:hasExactSynonym "SLC5A2", "sodium-glucose cotransporter, kidney low affinity", "sodium-glucose cotransporter, renal", @@ -69944,7 +71724,11 @@ OMIM:182381 a owl:Class ; "solute carrier family 5 (sodium/glucose cotransporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6524 ; - skos:exactMatch HGNC_symbol:SLC5A2 ; + skos:exactMatch UMLS:C0017980, + UMLS:C1420201, + UMLS:C4016376, + HGNC:11037, + HGNC_symbol:SLC5A2 ; biolink:category biolink:Gene . OMIM:182389 a owl:Class ; @@ -70003,12 +71787,6 @@ OMIM:182389 a owl:Class ; PMID:9126059 ; RO:0002525 CHR:9606chr2q24.3 ; RO:0003303 OMIM:609634 ; - oboInOwl:hasDbXref UMLS:C0751122, - UMLS:C1419856, - UMLS:C1858673, - UMLS:C1864987, - UMLS:C2751756, - UMLS:C4016377 ; oboInOwl:hasExactSynonym "SCN1A", "nav1.1", "sodium channel, brain iia i, alpha subunit", @@ -70016,7 +71794,14 @@ OMIM:182389 a owl:Class ; "sodium voltage-gated channel, alpha subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6323 ; - skos:exactMatch HGNC_symbol:SCN1A ; + skos:exactMatch UMLS:C0751122, + UMLS:C1419856, + UMLS:C1858673, + UMLS:C1864987, + UMLS:C2751756, + UMLS:C4016377, + HGNC:10585, + HGNC_symbol:SCN1A ; biolink:category biolink:Gene . OMIM:182391 a owl:Class ; @@ -70031,9 +71816,6 @@ OMIM:182391 a owl:Class ; PMID:8159690 ; RO:0002525 CHR:9606chr2q24.3 ; RO:0003303 OMIM:617935 ; - oboInOwl:hasDbXref UMLS:C1419861, - UMLS:C4693694, - UMLS:C4693699 ; oboInOwl:hasExactSynonym "SCN3A", "nav1.3", "sodium channel, brain iia iii, alpha subunit", @@ -70042,7 +71824,11 @@ OMIM:182391 a owl:Class ; "sodium voltage-gated channel, alpha subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6328 ; - skos:exactMatch HGNC_symbol:SCN3A ; + skos:exactMatch UMLS:C1419861, + UMLS:C4693694, + UMLS:C4693699, + HGNC:10590, + HGNC_symbol:SCN3A ; biolink:category biolink:Gene . OMIM:182392 a owl:Class ; @@ -70051,7 +71837,6 @@ OMIM:182392 a owl:Class ; PMID:11992118, PMID:1846440, PMID:8188276 ; - oboInOwl:hasDbXref UMLS:C1419865 ; oboInOwl:hasExactSynonym "SCN7A", "sodium channel, neuronal iia vi, alpha subunit", "sodium channel, voltage-gated, iia vi, alpha subunit", @@ -70059,7 +71844,9 @@ OMIM:182392 a owl:Class ; "sodium voltage-gated channel, alpha subunit 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6332 ; - skos:exactMatch HGNC_symbol:SCN7A ; + skos:exactMatch UMLS:C1419865, + HGNC:10594, + HGNC_symbol:SCN7A ; biolink:category biolink:Gene . OMIM:182396 a owl:Class ; @@ -70070,21 +71857,22 @@ OMIM:182396 a owl:Class ; PMID:9657862 ; RO:0002525 CHR:9606chr14q24.1 ; RO:0003303 OMIM:619256 ; - oboInOwl:hasDbXref UMLS:C1420086 ; oboInOwl:hasExactSynonym "SLC10A1", "sodium/taurocholate cotransporting polypeptide", "sodium/taurocholate cotransporting polypeptide, hepatic", "solute carrier family 10 (sodium/bile acid cotransporter family), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6554 ; - skos:exactMatch HGNC_symbol:SLC10A1 ; + skos:exactMatch UMLS:C1420086, + HGNC:10905, + HGNC_symbol:SLC10A1 ; biolink:category biolink:Gene . OMIM:182400 a owl:Class ; rdfs:label "somatomedin, embryonic" ; IAO:0000142 PMID:6942423 ; - oboInOwl:hasDbXref UMLS:C1866879 ; - oboInOwl:hasExactSynonym "somatomedin, embryonic" . + oboInOwl:hasExactSynonym "somatomedin, embryonic" ; + skos:exactMatch UMLS:C1866879 . OMIM:182410 a owl:Class ; rdfs:label "sneddon syndrome" ; @@ -70100,10 +71888,10 @@ OMIM:182410 a owl:Class ; PMID:6652469, PMID:8145905, PMID:8466214 ; - oboInOwl:hasDbXref UMLS:C0282492 ; oboInOwl:hasExactSynonym "SNDNS", "livedo reticularis and cerebrovascular accidents", "sneddon syndrome" ; + skos:exactMatch UMLS:C0282492 ; biolink:category biolink:Disease . OMIM:182450 a owl:Class ; @@ -70119,7 +71907,6 @@ OMIM:182450 a owl:Class ; PMID:6133281, PMID:6142531, PMID:6196780 ; - oboInOwl:hasDbXref UMLS:C1335871 ; oboInOwl:hasExactSynonym "SST", "growth hormone inhibitory hormone", "neuronostatin", @@ -70129,7 +71916,9 @@ OMIM:182450 a owl:Class ; "somatostatin 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6750 ; - skos:exactMatch HGNC_symbol:SST ; + skos:exactMatch UMLS:C1335871, + HGNC:11329, + HGNC_symbol:SST ; biolink:category biolink:Gene . OMIM:182451 a owl:Class ; @@ -70139,12 +71928,13 @@ OMIM:182451 a owl:Class ; PMID:8132773, PMID:8449518, PMID:9226367 ; - oboInOwl:hasDbXref UMLS:C1335866 ; oboInOwl:hasExactSynonym "SSTR1", "somatostatin receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6751 ; - skos:exactMatch HGNC_symbol:SSTR1 ; + skos:exactMatch UMLS:C1335866, + HGNC:11330, + HGNC_symbol:SSTR1 ; biolink:category biolink:Gene . OMIM:182452 a owl:Class ; @@ -70164,12 +71954,13 @@ OMIM:182452 a owl:Class ; PMID:8620499, PMID:8978694, PMID:9226367 ; - oboInOwl:hasDbXref UMLS:C1335867 ; oboInOwl:hasExactSynonym "SSTR2", "somatostatin receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6752 ; - skos:exactMatch HGNC_symbol:SSTR2 ; + skos:exactMatch UMLS:C1335867, + HGNC:11331, + HGNC_symbol:SSTR2 ; biolink:category biolink:Gene . OMIM:182453 a owl:Class ; @@ -70178,12 +71969,13 @@ OMIM:182453 a owl:Class ; PMID:1337145, PMID:8449518, PMID:9226367 ; - oboInOwl:hasDbXref UMLS:C1335868 ; oboInOwl:hasExactSynonym "SSTR3", "somatostatin receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6753 ; - skos:exactMatch HGNC_symbol:SSTR3 ; + skos:exactMatch UMLS:C1335868, + HGNC:11332, + HGNC_symbol:SSTR3 ; biolink:category biolink:Gene . OMIM:182454 a owl:Class ; @@ -70192,12 +71984,13 @@ OMIM:182454 a owl:Class ; PMID:8244401, PMID:8483934, PMID:9226367 ; - oboInOwl:hasDbXref UMLS:C1335869 ; oboInOwl:hasExactSynonym "SSTR4", "somatostatin receptor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6754 ; - skos:exactMatch HGNC_symbol:SSTR4 ; + skos:exactMatch UMLS:C1335869, + HGNC:11333, + HGNC_symbol:SSTR4 ; biolink:category biolink:Gene . OMIM:182465 a owl:Class ; @@ -70214,12 +72007,13 @@ OMIM:182465 a owl:Class ; PMID:8031013 ; RO:0002525 CHR:9606chr21q22.11 ; RO:0003303 OMIM:617140 ; - oboInOwl:hasDbXref UMLS:C1420310 ; oboInOwl:hasExactSynonym "SON", "son dna-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6651 ; - skos:exactMatch HGNC_symbol:SON ; + skos:exactMatch UMLS:C1420310, + HGNC:11183, + HGNC_symbol:SON ; biolink:category biolink:Gene . OMIM:182500 a owl:Class ; @@ -70238,15 +72032,16 @@ OMIM:182500 a owl:Class ; PMID:9880675 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:618912 ; - oboInOwl:hasDbXref UMLS:C1420311, - UMLS:C5394466 ; oboInOwl:hasExactSynonym "SORD", "sorbitol dehydrogenase", "sorbitol dehydrogenase 1", "sorbitol dehydrogenase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6652 ; - skos:exactMatch HGNC_symbol:SORD ; + skos:exactMatch UMLS:C1420311, + UMLS:C5394466, + HGNC:11184, + HGNC_symbol:SORD ; biolink:category biolink:Gene . OMIM:182520 a owl:Class ; @@ -70255,14 +72050,15 @@ OMIM:182520 a owl:Class ; PMID:7873602, PMID:8561500, PMID:9668070 ; - oboInOwl:hasDbXref UMLS:C1420401 ; oboInOwl:hasExactSynonym "SRI", "mdr complex, class 4", "multidrug-resistance complex, class 4", "sorcin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6717 ; - skos:exactMatch HGNC_symbol:SRI ; + skos:exactMatch UMLS:C1420401, + HGNC:11292, + HGNC_symbol:SRI ; biolink:category biolink:Gene . OMIM:182530 a owl:Class ; @@ -70285,16 +72081,17 @@ OMIM:182530 a owl:Class ; PMID:9790532 ; RO:0002525 CHR:9606chr2p22.1 ; RO:0003303 OMIM:610733 ; - oboInOwl:hasDbXref UMLS:C1420314, - UMLS:C1853120, - UMLS:C4551558 ; oboInOwl:hasExactSynonym "SOS1", "son of sevenless, drosophila, homolog 1", "sos ras/rac guanine nucleotide exchange factor 1", "sos1 guanine nucleotide exchange factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6654 ; - skos:exactMatch HGNC_symbol:SOS1 ; + skos:exactMatch UMLS:C1420314, + UMLS:C1853120, + UMLS:C4551558, + HGNC:11187, + HGNC_symbol:SOS1 ; biolink:category biolink:Gene . OMIM:182590 a owl:Class ; @@ -70307,28 +72104,29 @@ OMIM:182590 a owl:Class ; PMID:9050913, PMID:9070946, PMID:9781055 ; - oboInOwl:hasDbXref UMLS:C1420701 ; oboInOwl:hasExactSynonym "TFF2", "spasmolytic protein 1", "trefoil factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7032 ; - skos:exactMatch HGNC_symbol:TFF2 ; + skos:exactMatch UMLS:C1420701, + HGNC:11756, + HGNC_symbol:TFF2 ; biolink:category biolink:Gene . OMIM:182610 a owl:Class ; rdfs:label "spastic paraplegia, epilepsy, and mental retardation" ; IAO:0000142 PMID:12567407, PMID:8456849 ; - oboInOwl:hasDbXref UMLS:C1866854 ; oboInOwl:hasExactSynonym "SPEMR", - "spastic paraplegia, epilepsy, and mental retardation" . + "spastic paraplegia, epilepsy, and mental retardation" ; + skos:exactMatch UMLS:C1866854 . OMIM:182690 a owl:Class ; rdfs:label "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy" ; IAO:0000142 PMID:3351903 ; - oboInOwl:hasDbXref UMLS:C1866853 ; - oboInOwl:hasExactSynonym "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy" . + oboInOwl:hasExactSynonym "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy" ; + skos:exactMatch UMLS:C1866853 . OMIM:182700 a owl:Class ; IAO:0100001 OMIM:270685 ; @@ -70344,7 +72142,6 @@ OMIM:182790 a owl:Class ; PMID:9927192 ; RO:0002525 CHR:9606chr2p16.2 ; RO:0003303 OMIM:619475 ; - oboInOwl:hasDbXref UMLS:C1420388 ; oboInOwl:hasExactSynonym "SPTBN1", "beta-g spectrin", "beta-spectrin, general form", @@ -70355,14 +72152,16 @@ OMIM:182790 a owl:Class ; "spectrin, nonerythroid, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6711 ; - skos:exactMatch HGNC_symbol:SPTBN1 ; + skos:exactMatch UMLS:C1420388, + HGNC:11275, + HGNC_symbol:SPTBN1 ; biolink:category biolink:Gene . OMIM:182800 a owl:Class ; rdfs:label "spastic paraplegia with associated extrapyramidal signs" ; IAO:0000142 PMID:13045451 ; - oboInOwl:hasDbXref UMLS:C1866852 ; - oboInOwl:hasExactSynonym "spastic paraplegia with associated extrapyramidal signs" . + oboInOwl:hasExactSynonym "spastic paraplegia with associated extrapyramidal signs" ; + skos:exactMatch UMLS:C1866852 . OMIM:182810 a owl:Class ; rdfs:label "SPTAN1" ; @@ -70380,9 +72179,6 @@ OMIM:182810 a owl:Class ; PMID:3336352 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:613477 ; - oboInOwl:hasDbXref UMLS:C1420386, - UMLS:C2986382, - UMLS:C3150731 ; oboInOwl:hasExactSynonym "SPTAN1", "fodrin, alpha", "spectrin, alpha, nonerythrocytic 1", @@ -70390,27 +72186,31 @@ OMIM:182810 a owl:Class ; "spectrin, nonerythroid, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6709 ; - skos:exactMatch HGNC_symbol:SPTAN1 ; + skos:exactMatch UMLS:C1420386, + UMLS:C2986382, + UMLS:C3150731, + HGNC:11273, + HGNC_symbol:SPTAN1 ; biolink:category biolink:Gene . OMIM:182815 a owl:Class ; rdfs:label "spastic paraplegia with neuropathy and poikiloderma" ; IAO:0000142 PMID:1623621 ; - oboInOwl:hasDbXref UMLS:C1866851 ; - oboInOwl:hasExactSynonym "spastic paraplegia with neuropathy and poikiloderma" . + oboInOwl:hasExactSynonym "spastic paraplegia with neuropathy and poikiloderma" ; + skos:exactMatch UMLS:C1866851 . OMIM:182820 a owl:Class ; rdfs:label "spastic paraplegia with precocious puberty" ; IAO:0000142 PMID:6639408 ; - oboInOwl:hasDbXref UMLS:C1866850 ; oboInOwl:hasExactSynonym "precocious puberty with spastic paraplegia", - "spastic paraplegia with precocious puberty" . + "spastic paraplegia with precocious puberty" ; + skos:exactMatch UMLS:C1866850 . OMIM:182830 a owl:Class ; rdfs:label "spastic paraplegia, optic atrophy, and dementia" ; IAO:0000142 PMID:1063327 ; - oboInOwl:hasDbXref UMLS:C1866849 ; - oboInOwl:hasExactSynonym "spastic paraplegia, optic atrophy, and dementia" . + oboInOwl:hasExactSynonym "spastic paraplegia, optic atrophy, and dementia" ; + skos:exactMatch UMLS:C1866849 . OMIM:182870 a owl:Class ; rdfs:label "SPTB" ; @@ -70447,20 +72247,21 @@ OMIM:182870 a owl:Class ; PMID:9887280 ; RO:0002525 CHR:9606chr14q23.3 ; RO:0003303 OMIM:616649 ; - oboInOwl:hasDbXref UMLS:C1420387 ; oboInOwl:hasExactSynonym "SPTB", "spectrin, beta, erythrocytic", "spectrin, beta-i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6710 ; - skos:exactMatch HGNC_symbol:SPTB ; + skos:exactMatch UMLS:C1420387, + HGNC:11274, + HGNC_symbol:SPTB ; biolink:category biolink:Gene . OMIM:182875 a owl:Class ; rdfs:label "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease" ; IAO:0000142 PMID:8423614 ; - oboInOwl:hasDbXref UMLS:C1866802 ; - oboInOwl:hasExactSynonym "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease" . + oboInOwl:hasExactSynonym "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease" ; + skos:exactMatch UMLS:C1866802 . OMIM:182878 a owl:Class ; rdfs:label "ODF1" ; @@ -70472,14 +72273,15 @@ OMIM:182878 a owl:Class ; PMID:8949892, PMID:9045620, PMID:9337410 ; - oboInOwl:hasDbXref UMLS:C1417935 ; oboInOwl:hasExactSynonym "ODF1", "outer dense fiber of sperm tails 1", "outer dense fiber of sperm tails, 27-kd", "sperm outer dense fiber" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4956 ; - skos:exactMatch HGNC_symbol:ODF1 ; + skos:exactMatch UMLS:C1417935, + HGNC:8113, + HGNC_symbol:ODF1 ; biolink:category biolink:Gene . OMIM:182879 a owl:Class ; @@ -70503,21 +72305,22 @@ OMIM:182880 a owl:Class ; PMID:3008352, PMID:3527226, PMID:7721781 ; - oboInOwl:hasDbXref UMLS:C1418939 ; oboInOwl:hasExactSynonym "PRM1", "sperm protamine p1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5619 ; - skos:exactMatch HGNC_symbol:PRM1 ; + skos:exactMatch UMLS:C1418939, + HGNC:9447, + HGNC_symbol:PRM1 ; biolink:category biolink:Gene . OMIM:182882 a owl:Class ; rdfs:label "sperm protamine p4" ; IAO:0000142 PMID:1889406, PMID:2384091 ; - oboInOwl:hasDbXref UMLS:C1866801 ; oboInOwl:hasExactSynonym "PRM4", - "sperm protamine p4" . + "sperm protamine p4" ; + skos:exactMatch UMLS:C1866801 . OMIM:182888 a owl:Class ; rdfs:label "ZP2" ; @@ -70529,13 +72332,14 @@ OMIM:182888 a owl:Class ; PMID:30810869 ; RO:0002525 CHR:9606chr16p12.3-p12.2 ; RO:0003303 OMIM:618353 ; - oboInOwl:hasDbXref UMLS:C1421865 ; oboInOwl:hasExactSynonym "ZP2", "sperm receptor, secondary", "zona pellucida glycoprotein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7783 ; - skos:exactMatch HGNC_symbol:ZP2 ; + skos:exactMatch UMLS:C1421865, + HGNC:13188, + HGNC_symbol:ZP2 ; biolink:category biolink:Gene . OMIM:182890 a owl:Class ; @@ -70546,25 +72350,27 @@ OMIM:182890 a owl:Class ; PMID:2370044, PMID:2614060, PMID:3412906 ; - oboInOwl:hasDbXref UMLS:C1418940 ; oboInOwl:hasExactSynonym "PRM2", "sperm protamine p2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5620 ; - skos:exactMatch HGNC_symbol:PRM2 ; + skos:exactMatch UMLS:C1418940, + HGNC:9448, + HGNC_symbol:PRM2 ; biolink:category biolink:Gene . OMIM:182891 a owl:Class ; rdfs:label "SRM" ; IAO:0000142 PMID:2069720, PMID:2344393 ; - oboInOwl:hasDbXref UMLS:C1420404 ; oboInOwl:hasExactSynonym "SRM", "spermidine synthase", "sps1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6723 ; - skos:exactMatch HGNC_symbol:SRM ; + skos:exactMatch UMLS:C1420404, + HGNC:11296, + HGNC_symbol:SRM ; biolink:category biolink:Gene . OMIM:182892 a owl:Class ; @@ -70578,8 +72384,8 @@ OMIM:182930 a owl:Class ; OMIM:182950 a owl:Class ; rdfs:label "spinal arachnoiditis" ; IAO:0000142 PMID:4816834 ; - oboInOwl:hasDbXref UMLS:C1710146 ; oboInOwl:hasExactSynonym "spinal arachnoiditis" ; + skos:exactMatch UMLS:C1710146 ; biolink:category biolink:Disease . OMIM:182970 a owl:Class ; @@ -70588,16 +72394,16 @@ OMIM:182970 a owl:Class ; PMID:6053568, PMID:615721, PMID:957378 ; - oboInOwl:hasDbXref UMLS:C1866783 ; oboInOwl:hasExactSynonym "fshsma", "spinal muscular atrophy, facioscapulohumeral iia" ; + skos:exactMatch UMLS:C1866783 ; biolink:category biolink:Disease . OMIM:182990 a owl:Class ; rdfs:label "spinal intradural arachnoid cysts" ; IAO:0000142 PMID:438888 ; - oboInOwl:hasDbXref UMLS:C0344485 ; - oboInOwl:hasExactSynonym "spinal intradural arachnoid cysts" . + oboInOwl:hasExactSynonym "spinal intradural arachnoid cysts" ; + skos:exactMatch UMLS:C0344485 . OMIM:183000 a owl:Class ; IAO:0100001 OMIM:137440 ; @@ -70605,15 +72411,15 @@ OMIM:183000 a owl:Class ; OMIM:183020 a owl:Class ; rdfs:label "spinal muscular atrophy, segmental" ; - oboInOwl:hasDbXref UMLS:C1866774 ; - oboInOwl:hasExactSynonym "spinal muscular atrophy, segmental" . + oboInOwl:hasExactSynonym "spinal muscular atrophy, segmental" ; + skos:exactMatch UMLS:C1866774 . OMIM:183050 a owl:Class ; rdfs:label "spinocerebellar ataxia with rigidity and peripheral neuropathy" ; IAO:0000142 PMID:14119693, PMID:4340377 ; - oboInOwl:hasDbXref UMLS:C1866770 ; oboInOwl:hasExactSynonym "spinocerebellar ataxia with rigidity and peripheral neuropathy" ; + skos:exactMatch UMLS:C1866770 ; biolink:category biolink:Disease . OMIM:183085 a owl:Class ; @@ -70622,8 +72428,8 @@ OMIM:183085 a owl:Class ; OMIM:183100 a owl:Class ; rdfs:label "spinocerebellar atrophy with pupillary paralysis" ; - oboInOwl:hasDbXref UMLS:C1866746 ; - oboInOwl:hasExactSynonym "spinocerebellar atrophy with pupillary paralysis" . + oboInOwl:hasExactSynonym "spinocerebellar atrophy with pupillary paralysis" ; + skos:exactMatch UMLS:C1866746 . OMIM:183250 a owl:Class ; owl:deprecated true . @@ -70635,66 +72441,66 @@ OMIM:183300 a owl:Class ; PMID:13275562, PMID:7137224, PMID:776323 ; - oboInOwl:hasDbXref UMLS:C1866745 ; oboInOwl:hasExactSynonym "sgfld syndrome", "splenogonadal fusion limb defect syndrome", - "splenogonadal fusion with limb defects and micrognathia" . + "splenogonadal fusion with limb defects and micrognathia" ; + skos:exactMatch UMLS:C1866745 . OMIM:183350 a owl:Class ; rdfs:label "splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells" ; IAO:0000142 PMID:2962629, PMID:7201903 ; - oboInOwl:hasDbXref UMLS:C1866744 ; - oboInOwl:hasExactSynonym "splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells" . + oboInOwl:hasExactSynonym "splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells" ; + skos:exactMatch UMLS:C1866744 . OMIM:183400 a owl:Class ; rdfs:label "split lower 51p" ; - oboInOwl:hasDbXref UMLS:C1866743 ; - oboInOwl:hasExactSynonym "split lower 51p" . + oboInOwl:hasExactSynonym "split lower 51p" ; + skos:exactMatch UMLS:C1866743 . OMIM:183500 a owl:Class ; rdfs:label "split-hand and split-foot with hypodontia" ; - oboInOwl:hasDbXref UMLS:C1866742 ; - oboInOwl:hasExactSynonym "split-hand and split-foot with hypodontia" . + oboInOwl:hasExactSynonym "split-hand and split-foot with hypodontia" ; + skos:exactMatch UMLS:C1866742 . OMIM:183700 a owl:Class ; rdfs:label "split-foot deformity with mandibulofacial dysostosis" ; IAO:0000142 PMID:14234106, PMID:4376815, PMID:9098499 ; - oboInOwl:hasDbXref UMLS:C1868114 ; oboInOwl:hasExactSynonym "patterson-stevenson-fontaine syndrome", - "split-foot deformity with mandibulofacial dysostosis" . + "split-foot deformity with mandibulofacial dysostosis" ; + skos:exactMatch UMLS:C1868114 . OMIM:183800 a owl:Class ; rdfs:label "split-hand with congenital nystagmus, fundal changes, and cataracts" ; IAO:0000142 PMID:14479171, PMID:3978843, PMID:9450888 ; - oboInOwl:hasDbXref UMLS:C1866740 ; oboInOwl:hasExactSynonym "karsch-neugebauer syndrome", "nystagmus-split hand syndrome", - "split-hand with congenital nystagmus, fundal changes, and cataracts" . + "split-hand with congenital nystagmus, fundal changes, and cataracts" ; + skos:exactMatch UMLS:C1866740 . OMIM:183802 a owl:Class ; rdfs:label "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" ; IAO:0000142 PMID:3308683 ; - oboInOwl:hasDbXref UMLS:C1866739 ; - oboInOwl:hasExactSynonym "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" . + oboInOwl:hasExactSynonym "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" ; + skos:exactMatch UMLS:C1866739 . OMIM:183849 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with hypotrichosis" ; IAO:0000142 PMID:2363424, PMID:7894736 ; - oboInOwl:hasDbXref UMLS:C1866728 ; oboInOwl:hasExactSynonym "spondyloepimetaphyseal dysplasia with hypotrichosis", - "whyte syndrome" . + "whyte syndrome" ; + skos:exactMatch UMLS:C1866728 . OMIM:183850 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia with punctate corneal dystrophy" ; IAO:0000142 PMID:414988 ; - oboInOwl:hasDbXref UMLS:C1866727 ; - oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia with punctate corneal dystrophy" . + oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia with punctate corneal dystrophy" ; + skos:exactMatch UMLS:C1866727 . OMIM:183900 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia congenita" ; @@ -70724,18 +72530,18 @@ OMIM:183900 a owl:Class ; PMID:7586642, PMID:7752132, PMID:8325895 ; - oboInOwl:hasDbXref UMLS:C2745959 ; oboInOwl:hasExactSynonym "SEDC", "sed congenita", "spondyloepiphyseal dysplasia congenita", "spondyloepiphyseal dysplasia, congenital iia" ; + skos:exactMatch UMLS:C2745959 ; biolink:category biolink:Disease . OMIM:184000 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" ; IAO:0000142 PMID:3681905 ; - oboInOwl:hasDbXref UMLS:C1866719 ; - oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" . + oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" ; + skos:exactMatch UMLS:C1866719 . OMIM:184095 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia, maroteaux iia" ; @@ -70743,10 +72549,10 @@ OMIM:184095 a owl:Class ; PMID:14755468, PMID:20503319, PMID:2229114 ; - oboInOwl:hasDbXref UMLS:C3159322 ; oboInOwl:hasExactSynonym "pseudo-morquio syndrome, iia 2", "sed, maroteaux iia", "spondyloepiphyseal dysplasia, maroteaux iia" ; + skos:exactMatch UMLS:C3159322 ; biolink:category biolink:Disease . OMIM:184200 a owl:Class ; @@ -70761,8 +72567,8 @@ OMIM:184200 a owl:Class ; PMID:5413907, PMID:668183, PMID:6761366 ; - oboInOwl:hasDbXref UMLS:C0038016 ; oboInOwl:hasExactSynonym "spondylolisthesis" ; + skos:exactMatch UMLS:C0038016 ; biolink:category biolink:Disease . OMIM:184250 a owl:Class ; @@ -70780,8 +72586,6 @@ OMIM:184250 a owl:Class ; PMID:6817636, PMID:6817637, PMID:7550321 ; - oboInOwl:hasDbXref UMLS:C0700635, - UMLS:C4759767 ; oboInOwl:hasExactSynonym "SEMDSTWK", "dappled metaphysis syndrome", "semd, strudwick iia", @@ -70793,6 +72597,8 @@ OMIM:184250 a owl:Class ; "spondylometaphyseal dysplasia", "strudwick syndrome" ; rdfs:subClassOf OMIMPS:184255 ; + skos:exactMatch UMLS:C0700635, + UMLS:C4759767 ; biolink:category biolink:Disease . OMIM:184252 a owl:Class ; @@ -70803,11 +72609,11 @@ OMIM:184252 a owl:Class ; PMID:4199241, PMID:4661491, PMID:8441154 ; - oboInOwl:hasDbXref UMLS:C0265280 ; oboInOwl:hasExactSynonym "SMDK", "smd, kozlowski iia", "spondylometaphyseal dysplasia, kozlowski iia" ; rdfs:subClassOf OMIMPS:184255 ; + skos:exactMatch UMLS:C0265280 ; biolink:category biolink:Disease . OMIM:184253 a owl:Class ; @@ -70816,17 +72622,17 @@ OMIM:184253 a owl:Class ; PMID:13991956, PMID:1951433, PMID:3368247 ; - oboInOwl:hasDbXref UMLS:C1866688 ; oboInOwl:hasExactSynonym "spondylometaphyseal dysplasia with severe genu valgum", "spondylometaphyseal dysplasia, algerian iia", - "spondylometaphyseal dysplasia, schmidt iia" . + "spondylometaphyseal dysplasia, schmidt iia" ; + skos:exactMatch UMLS:C1866688 . OMIM:184300 a owl:Class ; rdfs:label "spondylosis, cervical" ; IAO:0000142 PMID:5782795, PMID:668183 ; - oboInOwl:hasDbXref UMLS:C1384641 ; - oboInOwl:hasExactSynonym "spondylosis, cervical" . + oboInOwl:hasExactSynonym "spondylosis, cervical" ; + skos:exactMatch UMLS:C1384641 . OMIM:184400 a owl:Class ; rdfs:label "sprengel deformity" ; @@ -70835,9 +72641,9 @@ OMIM:184400 a owl:Class ; PMID:5116709, PMID:6078259, PMID:7277418 ; - oboInOwl:hasDbXref UMLS:C0152438 ; oboInOwl:hasExactSynonym "high scapula", "sprengel deformity" ; + skos:exactMatch UMLS:C0152438 ; biolink:category biolink:Disease . OMIM:184420 a owl:Class ; @@ -70850,13 +72656,14 @@ OMIM:184420 a owl:Class ; PMID:8020937 ; RO:0002525 CHR:9606chr8p23.1 ; RO:0003303 OMIM:618156 ; - oboInOwl:hasDbXref UMLS:C1414563 ; oboInOwl:hasExactSynonym "FDFT1", "farnesyldiphosphate farnesyltransferase 1", "squalene synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2222 ; - skos:exactMatch HGNC_symbol:FDFT1 ; + skos:exactMatch UMLS:C1414563, + HGNC:3629, + HGNC_symbol:FDFT1 ; biolink:category biolink:Gene . OMIM:184429 a owl:Class ; @@ -70916,15 +72723,16 @@ OMIM:184429 a owl:Class ; PMID:8741917 ; RO:0002525 CHR:9606chr3q26.33 ; RO:0003303 OMIM:206900 ; - oboInOwl:hasDbXref UMLS:C1420322, - UMLS:C1859773, - UMLS:C1859774 ; oboInOwl:hasExactSynonym "SOX2", "sry-box 2", "sry-related hmg-box gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6657 ; - skos:exactMatch HGNC_symbol:SOX2 ; + skos:exactMatch UMLS:C1420322, + UMLS:C1859773, + UMLS:C1859774, + HGNC:11195, + HGNC_symbol:SOX2 ; biolink:category biolink:Gene . OMIM:184430 a owl:Class ; @@ -70946,15 +72754,16 @@ OMIM:184430 a owl:Class ; PMID:9730625 ; RO:0002525 CHR:9606chr6p22.3 ; RO:0003303 OMIM:618506 ; - oboInOwl:hasDbXref UMLS:C1420327, - UMLS:C4760583 ; oboInOwl:hasExactSynonym "SOX4", "ecotropic viral integration site 16", "sry-box 4", "sry-related hmg-box gene 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6659 ; - skos:exactMatch HGNC_symbol:SOX4 ; + skos:exactMatch UMLS:C1420327, + UMLS:C4760583, + HGNC:11200, + HGNC_symbol:SOX4 ; biolink:category biolink:Gene . OMIM:184460 a owl:Class ; @@ -70966,11 +72775,11 @@ OMIM:184460 a owl:Class ; PMID:2319886, PMID:9220188, PMID:9851982 ; - oboInOwl:hasDbXref UMLS:C1866656 ; oboInOwl:hasExactSynonym "ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly", "stapes ankylosis syndrome without symphalangism", "stapes ankylosis with broad thumbs and toes", "teunissen-cremers syndrome" ; + skos:exactMatch UMLS:C1866656 ; biolink:category biolink:Disease . OMIM:184470 a owl:Class ; @@ -70978,21 +72787,22 @@ OMIM:184470 a owl:Class ; IAO:0000142 PMID:3426601, PMID:3502720, PMID:838735 ; - oboInOwl:hasDbXref UMLS:C1420455 ; oboInOwl:hasExactSynonym "STATH", "statherin", "str" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6779 ; - skos:exactMatch HGNC_symbol:STATH ; + skos:exactMatch UMLS:C1420455, + HGNC:11369, + HGNC_symbol:STATH ; biolink:category biolink:Gene . OMIM:184510 a owl:Class ; rdfs:label "steatocystoma multiplex with natal teeth" ; IAO:0000142 PMID:3429608, PMID:988984 ; - oboInOwl:hasDbXref UMLS:C1866650 ; - oboInOwl:hasExactSynonym "steatocystoma multiplex with natal teeth" . + oboInOwl:hasExactSynonym "steatocystoma multiplex with natal teeth" ; + skos:exactMatch UMLS:C1866650 . OMIM:184600 a owl:Class ; rdfs:label "CSTA" ; @@ -71011,14 +72821,15 @@ OMIM:184600 a owl:Class ; PMID:9651321 ; RO:0002525 CHR:9606chr3q21.1 ; RO:0003303 OMIM:607936 ; - oboInOwl:hasDbXref UMLS:C1413778 ; oboInOwl:hasExactSynonym "CSTA", "cystatin a", "stefin a", "stf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1475 ; - skos:exactMatch HGNC_symbol:CSTA ; + skos:exactMatch UMLS:C1413778, + HGNC:2481, + HGNC_symbol:CSTA ; biolink:category biolink:Gene . OMIM:184601 a owl:Class ; @@ -71029,8 +72840,8 @@ OMIM:184705 a owl:Class ; rdfs:label "steinfeld syndrome" ; IAO:0000142 PMID:20583155, PMID:8357025 ; - oboInOwl:hasDbXref UMLS:C1866649 ; - oboInOwl:hasExactSynonym "steinfeld syndrome" . + oboInOwl:hasExactSynonym "steinfeld syndrome" ; + skos:exactMatch UMLS:C1866649 . OMIM:184745 a owl:Class ; rdfs:label "KITLG" ; @@ -71056,7 +72867,6 @@ OMIM:184745 a owl:Class ; PMID:9778516 ; RO:0002525 CHR:9606chr12q21.32 ; RO:0003303 OMIM:611664 ; - oboInOwl:hasDbXref UMLS:C1366480 ; oboInOwl:hasExactSynonym "KITLG", "kit ligand", "kl", @@ -71066,7 +72876,9 @@ OMIM:184745 a owl:Class ; "steel, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4254 ; - skos:exactMatch HGNC_symbol:KITLG ; + skos:exactMatch UMLS:C1366480, + HGNC:6343, + HGNC_symbol:KITLG ; biolink:category biolink:Gene . OMIM:184747 a owl:Class ; @@ -71084,12 +72896,13 @@ OMIM:184753 a owl:Class ; PMID:2339109, PMID:7688765, PMID:9620288 ; - oboInOwl:hasDbXref UMLS:C1420395 ; oboInOwl:hasExactSynonym "SRD5A1", "steroid 5-alpha-reductase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6715 ; - skos:exactMatch HGNC_symbol:SRD5A1 ; + skos:exactMatch UMLS:C1420395, + HGNC:11284, + HGNC_symbol:SRD5A1 ; biolink:category biolink:Gene . OMIM:184754 a owl:Class ; @@ -71106,13 +72919,14 @@ OMIM:184755 a owl:Class ; PMID:8678992 ; RO:0002525 CHR:9606chr1p32.3 ; RO:0003303 OMIM:613724 ; - oboInOwl:hasDbXref UMLS:C1419874 ; oboInOwl:hasExactSynonym "SCP2", "sterol carrier protein 10", "sterol carrier protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6342 ; - skos:exactMatch HGNC_symbol:SCP2 ; + skos:exactMatch UMLS:C1419874, + HGNC:10606, + HGNC_symbol:SCP2 ; biolink:category biolink:Gene . OMIM:184756 a owl:Class ; @@ -71141,15 +72955,16 @@ OMIM:184756 a owl:Class ; PMID:9784493 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:158310 ; - oboInOwl:hasDbXref UMLS:C1274795, - UMLS:C1420398, - UMLS:C5436607 ; oboInOwl:hasExactSynonym "SREBF1", "sterol regulatory element-binding protein 1", "sterol regulatory element-binding transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6720 ; - skos:exactMatch HGNC_symbol:SREBF1 ; + skos:exactMatch UMLS:C1274795, + UMLS:C1420398, + UMLS:C5436607, + HGNC:11289, + HGNC_symbol:SREBF1 ; biolink:category biolink:Gene . OMIM:184757 a owl:Class ; @@ -71193,7 +73008,6 @@ OMIM:184757 a owl:Class ; PMID:9605934 ; RO:0002525 CHR:9606chr9q33.3 ; RO:0003303 OMIM:613957 ; - oboInOwl:hasDbXref UMLS:C1417838 ; oboInOwl:hasExactSynonym "NR5A1", "adrenal 4 binding protein", "fushi tarazu factor, drosophila, homolog 1", @@ -71201,15 +73015,17 @@ OMIM:184757 a owl:Class ; "steroidogenic factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2516 ; - skos:exactMatch HGNC_symbol:NR5A1 ; + skos:exactMatch UMLS:C1417838, + HGNC:7983, + HGNC_symbol:NR5A1 ; biolink:category biolink:Gene . OMIM:184800 a owl:Class ; rdfs:label "sternum, premature obliteration of sutures of" ; IAO:0000142 PMID:13542801, PMID:4382085 ; - oboInOwl:hasDbXref UMLS:C1861485 ; - oboInOwl:hasExactSynonym "sternum, premature obliteration of sutures of" . + oboInOwl:hasExactSynonym "sternum, premature obliteration of sutures of" ; + skos:exactMatch UMLS:C1861485 . OMIM:184850 a owl:Class ; rdfs:label "stiff-person syndrome" ; @@ -71238,13 +73054,13 @@ OMIM:184850 a owl:Class ; PMID:7936291, PMID:8164018, PMID:8381208 ; - oboInOwl:hasDbXref UMLS:C0085292, - UMLS:C1861457 ; oboInOwl:hasExactSynonym "SPS", "progressive encephalomyelitis with rigidity", "stiff-man syndrome", "stiff-person syndrome", "stiff-trunk syndrome" ; + skos:exactMatch UMLS:C0085292, + UMLS:C1861457 ; biolink:category biolink:Disease . OMIM:184900 a owl:Class ; @@ -71253,9 +73069,9 @@ OMIM:184900 a owl:Class ; PMID:24107997, PMID:5100776, PMID:5718921 ; - oboInOwl:hasDbXref UMLS:C1861456 ; oboInOwl:hasExactSynonym "SSKS", "stiff skin syndrome" ; + skos:exactMatch UMLS:C1861456 ; biolink:category biolink:Disease . OMIM:185010 a owl:Class ; @@ -71274,10 +73090,10 @@ OMIM:185020 a owl:Class ; PMID:16227998, PMID:20015879, PMID:7831176 ; - oboInOwl:hasDbXref UMLS:C1861453 ; oboInOwl:hasExactSynonym "CHC", "cryohydrocytosis", "stomatocytosis, cold-sensitive" ; + skos:exactMatch UMLS:C1861453 ; biolink:category biolink:Disease . OMIM:185050 a owl:Class ; @@ -71293,29 +73109,29 @@ OMIM:185050 a owl:Class ; PMID:5481508, PMID:6449150, PMID:6696991 ; - oboInOwl:hasDbXref UMLS:C0032197 ; oboInOwl:hasExactSynonym "storage pool platelet disease" ; + skos:exactMatch UMLS:C0032197 ; biolink:category biolink:Disease . OMIM:185069 a owl:Class ; rdfs:label "storm syndrome" ; - oboInOwl:hasDbXref UMLS:C1861452 ; - oboInOwl:hasExactSynonym "storm syndrome" . + oboInOwl:hasExactSynonym "storm syndrome" ; + skos:exactMatch UMLS:C1861452 . OMIM:185120 a owl:Class ; rdfs:label "stratton-parker syndrome" ; IAO:0000142 PMID:15211658, PMID:2564736, PMID:8209896 ; - oboInOwl:hasDbXref UMLS:C1861448 ; oboInOwl:hasExactSynonym "growth hormone deficiency with wormian bones, cardiac anomaly, and brachycamptodactyly", - "stratton-parker syndrome" . + "stratton-parker syndrome" ; + skos:exactMatch UMLS:C1861448 . OMIM:185200 a owl:Class ; rdfs:label "striae distensae, familial" ; IAO:0000142 PMID:4236069 ; - oboInOwl:hasDbXref UMLS:C1861447 ; oboInOwl:hasExactSynonym "striae distensae, familial" ; + skos:exactMatch UMLS:C1861447 ; biolink:category biolink:Disease . OMIM:185250 a owl:Class ; @@ -71353,14 +73169,15 @@ OMIM:185250 a owl:Class ; PMID:9888422 ; RO:0002525 CHR:9606chr11q22.2 ; RO:0003303 OMIM:614466 ; - oboInOwl:hasDbXref UMLS:C1366358 ; oboInOwl:hasExactSynonym "MMP3", "matrix metalloproteinase 3", "stromelysin 1", "transin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4314 ; - skos:exactMatch HGNC_symbol:MMP3 ; + skos:exactMatch UMLS:C1366358, + HGNC:7173, + HGNC_symbol:MMP3 ; biolink:category biolink:Gene . OMIM:185260 a owl:Class ; @@ -71374,13 +73191,14 @@ OMIM:185260 a owl:Class ; PMID:9427548, PMID:9578462, PMID:9662124 ; - oboInOwl:hasDbXref UMLS:C1417200 ; oboInOwl:hasExactSynonym "MMP10", "matrix metalloproteinase 10", "stromelysin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4319 ; - skos:exactMatch HGNC_symbol:MMP10 ; + skos:exactMatch UMLS:C1417200, + HGNC:7156, + HGNC_symbol:MMP10 ; biolink:category biolink:Gene . OMIM:185261 a owl:Class ; @@ -71388,13 +73206,14 @@ OMIM:185261 a owl:Class ; IAO:0000142 PMID:1639418, PMID:2132731, PMID:7746327 ; - oboInOwl:hasDbXref UMLS:C1366519 ; oboInOwl:hasExactSynonym "MMP11", "matrix metalloproteinase 11", "stromelysin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4320 ; - skos:exactMatch HGNC_symbol:MMP11 ; + skos:exactMatch UMLS:C1366519, + HGNC:7157, + HGNC_symbol:MMP11 ; biolink:category biolink:Gene . OMIM:185400 a owl:Class ; @@ -71430,7 +73249,6 @@ OMIM:185430 a owl:Class ; PMID:8431639, PMID:8774959, PMID:9109446 ; - oboInOwl:hasDbXref UMLS:C1413514 ; oboInOwl:hasExactSynonym "CLU", "apolipoprotein j", "clusterin", @@ -71440,17 +73258,19 @@ OMIM:185430 a owl:Class ; "testosterone-repressed prostate message 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1191 ; - skos:exactMatch HGNC_symbol:CLU ; + skos:exactMatch UMLS:C1413514, + HGNC:2095, + HGNC_symbol:CLU ; biolink:category biolink:Gene . OMIM:185440 a owl:Class ; rdfs:label "ST2" ; IAO:0000142 PMID:2828520 ; - oboInOwl:hasDbXref UMLS:C1420442 ; oboInOwl:hasExactSynonym "ST2", "suppressor of tumorigenicity 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6761 ; + skos:exactMatch UMLS:C1420442 ; biolink:category biolink:Gene . OMIM:185450 a owl:Class ; @@ -71459,8 +73279,8 @@ OMIM:185450 a owl:Class ; OMIM:185460 a owl:Class ; rdfs:label "sulfhemoglobinemia, congenital" ; IAO:0000142 PMID:13463705 ; - oboInOwl:hasDbXref UMLS:C1861437 ; - oboInOwl:hasExactSynonym "sulfhemoglobinemia, congenital" . + oboInOwl:hasExactSynonym "sulfhemoglobinemia, congenital" ; + skos:exactMatch UMLS:C1861437 . OMIM:185470 a owl:Class ; rdfs:label "SDHB" ; @@ -71505,14 +73325,15 @@ OMIM:185470 a owl:Class ; PMID:9509062 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:171300 ; - oboInOwl:hasDbXref UMLS:C1419907 ; oboInOwl:hasExactSynonym "SDHB", "sdh2, homolog of", "succinate dehydrogenase 2, s. cerevisiae, homolog of", "succinate dehydrogenase complex, subunit b, iron sulfur protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6390 ; - skos:exactMatch HGNC_symbol:SDHB ; + skos:exactMatch UMLS:C1419907, + HGNC:10681, + HGNC_symbol:SDHB ; biolink:category biolink:Gene . OMIM:185480 a owl:Class ; @@ -71520,9 +73341,9 @@ OMIM:185480 a owl:Class ; IAO:0000142 PMID:13357872, PMID:17994559, PMID:3955865 ; - oboInOwl:hasDbXref UMLS:C0796204 ; oboInOwl:hasExactSynonym "suprabulbar paresis, congenital", - "worster-drought syndrome" . + "worster-drought syndrome" ; + skos:exactMatch UMLS:C0796204 . OMIM:185490 a owl:Class ; rdfs:label "SOD3" ; @@ -71536,7 +73357,6 @@ OMIM:185490 a owl:Class ; PMID:7959763, PMID:8034674 ; RO:0002525 CHR:9606chr4p15.2 ; - oboInOwl:hasDbXref UMLS:C1420308 ; oboInOwl:hasExactSynonym "SOD3", "ec-sod", "superoxide dismutase 3", @@ -71544,27 +73364,29 @@ OMIM:185490 a owl:Class ; "superoxide dismutase, extracellular" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6649 ; - skos:exactMatch HGNC_symbol:SOD3 ; + skos:exactMatch UMLS:C1420308, + HGNC:11181, + HGNC_symbol:SOD3 ; biolink:category biolink:Gene . OMIM:185510 a owl:Class ; rdfs:label "S5" ; IAO:0000142 PMID:4362641, PMID:752483 ; - oboInOwl:hasDbXref UMLS:C1861425 ; oboInOwl:hasExactSynonym "S5", "surface antigen 5" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1861425 ; biolink:category biolink:Gene . OMIM:185520 a owl:Class ; rdfs:label "S6" ; IAO:0000142 PMID:193988, PMID:752483 ; - oboInOwl:hasDbXref UMLS:C1861424 ; oboInOwl:hasExactSynonym "S6", "surface antigen 6" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1861424 ; biolink:category biolink:Gene . OMIM:185540 a owl:Class ; @@ -71572,44 +73394,44 @@ OMIM:185540 a owl:Class ; IAO:0000142 PMID:53123, PMID:667938, PMID:6857445 ; - oboInOwl:hasDbXref UMLS:C1861423 ; oboInOwl:hasExactSynonym "surface antigen, glycoprotein 75", - "surface glycoprotein 75" . + "surface glycoprotein 75" ; + skos:exactMatch UMLS:C1861423 . OMIM:185560 a owl:Class ; rdfs:label "S8" ; IAO:0000142 PMID:378562 ; - oboInOwl:hasDbXref UMLS:C1861422 ; oboInOwl:hasExactSynonym "S8", "surface antigen 8" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1861422 ; biolink:category biolink:Gene . OMIM:185570 a owl:Class ; rdfs:label "SA17" ; IAO:0000142 PMID:193988 ; - oboInOwl:hasDbXref UMLS:C1861421 ; oboInOwl:hasExactSynonym "SA17", "s9", "surface antigen 17" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1861421 ; biolink:category biolink:Gene . OMIM:185580 a owl:Class ; rdfs:label "S13" ; - oboInOwl:hasDbXref UMLS:C1861420 ; oboInOwl:hasExactSynonym "S13", "surface antigen 22" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1861420 ; biolink:category biolink:Gene . OMIM:185590 a owl:Class ; rdfs:label "S14" ; IAO:0000142 PMID:7140359 ; - oboInOwl:hasDbXref UMLS:C1861419 ; oboInOwl:hasExactSynonym "S14", "surface antigen 21" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1861419 ; biolink:category biolink:Gene . OMIM:185595 a owl:Class ; @@ -71618,8 +73440,8 @@ OMIM:185595 a owl:Class ; OMIM:185600 a owl:Class ; rdfs:label "symphalangism of toes" ; IAO:0000142 PMID:5850177 ; - oboInOwl:hasDbXref UMLS:C1861418 ; - oboInOwl:hasExactSynonym "symphalangism of toes" . + oboInOwl:hasExactSynonym "symphalangism of toes" ; + skos:exactMatch UMLS:C1861418 . OMIM:185605 a owl:Class ; rdfs:label "SYT1" ; @@ -71649,22 +73471,23 @@ OMIM:185605 a owl:Class ; PMID:8747928 ; RO:0002525 CHR:9606chr12q21.2 ; RO:0003303 OMIM:618218 ; - oboInOwl:hasDbXref UMLS:C1420556 ; oboInOwl:hasExactSynonym "SYT1", "p65", "synaptotagmin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6857 ; - skos:exactMatch HGNC_symbol:SYT1 ; + skos:exactMatch UMLS:C1420556, + HGNC:11509, + HGNC_symbol:SYT1 ; biolink:category biolink:Gene . OMIM:185610 a owl:Class ; rdfs:label "surface polypeptides, anonymous" ; IAO:0000142 PMID:6861528 ; - oboInOwl:hasDbXref UMLS:C1861417 ; oboInOwl:hasExactSynonym "spa2", "spa5", - "surface polypeptides, anonymous" . + "surface polypeptides, anonymous" ; + skos:exactMatch UMLS:C1861417 . OMIM:185620 a owl:Class ; rdfs:label "SURF1" ; @@ -71693,14 +73516,15 @@ OMIM:185620 a owl:Class ; PMID:9843204 ; RO:0002525 CHR:9606chr9q34.2 ; RO:0003303 OMIM:220110 ; - oboInOwl:hasDbXref UMLS:C1420527, - UMLS:C4225246, - UMLS:C5435656 ; oboInOwl:hasExactSynonym "SURF1", "surfeit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6834 ; - skos:exactMatch HGNC_symbol:SURF1 ; + skos:exactMatch UMLS:C1420527, + UMLS:C4225246, + UMLS:C5435656, + HGNC:11474, + HGNC_symbol:SURF1 ; biolink:category biolink:Gene . OMIM:185630 a owl:Class ; @@ -71708,12 +73532,13 @@ OMIM:185630 a owl:Class ; IAO:0000142 PMID:7702754, PMID:8499913, PMID:9740673 ; - oboInOwl:hasDbXref UMLS:C1420528 ; oboInOwl:hasExactSynonym "SURF2", "surfeit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6835 ; - skos:exactMatch HGNC_symbol:SURF2 ; + skos:exactMatch UMLS:C1420528, + HGNC:11475, + HGNC_symbol:SURF2 ; biolink:category biolink:Gene . OMIM:185640 a owl:Class ; @@ -71723,13 +73548,14 @@ OMIM:185640 a owl:Class ; PMID:8499913, PMID:8800442, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1335639 ; oboInOwl:hasExactSynonym "RPL7A", "ribosomal protein l7a", "surfeit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6130 ; - skos:exactMatch HGNC_symbol:RPL7A ; + skos:exactMatch UMLS:C1335639, + HGNC:10364, + HGNC_symbol:RPL7A ; biolink:category biolink:Gene . OMIM:185641 a owl:Class ; @@ -71738,13 +73564,14 @@ OMIM:185641 a owl:Class ; PMID:12584197, PMID:8499913, PMID:9196076 ; - oboInOwl:hasDbXref UMLS:C1420530 ; oboInOwl:hasExactSynonym "MED22", "mediator complex subunit 22", "surfeit 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6837 ; - skos:exactMatch HGNC_symbol:MED22 ; + skos:exactMatch UMLS:C1420530, + HGNC:11477, + HGNC_symbol:MED22 ; biolink:category biolink:Gene . OMIM:185642 a owl:Class ; @@ -71754,20 +73581,21 @@ OMIM:185642 a owl:Class ; PMID:8499913, PMID:8639267, PMID:9548374 ; - oboInOwl:hasDbXref UMLS:C1420531 ; oboInOwl:hasExactSynonym "SURF6", "surfeit 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6838 ; - skos:exactMatch HGNC_symbol:SURF6 ; + skos:exactMatch UMLS:C1420531, + HGNC:11478, + HGNC_symbol:SURF6 ; biolink:category biolink:Gene . OMIM:185650 a owl:Class ; rdfs:label "symphalangism, c. s. lewis iia" ; IAO:0000142 PMID:6631421 ; - oboInOwl:hasDbXref UMLS:C1861404 ; oboInOwl:hasExactSynonym "symphalangism, c. s. lewis iia", - "thumbs, stiff" . + "thumbs, stiff" ; + skos:exactMatch UMLS:C1861404 . OMIM:185660 a owl:Class ; rdfs:label "SURF4" ; @@ -71775,13 +73603,14 @@ OMIM:185660 a owl:Class ; PMID:7540914, PMID:9196076, PMID:9740673 ; - oboInOwl:hasDbXref UMLS:C1420529 ; oboInOwl:hasExactSynonym "SURF4", "erv29, s. cerevisiae, homolog of", "surfeit 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6836 ; - skos:exactMatch HGNC_symbol:SURF4 ; + skos:exactMatch UMLS:C1420529, + HGNC:11476, + HGNC_symbol:SURF4 ; biolink:category biolink:Gene . OMIM:185700 a owl:Class ; @@ -71790,17 +73619,17 @@ OMIM:185700 a owl:Class ; PMID:18912544, PMID:2061594, PMID:3436086 ; - oboInOwl:hasDbXref UMLS:C1861401 ; oboInOwl:hasExactSynonym "sym2", "symphalangism, distal" ; + skos:exactMatch UMLS:C1861401 ; biolink:category biolink:Disease . OMIM:185750 a owl:Class ; rdfs:label "symphalangism with multiple anomalies of hands and feet" ; IAO:0000142 PMID:6272576 ; - oboInOwl:hasDbXref UMLS:C1861391, - ORPHA:3246 ; - oboInOwl:hasExactSynonym "symphalangism with multiple anomalies of hands and feet" . + oboInOwl:hasExactSynonym "symphalangism with multiple anomalies of hands and feet" ; + skos:exactMatch UMLS:C1861391, + ORPHA:3246 . OMIM:185800 a owl:Class ; rdfs:label "symphalangism, proximal, 1a" ; @@ -71817,13 +73646,13 @@ OMIM:185800 a owl:Class ; PMID:7557985, PMID:759895, PMID:967566 ; - oboInOwl:hasDbXref UMLS:C3714899 ; oboInOwl:hasExactSynonym "SYM1A", "cushing symphalangism", "hereditary absence of the proximal interphalangeal joints", "sym1", "symphalangism, proximal, 1a" ; rdfs:subClassOf OMIMPS:185800 ; + skos:exactMatch UMLS:C3714899 ; biolink:category biolink:Disease . OMIM:185860 a owl:Class ; @@ -71833,13 +73662,14 @@ OMIM:185860 a owl:Class ; PMID:16543415, PMID:7681585, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1427005 ; oboInOwl:hasExactSynonym "SV2A", "synaptic vesicle glycoprotein 2", "synaptic vesicle glycoprotein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9900 ; - skos:exactMatch HGNC_symbol:SV2A ; + skos:exactMatch UMLS:C1427005, + HGNC:20566, + HGNC_symbol:SV2A ; biolink:category biolink:Gene . OMIM:185861 a owl:Class ; @@ -71849,13 +73679,14 @@ OMIM:185861 a owl:Class ; PMID:16543415, PMID:7681585, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1424609 ; oboInOwl:hasExactSynonym "SV2B", "kiaa0735", "synaptic vesicle glycoprotein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9899 ; - skos:exactMatch HGNC_symbol:SV2B ; + skos:exactMatch UMLS:C1424609, + HGNC:16874, + HGNC_symbol:SV2B ; biolink:category biolink:Gene . OMIM:185880 a owl:Class ; @@ -71874,13 +73705,14 @@ OMIM:185880 a owl:Class ; PMID:9658161 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:108600 ; - oboInOwl:hasDbXref UMLS:C1421418 ; oboInOwl:hasExactSynonym "VAMP1", "synaptobrevin 1", "vesicle-associated membrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6843 ; - skos:exactMatch HGNC_symbol:VAMP1 ; + skos:exactMatch UMLS:C1421418, + HGNC:12642, + HGNC_symbol:VAMP1 ; biolink:category biolink:Gene . OMIM:185881 a owl:Class ; @@ -71903,15 +73735,16 @@ OMIM:185881 a owl:Class ; PMID:9529252 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:618760 ; - oboInOwl:hasDbXref UMLS:C1421419, - UMLS:C5231518, - UMLS:C5231519 ; oboInOwl:hasExactSynonym "VAMP2", "synaptobrevin 2", "vesicle-associated membrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6844 ; - skos:exactMatch HGNC_symbol:VAMP2 ; + skos:exactMatch UMLS:C1421419, + UMLS:C5231518, + UMLS:C5231519, + HGNC:12643, + HGNC_symbol:VAMP2 ; biolink:category biolink:Gene . OMIM:186200 a owl:Class ; @@ -71923,12 +73756,12 @@ OMIM:186200 a owl:Class ; PMID:19291772, PMID:19847792, PMID:24456159 ; - oboInOwl:hasDbXref UMLS:C1861355 ; oboInOwl:hasExactSynonym "SDTY4", "haas iia syndactyly", "polysyndactyly, haas iia", "sd4", "syndactyly, iia 4" ; + skos:exactMatch UMLS:C1861355 ; biolink:category biolink:Disease . OMIM:186300 a owl:Class ; @@ -71937,17 +73770,17 @@ OMIM:186300 a owl:Class ; PMID:16261692, PMID:17236141, PMID:6283889 ; - oboInOwl:hasDbXref UMLS:C1861348 ; oboInOwl:hasExactSynonym "SDTY5", "syndactyly with metacarpal and metatarsal fusion", "syndactyly, iia 5" ; + skos:exactMatch UMLS:C1861348 ; biolink:category biolink:Disease . OMIM:186350 a owl:Class ; rdfs:label "syndactyly-polydactyly-earlobe syndrome" ; - oboInOwl:hasDbXref UMLS:C1861347 ; oboInOwl:hasExactSynonym "spel syndrome", "syndactyly-polydactyly-earlobe syndrome" ; + skos:exactMatch UMLS:C1861347 ; biolink:category biolink:Disease . OMIM:186355 a owl:Class ; @@ -71963,7 +73796,6 @@ OMIM:186355 a owl:Class ; PMID:2519615, PMID:30918400, PMID:7959737 ; - oboInOwl:hasDbXref UMLS:C1419891 ; oboInOwl:hasExactSynonym "SDC1", "cd138 antigen", "synd1", @@ -71971,7 +73803,9 @@ OMIM:186355 a owl:Class ; "syndecan 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6382 ; - skos:exactMatch HGNC_symbol:SDC1 ; + skos:exactMatch UMLS:C1419891, + HGNC:10658, + HGNC_symbol:SDC1 ; biolink:category biolink:Gene . OMIM:186357 a owl:Class ; @@ -71987,7 +73821,6 @@ OMIM:186357 a owl:Class ; PMID:7959737 ; RO:0002525 CHR:9606chr1p35.2 ; RO:0003303 OMIM:601665 ; - oboInOwl:hasDbXref UMLS:C1419893 ; oboInOwl:hasExactSynonym "SDC3", "n-syndecan", "synd3", @@ -71995,7 +73828,9 @@ OMIM:186357 a owl:Class ; "syndecan, neural iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9672 ; - skos:exactMatch HGNC_symbol:SDC3 ; + skos:exactMatch UMLS:C1419893, + HGNC:10660, + HGNC_symbol:SDC3 ; biolink:category biolink:Gene . OMIM:186360 a owl:Class ; @@ -72009,14 +73844,15 @@ OMIM:186360 a owl:Class ; PMID:7515686, PMID:8053909, PMID:8855260 ; - oboInOwl:hasDbXref UMLS:C1412427 ; oboInOwl:hasExactSynonym "ANXA7", "annexin 7", "annexin a7", "synexin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:310 ; - skos:exactMatch HGNC_symbol:ANXA7 ; + skos:exactMatch UMLS:C1412427, + HGNC:545, + HGNC_symbol:ANXA7 ; biolink:category biolink:Gene . OMIM:186400 a owl:Class ; @@ -72024,9 +73860,9 @@ OMIM:186400 a owl:Class ; IAO:0000142 PMID:13475416, PMID:14133342, PMID:5923185 ; - oboInOwl:hasDbXref UMLS:C1876184 ; oboInOwl:hasExactSynonym "calcaneonavicular coalition", "synostoses, tarsal, carpal, and digital" ; + skos:exactMatch UMLS:C1876184 ; biolink:category biolink:Disease . OMIM:186500 a owl:Class ; @@ -72047,7 +73883,6 @@ OMIM:186500 a owl:Class ; PMID:6465200, PMID:6638061, PMID:9634519 ; - oboInOwl:hasDbXref UMLS:C0342282 ; oboInOwl:hasExactSynonym "SYNS1", "deafness-symphalangism syndrome of herrmann", "facioaudiosymphalangism syndrome", @@ -72056,14 +73891,15 @@ OMIM:186500 a owl:Class ; "synostoses, multiple, with brachydactyly", "wl syndrome" ; rdfs:subClassOf OMIMPS:186500 ; + skos:exactMatch UMLS:C0342282 ; biolink:category biolink:Disease . OMIM:186575 a owl:Class ; rdfs:label "synovial chondromatosis, familial, with dwarfism" ; IAO:0000142 PMID:1733839, PMID:2914993 ; - oboInOwl:hasDbXref UMLS:C1861304 ; - oboInOwl:hasExactSynonym "synovial chondromatosis, familial, with dwarfism" . + oboInOwl:hasExactSynonym "synovial chondromatosis, familial, with dwarfism" ; + skos:exactMatch UMLS:C1861304 . OMIM:186590 a owl:Class ; rdfs:label "STX1A" ; @@ -72090,7 +73926,6 @@ OMIM:186590 a owl:Class ; PMID:9177791, PMID:9529252, PMID:9753330 ; - oboInOwl:hasDbXref UMLS:C1420498 ; oboInOwl:hasExactSynonym "STX1A", "p35-1", "syntaxin 1", @@ -72098,7 +73933,9 @@ OMIM:186590 a owl:Class ; "syntaxin, brain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6804 ; - skos:exactMatch HGNC_symbol:STX1A ; + skos:exactMatch UMLS:C1420498, + HGNC:11433, + HGNC_symbol:STX1A ; biolink:category biolink:Gene . OMIM:186591 a owl:Class ; @@ -72109,7 +73946,6 @@ OMIM:186591 a owl:Class ; PMID:7690687, PMID:8206394, PMID:8770861 ; - oboInOwl:hasDbXref UMLS:C1823142 ; oboInOwl:hasExactSynonym "STX4", "p35-2", "stx4a", @@ -72117,7 +73953,9 @@ OMIM:186591 a owl:Class ; "syntaxin, placental" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6810 ; - skos:exactMatch HGNC_symbol:STX4 ; + skos:exactMatch UMLS:C1823142, + HGNC:11439, + HGNC_symbol:STX4 ; biolink:category biolink:Gene . OMIM:186600 a owl:Class ; @@ -72126,8 +73964,8 @@ OMIM:186600 a owl:Class ; PMID:14829859, PMID:4262390, PMID:4333915 ; - oboInOwl:hasDbXref UMLS:C1861302 ; - oboInOwl:hasExactSynonym "syringomas, multiple" . + oboInOwl:hasExactSynonym "syringomas, multiple" ; + skos:exactMatch UMLS:C1861302 . OMIM:186690 a owl:Class ; owl:deprecated true . @@ -72136,8 +73974,8 @@ OMIM:186710 a owl:Class ; IAO:0000142 PMID:3259339, PMID:8101391 ; IAO:0100001 OMIM:102720 ; - oboInOwl:hasDbXref UMLS:C1861300 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1861300 . OMIM:186711 a owl:Class ; rdfs:label "CD27" ; @@ -72150,14 +73988,15 @@ OMIM:186711 a owl:Class ; PMID:9177220 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:615122 ; - oboInOwl:hasDbXref UMLS:C1824668 ; oboInOwl:hasExactSynonym "CD27", "cd27 antigen", "t-cell activation antigen s152", "tumor necrosis factor receptor superfamily, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:939 ; - skos:exactMatch HGNC_symbol:CD27 ; + skos:exactMatch UMLS:C1824668, + HGNC:11922, + HGNC_symbol:CD27 ; biolink:category biolink:Gene . OMIM:186720 a owl:Class ; @@ -72173,13 +74012,14 @@ OMIM:186720 a owl:Class ; PMID:7594475, PMID:8781125, PMID:9013954 ; - oboInOwl:hasDbXref UMLS:C1413232 ; oboInOwl:hasExactSynonym "CD6", "cd6 antigen", "t-cell differentiation antigen cd6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:923 ; - skos:exactMatch HGNC_symbol:CD6 ; + skos:exactMatch UMLS:C1413232, + HGNC:1691, + HGNC_symbol:CD6 ; biolink:category biolink:Gene . OMIM:186730 a owl:Class ; @@ -72191,14 +74031,15 @@ OMIM:186730 a owl:Class ; PMID:3257101, PMID:8346216, PMID:8575821 ; - oboInOwl:hasDbXref UMLS:C1824666 ; oboInOwl:hasExactSynonym "CD8B", "cd8 antigen, beta polypeptide", "cd8b1", "t-cell glycoprotein cd8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:926 ; - skos:exactMatch HGNC_symbol:CD8B ; + skos:exactMatch UMLS:C1824666, + HGNC:1707, + HGNC_symbol:CD8B ; biolink:category biolink:Gene . OMIM:186740 a owl:Class ; @@ -72218,14 +74059,15 @@ OMIM:186740 a owl:Class ; PMID:2973415 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:615607 ; - oboInOwl:hasDbXref UMLS:C1413223 ; oboInOwl:hasExactSynonym "CD3G", "cd3 antigen, gamma subunit", "cd3-gamma", "t-cell antigen receptor complex, gamma subunit of t3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:917 ; - skos:exactMatch HGNC_symbol:CD3G ; + skos:exactMatch UMLS:C1413223, + HGNC:1675, + HGNC_symbol:CD3G ; biolink:category biolink:Gene . OMIM:186745 a owl:Class ; @@ -72241,20 +74083,21 @@ OMIM:186745 a owl:Class ; PMID:2120593, PMID:24162846, PMID:7635475 ; - oboInOwl:hasDbXref UMLS:C1420760 ; oboInOwl:hasExactSynonym "TLN1", "talin", "talin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7094 ; - skos:exactMatch HGNC_symbol:TLN1 ; + skos:exactMatch UMLS:C1420760, + HGNC:11845, + HGNC_symbol:TLN1 ; biolink:category biolink:Gene . OMIM:186750 a owl:Class ; rdfs:label "talonavicular coalition" ; IAO:0000142 PMID:4436362 ; - oboInOwl:hasDbXref UMLS:C1861296 ; - oboInOwl:hasExactSynonym "talonavicular coalition" . + oboInOwl:hasExactSynonym "talonavicular coalition" ; + skos:exactMatch UMLS:C1861296 . OMIM:186760 a owl:Class ; rdfs:label "CD28" ; @@ -72272,14 +74115,15 @@ OMIM:186760 a owl:Class ; PMID:28280247, PMID:28280249, PMID:2833438 ; - oboInOwl:hasDbXref UMLS:C1332709 ; oboInOwl:hasExactSynonym "CD28", "antigen cd28", "t-cell antigen cd28", "tp44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:940 ; - skos:exactMatch HGNC_symbol:CD28 ; + skos:exactMatch UMLS:C1332709, + HGNC:1653, + HGNC_symbol:CD28 ; biolink:category biolink:Gene . OMIM:186770 a owl:Class ; @@ -72299,14 +74143,15 @@ OMIM:186770 a owl:Class ; PMID:7555717, PMID:7908720, PMID:8099440 ; - oboInOwl:hasDbXref UMLS:C0920270 ; oboInOwl:hasExactSynonym "TLX1", "homeobox 11", "t-cell leukemia 3 gene", "t-cell leukemia, homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3195 ; - skos:exactMatch HGNC_symbol:TLX1 ; + skos:exactMatch UMLS:C0920270, + HGNC:5056, + HGNC_symbol:TLX1 ; biolink:category biolink:Gene . OMIM:186780 a owl:Class ; @@ -72326,7 +74171,6 @@ OMIM:186780 a owl:Class ; PMID:7842742 ; RO:0002525 CHR:9606chr1q24.2 ; RO:0003303 OMIM:610163 ; - oboInOwl:hasDbXref UMLS:C1824677 ; oboInOwl:hasExactSynonym "CD247", "cd247 antigen", "cd3 antigen, zeta subunit", @@ -72334,7 +74178,9 @@ OMIM:186780 a owl:Class ; "t-cell antigen receptor complex, zeta subunit of cd3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:919 ; - skos:exactMatch HGNC_symbol:CD247 ; + skos:exactMatch UMLS:C1824677, + HGNC:1677, + HGNC_symbol:CD247 ; biolink:category biolink:Gene . OMIM:186790 a owl:Class ; @@ -72353,7 +74199,6 @@ OMIM:186790 a owl:Class ; PMID:9177342 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:615617 ; - oboInOwl:hasDbXref UMLS:C1413222 ; oboInOwl:hasExactSynonym "CD3D", "cd3 antigen, delta subunit", "cd3-delta", @@ -72361,7 +74206,9 @@ OMIM:186790 a owl:Class ; "t-cell antigen receptor complex, delta subunit of t3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:915 ; - skos:exactMatch HGNC_symbol:CD3D ; + skos:exactMatch UMLS:C1413222, + HGNC:1673, + HGNC_symbol:CD3D ; biolink:category biolink:Gene . OMIM:186810 a owl:Class ; @@ -72381,12 +74228,13 @@ OMIM:186810 a owl:Class ; PMID:3500416, PMID:3500417, PMID:3672118 ; - oboInOwl:hasDbXref UMLS:C1421101 ; oboInOwl:hasExactSynonym "TRDC", "t-cell receptor delta chain constant region" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28526 ; - skos:exactMatch HGNC_symbol:TRDC ; + skos:exactMatch UMLS:C1421101, + HGNC:12253, + HGNC_symbol:TRDC ; biolink:category biolink:Gene . OMIM:186820 a owl:Class ; @@ -72398,13 +74246,14 @@ OMIM:186820 a owl:Class ; PMID:3258561, PMID:3501369, PMID:9466315 ; - oboInOwl:hasDbXref UMLS:C1413236 ; oboInOwl:hasExactSynonym "CD7", "t-cell antigen cd7", "tp41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:924 ; - skos:exactMatch HGNC_symbol:CD7 ; + skos:exactMatch UMLS:C1413236, + HGNC:1695, + HGNC_symbol:CD7 ; biolink:category biolink:Gene . OMIM:186830 a owl:Class ; @@ -72422,16 +74271,17 @@ OMIM:186830 a owl:Class ; PMID:9843989 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:615615 ; - oboInOwl:hasDbXref UMLS:C1332711, - UMLS:C3810127, - UMLS:C3810128 ; oboInOwl:hasExactSynonym "CD3E", "cd3 antigen, epsilon subunit", "cd3-epsilon", "t-cell antigen receptor complex, epsilon subunit of t3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:916 ; - skos:exactMatch HGNC_symbol:CD3E ; + skos:exactMatch UMLS:C1332711, + UMLS:C3810127, + UMLS:C3810128, + HGNC:1674, + HGNC_symbol:CD3E ; biolink:category biolink:Gene . OMIM:186845 a owl:Class ; @@ -72451,22 +74301,23 @@ OMIM:186845 a owl:Class ; PMID:9794763 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:613496 ; - oboInOwl:hasDbXref UMLS:C1413240 ; oboInOwl:hasExactSynonym "CD81", "cd81 antigen", "target of antiproliferative antibody 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:975 ; - skos:exactMatch HGNC_symbol:CD81 ; + skos:exactMatch UMLS:C1413240, + HGNC:1701, + HGNC_symbol:CD81 ; biolink:category biolink:Gene . OMIM:186850 a owl:Class ; rdfs:label "tarsal coalition" ; IAO:0000142 PMID:4421359, PMID:6480656 ; - oboInOwl:hasDbXref UMLS:C0265654 ; oboInOwl:hasExactSynonym "tarsal coalition", "tarsal fusion" ; + skos:exactMatch UMLS:C0265654 ; biolink:category biolink:Disease . OMIM:186852 a owl:Class ; @@ -72480,13 +74331,14 @@ OMIM:186852 a owl:Class ; PMID:9473509 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:619354 ; - oboInOwl:hasDbXref UMLS:C1419022 ; oboInOwl:hasExactSynonym "PSMC3", "proteasome 26s subunit, atpase, 3", "tat-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5702 ; - skos:exactMatch HGNC_symbol:PSMC3 ; + skos:exactMatch UMLS:C1419022, + HGNC:9549, + HGNC_symbol:PSMC3 ; biolink:category biolink:Gene . OMIM:186854 a owl:Class ; @@ -72496,13 +74348,14 @@ OMIM:186854 a owl:Class ; PMID:8010975 ; RO:0002525 CHR:9606chr3p25.1 ; RO:0003303 OMIM:145350 ; - oboInOwl:hasDbXref UMLS:C1420216 ; oboInOwl:hasExactSynonym "SLC6A6", "solute carrier family 6 (neurotransmitter transporter, taurine), member 6", "taurine transporter" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6533 ; - skos:exactMatch HGNC_symbol:SLC6A6 ; + skos:exactMatch UMLS:C1420216, + HGNC:11052, + HGNC_symbol:SLC6A6 ; biolink:category biolink:Gene . OMIM:186855 a owl:Class ; @@ -72513,23 +74366,24 @@ OMIM:186855 a owl:Class ; PMID:7774911 ; RO:0002525 CHR:9606chr9q31.2 ; RO:0003303 OMIM:613065 ; - oboInOwl:hasDbXref UMLS:C1336574 ; oboInOwl:hasExactSynonym "TAL2", "t-cell acute lymphocytic leukemia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6887 ; - skos:exactMatch HGNC_symbol:TAL2 ; + skos:exactMatch UMLS:C1336574, + HGNC:11557, + HGNC_symbol:TAL2 ; biolink:category biolink:Gene . OMIM:186860 a owl:Class ; rdfs:label "TCL4" ; IAO:0000142 PMID:3194416 ; RO:0002525 CHR:9606chr2q34 ; - oboInOwl:hasDbXref UMLS:C1420651 ; oboInOwl:hasExactSynonym "TCL4", "t-cell leukemia/lymphoma 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6946 ; + skos:exactMatch UMLS:C1420651 ; biolink:category biolink:Gene . OMIM:186880 a owl:Class ; @@ -72587,20 +74441,21 @@ OMIM:186880 a owl:Class ; PMID:9694657 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:615387 ; - oboInOwl:hasDbXref UMLS:C1420886, - UMLS:C3809332 ; oboInOwl:hasExactSynonym "TRAC", "t-cell receptor alpha chain constant region" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28755 ; - skos:exactMatch HGNC_symbol:TRAC ; + skos:exactMatch UMLS:C1420886, + UMLS:C3809332, + HGNC:12029, + HGNC_symbol:TRAC ; biolink:category biolink:Gene . OMIM:186890 a owl:Class ; rdfs:label "tear protein, anodal" ; IAO:0000142 PMID:822832 ; - oboInOwl:hasDbXref UMLS:C1861283 ; oboInOwl:hasExactSynonym "tear protein, anodal" ; + skos:exactMatch UMLS:C1861283 ; biolink:category biolink:Disease . OMIM:186910 a owl:Class ; @@ -72640,8 +74495,6 @@ OMIM:186910 a owl:Class ; PMID:8314589 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:608957 ; - oboInOwl:hasDbXref UMLS:C1413244, - UMLS:C1861281 ; oboInOwl:hasExactSynonym "CD8A", "cd8 antigen, alpha polypeptide", "leu2 t-lymphocyte antigen", @@ -72651,7 +74504,10 @@ OMIM:186910 a owl:Class ; "t8 t-cell antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:925 ; - skos:exactMatch HGNC_symbol:CD8A ; + skos:exactMatch UMLS:C1413244, + UMLS:C1861281, + HGNC:1706, + HGNC_symbol:CD8A ; biolink:category biolink:Gene . OMIM:186920 a owl:Class ; @@ -72666,7 +74522,6 @@ OMIM:186921 a owl:Class ; PMID:3259177, PMID:8099513 ; RO:0002525 CHR:9606chr11p15.4 ; - oboInOwl:hasDbXref UMLS:C1416881 ; oboInOwl:hasExactSynonym "LMO1", "lim domain only 1", "rhombosine", @@ -72674,7 +74529,9 @@ OMIM:186921 a owl:Class ; "t-cell translocation gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4004 ; - skos:exactMatch HGNC_symbol:LMO1 ; + skos:exactMatch UMLS:C1416881, + HGNC:6641, + HGNC_symbol:LMO1 ; biolink:category biolink:Gene . OMIM:186930 a owl:Class ; @@ -72714,12 +74571,13 @@ OMIM:186930 a owl:Class ; PMID:8650574, PMID:9463308, PMID:9465304 ; - oboInOwl:hasDbXref UMLS:C1421008 ; oboInOwl:hasExactSynonym "TRBC1", "t-cell receptor beta chain constant region 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28639 ; - skos:exactMatch HGNC_symbol:TRBC1 ; + skos:exactMatch UMLS:C1421008, + HGNC:12156, + HGNC_symbol:TRBC1 ; biolink:category biolink:Gene . OMIM:186940 a owl:Class ; @@ -72753,13 +74611,14 @@ OMIM:186940 a owl:Class ; PMID:9546790 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:613949 ; - oboInOwl:hasDbXref UMLS:C1332714 ; oboInOwl:hasExactSynonym "CD4", "cd4 antigen", "t-cell antigen t4/leu3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:920 ; - skos:exactMatch HGNC_symbol:CD4 ; + skos:exactMatch UMLS:C1332714, + HGNC:1678, + HGNC_symbol:CD4 ; biolink:category biolink:Gene . OMIM:186945 a owl:Class ; @@ -72777,7 +74636,6 @@ OMIM:186945 a owl:Class ; PMID:7518616, PMID:7529739, PMID:9461216 ; - oboInOwl:hasDbXref UMLS:C1414618 ; oboInOwl:hasExactSynonym "FKBP1A", "calstabin 1", "fk506-binding protein 1", @@ -72786,7 +74644,9 @@ OMIM:186945 a owl:Class ; "fk506-binding protein, t-cell, 12-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2280 ; - skos:exactMatch HGNC_symbol:FKBP1A ; + skos:exactMatch UMLS:C1414618, + HGNC:3711, + HGNC_symbol:FKBP1A ; biolink:category biolink:Gene . OMIM:186946 a owl:Class ; @@ -72794,13 +74654,14 @@ OMIM:186946 a owl:Class ; IAO:0000142 PMID:1281998, PMID:1713687, PMID:8938448 ; - oboInOwl:hasDbXref UMLS:C1414624 ; oboInOwl:hasExactSynonym "FKBP2", "fk506-binding protein 2", "fk506-binding protein, t-cell, 13-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2286 ; - skos:exactMatch HGNC_symbol:FKBP2 ; + skos:exactMatch UMLS:C1414624, + HGNC:3718, + HGNC_symbol:FKBP2 ; biolink:category biolink:Gene . OMIM:186947 a owl:Class ; @@ -72808,21 +74669,22 @@ OMIM:186947 a owl:Class ; IAO:0000142 PMID:1374240, PMID:1376117, PMID:24667607 ; - oboInOwl:hasDbXref UMLS:C1414625 ; oboInOwl:hasExactSynonym "FKBP3", "fk506-binding protein 3", "fk506-binding protein, t-cell, 25-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2287 ; - skos:exactMatch HGNC_symbol:FKBP3 ; + skos:exactMatch UMLS:C1414625, + HGNC:3719, + HGNC_symbol:FKBP3 ; biolink:category biolink:Gene . OMIM:186950 a owl:Class ; rdfs:label "t-cell subgroups, non-hla-linked" ; IAO:0000142 PMID:6447743, PMID:6980374 ; - oboInOwl:hasDbXref UMLS:C1861277 ; - oboInOwl:hasExactSynonym "t-cell subgroups, non-hla-linked" . + oboInOwl:hasExactSynonym "t-cell subgroups, non-hla-linked" ; + skos:exactMatch UMLS:C1861277 . OMIM:186960 a owl:Class ; rdfs:label "TCL1A" ; @@ -72841,14 +74703,15 @@ OMIM:186960 a owl:Class ; PMID:8415691, PMID:9520462 ; RO:0002525 CHR:9606chr14q32.13 ; - oboInOwl:hasDbXref UMLS:C1420650 ; oboInOwl:hasExactSynonym "TCL1A", "lymphoma/leukemia, t-cell", "t-cell leukemia/lymphoma 1a", "tcl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8115 ; - skos:exactMatch HGNC_symbol:TCL1A ; + skos:exactMatch UMLS:C1420650, + HGNC:11648, + HGNC_symbol:TCL1A ; biolink:category biolink:Gene . OMIM:186970 a owl:Class ; @@ -72889,12 +74752,13 @@ OMIM:186970 a owl:Class ; PMID:6208487, PMID:6330561, PMID:8637862 ; - oboInOwl:hasDbXref UMLS:C1421120 ; oboInOwl:hasExactSynonym "TRGC1", "t-cell receptor gamma chain constant region 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6966 ; - skos:exactMatch HGNC_symbol:TRGC1 ; + skos:exactMatch UMLS:C1421120, + HGNC:12275, + HGNC_symbol:TRGC1 ; biolink:category biolink:Gene . OMIM:186973 a owl:Class ; @@ -72914,39 +74778,42 @@ OMIM:186973 a owl:Class ; PMID:8364206 ; RO:0002525 CHR:9606chr5q33.3 ; RO:0003303 OMIM:613011 ; - oboInOwl:hasDbXref UMLS:C1367389 ; oboInOwl:hasExactSynonym "ITK", "il2-inducible t-cell kinase", "t-cell itk/tsk tyrosine kinase, mouse, homolog of", "tyrosine kinase expressed mainly 1n t cells" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3702 ; - skos:exactMatch HGNC_symbol:ITK ; + skos:exactMatch UMLS:C1367389, + HGNC:6171, + HGNC_symbol:ITK ; biolink:category biolink:Gene . OMIM:186975 a owl:Class ; rdfs:label "TCTE1" ; IAO:0000142 PMID:1916824, PMID:28630322 ; - oboInOwl:hasDbXref UMLS:C1420661 ; oboInOwl:hasExactSynonym "TCTE1", "dynein regulatory complex subunit 5", "t complex-associated testis-expressed 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:202500 ; - skos:exactMatch HGNC_symbol:TCTE1 ; + skos:exactMatch UMLS:C1420661, + HGNC:11693, + HGNC_symbol:TCTE1 ; biolink:category biolink:Gene . OMIM:186977 a owl:Class ; rdfs:label "TCTE3" ; IAO:0000142 PMID:1505969, PMID:3653077 ; - oboInOwl:hasDbXref UMLS:C1420663 ; oboInOwl:hasExactSynonym "TCTE3", "t complex-associated testis-expressed 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6991 ; - skos:exactMatch HGNC_symbol:DYNLT2 ; + skos:exactMatch UMLS:C1420663, + HGNC:11695, + HGNC_symbol:DYNLT2 ; biolink:category biolink:Gene . OMIM:186980 a owl:Class ; @@ -72956,24 +74823,26 @@ OMIM:186980 a owl:Class ; PMID:3476253, PMID:3653076, PMID:8812443 ; - oboInOwl:hasDbXref UMLS:C1420655 ; oboInOwl:hasExactSynonym "TCP1", "t-complex 1", "t-complex homolog tcp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6950 ; - skos:exactMatch HGNC_symbol:TCP1 ; + skos:exactMatch UMLS:C1420655, + HGNC:11655, + HGNC_symbol:TCP1 ; biolink:category biolink:Gene . OMIM:186982 a owl:Class ; rdfs:label "TCP11" ; IAO:0000142 PMID:1427894 ; - oboInOwl:hasDbXref UMLS:C1420658 ; oboInOwl:hasExactSynonym "TCP11", "t-complex homolog tcp11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6954 ; - skos:exactMatch HGNC_symbol:TCP11 ; + skos:exactMatch UMLS:C1420658, + HGNC:11658, + HGNC_symbol:TCP11 ; biolink:category biolink:Gene . OMIM:186990 a owl:Class ; @@ -72989,26 +74858,27 @@ OMIM:186990 a owl:Class ; PMID:3490670, PMID:7789166, PMID:8599090 ; - oboInOwl:hasDbXref UMLS:C1367475 ; oboInOwl:hasExactSynonym "CD2", "sheep erythrocyte receptor", "t-lymphocyte surface cd2 antigen", "t11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:914 ; - skos:exactMatch HGNC_symbol:CD2 ; + skos:exactMatch UMLS:C1367475, + HGNC:1639, + HGNC_symbol:CD2 ; biolink:category biolink:Gene . OMIM:187000 a owl:Class ; rdfs:label "teeth, odd shapes of" ; IAO:0000142 PMID:14131590, PMID:290365 ; - oboInOwl:hasDbXref UMLS:C1861274, - UMLS:C1861275, - UMLS:C1861276 ; oboInOwl:hasExactSynonym "conical teeth, multiple", "lobodontia", "teeth, odd shapes of" ; + skos:exactMatch UMLS:C1861274, + UMLS:C1861275, + UMLS:C1861276 ; biolink:category biolink:Disease . OMIM:187010 a owl:Class ; @@ -73022,20 +74892,21 @@ OMIM:187020 a owl:Class ; PMID:2767684, PMID:8111376, PMID:8379001 ; - oboInOwl:hasDbXref UMLS:C1420656 ; oboInOwl:hasExactSynonym "TCP10", "t-complex 10", "tcp10a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6953 ; - skos:exactMatch HGNC_symbol:TCP10L3 ; + skos:exactMatch UMLS:C1420656, + HGNC:11656, + HGNC_symbol:TCP10L3 ; biolink:category biolink:Gene . OMIM:187030 a owl:Class ; rdfs:label "t-complex locus tcp10b" ; - oboInOwl:hasDbXref UMLS:C1861271 ; oboInOwl:hasExactSynonym "TCP10B", - "t-complex locus tcp10b" . + "t-complex locus tcp10b" ; + skos:exactMatch UMLS:C1861271 . OMIM:187040 a owl:Class ; rdfs:label "TAL1" ; @@ -73064,14 +74935,15 @@ OMIM:187040 a owl:Class ; PMID:9171354 ; RO:0002525 CHR:9606chr1p33 ; RO:0003303 OMIM:613065 ; - oboInOwl:hasDbXref UMLS:C0796355 ; oboInOwl:hasExactSynonym "TAL1", "stem cell leukemia hematopoietic transcription factor", "t-cell acute lymphocytic leukemia 1", "t-cell leukemia/lymphoma 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6886 ; - skos:exactMatch HGNC_symbol:TAL1 ; + skos:exactMatch UMLS:C0796355, + HGNC:11556, + HGNC_symbol:TAL1 ; biolink:category biolink:Gene . OMIM:187050 a owl:Class ; @@ -73080,16 +74952,16 @@ OMIM:187050 a owl:Class ; PMID:13240300, PMID:14084331, PMID:3946356 ; - oboInOwl:hasDbXref UMLS:C0027443 ; oboInOwl:hasExactSynonym "natal teeth", - "teeth present at birth" . + "teeth present at birth" ; + skos:exactMatch UMLS:C0027443 . OMIM:187100 a owl:Class ; rdfs:label "teeth, supernumerary" ; IAO:0000142 PMID:10023236, PMID:19161155 ; - oboInOwl:hasDbXref UMLS:C0040457 ; - oboInOwl:hasExactSynonym "teeth, supernumerary" . + oboInOwl:hasExactSynonym "teeth, supernumerary" ; + skos:exactMatch UMLS:C0040457 . OMIM:187270 a owl:Class ; rdfs:label "TERT" ; @@ -73158,48 +75030,50 @@ OMIM:187270 a owl:Class ; PMID:9988278 ; RO:0002525 CHR:9606chr5p15.33 ; RO:0003303 OMIM:615134 ; - oboInOwl:hasDbXref UMLS:C1367342 ; oboInOwl:hasExactSynonym "TERT", "est2", "telomerase catalytic subunit", "telomerase reverse transcriptase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7015 ; - skos:exactMatch HGNC_symbol:TERT ; + skos:exactMatch UMLS:C1367342, + HGNC:11730, + HGNC_symbol:TERT ; biolink:category biolink:Gene . OMIM:187280 a owl:Class ; rdfs:label "POLR3D" ; IAO:0000142 PMID:2714790, PMID:3683386 ; - oboInOwl:hasDbXref UMLS:C1412808 ; oboInOwl:hasExactSynonym "POLR3D", "polymerase iii, rna, subunit d", "temperature sensitivity complementation, cell cycle specific, tsbn51", "tsbn51" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:661 ; - skos:exactMatch HGNC_symbol:POLR3D ; + skos:exactMatch UMLS:C1412808, + HGNC:1080, + HGNC_symbol:POLR3D ; biolink:category biolink:Gene . OMIM:187310 a owl:Class ; rdfs:label "temperature sensitivity complementation, cell cycle specific, k12" ; IAO:0000142 PMID:455493 ; - oboInOwl:hasDbXref UMLS:C1416535 ; oboInOwl:hasExactSynonym "temperature sensitivity complementation, cell cycle specific, k12", - "ts complementing, k12" . + "ts complementing, k12" ; + skos:exactMatch UMLS:C1416535 . OMIM:187340 a owl:Class ; rdfs:label "temperature-sensitive lethal mutation" ; - oboInOwl:hasDbXref UMLS:C1861242 ; - oboInOwl:hasExactSynonym "temperature-sensitive lethal mutation" . + oboInOwl:hasExactSynonym "temperature-sensitive lethal mutation" ; + skos:exactMatch UMLS:C1861242 . OMIM:187350 a owl:Class ; rdfs:label "telecanthus" ; IAO:0000142 PMID:5002294, PMID:5365062 ; - oboInOwl:hasDbXref UMLS:C0423113 ; - oboInOwl:hasExactSynonym "telecanthus" . + oboInOwl:hasExactSynonym "telecanthus" ; + skos:exactMatch UMLS:C0423113 . OMIM:187360 a owl:Class ; rdfs:label "temporal arteritis" ; @@ -73216,12 +75090,12 @@ OMIM:187360 a owl:Class ; PMID:7268390, PMID:7447573, PMID:9058678 ; - oboInOwl:hasDbXref UMLS:C0039483, - UMLS:C1956391 ; oboInOwl:hasExactSynonym "cranial arteritis", "giant cell arteritis", "polymyalgia rheumatica", - "temporal arteritis" . + "temporal arteritis" ; + skos:exactMatch UMLS:C0039483, + UMLS:C1956391 . OMIM:187370 a owl:Class ; rdfs:label "arthrogryposis, distal, iia 10" ; @@ -73229,12 +75103,12 @@ OMIM:187370 a owl:Class ; PMID:4708278, PMID:6073187 ; RO:0002525 CHR:9606chr2q31.3-q32.1 ; - oboInOwl:hasDbXref UMLS:C1861238 ; oboInOwl:hasExactSynonym "DA10", "arthrogryposis, distal, iia 10", "congenital plantar contractures", "tendo calcaneus, short" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C1861238 ; biolink:category biolink:Disease . OMIM:187380 a owl:Class ; @@ -73258,7 +75132,6 @@ OMIM:187380 a owl:Class ; PMID:9174161 ; RO:0002525 CHR:9606chr9q33.1 ; RO:0003303 OMIM:615629 ; - oboInOwl:hasDbXref UMLS:C1336642 ; oboInOwl:hasExactSynonym "TNC", "cytotactin", "hexabrachion", @@ -73266,14 +75139,16 @@ OMIM:187380 a owl:Class ; "tenascin c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3371 ; - skos:exactMatch HGNC_symbol:TNC ; + skos:exactMatch UMLS:C1336642, + HGNC:5318, + HGNC_symbol:TNC ; biolink:category biolink:Gene . OMIM:187390 a owl:Class ; rdfs:label "tendons, extensor, of fingers, anomalous insertion of" ; IAO:0000142 PMID:7363507 ; - oboInOwl:hasDbXref UMLS:C1861237 ; - oboInOwl:hasExactSynonym "tendons, extensor, of fingers, anomalous insertion of" . + oboInOwl:hasExactSynonym "tendons, extensor, of fingers, anomalous insertion of" ; + skos:exactMatch UMLS:C1861237 . OMIM:187400 a owl:Class ; rdfs:label "testicular torsion" ; @@ -73281,9 +75156,9 @@ OMIM:187400 a owl:Class ; PMID:13718864, PMID:2908936, PMID:3986454 ; - oboInOwl:hasDbXref UMLS:C0037856 ; oboInOwl:hasExactSynonym "testicular torsion", - "torsion of testicular cord" . + "torsion of testicular cord" ; + skos:exactMatch UMLS:C0037856 . OMIM:187410 a owl:Class ; rdfs:label "DNTT" ; @@ -73294,14 +75169,15 @@ OMIM:187410 a owl:Class ; PMID:3524991, PMID:3862101, PMID:6091113 ; - oboInOwl:hasDbXref UMLS:C1333243 ; oboInOwl:hasExactSynonym "DNTT", "deoxynucleotidyltransferase, terminal", "terminal deoxynucleotidyltransferase", "terminal transferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1791 ; - skos:exactMatch HGNC_symbol:DNTT ; + skos:exactMatch UMLS:C1333243, + HGNC:2983, + HGNC_symbol:DNTT ; biolink:category biolink:Gene . OMIM:187430 a owl:Class ; @@ -73309,14 +75185,15 @@ OMIM:187430 a owl:Class ; IAO:0000142 PMID:2562800, PMID:2613236, PMID:3472212 ; - oboInOwl:hasDbXref UMLS:C1420884 ; oboInOwl:hasExactSynonym "CRISP2", "cysteine-rich secretory protein 2", "testis-specific protein 1", "tsp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7180 ; - skos:exactMatch HGNC_symbol:CRISP2 ; + skos:exactMatch UMLS:C1420884, + HGNC:12024, + HGNC_symbol:CRISP2 ; biolink:category biolink:Gene . OMIM:187450 a owl:Class ; @@ -73326,16 +75203,16 @@ OMIM:187450 a owl:Class ; OMIM:187501 a owl:Class ; rdfs:label "tetralogy of fallot and glaucoma" ; IAO:0000142 PMID:2240041 ; - oboInOwl:hasDbXref UMLS:C1861234 ; - oboInOwl:hasExactSynonym "tetralogy of fallot and glaucoma" . + oboInOwl:hasExactSynonym "tetralogy of fallot and glaucoma" ; + skos:exactMatch UMLS:C1861234 . OMIM:187510 a owl:Class ; rdfs:label "tetramelic monodactyly" ; IAO:0000142 PMID:1248173, PMID:1308366, PMID:5079103 ; - oboInOwl:hasDbXref UMLS:C1861233 ; - oboInOwl:hasExactSynonym "tetramelic monodactyly" . + oboInOwl:hasExactSynonym "tetramelic monodactyly" ; + skos:exactMatch UMLS:C1861233 . OMIM:187520 a owl:Class ; rdfs:label "TNA" ; @@ -73343,12 +75220,13 @@ OMIM:187520 a owl:Class ; PMID:7798325, PMID:8563165, PMID:9154122 ; - oboInOwl:hasDbXref UMLS:C1539092 ; oboInOwl:hasExactSynonym "TNA", "tetranectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7123 ; - skos:exactMatch HGNC_symbol:CLEC3B ; + skos:exactMatch UMLS:C1539092, + HGNC:11891, + HGNC_symbol:CLEC3B ; biolink:category biolink:Gene . OMIM:187550 a owl:Class ; @@ -73359,14 +75237,14 @@ OMIM:187550 a owl:Class ; PMID:6196196, PMID:6320177, PMID:8101733 ; - oboInOwl:hasDbXref UMLS:C1861232 ; - oboInOwl:hasExactSynonym "thalassemia, beta+, silent allele" . + oboInOwl:hasExactSynonym "thalassemia, beta+, silent allele" ; + skos:exactMatch UMLS:C1861232 . OMIM:187650 a owl:Class ; rdfs:label "theophylline biotransformation" ; IAO:0000142 PMID:4039734 ; - oboInOwl:hasDbXref UMLS:C1861211 ; oboInOwl:hasExactSynonym "theophylline biotransformation" ; + skos:exactMatch UMLS:C1861211 ; biolink:category biolink:Disease . OMIM:187680 a owl:Class ; @@ -73403,12 +75281,13 @@ OMIM:187680 a owl:Class ; PMID:9931346 ; RO:0002525 CHR:9606chr6p22.3 ; RO:0003303 OMIM:610460 ; - oboInOwl:hasDbXref UMLS:C1336663 ; oboInOwl:hasExactSynonym "TPMT", "thiopurine s-methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7172 ; - skos:exactMatch HGNC_symbol:TPMT ; + skos:exactMatch UMLS:C1336663, + HGNC:12014, + HGNC_symbol:TPMT ; biolink:category biolink:Gene . OMIM:187700 a owl:Class ; @@ -73428,21 +75307,22 @@ OMIM:187700 a owl:Class ; PMID:8088797, PMID:8144037, PMID:9564042 ; - oboInOwl:hasDbXref UMLS:C1336690 ; oboInOwl:hasExactSynonym "TXN", "thioredoxin", "trx", "trx1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7295 ; - skos:exactMatch HGNC_symbol:TXN ; + skos:exactMatch UMLS:C1336690, + HGNC:12435, + HGNC_symbol:TXN ; biolink:category biolink:Gene . OMIM:187750 a owl:Class ; rdfs:label "thoracic dysostosis, isolated" ; IAO:0000142 PMID:4682713 ; - oboInOwl:hasDbXref UMLS:C1861204 ; - oboInOwl:hasExactSynonym "thoracic dysostosis, isolated" . + oboInOwl:hasExactSynonym "thoracic dysostosis, isolated" ; + skos:exactMatch UMLS:C1861204 . OMIM:187760 a owl:Class ; rdfs:label "thoracolaryngopelvic dysplasia" ; @@ -73450,17 +75330,17 @@ OMIM:187760 a owl:Class ; PMID:4942944, PMID:5765978, PMID:6620328 ; - oboInOwl:hasDbXref UMLS:C1861197 ; oboInOwl:hasExactSynonym "TLPD", "barnes syndrome", - "thoracolaryngopelvic dysplasia" . + "thoracolaryngopelvic dysplasia" ; + skos:exactMatch UMLS:C1861197 . OMIM:187770 a owl:Class ; rdfs:label "thoracopelvic dysostosis" ; IAO:0000142 PMID:3746836, PMID:6620328 ; - oboInOwl:hasDbXref UMLS:C1861196 ; - oboInOwl:hasExactSynonym "thoracopelvic dysostosis" . + oboInOwl:hasExactSynonym "thoracopelvic dysostosis" ; + skos:exactMatch UMLS:C1861196 . OMIM:187790 a owl:Class ; rdfs:label "TARS1" ; @@ -73469,14 +75349,15 @@ OMIM:187790 a owl:Class ; PMID:3464105 ; RO:0002525 CHR:9606chr5p13.3 ; RO:0003303 OMIM:618546 ; - oboInOwl:hasDbXref UMLS:C1420589 ; oboInOwl:hasExactSynonym "TARS1", "tars", "threonyl-trna synthetase 1", "thrrs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6897 ; - skos:exactMatch HGNC_symbol:TARS1 ; + skos:exactMatch UMLS:C1420589, + HGNC:11572, + HGNC_symbol:TARS1 ; biolink:category biolink:Gene . OMIM:187800 a owl:Class ; @@ -73491,11 +75372,11 @@ OMIM:187800 a owl:Class ; PMID:4537881, PMID:6310559, PMID:9834222 ; - oboInOwl:hasDbXref UMLS:C1861195 ; oboInOwl:hasExactSynonym "BDPLT16", "bleeding disorder, platelet-type, 16", "glanzmann thrombasthenia-like with macrothrombocytopenia 1" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C1861195 ; biolink:category biolink:Disease . OMIM:187930 a owl:Class ; @@ -73516,7 +75397,6 @@ OMIM:187930 a owl:Class ; PMID:8621593, PMID:8661713, PMID:9207393 ; - oboInOwl:hasDbXref UMLS:C1366449 ; oboInOwl:hasExactSynonym "F2R", "cf2r", "coagulation factor 2 receptor", @@ -73524,22 +75404,24 @@ OMIM:187930 a owl:Class ; "thrombin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2149 ; - skos:exactMatch HGNC_symbol:F2R ; + skos:exactMatch UMLS:C1366449, + HGNC:3537, + HGNC_symbol:F2R ; biolink:category biolink:Gene . OMIM:187940 a owl:Class ; rdfs:label "thrombocyte B" ; IAO:0000142 PMID:1952810 ; - oboInOwl:hasDbXref UMLS:C1861193 ; oboInOwl:hasExactSynonym "THB", - "thrombocyte B" . + "thrombocyte B" ; + skos:exactMatch UMLS:C1861193 . OMIM:188020 a owl:Class ; rdfs:label "thrombocytopenia, cyclic" ; IAO:0000142 PMID:4832304, PMID:557235 ; - oboInOwl:hasDbXref UMLS:C0272282 ; - oboInOwl:hasExactSynonym "thrombocytopenia, cyclic" . + oboInOwl:hasExactSynonym "thrombocytopenia, cyclic" ; + skos:exactMatch UMLS:C0272282 . OMIM:188030 a owl:Class ; rdfs:label "thrombocytopenic purpura, autoimmune" ; @@ -73556,23 +75438,24 @@ OMIM:188030 a owl:Class ; PMID:7195175, PMID:7935660, PMID:9742983 ; - oboInOwl:hasDbXref UMLS:C0398650 ; oboInOwl:hasExactSynonym "AITP", "idiopathic thrombocytopenic purpura", "immune thrombocytopenic purpura", - "thrombocytopenic purpura, autoimmune" . + "thrombocytopenic purpura, autoimmune" ; + skos:exactMatch UMLS:C0398650 . OMIM:188035 a owl:Class ; rdfs:label "PPBPL1" ; IAO:0000142 PMID:1316786, PMID:1826003 ; - oboInOwl:hasDbXref UMLS:C1418782 ; oboInOwl:hasExactSynonym "PPBPL1", "pro-platelet basic protein-like 1", "thromboglobulin, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728045 ; - skos:exactMatch HGNC_symbol:PPBPP1 ; + skos:exactMatch UMLS:C1418782, + HGNC:9241, + HGNC_symbol:PPBPP1 ; biolink:category biolink:Gene . OMIM:188040 a owl:Class ; @@ -73607,14 +75490,15 @@ OMIM:188040 a owl:Class ; PMID:9843165 ; RO:0002525 CHR:9606chr20p11.21 ; RO:0003303 OMIM:612926 ; - oboInOwl:hasDbXref UMLS:C1420720 ; oboInOwl:hasExactSynonym "THBD", "cd141 antigen", "thrm", "thrombomodulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7056 ; - skos:exactMatch HGNC_symbol:THBD ; + skos:exactMatch UMLS:C1420720, + HGNC:11784, + HGNC_symbol:THBD ; biolink:category biolink:Gene . OMIM:188060 a owl:Class ; @@ -73638,13 +75522,14 @@ OMIM:188060 a owl:Class ; PMID:3305519, PMID:3461443, PMID:9486968 ; - oboInOwl:hasDbXref UMLS:C1336626 ; oboInOwl:hasExactSynonym "THBS1", "thrombospondin 1", "tsp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7057 ; - skos:exactMatch HGNC_symbol:THBS1 ; + skos:exactMatch UMLS:C1336626, + HGNC:11785, + HGNC_symbol:THBS1 ; biolink:category biolink:Gene . OMIM:188061 a owl:Class ; @@ -73659,13 +75544,14 @@ OMIM:188061 a owl:Class ; PMID:9442117 ; RO:0002525 CHR:9606chr6q27 ; RO:0003303 OMIM:603932 ; - oboInOwl:hasDbXref UMLS:C1336627 ; oboInOwl:hasExactSynonym "THBS2", "thrombospondin 2", "tsp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7058 ; - skos:exactMatch HGNC_symbol:THBS2 ; + skos:exactMatch UMLS:C1336627, + HGNC:11786, + HGNC_symbol:THBS2 ; biolink:category biolink:Gene . OMIM:188062 a owl:Class ; @@ -73676,12 +75562,13 @@ OMIM:188062 a owl:Class ; PMID:7759526, PMID:8468055, PMID:8597643 ; - oboInOwl:hasDbXref UMLS:C1420721 ; oboInOwl:hasExactSynonym "THBS3", "thrombospondin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7059 ; - skos:exactMatch HGNC_symbol:THBS3 ; + skos:exactMatch UMLS:C1420721, + HGNC:11787, + HGNC_symbol:THBS3 ; biolink:category biolink:Gene . OMIM:188070 a owl:Class ; @@ -73704,25 +75591,26 @@ OMIM:188070 a owl:Class ; PMID:9835625 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:614009 ; - oboInOwl:hasDbXref UMLS:C1420619 ; oboInOwl:hasExactSynonym "TBXA2R", "thromboxane a2 receptor, platelet" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6915 ; - skos:exactMatch HGNC_symbol:TBXA2R ; + skos:exactMatch UMLS:C1420619, + HGNC:11608, + HGNC_symbol:TBXA2R ; biolink:category biolink:Gene . OMIM:188100 a owl:Class ; rdfs:label "thumb deformity" ; IAO:0000142 PMID:5929887 ; - oboInOwl:hasDbXref UMLS:C0575897 ; - oboInOwl:hasExactSynonym "thumb deformity" . + oboInOwl:hasExactSynonym "thumb deformity" ; + skos:exactMatch UMLS:C0575897 . OMIM:188150 a owl:Class ; rdfs:label "thumb deformity and alopecia" ; IAO:0000142 PMID:3344769 ; - oboInOwl:hasDbXref UMLS:C1861168 ; - oboInOwl:hasExactSynonym "thumb deformity and alopecia" . + oboInOwl:hasExactSynonym "thumb deformity and alopecia" ; + skos:exactMatch UMLS:C1861168 . OMIM:188200 a owl:Class ; IAO:0100001 OMIM:107000 ; @@ -73732,8 +75620,8 @@ OMIM:188201 a owl:Class ; rdfs:label "thumbs, stiff, with brachydactyly iia a1 and developmental delay" ; IAO:0000142 PMID:2363441, PMID:6631421 ; - oboInOwl:hasDbXref UMLS:C1861166 ; - oboInOwl:hasExactSynonym "thumbs, stiff, with brachydactyly iia a1 and developmental delay" . + oboInOwl:hasExactSynonym "thumbs, stiff, with brachydactyly iia a1 and developmental delay" ; + skos:exactMatch UMLS:C1861166 . OMIM:188230 a owl:Class ; rdfs:label "THY1" ; @@ -73757,14 +75645,15 @@ OMIM:188230 a owl:Class ; PMID:6153212, PMID:6177036, PMID:7462633 ; - oboInOwl:hasDbXref UMLS:C1420728 ; oboInOwl:hasExactSynonym "THY1", "cd90 antigen", "theta antigen", "thy-1 t-cell antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7070 ; - skos:exactMatch HGNC_symbol:THY1 ; + skos:exactMatch UMLS:C1420728, + HGNC:11801, + HGNC_symbol:THY1 ; biolink:category biolink:Gene . OMIM:188250 a owl:Class ; @@ -73786,12 +75675,13 @@ OMIM:188250 a owl:Class ; PMID:9989599 ; RO:0002525 CHR:9606chr16q21 ; RO:0003303 OMIM:609560 ; - oboInOwl:hasDbXref UMLS:C1420748 ; oboInOwl:hasExactSynonym "TK2", "thymidine kinase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7084 ; - skos:exactMatch HGNC_symbol:TK2 ; + skos:exactMatch UMLS:C1420748, + HGNC:11831, + HGNC_symbol:TK2 ; biolink:category biolink:Gene . OMIM:188300 a owl:Class ; @@ -73823,12 +75713,13 @@ OMIM:188300 a owl:Class ; PMID:6314329, PMID:6549046, PMID:8786092 ; - oboInOwl:hasDbXref UMLS:C1420747 ; oboInOwl:hasExactSynonym "TK1", "thymidine kinase, soluble" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7083 ; - skos:exactMatch HGNC_symbol:TK1 ; + skos:exactMatch UMLS:C1420747, + HGNC:11830, + HGNC_symbol:TK1 ; biolink:category biolink:Gene . OMIM:188340 a owl:Class ; @@ -73838,26 +75729,28 @@ OMIM:188340 a owl:Class ; PMID:12415264, PMID:16393985, PMID:20628149 ; - oboInOwl:hasDbXref UMLS:C1413209 ; oboInOwl:hasExactSynonym "CD1C", "bdca1", "thymocyte antigen cd1c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:911 ; - skos:exactMatch HGNC_symbol:CD1C ; + skos:exactMatch UMLS:C1413209, + HGNC:1636, + HGNC_symbol:CD1C ; biolink:category biolink:Gene . OMIM:188345 a owl:Class ; rdfs:label "DTYMK" ; IAO:0000142 PMID:8024690 ; - oboInOwl:hasDbXref UMLS:C1414178 ; oboInOwl:hasExactSynonym "DTYMK", "cdc8", "deoxythymidylate kinase", "thymidylate kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1841 ; - skos:exactMatch HGNC_symbol:DTYMK ; + skos:exactMatch UMLS:C1414178, + HGNC:3061, + HGNC_symbol:DTYMK ; biolink:category biolink:Gene . OMIM:188350 a owl:Class ; @@ -73878,14 +75771,15 @@ OMIM:188350 a owl:Class ; PMID:3002173, PMID:3859022, PMID:8449516 ; - oboInOwl:hasDbXref UMLS:C1366824 ; oboInOwl:hasExactSynonym "TYMS", "dtmp synthase", "thymidylate synthase", "thymidylate synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7298 ; - skos:exactMatch HGNC_symbol:TYMS ; + skos:exactMatch UMLS:C1366824, + HGNC:12441, + HGNC_symbol:TYMS ; biolink:category biolink:Gene . OMIM:188360 a owl:Class ; @@ -73897,12 +75791,13 @@ OMIM:188360 a owl:Class ; PMID:7527500, PMID:7542404, PMID:9973451 ; - oboInOwl:hasDbXref UMLS:C1413208 ; oboInOwl:hasExactSynonym "CD1B", "thymocyte antigen cd1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:910 ; - skos:exactMatch HGNC_symbol:CD1B ; + skos:exactMatch UMLS:C1413208, + HGNC:1635, + HGNC_symbol:CD1B ; biolink:category biolink:Gene . OMIM:188370 a owl:Class ; @@ -73920,13 +75815,14 @@ OMIM:188370 a owl:Class ; PMID:3093894, PMID:3097645, PMID:9219685 ; - oboInOwl:hasDbXref UMLS:C1413207 ; oboInOwl:hasExactSynonym "CD1A", "cd1", "thymocyte antigen cd1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:909 ; - skos:exactMatch HGNC_symbol:CD1A ; + skos:exactMatch UMLS:C1413207, + HGNC:1634, + HGNC_symbol:CD1A ; biolink:category biolink:Gene . OMIM:188380 a owl:Class ; @@ -73937,14 +75833,15 @@ OMIM:188380 a owl:Class ; PMID:20127487, PMID:8530026, PMID:8743987 ; - oboInOwl:hasDbXref UMLS:C1420783 ; oboInOwl:hasExactSynonym "TMPO", "lamina-associated polypeptide 2", "thymopoietin", "tp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7112 ; - skos:exactMatch HGNC_symbol:TMPO ; + skos:exactMatch UMLS:C1420783, + HGNC:11875, + HGNC_symbol:TMPO ; biolink:category biolink:Gene . OMIM:188390 a owl:Class ; @@ -73955,13 +75852,14 @@ OMIM:188390 a owl:Class ; PMID:3467312, PMID:6583693, PMID:7916742 ; - oboInOwl:hasDbXref UMLS:C1419080 ; oboInOwl:hasExactSynonym "PTMA", "prothymosin, alpha", "thymosin, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5757 ; - skos:exactMatch HGNC_symbol:PTMA ; + skos:exactMatch UMLS:C1419080, + HGNC:9623, + HGNC_symbol:PTMA ; biolink:category biolink:Gene . OMIM:188395 a owl:Class ; @@ -73972,12 +75870,13 @@ OMIM:188399 a owl:Class ; rdfs:label "TMSB10" ; IAO:0000142 PMID:1744129, PMID:1979498 ; - oboInOwl:hasDbXref UMLS:C1420786 ; oboInOwl:hasExactSynonym "TMSB10", "thymosin, beta-10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9168 ; - skos:exactMatch HGNC_symbol:TMSB10 ; + skos:exactMatch UMLS:C1420786, + HGNC:11879, + HGNC_symbol:TMSB10 ; biolink:category biolink:Gene . OMIM:188410 a owl:Class ; @@ -74001,12 +75900,13 @@ OMIM:188410 a owl:Class ; PMID:24717441, PMID:7517575, PMID:9219685 ; - oboInOwl:hasDbXref UMLS:C1413210 ; oboInOwl:hasExactSynonym "CD1D", "thymocyte antigen cd1d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:912 ; - skos:exactMatch HGNC_symbol:CD1D ; + skos:exactMatch UMLS:C1413210, + HGNC:1637, + HGNC_symbol:CD1D ; biolink:category biolink:Gene . OMIM:188411 a owl:Class ; @@ -74015,12 +75915,13 @@ OMIM:188411 a owl:Class ; PMID:16311334, PMID:2583117, PMID:3053166 ; - oboInOwl:hasDbXref UMLS:C1413211 ; oboInOwl:hasExactSynonym "CD1E", "thymocyte antigen cd1e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:913 ; - skos:exactMatch HGNC_symbol:CD1E ; + skos:exactMatch UMLS:C1413211, + HGNC:1638, + HGNC_symbol:CD1E ; biolink:category biolink:Gene . OMIM:188450 a owl:Class ; @@ -74069,15 +75970,16 @@ OMIM:188450 a owl:Class ; PMID:9707574 ; RO:0002525 CHR:9606chr8q24.22 ; RO:0003303 OMIM:608175 ; - oboInOwl:hasDbXref UMLS:C0342194, - UMLS:C1420709, - UMLS:C1842444, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "TG", "thyroglobulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7038 ; - skos:exactMatch HGNC_symbol:TG ; + skos:exactMatch UMLS:C0342194, + UMLS:C1420709, + UMLS:C1842444, + UMLS:C4015968, + HGNC:11764, + HGNC_symbol:TG ; biolink:category biolink:Gene . OMIM:188455 a owl:Class ; @@ -74088,8 +75990,8 @@ OMIM:188455 a owl:Class ; PMID:8004797, PMID:8448898, PMID:8859122 ; - oboInOwl:hasDbXref UMLS:C3495590 ; - oboInOwl:hasExactSynonym "thyroglossal duct cyst, familial" . + oboInOwl:hasExactSynonym "thyroglossal duct cyst, familial" ; + skos:exactMatch UMLS:C3495590 . OMIM:188530 a owl:Class ; IAO:0100001 OMIM:118850 ; @@ -74118,14 +76020,15 @@ OMIM:188540 a owl:Class ; PMID:9589689 ; RO:0002525 CHR:9606chr1p13.2 ; RO:0003303 OMIM:275100 ; - oboInOwl:hasDbXref UMLS:C1421200 ; oboInOwl:hasExactSynonym "TSHB", "thyroid-stimulating hormone, beta chain", "thyrotropin, beta chain", "tsh-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7252 ; - skos:exactMatch HGNC_symbol:TSHB ; + skos:exactMatch UMLS:C1421200, + HGNC:12372, + HGNC_symbol:TSHB ; biolink:category biolink:Gene . OMIM:188545 a owl:Class ; @@ -74142,13 +76045,14 @@ OMIM:188545 a owl:Class ; PMID:9141550 ; RO:0002525 CHR:9606chr8q23.1 ; RO:0003303 OMIM:618573 ; - oboInOwl:hasDbXref UMLS:C1442761, - UMLS:C1861106 ; oboInOwl:hasExactSynonym "TRHR", "thyrotropin-releasing hormone receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7201 ; - skos:exactMatch HGNC_symbol:TRHR ; + skos:exactMatch UMLS:C1442761, + UMLS:C1861106, + HGNC:12299, + HGNC_symbol:TRHR ; biolink:category biolink:Gene . OMIM:188555 a owl:Class ; @@ -74158,11 +76062,11 @@ OMIM:188555 a owl:Class ; OMIM:188560 a owl:Class ; rdfs:label "thyroid hormone plasma membrane transport defect" ; IAO:0000142 PMID:6305243 ; - oboInOwl:hasDbXref UMLS:C1861101 ; oboInOwl:hasExactSynonym "defect", "hyperthyroxinemia, eumetabolic, due to t4 plasma membrane transport", "thyroid hormone plasma membrane transport defect", - "thyroid hormone resistance due to t4 plasma membrane transport defect" . + "thyroid hormone resistance due to t4 plasma membrane transport defect" ; + skos:exactMatch UMLS:C1861101 . OMIM:188570 a owl:Class ; rdfs:label "thyroid hormone resistance, generalized, autosomal dominant" ; @@ -74182,12 +76086,12 @@ OMIM:188570 a owl:Class ; PMID:8319599, PMID:8450877, PMID:8954015 ; - oboInOwl:hasDbXref UMLS:C2937288 ; oboInOwl:hasExactSynonym "GRTHD", "gthr", "hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones", "thyroid hormone resistance, generalized, autosomal dominant", "thyroid hormone unresponsiveness" ; + skos:exactMatch UMLS:C2937288 ; biolink:category biolink:Disease . OMIM:188590 a owl:Class ; @@ -74200,12 +76104,13 @@ OMIM:188595 a owl:Class ; PMID:1916262, PMID:7835883, PMID:7903570 ; - oboInOwl:hasDbXref UMLS:C1420685 ; oboInOwl:hasExactSynonym "TEF", "thyrotroph embryonic factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7008 ; - skos:exactMatch HGNC_symbol:TEF ; + skos:exactMatch UMLS:C1420685, + HGNC:11722, + HGNC_symbol:TEF ; biolink:category biolink:Gene . OMIM:188600 a owl:Class ; @@ -74219,10 +76124,10 @@ OMIM:188700 a owl:Class ; PMID:2281773, PMID:6035455, PMID:880738 ; - oboInOwl:hasDbXref UMLS:C3150037 ; oboInOwl:hasExactSynonym "blount disease, infantile", "osteochondrosis deformans tibiae, infantile", - "tibia vara, infantile" . + "tibia vara, infantile" ; + skos:exactMatch UMLS:C3150037 . OMIM:188770 a owl:Class ; IAO:0100001 OMIM:188740 ; @@ -74232,8 +76137,8 @@ OMIM:188800 a owl:Class ; rdfs:label "tibial torsion, bilateral medial" ; IAO:0000142 PMID:13475418, PMID:4419984 ; - oboInOwl:hasDbXref UMLS:C1861097 ; oboInOwl:hasExactSynonym "tibial torsion, bilateral medial" ; + skos:exactMatch UMLS:C1861097 ; biolink:category biolink:Disease . OMIM:188825 a owl:Class ; @@ -74245,12 +76150,13 @@ OMIM:188825 a owl:Class ; PMID:2793861, PMID:28424512, PMID:8810321 ; - oboInOwl:hasDbXref UMLS:C1336629 ; oboInOwl:hasExactSynonym "TIMP2", "tissue inhibitor of metalloproteinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7077 ; - skos:exactMatch HGNC_symbol:TIMP2 ; + skos:exactMatch UMLS:C1336629, + HGNC:11821, + HGNC_symbol:TIMP2 ; biolink:category biolink:Gene . OMIM:188826 a owl:Class ; @@ -74275,12 +76181,13 @@ OMIM:188826 a owl:Class ; PMID:9642234 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:136900 ; - oboInOwl:hasDbXref UMLS:C1336630 ; oboInOwl:hasExactSynonym "TIMP3", "tissue inhibitor of metalloproteinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7078 ; - skos:exactMatch HGNC_symbol:TIMP3 ; + skos:exactMatch UMLS:C1336630, + HGNC:11822, + HGNC_symbol:TIMP3 ; biolink:category biolink:Gene . OMIM:188830 a owl:Class ; @@ -74325,14 +76232,6 @@ OMIM:188830 a owl:Class ; PMID:9528800 ; RO:0002525 CHR:9606chr17q24.2 ; RO:0003303 OMIM:610489 ; - oboInOwl:hasDbXref UMLS:C0406810, - UMLS:C1418907, - UMLS:C1864846, - UMLS:C2607929, - UMLS:C2931787, - UMLS:C4016392, - UMLS:C4016393, - UMLS:C4016394 ; oboInOwl:hasExactSynonym "PRKAR1A", "prkar1a/rara fusion gene", "protein kinase a, ri-alpha subunit", @@ -74341,7 +76240,16 @@ OMIM:188830 a owl:Class ; "tissue-specific extinguisher 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5573 ; - skos:exactMatch HGNC_symbol:PRKAR1A ; + skos:exactMatch UMLS:C0406810, + UMLS:C1418907, + UMLS:C1864846, + UMLS:C2607929, + UMLS:C2931787, + UMLS:C4016392, + UMLS:C4016393, + UMLS:C4016394, + HGNC:9388, + HGNC_symbol:PRKAR1A ; biolink:category biolink:Gene . OMIM:188840 a owl:Class ; @@ -74384,13 +76292,14 @@ OMIM:188840 a owl:Class ; PMID:9359044 ; RO:0002525 CHR:9606chr2q31.2 ; RO:0003303 OMIM:600334 ; - oboInOwl:hasDbXref UMLS:C1421222 ; oboInOwl:hasExactSynonym "TTN", "connectin", "titin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7273 ; - skos:exactMatch HGNC_symbol:TTN ; + skos:exactMatch UMLS:C1421222, + HGNC:12403, + HGNC_symbol:TTN ; biolink:category biolink:Gene . OMIM:188850 a owl:Class ; @@ -74398,10 +76307,10 @@ OMIM:188850 a owl:Class ; IAO:0000142 PMID:11729321, PMID:15749886, PMID:2427440 ; - oboInOwl:hasDbXref UMLS:C0076628 ; oboInOwl:hasExactSynonym "histocompatibility 2, t-region locus 18", "thymus leukemia antigen", - "tl antigen" . + "tl antigen" ; + skos:exactMatch UMLS:C0076628 . OMIM:188860 a owl:Class ; rdfs:label "MAL" ; @@ -74410,43 +76319,44 @@ OMIM:188860 a owl:Class ; PMID:3494249, PMID:8088843, PMID:9003426 ; - oboInOwl:hasDbXref UMLS:C1416989 ; oboInOwl:hasExactSynonym "MAL", "myelin and lymphocyte protein", "t-cell differentiation protein", "t-lymphocyte maturation-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4118 ; - skos:exactMatch HGNC_symbol:MAL ; + skos:exactMatch UMLS:C1416989, + HGNC:6817, + HGNC_symbol:MAL ; biolink:category biolink:Gene . OMIM:189000 a owl:Class ; rdfs:label "toe, fifth, number of phalanges 1n" ; - oboInOwl:hasDbXref UMLS:C1861062 ; - oboInOwl:hasExactSynonym "toe, fifth, number of phalanges 1n" . + oboInOwl:hasExactSynonym "toe, fifth, number of phalanges 1n" ; + skos:exactMatch UMLS:C1861062 . OMIM:189100 a owl:Class ; rdfs:label "toe, misshapen" ; IAO:0000142 PMID:13137901, PMID:14779009 ; - oboInOwl:hasDbXref UMLS:C1861061 ; - oboInOwl:hasExactSynonym "toe, misshapen" . + oboInOwl:hasExactSynonym "toe, misshapen" ; + skos:exactMatch UMLS:C1861061 . OMIM:189150 a owl:Class ; rdfs:label "toe, rotated fifth" ; - oboInOwl:hasDbXref UMLS:C1861060 ; - oboInOwl:hasExactSynonym "toe, rotated fifth" . + oboInOwl:hasExactSynonym "toe, rotated fifth" ; + skos:exactMatch UMLS:C1861060 . OMIM:189200 a owl:Class ; rdfs:label "toes, relative length of first and second" ; IAO:0000142 PMID:14198926 ; - oboInOwl:hasDbXref UMLS:C1861059 ; - oboInOwl:hasExactSynonym "toes, relative length of first and second" . + oboInOwl:hasExactSynonym "toes, relative length of first and second" ; + skos:exactMatch UMLS:C1861059 . OMIM:189230 a owl:Class ; rdfs:label "toes, space between first and second" ; - oboInOwl:hasDbXref UMLS:C1861058 ; - oboInOwl:hasExactSynonym "toes, space between first and second" . + oboInOwl:hasExactSynonym "toes, space between first and second" ; + skos:exactMatch UMLS:C1861058 . OMIM:189300 a owl:Class ; rdfs:label "tongue curling, folding, or rolling" ; @@ -74458,12 +76368,12 @@ OMIM:189300 a owl:Class ; PMID:468864, PMID:5419380, PMID:8267009 ; - oboInOwl:hasDbXref UMLS:C1861055, - UMLS:C1861056, - UMLS:C1861057 ; oboInOwl:hasExactSynonym "cloverleaf tongue", "tongue curling, folding, or rolling", - "trefoil tongue" . + "trefoil tongue" ; + skos:exactMatch UMLS:C1861055, + UMLS:C1861056, + UMLS:C1861057 . OMIM:189490 a owl:Class ; rdfs:label "malposition of teeth with or without hypodontia/oligodontia" ; @@ -74473,9 +76383,9 @@ OMIM:189490 a owl:Class ; PMID:3233785, PMID:7978519, PMID:8955668 ; - oboInOwl:hasDbXref UMLS:C2752157 ; oboInOwl:hasExactSynonym "ectopic eruption of teeth", - "malposition of teeth with or without hypodontia/oligodontia" . + "malposition of teeth with or without hypodontia/oligodontia" ; + skos:exactMatch UMLS:C2752157 . OMIM:189500 a owl:Class ; rdfs:label "witkop syndrome" ; @@ -74485,13 +76395,13 @@ OMIM:189500 a owl:Class ; PMID:4521949, PMID:469885, PMID:5254120 ; - oboInOwl:hasDbXref UMLS:C0406735 ; oboInOwl:hasExactSynonym "ectodermal dysplasia 3, tooth/nail iia", "ectodermal dysplasia 3, witkop iia", "nail dysplasia with hypodontia", "tooth-and-nail syndrome", "witkop syndrome" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C0406735 ; biolink:category biolink:Disease . OMIM:189600 a owl:Class ; @@ -74500,8 +76410,8 @@ OMIM:189600 a owl:Class ; PMID:14231376, PMID:556814, PMID:9091917 ; - oboInOwl:hasDbXref UMLS:C0040485 ; - oboInOwl:hasExactSynonym "torticollis" . + oboInOwl:hasExactSynonym "torticollis" ; + skos:exactMatch UMLS:C0040485 . OMIM:189700 a owl:Class ; rdfs:label "torus palatinus and torus mandibularis" ; @@ -74510,15 +76420,14 @@ OMIM:189700 a owl:Class ; PMID:3759107, PMID:7234986, PMID:9450873 ; - oboInOwl:hasDbXref UMLS:C1861044 ; oboInOwl:hasExactSynonym "torus palatinus and torus mandibularis" ; + skos:exactMatch UMLS:C1861044 ; biolink:category biolink:Disease . OMIM:189880 a owl:Class ; rdfs:label "TRN-GTT2-7" ; IAO:0000142 PMID:2757033, PMID:4929578 ; - oboInOwl:hasDbXref UMLS:C5239945 ; oboInOwl:hasExactSynonym "TRN-GTT2-7", "transfer RNA asparagine 1", "trn", @@ -74527,7 +76436,9 @@ OMIM:189880 a owl:Class ; "trna-asn (anticodon gtt) 2-7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7214 ; - skos:exactMatch HGNC_symbol:TRN-GTT2-7 ; + skos:exactMatch UMLS:C5239945, + HGNC:54714, + HGNC_symbol:TRN-GTT2-7 ; biolink:category biolink:Gene . OMIM:189889 a owl:Class ; @@ -74539,7 +76450,6 @@ OMIM:189889 a owl:Class ; PMID:8114710, PMID:8157699, PMID:8586452 ; - oboInOwl:hasDbXref UMLS:C1456377 ; oboInOwl:hasExactSynonym "TFCP2", "alpha-globin transcription factor cp2", "late sv40 factor", @@ -74548,15 +76458,17 @@ OMIM:189889 a owl:Class ; "transcription factor cp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7024 ; - skos:exactMatch HGNC_symbol:TFCP2 ; + skos:exactMatch UMLS:C1456377, + HGNC:11748, + HGNC_symbol:TFCP2 ; biolink:category biolink:Gene . OMIM:189890 a owl:Class ; rdfs:label "TRNL" ; - oboInOwl:hasDbXref UMLS:C1421162 ; oboInOwl:hasExactSynonym "TRNL", "transfer RNA asparagine-like" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1421162 ; biolink:category biolink:Gene . OMIM:189901 a owl:Class ; @@ -74564,26 +76476,28 @@ OMIM:189901 a owl:Class ; IAO:0000142 PMID:10500253, PMID:1370479, PMID:2556218 ; - oboInOwl:hasDbXref UMLS:C1412994 ; oboInOwl:hasExactSynonym "TCF9", "transcription factor 9", "transcriptional repressor gcf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6936 ; - skos:exactMatch HGNC_symbol:GCFC2 ; + skos:exactMatch UMLS:C1412994, + HGNC:1317, + HGNC_symbol:GCFC2 ; biolink:category biolink:Gene . OMIM:189904 a owl:Class ; rdfs:label "NFYB" ; IAO:0000142 PMID:1774067, PMID:21252292 ; - oboInOwl:hasDbXref UMLS:C1417716 ; oboInOwl:hasExactSynonym "NFYB", "nuclear transcription factor y, beta", "transcription factor nf-y, B subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4801 ; - skos:exactMatch HGNC_symbol:NFYB ; + skos:exactMatch UMLS:C1417716, + HGNC:7805, + HGNC_symbol:NFYB ; biolink:category biolink:Gene . OMIM:189905 a owl:Class ; @@ -74591,7 +76505,6 @@ OMIM:189905 a owl:Class ; IAO:0000142 PMID:1463480, PMID:2777761, PMID:540023 ; - oboInOwl:hasDbXref UMLS:C1420652 ; oboInOwl:hasExactSynonym "TCN1", "b12-binding alpha-globulin", "cobalophilin", @@ -74602,7 +76515,9 @@ OMIM:189905 a owl:Class ; "vitamin b12-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6947 ; - skos:exactMatch HGNC_symbol:TCN1 ; + skos:exactMatch UMLS:C1420652, + HGNC:11652, + HGNC_symbol:TCN1 ; biolink:category biolink:Gene . OMIM:189906 a owl:Class ; @@ -74618,13 +76533,14 @@ OMIM:189906 a owl:Class ; PMID:8259212, PMID:8404040, PMID:9685330 ; - oboInOwl:hasDbXref UMLS:C1335858 ; oboInOwl:hasExactSynonym "SP1", "specificity protein 1", "transcription factor sp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6667 ; - skos:exactMatch HGNC_symbol:SP1 ; + skos:exactMatch UMLS:C1335858, + HGNC:11205, + HGNC_symbol:SP1 ; biolink:category biolink:Gene . OMIM:189907 a owl:Class ; @@ -74660,7 +76576,6 @@ OMIM:189907 a owl:Class ; PMID:9796880 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:144700 ; - oboInOwl:hasDbXref UMLS:C1420636 ; oboInOwl:hasExactSynonym "HNF1B", "hepatic nuclear factor-1-beta", "hepatocyte nuclear factor 2", @@ -74670,7 +76585,9 @@ OMIM:189907 a owl:Class ; "transcription factor, liver-specific, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6928 ; - skos:exactMatch HGNC_symbol:HNF1B ; + skos:exactMatch UMLS:C1420636, + HGNC:11630, + HGNC_symbol:HNF1B ; biolink:category biolink:Gene . OMIM:189908 a owl:Class ; @@ -74687,14 +76604,15 @@ OMIM:189908 a owl:Class ; PMID:7626895, PMID:7870176, PMID:8622675 ; - oboInOwl:hasDbXref UMLS:C1420642 ; oboInOwl:hasExactSynonym "TCF7", "t cell factor 1", "transcription factor 7", "transcription factor, t cell-specific, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6932 ; - skos:exactMatch HGNC_symbol:TCF7 ; + skos:exactMatch UMLS:C1420642, + HGNC:11639, + HGNC_symbol:TCF7 ; biolink:category biolink:Gene . OMIM:189909 a owl:Class ; @@ -74715,7 +76633,6 @@ OMIM:189909 a owl:Class ; PMID:31719531 ; RO:0002525 CHR:9606chr10p11.22 ; RO:0003303 OMIM:609141 ; - oboInOwl:hasDbXref UMLS:C1420645 ; oboInOwl:hasExactSynonym "ZEB1", "delta-ef1", "nil2a", @@ -74724,13 +76641,14 @@ OMIM:189909 a owl:Class ; "zinc finger e box-binding homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6935 ; - skos:exactMatch HGNC_symbol:ZEB1 ; + skos:exactMatch UMLS:C1420645, + HGNC:11642, + HGNC_symbol:ZEB1 ; biolink:category biolink:Gene . OMIM:189910 a owl:Class ; rdfs:label "TRS-AGA2-3" ; IAO:0000142 PMID:3697066 ; - oboInOwl:hasDbXref UMLS:C1424161 ; oboInOwl:hasExactSynonym "TRS-AGA2-3", "transfer RNA serine (aga) 2-4", "transfer RNA serine 2", @@ -74740,7 +76658,9 @@ OMIM:189910 a owl:Class ; "trna-ser (anticodon aga) 2-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23437 ; - skos:exactMatch HGNC_symbol:TRS-AGA2-3 ; + skos:exactMatch UMLS:C1424161, + HGNC:16293, + HGNC_symbol:TRS-AGA2-3 ; biolink:category biolink:Gene . OMIM:189911 a owl:Class ; @@ -74748,7 +76668,6 @@ OMIM:189911 a owl:Class ; IAO:0000142 PMID:2613239, PMID:4929578, PMID:6904970 ; - oboInOwl:hasDbXref UMLS:C3891582 ; oboInOwl:hasExactSynonym "TRG-CCC1-1", "transfer RNA glycine 1", "transfer RNA glycine-ccc-1", @@ -74756,13 +76675,14 @@ OMIM:189911 a owl:Class ; "trna-gly (anticodon ccc) 1-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7195 ; - skos:exactMatch HGNC_symbol:TRG-CCC1-1 ; + skos:exactMatch UMLS:C3891582, + HGNC:38580, + HGNC_symbol:TRG-CCC1-1 ; biolink:category biolink:Gene . OMIM:189912 a owl:Class ; rdfs:label "TRP-TGG3-1" ; IAO:0000142 PMID:2613239 ; - oboInOwl:hasDbXref UMLS:C1421167 ; oboInOwl:hasExactSynonym "TRP-TGG3-1", "transfer RNA proline (tgg) 3-5", "transfer RNA proline 3", @@ -74771,13 +76691,14 @@ OMIM:189912 a owl:Class ; "trp3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7219 ; - skos:exactMatch HGNC_symbol:TRP-TGG3-1 ; + skos:exactMatch UMLS:C1421167, + HGNC:12332, + HGNC_symbol:TRP-TGG3-1 ; biolink:category biolink:Gene . OMIM:189913 a owl:Class ; rdfs:label "TRT-TGT6-1" ; IAO:0000142 PMID:2613239 ; - oboInOwl:hasDbXref UMLS:C1421184 ; oboInOwl:hasExactSynonym "TRT-TGT6-1", "transfer RNA threonine (tgt) 6-1", "transfer RNA threonine 1", @@ -74786,14 +76707,15 @@ OMIM:189913 a owl:Class ; "trt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7236 ; - skos:exactMatch HGNC_symbol:TRT-TGT6-1 ; + skos:exactMatch UMLS:C1421184, + HGNC:12350, + HGNC_symbol:TRT-TGT6-1 ; biolink:category biolink:Gene . OMIM:189918 a owl:Class ; rdfs:label "TRK-TTT3-5" ; IAO:0000142 PMID:2066114, PMID:7703509 ; - oboInOwl:hasDbXref UMLS:C1421153 ; oboInOwl:hasExactSynonym "TRK-TTT3-5", "transfer RNA lysine 1", "trna lysine (anticodon ttt) 3-5", @@ -74803,14 +76725,15 @@ OMIM:189918 a owl:Class ; "trna-lys (anticodon ttt) 3-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7206 ; - skos:exactMatch HGNC_symbol:TRK-TTT3-5 ; + skos:exactMatch UMLS:C1421153, + HGNC:12314, + HGNC_symbol:TRK-TTT3-5 ; biolink:category biolink:Gene . OMIM:189919 a owl:Class ; rdfs:label "TRQ-CTG1-5" ; IAO:0000142 PMID:2066114, PMID:7703509 ; - oboInOwl:hasDbXref UMLS:C1421176 ; oboInOwl:hasExactSynonym "TRQ-CTG1-5", "transfer RNA glutamine 1", "trna glutamine (anticodon ctg) 1-5", @@ -74818,14 +76741,15 @@ OMIM:189919 a owl:Class ; "trna-gln (anticodon ctg) 1-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7228 ; - skos:exactMatch HGNC_symbol:TRQ-CTG1-5 ; + skos:exactMatch UMLS:C1421176, + HGNC:12341, + HGNC_symbol:TRQ-CTG1-5 ; biolink:category biolink:Gene . OMIM:189920 a owl:Class ; rdfs:label "TRL-TAG1-1" ; IAO:0000142 PMID:2066114, PMID:7703509 ; - oboInOwl:hasDbXref UMLS:C1421155 ; oboInOwl:hasExactSynonym "TRL-TAG1-1", "transfer RNA leucine (anticodon tag) 1-1", "transfer RNA leucine 2", @@ -74834,7 +76758,9 @@ OMIM:189920 a owl:Class ; "trna-leu (anticodon tag) 1-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7208 ; - skos:exactMatch HGNC_symbol:TRL-TAG1-1 ; + skos:exactMatch UMLS:C1421155, + HGNC:12316, + HGNC_symbol:TRL-TAG1-1 ; biolink:category biolink:Gene . OMIM:189921 a owl:Class ; @@ -74842,7 +76768,6 @@ OMIM:189921 a owl:Class ; IAO:0000142 PMID:2766931, PMID:3023191, PMID:4929578 ; - oboInOwl:hasDbXref UMLS:C1421187 ; oboInOwl:hasExactSynonym "TRV-AAC1-4", "transfer RNA valine (aac) 1-4", "transfer RNA valine 1", @@ -74851,13 +76776,14 @@ OMIM:189921 a owl:Class ; "trna-val (anticodon aac) 1-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7239 ; - skos:exactMatch HGNC_symbol:TRV-AAC1-4 ; + skos:exactMatch UMLS:C1421187, + HGNC:12353, + HGNC_symbol:TRV-AAC1-4 ; biolink:category biolink:Gene . OMIM:189923 a owl:Class ; rdfs:label "TRQ-TTG1-1" ; IAO:0000142 PMID:2041751 ; - oboInOwl:hasDbXref UMLS:C1421177 ; oboInOwl:hasExactSynonym "TRQ-TTG1-1", "transfer RNA glutamine 2", "trna glutamine (anticodon ttg) 1-1", @@ -74865,14 +76791,15 @@ OMIM:189923 a owl:Class ; "trna-gln (anticodon ttg) 1-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7229 ; - skos:exactMatch HGNC_symbol:TRQ-TTG1-1 ; + skos:exactMatch UMLS:C1421177, + HGNC:12342, + HGNC_symbol:TRQ-TTG1-1 ; biolink:category biolink:Gene . OMIM:189930 a owl:Class ; rdfs:label "TRP-AGG2-5" ; IAO:0000142 PMID:1686015, PMID:3557125 ; - oboInOwl:hasDbXref UMLS:C1421165 ; oboInOwl:hasExactSynonym "TRP-AGG2-5", "transfer RNA proline 1", "trna proline (anticodon agg) 2-5", @@ -74880,14 +76807,15 @@ OMIM:189930 a owl:Class ; "trna-pro (anticodon agg) 2-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7217 ; - skos:exactMatch HGNC_symbol:TRP-AGG2-5 ; + skos:exactMatch UMLS:C1421165, + HGNC:12330, + HGNC_symbol:TRP-AGG2-5 ; biolink:category biolink:Gene . OMIM:189931 a owl:Class ; rdfs:label "TRP-AGG2-6" ; IAO:0000142 PMID:1686015, PMID:3557125 ; - oboInOwl:hasDbXref UMLS:C1421166 ; oboInOwl:hasExactSynonym "TRP-AGG2-6", "transfer RNA proline 2", "trna proline (anticodon agg) 2-6", @@ -74895,7 +76823,9 @@ OMIM:189931 a owl:Class ; "trna-pro (anticodon agg) 2-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7218 ; - skos:exactMatch HGNC_symbol:TRP-AGG2-6 ; + skos:exactMatch UMLS:C1421166, + HGNC:12331, + HGNC_symbol:TRP-AGG2-6 ; biolink:category biolink:Gene . OMIM:189932 a owl:Class ; @@ -74903,7 +76833,6 @@ OMIM:189932 a owl:Class ; IAO:0000142 PMID:1686015, PMID:22745432, PMID:3557125 ; - oboInOwl:hasDbXref UMLS:C1421154 ; oboInOwl:hasExactSynonym "TRL-AAG2-3", "transfer RNA leucine (aag) 2-1", "transfer RNA leucine 1", @@ -74912,14 +76841,15 @@ OMIM:189932 a owl:Class ; "trna-leu (anticodon aag) 2-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7207 ; - skos:exactMatch HGNC_symbol:TRL-AAG2-3 ; + skos:exactMatch UMLS:C1421154, + HGNC:12315, + HGNC_symbol:TRL-AAG2-3 ; biolink:category biolink:Gene . OMIM:189933 a owl:Class ; rdfs:label "TRT-TGT3-1" ; IAO:0000142 PMID:1686015, PMID:3557125 ; - oboInOwl:hasDbXref UMLS:C1421185 ; oboInOwl:hasExactSynonym "TRT-TGT3-1", "transfer RNA threonine 2", "trna threonine (anticodon tgt) 3-1", @@ -74927,7 +76857,9 @@ OMIM:189933 a owl:Class ; "trna-thr (anticodon tgt) 3-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7237 ; - skos:exactMatch HGNC_symbol:TRT-TGT3-1 ; + skos:exactMatch UMLS:C1421185, + HGNC:12351, + HGNC_symbol:TRT-TGT3-1 ; biolink:category biolink:Gene . OMIM:189940 a owl:Class ; @@ -74936,13 +76868,14 @@ OMIM:189940 a owl:Class ; PMID:3821733, PMID:4069211, PMID:7851906 ; - oboInOwl:hasDbXref UMLS:C1420877 ; oboInOwl:hasExactSynonym "TPR", "translocated promoter region", "tumor potentiating region" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7175 ; - skos:exactMatch HGNC_symbol:TPR ; + skos:exactMatch UMLS:C1420877, + HGNC:12017, + HGNC_symbol:TPR ; biolink:category biolink:Gene . OMIM:189960 a owl:Class ; @@ -74956,30 +76889,31 @@ OMIM:189960 a owl:Class ; PMID:6714984, PMID:7234408, PMID:7416122 ; - oboInOwl:hasDbXref UMLS:C1861028 ; oboInOwl:hasExactSynonym "esophageal atresia with or without tracheoesophageal fistula", - "tracheoesophageal fistula with or without esophageal atresia" . + "tracheoesophageal fistula with or without esophageal atresia" ; + skos:exactMatch UMLS:C1861028 . OMIM:189961 a owl:Class ; rdfs:label "tracheopathia osteoplastica" ; IAO:0000142 PMID:2509829 ; - oboInOwl:hasDbXref UMLS:C3887588 ; oboInOwl:hasExactSynonym "tracheobronchopathia osteochondroplastica", - "tracheopathia osteoplastica" . + "tracheopathia osteoplastica" ; + skos:exactMatch UMLS:C3887588 . OMIM:189962 a owl:Class ; rdfs:label "GTF2E1" ; IAO:0000142 PMID:11089979, PMID:1956398, PMID:1956403 ; - oboInOwl:hasDbXref UMLS:C1333719 ; oboInOwl:hasExactSynonym "GTF2E1", "general transcription factor iie, polypeptide 1", "tfiie, alpha subunit", "transcription factor iie, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2960 ; - skos:exactMatch HGNC_symbol:GTF2E1 ; + skos:exactMatch UMLS:C1333719, + HGNC:4650, + HGNC_symbol:GTF2E1 ; biolink:category biolink:Gene . OMIM:189963 a owl:Class ; @@ -74994,14 +76928,15 @@ OMIM:189963 a owl:Class ; PMID:23151482, PMID:7651839, PMID:7671313 ; - oboInOwl:hasDbXref UMLS:C1333718 ; oboInOwl:hasExactSynonym "GTF2B", "RNA polymerase 2 transcription factor 2b", "general transcription factor 2b", "transcription factor 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2959 ; - skos:exactMatch HGNC_symbol:GTF2B ; + skos:exactMatch UMLS:C1333718, + HGNC:4648, + HGNC_symbol:GTF2B ; biolink:category biolink:Gene . OMIM:189964 a owl:Class ; @@ -75011,14 +76946,15 @@ OMIM:189964 a owl:Class ; PMID:8786118 ; RO:0002525 CHR:9606chr8p12 ; RO:0003303 OMIM:616943 ; - oboInOwl:hasDbXref UMLS:C1333720 ; oboInOwl:hasExactSynonym "GTF2E2", "general transcription factor iie, polypeptide 2", "tfiie, beta subunit", "transcription factor iie, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2961 ; - skos:exactMatch HGNC_symbol:GTF2E2 ; + skos:exactMatch UMLS:C1333720, + HGNC:4651, + HGNC_symbol:GTF2E2 ; biolink:category biolink:Gene . OMIM:189965 a owl:Class ; @@ -75047,7 +76983,6 @@ OMIM:189965 a owl:Class ; PMID:8040336, PMID:8530045, PMID:9727068 ; - oboInOwl:hasDbXref UMLS:C1413323 ; oboInOwl:hasExactSynonym "CEBPB", "c/ebp-beta", "ccaat/enhancer-binding protein, beta", @@ -75058,7 +76993,9 @@ OMIM:189965 a owl:Class ; "transcription factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1051 ; - skos:exactMatch HGNC_symbol:CEBPB ; + skos:exactMatch UMLS:C1413323, + HGNC:1834, + HGNC_symbol:CEBPB ; biolink:category biolink:Gene . OMIM:189967 a owl:Class ; @@ -75072,15 +77009,16 @@ OMIM:189967 a owl:Class ; PMID:8921372 ; RO:0002525 CHR:9606chr11p15.3 ; RO:0003303 OMIM:108985 ; - oboInOwl:hasDbXref UMLS:C1420679, - UMLS:C1862382 ; oboInOwl:hasExactSynonym "TEAD1", "tea domain family member 1", "transcription factor 13", "transcriptional enhancer factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7003 ; - skos:exactMatch HGNC_symbol:TEAD1 ; + skos:exactMatch UMLS:C1420679, + UMLS:C1862382, + HGNC:11714, + HGNC_symbol:TEAD1 ; biolink:category biolink:Gene . OMIM:189968 a owl:Class ; @@ -75090,7 +77028,6 @@ OMIM:189968 a owl:Class ; PMID:2477704, PMID:7854423, PMID:8486367 ; - oboInOwl:hasDbXref UMLS:C1333721 ; oboInOwl:hasExactSynonym "GTF2F1", "general transcription factor iif, polypeptide 1, 74-kd", "rap74", @@ -75099,7 +77036,9 @@ OMIM:189968 a owl:Class ; "transcription factor iif, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2962 ; - skos:exactMatch HGNC_symbol:GTF2F1 ; + skos:exactMatch UMLS:C1333721, + HGNC:4652, + HGNC_symbol:GTF2F1 ; biolink:category biolink:Gene . OMIM:189969 a owl:Class ; @@ -75107,7 +77046,6 @@ OMIM:189969 a owl:Class ; IAO:0000142 PMID:1840667, PMID:2477704, PMID:7597077 ; - oboInOwl:hasDbXref UMLS:C1333722 ; oboInOwl:hasExactSynonym "GTF2F2", "general transcription factor iif, polypeptide 2, 30-kd", "rap30", @@ -75115,7 +77053,9 @@ OMIM:189969 a owl:Class ; "transcription factor iif, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2963 ; - skos:exactMatch HGNC_symbol:GTF2F2 ; + skos:exactMatch UMLS:C1333722, + HGNC:4653, + HGNC_symbol:GTF2F2 ; biolink:category biolink:Gene . OMIM:189970 a owl:Class ; @@ -75127,13 +77067,14 @@ OMIM:189970 a owl:Class ; PMID:6438626, PMID:8500562, PMID:8661128 ; - oboInOwl:hasDbXref UMLS:C1415161 ; oboInOwl:hasExactSynonym "GNGT1", "guanine nucleotide-binding protein, gamma-transducing activity polypeptide 1", "transducin, gamma polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2792 ; - skos:exactMatch HGNC_symbol:GNGT1 ; + skos:exactMatch UMLS:C1415161, + HGNC:4411, + HGNC_symbol:GNGT1 ; biolink:category biolink:Gene . OMIM:189971 a owl:Class ; @@ -75178,7 +77119,6 @@ OMIM:189971 a owl:Class ; PMID:9765200, PMID:9774967, PMID:9774968 ; - oboInOwl:hasDbXref UMLS:C0812258 ; oboInOwl:hasExactSynonym "E2F1", "e2f transcription factor 1", "retinoblastoma-associated protein 1", @@ -75186,7 +77126,9 @@ OMIM:189971 a owl:Class ; "transcription factor e2f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1869 ; - skos:exactMatch HGNC_symbol:E2F1 ; + skos:exactMatch UMLS:C0812258, + HGNC:3113, + HGNC_symbol:E2F1 ; biolink:category biolink:Gene . OMIM:189972 a owl:Class ; @@ -75203,7 +77145,6 @@ OMIM:189972 a owl:Class ; PMID:8162052, PMID:8855246, PMID:9118947 ; - oboInOwl:hasDbXref UMLS:C1333723 ; oboInOwl:hasExactSynonym "GTF2H1", "general transcription factor iih, polypeptide 1", "gtf2h, 62-kd subunit", @@ -75212,7 +77153,9 @@ OMIM:189972 a owl:Class ; "transcription factor iih, 62-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2965 ; - skos:exactMatch HGNC_symbol:GTF2H1 ; + skos:exactMatch UMLS:C1333723, + HGNC:4655, + HGNC_symbol:GTF2H1 ; biolink:category biolink:Gene . OMIM:189973 a owl:Class ; @@ -75221,14 +77164,15 @@ OMIM:189973 a owl:Class ; PMID:8493578, PMID:9135142, PMID:9524226 ; - oboInOwl:hasDbXref UMLS:C1414375 ; oboInOwl:hasExactSynonym "ELF1", "e74-like ets transcription factor 1", "e74-like factor 1", "ets-related transcription factor elf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1997 ; - skos:exactMatch HGNC_symbol:ELF1 ; + skos:exactMatch UMLS:C1414375, + HGNC:3316, + HGNC_symbol:ELF1 ; biolink:category biolink:Gene . OMIM:189974 a owl:Class ; @@ -75309,10 +77253,6 @@ OMIM:189980 a owl:Class ; PMID:9500553 ; RO:0002525 CHR:9606chr9q34.12 ; RO:0003303 OMIM:608232 ; - oboInOwl:hasDbXref UMLS:C1412097, - UMLS:C4016396, - UMLS:C4539857, - UMLS:C5193173 ; oboInOwl:hasExactSynonym "ABL1", "abelson murine leukemia viral oncogene homolog 1", "abelson strain of murine leukemia virus", @@ -75322,7 +77262,12 @@ OMIM:189980 a owl:Class ; "transformation gene: oncogene abl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25 ; - skos:exactMatch HGNC_symbol:ABL1 ; + skos:exactMatch UMLS:C1412097, + UMLS:C4016396, + UMLS:C4539857, + UMLS:C5193173, + HGNC:76, + HGNC_symbol:ABL1 ; biolink:category biolink:Gene . OMIM:189990 a owl:Class ; @@ -75355,7 +77300,6 @@ OMIM:189990 a owl:Class ; PMID:6954533, PMID:6955289 ; RO:0002525 CHR:9606chr6q23.3 ; - oboInOwl:hasDbXref UMLS:C0026900 ; oboInOwl:hasExactSynonym "MYB", "avian myeloblastosis viral oncogene homolog", "myb protooncogene, transcription factor", @@ -75364,7 +77308,9 @@ OMIM:189990 a owl:Class ; "v-myb avian myeloblastosis viral oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4602 ; - skos:exactMatch HGNC_symbol:MYB ; + skos:exactMatch UMLS:C0026900, + HGNC:7545, + HGNC_symbol:MYB ; biolink:category biolink:Gene . OMIM:190000 a owl:Class ; @@ -75414,12 +77360,13 @@ OMIM:190000 a owl:Class ; PMID:9803271 ; RO:0002525 CHR:9606chr3q22.1 ; RO:0003303 OMIM:209300 ; - oboInOwl:hasDbXref UMLS:C1442762 ; oboInOwl:hasExactSynonym "TF", "transferrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7018 ; - skos:exactMatch HGNC_symbol:TF ; + skos:exactMatch UMLS:C1442762, + HGNC:11740, + HGNC_symbol:TF ; biolink:category biolink:Gene . OMIM:190010 a owl:Class ; @@ -75451,7 +77398,6 @@ OMIM:190010 a owl:Class ; PMID:9732749 ; RO:0002525 CHR:9606chr3q29 ; RO:0003303 OMIM:616740 ; - oboInOwl:hasDbXref UMLS:C1420708 ; oboInOwl:hasExactSynonym "TFRC", "cd71", "tfr", @@ -75460,7 +77406,9 @@ OMIM:190010 a owl:Class ; "trfr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7037 ; - skos:exactMatch HGNC_symbol:TFRC ; + skos:exactMatch UMLS:C1420708, + HGNC:11763, + HGNC_symbol:TFRC ; biolink:category biolink:Gene . OMIM:190030 a owl:Class ; @@ -75479,7 +77427,6 @@ OMIM:190030 a owl:Class ; PMID:6586073, PMID:7121606, PMID:8449035 ; - oboInOwl:hasDbXref UMLS:C1414588 ; oboInOwl:hasExactSynonym "FES", "feline sarcoma virus", "fes protooncogene, tyrosine kinase", @@ -75488,7 +77435,9 @@ OMIM:190030 a owl:Class ; "v-fes feline sarcoma viral/v-fps fujinami avian sarcoma viral oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2242 ; - skos:exactMatch HGNC_symbol:FES ; + skos:exactMatch UMLS:C1414588, + HGNC:3657, + HGNC_symbol:FES ; biolink:category biolink:Gene . OMIM:190040 a owl:Class ; @@ -75539,8 +77488,6 @@ OMIM:190040 a owl:Class ; PMID:9211853 ; RO:0002525 CHR:9606chr22q13.1 ; RO:0003303 OMIM:607174 ; - oboInOwl:hasDbXref UMLS:C0751995, - UMLS:C1861000 ; oboInOwl:hasExactSynonym "PDGFB", "oncogene sis", "pdgf, B chain", @@ -75552,7 +77499,10 @@ OMIM:190040 a owl:Class ; "v-sis platelet-derived growth factor, beta polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5155 ; - skos:exactMatch HGNC_symbol:PDGFB ; + skos:exactMatch UMLS:C0751995, + UMLS:C1861000, + HGNC:8800, + HGNC_symbol:PDGFB ; biolink:category biolink:Gene . OMIM:190060 a owl:Class ; @@ -75576,7 +77526,6 @@ OMIM:190060 a owl:Class ; PMID:7143580, PMID:8015610, PMID:9001211 ; - oboInOwl:hasDbXref UMLS:C0026574 ; oboInOwl:hasExactSynonym "MOS", "moloney murine sarcoma virus", "mos protooncogene, serine/threonine kinase", @@ -75584,7 +77533,9 @@ OMIM:190060 a owl:Class ; "v-mos moloney murine sarcoma viral oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4342 ; - skos:exactMatch HGNC_symbol:MOS ; + skos:exactMatch UMLS:C0026574, + HGNC:7199, + HGNC_symbol:MOS ; biolink:category biolink:Gene . OMIM:190080 a owl:Class ; @@ -75701,8 +77652,6 @@ OMIM:190080 a owl:Class ; PMID:9988278 ; RO:0002525 CHR:9606chr8q24.21 ; RO:0003303 OMIM:113970 ; - oboInOwl:hasDbXref UMLS:C0086661, - UMLS:C5193175 ; oboInOwl:hasExactSynonym "MYC", "avian myelocytomatosis viral oncogene homolog", "myc protooncogene, bhlh transcription factor", @@ -75711,7 +77660,10 @@ OMIM:190080 a owl:Class ; "v-myc avian myelocytomatosis viral oncogene homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4609 ; - skos:exactMatch HGNC_symbol:MYC ; + skos:exactMatch UMLS:C0086661, + UMLS:C5193175, + HGNC:7553, + HGNC_symbol:MYC ; biolink:category biolink:Gene . OMIM:190090 a owl:Class ; @@ -75741,7 +77693,6 @@ OMIM:190090 a owl:Class ; PMID:9988270 ; RO:0002525 CHR:9606chr20q11.23 ; RO:0003303 OMIM:114500 ; - oboInOwl:hasDbXref UMLS:C0080298 ; oboInOwl:hasExactSynonym "SRC", "avian sarcoma virus", "oncogene src", @@ -75751,7 +77702,9 @@ OMIM:190090 a owl:Class ; "v-src avian sarcoma (schmidt-ruppin a-2) viral oncogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6714 ; - skos:exactMatch HGNC_symbol:SRC ; + skos:exactMatch UMLS:C0080298, + HGNC:11283, + HGNC_symbol:SRC ; biolink:category biolink:Gene . OMIM:190110 a owl:Class ; @@ -75842,7 +77795,6 @@ OMIM:190160 a owl:Class ; PMID:9861043 ; RO:0002525 CHR:9606chr3p24.2 ; RO:0003303 OMIM:145650 ; - oboInOwl:hasDbXref UMLS:C0242988 ; oboInOwl:hasExactSynonym "THRB", "erba-beta", "oncogene erba2", @@ -75850,7 +77802,9 @@ OMIM:190160 a owl:Class ; "v-erb-a avian erythroblastic leukemia viral oncogene homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7068 ; - skos:exactMatch HGNC_symbol:THRB ; + skos:exactMatch UMLS:C0242988, + HGNC:11799, + HGNC_symbol:THRB ; biolink:category biolink:Gene . OMIM:190170 a owl:Class ; @@ -75864,12 +77818,13 @@ OMIM:190170 a owl:Class ; PMID:3459638, PMID:3490662, PMID:8100806 ; - oboInOwl:hasDbXref UMLS:C1336620 ; oboInOwl:hasExactSynonym "TGFA", "transforming growth factor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7039 ; - skos:exactMatch HGNC_symbol:TGFA ; + skos:exactMatch UMLS:C1336620, + HGNC:11765, + HGNC_symbol:TGFA ; biolink:category biolink:Gene . OMIM:190180 a owl:Class ; @@ -75978,17 +77933,18 @@ OMIM:190180 a owl:Class ; PMID:9931116 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:219700 ; - oboInOwl:hasDbXref UMLS:C0011989, - UMLS:C1366557, - UMLS:C1968974, - UMLS:C4016407, - UMLS:C4748708 ; oboInOwl:hasExactSynonym "TGFB1", "tgf-beta", "transforming growth factor, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7040 ; - skos:exactMatch HGNC_symbol:TGFB1 ; + skos:exactMatch UMLS:C0011989, + UMLS:C1366557, + UMLS:C1968974, + UMLS:C4016407, + UMLS:C4748708, + HGNC:11766, + HGNC_symbol:TGFB1 ; biolink:category biolink:Gene . OMIM:190181 a owl:Class ; @@ -76017,13 +77973,14 @@ OMIM:190181 a owl:Class ; PMID:9661882 ; RO:0002525 CHR:9606chr9q22.33 ; RO:0003303 OMIM:132800 ; - oboInOwl:hasDbXref UMLS:C1336624 ; oboInOwl:hasExactSynonym "TGFBR1", "activin receptor-like kinase 5", "transforming growth factor-beta receptor, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7046 ; - skos:exactMatch HGNC_symbol:TGFBR1 ; + skos:exactMatch UMLS:C1336624, + HGNC:11772, + HGNC_symbol:TGFBR1 ; biolink:category biolink:Gene . OMIM:190182 a owl:Class ; @@ -76070,12 +78027,13 @@ OMIM:190182 a owl:Class ; PMID:9927040 ; RO:0002525 CHR:9606chr3p24.1 ; RO:0003303 OMIM:610168 ; - oboInOwl:hasDbXref UMLS:C0919538 ; oboInOwl:hasExactSynonym "TGFBR2", "transforming growth factor-beta receptor, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7048 ; - skos:exactMatch HGNC_symbol:TGFBR2 ; + skos:exactMatch UMLS:C0919538, + HGNC:11773, + HGNC_symbol:TGFBR2 ; biolink:category biolink:Gene . OMIM:190190 a owl:Class ; @@ -76117,16 +78075,17 @@ OMIM:190195 a owl:Class ; PMID:9887377 ; RO:0002525 CHR:9606chr14q12 ; RO:0003303 OMIM:242300 ; - oboInOwl:hasDbXref UMLS:C1420713, - UMLS:C4016409, - UMLS:C4551630 ; oboInOwl:hasExactSynonym "TGM1", "transglutaminase 1", "transglutaminase, epidermal iia 1", "transglutaminase, keratinocyte" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7051 ; - skos:exactMatch HGNC_symbol:TGM1 ; + skos:exactMatch UMLS:C1420713, + UMLS:C4016409, + UMLS:C4551630, + HGNC:11777, + HGNC_symbol:TGM1 ; biolink:category biolink:Gene . OMIM:190196 a owl:Class ; @@ -76149,7 +78108,6 @@ OMIM:190196 a owl:Class ; PMID:7935379, PMID:8943303, PMID:9212111 ; - oboInOwl:hasDbXref UMLS:C1420714 ; oboInOwl:hasExactSynonym "TGM2", "g protein, alpha subunit, gh class", "g-alpha-h", @@ -76159,7 +78117,9 @@ OMIM:190196 a owl:Class ; "transglutaminase, tissue" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7052 ; - skos:exactMatch HGNC_symbol:TGM2 ; + skos:exactMatch UMLS:C1420714, + HGNC:11778, + HGNC_symbol:TGM2 ; biolink:category biolink:Gene . OMIM:190197 a owl:Class ; @@ -76175,8 +78135,6 @@ OMIM:190197 a owl:Class ; PMID:8586412 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:615400 ; - oboInOwl:hasDbXref UMLS:C1413560, - UMLS:C3809374 ; oboInOwl:hasExactSynonym "CNTN2", "axonin 1", "contactin 2", @@ -76184,7 +78142,10 @@ OMIM:190197 a owl:Class ; "transiently-expressed axonal glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6900 ; - skos:exactMatch HGNC_symbol:CNTN2 ; + skos:exactMatch UMLS:C1413560, + UMLS:C3809374, + HGNC:2172, + HGNC_symbol:CNTN2 ; biolink:category biolink:Gene . OMIM:190198 a owl:Class ; @@ -76311,23 +78272,24 @@ OMIM:190198 a owl:Class ; PMID:9727485 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:109730 ; - oboInOwl:hasDbXref UMLS:C1334889, - UMLS:C3887892, - UMLS:C4014970 ; oboInOwl:hasExactSynonym "NOTCH1", "notch receptor 1", "notch, drosophila, homolog of, 1", "translocation-associated notch homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4851 ; - skos:exactMatch HGNC_symbol:NOTCH1 ; + skos:exactMatch UMLS:C1334889, + UMLS:C3887892, + UMLS:C4014970, + HGNC:7881, + HGNC_symbol:NOTCH1 ; biolink:category biolink:Gene . OMIM:190200 a owl:Class ; rdfs:label "tremor of intention, ataxia, and lipofuscinosis" ; IAO:0000142 PMID:5815223 ; - oboInOwl:hasDbXref UMLS:C1860872 ; - oboInOwl:hasExactSynonym "tremor of intention, ataxia, and lipofuscinosis" . + oboInOwl:hasExactSynonym "tremor of intention, ataxia, and lipofuscinosis" ; + skos:exactMatch UMLS:C1860872 . OMIM:190220 a owl:Class ; rdfs:label "TGFB2" ; @@ -76349,12 +78311,13 @@ OMIM:190220 a owl:Class ; PMID:9217007 ; RO:0002525 CHR:9606chr1q41 ; RO:0003303 OMIM:614816 ; - oboInOwl:hasDbXref UMLS:C1336621 ; oboInOwl:hasExactSynonym "TGFB2", "transforming growth factor, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7042 ; - skos:exactMatch HGNC_symbol:TGFB2 ; + skos:exactMatch UMLS:C1336621, + HGNC:11768, + HGNC_symbol:TGFB2 ; biolink:category biolink:Gene . OMIM:190230 a owl:Class ; @@ -76378,12 +78341,13 @@ OMIM:190230 a owl:Class ; PMID:7493022 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:615582 ; - oboInOwl:hasDbXref UMLS:C1336622 ; oboInOwl:hasExactSynonym "TGFB3", "transforming growth factor, beta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7043 ; - skos:exactMatch HGNC_symbol:TGFB3 ; + skos:exactMatch UMLS:C1336622, + HGNC:11769, + HGNC_symbol:TGFB3 ; biolink:category biolink:Gene . OMIM:190231 a owl:Class ; @@ -76392,13 +78356,14 @@ OMIM:190231 a owl:Class ; PMID:1685480, PMID:17943087, PMID:2249851 ; - oboInOwl:hasDbXref UMLS:C1420830 ; oboInOwl:hasExactSynonym "TNP1", "tp1", "transition protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7141 ; - skos:exactMatch HGNC_symbol:TNP1 ; + skos:exactMatch UMLS:C1420830, + HGNC:11951, + HGNC_symbol:TNP1 ; biolink:category biolink:Gene . OMIM:190232 a owl:Class ; @@ -76408,12 +78373,13 @@ OMIM:190232 a owl:Class ; PMID:1395729, PMID:17682055, PMID:8428967 ; - oboInOwl:hasDbXref UMLS:C1420831 ; oboInOwl:hasExactSynonym "TNP2", "transition protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7142 ; - skos:exactMatch HGNC_symbol:TNP2 ; + skos:exactMatch UMLS:C1420831, + HGNC:11952, + HGNC_symbol:TNP2 ; biolink:category biolink:Gene . OMIM:190300 a owl:Class ; @@ -76451,18 +78417,18 @@ OMIM:190300 a owl:Class ; PMID:9399207, PMID:9827627, PMID:9887334 ; - oboInOwl:hasDbXref UMLS:C1860861 ; oboInOwl:hasExactSynonym "ETM1", "tremor, familial essential, 1", "tremor, hereditary essential, 1" ; rdfs:subClassOf OMIMPS:190300 ; + skos:exactMatch UMLS:C1860861 ; biolink:category biolink:Disease . OMIM:190310 a owl:Class ; rdfs:label "tremor, nystagmus, and duodenal ulcer" ; IAO:0000142 PMID:1248168 ; - oboInOwl:hasDbXref UMLS:C1860860 ; oboInOwl:hasExactSynonym "tremor, nystagmus, and duodenal ulcer" ; + skos:exactMatch UMLS:C1860860 ; biolink:category biolink:Disease . OMIM:190315 a owl:Class ; @@ -76481,9 +78447,6 @@ OMIM:190315 a owl:Class ; PMID:9254007 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:618197 ; - oboInOwl:hasDbXref UMLS:C1420150, - UMLS:C2746066, - UMLS:C4748678 ; oboInOwl:hasExactSynonym "SLC25A1", "citrate transport protein", "scheggia, drosophila, homolog of", @@ -76492,7 +78455,11 @@ OMIM:190315 a owl:Class ; "tricarboxylate transport protein, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6576 ; - skos:exactMatch HGNC_symbol:SLC25A1 ; + skos:exactMatch UMLS:C1420150, + UMLS:C2746066, + UMLS:C4748678, + HGNC:10979, + HGNC_symbol:SLC25A1 ; biolink:category biolink:Gene . OMIM:190340 a owl:Class ; @@ -76501,10 +78468,10 @@ OMIM:190340 a owl:Class ; PMID:21794948, PMID:4015134, PMID:4843452 ; - oboInOwl:hasDbXref UMLS:C1860850 ; oboInOwl:hasExactSynonym "FMDF", "discoid fibromas, familial multiple", "trichodiscomas, familial multiple" ; + skos:exactMatch UMLS:C1860850 ; biolink:category biolink:Disease . OMIM:190345 a owl:Class ; @@ -76513,14 +78480,14 @@ OMIM:190345 a owl:Class ; PMID:4051134, PMID:589563, PMID:884894 ; - oboInOwl:hasDbXref UMLS:C1860849 ; - oboInOwl:hasExactSynonym "trichoepitheliomas, multiple desmoplastic" . + oboInOwl:hasExactSynonym "trichoepitheliomas, multiple desmoplastic" ; + skos:exactMatch UMLS:C1860849 . OMIM:190360 a owl:Class ; rdfs:label "trichodysplasia-xeroderma" ; IAO:0000142 PMID:3608221 ; - oboInOwl:hasDbXref UMLS:C1860822 ; - oboInOwl:hasExactSynonym "trichodysplasia-xeroderma" . + oboInOwl:hasExactSynonym "trichodysplasia-xeroderma" ; + skos:exactMatch UMLS:C1860822 . OMIM:190370 a owl:Class ; rdfs:label "TCHH" ; @@ -76534,7 +78501,6 @@ OMIM:190370 a owl:Class ; PMID:8423399 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:617252 ; - oboInOwl:hasDbXref UMLS:C1420724 ; oboInOwl:hasExactSynonym "TCHH", "thh", "thl", @@ -76542,7 +78508,9 @@ OMIM:190370 a owl:Class ; "trichohyalin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7062 ; - skos:exactMatch HGNC_symbol:TCHH ; + skos:exactMatch UMLS:C1420724, + HGNC:11791, + HGNC_symbol:TCHH ; biolink:category biolink:Gene . OMIM:190400 a owl:Class ; @@ -76553,29 +78521,29 @@ OMIM:190400 a owl:Class ; PMID:2716987, PMID:4737685, PMID:7387447 ; - oboInOwl:hasDbXref UMLS:C0040997 ; oboInOwl:hasExactSynonym "tic douloureux", - "trigeminal neuralgia" . + "trigeminal neuralgia" ; + skos:exactMatch UMLS:C0040997 . OMIM:190410 a owl:Class ; rdfs:label "trigger thumb" ; IAO:0000142 PMID:22691680, PMID:7061009 ; - oboInOwl:hasDbXref UMLS:C0410060 ; - oboInOwl:hasExactSynonym "trigger thumb" . + oboInOwl:hasExactSynonym "trigger thumb" ; + skos:exactMatch UMLS:C0410060 . OMIM:190420 a owl:Class ; rdfs:label "triglyceride storage disease, iia 1" ; IAO:0000142 PMID:840564 ; - oboInOwl:hasDbXref UMLS:C1860821 ; - oboInOwl:hasExactSynonym "triglyceride storage disease, iia 1" . + oboInOwl:hasExactSynonym "triglyceride storage disease, iia 1" ; + skos:exactMatch UMLS:C1860821 . OMIM:190430 a owl:Class ; rdfs:label "triglyceride storage disease, iia 2" ; IAO:0000142 PMID:187005, PMID:4362787 ; - oboInOwl:hasDbXref UMLS:C1860820 ; - oboInOwl:hasExactSynonym "triglyceride storage disease, iia 2" . + oboInOwl:hasExactSynonym "triglyceride storage disease, iia 2" ; + skos:exactMatch UMLS:C1860820 . OMIM:190450 a owl:Class ; rdfs:label "TPI1" ; @@ -76617,13 +78585,14 @@ OMIM:190450 a owl:Class ; PMID:9763583 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:615512 ; - oboInOwl:hasDbXref UMLS:C1420871 ; oboInOwl:hasExactSynonym "TPI1", "tpi", "triosephosphate isomerase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7167 ; - skos:exactMatch HGNC_symbol:TPI1 ; + skos:exactMatch UMLS:C1420871, + HGNC:12009, + HGNC_symbol:TPI1 ; biolink:category biolink:Gene . OMIM:190470 a owl:Class ; @@ -76638,26 +78607,27 @@ OMIM:190470 a owl:Class ; PMID:9974389 ; RO:0002525 CHR:9606chr13q33.1 ; RO:0003303 OMIM:619220 ; - oboInOwl:hasDbXref UMLS:C1420876 ; oboInOwl:hasExactSynonym "TPP2", "tripeptidyl peptidase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7174 ; - skos:exactMatch HGNC_symbol:TPP2 ; + skos:exactMatch UMLS:C1420876, + HGNC:12016, + HGNC_symbol:TPP2 ; biolink:category biolink:Gene . OMIM:190500 a owl:Class ; rdfs:label "triphalangeal thumb with double phalanges" ; - oboInOwl:hasDbXref UMLS:C1860807 ; - oboInOwl:hasExactSynonym "triphalangeal thumb with double phalanges" . + oboInOwl:hasExactSynonym "triphalangeal thumb with double phalanges" ; + skos:exactMatch UMLS:C1860807 . OMIM:190600 a owl:Class ; rdfs:label "triphalangeal thumb, nonopposable" ; IAO:0000142 PMID:3050097, PMID:3385742, PMID:4469990 ; - oboInOwl:hasDbXref UMLS:C2931238 ; oboInOwl:hasExactSynonym "triphalangeal thumb, nonopposable" ; + skos:exactMatch UMLS:C2931238 ; biolink:category biolink:Disease . OMIM:190605 a owl:Class ; @@ -76666,16 +78636,16 @@ OMIM:190605 a owl:Class ; OMIM:190650 a owl:Class ; rdfs:label "triphalangeal thumbs and dislocation of patella" ; - oboInOwl:hasDbXref UMLS:C1860805 ; - oboInOwl:hasExactSynonym "triphalangeal thumbs and dislocation of patella" . + oboInOwl:hasExactSynonym "triphalangeal thumbs and dislocation of patella" ; + skos:exactMatch UMLS:C1860805 . OMIM:190680 a owl:Class ; rdfs:label "triphalangeal thumbs with brachyectrodactyly" ; IAO:0000142 PMID:3568429, PMID:7438506, PMID:8946115 ; - oboInOwl:hasDbXref UMLS:C1860804 ; oboInOwl:hasExactSynonym "triphalangeal thumbs with brachyectrodactyly" ; + skos:exactMatch UMLS:C1860804 ; biolink:category biolink:Disease . OMIM:190700 a owl:Class ; @@ -76696,34 +78666,36 @@ OMIM:190700 a owl:Class ; PMID:8568271, PMID:9153367, PMID:9703499 ; - oboInOwl:hasDbXref UMLS:C1421571 ; oboInOwl:hasExactSynonym "ZFP36", "tristetraprolin", "zfp36 ring finger protein", "zinc finger protein 36, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7538 ; - skos:exactMatch HGNC_symbol:ZFP36 ; + skos:exactMatch UMLS:C1421571, + HGNC:12862, + HGNC_symbol:ZFP36 ; biolink:category biolink:Gene . OMIM:190800 a owl:Class ; rdfs:label "tristichiasis" ; - oboInOwl:hasDbXref UMLS:C1860785 ; oboInOwl:hasExactSynonym "eyelashes, three rows of", - "tristichiasis" . + "tristichiasis" ; + skos:exactMatch UMLS:C1860785 . OMIM:190920 a owl:Class ; rdfs:label "TPBG" ; IAO:0000142 PMID:10366710, PMID:2323778, PMID:8132670 ; - oboInOwl:hasDbXref UMLS:C1420868 ; oboInOwl:hasExactSynonym "TPBG", "m6p1", "trophoblast glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7162 ; - skos:exactMatch HGNC_symbol:TPBG ; + skos:exactMatch UMLS:C1420868, + HGNC:12004, + HGNC_symbol:TPBG ; biolink:category biolink:Gene . OMIM:190930 a owl:Class ; @@ -76739,64 +78711,65 @@ OMIM:190930 a owl:Class ; PMID:8434261, PMID:8661028, PMID:8954802 ; - oboInOwl:hasDbXref UMLS:C1420779 ; oboInOwl:hasExactSynonym "TMOD", "e-tropomodulin", "tropomodulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7111 ; - skos:exactMatch HGNC_symbol:TMOD1 ; + skos:exactMatch UMLS:C1420779, + HGNC:11871, + HGNC_symbol:TMOD1 ; biolink:category biolink:Gene . OMIM:190940 a owl:Class ; rdfs:label "ERVT1" ; IAO:0000142 PMID:3016318, PMID:6089336 ; - oboInOwl:hasDbXref UMLS:C1860781 ; oboInOwl:hasExactSynonym "ERVT1", "endogenous retroviral sequence, truncated 1", "truncated endogenous retroviral sequence 1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1860781 ; biolink:category biolink:Gene . OMIM:190950 a owl:Class ; rdfs:label "ERVT2" ; IAO:0000142 PMID:3016318 ; - oboInOwl:hasDbXref UMLS:C1860780 ; oboInOwl:hasExactSynonym "ERVT2", "endogenous retroviral sequence, truncated 2", "truncated endogenous retroviral sequence 2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1860780 ; biolink:category biolink:Gene . OMIM:190960 a owl:Class ; rdfs:label "ERVT3" ; IAO:0000142 PMID:3016318 ; - oboInOwl:hasDbXref UMLS:C1860779 ; oboInOwl:hasExactSynonym "ERVT3", "endogenous retroviral sequence, truncated 3", "truncated endogenous retroviral sequence 3" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1860779 ; biolink:category biolink:Gene . OMIM:190970 a owl:Class ; rdfs:label "ERVT4" ; IAO:0000142 PMID:3016318 ; - oboInOwl:hasDbXref UMLS:C1860778 ; oboInOwl:hasExactSynonym "ERVT4", "endogenous retroviral sequence, truncated 4", "truncated endogenous retroviral sequence 4" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1860778 ; biolink:category biolink:Gene . OMIM:190980 a owl:Class ; rdfs:label "ERVT5" ; IAO:0000142 PMID:3016318 ; - oboInOwl:hasDbXref UMLS:C1860777 ; oboInOwl:hasExactSynonym "ERVT5", "endogenous retroviral sequence, truncated 5", "truncated endogenous retroviral sequence 5" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1860777 ; biolink:category biolink:Gene . OMIM:190990 a owl:Class ; @@ -76823,19 +78796,20 @@ OMIM:190990 a owl:Class ; PMID:9016781 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:609285 ; - oboInOwl:hasDbXref UMLS:C1420873 ; oboInOwl:hasExactSynonym "TPM2", "tropomyosin 2", "tropomyosin, skeletal muscle beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7169 ; - skos:exactMatch HGNC_symbol:TPM2 ; + skos:exactMatch UMLS:C1420873, + HGNC:12011, + HGNC_symbol:TPM2 ; biolink:category biolink:Gene . OMIM:191000 a owl:Class ; rdfs:label "trochlea of the humerus, aplasia of" ; - oboInOwl:hasDbXref UMLS:C1860773 ; - oboInOwl:hasExactSynonym "trochlea of the humerus, aplasia of" . + oboInOwl:hasExactSynonym "trochlea of the humerus, aplasia of" ; + skos:exactMatch UMLS:C1860773 . OMIM:191010 a owl:Class ; rdfs:label "TPM1" ; @@ -76864,13 +78838,14 @@ OMIM:191010 a owl:Class ; PMID:9400381 ; RO:0002525 CHR:9606chr15q22.2 ; RO:0003303 OMIM:611878 ; - oboInOwl:hasDbXref UMLS:C1420872 ; oboInOwl:hasExactSynonym "TPM1", "tropomyosin 1", "tropomyosin, skeletal muscle alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7168 ; - skos:exactMatch HGNC_symbol:TPM1 ; + skos:exactMatch UMLS:C1420872, + HGNC:12010, + HGNC_symbol:TPM1 ; biolink:category biolink:Gene . OMIM:191020 a owl:Class ; @@ -76883,13 +78858,14 @@ OMIM:191039 a owl:Class ; PMID:3166492, PMID:9016781, PMID:9459007 ; - oboInOwl:hasDbXref UMLS:C1420823 ; oboInOwl:hasExactSynonym "TNNC2", "troponin c, fast", "troponin c, fast skeletal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7125 ; - skos:exactMatch HGNC_symbol:TNNC2 ; + skos:exactMatch UMLS:C1420823, + HGNC:11944, + HGNC_symbol:TNNC2 ; biolink:category biolink:Gene . OMIM:191040 a owl:Class ; @@ -76910,14 +78886,15 @@ OMIM:191040 a owl:Class ; PMID:978749 ; RO:0002525 CHR:9606chr3p21.1 ; RO:0003303 OMIM:613243 ; - oboInOwl:hasDbXref UMLS:C1420822 ; oboInOwl:hasExactSynonym "TNNC1", "troponin c, cardiac", "troponin c, slow", "troponin c, slow-twitch skeletal muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7134 ; - skos:exactMatch HGNC_symbol:TNNC1 ; + skos:exactMatch UMLS:C1420822, + HGNC:11943, + HGNC_symbol:TNNC1 ; biolink:category biolink:Gene . OMIM:191041 a owl:Class ; @@ -76935,14 +78912,15 @@ OMIM:191041 a owl:Class ; PMID:8432525 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:605355 ; - oboInOwl:hasDbXref UMLS:C1420827, - UMLS:C1854380 ; oboInOwl:hasExactSynonym "TNNT1", "troponin t", "troponin t1, skeletal, slow" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7138 ; - skos:exactMatch HGNC_symbol:TNNT1 ; + skos:exactMatch UMLS:C1420827, + UMLS:C1854380, + HGNC:11948, + HGNC_symbol:TNNT1 ; biolink:category biolink:Gene . OMIM:191042 a owl:Class ; @@ -76950,12 +78928,13 @@ OMIM:191042 a owl:Class ; IAO:0000142 PMID:2365354, PMID:8903721, PMID:9016781 ; - oboInOwl:hasDbXref UMLS:C1420824 ; oboInOwl:hasExactSynonym "TNNI1", "troponin i, slow-twitch skeletal muscle isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7135 ; - skos:exactMatch HGNC_symbol:TNNI1 ; + skos:exactMatch UMLS:C1420824, + HGNC:11945, + HGNC_symbol:TNNI1 ; biolink:category biolink:Gene . OMIM:191043 a owl:Class ; @@ -76976,12 +78955,13 @@ OMIM:191043 a owl:Class ; PMID:9543552 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:601680 ; - oboInOwl:hasDbXref UMLS:C1420825 ; oboInOwl:hasExactSynonym "TNNI2", "troponin i, fast-twitch skeletal muscle isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7136 ; - skos:exactMatch HGNC_symbol:TNNI2 ; + skos:exactMatch UMLS:C1420825, + HGNC:11946, + HGNC_symbol:TNNI2 ; biolink:category biolink:Gene . OMIM:191044 a owl:Class ; @@ -77012,13 +78992,14 @@ OMIM:191044 a owl:Class ; PMID:9605869 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:613690 ; - oboInOwl:hasDbXref UMLS:C1420826 ; oboInOwl:hasExactSynonym "TNNI3", "troponin i, cardiac", "troponin i, cardiac muscle isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7137 ; - skos:exactMatch HGNC_symbol:TNNI3 ; + skos:exactMatch UMLS:C1420826, + HGNC:11947, + HGNC_symbol:TNNI3 ; biolink:category biolink:Gene . OMIM:191045 a owl:Class ; @@ -77068,12 +79049,13 @@ OMIM:191045 a owl:Class ; PMID:9826713 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:601494 ; - oboInOwl:hasDbXref UMLS:C1420828 ; oboInOwl:hasExactSynonym "TNNT2", "troponin t2, cardiac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7139 ; - skos:exactMatch HGNC_symbol:TNNT2 ; + skos:exactMatch UMLS:C1420828, + HGNC:11949, + HGNC_symbol:TNNT2 ; biolink:category biolink:Gene . OMIM:191050 a owl:Class ; @@ -77097,8 +79079,6 @@ OMIM:191050 a owl:Class ; PMID:8856077 ; RO:0002525 CHR:9606chr14q32.2 ; RO:0003303 OMIM:617721 ; - oboInOwl:hasDbXref UMLS:C1421476, - UMLS:C4540265 ; oboInOwl:hasExactSynonym "WARS1", "ifp53", "trprs", @@ -77107,7 +79087,10 @@ OMIM:191050 a owl:Class ; "wars" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7453 ; - skos:exactMatch HGNC_symbol:WARS1 ; + skos:exactMatch UMLS:C1421476, + UMLS:C4540265, + HGNC:12729, + HGNC_symbol:WARS1 ; biolink:category biolink:Gene . OMIM:191060 a owl:Class ; @@ -77132,13 +79115,14 @@ OMIM:191060 a owl:Class ; PMID:21512572, PMID:2377472, PMID:2889273 ; - oboInOwl:hasDbXref UMLS:C1420870 ; oboInOwl:hasExactSynonym "TPH1", "tph", "tryptophan hydroxylase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7166 ; - skos:exactMatch HGNC_symbol:TPH1 ; + skos:exactMatch UMLS:C1420870, + HGNC:12008, + HGNC_symbol:TPH1 ; biolink:category biolink:Gene . OMIM:191070 a owl:Class ; @@ -77150,13 +79134,14 @@ OMIM:191070 a owl:Class ; PMID:8666386 ; RO:0002525 CHR:9606chr4q32.1 ; RO:0003303 OMIM:600627 ; - oboInOwl:hasDbXref UMLS:C1420674 ; oboInOwl:hasExactSynonym "TDO2", "tryptophan 2,3-dioxygenase", "tryptophan oxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6999 ; - skos:exactMatch HGNC_symbol:TDO2 ; + skos:exactMatch UMLS:C1420674, + HGNC:11708, + HGNC_symbol:TDO2 ; biolink:category biolink:Gene . OMIM:191080 a owl:Class ; @@ -77169,7 +79154,6 @@ OMIM:191080 a owl:Class ; PMID:2203827, PMID:2677049, PMID:9920877 ; - oboInOwl:hasDbXref UMLS:C1540043 ; oboInOwl:hasExactSynonym "TPSAB1", "mast cell protease 7", "tryptase 1", @@ -77180,7 +79164,9 @@ OMIM:191080 a owl:Class ; "tryptase, beta-i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7177 ; - skos:exactMatch HGNC_symbol:TPSAB1 ; + skos:exactMatch UMLS:C1540043, + HGNC:12019, + HGNC_symbol:TPSAB1 ; biolink:category biolink:Gene . OMIM:191081 a owl:Class ; @@ -77191,7 +79177,6 @@ OMIM:191081 a owl:Class ; PMID:2187193, PMID:2203827, PMID:9920877 ; - oboInOwl:hasDbXref UMLS:C1422417 ; oboInOwl:hasExactSynonym "TPSB2", "mast cell protease 6", "tryptase 2", @@ -77202,7 +79187,9 @@ OMIM:191081 a owl:Class ; "tryptase, beta-iii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64499 ; - skos:exactMatch HGNC_symbol:TPSB2 ; + skos:exactMatch UMLS:C1422417, + HGNC:14120, + HGNC_symbol:TPSB2 ; biolink:category biolink:Gene . OMIM:191090 a owl:Class ; @@ -77308,10 +79295,6 @@ OMIM:191092 a owl:Class ; PMID:9881533 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:613254 ; - oboInOwl:hasDbXref UMLS:C0694895, - UMLS:C1847648, - UMLS:C1860707, - UMLS:C4479673 ; oboInOwl:hasExactSynonym "TSC2", "tsc complex subunit 2", "tsc2 gene", @@ -77319,7 +79302,12 @@ OMIM:191092 a owl:Class ; "tuberin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7249 ; - skos:exactMatch HGNC_symbol:TSC2 ; + skos:exactMatch UMLS:C0694895, + UMLS:C1847648, + UMLS:C1860707, + UMLS:C4479673, + HGNC:12363, + HGNC_symbol:TSC2 ; biolink:category biolink:Gene . OMIM:191110 a owl:Class ; @@ -77332,7 +79320,6 @@ OMIM:191110 a owl:Class ; PMID:6275393 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:616208 ; - oboInOwl:hasDbXref UMLS:C1421226 ; oboInOwl:hasExactSynonym "TUBA4A", "h2-alpha", "tubulin, alpha, testis-specific", @@ -77340,7 +79327,9 @@ OMIM:191110 a owl:Class ; "tubulin, alpha-4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7277 ; - skos:exactMatch HGNC_symbol:TUBA4A ; + skos:exactMatch UMLS:C1421226, + HGNC:12407, + HGNC_symbol:TUBA4A ; biolink:category biolink:Gene . OMIM:191120 a owl:Class ; @@ -77351,11 +79340,11 @@ OMIM:191120 a owl:Class ; PMID:6178107, PMID:6275393, PMID:6761444 ; - oboInOwl:hasDbXref UMLS:C1421228 ; oboInOwl:hasExactSynonym "TUBAL1", "h-alpha-44", "tubulin, alpha-like 1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1421228 ; biolink:category biolink:Gene . OMIM:191130 a owl:Class ; @@ -77386,9 +79375,6 @@ OMIM:191130 a owl:Class ; PMID:8270253 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:156610 ; - oboInOwl:hasDbXref UMLS:C1421231, - UMLS:C4014283, - UMLS:C4551592 ; oboInOwl:hasExactSynonym "TUBB", "m40", "tubb5", @@ -77396,7 +79382,11 @@ OMIM:191130 a owl:Class ; "tubulin, beta, class 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203068 ; - skos:exactMatch HGNC_symbol:TUBB ; + skos:exactMatch UMLS:C1421231, + UMLS:C4014283, + UMLS:C4551592, + HGNC:20778, + HGNC_symbol:TUBB ; biolink:category biolink:Gene . OMIM:191135 a owl:Class ; @@ -77411,14 +79401,15 @@ OMIM:191135 a owl:Class ; PMID:7584952 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:615412 ; - oboInOwl:hasDbXref UMLS:C1421235 ; oboInOwl:hasExactSynonym "TUBG1", "tubg", "tubulin, gamma-1", "tubulin-gamma complex-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7283 ; - skos:exactMatch HGNC_symbol:TUBG1 ; + skos:exactMatch UMLS:C1421235, + HGNC:12417, + HGNC_symbol:TUBG1 ; biolink:category biolink:Gene . OMIM:191150 a owl:Class ; @@ -77430,15 +79421,14 @@ OMIM:191150 a owl:Class ; PMID:4512464, PMID:579324, PMID:6895538 ; - oboInOwl:hasDbXref UMLS:C0398741 ; - oboInOwl:hasExactSynonym "tuftsin deficiency" . + oboInOwl:hasExactSynonym "tuftsin deficiency" ; + skos:exactMatch UMLS:C0398741 . OMIM:191155 a owl:Class ; rdfs:label "TM4SF1" ; IAO:0000142 PMID:1565644, PMID:19351819, PMID:8168850 ; - oboInOwl:hasDbXref UMLS:C0920268 ; oboInOwl:hasExactSynonym "TM4SF1", "membrane component, chromosome 3, surface marker 1", "transmembrane 4 50 six family member 1", @@ -77446,7 +79436,9 @@ OMIM:191155 a owl:Class ; "tumor-associated antigen l6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4071 ; - skos:exactMatch HGNC_symbol:TM4SF1 ; + skos:exactMatch UMLS:C0920268, + HGNC:11853, + HGNC_symbol:TM4SF1 ; biolink:category biolink:Gene . OMIM:191160 a owl:Class ; @@ -77564,7 +79556,6 @@ OMIM:191160 a owl:Class ; PMID:9818939, PMID:9920095 ; RO:0002525 CHR:9606chr6p21.33 ; - oboInOwl:hasDbXref UMLS:C0812246 ; oboInOwl:hasExactSynonym "TNF", "cachectin", "tnf, macrophage-derived", @@ -77573,19 +79564,22 @@ OMIM:191160 a owl:Class ; "tumor necrosis factor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7124 ; - skos:exactMatch HGNC_symbol:TNF ; + skos:exactMatch UMLS:C0812246, + HGNC:11892, + HGNC_symbol:TNF ; biolink:category biolink:Gene . OMIM:191161 a owl:Class ; rdfs:label "TNFAIP1" ; IAO:0000142 PMID:1370465 ; - oboInOwl:hasDbXref UMLS:C1420797 ; oboInOwl:hasExactSynonym "TNFAIP1", "tumor necrosis factor-alpha-induced protein 1", "tumor necrosis factor-alpha-induced protein, endothelial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7126 ; - skos:exactMatch HGNC_symbol:TNFAIP1 ; + skos:exactMatch UMLS:C1420797, + HGNC:11894, + HGNC_symbol:TNFAIP1 ; biolink:category biolink:Gene . OMIM:191163 a owl:Class ; @@ -77616,14 +79610,15 @@ OMIM:191163 a owl:Class ; PMID:26649818 ; RO:0002525 CHR:9606chr6q23.3 ; RO:0003303 OMIM:616744 ; - oboInOwl:hasDbXref UMLS:C1420799 ; oboInOwl:hasExactSynonym "TNFAIP3", "a20", "otu domain-containing protein 7c", "tumor necrosis factor-alpha-induced protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7128 ; - skos:exactMatch HGNC_symbol:TNFAIP3 ; + skos:exactMatch UMLS:C1420799, + HGNC:11896, + HGNC_symbol:TNFAIP3 ; biolink:category biolink:Gene . OMIM:191164 a owl:Class ; @@ -77634,7 +79629,6 @@ OMIM:191164 a owl:Class ; PMID:7973638, PMID:8542290, PMID:8660976 ; - oboInOwl:hasDbXref UMLS:C1414300 ; oboInOwl:hasExactSynonym "EFNA1", "efl1", "eph-related receptor tyrosine kinase ligand 1", @@ -77643,7 +79637,9 @@ OMIM:191164 a owl:Class ; "tumor necrosis factor-alpha-induced protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1942 ; - skos:exactMatch HGNC_symbol:EFNA1 ; + skos:exactMatch UMLS:C1414300, + HGNC:3221, + HGNC_symbol:EFNA1 ; biolink:category biolink:Gene . OMIM:191175 a owl:Class ; @@ -77660,7 +79656,6 @@ OMIM:191175 a owl:Class ; PMID:17936703, PMID:18411291, PMID:2377606 ; - oboInOwl:hasDbXref UMLS:C1825546 ; oboInOwl:hasExactSynonym "HSP90B1", "glucose-regulated protein, 94-kd", "heat-shock protein, 90-kd, beta, 1", @@ -77669,7 +79664,9 @@ OMIM:191175 a owl:Class ; "tumor rejection antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7184 ; - skos:exactMatch HGNC_symbol:HSP90B1 ; + skos:exactMatch UMLS:C1825546, + HGNC:12028, + HGNC_symbol:HSP90B1 ; biolink:category biolink:Gene . OMIM:191190 a owl:Class ; @@ -77726,9 +79723,6 @@ OMIM:191190 a owl:Class ; PMID:9585614 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:614810 ; - oboInOwl:hasDbXref UMLS:C1275126, - UMLS:C1363984, - UMLS:C3553728 ; oboInOwl:hasExactSynonym "TNFRSF1A", "tnfr, 55-kd", "tnfr, 60-kd", @@ -77737,7 +79731,11 @@ OMIM:191190 a owl:Class ; "tumor necrosis factor-alpha receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7132 ; - skos:exactMatch HGNC_symbol:TNFRSF1A ; + skos:exactMatch UMLS:C1275126, + UMLS:C1363984, + UMLS:C3553728, + HGNC:11916, + HGNC_symbol:TNFRSF1A ; biolink:category biolink:Gene . OMIM:191191 a owl:Class ; @@ -77765,7 +79763,6 @@ OMIM:191191 a owl:Class ; PMID:8661109, PMID:8673925, PMID:8702885 ; - oboInOwl:hasDbXref UMLS:C1363982 ; oboInOwl:hasExactSynonym "TNFRSF1B", "tnfr, 75-kd", "tnfr, 80-kd", @@ -77774,7 +79771,9 @@ OMIM:191191 a owl:Class ; "tumor necrosis factor, beta receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7133 ; - skos:exactMatch HGNC_symbol:TNFRSF1B ; + skos:exactMatch UMLS:C1363982, + HGNC:11917, + HGNC_symbol:TNFRSF1B ; biolink:category biolink:Gene . OMIM:191200 a owl:Class ; @@ -77784,19 +79783,19 @@ OMIM:191200 a owl:Class ; PMID:17701903, PMID:19336462, PMID:7396411 ; - oboInOwl:hasDbXref UMLS:C1860646 ; oboInOwl:hasExactSynonym "amusia, congenital", "dysmelodia", "tone deafness", "tune deafness" ; + skos:exactMatch UMLS:C1860646 ; biolink:category biolink:Disease . OMIM:191250 a owl:Class ; rdfs:label "twinning due to superfetation" ; IAO:0000142 PMID:1031544 ; - oboInOwl:hasDbXref UMLS:C1860645 ; oboInOwl:hasExactSynonym "superfetation twinning", - "twinning due to superfetation" . + "twinning due to superfetation" ; + skos:exactMatch UMLS:C1860645 . OMIM:191275 a owl:Class ; rdfs:label "DCT" ; @@ -77811,13 +79810,14 @@ OMIM:191275 a owl:Class ; PMID:8530099 ; RO:0002525 CHR:9606chr13q32.1 ; RO:0003303 OMIM:619165 ; - oboInOwl:hasDbXref UMLS:C1413933 ; oboInOwl:hasExactSynonym "DCT", "dopachrome tautomerase", "tyrosinase-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1638 ; - skos:exactMatch HGNC_symbol:DCT ; + skos:exactMatch UMLS:C1413933, + HGNC:2709, + HGNC_symbol:DCT ; biolink:category biolink:Gene . OMIM:191290 a owl:Class ; @@ -77865,12 +79865,13 @@ OMIM:191290 a owl:Class ; PMID:9920892 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:605407 ; - oboInOwl:hasDbXref UMLS:C1420718 ; oboInOwl:hasExactSynonym "TH", "tyrosine hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7054 ; - skos:exactMatch HGNC_symbol:TH ; + skos:exactMatch UMLS:C1420718, + HGNC:11782, + HGNC_symbol:TH ; biolink:category biolink:Gene . OMIM:191305 a owl:Class ; @@ -77886,14 +79887,15 @@ OMIM:191305 a owl:Class ; PMID:7845672 ; RO:0002525 CHR:9606chr8p23.1 ; RO:0003303 OMIM:613375 ; - oboInOwl:hasDbXref UMLS:C1332419, - UMLS:C3150618 ; oboInOwl:hasExactSynonym "BLK", "blk protooncogene, src family tyrosine kinase", "tyrosine kinase, b-lymphocyte specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:640 ; - skos:exactMatch HGNC_symbol:BLK ; + skos:exactMatch UMLS:C1332419, + UMLS:C3150618, + HGNC:1057, + HGNC_symbol:BLK ; biolink:category biolink:Gene . OMIM:191306 a owl:Class ; @@ -77943,7 +79945,6 @@ OMIM:191306 a owl:Class ; PMID:9689032 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:602089 ; - oboInOwl:hasDbXref UMLS:C1334306 ; oboInOwl:hasExactSynonym "KDR", "flk1, mouse, homolog of", "kinase insert domain receptor", @@ -77952,7 +79953,9 @@ OMIM:191306 a owl:Class ; "vascular endothelial growth factor receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3791 ; - skos:exactMatch HGNC_symbol:KDR ; + skos:exactMatch UMLS:C1334306, + HGNC:6307, + HGNC_symbol:KDR ; biolink:category biolink:Gene . OMIM:191309 a owl:Class ; @@ -77972,14 +79975,15 @@ OMIM:191311 a owl:Class ; PMID:8818447 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:618175 ; - oboInOwl:hasDbXref UMLS:C1333207 ; oboInOwl:hasExactSynonym "DDR2", "discoidin domain receptor family, member 2", "neurotrophic tyrosine kinase receptor-related 3", "tyrosine kinase receptor related to neurotrophic trk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4921 ; - skos:exactMatch HGNC_symbol:DDR2 ; + skos:exactMatch UMLS:C1333207, + HGNC:2731, + HGNC_symbol:DDR2 ; biolink:category biolink:Gene . OMIM:191316 a owl:Class ; @@ -77998,8 +80002,6 @@ OMIM:191316 a owl:Class ; PMID:7809137, PMID:9195161, PMID:9462753 ; - oboInOwl:hasDbXref UMLS:C1334910, - UMLS:C3275265 ; oboInOwl:hasExactSynonym "NTRK3", "neurotrophic tyrosine kinase, receptor, iia 3", "neurotrophin 3 receptor", @@ -78007,7 +80009,10 @@ OMIM:191316 a owl:Class ; "tyrosine kinase receptor c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4916 ; - skos:exactMatch HGNC_symbol:NTRK3 ; + skos:exactMatch UMLS:C1334910, + UMLS:C3275265, + HGNC:8033, + HGNC_symbol:NTRK3 ; biolink:category biolink:Gene . OMIM:191317 a owl:Class ; @@ -78017,13 +80022,14 @@ OMIM:191317 a owl:Class ; PMID:16809543, PMID:8136831, PMID:8660980 ; - oboInOwl:hasDbXref UMLS:C1421254 ; oboInOwl:hasExactSynonym "U2AF1", "u2 small nuclear RNA auxiliary factor 1", "u2 small nuclear ribonucleoprotein auxiliary factor, 35-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7307 ; - skos:exactMatch HGNC_symbol:U2AF1 ; + skos:exactMatch UMLS:C1421254, + HGNC:12453, + HGNC_symbol:U2AF1 ; biolink:category biolink:Gene . OMIM:191318 a owl:Class ; @@ -78035,13 +80041,14 @@ OMIM:191318 a owl:Class ; PMID:1824937, PMID:19574390, PMID:21753750 ; - oboInOwl:hasDbXref UMLS:C1427952 ; oboInOwl:hasExactSynonym "U2AF2", "u2 small nuclear RNA auxiliary factor 2", "u2 small nuclear ribonucleoprotein auxiliary factor, 65-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11338 ; - skos:exactMatch HGNC_symbol:U2AF2 ; + skos:exactMatch UMLS:C1427952, + HGNC:23156, + HGNC_symbol:U2AF2 ; biolink:category biolink:Gene . OMIM:191320 a owl:Class ; @@ -78052,13 +80059,14 @@ OMIM:191325 a owl:Class ; rdfs:label "UBE7" ; IAO:0000142 PMID:1311632, PMID:8327486 ; - oboInOwl:hasDbXref UMLS:C1421270 ; oboInOwl:hasExactSynonym "UBE7", "ubiquitin-activating enzyme 7", "ubiquitin-activating enzyme e1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7318 ; - skos:exactMatch HGNC_symbol:UBA7 ; + skos:exactMatch UMLS:C1421270, + HGNC:12471, + HGNC_symbol:UBA7 ; biolink:category biolink:Gene . OMIM:191327 a owl:Class ; @@ -78070,14 +80078,15 @@ OMIM:191327 a owl:Class ; PMID:8088805 ; RO:0002525 CHR:9606chr19q12 ; RO:0003303 OMIM:618775 ; - oboInOwl:hasDbXref UMLS:C1421371, - UMLS:C5394051 ; oboInOwl:hasExactSynonym "UQCRFS1", "rieske iron-sulfur protein", "ubiquinol-cytochrome c reductase, rieske iron-sulfur" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7386 ; - skos:exactMatch HGNC_symbol:UQCRFS1 ; + skos:exactMatch UMLS:C1421371, + UMLS:C5394051, + HGNC:12587, + HGNC_symbol:UQCRFS1 ; biolink:category biolink:Gene . OMIM:191328 a owl:Class ; @@ -78085,13 +80094,14 @@ OMIM:191328 a owl:Class ; IAO:0000142 PMID:8407948 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:619279 ; - oboInOwl:hasDbXref UMLS:C1442767 ; oboInOwl:hasExactSynonym "UQCRC1", "cytochrome bc1", "ubiquinol-cytochrome c reductase core protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7384 ; - skos:exactMatch HGNC_symbol:UQCRC1 ; + skos:exactMatch UMLS:C1442767, + HGNC:12585, + HGNC_symbol:UQCRC1 ; biolink:category biolink:Gene . OMIM:191329 a owl:Class ; @@ -78102,12 +80112,13 @@ OMIM:191329 a owl:Class ; PMID:8288258 ; RO:0002525 CHR:9606chr16p12.2 ; RO:0003303 OMIM:615160 ; - oboInOwl:hasDbXref UMLS:C1442768 ; oboInOwl:hasExactSynonym "UQCRC2", "ubiquinol-cytochrome c reductase core protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7385 ; - skos:exactMatch HGNC_symbol:UQCRC2 ; + skos:exactMatch UMLS:C1442768, + HGNC:12586, + HGNC_symbol:UQCRC2 ; biolink:category biolink:Gene . OMIM:191330 a owl:Class ; @@ -78119,27 +80130,29 @@ OMIM:191330 a owl:Class ; PMID:3056408 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:615158 ; - oboInOwl:hasDbXref UMLS:C1421368 ; oboInOwl:hasExactSynonym "UQCRB", "ubiquinol-cytochrome c reductase-binding protein", "ubiquinone-binding protein", "uqpc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7381 ; - skos:exactMatch HGNC_symbol:UQCRB ; + skos:exactMatch UMLS:C1421368, + HGNC:12582, + HGNC_symbol:UQCRB ; biolink:category biolink:Gene . OMIM:191340 a owl:Class ; rdfs:label "UBC" ; IAO:0000142 PMID:1315303, PMID:2564731 ; - oboInOwl:hasDbXref UMLS:C1421267 ; oboInOwl:hasExactSynonym "UBC", "polyubiquitin", "ubiquitin c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7316 ; - skos:exactMatch HGNC_symbol:UBC ; + skos:exactMatch UMLS:C1421267, + HGNC:12468, + HGNC_symbol:UBC ; biolink:category biolink:Gene . OMIM:191342 a owl:Class ; @@ -78173,17 +80186,18 @@ OMIM:191342 a owl:Class ; PMID:9774100 ; RO:0002525 CHR:9606chr4p13 ; RO:0003303 OMIM:613643 ; - oboInOwl:hasDbXref UMLS:C1421309, - UMLS:C3150899, - UMLS:C3809665, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "UCHL1", "pgp9.5", "ubiquitin c-terminal hydrolase, neuron-specific", "ubiquitin carboxyl-terminal esterase l1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7345 ; - skos:exactMatch HGNC_symbol:UCHL1 ; + skos:exactMatch UMLS:C1421309, + UMLS:C3150899, + UMLS:C3809665, + UMLS:C4015968, + HGNC:12513, + HGNC_symbol:UCHL1 ; biolink:category biolink:Gene . OMIM:191344 a owl:Class ; @@ -78205,7 +80219,6 @@ OMIM:191350 a owl:Class ; PMID:9451016 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:614750 ; - oboInOwl:hasDbXref UMLS:C1414133 ; oboInOwl:hasExactSynonym "DPAGT1", "dolichyl-phosphate n-acetylglucosamine phosphotransferase", "dpagt2", @@ -78213,42 +80226,44 @@ OMIM:191350 a owl:Class ; "udp-glcnac:dolichyl-phosphate n-acetylglucosaminephosphotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1798 ; - skos:exactMatch HGNC_symbol:DPAGT1 ; + skos:exactMatch UMLS:C1414133, + HGNC:2995, + HGNC_symbol:DPAGT1 ; biolink:category biolink:Gene . OMIM:191400 a owl:Class ; rdfs:label "ulna and fibula, hypoplasia of" ; IAO:0000142 PMID:5626375 ; - oboInOwl:hasDbXref UMLS:C1860616 ; oboInOwl:hasExactSynonym "mesomelic dwarfism of hypoplastic ulna and fibula iia", "reinhardt-pfeiffer mesomelic dysplasia", - "ulna and fibula, hypoplasia of" . + "ulna and fibula, hypoplasia of" ; + skos:exactMatch UMLS:C1860616 . OMIM:191420 a owl:Class ; rdfs:label "ulna metaphyseal dysplasia syndrome" ; IAO:0000142 PMID:12707959, PMID:3732330, PMID:4447311 ; - oboInOwl:hasDbXref UMLS:C1860615 ; oboInOwl:hasExactSynonym "metaphyseal chondrodysplasia, rosenberg iia", - "ulna metaphyseal dysplasia syndrome" . + "ulna metaphyseal dysplasia syndrome" ; + skos:exactMatch UMLS:C1860615 . OMIM:191440 a owl:Class ; rdfs:label "ulnar hypoplasia" ; IAO:0000142 PMID:16283892, PMID:3342548 ; - oboInOwl:hasDbXref UMLS:C1860614 ; oboInOwl:hasExactSynonym "ulnar hypoplasia", "upper limb mesomelic dysplasia" ; + skos:exactMatch UMLS:C1860614 ; biolink:category biolink:Disease . OMIM:191482 a owl:Class ; rdfs:label "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" ; IAO:0000142 PMID:3654205, PMID:8279493 ; - oboInOwl:hasDbXref UMLS:C1860605 ; oboInOwl:hasExactSynonym "bork syndrome", - "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" . + "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" ; + skos:exactMatch UMLS:C1860605 . OMIM:191500 a owl:Class ; rdfs:label "undritz anomaly" ; @@ -78256,9 +80271,9 @@ OMIM:191500 a owl:Class ; PMID:13592217, PMID:13720073, PMID:345785 ; - oboInOwl:hasDbXref UMLS:C1860604 ; oboInOwl:hasExactSynonym "hypersegmentation of nuclei of polymorphonuclear leukocytes", "undritz anomaly" ; + skos:exactMatch UMLS:C1860604 ; biolink:category biolink:Disease . OMIM:191510 a owl:Class ; @@ -78269,7 +80284,6 @@ OMIM:191510 a owl:Class ; PMID:2204029, PMID:3278301, PMID:9383053 ; - oboInOwl:hasDbXref UMLS:C1824805 ; oboInOwl:hasExactSynonym "CSDE1", "cold-shock domain-containing e1, rna-binding", "d1s155e", @@ -78277,15 +80291,17 @@ OMIM:191510 a owl:Class ; "unr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7812 ; - skos:exactMatch HGNC_symbol:CSDE1 ; + skos:exactMatch UMLS:C1824805, + HGNC:29905, + HGNC_symbol:CSDE1 ; biolink:category biolink:Gene . OMIM:191520 a owl:Class ; rdfs:label "upington disease" ; IAO:0000142 PMID:5316541 ; - oboInOwl:hasDbXref UMLS:C1860596 ; oboInOwl:hasExactSynonym "perthes-like hip disease, enchondromata, and ecchondromata", "upington disease" ; + skos:exactMatch UMLS:C1860596 ; biolink:category biolink:Disease . OMIM:191523 a owl:Class ; @@ -78311,14 +80327,15 @@ OMIM:191523 a owl:Class ; PMID:9890958 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:602491 ; - oboInOwl:hasDbXref UMLS:C1421376 ; oboInOwl:hasExactSynonym "USF1", "major late transcription factor", "upstream stimulatory factor 1", "upstream transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7391 ; - skos:exactMatch HGNC_symbol:USF1 ; + skos:exactMatch UMLS:C1421376, + HGNC:12593, + HGNC_symbol:USF1 ; biolink:category biolink:Gene . OMIM:191525 a owl:Class ; @@ -78341,7 +80358,6 @@ OMIM:191525 a owl:Class ; PMID:9490791 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:608106 ; - oboInOwl:hasDbXref UMLS:C1421361 ; oboInOwl:hasExactSynonym "DNA glycosylase, uracil", "UNG", "udg1", @@ -78353,44 +80369,46 @@ OMIM:191525 a owl:Class ; "uracil-dna glycosylase, nuclear isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7374 ; - skos:exactMatch HGNC_symbol:UNG ; + skos:exactMatch UMLS:C1421361, + HGNC:12572, + HGNC_symbol:UNG ; biolink:category biolink:Gene . OMIM:191530 a owl:Class ; rdfs:label "urate-binding globulin, decrease 1n" ; IAO:0000142 PMID:4172458 ; - oboInOwl:hasDbXref UMLS:C1860587 ; oboInOwl:hasExactSynonym "urate-binding globulin, decrease 1n" ; + skos:exactMatch UMLS:C1860587 ; biolink:category biolink:Disease . OMIM:191550 a owl:Class ; rdfs:label "ureter, bifid or double" ; IAO:0000142 PMID:4834020 ; - oboInOwl:hasDbXref UMLS:C1860586 ; oboInOwl:hasExactSynonym "ureter, bifid or double" ; + skos:exactMatch UMLS:C1860586 ; biolink:category biolink:Disease . OMIM:191600 a owl:Class ; rdfs:label "ureter, cancer of" ; IAO:0000142 PMID:5923294 ; - oboInOwl:hasDbXref UMLS:C0153619 ; - oboInOwl:hasExactSynonym "ureter, cancer of" . + oboInOwl:hasExactSynonym "ureter, cancer of" ; + skos:exactMatch UMLS:C0153619 . OMIM:191650 a owl:Class ; rdfs:label "ureterocele" ; IAO:0000142 PMID:442384, PMID:6057859, PMID:7411701 ; - oboInOwl:hasDbXref UMLS:C0041960 ; - oboInOwl:hasExactSynonym "ureterocele" . + oboInOwl:hasExactSynonym "ureterocele" ; + skos:exactMatch UMLS:C0041960 . OMIM:191700 a owl:Class ; rdfs:label "urolithiasis, uric acid, autosomal dominant" ; IAO:0000142 PMID:13998019, PMID:14036165 ; - oboInOwl:hasDbXref UMLS:C2674049 ; oboInOwl:hasExactSynonym "nephrolithiasis, uric acid, autosomal dominant", - "urolithiasis, uric acid, autosomal dominant" . + "urolithiasis, uric acid, autosomal dominant" ; + skos:exactMatch UMLS:C2674049 . OMIM:191710 a owl:Class ; rdfs:label "CMPK1" ; @@ -78406,7 +80424,6 @@ OMIM:191710 a owl:Class ; PMID:396131, PMID:4138532, PMID:561097 ; - oboInOwl:hasDbXref UMLS:C1824761 ; oboInOwl:hasExactSynonym "CMPK1", "cytidine monophosphate (ump-cmp) kinase 1, cytosolic", "cytidine monophosphate kinase", @@ -78417,7 +80434,9 @@ OMIM:191710 a owl:Class ; "uridine monophosphate/cytidine monophosphate kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51727 ; - skos:exactMatch HGNC_symbol:CMPK1 ; + skos:exactMatch UMLS:C1824761, + HGNC:18170, + HGNC_symbol:CMPK1 ; biolink:category biolink:Gene . OMIM:191730 a owl:Class ; @@ -78425,12 +80444,13 @@ OMIM:191730 a owl:Class ; IAO:0000142 PMID:12077348, PMID:19028666, PMID:7488099 ; - oboInOwl:hasDbXref UMLS:C1421363 ; oboInOwl:hasExactSynonym "UPP1", "uridine phosphorylase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7378 ; - skos:exactMatch HGNC_symbol:UPP1 ; + skos:exactMatch UMLS:C1421363, + HGNC:12576, + HGNC_symbol:UPP1 ; biolink:category biolink:Gene . OMIM:191741 a owl:Class ; @@ -78449,11 +80469,11 @@ OMIM:191800 a owl:Class ; rdfs:label "bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut" ; IAO:0000142 PMID:10318955, PMID:31708116 ; - oboInOwl:hasDbXref UMLS:C0403645, - UMLS:C5231389 ; oboInOwl:hasExactSynonym "BAIPRCK", "bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut", "urinary bladder, atony of" ; + skos:exactMatch UMLS:C0403645, + UMLS:C5231389 ; biolink:category biolink:Disease . OMIM:191810 a owl:Class ; @@ -78484,14 +80504,15 @@ OMIM:191840 a owl:Class ; PMID:6364130 ; RO:0002525 CHR:9606chr10q22.2 ; RO:0003303 OMIM:104300 ; - oboInOwl:hasDbXref UMLS:C1335224 ; oboInOwl:hasExactSynonym "PLAU", "plasminogen activator, urinary", "upa", "urokinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5328 ; - skos:exactMatch HGNC_symbol:PLAU ; + skos:exactMatch UMLS:C1335224, + HGNC:9052, + HGNC_symbol:PLAU ; biolink:category biolink:Gene . OMIM:191845 a owl:Class ; @@ -78530,30 +80551,31 @@ OMIM:191845 a owl:Class ; PMID:9686952 ; RO:0002525 CHR:9606chr16p12.3 ; RO:0003303 OMIM:162000 ; - oboInOwl:hasDbXref UMLS:C1421351, - UMLS:C1835934, - UMLS:C1859040, - UMLS:C4551496 ; oboInOwl:hasExactSynonym "UMOD", "tamm-horsfall glycoprotein", "uromodulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7369 ; - skos:exactMatch HGNC_symbol:UMOD ; + skos:exactMatch UMLS:C1421351, + UMLS:C1835934, + UMLS:C1859040, + UMLS:C4551496, + HGNC:12559, + HGNC_symbol:UMOD ; biolink:category biolink:Gene . OMIM:191850 a owl:Class ; rdfs:label "urticaria, aquagenic" ; IAO:0000142 PMID:14172902, PMID:38152 ; - oboInOwl:hasDbXref UMLS:C0263334 ; - oboInOwl:hasExactSynonym "urticaria, aquagenic" . + oboInOwl:hasExactSynonym "urticaria, aquagenic" ; + skos:exactMatch UMLS:C0263334 . OMIM:191950 a owl:Class ; rdfs:label "urticaria, familial localized heat" ; IAO:0000142 PMID:4105776 ; - oboInOwl:hasDbXref UMLS:C1860551 ; - oboInOwl:hasExactSynonym "urticaria, familial localized heat" . + oboInOwl:hasExactSynonym "urticaria, familial localized heat" ; + skos:exactMatch UMLS:C1860551 . OMIM:192000 a owl:Class ; rdfs:label "uterine anomalies" ; @@ -78562,28 +80584,27 @@ OMIM:192000 a owl:Class ; PMID:20320870, PMID:4841581, PMID:5997716 ; - oboInOwl:hasDbXref UMLS:C0266383 ; - oboInOwl:hasExactSynonym "uterine anomalies" . + oboInOwl:hasExactSynonym "uterine anomalies" ; + skos:exactMatch UMLS:C0266383 . OMIM:192050 a owl:Class ; rdfs:label "uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis" ; IAO:0000142 PMID:934555 ; - oboInOwl:hasDbXref UMLS:C1860549 ; - oboInOwl:hasExactSynonym "uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis" . + oboInOwl:hasExactSynonym "uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis" ; + skos:exactMatch UMLS:C1860549 . OMIM:192070 a owl:Class ; owl:deprecated true . OMIM:192100 a owl:Class ; rdfs:label "uvula, bifid" ; - oboInOwl:hasDbXref UMLS:C4551488 ; oboInOwl:hasExactSynonym "uvula, bifid", - "uvula, cleft" . + "uvula, cleft" ; + skos:exactMatch UMLS:C4551488 . OMIM:192130 a owl:Class ; rdfs:label "ATP6V0A1" ; IAO:0000142 PMID:7774924 ; - oboInOwl:hasDbXref UMLS:C1412685 ; oboInOwl:hasExactSynonym "ATP6V0A1", "atp6n1", "atpase, h+ transporting, lysosomal, noncatalytic accessory protein 1a", @@ -78591,7 +80612,9 @@ OMIM:192130 a owl:Class ; "vacuolar proton pump, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:535 ; - skos:exactMatch HGNC_symbol:ATP6V0A1 ; + skos:exactMatch UMLS:C1412685, + HGNC:865, + HGNC_symbol:ATP6V0A1 ; biolink:category biolink:Gene . OMIM:192132 a owl:Class ; @@ -78606,15 +80629,16 @@ OMIM:192132 a owl:Class ; PMID:9916796 ; RO:0002525 CHR:9606chr2p13.3 ; RO:0003303 OMIM:267300 ; - oboInOwl:hasDbXref UMLS:C1412673, - UMLS:C4016429 ; oboInOwl:hasExactSynonym "ATP6V1B1", "atp6b1", "atpase, h+ transporting, lysosomal, 56/58-kd, v1 subunit b, isoform 1", "vacuolar proton pump, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:525 ; - skos:exactMatch HGNC_symbol:ATP6V1B1 ; + skos:exactMatch UMLS:C1412673, + UMLS:C4016429, + HGNC:853, + HGNC_symbol:ATP6V1B1 ; biolink:category biolink:Gene . OMIM:192225 a owl:Class ; @@ -78632,12 +80656,13 @@ OMIM:192225 a owl:Class ; PMID:30455424, PMID:7523515, PMID:8614825 ; - oboInOwl:hasDbXref UMLS:C1421435 ; oboInOwl:hasExactSynonym "VCAM1", "vascular cell adhesion molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7412 ; - skos:exactMatch HGNC_symbol:VCAM1 ; + skos:exactMatch UMLS:C1421435, + HGNC:12663, + HGNC_symbol:VCAM1 ; biolink:category biolink:Gene . OMIM:192240 a owl:Class ; @@ -78741,26 +80766,27 @@ OMIM:192240 a owl:Class ; PMID:9844628 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:603933 ; - oboInOwl:hasDbXref UMLS:C1823619 ; oboInOwl:hasExactSynonym "VEGFA", "vascular endothelial growth factor a", "vegf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7422 ; - skos:exactMatch HGNC_symbol:VEGFA ; + skos:exactMatch UMLS:C1823619, + HGNC:12680, + HGNC_symbol:VEGFA ; biolink:category biolink:Gene . OMIM:192300 a owl:Class ; rdfs:label "vascular helix of umbilical cord" ; IAO:0000142 PMID:6006800 ; - oboInOwl:hasDbXref UMLS:C1860520 ; - oboInOwl:hasExactSynonym "vascular helix of umbilical cord" . + oboInOwl:hasExactSynonym "vascular helix of umbilical cord" ; + skos:exactMatch UMLS:C1860520 . OMIM:192310 a owl:Class ; rdfs:label "vasculitis, lymphocytic, nodular" ; IAO:0000142 PMID:4507318 ; - oboInOwl:hasDbXref UMLS:C1860519 ; - oboInOwl:hasExactSynonym "vasculitis, lymphocytic, nodular" . + oboInOwl:hasExactSynonym "vasculitis, lymphocytic, nodular" ; + skos:exactMatch UMLS:C1860519 . OMIM:192315 a owl:Class ; rdfs:label "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations" ; @@ -78777,12 +80803,12 @@ OMIM:192315 a owl:Class ; PMID:32887784, PMID:9371916, PMID:9549508 ; - oboInOwl:hasDbXref UMLS:C1860518 ; oboInOwl:hasExactSynonym "RVCLS", "cerebroretinal vasculopathy, hereditary", "retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena", "vasculopathy, retinal, with cerebral leukodystrophy, formerly", "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations" ; + skos:exactMatch UMLS:C1860518 ; biolink:category biolink:Disease . OMIM:192320 a owl:Class ; @@ -78800,14 +80826,15 @@ OMIM:192320 a owl:Class ; PMID:3202886, PMID:4035357, PMID:6571696 ; - oboInOwl:hasDbXref UMLS:C0042395, - UMLS:C1366646 ; oboInOwl:hasExactSynonym "VIP", "phm27", "vasoactive intestinal peptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7432 ; - skos:exactMatch HGNC_symbol:VIP ; + skos:exactMatch UMLS:C0042395, + UMLS:C1366646, + HGNC:12693, + HGNC_symbol:VIP ; biolink:category biolink:Gene . OMIM:192321 a owl:Class ; @@ -78816,7 +80843,6 @@ OMIM:192321 a owl:Class ; PMID:7708752, PMID:8179610, PMID:8390245 ; - oboInOwl:hasDbXref UMLS:C1336936 ; oboInOwl:hasExactSynonym "VIPR1", "hvr1", "pacap receptor, iia 2", @@ -78825,7 +80851,9 @@ OMIM:192321 a owl:Class ; "vip receptor, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7433 ; - skos:exactMatch HGNC_symbol:VIPR1 ; + skos:exactMatch UMLS:C1336936, + HGNC:12694, + HGNC_symbol:VIPR1 ; biolink:category biolink:Gene . OMIM:192340 a owl:Class ; @@ -78883,7 +80911,6 @@ OMIM:192340 a owl:Class ; PMID:9814475 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:125700 ; - oboInOwl:hasDbXref UMLS:C1366535 ; oboInOwl:hasExactSynonym "AVP", "antidiuretic hormone", "arginine vasopressin", @@ -78892,22 +80919,24 @@ OMIM:192340 a owl:Class ; "vasopressin-neurophysin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:551 ; - skos:exactMatch HGNC_symbol:AVP ; + skos:exactMatch UMLS:C1366535, + HGNC:894, + HGNC_symbol:AVP ; biolink:category biolink:Gene . OMIM:192400 a owl:Class ; rdfs:label "veins, pattern of, on anterior thorax" ; IAO:0000142 PMID:14942709 ; - oboInOwl:hasDbXref UMLS:C1860490 ; - oboInOwl:hasExactSynonym "veins, pattern of, on anterior thorax" . + oboInOwl:hasExactSynonym "veins, pattern of, on anterior thorax" ; + skos:exactMatch UMLS:C1860490 . OMIM:192445 a owl:Class ; rdfs:label "ventricular extrasystoles with syncope, perodactyly, and robin sequence" ; IAO:0000142 PMID:1376967, PMID:18388777 ; - oboInOwl:hasDbXref UMLS:C1860471, - ORPHA:3201 ; - oboInOwl:hasExactSynonym "ventricular extrasystoles with syncope, perodactyly, and robin sequence" . + oboInOwl:hasExactSynonym "ventricular extrasystoles with syncope, perodactyly, and robin sequence" ; + skos:exactMatch UMLS:C1860471, + ORPHA:3201 . OMIM:192450 a owl:Class ; IAO:0100001 OMIM:603829 ; @@ -78916,20 +80945,20 @@ OMIM:192450 a owl:Class ; OMIM:192700 a owl:Class ; rdfs:label "venular insufficiency, systemic" ; IAO:0000142 PMID:14117628 ; - oboInOwl:hasDbXref UMLS:C1860465 ; - oboInOwl:hasExactSynonym "venular insufficiency, systemic" . + oboInOwl:hasExactSynonym "venular insufficiency, systemic" ; + skos:exactMatch UMLS:C1860465 . OMIM:192800 a owl:Class ; rdfs:label "vertebral fusion, posterior lumbosacral, with blepharoptosis" ; IAO:0000142 PMID:5443339 ; - oboInOwl:hasDbXref UMLS:C1860464 ; - oboInOwl:hasExactSynonym "vertebral fusion, posterior lumbosacral, with blepharoptosis" . + oboInOwl:hasExactSynonym "vertebral fusion, posterior lumbosacral, with blepharoptosis" ; + skos:exactMatch UMLS:C1860464 . OMIM:192900 a owl:Class ; rdfs:label "vertebral hypoplasia with lumbar kyphosis" ; IAO:0000142 PMID:5762711 ; - oboInOwl:hasDbXref UMLS:C1860463 ; oboInOwl:hasExactSynonym "vertebral hypoplasia with lumbar kyphosis" ; + skos:exactMatch UMLS:C1860463 ; biolink:category biolink:Disease . OMIM:192968 a owl:Class ; @@ -78941,14 +80970,15 @@ OMIM:192968 a owl:Class ; PMID:17603494, PMID:31068696, PMID:8428973 ; - oboInOwl:hasDbXref UMLS:C1442490 ; oboInOwl:hasExactSynonym "ITGA1", "cd49a", "integrin, alpha-1", "very late activation protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3672 ; - skos:exactMatch HGNC_symbol:ITGA1 ; + skos:exactMatch UMLS:C1442490, + HGNC:6134, + HGNC_symbol:ITGA1 ; biolink:category biolink:Gene . OMIM:192972 a owl:Class ; @@ -78977,7 +81007,6 @@ OMIM:192974 a owl:Class ; PMID:7901236, PMID:9058714, PMID:9746778 ; - oboInOwl:hasDbXref UMLS:C1416484 ; oboInOwl:hasExactSynonym "ITGA2", "cd49b", "glycoprotein ia", @@ -78987,7 +81016,9 @@ OMIM:192974 a owl:Class ; "vla2 receptor, alpha-2 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3673 ; - skos:exactMatch HGNC_symbol:ITGA2 ; + skos:exactMatch UMLS:C1416484, + HGNC:6137, + HGNC_symbol:ITGA2 ; biolink:category biolink:Gene . OMIM:192977 a owl:Class ; @@ -79015,12 +81046,13 @@ OMIM:192977 a owl:Class ; PMID:8294473 ; RO:0002525 CHR:9606chr9p24.2 ; RO:0003303 OMIM:224050 ; - oboInOwl:hasDbXref UMLS:C1421455 ; oboInOwl:hasExactSynonym "VLDLR", "very low density lipoprotein receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7436 ; - skos:exactMatch HGNC_symbol:VLDLR ; + skos:exactMatch UMLS:C1421455, + HGNC:12698, + HGNC_symbol:VLDLR ; biolink:category biolink:Gene . OMIM:193001 a owl:Class ; @@ -79038,7 +81070,6 @@ OMIM:193001 a owl:Class ; PMID:9427251 ; RO:0002525 CHR:9606chr10q25.3 ; RO:0003303 OMIM:618049 ; - oboInOwl:hasDbXref UMLS:C1420115 ; oboInOwl:hasExactSynonym "SLC18A2", "solute carrier family 18 (vesicular monoamine), member 2", "synaptic vesicle amine transporter, brain", @@ -79047,7 +81078,9 @@ OMIM:193001 a owl:Class ; "vesicular monoamine transporter 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6571 ; - skos:exactMatch HGNC_symbol:SLC18A2 ; + skos:exactMatch UMLS:C1420115, + HGNC:10935, + HGNC_symbol:SLC18A2 ; biolink:category biolink:Gene . OMIM:193002 a owl:Class ; @@ -79057,7 +81090,6 @@ OMIM:193002 a owl:Class ; PMID:7905859, PMID:8643547, PMID:8661734 ; - oboInOwl:hasDbXref UMLS:C1420114 ; oboInOwl:hasExactSynonym "SLC18A1", "adrenal chromaffin granule amine transporter", "solute carrier family 18 (vesicular monoamine), member 1", @@ -79065,15 +81097,17 @@ OMIM:193002 a owl:Class ; "vesicular monoamine transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6570 ; - skos:exactMatch HGNC_symbol:SLC18A1 ; + skos:exactMatch UMLS:C1420114, + HGNC:10934, + HGNC_symbol:SLC18A1 ; biolink:category biolink:Gene . OMIM:193005 a owl:Class ; rdfs:label "vestibulocochlear dysfunction, progressive" ; IAO:0000142 PMID:2001181, PMID:3260482 ; - oboInOwl:hasDbXref UMLS:C2931176 ; - oboInOwl:hasExactSynonym "vestibulocochlear dysfunction, progressive" . + oboInOwl:hasExactSynonym "vestibulocochlear dysfunction, progressive" ; + skos:exactMatch UMLS:C2931176 . OMIM:193010 a owl:Class ; IAO:0100001 OMIM:112266 ; @@ -79086,13 +81120,14 @@ OMIM:193040 a owl:Class ; PMID:1981051, PMID:2892781, PMID:3453110 ; - oboInOwl:hasDbXref UMLS:C1421449 ; oboInOwl:hasExactSynonym "VIL1", "villin", "villin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7429 ; - skos:exactMatch HGNC_symbol:VIL1 ; + skos:exactMatch UMLS:C1421449, + HGNC:12690, + HGNC_symbol:VIL1 ; biolink:category biolink:Gene . OMIM:193050 a owl:Class ; @@ -79122,15 +81157,16 @@ OMIM:193060 a owl:Class ; PMID:7954832 ; RO:0002525 CHR:9606chr10p13 ; RO:0003303 OMIM:116300 ; - oboInOwl:hasDbXref UMLS:C1421451, - UMLS:C3805411, - UMLS:C4479666, - UMLS:C4479667 ; oboInOwl:hasExactSynonym "VIM", "vimentin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7431 ; - skos:exactMatch HGNC_symbol:VIM ; + skos:exactMatch UMLS:C1421451, + UMLS:C3805411, + UMLS:C4479666, + UMLS:C4479667, + HGNC:12692, + HGNC_symbol:VIM ; biolink:category biolink:Gene . OMIM:193065 a owl:Class ; @@ -79153,13 +81189,14 @@ OMIM:193065 a owl:Class ; PMID:9486805 ; RO:0002525 CHR:9606chr10q22.2 ; RO:0003303 OMIM:613255 ; - oboInOwl:hasDbXref UMLS:C1336929 ; oboInOwl:hasExactSynonym "VCL", "metavinculin", "vinculin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7414 ; - skos:exactMatch HGNC_symbol:VCL ; + skos:exactMatch UMLS:C1336929, + HGNC:12665, + HGNC_symbol:VCL ; biolink:category biolink:Gene . OMIM:193067 a owl:Class ; @@ -79185,9 +81222,6 @@ OMIM:193067 a owl:Class ; PMID:8516324 ; RO:0002525 CHR:9606chr11q24.3 ; RO:0003303 OMIM:617443 ; - oboInOwl:hasDbXref UMLS:C0808900, - UMLS:C1860424, - UMLS:C1860425 ; oboInOwl:hasExactSynonym "FLI1", "ewing sarcoma breakpoint region 2", "fli1 protooncogene, ets transcription factor", @@ -79196,14 +81230,18 @@ OMIM:193067 a owl:Class ; "viral integration region fli1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2313 ; - skos:exactMatch HGNC_symbol:FLI1 ; + skos:exactMatch UMLS:C0808900, + UMLS:C1860424, + UMLS:C1860425, + HGNC:3749, + HGNC_symbol:FLI1 ; biolink:category biolink:Gene . OMIM:193070 a owl:Class ; rdfs:label "virus rd114 RNA complementarity" ; IAO:0000142 PMID:4119221 ; - oboInOwl:hasDbXref UMLS:C1860423 ; - oboInOwl:hasExactSynonym "virus rd114 RNA complementarity" . + oboInOwl:hasExactSynonym "virus rd114 RNA complementarity" ; + skos:exactMatch UMLS:C1860423 . OMIM:193100 a owl:Class ; rdfs:label "hypophosphatemic rickets, autosomal dominant" ; @@ -79218,13 +81256,13 @@ OMIM:193100 a owl:Class ; PMID:9024275, PMID:9106524, PMID:9389727 ; - oboInOwl:hasDbXref UMLS:C0342642, - ORPHA:89937 ; oboInOwl:hasExactSynonym "ADHR", "hypophosphatemia, autosomal dominant", "hypophosphatemic rickets, autosomal dominant", "vitamin d-resistant rickets, autosomal dominant" ; rdfs:subClassOf OMIMPS:193100 ; + skos:exactMatch UMLS:C0342642, + ORPHA:89937 ; biolink:category biolink:Disease . OMIM:193190 a owl:Class ; @@ -79234,7 +81272,6 @@ OMIM:193190 a owl:Class ; PMID:2454751, PMID:2462942, PMID:3004934 ; - oboInOwl:hasDbXref UMLS:C1336937 ; oboInOwl:hasExactSynonym "VTN", "complement s-protein", "serum spreading factor", @@ -79242,7 +81279,9 @@ OMIM:193190 a owl:Class ; "vitronectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7448 ; - skos:exactMatch HGNC_symbol:VTN ; + skos:exactMatch UMLS:C1336937, + HGNC:12724, + HGNC_symbol:VTN ; biolink:category biolink:Gene . OMIM:193210 a owl:Class ; @@ -79269,21 +81308,22 @@ OMIM:193210 a owl:Class ; PMID:30550785, PMID:7678549, PMID:9827803 ; - oboInOwl:hasDbXref UMLS:C1416494 ; oboInOwl:hasExactSynonym "ITGAV", "cd51", "integrin, alpha-v", "vitronectin receptor, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3685 ; - skos:exactMatch HGNC_symbol:ITGAV ; + skos:exactMatch UMLS:C1416494, + HGNC:6150, + HGNC_symbol:ITGAV ; biolink:category biolink:Gene . OMIM:193240 a owl:Class ; rdfs:label "vocal cord paralysis and ptosis" ; IAO:0000142 PMID:6633110 ; - oboInOwl:hasDbXref UMLS:C1860403 ; - oboInOwl:hasExactSynonym "vocal cord paralysis and ptosis" . + oboInOwl:hasExactSynonym "vocal cord paralysis and ptosis" ; + skos:exactMatch UMLS:C1860403 . OMIM:193245 a owl:Class ; rdfs:label "VDAC2" ; @@ -79292,12 +81332,13 @@ OMIM:193245 a owl:Class ; PMID:7517385, PMID:8420959, PMID:9733094 ; - oboInOwl:hasDbXref UMLS:C1336931 ; oboInOwl:hasExactSynonym "VDAC2", "voltage-dependent anion channel 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7417 ; - skos:exactMatch HGNC_symbol:VDAC2 ; + skos:exactMatch UMLS:C1336931, + HGNC:12672, + HGNC_symbol:VDAC2 ; biolink:category biolink:Gene . OMIM:193250 a owl:Class ; @@ -79306,9 +81347,9 @@ OMIM:193250 a owl:Class ; PMID:3135012, PMID:5051163, PMID:7246615 ; - oboInOwl:hasDbXref UMLS:C0221210 ; oboInOwl:hasExactSynonym "intestinal malrotation, familial", "volvulus of midgut" ; + skos:exactMatch UMLS:C0221210 ; biolink:category biolink:Disease . OMIM:193290 a owl:Class ; @@ -79415,17 +81456,17 @@ OMIM:193400 a owl:Class ; PMID:9253800, PMID:9689113, PMID:9989502 ; - oboInOwl:hasDbXref UMLS:C1264039 ; oboInOwl:hasExactSynonym "VWD1", "von willebrand disease, iia 1", "vwd, iia 1" ; + skos:exactMatch UMLS:C1264039 ; biolink:category biolink:Disease . OMIM:193450 a owl:Class ; rdfs:label "vulvovaginitis, allergic seminal" ; IAO:0000142 PMID:984106 ; - oboInOwl:hasDbXref UMLS:C1860357 ; - oboInOwl:hasExactSynonym "vulvovaginitis, allergic seminal" . + oboInOwl:hasExactSynonym "vulvovaginitis, allergic seminal" ; + skos:exactMatch UMLS:C1860357 . OMIM:193500 a owl:Class ; rdfs:label "waardenburg syndrome, iia 1" ; @@ -79481,13 +81522,13 @@ OMIM:193500 a owl:Class ; PMID:9279758, PMID:9500554, PMID:9654197 ; - oboInOwl:hasDbXref UMLS:C1847800, - ORPHA:3440, - ORPHA:894 ; oboInOwl:hasExactSynonym "WS1", "waardenburg syndrome with dystopia canthorum", "waardenburg syndrome, iia 1" ; rdfs:subClassOf OMIMPS:193500 ; + skos:exactMatch UMLS:C1847800, + ORPHA:3440, + ORPHA:894 ; biolink:category biolink:Disease . OMIM:193525 a owl:Class ; @@ -79501,7 +81542,6 @@ OMIM:193525 a owl:Class ; PMID:8348613, PMID:8428596, PMID:8432534 ; - oboInOwl:hasDbXref UMLS:C1421500 ; oboInOwl:hasExactSynonym "WEE1", "wee1 g2 checkpoint kinase", "wee1 tyrosine kinase", @@ -79509,7 +81549,9 @@ OMIM:193525 a owl:Class ; "wee1, somatic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7465 ; - skos:exactMatch HGNC_symbol:WEE1 ; + skos:exactMatch UMLS:C1421500, + HGNC:12761, + HGNC_symbol:WEE1 ; biolink:category biolink:Gene . OMIM:193675 a owl:Class ; @@ -79555,7 +81597,6 @@ OMIM:193700 a owl:Class ; PMID:8882790, PMID:8923935, PMID:9138511 ; - oboInOwl:hasDbXref UMLS:C0265224 ; oboInOwl:hasExactSynonym "DA2A", "arthrogryposis, distal, iia 2a", "craniocarpotarsal dysplasia", @@ -79563,13 +81604,14 @@ OMIM:193700 a owl:Class ; "freeman-sheldon syndrome", "whistling face-windmill vane hand syndrome" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C0265224 ; biolink:category biolink:Disease . OMIM:194000 a owl:Class ; rdfs:label "widow's peak" ; IAO:0000142 PMID:4128017 ; - oboInOwl:hasDbXref UMLS:C1853486 ; - oboInOwl:hasExactSynonym "widow's peak" . + oboInOwl:hasExactSynonym "widow's peak" ; + skos:exactMatch UMLS:C1853486 . OMIM:194050 a owl:Class ; rdfs:label "williams-beuren syndrome" ; @@ -79721,12 +81763,12 @@ OMIM:194050 a owl:Class ; PMID:9860302, PMID:9880214 ; RO:0002525 CHR:9606chr7q11.23 ; - oboInOwl:hasDbXref UMLS:C0175702, - ORPHA:904 ; oboInOwl:hasExactSynonym "WBS", "chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb", "williams syndrome", "williams-beuren syndrome" ; + skos:exactMatch UMLS:C0175702, + ORPHA:904 ; biolink:category biolink:Disease . OMIM:194080 a owl:Class ; @@ -79749,12 +81791,12 @@ OMIM:194080 a owl:Class ; PMID:7645607, PMID:8071974, PMID:9607189 ; - oboInOwl:hasDbXref UMLS:C0950121 ; oboInOwl:hasExactSynonym "DDS", "denys-drash syndrome", "drash syndrome", "nephropathy, wilms tumor, and genital anomalies", "wilms tumor and pseudo- or true hermaphroditism" ; + skos:exactMatch UMLS:C0950121 ; biolink:category biolink:Disease . OMIM:194100 a owl:Class ; @@ -79764,14 +81806,14 @@ OMIM:194100 a owl:Class ; OMIM:194320 a owl:Class ; rdfs:label "woronets trait" ; IAO:0000142 PMID:7378595 ; - oboInOwl:hasDbXref UMLS:C1860237 ; - oboInOwl:hasExactSynonym "woronets trait" . + oboInOwl:hasExactSynonym "woronets trait" ; + skos:exactMatch UMLS:C1860237 . OMIM:194350 a owl:Class ; rdfs:label "wt limb-blood syndrome" ; IAO:0000142 PMID:21032369 ; - oboInOwl:hasDbXref UMLS:C1327917 ; oboInOwl:hasExactSynonym "wt limb-blood syndrome" ; + skos:exactMatch UMLS:C1327917 ; biolink:category biolink:Disease . OMIM:194355 a owl:Class ; @@ -79809,13 +81851,14 @@ OMIM:194355 a owl:Class ; PMID:30971818 ; RO:0002525 CHR:9606chr22q12.1 ; RO:0003303 OMIM:612371 ; - oboInOwl:hasDbXref UMLS:C1421527 ; oboInOwl:hasExactSynonym "XBP1", "x box-binding protein 1", "x box-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7494 ; - skos:exactMatch HGNC_symbol:XBP1 ; + skos:exactMatch UMLS:C1421527, + HGNC:12801, + HGNC_symbol:XBP1 ; biolink:category biolink:Gene . OMIM:194360 a owl:Class ; @@ -79835,13 +81878,14 @@ OMIM:194360 a owl:Class ; PMID:8432525 ; RO:0002525 CHR:9606chr19q13.31 ; RO:0003303 OMIM:617633 ; - oboInOwl:hasDbXref UMLS:C1366475 ; oboInOwl:hasExactSynonym "XRCC1", "x-ray repair cross complementing 1", "x-ray repair, complementing defective, 1n chinese hamster, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7515 ; - skos:exactMatch HGNC_symbol:XRCC1 ; + skos:exactMatch UMLS:C1366475, + HGNC:12828, + HGNC_symbol:XRCC1 ; biolink:category biolink:Gene . OMIM:194363 a owl:Class ; @@ -79865,13 +81909,14 @@ OMIM:194363 a owl:Class ; PMID:9875844 ; RO:0002525 CHR:9606chr5q14.2 ; RO:0003303 OMIM:616541 ; - oboInOwl:hasDbXref UMLS:C1337033 ; oboInOwl:hasExactSynonym "XRCC4", "x-ray repair cross complementing 4", "x-ray repair, complementing defective, 1n chinese hamster, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7518 ; - skos:exactMatch HGNC_symbol:XRCC4 ; + skos:exactMatch UMLS:C1337033, + HGNC:12831, + HGNC_symbol:XRCC4 ; biolink:category biolink:Gene . OMIM:194364 a owl:Class ; @@ -79890,7 +81935,6 @@ OMIM:194364 a owl:Class ; PMID:8088837, PMID:8586433, PMID:8954777 ; - oboInOwl:hasDbXref UMLS:C1337034 ; oboInOwl:hasExactSynonym "XRCC5", "ku antigen, 80-kd subunit", "ku86", @@ -79898,22 +81942,24 @@ OMIM:194364 a owl:Class ; "x-ray repair, complementing defective, 1n chinese hamster, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7520 ; - skos:exactMatch HGNC_symbol:XRCC5 ; + skos:exactMatch UMLS:C1337034, + HGNC:12833, + HGNC_symbol:XRCC5 ; biolink:category biolink:Gene . OMIM:194400 a owl:Class ; rdfs:label "xeroderma pigmentosum, autosomal dominant, mild" ; IAO:0000142 PMID:3950938, PMID:7471819 ; - oboInOwl:hasDbXref UMLS:C1860231 ; - oboInOwl:hasExactSynonym "xeroderma pigmentosum, autosomal dominant, mild" . + oboInOwl:hasExactSynonym "xeroderma pigmentosum, autosomal dominant, mild" ; + skos:exactMatch UMLS:C1860231 . OMIM:194450 a owl:Class ; rdfs:label "yeast factor" ; IAO:0000142 PMID:13834157, PMID:4467782 ; - oboInOwl:hasDbXref UMLS:C1860230 ; - oboInOwl:hasExactSynonym "yeast factor" . + oboInOwl:hasExactSynonym "yeast factor" ; + skos:exactMatch UMLS:C1860230 . OMIM:194460 a owl:Class ; rdfs:label "AZGP1" ; @@ -79926,13 +81972,14 @@ OMIM:194460 a owl:Class ; PMID:8162703, PMID:8241150, PMID:8307568 ; - oboInOwl:hasDbXref UMLS:C1412706 ; oboInOwl:hasExactSynonym "AZGP1", "alpha-2-glycoprotein, zinc", "zinc-alpha-2-glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:563 ; - skos:exactMatch HGNC_symbol:AZGP1 ; + skos:exactMatch UMLS:C1412706, + HGNC:910, + HGNC_symbol:AZGP1 ; biolink:category biolink:Gene . OMIM:194470 a owl:Class ; @@ -79944,55 +81991,58 @@ OMIM:194470 a owl:Class ; PMID:6815290, PMID:9262226, PMID:941021 ; - oboInOwl:hasDbXref UMLS:C1860228, - UMLS:C1860229 ; oboInOwl:hasExactSynonym "albumin binding of zinc, elevated", "hyperzincemia and hypercalprotectinemia", "hyperzincemia, familial dysalbuminemic", "zinc, elevated plasma" ; + skos:exactMatch UMLS:C1860228, + UMLS:C1860229 ; biolink:category biolink:Disease . OMIM:194480 a owl:Class ; rdfs:label "ZFP3" ; IAO:0000142 PMID:2565878 ; - oboInOwl:hasDbXref UMLS:C1421570 ; oboInOwl:hasExactSynonym "ZFP3", "zfp3 ring finger protein", "zinc finger protein 3, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124961 ; - skos:exactMatch HGNC_symbol:ZFP3 ; + skos:exactMatch UMLS:C1421570, + HGNC:12861, + HGNC_symbol:ZFP3 ; biolink:category biolink:Gene . OMIM:194490 a owl:Class ; rdfs:label "zinc finger protein 1" ; IAO:0000142 PMID:1981050, PMID:2565878 ; - oboInOwl:hasDbXref UMLS:C1421587 ; oboInOwl:hasExactSynonym "ZNF1", - "zinc finger protein 1" . + "zinc finger protein 1" ; + skos:exactMatch UMLS:C1421587 . OMIM:194500 a owl:Class ; rdfs:label "ZNF2" ; IAO:0000142 PMID:10575230, PMID:4040853 ; - oboInOwl:hasDbXref UMLS:C1421688 ; oboInOwl:hasExactSynonym "ZNF2", "zinc finger protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7549 ; - skos:exactMatch HGNC_symbol:ZNF2 ; + skos:exactMatch UMLS:C1421688, + HGNC:12991, + HGNC_symbol:ZNF2 ; biolink:category biolink:Gene . OMIM:194510 a owl:Class ; rdfs:label "ZNF3" ; IAO:0000142 PMID:3380682 ; - oboInOwl:hasDbXref UMLS:C1421780 ; oboInOwl:hasExactSynonym "ZNF3", "zinc finger protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7551 ; - skos:exactMatch HGNC_symbol:ZNF3 ; + skos:exactMatch UMLS:C1421780, + HGNC:13089, + HGNC_symbol:ZNF3 ; biolink:category biolink:Gene . OMIM:194520 a owl:Class ; @@ -80002,51 +82052,55 @@ OMIM:194522 a owl:Class ; rdfs:label "ZNF33B" ; IAO:0000142 PMID:1639412, PMID:8464732 ; - oboInOwl:hasDbXref UMLS:C1421788 ; oboInOwl:hasExactSynonym "ZNF33B", "zinc finger protein 11b", "zinc finger protein 33b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7582 ; - skos:exactMatch HGNC_symbol:ZNF33B ; + skos:exactMatch UMLS:C1421788, + HGNC:13097, + HGNC_symbol:ZNF33B ; biolink:category biolink:Gene . OMIM:194524 a owl:Class ; rdfs:label "ZNF18" ; IAO:0000142 PMID:2014798, PMID:8262519 ; - oboInOwl:hasDbXref UMLS:C1421668 ; oboInOwl:hasExactSynonym "ZNF18", "kox11", "zinc finger protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7566 ; - skos:exactMatch HGNC_symbol:ZNF18 ; + skos:exactMatch UMLS:C1421668, + HGNC:12969, + HGNC_symbol:ZNF18 ; biolink:category biolink:Gene . OMIM:194525 a owl:Class ; rdfs:label "ZNF19" ; IAO:0000142 PMID:1946370 ; - oboInOwl:hasDbXref UMLS:C1421679 ; oboInOwl:hasExactSynonym "ZNF19", "kox12", "zinc finger protein 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7567 ; - skos:exactMatch HGNC_symbol:ZNF19 ; + skos:exactMatch UMLS:C1421679, + HGNC:12981, + HGNC_symbol:ZNF19 ; biolink:category biolink:Gene . OMIM:194526 a owl:Class ; rdfs:label "ZNF34" ; IAO:0000142 PMID:2014798, PMID:8104631 ; - oboInOwl:hasDbXref UMLS:C1421789 ; oboInOwl:hasExactSynonym "ZNF34", "kox32", "zinc finger protein 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80778 ; - skos:exactMatch HGNC_symbol:ZNF34 ; + skos:exactMatch UMLS:C1421789, + HGNC:13098, + HGNC_symbol:ZNF34 ; biolink:category biolink:Gene . OMIM:194527 a owl:Class ; @@ -80054,38 +82108,41 @@ OMIM:194527 a owl:Class ; IAO:0000142 PMID:12127974, PMID:8262519, PMID:8500793 ; - oboInOwl:hasDbXref UMLS:C1421719 ; oboInOwl:hasExactSynonym "ZNF23", "zinc finger protein 23", "zinc finger protein 359" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7571 ; - skos:exactMatch HGNC_symbol:ZNF23 ; + skos:exactMatch UMLS:C1421719, + HGNC:13023, + HGNC_symbol:ZNF23 ; biolink:category biolink:Gene . OMIM:194528 a owl:Class ; rdfs:label "ZNF25" ; IAO:0000142 PMID:1639412 ; - oboInOwl:hasDbXref UMLS:C1421738 ; oboInOwl:hasExactSynonym "ZNF25", "kox19", "zinc finger protein 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219749 ; - skos:exactMatch HGNC_symbol:ZNF25 ; + skos:exactMatch UMLS:C1421738, + HGNC:13043, + HGNC_symbol:ZNF25 ; biolink:category biolink:Gene . OMIM:194529 a owl:Class ; rdfs:label "ZNF22" ; IAO:0000142 PMID:1639412, PMID:1946370 ; - oboInOwl:hasDbXref UMLS:C1421708 ; oboInOwl:hasExactSynonym "ZNF22", "kox15", "zinc finger protein 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7570 ; - skos:exactMatch HGNC_symbol:ZNF22 ; + skos:exactMatch UMLS:C1421708, + HGNC:13012, + HGNC_symbol:ZNF22 ; biolink:category biolink:Gene . OMIM:194530 a owl:Class ; @@ -80096,24 +82153,26 @@ OMIM:194531 a owl:Class ; IAO:0000142 PMID:1946370, PMID:2106481, PMID:8478004 ; - oboInOwl:hasDbXref UMLS:C1421823 ; oboInOwl:hasExactSynonym "ZNF7", "kox4", "zinc finger protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7553 ; - skos:exactMatch HGNC_symbol:ZNF7 ; + skos:exactMatch UMLS:C1421823, + HGNC:13139, + HGNC_symbol:ZNF7 ; biolink:category biolink:Gene . OMIM:194532 a owl:Class ; rdfs:label "ZNF8" ; IAO:0000142 PMID:2106481 ; - oboInOwl:hasDbXref UMLS:C1421838 ; oboInOwl:hasExactSynonym "ZNF8", "zinc finger protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7554 ; - skos:exactMatch HGNC_symbol:ZNF8 ; + skos:exactMatch UMLS:C1421838, + HGNC:13154, + HGNC_symbol:ZNF8 ; biolink:category biolink:Gene . OMIM:194533 a owl:Class ; @@ -80122,41 +82181,44 @@ OMIM:194533 a owl:Class ; PMID:1740334, PMID:2108922, PMID:7814019 ; - oboInOwl:hasDbXref UMLS:C1421790 ; oboInOwl:hasExactSynonym "ZNF35", "zinc finger protein 35", "zinc finger protein hf.10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7584 ; - skos:exactMatch HGNC_symbol:ZNF35 ; + skos:exactMatch UMLS:C1421790, + HGNC:13099, + HGNC_symbol:ZNF35 ; biolink:category biolink:Gene . OMIM:194534 a owl:Class ; rdfs:label "ZNF24" ; IAO:0000142 PMID:10585455, PMID:2004757 ; - oboInOwl:hasDbXref UMLS:C1421727 ; oboInOwl:hasExactSynonym "ZNF24", "kox17", "zinc finger protein 24", "znf191" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7572 ; - skos:exactMatch HGNC_symbol:ZNF24 ; + skos:exactMatch UMLS:C1421727, + HGNC:13032, + HGNC_symbol:ZNF24 ; biolink:category biolink:Gene . OMIM:194535 a owl:Class ; rdfs:label "ZNF29P" ; IAO:0000142 PMID:1981050, PMID:2004757 ; - oboInOwl:hasDbXref UMLS:C1860227 ; oboInOwl:hasExactSynonym "ZNF29P", "kox26", "zinc finger protein 29", "zinc finger protein 29, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7577 ; - skos:exactMatch HGNC_symbol:ZNF29P ; + skos:exactMatch UMLS:C1860227, + HGNC:13080, + HGNC_symbol:ZNF29P ; biolink:category biolink:Gene . OMIM:194536 a owl:Class ; @@ -80165,57 +82227,60 @@ OMIM:194536 a owl:Class ; PMID:2884726, PMID:3096579, PMID:8262519 ; - oboInOwl:hasDbXref UMLS:C1421610 ; oboInOwl:hasExactSynonym "ZNF12", "kox3", "zinc finger protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7559 ; - skos:exactMatch HGNC_symbol:ZNF12 ; + skos:exactMatch UMLS:C1421610, + HGNC:12902, + HGNC_symbol:ZNF12 ; biolink:category biolink:Gene . OMIM:194537 a owl:Class ; rdfs:label "ZNF26" ; IAO:0000142 PMID:2014798, PMID:2026422 ; - oboInOwl:hasDbXref UMLS:C1421747 ; oboInOwl:hasExactSynonym "ZNF26", "kox20", "zinc finger protein 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7574 ; - skos:exactMatch HGNC_symbol:ZNF26 ; + skos:exactMatch UMLS:C1421747, + HGNC:13053, + HGNC_symbol:ZNF26 ; biolink:category biolink:Gene . OMIM:194538 a owl:Class ; rdfs:label "ZNF10" ; IAO:0000142 PMID:2014798, PMID:8262519 ; - oboInOwl:hasDbXref UMLS:C1421588 ; oboInOwl:hasExactSynonym "ZNF10", "kox1", "zinc finger protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7556 ; - skos:exactMatch HGNC_symbol:ZNF10 ; + skos:exactMatch UMLS:C1421588, + HGNC:12879, + HGNC_symbol:ZNF10 ; biolink:category biolink:Gene . OMIM:194539 a owl:Class ; rdfs:label "ZNF32" ; IAO:0000142 PMID:8500793 ; - oboInOwl:hasDbXref UMLS:C1421786 ; oboInOwl:hasExactSynonym "ZNF32", "zinc finger protein 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7580 ; - skos:exactMatch HGNC_symbol:ZNF32 ; + skos:exactMatch UMLS:C1421786, + HGNC:13095, + HGNC_symbol:ZNF32 ; biolink:category biolink:Gene . OMIM:194540 a owl:Class ; rdfs:label "HIVEP1" ; IAO:0000142 PMID:2037300, PMID:9417921 ; - oboInOwl:hasDbXref UMLS:C1415552 ; oboInOwl:hasExactSynonym "HIVEP1", "human immunodeficiency virus iia 1 enhancer-binding protein 1", "major histocompatibility complex-binding protein 1", @@ -80224,116 +82289,127 @@ OMIM:194540 a owl:Class ; "zinc finger protein 40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3096 ; - skos:exactMatch HGNC_symbol:HIVEP1 ; + skos:exactMatch UMLS:C1415552, + HGNC:4920, + HGNC_symbol:HIVEP1 ; biolink:category biolink:Gene . OMIM:194541 a owl:Class ; rdfs:label "ZBTB25" ; IAO:0000142 PMID:2027750, PMID:20410506 ; - oboInOwl:hasDbXref UMLS:C1823903 ; oboInOwl:hasExactSynonym "ZBTB25", "zinc finger protein 46, formerly", "zinc finger protein kup", "zinc finger- and btb domain-containing protein 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7597 ; - skos:exactMatch HGNC_symbol:ZBTB25 ; + skos:exactMatch UMLS:C1823903, + HGNC:13112, + HGNC_symbol:ZBTB25 ; biolink:category biolink:Gene . OMIM:194542 a owl:Class ; rdfs:label "ZNF44" ; IAO:0000142 PMID:1946370 ; - oboInOwl:hasDbXref UMLS:C1421800 ; oboInOwl:hasExactSynonym "ZNF44", "kox7", "zinc finger protein 44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51710 ; - skos:exactMatch HGNC_symbol:ZNF44 ; + skos:exactMatch UMLS:C1421800, + HGNC:13110, + HGNC_symbol:ZNF44 ; biolink:category biolink:Gene . OMIM:194543 a owl:Class ; rdfs:label "ZNF69" ; IAO:0000142 PMID:1639391 ; - oboInOwl:hasDbXref UMLS:C1421822 ; oboInOwl:hasExactSynonym "ZNF69", "zinc finger protein 69" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7620 ; - skos:exactMatch HGNC_symbol:ZNF69 ; + skos:exactMatch UMLS:C1421822, + HGNC:13138, + HGNC_symbol:ZNF69 ; biolink:category biolink:Gene . OMIM:194544 a owl:Class ; rdfs:label "ZNF70" ; IAO:0000142 PMID:1639391, PMID:27353377 ; - oboInOwl:hasDbXref UMLS:C1421824 ; oboInOwl:hasExactSynonym "ZNF70", "zinc finger protein 70" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7621 ; - skos:exactMatch HGNC_symbol:ZNF70 ; + skos:exactMatch UMLS:C1421824, + HGNC:13140, + HGNC_symbol:ZNF70 ; biolink:category biolink:Gene . OMIM:194545 a owl:Class ; rdfs:label "ZNF71" ; IAO:0000142 PMID:11426589, PMID:1639391 ; - oboInOwl:hasDbXref UMLS:C1421825 ; oboInOwl:hasExactSynonym "ZNF71", "endothelial zinc finger protein induced by tnf-alpha", "zinc finger protein 71" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58491 ; - skos:exactMatch HGNC_symbol:ZNF71 ; + skos:exactMatch UMLS:C1421825, + HGNC:13141, + HGNC_symbol:ZNF71 ; biolink:category biolink:Gene . OMIM:194546 a owl:Class ; rdfs:label "ZNF72" ; IAO:0000142 PMID:1639391 ; - oboInOwl:hasDbXref UMLS:C1421826 ; oboInOwl:hasExactSynonym "ZNF72", "zinc finger protein 72" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100287084 ; - skos:exactMatch HGNC_symbol:ZNF72P ; + skos:exactMatch UMLS:C1421826, + HGNC:13142, + HGNC_symbol:ZNF72P ; biolink:category biolink:Gene . OMIM:194547 a owl:Class ; rdfs:label "ZNF73" ; IAO:0000142 PMID:1639391 ; - oboInOwl:hasDbXref UMLS:C1421827 ; oboInOwl:hasExactSynonym "ZNF73", "zinc finger protein 73" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105379427 ; - skos:exactMatch HGNC_symbol:ZNF73P ; + skos:exactMatch UMLS:C1421827, + HGNC:13143, + HGNC_symbol:ZNF73P ; biolink:category biolink:Gene . OMIM:194548 a owl:Class ; rdfs:label "ZNF74" ; IAO:0000142 PMID:1639391, PMID:8268910 ; - oboInOwl:hasDbXref UMLS:C1421828 ; oboInOwl:hasExactSynonym "ZNF74", "zinc finger protein 74" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7625 ; - skos:exactMatch HGNC_symbol:ZNF74 ; + skos:exactMatch UMLS:C1421828, + HGNC:13144, + HGNC_symbol:ZNF74 ; biolink:category biolink:Gene . OMIM:194549 a owl:Class ; rdfs:label "ZNF76" ; IAO:0000142 PMID:1427894, PMID:9705341 ; - oboInOwl:hasDbXref UMLS:C1421833 ; oboInOwl:hasExactSynonym "ZNF76", "d6s229e", "zinc finger protein 76" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7629 ; - skos:exactMatch HGNC_symbol:ZNF76 ; + skos:exactMatch UMLS:C1421833, + HGNC:13149, + HGNC_symbol:ZNF76 ; biolink:category biolink:Gene . OMIM:194550 a owl:Class ; @@ -80343,7 +82419,6 @@ OMIM:194550 a owl:Class ; PMID:1860835, PMID:29048625, PMID:7579328 ; - oboInOwl:hasDbXref UMLS:C1826337 ; oboInOwl:hasExactSynonym "MZF1", "myeloid zinc finger 1", "mzf1b", @@ -80351,127 +82426,138 @@ OMIM:194550 a owl:Class ; "zinc finger, myeloid, retinoic acid-responsive" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7593 ; - skos:exactMatch HGNC_symbol:MZF1 ; + skos:exactMatch UMLS:C1826337, + HGNC:13108, + HGNC_symbol:MZF1 ; biolink:category biolink:Gene . OMIM:194551 a owl:Class ; rdfs:label "ZNF77" ; IAO:0000142 PMID:8478004 ; - oboInOwl:hasDbXref UMLS:C1421834 ; oboInOwl:hasExactSynonym "ZNF77", "zinc finger protein 77" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58492 ; - skos:exactMatch HGNC_symbol:ZNF77 ; + skos:exactMatch UMLS:C1421834, + HGNC:13150, + HGNC_symbol:ZNF77 ; biolink:category biolink:Gene . OMIM:194552 a owl:Class ; rdfs:label "ZNF79" ; IAO:0000142 PMID:8478004 ; - oboInOwl:hasDbXref UMLS:C1421837 ; oboInOwl:hasExactSynonym "ZNF79", "zinc finger protein 79" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7633 ; - skos:exactMatch HGNC_symbol:ZNF79 ; + skos:exactMatch UMLS:C1421837, + HGNC:13153, + HGNC_symbol:ZNF79 ; biolink:category biolink:Gene . OMIM:194553 a owl:Class ; rdfs:label "ZNF80" ; IAO:0000142 PMID:8478004 ; - oboInOwl:hasDbXref UMLS:C1421839 ; oboInOwl:hasExactSynonym "ZNF80", "zinc finger protein 80" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7634 ; - skos:exactMatch HGNC_symbol:ZNF80 ; + skos:exactMatch UMLS:C1421839, + HGNC:13155, + HGNC_symbol:ZNF80 ; biolink:category biolink:Gene . OMIM:194556 a owl:Class ; rdfs:label "ZNF14" ; IAO:0000142 PMID:8262519 ; - oboInOwl:hasDbXref UMLS:C1421631 ; oboInOwl:hasExactSynonym "ZNF14", "kox6", "zinc finger protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7561 ; - skos:exactMatch HGNC_symbol:ZNF14 ; + skos:exactMatch UMLS:C1421631, + HGNC:12924, + HGNC_symbol:ZNF14 ; biolink:category biolink:Gene . OMIM:194557 a owl:Class ; rdfs:label "ZNF20" ; IAO:0000142 PMID:8262519 ; - oboInOwl:hasDbXref UMLS:C1421689 ; oboInOwl:hasExactSynonym "ZNF20", "kox13", "zinc finger protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7568 ; - skos:exactMatch HGNC_symbol:ZNF20 ; + skos:exactMatch UMLS:C1421689, + HGNC:12992, + HGNC_symbol:ZNF20 ; biolink:category biolink:Gene . OMIM:194558 a owl:Class ; rdfs:label "ZNF83" ; IAO:0000142 PMID:4040853, PMID:8088807 ; - oboInOwl:hasDbXref UMLS:C1421841 ; oboInOwl:hasExactSynonym "ZNF83", "zinc finger protein 83" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55769 ; - skos:exactMatch HGNC_symbol:ZNF83 ; + skos:exactMatch UMLS:C1421841, + HGNC:13158, + HGNC_symbol:ZNF83 ; biolink:category biolink:Gene . OMIM:194624 a owl:Class ; rdfs:label "ZNF117" ; IAO:0000142 PMID:1427907 ; - oboInOwl:hasDbXref UMLS:C1421605 ; oboInOwl:hasExactSynonym "ZNF117", "zinc finger protein 117" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51351 ; - skos:exactMatch HGNC_symbol:ZNF117 ; + skos:exactMatch UMLS:C1421605, + HGNC:12897, + HGNC_symbol:ZNF117 ; biolink:category biolink:Gene . OMIM:194628 a owl:Class ; rdfs:label "ZNF121" ; IAO:0000142 PMID:8468057 ; - oboInOwl:hasDbXref UMLS:C1421612 ; oboInOwl:hasExactSynonym "ZNF121", "zinc finger protein 121" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7675 ; - skos:exactMatch HGNC_symbol:ZNF121 ; + skos:exactMatch UMLS:C1421612, + HGNC:12904, + HGNC_symbol:ZNF121 ; biolink:category biolink:Gene . OMIM:194631 a owl:Class ; rdfs:label "ZNF124" ; IAO:0000142 PMID:7916577 ; - oboInOwl:hasDbXref UMLS:C1421615 ; oboInOwl:hasExactSynonym "ZNF124", "zinc finger protein 124" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7678 ; - skos:exactMatch HGNC_symbol:ZNF124 ; + skos:exactMatch UMLS:C1421615, + HGNC:12907, + HGNC_symbol:ZNF124 ; biolink:category biolink:Gene . OMIM:194632 a owl:Class ; rdfs:label "ZNF125" ; IAO:0000142 PMID:1339395 ; - oboInOwl:hasDbXref UMLS:C1421616 ; oboInOwl:hasExactSynonym "ZNF125", "zinc finger protein 125" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1421616 ; biolink:category biolink:Gene . OMIM:194633 a owl:Class ; rdfs:label "ZNF126" ; IAO:0000142 PMID:1339395 ; - oboInOwl:hasDbXref UMLS:C1421617 ; oboInOwl:hasExactSynonym "ZNF126", "zinc finger protein 126" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1421617 ; biolink:category biolink:Gene . OMIM:194648 a owl:Class ; @@ -80480,12 +82566,13 @@ OMIM:194648 a owl:Class ; PMID:8268908 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:615226 ; - oboInOwl:hasDbXref UMLS:C1421633 ; oboInOwl:hasExactSynonym "ZNF141", "zinc finger protein 141" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7700 ; - skos:exactMatch HGNC_symbol:ZNF141 ; + skos:exactMatch UMLS:C1421633, + HGNC:12926, + HGNC_symbol:ZNF141 ; biolink:category biolink:Gene . OMIM:195000 a owl:Class ; @@ -80499,13 +82586,14 @@ OMIM:195000 a owl:Class ; PMID:30810869 ; RO:0002525 CHR:9606chr11q12.2 ; RO:0003303 OMIM:615774 ; - oboInOwl:hasDbXref UMLS:C1421864, - UMLS:C4014291 ; oboInOwl:hasExactSynonym "ZP1", "zona pellucida glycoprotein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22917 ; - skos:exactMatch HGNC_symbol:ZP1 ; + skos:exactMatch UMLS:C1421864, + UMLS:C4014291, + HGNC:13187, + HGNC_symbol:ZP1 ; biolink:category biolink:Gene . OMIM:195002 a owl:Class ; @@ -80549,13 +82637,13 @@ OMIM:200100 a owl:Class ; PMID:848999, PMID:9671739, PMID:9686820 ; - oboInOwl:hasDbXref UMLS:C0000744 ; oboInOwl:hasExactSynonym "ABL", "abetalipoproteinemia", "acanthocytosis", "bassen-kornzweig syndrome", "microsomal triglyceride transfer protein deficiency", "mtp deficiency" ; + skos:exactMatch UMLS:C0000744 ; biolink:category biolink:Disease . OMIM:200110 a owl:Class ; @@ -80575,30 +82663,30 @@ OMIM:200110 a owl:Class ; PMID:8834257, PMID:913905, PMID:9674915 ; - oboInOwl:hasDbXref UMLS:C1860224 ; oboInOwl:hasExactSynonym "AMS", "ablepharon-macrostomia syndrome" ; + skos:exactMatch UMLS:C1860224 ; biolink:category biolink:Disease . OMIM:200130 a owl:Class ; rdfs:label "absent eyebrows and eyelashes with mental retardation" ; IAO:0000142 PMID:4418946 ; - oboInOwl:hasDbXref UMLS:C0796125 ; oboInOwl:hasExactSynonym "absent eyebrows and eyelashes with mental retardation", - "pseudoprogeria syndrome" . + "pseudoprogeria syndrome" ; + skos:exactMatch UMLS:C0796125 . OMIM:200170 a owl:Class ; rdfs:label "acanthosis nigricans with muscle cramps and acral enlargement" ; IAO:0000142 PMID:6997748 ; - oboInOwl:hasDbXref UMLS:C1860215 ; - oboInOwl:hasExactSynonym "acanthosis nigricans with muscle cramps and acral enlargement" . + oboInOwl:hasExactSynonym "acanthosis nigricans with muscle cramps and acral enlargement" ; + skos:exactMatch UMLS:C1860215 . OMIM:200300 a owl:Class ; rdfs:label "acetophenetidin sensitivity" ; IAO:0000142 PMID:5263690, PMID:6015912 ; - oboInOwl:hasDbXref UMLS:C1860214 ; - oboInOwl:hasExactSynonym "acetophenetidin sensitivity" . + oboInOwl:hasExactSynonym "acetophenetidin sensitivity" ; + skos:exactMatch UMLS:C1860214 . OMIM:200350 a owl:Class ; rdfs:label "ACACA" ; @@ -80621,14 +82709,15 @@ OMIM:200350 a owl:Class ; PMID:8876158 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:613933 ; - oboInOwl:hasDbXref UMLS:C1412104 ; oboInOwl:hasExactSynonym "ACACA", "acca", "acetyl-coa carboxylase 1", "acetyl-coa carboxylase-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:31 ; - skos:exactMatch HGNC_symbol:ACACA ; + skos:exactMatch UMLS:C1412104, + HGNC:84, + HGNC_symbol:ACACA ; biolink:category biolink:Gene . OMIM:200400 a owl:Class ; @@ -80648,8 +82737,8 @@ OMIM:200400 a owl:Class ; PMID:609292, PMID:7053188, PMID:7200858 ; - oboInOwl:hasDbXref UMLS:C1860213 ; oboInOwl:hasExactSynonym "achalasia, familial esophageal" ; + skos:exactMatch UMLS:C1860213 ; biolink:category biolink:Disease . OMIM:200440 a owl:Class ; @@ -80663,8 +82752,8 @@ OMIM:200450 a owl:Class ; PMID:3048841, PMID:5435950, PMID:7211947 ; - oboInOwl:hasDbXref UMLS:C1860212 ; - oboInOwl:hasExactSynonym "achalasia-microcephaly syndrome" . + oboInOwl:hasExactSynonym "achalasia-microcephaly syndrome" ; + skos:exactMatch UMLS:C1860212 . OMIM:200500 a owl:Class ; rdfs:label "acheiropody" ; @@ -80680,11 +82769,11 @@ OMIM:200500 a owl:Class ; PMID:6660253, PMID:7018242, PMID:7286983 ; - oboInOwl:hasDbXref UMLS:C0265559 ; oboInOwl:hasExactSynonym "ACHP", "acheiropodia", "acheiropody", "acheiropody, brazilian iia" ; + skos:exactMatch UMLS:C0265559 ; biolink:category biolink:Disease . OMIM:200600 a owl:Class ; @@ -80704,11 +82793,11 @@ OMIM:200600 a owl:Class ; PMID:7460382, PMID:894421, PMID:8950678 ; - oboInOwl:hasDbXref UMLS:C0265273 ; oboInOwl:hasExactSynonym "ACG1A", "achondrogenesis, iia 1a", "achondrogenesis, houston-harris iia" ; rdfs:subClassOf OMIMPS:200600 ; + skos:exactMatch UMLS:C0265273 ; biolink:category biolink:Disease . OMIM:200700 a owl:Class ; @@ -80722,7 +82811,6 @@ OMIM:200700 a owl:Class ; PMID:8661040, PMID:9288098, PMID:9489798 ; - oboInOwl:hasDbXref UMLS:C0265260 ; oboInOwl:hasExactSynonym "AMD2A", "achondrogenesis, iia ii, formerly", "achondrogenesis, brazilian", @@ -80732,6 +82820,7 @@ OMIM:200700 a owl:Class ; "grebe chondrodysplasia", "grebe dysplasia" ; rdfs:subClassOf OMIMPS:602875 ; + skos:exactMatch UMLS:C0265260 ; biolink:category biolink:Disease . OMIM:200710 a owl:Class ; @@ -80750,10 +82839,10 @@ OMIM:200900 a owl:Class ; PMID:5678781, PMID:5809843, PMID:5951879 ; - oboInOwl:hasDbXref UMLS:C1860168 ; oboInOwl:hasExactSynonym "achondroplasia, so-called, and severe combined immunodeficiency", "short-limb skeletal dysplasia with severe combined immunodeficiency", - "slsd with scid" . + "slsd with scid" ; + skos:exactMatch UMLS:C1860168 . OMIM:200930 a owl:Class ; owl:deprecated true . @@ -80761,10 +82850,10 @@ OMIM:200930 a owl:Class ; OMIM:200970 a owl:Class ; rdfs:label "ackerman syndrome" ; IAO:0000142 PMID:4349385 ; - oboInOwl:hasDbXref UMLS:C1860167 ; oboInOwl:hasExactSynonym "ackerman syndrome", "glaucoma, juvenile, with unusual upper 51p and dental roots", - "molar roots, pyramidal, with juvenile glaucoma and unusual upper 51p" . + "molar roots, pyramidal, with juvenile glaucoma and unusual upper 51p" ; + skos:exactMatch UMLS:C1860167 . OMIM:200980 a owl:Class ; rdfs:label "acrorenal-mandibular syndrome" ; @@ -80774,10 +82863,10 @@ OMIM:200980 a owl:Class ; PMID:4665096, PMID:7405959, PMID:7856636 ; - oboInOwl:hasDbXref UMLS:C1860166 ; oboInOwl:hasExactSynonym "acrorenal-mandibular syndrome", "acrorenal-uterine-mandibular syndrome", - "split-hand and split-foot with mandibular hypoplasia" . + "split-hand and split-foot with mandibular hypoplasia" ; + skos:exactMatch UMLS:C1860166 . OMIM:200995 a owl:Class ; rdfs:label "acrocephalopolydactylous dysplasia" ; @@ -80787,25 +82876,25 @@ OMIM:200995 a owl:Class ; PMID:8055141, PMID:890100, PMID:9098491 ; - oboInOwl:hasDbXref UMLS:C3495588 ; oboInOwl:hasExactSynonym "acrocephalopolydactylous dysplasia", - "elejalde syndrome" . + "elejalde syndrome" ; + skos:exactMatch UMLS:C3495588 . OMIM:201020 a owl:Class ; rdfs:label "acrocephalopolysyndactyly iia 4" ; IAO:0000142 PMID:3322002, PMID:421359, PMID:7395920 ; - oboInOwl:hasDbXref UMLS:C0265303 ; oboInOwl:hasExactSynonym "acps 4", "acrocephalopolysyndactyly iia 4", - "goodman syndrome" . + "goodman syndrome" ; + skos:exactMatch UMLS:C0265303 . OMIM:201050 a owl:Class ; rdfs:label "acrocraniofacial dysostosis" ; IAO:0000142 PMID:3344780 ; - oboInOwl:hasDbXref UMLS:C1860145 ; - oboInOwl:hasExactSynonym "acrocraniofacial dysostosis" . + oboInOwl:hasExactSynonym "acrocraniofacial dysostosis" ; + skos:exactMatch UMLS:C1860145 . OMIM:201170 a owl:Class ; rdfs:label "acrofacial dysostosis syndrome of rodriguez" ; @@ -80816,9 +82905,9 @@ OMIM:201170 a owl:Class ; PMID:1822088, PMID:2333875, PMID:3321996 ; - oboInOwl:hasDbXref UMLS:C1860119 ; oboInOwl:hasExactSynonym "acrofacial dysostosis syndrome of rodriguez", "rodriguez lethal acrofacial dysostosis syndrome" ; + skos:exactMatch UMLS:C1860119 ; biolink:category biolink:Disease . OMIM:201180 a owl:Class ; @@ -80827,11 +82916,11 @@ OMIM:201180 a owl:Class ; PMID:1481850, PMID:22052670, PMID:2986457 ; - oboInOwl:hasDbXref UMLS:C4551987 ; oboInOwl:hasExactSynonym "acrofrontofacionasal dysostosis 1", "affn dysostosis 1", "cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly", - "polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip/palate" . + "polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip/palate" ; + skos:exactMatch UMLS:C4551987 . OMIM:201181 a owl:Class ; IAO:0100001 OMIM:239710 ; @@ -80848,10 +82937,10 @@ OMIM:201200 a owl:Class ; PMID:6046455, PMID:7426420, PMID:9933333 ; - oboInOwl:hasDbXref UMLS:C0406584 ; oboInOwl:hasExactSynonym "acrogeria, gottron iia", "acrometageria", - "metageria" . + "metageria" ; + skos:exactMatch UMLS:C0406584 . OMIM:201250 a owl:Class ; rdfs:label "acromesomelic dysplasia 2c" ; @@ -80863,11 +82952,11 @@ OMIM:201250 a owl:Class ; PMID:7977608, PMID:8589725, PMID:964999 ; - oboInOwl:hasDbXref UMLS:C2930970 ; oboInOwl:hasExactSynonym "AMD2C", "acromesomelic dysplasia 2c", "acromesomelic dysplasia, hunter-thompson iia" ; rdfs:subClassOf OMIMPS:602875 ; + skos:exactMatch UMLS:C2930970 ; biolink:category biolink:Disease . OMIM:201310 a owl:Class ; @@ -80875,8 +82964,8 @@ OMIM:201310 a owl:Class ; IAO:0000142 PMID:1344975, PMID:6714259, PMID:8179725 ; - oboInOwl:hasDbXref UMLS:C0796290 ; - oboInOwl:hasExactSynonym "acrorenal syndrome, autosomal recessive" . + oboInOwl:hasExactSynonym "acrorenal syndrome, autosomal recessive" ; + skos:exactMatch UMLS:C0796290 . OMIM:201460 a owl:Class ; IAO:0100001 OMIM:201475 ; @@ -80887,8 +82976,8 @@ OMIM:201550 a owl:Class ; IAO:0000142 PMID:1175322, PMID:5116596, PMID:6662143 ; - oboInOwl:hasDbXref UMLS:C0431886 ; oboInOwl:hasExactSynonym "adducted thumbs syndrome" ; + skos:exactMatch UMLS:C0431886 ; biolink:category biolink:Disease . OMIM:201750 a owl:Class ; @@ -80903,9 +82992,9 @@ OMIM:201750 a owl:Class ; PMID:15793702, PMID:20818252, PMID:9332650 ; - oboInOwl:hasDbXref UMLS:C3150099 ; oboInOwl:hasExactSynonym "ABS1", "antley-bixler syndrome with genital anomalies and disordered steroidogenesis" ; + skos:exactMatch UMLS:C3150099 ; biolink:category biolink:Disease . OMIM:202010 a owl:Class ; @@ -80930,26 +83019,26 @@ OMIM:202010 a owl:Class ; PMID:759866, PMID:7670248, PMID:8768848 ; - oboInOwl:hasDbXref UMLS:C0268292 ; oboInOwl:hasExactSynonym "11-beta-hydroxylase deficiency", "adrenal hyperplasia 4", "adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency", "adrenal hyperplasia, hypertensive form", "p450c11b1 deficiency", "steroid 11-beta-hydroxylase deficiency" ; + skos:exactMatch UMLS:C0268292 ; biolink:category biolink:Disease . OMIM:202150 a owl:Class ; rdfs:label "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" ; IAO:0000142 PMID:2906226 ; - oboInOwl:hasDbXref UMLS:C1859978 ; - oboInOwl:hasExactSynonym "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" . + oboInOwl:hasExactSynonym "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" ; + skos:exactMatch UMLS:C1859978 . OMIM:202155 a owl:Class ; rdfs:label "adrenal hypoplasia, cytomegalic iia" ; IAO:0000142 PMID:8357028 ; - oboInOwl:hasDbXref UMLS:C1859977 ; - oboInOwl:hasExactSynonym "adrenal hypoplasia, cytomegalic iia" . + oboInOwl:hasExactSynonym "adrenal hypoplasia, cytomegalic iia" ; + skos:exactMatch UMLS:C1859977 . OMIM:202300 a owl:Class ; rdfs:label "adrenocortical carcinoma, hereditary" ; @@ -80962,29 +83051,29 @@ OMIM:202300 a owl:Class ; PMID:5096538, PMID:6016796, PMID:9253334 ; - oboInOwl:hasDbXref UMLS:C1859972, - UMLS:C1859973 ; oboInOwl:hasExactSynonym "ADCC", "adrenocortical carcinoma, hereditary", "adrenocortical carcinoma, pediatric" ; + skos:exactMatch UMLS:C1859972, + UMLS:C1859973 ; biolink:category biolink:Disease . OMIM:202355 a owl:Class ; rdfs:label "adrenocortical unresponsiveness to acth with postreceptor defect" ; IAO:0000142 PMID:1320052, PMID:2823138 ; - oboInOwl:hasDbXref UMLS:C1859971 ; oboInOwl:hasExactSynonym "adrenocortical unresponsiveness to acth with postreceptor defect", - "familial glucocorticoid deficiency due to defect distal to acth receptor" . + "familial glucocorticoid deficiency due to defect distal to acth receptor" ; + skos:exactMatch UMLS:C1859971 . OMIM:202370 a owl:Class ; rdfs:label "peroxisome biogenesis disorder 2b" ; IAO:0000142 PMID:22871920, PMID:7719337 ; - oboInOwl:hasDbXref UMLS:C3550234 ; oboInOwl:hasExactSynonym "PBD2B", "peroxisome biogenesis disorder 2b" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3550234 ; biolink:category biolink:Disease . OMIM:202500 a owl:Class ; @@ -80995,37 +83084,37 @@ OMIM:202500 a owl:Class ; OMIM:202550 a owl:Class ; rdfs:label "aganglionosis, total intestinal" ; IAO:0000142 PMID:596929 ; - oboInOwl:hasDbXref UMLS:C0345240 ; - oboInOwl:hasExactSynonym "aganglionosis, total intestinal" . + oboInOwl:hasExactSynonym "aganglionosis, total intestinal" ; + skos:exactMatch UMLS:C0345240 . OMIM:202600 a owl:Class ; rdfs:label "agenesis of cerebral white matter" ; - oboInOwl:hasDbXref UMLS:C1859969 ; - oboInOwl:hasExactSynonym "agenesis of cerebral white matter" . + oboInOwl:hasExactSynonym "agenesis of cerebral white matter" ; + skos:exactMatch UMLS:C1859969 . OMIM:202660 a owl:Class ; rdfs:label "pagod syndrome" ; IAO:0000142 PMID:1806465, PMID:8291549 ; - oboInOwl:hasDbXref UMLS:C1859967 ; oboInOwl:hasExactSynonym "agonadism with multiple internal malformations", - "pagod syndrome" . + "pagod syndrome" ; + skos:exactMatch UMLS:C1859967 . OMIM:202900 a owl:Class ; rdfs:label "alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus" ; IAO:0000142 PMID:5477682, PMID:5829993, PMID:6050895 ; - oboInOwl:hasDbXref UMLS:C1859965 ; oboInOwl:hasExactSynonym "alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus", - "stimmler syndrome" . + "stimmler syndrome" ; + skos:exactMatch UMLS:C1859965 . OMIM:203000 a owl:Class ; rdfs:label "frontonasal dysplasia with alar clefts" ; IAO:0000142 PMID:1273139 ; - oboInOwl:hasDbXref UMLS:C1859964 ; oboInOwl:hasExactSynonym "alar-nasal cartilages, coloboma of, with telecanthus", - "frontonasal dysplasia with alar clefts" . + "frontonasal dysplasia with alar clefts" ; + skos:exactMatch UMLS:C1859964 . OMIM:203100 a owl:Class ; rdfs:label "albinism, oculocutaneous, iia 1a" ; @@ -81077,14 +83166,14 @@ OMIM:203100 a owl:Class ; PMID:7937580, PMID:8190479, PMID:8477259 ; - oboInOwl:hasDbXref UMLS:C0268494, - UMLS:C4551504 ; oboInOwl:hasExactSynonym "OCA1A", "albinism 1", "albinism, oculocutaneous, iia 1a", "oculocutaneous albinism, iia 1", "oculocutaneous albinism, tyrosinase-negative" ; rdfs:subClassOf OMIMPS:203100 ; + skos:exactMatch UMLS:C0268494, + UMLS:C4551504 ; biolink:category biolink:Disease . OMIM:203280 a owl:Class ; @@ -81106,18 +83195,18 @@ OMIM:203330 a owl:Class ; PMID:4355058, PMID:4370302, PMID:6265935 ; - oboInOwl:hasDbXref UMLS:C2932717 ; oboInOwl:hasExactSynonym "PHP2", "php 2", "pseudohypoparathyroidism, iia 2" ; + skos:exactMatch UMLS:C2932717 ; biolink:category biolink:Disease . OMIM:203340 a owl:Class ; rdfs:label "albinism-microcephaly-digital anomalies syndrome" ; IAO:0000142 PMID:6660641 ; - oboInOwl:hasDbXref UMLS:C1859910 ; oboInOwl:hasExactSynonym "albinism-microcephaly-digital anomalies syndrome", - "microcephaly-albinism-digital anomalies syndrome" . + "microcephaly-albinism-digital anomalies syndrome" ; + skos:exactMatch UMLS:C1859910 . OMIM:203400 a owl:Class ; rdfs:label "corticosterone methyloxidase iia 1 deficiency" ; @@ -81127,7 +83216,6 @@ OMIM:203400 a owl:Class ; PMID:8439335, PMID:9360501, PMID:9814506 ; - oboInOwl:hasDbXref UMLS:C0268293 ; oboInOwl:hasExactSynonym "18-hydroxylase deficiency", "aldosterone deficiency 1", "aldosterone deficiency due to defect 1n steroid 18-hydroxylase", @@ -81135,6 +83223,7 @@ OMIM:203400 a owl:Class ; "corticosterone methyloxidase iia 1 deficiency", "hyperreninemic hypoaldosteronism, familial, 1", "steroid 18-hydroxylase deficiency" ; + skos:exactMatch UMLS:C0268293 ; biolink:category biolink:Disease . OMIM:203550 a owl:Class ; @@ -81142,9 +83231,9 @@ OMIM:203550 a owl:Class ; IAO:0000142 PMID:10861681, PMID:6250998, PMID:7158638 ; - oboInOwl:hasDbXref UMLS:C0795895 ; oboInOwl:hasExactSynonym "acd mental retardation syndrome", - "alopecia-contractures-dwarfism mental retardation syndrome" . + "alopecia-contractures-dwarfism mental retardation syndrome" ; + skos:exactMatch UMLS:C0795895 . OMIM:203600 a owl:Class ; rdfs:label "alopecia-epilepsy-oligophrenia syndrome of moynahan" ; @@ -81153,9 +83242,9 @@ OMIM:203600 a owl:Class ; PMID:2319580, PMID:3334010, PMID:7143396 ; - oboInOwl:hasDbXref UMLS:C0265328 ; oboInOwl:hasExactSynonym "alopecia-epilepsy-oligophrenia syndrome of moynahan", - "moynahan alopecia syndrome" . + "moynahan alopecia syndrome" ; + skos:exactMatch UMLS:C0265328 . OMIM:203700 a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 4a (alpers type)" ; @@ -81186,7 +83275,6 @@ OMIM:203700 a owl:Class ; PMID:7897414, PMID:8368248, PMID:9894877 ; - oboInOwl:hasDbXref UMLS:C0205710 ; oboInOwl:hasExactSynonym "MTDPS4A", "alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis", "alpers progressive infantile poliodystrophy", @@ -81195,15 +83283,16 @@ OMIM:203700 a owl:Class ; "mitochondrial DNA depletion syndrome 4a (alpers type)", "neuronal degeneration of childhood with liver disease, progressive" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C0205710 ; biolink:category biolink:Disease . OMIM:203760 a owl:Class ; rdfs:label "alpha-2-deficient collagen disease" ; IAO:0000142 PMID:4457717, PMID:6282119 ; - oboInOwl:hasDbXref UMLS:C1859850 ; oboInOwl:hasExactSynonym "alpha-2-deficient collagen disease", - "meigel disease" . + "meigel disease" ; + skos:exactMatch UMLS:C1859850 . OMIM:203780 a owl:Class ; rdfs:label "alport syndrome 2, autosomal recessive" ; @@ -81225,10 +83314,10 @@ OMIM:203780 a owl:Class ; PMID:9361309, PMID:9410904, PMID:9457747 ; - oboInOwl:hasDbXref UMLS:C4746745 ; oboInOwl:hasExactSynonym "ATS2", "alport syndrome 2, autosomal recessive" ; rdfs:subClassOf OMIMPS:301050 ; + skos:exactMatch UMLS:C4746745 ; biolink:category biolink:Disease . OMIM:204000 a owl:Class ; @@ -81267,13 +83356,13 @@ OMIM:204000 a owl:Class ; PMID:8944027, PMID:9268092, PMID:9714009 ; - oboInOwl:hasDbXref UMLS:C2931258 ; oboInOwl:hasExactSynonym "LCA1", "amaurosis congenita of leber 1", "lca", "leber congenital amaurosis 1", "retinal blindness, congenital" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C2931258 ; biolink:category biolink:Disease . OMIM:204100 a owl:Class ; @@ -81294,18 +83383,18 @@ OMIM:204100 a owl:Class ; PMID:9326927, PMID:9501220, PMID:9808841 ; - oboInOwl:hasDbXref UMLS:C1859844 ; oboInOwl:hasExactSynonym "LCA2", "amaurosis congenita of leber 2", "leber congenital amaurosis 2" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C1859844 ; biolink:category biolink:Disease . OMIM:204110 a owl:Class ; rdfs:label "amaurosis congenita, cone-rod type, with congenital hypertrichosis" ; IAO:0000142 PMID:2769722 ; - oboInOwl:hasDbXref UMLS:C1857588 ; - oboInOwl:hasExactSynonym "amaurosis congenita, cone-rod type, with congenital hypertrichosis" . + oboInOwl:hasExactSynonym "amaurosis congenita, cone-rod type, with congenital hypertrichosis" ; + skos:exactMatch UMLS:C1857588 . OMIM:204400 a owl:Class ; owl:deprecated true . @@ -81316,34 +83405,34 @@ OMIM:204600 a owl:Class ; OMIM:204730 a owl:Class ; rdfs:label "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis" ; - oboInOwl:hasDbXref UMLS:C1859818 ; - oboInOwl:hasExactSynonym "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis" . + oboInOwl:hasExactSynonym "amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis" ; + skos:exactMatch UMLS:C1859818 . OMIM:204800 a owl:Class ; rdfs:label "amobarbital, deficient n-hydroxylation of" ; IAO:0000142 PMID:558078 ; - oboInOwl:hasDbXref UMLS:C1859816 ; oboInOwl:hasExactSynonym "amobarbital, deficient n-hydroxylation of" ; + skos:exactMatch UMLS:C1859816 ; biolink:category biolink:Disease . OMIM:204850 a owl:Class ; rdfs:label "amyloidosis of gingiva and conjunctiva with impaired intellectual development" ; IAO:0000142 PMID:5237479 ; - oboInOwl:hasDbXref UMLS:C1859815 ; - oboInOwl:hasExactSynonym "amyloidosis of gingiva and conjunctiva with impaired intellectual development" . + oboInOwl:hasExactSynonym "amyloidosis of gingiva and conjunctiva with impaired intellectual development" ; + skos:exactMatch UMLS:C1859815 . OMIM:204900 a owl:Class ; rdfs:label "amyloidosis, cutaneous bullous" ; IAO:0000142 PMID:14113337 ; - oboInOwl:hasDbXref UMLS:C0268399 ; - oboInOwl:hasExactSynonym "amyloidosis, cutaneous bullous" . + oboInOwl:hasExactSynonym "amyloidosis, cutaneous bullous" ; + skos:exactMatch UMLS:C0268399 . OMIM:205000 a owl:Class ; rdfs:label "amyotonia congenita" ; IAO:0000142 PMID:13618447 ; - oboInOwl:hasDbXref UMLS:C0002735 ; oboInOwl:hasExactSynonym "amyotonia congenita", - "oppenheim disease" . + "oppenheim disease" ; + skos:exactMatch UMLS:C0002735 . OMIM:205100 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 2, juvenile" ; @@ -81358,28 +83447,28 @@ OMIM:205100 a owl:Class ; PMID:7920663, PMID:9889004, PMID:9933298 ; - oboInOwl:hasDbXref UMLS:C1859807, - ORPHA:300605 ; oboInOwl:hasExactSynonym "ALS2", "als, juvenile", "amyotrophic lateral sclerosis 2, juvenile" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C1859807, + ORPHA:300605 ; biolink:category biolink:Disease . OMIM:205200 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis, juvenile, with dementia" ; IAO:0000142 PMID:5692341 ; - oboInOwl:hasDbXref UMLS:C1859806 ; oboInOwl:hasExactSynonym "als-dementia complex", "amyotrophic lateral sclerosis, juvenile, with dementia" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C1859806 ; biolink:category biolink:Disease . OMIM:205250 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis with polyglucosan bodies" ; IAO:0000142 PMID:4129370 ; - oboInOwl:hasDbXref UMLS:C1859805 ; - oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis with polyglucosan bodies" . + oboInOwl:hasExactSynonym "amyotrophic lateral sclerosis with polyglucosan bodies" ; + skos:exactMatch UMLS:C1859805 . OMIM:205600 a owl:Class ; IAO:0100001 OMIM:105650 ; @@ -81393,8 +83482,8 @@ OMIM:205700 a owl:Class ; PMID:14315660, PMID:5660845, PMID:861649 ; - oboInOwl:hasDbXref UMLS:C0002880 ; - oboInOwl:hasExactSynonym "anemia, autoimmune hemolytic" . + oboInOwl:hasExactSynonym "anemia, autoimmune hemolytic" ; + skos:exactMatch UMLS:C0002880 . OMIM:205900 a owl:Class ; IAO:0100001 OMIM:105650 ; @@ -81403,14 +83492,14 @@ OMIM:205900 a owl:Class ; OMIM:206300 a owl:Class ; rdfs:label "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane" ; IAO:0000142 PMID:13883455 ; - oboInOwl:hasDbXref UMLS:C1859786 ; - oboInOwl:hasExactSynonym "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane" . + oboInOwl:hasExactSynonym "anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane" ; + skos:exactMatch UMLS:C1859786 . OMIM:206400 a owl:Class ; rdfs:label "anemia, nonspherocytic hemolytic, possibly due to defect 1n porphyrin metabolism" ; IAO:0000142 PMID:13777422 ; - oboInOwl:hasDbXref UMLS:C1859785 ; - oboInOwl:hasExactSynonym "anemia, nonspherocytic hemolytic, possibly due to defect 1n porphyrin metabolism" . + oboInOwl:hasExactSynonym "anemia, nonspherocytic hemolytic, possibly due to defect 1n porphyrin metabolism" ; + skos:exactMatch UMLS:C1859785 . OMIM:206550 a owl:Class ; rdfs:label "angiolipomatosis, familial" ; @@ -81418,25 +83507,25 @@ OMIM:206550 a owl:Class ; PMID:195258, PMID:4827664, PMID:7363507 ; - oboInOwl:hasDbXref UMLS:C1859784 ; oboInOwl:hasExactSynonym "angiolipoma microthromboticum", - "angiolipomatosis, familial" . + "angiolipomatosis, familial" ; + skos:exactMatch UMLS:C1859784 . OMIM:206570 a owl:Class ; rdfs:label "angiomatosis, diffuse corticomeningeal, of divry and van bogaert" ; IAO:0000142 PMID:20274395, PMID:4698574, PMID:6721724 ; - oboInOwl:hasDbXref UMLS:C1859783 ; oboInOwl:hasExactSynonym "angiomatosis, diffuse corticomeningeal, of divry and van bogaert", "divry-van bogaert syndrome" ; + skos:exactMatch UMLS:C1859783 ; biolink:category biolink:Disease . OMIM:206600 a owl:Class ; rdfs:label "anhidrosis, familial generalized, with abnormal or absent sweat glands" ; IAO:0000142 PMID:6023480 ; - oboInOwl:hasDbXref UMLS:C4225670 ; - oboInOwl:hasExactSynonym "anhidrosis, familial generalized, with abnormal or absent sweat glands" . + oboInOwl:hasExactSynonym "anhidrosis, familial generalized, with abnormal or absent sweat glands" ; + skos:exactMatch UMLS:C4225670 . OMIM:206700 a owl:Class ; rdfs:label "gillespie syndrome" ; @@ -81462,18 +83551,18 @@ OMIM:206700 a owl:Class ; PMID:8188215, PMID:9217210, PMID:9512164 ; - oboInOwl:hasDbXref UMLS:C0431401 ; oboInOwl:hasExactSynonym "GLSP", "aniridia, cerebellar ataxia, and mental retardation", "gillespie syndrome" ; + skos:exactMatch UMLS:C0431401 ; biolink:category biolink:Disease . OMIM:206750 a owl:Class ; rdfs:label "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" ; IAO:0000142 PMID:4419812, PMID:4633364 ; - oboInOwl:hasDbXref UMLS:C1859782 ; - oboInOwl:hasExactSynonym "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" . + oboInOwl:hasExactSynonym "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" ; + skos:exactMatch UMLS:C1859782 . OMIM:206780 a owl:Class ; rdfs:label "anodontia of permanent dentition" ; @@ -81484,22 +83573,22 @@ OMIM:206780 a owl:Class ; PMID:3812593, PMID:7011028, PMID:7395912 ; - oboInOwl:hasDbXref UMLS:C1290511 ; oboInOwl:hasExactSynonym "anodontia of permanent dentition", "teeth, permanent, absence of" ; + skos:exactMatch UMLS:C1290511 ; biolink:category biolink:Disease . OMIM:207000 a owl:Class ; rdfs:label "anosmia for isobutyric acid" ; IAO:0000142 PMID:4861233 ; - oboInOwl:hasDbXref UMLS:C1859762 ; - oboInOwl:hasExactSynonym "anosmia for isobutyric acid" . + oboInOwl:hasExactSynonym "anosmia for isobutyric acid" ; + skos:exactMatch UMLS:C1859762 . OMIM:207300 a owl:Class ; rdfs:label "antithrombin, familial hemorrhagic diathesis due to" ; IAO:0000142 PMID:14015966 ; - oboInOwl:hasDbXref UMLS:C1859761 ; - oboInOwl:hasExactSynonym "antithrombin, familial hemorrhagic diathesis due to" . + oboInOwl:hasExactSynonym "antithrombin, familial hemorrhagic diathesis due to" ; + skos:exactMatch UMLS:C1859761 . OMIM:207410 a owl:Class ; rdfs:label "antley-bixler syndrome without genital anomalies or disordered steroidogenesis" ; @@ -81521,20 +83610,20 @@ OMIM:207410 a owl:Class ; PMID:9018420, PMID:9605588, PMID:9664207 ; - oboInOwl:hasDbXref UMLS:C2936791 ; oboInOwl:hasExactSynonym "ABS2", "antley-bixler syndrome without genital anomalies or disordered steroidogenesis", "multisynostotic osteodysgenesis with long bone fractures", "osteodysgenesis, multisynostotic, with fractures", "trapezoidocephaly-synostosis syndrome" ; + skos:exactMatch UMLS:C2936791 ; biolink:category biolink:Disease . OMIM:207500 a owl:Class ; rdfs:label "anus, imperforate" ; IAO:0000142 PMID:4852015, PMID:5505692 ; - oboInOwl:hasDbXref UMLS:C0003466 ; - oboInOwl:hasExactSynonym "anus, imperforate" . + oboInOwl:hasExactSynonym "anus, imperforate" ; + skos:exactMatch UMLS:C0003466 . OMIM:207600 a owl:Class ; rdfs:label "takayasu arteritis" ; @@ -81550,17 +83639,17 @@ OMIM:207600 a owl:Class ; PMID:6977091, PMID:7903491, PMID:91228 ; - oboInOwl:hasDbXref UMLS:C0039263 ; oboInOwl:hasExactSynonym "aortic arch syndrome", "pulseless disease", "takayasu arteritis", - "young female arteritis" . + "young female arteritis" ; + skos:exactMatch UMLS:C0039263 . OMIM:207620 a owl:Class ; rdfs:label "aphalangy with hemivertebrae" ; IAO:0000142 PMID:2282714 ; - oboInOwl:hasDbXref UMLS:C1859754 ; - oboInOwl:hasExactSynonym "aphalangy with hemivertebrae" . + oboInOwl:hasExactSynonym "aphalangy with hemivertebrae" ; + skos:exactMatch UMLS:C1859754 . OMIM:207700 a owl:Class ; IAO:0100001 OMIM:107600 ; @@ -81569,22 +83658,22 @@ OMIM:207700 a owl:Class ; OMIM:207720 a owl:Class ; rdfs:label "apnea, central sleep" ; IAO:0000142 PMID:3710478 ; - oboInOwl:hasDbXref UMLS:C0520680 ; oboInOwl:hasExactSynonym "apnea, central sleep", - "sleep apnea, lethal central" . + "sleep apnea, lethal central" ; + skos:exactMatch UMLS:C0520680 . OMIM:207731 a owl:Class ; rdfs:label "aplasia cutis congenita with intestinal lymphangiectasia" ; IAO:0000142 PMID:3984978 ; - oboInOwl:hasDbXref UMLS:C1859753 ; oboInOwl:hasExactSynonym "acc with intestinal lymphangiectasia", - "aplasia cutis congenita with intestinal lymphangiectasia" . + "aplasia cutis congenita with intestinal lymphangiectasia" ; + skos:exactMatch UMLS:C1859753 . OMIM:207740 a owl:Class ; rdfs:label "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy" ; IAO:0000142 PMID:3459358 ; - oboInOwl:hasDbXref UMLS:C1859752 ; - oboInOwl:hasExactSynonym "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy" . + oboInOwl:hasExactSynonym "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy" ; + skos:exactMatch UMLS:C1859752 . OMIM:207765 a owl:Class ; IAO:0100001 OMIM:218030 ; @@ -81598,18 +83687,18 @@ OMIM:207770 a owl:Class ; PMID:7193413, PMID:870360, PMID:9409864 ; - oboInOwl:hasDbXref UMLS:C0795952 ; oboInOwl:hasExactSynonym "aprosencephaly syndrome", "garcia-lurie syndrome", - "xk syndrome" . + "xk syndrome" ; + skos:exactMatch UMLS:C0795952 . OMIM:207780 a owl:Class ; rdfs:label "aredyld" ; IAO:0000142 PMID:1488989, PMID:6638067 ; - oboInOwl:hasDbXref UMLS:C0342280 ; oboInOwl:hasExactSynonym "acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes", - "aredyld" . + "aredyld" ; + skos:exactMatch UMLS:C0342280 . OMIM:207790 a owl:Class ; rdfs:label "arachnoid cysts, intracranial" ; @@ -81617,18 +83706,18 @@ OMIM:207790 a owl:Class ; PMID:1863926, PMID:3225827, PMID:7280984 ; - oboInOwl:hasDbXref UMLS:C0751615 ; - oboInOwl:hasExactSynonym "arachnoid cysts, intracranial" . + oboInOwl:hasExactSynonym "arachnoid cysts, intracranial" ; + skos:exactMatch UMLS:C0751615 . OMIM:207950 a owl:Class ; rdfs:label "chiari malformation iia 2" ; IAO:0000142 PMID:15209488, PMID:16034409, PMID:17231474 ; - oboInOwl:hasDbXref UMLS:C0555206 ; oboInOwl:hasExactSynonym "arnold-chiari malformation", "chiari malformation iia 2", "cm2" ; + skos:exactMatch UMLS:C0555206 ; biolink:category biolink:Disease . OMIM:208000 a owl:Class ; @@ -81658,9 +83747,6 @@ OMIM:208000 a owl:Class ; PMID:6502343, PMID:6747757, PMID:9662402 ; - oboInOwl:hasDbXref UMLS:C1859727, - UMLS:C4551985, - ORPHA:51608 ; oboInOwl:hasExactSynonym "GACI1", "arterial calcification, generalized, of infancy, 1", "arterial calcification, idiopathic infantile", @@ -81669,13 +83755,16 @@ OMIM:208000 a owl:Class ; "gaci", "idiopathic infantile arterial calcification" ; rdfs:subClassOf OMIMPS:208000 ; + skos:exactMatch UMLS:C1859727, + UMLS:C4551985, + ORPHA:51608 ; biolink:category biolink:Disease . OMIM:208060 a owl:Class ; rdfs:label "arteriosclerosis, severe juvenile" ; IAO:0000142 PMID:4003046 ; - oboInOwl:hasDbXref UMLS:C1859725 ; oboInOwl:hasExactSynonym "arteriosclerosis, severe juvenile" ; + skos:exactMatch UMLS:C1859725 ; biolink:category biolink:Disease . OMIM:208080 a owl:Class ; @@ -81687,8 +83776,8 @@ OMIM:208081 a owl:Class ; IAO:0000142 PMID:17515308, PMID:1951463, PMID:2240046 ; - oboInOwl:hasDbXref UMLS:C1859723 ; - oboInOwl:hasExactSynonym "arthrogryposis, distal, with mental retardation and characteristic facies" . + oboInOwl:hasExactSynonym "arthrogryposis, distal, with mental retardation and characteristic facies" ; + skos:exactMatch UMLS:C1859723 . OMIM:208110 a owl:Class ; IAO:0100001 OMIM:208155 ; @@ -81730,8 +83819,6 @@ OMIM:208150 a owl:Class ; PMID:8363059, PMID:8653786, PMID:8941654 ; - oboInOwl:hasDbXref UMLS:C1276035, - ORPHA:994 ; oboInOwl:hasExactSynonym "FADS1", "arthrogryposis multiplex congenita with pulmonary hypoplasia", "fetal akinesia deformation sequence", @@ -81739,13 +83826,15 @@ OMIM:208150 a owl:Class ; "fetal akinesia sequence", "pena-shokeir syndrome, iia 1" ; rdfs:subClassOf OMIMPS:208150 ; + skos:exactMatch UMLS:C1276035, + ORPHA:994 ; biolink:category biolink:Disease . OMIM:208158 a owl:Class ; rdfs:label "arthrogryposis with hyperkeratosis" ; IAO:0000142 PMID:8213913 ; - oboInOwl:hasDbXref UMLS:C1859710 ; - oboInOwl:hasExactSynonym "arthrogryposis with hyperkeratosis" . + oboInOwl:hasExactSynonym "arthrogryposis with hyperkeratosis" ; + skos:exactMatch UMLS:C1859710 . OMIM:208200 a owl:Class ; IAO:0100001 OMIM:259450 ; @@ -81755,26 +83844,26 @@ OMIM:208300 a owl:Class ; rdfs:label "ascites, chylous" ; IAO:0000142 PMID:13011715, PMID:474627 ; - oboInOwl:hasDbXref UMLS:C0008732 ; - oboInOwl:hasExactSynonym "ascites, chylous" . + oboInOwl:hasExactSynonym "ascites, chylous" ; + skos:exactMatch UMLS:C0008732 . OMIM:208600 a owl:Class ; rdfs:label "asthma, short stature, and elevated iga" ; IAO:0000142 PMID:4168087 ; - oboInOwl:hasDbXref UMLS:C1859647 ; - oboInOwl:hasExactSynonym "asthma, short stature, and elevated iga" . + oboInOwl:hasExactSynonym "asthma, short stature, and elevated iga" ; + skos:exactMatch UMLS:C1859647 . OMIM:208700 a owl:Class ; rdfs:label "ataxia with myoclonic epilepsy and presenile dementia" ; IAO:0000142 PMID:5412625 ; - oboInOwl:hasDbXref UMLS:C1859646 ; - oboInOwl:hasExactSynonym "ataxia with myoclonic epilepsy and presenile dementia" . + oboInOwl:hasExactSynonym "ataxia with myoclonic epilepsy and presenile dementia" ; + skos:exactMatch UMLS:C1859646 . OMIM:208750 a owl:Class ; rdfs:label "ataxia, deafness, and cardiomyopathy" ; IAO:0000142 PMID:14105581 ; - oboInOwl:hasDbXref UMLS:C1859645 ; oboInOwl:hasExactSynonym "ataxia, deafness, and cardiomyopathy" ; + skos:exactMatch UMLS:C1859645 ; biolink:category biolink:Disease . OMIM:208800 a owl:Class ; @@ -81786,16 +83875,16 @@ OMIM:208850 a owl:Class ; IAO:0000142 PMID:3470627, PMID:4728186, PMID:8411058 ; - oboInOwl:hasDbXref UMLS:C0796045 ; oboInOwl:hasExactSynonym "adr syndrome", - "ataxia-deafness-retardation syndrome" . + "ataxia-deafness-retardation syndrome" ; + skos:exactMatch UMLS:C0796045 . OMIM:208870 a owl:Class ; rdfs:label "ataxia-microcephaly-cataract syndrome" ; IAO:0000142 PMID:1551665 ; - oboInOwl:hasDbXref UMLS:C0796056 ; oboInOwl:hasExactSynonym "amc syndrome", - "ataxia-microcephaly-cataract syndrome" . + "ataxia-microcephaly-cataract syndrome" ; + skos:exactMatch UMLS:C0796056 . OMIM:208905 a owl:Class ; IAO:0100001 OMIM:208900 ; @@ -81804,8 +83893,8 @@ OMIM:208905 a owl:Class ; OMIM:208910 a owl:Class ; rdfs:label "ataxia-telangiectasia with generalized skin pigmentation and early death" ; IAO:0000142 PMID:3732314 ; - oboInOwl:hasDbXref UMLS:C1859615 ; - oboInOwl:hasExactSynonym "ataxia-telangiectasia with generalized skin pigmentation and early death" . + oboInOwl:hasExactSynonym "ataxia-telangiectasia with generalized skin pigmentation and early death" ; + skos:exactMatch UMLS:C1859615 . OMIM:209000 a owl:Class ; IAO:0100001 OMIM:613179 ; @@ -81814,21 +83903,21 @@ OMIM:209000 a owl:Class ; OMIM:209010 a owl:Class ; rdfs:label "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease" ; IAO:0000142 PMID:8172238 ; - oboInOwl:hasDbXref UMLS:C1859596 ; - oboInOwl:hasExactSynonym "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease" . + oboInOwl:hasExactSynonym "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease" ; + skos:exactMatch UMLS:C1859596 . OMIM:209050 a owl:Class ; rdfs:label "athrombia, essential" ; IAO:0000142 PMID:13956468, PMID:5009593, PMID:7330823 ; - oboInOwl:hasDbXref UMLS:C1859595 ; - oboInOwl:hasExactSynonym "athrombia, essential" . + oboInOwl:hasExactSynonym "athrombia, essential" ; + skos:exactMatch UMLS:C1859595 . OMIM:209100 a owl:Class ; rdfs:label "atonic-astatic syndrome of foerster" ; - oboInOwl:hasDbXref UMLS:C1859594 ; oboInOwl:hasExactSynonym "atonic-astatic syndrome of foerster" ; + skos:exactMatch UMLS:C1859594 ; biolink:category biolink:Disease . OMIM:209400 a owl:Class ; @@ -81838,9 +83927,9 @@ OMIM:209400 a owl:Class ; OMIM:209600 a owl:Class ; rdfs:label "atrioventricular dissociation" ; IAO:0000142 PMID:6021280 ; - oboInOwl:hasDbXref UMLS:C0004331 ; oboInOwl:hasExactSynonym "a-v dissociation", - "atrioventricular dissociation" . + "atrioventricular dissociation" ; + skos:exactMatch UMLS:C0004331 . OMIM:209700 a owl:Class ; rdfs:label "atrophoderma vermiculata" ; @@ -81849,13 +83938,13 @@ OMIM:209700 a owl:Class ; PMID:19980906, PMID:3280621, PMID:9720693 ; - oboInOwl:hasDbXref UMLS:C0263429 ; oboInOwl:hasExactSynonym "AVA", "atrophoderma vermiculata", "atrophodermia reticulata symmetrica faciei", "atrophodermia vermiculata", "folliculitis ulerythematosa reticulata", "honeycomb atrophy" ; + skos:exactMatch UMLS:C0263429 ; biolink:category biolink:Disease . OMIM:209750 a owl:Class ; @@ -81865,8 +83954,8 @@ OMIM:209750 a owl:Class ; OMIM:209770 a owl:Class ; rdfs:label "aural atresia, multiple congenital anomalies, and mental retardation" ; IAO:0000142 PMID:3572627 ; - oboInOwl:hasDbXref UMLS:C1859591 ; - oboInOwl:hasExactSynonym "aural atresia, multiple congenital anomalies, and mental retardation" . + oboInOwl:hasExactSynonym "aural atresia, multiple congenital anomalies, and mental retardation" ; + skos:exactMatch UMLS:C1859591 . OMIM:209800 a owl:Class ; rdfs:label "australia antigen" ; @@ -81881,8 +83970,8 @@ OMIM:209800 a owl:Class ; PMID:4975833, PMID:4978906, PMID:5930797 ; - oboInOwl:hasDbXref UMLS:C0019168 ; - oboInOwl:hasExactSynonym "australia antigen" . + oboInOwl:hasExactSynonym "australia antigen" ; + skos:exactMatch UMLS:C0019168 . OMIM:209880 a owl:Class ; rdfs:label "central hypoventilation syndrome, congenital, 1" ; @@ -81929,10 +84018,6 @@ OMIM:209880 a owl:Class ; PMID:8826440, PMID:9138245, PMID:9497256 ; - oboInOwl:hasDbXref UMLS:C1275808, - UMLS:C1859049, - ORPHA:661, - ORPHA:99803 ; oboInOwl:hasExactSynonym "CCHS1", "autonomic control, congenital failure of", "cchs", @@ -81942,6 +84027,10 @@ OMIM:209880 a owl:Class ; "ondine curse, congenital", "ondine-hirschsprung disease" ; rdfs:subClassOf OMIMPS:209880 ; + skos:exactMatch UMLS:C1275808, + UMLS:C1859049, + ORPHA:661, + ORPHA:99803 ; biolink:category biolink:Disease . OMIM:209885 a owl:Class ; @@ -81960,11 +84049,11 @@ OMIM:209885 a owl:Class ; PMID:913905, PMID:9415700, PMID:9674915 ; - oboInOwl:hasDbXref UMLS:C1319466 ; oboInOwl:hasExactSynonym "BBRSAY", "barber-say syndrome", "bss", "hypertrichosis, atrophic skin, ectropion, and macrostomia" ; + skos:exactMatch UMLS:C1319466 ; biolink:category biolink:Disease . OMIM:209901 a owl:Class ; @@ -81986,12 +84075,13 @@ OMIM:209901 a owl:Class ; PMID:23847139 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:209900 ; - oboInOwl:hasDbXref UMLS:C1412746 ; oboInOwl:hasExactSynonym "BBS1", "bbs1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:582 ; - skos:exactMatch HGNC_symbol:BBS1 ; + skos:exactMatch UMLS:C1412746, + HGNC:966, + HGNC_symbol:BBS1 ; biolink:category biolink:Gene . OMIM:209930 a owl:Class ; @@ -82001,9 +84091,9 @@ OMIM:209930 a owl:Class ; OMIM:209970 a owl:Class ; rdfs:label "beemer lethal malformation syndrome" ; IAO:0000142 PMID:6507485 ; - oboInOwl:hasDbXref UMLS:C1859526 ; oboInOwl:hasExactSynonym "beemer lethal malformation syndrome", - "hydrocephalus, cardiac malformation, dense bones, etc." . + "hydrocephalus, cardiac malformation, dense bones, etc." ; + skos:exactMatch UMLS:C1859526 . OMIM:210000 a owl:Class ; rdfs:label "behr syndrome" ; @@ -82017,17 +84107,17 @@ OMIM:210000 a owl:Class ; PMID:571977, PMID:6747661, PMID:7538304 ; - oboInOwl:hasDbXref UMLS:C0221061 ; oboInOwl:hasExactSynonym "BEHRS", "behr syndrome", "optic atrophy, infantile hereditary, with neurologic abnormalities" ; + skos:exactMatch UMLS:C0221061 ; biolink:category biolink:Disease . OMIM:210050 a owl:Class ; rdfs:label "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" ; - oboInOwl:hasDbXref UMLS:C1859519 ; oboInOwl:hasExactSynonym "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification", - "cerebral aneurysm-cirrhosis syndrome" . + "cerebral aneurysm-cirrhosis syndrome" ; + skos:exactMatch UMLS:C1859519 . OMIM:210250 a owl:Class ; rdfs:label "sitosterolemia 1" ; @@ -82061,16 +84151,16 @@ OMIM:210250 a owl:Class ; PMID:7258222, PMID:8884563, PMID:9727073 ; - oboInOwl:hasDbXref UMLS:C0342907, - UMLS:C5231390, - ORPHA:101022, - ORPHA:2882 ; oboInOwl:hasExactSynonym "STSL1", "macrothrombocytopenia/stomatocytosis, mediterranean", "phytosterolemia", "sitosterolemia 1", "stsl" ; rdfs:subClassOf OMIMPS:210250 ; + skos:exactMatch UMLS:C0342907, + UMLS:C5231390, + ORPHA:101022, + ORPHA:2882 ; biolink:category biolink:Disease . OMIM:210300 a owl:Class ; @@ -82081,17 +84171,17 @@ OMIM:210350 a owl:Class ; rdfs:label "biemond syndrome 2" ; IAO:0000142 PMID:13109178, PMID:9098485 ; - oboInOwl:hasDbXref UMLS:C1859487 ; - oboInOwl:hasExactSynonym "biemond syndrome 2" . + oboInOwl:hasExactSynonym "biemond syndrome 2" ; + skos:exactMatch UMLS:C1859487 . OMIM:210400 a owl:Class ; rdfs:label "bifid nose, autosomal recessive" ; IAO:0000142 PMID:5845694, PMID:5935148 ; - oboInOwl:hasDbXref UMLS:C3887497 ; oboInOwl:hasExactSynonym "bifid nose, autosomal recessive", "median fissure of nose", - "nose, median cleft of" . + "nose, median cleft of" ; + skos:exactMatch UMLS:C3887497 . OMIM:210450 a owl:Class ; IAO:0100001 OMIM:607765 ; @@ -82110,25 +84200,25 @@ OMIM:210500 a owl:Class ; PMID:4625786, PMID:8456846, PMID:9773428 ; - oboInOwl:hasDbXref UMLS:C4520983 ; oboInOwl:hasExactSynonym "EHBA", "biliary atresia, extrahepatic" ; + skos:exactMatch UMLS:C4520983 ; biolink:category biolink:Disease . OMIM:210550 a owl:Class ; rdfs:label "biliary malformation with renal tubular insufficiency" ; IAO:0000142 PMID:6543856, PMID:8832136 ; - oboInOwl:hasDbXref UMLS:C0400972 ; oboInOwl:hasExactSynonym "biliary malformation with renal tubular insufficiency", - "cholestatic jaundice and renal tubular insufficiency" . + "cholestatic jaundice and renal tubular insufficiency" ; + skos:exactMatch UMLS:C0400972 . OMIM:210700 a owl:Class ; rdfs:label "microcephalic primordial dwarfism, montreal iia" ; IAO:0000142 PMID:5458566 ; - oboInOwl:hasDbXref UMLS:C1859468 ; oboInOwl:hasExactSynonym "bird-headed dwarfism, montreal iia", - "microcephalic primordial dwarfism, montreal iia" . + "microcephalic primordial dwarfism, montreal iia" ; + skos:exactMatch UMLS:C1859468 . OMIM:210730 a owl:Class ; rdfs:label "microcephalic osteodysplastic primordial dwarfism, iia 3" ; @@ -82138,7 +84228,6 @@ OMIM:210730 a owl:Class ; PMID:2764032, PMID:7201239, PMID:8357026 ; - oboInOwl:hasDbXref UMLS:C1859439 ; oboInOwl:hasExactSynonym "microcephalic osteodysplastic primordial dwarfism, iia 3", "microcephalic osteodysplastic primordial dwarfism, caroline crachami iia", "microcephalic osteodysplastic primordial dwarfism, sicilian fairy iia", @@ -82146,30 +84235,31 @@ OMIM:210730 a owl:Class ; "mopd, caroline crachami iia", "mopd, sicilian fairy iia", "osteodysplastic primordial dwarfism, iia 3" ; + skos:exactMatch UMLS:C1859439 ; biolink:category biolink:Disease . OMIM:210740 a owl:Class ; rdfs:label "bangstad syndrome" ; IAO:0000142 PMID:2662702 ; - oboInOwl:hasDbXref UMLS:C0342284 ; oboInOwl:hasExactSynonym "bangstad syndrome", - "bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency" . + "bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency" ; + skos:exactMatch UMLS:C0342284 . OMIM:210745 a owl:Class ; rdfs:label "blepharophimosis with ptosis, syndactyly, and short stature" ; IAO:0000142 PMID:12868474, PMID:1311991 ; - oboInOwl:hasDbXref UMLS:C1859432 ; oboInOwl:hasExactSynonym "blepharophimosis with ptosis, syndactyly, and short stature" ; + skos:exactMatch UMLS:C1859432 ; biolink:category biolink:Disease . OMIM:211000 a owl:Class ; rdfs:label "blue diaper syndrome" ; IAO:0000142 PMID:14246093, PMID:4626127 ; - oboInOwl:hasDbXref UMLS:C0268478 ; oboInOwl:hasExactSynonym "blue diaper syndrome", - "hypercalcemia, familial, with nephrocalcinosis and indicanuria" . + "hypercalcemia, familial, with nephrocalcinosis and indicanuria" ; + skos:exactMatch UMLS:C0268478 . OMIM:211100 a owl:Class ; rdfs:label "FUT1" ; @@ -82184,20 +84274,21 @@ OMIM:211100 a owl:Class ; PMID:9745152 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:616754 ; - oboInOwl:hasDbXref UMLS:C1414862 ; oboInOwl:hasExactSynonym "FUT1", "fucosyltransferase 1", "h antigen", "hh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2523 ; - skos:exactMatch HGNC_symbol:FUT1 ; + skos:exactMatch UMLS:C1414862, + HGNC:4012, + HGNC_symbol:FUT1 ; biolink:category biolink:Gene . OMIM:211120 a owl:Class ; rdfs:label "bone dysplasia, lethal, holmgren iia" ; - oboInOwl:hasDbXref UMLS:C1859407 ; - oboInOwl:hasExactSynonym "bone dysplasia, lethal, holmgren iia" . + oboInOwl:hasExactSynonym "bone dysplasia, lethal, holmgren iia" ; + skos:exactMatch UMLS:C1859407 . OMIM:211170 a owl:Class ; IAO:0100001 OMIM:249420 ; @@ -82206,8 +84297,8 @@ OMIM:211170 a owl:Class ; OMIM:211200 a owl:Class ; rdfs:label "bowen syndrome of multiple malformations" ; IAO:0000142 PMID:14169466 ; - oboInOwl:hasDbXref UMLS:C1859404 ; - oboInOwl:hasExactSynonym "bowen syndrome of multiple malformations" . + oboInOwl:hasExactSynonym "bowen syndrome of multiple malformations" ; + skos:exactMatch UMLS:C1859404 . OMIM:211350 a owl:Class ; rdfs:label "kyphomelic dysplasia" ; @@ -82224,38 +84315,38 @@ OMIM:211350 a owl:Class ; PMID:7573142, PMID:8064826, PMID:948600 ; - oboInOwl:hasDbXref UMLS:C0432239 ; oboInOwl:hasExactSynonym "bowing, congenital, with short bones", "kyphomelic dysplasia" ; + skos:exactMatch UMLS:C0432239 ; biolink:category biolink:Disease . OMIM:211355 a owl:Class ; rdfs:label "bowing of long bones, asymmetric and symmetric" ; IAO:0000142 PMID:8291526 ; - oboInOwl:hasDbXref UMLS:C1859394 ; - oboInOwl:hasExactSynonym "bowing of long bones, asymmetric and symmetric" . + oboInOwl:hasExactSynonym "bowing of long bones, asymmetric and symmetric" ; + skos:exactMatch UMLS:C1859394 . OMIM:211369 a owl:Class ; rdfs:label "brachydactyly, iia a2, with microcephaly" ; - oboInOwl:hasDbXref UMLS:C1859393 ; - oboInOwl:hasExactSynonym "brachydactyly, iia a2, with microcephaly" . + oboInOwl:hasExactSynonym "brachydactyly, iia a2, with microcephaly" ; + skos:exactMatch UMLS:C1859393 . OMIM:211370 a owl:Class ; rdfs:label "brachymetapody-anodontia-hypotrichosis-albinoidism" ; IAO:0000142 PMID:4974459 ; - oboInOwl:hasDbXref UMLS:C1859385 ; oboInOwl:hasExactSynonym "anodontia-hypotrichosis syndrome", "brachymetapody-anodontia-hypotrichosis-albinoidism", - "oculoosteocutaneous syndrome" . + "oculoosteocutaneous syndrome" ; + skos:exactMatch UMLS:C1859385 . OMIM:211390 a owl:Class ; rdfs:label "sabinas brittle hair syndrome" ; IAO:0000142 PMID:15645389, PMID:6492094, PMID:7325159 ; - oboInOwl:hasDbXref UMLS:C0796271 ; oboInOwl:hasExactSynonym "brittle hair and mental deficit", "sabinas brittle hair syndrome" ; + skos:exactMatch UMLS:C0796271 ; biolink:category biolink:Disease . OMIM:211400 a owl:Class ; @@ -82267,11 +84358,11 @@ OMIM:211400 a owl:Class ; PMID:5006763, PMID:6822919, PMID:759057 ; - oboInOwl:hasDbXref UMLS:C2749757 ; oboInOwl:hasExactSynonym "BESC1", "bronchiectasis with or without elevated sweat chloride 1", "cystic fibrosis-like syndrome" ; rdfs:subClassOf OMIMPS:211400 ; + skos:exactMatch UMLS:C2749757 ; biolink:category biolink:Disease . OMIM:211410 a owl:Class ; @@ -82287,9 +84378,9 @@ OMIM:211450 a owl:Class ; PMID:4850901, PMID:5034672, PMID:937831 ; - oboInOwl:hasDbXref UMLS:C0264353 ; oboInOwl:hasExactSynonym "bronchomalacia", - "williams-campbell syndrome" . + "williams-campbell syndrome" ; + skos:exactMatch UMLS:C0264353 . OMIM:211480 a owl:Class ; rdfs:label "buerger disease" ; @@ -82297,18 +84388,18 @@ OMIM:211480 a owl:Class ; PMID:11188842, PMID:6835334, PMID:91227 ; - oboInOwl:hasDbXref UMLS:C0040021 ; oboInOwl:hasExactSynonym "buerger disease", - "thromboangiitis obliterans" . + "thromboangiitis obliterans" ; + skos:exactMatch UMLS:C0040021 . OMIM:211500 a owl:Class ; rdfs:label "fazio-londe disease" ; IAO:0000142 PMID:13900073, PMID:21110228, PMID:7425580 ; - oboInOwl:hasDbXref UMLS:C0015708 ; oboInOwl:hasExactSynonym "bulbar palsy, progressive, of childhood", "fazio-londe disease" ; + skos:exactMatch UMLS:C0015708 ; biolink:category biolink:Disease . OMIM:211550 a owl:Class ; @@ -82318,9 +84409,9 @@ OMIM:211550 a owl:Class ; OMIM:211770 a owl:Class ; rdfs:label "cahmr syndrome" ; IAO:0000142 PMID:1776632 ; - oboInOwl:hasDbXref UMLS:C0796282 ; oboInOwl:hasExactSynonym "cahmr syndrome", - "cataract, hypertrichosis, mental retardation syndrome" . + "cataract, hypertrichosis, mental retardation syndrome" ; + skos:exactMatch UMLS:C0796282 . OMIM:211890 a owl:Class ; rdfs:label "campomelia, cumming iia" ; @@ -82329,23 +84420,23 @@ OMIM:211890 a owl:Class ; PMID:1776641, PMID:3538874, PMID:9415469 ; - oboInOwl:hasDbXref UMLS:C1859371 ; oboInOwl:hasExactSynonym "campomelia, cumming iia", "cervical lymphocele with bowed long bones", "cumming syndrome" ; + skos:exactMatch UMLS:C1859371 ; biolink:category biolink:Disease . OMIM:211920 a owl:Class ; rdfs:label "camptodactyly syndrome, guadalajara, iia 2" ; IAO:0000142 PMID:4040823 ; - oboInOwl:hasDbXref UMLS:C2673861 ; - oboInOwl:hasExactSynonym "camptodactyly syndrome, guadalajara, iia 2" . + oboInOwl:hasExactSynonym "camptodactyly syndrome, guadalajara, iia 2" ; + skos:exactMatch UMLS:C2673861 . OMIM:211930 a owl:Class ; rdfs:label "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" ; IAO:0000142 PMID:5046631 ; - oboInOwl:hasDbXref UMLS:C1859357 ; - oboInOwl:hasExactSynonym "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" . + oboInOwl:hasExactSynonym "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" ; + skos:exactMatch UMLS:C1859357 . OMIM:211960 a owl:Class ; rdfs:label "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" ; @@ -82358,16 +84449,16 @@ OMIM:211960 a owl:Class ; PMID:5046631, PMID:6702893, PMID:933111 ; - oboInOwl:hasDbXref UMLS:C1859356 ; oboInOwl:hasExactSynonym "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases", "tel hashomer camptodactyly syndrome" ; + skos:exactMatch UMLS:C1859356 ; biolink:category biolink:Disease . OMIM:211965 a owl:Class ; rdfs:label "camptodactyly-ichthyosis syndrome" ; IAO:0000142 PMID:6842545 ; - oboInOwl:hasDbXref UMLS:C1859355 ; - oboInOwl:hasExactSynonym "camptodactyly-ichthyosis syndrome" . + oboInOwl:hasExactSynonym "camptodactyly-ichthyosis syndrome" ; + skos:exactMatch UMLS:C1859355 . OMIM:211970 a owl:Class ; IAO:0100001 OMIM:114290 ; @@ -82380,9 +84471,9 @@ OMIM:211990 a owl:Class ; PMID:7438495, PMID:7438503, PMID:948600 ; - oboInOwl:hasDbXref UMLS:C1859354 ; oboInOwl:hasExactSynonym "campomelic syndrome, long-limb iia", - "camptomelic syndrome, long-limb iia" . + "camptomelic syndrome, long-limb iia" ; + skos:exactMatch UMLS:C1859354 . OMIM:212060 a owl:Class ; rdfs:label "carbimazole sensitivity" ; @@ -82391,8 +84482,8 @@ OMIM:212060 a owl:Class ; PMID:3688031, PMID:3739370, PMID:9450891 ; - oboInOwl:hasDbXref UMLS:C1859352 ; - oboInOwl:hasExactSynonym "carbimazole sensitivity" . + oboInOwl:hasExactSynonym "carbimazole sensitivity" ; + skos:exactMatch UMLS:C1859352 . OMIM:212067 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia i/iix" ; @@ -82404,28 +84495,28 @@ OMIM:212067 a owl:Class ; PMID:17663480, PMID:8474612, PMID:9821433 ; - oboInOwl:hasDbXref UMLS:C0349655 ; oboInOwl:hasExactSynonym "cdg-x", - "congenital disorder of glycosylation, iia i/iix" . + "congenital disorder of glycosylation, iia i/iix" ; + skos:exactMatch UMLS:C0349655 . OMIM:212080 a owl:Class ; rdfs:label "cardiac lipidosis, familial" ; IAO:0000142 PMID:4376427, PMID:5667416 ; - oboInOwl:hasDbXref UMLS:C1859332 ; - oboInOwl:hasExactSynonym "cardiac lipidosis, familial" . + oboInOwl:hasExactSynonym "cardiac lipidosis, familial" ; + skos:exactMatch UMLS:C1859332 . OMIM:212090 a owl:Class ; rdfs:label "cardiac septal defects with coarctation of the aorta" ; IAO:0000142 PMID:2929656 ; - oboInOwl:hasDbXref UMLS:C1859331 ; - oboInOwl:hasExactSynonym "cardiac septal defects with coarctation of the aorta" . + oboInOwl:hasExactSynonym "cardiac septal defects with coarctation of the aorta" ; + skos:exactMatch UMLS:C1859331 . OMIM:212100 a owl:Class ; rdfs:label "cardioauditory syndrome of sanchez cascos" ; IAO:0000142 PMID:5006822 ; - oboInOwl:hasDbXref UMLS:C1859329 ; - oboInOwl:hasExactSynonym "cardioauditory syndrome of sanchez cascos" . + oboInOwl:hasExactSynonym "cardioauditory syndrome of sanchez cascos" ; + skos:exactMatch UMLS:C1859329 . OMIM:212110 a owl:Class ; IAO:0100001 OMIM:611880 ; @@ -82438,15 +84529,15 @@ OMIM:212120 a owl:Class ; OMIM:212130 a owl:Class ; rdfs:label "cardiomyopathy associated with myopathy and sudden death" ; IAO:0000142 PMID:513079 ; - oboInOwl:hasDbXref UMLS:C1859328 ; oboInOwl:hasExactSynonym "cardiomyopathy associated with myopathy and sudden death" ; + skos:exactMatch UMLS:C1859328 ; biolink:category biolink:Disease . OMIM:212135 a owl:Class ; rdfs:label "cardioskeletal syndrome, kuwaiti iia" ; IAO:0000142 PMID:2074559 ; - oboInOwl:hasDbXref UMLS:C1859327 ; - oboInOwl:hasExactSynonym "cardioskeletal syndrome, kuwaiti iia" . + oboInOwl:hasExactSynonym "cardioskeletal syndrome, kuwaiti iia" ; + skos:exactMatch UMLS:C1859327 . OMIM:212160 a owl:Class ; rdfs:label "carnitine deficiency, myopathic" ; @@ -82463,8 +84554,8 @@ OMIM:212160 a owl:Class ; PMID:615713, PMID:67353, PMID:742856 ; - oboInOwl:hasDbXref UMLS:C1859318 ; oboInOwl:hasExactSynonym "carnitine deficiency, myopathic" ; + skos:exactMatch UMLS:C1859318 ; biolink:category biolink:Disease . OMIM:212360 a owl:Class ; @@ -82472,16 +84563,16 @@ OMIM:212360 a owl:Class ; IAO:0000142 PMID:20635335, PMID:2529287, PMID:2773993 ; - oboInOwl:hasDbXref UMLS:C1859316 ; oboInOwl:hasExactSynonym "PPKCA2", "cataract-alopecia-sclerodactyly syndrome", "palmoplantar keratoderma and congenital alopecia 2", - "ppkca, wallis iia" . + "ppkca, wallis iia" ; + skos:exactMatch UMLS:C1859316 . OMIM:212400 a owl:Class ; rdfs:label "cataract and congenital ichthyosis" ; - oboInOwl:hasDbXref UMLS:C1859315 ; oboInOwl:hasExactSynonym "cataract and congenital ichthyosis" ; + skos:exactMatch UMLS:C1859315 ; biolink:category biolink:Disease . OMIM:212500 a owl:Class ; @@ -82496,12 +84587,12 @@ OMIM:212500 a owl:Class ; PMID:31061923, PMID:4061486, PMID:5053700 ; - oboInOwl:hasDbXref UMLS:C0220721, - ORPHA:91492 ; oboInOwl:hasExactSynonym "CTRCT46", "cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy", "cataract, juvenile, hutterite iia" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C0220721, + ORPHA:91492 ; biolink:category biolink:Disease . OMIM:212540 a owl:Class ; @@ -82511,12 +84602,12 @@ OMIM:212540 a owl:Class ; PMID:5560051, PMID:671489, PMID:835533 ; - oboInOwl:hasDbXref UMLS:C1859312, - UMLS:C1876169 ; oboInOwl:hasExactSynonym "camak syndrome", "camfak syndrome", "cataract, microcephaly, arthrogryposis, kyphosis syndrome", - "cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" . + "cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" ; + skos:exactMatch UMLS:C1859312, + UMLS:C1876169 . OMIM:212600 a owl:Class ; owl:deprecated true . @@ -82527,9 +84618,9 @@ OMIM:212700 a owl:Class ; OMIM:212710 a owl:Class ; rdfs:label "cataract-ataxia-deafness-retardation syndrome" ; IAO:0000142 PMID:1661780 ; - oboInOwl:hasDbXref UMLS:C0796123 ; oboInOwl:hasExactSynonym "cataract-ataxia-deafness-retardation syndrome", - "polyneuropathy-cataract-deafness syndrome" . + "polyneuropathy-cataract-deafness syndrome" ; + skos:exactMatch UMLS:C0796123 . OMIM:212720 a owl:Class ; rdfs:label "martsolf syndrome 1" ; @@ -82542,12 +84633,12 @@ OMIM:212720 a owl:Class ; PMID:3409931, PMID:4045961, PMID:677168 ; - oboInOwl:hasDbXref UMLS:C0796037 ; oboInOwl:hasExactSynonym "MARTS1", "cataract-mental retardation-hypogonadism", "martsolf syndrome", "martsolf syndrome 1" ; rdfs:subClassOf OMIMPS:212720 ; + skos:exactMatch UMLS:C0796037 ; biolink:category biolink:Disease . OMIM:212780 a owl:Class ; @@ -82560,12 +84651,12 @@ OMIM:212780 a owl:Class ; PMID:20381006, PMID:6279340, PMID:9182770 ; - oboInOwl:hasDbXref UMLS:C1859309 ; oboInOwl:hasExactSynonym "CLSS", "cenani syndactylism", "cenani-lenz syndactyly", "cenani-lenz syndactyly syndrome", "syndactyly, iia 7" ; + skos:exactMatch UMLS:C1859309 ; biolink:category biolink:Disease . OMIM:212790 a owl:Class ; @@ -82574,38 +84665,38 @@ OMIM:212790 a owl:Class ; PMID:1190734, PMID:15098246, PMID:77211 ; - oboInOwl:hasDbXref UMLS:C1859308 ; oboInOwl:hasExactSynonym "PCD", "premature centromere division", "x-chromosome centromere peculiarity" ; + skos:exactMatch UMLS:C1859308 ; biolink:category biolink:Disease . OMIM:212800 a owl:Class ; rdfs:label "cephalin lipidosis" ; IAO:0000142 PMID:13339281 ; - oboInOwl:hasDbXref UMLS:C1859307 ; - oboInOwl:hasExactSynonym "cephalin lipidosis" . + oboInOwl:hasExactSynonym "cephalin lipidosis" ; + skos:exactMatch UMLS:C1859307 . OMIM:212835 a owl:Class ; rdfs:label "cerebellar ataxia and ectodermal dysplasia" ; IAO:0000142 PMID:13200974, PMID:7328612, PMID:8326497 ; - oboInOwl:hasDbXref UMLS:C1859306 ; - oboInOwl:hasExactSynonym "cerebellar ataxia and ectodermal dysplasia" . + oboInOwl:hasExactSynonym "cerebellar ataxia and ectodermal dysplasia" ; + skos:exactMatch UMLS:C1859306 . OMIM:212850 a owl:Class ; rdfs:label "cerebellar ataxia and neurosensory deafness" ; IAO:0000142 PMID:4434656 ; - oboInOwl:hasDbXref UMLS:C1859304 ; - oboInOwl:hasExactSynonym "cerebellar ataxia and neurosensory deafness" . + oboInOwl:hasExactSynonym "cerebellar ataxia and neurosensory deafness" ; + skos:exactMatch UMLS:C1859304 . OMIM:212890 a owl:Class ; rdfs:label "cerebellar ataxia, benign, with thermoanalgesia" ; IAO:0000142 PMID:2168779 ; - oboInOwl:hasDbXref UMLS:C1859303 ; oboInOwl:hasExactSynonym "cerebellar ataxia with loss of pain and temperature sensation", - "cerebellar ataxia, benign, with thermoanalgesia" . + "cerebellar ataxia, benign, with thermoanalgesia" ; + skos:exactMatch UMLS:C1859303 . OMIM:212895 a owl:Class ; rdfs:label "cerebellar ataxia, early-onset, with retained tendon reflexes" ; @@ -82615,9 +84706,9 @@ OMIM:212895 a owl:Class ; PMID:7276963, PMID:8330454, PMID:9686785 ; - oboInOwl:hasDbXref UMLS:C0393520 ; oboInOwl:hasExactSynonym "EOCA", "cerebellar ataxia, early-onset, with retained tendon reflexes" ; + skos:exactMatch UMLS:C0393520 ; biolink:category biolink:Disease . OMIM:212900 a owl:Class ; @@ -82633,8 +84724,8 @@ OMIM:213002 a owl:Class ; PMID:1776639, PMID:3729252 ; IAO:0100001 OMIM:614381 ; - oboInOwl:hasDbXref UMLS:C1859301 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1859301 . OMIM:213010 a owl:Class ; rdfs:label "cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome" ; @@ -82643,14 +84734,14 @@ OMIM:213010 a owl:Class ; PMID:3812585, PMID:4430157, PMID:6859094 ; - oboInOwl:hasDbXref UMLS:C1859300 ; - oboInOwl:hasExactSynonym "cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome" . + oboInOwl:hasExactSynonym "cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome" ; + skos:exactMatch UMLS:C1859300 . OMIM:213100 a owl:Class ; IAO:0000142 PMID:426487 ; IAO:0100001 OMIM:607136 ; - oboInOwl:hasDbXref UMLS:C1859299 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1859299 . OMIM:213300 a owl:Class ; rdfs:label "joubert syndrome 1" ; @@ -82684,9 +84775,6 @@ OMIM:213300 a owl:Class ; PMID:729929, PMID:7439204, PMID:9295076 ; - oboInOwl:hasDbXref UMLS:C0431399, - UMLS:C4551568, - ORPHA:475 ; oboInOwl:hasExactSynonym "JBTS1", "cerebellooculorenal syndrome 1", "cerebelloparenchymal disorder 4", @@ -82694,31 +84782,34 @@ OMIM:213300 a owl:Class ; "joubert syndrome 1", "joubert-boltshauser syndrome" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C0431399, + UMLS:C4551568, + ORPHA:475 ; biolink:category biolink:Disease . OMIM:213500 a owl:Class ; rdfs:label "cerebral angiopathy, dysphoric" ; - oboInOwl:hasDbXref UMLS:C1859283 ; - oboInOwl:hasExactSynonym "cerebral angiopathy, dysphoric" . + oboInOwl:hasExactSynonym "cerebral angiopathy, dysphoric" ; + skos:exactMatch UMLS:C1859283 . OMIM:213820 a owl:Class ; rdfs:label "cerebral malformation, seizures, hypertrichosis, and overlapping fingers" ; IAO:0000142 PMID:8266998 ; - oboInOwl:hasDbXref UMLS:C1859259 ; - oboInOwl:hasExactSynonym "cerebral malformation, seizures, hypertrichosis, and overlapping fingers" . + oboInOwl:hasExactSynonym "cerebral malformation, seizures, hypertrichosis, and overlapping fingers" ; + skos:exactMatch UMLS:C1859259 . OMIM:213900 a owl:Class ; rdfs:label "cerebral sclerosis similar to pelizaeus-merzbacher disease" ; IAO:0000142 PMID:5767611 ; - oboInOwl:hasDbXref UMLS:C1859258 ; - oboInOwl:hasExactSynonym "cerebral sclerosis similar to pelizaeus-merzbacher disease" . + oboInOwl:hasExactSynonym "cerebral sclerosis similar to pelizaeus-merzbacher disease" ; + skos:exactMatch UMLS:C1859258 . OMIM:213950 a owl:Class ; rdfs:label "cerebrocortical degeneration of infancy" ; IAO:0000142 PMID:5721929, PMID:6069223 ; - oboInOwl:hasDbXref UMLS:C1859257 ; - oboInOwl:hasExactSynonym "cerebrocortical degeneration of infancy" . + oboInOwl:hasExactSynonym "cerebrocortical degeneration of infancy" ; + skos:exactMatch UMLS:C1859257 . OMIM:214100 a owl:Class ; rdfs:label "peroxisome biogenesis disorder 1a (zellweger)" ; @@ -82787,10 +84878,6 @@ OMIM:214100 a owl:Class ; PMID:9398847, PMID:9398848, PMID:9539740 ; - oboInOwl:hasDbXref UMLS:C0043459, - UMLS:C1865803, - UMLS:C1865804, - UMLS:C4721541 ; oboInOwl:hasExactSynonym "PBD1A", "cerebrohepatorenal syndrome", "peroxisome biogenesis disorder 1a (zellweger)", @@ -82798,6 +84885,10 @@ OMIM:214100 a owl:Class ; "peroxisome biogenesis disorder, complementation group e", "zs" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C0043459, + UMLS:C1865803, + UMLS:C1865804, + UMLS:C4721541 ; biolink:category biolink:Disease . OMIM:214110 a owl:Class ; @@ -82806,12 +84897,12 @@ OMIM:214110 a owl:Class ; PMID:17055079, PMID:2454948, PMID:7719337 ; - oboInOwl:hasDbXref UMLS:C3550273, - UMLS:C3550274 ; oboInOwl:hasExactSynonym "PBD2A", "peroxisome biogenesis disorder 2a (zellweger)", "peroxisome biogenesis disorder, complementation group 2" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3550273, + UMLS:C3550274 ; biolink:category biolink:Disease . OMIM:214150 a owl:Class ; @@ -82833,14 +84924,14 @@ OMIM:214150 a owl:Class ; PMID:9001808, PMID:9329459, PMID:97035 ; - oboInOwl:hasDbXref UMLS:C0220722, - ORPHA:1466, - ORPHA:191 ; oboInOwl:hasExactSynonym "COFS1", "cerebrooculofacioskeletal syndrome 1", "cofs syndrome", "pena-shokeir syndrome, iia 2" ; rdfs:subClassOf OMIMPS:214150 ; + skos:exactMatch UMLS:C0220722, + ORPHA:1466, + ORPHA:191 ; biolink:category biolink:Disease . OMIM:214200 a owl:Class ; @@ -82850,8 +84941,8 @@ OMIM:214200 a owl:Class ; OMIM:214290 a owl:Class ; rdfs:label "cervical vertebrae, agenesis of" ; IAO:0000142 PMID:3403625 ; - oboInOwl:hasDbXref UMLS:C0432160 ; - oboInOwl:hasExactSynonym "cervical vertebrae, agenesis of" . + oboInOwl:hasExactSynonym "cervical vertebrae, agenesis of" ; + skos:exactMatch UMLS:C0432160 . OMIM:214350 a owl:Class ; rdfs:label "chand syndrome" ; @@ -82861,10 +84952,10 @@ OMIM:214350 a owl:Class ; PMID:28940926, PMID:490586, PMID:8209899 ; - oboInOwl:hasDbXref UMLS:C0406733 ; oboInOwl:hasExactSynonym "CHANDS", "chand syndrome", "curly hair-ankyloblepharon-nail dysplasia syndrome" ; + skos:exactMatch UMLS:C0406733 ; biolink:category biolink:Disease . OMIM:214370 a owl:Class ; @@ -82872,10 +84963,10 @@ OMIM:214370 a owl:Class ; IAO:0000142 PMID:1506851, PMID:6705250, PMID:9475604 ; - oboInOwl:hasDbXref UMLS:C1861669 ; oboInOwl:hasExactSynonym "charcot-marie-tooth disease and deafness", "deafness with charcot-marie-tooth disease", "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers" ; + skos:exactMatch UMLS:C1861669 ; biolink:category biolink:Disease . OMIM:214380 a owl:Class ; @@ -82885,13 +84976,13 @@ OMIM:214380 a owl:Class ; OMIM:214980 a owl:Class ; rdfs:label "cholestasis with gallstone, ataxia, and visual disturbance" ; IAO:0000142 PMID:7112542 ; - oboInOwl:hasDbXref UMLS:C1859161 ; - oboInOwl:hasExactSynonym "cholestasis with gallstone, ataxia, and visual disturbance" . + oboInOwl:hasExactSynonym "cholestasis with gallstone, ataxia, and visual disturbance" ; + skos:exactMatch UMLS:C1859161 . OMIM:215030 a owl:Class ; rdfs:label "cholesterol pneumonia" ; - oboInOwl:hasDbXref UMLS:C0549472 ; - oboInOwl:hasExactSynonym "cholesterol pneumonia" . + oboInOwl:hasExactSynonym "cholesterol pneumonia" ; + skos:exactMatch UMLS:C0549472 . OMIM:215045 a owl:Class ; rdfs:label "chondrodysplasia, blomstrand iia" ; @@ -82904,23 +84995,23 @@ OMIM:215045 a owl:Class ; PMID:9415697, PMID:9649554, PMID:9745456 ; - oboInOwl:hasDbXref UMLS:C1859148 ; oboInOwl:hasExactSynonym "BOCD", "chondrodysplasia, blomstrand iia" ; + skos:exactMatch UMLS:C1859148 ; biolink:category biolink:Disease . OMIM:215050 a owl:Class ; rdfs:label "chondrodysplasia calcificans metaphysealis" ; IAO:0000142 PMID:4256065 ; - oboInOwl:hasDbXref UMLS:C1859147 ; - oboInOwl:hasExactSynonym "chondrodysplasia calcificans metaphysealis" . + oboInOwl:hasExactSynonym "chondrodysplasia calcificans metaphysealis" ; + skos:exactMatch UMLS:C1859147 . OMIM:215105 a owl:Class ; rdfs:label "chondrodysplasia punctata syndrome" ; IAO:0000142 PMID:8267015, PMID:9450859 ; - oboInOwl:hasDbXref UMLS:C1859132 ; - oboInOwl:hasExactSynonym "chondrodysplasia punctata syndrome" . + oboInOwl:hasExactSynonym "chondrodysplasia punctata syndrome" ; + skos:exactMatch UMLS:C1859132 . OMIM:215140 a owl:Class ; rdfs:label "greenberg dysplasia" ; @@ -82934,20 +85025,20 @@ OMIM:215140 a owl:Class ; PMID:21327084, PMID:3377005, PMID:8213919 ; - oboInOwl:hasDbXref UMLS:C2931048 ; oboInOwl:hasExactSynonym "GRBGD", "chondrodystrophy, hydropic and prenatally lethal iia", "greenberg dysplasia", "hem skeletal dysplasia", "hydrops-ectopic calcification-moth-eaten skeletal dysplasia", "moth-eaten skeletal dysplasia" ; + skos:exactMatch UMLS:C2931048 ; biolink:category biolink:Disease . OMIM:215250 a owl:Class ; rdfs:label "chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome" ; IAO:0000142 PMID:4106927 ; - oboInOwl:hasDbXref UMLS:C1859104 ; - oboInOwl:hasExactSynonym "chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome" . + oboInOwl:hasExactSynonym "chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome" ; + skos:exactMatch UMLS:C1859104 . OMIM:215300 a owl:Class ; rdfs:label "chondrosarcoma" ; @@ -82955,9 +85046,9 @@ OMIM:215300 a owl:Class ; PMID:6015756, PMID:7726168, PMID:8981950 ; - oboInOwl:hasDbXref UMLS:C0008479, - ORPHA:55880 ; oboInOwl:hasExactSynonym "chondrosarcoma" ; + skos:exactMatch UMLS:C0008479, + ORPHA:55880 ; biolink:category biolink:Disease . OMIM:215400 a owl:Class ; @@ -82971,9 +85062,9 @@ OMIM:215400 a owl:Class ; PMID:23064415, PMID:9475610 ; RO:0002525 CHR:9606chr6q27 ; - oboInOwl:hasDbXref UMLS:C0008487 ; oboInOwl:hasExactSynonym "CHDM", "chordoma, susceptibility to" ; + skos:exactMatch UMLS:C0008487 ; biolink:category biolink:Disease . OMIM:215450 a owl:Class ; @@ -82981,8 +85072,8 @@ OMIM:215450 a owl:Class ; IAO:0000142 PMID:4243813, PMID:4269386, PMID:883778 ; - oboInOwl:hasDbXref UMLS:C1859098 ; - oboInOwl:hasExactSynonym "chorea, benign familial" . + oboInOwl:hasExactSynonym "chorea, benign familial" ; + skos:exactMatch UMLS:C1859098 . OMIM:215470 a owl:Class ; rdfs:label "boucher-neuhauser syndrome" ; @@ -82995,18 +85086,18 @@ OMIM:215470 a owl:Class ; PMID:5806782, PMID:7639308, PMID:9321767 ; - oboInOwl:hasDbXref UMLS:C1859093 ; oboInOwl:hasExactSynonym "BNHS", "boucher-neuhauser syndrome", "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy" ; + skos:exactMatch UMLS:C1859093 ; biolink:category biolink:Disease . OMIM:215480 a owl:Class ; rdfs:label "choroid plexus calcification and mental retardation" ; IAO:0000142 PMID:315525, PMID:8232964 ; - oboInOwl:hasDbXref UMLS:C1859092 ; - oboInOwl:hasExactSynonym "choroid plexus calcification and mental retardation" . + oboInOwl:hasExactSynonym "choroid plexus calcification and mental retardation" ; + skos:exactMatch UMLS:C1859092 . OMIM:215500 a owl:Class ; rdfs:label "choroidal dystrophy, central areolar, 1" ; @@ -83018,19 +85109,19 @@ OMIM:215500 a owl:Class ; PMID:5315093, PMID:8733141, PMID:9733038 ; - oboInOwl:hasDbXref UMLS:C1536451, - UMLS:C4551884 ; oboInOwl:hasExactSynonym "CACD1", "choroidal dystrophy, central areolar", "choroidal dystrophy, central areolar, 1", "choroidal sclerosis" ; rdfs:subClassOf OMIMPS:215500 ; + skos:exactMatch UMLS:C1536451, + UMLS:C4551884 ; biolink:category biolink:Disease . OMIM:215510 a owl:Class ; rdfs:label "chromosomal instability with tissue-specific radiosensitivity" ; - oboInOwl:hasDbXref UMLS:C1859091 ; - oboInOwl:hasExactSynonym "chromosomal instability with tissue-specific radiosensitivity" . + oboInOwl:hasExactSynonym "chromosomal instability with tissue-specific radiosensitivity" ; + skos:exactMatch UMLS:C1859091 . OMIM:215518 a owl:Class ; rdfs:label "ciliary discoordination due to random ciliary orientation" ; @@ -83038,28 +85129,28 @@ OMIM:215518 a owl:Class ; PMID:2738166, PMID:6648876, PMID:6965574 ; - oboInOwl:hasDbXref UMLS:C0340038 ; oboInOwl:hasExactSynonym "ciliary discoordination due to random ciliary orientation", - "rutland ciliary disorientation syndrome" . + "rutland ciliary disorientation syndrome" ; + skos:exactMatch UMLS:C0340038 . OMIM:215520 a owl:Class ; rdfs:label "ciliary dyskinesia with transposition of ciliary microtubules" ; IAO:0000142 PMID:7383126 ; - oboInOwl:hasDbXref UMLS:C2673817 ; oboInOwl:hasExactSynonym "ciliary dyskinesia with transposition of ciliary microtubules" ; + skos:exactMatch UMLS:C2673817 ; biolink:category biolink:Disease . OMIM:215550 a owl:Class ; rdfs:label "circumvallate placenta syndrome" ; IAO:0000142 PMID:4608262 ; - oboInOwl:hasDbXref UMLS:C1859089 ; - oboInOwl:hasExactSynonym "circumvallate placenta syndrome" . + oboInOwl:hasExactSynonym "circumvallate placenta syndrome" ; + skos:exactMatch UMLS:C1859089 . OMIM:215720 a owl:Class ; rdfs:label "citrulline transport defect" ; IAO:0000142 PMID:4729820 ; - oboInOwl:hasDbXref UMLS:C1859084 ; - oboInOwl:hasExactSynonym "citrulline transport defect" . + oboInOwl:hasExactSynonym "citrulline transport defect" ; + skos:exactMatch UMLS:C1859084 . OMIM:215800 a owl:Class ; rdfs:label "cleft larynx, posterior" ; @@ -83072,17 +85163,17 @@ OMIM:215800 a owl:Class ; PMID:7211952, PMID:7296939, PMID:7717756 ; - oboInOwl:hasDbXref UMLS:C0858233, - UMLS:C1859083 ; oboInOwl:hasExactSynonym "cleft larynx, posterior", - "stridor, congenital" . + "stridor, congenital" ; + skos:exactMatch UMLS:C0858233, + UMLS:C1859083 . OMIM:215850 a owl:Class ; rdfs:label "cleft-limb-heart malformation syndrome" ; IAO:0000142 PMID:7324930 ; - oboInOwl:hasDbXref UMLS:C1859082 ; oboInOwl:hasExactSynonym "cleft-limb-heart malformation syndrome", - "clh syndrome" . + "clh syndrome" ; + skos:exactMatch UMLS:C1859082 . OMIM:216100 a owl:Class ; rdfs:label "juberg-hayward syndrome" ; @@ -83093,24 +85184,24 @@ OMIM:216100 a owl:Class ; PMID:5778829, PMID:6278147, PMID:7138070 ; - oboInOwl:hasDbXref UMLS:C0796099 ; oboInOwl:hasExactSynonym "JHS", "cleft lip/palate with abnormal thumbs and microcephaly", "cleft lip/palate with radial head and digital anomalies", "juberg-hayward syndrome", "orocraniodigital syndrome" ; + skos:exactMatch UMLS:C0796099 ; biolink:category biolink:Disease . OMIM:216300 a owl:Class ; rdfs:label "cleft palate, deafness, and oligodontia" ; - oboInOwl:hasDbXref UMLS:C1859081 ; - oboInOwl:hasExactSynonym "cleft palate, deafness, and oligodontia" . + oboInOwl:hasExactSynonym "cleft palate, deafness, and oligodontia" ; + skos:exactMatch UMLS:C1859081 . OMIM:216330 a owl:Class ; rdfs:label "cleidocranial dysplasia, recessive form" ; IAO:0000142 PMID:1149318 ; - oboInOwl:hasDbXref UMLS:C1859080 ; - oboInOwl:hasExactSynonym "cleidocranial dysplasia, recessive form" . + oboInOwl:hasExactSynonym "cleidocranial dysplasia, recessive form" ; + skos:exactMatch UMLS:C1859080 . OMIM:216360 a owl:Class ; rdfs:label "coach syndrome 1" ; @@ -83122,14 +85213,14 @@ OMIM:216360 a owl:Class ; PMID:7410112, PMID:8669436, PMID:8862632 ; - oboInOwl:hasDbXref UMLS:C1857662, - UMLS:C5435651, - ORPHA:1454 ; oboInOwl:hasExactSynonym "COACH1", "cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis", "coach syndrome", "coach syndrome 1", "joubert syndrome with congenital hepatic fibrosis" ; + skos:exactMatch UMLS:C1857662, + UMLS:C5435651, + ORPHA:1454 ; biolink:category biolink:Disease . OMIM:216411 a owl:Class ; @@ -83143,16 +85234,16 @@ OMIM:216700 a owl:Class ; PMID:4425618, PMID:4425619, PMID:7053490 ; - oboInOwl:hasDbXref UMLS:C1857624 ; oboInOwl:hasExactSynonym "RPC", "collagenosis, familial reactive perforating" ; + skos:exactMatch UMLS:C1857624 ; biolink:category biolink:Disease . OMIM:216800 a owl:Class ; rdfs:label "coloboma of macula and skeletal anomalies" ; IAO:0000142 PMID:4977272 ; - oboInOwl:hasDbXref UMLS:C1857619 ; - oboInOwl:hasExactSynonym "coloboma of macula and skeletal anomalies" . + oboInOwl:hasExactSynonym "coloboma of macula and skeletal anomalies" ; + skos:exactMatch UMLS:C1857619 . OMIM:216920 a owl:Class ; IAO:0100001 OMIM:615816 ; @@ -83165,9 +85256,9 @@ OMIM:216950 a owl:Class ; PMID:455800, PMID:4623164, PMID:737019 ; - oboInOwl:hasDbXref UMLS:C3150274 ; oboInOwl:hasExactSynonym "c1r/c1s deficiency", "complement component c1r/c1s deficiency" ; + skos:exactMatch UMLS:C3150274 ; biolink:category biolink:Disease . OMIM:217000 a owl:Class ; @@ -83213,10 +85304,10 @@ OMIM:217000 a owl:Class ; PMID:860727, PMID:8621452, PMID:993342 ; - oboInOwl:hasDbXref UMLS:C3150275 ; oboInOwl:hasExactSynonym "C2D", "c2 deficiency", "complement component 2 deficiency" ; + skos:exactMatch UMLS:C3150275 ; biolink:category biolink:Disease . OMIM:217030 a owl:Class ; @@ -83241,7 +85332,6 @@ OMIM:217030 a owl:Class ; PMID:8613545 ; RO:0002525 CHR:9606chr4q25 ; RO:0003303 OMIM:615439 ; - oboInOwl:hasDbXref UMLS:C1442484 ; oboInOwl:hasExactSynonym "CFI", "c3b inactivator", "complement component 1", @@ -83249,7 +85339,9 @@ OMIM:217030 a owl:Class ; "factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3426 ; - skos:exactMatch HGNC_symbol:CFI ; + skos:exactMatch UMLS:C1442484, + HGNC:5394, + HGNC_symbol:CFI ; biolink:category biolink:Gene . OMIM:217050 a owl:Class ; @@ -83287,12 +85379,13 @@ OMIM:217050 a owl:Class ; PMID:9472666, PMID:9856498 ; RO:0002525 CHR:9606chr5p13.1 ; - oboInOwl:hasDbXref UMLS:C1413014 ; oboInOwl:hasExactSynonym "C6", "complement component 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729 ; - skos:exactMatch HGNC_symbol:C6 ; + skos:exactMatch UMLS:C1413014, + HGNC:1339, + HGNC_symbol:C6 ; biolink:category biolink:Gene . OMIM:217070 a owl:Class ; @@ -83317,14 +85410,15 @@ OMIM:217070 a owl:Class ; PMID:9856499 ; RO:0002525 CHR:9606chr5p13.1 ; RO:0003303 OMIM:610102 ; - oboInOwl:hasDbXref UMLS:C1413019, - UMLS:C1864694, - UMLS:C4017564 ; oboInOwl:hasExactSynonym "C7", "complement component 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:730 ; - skos:exactMatch HGNC_symbol:C7 ; + skos:exactMatch UMLS:C1413019, + UMLS:C1864694, + UMLS:C4017564, + HGNC:1346, + HGNC_symbol:C7 ; biolink:category biolink:Gene . OMIM:217100 a owl:Class ; @@ -83344,31 +85438,31 @@ OMIM:217100 a owl:Class ; PMID:6829612, PMID:6869458, PMID:7202044 ; - oboInOwl:hasDbXref UMLS:C0220724, - UMLS:C1857577, - UMLS:C1857578, - UMLS:C1857583 ; oboInOwl:hasExactSynonym "adam complex", "amniotic band sequence", "amputation, congenital", "constricting bands, congenital", "streeter anomaly", "terminal transverse defects of arm" ; + skos:exactMatch UMLS:C0220724, + UMLS:C1857577, + UMLS:C1857578, + UMLS:C1857583 ; biolink:category biolink:Disease . OMIM:217150 a owl:Class ; rdfs:label "contractures, congenital, torticollis, and malignant hyperthermia" ; IAO:0000142 PMID:3346884, PMID:3621655 ; - oboInOwl:hasDbXref UMLS:C1857576 ; - oboInOwl:hasExactSynonym "contractures, congenital, torticollis, and malignant hyperthermia" . + oboInOwl:hasExactSynonym "contractures, congenital, torticollis, and malignant hyperthermia" ; + skos:exactMatch UMLS:C1857576 . OMIM:217200 a owl:Class ; rdfs:label "convulsive disorder, familial, with prenatal or early onset" ; IAO:0000142 PMID:13762790, PMID:6024470 ; - oboInOwl:hasDbXref UMLS:C1857575 ; - oboInOwl:hasExactSynonym "convulsive disorder, familial, with prenatal or early onset" . + oboInOwl:hasExactSynonym "convulsive disorder, familial, with prenatal or early onset" ; + skos:exactMatch UMLS:C1857575 . OMIM:217400 a owl:Class ; rdfs:label "corneal dystrophy and perceptive deafness" ; @@ -83378,20 +85472,20 @@ OMIM:217400 a owl:Class ; PMID:9228245, PMID:9695093, PMID:9805138 ; - oboInOwl:hasDbXref UMLS:C1857572, - ORPHA:1490 ; oboInOwl:hasExactSynonym "CDPD", "cdpd1", "corneal dystrophy and perceptive deafness", "corneal dystrophy and sensorineural deafness", "harboyan syndrome" ; + skos:exactMatch UMLS:C1857572, + ORPHA:1490 ; biolink:category biolink:Disease . OMIM:217500 a owl:Class ; rdfs:label "corneal dystrophy, band-shaped" ; - oboInOwl:hasDbXref UMLS:C0155120 ; oboInOwl:hasExactSynonym "band keratopathy", "corneal dystrophy, band-shaped" ; + skos:exactMatch UMLS:C0155120 ; biolink:category biolink:Disease . OMIM:217520 a owl:Class ; @@ -83399,15 +85493,15 @@ OMIM:217520 a owl:Class ; IAO:0000142 PMID:304690, PMID:6609643, PMID:6981369 ; - oboInOwl:hasDbXref UMLS:C1857571 ; - oboInOwl:hasExactSynonym "corneal degeneration, band-shaped spheroid" . + oboInOwl:hasExactSynonym "corneal degeneration, band-shaped spheroid" ; + skos:exactMatch UMLS:C1857571 . OMIM:217600 a owl:Class ; rdfs:label "central cloudy dystrophy of francois" ; - oboInOwl:hasDbXref UMLS:C1622427 ; oboInOwl:hasExactSynonym "CCDF", "central cloudy dystrophy of francois", - "corneal dystrophy, central iia" . + "corneal dystrophy, central iia" ; + skos:exactMatch UMLS:C1622427 . OMIM:217980 a owl:Class ; rdfs:label "corpus callosum, agenesis of, with facial anomalies and robin sequence" ; @@ -83426,9 +85520,9 @@ OMIM:217980 a owl:Class ; PMID:27510950, PMID:3223497, PMID:8923938 ; - oboInOwl:hasDbXref UMLS:C0796184 ; oboInOwl:hasExactSynonym "corpus callosum, agenesis of, with facial anomalies and robin sequence", "toriello-carey syndrome" ; + skos:exactMatch UMLS:C0796184 ; biolink:category biolink:Disease . OMIM:217990 a owl:Class ; @@ -83447,16 +85541,16 @@ OMIM:217990 a owl:Class ; PMID:9056551, PMID:9560954, PMID:9863602 ; - oboInOwl:hasDbXref UMLS:C0175754 ; oboInOwl:hasExactSynonym "acc", "corpus callosum, agenesis of" ; + skos:exactMatch UMLS:C0175754 ; biolink:category biolink:Disease . OMIM:218010 a owl:Class ; rdfs:label "cortical blindness, retardation, and postaxial polydactyly" ; IAO:0000142 PMID:4064363 ; - oboInOwl:hasDbXref UMLS:C1857568 ; - oboInOwl:hasExactSynonym "cortical blindness, retardation, and postaxial polydactyly" . + oboInOwl:hasExactSynonym "cortical blindness, retardation, and postaxial polydactyly" ; + skos:exactMatch UMLS:C1857568 . OMIM:218040 a owl:Class ; rdfs:label "costello syndrome" ; @@ -83546,51 +85640,51 @@ OMIM:218040 a owl:Class ; PMID:9738731, PMID:9863604, PMID:9934987 ; - oboInOwl:hasDbXref UMLS:C0587248, - UMLS:C1968782, - ORPHA:3071 ; oboInOwl:hasExactSynonym "CSTLO", "costello syndrome", "faciocutaneoskeletal syndrome", "fcs syndrome", "myopathy, congenital, with excess of muscle spindles" ; + skos:exactMatch UMLS:C0587248, + UMLS:C1968782, + ORPHA:3071 ; biolink:category biolink:Disease . OMIM:218050 a owl:Class ; rdfs:label "cramps, familial adolescent" ; IAO:0000142 PMID:1169703 ; - oboInOwl:hasDbXref UMLS:C1857533 ; - oboInOwl:hasExactSynonym "cramps, familial adolescent" . + oboInOwl:hasExactSynonym "cramps, familial adolescent" ; + skos:exactMatch UMLS:C1857533 . OMIM:218090 a owl:Class ; rdfs:label "crane-heise syndrome" ; IAO:0000142 PMID:12673651, PMID:7267231, PMID:7894742 ; - oboInOwl:hasDbXref UMLS:C1857532 ; oboInOwl:hasExactSynonym "cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus", - "crane-heise syndrome" . + "crane-heise syndrome" ; + skos:exactMatch UMLS:C1857532 . OMIM:218100 a owl:Class ; rdfs:label "cranial nerves, congenital paresis of" ; - oboInOwl:hasDbXref UMLS:C1857531 ; oboInOwl:hasExactSynonym "cranial nerves, congenital paresis of" ; + skos:exactMatch UMLS:C1857531 ; biolink:category biolink:Disease . OMIM:218200 a owl:Class ; rdfs:label "cranial nerves, recurrent paresis of" ; IAO:0000142 PMID:5418401 ; - oboInOwl:hasDbXref UMLS:C1857530 ; - oboInOwl:hasExactSynonym "cranial nerves, recurrent paresis of" . + oboInOwl:hasExactSynonym "cranial nerves, recurrent paresis of" ; + skos:exactMatch UMLS:C1857530 . OMIM:218300 a owl:Class ; rdfs:label "craniodiaphyseal dysplasia" ; IAO:0000142 PMID:18135657, PMID:2277386, PMID:4823202 ; - oboInOwl:hasDbXref UMLS:C0410539 ; oboInOwl:hasExactSynonym "CDD", - "craniodiaphyseal dysplasia" . + "craniodiaphyseal dysplasia" ; + skos:exactMatch UMLS:C0410539 . OMIM:218350 a owl:Class ; rdfs:label "craniofacial dyssynostosis with short stature" ; @@ -83602,9 +85696,9 @@ OMIM:218350 a owl:Class ; PMID:954768, PMID:9738859, PMID:9738860 ; - oboInOwl:hasDbXref UMLS:C1857511 ; oboInOwl:hasExactSynonym "bilateral lambdoid and sagittal synostosis", - "craniofacial dyssynostosis with short stature" . + "craniofacial dyssynostosis with short stature" ; + skos:exactMatch UMLS:C1857511 . OMIM:218400 a owl:Class ; rdfs:label "craniometaphyseal dysplasia, autosomal recessive" ; @@ -83619,10 +85713,10 @@ OMIM:218400 a owl:Class ; PMID:7395899, PMID:9382103, PMID:9508244 ; - oboInOwl:hasDbXref UMLS:C2931244 ; oboInOwl:hasExactSynonym "CMDR", "craniometaphyseal dysplasia, autosomal recessive" ; rdfs:subClassOf OMIMPS:123000 ; + skos:exactMatch UMLS:C2931244 ; biolink:category biolink:Disease . OMIM:218450 a owl:Class ; @@ -83631,9 +85725,9 @@ OMIM:218450 a owl:Class ; PMID:3582410, PMID:8592338, PMID:9415478 ; - oboInOwl:hasDbXref UMLS:C1857495 ; oboInOwl:hasExactSynonym "craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis", - "pfeiffer cardiocranial syndrome" . + "pfeiffer cardiocranial syndrome" ; + skos:exactMatch UMLS:C1857495 . OMIM:218455 a owl:Class ; IAO:0100001 OMIM:251200 ; @@ -83647,15 +85741,15 @@ OMIM:218500 a owl:Class ; OMIM:218530 a owl:Class ; rdfs:label "craniosynostosis with anomalies of the cranial base and digits" ; IAO:0000142 PMID:7444800 ; - oboInOwl:hasDbXref UMLS:C1857493 ; - oboInOwl:hasExactSynonym "craniosynostosis with anomalies of the cranial base and digits" . + oboInOwl:hasExactSynonym "craniosynostosis with anomalies of the cranial base and digits" ; + skos:exactMatch UMLS:C1857493 . OMIM:218550 a owl:Class ; rdfs:label "craniosynostosis with fibular aplasia" ; IAO:0000142 PMID:4403018, PMID:8100584 ; - oboInOwl:hasDbXref UMLS:C1857492 ; - oboInOwl:hasExactSynonym "craniosynostosis with fibular aplasia" . + oboInOwl:hasExactSynonym "craniosynostosis with fibular aplasia" ; + skos:exactMatch UMLS:C1857492 . OMIM:218600 a owl:Class ; rdfs:label "baller-gerold syndrome" ; @@ -83681,33 +85775,33 @@ OMIM:218600 a owl:Class ; PMID:8741920, PMID:8741921, PMID:9934984 ; - oboInOwl:hasDbXref UMLS:C0265308 ; oboInOwl:hasExactSynonym "BGS", "baller-gerold syndrome", "craniosynostosis with radial defects", "craniosynostosis-radial aplasia syndrome" ; + skos:exactMatch UMLS:C0265308 ; biolink:category biolink:Disease . OMIM:218649 a owl:Class ; rdfs:label "craniosynostosis-mental retardation syndrome of 51n and gettig" ; IAO:0000142 PMID:12116213, PMID:2333890 ; - oboInOwl:hasDbXref UMLS:C1857473 ; - oboInOwl:hasExactSynonym "craniosynostosis-mental retardation syndrome of 51n and gettig" . + oboInOwl:hasExactSynonym "craniosynostosis-mental retardation syndrome of 51n and gettig" ; + skos:exactMatch UMLS:C1857473 . OMIM:218650 a owl:Class ; rdfs:label "craniosynostosis-mental retardation-clefting syndrome" ; IAO:0000142 PMID:7172471 ; - oboInOwl:hasDbXref UMLS:C1857472 ; - oboInOwl:hasExactSynonym "craniosynostosis-mental retardation-clefting syndrome" . + oboInOwl:hasExactSynonym "craniosynostosis-mental retardation-clefting syndrome" ; + skos:exactMatch UMLS:C1857472 . OMIM:218670 a owl:Class ; rdfs:label "craniotelencephalic dysplasia" ; IAO:0000142 PMID:13568913, PMID:14213965, PMID:6859106 ; - oboInOwl:hasDbXref UMLS:C1857471 ; - oboInOwl:hasExactSynonym "craniotelencephalic dysplasia" . + oboInOwl:hasExactSynonym "craniotelencephalic dysplasia" ; + skos:exactMatch UMLS:C1857471 . OMIM:218800 a owl:Class ; rdfs:label "crigler-najjar syndrome, iia 1" ; @@ -83737,27 +85831,27 @@ OMIM:218800 a owl:Class ; PMID:9413009, PMID:9580649, PMID:9660509 ; - oboInOwl:hasDbXref UMLS:C0010324 ; oboInOwl:hasExactSynonym "crigler-najjar syndrome", "crigler-najjar syndrome, iia 1", "hyperbilirubinemia, crigler-najjar iia 1" ; rdfs:subClassOf OMIMPS:237450 ; + skos:exactMatch UMLS:C0010324 ; biolink:category biolink:Disease . OMIM:218900 a owl:Class ; rdfs:label "crome syndrome" ; IAO:0000142 PMID:14065995 ; - oboInOwl:hasDbXref UMLS:C0795914 ; oboInOwl:hasExactSynonym "crome syndrome" ; + skos:exactMatch UMLS:C0795914 ; biolink:category biolink:Disease . OMIM:219070 a owl:Class ; rdfs:label "curved nail of fourth toe" ; IAO:0000142 PMID:1998027, PMID:847036 ; - oboInOwl:hasDbXref UMLS:C1857452 ; oboInOwl:hasExactSynonym "claw-like fingers and toes", - "curved nail of fourth toe" . + "curved nail of fourth toe" ; + skos:exactMatch UMLS:C1857452 . OMIM:219080 a owl:Class ; rdfs:label "acth-independent macronodular adrenal hyperplasia" ; @@ -83788,20 +85882,20 @@ OMIM:219080 a owl:Class ; PMID:9358140, PMID:9605918, PMID:9851802 ; - oboInOwl:hasDbXref UMLS:C1857451 ; oboInOwl:hasExactSynonym "AIMAH1", "acth-independent macronodular adrenal hyperplasia", "acth-independent macronodular adrenocortical hyperplasia", "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia", "corticotropin-independent macronodular adrenal hyperplasia", "cushing syndrome, adrenal, due to aimah" ; + skos:exactMatch UMLS:C1857451 ; biolink:category biolink:Disease . OMIM:219095 a owl:Class ; rdfs:label "cutaneous photosensitivity and colitis, lethal" ; IAO:0000142 PMID:2002480 ; - oboInOwl:hasDbXref UMLS:C1857449 ; - oboInOwl:hasExactSynonym "cutaneous photosensitivity and colitis, lethal" . + oboInOwl:hasExactSynonym "cutaneous photosensitivity and colitis, lethal" ; + skos:exactMatch UMLS:C1857449 . OMIM:219200 a owl:Class ; rdfs:label "cutis laxa, autosomal recessive, iia 2a" ; @@ -83827,7 +85921,6 @@ OMIM:219200 a owl:Class ; PMID:8149651, PMID:8411045, PMID:9916839 ; - oboInOwl:hasDbXref UMLS:C0268355 ; oboInOwl:hasExactSynonym "ARCL2A", "arcl2", "cutis laxa with bone dystrophy", @@ -83838,6 +85931,7 @@ OMIM:219200 a owl:Class ; "cutis laxa, debre iia" ; rdfs:subClassOf OMIMPS:123700, OMIMPS:212065 ; + skos:exactMatch UMLS:C0268355 ; biolink:category biolink:Disease . OMIM:219250 a owl:Class ; @@ -83858,9 +85952,9 @@ OMIM:219250 a owl:Class ; PMID:8370779, PMID:8493172, PMID:9923778 ; - oboInOwl:hasDbXref UMLS:C0345419 ; oboInOwl:hasExactSynonym "CMTC", - "cutis marmorata telangiectatica congenita" . + "cutis marmorata telangiectatica congenita" ; + skos:exactMatch UMLS:C0345419 . OMIM:219300 a owl:Class ; rdfs:label "cutis verticis gyrata and mental retardation" ; @@ -83869,35 +85963,35 @@ OMIM:219300 a owl:Class ; PMID:1519641, PMID:1981419, PMID:2018067 ; - oboInOwl:hasDbXref UMLS:C1857444 ; oboInOwl:hasExactSynonym "CVG/MR", - "cutis verticis gyrata and mental retardation" . + "cutis verticis gyrata and mental retardation" ; + skos:exactMatch UMLS:C1857444 . OMIM:219400 a owl:Class ; rdfs:label "cyanosis and hepatic disease" ; IAO:0000142 PMID:4169366 ; - oboInOwl:hasDbXref UMLS:C1857443 ; - oboInOwl:hasExactSynonym "cyanosis and hepatic disease" . + oboInOwl:hasExactSynonym "cyanosis and hepatic disease" ; + skos:exactMatch UMLS:C1857443 . OMIM:219550 a owl:Class ; rdfs:label "cysteine peptiduria" ; IAO:0000142 PMID:4730204 ; - oboInOwl:hasDbXref UMLS:C1857438 ; - oboInOwl:hasExactSynonym "cysteine peptiduria" . + oboInOwl:hasExactSynonym "cysteine peptiduria" ; + skos:exactMatch UMLS:C1857438 . OMIM:219600 a owl:Class ; rdfs:label "cystic disease of lung" ; IAO:0000142 PMID:13590516, PMID:14263933 ; - oboInOwl:hasDbXref UMLS:C1384901 ; - oboInOwl:hasExactSynonym "cystic disease of lung" . + oboInOwl:hasExactSynonym "cystic disease of lung" ; + skos:exactMatch UMLS:C1384901 . OMIM:219721 a owl:Class ; rdfs:label "cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation" ; IAO:0000142 PMID:2029916, PMID:6134060 ; - oboInOwl:hasDbXref UMLS:C3806255 ; - oboInOwl:hasExactSynonym "cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation" . + oboInOwl:hasExactSynonym "cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation" ; + skos:exactMatch UMLS:C3806255 . OMIM:219800 a owl:Class ; rdfs:label "cystinosis, nephropathic" ; @@ -83955,15 +86049,15 @@ OMIM:219800 a owl:Class ; PMID:874699, PMID:9537412, PMID:9792862 ; - oboInOwl:hasDbXref UMLS:C2749685, - UMLS:C2931187, - UMLS:C3537440 ; oboInOwl:hasExactSynonym "CTNS", "cystinosin, defect of", "cystinosis, atypical nephropathic", "cystinosis, infantile nephropathic", "cystinosis, nephropathic", "lysosomal cystine transport protein, defect of" ; + skos:exactMatch UMLS:C2749685, + UMLS:C2931187, + UMLS:C3537440 ; biolink:category biolink:Disease . OMIM:219900 a owl:Class ; @@ -83974,9 +86068,9 @@ OMIM:219900 a owl:Class ; PMID:4056976, PMID:5141767, PMID:5567604 ; - oboInOwl:hasDbXref UMLS:C0268626 ; oboInOwl:hasExactSynonym "cystinosis, intermediate", "cystinosis, late-onset juvenile or adolescent nephropathic iia" ; + skos:exactMatch UMLS:C0268626 ; biolink:category biolink:Disease . OMIM:220210 a owl:Class ; @@ -84003,22 +86097,22 @@ OMIM:220210 a owl:Class ; PMID:8957517, PMID:9021015, PMID:9475602 ; - oboInOwl:hasDbXref UMLS:C0796137, - UMLS:C4551776, - ORPHA:7 ; oboInOwl:hasExactSynonym "3c syndrome", "RTSC1", "craniocerebellocardiac dysplasia", "dandy-walker-like malformation with atrioventricular septal defect", "ritscher-schinzel syndrome 1" ; rdfs:subClassOf OMIMPS:220210 ; + skos:exactMatch UMLS:C0796137, + UMLS:C4551776, + ORPHA:7 ; biolink:category biolink:Disease . OMIM:220219 a owl:Class ; rdfs:label "dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy" ; IAO:0000142 PMID:2591071 ; - oboInOwl:hasDbXref UMLS:C1857352 ; - oboInOwl:hasExactSynonym "dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy" . + oboInOwl:hasExactSynonym "dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy" ; + skos:exactMatch UMLS:C1857352 . OMIM:220220 a owl:Class ; rdfs:label "dandy-walker malformation with postaxial polydactyly" ; @@ -84026,15 +86120,15 @@ OMIM:220220 a owl:Class ; PMID:23324646, PMID:2596509, PMID:7131000 ; - oboInOwl:hasDbXref UMLS:C1857351 ; oboInOwl:hasExactSynonym "dandy-walker malformation with postaxial polydactyly", "dwm with postaxial polydactyly", - "pierquin syndrome" . + "pierquin syndrome" ; + skos:exactMatch UMLS:C1857351 . OMIM:220300 a owl:Class ; rdfs:label "deafness, congenital, and familial myoclonic epilepsy" ; - oboInOwl:hasDbXref UMLS:C1857348 ; - oboInOwl:hasExactSynonym "deafness, congenital, and familial myoclonic epilepsy" . + oboInOwl:hasExactSynonym "deafness, congenital, and familial myoclonic epilepsy" ; + skos:exactMatch UMLS:C1857348 . OMIM:220400 a owl:Class ; rdfs:label "jervell and lange-nielsen syndrome 1" ; @@ -84055,7 +86149,6 @@ OMIM:220400 a owl:Class ; PMID:6991948, PMID:9020846, PMID:9164812 ; - oboInOwl:hasDbXref UMLS:C4551509 ; oboInOwl:hasExactSynonym "JLNS1", "cardioauditory syndrome of jervell and lange-nielsen", "deafness, congenital, and functional heart disease", @@ -84063,6 +86156,7 @@ OMIM:220400 a owl:Class ; "prolonged qt interval 1n ekg and sudden death", "surdo-cardiac syndrome" ; rdfs:subClassOf OMIMPS:220400 ; + skos:exactMatch UMLS:C4551509 ; biolink:category biolink:Disease . OMIM:220800 a owl:Class ; @@ -84073,8 +86167,8 @@ OMIM:220900 a owl:Class ; rdfs:label "deafness, congenital, with total albinism" ; IAO:0000142 PMID:14070830, PMID:16868655 ; - oboInOwl:hasDbXref UMLS:C1857343 ; - oboInOwl:hasExactSynonym "deafness, congenital, with total albinism" . + oboInOwl:hasExactSynonym "deafness, congenital, with total albinism" ; + skos:exactMatch UMLS:C1857343 . OMIM:221000 a owl:Class ; owl:deprecated true . @@ -84084,37 +86178,37 @@ OMIM:221300 a owl:Class ; IAO:0000142 PMID:15633182, PMID:5771216, PMID:624552 ; - oboInOwl:hasDbXref UMLS:C1857341 ; oboInOwl:hasExactSynonym "deafness, conductive, with malformed external ear" ; + skos:exactMatch UMLS:C1857341 ; biolink:category biolink:Disease . OMIM:221320 a owl:Class ; rdfs:label "deafness, conductive, with ptosis and skeletal anomalies" ; IAO:0000142 PMID:728561 ; - oboInOwl:hasDbXref UMLS:C1857340 ; - oboInOwl:hasExactSynonym "deafness, conductive, with ptosis and skeletal anomalies" . + oboInOwl:hasExactSynonym "deafness, conductive, with ptosis and skeletal anomalies" ; + skos:exactMatch UMLS:C1857340 . OMIM:221350 a owl:Class ; rdfs:label "deafness, congenital, with vitiligo and achalasia" ; IAO:0000142 PMID:4687269, PMID:5100941 ; - oboInOwl:hasDbXref UMLS:C1857339 ; oboInOwl:hasExactSynonym "deafness, congenital, with vitiligo and achalasia" ; + skos:exactMatch UMLS:C1857339 ; biolink:category biolink:Disease . OMIM:221400 a owl:Class ; rdfs:label "deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy" ; IAO:0000142 PMID:4028504, PMID:6937848 ; - oboInOwl:hasDbXref UMLS:C1857338 ; oboInOwl:hasExactSynonym "deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy", - "groll-hirschowitz syndrome" . + "groll-hirschowitz syndrome" ; + skos:exactMatch UMLS:C1857338 . OMIM:221500 a owl:Class ; rdfs:label "deafness, neural, congenital moderate" ; IAO:0000142 PMID:5428057 ; - oboInOwl:hasDbXref UMLS:C1857337 ; - oboInOwl:hasExactSynonym "deafness, neural, congenital moderate" . + oboInOwl:hasExactSynonym "deafness, neural, congenital moderate" ; + skos:exactMatch UMLS:C1857337 . OMIM:221600 a owl:Class ; IAO:0100001 OMIM:220290 ; @@ -84131,15 +86225,15 @@ OMIM:221700 a owl:Class ; PMID:5694684, PMID:708601, PMID:8736341 ; - oboInOwl:hasDbXref UMLS:C1857334 ; - oboInOwl:hasExactSynonym "deafness, neural, with atypical atopic dermatitis" . + oboInOwl:hasExactSynonym "deafness, neural, with atypical atopic dermatitis" ; + skos:exactMatch UMLS:C1857334 . OMIM:221740 a owl:Class ; rdfs:label "deafness-oligodontia syndrome" ; IAO:0000142 PMID:485932, PMID:646726 ; - oboInOwl:hasDbXref UMLS:C1857333 ; - oboInOwl:hasExactSynonym "deafness-oligodontia syndrome" . + oboInOwl:hasExactSynonym "deafness-oligodontia syndrome" ; + skos:exactMatch UMLS:C1857333 . OMIM:221745 a owl:Class ; rdfs:label "deafness, sensorineural, autosomal-mitochondrial iia" ; @@ -84152,26 +86246,26 @@ OMIM:221745 a owl:Class ; PMID:7689389, PMID:8817331, PMID:9632174 ; - oboInOwl:hasDbXref UMLS:C1857332 ; - oboInOwl:hasExactSynonym "deafness, sensorineural, autosomal-mitochondrial iia" . + oboInOwl:hasExactSynonym "deafness, sensorineural, autosomal-mitochondrial iia" ; + skos:exactMatch UMLS:C1857332 . OMIM:221760 a owl:Class ; rdfs:label "dermatoglyphics--palmar triradius d, absence of" ; IAO:0000142 PMID:596826 ; - oboInOwl:hasDbXref UMLS:C1857329 ; - oboInOwl:hasExactSynonym "dermatoglyphics--palmar triradius d, absence of" . + oboInOwl:hasExactSynonym "dermatoglyphics--palmar triradius d, absence of" ; + skos:exactMatch UMLS:C1857329 . OMIM:221780 a owl:Class ; rdfs:label "dermatoglyphics--hypothenar radial arch" ; IAO:0000142 PMID:1119542 ; - oboInOwl:hasDbXref UMLS:C1857315 ; - oboInOwl:hasExactSynonym "dermatoglyphics--hypothenar radial arch" . + oboInOwl:hasExactSynonym "dermatoglyphics--hypothenar radial arch" ; + skos:exactMatch UMLS:C1857315 . OMIM:221790 a owl:Class ; rdfs:label "dermatoleukodystrophy" ; IAO:0000142 PMID:655904 ; - oboInOwl:hasDbXref UMLS:C1857314 ; - oboInOwl:hasExactSynonym "dermatoleukodystrophy" . + oboInOwl:hasExactSynonym "dermatoleukodystrophy" ; + skos:exactMatch UMLS:C1857314 . OMIM:221800 a owl:Class ; rdfs:label "dermochondrocorneal dystrophy" ; @@ -84182,30 +86276,30 @@ OMIM:221800 a owl:Class ; PMID:26440764, PMID:3257860, PMID:4968847 ; - oboInOwl:hasDbXref UMLS:C0432288 ; oboInOwl:hasExactSynonym "dermochondrocorneal dystrophy", "francois syndrome" ; + skos:exactMatch UMLS:C0432288 ; biolink:category biolink:Disease . OMIM:221810 a owl:Class ; rdfs:label "dermatoosteolysis, kirghizian iia" ; IAO:0000142 PMID:6224420 ; - oboInOwl:hasDbXref UMLS:C1857301 ; oboInOwl:hasExactSynonym "dermatoosteolysis, kirghizian iia", - "kirghizian dermatoosteolysis" . + "kirghizian dermatoosteolysis" ; + skos:exactMatch UMLS:C1857301 . OMIM:221950 a owl:Class ; rdfs:label "dextrocardia with unusual facies and microphthalmia" ; IAO:0000142 PMID:1609828, PMID:2248283 ; - oboInOwl:hasDbXref UMLS:C1857298 ; - oboInOwl:hasExactSynonym "dextrocardia with unusual facies and microphthalmia" . + oboInOwl:hasExactSynonym "dextrocardia with unusual facies and microphthalmia" ; + skos:exactMatch UMLS:C1857298 . OMIM:221995 a owl:Class ; rdfs:label "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" ; IAO:0000142 PMID:2133981 ; - oboInOwl:hasDbXref UMLS:C1857297 ; - oboInOwl:hasExactSynonym "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" . + oboInOwl:hasExactSynonym "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" ; + skos:exactMatch UMLS:C1857297 . OMIM:222000 a owl:Class ; IAO:0100001 OMIM:125800 ; @@ -84262,26 +86356,26 @@ OMIM:222300 a owl:Class ; PMID:9771706, PMID:9814487, PMID:9817917 ; - oboInOwl:hasDbXref UMLS:C0043207, - UMLS:C4551693 ; oboInOwl:hasExactSynonym "WFS1", "diabetes insipidus and mellitus with optic atrophy and deafness", "wfs", "wolfram syndrome 1" ; + skos:exactMatch UMLS:C0043207, + UMLS:C4551693 ; biolink:category biolink:Disease . OMIM:222350 a owl:Class ; rdfs:label "diaminopentanuria" ; - oboInOwl:hasDbXref UMLS:C1857285 ; oboInOwl:hasExactSynonym "cystine-lysinuria", - "diaminopentanuria" . + "diaminopentanuria" ; + skos:exactMatch UMLS:C1857285 . OMIM:222500 a owl:Class ; rdfs:label "diastematomyelia" ; IAO:0000142 PMID:10449657, PMID:14110362 ; - oboInOwl:hasDbXref UMLS:C0011999 ; - oboInOwl:hasExactSynonym "diastematomyelia" . + oboInOwl:hasExactSynonym "diastematomyelia" ; + skos:exactMatch UMLS:C0011999 . OMIM:222600 a owl:Class ; rdfs:label "diastrophic dysplasia" ; @@ -84313,20 +86407,20 @@ OMIM:222600 a owl:Class ; PMID:8723083, PMID:9108864, PMID:9602486 ; - oboInOwl:hasDbXref UMLS:C0220726, - UMLS:C1857255 ; oboInOwl:hasExactSynonym "DTD", "dd", "diastrophic dysplasia", "diastrophic dysplasia, broad bone-platyspondylic variant" ; + skos:exactMatch UMLS:C0220726, + UMLS:C1857255 ; biolink:category biolink:Disease . OMIM:222690 a owl:Class ; rdfs:label "dibasic amino aciduria 1" ; IAO:0000142 PMID:4144453, PMID:5727921 ; - oboInOwl:hasDbXref UMLS:C2673736 ; oboInOwl:hasExactSynonym "dibasic amino aciduria 1" ; + skos:exactMatch UMLS:C2673736 ; biolink:category biolink:Disease . OMIM:222730 a owl:Class ; @@ -84336,10 +86430,10 @@ OMIM:222730 a owl:Class ; PMID:4810805, PMID:894411, PMID:9233792 ; - oboInOwl:hasDbXref UMLS:C1857253 ; oboInOwl:hasExactSynonym "DCBXA", "dicarboxylic aminoaciduria", "glutamate-aspartate transport defect" ; + skos:exactMatch UMLS:C1857253 ; biolink:category biolink:Disease . OMIM:222745 a owl:Class ; @@ -84349,12 +86443,13 @@ OMIM:222745 a owl:Class ; PMID:24847004, PMID:9403065, PMID:9933573 ; - oboInOwl:hasDbXref UMLS:C1413969 ; oboInOwl:hasExactSynonym "2,4-dienoyl-coa reductase 1, mitochondrial", "DECR1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1666 ; - skos:exactMatch HGNC_symbol:DECR1 ; + skos:exactMatch UMLS:C1413969, + HGNC:2753, + HGNC_symbol:DECR1 ; biolink:category biolink:Gene . OMIM:222760 a owl:Class ; @@ -84380,29 +86475,29 @@ OMIM:223200 a owl:Class ; PMID:8244336, PMID:8488837, PMID:9415470 ; - oboInOwl:hasDbXref UMLS:C1857230 ; oboInOwl:hasExactSynonym "disorganization, mouse, homolog of", "ds" ; + skos:exactMatch UMLS:C1857230 ; biolink:category biolink:Disease . OMIM:223300 a owl:Class ; rdfs:label "disseminated sclerosis with narcolepsy" ; IAO:0000142 PMID:5912493 ; - oboInOwl:hasDbXref UMLS:C1857229 ; - oboInOwl:hasExactSynonym "disseminated sclerosis with narcolepsy" . + oboInOwl:hasExactSynonym "disseminated sclerosis with narcolepsy" ; + skos:exactMatch UMLS:C1857229 . OMIM:223320 a owl:Class ; rdfs:label "diverticulosis, small-intestinal" ; IAO:0000142 PMID:3140368 ; - oboInOwl:hasDbXref UMLS:C1857228 ; - oboInOwl:hasExactSynonym "diverticulosis, small-intestinal" . + oboInOwl:hasExactSynonym "diverticulosis, small-intestinal" ; + skos:exactMatch UMLS:C1857228 . OMIM:223330 a owl:Class ; rdfs:label "diverticulosis of bowel, hernia, and retinal detachment" ; IAO:0000142 PMID:13880014, PMID:8976669 ; - oboInOwl:hasDbXref UMLS:C1857227 ; - oboInOwl:hasExactSynonym "diverticulosis of bowel, hernia, and retinal detachment" . + oboInOwl:hasExactSynonym "diverticulosis of bowel, hernia, and retinal detachment" ; + skos:exactMatch UMLS:C1857227 . OMIM:223340 a owl:Class ; rdfs:label "dk phocomelia syndrome" ; @@ -84411,16 +86506,16 @@ OMIM:223340 a owl:Class ; PMID:6106133, PMID:7802033, PMID:9415466 ; - oboInOwl:hasDbXref UMLS:C1857226 ; oboInOwl:hasExactSynonym "dk phocomelia syndrome", "phocomelia, thrombocytopenia, encephalocele, urogenital malformations", - "von voss-cherstvoy syndrome" . + "von voss-cherstvoy syndrome" ; + skos:exactMatch UMLS:C1857226 . OMIM:223350 a owl:Class ; rdfs:label "dohle bodies and leukemia" ; IAO:0000142 PMID:5280989 ; - oboInOwl:hasDbXref UMLS:C1857225 ; - oboInOwl:hasExactSynonym "dohle bodies and leukemia" . + oboInOwl:hasExactSynonym "dohle bodies and leukemia" ; + skos:exactMatch UMLS:C1857225 . OMIM:223370 a owl:Class ; rdfs:label "dubowitz syndrome" ; @@ -84449,15 +86544,15 @@ OMIM:223370 a owl:Class ; PMID:7536394, PMID:8723121, PMID:917026 ; - oboInOwl:hasDbXref UMLS:C0175691 ; oboInOwl:hasExactSynonym "dubowitz syndrome" ; + skos:exactMatch UMLS:C0175691 ; biolink:category biolink:Disease . OMIM:223380 a owl:Class ; rdfs:label "dopamine beta-hydroxylase, plasma, thermolability of" ; IAO:0000142 PMID:7081218 ; - oboInOwl:hasDbXref UMLS:C1857198 ; - oboInOwl:hasExactSynonym "dopamine beta-hydroxylase, plasma, thermolability of" . + oboInOwl:hasExactSynonym "dopamine beta-hydroxylase, plasma, thermolability of" ; + skos:exactMatch UMLS:C1857198 . OMIM:223400 a owl:Class ; rdfs:label "duodenal atresia" ; @@ -84467,25 +86562,25 @@ OMIM:223400 a owl:Class ; PMID:5503698, PMID:5547883, PMID:704218 ; - oboInOwl:hasDbXref UMLS:C0266174 ; - oboInOwl:hasExactSynonym "duodenal atresia" . + oboInOwl:hasExactSynonym "duodenal atresia" ; + skos:exactMatch UMLS:C0266174 . OMIM:223500 a owl:Class ; rdfs:label "dwarfism, low-birth-weight type, with unresponsiveness to growth hormone" ; - oboInOwl:hasDbXref UMLS:C1857197 ; - oboInOwl:hasExactSynonym "dwarfism, low-birth-weight type, with unresponsiveness to growth hormone" . + oboInOwl:hasExactSynonym "dwarfism, low-birth-weight type, with unresponsiveness to growth hormone" ; + skos:exactMatch UMLS:C1857197 . OMIM:223540 a owl:Class ; rdfs:label "dwarfism, mental retardation, and eye abnormality" ; IAO:0000142 PMID:4640901 ; - oboInOwl:hasDbXref UMLS:C0796076 ; oboInOwl:hasExactSynonym "dwarfism, mental retardation, and eye abnormality", - "mollica syndrome" . + "mollica syndrome" ; + skos:exactMatch UMLS:C0796076 . OMIM:223550 a owl:Class ; rdfs:label "dwarfism, proportionate, with hip dislocation" ; - oboInOwl:hasDbXref UMLS:C1857196 ; - oboInOwl:hasExactSynonym "dwarfism, proportionate, with hip dislocation" . + oboInOwl:hasExactSynonym "dwarfism, proportionate, with hip dislocation" ; + skos:exactMatch UMLS:C1857196 . OMIM:223600 a owl:Class ; IAO:0100001 OMIM:127100 ; @@ -84517,10 +86612,10 @@ OMIM:223800 a owl:Class ; PMID:803318, PMID:9295067, PMID:964990 ; - oboInOwl:hasDbXref UMLS:C0265286, - ORPHA:239 ; oboInOwl:hasExactSynonym "DMC", "dyggve-melchior-clausen disease" ; + skos:exactMatch UMLS:C0265286, + ORPHA:239 ; biolink:category biolink:Disease . OMIM:223900 a owl:Class ; @@ -84580,21 +86675,21 @@ OMIM:223900 a owl:Class ; PMID:920171, PMID:9546030, PMID:987530 ; - oboInOwl:hasDbXref UMLS:C0013364, - ORPHA:1764 ; oboInOwl:hasExactSynonym "HSAN3", "dysautonomia, familial", "hsan 3", "neuropathy, hereditary sensory and autonomic, iia 3", "riley-day syndrome" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C0013364, + ORPHA:1764 ; biolink:category biolink:Disease . OMIM:224000 a owl:Class ; rdfs:label "dysautonomia-like disorder" ; IAO:0000142 PMID:5410175 ; - oboInOwl:hasDbXref UMLS:C1857153 ; - oboInOwl:hasExactSynonym "dysautonomia-like disorder" . + oboInOwl:hasExactSynonym "dysautonomia-like disorder" ; + skos:exactMatch UMLS:C1857153 . OMIM:224200 a owl:Class ; IAO:0100001 OMIM:229200 ; @@ -84603,8 +86698,8 @@ OMIM:224200 a owl:Class ; OMIM:224250 a owl:Class ; rdfs:label "dysmyelination with jaundice" ; IAO:0000142 PMID:837946 ; - oboInOwl:hasDbXref UMLS:C1857143 ; - oboInOwl:hasExactSynonym "dysmyelination with jaundice" . + oboInOwl:hasExactSynonym "dysmyelination with jaundice" ; + skos:exactMatch UMLS:C1857143 . OMIM:224300 a owl:Class ; rdfs:label "dysosteosclerosis" ; @@ -84613,8 +86708,8 @@ OMIM:224300 a owl:Class ; PMID:19991797, PMID:417609, PMID:5750745 ; - oboInOwl:hasDbXref UMLS:C0432262 ; oboInOwl:hasExactSynonym "dysosteosclerosis" ; + skos:exactMatch UMLS:C0432262 ; biolink:category biolink:Disease . OMIM:224400 a owl:Class ; @@ -84628,11 +86723,11 @@ OMIM:224400 a owl:Class ; PMID:9450878, PMID:954769, PMID:989037 ; - oboInOwl:hasDbXref UMLS:C0432209 ; oboInOwl:hasExactSynonym "DDRD", "anisospondylic camptomicromelic dwarfism, rolland-desbuquois iia", "dyssegmental dwarfism, rolland-desbuquois iia", "dyssegmental dysplasia, rolland-desbuquois iia" ; + skos:exactMatch UMLS:C0432209 ; biolink:category biolink:Disease . OMIM:224410 a owl:Class ; @@ -84640,19 +86735,19 @@ OMIM:224410 a owl:Class ; IAO:0000142 PMID:11279527, PMID:3605216, PMID:4059934 ; - oboInOwl:hasDbXref UMLS:C1857100, - ORPHA:1865 ; oboInOwl:hasExactSynonym "DDSH", "anisospondylic camptomicromelic dwarfism, silverman-handmaker iia", "dyssegmental dwarfism, silverman-handmaker iia", "dyssegmental dysplasia, silverman-handmaker iia" ; + skos:exactMatch UMLS:C1857100, + ORPHA:1865 ; biolink:category biolink:Disease . OMIM:224550 a owl:Class ; rdfs:label "dystonia with ringbinden" ; IAO:0000142 PMID:5115555 ; - oboInOwl:hasDbXref UMLS:C1857089 ; - oboInOwl:hasExactSynonym "dystonia with ringbinden" . + oboInOwl:hasExactSynonym "dystonia with ringbinden" ; + skos:exactMatch UMLS:C1857089 . OMIM:224570 a owl:Class ; IAO:0100001 OMIM:500001 ; @@ -84673,14 +86768,14 @@ OMIM:224700 a owl:Class ; PMID:5638476, PMID:5938901, PMID:9805133 ; - oboInOwl:hasDbXref UMLS:C0013481 ; - oboInOwl:hasExactSynonym "ebstein anomaly" . + oboInOwl:hasExactSynonym "ebstein anomaly" ; + skos:exactMatch UMLS:C0013481 . OMIM:224800 a owl:Class ; rdfs:label "ectodermal dysplasia and neurosensory deafness" ; IAO:0000142 PMID:5422345 ; - oboInOwl:hasDbXref UMLS:C1857068 ; - oboInOwl:hasExactSynonym "ectodermal dysplasia and neurosensory deafness" . + oboInOwl:hasExactSynonym "ectodermal dysplasia and neurosensory deafness" ; + skos:exactMatch UMLS:C1857068 . OMIM:224900 a owl:Class ; rdfs:label "ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive" ; @@ -84694,12 +86789,12 @@ OMIM:224900 a owl:Class ; PMID:5440468, PMID:5984977, PMID:9863606 ; - oboInOwl:hasDbXref UMLS:C3887494 ; oboInOwl:hasExactSynonym "ECTD10B", "ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive", "ectodermal dysplasia, anhidrotic", "ectodermal dysplasia, hypohidrotic" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C3887494 ; biolink:category biolink:Disease . OMIM:225000 a owl:Class ; @@ -84707,15 +86802,15 @@ OMIM:225000 a owl:Class ; IAO:0000142 PMID:14494246, PMID:174848, PMID:7891379 ; - oboInOwl:hasDbXref UMLS:C0796139 ; - oboInOwl:hasExactSynonym "rosselli-gulienetti syndrome" . + oboInOwl:hasExactSynonym "rosselli-gulienetti syndrome" ; + skos:exactMatch UMLS:C0796139 . OMIM:225040 a owl:Class ; rdfs:label "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" ; IAO:0000142 PMID:2769725, PMID:8474109 ; - oboInOwl:hasDbXref UMLS:C1857053 ; - oboInOwl:hasExactSynonym "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" . + oboInOwl:hasExactSynonym "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" ; + skos:exactMatch UMLS:C1857053 . OMIM:225050 a owl:Class ; rdfs:label "ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia" ; @@ -84723,9 +86818,9 @@ OMIM:225050 a owl:Class ; PMID:3944674, PMID:4831955, PMID:7463217 ; - oboInOwl:hasDbXref UMLS:C1857052 ; oboInOwl:hasExactSynonym "ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia", - "hedh syndrome" . + "hedh syndrome" ; + skos:exactMatch UMLS:C1857052 . OMIM:225200 a owl:Class ; rdfs:label "ectopia lentis et pupillae" ; @@ -84738,18 +86833,18 @@ OMIM:225200 a owl:Class ; PMID:3266004, PMID:7696232, PMID:938292 ; - oboInOwl:hasDbXref UMLS:C1644196 ; oboInOwl:hasExactSynonym "ectopia lentis et pupillae", "ectopia lentis with ectopia of pupil" ; + skos:exactMatch UMLS:C1644196 ; biolink:category biolink:Disease . OMIM:225250 a owl:Class ; rdfs:label "hypothyroidism, congenital, nongoitrous, 5" ; IAO:0000142 PMID:16418214 ; - oboInOwl:hasDbXref UMLS:C2673630 ; oboInOwl:hasExactSynonym "CHNG5", "hypothyroidism, congenital, nongoitrous, 5" ; rdfs:subClassOf OMIMPS:275200 ; + skos:exactMatch UMLS:C2673630 ; biolink:category biolink:Disease . OMIM:225280 a owl:Class ; @@ -84759,18 +86854,18 @@ OMIM:225280 a owl:Class ; PMID:15805154, PMID:3425621, PMID:6302256 ; - oboInOwl:hasDbXref UMLS:C1857041, - ORPHA:1897 ; oboInOwl:hasExactSynonym "EEMS", "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome", "eem syndrome" ; + skos:exactMatch UMLS:C1857041, + ORPHA:1897 ; biolink:category biolink:Disease . OMIM:225290 a owl:Class ; rdfs:label "ectrodactyly-polydactyly" ; IAO:0000142 PMID:7151304 ; - oboInOwl:hasDbXref UMLS:C1857040 ; - oboInOwl:hasExactSynonym "ectrodactyly-polydactyly" . + oboInOwl:hasExactSynonym "ectrodactyly-polydactyly" ; + skos:exactMatch UMLS:C1857040 . OMIM:225300 a owl:Class ; rdfs:label "split-hand/foot malformation 6" ; @@ -84784,23 +86879,23 @@ OMIM:225300 a owl:Class ; PMID:3346888, PMID:3585937, PMID:5094721 ; - oboInOwl:hasDbXref UMLS:C2749665 ; oboInOwl:hasExactSynonym "SHFM6", "ectrodactyly, autosomal recessive", "split-hand/foot malformation 6" ; rdfs:subClassOf OMIMPS:183600 ; + skos:exactMatch UMLS:C2749665 ; biolink:category biolink:Disease . OMIM:225310 a owl:Class ; rdfs:label "ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality" ; IAO:0000142 PMID:7131704, PMID:7382073 ; - oboInOwl:hasDbXref UMLS:C1857038 ; oboInOwl:hasExactSynonym "eds 10", "ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality", "ehlers-danlos syndrome, iia 10", "ehlers-danlos syndrome, dysfibronectinemic iia", - "fn abnormality" . + "fn abnormality" ; + skos:exactMatch UMLS:C1857038 . OMIM:225320 a owl:Class ; rdfs:label "ehlers-danlos syndrome, cardiac valvular iia" ; @@ -84809,10 +86904,10 @@ OMIM:225320 a owl:Class ; PMID:2952379, PMID:3049731, PMID:3383844 ; - oboInOwl:hasDbXref UMLS:C4303789 ; oboInOwl:hasExactSynonym "EDSCV", "ehlers-danlos syndrome, cardiac valvular iia" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C4303789 ; biolink:category biolink:Disease . OMIM:225350 a owl:Class ; @@ -84828,22 +86923,22 @@ OMIM:225450 a owl:Class ; OMIM:225700 a owl:Class ; rdfs:label "encephalomalacia, multilocular" ; - oboInOwl:hasDbXref UMLS:C1856991 ; - oboInOwl:hasExactSynonym "encephalomalacia, multilocular" . + oboInOwl:hasExactSynonym "encephalomalacia, multilocular" ; + skos:exactMatch UMLS:C1856991 . OMIM:225740 a owl:Class ; rdfs:label "encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts" ; IAO:0000142 PMID:2317015 ; - oboInOwl:hasDbXref UMLS:C1856990 ; oboInOwl:hasExactSynonym "encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts", - "lyon syndrome" . + "lyon syndrome" ; + skos:exactMatch UMLS:C1856990 . OMIM:225755 a owl:Class ; rdfs:label "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" ; IAO:0000142 PMID:1941968, PMID:2654691 ; - oboInOwl:hasDbXref UMLS:C1856973 ; - oboInOwl:hasExactSynonym "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" . + oboInOwl:hasExactSynonym "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" ; + skos:exactMatch UMLS:C1856973 . OMIM:225795 a owl:Class ; IAO:0100001 OMIM:166000 ; @@ -84860,45 +86955,45 @@ OMIM:226000 a owl:Class ; PMID:6019751, PMID:6105824, PMID:7220390 ; - oboInOwl:hasDbXref UMLS:C0014117 ; oboInOwl:hasExactSynonym "EFE", - "endocardial fibroelastosis" . + "endocardial fibroelastosis" ; + skos:exactMatch UMLS:C0014117 . OMIM:226100 a owl:Class ; rdfs:label "endocardial fibroelastosis and coarctation of abdominal aorta" ; IAO:0000142 PMID:5718994 ; - oboInOwl:hasDbXref UMLS:C1856971 ; - oboInOwl:hasExactSynonym "endocardial fibroelastosis and coarctation of abdominal aorta" . + oboInOwl:hasExactSynonym "endocardial fibroelastosis and coarctation of abdominal aorta" ; + skos:exactMatch UMLS:C1856971 . OMIM:226110 a owl:Class ; rdfs:label "endothelial dystrophy, congenital hereditary, with nail hypoplasia" ; IAO:0000142 PMID:8110708 ; - oboInOwl:hasDbXref UMLS:C1856970 ; - oboInOwl:hasExactSynonym "endothelial dystrophy, congenital hereditary, with nail hypoplasia" . + oboInOwl:hasExactSynonym "endothelial dystrophy, congenital hereditary, with nail hypoplasia" ; + skos:exactMatch UMLS:C1856970 . OMIM:226150 a owl:Class ; rdfs:label "enterocolitis" ; IAO:0000142 PMID:17204052, PMID:4426135 ; - oboInOwl:hasDbXref UMLS:C0014356 ; - oboInOwl:hasExactSynonym "enterocolitis" . + oboInOwl:hasExactSynonym "enterocolitis" ; + skos:exactMatch UMLS:C0014356 . OMIM:226300 a owl:Class ; rdfs:label "complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy" ; IAO:0000142 PMID:28657829, PMID:28657861, PMID:4813510 ; - oboInOwl:hasDbXref UMLS:C4538570, - ORPHA:566175 ; oboInOwl:hasExactSynonym "CHAPLE", "complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy" ; + skos:exactMatch UMLS:C4538570, + ORPHA:566175 ; biolink:category biolink:Disease . OMIM:226350 a owl:Class ; rdfs:label "eosinophilic fasciitis" ; IAO:0000142 PMID:2912468 ; - oboInOwl:hasDbXref UMLS:C0264005 ; - oboInOwl:hasExactSynonym "eosinophilic fasciitis" . + oboInOwl:hasExactSynonym "eosinophilic fasciitis" ; + skos:exactMatch UMLS:C0264005 . OMIM:226440 a owl:Class ; rdfs:label "epidermolysis bullosa, late-onset localized junctional, with mental retardation" ; @@ -84907,8 +87002,8 @@ OMIM:226440 a owl:Class ; PMID:3355199, PMID:4093948, PMID:488495 ; - oboInOwl:hasDbXref UMLS:C1856969 ; - oboInOwl:hasExactSynonym "epidermolysis bullosa, late-onset localized junctional, with mental retardation" . + oboInOwl:hasExactSynonym "epidermolysis bullosa, late-onset localized junctional, with mental retardation" ; + skos:exactMatch UMLS:C1856969 . OMIM:226450 a owl:Class ; oboInOwl:consider OMIM:226600, @@ -84937,45 +87032,45 @@ OMIM:226670 a owl:Class ; PMID:8696340, PMID:8894687, PMID:9358473 ; - oboInOwl:hasDbXref UMLS:C2931072 ; oboInOwl:hasExactSynonym "EBS5B", "epidermolysis bullosa simplex 5b, with muscular dystrophy", "epidermolysis bullosa simplex and limb-girdle muscular dystrophy", "epidermolysis bullosa simplex with muscular dystrophy", "md-ebs" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C2931072 ; biolink:category biolink:Disease . OMIM:226735 a owl:Class ; rdfs:label "epidermolysis bullosa with diaphragmatic hernia" ; IAO:0000142 PMID:1877633 ; - oboInOwl:hasDbXref UMLS:C1856933 ; - oboInOwl:hasExactSynonym "epidermolysis bullosa with diaphragmatic hernia" . + oboInOwl:hasExactSynonym "epidermolysis bullosa with diaphragmatic hernia" ; + skos:exactMatch UMLS:C1856933 . OMIM:226800 a owl:Class ; rdfs:label "epilepsy, photogenic, with spastic diplegia and mental retardation" ; IAO:0000142 PMID:13630240 ; - oboInOwl:hasDbXref UMLS:C1856931 ; - oboInOwl:hasExactSynonym "epilepsy, photogenic, with spastic diplegia and mental retardation" . + oboInOwl:hasExactSynonym "epilepsy, photogenic, with spastic diplegia and mental retardation" ; + skos:exactMatch UMLS:C1856931 . OMIM:226810 a owl:Class ; rdfs:label "epilepsy with bilateral occipital calcifications" ; IAO:0000142 PMID:1354781, PMID:8133982 ; - oboInOwl:hasDbXref UMLS:C1856930 ; - oboInOwl:hasExactSynonym "epilepsy with bilateral occipital calcifications" . + oboInOwl:hasExactSynonym "epilepsy with bilateral occipital calcifications" ; + skos:exactMatch UMLS:C1856930 . OMIM:226850 a owl:Class ; rdfs:label "epilepsy-telangiectasia" ; IAO:0000142 PMID:627106 ; - oboInOwl:hasDbXref UMLS:C1856929 ; - oboInOwl:hasExactSynonym "epilepsy-telangiectasia" . + oboInOwl:hasExactSynonym "epilepsy-telangiectasia" ; + skos:exactMatch UMLS:C1856929 . OMIM:226950 a owl:Class ; rdfs:label "epiphyseal dysplasia of femoral head, myopia, and deafness" ; IAO:0000142 PMID:4730943 ; - oboInOwl:hasDbXref UMLS:C1856918 ; - oboInOwl:hasExactSynonym "epiphyseal dysplasia of femoral head, myopia, and deafness" . + oboInOwl:hasExactSynonym "epiphyseal dysplasia of femoral head, myopia, and deafness" ; + skos:exactMatch UMLS:C1856918 . OMIM:226960 a owl:Class ; rdfs:label "lowry-wood syndrome" ; @@ -84987,41 +87082,41 @@ OMIM:226960 a owl:Class ; PMID:29265708, PMID:30368667, PMID:3706411 ; - oboInOwl:hasDbXref UMLS:C0796021, - ORPHA:1824 ; oboInOwl:hasExactSynonym "LWS", "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy", "lowry-wood syndrome" ; + skos:exactMatch UMLS:C0796021, + ORPHA:1824 ; biolink:category biolink:Disease . OMIM:226985 a owl:Class ; rdfs:label "epithelial squamous dysplasia, keratinizing desquamative, of urinary tract" ; IAO:0000142 PMID:1856947 ; - oboInOwl:hasDbXref UMLS:C1856902 ; - oboInOwl:hasExactSynonym "epithelial squamous dysplasia, keratinizing desquamative, of urinary tract" . + oboInOwl:hasExactSynonym "epithelial squamous dysplasia, keratinizing desquamative, of urinary tract" ; + skos:exactMatch UMLS:C1856902 . OMIM:227000 a owl:Class ; rdfs:label "erythema of acral regions" ; IAO:0000142 PMID:6023700 ; - oboInOwl:hasDbXref UMLS:C1856900 ; - oboInOwl:hasExactSynonym "erythema of acral regions" . + oboInOwl:hasExactSynonym "erythema of acral regions" ; + skos:exactMatch UMLS:C1856900 . OMIM:227010 a owl:Class ; rdfs:label "ermine phenotype" ; IAO:0000142 PMID:19449401, PMID:3055988, PMID:397773 ; - oboInOwl:hasDbXref UMLS:C0268501, - UMLS:C1856899 ; oboInOwl:hasExactSynonym "black locks with albinism and deafness syndrome", "ermine phenotype", - "pigmentary disorder with hearing loss" . + "pigmentary disorder with hearing loss" ; + skos:exactMatch UMLS:C0268501, + UMLS:C1856899 . OMIM:227090 a owl:Class ; rdfs:label "erythroderma, lethal congenital" ; IAO:0000142 PMID:1535034 ; - oboInOwl:hasDbXref UMLS:C1856898 ; oboInOwl:hasExactSynonym "erythroderma, lethal congenital" ; + skos:exactMatch UMLS:C1856898 ; biolink:category biolink:Disease . OMIM:227100 a owl:Class ; @@ -85031,9 +87126,9 @@ OMIM:227100 a owl:Class ; OMIM:227150 a owl:Class ; rdfs:label "ethanolaminosis" ; IAO:0000142 PMID:198213 ; - oboInOwl:hasDbXref UMLS:C0268423 ; oboInOwl:hasExactSynonym "ethanolamine kinase deficiency", "ethanolaminosis" ; + skos:exactMatch UMLS:C0268423 ; biolink:category biolink:Disease . OMIM:227200 a owl:Class ; @@ -85044,33 +87139,33 @@ OMIM:227210 a owl:Class ; rdfs:label "eyebrows, duplication of, with stretchable skin and syndactyly" ; IAO:0000142 PMID:2736796, PMID:3359678 ; - oboInOwl:hasDbXref UMLS:C1856896 ; - oboInOwl:hasExactSynonym "eyebrows, duplication of, with stretchable skin and syndactyly" . + oboInOwl:hasExactSynonym "eyebrows, duplication of, with stretchable skin and syndactyly" ; + skos:exactMatch UMLS:C1856896 . OMIM:227250 a owl:Class ; rdfs:label "facial abnormalities, kyphoscoliosis, and mental retardation" ; IAO:0000142 PMID:4765203 ; - oboInOwl:hasDbXref UMLS:C1856893 ; - oboInOwl:hasExactSynonym "facial abnormalities, kyphoscoliosis, and mental retardation" . + oboInOwl:hasExactSynonym "facial abnormalities, kyphoscoliosis, and mental retardation" ; + skos:exactMatch UMLS:C1856893 . OMIM:227255 a owl:Class ; rdfs:label "facial dysmorphism with multiple malformations" ; IAO:0000142 PMID:1956065 ; - oboInOwl:hasDbXref UMLS:C1856892 ; - oboInOwl:hasExactSynonym "facial dysmorphism with multiple malformations" . + oboInOwl:hasExactSynonym "facial dysmorphism with multiple malformations" ; + skos:exactMatch UMLS:C1856892 . OMIM:227270 a owl:Class ; rdfs:label "faciocardiomelic dysplasia, lethal" ; - oboInOwl:hasDbXref UMLS:C1856891 ; - oboInOwl:hasExactSynonym "faciocardiomelic dysplasia, lethal" . + oboInOwl:hasExactSynonym "faciocardiomelic dysplasia, lethal" ; + skos:exactMatch UMLS:C1856891 . OMIM:227280 a owl:Class ; rdfs:label "faciocardiorenal syndrome" ; IAO:0000142 PMID:1887846, PMID:880742 ; - oboInOwl:hasDbXref UMLS:C0795936 ; oboInOwl:hasExactSynonym "eastman-bixler syndrome", - "faciocardiorenal syndrome" . + "faciocardiorenal syndrome" ; + skos:exactMatch UMLS:C0795936 . OMIM:227290 a owl:Class ; IAO:0100001 OMIM:222448 ; @@ -85083,24 +87178,24 @@ OMIM:227295 a owl:Class ; OMIM:227310 a owl:Class ; rdfs:label "factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor" ; IAO:0000142 PMID:2990022 ; - oboInOwl:hasDbXref UMLS:C1856882 ; - oboInOwl:hasExactSynonym "factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor" . + oboInOwl:hasExactSynonym "factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor" ; + skos:exactMatch UMLS:C1856882 . OMIM:227320 a owl:Class ; rdfs:label "faciothoracogenital syndrome" ; IAO:0000142 PMID:3597718 ; - oboInOwl:hasDbXref UMLS:C2931184 ; - oboInOwl:hasExactSynonym "faciothoracogenital syndrome" . + oboInOwl:hasExactSynonym "faciothoracogenital syndrome" ; + skos:exactMatch UMLS:C2931184 . OMIM:227330 a owl:Class ; rdfs:label "faciodigitogenital syndrome, autosomal recessive" ; IAO:0000142 PMID:1770541, PMID:20607856, PMID:3398008 ; - oboInOwl:hasDbXref UMLS:C1856871 ; oboInOwl:hasExactSynonym "aarskog-like syndrome", "faciodigitogenital syndrome, autosomal recessive", "kuwait-type faciodigitogenital syndrome" ; + skos:exactMatch UMLS:C1856871 ; biolink:category biolink:Disease . OMIM:227400 a owl:Class ; @@ -85119,12 +87214,12 @@ OMIM:227400 a owl:Class ; PMID:9488630, PMID:9576178, PMID:9877047 ; - oboInOwl:hasDbXref UMLS:C0015499, - ORPHA:326 ; oboInOwl:hasExactSynonym "factor 5 deficiency", "labile factor deficiency", "owren parahemophilia", "parahemophilia" ; + skos:exactMatch UMLS:C0015499, + ORPHA:326 ; biolink:category biolink:Disease . OMIM:227500 a owl:Class ; @@ -85163,10 +87258,10 @@ OMIM:227500 a owl:Class ; PMID:901936, PMID:9198146, PMID:9680360 ; - oboInOwl:hasDbXref UMLS:C0015503 ; oboInOwl:hasExactSynonym "f7 deficiency", "factor 7 deficiency", "hypoproconvertinemia" ; + skos:exactMatch UMLS:C0015503 ; biolink:category biolink:Disease . OMIM:227660 a owl:Class ; @@ -85203,7 +87298,6 @@ OMIM:227810 a owl:Class ; PMID:9266402, PMID:9354798, PMID:9809815 ; - oboInOwl:hasDbXref UMLS:C3495427 ; oboInOwl:hasExactSynonym "FBS", "fanconi syndrome with intestinal malabsorption and galactose intolerance", "fanconi-bickel syndrome", @@ -85213,13 +87307,14 @@ OMIM:227810 a owl:Class ; "hepatic glycogenosis with fanconi nephropathy", "hepatorenal glycogenosis with renal fanconi syndrome", "pseudo-phlorizin diabetes" ; + skos:exactMatch UMLS:C3495427 ; biolink:category biolink:Disease . OMIM:227850 a owl:Class ; rdfs:label "fanconi-like syndrome" ; IAO:0000142 PMID:4692131 ; - oboInOwl:hasDbXref UMLS:C0151638 ; - oboInOwl:hasExactSynonym "fanconi-like syndrome" . + oboInOwl:hasExactSynonym "fanconi-like syndrome" ; + skos:exactMatch UMLS:C0151638 . OMIM:228000 a owl:Class ; rdfs:label "farber lipogranulomatosis" ; @@ -85240,8 +87335,6 @@ OMIM:228000 a owl:Class ; PMID:8955159, PMID:9128814, PMID:91777 ; - oboInOwl:hasDbXref UMLS:C0268255, - ORPHA:333 ; oboInOwl:hasExactSynonym "FRBRL", "ac deficiency", "acid ceramidase deficiency", @@ -85249,14 +87342,16 @@ OMIM:228000 a owl:Class ; "farber disease", "farber lipogranulomatosis", "n-laurylsphingosine deacylase deficiency" ; + skos:exactMatch UMLS:C0268255, + ORPHA:333 ; biolink:category biolink:Disease . OMIM:228020 a owl:Class ; rdfs:label "fascial dystrophy, congenital" ; IAO:0000142 PMID:176891, PMID:2808830 ; - oboInOwl:hasDbXref UMLS:C1302740 ; - oboInOwl:hasExactSynonym "fascial dystrophy, congenital" . + oboInOwl:hasExactSynonym "fascial dystrophy, congenital" ; + skos:exactMatch UMLS:C1302740 . OMIM:228100 a owl:Class ; rdfs:label "visceral steatosis, congenital" ; @@ -85270,12 +87365,12 @@ OMIM:228100 a owl:Class ; PMID:6476011, PMID:6650573, PMID:7234407 ; - oboInOwl:hasDbXref UMLS:C0341447 ; oboInOwl:hasExactSynonym "fatty liver disease, congenital", "fatty metamorphosis of viscera", "steatosis of liver", "visceral steatosis, congenital", "white liver disease" ; + skos:exactMatch UMLS:C0341447 ; biolink:category biolink:Disease . OMIM:228200 a owl:Class ; @@ -85284,9 +87379,9 @@ OMIM:228200 a owl:Class ; PMID:6652959, PMID:7937589, PMID:8500790 ; - oboInOwl:hasDbXref UMLS:C1856790 ; oboInOwl:hasExactSynonym "femur-fibula-ulna syndrome", - "ffu syndrome" . + "ffu syndrome" ; + skos:exactMatch UMLS:C1856790 . OMIM:228250 a owl:Class ; rdfs:label "femur, unilateral bifid, with monodactylous ectrodactyly" ; @@ -85300,25 +87395,25 @@ OMIM:228250 a owl:Class ; PMID:6699064, PMID:7468656, PMID:9880223 ; - oboInOwl:hasDbXref UMLS:C1856789 ; oboInOwl:hasExactSynonym "femur, unilateral bifid, with monodactylous ectrodactyly", "gollop-wolfgang complex" ; + skos:exactMatch UMLS:C1856789 ; biolink:category biolink:Disease . OMIM:228355 a owl:Class ; rdfs:label "fetal iodine deficiency disorder" ; IAO:0000142 PMID:10889546, PMID:2301474 ; - oboInOwl:hasDbXref UMLS:C0342200 ; oboInOwl:hasExactSynonym "FIDD", "endemic cretinism", - "fetal iodine deficiency disorder" . + "fetal iodine deficiency disorder" ; + skos:exactMatch UMLS:C0342200 . OMIM:228400 a owl:Class ; rdfs:label "fever, familial lifelong persistent" ; IAO:0000142 PMID:4951423 ; - oboInOwl:hasDbXref UMLS:C1856788 ; - oboInOwl:hasExactSynonym "fever, familial lifelong persistent" . + oboInOwl:hasExactSynonym "fever, familial lifelong persistent" ; + skos:exactMatch UMLS:C1856788 . OMIM:228520 a owl:Class ; rdfs:label "fibrochondrogenesis 1" ; @@ -85330,10 +87425,10 @@ OMIM:228520 a owl:Class ; PMID:749746, PMID:8733059, PMID:9475607 ; - oboInOwl:hasDbXref UMLS:C3278138 ; oboInOwl:hasExactSynonym "FBCG1", "fibrochondrogenesis 1" ; rdfs:subClassOf OMIMPS:228520 ; + skos:exactMatch UMLS:C3278138 ; biolink:category biolink:Disease . OMIM:228550 a owl:Class ; @@ -85364,22 +87459,22 @@ OMIM:228550 a owl:Class ; PMID:6742314, PMID:7149764, PMID:7284977 ; - oboInOwl:hasDbXref UMLS:C0432284, - UMLS:C4551572, - ORPHA:2591 ; oboInOwl:hasExactSynonym "IMF1", "fibromatosis, congenital generalized", "myofibromatosis, infantile, 1", "myofibromatosis, juvenile" ; rdfs:subClassOf OMIMPS:228550 ; + skos:exactMatch UMLS:C0432284, + UMLS:C4551572, + ORPHA:2591 ; biolink:category biolink:Disease . OMIM:228560 a owl:Class ; rdfs:label "fibromatosis, gingival, with distinctive facies" ; IAO:0000142 PMID:1493643, PMID:29538838 ; - oboInOwl:hasDbXref UMLS:C1856761 ; - oboInOwl:hasExactSynonym "fibromatosis, gingival, with distinctive facies" . + oboInOwl:hasExactSynonym "fibromatosis, gingival, with distinctive facies" ; + skos:exactMatch UMLS:C1856761 . OMIM:228800 a owl:Class ; rdfs:label "fibrosclerosis, multifocal" ; @@ -85387,21 +87482,21 @@ OMIM:228800 a owl:Class ; PMID:4699274, PMID:6025229, PMID:6824517 ; - oboInOwl:hasDbXref UMLS:C0494949 ; oboInOwl:hasExactSynonym "fibrosclerosis, multifocal", "mediastinal fibrosis, familial", - "retroperitoneal fibrosis, familial" . + "retroperitoneal fibrosis, familial" ; + skos:exactMatch UMLS:C0494949 . OMIM:228940 a owl:Class ; rdfs:label "fibuloulnar aplasia or hypoplasia with renal abnormalities" ; IAO:0000142 PMID:2773984 ; - oboInOwl:hasDbXref UMLS:C1856727 ; - oboInOwl:hasExactSynonym "fibuloulnar aplasia or hypoplasia with renal abnormalities" . + oboInOwl:hasExactSynonym "fibuloulnar aplasia or hypoplasia with renal abnormalities" ; + skos:exactMatch UMLS:C1856727 . OMIM:228990 a owl:Class ; rdfs:label "fleck retina of kandori" ; - oboInOwl:hasDbXref UMLS:C0271257 ; - oboInOwl:hasExactSynonym "fleck retina of kandori" . + oboInOwl:hasExactSynonym "fleck retina of kandori" ; + skos:exactMatch UMLS:C0271257 . OMIM:229000 a owl:Class ; rdfs:label "KLKB1" ; @@ -85420,7 +87515,6 @@ OMIM:229000 a owl:Class ; PMID:8662673 ; RO:0002525 CHR:9606chr4q35.2 ; RO:0003303 OMIM:612423 ; - oboInOwl:hasDbXref UMLS:C1416681 ; oboInOwl:hasExactSynonym "KLKB1", "fletcher factor", "kallikrein b, plasma, 1", @@ -85428,7 +87522,9 @@ OMIM:229000 a owl:Class ; "prekallikrein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3818 ; - skos:exactMatch HGNC_symbol:KLKB1 ; + skos:exactMatch UMLS:C1416681, + HGNC:6371, + HGNC_symbol:KLKB1 ; biolink:category biolink:Gene . OMIM:229045 a owl:Class ; @@ -85437,10 +87533,10 @@ OMIM:229045 a owl:Class ; PMID:5256372, PMID:8388851, PMID:8433256 ; - oboInOwl:hasDbXref UMLS:C0206067 ; oboInOwl:hasExactSynonym "feh, oral", "focal epithelial hyperplasia, oral", - "heck disease" . + "heck disease" ; + skos:exactMatch UMLS:C0206067 . OMIM:229120 a owl:Class ; rdfs:label "fountain syndrome" ; @@ -85448,9 +87544,9 @@ OMIM:229120 a owl:Class ; PMID:3565469, PMID:4431800, PMID:8897038 ; - oboInOwl:hasDbXref UMLS:C0795944 ; oboInOwl:hasExactSynonym "fountain syndrome", "mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" ; + skos:exactMatch UMLS:C0795944 ; biolink:category biolink:Disease . OMIM:229150 a owl:Class ; @@ -85460,20 +87556,20 @@ OMIM:229150 a owl:Class ; OMIM:229230 a owl:Class ; rdfs:label "fraser-like syndrome" ; IAO:0000142 PMID:1951446 ; - oboInOwl:hasDbXref UMLS:C1856708 ; oboInOwl:hasExactSynonym "fraser-like syndrome", - "fused eyelids, airway anomalies, ovarian cysts, and digital anomalies" . + "fused eyelids, airway anomalies, ovarian cysts, and digital anomalies" ; + skos:exactMatch UMLS:C1856708 . OMIM:229250 a owl:Class ; rdfs:label "freesia flowers, inability to smell" ; - oboInOwl:hasDbXref UMLS:C1856707 ; - oboInOwl:hasExactSynonym "freesia flowers, inability to smell" . + oboInOwl:hasExactSynonym "freesia flowers, inability to smell" ; + skos:exactMatch UMLS:C1856707 . OMIM:229310 a owl:Class ; rdfs:label "friedreich ataxia and congenital glaucoma" ; IAO:0000142 PMID:3351891 ; - oboInOwl:hasDbXref UMLS:C1856688 ; - oboInOwl:hasExactSynonym "friedreich ataxia and congenital glaucoma" . + oboInOwl:hasExactSynonym "friedreich ataxia and congenital glaucoma" ; + skos:exactMatch UMLS:C1856688 . OMIM:229400 a owl:Class ; rdfs:label "frontofacionasal dysplasia" ; @@ -85483,10 +87579,10 @@ OMIM:229400 a owl:Class ; PMID:7332033, PMID:8205327, PMID:9220195 ; - oboInOwl:hasDbXref UMLS:C2931720 ; oboInOwl:hasExactSynonym "ffnd", "frontofacionasal dysostosis", "frontofacionasal dysplasia" ; + skos:exactMatch UMLS:C2931720 ; biolink:category biolink:Disease . OMIM:229500 a owl:Class ; @@ -85494,15 +87590,15 @@ OMIM:229500 a owl:Class ; IAO:0000142 PMID:13723917, PMID:13991334, PMID:4116571 ; - oboInOwl:hasDbXref UMLS:C1856686 ; oboInOwl:hasExactSynonym "fructose and galactose intolerance" ; + skos:exactMatch UMLS:C1856686 ; biolink:category biolink:Disease . OMIM:229650 a owl:Class ; rdfs:label "fructose utilization" ; IAO:0000142 PMID:4431451 ; - oboInOwl:hasDbXref UMLS:C1856672 ; - oboInOwl:hasExactSynonym "fructose utilization" . + oboInOwl:hasExactSynonym "fructose utilization" ; + skos:exactMatch UMLS:C1856672 . OMIM:229850 a owl:Class ; rdfs:label "fryns syndrome" ; @@ -85549,10 +87645,10 @@ OMIM:229850 a owl:Class ; PMID:8599357, PMID:8831132, PMID:9664213 ; - oboInOwl:hasDbXref UMLS:C0220730 ; oboInOwl:hasExactSynonym "FRNS", "diaphragmatic hernia, abnormal face, and distal limb anomalies", "fryns syndrome" ; + skos:exactMatch UMLS:C0220730 ; biolink:category biolink:Disease . OMIM:229900 a owl:Class ; @@ -85566,8 +87662,8 @@ OMIM:229950 a owl:Class ; OMIM:230300 a owl:Class ; rdfs:label "galactorrhea" ; IAO:0000142 PMID:5819452 ; - oboInOwl:hasDbXref UMLS:C3665358 ; - oboInOwl:hasExactSynonym "galactorrhea" . + oboInOwl:hasExactSynonym "galactorrhea" ; + skos:exactMatch UMLS:C3665358 . OMIM:230430 a owl:Class ; IAO:0100001 OMIM:300622 ; @@ -85582,8 +87678,8 @@ OMIM:230450 a owl:Class ; PMID:4852017, PMID:5058793, PMID:8634459 ; - oboInOwl:hasDbXref UMLS:C1856603 ; oboInOwl:hasExactSynonym "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to" ; + skos:exactMatch UMLS:C1856603 ; biolink:category biolink:Disease . OMIM:230500 a owl:Class ; @@ -85622,8 +87718,6 @@ OMIM:230500 a owl:Class ; PMID:7610770, PMID:808736, PMID:812620 ; - oboInOwl:hasDbXref UMLS:C0268271, - UMLS:C1968748 ; oboInOwl:hasExactSynonym "GM1G1", "beta-galactosidase-1 deficiency", "gangliosidosis, generalized gm1, iia 1", @@ -85632,6 +87726,8 @@ OMIM:230500 a owl:Class ; "glb1 deficiency", "gm1-gangliosidosis, iia 1", "gm1-gangliosidosis, iia i, with cardiac involvement" ; + skos:exactMatch UMLS:C0268271, + UMLS:C1968748 ; biolink:category biolink:Disease . OMIM:230600 a owl:Class ; @@ -85650,13 +87746,13 @@ OMIM:230600 a owl:Class ; PMID:4650864, PMID:5031983, PMID:83795 ; - oboInOwl:hasDbXref UMLS:C0268272, - UMLS:C1968746 ; oboInOwl:hasExactSynonym "GM1G2", "gangliosidosis, generalized gm1, iia 2", "gangliosidosis, generalized gm1, juvenile iia", "gangliosidosis, generalized gm1, late-infantile iia", "gm1-gangliosidosis, iia 2" ; + skos:exactMatch UMLS:C0268272, + UMLS:C1968746 ; biolink:category biolink:Disease . OMIM:230650 a owl:Class ; @@ -85683,12 +87779,12 @@ OMIM:230650 a owl:Class ; PMID:816580, PMID:8198123, PMID:99363 ; - oboInOwl:hasDbXref UMLS:C0268273 ; oboInOwl:hasExactSynonym "GM1G3", "gangliosidosis, generalized gm1, iia 3", "gangliosidosis, generalized gm1, adult iia", "gangliosidosis, generalized gm1, chronic iia", "gm1-gangliosidosis, iia 3" ; + skos:exactMatch UMLS:C0268273 ; biolink:category biolink:Disease . OMIM:230700 a owl:Class ; @@ -85717,10 +87813,10 @@ OMIM:230740 a owl:Class ; PMID:8533828, PMID:9180938, PMID:9298746 ; - oboInOwl:hasDbXref UMLS:C0406723 ; oboInOwl:hasExactSynonym "GAPOS", "gapo syndrome", "growth retardation, alopecia, pseudoanodontia, and optic atrophy" ; + skos:exactMatch UMLS:C0406723 ; biolink:category biolink:Disease . OMIM:230750 a owl:Class ; @@ -85738,10 +87834,10 @@ OMIM:230750 a owl:Class ; PMID:7802013, PMID:8465852, PMID:8533813 ; - oboInOwl:hasDbXref UMLS:C0238577, - UMLS:C0265706 ; oboInOwl:hasExactSynonym "abdominal wall defects", - "gastroschisis" . + "gastroschisis" ; + skos:exactMatch UMLS:C0238577, + UMLS:C0265706 . OMIM:230900 a owl:Class ; rdfs:label "gaucher disease, iia 2" ; @@ -85763,13 +87859,13 @@ OMIM:230900 a owl:Class ; PMID:3757304, PMID:4674572, PMID:870871 ; - oboInOwl:hasDbXref UMLS:C0268250, - ORPHA:355, - ORPHA:77260 ; oboInOwl:hasExactSynonym "GD2", "gaucher disease, iia 2", "gaucher disease, acute neuronopathic iia", "gd 2" ; + skos:exactMatch UMLS:C0268250, + ORPHA:355, + ORPHA:77260 ; biolink:category biolink:Disease . OMIM:231000 a owl:Class ; @@ -85804,9 +87900,6 @@ OMIM:231000 a owl:Class ; PMID:8413956, PMID:8544959, PMID:8737974 ; - oboInOwl:hasDbXref UMLS:C0268251, - ORPHA:355, - ORPHA:77261 ; oboInOwl:hasExactSynonym "GD3", "gaucher disease, iia 3", "gaucher disease, iia 3a", @@ -85816,6 +87909,9 @@ OMIM:231000 a owl:Class ; "gaucher disease, norrbottnian iia", "gaucher disease, subacute neuronopathic iia", "gd 3" ; + skos:exactMatch UMLS:C0268251, + ORPHA:355, + ORPHA:77261 ; biolink:category biolink:Disease . OMIM:231005 a owl:Class ; @@ -85829,11 +87925,11 @@ OMIM:231005 a owl:Class ; PMID:7500785, PMID:8544197, PMID:9040001 ; - oboInOwl:hasDbXref UMLS:C1856476, - ORPHA:2072, - ORPHA:355 ; oboInOwl:hasExactSynonym "GD3C", "gaucher disease, iia 3c" ; + skos:exactMatch UMLS:C1856476, + ORPHA:2072, + ORPHA:355 ; biolink:category biolink:Disease . OMIM:231060 a owl:Class ; @@ -85843,16 +87939,16 @@ OMIM:231060 a owl:Class ; PMID:3812578, PMID:4195806, PMID:4442880 ; - oboInOwl:hasDbXref UMLS:C1856466 ; oboInOwl:hasExactSynonym "gardner-silengo-wachtel syndrome", "genitopalatocardiac syndrome", - "male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect" . + "male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect" ; + skos:exactMatch UMLS:C1856466 . OMIM:231080 a owl:Class ; rdfs:label "german syndrome" ; IAO:0000142 PMID:3812590 ; - oboInOwl:hasDbXref UMLS:C3887495 ; - oboInOwl:hasExactSynonym "german syndrome" . + oboInOwl:hasExactSynonym "german syndrome" ; + skos:exactMatch UMLS:C3887495 . OMIM:231100 a owl:Class ; rdfs:label "hemochromatosis, neonatal" ; @@ -85871,13 +87967,13 @@ OMIM:231100 a owl:Class ; PMID:8301429, PMID:8782042, PMID:9285385 ; - oboInOwl:hasDbXref UMLS:C0268059 ; oboInOwl:hasExactSynonym "alloimmune hepatitis, congenital", "giant cell hepatitis, formerly", "hemochromatosis, neonatal", "neonatal hepatitis, formerly", "nh", - "nhc" . + "nhc" ; + skos:exactMatch UMLS:C0268059 . OMIM:231400 a owl:Class ; owl:deprecated true . @@ -85901,9 +87997,9 @@ OMIM:231630 a owl:Class ; PMID:5004710, PMID:782921, PMID:942671 ; - oboInOwl:hasDbXref UMLS:C0008127 ; oboInOwl:hasExactSynonym "chinese restaurant syndrome", - "monosodium glutamate sensitivity" . + "monosodium glutamate sensitivity" ; + skos:exactMatch UMLS:C0008127 . OMIM:231675 a owl:Class ; rdfs:label "ETFDH" ; @@ -85917,21 +88013,22 @@ OMIM:231675 a owl:Class ; PMID:8617498 ; RO:0002525 CHR:9606chr4q32.1 ; RO:0003303 OMIM:231680 ; - oboInOwl:hasDbXref UMLS:C1414473 ; oboInOwl:hasExactSynonym "ETFDH", "electron transfer flavoprotein dehydrogenase", "electron transfer flavoprotein:ubiquinone oxidoreductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2110 ; - skos:exactMatch HGNC_symbol:ETFDH ; + skos:exactMatch UMLS:C1414473, + HGNC:3483, + HGNC_symbol:ETFDH ; biolink:category biolink:Gene . OMIM:231970 a owl:Class ; rdfs:label "gluteal muscles, absence of" ; IAO:0000142 PMID:22146147, PMID:786514 ; - oboInOwl:hasDbXref UMLS:C1856398 ; - oboInOwl:hasExactSynonym "gluteal muscles, absence of" . + oboInOwl:hasExactSynonym "gluteal muscles, absence of" ; + skos:exactMatch UMLS:C1856398 . OMIM:232000 a owl:Class ; rdfs:label "PCCA" ; @@ -85960,14 +88057,15 @@ OMIM:232000 a owl:Class ; PMID:9887338 ; RO:0002525 CHR:9606chr13q32.3 ; RO:0003303 OMIM:606054 ; - oboInOwl:hasDbXref UMLS:C0268579, - UMLS:C1418303 ; oboInOwl:hasExactSynonym "PCCA", "pcca complementation group", "propionyl-coa carboxylase, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5095 ; - skos:exactMatch HGNC_symbol:PCCA ; + skos:exactMatch UMLS:C0268579, + UMLS:C1418303, + HGNC:8653, + HGNC_symbol:PCCA ; biolink:category biolink:Gene . OMIM:232050 a owl:Class ; @@ -85997,14 +88095,15 @@ OMIM:232050 a owl:Class ; PMID:9683601 ; RO:0002525 CHR:9606chr3q22.3 ; RO:0003303 OMIM:606054 ; - oboInOwl:hasDbXref UMLS:C0268579, - UMLS:C1418304 ; oboInOwl:hasExactSynonym "PCCB", "pccbc complementation group", "propionyl-coa carboxylase, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5096 ; - skos:exactMatch HGNC_symbol:PCCB ; + skos:exactMatch UMLS:C0268579, + UMLS:C1418304, + HGNC:8654, + HGNC_symbol:PCCB ; biolink:category biolink:Gene . OMIM:232210 a owl:Class ; @@ -86045,13 +88144,13 @@ OMIM:232220 a owl:Class ; PMID:9428641, PMID:9463334, PMID:9675154 ; - oboInOwl:hasDbXref UMLS:C0268146, - ORPHA:364, - ORPHA:79259 ; oboInOwl:hasExactSynonym "GSD1B", "glucose-6-phosphate transport defect", "glycogen storage disease ib", "gsd ib" ; + skos:exactMatch UMLS:C0268146, + ORPHA:364, + ORPHA:79259 ; biolink:category biolink:Disease . OMIM:232330 a owl:Class ; @@ -86091,13 +88190,6 @@ OMIM:232500 a owl:Class ; PMID:8437594, PMID:8613547, PMID:8830177 ; - oboInOwl:hasDbXref UMLS:C0017923, - UMLS:C1856301, - UMLS:C1856302, - UMLS:C1856303, - UMLS:C1856304, - UMLS:C1856305, - UMLS:C1856306 ; oboInOwl:hasExactSynonym "GSD4", "amylopectinosis", "andersen disease", @@ -86114,13 +88206,20 @@ OMIM:232500 a owl:Class ; "gsd iv, neuromuscular form, congenital", "gsd iv, neuromuscular form, fatal perinatal", "gsd iv, nonprogressive hepatic" ; + skos:exactMatch UMLS:C0017923, + UMLS:C1856301, + UMLS:C1856302, + UMLS:C1856303, + UMLS:C1856304, + UMLS:C1856305, + UMLS:C1856306 ; biolink:category biolink:Disease . OMIM:232900 a owl:Class ; rdfs:label "glycoprotein storage disease" ; IAO:0000142 PMID:5794821 ; - oboInOwl:hasDbXref UMLS:C1856275 ; - oboInOwl:hasExactSynonym "glycoprotein storage disease" . + oboInOwl:hasExactSynonym "glycoprotein storage disease" ; + skos:exactMatch UMLS:C1856275 . OMIM:233270 a owl:Class ; rdfs:label "gombo syndrome" ; @@ -86128,9 +88227,9 @@ OMIM:233270 a owl:Class ; PMID:2705477, PMID:8585577, PMID:9295068 ; - oboInOwl:hasDbXref UMLS:C1856274 ; oboInOwl:hasExactSynonym "gombo syndrome", - "growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia" . + "growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia" ; + skos:exactMatch UMLS:C1856274 . OMIM:233300 a owl:Class ; rdfs:label "ovarian dysgenesis 1" ; @@ -86149,7 +88248,6 @@ OMIM:233300 a owl:Class ; PMID:8230163, PMID:8826428, PMID:9769327 ; - oboInOwl:hasDbXref UMLS:C0949595 ; oboInOwl:hasExactSynonym "ODG1", "gonadal dysgenesis, 20 iia", "ovarian dysgenesis 1", @@ -86158,13 +88256,14 @@ OMIM:233300 a owl:Class ; "ovarian failure, hypergonadotropic", "xx gonadal dysgenesis" ; rdfs:subClassOf OMIMPS:233300 ; + skos:exactMatch UMLS:C0949595 ; biolink:category biolink:Disease . OMIM:233430 a owl:Class ; rdfs:label "gonadal dysgenesis, 10y type, with associated anomalies" ; IAO:0000142 PMID:6158563 ; - oboInOwl:hasDbXref UMLS:C1856272 ; - oboInOwl:hasExactSynonym "gonadal dysgenesis, 10y type, with associated anomalies" . + oboInOwl:hasExactSynonym "gonadal dysgenesis, 10y type, with associated anomalies" ; + skos:exactMatch UMLS:C1856272 . OMIM:233450 a owl:Class ; rdfs:label "goodpasture syndrome" ; @@ -86176,8 +88275,8 @@ OMIM:233450 a owl:Class ; PMID:563692, PMID:7158437, PMID:9410904 ; - oboInOwl:hasDbXref UMLS:C0403529 ; - oboInOwl:hasExactSynonym "goodpasture syndrome" . + oboInOwl:hasExactSynonym "goodpasture syndrome" ; + skos:exactMatch UMLS:C0403529 . OMIM:233500 a owl:Class ; IAO:0100001 OMIM:612289 ; @@ -86188,9 +88287,9 @@ OMIM:233650 a owl:Class ; IAO:0000142 PMID:18463379, PMID:20489056, PMID:644530 ; - oboInOwl:hasDbXref UMLS:C2673536 ; oboInOwl:hasExactSynonym "CCHIDG", "combined cellular and humoral immune defects with granulomas" ; + skos:exactMatch UMLS:C2673536 ; biolink:category biolink:Disease . OMIM:233670 a owl:Class ; @@ -86205,31 +88304,31 @@ OMIM:233800 a owl:Class ; PMID:1928243, PMID:3390419, PMID:5961372 ; - oboInOwl:hasDbXref UMLS:C1856244 ; oboInOwl:hasExactSynonym "grouped pigmentation of retinal pigment epithelium", "grouped pigmentation of the macula", - "grouped pigmentation of the retina" . + "grouped pigmentation of the retina" ; + skos:exactMatch UMLS:C1856244 . OMIM:233805 a owl:Class ; rdfs:label "growth factors, combined defect of" ; IAO:0000142 PMID:2477323, PMID:7152896 ; - oboInOwl:hasDbXref UMLS:C2931279 ; oboInOwl:hasExactSynonym "growth factors, combined defect of", "insulin, insulin-like growth factor i, and epidermal growth factor deficiency", - "werner-like syndrome due to combined growth factor deficiency" . + "werner-like syndrome due to combined growth factor deficiency" ; + skos:exactMatch UMLS:C2931279 . OMIM:233810 a owl:Class ; rdfs:label "growth retardation, small and puffy hands and feet, and eczema" ; IAO:0000142 PMID:1378778 ; - oboInOwl:hasDbXref UMLS:C1856242 ; - oboInOwl:hasExactSynonym "growth retardation, small and puffy hands and feet, and eczema" . + oboInOwl:hasExactSynonym "growth retardation, small and puffy hands and feet, and eczema" ; + skos:exactMatch UMLS:C1856242 . OMIM:234030 a owl:Class ; rdfs:label "hair defect with photosensitivity and mental retardation" ; IAO:0000142 PMID:501478 ; - oboInOwl:hasDbXref UMLS:C1856241 ; - oboInOwl:hasExactSynonym "hair defect with photosensitivity and mental retardation" . + oboInOwl:hasExactSynonym "hair defect with photosensitivity and mental retardation" ; + skos:exactMatch UMLS:C1856241 . OMIM:234100 a owl:Class ; rdfs:label "hallermann-streiff syndrome" ; @@ -86254,32 +88353,32 @@ OMIM:234100 a owl:Class ; PMID:7864053, PMID:828926, PMID:8585575 ; - oboInOwl:hasDbXref UMLS:C0018522 ; oboInOwl:hasExactSynonym "HSS", "francois dyscephalic syndrome", "hallermann-streiff syndrome" ; + skos:exactMatch UMLS:C0018522 ; biolink:category biolink:Disease . OMIM:234250 a owl:Class ; rdfs:label "hall-riggs mental retardation syndrome" ; IAO:0000142 PMID:11185076 ; - oboInOwl:hasDbXref UMLS:C1856198 ; - oboInOwl:hasExactSynonym "hall-riggs mental retardation syndrome" . + oboInOwl:hasExactSynonym "hall-riggs mental retardation syndrome" ; + skos:exactMatch UMLS:C1856198 . OMIM:234280 a owl:Class ; rdfs:label "hallux varus and preaxial polysyndactyly" ; IAO:0000142 PMID:6255798 ; - oboInOwl:hasDbXref UMLS:C1856197 ; - oboInOwl:hasExactSynonym "hallux varus and preaxial polysyndactyly" . + oboInOwl:hasExactSynonym "hallux varus and preaxial polysyndactyly" ; + skos:exactMatch UMLS:C1856197 . OMIM:234300 a owl:Class ; rdfs:label "halo nevi" ; IAO:0000142 PMID:11850948, PMID:5835331, PMID:9692308 ; - oboInOwl:hasDbXref UMLS:C0474824 ; oboInOwl:hasExactSynonym "halo nevi", - "leukoderma acquisitum centrifugum of sutton" . + "leukoderma acquisitum centrifugum of sutton" ; + skos:exactMatch UMLS:C0474824 . OMIM:234350 a owl:Class ; rdfs:label "halothane hepatitis" ; @@ -86293,8 +88392,8 @@ OMIM:234350 a owl:Class ; PMID:5285377, PMID:5414289, PMID:7207555 ; - oboInOwl:hasDbXref UMLS:C0241913 ; - oboInOwl:hasExactSynonym "halothane hepatitis" . + oboInOwl:hasExactSynonym "halothane hepatitis" ; + skos:exactMatch UMLS:C0241913 . OMIM:234500 a owl:Class ; rdfs:label "hartnup disorder" ; @@ -86320,11 +88419,11 @@ OMIM:234500 a owl:Class ; PMID:836052, PMID:9060407, PMID:9060408 ; - oboInOwl:hasDbXref UMLS:C0018609, - ORPHA:2116 ; oboInOwl:hasExactSynonym "HND", "hartnup disease", "hartnup disorder" ; + skos:exactMatch UMLS:C0018609, + ORPHA:2116 ; biolink:category biolink:Disease . OMIM:234580 a owl:Class ; @@ -86333,12 +88432,12 @@ OMIM:234580 a owl:Class ; PMID:12514367, PMID:2063923, PMID:26387595 ; - oboInOwl:hasDbXref UMLS:C4551980 ; oboInOwl:hasExactSynonym "HMLR1", "hearing loss, sensorineural, with enamel hypoplasia and nail defects", "heimler syndrome 1", "peroxisome biogenesis disorder 1c" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C4551980 ; biolink:category biolink:Disease . OMIM:234700 a owl:Class ; @@ -86363,33 +88462,33 @@ OMIM:234700 a owl:Class ; PMID:8904349, PMID:9041950, PMID:917056 ; - oboInOwl:hasDbXref UMLS:C0149530 ; - oboInOwl:hasExactSynonym "heart block, congenital" . + oboInOwl:hasExactSynonym "heart block, congenital" ; + skos:exactMatch UMLS:C0149530 . OMIM:234750 a owl:Class ; rdfs:label "heart, malformation of" ; - oboInOwl:hasDbXref UMLS:C0018798 ; - oboInOwl:hasExactSynonym "heart, malformation of" . + oboInOwl:hasExactSynonym "heart, malformation of" ; + skos:exactMatch UMLS:C0018798 . OMIM:234800 a owl:Class ; rdfs:label "hemangiomatosis, cutaneous, with associated features" ; - oboInOwl:hasDbXref UMLS:C0220738 ; - oboInOwl:hasExactSynonym "hemangiomatosis, cutaneous, with associated features" . + oboInOwl:hasExactSynonym "hemangiomatosis, cutaneous, with associated features" ; + skos:exactMatch UMLS:C0220738 . OMIM:234820 a owl:Class ; rdfs:label "hemangiopericytoma, malignant" ; IAO:0000142 PMID:3338042 ; - oboInOwl:hasDbXref UMLS:C0334542 ; - oboInOwl:hasExactSynonym "hemangiopericytoma, malignant" . + oboInOwl:hasExactSynonym "hemangiopericytoma, malignant" ; + skos:exactMatch UMLS:C0334542 . OMIM:235255 a owl:Class ; rdfs:label "mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly" ; IAO:0000142 PMID:11746030, PMID:11746031, PMID:8256813 ; - oboInOwl:hasDbXref UMLS:C1856159 ; oboInOwl:hasExactSynonym "mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly", "urioste syndrome" ; + skos:exactMatch UMLS:C1856159 ; biolink:category biolink:Disease . OMIM:235360 a owl:Class ; @@ -86400,8 +88499,8 @@ OMIM:235370 a owl:Class ; rdfs:label "hemolytic anemia with thermal sensitivity of red cells" ; IAO:0000142 PMID:1191563, PMID:1244919 ; - oboInOwl:hasDbXref UMLS:C1856158 ; - oboInOwl:hasExactSynonym "hemolytic anemia with thermal sensitivity of red cells" . + oboInOwl:hasExactSynonym "hemolytic anemia with thermal sensitivity of red cells" ; + skos:exactMatch UMLS:C1856158 . OMIM:235400 a owl:Class ; rdfs:label "hemolytic uremic syndrome, atypical, susceptibility to, 1" ; @@ -86465,29 +88564,29 @@ OMIM:235400 a owl:Class ; PMID:9811382, PMID:9828245, PMID:9848786 ; - oboInOwl:hasDbXref UMLS:C1856143, - UMLS:C2749604 ; oboInOwl:hasExactSynonym "AHUS1", "ahus, susceptibility to, 1", "hemolytic uremic syndrome, atypical, susceptibility to, 1", "hemolytic uremic syndrome, typical" ; rdfs:subClassOf OMIMPS:235400 ; + skos:exactMatch UMLS:C1856143, + UMLS:C2749604 ; biolink:category biolink:Disease . OMIM:235500 a owl:Class ; rdfs:label "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" ; IAO:0000142 PMID:6020748 ; - oboInOwl:hasDbXref UMLS:C0020807 ; - oboInOwl:hasExactSynonym "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" . + oboInOwl:hasExactSynonym "hemosiderosis, pulmonary, with deficiency of gamma-a globulin" ; + skos:exactMatch UMLS:C0020807 . OMIM:235550 a owl:Class ; rdfs:label "hepatic venoocclusive disease with immunodeficiency" ; IAO:0000142 PMID:1249685, PMID:14868767, PMID:16648851 ; - oboInOwl:hasDbXref UMLS:C1856128 ; oboInOwl:hasExactSynonym "VODI", "hepatic venoocclusive disease with immunodeficiency" ; + skos:exactMatch UMLS:C1856128 ; biolink:category biolink:Disease . OMIM:235600 a owl:Class ; @@ -86509,8 +88608,8 @@ OMIM:235700 a owl:Class ; PMID:6848140, PMID:7234862, PMID:7655856 ; - oboInOwl:hasDbXref UMLS:C3150343 ; oboInOwl:hasExactSynonym "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" ; + skos:exactMatch UMLS:C3150343 ; biolink:category biolink:Disease . OMIM:235735 a owl:Class ; @@ -86520,20 +88619,20 @@ OMIM:235735 a owl:Class ; OMIM:235740 a owl:Class ; rdfs:label "hirschsprung disease with polydactyly, renal agenesis, and deafness" ; IAO:0000142 PMID:3351909 ; - oboInOwl:hasDbXref UMLS:C1856112 ; - oboInOwl:hasExactSynonym "hirschsprung disease with polydactyly, renal agenesis, and deafness" . + oboInOwl:hasExactSynonym "hirschsprung disease with polydactyly, renal agenesis, and deafness" ; + skos:exactMatch UMLS:C1856112 . OMIM:235750 a owl:Class ; rdfs:label "hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect" ; IAO:0000142 PMID:1219116 ; - oboInOwl:hasDbXref UMLS:C1856111 ; - oboInOwl:hasExactSynonym "hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect" . + oboInOwl:hasExactSynonym "hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect" ; + skos:exactMatch UMLS:C1856111 . OMIM:235760 a owl:Class ; rdfs:label "hirschsprung disease with hypoplastic nails and dysmorphic facial features" ; IAO:0000142 PMID:3236354 ; - oboInOwl:hasDbXref UMLS:C1856110 ; - oboInOwl:hasExactSynonym "hirschsprung disease with hypoplastic nails and dysmorphic facial features" . + oboInOwl:hasExactSynonym "hirschsprung disease with hypoplastic nails and dysmorphic facial features" ; + skos:exactMatch UMLS:C1856110 . OMIM:235830 a owl:Class ; rdfs:label "histidinuria due to a renal tubular defect" ; @@ -86541,15 +88640,15 @@ OMIM:235830 a owl:Class ; PMID:1481808, PMID:4820585, PMID:6796774 ; - oboInOwl:hasDbXref UMLS:C0268642 ; oboInOwl:hasExactSynonym "histidinuria due to a renal tubular defect" ; + skos:exactMatch UMLS:C0268642 ; biolink:category biolink:Disease . OMIM:235900 a owl:Class ; rdfs:label "histiocytosis, familial lipochrome" ; IAO:0000142 PMID:13958700 ; - oboInOwl:hasDbXref UMLS:C0334125 ; oboInOwl:hasExactSynonym "histiocytosis, familial lipochrome" ; + skos:exactMatch UMLS:C0334125 ; biolink:category biolink:Disease . OMIM:236110 a owl:Class ; @@ -86559,8 +88658,8 @@ OMIM:236110 a owl:Class ; PMID:6741992, PMID:8456859, PMID:8882777 ; - oboInOwl:hasDbXref UMLS:C1856095 ; - oboInOwl:hasExactSynonym "holzgreve syndrome" . + oboInOwl:hasExactSynonym "holzgreve syndrome" ; + skos:exactMatch UMLS:C1856095 . OMIM:236130 a owl:Class ; rdfs:label "homocarnosinosis" ; @@ -86572,9 +88671,9 @@ OMIM:236130 a owl:Class ; PMID:6616870, PMID:7108529, PMID:842287 ; - oboInOwl:hasDbXref UMLS:C0268632 ; oboInOwl:hasExactSynonym "homocarnosinase deficiency", - "homocarnosinosis" . + "homocarnosinosis" ; + skos:exactMatch UMLS:C0268632 . OMIM:236250 a owl:Class ; rdfs:label "homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity" ; @@ -86623,12 +88722,12 @@ OMIM:236250 a owl:Class ; PMID:9244205, PMID:9341863, PMID:9545395 ; - oboInOwl:hasDbXref UMLS:C1856058, - UMLS:C1856059 ; oboInOwl:hasExactSynonym "homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity", "methylenetetrahydrofolate reductase deficiency", "mthfr deficiency", "mthfr deficiency, thermolabile iia" ; + skos:exactMatch UMLS:C1856058, + UMLS:C1856059 ; biolink:category biolink:Disease . OMIM:236270 a owl:Class ; @@ -86642,45 +88741,45 @@ OMIM:236270 a owl:Class ; PMID:8968737, PMID:9427140, PMID:9501215 ; - oboInOwl:hasDbXref UMLS:C1856057 ; oboInOwl:hasExactSynonym "HMAE", "homocystinuria-megaloblastic anemia due to defect 1n cobalamin metabolism, cble complementation iia", "homocystinuria-megaloblastic anemia, cble complementation iia", "methylcobalamin deficiency, cble iia", "vitamin b12-responsive homocystinuria, cble iia" ; + skos:exactMatch UMLS:C1856057 ; biolink:category biolink:Disease . OMIM:236300 a owl:Class ; rdfs:label "hooft disease" ; IAO:0000142 PMID:13959184 ; - oboInOwl:hasDbXref UMLS:C0268479 ; - oboInOwl:hasExactSynonym "hooft disease" . + oboInOwl:hasExactSynonym "hooft disease" ; + skos:exactMatch UMLS:C0268479 . OMIM:236400 a owl:Class ; rdfs:label "humeroradial synostosis" ; IAO:0000142 PMID:2669480, PMID:5488995 ; - oboInOwl:hasDbXref UMLS:C1856055, - UMLS:C2930865 ; oboInOwl:hasExactSynonym "humeroradial synostosis", "humeroradial/multiple synostosis syndrome" ; + skos:exactMatch UMLS:C1856055, + UMLS:C2930865 ; biolink:category biolink:Disease . OMIM:236410 a owl:Class ; rdfs:label "humeroradial synostosis with craniofacial anomalies" ; IAO:0000142 PMID:17304553 ; - oboInOwl:hasDbXref UMLS:C1968717 ; - oboInOwl:hasExactSynonym "humeroradial synostosis with craniofacial anomalies" . + oboInOwl:hasExactSynonym "humeroradial synostosis with craniofacial anomalies" ; + skos:exactMatch UMLS:C1968717 . OMIM:236450 a owl:Class ; rdfs:label "hutterite cerebroosteonephrodysplasia syndrome" ; IAO:0000142 PMID:4061488, PMID:9375716, PMID:9375717 ; - oboInOwl:hasDbXref UMLS:C1856054 ; oboInOwl:hasExactSynonym "cerebroosteonephosis syndrome", "cond", - "hutterite cerebroosteonephrodysplasia syndrome" . + "hutterite cerebroosteonephrodysplasia syndrome" ; + skos:exactMatch UMLS:C1856054 . OMIM:236490 a owl:Class ; IAO:0100001 OMIM:228600 ; @@ -86693,21 +88792,21 @@ OMIM:236635 a owl:Class ; PMID:3498797, PMID:7328410, PMID:8471217 ; - oboInOwl:hasDbXref UMLS:C0265216 ; oboInOwl:hasExactSynonym "aqueductal stenosis", - "hydrocephalus due to congenital stenosis of aqueduct of sylvius" . + "hydrocephalus due to congenital stenosis of aqueduct of sylvius" ; + skos:exactMatch UMLS:C0265216 . OMIM:236640 a owl:Class ; rdfs:label "hydrocephalus with associated malformations" ; IAO:0000142 PMID:2764038 ; - oboInOwl:hasDbXref UMLS:C1856052 ; - oboInOwl:hasExactSynonym "hydrocephalus with associated malformations" . + oboInOwl:hasExactSynonym "hydrocephalus with associated malformations" ; + skos:exactMatch UMLS:C1856052 . OMIM:236660 a owl:Class ; rdfs:label "hydrocephalus, tall stature, joint laxity, and kyphoscoliosis" ; IAO:0000142 PMID:2918526 ; - oboInOwl:hasDbXref UMLS:C1856051 ; - oboInOwl:hasExactSynonym "hydrocephalus, tall stature, joint laxity, and kyphoscoliosis" . + oboInOwl:hasExactSynonym "hydrocephalus, tall stature, joint laxity, and kyphoscoliosis" ; + skos:exactMatch UMLS:C1856051 . OMIM:236690 a owl:Class ; rdfs:label "hydrocephalus, normal-pressure, 1" ; @@ -86715,9 +88814,9 @@ OMIM:236690 a owl:Class ; PMID:21704338, PMID:31004071, PMID:6696655 ; - oboInOwl:hasDbXref UMLS:C5231392 ; oboInOwl:hasExactSynonym "HYDNP1", "hydrocephalus, normal-pressure, 1" ; + skos:exactMatch UMLS:C5231392 ; biolink:category biolink:Disease . OMIM:236750 a owl:Class ; @@ -86734,14 +88833,14 @@ OMIM:236750 a owl:Class ; PMID:9029003, PMID:9516118, PMID:9667408 ; - oboInOwl:hasDbXref UMLS:C0455988, - ORPHA:1041, - ORPHA:163596, - ORPHA:363999 ; oboInOwl:hasExactSynonym "NIHF", "hemoglobin h hydrops fetalis syndrome", "hydrops fetalis, alpha-thalassemia-related", "hydrops fetalis, nonimmune" ; + skos:exactMatch UMLS:C0455988, + ORPHA:1041, + ORPHA:163596, + ORPHA:363999 ; biolink:category biolink:Disease . OMIM:236795 a owl:Class ; @@ -86749,16 +88848,16 @@ OMIM:236795 a owl:Class ; IAO:0000142 PMID:1625099, PMID:1956714, PMID:9568924 ; - oboInOwl:hasDbXref UMLS:C0342737 ; oboInOwl:hasExactSynonym "3-hydroxyisobutyric aciduria" ; + skos:exactMatch UMLS:C0342737 ; biolink:category biolink:Disease . OMIM:236900 a owl:Class ; rdfs:label "hydroxylysinuria" ; IAO:0000142 PMID:4192000, PMID:5765982 ; - oboInOwl:hasDbXref UMLS:C1855986 ; oboInOwl:hasExactSynonym "hydroxylysinuria" ; + skos:exactMatch UMLS:C1855986 ; biolink:category biolink:Disease . OMIM:237000 a owl:Class ; @@ -86768,15 +88867,15 @@ OMIM:237000 a owl:Class ; PMID:511192, PMID:6015898, PMID:9063421 ; - oboInOwl:hasDbXref UMLS:C0268531 ; oboInOwl:hasExactSynonym "4-hydroxy-l-proline oxidase deficiency", - "hydroxyprolinemia" . + "hydroxyprolinemia" ; + skos:exactMatch UMLS:C0268531 . OMIM:237100 a owl:Class ; rdfs:label "hymen, imperforate" ; IAO:0000142 PMID:19987443 ; - oboInOwl:hasDbXref UMLS:C0152436 ; - oboInOwl:hasExactSynonym "hymen, imperforate" . + oboInOwl:hasExactSynonym "hymen, imperforate" ; + skos:exactMatch UMLS:C0152436 . OMIM:237300 a owl:Class ; rdfs:label "carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to" ; @@ -86804,25 +88903,25 @@ OMIM:237300 a owl:Class ; PMID:8273985, PMID:8486760, PMID:9711878 ; - oboInOwl:hasDbXref UMLS:C4082171 ; oboInOwl:hasExactSynonym "carbamoyl phosphate synthetase 1 deficiency", "carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to", "cps 1 deficiency" ; + skos:exactMatch UMLS:C4082171 ; biolink:category biolink:Disease . OMIM:237400 a owl:Class ; rdfs:label "hyper-beta-alaninemia" ; IAO:0000142 PMID:17926374, PMID:7936305 ; - oboInOwl:hasDbXref UMLS:C0268630 ; oboInOwl:hasExactSynonym "hyper-beta-alaninemia", - "hyperalaninemia" . + "hyperalaninemia" ; + skos:exactMatch UMLS:C0268630 . OMIM:237550 a owl:Class ; rdfs:label "hyperbilirubinemia, conjugated, iia 3" ; IAO:0000142 PMID:1175891 ; - oboInOwl:hasDbXref UMLS:C0400964 ; - oboInOwl:hasExactSynonym "hyperbilirubinemia, conjugated, iia 3" . + oboInOwl:hasExactSynonym "hyperbilirubinemia, conjugated, iia 3" ; + skos:exactMatch UMLS:C0400964 . OMIM:237800 a owl:Class ; rdfs:label "hyperbilirubinemia, shunt, primary" ; @@ -86832,9 +88931,9 @@ OMIM:237800 a owl:Class ; PMID:16718801, PMID:467932, PMID:4688869 ; - oboInOwl:hasDbXref UMLS:C3550398 ; oboInOwl:hasExactSynonym "PSHB", "hyperbilirubinemia, shunt, primary" ; + skos:exactMatch UMLS:C3550398 ; biolink:category biolink:Disease . OMIM:237900 a owl:Class ; @@ -86848,13 +88947,13 @@ OMIM:237900 a owl:Class ; PMID:2029918, PMID:23014115, PMID:3177302 ; - oboInOwl:hasDbXref UMLS:C0270210, - UMLS:C0270215 ; oboInOwl:hasExactSynonym "HBLRTFN", "breast milk jaundice", "hyperbilirubinemia, transient familial neonatal", "lucey-driscoll syndrome" ; rdfs:subClassOf OMIMPS:237450 ; + skos:exactMatch UMLS:C0270210, + UMLS:C0270215 ; biolink:category biolink:Disease . OMIM:238200 a owl:Class ; @@ -86889,14 +88988,15 @@ OMIM:238300 a owl:Class ; PMID:7945295 ; RO:0002525 CHR:9606chr9p24.1 ; RO:0003303 OMIM:605899 ; - oboInOwl:hasDbXref UMLS:C1415099 ; oboInOwl:hasExactSynonym "GLDC", "glycine cleavage system p protein", "glycine decarboxylase", "glycine dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2731 ; - skos:exactMatch HGNC_symbol:GLDC ; + skos:exactMatch UMLS:C1415099, + HGNC:4313, + HGNC_symbol:GLDC ; biolink:category biolink:Gene . OMIM:238310 a owl:Class ; @@ -86916,13 +89016,14 @@ OMIM:238310 a owl:Class ; PMID:9621520 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:605899 ; - oboInOwl:hasDbXref UMLS:C1412390 ; oboInOwl:hasExactSynonym "AMT", "aminomethyltransferase", "glycine cleavage system t protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:275 ; - skos:exactMatch HGNC_symbol:AMT ; + skos:exactMatch UMLS:C1412390, + HGNC:473, + HGNC_symbol:AMT ; biolink:category biolink:Gene . OMIM:238320 a owl:Class ; @@ -86947,9 +89048,6 @@ OMIM:238320 a owl:Class ; PMID:8923827, PMID:975888, PMID:9817592 ; - oboInOwl:hasDbXref UMLS:C0266432, - UMLS:C2673497, - UMLS:C3668935 ; oboInOwl:hasExactSynonym "hypergonadotropic hypogonadism, male, due to lhcgr defect", "leydig cell agenesis", "leydig cell hypoplasia with male pseudohermaphroditism", @@ -86958,6 +89056,9 @@ OMIM:238320 a owl:Class ; "leydig cell hypoplasia, complete", "leydig cell hypoplasia, partial", "luteinizing hormone resistance, female" ; + skos:exactMatch UMLS:C0266432, + UMLS:C2673497, + UMLS:C3668935 ; biolink:category biolink:Disease . OMIM:238330 a owl:Class ; @@ -86972,12 +89073,13 @@ OMIM:238330 a owl:Class ; PMID:6790577 ; RO:0002525 CHR:9606chr16q23.2 ; RO:0003303 OMIM:605899 ; - oboInOwl:hasDbXref UMLS:C1415025 ; oboInOwl:hasExactSynonym "GCSH", "glycine cleavage system h protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2653 ; - skos:exactMatch HGNC_symbol:GCSH ; + skos:exactMatch UMLS:C1415025, + HGNC:4208, + HGNC_symbol:GCSH ; biolink:category biolink:Gene . OMIM:238331 a owl:Class ; @@ -87010,7 +89112,6 @@ OMIM:238331 a owl:Class ; PMID:9934985 ; RO:0002525 CHR:9606chr7q31.1 ; RO:0003303 OMIM:246900 ; - oboInOwl:hasDbXref UMLS:C1414063 ; oboInOwl:hasExactSynonym "DLD", "branched chain alpha-keto acid dehydrogenase complex, e3 component", "diaphorase", @@ -87023,23 +89124,25 @@ OMIM:238331 a owl:Class ; "pyruvate dehydrogenase component e3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1738 ; - skos:exactMatch HGNC_symbol:DLD ; + skos:exactMatch UMLS:C1414063, + HGNC:2898, + HGNC_symbol:DLD ; biolink:category biolink:Gene . OMIM:238340 a owl:Class ; rdfs:label "hyperleucine-isoleucinemia" ; - oboInOwl:hasDbXref UMLS:C0268574 ; - oboInOwl:hasExactSynonym "hyperleucine-isoleucinemia" . + oboInOwl:hasExactSynonym "hyperleucine-isoleucinemia" ; + skos:exactMatch UMLS:C0268574 . OMIM:238350 a owl:Class ; rdfs:label "hyperlexia" ; IAO:0000142 PMID:14715131, PMID:3226648, PMID:4048337 ; - oboInOwl:hasDbXref UMLS:C1855928 ; oboInOwl:hasExactSynonym "compulsive reading", "hyperlexia", - "precocious reading" . + "precocious reading" ; + skos:exactMatch UMLS:C1855928 . OMIM:238400 a owl:Class ; IAO:0100001 OMIM:144650 ; @@ -87052,28 +89155,28 @@ OMIM:238500 a owl:Class ; OMIM:238710 a owl:Class ; rdfs:label "hyperlysinemia due to defect 1n lysine transport into mitochondria" ; IAO:0000142 PMID:3099081 ; - oboInOwl:hasDbXref UMLS:C1855927 ; - oboInOwl:hasExactSynonym "hyperlysinemia due to defect 1n lysine transport into mitochondria" . + oboInOwl:hasExactSynonym "hyperlysinemia due to defect 1n lysine transport into mitochondria" ; + skos:exactMatch UMLS:C1855927 . OMIM:238750 a owl:Class ; rdfs:label "hyperlysinuria with hyperammonemia" ; IAO:0000142 PMID:5033744 ; - oboInOwl:hasDbXref UMLS:C0268555 ; oboInOwl:hasExactSynonym "hyperlysinemia, periodic", - "hyperlysinuria with hyperammonemia" . + "hyperlysinuria with hyperammonemia" ; + skos:exactMatch UMLS:C0268555 . OMIM:238800 a owl:Class ; rdfs:label "hypermetabolism due to defect 1n mitochondria" ; IAO:0000142 PMID:14467237, PMID:6058143, PMID:608115 ; - oboInOwl:hasDbXref UMLS:C1855926 ; - oboInOwl:hasExactSynonym "hypermetabolism due to defect 1n mitochondria" . + oboInOwl:hasExactSynonym "hypermetabolism due to defect 1n mitochondria" ; + skos:exactMatch UMLS:C1855926 . OMIM:238950 a owl:Class ; rdfs:label "hyperopia, high" ; - oboInOwl:hasDbXref UMLS:C1855925 ; - oboInOwl:hasExactSynonym "hyperopia, high" . + oboInOwl:hasExactSynonym "hyperopia, high" ; + skos:exactMatch UMLS:C1855925 . OMIM:239100 a owl:Class ; rdfs:label "van buchem disease" ; @@ -87090,19 +89193,19 @@ OMIM:239100 a owl:Class ; PMID:6323069, PMID:9463328 ; RO:0002525 CHR:9606chr17q21.31 ; - oboInOwl:hasDbXref UMLS:C0432272 ; oboInOwl:hasExactSynonym "VBCH", "endosteal hyperostosis, autosomal recessive", "hyperostosis corticalis generalisata", "hyperphosphatasemia tarda", "van buchem disease" ; + skos:exactMatch UMLS:C0432272 ; biolink:category biolink:Disease . OMIM:239199 a owl:Class ; rdfs:label "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria" ; IAO:0000142 PMID:2167460 ; - oboInOwl:hasDbXref UMLS:C1855924 ; - oboInOwl:hasExactSynonym "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria" . + oboInOwl:hasExactSynonym "hyperparathyroidism, neonatal self-limited primary, with hypercalciuria" ; + skos:exactMatch UMLS:C1855924 . OMIM:239200 a owl:Class ; rdfs:label "hyperparathyroidism, neonatal severe" ; @@ -87119,19 +89222,19 @@ OMIM:239200 a owl:Class ; PMID:830920, PMID:8675635, PMID:9642634 ; - oboInOwl:hasDbXref UMLS:C1832615 ; oboInOwl:hasExactSynonym "NSHPT", "hyperparathyroidism, neonatal severe", "hyperparathyroidism, neonatal severe primary", "nsph" ; rdfs:subClassOf OMIMPS:145000 ; + skos:exactMatch UMLS:C1832615 ; biolink:category biolink:Disease . OMIM:239350 a owl:Class ; rdfs:label "hyperphosphatemia, polyuria, and seizures" ; IAO:0000142 PMID:1111685 ; - oboInOwl:hasDbXref UMLS:C1855922 ; - oboInOwl:hasExactSynonym "hyperphosphatemia, polyuria, and seizures" . + oboInOwl:hasExactSynonym "hyperphosphatemia, polyuria, and seizures" ; + skos:exactMatch UMLS:C1855922 . OMIM:239400 a owl:Class ; owl:deprecated true . @@ -87155,18 +89258,18 @@ OMIM:239500 a owl:Class ; PMID:5706039, PMID:8803768, PMID:9385373 ; - oboInOwl:hasDbXref UMLS:C0268529 ; oboInOwl:hasExactSynonym "HYRPRO1", "hpi", "hyperprolinemia, iia 1", "proline oxidase deficiency" ; + skos:exactMatch UMLS:C0268529 ; biolink:category biolink:Disease . OMIM:239711 a owl:Class ; rdfs:label "hypertelorism and tetralogy of fallot" ; IAO:0000142 PMID:2333881 ; - oboInOwl:hasDbXref UMLS:C1855903 ; - oboInOwl:hasExactSynonym "hypertelorism and tetralogy of fallot" . + oboInOwl:hasExactSynonym "hypertelorism and tetralogy of fallot" ; + skos:exactMatch UMLS:C1855903 . OMIM:239800 a owl:Class ; rdfs:label "hypertelorism, microtia, facial clefting syndrome" ; @@ -87174,17 +89277,17 @@ OMIM:239800 a owl:Class ; PMID:4309010, PMID:7143395, PMID:987013 ; - oboInOwl:hasDbXref UMLS:C0220742 ; oboInOwl:hasExactSynonym "hmc syndrome", "hypertelorism, microtia, facial clefting syndrome" ; + skos:exactMatch UMLS:C0220742 ; biolink:category biolink:Disease . OMIM:239840 a owl:Class ; rdfs:label "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" ; IAO:0000142 PMID:1666396, PMID:8281287 ; - oboInOwl:hasDbXref UMLS:C1855902 ; - oboInOwl:hasExactSynonym "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" . + oboInOwl:hasExactSynonym "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" ; + skos:exactMatch UMLS:C1855902 . OMIM:239850 a owl:Class ; rdfs:label "cantu syndrome" ; @@ -87200,22 +89303,22 @@ OMIM:239850 a owl:Class ; PMID:7076246, PMID:8957508, PMID:9056550 ; - oboInOwl:hasDbXref UMLS:C0795905 ; oboInOwl:hasExactSynonym "cantu syndrome", "hypertrichotic osteochondrodysplasia" ; + skos:exactMatch UMLS:C0795905 ; biolink:category biolink:Disease . OMIM:239900 a owl:Class ; rdfs:label "hypertrophic neuropathy and cataract" ; IAO:0000142 PMID:4298845 ; - oboInOwl:hasDbXref UMLS:C1855885 ; - oboInOwl:hasExactSynonym "hypertrophic neuropathy and cataract" . + oboInOwl:hasExactSynonym "hypertrophic neuropathy and cataract" ; + skos:exactMatch UMLS:C1855885 . OMIM:240000 a owl:Class ; rdfs:label "hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase" ; IAO:0000142 PMID:5782823 ; - oboInOwl:hasDbXref UMLS:C1855884 ; - oboInOwl:hasExactSynonym "hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase" . + oboInOwl:hasExactSynonym "hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase" ; + skos:exactMatch UMLS:C1855884 . OMIM:240100 a owl:Class ; owl:deprecated true . @@ -87224,8 +89327,8 @@ OMIM:240150 a owl:Class ; rdfs:label "hypervitaminosis a, susceptibility to" ; IAO:0000142 PMID:3655980, PMID:6644452 ; - oboInOwl:hasDbXref UMLS:C1855883 ; - oboInOwl:hasExactSynonym "hypervitaminosis a, susceptibility to" . + oboInOwl:hasExactSynonym "hypervitaminosis a, susceptibility to" ; + skos:exactMatch UMLS:C1855883 . OMIM:240200 a owl:Class ; rdfs:label "hypoadrenocorticism, familial" ; @@ -87237,11 +89340,11 @@ OMIM:240200 a owl:Class ; PMID:18301444, PMID:21032374, PMID:5702233 ; - oboInOwl:hasDbXref UMLS:C1868690 ; oboInOwl:hasExactSynonym "addison disease", "adrenal aplasia", "adrenal hypoplasia", "hypoadrenocorticism, familial" ; + skos:exactMatch UMLS:C1868690 ; biolink:category biolink:Disease . OMIM:240500 a owl:Class ; @@ -87250,34 +89353,34 @@ OMIM:240500 a owl:Class ; PMID:16007087, PMID:16049503, PMID:18981294 ; - oboInOwl:hasDbXref UMLS:C3150354 ; oboInOwl:hasExactSynonym "CVID2", "antibody deficiency due to taci defect", "hypogammaglobulinemia due to taci deficiency", "immunodeficiency, common variable, 2" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C3150354 ; biolink:category biolink:Disease . OMIM:240950 a owl:Class ; rdfs:label "hypogonadism-cataract syndrome" ; IAO:0000142 PMID:6418006 ; - oboInOwl:hasDbXref UMLS:C1855859 ; oboInOwl:hasExactSynonym "cataracts and testicular failure", - "hypogonadism-cataract syndrome" . + "hypogonadism-cataract syndrome" ; + skos:exactMatch UMLS:C1855859 . OMIM:241000 a owl:Class ; rdfs:label "hypogonadism with low-grade mental deficiency and microcephaly" ; IAO:0000142 PMID:13604657 ; - oboInOwl:hasDbXref UMLS:C1855858 ; - oboInOwl:hasExactSynonym "hypogonadism with low-grade mental deficiency and microcephaly" . + oboInOwl:hasExactSynonym "hypogonadism with low-grade mental deficiency and microcephaly" ; + skos:exactMatch UMLS:C1855858 . OMIM:241090 a owl:Class ; rdfs:label "hypergonadotropic hypogonadism and partial alopecia" ; IAO:0000142 PMID:12749067, PMID:19213036, PMID:4061495 ; - oboInOwl:hasDbXref UMLS:C2673480 ; oboInOwl:hasExactSynonym "hypergonadotropic hypogonadism and partial alopecia" ; + skos:exactMatch UMLS:C2673480 ; biolink:category biolink:Disease . OMIM:241100 a owl:Class ; @@ -87285,17 +89388,17 @@ OMIM:241100 a owl:Class ; IAO:0000142 PMID:13177549, PMID:13729828, PMID:17568424 ; - oboInOwl:hasDbXref UMLS:C0151721, - UMLS:C2673479 ; oboInOwl:hasExactSynonym "hypogonadism and testicular atrophy", - "hypogonadism, male" . + "hypogonadism, male" ; + skos:exactMatch UMLS:C0151721, + UMLS:C2673479 . OMIM:241120 a owl:Class ; rdfs:label "hypohidrosis with abnormal palmar dermal ridges" ; IAO:0000142 PMID:3228139 ; - oboInOwl:hasDbXref UMLS:C1855856 ; oboInOwl:hasExactSynonym "hypohidrosis with abnormal palmar dermal ridges", - "sweat gland hypoplasia" . + "sweat gland hypoplasia" ; + skos:exactMatch UMLS:C1855856 . OMIM:241150 a owl:Class ; rdfs:label "hypokalemic alkalosis, familial, with specific renal tubulopathy" ; @@ -87304,10 +89407,10 @@ OMIM:241150 a owl:Class ; PMID:4432875, PMID:6347111, PMID:7025624 ; - oboInOwl:hasDbXref UMLS:C0268444 ; oboInOwl:hasExactSynonym "gullner syndrome", "hypokalemia, familial", "hypokalemic alkalosis, familial, with specific renal tubulopathy" ; + skos:exactMatch UMLS:C0268444 ; biolink:category biolink:Disease . OMIM:241310 a owl:Class ; @@ -87315,8 +89418,8 @@ OMIM:241310 a owl:Class ; IAO:0000142 PMID:1951450, PMID:3144983, PMID:8135280 ; - oboInOwl:hasDbXref UMLS:C1855848 ; oboInOwl:hasExactSynonym "hypomandibular faciocranial dysostosis" ; + skos:exactMatch UMLS:C1855848 ; biolink:category biolink:Disease . OMIM:241400 a owl:Class ; @@ -87373,15 +89476,15 @@ OMIM:241500 a owl:Class ; PMID:8406453, PMID:8887081, PMID:9777343 ; - oboInOwl:hasDbXref UMLS:C0268412, - ORPHA:247623, - ORPHA:247651, - ORPHA:436 ; oboInOwl:hasExactSynonym "HPPI", "hops", "hypophosphatasia, infantile", "hypophosphatasia, perinatal lethal", "phosphoethanolaminuria" ; + skos:exactMatch UMLS:C0268412, + ORPHA:247623, + ORPHA:247651, + ORPHA:436 ; biolink:category biolink:Disease . OMIM:241510 a owl:Class ; @@ -87391,22 +89494,22 @@ OMIM:241510 a owl:Class ; PMID:11479741, PMID:13410963, PMID:1409720 ; - oboInOwl:hasDbXref UMLS:C0220743 ; oboInOwl:hasExactSynonym "HPPC", "hypophosphatasia, childhood" ; + skos:exactMatch UMLS:C0220743 ; biolink:category biolink:Disease . OMIM:241519 a owl:Class ; rdfs:label "hypophosphatemia, renal, with intracerebral calcifications" ; IAO:0000142 PMID:2309790 ; - oboInOwl:hasDbXref UMLS:C1855809 ; - oboInOwl:hasExactSynonym "hypophosphatemia, renal, with intracerebral calcifications" . + oboInOwl:hasExactSynonym "hypophosphatemia, renal, with intracerebral calcifications" ; + skos:exactMatch UMLS:C1855809 . OMIM:241540 a owl:Class ; rdfs:label "hypopituitarism, congenital, with central diabetes insipidus" ; IAO:0000142 PMID:8157716 ; - oboInOwl:hasDbXref UMLS:C1855800 ; - oboInOwl:hasExactSynonym "hypopituitarism, congenital, with central diabetes insipidus" . + oboInOwl:hasExactSynonym "hypopituitarism, congenital, with central diabetes insipidus" ; + skos:exactMatch UMLS:C1855800 . OMIM:241550 a owl:Class ; rdfs:label "hypoplastic left heart syndrome 1" ; @@ -87419,11 +89522,11 @@ OMIM:241550 a owl:Class ; PMID:28530678, PMID:4185446, PMID:5111754 ; - oboInOwl:hasDbXref UMLS:C4551854 ; oboInOwl:hasExactSynonym "HLHS1", "hlhs", "hypoplastic left heart syndrome 1" ; rdfs:subClassOf OMIMPS:241550 ; + skos:exactMatch UMLS:C4551854 ; biolink:category biolink:Disease . OMIM:241750 a owl:Class ; @@ -87432,8 +89535,8 @@ OMIM:241750 a owl:Class ; OMIM:241760 a owl:Class ; rdfs:label "hypospadias-mental retardation syndrome" ; - oboInOwl:hasDbXref UMLS:C0795989 ; - oboInOwl:hasExactSynonym "hypospadias-mental retardation syndrome" . + oboInOwl:hasExactSynonym "hypospadias-mental retardation syndrome" ; + skos:exactMatch UMLS:C0795989 . OMIM:241850 a owl:Class ; rdfs:label "hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate" ; @@ -87442,9 +89545,9 @@ OMIM:241850 a owl:Class ; PMID:2918525, PMID:8320710, PMID:9697705 ; - oboInOwl:hasDbXref UMLS:C1855794 ; oboInOwl:hasExactSynonym "bamforth-lazarus syndrome", "hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate" ; + skos:exactMatch UMLS:C1855794 ; biolink:category biolink:Disease . OMIM:241900 a owl:Class ; @@ -87454,8 +89557,8 @@ OMIM:241900 a owl:Class ; OMIM:242050 a owl:Class ; rdfs:label "hypouricemia, hypercalcinuria, and decreased bone density" ; IAO:0000142 PMID:4621080 ; - oboInOwl:hasDbXref UMLS:C1855793 ; - oboInOwl:hasExactSynonym "hypouricemia, hypercalcinuria, and decreased bone density" . + oboInOwl:hasExactSynonym "hypouricemia, hypercalcinuria, and decreased bone density" ; + skos:exactMatch UMLS:C1855793 . OMIM:242170 a owl:Class ; IAO:0100001 OMIM:601675 ; @@ -87463,32 +89566,32 @@ OMIM:242170 a owl:Class ; OMIM:242400 a owl:Class ; rdfs:label "ichthyosis congenita with biliary atresia" ; - oboInOwl:hasDbXref UMLS:C0400974 ; - oboInOwl:hasExactSynonym "ichthyosis congenita with biliary atresia" . + oboInOwl:hasExactSynonym "ichthyosis congenita with biliary atresia" ; + skos:exactMatch UMLS:C0400974 . OMIM:242510 a owl:Class ; rdfs:label "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" ; IAO:0000142 PMID:3829441 ; - oboInOwl:hasDbXref UMLS:C1855788 ; - oboInOwl:hasExactSynonym "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" . + oboInOwl:hasExactSynonym "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" ; + skos:exactMatch UMLS:C1855788 . OMIM:242520 a owl:Class ; rdfs:label "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" ; IAO:0000142 PMID:444432 ; - oboInOwl:hasDbXref UMLS:C1275088 ; - oboInOwl:hasExactSynonym "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" . + oboInOwl:hasExactSynonym "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" ; + skos:exactMatch UMLS:C1275088 . OMIM:242530 a owl:Class ; rdfs:label "ichthyosis, mental retardation, dwarfism, and renal impairment" ; IAO:0000142 PMID:1149323 ; - oboInOwl:hasDbXref UMLS:C1855787 ; - oboInOwl:hasExactSynonym "ichthyosis, mental retardation, dwarfism, and renal impairment" . + oboInOwl:hasExactSynonym "ichthyosis, mental retardation, dwarfism, and renal impairment" ; + skos:exactMatch UMLS:C1855787 . OMIM:242550 a owl:Class ; rdfs:label "ichthyosis, split hairs, and amino aciduria" ; IAO:0000142 PMID:843456 ; - oboInOwl:hasDbXref UMLS:C1855786 ; - oboInOwl:hasExactSynonym "ichthyosis, split hairs, and amino aciduria" . + oboInOwl:hasExactSynonym "ichthyosis, split hairs, and amino aciduria" ; + skos:exactMatch UMLS:C1855786 . OMIM:242650 a owl:Class ; IAO:0100001 OMIM:244400 ; @@ -87497,17 +89600,17 @@ OMIM:242650 a owl:Class ; OMIM:242670 a owl:Class ; rdfs:label "ciliary dyskinesia with defective radial spokes" ; IAO:0000142 PMID:152870 ; - oboInOwl:hasDbXref UMLS:C0340035 ; oboInOwl:hasExactSynonym "ciliary dyskinesia with defective radial spokes", "immotile cilia syndrome due to defective radial spokes" ; + skos:exactMatch UMLS:C0340035 ; biolink:category biolink:Disease . OMIM:242680 a owl:Class ; rdfs:label "ciliary dyskinesia with excessively long cilia" ; IAO:0000142 PMID:3979484 ; - oboInOwl:hasDbXref UMLS:C0340036 ; oboInOwl:hasExactSynonym "ciliary dyskinesia with excessively long cilia", - "immotile cilia syndrome due to excessively long cilia" . + "immotile cilia syndrome due to excessively long cilia" ; + skos:exactMatch UMLS:C0340036 . OMIM:242700 a owl:Class ; rdfs:label "t-cell immunodeficiency with thymic aplasia" ; @@ -87521,15 +89624,15 @@ OMIM:242700 a owl:Class ; PMID:4272636, PMID:4810725, PMID:5338315 ; - oboInOwl:hasDbXref UMLS:C0152094, - UMLS:C1744558, - UMLS:C2752083, - ORPHA:83471 ; oboInOwl:hasExactSynonym "TIDTA", "immune defect due to absence of thymus", "nezelof syndrome", "t-cell immunodeficiency with thymic aplasia", "t-lymphocyte deficiency" ; + skos:exactMatch UMLS:C0152094, + UMLS:C1744558, + UMLS:C2752083, + ORPHA:83471 ; biolink:category biolink:Disease . OMIM:242800 a owl:Class ; @@ -87538,28 +89641,28 @@ OMIM:242800 a owl:Class ; OMIM:242850 a owl:Class ; rdfs:label "immune deficiency disease" ; IAO:0000142 PMID:4123291 ; - oboInOwl:hasDbXref UMLS:C1855771 ; - oboInOwl:hasExactSynonym "immune deficiency disease" . + oboInOwl:hasExactSynonym "immune deficiency disease" ; + skos:exactMatch UMLS:C1855771 . OMIM:242870 a owl:Class ; rdfs:label "immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes" ; IAO:0000142 PMID:650344, PMID:77067, PMID:92382 ; - oboInOwl:hasDbXref UMLS:C1855762 ; - oboInOwl:hasExactSynonym "immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes" . + oboInOwl:hasExactSynonym "immunodeficiency, partial combined, with absence of hla determinants and beta-2-microglobulin from lymphocytes" ; + skos:exactMatch UMLS:C1855762 . OMIM:242880 a owl:Class ; rdfs:label "immunoerythromyeloid hypoplasia" ; IAO:0000142 PMID:1137261 ; - oboInOwl:hasDbXref UMLS:C0272167 ; - oboInOwl:hasExactSynonym "immunoerythromyeloid hypoplasia" . + oboInOwl:hasExactSynonym "immunoerythromyeloid hypoplasia" ; + skos:exactMatch UMLS:C0272167 . OMIM:242890 a owl:Class ; rdfs:label "immunoglobulin d level 1n plasma, low" ; IAO:0000142 PMID:678327 ; - oboInOwl:hasDbXref UMLS:C1855761 ; - oboInOwl:hasExactSynonym "immunoglobulin d level 1n plasma, low" . + oboInOwl:hasExactSynonym "immunoglobulin d level 1n plasma, low" ; + skos:exactMatch UMLS:C1855761 . OMIM:243000 a owl:Class ; rdfs:label "indifference to pain, congenital, autosomal recessive" ; @@ -87585,27 +89688,27 @@ OMIM:243000 a owl:Class ; PMID:4176404, PMID:4190086, PMID:6189547 ; - oboInOwl:hasDbXref UMLS:C1855739, - UMLS:C4012054 ; oboInOwl:hasExactSynonym "CIP", "asymbolia for pain", "congenital analgesia, autosomal recessive", "indifference to pain, congenital, autosomal recessive", "insensitivity to pain, channelopathy-associated", "neuropathy, hereditary sensory and autonomic, iia 2d" ; + skos:exactMatch UMLS:C1855739, + UMLS:C4012054 ; biolink:category biolink:Disease . OMIM:243050 a owl:Class ; rdfs:label "indolylacroyl glycinuria with mental retardation" ; IAO:0000142 PMID:14089554 ; - oboInOwl:hasDbXref UMLS:C1855738 ; - oboInOwl:hasExactSynonym "indolylacroyl glycinuria with mental retardation" . + oboInOwl:hasExactSynonym "indolylacroyl glycinuria with mental retardation" ; + skos:exactMatch UMLS:C1855738 . OMIM:243080 a owl:Class ; rdfs:label "inosine phosphorylase deficiency, immune defect due to" ; IAO:0000142 PMID:416187 ; - oboInOwl:hasDbXref UMLS:C1855737 ; - oboInOwl:hasExactSynonym "inosine phosphorylase deficiency, immune defect due to" . + oboInOwl:hasExactSynonym "inosine phosphorylase deficiency, immune defect due to" ; + skos:exactMatch UMLS:C1855737 . OMIM:243095 a owl:Class ; IAO:0100001 OMIM:270450 ; @@ -87614,15 +89717,15 @@ OMIM:243095 a owl:Class ; OMIM:243100 a owl:Class ; rdfs:label "internal carotid arteries, hypoplasia of" ; IAO:0000142 PMID:5538599 ; - oboInOwl:hasDbXref UMLS:C1855736 ; - oboInOwl:hasExactSynonym "internal carotid arteries, hypoplasia of" . + oboInOwl:hasExactSynonym "internal carotid arteries, hypoplasia of" ; + skos:exactMatch UMLS:C1855736 . OMIM:243110 a owl:Class ; rdfs:label "immunodeficiency with defective t-cell response to interleukin 1" ; IAO:0000142 PMID:6611555 ; - oboInOwl:hasDbXref UMLS:C1855735 ; oboInOwl:hasExactSynonym "immunodeficiency with defective t-cell response to interleukin 1", - "interleukin 1, defective t-cell response to" . + "interleukin 1, defective t-cell response to" ; + skos:exactMatch UMLS:C1855735 . OMIM:243180 a owl:Class ; rdfs:label "visceral neuropathy, familial, 1, autosomal recessive" ; @@ -87635,7 +89738,6 @@ OMIM:243180 a owl:Class ; PMID:6649903, PMID:7438508, PMID:8882403 ; - oboInOwl:hasDbXref UMLS:C1855733 ; oboInOwl:hasExactSynonym "VSCN1", "argyrophil myenteric plexus, deficiency of", "intestinal pseudoobstruction due to neuronal disease", @@ -87644,13 +89746,14 @@ OMIM:243180 a owl:Class ; "pseudoobstruction, chronic idiopathic intestinal, neuronal iia", "visceral neuropathy, familial, 1, autosomal recessive" ; rdfs:subClassOf OMIMPS:243180 ; + skos:exactMatch UMLS:C1855733 ; biolink:category biolink:Disease . OMIM:243185 a owl:Class ; rdfs:label "intestinal pseudoobstruction with patent ductus arteriosus and natal teeth" ; IAO:0000142 PMID:1269170 ; - oboInOwl:hasDbXref UMLS:C1855732 ; - oboInOwl:hasExactSynonym "intestinal pseudoobstruction with patent ductus arteriosus and natal teeth" . + oboInOwl:hasExactSynonym "intestinal pseudoobstruction with patent ductus arteriosus and natal teeth" ; + skos:exactMatch UMLS:C1855732 . OMIM:243200 a owl:Class ; rdfs:label "intracranial hypertension, idiopathic" ; @@ -87660,9 +89763,9 @@ OMIM:243200 a owl:Class ; PMID:4808492, PMID:5775633, PMID:932759 ; - oboInOwl:hasDbXref UMLS:C0033845 ; oboInOwl:hasExactSynonym "intracranial hypertension, idiopathic", - "pseudotumor cerebri" . + "pseudotumor cerebri" ; + skos:exactMatch UMLS:C0033845 . OMIM:243300 a owl:Class ; rdfs:label "cholestasis, benign recurrent intrahepatic, 1" ; @@ -87681,11 +89784,11 @@ OMIM:243300 a owl:Class ; PMID:9272159, PMID:9500542, PMID:9918928 ; - oboInOwl:hasDbXref UMLS:C4551899 ; oboInOwl:hasExactSynonym "BRIC1", "cholestasis, benign recurrent intrahepatic, 1", "summerskill syndrome" ; rdfs:subClassOf OMIMPS:243300 ; + skos:exactMatch UMLS:C4551899 ; biolink:category biolink:Disease . OMIM:243305 a owl:Class ; @@ -87706,22 +89809,23 @@ OMIM:243305 a owl:Class ; PMID:9792867 ; RO:0002525 CHR:9606chr9q31.1 ; RO:0003303 OMIM:602088 ; - oboInOwl:hasDbXref UMLS:C1425144, - UMLS:C1865872 ; oboInOwl:hasExactSynonym "INVS", "inversin", "inversion of embryonic turning", "nephrocystin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27130 ; - skos:exactMatch HGNC_symbol:INVS ; + skos:exactMatch UMLS:C1425144, + UMLS:C1865872, + HGNC:17870, + HGNC_symbol:INVS ; biolink:category biolink:Gene . OMIM:243320 a owl:Class ; rdfs:label "intrinsic factor and r binder, combined congenital deficiency of" ; IAO:0000142 PMID:3166387 ; - oboInOwl:hasDbXref UMLS:C1855721 ; - oboInOwl:hasExactSynonym "intrinsic factor and r binder, combined congenital deficiency of" . + oboInOwl:hasExactSynonym "intrinsic factor and r binder, combined congenital deficiency of" ; + skos:exactMatch UMLS:C1855721 . OMIM:243340 a owl:Class ; IAO:0100001 OMIM:242860 ; @@ -87736,17 +89840,17 @@ OMIM:243440 a owl:Class ; PMID:6142222, PMID:6237184, PMID:6587131 ; - oboInOwl:hasDbXref UMLS:C0432364 ; oboInOwl:hasExactSynonym "isotretinoin embryopathy-like syndrome", - "microtia-aortic arch syndrome" . + "microtia-aortic arch syndrome" ; + skos:exactMatch UMLS:C0432364 . OMIM:243450 a owl:Class ; rdfs:label "isovaleric acid, inability to smell" ; IAO:0000142 PMID:4696259, PMID:4861233, PMID:8521470 ; - oboInOwl:hasDbXref UMLS:C1855714 ; - oboInOwl:hasExactSynonym "isovaleric acid, inability to smell" . + oboInOwl:hasExactSynonym "isovaleric acid, inability to smell" ; + skos:exactMatch UMLS:C1855714 . OMIM:243600 a owl:Class ; rdfs:label "jejunal atresia" ; @@ -87760,10 +89864,10 @@ OMIM:243600 a owl:Class ; PMID:8906679, PMID:957064, PMID:9714011 ; - oboInOwl:hasDbXref UMLS:C0266175 ; oboInOwl:hasExactSynonym "apple peel small bowel syndrome", "apple peel syndrome", "jejunal atresia" ; + skos:exactMatch UMLS:C0266175 ; biolink:category biolink:Disease . OMIM:243910 a owl:Class ; @@ -87777,13 +89881,13 @@ OMIM:243910 a owl:Class ; PMID:7538263, PMID:8362922, PMID:8456821 ; - oboInOwl:hasDbXref UMLS:C1855675, - ORPHA:2318 ; oboInOwl:hasExactSynonym "arima syndrome", "cerebrooculohepatorenal syndrome", "coloboma, chorioretinal, with cerebellar vermis aplasia", "dekaban-arima syndrome", "joubert syndrome with bilateral chorioretinal coloboma" ; + skos:exactMatch UMLS:C1855675, + ORPHA:2318 ; biolink:category biolink:Disease . OMIM:244100 a owl:Class ; @@ -87792,8 +89896,8 @@ OMIM:244100 a owl:Class ; PMID:3528919, PMID:6777025, PMID:7282768 ; - oboInOwl:hasDbXref UMLS:C1280764 ; - oboInOwl:hasExactSynonym "jumping frenchmen of maine" . + oboInOwl:hasExactSynonym "jumping frenchmen of maine" ; + skos:exactMatch UMLS:C1280764 . OMIM:244300 a owl:Class ; rdfs:label "kapur-toriello syndrome" ; @@ -87802,9 +89906,9 @@ OMIM:244300 a owl:Class ; PMID:18831061, PMID:20358618, PMID:26049588 ; - oboInOwl:hasDbXref UMLS:C0796005 ; oboInOwl:hasExactSynonym "kapur-toriello syndrome", "long columella with cleft lip/palate and eye, heart, and intestinal anomalies" ; + skos:exactMatch UMLS:C0796005 ; biolink:category biolink:Disease . OMIM:244500 a owl:Class ; @@ -87814,27 +89918,27 @@ OMIM:244500 a owl:Class ; OMIM:244510 a owl:Class ; rdfs:label "keratoconus and congenital hip dysplasia" ; IAO:0000142 PMID:2039056 ; - oboInOwl:hasDbXref UMLS:C1855647 ; - oboInOwl:hasExactSynonym "keratoconus and congenital hip dysplasia" . + oboInOwl:hasExactSynonym "keratoconus and congenital hip dysplasia" ; + skos:exactMatch UMLS:C1855647 . OMIM:244600 a owl:Class ; rdfs:label "keratoconus posticus circumscriptus" ; IAO:0000142 PMID:13396169, PMID:13711210, PMID:7143385 ; - oboInOwl:hasDbXref UMLS:C1855645, - UMLS:C1855646 ; oboInOwl:hasExactSynonym "KPC", "keratoconus posticus circumscriptus", - "kpc with associated malformations" . + "kpc with associated malformations" ; + skos:exactMatch UMLS:C1855645, + UMLS:C1855646 . OMIM:244850 a owl:Class ; rdfs:label "palmoplantar keratoderma, norrbotten recessive iia" ; IAO:0000142 PMID:2260881, PMID:2935332 ; - oboInOwl:hasDbXref UMLS:C1855644 ; oboInOwl:hasExactSynonym "PPKNR", - "palmoplantar keratoderma, norrbotten recessive iia" . + "palmoplantar keratoderma, norrbotten recessive iia" ; + skos:exactMatch UMLS:C1855644 . OMIM:245000 a owl:Class ; rdfs:label "papillon-lefevre syndrome" ; @@ -87857,11 +89961,11 @@ OMIM:245000 a owl:Class ; PMID:7623262, PMID:9272739, PMID:9439671 ; - oboInOwl:hasDbXref UMLS:C0030360 ; oboInOwl:hasExactSynonym "PALS", "keratosis palmoplantaris with periodontopathia", "papillon-lefevre syndrome", "pls" ; + skos:exactMatch UMLS:C0030360 ; biolink:category biolink:Disease . OMIM:245010 a owl:Class ; @@ -87871,51 +89975,51 @@ OMIM:245010 a owl:Class ; PMID:162525, PMID:2943312, PMID:5225739 ; - oboInOwl:hasDbXref UMLS:C1855627 ; oboInOwl:hasExactSynonym "HMS", "cochin jewish disorder", "haim-munk syndrome", "keratosis palmoplantaris with periodontopathia and onychogryposis" ; + skos:exactMatch UMLS:C1855627 ; biolink:category biolink:Disease . OMIM:245100 a owl:Class ; rdfs:label "richards-rundle syndrome" ; IAO:0000142 PMID:14795246, PMID:4671995 ; - oboInOwl:hasDbXref UMLS:C0796136 ; oboInOwl:hasExactSynonym "RRNS", "ataxia-deafness-mental retardation syndrome", "richards-rundle syndrome" ; + skos:exactMatch UMLS:C0796136 ; biolink:category biolink:Disease . OMIM:245130 a owl:Class ; IAO:0000142 PMID:1112064 ; IAO:0100001 OMIM:204750 ; - oboInOwl:hasDbXref UMLS:C1855626 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1855626 . OMIM:245160 a owl:Class ; rdfs:label "kniest-like dysplasia with pursed lips and ectopia lentis" ; IAO:0000142 PMID:11038441, PMID:3761078, PMID:9788555 ; - oboInOwl:hasDbXref UMLS:C1855606 ; oboInOwl:hasExactSynonym "burton syndrome", - "kniest-like dysplasia with pursed lips and ectopia lentis" . + "kniest-like dysplasia with pursed lips and ectopia lentis" ; + skos:exactMatch UMLS:C1855606 . OMIM:245180 a owl:Class ; rdfs:label "kifafa seizure disorder" ; IAO:0000142 PMID:1628578, PMID:499114, PMID:7573052 ; - oboInOwl:hasDbXref UMLS:C0796010 ; - oboInOwl:hasExactSynonym "kifafa seizure disorder" . + oboInOwl:hasExactSynonym "kifafa seizure disorder" ; + skos:exactMatch UMLS:C0796010 . OMIM:245190 a owl:Class ; rdfs:label "kniest-like dysplasia, lethal" ; IAO:0000142 PMID:6358440 ; - oboInOwl:hasDbXref UMLS:C1855605 ; - oboInOwl:hasExactSynonym "kniest-like dysplasia, lethal" . + oboInOwl:hasExactSynonym "kniest-like dysplasia, lethal" ; + skos:exactMatch UMLS:C1855605 . OMIM:245210 a owl:Class ; oboInOwl:consider OMIM:188400, @@ -87928,9 +90032,9 @@ OMIM:245340 a owl:Class ; PMID:3395513, PMID:3395514, PMID:3775384 ; - oboInOwl:hasDbXref UMLS:C1855577 ; oboInOwl:hasExactSynonym "erythrocyte lactate transporter defect", "lactate transporter defect, myopathy due to" ; + skos:exactMatch UMLS:C1855577 ; biolink:category biolink:Disease . OMIM:245500 a owl:Class ; @@ -87940,16 +90044,16 @@ OMIM:245550 a owl:Class ; rdfs:label "lambert syndrome" ; IAO:0000142 PMID:2352262, PMID:7108916 ; - oboInOwl:hasDbXref UMLS:C1855551 ; oboInOwl:hasExactSynonym "branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia", - "lambert syndrome" . + "lambert syndrome" ; + skos:exactMatch UMLS:C1855551 . OMIM:245552 a owl:Class ; rdfs:label "lambotte syndrome" ; IAO:0000142 PMID:2240028 ; - oboInOwl:hasDbXref UMLS:C1855550 ; oboInOwl:hasExactSynonym "lambotte syndrome", "microcephaly, holoprosencephaly, and intrauterine growth retardation" ; + skos:exactMatch UMLS:C1855550 ; biolink:category biolink:Disease . OMIM:245590 a owl:Class ; @@ -87964,14 +90068,14 @@ OMIM:245590 a owl:Class ; PMID:5916640, PMID:8300382, PMID:8977385 ; - oboInOwl:hasDbXref UMLS:C1855548, - UMLS:C5435698, - ORPHA:220465 ; oboInOwl:hasExactSynonym "GHISID1", "growth hormone insensitivity due to postreceptor defect", "growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive", "laron syndrome due to postreceptor defect" ; rdfs:subClassOf OMIMPS:245590 ; + skos:exactMatch UMLS:C1855548, + UMLS:C5435698, + ORPHA:220465 ; biolink:category biolink:Disease . OMIM:245650 a owl:Class ; @@ -87980,8 +90084,8 @@ OMIM:245650 a owl:Class ; PMID:3172146, PMID:7137228, PMID:8652025 ; - oboInOwl:hasDbXref UMLS:C1855535 ; - oboInOwl:hasExactSynonym "larsen-like syndrome, lethal iia" . + oboInOwl:hasExactSynonym "larsen-like syndrome, lethal iia" ; + skos:exactMatch UMLS:C1855535 . OMIM:245800 a owl:Class ; rdfs:label "laurence-moon syndrome" ; @@ -87992,16 +90096,16 @@ OMIM:245800 a owl:Class ; PMID:3359670, PMID:5835363, PMID:8053762 ; - oboInOwl:hasDbXref UMLS:C0023138 ; oboInOwl:hasExactSynonym "LNMS", "laurence-moon syndrome" ; + skos:exactMatch UMLS:C0023138 ; biolink:category biolink:Disease . OMIM:246000 a owl:Class ; rdfs:label "leg, absence deformity of, with congenital cataract" ; IAO:0000142 PMID:5694533 ; - oboInOwl:hasDbXref UMLS:C1855523 ; oboInOwl:hasExactSynonym "leg, absence deformity of, with congenital cataract" ; + skos:exactMatch UMLS:C1855523 ; biolink:category biolink:Disease . OMIM:246200 a owl:Class ; @@ -88032,11 +90136,11 @@ OMIM:246200 a owl:Class ; PMID:7815442, PMID:8105179, PMID:8326490 ; - oboInOwl:hasDbXref UMLS:C0265344, - UMLS:C0271689 ; oboInOwl:hasExactSynonym "donohue syndrome", "insulin receptor, defect 1n", "leprechaunism" ; + skos:exactMatch UMLS:C0265344, + UMLS:C0271689 ; biolink:category biolink:Disease . OMIM:246300 a owl:Class ; @@ -88047,9 +90151,9 @@ OMIM:246300 a owl:Class ; PMID:18177245, PMID:19111445, PMID:9435236 ; - oboInOwl:hasDbXref UMLS:C1968668 ; oboInOwl:hasExactSynonym "LPRS3", "leprosy, susceptibility to, 3" ; + skos:exactMatch UMLS:C1968668 ; biolink:category biolink:Disease . OMIM:246400 a owl:Class ; @@ -88062,17 +90166,17 @@ OMIM:246400 a owl:Class ; PMID:5444399, PMID:5663744, PMID:7608790 ; - oboInOwl:hasDbXref UMLS:C0023381 ; oboInOwl:hasExactSynonym "histiocytosis x, acute disseminated", "l-s disease", "letterer-siwe disease" ; + skos:exactMatch UMLS:C0023381 ; biolink:category biolink:Disease . OMIM:246470 a owl:Class ; rdfs:label "leukemia, acute myelocytic, with polyposis coli and colon cancer" ; IAO:0000142 PMID:6946722 ; - oboInOwl:hasDbXref UMLS:C1855505 ; - oboInOwl:hasExactSynonym "leukemia, acute myelocytic, with polyposis coli and colon cancer" . + oboInOwl:hasExactSynonym "leukemia, acute myelocytic, with polyposis coli and colon cancer" ; + skos:exactMatch UMLS:C1855505 . OMIM:246490 a owl:Class ; IAO:0100001 OMIM:266265 ; @@ -88081,21 +90185,21 @@ OMIM:246490 a owl:Class ; OMIM:246500 a owl:Class ; rdfs:label "leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis" ; IAO:0000142 PMID:13867923 ; - oboInOwl:hasDbXref UMLS:C1855504 ; - oboInOwl:hasExactSynonym "leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis" . + oboInOwl:hasExactSynonym "leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis" ; + skos:exactMatch UMLS:C1855504 . OMIM:246550 a owl:Class ; rdfs:label "lichtenstein syndrome" ; - oboInOwl:hasDbXref UMLS:C1855502 ; - oboInOwl:hasExactSynonym "lichtenstein syndrome" . + oboInOwl:hasExactSynonym "lichtenstein syndrome" ; + skos:exactMatch UMLS:C1855502 . OMIM:246555 a owl:Class ; rdfs:label "limb defects, distal transverse, with mental retardation and spasticity" ; IAO:0000142 PMID:3812566, PMID:6056808, PMID:8368260 ; - oboInOwl:hasDbXref UMLS:C1855501 ; - oboInOwl:hasExactSynonym "limb defects, distal transverse, with mental retardation and spasticity" . + oboInOwl:hasExactSynonym "limb defects, distal transverse, with mental retardation and spasticity" ; + skos:exactMatch UMLS:C1855501 . OMIM:246570 a owl:Class ; rdfs:label "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome" ; @@ -88104,9 +90208,9 @@ OMIM:246570 a owl:Class ; PMID:20964118, PMID:7337959, PMID:7937589 ; - oboInOwl:hasDbXref UMLS:C1855499 ; oboInOwl:hasExactSynonym "fatco syndrome", - "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome" . + "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome" ; + skos:exactMatch UMLS:C1855499 . OMIM:246600 a owl:Class ; rdfs:label "PNLIP" ; @@ -88117,14 +90221,15 @@ OMIM:246600 a owl:Class ; PMID:8406023 ; RO:0002525 CHR:9606chr10q25.3 ; RO:0003303 OMIM:614338 ; - oboInOwl:hasDbXref UMLS:C1418708 ; oboInOwl:hasExactSynonym "PNLIP", "lipase, pancreatic", "pancreatic lipase", "pl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5406 ; - skos:exactMatch HGNC_symbol:PNLIP ; + skos:exactMatch UMLS:C1418708, + HGNC:9155, + HGNC_symbol:PNLIP ; biolink:category biolink:Gene . OMIM:246800 a owl:Class ; @@ -88134,8 +90239,8 @@ OMIM:246800 a owl:Class ; OMIM:247150 a owl:Class ; rdfs:label "lip prints" ; IAO:0000142 PMID:1237462 ; - oboInOwl:hasDbXref UMLS:C1855497 ; - oboInOwl:hasExactSynonym "lip prints" . + oboInOwl:hasExactSynonym "lip prints" ; + skos:exactMatch UMLS:C1855497 . OMIM:247200 a owl:Class ; rdfs:label "miller-dieker lissencephaly syndrome" ; @@ -88180,14 +90285,14 @@ OMIM:247200 a owl:Class ; PMID:8825053, PMID:9832039 ; RO:0002525 CHR:9606chr17p13.3 ; - oboInOwl:hasDbXref UMLS:C0265219, - UMLS:C1855481 ; oboInOwl:hasExactSynonym "MDLS", "chromosome 17p13.3 deletion syndrome", "mds", "miller-dieker lissencephaly syndrome", "miller-dieker syndrome chromosome region" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C0265219, + UMLS:C1855481 ; biolink:category biolink:Disease . OMIM:247400 a owl:Class ; @@ -88197,9 +90302,9 @@ OMIM:247400 a owl:Class ; OMIM:247410 a owl:Class ; rdfs:label "lymphedema-hypoparathyroidism syndrome" ; IAO:0000142 PMID:6638075 ; - oboInOwl:hasDbXref UMLS:C1855477 ; oboInOwl:hasExactSynonym "hypoparathyroidism-lymphedema syndrome", - "lymphedema-hypoparathyroidism syndrome" . + "lymphedema-hypoparathyroidism syndrome" ; + skos:exactMatch UMLS:C1855477 . OMIM:247420 a owl:Class ; rdfs:label "lutheran null" ; @@ -88208,16 +90313,16 @@ OMIM:247420 a owl:Class ; PMID:17319831, PMID:18487511, PMID:4836779 ; - oboInOwl:hasDbXref UMLS:C1292230 ; oboInOwl:hasExactSynonym "lutheran null", "recessive 50u (a-b-) phenotype" ; + skos:exactMatch UMLS:C1292230 ; biolink:category biolink:Disease . OMIM:247430 a owl:Class ; rdfs:label "lymphoblastic transformation, inhibition of" ; IAO:0000142 PMID:4947556 ; - oboInOwl:hasDbXref UMLS:C1855476 ; - oboInOwl:hasExactSynonym "lymphoblastic transformation, inhibition of" . + oboInOwl:hasExactSynonym "lymphoblastic transformation, inhibition of" ; + skos:exactMatch UMLS:C1855476 . OMIM:247440 a owl:Class ; oboInOwl:consider OMIM:153100, @@ -88227,33 +90332,33 @@ OMIM:247440 a owl:Class ; OMIM:247450 a owl:Class ; rdfs:label "lymphoblastic transformation, intrinsic defect 1n" ; IAO:0000142 PMID:4171049 ; - oboInOwl:hasDbXref UMLS:C1855474 ; - oboInOwl:hasExactSynonym "lymphoblastic transformation, intrinsic defect 1n" . + oboInOwl:hasExactSynonym "lymphoblastic transformation, intrinsic defect 1n" ; + skos:exactMatch UMLS:C1855474 . OMIM:247610 a owl:Class ; rdfs:label "lymphoid interstitial pneumonia" ; IAO:0000142 PMID:7360539 ; - oboInOwl:hasDbXref UMLS:C0264511 ; oboInOwl:hasExactSynonym "LIP", - "lymphoid interstitial pneumonia" . + "lymphoid interstitial pneumonia" ; + skos:exactMatch UMLS:C0264511 . OMIM:247630 a owl:Class ; rdfs:label "lymphoid system deterioration, progressive" ; IAO:0000142 PMID:5435713 ; - oboInOwl:hasDbXref UMLS:C1855473 ; - oboInOwl:hasExactSynonym "lymphoid system deterioration, progressive" . + oboInOwl:hasExactSynonym "lymphoid system deterioration, progressive" ; + skos:exactMatch UMLS:C1855473 . OMIM:247650 a owl:Class ; rdfs:label "lymphokine deficiency" ; IAO:0000142 PMID:4336639 ; - oboInOwl:hasDbXref UMLS:C1855471 ; - oboInOwl:hasExactSynonym "lymphokine deficiency" . + oboInOwl:hasExactSynonym "lymphokine deficiency" ; + skos:exactMatch UMLS:C1855471 . OMIM:247800 a owl:Class ; rdfs:label "lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis" ; IAO:0000142 PMID:4162169 ; - oboInOwl:hasDbXref UMLS:C1855470 ; oboInOwl:hasExactSynonym "lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis" ; + skos:exactMatch UMLS:C1855470 ; biolink:category biolink:Disease . OMIM:247900 a owl:Class ; @@ -88263,43 +90368,44 @@ OMIM:247900 a owl:Class ; OMIM:247950 a owl:Class ; rdfs:label "lysine malabsorption syndrome" ; IAO:0000142 PMID:1246485 ; - oboInOwl:hasDbXref UMLS:C0796023 ; - oboInOwl:hasExactSynonym "lysine malabsorption syndrome" . + oboInOwl:hasExactSynonym "lysine malabsorption syndrome" ; + skos:exactMatch UMLS:C0796023 . OMIM:247980 a owl:Class ; rdfs:label "LIPB" ; IAO:0000142 PMID:7446527 ; - oboInOwl:hasDbXref UMLS:C1416866 ; oboInOwl:hasExactSynonym "LIPB", "lipase b, lysosomal acid", "lysosomal acid lipase-b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3989 ; - skos:exactMatch HGNC_symbol:LIPB ; + skos:exactMatch UMLS:C1416866, + HGNC:6618, + HGNC_symbol:LIPB ; biolink:category biolink:Gene . OMIM:247990 a owl:Class ; rdfs:label "macdermot-winter syndrome" ; IAO:0000142 PMID:2705483 ; - oboInOwl:hasDbXref UMLS:C0796024 ; - oboInOwl:hasExactSynonym "macdermot-winter syndrome" . + oboInOwl:hasExactSynonym "macdermot-winter syndrome" ; + skos:exactMatch UMLS:C0796024 . OMIM:248010 a owl:Class ; rdfs:label "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance" ; IAO:0000142 PMID:3941923 ; - oboInOwl:hasDbXref UMLS:C2931597 ; - oboInOwl:hasExactSynonym "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance" . + oboInOwl:hasExactSynonym "macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance" ; + skos:exactMatch UMLS:C2931597 . OMIM:248100 a owl:Class ; rdfs:label "macrosomia adiposa congenita" ; - oboInOwl:hasDbXref UMLS:C1855468 ; - oboInOwl:hasExactSynonym "macrosomia adiposa congenita" . + oboInOwl:hasExactSynonym "macrosomia adiposa congenita" ; + skos:exactMatch UMLS:C1855468 . OMIM:248110 a owl:Class ; rdfs:label "macrosomia with microphthalmia, lethal" ; IAO:0000142 PMID:2791331 ; - oboInOwl:hasDbXref UMLS:C1855467 ; - oboInOwl:hasExactSynonym "macrosomia with microphthalmia, lethal" . + oboInOwl:hasExactSynonym "macrosomia with microphthalmia, lethal" ; + skos:exactMatch UMLS:C1855467 . OMIM:248200 a owl:Class ; rdfs:label "stargardt disease 1" ; @@ -88339,10 +90445,6 @@ OMIM:248200 a owl:Class ; PMID:9054934, PMID:9499775, PMID:9781034 ; - oboInOwl:hasDbXref UMLS:C0271093, - UMLS:C1855465, - UMLS:C4282180, - ORPHA:827 ; oboInOwl:hasExactSynonym "STGD1", "fundus flavimaculatus", "macular degeneration, juvenile", @@ -88350,25 +90452,29 @@ OMIM:248200 a owl:Class ; "retinal dystrophy, early-onset severe", "stargardt disease 1", "stgd" ; + skos:exactMatch UMLS:C0271093, + UMLS:C1855465, + UMLS:C4282180, + ORPHA:827 ; biolink:category biolink:Disease . OMIM:248260 a owl:Class ; rdfs:label "magnesium, elevated red cell" ; IAO:0000142 PMID:6614008, PMID:6891178 ; - oboInOwl:hasDbXref UMLS:C1855464 ; - oboInOwl:hasExactSynonym "magnesium, elevated red cell" . + oboInOwl:hasExactSynonym "magnesium, elevated red cell" ; + skos:exactMatch UMLS:C1855464 . OMIM:248350 a owl:Class ; rdfs:label "malocclusion and short stature" ; - oboInOwl:hasDbXref UMLS:C1855453 ; - oboInOwl:hasExactSynonym "malocclusion and short stature" . + oboInOwl:hasExactSynonym "malocclusion and short stature" ; + skos:exactMatch UMLS:C1855453 . OMIM:248400 a owl:Class ; rdfs:label "mandibulofacial dysostosis with mental retardation" ; IAO:0000142 PMID:13789362 ; - oboInOwl:hasDbXref UMLS:C4692584 ; - oboInOwl:hasExactSynonym "mandibulofacial dysostosis with mental retardation" . + oboInOwl:hasExactSynonym "mandibulofacial dysostosis with mental retardation" ; + skos:exactMatch UMLS:C4692584 . OMIM:248450 a owl:Class ; rdfs:label "manitoba oculotrichoanal syndrome" ; @@ -88379,10 +90485,10 @@ OMIM:248450 a owl:Class ; PMID:19291776, PMID:21507892, PMID:820824 ; - oboInOwl:hasDbXref UMLS:C1855425 ; oboInOwl:hasExactSynonym "MOTA", "manitoba oculotrichoanal syndrome", "marles syndrome" ; + skos:exactMatch UMLS:C1855425 ; biolink:category biolink:Disease . OMIM:248610 a owl:Class ; @@ -88412,14 +90518,15 @@ OMIM:248610 a owl:Class ; PMID:9621512 ; RO:0002525 CHR:9606chr1p21.2 ; RO:0003303 OMIM:248600 ; - oboInOwl:hasDbXref UMLS:C1413925 ; oboInOwl:hasExactSynonym "DBT", "branched-chain acyltransferase, e2 component", "branched-chain keto acid dehydrogenase complex, e2 component", "dihydrolipoamide branched-chain transacylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1629 ; - skos:exactMatch HGNC_symbol:DBT ; + skos:exactMatch UMLS:C1413925, + HGNC:2698, + HGNC_symbol:DBT ; biolink:category biolink:Gene . OMIM:248611 a owl:Class ; @@ -88435,13 +90542,14 @@ OMIM:248611 a owl:Class ; PMID:8651316 ; RO:0002525 CHR:9606chr6q14.1 ; RO:0003303 OMIM:248600 ; - oboInOwl:hasDbXref UMLS:C1412760 ; oboInOwl:hasExactSynonym "BCKDHB", "branched-chain keto acid dehydrogenase e1, beta polypeptide", "e1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:594 ; - skos:exactMatch HGNC_symbol:BCKDHB ; + skos:exactMatch UMLS:C1412760, + HGNC:987, + HGNC_symbol:BCKDHB ; biolink:category biolink:Gene . OMIM:248700 a owl:Class ; @@ -88464,10 +90572,10 @@ OMIM:248700 a owl:Class ; PMID:7679543, PMID:8370150, PMID:9727748 ; - oboInOwl:hasDbXref UMLS:C0796033 ; oboInOwl:hasExactSynonym "MWKS", "marden-walker syndrome", "mws" ; + skos:exactMatch UMLS:C0796033 ; biolink:category biolink:Disease . OMIM:248750 a owl:Class ; @@ -88477,14 +90585,14 @@ OMIM:248750 a owl:Class ; OMIM:248760 a owl:Class ; rdfs:label "marfanoid habitus with microcephaly and glomerulonephritis" ; IAO:0000142 PMID:1345513 ; - oboInOwl:hasDbXref UMLS:C1855348 ; - oboInOwl:hasExactSynonym "marfanoid habitus with microcephaly and glomerulonephritis" . + oboInOwl:hasExactSynonym "marfanoid habitus with microcephaly and glomerulonephritis" ; + skos:exactMatch UMLS:C1855348 . OMIM:248770 a owl:Class ; rdfs:label "marfanoid mental retardation syndrome, autosomal" ; IAO:0000142 PMID:6705253 ; - oboInOwl:hasDbXref UMLS:C1855347 ; - oboInOwl:hasExactSynonym "marfanoid mental retardation syndrome, autosomal" . + oboInOwl:hasExactSynonym "marfanoid mental retardation syndrome, autosomal" ; + skos:exactMatch UMLS:C1855347 . OMIM:248810 a owl:Class ; IAO:0100001 OMIM:248800 ; @@ -88495,16 +90603,16 @@ OMIM:248910 a owl:Class ; IAO:0000142 PMID:1345517, PMID:19764024, PMID:2302825 ; - oboInOwl:hasDbXref UMLS:C3151493, - ORPHA:2135 ; - oboInOwl:hasExactSynonym "cutaneous mastocytosis, conductive hearing loss and microtia" . + oboInOwl:hasExactSynonym "cutaneous mastocytosis, conductive hearing loss and microtia" ; + skos:exactMatch UMLS:C3151493, + ORPHA:2135 . OMIM:248950 a owl:Class ; rdfs:label "mcdonough syndrome" ; IAO:0000142 PMID:1189520, PMID:6147215 ; - oboInOwl:hasDbXref UMLS:C0796038 ; - oboInOwl:hasExactSynonym "mcdonough syndrome" . + oboInOwl:hasExactSynonym "mcdonough syndrome" ; + skos:exactMatch UMLS:C0796038 . OMIM:249100 a owl:Class ; rdfs:label "familial mediterranean fever" ; @@ -88598,33 +90706,33 @@ OMIM:249100 a owl:Class ; PMID:9415347, PMID:9450890, PMID:9641750 ; - oboInOwl:hasDbXref UMLS:C0031069, - UMLS:C5399837, - ORPHA:342 ; oboInOwl:hasExactSynonym "FMF", "familial mediterranean fever", "familial mediterranean fever, autosomal recessive", "polyserositis, familial paroxysmal", "polyserositis, recurrent" ; + skos:exactMatch UMLS:C0031069, + UMLS:C5399837, + ORPHA:342 ; biolink:category biolink:Disease . OMIM:249230 a owl:Class ; rdfs:label "megaepiphyseal dwarfism" ; IAO:0000142 PMID:4729988 ; - oboInOwl:hasDbXref UMLS:C1855310 ; - oboInOwl:hasExactSynonym "megaepiphyseal dwarfism" . + oboInOwl:hasExactSynonym "megaepiphyseal dwarfism" ; + skos:exactMatch UMLS:C1855310 . OMIM:249240 a owl:Class ; rdfs:label "megalencephaly with dysmyelination" ; IAO:0000142 PMID:2234324 ; - oboInOwl:hasDbXref UMLS:C1855309 ; oboInOwl:hasExactSynonym "megalencephaly with diffuse white matter hypodensity", - "megalencephaly with dysmyelination" . + "megalencephaly with dysmyelination" ; + skos:exactMatch UMLS:C1855309 . OMIM:249300 a owl:Class ; rdfs:label "megalocornea" ; - oboInOwl:hasDbXref UMLS:C0344530 ; - oboInOwl:hasExactSynonym "megalocornea" . + oboInOwl:hasExactSynonym "megalocornea" ; + skos:exactMatch UMLS:C0344530 . OMIM:249310 a owl:Class ; rdfs:label "megalocornea-mental retardation syndrome" ; @@ -88641,10 +90749,10 @@ OMIM:249310 a owl:Class ; PMID:4805907, PMID:7802008, PMID:8484397 ; - oboInOwl:hasDbXref UMLS:C0796086 ; oboInOwl:hasExactSynonym "megalocornea-mental retardation syndrome", "mmr syndrome", "neuhauser syndrome" ; + skos:exactMatch UMLS:C0796086 ; biolink:category biolink:Disease . OMIM:249400 a owl:Class ; @@ -88658,25 +90766,25 @@ OMIM:249400 a owl:Class ; PMID:22469364, PMID:23392294, PMID:7793388 ; - oboInOwl:hasDbXref UMLS:C0544862 ; oboInOwl:hasExactSynonym "NCMS", "melanosis, neurocutaneous", "neuromelanosis" ; + skos:exactMatch UMLS:C0544862 ; biolink:category biolink:Disease . OMIM:249599 a owl:Class ; rdfs:label "mental retardation syndrome, belgian iia" ; IAO:0000142 PMID:2107046 ; - oboInOwl:hasDbXref UMLS:C1855303 ; - oboInOwl:hasExactSynonym "mental retardation syndrome, belgian iia" . + oboInOwl:hasExactSynonym "mental retardation syndrome, belgian iia" ; + skos:exactMatch UMLS:C1855303 . OMIM:249600 a owl:Class ; rdfs:label "mental retardation syndrome, mietens-weber iia" ; IAO:0000142 PMID:16760739, PMID:5921339 ; - oboInOwl:hasDbXref UMLS:C0265249 ; oboInOwl:hasExactSynonym "mental retardation syndrome, mietens-weber iia", - "mietens-weber syndrome" . + "mietens-weber syndrome" ; + skos:exactMatch UMLS:C0265249 . OMIM:249620 a owl:Class ; rdfs:label "ohdo syndrome" ; @@ -88690,10 +90798,10 @@ OMIM:249620 a owl:Class ; PMID:3723552, PMID:8279489, PMID:9605288 ; - oboInOwl:hasDbXref UMLS:C0796094 ; oboInOwl:hasExactSynonym "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth", "ohdo blepharophimosis syndrome", "ohdo syndrome" ; + skos:exactMatch UMLS:C0796094 ; biolink:category biolink:Disease . OMIM:249630 a owl:Class ; @@ -88701,9 +90809,9 @@ OMIM:249630 a owl:Class ; IAO:0000142 PMID:10190479, PMID:5025484, PMID:9409875 ; - oboInOwl:hasDbXref UMLS:C0796080 ; oboInOwl:hasExactSynonym "mental retardation, buenos aires iia", - "mutchinick syndrome" . + "mutchinick syndrome" ; + skos:exactMatch UMLS:C0796080 . OMIM:249650 a owl:Class ; rdfs:label "mercaptolactate-cysteine disulfiduria" ; @@ -88711,24 +90819,24 @@ OMIM:249650 a owl:Class ; PMID:5131448, PMID:5812433, PMID:6945862 ; - oboInOwl:hasDbXref UMLS:C0796055 ; oboInOwl:hasExactSynonym "MCDU", "disulfiduria, mixed", "mercaptolactate-cysteine disulfiduria" ; + skos:exactMatch UMLS:C0796055 ; biolink:category biolink:Disease . OMIM:249660 a owl:Class ; rdfs:label "mesangial sclerosis, diffuse renal, with ocular abnormalities" ; IAO:0000142 PMID:6809680 ; - oboInOwl:hasDbXref UMLS:C1855282 ; - oboInOwl:hasExactSynonym "mesangial sclerosis, diffuse renal, with ocular abnormalities" . + oboInOwl:hasExactSynonym "mesangial sclerosis, diffuse renal, with ocular abnormalities" ; + skos:exactMatch UMLS:C1855282 . OMIM:249670 a owl:Class ; rdfs:label "mesoaxial hexadactyly and cardiac malformation" ; IAO:0000142 PMID:7241534 ; - oboInOwl:hasDbXref UMLS:C0796057 ; oboInOwl:hasExactSynonym "mesoaxial hexadactyly and cardiac malformation", - "mexican cardiomelic dysplasia" . + "mexican cardiomelic dysplasia" ; + skos:exactMatch UMLS:C0796057 . OMIM:249700 a owl:Class ; rdfs:label "langer mesomelic dysplasia" ; @@ -88747,19 +90855,19 @@ OMIM:249700 a owl:Class ; PMID:7428776, PMID:7586651, PMID:9590292 ; - oboInOwl:hasDbXref UMLS:C0432230, - ORPHA:2632 ; oboInOwl:hasExactSynonym "LMD", "dyschondrosteosis, homozygous", "langer mesomelic dysplasia", "mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible iia" ; + skos:exactMatch UMLS:C0432230, + ORPHA:2632 ; biolink:category biolink:Disease . OMIM:249710 a owl:Class ; rdfs:label "mesomelic limb shortening and bowing" ; IAO:0000142 PMID:8267013 ; - oboInOwl:hasDbXref UMLS:C1855273 ; - oboInOwl:hasExactSynonym "mesomelic limb shortening and bowing" . + oboInOwl:hasExactSynonym "mesomelic limb shortening and bowing" ; + skos:exactMatch UMLS:C1855273 . OMIM:249800 a owl:Class ; owl:deprecated true . @@ -88779,12 +90887,12 @@ OMIM:249900 a owl:Class ; PMID:6415115, PMID:8554069, PMID:9672525 ; - oboInOwl:hasDbXref UMLS:C0268262, - ORPHA:512 ; oboInOwl:hasExactSynonym "MLDSAPB", "metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency", "metachromatic leukodystrophy due to saposin B deficiency", "saposin B deficiency" ; + skos:exactMatch UMLS:C0268262, + ORPHA:512 ; biolink:category biolink:Disease . OMIM:250215 a owl:Class ; @@ -88792,17 +90900,17 @@ OMIM:250215 a owl:Class ; IAO:0000142 PMID:1860252, PMID:6543849, PMID:7487766 ; - oboInOwl:hasDbXref UMLS:C1855243 ; oboInOwl:hasExactSynonym "cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly", "metaphyseal acroscyphodysplasia", "wedge-shaped epiphyses of knees" ; + skos:exactMatch UMLS:C1855243 ; biolink:category biolink:Disease . OMIM:250230 a owl:Class ; rdfs:label "metaphyseal chondrodysplasia, kaitila iia" ; IAO:0000142 PMID:6979929 ; - oboInOwl:hasDbXref UMLS:C1855217 ; - oboInOwl:hasExactSynonym "metaphyseal chondrodysplasia, kaitila iia" . + oboInOwl:hasExactSynonym "metaphyseal chondrodysplasia, kaitila iia" ; + skos:exactMatch UMLS:C1855217 . OMIM:250250 a owl:Class ; rdfs:label "cartilage-hair hypoplasia" ; @@ -88857,34 +90965,34 @@ OMIM:250250 a owl:Class ; PMID:8444246, PMID:9156319, PMID:9809821 ; - oboInOwl:hasDbXref UMLS:C0220748 ; oboInOwl:hasExactSynonym "CHH", "cartilage-hair hypoplasia", "metaphyseal chondrodysplasia, mckusick iia" ; + skos:exactMatch UMLS:C0220748 ; biolink:category biolink:Disease . OMIM:250300 a owl:Class ; rdfs:label "metaphyseal chondrodysplasia, pena iia" ; IAO:0000142 PMID:13840592, PMID:4252977 ; - oboInOwl:hasDbXref UMLS:C1855195 ; - oboInOwl:hasExactSynonym "metaphyseal chondrodysplasia, pena iia" . + oboInOwl:hasExactSynonym "metaphyseal chondrodysplasia, pena iia" ; + skos:exactMatch UMLS:C1855195 . OMIM:250420 a owl:Class ; rdfs:label "metaphyseal dysostosis, mental retardation, and conductive deafness" ; - oboInOwl:hasDbXref UMLS:C1855175 ; - oboInOwl:hasExactSynonym "metaphyseal dysostosis, mental retardation, and conductive deafness" . + oboInOwl:hasExactSynonym "metaphyseal dysostosis, mental retardation, and conductive deafness" ; + skos:exactMatch UMLS:C1855175 . OMIM:250450 a owl:Class ; rdfs:label "metaphyseal dysplasia, anetoderma, and optic atrophy" ; - oboInOwl:hasDbXref UMLS:C1855174 ; - oboInOwl:hasExactSynonym "metaphyseal dysplasia, anetoderma, and optic atrophy" . + oboInOwl:hasExactSynonym "metaphyseal dysplasia, anetoderma, and optic atrophy" ; + skos:exactMatch UMLS:C1855174 . OMIM:250500 a owl:Class ; rdfs:label "metaphyseal modeling abnormality, skin lesions, and spastic paraplegia" ; IAO:0000142 PMID:5697256 ; - oboInOwl:hasDbXref UMLS:C1855164 ; - oboInOwl:hasExactSynonym "metaphyseal modeling abnormality, skin lesions, and spastic paraplegia" . + oboInOwl:hasExactSynonym "metaphyseal modeling abnormality, skin lesions, and spastic paraplegia" ; + skos:exactMatch UMLS:C1855164 . OMIM:250600 a owl:Class ; IAO:0100001 OMIM:156530 ; @@ -88897,16 +91005,16 @@ OMIM:250650 a owl:Class ; PMID:5486278, PMID:6772089, PMID:70691 ; - oboInOwl:hasDbXref UMLS:C1855163 ; - oboInOwl:hasExactSynonym "methane production" . + oboInOwl:hasExactSynonym "methane production" ; + skos:exactMatch UMLS:C1855163 . OMIM:250700 a owl:Class ; rdfs:label "methemoglobin reductase deficiency" ; IAO:0000142 PMID:4383300 ; - oboInOwl:hasDbXref UMLS:C0472786 ; oboInOwl:hasExactSynonym "methemoglobin reductase deficiency", "nadph-dependent methemoglobin reductase deficiency", - "tpnh-methemoglobin reductase deficiency" . + "tpnh-methemoglobin reductase deficiency" ; + skos:exactMatch UMLS:C0472786 . OMIM:250900 a owl:Class ; rdfs:label "methionine malabsorption syndrome" ; @@ -88915,10 +91023,10 @@ OMIM:250900 a owl:Class ; PMID:14281543, PMID:5678411, PMID:5897673 ; - oboInOwl:hasDbXref UMLS:C0268622 ; oboInOwl:hasExactSynonym "methionine malabsorption syndrome", "oasthouse urine disease", "smith-strang disease" ; + skos:exactMatch UMLS:C0268622 ; biolink:category biolink:Disease . OMIM:250940 a owl:Class ; @@ -88937,12 +91045,12 @@ OMIM:250940 a owl:Class ; PMID:8968737, PMID:9453374, PMID:9683607 ; - oboInOwl:hasDbXref UMLS:C1855128 ; oboInOwl:hasExactSynonym "HMAG", "homocystinuria-megaloblastic anemia due to defect 1n cobalamin metabolism, cblg complementation iia", "homocystinuria-megaloblastic anemia, cblg complementation iia", "methionine synthase deficiency", "methylcobalamin deficiency, cblg iia" ; + skos:exactMatch UMLS:C1855128 ; biolink:category biolink:Disease . OMIM:250951 a owl:Class ; @@ -88950,11 +91058,11 @@ OMIM:250951 a owl:Class ; IAO:0000142 PMID:1382150, PMID:15719488, PMID:21646875 ; - oboInOwl:hasDbXref UMLS:C1855126 ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria, iia 4", "MGCA4", "mga, iia 4" ; - rdfs:subClassOf OMIMPS:250950 . + rdfs:subClassOf OMIMPS:250950 ; + skos:exactMatch UMLS:C1855126 . OMIM:251170 a owl:Class ; rdfs:label "MVK" ; @@ -88982,26 +91090,27 @@ OMIM:251170 a owl:Class ; PMID:9146921 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:175900 ; - oboInOwl:hasDbXref UMLS:C1417508 ; oboInOwl:hasExactSynonym "MVK", "mevalonate kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4598 ; - skos:exactMatch HGNC_symbol:MVK ; + skos:exactMatch UMLS:C1417508, + HGNC:7530, + HGNC_symbol:MVK ; biolink:category biolink:Gene . OMIM:251190 a owl:Class ; rdfs:label "microcephalic primordial dwarfism, toriello iia" ; IAO:0000142 PMID:3799711 ; - oboInOwl:hasDbXref UMLS:C1855089 ; - oboInOwl:hasExactSynonym "microcephalic primordial dwarfism, toriello iia" . + oboInOwl:hasExactSynonym "microcephalic primordial dwarfism, toriello iia" ; + skos:exactMatch UMLS:C1855089 . OMIM:251220 a owl:Class ; rdfs:label "microcephaly-cardiomyopathy" ; IAO:0000142 PMID:10544231, PMID:1956062 ; - oboInOwl:hasDbXref UMLS:C1855080 ; - oboInOwl:hasExactSynonym "microcephaly-cardiomyopathy" . + oboInOwl:hasExactSynonym "microcephaly-cardiomyopathy" ; + skos:exactMatch UMLS:C1855080 . OMIM:251240 a owl:Class ; rdfs:label "microcephaly with chemotactic defect and transient hypogammaglobulinemia" ; @@ -89009,32 +91118,32 @@ OMIM:251240 a owl:Class ; PMID:10733244, PMID:3746838, PMID:8728697 ; - oboInOwl:hasDbXref UMLS:C1855078 ; - oboInOwl:hasExactSynonym "microcephaly with chemotactic defect and transient hypogammaglobulinemia" . + oboInOwl:hasExactSynonym "microcephaly with chemotactic defect and transient hypogammaglobulinemia" ; + skos:exactMatch UMLS:C1855078 . OMIM:251250 a owl:Class ; rdfs:label "microcephaly with cervical spine fusion anomalies" ; IAO:0000142 PMID:5033742 ; - oboInOwl:hasDbXref UMLS:C0796066 ; - oboInOwl:hasExactSynonym "microcephaly with cervical spine fusion anomalies" . + oboInOwl:hasExactSynonym "microcephaly with cervical spine fusion anomalies" ; + skos:exactMatch UMLS:C0796066 . OMIM:251255 a owl:Class ; rdfs:label "jawad syndrome" ; IAO:0000142 PMID:18071751, PMID:21998596, PMID:8434622 ; - oboInOwl:hasDbXref UMLS:C0796063 ; oboInOwl:hasExactSynonym "JWDS", "jawad syndrome", "kelly syndrome", "microcephaly with mental retardation and digital anomalies" ; + skos:exactMatch UMLS:C0796063 ; biolink:category biolink:Disease . OMIM:251400 a owl:Class ; rdfs:label "microcolon" ; IAO:0000142 PMID:14786418 ; - oboInOwl:hasDbXref UMLS:C0266200 ; - oboInOwl:hasExactSynonym "microcolon" . + oboInOwl:hasExactSynonym "microcolon" ; + skos:exactMatch UMLS:C0266200 . OMIM:251450 a owl:Class ; rdfs:label "desbuquois dysplasia 1" ; @@ -89063,15 +91172,15 @@ OMIM:251450 a owl:Class ; PMID:7606320, PMID:7977470, PMID:8956941 ; - oboInOwl:hasDbXref UMLS:C0432242, - UMLS:C4012146, - ORPHA:1425 ; oboInOwl:hasExactSynonym "DBQD1", "desbuquois dysplasia 1", "desbuquois dysplasia, kim variant", "desbuquois syndrome", "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" ; rdfs:subClassOf OMIMPS:251450 ; + skos:exactMatch UMLS:C0432242, + UMLS:C4012146, + ORPHA:1425 ; biolink:category biolink:Disease . OMIM:251455 a owl:Class ; @@ -89086,16 +91195,16 @@ OMIM:251505 a owl:Class ; rdfs:label "microphthalmia, isolated, with coloboma 4" ; IAO:0000142 PMID:10711890, PMID:1621783 ; - oboInOwl:hasDbXref UMLS:C1855053 ; oboInOwl:hasExactSynonym "MCOPCB4", "microphthalmia with colobomatous cyst", "microphthalmia, isolated, with coloboma 4" ; - rdfs:subClassOf OMIMPS:300345 . + rdfs:subClassOf OMIMPS:300345 ; + skos:exactMatch UMLS:C1855053 . OMIM:251700 a owl:Class ; rdfs:label "microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies" ; - oboInOwl:hasDbXref UMLS:C1968637 ; - oboInOwl:hasExactSynonym "microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies" . + oboInOwl:hasExactSynonym "microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies" ; + skos:exactMatch UMLS:C1968637 . OMIM:251800 a owl:Class ; rdfs:label "microtia with meatal atresia and conductive deafness" ; @@ -89111,8 +91220,8 @@ OMIM:251800 a owl:Class ; PMID:688691, PMID:7139104, PMID:8588593 ; - oboInOwl:hasDbXref UMLS:C2931502 ; oboInOwl:hasExactSynonym "microtia with meatal atresia and conductive deafness" ; + skos:exactMatch UMLS:C2931502 ; biolink:category biolink:Disease . OMIM:251880 a owl:Class ; @@ -89131,10 +91240,10 @@ OMIM:251880 a owl:Class ; PMID:6314875, PMID:8394647, PMID:9175742 ; - oboInOwl:hasDbXref UMLS:C3151513 ; oboInOwl:hasExactSynonym "MTDPS3", "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C3151513 ; biolink:category biolink:Disease . OMIM:251890 a owl:Class ; @@ -89144,8 +91253,8 @@ OMIM:251890 a owl:Class ; OMIM:251945 a owl:Class ; rdfs:label "mitochondrial myopathy with a defect 1n mitochondrial-protein transport" ; IAO:0000142 PMID:2113185 ; - oboInOwl:hasDbXref UMLS:C1855034 ; - oboInOwl:hasExactSynonym "mitochondrial myopathy with a defect 1n mitochondrial-protein transport" . + oboInOwl:hasExactSynonym "mitochondrial myopathy with a defect 1n mitochondrial-protein transport" ; + skos:exactMatch UMLS:C1855034 . OMIM:252011 a owl:Class ; rdfs:label "mitochondrial complex 2 deficiency, nuclear iia 1" ; @@ -89162,13 +91271,13 @@ OMIM:252011 a owl:Class ; PMID:7609447, PMID:7839816, PMID:8174601 ; - oboInOwl:hasDbXref UMLS:C1855008, - ORPHA:3208 ; oboInOwl:hasExactSynonym "MC2DN1", "mitochondrial complex 2 deficiency, nuclear iia 1", "succinate coq reductase deficiency", "succinate dehydrogenase deficiency" ; rdfs:subClassOf OMIMPS:252011 ; + skos:exactMatch UMLS:C1855008, + ORPHA:3208 ; biolink:category biolink:Disease . OMIM:252030 a owl:Class ; @@ -89192,12 +91301,12 @@ OMIM:252100 a owl:Class ; PMID:6478638, PMID:6705246, PMID:8835325 ; - oboInOwl:hasDbXref UMLS:C0026363 ; oboInOwl:hasExactSynonym "mohr syndrome", "ofds 2", "oral-facial-digital syndrome, iia 2", "orofaciodigital syndrome 2" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C0026363 ; biolink:category biolink:Disease . OMIM:252200 a owl:Class ; @@ -89208,23 +91317,23 @@ OMIM:252200 a owl:Class ; OMIM:252250 a owl:Class ; rdfs:label "monocyte chemotactic disorder" ; IAO:0000142 PMID:4571566 ; - oboInOwl:hasDbXref UMLS:C1854982 ; - oboInOwl:hasExactSynonym "monocyte chemotactic disorder" . + oboInOwl:hasExactSynonym "monocyte chemotactic disorder" ; + skos:exactMatch UMLS:C1854982 . OMIM:252300 a owl:Class ; rdfs:label "morquio syndrome c" ; IAO:0000142 PMID:3087664, PMID:6219649, PMID:6224421 ; - oboInOwl:hasDbXref UMLS:C2931140 ; oboInOwl:hasExactSynonym "morquio syndrome c", - "morquio syndrome, nonkeratosulfate-excreting iia" . + "morquio syndrome, nonkeratosulfate-excreting iia" ; + skos:exactMatch UMLS:C2931140 . OMIM:252320 a owl:Class ; rdfs:label "motor neuropathy, peripheral, with dysautonomia" ; IAO:0000142 PMID:7282784 ; - oboInOwl:hasDbXref UMLS:C1854961 ; - oboInOwl:hasExactSynonym "motor neuropathy, peripheral, with dysautonomia" . + oboInOwl:hasExactSynonym "motor neuropathy, peripheral, with dysautonomia" ; + skos:exactMatch UMLS:C1854961 . OMIM:252500 a owl:Class ; rdfs:label "mucolipidosis 2 alpha/beta" ; @@ -89282,12 +91391,12 @@ OMIM:252500 a owl:Class ; PMID:9600734, PMID:971412, PMID:990381 ; - oboInOwl:hasDbXref UMLS:C0020725, - UMLS:C2673377 ; oboInOwl:hasExactSynonym "i-cell disease", "ml 2 alpha/beta", "mucolipidosis 2", "mucolipidosis 2 alpha/beta" ; + skos:exactMatch UMLS:C0020725, + UMLS:C2673377 ; biolink:category biolink:Disease . OMIM:252700 a owl:Class ; @@ -89295,8 +91404,8 @@ OMIM:252700 a owl:Class ; IAO:0000142 PMID:4246484, PMID:4348719, PMID:4988173 ; - oboInOwl:hasDbXref UMLS:C0220752 ; oboInOwl:hasExactSynonym "mucopolysaccharidoses, unclassified types" ; + skos:exactMatch UMLS:C0220752 ; biolink:category biolink:Disease . OMIM:252800 a owl:Class ; @@ -89343,17 +91452,18 @@ OMIM:252800 a owl:Class ; PMID:9427149 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:607016 ; - oboInOwl:hasDbXref UMLS:C0026708, - UMLS:C0086431, - UMLS:C0086795, - UMLS:C1442485, - UMLS:C4016443 ; oboInOwl:hasExactSynonym "IDUA", "alpha-l-iduronidase", "iduronidase, alpha-l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3425 ; - skos:exactMatch HGNC_symbol:IDUA ; + skos:exactMatch UMLS:C0026708, + UMLS:C0086431, + UMLS:C0086795, + UMLS:C1442485, + UMLS:C4016443, + HGNC:5391, + HGNC_symbol:IDUA ; biolink:category biolink:Gene . OMIM:252930 a owl:Class ; @@ -89377,15 +91487,15 @@ OMIM:252930 a owl:Class ; PMID:6402508, PMID:6786804, PMID:6794963 ; - oboInOwl:hasDbXref UMLS:C0086649, - ORPHA:581, - ORPHA:79271 ; oboInOwl:hasExactSynonym "MPS3C", "acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency", "mps 3c", "mucopolysaccharidosis, iia 3c", "sanfilippo syndrome c" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0086649, + ORPHA:581, + ORPHA:79271 ; biolink:category biolink:Disease . OMIM:253230 a owl:Class ; @@ -89396,8 +91506,8 @@ OMIM:253240 a owl:Class ; rdfs:label "mucus inspissation of respiratory tract" ; IAO:0000142 PMID:1190822, PMID:4851029 ; - oboInOwl:hasDbXref UMLS:C1854729 ; oboInOwl:hasExactSynonym "mucus inspissation of respiratory tract" ; + skos:exactMatch UMLS:C1854729 ; biolink:category biolink:Disease . OMIM:253280 a owl:Class ; @@ -89417,13 +91527,13 @@ OMIM:253280 a owl:Class ; PMID:2751061, PMID:581135, PMID:9915951 ; - oboInOwl:hasDbXref UMLS:C3151519, - ORPHA:588, - ORPHA:899 ; oboInOwl:hasExactSynonym "MDDGA3", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3", "walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3151519, + ORPHA:588, + ORPHA:899 ; biolink:category biolink:Disease . OMIM:253300 a owl:Class ; @@ -89527,21 +91637,21 @@ OMIM:253300 a owl:Class ; PMID:9731538, PMID:9864863, PMID:9950358 ; - oboInOwl:hasDbXref UMLS:C0043116 ; oboInOwl:hasExactSynonym "SMA1", "muscular atrophy, infantile", "sma 1", "sma, infantile acute form", "spinal muscular atrophy, iia 1", "werdnig-hoffmann disease" ; + skos:exactMatch UMLS:C0043116 ; biolink:category biolink:Disease . OMIM:253320 a owl:Class ; rdfs:label "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" ; IAO:0000142 PMID:3970066 ; - oboInOwl:hasDbXref UMLS:C1854663 ; oboInOwl:hasExactSynonym "chudley syndrome", - "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" . + "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" ; + skos:exactMatch UMLS:C1854663 . OMIM:253500 a owl:Class ; owl:deprecated true . @@ -89565,19 +91675,19 @@ OMIM:253550 a owl:Class ; PMID:8782046, PMID:8882869, PMID:9450884 ; - oboInOwl:hasDbXref UMLS:C0393538 ; oboInOwl:hasExactSynonym "SMA2", "muscular atrophy, spinal, infantile chronic form", "muscular atrophy, spinal, intermediate iia", "sma 2", "spinal muscular atrophy, iia 2" ; + skos:exactMatch UMLS:C0393538 ; biolink:category biolink:Disease . OMIM:253590 a owl:Class ; rdfs:label "muscular dystrophy, adult-onset, with leukoencephalopathy" ; IAO:0000142 PMID:1456743 ; - oboInOwl:hasDbXref UMLS:C1854646 ; - oboInOwl:hasExactSynonym "muscular dystrophy, adult-onset, with leukoencephalopathy" . + oboInOwl:hasExactSynonym "muscular dystrophy, adult-onset, with leukoencephalopathy" ; + skos:exactMatch UMLS:C1854646 . OMIM:253601 a owl:Class ; rdfs:label "muscular dystrophy, limb-girdle, autosomal recessive 2" ; @@ -89602,13 +91712,13 @@ OMIM:253601 a owl:Class ; PMID:9009996, PMID:9192858, PMID:9731527 ; - oboInOwl:hasDbXref UMLS:C1850889, - ORPHA:268 ; oboInOwl:hasExactSynonym "LGMDR2", "muscular dystrophy, limb-girdle, iia 2b", "muscular dystrophy, limb-girdle, iia 3", "muscular dystrophy, limb-girdle, autosomal recessive 2" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C1850889, + ORPHA:268 ; biolink:category biolink:Disease . OMIM:253800 a owl:Class ; @@ -89646,12 +91756,12 @@ OMIM:253800 a owl:Class ; PMID:9099829, PMID:9119396, PMID:9690476 ; - oboInOwl:hasDbXref UMLS:C0410174 ; oboInOwl:hasExactSynonym "MDDGA4", "fukuyama congenital muscular dystrophy", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 4", "walker-warburg syndrome or muscle-eye-brain disease, fktn-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C0410174 ; biolink:category biolink:Disease . OMIM:253850 a owl:Class ; @@ -89663,28 +91773,28 @@ OMIM:253900 a owl:Class ; IAO:0000142 PMID:13471804, PMID:13942250, PMID:3903500 ; - oboInOwl:hasDbXref UMLS:C1850865 ; oboInOwl:hasExactSynonym "muscular dystrophy, congenital, producing arthrogryposis" ; + skos:exactMatch UMLS:C1850865 ; biolink:category biolink:Disease . OMIM:254000 a owl:Class ; rdfs:label "muscular dystrophy, congenital, with infantile cataract and hypogonadism" ; IAO:0000142 PMID:13385309 ; - oboInOwl:hasDbXref UMLS:C1850864 ; - oboInOwl:hasExactSynonym "muscular dystrophy, congenital, with infantile cataract and hypogonadism" . + oboInOwl:hasExactSynonym "muscular dystrophy, congenital, with infantile cataract and hypogonadism" ; + skos:exactMatch UMLS:C1850864 . OMIM:254100 a owl:Class ; rdfs:label "muscular dystrophy, congenital, with rapid progression" ; IAO:0000142 PMID:13988674, PMID:14238070 ; - oboInOwl:hasDbXref UMLS:C1850840 ; - oboInOwl:hasExactSynonym "muscular dystrophy, congenital, with rapid progression" . + oboInOwl:hasExactSynonym "muscular dystrophy, congenital, with rapid progression" ; + skos:exactMatch UMLS:C1850840 . OMIM:254120 a owl:Class ; rdfs:label "muscular hypertonia, lethal" ; IAO:0000142 PMID:4426128 ; - oboInOwl:hasDbXref UMLS:C1850827 ; - oboInOwl:hasExactSynonym "muscular hypertonia, lethal" . + oboInOwl:hasExactSynonym "muscular hypertonia, lethal" ; + skos:exactMatch UMLS:C1850827 . OMIM:254130 a owl:Class ; rdfs:label "miyoshi muscular dystrophy 1" ; @@ -89704,12 +91814,12 @@ OMIM:254130 a owl:Class ; PMID:7836950, PMID:8808603, PMID:9731526 ; - oboInOwl:hasDbXref UMLS:C4551973 ; oboInOwl:hasExactSynonym "MMD1", "miyoshi muscular dystrophy 1", "miyoshi myopathy", "muscular dystrophy, distal, late-onset, autosomal recessive" ; rdfs:subClassOf OMIMPS:254130 ; + skos:exactMatch UMLS:C4551973 ; biolink:category biolink:Disease . OMIM:254150 a owl:Class ; @@ -89717,15 +91827,15 @@ OMIM:254150 a owl:Class ; IAO:0000142 PMID:1190740, PMID:4696259, PMID:9246445 ; - oboInOwl:hasDbXref UMLS:C1850807 ; oboInOwl:hasExactSynonym "musk, inability to smell" ; + skos:exactMatch UMLS:C1850807 ; biolink:category biolink:Disease . OMIM:254190 a owl:Class ; rdfs:label "myasthenia, congenital, refractory to acetylcholinesterase inhibitors" ; IAO:0000142 PMID:1313543 ; - oboInOwl:hasDbXref UMLS:C1850806 ; - oboInOwl:hasExactSynonym "myasthenia, congenital, refractory to acetylcholinesterase inhibitors" . + oboInOwl:hasExactSynonym "myasthenia, congenital, refractory to acetylcholinesterase inhibitors" ; + skos:exactMatch UMLS:C1850806 . OMIM:254195 a owl:Class ; IAO:0100001 OMIM:608931 ; @@ -89753,9 +91863,9 @@ OMIM:254200 a owl:Class ; PMID:7191069, PMID:7887131, PMID:7908425 ; - oboInOwl:hasDbXref UMLS:C0026896 ; oboInOwl:hasExactSynonym "MG", - "myasthenia gravis" . + "myasthenia gravis" ; + skos:exactMatch UMLS:C0026896 . OMIM:254400 a owl:Class ; rdfs:label "mycosis fungoides" ; @@ -89764,8 +91874,8 @@ OMIM:254400 a owl:Class ; PMID:5246760, PMID:7055783, PMID:7425665 ; - oboInOwl:hasDbXref UMLS:C0026948 ; - oboInOwl:hasExactSynonym "mycosis fungoides" . + oboInOwl:hasExactSynonym "mycosis fungoides" ; + skos:exactMatch UMLS:C0026948 . OMIM:254450 a owl:Class ; rdfs:label "myelofibrosis" ; @@ -89784,10 +91894,10 @@ OMIM:254450 a owl:Class ; PMID:25043017, PMID:7436463, PMID:9766805 ; - oboInOwl:hasDbXref UMLS:C0026987, - ORPHA:824 ; oboInOwl:hasExactSynonym "myelofibrosis", "myelofibrosis with myeloid metaplasia" ; + skos:exactMatch UMLS:C0026987, + ORPHA:824 ; biolink:category biolink:Disease . OMIM:254600 a owl:Class ; @@ -89812,30 +91922,30 @@ OMIM:254600 a owl:Class ; PMID:9354683, PMID:9468285, PMID:9637725 ; - oboInOwl:hasDbXref UMLS:C0398595, - ORPHA:2587 ; oboInOwl:hasExactSynonym "MPOD", "mpo deficiency", "myeloperoxidase deficiency" ; + skos:exactMatch UMLS:C0398595, + ORPHA:2587 ; biolink:category biolink:Disease . OMIM:254700 a owl:Class ; rdfs:label "myeloproliferative disease, autosomal recessive" ; IAO:0000142 PMID:5215211 ; - oboInOwl:hasDbXref UMLS:C1850779 ; - oboInOwl:hasExactSynonym "myeloproliferative disease, autosomal recessive" . + oboInOwl:hasExactSynonym "myeloproliferative disease, autosomal recessive" ; + skos:exactMatch UMLS:C1850779 . OMIM:254950 a owl:Class ; rdfs:label "myopathy, granulovacuolar lobular, with electrical myotonia" ; IAO:0000142 PMID:6294254 ; - oboInOwl:hasDbXref UMLS:C1850745 ; - oboInOwl:hasExactSynonym "myopathy, granulovacuolar lobular, with electrical myotonia" . + oboInOwl:hasExactSynonym "myopathy, granulovacuolar lobular, with electrical myotonia" ; + skos:exactMatch UMLS:C1850745 . OMIM:254960 a owl:Class ; rdfs:label "myopathy due to malate-aspartate shuttle defect" ; IAO:0000142 PMID:3440868 ; - oboInOwl:hasDbXref UMLS:C1850744 ; - oboInOwl:hasExactSynonym "myopathy due to malate-aspartate shuttle defect" . + oboInOwl:hasExactSynonym "myopathy due to malate-aspartate shuttle defect" ; + skos:exactMatch UMLS:C1850744 . OMIM:255110 a owl:Class ; rdfs:label "carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced" ; @@ -89867,12 +91977,12 @@ OMIM:255110 a owl:Class ; PMID:8358442, PMID:874682, PMID:8786066 ; - oboInOwl:hasDbXref UMLS:C1833508 ; oboInOwl:hasExactSynonym "carnitine palmitoyltransferase 2 deficiency, adult-onset", "carnitine palmitoyltransferase 2 deficiency, myopathic", "carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced", "cpt 2 deficiency, myopathic", "cpt2 deficiency, late-onset" ; + skos:exactMatch UMLS:C1833508 ; biolink:category biolink:Disease . OMIM:255140 a owl:Class ; @@ -89880,19 +91990,19 @@ OMIM:255140 a owl:Class ; IAO:0000142 PMID:14163769, PMID:5638542, PMID:5910899 ; - oboInOwl:hasDbXref UMLS:C1850717 ; - oboInOwl:hasExactSynonym "myopathy with giant abnormal mitochondria" . + oboInOwl:hasExactSynonym "myopathy with giant abnormal mitochondria" ; + skos:exactMatch UMLS:C1850717 . OMIM:255160 a owl:Class ; rdfs:label "myopathy, myosin storage, autosomal recessive" ; IAO:0000142 PMID:14659406, PMID:17372140, PMID:25666907 ; - oboInOwl:hasDbXref UMLS:C1850709, - ORPHA:53698 ; oboInOwl:hasExactSynonym "MSMB", "myopathy, hyaline body, autosomal recessive", "myopathy, myosin storage, autosomal recessive" ; + skos:exactMatch UMLS:C1850709, + ORPHA:53698 ; biolink:category biolink:Disease . OMIM:255170 a owl:Class ; @@ -89903,17 +92013,17 @@ OMIM:255300 a owl:Class ; rdfs:label "batten-turner congenital myopathy" ; IAO:0000142 PMID:13994900, PMID:18151579 ; - oboInOwl:hasDbXref UMLS:C0027127 ; oboInOwl:hasExactSynonym "batten-turner congenital myopathy" ; + skos:exactMatch UMLS:C0027127 ; biolink:category biolink:Disease . OMIM:255600 a owl:Class ; rdfs:label "myosclerosis, autosomal recessive" ; IAO:0000142 PMID:18852439 ; - oboInOwl:hasDbXref UMLS:C1850671 ; oboInOwl:hasExactSynonym "myopathy, myosclerotic", "myosclerosis, autosomal recessive", "myosclerosis, congenital, of lowenthal" ; + skos:exactMatch UMLS:C1850671 ; biolink:category biolink:Disease . OMIM:255700 a owl:Class ; @@ -89935,22 +92045,22 @@ OMIM:255700 a owl:Class ; PMID:6855798, PMID:7951242, PMID:8301644 ; - oboInOwl:hasDbXref UMLS:C0751360 ; oboInOwl:hasExactSynonym "becker disease", "myotonia congenita, autosomal recessive", "myotonia, generalized" ; + skos:exactMatch UMLS:C0751360 ; biolink:category biolink:Disease . OMIM:255710 a owl:Class ; rdfs:label "myotonia with skeletal abnormalities and mental retardation" ; IAO:0000142 PMID:6716408 ; - oboInOwl:hasDbXref UMLS:C1850654 ; - oboInOwl:hasExactSynonym "myotonia with skeletal abnormalities and mental retardation" . + oboInOwl:hasExactSynonym "myotonia with skeletal abnormalities and mental retardation" ; + skos:exactMatch UMLS:C1850654 . OMIM:255900 a owl:Class ; rdfs:label "myxedema" ; - oboInOwl:hasDbXref UMLS:C0027145 ; - oboInOwl:hasExactSynonym "myxedema" . + oboInOwl:hasExactSynonym "myxedema" ; + skos:exactMatch UMLS:C0027145 . OMIM:255960 a owl:Class ; rdfs:label "myxoma, intracardiac" ; @@ -89969,9 +92079,9 @@ OMIM:255960 a owl:Class ; PMID:6556173, PMID:7564466, PMID:8275787 ; - oboInOwl:hasDbXref UMLS:C2931787 ; oboInOwl:hasExactSynonym "atrial myxoma, familial", "myxoma, intracardiac" ; + skos:exactMatch UMLS:C2931787 ; biolink:category biolink:Disease . OMIM:255980 a owl:Class ; @@ -89981,8 +92091,8 @@ OMIM:255980 a owl:Class ; OMIM:255990 a owl:Class ; rdfs:label "nathalie syndrome" ; IAO:0000142 PMID:1204231 ; - oboInOwl:hasDbXref UMLS:C1850626 ; - oboInOwl:hasExactSynonym "nathalie syndrome" . + oboInOwl:hasExactSynonym "nathalie syndrome" ; + skos:exactMatch UMLS:C1850626 . OMIM:256000 a owl:Class ; rdfs:label "leigh syndrome" ; @@ -90014,16 +92124,16 @@ OMIM:256000 a owl:Class ; PMID:8687187, PMID:8687192, PMID:9837811 ; - oboInOwl:hasDbXref UMLS:C0023264, + oboInOwl:hasExactSynonym "LS", + "leigh syndrome", + "necrotizing encephalopathy, infantile subacute, of leigh" ; + skos:exactMatch UMLS:C0023264, UMLS:C1838951, UMLS:C1850597, UMLS:C1850598, UMLS:C1850599, UMLS:C1850600, UMLS:C2931891 ; - oboInOwl:hasExactSynonym "LS", - "leigh syndrome", - "necrotizing encephalopathy, infantile subacute, of leigh" ; biolink:category biolink:Disease . OMIM:256020 a owl:Class ; @@ -90037,14 +92147,14 @@ OMIM:256020 a owl:Class ; PMID:32791958, PMID:6507504, PMID:7158631 ; - oboInOwl:hasDbXref UMLS:C0403548, - ORPHA:2613 ; oboInOwl:hasExactSynonym "FSGS10", "focal segmental glomerulosclerosis 10", "glomerular basement membrane disease, nail-patella syndrome iia", "glomerulosclerosis, focal segmental, 10", "nail-patella-like renal disease" ; rdfs:subClassOf OMIMPS:603278 ; + skos:exactMatch UMLS:C0403548, + ORPHA:2613 ; biolink:category biolink:Disease . OMIM:256050 a owl:Class ; @@ -90060,14 +92170,14 @@ OMIM:256050 a owl:Class ; PMID:8571951, PMID:8723100, PMID:8931695 ; - oboInOwl:hasDbXref UMLS:C1850554, - UMLS:C1850555 ; oboInOwl:hasExactSynonym "AO2", "aoii", "atelosteogenesis, iia 2", "lange 50a chapelle dysplasia", "neonatal osseous dysplasia 1" ; rdfs:subClassOf OMIMPS:108720 ; + skos:exactMatch UMLS:C1850554, + UMLS:C1850555 ; biolink:category biolink:Disease . OMIM:256100 a owl:Class ; @@ -90105,19 +92215,19 @@ OMIM:256100 a owl:Class ; PMID:881899, PMID:9326933, PMID:9361039 ; - oboInOwl:hasDbXref UMLS:C4551979 ; oboInOwl:hasExactSynonym "NPHP1", "nephronophthisis 1", "nephronophthisis, familial juvenile", "nph1" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C4551979 ; biolink:category biolink:Disease . OMIM:256120 a owl:Class ; rdfs:label "nephropathy, deafness, and hyperparathyroidism" ; IAO:0000142 PMID:2732989 ; - oboInOwl:hasDbXref UMLS:C1850553 ; - oboInOwl:hasExactSynonym "nephropathy, deafness, and hyperparathyroidism" . + oboInOwl:hasExactSynonym "nephropathy, deafness, and hyperparathyroidism" ; + skos:exactMatch UMLS:C1850553 . OMIM:256150 a owl:Class ; rdfs:label "nephrosialidosis" ; @@ -90127,14 +92237,14 @@ OMIM:256150 a owl:Class ; PMID:610425, PMID:747491, PMID:747492 ; - oboInOwl:hasDbXref UMLS:C0268232 ; - oboInOwl:hasExactSynonym "nephrosialidosis" . + oboInOwl:hasExactSynonym "nephrosialidosis" ; + skos:exactMatch UMLS:C0268232 . OMIM:256200 a owl:Class ; rdfs:label "nephrosis with deafness and urinary tract and digital malformations" ; IAO:0000142 PMID:13872585 ; - oboInOwl:hasDbXref UMLS:C1850552 ; - oboInOwl:hasExactSynonym "nephrosis with deafness and urinary tract and digital malformations" . + oboInOwl:hasExactSynonym "nephrosis with deafness and urinary tract and digital malformations" ; + skos:exactMatch UMLS:C1850552 . OMIM:256340 a owl:Class ; IAO:0100001 OMIM:146255 ; @@ -90204,8 +92314,6 @@ OMIM:256450 a owl:Class ; PMID:9469993, PMID:9727845, PMID:9769320 ; - oboInOwl:hasDbXref UMLS:C2931832, - UMLS:C3888018 ; oboInOwl:hasExactSynonym "HHF1", "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia", "hyperinsulinemic hypoglycemia, familial, 1", @@ -90215,6 +92323,8 @@ OMIM:256450 a owl:Class ; "nesidioblastosis of pancreas", "persistent hyperinsulinemic hypoglycemia of infancy" ; rdfs:subClassOf OMIMPS:256450 ; + skos:exactMatch UMLS:C2931832, + UMLS:C3888018 ; biolink:category biolink:Disease . OMIM:256520 a owl:Class ; @@ -90243,12 +92353,12 @@ OMIM:256520 a owl:Class ; PMID:7625453, PMID:8375108, PMID:8843479 ; - oboInOwl:hasDbXref UMLS:C0265218, - UMLS:C4551478 ; oboInOwl:hasExactSynonym "NLS1", "neu-laxova syndrome", "neu-laxova syndrome 1" ; rdfs:subClassOf OMIMPS:256520 ; + skos:exactMatch UMLS:C0265218, + UMLS:C4551478 ; biolink:category biolink:Disease . OMIM:256600 a owl:Class ; @@ -90278,13 +92388,13 @@ OMIM:256600 a owl:Class ; PMID:5829994, PMID:7103414, PMID:7158329 ; - oboInOwl:hasDbXref UMLS:C0270724 ; oboInOwl:hasExactSynonym "NBIA2A", "neuroaxonal dystrophy, infantile", "neurodegeneration with brain iron accumulation 2a", "neurodegeneration, pla2g6-associated", "seitelberger disease" ; rdfs:subClassOf OMIMPS:234200 ; + skos:exactMatch UMLS:C0270724 ; biolink:category biolink:Disease . OMIM:256690 a owl:Class ; @@ -90292,9 +92402,9 @@ OMIM:256690 a owl:Class ; IAO:0000142 PMID:11310993, PMID:7081297, PMID:9354842 ; - oboInOwl:hasDbXref UMLS:C0796088 ; oboInOwl:hasExactSynonym "neurofaciodigitorenal syndrome", - "nfdr syndrome" . + "nfdr syndrome" ; + skos:exactMatch UMLS:C0796088 . OMIM:256710 a owl:Class ; rdfs:label "elejalde disease" ; @@ -90307,15 +92417,15 @@ OMIM:256710 a owl:Class ; PMID:12522801, PMID:17710870, PMID:474620 ; - oboInOwl:hasDbXref UMLS:C1860157 ; oboInOwl:hasExactSynonym "elejalde disease", "neuroectodermal melanolysosomal disease" ; + skos:exactMatch UMLS:C1860157 ; biolink:category biolink:Disease . OMIM:256720 a owl:Class ; rdfs:label "neurologic disease, infantile multisystem, with osseous fragility" ; - oboInOwl:hasDbXref UMLS:C1850465 ; - oboInOwl:hasExactSynonym "neurologic disease, infantile multisystem, with osseous fragility" . + oboInOwl:hasExactSynonym "neurologic disease, infantile multisystem, with osseous fragility" ; + skos:exactMatch UMLS:C1850465 . OMIM:256851 a owl:Class ; IAO:0100001 OMIM:256850 ; @@ -90325,29 +92435,29 @@ OMIM:256855 a owl:Class ; rdfs:label "neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive" ; IAO:0000142 PMID:2779605, PMID:8180900 ; - oboInOwl:hasDbXref UMLS:C1850385 ; oboInOwl:hasExactSynonym "charcot-marie-tooth disease with excessive myelin folding, autosomal recessive", "hmsn with excessive myelin outfolding, autosomal recessive", "neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive" ; + skos:exactMatch UMLS:C1850385 ; biolink:category biolink:Disease . OMIM:256860 a owl:Class ; rdfs:label "neuropathy, hereditary sensory, atypical" ; IAO:0000142 PMID:191348, PMID:206509 ; - oboInOwl:hasDbXref UMLS:C1850384 ; - oboInOwl:hasExactSynonym "neuropathy, hereditary sensory, atypical" . + oboInOwl:hasExactSynonym "neuropathy, hereditary sensory, atypical" ; + skos:exactMatch UMLS:C1850384 . OMIM:256870 a owl:Class ; rdfs:label "neuropathy, painful" ; IAO:0000142 PMID:897927 ; - oboInOwl:hasDbXref UMLS:C1850383 ; - oboInOwl:hasExactSynonym "neuropathy, painful" . + oboInOwl:hasExactSynonym "neuropathy, painful" ; + skos:exactMatch UMLS:C1850383 . OMIM:257000 a owl:Class ; rdfs:label "neurovisceral storage disease with curvilinear bodies" ; - oboInOwl:hasDbXref UMLS:C1850382 ; - oboInOwl:hasExactSynonym "neurovisceral storage disease with curvilinear bodies" . + oboInOwl:hasExactSynonym "neurovisceral storage disease with curvilinear bodies" ; + skos:exactMatch UMLS:C1850382 . OMIM:257050 a owl:Class ; IAO:0100001 OMIM:257220 ; @@ -90356,8 +92466,8 @@ OMIM:257050 a owl:Class ; OMIM:257100 a owl:Class ; rdfs:label "neutropenia, lethal congenital, with eosinophilia" ; IAO:0000142 PMID:13683481 ; - oboInOwl:hasDbXref UMLS:C1850381 ; - oboInOwl:hasExactSynonym "neutropenia, lethal congenital, with eosinophilia" . + oboInOwl:hasExactSynonym "neutropenia, lethal congenital, with eosinophilia" ; + skos:exactMatch UMLS:C1850381 . OMIM:257150 a owl:Class ; rdfs:label "neutrophil actin dysfunction" ; @@ -90367,9 +92477,9 @@ OMIM:257150 a owl:Class ; PMID:4609060, PMID:8274738, PMID:9616178 ; - oboInOwl:hasDbXref UMLS:C1850380 ; oboInOwl:hasExactSynonym "NAD", "neutrophil actin dysfunction" ; + skos:exactMatch UMLS:C1850380 ; biolink:category biolink:Disease . OMIM:257200 a owl:Class ; @@ -90406,14 +92516,14 @@ OMIM:257200 a owl:Class ; PMID:7600574, PMID:7670466, PMID:8664904 ; - oboInOwl:hasDbXref UMLS:C0268242, - UMLS:C2675646 ; oboInOwl:hasExactSynonym "acid sphingomyelinase deficiency, neurovisceral iia", "asmd, neurovisceral iia", "niemann-pick disease, iia a", "niemann-pick disease, intermediate, protracted neurovisceral", "sphingomyelin lipidosis", "sphingomyelinase deficiency" ; + skos:exactMatch UMLS:C0268242, + UMLS:C2675646 ; biolink:category biolink:Disease . OMIM:257250 a owl:Class ; @@ -90444,12 +92554,12 @@ OMIM:257300 a owl:Class ; PMID:9450856, PMID:9677059, PMID:9916837 ; - oboInOwl:hasDbXref UMLS:C1850343, - ORPHA:1052 ; oboInOwl:hasExactSynonym "MVA1", "mosaic variegated aneuploidy syndrome 1", "mva syndrome" ; rdfs:subClassOf OMIMPS:257300 ; + skos:exactMatch UMLS:C1850343, + ORPHA:1052 ; biolink:category biolink:Disease . OMIM:257320 a owl:Class ; @@ -90461,12 +92571,12 @@ OMIM:257320 a owl:Class ; PMID:6476009, PMID:7682675, PMID:8368261 ; - oboInOwl:hasDbXref UMLS:C0796089 ; oboInOwl:hasExactSynonym "LIS2", "lissencephaly 2", "lissencephaly syndrome, norman-roberts iia", "norman-roberts syndrome" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C0796089 ; biolink:category biolink:Disease . OMIM:257350 a owl:Class ; @@ -90477,28 +92587,28 @@ OMIM:257350 a owl:Class ; PMID:6209701, PMID:6888468, PMID:9415686 ; - oboInOwl:hasDbXref UMLS:C0948242 ; oboInOwl:hasExactSynonym "cystic hygroma, fetal", - "nuchal bleb, familial" . + "nuchal bleb, familial" ; + skos:exactMatch UMLS:C0948242 . OMIM:257400 a owl:Class ; rdfs:label "nystagmus, congenital, autosomal recessive" ; - oboInOwl:hasDbXref UMLS:C3151571 ; oboInOwl:hasExactSynonym "nystagmus, congenital, autosomal recessive" ; - rdfs:subClassOf OMIMPS:310700 . + rdfs:subClassOf OMIMPS:310700 ; + skos:exactMatch UMLS:C3151571 . OMIM:257500 a owl:Class ; rdfs:label "obesity-hypoventilation syndrome" ; IAO:0000142 PMID:14178614 ; - oboInOwl:hasDbXref UMLS:C0031880 ; oboInOwl:hasExactSynonym "obesity-hypoventilation syndrome", - "pickwickian syndrome" . + "pickwickian syndrome" ; + skos:exactMatch UMLS:C0031880 . OMIM:257600 a owl:Class ; rdfs:label "ocular myopathy with curare sensitivity" ; IAO:0000142 PMID:5409602 ; - oboInOwl:hasDbXref UMLS:C1850341 ; oboInOwl:hasExactSynonym "ocular myopathy with curare sensitivity" ; + skos:exactMatch UMLS:C1850341 ; biolink:category biolink:Disease . OMIM:257790 a owl:Class ; @@ -90506,8 +92616,8 @@ OMIM:257790 a owl:Class ; IAO:0000142 PMID:3104590, PMID:4959856, PMID:6663291 ; - oboInOwl:hasDbXref UMLS:C2931646 ; - oboInOwl:hasExactSynonym "oculocerebral hypopigmentation syndrome of preus" . + oboInOwl:hasExactSynonym "oculocerebral hypopigmentation syndrome of preus" ; + skos:exactMatch UMLS:C2931646 . OMIM:257800 a owl:Class ; rdfs:label "oculocerebral syndrome with hypopigmentation" ; @@ -90520,10 +92630,10 @@ OMIM:257800 a owl:Class ; PMID:6663291, PMID:8322826, PMID:9112000 ; - oboInOwl:hasDbXref UMLS:C0268496 ; oboInOwl:hasExactSynonym "cross syndrome", "kramer syndrome", "oculocerebral syndrome with hypopigmentation" ; + skos:exactMatch UMLS:C0268496 ; biolink:category biolink:Disease . OMIM:257850 a owl:Class ; @@ -90535,11 +92645,11 @@ OMIM:257850 a owl:Class ; PMID:226298, PMID:3085500, PMID:4959813 ; - oboInOwl:hasDbXref UMLS:C2749477 ; oboInOwl:hasExactSynonym "oculodentodigital dysplasia, autosomal recessive", "oculodentoosseous dysplasia, autosomal recessive", "oddd, autosomal recessive", "odod, autosomal recessive" ; + skos:exactMatch UMLS:C2749477 ; biolink:category biolink:Disease . OMIM:257910 a owl:Class ; @@ -90548,10 +92658,10 @@ OMIM:257910 a owl:Class ; PMID:11241490, PMID:15368502, PMID:3995792 ; - oboInOwl:hasDbXref UMLS:C1850338 ; oboInOwl:hasExactSynonym "oculopalatocerebral dwarfism", "oculopalatocerebral syndrome", "opc dwarfism" ; + skos:exactMatch UMLS:C1850338 ; biolink:category biolink:Disease . OMIM:257950 a owl:Class ; @@ -90561,16 +92671,16 @@ OMIM:257950 a owl:Class ; OMIM:257960 a owl:Class ; rdfs:label "oculotrichodysplasia" ; IAO:0000142 PMID:3398012 ; - oboInOwl:hasDbXref UMLS:C1850332 ; oboInOwl:hasExactSynonym "OTD", - "oculotrichodysplasia" . + "oculotrichodysplasia" ; + skos:exactMatch UMLS:C1850332 . OMIM:257970 a owl:Class ; rdfs:label "oculorenocerebellar syndrome" ; IAO:0000142 PMID:7091183 ; - oboInOwl:hasDbXref UMLS:C1850331 ; oboInOwl:hasExactSynonym "oculorenocerebellar syndrome", "orc syndrome" ; + skos:exactMatch UMLS:C1850331 ; biolink:category biolink:Disease . OMIM:257980 a owl:Class ; @@ -90583,12 +92693,12 @@ OMIM:257980 a owl:Class ; PMID:6837628, PMID:8555039, PMID:8588594 ; - oboInOwl:hasDbXref UMLS:C0796093, - ORPHA:2721 ; oboInOwl:hasExactSynonym "OODD", "ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail iia", "odontoonychodermal dysplasia" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C0796093, + ORPHA:2721 ; biolink:category biolink:Disease . OMIM:258040 a owl:Class ; @@ -90605,11 +92715,11 @@ OMIM:258040 a owl:Class ; PMID:27013921, PMID:32850778, PMID:501497 ; - oboInOwl:hasDbXref UMLS:C1850321, - ORPHA:322, - ORPHA:93929 ; oboInOwl:hasExactSynonym "oeis complex", - "omphalocele-exstrophy-imperforate anus-spinal defects" . + "omphalocele-exstrophy-imperforate anus-spinal defects" ; + skos:exactMatch UMLS:C1850321, + ORPHA:322, + ORPHA:93929 . OMIM:258100 a owl:Class ; rdfs:label "oguchi disease 1" ; @@ -90623,10 +92733,10 @@ OMIM:258100 a owl:Class ; PMID:7670478, PMID:9452120, PMID:9565049 ; - oboInOwl:hasDbXref UMLS:C4551824 ; oboInOwl:hasExactSynonym "night blindness, congenital stationary, oguchi iia 1", "oguchi disease 1" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C4551824 ; biolink:category biolink:Disease . OMIM:258120 a owl:Class ; @@ -90636,24 +92746,24 @@ OMIM:258120 a owl:Class ; OMIM:258200 a owl:Class ; rdfs:label "Oliver syndrome" ; IAO:0000142 PMID:16278897 ; - oboInOwl:hasDbXref UMLS:C1850320 ; oboInOwl:hasExactSynonym "Oliver syndrome", - "postaxial polydactyly and mental retardation" . + "postaxial polydactyly and mental retardation" ; + skos:exactMatch UMLS:C1850320 . OMIM:258300 a owl:Class ; rdfs:label "cerebellar ataxia and albinism" ; IAO:0000142 PMID:4838888 ; - oboInOwl:hasDbXref UMLS:C1850319 ; oboInOwl:hasExactSynonym "cerebellar ataxia and albinism", "olivopontocerebellar ataxia ii, fickler-winkler iia", - "opca ii, fickler-winkler iia" . + "opca ii, fickler-winkler iia" ; + skos:exactMatch UMLS:C1850319 . OMIM:258320 a owl:Class ; rdfs:label "omphalocele-cleft palate syndrome, lethal" ; IAO:0000142 PMID:6873946 ; - oboInOwl:hasDbXref UMLS:C1850317 ; oboInOwl:hasExactSynonym "cleft palate-omphalocele syndrome, lethal", - "omphalocele-cleft palate syndrome, lethal" . + "omphalocele-cleft palate syndrome, lethal" ; + skos:exactMatch UMLS:C1850317 . OMIM:258360 a owl:Class ; rdfs:label "onychotrichodysplasia and neutropenia" ; @@ -90661,22 +92771,22 @@ OMIM:258360 a owl:Class ; PMID:3621639, PMID:761414, PMID:8062439 ; - oboInOwl:hasDbXref UMLS:C1850316 ; oboInOwl:hasExactSynonym "onychotrichodysplasia and neutropenia" ; + skos:exactMatch UMLS:C1850316 ; biolink:category biolink:Disease . OMIM:258400 a owl:Class ; rdfs:label "ophthalmoplegia totalis with ptosis and miosis" ; - oboInOwl:hasDbXref UMLS:C1850314 ; oboInOwl:hasExactSynonym "ophthalmoplegia totalis with ptosis and miosis" ; + skos:exactMatch UMLS:C1850314 ; biolink:category biolink:Disease . OMIM:258470 a owl:Class ; rdfs:label "ophthalmoplegic neuromuscular disorder with abnormal mitochondria" ; IAO:0000142 PMID:4154795, PMID:7247764 ; - oboInOwl:hasDbXref UMLS:C1850302 ; - oboInOwl:hasExactSynonym "ophthalmoplegic neuromuscular disorder with abnormal mitochondria" . + oboInOwl:hasExactSynonym "ophthalmoplegic neuromuscular disorder with abnormal mitochondria" ; + skos:exactMatch UMLS:C1850302 . OMIM:258501 a owl:Class ; rdfs:label "3-methylglutaconic aciduria, iia 3" ; @@ -90692,8 +92802,6 @@ OMIM:258501 a owl:Class ; PMID:7510656, PMID:7538304, PMID:9097959 ; - oboInOwl:hasDbXref UMLS:C0574084, - ORPHA:67047 ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria, iia 3", "MGCA3", "costeff syndrome", @@ -90704,6 +92812,8 @@ OMIM:258501 a owl:Class ; "optic atrophy plus syndrome", "optic atrophy, infantile, with chorea and spastic paraplegia" ; rdfs:subClassOf OMIMPS:250950 ; + skos:exactMatch UMLS:C0574084, + ORPHA:67047 ; biolink:category biolink:Disease . OMIM:258650 a owl:Class ; @@ -90711,40 +92821,40 @@ OMIM:258650 a owl:Class ; IAO:0000142 PMID:4183781, PMID:5417642, PMID:6069085 ; - oboInOwl:hasDbXref UMLS:C1839566 ; - oboInOwl:hasExactSynonym "optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive" . + oboInOwl:hasExactSynonym "optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive" ; + skos:exactMatch UMLS:C1839566 . OMIM:258700 a owl:Class ; rdfs:label "opticocochleodentate degeneration" ; IAO:0000142 PMID:13447865, PMID:5886196 ; - oboInOwl:hasDbXref UMLS:C0520711 ; oboInOwl:hasExactSynonym "opticocochleodentate degeneration" ; + skos:exactMatch UMLS:C0520711 ; biolink:category biolink:Disease . OMIM:258800 a owl:Class ; rdfs:label "oral sensibility, disturbance of" ; - oboInOwl:hasDbXref UMLS:C1850269 ; - oboInOwl:hasExactSynonym "oral sensibility, disturbance of" . + oboInOwl:hasExactSynonym "oral sensibility, disturbance of" ; + skos:exactMatch UMLS:C1850269 . OMIM:258840 a owl:Class ; rdfs:label "oral and digital anomalies with ichthyosis" ; IAO:0000142 PMID:2732996 ; - oboInOwl:hasDbXref UMLS:C1850268 ; - oboInOwl:hasExactSynonym "oral and digital anomalies with ichthyosis" . + oboInOwl:hasExactSynonym "oral and digital anomalies with ichthyosis" ; + skos:exactMatch UMLS:C1850268 . OMIM:258850 a owl:Class ; rdfs:label "orofaciodigital syndrome 3" ; IAO:0000142 PMID:2309783, PMID:5004413, PMID:8230165 ; - oboInOwl:hasDbXref UMLS:C0406726 ; oboInOwl:hasExactSynonym "OFD3", "ofds 3", "oral-facial-digital syndrome, iia 3", "orofaciodigital syndrome 3", "sugarman syndrome" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C0406726 ; biolink:category biolink:Disease . OMIM:258865 a owl:Class ; @@ -90755,8 +92865,6 @@ OMIM:258865 a owl:Class ; PMID:8074150, PMID:8669453, PMID:9598735 ; - oboInOwl:hasDbXref UMLS:C0796102, - ORPHA:141007 ; oboInOwl:hasExactSynonym "OFD9", "ofds 9", "oral-facial-digital syndrome with retinal abnormalities", @@ -90764,6 +92872,8 @@ OMIM:258865 a owl:Class ; "orofaciodigital syndrome 9", "orofaciodigital syndrome with retinal abnormalities" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C0796102, + ORPHA:141007 ; biolink:category biolink:Disease . OMIM:258920 a owl:Class ; @@ -90776,24 +92886,24 @@ OMIM:259200 a owl:Class ; PMID:1434882, PMID:14608655, PMID:19571101 ; - oboInOwl:hasDbXref UMLS:C3151572 ; oboInOwl:hasExactSynonym "blount disease, adolescent", "osteochondrosis deformans tibiae, adolescent", - "tibia vara, adolescent" . + "tibia vara, adolescent" ; + skos:exactMatch UMLS:C3151572 . OMIM:259250 a owl:Class ; rdfs:label "osteodysplasia, familial, anderson iia" ; IAO:0000142 PMID:4641184, PMID:5067603 ; - oboInOwl:hasDbXref UMLS:C1850186 ; oboInOwl:hasExactSynonym "osteodysplasia, familial, anderson iia" ; + skos:exactMatch UMLS:C1850186 ; biolink:category biolink:Disease . OMIM:259270 a owl:Class ; rdfs:label "osteodysplasty, precocious, of danks, mayne, and kozlowski" ; IAO:0000142 PMID:11977184 ; - oboInOwl:hasDbXref UMLS:C1850185 ; - oboInOwl:hasExactSynonym "osteodysplasty, precocious, of danks, mayne, and kozlowski" . + oboInOwl:hasExactSynonym "osteodysplasty, precocious, of danks, mayne, and kozlowski" ; + skos:exactMatch UMLS:C1850185 . OMIM:259400 a owl:Class ; IAO:0100001 OMIM:166210 ; @@ -90801,8 +92911,8 @@ OMIM:259400 a owl:Class ; OMIM:259410 a owl:Class ; rdfs:label "osteogenesis imperfecta congenita, microcephaly, and cataracts" ; - oboInOwl:hasDbXref UMLS:C1850184 ; - oboInOwl:hasExactSynonym "osteogenesis imperfecta congenita, microcephaly, and cataracts" . + oboInOwl:hasExactSynonym "osteogenesis imperfecta congenita, microcephaly, and cataracts" ; + skos:exactMatch UMLS:C1850184 . OMIM:259420 a owl:Class ; rdfs:label "osteogenesis imperfecta, iia 3" ; @@ -90834,36 +92944,36 @@ OMIM:259420 a owl:Class ; PMID:86915, PMID:8728690, PMID:9099837 ; - oboInOwl:hasDbXref UMLS:C0268362 ; oboInOwl:hasExactSynonym "OI3", "oi, iia 3", "osteogenesis imperfecta, iia 3", "osteogenesis imperfecta, progressively deforming, with normal sclerae" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C0268362 ; biolink:category biolink:Disease . OMIM:259550 a owl:Class ; rdfs:label "osteoid osteoma" ; - oboInOwl:hasDbXref UMLS:C0029441 ; - oboInOwl:hasExactSynonym "osteoid osteoma" . + oboInOwl:hasExactSynonym "osteoid osteoma" ; + skos:exactMatch UMLS:C0029441 . OMIM:259610 a owl:Class ; rdfs:label "osteolysis syndrome, recessive" ; IAO:0000142 PMID:3789013 ; - oboInOwl:hasDbXref UMLS:C1850143 ; oboInOwl:hasExactSynonym "osteolysis syndrome, recessive", - "osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance" . + "osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance" ; + skos:exactMatch UMLS:C1850143 . OMIM:259650 a owl:Class ; rdfs:label "osteoma of middle ear" ; IAO:0000142 PMID:14205962 ; - oboInOwl:hasDbXref UMLS:C1850142 ; - oboInOwl:hasExactSynonym "osteoma of middle ear" . + oboInOwl:hasExactSynonym "osteoma of middle ear" ; + skos:exactMatch UMLS:C1850142 . OMIM:259660 a owl:Class ; - rdfs:label "osteomalacia, sclerosing, with cerebral calcification" ; - oboInOwl:hasDbXref UMLS:C1850141 ; - oboInOwl:hasExactSynonym "osteomalacia, sclerosing, with cerebral calcification" . + IAO:0100001 OMIM:259775 ; + owl:deprecated true ; + skos:exactMatch UMLS:C1850141 . OMIM:259680 a owl:Class ; rdfs:label "chronic recurrent multifocal osteomyelitis" ; @@ -90872,17 +92982,17 @@ OMIM:259680 a owl:Class ; PMID:1686018, PMID:28301468, PMID:4403064 ; - oboInOwl:hasDbXref UMLS:C0410422, - ORPHA:324964 ; oboInOwl:hasExactSynonym "CRMO", "chronic recurrent multifocal osteomyelitis", - "osteomyelitis, chronic multifocal" . + "osteomyelitis, chronic multifocal" ; + skos:exactMatch UMLS:C0410422, + ORPHA:324964 . OMIM:259690 a owl:Class ; rdfs:label "osteopenia and sparse hair" ; IAO:0000142 PMID:1415349 ; - oboInOwl:hasDbXref UMLS:C1850140 ; - oboInOwl:hasExactSynonym "osteopenia and sparse hair" . + oboInOwl:hasExactSynonym "osteopenia and sparse hair" ; + skos:exactMatch UMLS:C1850140 . OMIM:259750 a owl:Class ; rdfs:label "osteoporosis, juvenile" ; @@ -90892,9 +93002,9 @@ OMIM:259750 a owl:Class ; PMID:314235, PMID:3177335, PMID:6896958 ; - oboInOwl:hasDbXref UMLS:C0264080 ; oboInOwl:hasExactSynonym "idiopathic juvenile osteoporosis", - "osteoporosis, juvenile" . + "osteoporosis, juvenile" ; + skos:exactMatch UMLS:C0264080 . OMIM:259770 a owl:Class ; rdfs:label "osteoporosis-pseudoglioma syndrome" ; @@ -90913,11 +93023,11 @@ OMIM:259770 a owl:Class ; PMID:4028503, PMID:8418655, PMID:8659519 ; - oboInOwl:hasDbXref UMLS:C0432252 ; oboInOwl:hasExactSynonym "OPPG", "ops", "osteogenesis imperfecta, ocular form", "osteoporosis-pseudoglioma syndrome" ; + skos:exactMatch UMLS:C0432252 ; biolink:category biolink:Disease . OMIM:259780 a owl:Class ; @@ -90925,36 +93035,36 @@ OMIM:259780 a owl:Class ; IAO:0000142 PMID:15216555, PMID:7128639, PMID:9643295 ; - oboInOwl:hasDbXref UMLS:C1850105 ; oboInOwl:hasExactSynonym "otoonychoperoneal syndrome" ; + skos:exactMatch UMLS:C1850105 ; biolink:category biolink:Disease . OMIM:260100 a owl:Class ; rdfs:label "pa polymorphism of alpha-2-globulin" ; IAO:0000142 PMID:4165844, PMID:4632378 ; - oboInOwl:hasDbXref UMLS:C1850104 ; oboInOwl:hasExactSynonym "alpha-2-globulin polymorphism pa", - "pa polymorphism of alpha-2-globulin" . + "pa polymorphism of alpha-2-globulin" ; + skos:exactMatch UMLS:C1850104 . OMIM:260130 a owl:Class ; rdfs:label "pachyonychia congenita, autosomal recessive" ; IAO:0000142 PMID:3997341, PMID:856060 ; - oboInOwl:hasDbXref UMLS:C1850103 ; oboInOwl:hasExactSynonym "pachyonychia congenita, autosomal recessive" ; - rdfs:subClassOf OMIMPS:167200 . + rdfs:subClassOf OMIMPS:167200 ; + skos:exactMatch UMLS:C1850103 . OMIM:260150 a owl:Class ; rdfs:label "palant cleft palate syndrome" ; IAO:0000142 PMID:5547829 ; - oboInOwl:hasDbXref UMLS:C1850102 ; - oboInOwl:hasExactSynonym "palant cleft palate syndrome" . + oboInOwl:hasExactSynonym "palant cleft palate syndrome" ; + skos:exactMatch UMLS:C1850102 . OMIM:260200 a owl:Class ; rdfs:label "pallidal degeneration, progressive, with retinitis pigmentosa" ; - oboInOwl:hasDbXref UMLS:C1850101 ; - oboInOwl:hasExactSynonym "pallidal degeneration, progressive, with retinitis pigmentosa" . + oboInOwl:hasExactSynonym "pallidal degeneration, progressive, with retinitis pigmentosa" ; + skos:exactMatch UMLS:C1850101 . OMIM:260350 a owl:Class ; rdfs:label "pancreatic cancer" ; @@ -91006,11 +93116,11 @@ OMIM:260350 a owl:Class ; PMID:7874567, PMID:8422609, PMID:9091646 ; - oboInOwl:hasDbXref UMLS:C0235974, - ORPHA:1333 ; oboInOwl:hasExactSynonym "pancreatic acinar carcinoma", "pancreatic cancer", "pancreatic carcinoma" ; + skos:exactMatch UMLS:C0235974, + ORPHA:1333 ; biolink:category biolink:Disease . OMIM:260370 a owl:Class ; @@ -91029,12 +93139,12 @@ OMIM:260370 a owl:Class ; PMID:8506821, PMID:8988180, PMID:9326926 ; - oboInOwl:hasDbXref UMLS:C3891828 ; oboInOwl:hasExactSynonym "PAGEN1", "pagen", "pancreatic agenesis 1", "pancreatic hypoplasia, congenital" ; rdfs:subClassOf OMIMPS:260370 ; + skos:exactMatch UMLS:C3891828 ; biolink:category biolink:Disease . OMIM:260400 a owl:Class ; @@ -91087,9 +93197,6 @@ OMIM:260400 a owl:Class ; PMID:8942739, PMID:9359520, PMID:999326 ; - oboInOwl:hasDbXref UMLS:C0272170, - UMLS:C4692625, - ORPHA:811 ; oboInOwl:hasExactSynonym "SDS1", "lipomatosis of pancreas, congenital", "pancreatic insufficiency and bone marrow dysfunction", @@ -91097,6 +93204,9 @@ OMIM:260400 a owl:Class ; "shwachman-diamond syndrome", "shwachman-diamond syndrome 1" ; rdfs:subClassOf OMIMPS:260400 ; + skos:exactMatch UMLS:C0272170, + UMLS:C4692625, + ORPHA:811 ; biolink:category biolink:Disease . OMIM:260450 a owl:Class ; @@ -91108,18 +93218,18 @@ OMIM:260470 a owl:Class ; IAO:0000142 PMID:12020266, PMID:14872030, PMID:6178588 ; - oboInOwl:hasDbXref UMLS:C0038522 ; oboInOwl:hasExactSynonym "SSPE", "panencephalitis, subacute sclerosing", - "subacute sclerosing panencephalitis" . + "subacute sclerosing panencephalitis" ; + skos:exactMatch UMLS:C0038522 . OMIM:260480 a owl:Class ; rdfs:label "pancreatitis, sclerosing cholangitis, and sicca complex" ; IAO:0000142 PMID:2348837, PMID:47019, PMID:6731702 ; - oboInOwl:hasDbXref UMLS:C1850080 ; - oboInOwl:hasExactSynonym "pancreatitis, sclerosing cholangitis, and sicca complex" . + oboInOwl:hasExactSynonym "pancreatitis, sclerosing cholangitis, and sicca complex" ; + skos:exactMatch UMLS:C1850080 . OMIM:260490 a owl:Class ; IAO:0100001 OMIM:174800 ; @@ -91134,65 +93244,65 @@ OMIM:260500 a owl:Class ; PMID:23172371, PMID:2732756, PMID:5842429 ; - oboInOwl:hasDbXref UMLS:C0205770, - UMLS:C0431109 ; oboInOwl:hasExactSynonym "CPP", "choroid plexus carcinoma", "choroid plexus papilloma", "papilloma of choroid plexus" ; + skos:exactMatch UMLS:C0205770, + UMLS:C0431109 ; biolink:category biolink:Disease . OMIM:260530 a owl:Class ; rdfs:label "parana hard-skin syndrome" ; IAO:0000142 PMID:4129896 ; - oboInOwl:hasDbXref UMLS:C1850079 ; - oboInOwl:hasExactSynonym "parana hard-skin syndrome" . + oboInOwl:hasExactSynonym "parana hard-skin syndrome" ; + skos:exactMatch UMLS:C1850079 . OMIM:260540 a owl:Class ; rdfs:label "parkinson-dementia syndrome" ; IAO:0000142 PMID:11220749, PMID:14991829, PMID:6685236 ; - oboInOwl:hasDbXref UMLS:C1850077 ; oboInOwl:hasExactSynonym "parkinson-dementia syndrome", "steele-richardson-olszewski syndrome, atypical", "supranuclear palsy, progressive, 1, atypical" ; + skos:exactMatch UMLS:C1850077 ; biolink:category biolink:Disease . OMIM:260555 a owl:Class ; rdfs:label "partington-anderson syndrome" ; IAO:0000142 PMID:7509568 ; - oboInOwl:hasDbXref UMLS:C1850075 ; - oboInOwl:hasExactSynonym "partington-anderson syndrome" . + oboInOwl:hasExactSynonym "partington-anderson syndrome" ; + skos:exactMatch UMLS:C1850075 . OMIM:260570 a owl:Class ; rdfs:label "pelger-huet-like anomaly and episodic fever with abdominal pain" ; IAO:0000142 PMID:4831644 ; - oboInOwl:hasDbXref UMLS:C1850054 ; - oboInOwl:hasExactSynonym "pelger-huet-like anomaly and episodic fever with abdominal pain" . + oboInOwl:hasExactSynonym "pelger-huet-like anomaly and episodic fever with abdominal pain" ; + skos:exactMatch UMLS:C1850054 . OMIM:260650 a owl:Class ; rdfs:label "pellagra-like syndrome" ; IAO:0000142 PMID:4058988, PMID:6451201 ; - oboInOwl:hasDbXref UMLS:C1850052 ; - oboInOwl:hasExactSynonym "pellagra-like syndrome" . + oboInOwl:hasExactSynonym "pellagra-like syndrome" ; + skos:exactMatch UMLS:C1850052 . OMIM:260900 a owl:Class ; rdfs:label "pericardial effusion, chronic" ; IAO:0000142 PMID:13627000, PMID:20769656, PMID:7415997 ; - oboInOwl:hasDbXref UMLS:C1850039 ; oboInOwl:hasExactSynonym "cholesterol pericarditis", - "pericardial effusion, chronic" . + "pericardial effusion, chronic" ; + skos:exactMatch UMLS:C1850039 . OMIM:260910 a owl:Class ; rdfs:label "perifolliculitis capitis abscedens et suffodiens, familial" ; IAO:0000142 PMID:2229506 ; - oboInOwl:hasDbXref UMLS:C0263506 ; oboInOwl:hasExactSynonym "dissecting cellulitis of the scalp", - "perifolliculitis capitis abscedens et suffodiens, familial" . + "perifolliculitis capitis abscedens et suffodiens, familial" ; + skos:exactMatch UMLS:C0263506 . OMIM:260920 a owl:Class ; rdfs:label "hyper-igd syndrome" ; @@ -91210,26 +93320,26 @@ OMIM:260920 a owl:Class ; PMID:7989036, PMID:8190036, PMID:8973873 ; - oboInOwl:hasDbXref UMLS:C0398691 ; oboInOwl:hasExactSynonym "HIDS", "hyper-igd syndrome", "hyperimmunoglobulinemia d and periodic fever syndrome", "periodic fever, dutch iia" ; + skos:exactMatch UMLS:C0398691 ; biolink:category biolink:Disease . OMIM:260950 a owl:Class ; rdfs:label "periodontitis, chronic" ; IAO:0000142 PMID:11128917, PMID:8106947 ; - oboInOwl:hasDbXref UMLS:C0266929 ; oboInOwl:hasExactSynonym "periodontitis, adult", - "periodontitis, chronic" . + "periodontitis, chronic" ; + skos:exactMatch UMLS:C0266929 . OMIM:260970 a owl:Class ; rdfs:label "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain" ; IAO:0000142 PMID:6252824 ; - oboInOwl:hasDbXref UMLS:C1850022 ; - oboInOwl:hasExactSynonym "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain" . + oboInOwl:hasExactSynonym "peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain" ; + skos:exactMatch UMLS:C1850022 . OMIM:260980 a owl:Class ; IAO:0100001 OMIM:300388 ; @@ -91267,9 +93377,6 @@ OMIM:261100 a owl:Class ; PMID:9001810, PMID:9572993, PMID:9620017 ; - oboInOwl:hasDbXref UMLS:C4016819, - UMLS:C4551825, - ORPHA:35858 ; oboInOwl:hasExactSynonym "IGS1", "enterocyte cobalamin malabsorption", "enterocyte intrinsic factor receptor, defect of", @@ -91278,13 +93385,16 @@ OMIM:261100 a owl:Class ; "megaloblastic anemia, finnish iia", "pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria" ; rdfs:subClassOf OMIMPS:261100 ; + skos:exactMatch UMLS:C4016819, + UMLS:C4551825, + ORPHA:35858 ; biolink:category biolink:Disease . OMIM:261400 a owl:Class ; rdfs:label "peroneus tertius muscle, absence of" ; IAO:0000142 PMID:14942709 ; - oboInOwl:hasDbXref UMLS:C1850001 ; - oboInOwl:hasExactSynonym "peroneus tertius muscle, absence of" . + oboInOwl:hasExactSynonym "peroneus tertius muscle, absence of" ; + skos:exactMatch UMLS:C1850001 . OMIM:261510 a owl:Class ; IAO:0100001 OMIM:261515 ; @@ -91293,22 +93403,22 @@ OMIM:261510 a owl:Class ; OMIM:261560 a owl:Class ; rdfs:label "pfeiffer-palm-teller syndrome" ; IAO:0000142 PMID:144791 ; - oboInOwl:hasDbXref UMLS:C1849929 ; oboInOwl:hasExactSynonym "pfeiffer-palm-teller syndrome", "ppt syndrome", - "short stature, unique facies, enamel hypoplasia, progressive joint stiffness, and high-pitched voice" . + "short stature, unique facies, enamel hypoplasia, progressive joint stiffness, and high-pitched voice" ; + skos:exactMatch UMLS:C1849929 . OMIM:261575 a owl:Class ; rdfs:label "phaver syndrome" ; IAO:0000142 PMID:8279476 ; - oboInOwl:hasDbXref UMLS:C1849928 ; - oboInOwl:hasExactSynonym "phaver syndrome" . + oboInOwl:hasExactSynonym "phaver syndrome" ; + skos:exactMatch UMLS:C1849928 . OMIM:261590 a owl:Class ; rdfs:label "phenformin 4-hydroxylation" ; IAO:0000142 PMID:4078865 ; - oboInOwl:hasDbXref UMLS:C1849927 ; - oboInOwl:hasExactSynonym "phenformin 4-hydroxylation" . + oboInOwl:hasExactSynonym "phenformin 4-hydroxylation" ; + skos:exactMatch UMLS:C1849927 . OMIM:261660 a owl:Class ; owl:deprecated true . @@ -91322,20 +93432,20 @@ OMIM:261740 a owl:Class ; PMID:3918928, PMID:6424667, PMID:8236826 ; - oboInOwl:hasDbXref UMLS:C1849813 ; oboInOwl:hasExactSynonym "glycogen storage disease of heart", "glycogen storage disease of heart, lethal congenital", "phosphorylase kinase deficiency of heart" ; + skos:exactMatch UMLS:C1849813 ; biolink:category biolink:Disease . OMIM:261900 a owl:Class ; rdfs:label "pili torti, early-onset" ; IAO:0000142 PMID:10357309, PMID:9238334 ; - oboInOwl:hasDbXref UMLS:C0263491 ; oboInOwl:hasExactSynonym "pili torti, early-onset", "pili torti, ronchese iia", "twisted hair" ; + skos:exactMatch UMLS:C0263491 ; biolink:category biolink:Disease . OMIM:262000 a owl:Class ; @@ -91349,19 +93459,19 @@ OMIM:262000 a owl:Class ; PMID:9545407, PMID:9777342, PMID:9925836 ; - oboInOwl:hasDbXref UMLS:C0266006 ; oboInOwl:hasExactSynonym "BJS", "bjornstad syndrome", "pili torti and nerve deafness", "ptd" ; + skos:exactMatch UMLS:C0266006 ; biolink:category biolink:Disease . OMIM:262020 a owl:Class ; rdfs:label "pilodental dysplasia with refractive errors" ; IAO:0000142 PMID:4018802 ; - oboInOwl:hasDbXref UMLS:C1849805 ; oboInOwl:hasExactSynonym "pilodental dysplasia with refractive errors", - "trichodental dysplasia with hyperopia" . + "trichodental dysplasia with hyperopia" ; + skos:exactMatch UMLS:C1849805 . OMIM:262350 a owl:Class ; IAO:0100001 OMIM:194190 ; @@ -91413,7 +93523,6 @@ OMIM:262400 a owl:Class ; PMID:9398701, PMID:9435425, PMID:9661608 ; - oboInOwl:hasDbXref UMLS:C0342573 ; oboInOwl:hasExactSynonym "IGHD1A", "growth hormone deficiency, isolated, autosomal recessive", "ighd 1a", @@ -91423,6 +93532,7 @@ OMIM:262400 a owl:Class ; "primordial dwarfism", "sexual ateleiotic dwarfism" ; rdfs:subClassOf OMIMPS:262400 ; + skos:exactMatch UMLS:C0342573 ; biolink:category biolink:Disease . OMIM:262500 a owl:Class ; @@ -91477,18 +93587,18 @@ OMIM:262500 a owl:Class ; PMID:9341147, PMID:9360502, PMID:9371826 ; - oboInOwl:hasDbXref UMLS:C0271568 ; oboInOwl:hasExactSynonym "growth hormone insensitivity syndrome", "growth hormone receptor deficiency", "laron syndrome", "pituitary dwarfism 2" ; + skos:exactMatch UMLS:C0271568 ; biolink:category biolink:Disease . OMIM:262710 a owl:Class ; rdfs:label "pituitary dwarfism with large sella turcica" ; IAO:0000142 PMID:628396 ; - oboInOwl:hasDbXref UMLS:C0271575 ; - oboInOwl:hasExactSynonym "pituitary dwarfism with large sella turcica" . + oboInOwl:hasExactSynonym "pituitary dwarfism with large sella turcica" ; + skos:exactMatch UMLS:C0271575 . OMIM:262780 a owl:Class ; IAO:0100001 OMIM:107910 ; @@ -91496,28 +93606,28 @@ OMIM:262780 a owl:Class ; OMIM:262800 a owl:Class ; rdfs:label "plasma clot retraction factor, deficiency of" ; - oboInOwl:hasDbXref UMLS:C1849778 ; - oboInOwl:hasExactSynonym "plasma clot retraction factor, deficiency of" . + oboInOwl:hasExactSynonym "plasma clot retraction factor, deficiency of" ; + skos:exactMatch UMLS:C1849778 . OMIM:262875 a owl:Class ; rdfs:label "platelet prostacyclin receptor defect" ; IAO:0000142 PMID:1899965 ; - oboInOwl:hasDbXref UMLS:C1849774 ; oboInOwl:hasExactSynonym "platelet prostacyclin receptor defect", - "vienna-hietzing defect" . + "vienna-hietzing defect" ; + skos:exactMatch UMLS:C1849774 . OMIM:262900 a owl:Class ; rdfs:label "pleoconial myopathy with salt craving" ; IAO:0000142 PMID:4189219, PMID:5910899 ; - oboInOwl:hasDbXref UMLS:C1849773 ; - oboInOwl:hasExactSynonym "pleoconial myopathy with salt craving" . + oboInOwl:hasExactSynonym "pleoconial myopathy with salt craving" ; + skos:exactMatch UMLS:C1849773 . OMIM:263100 a owl:Class ; rdfs:label "polycystic kidney, cataract, and congenital blindness" ; IAO:0000142 PMID:20789756 ; - oboInOwl:hasDbXref UMLS:C1849771 ; - oboInOwl:hasExactSynonym "polycystic kidney, cataract, and congenital blindness" . + oboInOwl:hasExactSynonym "polycystic kidney, cataract, and congenital blindness" ; + skos:exactMatch UMLS:C1849771 . OMIM:263300 a owl:Class ; rdfs:label "polycythemia vera" ; @@ -91542,10 +93652,10 @@ OMIM:263300 a owl:Class ; PMID:7397379, PMID:959770, PMID:9669670 ; - oboInOwl:hasDbXref UMLS:C0032463 ; oboInOwl:hasExactSynonym "PV", "polycythemia rubra vera", "polycythemia vera" ; + skos:exactMatch UMLS:C0032463 ; biolink:category biolink:Disease . OMIM:263400 a owl:Class ; @@ -91576,13 +93686,13 @@ OMIM:263400 a owl:Class ; PMID:7378290, PMID:850518, PMID:9058738 ; - oboInOwl:hasDbXref UMLS:C1837915, - ORPHA:238557 ; oboInOwl:hasExactSynonym "ECYT2", "erythrocytosis, familial, 2", "polycythemia, chuvash iia", "polycythemia, vhl-dependent" ; rdfs:subClassOf OMIMPS:133100 ; + skos:exactMatch UMLS:C1837915, + ORPHA:238557 ; biolink:category biolink:Disease . OMIM:263510 a owl:Class ; @@ -91610,8 +93720,6 @@ OMIM:263520 a owl:Class ; PMID:8054971, PMID:8599362, PMID:8599363 ; - oboInOwl:hasDbXref UMLS:C0024507, - ORPHA:93269 ; oboInOwl:hasExactSynonym "SRTD6", "majewski syndrome", "polydactyly with neonatal chondrodystrophy, iia 2", @@ -91620,6 +93728,8 @@ OMIM:263520 a owl:Class ; "short-rib thoracic dysplasia 6 with or without polydactyly", "srps, iia 2" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C0024507, + ORPHA:93269 ; biolink:category biolink:Disease . OMIM:263530 a owl:Class ; @@ -91629,13 +93739,13 @@ OMIM:263530 a owl:Class ; OMIM:263540 a owl:Class ; rdfs:label "polydactyly, postaxial, with dental and vertebral anomalies" ; IAO:0000142 PMID:187745 ; - oboInOwl:hasDbXref UMLS:C1849732 ; - oboInOwl:hasExactSynonym "polydactyly, postaxial, with dental and vertebral anomalies" . + oboInOwl:hasExactSynonym "polydactyly, postaxial, with dental and vertebral anomalies" ; + skos:exactMatch UMLS:C1849732 . OMIM:263550 a owl:Class ; rdfs:label "polymyoclonus, infantile" ; - oboInOwl:hasDbXref UMLS:C1849731 ; - oboInOwl:hasExactSynonym "polymyoclonus, infantile" . + oboInOwl:hasExactSynonym "polymyoclonus, infantile" ; + skos:exactMatch UMLS:C1849731 . OMIM:263560 a owl:Class ; IAO:0100001 OMIM:214400 ; @@ -91644,16 +93754,16 @@ OMIM:263560 a owl:Class ; OMIM:263600 a owl:Class ; rdfs:label "polysaccharide, storage of unusual" ; IAO:0000142 PMID:13553600 ; - oboInOwl:hasDbXref UMLS:C1849721 ; - oboInOwl:hasExactSynonym "polysaccharide, storage of unusual" . + oboInOwl:hasExactSynonym "polysaccharide, storage of unusual" ; + skos:exactMatch UMLS:C1849721 . OMIM:263610 a owl:Class ; rdfs:label "polyhydramnios, chronic idiopathic" ; IAO:0000142 PMID:6255008, PMID:6296188 ; - oboInOwl:hasDbXref UMLS:C1849720 ; oboInOwl:hasExactSynonym "lactogen receptor defect of chorion", - "polyhydramnios, chronic idiopathic" . + "polyhydramnios, chronic idiopathic" ; + skos:exactMatch UMLS:C1849720 . OMIM:263620 a owl:Class ; IAO:0100001 OMIM:240300 ; @@ -91665,54 +93775,54 @@ OMIM:263630 a owl:Class ; PMID:19400539, PMID:6313864, PMID:9018424 ; - oboInOwl:hasDbXref UMLS:C1849719 ; oboInOwl:hasExactSynonym "bonneau syndrome", "polysyndactyly with cardiac malformation" ; + skos:exactMatch UMLS:C1849719 ; biolink:category biolink:Disease . OMIM:264010 a owl:Class ; rdfs:label "prader-willi habitus, osteopenia, and camptodactyly" ; IAO:0000142 PMID:3239569, PMID:758422 ; - oboInOwl:hasDbXref UMLS:C0796189 ; oboInOwl:hasExactSynonym "prader-willi habitus, osteopenia, and camptodactyly", - "urban-rogers-meyer syndrome" . + "urban-rogers-meyer syndrome" ; + skos:exactMatch UMLS:C0796189 . OMIM:264050 a owl:Class ; rdfs:label "prenatal bowing" ; IAO:0000142 PMID:3955869, PMID:4469975, PMID:7363911 ; - oboInOwl:hasDbXref UMLS:C1849701 ; - oboInOwl:hasExactSynonym "prenatal bowing" . + oboInOwl:hasExactSynonym "prenatal bowing" ; + skos:exactMatch UMLS:C1849701 . OMIM:264060 a owl:Class ; rdfs:label "prepapillary vascular loops" ; IAO:0000142 PMID:3789971, PMID:6675100 ; - oboInOwl:hasDbXref UMLS:C1828066 ; oboInOwl:hasExactSynonym "prepapillary vascular loops", - "preretinal vascular loops" . + "preretinal vascular loops" ; + skos:exactMatch UMLS:C1828066 . OMIM:264110 a owl:Class ; rdfs:label "prolactin deficiency, isolated" ; IAO:0000142 PMID:1426359, PMID:3098774 ; - oboInOwl:hasDbXref UMLS:C0271586 ; - oboInOwl:hasExactSynonym "prolactin deficiency, isolated" . + oboInOwl:hasExactSynonym "prolactin deficiency, isolated" ; + skos:exactMatch UMLS:C0271586 . OMIM:264120 a owl:Class ; rdfs:label "prolactin deficiency with obesity and enlarged testes" ; IAO:0000142 PMID:7436524 ; - oboInOwl:hasDbXref UMLS:C1849698 ; oboInOwl:hasExactSynonym "prl deficiency with obesity and enlarged testes", - "prolactin deficiency with obesity and enlarged testes" . + "prolactin deficiency with obesity and enlarged testes" ; + skos:exactMatch UMLS:C1849698 . OMIM:264140 a owl:Class ; rdfs:label "prune belly syndrome with pulmonic stenosis, mental retardation, and deafness" ; IAO:0000142 PMID:157583 ; - oboInOwl:hasDbXref UMLS:C0403551 ; - oboInOwl:hasExactSynonym "prune belly syndrome with pulmonic stenosis, mental retardation, and deafness" . + oboInOwl:hasExactSynonym "prune belly syndrome with pulmonic stenosis, mental retardation, and deafness" ; + skos:exactMatch UMLS:C0403551 . OMIM:264150 a owl:Class ; IAO:0100001 OMIM:177170 ; @@ -91732,10 +93842,10 @@ OMIM:264180 a owl:Class ; PMID:7923357, PMID:9217227, PMID:9415482 ; - oboInOwl:hasDbXref UMLS:C0432206, - ORPHA:85174 ; oboInOwl:hasExactSynonym "PDD", - "pseudodiastrophic dysplasia" . + "pseudodiastrophic dysplasia" ; + skos:exactMatch UMLS:C0432206, + ORPHA:85174 . OMIM:264200 a owl:Class ; IAO:0100001 OMIM:221900 ; @@ -91744,8 +93854,8 @@ OMIM:264200 a owl:Class ; OMIM:264270 a owl:Class ; rdfs:label "pseudohermaphroditism, female, with skeletal anomalies" ; IAO:0000142 PMID:5042791 ; - oboInOwl:hasDbXref UMLS:C1849696 ; oboInOwl:hasExactSynonym "pseudohermaphroditism, female, with skeletal anomalies" ; + skos:exactMatch UMLS:C1849696 ; biolink:category biolink:Disease . OMIM:264420 a owl:Class ; @@ -91755,10 +93865,10 @@ OMIM:264420 a owl:Class ; PMID:2387082, PMID:7148944, PMID:8981947 ; - oboInOwl:hasDbXref UMLS:C1849694 ; oboInOwl:hasExactSynonym "fundus dystrophy, pseudoinflammatory, recessive form", "pfd, finnish iia", - "pfd, lavia iia" . + "pfd, lavia iia" ; + skos:exactMatch UMLS:C1849694 . OMIM:264450 a owl:Class ; IAO:0100001 OMIM:190685 ; @@ -91768,10 +93878,10 @@ OMIM:264475 a owl:Class ; rdfs:label "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" ; IAO:0000142 PMID:1785624, PMID:9415472 ; - oboInOwl:hasDbXref UMLS:C1849661 ; oboInOwl:hasExactSynonym "acrootoocular syndrome", "aoo syndrome", - "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" . + "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" ; + skos:exactMatch UMLS:C1849661 . OMIM:264480 a owl:Class ; rdfs:label "pseudotrisomy 13 syndrome" ; @@ -91786,16 +93896,16 @@ OMIM:264480 a owl:Class ; PMID:8010349, PMID:8301659, PMID:8418661 ; - oboInOwl:hasDbXref UMLS:C1849649, - ORPHA:2166 ; oboInOwl:hasExactSynonym "holoprosencephaly-polydactyly syndrome", - "pseudotrisomy 13 syndrome" . + "pseudotrisomy 13 syndrome" ; + skos:exactMatch UMLS:C1849649, + ORPHA:2166 . OMIM:264500 a owl:Class ; rdfs:label "pseudouridinuria and mental defect" ; IAO:0000142 PMID:6033118 ; - oboInOwl:hasDbXref UMLS:C1849648 ; - oboInOwl:hasExactSynonym "pseudouridinuria and mental defect" . + oboInOwl:hasExactSynonym "pseudouridinuria and mental defect" ; + skos:exactMatch UMLS:C1849648 . OMIM:264810 a owl:Class ; owl:deprecated true . @@ -91825,34 +93935,35 @@ OMIM:264900 a owl:Class ; PMID:9401068 ; RO:0002525 CHR:9606chr4q35.2 ; RO:0003303 OMIM:612416 ; - oboInOwl:hasDbXref UMLS:C1414498 ; oboInOwl:hasExactSynonym "F11", "coagulation factor 11", "factor 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2160 ; - skos:exactMatch HGNC_symbol:F11 ; + skos:exactMatch UMLS:C1414498, + HGNC:3529, + HGNC_symbol:F11 ; biolink:category biolink:Gene . OMIM:265140 a owl:Class ; rdfs:label "pulmonary arteriovenous fistulas" ; IAO:0000142 PMID:3189185 ; - oboInOwl:hasDbXref UMLS:C0155675 ; - oboInOwl:hasExactSynonym "pulmonary arteriovenous fistulas" . + oboInOwl:hasExactSynonym "pulmonary arteriovenous fistulas" ; + skos:exactMatch UMLS:C0155675 . OMIM:265150 a owl:Class ; rdfs:label "pulmonary atresia with intact ventricular septum" ; IAO:0000142 PMID:1536166, PMID:18203206, PMID:9332657 ; - oboInOwl:hasDbXref UMLS:C0344975 ; - oboInOwl:hasExactSynonym "pulmonary atresia with intact ventricular septum" . + oboInOwl:hasExactSynonym "pulmonary atresia with intact ventricular septum" ; + skos:exactMatch UMLS:C0344975 . OMIM:265200 a owl:Class ; rdfs:label "pulmonary bullae causing pneumothorax" ; IAO:0000142 PMID:841539 ; - oboInOwl:hasDbXref UMLS:C1849566 ; - oboInOwl:hasExactSynonym "pulmonary bullae causing pneumothorax" . + oboInOwl:hasExactSynonym "pulmonary bullae causing pneumothorax" ; + skos:exactMatch UMLS:C1849566 . OMIM:265300 a owl:Class ; rdfs:label "lymphangiectasia, pulmonary, congenital" ; @@ -91861,21 +93972,21 @@ OMIM:265300 a owl:Class ; PMID:7234788, PMID:8368253, PMID:9667408 ; - oboInOwl:hasDbXref UMLS:C1849554, - ORPHA:2414 ; oboInOwl:hasExactSynonym "CPL", "lymphangiectasia, pulmonary, congenital", "lymphangiomatosis, pulmonary", "pulmonary cystic lymphangiectasis" ; + skos:exactMatch UMLS:C1849554, + ORPHA:2414 ; biolink:category biolink:Disease . OMIM:265400 a owl:Class ; rdfs:label "pulmonary hypertension, primary, autosomal recessive" ; IAO:0000142 PMID:13618464, PMID:5651246 ; - oboInOwl:hasDbXref UMLS:C1849552 ; oboInOwl:hasExactSynonym "pulmonary hypertension, primary, autosomal recessive" ; - rdfs:subClassOf OMIMPS:178600 . + rdfs:subClassOf OMIMPS:178600 ; + skos:exactMatch UMLS:C1849552 . OMIM:265430 a owl:Class ; rdfs:label "pulmonary hypoplasia, primary" ; @@ -91890,9 +94001,9 @@ OMIM:265430 a owl:Class ; PMID:7607292, PMID:8088304, PMID:8597863 ; - oboInOwl:hasDbXref UMLS:C0456891 ; oboInOwl:hasExactSynonym "lung agenesis", - "pulmonary hypoplasia, primary" . + "pulmonary hypoplasia, primary" ; + skos:exactMatch UMLS:C0456891 . OMIM:265500 a owl:Class ; rdfs:label "pulmonic stenosis" ; @@ -91902,14 +94013,14 @@ OMIM:265500 a owl:Class ; PMID:4847731, PMID:4852014, PMID:7468498 ; - oboInOwl:hasDbXref UMLS:C1956257 ; - oboInOwl:hasExactSynonym "pulmonic stenosis" . + oboInOwl:hasExactSynonym "pulmonic stenosis" ; + skos:exactMatch UMLS:C1956257 . OMIM:265600 a owl:Class ; rdfs:label "pulmonic stenosis and congenital nephrosis" ; IAO:0000142 PMID:14057981 ; - oboInOwl:hasDbXref UMLS:C0403552 ; - oboInOwl:hasExactSynonym "pulmonic stenosis and congenital nephrosis" . + oboInOwl:hasExactSynonym "pulmonic stenosis and congenital nephrosis" ; + skos:exactMatch UMLS:C0403552 . OMIM:265850 a owl:Class ; rdfs:label "pygmy" ; @@ -91925,17 +94036,17 @@ OMIM:265850 a owl:Class ; PMID:7033787, PMID:8530626, PMID:8964861 ; - oboInOwl:hasDbXref UMLS:C1849524 ; oboInOwl:hasExactSynonym "pygmy", "pygmy, african" ; + skos:exactMatch UMLS:C1849524 ; biolink:category biolink:Disease . OMIM:265880 a owl:Class ; rdfs:label "pyknoachondrogenesis" ; IAO:0000142 PMID:3791681, PMID:7460382 ; - oboInOwl:hasDbXref UMLS:C1849523 ; - oboInOwl:hasExactSynonym "pyknoachondrogenesis" . + oboInOwl:hasExactSynonym "pyknoachondrogenesis" ; + skos:exactMatch UMLS:C1849523 . OMIM:265950 a owl:Class ; rdfs:label "pyloric atresia" ; @@ -91944,8 +94055,8 @@ OMIM:265950 a owl:Class ; PMID:5025486, PMID:5538944, PMID:7337134 ; - oboInOwl:hasDbXref UMLS:C0266159 ; oboInOwl:hasExactSynonym "pyloric atresia" ; + skos:exactMatch UMLS:C0266159 ; biolink:category biolink:Disease . OMIM:266130 a owl:Class ; @@ -91965,11 +94076,11 @@ OMIM:266130 a owl:Class ; PMID:8295398, PMID:874680, PMID:8896573 ; - oboInOwl:hasDbXref UMLS:C0398746 ; oboInOwl:hasExactSynonym "5-oxoprolinuria", "GSSD", "glutathione synthetase deficiency", "pyroglutamic aciduria" ; + skos:exactMatch UMLS:C0398746 ; biolink:category biolink:Disease . OMIM:266140 a owl:Class ; @@ -91987,32 +94098,32 @@ OMIM:266140 a owl:Class ; PMID:7276161, PMID:7448405, PMID:8226774 ; - oboInOwl:hasDbXref UMLS:C0520739 ; oboInOwl:hasExactSynonym "HPP", "pyropoikilocytosis, hereditary" ; + skos:exactMatch UMLS:C0520739 ; biolink:category biolink:Disease . OMIM:266250 a owl:Class ; rdfs:label "radiculoneuropathy, fatal neonatal" ; - oboInOwl:hasDbXref UMLS:C1849471 ; oboInOwl:hasExactSynonym "radiculoneuropathy, fatal neonatal" ; + skos:exactMatch UMLS:C1849471 ; biolink:category biolink:Disease . OMIM:266255 a owl:Class ; rdfs:label "radioulnar synostosis, unilateral, with developmental retardation and hypotonia" ; IAO:0000142 PMID:1384331, PMID:18618994 ; - oboInOwl:hasDbXref UMLS:C1849470 ; - oboInOwl:hasExactSynonym "radioulnar synostosis, unilateral, with developmental retardation and hypotonia" . + oboInOwl:hasExactSynonym "radioulnar synostosis, unilateral, with developmental retardation and hypotonia" ; + skos:exactMatch UMLS:C1849470 . OMIM:266270 a owl:Class ; rdfs:label "ramon syndrome" ; IAO:0000142 PMID:11746043, PMID:1342855, PMID:9557893 ; - oboInOwl:hasDbXref UMLS:C0796133 ; oboInOwl:hasExactSynonym "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth", - "ramon syndrome" . + "ramon syndrome" ; + skos:exactMatch UMLS:C0796133 . OMIM:266280 a owl:Class ; rdfs:label "rapadilino syndrome" ; @@ -92020,15 +94131,15 @@ OMIM:266280 a owl:Class ; PMID:1481838, PMID:18716613, PMID:2801769 ; - oboInOwl:hasDbXref UMLS:C1849453 ; oboInOwl:hasExactSynonym "rapadilino syndrome" ; + skos:exactMatch UMLS:C1849453 ; biolink:category biolink:Disease . OMIM:266350 a owl:Class ; rdfs:label "red skin pigment anomaly of new guinea" ; IAO:0000142 PMID:5579410 ; - oboInOwl:hasDbXref UMLS:C1849451 ; oboInOwl:hasExactSynonym "red skin pigment anomaly of new guinea" ; + skos:exactMatch UMLS:C1849451 ; biolink:category biolink:Disease . OMIM:266400 a owl:Class ; @@ -92038,8 +94149,8 @@ OMIM:266400 a owl:Class ; PMID:21002031, PMID:21032055, PMID:4971760 ; - oboInOwl:hasDbXref UMLS:C1849450 ; - oboInOwl:hasExactSynonym "reese retinal dysplasia" . + oboInOwl:hasExactSynonym "reese retinal dysplasia" ; + skos:exactMatch UMLS:C1849450 . OMIM:266600 a owl:Class ; rdfs:label "inflammatory bowel disease (crohn disease) 1" ; @@ -92157,7 +94268,6 @@ OMIM:266600 a owl:Class ; PMID:9155583, PMID:9636179, PMID:9924607 ; - oboInOwl:hasDbXref UMLS:C0010346 ; oboInOwl:hasExactSynonym "IBD1", "crohn disease", "crohn disease-associated growth failure, susceptibility to", @@ -92165,21 +94275,22 @@ OMIM:266600 a owl:Class ; "regional enteritis", "ulcerative colitis" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C0010346 ; biolink:category biolink:Disease . OMIM:266810 a owl:Class ; rdfs:label "renal and mullerian duct hypoplasia" ; IAO:0000142 PMID:1283287 ; - oboInOwl:hasDbXref UMLS:C1849439 ; - oboInOwl:hasExactSynonym "renal and mullerian duct hypoplasia" . + oboInOwl:hasExactSynonym "renal and mullerian duct hypoplasia" ; + skos:exactMatch UMLS:C1849439 . OMIM:266910 a owl:Class ; rdfs:label "renal dysplasia-limb defects syndrome" ; IAO:0000142 PMID:2240030, PMID:6711618 ; - oboInOwl:hasDbXref UMLS:C1849438 ; oboInOwl:hasExactSynonym "renal dysplasia-limb defects syndrome", - "rl syndrome" . + "rl syndrome" ; + skos:exactMatch UMLS:C1849438 . OMIM:267010 a owl:Class ; rdfs:label "meckel syndrome, iia 7" ; @@ -92196,29 +94307,29 @@ OMIM:267010 a owl:Class ; PMID:6486167, PMID:8357569, PMID:8867663 ; - oboInOwl:hasDbXref UMLS:C2673885 ; oboInOwl:hasExactSynonym "MKS7", "goldston syndrome", "meckel syndrome, iia 7", "renal-hepatic-pancreatic dysplasia with dandy-walker cyst" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C2673885 ; biolink:category biolink:Disease . OMIM:267200 a owl:Class ; rdfs:label "renal tubular acidosis 3" ; IAO:0000142 PMID:4166917, PMID:5011097 ; - oboInOwl:hasDbXref UMLS:C1849435 ; oboInOwl:hasExactSynonym "renal tubular acidosis 3", "rta, bicarbonate-wasting iia", - "rta, dislocation iia" . + "rta, dislocation iia" ; + skos:exactMatch UMLS:C1849435 . OMIM:267400 a owl:Class ; rdfs:label "renal, genital, and middle ear anomalies" ; IAO:0000142 PMID:5420806, PMID:5634940 ; - oboInOwl:hasDbXref UMLS:C1849432 ; - oboInOwl:hasExactSynonym "renal, genital, and middle ear anomalies" . + oboInOwl:hasExactSynonym "renal, genital, and middle ear anomalies" ; + skos:exactMatch UMLS:C1849432 . OMIM:267430 a owl:Class ; rdfs:label "renal tubular dysgenesis" ; @@ -92234,12 +94345,12 @@ OMIM:267430 a owl:Class ; PMID:8705201, PMID:9350819, PMID:9856560 ; - oboInOwl:hasDbXref UMLS:C0266313, - UMLS:C2678367 ; oboInOwl:hasExactSynonym "RTD", "primitive renal tubule syndrome", "renal tubular dysgenesis", "renal tubular dysgenesis with choanal atresia and athelia" ; + skos:exactMatch UMLS:C0266313, + UMLS:C2678367 ; biolink:category biolink:Disease . OMIM:267450 a owl:Class ; @@ -92252,10 +94363,10 @@ OMIM:267450 a owl:Class ; PMID:1741552, PMID:4108940, PMID:7952631 ; - oboInOwl:hasDbXref UMLS:C1968593 ; oboInOwl:hasExactSynonym "hyaline membrane disease, formerly", "rds of prematurity", - "respiratory distress syndrome 1n premature infants" . + "respiratory distress syndrome 1n premature infants" ; + skos:exactMatch UMLS:C1968593 . OMIM:267480 a owl:Class ; rdfs:label "respiratory underresponsiveness to hypoxia and hypercapnia" ; @@ -92264,39 +94375,39 @@ OMIM:267480 a owl:Class ; PMID:5538798, PMID:566281, PMID:958289 ; - oboInOwl:hasDbXref UMLS:C1849430 ; - oboInOwl:hasExactSynonym "respiratory underresponsiveness to hypoxia and hypercapnia" . + oboInOwl:hasExactSynonym "respiratory underresponsiveness to hypoxia and hypercapnia" ; + skos:exactMatch UMLS:C1849430 . OMIM:267730 a owl:Class ; rdfs:label "reticulum cell sarcoma" ; - oboInOwl:hasDbXref UMLS:C0024302 ; - oboInOwl:hasExactSynonym "reticulum cell sarcoma" . + oboInOwl:hasExactSynonym "reticulum cell sarcoma" ; + skos:exactMatch UMLS:C0024302 . OMIM:267740 a owl:Class ; rdfs:label "retinal degeneration and epilepsy" ; IAO:0000142 PMID:475618 ; - oboInOwl:hasDbXref UMLS:C1849416 ; - oboInOwl:hasExactSynonym "retinal degeneration and epilepsy" . + oboInOwl:hasExactSynonym "retinal degeneration and epilepsy" ; + skos:exactMatch UMLS:C1849416 . OMIM:267760 a owl:Class ; rdfs:label "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" ; IAO:0000142 PMID:3827713 ; - oboInOwl:hasDbXref UMLS:C2931831 ; - oboInOwl:hasExactSynonym "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" . + oboInOwl:hasExactSynonym "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" ; + skos:exactMatch UMLS:C2931831 . OMIM:267800 a owl:Class ; rdfs:label "retinal dystrophy, reticular pigmentary, of posterior pole" ; IAO:0000142 PMID:14846543, PMID:23619632, PMID:5791502 ; - oboInOwl:hasDbXref UMLS:C1849407 ; - oboInOwl:hasExactSynonym "retinal dystrophy, reticular pigmentary, of posterior pole" . + oboInOwl:hasExactSynonym "retinal dystrophy, reticular pigmentary, of posterior pole" ; + skos:exactMatch UMLS:C1849407 . OMIM:267900 a owl:Class ; rdfs:label "retinal telangiectasia and hypogammaglobulinemia" ; IAO:0000142 PMID:6018656 ; - oboInOwl:hasDbXref UMLS:C2930961 ; - oboInOwl:hasExactSynonym "retinal telangiectasia and hypogammaglobulinemia" . + oboInOwl:hasExactSynonym "retinal telangiectasia and hypogammaglobulinemia" ; + skos:exactMatch UMLS:C2930961 . OMIM:268000 a owl:Class ; rdfs:label "retinitis pigmentosa" ; @@ -92347,35 +94458,35 @@ OMIM:268000 a owl:Class ; PMID:7733180, PMID:8571973, PMID:9326941 ; - oboInOwl:hasDbXref UMLS:C0035334, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP", "retinitis pigmentosa" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C0035334, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:268010 a owl:Class ; rdfs:label "retinitis pigmentosa inversa with deafness" ; IAO:0000142 PMID:5571218 ; - oboInOwl:hasDbXref UMLS:C1849405 ; - oboInOwl:hasExactSynonym "retinitis pigmentosa inversa with deafness" . + oboInOwl:hasExactSynonym "retinitis pigmentosa inversa with deafness" ; + skos:exactMatch UMLS:C1849405 . OMIM:268020 a owl:Class ; rdfs:label "retinitis pigmentosa, deafness, mental retardation, and hypogonadism" ; IAO:0000142 PMID:1251844, PMID:8456839 ; - oboInOwl:hasDbXref UMLS:C1849401 ; oboInOwl:hasExactSynonym "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation", - "retinitis pigmentosa, deafness, mental retardation, and hypogonadism" . + "retinitis pigmentosa, deafness, mental retardation, and hypogonadism" ; + skos:exactMatch UMLS:C1849401 . OMIM:268025 a owl:Class ; rdfs:label "retinitis pigmentosa, late-adult onset" ; IAO:0000142 PMID:1424244, PMID:2227956, PMID:3604615 ; - oboInOwl:hasDbXref UMLS:C1849400 ; oboInOwl:hasExactSynonym "retinitis pigmentosa, 'senile'", - "retinitis pigmentosa, late-adult onset" . + "retinitis pigmentosa, late-adult onset" ; + skos:exactMatch UMLS:C1849400 . OMIM:268030 a owl:Class ; IAO:0100001 OMIM:600105 ; @@ -92385,10 +94496,10 @@ OMIM:268040 a owl:Class ; rdfs:label "retinohepatoendocrinologic syndrome" ; IAO:0000142 PMID:304775, PMID:946718 ; - oboInOwl:hasDbXref UMLS:C1849399, - ORPHA:3087 ; oboInOwl:hasExactSynonym "retinohepatoendocrinologic syndrome", - "rhe syndrome" . + "rhe syndrome" ; + skos:exactMatch UMLS:C1849399, + ORPHA:3087 . OMIM:268050 a owl:Class ; rdfs:label "retinopathy, pigmentary, and mental retardation" ; @@ -92396,25 +94507,25 @@ OMIM:268050 a owl:Class ; PMID:3096139, PMID:4050854, PMID:5046629 ; - oboInOwl:hasDbXref UMLS:C0796072, - ORPHA:3084 ; oboInOwl:hasExactSynonym "mirhosseini-holmes-walton syndrome", - "retinopathy, pigmentary, and mental retardation" . + "retinopathy, pigmentary, and mental retardation" ; + skos:exactMatch UMLS:C0796072, + ORPHA:3084 . OMIM:268060 a owl:Class ; rdfs:label "retinopathy, pericentral pigmentary, autosomal recessive" ; IAO:0000142 PMID:15953579, PMID:3189470 ; - oboInOwl:hasDbXref UMLS:C1849398 ; oboInOwl:hasExactSynonym "retinitis pigmentosa, pericentral", - "retinopathy, pericentral pigmentary, autosomal recessive" . + "retinopathy, pericentral pigmentary, autosomal recessive" ; + skos:exactMatch UMLS:C1849398 . OMIM:268080 a owl:Class ; rdfs:label "retinoschisis of fovea" ; IAO:0000142 PMID:306756, PMID:880078 ; - oboInOwl:hasDbXref UMLS:C1849397 ; oboInOwl:hasExactSynonym "retinoschisis of fovea" ; + skos:exactMatch UMLS:C1849397 ; biolink:category biolink:Disease . OMIM:268100 a owl:Class ; @@ -92433,13 +94544,13 @@ OMIM:268100 a owl:Class ; PMID:4546336, PMID:5309737, PMID:7645276 ; - oboInOwl:hasDbXref UMLS:C0339541, - UMLS:C1849394 ; oboInOwl:hasExactSynonym "ESCS", "enhanced s-cone syndrome", "favre hyaloideoretinal degeneration", "goldmann-favre syndrome", "retinoschisis with early hemeralopia" ; + skos:exactMatch UMLS:C0339541, + UMLS:C1849394 ; biolink:category biolink:Disease . OMIM:268150 a owl:Class ; @@ -92455,15 +94566,15 @@ OMIM:268150 a owl:Class ; PMID:4962358, PMID:7888828, PMID:8563755 ; - oboInOwl:hasDbXref UMLS:C0272052, - UMLS:C1849387, - UMLS:C4693977 ; oboInOwl:hasExactSynonym "RHNR", "rh deficiency syndrome", "rh-mod", "rh-null disease, regulator iia", "rh-null hemolytic anemia, regulator iia", "rh-null, regulator iia" ; + skos:exactMatch UMLS:C0272052, + UMLS:C1849387, + UMLS:C4693977 ; biolink:category biolink:Disease . OMIM:268240 a owl:Class ; @@ -92476,39 +94587,39 @@ OMIM:268240 a owl:Class ; PMID:2785121, PMID:310969, PMID:3876100 ; - oboInOwl:hasDbXref UMLS:C1849383 ; oboInOwl:hasExactSynonym "rheumatic fever, acute, susceptibility to", - "rheumatic fever-related antigen" . + "rheumatic fever-related antigen" ; + skos:exactMatch UMLS:C1849383 . OMIM:268250 a owl:Class ; rdfs:label "rhizomelic syndrome" ; IAO:0000142 PMID:3591839, PMID:3948431, PMID:7735505 ; - oboInOwl:hasDbXref UMLS:C1849382 ; oboInOwl:hasExactSynonym "rhizomelic dysplasia, familial", - "rhizomelic syndrome" . + "rhizomelic syndrome" ; + skos:exactMatch UMLS:C1849382 . OMIM:268320 a owl:Class ; rdfs:label "rodrigues blindness" ; IAO:0000142 PMID:1583659 ; - oboInOwl:hasDbXref UMLS:C1849332 ; oboInOwl:hasExactSynonym "microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities", - "rodrigues blindness" . + "rodrigues blindness" ; + skos:exactMatch UMLS:C1849332 . OMIM:268500 a owl:Class ; rdfs:label "rowley-rosenberg syndrome" ; IAO:0000142 PMID:13743393, PMID:13744167 ; - oboInOwl:hasDbXref UMLS:C0268426 ; oboInOwl:hasExactSynonym "growth retardation, pulmonary hypertension, and amino aciduria", - "rowley-rosenberg syndrome" . + "rowley-rosenberg syndrome" ; + skos:exactMatch UMLS:C0268426 . OMIM:268650 a owl:Class ; rdfs:label "rudiger syndrome" ; IAO:0000142 PMID:5132310 ; - oboInOwl:hasDbXref UMLS:C0406704 ; - oboInOwl:hasExactSynonym "rudiger syndrome" . + oboInOwl:hasExactSynonym "rudiger syndrome" ; + skos:exactMatch UMLS:C0406704 . OMIM:268670 a owl:Class ; IAO:0100001 OMIM:270400 ; @@ -92525,12 +94636,12 @@ OMIM:268700 a owl:Class ; PMID:5690339, PMID:571908, PMID:934735 ; - oboInOwl:hasDbXref UMLS:C0268556, - ORPHA:3124 ; oboInOwl:hasExactSynonym "alpha-aminoadipic semialdehyde synthase deficiency", "hyperlysinemia, iia 2", "saccharopine dehydrogenase deficiency", "saccharopinuria" ; + skos:exactMatch UMLS:C0268556, + ORPHA:3124 ; biolink:category biolink:Disease . OMIM:268850 a owl:Class ; @@ -92539,10 +94650,10 @@ OMIM:268850 a owl:Class ; PMID:1605250, PMID:1609826, PMID:21271661 ; - oboInOwl:hasDbXref UMLS:C0796142 ; oboInOwl:hasExactSynonym "richieri-costa/guion-almeida syndrome", "sao paulo mca/mr syndrome", "short stature, mental retardation, eye anomalies, and cleft lip/palate" ; + skos:exactMatch UMLS:C0796142 ; biolink:category biolink:Disease . OMIM:268950 a owl:Class ; @@ -92570,7 +94681,6 @@ OMIM:269200 a owl:Class ; PMID:6588752, PMID:7431539, PMID:7643982 ; - oboInOwl:hasDbXref UMLS:C0085860 ; oboInOwl:hasExactSynonym "APS2", "aps 2", "autoimmune polyendocrine syndrome, iia 2", @@ -92579,6 +94689,7 @@ OMIM:269200 a owl:Class ; "polyendocrine autoimmune syndrome, iia 2", "polyglandular autoimmune syndrome, iia 2", "schmidt syndrome" ; + skos:exactMatch UMLS:C0085860 ; biolink:category biolink:Disease . OMIM:269600 a owl:Class ; @@ -92599,42 +94710,42 @@ OMIM:269600 a owl:Class ; PMID:4195998, PMID:4242937, PMID:6299321 ; - oboInOwl:hasDbXref UMLS:C0036489 ; oboInOwl:hasExactSynonym "histiocytosis, sea-blue", "sea-blue histiocyte disease", "sea-blue histiocytosis" ; + skos:exactMatch UMLS:C0036489 ; biolink:category biolink:Disease . OMIM:269630 a owl:Class ; rdfs:label "second metatarsal-metacarpal syndrome" ; IAO:0000142 PMID:168022, PMID:8825607 ; - oboInOwl:hasDbXref UMLS:C1849259 ; - oboInOwl:hasExactSynonym "second metatarsal-metacarpal syndrome" . + oboInOwl:hasExactSynonym "second metatarsal-metacarpal syndrome" ; + skos:exactMatch UMLS:C1849259 . OMIM:269650 a owl:Class ; rdfs:label "secretory component deficiency" ; IAO:0000142 PMID:1107842, PMID:1603129, PMID:6322002 ; - oboInOwl:hasDbXref UMLS:C0398709 ; oboInOwl:hasExactSynonym "iga deficiency, secretory", - "secretory component deficiency" . + "secretory component deficiency" ; + skos:exactMatch UMLS:C0398709 . OMIM:269720 a owl:Class ; rdfs:label "seizures, benign familial neonatal, autosomal recessive" ; IAO:0000142 PMID:1778008 ; - oboInOwl:hasDbXref UMLS:C1849250 ; oboInOwl:hasExactSynonym "bfns, autosomal recessive", "convulsions, benign familial neonatal, autosomal recessive", "epilepsy, benign familial neonatal, autosomal recessive", - "seizures, benign familial neonatal, autosomal recessive" . + "seizures, benign familial neonatal, autosomal recessive" ; + skos:exactMatch UMLS:C1849250 . OMIM:269800 a owl:Class ; rdfs:label "senile plaque formation" ; IAO:0000142 PMID:5886992 ; - oboInOwl:hasDbXref UMLS:C1849249 ; - oboInOwl:hasExactSynonym "senile plaque formation" . + oboInOwl:hasExactSynonym "senile plaque formation" ; + skos:exactMatch UMLS:C1849249 . OMIM:269860 a owl:Class ; rdfs:label "short-rib thoracic dysplasia 12" ; @@ -92653,8 +94764,6 @@ OMIM:269860 a owl:Class ; PMID:8209908, PMID:8488867, PMID:8946117 ; - oboInOwl:hasDbXref UMLS:C0432198, - ORPHA:93268 ; oboInOwl:hasExactSynonym "SRTD12", "beemer-langer syndrome", "short rib syndrome, beemer iia", @@ -92662,14 +94771,16 @@ OMIM:269860 a owl:Class ; "short-rib thoracic dysplasia 12", "srps 4" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C0432198, + ORPHA:93268 ; biolink:category biolink:Disease . OMIM:269870 a owl:Class ; rdfs:label "short stature-obesity syndrome" ; IAO:0000142 PMID:2368813 ; - oboInOwl:hasDbXref UMLS:C1849235 ; oboInOwl:hasExactSynonym "SSOS", - "short stature-obesity syndrome" . + "short stature-obesity syndrome" ; + skos:exactMatch UMLS:C1849235 . OMIM:269950 a owl:Class ; IAO:0100001 OMIM:206000 ; @@ -92698,19 +94809,19 @@ OMIM:270150 a owl:Class ; PMID:6437309, PMID:766625, PMID:9888423 ; - oboInOwl:hasDbXref UMLS:C0086981, - UMLS:C1527336, - ORPHA:289390 ; oboInOwl:hasExactSynonym "sicca syndrome", "sjogren syndrome" ; + skos:exactMatch UMLS:C0086981, + UMLS:C1527336, + ORPHA:289390 ; biolink:category biolink:Disease . OMIM:270220 a owl:Class ; rdfs:label "sjogren-larsson-like ichthyosis without cns or eye involvement" ; IAO:0000142 PMID:7273467 ; - oboInOwl:hasDbXref UMLS:C1849195 ; oboInOwl:hasExactSynonym "ichthyosis, sjogren-larsson-like, without cns or eye involvement", - "sjogren-larsson-like ichthyosis without cns or eye involvement" . + "sjogren-larsson-like ichthyosis without cns or eye involvement" ; + skos:exactMatch UMLS:C1849195 . OMIM:270230 a owl:Class ; IAO:0100001 OMIM:187600 ; @@ -92723,41 +94834,41 @@ OMIM:270240 a owl:Class ; OMIM:270350 a owl:Class ; rdfs:label "anosmia for butyl mercaptan" ; IAO:0000142 PMID:18098898 ; - oboInOwl:hasDbXref UMLS:C1849192 ; oboInOwl:hasExactSynonym "anosmia for butyl mercaptan", - "skunk n-butyl mercaptan, inability to smell" . + "skunk n-butyl mercaptan, inability to smell" ; + skos:exactMatch UMLS:C1849192 . OMIM:270425 a owl:Class ; rdfs:label "sodium-potassium-atpase activity of red cell" ; IAO:0000142 PMID:2556921, PMID:6310395 ; - oboInOwl:hasDbXref UMLS:C1849169 ; oboInOwl:hasExactSynonym "sodium pump sites, number of", - "sodium-potassium-atpase activity of red cell" . + "sodium-potassium-atpase activity of red cell" ; + skos:exactMatch UMLS:C1849169 . OMIM:270460 a owl:Class ; rdfs:label "sonoda syndrome" ; IAO:0000142 PMID:3225826 ; - oboInOwl:hasDbXref UMLS:C0796162 ; oboInOwl:hasExactSynonym "round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development", - "sonoda syndrome" . + "sonoda syndrome" ; + skos:exactMatch UMLS:C0796162 . OMIM:270500 a owl:Class ; rdfs:label "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation" ; IAO:0000142 PMID:1607894, PMID:4154794, PMID:559257 ; - oboInOwl:hasDbXref UMLS:C3151619 ; - oboInOwl:hasExactSynonym "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation" . + oboInOwl:hasExactSynonym "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation" ; + skos:exactMatch UMLS:C3151619 . OMIM:270600 a owl:Class ; rdfs:label "spastic diplegia and mental retardation" ; IAO:0000142 PMID:13292834, PMID:2591069, PMID:3480086 ; - oboInOwl:hasDbXref UMLS:C1849139 ; oboInOwl:hasExactSynonym "spastic diplegia and mental retardation", "spastic diplegia, infantile iia" ; + skos:exactMatch UMLS:C1849139 ; biolink:category biolink:Disease . OMIM:270680 a owl:Class ; @@ -92773,28 +94884,28 @@ OMIM:270710 a owl:Class ; OMIM:270805 a owl:Class ; rdfs:label "spastic paraplegia with myoclonic epilepsy" ; IAO:0000142 PMID:1950452 ; - oboInOwl:hasDbXref UMLS:C1849114 ; - oboInOwl:hasExactSynonym "spastic paraplegia with myoclonic epilepsy" . + oboInOwl:hasExactSynonym "spastic paraplegia with myoclonic epilepsy" ; + skos:exactMatch UMLS:C1849114 . OMIM:270850 a owl:Class ; rdfs:label "spastic paresis, glaucoma, and mental retardation" ; IAO:0000142 PMID:3802560, PMID:7298353 ; - oboInOwl:hasDbXref UMLS:C1849113 ; - oboInOwl:hasExactSynonym "spastic paresis, glaucoma, and mental retardation" . + oboInOwl:hasExactSynonym "spastic paresis, glaucoma, and mental retardation" ; + skos:exactMatch UMLS:C1849113 . OMIM:270900 a owl:Class ; rdfs:label "spastic pseudosclerosis" ; - oboInOwl:hasDbXref UMLS:C0599464 ; oboInOwl:hasExactSynonym "corticopallidodegeneration", "disseminated encephalomyelopathy", - "spastic pseudosclerosis" . + "spastic pseudosclerosis" ; + skos:exactMatch UMLS:C0599464 . OMIM:270950 a owl:Class ; rdfs:label "spastic quadriplegia, retinitis pigmentosa, and mental retardation" ; IAO:0000142 PMID:1271602 ; - oboInOwl:hasDbXref UMLS:C1849112 ; - oboInOwl:hasExactSynonym "spastic quadriplegia, retinitis pigmentosa, and mental retardation" . + oboInOwl:hasExactSynonym "spastic quadriplegia, retinitis pigmentosa, and mental retardation" ; + skos:exactMatch UMLS:C1849112 . OMIM:271100 a owl:Class ; IAO:0100001 OMIM:153400 ; @@ -92803,14 +94914,14 @@ OMIM:271100 a owl:Class ; OMIM:271109 a owl:Class ; rdfs:label "spinal muscular atrophy with mental retardation" ; IAO:0000142 PMID:1141957 ; - oboInOwl:hasDbXref UMLS:C1849109 ; - oboInOwl:hasExactSynonym "spinal muscular atrophy with mental retardation" . + oboInOwl:hasExactSynonym "spinal muscular atrophy with mental retardation" ; + skos:exactMatch UMLS:C1849109 . OMIM:271110 a owl:Class ; rdfs:label "spinal muscular atrophy with microcephaly and mental subnormality" ; IAO:0000142 PMID:6066025 ; - oboInOwl:hasDbXref UMLS:C1849108 ; - oboInOwl:hasExactSynonym "spinal muscular atrophy with microcephaly and mental subnormality" . + oboInOwl:hasExactSynonym "spinal muscular atrophy with microcephaly and mental subnormality" ; + skos:exactMatch UMLS:C1849108 . OMIM:271120 a owl:Class ; IAO:0100001 OMIM:182960 ; @@ -92819,15 +94930,15 @@ OMIM:271120 a owl:Class ; OMIM:271200 a owl:Class ; rdfs:label "spinal muscular atrophy, ryukyuan iia" ; IAO:0000142 PMID:5471917 ; - oboInOwl:hasDbXref UMLS:C1849102 ; - oboInOwl:hasExactSynonym "spinal muscular atrophy, ryukyuan iia" . + oboInOwl:hasExactSynonym "spinal muscular atrophy, ryukyuan iia" ; + skos:exactMatch UMLS:C1849102 . OMIM:271220 a owl:Class ; rdfs:label "spinal muscular atrophy, scapuloperoneal" ; IAO:0000142 PMID:4314731, PMID:4948374 ; - oboInOwl:hasDbXref UMLS:C0751335 ; - oboInOwl:hasExactSynonym "spinal muscular atrophy, scapuloperoneal" . + oboInOwl:hasExactSynonym "spinal muscular atrophy, scapuloperoneal" ; + skos:exactMatch UMLS:C0751335 . OMIM:271225 a owl:Class ; IAO:0100001 OMIM:616866 ; @@ -92836,47 +94947,47 @@ OMIM:271225 a owl:Class ; OMIM:271270 a owl:Class ; rdfs:label "spinocerebellar ataxia with dysmorphism" ; IAO:0000142 PMID:3980016 ; - oboInOwl:hasDbXref UMLS:C1849088 ; - oboInOwl:hasExactSynonym "spinocerebellar ataxia with dysmorphism" . + oboInOwl:hasExactSynonym "spinocerebellar ataxia with dysmorphism" ; + skos:exactMatch UMLS:C1849088 . OMIM:271310 a owl:Class ; rdfs:label "spinocerebellar degeneration and corneal dystrophy" ; IAO:0000142 PMID:3872072 ; - oboInOwl:hasDbXref UMLS:C1849087 ; oboInOwl:hasExactSynonym "corneal dystrophy with spinocerebellar degeneration", "corneal-cerebellar syndrome", - "spinocerebellar degeneration and corneal dystrophy" . + "spinocerebellar degeneration and corneal dystrophy" ; + skos:exactMatch UMLS:C1849087 . OMIM:271320 a owl:Class ; rdfs:label "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" ; IAO:0000142 PMID:3465874, PMID:3872072 ; - oboInOwl:hasDbXref UMLS:C1849085 ; oboInOwl:hasExactSynonym "bedouin spastic ataxia syndrome", - "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" . + "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" ; + skos:exactMatch UMLS:C1849085 . OMIM:271322 a owl:Class ; rdfs:label "spinocerebellar degeneration with slow eye movements" ; IAO:0000142 PMID:2376751 ; - oboInOwl:hasDbXref UMLS:C0752121 ; oboInOwl:hasExactSynonym "SDSEM", - "spinocerebellar degeneration with slow eye movements" . + "spinocerebellar degeneration with slow eye movements" ; + skos:exactMatch UMLS:C0752121 . OMIM:271500 a owl:Class ; rdfs:label "splenoportal vascular anomalies" ; IAO:0000142 PMID:14275729 ; - oboInOwl:hasDbXref UMLS:C0340826 ; - oboInOwl:hasExactSynonym "splenoportal vascular anomalies" . + oboInOwl:hasExactSynonym "splenoportal vascular anomalies" ; + skos:exactMatch UMLS:C0340826 . OMIM:271520 a owl:Class ; rdfs:label "spondylocostal dysostosis with anal atresia and urogenital anomalies" ; IAO:0000142 PMID:7246601, PMID:7473656, PMID:9880219 ; - oboInOwl:hasDbXref UMLS:C1849069 ; oboInOwl:hasExactSynonym "casamassima-morton-nance syndrome", "cmn syndrome", - "spondylocostal dysostosis with anal atresia and urogenital anomalies" . + "spondylocostal dysostosis with anal atresia and urogenital anomalies" ; + skos:exactMatch UMLS:C1849069 . OMIM:271530 a owl:Class ; rdfs:label "brachyolmia iia 1, hobaek iia" ; @@ -92886,11 +94997,11 @@ OMIM:271530 a owl:Class ; PMID:2669482, PMID:6650565, PMID:816327 ; - oboInOwl:hasDbXref UMLS:C1849055 ; oboInOwl:hasExactSynonym "BCYM1A", "brachyolmia iia 1, hobaek iia", "brachyolmia, recessive iia of hobaek", "spondylodysplasia with pure brachyolmia" ; + skos:exactMatch UMLS:C1849055 ; biolink:category biolink:Disease . OMIM:271550 a owl:Class ; @@ -92901,16 +95012,16 @@ OMIM:271600 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia tarda, autosomal recessive" ; IAO:0000142 PMID:19994087, PMID:4191421 ; - oboInOwl:hasDbXref UMLS:C1849054 ; oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia tarda, autosomal recessive" ; + skos:exactMatch UMLS:C1849054 ; biolink:category biolink:Disease . OMIM:271620 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia tarda with mental retardation" ; IAO:0000142 PMID:3612708 ; - oboInOwl:hasDbXref UMLS:C1849053 ; oboInOwl:hasExactSynonym "sedt with mental retardation", - "spondyloepiphyseal dysplasia tarda with mental retardation" . + "spondyloepiphyseal dysplasia tarda with mental retardation" ; + skos:exactMatch UMLS:C1849053 . OMIM:271630 a owl:Class ; rdfs:label "brachyolmia iia 1, toledo iia" ; @@ -92920,12 +95031,12 @@ OMIM:271630 a owl:Class ; PMID:230515, PMID:6784721, PMID:7826119 ; - oboInOwl:hasDbXref UMLS:C1849048 ; oboInOwl:hasExactSynonym "BCYM1B", "brachyolmia iia 1, toledo iia", "paps-chondroitin sulfate sulfotransferase deficiency", "sed, chondroitin sulfate iia", "spondyloepiphyseal dysplasia tarda, toledo iia" ; + skos:exactMatch UMLS:C1849048 ; biolink:category biolink:Disease . OMIM:271650 a owl:Class ; @@ -92933,9 +95044,9 @@ OMIM:271650 a owl:Class ; IAO:0000142 PMID:1264699, PMID:6772027, PMID:6945045 ; - oboInOwl:hasDbXref UMLS:C0432213 ; oboInOwl:hasExactSynonym "SEMDIT", "spondyloepimetaphyseal dysplasia, irapa iia" ; + skos:exactMatch UMLS:C0432213 ; biolink:category biolink:Disease . OMIM:271665 a owl:Class ; @@ -92947,8 +95058,6 @@ OMIM:271665 a owl:Class ; PMID:8434618, PMID:8465857, PMID:8818447 ; - oboInOwl:hasDbXref UMLS:C1849011, - ORPHA:93358 ; oboInOwl:hasExactSynonym "smed, iia 2", "smed, short limb-abnormal calcification iia", "smed, short limb-hand iia", @@ -92956,6 +95065,8 @@ OMIM:271665 a owl:Class ; "smed-sl/ac", "spondylometaepiphyseal dysplasia, short limb-abnormal calcification iia", "spondylometaepiphyseal dysplasia, short limb-hand iia" ; + skos:exactMatch UMLS:C1849011, + ORPHA:93358 ; biolink:category biolink:Disease . OMIM:271700 a owl:Class ; @@ -92966,59 +95077,59 @@ OMIM:271700 a owl:Class ; PMID:6405037, PMID:8588574, PMID:8723097 ; - oboInOwl:hasDbXref UMLS:C0796173 ; oboInOwl:hasExactSynonym "spondyloperipheral dysplasia", "spondyloperipheral dysplasia with short ulna" ; + skos:exactMatch UMLS:C0796173 ; biolink:category biolink:Disease . OMIM:271950 a owl:Class ; rdfs:label "subaortic stenosis, membranous" ; IAO:0000142 PMID:1829065, PMID:4533948 ; - oboInOwl:hasDbXref UMLS:C1848979 ; - oboInOwl:hasExactSynonym "subaortic stenosis, membranous" . + oboInOwl:hasExactSynonym "subaortic stenosis, membranous" ; + skos:exactMatch UMLS:C1848979 . OMIM:271960 a owl:Class ; rdfs:label "subaortic stenosis--short stature syndrome" ; IAO:0000142 PMID:573203, PMID:6537946 ; - oboInOwl:hasDbXref UMLS:C0795947 ; oboInOwl:hasExactSynonym "onat syndrome", - "subaortic stenosis--short stature syndrome" . + "subaortic stenosis--short stature syndrome" ; + skos:exactMatch UMLS:C0795947 . OMIM:272000 a owl:Class ; rdfs:label "sucrosuria, hiatus hernia and mental retardation" ; IAO:0000142 PMID:13492132, PMID:14423514, PMID:14432042 ; - oboInOwl:hasDbXref UMLS:C1848963 ; - oboInOwl:hasExactSynonym "sucrosuria, hiatus hernia and mental retardation" . + oboInOwl:hasExactSynonym "sucrosuria, hiatus hernia and mental retardation" ; + skos:exactMatch UMLS:C1848963 . OMIM:272100 a owl:Class ; rdfs:label "sudanophilic cerebral sclerosis" ; - oboInOwl:hasDbXref UMLS:C0007795 ; oboInOwl:hasExactSynonym "schilder disease", - "sudanophilic cerebral sclerosis" . + "sudanophilic cerebral sclerosis" ; + skos:exactMatch UMLS:C0007795 . OMIM:272150 a owl:Class ; rdfs:label "sugarman brachydactyly" ; IAO:0000142 PMID:7083610 ; - oboInOwl:hasDbXref UMLS:C0406726 ; oboInOwl:hasExactSynonym "brachydactyly with major proximal phalangeal shortening", - "sugarman brachydactyly" . + "sugarman brachydactyly" ; + skos:exactMatch UMLS:C0406726 . OMIM:272350 a owl:Class ; rdfs:label "summitt syndrome" ; IAO:0000142 PMID:3322002, PMID:474616 ; - oboInOwl:hasDbXref UMLS:C1802405 ; - oboInOwl:hasExactSynonym "summitt syndrome" . + oboInOwl:hasExactSynonym "summitt syndrome" ; + skos:exactMatch UMLS:C1802405 . OMIM:272450 a owl:Class ; rdfs:label "syndesmodysplasic dwarfism" ; IAO:0000142 PMID:4657332 ; - oboInOwl:hasDbXref UMLS:C2931647 ; - oboInOwl:hasExactSynonym "syndesmodysplasic dwarfism" . + oboInOwl:hasExactSynonym "syndesmodysplasic dwarfism" ; + skos:exactMatch UMLS:C2931647 . OMIM:272480 a owl:Class ; IAO:0100001 OMIM:186700 ; @@ -93034,21 +95145,21 @@ OMIM:272550 a owl:Class ; OMIM:272600 a owl:Class ; rdfs:label "tapetoretinal degeneration with ataxia" ; - oboInOwl:hasDbXref UMLS:C1848932 ; - oboInOwl:hasExactSynonym "tapetoretinal degeneration with ataxia" . + oboInOwl:hasExactSynonym "tapetoretinal degeneration with ataxia" ; + skos:exactMatch UMLS:C1848932 . OMIM:272620 a owl:Class ; rdfs:label "tardive dyskinesia" ; IAO:0000142 PMID:11722319, PMID:18781856, PMID:6118067 ; - oboInOwl:hasDbXref UMLS:C0686347 ; - oboInOwl:hasExactSynonym "tardive dyskinesia" . + oboInOwl:hasExactSynonym "tardive dyskinesia" ; + skos:exactMatch UMLS:C0686347 . OMIM:272650 a owl:Class ; rdfs:label "tatsumi factor deficiency" ; - oboInOwl:hasDbXref UMLS:C1848931 ; oboInOwl:hasExactSynonym "tatsumi factor deficiency" ; + skos:exactMatch UMLS:C1848931 ; biolink:category biolink:Disease . OMIM:272700 a owl:Class ; @@ -93059,53 +95170,53 @@ OMIM:272700 a owl:Class ; PMID:6992564, PMID:7091187, PMID:819054 ; - oboInOwl:hasDbXref UMLS:C0266039 ; - oboInOwl:hasExactSynonym "taurodontism" . + oboInOwl:hasExactSynonym "taurodontism" ; + skos:exactMatch UMLS:C0266039 . OMIM:272950 a owl:Class ; rdfs:label "teebi-shaltout syndrome" ; IAO:0000142 PMID:23918592, PMID:2750786, PMID:8267003 ; - oboInOwl:hasDbXref UMLS:C1848912, - ORPHA:3291 ; oboInOwl:hasExactSynonym "TBSH", "craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage", - "teebi-shaltout syndrome" . + "teebi-shaltout syndrome" ; + skos:exactMatch UMLS:C1848912, + ORPHA:3291 . OMIM:272980 a owl:Class ; rdfs:label "teeth, congenital absence of, with taurodontia and sparse hair" ; IAO:0000142 PMID:4502158, PMID:4712958, PMID:819054 ; - oboInOwl:hasDbXref UMLS:C1848909 ; oboInOwl:hasExactSynonym "taurodontia, absent teeth, and sparse hair", - "teeth, congenital absence of, with taurodontia and sparse hair" . + "teeth, congenital absence of, with taurodontia and sparse hair" ; + skos:exactMatch UMLS:C1848909 . OMIM:273000 a owl:Class ; rdfs:label "teeth, fused" ; - oboInOwl:hasDbXref UMLS:C0016873 ; - oboInOwl:hasExactSynonym "teeth, fused" . + oboInOwl:hasExactSynonym "teeth, fused" ; + skos:exactMatch UMLS:C0016873 . OMIM:273050 a owl:Class ; rdfs:label "teeth, noneruption of, with maxillary hypoplasia and genu valgum" ; IAO:0000142 PMID:975598 ; - oboInOwl:hasDbXref UMLS:C1848903 ; - oboInOwl:hasExactSynonym "teeth, noneruption of, with maxillary hypoplasia and genu valgum" . + oboInOwl:hasExactSynonym "teeth, noneruption of, with maxillary hypoplasia and genu valgum" ; + skos:exactMatch UMLS:C1848903 . OMIM:273120 a owl:Class ; rdfs:label "teratoma, pineal" ; IAO:0000142 PMID:6859121, PMID:7431063 ; - oboInOwl:hasDbXref UMLS:C1848902 ; - oboInOwl:hasExactSynonym "teratoma, pineal" . + oboInOwl:hasExactSynonym "teratoma, pineal" ; + skos:exactMatch UMLS:C1848902 . OMIM:273150 a owl:Class ; rdfs:label "testes, rudimentary" ; IAO:0000142 PMID:12119933, PMID:13867602 ; - oboInOwl:hasDbXref UMLS:C1848901 ; - oboInOwl:hasExactSynonym "testes, rudimentary" . + oboInOwl:hasExactSynonym "testes, rudimentary" ; + skos:exactMatch UMLS:C1848901 . OMIM:273250 a owl:Class ; rdfs:label "46,xy sex reversal 11" ; @@ -93123,8 +95234,6 @@ OMIM:273250 a owl:Class ; PMID:7239525, PMID:7400886, PMID:834405 ; - oboInOwl:hasDbXref UMLS:C0266427, - ORPHA:983 ; oboInOwl:hasExactSynonym "46,xy sex reversal 11", "SRXY11", "anorchia, familial", @@ -93132,6 +95241,8 @@ OMIM:273250 a owl:Class ; "testicular regression, embryonic", "xy gonadal agenesis/dysgenesis syndrome" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C0266427, + ORPHA:983 ; biolink:category biolink:Disease . OMIM:273350 a owl:Class ; @@ -93142,8 +95253,8 @@ OMIM:273390 a owl:Class ; rdfs:label "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities" ; IAO:0000142 PMID:3681906, PMID:7534355 ; - oboInOwl:hasDbXref UMLS:C2931214 ; - oboInOwl:hasExactSynonym "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities" . + oboInOwl:hasExactSynonym "tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities" ; + skos:exactMatch UMLS:C2931214 . OMIM:273400 a owl:Class ; rdfs:label "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" ; @@ -93151,49 +95262,49 @@ OMIM:273400 a owl:Class ; PMID:2764029, PMID:5036639, PMID:5432287 ; - oboInOwl:hasDbXref UMLS:C0406723 ; oboInOwl:hasExactSynonym "odontotrichomelic syndrome", - "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" . + "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" ; + skos:exactMatch UMLS:C0406723 . OMIM:273490 a owl:Class ; rdfs:label "thalamic degeneration, symmetric infantile" ; IAO:0000142 PMID:1180014, PMID:14493794, PMID:7334503 ; - oboInOwl:hasDbXref UMLS:C2931220 ; - oboInOwl:hasExactSynonym "thalamic degeneration, symmetric infantile" . + oboInOwl:hasExactSynonym "thalamic degeneration, symmetric infantile" ; + skos:exactMatch UMLS:C2931220 . OMIM:273600 a owl:Class ; rdfs:label "thalidomide susceptibility" ; - oboInOwl:hasDbXref UMLS:C1848866 ; - oboInOwl:hasExactSynonym "thalidomide susceptibility" . + oboInOwl:hasExactSynonym "thalidomide susceptibility" ; + skos:exactMatch UMLS:C1848866 . OMIM:273680 a owl:Class ; rdfs:label "thanatophoric dysplasia, glasgow variant" ; IAO:0000142 PMID:3901754, PMID:7773297 ; - oboInOwl:hasDbXref UMLS:C1848865 ; oboInOwl:hasExactSynonym "neonatally lethal short-limb skeletal dysplasia, glasgow iia", - "thanatophoric dysplasia, glasgow variant" . + "thanatophoric dysplasia, glasgow variant" ; + skos:exactMatch UMLS:C1848865 . OMIM:273730 a owl:Class ; rdfs:label "thoracic dysplasia-hydrocephalus syndrome" ; IAO:0000142 PMID:3295244 ; - oboInOwl:hasDbXref UMLS:C1848864 ; - oboInOwl:hasExactSynonym "thoracic dysplasia-hydrocephalus syndrome" . + oboInOwl:hasExactSynonym "thoracic dysplasia-hydrocephalus syndrome" ; + skos:exactMatch UMLS:C1848864 . OMIM:273740 a owl:Class ; rdfs:label "thoracomelic dysplasia" ; IAO:0000142 PMID:3184141 ; - oboInOwl:hasDbXref UMLS:C1848863 ; oboInOwl:hasExactSynonym "'thoraco-limb' dysplasia", - "thoracomelic dysplasia" . + "thoracomelic dysplasia" ; + skos:exactMatch UMLS:C1848863 . OMIM:273770 a owl:Class ; rdfs:label "threoninemia" ; - oboInOwl:hasDbXref UMLS:C1848861 ; oboInOwl:hasExactSynonym "hyperthreoninemia", - "threoninemia" . + "threoninemia" ; + skos:exactMatch UMLS:C1848861 . OMIM:273800 a owl:Class ; rdfs:label "glanzmann thrombasthenia 1" ; @@ -93249,7 +95360,6 @@ OMIM:273800 a owl:Class ; PMID:8282784, PMID:9160670, PMID:9845537 ; - oboInOwl:hasDbXref UMLS:C0040015 ; oboInOwl:hasExactSynonym "GT1", "bleeding disorder, platelet-type, 2", "glanzmann thrombasthenia", @@ -93261,6 +95371,7 @@ OMIM:273800 a owl:Class ; "thrombasthenia of glanzmann and naegeli" ; rdfs:subClassOf OMIMPS:231200, OMIMPS:273800 ; + skos:exactMatch UMLS:C0040015 ; biolink:category biolink:Disease . OMIM:274180 a owl:Class ; @@ -93274,8 +95385,6 @@ OMIM:274180 a owl:Class ; PMID:9367676 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:231095 ; - oboInOwl:hasDbXref UMLS:C1420620, - UMLS:C4016444 ; oboInOwl:hasExactSynonym "TBXAS1", "cyp5a1", "cytochrome p450, subfamily 5", @@ -93283,36 +95392,39 @@ OMIM:274180 a owl:Class ; "thromboxane a synthase, platelet" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6916 ; - skos:exactMatch HGNC_symbol:TBXAS1 ; + skos:exactMatch UMLS:C1420620, + UMLS:C4016444, + HGNC:11609, + HGNC_symbol:TBXAS1 ; biolink:category biolink:Gene . OMIM:274190 a owl:Class ; rdfs:label "thumb agenesis, short stature, and immunodeficiency" ; - oboInOwl:hasDbXref UMLS:C1848818 ; oboInOwl:hasExactSynonym "thumb agenesis, short stature, and immunodeficiency" ; + skos:exactMatch UMLS:C1848818 ; biolink:category biolink:Disease . OMIM:274200 a owl:Class ; rdfs:label "thumb, distal hyperextensibility of" ; IAO:0000142 PMID:13137887 ; - oboInOwl:hasDbXref UMLS:C1848817 ; - oboInOwl:hasExactSynonym "thumb, distal hyperextensibility of" . + oboInOwl:hasExactSynonym "thumb, distal hyperextensibility of" ; + skos:exactMatch UMLS:C1848817 . OMIM:274205 a owl:Class ; rdfs:label "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" ; IAO:0000142 PMID:1518028 ; - oboInOwl:hasDbXref UMLS:C1848816 ; - oboInOwl:hasExactSynonym "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" . + oboInOwl:hasExactSynonym "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" ; + skos:exactMatch UMLS:C1848816 . OMIM:274210 a owl:Class ; rdfs:label "thymic aplasia with fetal death" ; - oboInOwl:hasDbXref UMLS:C1848815 ; - oboInOwl:hasExactSynonym "thymic aplasia with fetal death" . + oboInOwl:hasExactSynonym "thymic aplasia with fetal death" ; + skos:exactMatch UMLS:C1848815 . OMIM:274240 a owl:Class ; rdfs:label "thyrocerebroretinal syndrome" ; - oboInOwl:hasDbXref UMLS:C1848813 ; - oboInOwl:hasExactSynonym "thyrocerebroretinal syndrome" . + oboInOwl:hasExactSynonym "thyrocerebroretinal syndrome" ; + skos:exactMatch UMLS:C1848813 . OMIM:274260 a owl:Class ; IAO:0100001 OMIM:274230 ; @@ -93322,8 +95434,8 @@ OMIM:274265 a owl:Class ; rdfs:label "thymic-renal-anal-lung dysplasia" ; IAO:0000142 PMID:2260572, PMID:6393764 ; - oboInOwl:hasDbXref UMLS:C1848812 ; - oboInOwl:hasExactSynonym "thymic-renal-anal-lung dysplasia" . + oboInOwl:hasExactSynonym "thymic-renal-anal-lung dysplasia" ; + skos:exactMatch UMLS:C1848812 . OMIM:274300 a owl:Class ; rdfs:label "thyroid hormone resistance, generalized, autosomal recessive" ; @@ -93337,12 +95449,12 @@ OMIM:274300 a owl:Class ; PMID:6287848, PMID:6538138, PMID:6769941 ; - oboInOwl:hasDbXref UMLS:C3489796 ; oboInOwl:hasExactSynonym "GRTHR", "gthr", "refetoff syndrome", "thyroid hormone resistance, generalized, autosomal recessive", "thyroid hormone unresponsiveness" ; + skos:exactMatch UMLS:C3489796 ; biolink:category biolink:Disease . OMIM:274700 a owl:Class ; @@ -93368,17 +95480,17 @@ OMIM:274700 a owl:Class ; PMID:7462393, PMID:8626865, PMID:9398747 ; - oboInOwl:hasDbXref UMLS:C0342194 ; oboInOwl:hasExactSynonym "TDH3", "hypothyroidism, congenital, due to dyshormonogenesis, 3", "thyroid dyshormonogenesis 3", "thyroid hormonogenesis, genetic defect in, 3" ; + skos:exactMatch UMLS:C0342194 ; biolink:category biolink:Disease . OMIM:275190 a owl:Class ; rdfs:label "tiglic acidemia" ; - oboInOwl:hasDbXref UMLS:C1848793 ; - oboInOwl:hasExactSynonym "tiglic acidemia" . + oboInOwl:hasExactSynonym "tiglic acidemia" ; + skos:exactMatch UMLS:C1848793 . OMIM:275200 a owl:Class ; rdfs:label "hypothyroidism, congenital, nongoitrous, 1" ; @@ -93404,7 +95516,6 @@ OMIM:275200 a owl:Class ; PMID:9329388, PMID:9385128, PMID:9398691 ; - oboInOwl:hasDbXref UMLS:C3493776 ; oboInOwl:hasExactSynonym "CHNG1", "hypothyroidism due to unresponsiveness to thyrotropin", "hypothyroidism, congenital, due to tsh resistance", @@ -93414,19 +95525,20 @@ OMIM:275200 a owl:Class ; "thyrotropin resistance", "tsh resistance" ; rdfs:subClassOf OMIMPS:275200 ; + skos:exactMatch UMLS:C3493776 ; biolink:category biolink:Disease . OMIM:275230 a owl:Class ; rdfs:label "tibia, absence of, with congenital deafness" ; - oboInOwl:hasDbXref UMLS:C1848758 ; - oboInOwl:hasExactSynonym "tibia, absence of, with congenital deafness" . + oboInOwl:hasExactSynonym "tibia, absence of, with congenital deafness" ; + skos:exactMatch UMLS:C1848758 . OMIM:275240 a owl:Class ; rdfs:label "tinea imbricata, susceptibility to" ; IAO:0000142 PMID:63655, PMID:7218274 ; - oboInOwl:hasDbXref UMLS:C0276742 ; - oboInOwl:hasExactSynonym "tinea imbricata, susceptibility to" . + oboInOwl:hasExactSynonym "tinea imbricata, susceptibility to" ; + skos:exactMatch UMLS:C0276742 . OMIM:275250 a owl:Class ; rdfs:label "tongue, pigmented fungiform papillae of" ; @@ -93435,16 +95547,16 @@ OMIM:275250 a owl:Class ; PMID:5444880, PMID:6023044, PMID:658975 ; - oboInOwl:hasDbXref UMLS:C1848756 ; oboInOwl:hasExactSynonym "tongue, pigmented fungiform papillae of" ; + skos:exactMatch UMLS:C1848756 ; biolink:category biolink:Disease . OMIM:275300 a owl:Class ; rdfs:label "tracheobronchomegaly" ; IAO:0000142 PMID:14259999, PMID:5924804 ; - oboInOwl:hasDbXref UMLS:C0040587 ; - oboInOwl:hasExactSynonym "tracheobronchomegaly" . + oboInOwl:hasExactSynonym "tracheobronchomegaly" ; + skos:exactMatch UMLS:C0040587 . OMIM:275360 a owl:Class ; rdfs:label "TREH" ; @@ -93455,20 +95567,21 @@ OMIM:275360 a owl:Class ; PMID:9427547 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:612119 ; - oboInOwl:hasDbXref UMLS:C1421114 ; oboInOwl:hasExactSynonym "TREH", "alpha,alpha-trehalose-1-d-glucohydrolase", "trehalase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11181 ; - skos:exactMatch HGNC_symbol:TREH ; + skos:exactMatch UMLS:C1421114, + HGNC:12266, + HGNC_symbol:TREH ; biolink:category biolink:Gene . OMIM:275370 a owl:Class ; rdfs:label "tricarboxylic acid cycle, defect of" ; IAO:0000142 PMID:5032527 ; - oboInOwl:hasDbXref UMLS:C1848746 ; oboInOwl:hasExactSynonym "tricarboxylic acid cycle, defect of" ; + skos:exactMatch UMLS:C1848746 ; biolink:category biolink:Disease . OMIM:275400 a owl:Class ; @@ -93483,19 +95596,19 @@ OMIM:275400 a owl:Class ; PMID:3963113, PMID:5550742, PMID:6715173 ; - oboInOwl:hasDbXref UMLS:C1848745, - ORPHA:3363 ; oboInOwl:hasExactSynonym "OMCS", "eyelashes, long, with mental retardation", "oliver-mcfarlane syndrome", "trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina" ; + skos:exactMatch UMLS:C1848745, + ORPHA:3363 ; biolink:category biolink:Disease . OMIM:275450 a owl:Class ; rdfs:label "trichoodontoonychial dysplasia with bone deficiency" ; IAO:0000142 PMID:6859125 ; - oboInOwl:hasDbXref UMLS:C3279457 ; - oboInOwl:hasExactSynonym "trichoodontoonychial dysplasia with bone deficiency" . + oboInOwl:hasExactSynonym "trichoodontoonychial dysplasia with bone deficiency" ; + skos:exactMatch UMLS:C3279457 . OMIM:275500 a owl:Class ; IAO:0100001 OMIM:190350 ; @@ -93508,8 +95621,8 @@ OMIM:275550 a owl:Class ; OMIM:275595 a owl:Class ; rdfs:label "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet" ; IAO:0000142 PMID:2063891 ; - oboInOwl:hasDbXref UMLS:C1848743 ; - oboInOwl:hasExactSynonym "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet" . + oboInOwl:hasExactSynonym "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet" ; + skos:exactMatch UMLS:C1848743 . OMIM:275600 a owl:Class ; owl:deprecated true . @@ -93556,7 +95669,6 @@ OMIM:276000 a owl:Class ; PMID:9322498 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:167800 ; - oboInOwl:hasDbXref UMLS:C1418965 ; oboInOwl:hasExactSynonym "PRSS1", "protease, serine, 1", "trypsin 1", @@ -93564,14 +95676,16 @@ OMIM:276000 a owl:Class ; "trypsinogen, cationic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5644 ; - skos:exactMatch HGNC_symbol:PRSS1 ; + skos:exactMatch UMLS:C1418965, + HGNC:9475, + HGNC_symbol:PRSS1 ; biolink:category biolink:Gene . OMIM:276100 a owl:Class ; rdfs:label "tryptophanuria with dwarfism" ; IAO:0000142 PMID:14055140 ; - oboInOwl:hasDbXref UMLS:C0268473 ; oboInOwl:hasExactSynonym "tryptophanuria with dwarfism" ; + skos:exactMatch UMLS:C0268473 ; biolink:category biolink:Disease . OMIM:276200 a owl:Class ; @@ -93579,8 +95693,8 @@ OMIM:276200 a owl:Class ; IAO:0000142 PMID:13694617, PMID:13694619, PMID:4110034 ; - oboInOwl:hasDbXref UMLS:C1848724 ; - oboInOwl:hasExactSynonym "t-substance anomaly" . + oboInOwl:hasExactSynonym "t-substance anomaly" ; + skos:exactMatch UMLS:C1848724 . OMIM:276410 a owl:Class ; rdfs:label "twinning, monozygotic" ; @@ -93593,8 +95707,8 @@ OMIM:276410 a owl:Class ; PMID:2884372, PMID:556630, PMID:9143925 ; - oboInOwl:hasDbXref UMLS:C1321860 ; - oboInOwl:hasExactSynonym "twinning, monozygotic" . + oboInOwl:hasExactSynonym "twinning, monozygotic" ; + skos:exactMatch UMLS:C1321860 . OMIM:276500 a owl:Class ; IAO:0100001 OMIM:276710 ; @@ -93603,14 +95717,14 @@ OMIM:276500 a owl:Class ; OMIM:276800 a owl:Class ; rdfs:label "tyrosinosis" ; IAO:0000142 PMID:16744947 ; - oboInOwl:hasDbXref UMLS:C0268484 ; - oboInOwl:hasExactSynonym "tyrosinosis" . + oboInOwl:hasExactSynonym "tyrosinosis" ; + skos:exactMatch UMLS:C0268484 . OMIM:276822 a owl:Class ; rdfs:label "ulnar agenesis and endocardial fibroelastosis" ; IAO:0000142 PMID:2248295 ; - oboInOwl:hasDbXref UMLS:C1848649 ; - oboInOwl:hasExactSynonym "ulnar agenesis and endocardial fibroelastosis" . + oboInOwl:hasExactSynonym "ulnar agenesis and endocardial fibroelastosis" ; + skos:exactMatch UMLS:C1848649 . OMIM:276850 a owl:Class ; IAO:0100001 OMIM:274150 ; @@ -93655,13 +95769,14 @@ OMIM:276903 a owl:Class ; PMID:9843659 ; RO:0002525 CHR:9606chr11q13.5 ; RO:0003303 OMIM:276900 ; - oboInOwl:hasDbXref UMLS:C1417569 ; oboInOwl:hasExactSynonym "MYO7A", "myosin 7a", "myosin, unconventional, family vii, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4647 ; - skos:exactMatch HGNC_symbol:MYO7A ; + skos:exactMatch UMLS:C1417569, + HGNC:7606, + HGNC_symbol:MYO7A ; biolink:category biolink:Gene . OMIM:276905 a owl:Class ; @@ -93677,13 +95792,13 @@ OMIM:276950 a owl:Class ; PMID:2816994, PMID:6335367, PMID:8172244 ; - oboInOwl:hasDbXref UMLS:C1848599, - UMLS:C1848600, - UMLS:C2749240 ; oboInOwl:hasExactSynonym "vacterl association with hydrocephalus", "vacterl-h", "vater association with hydrocephalus", "vater association with macrocephaly and ventriculomegaly" ; + skos:exactMatch UMLS:C1848599, + UMLS:C1848600, + UMLS:C2749240 ; biolink:category biolink:Disease . OMIM:277000 a owl:Class ; @@ -93718,8 +95833,6 @@ OMIM:277000 a owl:Class ; PMID:8462192, PMID:9165114, PMID:966914 ; - oboInOwl:hasDbXref UMLS:C1698581, - UMLS:C2674045 ; oboInOwl:hasExactSynonym "MRKH", "congenital absence of uterus and vagina", "mayer-rokitansky-kuster-hauser syndrome", @@ -93730,6 +95843,8 @@ OMIM:277000 a owl:Class ; "urogenital adysplasia", "uterus bipartitus solidus rudimentarius cum vagina solida", "von mayer-rokitansky-kuster anomaly" ; + skos:exactMatch UMLS:C1698581, + UMLS:C2674045 ; biolink:category biolink:Disease . OMIM:277100 a owl:Class ; @@ -93738,24 +95853,24 @@ OMIM:277100 a owl:Class ; PMID:5863810, PMID:6066688, PMID:6067402 ; - oboInOwl:hasDbXref UMLS:C0268573 ; oboInOwl:hasExactSynonym "hypervalinemia", "valine transaminase deficiency", "valinemia" ; + skos:exactMatch UMLS:C0268573 ; biolink:category biolink:Disease . OMIM:277150 a owl:Class ; rdfs:label "van bogaert-hozay syndrome" ; IAO:0000142 PMID:13167893 ; - oboInOwl:hasDbXref UMLS:C1848598 ; oboInOwl:hasExactSynonym "van bogaert-hozay syndrome" ; + skos:exactMatch UMLS:C1848598 ; biolink:category biolink:Disease . OMIM:277175 a owl:Class ; rdfs:label "vascular hyalinosis" ; IAO:0000142 PMID:3485063 ; - oboInOwl:hasDbXref UMLS:C1848590 ; - oboInOwl:hasExactSynonym "vascular hyalinosis" . + oboInOwl:hasExactSynonym "vascular hyalinosis" ; + skos:exactMatch UMLS:C1848590 . OMIM:277180 a owl:Class ; rdfs:label "vas deferens, congenital bilateral aplasia of" ; @@ -93780,14 +95895,14 @@ OMIM:277180 a owl:Class ; PMID:7739684, PMID:7968122, PMID:8557264 ; - oboInOwl:hasDbXref UMLS:C0403814, - UMLS:C5393224, - ORPHA:48 ; oboInOwl:hasExactSynonym "CBAVD", "cavd", "vas deferens, congenital bilateral aplasia of", "vas deferens, congenital unilateral aplasia of" ; rdfs:subClassOf OMIMPS:277180 ; + skos:exactMatch UMLS:C0403814, + UMLS:C5393224, + ORPHA:48 ; biolink:category biolink:Disease . OMIM:277200 a owl:Class ; @@ -93797,9 +95912,9 @@ OMIM:277200 a owl:Class ; PMID:14495868, PMID:5093262, PMID:6070007 ; - oboInOwl:hasDbXref UMLS:C1848587 ; oboInOwl:hasExactSynonym "irvh", - "right ventricular hypoplasia, isolated" . + "right ventricular hypoplasia, isolated" ; + skos:exactMatch UMLS:C1848587 . OMIM:277320 a owl:Class ; rdfs:label "visceral myopathy, familial, with external ophthalmoplegia" ; @@ -93809,17 +95924,17 @@ OMIM:277320 a owl:Class ; PMID:6687898, PMID:6859110, PMID:9051881 ; - oboInOwl:hasDbXref UMLS:C1848586 ; oboInOwl:hasExactSynonym "intestinal pseudoobstruction with external ophthalmoplegia", "muscular dystrophy, oculogastrointestinal", "visceral myopathy, familial, with external ophthalmoplegia" ; + skos:exactMatch UMLS:C1848586 ; biolink:category biolink:Disease . OMIM:277350 a owl:Class ; rdfs:label "hypercarotenemia and vitamin a deficiency, autosomal recessive" ; IAO:0000142 PMID:5573148 ; - oboInOwl:hasDbXref UMLS:C2678266 ; oboInOwl:hasExactSynonym "hypercarotenemia and vitamin a deficiency, autosomal recessive" ; + skos:exactMatch UMLS:C2678266 ; biolink:category biolink:Disease . OMIM:277420 a owl:Class ; @@ -93829,8 +95944,8 @@ OMIM:277420 a owl:Class ; OMIM:277465 a owl:Class ; rdfs:label "vitiligo, progressive, with mental retardation and urethral duplication" ; IAO:0000142 PMID:1518029 ; - oboInOwl:hasDbXref UMLS:C1848532 ; - oboInOwl:hasExactSynonym "vitiligo, progressive, with mental retardation and urethral duplication" . + oboInOwl:hasExactSynonym "vitiligo, progressive, with mental retardation and urethral duplication" ; + skos:exactMatch UMLS:C1848532 . OMIM:277470 a owl:Class ; rdfs:label "pontocerebellar hypoplasia, iia 2a" ; @@ -93842,13 +95957,13 @@ OMIM:277470 a owl:Class ; PMID:2370559, PMID:7854532, PMID:8147499 ; - oboInOwl:hasDbXref UMLS:C1848526 ; oboInOwl:hasExactSynonym "PCH2A", "pch2", "pontocerebellar hypoplasia with progressive cerebral atrophy", "pontocerebellar hypoplasia, iia 2a", "volendam neurodegenerative disease" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C1848526 ; biolink:category biolink:Disease . OMIM:277480 a owl:Class ; @@ -93876,10 +95991,10 @@ OMIM:277480 a owl:Class ; PMID:8367445, PMID:8500791, PMID:9569178 ; - oboInOwl:hasDbXref UMLS:C1264041 ; oboInOwl:hasExactSynonym "VWD3", "von willebrand disease, iia 3", "vwd, iia 3" ; + skos:exactMatch UMLS:C1264041 ; biolink:category biolink:Disease . OMIM:277610 a owl:Class ; @@ -93899,8 +96014,8 @@ OMIM:277720 a owl:Class ; PMID:7199706, PMID:856233, PMID:8882790 ; - oboInOwl:hasDbXref UMLS:C1848470 ; oboInOwl:hasExactSynonym "whistling face syndrome, recessive form" ; + skos:exactMatch UMLS:C1848470 ; biolink:category biolink:Disease . OMIM:277730 a owl:Class ; @@ -93915,17 +96030,17 @@ OMIM:277730 a owl:Class ; PMID:8419340, PMID:8838793, PMID:927453 ; - oboInOwl:hasDbXref UMLS:C0349464 ; oboInOwl:hasExactSynonym "alcohol-induced encephalopathy", "transketolase defect", "wernicke-korsakoff syndrome" ; + skos:exactMatch UMLS:C0349464 ; biolink:category biolink:Disease . OMIM:277740 a owl:Class ; rdfs:label "white forelock with malformations" ; IAO:0000142 PMID:7398117 ; - oboInOwl:hasDbXref UMLS:C1848463 ; - oboInOwl:hasExactSynonym "white forelock with malformations" . + oboInOwl:hasExactSynonym "white forelock with malformations" ; + skos:exactMatch UMLS:C1848463 . OMIM:277970 a owl:Class ; IAO:0100001 OMIM:614493 ; @@ -93934,21 +96049,21 @@ OMIM:277970 a owl:Class ; OMIM:277990 a owl:Class ; rdfs:label "wolff mental retardation syndrome" ; IAO:0000142 PMID:8151642 ; - oboInOwl:hasDbXref UMLS:C1848439 ; - oboInOwl:hasExactSynonym "wolff mental retardation syndrome" . + oboInOwl:hasExactSynonym "wolff mental retardation syndrome" ; + skos:exactMatch UMLS:C1848439 . OMIM:278100 a owl:Class ; IAO:0000142 PMID:5504079 ; IAO:0100001 OMIM:278000 ; - oboInOwl:hasDbXref UMLS:C1848436 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1848436 . OMIM:278200 a owl:Class ; rdfs:label "woolly hair, hypotrichosis, everted lower lip, and outstanding ears" ; IAO:0000142 PMID:14113527 ; - oboInOwl:hasDbXref UMLS:C0406718 ; oboInOwl:hasExactSynonym "salamon syndrome", - "woolly hair, hypotrichosis, everted lower lip, and outstanding ears" . + "woolly hair, hypotrichosis, everted lower lip, and outstanding ears" ; + skos:exactMatch UMLS:C0406718 . OMIM:278205 a owl:Class ; IAO:0100001 OMIM:601214 ; @@ -93975,8 +96090,8 @@ OMIM:278800 a owl:Class ; PMID:4811796, PMID:5818379, PMID:8566949 ; - oboInOwl:hasDbXref UMLS:C0265201 ; oboInOwl:hasExactSynonym "lange sanctis-cacchione syndrome" ; + skos:exactMatch UMLS:C0265201 ; biolink:category biolink:Disease . OMIM:278810 a owl:Class ; @@ -94004,17 +96119,17 @@ OMIM:278850 a owl:Class ; PMID:8262517, PMID:9475089 ; RO:0002525 CHR:9606chr17q24.3-q25.1 ; - oboInOwl:hasDbXref UMLS:C2749215 ; oboInOwl:hasExactSynonym "46,xx sex reversal 2", "SRXX2", "chromosome 17q24 duplication syndrome" ; + skos:exactMatch UMLS:C2749215 ; biolink:category biolink:Disease . OMIM:278900 a owl:Class ; rdfs:label "xylosidase deficiency" ; IAO:0000142 PMID:4193777 ; - oboInOwl:hasDbXref UMLS:C1848407 ; - oboInOwl:hasExactSynonym "xylosidase deficiency" . + oboInOwl:hasExactSynonym "xylosidase deficiency" ; + skos:exactMatch UMLS:C1848407 . OMIM:279000 a owl:Class ; rdfs:label "young syndrome" ; @@ -94026,28 +96141,28 @@ OMIM:279000 a owl:Class ; PMID:7539448, PMID:7551394, PMID:8100886 ; - oboInOwl:hasDbXref UMLS:C0340037 ; oboInOwl:hasExactSynonym "azoospermia, obstructive, and chronic sinopulmonary infections", "barry-perkins-young syndrome", "sinusitis-infertility syndrome", "young syndrome" ; + skos:exactMatch UMLS:C0340037 ; biolink:category biolink:Disease . OMIM:300001 a owl:Class ; rdfs:label "ichthyosis, x-linked, without steroid sulfatase deficiency" ; IAO:0000142 PMID:8588575 ; - oboInOwl:hasDbXref UMLS:C1848387 ; oboInOwl:hasExactSynonym "ichthyosis, x-linked, without steroid sulfatase deficiency" ; + skos:exactMatch UMLS:C1848387 ; biolink:category biolink:Disease . OMIM:300010 a owl:Class ; rdfs:label "A11" ; IAO:0000142 PMID:2461599 ; - oboInOwl:hasDbXref UMLS:C1848335 ; oboInOwl:hasExactSynonym "A11", "a-11 gene", "dxs435e" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1848335 ; biolink:category biolink:Gene . OMIM:300015 a owl:Class ; @@ -94055,13 +96170,14 @@ OMIM:300015 a owl:Class ; IAO:0000142 PMID:8098975, PMID:8229515, PMID:8397829 ; - oboInOwl:hasDbXref UMLS:C1848322 ; oboInOwl:hasExactSynonym "ASMT", "acetylserotonin methyltransferase, x-chromosomal", "hydroxyindole-o-methyltransferase, x-chromosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:438 ; - skos:exactMatch HGNC_symbol:ASMT ; + skos:exactMatch UMLS:C1848322, + HGNC:750, + HGNC_symbol:ASMT ; biolink:category biolink:Gene . OMIM:300017 a owl:Class ; @@ -94131,7 +96247,15 @@ OMIM:300017 a owl:Class ; PMID:9883725 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300244 ; - oboInOwl:hasDbXref UMLS:C0025237, + oboInOwl:hasExactSynonym "FLNA", + "actin-binding protein 280", + "filamin 1", + "filamin a", + "filamin, alpha", + "fln" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:2316 ; + skos:exactMatch UMLS:C0025237, UMLS:C0262436, UMLS:C0265251, UMLS:C1414635, @@ -94145,16 +96269,9 @@ OMIM:300017 a owl:Class ; UMLS:C4016451, UMLS:C4225601, UMLS:C4225602, - UMLS:C4281559 ; - oboInOwl:hasExactSynonym "FLNA", - "actin-binding protein 280", - "filamin 1", - "filamin a", - "filamin, alpha", - "fln" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:2316 ; - skos:exactMatch HGNC_symbol:FLNA ; + UMLS:C4281559, + HGNC:3754, + HGNC_symbol:FLNA ; biolink:category biolink:Gene . OMIM:300020 a owl:Class ; @@ -94166,14 +96283,15 @@ OMIM:300022 a owl:Class ; IAO:0000142 PMID:10520995, PMID:20010807, PMID:8570614 ; - oboInOwl:hasDbXref UMLS:C1418662 ; oboInOwl:hasExactSynonym "PLXNA3", "plexin 4", "plexin a3", "transmembrane protein sex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55558 ; - skos:exactMatch HGNC_symbol:PLXNA3 ; + skos:exactMatch UMLS:C1418662, + HGNC:9101, + HGNC_symbol:PLXNA3 ; biolink:category biolink:Gene . OMIM:300023 a owl:Class ; @@ -94182,25 +96300,27 @@ OMIM:300023 a owl:Class ; PMID:11754100, PMID:22965914, PMID:8570618 ; - oboInOwl:hasDbXref UMLS:C1412521 ; oboInOwl:hasExactSynonym "ARHGAP4", "gtpase-activating protein, rho, 4", "rho gap hematopoietic protein c1", "rho gtpase-activating protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:393 ; - skos:exactMatch HGNC_symbol:ARHGAP4 ; + skos:exactMatch UMLS:C1412521, + HGNC:674, + HGNC_symbol:ARHGAP4 ; biolink:category biolink:Gene . OMIM:300024 a owl:Class ; rdfs:label "ZNF157" ; IAO:0000142 PMID:8586441 ; - oboInOwl:hasDbXref UMLS:C1421644 ; oboInOwl:hasExactSynonym "ZNF157", "zinc finger protein 157" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7712 ; - skos:exactMatch HGNC_symbol:ZNF157 ; + skos:exactMatch UMLS:C1421644, + HGNC:12942, + HGNC_symbol:ZNF157 ; biolink:category biolink:Gene . OMIM:300026 a owl:Class ; @@ -94208,38 +96328,41 @@ OMIM:300026 a owl:Class ; IAO:0000142 PMID:10932189, PMID:12116227, PMID:8789438 ; - oboInOwl:hasDbXref UMLS:C1417596 ; oboInOwl:hasExactSynonym "NAP1L2", "brain specific gene bpx", "nucleosome assembly protein 1-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4674 ; - skos:exactMatch HGNC_symbol:NAP1L2 ; + skos:exactMatch UMLS:C1417596, + HGNC:7638, + HGNC_symbol:NAP1L2 ; biolink:category biolink:Gene . OMIM:300027 a owl:Class ; rdfs:label "RBM3" ; IAO:0000142 PMID:25607368, PMID:8634703 ; - oboInOwl:hasDbXref UMLS:C1419299 ; oboInOwl:hasExactSynonym "RBM3", "rna-binding motif protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5935 ; - skos:exactMatch HGNC_symbol:RBM3 ; + skos:exactMatch UMLS:C1419299, + HGNC:9900, + HGNC_symbol:RBM3 ; biolink:category biolink:Gene . OMIM:300028 a owl:Class ; rdfs:label "ZRSR2" ; IAO:0000142 PMID:1946366, PMID:8586425 ; - oboInOwl:hasDbXref UMLS:C1824082 ; oboInOwl:hasExactSynonym "ZRSR2", "u2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2", "zinc finger-, ccch domain-, and rna-binding motif-containing serine/arginine-rich protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8233 ; - skos:exactMatch HGNC_symbol:ZRSR2 ; + skos:exactMatch UMLS:C1824082, + HGNC:23019, + HGNC_symbol:ZRSR2 ; biolink:category biolink:Gene . OMIM:300037 a owl:Class ; @@ -94265,15 +96388,16 @@ OMIM:300037 a owl:Class ; PMID:9950367 ; RO:0002525 CHR:9606chrXq26.2 ; RO:0003303 OMIM:194070 ; - oboInOwl:hasDbXref UMLS:C0796154, - UMLS:C1415195, - UMLS:C4016454 ; oboInOwl:hasExactSynonym "GPC3", "glypican 3", "oci-5, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2719 ; - skos:exactMatch HGNC_symbol:GPC3 ; + skos:exactMatch UMLS:C0796154, + UMLS:C1415195, + UMLS:C4016454, + HGNC:4451, + HGNC_symbol:GPC3 ; biolink:category biolink:Gene . OMIM:300038 a owl:Class ; @@ -94281,14 +96405,15 @@ OMIM:300038 a owl:Class ; IAO:0000142 PMID:11004484, PMID:8537335, PMID:8537336 ; - oboInOwl:hasDbXref UMLS:C1418220 ; oboInOwl:hasExactSynonym "P2RY4", "nucleotide receptor, uridine", "p2y4", "pyrimidinergic receptor p2y, g protein-coupled, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5030 ; - skos:exactMatch HGNC_symbol:P2RY4 ; + skos:exactMatch UMLS:C1418220, + HGNC:8542, + HGNC_symbol:P2RY4 ; biolink:category biolink:Gene . OMIM:300041 a owl:Class ; @@ -94297,7 +96422,6 @@ OMIM:300041 a owl:Class ; PMID:7831337, PMID:8023838, PMID:8838319 ; - oboInOwl:hasDbXref UMLS:C1415366 ; oboInOwl:hasExactSynonym "GUCY2F", "gc-f", "guanylate cyclase 2f, retinal", @@ -94305,16 +96429,18 @@ OMIM:300041 a owl:Class ; "retgc2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2986 ; - skos:exactMatch HGNC_symbol:GUCY2F ; + skos:exactMatch UMLS:C1415366, + HGNC:4691, + HGNC_symbol:GUCY2F ; biolink:category biolink:Gene . OMIM:300042 a owl:Class ; rdfs:label "alopecia, congenital" ; IAO:0000142 PMID:8569404 ; - oboInOwl:hasDbXref UMLS:C0265992 ; oboInOwl:hasExactSynonym "ALPC", "alopecia, congenital" ; - rdfs:subClassOf OMIMPS:203655 . + rdfs:subClassOf OMIMPS:203655 ; + skos:exactMatch UMLS:C0265992 . OMIM:300043 a owl:Class ; IAO:0100001 OMIM:611663 ; @@ -94324,14 +96450,15 @@ OMIM:300044 a owl:Class ; rdfs:label "TKTL1" ; IAO:0000142 PMID:8419340, PMID:8838793 ; - oboInOwl:hasDbXref UMLS:C1420751 ; oboInOwl:hasExactSynonym "TKTL1", "transketolase 2", "transketolase-like 1", "transketolase-related gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8277 ; - skos:exactMatch HGNC_symbol:TKTL1 ; + skos:exactMatch UMLS:C1420751, + HGNC:11835, + HGNC_symbol:TKTL1 ; biolink:category biolink:Gene . OMIM:300045 a owl:Class ; @@ -94352,27 +96479,28 @@ OMIM:300048 a owl:Class ; PMID:2309705, PMID:8644737, PMID:9279759 ; - oboInOwl:hasDbXref UMLS:C2746068, - UMLS:C3806579 ; oboInOwl:hasExactSynonym "ciip, X-linked", "congenital idiopathic intestinal pseudoobstruction", "congenital short bowel syndrome, X-linked", "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked", "intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement", "ipox" ; + skos:exactMatch UMLS:C2746068, + UMLS:C3806579 ; biolink:category biolink:Disease . OMIM:300050 a owl:Class ; rdfs:label "USP11" ; IAO:0000142 PMID:8845848, PMID:9931462 ; - oboInOwl:hasDbXref UMLS:C1421388 ; oboInOwl:hasExactSynonym "USP11", "ubiquitin carboxyl-terminal hydrolase, X-linked", "ubiquitin-specific protease 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8237 ; - skos:exactMatch HGNC_symbol:USP11 ; + skos:exactMatch UMLS:C1421388, + HGNC:12609, + HGNC_symbol:USP11 ; biolink:category biolink:Gene . OMIM:300051 a owl:Class ; @@ -94380,13 +96508,14 @@ OMIM:300051 a owl:Class ; IAO:0000142 PMID:8398137, PMID:8661015, PMID:9674909 ; - oboInOwl:hasDbXref UMLS:C1415204 ; oboInOwl:hasExactSynonym "GPM6B", "glycoprotein m6b", "neuronal membrane glycoprotein m6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2824 ; - skos:exactMatch HGNC_symbol:GPM6B ; + skos:exactMatch UMLS:C1415204, + HGNC:4461, + HGNC_symbol:GPM6B ; biolink:category biolink:Gene . OMIM:300052 a owl:Class ; @@ -94396,12 +96525,13 @@ OMIM:300052 a owl:Class ; PMID:22764250, PMID:26227883, PMID:8640231 ; - oboInOwl:hasDbXref UMLS:C1414154 ; oboInOwl:hasExactSynonym "DRP2", "dystrophin-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1821 ; - skos:exactMatch HGNC_symbol:DRP2 ; + skos:exactMatch UMLS:C1414154, + HGNC:3032, + HGNC_symbol:DRP2 ; biolink:category biolink:Gene . OMIM:300053 a owl:Class ; @@ -94418,13 +96548,14 @@ OMIM:300053 a owl:Class ; PMID:19138172, PMID:8640232, PMID:9614185 ; - oboInOwl:hasDbXref UMLS:C1420536 ; oboInOwl:hasExactSynonym "synaptobrevin-like 1", "tetanus neurotoxin-insensitive vamp", "vesicle-associated membrane protein 7: vamp7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6845 ; - skos:exactMatch HGNC_symbol:VAMP7 ; + skos:exactMatch UMLS:C1420536, + HGNC:11486, + HGNC_symbol:VAMP7 ; biolink:category biolink:Gene . OMIM:300056 a owl:Class ; @@ -94437,12 +96568,13 @@ OMIM:300056 a owl:Class ; PMID:9674913 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:309801 ; - oboInOwl:hasDbXref UMLS:C1415491 ; oboInOwl:hasExactSynonym "HCCS", "holocytochrome c synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3052 ; - skos:exactMatch HGNC_symbol:HCCS ; + skos:exactMatch UMLS:C1415491, + HGNC:4837, + HGNC_symbol:HCCS ; biolink:category biolink:Gene . OMIM:300057 a owl:Class ; @@ -94452,7 +96584,6 @@ OMIM:300057 a owl:Class ; OMIM:300059 a owl:Class ; rdfs:label "TMEM187" ; IAO:0000142 PMID:8786131 ; - oboInOwl:hasDbXref UMLS:C1422152 ; oboInOwl:hasExactSynonym "TMEM187", "chromosome 10 open reading frame 12", "dxs9878e", @@ -94460,7 +96591,9 @@ OMIM:300059 a owl:Class ; "transmembrane protein 187" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8269 ; - skos:exactMatch HGNC_symbol:TMEM187 ; + skos:exactMatch UMLS:C1422152, + HGNC:13705, + HGNC_symbol:TMEM187 ; biolink:category biolink:Gene . OMIM:300060 a owl:Class ; @@ -94470,14 +96603,15 @@ OMIM:300060 a owl:Class ; PMID:8786131 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:301006 ; - oboInOwl:hasDbXref UMLS:C1825785 ; oboInOwl:hasExactSynonym "LAGE3", "dxs9879e", "itba2 gene", "l antigen family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8270 ; - skos:exactMatch HGNC_symbol:LAGE3 ; + skos:exactMatch UMLS:C1825785, + HGNC:26058, + HGNC_symbol:LAGE3 ; biolink:category biolink:Gene . OMIM:300061 a owl:Class ; @@ -94487,14 +96621,15 @@ OMIM:300061 a owl:Class ; PMID:22011512, PMID:24721225, PMID:8817323 ; - oboInOwl:hasDbXref UMLS:C1823959 ; oboInOwl:hasExactSynonym "ZMYM3", "dxs6673e", "zinc finger protein 261", "zinc finger, mym-type 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9203 ; - skos:exactMatch HGNC_symbol:ZMYM3 ; + skos:exactMatch UMLS:C1823959, + HGNC:13054, + HGNC_symbol:ZMYM3 ; biolink:category biolink:Gene . OMIM:300063 a owl:Class ; @@ -94504,15 +96639,14 @@ OMIM:300063 a owl:Class ; OMIM:300064 a owl:Class ; rdfs:label "mental retardation, x-linked, with craniofacial dysmorphism" ; IAO:0000142 PMID:1433236 ; - oboInOwl:hasDbXref UMLS:C2931516 ; oboInOwl:hasExactSynonym "mental retardation, x-linked, hyde-forster iia", - "mental retardation, x-linked, with craniofacial dysmorphism" . + "mental retardation, x-linked, with craniofacial dysmorphism" ; + skos:exactMatch UMLS:C2931516 . OMIM:300065 a owl:Class ; rdfs:label "CENPI" ; IAO:0000142 PMID:7758824, PMID:8921378 ; - oboInOwl:hasDbXref UMLS:C1824700 ; oboInOwl:hasExactSynonym "CENPI", "centromeric protein 1", "fsh primary response, rat, homolog of, 1", @@ -94520,9 +96654,26 @@ OMIM:300065 a owl:Class ; "mis6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2491 ; - skos:exactMatch HGNC_symbol:CENPI ; + skos:exactMatch UMLS:C1824700, + HGNC:3968, + HGNC_symbol:CENPI ; biolink:category biolink:Gene . +OMIM:300066 a owl:Class ; + rdfs:label "deafness, X-linked 4" ; + IAO:0000142 PMID:18005182, + PMID:21549336, + PMID:21549342, + PMID:22911656, + PMID:8872482 ; + oboInOwl:hasExactSynonym "DFNX4", + "deafness, X-linked 4", + "deafness, X-linked 6, progressive", + "deafness, nonsyndromic sensorineural progressive 6" ; + rdfs:subClassOf OMIMPS:304500 ; + skos:exactMatch UMLS:C1848204 ; + biolink:category biolink:Disease . + OMIM:300070 a owl:Class ; rdfs:label "FGF13" ; IAO:0000142 PMID:10071193, @@ -94534,13 +96685,14 @@ OMIM:300070 a owl:Class ; PMID:9751161 ; RO:0002525 CHR:9606chrXq26.3-q27.1 ; RO:0003303 OMIM:301058 ; - oboInOwl:hasDbXref UMLS:C1414598 ; oboInOwl:hasExactSynonym "FGF13", "fibroblast growth factor 13", "fibroblast growth factor homologous factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2258 ; - skos:exactMatch HGNC_symbol:FGF13 ; + skos:exactMatch UMLS:C1414598, + HGNC:3670, + HGNC_symbol:FGF13 ; biolink:category biolink:Gene . OMIM:300072 a owl:Class ; @@ -94554,14 +96706,15 @@ OMIM:300072 a owl:Class ; PMID:8922996 ; RO:0002525 CHR:9606chrXp11.4 ; RO:0003303 OMIM:300968 ; - oboInOwl:hasDbXref UMLS:C1421409 ; oboInOwl:hasExactSynonym "USP9X", "drosophila fat facets-related, X-linked", "fam", "ubiquitin-specific protease 9, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8239 ; - skos:exactMatch HGNC_symbol:USP9X ; + skos:exactMatch UMLS:C1421409, + HGNC:12632, + HGNC_symbol:USP9X ; biolink:category biolink:Gene . OMIM:300073 a owl:Class ; @@ -94569,8 +96722,8 @@ OMIM:300073 a owl:Class ; IAO:0000142 PMID:2672815, PMID:3893126, PMID:9018412 ; - oboInOwl:hasDbXref UMLS:C1848171 ; - oboInOwl:hasExactSynonym "fetal akinesia syndrome, X-linked" . + oboInOwl:hasExactSynonym "fetal akinesia syndrome, X-linked" ; + skos:exactMatch UMLS:C1848171 . OMIM:300074 a owl:Class ; rdfs:label "XCE" ; @@ -94580,14 +96733,15 @@ OMIM:300074 a owl:Class ; PMID:16051795, PMID:16424298, PMID:8118102 ; - oboInOwl:hasDbXref UMLS:C1421530 ; oboInOwl:hasExactSynonym "XCE", "x chromosome-controlling element", "x inactivation intergenic transcription element", "xca" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7497 ; - skos:exactMatch HGNC_symbol:XCE ; + skos:exactMatch UMLS:C1421530, + HGNC:12804, + HGNC_symbol:XCE ; biolink:category biolink:Gene . OMIM:300075 a owl:Class ; @@ -94626,10 +96780,6 @@ OMIM:300075 a owl:Class ; PMID:9887375 ; RO:0002525 CHR:9606chrXp22.12 ; RO:0003303 OMIM:300844 ; - oboInOwl:hasDbXref UMLS:C0265252, - UMLS:C0796225, - UMLS:C1419744, - UMLS:C4016455 ; oboInOwl:hasExactSynonym "RPS6KA3", "ispk1", "mapkap kinase 1b", @@ -94639,7 +96789,12 @@ OMIM:300075 a owl:Class ; "ribosomal s6 kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6197 ; - skos:exactMatch HGNC_symbol:RPS6KA3 ; + skos:exactMatch UMLS:C0265252, + UMLS:C0796225, + UMLS:C1419744, + UMLS:C4016455, + HGNC:10432, + HGNC_symbol:RPS6KA3 ; biolink:category biolink:Gene . OMIM:300077 a owl:Class ; @@ -94656,14 +96811,15 @@ OMIM:300078 a owl:Class ; PMID:8938439 ; RO:0002525 CHR:9606chrXq24 ; RO:0003303 OMIM:301020 ; - oboInOwl:hasDbXref UMLS:C1417620 ; oboInOwl:hasExactSynonym "NDUFA1", "mwfe, b. taurus, homolog of", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex 1", "nadh-ubiquinone oxidoreductase subunit a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4694 ; - skos:exactMatch HGNC_symbol:NDUFA1 ; + skos:exactMatch UMLS:C1417620, + HGNC:7683, + HGNC_symbol:NDUFA1 ; biolink:category biolink:Gene . OMIM:300079 a owl:Class ; @@ -94698,7 +96854,6 @@ OMIM:300079 a owl:Class ; PMID:9230442 ; RO:0002525 CHR:9606chrXq25 ; RO:0003303 OMIM:300635 ; - oboInOwl:hasDbXref UMLS:C1337109 ; oboInOwl:hasExactSynonym "XIAP", "apoptosis inhibitor 3", "baculoviral iap repeat-containing protein 4", @@ -94707,7 +96862,9 @@ OMIM:300079 a owl:Class ; "mammalian iap homolog a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:331 ; - skos:exactMatch HGNC_symbol:XIAP ; + skos:exactMatch UMLS:C1337109, + HGNC:592, + HGNC_symbol:XIAP ; biolink:category biolink:Gene . OMIM:300080 a owl:Class ; @@ -94722,15 +96879,16 @@ OMIM:300080 a owl:Class ; PMID:8808293 ; RO:0002525 CHR:9606chrXp11.3 ; RO:0003303 OMIM:311900 ; - oboInOwl:hasDbXref UMLS:C1419296, - UMLS:C1839463 ; oboInOwl:hasExactSynonym "RBM10", "dxs8237e", "rna-binding motif protein 10", "rna-binding protein s1-1, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8241 ; - skos:exactMatch HGNC_symbol:RBM10 ; + skos:exactMatch UMLS:C1419296, + UMLS:C1839463, + HGNC:9896, + HGNC_symbol:RBM10 ; biolink:category biolink:Gene . OMIM:300084 a owl:Class ; @@ -94751,8 +96909,6 @@ OMIM:300084 a owl:Class ; PMID:9393982 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:300967 ; - oboInOwl:hasDbXref UMLS:C1417758, - UMLS:C3279505 ; oboInOwl:hasExactSynonym "NONO", "non-pou domain-containing octamer-binding protein", "nono/tfe3 fusion gene", @@ -94761,7 +96917,10 @@ OMIM:300084 a owl:Class ; "p54nrb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4841 ; - skos:exactMatch HGNC_symbol:NONO ; + skos:exactMatch UMLS:C1417758, + UMLS:C3279505, + HGNC:7871, + HGNC_symbol:NONO ; biolink:category biolink:Gene . OMIM:300086 a owl:Class ; @@ -94770,7 +96929,6 @@ OMIM:300086 a owl:Class ; PMID:12724320, PMID:9073069, PMID:9223435 ; - oboInOwl:hasDbXref UMLS:C1415216 ; oboInOwl:hasExactSynonym "LPAR4", "g protein-coupled receptor 23", "lpa4", @@ -94779,7 +96937,9 @@ OMIM:300086 a owl:Class ; "purinergic receptor p2y, g protein-coupled, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2846 ; - skos:exactMatch HGNC_symbol:LPAR4 ; + skos:exactMatch UMLS:C1415216, + HGNC:4478, + HGNC_symbol:LPAR4 ; biolink:category biolink:Gene . OMIM:300089 a owl:Class ; @@ -94787,13 +96947,14 @@ OMIM:300089 a owl:Class ; IAO:0000142 PMID:9286695, PMID:9311743, PMID:9883725 ; - oboInOwl:hasDbXref UMLS:C1415880 ; oboInOwl:hasExactSynonym "IDH3G", "isocitrate dehydrogenase 3, gamma subunit", "isocitrate dehydrogenase, nad(+)-specific, mitochondrial, gamma subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3421 ; - skos:exactMatch HGNC_symbol:IDH3G ; + skos:exactMatch UMLS:C1415880, + HGNC:5386, + HGNC_symbol:IDH3G ; biolink:category biolink:Gene . OMIM:300090 a owl:Class ; @@ -94803,13 +96964,14 @@ OMIM:300090 a owl:Class ; PMID:9286695 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300934 ; - oboInOwl:hasDbXref UMLS:C1420431 ; oboInOwl:hasExactSynonym "SSR4", "signal sequence receptor, delta", "translocon-associated protein, delta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6748 ; - skos:exactMatch HGNC_symbol:SSR4 ; + skos:exactMatch UMLS:C1420431, + HGNC:11326, + HGNC_symbol:SSR4 ; biolink:category biolink:Gene . OMIM:300091 a owl:Class ; @@ -94817,13 +96979,14 @@ OMIM:300091 a owl:Class ; IAO:0000142 PMID:11175849, PMID:9205122, PMID:9435229 ; - oboInOwl:hasDbXref UMLS:C1414615 ; oboInOwl:hasExactSynonym "FIGF", "fos-induced growth factor", "vascular endothelial growth factor d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2277 ; - skos:exactMatch HGNC_symbol:VEGFD ; + skos:exactMatch UMLS:C1414615, + HGNC:3708, + HGNC_symbol:VEGFD ; biolink:category biolink:Gene . OMIM:300092 a owl:Class ; @@ -94831,13 +96994,14 @@ OMIM:300092 a owl:Class ; IAO:0000142 PMID:16382448, PMID:19098318, PMID:9268643 ; - oboInOwl:hasDbXref UMLS:C1413831 ; oboInOwl:hasExactSynonym "TEX28", "chromosome 10 open reading frame 2", "testis-expressed gene 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1527 ; - skos:exactMatch HGNC_symbol:TEX28 ; + skos:exactMatch UMLS:C1413831, + HGNC:2563, + HGNC_symbol:TEX28 ; biolink:category biolink:Gene . OMIM:300093 a owl:Class ; @@ -94846,13 +97010,14 @@ OMIM:300093 a owl:Class ; PMID:10804200, PMID:9039914, PMID:9339354 ; - oboInOwl:hasDbXref UMLS:C1414918 ; oboInOwl:hasExactSynonym "GABRE", "gaba-a receptor, epsilon polypeptide", "gamma-aminobutyric acid receptor, epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2564 ; - skos:exactMatch HGNC_symbol:GABRE ; + skos:exactMatch UMLS:C1414918, + HGNC:4085, + HGNC_symbol:GABRE ; biolink:category biolink:Gene . OMIM:300094 a owl:Class ; @@ -94863,13 +97028,14 @@ OMIM:300107 a owl:Class ; rdfs:label "BRS3" ; IAO:0000142 PMID:8131855, PMID:8383682 ; - oboInOwl:hasDbXref UMLS:C1332451 ; oboInOwl:hasExactSynonym "BRS3", "bombesin receptor subtype 3", "bombesin-like receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:680 ; - skos:exactMatch HGNC_symbol:BRS3 ; + skos:exactMatch UMLS:C1332451, + HGNC:1113, + HGNC_symbol:BRS3 ; biolink:category biolink:Gene . OMIM:300108 a owl:Class ; @@ -94886,7 +97052,6 @@ OMIM:300108 a owl:Class ; PMID:9497258 ; RO:0002525 CHR:9606chrXq21.33 ; RO:0003303 OMIM:300511 ; - oboInOwl:hasDbXref UMLS:C1414048 ; oboInOwl:hasExactSynonym "DIAPH2", "dia", "dia2", @@ -94894,7 +97059,9 @@ OMIM:300108 a owl:Class ; "diaphanous-related formin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1730 ; - skos:exactMatch HGNC_symbol:DIAPH2 ; + skos:exactMatch UMLS:C1414048, + HGNC:2877, + HGNC_symbol:DIAPH2 ; biolink:category biolink:Gene . OMIM:300109 a owl:Class ; @@ -94902,13 +97069,14 @@ OMIM:300109 a owl:Class ; IAO:0000142 PMID:11713293, PMID:9215685, PMID:9402977 ; - oboInOwl:hasDbXref UMLS:C1418783 ; oboInOwl:hasExactSynonym "PPEF1", "protein phosphatase, ef-hand calcium-binding domain 1", "protein phosphatase, serine/threonine type, with ef-hand motifs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5475 ; - skos:exactMatch HGNC_symbol:PPEF1 ; + skos:exactMatch UMLS:C1418783, + HGNC:9243, + HGNC_symbol:PPEF1 ; biolink:category biolink:Gene . OMIM:300110 a owl:Class ; @@ -94936,12 +97104,13 @@ OMIM:300110 a owl:Class ; PMID:9662400 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300071 ; - oboInOwl:hasDbXref UMLS:C1413060 ; oboInOwl:hasExactSynonym "CACNA1F", "calcium channel, voltage-dependent, alpha-1f subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:778 ; - skos:exactMatch HGNC_symbol:CACNA1F ; + skos:exactMatch UMLS:C1413060, + HGNC:1393, + HGNC_symbol:CACNA1F ; biolink:category biolink:Gene . OMIM:300111 a owl:Class ; @@ -94950,7 +97119,6 @@ OMIM:300111 a owl:Class ; PMID:9344658 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:308905 ; - oboInOwl:hasDbXref UMLS:C1416884 ; oboInOwl:hasExactSynonym "PRICKLE3", "lim domain only 6", "prickle planar cell polarity protein 3", @@ -94958,7 +97126,9 @@ OMIM:300111 a owl:Class ; "prickle-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4007 ; - skos:exactMatch HGNC_symbol:PRICKLE3 ; + skos:exactMatch UMLS:C1416884, + HGNC:6645, + HGNC_symbol:PRICKLE3 ; biolink:category biolink:Gene . OMIM:300112 a owl:Class ; @@ -94967,25 +97137,27 @@ OMIM:300112 a owl:Class ; PMID:26512060, PMID:8470895, PMID:9344658 ; - oboInOwl:hasDbXref UMLS:C1418655 ; oboInOwl:hasExactSynonym "PLP2", "differentiation-dependent protein a4", "proteolipid protein 2", "proteolipid protein, colonic epithelium-enriched" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5355 ; - skos:exactMatch HGNC_symbol:PLP2 ; + skos:exactMatch UMLS:C1418655, + HGNC:9087, + HGNC_symbol:PLP2 ; biolink:category biolink:Gene . OMIM:300117 a owl:Class ; rdfs:label "NAP1L3" ; IAO:0000142 PMID:8976385 ; - oboInOwl:hasDbXref UMLS:C1417597 ; oboInOwl:hasExactSynonym "NAP1L3", "nucleosome assembly protein 1-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4675 ; - skos:exactMatch HGNC_symbol:NAP1L3 ; + skos:exactMatch UMLS:C1417597, + HGNC:7639, + HGNC_symbol:NAP1L3 ; biolink:category biolink:Gene . OMIM:300120 a owl:Class ; @@ -94996,14 +97168,15 @@ OMIM:300120 a owl:Class ; PMID:9169146 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300758 ; - oboInOwl:hasDbXref UMLS:C1413834 ; oboInOwl:hasExactSynonym "MAMLD1", "chromosome 10 open reading frame 6", "f18 gene", "mastermind-like domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10046 ; - skos:exactMatch HGNC_symbol:MAMLD1 ; + skos:exactMatch UMLS:C1413834, + HGNC:2568, + HGNC_symbol:MAMLD1 ; biolink:category biolink:Gene . OMIM:300121 a owl:Class ; @@ -95039,15 +97212,16 @@ OMIM:300121 a owl:Class ; PMID:9989615 ; RO:0002525 CHR:9606chrXq23 ; RO:0003303 OMIM:300067 ; - oboInOwl:hasDbXref UMLS:C1413938, - UMLS:C1848070, - UMLS:C4551968 ; oboInOwl:hasExactSynonym "DCX", "dbcn", "doublecortin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1641 ; - skos:exactMatch HGNC_symbol:DCX ; + skos:exactMatch UMLS:C1413938, + UMLS:C1848070, + UMLS:C4551968, + HGNC:2714, + HGNC_symbol:DCX ; biolink:category biolink:Gene . OMIM:300122 a owl:Class ; @@ -95063,25 +97237,26 @@ OMIM:300123 a owl:Class ; PMID:8826446, PMID:9106538, PMID:9508246 ; - oboInOwl:hasDbXref UMLS:C1848068, - UMLS:C2678223 ; oboInOwl:hasExactSynonym "intellectual developmental disorder, x-linked, with isolated growth hormone deficiency", "intellectual developmental disorder, x-linked, with panhypopituitarism", "mental retardation, x-linked, with isolated growth hormone deficiency", "mental retardation, x-linked, with panhypopituitarism" ; + skos:exactMatch UMLS:C1848068, + UMLS:C2678223 ; biolink:category biolink:Disease . OMIM:300124 a owl:Class ; rdfs:label "GTPBP6" ; IAO:0000142 PMID:9186508, PMID:9466997 ; - oboInOwl:hasDbXref UMLS:C1539624 ; oboInOwl:hasExactSynonym "GTPBP6", "gtp-binding protein 6", "pseudoautosomal gtp-binding protein-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8225 ; - skos:exactMatch HGNC_symbol:GTPBP6 ; + skos:exactMatch UMLS:C1539624, + HGNC:30189, + HGNC_symbol:GTPBP6 ; biolink:category biolink:Gene . OMIM:300126 a owl:Class ; @@ -95120,13 +97295,14 @@ OMIM:300126 a owl:Class ; PMID:9888995 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:305000 ; - oboInOwl:hasDbXref UMLS:C1414056 ; oboInOwl:hasExactSynonym "DKC1", "dyskerin", "nopp140-associated protein, 57-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1736 ; - skos:exactMatch HGNC_symbol:DKC1 ; + skos:exactMatch UMLS:C1414056, + HGNC:2890, + HGNC_symbol:DKC1 ; biolink:category biolink:Gene . OMIM:300127 a owl:Class ; @@ -95145,13 +97321,14 @@ OMIM:300127 a owl:Class ; PMID:9582072 ; RO:0002525 CHR:9606chrXq12 ; RO:0003303 OMIM:300486 ; - oboInOwl:hasDbXref UMLS:C1417960 ; oboInOwl:hasExactSynonym "OPHN1", "oligophrenin 1", "opn1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4983 ; - skos:exactMatch HGNC_symbol:OPHN1 ; + skos:exactMatch UMLS:C1417960, + HGNC:8148, + HGNC_symbol:OPHN1 ; biolink:category biolink:Gene . OMIM:300128 a owl:Class ; @@ -95176,14 +97353,15 @@ OMIM:300128 a owl:Class ; PMID:9499428 ; RO:0002525 CHR:9606chrXp11.3 ; RO:0003303 OMIM:300867 ; - oboInOwl:hasDbXref UMLS:C1421414 ; oboInOwl:hasExactSynonym "KDM6A", "lysine demethylase 6a", "lysine-specific demethylase 6a", "ubiquitously transcribed tetratricopeptide repeat gene on 10 chromosome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7403 ; - skos:exactMatch HGNC_symbol:KDM6A ; + skos:exactMatch UMLS:C1421414, + HGNC:12637, + HGNC_symbol:KDM6A ; biolink:category biolink:Gene . OMIM:300129 a owl:Class ; @@ -95198,8 +97376,8 @@ OMIM:300129 a owl:Class ; PMID:9217198, PMID:9332303, PMID:9520458 ; - oboInOwl:hasDbXref UMLS:C1848046 ; - oboInOwl:hasExactSynonym "hematopoietic stem cell kinetics, control of" . + oboInOwl:hasExactSynonym "hematopoietic stem cell kinetics, control of" ; + skos:exactMatch UMLS:C1848046 . OMIM:300130 a owl:Class ; rdfs:label "IL13RA2" ; @@ -95210,12 +97388,13 @@ OMIM:300130 a owl:Class ; PMID:20962845, PMID:8663118, PMID:9177784 ; - oboInOwl:hasDbXref UMLS:C1416386 ; oboInOwl:hasExactSynonym "IL13RA2", "interleukin 13 receptor, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3598 ; - skos:exactMatch HGNC_symbol:IL13RA2 ; + skos:exactMatch UMLS:C1416386, + HGNC:5975, + HGNC_symbol:IL13RA2 ; biolink:category biolink:Gene . OMIM:300131 a owl:Class ; @@ -95230,13 +97409,14 @@ OMIM:300131 a owl:Class ; PMID:8428952 ; RO:0002525 CHR:9606chrXq23 ; RO:0003303 OMIM:300910 ; - oboInOwl:hasDbXref UMLS:C1418658 ; oboInOwl:hasExactSynonym "PLS3", "plastin 3", "t-plastin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5358 ; - skos:exactMatch HGNC_symbol:PLS3 ; + skos:exactMatch UMLS:C1418658, + HGNC:9091, + HGNC_symbol:PLS3 ; biolink:category biolink:Gene . OMIM:300132 a owl:Class ; @@ -95244,13 +97424,14 @@ OMIM:300132 a owl:Class ; IAO:0000142 PMID:10026108, PMID:7758945, PMID:9533028 ; - oboInOwl:hasDbXref UMLS:C1421163 ; oboInOwl:hasExactSynonym "TRO", "melanoma antigen, family d, 3", "trophinin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7216 ; - skos:exactMatch HGNC_symbol:TRO ; + skos:exactMatch UMLS:C1421163, + HGNC:12326, + HGNC_symbol:TRO ; biolink:category biolink:Gene . OMIM:300133 a owl:Class ; @@ -95260,13 +97441,14 @@ OMIM:300133 a owl:Class ; PMID:8968748, PMID:9339366, PMID:9931330 ; - oboInOwl:hasDbXref UMLS:C1421434 ; oboInOwl:hasExactSynonym "VBP1", "prefoldin 3", "von hippel-lindau binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7411 ; - skos:exactMatch HGNC_symbol:VBP1 ; + skos:exactMatch UMLS:C1421434, + HGNC:12662, + HGNC_symbol:VBP1 ; biolink:category biolink:Gene . OMIM:300134 a owl:Class ; @@ -95274,13 +97456,14 @@ OMIM:300134 a owl:Class ; IAO:0000142 PMID:18296638, PMID:19228121, PMID:9030581 ; - oboInOwl:hasDbXref UMLS:C1414191 ; oboInOwl:hasExactSynonym "DUSP9", "dual-specificity phosphatase 9", "map kinase phosphatase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1852 ; - skos:exactMatch HGNC_symbol:DUSP9 ; + skos:exactMatch UMLS:C1414191, + HGNC:3076, + HGNC_symbol:DUSP9 ; biolink:category biolink:Gene . OMIM:300137 a owl:Class ; @@ -95296,14 +97479,15 @@ OMIM:300137 a owl:Class ; PMID:9729118 ; RO:0002525 CHR:9606chrXq26.1 ; RO:0003303 OMIM:300888 ; - oboInOwl:hasDbXref UMLS:C1416370 ; oboInOwl:hasExactSynonym "IGSF1", "immunoglobulin superfamily, member 1", "immunoglobulin-like domain-containing 1", "inhibin-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3547 ; - skos:exactMatch HGNC_symbol:IGSF1 ; + skos:exactMatch UMLS:C1416370, + HGNC:5948, + HGNC_symbol:IGSF1 ; biolink:category biolink:Gene . OMIM:300138 a owl:Class ; @@ -95316,13 +97500,14 @@ OMIM:300138 a owl:Class ; PMID:9339381 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300886 ; - oboInOwl:hasDbXref UMLS:C1413485 ; oboInOwl:hasExactSynonym "CLIC2", "chloride intracellular channel 2", "xap121" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1193 ; - skos:exactMatch HGNC_symbol:CLIC2 ; + skos:exactMatch UMLS:C1413485, + HGNC:2063, + HGNC_symbol:CLIC2 ; biolink:category biolink:Gene . OMIM:300139 a owl:Class ; @@ -95335,14 +97520,15 @@ OMIM:300139 a owl:Class ; PMID:9441740 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:300472 ; - oboInOwl:hasDbXref UMLS:C1334087 ; oboInOwl:hasExactSynonym "IGBP1", "alpha-4", "immunoglobulin-binding protein 1", "protein phosphatase 2a, regulatory subunit alpha-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3476 ; - skos:exactMatch HGNC_symbol:IGBP1 ; + skos:exactMatch UMLS:C1334087, + HGNC:5461, + HGNC_symbol:IGBP1 ; biolink:category biolink:Gene . OMIM:300142 a owl:Class ; @@ -95364,14 +97550,15 @@ OMIM:300142 a owl:Class ; PMID:9731525 ; RO:0002525 CHR:9606chrXq23 ; RO:0003303 OMIM:300558 ; - oboInOwl:hasDbXref UMLS:C1418261 ; oboInOwl:hasExactSynonym "PAK3", "oligophrenin 3", "p21 cdc42/rac1-activated kinase 3", "p21 protein-activated kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5063 ; - skos:exactMatch HGNC_symbol:PAK3 ; + skos:exactMatch UMLS:C1418261, + HGNC:8592, + HGNC_symbol:PAK3 ; biolink:category biolink:Gene . OMIM:300145 a owl:Class ; @@ -95385,26 +97572,28 @@ OMIM:300145 a owl:Class ; PMID:9628831 ; RO:0002525 CHR:9606chrXq26.1 ; RO:0003303 OMIM:300909 ; - oboInOwl:hasDbXref UMLS:C1421543 ; oboInOwl:hasExactSynonym "XPNPEP2", "aminopeptidase p, 2", "x-prolyl aminopeptidase 2", "x-prolyl aminopeptidase, membrane-bound" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7512 ; - skos:exactMatch HGNC_symbol:XPNPEP2 ; + skos:exactMatch UMLS:C1421543, + HGNC:12823, + HGNC_symbol:XPNPEP2 ; biolink:category biolink:Gene . OMIM:300146 a owl:Class ; rdfs:label "CAPN6" ; IAO:0000142 PMID:9339374, PMID:9503024 ; - oboInOwl:hasDbXref UMLS:C1413116 ; oboInOwl:hasExactSynonym "CAPN6", "calpain 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:827 ; - skos:exactMatch HGNC_symbol:CAPN6 ; + skos:exactMatch UMLS:C1413116, + HGNC:1483, + HGNC_symbol:CAPN6 ; biolink:category biolink:Gene . OMIM:300150 a owl:Class ; @@ -95416,7 +97605,6 @@ OMIM:300150 a owl:Class ; PMID:2168878, PMID:3031073, PMID:7713517 ; - oboInOwl:hasDbXref UMLS:C1335834 ; oboInOwl:hasExactSynonym "SLC25A5", "adenine nucleotide translocator 2", "adp/atp carrier 2", @@ -95425,7 +97613,9 @@ OMIM:300150 a owl:Class ; "solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member a5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:292 ; - skos:exactMatch HGNC_symbol:SLC25A5 ; + skos:exactMatch UMLS:C1335834, + HGNC:10991, + HGNC_symbol:SLC25A5 ; biolink:category biolink:Gene . OMIM:300151 a owl:Class ; @@ -95435,7 +97625,6 @@ OMIM:300151 a owl:Class ; PMID:7814020, PMID:8486369, PMID:8490661 ; - oboInOwl:hasDbXref UMLS:C1335835 ; oboInOwl:hasExactSynonym "SLC25A6", "adenine nucleotide translocator 3", "adp/atp carrier 3", @@ -95444,31 +97633,35 @@ OMIM:300151 a owl:Class ; "solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member a6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:293 ; - skos:exactMatch HGNC_symbol:SLC25A6 ; + skos:exactMatch UMLS:C1335835, + HGNC:10992, + HGNC_symbol:SLC25A6 ; biolink:category biolink:Gene . OMIM:300152 a owl:Class ; rdfs:label "MAGEB3" ; IAO:0000142 PMID:15772651, PMID:9441743 ; - oboInOwl:hasDbXref UMLS:C1416983 ; oboInOwl:hasExactSynonym "MAGEB3", "melanoma antigen, family b, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4114 ; - skos:exactMatch HGNC_symbol:MAGEB3 ; + skos:exactMatch UMLS:C1416983, + HGNC:6810, + HGNC_symbol:MAGEB3 ; biolink:category biolink:Gene . OMIM:300153 a owl:Class ; rdfs:label "MAGEB4" ; IAO:0000142 PMID:15772651, PMID:9441743 ; - oboInOwl:hasDbXref UMLS:C1416984 ; oboInOwl:hasExactSynonym "MAGEB4", "melanoma antigen, family b, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4115 ; - skos:exactMatch HGNC_symbol:MAGEB4 ; + skos:exactMatch UMLS:C1416984, + HGNC:6811, + HGNC_symbol:MAGEB4 ; biolink:category biolink:Gene . OMIM:300154 a owl:Class ; @@ -95478,14 +97671,15 @@ OMIM:300154 a owl:Class ; PMID:9245514, PMID:9256347, PMID:9806555 ; - oboInOwl:hasDbXref UMLS:C1825069 ; oboInOwl:hasExactSynonym "ESX1L", "esx1-like protein", "esx1-related protein 1", "extraembryonic, spermatogenesis, homeobox 1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80712 ; - skos:exactMatch HGNC_symbol:ESX1 ; + skos:exactMatch UMLS:C1825069, + HGNC:14865, + HGNC_symbol:ESX1 ; biolink:category biolink:Gene . OMIM:300156 a owl:Class ; @@ -95500,7 +97694,6 @@ OMIM:300156 a owl:Class ; PMID:9050879, PMID:9605863, PMID:9626360 ; - oboInOwl:hasDbXref UMLS:C1413787 ; oboInOwl:hasExactSynonym "CTAG1B", "cancer/testis antigen 1", "cancer/testis antigen 1b", @@ -95511,7 +97704,9 @@ OMIM:300156 a owl:Class ; "new york esophageal squamous cell carcinoma 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1485 ; - skos:exactMatch HGNC_symbol:CTAG1B ; + skos:exactMatch UMLS:C1413787, + HGNC:2491, + HGNC_symbol:CTAG1B ; biolink:category biolink:Gene . OMIM:300160 a owl:Class ; @@ -95532,8 +97727,6 @@ OMIM:300160 a owl:Class ; PMID:9730595 ; RO:0002525 CHR:9606chrXp11.4 ; RO:0003303 OMIM:300958 ; - oboInOwl:hasDbXref UMLS:C1413962, - UMLS:C5393299 ; oboInOwl:hasExactSynonym "DDX3X", "dbx", "ddx3", @@ -95541,7 +97734,10 @@ OMIM:300160 a owl:Class ; "dead/h-box 3, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1654 ; - skos:exactMatch HGNC_symbol:DDX3X ; + skos:exactMatch UMLS:C1413962, + UMLS:C5393299, + HGNC:2745, + HGNC_symbol:DDX3X ; biolink:category biolink:Gene . OMIM:300161 a owl:Class ; @@ -95554,13 +97750,14 @@ OMIM:300161 a owl:Class ; PMID:9781023 ; RO:0002525 CHR:9606chrXp22.11 ; RO:0003303 OMIM:300148 ; - oboInOwl:hasDbXref UMLS:C1414336 ; oboInOwl:hasExactSynonym "EIF2S3", "eukaryotic translation initiation factor 2, gamma", "eukaryotic translation initiation factor 2, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1968 ; - skos:exactMatch HGNC_symbol:EIF2S3 ; + skos:exactMatch UMLS:C1414336, + HGNC:3267, + HGNC_symbol:EIF2S3 ; biolink:category biolink:Gene . OMIM:300162 a owl:Class ; @@ -95568,35 +97765,38 @@ OMIM:300162 a owl:Class ; IAO:0000142 PMID:8225310, PMID:9381176, PMID:9736779 ; - oboInOwl:hasDbXref UMLS:C1412586 ; oboInOwl:hasExactSynonym "ASMTL", "acetylserotonin methyltransferase-like", "acetylserotonin methyltransferase-like, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8623 ; - skos:exactMatch HGNC_symbol:ASMTL ; + skos:exactMatch UMLS:C1412586, + HGNC:751, + HGNC_symbol:ASMTL ; biolink:category biolink:Gene . OMIM:300164 a owl:Class ; rdfs:label "INE1" ; IAO:0000142 PMID:9244435 ; - oboInOwl:hasDbXref UMLS:C1416434 ; oboInOwl:hasExactSynonym "INE1", "inactivation escape 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8552 ; - skos:exactMatch HGNC_symbol:INE1 ; + skos:exactMatch UMLS:C1416434, + HGNC:6060, + HGNC_symbol:INE1 ; biolink:category biolink:Gene . OMIM:300165 a owl:Class ; rdfs:label "INE2" ; IAO:0000142 PMID:9244435 ; - oboInOwl:hasDbXref UMLS:C1416435 ; oboInOwl:hasExactSynonym "INE2", "inactivation escape 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8551 ; - skos:exactMatch HGNC_symbol:INE2 ; + skos:exactMatch UMLS:C1416435, + HGNC:6061, + HGNC_symbol:INE2 ; biolink:category biolink:Gene . OMIM:300167 a owl:Class ; @@ -95607,12 +97807,13 @@ OMIM:300167 a owl:Class ; PMID:874373, PMID:9503013, PMID:9988272 ; - oboInOwl:hasDbXref UMLS:C1415510 ; oboInOwl:hasExactSynonym "HEPH", "hephaestin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9843 ; - skos:exactMatch HGNC_symbol:HEPH ; + skos:exactMatch UMLS:C1415510, + HGNC:4866, + HGNC_symbol:HEPH ; biolink:category biolink:Gene . OMIM:300168 a owl:Class ; @@ -95628,13 +97829,14 @@ OMIM:300168 a owl:Class ; PMID:9931407 ; RO:0002525 CHR:9606chrXq26.2 ; RO:0003303 OMIM:301026 ; - oboInOwl:hasDbXref UMLS:C1415196, - UMLS:C1850627 ; oboInOwl:hasExactSynonym "GPC4", "glypican 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2239 ; - skos:exactMatch HGNC_symbol:GPC4 ; + skos:exactMatch UMLS:C1415196, + UMLS:C1850627, + HGNC:4452, + HGNC_symbol:GPC4 ; biolink:category biolink:Gene . OMIM:300169 a owl:Class ; @@ -95667,19 +97869,20 @@ OMIM:300169 a owl:Class ; PMID:9989411 ; RO:0002525 CHR:9606chrXq26.1 ; RO:0003303 OMIM:300232 ; - oboInOwl:hasDbXref UMLS:C0795910, - UMLS:C1826618, - UMLS:C1845095, - UMLS:C1846148, - UMLS:C3151753, - UMLS:C5231520 ; oboInOwl:hasExactSynonym "AIFM1", "apoptosis-inducing factor", "apoptosis-inducing factor, mitochondria-associated, 1", "programmed cell death 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9131 ; - skos:exactMatch HGNC_symbol:AIFM1 ; + skos:exactMatch UMLS:C0795910, + UMLS:C1826618, + UMLS:C1845095, + UMLS:C1846148, + UMLS:C3151753, + UMLS:C5231520, + HGNC:8768, + HGNC_symbol:AIFM1 ; biolink:category biolink:Gene . OMIM:300170 a owl:Class ; @@ -95707,18 +97910,19 @@ OMIM:300170 a owl:Class ; PMID:9722947 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:300209 ; - oboInOwl:hasDbXref UMLS:C1413833, - UMLS:C1419610, - UMLS:C1510460, - UMLS:C1846175, - UMLS:C2749019 ; oboInOwl:hasExactSynonym "OFD1", "chromosome 10 open reading frame 5", "ofd1 centriole and centriolar satellite protein", "ofd1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8481 ; - skos:exactMatch HGNC_symbol:OFD1 ; + skos:exactMatch UMLS:C1413833, + UMLS:C1419610, + UMLS:C1510460, + UMLS:C1846175, + UMLS:C2749019, + HGNC:2567, + HGNC_symbol:OFD1 ; biolink:category biolink:Gene . OMIM:300172 a owl:Class ; @@ -95741,14 +97945,15 @@ OMIM:300172 a owl:Class ; PMID:9753324 ; RO:0002525 CHR:9606chrXp11.4 ; RO:0003303 OMIM:300422 ; - oboInOwl:hasDbXref UMLS:C1413128 ; oboInOwl:hasExactSynonym "CASK", "calcium/calmodulin-dependent serine protein kinase", "camguk, drosophila, homolog of", "vertebrate lin2 homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8573 ; - skos:exactMatch HGNC_symbol:CASK ; + skos:exactMatch UMLS:C1413128, + HGNC:1497, + HGNC_symbol:CASK ; biolink:category biolink:Gene . OMIM:300173 a owl:Class ; @@ -95757,14 +97962,15 @@ OMIM:300173 a owl:Class ; PMID:7927540, PMID:8276455, PMID:8575766 ; - oboInOwl:hasDbXref UMLS:C1416974 ; oboInOwl:hasExactSynonym "MAGEA2", "mage2", "magea2a", "melanoma antigen, family a, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4101 ; - skos:exactMatch HGNC_symbol:MAGEA2 ; + skos:exactMatch UMLS:C1416974, + HGNC:6800, + HGNC_symbol:MAGEA2 ; biolink:category biolink:Gene . OMIM:300174 a owl:Class ; @@ -95772,13 +97978,14 @@ OMIM:300174 a owl:Class ; IAO:0000142 PMID:15772651, PMID:7927540, PMID:8575766 ; - oboInOwl:hasDbXref UMLS:C0677907 ; oboInOwl:hasExactSynonym "MAGEA3", "mage3", "melanoma antigen, family a, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4102 ; - skos:exactMatch HGNC_symbol:MAGEA3 ; + skos:exactMatch UMLS:C0677907, + HGNC:6801, + HGNC_symbol:MAGEA3 ; biolink:category biolink:Gene . OMIM:300175 a owl:Class ; @@ -95787,7 +97994,6 @@ OMIM:300175 a owl:Class ; PMID:15772651, PMID:7927540, PMID:8575766 ; - oboInOwl:hasDbXref UMLS:C1416975 ; oboInOwl:hasExactSynonym "MAGEA4", "mage4", "mage4a", @@ -95795,7 +98001,9 @@ OMIM:300175 a owl:Class ; "melanoma antigen, family a, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4103 ; - skos:exactMatch HGNC_symbol:MAGEA4 ; + skos:exactMatch UMLS:C1416975, + HGNC:6802, + HGNC_symbol:MAGEA4 ; biolink:category biolink:Gene . OMIM:300176 a owl:Class ; @@ -95804,13 +98012,14 @@ OMIM:300176 a owl:Class ; PMID:23103869, PMID:7927540, PMID:8575766 ; - oboInOwl:hasDbXref UMLS:C1416977 ; oboInOwl:hasExactSynonym "MAGEA6", "mage6", "melanoma antigen, family a, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4105 ; - skos:exactMatch HGNC_symbol:MAGEA6 ; + skos:exactMatch UMLS:C1416977, + HGNC:6804, + HGNC_symbol:MAGEA6 ; biolink:category biolink:Gene . OMIM:300177 a owl:Class ; @@ -95818,13 +98027,14 @@ OMIM:300177 a owl:Class ; IAO:0000142 PMID:15772651, PMID:7927540, PMID:8575766 ; - oboInOwl:hasDbXref UMLS:C1416973 ; oboInOwl:hasExactSynonym "MAGEA12", "mage12", "melanoma antigen, family a, 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4111 ; - skos:exactMatch HGNC_symbol:MAGEA12 ; + skos:exactMatch UMLS:C1416973, + HGNC:6799, + HGNC_symbol:MAGEA12 ; biolink:category biolink:Gene . OMIM:300178 a owl:Class ; @@ -95834,7 +98044,6 @@ OMIM:300178 a owl:Class ; PMID:23533661, PMID:9872452, PMID:9887332 ; - oboInOwl:hasDbXref UMLS:C1412371 ; oboInOwl:hasExactSynonym "ZBED1", "ac-like transposable element", "bed-type zinc finger domain-containing protein 1", @@ -95844,7 +98053,9 @@ OMIM:300178 a owl:Class ; "zinc finger bed domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9189 ; - skos:exactMatch HGNC_symbol:ZBED1 ; + skos:exactMatch UMLS:C1412371, + HGNC:447, + HGNC_symbol:ZBED1 ; biolink:category biolink:Gene . OMIM:300180 a owl:Class ; @@ -95858,12 +98069,13 @@ OMIM:300180 a owl:Class ; PMID:9497243 ; RO:0002525 CHR:9606chrXp22.33 ; RO:0003303 OMIM:302950 ; - oboInOwl:hasDbXref UMLS:C1412558 ; oboInOwl:hasExactSynonym "ARSE", "arylsulfatase e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:415 ; - skos:exactMatch HGNC_symbol:ARSL ; + skos:exactMatch UMLS:C1412558, + HGNC:719, + HGNC_symbol:ARSL ; biolink:category biolink:Gene . OMIM:300181 a owl:Class ; @@ -95890,13 +98102,14 @@ OMIM:300181 a owl:Class ; PMID:19536159, PMID:21085182, PMID:9662396 ; - oboInOwl:hasDbXref UMLS:C1421204 ; oboInOwl:hasExactSynonym "TSIX", "x inactivation-specific transcript-antisense", "xist-antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9383 ; - skos:exactMatch HGNC_symbol:TSIX ; + skos:exactMatch UMLS:C1421204, + HGNC:12377, + HGNC_symbol:TSIX ; biolink:category biolink:Gene . OMIM:300182 a owl:Class ; @@ -95905,7 +98118,6 @@ OMIM:300182 a owl:Class ; PMID:8710870, PMID:9598311, PMID:9989412 ; - oboInOwl:hasDbXref UMLS:C1332781 ; oboInOwl:hasExactSynonym "MED14", "chromosome 10 open reading frame 4", "cofactor required for sp1 transcriptional activation, subunit 2", @@ -95916,7 +98128,9 @@ OMIM:300182 a owl:Class ; "thyroid hormone receptor-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9282 ; - skos:exactMatch HGNC_symbol:MED14 ; + skos:exactMatch UMLS:C1332781, + HGNC:2370, + HGNC_symbol:MED14 ; biolink:category biolink:Gene . OMIM:300183 a owl:Class ; @@ -95927,14 +98141,13 @@ OMIM:300184 a owl:Class ; rdfs:label "hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses" ; IAO:0000142 PMID:10068051, PMID:2690833 ; - oboInOwl:hasDbXref UMLS:C1970936 ; - oboInOwl:hasExactSynonym "hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses" . + oboInOwl:hasExactSynonym "hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses" ; + skos:exactMatch UMLS:C1970936 . OMIM:300185 a owl:Class ; rdfs:label "AKAP4" ; IAO:0000142 PMID:9514854, PMID:9822690 ; - oboInOwl:hasDbXref UMLS:C1412316 ; oboInOwl:hasExactSynonym "AKAP4", "a-kinase anchor protein 4", "a-kinase anchor protein, 82-kd", @@ -95942,21 +98155,24 @@ OMIM:300185 a owl:Class ; "testis-specific gene hi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8852 ; - skos:exactMatch HGNC_symbol:AKAP4 ; + skos:exactMatch UMLS:C1412316, + HGNC:374, + HGNC_symbol:AKAP4 ; biolink:category biolink:Gene . OMIM:300187 a owl:Class ; rdfs:label "SRPX" ; IAO:0000142 PMID:8634708, PMID:8634709 ; - oboInOwl:hasDbXref UMLS:C1420416 ; oboInOwl:hasExactSynonym "SRPX", "etx1", "srpx1", "sushi repeat-containing protein, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8406 ; - skos:exactMatch HGNC_symbol:SRPX ; + skos:exactMatch UMLS:C1420416, + HGNC:11309, + HGNC_symbol:SRPX ; biolink:category biolink:Gene . OMIM:300188 a owl:Class ; @@ -95987,10 +98203,6 @@ OMIM:300188 a owl:Class ; PMID:9702738 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:305450 ; - oboInOwl:hasDbXref UMLS:C0220769, - UMLS:C0796022, - UMLS:C1537677, - UMLS:C3698541 ; oboInOwl:hasExactSynonym "MED12", "human opposite paired gene", "kiaa0192", @@ -96000,7 +98212,12 @@ OMIM:300188 a owl:Class ; "trinucleotide repeat-containing gene 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9968 ; - skos:exactMatch HGNC_symbol:MED12 ; + skos:exactMatch UMLS:C0220769, + UMLS:C0796022, + UMLS:C1537677, + UMLS:C3698541, + HGNC:11957, + HGNC_symbol:MED12 ; biolink:category biolink:Gene . OMIM:300189 a owl:Class ; @@ -96012,7 +98229,6 @@ OMIM:300189 a owl:Class ; PMID:9598320 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:300850 ; - oboInOwl:hasDbXref UMLS:C1414065 ; oboInOwl:hasExactSynonym "DLG3", "discs large maguk scaffold protein 3", "discs large, drosophila, homolog of, 3", @@ -96020,32 +98236,36 @@ OMIM:300189 a owl:Class ; "synapse-associated protein 102" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1741 ; - skos:exactMatch HGNC_symbol:DLG3 ; + skos:exactMatch UMLS:C1414065, + HGNC:2902, + HGNC_symbol:DLG3 ; biolink:category biolink:Gene . OMIM:300190 a owl:Class ; rdfs:label "SH3BGRL" ; IAO:0000142 PMID:9642120 ; - oboInOwl:hasDbXref UMLS:C1420020 ; oboInOwl:hasExactSynonym "SH3BGRL", "sh3 domain-binding glutamic acid-rich protein-like protein", "sh3bgr-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6451 ; - skos:exactMatch HGNC_symbol:SH3BGRL ; + skos:exactMatch UMLS:C1420020, + HGNC:10823, + HGNC_symbol:SH3BGRL ; biolink:category biolink:Gene . OMIM:300191 a owl:Class ; rdfs:label "TSPAN6" ; IAO:0000142 PMID:9714763, PMID:9782095 ; - oboInOwl:hasDbXref UMLS:C1540086 ; oboInOwl:hasExactSynonym "TSPAN6", "tetraspanin 6", "transmembrane 4 superfamily, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7105 ; - skos:exactMatch HGNC_symbol:TSPAN6 ; + skos:exactMatch UMLS:C1540086, + HGNC:11858, + HGNC_symbol:TSPAN6 ; biolink:category biolink:Gene . OMIM:300193 a owl:Class ; @@ -96059,7 +98279,6 @@ OMIM:300193 a owl:Class ; PMID:9598312 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300915 ; - oboInOwl:hasDbXref UMLS:C1333910 ; oboInOwl:hasExactSynonym "HMGB3", "chromosomal protein, nonhistone, hmg4", "high mobility group box 3", @@ -96068,7 +98287,9 @@ OMIM:300193 a owl:Class ; "nonhistone chromosomal protein hmg4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3149 ; - skos:exactMatch HGNC_symbol:HMGB3 ; + skos:exactMatch UMLS:C1333910, + HGNC:5004, + HGNC_symbol:HMGB3 ; biolink:category biolink:Gene . OMIM:300194 a owl:Class ; @@ -96080,12 +98301,12 @@ OMIM:300194 a owl:Class ; PMID:9480748, PMID:9598718 ; RO:0002525 CHR:9606chrXq22.3 ; - oboInOwl:hasDbXref UMLS:C1846242, - ORPHA:86818 ; oboInOwl:hasExactSynonym "alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis", "amme complex", "ats-mr", "chromosome xq22.3 telomeric deletion syndrome" ; + skos:exactMatch UMLS:C1846242, + ORPHA:86818 ; biolink:category biolink:Disease . OMIM:300195 a owl:Class ; @@ -96098,13 +98319,14 @@ OMIM:300195 a owl:Class ; PMID:9598718 ; RO:0002525 CHR:9606chrXq23 ; RO:0003303 OMIM:300990 ; - oboInOwl:hasDbXref UMLS:C1412386 ; oboInOwl:hasExactSynonym "AMMECR1", "amme chromosome region gene 1", "ammecr nuclear protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9949 ; - skos:exactMatch HGNC_symbol:AMMECR1 ; + skos:exactMatch UMLS:C1412386, + HGNC:467, + HGNC_symbol:AMMECR1 ; biolink:category biolink:Gene . OMIM:300196 a owl:Class ; @@ -96122,14 +98344,15 @@ OMIM:300196 a owl:Class ; PMID:9880679 ; RO:0002525 CHR:9606chrXp22.31-p22.2 ; RO:0003303 OMIM:301033 ; - oboInOwl:hasDbXref UMLS:C1420599 ; oboInOwl:hasExactSynonym "TBL1X", "ebi, drosophila, homolog of", "transducin-beta-like 1", "transducin-beta-like 1, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6907 ; - skos:exactMatch HGNC_symbol:TBL1X ; + skos:exactMatch UMLS:C1420599, + HGNC:11585, + HGNC_symbol:TBL1X ; biolink:category biolink:Gene . OMIM:300197 a owl:Class ; @@ -96148,8 +98371,6 @@ OMIM:300197 a owl:Class ; PMID:8733135 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300972 ; - oboInOwl:hasDbXref UMLS:C1412687, - UMLS:C4310819 ; oboInOwl:hasExactSynonym "ATP6AP1", "ac45", "atp6ip1", @@ -96158,7 +98379,10 @@ OMIM:300197 a owl:Class ; "vacuolar atpase subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:537 ; - skos:exactMatch HGNC_symbol:ATP6AP1 ; + skos:exactMatch UMLS:C1412687, + UMLS:C4310819, + HGNC:868, + HGNC_symbol:ATP6AP1 ; biolink:category biolink:Gene . OMIM:300198 a owl:Class ; @@ -96166,13 +98390,14 @@ OMIM:300198 a owl:Class ; IAO:0000142 PMID:24100632, PMID:9346895, PMID:9857012 ; - oboInOwl:hasDbXref UMLS:C1415372 ; oboInOwl:hasExactSynonym "GYG2", "glycogenin 2", "gn2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8908 ; - skos:exactMatch HGNC_symbol:GYG2 ; + skos:exactMatch UMLS:C1415372, + HGNC:4700, + HGNC_symbol:GYG2 ; biolink:category biolink:Gene . OMIM:300201 a owl:Class ; @@ -96183,14 +98408,15 @@ OMIM:300201 a owl:Class ; PMID:11932261, PMID:16210619, PMID:19561298 ; - oboInOwl:hasDbXref UMLS:C1424972 ; oboInOwl:hasExactSynonym "CYSLTR1", "cyslt1", "cyslt1r", "cysteinyl leukotriene receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10800 ; - skos:exactMatch HGNC_symbol:CYSLTR1 ; + skos:exactMatch UMLS:C1424972, + HGNC:17451, + HGNC_symbol:CYSLTR1 ; biolink:category biolink:Gene . OMIM:300202 a owl:Class ; @@ -96215,13 +98441,14 @@ OMIM:300202 a owl:Class ; PMID:9990351 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:313400 ; - oboInOwl:hasDbXref UMLS:C1427889 ; oboInOwl:hasExactSynonym "TRAPPC2", "sedlin", "tracking protein particle complex, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6399 ; - skos:exactMatch HGNC_symbol:TRAPPC2 ; + skos:exactMatch UMLS:C1427889, + HGNC:23068, + HGNC_symbol:TRAPPC2 ; biolink:category biolink:Gene . OMIM:300203 a owl:Class ; @@ -96256,14 +98483,15 @@ OMIM:300203 a owl:Class ; PMID:9721213 ; RO:0002525 CHR:9606chrXp22.13 ; RO:0003303 OMIM:300672 ; - oboInOwl:hasDbXref UMLS:C1420484, - UMLS:C4750718 ; oboInOwl:hasExactSynonym "CDKL5", "cyclin-dependent kinase-like 5", "serine/threonine protein kinase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6792 ; - skos:exactMatch HGNC_symbol:CDKL5 ; + skos:exactMatch UMLS:C1420484, + UMLS:C4750718, + HGNC:11411, + HGNC_symbol:CDKL5 ; biolink:category biolink:Gene . OMIM:300204 a owl:Class ; @@ -96274,13 +98502,14 @@ OMIM:300204 a owl:Class ; PMID:3658675 ; RO:0002525 CHR:9606chrXq22.3 ; RO:0003303 OMIM:300928 ; - oboInOwl:hasDbXref UMLS:C1417168 ; oboInOwl:hasExactSynonym "MID2", "midin 2", "midline 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11043 ; - skos:exactMatch HGNC_symbol:MID2 ; + skos:exactMatch UMLS:C1417168, + HGNC:7096, + HGNC_symbol:MID2 ; biolink:category biolink:Gene . OMIM:300206 a owl:Class ; @@ -96298,15 +98527,16 @@ OMIM:300206 a owl:Class ; PMID:8230164 ; RO:0002525 CHR:9606chrXp21.3-p21.2 ; RO:0003303 OMIM:300143 ; - oboInOwl:hasDbXref UMLS:C1416398, - UMLS:C1846187 ; oboInOwl:hasExactSynonym "IL1RAPL1", "il1rapl1/dmd fusion gene", "interleukin 1 receptor 8", "interleukin 1 receptor accessory protein-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11141 ; - skos:exactMatch HGNC_symbol:IL1RAPL1 ; + skos:exactMatch UMLS:C1416398, + UMLS:C1846187, + HGNC:5996, + HGNC_symbol:IL1RAPL1 ; biolink:category biolink:Gene . OMIM:300207 a owl:Class ; @@ -96315,25 +98545,27 @@ OMIM:300207 a owl:Class ; PMID:16778767, PMID:8647286, PMID:9933574 ; - oboInOwl:hasDbXref UMLS:C1415241 ; oboInOwl:hasExactSynonym "GPR50", "g protein-coupled receptor 50", "h9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9248 ; - skos:exactMatch HGNC_symbol:GPR50 ; + skos:exactMatch UMLS:C1415241, + HGNC:4506, + HGNC_symbol:GPR50 ; biolink:category biolink:Gene . OMIM:300208 a owl:Class ; rdfs:label "SCML2" ; IAO:0000142 PMID:10331946 ; - oboInOwl:hasDbXref UMLS:C1419852 ; oboInOwl:hasExactSynonym "SCML2", "scm polycomb group protein-like 2", "sex comb on midleg, drosophila, homolog-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10389 ; - skos:exactMatch HGNC_symbol:SCML2 ; + skos:exactMatch UMLS:C1419852, + HGNC:10581, + HGNC_symbol:SCML2 ; biolink:category biolink:Gene . OMIM:300212 a owl:Class ; @@ -96343,24 +98575,26 @@ OMIM:300212 a owl:Class ; PMID:7548213, PMID:8348951, PMID:9920722 ; - oboInOwl:hasDbXref UMLS:C1419366 ; oboInOwl:hasExactSynonym "RGN", "regucalcin", "senescence marker protein 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9104 ; - skos:exactMatch HGNC_symbol:RGN ; + skos:exactMatch UMLS:C1419366, + HGNC:9989, + HGNC_symbol:RGN ; biolink:category biolink:Gene . OMIM:300213 a owl:Class ; rdfs:label "CXX1" ; IAO:0000142 PMID:9403077 ; - oboInOwl:hasDbXref UMLS:C1825270 ; oboInOwl:hasExactSynonym "CXX1", "caax box protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8933 ; - skos:exactMatch HGNC_symbol:RTL8C ; + skos:exactMatch UMLS:C1825270, + HGNC:2569, + HGNC_symbol:RTL8C ; biolink:category biolink:Gene . OMIM:300214 a owl:Class ; @@ -96368,13 +98602,14 @@ OMIM:300214 a owl:Class ; IAO:0000142 PMID:10520995, PMID:15218527, PMID:16152637 ; - oboInOwl:hasDbXref UMLS:C1418666 ; oboInOwl:hasExactSynonym "PLXNB3", "plexin 6", "plexin b3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5365 ; - skos:exactMatch HGNC_symbol:PLXNB3 ; + skos:exactMatch UMLS:C1418666, + HGNC:9105, + HGNC_symbol:PLXNB3 ; biolink:category biolink:Gene . OMIM:300215 a owl:Class ; @@ -96387,25 +98622,26 @@ OMIM:300215 a owl:Class ; PMID:1605226, PMID:18462864, PMID:19439424 ; - oboInOwl:hasDbXref UMLS:C1846171, - ORPHA:452 ; oboInOwl:hasExactSynonym "LISX2", "hydranencephaly and abnormal genitalia", "lissencephaly, x-linked, 2", "lissencephaly, x-linked, with ambiguous genitalia", "xlisg" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C1846171, + ORPHA:452 ; biolink:category biolink:Disease . OMIM:300217 a owl:Class ; rdfs:label "RAI2" ; IAO:0000142 PMID:10049581 ; - oboInOwl:hasDbXref UMLS:C1419250 ; oboInOwl:hasExactSynonym "RAI2", "retinoic acid-induced 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10742 ; - skos:exactMatch HGNC_symbol:RAI2 ; + skos:exactMatch UMLS:C1419250, + HGNC:9835, + HGNC_symbol:RAI2 ; biolink:category biolink:Gene . OMIM:300219 a owl:Class ; @@ -96413,8 +98649,8 @@ OMIM:300219 a owl:Class ; IAO:0000142 PMID:10449925, PMID:8789451, PMID:9169146 ; - oboInOwl:hasDbXref UMLS:C1846169 ; oboInOwl:hasExactSynonym "myotubular myopathy with abnormal genital development" ; + skos:exactMatch UMLS:C1846169 ; biolink:category biolink:Disease . OMIM:300220 a owl:Class ; @@ -96427,13 +98663,14 @@ OMIM:300222 a owl:Class ; PMID:8702637, PMID:9653160, PMID:9892734 ; - oboInOwl:hasDbXref UMLS:C1416511 ; oboInOwl:hasExactSynonym "ITM2A", "e25a", "integral membrane protein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9452 ; - skos:exactMatch HGNC_symbol:ITM2A ; + skos:exactMatch UMLS:C1416511, + HGNC:6173, + HGNC_symbol:ITM2A ; biolink:category biolink:Gene . OMIM:300223 a owl:Class ; @@ -96441,12 +98678,13 @@ OMIM:300223 a owl:Class ; IAO:0000142 PMID:15772651, PMID:9485030, PMID:9618514 ; - oboInOwl:hasDbXref UMLS:C1416985 ; oboInOwl:hasExactSynonym "MAGEC1", "melanoma antigen, family c, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9947 ; - skos:exactMatch HGNC_symbol:MAGEC1 ; + skos:exactMatch UMLS:C1416985, + HGNC:6812, + HGNC_symbol:MAGEC1 ; biolink:category biolink:Gene . OMIM:300224 a owl:Class ; @@ -96455,14 +98693,15 @@ OMIM:300224 a owl:Class ; PMID:10985348, PMID:11087672, PMID:15772651 ; - oboInOwl:hasDbXref UMLS:C1334472 ; oboInOwl:hasExactSynonym "MAGED1", "dlxin1", "melanoma antigen, family d, 1", "neurotrophin receptor-interacting mage homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9500 ; - skos:exactMatch HGNC_symbol:MAGED1 ; + skos:exactMatch UMLS:C1334472, + HGNC:6813, + HGNC_symbol:MAGED1 ; biolink:category biolink:Gene . OMIM:300225 a owl:Class ; @@ -96473,7 +98712,6 @@ OMIM:300225 a owl:Class ; PMID:17853944, PMID:18063801, PMID:9427254 ; - oboInOwl:hasDbXref UMLS:C1456389 ; oboInOwl:hasExactSynonym "NOX1", "gp91-2", "mitogenic oxidase 1", @@ -96481,7 +98719,9 @@ OMIM:300225 a owl:Class ; "nadph oxidase homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27035 ; - skos:exactMatch HGNC_symbol:NOX1 ; + skos:exactMatch UMLS:C1456389, + HGNC:7889, + HGNC_symbol:NOX1 ; biolink:category biolink:Gene . OMIM:300226 a owl:Class ; @@ -96495,32 +98735,33 @@ OMIM:300226 a owl:Class ; PMID:7581376, PMID:8872482 ; RO:0002525 CHR:9606chrXp22.12 ; - RO:0003303 OMIM:300066 ; - oboInOwl:hasDbXref UMLS:C1420261 ; + RO:0003303 OMIM:301075 ; oboInOwl:hasExactSynonym "SMPX", "chisel, mouse, homolog of", "small muscle protein, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23676 ; - skos:exactMatch HGNC_symbol:SMPX ; + skos:exactMatch UMLS:C1420261, + HGNC:11122, + HGNC_symbol:SMPX ; biolink:category biolink:Gene . OMIM:300227 a owl:Class ; rdfs:label "SCML1" ; IAO:0000142 PMID:9570953 ; - oboInOwl:hasDbXref UMLS:C1419851 ; oboInOwl:hasExactSynonym "SCML1", "scm polycomb group protein-like 1", "sex comb on midleg, drosophila, homolog-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6322 ; - skos:exactMatch HGNC_symbol:SCML1 ; + skos:exactMatch UMLS:C1419851, + HGNC:10580, + HGNC_symbol:SCML1 ; biolink:category biolink:Gene . OMIM:300229 a owl:Class ; rdfs:label "VCX" ; IAO:0000142 PMID:10607842 ; - oboInOwl:hasDbXref UMLS:C1421438 ; oboInOwl:hasExactSynonym "VCX", "variably charged, 10 chromosome", "variably charged, 10 chromosome, b1", @@ -96528,20 +98769,23 @@ OMIM:300229 a owl:Class ; "vcx1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26609 ; - skos:exactMatch HGNC_symbol:VCX ; + skos:exactMatch UMLS:C1421438, + HGNC:12667, + HGNC_symbol:VCX ; biolink:category biolink:Gene . OMIM:300230 a owl:Class ; rdfs:label "CA5B" ; IAO:0000142 PMID:10409679, PMID:10677517 ; - oboInOwl:hasDbXref UMLS:C1413047 ; oboInOwl:hasExactSynonym "CA5B", "ca 5b", "carbonic anhydrase vb, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11238 ; - skos:exactMatch HGNC_symbol:CA5B ; + skos:exactMatch UMLS:C1413047, + HGNC:1378, + HGNC_symbol:CA5B ; biolink:category biolink:Gene . OMIM:300231 a owl:Class ; @@ -96564,54 +98808,58 @@ OMIM:300231 a owl:Class ; PMID:9507001 ; RO:0002525 CHR:9606chrXq26.3 ; RO:0003303 OMIM:300243 ; - oboInOwl:hasDbXref UMLS:C1420240 ; oboInOwl:hasExactSynonym "SLC9A6", "sodium/hydrogen exchanger 6", "solute carrier family 9, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10479 ; - skos:exactMatch HGNC_symbol:SLC9A6 ; + skos:exactMatch UMLS:C1420240, + HGNC:11079, + HGNC_symbol:SLC9A6 ; biolink:category biolink:Gene . OMIM:300233 a owl:Class ; rdfs:label "radioulnar synostosis, radial ray abnormalities, and severe malformations 1n the male" ; IAO:0000142 PMID:10706353 ; - oboInOwl:hasDbXref UMLS:C1846147 ; - oboInOwl:hasExactSynonym "radioulnar synostosis, radial ray abnormalities, and severe malformations 1n the male" . + oboInOwl:hasExactSynonym "radioulnar synostosis, radial ray abnormalities, and severe malformations 1n the male" ; + skos:exactMatch UMLS:C1846147 . OMIM:300234 a owl:Class ; rdfs:label "UXT" ; IAO:0000142 PMID:10087202, PMID:11827465 ; - oboInOwl:hasDbXref UMLS:C1421417 ; oboInOwl:hasExactSynonym "UXT", "ubiquitously expressed transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8409 ; - skos:exactMatch HGNC_symbol:UXT ; + skos:exactMatch UMLS:C1421417, + HGNC:12641, + HGNC_symbol:UXT ; biolink:category biolink:Gene . OMIM:300235 a owl:Class ; rdfs:label "ZXDA" ; IAO:0000142 PMID:17493635, PMID:8268913 ; - oboInOwl:hasDbXref UMLS:C1421872 ; oboInOwl:hasExactSynonym "ZXDA", "zinc finger-encoding gene, x-linked, duplicated, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7789 ; - skos:exactMatch HGNC_symbol:ZXDA ; + skos:exactMatch UMLS:C1421872, + HGNC:13198, + HGNC_symbol:ZXDA ; biolink:category biolink:Gene . OMIM:300236 a owl:Class ; rdfs:label "ZXDB" ; IAO:0000142 PMID:8268913 ; - oboInOwl:hasDbXref UMLS:C1421873 ; oboInOwl:hasExactSynonym "ZXDB", "zinc finger-encoding gene, x-linked, duplicated, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158586 ; - skos:exactMatch HGNC_symbol:ZXDB ; + skos:exactMatch UMLS:C1421873, + HGNC:13199, + HGNC_symbol:ZXDB ; biolink:category biolink:Gene . OMIM:300239 a owl:Class ; @@ -96619,14 +98867,15 @@ OMIM:300239 a owl:Class ; IAO:0000142 PMID:10610727, PMID:10777661, PMID:21335239 ; - oboInOwl:hasDbXref UMLS:C1333331 ; oboInOwl:hasExactSynonym "EGFL6", "egf-like 6", "epidermal growth factor-like 6", "mam- and egf-containing gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25975 ; - skos:exactMatch HGNC_symbol:EGFL6 ; + skos:exactMatch UMLS:C1333331, + HGNC:3235, + HGNC_symbol:EGFL6 ; biolink:category biolink:Gene . OMIM:300241 a owl:Class ; @@ -96635,25 +98884,27 @@ OMIM:300241 a owl:Class ; PMID:10395919, PMID:10982042, PMID:16338117 ; - oboInOwl:hasDbXref UMLS:C1415227 ; oboInOwl:hasExactSynonym "GPR34", "g protein-coupled receptor 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2857 ; - skos:exactMatch HGNC_symbol:GPR34 ; + skos:exactMatch UMLS:C1415227, + HGNC:4490, + HGNC_symbol:GPR34 ; biolink:category biolink:Gene . OMIM:300242 a owl:Class ; rdfs:label "SLC25A14" ; IAO:0000142 PMID:9852133 ; - oboInOwl:hasDbXref UMLS:C1420155 ; oboInOwl:hasExactSynonym "SLC25A14", "brain mitochondrial carrier protein 1", "solute carrier family 25 (mitochondrial carrier, brain), member 14", "uncoupling protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9016 ; - skos:exactMatch HGNC_symbol:SLC25A14 ; + skos:exactMatch UMLS:C1420155, + HGNC:10984, + HGNC_symbol:SLC25A14 ; biolink:category biolink:Gene . OMIM:300246 a owl:Class ; @@ -96665,14 +98916,15 @@ OMIM:300246 a owl:Class ; PMID:16425037, PMID:9110170, PMID:9384598 ; - oboInOwl:hasDbXref UMLS:C1418306 ; oboInOwl:hasExactSynonym "PCDH11X", "protocadherin 11, X-linked", "protocadherin 11, formerly", "protocadherin, 10 chromosome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27328 ; - skos:exactMatch HGNC_symbol:PCDH11X ; + skos:exactMatch UMLS:C1418306, + HGNC:8656, + HGNC_symbol:PCDH11X ; biolink:category biolink:Gene . OMIM:300247 a owl:Class ; @@ -96689,25 +98941,27 @@ OMIM:300247 a owl:Class ; PMID:9849956 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:300510 ; - oboInOwl:hasDbXref UMLS:C1332423 ; oboInOwl:hasExactSynonym "BMP15", "bone morphogenetic protein 15", "growth/differentiation factor 9b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9210 ; - skos:exactMatch HGNC_symbol:BMP15 ; + skos:exactMatch UMLS:C1332423, + HGNC:1068, + HGNC_symbol:BMP15 ; biolink:category biolink:Gene . OMIM:300249 a owl:Class ; rdfs:label "TIMM17B" ; IAO:0000142 PMID:10339406 ; - oboInOwl:hasDbXref UMLS:C1424892 ; oboInOwl:hasExactSynonym "TIMM17B", "tim17, yeast, homolog of, B", "translocase of inner mitochondrial membrane 17b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10245 ; - skos:exactMatch HGNC_symbol:TIMM17B ; + skos:exactMatch UMLS:C1424892, + HGNC:17310, + HGNC_symbol:TIMM17B ; biolink:category biolink:Gene . OMIM:300250 a owl:Class ; @@ -96722,26 +98976,28 @@ OMIM:300252 a owl:Class ; rdfs:label "PIN4" ; IAO:0000142 PMID:10100858, PMID:10364457 ; - oboInOwl:hasDbXref UMLS:C1418586 ; oboInOwl:hasExactSynonym "PIN4", "epvh", "parvulin 14", "peptidyl-prolyl cis/trans isomerase, nima-interacting, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5303 ; - skos:exactMatch HGNC_symbol:PIN4 ; + skos:exactMatch UMLS:C1418586, + HGNC:8992, + HGNC_symbol:PIN4 ; biolink:category biolink:Gene . OMIM:300253 a owl:Class ; rdfs:label "GPR173" ; IAO:0000142 PMID:10833454 ; - oboInOwl:hasDbXref UMLS:C1539609 ; oboInOwl:hasExactSynonym "GPR173", "g protein-coupled receptor 173", "superconserved receptor expressed 1n brain 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54328 ; - skos:exactMatch HGNC_symbol:GPR173 ; + skos:exactMatch UMLS:C1539609, + HGNC:18186, + HGNC_symbol:GPR173 ; biolink:category biolink:Gene . OMIM:300254 a owl:Class ; @@ -96761,13 +99017,14 @@ OMIM:300254 a owl:Class ; PMID:25931448, PMID:29326266, PMID:30051891 ; - oboInOwl:hasDbXref UMLS:C1420532 ; oboInOwl:hasExactSynonym "SUV39H1", "su(var)3-9, drosophila, homolog of, 1", "suppressor of variegation 3-9, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6839 ; - skos:exactMatch HGNC_symbol:SUV39H1 ; + skos:exactMatch UMLS:C1420532, + HGNC:11479, + HGNC_symbol:SUV39H1 ; biolink:category biolink:Gene . OMIM:300258 a owl:Class ; @@ -96784,14 +99041,15 @@ OMIM:300264 a owl:Class ; PMID:25616961 ; RO:0002525 CHR:9606chrXp11.21 ; RO:0003303 OMIM:300857 ; - oboInOwl:hasDbXref UMLS:C1421305 ; oboInOwl:hasExactSynonym "UBQLN2", "chap1", "plic2, mouse, homolog of", "ubiquilin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29978 ; - skos:exactMatch HGNC_symbol:UBQLN2 ; + skos:exactMatch UMLS:C1421305, + HGNC:12509, + HGNC_symbol:UBQLN2 ; biolink:category biolink:Gene . OMIM:300265 a owl:Class ; @@ -96813,18 +99071,19 @@ OMIM:300265 a owl:Class ; PMID:9354794 ; RO:0002525 CHR:9606chrXq26.3 ; RO:0003303 OMIM:314390 ; - oboInOwl:hasDbXref UMLS:C1421583, - UMLS:C1844020, - UMLS:C3151867, - UMLS:C4015968, - UMLS:C4016468 ; oboInOwl:hasExactSynonym "ZIC3", "htx1", "zic family, member 3", "zinc finger protein of cerebellum 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7547 ; - skos:exactMatch HGNC_symbol:ZIC3 ; + skos:exactMatch UMLS:C1421583, + UMLS:C1844020, + UMLS:C3151867, + UMLS:C4015968, + UMLS:C4016468, + HGNC:12874, + HGNC_symbol:ZIC3 ; biolink:category biolink:Gene . OMIM:300267 a owl:Class ; @@ -96837,7 +99096,6 @@ OMIM:300267 a owl:Class ; PMID:9443904, PMID:9659915, PMID:9783701 ; - oboInOwl:hasDbXref UMLS:C1412531 ; oboInOwl:hasExactSynonym "ARHGEF6", "alpha-pix", "cool2", @@ -96845,7 +99103,9 @@ OMIM:300267 a owl:Class ; "rho guanine nucleotide exchange factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9459 ; - skos:exactMatch HGNC_symbol:ARHGEF6 ; + skos:exactMatch UMLS:C1412531, + HGNC:685, + HGNC_symbol:ARHGEF6 ; biolink:category biolink:Gene . OMIM:300268 a owl:Class ; @@ -96862,29 +99122,30 @@ OMIM:300269 a owl:Class ; PMID:22889856 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:300882 ; - oboInOwl:hasDbXref UMLS:C1421934 ; oboInOwl:hasExactSynonym "HDAC8", "histone deacetylase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55869 ; - skos:exactMatch HGNC_symbol:HDAC8 ; + skos:exactMatch UMLS:C1421934, + HGNC:13315, + HGNC_symbol:HDAC8 ; biolink:category biolink:Gene . OMIM:300270 a owl:Class ; rdfs:label "adrenomyodystrophy" ; IAO:0000142 PMID:7153060 ; - oboInOwl:hasDbXref UMLS:C1846044 ; - oboInOwl:hasExactSynonym "adrenomyodystrophy" . + oboInOwl:hasExactSynonym "adrenomyodystrophy" ; + skos:exactMatch UMLS:C1846044 . OMIM:300271 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 72" ; IAO:0000142 PMID:11050621, PMID:20159109 ; - oboInOwl:hasDbXref UMLS:C1846038 ; oboInOwl:hasExactSynonym "XLID72", "intellectual developmental disorder, X-linked 72", "mental retardation, X-linked 72" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1846038 ; biolink:category biolink:Disease . OMIM:300272 a owl:Class ; @@ -96906,14 +99167,15 @@ OMIM:300272 a owl:Class ; PMID:32943500 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300863 ; - oboInOwl:hasDbXref UMLS:C1333895, - UMLS:C3275476 ; oboInOwl:hasExactSynonym "HDAC6", "histone deacetylase 6", "kiaa0901" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10013 ; - skos:exactMatch HGNC_symbol:HDAC6 ; + skos:exactMatch UMLS:C1333895, + UMLS:C3275476, + HGNC:14064, + HGNC_symbol:HDAC6 ; biolink:category biolink:Gene . OMIM:300274 a owl:Class ; @@ -96937,12 +99199,13 @@ OMIM:300275 a owl:Class ; PMID:8882402 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300831 ; - oboInOwl:hasDbXref UMLS:C1538487 ; oboInOwl:hasExactSynonym "NSDHL", "nad(p)h steroid dehydrogenase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50814 ; - skos:exactMatch HGNC_symbol:NSDHL ; + skos:exactMatch UMLS:C1538487, + HGNC:13398, + HGNC_symbol:NSDHL ; biolink:category biolink:Gene . OMIM:300276 a owl:Class ; @@ -96952,7 +99215,6 @@ OMIM:300276 a owl:Class ; PMID:12917689, PMID:17943131, PMID:22889853 ; - oboInOwl:hasDbXref UMLS:C1539328 ; oboInOwl:hasExactSynonym "EDA2R", "ectodysplasin a2 isoform receptor", "ectodysplasin a2 receptor", @@ -96961,20 +99223,23 @@ OMIM:300276 a owl:Class ; "eda-a2r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60401 ; - skos:exactMatch HGNC_symbol:EDA2R ; + skos:exactMatch UMLS:C1539328, + HGNC:17756, + HGNC_symbol:EDA2R ; biolink:category biolink:Gene . OMIM:300277 a owl:Class ; rdfs:label "IL1RAPL2" ; IAO:0000142 PMID:10757639, PMID:11031108 ; - oboInOwl:hasDbXref UMLS:C1416399 ; oboInOwl:hasExactSynonym "IL1RAPL2", "interleukin 1 receptor 9", "interleukin 1 receptor accessory protein-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26280 ; - skos:exactMatch HGNC_symbol:IL1RAPL2 ; + skos:exactMatch UMLS:C1416399, + HGNC:5997, + HGNC_symbol:IL1RAPL2 ; biolink:category biolink:Gene . OMIM:300278 a owl:Class ; @@ -96985,12 +99250,13 @@ OMIM:300278 a owl:Class ; PMID:16670814 ; RO:0002525 CHR:9606chrXp11.4 ; RO:0003303 OMIM:310500 ; - oboInOwl:hasDbXref UMLS:C1417909 ; oboInOwl:hasExactSynonym "NYX", "nyctalopin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60506 ; - skos:exactMatch HGNC_symbol:NYX ; + skos:exactMatch UMLS:C1417909, + HGNC:8082, + HGNC_symbol:NYX ; biolink:category biolink:Gene . OMIM:300279 a owl:Class ; @@ -97001,47 +99267,50 @@ OMIM:300280 a owl:Class ; rdfs:label "uruguay faciocardiomusculoskeletal syndrome" ; IAO:0000142 PMID:11102932, PMID:26933038 ; - oboInOwl:hasDbXref UMLS:C1846010 ; oboInOwl:hasExactSynonym "FCMSU", "faciocardiomusculoskeletal syndrome, uruguay iia", "fcms", "uruguay faciocardiomusculoskeletal syndrome" ; + skos:exactMatch UMLS:C1846010 ; biolink:category biolink:Disease . OMIM:300281 a owl:Class ; rdfs:label "KCND1" ; IAO:0000142 PMID:10729221 ; - oboInOwl:hasDbXref UMLS:C1416560 ; oboInOwl:hasExactSynonym "KCND1", "kv4.1", "potassium voltage-gated channel, shal-related subfamily, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3750 ; - skos:exactMatch HGNC_symbol:KCND1 ; + skos:exactMatch UMLS:C1416560, + HGNC:6237, + HGNC_symbol:KCND1 ; biolink:category biolink:Gene . OMIM:300282 a owl:Class ; rdfs:label "ENOX2" ; IAO:0000142 PMID:8150545 ; - oboInOwl:hasDbXref UMLS:C1413628 ; oboInOwl:hasExactSynonym "ENOX2", "cytosolic ovarian carcinoma antigen 1", "ecto-nox disulfide-thiol exchanger 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10495 ; - skos:exactMatch HGNC_symbol:ENOX2 ; + skos:exactMatch UMLS:C1413628, + HGNC:2259, + HGNC_symbol:ENOX2 ; biolink:category biolink:Gene . OMIM:300285 a owl:Class ; rdfs:label "RAB9B" ; IAO:0000142 PMID:11043518 ; - oboInOwl:hasDbXref UMLS:C1422400 ; oboInOwl:hasExactSynonym "RAB9B", "ras-associated protein 9b", "ras-associated protein rab9-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51209 ; - skos:exactMatch HGNC_symbol:RAB9B ; + skos:exactMatch UMLS:C1422400, + HGNC:14090, + HGNC_symbol:RAB9B ; biolink:category biolink:Gene . OMIM:300286 a owl:Class ; @@ -97050,21 +99319,21 @@ OMIM:300286 a owl:Class ; PMID:11836360, PMID:15820306, PMID:23716600 ; - oboInOwl:hasDbXref UMLS:C1416663 ; oboInOwl:hasExactSynonym "KLF8", "basic kruppel-like factor 3", "kruppel-like factor 8", "zinc finger protein 741" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11279 ; - skos:exactMatch HGNC_symbol:KLF8 ; + skos:exactMatch UMLS:C1416663, + HGNC:6351, + HGNC_symbol:KLF8 ; biolink:category biolink:Gene . OMIM:300287 a owl:Class ; rdfs:label "PAGE4" ; IAO:0000142 PMID:17222644, PMID:9724777 ; - oboInOwl:hasDbXref UMLS:C1538569 ; oboInOwl:hasExactSynonym "PAGE4", "g antigen, family c, 1", "gage9", @@ -97074,7 +99343,9 @@ OMIM:300287 a owl:Class ; "prostate-associated gene 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9506 ; - skos:exactMatch HGNC_symbol:PAGE4 ; + skos:exactMatch UMLS:C1538569, + HGNC:4108, + HGNC_symbol:PAGE4 ; biolink:category biolink:Gene . OMIM:300292 a owl:Class ; @@ -97136,15 +99407,16 @@ OMIM:300292 a owl:Class ; PMID:8777684 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:304790 ; - oboInOwl:hasDbXref UMLS:C0342288, - UMLS:C1416467 ; oboInOwl:hasExactSynonym "FOXP3", "forkhead box p3", "jm2", "scurfin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50943 ; - skos:exactMatch HGNC_symbol:FOXP3 ; + skos:exactMatch UMLS:C0342288, + UMLS:C1416467, + HGNC:6106, + HGNC_symbol:FOXP3 ; biolink:category biolink:Gene . OMIM:300293 a owl:Class ; @@ -97170,41 +99442,44 @@ OMIM:300294 a owl:Class ; PMID:9659902 ; RO:0002525 CHR:9606chrXp22.12 ; RO:0003303 OMIM:301014 ; - oboInOwl:hasDbXref UMLS:C1423501, - UMLS:C3806745, - UMLS:C3887525, - UMLS:C4746956, - UMLS:C5399971 ; oboInOwl:hasExactSynonym "MBTPS2", "membrane-bound transcription factor protease, site 2", "site-2 protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51360 ; - skos:exactMatch HGNC_symbol:MBTPS2 ; + skos:exactMatch UMLS:C1423501, + UMLS:C3806745, + UMLS:C3887525, + UMLS:C4746956, + UMLS:C5399971, + HGNC:15455, + HGNC_symbol:MBTPS2 ; biolink:category biolink:Gene . OMIM:300295 a owl:Class ; rdfs:label "PIM2" ; IAO:0000142 PMID:15199164, PMID:9804974 ; - oboInOwl:hasDbXref UMLS:C1418581 ; oboInOwl:hasExactSynonym "PIM2", "oncogene pim2", "serine/threonine protein kinase pim2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11040 ; - skos:exactMatch HGNC_symbol:PIM2 ; + skos:exactMatch UMLS:C1418581, + HGNC:8987, + HGNC_symbol:PIM2 ; biolink:category biolink:Gene . OMIM:300296 a owl:Class ; rdfs:label "PLAC1" ; IAO:0000142 PMID:10995572 ; - oboInOwl:hasDbXref UMLS:C1418628 ; oboInOwl:hasExactSynonym "PLAC1", "placenta-specific gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10761 ; - skos:exactMatch HGNC_symbol:PLAC1 ; + skos:exactMatch UMLS:C1418628, + HGNC:9044, + HGNC_symbol:PLAC1 ; biolink:category biolink:Gene . OMIM:300299 a owl:Class ; @@ -97214,11 +99489,11 @@ OMIM:300299 a owl:Class ; PMID:19006568, PMID:20513746, PMID:3284030 ; - oboInOwl:hasDbXref UMLS:C1845987 ; oboInOwl:hasExactSynonym "SCNX", "neutropenia, severe congenital, X-linked", "xln" ; rdfs:subClassOf OMIMPS:202700 ; + skos:exactMatch UMLS:C1845987 ; biolink:category biolink:Disease . OMIM:300300 a owl:Class ; @@ -97282,14 +99557,15 @@ OMIM:300300 a owl:Class ; PMID:9545398 ; RO:0002525 CHR:9606chrXq22.1 ; RO:0003303 OMIM:307200 ; - oboInOwl:hasDbXref UMLS:C1412841 ; oboInOwl:hasExactSynonym "BTK", "agammaglobulinemia tyrosine kinase", "b-cell progenitor kinase", "bruton agammaglobulinemia tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:695 ; - skos:exactMatch HGNC_symbol:BTK ; + skos:exactMatch UMLS:C1412841, + HGNC:1133, + HGNC_symbol:BTK ; biolink:category biolink:Gene . OMIM:300301 a owl:Class ; @@ -97299,26 +99575,28 @@ OMIM:300301 a owl:Class ; OMIM:300302 a owl:Class ; rdfs:label "DYNLT3" ; IAO:0000142 PMID:8004092 ; - oboInOwl:hasDbXref UMLS:C1825019 ; oboInOwl:hasExactSynonym "DYNLT3", "dynein, light chain, tctex type, 3", "t complex-associated testis-expressed 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6990 ; - skos:exactMatch HGNC_symbol:DYNLT3 ; + skos:exactMatch UMLS:C1825019, + HGNC:11694, + HGNC_symbol:DYNLT3 ; biolink:category biolink:Gene . OMIM:300303 a owl:Class ; rdfs:label "RPS6KA6" ; IAO:0000142 PMID:10644430 ; - oboInOwl:hasDbXref UMLS:C1419747 ; oboInOwl:hasExactSynonym "RPS6KA6", "ribosomal protein s6 kinase a6", "ribosomal protein s6 kinase, 90-kd, 6", "ribosomal s6 kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27330 ; - skos:exactMatch HGNC_symbol:RPS6KA6 ; + skos:exactMatch UMLS:C1419747, + HGNC:10435, + HGNC_symbol:RPS6KA6 ; biolink:category biolink:Gene . OMIM:300305 a owl:Class ; @@ -97327,14 +99605,15 @@ OMIM:300305 a owl:Class ; PMID:11133693, PMID:12758128, PMID:17012309 ; - oboInOwl:hasDbXref UMLS:C1420341 ; oboInOwl:hasExactSynonym "SPANXA1", "spanx", "spanx family, member a1", "sperm protein associated with the nucleus, 10 chromosome, family member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30014 ; - skos:exactMatch HGNC_symbol:SPANXA1 ; + skos:exactMatch UMLS:C1420341, + HGNC:11218, + HGNC_symbol:SPANXA1 ; biolink:category biolink:Gene . OMIM:300306 a owl:Class ; @@ -97343,10 +99622,10 @@ OMIM:300306 a owl:Class ; PMID:14660752, PMID:15331564 ; RO:0002525 CHR:9606chrXq24 ; - oboInOwl:hasDbXref UMLS:C2678155 ; oboInOwl:hasExactSynonym "BMIQ11", "body mass index quantitative trait locus 11", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C2678155 ; biolink:category biolink:Disease . OMIM:300307 a owl:Class ; @@ -97365,27 +99644,29 @@ OMIM:300307 a owl:Class ; PMID:839509 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:303400 ; - oboInOwl:hasDbXref UMLS:C1420611, - UMLS:C1844830, - UMLS:C1844831, - UMLS:C1844862 ; oboInOwl:hasExactSynonym "TBX22", "t-box 22", "t-box transcription factor 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50945 ; - skos:exactMatch HGNC_symbol:TBX22 ; + skos:exactMatch UMLS:C1420611, + UMLS:C1844830, + UMLS:C1844831, + UMLS:C1844862, + HGNC:11600, + HGNC_symbol:TBX22 ; biolink:category biolink:Gene . OMIM:300308 a owl:Class ; rdfs:label "FTHL17" ; IAO:0000142 PMID:11279525 ; - oboInOwl:hasDbXref UMLS:C1414843 ; oboInOwl:hasExactSynonym "FTHL17", "ferritin heavy polypeptide-like 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53940 ; - skos:exactMatch HGNC_symbol:FTHL17 ; + skos:exactMatch UMLS:C1414843, + HGNC:3987, + HGNC_symbol:FTHL17 ; biolink:category biolink:Gene . OMIM:300309 a owl:Class ; @@ -97397,12 +99678,13 @@ OMIM:300309 a owl:Class ; PMID:24922532, PMID:25755145, PMID:27089915 ; - oboInOwl:hasDbXref UMLS:C1422015 ; oboInOwl:hasExactSynonym "USP26", "ubiquitin-specific protease 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83844 ; - skos:exactMatch HGNC_symbol:USP26 ; + skos:exactMatch UMLS:C1422015, + HGNC:13485, + HGNC_symbol:USP26 ; biolink:category biolink:Gene . OMIM:300311 a owl:Class ; @@ -97412,47 +99694,51 @@ OMIM:300311 a owl:Class ; PMID:25970010 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:309120 ; - oboInOwl:hasDbXref UMLS:C1420690 ; oboInOwl:hasExactSynonym "TEX11", "testis-expressed gene 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56159 ; - skos:exactMatch HGNC_symbol:TEX11 ; + skos:exactMatch UMLS:C1420690, + HGNC:11733, + HGNC_symbol:TEX11 ; biolink:category biolink:Gene . OMIM:300312 a owl:Class ; rdfs:label "TEX13A" ; IAO:0000142 PMID:11279525 ; - oboInOwl:hasDbXref UMLS:C1420692 ; oboInOwl:hasExactSynonym "TEX13A", "testis-expressed gene 13a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56157 ; - skos:exactMatch HGNC_symbol:TEX13A ; + skos:exactMatch UMLS:C1420692, + HGNC:11735, + HGNC_symbol:TEX13A ; biolink:category biolink:Gene . OMIM:300313 a owl:Class ; rdfs:label "TEX13B" ; IAO:0000142 PMID:11279525 ; - oboInOwl:hasDbXref UMLS:C1420693 ; oboInOwl:hasExactSynonym "TEX13B", "testis-expressed gene 13b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56156 ; - skos:exactMatch HGNC_symbol:TEX13B ; + skos:exactMatch UMLS:C1420693, + HGNC:11736, + HGNC_symbol:TEX13B ; biolink:category biolink:Gene . OMIM:300314 a owl:Class ; rdfs:label "TAF7L" ; IAO:0000142 PMID:11279525 ; - oboInOwl:hasDbXref UMLS:C1420574 ; oboInOwl:hasExactSynonym "TAF7L", "taf7-like RNA polymerase ii, tata box-binding protein-associated factor, 50-kd", "tata box-binding protein-associated factor 7-like", "tata box-binding protein-associated factor q" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54457 ; - skos:exactMatch HGNC_symbol:TAF7L ; + skos:exactMatch UMLS:C1420574, + HGNC:11548, + HGNC_symbol:TAF7L ; biolink:category biolink:Gene . OMIM:300315 a owl:Class ; @@ -97461,24 +99747,26 @@ OMIM:300315 a owl:Class ; PMID:11279525, PMID:16382448, PMID:17548835 ; - oboInOwl:hasDbXref UMLS:C1417899 ; oboInOwl:hasExactSynonym "NXF2", "nuclear RNA export factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56001 ; - skos:exactMatch HGNC_symbol:NXF2 ; + skos:exactMatch UMLS:C1417899, + HGNC:8072, + HGNC_symbol:NXF2 ; biolink:category biolink:Gene . OMIM:300316 a owl:Class ; rdfs:label "NXF3" ; IAO:0000142 PMID:11073998, PMID:11545741 ; - oboInOwl:hasDbXref UMLS:C1417900 ; oboInOwl:hasExactSynonym "NXF3", "nuclear RNA export factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56000 ; - skos:exactMatch HGNC_symbol:NXF3 ; + skos:exactMatch UMLS:C1417900, + HGNC:8073, + HGNC_symbol:NXF3 ; biolink:category biolink:Gene . OMIM:300317 a owl:Class ; @@ -97488,47 +99776,51 @@ OMIM:300317 a owl:Class ; PMID:12888294, PMID:9422736, PMID:9928989 ; - oboInOwl:hasDbXref UMLS:C1419343 ; oboInOwl:hasExactSynonym "REPS2", "partner of ralbp1", "ralbp1-associated eps domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9185 ; - skos:exactMatch HGNC_symbol:REPS2 ; + skos:exactMatch UMLS:C1419343, + HGNC:9963, + HGNC_symbol:REPS2 ; biolink:category biolink:Gene . OMIM:300318 a owl:Class ; rdfs:label "NXF4" ; IAO:0000142 PMID:11073998 ; - oboInOwl:hasDbXref UMLS:C1417901 ; oboInOwl:hasExactSynonym "NXF4", "nuclear RNA export factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55999 ; - skos:exactMatch HGNC_symbol:NXF4 ; + skos:exactMatch UMLS:C1417901, + HGNC:8074, + HGNC_symbol:NXF4 ; biolink:category biolink:Gene . OMIM:300319 a owl:Class ; rdfs:label "NXF5" ; IAO:0000142 PMID:11073998, PMID:23686279 ; - oboInOwl:hasDbXref UMLS:C1417902 ; oboInOwl:hasExactSynonym "NXF5", "nuclear RNA export factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55998 ; - skos:exactMatch HGNC_symbol:NXF5 ; + skos:exactMatch UMLS:C1417902, + HGNC:8075, + HGNC_symbol:NXF5 ; biolink:category biolink:Gene . OMIM:300320 a owl:Class ; rdfs:label "NXT2" ; IAO:0000142 PMID:11073998 ; - oboInOwl:hasDbXref UMLS:C1425347 ; oboInOwl:hasExactSynonym "NXT2", "ntf2-like export factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55916 ; - skos:exactMatch HGNC_symbol:NXT2 ; + skos:exactMatch UMLS:C1425347, + HGNC:18151, + HGNC_symbol:NXT2 ; biolink:category biolink:Gene . OMIM:300321 a owl:Class ; @@ -97537,10 +99829,10 @@ OMIM:300321 a owl:Class ; PMID:11078572, PMID:16299064, PMID:17632775 ; - oboInOwl:hasDbXref UMLS:C1845902 ; oboInOwl:hasExactSynonym "FGS2", "fg syndrome 2" ; rdfs:subClassOf OMIMPS:305400 ; + skos:exactMatch UMLS:C1845902 ; biolink:category biolink:Disease . OMIM:300323 a owl:Class ; @@ -97554,8 +99846,6 @@ OMIM:300323 a owl:Class ; PMID:4291947, PMID:4322125, PMID:5009592 ; - oboInOwl:hasDbXref UMLS:C0268117, - ORPHA:79233 ; oboInOwl:hasExactSynonym "HRH", "gout, hprt-related", "hprt deficiency, partial", @@ -97563,18 +99853,21 @@ OMIM:300323 a owl:Class ; "hyperuricemia, hprt-related", "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial", "kelley-seegmiller syndrome" ; + skos:exactMatch UMLS:C0268117, + ORPHA:79233 ; biolink:category biolink:Disease . OMIM:300325 a owl:Class ; rdfs:label "SSX3" ; IAO:0000142 PMID:8697803, PMID:9378559 ; - oboInOwl:hasDbXref UMLS:C1420436 ; oboInOwl:hasExactSynonym "SSX3", "synovial sarcoma, 10 breakpoint 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10214 ; - skos:exactMatch HGNC_symbol:SSX3 ; + skos:exactMatch UMLS:C1420436, + HGNC:11337, + HGNC_symbol:SSX3 ; biolink:category biolink:Gene . OMIM:300326 a owl:Class ; @@ -97584,36 +99877,39 @@ OMIM:300326 a owl:Class ; PMID:12037676, PMID:9378559, PMID:9428816 ; - oboInOwl:hasDbXref UMLS:C1420437 ; oboInOwl:hasExactSynonym "SSX4", "synovial sarcoma, 10 breakpoint 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6759 ; - skos:exactMatch HGNC_symbol:SSX4 ; + skos:exactMatch UMLS:C1420437, + HGNC:11338, + HGNC_symbol:SSX4 ; biolink:category biolink:Gene . OMIM:300327 a owl:Class ; rdfs:label "SSX5" ; IAO:0000142 PMID:9378559 ; - oboInOwl:hasDbXref UMLS:C1420438 ; oboInOwl:hasExactSynonym "SSX5", "synovial sarcoma, 10 breakpoint 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6758 ; - skos:exactMatch HGNC_symbol:SSX5 ; + skos:exactMatch UMLS:C1420438, + HGNC:11339, + HGNC_symbol:SSX5 ; biolink:category biolink:Gene . OMIM:300328 a owl:Class ; rdfs:label "KCNE1L" ; IAO:0000142 PMID:10493825, PMID:12011158 ; - oboInOwl:hasDbXref UMLS:C1416564 ; oboInOwl:hasExactSynonym "KCNE1L", "kcne5", "potassium channel, voltage-gated, isk-related family, member 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23630 ; - skos:exactMatch HGNC_symbol:KCNE5 ; + skos:exactMatch UMLS:C1416564, + HGNC:6241, + HGNC_symbol:KCNE5 ; biolink:category biolink:Gene . OMIM:300329 a owl:Class ; @@ -97624,27 +99920,29 @@ OMIM:300329 a owl:Class ; PMID:15282317, PMID:16354688, PMID:18794111 ; - oboInOwl:hasDbXref UMLS:C1538153 ; oboInOwl:hasExactSynonym "ZBTB33", "kaiso gene", "zinc finger- and btb domain-containing protein 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10009 ; - skos:exactMatch HGNC_symbol:ZBTB33 ; + skos:exactMatch UMLS:C1538153, + HGNC:16682, + HGNC_symbol:ZBTB33 ; biolink:category biolink:Gene . OMIM:300330 a owl:Class ; rdfs:label "SPANXC" ; IAO:0000142 PMID:10626816, PMID:17012309 ; - oboInOwl:hasDbXref UMLS:C1422569 ; oboInOwl:hasExactSynonym "SPANXC", "ctp11", "spanx family, member c", "sperm protein associated with the nucleus, 10 chromosome, family member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64663 ; - skos:exactMatch HGNC_symbol:SPANXC ; + skos:exactMatch UMLS:C1422569, + HGNC:14331, + HGNC_symbol:SPANXC ; biolink:category biolink:Gene . OMIM:300331 a owl:Class ; @@ -97656,25 +99954,27 @@ OMIM:300332 a owl:Class ; IAO:0000142 PMID:10506186, PMID:12496958, PMID:23124043 ; - oboInOwl:hasDbXref UMLS:C1416497 ; oboInOwl:hasExactSynonym "ITGB1BP2", "integrin, beta-1, binding protein of, 2", "melusin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26548 ; - skos:exactMatch HGNC_symbol:ITGB1BP2 ; + skos:exactMatch UMLS:C1416497, + HGNC:6154, + HGNC_symbol:ITGB1BP2 ; biolink:category biolink:Gene . OMIM:300333 a owl:Class ; rdfs:label "RAB33A" ; IAO:0000142 PMID:7688322, PMID:9116044 ; - oboInOwl:hasDbXref UMLS:C1419202 ; oboInOwl:hasExactSynonym "RAB33A", "ras-associated protein rab33a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9363 ; - skos:exactMatch HGNC_symbol:RAB33A ; + skos:exactMatch UMLS:C1419202, + HGNC:9773, + HGNC_symbol:RAB33A ; biolink:category biolink:Gene . OMIM:300334 a owl:Class ; @@ -97687,14 +99987,15 @@ OMIM:300334 a owl:Class ; PMID:27411851, PMID:29217578, PMID:31285329 ; - oboInOwl:hasDbXref UMLS:C1421172 ; oboInOwl:hasExactSynonym "TRPC5", "transient receptor potential cation channel, subfamily c, member 5", "transient receptor potential channel 5", "transient receptor potential, drosophila, homolog of, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7224 ; - skos:exactMatch HGNC_symbol:TRPC5 ; + skos:exactMatch UMLS:C1421172, + HGNC:12337, + HGNC_symbol:TRPC5 ; biolink:category biolink:Gene . OMIM:300335 a owl:Class ; @@ -97718,13 +100019,14 @@ OMIM:300335 a owl:Class ; PMID:32225176, PMID:32275855, PMID:32661058 ; - oboInOwl:hasDbXref UMLS:C1422064 ; oboInOwl:hasExactSynonym "ACE2", "aceh", "angiotensin i-converting enzyme 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59272 ; - skos:exactMatch HGNC_symbol:ACE2 ; + skos:exactMatch UMLS:C1422064, + HGNC:13557, + HGNC_symbol:ACE2 ; biolink:category biolink:Gene . OMIM:300336 a owl:Class ; @@ -97744,27 +100046,29 @@ OMIM:300336 a owl:Class ; PMID:29503190 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:300425 ; - oboInOwl:hasDbXref UMLS:C1422546, - UMLS:C1845540, - UMLS:C3151708 ; oboInOwl:hasExactSynonym "NLGN3", "neuroligin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54413 ; - skos:exactMatch HGNC_symbol:NLGN3 ; + skos:exactMatch UMLS:C1422546, + UMLS:C1845540, + UMLS:C3151708, + HGNC:14289, + HGNC_symbol:NLGN3 ; biolink:category biolink:Gene . OMIM:300339 a owl:Class ; rdfs:label "PPP2R3B" ; IAO:0000142 PMID:10508479, PMID:10629059 ; - oboInOwl:hasDbXref UMLS:C1421981 ; oboInOwl:hasExactSynonym "PPP2R3B", "protein phosphatase 2, regulatory subunit b-double prime, beta", "protein phosphatase 2a, regulatory subunit, 48-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28227 ; - skos:exactMatch HGNC_symbol:PPP2R3B ; + skos:exactMatch UMLS:C1421981, + HGNC:13417, + HGNC_symbol:PPP2R3B ; biolink:category biolink:Gene . OMIM:300340 a owl:Class ; @@ -97773,13 +100077,14 @@ OMIM:300340 a owl:Class ; PMID:7927540, PMID:8575766, PMID:9933564 ; - oboInOwl:hasDbXref UMLS:C1416976 ; oboInOwl:hasExactSynonym "MAGEA5", "mage5", "melanoma antigen, family a, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4104 ; - skos:exactMatch HGNC_symbol:MAGEA5P ; + skos:exactMatch UMLS:C1416976, + HGNC:6803, + HGNC_symbol:MAGEA5P ; biolink:category biolink:Gene . OMIM:300341 a owl:Class ; @@ -97788,13 +100093,14 @@ OMIM:300341 a owl:Class ; PMID:7927540, PMID:8575766, PMID:9933564 ; - oboInOwl:hasDbXref UMLS:C1416979 ; oboInOwl:hasExactSynonym "MAGEA8", "mage8", "melanoma antigen, family a, 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4107 ; - skos:exactMatch HGNC_symbol:MAGEA8 ; + skos:exactMatch UMLS:C1416979, + HGNC:6806, + HGNC_symbol:MAGEA8 ; biolink:category biolink:Gene . OMIM:300342 a owl:Class ; @@ -97802,13 +100108,14 @@ OMIM:300342 a owl:Class ; IAO:0000142 PMID:15772651, PMID:7927540, PMID:8575766 ; - oboInOwl:hasDbXref UMLS:C1416980 ; oboInOwl:hasExactSynonym "MAGEA9", "mage9", "melanoma antigen, family a, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4108 ; - skos:exactMatch HGNC_symbol:MAGEA9 ; + skos:exactMatch UMLS:C1416980, + HGNC:6807, + HGNC_symbol:MAGEA9 ; biolink:category biolink:Gene . OMIM:300343 a owl:Class ; @@ -97816,13 +100123,14 @@ OMIM:300343 a owl:Class ; IAO:0000142 PMID:15772651, PMID:7927540, PMID:8575766 ; - oboInOwl:hasDbXref UMLS:C1416971 ; oboInOwl:hasExactSynonym "MAGEA10", "mage10", "melanoma antigen, family a, 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4109 ; - skos:exactMatch HGNC_symbol:MAGEA10 ; + skos:exactMatch UMLS:C1416971, + HGNC:6797, + HGNC_symbol:MAGEA10 ; biolink:category biolink:Gene . OMIM:300344 a owl:Class ; @@ -97830,13 +100138,14 @@ OMIM:300344 a owl:Class ; IAO:0000142 PMID:15772651, PMID:7927540, PMID:8575766 ; - oboInOwl:hasDbXref UMLS:C1416972 ; oboInOwl:hasExactSynonym "MAGEA11", "mage11", "melanoma antigen, family a, 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4110 ; - skos:exactMatch HGNC_symbol:MAGEA11 ; + skos:exactMatch UMLS:C1416972, + HGNC:6798, + HGNC_symbol:MAGEA11 ; biolink:category biolink:Gene . OMIM:300346 a owl:Class ; @@ -97844,37 +100153,40 @@ OMIM:300346 a owl:Class ; IAO:0000142 PMID:11780068, PMID:32494006, PMID:8849451 ; - oboInOwl:hasDbXref UMLS:C1415794 ; oboInOwl:hasExactSynonym "HTATSF1", "hiv-1 tat stimulatory factor 1", "tatsf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27336 ; - skos:exactMatch HGNC_symbol:HTATSF1 ; + skos:exactMatch UMLS:C1415794, + HGNC:5276, + HGNC_symbol:HTATSF1 ; biolink:category biolink:Gene . OMIM:300347 a owl:Class ; rdfs:label "DIAPH2AS1" ; IAO:0000142 PMID:7736777, PMID:8133036 ; - oboInOwl:hasDbXref UMLS:C1845876 ; oboInOwl:hasExactSynonym "DIAPH2AS1", "diaph2 antisense RNA 1", "early lymphoid activation gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10824 ; - skos:exactMatch HGNC_symbol:DIAPH2-AS1 ; + skos:exactMatch UMLS:C1845876, + HGNC:16972, + HGNC_symbol:DIAPH2-AS1 ; biolink:category biolink:Gene . OMIM:300348 a owl:Class ; rdfs:label "KLHL4" ; IAO:0000142 PMID:11401425 ; - oboInOwl:hasDbXref UMLS:C1416667 ; oboInOwl:hasExactSynonym "KLHL4", "kelch-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56062 ; - skos:exactMatch HGNC_symbol:KLHL4 ; + skos:exactMatch UMLS:C1416667, + HGNC:6355, + HGNC_symbol:KLHL4 ; biolink:category biolink:Gene . OMIM:300349 a owl:Class ; @@ -97882,13 +100194,14 @@ OMIM:300349 a owl:Class ; IAO:0000142 PMID:10414349, PMID:10449790, PMID:10804200 ; - oboInOwl:hasDbXref UMLS:C1422662 ; oboInOwl:hasExactSynonym "GABRQ", "gaba-a receptor, theta polypeptide", "gamma-aminobutyric acid receptor, theta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55879 ; - skos:exactMatch HGNC_symbol:GABRQ ; + skos:exactMatch UMLS:C1422662, + HGNC:14454, + HGNC_symbol:GABRQ ; biolink:category biolink:Gene . OMIM:300350 a owl:Class ; @@ -97899,13 +100212,14 @@ OMIM:300350 a owl:Class ; PMID:25712132, PMID:2571565 ; RO:0002525 CHR:9606chrXq23 ; - oboInOwl:hasDbXref UMLS:C1428903 ; oboInOwl:hasExactSynonym "CHRDL1", "chordin-like 1", "ventroptin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91851 ; - skos:exactMatch HGNC_symbol:CHRDL1 ; + skos:exactMatch UMLS:C1428903, + HGNC:29861, + HGNC_symbol:CHRDL1 ; biolink:category biolink:Gene . OMIM:300353 a owl:Class ; @@ -97914,14 +100228,15 @@ OMIM:300353 a owl:Class ; PMID:16530040, PMID:17016562, PMID:17051150 ; - oboInOwl:hasDbXref UMLS:C1538071 ; oboInOwl:hasExactSynonym "VSIG4", "complement receptor of the immunoglobulin superfamily", "immunoglobulin superfamily protein z39ig", "v-set and immunoglobulin domains-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11326 ; - skos:exactMatch HGNC_symbol:VSIG4 ; + skos:exactMatch UMLS:C1538071, + HGNC:17032, + HGNC_symbol:VSIG4 ; biolink:category biolink:Gene . OMIM:300356 a owl:Class ; @@ -97943,7 +100258,6 @@ OMIM:300356 a owl:Class ; PMID:8841189 ; RO:0002525 CHR:9606chrXq22.1 ; RO:0003303 OMIM:304700 ; - oboInOwl:hasDbXref UMLS:C1420740 ; oboInOwl:hasExactSynonym "TIMM8A", "deafness/dystonia peptide", "deafness/dystonia peptide 1", @@ -97952,7 +100266,9 @@ OMIM:300356 a owl:Class ; "translocase of inner mitochondrial membrane 8a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1678 ; - skos:exactMatch HGNC_symbol:TIMM8A ; + skos:exactMatch UMLS:C1420740, + HGNC:11817, + HGNC_symbol:TIMM8A ; biolink:category biolink:Gene . OMIM:300358 a owl:Class ; @@ -97962,27 +100278,29 @@ OMIM:300358 a owl:Class ; PMID:16275911, PMID:16275913, PMID:17975670 ; - oboInOwl:hasDbXref UMLS:C1538112 ; oboInOwl:hasExactSynonym "WNK3", "kiaa1566", "prkwnk3", "protein kinase, lysine-deficient 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65267 ; - skos:exactMatch HGNC_symbol:WNK3 ; + skos:exactMatch UMLS:C1538112, + HGNC:14543, + HGNC_symbol:WNK3 ; biolink:category biolink:Gene . OMIM:300359 a owl:Class ; rdfs:label "SAGE1" ; IAO:0000142 PMID:10919659, PMID:15772651 ; - oboInOwl:hasDbXref UMLS:C1539721 ; oboInOwl:hasExactSynonym "SAGE1", "sage", "sarcoma antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55511 ; - skos:exactMatch HGNC_symbol:SAGE1 ; + skos:exactMatch UMLS:C1539721, + HGNC:30369, + HGNC_symbol:SAGE1 ; biolink:category biolink:Gene . OMIM:300360 a owl:Class ; @@ -97994,13 +100312,14 @@ OMIM:300362 a owl:Class ; rdfs:label "ARMCX1" ; IAO:0000142 PMID:11162520, PMID:22569362 ; - oboInOwl:hasDbXref UMLS:C1538939 ; oboInOwl:hasExactSynonym "ARMCX1", "arm protein lost 1n epithelial cancers, 10 chromosome, 1", "armadillo repeat-containing protein, X-linked 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51309 ; - skos:exactMatch HGNC_symbol:ARMCX1 ; + skos:exactMatch UMLS:C1538939, + HGNC:18073, + HGNC_symbol:ARMCX1 ; biolink:category biolink:Gene . OMIM:300363 a owl:Class ; @@ -98008,27 +100327,29 @@ OMIM:300363 a owl:Class ; IAO:0000142 PMID:11162520, PMID:22569362, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1538940 ; oboInOwl:hasExactSynonym "ARMCX2", "arm protein lost 1n epithelial cancers, 10 chromosome, 2", "armadillo repeat-containing protein, X-linked 2", "kiaa0512" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9823 ; - skos:exactMatch HGNC_symbol:ARMCX2 ; + skos:exactMatch UMLS:C1538940, + HGNC:16869, + HGNC_symbol:ARMCX2 ; biolink:category biolink:Gene . OMIM:300364 a owl:Class ; rdfs:label "ARMCX3" ; IAO:0000142 PMID:11162520, PMID:22569362 ; - oboInOwl:hasDbXref UMLS:C1538941 ; oboInOwl:hasExactSynonym "ARMCX3", "arm protein lost 1n epithelial cancers, 10 chromosome, 3", "armadillo repeat-containing protein, X-linked 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51566 ; - skos:exactMatch HGNC_symbol:ARMCX3 ; + skos:exactMatch UMLS:C1538941, + HGNC:24065, + HGNC_symbol:ARMCX3 ; biolink:category biolink:Gene . OMIM:300365 a owl:Class ; @@ -98062,13 +100383,14 @@ OMIM:300365 a owl:Class ; PMID:32706371 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:301051 ; - oboInOwl:hasDbXref UMLS:C1336639, - UMLS:C5436946 ; oboInOwl:hasExactSynonym "TLR7", "toll-like receptor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51284 ; - skos:exactMatch HGNC_symbol:TLR7 ; + skos:exactMatch UMLS:C1336639, + UMLS:C5436946, + HGNC:15631, + HGNC_symbol:TLR7 ; biolink:category biolink:Gene . OMIM:300366 a owl:Class ; @@ -98080,12 +100402,13 @@ OMIM:300366 a owl:Class ; PMID:16123302, PMID:16286015, PMID:23520111 ; - oboInOwl:hasDbXref UMLS:C1336640 ; oboInOwl:hasExactSynonym "TLR8", "toll-like receptor 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51311 ; - skos:exactMatch HGNC_symbol:TLR8 ; + skos:exactMatch UMLS:C1336640, + HGNC:15632, + HGNC_symbol:TLR8 ; biolink:category biolink:Gene . OMIM:300368 a owl:Class ; @@ -98095,13 +100418,14 @@ OMIM:300368 a owl:Class ; PMID:30335141 ; RO:0002525 CHR:9606chrXp11.3 ; RO:0003303 OMIM:301024 ; - oboInOwl:hasDbXref UMLS:C1424759 ; oboInOwl:hasExactSynonym "SLC9A7", "sodium/hydrogen exchanger 7", "solute carrier family 9, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84679 ; - skos:exactMatch HGNC_symbol:SLC9A7 ; + skos:exactMatch UMLS:C1424759, + HGNC:17123, + HGNC_symbol:SLC9A7 ; biolink:category biolink:Gene . OMIM:300369 a owl:Class ; @@ -98109,13 +100433,14 @@ OMIM:300369 a owl:Class ; IAO:0000142 PMID:11714101 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:301077 ; - oboInOwl:hasDbXref UMLS:C1423743 ; oboInOwl:hasExactSynonym "GCNA", "acidic repeat-containing gene", "germ cell nuclear acidic peptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93953 ; - skos:exactMatch HGNC_symbol:GCNA ; + skos:exactMatch UMLS:C1423743, + HGNC:15805, + HGNC_symbol:GCNA ; biolink:category biolink:Gene . OMIM:300370 a owl:Class ; @@ -98123,12 +100448,13 @@ OMIM:300370 a owl:Class ; IAO:0000142 PMID:10391904, PMID:11278605, PMID:24013173 ; - oboInOwl:hasDbXref UMLS:C1336671 ; oboInOwl:hasExactSynonym "3-prime repair exonuclease 2", "TREX2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11219 ; - skos:exactMatch HGNC_symbol:TREX2 ; + skos:exactMatch UMLS:C1336671, + HGNC:12270, + HGNC_symbol:TREX2 ; biolink:category biolink:Gene . OMIM:300371 a owl:Class ; @@ -98193,13 +100519,14 @@ OMIM:300371 a owl:Class ; PMID:9702690 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300100 ; - oboInOwl:hasDbXref UMLS:C1412084 ; oboInOwl:hasExactSynonym "ABCD1", "adrenoleukodystrophy protein", "atp-binding cassette, subfamily d, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:215 ; - skos:exactMatch HGNC_symbol:ABCD1 ; + skos:exactMatch UMLS:C1412084, + HGNC:61, + HGNC_symbol:ABCD1 ; biolink:category biolink:Gene . OMIM:300374 a owl:Class ; @@ -98213,25 +100540,27 @@ OMIM:300374 a owl:Class ; PMID:29636373 ; RO:0002525 CHR:9606chrXp22.12 ; RO:0003303 OMIM:300310 ; - oboInOwl:hasDbXref UMLS:C1422243 ; oboInOwl:hasExactSynonym "SH3KBP1", "cbl-interacting protein, 85-kd", "sh3-domain kinase-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30011 ; - skos:exactMatch HGNC_symbol:SH3KBP1 ; + skos:exactMatch UMLS:C1422243, + HGNC:13867, + HGNC_symbol:SH3KBP1 ; biolink:category biolink:Gene . OMIM:300375 a owl:Class ; rdfs:label "CHST7" ; IAO:0000142 PMID:10781596 ; - oboInOwl:hasDbXref UMLS:C1422212 ; oboInOwl:hasExactSynonym "CHST7", "carbohydrate sulfotransferase 7", "chondroitin 6-sulfotransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56548 ; - skos:exactMatch HGNC_symbol:CHST7 ; + skos:exactMatch UMLS:C1422212, + HGNC:13817, + HGNC_symbol:CHST7 ; biolink:category biolink:Gene . OMIM:300376 a owl:Class ; @@ -98281,11 +100610,11 @@ OMIM:300376 a owl:Class ; PMID:880066, PMID:975594, PMID:9800909 ; - oboInOwl:hasDbXref UMLS:C0917713 ; oboInOwl:hasExactSynonym "BMD", "becker muscular dystrophy", "muscular dystrophy, becker iia", "muscular dystrophy, pseudohypertrophic progressive, becker iia" ; + skos:exactMatch UMLS:C0917713 ; biolink:category biolink:Disease . OMIM:300377 a owl:Class ; @@ -98535,13 +100864,14 @@ OMIM:300377 a owl:Class ; PMID:9887326 ; RO:0002525 CHR:9606chrXp21.2-p21.1 ; RO:0003303 OMIM:310200 ; - oboInOwl:hasDbXref UMLS:C1414083 ; oboInOwl:hasExactSynonym "DMD", "apo-dystrophin 1", "dystrophin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1756 ; - skos:exactMatch HGNC_symbol:DMD ; + skos:exactMatch UMLS:C1414083, + HGNC:2928, + HGNC_symbol:DMD ; biolink:category biolink:Gene . OMIM:300379 a owl:Class ; @@ -98560,27 +100890,29 @@ OMIM:300379 a owl:Class ; PMID:29728705 ; RO:0002525 CHR:9606chrXq13.2 ; RO:0003303 OMIM:300978 ; - oboInOwl:hasDbXref UMLS:C1421987 ; oboInOwl:hasExactSynonym "RLIM", "ring finger protein 12", "ring finger protein, 51m domain-interacting", "ring zinc finger protein ny-ren-43 antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51132 ; - skos:exactMatch HGNC_symbol:RLIM ; + skos:exactMatch UMLS:C1421987, + HGNC:13429, + HGNC_symbol:RLIM ; biolink:category biolink:Gene . OMIM:300380 a owl:Class ; rdfs:label "CTPS2" ; IAO:0000142 PMID:10899599 ; - oboInOwl:hasDbXref UMLS:C1413805 ; oboInOwl:hasExactSynonym "CTPS2", "ctp synthase 2", "ctp synthetase 2", "cytidine 5-prime triphosphate synthetase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56474 ; - skos:exactMatch HGNC_symbol:CTPS2 ; + skos:exactMatch UMLS:C1413805, + HGNC:2520, + HGNC_symbol:CTPS2 ; biolink:category biolink:Gene . OMIM:300381 a owl:Class ; @@ -98589,12 +100921,13 @@ OMIM:300381 a owl:Class ; PMID:7974745, PMID:8828037, PMID:9268636 ; - oboInOwl:hasDbXref UMLS:C1421675 ; oboInOwl:hasExactSynonym "ZNF185", "zinc finger protein 185" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7739 ; - skos:exactMatch HGNC_symbol:ZNF185 ; + skos:exactMatch UMLS:C1421675, + HGNC:12976, + HGNC_symbol:ZNF185 ; biolink:category biolink:Gene . OMIM:300382 a owl:Class ; @@ -98654,19 +100987,20 @@ OMIM:300382 a owl:Class ; PMID:9307258 ; RO:0002525 CHR:9606chrXp21.3 ; RO:0003303 OMIM:300004 ; - oboInOwl:hasDbXref UMLS:C0796124, + oboInOwl:hasExactSynonym "ARX", + "aristaless-related homeobox, X-linked" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:170302 ; + skos:exactMatch UMLS:C0796124, UMLS:C0796244, UMLS:C0796250, UMLS:C1425272, UMLS:C1846171, UMLS:C1846172, UMLS:C3463992, - UMLS:C4015968 ; - oboInOwl:hasExactSynonym "ARX", - "aristaless-related homeobox, X-linked" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:170302 ; - skos:exactMatch HGNC_symbol:ARX ; + UMLS:C4015968, + HGNC:18060, + HGNC_symbol:ARX ; biolink:category biolink:Gene . OMIM:300383 a owl:Class ; @@ -98690,7 +101024,6 @@ OMIM:300383 a owl:Class ; PMID:8871668 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:312060 ; - oboInOwl:hasDbXref UMLS:C1418482 ; oboInOwl:hasExactSynonym "CFP", "complement factor properdin", "factor p", @@ -98698,7 +101031,9 @@ OMIM:300383 a owl:Class ; "properdin p factor, complement" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5199 ; - skos:exactMatch HGNC_symbol:CFP ; + skos:exactMatch UMLS:C1418482, + HGNC:8864, + HGNC_symbol:CFP ; biolink:category biolink:Gene . OMIM:300384 a owl:Class ; @@ -98736,25 +101071,27 @@ OMIM:300384 a owl:Class ; PMID:9536090 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:310300 ; - oboInOwl:hasDbXref UMLS:C1414386 ; oboInOwl:hasExactSynonym "EMD", "emerin", "sta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2010 ; - skos:exactMatch HGNC_symbol:EMD ; + skos:exactMatch UMLS:C1414386, + HGNC:3331, + HGNC_symbol:EMD ; biolink:category biolink:Gene . OMIM:300385 a owl:Class ; rdfs:label "NSBP1" ; IAO:0000142 PMID:10692437, PMID:11161810 ; - oboInOwl:hasDbXref UMLS:C1417854 ; oboInOwl:hasExactSynonym "NSBP1", "nucleosomal binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79366 ; - skos:exactMatch HGNC_symbol:HMGN5 ; + skos:exactMatch UMLS:C1417854, + HGNC:8013, + HGNC_symbol:HMGN5 ; biolink:category biolink:Gene . OMIM:300386 a owl:Class ; @@ -98794,7 +101131,6 @@ OMIM:300386 a owl:Class ; PMID:9746782 ; RO:0002525 CHR:9606chrXq26.3 ; RO:0003303 OMIM:308230 ; - oboInOwl:hasDbXref UMLS:C1539082 ; oboInOwl:hasExactSynonym "CD40LG", "cd154", "cd40 antigen ligand", @@ -98804,7 +101140,9 @@ OMIM:300386 a owl:Class ; "tumor necrosis factor ligand superfamily, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:959 ; - skos:exactMatch HGNC_symbol:CD40LG ; + skos:exactMatch UMLS:C1539082, + HGNC:11935, + HGNC_symbol:CD40LG ; biolink:category biolink:Gene . OMIM:300389 a owl:Class ; @@ -98843,7 +101181,6 @@ OMIM:300390 a owl:Class ; PMID:9585588 ; RO:0002525 CHR:9606chrXq21.2 ; RO:0003303 OMIM:303100 ; - oboInOwl:hasDbXref UMLS:C1413394 ; oboInOwl:hasExactSynonym "CHM", "chm gene", "chm rab escort protein", @@ -98853,7 +101190,9 @@ OMIM:300390 a owl:Class ; "rab gg transferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1121 ; - skos:exactMatch HGNC_symbol:CHM ; + skos:exactMatch UMLS:C1413394, + HGNC:1940, + HGNC_symbol:CHM ; biolink:category biolink:Gene . OMIM:300391 a owl:Class ; @@ -98888,7 +101227,6 @@ OMIM:300391 a owl:Class ; PMID:9188994 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:301200 ; - oboInOwl:hasDbXref UMLS:C1412382 ; oboInOwl:hasExactSynonym "AMELX", "algn", "amelogenin", @@ -98896,7 +101234,9 @@ OMIM:300391 a owl:Class ; "amgl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:265 ; - skos:exactMatch HGNC_symbol:AMELX ; + skos:exactMatch UMLS:C1412382, + HGNC:461, + HGNC_symbol:AMELX ; biolink:category biolink:Gene . OMIM:300392 a owl:Class ; @@ -98964,14 +101304,15 @@ OMIM:300392 a owl:Class ; PMID:9697838 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:301000 ; - oboInOwl:hasDbXref UMLS:C1421478 ; oboInOwl:hasExactSynonym "WAS", "was gene", "was protein", "wasp actin nucleation promoting factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7454 ; - skos:exactMatch HGNC_symbol:WAS ; + skos:exactMatch UMLS:C1421478, + HGNC:12731, + HGNC_symbol:WAS ; biolink:category biolink:Gene . OMIM:300393 a owl:Class ; @@ -98986,13 +101327,14 @@ OMIM:300393 a owl:Class ; PMID:27245663 ; RO:0002525 CHR:9606chrXq26.3 ; RO:0003303 OMIM:300943 ; - oboInOwl:hasDbXref UMLS:C1423091 ; oboInOwl:hasExactSynonym "GPR101", "g protein-coupled receptor 101", "gpcr101" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83550 ; - skos:exactMatch HGNC_symbol:GPR101 ; + skos:exactMatch UMLS:C1423091, + HGNC:14963, + HGNC_symbol:GPR101 ; biolink:category biolink:Gene . OMIM:300394 a owl:Class ; @@ -99026,14 +101368,15 @@ OMIM:300394 a owl:Class ; PMID:9382097 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:302060 ; - oboInOwl:hasDbXref UMLS:C1336578 ; oboInOwl:hasExactSynonym "TAFAZZIN", "g4.5", "tafazzin, phospholipid-lysophospholipid transacylase", "taz" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6901 ; - skos:exactMatch HGNC_symbol:TAFAZZIN ; + skos:exactMatch UMLS:C1336578, + HGNC:11577, + HGNC_symbol:TAFAZZIN ; biolink:category biolink:Gene . OMIM:300395 a owl:Class ; @@ -99045,13 +101388,14 @@ OMIM:300395 a owl:Class ; PMID:8825049 ; RO:0002525 CHR:9606chrXq25 ; RO:0003303 OMIM:300957 ; - oboInOwl:hasDbXref UMLS:C1425990 ; oboInOwl:hasExactSynonym "THOC2", "tho complex, subunit 2", "tho2, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57187 ; - skos:exactMatch HGNC_symbol:THOC2 ; + skos:exactMatch UMLS:C1425990, + HGNC:19073, + HGNC_symbol:THOC2 ; biolink:category biolink:Gene . OMIM:300396 a owl:Class ; @@ -99059,14 +101403,15 @@ OMIM:300396 a owl:Class ; IAO:0000142 PMID:10399963, PMID:11709543, PMID:9626360 ; - oboInOwl:hasDbXref UMLS:C1413788 ; oboInOwl:hasExactSynonym "CTAG2", "cancer/testis antigen 2", "ctl-recognized antigen on melanoma", "lage1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30848 ; - skos:exactMatch HGNC_symbol:CTAG2 ; + skos:exactMatch UMLS:C1413788, + HGNC:2492, + HGNC_symbol:CTAG2 ; biolink:category biolink:Gene . OMIM:300397 a owl:Class ; @@ -99082,14 +101427,15 @@ OMIM:300398 a owl:Class ; PMID:8706661 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300475 ; - oboInOwl:hasDbXref UMLS:C1424489 ; oboInOwl:hasExactSynonym "BCAP31", "b-cell receptor-associated protein 31", "bap31", "dxs1357e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10134 ; - skos:exactMatch HGNC_symbol:BCAP31 ; + skos:exactMatch UMLS:C1424489, + HGNC:16695, + HGNC_symbol:BCAP31 ; biolink:category biolink:Gene . OMIM:300399 a owl:Class ; @@ -99097,14 +101443,15 @@ OMIM:300399 a owl:Class ; IAO:0000142 PMID:10632593, PMID:11719503, PMID:24043826 ; - oboInOwl:hasDbXref UMLS:C1424886 ; oboInOwl:hasExactSynonym "PCSK1N", "biglen", "proprotein convertase, subtilisin/kexin-type, 1, inhibitor of", "prosaas" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27344 ; - skos:exactMatch HGNC_symbol:PCSK1N ; + skos:exactMatch UMLS:C1424886, + HGNC:17301, + HGNC_symbol:PCSK1N ; biolink:category biolink:Gene . OMIM:300401 a owl:Class ; @@ -99176,13 +101523,6 @@ OMIM:300401 a owl:Class ; PMID:9934976 ; RO:0002525 CHR:9606chrXq22.2 ; RO:0003303 OMIM:312920 ; - oboInOwl:hasDbXref UMLS:C0205711, - UMLS:C0751604, - UMLS:C0751915, - UMLS:C1418654, - UMLS:C4015968, - UMLS:C4016483, - UMLS:C4016484 ; oboInOwl:hasExactSynonym "PLP1", "dm20", "lipophilin", @@ -99190,18 +101530,27 @@ OMIM:300401 a owl:Class ; "proteolipid protein, myelin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5354 ; - skos:exactMatch HGNC_symbol:PLP1 ; + skos:exactMatch UMLS:C0205711, + UMLS:C0751604, + UMLS:C0751915, + UMLS:C1418654, + UMLS:C4015968, + UMLS:C4016483, + UMLS:C4016484, + HGNC:9086, + HGNC_symbol:PLP1 ; biolink:category biolink:Gene . OMIM:300402 a owl:Class ; rdfs:label "LDOC1" ; IAO:0000142 PMID:10403563 ; - oboInOwl:hasDbXref UMLS:C1416823 ; oboInOwl:hasExactSynonym "LDOC1", "leucine zipper, downregulated 1n cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23641 ; - skos:exactMatch HGNC_symbol:LDOC1 ; + skos:exactMatch UMLS:C1416823, + HGNC:6548, + HGNC_symbol:LDOC1 ; biolink:category biolink:Gene . OMIM:300403 a owl:Class ; @@ -99212,14 +101561,15 @@ OMIM:300403 a owl:Class ; PMID:26741492 ; RO:0002525 CHR:9606chrXp11.3 ; RO:0003303 OMIM:300952 ; - oboInOwl:hasDbXref UMLS:C1538052 ; oboInOwl:hasExactSynonym "NADH dehydrogenase 1 beta subcomplex, 11 neuronal protein, 17.3-kd", "NDUFB11", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 11", "p17.3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54539 ; - skos:exactMatch HGNC_symbol:NDUFB11 ; + skos:exactMatch UMLS:C1538052, + HGNC:20372, + HGNC_symbol:NDUFB11 ; biolink:category biolink:Gene . OMIM:300404 a owl:Class ; @@ -99232,33 +101582,34 @@ OMIM:300405 a owl:Class ; PMID:22581972, PMID:24863632, PMID:25044830 ; - oboInOwl:hasDbXref UMLS:C1538770 ; oboInOwl:hasExactSynonym "RAB40AL", "ras-associated protein rab40a-like", "ras-like gtpase gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282808 ; - skos:exactMatch HGNC_symbol:RAB40AL ; + skos:exactMatch UMLS:C1538770, + HGNC:25410, + HGNC_symbol:RAB40AL ; biolink:category biolink:Gene . OMIM:300407 a owl:Class ; rdfs:label "PABPC5" ; IAO:0000142 PMID:11374897 ; - oboInOwl:hasDbXref UMLS:C1422117 ; oboInOwl:hasExactSynonym "PABPC5", "poly(a)-binding protein 5", "polyadenylate-binding protein 5", "polyadenylate-binding protein, cytoplasmic, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140886 ; - skos:exactMatch HGNC_symbol:PABPC5 ; + skos:exactMatch UMLS:C1422117, + HGNC:13629, + HGNC_symbol:PABPC5 ; biolink:category biolink:Gene . OMIM:300409 a owl:Class ; rdfs:label "MORF4L2" ; IAO:0000142 PMID:7584026, PMID:9891081 ; - oboInOwl:hasDbXref UMLS:C1424591 ; oboInOwl:hasExactSynonym "MORF4L2", "kiaa0026", "morf-related gene 10", @@ -99266,7 +101617,9 @@ OMIM:300409 a owl:Class ; "mortality factor 4-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9643 ; - skos:exactMatch HGNC_symbol:MORF4L2 ; + skos:exactMatch UMLS:C1424591, + HGNC:16849, + HGNC_symbol:MORF4L2 ; biolink:category biolink:Gene . OMIM:300410 a owl:Class ; @@ -99277,25 +101630,27 @@ OMIM:300410 a owl:Class ; PMID:16678097, PMID:17699752, PMID:22362771 ; - oboInOwl:hasDbXref UMLS:C1425094 ; oboInOwl:hasExactSynonym "AMOT", "angiomotin", "kiaa1071" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154796 ; - skos:exactMatch HGNC_symbol:AMOT ; + skos:exactMatch UMLS:C1425094, + HGNC:17810, + HGNC_symbol:AMOT ; biolink:category biolink:Gene . OMIM:300411 a owl:Class ; rdfs:label "TGIF2LX" ; IAO:0000142 PMID:12226713 ; - oboInOwl:hasDbXref UMLS:C1425609 ; oboInOwl:hasExactSynonym "TGIF2LX", "tgiflx", "transforming growth factor-beta-induced factor 2-like, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90316 ; - skos:exactMatch HGNC_symbol:TGIF2LX ; + skos:exactMatch UMLS:C1425609, + HGNC:18570, + HGNC_symbol:TGIF2LX ; biolink:category biolink:Gene . OMIM:300412 a owl:Class ; @@ -99309,14 +101664,15 @@ OMIM:300413 a owl:Class ; PMID:11929853, PMID:15257297, PMID:20709755 ; - oboInOwl:hasDbXref UMLS:C1427004 ; oboInOwl:hasExactSynonym "MBNL3", "muscleblind-like protein 3", "muscleblind-like protein, X-linked", "muscleblind-like splicing regulator 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55796 ; - skos:exactMatch HGNC_symbol:MBNL3 ; + skos:exactMatch UMLS:C1427004, + HGNC:20564, + HGNC_symbol:MBNL3 ; biolink:category biolink:Gene . OMIM:300414 a owl:Class ; @@ -99331,12 +101687,13 @@ OMIM:300414 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chrXq26.2 ; RO:0003303 OMIM:301900 ; - oboInOwl:hasDbXref UMLS:C1425343 ; oboInOwl:hasExactSynonym "PHF6", "phd finger protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84295 ; - skos:exactMatch HGNC_symbol:PHF6 ; + skos:exactMatch UMLS:C1425343, + HGNC:18145, + HGNC_symbol:PHF6 ; biolink:category biolink:Gene . OMIM:300415 a owl:Class ; @@ -99373,53 +101730,56 @@ OMIM:300415 a owl:Class ; PMID:9781038, PMID:9828128 ; RO:0002525 CHR:9606chrXq28 ; - RO:0003303 OMIM:310400 ; - oboInOwl:hasDbXref UMLS:C1417434 ; oboInOwl:hasExactSynonym "MTM1", "myotubularin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4534 ; - skos:exactMatch HGNC_symbol:MTM1 ; + skos:exactMatch UMLS:C1417434, + HGNC:7448, + HGNC_symbol:MTM1 ; biolink:category biolink:Gene . OMIM:300416 a owl:Class ; rdfs:label "XAGE2" ; IAO:0000142 PMID:10197611, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C1538119 ; oboInOwl:hasExactSynonym "XAGE2", "g antigen, family d, 3", "x antigen family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9502 ; - skos:exactMatch HGNC_symbol:XAGE2 ; + skos:exactMatch UMLS:C1538119, + HGNC:4112, + HGNC_symbol:XAGE2 ; biolink:category biolink:Gene . OMIM:300418 a owl:Class ; rdfs:label "GSPT2" ; IAO:0000142 PMID:10575220, PMID:9712840 ; - oboInOwl:hasDbXref UMLS:C1415325 ; oboInOwl:hasExactSynonym "GSPT2", "g1- to s-phase transition 2", "gst2, yeast, homolog of", "peptide chain release factor 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23708 ; - skos:exactMatch HGNC_symbol:GSPT2 ; + skos:exactMatch UMLS:C1415325, + HGNC:4622, + HGNC_symbol:GSPT2 ; biolink:category biolink:Gene . OMIM:300420 a owl:Class ; rdfs:label "PJA1" ; IAO:0000142 PMID:11959851, PMID:12036302 ; - oboInOwl:hasDbXref UMLS:C1424463 ; oboInOwl:hasExactSynonym "PJA1", "praja 1", "praja ring finger ubiquitin ligase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64219 ; - skos:exactMatch HGNC_symbol:PJA1 ; + skos:exactMatch UMLS:C1424463, + HGNC:16648, + HGNC_symbol:PJA1 ; biolink:category biolink:Gene . OMIM:300421 a owl:Class ; @@ -99442,10 +101802,6 @@ OMIM:300427 a owl:Class ; PMID:18434543 ; RO:0002525 CHR:9606chrXp22.32-p22.31 ; RO:0003303 OMIM:300495 ; - oboInOwl:hasDbXref UMLS:C1136249, - UMLS:C1538067, - UMLS:C1845539, - UMLS:C3151722 ; oboInOwl:hasExactSynonym "NLGN4", "kiaa1260", "neuroligin 4", @@ -99453,19 +101809,25 @@ OMIM:300427 a owl:Class ; "nlgn4x" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57502 ; - skos:exactMatch HGNC_symbol:NLGN4X ; + skos:exactMatch UMLS:C1136249, + UMLS:C1538067, + UMLS:C1845539, + UMLS:C3151722, + HGNC:14287, + HGNC_symbol:NLGN4X ; biolink:category biolink:Gene . OMIM:300428 a owl:Class ; - rdfs:label "mental retardation, X-linked 2" ; + rdfs:label "intellectual developmental disorder, X-linked 2" ; IAO:0000142 PMID:2602357, PMID:3177465, PMID:6839531 ; RO:0002525 CHR:9606chrXp22.3 ; - oboInOwl:hasDbXref UMLS:C0796207 ; - oboInOwl:hasExactSynonym "MRX2", + oboInOwl:hasExactSynonym "XLID2", + "intellectual developmental disorder, X-linked 2", "mental retardation, X-linked 2" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796207 ; biolink:category biolink:Disease . OMIM:300429 a owl:Class ; @@ -99480,8 +101842,6 @@ OMIM:300429 a owl:Class ; PMID:9455477 ; RO:0002525 CHR:9606chrXq11.1 ; RO:0003303 OMIM:300607 ; - oboInOwl:hasDbXref UMLS:C1422758, - UMLS:C1845102 ; oboInOwl:hasExactSynonym "ARHGEF9", "collybistin", "kiaa0424", @@ -99489,7 +101849,10 @@ OMIM:300429 a owl:Class ; "rho guanine nucleotide exchange factor 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23229 ; - skos:exactMatch HGNC_symbol:ARHGEF9 ; + skos:exactMatch UMLS:C1422758, + UMLS:C1845102, + HGNC:14561, + HGNC_symbol:ARHGEF9 ; biolink:category biolink:Gene . OMIM:300430 a owl:Class ; @@ -99501,10 +101864,10 @@ OMIM:300431 a owl:Class ; IAO:0000142 PMID:27848077, PMID:4025397, PMID:7677138 ; - oboInOwl:hasDbXref UMLS:C0796206, - ORPHA:1193 ; oboInOwl:hasExactSynonym "atkin syndrome", - "atkin-flaitz syndrome" . + "atkin-flaitz syndrome" ; + skos:exactMatch UMLS:C0796206, + ORPHA:1193 . OMIM:300432 a owl:Class ; IAO:0100001 OMIM:308350 ; @@ -99513,12 +101876,13 @@ OMIM:300432 a owl:Class ; OMIM:300435 a owl:Class ; rdfs:label "PGRMC1" ; IAO:0000142 PMID:9705155 ; - oboInOwl:hasDbXref UMLS:C1423971 ; oboInOwl:hasExactSynonym "PGRMC1", "progesterone receptor membrane component 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10857 ; - skos:exactMatch HGNC_symbol:PGRMC1 ; + skos:exactMatch UMLS:C1423971, + HGNC:16090, + HGNC_symbol:PGRMC1 ; biolink:category biolink:Gene . OMIM:300436 a owl:Class ; @@ -99527,11 +101891,11 @@ OMIM:300436 a owl:Class ; PMID:8737982, PMID:9783701 ; RO:0002525 CHR:9606chrXq25-q26 ; - oboInOwl:hasDbXref UMLS:C1845526 ; oboInOwl:hasExactSynonym "XLID46", "intellectual developmental disorder, X-linked 46", "mental retardation, X-linked 46" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845526 ; biolink:category biolink:Disease . OMIM:300437 a owl:Class ; @@ -99540,14 +101904,15 @@ OMIM:300437 a owl:Class ; PMID:6322122, PMID:6356358, PMID:6843651 ; - oboInOwl:hasDbXref UMLS:C1415714 ; oboInOwl:hasExactSynonym "ERAS", "embryonic stem cell-expressed ras", "v-ha-ras harvey rat sarcoma viral oncogene homolog 2", "v-ha-ras harvey rat sarcoma viral oncogene homolog pseudogene, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3266 ; - skos:exactMatch HGNC_symbol:ERAS ; + skos:exactMatch UMLS:C1415714, + HGNC:5174, + HGNC_symbol:ERAS ; biolink:category biolink:Gene . OMIM:300439 a owl:Class ; @@ -99555,13 +101920,14 @@ OMIM:300439 a owl:Class ; IAO:0000142 PMID:12705856, PMID:14661020, PMID:19414743 ; - oboInOwl:hasDbXref UMLS:C1427368 ; oboInOwl:hasExactSynonym "RNF128", "gene related to anergy 1n lymphocytes", "ring finger protein 128" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79589 ; - skos:exactMatch HGNC_symbol:RNF128 ; + skos:exactMatch UMLS:C1427368, + HGNC:21153, + HGNC_symbol:RNF128 ; biolink:category biolink:Gene . OMIM:300440 a owl:Class ; @@ -99569,7 +101935,6 @@ OMIM:300440 a owl:Class ; IAO:0000142 PMID:10562553, PMID:12381793, PMID:9224902 ; - oboInOwl:hasDbXref UMLS:C1538066 ; oboInOwl:hasExactSynonym "NKRF", "itba4", "nfkb-repressing factor", @@ -99577,13 +101942,14 @@ OMIM:300440 a owl:Class ; "nuclear factor kappa-b-repressing factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55922 ; - skos:exactMatch HGNC_symbol:NKRF ; + skos:exactMatch UMLS:C1538066, + HGNC:19374, + HGNC_symbol:NKRF ; biolink:category biolink:Gene . OMIM:300441 a owl:Class ; rdfs:label "SASH3" ; IAO:0000142 PMID:11470164 ; - oboInOwl:hasDbXref UMLS:C1423878 ; oboInOwl:hasExactSynonym "SASH3", "chromosome 10 open reading frame 9", "hematopoietic adaptor containing sh3 and sam domains 2", @@ -99592,7 +101958,9 @@ OMIM:300441 a owl:Class ; "sterile alpha motif- and sh3 domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54440 ; - skos:exactMatch HGNC_symbol:SASH3 ; + skos:exactMatch UMLS:C1423878, + HGNC:15975, + HGNC_symbol:SASH3 ; biolink:category biolink:Gene . OMIM:300442 a owl:Class ; @@ -99602,26 +101970,28 @@ OMIM:300442 a owl:Class ; OMIM:300443 a owl:Class ; rdfs:label "SLC7A3" ; IAO:0000142 PMID:11591158 ; - oboInOwl:hasDbXref UMLS:C1420223 ; oboInOwl:hasExactSynonym "SLC7A3", "cationic amino acid transporter 3", "solute carrier family 7 (cationic amino acid transporter, y+ system), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84889 ; - skos:exactMatch HGNC_symbol:SLC7A3 ; + skos:exactMatch UMLS:C1420223, + HGNC:11061, + HGNC_symbol:SLC7A3 ; biolink:category biolink:Gene . OMIM:300444 a owl:Class ; rdfs:label "SLC6A14" ; IAO:0000142 PMID:10446133 ; - oboInOwl:hasDbXref UMLS:C1420211 ; oboInOwl:hasExactSynonym "SLC6A14", "amino acid transporter b(0+)", "atb(0+)", "solute carrier family 6 (neurotransmitter transporter), member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11254 ; - skos:exactMatch HGNC_symbol:SLC6A14 ; + skos:exactMatch UMLS:C1420211, + HGNC:11047, + HGNC_symbol:SLC6A14 ; biolink:category biolink:Gene . OMIM:300445 a owl:Class ; @@ -99631,7 +102001,6 @@ OMIM:300445 a owl:Class ; PMID:20197778, PMID:22795134, PMID:23002134 ; - oboInOwl:hasDbXref UMLS:C1539628 ; oboInOwl:hasExactSynonym "H2AB3", "h2a histone family, member B", "h2a histone family, member b3", @@ -99639,7 +102008,9 @@ OMIM:300445 a owl:Class ; "h2a.b variant histone 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83740 ; - skos:exactMatch HGNC_symbol:H2AB3 ; + skos:exactMatch UMLS:C1539628, + HGNC:14455, + HGNC_symbol:H2AB3 ; biolink:category biolink:Gene . OMIM:300447 a owl:Class ; @@ -99649,13 +102020,14 @@ OMIM:300447 a owl:Class ; PMID:7958444, PMID:8786129, PMID:9344676 ; - oboInOwl:hasDbXref UMLS:C1845514 ; oboInOwl:hasExactSynonym "RHOXF2", "homeobox protein, pepp subfamily, 2", "rhox homeobox family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84528 ; - skos:exactMatch HGNC_symbol:RHOXF2 ; + skos:exactMatch UMLS:C1845514, + HGNC:30011, + HGNC_symbol:RHOXF2 ; biolink:category biolink:Gene . OMIM:300449 a owl:Class ; @@ -99665,13 +102037,14 @@ OMIM:300449 a owl:Class ; OMIM:300450 a owl:Class ; rdfs:label "FATE1" ; IAO:0000142 PMID:11694338 ; - oboInOwl:hasDbXref UMLS:C1539479 ; oboInOwl:hasExactSynonym "FATE1", "fate", "fetal and adult testis-expressed gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89885 ; - skos:exactMatch HGNC_symbol:FATE1 ; + skos:exactMatch UMLS:C1539479, + HGNC:24683, + HGNC_symbol:FATE1 ; biolink:category biolink:Gene . OMIM:300451 a owl:Class ; @@ -99714,7 +102087,6 @@ OMIM:300451 a owl:Class ; PMID:9856856 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:313500 ; - oboInOwl:hasDbXref UMLS:C1539327 ; oboInOwl:hasExactSynonym "EDA", "ectodysplasin", "ectodysplasin a", @@ -99726,19 +102098,22 @@ OMIM:300451 a owl:Class ; "eda1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1896 ; - skos:exactMatch HGNC_symbol:EDA ; + skos:exactMatch UMLS:C1539327, + HGNC:3157, + HGNC_symbol:EDA ; biolink:category biolink:Gene . OMIM:300452 a owl:Class ; rdfs:label "INGX" ; IAO:0000142 PMID:10626813 ; - oboInOwl:hasDbXref UMLS:C1537408 ; oboInOwl:hasExactSynonym "INGX", "inhibitor of growth 2, formerly", "inhibitor of growth, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27160 ; - skos:exactMatch HGNC_symbol:INGX ; + skos:exactMatch UMLS:C1537408, + HGNC:6064, + HGNC_symbol:INGX ; biolink:category biolink:Gene . OMIM:300453 a owl:Class ; @@ -99749,8 +102124,6 @@ OMIM:300453 a owl:Class ; PMID:9339379 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300261 ; - oboInOwl:hasDbXref UMLS:C1539454, - UMLS:C1846057 ; oboInOwl:hasExactSynonym "9f", "FAM50A", "dxs9928e", @@ -99759,7 +102132,10 @@ OMIM:300453 a owl:Class ; "xap5 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9130 ; - skos:exactMatch HGNC_symbol:FAM50A ; + skos:exactMatch UMLS:C1539454, + UMLS:C1846057, + HGNC:18786, + HGNC_symbol:FAM50A ; biolink:category biolink:Gene . OMIM:300456 a owl:Class ; @@ -99767,14 +102143,15 @@ OMIM:300456 a owl:Class ; IAO:0000142 PMID:11846420, PMID:12185076, PMID:22387997 ; - oboInOwl:hasDbXref UMLS:C1425728, - UMLS:C3550813 ; oboInOwl:hasExactSynonym "CCNB3", "ccnb3/bcor fusion gene", "cyclin b3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85417 ; - skos:exactMatch HGNC_symbol:CCNB3 ; + skos:exactMatch UMLS:C1425728, + UMLS:C3550813, + HGNC:18709, + HGNC_symbol:CCNB3 ; biolink:category biolink:Gene . OMIM:300457 a owl:Class ; @@ -99794,15 +102171,16 @@ OMIM:300457 a owl:Class ; PMID:458526 ; RO:0002525 CHR:9606chrXp22.2-p22.13 ; RO:0003303 OMIM:302350 ; - oboInOwl:hasDbXref UMLS:C0796085, - UMLS:C1417725, - UMLS:C4049004 ; oboInOwl:hasExactSynonym "NHS", "nhs actin remodeling regulator", "nhs gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4810 ; - skos:exactMatch HGNC_symbol:NHS ; + skos:exactMatch UMLS:C0796085, + UMLS:C1417725, + UMLS:C4049004, + HGNC:7820, + HGNC_symbol:NHS ; biolink:category biolink:Gene . OMIM:300458 a owl:Class ; @@ -99813,7 +102191,6 @@ OMIM:300459 a owl:Class ; rdfs:label "TNMD" ; IAO:0000142 PMID:11162640, PMID:11162673 ; - oboInOwl:hasDbXref UMLS:C1540034 ; oboInOwl:hasExactSynonym "TNMD", "chm1-like", "chondromodulin i-like", @@ -99821,7 +102198,9 @@ OMIM:300459 a owl:Class ; "tenomodulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64102 ; - skos:exactMatch HGNC_symbol:TNMD ; + skos:exactMatch UMLS:C1540034, + HGNC:17757, + HGNC_symbol:TNMD ; biolink:category biolink:Gene . OMIM:300460 a owl:Class ; @@ -99836,14 +102215,15 @@ OMIM:300460 a owl:Class ; PMID:5116697 ; RO:0002525 CHR:9606chrXq22.1 ; RO:0003303 OMIM:300088 ; - oboInOwl:hasDbXref UMLS:C1422530, - UMLS:C1848137 ; oboInOwl:hasExactSynonym "PCDH19", "kiaa1313", "protocadherin 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57526 ; - skos:exactMatch HGNC_symbol:PCDH19 ; + skos:exactMatch UMLS:C1422530, + UMLS:C1848137, + HGNC:14270, + HGNC_symbol:PCDH19 ; biolink:category biolink:Gene . OMIM:300461 a owl:Class ; @@ -99900,25 +102280,27 @@ OMIM:300461 a owl:Class ; PMID:9831349 ; RO:0002525 CHR:9606chrXp11.4 ; RO:0003303 OMIM:311250 ; - oboInOwl:hasDbXref UMLS:C1418193 ; oboInOwl:hasExactSynonym "OTC", "ornithine carbamoyltransferase", "ornithine transcarbamylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5009 ; - skos:exactMatch HGNC_symbol:OTC ; + skos:exactMatch UMLS:C1418193, + HGNC:8512, + HGNC_symbol:OTC ; biolink:category biolink:Gene . OMIM:300462 a owl:Class ; rdfs:label "AKAP14" ; IAO:0000142 PMID:12475942 ; - oboInOwl:hasDbXref UMLS:C1540196 ; oboInOwl:hasExactSynonym "AKAP14", "a-kinase anchor protein 14", "a-kinase anchor protein, 28-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158798 ; - skos:exactMatch HGNC_symbol:AKAP14 ; + skos:exactMatch UMLS:C1540196, + HGNC:24061, + HGNC_symbol:AKAP14 ; biolink:category biolink:Gene . OMIM:300463 a owl:Class ; @@ -99951,13 +102333,14 @@ OMIM:300463 a owl:Class ; PMID:9875212 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:309500 ; - oboInOwl:hasDbXref UMLS:C1418859 ; oboInOwl:hasExactSynonym "PQBP1", "nuclear protein containing a ww domain, 38-kd", "polyglutamine-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10084 ; - skos:exactMatch HGNC_symbol:PQBP1 ; + skos:exactMatch UMLS:C1418859, + HGNC:9330, + HGNC_symbol:PQBP1 ; biolink:category biolink:Gene . OMIM:300465 a owl:Class ; @@ -99968,24 +102351,26 @@ OMIM:300466 a owl:Class ; rdfs:label "MAGEB5" ; IAO:0000142 PMID:10861452, PMID:15772651 ; - oboInOwl:hasDbXref UMLS:C1428263 ; oboInOwl:hasExactSynonym "MAGEB5", "melanoma antigen, family b, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347541 ; - skos:exactMatch HGNC_symbol:MAGEB5 ; + skos:exactMatch UMLS:C1428263, + HGNC:23795, + HGNC_symbol:MAGEB5 ; biolink:category biolink:Gene . OMIM:300467 a owl:Class ; rdfs:label "MAGEB6" ; IAO:0000142 PMID:10861452, PMID:15772651 ; - oboInOwl:hasDbXref UMLS:C1428264 ; oboInOwl:hasExactSynonym "MAGEB6", "melanoma antigen, family b, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158809 ; - skos:exactMatch HGNC_symbol:MAGEB6 ; + skos:exactMatch UMLS:C1428264, + HGNC:23796, + HGNC_symbol:MAGEB6 ; biolink:category biolink:Gene . OMIM:300468 a owl:Class ; @@ -99995,7 +102380,6 @@ OMIM:300468 a owl:Class ; PMID:12097419, PMID:12920247, PMID:15772651 ; - oboInOwl:hasDbXref UMLS:C1422072 ; oboInOwl:hasExactSynonym "MAGEC2", "cancer-testis antigen 10", "hca587", @@ -100003,19 +102387,22 @@ OMIM:300468 a owl:Class ; "melanoma antigen, family e, 1, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51438 ; - skos:exactMatch HGNC_symbol:MAGEC2 ; + skos:exactMatch UMLS:C1422072, + HGNC:13574, + HGNC_symbol:MAGEC2 ; biolink:category biolink:Gene . OMIM:300469 a owl:Class ; rdfs:label "MAGEC3" ; IAO:0000142 PMID:10861452, PMID:15772651 ; - oboInOwl:hasDbXref UMLS:C1428266 ; oboInOwl:hasExactSynonym "MAGEC3", "melanoma antigen, family c, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139081 ; - skos:exactMatch HGNC_symbol:MAGEC3 ; + skos:exactMatch UMLS:C1428266, + HGNC:23798, + HGNC_symbol:MAGEC3 ; biolink:category biolink:Gene . OMIM:300470 a owl:Class ; @@ -100027,13 +102414,14 @@ OMIM:300470 a owl:Class ; PMID:9630034 ; RO:0002525 CHR:9606chrXp11.21 ; RO:0003303 OMIM:300971 ; - oboInOwl:hasDbXref UMLS:C1424211 ; oboInOwl:hasExactSynonym "MAGED2", "maged", "melanoma antigen, family d, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10916 ; - skos:exactMatch HGNC_symbol:MAGED2 ; + skos:exactMatch UMLS:C1424211, + HGNC:16353, + HGNC_symbol:MAGED2 ; biolink:category biolink:Gene . OMIM:300473 a owl:Class ; @@ -100094,13 +102482,14 @@ OMIM:300473 a owl:Class ; PMID:9843206 ; RO:0002525 CHR:9606chrXp21.2 ; RO:0003303 OMIM:300200 ; - oboInOwl:hasDbXref UMLS:C1417820 ; oboInOwl:hasExactSynonym "NR0B1", "dss-ahc critical region on the 10 chromosome 1, gene 1", "nuclear receptor subfamily 0, group b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:190 ; - skos:exactMatch HGNC_symbol:NR0B1 ; + skos:exactMatch UMLS:C1417820, + HGNC:7960, + HGNC_symbol:NR0B1 ; biolink:category biolink:Gene . OMIM:300474 a owl:Class ; @@ -100123,13 +102512,14 @@ OMIM:300474 a owl:Class ; PMID:9719371 ; RO:0002525 CHR:9606chrXp21.2 ; RO:0003303 OMIM:307030 ; - oboInOwl:hasDbXref UMLS:C1415082 ; oboInOwl:hasExactSynonym "GK", "atp:glycerol phosphotransferase", "glycerol kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2710 ; - skos:exactMatch HGNC_symbol:GK ; + skos:exactMatch UMLS:C1415082, + HGNC:4289, + HGNC_symbol:GK ; biolink:category biolink:Gene . OMIM:300476 a owl:Class ; @@ -100141,48 +102531,50 @@ OMIM:300476 a owl:Class ; PMID:24124559, PMID:8123616, PMID:8288262 ; - oboInOwl:hasDbXref UMLS:C1845407 ; oboInOwl:hasExactSynonym "CORDX3", "cone-rod dystrophy, x-linked, 3" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1845407 ; biolink:category biolink:Disease . OMIM:300477 a owl:Class ; rdfs:label "FAM9A" ; IAO:0000142 PMID:12213195 ; - oboInOwl:hasDbXref UMLS:C1425499 ; oboInOwl:hasExactSynonym "FAM9A", "family with sequence similarity 9, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171482 ; - skos:exactMatch HGNC_symbol:FAM9A ; + skos:exactMatch UMLS:C1425499, + HGNC:18403, + HGNC_symbol:FAM9A ; biolink:category biolink:Gene . OMIM:300478 a owl:Class ; rdfs:label "FAM9B" ; IAO:0000142 PMID:12213195 ; - oboInOwl:hasDbXref UMLS:C1425500 ; oboInOwl:hasExactSynonym "FAM9B", "family with sequence similarity 9, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171483 ; - skos:exactMatch HGNC_symbol:FAM9B ; + skos:exactMatch UMLS:C1425500, + HGNC:18404, + HGNC_symbol:FAM9B ; biolink:category biolink:Gene . OMIM:300479 a owl:Class ; rdfs:label "FAM9C" ; IAO:0000142 PMID:12213195 ; - oboInOwl:hasDbXref UMLS:C1425501 ; oboInOwl:hasExactSynonym "FAM9C", "family with sequence similarity 9, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171484 ; - skos:exactMatch HGNC_symbol:FAM9C ; + skos:exactMatch UMLS:C1425501, + HGNC:18405, + HGNC_symbol:FAM9C ; biolink:category biolink:Gene . OMIM:300480 a owl:Class ; rdfs:label "TAB3" ; - oboInOwl:hasDbXref UMLS:C1825944 ; oboInOwl:hasExactSynonym "TAB3", "mitogen-activated protein kinase kinase kinase 7-interacting protein 3", "nf-kappa-b-activating protein 1", @@ -100191,7 +102583,9 @@ OMIM:300480 a owl:Class ; "tgf-beta-activated kinase 1/map3k7-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257397 ; - skos:exactMatch HGNC_symbol:TAB3 ; + skos:exactMatch UMLS:C1825944, + HGNC:30681, + HGNC_symbol:TAB3 ; biolink:category biolink:Gene . OMIM:300481 a owl:Class ; @@ -100238,10 +102632,6 @@ OMIM:300481 a owl:Class ; PMID:9856476 ; RO:0002525 CHR:9606chrXp21.1-p11.4 ; RO:0003303 OMIM:300645 ; - oboInOwl:hasDbXref UMLS:C1413844, - UMLS:C1844376, - UMLS:C1970859, - UMLS:C4016486 ; oboInOwl:hasExactSynonym "CYBB", "cytochrome b(-245), beta subunit", "cytochrome b(558), beta subunit", @@ -100250,19 +102640,25 @@ OMIM:300481 a owl:Class ; "p91-phox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1536 ; - skos:exactMatch HGNC_symbol:CYBB ; + skos:exactMatch UMLS:C1413844, + UMLS:C1844376, + UMLS:C1970859, + UMLS:C4016486, + HGNC:2578, + HGNC_symbol:CYBB ; biolink:category biolink:Gene . OMIM:300482 a owl:Class ; rdfs:label "GAB3" ; IAO:0000142 PMID:11739737, PMID:12640125 ; - oboInOwl:hasDbXref UMLS:C1424989 ; oboInOwl:hasExactSynonym "GAB3", "grb2-associated binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139716 ; - skos:exactMatch HGNC_symbol:GAB3 ; + skos:exactMatch UMLS:C1424989, + HGNC:17515, + HGNC_symbol:GAB3 ; biolink:category biolink:Gene . OMIM:300483 a owl:Class ; @@ -100275,9 +102671,6 @@ OMIM:300484 a owl:Class ; PMID:3229001, PMID:8281288 ; RO:0002525 CHR:9606chrChr.X ; - oboInOwl:hasDbXref UMLS:C0152096, - UMLS:C0796101, - ORPHA:2755 ; oboInOwl:hasExactSynonym "OFD8", "edwards syndrome", "ofds 8", @@ -100285,6 +102678,9 @@ OMIM:300484 a owl:Class ; "oral-facial-digital syndrome, iia 8", "orofaciodigital syndrome 8" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C0152096, + UMLS:C0796101, + ORPHA:2755 ; biolink:category biolink:Disease . OMIM:300485 a owl:Class ; @@ -100303,27 +102699,29 @@ OMIM:300485 a owl:Class ; PMID:23815237 ; RO:0002525 CHR:9606chrXp11.4 ; RO:0003303 OMIM:300166 ; - oboInOwl:hasDbXref UMLS:C1427193, - UMLS:C3550814 ; oboInOwl:hasExactSynonym "BCOR", "bcl6 corepressor", "bcor/ccnb3 fusion gene", "kiaa1575" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54880 ; - skos:exactMatch HGNC_symbol:BCOR ; + skos:exactMatch UMLS:C1427193, + UMLS:C3550814, + HGNC:20893, + HGNC_symbol:BCOR ; biolink:category biolink:Gene . OMIM:300487 a owl:Class ; rdfs:label "ACTRT1" ; IAO:0000142 PMID:12243744 ; - oboInOwl:hasDbXref UMLS:C1826404 ; oboInOwl:hasExactSynonym "ACTRT1", "actin-related protein t1", "arpt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139741 ; - skos:exactMatch HGNC_symbol:ACTRT1 ; + skos:exactMatch UMLS:C1826404, + HGNC:24027, + HGNC_symbol:ACTRT1 ; biolink:category biolink:Gene . OMIM:300490 a owl:Class ; @@ -100370,77 +102768,81 @@ OMIM:300490 a owl:Class ; PMID:9774102 ; RO:0002525 CHR:9606chrXq25 ; RO:0003303 OMIM:308240 ; - oboInOwl:hasDbXref UMLS:C1420017 ; oboInOwl:hasExactSynonym "SH2D1A", "sh2 domain protein 1a", "signaling lymphocyte activation molecule-associated protein", "slam-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4068 ; - skos:exactMatch HGNC_symbol:SH2D1A ; + skos:exactMatch UMLS:C1420017, + HGNC:10820, + HGNC_symbol:SH2D1A ; biolink:category biolink:Gene . OMIM:300491 a owl:Class ; rdfs:label "epilepsy, x-linked, with variable learning disabilities and behavior disorders" ; IAO:0000142 PMID:14985377, PMID:21441247 ; - oboInOwl:hasDbXref UMLS:C1845343 ; oboInOwl:hasExactSynonym "EPILX", "epilepsy, x-linked, with variable learning disabilities and behavior disorders" ; + skos:exactMatch UMLS:C1845343 ; biolink:category biolink:Disease . OMIM:300492 a owl:Class ; rdfs:label "FAM3A" ; IAO:0000142 PMID:12160727 ; - oboInOwl:hasDbXref UMLS:C1422181 ; oboInOwl:hasExactSynonym "FAM3A", "family with sequence similarity 3, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60343 ; - skos:exactMatch HGNC_symbol:FAM3A ; + skos:exactMatch UMLS:C1422181, + HGNC:13749, + HGNC_symbol:FAM3A ; biolink:category biolink:Gene . OMIM:300493 a owl:Class ; rdfs:label "SPANXA2" ; IAO:0000142 PMID:12758128, PMID:14973187 ; - oboInOwl:hasDbXref UMLS:C1422566 ; oboInOwl:hasExactSynonym "SPANXA2", "sperm protein associated with the nucleus, 10 chromosome, family member a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728712 ; - skos:exactMatch HGNC_symbol:SPANXA2 ; + skos:exactMatch UMLS:C1422566, + HGNC:14328, + HGNC_symbol:SPANXA2 ; biolink:category biolink:Gene . OMIM:300494 a owl:Class ; rdfs:label "asperger syndrome, x-linked, susceptibility to, 1" ; IAO:0000142 PMID:11708390, PMID:12669065 ; - oboInOwl:hasDbXref UMLS:C1845341 ; oboInOwl:hasExactSynonym "ASPGX1", "asperger syndrome, x-linked, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:608638 ; + skos:exactMatch UMLS:C1845341 ; biolink:category biolink:Disease . OMIM:300497 a owl:Class ; rdfs:label "asperger syndrome, x-linked, susceptibility to, 2" ; IAO:0000142 PMID:11708390, PMID:12669065 ; - oboInOwl:hasDbXref UMLS:C1845334 ; oboInOwl:hasExactSynonym "ASPGX2", "asperger syndrome, x-linked, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:608638 ; + skos:exactMatch UMLS:C1845334 ; biolink:category biolink:Disease . OMIM:300498 a owl:Class ; - rdfs:label "mental retardation, X-linked 45" ; + rdfs:label "intellectual developmental disorder, X-linked 45" ; IAO:0000142 PMID:10398246, PMID:15121780 ; RO:0002525 CHR:9606chrXp11.3-p11.21 ; - oboInOwl:hasDbXref UMLS:C1845333 ; - oboInOwl:hasExactSynonym "MRX45", + oboInOwl:hasExactSynonym "XLID45", + "intellectual developmental disorder, X-linked 45", "mental retardation, X-linked 45" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845333 ; biolink:category biolink:Disease . OMIM:300499 a owl:Class ; @@ -100453,7 +102855,6 @@ OMIM:300499 a owl:Class ; PMID:8288232 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:309549 ; - oboInOwl:hasDbXref UMLS:C1421907 ; oboInOwl:hasExactSynonym "FTSJ1", "ftsj RNA 2-prime-o-methyltransferase 1", "ftsj, e. coli, homolog of, 1", @@ -100461,7 +102862,9 @@ OMIM:300499 a owl:Class ; "spb1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24140 ; - skos:exactMatch HGNC_symbol:FTSJ1 ; + skos:exactMatch UMLS:C1421907, + HGNC:13254, + HGNC_symbol:FTSJ1 ; biolink:category biolink:Gene . OMIM:300501 a owl:Class ; @@ -100521,7 +102924,6 @@ OMIM:300502 a owl:Class ; PMID:9686362 ; RO:0002525 CHR:9606chrXp22.12 ; RO:0003303 OMIM:312170 ; - oboInOwl:hasDbXref UMLS:C1418437 ; oboInOwl:hasExactSynonym "PDHA1", "pdha", "pdhce1a", @@ -100529,7 +102931,9 @@ OMIM:300502 a owl:Class ; "pyruvate dehydrogenase, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5160 ; - skos:exactMatch HGNC_symbol:PDHA1 ; + skos:exactMatch UMLS:C1418437, + HGNC:8806, + HGNC_symbol:PDHA1 ; biolink:category biolink:Gene . OMIM:300503 a owl:Class ; @@ -100543,39 +102947,42 @@ OMIM:300504 a owl:Class ; OMIM:300507 a owl:Class ; rdfs:label "H2BFWT" ; IAO:0000142 PMID:15475252 ; - oboInOwl:hasDbXref UMLS:C1539629 ; oboInOwl:hasExactSynonym "H2BFWT", "h2b histone family, member w, testis-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158983 ; - skos:exactMatch HGNC_symbol:H2BW1 ; + skos:exactMatch UMLS:C1539629, + HGNC:27252, + HGNC_symbol:H2BW1 ; biolink:category biolink:Gene . OMIM:300508 a owl:Class ; rdfs:label "UTP14A" ; IAO:0000142 PMID:15289605, PMID:9610721 ; - oboInOwl:hasDbXref UMLS:C1540168 ; oboInOwl:hasExactSynonym "UTP14A", "ny-co-16", "utp14, s. cerevisiae, homolog of, a", "utp14a small subunit processome component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10813 ; - skos:exactMatch HGNC_symbol:UTP14A ; + skos:exactMatch UMLS:C1540168, + HGNC:10665, + HGNC_symbol:UTP14A ; biolink:category biolink:Gene . OMIM:300513 a owl:Class ; rdfs:label "GPR119" ; IAO:0000142 PMID:12044878, PMID:14623098 ; - oboInOwl:hasDbXref UMLS:C1425983 ; oboInOwl:hasExactSynonym "GPR119", "g protein-coupled receptor 119", "g protein-coupled receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139760 ; - skos:exactMatch HGNC_symbol:GPR119 ; + skos:exactMatch UMLS:C1425983, + HGNC:19060, + HGNC_symbol:GPR119 ; biolink:category biolink:Gene . OMIM:300515 a owl:Class ; @@ -100589,7 +102996,6 @@ OMIM:300515 a owl:Class ; PMID:8368240 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:300514 ; - oboInOwl:hasDbXref UMLS:C1414528 ; oboInOwl:hasExactSynonym "FANCB", "faap90", "fancb gene", @@ -100597,13 +103003,14 @@ OMIM:300515 a owl:Class ; "flj34064" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2187 ; - skos:exactMatch HGNC_symbol:FANCB ; + skos:exactMatch UMLS:C1414528, + HGNC:3583, + HGNC_symbol:FANCB ; biolink:category biolink:Gene . OMIM:300517 a owl:Class ; rdfs:label "SPIN2B" ; IAO:0000142 PMID:12145692 ; - oboInOwl:hasDbXref UMLS:C1823109 ; oboInOwl:hasExactSynonym "SPIN2B", "spin2", "spin2, telomeric copy", @@ -100611,7 +103018,9 @@ OMIM:300517 a owl:Class ; "spindlin family, member 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:474343 ; - skos:exactMatch HGNC_symbol:SPIN2B ; + skos:exactMatch UMLS:C1823109, + HGNC:33147, + HGNC_symbol:SPIN2B ; biolink:category biolink:Gene . OMIM:300520 a owl:Class ; @@ -100622,12 +103031,13 @@ OMIM:300520 a owl:Class ; PMID:20727355 ; RO:0002525 CHR:9606chrXq22.3 ; RO:0003303 OMIM:301060 ; - oboInOwl:hasDbXref UMLS:C1413469 ; oboInOwl:hasExactSynonym "CLDN2", "claudin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9075 ; - skos:exactMatch HGNC_symbol:CLDN2 ; + skos:exactMatch UMLS:C1413469, + HGNC:2041, + HGNC_symbol:CLDN2 ; biolink:category biolink:Gene . OMIM:300521 a owl:Class ; @@ -100644,13 +103054,14 @@ OMIM:300521 a owl:Class ; PMID:9658142 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:300923 ; - oboInOwl:hasDbXref UMLS:C1421941 ; oboInOwl:hasExactSynonym "KIF4A", "kif4", "kinesin family member 4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24137 ; - skos:exactMatch HGNC_symbol:KIF4A ; + skos:exactMatch UMLS:C1421941, + HGNC:13339, + HGNC_symbol:KIF4A ; biolink:category biolink:Gene . OMIM:300522 a owl:Class ; @@ -100665,13 +103076,14 @@ OMIM:300522 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:309530 ; - oboInOwl:hasDbXref UMLS:C1537419 ; oboInOwl:hasExactSynonym "IQSEC2", "iq motif- and sec7 domain-containing protein 2", "kiaa0522" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23096 ; - skos:exactMatch HGNC_symbol:IQSEC2 ; + skos:exactMatch UMLS:C1537419, + HGNC:29059, + HGNC_symbol:IQSEC2 ; biolink:category biolink:Gene . OMIM:300524 a owl:Class ; @@ -100684,13 +103096,14 @@ OMIM:300524 a owl:Class ; PMID:27568816 ; RO:0002525 CHR:9606chrXq13.3 ; RO:0003303 OMIM:300912 ; - oboInOwl:hasDbXref UMLS:C1845260 ; oboInOwl:hasExactSynonym "NEXMIF", "kiaa2022", "neurite extension and migration factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340533 ; - skos:exactMatch HGNC_symbol:NEXMIF ; + skos:exactMatch UMLS:C1845260, + HGNC:29433, + HGNC_symbol:NEXMIF ; biolink:category biolink:Gene . OMIM:300525 a owl:Class ; @@ -100699,15 +103112,16 @@ OMIM:300525 a owl:Class ; PMID:15466006, PMID:19838194, PMID:30842656 ; - oboInOwl:hasDbXref UMLS:C1423554, - UMLS:C3275246 ; oboInOwl:hasExactSynonym "P2RY8", "p2ry8/crlf2 fusion gene", "p2y8", "pyrimidinergic receptor p2y, g protein-coupled, 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286530 ; - skos:exactMatch HGNC_symbol:P2RY8 ; + skos:exactMatch UMLS:C1423554, + UMLS:C3275246, + HGNC:15524, + HGNC_symbol:P2RY8 ; biolink:category biolink:Gene . OMIM:300526 a owl:Class ; @@ -100718,20 +103132,20 @@ OMIM:300526 a owl:Class ; PMID:23435086 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300894 ; - oboInOwl:hasDbXref UMLS:C1538088 ; oboInOwl:hasExactSynonym "WDR45", "wd repeat-containing protein 45", "wd40 repeat protein interacting with phosphoinositides 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11152 ; - skos:exactMatch HGNC_symbol:WDR45 ; + skos:exactMatch UMLS:C1538088, + HGNC:28912, + HGNC_symbol:WDR45 ; biolink:category biolink:Gene . OMIM:300527 a owl:Class ; rdfs:label "NUDT10" ; IAO:0000142 PMID:12105228, PMID:12121577 ; - oboInOwl:hasDbXref UMLS:C1425016 ; oboInOwl:hasExactSynonym "NUDT10", "aps2", "diphosphoinositol polyphosphate phosphohydrolase 3, alpha", @@ -100741,14 +103155,15 @@ OMIM:300527 a owl:Class ; "nudix motif 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170685 ; - skos:exactMatch HGNC_symbol:NUDT10 ; + skos:exactMatch UMLS:C1425016, + HGNC:17621, + HGNC_symbol:NUDT10 ; biolink:category biolink:Gene . OMIM:300528 a owl:Class ; rdfs:label "NUDT11" ; IAO:0000142 PMID:12105228, PMID:12121577 ; - oboInOwl:hasDbXref UMLS:C1425238 ; oboInOwl:hasExactSynonym "NUDT11", "aps1", "diphosphoinositol polyphosphate phosphohydrolase 3, beta", @@ -100758,19 +103173,22 @@ OMIM:300528 a owl:Class ; "nudix motif 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55190 ; - skos:exactMatch HGNC_symbol:NUDT11 ; + skos:exactMatch UMLS:C1425238, + HGNC:18011, + HGNC_symbol:NUDT11 ; biolink:category biolink:Gene . OMIM:300529 a owl:Class ; rdfs:label "P2RY10" ; IAO:0000142 PMID:11004484 ; - oboInOwl:hasDbXref UMLS:C1426521 ; oboInOwl:hasExactSynonym "P2RY10", "p2y10", "purinergic receptor p2y, g protein-coupled, 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27334 ; - skos:exactMatch HGNC_symbol:P2RY10 ; + skos:exactMatch UMLS:C1426521, + HGNC:19906, + HGNC_symbol:P2RY10 ; biolink:category biolink:Gene . OMIM:300530 a owl:Class ; @@ -100780,14 +103198,15 @@ OMIM:300530 a owl:Class ; OMIM:300532 a owl:Class ; rdfs:label "VCX2" ; IAO:0000142 PMID:10607842 ; - oboInOwl:hasDbXref UMLS:C1540174 ; oboInOwl:hasExactSynonym "VCX2", "variably charged, 10 chromosome, 2", "variably charged, 10 chromosome, B", "variably charged, 10 chromosome, with 2 repeats" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51480 ; - skos:exactMatch HGNC_symbol:VCX2 ; + skos:exactMatch UMLS:C1540174, + HGNC:18158, + HGNC_symbol:VCX2 ; biolink:category biolink:Gene . OMIM:300533 a owl:Class ; @@ -100800,14 +103219,15 @@ OMIM:300533 a owl:Class ; PMID:17157254, PMID:18076704, PMID:2602357 ; - oboInOwl:hasDbXref UMLS:C1540175 ; oboInOwl:hasExactSynonym "VCX3A", "variably charged, 10 chromosome, 3a", "variably charged, 10 chromosome, a", "variably charged, 10 chromosome, with 8 repeats" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51481 ; - skos:exactMatch HGNC_symbol:VCX3A ; + skos:exactMatch UMLS:C1540175, + HGNC:18159, + HGNC_symbol:VCX3A ; biolink:category biolink:Gene . OMIM:300535 a owl:Class ; @@ -100836,16 +103256,17 @@ OMIM:300535 a owl:Class ; PMID:9682219 ; RO:0002525 CHR:9606chrXq26.1 ; RO:0003303 OMIM:309000 ; - oboInOwl:hasDbXref UMLS:C0028860, - UMLS:C1417931, - UMLS:C1845167 ; oboInOwl:hasExactSynonym "OCRL", "ocrl gene", "ocrl inositol polyphosphate-5-phosphatase", "ocrl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4952 ; - skos:exactMatch HGNC_symbol:OCRL ; + skos:exactMatch UMLS:C0028860, + UMLS:C1417931, + UMLS:C1845167, + HGNC:8108, + HGNC_symbol:OCRL ; biolink:category biolink:Gene . OMIM:300537 a owl:Class ; @@ -100890,14 +103311,15 @@ OMIM:300538 a owl:Class ; PMID:9711877 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300539 ; - oboInOwl:hasDbXref UMLS:C1332124 ; oboInOwl:hasExactSynonym "AVPR2", "antidiuretic hormone receptor", "arginine vasopressin receptor 2", "vasopressin v2 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:554 ; - skos:exactMatch HGNC_symbol:AVPR2 ; + skos:exactMatch UMLS:C1332124, + HGNC:897, + HGNC_symbol:AVPR2 ; biolink:category biolink:Gene . OMIM:300540 a owl:Class ; @@ -100906,58 +103328,63 @@ OMIM:300540 a owl:Class ; PMID:18443220, PMID:19369198, PMID:19427217 ; - oboInOwl:hasDbXref UMLS:C1823588 ; oboInOwl:hasExactSynonym "HAUS7", "haus augmin-like complex, subunit 7", "uch37-interacting protein 1", "uchl5-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55559 ; - skos:exactMatch HGNC_symbol:HAUS7 ; + skos:exactMatch UMLS:C1823588, + HGNC:32979, + HGNC_symbol:HAUS7 ; biolink:category biolink:Gene . OMIM:300541 a owl:Class ; rdfs:label "SSX6" ; IAO:0000142 PMID:12216073 ; - oboInOwl:hasDbXref UMLS:C1426302 ; oboInOwl:hasExactSynonym "SSX6", "sarcoma, synovial, 10 breakpoint 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:280657 ; - skos:exactMatch HGNC_symbol:SSX6P ; + skos:exactMatch UMLS:C1426302, + HGNC:19652, + HGNC_symbol:SSX6P ; biolink:category biolink:Gene . OMIM:300542 a owl:Class ; rdfs:label "SSX7" ; IAO:0000142 PMID:12216073 ; - oboInOwl:hasDbXref UMLS:C1426303 ; oboInOwl:hasExactSynonym "SSX7", "sarcoma, synovial, 10 breakpoint 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:280658 ; - skos:exactMatch HGNC_symbol:SSX7 ; + skos:exactMatch UMLS:C1426303, + HGNC:19653, + HGNC_symbol:SSX7 ; biolink:category biolink:Gene . OMIM:300543 a owl:Class ; rdfs:label "SSX8" ; IAO:0000142 PMID:12216073 ; - oboInOwl:hasDbXref UMLS:C1426304 ; oboInOwl:hasExactSynonym "SSX8", "sarcoma, synovial, 10 breakpoint 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:280659 ; - skos:exactMatch HGNC_symbol:SSX8P ; + skos:exactMatch UMLS:C1426304, + HGNC:19654, + HGNC_symbol:SSX8P ; biolink:category biolink:Gene . OMIM:300544 a owl:Class ; rdfs:label "SSX9" ; IAO:0000142 PMID:12216073 ; - oboInOwl:hasDbXref UMLS:C1426305 ; oboInOwl:hasExactSynonym "SSX9", "sarcoma, synovial, 10 breakpoint 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:280660 ; - skos:exactMatch HGNC_symbol:SSX9P ; + skos:exactMatch UMLS:C1426305, + HGNC:19655, + HGNC_symbol:SSX9P ; biolink:category biolink:Gene . OMIM:300545 a owl:Class ; @@ -100967,12 +103394,13 @@ OMIM:300545 a owl:Class ; PMID:30471091 ; RO:0002525 CHR:9606chrXq26.2 ; RO:0003303 OMIM:301025 ; - oboInOwl:hasDbXref UMLS:C1426035 ; oboInOwl:hasExactSynonym "HS6ST2", "heparan sulfate 6-o-sulfotransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90161 ; - skos:exactMatch HGNC_symbol:HS6ST2 ; + skos:exactMatch UMLS:C1426035, + HGNC:19133, + HGNC_symbol:HS6ST2 ; biolink:category biolink:Gene . OMIM:300546 a owl:Class ; @@ -100999,12 +103427,13 @@ OMIM:300546 a owl:Class ; PMID:8969170 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:305400 ; - oboInOwl:hasDbXref UMLS:C1414594 ; oboInOwl:hasExactSynonym "FGD1", "fyve, rhogef, and ph domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2245 ; - skos:exactMatch HGNC_symbol:FGD1 ; + skos:exactMatch UMLS:C1414594, + HGNC:3663, + HGNC_symbol:FGD1 ; biolink:category biolink:Gene . OMIM:300547 a owl:Class ; @@ -101013,37 +103442,40 @@ OMIM:300547 a owl:Class ; PMID:11741893, PMID:12810671, PMID:32271880 ; - oboInOwl:hasDbXref UMLS:C1845191 ; oboInOwl:hasExactSynonym "STK26", "mammalian sterile 20-like 4", "mst3- and sok1-related kinase", "serine/threonine kinase 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51765 ; - skos:exactMatch HGNC_symbol:STK26 ; + skos:exactMatch UMLS:C1845191, + HGNC:18174, + HGNC_symbol:STK26 ; biolink:category biolink:Gene . OMIM:300548 a owl:Class ; rdfs:label "MAGEH1" ; IAO:0000142 PMID:11454705, PMID:12414813 ; - oboInOwl:hasDbXref UMLS:C1537643 ; oboInOwl:hasExactSynonym "MAGEH1", "mageh", "melanoma antigen, family h, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28986 ; - skos:exactMatch HGNC_symbol:MAGEH1 ; + skos:exactMatch UMLS:C1537643, + HGNC:24092, + HGNC_symbol:MAGEH1 ; biolink:category biolink:Gene . OMIM:300549 a owl:Class ; rdfs:label "MAGEA2B" ; - oboInOwl:hasDbXref UMLS:C1537635 ; oboInOwl:hasExactSynonym "MAGEA2B", "melanoma antigen, family a, 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266740 ; - skos:exactMatch HGNC_symbol:MAGEA2B ; + skos:exactMatch UMLS:C1537635, + HGNC:19340, + HGNC_symbol:MAGEA2B ; biolink:category biolink:Gene . OMIM:300551 a owl:Class ; @@ -101072,7 +103504,6 @@ OMIM:300552 a owl:Class ; PMID:9467009 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:300000 ; - oboInOwl:hasDbXref UMLS:C1417167 ; oboInOwl:hasExactSynonym "MID1", "finger on 10 and y, mouse, homolog of", "midin", @@ -101080,7 +103511,9 @@ OMIM:300552 a owl:Class ; "midline 1 ring finger gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4281 ; - skos:exactMatch HGNC_symbol:MID1 ; + skos:exactMatch UMLS:C1417167, + HGNC:7095, + HGNC_symbol:MID1 ; biolink:category biolink:Gene . OMIM:300553 a owl:Class ; @@ -101092,12 +103525,13 @@ OMIM:300553 a owl:Class ; PMID:7943039 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:300659 ; - oboInOwl:hasDbXref UMLS:C1538965 ; oboInOwl:hasExactSynonym "BRWD3", "bromodomain- and wd repeat-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254065 ; - skos:exactMatch HGNC_symbol:BRWD3 ; + skos:exactMatch UMLS:C1538965, + HGNC:17342, + HGNC_symbol:BRWD3 ; biolink:category biolink:Gene . OMIM:300554 a owl:Class ; @@ -101107,11 +103541,11 @@ OMIM:300554 a owl:Class ; PMID:8559248, PMID:9187673, PMID:9452994 ; - oboInOwl:hasDbXref UMLS:C1845168, - ORPHA:1652, - ORPHA:93622 ; oboInOwl:hasExactSynonym "hypophosphatemic rickets, X-linked recessive" ; rdfs:subClassOf OMIMPS:193100 ; + skos:exactMatch UMLS:C1845168, + ORPHA:1652, + ORPHA:93622 ; biolink:category biolink:Disease . OMIM:300555 a owl:Class ; @@ -101119,12 +103553,12 @@ OMIM:300555 a owl:Class ; IAO:0000142 PMID:15627218, PMID:27625794, PMID:27625797 ; - oboInOwl:hasDbXref UMLS:C1845167, - ORPHA:1652, - ORPHA:93623 ; oboInOwl:hasExactSynonym "DENT2", "dent disease 2" ; rdfs:subClassOf OMIMPS:300009 ; + skos:exactMatch UMLS:C1845167, + ORPHA:1652, + ORPHA:93623 ; biolink:category biolink:Disease . OMIM:300556 a owl:Class ; @@ -101143,10 +103577,6 @@ OMIM:300556 a owl:Class ; PMID:9556572 ; RO:0002525 CHR:9606chrXp11.4 ; RO:0003303 OMIM:300423 ; - oboInOwl:hasDbXref UMLS:C1425435, - UMLS:C1845543, - UMLS:C3806722, - UMLS:C5393313 ; oboInOwl:hasExactSynonym "ATP6AP2", "atp6m8-9", "atpase, h+ transporting, lysosomal, accessory protein 2", @@ -101154,7 +103584,12 @@ OMIM:300556 a owl:Class ; "renin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10159 ; - skos:exactMatch HGNC_symbol:ATP6AP2 ; + skos:exactMatch UMLS:C1425435, + UMLS:C1845543, + UMLS:C3806722, + UMLS:C5393313, + HGNC:18305, + HGNC_symbol:ATP6AP2 ; biolink:category biolink:Gene . OMIM:300560 a owl:Class ; @@ -101169,26 +103604,28 @@ OMIM:300560 a owl:Class ; PMID:20622854 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:300263 ; - oboInOwl:hasDbXref UMLS:C1538632 ; oboInOwl:hasExactSynonym "PHF8", "kiaa1111", "phd finger protein 8", "zinc finger protein 422" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23133 ; - skos:exactMatch HGNC_symbol:PHF8 ; + skos:exactMatch UMLS:C1538632, + HGNC:20672, + HGNC_symbol:PHF8 ; biolink:category biolink:Gene . OMIM:300562 a owl:Class ; rdfs:label "SLITRK4" ; IAO:0000142 PMID:14550773, PMID:14557068 ; - oboInOwl:hasDbXref UMLS:C1428106 ; oboInOwl:hasExactSynonym "SLITRK4", "slit- and ntrk-like family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139065 ; - skos:exactMatch HGNC_symbol:SLITRK4 ; + skos:exactMatch UMLS:C1428106, + HGNC:23502, + HGNC_symbol:SLITRK4 ; biolink:category biolink:Gene . OMIM:300563 a owl:Class ; @@ -101203,7 +103640,6 @@ OMIM:300564 a owl:Class ; PMID:15823505, PMID:21729780, PMID:23104009 ; - oboInOwl:hasDbXref UMLS:C1540100 ; oboInOwl:hasExactSynonym "TSPYL2", "cask-interacting nucleosome assembly protein", "cell division autoantigen 1", @@ -101211,7 +103647,9 @@ OMIM:300564 a owl:Class ; "tspy-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64061 ; - skos:exactMatch HGNC_symbol:TSPYL2 ; + skos:exactMatch UMLS:C1540100, + HGNC:24358, + HGNC_symbol:TSPYL2 ; biolink:category biolink:Gene . OMIM:300565 a owl:Class ; @@ -101222,26 +103660,28 @@ OMIM:300566 a owl:Class ; rdfs:label "LHFPL1" ; IAO:0000142 PMID:10329012, PMID:15620218 ; - oboInOwl:hasDbXref UMLS:C1416845 ; oboInOwl:hasExactSynonym "LHFPL1", "lhfp-like protein 1", "lhfpl tetraspan subfamily, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340596 ; - skos:exactMatch HGNC_symbol:LHFPL1 ; + skos:exactMatch UMLS:C1416845, + HGNC:6587, + HGNC_symbol:LHFPL1 ; biolink:category biolink:Gene . OMIM:300567 a owl:Class ; rdfs:label "PGAM4" ; IAO:0000142 PMID:11961099, PMID:9370262 ; - oboInOwl:hasDbXref UMLS:C1826570 ; oboInOwl:hasExactSynonym "PGAM4", "phosphoglycerate mutase family 3", "phosphoglycerate mutase family member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441531 ; - skos:exactMatch HGNC_symbol:PGAM4 ; + skos:exactMatch UMLS:C1826570, + HGNC:21731, + HGNC_symbol:PGAM4 ; biolink:category biolink:Gene . OMIM:300568 a owl:Class ; @@ -101254,14 +103694,15 @@ OMIM:300568 a owl:Class ; PMID:18708351, PMID:18790736, PMID:29950719 ; - oboInOwl:hasDbXref UMLS:C1537859 ; oboInOwl:hasExactSynonym "MIR221", "micro RNA 221", "mirn221", "mirna221" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407006 ; - skos:exactMatch HGNC_symbol:MIR221 ; + skos:exactMatch UMLS:C1537859, + HGNC:31601, + HGNC_symbol:MIR221 ; biolink:category biolink:Gene . OMIM:300569 a owl:Class ; @@ -101274,26 +103715,28 @@ OMIM:300569 a owl:Class ; PMID:19520829, PMID:26844700, PMID:29950719 ; - oboInOwl:hasDbXref UMLS:C1537860 ; oboInOwl:hasExactSynonym "MIR222", "micro RNA 222", "mirn222", "mirna222" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407007 ; - skos:exactMatch HGNC_symbol:MIR222 ; + skos:exactMatch UMLS:C1537860, + HGNC:31602, + HGNC_symbol:MIR222 ; biolink:category biolink:Gene . OMIM:300570 a owl:Class ; rdfs:label "YY2" ; IAO:0000142 PMID:15087442 ; - oboInOwl:hasDbXref UMLS:C1538139 ; oboInOwl:hasExactSynonym "YY2", "transcription factor yy2", "znf631" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:404281 ; - skos:exactMatch HGNC_symbol:YY2 ; + skos:exactMatch UMLS:C1538139, + HGNC:31684, + HGNC_symbol:YY2 ; biolink:category biolink:Gene . OMIM:300571 a owl:Class ; @@ -101306,37 +103749,40 @@ OMIM:300573 a owl:Class ; PMID:16385466, PMID:22126752, PMID:23871722 ; - oboInOwl:hasDbXref UMLS:C1823987 ; oboInOwl:hasExactSynonym "ZNF674", "zinc finger protein 674" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641339 ; - skos:exactMatch HGNC_symbol:ZNF674 ; + skos:exactMatch UMLS:C1823987, + HGNC:17625, + HGNC_symbol:ZNF674 ; biolink:category biolink:Gene . OMIM:300575 a owl:Class ; rdfs:label "RIPPLY1" ; IAO:0000142 PMID:16326386 ; - oboInOwl:hasDbXref UMLS:C1845143 ; oboInOwl:hasExactSynonym "RIPPLY1", "loc92129", "ripply transcriptional repressor 1", "ripply1, zebrafish, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92129 ; - skos:exactMatch HGNC_symbol:RIPPLY1 ; + skos:exactMatch UMLS:C1845143, + HGNC:25117, + HGNC_symbol:RIPPLY1 ; biolink:category biolink:Gene . OMIM:300576 a owl:Class ; rdfs:label "ZDHHC15" ; IAO:0000142 PMID:15915161, PMID:26290131 ; - oboInOwl:hasDbXref UMLS:C1426876 ; oboInOwl:hasExactSynonym "ZDHHC15", "zinc finger dhhc domain-containing protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158866 ; - skos:exactMatch HGNC_symbol:ZDHHC15 ; + skos:exactMatch UMLS:C1426876, + HGNC:20342, + HGNC_symbol:ZDHHC15 ; biolink:category biolink:Gene . OMIM:300577 a owl:Class ; @@ -101344,10 +103790,10 @@ OMIM:300577 a owl:Class ; IAO:0000142 PMID:15915161, PMID:26290131 ; RO:0002525 CHR:9606chrXq13.3 ; - oboInOwl:hasDbXref UMLS:C1845142 ; oboInOwl:hasExactSynonym "MRX91", "mental retardation, X-linked 91" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845142 ; biolink:category biolink:Disease . OMIM:300578 a owl:Class ; @@ -101357,9 +103803,9 @@ OMIM:300578 a owl:Class ; PMID:22126752, PMID:7977353 ; RO:0002525 CHR:9606chrXp11.3 ; - oboInOwl:hasDbXref UMLS:C1845136 ; oboInOwl:hasExactSynonym "chromosome xp11.3 deletion syndrome", "mental retardation, x-linked, with retinitis pigmentosa" ; + skos:exactMatch UMLS:C1845136 ; biolink:category biolink:Disease . OMIM:300579 a owl:Class ; @@ -101371,27 +103817,29 @@ OMIM:300579 a owl:Class ; PMID:26740508 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:300434 ; - oboInOwl:hasDbXref UMLS:C1822722 ; oboInOwl:hasExactSynonym "SHROOM4", "kiaa1202", "shroom family member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57477 ; - skos:exactMatch HGNC_symbol:SHROOM4 ; + skos:exactMatch UMLS:C1822722, + HGNC:29215, + HGNC_symbol:SHROOM4 ; biolink:category biolink:Gene . OMIM:300583 a owl:Class ; rdfs:label "VGLL1" ; IAO:0000142 PMID:10518497, PMID:12376544 ; - oboInOwl:hasDbXref UMLS:C1427223 ; oboInOwl:hasExactSynonym "VGLL1", "tondu", "vestigial-like 1", "vgl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51442 ; - skos:exactMatch HGNC_symbol:VGLL1 ; + skos:exactMatch UMLS:C1427223, + HGNC:20985, + HGNC_symbol:VGLL1 ; biolink:category biolink:Gene . OMIM:300584 a owl:Class ; @@ -101402,24 +103850,26 @@ OMIM:300585 a owl:Class ; rdfs:label "ZNF673" ; IAO:0000142 PMID:11944989, PMID:16385466 ; - oboInOwl:hasDbXref UMLS:C1538237 ; oboInOwl:hasExactSynonym "ZNF673", "flj20344", "zinc finger protein 673" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55634 ; - skos:exactMatch HGNC_symbol:KRBOX4 ; + skos:exactMatch UMLS:C1538237, + HGNC:26007, + HGNC_symbol:KRBOX4 ; biolink:category biolink:Gene . OMIM:300586 a owl:Class ; rdfs:label "ARSH" ; IAO:0000142 PMID:16174644 ; - oboInOwl:hasDbXref UMLS:C1825083 ; oboInOwl:hasExactSynonym "ARSH", "arylsulfatase h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347527 ; - skos:exactMatch HGNC_symbol:ARSH ; + skos:exactMatch UMLS:C1825083, + HGNC:32488, + HGNC_symbol:ARSH ; biolink:category biolink:Gene . OMIM:300587 a owl:Class ; @@ -101428,13 +103878,14 @@ OMIM:300587 a owl:Class ; PMID:12938157, PMID:25043021, PMID:9766643 ; - oboInOwl:hasDbXref UMLS:C1428048 ; oboInOwl:hasExactSynonym "MCTS1", "malignant t-cell amplified sequence 1", "mct1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28985 ; - skos:exactMatch HGNC_symbol:MCTS1 ; + skos:exactMatch UMLS:C1428048, + HGNC:23357, + HGNC_symbol:MCTS1 ; biolink:category biolink:Gene . OMIM:300588 a owl:Class ; @@ -101447,7 +103898,6 @@ OMIM:300588 a owl:Class ; PMID:22426000, PMID:24273166, PMID:27040985 ; - oboInOwl:hasDbXref UMLS:C1417938 ; oboInOwl:hasExactSynonym "TENM1", "odz, drosophila, homolog of, 1", "tenascin m1", @@ -101455,7 +103905,9 @@ OMIM:300588 a owl:Class ; "teneurin transmembrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10178 ; - skos:exactMatch HGNC_symbol:TENM1 ; + skos:exactMatch UMLS:C1417938, + HGNC:8117, + HGNC_symbol:TENM1 ; biolink:category biolink:Gene . OMIM:300590 a owl:Class ; @@ -101464,39 +103916,41 @@ OMIM:300590 a owl:Class ; PMID:20358602, PMID:20635401, PMID:22106055 ; - oboInOwl:hasDbXref UMLS:C1802395, - ORPHA:199 ; oboInOwl:hasExactSynonym "CDLS2", "cdls, X-linked", "cornelia lange lange syndrome 2", "cornelia lange lange syndrome, X-linked" ; rdfs:subClassOf OMIMPS:122470 ; + skos:exactMatch UMLS:C1802395, + ORPHA:199 ; biolink:category biolink:Disease . OMIM:300592 a owl:Class ; rdfs:label "CT47A11" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C1845114 ; oboInOwl:hasExactSynonym "CT47A11", "cancer/testis antigen family 47, member a11", "ct47.11", "loc255313" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255313 ; - skos:exactMatch HGNC_symbol:CT47A11 ; + skos:exactMatch UMLS:C1845114, + HGNC:27397, + HGNC_symbol:CT47A11 ; biolink:category biolink:Gene . OMIM:300593 a owl:Class ; rdfs:label "SPACA5" ; IAO:0000142 PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C1429186 ; oboInOwl:hasExactSynonym "SPACA5", "loc389852", "sperm acrosome-associated protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389852 ; - skos:exactMatch HGNC_symbol:SPACA5 ; + skos:exactMatch UMLS:C1429186, + HGNC:31353, + HGNC_symbol:SPACA5 ; biolink:category biolink:Gene . OMIM:300600 a owl:Class ; @@ -101519,10 +103973,10 @@ OMIM:300600 a owl:Class ; PMID:7398111, PMID:7612552, PMID:7907666 ; - oboInOwl:hasDbXref UMLS:C0268505 ; oboInOwl:hasExactSynonym "AIED", "aland island eye disease", "forsius-eriksson iia ocular albinism" ; + skos:exactMatch UMLS:C0268505 ; biolink:category biolink:Disease . OMIM:300602 a owl:Class ; @@ -101536,7 +103990,6 @@ OMIM:300603 a owl:Class ; PMID:9001815 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:300604 ; - oboInOwl:hasDbXref UMLS:C1538691 ; oboInOwl:hasExactSynonym "POF1B", "actin-binding protein, 34-kd", "flj22792", @@ -101544,7 +103997,9 @@ OMIM:300603 a owl:Class ; "pof1b gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79983 ; - skos:exactMatch HGNC_symbol:POF1B ; + skos:exactMatch UMLS:C1538691, + HGNC:13711, + HGNC_symbol:POF1B ; biolink:category biolink:Gene . OMIM:300606 a owl:Class ; @@ -101557,13 +104012,14 @@ OMIM:300608 a owl:Class ; PMID:15459172, PMID:16470613, PMID:24896186 ; - oboInOwl:hasDbXref UMLS:C1424566 ; oboInOwl:hasExactSynonym "DACH2", "dachshund family transcription factor 2", "dachshund, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117154 ; - skos:exactMatch HGNC_symbol:DACH2 ; + skos:exactMatch UMLS:C1424566, + HGNC:16814, + HGNC_symbol:DACH2 ; biolink:category biolink:Gene . OMIM:300611 a owl:Class ; @@ -101576,7 +104032,6 @@ OMIM:300611 a owl:Class ; PMID:20439703 ; RO:0002525 CHR:9606chrXq24 ; RO:0003303 OMIM:300622 ; - oboInOwl:hasDbXref UMLS:C1538974 ; oboInOwl:hasExactSynonym "C1GALT1C1", "c1galt1-specific chaperone 1", "c1galt2", @@ -101584,7 +104039,9 @@ OMIM:300611 a owl:Class ; "cosmc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29071 ; - skos:exactMatch HGNC_symbol:C1GALT1C1 ; + skos:exactMatch UMLS:C1538974, + HGNC:24338, + HGNC_symbol:C1GALT1C1 ; biolink:category biolink:Gene . OMIM:300612 a owl:Class ; @@ -101600,25 +104057,26 @@ OMIM:300614 a owl:Class ; PMID:18005182, PMID:223494, PMID:25986071 ; - oboInOwl:hasDbXref UMLS:C1845095, - ORPHA:139583 ; oboInOwl:hasExactSynonym "DFNX5", "auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy", "deafness, X-linked 5, with peripheral neuropathy" ; rdfs:subClassOf OMIMPS:304500, OMIMPS:609129 ; + skos:exactMatch UMLS:C1845095, + ORPHA:139583 ; biolink:category biolink:Disease . OMIM:300616 a owl:Class ; rdfs:label "LUZP4" ; IAO:0000142 PMID:12032826 ; - oboInOwl:hasDbXref UMLS:C1537622 ; oboInOwl:hasExactSynonym "LUZP4", "hom-tes-85", "leucine zipper protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51213 ; - skos:exactMatch HGNC_symbol:LUZP4 ; + skos:exactMatch UMLS:C1537622, + HGNC:24971, + HGNC_symbol:LUZP4 ; biolink:category biolink:Gene . OMIM:300617 a owl:Class ; @@ -101628,55 +104086,57 @@ OMIM:300617 a owl:Class ; PMID:21596366, PMID:23389450, PMID:31142841 ; - oboInOwl:hasDbXref UMLS:C1826632 ; oboInOwl:hasExactSynonym "BRCC3", "brca1/brca2-containing complex, subunit 3", "brcc36", "c6.1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79184 ; - skos:exactMatch HGNC_symbol:BRCC3 ; + skos:exactMatch UMLS:C1826632, + HGNC:24185, + HGNC_symbol:BRCC3 ; biolink:category biolink:Gene . OMIM:300618 a owl:Class ; rdfs:label "PHF16" ; IAO:0000142 PMID:14612400, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1427834 ; oboInOwl:hasExactSynonym "PHF16", "jade3", "kiaa0215", "phd finger protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9767 ; - skos:exactMatch HGNC_symbol:JADE3 ; + skos:exactMatch UMLS:C1427834, + HGNC:22982, + HGNC_symbol:JADE3 ; biolink:category biolink:Gene . OMIM:300619 a owl:Class ; rdfs:label "cataract, ataxia, short stature, and mental retardation" ; IAO:0000142 PMID:16832577 ; - oboInOwl:hasDbXref UMLS:C1845094 ; oboInOwl:hasExactSynonym "casm syndrome", "cataract, ataxia, short stature, and mental retardation" ; + skos:exactMatch UMLS:C1845094 ; biolink:category biolink:Disease . OMIM:300620 a owl:Class ; rdfs:label "VSIG1" ; IAO:0000142 PMID:16405301 ; - oboInOwl:hasDbXref UMLS:C1538069 ; oboInOwl:hasExactSynonym "VSIG1", "glycoprotein a34", "v-set and immunoglobulin domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340547 ; - skos:exactMatch HGNC_symbol:VSIG1 ; + skos:exactMatch UMLS:C1538069, + HGNC:28675, + HGNC_symbol:VSIG1 ; biolink:category biolink:Gene . OMIM:300621 a owl:Class ; rdfs:label "SPIN2A" ; IAO:0000142 PMID:12145692, PMID:9271673 ; - oboInOwl:hasDbXref UMLS:C1823108 ; oboInOwl:hasExactSynonym "SPIN2A", "dxf34", "spin2, centromeric copy", @@ -101684,7 +104144,9 @@ OMIM:300621 a owl:Class ; "spindlin family, member 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54466 ; - skos:exactMatch HGNC_symbol:SPIN2A ; + skos:exactMatch UMLS:C1823108, + HGNC:20694, + HGNC_symbol:SPIN2A ; biolink:category biolink:Gene . OMIM:300623 a owl:Class ; @@ -101726,45 +104188,48 @@ OMIM:300623 a owl:Class ; PMID:23492875, PMID:27797808, PMID:32789443 ; - oboInOwl:hasDbXref UMLS:C1839780 ; oboInOwl:hasExactSynonym "FXTAS", "fragile 10 tremor/ataxia syndrome" ; + skos:exactMatch UMLS:C1839780 ; biolink:category biolink:Disease . OMIM:300625 a owl:Class ; rdfs:label "CT83" ; IAO:0000142 PMID:16651449 ; - oboInOwl:hasDbXref UMLS:C1845087 ; oboInOwl:hasExactSynonym "CT83", "cancer/testis antigen 83", "chromosome 10 open reading frame 61", "kita-kyushu lung cancer antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203413 ; - skos:exactMatch HGNC_symbol:CT83 ; + skos:exactMatch UMLS:C1845087, + HGNC:33494, + HGNC_symbol:CT83 ; biolink:category biolink:Gene . OMIM:300626 a owl:Class ; rdfs:label "ASB11" ; IAO:0000142 PMID:16893969 ; - oboInOwl:hasDbXref UMLS:C1424807 ; oboInOwl:hasExactSynonym "ASB11", "ankyrin repeat- and socs box-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140456 ; - skos:exactMatch HGNC_symbol:ASB11 ; + skos:exactMatch UMLS:C1424807, + HGNC:17186, + HGNC_symbol:ASB11 ; biolink:category biolink:Gene . OMIM:300627 a owl:Class ; rdfs:label "ZNF449" ; IAO:0000142 PMID:16636917 ; - oboInOwl:hasDbXref UMLS:C1427265 ; oboInOwl:hasExactSynonym "ZNF449", "zinc finger protein 449", "zscan19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203523 ; - skos:exactMatch HGNC_symbol:ZNF449 ; + skos:exactMatch UMLS:C1427265, + HGNC:21039, + HGNC_symbol:ZNF449 ; biolink:category biolink:Gene . OMIM:300628 a owl:Class ; @@ -101781,12 +104246,13 @@ OMIM:300628 a owl:Class ; PMID:21746984 ; RO:0002525 CHR:9606chrXq26.2 ; RO:0003303 OMIM:310700 ; - oboInOwl:hasDbXref UMLS:C1825315 ; oboInOwl:hasExactSynonym "FRMD7", "ferm domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90167 ; - skos:exactMatch HGNC_symbol:FRMD7 ; + skos:exactMatch UMLS:C1825315, + HGNC:8079, + HGNC_symbol:FRMD7 ; biolink:category biolink:Gene . OMIM:300630 a owl:Class ; @@ -101798,7 +104264,6 @@ OMIM:300631 a owl:Class ; IAO:0000142 PMID:10432394, PMID:11278314, PMID:17167413 ; - oboInOwl:hasDbXref UMLS:C1539996 ; oboInOwl:hasExactSynonym "CLTRN", "collectrin", "collectrin, amino acid transport regulator", @@ -101806,14 +104271,15 @@ OMIM:300631 a owl:Class ; "transmembrane protein 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57393 ; - skos:exactMatch HGNC_symbol:CLTRN ; + skos:exactMatch UMLS:C1539996, + HGNC:29437, + HGNC_symbol:CLTRN ; biolink:category biolink:Gene . OMIM:300632 a owl:Class ; rdfs:label "PDZD11" ; IAO:0000142 PMID:12763866, PMID:16051599 ; - oboInOwl:hasDbXref UMLS:C1538621 ; oboInOwl:hasExactSynonym "PDZD11", "atpase-interacting pdz protein", "pdz domain-containing 11", @@ -101821,7 +104287,9 @@ OMIM:300632 a owl:Class ; "pmca-interacting single pdz protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51248 ; - skos:exactMatch HGNC_symbol:PDZD11 ; + skos:exactMatch UMLS:C1538621, + HGNC:28034, + HGNC_symbol:PDZD11 ; biolink:category biolink:Gene . OMIM:300633 a owl:Class ; @@ -101834,10 +104302,10 @@ OMIM:300633 a owl:Class ; PMID:8097257, PMID:8683794, PMID:9519944 ; - oboInOwl:hasDbXref UMLS:C2678098 ; oboInOwl:hasExactSynonym "HYSP1", "hypospadias 1, X-linked" ; rdfs:subClassOf OMIMPS:300633 ; + skos:exactMatch UMLS:C2678098 ; biolink:category biolink:Disease . OMIM:300634 a owl:Class ; @@ -101845,7 +104313,6 @@ OMIM:300634 a owl:Class ; IAO:0000142 PMID:10819331, PMID:15077175, PMID:15138636 ; - oboInOwl:hasDbXref UMLS:C1538616 ; oboInOwl:hasExactSynonym "PDZD4", "kiaa1444", "lu1", @@ -101854,7 +104321,9 @@ OMIM:300634 a owl:Class ; "pdzrn4l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57595 ; - skos:exactMatch HGNC_symbol:PDZD4 ; + skos:exactMatch UMLS:C1538616, + HGNC:21167, + HGNC_symbol:PDZD4 ; biolink:category biolink:Gene . OMIM:300637 a owl:Class ; @@ -101862,24 +104331,26 @@ OMIM:300637 a owl:Class ; IAO:0000142 PMID:10397259, PMID:18179644, PMID:9651357 ; - oboInOwl:hasDbXref UMLS:C1414937 ; oboInOwl:hasExactSynonym "GAGE12I", "g antigen 12i", "gage7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26748 ; - skos:exactMatch HGNC_symbol:GAGE12I ; + skos:exactMatch UMLS:C1414937, + HGNC:4105, + HGNC_symbol:GAGE12I ; biolink:category biolink:Gene . OMIM:300638 a owl:Class ; rdfs:label "GAGE8" ; IAO:0000142 PMID:10397259 ; - oboInOwl:hasDbXref UMLS:C1414938 ; oboInOwl:hasExactSynonym "GAGE8", "g antigen 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100101629 ; - skos:exactMatch HGNC_symbol:GAGE8 ; + skos:exactMatch UMLS:C1414938, + HGNC:4106, + HGNC_symbol:GAGE8 ; biolink:category biolink:Gene . OMIM:300639 a owl:Class ; @@ -101893,12 +104364,13 @@ OMIM:300640 a owl:Class ; OMIM:300641 a owl:Class ; rdfs:label "SLC25A43" ; IAO:0000142 PMID:16949250 ; - oboInOwl:hasDbXref UMLS:C1822752 ; oboInOwl:hasExactSynonym "SLC25A43", "solute carrier family 25, member 43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203427 ; - skos:exactMatch HGNC_symbol:SLC25A43 ; + skos:exactMatch UMLS:C1822752, + HGNC:30557, + HGNC_symbol:SLC25A43 ; biolink:category biolink:Gene . OMIM:300642 a owl:Class ; @@ -101915,13 +104387,14 @@ OMIM:300642 a owl:Class ; PMID:9864177 ; RO:0002525 CHR:9606chrXq22.1 ; RO:0003303 OMIM:300643 ; - oboInOwl:hasDbXref UMLS:C1539853 ; oboInOwl:hasExactSynonym "SRPX2", "sushi repeat protein upregulated 1n leukemia", "sushi repeat-containing protein, x-linked, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27286 ; - skos:exactMatch HGNC_symbol:SRPX2 ; + skos:exactMatch UMLS:C1539853, + HGNC:30668, + HGNC_symbol:SRPX2 ; biolink:category biolink:Gene . OMIM:300644 a owl:Class ; @@ -101975,13 +104448,14 @@ OMIM:300644 a owl:Class ; PMID:9554750 ; RO:0002525 CHR:9606chrXq22.1 ; RO:0003303 OMIM:301500 ; - oboInOwl:hasDbXref UMLS:C1439334 ; oboInOwl:hasExactSynonym "GLA", "alpha-galactosidase a", "galactosidase, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2717 ; - skos:exactMatch HGNC_symbol:GLA ; + skos:exactMatch UMLS:C1439334, + HGNC:4296, + HGNC_symbol:GLA ; biolink:category biolink:Gene . OMIM:300646 a owl:Class ; @@ -101994,14 +104468,15 @@ OMIM:300646 a owl:Class ; PMID:29681091 ; RO:0002525 CHR:9606chrXq26.1 ; RO:0003303 OMIM:300799 ; - oboInOwl:hasDbXref UMLS:C1425540, - UMLS:C3275406 ; oboInOwl:hasExactSynonym "ZDHHC9", "dhhc domain-containing protein 9", "zinc finger dhhc domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51114 ; - skos:exactMatch HGNC_symbol:ZDHHC9 ; + skos:exactMatch UMLS:C1425540, + UMLS:C3275406, + HGNC:18475, + HGNC_symbol:ZDHHC9 ; biolink:category biolink:Gene . OMIM:300647 a owl:Class ; @@ -102020,38 +104495,41 @@ OMIM:300647 a owl:Class ; PMID:9383023 ; RO:0002525 CHR:9606chrXq11.2 ; RO:0003303 OMIM:300373 ; - oboInOwl:hasDbXref UMLS:C1825263 ; oboInOwl:hasExactSynonym "AMER1", "apc membrane recruitment protein 1", "family with sequence similarity 123, member B", "wtx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139285 ; - skos:exactMatch HGNC_symbol:AMER1 ; + skos:exactMatch UMLS:C1825263, + HGNC:26837, + HGNC_symbol:AMER1 ; biolink:category biolink:Gene . OMIM:300648 a owl:Class ; rdfs:label "CT45A1" ; IAO:0000142 PMID:15905330 ; - oboInOwl:hasDbXref UMLS:C1970854 ; oboInOwl:hasExactSynonym "CT45A1", "cancer/testis antigen 45, member 1", "cancer/testis antigen family 45, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:541466 ; - skos:exactMatch HGNC_symbol:CT45A1 ; + skos:exactMatch UMLS:C1970854, + HGNC:33267, + HGNC_symbol:CT45A1 ; biolink:category biolink:Gene . OMIM:300649 a owl:Class ; rdfs:label "SLC38A5" ; IAO:0000142 PMID:11243884 ; - oboInOwl:hasDbXref UMLS:C1425281 ; oboInOwl:hasExactSynonym "SLC38A5", "solute carrier family 38 (amino acid transporter), member 5", "transport system n, protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92745 ; - skos:exactMatch HGNC_symbol:SLC38A5 ; + skos:exactMatch UMLS:C1425281, + HGNC:18070, + HGNC_symbol:SLC38A5 ; biolink:category biolink:Gene . OMIM:300651 a owl:Class ; @@ -102064,14 +104542,15 @@ OMIM:300651 a owl:Class ; PMID:19863546 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:305600 ; - oboInOwl:hasDbXref UMLS:C1538703 ; oboInOwl:hasExactSynonym "PORCN", "porc", "porcupine o-acyltransferase", "porcupine, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64840 ; - skos:exactMatch HGNC_symbol:PORCN ; + skos:exactMatch UMLS:C1538703, + HGNC:17652, + HGNC_symbol:PORCN ; biolink:category biolink:Gene . OMIM:300654 a owl:Class ; @@ -102080,51 +104559,55 @@ OMIM:300654 a owl:Class ; PMID:20655035, PMID:23352160, PMID:25885783 ; - oboInOwl:hasDbXref UMLS:C1825098 ; oboInOwl:hasExactSynonym "FAAH2", "fatty acid amide hydrolase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158584 ; - skos:exactMatch HGNC_symbol:FAAH2 ; + skos:exactMatch UMLS:C1825098, + HGNC:26440, + HGNC_symbol:FAAH2 ; biolink:category biolink:Gene . OMIM:300655 a owl:Class ; rdfs:label "KLHL13" ; IAO:0000142 PMID:10718198, PMID:17543862 ; - oboInOwl:hasDbXref UMLS:C1427788 ; oboInOwl:hasExactSynonym "KLHL13", "kelch-like 13", "kiaa1309" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90293 ; - skos:exactMatch HGNC_symbol:KLHL13 ; + skos:exactMatch UMLS:C1427788, + HGNC:22931, + HGNC_symbol:KLHL13 ; biolink:category biolink:Gene . OMIM:300656 a owl:Class ; rdfs:label "UPRT" ; IAO:0000142 PMID:17384901 ; - oboInOwl:hasDbXref UMLS:C1823601 ; oboInOwl:hasExactSynonym "UPRT", "uracil phosphoribosyltransferase homolog", "uracil phosphoribosyltransferase, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139596 ; - skos:exactMatch HGNC_symbol:UPRT ; + skos:exactMatch UMLS:C1823601, + HGNC:28334, + HGNC_symbol:UPRT ; biolink:category biolink:Gene . OMIM:300657 a owl:Class ; rdfs:label "CTAG1A" ; IAO:0000142 PMID:11709543, PMID:22121116 ; - oboInOwl:hasDbXref UMLS:C1539144 ; oboInOwl:hasExactSynonym "CTAG1A", "cancer/testis antigen 1a", "lage2, centromeric copy", "lage2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246100 ; - skos:exactMatch HGNC_symbol:CTAG1A ; + skos:exactMatch UMLS:C1539144, + HGNC:24198, + HGNC_symbol:CTAG1A ; biolink:category biolink:Gene . OMIM:300658 a owl:Class ; @@ -102171,14 +104654,15 @@ OMIM:300658 a owl:Class ; PMID:9618247 ; RO:0002525 CHR:9606chrXp11.3 ; RO:0003303 OMIM:310600 ; - oboInOwl:hasDbXref UMLS:C1417616 ; oboInOwl:hasExactSynonym "NDP", "ndp gene", "norrin", "norrin cystine knot growth factor ndp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4693 ; - skos:exactMatch HGNC_symbol:NDP ; + skos:exactMatch UMLS:C1417616, + HGNC:7678, + HGNC_symbol:NDP ; biolink:category biolink:Gene . OMIM:300660 a owl:Class ; @@ -102188,13 +104672,14 @@ OMIM:300660 a owl:Class ; OMIM:300662 a owl:Class ; rdfs:label "SNORA11" ; IAO:0000142 PMID:16361266 ; - oboInOwl:hasDbXref UMLS:C1822821 ; oboInOwl:hasExactSynonym "SNORA11", "small nucleolar rna, h/aca box, 11", "snorna, u107" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677799 ; - skos:exactMatch HGNC_symbol:SNORA11 ; + skos:exactMatch UMLS:C1822821, + HGNC:32599, + HGNC_symbol:SNORA11 ; biolink:category biolink:Gene . OMIM:300663 a owl:Class ; @@ -102204,7 +104689,6 @@ OMIM:300663 a owl:Class ; PMID:21177865, PMID:30661429, PMID:32732290 ; - oboInOwl:hasDbXref UMLS:C1825494 ; oboInOwl:hasExactSynonym "ATG4A", "apg4, s. cerevisiae, homolog of, a", "autl2", @@ -102213,67 +104697,74 @@ OMIM:300663 a owl:Class ; "autophagy-related 4a cysteine peptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115201 ; - skos:exactMatch HGNC_symbol:ATG4A ; + skos:exactMatch UMLS:C1825494, + HGNC:16489, + HGNC_symbol:ATG4A ; biolink:category biolink:Gene . OMIM:300664 a owl:Class ; rdfs:label "SPANXN1" ; IAO:0000142 PMID:14973187, PMID:17012309 ; - oboInOwl:hasDbXref UMLS:C1823084 ; oboInOwl:hasExactSynonym "SPANXN1", "spanx family, member n1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494118 ; - skos:exactMatch HGNC_symbol:SPANXN1 ; + skos:exactMatch UMLS:C1823084, + HGNC:33174, + HGNC_symbol:SPANXN1 ; biolink:category biolink:Gene . OMIM:300665 a owl:Class ; rdfs:label "SPANXN2" ; IAO:0000142 PMID:14973187, PMID:17012309 ; - oboInOwl:hasDbXref UMLS:C1823085 ; oboInOwl:hasExactSynonym "SPANXN2", "spanx family, member n2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494119 ; - skos:exactMatch HGNC_symbol:SPANXN2 ; + skos:exactMatch UMLS:C1823085, + HGNC:33175, + HGNC_symbol:SPANXN2 ; biolink:category biolink:Gene . OMIM:300666 a owl:Class ; rdfs:label "SPANXN3" ; IAO:0000142 PMID:14973187, PMID:17012309 ; - oboInOwl:hasDbXref UMLS:C1823086 ; oboInOwl:hasExactSynonym "SPANXN3", "spanx family, member n3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139067 ; - skos:exactMatch HGNC_symbol:SPANXN3 ; + skos:exactMatch UMLS:C1823086, + HGNC:33176, + HGNC_symbol:SPANXN3 ; biolink:category biolink:Gene . OMIM:300667 a owl:Class ; rdfs:label "SPANXN4" ; IAO:0000142 PMID:14973187, PMID:17012309 ; - oboInOwl:hasDbXref UMLS:C1823087 ; oboInOwl:hasExactSynonym "SPANXN4", "spanx family, member n4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441525 ; - skos:exactMatch HGNC_symbol:SPANXN4 ; + skos:exactMatch UMLS:C1823087, + HGNC:33177, + HGNC_symbol:SPANXN4 ; biolink:category biolink:Gene . OMIM:300668 a owl:Class ; rdfs:label "SPANXN5" ; IAO:0000142 PMID:14973187, PMID:17012309 ; - oboInOwl:hasDbXref UMLS:C1823088 ; oboInOwl:hasExactSynonym "SPANXN5", "spanx family, member n5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494197 ; - skos:exactMatch HGNC_symbol:SPANXN5 ; + skos:exactMatch UMLS:C1823088, + HGNC:33178, + HGNC_symbol:SPANXN5 ; biolink:category biolink:Gene . OMIM:300669 a owl:Class ; @@ -102283,22 +104774,23 @@ OMIM:300669 a owl:Class ; PMID:12758128, PMID:16251457, PMID:17012309 ; - oboInOwl:hasDbXref UMLS:C1422567 ; oboInOwl:hasExactSynonym "SPANXB1", "spanx family, member b1", "spanxb", "sperm protein associated with the nucleus, 10 chromosome, family member b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728695 ; - skos:exactMatch HGNC_symbol:SPANXB1 ; + skos:exactMatch UMLS:C1422567, + HGNC:14329, + HGNC_symbol:SPANXB1 ; biolink:category biolink:Gene . OMIM:300671 a owl:Class ; IAO:0000142 PMID:12758128, PMID:17012309 ; IAO:0100001 OMIM:300670 ; - oboInOwl:hasDbXref UMLS:C1425504 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1425504 . OMIM:300673 a owl:Class ; rdfs:label "encephalopathy, neonatal severe, due to mecp2 mutations" ; @@ -102315,19 +104807,20 @@ OMIM:300673 a owl:Class ; PMID:9326329, PMID:9546328, PMID:9620015 ; - oboInOwl:hasDbXref UMLS:C1968556 ; oboInOwl:hasExactSynonym "encephalopathy, neonatal severe, due to mecp2 mutations" ; + skos:exactMatch UMLS:C1968556 ; biolink:category biolink:Disease . OMIM:300674 a owl:Class ; rdfs:label "MOSPD1" ; IAO:0000142 PMID:15533722 ; - oboInOwl:hasDbXref UMLS:C1428457 ; oboInOwl:hasExactSynonym "MOSPD1", "motile sperm domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56180 ; - skos:exactMatch HGNC_symbol:MOSPD1 ; + skos:exactMatch UMLS:C1428457, + HGNC:25235, + HGNC_symbol:MOSPD1 ; biolink:category biolink:Gene . OMIM:300675 a owl:Class ; @@ -102335,40 +104828,43 @@ OMIM:300675 a owl:Class ; IAO:0000142 PMID:11558790, PMID:16214224, PMID:16407312 ; - oboInOwl:hasDbXref UMLS:C1425751 ; oboInOwl:hasExactSynonym "PNMA3", "paraneoplastic antigen ma3", "paraneoplastic ma antigen 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29944 ; - skos:exactMatch HGNC_symbol:PNMA3 ; + skos:exactMatch UMLS:C1425751, + HGNC:18742, + HGNC_symbol:PNMA3 ; biolink:category biolink:Gene . OMIM:300677 a owl:Class ; rdfs:label "TXLNG" ; IAO:0000142 PMID:15184072, PMID:15911876 ; - oboInOwl:hasDbXref UMLS:C1425616 ; oboInOwl:hasExactSynonym "TXLNG", "chromosome 10 open reading frame 15", "factor inhibiting atf4-mediated transcription", "taxilin, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55787 ; - skos:exactMatch HGNC_symbol:TXLNG ; + skos:exactMatch UMLS:C1425616, + HGNC:18578, + HGNC_symbol:TXLNG ; biolink:category biolink:Gene . OMIM:300678 a owl:Class ; rdfs:label "DUSP21" ; IAO:0000142 PMID:12408986, PMID:19228121 ; - oboInOwl:hasDbXref UMLS:C1426960 ; oboInOwl:hasExactSynonym "DUSP21", "dual-specificity phosphatase 21", "lmwdsp21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63904 ; - skos:exactMatch HGNC_symbol:DUSP21 ; + skos:exactMatch UMLS:C1426960, + HGNC:20476, + HGNC_symbol:DUSP21 ; biolink:category biolink:Gene . OMIM:300679 a owl:Class ; @@ -102404,23 +104900,24 @@ OMIM:300679 a owl:Class ; PMID:9188656, PMID:9709929 ; RO:0002525 CHR:9606chrXp21 ; - oboInOwl:hasDbXref UMLS:C0795887 ; oboInOwl:hasExactSynonym "chromosome xp21 deletion syndrome", "complex glycerol kinase deficiency" ; + skos:exactMatch UMLS:C0795887 ; biolink:category biolink:Disease . OMIM:300680 a owl:Class ; rdfs:label "PNCK" ; IAO:0000142 PMID:10673339, PMID:11034105 ; - oboInOwl:hasDbXref UMLS:C1538683 ; oboInOwl:hasExactSynonym "PNCK", "bstk3, mouse, homolog of", "calcium/calmodulin-dependent protein kinase i-beta", "pregnancy-upregulated, nonubiquitous, cam kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139728 ; - skos:exactMatch HGNC_symbol:PNCK ; + skos:exactMatch UMLS:C1538683, + HGNC:13415, + HGNC_symbol:PNCK ; biolink:category biolink:Gene . OMIM:300681 a owl:Class ; @@ -102428,14 +104925,15 @@ OMIM:300681 a owl:Class ; IAO:0000142 PMID:12432077, PMID:15710388, PMID:16968698 ; - oboInOwl:hasDbXref UMLS:C1428097 ; oboInOwl:hasExactSynonym "DOCK11", "activated cdc42-associated guanine nucleotide exchange factor", "dedicator of cytokinesis 11", "zizimin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139818 ; - skos:exactMatch HGNC_symbol:DOCK11 ; + skos:exactMatch UMLS:C1428097, + HGNC:23483, + HGNC_symbol:DOCK11 ; biolink:category biolink:Gene . OMIM:300682 a owl:Class ; @@ -102444,7 +104942,6 @@ OMIM:300682 a owl:Class ; PMID:17889671, PMID:18056638, PMID:27147225 ; - oboInOwl:hasDbXref UMLS:C1537908 ; oboInOwl:hasExactSynonym "MIR424", "micro RNA 322", "micro RNA 424", @@ -102454,7 +104951,9 @@ OMIM:300682 a owl:Class ; "mirna424" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494336 ; - skos:exactMatch HGNC_symbol:MIR424 ; + skos:exactMatch UMLS:C1537908, + HGNC:31881, + HGNC_symbol:MIR424 ; biolink:category biolink:Gene . OMIM:300683 a owl:Class ; @@ -102465,8 +104964,6 @@ OMIM:300683 a owl:Class ; PMID:17637674, PMID:17803907, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1423771, - UMLS:C3888193 ; oboInOwl:hasExactSynonym "SEPT6", "kiaa0128", "sep2, drosophila, homolog of", @@ -102474,13 +104971,15 @@ OMIM:300683 a owl:Class ; "septin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23157 ; - skos:exactMatch HGNC_symbol:SEPTIN6 ; + skos:exactMatch UMLS:C1423771, + UMLS:C3888193, + HGNC:15848, + HGNC_symbol:SEPTIN6 ; biolink:category biolink:Gene . OMIM:300684 a owl:Class ; rdfs:label "XKRX" ; IAO:0000142 PMID:16431037 ; - oboInOwl:hasDbXref UMLS:C1538122 ; oboInOwl:hasExactSynonym "XKRX", "membrane protein xplac", "x kell blood group precursor-related, X-linked", @@ -102488,47 +104987,52 @@ OMIM:300684 a owl:Class ; "xrg2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402415 ; - skos:exactMatch HGNC_symbol:XKRX ; + skos:exactMatch UMLS:C1538122, + HGNC:29845, + HGNC_symbol:XKRX ; biolink:category biolink:Gene . OMIM:300685 a owl:Class ; rdfs:label "PRRG3" ; IAO:0000142 PMID:11171957 ; - oboInOwl:hasDbXref UMLS:C1538725 ; oboInOwl:hasExactSynonym "PRRG3", "proline-rich gamma-carboxyglutamic acid protein 3", "proline-rich gla protein 3", "transmembrane gamma-carboxyglutamic acid protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79057 ; - skos:exactMatch HGNC_symbol:PRRG3 ; + skos:exactMatch UMLS:C1538725, + HGNC:30798, + HGNC_symbol:PRRG3 ; biolink:category biolink:Gene . OMIM:300686 a owl:Class ; rdfs:label "MIR448" ; IAO:0000142 PMID:15735639, PMID:17943132 ; - oboInOwl:hasDbXref UMLS:C1826026 ; oboInOwl:hasExactSynonym "MIR448", "micro RNA 448", "mirn448", "mirna448" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:554212 ; - skos:exactMatch HGNC_symbol:MIR448 ; + skos:exactMatch UMLS:C1826026, + HGNC:26069, + HGNC_symbol:MIR448 ; biolink:category biolink:Gene . OMIM:300687 a owl:Class ; rdfs:label "ERCC6L" ; IAO:0000142 PMID:17218258, PMID:20360068 ; - oboInOwl:hasDbXref UMLS:C2239388 ; oboInOwl:hasExactSynonym "ERCC6L", "ercc6-like", "pik1-interacting checkpoint helicase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54821 ; - skos:exactMatch HGNC_symbol:ERCC6L ; + skos:exactMatch UMLS:C2239388, + HGNC:20794, + HGNC_symbol:ERCC6L ; biolink:category biolink:Gene . OMIM:300688 a owl:Class ; @@ -102539,12 +105043,13 @@ OMIM:300688 a owl:Class ; PMID:30941876 ; RO:0002525 CHR:9606chrXq26.1 ; RO:0003303 OMIM:301029 ; - oboInOwl:hasDbXref UMLS:C1538320 ; oboInOwl:hasExactSynonym "BCORL1", "bcl6 corepressor-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63035 ; - skos:exactMatch HGNC_symbol:BCORL1 ; + skos:exactMatch UMLS:C1538320, + HGNC:25657, + HGNC_symbol:BCORL1 ; biolink:category biolink:Gene . OMIM:300689 a owl:Class ; @@ -102553,7 +105058,6 @@ OMIM:300689 a owl:Class ; PMID:17517630, PMID:17976533, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1426052 ; oboInOwl:hasExactSynonym "STARD8", "deleted 1n liver cancer 3", "kiaa0189", @@ -102561,7 +105065,9 @@ OMIM:300689 a owl:Class ; "startgap3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9754 ; - skos:exactMatch HGNC_symbol:STARD8 ; + skos:exactMatch UMLS:C1426052, + HGNC:19161, + HGNC_symbol:STARD8 ; biolink:category biolink:Gene . OMIM:300690 a owl:Class ; @@ -102573,12 +105079,13 @@ OMIM:300690 a owl:Class ; PMID:16818640, PMID:17638883, PMID:17884015 ; - oboInOwl:hasDbXref UMLS:C1412787 ; oboInOwl:hasExactSynonym "BEX1", "brain-expressed X-linked gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55859 ; - skos:exactMatch HGNC_symbol:BEX1 ; + skos:exactMatch UMLS:C1412787, + HGNC:1036, + HGNC_symbol:BEX1 ; biolink:category biolink:Gene . OMIM:300691 a owl:Class ; @@ -102588,38 +105095,41 @@ OMIM:300691 a owl:Class ; PMID:16314316, PMID:16818640, PMID:17638883 ; - oboInOwl:hasDbXref UMLS:C1429014 ; oboInOwl:hasExactSynonym "BEX2", "brain-expressed X-linked gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84707 ; - skos:exactMatch HGNC_symbol:BEX2 ; + skos:exactMatch UMLS:C1429014, + HGNC:30933, + HGNC_symbol:BEX2 ; biolink:category biolink:Gene . OMIM:300692 a owl:Class ; rdfs:label "BEX4" ; IAO:0000142 PMID:15958283 ; - oboInOwl:hasDbXref UMLS:C1428491 ; oboInOwl:hasExactSynonym "BEX4", "bex family member 4", "brain-expressed X-linked gene 4", "brain-expressed X-linked gene-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56271 ; - skos:exactMatch HGNC_symbol:BEX4 ; + skos:exactMatch UMLS:C1428491, + HGNC:25475, + HGNC_symbol:BEX4 ; biolink:category biolink:Gene . OMIM:300693 a owl:Class ; rdfs:label "BEX5" ; IAO:0000142 PMID:15958283 ; - oboInOwl:hasDbXref UMLS:C2240210 ; oboInOwl:hasExactSynonym "BEX5", "bex family member 5", "brain-expressed X-linked gene 5", "ngfrap1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340542 ; - skos:exactMatch HGNC_symbol:BEX5 ; + skos:exactMatch UMLS:C2240210, + HGNC:27990, + HGNC_symbol:BEX5 ; biolink:category biolink:Gene . OMIM:300694 a owl:Class ; @@ -102632,14 +105142,15 @@ OMIM:300694 a owl:Class ; PMID:23325891, PMID:23459944, PMID:24227773 ; - oboInOwl:hasDbXref UMLS:C1537861 ; oboInOwl:hasExactSynonym "MIR223", "micro RNA 223", "mirn223", "mirna223" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407008 ; - skos:exactMatch HGNC_symbol:MIR223 ; + skos:exactMatch UMLS:C1537861, + HGNC:31603, + HGNC_symbol:MIR223 ; biolink:category biolink:Gene . OMIM:300696 a owl:Class ; @@ -102648,12 +105159,12 @@ OMIM:300696 a owl:Class ; PMID:19687455, PMID:19716112, PMID:20186852 ; - oboInOwl:hasDbXref UMLS:C2678055, - UMLS:C2749106 ; oboInOwl:hasExactSynonym "XMPMA", "emery-dreifuss muscular dystrophy 6, X-linked", "myopathy, x-linked, with postural muscle atrophy" ; rdfs:subClassOf OMIMPS:310300 ; + skos:exactMatch UMLS:C2678055, + UMLS:C2749106 ; biolink:category biolink:Disease . OMIM:300697 a owl:Class ; @@ -102676,8 +105187,6 @@ OMIM:300697 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:309590 ; - oboInOwl:hasDbXref UMLS:C1537395, - UMLS:C2678046 ; oboInOwl:hasExactSynonym "HUWE1", "hect, uba, and wwe domains-containing protein 1", "kiaa0312", @@ -102686,31 +105195,36 @@ OMIM:300697 a owl:Class ; "ure-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10075 ; - skos:exactMatch HGNC_symbol:HUWE1 ; + skos:exactMatch UMLS:C1537395, + UMLS:C2678046, + HGNC:30892, + HGNC_symbol:HUWE1 ; biolink:category biolink:Gene . OMIM:300698 a owl:Class ; rdfs:label "TMEM47" ; IAO:0000142 PMID:11472633 ; - oboInOwl:hasDbXref UMLS:C1540021 ; oboInOwl:hasExactSynonym "TMEM47", "brain cell membrane protein 1", "transmembrane protein 47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83604 ; - skos:exactMatch HGNC_symbol:TMEM47 ; + skos:exactMatch UMLS:C1540021, + HGNC:18515, + HGNC_symbol:TMEM47 ; biolink:category biolink:Gene . OMIM:300701 a owl:Class ; rdfs:label "ZCCHC12" ; IAO:0000142 PMID:18160706 ; - oboInOwl:hasDbXref UMLS:C1538160 ; oboInOwl:hasExactSynonym "ZCCHC12", "smad-interacting zinc finger protein 1", "zinc finger cchc domain-containing protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170261 ; - skos:exactMatch HGNC_symbol:ZCCHC12 ; + skos:exactMatch UMLS:C1538160, + HGNC:27273, + HGNC_symbol:ZCCHC12 ; biolink:category biolink:Gene . OMIM:300702 a owl:Class ; @@ -102720,14 +105234,15 @@ OMIM:300702 a owl:Class ; PMID:11454705, PMID:11602350, PMID:16225959 ; - oboInOwl:hasDbXref UMLS:C1428262 ; oboInOwl:hasExactSynonym "MAGED4", "kiaa1859", "magee1", "melanoma antigen, family d, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728239 ; - skos:exactMatch HGNC_symbol:MAGED4 ; + skos:exactMatch UMLS:C1428262, + HGNC:23793, + HGNC_symbol:MAGED4 ; biolink:category biolink:Gene . OMIM:300705 a owl:Class ; @@ -102738,12 +105253,12 @@ OMIM:300705 a owl:Class ; PMID:7943039, PMID:8826460 ; RO:0002525 CHR:9606chrXp11.22 ; - oboInOwl:hasDbXref UMLS:C0796223, - UMLS:C0796238 ; oboInOwl:hasExactSynonym "chromosome xp11.22 duplication syndrome", "mental retardation, X-linked 17", "mental retardation, X-linked 31" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796223, + UMLS:C0796238 ; biolink:category biolink:Disease . OMIM:300706 a owl:Class ; @@ -102757,12 +105272,13 @@ OMIM:300708 a owl:Class ; PMID:8818947 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300707 ; - oboInOwl:hasDbXref UMLS:C1825117 ; oboInOwl:hasExactSynonym "FAM58A", "family with sequence similarity 58, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92002 ; - skos:exactMatch HGNC_symbol:CCNQ ; + skos:exactMatch UMLS:C1825117, + HGNC:28434, + HGNC_symbol:CCNQ ; biolink:category biolink:Gene . OMIM:300709 a owl:Class ; @@ -102770,11 +105286,11 @@ OMIM:300709 a owl:Class ; IAO:0000142 PMID:10331611, PMID:10797443 ; RO:0002525 CHR:9606chrXq12-q21.31 ; - oboInOwl:hasDbXref UMLS:C2678039 ; oboInOwl:hasExactSynonym "MRXS9", "intellectual developmental disorder, x-linked, syndromic 9", "mental retardation, x-linked, syndromic 9" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C2678039 ; biolink:category biolink:Disease . OMIM:300713 a owl:Class ; @@ -102785,26 +105301,28 @@ OMIM:300713 a owl:Class ; PMID:33523931 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:301056 ; - oboInOwl:hasDbXref UMLS:C1826521 ; oboInOwl:hasExactSynonym "OTUD5", "duba", "otu domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55593 ; - skos:exactMatch HGNC_symbol:OTUD5 ; + skos:exactMatch UMLS:C1826521, + HGNC:25402, + HGNC_symbol:OTUD5 ; biolink:category biolink:Gene . OMIM:300714 a owl:Class ; rdfs:label "OTUD6A" ; IAO:0000142 PMID:17991829 ; - oboInOwl:hasDbXref UMLS:C1826522 ; oboInOwl:hasExactSynonym "OTUD6A", "duba2", "hin6 protease", "otu domain-containing protein 6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139562 ; - skos:exactMatch HGNC_symbol:OTUD6A ; + skos:exactMatch UMLS:C1826522, + HGNC:32312, + HGNC_symbol:OTUD6A ; biolink:category biolink:Gene . OMIM:300715 a owl:Class ; @@ -102822,13 +105340,14 @@ OMIM:300715 a owl:Class ; PMID:31036665 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:300853 ; - oboInOwl:hasDbXref UMLS:C2239666 ; oboInOwl:hasExactSynonym "MAGT1", "iap", "magnesium transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84061 ; - skos:exactMatch HGNC_symbol:MAGT1 ; + skos:exactMatch UMLS:C2239666, + HGNC:28880, + HGNC_symbol:MAGT1 ; biolink:category biolink:Gene . OMIM:300717 a owl:Class ; @@ -102839,9 +105358,9 @@ OMIM:300717 a owl:Class ; PMID:19181672, PMID:4117299, PMID:7722535 ; - oboInOwl:hasDbXref UMLS:C4225423 ; oboInOwl:hasExactSynonym "RBMX1A", "reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset" ; + skos:exactMatch UMLS:C4225423 ; biolink:category biolink:Disease . OMIM:300718 a owl:Class ; @@ -102853,27 +105372,27 @@ OMIM:300718 a owl:Class ; PMID:18952429, PMID:19171836, PMID:7709723 ; - oboInOwl:hasDbXref UMLS:C4225159 ; oboInOwl:hasExactSynonym "RBMX1B", "reducing body myopathy, X-linked 1b, with late childhood or adult onset" ; + skos:exactMatch UMLS:C4225159 ; biolink:category biolink:Disease . OMIM:300720 a owl:Class ; rdfs:label "GAGE2A" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C1414931 ; oboInOwl:hasExactSynonym "GAGE2A", "g antigen 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729447 ; - skos:exactMatch HGNC_symbol:GAGE2A ; + skos:exactMatch UMLS:C1414931, + HGNC:4099, + HGNC_symbol:GAGE2A ; biolink:category biolink:Gene . OMIM:300721 a owl:Class ; rdfs:label "MIRLET7F2" ; IAO:0000142 PMID:11679670, PMID:17437991 ; - oboInOwl:hasDbXref UMLS:C1537918 ; oboInOwl:hasExactSynonym "MIRLET7F2", "let7, c. elegans, homolog of, f2", "micro RNA let7f2", @@ -102881,7 +105400,9 @@ OMIM:300721 a owl:Class ; "mirnlet7f2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406889 ; - skos:exactMatch HGNC_symbol:MIRLET7F2 ; + skos:exactMatch UMLS:C1537918, + HGNC:31484, + HGNC_symbol:MIRLET7F2 ; biolink:category biolink:Gene . OMIM:300722 a owl:Class ; @@ -102889,27 +105410,29 @@ OMIM:300722 a owl:Class ; IAO:0000142 PMID:11679670, PMID:11914277, PMID:21642990 ; - oboInOwl:hasDbXref UMLS:C1537717 ; oboInOwl:hasExactSynonym "MIR19B2", "micro RNA 19b2", "mirn19b2", "mirna19b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406981 ; - skos:exactMatch HGNC_symbol:MIR19B2 ; + skos:exactMatch UMLS:C1537717, + HGNC:31576, + HGNC_symbol:MIR19B2 ; biolink:category biolink:Gene . OMIM:300723 a owl:Class ; rdfs:label "SYTL4" ; IAO:0000142 PMID:10497219, PMID:16831872 ; - oboInOwl:hasDbXref UMLS:C1423598 ; oboInOwl:hasExactSynonym "SYTL4", "granuphilin", "synaptotagmin-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94121 ; - skos:exactMatch HGNC_symbol:SYTL4 ; + skos:exactMatch UMLS:C1423598, + HGNC:15588, + HGNC_symbol:SYTL4 ; biolink:category biolink:Gene . OMIM:300724 a owl:Class ; @@ -102927,7 +105450,6 @@ OMIM:300724 a owl:Class ; PMID:28098945 ; RO:0002525 CHR:9606chrXp22.12 ; RO:0003303 OMIM:301008 ; - oboInOwl:hasDbXref UMLS:C1539114 ; oboInOwl:hasExactSynonym "CNKSR2", "cnk, drosophila, homolog of, 2", "connector enhancer of kinase suppressor of ras 2", @@ -102935,7 +105457,9 @@ OMIM:300724 a owl:Class ; "kiaa0902" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22866 ; - skos:exactMatch HGNC_symbol:CNKSR2 ; + skos:exactMatch UMLS:C1539114, + HGNC:19701, + HGNC_symbol:CNKSR2 ; biolink:category biolink:Gene . OMIM:300725 a owl:Class ; @@ -102944,215 +105468,232 @@ OMIM:300725 a owl:Class ; PMID:23723238, PMID:25567907, PMID:7499430 ; - oboInOwl:hasDbXref UMLS:C1426516 ; oboInOwl:hasExactSynonym "RRAGB", "ragb", "ras-related gtp-binding protein B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10325 ; - skos:exactMatch HGNC_symbol:RRAGB ; + skos:exactMatch UMLS:C1426516, + HGNC:19901, + HGNC_symbol:RRAGB ; biolink:category biolink:Gene . OMIM:300726 a owl:Class ; rdfs:label "GAGE2B" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C2239466 ; oboInOwl:hasExactSynonym "GAGE2B", "g antigen 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645037 ; - skos:exactMatch HGNC_symbol:GAGE2B ; + skos:exactMatch UMLS:C2239466, + HGNC:31957, + HGNC_symbol:GAGE2B ; biolink:category biolink:Gene . OMIM:300727 a owl:Class ; rdfs:label "GAGE12C" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C1825332 ; oboInOwl:hasExactSynonym "GAGE12C", "g antigen 12c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729422 ; - skos:exactMatch HGNC_symbol:GAGE12C ; + skos:exactMatch UMLS:C1825332, + HGNC:28402, + HGNC_symbol:GAGE12C ; biolink:category biolink:Gene . OMIM:300728 a owl:Class ; rdfs:label "GAGE12D" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C1825333 ; oboInOwl:hasExactSynonym "GAGE12D", "g antigen 12d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100132399 ; - skos:exactMatch HGNC_symbol:GAGE12D ; + skos:exactMatch UMLS:C1825333, + HGNC:31904, + HGNC_symbol:GAGE12D ; biolink:category biolink:Gene . OMIM:300729 a owl:Class ; rdfs:label "GAGE12E" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C1825334 ; oboInOwl:hasExactSynonym "GAGE12E", "g antigen 12e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729431 ; - skos:exactMatch HGNC_symbol:GAGE12E ; + skos:exactMatch UMLS:C1825334, + HGNC:31905, + HGNC_symbol:GAGE12E ; biolink:category biolink:Gene . OMIM:300730 a owl:Class ; rdfs:label "GAGE12F" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C1825335 ; oboInOwl:hasExactSynonym "GAGE12F", "g antigen 12f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100008586 ; - skos:exactMatch HGNC_symbol:GAGE12F ; + skos:exactMatch UMLS:C1825335, + HGNC:31906, + HGNC_symbol:GAGE12F ; biolink:category biolink:Gene . OMIM:300731 a owl:Class ; rdfs:label "GAGE12G" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C1825336 ; oboInOwl:hasExactSynonym "GAGE12G", "g antigen 12g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645073 ; - skos:exactMatch HGNC_symbol:GAGE12G ; + skos:exactMatch UMLS:C1825336, + HGNC:31907, + HGNC_symbol:GAGE12G ; biolink:category biolink:Gene . OMIM:300732 a owl:Class ; rdfs:label "GAGE12H" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C1825337 ; oboInOwl:hasExactSynonym "GAGE12H", "g antigen 12h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729442 ; - skos:exactMatch HGNC_symbol:GAGE12H ; + skos:exactMatch UMLS:C1825337, + HGNC:31908, + HGNC_symbol:GAGE12H ; biolink:category biolink:Gene . OMIM:300733 a owl:Class ; rdfs:label "GAGE12J" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C1825329 ; oboInOwl:hasExactSynonym "GAGE12J", "g antigen 12j" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729396 ; - skos:exactMatch HGNC_symbol:GAGE12J ; + skos:exactMatch UMLS:C1825329, + HGNC:17778, + HGNC_symbol:GAGE12J ; biolink:category biolink:Gene . OMIM:300734 a owl:Class ; rdfs:label "GAGE13" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C1825330 ; oboInOwl:hasExactSynonym "GAGE13", "g antigen 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645051 ; - skos:exactMatch HGNC_symbol:GAGE13 ; + skos:exactMatch UMLS:C1825330, + HGNC:29081, + HGNC_symbol:GAGE13 ; biolink:category biolink:Gene . OMIM:300735 a owl:Class ; rdfs:label "GAGE2D" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C2239468 ; oboInOwl:hasExactSynonym "GAGE2D", "g antigen 2d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729408 ; - skos:exactMatch HGNC_symbol:GAGE2D ; + skos:exactMatch UMLS:C2239468, + HGNC:31959, + HGNC_symbol:GAGE2D ; biolink:category biolink:Gene . OMIM:300736 a owl:Class ; rdfs:label "GAGE2E" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C2242852 ; oboInOwl:hasExactSynonym "GAGE2E", "g antigen 2e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26749 ; - skos:exactMatch HGNC_symbol:GAGE2E ; + skos:exactMatch UMLS:C2242852, + HGNC:31960, + HGNC_symbol:GAGE2E ; biolink:category biolink:Gene . OMIM:300737 a owl:Class ; rdfs:label "GAGE10" ; IAO:0000142 PMID:18179644 ; - oboInOwl:hasDbXref UMLS:C1825328 ; oboInOwl:hasExactSynonym "GAGE10", "g antigen 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:102724473 ; - skos:exactMatch HGNC_symbol:GAGE10 ; + skos:exactMatch UMLS:C1825328, + HGNC:30968, + HGNC_symbol:GAGE10 ; biolink:category biolink:Gene . OMIM:300738 a owl:Class ; rdfs:label "PAGE2" ; IAO:0000142 PMID:9724777 ; - oboInOwl:hasDbXref UMLS:C1538567 ; oboInOwl:hasExactSynonym "PAGE2", "gagec2", "p antigen family, member 2", "prostate-associated gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203569 ; - skos:exactMatch HGNC_symbol:PAGE2 ; + skos:exactMatch UMLS:C1538567, + HGNC:31804, + HGNC_symbol:PAGE2 ; biolink:category biolink:Gene . OMIM:300739 a owl:Class ; rdfs:label "PAGE3" ; IAO:0000142 PMID:9724777 ; - oboInOwl:hasDbXref UMLS:C1538568 ; oboInOwl:hasExactSynonym "PAGE3", "gaged1", "p antigen family, member 3", "prostate-associated gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139793 ; - skos:exactMatch HGNC_symbol:PAGE3 ; + skos:exactMatch UMLS:C1538568, + HGNC:4110, + HGNC_symbol:PAGE3 ; biolink:category biolink:Gene . OMIM:300740 a owl:Class ; rdfs:label "XAGE3" ; IAO:0000142 PMID:10197611 ; - oboInOwl:hasDbXref UMLS:C1538120 ; oboInOwl:hasExactSynonym "XAGE3", "placenta-specific 6", "x antigen family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170626 ; - skos:exactMatch HGNC_symbol:XAGE3 ; + skos:exactMatch UMLS:C1538120, + HGNC:14618, + HGNC_symbol:XAGE3 ; biolink:category biolink:Gene . OMIM:300741 a owl:Class ; rdfs:label "FAM120C" ; IAO:0000142 PMID:14585507 ; - oboInOwl:hasDbXref UMLS:C1825258 ; oboInOwl:hasExactSynonym "FAM120C", "chromosome 10 open reading frame 17", "family with sequence similarity 120, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54954 ; - skos:exactMatch HGNC_symbol:FAM120C ; + skos:exactMatch UMLS:C1825258, + HGNC:16949, + HGNC_symbol:FAM120C ; biolink:category biolink:Gene . OMIM:300743 a owl:Class ; IAO:0000142 PMID:16382448, PMID:17332921 ; IAO:0100001 OMIM:300742 ; - oboInOwl:hasDbXref UMLS:C1823866 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1823866 . OMIM:300744 a owl:Class ; IAO:0000142 PMID:16382448 ; IAO:0100001 OMIM:300289 ; - oboInOwl:hasDbXref UMLS:C1823867 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1823867 . OMIM:300745 a owl:Class ; IAO:0000142 PMID:16382448 ; IAO:0100001 OMIM:300289 ; - oboInOwl:hasDbXref UMLS:C1823869 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1823869 . OMIM:300746 a owl:Class ; rdfs:label "F9" ; @@ -103317,21 +105858,22 @@ OMIM:300746 a owl:Class ; PMID:9639513 ; RO:0002525 CHR:9606chrXq27.1 ; RO:0003303 OMIM:301052 ; - oboInOwl:hasDbXref UMLS:C0008533, - UMLS:C1366464, - UMLS:C2749016, - UMLS:C3275410, - UMLS:C4016495, - UMLS:C4016496, - UMLS:C4016497, - UMLS:C5393318 ; oboInOwl:hasExactSynonym "F9", "coagulation factor 9", "factor 9", "plasma thromboplastin component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2158 ; - skos:exactMatch HGNC_symbol:F9 ; + skos:exactMatch UMLS:C0008533, + UMLS:C1366464, + UMLS:C2749016, + UMLS:C3275410, + UMLS:C4016495, + UMLS:C4016496, + UMLS:C4016497, + UMLS:C5393318, + HGNC:3551, + HGNC_symbol:F9 ; biolink:category biolink:Gene . OMIM:300747 a owl:Class ; @@ -103380,7 +105922,6 @@ OMIM:300747 a owl:Class ; PMID:9252398 ; RO:0002525 CHR:9606chrXp22.31 ; RO:0003303 OMIM:308100 ; - oboInOwl:hasDbXref UMLS:C1420490 ; oboInOwl:hasExactSynonym "STS", "arylsulfatase c", "estrone sulfatase", @@ -103388,7 +105929,9 @@ OMIM:300747 a owl:Class ; "steroid sulfatase, isozyme s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:412 ; - skos:exactMatch HGNC_symbol:STS ; + skos:exactMatch UMLS:C1420490, + HGNC:11425, + HGNC_symbol:STS ; biolink:category biolink:Gene . OMIM:300749 a owl:Class ; @@ -103399,7 +105942,6 @@ OMIM:300749 a owl:Class ; PMID:21954287, PMID:22709267, PMID:23165780 ; - oboInOwl:hasDbXref UMLS:C2677903 ; oboInOwl:hasExactSynonym "MICPCH", "intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia", "intellectual developmental disorder, x-linked, syndromic, najm iia", @@ -103407,6 +105949,7 @@ OMIM:300749 a owl:Class ; "mental retardation, x-linked, syndromic, najm iia", "micpch syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C2677903 ; biolink:category biolink:Disease . OMIM:300751 a owl:Class ; @@ -103444,7 +105987,6 @@ OMIM:300751 a owl:Class ; PMID:9445416, PMID:9634367, PMID:9806542 ; - oboInOwl:hasDbXref UMLS:C4551511 ; oboInOwl:hasExactSynonym "SIDBA1", "anemia, hereditary sideroblastic", "anemia, hypochromic", @@ -103452,6 +105994,7 @@ OMIM:300751 a owl:Class ; "anemia, sideroblastic, X-linked", "hereditary iron-loading anemia" ; rdfs:subClassOf OMIMPS:300751 ; + skos:exactMatch UMLS:C4551511 ; biolink:category biolink:Disease . OMIM:300753 a owl:Class ; @@ -103459,7 +106002,6 @@ OMIM:300753 a owl:Class ; IAO:0000142 PMID:16956892, PMID:23704930, PMID:25764979 ; - oboInOwl:hasDbXref UMLS:C1824093 ; oboInOwl:hasExactSynonym "APOO", "apolipoprotein o", "family with sequence similarity 121b", @@ -103468,21 +106010,24 @@ OMIM:300753 a owl:Class ; "my025" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79135 ; - skos:exactMatch HGNC_symbol:APOO ; + skos:exactMatch UMLS:C1824093, + HGNC:28727, + HGNC_symbol:APOO ; biolink:category biolink:Gene . OMIM:300754 a owl:Class ; rdfs:label "TAF9B" ; IAO:0000142 PMID:12837753, PMID:15899866 ; - oboInOwl:hasDbXref UMLS:C1823225 ; oboInOwl:hasExactSynonym "TAF9B", "taf9b RNA polymerase ii, tata box-binding protein-associated factor, 31-kd", "taf9l", "tafii31l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51616 ; - skos:exactMatch HGNC_symbol:TAF9B ; + skos:exactMatch UMLS:C1823225, + HGNC:17306, + HGNC_symbol:TAF9B ; biolink:category biolink:Gene . OMIM:300755 a owl:Class ; @@ -103542,8 +106087,6 @@ OMIM:300755 a owl:Class ; PMID:8380905, PMID:8624673, PMID:8982147 ; - oboInOwl:hasDbXref UMLS:C0221026, - UMLS:C0241932 ; oboInOwl:hasExactSynonym "XLA", "agammaglobulinemia, X-linked", "agammaglobulinemia, x-linked, iia 1", @@ -103552,6 +106095,8 @@ OMIM:300755 a owl:Class ; "immunodeficiency 1" ; rdfs:subClassOf OMIMPS:300755, OMIMPS:601495 ; + skos:exactMatch UMLS:C0221026, + UMLS:C0241932 ; biolink:category biolink:Disease . OMIM:300757 a owl:Class ; @@ -103569,13 +106114,14 @@ OMIM:300757 a owl:Class ; PMID:9697692 ; RO:0002525 CHR:9606chrXp11.3 ; RO:0003303 OMIM:312600 ; - oboInOwl:hasDbXref UMLS:C1419608 ; oboInOwl:hasExactSynonym "RP2", "rp2 activator of arl3 gtpase", "rp2 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6102 ; - skos:exactMatch HGNC_symbol:RP2 ; + skos:exactMatch UMLS:C1419608, + HGNC:10274, + HGNC_symbol:RP2 ; biolink:category biolink:Gene . OMIM:300759 a owl:Class ; @@ -103583,79 +106129,86 @@ OMIM:300759 a owl:Class ; IAO:0000142 PMID:10997877, PMID:11454705, PMID:14623885 ; - oboInOwl:hasDbXref UMLS:C2681922 ; oboInOwl:hasExactSynonym "MAGEE1", "dystrobrevin-associated mage protein", "kiaa1587", "melanoma antigen, family e, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57692 ; - skos:exactMatch HGNC_symbol:MAGEE1 ; + skos:exactMatch UMLS:C2681922, + HGNC:24934, + HGNC_symbol:MAGEE1 ; biolink:category biolink:Gene . OMIM:300760 a owl:Class ; rdfs:label "MAGEE2" ; IAO:0000142 PMID:11454705, PMID:19200524 ; - oboInOwl:hasDbXref UMLS:C1537641 ; oboInOwl:hasExactSynonym "MAGEE2", "melanoma antigen, family e, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139599 ; - skos:exactMatch HGNC_symbol:MAGEE2 ; + skos:exactMatch UMLS:C1537641, + HGNC:24935, + HGNC_symbol:MAGEE2 ; biolink:category biolink:Gene . OMIM:300761 a owl:Class ; rdfs:label "MAGEB10" ; IAO:0000142 PMID:11454705 ; - oboInOwl:hasDbXref UMLS:C1537637 ; oboInOwl:hasExactSynonym "MAGEB10", "melanoma antigen, family b, 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139422 ; - skos:exactMatch HGNC_symbol:MAGEB10 ; + skos:exactMatch UMLS:C1537637, + HGNC:25377, + HGNC_symbol:MAGEB10 ; biolink:category biolink:Gene . OMIM:300762 a owl:Class ; rdfs:label "MAGEB16" ; IAO:0000142 PMID:11454705 ; - oboInOwl:hasDbXref UMLS:C1537638 ; oboInOwl:hasExactSynonym "MAGEB16", "melanoma antigen, family b, 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139604 ; - skos:exactMatch HGNC_symbol:MAGEB16 ; + skos:exactMatch UMLS:C1537638, + HGNC:21188, + HGNC_symbol:MAGEB16 ; biolink:category biolink:Gene . OMIM:300763 a owl:Class ; rdfs:label "MAGEB17" ; IAO:0000142 PMID:11454705 ; - oboInOwl:hasDbXref UMLS:C1537639 ; oboInOwl:hasExactSynonym "MAGEB17", "melanoma antigen, family b, 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645864 ; - skos:exactMatch HGNC_symbol:MAGEB17 ; + skos:exactMatch UMLS:C1537639, + HGNC:17418, + HGNC_symbol:MAGEB17 ; biolink:category biolink:Gene . OMIM:300764 a owl:Class ; rdfs:label "MAGEA9B" ; - oboInOwl:hasDbXref UMLS:C1825935 ; oboInOwl:hasExactSynonym "MAGEA9B", "melanoma antigen, family a, 9b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728269 ; - skos:exactMatch HGNC_symbol:MAGEA9B ; + skos:exactMatch UMLS:C1825935, + HGNC:31909, + HGNC_symbol:MAGEA9B ; biolink:category biolink:Gene . OMIM:300765 a owl:Class ; rdfs:label "MAGED4B" ; - oboInOwl:hasDbXref UMLS:C1825937 ; oboInOwl:hasExactSynonym "MAGED4B", "melanoma antigen, family d, 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81557 ; - skos:exactMatch HGNC_symbol:MAGED4B ; + skos:exactMatch UMLS:C1825937, + HGNC:22880, + HGNC_symbol:MAGED4B ; biolink:category biolink:Gene . OMIM:300766 a owl:Class ; @@ -103668,27 +106221,29 @@ OMIM:300766 a owl:Class ; PMID:31587868 ; RO:0002525 CHR:9606chrXq24 ; RO:0003303 OMIM:301039 ; - oboInOwl:hasDbXref UMLS:C2239784, - UMLS:C5393302 ; oboInOwl:hasExactSynonym "NKAP", "nfkb-activating protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79576 ; - skos:exactMatch HGNC_symbol:NKAP ; + skos:exactMatch UMLS:C2239784, + UMLS:C5393302, + HGNC:29873, + HGNC_symbol:NKAP ; biolink:category biolink:Gene . OMIM:300767 a owl:Class ; rdfs:label "RPA4" ; IAO:0000142 PMID:19116208, PMID:7760808 ; - oboInOwl:hasDbXref UMLS:C1538883 ; oboInOwl:hasExactSynonym "RPA4", "replication protein a complex, 34-kd subunit, homolog of", "replication protein a4", "rpa2, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29935 ; - skos:exactMatch HGNC_symbol:RPA4 ; + skos:exactMatch UMLS:C1538883, + HGNC:30305, + HGNC_symbol:RPA4 ; biolink:category biolink:Gene . OMIM:300769 a owl:Class ; @@ -103697,25 +106252,27 @@ OMIM:300769 a owl:Class ; PMID:16331254, PMID:18270258, PMID:18319255 ; - oboInOwl:hasDbXref UMLS:C1537862 ; oboInOwl:hasExactSynonym "MIR224", "micro RNA 224", "mirn224", "mirna224" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407009 ; - skos:exactMatch HGNC_symbol:MIR224 ; + skos:exactMatch UMLS:C1537862, + HGNC:31604, + HGNC_symbol:MIR224 ; biolink:category biolink:Gene . OMIM:300771 a owl:Class ; rdfs:label "TCEAL7" ; IAO:0000142 PMID:15870691 ; - oboInOwl:hasDbXref UMLS:C1539945 ; oboInOwl:hasExactSynonym "TCEAL7", "transcription elongation factor a-like 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56849 ; - skos:exactMatch HGNC_symbol:TCEAL7 ; + skos:exactMatch UMLS:C1539945, + HGNC:28336, + HGNC_symbol:TCEAL7 ; biolink:category biolink:Gene . OMIM:300772 a owl:Class ; @@ -103723,7 +106280,6 @@ OMIM:300772 a owl:Class ; IAO:0000142 PMID:15083197, PMID:16418725, PMID:17062573 ; - oboInOwl:hasDbXref UMLS:C1539954 ; oboInOwl:hasExactSynonym "TFDP3", "cancer/testis antigen 30", "dp4", @@ -103732,7 +106288,9 @@ OMIM:300772 a owl:Class ; "transcription factor dp family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51270 ; - skos:exactMatch HGNC_symbol:TFDP3 ; + skos:exactMatch UMLS:C1539954, + HGNC:24603, + HGNC_symbol:TFDP3 ; biolink:category biolink:Gene . OMIM:300773 a owl:Class ; @@ -103742,7 +106300,6 @@ OMIM:300773 a owl:Class ; PMID:12573260, PMID:15319281, PMID:16687656 ; - oboInOwl:hasDbXref UMLS:C1425157 ; oboInOwl:hasExactSynonym "APEX2", "ape2", "apex nuclease (apurinic/apyrimidinic endonuclease) 2", @@ -103751,7 +106308,9 @@ OMIM:300773 a owl:Class ; "xth2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27301 ; - skos:exactMatch HGNC_symbol:APEX2 ; + skos:exactMatch UMLS:C1425157, + HGNC:17889, + HGNC_symbol:APEX2 ; biolink:category biolink:Gene . OMIM:300774 a owl:Class ; @@ -103767,13 +106326,14 @@ OMIM:300774 a owl:Class ; PMID:4025396 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:311510 ; - oboInOwl:hasDbXref UMLS:C1424331 ; oboInOwl:hasExactSynonym "RAB39B", "rab39b, member ras oncogene family", "ras-associated protein rab39b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116442 ; - skos:exactMatch HGNC_symbol:RAB39B ; + skos:exactMatch UMLS:C1424331, + HGNC:16499, + HGNC_symbol:RAB39B ; biolink:category biolink:Gene . OMIM:300775 a owl:Class ; @@ -103784,14 +106344,15 @@ OMIM:300775 a owl:Class ; PMID:9524226 ; RO:0002525 CHR:9606chrXq26.1 ; RO:0003303 OMIM:301074 ; - oboInOwl:hasDbXref UMLS:C1414377 ; oboInOwl:hasExactSynonym "ELF4", "e74-like ets transcription factor 4", "e74-like factor 4", "myeloid elf1-like factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2000 ; - skos:exactMatch HGNC_symbol:ELF4 ; + skos:exactMatch UMLS:C1414377, + HGNC:3319, + HGNC_symbol:ELF4 ; biolink:category biolink:Gene . OMIM:300776 a owl:Class ; @@ -103810,10 +106371,6 @@ OMIM:300776 a owl:Class ; PMID:32681751 ; RO:0002525 CHR:9606chrXq23 ; RO:0003303 OMIM:300884 ; - oboInOwl:hasDbXref UMLS:C1823172, - UMLS:C2986382, - UMLS:C3550904, - UMLS:C4317295 ; oboInOwl:hasExactSynonym "ALG13", "alg13 udp-n-acetylglucosaminyltransferase subunit", "alg13, s. cerevisiae, homolog of", @@ -103821,7 +106378,12 @@ OMIM:300776 a owl:Class ; "glycosyltransferase 28 domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79868 ; - skos:exactMatch HGNC_symbol:ALG13 ; + skos:exactMatch UMLS:C1823172, + UMLS:C2986382, + UMLS:C3550904, + UMLS:C4317295, + HGNC:30881, + HGNC_symbol:ALG13 ; biolink:category biolink:Gene . OMIM:300777 a owl:Class ; @@ -103834,158 +106396,170 @@ OMIM:300777 a owl:Class ; PMID:25943046 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300872 ; - oboInOwl:hasDbXref UMLS:C1425437 ; oboInOwl:hasExactSynonym "TMLHE", "butyrobetaine-gamma,2-oxoglutarate dioxygenase 2", "epsilon-trimethyllysine hydroxylase", "tmlh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55217 ; - skos:exactMatch HGNC_symbol:TMLHE ; + skos:exactMatch UMLS:C1425437, + HGNC:18308, + HGNC_symbol:TMLHE ; biolink:category biolink:Gene . OMIM:300780 a owl:Class ; rdfs:label "CT47A1" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681378 ; oboInOwl:hasExactSynonym "CT47A1", "cancer/testis antigen family 47, member a1", "ct47.1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728096 ; - skos:exactMatch HGNC_symbol:CT47A1 ; + skos:exactMatch UMLS:C2681378, + HGNC:33282, + HGNC_symbol:CT47A1 ; biolink:category biolink:Gene . OMIM:300781 a owl:Class ; rdfs:label "CT47A2" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681379 ; oboInOwl:hasExactSynonym "CT47A2", "cancer/testis antigen family 47, member a2", "ct47.2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728090 ; - skos:exactMatch HGNC_symbol:CT47A2 ; + skos:exactMatch UMLS:C2681379, + HGNC:33283, + HGNC_symbol:CT47A2 ; biolink:category biolink:Gene . OMIM:300782 a owl:Class ; rdfs:label "CT47A3" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681380 ; oboInOwl:hasExactSynonym "CT47A3", "cancer/testis antigen family 47, member a3", "ct47.3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728082 ; - skos:exactMatch HGNC_symbol:CT47A3 ; + skos:exactMatch UMLS:C2681380, + HGNC:33284, + HGNC_symbol:CT47A3 ; biolink:category biolink:Gene . OMIM:300783 a owl:Class ; rdfs:label "CT47A4" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681381 ; oboInOwl:hasExactSynonym "CT47A4", "cancer/testis antigen family 47, member a4", "ct47.4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728075 ; - skos:exactMatch HGNC_symbol:CT47A4 ; + skos:exactMatch UMLS:C2681381, + HGNC:33285, + HGNC_symbol:CT47A4 ; biolink:category biolink:Gene . OMIM:300784 a owl:Class ; rdfs:label "CT47A5" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681382 ; oboInOwl:hasExactSynonym "CT47A5", "cancer/testis antigen family 47, member a5", "ct47.5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728072 ; - skos:exactMatch HGNC_symbol:CT47A5 ; + skos:exactMatch UMLS:C2681382, + HGNC:33286, + HGNC_symbol:CT47A5 ; biolink:category biolink:Gene . OMIM:300785 a owl:Class ; rdfs:label "CT47A6" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681383 ; oboInOwl:hasExactSynonym "CT47A6", "cancer/testis antigen family 47, member a6", "ct47.6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728062 ; - skos:exactMatch HGNC_symbol:CT47A6 ; + skos:exactMatch UMLS:C2681383, + HGNC:33287, + HGNC_symbol:CT47A6 ; biolink:category biolink:Gene . OMIM:300786 a owl:Class ; rdfs:label "CT47A7" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681384 ; oboInOwl:hasExactSynonym "CT47A7", "cancer/testis antigen family 47, member a7", "ct47.7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653282 ; - skos:exactMatch HGNC_symbol:CT47A7 ; + skos:exactMatch UMLS:C2681384, + HGNC:33288, + HGNC_symbol:CT47A7 ; biolink:category biolink:Gene . OMIM:300787 a owl:Class ; rdfs:label "CT47A8" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681385 ; oboInOwl:hasExactSynonym "CT47A8", "cancer/testis antigen family 47, member a8", "ct47.8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728049 ; - skos:exactMatch HGNC_symbol:CT47A8 ; + skos:exactMatch UMLS:C2681385, + HGNC:33289, + HGNC_symbol:CT47A8 ; biolink:category biolink:Gene . OMIM:300788 a owl:Class ; rdfs:label "CT47A9" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681386 ; oboInOwl:hasExactSynonym "CT47A9", "cancer/testis antigen family 47, member a9", "ct47.9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728042 ; - skos:exactMatch HGNC_symbol:CT47A9 ; + skos:exactMatch UMLS:C2681386, + HGNC:33290, + HGNC_symbol:CT47A9 ; biolink:category biolink:Gene . OMIM:300789 a owl:Class ; rdfs:label "CT47A10" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681387 ; oboInOwl:hasExactSynonym "CT47A10", "cancer/testis antigen family 47, member a10", "ct47.10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728036 ; - skos:exactMatch HGNC_symbol:CT47A10 ; + skos:exactMatch UMLS:C2681387, + HGNC:33291, + HGNC_symbol:CT47A10 ; biolink:category biolink:Gene . OMIM:300790 a owl:Class ; rdfs:label "CT47B1" ; IAO:0000142 PMID:12477932, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2681388 ; oboInOwl:hasExactSynonym "CT47B1", "cancer/testis antigen family 47, member b1", "ct47.13", "ct47a13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643311 ; - skos:exactMatch HGNC_symbol:CT47B1 ; + skos:exactMatch UMLS:C2681388, + HGNC:33293, + HGNC_symbol:CT47B1 ; biolink:category biolink:Gene . OMIM:300791 a owl:Class ; @@ -103993,13 +106567,14 @@ OMIM:300791 a owl:Class ; IAO:0000142 PMID:10559491, PMID:10801798, PMID:21715335 ; - oboInOwl:hasDbXref UMLS:C1538486 ; oboInOwl:hasExactSynonym "NRK", "nik-like embryo-specific kinase", "nik-related kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203447 ; - skos:exactMatch HGNC_symbol:NRK ; + skos:exactMatch UMLS:C1538486, + HGNC:25391, + HGNC_symbol:NRK ; biolink:category biolink:Gene . OMIM:300792 a owl:Class ; @@ -104007,72 +106582,77 @@ OMIM:300792 a owl:Class ; IAO:0000142 PMID:17589498, PMID:18212054, PMID:19307576 ; - oboInOwl:hasDbXref UMLS:C1537763 ; oboInOwl:hasExactSynonym "MIR106A", "micro RNA 106a", "mirn106a", "mirna106a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406899 ; - skos:exactMatch HGNC_symbol:MIR106A ; + skos:exactMatch UMLS:C1537763, + HGNC:31494, + HGNC_symbol:MIR106A ; biolink:category biolink:Gene . OMIM:300793 a owl:Class ; rdfs:label "CT45A2" ; IAO:0000142 PMID:15905330 ; - oboInOwl:hasDbXref UMLS:C2681372 ; oboInOwl:hasExactSynonym "CT45A2", "cancer/testis antigen 45, member 2", "cancer/testis antigen family 45, member a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728911 ; - skos:exactMatch HGNC_symbol:CT45A2 ; + skos:exactMatch UMLS:C2681372, + HGNC:28400, + HGNC_symbol:CT45A2 ; biolink:category biolink:Gene . OMIM:300794 a owl:Class ; rdfs:label "CT45A3" ; IAO:0000142 PMID:15905330 ; - oboInOwl:hasDbXref UMLS:C2681373 ; oboInOwl:hasExactSynonym "CT45A3", "cancer/testis antigen 45, member 3", "cancer/testis antigen family 45, member a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441519 ; - skos:exactMatch HGNC_symbol:CT45A3 ; + skos:exactMatch UMLS:C2681373, + HGNC:33268, + HGNC_symbol:CT45A3 ; biolink:category biolink:Gene . OMIM:300795 a owl:Class ; rdfs:label "CT45A4" ; IAO:0000142 PMID:15905330 ; - oboInOwl:hasDbXref UMLS:C2681374 ; oboInOwl:hasExactSynonym "CT45A4", "cancer/testis antigen 45, member 4", "cancer/testis antigen family 45, member a4" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C2681374 ; biolink:category biolink:Gene . OMIM:300796 a owl:Class ; rdfs:label "CT45A5" ; IAO:0000142 PMID:15905330 ; - oboInOwl:hasDbXref UMLS:C2681375 ; oboInOwl:hasExactSynonym "CT45A5", "cancer/testis antigen 45, member 5", "cancer/testis antigen family 45, member a5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441521 ; - skos:exactMatch HGNC_symbol:CT45A5 ; + skos:exactMatch UMLS:C2681375, + HGNC:33270, + HGNC_symbol:CT45A5 ; biolink:category biolink:Gene . OMIM:300797 a owl:Class ; rdfs:label "CT45A6" ; IAO:0000142 PMID:15905330 ; - oboInOwl:hasDbXref UMLS:C2681376 ; oboInOwl:hasExactSynonym "CT45A6", "cancer/testis antigen 45, member 6", "cancer/testis antigen family 45, member a6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:541465 ; - skos:exactMatch HGNC_symbol:CT45A6 ; + skos:exactMatch UMLS:C2681376, + HGNC:33271, + HGNC_symbol:CT45A6 ; biolink:category biolink:Gene . OMIM:300798 a owl:Class ; @@ -104100,12 +106680,13 @@ OMIM:300798 a owl:Class ; PMID:9835437 ; RO:0002525 CHR:9606chrXp22.13 ; RO:0003303 OMIM:306000 ; - oboInOwl:hasDbXref UMLS:C1418533 ; oboInOwl:hasExactSynonym "PHKA2", "phosphorylase kinase, liver, alpha-2 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5256 ; - skos:exactMatch HGNC_symbol:PHKA2 ; + skos:exactMatch UMLS:C1418533, + HGNC:8926, + HGNC_symbol:PHKA2 ; biolink:category biolink:Gene . OMIM:300800 a owl:Class ; @@ -104116,8 +106697,8 @@ OMIM:300801 a owl:Class ; rdfs:label "chromosome xp11.23-p11.22 duplication syndrome" ; IAO:0000142 PMID:19716111 ; RO:0002525 CHR:9606chrXp11.23-p11.22 ; - oboInOwl:hasDbXref UMLS:C2749022 ; oboInOwl:hasExactSynonym "chromosome xp11.23-p11.22 duplication syndrome" ; + skos:exactMatch UMLS:C2749022 ; biolink:category biolink:Disease . OMIM:300804 a owl:Class ; @@ -104125,23 +106706,24 @@ OMIM:300804 a owl:Class ; IAO:0000142 PMID:19800048, PMID:22353940, PMID:26092869 ; - oboInOwl:hasDbXref UMLS:C2749019 ; oboInOwl:hasExactSynonym "JBTS10", "joubert syndrome 10" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C2749019 ; biolink:category biolink:Disease . OMIM:300805 a owl:Class ; rdfs:label "FMR1AS1" ; IAO:0000142 PMID:17921506 ; - oboInOwl:hasDbXref UMLS:C2749018 ; oboInOwl:hasExactSynonym "FMR1AS1", "antisense fmr1 gene", "fmr1 antisense RNA 1", "fmr1 gene, antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126270 ; - skos:exactMatch HGNC_symbol:FMR1-AS1 ; + skos:exactMatch UMLS:C2749018, + HGNC:39081, + HGNC_symbol:FMR1-AS1 ; biolink:category biolink:Gene . OMIM:300806 a owl:Class ; @@ -104160,15 +106742,16 @@ OMIM:300806 a owl:Class ; PMID:9299237 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:309548 ; - oboInOwl:hasDbXref UMLS:C1414810, - UMLS:C1826605 ; oboInOwl:hasExactSynonym "AFF2", "af4/fmr2 family, member 2", "fmr2 gene", "fragile site, folic acid type, rare, fra(x)(q28) e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2334 ; - skos:exactMatch HGNC_symbol:AFF2 ; + skos:exactMatch UMLS:C1414810, + UMLS:C1826605, + HGNC:3776, + HGNC_symbol:AFF2 ; biolink:category biolink:Gene . OMIM:300807 a owl:Class ; @@ -104179,11 +106762,11 @@ OMIM:300807 a owl:Class ; PMID:19286883, PMID:19846852, PMID:9575152 ; - oboInOwl:hasDbXref UMLS:C2749016 ; oboInOwl:hasExactSynonym "THPH8", "deep venous thrombosis, protection against", "thrombophilia, x-linked, due to factor 9 defect" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C2749016 ; biolink:category biolink:Disease . OMIM:300808 a owl:Class ; @@ -104213,53 +106796,57 @@ OMIM:300808 a owl:Class ; PMID:9887374 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:300500 ; - oboInOwl:hasDbXref UMLS:C1426729 ; oboInOwl:hasExactSynonym "GPR143", "g protein-coupled receptor 143", "oa1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4935 ; - skos:exactMatch HGNC_symbol:GPR143 ; + skos:exactMatch UMLS:C1426729, + HGNC:20145, + HGNC_symbol:GPR143 ; biolink:category biolink:Gene . OMIM:300810 a owl:Class ; rdfs:label "MIR98" ; IAO:0000142 PMID:11914277, PMID:19592657 ; - oboInOwl:hasDbXref UMLS:C1537753 ; oboInOwl:hasExactSynonym "MIR98", "micro RNA 98", "mirn98", "mirna98" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407054 ; - skos:exactMatch HGNC_symbol:MIR98 ; + skos:exactMatch UMLS:C1537753, + HGNC:31649, + HGNC_symbol:MIR98 ; biolink:category biolink:Gene . OMIM:300811 a owl:Class ; rdfs:label "MIR105-1" ; IAO:0000142 PMID:11914277 ; - oboInOwl:hasDbXref UMLS:C1537761 ; oboInOwl:hasExactSynonym "MIR105-1", "micro RNA 105-1", "mirn105-1", "mirna105-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406897 ; - skos:exactMatch HGNC_symbol:MIR105-1 ; + skos:exactMatch UMLS:C1537761, + HGNC:31492, + HGNC_symbol:MIR105-1 ; biolink:category biolink:Gene . OMIM:300812 a owl:Class ; rdfs:label "MIR105-2" ; IAO:0000142 PMID:11914277 ; - oboInOwl:hasDbXref UMLS:C1537762 ; oboInOwl:hasExactSynonym "MIR105-2", "micro RNA 105-2", "mirn105-2", "mirna105-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406898 ; - skos:exactMatch HGNC_symbol:MIR105-2 ; + skos:exactMatch UMLS:C1537762, + HGNC:31493, + HGNC_symbol:MIR105-2 ; biolink:category biolink:Gene . OMIM:300814 a owl:Class ; @@ -104269,10 +106856,10 @@ OMIM:300814 a owl:Class ; PMID:18087240, PMID:18523664, PMID:19390656 ; - oboInOwl:hasDbXref UMLS:C3151752 ; oboInOwl:hasExactSynonym "NYS6", "nystagmus 6, congenital, X-linked" ; rdfs:subClassOf OMIMPS:310700 ; + skos:exactMatch UMLS:C3151752 ; biolink:category biolink:Disease . OMIM:300815 a owl:Class ; @@ -104283,8 +106870,8 @@ OMIM:300815 a owl:Class ; PMID:21984752, PMID:24357492 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C2749007 ; oboInOwl:hasExactSynonym "chromosome xq28 duplication syndrome" ; + skos:exactMatch UMLS:C2749007 ; biolink:category biolink:Disease . OMIM:300816 a owl:Class ; @@ -104293,11 +106880,11 @@ OMIM:300816 a owl:Class ; PMID:22019070, PMID:25583628, PMID:26173962 ; - oboInOwl:hasDbXref UMLS:C3151753 ; oboInOwl:hasExactSynonym "COXPD6", "combined oxidative phosphorylation deficiency 6", "encephalomyopathy, mitochondrial, X-linked" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3151753 ; biolink:category biolink:Disease . OMIM:300817 a owl:Class ; @@ -104305,36 +106892,39 @@ OMIM:300817 a owl:Class ; IAO:0000142 PMID:16112844, PMID:17164267, PMID:17948898 ; - oboInOwl:hasDbXref UMLS:C1539334 ; oboInOwl:hasExactSynonym "EFHC2", "ef-hand domain (c-terminal)-containing protein 2", "ef-hand domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80258 ; - skos:exactMatch HGNC_symbol:EFHC2 ; + skos:exactMatch UMLS:C1539334, + HGNC:26233, + HGNC_symbol:EFHC2 ; biolink:category biolink:Gene . OMIM:300819 a owl:Class ; rdfs:label "ZNF630" ; IAO:0000142 PMID:20186789 ; - oboInOwl:hasDbXref UMLS:C1538209 ; oboInOwl:hasExactSynonym "ZNF630", "zinc finger protein 630" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57232 ; - skos:exactMatch HGNC_symbol:ZNF630 ; + skos:exactMatch UMLS:C1538209, + HGNC:28855, + HGNC_symbol:ZNF630 ; biolink:category biolink:Gene . OMIM:300820 a owl:Class ; rdfs:label "MAP3K15" ; IAO:0000142 PMID:20362554 ; - oboInOwl:hasDbXref UMLS:C1537649 ; oboInOwl:hasExactSynonym "MAP3K15", "apoptosis signal-regulating kinase 3", "mitogen-activated protein kinase kinase kinase 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389840 ; - skos:exactMatch HGNC_symbol:MAP3K15 ; + skos:exactMatch UMLS:C1537649, + HGNC:31689, + HGNC_symbol:MAP3K15 ; biolink:category biolink:Gene . OMIM:300821 a owl:Class ; @@ -104358,13 +106948,14 @@ OMIM:300821 a owl:Class ; PMID:8768862 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:303800 ; - oboInOwl:hasDbXref UMLS:C1415024 ; oboInOwl:hasExactSynonym "OPN1MW", "green cone pigment", "opsin 1, medium-wave-sensitive" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2652 ; - skos:exactMatch HGNC_symbol:OPN1MW ; + skos:exactMatch UMLS:C1415024, + HGNC:4206, + HGNC_symbol:OPN1MW ; biolink:category biolink:Gene . OMIM:300822 a owl:Class ; @@ -104383,13 +106974,14 @@ OMIM:300822 a owl:Class ; PMID:8792812 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:303900 ; - oboInOwl:hasDbXref UMLS:C1419325 ; oboInOwl:hasExactSynonym "OPN1LW", "opsin 1, long-wave-sensitive", "red cone pigment" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5956 ; - skos:exactMatch HGNC_symbol:OPN1LW ; + skos:exactMatch UMLS:C1419325, + HGNC:9936, + HGNC_symbol:OPN1LW ; biolink:category biolink:Gene . OMIM:300823 a owl:Class ; @@ -104426,12 +107018,13 @@ OMIM:300823 a owl:Class ; PMID:9501270 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:309900 ; - oboInOwl:hasDbXref UMLS:C1415882 ; oboInOwl:hasExactSynonym "IDS", "iduronate 2-sulfatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3423 ; - skos:exactMatch HGNC_symbol:IDS ; + skos:exactMatch UMLS:C1415882, + HGNC:5389, + HGNC_symbol:IDS ; biolink:category biolink:Gene . OMIM:300824 a owl:Class ; @@ -104444,13 +107037,13 @@ OMIM:300824 a owl:Class ; PMID:2788922, PMID:8213841, PMID:9215665 ; - oboInOwl:hasDbXref UMLS:C3151780 ; oboInOwl:hasExactSynonym "locus control region, red and green photopigment genes", "opn1lw and opn1mw genes, controller of", "opsin locus control region", "red and green pigment genes, controller of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:107604627 ; + skos:exactMatch UMLS:C3151780 ; biolink:category biolink:Gene . OMIM:300828 a owl:Class ; @@ -104461,46 +107054,48 @@ OMIM:300828 a owl:Class ; PMID:27007844 ; RO:0002525 CHR:9606chrXp22.11 ; RO:0003303 OMIM:300830 ; - oboInOwl:hasDbXref UMLS:C1538745 ; oboInOwl:hasExactSynonym "PTCHD1", "patched domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139411 ; - skos:exactMatch HGNC_symbol:PTCHD1 ; + skos:exactMatch UMLS:C1538745, + HGNC:26392, + HGNC_symbol:PTCHD1 ; biolink:category biolink:Gene . OMIM:300832 a owl:Class ; rdfs:label "JPX" ; IAO:0000142 PMID:12906856, PMID:21029862 ; - oboInOwl:hasDbXref UMLS:C3147679 ; oboInOwl:hasExactSynonym "JPX", "enox", "just proximal to xist", "noncoding RNA 183" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:554203 ; - skos:exactMatch HGNC_symbol:JPX ; + skos:exactMatch UMLS:C3147679, + HGNC:37191, + HGNC_symbol:JPX ; biolink:category biolink:Gene . OMIM:300833 a owl:Class ; rdfs:label "46,xx sex reversal 3" ; IAO:0000142 PMID:21183788 ; RO:0002525 CHR:9606chrXq26.3 ; - oboInOwl:hasDbXref UMLS:C3151782, - UMLS:C3151783 ; oboInOwl:hasExactSynonym "46,xx sex reversal 3", "46,xx sex reversal, sox3-related", "SRXX3", "chromosome xq26 deletion syndrome", "chromosome xq26 duplication syndrome" ; + skos:exactMatch UMLS:C3151782, + UMLS:C3151783 ; biolink:category biolink:Disease . OMIM:300834 a owl:Class ; rdfs:label "macular degeneration, X-linked atrophic" ; IAO:0000142 PMID:12160730 ; - oboInOwl:hasDbXref UMLS:C3151784 ; oboInOwl:hasExactSynonym "macular degeneration, X-linked atrophic" ; + skos:exactMatch UMLS:C3151784 ; biolink:category biolink:Disease . OMIM:300835 a owl:Class ; @@ -104512,10 +107107,10 @@ OMIM:300835 a owl:Class ; PMID:24453067, PMID:24766296, PMID:24952648 ; - oboInOwl:hasDbXref UMLS:C3550856, - ORPHA:363727 ; oboInOwl:hasExactSynonym "XLANP", "anemia, x-linked, with or without neutropenia and/or platelet abnormalities" ; + skos:exactMatch UMLS:C3550856, + ORPHA:363727 ; biolink:category biolink:Disease . OMIM:300836 a owl:Class ; @@ -104549,8 +107144,6 @@ OMIM:300836 a owl:Class ; PMID:9713559 ; RO:0002525 CHR:9606chrXp22.31 ; RO:0003303 OMIM:308700 ; - oboInOwl:hasDbXref UMLS:C1416536, - UMLS:C4016502 ; oboInOwl:hasExactSynonym "ANOS1", "adhesion molecule-like, X-linked", "anosmin 1", @@ -104558,18 +107151,22 @@ OMIM:300836 a owl:Class ; "kallmann syndrome interval gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3730 ; - skos:exactMatch HGNC_symbol:ANOS1 ; + skos:exactMatch UMLS:C1416536, + UMLS:C4016502, + HGNC:6211, + HGNC_symbol:ANOS1 ; biolink:category biolink:Gene . OMIM:300837 a owl:Class ; rdfs:label "DGKK" ; IAO:0000142 PMID:16210324 ; - oboInOwl:hasDbXref UMLS:C1824929 ; oboInOwl:hasExactSynonym "DGKK", "diacylglycerol kinase, kappa, 142-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139189 ; - skos:exactMatch HGNC_symbol:DGKK ; + skos:exactMatch UMLS:C1824929, + HGNC:32395, + HGNC_symbol:DGKK ; biolink:category biolink:Gene . OMIM:300838 a owl:Class ; @@ -104580,14 +107177,15 @@ OMIM:300838 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:300983 ; - oboInOwl:hasDbXref UMLS:C1825317 ; oboInOwl:hasExactSynonym "FRMPD4", "ferm and pdz domains-containing protein 4", "kiaa0316", "psd95-interacting regulator of spine morphogenesis" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9758 ; - skos:exactMatch HGNC_symbol:FRMPD4 ; + skos:exactMatch UMLS:C1825317, + HGNC:29007, + HGNC_symbol:FRMPD4 ; biolink:category biolink:Gene . OMIM:300839 a owl:Class ; @@ -104608,12 +107206,13 @@ OMIM:300839 a owl:Class ; PMID:9618178 ; RO:0002525 CHR:9606chrXp22.13 ; RO:0003303 OMIM:312700 ; - oboInOwl:hasDbXref UMLS:C1419764 ; oboInOwl:hasExactSynonym "RS1", "retinoschisin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6247 ; - skos:exactMatch HGNC_symbol:RS1 ; + skos:exactMatch UMLS:C1419764, + HGNC:10457, + HGNC_symbol:RS1 ; biolink:category biolink:Gene . OMIM:300840 a owl:Class ; @@ -104623,13 +107222,14 @@ OMIM:300840 a owl:Class ; PMID:17975142, PMID:18395978, PMID:20412121 ; - oboInOwl:hasDbXref UMLS:C1538713 ; oboInOwl:hasExactSynonym "PRAF2", "jm4", "pra1 domain family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11230 ; - skos:exactMatch HGNC_symbol:PRAF2 ; + skos:exactMatch UMLS:C1538713, + HGNC:28911, + HGNC_symbol:PRAF2 ; biolink:category biolink:Gene . OMIM:300841 a owl:Class ; @@ -104774,14 +107374,15 @@ OMIM:300841 a owl:Class ; PMID:9042915 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:301071 ; - oboInOwl:hasDbXref UMLS:C1366370 ; oboInOwl:hasExactSynonym "F8", "coagulation factor 8", "coagulation factor viiic, procoagulant component", "factor 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2157 ; - skos:exactMatch HGNC_symbol:F8 ; + skos:exactMatch UMLS:C1366370, + HGNC:3546, + HGNC_symbol:F8 ; biolink:category biolink:Gene . OMIM:300845 a owl:Class ; @@ -104789,12 +107390,12 @@ OMIM:300845 a owl:Class ; IAO:0000142 PMID:20644152, PMID:21596366 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C3151857 ; oboInOwl:hasExactSynonym "MYMY4", "chromosome xq28 deletion syndrome, 3.4-kb", "moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism", "syndromic moyamoya disease" ; rdfs:subClassOf OMIMPS:252350 ; + skos:exactMatch UMLS:C3151857 ; biolink:category biolink:Disease . OMIM:300846 a owl:Class ; @@ -104802,13 +107403,14 @@ OMIM:300846 a owl:Class ; IAO:0000142 PMID:12706889, PMID:20479283, PMID:9828128 ; - oboInOwl:hasDbXref UMLS:C1425388 ; oboInOwl:hasExactSynonym "CD99L2", "cd99 antigen-like 2", "cd99b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83692 ; - skos:exactMatch HGNC_symbol:CD99L2 ; + skos:exactMatch UMLS:C1425388, + HGNC:18237, + HGNC_symbol:CD99L2 ; biolink:category biolink:Gene . OMIM:300848 a owl:Class ; @@ -104816,10 +107418,10 @@ OMIM:300848 a owl:Class ; IAO:0000142 PMID:14628291, PMID:23871722 ; RO:0002525 CHR:9606chrXp11.3 ; - oboInOwl:hasDbXref UMLS:C1839082 ; oboInOwl:hasExactSynonym "MRX89", "mental retardation, X-linked 89" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1839082 ; biolink:category biolink:Disease . OMIM:300859 a owl:Class ; @@ -104831,13 +107433,14 @@ OMIM:300859 a owl:Class ; PMID:31537807 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300963 ; - oboInOwl:hasDbXref UMLS:C1824547, - UMLS:C4225419 ; oboInOwl:hasExactSynonym "CCDC22", "coiled-coil domain-containing protein 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28952 ; - skos:exactMatch HGNC_symbol:CCDC22 ; + skos:exactMatch UMLS:C1824547, + UMLS:C4225419, + HGNC:28909, + HGNC_symbol:CCDC22 ; biolink:category biolink:Gene . OMIM:300862 a owl:Class ; @@ -104845,37 +107448,40 @@ OMIM:300862 a owl:Class ; IAO:0000142 PMID:10383425, PMID:16103133, PMID:16940157 ; - oboInOwl:hasDbXref UMLS:C1825833 ; oboInOwl:hasExactSynonym "ACOT9", "acyl-coa thioesterase 9", "mitochondrial acyl-coa thioesterase, 48-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23597 ; - skos:exactMatch HGNC_symbol:ACOT9 ; + skos:exactMatch UMLS:C1825833, + HGNC:17152, + HGNC_symbol:ACOT9 ; biolink:category biolink:Gene . OMIM:300865 a owl:Class ; rdfs:label "MIR503" ; IAO:0000142 PMID:21220732 ; - oboInOwl:hasDbXref UMLS:C1826057 ; oboInOwl:hasExactSynonym "MIR503", "micro RNA 503", "mirna503" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574506 ; - skos:exactMatch HGNC_symbol:MIR503 ; + skos:exactMatch UMLS:C1826057, + HGNC:32138, + HGNC_symbol:MIR503 ; biolink:category biolink:Gene . OMIM:300866 a owl:Class ; rdfs:label "MIR510" ; IAO:0000142 PMID:18614545 ; - oboInOwl:hasDbXref UMLS:C1826064 ; oboInOwl:hasExactSynonym "MIR510", "micro RNA 510", "mirna510" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574515 ; - skos:exactMatch HGNC_symbol:MIR510 ; + skos:exactMatch UMLS:C1826064, + HGNC:32147, + HGNC_symbol:MIR510 ; biolink:category biolink:Gene . OMIM:300868 a owl:Class ; @@ -104890,8 +107496,6 @@ OMIM:300868 a owl:Class ; PMID:26545172, PMID:8599356, PMID:9307258 ; - oboInOwl:hasDbXref UMLS:C3275508, - ORPHA:300496 ; oboInOwl:hasExactSynonym "MCAHS2", "developmental and epileptic encephalopathy 20", "epileptic encephalopathy, early infantile, 20", @@ -104899,59 +107503,63 @@ OMIM:300868 a owl:Class ; "multiple congenital anomalies-hypotonia-seizures syndrome 2" ; rdfs:subClassOf OMIMPS:308350, OMIMPS:614080 ; + skos:exactMatch UMLS:C3275508, + ORPHA:300496 ; biolink:category biolink:Disease . OMIM:300869 a owl:Class ; rdfs:label "chromosome xq27.3-q28 duplication syndrome" ; IAO:0000142 PMID:19844254 ; RO:0002525 CHR:9606chrXq27.3-q28 ; - oboInOwl:hasDbXref UMLS:C3275521 ; oboInOwl:hasExactSynonym "chromosome xq27.3-q28 duplication syndrome" ; + skos:exactMatch UMLS:C3275521 ; biolink:category biolink:Disease . OMIM:300871 a owl:Class ; rdfs:label "FUNDC1" ; IAO:0000142 PMID:22267086 ; - oboInOwl:hasDbXref UMLS:C1428741 ; oboInOwl:hasExactSynonym "FUNDC1", "fun14 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139341 ; - skos:exactMatch HGNC_symbol:FUNDC1 ; + skos:exactMatch UMLS:C1428741, + HGNC:28746, + HGNC_symbol:FUNDC1 ; biolink:category biolink:Gene . OMIM:300873 a owl:Class ; rdfs:label "GNL3L" ; IAO:0000142 PMID:16251348, PMID:21132010 ; - oboInOwl:hasDbXref UMLS:C1539589 ; oboInOwl:hasExactSynonym "GNL3L", "gnl3-like protein", "guanine nucleotide-binding protein-like 3-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54552 ; - skos:exactMatch HGNC_symbol:GNL3L ; + skos:exactMatch UMLS:C1539589, + HGNC:25553, + HGNC_symbol:GNL3L ; biolink:category biolink:Gene . OMIM:300874 a owl:Class ; rdfs:label "MIR508" ; IAO:0000142 PMID:16381832, PMID:22369946 ; - oboInOwl:hasDbXref UMLS:C1826062 ; oboInOwl:hasExactSynonym "MIR508", "micro RNA 508", "mirn508", "mirna508" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574513 ; - skos:exactMatch HGNC_symbol:MIR508 ; + skos:exactMatch UMLS:C1826062, + HGNC:32145, + HGNC_symbol:MIR508 ; biolink:category biolink:Gene . OMIM:300875 a owl:Class ; rdfs:label "MIR509-1" ; IAO:0000142 PMID:16381832, PMID:22369946 ; - oboInOwl:hasDbXref UMLS:C1826063 ; oboInOwl:hasExactSynonym "MIR509-1", "micro RNA 509", "micro RNA 509-1", @@ -104959,44 +107567,49 @@ OMIM:300875 a owl:Class ; "mirna509-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574514 ; - skos:exactMatch HGNC_symbol:MIR509-1 ; + skos:exactMatch UMLS:C1826063, + HGNC:32146, + HGNC_symbol:MIR509-1 ; biolink:category biolink:Gene . OMIM:300876 a owl:Class ; rdfs:label "MIR509-3" ; IAO:0000142 PMID:22369946 ; - oboInOwl:hasDbXref UMLS:C2239699 ; oboInOwl:hasExactSynonym "MIR509-3", "micro RNA 509-3", "mirn509-3", "mirna509-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126337 ; - skos:exactMatch HGNC_symbol:MIR509-3 ; + skos:exactMatch UMLS:C2239699, + HGNC:33675, + HGNC_symbol:MIR509-3 ; biolink:category biolink:Gene . OMIM:300877 a owl:Class ; rdfs:label "MIR506" ; IAO:0000142 PMID:22369946 ; - oboInOwl:hasDbXref UMLS:C1826060 ; oboInOwl:hasExactSynonym "MIR506", "micro RNA 506", "mirn506", "mirna506" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574511 ; - skos:exactMatch HGNC_symbol:MIR506 ; + skos:exactMatch UMLS:C1826060, + HGNC:32143, + HGNC_symbol:MIR506 ; biolink:category biolink:Gene . OMIM:300878 a owl:Class ; rdfs:label "DMRTC1" ; IAO:0000142 PMID:11863363 ; - oboInOwl:hasDbXref UMLS:C1422264 ; oboInOwl:hasExactSynonym "DMRTC1", "doublesex- and mab3-related transcription factor c1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63947 ; - skos:exactMatch HGNC_symbol:DMRTC1 ; + skos:exactMatch UMLS:C1422264, + HGNC:13910, + HGNC_symbol:DMRTC1 ; biolink:category biolink:Gene . OMIM:300879 a owl:Class ; @@ -105011,13 +107624,14 @@ OMIM:300879 a owl:Class ; PMID:3502698, PMID:7533029, PMID:7633446 ; - oboInOwl:hasDbXref UMLS:C1421532 ; oboInOwl:hasExactSynonym "XG", "pbdx", "xg glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7499 ; - skos:exactMatch HGNC_symbol:XG ; + skos:exactMatch UMLS:C1421532, + HGNC:12806, + HGNC_symbol:XG ; biolink:category biolink:Gene . OMIM:300881 a owl:Class ; @@ -105027,72 +107641,78 @@ OMIM:300881 a owl:Class ; OMIM:300883 a owl:Class ; rdfs:label "SNX12" ; IAO:0000142 PMID:11485546 ; - oboInOwl:hasDbXref UMLS:C1423103 ; oboInOwl:hasExactSynonym "SNX12", "sorting nexin 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29934 ; - skos:exactMatch HGNC_symbol:SNX12 ; + skos:exactMatch UMLS:C1423103, + HGNC:14976, + HGNC_symbol:SNX12 ; biolink:category biolink:Gene . OMIM:300889 a owl:Class ; rdfs:label "ZC3H12B" ; IAO:0000142 PMID:18178554 ; - oboInOwl:hasDbXref UMLS:C1823925 ; oboInOwl:hasExactSynonym "ZC3H12B", "mcp1-induced protein 2", "zinc finger ccch domain-containing protein 12b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340554 ; - skos:exactMatch HGNC_symbol:ZC3H12B ; + skos:exactMatch UMLS:C1823925, + HGNC:17407, + HGNC_symbol:ZC3H12B ; biolink:category biolink:Gene . OMIM:300890 a owl:Class ; rdfs:label "ASB9" ; IAO:0000142 PMID:11509662, PMID:12076535 ; - oboInOwl:hasDbXref UMLS:C1424805 ; oboInOwl:hasExactSynonym "ASB9", "ankyrin repeat- and socs box-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140462 ; - skos:exactMatch HGNC_symbol:ASB9 ; + skos:exactMatch UMLS:C1424805, + HGNC:17184, + HGNC_symbol:ASB9 ; biolink:category biolink:Gene . OMIM:300891 a owl:Class ; rdfs:label "ASB12" ; IAO:0000142 PMID:12076535, PMID:16325183 ; - oboInOwl:hasDbXref UMLS:C1426392 ; oboInOwl:hasExactSynonym "ASB12", "ankyrin repeat- and socs box-containing protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142689 ; - skos:exactMatch HGNC_symbol:ASB12 ; + skos:exactMatch UMLS:C1426392, + HGNC:19763, + HGNC_symbol:ASB12 ; biolink:category biolink:Gene . OMIM:300892 a owl:Class ; rdfs:label "LINC00850" ; IAO:0000142 PMID:23223008 ; - oboInOwl:hasDbXref UMLS:C3539349 ; oboInOwl:hasExactSynonym "LINC00850", "kucg1", "long intergenic noncoding RNA 850" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101241891 ; - skos:exactMatch HGNC_symbol:LINC00850 ; + skos:exactMatch UMLS:C3539349, + HGNC:45092, + HGNC_symbol:LINC00850 ; biolink:category biolink:Gene . OMIM:300893 a owl:Class ; rdfs:label "MIR502" ; IAO:0000142 PMID:19789321 ; - oboInOwl:hasDbXref UMLS:C1826056 ; oboInOwl:hasExactSynonym "MIR502", "micro RNA 502", "mirna502" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574504 ; - skos:exactMatch HGNC_symbol:MIR502 ; + skos:exactMatch UMLS:C1826056, + HGNC:32136, + HGNC_symbol:MIR502 ; biolink:category biolink:Gene . OMIM:300895 a owl:Class ; @@ -105101,11 +107721,11 @@ OMIM:300895 a owl:Class ; PMID:23395478, PMID:32715471, PMID:8279489 ; - oboInOwl:hasDbXref UMLS:C3698541, - ORPHA:293707 ; oboInOwl:hasExactSynonym "OHDOX", "blepharophimosis-mental retardation syndrome, maat-kievit-brunner iia", "ohdo syndrome, X-linked" ; + skos:exactMatch UMLS:C3698541, + ORPHA:293707 ; biolink:category biolink:Disease . OMIM:300897 a owl:Class ; @@ -105122,15 +107742,16 @@ OMIM:300897 a owl:Class ; PMID:4039531 ; RO:0002525 CHR:9606chrXq11.2 ; RO:0003303 OMIM:301041 ; - oboInOwl:hasDbXref UMLS:C0796200, - UMLS:C1537464, - UMLS:C5393303 ; oboInOwl:hasExactSynonym "ZC4H2", "kiaa1166", "zinc finger c4h2 domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55906 ; - skos:exactMatch HGNC_symbol:ZC4H2 ; + skos:exactMatch UMLS:C0796200, + UMLS:C1537464, + UMLS:C5393303, + HGNC:24931, + HGNC_symbol:ZC4H2 ; biolink:category biolink:Gene . OMIM:300898 a owl:Class ; @@ -105139,7 +107760,6 @@ OMIM:300898 a owl:Class ; PMID:23446346, PMID:23446348, PMID:28798046 ; - oboInOwl:hasDbXref UMLS:C3806701 ; oboInOwl:hasExactSynonym "CDR1AS", "cdr1 antisense RNA", "cdr1 antisense transcript", @@ -105147,7 +107767,9 @@ OMIM:300898 a owl:Class ; "circular RNA sponge for mir7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:103611090 ; - skos:exactMatch HGNC_symbol:CDR1-AS ; + skos:exactMatch UMLS:C3806701, + HGNC:48926, + HGNC_symbol:CDR1-AS ; biolink:category biolink:Gene . OMIM:300900 a owl:Class ; @@ -105156,7 +107778,6 @@ OMIM:300900 a owl:Class ; OMIM:300901 a owl:Class ; rdfs:label "XACT" ; IAO:0000142 PMID:23334669 ; - oboInOwl:hasDbXref UMLS:C3542508 ; oboInOwl:hasExactSynonym "XACT", "active 10 chromosome-coating transcript, noncoding", "lincrna xact", @@ -105165,7 +107786,9 @@ OMIM:300901 a owl:Class ; "x-active-specific noncoding transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105463123 ; - skos:exactMatch HGNC_symbol:XACT ; + skos:exactMatch UMLS:C3542508, + HGNC:45056, + HGNC_symbol:XACT ; biolink:category biolink:Gene . OMIM:300902 a owl:Class ; @@ -105173,13 +107796,14 @@ OMIM:300902 a owl:Class ; IAO:0000142 PMID:11401437, PMID:14752831, PMID:3542712 ; - oboInOwl:hasDbXref UMLS:C1419682 ; oboInOwl:hasExactSynonym "RPL36A", "ribosomal protein l36a", "rpl44, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6173 ; - skos:exactMatch HGNC_symbol:RPL36A ; + skos:exactMatch UMLS:C1419682, + HGNC:10359, + HGNC_symbol:RPL36A ; biolink:category biolink:Gene . OMIM:300903 a owl:Class ; @@ -105187,22 +107811,23 @@ OMIM:300903 a owl:Class ; IAO:0000142 PMID:12044878, PMID:23178570, PMID:31875850 ; - oboInOwl:hasDbXref UMLS:C1539610 ; oboInOwl:hasExactSynonym "GPR174", "g protein-coupled receptor 174", "gpcr17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84636 ; - skos:exactMatch HGNC_symbol:GPR174 ; + skos:exactMatch UMLS:C1539610, + HGNC:30245, + HGNC_symbol:GPR174 ; biolink:category biolink:Gene . OMIM:300911 a owl:Class ; rdfs:label "parkinsonism with spasticity, X-linked" ; IAO:0000142 PMID:20629132, PMID:23595882 ; - oboInOwl:hasDbXref UMLS:C3806722 ; oboInOwl:hasExactSynonym "XPDS", "parkinsonism with spasticity, X-linked" ; + skos:exactMatch UMLS:C3806722 ; biolink:category biolink:Disease . OMIM:300913 a owl:Class ; @@ -105217,13 +107842,14 @@ OMIM:300913 a owl:Class ; PMID:25817839 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:310440 ; - oboInOwl:hasDbXref UMLS:C2681112 ; oboInOwl:hasExactSynonym "VMA21", "vacuolar atpase assembly factor vma21", "vma21, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203547 ; - skos:exactMatch HGNC_symbol:VMA21 ; + skos:exactMatch UMLS:C2681112, + HGNC:22082, + HGNC_symbol:VMA21 ; biolink:category biolink:Gene . OMIM:300916 a owl:Class ; @@ -105231,27 +107857,29 @@ OMIM:300916 a owl:Class ; IAO:0000142 PMID:11572484, PMID:16214224, PMID:19366867 ; - oboInOwl:hasDbXref UMLS:C1425752 ; oboInOwl:hasExactSynonym "PNMA5", "kiaa1934", "paraneoplastic antigen-like protein 5", "paraneoplastic ma antigen family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114824 ; - skos:exactMatch HGNC_symbol:PNMA5 ; + skos:exactMatch UMLS:C1425752, + HGNC:18743, + HGNC_symbol:PNMA5 ; biolink:category biolink:Gene . OMIM:300917 a owl:Class ; rdfs:label "PNMA6A" ; IAO:0000142 PMID:16214224 ; - oboInOwl:hasDbXref UMLS:C1538685 ; oboInOwl:hasExactSynonym "PNMA6A", "paraneoplastic antigen-like protein 6a", "paraneoplastic ma antigen family, member 6a", "pnma6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84968 ; - skos:exactMatch HGNC_symbol:PNMA6A ; + skos:exactMatch UMLS:C1538685, + HGNC:28248, + HGNC_symbol:PNMA6A ; biolink:category biolink:Gene . OMIM:300918 a owl:Class ; @@ -105260,72 +107888,76 @@ OMIM:300918 a owl:Class ; PMID:21426410, PMID:22931912, PMID:24313295 ; - oboInOwl:hasDbXref UMLS:C3806745 ; oboInOwl:hasExactSynonym "OLMSX", "olmsted syndrome, X-linked", "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked" ; rdfs:subClassOf OMIMPS:614594 ; + skos:exactMatch UMLS:C3806745 ; biolink:category biolink:Disease . OMIM:300919 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 99" ; IAO:0000142 PMID:19377476, PMID:24607389 ; - oboInOwl:hasDbXref UMLS:C3806746 ; oboInOwl:hasExactSynonym "XLID99", "intellectual developmental disorder, X-linked 99", "mental retardation, X-linked 99" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C3806746 ; biolink:category biolink:Disease . OMIM:300920 a owl:Class ; rdfs:label "ATXN3L" ; IAO:0000142 PMID:21118805 ; - oboInOwl:hasDbXref UMLS:C1538302 ; oboInOwl:hasExactSynonym "ATXN3L", "ataxin 3-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92552 ; - skos:exactMatch HGNC_symbol:ATXN3L ; + skos:exactMatch UMLS:C1538302, + HGNC:24173, + HGNC_symbol:ATXN3L ; biolink:category biolink:Gene . OMIM:300921 a owl:Class ; rdfs:label "BHLHB9" ; IAO:0000142 PMID:11214970, PMID:15034937 ; - oboInOwl:hasDbXref UMLS:C1538323 ; oboInOwl:hasExactSynonym "BHLHB9", "basic helix-loop-helix domain-containing protein, class b, 9", "kiaa1701", "p60 transcription regulator protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80823 ; - skos:exactMatch HGNC_symbol:BHLHB9 ; + skos:exactMatch UMLS:C1538323, + HGNC:29353, + HGNC_symbol:BHLHB9 ; biolink:category biolink:Gene . OMIM:300922 a owl:Class ; rdfs:label "CHIC1" ; IAO:0000142 PMID:9321471 ; - oboInOwl:hasDbXref UMLS:C1413389 ; oboInOwl:hasExactSynonym "CHIC1", "brain X-linked gene", "cysteine-rich hydrophobic domain protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53344 ; - skos:exactMatch HGNC_symbol:CHIC1 ; + skos:exactMatch UMLS:C1413389, + HGNC:1934, + HGNC_symbol:CHIC1 ; biolink:category biolink:Gene . OMIM:300924 a owl:Class ; rdfs:label "AWAT1" ; IAO:0000142 PMID:15220349, PMID:15671038 ; - oboInOwl:hasDbXref UMLS:C2681179 ; oboInOwl:hasExactSynonym "AWAT1", "acyl-coa wax alcohol acyltransferase 1", "diacyl-glycerol acyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158833 ; - skos:exactMatch HGNC_symbol:AWAT1 ; + skos:exactMatch UMLS:C2681179, + HGNC:23252, + HGNC_symbol:AWAT1 ; biolink:category biolink:Gene . OMIM:300925 a owl:Class ; @@ -105333,7 +107965,6 @@ OMIM:300925 a owl:Class ; IAO:0000142 PMID:15220349, PMID:15671038, PMID:16106050 ; - oboInOwl:hasDbXref UMLS:C1539289 ; oboInOwl:hasExactSynonym "AWAT2", "acyl-coa wax alcohol acyltransferase 2", "diacylglycerol o-acyltransferase candidate 4", @@ -105341,44 +107972,49 @@ OMIM:300925 a owl:Class ; "wax synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158835 ; - skos:exactMatch HGNC_symbol:AWAT2 ; + skos:exactMatch UMLS:C1539289, + HGNC:23251, + HGNC_symbol:AWAT2 ; biolink:category biolink:Gene . OMIM:300926 a owl:Class ; rdfs:label "DGAT2L6" ; IAO:0000142 PMID:15671038 ; - oboInOwl:hasDbXref UMLS:C1824928 ; oboInOwl:hasExactSynonym "DGAT2L6", "diacylglycerol o-acyltransferase 2-like 6", "diacylglycerol o-acyltransferase candidate 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347516 ; - skos:exactMatch HGNC_symbol:DGAT2L6 ; + skos:exactMatch UMLS:C1824928, + HGNC:23250, + HGNC_symbol:DGAT2L6 ; biolink:category biolink:Gene . OMIM:300929 a owl:Class ; rdfs:label "MIR718" ; IAO:0000142 PMID:24815691 ; - oboInOwl:hasDbXref UMLS:C2829676 ; oboInOwl:hasExactSynonym "MIR718", "micro RNA 718", "mirna718" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100313781 ; - skos:exactMatch HGNC_symbol:MIR718 ; + skos:exactMatch UMLS:C2829676, + HGNC:37317, + HGNC_symbol:MIR718 ; biolink:category biolink:Gene . OMIM:300930 a owl:Class ; rdfs:label "MAP7D3" ; IAO:0000142 PMID:22142902, PMID:24927501 ; - oboInOwl:hasDbXref UMLS:C2239668 ; oboInOwl:hasExactSynonym "MAP7D3", "map7 domain-containing protein 3", "mdp3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79649 ; - skos:exactMatch HGNC_symbol:MAP7D3 ; + skos:exactMatch UMLS:C2239668, + HGNC:25742, + HGNC_symbol:MAP7D3 ; biolink:category biolink:Gene . OMIM:300933 a owl:Class ; @@ -105387,18 +108023,18 @@ OMIM:300933 a owl:Class ; PMID:28041644 ; RO:0002525 CHR:9606chrXq22.3 ; RO:0003303 OMIM:300991 ; - oboInOwl:hasDbXref UMLS:C1539188 ; oboInOwl:hasExactSynonym "PIH1D3", "pih1 domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139212 ; - skos:exactMatch HGNC_symbol:DNAAF6 ; + skos:exactMatch UMLS:C1539188, + HGNC:28570, + HGNC_symbol:DNAAF6 ; biolink:category biolink:Gene . OMIM:300936 a owl:Class ; rdfs:label "FTX" ; IAO:0000142 PMID:21118898 ; - oboInOwl:hasDbXref UMLS:C3147341 ; oboInOwl:hasExactSynonym "FTX", "ftx transcript, xist regulator, noncoding", "gene 5-prime to xist", @@ -105406,54 +108042,60 @@ OMIM:300936 a owl:Class ; "long intergenic noncoding RNA 182" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100302692 ; - skos:exactMatch HGNC_symbol:FTX ; + skos:exactMatch UMLS:C3147341, + HGNC:37190, + HGNC_symbol:FTX ; biolink:category biolink:Gene . OMIM:300937 a owl:Class ; rdfs:label "ARHGAP36" ; IAO:0000142 PMID:25024229 ; - oboInOwl:hasDbXref UMLS:C2828632 ; oboInOwl:hasExactSynonym "ARHGAP36", "rho gtpase-activating protein 36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158763 ; - skos:exactMatch HGNC_symbol:ARHGAP36 ; + skos:exactMatch UMLS:C2828632, + HGNC:26388, + HGNC_symbol:ARHGAP36 ; biolink:category biolink:Gene . OMIM:300938 a owl:Class ; rdfs:label "MXRA5" ; IAO:0000142 PMID:22696596 ; - oboInOwl:hasDbXref UMLS:C1417516 ; oboInOwl:hasExactSynonym "MXRA5", "adlican", "matrix remodeling-associated protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25878 ; - skos:exactMatch HGNC_symbol:MXRA5 ; + skos:exactMatch UMLS:C1417516, + HGNC:7539, + HGNC_symbol:MXRA5 ; biolink:category biolink:Gene . OMIM:300940 a owl:Class ; rdfs:label "GDPD2" ; IAO:0000142 PMID:12933806 ; - oboInOwl:hasDbXref UMLS:C1539556 ; oboInOwl:hasExactSynonym "GDPD2", "glycerophosphodiester phosphodiesterase 3", "glycerophosphodiester phosphodiesterase domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54857 ; - skos:exactMatch HGNC_symbol:GDPD2 ; + skos:exactMatch UMLS:C1539556, + HGNC:25974, + HGNC_symbol:GDPD2 ; biolink:category biolink:Gene . OMIM:300941 a owl:Class ; rdfs:label "SLC25A53" ; IAO:0000142 PMID:23266187 ; - oboInOwl:hasDbXref UMLS:C3469822 ; oboInOwl:hasExactSynonym "SLC25A53", "mitochondrial carrier triple repeat 6", "solute carrier family 25, member 53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401612 ; - skos:exactMatch HGNC_symbol:SLC25A53 ; + skos:exactMatch UMLS:C3469822, + HGNC:31894, + HGNC_symbol:SLC25A53 ; biolink:category biolink:Gene . OMIM:300942 a owl:Class ; @@ -105470,22 +108112,23 @@ OMIM:300942 a owl:Class ; PMID:27245663, PMID:6278015 ; RO:0002525 CHR:9606chrXq26.3 ; - oboInOwl:hasDbXref UMLS:C3891556 ; oboInOwl:hasExactSynonym "X-linked acrogigantism", "chromosome xq26 microduplication syndrome", "chromosome xq26.3 duplication syndrome" ; + skos:exactMatch UMLS:C3891556 ; biolink:category biolink:Disease . OMIM:300944 a owl:Class ; rdfs:label "CSAG1" ; IAO:0000142 PMID:12039054 ; - oboInOwl:hasDbXref UMLS:C1539140 ; oboInOwl:hasExactSynonym "CSAG1", "chondrosarcoma-associated gene", "csag family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158511 ; - skos:exactMatch HGNC_symbol:CSAG1 ; + skos:exactMatch UMLS:C1539140, + HGNC:24294, + HGNC_symbol:CSAG1 ; biolink:category biolink:Gene . OMIM:300945 a owl:Class ; @@ -105495,49 +108138,53 @@ OMIM:300945 a owl:Class ; PMID:24942156 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:300946 ; - oboInOwl:hasDbXref UMLS:C1823523 ; oboInOwl:hasExactSynonym "TSR2", "tsr2 ribosome maturation factor", "tsr2, 20s rrna accumulation, s. cerevisiae, homolog of", "wgg motif-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90121 ; - skos:exactMatch HGNC_symbol:TSR2 ; + skos:exactMatch UMLS:C1823523, + HGNC:25455, + HGNC_symbol:TSR2 ; biolink:category biolink:Gene . OMIM:300947 a owl:Class ; rdfs:label "CCDC120" ; IAO:0000142 PMID:25326380 ; - oboInOwl:hasDbXref UMLS:C1824647 ; oboInOwl:hasExactSynonym "CCDC120", "coiled-coil domain-containing protein 120" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90060 ; - skos:exactMatch HGNC_symbol:CCDC120 ; + skos:exactMatch UMLS:C1824647, + HGNC:28910, + HGNC_symbol:CCDC120 ; biolink:category biolink:Gene . OMIM:300949 a owl:Class ; rdfs:label "FOXR2" ; IAO:0000142 PMID:15202009 ; - oboInOwl:hasDbXref UMLS:C1539529 ; oboInOwl:hasExactSynonym "FOXR2", "forkhead box n6", "forkhead box r2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139628 ; - skos:exactMatch HGNC_symbol:FOXR2 ; + skos:exactMatch UMLS:C1539529, + HGNC:30469, + HGNC_symbol:FOXR2 ; biolink:category biolink:Gene . OMIM:300950 a owl:Class ; rdfs:label "MIR20B" ; IAO:0000142 PMID:24994098 ; - oboInOwl:hasDbXref UMLS:C1825999 ; oboInOwl:hasExactSynonym "MIR20B", "micro RNA 20b", "mirna20b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574032 ; - skos:exactMatch HGNC_symbol:MIR20B ; + skos:exactMatch UMLS:C1825999, + HGNC:32024, + HGNC_symbol:MIR20B ; biolink:category biolink:Gene . OMIM:300951 a owl:Class ; @@ -105551,34 +108198,35 @@ OMIM:300951 a owl:Class ; PMID:9224902 ; RO:0002525 CHR:9606chrXq24 ; RO:0003303 OMIM:300953 ; - oboInOwl:hasDbXref UMLS:C1538859, - UMLS:C4225420 ; oboInOwl:hasExactSynonym "RNF113A", "ring finger protein 113a", "zinc finger protein 183" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7737 ; - skos:exactMatch HGNC_symbol:RNF113A ; + skos:exactMatch UMLS:C1538859, + UMLS:C4225420, + HGNC:12974, + HGNC_symbol:RNF113A ; biolink:category biolink:Gene . OMIM:300954 a owl:Class ; rdfs:label "EOLA1" ; IAO:0000142 PMID:15541360 ; - oboInOwl:hasDbXref UMLS:C1824828 ; oboInOwl:hasExactSynonym "EOLA1", "chromosome 10 open reading frame 40a", "endothelial-overexpressed lipopolysaccharide-associated factor 1", "endothelium- and lymphocyte-associated asch domain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91966 ; - skos:exactMatch HGNC_symbol:EOLA1 ; + skos:exactMatch UMLS:C1824828, + HGNC:28089, + HGNC_symbol:EOLA1 ; biolink:category biolink:Gene . OMIM:300955 a owl:Class ; rdfs:label "APOOL" ; IAO:0000142 PMID:23704930, PMID:25764979 ; - oboInOwl:hasDbXref UMLS:C1824094 ; oboInOwl:hasExactSynonym "APOOL", "apolipoprotein o-like", "chromosome 10 open reading frame 33", @@ -105587,60 +108235,66 @@ OMIM:300955 a owl:Class ; "mitochondrial contact site and cristae organizing system, 27-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139322 ; - skos:exactMatch HGNC_symbol:APOOL ; + skos:exactMatch UMLS:C1824094, + HGNC:24009, + HGNC_symbol:APOOL ; biolink:category biolink:Gene . OMIM:300956 a owl:Class ; rdfs:label "BRAFP1" ; IAO:0000142 PMID:25843629 ; - oboInOwl:hasDbXref UMLS:C1425649 ; oboInOwl:hasExactSynonym "BRAFP1", "braf pseudogene 1", "lncrna brafp1", "long noncoding RNA brafp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286494 ; - skos:exactMatch HGNC_symbol:BRAFP1 ; + skos:exactMatch UMLS:C1425649, + HGNC:18615, + HGNC_symbol:BRAFP1 ; biolink:category biolink:Gene . OMIM:300959 a owl:Class ; rdfs:label "DIPK2B" ; IAO:0000142 PMID:21264219 ; - oboInOwl:hasDbXref UMLS:C1539183 ; oboInOwl:hasExactSynonym "DIPK2B", "chromosome 10 open reading frame 36", "dia1-related protein", "divergent protein kinase domain 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79742 ; - skos:exactMatch HGNC_symbol:DIPK2B ; + skos:exactMatch UMLS:C1539183, + HGNC:25866, + HGNC_symbol:DIPK2B ; biolink:category biolink:Gene . OMIM:300961 a owl:Class ; rdfs:label "MID1IP1" ; IAO:0000142 PMID:15070402, PMID:20457939 ; - oboInOwl:hasDbXref UMLS:C1537697 ; oboInOwl:hasExactSynonym "MID1IP1", "mid1-interacting protein 1", "mig12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58526 ; - skos:exactMatch HGNC_symbol:MID1IP1 ; + skos:exactMatch UMLS:C1537697, + HGNC:20715, + HGNC_symbol:MID1IP1 ; biolink:category biolink:Gene . OMIM:300962 a owl:Class ; rdfs:label "GEMIN8" ; IAO:0000142 PMID:16434402, PMID:17023415 ; - oboInOwl:hasDbXref UMLS:C1825340 ; oboInOwl:hasExactSynonym "GEMIN8", "family with sequence similarity 51, member a1", "gem nuclear organelle-associated protein 8", "gem-associated protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54960 ; - skos:exactMatch HGNC_symbol:GEMIN8 ; + skos:exactMatch UMLS:C1825340, + HGNC:26044, + HGNC_symbol:GEMIN8 ; biolink:category biolink:Gene . OMIM:300964 a owl:Class ; @@ -105651,27 +108305,29 @@ OMIM:300964 a owl:Class ; PMID:25644381 ; RO:0002525 CHR:9606chrXq12 ; RO:0003303 OMIM:309585 ; - oboInOwl:hasDbXref UMLS:C1537526 ; oboInOwl:hasExactSynonym "LAS1L", "las1, s. cerevisiae, homolog of", "las1-like ribosome biogenesis factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81887 ; - skos:exactMatch HGNC_symbol:LAS1L ; + skos:exactMatch UMLS:C1537526, + HGNC:25726, + HGNC_symbol:LAS1L ; biolink:category biolink:Gene . OMIM:300965 a owl:Class ; rdfs:label "RGAG1" ; IAO:0000142 PMID:10718198, PMID:15716091 ; - oboInOwl:hasDbXref UMLS:C1538833 ; oboInOwl:hasExactSynonym "RGAG1", "kiaa1318", "mammalian retrotransposon-derived gene 9", "retrotransposon gag domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57529 ; - skos:exactMatch HGNC_symbol:RTL9 ; + skos:exactMatch UMLS:C1538833, + HGNC:29245, + HGNC_symbol:RTL9 ; biolink:category biolink:Gene . OMIM:300969 a owl:Class ; @@ -105681,51 +108337,55 @@ OMIM:300969 a owl:Class ; PMID:28096187 ; RO:0002525 CHR:9606chrXq22.1 ; RO:0003303 OMIM:301018 ; - oboInOwl:hasDbXref UMLS:C1539613 ; oboInOwl:hasExactSynonym "GPRASP2", "g protein-coupled receptor-associated sorting protein 2", "gasp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114928 ; - skos:exactMatch HGNC_symbol:GPRASP2 ; + skos:exactMatch UMLS:C1539613, + HGNC:25169, + HGNC_symbol:GPRASP2 ; biolink:category biolink:Gene . OMIM:300970 a owl:Class ; rdfs:label "MORC4" ; IAO:0000142 PMID:14607086, PMID:17608765 ; - oboInOwl:hasDbXref UMLS:C1826268 ; oboInOwl:hasExactSynonym "MORC4", "morc family cw-type zinc finger protein 4", "zinc finger cw domain protein 4: zcw4", "zinc finger cw domain- and coiled-coil domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79710 ; - skos:exactMatch HGNC_symbol:MORC4 ; + skos:exactMatch UMLS:C1826268, + HGNC:23485, + HGNC_symbol:MORC4 ; biolink:category biolink:Gene . OMIM:300973 a owl:Class ; rdfs:label "RHOXF1P1" ; IAO:0000142 PMID:27066803 ; - oboInOwl:hasDbXref UMLS:C4085623 ; oboInOwl:hasExactSynonym "RHOXF1P1", "lncrhoxf1", "rhox homeobox family member 1, pseudogene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101928941 ; - skos:exactMatch HGNC_symbol:RHOXF1P1 ; + skos:exactMatch UMLS:C4085623, + HGNC:51580, + HGNC_symbol:RHOXF1P1 ; biolink:category biolink:Gene . OMIM:300974 a owl:Class ; rdfs:label "PLCXD1" ; IAO:0000142 PMID:22732399 ; - oboInOwl:hasDbXref UMLS:C1538665 ; oboInOwl:hasExactSynonym "PLCXD1", "phospholipase c, phosphatidylinositol-specific, 10 domain-containing protein 1", "piplc 10 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55344 ; - skos:exactMatch HGNC_symbol:PLCXD1 ; + skos:exactMatch UMLS:C1538665, + HGNC:23148, + HGNC_symbol:PLCXD1 ; biolink:category biolink:Gene . OMIM:300975 a owl:Class ; @@ -105735,25 +108395,27 @@ OMIM:300975 a owl:Class ; PMID:27013495 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300984 ; - oboInOwl:hasDbXref UMLS:C1422016 ; oboInOwl:hasExactSynonym "USP27X", "ubiquitin-specific protease 27, X-linked", "usp22-like", "usp27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389856 ; - skos:exactMatch HGNC_symbol:USP27X ; + skos:exactMatch UMLS:C1422016, + HGNC:13486, + HGNC_symbol:USP27X ; biolink:category biolink:Gene . OMIM:300976 a owl:Class ; rdfs:label "FAM46D" ; IAO:0000142 PMID:19540335 ; - oboInOwl:hasDbXref UMLS:C1539446 ; oboInOwl:hasExactSynonym "FAM46D", "family with sequence similarity 46, member d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:169966 ; - skos:exactMatch HGNC_symbol:TENT5D ; + skos:exactMatch UMLS:C1539446, + HGNC:28399, + HGNC_symbol:TENT5D ; biolink:category biolink:Gene . OMIM:300979 a owl:Class ; @@ -105763,10 +108425,10 @@ OMIM:300979 a owl:Class ; PMID:25677961, PMID:26443594 ; RO:0002525 CHR:9606chrXq25 ; - oboInOwl:hasDbXref UMLS:C4310830, - UMLS:C4311049 ; oboInOwl:hasExactSynonym "chromosome xq25 duplication syndrome", "chromosome xq25 triplication syndrome" ; + skos:exactMatch UMLS:C4310830, + UMLS:C4311049 ; biolink:category biolink:Disease . OMIM:300980 a owl:Class ; @@ -105778,25 +108440,27 @@ OMIM:300980 a owl:Class ; PMID:25644381 ; RO:0002525 CHR:9606chrXp22.11 ; RO:0003303 OMIM:300982 ; - oboInOwl:hasDbXref UMLS:C1537495 ; oboInOwl:hasExactSynonym "KLHL15", "kelch-like 15", "kiaa1677" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80311 ; - skos:exactMatch HGNC_symbol:KLHL15 ; + skos:exactMatch UMLS:C1537495, + HGNC:29347, + HGNC_symbol:KLHL15 ; biolink:category biolink:Gene . OMIM:300981 a owl:Class ; rdfs:label "VCX3B" ; IAO:0000142 PMID:10903929 ; - oboInOwl:hasDbXref UMLS:C1540176 ; oboInOwl:hasExactSynonym "VCX3B", "variably charged, 10 chromosome, 3b", "variably charged, 10 chromosome, c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:425054 ; - skos:exactMatch HGNC_symbol:VCX3B ; + skos:exactMatch UMLS:C1540176, + HGNC:31838, + HGNC_symbol:VCX3B ; biolink:category biolink:Gene . OMIM:300987 a owl:Class ; @@ -105806,22 +108470,23 @@ OMIM:300987 a owl:Class ; OMIM:300989 a owl:Class ; rdfs:label "meester-loeys syndrome" ; IAO:0000142 PMID:27632686 ; - oboInOwl:hasDbXref UMLS:C4310811 ; oboInOwl:hasExactSynonym "MRLS", "meester-loeys syndrome" ; + skos:exactMatch UMLS:C4310811 ; biolink:category biolink:Disease . OMIM:300992 a owl:Class ; rdfs:label "NBDY" ; IAO:0000142 PMID:27918561 ; - oboInOwl:hasDbXref UMLS:C4320588 ; oboInOwl:hasExactSynonym "NBDY", "long intergenic noncoding RNA 1420", "negative regulator of p-body association", "nonannotated p-body-dissociating polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:550643 ; - skos:exactMatch HGNC_symbol:NBDY ; + skos:exactMatch UMLS:C4320588, + HGNC:50713, + HGNC_symbol:NBDY ; biolink:category biolink:Gene . OMIM:300993 a owl:Class ; @@ -105829,51 +108494,55 @@ OMIM:300993 a owl:Class ; IAO:0000142 PMID:15122589, PMID:15162151, PMID:25936801 ; - oboInOwl:hasDbXref UMLS:C1538592 ; oboInOwl:hasExactSynonym "PASD1", "cancer-testis antigen 63", "oxtes1", "pas domain-containing repressor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139135 ; - skos:exactMatch HGNC_symbol:PASD1 ; + skos:exactMatch UMLS:C1538592, + HGNC:20686, + HGNC_symbol:PASD1 ; biolink:category biolink:Gene . OMIM:300994 a owl:Class ; rdfs:label "HDX" ; IAO:0000142 PMID:21423795, PMID:23441923 ; - oboInOwl:hasDbXref UMLS:C1539190 ; oboInOwl:hasExactSynonym "HDX", "chromosome 10 open reading frame 43", "highly divergent homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:139324 ; - skos:exactMatch HGNC_symbol:HDX ; + skos:exactMatch UMLS:C1539190, + HGNC:26411, + HGNC_symbol:HDX ; biolink:category biolink:Gene . OMIM:300995 a owl:Class ; rdfs:label "KIAA1210" ; IAO:0000142 PMID:10574462, PMID:28203736 ; - oboInOwl:hasDbXref UMLS:C2681627 ; oboInOwl:hasExactSynonym "KIAA1210", "kiaa1210 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57481 ; - skos:exactMatch HGNC_symbol:KIAA1210 ; + skos:exactMatch UMLS:C2681627, + HGNC:29218, + HGNC_symbol:KIAA1210 ; biolink:category biolink:Gene . OMIM:300996 a owl:Class ; rdfs:label "YIPF6" ; IAO:0000142 PMID:28286305, PMID:31289229 ; - oboInOwl:hasDbXref UMLS:C1823891 ; oboInOwl:hasExactSynonym "YIPF6", "yip1 domain family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286451 ; - skos:exactMatch HGNC_symbol:YIPF6 ; + skos:exactMatch UMLS:C1823891, + HGNC:28304, + HGNC_symbol:YIPF6 ; biolink:category biolink:Gene . OMIM:300998 a owl:Class ; @@ -105881,42 +108550,43 @@ OMIM:300998 a owl:Class ; IAO:0000142 PMID:25316788, PMID:25846674, PMID:26290468 ; - oboInOwl:hasDbXref UMLS:C4478383 ; oboInOwl:hasExactSynonym "MRXS35", "intellectual developmental disorder, x-linked, syndromic, 35", "mental retardation, x-linked, syndromic, 35" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C4478383 ; biolink:category biolink:Disease . OMIM:300999 a owl:Class ; rdfs:label "FIRRE" ; IAO:0000142 PMID:24463464, PMID:25887447 ; - oboInOwl:hasDbXref UMLS:C3816902 ; oboInOwl:hasExactSynonym "FIRRE", "functional intergenic repeating RNA element", "long intergenic noncoding RNA 1200" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286467 ; - skos:exactMatch HGNC_symbol:FIRRE ; + skos:exactMatch UMLS:C3816902, + HGNC:49627, + HGNC_symbol:FIRRE ; biolink:category biolink:Gene . OMIM:301001 a owl:Class ; rdfs:label "DANT1" ; IAO:0000142 PMID:25887447, PMID:26188586 ; - oboInOwl:hasDbXref UMLS:C4085163 ; oboInOwl:hasExactSynonym "DANT1", "dxz4-associated noncoding transcript 1, proximal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:106029310 ; - skos:exactMatch HGNC_symbol:DANT1 ; + skos:exactMatch UMLS:C4085163, + HGNC:50863, + HGNC_symbol:DANT1 ; biolink:category biolink:Gene . OMIM:301002 a owl:Class ; rdfs:label "SRPK3" ; IAO:0000142 PMID:16140986 ; - oboInOwl:hasDbXref UMLS:C1823126 ; oboInOwl:hasExactSynonym "SRPK3", "muscle-specific serine kinase 1", "protein kinase, arginine/serine-rich splicing factor, 3", @@ -105925,7 +108595,9 @@ OMIM:301002 a owl:Class ; "stk23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26576 ; - skos:exactMatch HGNC_symbol:SRPK3 ; + skos:exactMatch UMLS:C1823126, + HGNC:11402, + HGNC_symbol:SRPK3 ; biolink:category biolink:Gene . OMIM:301003 a owl:Class ; @@ -105933,56 +108605,59 @@ OMIM:301003 a owl:Class ; IAO:0000142 PMID:21880142, PMID:25296192, PMID:8938429 ; - oboInOwl:hasDbXref UMLS:C1539601 ; oboInOwl:hasExactSynonym "GPKOW", "g-patch domain and kow motifs", "g-patch domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27238 ; - skos:exactMatch HGNC_symbol:GPKOW ; + skos:exactMatch UMLS:C1539601, + HGNC:30677, + HGNC_symbol:GPKOW ; biolink:category biolink:Gene . OMIM:301004 a owl:Class ; rdfs:label "DANT2" ; IAO:0000142 PMID:26188586 ; - oboInOwl:hasDbXref UMLS:C4085162 ; oboInOwl:hasExactSynonym "DANT2", "dxz4-associated noncoding transcript 2, distal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642776 ; - skos:exactMatch HGNC_symbol:DANT2 ; + skos:exactMatch UMLS:C4085162, + HGNC:50862, + HGNC_symbol:DANT2 ; biolink:category biolink:Gene . OMIM:301005 a owl:Class ; rdfs:label "FRMPD3" ; IAO:0000142 PMID:11347906 ; - oboInOwl:hasDbXref UMLS:C1825316 ; oboInOwl:hasExactSynonym "FRMPD3", "ferm- and pdz domain-containing protein 3", "kiaa1817" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84443 ; - skos:exactMatch HGNC_symbol:FRMPD3 ; + skos:exactMatch UMLS:C1825316, + HGNC:29382, + HGNC_symbol:FRMPD3 ; biolink:category biolink:Gene . OMIM:301007 a owl:Class ; rdfs:label "ZMAT1" ; IAO:0000142 PMID:11347906, PMID:26191264 ; - oboInOwl:hasDbXref UMLS:C1538175 ; oboInOwl:hasExactSynonym "ZMAT1", "kiaa1789", "zinc finger, matrin-type 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84460 ; - skos:exactMatch HGNC_symbol:ZMAT1 ; + skos:exactMatch UMLS:C1538175, + HGNC:29377, + HGNC_symbol:ZMAT1 ; biolink:category biolink:Gene . OMIM:301009 a owl:Class ; rdfs:label "PAGE5" ; IAO:0000142 PMID:22073178, PMID:23028975 ; - oboInOwl:hasDbXref UMLS:C1538570 ; oboInOwl:hasExactSynonym "PAGE5", "cancer-testis antigen 16", "g antigen family e, member 1", @@ -105990,7 +108665,9 @@ OMIM:301009 a owl:Class ; "prostate-associated gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90737 ; - skos:exactMatch HGNC_symbol:PAGE5 ; + skos:exactMatch UMLS:C1538570, + HGNC:29992, + HGNC_symbol:PAGE5 ; biolink:category biolink:Gene . OMIM:301011 a owl:Class ; @@ -106002,12 +108679,13 @@ OMIM:301011 a owl:Class ; PMID:3390827, PMID:8946822, PMID:8946830 ; - oboInOwl:hasDbXref UMLS:C2680491 ; oboInOwl:hasExactSynonym "TMSB15B", "thymosin, beta-15b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286527 ; - skos:exactMatch HGNC_symbol:TMSB15B ; + skos:exactMatch UMLS:C2680491, + HGNC:28612, + HGNC_symbol:TMSB15B ; biolink:category biolink:Gene . OMIM:301012 a owl:Class ; @@ -106015,13 +108693,14 @@ OMIM:301012 a owl:Class ; IAO:0000142 PMID:29374277 ; RO:0002525 CHR:9606chrXq24 ; RO:0003303 OMIM:301013 ; - oboInOwl:hasDbXref UMLS:C1824833 ; oboInOwl:hasExactSynonym "STEEP1", "chromosome 10 open reading frame 56", "sting1 er exit protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63932 ; - skos:exactMatch HGNC_symbol:STEEP1 ; + skos:exactMatch UMLS:C1824833, + HGNC:26239, + HGNC_symbol:STEEP1 ; biolink:category biolink:Gene . OMIM:301016 a owl:Class ; @@ -106029,12 +108708,13 @@ OMIM:301016 a owl:Class ; IAO:0000142 PMID:16213650, PMID:17447155, PMID:30135582 ; - oboInOwl:hasDbXref UMLS:C1427380 ; oboInOwl:hasExactSynonym "RAP2C", "ras-related protein 2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57826 ; - skos:exactMatch HGNC_symbol:RAP2C ; + skos:exactMatch UMLS:C1427380, + HGNC:21165, + HGNC_symbol:RAP2C ; biolink:category biolink:Gene . OMIM:301017 a owl:Class ; @@ -106042,7 +108722,6 @@ OMIM:301017 a owl:Class ; IAO:0000142 PMID:11076525, PMID:11948623, PMID:24195737 ; - oboInOwl:hasDbXref UMLS:C1424188 ; oboInOwl:hasExactSynonym "PPP1R2C", "ppp1r2 family, member c", "protein phosphatase 1 inhibitor 4", @@ -106050,13 +108729,14 @@ OMIM:301017 a owl:Class ; "protein phosphatase 1, regulatory subunit 2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80316 ; - skos:exactMatch HGNC_symbol:PPP1R2C ; + skos:exactMatch UMLS:C1424188, + HGNC:16324, + HGNC_symbol:PPP1R2C ; biolink:category biolink:Gene . OMIM:301019 a owl:Class ; rdfs:label "KANTR" ; IAO:0000142 PMID:24381249 ; - oboInOwl:hasDbXref UMLS:C3812627 ; oboInOwl:hasExactSynonym "KANTR", "kdm5c adjacent transcript, noncoding", "lincrna kantr", @@ -106065,23 +108745,24 @@ OMIM:301019 a owl:Class ; "long intergenic noncoding transcript kantr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:102723508 ; - skos:exactMatch HGNC_symbol:KANTR ; + skos:exactMatch UMLS:C3812627, + HGNC:49510, + HGNC_symbol:KANTR ; biolink:category biolink:Gene . OMIM:301021 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 30" ; IAO:0000142 PMID:26741492 ; - oboInOwl:hasDbXref UMLS:C4746985 ; oboInOwl:hasExactSynonym "MC1DN30", "mitochondrial complex 1 deficiency, nuclear iia 30" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4746985 ; biolink:category biolink:Disease . OMIM:301023 a owl:Class ; rdfs:label "MIR532" ; IAO:0000142 PMID:26515139, PMID:29016706 ; - oboInOwl:hasDbXref UMLS:C1826114 ; oboInOwl:hasExactSynonym "MIR532", "micro RNA 532", "microrna532", @@ -106089,7 +108770,9 @@ OMIM:301023 a owl:Class ; "mirna532-5p" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693124 ; - skos:exactMatch HGNC_symbol:MIR532 ; + skos:exactMatch UMLS:C1826114, + HGNC:32795, + HGNC_symbol:MIR532 ; biolink:category biolink:Gene . OMIM:301027 a owl:Class ; @@ -106097,12 +108780,13 @@ OMIM:301027 a owl:Class ; IAO:0000142 PMID:30661770 ; RO:0002525 CHR:9606chrXq22.3 ; RO:0003303 OMIM:301028 ; - oboInOwl:hasDbXref UMLS:C1823241 ; oboInOwl:hasExactSynonym "TBC1D8B", "tbc1 domain family, member 8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54885 ; - skos:exactMatch HGNC_symbol:TBC1D8B ; + skos:exactMatch UMLS:C1823241, + HGNC:24715, + HGNC_symbol:TBC1D8B ; biolink:category biolink:Gene . OMIM:301031 a owl:Class ; @@ -106122,7 +108806,8 @@ OMIM:301034 a owl:Class ; "dehydrogenase/reductase, sdr family, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:207063 ; - skos:exactMatch HGNC_symbol:DHRSX ; + skos:exactMatch HGNC:18399, + HGNC_symbol:DHRSX ; biolink:category biolink:Gene . OMIM:301036 a owl:Class ; @@ -106137,7 +108822,8 @@ OMIM:301036 a owl:Class ; "ezh inhibitory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340602 ; - skos:exactMatch HGNC_symbol:EZHIP ; + skos:exactMatch HGNC:33738, + HGNC_symbol:EZHIP ; biolink:category biolink:Gene . OMIM:301037 a owl:Class ; @@ -106147,7 +108833,8 @@ OMIM:301037 a owl:Class ; "h2a.b variant histone 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:474382 ; - skos:exactMatch HGNC_symbol:H2AB1 ; + skos:exactMatch HGNC:22516, + HGNC_symbol:H2AB1 ; biolink:category biolink:Gene . OMIM:301038 a owl:Class ; @@ -106157,7 +108844,8 @@ OMIM:301038 a owl:Class ; "h2a.b variant histone 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:474381 ; - skos:exactMatch HGNC_symbol:H2AB2 ; + skos:exactMatch HGNC:18298, + HGNC_symbol:H2AB2 ; biolink:category biolink:Gene . OMIM:301042 a owl:Class ; @@ -106166,69 +108854,73 @@ OMIM:301042 a owl:Class ; PMID:25855506, PMID:29187281, PMID:29786068 ; - oboInOwl:hasDbXref UMLS:C1539540 ; oboInOwl:hasExactSynonym "FUNDC2", "cervical cancer oncogene 3", "fun14 domain-containing protein 2", "hepatitis c virus core-binding protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65991 ; - skos:exactMatch HGNC_symbol:FUNDC2 ; + skos:exactMatch UMLS:C1539540, + HGNC:24925, + HGNC_symbol:FUNDC2 ; biolink:category biolink:Gene . OMIM:301043 a owl:Class ; rdfs:label "holoprosencephaly 13, X-linked" ; IAO:0000142 PMID:30765867, PMID:31334757 ; - oboInOwl:hasDbXref UMLS:C5393308, - ORPHA:220386, - ORPHA:93925 ; oboInOwl:hasExactSynonym "HPE13", "holoprosencephaly 13, X-linked" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C5393308, + ORPHA:220386, + ORPHA:93925 ; biolink:category biolink:Disease . OMIM:301045 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iir" ; IAO:0000142 PMID:29127204 ; - oboInOwl:hasDbXref UMLS:C5393313 ; oboInOwl:hasExactSynonym "CDG2R", "cdg iir", "congenital disorder of glycosylation, iia iir" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C5393313 ; biolink:category biolink:Disease . OMIM:301046 a owl:Class ; rdfs:label "ARMCX4" ; IAO:0000142 PMID:22569362 ; - oboInOwl:hasDbXref UMLS:C1538942 ; oboInOwl:hasExactSynonym "ARMCX4", "armadillo repeat-containing protein, X-linked 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100131755 ; - skos:exactMatch HGNC_symbol:ARMCX4 ; + skos:exactMatch UMLS:C1538942, + HGNC:28615, + HGNC_symbol:ARMCX4 ; biolink:category biolink:Gene . OMIM:301047 a owl:Class ; rdfs:label "ARMCX5" ; IAO:0000142 PMID:22569362 ; - oboInOwl:hasDbXref UMLS:C1538943 ; oboInOwl:hasExactSynonym "ARMCX5", "armadillo repeat-containing protein, X-linked 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64860 ; - skos:exactMatch HGNC_symbol:ARMCX5 ; + skos:exactMatch UMLS:C1538943, + HGNC:25772, + HGNC_symbol:ARMCX5 ; biolink:category biolink:Gene . OMIM:301048 a owl:Class ; rdfs:label "ARMCX6" ; IAO:0000142 PMID:22569362 ; - oboInOwl:hasDbXref UMLS:C1538944 ; oboInOwl:hasExactSynonym "ARMCX6", "armadillo repeat-containing protein, X-linked 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54470 ; - skos:exactMatch HGNC_symbol:ARMCX6 ; + skos:exactMatch UMLS:C1538944, + HGNC:26094, + HGNC_symbol:ARMCX6 ; biolink:category biolink:Gene . OMIM:301049 a owl:Class ; @@ -106236,25 +108928,27 @@ OMIM:301049 a owl:Class ; IAO:0000142 PMID:31001245, PMID:31695690, PMID:32433612 ; - oboInOwl:hasDbXref UMLS:C1539172 ; oboInOwl:hasExactSynonym "TASL", "chromosome 10 open reading frame 21", "tlr adaptor interacting with endolysosomal slc15a4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80231 ; - skos:exactMatch HGNC_symbol:TASL ; + skos:exactMatch UMLS:C1539172, + HGNC:25667, + HGNC_symbol:TASL ; biolink:category biolink:Gene . OMIM:301053 a owl:Class ; rdfs:label "MIR505" ; IAO:0000142 PMID:31544253 ; - oboInOwl:hasDbXref UMLS:C1826059 ; oboInOwl:hasExactSynonym "MIR505", "micro RNA 505", "mirna505" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574508 ; - skos:exactMatch HGNC_symbol:MIR505 ; + skos:exactMatch UMLS:C1826059, + HGNC:32140, + HGNC_symbol:MIR505 ; biolink:category biolink:Gene . OMIM:301055 a owl:Class ; @@ -106264,7 +108958,8 @@ OMIM:301055 a owl:Class ; "cpx chromosome region, candidate gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53336 ; - skos:exactMatch HGNC_symbol:CPXCR1 ; + skos:exactMatch HGNC:2332, + HGNC_symbol:CPXCR1 ; biolink:category biolink:Gene . OMIM:301057 a owl:Class ; @@ -106277,7 +108972,8 @@ OMIM:301057 a owl:Class ; "cilia- and flagella-associated protein 47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286464 ; - skos:exactMatch HGNC_symbol:CFAP47 ; + skos:exactMatch HGNC:26708, + HGNC_symbol:CFAP47 ; biolink:category biolink:Gene . OMIM:301061 a owl:Class ; @@ -106286,7 +108982,8 @@ OMIM:301061 a owl:Class ; "myotubularin-related protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55613 ; - skos:exactMatch HGNC_symbol:MTMR8 ; + skos:exactMatch HGNC:16825, + HGNC_symbol:MTMR8 ; biolink:category biolink:Gene . OMIM:301062 a owl:Class ; @@ -106296,7 +108993,8 @@ OMIM:301062 a owl:Class ; "mirna766" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:768218 ; - skos:exactMatch HGNC_symbol:MIR766 ; + skos:exactMatch HGNC:33139, + HGNC_symbol:MIR766 ; biolink:category biolink:Gene . OMIM:301064 a owl:Class ; @@ -106305,7 +109003,8 @@ OMIM:301064 a owl:Class ; "melanoma antigen, family b, 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286514 ; - skos:exactMatch HGNC_symbol:MAGEB18 ; + skos:exactMatch HGNC:28515, + HGNC_symbol:MAGEB18 ; biolink:category biolink:Gene . OMIM:301065 a owl:Class ; @@ -106315,7 +109014,8 @@ OMIM:301065 a owl:Class ; "ras-related protein rab40a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142684 ; - skos:exactMatch HGNC_symbol:RAB40A ; + skos:exactMatch HGNC:18283, + HGNC_symbol:RAB40A ; biolink:category biolink:Gene . OMIM:301066 a owl:Class ; @@ -106330,7 +109030,8 @@ OMIM:301067 a owl:Class ; "family with sequence similarity 47, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442444 ; - skos:exactMatch HGNC_symbol:FAM47C ; + skos:exactMatch HGNC:25301, + HGNC_symbol:FAM47C ; biolink:category biolink:Gene . OMIM:301069 a owl:Class ; @@ -106347,7 +109048,8 @@ OMIM:301070 a owl:Class ; "wd repeat domain-containing protein 44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54521 ; - skos:exactMatch HGNC_symbol:WDR44 ; + skos:exactMatch HGNC:30512, + HGNC_symbol:WDR44 ; biolink:category biolink:Gene . OMIM:301072 a owl:Class ; @@ -106365,7 +109067,17 @@ OMIM:301073 a owl:Class ; "beta-m" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23439 ; - skos:exactMatch HGNC_symbol:ATP1B4 ; + skos:exactMatch HGNC:808, + HGNC_symbol:ATP1B4 ; + biolink:category biolink:Gene . + +OMIM:301079 a owl:Class ; + rdfs:label "DDX53" ; + oboInOwl:hasExactSynonym "DDX53", + "cancer-associated gene", + "cancer/testis antigen 26", + "dead-box helicase 53" ; + rdfs:subClassOf SO:0000704 ; biolink:category biolink:Gene . OMIM:301090 a owl:Class ; @@ -106385,10 +109097,10 @@ OMIM:301220 a owl:Class ; PMID:6794369, PMID:7977467, PMID:8302737 ; - oboInOwl:hasDbXref UMLS:C1845050 ; oboInOwl:hasExactSynonym "PDR", "pigmentary disorder, reticulate, with systemic manifestations, X-linked", "xlpdr" ; + skos:exactMatch UMLS:C1845050 ; biolink:category biolink:Disease . OMIM:301300 a owl:Class ; @@ -106427,14 +109139,15 @@ OMIM:301300 a owl:Class ; PMID:9858242 ; RO:0002525 CHR:9606chrXp11.21 ; RO:0003303 OMIM:300752 ; - oboInOwl:hasDbXref UMLS:C1412331 ; oboInOwl:hasExactSynonym "5-aminolevulinate synthase, erythroid-specific", "ALAS2", "alas, erythroid", "delta-aminolevulinate synthase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:212 ; - skos:exactMatch HGNC_symbol:ALAS2 ; + skos:exactMatch UMLS:C1412331, + HGNC:397, + HGNC_symbol:ALAS2 ; biolink:category biolink:Gene . OMIM:301590 a owl:Class ; @@ -106445,8 +109158,8 @@ OMIM:301700 a owl:Class ; rdfs:label "anosmia, isolated congenital, X-linked" ; IAO:0000142 PMID:17781959, PMID:27040985 ; - oboInOwl:hasDbXref UMLS:C0393778 ; - oboInOwl:hasExactSynonym "anosmia, isolated congenital, X-linked" . + oboInOwl:hasExactSynonym "anosmia, isolated congenital, X-linked" ; + skos:exactMatch UMLS:C0393778 . OMIM:301770 a owl:Class ; rdfs:label "ARR3" ; @@ -106458,7 +109171,6 @@ OMIM:301770 a owl:Class ; PMID:9931451 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:301010 ; - oboInOwl:hasDbXref UMLS:C1412551 ; oboInOwl:hasExactSynonym "ARR3", "arrestin 3, retinal", "arrestin 4", @@ -106466,28 +109178,31 @@ OMIM:301770 a owl:Class ; "x-arrestin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407 ; - skos:exactMatch HGNC_symbol:ARR3 ; + skos:exactMatch UMLS:C1412551, + HGNC:710, + HGNC_symbol:ARR3 ; biolink:category biolink:Gene . OMIM:301780 a owl:Class ; rdfs:label "ARSC2" ; IAO:0000142 PMID:1690506, PMID:2065092 ; - oboInOwl:hasDbXref UMLS:C1412555 ; oboInOwl:hasExactSynonym "ARSC2", "arsc, f form", "arylsulfatase c, isozyme f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:413 ; - skos:exactMatch HGNC_symbol:ARSC2 ; + skos:exactMatch UMLS:C1412555, + HGNC:716, + HGNC_symbol:ARSC2 ; biolink:category biolink:Gene . OMIM:301800 a owl:Class ; rdfs:label "anus, imperforate" ; IAO:0000142 PMID:14271507, PMID:5505692 ; - oboInOwl:hasDbXref UMLS:C0003466 ; - oboInOwl:hasExactSynonym "anus, imperforate" . + oboInOwl:hasExactSynonym "anus, imperforate" ; + skos:exactMatch UMLS:C0003466 . OMIM:301810 a owl:Class ; IAO:0100001 OMIM:215700 ; @@ -106496,8 +109211,8 @@ OMIM:301810 a owl:Class ; OMIM:301815 a owl:Class ; rdfs:label "arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay" ; IAO:0000142 PMID:7504881 ; - oboInOwl:hasDbXref UMLS:C1844935 ; - oboInOwl:hasExactSynonym "arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay" . + oboInOwl:hasExactSynonym "arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay" ; + skos:exactMatch UMLS:C1844935 . OMIM:301820 a owl:Class ; IAO:0100001 OMIM:208085 ; @@ -106513,19 +109228,19 @@ OMIM:301835 a owl:Class ; PMID:3614654, PMID:8498830, PMID:8882866 ; - oboInOwl:hasDbXref UMLS:C0796028 ; oboInOwl:hasExactSynonym "ARTS", "arts syndrome", "ataxia, fatal x-linked, with deafness and loss of vision", "mental retardation, x-linked, syndromic 18", "mental retardation, x-linked, syndromic, arts iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0796028 ; biolink:category biolink:Disease . OMIM:301850 a owl:Class ; rdfs:label "tubulin, beta" ; - oboInOwl:hasDbXref UMLS:C3887557 ; - oboInOwl:hasExactSynonym "tubulin, beta" . + oboInOwl:hasExactSynonym "tubulin, beta" ; + skos:exactMatch UMLS:C3887557 . OMIM:301870 a owl:Class ; rdfs:label "BGN" ; @@ -106551,13 +109266,14 @@ OMIM:301870 a owl:Class ; PMID:9731537 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300106 ; - oboInOwl:hasDbXref UMLS:C1412792 ; oboInOwl:hasExactSynonym "BGN", "biglycan", "proteoglycan 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:633 ; - skos:exactMatch HGNC_symbol:BGN ; + skos:exactMatch UMLS:C1412792, + HGNC:1044, + HGNC_symbol:BGN ; biolink:category biolink:Gene . OMIM:301880 a owl:Class ; @@ -106566,9 +109282,9 @@ OMIM:301880 a owl:Class ; OMIM:301940 a owl:Class ; rdfs:label "brachydactyly, mononen iia" ; IAO:0000142 PMID:1632443 ; - oboInOwl:hasDbXref UMLS:C1844919 ; oboInOwl:hasExactSynonym "brachydactyly, mononen iia", - "thumbs and great toes, short and abducted" . + "thumbs and great toes, short and abducted" ; + skos:exactMatch UMLS:C1844919 . OMIM:301950 a owl:Class ; rdfs:label "branchial arch syndrome, X-linked" ; @@ -106576,9 +109292,9 @@ OMIM:301950 a owl:Class ; PMID:12002155, PMID:4039890, PMID:8465866 ; - oboInOwl:hasDbXref UMLS:C1844918 ; oboInOwl:hasExactSynonym "branchial arch syndrome, X-linked", - "mandibulofacial dysostosis, toriello iia" . + "mandibulofacial dysostosis, toriello iia" ; + skos:exactMatch UMLS:C1844918 . OMIM:302020 a owl:Class ; rdfs:label "S100G" ; @@ -106587,7 +109303,6 @@ OMIM:302020 a owl:Class ; PMID:1610358, PMID:16895982, PMID:8308886 ; - oboInOwl:hasDbXref UMLS:C1539718 ; oboInOwl:hasExactSynonym "S100G", "calbindin 3", "calbindin d9k", @@ -106595,15 +109310,17 @@ OMIM:302020 a owl:Class ; "vitamin d-dependent calcium-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:795 ; - skos:exactMatch HGNC_symbol:S100G ; + skos:exactMatch UMLS:C1539718, + HGNC:1436, + HGNC_symbol:S100G ; biolink:category biolink:Gene . OMIM:302030 a owl:Class ; rdfs:label "calvarial hyperostosis" ; IAO:0000142 PMID:24145306, PMID:3512133 ; - oboInOwl:hasDbXref UMLS:C1863351 ; oboInOwl:hasExactSynonym "calvarial hyperostosis" ; + skos:exactMatch UMLS:C1863351 ; biolink:category biolink:Disease . OMIM:302045 a owl:Class ; @@ -106619,11 +109336,11 @@ OMIM:302045 a owl:Class ; PMID:8789442, PMID:9170407, PMID:975127 ; - oboInOwl:hasDbXref UMLS:C3668940 ; oboInOwl:hasExactSynonym "CMD3B", "cardiomyopathy, dilated, 3b", "cardiomyopathy, dilated, X-linked" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C3668940 ; biolink:category biolink:Disease . OMIM:302300 a owl:Class ; @@ -106636,8 +109353,8 @@ OMIM:302380 a owl:Class ; OMIM:302400 a owl:Class ; rdfs:label "central incisors, absence of" ; - oboInOwl:hasDbXref UMLS:C1844886 ; - oboInOwl:hasExactSynonym "central incisors, absence of" . + oboInOwl:hasExactSynonym "central incisors, absence of" ; + skos:exactMatch UMLS:C1844886 . OMIM:302650 a owl:Class ; rdfs:label "CDR1" ; @@ -106647,21 +109364,22 @@ OMIM:302650 a owl:Class ; PMID:2326268, PMID:2348838, PMID:3474619 ; - oboInOwl:hasDbXref UMLS:C1332741 ; oboInOwl:hasExactSynonym "CDR1", "cdr", "cerebellar degeneration-related autoantigen 1", "cerebellar degeneration-related autoantigen, 34-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1038 ; - skos:exactMatch HGNC_symbol:CDR1 ; + skos:exactMatch UMLS:C1332741, + HGNC:1798, + HGNC_symbol:CDR1 ; biolink:category biolink:Gene . OMIM:302700 a owl:Class ; rdfs:label "cerebral sclerosis, diffuse, scholz iia" ; IAO:0000142 PMID:14431398 ; - oboInOwl:hasDbXref UMLS:C1844884 ; - oboInOwl:hasExactSynonym "cerebral sclerosis, diffuse, scholz iia" . + oboInOwl:hasExactSynonym "cerebral sclerosis, diffuse, scholz iia" ; + skos:exactMatch UMLS:C1844884 . OMIM:302802 a owl:Class ; rdfs:label "charcot-marie-tooth disease, X-linked recessive, 3" ; @@ -106674,24 +109392,24 @@ OMIM:302802 a owl:Class ; PMID:29626178 ; RO:0002525 CHR:9606chrXq26 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C1844865 ; oboInOwl:hasExactSynonym "CMTX3", "charcot-marie-tooth disease, X-linked recessive, 3", "charcot-marie-tooth neuropathy, X-linked recessive, 3" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1844865 ; biolink:category biolink:Disease . OMIM:302803 a owl:Class ; rdfs:label "charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita" ; IAO:0000142 PMID:1544211 ; - oboInOwl:hasDbXref UMLS:C1844864 ; - oboInOwl:hasExactSynonym "charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita" . + oboInOwl:hasExactSynonym "charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita" ; + skos:exactMatch UMLS:C1844864 . OMIM:302900 a owl:Class ; rdfs:label "charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined" ; IAO:0000142 PMID:3016222 ; - oboInOwl:hasDbXref UMLS:C1844863 ; - oboInOwl:hasExactSynonym "charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined" . + oboInOwl:hasExactSynonym "charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined" ; + skos:exactMatch UMLS:C1844863 . OMIM:302905 a owl:Class ; rdfs:label "abruzzo-erickson syndrome" ; @@ -106700,10 +109418,10 @@ OMIM:302905 a owl:Class ; PMID:3565473, PMID:3570680, PMID:839509 ; - oboInOwl:hasDbXref UMLS:C1844862 ; oboInOwl:hasExactSynonym "ABERS", "abruzzo-erickson syndrome", "charge-like syndrome, X-linked" ; + skos:exactMatch UMLS:C1844862 ; biolink:category biolink:Disease . OMIM:302910 a owl:Class ; @@ -106723,13 +109441,14 @@ OMIM:302910 a owl:Class ; PMID:9415477 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:300114 ; - oboInOwl:hasDbXref UMLS:C1413453 ; oboInOwl:hasExactSynonym "CLCN4", "chloride channel 4", "chloride channel, voltage-gated, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1183 ; - skos:exactMatch HGNC_symbol:CLCN4 ; + skos:exactMatch UMLS:C1413453, + HGNC:2022, + HGNC_symbol:CLCN4 ; biolink:category biolink:Gene . OMIM:302920 a owl:Class ; @@ -106777,13 +109496,13 @@ OMIM:302960 a owl:Class ; PMID:8921395, PMID:9250864, PMID:9288105 ; - oboInOwl:hasDbXref UMLS:C0282102 ; oboInOwl:hasExactSynonym "CDPX2", "cdpxd", "chondrodysplasia punctata 2, X-linked dominant", "conradi-hunermann syndrome", "conradi-hunermann-happle syndrome", "happle syndrome" ; + skos:exactMatch UMLS:C0282102 ; biolink:category biolink:Disease . OMIM:303110 a owl:Class ; @@ -106797,9 +109516,9 @@ OMIM:303110 a owl:Class ; PMID:3476958, PMID:7258279 ; RO:0002525 CHR:9606chrXq21 ; - oboInOwl:hasDbXref UMLS:C3551019 ; oboInOwl:hasExactSynonym "choroideremia, deafness, and mental retardation", "chromosome xq21 deletion syndrome" ; + skos:exactMatch UMLS:C3551019 ; biolink:category biolink:Disease . OMIM:303600 a owl:Class ; @@ -106848,9 +109567,9 @@ OMIM:303600 a owl:Class ; PMID:9719387, PMID:9744638, PMID:9832033 ; - oboInOwl:hasDbXref UMLS:C0265252 ; oboInOwl:hasExactSynonym "CLS", "coffin-lowry syndrome" ; + skos:exactMatch UMLS:C0265252 ; biolink:category biolink:Disease . OMIM:303630 a owl:Class ; @@ -106891,13 +109610,14 @@ OMIM:303630 a owl:Class ; PMID:9195222 ; RO:0002525 CHR:9606chrXq22.3 ; RO:0003303 OMIM:301050 ; - oboInOwl:hasDbXref UMLS:C1413586 ; oboInOwl:hasExactSynonym "COL4A5", "collagen of basement membrane, alpha-5 chain", "collagen, iia iv, alpha-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1287 ; - skos:exactMatch HGNC_symbol:COL4A5 ; + skos:exactMatch UMLS:C1413586, + HGNC:2207, + HGNC_symbol:COL4A5 ; biolink:category biolink:Gene . OMIM:303631 a owl:Class ; @@ -106913,21 +109633,22 @@ OMIM:303631 a owl:Class ; PMID:9463311 ; RO:0002525 CHR:9606chrXq22.3 ; RO:0003303 OMIM:300914 ; - oboInOwl:hasDbXref UMLS:C1332775 ; oboInOwl:hasExactSynonym "COL4A6", "collagen of basement membrane, alpha-6", "collagen, iia iv, alpha-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1288 ; - skos:exactMatch HGNC_symbol:COL4A6 ; + skos:exactMatch UMLS:C1332775, + HGNC:2208, + HGNC_symbol:COL4A6 ; biolink:category biolink:Gene . OMIM:303650 a owl:Class ; rdfs:label "colonic atresia" ; IAO:0000142 PMID:10756344, PMID:7264804 ; - oboInOwl:hasDbXref UMLS:C0266190 ; - oboInOwl:hasExactSynonym "colonic atresia" . + oboInOwl:hasExactSynonym "colonic atresia" ; + skos:exactMatch UMLS:C0266190 . OMIM:303700 a owl:Class ; rdfs:label "blue cone monochromacy" ; @@ -106944,14 +109665,14 @@ OMIM:303700 a owl:Class ; PMID:2888453, PMID:8213841, PMID:8792812 ; - oboInOwl:hasDbXref UMLS:C0339537, - UMLS:C3887937 ; oboInOwl:hasExactSynonym "BCM", "blue cone monochromacy", "blue cone monochromatism", "colorblindness, blue-mono-cone-monochromatic iia", "cone dystrophy 5, X-linked" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C0339537, + UMLS:C3887937 ; biolink:category biolink:Disease . OMIM:304000 a owl:Class ; @@ -106975,19 +109696,19 @@ OMIM:304020 a owl:Class ; PMID:8288262, PMID:9199568, PMID:9443860 ; - oboInOwl:hasDbXref UMLS:C1844776, - UMLS:C1844777 ; oboInOwl:hasExactSynonym "CORDX1", "cone dystrophy 1, X-linked", "cone-rod dystrophy, x-linked, 1" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1844776, + UMLS:C1844777 ; biolink:category biolink:Disease . OMIM:304030 a owl:Class ; rdfs:label "cone dystrophy, x-linked, with tapetal-like sheen" ; IAO:0000142 PMID:3489456 ; - oboInOwl:hasDbXref UMLS:C1844775 ; - oboInOwl:hasExactSynonym "cone dystrophy, x-linked, with tapetal-like sheen" . + oboInOwl:hasExactSynonym "cone dystrophy, x-linked, with tapetal-like sheen" ; + skos:exactMatch UMLS:C1844775 . OMIM:304040 a owl:Class ; rdfs:label "GJB1" ; @@ -107036,7 +109757,6 @@ OMIM:304040 a owl:Class ; PMID:9888385 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:302800 ; - oboInOwl:hasDbXref UMLS:C1415076 ; oboInOwl:hasExactSynonym "GJB1", "connexin 32", "gap junction protein, 32-kd", @@ -107044,7 +109764,9 @@ OMIM:304040 a owl:Class ; "liver connexin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2705 ; - skos:exactMatch HGNC_symbol:GJB1 ; + skos:exactMatch UMLS:C1415076, + HGNC:4283, + HGNC_symbol:GJB1 ; biolink:category biolink:Gene . OMIM:304100 a owl:Class ; @@ -107053,8 +109775,8 @@ OMIM:304100 a owl:Class ; PMID:1481821, PMID:16650080, PMID:6682447 ; - oboInOwl:hasDbXref UMLS:C1839909 ; oboInOwl:hasExactSynonym "corpus callosum, partial agenesis of, X-linked" ; + skos:exactMatch UMLS:C1839909 ; biolink:category biolink:Disease . OMIM:304120 a owl:Class ; @@ -107082,13 +109804,13 @@ OMIM:304120 a owl:Class ; PMID:896356, PMID:9409862, PMID:975599 ; - oboInOwl:hasDbXref UMLS:C1844696 ; oboInOwl:hasExactSynonym "OPD2", "cranioorodigital syndrome", "faciopalatoosseous syndrome", "opd 2 syndrome", "opd syndrome 2", "otopalatodigital syndrome, iia 2" ; + skos:exactMatch UMLS:C1844696 ; biolink:category biolink:Disease . OMIM:304150 a owl:Class ; @@ -107108,20 +109830,20 @@ OMIM:304150 a owl:Class ; PMID:9111998, PMID:953234, PMID:9556668 ; - oboInOwl:hasDbXref UMLS:C0268353 ; oboInOwl:hasExactSynonym "OHS", "cutis laxa, x-linked, formerly", "eds ix, formerly", "eds9, formerly", "ehlers-danlos syndrome, occipital horn type, formerly", "occipital horn syndrome" ; + skos:exactMatch UMLS:C0268353 ; biolink:category biolink:Disease . OMIM:304200 a owl:Class ; rdfs:label "cutis verticis gyrata, thyroid aplasia, and mental retardation" ; IAO:0000142 PMID:14346081 ; - oboInOwl:hasDbXref UMLS:C0795848 ; - oboInOwl:hasExactSynonym "cutis verticis gyrata, thyroid aplasia, and mental retardation" . + oboInOwl:hasExactSynonym "cutis verticis gyrata, thyroid aplasia, and mental retardation" ; + skos:exactMatch UMLS:C0795848 . OMIM:304300 a owl:Class ; rdfs:label "cyanide, inability to smell" ; @@ -107129,17 +109851,17 @@ OMIM:304300 a owl:Class ; PMID:4299719, PMID:5715213, PMID:6058297 ; - oboInOwl:hasDbXref UMLS:C1844681 ; - oboInOwl:hasExactSynonym "cyanide, inability to smell" . + oboInOwl:hasExactSynonym "cyanide, inability to smell" ; + skos:exactMatch UMLS:C1844681 . OMIM:304350 a owl:Class ; rdfs:label "deafness-hypogonadism syndrome" ; IAO:0000142 PMID:1609803, PMID:1683204, PMID:6819099 ; - oboInOwl:hasDbXref UMLS:C1844680 ; oboInOwl:hasExactSynonym "deafness-hypogonadism syndrome", - "dhs" . + "dhs" ; + skos:exactMatch UMLS:C1844680 . OMIM:304600 a owl:Class ; IAO:0100001 OMIM:304590 ; @@ -107178,25 +109900,25 @@ OMIM:304800 a owl:Class ; PMID:8401502, PMID:8479490, PMID:9329382 ; - oboInOwl:hasDbXref UMLS:C1563705 ; oboInOwl:hasExactSynonym "NDI1", "diabetes insipidus, nephrogenic, iia 1", "diabetes insipidus, nephrogenic, 1, X-linked", "ndi" ; + skos:exactMatch UMLS:C1563705 ; biolink:category biolink:Disease . OMIM:304900 a owl:Class ; rdfs:label "diabetes insipidus, neurohypophyseal, X-linked" ; IAO:0000142 PMID:14361390, PMID:6058149 ; - oboInOwl:hasDbXref UMLS:C0687720 ; - oboInOwl:hasExactSynonym "diabetes insipidus, neurohypophyseal, X-linked" . + oboInOwl:hasExactSynonym "diabetes insipidus, neurohypophyseal, X-linked" ; + skos:exactMatch UMLS:C0687720 . OMIM:304950 a owl:Class ; rdfs:label "dyggve-melchior-clausen syndrome, X-linked" ; IAO:0000142 PMID:7192195 ; - oboInOwl:hasDbXref UMLS:C1844654 ; - oboInOwl:hasExactSynonym "dyggve-melchior-clausen syndrome, X-linked" . + oboInOwl:hasExactSynonym "dyggve-melchior-clausen syndrome, X-linked" ; + skos:exactMatch UMLS:C1844654 . OMIM:304990 a owl:Class ; owl:deprecated true . @@ -107271,7 +109993,6 @@ OMIM:305100 a owl:Class ; PMID:9371801, PMID:9419891, PMID:9683615 ; - oboInOwl:hasDbXref UMLS:C0162359 ; oboInOwl:hasExactSynonym "XHED", "christ-siemens-touraine syndrome", "cst syndrome", @@ -107283,6 +110004,7 @@ OMIM:305100 a owl:Class ; "eda1", "xlhed" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C0162359 ; biolink:category biolink:Disease . OMIM:305200 a owl:Class ; @@ -107296,10 +110018,10 @@ OMIM:305300 a owl:Class ; OMIM:305350 a owl:Class ; rdfs:label "epidermodysplasia verruciformis, X-linked" ; IAO:0000142 PMID:2990354 ; - oboInOwl:hasDbXref UMLS:C1844589 ; oboInOwl:hasExactSynonym "EDV2", "edvx", - "epidermodysplasia verruciformis, X-linked" . + "epidermodysplasia verruciformis, X-linked" ; + skos:exactMatch UMLS:C1844589 . OMIM:305360 a owl:Class ; rdfs:label "MPP1" ; @@ -107311,14 +110033,15 @@ OMIM:305360 a owl:Class ; PMID:8824805, PMID:8954807, PMID:9109443 ; - oboInOwl:hasDbXref UMLS:C1334525 ; oboInOwl:hasExactSynonym "MPP1", "erythrocyte membrane protein p55", "membrane protein, palmitoylated 1", "palmitoylated erythrocyte membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4354 ; - skos:exactMatch HGNC_symbol:MPP1 ; + skos:exactMatch UMLS:C1334525, + HGNC:7219, + HGNC_symbol:MPP1 ; biolink:category biolink:Gene . OMIM:305370 a owl:Class ; @@ -107337,7 +110060,6 @@ OMIM:305370 a owl:Class ; PMID:3839290, PMID:3903517, PMID:9931441 ; - oboInOwl:hasDbXref UMLS:C1367459 ; oboInOwl:hasExactSynonym "TIMP1", "collagenase inhibitor, human", "erythroid potentiating activity", @@ -107345,7 +110067,9 @@ OMIM:305370 a owl:Class ; "tissue inhibitor of metalloproteinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7076 ; - skos:exactMatch HGNC_symbol:TIMP1 ; + skos:exactMatch UMLS:C1367459, + HGNC:11820, + HGNC_symbol:TIMP1 ; biolink:category biolink:Gene . OMIM:305371 a owl:Class ; @@ -107403,7 +110127,6 @@ OMIM:305371 a owl:Class ; PMID:9482838 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300367 ; - oboInOwl:hasDbXref UMLS:C1333663 ; oboInOwl:hasExactSynonym "GATA1", "erythroid transcription factor 1", "gata-binding protein 1", @@ -107411,7 +110134,9 @@ OMIM:305371 a owl:Class ; "transcription factor gata1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2623 ; - skos:exactMatch HGNC_symbol:GATA1 ; + skos:exactMatch UMLS:C1333663, + HGNC:4170, + HGNC_symbol:GATA1 ; biolink:category biolink:Gene . OMIM:305390 a owl:Class ; @@ -107425,13 +110150,13 @@ OMIM:305390 a owl:Class ; PMID:8457509, PMID:9299244, PMID:95062 ; - oboInOwl:hasDbXref UMLS:C1844579 ; oboInOwl:hasExactSynonym "EVR2", "evrx", "exudative vitreoretinopathy 2, X-linked", "exudative vitreoretinopathy, familial, 2", "fevr, X-linked" ; rdfs:subClassOf OMIMPS:133780 ; + skos:exactMatch UMLS:C1844579 ; biolink:category biolink:Disease . OMIM:305423 a owl:Class ; @@ -107441,7 +110166,6 @@ OMIM:305423 a owl:Class ; PMID:1688823, PMID:2110545, PMID:29466333 ; - oboInOwl:hasDbXref UMLS:C1539373 ; oboInOwl:hasExactSynonym "F8A1", "coagulation factor viii-associated protein 1", "dxs522e", @@ -107449,25 +110173,27 @@ OMIM:305423 a owl:Class ; "hap40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8263 ; - skos:exactMatch HGNC_symbol:F8A1 ; + skos:exactMatch UMLS:C1539373, + HGNC:3547, + HGNC_symbol:F8A1 ; biolink:category biolink:Gene . OMIM:305424 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10369875, PMID:1427887 ; - oboInOwl:hasDbXref UMLS:C1366370 ; oboInOwl:hasExactSynonym "dxs1253e", "f8b", "factor viii-associated gene 2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1366370 ; biolink:category biolink:Gene . OMIM:305550 a owl:Class ; rdfs:label "fingerprint body myopathy" ; IAO:0000142 PMID:184767 ; - oboInOwl:hasDbXref UMLS:C1844560 ; - oboInOwl:hasExactSynonym "fingerprint body myopathy" . + oboInOwl:hasExactSynonym "fingerprint body myopathy" ; + skos:exactMatch UMLS:C1844560 . OMIM:305620 a owl:Class ; rdfs:label "frontometaphyseal dysplasia 1" ; @@ -107488,11 +110214,11 @@ OMIM:305620 a owl:Class ; PMID:7645585, PMID:9375915, PMID:998829 ; - oboInOwl:hasDbXref UMLS:C4281559 ; oboInOwl:hasExactSynonym "FMD1", "fmd", "frontometaphyseal dysplasia 1" ; rdfs:subClassOf OMIMPS:305620 ; + skos:exactMatch UMLS:C4281559 ; biolink:category biolink:Disease . OMIM:305645 a owl:Class ; @@ -107511,13 +110237,14 @@ OMIM:305660 a owl:Class ; PMID:2561974, PMID:2574000, PMID:8391122 ; - oboInOwl:hasDbXref UMLS:C1414910 ; oboInOwl:hasExactSynonym "GABRA3", "gaba-a receptor, alpha-3 polypeptide", "gamma-aminobutyric acid receptor, alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2556 ; - skos:exactMatch HGNC_symbol:GABRA3 ; + skos:exactMatch UMLS:C1414910, + HGNC:4077, + HGNC_symbol:GABRA3 ; biolink:category biolink:Gene . OMIM:305670 a owl:Class ; @@ -107534,19 +110261,20 @@ OMIM:305670 a owl:Class ; PMID:8406441, PMID:9097046, PMID:9259269 ; - oboInOwl:hasDbXref UMLS:C1415314 ; oboInOwl:hasExactSynonym "GRPR", "gastrin-releasing peptide receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2925 ; - skos:exactMatch HGNC_symbol:GRPR ; + skos:exactMatch UMLS:C1415314, + HGNC:4609, + HGNC_symbol:GRPR ; biolink:category biolink:Gene . OMIM:305690 a owl:Class ; rdfs:label "genitourinary tract anomalies" ; IAO:0000142 PMID:1619634 ; - oboInOwl:hasDbXref UMLS:C1844502 ; - oboInOwl:hasExactSynonym "genitourinary tract anomalies" . + oboInOwl:hasExactSynonym "genitourinary tract anomalies" ; + skos:exactMatch UMLS:C1844502 . OMIM:305700 a owl:Class ; rdfs:label "spermatogenic failure, x-linked, 1" ; @@ -107556,14 +110284,14 @@ OMIM:305700 a owl:Class ; PMID:16888075, PMID:17121659, PMID:7446525 ; - oboInOwl:hasDbXref UMLS:C1384583, - ORPHA:399805 ; oboInOwl:hasExactSynonym "SPGFX1", "del castillo syndrome", "germinal cell aplasia", "sertoli cell-only syndrome", "spermatogenic failure, x-linked, 1" ; - rdfs:subClassOf OMIMPS:258150 . + rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C1384583, + ORPHA:399805 . OMIM:305800 a owl:Class ; rdfs:label "membranoproliferative glomerulonephritis, X-linked" ; @@ -107572,9 +110300,9 @@ OMIM:305800 a owl:Class ; PMID:5143573, PMID:7261483, PMID:844227 ; - oboInOwl:hasDbXref UMLS:C1844501 ; oboInOwl:hasExactSynonym "membranoproliferative glomerulonephritis, X-linked", - "mesangiocapillary glomerulonephritis, X-linked" . + "mesangiocapillary glomerulonephritis, X-linked" ; + skos:exactMatch UMLS:C1844501 . OMIM:305900 a owl:Class ; rdfs:label "G6PD" ; @@ -107901,12 +110629,13 @@ OMIM:305900 a owl:Class ; PMID:9746794 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1333652 ; oboInOwl:hasExactSynonym "G6PD", "glucose-6-phosphate dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2539 ; - skos:exactMatch HGNC_symbol:G6PD ; + skos:exactMatch UMLS:C1333652, + HGNC:4057, + HGNC_symbol:G6PD ; biolink:category biolink:Gene . OMIM:305910 a owl:Class ; @@ -107930,24 +110659,25 @@ OMIM:305915 a owl:Class ; PMID:8464923 ; RO:0002525 CHR:9606chrXq25 ; RO:0003303 OMIM:300699 ; - oboInOwl:hasDbXref UMLS:C1333710, - UMLS:C5436947 ; oboInOwl:hasExactSynonym "GRIA3", "glurc", "glutamate receptor 3", "glutamate receptor, ionotropic, ampa 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2892 ; - skos:exactMatch HGNC_symbol:GRIA3 ; + skos:exactMatch UMLS:C1333710, + UMLS:C5436947, + HGNC:4573, + HGNC_symbol:GRIA3 ; biolink:category biolink:Gene . OMIM:305920 a owl:Class ; rdfs:label "glutamyl ribose-5-phosphate storage disease" ; IAO:0000142 PMID:6693374, PMID:6738601 ; - oboInOwl:hasDbXref UMLS:C1844440 ; oboInOwl:hasExactSynonym "adp-ribose protein hydrolase deficiency", - "glutamyl ribose-5-phosphate storage disease" . + "glutamyl ribose-5-phosphate storage disease" ; + skos:exactMatch UMLS:C1844440 . OMIM:305980 a owl:Class ; IAO:0100001 OMIM:138140 ; @@ -107963,12 +110693,15 @@ OMIM:305990 a owl:Class ; PMID:3037383, PMID:8973915, PMID:9674912 ; - oboInOwl:hasDbXref UMLS:C1415108 ; + RO:0002525 CHR:9606chrXp22.2 ; + RO:0003303 OMIM:301076 ; oboInOwl:hasExactSynonym "GLRA2", "glycine receptor, alpha-2 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2742 ; - skos:exactMatch HGNC_symbol:GLRA2 ; + skos:exactMatch UMLS:C1415108, + HGNC:4327, + HGNC_symbol:GLRA2 ; biolink:category biolink:Gene . OMIM:306100 a owl:Class ; @@ -107998,32 +110731,34 @@ OMIM:306250 a owl:Class ; PMID:8225310 ; RO:0002525 CHR:9606chrXp22.33 ; RO:0003303 OMIM:300770 ; - oboInOwl:hasDbXref UMLS:C1413750 ; oboInOwl:hasExactSynonym "CSF2RA", "colony-stimulating factor 2 receptor, alpha", "granulocyte-macrophage colony-stimulating factor receptor, low affinity, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1438 ; - skos:exactMatch HGNC_symbol:CSF2RA ; + skos:exactMatch UMLS:C1413750, + HGNC:2435, + HGNC_symbol:CSF2RA ; biolink:category biolink:Gene . OMIM:306300 a owl:Class ; rdfs:label "granulomas, congenital cerebral" ; IAO:0000142 PMID:4286692 ; - oboInOwl:hasDbXref UMLS:C1844406 ; - oboInOwl:hasExactSynonym "granulomas, congenital cerebral" . + oboInOwl:hasExactSynonym "granulomas, congenital cerebral" ; + skos:exactMatch UMLS:C1844406 . OMIM:306480 a owl:Class ; rdfs:label "HDHD1A" ; IAO:0000142 PMID:1284467 ; - oboInOwl:hasDbXref UMLS:C1539652 ; oboInOwl:hasExactSynonym "HDHD1A", "dxf68s1e", "gs1 gene", "haloacid dehalogenase-like hydrolase domain-containing 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8226 ; - skos:exactMatch HGNC_symbol:PUDP ; + skos:exactMatch UMLS:C1539652, + HGNC:16818, + HGNC_symbol:PUDP ; biolink:category biolink:Gene . OMIM:306500 a owl:Class ; @@ -108172,21 +110907,21 @@ OMIM:306700 a owl:Class ; PMID:9042915, PMID:919416, PMID:9840909 ; - oboInOwl:hasDbXref UMLS:C0019069, + oboInOwl:hasExactSynonym "HEMA", + "hemophilia a", + "hemophilia, classic" ; + skos:exactMatch UMLS:C0019069, ORPHA:169802, ORPHA:169805, ORPHA:169808, ORPHA:177926, ORPHA:98878 ; - oboInOwl:hasExactSynonym "HEMA", - "hemophilia a", - "hemophilia, classic" ; biolink:category biolink:Disease . OMIM:306800 a owl:Class ; rdfs:label "hemophilia a with vascular abnormality" ; - oboInOwl:hasDbXref UMLS:C1844137 ; - oboInOwl:hasExactSynonym "hemophilia a with vascular abnormality" . + oboInOwl:hasExactSynonym "hemophilia a with vascular abnormality" ; + skos:exactMatch UMLS:C1844137 . OMIM:306900 a owl:Class ; rdfs:label "hemophilia B" ; @@ -108311,7 +111046,6 @@ OMIM:306900 a owl:Class ; PMID:9639513, PMID:9840909, PMID:9883840 ; - oboInOwl:hasDbXref UMLS:C0008533 ; oboInOwl:hasExactSynonym "HEMB", "christmas disease", "f9 deficiency", @@ -108320,27 +111054,28 @@ OMIM:306900 a owl:Class ; "hemophilia B leyden", "hemophilia b(m)", "plasma thromboplastin component deficiency" ; + skos:exactMatch UMLS:C0008533 ; biolink:category biolink:Disease . OMIM:306930 a owl:Class ; rdfs:label "hemopoietic proliferation" ; IAO:0000142 PMID:472761 ; - oboInOwl:hasDbXref UMLS:C1844026 ; - oboInOwl:hasExactSynonym "hemopoietic proliferation" . + oboInOwl:hasExactSynonym "hemopoietic proliferation" ; + skos:exactMatch UMLS:C1844026 . OMIM:306950 a owl:Class ; rdfs:label "hernia, anterior diaphragmatic" ; IAO:0000142 PMID:519894 ; - oboInOwl:hasDbXref UMLS:C1844025 ; - oboInOwl:hasExactSynonym "hernia, anterior diaphragmatic" . + oboInOwl:hasExactSynonym "hernia, anterior diaphragmatic" ; + skos:exactMatch UMLS:C1844025 . OMIM:306960 a owl:Class ; rdfs:label "hhhh syndrome" ; IAO:0000142 PMID:20949603, PMID:561341 ; - oboInOwl:hasDbXref UMLS:C1844019 ; oboInOwl:hasExactSynonym "hereditary hemihypotrophy hemiparesis hemiathetosis syndrome", "hhhh syndrome" ; + skos:exactMatch UMLS:C1844019 ; biolink:category biolink:Disease . OMIM:306970 a owl:Class ; @@ -108350,15 +111085,15 @@ OMIM:306970 a owl:Class ; OMIM:306980 a owl:Class ; rdfs:label "hirschsprung disease with iia d brachydactyly" ; IAO:0000142 PMID:6823428 ; - oboInOwl:hasDbXref UMLS:C1844017 ; - oboInOwl:hasExactSynonym "hirschsprung disease with iia d brachydactyly" . + oboInOwl:hasExactSynonym "hirschsprung disease with iia d brachydactyly" ; + skos:exactMatch UMLS:C1844017 . OMIM:306990 a owl:Class ; rdfs:label "holoprosencephaly with fetal akinesia/hypokinesia sequence" ; IAO:0000142 PMID:3211858, PMID:3321025 ; - oboInOwl:hasDbXref UMLS:C1844016 ; - oboInOwl:hasExactSynonym "holoprosencephaly with fetal akinesia/hypokinesia sequence" . + oboInOwl:hasExactSynonym "holoprosencephaly with fetal akinesia/hypokinesia sequence" ; + skos:exactMatch UMLS:C1844016 . OMIM:306995 a owl:Class ; rdfs:label "homosexuality 1" ; @@ -108378,10 +111113,10 @@ OMIM:306995 a owl:Class ; PMID:8439243, PMID:9156085 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C1415621 ; oboInOwl:hasExactSynonym "HMS1", "homosexuality 1", - "sexual orientation, male" . + "sexual orientation, male" ; + skos:exactMatch UMLS:C1415621 . OMIM:307000 a owl:Class ; rdfs:label "hydrocephalus due to congenital stenosis of aqueduct of sylvius" ; @@ -108419,8 +111154,6 @@ OMIM:307000 a owl:Class ; PMID:8474107, PMID:9279760, PMID:991665 ; - oboInOwl:hasDbXref UMLS:C0265216, - UMLS:C1844006 ; oboInOwl:hasExactSynonym "HSAS", "aqueductal stenosis, X-linked", "hsas1", @@ -108428,6 +111161,8 @@ OMIM:307000 a owl:Class ; "hydrocephalus, X-linked", "hydrocephalus, x-linked, with congenital idiopathic intestinal pseudoobstruction" ; rdfs:subClassOf OMIMPS:236600 ; + skos:exactMatch UMLS:C0265216, + UMLS:C1844006 ; biolink:category biolink:Disease . OMIM:307010 a owl:Class ; @@ -108435,8 +111170,8 @@ OMIM:307010 a owl:Class ; IAO:0000142 PMID:1785627, PMID:657584, PMID:6846731 ; - oboInOwl:hasDbXref UMLS:C1844005 ; - oboInOwl:hasExactSynonym "hydrocephalus with cerebellar agenesis" . + oboInOwl:hasExactSynonym "hydrocephalus with cerebellar agenesis" ; + skos:exactMatch UMLS:C1844005 . OMIM:307150 a owl:Class ; rdfs:label "hypertrichosis, congenital generalized" ; @@ -108449,12 +111184,12 @@ OMIM:307150 a owl:Class ; PMID:7663516, PMID:7889653 ; RO:0002525 CHR:9606chrXq27.1 ; - oboInOwl:hasDbXref UMLS:C1855900 ; oboInOwl:hasExactSynonym "HTC2", "cgh", "chromosome xq27.1 interchromosomal insertion syndrome", "hcg", "hypertrichosis, congenital generalized" ; + skos:exactMatch UMLS:C1855900 ; biolink:category biolink:Disease . OMIM:307300 a owl:Class ; @@ -108463,8 +111198,8 @@ OMIM:307300 a owl:Class ; OMIM:307500 a owl:Class ; rdfs:label "hypogonadism, male, with mental retardation and skeletal anomalies" ; - oboInOwl:hasDbXref UMLS:C1843994 ; - oboInOwl:hasExactSynonym "hypogonadism, male, with mental retardation and skeletal anomalies" . + oboInOwl:hasExactSynonym "hypogonadism, male, with mental retardation and skeletal anomalies" ; + skos:exactMatch UMLS:C1843994 . OMIM:307600 a owl:Class ; IAO:0100001 OMIM:602014 ; @@ -108484,10 +111219,10 @@ OMIM:307700 a owl:Class ; PMID:8981958, PMID:9832036 ; RO:0002525 CHR:9606chrXq27.1 ; - oboInOwl:hasDbXref UMLS:C0342344 ; oboInOwl:hasExactSynonym "HYPX", "hypoparathyroidism, X-linked", "parathyroid glands, agenesis of" ; + skos:exactMatch UMLS:C0342344 ; biolink:category biolink:Disease . OMIM:307810 a owl:Class ; @@ -108501,8 +111236,8 @@ OMIM:307830 a owl:Class ; PMID:476267, PMID:6877462, PMID:7125770 ; - oboInOwl:hasDbXref UMLS:C1843972 ; - oboInOwl:hasExactSynonym "hypouricemia, familial renal, due to tubular hypersecretion" . + oboInOwl:hasExactSynonym "hypouricemia, familial renal, due to tubular hypersecretion" ; + skos:exactMatch UMLS:C1843972 . OMIM:308000 a owl:Class ; rdfs:label "HPRT1" ; @@ -108643,7 +111378,13 @@ OMIM:308000 a owl:Class ; PMID:8923379 ; RO:0002525 CHR:9606chrXq26.2-q26.3 ; RO:0003303 OMIM:300322 ; - oboInOwl:hasDbXref UMLS:C0023374, + oboInOwl:hasExactSynonym "HPRT1", + "hgprt", + "hprt", + "hypoxanthine guanine phosphoribosyltransferase 1" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:3251 ; + skos:exactMatch UMLS:C0023374, UMLS:C0268117, UMLS:C1415701, UMLS:C1845892, @@ -108676,14 +111417,9 @@ OMIM:308000 a owl:Class ; UMLS:C4311002, UMLS:C4311003, UMLS:C4311004, - UMLS:C4311005 ; - oboInOwl:hasExactSynonym "HPRT1", - "hgprt", - "hprt", - "hypoxanthine guanine phosphoribosyltransferase 1" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:3251 ; - skos:exactMatch HGNC_symbol:HPRT1 ; + UMLS:C4311005, + HGNC:5157, + HGNC_symbol:HPRT1 ; biolink:category biolink:Gene . OMIM:308050 a owl:Class ; @@ -108702,11 +111438,11 @@ OMIM:308050 a owl:Class ; PMID:6873941, PMID:7408908, PMID:8882402 ; - oboInOwl:hasDbXref UMLS:C0265267, - ORPHA:139 ; oboInOwl:hasExactSynonym "child syndrome", "congenital hemidysplasia with ichthyosiform erythroderma and limb defects", "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs" ; + skos:exactMatch UMLS:C0265267, + ORPHA:139 ; biolink:category biolink:Disease . OMIM:308200 a owl:Class ; @@ -108715,11 +111451,11 @@ OMIM:308200 a owl:Class ; PMID:182300, PMID:4250, PMID:6580169 ; - oboInOwl:hasDbXref UMLS:C1839989, - ORPHA:431 ; oboInOwl:hasExactSynonym "ichthyosis and male hypogonadism", "rud syndrome", - "ruds" . + "ruds" ; + skos:exactMatch UMLS:C1839989, + ORPHA:431 . OMIM:308210 a owl:Class ; owl:deprecated true . @@ -108728,9 +111464,9 @@ OMIM:308220 a owl:Class ; rdfs:label "immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein" ; IAO:0000142 PMID:6499285, PMID:6547160 ; - oboInOwl:hasDbXref UMLS:C1839982 ; oboInOwl:hasExactSynonym "gpl115 deficiency", - "immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein" . + "immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein" ; + skos:exactMatch UMLS:C1839982 . OMIM:308250 a owl:Class ; rdfs:label "immunoglobulin m, level of" ; @@ -108741,23 +111477,23 @@ OMIM:308250 a owl:Class ; PMID:5019789, PMID:570466, PMID:690472 ; - oboInOwl:hasDbXref UMLS:C1839966 ; oboInOwl:hasExactSynonym "immunoglobulin m, level of" ; + skos:exactMatch UMLS:C1839966 ; biolink:category biolink:Disease . OMIM:308280 a owl:Class ; rdfs:label "impacted teeth, multiple" ; IAO:0000142 PMID:10023236, PMID:6965030 ; - oboInOwl:hasDbXref UMLS:C1839965 ; oboInOwl:hasExactSynonym "impacted teeth, multiple" ; + skos:exactMatch UMLS:C1839965 ; biolink:category biolink:Disease . OMIM:308290 a owl:Class ; rdfs:label "imprinting gene related to retinoblastoma" ; IAO:0000142 PMID:8304343 ; - oboInOwl:hasDbXref UMLS:C1839964 ; - oboInOwl:hasExactSynonym "imprinting gene related to retinoblastoma" . + oboInOwl:hasExactSynonym "imprinting gene related to retinoblastoma" ; + skos:exactMatch UMLS:C1839964 . OMIM:308310 a owl:Class ; IAO:0100001 OMIM:308300 ; @@ -108800,7 +111536,6 @@ OMIM:308380 a owl:Class ; PMID:9921912 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:300400 ; - oboInOwl:hasDbXref UMLS:C1334116 ; oboInOwl:hasExactSynonym "IL2RG", "cd132 antigen", "interleukin 2 receptor, gamma", @@ -108808,7 +111543,9 @@ OMIM:308380 a owl:Class ; "interleukin receptor, gamma-c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3561 ; - skos:exactMatch HGNC_symbol:IL2RG ; + skos:exactMatch UMLS:C1334116, + HGNC:6010, + HGNC_symbol:IL2RG ; biolink:category biolink:Gene . OMIM:308385 a owl:Class ; @@ -108819,13 +111556,14 @@ OMIM:308385 a owl:Class ; PMID:7887951, PMID:8100720, PMID:8213838 ; - oboInOwl:hasDbXref UMLS:C1416408 ; oboInOwl:hasExactSynonym "IL3RA", "cd123 antigen", "interleukin 3 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3563 ; - skos:exactMatch HGNC_symbol:IL3RA ; + skos:exactMatch UMLS:C1416408, + HGNC:6012, + HGNC_symbol:IL3RA ; biolink:category biolink:Gene . OMIM:308400 a owl:Class ; @@ -108833,15 +111571,15 @@ OMIM:308400 a owl:Class ; OMIM:308600 a owl:Class ; rdfs:label "jaundice, familial obstructive, of infancy" ; - oboInOwl:hasDbXref UMLS:C1839927 ; - oboInOwl:hasExactSynonym "jaundice, familial obstructive, of infancy" . + oboInOwl:hasExactSynonym "jaundice, familial obstructive, of infancy" ; + skos:exactMatch UMLS:C1839927 . OMIM:308750 a owl:Class ; rdfs:label "kallmann syndrome with spastic paraplegia" ; IAO:0000142 PMID:6604133 ; - oboInOwl:hasDbXref UMLS:C1839911 ; oboInOwl:hasExactSynonym "kallmann syndrome with spastic paraplegia", - "spastic paraplegia-kallmann syndrome" . + "spastic paraplegia-kallmann syndrome" ; + skos:exactMatch UMLS:C1839911 . OMIM:308800 a owl:Class ; rdfs:label "keratosis follicularis spinulosa decalvans, X-linked" ; @@ -108860,17 +111598,17 @@ OMIM:308800 a owl:Class ; PMID:9228047, PMID:9341865, PMID:9598732 ; - oboInOwl:hasDbXref UMLS:C3887525 ; oboInOwl:hasExactSynonym "KFSDX", "keratosis follicularis spinulosa decalvans cum ophiasi", "keratosis follicularis spinulosa decalvans, X-linked" ; + skos:exactMatch UMLS:C3887525 ; biolink:category biolink:Disease . OMIM:308830 a owl:Class ; rdfs:label "keratosis follicularis, dwarfism, and cerebral atrophy" ; IAO:0000142 PMID:4834251 ; - oboInOwl:hasDbXref UMLS:C1839910 ; - oboInOwl:hasExactSynonym "keratosis follicularis, dwarfism, and cerebral atrophy" . + oboInOwl:hasExactSynonym "keratosis follicularis, dwarfism, and cerebral atrophy" ; + skos:exactMatch UMLS:C1839910 . OMIM:308840 a owl:Class ; rdfs:label "L1CAM" ; @@ -108921,24 +111659,25 @@ OMIM:308840 a owl:Class ; PMID:9832035 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:303350 ; - oboInOwl:hasDbXref UMLS:C1416769 ; oboInOwl:hasExactSynonym "L1CAM", "l1 cell adhesion molecule", "mic5", "neural cell adhesion molecule l1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3897 ; - skos:exactMatch HGNC_symbol:L1CAM ; + skos:exactMatch UMLS:C1416769, + HGNC:6470, + HGNC_symbol:L1CAM ; biolink:category biolink:Gene . OMIM:308850 a owl:Class ; rdfs:label "laryngeal abductor paralysis" ; IAO:0000142 PMID:14172969, PMID:4751313 ; - oboInOwl:hasDbXref UMLS:C0396059 ; oboInOwl:hasExactSynonym "laryngeal abductor paralysis", "plott syndrome", - "vocal cord dysfunction, familial" . + "vocal cord dysfunction, familial" ; + skos:exactMatch UMLS:C0396059 . OMIM:308930 a owl:Class ; IAO:0100001 OMIM:312170 ; @@ -108958,24 +111697,24 @@ OMIM:308940 a owl:Class ; PMID:8356449, PMID:9465897, PMID:9915944 ; - oboInOwl:hasDbXref UMLS:C1839884 ; oboInOwl:hasExactSynonym "DL-ATS", "alport syndrome and diffuse leiomyomatosis", "chromosome xq22.3 centromeric deletion syndrome", "leiomyomatosis, diffuse, with alport syndrome", "leiomyomatosis, esophageal and vulval, with nephropathy" ; + skos:exactMatch UMLS:C1839884 ; biolink:category biolink:Disease . OMIM:308950 a owl:Class ; rdfs:label "lesch-nyhan phenotype with normal hgprt" ; - oboInOwl:hasDbXref UMLS:C1839883 ; - oboInOwl:hasExactSynonym "lesch-nyhan phenotype with normal hgprt" . + oboInOwl:hasExactSynonym "lesch-nyhan phenotype with normal hgprt" ; + skos:exactMatch UMLS:C1839883 . OMIM:308960 a owl:Class ; rdfs:label "leukemia, acute, X-linked" ; IAO:0000142 PMID:453196 ; - oboInOwl:hasDbXref UMLS:C3501854 ; - oboInOwl:hasExactSynonym "leukemia, acute, X-linked" . + oboInOwl:hasExactSynonym "leukemia, acute, X-linked" ; + skos:exactMatch UMLS:C3501854 . OMIM:308980 a owl:Class ; IAO:0100001 OMIM:151660 ; @@ -109007,7 +111746,6 @@ OMIM:309060 a owl:Class ; PMID:8530041 ; RO:0002525 CHR:9606chrXq24 ; RO:0003303 OMIM:300257 ; - oboInOwl:hasDbXref UMLS:C1416790 ; oboInOwl:hasExactSynonym "LAMP2", "cd107b", "lysosomal membrane glycoprotein, 110-kd", @@ -109015,14 +111753,16 @@ OMIM:309060 a owl:Class ; "lysosome-associated membrane protein B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3920 ; - skos:exactMatch HGNC_symbol:LAMP2 ; + skos:exactMatch UMLS:C1416790, + HGNC:6501, + HGNC_symbol:LAMP2 ; biolink:category biolink:Gene . OMIM:309100 a owl:Class ; rdfs:label "macular dystrophy, X-linked" ; IAO:0000142 PMID:13102571 ; - oboInOwl:hasDbXref UMLS:C1839842 ; oboInOwl:hasExactSynonym "macular dystrophy, X-linked" ; + skos:exactMatch UMLS:C1839842 ; biolink:category biolink:Disease . OMIM:309150 a owl:Class ; @@ -109038,10 +111778,10 @@ OMIM:309300 a owl:Class ; PMID:25712132, PMID:2571565, PMID:6849653 ; - oboInOwl:hasDbXref UMLS:C0344530 ; oboInOwl:hasExactSynonym "MGC1", "megalocornea", "mgcn" ; + skos:exactMatch UMLS:C0344530 ; biolink:category biolink:Disease . OMIM:309350 a owl:Class ; @@ -109068,11 +111808,11 @@ OMIM:309350 a owl:Class ; PMID:7158646, PMID:7189217, PMID:8831131 ; - oboInOwl:hasDbXref UMLS:C0025237 ; oboInOwl:hasExactSynonym "MNS", "melnick-needles osteodysplasty", "melnick-needles syndrome", "osteodysplasty of melnick and needles" ; + skos:exactMatch UMLS:C0025237 ; biolink:category biolink:Disease . OMIM:309400 a owl:Class ; @@ -109174,8 +111914,6 @@ OMIM:309400 a owl:Class ; PMID:9668172, PMID:9788559, PMID:9894833 ; - oboInOwl:hasDbXref UMLS:C0022716, - ORPHA:565 ; oboInOwl:hasExactSynonym "MNK", "copper transport disease", "kinky hair disease", @@ -109183,6 +111921,8 @@ OMIM:309400 a owl:Class ; "menkes syndrome", "mk", "steely hair disease" ; + skos:exactMatch UMLS:C0022716, + ORPHA:565 ; biolink:category biolink:Disease . OMIM:309470 a owl:Class ; @@ -109192,8 +111932,8 @@ OMIM:309470 a owl:Class ; OMIM:309480 a owl:Class ; rdfs:label "mental retardation and psoriasis" ; IAO:0000142 PMID:3177453 ; - oboInOwl:hasDbXref UMLS:C3275610 ; - oboInOwl:hasExactSynonym "mental retardation and psoriasis" . + oboInOwl:hasExactSynonym "mental retardation and psoriasis" ; + skos:exactMatch UMLS:C3275610 . OMIM:309490 a owl:Class ; IAO:0100001 OMIM:309580 ; @@ -109211,8 +111951,6 @@ OMIM:309510 a owl:Class ; PMID:18462864, PMID:3177452, PMID:8826464 ; - oboInOwl:hasDbXref UMLS:C0796250, - ORPHA:94083 ; oboInOwl:hasExactSynonym "PRTS", "intellectual developmental disorder, x-linked, syndromic 1", "mental retardation, X-linked 36", @@ -109221,6 +111959,8 @@ OMIM:309510 a owl:Class ; "partington X-linked mental retardation syndrome", "partington syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0796250, + ORPHA:94083 ; biolink:category biolink:Disease . OMIM:309520 a owl:Class ; @@ -109237,13 +111977,13 @@ OMIM:309520 a owl:Class ; PMID:3322000, PMID:6711603, PMID:8267926 ; - oboInOwl:hasDbXref UMLS:C0796022, - ORPHA:776 ; oboInOwl:hasExactSynonym "MRXSLF", "intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia", "lujan-fryns syndrome", "mental retardation, x-linked, with marfanoid habitus, 1" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0796022, + ORPHA:776 ; biolink:category biolink:Disease . OMIM:309540 a owl:Class ; @@ -109414,8 +112154,6 @@ OMIM:309550 a owl:Class ; PMID:9829913 ; RO:0002525 CHR:9606chrXq27.3 ; RO:0003303 OMIM:311360 ; - oboInOwl:hasDbXref UMLS:C1414649, - UMLS:C1414806 ; oboInOwl:hasExactSynonym "FMR1", "fmrp translational regulator 1", "fragile 10 mental retardation protein", @@ -109423,15 +112161,18 @@ OMIM:309550 a owl:Class ; "fragile site, folic acid type, rare, fraxq27.3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2332 ; - skos:exactMatch HGNC_symbol:FMR1 ; + skos:exactMatch UMLS:C1414649, + UMLS:C1414806, + HGNC:3775, + HGNC_symbol:FMR1 ; biolink:category biolink:Gene . OMIM:309560 a owl:Class ; rdfs:label "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" ; IAO:0000142 PMID:23613454, PMID:6221837 ; - oboInOwl:hasDbXref UMLS:C2745996 ; oboInOwl:hasExactSynonym "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" ; + skos:exactMatch UMLS:C2745996 ; biolink:category biolink:Disease . OMIM:309600 a owl:Class ; @@ -109444,8 +112185,8 @@ OMIM:309605 a owl:Class ; OMIM:309640 a owl:Class ; rdfs:label "mental retardation with spastic paraplegia" ; - oboInOwl:hasDbXref UMLS:C1839727 ; - oboInOwl:hasExactSynonym "mental retardation with spastic paraplegia" . + oboInOwl:hasExactSynonym "mental retardation with spastic paraplegia" ; + skos:exactMatch UMLS:C1839727 . OMIM:309645 a owl:Class ; IAO:0100001 OMIM:602111 ; @@ -109462,9 +112203,9 @@ OMIM:309700 a owl:Class ; OMIM:309840 a owl:Class ; rdfs:label "modifier, x-linked, for neurofunctional defects" ; IAO:0000142 PMID:18231125 ; - oboInOwl:hasDbXref UMLS:C1839708 ; oboInOwl:hasExactSynonym "modifier, x-linked, for neurofunctional defects", - "tourette syndrome, modifier of" . + "tourette syndrome, modifier of" ; + skos:exactMatch UMLS:C1839708 . OMIM:309850 a owl:Class ; rdfs:label "MAOA" ; @@ -109511,13 +112252,14 @@ OMIM:309850 a owl:Class ; PMID:9799080 ; RO:0002525 CHR:9606chrXp11.3 ; RO:0003303 OMIM:300615 ; - oboInOwl:hasDbXref UMLS:C1417001 ; oboInOwl:hasExactSynonym "MAOA", "amine oxidase (flavin-containing) a", "monoamine oxidase a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4128 ; - skos:exactMatch HGNC_symbol:MAOA ; + skos:exactMatch UMLS:C1417001, + HGNC:6833, + HGNC_symbol:MAOA ; biolink:category biolink:Gene . OMIM:309860 a owl:Class ; @@ -109542,7 +112284,6 @@ OMIM:309860 a owl:Class ; PMID:8613523, PMID:9326944, PMID:9596006 ; - oboInOwl:hasDbXref UMLS:C1417002 ; oboInOwl:hasExactSynonym "MAOB", "amine oxidase (flavin-containing) B", "mao, brain", @@ -109550,35 +112291,37 @@ OMIM:309860 a owl:Class ; "monoamine oxidase B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4129 ; - skos:exactMatch HGNC_symbol:MAOB ; + skos:exactMatch UMLS:C1417002, + HGNC:6834, + HGNC_symbol:MAOB ; biolink:category biolink:Gene . OMIM:309930 a owl:Class ; rdfs:label "muscular dystrophy, cardiac iia" ; IAO:0000142 PMID:413519 ; - oboInOwl:hasDbXref UMLS:C1442927 ; - oboInOwl:hasExactSynonym "muscular dystrophy, cardiac iia" . + oboInOwl:hasExactSynonym "muscular dystrophy, cardiac iia" ; + skos:exactMatch UMLS:C1442927 . OMIM:309950 a owl:Class ; rdfs:label "muscular dystrophy, hemizygous lethal iia" ; IAO:0000142 PMID:4567289, PMID:6053567, PMID:6873941 ; - oboInOwl:hasDbXref UMLS:C1839671 ; - oboInOwl:hasExactSynonym "muscular dystrophy, hemizygous lethal iia" . + oboInOwl:hasExactSynonym "muscular dystrophy, hemizygous lethal iia" ; + skos:exactMatch UMLS:C1839671 . OMIM:310000 a owl:Class ; rdfs:label "muscular dystrophy, mabry iia" ; IAO:0000142 PMID:5834817 ; - oboInOwl:hasDbXref UMLS:C1839670 ; - oboInOwl:hasExactSynonym "muscular dystrophy, mabry iia" . + oboInOwl:hasExactSynonym "muscular dystrophy, mabry iia" ; + skos:exactMatch UMLS:C1839670 . OMIM:310095 a owl:Class ; rdfs:label "muscular dystrophy, progressive pectorodorsal" ; IAO:0000142 PMID:2248287 ; - oboInOwl:hasDbXref UMLS:C1839669 ; oboInOwl:hasExactSynonym "muscular dystrophy, progressive pectorodorsal", - "muscular dystrophy, progressive, involving shoulder girdle and back" . + "muscular dystrophy, progressive, involving shoulder girdle and back" ; + skos:exactMatch UMLS:C1839669 . OMIM:310305 a owl:Class ; IAO:0100001 OMIM:601415 ; @@ -109589,27 +112332,93 @@ OMIM:310310 a owl:Class ; IAO:0000142 PMID:10100857, PMID:1711681, PMID:2541066 ; - oboInOwl:hasDbXref UMLS:C1417526 ; oboInOwl:hasExactSynonym "MYCL2", "mycl-related processed gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4611 ; - skos:exactMatch HGNC_symbol:MYCLP1 ; + skos:exactMatch UMLS:C1417526, + HGNC:7556, + HGNC_symbol:MYCLP1 ; biolink:category biolink:Gene . OMIM:310350 a owl:Class ; rdfs:label "myelolymphatic insufficiency" ; IAO:0000142 PMID:1248491 ; - oboInOwl:hasDbXref UMLS:C1839650 ; oboInOwl:hasExactSynonym "myelolymphatic insufficiency", - "pelger-like anomaly with leukopenia and susceptibility to infections" . + "pelger-like anomaly with leukopenia and susceptibility to infections" ; + skos:exactMatch UMLS:C1839650 . OMIM:310370 a owl:Class ; rdfs:label "myoclonic epilepsy, progressive" ; IAO:0000142 PMID:112032, PMID:5868699 ; - oboInOwl:hasDbXref UMLS:C0751778 ; - oboInOwl:hasExactSynonym "myoclonic epilepsy, progressive" . + oboInOwl:hasExactSynonym "myoclonic epilepsy, progressive" ; + skos:exactMatch UMLS:C0751778 . + +OMIM:310400 a owl:Class ; + rdfs:label "myopathy, centronuclear, X-linked" ; + IAO:0000142 PMID:10323249, + PMID:10466421, + PMID:10502779, + PMID:10714588, + PMID:10726846, + PMID:10790201, + PMID:11456308, + PMID:11552027, + PMID:1168872, + PMID:12391329, + PMID:12707446, + PMID:15690409, + PMID:15883335, + PMID:16157907, + PMID:1641160, + PMID:1822801, + PMID:1824643, + PMID:1867257, + PMID:19197364, + PMID:1972196, + PMID:1972354, + PMID:2279510, + PMID:2352255, + PMID:2352256, + PMID:2357647, + PMID:24569376, + PMID:2670345, + PMID:2994607, + PMID:3605197, + PMID:3652496, + PMID:4075080, + PMID:4136736, + PMID:4230186, + PMID:4954227, + PMID:5478951, + PMID:573609, + PMID:5816884, + PMID:6539297, + PMID:6542063, + PMID:7326611, + PMID:7611280, + PMID:7726166, + PMID:7881289, + PMID:7891372, + PMID:7969799, + PMID:8544184, + PMID:8588581, + PMID:8640223, + PMID:9169146, + PMID:9199578, + PMID:9285787, + PMID:9305655, + PMID:9450905, + PMID:9541111, + PMID:9931531 ; + oboInOwl:hasExactSynonym "CNMX", + "myopathy, centronuclear, X-linked", + "myotubular myopathy 1", + "myotubular myopathy, X-linked" ; + rdfs:subClassOf OMIMPS:160150 ; + skos:exactMatch UMLS:C0410203 ; + biolink:category biolink:Disease . OMIM:310450 a owl:Class ; IAO:0100001 OMIM:159000 ; @@ -109619,9 +112428,9 @@ OMIM:310465 a owl:Class ; rdfs:label "n syndrome" ; IAO:0000142 PMID:1689958, PMID:4216437 ; - oboInOwl:hasDbXref UMLS:C2936859 ; oboInOwl:hasExactSynonym "NSX", - "n syndrome" . + "n syndrome" ; + skos:exactMatch UMLS:C2936859 . OMIM:310468 a owl:Class ; rdfs:label "nephrolithiasis, X-linked recessive, with renal failure" ; @@ -109631,19 +112440,19 @@ OMIM:310468 a owl:Class ; PMID:8559248, PMID:9452994, PMID:9602200 ; - oboInOwl:hasDbXref UMLS:C0403720 ; oboInOwl:hasExactSynonym "XRN", "nephrolithiasis 1", "nephrolithiasis, X-linked recessive, iia 1", "nephrolithiasis, X-linked recessive, with renal failure", "urolithiasis, X-linked recessive, iia 1" ; + skos:exactMatch UMLS:C0403720 ; biolink:category biolink:Disease . OMIM:310470 a owl:Class ; rdfs:label "neuropathy, hereditary sensory, X-linked" ; IAO:0000142 PMID:3866836 ; - oboInOwl:hasDbXref UMLS:C1839602 ; - oboInOwl:hasExactSynonym "neuropathy, hereditary sensory, X-linked" . + oboInOwl:hasExactSynonym "neuropathy, hereditary sensory, X-linked" ; + skos:exactMatch UMLS:C1839602 . OMIM:310490 a owl:Class ; rdfs:label "charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia" ; @@ -109654,8 +112463,6 @@ OMIM:310490 a owl:Class ; PMID:31523922, PMID:3856385, PMID:8666389 ; - oboInOwl:hasDbXref UMLS:C0795910, - ORPHA:101078 ; oboInOwl:hasExactSynonym "CMTX4", "charcot-marie-tooth disease with deafness and mental retardation", "charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia", @@ -109663,31 +112470,33 @@ OMIM:310490 a owl:Class ; "nadmr", "neuropathy, axonal motor-sensory, with deafness and mental retardation" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C0795910, + ORPHA:101078 ; biolink:category biolink:Disease . OMIM:310650 a owl:Class ; rdfs:label "nuclear ribonucleic acid" ; IAO:0000142 PMID:752500 ; - oboInOwl:hasDbXref UMLS:C1839581 ; oboInOwl:hasExactSynonym "nRNA", - "nuclear ribonucleic acid" . + "nuclear ribonucleic acid" ; + skos:exactMatch UMLS:C1839581 . OMIM:310800 a owl:Class ; rdfs:label "nystagmus, myoclonic" ; - oboInOwl:hasDbXref UMLS:C1839579 ; - oboInOwl:hasExactSynonym "nystagmus, myoclonic" . + oboInOwl:hasExactSynonym "nystagmus, myoclonic" ; + skos:exactMatch UMLS:C1839579 . OMIM:310900 a owl:Class ; rdfs:label "occipital hair, white lock of" ; - oboInOwl:hasDbXref UMLS:C1839578 ; - oboInOwl:hasExactSynonym "occipital hair, white lock of" . + oboInOwl:hasExactSynonym "occipital hair, white lock of" ; + skos:exactMatch UMLS:C1839578 . OMIM:310980 a owl:Class ; rdfs:label "omphalocele, X-linked" ; IAO:0000142 PMID:20635337, PMID:434891 ; - oboInOwl:hasDbXref UMLS:C3275625 ; - oboInOwl:hasExactSynonym "omphalocele, X-linked" . + oboInOwl:hasExactSynonym "omphalocele, X-linked" ; + skos:exactMatch UMLS:C3275625 . OMIM:310990 a owl:Class ; IAO:0100001 OMIM:190020 ; @@ -109713,14 +112522,15 @@ OMIM:311030 a owl:Class ; PMID:3281159, PMID:3491366, PMID:3875039 ; - oboInOwl:hasDbXref UMLS:C0812211 ; oboInOwl:hasExactSynonym "MCF2", "mcf.2 cell line-derived transforming sequence", "oncogene dbl", "oncogene mcf2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4168 ; - skos:exactMatch HGNC_symbol:MCF2 ; + skos:exactMatch UMLS:C0812211, + HGNC:6940, + HGNC_symbol:MCF2 ; biolink:category biolink:Gene . OMIM:311100 a owl:Class ; @@ -109728,8 +112538,8 @@ OMIM:311100 a owl:Class ; IAO:0000142 PMID:14174046, PMID:14175627, PMID:14220464 ; - oboInOwl:hasDbXref UMLS:C1839565 ; - oboInOwl:hasExactSynonym "optic atrophy--spastic paraplegia syndrome" . + oboInOwl:hasExactSynonym "optic atrophy--spastic paraplegia syndrome" ; + skos:exactMatch UMLS:C1839565 . OMIM:311150 a owl:Class ; IAO:0100001 OMIM:304700 ; @@ -109775,13 +112585,13 @@ OMIM:311200 a owl:Class ; PMID:9215688, PMID:9249769, PMID:9546832 ; - oboInOwl:hasDbXref UMLS:C1510460 ; oboInOwl:hasExactSynonym "OFD1", "ofds 1", "oral-facial-digital syndrome, iia 1", "orofaciodigital syndrome 1", "papillon-leage and psaume syndrome" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C1510460 ; biolink:category biolink:Disease . OMIM:311240 a owl:Class ; @@ -109789,13 +112599,14 @@ OMIM:311240 a owl:Class ; IAO:0000142 PMID:12618308, PMID:1675195, PMID:3596985 ; - oboInOwl:hasDbXref UMLS:C1823246 ; oboInOwl:hasExactSynonym "TBC1D25", "ornithine aminotransferase-like 1", "tbc1 domain family, member 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4943 ; - skos:exactMatch HGNC_symbol:TBC1D25 ; + skos:exactMatch UMLS:C1823246, + HGNC:8092, + HGNC_symbol:TBC1D25 ; biolink:category biolink:Gene . OMIM:311241 a owl:Class ; @@ -109828,15 +112639,15 @@ OMIM:311300 a owl:Class ; PMID:6019437, PMID:6023901, PMID:6614053 ; - oboInOwl:hasDbXref UMLS:C0265251, - UMLS:C2748918, - UMLS:C2748919 ; oboInOwl:hasExactSynonym "OPD1", "frontootopalatodigital osteodysplasia", "opd 1 syndrome", "opd syndrome 1", "otopalatodigital spectrum disorder", "otopalatodigital syndrome, iia 1" ; + skos:exactMatch UMLS:C0265251, + UMLS:C2748918, + UMLS:C2748919 ; biolink:category biolink:Disease . OMIM:311350 a owl:Class ; @@ -109846,17 +112657,17 @@ OMIM:311350 a owl:Class ; PMID:454358, PMID:6244579, PMID:6324196 ; - oboInOwl:hasDbXref UMLS:C1839502 ; oboInOwl:hasExactSynonym "OUBR", - "ouabain resistance" . + "ouabain resistance" ; + skos:exactMatch UMLS:C1839502 . OMIM:311450 a owl:Class ; rdfs:label "pallister w syndrome" ; IAO:0000142 PMID:10594887, PMID:8287184 ; - oboInOwl:hasDbXref UMLS:C0796110 ; oboInOwl:hasExactSynonym "pallister w syndrome", - "w syndrome" . + "w syndrome" ; + skos:exactMatch UMLS:C0796110 . OMIM:311550 a owl:Class ; rdfs:label "CDK16" ; @@ -109865,14 +112676,15 @@ OMIM:311550 a owl:Class ; PMID:16461467, PMID:7656587, PMID:8088790 ; - oboInOwl:hasDbXref UMLS:C1335197 ; oboInOwl:hasExactSynonym "CDK16", "cyclin-dependent kinase 16", "pctaire protein kinase 1", "pctaire1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5127 ; - skos:exactMatch HGNC_symbol:CDK16 ; + skos:exactMatch UMLS:C1335197, + HGNC:8749, + HGNC_symbol:CDK16 ; biolink:category biolink:Gene . OMIM:311601 a owl:Class ; @@ -109893,14 +112705,15 @@ OMIM:311790 a owl:Class ; PMID:2837207, PMID:2856848, PMID:9119406 ; - oboInOwl:hasDbXref UMLS:C1418487 ; oboInOwl:hasExactSynonym "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1", "PFKFB1", "pfkfb, liver", "pfrx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5207 ; - skos:exactMatch HGNC_symbol:PFKFB1 ; + skos:exactMatch UMLS:C1418487, + HGNC:8872, + HGNC_symbol:PFKFB1 ; biolink:category biolink:Gene . OMIM:311810 a owl:Class ; @@ -109936,12 +112749,13 @@ OMIM:311850 a owl:Class ; PMID:8968763 ; RO:0002525 CHR:9606chrXq22.3 ; RO:0003303 OMIM:300661 ; - oboInOwl:hasDbXref UMLS:C1418954 ; oboInOwl:hasExactSynonym "PRPS1", "phosphoribosylpyrophosphate synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5631 ; - skos:exactMatch HGNC_symbol:PRPS1 ; + skos:exactMatch UMLS:C1418954, + HGNC:9462, + HGNC_symbol:PRPS1 ; biolink:category biolink:Gene . OMIM:311860 a owl:Class ; @@ -109952,12 +112766,13 @@ OMIM:311860 a owl:Class ; PMID:2537655, PMID:2538352, PMID:2822704 ; - oboInOwl:hasDbXref UMLS:C1418957 ; oboInOwl:hasExactSynonym "PRPS2", "phosphoribosylpyrophosphate synthetase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5634 ; - skos:exactMatch HGNC_symbol:PRPS2 ; + skos:exactMatch UMLS:C1418957, + HGNC:9465, + HGNC_symbol:PRPS2 ; biolink:category biolink:Gene . OMIM:311870 a owl:Class ; @@ -109980,19 +112795,20 @@ OMIM:311870 a owl:Class ; PMID:9731190 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:300559 ; - oboInOwl:hasDbXref UMLS:C1418532 ; oboInOwl:hasExactSynonym "PHKA1", "phosphorylase kinase, muscle, alpha-1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5255 ; - skos:exactMatch HGNC_symbol:PHKA1 ; + skos:exactMatch UMLS:C1418532, + HGNC:8925, + HGNC_symbol:PHKA1 ; biolink:category biolink:Gene . OMIM:311895 a owl:Class ; rdfs:label "pierre robin sequence with facial and digital anomalies" ; IAO:0000142 PMID:1897570 ; - oboInOwl:hasDbXref UMLS:C2931064 ; - oboInOwl:hasExactSynonym "pierre robin sequence with facial and digital anomalies" . + oboInOwl:hasExactSynonym "pierre robin sequence with facial and digital anomalies" ; + skos:exactMatch UMLS:C2931064 . OMIM:312030 a owl:Class ; owl:deprecated true . @@ -110007,13 +112823,14 @@ OMIM:312040 a owl:Class ; PMID:3767982 ; RO:0002525 CHR:9606chrXp22.11-p21.3 ; RO:0003303 OMIM:301030 ; - oboInOwl:hasDbXref UMLS:C1826642 ; oboInOwl:hasExactSynonym "POLA1", "pola DNA polymerase-alpha, p180 subunit", "polymerase, dna, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5422 ; - skos:exactMatch HGNC_symbol:POLA1 ; + skos:exactMatch UMLS:C1826642, + HGNC:9173, + HGNC_symbol:POLA1 ; biolink:category biolink:Gene . OMIM:312070 a owl:Class ; @@ -110021,7 +112838,6 @@ OMIM:312070 a owl:Class ; IAO:0000142 PMID:1973144, PMID:20676083, PMID:2428611 ; - oboInOwl:hasDbXref UMLS:C1823579 ; oboInOwl:hasExactSynonym "UBL4A", "dxs254e", "gdx", @@ -110029,27 +112845,29 @@ OMIM:312070 a owl:Class ; "ubl4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8266 ; - skos:exactMatch HGNC_symbol:UBL4A ; + skos:exactMatch UMLS:C1823579, + HGNC:12505, + HGNC_symbol:UBL4A ; biolink:category biolink:Gene . OMIM:312090 a owl:Class ; rdfs:label "SLC10A3" ; IAO:0000142 PMID:12851823, PMID:3186440 ; - oboInOwl:hasDbXref UMLS:C1427831 ; oboInOwl:hasExactSynonym "SLC10A3", "protein p3", "solute carrier family 10 (sodium/bile acid cotransporter family) member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8273 ; - skos:exactMatch HGNC_symbol:SLC10A3 ; + skos:exactMatch UMLS:C1427831, + HGNC:22979, + HGNC_symbol:SLC10A3 ; biolink:category biolink:Gene . OMIM:312095 a owl:Class ; rdfs:label "AKAP17A" ; IAO:0000142 PMID:1302606, PMID:1496421 ; - oboInOwl:hasDbXref UMLS:C1824816 ; oboInOwl:hasExactSynonym "AKAP17A", "a-kinase anchor protein 17a", "dxys155e", @@ -110057,7 +112875,9 @@ OMIM:312095 a owl:Class ; "splicing factor, arginine/serine-rich, 17a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8227 ; - skos:exactMatch HGNC_symbol:AKAP17A ; + skos:exactMatch UMLS:C1824816, + HGNC:18783, + HGNC_symbol:AKAP17A ; biolink:category biolink:Gene . OMIM:312100 a owl:Class ; @@ -110069,9 +112889,9 @@ OMIM:312150 a owl:Class ; IAO:0000142 PMID:3425601, PMID:4757629, PMID:9916854 ; - oboInOwl:hasDbXref UMLS:C1839440 ; oboInOwl:hasExactSynonym "multiple pterygium syndrome, X-linked", "pterygium syndrome, multiple, X-linked" ; + skos:exactMatch UMLS:C1839440 ; biolink:category biolink:Disease . OMIM:312173 a owl:Class ; @@ -110091,13 +112911,14 @@ OMIM:312173 a owl:Class ; PMID:8081358 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300847 ; - oboInOwl:hasDbXref UMLS:C1335635 ; oboInOwl:hasExactSynonym "RPL10", "qm gene", "ribosomal protein l10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6134 ; - skos:exactMatch HGNC_symbol:RPL10 ; + skos:exactMatch UMLS:C1335635, + HGNC:10298, + HGNC_symbol:RPL10 ; biolink:category biolink:Gene . OMIM:312180 a owl:Class ; @@ -110113,35 +112934,36 @@ OMIM:312180 a owl:Class ; PMID:28031328 ; RO:0002525 CHR:9606chrXq24 ; RO:0003303 OMIM:300860 ; - oboInOwl:hasDbXref UMLS:C1421271 ; oboInOwl:hasExactSynonym "UBE2A", "hhr6a", "rad6, yeast, homolog of, iia a", "ubiquitin-conjugating enzyme e2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7319 ; - skos:exactMatch HGNC_symbol:UBE2A ; + skos:exactMatch UMLS:C1421271, + HGNC:12472, + HGNC_symbol:UBE2A ; biolink:category biolink:Gene . OMIM:312190 a owl:Class ; rdfs:label "radial aplasia, X-linked" ; IAO:0000142 PMID:8456854 ; - oboInOwl:hasDbXref UMLS:C1839410 ; oboInOwl:hasExactSynonym "radial aplasia and anogenital anomalies", - "radial aplasia, X-linked" . + "radial aplasia, X-linked" ; + skos:exactMatch UMLS:C1839410 . OMIM:312200 a owl:Class ; rdfs:label "radial loop, plain, on right index finger" ; - oboInOwl:hasDbXref UMLS:C1839409 ; - oboInOwl:hasExactSynonym "radial loop, plain, on right index finger" . + oboInOwl:hasExactSynonym "radial loop, plain, on right index finger" ; + skos:exactMatch UMLS:C1839409 . OMIM:312210 a owl:Class ; rdfs:label "radiation sensitivity of natural killer activity" ; IAO:0000142 PMID:2055785, PMID:7229373 ; - oboInOwl:hasDbXref UMLS:C1839408 ; oboInOwl:hasExactSynonym "radiation sensitivity of natural killer activity", - "x-ray nk sensitivity" . + "x-ray nk sensitivity" ; + skos:exactMatch UMLS:C1839408 . OMIM:312390 a owl:Class ; IAO:0100001 OMIM:314310 ; @@ -110160,12 +112982,13 @@ OMIM:312420 a owl:Class ; PMID:9285790, PMID:9618061, PMID:9683603 ; - oboInOwl:hasDbXref UMLS:C1419339 ; oboInOwl:hasExactSynonym "RENBP", "renin-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5973 ; - skos:exactMatch HGNC_symbol:RENBP ; + skos:exactMatch UMLS:C1419339, + HGNC:9959, + HGNC_symbol:RENBP ; biolink:category biolink:Gene . OMIM:312450 a owl:Class ; @@ -110175,8 +112998,8 @@ OMIM:312450 a owl:Class ; OMIM:312500 a owl:Class ; rdfs:label "reticuloendotheliosis, X-linked" ; IAO:0000142 PMID:4199726 ; - oboInOwl:hasDbXref UMLS:C0035288 ; oboInOwl:hasExactSynonym "reticuloendotheliosis, X-linked" ; + skos:exactMatch UMLS:C0035288 ; biolink:category biolink:Disease . OMIM:312530 a owl:Class ; @@ -110239,12 +113062,13 @@ OMIM:312610 a owl:Class ; PMID:9855162 ; RO:0002525 CHR:9606chrXp11.4 ; RO:0003303 OMIM:300455 ; - oboInOwl:hasDbXref UMLS:C1419623 ; oboInOwl:hasExactSynonym "RPGR", "retinitis pigmentosa gtpase regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6103 ; - skos:exactMatch HGNC_symbol:RPGR ; + skos:exactMatch UMLS:C1419623, + HGNC:10295, + HGNC_symbol:RPGR ; biolink:category biolink:Gene . OMIM:312750 a owl:Class ; @@ -110359,9 +113183,6 @@ OMIM:312750 a owl:Class ; PMID:9674913, PMID:9792883, PMID:9863596 ; - oboInOwl:hasDbXref UMLS:C0035372, - ORPHA:3095, - ORPHA:778 ; oboInOwl:hasExactSynonym "RTT", "autism, dementia, ataxia, and loss of purposeful hand use", "rett syndrome", @@ -110369,6 +113190,9 @@ OMIM:312750 a owl:Class ; "rett syndrome, preserved speech variant", "rett syndrome, zappella variant", "rts" ; + skos:exactMatch UMLS:C0035372, + ORPHA:3095, + ORPHA:778 ; biolink:category biolink:Disease . OMIM:312760 a owl:Class ; @@ -110383,23 +113207,24 @@ OMIM:312760 a owl:Class ; PMID:8557258, PMID:8808278, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419736 ; oboInOwl:hasExactSynonym "RPS4X", "cell cycle gene 2", "ribosomal protein s4, X-linked", "single-copy abundant mrna" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6191 ; - skos:exactMatch HGNC_symbol:RPS4X ; + skos:exactMatch UMLS:C1419736, + HGNC:10424, + HGNC_symbol:RPS4X ; biolink:category biolink:Gene . OMIM:312780 a owl:Class ; rdfs:label "russell-silver syndrome, X-linked" ; IAO:0000142 PMID:3955866 ; - oboInOwl:hasDbXref UMLS:C0220775 ; oboInOwl:hasExactSynonym "partington syndrome", "russell-silver syndrome, X-linked", - "russell-silver-like syndrome with skin pigmentation" . + "russell-silver-like syndrome with skin pigmentation" ; + skos:exactMatch UMLS:C0220775 . OMIM:312800 a owl:Class ; IAO:0100001 OMIM:600145 ; @@ -110415,8 +113240,6 @@ OMIM:312820 a owl:Class ; PMID:9428816 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300813 ; - oboInOwl:hasDbXref UMLS:C1420434, - UMLS:C1839329 ; oboInOwl:hasExactSynonym "SSX1", "sarcoma, synovial, 10 breakpoint 1", "sarcoma, synovial, x-chromosome-related 1", @@ -110424,22 +113247,25 @@ OMIM:312820 a owl:Class ; "ssx1-syt fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6756 ; - skos:exactMatch HGNC_symbol:SSX1 ; + skos:exactMatch UMLS:C1420434, + UMLS:C1839329, + HGNC:11335, + HGNC_symbol:SSX1 ; biolink:category biolink:Gene . OMIM:312830 a owl:Class ; rdfs:label "scarf syndrome" ; IAO:0000142 PMID:2596519 ; - oboInOwl:hasDbXref UMLS:C1839321 ; oboInOwl:hasExactSynonym "scarf syndrome", - "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities" . + "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities" ; + skos:exactMatch UMLS:C1839321 . OMIM:312840 a owl:Class ; rdfs:label "schimke X-linked mental retardation syndrome" ; IAO:0000142 PMID:6538752 ; - oboInOwl:hasDbXref UMLS:C1839320 ; oboInOwl:hasExactSynonym "choreoathetosis with mental retardation, X-linked", - "schimke X-linked mental retardation syndrome" . + "schimke X-linked mental retardation syndrome" ; + skos:exactMatch UMLS:C1839320 . OMIM:312860 a owl:Class ; IAO:0100001 OMIM:272440 ; @@ -110460,14 +113286,15 @@ OMIM:312861 a owl:Class ; PMID:7700379, PMID:9241279, PMID:9700207 ; - oboInOwl:hasDbXref UMLS:C1415811 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 2c", "HTR2C", "serotonin 5-ht-1c receptor, formerly", "serotonin 5-ht-2c receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3358 ; - skos:exactMatch HGNC_symbol:HTR2C ; + skos:exactMatch UMLS:C1415811, + HGNC:5295, + HGNC_symbol:HTR2C ; biolink:category biolink:Gene . OMIM:312863 a owl:Class ; @@ -110475,12 +113302,12 @@ OMIM:312863 a owl:Class ; IAO:0000142 PMID:2243135, PMID:7883965, PMID:9399950 ; - oboInOwl:hasDbXref UMLS:C1279481 ; oboInOwl:hasExactSynonym "CIDX", "combined immunodeficiency, X-linked", "immunodeficiency 6", "xcid" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1279481 ; biolink:category biolink:Disease . OMIM:312865 a owl:Class ; @@ -110538,13 +113365,14 @@ OMIM:312865 a owl:Class ; PMID:9590293 ; RO:0002525 CHR:9606chrXp22.33 ; RO:0003303 OMIM:300582 ; - oboInOwl:hasDbXref UMLS:C1420041 ; oboInOwl:hasExactSynonym "SHOX", "pseudoautosomal homeobox-containing osteogenic gene", "short stature homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6473 ; - skos:exactMatch HGNC_symbol:SHOX ; + skos:exactMatch UMLS:C1420041, + HGNC:10853, + HGNC_symbol:SHOX ; biolink:category biolink:Gene . OMIM:312870 a owl:Class ; @@ -110588,8 +113416,6 @@ OMIM:312870 a owl:Class ; PMID:9781908, PMID:9787072, PMID:9950367 ; - oboInOwl:hasDbXref UMLS:C0796154, - ORPHA:373 ; oboInOwl:hasExactSynonym "SGBS1", "bulldog syndrome", "dysplasia gigantism syndrome, X-linked", @@ -110597,6 +113423,8 @@ OMIM:312870 a owl:Class ; "sgbs", "simpson dysmorphia syndrome", "simpson-golabi-behmel syndrome, iia 1" ; + skos:exactMatch UMLS:C0796154, + ORPHA:373 ; biolink:category biolink:Disease . OMIM:312890 a owl:Class ; @@ -110610,8 +113438,8 @@ OMIM:312900 a owl:Class ; OMIM:312910 a owl:Class ; rdfs:label "spastic paraparesis and deafness" ; IAO:0000142 PMID:3741213 ; - oboInOwl:hasDbXref UMLS:C2931291 ; - oboInOwl:hasExactSynonym "spastic paraparesis and deafness" . + oboInOwl:hasExactSynonym "spastic paraparesis and deafness" ; + skos:exactMatch UMLS:C2931291 . OMIM:313020 a owl:Class ; rdfs:label "SAT1" ; @@ -110624,14 +113452,15 @@ OMIM:313020 a owl:Class ; PMID:1985966, PMID:20672378, PMID:9228047 ; - oboInOwl:hasDbXref UMLS:C1822614 ; oboInOwl:hasExactSynonym "SAT1", "spermidine/spermine n(1)-acetyltransferase 1", "ssat", "ssat1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6303 ; - skos:exactMatch HGNC_symbol:SAT1 ; + skos:exactMatch UMLS:C1822614, + HGNC:10540, + HGNC_symbol:SAT1 ; biolink:category biolink:Gene . OMIM:313100 a owl:Class ; @@ -110692,8 +113521,6 @@ OMIM:313200 a owl:Class ; PMID:8872464, PMID:9724012, PMID:9761394 ; - oboInOwl:hasDbXref UMLS:C1839259, - UMLS:C2931395 ; oboInOwl:hasExactSynonym "SMAX1", "bulbospinal muscular atrophy, X-linked", "bulbospinal neuronopathy, X-linked recessive", @@ -110701,15 +113528,17 @@ OMIM:313200 a owl:Class ; "kennedy spinal and bulbar muscular atrophy", "spinal and bulbar muscular atrophy", "spinal and bulbar muscular atrophy, X-linked 1" ; + skos:exactMatch UMLS:C1839259, + UMLS:C2931395 ; biolink:category biolink:Disease . OMIM:313420 a owl:Class ; rdfs:label "spondylometaphyseal dysplasia, X-linked" ; - oboInOwl:hasDbXref UMLS:C0796172 ; oboInOwl:hasExactSynonym "SMDXL", "spondylometaphyseal dysplasia, X-linked", "spondylometaphyseal dysplasia, richmond iia" ; rdfs:subClassOf OMIMPS:184255 ; + skos:exactMatch UMLS:C0796172 ; biolink:category biolink:Disease . OMIM:313430 a owl:Class ; @@ -110737,13 +113566,14 @@ OMIM:313430 a owl:Class ; PMID:9106538 ; RO:0002525 CHR:9606chrXq27.1 ; RO:0003303 OMIM:312000 ; - oboInOwl:hasDbXref UMLS:C1420326 ; oboInOwl:hasExactSynonym "SOX3", "sry-box 3", "sry-related hmg-box gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6658 ; - skos:exactMatch HGNC_symbol:SOX3 ; + skos:exactMatch UMLS:C1420326, + HGNC:11199, + HGNC_symbol:SOX3 ; biolink:category biolink:Gene . OMIM:313440 a owl:Class ; @@ -110763,13 +113593,14 @@ OMIM:313440 a owl:Class ; PMID:9415477 ; RO:0002525 CHR:9606chrXp11.3-p11.23 ; RO:0003303 OMIM:300115 ; - oboInOwl:hasDbXref UMLS:C1420543 ; oboInOwl:hasExactSynonym "SYN1", "brain protein 4.1", "synapsin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6853 ; - skos:exactMatch HGNC_symbol:SYN1 ; + skos:exactMatch UMLS:C1420543, + HGNC:11494, + HGNC_symbol:SYN1 ; biolink:category biolink:Gene . OMIM:313450 a owl:Class ; @@ -110789,26 +113620,27 @@ OMIM:313475 a owl:Class ; PMID:8643476 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300802 ; - oboInOwl:hasDbXref UMLS:C1420554 ; oboInOwl:hasExactSynonym "SYP", "synaptophysin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6855 ; - skos:exactMatch HGNC_symbol:SYP ; + skos:exactMatch UMLS:C1420554, + HGNC:11506, + HGNC_symbol:SYP ; biolink:category biolink:Gene . OMIM:313480 a owl:Class ; rdfs:label "taqi polymorphism" ; IAO:0000142 PMID:6291041 ; - oboInOwl:hasDbXref UMLS:C1839238 ; oboInOwl:hasExactSynonym "TAQ1", - "taqi polymorphism" . + "taqi polymorphism" ; + skos:exactMatch UMLS:C1839238 . OMIM:313490 a owl:Class ; rdfs:label "taurodontism, microdontia, and dens invaginatus" ; IAO:0000142 PMID:271276 ; - oboInOwl:hasDbXref UMLS:C1839235 ; - oboInOwl:hasExactSynonym "taurodontism, microdontia, and dens invaginatus" . + oboInOwl:hasExactSynonym "taurodontism, microdontia, and dens invaginatus" ; + skos:exactMatch UMLS:C1839235 . OMIM:313550 a owl:Class ; owl:deprecated true . @@ -110853,8 +113685,6 @@ OMIM:313650 a owl:Class ; PMID:9660973 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:300966 ; - oboInOwl:hasDbXref UMLS:C0076919, - UMLS:C1336564 ; oboInOwl:hasExactSynonym "TAF1", "ba2r", "cell cycle block, g1-to-s", @@ -110868,7 +113698,10 @@ OMIM:313650 a owl:Class ; "transcription factor 2d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6872 ; - skos:exactMatch HGNC_symbol:TAF1 ; + skos:exactMatch UMLS:C0076919, + UMLS:C1336564, + HGNC:11535, + HGNC_symbol:TAF1 ; biolink:category biolink:Gene . OMIM:313680 a owl:Class ; @@ -111078,14 +113911,15 @@ OMIM:313700 a owl:Class ; PMID:9851768 ; RO:0002525 CHR:9606chrXq12 ; RO:0003303 OMIM:176807 ; - oboInOwl:hasDbXref UMLS:C1367578 ; oboInOwl:hasExactSynonym "AR", "androgen receptor", "dihydrotestosterone receptor", "nuclear receptor subfamily 3, group c, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:367 ; - skos:exactMatch HGNC_symbol:AR ; + skos:exactMatch UMLS:C1367578, + HGNC:644, + HGNC_symbol:AR ; biolink:category biolink:Gene . OMIM:313900 a owl:Class ; @@ -111104,9 +113938,6 @@ OMIM:313900 a owl:Class ; PMID:7579347, PMID:7795648, PMID:8301658 ; - oboInOwl:hasDbXref UMLS:C1839163, - ORPHA:268322, - ORPHA:852 ; oboInOwl:hasExactSynonym "THC1", "thc", "thrombocytopenia 1", @@ -111114,13 +113945,16 @@ OMIM:313900 a owl:Class ; "thrombocytopenia, x-linked, 1", "thrombocytopenia, x-linked, intermittent" ; rdfs:subClassOf OMIMPS:313900 ; + skos:exactMatch UMLS:C1839163, + ORPHA:268322, + ORPHA:852 ; biolink:category biolink:Disease . OMIM:314000 a owl:Class ; rdfs:label "thrombocytopenia with elevated serum iga and renal disease" ; IAO:0000142 PMID:5006613 ; - oboInOwl:hasDbXref UMLS:C1839162 ; - oboInOwl:hasExactSynonym "thrombocytopenia with elevated serum iga and renal disease" . + oboInOwl:hasExactSynonym "thrombocytopenia with elevated serum iga and renal disease" ; + skos:exactMatch UMLS:C1839162 . OMIM:314050 a owl:Class ; rdfs:label "thrombocytopenia with beta-thalassemia, X-linked" ; @@ -111131,26 +113965,26 @@ OMIM:314050 a owl:Class ; PMID:18930124, PMID:22102271, PMID:871527 ; - oboInOwl:hasDbXref UMLS:C1839161 ; oboInOwl:hasExactSynonym "XLTT", "thrombocytopenia with beta-thalassemia, X-linked", "thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis" ; + skos:exactMatch UMLS:C1839161 ; biolink:category biolink:Disease . OMIM:314100 a owl:Class ; rdfs:label "adducted thumbs, congenital" ; IAO:0000142 PMID:14245720, PMID:5677295 ; - oboInOwl:hasDbXref UMLS:C0431886 ; oboInOwl:hasExactSynonym "adducted thumbs, congenital", - "thumbs, congenital clasped" . + "thumbs, congenital clasped" ; + skos:exactMatch UMLS:C0431886 . OMIM:314240 a owl:Class ; rdfs:label "tooth size" ; IAO:0000142 PMID:4505388, PMID:7446531 ; - oboInOwl:hasDbXref UMLS:C1839140 ; - oboInOwl:hasExactSynonym "tooth size" . + oboInOwl:hasExactSynonym "tooth size" ; + skos:exactMatch UMLS:C1839140 . OMIM:314250 a owl:Class ; rdfs:label "dystonia 3, torsion, X-linked" ; @@ -111168,12 +114002,12 @@ OMIM:314250 a owl:Class ; PMID:7668293, PMID:7829058, PMID:941767 ; - oboInOwl:hasDbXref UMLS:C1839130 ; oboInOwl:hasExactSynonym "DYT3", "dystonia 3, torsion, X-linked", "dystonia-parkinsonism, X-linked", "torsion dystonia-parkinsonism, filipino iia" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1839130 ; biolink:category biolink:Disease . OMIM:314320 a owl:Class ; @@ -111181,10 +114015,10 @@ OMIM:314320 a owl:Class ; IAO:0000142 PMID:1271432, PMID:30797980, PMID:6168197 ; - oboInOwl:hasDbXref UMLS:C1839125, - ORPHA:3369 ; oboInOwl:hasExactSynonym "say-meyer syndrome", - "trigonocephaly with short stature and developmental delay" . + "trigonocephaly with short stature and developmental delay" ; + skos:exactMatch UMLS:C1839125, + ORPHA:3369 . OMIM:314350 a owl:Class ; owl:deprecated true . @@ -111192,8 +114026,8 @@ OMIM:314350 a owl:Class ; OMIM:314360 a owl:Class ; rdfs:label "ulnar hypoplasia with lobster-claw deformity of feet" ; IAO:0000142 PMID:565745 ; - oboInOwl:hasDbXref UMLS:C1839123 ; - oboInOwl:hasExactSynonym "ulnar hypoplasia with lobster-claw deformity of feet" . + oboInOwl:hasExactSynonym "ulnar hypoplasia with lobster-claw deformity of feet" ; + skos:exactMatch UMLS:C1839123 . OMIM:314370 a owl:Class ; rdfs:label "UBA1" ; @@ -111217,9 +114051,6 @@ OMIM:314370 a owl:Class ; PMID:9467000 ; RO:0002525 CHR:9606chrXp11.3 ; RO:0003303 OMIM:301054 ; - oboInOwl:hasDbXref UMLS:C1421268, - UMLS:C1844934, - UMLS:C5436948 ; oboInOwl:hasExactSynonym "UBA1", "a1s9", "a1s9t", @@ -111230,7 +114061,11 @@ OMIM:314370 a owl:Class ; "ubiquitin-like modifier-activating enzyme 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7317 ; - skos:exactMatch HGNC_symbol:UBA1 ; + skos:exactMatch UMLS:C1421268, + UMLS:C1844934, + UMLS:C5436948, + HGNC:12469, + HGNC_symbol:UBA1 ; biolink:category biolink:Gene . OMIM:314375 a owl:Class ; @@ -111243,9 +114078,6 @@ OMIM:314375 a owl:Class ; PMID:9010752 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300896 ; - oboInOwl:hasDbXref UMLS:C1420188, - UMLS:C3806688, - UMLS:C4016594 ; oboInOwl:hasExactSynonym "SLC35A2", "solute carrier family 35 (udp-galactose transporter), member 2", "udp-galactose translocator", @@ -111253,28 +114085,32 @@ OMIM:314375 a owl:Class ; "udp-galactose transporter, isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7355 ; - skos:exactMatch HGNC_symbol:SLC35A2 ; + skos:exactMatch UMLS:C1420188, + UMLS:C3806688, + UMLS:C4016594, + HGNC:11022, + HGNC_symbol:SLC35A2 ; biolink:category biolink:Gene . OMIM:314380 a owl:Class ; rdfs:label "unique green phenomenon" ; IAO:0000142 PMID:1126049 ; - oboInOwl:hasDbXref UMLS:C1839116 ; oboInOwl:hasExactSynonym "unique green phenomenon" ; + skos:exactMatch UMLS:C1839116 ; biolink:category biolink:Disease . OMIM:314500 a owl:Class ; rdfs:label "van den bosch syndrome" ; - oboInOwl:hasDbXref UMLS:C0796192 ; oboInOwl:hasExactSynonym "van den bosch syndrome" ; + skos:exactMatch UMLS:C0796192 ; biolink:category biolink:Disease . OMIM:314550 a owl:Class ; rdfs:label "vesicoureteral reflux, X-linked" ; IAO:0000142 PMID:1142496 ; - oboInOwl:hasDbXref UMLS:C1839114 ; oboInOwl:hasExactSynonym "VURX", - "vesicoureteral reflux, X-linked" . + "vesicoureteral reflux, X-linked" ; + skos:exactMatch UMLS:C1839114 . OMIM:314555 a owl:Class ; IAO:0100001 OMIM:604492 ; @@ -111284,16 +114120,16 @@ OMIM:314560 a owl:Class ; rdfs:label "von willebrand disease, X-linked form" ; IAO:0000142 PMID:1081403, PMID:4539979 ; - oboInOwl:hasDbXref UMLS:C1839113 ; - oboInOwl:hasExactSynonym "von willebrand disease, X-linked form" . + oboInOwl:hasExactSynonym "von willebrand disease, X-linked form" ; + skos:exactMatch UMLS:C1839113 . OMIM:314570 a owl:Class ; rdfs:label "widow's peak syndrome" ; IAO:0000142 PMID:11241498, PMID:2801771 ; - oboInOwl:hasDbXref UMLS:C1839112 ; oboInOwl:hasExactSynonym "widow's peak syndrome", - "widow's peak, ptosis, and skeletal anomalies" . + "widow's peak, ptosis, and skeletal anomalies" ; + skos:exactMatch UMLS:C1839112 . OMIM:314600 a owl:Class ; rdfs:label "wildervanck syndrome" ; @@ -111309,9 +114145,9 @@ OMIM:314600 a owl:Class ; PMID:6601715, PMID:6689909, PMID:6873941 ; - oboInOwl:hasDbXref UMLS:C0265239 ; oboInOwl:hasExactSynonym "cervicooculoacoustic syndrome", "wildervanck syndrome" ; + skos:exactMatch UMLS:C0265239 ; biolink:category biolink:Disease . OMIM:314670 a owl:Class ; @@ -111417,14 +114253,15 @@ OMIM:314670 a owl:Class ; PMID:9931327 ; RO:0002525 CHR:9606chrXq13.2 ; RO:0003303 OMIM:300087 ; - oboInOwl:hasDbXref UMLS:C1421536, - UMLS:C1848138 ; oboInOwl:hasExactSynonym "XIST", "x inactivation center", "x inactivation-specific transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7503 ; - skos:exactMatch HGNC_symbol:XIST ; + skos:exactMatch UMLS:C1421536, + UMLS:C1848138, + HGNC:12810, + HGNC_symbol:XIST ; biolink:category biolink:Gene . OMIM:314705 a owl:Class ; @@ -111436,11 +114273,11 @@ OMIM:314705 a owl:Class ; PMID:3502698 ; RO:0002525 CHR:9606chrXp22.32 ; RO:0003303 OMIM:314700 ; - oboInOwl:hasDbXref UMLS:C1839098 ; oboInOwl:hasExactSynonym "XGR", "xg and mic2 expression on erythrocytes, regulator of", "xg regulator" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1839098 ; biolink:category biolink:Gene . OMIM:314800 a owl:Class ; @@ -111448,8 +114285,8 @@ OMIM:314800 a owl:Class ; IAO:0000142 PMID:4168889, PMID:4632378, PMID:4979141 ; - oboInOwl:hasDbXref UMLS:C3887689 ; - oboInOwl:hasExactSynonym "xh antigen" . + oboInOwl:hasExactSynonym "xh antigen" ; + skos:exactMatch UMLS:C3887689 . OMIM:314850 a owl:Class ; rdfs:label "XK" ; @@ -111478,7 +114315,6 @@ OMIM:314850 a owl:Class ; PMID:88302 ; RO:0002525 CHR:9606chrXp21.1 ; RO:0003303 OMIM:300842 ; - oboInOwl:hasDbXref UMLS:C1421537 ; oboInOwl:hasExactSynonym "XK", "kell blood group precursor", "kell blood group protein, mcleod syndrome-associated", @@ -111487,7 +114323,9 @@ OMIM:314850 a owl:Class ; "xk locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7504 ; - skos:exactMatch HGNC_symbol:XK ; + skos:exactMatch UMLS:C1421537, + HGNC:12811, + HGNC_symbol:XK ; biolink:category biolink:Gene . OMIM:314920 a owl:Class ; @@ -111513,12 +114351,13 @@ OMIM:314980 a owl:Class ; PMID:3690661, PMID:8401500, PMID:8666382 ; - oboInOwl:hasDbXref UMLS:C1421578 ; oboInOwl:hasExactSynonym "ZFX", "zinc finger protein, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7543 ; - skos:exactMatch HGNC_symbol:ZFX ; + skos:exactMatch UMLS:C1421578, + HGNC:12869, + HGNC_symbol:ZFX ; biolink:category biolink:Gene . OMIM:314990 a owl:Class ; @@ -111529,14 +114368,15 @@ OMIM:314990 a owl:Class ; PMID:27993705 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:300803 ; - oboInOwl:hasDbXref UMLS:C1824015 ; oboInOwl:hasExactSynonym "ZNF711", "cmpx1", "zinc finger protein 6", "zinc finger protein 711" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7552 ; - skos:exactMatch HGNC_symbol:ZNF711 ; + skos:exactMatch UMLS:C1824015, + HGNC:13128, + HGNC_symbol:ZNF711 ; biolink:category biolink:Gene . OMIM:314993 a owl:Class ; @@ -111544,13 +114384,14 @@ OMIM:314993 a owl:Class ; IAO:0000142 PMID:2014798, PMID:8088786, PMID:9931462 ; - oboInOwl:hasDbXref UMLS:C1823965 ; oboInOwl:hasExactSynonym "ZNF182", "zinc finger protein 182", "zinc finger protein 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7569 ; - skos:exactMatch HGNC_symbol:ZNF182 ; + skos:exactMatch UMLS:C1823965, + HGNC:13001, + HGNC_symbol:ZNF182 ; biolink:category biolink:Gene . OMIM:314995 a owl:Class ; @@ -111560,12 +114401,13 @@ OMIM:314995 a owl:Class ; PMID:2037297, PMID:23871722, PMID:4040853 ; - oboInOwl:hasDbXref UMLS:C1421797 ; oboInOwl:hasExactSynonym "ZNF41", "zinc finger protein 41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7592 ; - skos:exactMatch HGNC_symbol:ZNF41 ; + skos:exactMatch UMLS:C1421797, + HGNC:13107, + HGNC_symbol:ZNF41 ; biolink:category biolink:Gene . OMIM:314998 a owl:Class ; @@ -111574,12 +114416,13 @@ OMIM:314998 a owl:Class ; PMID:15121780, PMID:8088786, PMID:8507979 ; - oboInOwl:hasDbXref UMLS:C1421840 ; oboInOwl:hasExactSynonym "ZNF81", "zinc finger protein 81" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347344 ; - skos:exactMatch HGNC_symbol:ZNF81 ; + skos:exactMatch UMLS:C1421840, + HGNC:13156, + HGNC_symbol:ZNF81 ; biolink:category biolink:Gene . OMIM:315000 a owl:Class ; @@ -111604,13 +114447,14 @@ OMIM:400005 a owl:Class ; PMID:9384609 ; RO:0002525 CHR:9606chrYq11.221 ; RO:0003303 OMIM:415000 ; - oboInOwl:hasDbXref UMLS:C1421410 ; oboInOwl:hasExactSynonym "USP9Y", "drosophila fat facets-related, Y-linked", "ubiquitin-specific protease 9, y chromosome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8287 ; - skos:exactMatch HGNC_symbol:USP9Y ; + skos:exactMatch UMLS:C1421410, + HGNC:12633, + HGNC_symbol:USP9Y ; biolink:category biolink:Gene . OMIM:400007 a owl:Class ; @@ -111623,12 +114467,13 @@ OMIM:400008 a owl:Class ; PMID:7633447, PMID:9154127, PMID:9302280 ; - oboInOwl:hasDbXref UMLS:C1418937 ; oboInOwl:hasExactSynonym "PRKY", "protein kinase, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5616 ; - skos:exactMatch HGNC_symbol:PRKY ; + skos:exactMatch UMLS:C1418937, + HGNC:9444, + HGNC_symbol:PRKY ; biolink:category biolink:Gene . OMIM:400009 a owl:Class ; @@ -111642,14 +114487,15 @@ OMIM:400009 a owl:Class ; PMID:8944031, PMID:9381176, PMID:9499428 ; - oboInOwl:hasDbXref UMLS:C1421415 ; oboInOwl:hasExactSynonym "UTY", "lysine-specific demethylase 6c", "ubiquitously transcribed tetratricopeptide repeat gene on y chromosome", "uty1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7404 ; - skos:exactMatch HGNC_symbol:UTY ; + skos:exactMatch UMLS:C1421415, + HGNC:12638, + HGNC_symbol:UTY ; biolink:category biolink:Gene . OMIM:400010 a owl:Class ; @@ -111663,25 +114509,27 @@ OMIM:400010 a owl:Class ; PMID:18299450, PMID:31205025, PMID:9381176 ; - oboInOwl:hasDbXref UMLS:C1413926 ; oboInOwl:hasExactSynonym "DDX3Y", "dby", "dead-box helicase 3, Y-linked", "dead/h-box 3, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8653 ; - skos:exactMatch HGNC_symbol:DDX3Y ; + skos:exactMatch UMLS:C1413926, + HGNC:2699, + HGNC_symbol:DDX3Y ; biolink:category biolink:Gene . OMIM:400011 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:9736779 ; - oboInOwl:hasDbXref UMLS:C1412586 ; oboInOwl:hasExactSynonym "acetylserotonin methyltransferase-like, Y-linked", "asmtly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8623 ; - skos:exactMatch HGNC_symbol:ASMTL ; + skos:exactMatch UMLS:C1412586, + HGNC:751, + HGNC_symbol:ASMTL ; biolink:category biolink:Gene . OMIM:400012 a owl:Class ; @@ -111689,14 +114537,15 @@ OMIM:400012 a owl:Class ; IAO:0000142 PMID:10607842, PMID:12862317, PMID:9381176 ; - oboInOwl:hasDbXref UMLS:C1421439 ; oboInOwl:hasExactSynonym "VCY", "basic protein, y chromosome, 1", "variably charged, y chromosome", "vcy1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9084 ; - skos:exactMatch HGNC_symbol:VCY ; + skos:exactMatch UMLS:C1421439, + HGNC:12668, + HGNC_symbol:VCY ; biolink:category biolink:Gene . OMIM:400013 a owl:Class ; @@ -111705,7 +114554,6 @@ OMIM:400013 a owl:Class ; PMID:12724276, PMID:15177557, PMID:9381176 ; - oboInOwl:hasDbXref UMLS:C1538959 ; oboInOwl:hasExactSynonym "BPY2", "basic protein, y chromosome, 2", "bpy2a", @@ -111713,29 +114561,33 @@ OMIM:400013 a owl:Class ; "vcy2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9083 ; - skos:exactMatch HGNC_symbol:BPY2 ; + skos:exactMatch UMLS:C1538959, + HGNC:13508, + HGNC_symbol:BPY2 ; biolink:category biolink:Gene . OMIM:400014 a owl:Class ; rdfs:label "EIF1AY" ; IAO:0000142 PMID:9381176 ; - oboInOwl:hasDbXref UMLS:C1414325 ; oboInOwl:hasExactSynonym "EIF1AY", "eukaryotic translation initiation factor 1a, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9086 ; - skos:exactMatch HGNC_symbol:EIF1AY ; + skos:exactMatch UMLS:C1414325, + HGNC:3252, + HGNC_symbol:EIF1AY ; biolink:category biolink:Gene . OMIM:400015 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:9381176 ; - oboInOwl:hasDbXref UMLS:C1425610 ; oboInOwl:hasExactSynonym "xk-related protein on y chromosome", "xkry" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9082 ; - skos:exactMatch HGNC_symbol:XKRY ; + skos:exactMatch UMLS:C1425610, + HGNC:18571, + HGNC_symbol:XKRY ; biolink:category biolink:Gene . OMIM:400016 a owl:Class ; @@ -111747,13 +114599,14 @@ OMIM:400016 a owl:Class ; PMID:18450745, PMID:9381176, PMID:9806824 ; - oboInOwl:hasDbXref UMLS:C1413303 ; oboInOwl:hasExactSynonym "CDY1", "chromodomain protein, y chromosome", "chromodomain protein, y-linked, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9085 ; - skos:exactMatch HGNC_symbol:CDY1 ; + skos:exactMatch UMLS:C1413303, + HGNC:1809, + HGNC_symbol:CDY1 ; biolink:category biolink:Gene . OMIM:400017 a owl:Class ; @@ -111761,26 +114614,28 @@ OMIM:400017 a owl:Class ; IAO:0000142 PMID:15557202, PMID:27058445, PMID:9381176 ; - oboInOwl:hasDbXref UMLS:C1420788 ; oboInOwl:hasExactSynonym "TMSB4Y", "tb4y", "thymosin, beta-4, y chromosome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9087 ; - skos:exactMatch HGNC_symbol:TMSB4Y ; + skos:exactMatch UMLS:C1420788, + HGNC:11882, + HGNC_symbol:TMSB4Y ; biolink:category biolink:Gene . OMIM:400018 a owl:Class ; rdfs:label "CDY2A" ; IAO:0000142 PMID:10192397, PMID:9381176 ; - oboInOwl:hasDbXref UMLS:C1824691 ; oboInOwl:hasExactSynonym "CDY2A", "chromodomain protein, y chromosome, 2", "chromodomain protein, y-linked, 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9426 ; - skos:exactMatch HGNC_symbol:CDY2A ; + skos:exactMatch UMLS:C1824691, + HGNC:1810, + HGNC_symbol:CDY2A ; biolink:category biolink:Gene . OMIM:400019 a owl:Class ; @@ -111789,14 +114644,15 @@ OMIM:400019 a owl:Class ; PMID:15177557, PMID:9381176, PMID:9806824 ; - oboInOwl:hasDbXref UMLS:C1422358 ; oboInOwl:hasExactSynonym "PRY", "ptpbl-related gene on y", "ptpbl-related gene on y, 1", "ptpn13-like, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9081 ; - skos:exactMatch HGNC_symbol:PRY ; + skos:exactMatch UMLS:C1422358, + HGNC:14024, + HGNC_symbol:PRY ; biolink:category biolink:Gene . OMIM:400020 a owl:Class ; @@ -111805,20 +114661,21 @@ OMIM:400020 a owl:Class ; PMID:9259282 ; RO:0002525 CHR:9606chrYp11.2 ; RO:0003303 OMIM:300582 ; - oboInOwl:hasDbXref UMLS:C4551876 ; oboInOwl:hasExactSynonym "SHOXY", "short stature homeobox, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6473 ; - skos:exactMatch HGNC_symbol:SHOX ; + skos:exactMatch UMLS:C4551876, + HGNC:10853, + HGNC_symbol:SHOX ; biolink:category biolink:Gene . OMIM:400021 a owl:Class ; rdfs:label "lymphoma, hodgkin, Y-linked pseudoautosomal" ; IAO:0000142 PMID:10521308 ; - oboInOwl:hasDbXref UMLS:C1839076 ; oboInOwl:hasExactSynonym "hodgkin disease, Y-linked pseudoautosomal", "lymphoma, hodgkin, Y-linked pseudoautosomal" ; + skos:exactMatch UMLS:C1839076 ; biolink:category biolink:Disease . OMIM:400022 a owl:Class ; @@ -111832,25 +114689,27 @@ OMIM:400022 a owl:Class ; PMID:27058445, PMID:9110170, PMID:9384598 ; - oboInOwl:hasDbXref UMLS:C1423749 ; oboInOwl:hasExactSynonym "PCDH11Y", "protocadherin 11, Y-linked", "protocadherin 22, formerly", "protocadherin, y chromosome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83259 ; - skos:exactMatch HGNC_symbol:PCDH11Y ; + skos:exactMatch UMLS:C1423749, + HGNC:15813, + HGNC_symbol:PCDH11Y ; biolink:category biolink:Gene . OMIM:400023 a owl:Class ; rdfs:label "CRLF2Y" ; IAO:0000142 PMID:11474172 ; - oboInOwl:hasDbXref UMLS:C1422539 ; oboInOwl:hasExactSynonym "CRLF2Y", "cytokine receptor-like factor 2, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64109 ; - skos:exactMatch HGNC_symbol:CRLF2 ; + skos:exactMatch UMLS:C1422539, + HGNC:14281, + HGNC_symbol:CRLF2 ; biolink:category biolink:Gene . OMIM:400024 a owl:Class ; @@ -111860,37 +114719,40 @@ OMIM:400024 a owl:Class ; OMIM:400025 a owl:Class ; rdfs:label "TGIF2LY" ; IAO:0000142 PMID:12226713 ; - oboInOwl:hasDbXref UMLS:C1425608 ; oboInOwl:hasExactSynonym "TGIF2LY", "tgifly", "transforming growth factor-beta-induced factor 2-like, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90655 ; - skos:exactMatch HGNC_symbol:TGIF2LY ; + skos:exactMatch UMLS:C1425608, + HGNC:18569, + HGNC_symbol:TGIF2LY ; biolink:category biolink:Gene . OMIM:400026 a owl:Class ; rdfs:label "DAZ2" ; IAO:0000142 PMID:10936047, PMID:8896558 ; - oboInOwl:hasDbXref UMLS:C1423868 ; oboInOwl:hasExactSynonym "DAZ2", "deleted 1n azoospermia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57055 ; - skos:exactMatch HGNC_symbol:DAZ2 ; + skos:exactMatch UMLS:C1423868, + HGNC:15964, + HGNC_symbol:DAZ2 ; biolink:category biolink:Gene . OMIM:400027 a owl:Class ; rdfs:label "DAZ3" ; IAO:0000142 PMID:10936047, PMID:8896558 ; - oboInOwl:hasDbXref UMLS:C1423869 ; oboInOwl:hasExactSynonym "DAZ3", "deleted 1n azoospermia 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57054 ; - skos:exactMatch HGNC_symbol:DAZ3 ; + skos:exactMatch UMLS:C1423869, + HGNC:15965, + HGNC_symbol:DAZ3 ; biolink:category biolink:Gene . OMIM:400028 a owl:Class ; @@ -111900,42 +114762,45 @@ OMIM:400028 a owl:Class ; PMID:12815422, PMID:16077734, PMID:18628683 ; - oboInOwl:hasDbXref UMLS:C1423557 ; oboInOwl:hasExactSynonym "NLGN4Y", "kiaa0951", "neuroligin 4, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22829 ; - skos:exactMatch HGNC_symbol:NLGN4Y ; + skos:exactMatch UMLS:C1423557, + HGNC:15529, + HGNC_symbol:NLGN4Y ; biolink:category biolink:Gene . OMIM:400029 a owl:Class ; rdfs:label "HSFY" ; IAO:0000142 PMID:12815422 ; - oboInOwl:hasDbXref UMLS:C1537384 ; oboInOwl:hasExactSynonym "HSFY", "heat-shock transcription factor, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:86614 ; - skos:exactMatch HGNC_symbol:HSFY1 ; + skos:exactMatch UMLS:C1537384, + HGNC:18568, + HGNC_symbol:HSFY1 ; biolink:category biolink:Gene . OMIM:400030 a owl:Class ; rdfs:label "RPS4Y2" ; IAO:0000142 PMID:12815422 ; - oboInOwl:hasDbXref UMLS:C1425562 ; oboInOwl:hasExactSynonym "RPS4Y2", "ribosomal protein s4, y-linked, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140032 ; - skos:exactMatch HGNC_symbol:RPS4Y2 ; + skos:exactMatch UMLS:C1425562, + HGNC:18501, + HGNC_symbol:RPS4Y2 ; biolink:category biolink:Gene . OMIM:400032 a owl:Class ; IAO:0000142 PMID:12815422 ; IAO:0100001 OMIM:400031 ; - oboInOwl:hasDbXref UMLS:C1425615 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1425615 . OMIM:400033 a owl:Class ; rdfs:label "TBL1Y" ; @@ -111945,100 +114810,108 @@ OMIM:400033 a owl:Class ; PMID:30341416 ; RO:0002525 CHR:9606chrYp11.2 ; RO:0003303 OMIM:400047 ; - oboInOwl:hasDbXref UMLS:C1425563 ; oboInOwl:hasExactSynonym "TBL1Y", "transducin-beta-like 1, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90665 ; - skos:exactMatch HGNC_symbol:TBL1Y ; + skos:exactMatch UMLS:C1425563, + HGNC:18502, + HGNC_symbol:TBL1Y ; biolink:category biolink:Gene . OMIM:400034 a owl:Class ; rdfs:label "CSPG4P1Y" ; IAO:0000142 PMID:12815422, PMID:15177557 ; - oboInOwl:hasDbXref UMLS:C1824806 ; oboInOwl:hasExactSynonym "CSPG4P1Y", "chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked", "chondroitin sulfate proteoglycan 4-like, Y-linked", "cspg4-like, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114758 ; - skos:exactMatch HGNC_symbol:CSPG4P1Y ; + skos:exactMatch UMLS:C1824806, + HGNC:16478, + HGNC_symbol:CSPG4P1Y ; biolink:category biolink:Gene . OMIM:400035 a owl:Class ; rdfs:label "GOLGA2P2Y" ; IAO:0000142 PMID:12815422, PMID:15177557 ; - oboInOwl:hasDbXref UMLS:C1825382 ; oboInOwl:hasExactSynonym "GOLGA2P2Y", "golga2 pseudogene 2, Y-linked", "golga2-like, Y-linked", "golgi autoantigen, golgin subfamily a, 2-like, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84559 ; - skos:exactMatch HGNC_symbol:GOLGA2P2Y ; + skos:exactMatch UMLS:C1825382, + HGNC:16479, + HGNC_symbol:GOLGA2P2Y ; biolink:category biolink:Gene . OMIM:400036 a owl:Class ; rdfs:label "TTTY3" ; IAO:0000142 PMID:12815422, PMID:15177557 ; - oboInOwl:hasDbXref UMLS:C1424312 ; oboInOwl:hasExactSynonym "TTTY3", "testis-specific transcript, y-linked, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114760 ; - skos:exactMatch HGNC_symbol:TTTY3 ; + skos:exactMatch UMLS:C1424312, + HGNC:16480, + HGNC_symbol:TTTY3 ; biolink:category biolink:Gene . OMIM:400037 a owl:Class ; rdfs:label "TTTY4" ; IAO:0000142 PMID:12815422, PMID:15177557 ; - oboInOwl:hasDbXref UMLS:C1424313 ; oboInOwl:hasExactSynonym "TTTY4", "testis-specific transcript, y-linked, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114761 ; - skos:exactMatch HGNC_symbol:TTTY4 ; + skos:exactMatch UMLS:C1424313, + HGNC:16481, + HGNC_symbol:TTTY4 ; biolink:category biolink:Gene . OMIM:400038 a owl:Class ; rdfs:label "TTTY5" ; IAO:0000142 PMID:12815422, PMID:15177557 ; - oboInOwl:hasDbXref UMLS:C1424314 ; oboInOwl:hasExactSynonym "TTTY5", "testis-specific transcript, y-linked, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83863 ; - skos:exactMatch HGNC_symbol:TTTY5 ; + skos:exactMatch UMLS:C1424314, + HGNC:16482, + HGNC_symbol:TTTY5 ; biolink:category biolink:Gene . OMIM:400039 a owl:Class ; rdfs:label "TTTY6" ; IAO:0000142 PMID:12815422, PMID:15177557 ; - oboInOwl:hasDbXref UMLS:C1424315 ; oboInOwl:hasExactSynonym "TTTY6", "testis-specific transcript, y-linked, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84672 ; - skos:exactMatch HGNC_symbol:TTTY6 ; + skos:exactMatch UMLS:C1424315, + HGNC:16483, + HGNC_symbol:TTTY6 ; biolink:category biolink:Gene . OMIM:400040 a owl:Class ; rdfs:label "TTTY17" ; IAO:0000142 PMID:12815422, PMID:15177557 ; - oboInOwl:hasDbXref UMLS:C1823550 ; oboInOwl:hasExactSynonym "TTTY17", "testis-specific transcript, y-linked, 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:252949 ; - skos:exactMatch HGNC_symbol:TTTY17A ; + skos:exactMatch UMLS:C1823550, + HGNC:18841, + HGNC_symbol:TTTY17A ; biolink:category biolink:Gene . OMIM:400041 a owl:Class ; @@ -112046,14 +114919,15 @@ OMIM:400041 a owl:Class ; IAO:0000142 PMID:12815422, PMID:15177557, PMID:9381176 ; - oboInOwl:hasDbXref UMLS:C1538734 ; oboInOwl:hasExactSynonym "PRY2", "ptpbl-related gene on y, 2", "ptpn13-like gene, y-linked, 2", "ptpn13-like gene, y-linked, centromeric" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442862 ; - skos:exactMatch HGNC_symbol:PRY2 ; + skos:exactMatch UMLS:C1538734, + HGNC:21504, + HGNC_symbol:PRY2 ; biolink:category biolink:Gene . OMIM:400042 a owl:Class ; @@ -112075,10 +114949,6 @@ OMIM:400042 a owl:Class ; PMID:9557827 ; RO:0002525 CHR:9606chrYq11 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C0028960, - UMLS:C1839074, - UMLS:C1839075, - UMLS:C4551960 ; oboInOwl:hasExactSynonym "SPGFY1", "hypospermatogenesis", "incomplete sertoli cell-only syndrome", @@ -112087,16 +114957,20 @@ OMIM:400042 a owl:Class ; "sertoli cell-only syndrome, Y-linked", "spermatogenic failure, y-linked, 1" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C0028960, + UMLS:C1839074, + UMLS:C1839075, + UMLS:C4551960 ; biolink:category biolink:Disease . OMIM:400046 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:22732399 ; - oboInOwl:hasDbXref UMLS:C4310835 ; oboInOwl:hasExactSynonym "phospholipase c, phosphatidylinositol-specific, 10 domain-containing protein 1, Y-linked", "piplc 10 domain-containing protein 1, Y-linked", "plcxd1y" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C4310835 ; biolink:category biolink:Gene . OMIM:400048 a owl:Class ; @@ -112110,7 +114984,8 @@ OMIM:400048 a owl:Class ; "deleted 1n azoospermia 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57135 ; - skos:exactMatch HGNC_symbol:DAZ4 ; + skos:exactMatch HGNC:15966, + HGNC_symbol:DAZ4 ; biolink:category biolink:Gene . OMIM:400049 a owl:Class ; @@ -112130,33 +115005,36 @@ OMIM:400050 a owl:Class ; "variably charged, y chromosome, 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353513 ; - skos:exactMatch HGNC_symbol:VCY1B ; + skos:exactMatch HGNC:31751, + HGNC_symbol:VCY1B ; biolink:category biolink:Gene . OMIM:402500 a owl:Class ; rdfs:label "ASMT" ; IAO:0000142 PMID:8098975, PMID:8397829 ; - oboInOwl:hasDbXref UMLS:C1412585 ; oboInOwl:hasExactSynonym "ASMT", "acetylserotonin methyltransferase, y-chromosomal", "asmty", "hydroxyindole-o-methyltransferase, y-chromosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:438 ; - skos:exactMatch HGNC_symbol:ASMT ; + skos:exactMatch UMLS:C1412585, + HGNC:750, + HGNC_symbol:ASMT ; biolink:category biolink:Gene . OMIM:403000 a owl:Class ; rdfs:label "SLC25A6" ; IAO:0000142 PMID:8486369 ; - oboInOwl:hasDbXref UMLS:C1335835 ; oboInOwl:hasExactSynonym "SLC25A6", "adenine nucleotide translocator 3, y-chromosomal", "solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member a6, y-chromosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:293 ; - skos:exactMatch HGNC_symbol:SLC25A6 ; + skos:exactMatch UMLS:C1335835, + HGNC:10992, + HGNC_symbol:SLC25A6 ; biolink:category biolink:Gene . OMIM:410000 a owl:Class ; @@ -112169,14 +115047,15 @@ OMIM:410000 a owl:Class ; PMID:2004775, PMID:2737677, PMID:8566801 ; - oboInOwl:hasDbXref UMLS:C1412383 ; oboInOwl:hasExactSynonym "AMELY", "amelogenin, y-chromosomal", "amelogenin-like", "amgy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266 ; - skos:exactMatch HGNC_symbol:AMELY ; + skos:exactMatch UMLS:C1412383, + HGNC:462, + HGNC_symbol:AMELY ; biolink:category biolink:Gene . OMIM:424000 a owl:Class ; @@ -112190,32 +115069,34 @@ OMIM:424500 a owl:Class ; PMID:3548944, PMID:8533770, PMID:8589038 ; - oboInOwl:hasDbXref UMLS:C0206661 ; oboInOwl:hasExactSynonym "GBY", - "gonadoblastoma" . + "gonadoblastoma" ; + skos:exactMatch UMLS:C0206661 . OMIM:425000 a owl:Class ; rdfs:label "CSF2RY" ; IAO:0000142 PMID:1972780 ; - oboInOwl:hasDbXref UMLS:C1413750 ; oboInOwl:hasExactSynonym "CSF2RY", "granulocyte-macrophage colony-stimulating factor receptor, alpha subunit, y-chromosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1438 ; - skos:exactMatch HGNC_symbol:CSF2RA ; + skos:exactMatch UMLS:C1413750, + HGNC:2435, + HGNC_symbol:CSF2RA ; biolink:category biolink:Gene . OMIM:430000 a owl:Class ; rdfs:label "IL3RA" ; IAO:0000142 PMID:8100720 ; - oboInOwl:hasDbXref UMLS:C1416408 ; oboInOwl:hasExactSynonym "IL3RA", "il3ray", "il3ry", "interleukin 3 receptor, y-chromosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3563 ; - skos:exactMatch HGNC_symbol:IL3RA ; + skos:exactMatch UMLS:C1416408, + HGNC:6012, + HGNC_symbol:IL3RA ; biolink:category biolink:Gene . OMIM:450000 a owl:Class ; @@ -112227,7 +115108,6 @@ OMIM:450000 a owl:Class ; PMID:4038849, PMID:4058580, PMID:6188056 ; - oboInOwl:hasDbXref UMLS:C2752148 ; oboInOwl:hasExactSynonym "cd99 antigen, y chromosome", "cell surface antigen 12e7, y chromosome", "cell surface antigen hba-71, y chromosome", @@ -112236,21 +115116,24 @@ OMIM:450000 a owl:Class ; "mic2 surface antigen, y chromosome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4267 ; - skos:exactMatch HGNC_symbol:CD99 ; + skos:exactMatch UMLS:C2752148, + HGNC:7082, + HGNC_symbol:CD99 ; biolink:category biolink:Gene . OMIM:465000 a owl:Class ; rdfs:label "AKAP17A" ; IAO:0000142 PMID:1302606, PMID:1496421 ; - oboInOwl:hasDbXref UMLS:C1824816 ; oboInOwl:hasExactSynonym "AKAP17A", "a-kinase anchor protein 17a, y-chromosomal", "pseudoautosomal gene xe7, y-chromosomal", "splicing factor, arginine/serine rich, 17a, y-chromosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8227 ; - skos:exactMatch HGNC_symbol:AKAP17A ; + skos:exactMatch UMLS:C1824816, + HGNC:18783, + HGNC_symbol:AKAP17A ; biolink:category biolink:Gene . OMIM:470000 a owl:Class ; @@ -112259,12 +115142,13 @@ OMIM:470000 a owl:Class ; PMID:1783379, PMID:2124517, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1539689 ; oboInOwl:hasExactSynonym "RPS4Y1", "ribosomal protein s4, y-linked, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6192 ; - skos:exactMatch HGNC_symbol:RPS4Y1 ; + skos:exactMatch UMLS:C1539689, + HGNC:10425, + HGNC_symbol:RPS4Y1 ; biolink:category biolink:Gene . OMIM:480000 a owl:Class ; @@ -112350,16 +115234,17 @@ OMIM:480000 a owl:Class ; PMID:9521592 ; RO:0002525 CHR:9606chrYp11.2 ; RO:0003303 OMIM:400044 ; - oboInOwl:hasDbXref UMLS:C1420418, - UMLS:C2697358, - UMLS:C2748896 ; oboInOwl:hasExactSynonym "SRY", "sex-determining region y", "testis-determining factor", "testis-determining factor on y" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6736 ; - skos:exactMatch HGNC_symbol:SRY ; + skos:exactMatch UMLS:C1420418, + UMLS:C2697358, + UMLS:C2748896, + HGNC:11311, + HGNC_symbol:SRY ; biolink:category biolink:Gene . OMIM:480100 a owl:Class ; @@ -112376,13 +115261,14 @@ OMIM:480100 a owl:Class ; PMID:8923009, PMID:9467017, PMID:9510508 ; - oboInOwl:hasDbXref UMLS:C1421207 ; oboInOwl:hasExactSynonym "TSPY1", "testis-specific protein, y-linked, 1", "tspy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7258 ; - skos:exactMatch HGNC_symbol:TSPY1 ; + skos:exactMatch UMLS:C1421207, + HGNC:12381, + HGNC_symbol:TSPY1 ; biolink:category biolink:Gene . OMIM:488000 a owl:Class ; @@ -112394,18 +115280,18 @@ OMIM:489000 a owl:Class ; IAO:0000142 PMID:1406968, PMID:1684224, PMID:1749428 ; - oboInOwl:hasDbXref UMLS:C1839046 ; oboInOwl:hasExactSynonym "ube1y", - "ubiquitin-activating enzyme, Y-linked" . + "ubiquitin-activating enzyme, Y-linked" ; + skos:exactMatch UMLS:C1839046 . OMIM:489500 a owl:Class ; rdfs:label "XGR" ; IAO:0000142 PMID:3502698 ; - oboInOwl:hasDbXref UMLS:C1421534 ; oboInOwl:hasExactSynonym "XGR", "xg and mic2 expression on erythrocytes", "xg regulator" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1421534 ; biolink:category biolink:Gene . OMIM:490000 a owl:Class ; @@ -112423,12 +115309,13 @@ OMIM:490000 a owl:Class ; PMID:8650552, PMID:8650553, PMID:9126493 ; - oboInOwl:hasDbXref UMLS:C1421579 ; oboInOwl:hasExactSynonym "ZFY", "zinc finger protein, Y-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7544 ; - skos:exactMatch HGNC_symbol:ZFY ; + skos:exactMatch UMLS:C1421579, + HGNC:12870, + HGNC_symbol:ZFY ; biolink:category biolink:Gene . OMIM:500000 a owl:Class ; @@ -112439,36 +115326,36 @@ OMIM:500000 a owl:Class ; PMID:5560626, PMID:6778813, PMID:7942464 ; - oboInOwl:hasDbXref UMLS:C1708371 ; oboInOwl:hasExactSynonym "cardiomyopathy, focal lipid", "cardiomyopathy, infantile histiocytoid", "cardiomyopathy, infantile xanthomatous", "cardiomyopathy, oncocytic", "foamy myocardial transformation of infancy" ; + skos:exactMatch UMLS:C1708371 ; biolink:category biolink:Disease . OMIM:500003 a owl:Class ; rdfs:label "striatonigral degeneration, infantile, mitochondrial" ; IAO:0000142 PMID:7668837, PMID:8554662 ; - oboInOwl:hasDbXref UMLS:C1839022 ; oboInOwl:hasExactSynonym "bilateral striatal necrosis, infantile, mitochondrial", "infantile bilateral striatal necrosis, mitochondrial", "striatonigral degeneration, infantile, mitochondrial" ; + skos:exactMatch UMLS:C1839022 ; biolink:category biolink:Disease . OMIM:500005 a owl:Class ; rdfs:label "hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial" ; IAO:0000142 PMID:15498972 ; - oboInOwl:hasDbXref UMLS:C1839021 ; oboInOwl:hasExactSynonym "hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial" ; + skos:exactMatch UMLS:C1839021 ; biolink:category biolink:Disease . OMIM:500006 a owl:Class ; rdfs:label "cardiomyopathy, infantile hypertrophic" ; IAO:0000142 PMID:19188198 ; - oboInOwl:hasDbXref UMLS:C2748884 ; oboInOwl:hasExactSynonym "cardiomyopathy, infantile hypertrophic" ; + skos:exactMatch UMLS:C2748884 ; biolink:category biolink:Disease . OMIM:500007 a owl:Class ; @@ -112478,14 +115365,14 @@ OMIM:500007 a owl:Class ; PMID:12884425, PMID:12905015, PMID:15643622 ; - oboInOwl:hasDbXref UMLS:C0152164, - UMLS:C1838991, - UMLS:C1838992 ; oboInOwl:hasExactSynonym "CVS", "cvs-plus", "cyclic vomiting syndrome", "cyclic vomiting syndrome with neuromuscular disease", "cyclic vomiting syndrome-plus" ; + skos:exactMatch UMLS:C0152164, + UMLS:C1838991, + UMLS:C1838992 ; biolink:category biolink:Disease . OMIM:500008 a owl:Class ; @@ -112502,8 +115389,8 @@ OMIM:500008 a owl:Class ; PMID:21931169, PMID:7689389, PMID:8019558 ; - oboInOwl:hasDbXref UMLS:C3151897 ; oboInOwl:hasExactSynonym "deafness, nonsyndromic sensorineural, mitochondrial" ; + skos:exactMatch UMLS:C3151897 ; biolink:category biolink:Disease . OMIM:500009 a owl:Class ; @@ -112515,28 +115402,28 @@ OMIM:500009 a owl:Class ; PMID:3025776, PMID:4273245, PMID:6312869 ; - oboInOwl:hasDbXref UMLS:C3151898 ; oboInOwl:hasExactSynonym "MMIT", "cox deficiency myopathy, infantile, transient", "mitochondrial myopathy, infantile, transient", "mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency", "respiratory chain deficiency, infantile, transient" ; + skos:exactMatch UMLS:C3151898 ; biolink:category biolink:Disease . OMIM:500010 a owl:Class ; rdfs:label "ataxia and polyneuropathy, adult-onset" ; IAO:0000142 PMID:16049925, PMID:18055910 ; - oboInOwl:hasDbXref UMLS:C1838916 ; oboInOwl:hasExactSynonym "ataxia and polyneuropathy, adult-onset" ; + skos:exactMatch UMLS:C1838916 ; biolink:category biolink:Disease . OMIM:500011 a owl:Class ; rdfs:label "myopathy, lactic acidosis, and sideroblastic anemia 3" ; IAO:0000142 PMID:25037980 ; - oboInOwl:hasDbXref UMLS:C4225415 ; oboInOwl:hasExactSynonym "MLASA3", "myopathy, lactic acidosis, and sideroblastic anemia 3" ; + skos:exactMatch UMLS:C4225415 ; biolink:category biolink:Disease . OMIM:500013 a owl:Class ; @@ -112550,9 +115437,9 @@ OMIM:500014 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, mitochondrial iia 1" ; IAO:0000142 PMID:11456298, PMID:14705112 ; - oboInOwl:hasDbXref UMLS:C4746992 ; oboInOwl:hasExactSynonym "MC1DM1", "mitochondrial complex 1 deficiency, mitochondrial iia 1" ; + skos:exactMatch UMLS:C4746992 ; biolink:category biolink:Disease . OMIM:500015 a owl:Class ; @@ -112561,9 +115448,9 @@ OMIM:500015 a owl:Class ; PMID:1550128, PMID:3612192, PMID:8395787 ; - oboInOwl:hasDbXref UMLS:C3275684 ; oboInOwl:hasExactSynonym "MC5DM1", "mitochondrial complex 5 (atp synthase) deficiency, mitochondrial iia 1" ; + skos:exactMatch UMLS:C3275684 ; biolink:category biolink:Disease . OMIM:502000 a owl:Class ; @@ -112586,8 +115473,8 @@ OMIM:502000 a owl:Class ; PMID:16791200, PMID:19944403, PMID:9449878 ; - oboInOwl:hasDbXref UMLS:C0001811 ; oboInOwl:hasExactSynonym "aging" ; + skos:exactMatch UMLS:C0001811 ; biolink:category biolink:Disease . OMIM:502500 a owl:Class ; @@ -112602,8 +115489,8 @@ OMIM:502500 a owl:Class ; PMID:9405710, PMID:9405711, PMID:9535760 ; - oboInOwl:hasDbXref UMLS:C1838990 ; oboInOwl:hasExactSynonym "alzheimer disease, susceptibility to, mitochondrial" ; + skos:exactMatch UMLS:C1838990 ; biolink:category biolink:Disease . OMIM:510000 a owl:Class ; @@ -112625,11 +115512,11 @@ OMIM:515000 a owl:Class ; PMID:7219548, PMID:741354, PMID:9279383 ; - oboInOwl:hasDbXref UMLS:C0008170, - UMLS:C1838989 ; oboInOwl:hasExactSynonym "anemia, chloramphenicol-induced", "chloramphenicol resistance", "chloramphenicol toxicity" ; + skos:exactMatch UMLS:C0008170, + UMLS:C1838989 ; biolink:category biolink:Disease . OMIM:516000 a owl:Class ; @@ -112693,8 +115580,6 @@ OMIM:516000 a owl:Class ; PMID:8104867, PMID:8496715, PMID:9806551 ; - oboInOwl:hasDbXref UMLS:C1537989, - UMLS:C4722145 ; oboInOwl:hasExactSynonym "MTND1", "NADH dehydrogenase, subunit 1", "complex i, subunit nd1", @@ -112702,7 +115587,10 @@ OMIM:516000 a owl:Class ; "nadh-ubiquinone oxidoreductase, subunit nd1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4535 ; - skos:exactMatch HGNC_symbol:MT-ND1 ; + skos:exactMatch UMLS:C1537989, + UMLS:C4722145, + HGNC:7455, + HGNC_symbol:MT-ND1 ; biolink:category biolink:Gene . OMIM:516001 a owl:Class ; @@ -112733,14 +115621,15 @@ OMIM:516001 a owl:Class ; PMID:9449878, PMID:9504930, PMID:9854792 ; - oboInOwl:hasDbXref UMLS:C1537990 ; oboInOwl:hasExactSynonym "MTND2", "NADH dehydrogenase, subunit 2", "complex i, subunit nd2", "nadh-ubiquinone oxidoreductase, subunit nd2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4536 ; - skos:exactMatch HGNC_symbol:MT-ND2 ; + skos:exactMatch UMLS:C1537990, + HGNC:7456, + HGNC_symbol:MT-ND2 ; biolink:category biolink:Gene . OMIM:516002 a owl:Class ; @@ -112773,14 +115662,15 @@ OMIM:516002 a owl:Class ; PMID:7219535, PMID:7219536, PMID:741350 ; - oboInOwl:hasDbXref UMLS:C1537991 ; oboInOwl:hasExactSynonym "MTND3", "NADH dehydrogenase, subunit 3", "complex i, subunit nd3", "nadh-ubiquinone oxidoreductase, subunit nd3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4537 ; - skos:exactMatch HGNC_symbol:MT-ND3 ; + skos:exactMatch UMLS:C1537991, + HGNC:7458, + HGNC_symbol:MT-ND3 ; biolink:category biolink:Gene . OMIM:516003 a owl:Class ; @@ -112858,14 +115748,15 @@ OMIM:516003 a owl:Class ; PMID:8594574, PMID:8644732, PMID:9150158 ; - oboInOwl:hasDbXref UMLS:C1537992 ; oboInOwl:hasExactSynonym "MTND4", "NADH dehydrogenase, subunit 4", "complex i, subunit nd4", "nadh-ubiquinone oxidoreductase, subunit nd4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4538 ; - skos:exactMatch HGNC_symbol:MT-ND4 ; + skos:exactMatch UMLS:C1537992, + HGNC:7459, + HGNC_symbol:MT-ND4 ; biolink:category biolink:Gene . OMIM:516004 a owl:Class ; @@ -112886,14 +115777,15 @@ OMIM:516004 a owl:Class ; PMID:7219535, PMID:7219536, PMID:9806551 ; - oboInOwl:hasDbXref UMLS:C1537993 ; oboInOwl:hasExactSynonym "MTND4L", "NADH dehydrogenase, subunit 4l", "complex i, subunit nd4l", "nadh-ubiquinone oxidoreductase, subunit nd4l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4539 ; - skos:exactMatch HGNC_symbol:MT-ND4L ; + skos:exactMatch UMLS:C1537993, + HGNC:7460, + HGNC_symbol:MT-ND4L ; biolink:category biolink:Gene . OMIM:516005 a owl:Class ; @@ -112936,14 +115828,15 @@ OMIM:516005 a owl:Class ; PMID:7219536, PMID:8213825, PMID:9299505 ; - oboInOwl:hasDbXref UMLS:C1537994 ; oboInOwl:hasExactSynonym "MTND5", "NADH dehydrogenase, subunit 5", "complex i, subunit nd5", "nadh-ubiquinone oxidoreductase, subunit nd5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4540 ; - skos:exactMatch HGNC_symbol:MT-ND5 ; + skos:exactMatch UMLS:C1537994, + HGNC:7461, + HGNC_symbol:MT-ND5 ; biolink:category biolink:Gene . OMIM:516006 a owl:Class ; @@ -112991,14 +115884,15 @@ OMIM:516006 a owl:Class ; PMID:8644732, PMID:9012411, PMID:9849804 ; - oboInOwl:hasDbXref UMLS:C1537995 ; oboInOwl:hasExactSynonym "MTND6", "NADH dehydrogenase, subunit 6", "complex i, subunit nd6", "nadh-ubiquinone oxidoreductase, subunit nd6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4541 ; - skos:exactMatch HGNC_symbol:MT-ND6 ; + skos:exactMatch UMLS:C1537995, + HGNC:7462, + HGNC_symbol:MT-ND6 ; biolink:category biolink:Gene . OMIM:516020 a owl:Class ; @@ -113056,14 +115950,15 @@ OMIM:516020 a owl:Class ; PMID:9818877, PMID:9894887, PMID:9894888 ; - oboInOwl:hasDbXref UMLS:C1537988 ; oboInOwl:hasExactSynonym "MTCYB", "complex iii, cytochrome B subunit", "cytochrome B of complex 3", "ubiquinone-cytochrome c oxidoreductase, cytochrome B subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4519 ; - skos:exactMatch HGNC_symbol:MT-CYB ; + skos:exactMatch UMLS:C1537988, + HGNC:7427, + HGNC_symbol:MT-CYB ; biolink:category biolink:Gene . OMIM:516030 a owl:Class ; @@ -113113,13 +116008,14 @@ OMIM:516030 a owl:Class ; PMID:9742104, PMID:9806551, PMID:9832034 ; - oboInOwl:hasDbXref UMLS:C1537985 ; oboInOwl:hasExactSynonym "MTCO1", "complex iv, cytochrome c oxidase subunit 1", "cytochrome c oxidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4512 ; - skos:exactMatch HGNC_symbol:MT-CO1 ; + skos:exactMatch UMLS:C1537985, + HGNC:7419, + HGNC_symbol:MT-CO1 ; biolink:category biolink:Gene . OMIM:516040 a owl:Class ; @@ -113165,13 +116061,14 @@ OMIM:516040 a owl:Class ; PMID:9405710, PMID:9405711, PMID:9806551 ; - oboInOwl:hasDbXref UMLS:C1537986 ; oboInOwl:hasExactSynonym "MTCO2", "complex iv, cytochrome c oxidase subunit 2", "cytochrome c oxidase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4513 ; - skos:exactMatch HGNC_symbol:MT-CO2 ; + skos:exactMatch UMLS:C1537986, + HGNC:7421, + HGNC_symbol:MT-CO2 ; biolink:category biolink:Gene . OMIM:516050 a owl:Class ; @@ -113203,13 +116100,14 @@ OMIM:516050 a owl:Class ; PMID:8630495, PMID:8739943, PMID:9634511 ; - oboInOwl:hasDbXref UMLS:C1537987 ; oboInOwl:hasExactSynonym "MTCO3", "complex iv, cytochrome c oxidase subunit 3", "cytochrome c oxidase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4514 ; - skos:exactMatch HGNC_symbol:MT-CO3 ; + skos:exactMatch UMLS:C1537987, + HGNC:7422, + HGNC_symbol:MT-CO3 ; biolink:category biolink:Gene . OMIM:516060 a owl:Class ; @@ -113269,13 +116167,14 @@ OMIM:516060 a owl:Class ; PMID:9631394, PMID:9762610, PMID:9883875 ; - oboInOwl:hasDbXref UMLS:C1537983 ; oboInOwl:hasExactSynonym "MTATP6", "atp synthase 6", "complex v, atp synthase, subunit atpase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4508 ; - skos:exactMatch HGNC_symbol:MT-ATP6 ; + skos:exactMatch UMLS:C1537983, + HGNC:7414, + HGNC_symbol:MT-ATP6 ; biolink:category biolink:Gene . OMIM:516070 a owl:Class ; @@ -113285,10 +116184,6 @@ OMIM:516070 a owl:Class ; PMID:19188198, PMID:19759059, PMID:9243242 ; - oboInOwl:hasDbXref UMLS:C1537984, - UMLS:C3275685, - UMLS:C3275686, - UMLS:C3888025 ; oboInOwl:hasExactSynonym "MTATP8", "atp synthase 8", "brain pseudoatrophy, reversible, valproate-induced, susceptibility to", @@ -113297,7 +116192,12 @@ OMIM:516070 a owl:Class ; "mitochondrial complex 5 (atp synthase) deficiency, mitochondrial iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4509 ; - skos:exactMatch HGNC_symbol:MT-ATP8 ; + skos:exactMatch UMLS:C1537984, + UMLS:C3275685, + UMLS:C3275686, + UMLS:C3888025, + HGNC:7415, + HGNC_symbol:MT-ATP8 ; biolink:category biolink:Gene . OMIM:520000 a owl:Class ; @@ -113317,7 +116217,6 @@ OMIM:520000 a owl:Class ; PMID:8829651, PMID:9353617, PMID:9571188 ; - oboInOwl:hasDbXref UMLS:C0342289 ; oboInOwl:hasExactSynonym "MIDD", "ballinger-wallace syndrome", "diabetes and deafness, maternally inherited", @@ -113325,13 +116224,14 @@ OMIM:520000 a owl:Class ; "diabetes-deafness syndrome, maternally transmitted", "niddm with deafness", "noninsulin-dependent diabetes mellitus with deafness" ; + skos:exactMatch UMLS:C0342289 ; biolink:category biolink:Disease . OMIM:520100 a owl:Class ; rdfs:label "diarrhea, chronic, with villous atrophy" ; IAO:0000142 PMID:8283377 ; - oboInOwl:hasDbXref UMLS:C1838912 ; oboInOwl:hasExactSynonym "diarrhea, chronic, with villous atrophy" ; + skos:exactMatch UMLS:C1838912 ; biolink:category biolink:Disease . OMIM:530000 a owl:Class ; @@ -113388,7 +116288,6 @@ OMIM:530000 a owl:Class ; PMID:9361028, PMID:9727847, PMID:9916807 ; - oboInOwl:hasDbXref UMLS:C0022541 ; oboInOwl:hasExactSynonym "KSS", "chronic progressive external ophthalmoplegia with myopathy", "cpeo with myopathy", @@ -113399,6 +116298,7 @@ OMIM:530000 a owl:Class ; "ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy", "ophthalmoplegia, progressive external, with ragged-red fibers", "ophthalmoplegia-plus syndrome" ; + skos:exactMatch UMLS:C0022541 ; biolink:category biolink:Disease . OMIM:535000 a owl:Class ; @@ -113518,9 +116418,9 @@ OMIM:535000 a owl:Class ; PMID:8755941, PMID:9147893, PMID:9237501 ; - oboInOwl:hasDbXref UMLS:C0917796 ; oboInOwl:hasExactSynonym "leber hereditary optic neuropathy", "leber optic atrophy" ; + skos:exactMatch UMLS:C0917796 ; biolink:category biolink:Disease . OMIM:540000 a owl:Class ; @@ -113555,10 +116455,10 @@ OMIM:540000 a owl:Class ; PMID:7669057, PMID:8069654, PMID:8442706 ; - oboInOwl:hasDbXref UMLS:C0162671 ; oboInOwl:hasExactSynonym "MELAS", "melas syndrome", "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes" ; + skos:exactMatch UMLS:C0162671 ; biolink:category biolink:Disease . OMIM:545000 a owl:Class ; @@ -113577,10 +116477,10 @@ OMIM:545000 a owl:Class ; PMID:7669057, PMID:8069654, PMID:8447321 ; - oboInOwl:hasDbXref UMLS:C0162672 ; oboInOwl:hasExactSynonym "MERRF", "merrf syndrome", "myoclonic epilepsy associated with ragged-red fibers" ; + skos:exactMatch UMLS:C0162672 ; biolink:category biolink:Disease . OMIM:550000 a owl:Class ; @@ -113590,8 +116490,8 @@ OMIM:550000 a owl:Class ; OMIM:550500 a owl:Class ; rdfs:label "myoglobinuria, recurrent" ; IAO:0000142 PMID:1929207 ; - oboInOwl:hasDbXref UMLS:C1838877 ; oboInOwl:hasExactSynonym "myoglobinuria, recurrent" ; + skos:exactMatch UMLS:C1838877 ; biolink:category biolink:Disease . OMIM:550900 a owl:Class ; @@ -113603,17 +116503,17 @@ OMIM:551000 a owl:Class ; IAO:0000142 PMID:1379415, PMID:1645537, PMID:2549452 ; - oboInOwl:hasDbXref UMLS:C1838876 ; oboInOwl:hasExactSynonym "LIMM", "mitochondrial myopathy, lethal, infantile" ; + skos:exactMatch UMLS:C1838876 ; biolink:category biolink:Disease . OMIM:551200 a owl:Class ; rdfs:label "nephropathy, chronic tubulointerstitial" ; IAO:0000142 PMID:8072250, PMID:9099838 ; - oboInOwl:hasDbXref UMLS:C1838875 ; oboInOwl:hasExactSynonym "nephropathy, chronic tubulointerstitial" ; + skos:exactMatch UMLS:C1838875 ; biolink:category biolink:Disease . OMIM:551500 a owl:Class ; @@ -113621,9 +116521,9 @@ OMIM:551500 a owl:Class ; IAO:0000142 PMID:10676807, PMID:19667215, PMID:2137962 ; - oboInOwl:hasDbXref UMLS:C1328349 ; oboInOwl:hasExactSynonym "narp syndrome", "neuropathy, ataxia, and retinitis pigmentosa" ; + skos:exactMatch UMLS:C1328349 ; biolink:category biolink:Disease . OMIM:553000 a owl:Class ; @@ -113634,8 +116534,8 @@ OMIM:553000 a owl:Class ; PMID:2487148, PMID:9109935, PMID:9679872 ; - oboInOwl:hasDbXref UMLS:C1510502 ; oboInOwl:hasExactSynonym "oncocytoma" ; + skos:exactMatch UMLS:C1510502 ; biolink:category biolink:Disease . OMIM:555000 a owl:Class ; @@ -113660,8 +116560,8 @@ OMIM:556500 a owl:Class ; PMID:8871587, PMID:8978068, PMID:9529370 ; - oboInOwl:hasDbXref UMLS:C1838867 ; oboInOwl:hasExactSynonym "parkinson disease, mitochondrial" ; + skos:exactMatch UMLS:C1838867 ; biolink:category biolink:Disease . OMIM:557000 a owl:Class ; @@ -113683,16 +116583,16 @@ OMIM:557000 a owl:Class ; PMID:7680315, PMID:7874110, PMID:9467460 ; - oboInOwl:hasDbXref UMLS:C0342784 ; oboInOwl:hasExactSynonym "pearson marrow-pancreas syndrome", "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" ; + skos:exactMatch UMLS:C0342784 ; biolink:category biolink:Disease . OMIM:560000 a owl:Class ; rdfs:label "renal tubulopathy, diabetes mellitus, and cerebellar ataxia" ; IAO:0000142 PMID:1531167 ; - oboInOwl:hasDbXref UMLS:C3151959 ; oboInOwl:hasExactSynonym "renal tubulopathy, diabetes mellitus, and cerebellar ataxia" ; + skos:exactMatch UMLS:C3151959 ; biolink:category biolink:Disease . OMIM:561000 a owl:Class ; @@ -113742,26 +116642,28 @@ OMIM:561000 a owl:Class ; PMID:9779807, PMID:9887373, PMID:9915970 ; - oboInOwl:hasDbXref UMLS:C1537996 ; oboInOwl:hasExactSynonym "MTRNR1", "ribosomal rna, mitochondrial, 12s", "rrna, 12s, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4549 ; - skos:exactMatch HGNC_symbol:MT-RNR1 ; + skos:exactMatch UMLS:C1537996, + HGNC:7470, + HGNC_symbol:MT-RNR1 ; biolink:category biolink:Gene . OMIM:590000 a owl:Class ; rdfs:label "MTTA" ; IAO:0000142 PMID:14569122, PMID:16476954 ; - oboInOwl:hasDbXref UMLS:C1537998 ; oboInOwl:hasExactSynonym "MTTA", "transfer rna, mitochondrial, alanine", "trna-ala, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4553 ; - skos:exactMatch HGNC_symbol:MT-TA ; + skos:exactMatch UMLS:C1537998, + HGNC:7475, + HGNC_symbol:MT-TA ; biolink:category biolink:Gene . OMIM:590005 a owl:Class ; @@ -113770,13 +116672,14 @@ OMIM:590005 a owl:Class ; PMID:11175788, PMID:15286228, PMID:19809478 ; - oboInOwl:hasDbXref UMLS:C1538012 ; oboInOwl:hasExactSynonym "MTTR", "transfer rna, mitochondrial, arginine", "trna-arg, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4573 ; - skos:exactMatch HGNC_symbol:MT-TR ; + skos:exactMatch UMLS:C1538012, + HGNC:7496, + HGNC_symbol:MT-TR ; biolink:category biolink:Gene . OMIM:590010 a owl:Class ; @@ -113787,27 +116690,29 @@ OMIM:590010 a owl:Class ; PMID:8254013, PMID:8254046, PMID:9372914 ; - oboInOwl:hasDbXref UMLS:C1538009, - UMLS:C4722143 ; oboInOwl:hasExactSynonym "MTTN", "mitochondrial complex 1 deficiency, mitochondrial iia 2", "transfer rna, mitochondrial, asparagine", "trna-asn, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4570 ; - skos:exactMatch HGNC_symbol:MT-TN ; + skos:exactMatch UMLS:C1538009, + UMLS:C4722143, + HGNC:7493, + HGNC_symbol:MT-TN ; biolink:category biolink:Gene . OMIM:590015 a owl:Class ; rdfs:label "MTTD" ; IAO:0000142 PMID:16059939 ; - oboInOwl:hasDbXref UMLS:C1538000 ; oboInOwl:hasExactSynonym "MTTD", "transfer rna, mitochondrial, aspartic acid", "trna-asp, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4555 ; - skos:exactMatch HGNC_symbol:MT-TD ; + skos:exactMatch UMLS:C1538000, + HGNC:7478, + HGNC_symbol:MT-TD ; biolink:category biolink:Gene . OMIM:590020 a owl:Class ; @@ -113815,13 +116720,14 @@ OMIM:590020 a owl:Class ; IAO:0000142 PMID:17724295, PMID:8829635, PMID:9185178 ; - oboInOwl:hasDbXref UMLS:C1537999 ; oboInOwl:hasExactSynonym "MTTC", "transfer rna, mitochondrial, cysteine", "trna-cys, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4511 ; - skos:exactMatch HGNC_symbol:MT-TC ; + skos:exactMatch UMLS:C1537999, + HGNC:7477, + HGNC_symbol:MT-TC ; biolink:category biolink:Gene . OMIM:590025 a owl:Class ; @@ -113838,13 +116744,14 @@ OMIM:590025 a owl:Class ; PMID:7726154, PMID:7726155, PMID:9353617 ; - oboInOwl:hasDbXref UMLS:C1538001 ; oboInOwl:hasExactSynonym "MTTE", "transfer rna, mitochondrial, glutamic acid", "trna-glu, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4556 ; - skos:exactMatch HGNC_symbol:MT-TE ; + skos:exactMatch UMLS:C1538001, + HGNC:7479, + HGNC_symbol:MT-TE ; biolink:category biolink:Gene . OMIM:590030 a owl:Class ; @@ -113852,13 +116759,14 @@ OMIM:590030 a owl:Class ; IAO:0000142 PMID:10996779, PMID:11171912, PMID:11424923 ; - oboInOwl:hasDbXref UMLS:C1538011 ; oboInOwl:hasExactSynonym "MTTQ", "transfer rna, mitochondrial, glutamine", "trna-gln, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4572 ; - skos:exactMatch HGNC_symbol:MT-TQ ; + skos:exactMatch UMLS:C1538011, + HGNC:7495, + HGNC_symbol:MT-TQ ; biolink:category biolink:Gene . OMIM:590035 a owl:Class ; @@ -113869,13 +116777,14 @@ OMIM:590035 a owl:Class ; PMID:8079988, PMID:8888049, PMID:9207786 ; - oboInOwl:hasDbXref UMLS:C1538003 ; oboInOwl:hasExactSynonym "MTTG", "transfer rna, mitochondrial, glycine", "trna-gly, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4563 ; - skos:exactMatch HGNC_symbol:MT-TG ; + skos:exactMatch UMLS:C1538003, + HGNC:7486, + HGNC_symbol:MT-TG ; biolink:category biolink:Gene . OMIM:590040 a owl:Class ; @@ -113886,13 +116795,14 @@ OMIM:590040 a owl:Class ; PMID:14967777, PMID:15111688, PMID:21931169 ; - oboInOwl:hasDbXref UMLS:C1538004 ; oboInOwl:hasExactSynonym "MTTH", "transfer rna, mitochondrial, histidine", "trna-his, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4564 ; - skos:exactMatch HGNC_symbol:MT-TH ; + skos:exactMatch UMLS:C1538004, + HGNC:7487, + HGNC_symbol:MT-TH ; biolink:category biolink:Gene . OMIM:590045 a owl:Class ; @@ -113908,13 +116818,14 @@ OMIM:590045 a owl:Class ; PMID:22241583, PMID:8889580, PMID:9466989 ; - oboInOwl:hasDbXref UMLS:C1538005 ; oboInOwl:hasExactSynonym "MTTI", "transfer rna, mitochondrial, isoleucine", "trna-ile, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4565 ; - skos:exactMatch HGNC_symbol:MT-TI ; + skos:exactMatch UMLS:C1538005, + HGNC:7488, + HGNC_symbol:MT-TI ; biolink:category biolink:Gene . OMIM:590050 a owl:Class ; @@ -114011,13 +116922,14 @@ OMIM:590050 a owl:Class ; PMID:9619647, PMID:9683591, PMID:9798744 ; - oboInOwl:hasDbXref UMLS:C1417474 ; oboInOwl:hasExactSynonym "MTTL1", "transfer rna, mitochondrial, leucine, 1", "trna-leu, mitochondrial, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4567 ; - skos:exactMatch HGNC_symbol:MT-TL1 ; + skos:exactMatch UMLS:C1417474, + HGNC:7490, + HGNC_symbol:MT-TL1 ; biolink:category biolink:Gene . OMIM:590055 a owl:Class ; @@ -114026,13 +116938,14 @@ OMIM:590055 a owl:Class ; PMID:11313776, PMID:8923013, PMID:9012410 ; - oboInOwl:hasDbXref UMLS:C1838813 ; oboInOwl:hasExactSynonym "MTTL2", "transfer rna, mitochondrial, leucine, 2", "trna-leu, mitochondrial, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4568 ; - skos:exactMatch HGNC_symbol:MT-TL2 ; + skos:exactMatch UMLS:C1838813, + HGNC:7491, + HGNC_symbol:MT-TL2 ; biolink:category biolink:Gene . OMIM:590060 a owl:Class ; @@ -114076,13 +116989,14 @@ OMIM:590060 a owl:Class ; PMID:9529371, PMID:9571188, PMID:9674814 ; - oboInOwl:hasDbXref UMLS:C1538006 ; oboInOwl:hasExactSynonym "MTTK", "transfer rna, mitochondrial, lysine", "trna-lys, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4566 ; - skos:exactMatch HGNC_symbol:MT-TK ; + skos:exactMatch UMLS:C1538006, + HGNC:7489, + HGNC_symbol:MT-TK ; biolink:category biolink:Gene . OMIM:590065 a owl:Class ; @@ -114092,13 +117006,14 @@ OMIM:590065 a owl:Class ; PMID:27356879, PMID:27497299, PMID:9633749 ; - oboInOwl:hasDbXref UMLS:C1538008 ; oboInOwl:hasExactSynonym "MTTM", "transfer rna, mitochondrial, methionine", "trna-met, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4569 ; - skos:exactMatch HGNC_symbol:MT-TM ; + skos:exactMatch UMLS:C1538008, + HGNC:7492, + HGNC_symbol:MT-TM ; biolink:category biolink:Gene . OMIM:590070 a owl:Class ; @@ -114114,13 +117029,14 @@ OMIM:590070 a owl:Class ; PMID:28082677, PMID:6093682, PMID:9771776 ; - oboInOwl:hasDbXref UMLS:C1538002 ; oboInOwl:hasExactSynonym "MTTF", "transfer rna, mitochondrial, phenylalanine", "trna-phe, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4558 ; - skos:exactMatch HGNC_symbol:MT-TF ; + skos:exactMatch UMLS:C1538002, + HGNC:7481, + HGNC_symbol:MT-TF ; biolink:category biolink:Gene . OMIM:590075 a owl:Class ; @@ -114128,13 +117044,14 @@ OMIM:590075 a owl:Class ; IAO:0000142 PMID:10369889, PMID:19273760, PMID:7689388 ; - oboInOwl:hasDbXref UMLS:C1538010 ; oboInOwl:hasExactSynonym "MTTP", "transfer rna, mitochondrial, proline", "trna-pro, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4571 ; - skos:exactMatch HGNC_symbol:MT-TP ; + skos:exactMatch UMLS:C1538010, + HGNC:7494, + HGNC_symbol:MT-TP ; biolink:category biolink:Gene . OMIM:590080 a owl:Class ; @@ -114162,13 +117079,14 @@ OMIM:590080 a owl:Class ; PMID:9450881, PMID:9742104, PMID:9832034 ; - oboInOwl:hasDbXref UMLS:C1538013 ; oboInOwl:hasExactSynonym "MTTS1", "transfer rna, mitochondrial, serine, 1", "trna-ser, mitochondrial, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4574 ; - skos:exactMatch HGNC_symbol:MT-TS1 ; + skos:exactMatch UMLS:C1538013, + HGNC:7497, + HGNC_symbol:MT-TS1 ; biolink:category biolink:Gene . OMIM:590085 a owl:Class ; @@ -114176,13 +117094,14 @@ OMIM:590085 a owl:Class ; IAO:0000142 PMID:10090882, PMID:16950817, PMID:9792552 ; - oboInOwl:hasDbXref UMLS:C1538014 ; oboInOwl:hasExactSynonym "MTTS2", "transfer rna, mitochondrial, serine, 2", "trna-ser, mitochondrial, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4575 ; - skos:exactMatch HGNC_symbol:MT-TS2 ; + skos:exactMatch UMLS:C1538014, + HGNC:7498, + HGNC_symbol:MT-TS2 ; biolink:category biolink:Gene . OMIM:590090 a owl:Class ; @@ -114191,13 +117110,14 @@ OMIM:590090 a owl:Class ; PMID:1379415, PMID:1645537, PMID:23736300 ; - oboInOwl:hasDbXref UMLS:C1538015 ; oboInOwl:hasExactSynonym "MTTT", "transfer rna, mitochondrial, threonine", "trna-thr, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4576 ; - skos:exactMatch HGNC_symbol:MT-TT ; + skos:exactMatch UMLS:C1538015, + HGNC:7499, + HGNC_symbol:MT-TT ; biolink:category biolink:Gene . OMIM:590095 a owl:Class ; @@ -114209,13 +117129,14 @@ OMIM:590095 a owl:Class ; PMID:7695240, PMID:9266739, PMID:9673981 ; - oboInOwl:hasDbXref UMLS:C1538017 ; oboInOwl:hasExactSynonym "MTTW", "transfer rna, mitochondrial, tryptophan", "trna-trp, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4578 ; - skos:exactMatch HGNC_symbol:MT-TW ; + skos:exactMatch UMLS:C1538017, + HGNC:7501, + HGNC_symbol:MT-TW ; biolink:category biolink:Gene . OMIM:590100 a owl:Class ; @@ -114224,13 +117145,14 @@ OMIM:590100 a owl:Class ; PMID:11594340, PMID:11756614, PMID:14598342 ; - oboInOwl:hasDbXref UMLS:C1538018 ; oboInOwl:hasExactSynonym "MTTY", "transfer rna, mitochondrial, tyrosine", "trna-tyr, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4579 ; - skos:exactMatch HGNC_symbol:MT-TY ; + skos:exactMatch UMLS:C1538018, + HGNC:7502, + HGNC_symbol:MT-TY ; biolink:category biolink:Gene . OMIM:590105 a owl:Class ; @@ -114239,16 +117161,17 @@ OMIM:590105 a owl:Class ; PMID:12056939, PMID:32715519, PMID:9450773 ; - oboInOwl:hasDbXref UMLS:C0023264, - UMLS:C1538016, - UMLS:C4016634, - UMLS:C5435765 ; oboInOwl:hasExactSynonym "MTTV", "transfer rna, mitochondrial, valine", "trna-val, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4577 ; - skos:exactMatch HGNC_symbol:MT-TV ; + skos:exactMatch UMLS:C0023264, + UMLS:C1538016, + UMLS:C4016634, + UMLS:C5435765, + HGNC:7500, + HGNC_symbol:MT-TV ; biolink:category biolink:Gene . OMIM:598500 a owl:Class ; @@ -114260,18 +117183,18 @@ OMIM:598500 a owl:Class ; PMID:8383698, PMID:8601620, PMID:9027481 ; - oboInOwl:hasDbXref UMLS:C1838782 ; oboInOwl:hasExactSynonym "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form", "didmoad syndrome, mitochondrial form", "wolfram syndrome, mitochondrial form" ; + skos:exactMatch UMLS:C1838782 ; biolink:category biolink:Disease . OMIM:600000 a owl:Class ; rdfs:label "spondylocamptodactyly" ; IAO:0000142 PMID:8591666 ; - oboInOwl:hasDbXref UMLS:C1838781 ; oboInOwl:hasExactSynonym "camptodactyly with cervical platyspondyly", - "spondylocamptodactyly" . + "spondylocamptodactyly" ; + skos:exactMatch UMLS:C1838781 . OMIM:600001 a owl:Class ; rdfs:label "heart defects, congenital, and other congenital anomalies" ; @@ -114280,12 +117203,12 @@ OMIM:600001 a owl:Class ; PMID:22962692, PMID:24385578, PMID:8071961 ; - oboInOwl:hasDbXref UMLS:C3888085, - UMLS:C4012454 ; oboInOwl:hasExactSynonym "HDCA", "heart defects, congenital, and other congenital anomalies", "pancreatic agenesis and congenital heart defects", "pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease" ; + skos:exactMatch UMLS:C3888085, + UMLS:C4012454 ; biolink:category biolink:Disease . OMIM:600002 a owl:Class ; @@ -114294,12 +117217,12 @@ OMIM:600002 a owl:Class ; PMID:29987841, PMID:31297790, PMID:6734674 ; - oboInOwl:hasDbXref UMLS:C1838779, - ORPHA:79106 ; oboInOwl:hasExactSynonym "EKNS", "bone modeling defect of hands and feet", "eiken skeletal dysplasia", "eiken syndrome" ; + skos:exactMatch UMLS:C1838779, + ORPHA:79106 ; biolink:category biolink:Disease . OMIM:600003 a owl:Class ; @@ -114318,7 +117241,6 @@ OMIM:600003 a owl:Class ; PMID:9594024 ; RO:0002525 CHR:9606chr10p12.33-p12.31 ; RO:0003303 OMIM:611876 ; - oboInOwl:hasDbXref UMLS:C1413068 ; oboInOwl:hasExactSynonym "CACNB2", "ca(v) beta-2", "calcium channel, voltage-dependent, beta-2 subunit", @@ -114326,7 +117248,9 @@ OMIM:600003 a owl:Class ; "myasthenic syndrome antigen B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:783 ; - skos:exactMatch HGNC_symbol:CACNB2 ; + skos:exactMatch UMLS:C1413068, + HGNC:1402, + HGNC_symbol:CACNB2 ; biolink:category biolink:Gene . OMIM:600005 a owl:Class ; @@ -114355,7 +117279,6 @@ OMIM:600005 a owl:Class ; PMID:9177217 ; RO:0002525 CHR:9606chr16p13.13 ; RO:0003303 OMIM:180300 ; - oboInOwl:hasDbXref UMLS:C1824738 ; oboInOwl:hasExactSynonym "CIITA", "class 2 major histocompatibility complex transactivator", "class 2 transactivator", @@ -114363,7 +117286,9 @@ OMIM:600005 a owl:Class ; "mhc class 2 transactivator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4261 ; - skos:exactMatch HGNC_symbol:CIITA ; + skos:exactMatch UMLS:C1824738, + HGNC:7067, + HGNC_symbol:CIITA ; biolink:category biolink:Gene . OMIM:600006 a owl:Class ; @@ -114373,12 +117298,13 @@ OMIM:600006 a owl:Class ; PMID:8289803, PMID:8600444, PMID:8661125 ; - oboInOwl:hasDbXref UMLS:C1419359 ; oboInOwl:hasExactSynonym "RFX1", "regulatory factor x, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5989 ; - skos:exactMatch HGNC_symbol:RFX1 ; + skos:exactMatch UMLS:C1419359, + HGNC:9982, + HGNC_symbol:RFX1 ; biolink:category biolink:Gene . OMIM:600007 a owl:Class ; @@ -114387,13 +117313,14 @@ OMIM:600007 a owl:Class ; PMID:7505204, PMID:8145851, PMID:8180375 ; - oboInOwl:hasDbXref UMLS:C1333567 ; oboInOwl:hasExactSynonym "FLT3LG", "flt3 ligand", "fms-related tyrosine kinase 3 ligand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2323 ; - skos:exactMatch HGNC_symbol:FLT3LG ; + skos:exactMatch UMLS:C1333567, + HGNC:3766, + HGNC_symbol:FLT3LG ; biolink:category biolink:Gene . OMIM:600008 a owl:Class ; @@ -114404,25 +117331,27 @@ OMIM:600008 a owl:Class ; PMID:8182091, PMID:8575745 ; RO:0002525 CHR:9606chr11q23.2 ; - oboInOwl:hasDbXref UMLS:C1417748 ; oboInOwl:hasExactSynonym "NNMT", "nicotinamide n-methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4837 ; - skos:exactMatch HGNC_symbol:NNMT ; + skos:exactMatch UMLS:C1417748, + HGNC:7861, + HGNC_symbol:NNMT ; biolink:category biolink:Gene . OMIM:600009 a owl:Class ; rdfs:label "IFI27" ; IAO:0000142 PMID:8358738 ; - oboInOwl:hasDbXref UMLS:C1415887 ; oboInOwl:hasExactSynonym "IFI27", "interferon-alpha-inducible protein 27", "interferon-stimulated gene 12", "isg12a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3429 ; - skos:exactMatch HGNC_symbol:IFI27 ; + skos:exactMatch UMLS:C1415887, + HGNC:5397, + HGNC_symbol:IFI27 ; biolink:category biolink:Gene . OMIM:600010 a owl:Class ; @@ -114433,13 +117362,14 @@ OMIM:600010 a owl:Class ; PMID:16951258, PMID:30305733, PMID:8188699 ; - oboInOwl:hasDbXref UMLS:C1416457 ; oboInOwl:hasExactSynonym "INSM1", "ia1", "insulinoma-associated 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3642 ; - skos:exactMatch HGNC_symbol:INSM1 ; + skos:exactMatch UMLS:C1416457, + HGNC:6090, + HGNC_symbol:INSM1 ; biolink:category biolink:Gene . OMIM:600011 a owl:Class ; @@ -114459,7 +117389,6 @@ OMIM:600011 a owl:Class ; PMID:8831703 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:617300 ; - oboInOwl:hasDbXref UMLS:C1414431 ; oboInOwl:hasExactSynonym "EPHB4", "ephrin receptor ephb4", "hepatoma transmembrane kinase", @@ -114467,21 +117396,24 @@ OMIM:600011 a owl:Class ; "tyro11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2050 ; - skos:exactMatch HGNC_symbol:EPHB4 ; + skos:exactMatch UMLS:C1414431, + HGNC:3395, + HGNC_symbol:EPHB4 ; biolink:category biolink:Gene . OMIM:600012 a owl:Class ; rdfs:label "UBE2L1" ; IAO:0000142 PMID:8563171, PMID:8672131 ; - oboInOwl:hasDbXref UMLS:C1421284 ; oboInOwl:hasExactSynonym "UBE2L1", "ubc4, s. cerevisiae, homolog of", "ubiquitin-conjugating enzyme e2l 1", "ubiquitin-conjugating enzyme l-ubc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283556 ; - skos:exactMatch HGNC_symbol:UBE2L1 ; + skos:exactMatch UMLS:C1421284, + HGNC:12486, + HGNC_symbol:UBE2L1 ; biolink:category biolink:Gene . OMIM:600013 a owl:Class ; @@ -114511,13 +117443,14 @@ OMIM:600013 a owl:Class ; PMID:9685495 ; RO:0002525 CHR:9606chr14q32.2 ; RO:0003303 OMIM:617557 ; - oboInOwl:hasDbXref UMLS:C1421565 ; oboInOwl:hasExactSynonym "YY1", "transcription factor yy1", "yin yang 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7528 ; - skos:exactMatch HGNC_symbol:YY1 ; + skos:exactMatch UMLS:C1421565, + HGNC:12856, + HGNC_symbol:YY1 ; biolink:category biolink:Gene . OMIM:600014 a owl:Class ; @@ -114538,7 +117471,6 @@ OMIM:600014 a owl:Class ; PMID:9521582 ; RO:0002525 CHR:9606chr9p24.3 ; RO:0003303 OMIM:601358 ; - oboInOwl:hasDbXref UMLS:C1335841 ; oboInOwl:hasExactSynonym "SMARCA2", "brm, drosophila, homolog of", "snf2-like 2", @@ -114547,7 +117479,9 @@ OMIM:600014 a owl:Class ; "swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6595 ; - skos:exactMatch HGNC_symbol:SMARCA2 ; + skos:exactMatch UMLS:C1335841, + HGNC:11098, + HGNC_symbol:SMARCA2 ; biolink:category biolink:Gene . OMIM:600015 a owl:Class ; @@ -114564,12 +117498,13 @@ OMIM:600016 a owl:Class ; PMID:7959734 ; RO:0002525 CHR:9606chr12q12 ; RO:0003303 OMIM:612540 ; - oboInOwl:hasDbXref UMLS:C1413559 ; oboInOwl:hasExactSynonym "CNTN1", "contactin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1272 ; - skos:exactMatch HGNC_symbol:CNTN1 ; + skos:exactMatch UMLS:C1413559, + HGNC:2171, + HGNC_symbol:CNTN1 ; biolink:category biolink:Gene . OMIM:600017 a owl:Class ; @@ -114586,7 +117521,6 @@ OMIM:600017 a owl:Class ; PMID:7626103, PMID:7916598, PMID:7959737 ; - oboInOwl:hasDbXref UMLS:C1419894 ; oboInOwl:hasExactSynonym "SDC4", "amphiglycan", "ryudocan", @@ -114594,7 +117528,9 @@ OMIM:600017 a owl:Class ; "syndecan 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6385 ; - skos:exactMatch HGNC_symbol:SDC4 ; + skos:exactMatch UMLS:C1419894, + HGNC:10661, + HGNC_symbol:SDC4 ; biolink:category biolink:Gene . OMIM:600018 a owl:Class ; @@ -114641,7 +117577,6 @@ OMIM:600018 a owl:Class ; PMID:9193881, PMID:9477150, PMID:9689128 ; - oboInOwl:hasDbXref UMLS:C1417965 ; oboInOwl:hasExactSynonym "OPRM1", "mor1", "mu opioid receptor", @@ -114649,7 +117584,9 @@ OMIM:600018 a owl:Class ; "oprm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4988 ; - skos:exactMatch HGNC_symbol:OPRM1 ; + skos:exactMatch UMLS:C1417965, + HGNC:8156, + HGNC_symbol:OPRM1 ; biolink:category biolink:Gene . OMIM:600019 a owl:Class ; @@ -114660,12 +117597,13 @@ OMIM:600019 a owl:Class ; PMID:7959749 ; RO:0002525 CHR:9606chr17q23.3 ; RO:0003303 OMIM:618182 ; - oboInOwl:hasDbXref UMLS:C1413837 ; oboInOwl:hasExactSynonym "CYB561", "cytochrome b561" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1534 ; - skos:exactMatch HGNC_symbol:CYB561 ; + skos:exactMatch UMLS:C1413837, + HGNC:2571, + HGNC_symbol:CYB561 ; biolink:category biolink:Gene . OMIM:600020 a owl:Class ; @@ -114683,12 +117621,13 @@ OMIM:600020 a owl:Class ; PMID:9669667 ; RO:0002525 CHR:9606chr10q25.2 ; RO:0003303 OMIM:176807 ; - oboInOwl:hasDbXref UMLS:C1334536 ; oboInOwl:hasExactSynonym "MXI1", "max-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4601 ; - skos:exactMatch HGNC_symbol:MXI1 ; + skos:exactMatch UMLS:C1334536, + HGNC:7534, + HGNC_symbol:MXI1 ; biolink:category biolink:Gene . OMIM:600021 a owl:Class ; @@ -114696,14 +117635,15 @@ OMIM:600021 a owl:Class ; IAO:0000142 PMID:12553908, PMID:7829091, PMID:8290278 ; - oboInOwl:hasDbXref UMLS:C1337107 ; oboInOwl:hasExactSynonym "MXD1", "bhlhc58", "mad1", "max dimerization protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4084 ; - skos:exactMatch HGNC_symbol:MXD1 ; + skos:exactMatch UMLS:C1337107, + HGNC:6761, + HGNC_symbol:MXD1 ; biolink:category biolink:Gene . OMIM:600022 a owl:Class ; @@ -114716,14 +117656,15 @@ OMIM:600022 a owl:Class ; PMID:7938166, PMID:8833158, PMID:9262402 ; - oboInOwl:hasDbXref UMLS:C1419070 ; oboInOwl:hasExactSynonym "PTGIR", "prostacyclin receptor", "prostaglandin i2 receptor", "prostanoid 1p receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5739 ; - skos:exactMatch HGNC_symbol:PTGIR ; + skos:exactMatch UMLS:C1419070, + HGNC:9602, + HGNC_symbol:PTGIR ; biolink:category biolink:Gene . OMIM:600023 a owl:Class ; @@ -114741,15 +117682,16 @@ OMIM:600023 a owl:Class ; PMID:9615235 ; RO:0002525 CHR:9606chr16q21 ; RO:0003303 OMIM:619736 ; - oboInOwl:hasDbXref UMLS:C0809936, - UMLS:C1413269 ; oboInOwl:hasExactSynonym "CDH11", "cadherin 11", "cadherin, osteoblast", "ob-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1009 ; - skos:exactMatch HGNC_symbol:CDH11 ; + skos:exactMatch UMLS:C0809936, + UMLS:C1413269, + HGNC:1750, + HGNC_symbol:CDH11 ; biolink:category biolink:Gene . OMIM:600024 a owl:Class ; @@ -114776,17 +117718,18 @@ OMIM:600024 a owl:Class ; PMID:8838815 ; RO:0002525 CHR:9606chr1q42.12 ; RO:0003303 OMIM:169400 ; - oboInOwl:hasDbXref UMLS:C0030779, - UMLS:C0748397, - UMLS:C1416802, - UMLS:C2931048, - UMLS:C4747922 ; oboInOwl:hasExactSynonym "LBR", "lamin B receptor", "lmn2r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3930 ; - skos:exactMatch HGNC_symbol:LBR ; + skos:exactMatch UMLS:C0030779, + UMLS:C0748397, + UMLS:C1416802, + UMLS:C2931048, + UMLS:C4747922, + HGNC:6518, + HGNC_symbol:LBR ; biolink:category biolink:Gene . OMIM:600025 a owl:Class ; @@ -114798,7 +117741,6 @@ OMIM:600025 a owl:Class ; PMID:8786116, PMID:8945637, PMID:9624122 ; - oboInOwl:hasDbXref UMLS:C1416692 ; oboInOwl:hasExactSynonym "KLC1", "kinesin 2", "kinesin light chain 1", @@ -114806,14 +117748,15 @@ OMIM:600025 a owl:Class ; "kns2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3831 ; - skos:exactMatch HGNC_symbol:KLC1 ; + skos:exactMatch UMLS:C1416692, + HGNC:6387, + HGNC_symbol:KLC1 ; biolink:category biolink:Gene . OMIM:600026 a owl:Class ; rdfs:label "SNTB1" ; IAO:0000142 PMID:8119949, PMID:8183929 ; - oboInOwl:hasDbXref UMLS:C1420297 ; oboInOwl:hasExactSynonym "SNTB1", "dapa1b", "dystrophin-associated protein, basic a1", @@ -114821,7 +117764,9 @@ OMIM:600026 a owl:Class ; "syntrophin, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6641 ; - skos:exactMatch HGNC_symbol:SNTB1 ; + skos:exactMatch UMLS:C1420297, + HGNC:11168, + HGNC_symbol:SNTB1 ; biolink:category biolink:Gene . OMIM:600028 a owl:Class ; @@ -114848,12 +117793,13 @@ OMIM:600028 a owl:Class ; PMID:7987313 ; RO:0002525 CHR:9606chr7q21.3 ; RO:0003303 OMIM:183600 ; - oboInOwl:hasDbXref UMLS:C1414079 ; oboInOwl:hasExactSynonym "DLX5", "distal-less homeobox 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1749 ; - skos:exactMatch HGNC_symbol:DLX5 ; + skos:exactMatch UMLS:C1414079, + HGNC:2918, + HGNC_symbol:DLX5 ; biolink:category biolink:Gene . OMIM:600029 a owl:Class ; @@ -114864,12 +117810,13 @@ OMIM:600029 a owl:Class ; PMID:16007083, PMID:16688724, PMID:7907794 ; - oboInOwl:hasDbXref UMLS:C1414075 ; oboInOwl:hasExactSynonym "DLX1", "distal-less homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1745 ; - skos:exactMatch HGNC_symbol:DLX1 ; + skos:exactMatch UMLS:C1414075, + HGNC:2914, + HGNC_symbol:DLX1 ; biolink:category biolink:Gene . OMIM:600030 a owl:Class ; @@ -114885,12 +117832,13 @@ OMIM:600030 a owl:Class ; PMID:21108385, PMID:26512061, PMID:7907794 ; - oboInOwl:hasDbXref UMLS:C1414080 ; oboInOwl:hasExactSynonym "DLX6", "distal-less homeobox 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1750 ; - skos:exactMatch HGNC_symbol:DLX6 ; + skos:exactMatch UMLS:C1414080, + HGNC:2919, + HGNC_symbol:DLX6 ; biolink:category biolink:Gene . OMIM:600031 a owl:Class ; @@ -114904,7 +117852,6 @@ OMIM:600031 a owl:Class ; PMID:9748235 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:614122 ; - oboInOwl:hasDbXref UMLS:C1413391 ; oboInOwl:hasExactSynonym "CHIT1", "chitinase 1", "chitinase, macrophage", @@ -114912,7 +117859,9 @@ OMIM:600031 a owl:Class ; "methylumbelliferyl-tetra-n-acetylchitotetraoside hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1118 ; - skos:exactMatch HGNC_symbol:CHIT1 ; + skos:exactMatch UMLS:C1413391, + HGNC:1936, + HGNC_symbol:CHIT1 ; biolink:category biolink:Gene . OMIM:600032 a owl:Class ; @@ -114929,14 +117878,15 @@ OMIM:600033 a owl:Class ; PMID:8159751, PMID:8661135, PMID:8945635 ; - oboInOwl:hasDbXref UMLS:C1420706 ; oboInOwl:hasExactSynonym "TFPI2", "placental protein 5", "retinal pigment epithelium cell factor 1", "tissue factor pathway inhibitor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7980 ; - skos:exactMatch HGNC_symbol:TFPI2 ; + skos:exactMatch UMLS:C1420706, + HGNC:11761, + HGNC_symbol:TFPI2 ; biolink:category biolink:Gene . OMIM:600034 a owl:Class ; @@ -114944,13 +117894,14 @@ OMIM:600034 a owl:Class ; IAO:0000142 PMID:1352754, PMID:1353865, PMID:7959790 ; - oboInOwl:hasDbXref UMLS:C1414393 ; oboInOwl:hasExactSynonym "EMX1", "empty spiracles homeobox 1", "empty spiracles, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2016 ; - skos:exactMatch HGNC_symbol:EMX1 ; + skos:exactMatch UMLS:C1414393, + HGNC:3340, + HGNC_symbol:EMX1 ; biolink:category biolink:Gene . OMIM:600035 a owl:Class ; @@ -114975,13 +117926,14 @@ OMIM:600035 a owl:Class ; PMID:9740666 ; RO:0002525 CHR:9606chr10q26.11 ; RO:0003303 OMIM:269160 ; - oboInOwl:hasDbXref UMLS:C1414394 ; oboInOwl:hasExactSynonym "EMX2", "empty spiracles homeobox 2", "empty spiracles, drosophila, 2, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2018 ; - skos:exactMatch HGNC_symbol:EMX2 ; + skos:exactMatch UMLS:C1414394, + HGNC:3341, + HGNC_symbol:EMX2 ; biolink:category biolink:Gene . OMIM:600036 a owl:Class ; @@ -114995,13 +117947,14 @@ OMIM:600036 a owl:Class ; PMID:7931541, PMID:7959790, PMID:8841200 ; - oboInOwl:hasDbXref UMLS:C1418201 ; oboInOwl:hasExactSynonym "OTX1", "orthodenticle homeobox 1", "orthodenticle, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5013 ; - skos:exactMatch HGNC_symbol:OTX1 ; + skos:exactMatch UMLS:C1418201, + HGNC:8521, + HGNC_symbol:OTX1 ; biolink:category biolink:Gene . OMIM:600037 a owl:Class ; @@ -115036,17 +117989,18 @@ OMIM:600037 a owl:Class ; PMID:9174161 ; RO:0002525 CHR:9606chr14q22.3 ; RO:0003303 OMIM:610125 ; - oboInOwl:hasDbXref UMLS:C1418202, - UMLS:C1864690, - UMLS:C3149814, - UMLS:C3151440, - UMLS:C4225589 ; oboInOwl:hasExactSynonym "OTX2", "orthodenticle homeobox 2", "orthodenticle, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5015 ; - skos:exactMatch HGNC_symbol:OTX2 ; + skos:exactMatch UMLS:C1418202, + UMLS:C1864690, + UMLS:C3149814, + UMLS:C3151440, + UMLS:C4225589, + HGNC:8522, + HGNC_symbol:OTX2 ; biolink:category biolink:Gene . OMIM:600038 a owl:Class ; @@ -115056,14 +118010,15 @@ OMIM:600038 a owl:Class ; PMID:8134117, PMID:8288563, PMID:8999872 ; - oboInOwl:hasDbXref UMLS:C1334485 ; oboInOwl:hasExactSynonym "MATK", "csk-type protein tyrosine kinase", "hematopoietic consensus tyrosine-lacking kinase", "megakaryoctye-associated tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4145 ; - skos:exactMatch HGNC_symbol:MATK ; + skos:exactMatch UMLS:C1334485, + HGNC:6906, + HGNC_symbol:MATK ; biolink:category biolink:Gene . OMIM:600039 a owl:Class ; @@ -115081,7 +118036,6 @@ OMIM:600039 a owl:Class ; PMID:9393856, PMID:9475763, PMID:9475764 ; - oboInOwl:hasDbXref UMLS:C1332397 ; oboInOwl:hasExactSynonym "BCL2L1", "bcl2-like 1", "bcl2-related gene", @@ -115089,7 +118043,9 @@ OMIM:600039 a owl:Class ; "bcl2-related protein, short isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:598 ; - skos:exactMatch HGNC_symbol:BCL2L1 ; + skos:exactMatch UMLS:C1332397, + HGNC:992, + HGNC_symbol:BCL2L1 ; biolink:category biolink:Gene . OMIM:600040 a owl:Class ; @@ -115133,12 +118089,13 @@ OMIM:600040 a owl:Class ; PMID:9988273 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:613065 ; - oboInOwl:hasDbXref UMLS:C0812198 ; oboInOwl:hasExactSynonym "BAX", "bcl2-associated 10 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:581 ; - skos:exactMatch HGNC_symbol:BAX ; + skos:exactMatch UMLS:C0812198, + HGNC:959, + HGNC_symbol:BAX ; biolink:category biolink:Gene . OMIM:600041 a owl:Class ; @@ -115152,14 +118109,15 @@ OMIM:600041 a owl:Class ; PMID:8159738, PMID:8643996, PMID:9286708 ; - oboInOwl:hasDbXref UMLS:C1418219 ; oboInOwl:hasExactSynonym "P2RY2", "p2u nucleotide receptor", "purinergic receptor p2y, g protein-coupled, 2", "purinoceptor p2y2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5029 ; - skos:exactMatch HGNC_symbol:P2RY2 ; + skos:exactMatch UMLS:C1418219, + HGNC:8541, + HGNC_symbol:P2RY2 ; biolink:category biolink:Gene . OMIM:600042 a owl:Class ; @@ -115168,13 +118126,14 @@ OMIM:600042 a owl:Class ; PMID:7956366, PMID:8185570, PMID:9413988 ; - oboInOwl:hasDbXref UMLS:C1417065 ; oboInOwl:hasExactSynonym "MC5R", "mc5 receptor", "melanocortin 5 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4161 ; - skos:exactMatch HGNC_symbol:MC5R ; + skos:exactMatch UMLS:C1417065, + HGNC:6933, + HGNC_symbol:MC5R ; biolink:category biolink:Gene . OMIM:600043 a owl:Class ; @@ -115184,7 +118143,6 @@ OMIM:600043 a owl:Class ; PMID:8185618, PMID:8530066, PMID:9034160 ; - oboInOwl:hasDbXref UMLS:C1420459 ; oboInOwl:hasExactSynonym "SULT1E1", "aryl sulfotransferase", "estrogen sulfotransferase, liver", @@ -115192,7 +118150,9 @@ OMIM:600043 a owl:Class ; "sulfotransferase, estrogen-preferring" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6783 ; - skos:exactMatch HGNC_symbol:SULT1E1 ; + skos:exactMatch UMLS:C1420459, + HGNC:11377, + HGNC_symbol:SULT1E1 ; biolink:category biolink:Gene . OMIM:600044 a owl:Class ; @@ -115222,7 +118182,6 @@ OMIM:600044 a owl:Class ; PMID:9694695 ; RO:0002525 CHR:9606chr3q27.1 ; RO:0003303 OMIM:187950 ; - oboInOwl:hasDbXref UMLS:C0812443 ; oboInOwl:hasExactSynonym "THPO", "megakaryocyte colony-stimulating factor", "megakaryocyte growth and development factor", @@ -115232,7 +118191,9 @@ OMIM:600044 a owl:Class ; "tpo" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7066 ; - skos:exactMatch HGNC_symbol:THPO ; + skos:exactMatch UMLS:C0812443, + HGNC:11795, + HGNC_symbol:THPO ; biolink:category biolink:Gene . OMIM:600045 a owl:Class ; @@ -115258,13 +118219,14 @@ OMIM:600045 a owl:Class ; PMID:9781049 ; RO:0002525 CHR:9606chr11q12.2 ; RO:0003303 OMIM:619426 ; - oboInOwl:hasDbXref UMLS:C1413941 ; oboInOwl:hasExactSynonym "DDB1", "DNA damage-binding protein 1", "ddb, p127 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1642 ; - skos:exactMatch HGNC_symbol:DDB1 ; + skos:exactMatch UMLS:C1413941, + HGNC:2717, + HGNC_symbol:DDB1 ; biolink:category biolink:Gene . OMIM:600046 a owl:Class ; @@ -115327,7 +118289,6 @@ OMIM:600046 a owl:Class ; PMID:9888879 ; RO:0002525 CHR:9606chr9q31.1 ; RO:0003303 OMIM:205400 ; - oboInOwl:hasDbXref UMLS:C1412058 ; oboInOwl:hasExactSynonym "ABCA1", "abc transporter 1", "atp-binding cassette 1", @@ -115336,7 +118297,9 @@ OMIM:600046 a owl:Class ; "cholesterol efflux regulatory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:19 ; - skos:exactMatch HGNC_symbol:ABCA1 ; + skos:exactMatch UMLS:C1412058, + HGNC:29, + HGNC_symbol:ABCA1 ; biolink:category biolink:Gene . OMIM:600047 a owl:Class ; @@ -115355,10 +118318,6 @@ OMIM:600047 a owl:Class ; PMID:8088782 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:618808 ; - oboInOwl:hasDbXref UMLS:C1412061, - UMLS:C2986382, - UMLS:C5394564, - UMLS:C5394565 ; oboInOwl:hasExactSynonym "ABCA2", "abc transporter 2", "atp-binding cassette 2", @@ -115367,7 +118326,12 @@ OMIM:600047 a owl:Class ; "kiaa1062" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:20 ; - skos:exactMatch HGNC_symbol:ABCA2 ; + skos:exactMatch UMLS:C1412061, + UMLS:C2986382, + UMLS:C5394564, + UMLS:C5394565, + HGNC:32, + HGNC_symbol:ABCA2 ; biolink:category biolink:Gene . OMIM:600048 a owl:Class ; @@ -115382,12 +118346,12 @@ OMIM:600049 a owl:Class ; PMID:8171026, PMID:8643684 ; RO:0002525 CHR:9606chr3q26 ; - oboInOwl:hasDbXref UMLS:C1417091, - UMLS:C1838720 ; oboInOwl:hasExactSynonym "MDS1", "mds1 gene", "mds1/aml1 fusion gene" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1417091, + UMLS:C1838720 ; biolink:category biolink:Gene . OMIM:600050 a owl:Class ; @@ -115397,14 +118361,15 @@ OMIM:600050 a owl:Class ; PMID:19955118, PMID:8183572, PMID:8938448 ; - oboInOwl:hasDbXref UMLS:C1417010 ; oboInOwl:hasExactSynonym "MAP3K11", "mitogen-activated protein kinase kinase kinase 11", "mixed-lineage protein kinase 3", "protein-tyrosine kinase ptk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4296 ; - skos:exactMatch HGNC_symbol:MAP3K11 ; + skos:exactMatch UMLS:C1417010, + HGNC:6850, + HGNC_symbol:MAP3K11 ; biolink:category biolink:Gene . OMIM:600051 a owl:Class ; @@ -115417,13 +118382,14 @@ OMIM:600051 a owl:Class ; PMID:8183552, PMID:8479753, PMID:9446614 ; - oboInOwl:hasDbXref UMLS:C1333343 ; oboInOwl:hasExactSynonym "EPS15", "all1-fused gene from chromosome 1", "epidermal growth factor receptor pathway substrate 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2060 ; - skos:exactMatch HGNC_symbol:EPS15 ; + skos:exactMatch UMLS:C1333343, + HGNC:3419, + HGNC_symbol:EPS15 ; biolink:category biolink:Gene . OMIM:600052 a owl:Class ; @@ -115435,14 +118401,15 @@ OMIM:600052 a owl:Class ; PMID:24407481, PMID:8294032, PMID:9792798 ; - oboInOwl:hasDbXref UMLS:C1412289 ; oboInOwl:hasExactSynonym "APLNR", "angiotensin receptor-like 1", "apelin receptor", "apj putative receptor protein related to angiotensin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:187 ; - skos:exactMatch HGNC_symbol:APLNR ; + skos:exactMatch UMLS:C1412289, + HGNC:339, + HGNC_symbol:APLNR ; biolink:category biolink:Gene . OMIM:600053 a owl:Class ; @@ -115462,14 +118429,15 @@ OMIM:600053 a owl:Class ; PMID:9721202 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:216900 ; - oboInOwl:hasDbXref UMLS:C1413545 ; oboInOwl:hasExactSynonym "CNGA3", "cone photoreceptor cgmp-gated channel", "cyclic nucleotide-gated channel, alpha-3", "cyclic nucleotide-gated channel, olfactory, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1261 ; - skos:exactMatch HGNC_symbol:CNGA3 ; + skos:exactMatch UMLS:C1413545, + HGNC:2150, + HGNC_symbol:CNGA3 ; biolink:category biolink:Gene . OMIM:600054 a owl:Class ; @@ -115497,12 +118465,12 @@ OMIM:600057 a owl:Class ; PMID:6737583, PMID:8071977, PMID:8683791 ; - oboInOwl:hasDbXref UMLS:C1838703, - ORPHA:322, - ORPHA:93930 ; oboInOwl:hasExactSynonym "BEEC", "bladder exstrophy and epispadias complex", "exstrophy of bladder" ; + skos:exactMatch UMLS:C1838703, + ORPHA:322, + ORPHA:93930 ; biolink:category biolink:Disease . OMIM:600058 a owl:Class ; @@ -115515,13 +118483,14 @@ OMIM:600058 a owl:Class ; PMID:7579892, PMID:7951233, PMID:9813138 ; - oboInOwl:hasDbXref UMLS:C1421246 ; oboInOwl:hasExactSynonym "TXK", "protein tyrosine kinase txk", "resting lymphocyte kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7294 ; - skos:exactMatch HGNC_symbol:TXK ; + skos:exactMatch UMLS:C1421246, + HGNC:12434, + HGNC_symbol:TXK ; biolink:category biolink:Gene . OMIM:600060 a owl:Class ; @@ -115534,11 +118503,11 @@ OMIM:600060 a owl:Class ; PMID:7951250, PMID:9171832, PMID:9171833 ; - oboInOwl:hasDbXref UMLS:C1838701 ; oboInOwl:hasExactSynonym "DFNB2", "deafness, autosomal recessive 2", "neurosensory nonsyndromic recessive deafness 2" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1838701 ; biolink:category biolink:Disease . OMIM:600061 a owl:Class ; @@ -115549,14 +118518,15 @@ OMIM:600061 a owl:Class ; PMID:7851894, PMID:8168482, PMID:8808275 ; - oboInOwl:hasDbXref UMLS:C1419236 ; oboInOwl:hasExactSynonym "RAD23A", "hhr23a", "rad23 homolog a, nucleotide excision repair protein", "rad23, yeast, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5886 ; - skos:exactMatch HGNC_symbol:RAD23A ; + skos:exactMatch UMLS:C1419236, + HGNC:9812, + HGNC_symbol:RAD23A ; biolink:category biolink:Gene . OMIM:600062 a owl:Class ; @@ -115571,7 +118541,6 @@ OMIM:600062 a owl:Class ; PMID:8168482, PMID:8808275, PMID:9734359 ; - oboInOwl:hasDbXref UMLS:C1419237 ; oboInOwl:hasExactSynonym "RAD23B", "hhr23b", "hr23b", @@ -115579,7 +118548,9 @@ OMIM:600062 a owl:Class ; "rad23, yeast, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5887 ; - skos:exactMatch HGNC_symbol:RAD23B ; + skos:exactMatch UMLS:C1419237, + HGNC:9813, + HGNC_symbol:RAD23B ; biolink:category biolink:Gene . OMIM:600063 a owl:Class ; @@ -115592,27 +118563,29 @@ OMIM:600063 a owl:Class ; PMID:7829096, PMID:804494, PMID:8188321 ; - oboInOwl:hasDbXref UMLS:C1823506 ; oboInOwl:hasExactSynonym "TROVE2", "autoantigen ro/ssa, 60-kd", "sjogren syndrome antigen a2", "trove domain family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6738 ; - skos:exactMatch HGNC_symbol:RO60 ; + skos:exactMatch UMLS:C1823506, + HGNC:11313, + HGNC_symbol:RO60 ; biolink:category biolink:Gene . OMIM:600064 a owl:Class ; rdfs:label "KRTAP11-1" ; IAO:0000142 PMID:15385554, PMID:7513738 ; - oboInOwl:hasDbXref UMLS:C1425890 ; oboInOwl:hasExactSynonym "KRTAP11-1", "hair follicle-specific gene 1", "keratin-associated protein 11-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:337880 ; - skos:exactMatch HGNC_symbol:KRTAP11-1 ; + skos:exactMatch UMLS:C1425890, + HGNC:18922, + HGNC_symbol:KRTAP11-1 ; biolink:category biolink:Gene . OMIM:600065 a owl:Class ; @@ -115684,20 +118657,20 @@ OMIM:600065 a owl:Class ; PMID:9884339 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:116920 ; - oboInOwl:hasDbXref UMLS:C1334146 ; oboInOwl:hasExactSynonym "ITGB2", "integrin, beta-2", "leukocyte cell adhesion molecule cd18", "leukocyte-associated antigens cd18/11a, cd18/11b, cd18/11c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3689 ; - skos:exactMatch HGNC_symbol:ITGB2 ; + skos:exactMatch UMLS:C1334146, + HGNC:6155, + HGNC_symbol:ITGB2 ; biolink:category biolink:Gene . OMIM:600066 a owl:Class ; rdfs:label "EPHA6" ; IAO:0000142 PMID:7504232 ; - oboInOwl:hasDbXref UMLS:C1539362 ; oboInOwl:hasExactSynonym "EPHA6", "ehk2, rat, homolog of", "eph homology kinase 2, rat, homolog of", @@ -115705,20 +118678,23 @@ OMIM:600066 a owl:Class ; "hek12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285220 ; - skos:exactMatch HGNC_symbol:EPHA6 ; + skos:exactMatch UMLS:C1539362, + HGNC:19296, + HGNC_symbol:EPHA6 ; biolink:category biolink:Gene . OMIM:600070 a owl:Class ; rdfs:label "UGT2B10" ; IAO:0000142 PMID:8333863 ; - oboInOwl:hasDbXref UMLS:C1421336 ; oboInOwl:hasExactSynonym "UGT2B10", "udp glucuronosyltransferase 2 family, member b10", "udp glycosyltransferase 2 family, member b10", "uridine diphosphate glycosyltransferase 2 family, member b10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7365 ; - skos:exactMatch HGNC_symbol:UGT2B10 ; + skos:exactMatch UMLS:C1421336, + HGNC:12544, + HGNC_symbol:UGT2B10 ; biolink:category biolink:Gene . OMIM:600071 a owl:Class ; @@ -115750,10 +118726,10 @@ OMIM:600072 a owl:Class ; PMID:7630420, PMID:8602267, PMID:9669701 ; - oboInOwl:hasDbXref UMLS:C0206042 ; oboInOwl:hasExactSynonym "FFI", "fatal familial insomnia", "insomnia, fatal familial" ; + skos:exactMatch UMLS:C0206042 ; biolink:category biolink:Disease . OMIM:600073 a owl:Class ; @@ -115788,14 +118764,15 @@ OMIM:600073 a owl:Class ; PMID:9475100 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:222448 ; - oboInOwl:hasDbXref UMLS:C1416914 ; oboInOwl:hasExactSynonym "LRP2", "glycoprotein 330", "low density lipoprotein receptor-related protein 2", "megalin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4036 ; - skos:exactMatch HGNC_symbol:LRP2 ; + skos:exactMatch UMLS:C1416914, + HGNC:6694, + HGNC_symbol:LRP2 ; biolink:category biolink:Gene . OMIM:600074 a owl:Class ; @@ -115807,12 +118784,13 @@ OMIM:600074 a owl:Class ; PMID:31367043, PMID:7959762, PMID:9129046 ; - oboInOwl:hasDbXref UMLS:C1413212 ; oboInOwl:hasExactSynonym "CD24", "cd24 antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100133941 ; - skos:exactMatch HGNC_symbol:CD24 ; + skos:exactMatch UMLS:C1413212, + HGNC:1645, + HGNC_symbol:CD24 ; biolink:category biolink:Gene . OMIM:600075 a owl:Class ; @@ -115846,13 +118824,14 @@ OMIM:600075 a owl:Class ; PMID:9399691 ; RO:0002525 CHR:9606chr6q27 ; RO:0003303 OMIM:168600 ; - oboInOwl:hasDbXref UMLS:C1337106 ; oboInOwl:hasExactSynonym "TBP", "sca17 gene", "tata box-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6908 ; - skos:exactMatch HGNC_symbol:TBP ; + skos:exactMatch UMLS:C1337106, + HGNC:11588, + HGNC_symbol:TBP ; biolink:category biolink:Gene . OMIM:600076 a owl:Class ; @@ -115862,13 +118841,14 @@ OMIM:600076 a owl:Class ; PMID:1404377, PMID:8563175, PMID:9087448 ; - oboInOwl:hasDbXref UMLS:C1823460 ; oboInOwl:hasExactSynonym "TNS1", "tensin", "tensin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7145 ; - skos:exactMatch HGNC_symbol:TNS1 ; + skos:exactMatch UMLS:C1823460, + HGNC:11973, + HGNC_symbol:TNS1 ; biolink:category biolink:Gene . OMIM:600077 a owl:Class ; @@ -115891,32 +118871,33 @@ OMIM:600079 a owl:Class ; PMID:9265651 ; RO:0002525 CHR:9606chr7q11.23 ; RO:0003303 OMIM:114500 ; - oboInOwl:hasDbXref UMLS:C1368803 ; oboInOwl:hasExactSynonym "PTPN12", "protein-tyrosine phosphatase g1", "protein-tyrosine phosphatase, nonreceptor-type, 12", "ptp-pest" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5782 ; - skos:exactMatch HGNC_symbol:PTPN12 ; + skos:exactMatch UMLS:C1368803, + HGNC:9645, + HGNC_symbol:PTPN12 ; biolink:category biolink:Gene . OMIM:600080 a owl:Class ; rdfs:label "myelocytic leukemia-like syndrome, familial, chronic" ; IAO:0000142 PMID:5237795, PMID:8086739 ; - oboInOwl:hasDbXref UMLS:C1838670 ; oboInOwl:hasExactSynonym "cml-like syndrome, familial", - "myelocytic leukemia-like syndrome, familial, chronic" . + "myelocytic leukemia-like syndrome, familial, chronic" ; + skos:exactMatch UMLS:C1838670 . OMIM:600082 a owl:Class ; rdfs:label "prostatic hyperplasia, benign" ; IAO:0000142 PMID:16985902, PMID:17222644, PMID:7515446 ; - oboInOwl:hasDbXref UMLS:C1704272 ; oboInOwl:hasExactSynonym "BPH", "prostatic hyperplasia, benign" ; + skos:exactMatch UMLS:C1704272 ; biolink:category biolink:Disease . OMIM:600083 a owl:Class ; @@ -115927,8 +118908,8 @@ OMIM:600084 a owl:Class ; rdfs:label "macrocytosis, familial" ; IAO:0000142 PMID:4098816, PMID:8192162 ; - oboInOwl:hasDbXref UMLS:C1838656 ; - oboInOwl:hasExactSynonym "macrocytosis, familial" . + oboInOwl:hasExactSynonym "macrocytosis, familial" ; + skos:exactMatch UMLS:C1838656 . OMIM:600085 a owl:Class ; rdfs:label "SYK" ; @@ -115950,13 +118931,14 @@ OMIM:600085 a owl:Class ; PMID:8168854 ; RO:0002525 CHR:9606chr9q22.2 ; RO:0003303 OMIM:619381 ; - oboInOwl:hasDbXref UMLS:C1335892 ; oboInOwl:hasExactSynonym "SYK", "protein-tyrosine kinase syk", "spleen tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6850 ; - skos:exactMatch HGNC_symbol:SYK ; + skos:exactMatch UMLS:C1335892, + HGNC:11491, + HGNC_symbol:SYK ; biolink:category biolink:Gene . OMIM:600086 a owl:Class ; @@ -115965,13 +118947,14 @@ OMIM:600086 a owl:Class ; PMID:7876191, PMID:8195208, PMID:8824810 ; - oboInOwl:hasDbXref UMLS:C1412242 ; oboInOwl:hasExactSynonym "ADH7", "adh, class 4", "alcohol dehydrogenase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131 ; - skos:exactMatch HGNC_symbol:ADH7 ; + skos:exactMatch UMLS:C1412242, + HGNC:256, + HGNC_symbol:ADH7 ; biolink:category biolink:Gene . OMIM:600087 a owl:Class ; @@ -115981,12 +118964,13 @@ OMIM:600087 a owl:Class ; PMID:2672884, PMID:7919663, PMID:9839784 ; - oboInOwl:hasDbXref UMLS:C1421240 ; oboInOwl:hasExactSynonym "TUFT1", "tuftelin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7286 ; - skos:exactMatch HGNC_symbol:TUFT1 ; + skos:exactMatch UMLS:C1421240, + HGNC:12422, + HGNC_symbol:TUFT1 ; biolink:category biolink:Gene . OMIM:600088 a owl:Class ; @@ -116004,8 +118988,8 @@ OMIM:600091 a owl:Class ; OMIM:600093 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia tarda with characteristic facies" ; IAO:0000142 PMID:8298734 ; - oboInOwl:hasDbXref UMLS:C1838653 ; - oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia tarda with characteristic facies" . + oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia tarda with characteristic facies" ; + skos:exactMatch UMLS:C1838653 . OMIM:600094 a owl:Class ; IAO:0100001 OMIM:300095 ; @@ -116019,8 +119003,8 @@ OMIM:600096 a owl:Class ; rdfs:label "puerto rican infant hypotonia syndrome" ; IAO:0000142 PMID:4332712, PMID:8064821 ; - oboInOwl:hasDbXref UMLS:C2931142 ; - oboInOwl:hasExactSynonym "puerto rican infant hypotonia syndrome" . + oboInOwl:hasExactSynonym "puerto rican infant hypotonia syndrome" ; + skos:exactMatch UMLS:C2931142 . OMIM:600097 a owl:Class ; IAO:0100001 OMIM:300106 ; @@ -116035,16 +119019,17 @@ OMIM:600098 a owl:Class ; PMID:31324740, PMID:8052619 ; RO:0002525 CHR:9606chr11p15.2 ; - oboInOwl:hasDbXref UMLS:C1335647, - UMLS:C1969537, - UMLS:C5231432 ; oboInOwl:hasExactSynonym "RRAS2", "oncogene rras2", "related ras viral oncogene homolog 2", "teratocarcinoma oncogene tc21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22800 ; - skos:exactMatch HGNC_symbol:RRAS2 ; + skos:exactMatch UMLS:C1335647, + UMLS:C1969537, + UMLS:C5231432, + HGNC:17271, + HGNC_symbol:RRAS2 ; biolink:category biolink:Gene . OMIM:600099 a owl:Class ; @@ -116070,12 +119055,13 @@ OMIM:600103 a owl:Class ; PMID:8058779, PMID:8163462, PMID:8747928 ; - oboInOwl:hasDbXref UMLS:C1420559 ; oboInOwl:hasExactSynonym "SYT4", "synaptotagmin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6860 ; - skos:exactMatch HGNC_symbol:SYT4 ; + skos:exactMatch UMLS:C1420559, + HGNC:11512, + HGNC_symbol:SYT4 ; biolink:category biolink:Gene . OMIM:600104 a owl:Class ; @@ -116093,24 +119079,26 @@ OMIM:600104 a owl:Class ; PMID:8747928 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:619461 ; - oboInOwl:hasDbXref UMLS:C1420557 ; oboInOwl:hasExactSynonym "SYT2", "synaptotagmin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127833 ; - skos:exactMatch HGNC_symbol:SYT2 ; + skos:exactMatch UMLS:C1420557, + HGNC:11510, + HGNC_symbol:SYT2 ; biolink:category biolink:Gene . OMIM:600106 a owl:Class ; rdfs:label "INPP5A" ; IAO:0000142 PMID:8006039, PMID:8808294 ; - oboInOwl:hasDbXref UMLS:C1416444 ; oboInOwl:hasExactSynonym "INPP5A", "inositol polyphosphate-5-phosphatase, 40-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3632 ; - skos:exactMatch HGNC_symbol:INPP5A ; + skos:exactMatch UMLS:C1416444, + HGNC:6076, + HGNC_symbol:INPP5A ; biolink:category biolink:Gene . OMIM:600107 a owl:Class ; @@ -116134,16 +119122,17 @@ OMIM:600108 a owl:Class ; PMID:9119388 ; RO:0002525 CHR:9606chr11q22.2 ; RO:0003303 OMIM:250400 ; - oboInOwl:hasDbXref UMLS:C0432225, - UMLS:C1417202, - UMLS:C1865832, - UMLS:C4016643 ; oboInOwl:hasExactSynonym "MMP13", "collagenase 3", "matrix metalloproteinase 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4322 ; - skos:exactMatch HGNC_symbol:MMP13 ; + skos:exactMatch UMLS:C0432225, + UMLS:C1417202, + UMLS:C1865832, + UMLS:C4016643, + HGNC:7159, + HGNC_symbol:MMP13 ; biolink:category biolink:Gene . OMIM:600109 a owl:Class ; @@ -116169,7 +119158,6 @@ OMIM:600111 a owl:Class ; PMID:9753165 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:612656 ; - oboInOwl:hasDbXref UMLS:C1420121 ; oboInOwl:hasExactSynonym "SLC1A3", "excitatory amino acid transporter 1", "glast", @@ -116178,7 +119166,9 @@ OMIM:600111 a owl:Class ; "solute carrier family 1 (glial high affinity glutamate transporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6507 ; - skos:exactMatch HGNC_symbol:SLC1A3 ; + skos:exactMatch UMLS:C1420121, + HGNC:10941, + HGNC_symbol:SLC1A3 ; biolink:category biolink:Gene . OMIM:600112 a owl:Class ; @@ -116211,7 +119201,6 @@ OMIM:600112 a owl:Class ; PMID:9531547 ; RO:0002525 CHR:9606chr14q32.31 ; RO:0003303 OMIM:158600 ; - oboInOwl:hasDbXref UMLS:C1825005 ; oboInOwl:hasExactSynonym "DYNC1H1", "dnch1", "dnchc1", @@ -116220,7 +119209,9 @@ OMIM:600112 a owl:Class ; "dynein, cytoplasmic-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1778 ; - skos:exactMatch HGNC_symbol:DYNC1H1 ; + skos:exactMatch UMLS:C1825005, + HGNC:2961, + HGNC_symbol:DYNC1H1 ; biolink:category biolink:Gene . OMIM:600114 a owl:Class ; @@ -116231,7 +119222,6 @@ OMIM:600114 a owl:Class ; PMID:8110840, PMID:8573069, PMID:8808286 ; - oboInOwl:hasDbXref UMLS:C1413195 ; oboInOwl:hasExactSynonym "CCT3", "cct-gamma", "chaperonin containing t-complex polypeptide 1, subunit 3", @@ -116239,7 +119229,9 @@ OMIM:600114 a owl:Class ; "tcp1 ring complex, polypeptide 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7203 ; - skos:exactMatch HGNC_symbol:CCT3 ; + skos:exactMatch UMLS:C1413195, + HGNC:1616, + HGNC_symbol:CCT3 ; biolink:category biolink:Gene . OMIM:600115 a owl:Class ; @@ -116251,8 +119243,8 @@ OMIM:600117 a owl:Class ; IAO:0000142 PMID:2330028, PMID:2332125, PMID:4050301 ; - oboInOwl:hasDbXref UMLS:C1838630 ; - oboInOwl:hasExactSynonym "dysphasia, familial developmental" . + oboInOwl:hasExactSynonym "dysphasia, familial developmental" ; + skos:exactMatch UMLS:C1838630 . OMIM:600119 a owl:Class ; rdfs:label "SGCA" ; @@ -116275,7 +119267,6 @@ OMIM:600119 a owl:Class ; PMID:9585331 ; RO:0002525 CHR:9606chr17q21.33 ; RO:0003303 OMIM:608099 ; - oboInOwl:hasDbXref UMLS:C1420005 ; oboInOwl:hasExactSynonym "50-dag", "SGCA", "adhalin", @@ -116284,7 +119275,9 @@ OMIM:600119 a owl:Class ; "sarcoglycan, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6442 ; - skos:exactMatch HGNC_symbol:SGCA ; + skos:exactMatch UMLS:C1420005, + HGNC:10805, + HGNC_symbol:SGCA ; biolink:category biolink:Gene . OMIM:600120 a owl:Class ; @@ -116295,16 +119288,16 @@ OMIM:600122 a owl:Class ; rdfs:label "male pseudohermaphroditism/mental retardation syndrome, verloes iia" ; IAO:0000142 PMID:2098045, PMID:8031539 ; - oboInOwl:hasDbXref UMLS:C1838611 ; oboInOwl:hasExactSynonym "male pseudohermaphroditism/mental retardation syndrome, verloes iia", - "verloes syndrome" . + "verloes syndrome" ; + skos:exactMatch UMLS:C1838611 . OMIM:600123 a owl:Class ; rdfs:label "atrioventricular septal defect with blepharophimosis and anal and radial defects" ; IAO:0000142 PMID:8031543 ; - oboInOwl:hasDbXref UMLS:C1838606, - ORPHA:1352 ; - oboInOwl:hasExactSynonym "atrioventricular septal defect with blepharophimosis and anal and radial defects" . + oboInOwl:hasExactSynonym "atrioventricular septal defect with blepharophimosis and anal and radial defects" ; + skos:exactMatch UMLS:C1838606, + ORPHA:1352 . OMIM:600125 a owl:Class ; IAO:0100001 OMIM:126065 ; @@ -116323,14 +119316,15 @@ OMIM:600126 a owl:Class ; PMID:8940140, PMID:9520403, PMID:9677330 ; - oboInOwl:hasDbXref UMLS:C1418420 ; oboInOwl:hasExactSynonym "PDE4A", "dunce-like phosphodiesterase e2, formerly", "phosphodiesterase 4a", "phosphodiesterase 4a, camp-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5141 ; - skos:exactMatch HGNC_symbol:PDE4A ; + skos:exactMatch UMLS:C1418420, + HGNC:8780, + HGNC_symbol:PDE4A ; biolink:category biolink:Gene . OMIM:600127 a owl:Class ; @@ -116343,14 +119337,15 @@ OMIM:600127 a owl:Class ; PMID:8392015, PMID:8413254, PMID:9371714 ; - oboInOwl:hasDbXref UMLS:C1418421 ; oboInOwl:hasExactSynonym "PDE4B", "dunce-like phosphodiesterase e4, formerly", "phosphodiesterase 4b", "phosphodiesterase 4b, camp-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5142 ; - skos:exactMatch HGNC_symbol:PDE4B ; + skos:exactMatch UMLS:C1418421, + HGNC:8781, + HGNC_symbol:PDE4B ; biolink:category biolink:Gene . OMIM:600128 a owl:Class ; @@ -116358,14 +119353,15 @@ OMIM:600128 a owl:Class ; IAO:0000142 PMID:10574328, PMID:8009369, PMID:8413254 ; - oboInOwl:hasDbXref UMLS:C1418422 ; oboInOwl:hasExactSynonym "PDE4C", "dunce-like phosphodiesterase e1, formerly", "phosphodiesterase 4c", "phosphodiesterase 4c, camp-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5143 ; - skos:exactMatch HGNC_symbol:PDE4C ; + skos:exactMatch UMLS:C1418422, + HGNC:8782, + HGNC_symbol:PDE4C ; biolink:category biolink:Gene . OMIM:600129 a owl:Class ; @@ -116395,17 +119391,18 @@ OMIM:600129 a owl:Class ; PMID:9371713 ; RO:0002525 CHR:9606chr5q11.2-q12.1 ; RO:0003303 OMIM:614613 ; - oboInOwl:hasDbXref UMLS:C1418423, - UMLS:C4016646, - UMLS:C4016647, - UMLS:C4016648 ; oboInOwl:hasExactSynonym "PDE4D", "dunce-like phosphodiesterase e3, formerly", "phosphodiesterase 4d", "phosphodiesterase 4d, camp-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5144 ; - skos:exactMatch HGNC_symbol:PDE4D ; + skos:exactMatch UMLS:C1418423, + UMLS:C4016646, + UMLS:C4016647, + UMLS:C4016648, + HGNC:8783, + HGNC_symbol:PDE4D ; biolink:category biolink:Gene . OMIM:600130 a owl:Class ; @@ -116426,13 +119423,14 @@ OMIM:600130 a owl:Class ; PMID:8692961, PMID:8999814, PMID:9186903 ; - oboInOwl:hasDbXref UMLS:C1412472 ; oboInOwl:hasExactSynonym "APOBEC1", "apolipoprotein B mrna-editing enzyme, catalytic polypeptide 1", "bedp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339 ; - skos:exactMatch HGNC_symbol:APOBEC1 ; + skos:exactMatch UMLS:C1412472, + HGNC:604, + HGNC_symbol:APOBEC1 ; biolink:category biolink:Gene . OMIM:600133 a owl:Class ; @@ -116447,13 +119445,14 @@ OMIM:600133 a owl:Class ; PMID:9310354 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:615235 ; - oboInOwl:hasDbXref UMLS:C1416778 ; oboInOwl:hasExactSynonym "LAMA4", "lama3, formerly", "laminin, alpha-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3910 ; - skos:exactMatch HGNC_symbol:LAMA4 ; + skos:exactMatch UMLS:C1416778, + HGNC:6484, + HGNC_symbol:LAMA4 ; biolink:category biolink:Gene . OMIM:600134 a owl:Class ; @@ -116463,26 +119462,28 @@ OMIM:600134 a owl:Class ; OMIM:600135 a owl:Class ; rdfs:label "CTXN1" ; IAO:0000142 PMID:7959786 ; - oboInOwl:hasDbXref UMLS:C1429080 ; oboInOwl:hasExactSynonym "CTXN1", "cortexin 1", "ctxn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:404217 ; - skos:exactMatch HGNC_symbol:CTXN1 ; + skos:exactMatch UMLS:C1429080, + HGNC:31108, + HGNC_symbol:CTXN1 ; biolink:category biolink:Gene . OMIM:600136 a owl:Class ; rdfs:label "MAP3K9" ; IAO:0000142 PMID:22197930, PMID:8477742 ; - oboInOwl:hasDbXref UMLS:C1417016 ; oboInOwl:hasExactSynonym "MAP3K9", "mitogen-activated protein kinase kinase kinase 9", "mixed-lineage kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4293 ; - skos:exactMatch HGNC_symbol:MAP3K9 ; + skos:exactMatch UMLS:C1417016, + HGNC:6861, + HGNC_symbol:MAP3K9 ; biolink:category biolink:Gene . OMIM:600139 a owl:Class ; @@ -116553,15 +119554,16 @@ OMIM:600140 a owl:Class ; PMID:9758602 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:180849 ; - oboInOwl:hasDbXref UMLS:C1337090, - UMLS:C1838593 ; oboInOwl:hasExactSynonym "CREBBP", "cbp", "cbp/moz fusion gene", "creb-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1387 ; - skos:exactMatch HGNC_symbol:CREBBP ; + skos:exactMatch UMLS:C1337090, + UMLS:C1838593, + HGNC:2348, + HGNC_symbol:CREBBP ; biolink:category biolink:Gene . OMIM:600141 a owl:Class ; @@ -116572,7 +119574,6 @@ OMIM:600141 a owl:Class ; PMID:7913555, PMID:7914093, PMID:8280473 ; - oboInOwl:hasDbXref UMLS:C1415790 ; oboInOwl:hasExactSynonym "HSPE1", "chaperonin 10 homolog", "cpn10 homolog", @@ -116581,7 +119582,9 @@ OMIM:600141 a owl:Class ; "hsp10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3336 ; - skos:exactMatch HGNC_symbol:HSPE1 ; + skos:exactMatch UMLS:C1415790, + HGNC:5269, + HGNC_symbol:HSPE1 ; biolink:category biolink:Gene . OMIM:600142 a owl:Class ; @@ -116596,14 +119599,14 @@ OMIM:600142 a owl:Class ; PMID:7796840, PMID:8042224, PMID:971885 ; - oboInOwl:hasDbXref UMLS:C1838577, - ORPHA:199354 ; oboInOwl:hasExactSynonym "CARASIL", "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy", "cerebrovascular disease with thin skin, alopecia, and disc disease", "maeda syndrome", "subcortical vascular encephalopathy, progressive" ; rdfs:subClassOf OMIMPS:125310 ; + skos:exactMatch UMLS:C1838577, + ORPHA:199354 ; biolink:category biolink:Disease . OMIM:600143 a owl:Class ; @@ -116619,13 +119622,13 @@ OMIM:600143 a owl:Class ; PMID:22220808, PMID:24953404, PMID:7683855 ; - oboInOwl:hasDbXref UMLS:C1838570, - ORPHA:168491, - ORPHA:228354, - ORPHA:79264 ; oboInOwl:hasExactSynonym "CLN8", "ceroid lipofuscinosis, neuronal, 8" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C1838570, + ORPHA:168491, + ORPHA:228354, + ORPHA:79264 ; biolink:category biolink:Disease . OMIM:600144 a owl:Class ; @@ -116637,12 +119640,13 @@ OMIM:600144 a owl:Class ; PMID:8081734 ; RO:0002525 CHR:9606chr12p11.23 ; RO:0003303 OMIM:106190 ; - oboInOwl:hasDbXref UMLS:C1416518 ; oboInOwl:hasExactSynonym "ITPR2", "inositol 1,4,5-triphosphate receptor, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3709 ; - skos:exactMatch HGNC_symbol:ITPR2 ; + skos:exactMatch UMLS:C1416518, + HGNC:6181, + HGNC_symbol:ITPR2 ; biolink:category biolink:Gene . OMIM:600146 a owl:Class ; @@ -116663,27 +119667,29 @@ OMIM:600147 a owl:Class ; PMID:9032023 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:214300 ; - oboInOwl:hasDbXref UMLS:C1417111 ; oboInOwl:hasExactSynonym "MEOX1", "mesenchyme homeobox 1", "mox1 diverged homeobox gene", "mox1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4222 ; - skos:exactMatch HGNC_symbol:MEOX1 ; + skos:exactMatch UMLS:C1417111, + HGNC:7013, + HGNC_symbol:MEOX1 ; biolink:category biolink:Gene . OMIM:600148 a owl:Class ; rdfs:label "GK2" ; IAO:0000142 PMID:7987308 ; - oboInOwl:hasDbXref UMLS:C3887940 ; oboInOwl:hasExactSynonym "GK2", "glycerol kinase 2", "glycerol kinase pseudogene 2", "glycerol kinase, testicular, iia a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2712 ; - skos:exactMatch HGNC_symbol:GK2 ; + skos:exactMatch UMLS:C3887940, + HGNC:4291, + HGNC_symbol:GK2 ; biolink:category biolink:Gene . OMIM:600150 a owl:Class ; @@ -116718,12 +119724,6 @@ OMIM:600150 a owl:Class ; PMID:9880252 ; RO:0002525 CHR:9606chr10q22.3 ; RO:0003303 OMIM:618596 ; - oboInOwl:hasDbXref UMLS:C1416602, - UMLS:C1836173, - UMLS:C4539985, - UMLS:C4540548, - UMLS:C5231421, - UMLS:C5231479 ; oboInOwl:hasExactSynonym "KCNMA1", "potassium channel, calcium-activated, large conductance, subfamily m, alpha member 1", "slo-alpha", @@ -116731,7 +119731,14 @@ OMIM:600150 a owl:Class ; "slowpoke, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3778 ; - skos:exactMatch HGNC_symbol:KCNMA1 ; + skos:exactMatch UMLS:C1416602, + UMLS:C1836173, + UMLS:C4539985, + UMLS:C4540548, + UMLS:C5231421, + UMLS:C5231479, + HGNC:6284, + HGNC_symbol:KCNMA1 ; biolink:category biolink:Gene . OMIM:600151 a owl:Class ; @@ -116744,11 +119751,11 @@ OMIM:600151 a owl:Class ; PMID:8298649, PMID:8588586, PMID:9714014 ; - oboInOwl:hasDbXref UMLS:C1859564, - ORPHA:110 ; oboInOwl:hasExactSynonym "BBS3", "bardet-biedl syndrome 3" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C1859564, + ORPHA:110 ; biolink:category biolink:Disease . OMIM:600152 a owl:Class ; @@ -116760,7 +119767,6 @@ OMIM:600152 a owl:Class ; PMID:17363900, PMID:23723238, PMID:7987303 ; - oboInOwl:hasDbXref UMLS:C1822665 ; oboInOwl:hasExactSynonym "SEC13", "d3s1231e", "sec13 homolog, nuclear pore and copii coat complex component", @@ -116769,7 +119775,9 @@ OMIM:600152 a owl:Class ; "sec13-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6396 ; - skos:exactMatch HGNC_symbol:SEC13 ; + skos:exactMatch UMLS:C1822665, + HGNC:10697, + HGNC_symbol:SEC13 ; biolink:category biolink:Gene . OMIM:600153 a owl:Class ; @@ -116783,12 +119791,13 @@ OMIM:600153 a owl:Class ; PMID:8786134 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:619356 ; - oboInOwl:hasDbXref UMLS:C1418563 ; oboInOwl:hasExactSynonym "PIGF", "phosphatidylinositol glycan anchor biosynthesis class f protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5281 ; - skos:exactMatch HGNC_symbol:PIGF ; + skos:exactMatch UMLS:C1418563, + HGNC:8962, + HGNC_symbol:PIGF ; biolink:category biolink:Gene . OMIM:600154 a owl:Class ; @@ -116801,12 +119810,13 @@ OMIM:600154 a owl:Class ; PMID:9463366 ; RO:0002525 CHR:9606chr14q24.1 ; RO:0003303 OMIM:618010 ; - oboInOwl:hasDbXref UMLS:C1418565 ; oboInOwl:hasExactSynonym "PIGH", "phosphatidylinositol glycan anchor biosynthesis class h protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5283 ; - skos:exactMatch HGNC_symbol:PIGH ; + skos:exactMatch UMLS:C1418565, + HGNC:8964, + HGNC_symbol:PIGH ; biolink:category biolink:Gene . OMIM:600157 a owl:Class ; @@ -116820,8 +119830,6 @@ OMIM:600157 a owl:Class ; PMID:8812422 ; RO:0002525 CHR:9606chr22q12.2 ; RO:0003303 OMIM:242150 ; - oboInOwl:hasDbXref UMLS:C1275089, - UMLS:C1412434 ; oboInOwl:hasExactSynonym "AP1B1", "adaptin, beta-1", "adaptin, beta-prime", @@ -116829,7 +119837,10 @@ OMIM:600157 a owl:Class ; "beta-adaptin-meningioma gene on chromosome 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162 ; - skos:exactMatch HGNC_symbol:AP1B1 ; + skos:exactMatch UMLS:C1275089, + UMLS:C1412434, + HGNC:554, + HGNC_symbol:AP1B1 ; biolink:category biolink:Gene . OMIM:600158 a owl:Class ; @@ -116841,8 +119852,8 @@ OMIM:600159 a owl:Class ; IAO:0000142 PMID:4075567, PMID:7205502, PMID:7977463 ; - oboInOwl:hasDbXref UMLS:C1838562 ; - oboInOwl:hasExactSynonym "pterygium colli and mental retardation with facial and digital anomalies" . + oboInOwl:hasExactSynonym "pterygium colli and mental retardation with facial and digital anomalies" ; + skos:exactMatch UMLS:C1838562 . OMIM:600160 a owl:Class ; rdfs:label "CDKN2A" ; @@ -116989,7 +120000,6 @@ OMIM:600160 a owl:Class ; PMID:9916806 ; RO:0002525 CHR:9606chr9p21.3 ; RO:0003303 OMIM:606719 ; - oboInOwl:hasDbXref UMLS:C0525037 ; oboInOwl:hasExactSynonym "CDKN2A", "cdk4 inhibitor", "cdkn2", @@ -117003,34 +120013,38 @@ OMIM:600160 a owl:Class ; "tp16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1029 ; - skos:exactMatch HGNC_symbol:CDKN2A ; + skos:exactMatch UMLS:C0525037, + HGNC:1787, + HGNC_symbol:CDKN2A ; biolink:category biolink:Gene . OMIM:600161 a owl:Class ; rdfs:label "PWAR1" ; IAO:0000142 PMID:11159938, PMID:7987392 ; - oboInOwl:hasDbXref UMLS:C1838543 ; oboInOwl:hasExactSynonym "PWAR1", "d15s227e", "par1", "prader-willi/angelman region RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145624 ; - skos:exactMatch HGNC_symbol:PWAR1 ; + skos:exactMatch UMLS:C1838543, + HGNC:30089, + HGNC_symbol:PWAR1 ; biolink:category biolink:Gene . OMIM:600162 a owl:Class ; rdfs:label "PWAR5" ; IAO:0000142 PMID:7987392 ; - oboInOwl:hasDbXref UMLS:C1838542 ; oboInOwl:hasExactSynonym "PWAR5", "d15s226e", "par5", "prader-willi/angelman region RNA 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8123 ; - skos:exactMatch HGNC_symbol:PWAR5 ; + skos:exactMatch UMLS:C1838542, + HGNC:30090, + HGNC_symbol:PWAR5 ; biolink:category biolink:Gene . OMIM:600163 a owl:Class ; @@ -117107,7 +120121,13 @@ OMIM:600163 a owl:Class ; PMID:9521325 ; RO:0002525 CHR:9606chr3p22.2 ; RO:0003303 OMIM:272120 ; - oboInOwl:hasDbXref UMLS:C0038644, + oboInOwl:hasExactSynonym "SCN5A", + "nav1.5", + "sodium channel, voltage-gated, iia v, alpha subunit", + "sodium voltage-gated channel, alpha subunit 5" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:6331 ; + skos:exactMatch UMLS:C0038644, UMLS:C0428908, UMLS:C1419864, UMLS:C1832680, @@ -117123,14 +120143,9 @@ OMIM:600163 a owl:Class ; UMLS:C3276240, UMLS:C3276241, UMLS:C4016652, - UMLS:C4551804 ; - oboInOwl:hasExactSynonym "SCN5A", - "nav1.5", - "sodium channel, voltage-gated, iia v, alpha subunit", - "sodium voltage-gated channel, alpha subunit 5" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:6331 ; - skos:exactMatch HGNC_symbol:SCN5A ; + UMLS:C4551804, + HGNC:10593, + HGNC_symbol:SCN5A ; biolink:category biolink:Gene . OMIM:600164 a owl:Class ; @@ -117139,20 +120154,21 @@ OMIM:600164 a owl:Class ; PMID:11483511, PMID:7912851, PMID:8825643 ; - oboInOwl:hasDbXref UMLS:C1415041 ; oboInOwl:hasExactSynonym "GEM", "gtp-binding mitogen-induced t-cell protein", "kinase-inducible ras-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2669 ; - skos:exactMatch HGNC_symbol:GEM ; + skos:exactMatch UMLS:C1415041, + HGNC:4234, + HGNC_symbol:GEM ; biolink:category biolink:Gene . OMIM:600166 a owl:Class ; rdfs:label "hyperparathyroidism, primary, caused by water clear cell hyperplasia" ; IAO:0000142 PMID:7324490 ; - oboInOwl:hasDbXref UMLS:C1838501 ; - oboInOwl:hasExactSynonym "hyperparathyroidism, primary, caused by water clear cell hyperplasia" . + oboInOwl:hasExactSynonym "hyperparathyroidism, primary, caused by water clear cell hyperplasia" ; + skos:exactMatch UMLS:C1838501 . OMIM:600167 a owl:Class ; rdfs:label "HRH1" ; @@ -117166,14 +120182,15 @@ OMIM:600167 a owl:Class ; PMID:21697825, PMID:8045566, PMID:8812432 ; - oboInOwl:hasDbXref UMLS:C1439351 ; oboInOwl:hasExactSynonym "HRH1", "bphs, mouse, homolog of", "h1r", "histamine receptor h1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3269 ; - skos:exactMatch HGNC_symbol:HRH1 ; + skos:exactMatch UMLS:C1439351, + HGNC:5182, + HGNC_symbol:HRH1 ; biolink:category biolink:Gene . OMIM:600168 a owl:Class ; @@ -117190,7 +120207,6 @@ OMIM:600168 a owl:Class ; PMID:9045873 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:617075 ; - oboInOwl:hasDbXref UMLS:C1364082 ; oboInOwl:hasExactSynonym "MST1R", "macrophage stimulating 1 receptor", "macrophage stimulating protein receptor", @@ -117198,7 +120214,9 @@ OMIM:600168 a owl:Class ; "ron protein tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4486 ; - skos:exactMatch HGNC_symbol:MST1R ; + skos:exactMatch UMLS:C1364082, + HGNC:7381, + HGNC_symbol:MST1R ; biolink:category biolink:Gene . OMIM:600169 a owl:Class ; @@ -117225,12 +120243,13 @@ OMIM:600169 a owl:Class ; PMID:8824804, PMID:9037047, PMID:9497295 ; - oboInOwl:hasDbXref UMLS:C1417162 ; oboInOwl:hasExactSynonym "MICA", "major histocompatibility complex class 1 chain-related gene a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507436 ; - skos:exactMatch HGNC_symbol:MICA ; + skos:exactMatch UMLS:C1417162, + HGNC:7090, + HGNC_symbol:MICA ; biolink:category biolink:Gene . OMIM:600170 a owl:Class ; @@ -117250,20 +120269,21 @@ OMIM:600170 a owl:Class ; PMID:8641135 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:607457 ; - oboInOwl:hasDbXref UMLS:C1412493 ; oboInOwl:hasExactSynonym "AQP3", "aquaporin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:360 ; - skos:exactMatch HGNC_symbol:AQP3 ; + skos:exactMatch UMLS:C1412493, + HGNC:636, + HGNC_symbol:AQP3 ; biolink:category biolink:Gene . OMIM:600171 a owl:Class ; rdfs:label "gonadal agenesis" ; IAO:0000142 PMID:6409674, PMID:7977459 ; - oboInOwl:hasDbXref UMLS:C0949331 ; - oboInOwl:hasExactSynonym "gonadal agenesis" . + oboInOwl:hasExactSynonym "gonadal agenesis" ; + skos:exactMatch UMLS:C0949331 . OMIM:600172 a owl:Class ; rdfs:label "MTF1" ; @@ -117272,12 +120292,13 @@ OMIM:600172 a owl:Class ; PMID:8065932, PMID:8467794, PMID:9582278 ; - oboInOwl:hasDbXref UMLS:C1417419 ; oboInOwl:hasExactSynonym "MTF1", "metal-regulatory transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4520 ; - skos:exactMatch HGNC_symbol:MTF1 ; + skos:exactMatch UMLS:C1417419, + HGNC:7428, + HGNC_symbol:MTF1 ; biolink:category biolink:Gene . OMIM:600173 a owl:Class ; @@ -117303,14 +120324,15 @@ OMIM:600173 a owl:Class ; PMID:9354668 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:600802 ; - oboInOwl:hasDbXref UMLS:C1334292 ; oboInOwl:hasExactSynonym "JAK3", "janus kinase 3", "janus kinase, leukocyte", "ljak" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3718 ; - skos:exactMatch HGNC_symbol:JAK3 ; + skos:exactMatch UMLS:C1334292, + HGNC:6193, + HGNC_symbol:JAK3 ; biolink:category biolink:Gene . OMIM:600174 a owl:Class ; @@ -117324,13 +120346,14 @@ OMIM:600174 a owl:Class ; PMID:8255295, PMID:8354691, PMID:9182797 ; - oboInOwl:hasDbXref UMLS:C1538651 ; oboInOwl:hasExactSynonym "PITPNA", "phosphatidylinositol transfer protein, alpha", "pitpn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5306 ; - skos:exactMatch HGNC_symbol:PITPNA ; + skos:exactMatch UMLS:C1538651, + HGNC:9001, + HGNC_symbol:PITPNA ; biolink:category biolink:Gene . OMIM:600175 a owl:Class ; @@ -117342,12 +120365,12 @@ OMIM:600175 a owl:Class ; PMID:24789864, PMID:4056805, PMID:9781046 ; - oboInOwl:hasDbXref UMLS:C1838492 ; oboInOwl:hasExactSynonym "HMN8", "neuronopathy, distal hereditary motor, iia 8", "neuropathy, distal hereditary motor, iia 8", "spinal muscular atrophy, congenital benign, with contractures", "spinal muscular atrophy, distal, congenital nonprogressive" ; + skos:exactMatch UMLS:C1838492 ; biolink:category biolink:Disease . OMIM:600176 a owl:Class ; @@ -117357,9 +120380,9 @@ OMIM:600176 a owl:Class ; PMID:19876906, PMID:8094839, PMID:8129645 ; - oboInOwl:hasDbXref UMLS:C1838491 ; oboInOwl:hasExactSynonym "pachygyria with mental retardation and seizures", "pachygyria with mental retardation, seizures, and arachnoid cysts" ; + skos:exactMatch UMLS:C1838491 ; biolink:category biolink:Disease . OMIM:600177 a owl:Class ; @@ -117373,13 +120396,14 @@ OMIM:600178 a owl:Class ; PMID:1712602, PMID:7806212, PMID:8812494 ; - oboInOwl:hasDbXref UMLS:C1417003 ; oboInOwl:hasExactSynonym "MAP1A", "microtubule-associated protein 1a", "mtap1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4130 ; - skos:exactMatch HGNC_symbol:MAP1A ; + skos:exactMatch UMLS:C1417003, + HGNC:6835, + HGNC_symbol:MAP1A ; biolink:category biolink:Gene . OMIM:600179 a owl:Class ; @@ -117415,7 +120439,6 @@ OMIM:600179 a owl:Class ; PMID:9888789 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:618555 ; - oboInOwl:hasDbXref UMLS:C1415364 ; oboInOwl:hasExactSynonym "GUCY2D", "guanylate cyclase 2d, membrane", "guanylate cyclase 2d, retinal", @@ -117426,7 +120449,9 @@ OMIM:600179 a owl:Class ; "rod outer segment membrane guanylate cyclase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3000 ; - skos:exactMatch HGNC_symbol:GUCY2D ; + skos:exactMatch UMLS:C1415364, + HGNC:4689, + HGNC_symbol:GUCY2D ; biolink:category biolink:Gene . OMIM:600180 a owl:Class ; @@ -117451,7 +120476,6 @@ OMIM:600181 a owl:Class ; PMID:7683678, PMID:7829063, PMID:9339356 ; - oboInOwl:hasDbXref UMLS:C1416806 ; oboInOwl:hasExactSynonym "LCN2", "lipocalin 2", "neutrophil gelatinase-associated lipocalin", @@ -117459,7 +120483,9 @@ OMIM:600181 a owl:Class ; "uterocalin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3934 ; - skos:exactMatch HGNC_symbol:LCN2 ; + skos:exactMatch UMLS:C1416806, + HGNC:6526, + HGNC_symbol:LCN2 ; biolink:category biolink:Gene . OMIM:600183 a owl:Class ; @@ -117469,14 +120495,15 @@ OMIM:600183 a owl:Class ; PMID:19228121, PMID:7829067, PMID:7874108 ; - oboInOwl:hasDbXref UMLS:C1333258 ; oboInOwl:hasExactSynonym "DUSP3", "dual-specificity phosphatase 3", "vaccinia virus phosphatase vh1-related", "vh1-related phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1845 ; - skos:exactMatch HGNC_symbol:DUSP3 ; + skos:exactMatch UMLS:C1333258, + HGNC:3069, + HGNC_symbol:DUSP3 ; biolink:category biolink:Gene . OMIM:600184 a owl:Class ; @@ -117488,13 +120515,14 @@ OMIM:600184 a owl:Class ; PMID:7829107 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:617917 ; - oboInOwl:hasDbXref UMLS:C1413700 ; oboInOwl:hasExactSynonym "CRAT", "carnitine acetyltransferase", "cat1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1384 ; - skos:exactMatch HGNC_symbol:CRAT ; + skos:exactMatch UMLS:C1413700, + HGNC:2342, + HGNC_symbol:CRAT ; biolink:category biolink:Gene . OMIM:600185 a owl:Class ; @@ -117601,7 +120629,13 @@ OMIM:600185 a owl:Class ; PMID:9774970 ; RO:0002525 CHR:9606chr13q13.1 ; RO:0003303 OMIM:176807 ; - oboInOwl:hasDbXref UMLS:C0025149, + oboInOwl:hasExactSynonym "BRCA2", + "brca2 DNA repair-associated protein", + "brca2 gene", + "fancd1 gene" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:675 ; + skos:exactMatch UMLS:C0025149, UMLS:C0027708, UMLS:C0376358, UMLS:C0598034, @@ -117609,14 +120643,9 @@ OMIM:600185 a owl:Class ; UMLS:C2675520, UMLS:C2751641, UMLS:C3150546, - UMLS:C4015968 ; - oboInOwl:hasExactSynonym "BRCA2", - "brca2 DNA repair-associated protein", - "brca2 gene", - "fancd1 gene" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:675 ; - skos:exactMatch HGNC_symbol:BRCA2 ; + UMLS:C4015968, + HGNC:1101, + HGNC_symbol:BRCA2 ; biolink:category biolink:Gene . OMIM:600187 a owl:Class ; @@ -117632,13 +120661,14 @@ OMIM:600187 a owl:Class ; PMID:7759117 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:619376 ; - oboInOwl:hasDbXref UMLS:C1414360 ; oboInOwl:hasExactSynonym "EIF5A", "eif5a1", "eukaryotic translation initiation factor 5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1984 ; - skos:exactMatch HGNC_symbol:EIF5A ; + skos:exactMatch UMLS:C1414360, + HGNC:3300, + HGNC_symbol:EIF5A ; biolink:category biolink:Gene . OMIM:600188 a owl:Class ; @@ -117646,14 +120676,15 @@ OMIM:600188 a owl:Class ; IAO:0000142 PMID:3142687, PMID:8365415, PMID:9809752 ; - oboInOwl:hasDbXref UMLS:C1412268 ; oboInOwl:hasExactSynonym "TLE5", "amino-terminal enhancer of split", "groucho-related gene 5", "tle family member 5, transcriptional modulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166 ; - skos:exactMatch HGNC_symbol:TLE5 ; + skos:exactMatch UMLS:C1412268, + HGNC:307, + HGNC_symbol:TLE5 ; biolink:category biolink:Gene . OMIM:600189 a owl:Class ; @@ -117667,8 +120698,6 @@ OMIM:600189 a owl:Class ; PMID:8365415, PMID:8808280, PMID:9837750 ; - oboInOwl:hasDbXref UMLS:C1420752, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "TLE1", "enhancer of split groucho 1", "groucho-related gene 1", @@ -117676,7 +120705,10 @@ OMIM:600189 a owl:Class ; "transducin-like enhancer of split 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7088 ; - skos:exactMatch HGNC_symbol:TLE1 ; + skos:exactMatch UMLS:C1420752, + UMLS:C2986382, + HGNC:11837, + HGNC_symbol:TLE1 ; biolink:category biolink:Gene . OMIM:600190 a owl:Class ; @@ -117685,14 +120717,15 @@ OMIM:600190 a owl:Class ; PMID:7851890, PMID:8365415, PMID:8808280 ; - oboInOwl:hasDbXref UMLS:C1420754 ; oboInOwl:hasExactSynonym "TLE3", "enhancer of split groucho 3", "tle family member 3, transcriptional corepressor", "transducin-like enhancer of split 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7090 ; - skos:exactMatch HGNC_symbol:TLE3 ; + skos:exactMatch UMLS:C1420754, + HGNC:11839, + HGNC_symbol:TLE3 ; biolink:category biolink:Gene . OMIM:600191 a owl:Class ; @@ -117713,9 +120746,6 @@ OMIM:600192 a owl:Class ; PMID:9378559, PMID:9428816 ; RO:0002525 CHR:9606chr18q11.2 ; - oboInOwl:hasDbXref UMLS:C1420439, - UMLS:C1839329, - UMLS:C1846243 ; oboInOwl:hasExactSynonym "SS18", "synovial sarcoma translocation, chromosome 18", "synovial sarcoma, translocated to 10 chromosome", @@ -117724,7 +120754,11 @@ OMIM:600192 a owl:Class ; "syt/ssx2 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6760 ; - skos:exactMatch HGNC_symbol:SS18 ; + skos:exactMatch UMLS:C1420439, + UMLS:C1839329, + UMLS:C1846243, + HGNC:11340, + HGNC_symbol:SS18 ; biolink:category biolink:Gene . OMIM:600194 a owl:Class ; @@ -117741,7 +120775,6 @@ OMIM:600194 a owl:Class ; PMID:9804344 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:146800 ; - oboInOwl:hasDbXref UMLS:C1825741 ; oboInOwl:hasExactSynonym "KRT2", "k2", "kb2", @@ -117750,7 +120783,9 @@ OMIM:600194 a owl:Class ; "keratin 2e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3849 ; - skos:exactMatch HGNC_symbol:KRT2 ; + skos:exactMatch UMLS:C1825741, + HGNC:6439, + HGNC_symbol:KRT2 ; biolink:category biolink:Gene . OMIM:600196 a owl:Class ; @@ -117765,7 +120800,6 @@ OMIM:600197 a owl:Class ; PMID:9150357, PMID:9679061, PMID:9763667 ; - oboInOwl:hasDbXref UMLS:C1416968 ; oboInOwl:hasExactSynonym "MAFK", "maf bzip transcription factor k", "nfe2, 18-kd subunit", @@ -117774,7 +120808,9 @@ OMIM:600197 a owl:Class ; "v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7975 ; - skos:exactMatch HGNC_symbol:MAFK ; + skos:exactMatch UMLS:C1416968, + HGNC:6782, + HGNC_symbol:MAFK ; biolink:category biolink:Gene . OMIM:600198 a owl:Class ; @@ -117810,14 +120846,15 @@ OMIM:600201 a owl:Class ; PMID:9677380 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:611742 ; - oboInOwl:hasDbXref UMLS:C1412581 ; oboInOwl:hasExactSynonym "ASIP", "agouti signaling protein", "agouti, mouse, homolog of", "asp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:434 ; - skos:exactMatch HGNC_symbol:ASIP ; + skos:exactMatch UMLS:C1412581, + HGNC:745, + HGNC_symbol:ASIP ; biolink:category biolink:Gene . OMIM:600202 a owl:Class ; @@ -117847,10 +120884,10 @@ OMIM:600202 a owl:Class ; PMID:9915953, PMID:9915954 ; RO:0002525 CHR:9606chr6p22-p21 ; - oboInOwl:hasDbXref UMLS:C1838436 ; oboInOwl:hasExactSynonym "DYX2", "dyslexia, susceptibility to, 2", "reading disability, specific, 2" ; + skos:exactMatch UMLS:C1838436 ; biolink:category biolink:Disease . OMIM:600203 a owl:Class ; @@ -117877,23 +120914,25 @@ OMIM:600206 a owl:Class ; PMID:8404850 ; RO:0002525 CHR:9606chr12p12.3 ; RO:0003303 OMIM:615974 ; - oboInOwl:hasDbXref UMLS:C1333350 ; oboInOwl:hasExactSynonym "EPS8", "epidermal growth factor receptor pathway substrate 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2059 ; - skos:exactMatch HGNC_symbol:EPS8 ; + skos:exactMatch UMLS:C1333350, + HGNC:3420, + HGNC_symbol:EPS8 ; biolink:category biolink:Gene . OMIM:600207 a owl:Class ; rdfs:label "HPCAL1" ; IAO:0000142 PMID:8038222 ; - oboInOwl:hasDbXref UMLS:C1415694 ; oboInOwl:hasExactSynonym "HPCAL1", "hippocalcin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3241 ; - skos:exactMatch HGNC_symbol:HPCAL1 ; + skos:exactMatch UMLS:C1415694, + HGNC:5145, + HGNC_symbol:HPCAL1 ; biolink:category biolink:Gene . OMIM:600208 a owl:Class ; @@ -117920,7 +120959,6 @@ OMIM:600210 a owl:Class ; PMID:7622058, PMID:7790005, PMID:7835892 ; - oboInOwl:hasDbXref UMLS:C1419772 ; oboInOwl:hasExactSynonym "RUNX3", "aml2 gene", "core-binding factor, runt domain, alpha subunit 3", @@ -117928,7 +120966,9 @@ OMIM:600210 a owl:Class ; "runt-related transcription factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:864 ; - skos:exactMatch HGNC_symbol:RUNX3 ; + skos:exactMatch UMLS:C1419772, + HGNC:10473, + HGNC_symbol:RUNX3 ; biolink:category biolink:Gene . OMIM:600211 a owl:Class ; @@ -117987,7 +121027,6 @@ OMIM:600211 a owl:Class ; PMID:9434946 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:156510 ; - oboInOwl:hasDbXref UMLS:C1419771 ; oboInOwl:hasExactSynonym "RUNX2", "aml3 gene", "core-binding factor, runt domain, alpha subunit 1", @@ -117996,7 +121035,9 @@ OMIM:600211 a owl:Class ; "runt-related transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:860 ; - skos:exactMatch HGNC_symbol:RUNX2 ; + skos:exactMatch UMLS:C1419771, + HGNC:10472, + HGNC_symbol:RUNX2 ; biolink:category biolink:Gene . OMIM:600212 a owl:Class ; @@ -118015,12 +121056,13 @@ OMIM:600212 a owl:Class ; PMID:7567999, PMID:7835891, PMID:9890958 ; - oboInOwl:hasDbXref UMLS:C1367441 ; oboInOwl:hasExactSynonym "FASN", "fatty acid synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2194 ; - skos:exactMatch HGNC_symbol:FASN ; + skos:exactMatch UMLS:C1367441, + HGNC:3594, + HGNC_symbol:FASN ; biolink:category biolink:Gene . OMIM:600213 a owl:Class ; @@ -118037,13 +121079,14 @@ OMIM:600214 a owl:Class ; PMID:16606672, PMID:7835890, PMID:8751438 ; - oboInOwl:hasDbXref UMLS:C1412278 ; oboInOwl:hasExactSynonym "AGER", "advanced glycosylation end product-specific receptor", "receptor for advanced glycation end products" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:177 ; - skos:exactMatch HGNC_symbol:AGER ; + skos:exactMatch UMLS:C1412278, + HGNC:320, + HGNC_symbol:AGER ; biolink:category biolink:Gene . OMIM:600215 a owl:Class ; @@ -118052,12 +121095,13 @@ OMIM:600215 a owl:Class ; PMID:15616564, PMID:7835894, PMID:9150721 ; - oboInOwl:hasDbXref UMLS:C1417126 ; oboInOwl:hasExactSynonym "MFAP1", "microfibrillar-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4236 ; - skos:exactMatch HGNC_symbol:MFAP1 ; + skos:exactMatch UMLS:C1417126, + HGNC:7032, + HGNC_symbol:MFAP1 ; biolink:category biolink:Gene . OMIM:600216 a owl:Class ; @@ -118090,15 +121134,16 @@ OMIM:600220 a owl:Class ; PMID:8980110 ; RO:0002525 CHR:9606chr16q23.3 ; RO:0003303 OMIM:614468 ; - oboInOwl:hasDbXref UMLS:C1335226, - UMLS:C3280914, - UMLS:C3553961 ; oboInOwl:hasExactSynonym "PLCG2", "phospholipase c, gamma-2", "phospholipase c, phosphatidylinositol-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5336 ; - skos:exactMatch HGNC_symbol:PLCG2 ; + skos:exactMatch UMLS:C1335226, + UMLS:C3280914, + UMLS:C3553961, + HGNC:9066, + HGNC_symbol:PLCG2 ; biolink:category biolink:Gene . OMIM:600221 a owl:Class ; @@ -118122,13 +121167,14 @@ OMIM:600221 a owl:Class ; PMID:8980225 ; RO:0002525 CHR:9606chr9p21.2 ; RO:0003303 OMIM:600195 ; - oboInOwl:hasDbXref UMLS:C1336602 ; oboInOwl:hasExactSynonym "TEK", "protein receptor tyrosine kinase, epithelial-specific, tie-2", "tek tyrosine kinase, endothelial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7010 ; - skos:exactMatch HGNC_symbol:TEK ; + skos:exactMatch UMLS:C1336602, + HGNC:11724, + HGNC_symbol:TEK ; biolink:category biolink:Gene . OMIM:600222 a owl:Class ; @@ -118139,14 +121185,15 @@ OMIM:600222 a owl:Class ; PMID:7835909 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:619401 ; - oboInOwl:hasDbXref UMLS:C1539965 ; oboInOwl:hasExactSynonym "TIE1", "protein receptor tyrosine kinase tie 1", "tie", "tyrosine kinase with immunoglobulin and egf factor homology domains 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7075 ; - skos:exactMatch HGNC_symbol:TIE1 ; + skos:exactMatch UMLS:C1539965, + HGNC:11809, + HGNC_symbol:TIE1 ; biolink:category biolink:Gene . OMIM:600223 a owl:Class ; @@ -118155,11 +121202,11 @@ OMIM:600223 a owl:Class ; PMID:21267591, PMID:8755926 ; RO:0002525 CHR:9606chr16q22.1 ; - oboInOwl:hasDbXref UMLS:C0752122 ; oboInOwl:hasExactSynonym "SCA4", "spinocerebellar ataxia 4", "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C0752122 ; biolink:category biolink:Disease . OMIM:600224 a owl:Class ; @@ -118174,10 +121221,10 @@ OMIM:600224 a owl:Class ; PMID:22914369, PMID:25981959, PMID:7874171 ; - oboInOwl:hasDbXref UMLS:C0752123 ; oboInOwl:hasExactSynonym "SCA5", "spinocerebellar ataxia 5" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C0752123 ; biolink:category biolink:Disease . OMIM:600225 a owl:Class ; @@ -118217,12 +121264,13 @@ OMIM:600225 a owl:Class ; PMID:9667588 ; RO:0002525 CHR:9606chr14q22.2 ; RO:0003303 OMIM:233910 ; - oboInOwl:hasDbXref UMLS:C1415012 ; oboInOwl:hasExactSynonym "GCH1", "gtp cyclohydrolase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2643 ; - skos:exactMatch HGNC_symbol:GCH1 ; + skos:exactMatch UMLS:C1415012, + HGNC:4193, + HGNC_symbol:GCH1 ; biolink:category biolink:Gene . OMIM:600226 a owl:Class ; @@ -118238,13 +121286,14 @@ OMIM:600227 a owl:Class ; PMID:8706131 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:619141 ; - oboInOwl:hasDbXref UMLS:C1413178 ; oboInOwl:hasExactSynonym "CCNF", "cyclin f", "f-box only protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:899 ; - skos:exactMatch HGNC_symbol:CCNF ; + skos:exactMatch UMLS:C1413178, + HGNC:1591, + HGNC_symbol:CCNF ; biolink:category biolink:Gene . OMIM:600228 a owl:Class ; @@ -118277,10 +121326,6 @@ OMIM:600228 a owl:Class ; PMID:9654209 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:264350 ; - oboInOwl:hasDbXref UMLS:C1419868, - UMLS:C1449843, - UMLS:C2751666, - UMLS:C4748292 ; oboInOwl:hasExactSynonym "SCNN1A", "scnn1", "sodium channel, epithelial 1, alpha subunit", @@ -118288,7 +121333,12 @@ OMIM:600228 a owl:Class ; "sodium channel, nonvoltage-gated 1, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6337 ; - skos:exactMatch HGNC_symbol:SCNN1A ; + skos:exactMatch UMLS:C1419868, + UMLS:C1449843, + UMLS:C2751666, + UMLS:C4748292, + HGNC:10599, + HGNC_symbol:SCNN1A ; biolink:category biolink:Gene . OMIM:600229 a owl:Class ; @@ -118304,14 +121354,15 @@ OMIM:600229 a owl:Class ; PMID:8910405 ; RO:0002525 CHR:9606chr2p14 ; RO:0003303 OMIM:616657 ; - oboInOwl:hasDbXref UMLS:C1420122, - UMLS:C4225254 ; oboInOwl:hasExactSynonym "SLC1A4", "neutral amino acid transporter", "solute carrier family 1 (glutamate/neutral amino acid transporter), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6509 ; - skos:exactMatch HGNC_symbol:SLC1A4 ; + skos:exactMatch UMLS:C1420122, + UMLS:C4225254, + HGNC:10942, + HGNC_symbol:SLC1A4 ; biolink:category biolink:Gene . OMIM:600230 a owl:Class ; @@ -118332,13 +121383,14 @@ OMIM:600230 a owl:Class ; PMID:9883896 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:618961 ; - oboInOwl:hasDbXref UMLS:C1335225, - UMLS:C5394555 ; oboInOwl:hasExactSynonym "PLCB3", "phospholipase c, beta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5331 ; - skos:exactMatch HGNC_symbol:PLCB3 ; + skos:exactMatch UMLS:C1335225, + UMLS:C5394555, + HGNC:9056, + HGNC_symbol:PLCB3 ; biolink:category biolink:Gene . OMIM:600232 a owl:Class ; @@ -118351,13 +121403,14 @@ OMIM:600232 a owl:Class ; PMID:7851879 ; RO:0002525 CHR:9606chr5q34 ; RO:0003303 OMIM:617829 ; - oboInOwl:hasDbXref UMLS:C1414915 ; oboInOwl:hasExactSynonym "GABRB2", "gaba-a receptor, beta-2 polypeptide", "gamma-aminobutyric acid receptor, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2561 ; - skos:exactMatch HGNC_symbol:GABRB2 ; + skos:exactMatch UMLS:C1414915, + HGNC:4082, + HGNC_symbol:GABRB2 ; biolink:category biolink:Gene . OMIM:600233 a owl:Class ; @@ -118366,13 +121419,14 @@ OMIM:600233 a owl:Class ; PMID:17339270, PMID:7601451, PMID:7851879 ; - oboInOwl:hasDbXref UMLS:C1414921 ; oboInOwl:hasExactSynonym "GABRG3", "gaba-a receptor, gamma-3 polypeptide", "gamma-aminobutyric acid receptor, gamma-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2567 ; - skos:exactMatch HGNC_symbol:GABRG3 ; + skos:exactMatch UMLS:C1414921, + HGNC:4088, + HGNC_symbol:GABRG3 ; biolink:category biolink:Gene . OMIM:600234 a owl:Class ; @@ -118387,7 +121441,6 @@ OMIM:600234 a owl:Class ; PMID:9727719 ; RO:0002525 CHR:9606chr1p12 ; RO:0003303 OMIM:605911 ; - oboInOwl:hasDbXref UMLS:C1415617 ; oboInOwl:hasExactSynonym "3-hydroxy-3-methylglutaryl-coa synthase 2", "3-hydroxy-3-methylglutaryl-coa synthase, mitochondrial", "HMGCS2", @@ -118395,7 +121448,9 @@ OMIM:600234 a owl:Class ; "mitochondrial hmg-coa synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3158 ; - skos:exactMatch HGNC_symbol:HMGCS2 ; + skos:exactMatch UMLS:C1415617, + HGNC:5008, + HGNC_symbol:HMGCS2 ; biolink:category biolink:Gene . OMIM:600235 a owl:Class ; @@ -118419,18 +121474,19 @@ OMIM:600235 a owl:Class ; PMID:9894880 ; RO:0002525 CHR:9606chr19q13.11 ; RO:0003303 OMIM:604233 ; - oboInOwl:hasDbXref UMLS:C1419857, - UMLS:C1858672, - UMLS:C2748541, - UMLS:C2748542, - UMLS:C3809311, - UMLS:C4479236 ; oboInOwl:hasExactSynonym "SCN1B", "sodium channel, voltage-gated, iia i, beta subunit", "sodium voltage-gated channel, beta subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6324 ; - skos:exactMatch HGNC_symbol:SCN1B ; + skos:exactMatch UMLS:C1419857, + UMLS:C1858672, + UMLS:C2748541, + UMLS:C2748542, + UMLS:C3809311, + UMLS:C4479236, + HGNC:10586, + HGNC_symbol:SCN1B ; biolink:category biolink:Gene . OMIM:600236 a owl:Class ; @@ -118446,13 +121502,14 @@ OMIM:600236 a owl:Class ; PMID:9858811 ; RO:0002525 CHR:9606chr1q41 ; RO:0003303 OMIM:243605 ; - oboInOwl:hasDbXref UMLS:C1332752 ; oboInOwl:hasExactSynonym "CENPF", "centromeric protein f", "mitosin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1063 ; - skos:exactMatch HGNC_symbol:CENPF ; + skos:exactMatch UMLS:C1332752, + HGNC:1857, + HGNC_symbol:CENPF ; biolink:category biolink:Gene . OMIM:600237 a owl:Class ; @@ -118468,7 +121525,6 @@ OMIM:600237 a owl:Class ; PMID:9063745, PMID:9710638, PMID:9731536 ; - oboInOwl:hasDbXref UMLS:C1415549 ; oboInOwl:hasExactSynonym "HIRA", "digeorge syndrome critical region gene 1", "hir, s. cerevisiae, homolog of, a", @@ -118477,7 +121533,9 @@ OMIM:600237 a owl:Class ; "tup-like enhancer of split 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7290 ; - skos:exactMatch HGNC_symbol:HIRA ; + skos:exactMatch UMLS:C1415549, + HGNC:4916, + HGNC_symbol:HIRA ; biolink:category biolink:Gene . OMIM:600238 a owl:Class ; @@ -118490,13 +121548,14 @@ OMIM:600238 a owl:Class ; PMID:8099584 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:617251 ; - oboInOwl:hasDbXref UMLS:C1420715 ; oboInOwl:hasExactSynonym "TGM3", "transglutaminase 3", "transglutaminase e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7053 ; - skos:exactMatch HGNC_symbol:TGM3 ; + skos:exactMatch UMLS:C1420715, + HGNC:11779, + HGNC_symbol:TGM3 ; biolink:category biolink:Gene . OMIM:600239 a owl:Class ; @@ -118504,12 +121563,13 @@ OMIM:600239 a owl:Class ; IAO:0000142 PMID:12679517, PMID:7851889, PMID:8675557 ; - oboInOwl:hasDbXref UMLS:C1415206 ; oboInOwl:hasExactSynonym "GPR1", "g protein-coupled receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2825 ; - skos:exactMatch HGNC_symbol:CMKLR2 ; + skos:exactMatch UMLS:C1415206, + HGNC:4463, + HGNC_symbol:CMKLR2 ; biolink:category biolink:Gene . OMIM:600240 a owl:Class ; @@ -118521,13 +121581,14 @@ OMIM:600240 a owl:Class ; PMID:11821900, PMID:7851889, PMID:8574748 ; - oboInOwl:hasDbXref UMLS:C1333692 ; oboInOwl:hasExactSynonym "CCR10", "chemokine (c-c) receptor 10", "g protein-coupled receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2826 ; - skos:exactMatch HGNC_symbol:CCR10 ; + skos:exactMatch UMLS:C1333692, + HGNC:4474, + HGNC_symbol:CCR10 ; biolink:category biolink:Gene . OMIM:600241 a owl:Class ; @@ -118539,13 +121600,14 @@ OMIM:600241 a owl:Class ; PMID:7698767, PMID:7851889, PMID:8530049 ; - oboInOwl:hasDbXref UMLS:C1415222 ; oboInOwl:hasExactSynonym "GPR3", "adenylate cyclase constitutive activator", "g protein-coupled receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2827 ; - skos:exactMatch HGNC_symbol:GPR3 ; + skos:exactMatch UMLS:C1415222, + HGNC:4484, + HGNC_symbol:GPR3 ; biolink:category biolink:Gene . OMIM:600242 a owl:Class ; @@ -118564,14 +121626,15 @@ OMIM:600242 a owl:Class ; PMID:7851893, PMID:8383238, PMID:9153236 ; - oboInOwl:hasDbXref UMLS:C1413191 ; oboInOwl:hasExactSynonym "CCR7", "chemokine, cc motif, receptor 7", "cmkbr7", "epstein-barr virus-induced gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1236 ; - skos:exactMatch HGNC_symbol:CCR7 ; + skos:exactMatch UMLS:C1413191, + HGNC:1608, + HGNC_symbol:CCR7 ; biolink:category biolink:Gene . OMIM:600243 a owl:Class ; @@ -118582,12 +121645,13 @@ OMIM:600243 a owl:Class ; PMID:9144178, PMID:9167970, PMID:9748289 ; - oboInOwl:hasDbXref UMLS:C1413900 ; oboInOwl:hasExactSynonym "DAD1", "defender against cell death 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1603 ; - skos:exactMatch HGNC_symbol:DAD1 ; + skos:exactMatch UMLS:C1413900, + HGNC:2664, + HGNC_symbol:DAD1 ; biolink:category biolink:Gene . OMIM:600244 a owl:Class ; @@ -118620,14 +121684,15 @@ OMIM:600244 a owl:Class ; PMID:9332365 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:605218 ; - oboInOwl:hasDbXref UMLS:C1418401 ; oboInOwl:hasExactSynonym "PDCD1", "cd279 antigen", "pd1", "programmed cell death 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5133 ; - skos:exactMatch HGNC_symbol:PDCD1 ; + skos:exactMatch UMLS:C1418401, + HGNC:8760, + HGNC_symbol:PDCD1 ; biolink:category biolink:Gene . OMIM:600245 a owl:Class ; @@ -118636,12 +121701,13 @@ OMIM:600245 a owl:Class ; PMID:12089156, PMID:15741214, PMID:7851907 ; - oboInOwl:hasDbXref UMLS:C1414648 ; oboInOwl:hasExactSynonym "FMOD", "fibromodulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2331 ; - skos:exactMatch HGNC_symbol:FMOD ; + skos:exactMatch UMLS:C1414648, + HGNC:3774, + HGNC_symbol:FMOD ; biolink:category biolink:Gene . OMIM:600246 a owl:Class ; @@ -118651,13 +121717,14 @@ OMIM:600246 a owl:Class ; PMID:7851904, PMID:8575773, PMID:9734357 ; - oboInOwl:hasDbXref UMLS:C1414381 ; oboInOwl:hasExactSynonym "ELK4", "elk4, ets-domain protein", "srf accessory protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2005 ; - skos:exactMatch HGNC_symbol:ELK4 ; + skos:exactMatch UMLS:C1414381, + HGNC:3326, + HGNC_symbol:ELK4 ; biolink:category biolink:Gene . OMIM:600248 a owl:Class ; @@ -118668,7 +121735,6 @@ OMIM:600249 a owl:Class ; rdfs:label "ALDH1L1" ; IAO:0000142 PMID:10204077, PMID:7972060 ; - oboInOwl:hasDbXref UMLS:C1538259 ; oboInOwl:hasExactSynonym "10-formyltetrahydrofolate dehydrogenase", "10-formyltetrahydrofolate dehydrogenase, cytosolic", "ALDH1L1", @@ -118676,7 +121742,9 @@ OMIM:600249 a owl:Class ; "cytosolic 10-formyltetrahydrofolate dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10840 ; - skos:exactMatch HGNC_symbol:ALDH1L1 ; + skos:exactMatch UMLS:C1538259, + HGNC:3978, + HGNC_symbol:ALDH1L1 ; biolink:category biolink:Gene . OMIM:600250 a owl:Class ; @@ -118689,7 +121757,6 @@ OMIM:600250 a owl:Class ; PMID:8574748, PMID:8849694, PMID:9632725 ; - oboInOwl:hasDbXref UMLS:C1363878 ; oboInOwl:hasExactSynonym "XCL1", "chemokine, c motif, ligand 1", "lymphotactin", @@ -118698,7 +121765,9 @@ OMIM:600250 a owl:Class ; "small inducible cytokine subfamily c, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6375 ; - skos:exactMatch HGNC_symbol:XCL1 ; + skos:exactMatch UMLS:C1363878, + HGNC:10645, + HGNC_symbol:XCL1 ; biolink:category biolink:Gene . OMIM:600251 a owl:Class ; @@ -118707,10 +121776,10 @@ OMIM:600251 a owl:Class ; PMID:3398011, PMID:7856656, PMID:820824 ; - oboInOwl:hasDbXref UMLS:C1838348 ; oboInOwl:hasExactSynonym "OBLFC1", "facial clefting, oblique, 1", "oculomaxillofacial dysplasia with oblique facial clefts" ; + skos:exactMatch UMLS:C1838348 ; biolink:category biolink:Disease . OMIM:600252 a owl:Class ; @@ -118718,8 +121787,8 @@ OMIM:600252 a owl:Class ; IAO:0000142 PMID:281275, PMID:7856667, PMID:9415481 ; - oboInOwl:hasDbXref UMLS:C0796020 ; - oboInOwl:hasExactSynonym "lowry-maclean syndrome" . + oboInOwl:hasExactSynonym "lowry-maclean syndrome" ; + skos:exactMatch UMLS:C0796020 . OMIM:600253 a owl:Class ; rdfs:label "AHR" ; @@ -118747,13 +121816,14 @@ OMIM:600253 a owl:Class ; PMID:9170146 ; RO:0002525 CHR:9606chr7p21.1 ; RO:0003303 OMIM:618345 ; - oboInOwl:hasDbXref UMLS:C0596123, - UMLS:C5193041 ; oboInOwl:hasExactSynonym "AHR", "aryl hydrocarbon receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196 ; - skos:exactMatch HGNC_symbol:AHR ; + skos:exactMatch UMLS:C0596123, + UMLS:C5193041, + HGNC:348, + HGNC_symbol:AHR ; biolink:category biolink:Gene . OMIM:600254 a owl:Class ; @@ -118772,9 +121842,9 @@ OMIM:600257 a owl:Class ; rdfs:label "chromosome 8q12.1-q21.2 deletion syndrome" ; IAO:0000142 PMID:7849713 ; RO:0002525 CHR:9606chr8q12.2-q21.2 ; - oboInOwl:hasDbXref UMLS:C1838346 ; oboInOwl:hasExactSynonym "bor-duane hydrocephalus contiguous gene syndrome", "chromosome 8q12.1-q21.2 deletion syndrome" ; + skos:exactMatch UMLS:C1838346 ; biolink:category biolink:Disease . OMIM:600258 a owl:Class ; @@ -118784,14 +121854,15 @@ OMIM:600258 a owl:Class ; PMID:7980603, PMID:8072530, PMID:8128251 ; - oboInOwl:hasDbXref UMLS:C0879390 ; oboInOwl:hasExactSynonym "PMS1", "mismatch repair gene pmsl1", "pms1 homolog 1, mismatch repair system component", "postmeiotic segregation increased, s. cerevisiae, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5378 ; - skos:exactMatch HGNC_symbol:PMS1 ; + skos:exactMatch UMLS:C0879390, + HGNC:9121, + HGNC_symbol:PMS1 ; biolink:category biolink:Gene . OMIM:600259 a owl:Class ; @@ -118838,16 +121909,17 @@ OMIM:600259 a owl:Class ; PMID:9488480 ; RO:0002525 CHR:9606chr7p22.1 ; RO:0003303 OMIM:619101 ; - oboInOwl:hasDbXref UMLS:C0879391, - UMLS:C1838333, - UMLS:C5436817 ; oboInOwl:hasExactSynonym "PMS2", "mismatch repair gene pmsl2", "pms1 homolog 2, mismatch repair system component", "postmeiotic segregation increased, s. cerevisiae, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5395 ; - skos:exactMatch HGNC_symbol:PMS2 ; + skos:exactMatch UMLS:C0879391, + UMLS:C1838333, + UMLS:C5436817, + HGNC:9122, + HGNC_symbol:PMS2 ; biolink:category biolink:Gene . OMIM:600260 a owl:Class ; @@ -118881,8 +121953,8 @@ OMIM:600263 a owl:Class ; PMID:8163943, PMID:8185146, PMID:9252185 ; - oboInOwl:hasDbXref UMLS:C1838332 ; oboInOwl:hasExactSynonym "helicobacter pylori infection, susceptibility to" ; + skos:exactMatch UMLS:C1838332 ; biolink:category biolink:Disease . OMIM:600264 a owl:Class ; @@ -118895,7 +121967,6 @@ OMIM:600264 a owl:Class ; PMID:7929452, PMID:8586456, PMID:8636444 ; - oboInOwl:hasDbXref UMLS:C1332123 ; oboInOwl:hasExactSynonym "AVPR1B", "antidiuretic hormone, receptor for, v1b", "arginine vasopressin receptor 1b", @@ -118903,7 +121974,9 @@ OMIM:600264 a owl:Class ; "vasopressin v1b receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:553 ; - skos:exactMatch HGNC_symbol:AVPR1B ; + skos:exactMatch UMLS:C1332123, + HGNC:896, + HGNC_symbol:AVPR1B ; biolink:category biolink:Gene . OMIM:600265 a owl:Class ; @@ -118944,15 +122017,16 @@ OMIM:600266 a owl:Class ; PMID:9486992 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:607948 ; - oboInOwl:hasDbXref UMLS:C1420088, - UMLS:C1864868, - UMLS:C2936833 ; oboInOwl:hasExactSynonym "SLC11A1", "natural resistance-associated macrophage protein 1", "solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6556 ; - skos:exactMatch HGNC_symbol:SLC11A1 ; + skos:exactMatch UMLS:C1420088, + UMLS:C1864868, + UMLS:C2936833, + HGNC:10907, + HGNC_symbol:SLC11A1 ; biolink:category biolink:Gene . OMIM:600267 a owl:Class ; @@ -118965,14 +122039,15 @@ OMIM:600267 a owl:Class ; PMID:8287977, PMID:8824809, PMID:8893825 ; - oboInOwl:hasDbXref UMLS:C1419096 ; oboInOwl:hasExactSynonym "PTPN13", "fas-associated protein-tyrosine phosphatase 1", "protein-tyrosine phosphatase ptpl1", "protein-tyrosine phosphatase, nonreceptor-type, 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5783 ; - skos:exactMatch HGNC_symbol:PTPN13 ; + skos:exactMatch UMLS:C1419096, + HGNC:9646, + HGNC_symbol:PTPN13 ; biolink:category biolink:Gene . OMIM:600268 a owl:Class ; @@ -118991,31 +122066,32 @@ OMIM:600268 a owl:Class ; PMID:7864039, PMID:7864049, PMID:8456858 ; - oboInOwl:hasDbXref UMLS:C1838329, - ORPHA:3339 ; oboInOwl:hasExactSynonym "OES", "aplasia cutis congenita with epibulbar dermoids", "oculoectodermal syndrome" ; + skos:exactMatch UMLS:C1838329, + ORPHA:3339 ; biolink:category biolink:Disease . OMIM:600269 a owl:Class ; rdfs:label "short tarsus with absence of lower eyelashes" ; IAO:0000142 PMID:7889642 ; - oboInOwl:hasDbXref UMLS:C1838328 ; oboInOwl:hasExactSynonym "STALE", - "short tarsus with absence of lower eyelashes" . + "short tarsus with absence of lower eyelashes" ; + skos:exactMatch UMLS:C1838328 . OMIM:600270 a owl:Class ; rdfs:label "PCOLCE" ; IAO:0000142 PMID:7523404, PMID:8824813 ; - oboInOwl:hasDbXref UMLS:C1418383 ; oboInOwl:hasExactSynonym "PCOLCE", "procollagen c-endopeptidase enhancer", "procollagen, iia i, cooh-terminal proteinase enhancer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5118 ; - skos:exactMatch HGNC_symbol:PCOLCE ; + skos:exactMatch UMLS:C1418383, + HGNC:8738, + HGNC_symbol:PCOLCE ; biolink:category biolink:Gene . OMIM:600271 a owl:Class ; @@ -119026,13 +122102,14 @@ OMIM:600271 a owl:Class ; PMID:7929347 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:613102 ; - oboInOwl:hasDbXref UMLS:C1414158 ; oboInOwl:hasExactSynonym "DSC3", "desmocollin 3", "desmocollin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1825 ; - skos:exactMatch HGNC_symbol:DSC3 ; + skos:exactMatch UMLS:C1414158, + HGNC:3037, + HGNC_symbol:DSC3 ; biolink:category biolink:Gene . OMIM:600272 a owl:Class ; @@ -119043,13 +122120,14 @@ OMIM:600272 a owl:Class ; PMID:16713569, PMID:18948503, PMID:7971277 ; - oboInOwl:hasDbXref UMLS:C1413568 ; oboInOwl:hasExactSynonym "COIL", "coilin", "coilin p80" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8161 ; - skos:exactMatch HGNC_symbol:COIL ; + skos:exactMatch UMLS:C1413568, + HGNC:2184, + HGNC_symbol:COIL ; biolink:category biolink:Gene . OMIM:600273 a owl:Class ; @@ -119059,11 +122137,11 @@ OMIM:600273 a owl:Class ; PMID:7420220, PMID:7894481 ; RO:0002525 CHR:9606chr16p13.3 ; - oboInOwl:hasDbXref UMLS:C1838327 ; oboInOwl:hasExactSynonym "PKDTS", "chromosome 16p13.3 deletion syndrome, distal", "polycystic kidney disease, infantile severe, with tuberous sclerosis", "tuberous sclerosis/polycystic kidney disease contiguous gene syndrome" ; + skos:exactMatch UMLS:C1838327 ; biolink:category biolink:Disease . OMIM:600275 a owl:Class ; @@ -119091,13 +122169,14 @@ OMIM:600275 a owl:Class ; PMID:9714016 ; RO:0002525 CHR:9606chr1p12 ; RO:0003303 OMIM:102500 ; - oboInOwl:hasDbXref UMLS:C1417767 ; oboInOwl:hasExactSynonym "NOTCH2", "notch receptor 2", "notch, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4853 ; - skos:exactMatch HGNC_symbol:NOTCH2 ; + skos:exactMatch UMLS:C1417767, + HGNC:7882, + HGNC_symbol:NOTCH2 ; biolink:category biolink:Gene . OMIM:600276 a owl:Class ; @@ -119142,16 +122221,17 @@ OMIM:600276 a owl:Class ; PMID:9570965 ; RO:0002525 CHR:9606chr19p13.12 ; RO:0003303 OMIM:130720 ; - oboInOwl:hasDbXref UMLS:C1417768, - UMLS:C1851710, - UMLS:C3809084, - UMLS:C4551768 ; oboInOwl:hasExactSynonym "NOTCH3", "notch receptor 3", "notch, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4854 ; - skos:exactMatch HGNC_symbol:NOTCH3 ; + skos:exactMatch UMLS:C1417768, + UMLS:C1851710, + UMLS:C3809084, + UMLS:C4551768, + HGNC:7883, + HGNC_symbol:NOTCH3 ; biolink:category biolink:Gene . OMIM:600277 a owl:Class ; @@ -119169,13 +122249,14 @@ OMIM:600277 a owl:Class ; PMID:24123680, PMID:7777541, PMID:7828896 ; - oboInOwl:hasDbXref UMLS:C1415856 ; oboInOwl:hasExactSynonym "ID3", "heir1", "inhibitor of DNA binding 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3399 ; - skos:exactMatch HGNC_symbol:ID3 ; + skos:exactMatch UMLS:C1415856, + HGNC:5362, + HGNC_symbol:ID3 ; biolink:category biolink:Gene . OMIM:600278 a owl:Class ; @@ -119183,13 +122264,14 @@ OMIM:600278 a owl:Class ; IAO:0000142 PMID:15141215, PMID:1904317, PMID:8275700 ; - oboInOwl:hasDbXref UMLS:C1826766 ; oboInOwl:hasExactSynonym "RAP1GAP", "gtpase-activating protein, rap1, 1", "rap1 gtpase-activating protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5909 ; - skos:exactMatch HGNC_symbol:RAP1GAP ; + skos:exactMatch UMLS:C1826766, + HGNC:9858, + HGNC_symbol:RAP1GAP ; biolink:category biolink:Gene . OMIM:600280 a owl:Class ; @@ -119197,14 +122279,15 @@ OMIM:600280 a owl:Class ; IAO:0000142 PMID:10486206, PMID:18573874, PMID:7926816 ; - oboInOwl:hasDbXref UMLS:C1417872 ; oboInOwl:hasExactSynonym "NUBP1", "nbp", "nbp35", "nucleotide-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4682 ; - skos:exactMatch HGNC_symbol:NUBP1 ; + skos:exactMatch UMLS:C1417872, + HGNC:8041, + HGNC_symbol:NUBP1 ; biolink:category biolink:Gene . OMIM:600281 a owl:Class ; @@ -119246,10 +122329,6 @@ OMIM:600281 a owl:Class ; PMID:9920109 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C0011860, - UMLS:C1415629, - UMLS:C1852093, - UMLS:C4014962 ; oboInOwl:hasExactSynonym "HNF4A", "hepatocyte nuclear factor 4", "hepatocyte nuclear factor 4-alpha", @@ -119257,32 +122336,39 @@ OMIM:600281 a owl:Class ; "transcription factor 14, hepatic nuclear factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3172 ; - skos:exactMatch HGNC_symbol:HNF4A ; + skos:exactMatch UMLS:C0011860, + UMLS:C1415629, + UMLS:C1852093, + UMLS:C4014962, + HGNC:5024, + HGNC_symbol:HNF4A ; biolink:category biolink:Gene . OMIM:600282 a owl:Class ; rdfs:label "GRIK4" ; IAO:0000142 PMID:15620360, PMID:7527545 ; - oboInOwl:hasDbXref UMLS:C1415296 ; oboInOwl:hasExactSynonym "GRIK4", "glutamate receptor, ionotropic, kainate 4", "ka1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2900 ; - skos:exactMatch HGNC_symbol:GRIK4 ; + skos:exactMatch UMLS:C1415296, + HGNC:4582, + HGNC_symbol:GRIK4 ; biolink:category biolink:Gene . OMIM:600283 a owl:Class ; rdfs:label "GRIK5" ; IAO:0000142 PMID:7527545 ; - oboInOwl:hasDbXref UMLS:C1415297 ; oboInOwl:hasExactSynonym "GRIK5", "glutamate receptor, ionotropic, kainate 5", "ka2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2901 ; - skos:exactMatch HGNC_symbol:GRIK5 ; + skos:exactMatch UMLS:C1415297, + HGNC:4583, + HGNC_symbol:GRIK5 ; biolink:category biolink:Gene . OMIM:600284 a owl:Class ; @@ -119290,13 +122376,14 @@ OMIM:600284 a owl:Class ; IAO:0000142 PMID:10995463, PMID:7991593, PMID:8596958 ; - oboInOwl:hasDbXref UMLS:C1427925 ; oboInOwl:hasExactSynonym "ELL", "eleven nineteen lysine-rich leukemia gene", "elongation factor RNA polymerase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8178 ; - skos:exactMatch HGNC_symbol:ELL ; + skos:exactMatch UMLS:C1427925, + HGNC:23114, + HGNC_symbol:ELL ; biolink:category biolink:Gene . OMIM:600285 a owl:Class ; @@ -119308,14 +122395,15 @@ OMIM:600285 a owl:Class ; PMID:16777602, PMID:7990965, PMID:9154815 ; - oboInOwl:hasDbXref UMLS:C1414467 ; oboInOwl:hasExactSynonym "ETF1", "erf1", "eukaryotic translation termination factor 1", "release factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2107 ; - skos:exactMatch HGNC_symbol:ETF1 ; + skos:exactMatch UMLS:C1414467, + HGNC:3477, + HGNC_symbol:ETF1 ; biolink:category biolink:Gene . OMIM:600287 a owl:Class ; @@ -119345,16 +122433,17 @@ OMIM:600287 a owl:Class ; PMID:9879677 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:619042 ; - oboInOwl:hasDbXref UMLS:C1414988, - UMLS:C1832274, - UMLS:C5399969, - UMLS:C5436669 ; oboInOwl:hasExactSynonym "GARS1", "gars", "glycyl-trna synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2617 ; - skos:exactMatch HGNC_symbol:GARS1 ; + skos:exactMatch UMLS:C1414988, + UMLS:C1832274, + UMLS:C5399969, + UMLS:C5436669, + HGNC:4162, + HGNC_symbol:GARS1 ; biolink:category biolink:Gene . OMIM:600288 a owl:Class ; @@ -119379,13 +122468,14 @@ OMIM:600288 a owl:Class ; PMID:7873876, PMID:8034310, PMID:9119385 ; - oboInOwl:hasDbXref UMLS:C1415627 ; oboInOwl:hasExactSynonym "FOXA2", "forkhead box a2", "hepatocyte nuclear factor 3-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3170 ; - skos:exactMatch HGNC_symbol:FOXA2 ; + skos:exactMatch UMLS:C1415627, + HGNC:5022, + HGNC_symbol:FOXA2 ; biolink:category biolink:Gene . OMIM:600290 a owl:Class ; @@ -119407,14 +122497,15 @@ OMIM:600291 a owl:Class ; PMID:9920776 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:617885 ; - oboInOwl:hasDbXref UMLS:C1412222 ; oboInOwl:hasExactSynonym "ADCY3", "adenylate cyclase 3", "adenylyl cyclase 3", "kiaa0511" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:109 ; - skos:exactMatch HGNC_symbol:ADCY3 ; + skos:exactMatch UMLS:C1412222, + HGNC:234, + HGNC_symbol:ADCY3 ; biolink:category biolink:Gene . OMIM:600292 a owl:Class ; @@ -119423,13 +122514,14 @@ OMIM:600292 a owl:Class ; PMID:12503609, PMID:7766992, PMID:7959689 ; - oboInOwl:hasDbXref UMLS:C1412223 ; oboInOwl:hasExactSynonym "ADCY4", "adenylate cyclase 4", "adenylyl cyclase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196883 ; - skos:exactMatch HGNC_symbol:ADCY4 ; + skos:exactMatch UMLS:C1412223, + HGNC:235, + HGNC_symbol:ADCY4 ; biolink:category biolink:Gene . OMIM:600293 a owl:Class ; @@ -119444,13 +122536,14 @@ OMIM:600293 a owl:Class ; PMID:8034296 ; RO:0002525 CHR:9606chr3q21.1 ; RO:0003303 OMIM:619651 ; - oboInOwl:hasDbXref UMLS:C1412224 ; oboInOwl:hasExactSynonym "ADCY5", "adenylate cyclase 5", "adenylyl cyclase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:111 ; - skos:exactMatch HGNC_symbol:ADCY5 ; + skos:exactMatch UMLS:C1412224, + HGNC:236, + HGNC_symbol:ADCY5 ; biolink:category biolink:Gene . OMIM:600294 a owl:Class ; @@ -119464,13 +122557,14 @@ OMIM:600294 a owl:Class ; PMID:8034296 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:616287 ; - oboInOwl:hasDbXref UMLS:C1412225 ; oboInOwl:hasExactSynonym "ADCY6", "adenylate cyclase 6", "adenylyl cyclase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112 ; - skos:exactMatch HGNC_symbol:ADCY6 ; + skos:exactMatch UMLS:C1412225, + HGNC:237, + HGNC_symbol:ADCY6 ; biolink:category biolink:Gene . OMIM:600295 a owl:Class ; @@ -119488,14 +122582,15 @@ OMIM:600295 a owl:Class ; PMID:7698765, PMID:8097440, PMID:9482886 ; - oboInOwl:hasDbXref UMLS:C1417808 ; oboInOwl:hasExactSynonym "NPPB", "bnp", "natriuretic peptide precursor B", "natriuretic peptide, brain iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4879 ; - skos:exactMatch HGNC_symbol:NPPB ; + skos:exactMatch UMLS:C1417808, + HGNC:7940, + HGNC_symbol:NPPB ; biolink:category biolink:Gene . OMIM:600296 a owl:Class ; @@ -119511,13 +122606,14 @@ OMIM:600296 a owl:Class ; PMID:7698765, PMID:9482886, PMID:9565590 ; - oboInOwl:hasDbXref UMLS:C1417809 ; oboInOwl:hasExactSynonym "NPPC", "natriuretic peptide precursor c", "natriuretic peptide, iia c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4880 ; - skos:exactMatch HGNC_symbol:NPPC ; + skos:exactMatch UMLS:C1417809, + HGNC:7941, + HGNC_symbol:NPPC ; biolink:category biolink:Gene . OMIM:600297 a owl:Class ; @@ -119534,14 +122630,15 @@ OMIM:600297 a owl:Class ; PMID:7698771, PMID:9052785, PMID:9459001 ; - oboInOwl:hasDbXref UMLS:C1332743 ; oboInOwl:hasExactSynonym "CDX2", "caudal-type homeobox transcription factor 2", "caudal-type homeobox transcription factor 3", "insulin-regulating transcription factor cdx3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1045 ; - skos:exactMatch HGNC_symbol:CDX2 ; + skos:exactMatch UMLS:C1332743, + HGNC:1806, + HGNC_symbol:CDX2 ; biolink:category biolink:Gene . OMIM:600298 a owl:Class ; @@ -119558,9 +122655,6 @@ OMIM:600298 a owl:Class ; PMID:8136842 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:601412 ; - oboInOwl:hasDbXref UMLS:C1416889, - UMLS:C1832379, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "LMX1A", "insulin-regulating transcription factor lmx1", "lim homeobox transcription factor 1", @@ -119568,7 +122662,11 @@ OMIM:600298 a owl:Class ; "lmx1.1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4009 ; - skos:exactMatch HGNC_symbol:LMX1A ; + skos:exactMatch UMLS:C1416889, + UMLS:C1832379, + UMLS:C2986382, + HGNC:6653, + HGNC_symbol:LMX1A ; biolink:category biolink:Gene . OMIM:600299 a owl:Class ; @@ -119581,13 +122679,14 @@ OMIM:600299 a owl:Class ; PMID:22767577, PMID:7698772, PMID:8120099 ; - oboInOwl:hasDbXref UMLS:C1418374 ; oboInOwl:hasExactSynonym "PCM1", "pcm1/ret fusion gene", "pericentriolar material 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5108 ; - skos:exactMatch HGNC_symbol:PCM1 ; + skos:exactMatch UMLS:C1418374, + HGNC:8727, + HGNC_symbol:PCM1 ; biolink:category biolink:Gene . OMIM:600300 a owl:Class ; @@ -119623,8 +122722,6 @@ OMIM:600300 a owl:Class ; PMID:9771796 ; RO:0002525 CHR:9606chr11p13 ; RO:0003303 OMIM:617105 ; - oboInOwl:hasDbXref UMLS:C1420120, - UMLS:C4310717 ; oboInOwl:hasExactSynonym "SLC1A2", "eaat2b", "excitatory amino acid transporter 2", @@ -119634,7 +122731,10 @@ OMIM:600300 a owl:Class ; "solute carrier family 1 (glial high affinity glutamate transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6506 ; - skos:exactMatch HGNC_symbol:SLC1A2 ; + skos:exactMatch UMLS:C1420120, + UMLS:C4310717, + HGNC:10940, + HGNC_symbol:SLC1A2 ; biolink:category biolink:Gene . OMIM:600301 a owl:Class ; @@ -119648,15 +122748,16 @@ OMIM:600301 a owl:Class ; PMID:7759115 ; RO:0002525 CHR:9606chr10q26.13 ; RO:0003303 OMIM:610006 ; - oboInOwl:hasDbXref UMLS:C1412109, - UMLS:C1864912 ; oboInOwl:hasExactSynonym "2-methylbutyryl-coa dehydrogenase", "ACADSB", "acyl-coa dehydrogenase, short/branched chain", "sbcad" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:36 ; - skos:exactMatch HGNC_symbol:ACADSB ; + skos:exactMatch UMLS:C1412109, + UMLS:C1864912, + HGNC:91, + HGNC_symbol:ACADSB ; biolink:category biolink:Gene . OMIM:600302 a owl:Class ; @@ -119664,23 +122765,24 @@ OMIM:600302 a owl:Class ; IAO:0000142 PMID:12923872, PMID:8076406, PMID:9777344 ; - oboInOwl:hasDbXref UMLS:C1838281 ; oboInOwl:hasExactSynonym "fryns macrocephaly", - "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" . + "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" ; + skos:exactMatch UMLS:C1838281 . OMIM:600303 a owl:Class ; rdfs:label "RAPGEF1" ; IAO:0000142 PMID:15138850, PMID:7512734, PMID:7959692 ; - oboInOwl:hasDbXref UMLS:C1415285 ; oboInOwl:hasExactSynonym "RAPGEF1", "crk sh3-binding gnrp", "guanine nucleotide-releasing factor 2", "rap guanine nucleotide exchange factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2889 ; - skos:exactMatch HGNC_symbol:RAPGEF1 ; + skos:exactMatch UMLS:C1415285, + HGNC:4568, + HGNC_symbol:RAPGEF1 ; biolink:category biolink:Gene . OMIM:600304 a owl:Class ; @@ -119691,7 +122793,6 @@ OMIM:600305 a owl:Class ; rdfs:label "ECI1" ; IAO:0000142 PMID:10585880, PMID:7829074 ; - oboInOwl:hasDbXref UMLS:C1413929 ; oboInOwl:hasExactSynonym "3,2-trans-enoyl-coa isomerase", "ECI1", "delta-3-delta-2-enoyl-coa isomerase", @@ -119699,7 +122800,9 @@ OMIM:600305 a owl:Class ; "enoyl-coa delta isomerase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1632 ; - skos:exactMatch HGNC_symbol:ECI1 ; + skos:exactMatch UMLS:C1413929, + HGNC:2703, + HGNC_symbol:ECI1 ; biolink:category biolink:Gene . OMIM:600306 a owl:Class ; @@ -119708,7 +122811,6 @@ OMIM:600306 a owl:Class ; PMID:7820546, PMID:8066462, PMID:9344661 ; - oboInOwl:hasDbXref UMLS:C1419015 ; oboInOwl:hasExactSynonym "PSMB5", "proteasome subunit 10", "proteasome subunit beta-5", @@ -119716,7 +122818,9 @@ OMIM:600306 a owl:Class ; "psx large multifunctional protease 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5693 ; - skos:exactMatch HGNC_symbol:PSMB5 ; + skos:exactMatch UMLS:C1419015, + HGNC:9542, + HGNC_symbol:PSMB5 ; biolink:category biolink:Gene . OMIM:600307 a owl:Class ; @@ -119725,7 +122829,6 @@ OMIM:600307 a owl:Class ; PMID:7820546, PMID:8066462, PMID:8811196 ; - oboInOwl:hasDbXref UMLS:C1419016 ; oboInOwl:hasExactSynonym "PSMB6", "proteasome subunit beta-1", "proteasome subunit delta", @@ -119734,7 +122837,9 @@ OMIM:600307 a owl:Class ; "psy large multifunctional protease y" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5694 ; - skos:exactMatch HGNC_symbol:PSMB6 ; + skos:exactMatch UMLS:C1419016, + HGNC:9543, + HGNC_symbol:PSMB6 ; biolink:category biolink:Gene . OMIM:600310 a owl:Class ; @@ -119772,27 +122877,29 @@ OMIM:600310 a owl:Class ; PMID:9921895 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:177170 ; - oboInOwl:hasDbXref UMLS:C1456376 ; oboInOwl:hasExactSynonym "COMP", "cartilage oligomeric matrix protein", "thrombospondin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1311 ; - skos:exactMatch HGNC_symbol:COMP ; + skos:exactMatch UMLS:C1456376, + HGNC:2227, + HGNC_symbol:COMP ; biolink:category biolink:Gene . OMIM:600311 a owl:Class ; rdfs:label "GZMM" ; IAO:0000142 PMID:16116214, PMID:7713495 ; - oboInOwl:hasDbXref UMLS:C1415383 ; oboInOwl:hasExactSynonym "GZMM", "granzyme m", "lymphocyte met-ase 1", "protease, serine, natural killer cell, met-ase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3004 ; - skos:exactMatch HGNC_symbol:GZMM ; + skos:exactMatch UMLS:C1415383, + HGNC:4712, + HGNC_symbol:GZMM ; biolink:category biolink:Gene . OMIM:600312 a owl:Class ; @@ -119806,7 +122913,6 @@ OMIM:600312 a owl:Class ; PMID:8226881, PMID:9013634, PMID:9211940 ; - oboInOwl:hasDbXref UMLS:C1417879 ; oboInOwl:hasExactSynonym "8-oxo-7,8-dihydroguanosine triphosphatase", "NUDT1", "mutt homolog 1", @@ -119815,7 +122921,9 @@ OMIM:600312 a owl:Class ; "nudix motif 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4521 ; - skos:exactMatch HGNC_symbol:NUDT1 ; + skos:exactMatch UMLS:C1417879, + HGNC:8048, + HGNC_symbol:NUDT1 ; biolink:category biolink:Gene . OMIM:600313 a owl:Class ; @@ -119827,13 +122935,14 @@ OMIM:600314 a owl:Class ; IAO:0000142 PMID:1423600, PMID:7713524, PMID:8302579 ; - oboInOwl:hasDbXref UMLS:C1420033 ; oboInOwl:hasExactSynonym "SHB", "sh2 domain-containing adaptor protein B", "shb adaptor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6461 ; - skos:exactMatch HGNC_symbol:SHB ; + skos:exactMatch UMLS:C1420033, + HGNC:10838, + HGNC_symbol:SHB ; biolink:category biolink:Gene . OMIM:600315 a owl:Class ; @@ -119851,7 +122960,6 @@ OMIM:600315 a owl:Class ; PMID:7737295 ; RO:0002525 CHR:9606chr1p36.33 ; RO:0003303 OMIM:615593 ; - oboInOwl:hasDbXref UMLS:C1420812 ; oboInOwl:hasExactSynonym "TNFRSF4", "cd134", "lymphoid activation antigen act35", @@ -119860,19 +122968,22 @@ OMIM:600315 a owl:Class ; "tumor necrosis factor receptor superfamily, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7293 ; - skos:exactMatch HGNC_symbol:TNFRSF4 ; + skos:exactMatch UMLS:C1420812, + HGNC:11918, + HGNC_symbol:TNFRSF4 ; biolink:category biolink:Gene . OMIM:600317 a owl:Class ; rdfs:label "TPM4" ; IAO:0000142 PMID:7704029, PMID:8641132 ; - oboInOwl:hasDbXref UMLS:C1420875 ; oboInOwl:hasExactSynonym "TPM4", "tropomyosin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7171 ; - skos:exactMatch HGNC_symbol:TPM4 ; + skos:exactMatch UMLS:C1420875, + HGNC:12013, + HGNC_symbol:TPM4 ; biolink:category biolink:Gene . OMIM:600322 a owl:Class ; @@ -119908,22 +123019,22 @@ OMIM:600322 a owl:Class ; PMID:9529252 ; RO:0002525 CHR:9606chr20p12.2 ; RO:0003303 OMIM:616330 ; - oboInOwl:hasDbXref UMLS:C1420270, - UMLS:C4225364 ; oboInOwl:hasExactSynonym "SNAP25", "snap", "synaptosomal-associated protein 25", "synaptosomal-associated protein, 25-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6616 ; - skos:exactMatch HGNC_symbol:SNAP25 ; + skos:exactMatch UMLS:C1420270, + UMLS:C4225364, + HGNC:11132, + HGNC_symbol:SNAP25 ; biolink:category biolink:Gene . OMIM:600323 a owl:Class ; rdfs:label "RGS1" ; IAO:0000142 PMID:11829488, PMID:8241276 ; - oboInOwl:hasDbXref UMLS:C1366525 ; oboInOwl:hasExactSynonym "1r20", "RGS1", "bl34", @@ -119931,7 +123042,9 @@ OMIM:600323 a owl:Class ; "regulator of g protein signaling 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5996 ; - skos:exactMatch HGNC_symbol:RGS1 ; + skos:exactMatch UMLS:C1366525, + HGNC:9991, + HGNC_symbol:RGS1 ; biolink:category biolink:Gene . OMIM:600324 a owl:Class ; @@ -119941,7 +123054,6 @@ OMIM:600324 a owl:Class ; PMID:7929219, PMID:8574748, PMID:9164944 ; - oboInOwl:hasDbXref UMLS:C1332819 ; oboInOwl:hasExactSynonym "CXCL5", "chemokine, cxc motif, ligand 5", "lipopolysaccharide-induced cxc chemokine", @@ -119949,7 +123061,9 @@ OMIM:600324 a owl:Class ; "small inducible cytokine subfamily b, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6374 ; - skos:exactMatch HGNC_symbol:CXCL5 ; + skos:exactMatch UMLS:C1332819, + HGNC:10642, + HGNC_symbol:CXCL5 ; biolink:category biolink:Gene . OMIM:600325 a owl:Class ; @@ -119961,10 +123075,10 @@ OMIM:600325 a owl:Class ; PMID:7267231, PMID:7888136, PMID:7894742 ; - oboInOwl:hasDbXref UMLS:C0795939 ; oboInOwl:hasExactSynonym "ASSA", "aminopterin syndrome sine aminopterin", "pseudoaminopterin syndrome" ; + skos:exactMatch UMLS:C0795939 ; biolink:category biolink:Disease . OMIM:600327 a owl:Class ; @@ -119975,12 +123089,13 @@ OMIM:600327 a owl:Class ; PMID:8163462, PMID:8268667, PMID:8747928 ; - oboInOwl:hasDbXref UMLS:C1420558 ; oboInOwl:hasExactSynonym "SYT3", "synaptotagmin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84258 ; - skos:exactMatch HGNC_symbol:SYT3 ; + skos:exactMatch UMLS:C1420558, + HGNC:11511, + HGNC_symbol:SYT3 ; biolink:category biolink:Gene . OMIM:600328 a owl:Class ; @@ -119988,14 +123103,15 @@ OMIM:600328 a owl:Class ; IAO:0000142 PMID:23945586, PMID:7906940, PMID:8058765 ; - oboInOwl:hasDbXref UMLS:C1334517 ; oboInOwl:hasExactSynonym "MLLT6", "all1-fused gene from chromosome 17", "mixed lineage leukemia, translocated to, 6", "mllt6, phd finger-containing" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4302 ; - skos:exactMatch HGNC_symbol:MLLT6 ; + skos:exactMatch UMLS:C1334517, + HGNC:7138, + HGNC_symbol:MLLT6 ; biolink:category biolink:Gene . OMIM:600329 a owl:Class ; @@ -120003,8 +123119,8 @@ OMIM:600329 a owl:Class ; IAO:0000142 PMID:4735089, PMID:6682191, PMID:7577667 ; - oboInOwl:hasDbXref UMLS:C1838258 ; - oboInOwl:hasExactSynonym "osteopetrosis and infantile neuroaxonal dystrophy" . + oboInOwl:hasExactSynonym "osteopetrosis and infantile neuroaxonal dystrophy" ; + skos:exactMatch UMLS:C1838258 . OMIM:600330 a owl:Class ; IAO:0100001 OMIM:102500 ; @@ -120013,22 +123129,22 @@ OMIM:600330 a owl:Class ; OMIM:600331 a owl:Class ; rdfs:label "parc syndrome" ; IAO:0000142 PMID:2242783 ; - oboInOwl:hasDbXref UMLS:C1838256 ; oboInOwl:hasExactSynonym "parc syndrome", - "poikiloderma, alopecia, retrognathism, and cleft palate" . + "poikiloderma, alopecia, retrognathism, and cleft palate" ; + skos:exactMatch UMLS:C1838256 . OMIM:600333 a owl:Class ; rdfs:label "motor neuron disease with dementia and ophthalmoplegia" ; IAO:0000142 PMID:7836962 ; - oboInOwl:hasDbXref UMLS:C1838253 ; - oboInOwl:hasExactSynonym "motor neuron disease with dementia and ophthalmoplegia" . + oboInOwl:hasExactSynonym "motor neuron disease with dementia and ophthalmoplegia" ; + skos:exactMatch UMLS:C1838253 . OMIM:600335 a owl:Class ; rdfs:label "succinic acidemia" ; IAO:0000142 PMID:2387080, PMID:3383430 ; - oboInOwl:hasDbXref UMLS:C1838243 ; - oboInOwl:hasExactSynonym "succinic acidemia" . + oboInOwl:hasExactSynonym "succinic acidemia" ; + skos:exactMatch UMLS:C1838243 . OMIM:600336 a owl:Class ; rdfs:label "SLC18A3" ; @@ -120037,13 +123153,14 @@ OMIM:600336 a owl:Class ; PMID:8071310 ; RO:0002525 CHR:9606chr10q11.23 ; RO:0003303 OMIM:617239 ; - oboInOwl:hasDbXref UMLS:C1420116 ; oboInOwl:hasExactSynonym "SLC18A3", "solute carrier family 18 (vesicular acetylcholine), member 3", "vesicular acetylcholine transporter" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6572 ; - skos:exactMatch HGNC_symbol:SLC18A3 ; + skos:exactMatch UMLS:C1420116, + HGNC:10936, + HGNC_symbol:SLC18A3 ; biolink:category biolink:Gene . OMIM:600337 a owl:Class ; @@ -120056,14 +123173,15 @@ OMIM:600337 a owl:Class ; PMID:8651911, PMID:8660997, PMID:8808279 ; - oboInOwl:hasDbXref UMLS:C1439290 ; oboInOwl:hasExactSynonym "BDKRB1", "b1r", "bradykinin receptor 1", "bradykinin receptor b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:623 ; - skos:exactMatch HGNC_symbol:BDKRB1 ; + skos:exactMatch UMLS:C1439290, + HGNC:1029, + HGNC_symbol:BDKRB1 ; biolink:category biolink:Gene . OMIM:600338 a owl:Class ; @@ -120074,39 +123192,42 @@ OMIM:600338 a owl:Class ; PMID:24125761, PMID:8063807, PMID:9299245 ; - oboInOwl:hasDbXref UMLS:C1412051 ; oboInOwl:hasExactSynonym "AADAC", "arylacetamide deacetylase", "dac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:13 ; - skos:exactMatch HGNC_symbol:AADAC ; + skos:exactMatch UMLS:C1412051, + HGNC:17, + HGNC_symbol:AADAC ; biolink:category biolink:Gene . OMIM:600339 a owl:Class ; rdfs:label "HDGF" ; IAO:0000142 PMID:7929202, PMID:8833162 ; - oboInOwl:hasDbXref UMLS:C1415506 ; oboInOwl:hasExactSynonym "HDGF", "hepatoma-derived growth factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3068 ; - skos:exactMatch HGNC_symbol:HDGF ; + skos:exactMatch UMLS:C1415506, + HGNC:4856, + HGNC_symbol:HDGF ; biolink:category biolink:Gene . OMIM:600340 a owl:Class ; rdfs:label "PLLP" ; IAO:0000142 PMID:11707781, PMID:7929173 ; - oboInOwl:hasDbXref UMLS:C1538680 ; oboInOwl:hasExactSynonym "PLLP", "plasma membrane proteolipid", "plasmolipin", "transmembrane 4 superfamily, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51090 ; - skos:exactMatch HGNC_symbol:PLLP ; + skos:exactMatch UMLS:C1538680, + HGNC:18553, + HGNC_symbol:PLLP ; biolink:category biolink:Gene . OMIM:600341 a owl:Class ; @@ -120120,13 +123241,14 @@ OMIM:600341 a owl:Class ; PMID:8262388, PMID:8661728, PMID:8661736 ; - oboInOwl:hasDbXref UMLS:C1367457 ; oboInOwl:hasExactSynonym "TYRO3", "protein tyrosine kinase 3", "tyro3 protein tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7301 ; - skos:exactMatch HGNC_symbol:TYRO3 ; + skos:exactMatch UMLS:C1367457, + HGNC:12446, + HGNC_symbol:TYRO3 ; biolink:category biolink:Gene . OMIM:600342 a owl:Class ; @@ -120140,13 +123262,14 @@ OMIM:600342 a owl:Class ; PMID:8641686 ; RO:0002525 CHR:9606chr10q23.1 ; RO:0003303 OMIM:613769 ; - oboInOwl:hasDbXref UMLS:C1419367 ; oboInOwl:hasExactSynonym "RGR", "g protein-coupled receptor, retinal", "rpe-retinal g protein-coupled receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5995 ; - skos:exactMatch HGNC_symbol:RGR ; + skos:exactMatch UMLS:C1419367, + HGNC:9990, + HGNC_symbol:RGR ; biolink:category biolink:Gene . OMIM:600343 a owl:Class ; @@ -120160,9 +123283,9 @@ OMIM:600343 a owl:Class ; PMID:7281479, PMID:7639138, PMID:8859246 ; - oboInOwl:hasDbXref UMLS:C3551133 ; oboInOwl:hasExactSynonym "PDDP", "parotid salivary glands, polycystic dysgenetic disease of" ; + skos:exactMatch UMLS:C3551133 ; biolink:category biolink:Disease . OMIM:600344 a owl:Class ; @@ -120176,12 +123299,13 @@ OMIM:600345 a owl:Class ; PMID:7590736, PMID:8144591, PMID:8439318 ; - oboInOwl:hasDbXref UMLS:C1332453 ; oboInOwl:hasExactSynonym "BTC", "betacellulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:685 ; - skos:exactMatch HGNC_symbol:BTC ; + skos:exactMatch UMLS:C1332453, + HGNC:1121, + HGNC_symbol:BTC ; biolink:category biolink:Gene . OMIM:600346 a owl:Class ; @@ -120196,14 +123320,15 @@ OMIM:600346 a owl:Class ; PMID:8325509 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:618371 ; - oboInOwl:hasDbXref UMLS:C1538598 ; oboInOwl:hasExactSynonym "PCGF2", "mel18", "polycomb group ring finger protein 2", "zinc finger protein 144" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7703 ; - skos:exactMatch HGNC_symbol:PCGF2 ; + skos:exactMatch UMLS:C1538598, + HGNC:12929, + HGNC_symbol:PCGF2 ; biolink:category biolink:Gene . OMIM:600347 a owl:Class ; @@ -120215,15 +123340,16 @@ OMIM:600347 a owl:Class ; PMID:21821125, PMID:8144512, PMID:9286696 ; - oboInOwl:hasDbXref UMLS:C1427881, - UMLS:C1447273 ; oboInOwl:hasExactSynonym "BCAN", "brain-enriched hyaluronan-binding", "brevican", "chondroitin sulfate proteoglycan 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63827 ; - skos:exactMatch HGNC_symbol:BCAN ; + skos:exactMatch UMLS:C1427881, + UMLS:C1447273, + HGNC:23059, + HGNC_symbol:BCAN ; biolink:category biolink:Gene . OMIM:600349 a owl:Class ; @@ -120246,13 +123372,14 @@ OMIM:600349 a owl:Class ; PMID:8294468, PMID:8586447, PMID:9070860 ; - oboInOwl:hasDbXref UMLS:C1415855 ; oboInOwl:hasExactSynonym "ID1", "inhibitor of DNA binding 1", "inhibitor of differentiation 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3397 ; - skos:exactMatch HGNC_symbol:ID1 ; + skos:exactMatch UMLS:C1415855, + HGNC:5360, + HGNC_symbol:ID1 ; biolink:category biolink:Gene . OMIM:600350 a owl:Class ; @@ -120262,8 +123389,8 @@ OMIM:600350 a owl:Class ; OMIM:600351 a owl:Class ; rdfs:label "enteropathy, familial, with villous edema and immunoglobulin g2 deficiency" ; IAO:0000142 PMID:7931871 ; - oboInOwl:hasDbXref UMLS:C1838238 ; - oboInOwl:hasExactSynonym "enteropathy, familial, with villous edema and immunoglobulin g2 deficiency" . + oboInOwl:hasExactSynonym "enteropathy, familial, with villous edema and immunoglobulin g2 deficiency" ; + skos:exactMatch UMLS:C1838238 . OMIM:600352 a owl:Class ; IAO:0100001 OMIM:112205 ; @@ -120279,13 +123406,14 @@ OMIM:600353 a owl:Class ; PMID:7759097, PMID:8530009, PMID:8752830 ; - oboInOwl:hasDbXref UMLS:C1419789 ; oboInOwl:hasExactSynonym "S100A7", "psoriasin", "s100 calcium-binding protein a7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6278 ; - skos:exactMatch HGNC_symbol:S100A7 ; + skos:exactMatch UMLS:C1419789, + HGNC:10497, + HGNC_symbol:S100A7 ; biolink:category biolink:Gene . OMIM:600354 a owl:Class ; @@ -120419,7 +123547,6 @@ OMIM:600354 a owl:Class ; PMID:9845364 ; RO:0002525 CHR:9606chr5q13.2 ; RO:0003303 OMIM:271150 ; - oboInOwl:hasDbXref UMLS:C1420257 ; oboInOwl:hasExactSynonym "SMN1", "smn", "survival of motor neuron 1", @@ -120427,7 +123554,9 @@ OMIM:600354 a owl:Class ; "t-bcd541" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6606 ; - skos:exactMatch HGNC_symbol:SMN1 ; + skos:exactMatch UMLS:C1420257, + HGNC:11117, + HGNC_symbol:SMN1 ; biolink:category biolink:Gene . OMIM:600355 a owl:Class ; @@ -120443,13 +123572,14 @@ OMIM:600355 a owl:Class ; PMID:7813013, PMID:8552191, PMID:9069126 ; - oboInOwl:hasDbXref UMLS:C1332413 ; oboInOwl:hasExactSynonym "NAIP", "baculoviral iap repeat-containing protein 1", "neuronal apoptosis inhibitory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4671 ; - skos:exactMatch HGNC_symbol:NAIP ; + skos:exactMatch UMLS:C1332413, + HGNC:7634, + HGNC_symbol:NAIP ; biolink:category biolink:Gene . OMIM:600356 a owl:Class ; @@ -120457,20 +123587,21 @@ OMIM:600356 a owl:Class ; IAO:0000142 PMID:1517493, PMID:2032373, PMID:7817679 ; - oboInOwl:hasDbXref UMLS:C1838218 ; - oboInOwl:hasExactSynonym "pachydermodactyly, familial" . + oboInOwl:hasExactSynonym "pachydermodactyly, familial" ; + skos:exactMatch UMLS:C1838218 . OMIM:600357 a owl:Class ; rdfs:label "RPS8" ; IAO:0000142 PMID:1712897, PMID:8432552, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419752 ; oboInOwl:hasExactSynonym "RPS8", "ribosomal protein s8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6202 ; - skos:exactMatch HGNC_symbol:RPS8 ; + skos:exactMatch UMLS:C1419752, + HGNC:10441, + HGNC_symbol:RPS8 ; biolink:category biolink:Gene . OMIM:600358 a owl:Class ; @@ -120478,15 +123609,16 @@ OMIM:600358 a owl:Class ; IAO:0000142 PMID:11110714, PMID:8089153, PMID:9195163 ; - oboInOwl:hasDbXref UMLS:C1415137, - UMLS:C1838217 ; oboInOwl:hasExactSynonym "GMPS", "gmp synthetase", "gmps/mll fusion gene", "guanine monophosphate synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8833 ; - skos:exactMatch HGNC_symbol:GMPS ; + skos:exactMatch UMLS:C1415137, + UMLS:C1838217, + HGNC:4378, + HGNC_symbol:GMPS ; biolink:category biolink:Gene . OMIM:600359 a owl:Class ; @@ -120509,22 +123641,23 @@ OMIM:600359 a owl:Class ; PMID:9727001 ; RO:0002525 CHR:9606chr11q24.3 ; RO:0003303 OMIM:241200 ; - oboInOwl:hasDbXref UMLS:C1416576 ; oboInOwl:hasExactSynonym "KCNJ1", "kir1.1", "potassium channel, inwardly rectifying, subfamily j, member 1", "renal outer-medullary potassium channel" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3758 ; - skos:exactMatch HGNC_symbol:KCNJ1 ; + skos:exactMatch UMLS:C1416576, + HGNC:6255, + HGNC_symbol:KCNJ1 ; biolink:category biolink:Gene . OMIM:600360 a owl:Class ; rdfs:label "aplasia cutis congenita of limbs, autosomal recessive" ; IAO:0000142 PMID:7024206, PMID:7381866 ; - oboInOwl:hasDbXref UMLS:C1838206 ; oboInOwl:hasExactSynonym "aplasia cutis congenita of limbs, autosomal recessive" ; + skos:exactMatch UMLS:C1838206 ; biolink:category biolink:Disease . OMIM:600362 a owl:Class ; @@ -120533,14 +123666,15 @@ OMIM:600362 a owl:Class ; PMID:7825574, PMID:8248259, PMID:9177775 ; - oboInOwl:hasDbXref UMLS:C1414634 ; oboInOwl:hasExactSynonym "FLII", "fli", "flightless i, drosophila, homolog of", "flii actin remodeling protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2314 ; - skos:exactMatch HGNC_symbol:FLII ; + skos:exactMatch UMLS:C1414634, + HGNC:3750, + HGNC_symbol:FLII ; biolink:category biolink:Gene . OMIM:600364 a owl:Class ; @@ -120561,14 +123695,15 @@ OMIM:600364 a owl:Class ; PMID:9702199 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:602093 ; - oboInOwl:hasDbXref UMLS:C1415354 ; oboInOwl:hasExactSynonym "GUCA1A", "guanylate cyclase activator 1a", "guanylate cyclase-activating protein, photoreceptor 1", "guanylin 1, retina" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2978 ; - skos:exactMatch HGNC_symbol:GUCA1A ; + skos:exactMatch UMLS:C1415354, + HGNC:4678, + HGNC_symbol:GUCA1A ; biolink:category biolink:Gene . OMIM:600365 a owl:Class ; @@ -120576,13 +123711,14 @@ OMIM:600365 a owl:Class ; IAO:0000142 PMID:2587217, PMID:7829075, PMID:8349582 ; - oboInOwl:hasDbXref UMLS:C1412101 ; oboInOwl:hasExactSynonym "ABR", "abr activator of rhogef and gtpase", "active bcr-related gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29 ; - skos:exactMatch HGNC_symbol:ABR ; + skos:exactMatch UMLS:C1412101, + HGNC:81, + HGNC_symbol:ABR ; biolink:category biolink:Gene . OMIM:600366 a owl:Class ; @@ -120598,14 +123734,15 @@ OMIM:600366 a owl:Class ; PMID:23873040, PMID:7528105, PMID:7912209 ; - oboInOwl:hasDbXref UMLS:C1416480 ; oboInOwl:hasExactSynonym "ISL1", "isl 51m homeobox 1", "isl1 transcription factor, lim/homeodomain", "islet1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3670 ; - skos:exactMatch HGNC_symbol:ISL1 ; + skos:exactMatch UMLS:C1416480, + HGNC:6132, + HGNC_symbol:ISL1 ; biolink:category biolink:Gene . OMIM:600367 a owl:Class ; @@ -120613,13 +123750,14 @@ OMIM:600367 a owl:Class ; IAO:0000142 PMID:10568747, PMID:10669729, PMID:7984242 ; - oboInOwl:hasDbXref UMLS:C1413781 ; oboInOwl:hasExactSynonym "CSTF3", "cleavage stimulation factor, 3-prime pre-rna, subunit 3, 77-kd", "cstf, 77-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1479 ; - skos:exactMatch HGNC_symbol:CSTF3 ; + skos:exactMatch UMLS:C1413781, + HGNC:2485, + HGNC_symbol:CSTF3 ; biolink:category biolink:Gene . OMIM:600368 a owl:Class ; @@ -120630,12 +123768,13 @@ OMIM:600369 a owl:Class ; rdfs:label "CSTF1" ; IAO:0000142 PMID:10477523, PMID:1358884 ; - oboInOwl:hasDbXref UMLS:C1413779 ; oboInOwl:hasExactSynonym "CSTF1", "cleavage stimulation factor, 3-prime pre-rna, subunit 1, 50-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1477 ; - skos:exactMatch HGNC_symbol:CSTF1 ; + skos:exactMatch UMLS:C1413779, + HGNC:2483, + HGNC_symbol:CSTF1 ; biolink:category biolink:Gene . OMIM:600370 a owl:Class ; @@ -120650,14 +123789,15 @@ OMIM:600370 a owl:Class ; PMID:9733094 ; RO:0002525 CHR:9606chr12q23.1 ; RO:0003303 OMIM:610773 ; - oboInOwl:hasDbXref UMLS:C1420160, - UMLS:C1835845 ; oboInOwl:hasExactSynonym "SLC25A3", "phosphate carrier, mitochondrial", "solute carrier family 25 (mitochondrial carrier), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5250 ; - skos:exactMatch HGNC_symbol:SLC25A3 ; + skos:exactMatch UMLS:C1420160, + UMLS:C1835845, + HGNC:10989, + HGNC_symbol:SLC25A3 ; biolink:category biolink:Gene . OMIM:600371 a owl:Class ; @@ -120668,12 +123808,13 @@ OMIM:600372 a owl:Class ; rdfs:label "NEDD1" ; IAO:0000142 PMID:1378265, PMID:7814034 ; - oboInOwl:hasDbXref UMLS:C1417657 ; oboInOwl:hasExactSynonym "NEDD1", "neural precursor cell expressed, developmentally downregulated 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121441 ; - skos:exactMatch HGNC_symbol:NEDD1 ; + skos:exactMatch UMLS:C1417657, + HGNC:7723, + HGNC_symbol:NEDD1 ; biolink:category biolink:Gene . OMIM:600374 a owl:Class ; @@ -120700,13 +123841,14 @@ OMIM:600374 a owl:Class ; PMID:7711739 ; RO:0002525 CHR:9606chr15q24.1 ; RO:0003303 OMIM:615982 ; - oboInOwl:hasDbXref UMLS:C1412749, - UMLS:C2936864 ; oboInOwl:hasExactSynonym "BBS4", "bbs4 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:585 ; - skos:exactMatch HGNC_symbol:BBS4 ; + skos:exactMatch UMLS:C1412749, + UMLS:C2936864, + HGNC:969, + HGNC_symbol:BBS4 ; biolink:category biolink:Gene . OMIM:600375 a owl:Class ; @@ -120734,16 +123876,17 @@ OMIM:600375 a owl:Class ; PMID:9126486 ; RO:0002525 CHR:9606chr7q36.1 ; RO:0003303 OMIM:619145 ; - oboInOwl:hasDbXref UMLS:C1337031, - UMLS:C4310651, - UMLS:C5436888, - UMLS:C5436889 ; oboInOwl:hasExactSynonym "XRCC2", "x-ray repair cross complementing 2", "x-ray repair, complementing defective, 1n chinese hamster, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7516 ; - skos:exactMatch HGNC_symbol:XRCC2 ; + skos:exactMatch UMLS:C1337031, + UMLS:C4310651, + UMLS:C5436888, + UMLS:C5436889, + HGNC:12829, + HGNC_symbol:XRCC2 ; biolink:category biolink:Gene . OMIM:600377 a owl:Class ; @@ -120757,14 +123900,15 @@ OMIM:600377 a owl:Class ; PMID:9286448, PMID:9337411, PMID:9367674 ; - oboInOwl:hasDbXref UMLS:C1414960 ; oboInOwl:hasExactSynonym "GALR1", "galanin receptor 1", "galanin receptor 1, brain", "galnr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2587 ; - skos:exactMatch HGNC_symbol:GALR1 ; + skos:exactMatch UMLS:C1414960, + HGNC:4132, + HGNC_symbol:GALR1 ; biolink:category biolink:Gene . OMIM:600378 a owl:Class ; @@ -120775,7 +123919,6 @@ OMIM:600378 a owl:Class ; PMID:22228767, PMID:8039717, PMID:9168817 ; - oboInOwl:hasDbXref UMLS:C1416423 ; oboInOwl:hasExactSynonym "IMMT", "heart muscle protein", "inner membrane protein, mitochondrial", @@ -120785,7 +123928,9 @@ OMIM:600378 a owl:Class ; "mitofilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10989 ; - skos:exactMatch HGNC_symbol:IMMT ; + skos:exactMatch UMLS:C1416423, + HGNC:6047, + HGNC_symbol:IMMT ; biolink:category biolink:Gene . OMIM:600379 a owl:Class ; @@ -120794,13 +123939,14 @@ OMIM:600379 a owl:Class ; PMID:17928203, PMID:27358179, PMID:9373037 ; - oboInOwl:hasDbXref UMLS:C1417584 ; oboInOwl:hasExactSynonym "MYT1", "myelin transcription factor 1", "proteolipid protein-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4661 ; - skos:exactMatch HGNC_symbol:MYT1 ; + skos:exactMatch UMLS:C1417584, + HGNC:7622, + HGNC_symbol:MYT1 ; biolink:category biolink:Gene . OMIM:600380 a owl:Class ; @@ -120820,7 +123966,6 @@ OMIM:600380 a owl:Class ; PMID:7782080, PMID:7926814, PMID:9874807 ; - oboInOwl:hasDbXref UMLS:C1417823 ; oboInOwl:hasExactSynonym "NR1H2", "lx receptor beta", "ner", @@ -120828,18 +123973,21 @@ OMIM:600380 a owl:Class ; "ubiquitously expressed nuclear receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7376 ; - skos:exactMatch HGNC_symbol:NR1H2 ; + skos:exactMatch UMLS:C1417823, + HGNC:7965, + HGNC_symbol:NR1H2 ; biolink:category biolink:Gene . OMIM:600382 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:8056341 ; - oboInOwl:hasDbXref UMLS:C1824913 ; oboInOwl:hasExactSynonym "irlb", "myc promoter-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10260 ; - skos:exactMatch HGNC_symbol:DENND4A ; + skos:exactMatch UMLS:C1824913, + HGNC:24321, + HGNC_symbol:DENND4A ; biolink:category biolink:Gene . OMIM:600383 a owl:Class ; @@ -120851,11 +123999,11 @@ OMIM:600383 a owl:Class ; PMID:7735504, PMID:9856555 ; RO:0002525 CHR:9606chr8q13 ; - oboInOwl:hasDbXref UMLS:C1838162 ; oboInOwl:hasExactSynonym "chromosome 8q13 deletion syndrome", "mesomelia-synostoses syndrome", "mesomelic dysplasia with acral synostoses, verloes-david-pfeiffer iia", "mesomelic dysplasia, syndromic" ; + skos:exactMatch UMLS:C1838162 ; biolink:category biolink:Disease . OMIM:600384 a owl:Class ; @@ -120864,8 +124012,8 @@ OMIM:600384 a owl:Class ; PMID:19449409, PMID:25304118, PMID:7717420 ; - oboInOwl:hasDbXref UMLS:C1838161 ; oboInOwl:hasExactSynonym "aphalangia, partial, with syndactyly and duplication of metatarsal 4" ; + skos:exactMatch UMLS:C1838161 ; biolink:category biolink:Disease . OMIM:600385 a owl:Class ; @@ -120873,13 +124021,14 @@ OMIM:600385 a owl:Class ; IAO:0000142 PMID:12503609, PMID:7860067, PMID:8476432 ; - oboInOwl:hasDbXref UMLS:C1412226 ; oboInOwl:hasExactSynonym "ADCY7", "adenylate cyclase 7", "adenylyl cyclase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113 ; - skos:exactMatch HGNC_symbol:ADCY7 ; + skos:exactMatch UMLS:C1412226, + HGNC:238, + HGNC_symbol:ADCY7 ; biolink:category biolink:Gene . OMIM:600386 a owl:Class ; @@ -120902,13 +124051,14 @@ OMIM:600386 a owl:Class ; PMID:8294468, PMID:8586447, PMID:8649364 ; - oboInOwl:hasDbXref UMLS:C1334077 ; oboInOwl:hasExactSynonym "ID2", "inhibitor of DNA binding 2", "inhibitor of differentiation 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3398 ; - skos:exactMatch HGNC_symbol:ID2 ; + skos:exactMatch UMLS:C1334077, + HGNC:5361, + HGNC_symbol:ID2 ; biolink:category biolink:Gene . OMIM:600387 a owl:Class ; @@ -120917,13 +124067,14 @@ OMIM:600387 a owl:Class ; PMID:22722868, PMID:8202488, PMID:8441146 ; - oboInOwl:hasDbXref UMLS:C1412830 ; oboInOwl:hasExactSynonym "BST1", "bone marrow stromal cell antigen 1", "cd157" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:683 ; - skos:exactMatch HGNC_symbol:BST1 ; + skos:exactMatch UMLS:C1412830, + HGNC:1118, + HGNC_symbol:BST1 ; biolink:category biolink:Gene . OMIM:600388 a owl:Class ; @@ -120933,12 +124084,13 @@ OMIM:600388 a owl:Class ; PMID:7774936, PMID:8407940, PMID:9186525 ; - oboInOwl:hasDbXref UMLS:C1417113 ; oboInOwl:hasExactSynonym "MEP1A", "meprin, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4224 ; - skos:exactMatch HGNC_symbol:MEP1A ; + skos:exactMatch UMLS:C1417113, + HGNC:7015, + HGNC_symbol:MEP1A ; biolink:category biolink:Gene . OMIM:600389 a owl:Class ; @@ -120947,12 +124099,13 @@ OMIM:600389 a owl:Class ; PMID:15034068, PMID:7774936, PMID:8407940 ; - oboInOwl:hasDbXref UMLS:C1417118 ; oboInOwl:hasExactSynonym "MEP1B", "meprin, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4225 ; - skos:exactMatch HGNC_symbol:MEP1B ; + skos:exactMatch UMLS:C1417118, + HGNC:7020, + HGNC_symbol:MEP1B ; biolink:category biolink:Gene . OMIM:600390 a owl:Class ; @@ -120969,14 +124122,15 @@ OMIM:600390 a owl:Class ; PMID:9685363, PMID:9880489, PMID:9890958 ; - oboInOwl:hasDbXref UMLS:C1421377 ; oboInOwl:hasExactSynonym "USF2", "fos-interacting protein", "upstream stimulatory factor 2", "upstream transcription factor 2, fos-interacting" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7392 ; - skos:exactMatch HGNC_symbol:USF2 ; + skos:exactMatch UMLS:C1421377, + HGNC:12594, + HGNC_symbol:USF2 ; biolink:category biolink:Gene . OMIM:600391 a owl:Class ; @@ -120984,26 +124138,28 @@ OMIM:600391 a owl:Class ; IAO:0000142 PMID:7774911, PMID:8449405, PMID:9915862 ; - oboInOwl:hasDbXref UMLS:C1415021 ; oboInOwl:hasExactSynonym "GCNT1", "beta-1,6-n-acetylglucosaminyltransferase 1", "glucosaminyl (n-acetyl) transferase 1, core 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2650 ; - skos:exactMatch HGNC_symbol:GCNT1 ; + skos:exactMatch UMLS:C1415021, + HGNC:4203, + HGNC_symbol:GCNT1 ; biolink:category biolink:Gene . OMIM:600392 a owl:Class ; rdfs:label "RAD52" ; IAO:0000142 PMID:12191481, PMID:7774919 ; - oboInOwl:hasDbXref UMLS:C1419243 ; oboInOwl:hasExactSynonym "RAD52", "rad52 homolog, DNA repair protein", "rad52, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5893 ; - skos:exactMatch HGNC_symbol:RAD52 ; + skos:exactMatch UMLS:C1419243, + HGNC:9824, + HGNC_symbol:RAD52 ; biolink:category biolink:Gene . OMIM:600393 a owl:Class ; @@ -121023,13 +124179,14 @@ OMIM:600393 a owl:Class ; PMID:9008166, PMID:9171819, PMID:9778254 ; - oboInOwl:hasDbXref UMLS:C1414583 ; oboInOwl:hasExactSynonym "FEN1", "flap structure-specific endonuclease 1", "maturation factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2237 ; - skos:exactMatch HGNC_symbol:FEN1 ; + skos:exactMatch UMLS:C1414583, + HGNC:3650, + HGNC_symbol:FEN1 ; biolink:category biolink:Gene . OMIM:600394 a owl:Class ; @@ -121042,12 +124199,13 @@ OMIM:600395 a owl:Class ; PMID:18064304, PMID:26106858, PMID:7774946 ; - oboInOwl:hasDbXref UMLS:C1415193 ; oboInOwl:hasExactSynonym "GPC1", "glypican 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2817 ; - skos:exactMatch HGNC_symbol:GPC1 ; + skos:exactMatch UMLS:C1415193, + HGNC:4449, + HGNC_symbol:GPC1 ; biolink:category biolink:Gene . OMIM:600396 a owl:Class ; @@ -121055,7 +124213,6 @@ OMIM:600396 a owl:Class ; IAO:0000142 PMID:15616564, PMID:18367544, PMID:7935475 ; - oboInOwl:hasDbXref UMLS:C1413965 ; oboInOwl:hasExactSynonym "DHX8", "RNA helicase 1", "dead/h-box 8", @@ -121064,7 +124221,9 @@ OMIM:600396 a owl:Class ; "prp22, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1659 ; - skos:exactMatch HGNC_symbol:DHX8 ; + skos:exactMatch UMLS:C1413965, + HGNC:2749, + HGNC_symbol:DHX8 ; biolink:category biolink:Gene . OMIM:600397 a owl:Class ; @@ -121080,31 +124239,33 @@ OMIM:600397 a owl:Class ; PMID:8034307 ; RO:0002525 CHR:9606chr20q13.13 ; RO:0003303 OMIM:616056 ; - oboInOwl:hasDbXref UMLS:C1416554, - UMLS:C4015119 ; oboInOwl:hasExactSynonym "KCNB1", "kv2.1", "potassium channel, voltage-gated, shab-related subfamily, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3745 ; - skos:exactMatch HGNC_symbol:KCNB1 ; + skos:exactMatch UMLS:C1416554, + UMLS:C4015119, + HGNC:6231, + HGNC_symbol:KCNB1 ; biolink:category biolink:Gene . OMIM:600398 a owl:Class ; rdfs:label "ZNF160" ; IAO:0000142 PMID:7774943 ; - oboInOwl:hasDbXref UMLS:C1421650 ; oboInOwl:hasExactSynonym "ZNF160", "zinc finger protein 160" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90338 ; - skos:exactMatch HGNC_symbol:ZNF160 ; + skos:exactMatch UMLS:C1421650, + HGNC:12948, + HGNC_symbol:ZNF160 ; biolink:category biolink:Gene . OMIM:600399 a owl:Class ; rdfs:label "pectus excavatum, macrocephaly, short stature, and dysplastic nails" ; - oboInOwl:hasDbXref UMLS:C1838160 ; oboInOwl:hasExactSynonym "pectus excavatum, macrocephaly, short stature, and dysplastic nails" ; + skos:exactMatch UMLS:C1838160 ; biolink:category biolink:Disease . OMIM:600400 a owl:Class ; @@ -121113,13 +124274,14 @@ OMIM:600400 a owl:Class ; PMID:7959018, PMID:8893811, PMID:9695945 ; - oboInOwl:hasDbXref UMLS:C1418885 ; oboInOwl:hasExactSynonym "PREP", "prolyl endopeptidase", "prolyl oligopeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5550 ; - skos:exactMatch HGNC_symbol:PREP ; + skos:exactMatch UMLS:C1418885, + HGNC:9358, + HGNC_symbol:PREP ; biolink:category biolink:Gene . OMIM:600401 a owl:Class ; @@ -121137,14 +124299,15 @@ OMIM:600403 a owl:Class ; PMID:7911242, PMID:9065413, PMID:9247085 ; - oboInOwl:hasDbXref UMLS:C1366487 ; oboInOwl:hasExactSynonym "FAP", "fapa", "fibroblast activation protein, alpha", "seprase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2191 ; - skos:exactMatch HGNC_symbol:FAP ; + skos:exactMatch UMLS:C1366487, + HGNC:3590, + HGNC_symbol:FAP ; biolink:category biolink:Gene . OMIM:600404 a owl:Class ; @@ -121157,28 +124320,30 @@ OMIM:600404 a owl:Class ; PMID:19907496, PMID:7774928, PMID:8651315 ; - oboInOwl:hasDbXref UMLS:C1419349 ; oboInOwl:hasExactSynonym "RFC2", "replication factor c, subunit 2", "rfc, 40-kd subunit", "rfc4, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5982 ; - skos:exactMatch HGNC_symbol:RFC2 ; + skos:exactMatch UMLS:C1419349, + HGNC:9970, + HGNC_symbol:RFC2 ; biolink:category biolink:Gene . OMIM:600405 a owl:Class ; rdfs:label "RFC3" ; IAO:0000142 PMID:15201901, PMID:7774928 ; - oboInOwl:hasDbXref UMLS:C1419350 ; oboInOwl:hasExactSynonym "RFC3", "replication factor c, subunit 3", "rfc, 38-kd subunit", "rfc5, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5983 ; - skos:exactMatch HGNC_symbol:RFC3 ; + skos:exactMatch UMLS:C1419350, + HGNC:9971, + HGNC_symbol:RFC3 ; biolink:category biolink:Gene . OMIM:600406 a owl:Class ; @@ -121188,14 +124353,15 @@ OMIM:600406 a owl:Class ; OMIM:600407 a owl:Class ; rdfs:label "RFC5" ; IAO:0000142 PMID:7774928 ; - oboInOwl:hasDbXref UMLS:C1419352 ; oboInOwl:hasExactSynonym "RFC5", "replication factor c, subunit 5", "rfc, 36.5-kd subunit", "rfc3, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5985 ; - skos:exactMatch HGNC_symbol:RFC5 ; + skos:exactMatch UMLS:C1419352, + HGNC:9973, + HGNC_symbol:RFC5 ; biolink:category biolink:Gene . OMIM:600409 a owl:Class ; @@ -121225,7 +124391,6 @@ OMIM:600409 a owl:Class ; PMID:8056148, PMID:8554552, PMID:8812511 ; - oboInOwl:hasDbXref UMLS:C1418778 ; oboInOwl:hasExactSynonym "PPARD", "nuci gene", "nuclear hormone receptor 1", @@ -121233,7 +124398,9 @@ OMIM:600409 a owl:Class ; "ppar-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5467 ; - skos:exactMatch HGNC_symbol:PPARD ; + skos:exactMatch UMLS:C1418778, + HGNC:9235, + HGNC_symbol:PPARD ; biolink:category biolink:Gene . OMIM:600410 a owl:Class ; @@ -121245,13 +124412,14 @@ OMIM:600410 a owl:Class ; PMID:30174180, PMID:7935377, PMID:8454591 ; - oboInOwl:hasDbXref UMLS:C1420801 ; oboInOwl:hasExactSynonym "TNFAIP6", "tumor necrosis factor-alpha-induced protein 6", "tumor necrosis factor-stimulated gene 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7130 ; - skos:exactMatch HGNC_symbol:TNFAIP6 ; + skos:exactMatch UMLS:C1420801, + HGNC:11898, + HGNC_symbol:TNFAIP6 ; biolink:category biolink:Gene . OMIM:600411 a owl:Class ; @@ -121265,12 +124433,13 @@ OMIM:600411 a owl:Class ; PMID:29144452, PMID:3927587, PMID:7518790 ; - oboInOwl:hasDbXref UMLS:C1415003 ; oboInOwl:hasExactSynonym "GBP1", "guanylate-binding protein 1, interferon-inducible, 67-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2633 ; - skos:exactMatch HGNC_symbol:GBP1 ; + skos:exactMatch UMLS:C1415003, + HGNC:4182, + HGNC_symbol:GBP1 ; biolink:category biolink:Gene . OMIM:600412 a owl:Class ; @@ -121280,13 +124449,14 @@ OMIM:600412 a owl:Class ; PMID:1715024, PMID:17266443, PMID:21551061 ; - oboInOwl:hasDbXref UMLS:C1415004 ; oboInOwl:hasExactSynonym "GBP2", "guanylate-binding protein 1, mouse, homolog of", "guanylate-binding protein 2, interferon-inducible" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2634 ; - skos:exactMatch HGNC_symbol:GBP2 ; + skos:exactMatch UMLS:C1415004, + HGNC:4183, + HGNC_symbol:GBP2 ; biolink:category biolink:Gene . OMIM:600413 a owl:Class ; @@ -121294,12 +124464,13 @@ OMIM:600413 a owl:Class ; IAO:0000142 PMID:16689661, PMID:17266443, PMID:7518790 ; - oboInOwl:hasDbXref UMLS:C1415005 ; oboInOwl:hasExactSynonym "GBP3", "guanylate-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2635 ; - skos:exactMatch HGNC_symbol:GBP3 ; + skos:exactMatch UMLS:C1415005, + HGNC:4184, + HGNC_symbol:GBP3 ; biolink:category biolink:Gene . OMIM:600414 a owl:Class ; @@ -121318,7 +124489,6 @@ OMIM:600414 a owl:Class ; PMID:9668159 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:616716 ; - oboInOwl:hasDbXref UMLS:C1419151 ; oboInOwl:hasExactSynonym "PEX5", "peroxin 5", "peroxisome biogenesis factor 5", @@ -121326,7 +124496,9 @@ OMIM:600414 a owl:Class ; "pts1 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5830 ; - skos:exactMatch HGNC_symbol:PEX5 ; + skos:exactMatch UMLS:C1419151, + HGNC:9719, + HGNC_symbol:PEX5 ; biolink:category biolink:Gene . OMIM:600415 a owl:Class ; @@ -121345,7 +124517,6 @@ OMIM:600415 a owl:Class ; PMID:9931538 ; RO:0002525 CHR:9606chr8q12.3 ; RO:0003303 OMIM:277460 ; - oboInOwl:hasDbXref UMLS:C1421223 ; oboInOwl:hasExactSynonym "TTPA", "alpha-tocopherol transfer protein", "alpha-ttp", @@ -121353,15 +124524,17 @@ OMIM:600415 a owl:Class ; "ttp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7274 ; - skos:exactMatch HGNC_symbol:TTPA ; + skos:exactMatch UMLS:C1421223, + HGNC:12404, + HGNC_symbol:TTPA ; biolink:category biolink:Gene . OMIM:600416 a owl:Class ; rdfs:label "muscular dystrophy, scapulohumeral" ; IAO:0000142 PMID:1941962, PMID:7881292 ; - oboInOwl:hasDbXref UMLS:C0410192 ; - oboInOwl:hasExactSynonym "muscular dystrophy, scapulohumeral" . + oboInOwl:hasExactSynonym "muscular dystrophy, scapulohumeral" ; + skos:exactMatch UMLS:C0410192 . OMIM:600417 a owl:Class ; rdfs:label "NT5C2" ; @@ -121372,8 +124545,6 @@ OMIM:600417 a owl:Class ; PMID:7999131 ; RO:0002525 CHR:9606chr10q24.32-q24.33 ; RO:0003303 OMIM:613162 ; - oboInOwl:hasDbXref UMLS:C1417862, - UMLS:C4016664 ; oboInOwl:hasExactSynonym "5-prime-nucleotidase, cytosolic 2", "NT5C2", "nucleotidase, 5-prime, iia B", @@ -121381,7 +124552,10 @@ OMIM:600417 a owl:Class ; "purine 5-prime-nucleotidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22978 ; - skos:exactMatch HGNC_symbol:NT5C2 ; + skos:exactMatch UMLS:C1417862, + UMLS:C4016664, + HGNC:8022, + HGNC_symbol:NT5C2 ; biolink:category biolink:Gene . OMIM:600418 a owl:Class ; @@ -121395,20 +124569,21 @@ OMIM:600418 a owl:Class ; PMID:8076697, PMID:8245793, PMID:8530056 ; - oboInOwl:hasDbXref UMLS:C1332086 ; oboInOwl:hasExactSynonym "AMPH", "amphiphysin", "amphiphysin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:273 ; - skos:exactMatch HGNC_symbol:AMPH ; + skos:exactMatch UMLS:C1332086, + HGNC:471, + HGNC_symbol:AMPH ; biolink:category biolink:Gene . OMIM:600419 a owl:Class ; rdfs:label "angiokeratoma corporis diffusum with arteriovenous fistulas" ; IAO:0000142 PMID:7826098 ; - oboInOwl:hasDbXref UMLS:C1838141 ; - oboInOwl:hasExactSynonym "angiokeratoma corporis diffusum with arteriovenous fistulas" . + oboInOwl:hasExactSynonym "angiokeratoma corporis diffusum with arteriovenous fistulas" ; + skos:exactMatch UMLS:C1838141 . OMIM:600420 a owl:Class ; IAO:0100001 OMIM:300039 ; @@ -121421,19 +124596,19 @@ OMIM:600421 a owl:Class ; PMID:2176214, PMID:7894176, PMID:9677400 ; - oboInOwl:hasDbXref UMLS:C1415109 ; oboInOwl:hasExactSynonym "GLRA3", "glycine receptor, alpha-3 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8001 ; - skos:exactMatch HGNC_symbol:GLRA3 ; + skos:exactMatch UMLS:C1415109, + HGNC:4328, + HGNC_symbol:GLRA3 ; biolink:category biolink:Gene . OMIM:600422 a owl:Class ; rdfs:label "FABP6" ; IAO:0000142 PMID:7619861, PMID:7894165 ; - oboInOwl:hasDbXref UMLS:C1414515 ; oboInOwl:hasExactSynonym "FABP6", "fatty acid-binding protein 6", "fatty acid-binding protein, ileal", @@ -121442,7 +124617,9 @@ OMIM:600422 a owl:Class ; "intestinal bile acid-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2172 ; - skos:exactMatch HGNC_symbol:FABP6 ; + skos:exactMatch UMLS:C1414515, + HGNC:3561, + HGNC_symbol:FABP6 ; biolink:category biolink:Gene . OMIM:600423 a owl:Class ; @@ -121466,13 +124643,14 @@ OMIM:600423 a owl:Class ; PMID:9915973 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1414244 ; oboInOwl:hasExactSynonym "ECE1", "ece", "endothelin-converting enzyme 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1889 ; - skos:exactMatch HGNC_symbol:ECE1 ; + skos:exactMatch UMLS:C1414244, + HGNC:3146, + HGNC_symbol:ECE1 ; biolink:category biolink:Gene . OMIM:600424 a owl:Class ; @@ -121489,7 +124667,6 @@ OMIM:600424 a owl:Class ; PMID:9748272 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:601775 ; - oboInOwl:hasDbXref UMLS:C1420117 ; oboInOwl:hasExactSynonym "SLC19A1", "folate transporter", "intestinal folate carrier 1", @@ -121497,7 +124674,9 @@ OMIM:600424 a owl:Class ; "solute carrier family 19 (folate transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6573 ; - skos:exactMatch HGNC_symbol:SLC19A1 ; + skos:exactMatch UMLS:C1420117, + HGNC:10937, + HGNC_symbol:SLC19A1 ; biolink:category biolink:Gene . OMIM:600425 a owl:Class ; @@ -121514,12 +124693,13 @@ OMIM:600426 a owl:Class ; PMID:20016602, PMID:8246995, PMID:8246996 ; - oboInOwl:hasDbXref UMLS:C1414223 ; oboInOwl:hasExactSynonym "E2F2", "e2f transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1870 ; - skos:exactMatch HGNC_symbol:E2F2 ; + skos:exactMatch UMLS:C1414223, + HGNC:3114, + HGNC_symbol:E2F2 ; biolink:category biolink:Gene . OMIM:600427 a owl:Class ; @@ -121533,12 +124713,13 @@ OMIM:600427 a owl:Class ; PMID:20016601, PMID:20016602, PMID:8246996 ; - oboInOwl:hasDbXref UMLS:C1414224 ; oboInOwl:hasExactSynonym "E2F3", "e2f transcription factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1871 ; - skos:exactMatch HGNC_symbol:E2F3 ; + skos:exactMatch UMLS:C1414224, + HGNC:3115, + HGNC_symbol:E2F3 ; biolink:category biolink:Gene . OMIM:600428 a owl:Class ; @@ -121547,13 +124728,15 @@ OMIM:600428 a owl:Class ; PMID:10760587, PMID:10938113, PMID:7762982 ; - oboInOwl:hasDbXref UMLS:C0812239 ; oboInOwl:hasExactSynonym "VAV2", "oncogene vav2", + "vav guanine nucleotide exchange factor 2", "vav2 oncogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7410 ; - skos:exactMatch HGNC_symbol:VAV2 ; + skos:exactMatch UMLS:C0812239, + HGNC:12658, + HGNC_symbol:VAV2 ; biolink:category biolink:Gene . OMIM:600429 a owl:Class ; @@ -121569,7 +124752,6 @@ OMIM:600429 a owl:Class ; PMID:9988682 ; RO:0002525 CHR:9606chr6p24.3-p24.2 ; RO:0003303 OMIM:110800 ; - oboInOwl:hasDbXref UMLS:C1415022 ; oboInOwl:hasExactSynonym "GCNT2", "beta-1,6-n-acetylglucosaminyltransferase 2", "developmental 1 antigen", @@ -121577,7 +124759,9 @@ OMIM:600429 a owl:Class ; "i-beta-1,6-n-acetylglucosaminyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2651 ; - skos:exactMatch HGNC_symbol:GCNT2 ; + skos:exactMatch UMLS:C1415022, + HGNC:4204, + HGNC_symbol:GCNT2 ; biolink:category biolink:Gene . OMIM:600430 a owl:Class ; @@ -121596,10 +124780,10 @@ OMIM:600430 a owl:Class ; PMID:7847374, PMID:870942 ; RO:0002525 CHR:9606chr2q37 ; - oboInOwl:hasDbXref UMLS:C2931817 ; oboInOwl:hasExactSynonym "albright hereditary osteodystrophy-like syndrome", "brachydactyly-mental retardation syndrome", "chromosome 2q37 deletion syndrome" ; + skos:exactMatch UMLS:C2931817 ; biolink:category biolink:Disease . OMIM:600431 a owl:Class ; @@ -121620,7 +124804,6 @@ OMIM:600431 a owl:Class ; PMID:8078588, PMID:8152487, PMID:8153634 ; - oboInOwl:hasDbXref UMLS:C0809183 ; oboInOwl:hasExactSynonym "CDKN2B", "cdk4b inhibitor", "cyclin-dependent kinase inhibitor 2b", @@ -121630,7 +124813,9 @@ OMIM:600431 a owl:Class ; "tp15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1030 ; - skos:exactMatch HGNC_symbol:CDKN2B ; + skos:exactMatch UMLS:C0809183, + HGNC:1788, + HGNC_symbol:CDKN2B ; biolink:category biolink:Gene . OMIM:600432 a owl:Class ; @@ -121642,7 +124827,6 @@ OMIM:600432 a owl:Class ; PMID:22220752, PMID:28297715, PMID:7877445 ; - oboInOwl:hasDbXref UMLS:C1413151 ; oboInOwl:hasExactSynonym "CBLN1", "cerebellin", "cerebellin precursor", @@ -121650,7 +124834,9 @@ OMIM:600432 a owl:Class ; "precerebellin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:869 ; - skos:exactMatch HGNC_symbol:CBLN1 ; + skos:exactMatch UMLS:C1413151, + HGNC:1543, + HGNC_symbol:CBLN1 ; biolink:category biolink:Gene . OMIM:600433 a owl:Class ; @@ -121659,12 +124845,13 @@ OMIM:600433 a owl:Class ; PMID:22220752, PMID:23502781, PMID:7877445 ; - oboInOwl:hasDbXref UMLS:C1413152 ; oboInOwl:hasExactSynonym "CBLN2", "precerebellin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147381 ; - skos:exactMatch HGNC_symbol:CBLN2 ; + skos:exactMatch UMLS:C1413152, + HGNC:1544, + HGNC_symbol:CBLN2 ; biolink:category biolink:Gene . OMIM:600434 a owl:Class ; @@ -121677,14 +124864,15 @@ OMIM:600434 a owl:Class ; PMID:28219080, PMID:8910278, PMID:9070949 ; - oboInOwl:hasDbXref UMLS:C1333527 ; oboInOwl:hasExactSynonym "FABP4", "adipocyte protein ap2", "fatty acid-binding protein 4", "fatty acid-binding protein, adipocyte" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2167 ; - skos:exactMatch HGNC_symbol:FABP4 ; + skos:exactMatch UMLS:C1333527, + HGNC:3559, + HGNC_symbol:FABP4 ; biolink:category biolink:Gene . OMIM:600435 a owl:Class ; @@ -121696,13 +124884,14 @@ OMIM:600435 a owl:Class ; PMID:7862649, PMID:8755479, PMID:8833032 ; - oboInOwl:hasDbXref UMLS:C1332801 ; oboInOwl:hasExactSynonym "CTF1", "cardiotrophin 1", "ct1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1489 ; - skos:exactMatch HGNC_symbol:CTF1 ; + skos:exactMatch UMLS:C1332801, + HGNC:2499, + HGNC_symbol:CTF1 ; biolink:category biolink:Gene . OMIM:600436 a owl:Class ; @@ -121717,23 +124906,25 @@ OMIM:600436 a owl:Class ; PMID:8569364, PMID:8617495, PMID:9156696 ; - oboInOwl:hasDbXref UMLS:C1333715 ; oboInOwl:hasExactSynonym "GSTT1", "glutathione s-transferase, theta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2952 ; - skos:exactMatch HGNC_symbol:GSTT1 ; + skos:exactMatch UMLS:C1333715, + HGNC:4641, + HGNC_symbol:GSTT1 ; biolink:category biolink:Gene . OMIM:600437 a owl:Class ; rdfs:label "GSTT2" ; IAO:0000142 PMID:7789971 ; - oboInOwl:hasDbXref UMLS:C1415340 ; oboInOwl:hasExactSynonym "GSTT2", "glutathione s-transferase, theta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2953 ; - skos:exactMatch HGNC_symbol:GSTT2 ; + skos:exactMatch UMLS:C1415340, + HGNC:4642, + HGNC_symbol:GSTT2 ; biolink:category biolink:Gene . OMIM:600439 a owl:Class ; @@ -121746,9 +124937,6 @@ OMIM:600439 a owl:Class ; PMID:7789991 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:165510 ; - oboInOwl:hasDbXref UMLS:C1420424, - UMLS:C2986382, - UMLS:C5435585 ; oboInOwl:hasExactSynonym "SSBP1", "sensor of single-stranded DNA complex, subunit b1", "single-stranded dna-binding protein 1", @@ -121756,7 +124944,11 @@ OMIM:600439 a owl:Class ; "ssbp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6742 ; - skos:exactMatch HGNC_symbol:SSBP1 ; + skos:exactMatch UMLS:C1420424, + UMLS:C2986382, + UMLS:C5435585, + HGNC:11317, + HGNC_symbol:SSBP1 ; biolink:category biolink:Gene . OMIM:600440 a owl:Class ; @@ -121767,12 +124959,13 @@ OMIM:600440 a owl:Class ; PMID:16754849, PMID:21979051, PMID:7789991 ; - oboInOwl:hasDbXref UMLS:C1414399 ; oboInOwl:hasExactSynonym "ENDOG", "endonuclease g, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2021 ; - skos:exactMatch HGNC_symbol:ENDOG ; + skos:exactMatch UMLS:C1414399, + HGNC:3346, + HGNC_symbol:ENDOG ; biolink:category biolink:Gene . OMIM:600441 a owl:Class ; @@ -121788,14 +124981,15 @@ OMIM:600441 a owl:Class ; PMID:7867073, PMID:8336730, PMID:8595896 ; - oboInOwl:hasDbXref UMLS:C1414991 ; oboInOwl:hasExactSynonym "GAS6", "axl receptor tyrosine kinase ligand", "axl stimulatory factor", "growth arrest-specific 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2621 ; - skos:exactMatch HGNC_symbol:GAS6 ; + skos:exactMatch UMLS:C1414991, + HGNC:4168, + HGNC_symbol:GAS6 ; biolink:category biolink:Gene . OMIM:600442 a owl:Class ; @@ -121813,13 +125007,14 @@ OMIM:600442 a owl:Class ; PMID:8621489 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:600231 ; - oboInOwl:hasDbXref UMLS:C1412495, - UMLS:C1838359 ; oboInOwl:hasExactSynonym "AQP5", "aquaporin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:362 ; - skos:exactMatch HGNC_symbol:AQP5 ; + skos:exactMatch UMLS:C1412495, + UMLS:C1838359, + HGNC:638, + HGNC_symbol:AQP5 ; biolink:category biolink:Gene . OMIM:600443 a owl:Class ; @@ -121827,14 +125022,15 @@ OMIM:600443 a owl:Class ; IAO:0000142 PMID:11274078, PMID:7851394, PMID:8838810 ; - oboInOwl:hasDbXref UMLS:C1415111 ; oboInOwl:hasExactSynonym "GLRX", "glutaredoxin", "grx", "thioltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2745 ; - skos:exactMatch HGNC_symbol:GLRX ; + skos:exactMatch UMLS:C1415111, + HGNC:4330, + HGNC_symbol:GLRX ; biolink:category biolink:Gene . OMIM:600444 a owl:Class ; @@ -121844,14 +125040,15 @@ OMIM:600444 a owl:Class ; PMID:16644257, PMID:7789985, PMID:8646889 ; - oboInOwl:hasDbXref UMLS:C1420202 ; oboInOwl:hasExactSynonym "SLC5A3", "smit", "sodium/myoinositol cotransporter", "solute carrier family 5 (inositol transporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6526 ; - skos:exactMatch HGNC_symbol:SLC5A3 ; + skos:exactMatch UMLS:C1420202, + HGNC:11038, + HGNC_symbol:SLC5A3 ; biolink:category biolink:Gene . OMIM:600445 a owl:Class ; @@ -121866,13 +125063,14 @@ OMIM:600445 a owl:Class ; PMID:8595892, PMID:8617363, PMID:9618527 ; - oboInOwl:hasDbXref UMLS:C1412251 ; oboInOwl:hasExactSynonym "ADORA3", "a3 adenosine receptor", "adenosine a3 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140 ; - skos:exactMatch HGNC_symbol:ADORA3 ; + skos:exactMatch UMLS:C1412251, + HGNC:268, + HGNC_symbol:ADORA3 ; biolink:category biolink:Gene . OMIM:600447 a owl:Class ; @@ -121883,7 +125081,6 @@ OMIM:600447 a owl:Class ; PMID:8037767, PMID:8637721, PMID:8663324 ; - oboInOwl:hasDbXref UMLS:C1417011 ; oboInOwl:hasExactSynonym "MAP3K12", "dual leucine zipper kinase", "mitogen-activated protein kinase kinase kinase 12", @@ -121891,7 +125088,9 @@ OMIM:600447 a owl:Class ; "zipper protein kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7786 ; - skos:exactMatch HGNC_symbol:MAP3K12 ; + skos:exactMatch UMLS:C1417011, + HGNC:6851, + HGNC_symbol:MAP3K12 ; biolink:category biolink:Gene . OMIM:600448 a owl:Class ; @@ -121904,12 +125103,13 @@ OMIM:600448 a owl:Class ; PMID:7790001, PMID:8444877, PMID:9021158 ; - oboInOwl:hasDbXref UMLS:C1418926 ; oboInOwl:hasExactSynonym "PRKCQ", "protein kinase c, theta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5588 ; - skos:exactMatch HGNC_symbol:PRKCQ ; + skos:exactMatch UMLS:C1418926, + HGNC:9410, + HGNC_symbol:PRKCQ ; biolink:category biolink:Gene . OMIM:600449 a owl:Class ; @@ -121921,14 +125121,15 @@ OMIM:600449 a owl:Class ; PMID:8274401, PMID:8486699, PMID:8573067 ; - oboInOwl:hasDbXref UMLS:C1412324 ; oboInOwl:hasExactSynonym "AKR1C1", "aldo-keto reductase c", "aldo-keto reductase family 1, member 1", "dihydrodiol dehydrogenase, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1645 ; - skos:exactMatch HGNC_symbol:AKR1C1 ; + skos:exactMatch UMLS:C1412324, + HGNC:384, + HGNC_symbol:AKR1C1 ; biolink:category biolink:Gene . OMIM:600450 a owl:Class ; @@ -121949,7 +125150,6 @@ OMIM:600450 a owl:Class ; PMID:9716498 ; RO:0002525 CHR:9606chr10p15.1 ; RO:0003303 OMIM:614279 ; - oboInOwl:hasDbXref UMLS:C1412325 ; oboInOwl:hasExactSynonym "3-alpha-hydroxysteroid dehydrogenase, iia 3", "AKR1C2", "aldo-keto reductase d", @@ -121957,7 +125157,9 @@ OMIM:600450 a owl:Class ; "dihydrodiol dehydrogenase, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1646 ; - skos:exactMatch HGNC_symbol:AKR1C2 ; + skos:exactMatch UMLS:C1412325, + HGNC:385, + HGNC_symbol:AKR1C2 ; biolink:category biolink:Gene . OMIM:600451 a owl:Class ; @@ -121974,7 +125176,6 @@ OMIM:600451 a owl:Class ; PMID:8573067 ; RO:0002525 CHR:9606chr10p15.1 ; RO:0003303 OMIM:614279 ; - oboInOwl:hasDbXref UMLS:C1412327 ; oboInOwl:hasExactSynonym "3-alpha-hydroxysteroid dehydrogenase, iia 1", "AKR1C4", "aldo-keto reductase a", @@ -121983,7 +125184,9 @@ OMIM:600451 a owl:Class ; "dihydrodiol dehydrogenase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1109 ; - skos:exactMatch HGNC_symbol:AKR1C4 ; + skos:exactMatch UMLS:C1412327, + HGNC:387, + HGNC_symbol:AKR1C4 ; biolink:category biolink:Gene . OMIM:600452 a owl:Class ; @@ -121999,14 +125202,15 @@ OMIM:600453 a owl:Class ; PMID:7789997, PMID:8248217, PMID:8530055 ; - oboInOwl:hasDbXref UMLS:C1421638 ; oboInOwl:hasExactSynonym "TRIM25", "estrogen-responsive finger protein", "tripartite motif-containing protein 25", "zinc finger protein 147" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7706 ; - skos:exactMatch HGNC_symbol:TRIM25 ; + skos:exactMatch UMLS:C1421638, + HGNC:12932, + HGNC_symbol:TRIM25 ; biolink:category biolink:Gene . OMIM:600454 a owl:Class ; @@ -122016,25 +125220,27 @@ OMIM:600454 a owl:Class ; PMID:7789996, PMID:8319909, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1335643 ; oboInOwl:hasExactSynonym "RPS3", "ribosomal protein s3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6188 ; - skos:exactMatch HGNC_symbol:RPS3 ; + skos:exactMatch UMLS:C1335643, + HGNC:10420, + HGNC_symbol:RPS3 ; biolink:category biolink:Gene . OMIM:600455 a owl:Class ; rdfs:label "RNU15A" ; IAO:0000142 PMID:7789996, PMID:8319909 ; - oboInOwl:hasDbXref UMLS:C1419461 ; oboInOwl:hasExactSynonym "RNU15A", "rna, u15a small nucleolar", "snorna, u15a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6079 ; - skos:exactMatch HGNC_symbol:SNORD15A ; + skos:exactMatch UMLS:C1419461, + HGNC:10114, + HGNC_symbol:SNORD15A ; biolink:category biolink:Gene . OMIM:600456 a owl:Class ; @@ -122069,36 +125275,37 @@ OMIM:600456 a owl:Class ; PMID:9195161 ; RO:0002525 CHR:9606chr9q21.33 ; RO:0003303 OMIM:613886 ; - oboInOwl:hasDbXref UMLS:C1334909, - UMLS:C3151303, - UMLS:C4693367 ; oboInOwl:hasExactSynonym "NTRK2", "neurotrophic tyrosine kinase, receptor, iia 2", "tyrosine kinase receptor B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4915 ; - skos:exactMatch HGNC_symbol:NTRK2 ; + skos:exactMatch UMLS:C1334909, + UMLS:C3151303, + UMLS:C4693367, + HGNC:8032, + HGNC_symbol:NTRK2 ; biolink:category biolink:Gene . OMIM:600457 a owl:Class ; rdfs:label "hypertrichosis, anterior cervical" ; IAO:0000142 PMID:1342865, PMID:7762594 ; - oboInOwl:hasDbXref UMLS:C1838123 ; - oboInOwl:hasExactSynonym "hypertrichosis, anterior cervical" . + oboInOwl:hasExactSynonym "hypertrichosis, anterior cervical" ; + skos:exactMatch UMLS:C1838123 . OMIM:600458 a owl:Class ; rdfs:label "adenomyosis" ; IAO:0000142 PMID:13890115, PMID:7762596 ; - oboInOwl:hasDbXref UMLS:C0341858 ; - oboInOwl:hasExactSynonym "adenomyosis" . + oboInOwl:hasExactSynonym "adenomyosis" ; + skos:exactMatch UMLS:C0341858 . OMIM:600459 a owl:Class ; rdfs:label "arterial dissection with lentiginosis" ; IAO:0000142 PMID:7838191 ; - oboInOwl:hasDbXref UMLS:C1838122 ; - oboInOwl:hasExactSynonym "arterial dissection with lentiginosis" . + oboInOwl:hasExactSynonym "arterial dissection with lentiginosis" ; + skos:exactMatch UMLS:C1838122 . OMIM:600460 a owl:Class ; rdfs:label "cleft palate, cardiac defect, genital anomalies, and ectrodactyly" ; @@ -122106,16 +125313,16 @@ OMIM:600460 a owl:Class ; PMID:15937946, PMID:19606477, PMID:7897634 ; - oboInOwl:hasDbXref UMLS:C1838121 ; oboInOwl:hasExactSynonym "acrocardiofacial syndrome", "ccge", - "cleft palate, cardiac defect, genital anomalies, and ectrodactyly" . + "cleft palate, cardiac defect, genital anomalies, and ectrodactyly" ; + skos:exactMatch UMLS:C1838121 . OMIM:600461 a owl:Class ; rdfs:label "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" ; IAO:0000142 PMID:7726230 ; - oboInOwl:hasDbXref UMLS:C1838120 ; - oboInOwl:hasExactSynonym "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" . + oboInOwl:hasExactSynonym "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" ; + skos:exactMatch UMLS:C1838120 . OMIM:600463 a owl:Class ; rdfs:label "ALDH1A3" ; @@ -122125,7 +125332,6 @@ OMIM:600463 a owl:Class ; PMID:7698756 ; RO:0002525 CHR:9606chr15q26.3 ; RO:0003303 OMIM:615113 ; - oboInOwl:hasDbXref UMLS:C1412340 ; oboInOwl:hasExactSynonym "ALDH1A3", "acetaldehyde dehydrogenase 6", "aldehyde dehydrogenase 1 family, member a3", @@ -122133,7 +125339,9 @@ OMIM:600463 a owl:Class ; "retinaldehyde dehydrogenase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220 ; - skos:exactMatch HGNC_symbol:ALDH1A3 ; + skos:exactMatch UMLS:C1412340, + HGNC:409, + HGNC_symbol:ALDH1A3 ; biolink:category biolink:Gene . OMIM:600464 a owl:Class ; @@ -122146,12 +125354,13 @@ OMIM:600464 a owl:Class ; PMID:25326380, PMID:7855600, PMID:8702973 ; - oboInOwl:hasDbXref UMLS:C1412511 ; oboInOwl:hasExactSynonym "ARF6", "adp-ribosylation factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:382 ; - skos:exactMatch HGNC_symbol:ARF6 ; + skos:exactMatch UMLS:C1412511, + HGNC:659, + HGNC_symbol:ARF6 ; biolink:category biolink:Gene . OMIM:600465 a owl:Class ; @@ -122170,29 +125379,31 @@ OMIM:600465 a owl:Class ; PMID:8947556 ; RO:0002525 CHR:9606chr10q21.2 ; RO:0003303 OMIM:615493 ; - oboInOwl:hasDbXref UMLS:C1412404, - UMLS:C2986382, - UMLS:C3809672 ; oboInOwl:hasExactSynonym "ANK3", "ankyrin 3", "ankyrin-g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:288 ; - skos:exactMatch HGNC_symbol:ANK3 ; + skos:exactMatch UMLS:C1412404, + UMLS:C2986382, + UMLS:C3809672, + HGNC:494, + HGNC_symbol:ANK3 ; biolink:category biolink:Gene . OMIM:600466 a owl:Class ; rdfs:label "ALDH3B1" ; IAO:0000142 PMID:7828891, PMID:9161417 ; - oboInOwl:hasDbXref UMLS:C1412341 ; oboInOwl:hasExactSynonym "ALDH3B1", "acetaldehyde dehydrogenase 7", "aldehyde dehydrogenase 3 family, member b1", "aldehyde dehydrogenase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221 ; - skos:exactMatch HGNC_symbol:ALDH3B1 ; + skos:exactMatch UMLS:C1412341, + HGNC:410, + HGNC_symbol:ALDH3B1 ; biolink:category biolink:Gene . OMIM:600468 a owl:Class ; @@ -122206,7 +125417,6 @@ OMIM:600469 a owl:Class ; PMID:7937105, PMID:8069914, PMID:8812508 ; - oboInOwl:hasDbXref UMLS:C1417606 ; oboInOwl:hasExactSynonym "NCBP1", "cbp80", "ncbp", @@ -122214,7 +125424,9 @@ OMIM:600469 a owl:Class ; "nuclear cap-binding protein, 80-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4686 ; - skos:exactMatch HGNC_symbol:NCBP1 ; + skos:exactMatch UMLS:C1417606, + HGNC:7658, + HGNC_symbol:NCBP1 ; biolink:category biolink:Gene . OMIM:600470 a owl:Class ; @@ -122227,16 +125439,17 @@ OMIM:600470 a owl:Class ; PMID:8542595 ; RO:0002525 CHR:9606chr3q24 ; RO:0003303 OMIM:618736 ; - oboInOwl:hasDbXref UMLS:C1421581, - UMLS:C4225269, - UMLS:C5231485 ; oboInOwl:hasExactSynonym "ZIC1", "zic", "zic family, member 1", "zinc finger protein of cerebellum 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7545 ; - skos:exactMatch HGNC_symbol:ZIC1 ; + skos:exactMatch UMLS:C1421581, + UMLS:C4225269, + UMLS:C5231485, + HGNC:12872, + HGNC_symbol:ZIC1 ; biolink:category biolink:Gene . OMIM:600471 a owl:Class ; @@ -122246,14 +125459,15 @@ OMIM:600471 a owl:Class ; PMID:8417977, PMID:8626737, PMID:8808285 ; - oboInOwl:hasDbXref UMLS:C1413977 ; oboInOwl:hasExactSynonym "DEFA6", "defensin 6", "defensin, alpha, 6", "hd6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1671 ; - skos:exactMatch HGNC_symbol:DEFA6 ; + skos:exactMatch UMLS:C1413977, + HGNC:2765, + HGNC_symbol:DEFA6 ; biolink:category biolink:Gene . OMIM:600472 a owl:Class ; @@ -122266,14 +125480,15 @@ OMIM:600472 a owl:Class ; PMID:8808285, PMID:9169779, PMID:9588893 ; - oboInOwl:hasDbXref UMLS:C1413976 ; oboInOwl:hasExactSynonym "DEFA5", "defensin 5", "defensin, alpha, 5", "hd5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1670 ; - skos:exactMatch HGNC_symbol:DEFA5 ; + skos:exactMatch UMLS:C1413976, + HGNC:2764, + HGNC_symbol:DEFA5 ; biolink:category biolink:Gene . OMIM:600473 a owl:Class ; @@ -122292,13 +125507,14 @@ OMIM:600473 a owl:Class ; PMID:9334258 ; RO:0002525 CHR:9606chr5q31.3 ; RO:0003303 OMIM:616158 ; - oboInOwl:hasDbXref UMLS:C1335290 ; oboInOwl:hasExactSynonym "PURA", "pur-alpha", "purine-rich element-binding protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5813 ; - skos:exactMatch HGNC_symbol:PURA ; + skos:exactMatch UMLS:C1335290, + HGNC:9701, + HGNC_symbol:PURA ; biolink:category biolink:Gene . OMIM:600474 a owl:Class ; @@ -122324,7 +125540,6 @@ OMIM:600474 a owl:Class ; PMID:8946956, PMID:9182550, PMID:9573062 ; - oboInOwl:hasDbXref UMLS:C1413106 ; oboInOwl:hasExactSynonym "CAMP", "cathelicidin antimicrobial peptide", "cationic antimicrobial protein, 18-kd", @@ -122333,7 +125548,9 @@ OMIM:600474 a owl:Class ; "peptide antibiotic, pr-39, porcine, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:820 ; - skos:exactMatch HGNC_symbol:CAMP ; + skos:exactMatch UMLS:C1413106, + HGNC:1472, + HGNC_symbol:CAMP ; biolink:category biolink:Gene . OMIM:600475 a owl:Class ; @@ -122344,7 +125561,6 @@ OMIM:600475 a owl:Class ; PMID:7923369, PMID:8530084, PMID:9154123 ; - oboInOwl:hasDbXref UMLS:C1336560 ; oboInOwl:hasExactSynonym "TAF10", "taf10 RNA polymerase ii, tata box-binding protein-associated factor, 30-kd", "taf2a, formerly", @@ -122352,7 +125568,9 @@ OMIM:600475 a owl:Class ; "tbp-associated factor, RNA polymerase ii, 30-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6881 ; - skos:exactMatch HGNC_symbol:TAF10 ; + skos:exactMatch UMLS:C1336560, + HGNC:11543, + HGNC_symbol:TAF10 ; biolink:category biolink:Gene . OMIM:600476 a owl:Class ; @@ -122362,13 +125580,14 @@ OMIM:600476 a owl:Class ; OMIM:600477 a owl:Class ; rdfs:label "SLC9A5" ; IAO:0000142 PMID:7759094 ; - oboInOwl:hasDbXref UMLS:C1420239 ; oboInOwl:hasExactSynonym "SLC9A5", "sodium/hydrogen exchanger 5", "solute carrier family 9, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6553 ; - skos:exactMatch HGNC_symbol:SLC9A5 ; + skos:exactMatch UMLS:C1420239, + HGNC:11078, + HGNC_symbol:SLC9A5 ; biolink:category biolink:Gene . OMIM:600478 a owl:Class ; @@ -122381,7 +125600,6 @@ OMIM:600478 a owl:Class ; PMID:9799600 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:614602 ; - oboInOwl:hasDbXref UMLS:C1335829 ; oboInOwl:hasExactSynonym "SKIV2L", "ski2, s. cerevisiae, homolog of", "ski2-like RNA helicase", @@ -122389,7 +125607,9 @@ OMIM:600478 a owl:Class ; "superkiller viralicidic activity 2, s. cerevisiae, homolog-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6499 ; - skos:exactMatch HGNC_symbol:SKIV2L ; + skos:exactMatch UMLS:C1335829, + HGNC:10898, + HGNC_symbol:SKIV2L ; biolink:category biolink:Gene . OMIM:600479 a owl:Class ; @@ -122411,15 +125631,16 @@ OMIM:600480 a owl:Class ; PMID:8355705 ; RO:0002525 CHR:9606chr15q21.3 ; RO:0003303 OMIM:619718 ; - oboInOwl:hasDbXref UMLS:C1420632, - UMLS:C1838101 ; oboInOwl:hasExactSynonym "TCF12", "helix-loop-helix transcription factor 4", "tcf12/nr4a3 fusion gene", "transcription factor 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6938 ; - skos:exactMatch HGNC_symbol:TCF12 ; + skos:exactMatch UMLS:C1420632, + UMLS:C1838101, + HGNC:11623, + HGNC_symbol:TCF12 ; biolink:category biolink:Gene . OMIM:600481 a owl:Class ; @@ -122440,13 +125661,14 @@ OMIM:600481 a owl:Class ; PMID:7958866, PMID:9070916, PMID:9329978 ; - oboInOwl:hasDbXref UMLS:C1420399 ; oboInOwl:hasExactSynonym "SREBF2", "sterol regulatory element-binding protein 2", "sterol regulatory element-binding transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6721 ; - skos:exactMatch HGNC_symbol:SREBF2 ; + skos:exactMatch UMLS:C1420399, + HGNC:11290, + HGNC_symbol:SREBF2 ; biolink:category biolink:Gene . OMIM:600482 a owl:Class ; @@ -122505,13 +125727,14 @@ OMIM:600483 a owl:Class ; PMID:9462741 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:612702 ; - oboInOwl:hasDbXref UMLS:C1333539 ; oboInOwl:hasExactSynonym "FGF8", "androgen-induced growth factor", "fibroblast growth factor 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2253 ; - skos:exactMatch HGNC_symbol:FGF8 ; + skos:exactMatch UMLS:C1333539, + HGNC:3686, + HGNC_symbol:FGF8 ; biolink:category biolink:Gene . OMIM:600484 a owl:Class ; @@ -122531,13 +125754,14 @@ OMIM:600487 a owl:Class ; IAO:0000142 PMID:11776387, PMID:16040806, PMID:7782070 ; - oboInOwl:hasDbXref UMLS:C1418390 ; oboInOwl:hasExactSynonym "PCSK4", "proprotein convertase pc4", "proprotein convertase, subtilisin/kexin-type, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54760 ; - skos:exactMatch HGNC_symbol:PCSK4 ; + skos:exactMatch UMLS:C1418390, + HGNC:8746, + HGNC_symbol:PCSK4 ; biolink:category biolink:Gene . OMIM:600488 a owl:Class ; @@ -122552,13 +125776,14 @@ OMIM:600488 a owl:Class ; PMID:8468318, PMID:8947550, PMID:9067430 ; - oboInOwl:hasDbXref UMLS:C1418391 ; oboInOwl:hasExactSynonym "PCSK5", "proprotein convertase pc5", "proprotein convertase, subtilisin/kexin-type, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5125 ; - skos:exactMatch HGNC_symbol:PCSK5 ; + skos:exactMatch UMLS:C1418391, + HGNC:8747, + HGNC_symbol:PCSK5 ; biolink:category biolink:Gene . OMIM:600490 a owl:Class ; @@ -122584,7 +125809,6 @@ OMIM:600490 a owl:Class ; PMID:8202141, PMID:8235597, PMID:9660947 ; - oboInOwl:hasDbXref UMLS:C1417695 ; oboInOwl:hasExactSynonym "NFATC2", "nfat transcription complex, preexisting component", "nfat1", @@ -122592,18 +125816,21 @@ OMIM:600490 a owl:Class ; "nuclear factor of activated t cells, preexisting component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4773 ; - skos:exactMatch HGNC_symbol:NFATC2 ; + skos:exactMatch UMLS:C1417695, + HGNC:7776, + HGNC_symbol:NFATC2 ; biolink:category biolink:Gene . OMIM:600491 a owl:Class ; rdfs:label "MFAP3" ; IAO:0000142 PMID:7782085 ; - oboInOwl:hasDbXref UMLS:C1417128 ; oboInOwl:hasExactSynonym "MFAP3", "microfibrillar-associated protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4238 ; - skos:exactMatch HGNC_symbol:MFAP3 ; + skos:exactMatch UMLS:C1417128, + HGNC:7034, + HGNC_symbol:MFAP3 ; biolink:category biolink:Gene . OMIM:600492 a owl:Class ; @@ -122630,14 +125857,15 @@ OMIM:600492 a owl:Class ; PMID:7937919 ; RO:0002525 CHR:9606chr2q31.2 ; RO:0003303 OMIM:617744 ; - oboInOwl:hasDbXref UMLS:C1417701 ; oboInOwl:hasExactSynonym "NFE2L2", "nfe2-related factor 2", "nfe2-related transcription factor 2", "nuclear factor erythroid 2-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4780 ; - skos:exactMatch HGNC_symbol:NFE2L2 ; + skos:exactMatch UMLS:C1417701, + HGNC:7782, + HGNC_symbol:NFE2L2 ; biolink:category biolink:Gene . OMIM:600493 a owl:Class ; @@ -122645,13 +125873,14 @@ OMIM:600493 a owl:Class ; IAO:0000142 PMID:22442384, PMID:7601460, PMID:9383301 ; - oboInOwl:hasDbXref UMLS:C1414390 ; oboInOwl:hasExactSynonym "ADGRE1", "adhesion g protein-coupled receptor e1", "egf-like module-containing, mucin-like hormone receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2015 ; - skos:exactMatch HGNC_symbol:ADGRE1 ; + skos:exactMatch UMLS:C1414390, + HGNC:3336, + HGNC_symbol:ADGRE1 ; biolink:category biolink:Gene . OMIM:600494 a owl:Class ; @@ -122664,7 +125893,6 @@ OMIM:600494 a owl:Class ; PMID:7601453, PMID:8276396, PMID:8441633 ; - oboInOwl:hasDbXref UMLS:C1418762 ; oboInOwl:hasExactSynonym "POU3F2", "brn2, mouse, homolog of", "n-oct-3 gene", @@ -122673,7 +125901,9 @@ OMIM:600494 a owl:Class ; "pouf3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5454 ; - skos:exactMatch HGNC_symbol:POU3F2 ; + skos:exactMatch UMLS:C1418762, + HGNC:9215, + HGNC_symbol:POU3F2 ; biolink:category biolink:Gene . OMIM:600495 a owl:Class ; @@ -122695,7 +125925,6 @@ OMIM:600495 a owl:Class ; PMID:9878069 ; RO:0002525 CHR:9606chr3q27.1 ; RO:0003303 OMIM:614251 ; - oboInOwl:hasDbXref UMLS:C1414356 ; oboInOwl:hasExactSynonym "EIF4G1", "eif4-gamma", "eif4gi", @@ -122703,7 +125932,9 @@ OMIM:600495 a owl:Class ; "eukaryotic translation initiation factor 4g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1981 ; - skos:exactMatch HGNC_symbol:EIF4G1 ; + skos:exactMatch UMLS:C1414356, + HGNC:3296, + HGNC_symbol:EIF4G1 ; biolink:category biolink:Gene . OMIM:600496 a owl:Class ; @@ -122719,10 +125950,10 @@ OMIM:600496 a owl:Class ; PMID:8945470, PMID:9045858, PMID:9313763 ; - oboInOwl:hasDbXref UMLS:C1838100 ; oboInOwl:hasExactSynonym "MODY3", "maturity-onset diabetes of the young, iia 3", "mody, iia 3" ; + skos:exactMatch UMLS:C1838100 ; biolink:category biolink:Disease . OMIM:600497 a owl:Class ; @@ -122739,14 +125970,15 @@ OMIM:600497 a owl:Class ; PMID:9208914, PMID:9224708, PMID:9758629 ; - oboInOwl:hasDbXref UMLS:C1418898 ; oboInOwl:hasExactSynonym "PRKAA2", "amp-activated protein kinase, catalytic, alpha-2", "ampk-alpha-2", "protein kinase, amp-activated, catalytic, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5563 ; - skos:exactMatch HGNC_symbol:PRKAA2 ; + skos:exactMatch UMLS:C1418898, + HGNC:9377, + HGNC_symbol:PRKAA2 ; biolink:category biolink:Gene . OMIM:600498 a owl:Class ; @@ -122765,10 +125997,10 @@ OMIM:600501 a owl:Class ; IAO:0000142 PMID:11891690, PMID:397773, PMID:7778600 ; - oboInOwl:hasDbXref UMLS:C1838099 ; oboInOwl:hasExactSynonym "ABCDS", "abcd syndrome", "albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness" ; + skos:exactMatch UMLS:C1838099 ; biolink:category biolink:Disease . OMIM:600502 a owl:Class ; @@ -122793,14 +126025,15 @@ OMIM:600502 a owl:Class ; PMID:9883726 ; RO:0002525 CHR:9606chr11q13.3 ; RO:0003303 OMIM:604320 ; - oboInOwl:hasDbXref UMLS:C1415994 ; oboInOwl:hasExactSynonym "IGHMBP2", "cardiac transcription factor 1", "immunoglobulin mu-binding protein 2", "smubp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3508 ; - skos:exactMatch HGNC_symbol:IGHMBP2 ; + skos:exactMatch UMLS:C1415994, + HGNC:5542, + HGNC_symbol:IGHMBP2 ; biolink:category biolink:Gene . OMIM:600503 a owl:Class ; @@ -122808,7 +126041,6 @@ OMIM:600503 a owl:Class ; IAO:0000142 PMID:15893730, PMID:8062391, PMID:8062392 ; - oboInOwl:hasDbXref UMLS:C1709390 ; oboInOwl:hasExactSynonym "SUB1", "activated RNA polymerase 2 transcription cofactor 4", "p15", @@ -122816,7 +126048,9 @@ OMIM:600503 a owl:Class ; "sub1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10923 ; - skos:exactMatch HGNC_symbol:SUB1 ; + skos:exactMatch UMLS:C1709390, + HGNC:19985, + HGNC_symbol:SUB1 ; biolink:category biolink:Gene . OMIM:600504 a owl:Class ; @@ -122825,13 +126059,14 @@ OMIM:600504 a owl:Class ; PMID:7607694, PMID:8016146, PMID:8051145 ; - oboInOwl:hasDbXref UMLS:C1416586 ; oboInOwl:hasExactSynonym "KCNJ4", "hippocampal inward rectifier potassium channel", "potassium channel, inwardly rectifying, subfamily j, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3761 ; - skos:exactMatch HGNC_symbol:KCNJ4 ; + skos:exactMatch UMLS:C1416586, + HGNC:6265, + HGNC_symbol:KCNJ4 ; biolink:category biolink:Gene . OMIM:600505 a owl:Class ; @@ -122842,14 +126077,15 @@ OMIM:600505 a owl:Class ; PMID:26131937, PMID:7797465, PMID:8050587 ; - oboInOwl:hasDbXref UMLS:C1332795 ; oboInOwl:hasExactSynonym "CSNK1A1", "casein kinase i, alpha-1", "ck1", "ck1-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1452 ; - skos:exactMatch HGNC_symbol:CSNK1A1 ; + skos:exactMatch UMLS:C1332795, + HGNC:2451, + HGNC_symbol:CSNK1A1 ; biolink:category biolink:Gene . OMIM:600506 a owl:Class ; @@ -122869,7 +126105,6 @@ OMIM:600508 a owl:Class ; PMID:7806213, PMID:7956370, PMID:9737977 ; - oboInOwl:hasDbXref UMLS:C1417611 ; oboInOwl:hasExactSynonym "NCK1", "melanoma nck protein", "nck", @@ -122877,7 +126112,9 @@ OMIM:600508 a owl:Class ; "nck-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4690 ; - skos:exactMatch HGNC_symbol:NCK1 ; + skos:exactMatch UMLS:C1417611, + HGNC:7664, + HGNC_symbol:NCK1 ; biolink:category biolink:Gene . OMIM:600509 a owl:Class ; @@ -122928,13 +126165,6 @@ OMIM:600509 a owl:Class ; PMID:9799081 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:240800 ; - oboInOwl:hasDbXref UMLS:C0011860, - UMLS:C0271714, - UMLS:C1412082, - UMLS:C1835887, - UMLS:C2931832, - UMLS:C5394303, - UMLS:C5394566 ; oboInOwl:hasExactSynonym "ABCC8", "atp-binding cassette, subfamily c, member 8", "sulfonylurea receptor", @@ -122942,7 +126172,15 @@ OMIM:600509 a owl:Class ; "sur1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6833 ; - skos:exactMatch HGNC_symbol:ABCC8 ; + skos:exactMatch UMLS:C0011860, + UMLS:C0271714, + UMLS:C1412082, + UMLS:C1835887, + UMLS:C2931832, + UMLS:C5394303, + UMLS:C5394566, + HGNC:59, + HGNC_symbol:ABCC8 ; biolink:category biolink:Gene . OMIM:600513 a owl:Class ; @@ -122958,10 +126196,10 @@ OMIM:600513 a owl:Class ; PMID:9339675, PMID:9758605, PMID:9773047 ; - oboInOwl:hasDbXref UMLS:C1838049 ; oboInOwl:hasExactSynonym "ENFL1", "epilepsy, nocturnal frontal lobe, 1" ; rdfs:subClassOf OMIMPS:600513 ; + skos:exactMatch UMLS:C1838049 ; biolink:category biolink:Disease . OMIM:600514 a owl:Class ; @@ -122998,13 +126236,14 @@ OMIM:600514 a owl:Class ; PMID:9861036 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:616436 ; - oboInOwl:hasDbXref UMLS:C1419337 ; oboInOwl:hasExactSynonym "RELN", "reelin", "rl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5649 ; - skos:exactMatch HGNC_symbol:RELN ; + skos:exactMatch UMLS:C1419337, + HGNC:9957, + HGNC_symbol:RELN ; biolink:category biolink:Gene . OMIM:600515 a owl:Class ; @@ -123021,15 +126260,16 @@ OMIM:600515 a owl:Class ; PMID:7706468 ; RO:0002525 CHR:9606chr3q25.1 ; RO:0003303 OMIM:609821 ; - oboInOwl:hasDbXref UMLS:C1425330, - UMLS:C1853278 ; oboInOwl:hasExactSynonym "P2RY12", "platelet adp receptor", "purinergic receptor p2y, g protein-coupled, 12", "purinoreceptor p2y12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64805 ; - skos:exactMatch HGNC_symbol:P2RY12 ; + skos:exactMatch UMLS:C1425330, + UMLS:C1853278, + HGNC:18124, + HGNC_symbol:P2RY12 ; biolink:category biolink:Gene . OMIM:600516 a owl:Class ; @@ -123054,7 +126294,6 @@ OMIM:600516 a owl:Class ; PMID:7715731, PMID:9299236, PMID:9573342 ; - oboInOwl:hasDbXref UMLS:C1332379 ; oboInOwl:hasExactSynonym "BAK1", "bak", "bak-like", @@ -123062,7 +126301,9 @@ OMIM:600516 a owl:Class ; "bcl2l7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:578 ; - skos:exactMatch HGNC_symbol:BAK1 ; + skos:exactMatch UMLS:C1332379, + HGNC:949, + HGNC_symbol:BAK1 ; biolink:category biolink:Gene . OMIM:600517 a owl:Class ; @@ -123072,13 +126313,14 @@ OMIM:600517 a owl:Class ; PMID:332328, PMID:7724531, PMID:8825656 ; - oboInOwl:hasDbXref UMLS:C1419844 ; oboInOwl:hasExactSynonym "SERPINB3", "serpin peptidase inhibitor, clade B (ovalbumin), member 3", "squamous cell carcinoma antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6317 ; - skos:exactMatch HGNC_symbol:SERPINB3 ; + skos:exactMatch UMLS:C1419844, + HGNC:10569, + HGNC_symbol:SERPINB3 ; biolink:category biolink:Gene . OMIM:600518 a owl:Class ; @@ -123089,14 +126331,15 @@ OMIM:600518 a owl:Class ; PMID:7589435, PMID:7724531, PMID:8999871 ; - oboInOwl:hasDbXref UMLS:C1419845 ; oboInOwl:hasExactSynonym "SERPINB4", "leupin", "serpin peptidase inhibitor, clade B (ovalbumin), member 4", "squamous cell carcinoma antigen 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6318 ; - skos:exactMatch HGNC_symbol:SERPINB4 ; + skos:exactMatch UMLS:C1419845, + HGNC:10570, + HGNC_symbol:SERPINB4 ; biolink:category biolink:Gene . OMIM:600519 a owl:Class ; @@ -123104,13 +126347,14 @@ OMIM:600519 a owl:Class ; IAO:0000142 PMID:11089979, PMID:12107178, PMID:7724559 ; - oboInOwl:hasDbXref UMLS:C1333717 ; oboInOwl:hasExactSynonym "GTF2A2", "general transcription factor iia, gamma subunit", "transcription factor iia, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2958 ; - skos:exactMatch HGNC_symbol:GTF2A2 ; + skos:exactMatch UMLS:C1333717, + HGNC:4647, + HGNC_symbol:GTF2A2 ; biolink:category biolink:Gene . OMIM:600520 a owl:Class ; @@ -123119,13 +126363,14 @@ OMIM:600520 a owl:Class ; PMID:20559389, PMID:7724559, PMID:8224848 ; - oboInOwl:hasDbXref UMLS:C1333716 ; oboInOwl:hasExactSynonym "GTF2A1", "general transcription factor iia, alpha/beta subunits", "transcription factor iia, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2957 ; - skos:exactMatch HGNC_symbol:GTF2A1 ; + skos:exactMatch UMLS:C1333716, + HGNC:4646, + HGNC_symbol:GTF2A1 ; biolink:category biolink:Gene . OMIM:600521 a owl:Class ; @@ -123145,14 +126390,15 @@ OMIM:600521 a owl:Class ; PMID:8921412 ; RO:0002525 CHR:9606chr3q27.3 ; RO:0003303 OMIM:257920 ; - oboInOwl:hasDbXref UMLS:C1417036 ; oboInOwl:hasExactSynonym "MASP1", "complement-activating component of ra-reactive factor", "mannan-binding lectin serine protease 1", "masp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5648 ; - skos:exactMatch HGNC_symbol:MASP1 ; + skos:exactMatch UMLS:C1417036, + HGNC:6901, + HGNC_symbol:MASP1 ; biolink:category biolink:Gene . OMIM:600522 a owl:Class ; @@ -123174,14 +126420,15 @@ OMIM:600522 a owl:Class ; PMID:8175726 ; RO:0002525 CHR:9606chr1q31.1 ; RO:0003303 OMIM:618372 ; - oboInOwl:hasDbXref UMLS:C1418620 ; oboInOwl:hasExactSynonym "PLA2G4A", "cpla2-alpha", "phospholipase a2, cytosolic, calcium-dependent, alpha", "phospholipase a2, group 4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5321 ; - skos:exactMatch HGNC_symbol:PLA2G4A ; + skos:exactMatch UMLS:C1418620, + HGNC:9035, + HGNC_symbol:PLA2G4A ; biolink:category biolink:Gene . OMIM:600524 a owl:Class ; @@ -123193,13 +126440,14 @@ OMIM:600524 a owl:Class ; PMID:16280981, PMID:7613029, PMID:8386829 ; - oboInOwl:hasDbXref UMLS:C1335655 ; oboInOwl:hasExactSynonym "RYK", "ryk receptor-like tyrosine kinase", "ryk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6259 ; - skos:exactMatch HGNC_symbol:RYK ; + skos:exactMatch UMLS:C1335655, + HGNC:10481, + HGNC_symbol:RYK ; biolink:category biolink:Gene . OMIM:600525 a owl:Class ; @@ -123214,12 +126462,13 @@ OMIM:600525 a owl:Class ; PMID:9874789 ; RO:0002525 CHR:9606chr17q21.33 ; RO:0003303 OMIM:190320 ; - oboInOwl:hasDbXref UMLS:C1414077 ; oboInOwl:hasExactSynonym "DLX3", "distal-less homeobox 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1747 ; - skos:exactMatch HGNC_symbol:DLX3 ; + skos:exactMatch UMLS:C1414077, + HGNC:2916, + HGNC_symbol:DLX3 ; biolink:category biolink:Gene . OMIM:600526 a owl:Class ; @@ -123230,14 +126479,15 @@ OMIM:600526 a owl:Class ; PMID:8358177, PMID:8938448, PMID:9730619 ; - oboInOwl:hasDbXref UMLS:C1414387 ; oboInOwl:hasExactSynonym "MARK2", "elkl motif kinase", "map/microtubule affinity-regulating kinase 2", "par1, c. elegans, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2011 ; - skos:exactMatch HGNC_symbol:MARK2 ; + skos:exactMatch UMLS:C1414387, + HGNC:3332, + HGNC_symbol:MARK2 ; biolink:category biolink:Gene . OMIM:600527 a owl:Class ; @@ -123262,7 +126512,6 @@ OMIM:600527 a owl:Class ; PMID:8559144, PMID:8761303, PMID:9630219 ; - oboInOwl:hasDbXref UMLS:C1414306 ; oboInOwl:hasExactSynonym "EFNB2", "eph-related receptor tyrosine kinase ligand 5", "ephrin b2", @@ -123270,7 +126519,9 @@ OMIM:600527 a owl:Class ; "ligand of eph-related kinase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1948 ; - skos:exactMatch HGNC_symbol:EFNB2 ; + skos:exactMatch UMLS:C1414306, + HGNC:3227, + HGNC_symbol:EFNB2 ; biolink:category biolink:Gene . OMIM:600528 a owl:Class ; @@ -123302,10 +126553,6 @@ OMIM:600528 a owl:Class ; PMID:9691089 ; RO:0002525 CHR:9606chr11q13.3 ; RO:0003303 OMIM:255120 ; - oboInOwl:hasDbXref UMLS:C1413688, - UMLS:C1829703, - UMLS:C4749072, - UMLS:C4749136 ; oboInOwl:hasExactSynonym "CPT1A", "carnitine palmitoyltransferase i, liver", "cpt 1a", @@ -123313,7 +126560,12 @@ OMIM:600528 a owl:Class ; "cpt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1374 ; - skos:exactMatch HGNC_symbol:CPT1A ; + skos:exactMatch UMLS:C1413688, + UMLS:C1829703, + UMLS:C4749072, + UMLS:C4749136, + HGNC:2328, + HGNC_symbol:CPT1A ; biolink:category biolink:Gene . OMIM:600529 a owl:Class ; @@ -123331,40 +126583,43 @@ OMIM:600529 a owl:Class ; PMID:7892223 ; RO:0002525 CHR:9606chr9q22.31 ; RO:0003303 OMIM:250950 ; - oboInOwl:hasDbXref UMLS:C0342727, - UMLS:C1332121 ; oboInOwl:hasExactSynonym "3-methylglutaconyl-coa hydratase", "AUH", "au-specific rna-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:549 ; - skos:exactMatch HGNC_symbol:AUH ; + skos:exactMatch UMLS:C0342727, + UMLS:C1332121, + HGNC:890, + HGNC_symbol:AUH ; biolink:category biolink:Gene . OMIM:600530 a owl:Class ; rdfs:label "SLC9A2" ; IAO:0000142 PMID:8595899, PMID:8824815 ; - oboInOwl:hasDbXref UMLS:C1420233 ; oboInOwl:hasExactSynonym "SLC9A2", "sodium/hydrogen exchanger 2", "solute carrier family 9, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6549 ; - skos:exactMatch HGNC_symbol:SLC9A2 ; + skos:exactMatch UMLS:C1420233, + HGNC:11072, + HGNC_symbol:SLC9A2 ; biolink:category biolink:Gene . OMIM:600531 a owl:Class ; rdfs:label "SLC9A4" ; IAO:0000142 PMID:8199403, PMID:8824815 ; - oboInOwl:hasDbXref UMLS:C1420238 ; oboInOwl:hasExactSynonym "SLC9A4", "sodium/hydrogen exchanger 4", "solute carrier family 9, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389015 ; - skos:exactMatch HGNC_symbol:SLC9A4 ; + skos:exactMatch UMLS:C1420238, + HGNC:11077, + HGNC_symbol:SLC9A4 ; biolink:category biolink:Gene . OMIM:600532 a owl:Class ; @@ -123379,13 +126634,14 @@ OMIM:600532 a owl:Class ; PMID:9570948 ; RO:0002525 CHR:9606chr18p11.22 ; RO:0003303 OMIM:618229 ; - oboInOwl:hasDbXref UMLS:C1417653 ; oboInOwl:hasExactSynonym "NDUFV2", "complex i, mitochondrial respiratory chain, 24-kd subunit", "nadh-ubiquinone oxidoreductase flavoprotein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4729 ; - skos:exactMatch HGNC_symbol:NDUFV2 ; + skos:exactMatch UMLS:C1417653, + HGNC:7717, + HGNC_symbol:NDUFV2 ; biolink:category biolink:Gene . OMIM:600533 a owl:Class ; @@ -123414,7 +126670,6 @@ OMIM:600533 a owl:Class ; PMID:7607671 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:182940 ; - oboInOwl:hasDbXref UMLS:C1423541 ; oboInOwl:hasExactSynonym "VANGL2", "kiaa1215", "loop-tail protein 1", @@ -123426,7 +126681,9 @@ OMIM:600533 a owl:Class ; "vangl planar cell polarity protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57216 ; - skos:exactMatch HGNC_symbol:VANGL2 ; + skos:exactMatch UMLS:C1423541, + HGNC:15511, + HGNC_symbol:VANGL2 ; biolink:category biolink:Gene . OMIM:600534 a owl:Class ; @@ -123438,14 +126695,15 @@ OMIM:600534 a owl:Class ; PMID:21796732, PMID:23028328, PMID:7607676 ; - oboInOwl:hasDbXref UMLS:C1412831 ; oboInOwl:hasExactSynonym "BST2", "bone marrow stromal cell antigen 2", "cd317 antigen", "tetherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:684 ; - skos:exactMatch HGNC_symbol:BST2 ; + skos:exactMatch UMLS:C1412831, + HGNC:1119, + HGNC_symbol:BST2 ; biolink:category biolink:Gene . OMIM:600536 a owl:Class ; @@ -123456,12 +126714,13 @@ OMIM:600536 a owl:Class ; PMID:9590299 ; RO:0002525 CHR:9606chr12q13.2 ; RO:0003303 OMIM:613204 ; - oboInOwl:hasDbXref UMLS:C1416489 ; oboInOwl:hasExactSynonym "ITGA7", "integrin, alpha-7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3679 ; - skos:exactMatch HGNC_symbol:ITGA7 ; + skos:exactMatch UMLS:C1416489, + HGNC:6143, + HGNC_symbol:ITGA7 ; biolink:category biolink:Gene . OMIM:600537 a owl:Class ; @@ -123469,13 +126728,14 @@ OMIM:600537 a owl:Class ; IAO:0000142 PMID:10678659, PMID:7607686, PMID:7961977 ; - oboInOwl:hasDbXref UMLS:C1335609 ; oboInOwl:hasExactSynonym "DNA helicase, recq-like, iia 1", "RECQL", "recq protein-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5965 ; - skos:exactMatch HGNC_symbol:RECQL ; + skos:exactMatch UMLS:C1335609, + HGNC:9948, + HGNC_symbol:RECQL ; biolink:category biolink:Gene . OMIM:600538 a owl:Class ; @@ -123489,7 +126749,6 @@ OMIM:600538 a owl:Class ; PMID:7607688, PMID:8026862, PMID:8041738 ; - oboInOwl:hasDbXref UMLS:C1418880 ; oboInOwl:hasExactSynonym "PRDX2", "natural killer-enhancing factor B", "peroxide reductase, thioredoxin-dependent", @@ -123497,7 +126756,9 @@ OMIM:600538 a owl:Class ; "prx2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7001 ; - skos:exactMatch HGNC_symbol:PRDX2 ; + skos:exactMatch UMLS:C1418880, + HGNC:9353, + HGNC_symbol:PRDX2 ; biolink:category biolink:Gene . OMIM:600540 a owl:Class ; @@ -123509,13 +126770,14 @@ OMIM:600540 a owl:Class ; PMID:23851392, PMID:7559627, PMID:7607696 ; - oboInOwl:hasDbXref UMLS:C1420334 ; oboInOwl:hasExactSynonym "SP4", "hf1b", "transcription factor sp4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6671 ; - skos:exactMatch HGNC_symbol:SP4 ; + skos:exactMatch UMLS:C1420334, + HGNC:11209, + HGNC_symbol:SP4 ; biolink:category biolink:Gene . OMIM:600541 a owl:Class ; @@ -123530,8 +126792,6 @@ OMIM:600541 a owl:Class ; PMID:25624099, PMID:26359400, PMID:7700648 ; - oboInOwl:hasDbXref UMLS:C1333361, - UMLS:C2677452 ; oboInOwl:hasExactSynonym "ETV1", "er81, mouse, homolog of", "ets translocation variant 1", @@ -123541,7 +126801,10 @@ OMIM:600541 a owl:Class ; "etv1/tmprss2 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2115 ; - skos:exactMatch HGNC_symbol:ETV1 ; + skos:exactMatch UMLS:C1333361, + UMLS:C2677452, + HGNC:3490, + HGNC_symbol:ETV1 ; biolink:category biolink:Gene . OMIM:600542 a owl:Class ; @@ -123569,10 +126832,6 @@ OMIM:600542 a owl:Class ; PMID:9573341 ; RO:0002525 CHR:9606chr9q31.1 ; RO:0003303 OMIM:612237 ; - oboInOwl:hasDbXref UMLS:C1417837, - UMLS:C1838101, - UMLS:C2675456, - UMLS:C2677451 ; oboInOwl:hasExactSynonym "NR4A3", "chn", "chondrosarcoma, myxoid extraskeletal, fused to ews", @@ -123584,7 +126843,12 @@ OMIM:600542 a owl:Class ; "nuclear receptor subfamily 4, group a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8013 ; - skos:exactMatch HGNC_symbol:NR4A3 ; + skos:exactMatch UMLS:C1417837, + UMLS:C1838101, + UMLS:C2675456, + UMLS:C2677451, + HGNC:7982, + HGNC_symbol:NR4A3 ; biolink:category biolink:Gene . OMIM:600543 a owl:Class ; @@ -123613,7 +126877,6 @@ OMIM:600543 a owl:Class ; PMID:9771476 ; RO:0002525 CHR:9606chr2q34 ; RO:0003303 OMIM:615515 ; - oboInOwl:hasDbXref UMLS:C0812267 ; oboInOwl:hasExactSynonym "ERBB4", "erb-b2 receptor tyrosine kinase 4", "oncogene erbb4", @@ -123621,7 +126884,9 @@ OMIM:600543 a owl:Class ; "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2066 ; - skos:exactMatch HGNC_symbol:ERBB4 ; + skos:exactMatch UMLS:C0812267, + HGNC:3432, + HGNC_symbol:ERBB4 ; biolink:category biolink:Gene . OMIM:600544 a owl:Class ; @@ -123629,13 +126894,14 @@ OMIM:600544 a owl:Class ; IAO:0000142 PMID:7896779, PMID:8139693, PMID:9207295 ; - oboInOwl:hasDbXref UMLS:C1420100 ; oboInOwl:hasExactSynonym "SLC15A1", "hydrogen ion/peptide cotransporter, intestinal", "solute carrier family 15 (oligopeptide transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6564 ; - skos:exactMatch HGNC_symbol:SLC15A1 ; + skos:exactMatch UMLS:C1420100, + HGNC:10920, + HGNC_symbol:SLC15A1 ; biolink:category biolink:Gene . OMIM:600545 a owl:Class ; @@ -123646,21 +126912,22 @@ OMIM:600546 a owl:Class ; rdfs:label "intrauterine growth retardation with increased mitomycin c sensitivity" ; IAO:0000142 PMID:3115102, PMID:7643362 ; - oboInOwl:hasDbXref UMLS:C2931307 ; - oboInOwl:hasExactSynonym "intrauterine growth retardation with increased mitomycin c sensitivity" . + oboInOwl:hasExactSynonym "intrauterine growth retardation with increased mitomycin c sensitivity" ; + skos:exactMatch UMLS:C2931307 . OMIM:600547 a owl:Class ; rdfs:label "CCBL1" ; IAO:0000142 PMID:16376499, PMID:7883047 ; - oboInOwl:hasDbXref UMLS:C1413165 ; oboInOwl:hasExactSynonym "CCBL1", "beta-lyase, kidney", "cysteine conjugate beta-lyase 1", "kynurenine aminotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:883 ; - skos:exactMatch HGNC_symbol:KYAT1 ; + skos:exactMatch UMLS:C1413165, + HGNC:1564, + HGNC_symbol:KYAT1 ; biolink:category biolink:Gene . OMIM:600548 a owl:Class ; @@ -123679,7 +126946,6 @@ OMIM:600548 a owl:Class ; PMID:7698336 ; RO:0002525 CHR:9606chr5q31.2 ; RO:0003303 OMIM:616854 ; - oboInOwl:hasDbXref UMLS:C1825549 ; oboInOwl:hasExactSynonym "HSPA9", "glucose-regulated protein, 75-kd", "heat-shock 70-kd protein 9", @@ -123689,7 +126955,9 @@ OMIM:600548 a owl:Class ; "mortalin, perinuclear" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3313 ; - skos:exactMatch HGNC_symbol:HSPA9 ; + skos:exactMatch UMLS:C1825549, + HGNC:5244, + HGNC_symbol:HSPA9 ; biolink:category biolink:Gene . OMIM:600549 a owl:Class ; @@ -123699,7 +126967,6 @@ OMIM:600549 a owl:Class ; PMID:24945353, PMID:7970704, PMID:9160666 ; - oboInOwl:hasDbXref UMLS:C1416378 ; oboInOwl:hasExactSynonym "IK", "cytokine 1k", "ik cytokine, downregulator of hla 2", @@ -123707,18 +126974,21 @@ OMIM:600549 a owl:Class ; "red" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3550 ; - skos:exactMatch HGNC_symbol:IK ; + skos:exactMatch UMLS:C1416378, + HGNC:5958, + HGNC_symbol:IK ; biolink:category biolink:Gene . OMIM:600550 a owl:Class ; rdfs:label "CTSO" ; IAO:0000142 PMID:7929457 ; - oboInOwl:hasDbXref UMLS:C1413820 ; oboInOwl:hasExactSynonym "CTSO", "cathepsin o" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1519 ; - skos:exactMatch HGNC_symbol:CTSO ; + skos:exactMatch UMLS:C1413820, + HGNC:2542, + HGNC_symbol:CTSO ; biolink:category biolink:Gene . OMIM:600551 a owl:Class ; @@ -123730,12 +127000,13 @@ OMIM:600551 a owl:Class ; PMID:26068853, PMID:7832990, PMID:8595909 ; - oboInOwl:hasDbXref UMLS:C1415233 ; oboInOwl:hasExactSynonym "GPR4", "g protein-coupled receptor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2828 ; - skos:exactMatch HGNC_symbol:GPR4 ; + skos:exactMatch UMLS:C1415233, + HGNC:4497, + HGNC_symbol:GPR4 ; biolink:category biolink:Gene . OMIM:600552 a owl:Class ; @@ -123744,7 +127015,6 @@ OMIM:600552 a owl:Class ; PMID:7683036, PMID:7832990, PMID:9632725 ; - oboInOwl:hasDbXref UMLS:C1337029 ; oboInOwl:hasExactSynonym "XCR1", "ccxcr1", "chemokine, c motif, receptor 1", @@ -123753,19 +127023,22 @@ OMIM:600552 a owl:Class ; "xc chemokine receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2829 ; - skos:exactMatch HGNC_symbol:XCR1 ; + skos:exactMatch UMLS:C1337029, + HGNC:1625, + HGNC_symbol:XCR1 ; biolink:category biolink:Gene . OMIM:600553 a owl:Class ; rdfs:label "GPR6" ; IAO:0000142 PMID:7832990, PMID:8530049 ; - oboInOwl:hasDbXref UMLS:C1415249 ; oboInOwl:hasExactSynonym "GPR6", "g protein-coupled receptor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2830 ; - skos:exactMatch HGNC_symbol:GPR6 ; + skos:exactMatch UMLS:C1415249, + HGNC:4515, + HGNC_symbol:GPR6 ; biolink:category biolink:Gene . OMIM:600554 a owl:Class ; @@ -123793,12 +127066,13 @@ OMIM:600554 a owl:Class ; PMID:7759105, PMID:8026467, PMID:8178155 ; - oboInOwl:hasDbXref UMLS:C1334105 ; oboInOwl:hasExactSynonym "IL15", "interleukin 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3600 ; - skos:exactMatch HGNC_symbol:IL15 ; + skos:exactMatch UMLS:C1334105, + HGNC:5977, + HGNC_symbol:IL15 ; biolink:category biolink:Gene . OMIM:600555 a owl:Class ; @@ -123854,15 +127128,16 @@ OMIM:600555 a owl:Class ; PMID:9925928 ; RO:0002525 CHR:9606chr2q32.2 ; RO:0003303 OMIM:614162 ; - oboInOwl:hasDbXref UMLS:C1335872, - UMLS:C3151088, - UMLS:C3279990, - UMLS:C4013950 ; oboInOwl:hasExactSynonym "STAT1", "signal transducer and activator of transcription 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6772 ; - skos:exactMatch HGNC_symbol:STAT1 ; + skos:exactMatch UMLS:C1335872, + UMLS:C3151088, + UMLS:C3279990, + UMLS:C4013950, + HGNC:11362, + HGNC_symbol:STAT1 ; biolink:category biolink:Gene . OMIM:600556 a owl:Class ; @@ -123886,14 +127161,15 @@ OMIM:600556 a owl:Class ; PMID:9020188 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:618886 ; - oboInOwl:hasDbXref UMLS:C1335873, - UMLS:C4225260, - UMLS:C5394391 ; oboInOwl:hasExactSynonym "STAT2", "signal transducer and activator of transcription 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6773 ; - skos:exactMatch HGNC_symbol:STAT2 ; + skos:exactMatch UMLS:C1335873, + UMLS:C4225260, + UMLS:C5394391, + HGNC:11363, + HGNC_symbol:STAT2 ; biolink:category biolink:Gene . OMIM:600557 a owl:Class ; @@ -123916,20 +127192,21 @@ OMIM:600558 a owl:Class ; PMID:9284918 ; RO:0002525 CHR:9606chr2q32.2-q32.3 ; RO:0003303 OMIM:612253 ; - oboInOwl:hasDbXref UMLS:C1335874 ; oboInOwl:hasExactSynonym "STAT4", "signal transducer and activator of transcription 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6775 ; - skos:exactMatch HGNC_symbol:STAT4 ; + skos:exactMatch UMLS:C1335874, + HGNC:11365, + HGNC_symbol:STAT4 ; biolink:category biolink:Gene . OMIM:600559 a owl:Class ; rdfs:label "hydrocephalus, endocardial fibroelastosis, and cataracts" ; IAO:0000142 PMID:7747788 ; - oboInOwl:hasDbXref UMLS:C1833607 ; oboInOwl:hasExactSynonym "hec syndrome", - "hydrocephalus, endocardial fibroelastosis, and cataracts" . + "hydrocephalus, endocardial fibroelastosis, and cataracts" ; + skos:exactMatch UMLS:C1833607 . OMIM:600560 a owl:Class ; rdfs:label "SHC1" ; @@ -123944,7 +127221,6 @@ OMIM:600560 a owl:Class ; PMID:7635484, PMID:7806213, PMID:9192859 ; - oboInOwl:hasDbXref UMLS:C1335821 ; oboInOwl:hasExactSynonym "SHC1", "p46", "p52", @@ -123953,14 +127229,16 @@ OMIM:600560 a owl:Class ; "shc transforming protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6464 ; - skos:exactMatch HGNC_symbol:SHC1 ; + skos:exactMatch UMLS:C1335821, + HGNC:10840, + HGNC_symbol:SHC1 ; biolink:category biolink:Gene . OMIM:600561 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia with atlantoaxial instability" ; IAO:0000142 PMID:7747755 ; - oboInOwl:hasDbXref UMLS:C1833603 ; - oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia with atlantoaxial instability" . + oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia with atlantoaxial instability" ; + skos:exactMatch UMLS:C1833603 . OMIM:600562 a owl:Class ; rdfs:label "CDH12" ; @@ -123968,7 +127246,6 @@ OMIM:600562 a owl:Class ; PMID:7704025, PMID:7731968, PMID:7813013 ; - oboInOwl:hasDbXref UMLS:C1413270 ; oboInOwl:hasExactSynonym "CDH12", "br-cadherin", "cadherin 12", @@ -123976,7 +127253,9 @@ OMIM:600562 a owl:Class ; "n-cadherin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1010 ; - skos:exactMatch HGNC_symbol:CDH12 ; + skos:exactMatch UMLS:C1413270, + HGNC:1751, + HGNC_symbol:CDH12 ; biolink:category biolink:Gene . OMIM:600563 a owl:Class ; @@ -123988,13 +127267,14 @@ OMIM:600563 a owl:Class ; PMID:8833158, PMID:9235889, PMID:9918852 ; - oboInOwl:hasDbXref UMLS:C1419068 ; oboInOwl:hasExactSynonym "PTGFR", "prostaglandin f receptor", "prostaglandin receptor f(2-alpha)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5737 ; - skos:exactMatch HGNC_symbol:PTGFR ; + skos:exactMatch UMLS:C1419068, + HGNC:9600, + HGNC_symbol:PTGFR ; biolink:category biolink:Gene . OMIM:600565 a owl:Class ; @@ -124028,12 +127308,13 @@ OMIM:600565 a owl:Class ; PMID:9921901 ; RO:0002525 CHR:9606chr2p16.3 ; RO:0003303 OMIM:614332 ; - oboInOwl:hasDbXref UMLS:C1417851 ; oboInOwl:hasExactSynonym "NRXN1", "neurexin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9378 ; - skos:exactMatch HGNC_symbol:NRXN1 ; + skos:exactMatch UMLS:C1417851, + HGNC:8008, + HGNC_symbol:NRXN1 ; biolink:category biolink:Gene . OMIM:600566 a owl:Class ; @@ -124045,12 +127326,13 @@ OMIM:600566 a owl:Class ; PMID:21424692, PMID:9448462, PMID:9888998 ; - oboInOwl:hasDbXref UMLS:C1417852 ; oboInOwl:hasExactSynonym "NRXN2", "neurexin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9379 ; - skos:exactMatch HGNC_symbol:NRXN2 ; + skos:exactMatch UMLS:C1417852, + HGNC:8009, + HGNC_symbol:NRXN2 ; biolink:category biolink:Gene . OMIM:600567 a owl:Class ; @@ -124065,12 +127347,13 @@ OMIM:600567 a owl:Class ; PMID:29681532, PMID:9448462, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1417853 ; oboInOwl:hasExactSynonym "NRXN3", "neurexin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9369 ; - skos:exactMatch HGNC_symbol:NRXN3 ; + skos:exactMatch UMLS:C1417853, + HGNC:8010, + HGNC_symbol:NRXN3 ; biolink:category biolink:Gene . OMIM:600568 a owl:Class ; @@ -124094,15 +127377,16 @@ OMIM:600568 a owl:Class ; PMID:7736595 ; RO:0002525 CHR:9606chr3q26.31 ; RO:0003303 OMIM:618830 ; - oboInOwl:hasDbXref UMLS:C1422548, - UMLS:C2986382, - UMLS:C5394226 ; oboInOwl:hasExactSynonym "NLGN1", "neuroligin 1", "nl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22871 ; - skos:exactMatch HGNC_symbol:NLGN1 ; + skos:exactMatch UMLS:C1422548, + UMLS:C2986382, + UMLS:C5394226, + HGNC:14291, + HGNC_symbol:NLGN1 ; biolink:category biolink:Gene . OMIM:600569 a owl:Class ; @@ -124129,13 +127413,14 @@ OMIM:600570 a owl:Class ; PMID:9520461 ; RO:0002525 CHR:9606chr3q27.1 ; RO:0003303 OMIM:607628 ; - oboInOwl:hasDbXref UMLS:C1413451 ; oboInOwl:hasExactSynonym "CLCN2", "chloride channel 2", "clc2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1181 ; - skos:exactMatch HGNC_symbol:CLCN2 ; + skos:exactMatch UMLS:C1413451, + HGNC:2020, + HGNC_symbol:CLCN2 ; biolink:category biolink:Gene . OMIM:600571 a owl:Class ; @@ -124174,16 +127459,17 @@ OMIM:600571 a owl:Class ; PMID:9771705 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:616806 ; - oboInOwl:hasDbXref UMLS:C1419346, - UMLS:C3887929, - UMLS:C4225584, - UMLS:C4539942 ; oboInOwl:hasExactSynonym "REST", "neuron-restrictive silencer factor", "re1-silencing transcription factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5978 ; - skos:exactMatch HGNC_symbol:REST ; + skos:exactMatch UMLS:C1419346, + UMLS:C3887929, + UMLS:C4225584, + UMLS:C4539942, + HGNC:9966, + HGNC_symbol:REST ; biolink:category biolink:Gene . OMIM:600572 a owl:Class ; @@ -124191,14 +127477,15 @@ OMIM:600572 a owl:Class ; IAO:0000142 PMID:17361132, PMID:7629084, PMID:8013463 ; - oboInOwl:hasDbXref UMLS:C1419998 ; oboInOwl:hasExactSynonym "SRSF7", "serine/arginine-rich splicing factor 7", "splicing factor, arginine/serine-rich, 7", "splicing factor, serine/arginine-rich, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6432 ; - skos:exactMatch HGNC_symbol:SRSF7 ; + skos:exactMatch UMLS:C1419998, + HGNC:10789, + HGNC_symbol:SRSF7 ; biolink:category biolink:Gene . OMIM:600573 a owl:Class ; @@ -124206,14 +127493,15 @@ OMIM:600573 a owl:Class ; IAO:0000142 PMID:11230163, PMID:16407123, PMID:7824954 ; - oboInOwl:hasDbXref UMLS:C1336571 ; oboInOwl:hasExactSynonym "TAF7", "taf7 RNA polymerase ii, tata box-binding protein-associated factor, 55-kd", "tata box-binding protein-associated factor 2f", "tbp-associated factor, RNA polymerase ii, 55-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6879 ; - skos:exactMatch HGNC_symbol:TAF7 ; + skos:exactMatch UMLS:C1336571, + HGNC:11541, + HGNC_symbol:TAF7 ; biolink:category biolink:Gene . OMIM:600574 a owl:Class ; @@ -124230,15 +127518,16 @@ OMIM:600574 a owl:Class ; PMID:7633402 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:615670 ; - oboInOwl:hasDbXref UMLS:C1416947, - UMLS:C1854469, - UMLS:C3810283, - UMLS:C4225280 ; oboInOwl:hasExactSynonym "LZTR1", "leucine zipper-like transcriptional regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8216 ; - skos:exactMatch HGNC_symbol:LZTR1 ; + skos:exactMatch UMLS:C1416947, + UMLS:C1854469, + UMLS:C3810283, + UMLS:C4225280, + HGNC:6742, + HGNC_symbol:LZTR1 ; biolink:category biolink:Gene . OMIM:600575 a owl:Class ; @@ -124250,14 +127539,15 @@ OMIM:600575 a owl:Class ; PMID:7947454, PMID:8134113, PMID:9244443 ; - oboInOwl:hasDbXref UMLS:C1421205 ; oboInOwl:hasExactSynonym "TSN", "recombination hotspot-associated factor 1", "testis-brain rna-binding protein", "translin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7247 ; - skos:exactMatch HGNC_symbol:TSN ; + skos:exactMatch UMLS:C1421205, + HGNC:12379, + HGNC_symbol:TSN ; biolink:category biolink:Gene . OMIM:600576 a owl:Class ; @@ -124304,12 +127594,13 @@ OMIM:600576 a owl:Class ; PMID:9403619 ; RO:0002525 CHR:9606chr8p23.1 ; RO:0003303 OMIM:614429 ; - oboInOwl:hasDbXref UMLS:C1414995 ; oboInOwl:hasExactSynonym "GATA4", "gata-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2626 ; - skos:exactMatch HGNC_symbol:GATA4 ; + skos:exactMatch UMLS:C1414995, + HGNC:4173, + HGNC_symbol:GATA4 ; biolink:category biolink:Gene . OMIM:600577 a owl:Class ; @@ -124334,13 +127625,14 @@ OMIM:600577 a owl:Class ; PMID:9865699 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:221750 ; - oboInOwl:hasDbXref UMLS:C1416850 ; oboInOwl:hasExactSynonym "LHX3", "lim homeobox gene 3", "lim3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8022 ; - skos:exactMatch HGNC_symbol:LHX3 ; + skos:exactMatch UMLS:C1416850, + HGNC:6595, + HGNC_symbol:LHX3 ; biolink:category biolink:Gene . OMIM:600578 a owl:Class ; @@ -124348,13 +127640,14 @@ OMIM:600578 a owl:Class ; IAO:0000142 PMID:3375818, PMID:7665158, PMID:8276453 ; - oboInOwl:hasDbXref UMLS:C1418029 ; oboInOwl:hasExactSynonym "OR2H3", "olfactory receptor 2", "olfactory receptor, family 2, subfamily h, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7932 ; - skos:exactMatch HGNC_symbol:OR2H2 ; + skos:exactMatch UMLS:C1418029, + HGNC:8253, + HGNC_symbol:OR2H2 ; biolink:category biolink:Gene . OMIM:600580 a owl:Class ; @@ -124367,13 +127660,14 @@ OMIM:600580 a owl:Class ; PMID:9521585 ; RO:0002525 CHR:9606chr4q33 ; RO:0003303 OMIM:619517 ; - oboInOwl:hasDbXref UMLS:C1413452 ; oboInOwl:hasExactSynonym "CLCN3", "chloride channel 3", "clc3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1182 ; - skos:exactMatch HGNC_symbol:CLCN3 ; + skos:exactMatch UMLS:C1413452, + HGNC:2021, + HGNC_symbol:CLCN3 ; biolink:category biolink:Gene . OMIM:600581 a owl:Class ; @@ -124381,13 +127675,14 @@ OMIM:600581 a owl:Class ; IAO:0000142 PMID:15723065, PMID:7665172, PMID:9872455 ; - oboInOwl:hasDbXref UMLS:C1415857 ; oboInOwl:hasExactSynonym "ID4", "idb4", "inhibitor of DNA binding 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3400 ; - skos:exactMatch HGNC_symbol:ID4 ; + skos:exactMatch UMLS:C1415857, + HGNC:5363, + HGNC_symbol:ID4 ; biolink:category biolink:Gene . OMIM:600583 a owl:Class ; @@ -124395,12 +127690,13 @@ OMIM:600583 a owl:Class ; IAO:0000142 PMID:17684099, PMID:18329366, PMID:7934162 ; - oboInOwl:hasDbXref UMLS:C1336601 ; oboInOwl:hasExactSynonym "TEC", "tec protein tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7006 ; - skos:exactMatch HGNC_symbol:TEC ; + skos:exactMatch UMLS:C1336601, + HGNC:11719, + HGNC_symbol:TEC ; biolink:category biolink:Gene . OMIM:600584 a owl:Class ; @@ -124450,7 +127746,6 @@ OMIM:600584 a owl:Class ; PMID:9651244 ; RO:0002525 CHR:9606chr5q35.1 ; RO:0003303 OMIM:614432 ; - oboInOwl:hasDbXref UMLS:C1413784 ; oboInOwl:hasExactSynonym "NKX2-5", "cardiac-specific homeobox 1", "csx", @@ -124459,7 +127754,9 @@ OMIM:600584 a owl:Class ; "nkx2.5, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1482 ; - skos:exactMatch HGNC_symbol:NKX2-5 ; + skos:exactMatch UMLS:C1413784, + HGNC:2488, + HGNC_symbol:NKX2-5 ; biolink:category biolink:Gene . OMIM:600585 a owl:Class ; @@ -124467,14 +127764,15 @@ OMIM:600585 a owl:Class ; IAO:0000142 PMID:7665178, PMID:7916568, PMID:8645175 ; - oboInOwl:hasDbXref UMLS:C1420716 ; oboInOwl:hasExactSynonym "TGM4", "transglutaminase 4", "transglutaminase p", "transglutaminase, prostate" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7047 ; - skos:exactMatch HGNC_symbol:TGM4 ; + skos:exactMatch UMLS:C1420716, + HGNC:11780, + HGNC_symbol:TGM4 ; biolink:category biolink:Gene . OMIM:600586 a owl:Class ; @@ -124482,25 +127780,27 @@ OMIM:600586 a owl:Class ; IAO:0000142 PMID:17488623, PMID:7665179, PMID:9691182 ; - oboInOwl:hasDbXref UMLS:C1414250 ; oboInOwl:hasExactSynonym "ECT2", "epithelial cell transforming sequence 2 oncogene", "oncogene ect2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1894 ; - skos:exactMatch HGNC_symbol:ECT2 ; + skos:exactMatch UMLS:C1414250, + HGNC:3155, + HGNC_symbol:ECT2 ; biolink:category biolink:Gene . OMIM:600587 a owl:Class ; rdfs:label "POMZP3" ; IAO:0000142 PMID:7789967 ; - oboInOwl:hasDbXref UMLS:C1418753 ; oboInOwl:hasExactSynonym "POMZP3", "pom121/zp3 fusion protein", "pomzp3 fusion protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22932 ; - skos:exactMatch HGNC_symbol:POMZP3 ; + skos:exactMatch UMLS:C1418753, + HGNC:9203, + HGNC_symbol:POMZP3 ; biolink:category biolink:Gene . OMIM:600588 a owl:Class ; @@ -124518,13 +127818,14 @@ OMIM:600589 a owl:Class ; PMID:18804439, PMID:19098903, PMID:3203386 ; - oboInOwl:hasDbXref UMLS:C1420400 ; oboInOwl:hasExactSynonym "SRF", "c-fos serum response element-binding factor", "serum response factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6722 ; - skos:exactMatch HGNC_symbol:SRF ; + skos:exactMatch UMLS:C1420400, + HGNC:11291, + HGNC_symbol:SRF ; biolink:category biolink:Gene . OMIM:600590 a owl:Class ; @@ -124539,7 +127840,6 @@ OMIM:600590 a owl:Class ; PMID:8312365 ; RO:0002525 CHR:9606chr2p23.2 ; RO:0003303 OMIM:617506 ; - oboInOwl:hasDbXref UMLS:C1418820 ; oboInOwl:hasExactSynonym "PPP1CB", "protein phosphatase 1, catalytic subunit, beta isoform", "protein phosphatase 1, catalytic subunit, delta isoform", @@ -124547,7 +127847,9 @@ OMIM:600590 a owl:Class ; "protein phosphatase 1-delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5500 ; - skos:exactMatch HGNC_symbol:PPP1CB ; + skos:exactMatch UMLS:C1418820, + HGNC:9282, + HGNC_symbol:PPP1CB ; biolink:category biolink:Gene . OMIM:600591 a owl:Class ; @@ -124555,7 +127857,6 @@ OMIM:600591 a owl:Class ; IAO:0000142 PMID:27015311, PMID:7715707, PMID:9732265 ; - oboInOwl:hasDbXref UMLS:C1420272 ; oboInOwl:hasExactSynonym "SNAPC1", "pse-binding transcription factor, gamma", "ptf-gamma", @@ -124563,7 +127864,9 @@ OMIM:600591 a owl:Class ; "small nuclear rna-activating protein complex, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6617 ; - skos:exactMatch HGNC_symbol:SNAPC1 ; + skos:exactMatch UMLS:C1420272, + HGNC:11134, + HGNC_symbol:SNAPC1 ; biolink:category biolink:Gene . OMIM:600592 a owl:Class ; @@ -124575,7 +127878,6 @@ OMIM:600592 a owl:Class ; PMID:25342810, PMID:33087936, PMID:7842741 ; - oboInOwl:hasDbXref UMLS:C1334494 ; oboInOwl:hasExactSynonym "MCM7", "cdc47, s. cerevisiae, homolog of", "mcm2, formerly", @@ -124583,7 +127885,9 @@ OMIM:600592 a owl:Class ; "minichromosome maintenance, s. cerevisiae, homolog of, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4176 ; - skos:exactMatch HGNC_symbol:MCM7 ; + skos:exactMatch UMLS:C1334494, + HGNC:6950, + HGNC_symbol:MCM7 ; biolink:category biolink:Gene . OMIM:600595 a owl:Class ; @@ -124603,7 +127907,6 @@ OMIM:600595 a owl:Class ; PMID:7633404, PMID:8191288, PMID:8597639 ; - oboInOwl:hasDbXref UMLS:C1825572 ; oboInOwl:hasExactSynonym "IFT88", "d13s1056e", "daf19, c. elegans, homolog of", @@ -124614,19 +127917,22 @@ OMIM:600595 a owl:Class ; "tg737, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8100 ; - skos:exactMatch HGNC_symbol:IFT88 ; + skos:exactMatch UMLS:C1825572, + HGNC:20606, + HGNC_symbol:IFT88 ; biolink:category biolink:Gene . OMIM:600596 a owl:Class ; rdfs:label "MFAP4" ; IAO:0000142 PMID:7633408, PMID:8117283 ; - oboInOwl:hasDbXref UMLS:C1417129 ; oboInOwl:hasExactSynonym "MFAP4", "microfibrillar-associated protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4239 ; - skos:exactMatch HGNC_symbol:MFAP4 ; + skos:exactMatch UMLS:C1417129, + HGNC:7035, + HGNC_symbol:MFAP4 ; biolink:category biolink:Gene . OMIM:600597 a owl:Class ; @@ -124634,22 +127940,23 @@ OMIM:600597 a owl:Class ; IAO:0000142 PMID:16952428, PMID:21757756, PMID:7633416 ; - oboInOwl:hasDbXref UMLS:C1418638 ; oboInOwl:hasExactSynonym "PLCL1", "phospholipase c deleted 1n lung carcinoma", "phospholipase c-like 1", "phospholipase c-related catalytically inactive protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5334 ; - skos:exactMatch HGNC_symbol:PLCL1 ; + skos:exactMatch UMLS:C1418638, + HGNC:9063, + HGNC_symbol:PLCL1 ; biolink:category biolink:Gene . OMIM:600598 a owl:Class ; rdfs:label "setting-sun phenomenon, familial benign" ; IAO:0000142 PMID:1158051, PMID:7634542 ; - oboInOwl:hasDbXref UMLS:C1833577 ; - oboInOwl:hasExactSynonym "setting-sun phenomenon, familial benign" . + oboInOwl:hasExactSynonym "setting-sun phenomenon, familial benign" ; + skos:exactMatch UMLS:C1833577 . OMIM:600599 a owl:Class ; rdfs:label "KLF1" ; @@ -124670,13 +127977,14 @@ OMIM:600599 a owl:Class ; PMID:9778250 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:613566 ; - oboInOwl:hasDbXref UMLS:C1416657 ; oboInOwl:hasExactSynonym "KLF1", "erythroid kruppel-like factor", "kruppel-like factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10661 ; - skos:exactMatch HGNC_symbol:KLF1 ; + skos:exactMatch UMLS:C1416657, + HGNC:6345, + HGNC_symbol:KLF1 ; biolink:category biolink:Gene . OMIM:600601 a owl:Class ; @@ -124703,14 +128011,15 @@ OMIM:600605 a owl:Class ; PMID:7753840, PMID:8597643, PMID:8660965 ; - oboInOwl:hasDbXref UMLS:C1417487 ; oboInOwl:hasExactSynonym "MTX1", "metaxin 1", "mtx", "mtxn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4580 ; - skos:exactMatch HGNC_symbol:MTX1 ; + skos:exactMatch UMLS:C1417487, + HGNC:7504, + HGNC_symbol:MTX1 ; biolink:category biolink:Gene . OMIM:600606 a owl:Class ; @@ -124721,7 +128030,6 @@ OMIM:600607 a owl:Class ; IAO:0000142 PMID:11716785, PMID:15647280, PMID:7702631 ; - oboInOwl:hasDbXref UMLS:C1823645 ; oboInOwl:hasExactSynonym "VPS72", "transcription factor-like 1", "transformation suppressor gene yl-1", @@ -124729,7 +128037,9 @@ OMIM:600607 a owl:Class ; "vacuolar protein sorting 72, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6944 ; - skos:exactMatch HGNC_symbol:VPS72 ; + skos:exactMatch UMLS:C1823645, + HGNC:11644, + HGNC_symbol:VPS72 ; biolink:category biolink:Gene . OMIM:600608 a owl:Class ; @@ -124742,13 +128052,14 @@ OMIM:600608 a owl:Class ; PMID:9211872 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:617238 ; - oboInOwl:hasDbXref UMLS:C1418223 ; oboInOwl:hasExactSynonym "P4HA2", "procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 2", "prolyl 4-hydroxylase, alpha-2 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8974 ; - skos:exactMatch HGNC_symbol:P4HA2 ; + skos:exactMatch UMLS:C1418223, + HGNC:8547, + HGNC_symbol:P4HA2 ; biolink:category biolink:Gene . OMIM:600609 a owl:Class ; @@ -124764,7 +128075,6 @@ OMIM:600609 a owl:Class ; PMID:8108407, PMID:8441384, PMID:8543189 ; - oboInOwl:hasDbXref UMLS:C1414905 ; oboInOwl:hasExactSynonym "GABPA", "adenovirus e4 gene transcription factor, 60-kd subunit", "e4tf1-60", @@ -124773,7 +128083,9 @@ OMIM:600609 a owl:Class ; "nuclear respiratory factor 2, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2551 ; - skos:exactMatch HGNC_symbol:GABPA ; + skos:exactMatch UMLS:C1414905, + HGNC:4071, + HGNC_symbol:GABPA ; biolink:category biolink:Gene . OMIM:600611 a owl:Class ; @@ -124785,13 +128097,14 @@ OMIM:600611 a owl:Class ; PMID:17571166, PMID:20442138, PMID:20605780 ; - oboInOwl:hasDbXref UMLS:C1414626 ; oboInOwl:hasExactSynonym "FKBP4", "fk506-binding protein 4", "t-cell fk506-binding protein, 59-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2288 ; - skos:exactMatch HGNC_symbol:FKBP4 ; + skos:exactMatch UMLS:C1414626, + HGNC:3720, + HGNC_symbol:FKBP4 ; biolink:category biolink:Gene . OMIM:600612 a owl:Class ; @@ -124805,7 +128118,6 @@ OMIM:600613 a owl:Class ; PMID:8306325, PMID:8385338, PMID:8703135 ; - oboInOwl:hasDbXref UMLS:C0919442 ; oboInOwl:hasExactSynonym "NBL1", "d1s1733e", "differential screening-selected gene aberrant 1n neuroblastoma", @@ -124813,7 +128125,9 @@ OMIM:600613 a owl:Class ; "neuroblastoma candidate region, suppression of tumorigenicity 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4681 ; - skos:exactMatch HGNC_symbol:NBL1 ; + skos:exactMatch UMLS:C0919442, + HGNC:7650, + HGNC_symbol:NBL1 ; biolink:category biolink:Gene . OMIM:600614 a owl:Class ; @@ -124821,12 +128135,13 @@ OMIM:600614 a owl:Class ; IAO:0000142 PMID:15632002, PMID:1633809, PMID:7759097 ; - oboInOwl:hasDbXref UMLS:C1335799 ; oboInOwl:hasExactSynonym "S100P", "s100 calcium-binding protein p" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6286 ; - skos:exactMatch HGNC_symbol:S100P ; + skos:exactMatch UMLS:C1335799, + HGNC:10504, + HGNC_symbol:S100P ; biolink:category biolink:Gene . OMIM:600615 a owl:Class ; @@ -124834,13 +128149,14 @@ OMIM:600615 a owl:Class ; IAO:0000142 PMID:12194966, PMID:12523890, PMID:7534301 ; - oboInOwl:hasDbXref UMLS:C1416835 ; oboInOwl:hasExactSynonym "LGALS7", "galectin 7", "lectin, galactoside-binding, soluble, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3963 ; - skos:exactMatch HGNC_symbol:LGALS7 ; + skos:exactMatch UMLS:C1416835, + HGNC:6568, + HGNC_symbol:LGALS7 ; biolink:category biolink:Gene . OMIM:600616 a owl:Class ; @@ -124850,13 +128166,14 @@ OMIM:600616 a owl:Class ; PMID:7558030, PMID:7626890, PMID:7665616 ; - oboInOwl:hasDbXref UMLS:C1416936 ; oboInOwl:hasExactSynonym "LUM", "ldc", "lumican" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4060 ; - skos:exactMatch HGNC_symbol:LUM ; + skos:exactMatch UMLS:C1416936, + HGNC:6724, + HGNC_symbol:LUM ; biolink:category biolink:Gene . OMIM:600617 a owl:Class ; @@ -124882,13 +128199,14 @@ OMIM:600617 a owl:Class ; PMID:9326645 ; RO:0002525 CHR:9606chr8p11.23 ; RO:0003303 OMIM:201710 ; - oboInOwl:hasDbXref UMLS:C1420453 ; oboInOwl:hasExactSynonym "STAR", "start domain-containing protein 1", "steroidogenic acute regulatory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6770 ; - skos:exactMatch HGNC_symbol:STAR ; + skos:exactMatch UMLS:C1420453, + HGNC:11359, + HGNC_symbol:STAR ; biolink:category biolink:Gene . OMIM:600618 a owl:Class ; @@ -124931,9 +128249,6 @@ OMIM:600618 a owl:Class ; PMID:9694803 ; RO:0002525 CHR:9606chr12p13.2 ; RO:0003303 OMIM:616216 ; - oboInOwl:hasDbXref UMLS:C0796520, - UMLS:C4015537, - UMLS:C4015936 ; oboInOwl:hasExactSynonym "ETV6", "ets variant gene 6", "ets variant transcription factor 6", @@ -124953,7 +128268,11 @@ OMIM:600618 a owl:Class ; "translocation, ets, leukemia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2120 ; - skos:exactMatch HGNC_symbol:ETV6 ; + skos:exactMatch UMLS:C0796520, + UMLS:C4015537, + UMLS:C4015936, + HGNC:3495, + HGNC_symbol:ETV6 ; biolink:category biolink:Gene . OMIM:600619 a owl:Class ; @@ -124969,7 +128288,6 @@ OMIM:600620 a owl:Class ; PMID:15073377, PMID:15336974, PMID:7513996 ; - oboInOwl:hasDbXref UMLS:C1414619 ; oboInOwl:hasExactSynonym "FKBP1B", "calstabin 2", "fk506-binding protein 1-like", @@ -124977,7 +128295,9 @@ OMIM:600620 a owl:Class ; "fk506-binding protein, 12.6-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2281 ; - skos:exactMatch HGNC_symbol:FKBP1B ; + skos:exactMatch UMLS:C1414619, + HGNC:3712, + HGNC_symbol:FKBP1B ; biolink:category biolink:Gene . OMIM:600621 a owl:Class ; @@ -124988,7 +128308,6 @@ OMIM:600621 a owl:Class ; PMID:3272176, PMID:7871435, PMID:8288240 ; - oboInOwl:hasDbXref UMLS:C1419850 ; oboInOwl:hasExactSynonym "STMN2", "neuronal growth-associated protein scg10", "stathmin-like 2", @@ -124996,7 +128315,9 @@ OMIM:600621 a owl:Class ; "superior cervical ganglion 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11075 ; - skos:exactMatch HGNC_symbol:STMN2 ; + skos:exactMatch UMLS:C1419850, + HGNC:10577, + HGNC_symbol:STMN2 ; biolink:category biolink:Gene . OMIM:600622 a owl:Class ; @@ -125013,7 +128334,6 @@ OMIM:600626 a owl:Class ; PMID:8390986, PMID:8454062, PMID:9013622 ; - oboInOwl:hasDbXref UMLS:C1334335 ; oboInOwl:hasExactSynonym "LGALS3BP", "l3 antigen", "lectin, galactoside-binding, soluble, 3 binding protein", @@ -125021,7 +128341,9 @@ OMIM:600626 a owl:Class ; "serum protein 90k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3959 ; - skos:exactMatch HGNC_symbol:LGALS3BP ; + skos:exactMatch UMLS:C1334335, + HGNC:6564, + HGNC_symbol:LGALS3BP ; biolink:category biolink:Gene . OMIM:600628 a owl:Class ; @@ -125031,19 +128353,20 @@ OMIM:600628 a owl:Class ; PMID:2915059, PMID:2915060, PMID:7628125 ; - oboInOwl:hasDbXref UMLS:C0406468 ; - oboInOwl:hasExactSynonym "loose anagen hair syndrome" . + oboInOwl:hasExactSynonym "loose anagen hair syndrome" ; + skos:exactMatch UMLS:C0406468 . OMIM:600629 a owl:Class ; rdfs:label "HLA-DOB" ; IAO:0000142 PMID:7762558 ; - oboInOwl:hasDbXref UMLS:C1415566 ; oboInOwl:hasExactSynonym "HLA-DOB", "hla-do histocompatibility type, beta chain", "major histocompatibility complex, class ii, do beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3112 ; - skos:exactMatch HGNC_symbol:HLA-DOB ; + skos:exactMatch UMLS:C1415566, + HGNC:4937, + HGNC_symbol:HLA-DOB ; biolink:category biolink:Gene . OMIM:600630 a owl:Class ; @@ -125054,10 +128377,10 @@ OMIM:600630 a owl:Class ; PMID:7762548, PMID:8763445, PMID:9777763 ; - oboInOwl:hasDbXref UMLS:C3551173 ; oboInOwl:hasExactSynonym "UVSS1", "uv-sensitive syndrome 1" ; rdfs:subClassOf OMIMPS:600630 ; + skos:exactMatch UMLS:C3551173 ; biolink:category biolink:Disease . OMIM:600632 a owl:Class ; @@ -125070,7 +128393,6 @@ OMIM:600632 a owl:Class ; PMID:9826475 ; RO:0002525 CHR:9606chr11q25 ; RO:0003303 OMIM:167000 ; - oboInOwl:hasDbXref UMLS:C1417956 ; oboInOwl:hasExactSynonym "OPCML", "iglon1", "obcam", @@ -125078,7 +128400,9 @@ OMIM:600632 a owl:Class ; "opioid-binding protein/cell adhesion molecule-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4978 ; - skos:exactMatch HGNC_symbol:OPCML ; + skos:exactMatch UMLS:C1417956, + HGNC:8143, + HGNC_symbol:OPCML ; biolink:category biolink:Gene . OMIM:600633 a owl:Class ; @@ -125096,13 +128420,14 @@ OMIM:600633 a owl:Class ; PMID:8940297, PMID:9070946, PMID:9072957 ; - oboInOwl:hasDbXref UMLS:C1420702 ; oboInOwl:hasExactSynonym "TFF3", "intestinal trefoil factor", "trefoil factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7033 ; - skos:exactMatch HGNC_symbol:TFF3 ; + skos:exactMatch UMLS:C1420702, + HGNC:11757, + HGNC_symbol:TFF3 ; biolink:category biolink:Gene . OMIM:600634 a owl:Class ; @@ -125111,8 +128436,8 @@ OMIM:600634 a owl:Class ; PMID:17244780, PMID:7621566 ; IAO:0100001 OMIM:102200 ; - oboInOwl:hasDbXref UMLS:C0033375 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C0033375 . OMIM:600635 a owl:Class ; rdfs:label "NKX2-1" ; @@ -125145,7 +128470,6 @@ OMIM:600635 a owl:Class ; PMID:9565498 ; RO:0002525 CHR:9606chr14q13.3 ; RO:0003303 OMIM:188550 ; - oboInOwl:hasDbXref UMLS:C1384616 ; oboInOwl:hasExactSynonym "NKX2-1", "nk2 homeobox 1", "nk2, drosophila, homolog of, a", @@ -125156,7 +128480,9 @@ OMIM:600635 a owl:Class ; "ttf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7080 ; - skos:exactMatch HGNC_symbol:NKX2-1 ; + skos:exactMatch UMLS:C1384616, + HGNC:11825, + HGNC_symbol:NKX2-1 ; biolink:category biolink:Gene . OMIM:600636 a owl:Class ; @@ -125198,7 +128524,6 @@ OMIM:600636 a owl:Class ; PMID:9021152, PMID:9512515, PMID:9660939 ; - oboInOwl:hasDbXref UMLS:C1413132 ; oboInOwl:hasExactSynonym "CASP3", "apopain", "caspase 3, apoptosis-related cysteine protease", @@ -125207,20 +128532,23 @@ OMIM:600636 a owl:Class ; "yama" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:836 ; - skos:exactMatch HGNC_symbol:CASP3 ; + skos:exactMatch UMLS:C1413132, + HGNC:1504, + HGNC_symbol:CASP3 ; biolink:category biolink:Gene . OMIM:600637 a owl:Class ; rdfs:label "SLC1A6" ; IAO:0000142 PMID:11242047, PMID:7791878 ; - oboInOwl:hasDbXref UMLS:C1420124 ; oboInOwl:hasExactSynonym "SLC1A6", "excitatory amino acid transporter 4", "solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6511 ; - skos:exactMatch HGNC_symbol:SLC1A6 ; + skos:exactMatch UMLS:C1420124, + HGNC:10944, + HGNC_symbol:SLC1A6 ; biolink:category biolink:Gene . OMIM:600639 a owl:Class ; @@ -125237,14 +128565,15 @@ OMIM:600639 a owl:Class ; PMID:8087842, PMID:8780721, PMID:9573047 ; - oboInOwl:hasDbXref UMLS:C1332662 ; oboInOwl:hasExactSynonym "CASP2", "caspase 2, apoptosis-related cysteine protease", "ice and ced3 homolog 1", "neural precursor cell expressed, developmentally downregulated 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:835 ; - skos:exactMatch HGNC_symbol:CASP2 ; + skos:exactMatch UMLS:C1332662, + HGNC:1503, + HGNC_symbol:CASP2 ; biolink:category biolink:Gene . OMIM:600640 a owl:Class ; @@ -125264,13 +128593,14 @@ OMIM:600641 a owl:Class ; PMID:8661000, PMID:8912648, PMID:9034160 ; - oboInOwl:hasDbXref UMLS:C1420516 ; oboInOwl:hasExactSynonym "SULT1A3", "sulfotransferase family 1a, cytosolic, phenol-preferring, member 3", "sulfotransferase, monoamine-preferring" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6818 ; - skos:exactMatch HGNC_symbol:SULT1A3 ; + skos:exactMatch UMLS:C1420516, + HGNC:11455, + HGNC_symbol:SULT1A3 ; biolink:category biolink:Gene . OMIM:600643 a owl:Class ; @@ -125280,8 +128610,8 @@ OMIM:600643 a owl:Class ; PMID:5656335, PMID:5902263, PMID:7672768 ; - oboInOwl:hasDbXref UMLS:C1833541 ; - oboInOwl:hasExactSynonym "caroli disease, isolated" . + oboInOwl:hasExactSynonym "caroli disease, isolated" ; + skos:exactMatch UMLS:C1833541 . OMIM:600645 a owl:Class ; IAO:0100001 OMIM:600579 ; @@ -125302,7 +128632,6 @@ OMIM:600646 a owl:Class ; PMID:7647473, PMID:7929370, PMID:8449997 ; - oboInOwl:hasDbXref UMLS:C1418944 ; oboInOwl:hasExactSynonym "PROCR", "ccd41", "cell cycle, centrosome-associated protein", @@ -125310,7 +128639,9 @@ OMIM:600646 a owl:Class ; "protein c receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10544 ; - skos:exactMatch HGNC_symbol:PROCR ; + skos:exactMatch UMLS:C1418944, + HGNC:9452, + HGNC_symbol:PROCR ; biolink:category biolink:Gene . OMIM:600647 a owl:Class ; @@ -125320,14 +128651,15 @@ OMIM:600647 a owl:Class ; PMID:15363417, PMID:7647458, PMID:7914353 ; - oboInOwl:hasDbXref UMLS:C1415623 ; oboInOwl:hasExactSynonym "HMX2", "h6 family homeobox 2", "homeobox gene h6-like", "nkx5.2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3167 ; - skos:exactMatch HGNC_symbol:HMX2 ; + skos:exactMatch UMLS:C1415623, + HGNC:5018, + HGNC_symbol:HMX2 ; biolink:category biolink:Gene . OMIM:600648 a owl:Class ; @@ -125344,12 +128676,12 @@ OMIM:600649 a owl:Class ; PMID:1999498, PMID:8651281, PMID:8682496 ; - oboInOwl:hasDbXref UMLS:C1833511 ; oboInOwl:hasExactSynonym "carnitine palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia", "carnitine palmitoyltransferase 2 deficiency, hepatocardiomuscular", "carnitine palmitoyltransferase 2 deficiency, infantile", "cpt 2 deficiency, hepatic", "cpt2 deficiency, infantile" ; + skos:exactMatch UMLS:C1833511 ; biolink:category biolink:Disease . OMIM:600650 a owl:Class ; @@ -125387,21 +128719,22 @@ OMIM:600650 a owl:Class ; PMID:8888280 ; RO:0002525 CHR:9606chr1p32.3 ; RO:0003303 OMIM:614212 ; - oboInOwl:hasDbXref UMLS:C1413690 ; oboInOwl:hasExactSynonym "CPT2", "carnitine palmitoyltransferase 2", "cpt 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1376 ; - skos:exactMatch HGNC_symbol:CPT2 ; + skos:exactMatch UMLS:C1413690, + HGNC:2330, + HGNC_symbol:CPT2 ; biolink:category biolink:Gene . OMIM:600651 a owl:Class ; rdfs:label "fragile site 11b" ; IAO:0000142 PMID:7603564 ; - oboInOwl:hasDbXref UMLS:C1414701 ; oboInOwl:hasExactSynonym "FRA11B", "fragile site 11b" ; + skos:exactMatch UMLS:C1414701 ; biolink:category biolink:Disease . OMIM:600653 a owl:Class ; @@ -125416,7 +128749,6 @@ OMIM:600654 a owl:Class ; PMID:8051173, PMID:8269930, PMID:9344661 ; - oboInOwl:hasDbXref UMLS:C1419041 ; oboInOwl:hasExactSynonym "PSME1", "interferon-gamma-inducible protein 5111", "mcp activator, 29-kd subunit", @@ -125425,7 +128757,9 @@ OMIM:600654 a owl:Class ; "proteasome activator subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5720 ; - skos:exactMatch HGNC_symbol:PSME1 ; + skos:exactMatch UMLS:C1419041, + HGNC:9568, + HGNC_symbol:PSME1 ; biolink:category biolink:Gene . OMIM:600656 a owl:Class ; @@ -125444,13 +128778,14 @@ OMIM:600658 a owl:Class ; PMID:7925273, PMID:8561788, PMID:8666404 ; - oboInOwl:hasDbXref UMLS:C1418852 ; oboInOwl:hasExactSynonym "PPP5C", "pp5", "protein phosphatase 5, catalytic subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5536 ; - skos:exactMatch HGNC_symbol:PPP5C ; + skos:exactMatch UMLS:C1418852, + HGNC:9322, + HGNC_symbol:PPP5C ; biolink:category biolink:Gene . OMIM:600659 a owl:Class ; @@ -125464,12 +128799,13 @@ OMIM:600659 a owl:Class ; PMID:23222641, PMID:7892279, PMID:7958924 ; - oboInOwl:hasDbXref UMLS:C1414227 ; oboInOwl:hasExactSynonym "E2F4", "e2f transcription factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1874 ; - skos:exactMatch HGNC_symbol:E2F4 ; + skos:exactMatch UMLS:C1414227, + HGNC:3118, + HGNC_symbol:E2F4 ; biolink:category biolink:Gene . OMIM:600660 a owl:Class ; @@ -125500,12 +128836,13 @@ OMIM:600660 a owl:Class ; PMID:8697817 ; RO:0002525 CHR:9606chr15q26.3 ; RO:0003303 OMIM:608320 ; - oboInOwl:hasDbXref UMLS:C1417099 ; oboInOwl:hasExactSynonym "MEF2A", "mads box transcription enhancer factor 2, polypeptide a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4205 ; - skos:exactMatch HGNC_symbol:MEF2A ; + skos:exactMatch UMLS:C1417099, + HGNC:6993, + HGNC_symbol:MEF2A ; biolink:category biolink:Gene . OMIM:600661 a owl:Class ; @@ -125518,12 +128855,13 @@ OMIM:600661 a owl:Class ; PMID:1748287, PMID:21796119, PMID:8575763 ; - oboInOwl:hasDbXref UMLS:C1417101 ; oboInOwl:hasExactSynonym "MEF2B", "mads box transcription enhancer factor 2, polypeptide B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100271849 ; - skos:exactMatch HGNC_symbol:MEF2B ; + skos:exactMatch UMLS:C1417101, + HGNC:6995, + HGNC_symbol:MEF2B ; biolink:category biolink:Gene . OMIM:600662 a owl:Class ; @@ -125552,12 +128890,13 @@ OMIM:600662 a owl:Class ; PMID:9162005 ; RO:0002525 CHR:9606chr5q14.3 ; RO:0003303 OMIM:613443 ; - oboInOwl:hasDbXref UMLS:C1417102 ; oboInOwl:hasExactSynonym "MEF2C", "mads box transcription enhancer factor 2, polypeptide c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4208 ; - skos:exactMatch HGNC_symbol:MEF2C ; + skos:exactMatch UMLS:C1417102, + HGNC:6996, + HGNC_symbol:MEF2C ; biolink:category biolink:Gene . OMIM:600663 a owl:Class ; @@ -125570,12 +128909,13 @@ OMIM:600663 a owl:Class ; PMID:8269842, PMID:8575763, PMID:8614558 ; - oboInOwl:hasDbXref UMLS:C1417103 ; oboInOwl:hasExactSynonym "MEF2D", "mads box transcription enhancer factor 2, polypeptide d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4209 ; - skos:exactMatch HGNC_symbol:MEF2D ; + skos:exactMatch UMLS:C1417103, + HGNC:6997, + HGNC_symbol:MEF2D ; biolink:category biolink:Gene . OMIM:600664 a owl:Class ; @@ -125617,8 +128957,6 @@ OMIM:600664 a owl:Class ; PMID:9813230 ; RO:0002525 CHR:9606chr10q24.31 ; RO:0003303 OMIM:619339 ; - oboInOwl:hasDbXref UMLS:C1413419, - UMLS:C3150891 ; oboInOwl:hasExactSynonym "CHUK", "component of nuclear factor kappa-b kinase complex", "conserved helix-loop-helix ubiquitous kinase", @@ -125629,7 +128967,10 @@ OMIM:600664 a owl:Class ; "nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor, kinase of, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1147 ; - skos:exactMatch HGNC_symbol:CHUK ; + skos:exactMatch UMLS:C1413419, + UMLS:C3150891, + HGNC:1974, + HGNC_symbol:CHUK ; biolink:category biolink:Gene . OMIM:600665 a owl:Class ; @@ -125644,13 +128985,14 @@ OMIM:600665 a owl:Class ; PMID:8548792, PMID:8988899, PMID:9920102 ; - oboInOwl:hasDbXref UMLS:C1417449 ; oboInOwl:hasExactSynonym "MTNR1A", "melatonin receptor 1a", "mt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4543 ; - skos:exactMatch HGNC_symbol:MTNR1A ; + skos:exactMatch UMLS:C1417449, + HGNC:7463, + HGNC_symbol:MTNR1A ; biolink:category biolink:Gene . OMIM:600667 a owl:Class ; @@ -125664,19 +129006,20 @@ OMIM:600667 a owl:Class ; PMID:8626800 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:164745 ; - oboInOwl:hasDbXref UMLS:C1333584 ; oboInOwl:hasExactSynonym "FZD2", "frizzled class receptor 2", "frizzled, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2535 ; - skos:exactMatch HGNC_symbol:FZD2 ; + skos:exactMatch UMLS:C1333584, + HGNC:4040, + HGNC_symbol:FZD2 ; biolink:category biolink:Gene . OMIM:600670 a owl:Class ; rdfs:label "varicella, severe recurrent" ; - oboInOwl:hasDbXref UMLS:C1833487 ; - oboInOwl:hasExactSynonym "varicella, severe recurrent" . + oboInOwl:hasExactSynonym "varicella, severe recurrent" ; + skos:exactMatch UMLS:C1833487 . OMIM:600671 a owl:Class ; IAO:0100001 OMIM:600594 ; @@ -125701,13 +129044,14 @@ OMIM:600673 a owl:Class ; PMID:9126496 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:617672 ; - oboInOwl:hasDbXref UMLS:C1421307 ; oboInOwl:hasExactSynonym "UBTF", "upstream binding factor", "upstream binding transcription factor (rna polymerase i)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7343 ; - skos:exactMatch HGNC_symbol:UBTF ; + skos:exactMatch UMLS:C1421307, + HGNC:12511, + HGNC_symbol:UBTF ; biolink:category biolink:Gene . OMIM:600674 a owl:Class ; @@ -125716,8 +129060,8 @@ OMIM:600674 a owl:Class ; PMID:19293168, PMID:19759387, PMID:7666397 ; - oboInOwl:hasDbXref UMLS:C1833486 ; oboInOwl:hasExactSynonym "microtia-anotia" ; + skos:exactMatch UMLS:C1833486 ; biolink:category biolink:Disease . OMIM:600675 a owl:Class ; @@ -125734,25 +129078,27 @@ OMIM:600675 a owl:Class ; PMID:9660962 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:613972 ; - oboInOwl:hasDbXref UMLS:C1337032 ; oboInOwl:hasExactSynonym "XRCC3", "x-ray repair cross complementing 3", "x-ray repair, complementing defective, 1n chinese hamster, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7517 ; - skos:exactMatch HGNC_symbol:XRCC3 ; + skos:exactMatch UMLS:C1337032, + HGNC:12830, + HGNC_symbol:XRCC3 ; biolink:category biolink:Gene . OMIM:600676 a owl:Class ; rdfs:label "CATR1" ; IAO:0000142 PMID:10860668, PMID:7604004 ; - oboInOwl:hasDbXref UMLS:C1413145 ; oboInOwl:hasExactSynonym "CATR1", "catr tumorigenic conversion 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:856 ; - skos:exactMatch HGNC_symbol:CATR1 ; + skos:exactMatch UMLS:C1413145, + HGNC:1525, + HGNC_symbol:CATR1 ; biolink:category biolink:Gene . OMIM:600677 a owl:Class ; @@ -125795,24 +129141,25 @@ OMIM:600678 a owl:Class ; PMID:9428522 ; RO:0002525 CHR:9606chr2p16.3 ; RO:0003303 OMIM:608089 ; - oboInOwl:hasDbXref UMLS:C0879393, - UMLS:C1833477, - UMLS:C4015968, - UMLS:C5436807 ; oboInOwl:hasExactSynonym "MSH6", "g/t mismatch-binding protein", "muts homolog 6", "muts, e. coli, homolog of, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2956 ; - skos:exactMatch HGNC_symbol:MSH6 ; + skos:exactMatch UMLS:C0879393, + UMLS:C1833477, + UMLS:C4015968, + UMLS:C5436807, + HGNC:7329, + HGNC_symbol:MSH6 ; biolink:category biolink:Gene . OMIM:600679 a owl:Class ; rdfs:label "dermoid cysts, familial frontonasal" ; IAO:0000142 PMID:5090947 ; - oboInOwl:hasDbXref UMLS:C1833473 ; - oboInOwl:hasExactSynonym "dermoid cysts, familial frontonasal" . + oboInOwl:hasExactSynonym "dermoid cysts, familial frontonasal" ; + skos:exactMatch UMLS:C1833473 . OMIM:600680 a owl:Class ; IAO:0100001 OMIM:256730 ; @@ -125845,7 +129192,6 @@ OMIM:600681 a owl:Class ; PMID:9525859 ; RO:0002525 CHR:9606chr17q24.3 ; RO:0003303 OMIM:609622 ; - oboInOwl:hasDbXref UMLS:C1416584 ; oboInOwl:hasExactSynonym "KCNJ2", "hhirk1", "irk1", @@ -125853,7 +129199,9 @@ OMIM:600681 a owl:Class ; "potassium channel, inwardly rectifying, subfamily j, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3759 ; - skos:exactMatch HGNC_symbol:KCNJ2 ; + skos:exactMatch UMLS:C1416584, + HGNC:6263, + HGNC_symbol:KCNJ2 ; biolink:category biolink:Gene . OMIM:600683 a owl:Class ; @@ -125868,14 +129216,15 @@ OMIM:600684 a owl:Class ; PMID:26221972, PMID:6321340, PMID:7797269 ; - oboInOwl:hasDbXref UMLS:C1416940 ; oboInOwl:hasExactSynonym "LY9", "cd229", "slam family, member 3", "t-lymphocyte surface antigen ly-9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4063 ; - skos:exactMatch HGNC_symbol:LY9 ; + skos:exactMatch UMLS:C1416940, + HGNC:6730, + HGNC_symbol:LY9 ; biolink:category biolink:Gene . OMIM:600685 a owl:Class ; @@ -125889,7 +129238,6 @@ OMIM:600685 a owl:Class ; PMID:8016130, PMID:9020106, PMID:9168958 ; - oboInOwl:hasDbXref UMLS:C1416700 ; oboInOwl:hasExactSynonym "KPNA2", "importin alpha-1", "karyopherin alpha-2", @@ -125898,7 +129246,9 @@ OMIM:600685 a owl:Class ; "srp1-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3838 ; - skos:exactMatch HGNC_symbol:KPNA2 ; + skos:exactMatch UMLS:C1416700, + HGNC:6395, + HGNC_symbol:KPNA2 ; biolink:category biolink:Gene . OMIM:600686 a owl:Class ; @@ -125909,7 +129259,6 @@ OMIM:600686 a owl:Class ; PMID:16929305, PMID:8052633, PMID:9695948 ; - oboInOwl:hasDbXref UMLS:C1416699 ; oboInOwl:hasExactSynonym "KPNA1", "importin alpha-5", "karyopherin alpha-1", @@ -125917,7 +129266,9 @@ OMIM:600686 a owl:Class ; "suppressor of RNA polymerase 1 mutation, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3836 ; - skos:exactMatch HGNC_symbol:KPNA1 ; + skos:exactMatch UMLS:C1416699, + HGNC:6394, + HGNC_symbol:KPNA1 ; biolink:category biolink:Gene . OMIM:600687 a owl:Class ; @@ -125931,12 +129282,13 @@ OMIM:600687 a owl:Class ; PMID:7736788, PMID:7999144, PMID:8595894 ; - oboInOwl:hasDbXref UMLS:C0812248 ; oboInOwl:hasExactSynonym "TIAM1", "t-cell lymphoma invasion and metastasis 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7074 ; - skos:exactMatch HGNC_symbol:TIAM1 ; + skos:exactMatch UMLS:C0812248, + HGNC:11805, + HGNC_symbol:TIAM1 ; biolink:category biolink:Gene . OMIM:600688 a owl:Class ; @@ -125944,13 +129296,14 @@ OMIM:600688 a owl:Class ; IAO:0000142 PMID:10860668, PMID:3182871, PMID:7896805 ; - oboInOwl:hasDbXref UMLS:C1413663 ; oboInOwl:hasExactSynonym "CPA2", "carboxypeptidase a2, pancreatic", "procarboxypeptidase a2, pancreatic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1358 ; - skos:exactMatch HGNC_symbol:CPA2 ; + skos:exactMatch UMLS:C1413663, + HGNC:2297, + HGNC_symbol:CPA2 ; biolink:category biolink:Gene . OMIM:600689 a owl:Class ; @@ -125960,12 +129313,13 @@ OMIM:600689 a owl:Class ; OMIM:600690 a owl:Class ; rdfs:label "TCTA" ; IAO:0000142 PMID:7728759 ; - oboInOwl:hasDbXref UMLS:C1336599 ; oboInOwl:hasExactSynonym "TCTA", "t-cell leukemia translocation-associated gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6988 ; - skos:exactMatch HGNC_symbol:TCTA ; + skos:exactMatch UMLS:C1336599, + HGNC:11692, + HGNC_symbol:TCTA ; biolink:category biolink:Gene . OMIM:600691 a owl:Class ; @@ -125974,7 +129328,6 @@ OMIM:600691 a owl:Class ; PMID:17762044, PMID:7954810, PMID:9671728 ; - oboInOwl:hasDbXref UMLS:C1420163 ; oboInOwl:hasExactSynonym "SLC27A1", "acyl-coa synthetase very long chain family, member 4", "fatty acid transport protein 1", @@ -125982,7 +129335,9 @@ OMIM:600691 a owl:Class ; "solute carrier family 27 (fatty acid transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:376497 ; - skos:exactMatch HGNC_symbol:SLC27A1 ; + skos:exactMatch UMLS:C1420163, + HGNC:10995, + HGNC_symbol:SLC27A1 ; biolink:category biolink:Gene . OMIM:600692 a owl:Class ; @@ -125999,12 +129354,13 @@ OMIM:600692 a owl:Class ; PMID:9107680 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:618435 ; - oboInOwl:hasDbXref UMLS:C1420829 ; oboInOwl:hasExactSynonym "TNNT3", "troponin t3, fast skeletal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7140 ; - skos:exactMatch HGNC_symbol:TNNT3 ; + skos:exactMatch UMLS:C1420829, + HGNC:11950, + HGNC_symbol:TNNT3 ; biolink:category biolink:Gene . OMIM:600693 a owl:Class ; @@ -126021,7 +129377,6 @@ OMIM:600693 a owl:Class ; PMID:29072293, PMID:32581380, PMID:7558043 ; - oboInOwl:hasDbXref UMLS:C1419054 ; oboInOwl:hasExactSynonym "PTBP1", "heterogeneous nuclear ribonucleoprotein polypeptide 1", "hnrnpi", @@ -126029,7 +129384,9 @@ OMIM:600693 a owl:Class ; "ptb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5725 ; - skos:exactMatch HGNC_symbol:PTBP1 ; + skos:exactMatch UMLS:C1419054, + HGNC:9583, + HGNC_symbol:PTBP1 ; biolink:category biolink:Gene . OMIM:600694 a owl:Class ; @@ -126059,26 +129416,28 @@ OMIM:600694 a owl:Class ; PMID:9348227 ; RO:0002525 CHR:9606chr5q11.2 ; RO:0003303 OMIM:619751 ; - oboInOwl:hasDbXref UMLS:C1325331 ; oboInOwl:hasExactSynonym "IL6ST", "gp130 transducer chain", "interleukin 6 signal transducer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3572 ; - skos:exactMatch HGNC_symbol:IL6ST ; + skos:exactMatch UMLS:C1325331, + HGNC:6021, + HGNC_symbol:IL6ST ; biolink:category biolink:Gene . OMIM:600696 a owl:Class ; rdfs:label "ECH1" ; IAO:0000142 PMID:7558027, PMID:9417087 ; - oboInOwl:hasDbXref UMLS:C1414246 ; oboInOwl:hasExactSynonym "ECH1", "delta-3,5-delta-2,4-dienoyl coa isomerase", "enoyl-coa hydratase 1, peroxisomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1891 ; - skos:exactMatch HGNC_symbol:ECH1 ; + skos:exactMatch UMLS:C1414246, + HGNC:3149, + HGNC_symbol:ECH1 ; biolink:category biolink:Gene . OMIM:600697 a owl:Class ; @@ -126086,14 +129445,15 @@ OMIM:600697 a owl:Class ; IAO:0000142 PMID:17355966, PMID:26886794, PMID:7558034 ; - oboInOwl:hasDbXref UMLS:C1419290 ; oboInOwl:hasExactSynonym "RBBP5", "rbq3", "retinoblastoma-binding protein 5", "retinoblastoma-binding protein rbq3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5929 ; - skos:exactMatch HGNC_symbol:RBBP5 ; + skos:exactMatch UMLS:C1419290, + HGNC:9888, + HGNC_symbol:RBBP5 ; biolink:category biolink:Gene . OMIM:600698 a owl:Class ; @@ -126141,8 +129501,6 @@ OMIM:600698 a owl:Class ; PMID:9892177 ; RO:0002525 CHR:9606chr12q14.3 ; RO:0003303 OMIM:618908 ; - oboInOwl:hasDbXref UMLS:C1333906, - UMLS:C5394456 ; oboInOwl:hasExactSynonym "HMGA2", "high mobility group at-hook 2", "high mobility group protein hmgic breakpoint associated with benign lipoma", @@ -126156,7 +129514,10 @@ OMIM:600698 a owl:Class ; "lipo" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8091 ; - skos:exactMatch HGNC_symbol:HMGA2 ; + skos:exactMatch UMLS:C1333906, + UMLS:C5394456, + HGNC:5009, + HGNC_symbol:HMGA2 ; biolink:category biolink:Gene . OMIM:600699 a owl:Class ; @@ -126170,9 +129531,6 @@ OMIM:600700 a owl:Class ; PMID:7670494, PMID:8812423 ; RO:0002525 CHR:9606chr3q27.3-q28 ; - oboInOwl:hasDbXref UMLS:C1416904, - UMLS:C1833458, - UMLS:C1834583 ; oboInOwl:hasExactSynonym "LPP", "lim domain-containing preferred translocation partner 1n lipoma", "lipoma-preferred partner", @@ -126180,7 +129538,11 @@ OMIM:600700 a owl:Class ; "lpp/mll fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4026 ; - skos:exactMatch HGNC_symbol:LPP ; + skos:exactMatch UMLS:C1416904, + UMLS:C1833458, + UMLS:C1834583, + HGNC:6679, + HGNC_symbol:LPP ; biolink:category biolink:Gene . OMIM:600702 a owl:Class ; @@ -126213,27 +129575,28 @@ OMIM:600702 a owl:Class ; PMID:9949206 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:617080 ; - oboInOwl:hasDbXref UMLS:C1419866, - UMLS:C3280415, - UMLS:C3281191, - UMLS:C4310728, - UMLS:C5193056, - UMLS:C5193184 ; oboInOwl:hasExactSynonym "SCN8A", "nav1.6", "sodium channel, voltage-gated, iia viii, alpha subunit", "sodium voltage-gated channel, alpha subunit 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6334 ; - skos:exactMatch HGNC_symbol:SCN8A ; + skos:exactMatch UMLS:C1419866, + UMLS:C3280415, + UMLS:C3281191, + UMLS:C4310728, + UMLS:C5193056, + UMLS:C5193184, + HGNC:10596, + HGNC_symbol:SCN8A ; biolink:category biolink:Gene . OMIM:600703 a owl:Class ; rdfs:label "ribosomal protein s1-like" ; IAO:0000142 PMID:7721096 ; - oboInOwl:hasDbXref UMLS:C1833455 ; oboInOwl:hasExactSynonym "RPS1L", - "ribosomal protein s1-like" . + "ribosomal protein s1-like" ; + skos:exactMatch UMLS:C1833455 . OMIM:600704 a owl:Class ; IAO:0100001 OMIM:300047 ; @@ -126246,16 +129609,16 @@ OMIM:600705 a owl:Class ; PMID:19839037, PMID:6018875, PMID:7573141 ; - oboInOwl:hasDbXref UMLS:C1833454 ; oboInOwl:hasExactSynonym "komuragaeri disease", "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities", - "satoyoshi syndrome" . + "satoyoshi syndrome" ; + skos:exactMatch UMLS:C1833454 . OMIM:600706 a owl:Class ; rdfs:label "proximal myopathy with focal depletion of mitochondria" ; IAO:0000142 PMID:7767093 ; - oboInOwl:hasDbXref UMLS:C1833453 ; - oboInOwl:hasExactSynonym "proximal myopathy with focal depletion of mitochondria" . + oboInOwl:hasExactSynonym "proximal myopathy with focal depletion of mitochondria" ; + skos:exactMatch UMLS:C1833453 . OMIM:600707 a owl:Class ; rdfs:label "SRP9" ; @@ -126265,13 +129628,14 @@ OMIM:600707 a owl:Class ; PMID:7730321, PMID:8196634, PMID:9399828 ; - oboInOwl:hasDbXref UMLS:C1420411 ; oboInOwl:hasExactSynonym "SRP9", "alu RNA binding protein, 9-kd subunit", "signal recognition particle, 9-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6726 ; - skos:exactMatch HGNC_symbol:SRP9 ; + skos:exactMatch UMLS:C1420411, + HGNC:11304, + HGNC_symbol:SRP9 ; biolink:category biolink:Gene . OMIM:600708 a owl:Class ; @@ -126281,13 +129645,14 @@ OMIM:600708 a owl:Class ; PMID:2460823, PMID:8196634, PMID:9399828 ; - oboInOwl:hasDbXref UMLS:C1420407 ; oboInOwl:hasExactSynonym "SRP14", "alu rna-binding protein, 14-kd subunit", "signal recognition particle, 14-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6727 ; - skos:exactMatch HGNC_symbol:SRP14 ; + skos:exactMatch UMLS:C1420407, + HGNC:11299, + HGNC_symbol:SRP14 ; biolink:category biolink:Gene . OMIM:600709 a owl:Class ; @@ -126300,7 +129665,6 @@ OMIM:600709 a owl:Class ; PMID:8812440 ; RO:0002525 CHR:9606chr9q22.31 ; RO:0003303 OMIM:617093 ; - oboInOwl:hasDbXref UMLS:C1415832 ; oboInOwl:hasExactSynonym "IARS1", "iars", "ilers", @@ -126308,7 +129672,9 @@ OMIM:600709 a owl:Class ; "isoleucyl-trna synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3376 ; - skos:exactMatch HGNC_symbol:IARS1 ; + skos:exactMatch UMLS:C1415832, + HGNC:5330, + HGNC_symbol:IARS1 ; biolink:category biolink:Gene . OMIM:600710 a owl:Class ; @@ -126325,8 +129691,6 @@ OMIM:600711 a owl:Class ; PMID:8605035, PMID:8834175, PMID:9858836 ; - oboInOwl:hasDbXref UMLS:C1333362, - UMLS:C3274643 ; oboInOwl:hasExactSynonym "ETV4", "e1a enhancer binding protein", "ets translocation variant 4", @@ -126335,7 +129699,10 @@ OMIM:600711 a owl:Class ; "etv4/ews fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2118 ; - skos:exactMatch HGNC_symbol:ETV4 ; + skos:exactMatch UMLS:C1333362, + UMLS:C3274643, + HGNC:3493, + HGNC_symbol:ETV4 ; biolink:category biolink:Gene . OMIM:600712 a owl:Class ; @@ -126353,13 +129720,14 @@ OMIM:600712 a owl:Class ; PMID:8833161 ; RO:0002525 CHR:9606chr9q21.32 ; RO:0003303 OMIM:616580 ; - oboInOwl:hasDbXref UMLS:C1415645 ; oboInOwl:hasExactSynonym "HNRNPK", "heterogeneous nuclear ribonucleoprotein k", "hnrpk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3190 ; - skos:exactMatch HGNC_symbol:HNRNPK ; + skos:exactMatch UMLS:C1415645, + HGNC:5044, + HGNC_symbol:HNRNPK ; biolink:category biolink:Gene . OMIM:600713 a owl:Class ; @@ -126393,13 +129761,14 @@ OMIM:600713 a owl:Class ; PMID:9543163 ; RO:0002525 CHR:9606chr1q32.2 ; RO:0003303 OMIM:614662 ; - oboInOwl:hasDbXref UMLS:C1415736 ; oboInOwl:hasExactSynonym "11-beta-hydroxysteroid dehydrogenase, iia 1", "HSD11B1", "hsd11l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3290 ; - skos:exactMatch HGNC_symbol:HSD11B1 ; + skos:exactMatch UMLS:C1415736, + HGNC:5208, + HGNC_symbol:HSD11B1 ; biolink:category biolink:Gene . OMIM:600714 a owl:Class ; @@ -126415,7 +129784,6 @@ OMIM:600714 a owl:Class ; PMID:7806236, PMID:8168826, PMID:8390041 ; - oboInOwl:hasDbXref UMLS:C1333257 ; oboInOwl:hasExactSynonym "DUSP1", "cl100", "dual-specificity phosphatase 1", @@ -126423,7 +129791,9 @@ OMIM:600714 a owl:Class ; "protein-tyrosine phosphatase, nonreceptor-type, 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1843 ; - skos:exactMatch HGNC_symbol:DUSP1 ; + skos:exactMatch UMLS:C1333257, + HGNC:3064, + HGNC_symbol:DUSP1 ; biolink:category biolink:Gene . OMIM:600715 a owl:Class ; @@ -126432,12 +129802,13 @@ OMIM:600715 a owl:Class ; PMID:17709521, PMID:23615612, PMID:7852353 ; - oboInOwl:hasDbXref UMLS:C1420722 ; oboInOwl:hasExactSynonym "THBS4", "thrombospondin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7060 ; - skos:exactMatch HGNC_symbol:THBS4 ; + skos:exactMatch UMLS:C1420722, + HGNC:11788, + HGNC_symbol:THBS4 ; biolink:category biolink:Gene . OMIM:600717 a owl:Class ; @@ -126451,12 +129822,13 @@ OMIM:600718 a owl:Class ; OMIM:600719 a owl:Class ; rdfs:label "NOS2B" ; IAO:0000142 PMID:7558036 ; - oboInOwl:hasDbXref UMLS:C1417761 ; oboInOwl:hasExactSynonym "NOS2B", "nitric oxide synthase 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201288 ; - skos:exactMatch HGNC_symbol:NOS2P2 ; + skos:exactMatch UMLS:C1417761, + HGNC:7874, + HGNC_symbol:NOS2P2 ; biolink:category biolink:Gene . OMIM:600722 a owl:Class ; @@ -126485,19 +129857,19 @@ OMIM:600722 a owl:Class ; PMID:9664077 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:256730 ; - oboInOwl:hasDbXref UMLS:C1418854 ; oboInOwl:hasExactSynonym "PPT1", "palmitoyl-protein thioesterase", "palmitoyl-protein thioesterase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5538 ; - skos:exactMatch HGNC_symbol:PPT1 ; + skos:exactMatch UMLS:C1418854, + HGNC:9325, + HGNC_symbol:PPT1 ; biolink:category biolink:Gene . OMIM:600723 a owl:Class ; rdfs:label "MPP2" ; IAO:0000142 PMID:7590743 ; - oboInOwl:hasDbXref UMLS:C1334526 ; oboInOwl:hasExactSynonym "MPP2", "discs large a, drosophila, homolog of", "discs large, homolog 2, formerly", @@ -126505,7 +129877,9 @@ OMIM:600723 a owl:Class ; "membrane protein, palmitoylated 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4355 ; - skos:exactMatch HGNC_symbol:MPP2 ; + skos:exactMatch UMLS:C1334526, + HGNC:7220, + HGNC_symbol:MPP2 ; biolink:category biolink:Gene . OMIM:600725 a owl:Class ; @@ -126626,13 +130000,14 @@ OMIM:600725 a owl:Class ; PMID:9731532 ; RO:0002525 CHR:9606chr7q36.3 ; RO:0003303 OMIM:147250 ; - oboInOwl:hasDbXref UMLS:C1335824 ; oboInOwl:hasExactSynonym "SHH", "sonic hedgehog", "sonic hedgehog signaling molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6469 ; - skos:exactMatch HGNC_symbol:SHH ; + skos:exactMatch UMLS:C1335824, + HGNC:10848, + HGNC_symbol:SHH ; biolink:category biolink:Gene . OMIM:600726 a owl:Class ; @@ -126677,13 +130052,14 @@ OMIM:600726 a owl:Class ; PMID:9186520 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:112500 ; - oboInOwl:hasDbXref UMLS:C1416377 ; oboInOwl:hasExactSynonym "IHH", "indian hedgehog", "indian hedgehog signaling molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3549 ; - skos:exactMatch HGNC_symbol:IHH ; + skos:exactMatch UMLS:C1416377, + HGNC:5956, + HGNC_symbol:IHH ; biolink:category biolink:Gene . OMIM:600727 a owl:Class ; @@ -126702,14 +130078,15 @@ OMIM:600727 a owl:Class ; PMID:7590749 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:613735 ; - oboInOwl:hasDbXref UMLS:C1417703 ; oboInOwl:hasExactSynonym "NFIA", "kiaa1439", "nuclear factor i/a", "transcription factor nfia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4774 ; - skos:exactMatch HGNC_symbol:NFIA ; + skos:exactMatch UMLS:C1417703, + HGNC:7784, + HGNC_symbol:NFIA ; biolink:category biolink:Gene . OMIM:600728 a owl:Class ; @@ -126726,13 +130103,14 @@ OMIM:600728 a owl:Class ; PMID:9484777 ; RO:0002525 CHR:9606chr9p23-p22.3 ; RO:0003303 OMIM:618286 ; - oboInOwl:hasDbXref UMLS:C1417704 ; oboInOwl:hasExactSynonym "NFIB", "nuclear factor i/b", "transcription factor nfib" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4781 ; - skos:exactMatch HGNC_symbol:NFIB ; + skos:exactMatch UMLS:C1417704, + HGNC:7785, + HGNC_symbol:NFIB ; biolink:category biolink:Gene . OMIM:600729 a owl:Class ; @@ -126740,21 +130118,21 @@ OMIM:600729 a owl:Class ; IAO:0000142 PMID:12529411, PMID:12568726, PMID:7590749 ; - oboInOwl:hasDbXref UMLS:C1417705 ; oboInOwl:hasExactSynonym "NFIC", "ctf", "nuclear factor i/c", "transcription factor nfic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4782 ; - skos:exactMatch HGNC_symbol:NFIC ; + skos:exactMatch UMLS:C1417705, + HGNC:7786, + HGNC_symbol:NFIC ; biolink:category biolink:Gene . OMIM:600730 a owl:Class ; rdfs:label "NPBWR1" ; IAO:0000142 PMID:12401809, PMID:7590751 ; - oboInOwl:hasDbXref UMLS:C1826461 ; oboInOwl:hasExactSynonym "NPBWR1", "g protein-coupled receptor 7", "neuropeptides B and w receptor 1", @@ -126762,7 +130140,9 @@ OMIM:600730 a owl:Class ; "opioid-somatostatin-like receptor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2831 ; - skos:exactMatch HGNC_symbol:NPBWR1 ; + skos:exactMatch UMLS:C1826461, + HGNC:4522, + HGNC_symbol:NPBWR1 ; biolink:category biolink:Gene . OMIM:600731 a owl:Class ; @@ -126770,25 +130150,27 @@ OMIM:600731 a owl:Class ; IAO:0000142 PMID:12401809, PMID:12644935, PMID:7590751 ; - oboInOwl:hasDbXref UMLS:C1826462 ; oboInOwl:hasExactSynonym "GPR8", "g protein-coupled receptor 8", "opioid-somatostatin-like receptor 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2832 ; - skos:exactMatch HGNC_symbol:NPBWR2 ; + skos:exactMatch UMLS:C1826462, + HGNC:4530, + HGNC_symbol:NPBWR2 ; biolink:category biolink:Gene . OMIM:600732 a owl:Class ; rdfs:label "ARL4D" ; IAO:0000142 PMID:7590735 ; - oboInOwl:hasDbXref UMLS:C1824202 ; oboInOwl:hasExactSynonym "ARL4D", "adp-ribosylation factor 4-like", "adp-ribosylation factor-like gtpase 4d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:379 ; - skos:exactMatch HGNC_symbol:ARL4D ; + skos:exactMatch UMLS:C1824202, + HGNC:656, + HGNC_symbol:ARL4D ; biolink:category biolink:Gene . OMIM:600733 a owl:Class ; @@ -126824,7 +130206,6 @@ OMIM:600733 a owl:Class ; PMID:9649577 ; RO:0002525 CHR:9606chr13q12.2 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1826562 ; oboInOwl:hasExactSynonym "PDX1", "homeodomain transcription factor ipf1", "idx1", @@ -126834,7 +130215,9 @@ OMIM:600733 a owl:Class ; "somatostatin transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3651 ; - skos:exactMatch HGNC_symbol:PDX1 ; + skos:exactMatch UMLS:C1826562, + HGNC:6107, + HGNC_symbol:PDX1 ; biolink:category biolink:Gene . OMIM:600734 a owl:Class ; @@ -126859,7 +130242,6 @@ OMIM:600734 a owl:Class ; PMID:9891030 ; RO:0002525 CHR:9606chr11q24.3 ; RO:0003303 OMIM:613485 ; - oboInOwl:hasDbXref UMLS:C1416587 ; oboInOwl:hasExactSynonym "KCNJ5", "cardiac inward rectifier", "g protein-activated inwardly rectifying potassium channel 4", @@ -126868,27 +130250,30 @@ OMIM:600734 a owl:Class ; "potassium channel, inwardly rectifying, subfamily j, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3762 ; - skos:exactMatch HGNC_symbol:KCNJ5 ; + skos:exactMatch UMLS:C1416587, + HGNC:6266, + HGNC_symbol:KCNJ5 ; biolink:category biolink:Gene . OMIM:600735 a owl:Class ; rdfs:label "IFI35" ; IAO:0000142 PMID:7753812, PMID:8288566 ; - oboInOwl:hasDbXref UMLS:C1415889 ; oboInOwl:hasExactSynonym "IFI35", "interferon-induced protein 35", "interferon-inducible protein, 35-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3430 ; - skos:exactMatch HGNC_symbol:IFI35 ; + skos:exactMatch UMLS:C1415889, + HGNC:5399, + HGNC_symbol:IFI35 ; biolink:category biolink:Gene . OMIM:600736 a owl:Class ; rdfs:label "velofacioskeletal syndrome" ; IAO:0000142 PMID:7573161 ; - oboInOwl:hasDbXref UMLS:C1833380 ; - oboInOwl:hasExactSynonym "velofacioskeletal syndrome" . + oboInOwl:hasExactSynonym "velofacioskeletal syndrome" ; + skos:exactMatch UMLS:C1833380 . OMIM:600738 a owl:Class ; rdfs:label "SELPLG" ; @@ -126903,26 +130288,28 @@ OMIM:600738 a owl:Class ; PMID:7541799, PMID:8639776, PMID:9353122 ; - oboInOwl:hasDbXref UMLS:C1419941 ; oboInOwl:hasExactSynonym "SELPLG", "p-selectin glycoprotein ligand", "psgl1", "selectin p ligand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6404 ; - skos:exactMatch HGNC_symbol:SELPLG ; + skos:exactMatch UMLS:C1419941, + HGNC:10722, + HGNC_symbol:SELPLG ; biolink:category biolink:Gene . OMIM:600739 a owl:Class ; rdfs:label "SHCL1" ; IAO:0000142 PMID:1623525, PMID:7635484 ; - oboInOwl:hasDbXref UMLS:C1420035 ; oboInOwl:hasExactSynonym "SHCL1", "shc-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6466 ; - skos:exactMatch HGNC_symbol:SHC1P2 ; + skos:exactMatch UMLS:C1420035, + HGNC:10842, + HGNC_symbol:SHC1P2 ; biolink:category biolink:Gene . OMIM:600741 a owl:Class ; @@ -126936,13 +130323,14 @@ OMIM:600742 a owl:Class ; PMID:12958365, PMID:17160136, PMID:8530052 ; - oboInOwl:hasDbXref UMLS:C1336625 ; oboInOwl:hasExactSynonym "TGFBR3", "beta-glycan", "transforming growth factor-beta receptor, iia 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7049 ; - skos:exactMatch HGNC_symbol:TGFBR3 ; + skos:exactMatch UMLS:C1336625, + HGNC:11774, + HGNC_symbol:TGFBR3 ; biolink:category biolink:Gene . OMIM:600743 a owl:Class ; @@ -126951,12 +130339,13 @@ OMIM:600743 a owl:Class ; PMID:2123466, PMID:2833704, PMID:8530024 ; - oboInOwl:hasDbXref UMLS:C1420697 ; oboInOwl:hasExactSynonym "TFAP4", "transcription factor ap4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7023 ; - skos:exactMatch HGNC_symbol:TFAP4 ; + skos:exactMatch UMLS:C1420697, + HGNC:11745, + HGNC_symbol:TFAP4 ; biolink:category biolink:Gene . OMIM:600744 a owl:Class ; @@ -126971,25 +130360,27 @@ OMIM:600744 a owl:Class ; PMID:26168401, PMID:32612235, PMID:8530024 ; - oboInOwl:hasDbXref UMLS:C1420699 ; oboInOwl:hasExactSynonym "TFEB", "t-cell transcription factor eb", "tcfeb", "tfeb/alpha fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7942 ; - skos:exactMatch HGNC_symbol:TFEB ; + skos:exactMatch UMLS:C1420699, + HGNC:11753, + HGNC_symbol:TFEB ; biolink:category biolink:Gene . OMIM:600745 a owl:Class ; rdfs:label "APOC4" ; IAO:0000142 PMID:8530039 ; - oboInOwl:hasDbXref UMLS:C1412479 ; oboInOwl:hasExactSynonym "APOC4", "apolipoprotein c-iv" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:346 ; - skos:exactMatch HGNC_symbol:APOC4 ; + skos:exactMatch UMLS:C1412479, + HGNC:611, + HGNC_symbol:APOC4 ; biolink:category biolink:Gene . OMIM:600746 a owl:Class ; @@ -126999,12 +130390,13 @@ OMIM:600746 a owl:Class ; PMID:7585967, PMID:8530027, PMID:8563749 ; - oboInOwl:hasDbXref UMLS:C1413301 ; oboInOwl:hasExactSynonym "CDX1", "caudal-type homeobox transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1044 ; - skos:exactMatch HGNC_symbol:CDX1 ; + skos:exactMatch UMLS:C1413301, + HGNC:1805, + HGNC_symbol:CDX1 ; biolink:category biolink:Gene . OMIM:600747 a owl:Class ; @@ -127024,14 +130416,15 @@ OMIM:600747 a owl:Class ; PMID:9434949 ; RO:0002525 CHR:9606chr17q23.2 ; RO:0003303 OMIM:618223 ; - oboInOwl:hasDbXref UMLS:C1420608, - UMLS:C4748741 ; oboInOwl:hasExactSynonym "TBX2", "t-box 2", "t-box transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6909 ; - skos:exactMatch HGNC_symbol:TBX2 ; + skos:exactMatch UMLS:C1420608, + UMLS:C4748741, + HGNC:11597, + HGNC_symbol:TBX2 ; biolink:category biolink:Gene . OMIM:600748 a owl:Class ; @@ -127041,14 +130434,15 @@ OMIM:600748 a owl:Class ; PMID:8012111, PMID:8530040, PMID:9660918 ; - oboInOwl:hasDbXref UMLS:C1420686 ; oboInOwl:hasExactSynonym "TMBIM6", "bax inhibitor 1", "testis-enhanced gene transcript", "transmembrane bax inhibitor motif-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7009 ; - skos:exactMatch HGNC_symbol:TMBIM6 ; + skos:exactMatch UMLS:C1420686, + HGNC:11723, + HGNC_symbol:TMBIM6 ; biolink:category biolink:Gene . OMIM:600749 a owl:Class ; @@ -127066,14 +130460,15 @@ OMIM:600749 a owl:Class ; PMID:9371821 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:245480 ; - oboInOwl:hasDbXref UMLS:C1332750 ; oboInOwl:hasExactSynonym "CEBPE", "c/ebp-epsilon", "ccaat/enhancer-binding protein, epsilon", "crp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1053 ; - skos:exactMatch HGNC_symbol:CEBPE ; + skos:exactMatch UMLS:C1332750, + HGNC:1836, + HGNC_symbol:CEBPE ; biolink:category biolink:Gene . OMIM:600750 a owl:Class ; @@ -127084,7 +130479,6 @@ OMIM:600750 a owl:Class ; PMID:7695898, PMID:8530029, PMID:8786423 ; - oboInOwl:hasDbXref UMLS:C1417813 ; oboInOwl:hasExactSynonym "NPTX2", "neuronal activity-regulated pentraxin", "neuronal pentraxin 2", @@ -127092,7 +130486,9 @@ OMIM:600750 a owl:Class ; "pentraxin ii, neuronal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4885 ; - skos:exactMatch HGNC_symbol:NPTX2 ; + skos:exactMatch UMLS:C1417813, + HGNC:7953, + HGNC_symbol:NPTX2 ; biolink:category biolink:Gene . OMIM:600751 a owl:Class ; @@ -127104,25 +130500,27 @@ OMIM:600751 a owl:Class ; PMID:17934446, PMID:26429886, PMID:8530048 ; - oboInOwl:hasDbXref UMLS:C1420266 ; oboInOwl:hasExactSynonym "SIGLEC1", "cd169", "sialic acid-binding immunoglobulin-like lectin 1", "sialoadhesin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6614 ; - skos:exactMatch HGNC_symbol:SIGLEC1 ; + skos:exactMatch UMLS:C1420266, + HGNC:11127, + HGNC_symbol:SIGLEC1 ; biolink:category biolink:Gene . OMIM:600752 a owl:Class ; rdfs:label "GPR12" ; IAO:0000142 PMID:8530049 ; - oboInOwl:hasDbXref UMLS:C1415208 ; oboInOwl:hasExactSynonym "GPR12", "g protein-coupled receptor 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2835 ; - skos:exactMatch HGNC_symbol:GPR12 ; + skos:exactMatch UMLS:C1415208, + HGNC:4466, + HGNC_symbol:GPR12 ; biolink:category biolink:Gene . OMIM:600753 a owl:Class ; @@ -127131,14 +130529,15 @@ OMIM:600753 a owl:Class ; PMID:2909545, PMID:8530051, PMID:8985126 ; - oboInOwl:hasDbXref UMLS:C1415102 ; oboInOwl:hasExactSynonym "GLG1", "e-selectin ligand 1, mouse, homolog of", "golgi apparatus protein 1", "golgi sialoglycoprotein mg-160" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2734 ; - skos:exactMatch HGNC_symbol:GLG1 ; + skos:exactMatch UMLS:C1415102, + HGNC:4316, + HGNC_symbol:GLG1 ; biolink:category biolink:Gene . OMIM:600754 a owl:Class ; @@ -127157,7 +130556,6 @@ OMIM:600754 a owl:Class ; PMID:8530054 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:277950 ; - oboInOwl:hasDbXref UMLS:C1417203 ; oboInOwl:hasExactSynonym "MMP14", "matrix metalloproteinase 14", "matrix metalloproteinase 14, membrane-type", @@ -127165,7 +130563,9 @@ OMIM:600754 a owl:Class ; "mt1-mmp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4323 ; - skos:exactMatch HGNC_symbol:MMP14 ; + skos:exactMatch UMLS:C1417203, + HGNC:7160, + HGNC_symbol:MMP14 ; biolink:category biolink:Gene . OMIM:600755 a owl:Class ; @@ -127178,12 +130578,13 @@ OMIM:600755 a owl:Class ; PMID:8964517 ; RO:0002525 CHR:9606chr3p25.2 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1420544 ; oboInOwl:hasExactSynonym "SYN2", "synapsin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6854 ; - skos:exactMatch HGNC_symbol:SYN2 ; + skos:exactMatch UMLS:C1420544, + HGNC:11495, + HGNC_symbol:SYN2 ; biolink:category biolink:Gene . OMIM:600756 a owl:Class ; @@ -127191,7 +130592,6 @@ OMIM:600756 a owl:Class ; IAO:0000142 PMID:16916641, PMID:8530035, PMID:8703017 ; - oboInOwl:hasDbXref UMLS:C1335244 ; oboInOwl:hasExactSynonym "PPP2R4", "phosphotyrosyl phosphatase activator", "pr53", @@ -127199,7 +130599,9 @@ OMIM:600756 a owl:Class ; "protein phosphatase 2a, regulatory subunit b-prime" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5524 ; - skos:exactMatch HGNC_symbol:PTPA ; + skos:exactMatch UMLS:C1335244, + HGNC:9308, + HGNC_symbol:PTPA ; biolink:category biolink:Gene . OMIM:600759 a owl:Class ; @@ -127249,14 +130651,15 @@ OMIM:600759 a owl:Class ; PMID:9813158 ; RO:0002525 CHR:9606chr1q42.13 ; RO:0003303 OMIM:613697 ; - oboInOwl:hasDbXref UMLS:C1418986 ; oboInOwl:hasExactSynonym "PSEN2", "presenilin 2", "ps2", "stm2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5664 ; - skos:exactMatch HGNC_symbol:PSEN2 ; + skos:exactMatch UMLS:C1418986, + HGNC:9509, + HGNC_symbol:PSEN2 ; biolink:category biolink:Gene . OMIM:600760 a owl:Class ; @@ -127286,17 +130689,18 @@ OMIM:600760 a owl:Class ; PMID:9990093 ; RO:0002525 CHR:9606chr16p12.2 ; RO:0003303 OMIM:264350 ; - oboInOwl:hasDbXref UMLS:C0221043, - UMLS:C1419869, - UMLS:C1449843, - UMLS:C2749757 ; oboInOwl:hasExactSynonym "SCNN1B", "sodium channel, epithelial 1, beta subunit", "sodium channel, epithelial, beta subunit", "sodium channel, nonvoltage-gated 1, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6338 ; - skos:exactMatch HGNC_symbol:SCNN1B ; + skos:exactMatch UMLS:C0221043, + UMLS:C1419869, + UMLS:C1449843, + UMLS:C2749757, + HGNC:10600, + HGNC_symbol:SCNN1B ; biolink:category biolink:Gene . OMIM:600761 a owl:Class ; @@ -127318,26 +130722,27 @@ OMIM:600761 a owl:Class ; PMID:8640238 ; RO:0002525 CHR:9606chr16p12.2 ; RO:0003303 OMIM:264350 ; - oboInOwl:hasDbXref UMLS:C1419871, - UMLS:C1449843, - UMLS:C2751324, - UMLS:C4748251 ; oboInOwl:hasExactSynonym "SCNN1G", "sodium channel, epithelial 1, gamma subunit", "sodium channel, epithelial, gamma subunit", "sodium channel, nonvoltage-gated 1, gamma subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6340 ; - skos:exactMatch HGNC_symbol:SCNN1G ; + skos:exactMatch UMLS:C1419871, + UMLS:C1449843, + UMLS:C2751324, + UMLS:C4748251, + HGNC:10602, + HGNC_symbol:SCNN1G ; biolink:category biolink:Gene . OMIM:600762 a owl:Class ; rdfs:label "human papillomavirus e5 central sequence-like 1" ; IAO:0000142 PMID:7581372 ; - oboInOwl:hasDbXref UMLS:C1415711 ; oboInOwl:hasExactSynonym "HPVC1", "human papillomavirus e5 central sequence-like 1", - "papillomavirus e5-like protein" . + "papillomavirus e5-like protein" ; + skos:exactMatch UMLS:C1415711 . OMIM:600763 a owl:Class ; rdfs:label "TPT1" ; @@ -127350,14 +130755,15 @@ OMIM:600763 a owl:Class ; PMID:2479380, PMID:7542803, PMID:8805698 ; - oboInOwl:hasDbXref UMLS:C1420882 ; oboInOwl:hasExactSynonym "TPT1", "histamine-releasing factor, immunoglobulin e-dependent", "translationally controlled tumor protein", "tumor protein, translationally-controlled 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7178 ; - skos:exactMatch HGNC_symbol:TPT1 ; + skos:exactMatch UMLS:C1420882, + HGNC:12022, + HGNC_symbol:TPT1 ; biolink:category biolink:Gene . OMIM:600764 a owl:Class ; @@ -127368,14 +130774,15 @@ OMIM:600764 a owl:Class ; PMID:2911353, PMID:31857486, PMID:7624800 ; - oboInOwl:hasDbXref UMLS:C1415592 ; oboInOwl:hasExactSynonym "MR1", "major histocompatibility complex, class i-like sequence", "major histocompatibility complex, class i-related", "mhc-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3140 ; - skos:exactMatch HGNC_symbol:MR1 ; + skos:exactMatch UMLS:C1415592, + HGNC:4975, + HGNC_symbol:MR1 ; biolink:category biolink:Gene . OMIM:600765 a owl:Class ; @@ -127393,39 +130800,42 @@ OMIM:600767 a owl:Class ; PMID:7543319, PMID:7849400, PMID:9434952 ; - oboInOwl:hasDbXref UMLS:C1415039 ; oboInOwl:hasExactSynonym "GDI2", "gdp-dissociation inhibitor 2", "rab gdi-beta", "rab gdp-dissociation inhibitor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2665 ; - skos:exactMatch HGNC_symbol:GDI2 ; + skos:exactMatch UMLS:C1415039, + HGNC:4227, + HGNC_symbol:GDI2 ; biolink:category biolink:Gene . OMIM:600768 a owl:Class ; rdfs:label "PTPN9" ; IAO:0000142 PMID:1557404 ; - oboInOwl:hasDbXref UMLS:C1419109 ; oboInOwl:hasExactSynonym "PTPN9", "protein-tyrosine phosphatase, nonreceptor-type, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5780 ; - skos:exactMatch HGNC_symbol:PTPN9 ; + skos:exactMatch UMLS:C1419109, + HGNC:9661, + HGNC_symbol:PTPN9 ; biolink:category biolink:Gene . OMIM:600769 a owl:Class ; rdfs:label "TSPAN8" ; IAO:0000142 PMID:20360734, PMID:2395876 ; - oboInOwl:hasDbXref UMLS:C1540088 ; oboInOwl:hasExactSynonym "TSPAN8", "tetraspanin 8", "transmembrane 4 superfamily, member 3", "tumor associated antigen co-029" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7103 ; - skos:exactMatch HGNC_symbol:TSPAN8 ; + skos:exactMatch UMLS:C1540088, + HGNC:11855, + HGNC_symbol:TSPAN8 ; biolink:category biolink:Gene . OMIM:600770 a owl:Class ; @@ -127445,48 +130855,51 @@ OMIM:600770 a owl:Class ; PMID:9804771 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:178500 ; - oboInOwl:hasDbXref UMLS:C1417498 ; oboInOwl:hasExactSynonym "MUC5B", "muc5", "mucin 5, subtype b, tracheobronchial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:727897 ; - skos:exactMatch HGNC_symbol:MUC5B ; + skos:exactMatch UMLS:C1417498, + HGNC:7516, + HGNC_symbol:MUC5B ; biolink:category biolink:Gene . OMIM:600771 a owl:Class ; rdfs:label "dwarfism, familial, with muscle spasms" ; IAO:0000142 PMID:7565047 ; - oboInOwl:hasDbXref UMLS:C1833341 ; oboInOwl:hasExactSynonym "dwarfism, familial, with muscle spasms" ; + skos:exactMatch UMLS:C1833341 ; biolink:category biolink:Disease . OMIM:600772 a owl:Class ; rdfs:label "TAF11" ; IAO:0000142 PMID:7729427, PMID:9695952 ; - oboInOwl:hasDbXref UMLS:C1336561 ; oboInOwl:hasExactSynonym "TAF11", "taf11 RNA polymerase ii, tata box-binding protein-associated factor, 28-kd", "taf2i tbp-associated factor, RNA polymerase ii, 28-kd", "tata box-binding protein-associated factor 2i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6882 ; - skos:exactMatch HGNC_symbol:TAF11 ; + skos:exactMatch UMLS:C1336561, + HGNC:11544, + HGNC_symbol:TAF11 ; biolink:category biolink:Gene . OMIM:600773 a owl:Class ; rdfs:label "TAF12" ; IAO:0000142 PMID:23292512, PMID:7729427 ; - oboInOwl:hasDbXref UMLS:C1336562 ; oboInOwl:hasExactSynonym "TAF12", "taf12 RNA polymerase ii, tata box-binding protein-associated factor, 20-kd", "tata box-binding protein-associated factor 2j", "tbp-associated factor, RNA polymerase ii, 20-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6883 ; - skos:exactMatch HGNC_symbol:TAF12 ; + skos:exactMatch UMLS:C1336562, + HGNC:11545, + HGNC_symbol:TAF12 ; biolink:category biolink:Gene . OMIM:600774 a owl:Class ; @@ -127496,14 +130909,15 @@ OMIM:600774 a owl:Class ; PMID:9695952 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:617432 ; - oboInOwl:hasDbXref UMLS:C1336563 ; oboInOwl:hasExactSynonym "TAF13", "taf13 RNA polymerase ii, tata box-binding protein-associated factor, 18-kd", "tata box-binding protein-associated factor 2k", "tbp-associated factor, RNA polymerase ii, 18-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6884 ; - skos:exactMatch HGNC_symbol:TAF13 ; + skos:exactMatch UMLS:C1336563, + HGNC:11546, + HGNC_symbol:TAF13 ; biolink:category biolink:Gene . OMIM:600776 a owl:Class ; @@ -127515,10 +130929,10 @@ OMIM:600776 a owl:Class ; PMID:8160751, PMID:8533799, PMID:9375920 ; - oboInOwl:hasDbXref UMLS:C1833339 ; oboInOwl:hasExactSynonym "anophthalmia-plus syndrome", "fryns microphthalmia syndrome", - "microphthalmia with facial clefting" . + "microphthalmia with facial clefting" ; + skos:exactMatch UMLS:C1833339 . OMIM:600777 a owl:Class ; rdfs:label "TTF1" ; @@ -127527,12 +130941,13 @@ OMIM:600777 a owl:Class ; PMID:3779844, PMID:7597036, PMID:7720715 ; - oboInOwl:hasDbXref UMLS:C1421218 ; oboInOwl:hasExactSynonym "TTF1", "transcription termination factor, RNA polymerase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7270 ; - skos:exactMatch HGNC_symbol:TTF1 ; + skos:exactMatch UMLS:C1421218, + HGNC:12397, + HGNC_symbol:TTF1 ; biolink:category biolink:Gene . OMIM:600778 a owl:Class ; @@ -127588,14 +131003,15 @@ OMIM:600778 a owl:Class ; PMID:9660939 ; RO:0002525 CHR:9606chr12p13.1 ; RO:0003303 OMIM:610755 ; - oboInOwl:hasDbXref UMLS:C1332737 ; oboInOwl:hasExactSynonym "CDKN1B", "cyclin-dependent kinase inhibitor 1b", "kip1", "p27(kip1)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1027 ; - skos:exactMatch HGNC_symbol:CDKN1B ; + skos:exactMatch UMLS:C1332737, + HGNC:1785, + HGNC_symbol:CDKN1B ; biolink:category biolink:Gene . OMIM:600779 a owl:Class ; @@ -127618,24 +131034,26 @@ OMIM:600781 a owl:Class ; PMID:17934448, PMID:3654598, PMID:7782089 ; - oboInOwl:hasDbXref UMLS:C1419178 ; oboInOwl:hasExactSynonym "PYY", "peptide yy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5697 ; - skos:exactMatch HGNC_symbol:PYY ; + skos:exactMatch UMLS:C1419178, + HGNC:9748, + HGNC_symbol:PYY ; biolink:category biolink:Gene . OMIM:600782 a owl:Class ; rdfs:label "SYT5" ; IAO:0000142 PMID:7597049, PMID:8747928 ; - oboInOwl:hasDbXref UMLS:C1420560 ; oboInOwl:hasExactSynonym "SYT5", "synaptotagmin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6861 ; - skos:exactMatch HGNC_symbol:SYT5 ; + skos:exactMatch UMLS:C1420560, + HGNC:11513, + HGNC_symbol:SYT5 ; biolink:category biolink:Gene . OMIM:600783 a owl:Class ; @@ -127648,8 +131066,6 @@ OMIM:600783 a owl:Class ; PMID:7755634 ; RO:0002525 CHR:9606chr5q31.3 ; RO:0003303 OMIM:614926 ; - oboInOwl:hasDbXref UMLS:C1415474, - UMLS:C3554105 ; oboInOwl:hasExactSynonym "HARS2", "hars-related gene", "histidyl-trna synthetase 2", @@ -127659,7 +131075,10 @@ OMIM:600783 a owl:Class ; "mitochondrial hisrs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23438 ; - skos:exactMatch HGNC_symbol:HARS2 ; + skos:exactMatch UMLS:C1415474, + UMLS:C3554105, + HGNC:4817, + HGNC_symbol:HARS2 ; biolink:category biolink:Gene . OMIM:600784 a owl:Class ; @@ -127668,14 +131087,15 @@ OMIM:600784 a owl:Class ; PMID:8039831, PMID:8133042, PMID:8656064 ; - oboInOwl:hasDbXref UMLS:C1415382 ; oboInOwl:hasExactSynonym "GZMK", "granzyme 3", "granzyme k", "tryptase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3003 ; - skos:exactMatch HGNC_symbol:GZMK ; + skos:exactMatch UMLS:C1415382, + HGNC:4711, + HGNC_symbol:GZMK ; biolink:category biolink:Gene . OMIM:600785 a owl:Class ; @@ -127684,9 +131104,9 @@ OMIM:600785 a owl:Class ; PMID:17071612, PMID:7586652, PMID:8287584 ; - oboInOwl:hasDbXref UMLS:C2748783 ; oboInOwl:hasExactSynonym "VDDR2B", "vitamin d-dependent rickets, iia 2b, with normal vitamin d receptor" ; + skos:exactMatch UMLS:C2748783 ; biolink:category biolink:Disease . OMIM:600786 a owl:Class ; @@ -127696,7 +131116,6 @@ OMIM:600786 a owl:Class ; PMID:7660130, PMID:8586449, PMID:8654961 ; - oboInOwl:hasDbXref UMLS:C1420630 ; oboInOwl:hasExactSynonym "ELOA", "elongin a", "elongin a1", @@ -127705,7 +131124,9 @@ OMIM:600786 a owl:Class ; "transcription elongation factor b, polypeptide 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6924 ; - skos:exactMatch HGNC_symbol:ELOA ; + skos:exactMatch UMLS:C1420630, + HGNC:11620, + HGNC_symbol:ELOA ; biolink:category biolink:Gene . OMIM:600787 a owl:Class ; @@ -127714,14 +131135,15 @@ OMIM:600787 a owl:Class ; PMID:7660122, PMID:7660129, PMID:7660130 ; - oboInOwl:hasDbXref UMLS:C1420629 ; oboInOwl:hasExactSynonym "ELOB", "elongin B", "elongin, 18-kd subunit", "transcription elongation factor b, polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6923 ; - skos:exactMatch HGNC_symbol:ELOB ; + skos:exactMatch UMLS:C1420629, + HGNC:11619, + HGNC_symbol:ELOB ; biolink:category biolink:Gene . OMIM:600788 a owl:Class ; @@ -127731,26 +131153,28 @@ OMIM:600788 a owl:Class ; PMID:7660130, PMID:7821821, PMID:8646875 ; - oboInOwl:hasDbXref UMLS:C1420627 ; oboInOwl:hasExactSynonym "ELOC", "elongin c", "elongin, 15-kd subunit", "transcription elongation factor b, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6921 ; - skos:exactMatch HGNC_symbol:ELOC ; + skos:exactMatch UMLS:C1420627, + HGNC:11617, + HGNC_symbol:ELOC ; biolink:category biolink:Gene . OMIM:600789 a owl:Class ; rdfs:label "RPL23L" ; IAO:0000142 PMID:8541832 ; - oboInOwl:hasDbXref UMLS:C1419646 ; oboInOwl:hasExactSynonym "RPL23L", "l23 mitochondrial-related protein", "ribosomal protein l23-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6150 ; - skos:exactMatch HGNC_symbol:MRPL23 ; + skos:exactMatch UMLS:C1419646, + HGNC:10322, + HGNC_symbol:MRPL23 ; biolink:category biolink:Gene . OMIM:600790 a owl:Class ; @@ -127760,10 +131184,10 @@ OMIM:600790 a owl:Class ; PMID:8541856, PMID:8643244, PMID:9719369 ; - oboInOwl:hasDbXref UMLS:C1833321 ; oboInOwl:hasExactSynonym "PBCRA", "chorioretinal atrophy, progressive bifocal", "progressive bifocal chorioretinal atrophy" ; + skos:exactMatch UMLS:C1833321 ; biolink:category biolink:Disease . OMIM:600793 a owl:Class ; @@ -127784,9 +131208,6 @@ OMIM:600794 a owl:Class ; PMID:8541851, PMID:8872480, PMID:9879677 ; - oboInOwl:hasDbXref UMLS:C1833308, - UMLS:C5399969, - ORPHA:139536 ; oboInOwl:hasExactSynonym "HMN5A", "dhmn 5a", "hmn 5a", @@ -127796,6 +131217,9 @@ OMIM:600794 a owl:Class ; "spinal muscular atrophy, distal, iia 5", "spinal muscular atrophy, distal, iia 5a", "spinal muscular atrophy, distal, with upper limb predominance" ; + skos:exactMatch UMLS:C1833308, + UMLS:C5399969, + ORPHA:139536 ; biolink:category biolink:Disease . OMIM:600796 a owl:Class ; @@ -127803,14 +131227,15 @@ OMIM:600796 a owl:Class ; IAO:0000142 PMID:11602354, PMID:8211113, PMID:8541848 ; - oboInOwl:hasDbXref UMLS:C1419978 ; oboInOwl:hasExactSynonym "SF3A2", "sf3a, 66-kd subunit", "spliceosome-associated protein, 62-kd", "splicing factor 3a, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8175 ; - skos:exactMatch HGNC_symbol:SF3A2 ; + skos:exactMatch UMLS:C1419978, + HGNC:10766, + HGNC_symbol:SF3A2 ; biolink:category biolink:Gene . OMIM:600797 a owl:Class ; @@ -127839,12 +131264,13 @@ OMIM:600797 a owl:Class ; PMID:9495343 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1334141 ; oboInOwl:hasExactSynonym "IRS2", "insulin receptor substrate 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8660 ; - skos:exactMatch HGNC_symbol:IRS2 ; + skos:exactMatch UMLS:C1334141, + HGNC:6126, + HGNC_symbol:IRS2 ; biolink:category biolink:Gene . OMIM:600798 a owl:Class ; @@ -127855,7 +131281,6 @@ OMIM:600798 a owl:Class ; PMID:18703497, PMID:22547693, PMID:7622062 ; - oboInOwl:hasDbXref UMLS:C1419143 ; oboInOwl:hasExactSynonym "NECTIN2", "cd112 antigen", "herpesvirus entry mediator B", @@ -127865,7 +131290,9 @@ OMIM:600798 a owl:Class ; "poliovirus receptor-related 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5819 ; - skos:exactMatch HGNC_symbol:NECTIN2 ; + skos:exactMatch UMLS:C1419143, + HGNC:9707, + HGNC_symbol:NECTIN2 ; biolink:category biolink:Gene . OMIM:600799 a owl:Class ; @@ -127897,12 +131324,13 @@ OMIM:600799 a owl:Class ; PMID:7644468 ; RO:0002525 CHR:9606chr2q33.1-q33.2 ; RO:0003303 OMIM:265450 ; - oboInOwl:hasDbXref UMLS:C1332431 ; oboInOwl:hasExactSynonym "BMPR2", "bone morphogenetic protein receptor, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:659 ; - skos:exactMatch HGNC_symbol:BMPR2 ; + skos:exactMatch UMLS:C1332431, + HGNC:1078, + HGNC_symbol:BMPR2 ; biolink:category biolink:Gene . OMIM:600800 a owl:Class ; @@ -127913,13 +131341,14 @@ OMIM:600800 a owl:Class ; PMID:7624335, PMID:9126479, PMID:9418898 ; - oboInOwl:hasDbXref UMLS:C1417588 ; oboInOwl:hasExactSynonym "NAB1", "egr1-binding protein 1", "ngfia-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4664 ; - skos:exactMatch HGNC_symbol:NAB1 ; + skos:exactMatch UMLS:C1417588, + HGNC:7626, + HGNC_symbol:NAB1 ; biolink:category biolink:Gene . OMIM:600801 a owl:Class ; @@ -127929,8 +131358,8 @@ OMIM:600801 a owl:Class ; PMID:541040, PMID:7791817, PMID:7914569 ; - oboInOwl:hasDbXref UMLS:C1833276 ; - oboInOwl:hasExactSynonym "isoproterenol-mediated vasodilatation" . + oboInOwl:hasExactSynonym "isoproterenol-mediated vasodilatation" ; + skos:exactMatch UMLS:C1833276 . OMIM:600804 a owl:Class ; rdfs:label "MTNR1B" ; @@ -127941,15 +131370,16 @@ OMIM:600804 a owl:Class ; PMID:7568007 ; RO:0002525 CHR:9606chr11q14.3 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1442506, - UMLS:C3837967 ; oboInOwl:hasExactSynonym "MTNR1B", "mel1b", "melatonin receptor 1b", "mt2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4544 ; - skos:exactMatch HGNC_symbol:MTNR1B ; + skos:exactMatch UMLS:C1442506, + UMLS:C3837967, + HGNC:7464, + HGNC_symbol:MTNR1B ; biolink:category biolink:Gene . OMIM:600805 a owl:Class ; @@ -127971,7 +131401,6 @@ OMIM:600805 a owl:Class ; PMID:8618022 ; RO:0002525 CHR:9606chr18q11.2 ; RO:0003303 OMIM:245660 ; - oboInOwl:hasDbXref UMLS:C1416777 ; oboInOwl:hasExactSynonym "LAMA3", "bm600", "epiligrin, 170-kd subunit", @@ -127981,7 +131410,9 @@ OMIM:600805 a owl:Class ; "laminin, alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3909 ; - skos:exactMatch HGNC_symbol:LAMA3 ; + skos:exactMatch UMLS:C1416777, + HGNC:6483, + HGNC_symbol:LAMA3 ; biolink:category biolink:Gene . OMIM:600806 a owl:Class ; @@ -127990,7 +131421,6 @@ OMIM:600806 a owl:Class ; PMID:8370452, PMID:8526917, PMID:9332369 ; - oboInOwl:hasDbXref UMLS:C1413550 ; oboInOwl:hasExactSynonym "CNN1", "calponin 1", "calponin h1, mouse, homolog of", @@ -127998,7 +131428,9 @@ OMIM:600806 a owl:Class ; "smooth muscle-cell calponin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1264 ; - skos:exactMatch HGNC_symbol:CNN1 ; + skos:exactMatch UMLS:C1413550, + HGNC:2155, + HGNC_symbol:CNN1 ; biolink:category biolink:Gene . OMIM:600809 a owl:Class ; @@ -128022,13 +131454,14 @@ OMIM:600810 a owl:Class ; PMID:9305844 ; RO:0002525 CHR:9606chr20p12.3-p12.2 ; RO:0003303 OMIM:614669 ; - oboInOwl:hasDbXref UMLS:C1418634 ; oboInOwl:hasExactSynonym "PLCB4", "phospholipase c, beta-4", "plc-beta-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5332 ; - skos:exactMatch HGNC_symbol:PLCB4 ; + skos:exactMatch UMLS:C1418634, + HGNC:9059, + HGNC_symbol:PLCB4 ; biolink:category biolink:Gene . OMIM:600811 a owl:Class ; @@ -128044,13 +131477,14 @@ OMIM:600811 a owl:Class ; PMID:9892649 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:278740 ; - oboInOwl:hasDbXref UMLS:C1413942 ; oboInOwl:hasExactSynonym "DDB2", "DNA damage-binding protein 2", "ddb, p48 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1643 ; - skos:exactMatch HGNC_symbol:DDB2 ; + skos:exactMatch UMLS:C1413942, + HGNC:2718, + HGNC_symbol:DDB2 ; biolink:category biolink:Gene . OMIM:600812 a owl:Class ; @@ -128062,7 +131496,6 @@ OMIM:600812 a owl:Class ; PMID:31487268, PMID:8530103, PMID:8895660 ; - oboInOwl:hasDbXref UMLS:C1419989 ; oboInOwl:hasExactSynonym "SRSF1", "alternative splicing factor", "serine/arginine-rich splicing factor 1", @@ -128072,7 +131505,9 @@ OMIM:600812 a owl:Class ; "splicing factor, serine/arginine-rich, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6426 ; - skos:exactMatch HGNC_symbol:SRSF1 ; + skos:exactMatch UMLS:C1419989, + HGNC:10780, + HGNC_symbol:SRSF1 ; biolink:category biolink:Gene . OMIM:600813 a owl:Class ; @@ -128083,7 +131518,6 @@ OMIM:600813 a owl:Class ; PMID:17361132, PMID:31578525, PMID:8530103 ; - oboInOwl:hasDbXref UMLS:C1419992 ; oboInOwl:hasExactSynonym "SRSF2", "serine/arginine-rich splicing factor 2", "splicing factor sc35", @@ -128092,7 +131526,9 @@ OMIM:600813 a owl:Class ; "splicing factor, serine/arginine-rich, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6427 ; - skos:exactMatch HGNC_symbol:SRSF2 ; + skos:exactMatch UMLS:C1419992, + HGNC:10783, + HGNC_symbol:SRSF2 ; biolink:category biolink:Gene . OMIM:600814 a owl:Class ; @@ -128130,13 +131566,14 @@ OMIM:600814 a owl:Class ; PMID:9826654 ; RO:0002525 CHR:9606chr11q21 ; RO:0003303 OMIM:604391 ; - oboInOwl:hasDbXref UMLS:C1417250 ; oboInOwl:hasExactSynonym "MRE11", "meiotic recombination 11, s. cerevisiae, homolog of, a", "mre11 homolog, double-strand break repair nuclease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4361 ; - skos:exactMatch HGNC_symbol:MRE11 ; + skos:exactMatch UMLS:C1417250, + HGNC:7230, + HGNC_symbol:MRE11 ; biolink:category biolink:Gene . OMIM:600815 a owl:Class ; @@ -128144,13 +131581,14 @@ OMIM:600815 a owl:Class ; IAO:0000142 PMID:16934752, PMID:2050671, PMID:8530069 ; - oboInOwl:hasDbXref UMLS:C1418728 ; oboInOwl:hasExactSynonym "DNA polymerase, delta 2, small subunit", "POLD2", "polymerase (dna-directed), delta 2, regulatory subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5425 ; - skos:exactMatch HGNC_symbol:POLD2 ; + skos:exactMatch UMLS:C1418728, + HGNC:9176, + HGNC_symbol:POLD2 ; biolink:category biolink:Gene . OMIM:600817 a owl:Class ; @@ -128159,7 +131597,6 @@ OMIM:600817 a owl:Class ; PMID:16858073, PMID:21823155, PMID:8530085 ; - oboInOwl:hasDbXref UMLS:C1421472 ; oboInOwl:hasExactSynonym "VSNL1", "hippocalcin-like 3", "vilip", @@ -128167,7 +131604,9 @@ OMIM:600817 a owl:Class ; "visinin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7447 ; - skos:exactMatch HGNC_symbol:VSNL1 ; + skos:exactMatch UMLS:C1421472, + HGNC:12722, + HGNC_symbol:VSNL1 ; biolink:category biolink:Gene . OMIM:600818 a owl:Class ; @@ -128182,13 +131621,14 @@ OMIM:600818 a owl:Class ; PMID:9384215, PMID:9615232, PMID:9693045 ; - oboInOwl:hasDbXref UMLS:C1420578 ; oboInOwl:hasExactSynonym "TAGLN", "sm22-alpha", "transgelin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6876 ; - skos:exactMatch HGNC_symbol:TAGLN ; + skos:exactMatch UMLS:C1420578, + HGNC:11553, + HGNC_symbol:TAGLN ; biolink:category biolink:Gene . OMIM:600819 a owl:Class ; @@ -128208,16 +131648,17 @@ OMIM:600819 a owl:Class ; PMID:9817930 ; RO:0002525 CHR:9606chr3q26.33 ; RO:0003303 OMIM:618822 ; - oboInOwl:hasDbXref UMLS:C1414872, - UMLS:C5394189, - UMLS:C5394193 ; oboInOwl:hasExactSynonym "FXR1", "fmr1 autosomal homolog 1", "fragile 10 mental retardation, autosomal homolog 1", "fragile x-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8087 ; - skos:exactMatch HGNC_symbol:FXR1 ; + skos:exactMatch UMLS:C1414872, + UMLS:C5394189, + UMLS:C5394193, + HGNC:4023, + HGNC_symbol:FXR1 ; biolink:category biolink:Gene . OMIM:600820 a owl:Class ; @@ -128229,14 +131670,15 @@ OMIM:600820 a owl:Class ; PMID:9021021 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:617164 ; - oboInOwl:hasDbXref UMLS:C1412502 ; oboInOwl:hasExactSynonym "ARCN1", "archain 1", "coatomer protein complex, subunit delta", "cop, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:372 ; - skos:exactMatch HGNC_symbol:ARCN1 ; + skos:exactMatch UMLS:C1412502, + HGNC:649, + HGNC_symbol:ARCN1 ; biolink:category biolink:Gene . OMIM:600821 a owl:Class ; @@ -128252,12 +131694,13 @@ OMIM:600821 a owl:Class ; PMID:24092737, PMID:8106369, PMID:8838314 ; - oboInOwl:hasDbXref UMLS:C1332122 ; oboInOwl:hasExactSynonym "AVPR1A", "arginine vasopressin receptor 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:552 ; - skos:exactMatch HGNC_symbol:AVPR1A ; + skos:exactMatch UMLS:C1332122, + HGNC:895, + HGNC_symbol:AVPR1A ; biolink:category biolink:Gene . OMIM:600822 a owl:Class ; @@ -128269,7 +131712,6 @@ OMIM:600822 a owl:Class ; PMID:23292512, PMID:7597030, PMID:7761466 ; - oboInOwl:hasDbXref UMLS:C1336573 ; oboInOwl:hasExactSynonym "TAF9", "taf9 RNA polymerase ii, tata box-binding protein-associated factor, 32-kd", "tafii31", @@ -128279,7 +131721,9 @@ OMIM:600822 a owl:Class ; "tbp-associated factor, RNA polymerase ii, 32-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6880 ; - skos:exactMatch HGNC_symbol:TAF9 ; + skos:exactMatch UMLS:C1336573, + HGNC:11542, + HGNC_symbol:TAF9 ; biolink:category biolink:Gene . OMIM:600823 a owl:Class ; @@ -128288,13 +131732,14 @@ OMIM:600823 a owl:Class ; PMID:7768952, PMID:8034638, PMID:8838796 ; - oboInOwl:hasDbXref UMLS:C1418974 ; oboInOwl:hasExactSynonym "PRSS8", "prostasin", "protease, serine, 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5652 ; - skos:exactMatch HGNC_symbol:PRSS8 ; + skos:exactMatch UMLS:C1418974, + HGNC:9491, + HGNC_symbol:PRSS8 ; biolink:category biolink:Gene . OMIM:600824 a owl:Class ; @@ -128311,7 +131756,6 @@ OMIM:600824 a owl:Class ; PMID:9039266 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:612124 ; - oboInOwl:hasDbXref UMLS:C1413769 ; oboInOwl:hasExactSynonym "CSRP3", "clp 51m domain protein, muscle", "cysteine- and glycine-rich protein 3", @@ -128319,7 +131763,9 @@ OMIM:600824 a owl:Class ; "lim domain protein, cardiac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8048 ; - skos:exactMatch HGNC_symbol:CSRP3 ; + skos:exactMatch UMLS:C1413769, + HGNC:2472, + HGNC_symbol:CSRP3 ; biolink:category biolink:Gene . OMIM:600826 a owl:Class ; @@ -128330,13 +131776,14 @@ OMIM:600826 a owl:Class ; PMID:7490074, PMID:9795216, PMID:9806546 ; - oboInOwl:hasDbXref UMLS:C1413764 ; oboInOwl:hasExactSynonym "CSPG3", "chondroitin sulfate proteoglycan 3", "neurocan" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1463 ; - skos:exactMatch HGNC_symbol:NCAN ; + skos:exactMatch UMLS:C1413764, + HGNC:2465, + HGNC_symbol:NCAN ; biolink:category biolink:Gene . OMIM:600827 a owl:Class ; @@ -128350,22 +131797,22 @@ OMIM:600827 a owl:Class ; PMID:8641425 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:613093 ; - oboInOwl:hasDbXref UMLS:C1418427, - UMLS:C2751308, - UMLS:C2751309 ; oboInOwl:hasExactSynonym "PDE6C", "pdea2", "phosphodiesterase 6c", "phosphodiesterase 6c, cgmp-specific, cone, alpha-prime" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5146 ; - skos:exactMatch HGNC_symbol:PDE6C ; + skos:exactMatch UMLS:C1418427, + UMLS:C2751308, + UMLS:C2751309, + HGNC:8787, + HGNC_symbol:PDE6C ; biolink:category biolink:Gene . OMIM:600828 a owl:Class ; rdfs:label "ATP5PO" ; IAO:0000142 PMID:7490082 ; - oboInOwl:hasDbXref UMLS:C1412671 ; oboInOwl:hasExactSynonym "ATP5PO", "atp synthase peripheral stalk, subunit oscp", "atp synthase, h+ transporting, mitochondrial f1 complex, o subunit", @@ -128373,7 +131820,9 @@ OMIM:600828 a owl:Class ; "oligomycin sensitivity-conferring protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:539 ; - skos:exactMatch HGNC_symbol:ATP5PO ; + skos:exactMatch UMLS:C1412671, + HGNC:850, + HGNC_symbol:ATP5PO ; biolink:category biolink:Gene . OMIM:600829 a owl:Class ; @@ -128394,26 +131843,28 @@ OMIM:600829 a owl:Class ; PMID:9660833 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:258480 ; - oboInOwl:hasDbXref UMLS:C1416448 ; oboInOwl:hasExactSynonym "INPPL1", "inositol polyphosphate phosphatase-like 1", "sh2-containing inositol phosphatase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3636 ; - skos:exactMatch HGNC_symbol:INPPL1 ; + skos:exactMatch UMLS:C1416448, + HGNC:6080, + HGNC_symbol:INPPL1 ; biolink:category biolink:Gene . OMIM:600830 a owl:Class ; rdfs:label "TRIM26" ; IAO:0000142 PMID:8530076 ; - oboInOwl:hasDbXref UMLS:C1421661 ; oboInOwl:hasExactSynonym "TRIM26", "acid finger protein", "tripartite motif-containing protein 26", "zinc finger protein 173, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7726 ; - skos:exactMatch HGNC_symbol:TRIM26 ; + skos:exactMatch UMLS:C1421661, + HGNC:12962, + HGNC_symbol:TRIM26 ; biolink:category biolink:Gene . OMIM:600831 a owl:Class ; @@ -128430,13 +131881,14 @@ OMIM:600831 a owl:Class ; PMID:7828849, PMID:8530096, PMID:9367156 ; - oboInOwl:hasDbXref UMLS:C1413906 ; oboInOwl:hasExactSynonym "DAPK1", "dapk", "death-associated protein kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1612 ; - skos:exactMatch HGNC_symbol:DAPK1 ; + skos:exactMatch UMLS:C1413906, + HGNC:2674, + HGNC_symbol:DAPK1 ; biolink:category biolink:Gene . OMIM:600832 a owl:Class ; @@ -128451,7 +131903,6 @@ OMIM:600832 a owl:Class ; PMID:8530098, PMID:8679524, PMID:9353121 ; - oboInOwl:hasDbXref UMLS:C1421894 ; oboInOwl:hasExactSynonym "ANP32A", "acidic leucine-rich nuclear phosphoprotein 32 family, member a", "acidic nuclear phosphoprotein 32 family, member a", @@ -128460,20 +131911,23 @@ OMIM:600832 a owl:Class ; "putative human hla class ii-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8125 ; - skos:exactMatch HGNC_symbol:ANP32A ; + skos:exactMatch UMLS:C1421894, + HGNC:13233, + HGNC_symbol:ANP32A ; biolink:category biolink:Gene . OMIM:600834 a owl:Class ; rdfs:label "ZNF165" ; IAO:0000142 PMID:7490084, PMID:9244436 ; - oboInOwl:hasDbXref UMLS:C1421654 ; oboInOwl:hasExactSynonym "ZNF165", "ld65", "zinc finger protein 165" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7718 ; - skos:exactMatch HGNC_symbol:ZNF165 ; + skos:exactMatch UMLS:C1421654, + HGNC:12953, + HGNC_symbol:ZNF165 ; biolink:category biolink:Gene . OMIM:600835 a owl:Class ; @@ -128519,14 +131973,15 @@ OMIM:600835 a owl:Class ; PMID:9933168 ; RO:0002525 CHR:9606chr10q11.21 ; RO:0003303 OMIM:609423 ; - oboInOwl:hasDbXref UMLS:C1332817 ; oboInOwl:hasExactSynonym "CXCL12", "chemokine, cxc motif, ligand 12", "pre-b cell growth-stimulating factor", "stromal cell-derived factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6387 ; - skos:exactMatch HGNC_symbol:CXCL12 ; + skos:exactMatch UMLS:C1332817, + HGNC:10672, + HGNC_symbol:CXCL12 ; biolink:category biolink:Gene . OMIM:600836 a owl:Class ; @@ -128537,12 +131992,13 @@ OMIM:600836 a owl:Class ; PMID:7490092 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:115900 ; - oboInOwl:hasDbXref UMLS:C1413727 ; oboInOwl:hasExactSynonym "CRYBA2", "crystallin, beta-a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1412 ; - skos:exactMatch HGNC_symbol:CRYBA2 ; + skos:exactMatch UMLS:C1413727, + HGNC:2395, + HGNC_symbol:CRYBA2 ; biolink:category biolink:Gene . OMIM:600837 a owl:Class ; @@ -128588,12 +132044,13 @@ OMIM:600837 a owl:Class ; PMID:9497292 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:613711 ; - oboInOwl:hasDbXref UMLS:C1333669 ; oboInOwl:hasExactSynonym "GDNF", "glial cell line-derived neurotrophic factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2668 ; - skos:exactMatch HGNC_symbol:GDNF ; + skos:exactMatch UMLS:C1333669, + HGNC:4232, + HGNC_symbol:GDNF ; biolink:category biolink:Gene . OMIM:600838 a owl:Class ; @@ -128620,18 +132077,19 @@ OMIM:600838 a owl:Class ; PMID:9321431 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:618806 ; - oboInOwl:hasDbXref UMLS:C1421504, - UMLS:C1866426, - UMLS:C2752083, - UMLS:C5394133, - UMLS:C5394567, - UMLS:C5394592 ; oboInOwl:hasExactSynonym "FOXN1", "forkhead box n1", "winged helix nude" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8456 ; - skos:exactMatch HGNC_symbol:FOXN1 ; + skos:exactMatch UMLS:C1421504, + UMLS:C1866426, + UMLS:C2752083, + UMLS:C5394133, + UMLS:C5394567, + UMLS:C5394592, + HGNC:12765, + HGNC_symbol:FOXN1 ; biolink:category biolink:Gene . OMIM:600839 a owl:Class ; @@ -128646,13 +132104,14 @@ OMIM:600839 a owl:Class ; PMID:9585600 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:601678 ; - oboInOwl:hasDbXref UMLS:C1420090 ; oboInOwl:hasExactSynonym "SLC12A1", "sodium-potassium-chloride transporter 2", "solute carrier family 12 (sodium/potassium/chloride transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6557 ; - skos:exactMatch HGNC_symbol:SLC12A1 ; + skos:exactMatch UMLS:C1420090, + HGNC:10910, + HGNC_symbol:SLC12A1 ; biolink:category biolink:Gene . OMIM:600840 a owl:Class ; @@ -128677,26 +132136,27 @@ OMIM:600840 a owl:Class ; PMID:8589530 ; RO:0002525 CHR:9606chr5q23.3 ; RO:0003303 OMIM:619080 ; - oboInOwl:hasDbXref UMLS:C1420091, - UMLS:C5436756, - UMLS:C5436768, - UMLS:C5436771 ; oboInOwl:hasExactSynonym "SLC12A2", "na-k-cl cotransporter, bumetanide-sensitive", "sodium-potassium-chloride transporter 1", "solute carrier family 12 (sodium/potassium/chloride transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6558 ; - skos:exactMatch HGNC_symbol:SLC12A2 ; + skos:exactMatch UMLS:C1420091, + UMLS:C5436756, + UMLS:C5436768, + UMLS:C5436771, + HGNC:10911, + HGNC_symbol:SLC12A2 ; biolink:category biolink:Gene . OMIM:600841 a owl:Class ; rdfs:label "eukaryotic translation elongation factor 1 alpha-1-like 14" ; IAO:0000142 PMID:7542776 ; - oboInOwl:hasDbXref UMLS:C1833249 ; oboInOwl:hasExactSynonym "EEF1A1L14", "eukaryotic translation elongation factor 1 alpha-1-like 14", - "prostatic carcinoma tumor-inducing gene 1" . + "prostatic carcinoma tumor-inducing gene 1" ; + skos:exactMatch UMLS:C1833249 . OMIM:600842 a owl:Class ; rdfs:label "GCKR" ; @@ -128715,14 +132175,15 @@ OMIM:600842 a owl:Class ; PMID:9570959 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:613463 ; - oboInOwl:hasDbXref UMLS:C1415015, - UMLS:C3150714 ; oboInOwl:hasExactSynonym "GCKR", "gkrp", "glucokinase regulatory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2646 ; - skos:exactMatch HGNC_symbol:GCKR ; + skos:exactMatch UMLS:C1415015, + UMLS:C3150714, + HGNC:4196, + HGNC_symbol:GCKR ; biolink:category biolink:Gene . OMIM:600843 a owl:Class ; @@ -128737,14 +132198,15 @@ OMIM:600843 a owl:Class ; PMID:7566120, PMID:9221902, PMID:9300827 ; - oboInOwl:hasDbXref UMLS:C1418212 ; oboInOwl:hasExactSynonym "P2RX3", "p2x receptor, subunit 3", "purinergic receptor p2x, ligand-gated ion channel, 3", "purinoceptor p2x3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5024 ; - skos:exactMatch HGNC_symbol:P2RX3 ; + skos:exactMatch UMLS:C1418212, + HGNC:8534, + HGNC_symbol:P2RX3 ; biolink:category biolink:Gene . OMIM:600844 a owl:Class ; @@ -128762,13 +132224,14 @@ OMIM:600844 a owl:Class ; PMID:7566120 ; RO:0002525 CHR:9606chr12q24.33 ; RO:0003303 OMIM:608224 ; - oboInOwl:hasDbXref UMLS:C1423503 ; oboInOwl:hasExactSynonym "P2RX2", "p2x receptor, subunit 2", "purinergic receptor p2x, ligand-gated ion channel, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22953 ; - skos:exactMatch HGNC_symbol:P2RX2 ; + skos:exactMatch UMLS:C1423503, + HGNC:15459, + HGNC_symbol:P2RX2 ; biolink:category biolink:Gene . OMIM:600845 a owl:Class ; @@ -128785,14 +132248,15 @@ OMIM:600845 a owl:Class ; PMID:8834001, PMID:9558372, PMID:9565569 ; - oboInOwl:hasDbXref UMLS:C1418211 ; oboInOwl:hasExactSynonym "P2RX1", "p2x receptor, subunit 1", "purinergic receptor p2x, ligand-gated ion channel, 1", "purinoceptor p2x1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5023 ; - skos:exactMatch HGNC_symbol:P2RX1 ; + skos:exactMatch UMLS:C1418211, + HGNC:8533, + HGNC_symbol:P2RX1 ; biolink:category biolink:Gene . OMIM:600846 a owl:Class ; @@ -128804,14 +132268,15 @@ OMIM:600846 a owl:Class ; PMID:19641588, PMID:8598206, PMID:9016352 ; - oboInOwl:hasDbXref UMLS:C1418213 ; oboInOwl:hasExactSynonym "P2RX4", "p2x receptor, subunit 4", "purinergic receptor p2x, ligand-gated ion channel, 4", "purinoceptor p2x4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5025 ; - skos:exactMatch HGNC_symbol:P2RX4 ; + skos:exactMatch UMLS:C1418213, + HGNC:8535, + HGNC_symbol:P2RX4 ; biolink:category biolink:Gene . OMIM:600847 a owl:Class ; @@ -128831,13 +132296,14 @@ OMIM:600848 a owl:Class ; PMID:25915022, PMID:7566114, PMID:7566127 ; - oboInOwl:hasDbXref UMLS:C1334871 ; oboInOwl:hasExactSynonym "NCOR2", "nuclear receptor corepressor 2", "silencing mediator for retinoid and thyroid hormone receptors" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9612 ; - skos:exactMatch HGNC_symbol:NCOR2 ; + skos:exactMatch UMLS:C1334871, + HGNC:7673, + HGNC_symbol:NCOR2 ; biolink:category biolink:Gene . OMIM:600849 a owl:Class ; @@ -128853,20 +132319,21 @@ OMIM:600849 a owl:Class ; PMID:19037247, PMID:7566114, PMID:9486655 ; - oboInOwl:hasDbXref UMLS:C1334870 ; oboInOwl:hasExactSynonym "NCOR1", "nuclear receptor corepressor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9611 ; - skos:exactMatch HGNC_symbol:NCOR1 ; + skos:exactMatch UMLS:C1334870, + HGNC:7672, + HGNC_symbol:NCOR1 ; biolink:category biolink:Gene . OMIM:600851 a owl:Class ; rdfs:label "mitochondrial import-stimulating factor" ; IAO:0000142 PMID:7651521 ; - oboInOwl:hasDbXref UMLS:C1833246 ; oboInOwl:hasExactSynonym "mitochondrial import-stimulating factor", - "msf" . + "msf" ; + skos:exactMatch UMLS:C1833246 . OMIM:600852 a owl:Class ; rdfs:label "retinitis pigmentosa 17" ; @@ -128879,10 +132346,10 @@ OMIM:600852 a owl:Class ; PMID:7581389, PMID:9385361 ; RO:0002525 CHR:9606chr17q23.2 ; - oboInOwl:hasDbXref UMLS:C1833245 ; oboInOwl:hasExactSynonym "RP17", "retinitis pigmentosa 17" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1833245 ; biolink:category biolink:Disease . OMIM:600853 a owl:Class ; @@ -128899,14 +132366,15 @@ OMIM:600853 a owl:Class ; PMID:8838814 ; RO:0002525 CHR:9606chr5q33.1 ; RO:0003303 OMIM:616116 ; - oboInOwl:hasDbXref UMLS:C1417617 ; oboInOwl:hasExactSynonym "NDST1", "heparan glucosaminyl n-deacetylase/n-sulfotransferase 1", "heparan sulfate n-deacetylase/n-sulfotransferase", "n-deacetylase/n-sulfotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3340 ; - skos:exactMatch HGNC_symbol:NDST1 ; + skos:exactMatch UMLS:C1417617, + HGNC:7680, + HGNC_symbol:NDST1 ; biolink:category biolink:Gene . OMIM:600854 a owl:Class ; @@ -128946,8 +132414,6 @@ OMIM:600855 a owl:Class ; PMID:9140392 ; RO:0002525 CHR:9606chr21q22.13 ; RO:0003303 OMIM:614104 ; - oboInOwl:hasDbXref UMLS:C1414204, - UMLS:C3279839 ; oboInOwl:hasExactSynonym "DYRK1A", "dual-specificity tyrosine phosphorylation-regulated kinase", "dual-specificity tyrosine phosphorylation-regulated kinase 1", @@ -128956,7 +132422,10 @@ OMIM:600855 a owl:Class ; "mnb protein kinase, serine/threonine-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1859 ; - skos:exactMatch HGNC_symbol:DYRK1A ; + skos:exactMatch UMLS:C1414204, + UMLS:C3279839, + HGNC:3091, + HGNC_symbol:DYRK1A ; biolink:category biolink:Gene . OMIM:600856 a owl:Class ; @@ -128988,14 +132457,15 @@ OMIM:600856 a owl:Class ; PMID:9341892 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:614732 ; - oboInOwl:hasDbXref UMLS:C1366618 ; oboInOwl:hasExactSynonym "CDKN1C", "cyclin-dependent kinase inhibitor 1c", "kip2", "p57(kip2)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1028 ; - skos:exactMatch HGNC_symbol:CDKN1C ; + skos:exactMatch UMLS:C1366618, + HGNC:1786, + HGNC_symbol:CDKN1C ; biolink:category biolink:Gene . OMIM:600857 a owl:Class ; @@ -129020,14 +132490,15 @@ OMIM:600857 a owl:Class ; PMID:9662387 ; RO:0002525 CHR:9606chr5p15.33 ; RO:0003303 OMIM:614165 ; - oboInOwl:hasDbXref UMLS:C1419906 ; oboInOwl:hasExactSynonym "SDHA", "sdh1, homolog of", "succinate dehydrogenase 1, s. cerevisiae, homolog of", "succinate dehydrogenase complex, subunit a, flavoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6389 ; - skos:exactMatch HGNC_symbol:SDHA ; + skos:exactMatch UMLS:C1419906, + HGNC:10680, + HGNC_symbol:SDHA ; biolink:category biolink:Gene . OMIM:600858 a owl:Class ; @@ -129043,10 +132514,10 @@ OMIM:600858 a owl:Class ; PMID:18403758, PMID:19787389, PMID:7657794 ; - oboInOwl:hasDbXref UMLS:C1833236 ; oboInOwl:hasExactSynonym "CMH6", "cardiomyopathy, familial hypertrophic, 6" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C1833236 ; biolink:category biolink:Disease . OMIM:600859 a owl:Class ; @@ -129060,14 +132531,15 @@ OMIM:600859 a owl:Class ; PMID:9878398 ; RO:0002525 CHR:9606chr7p22.1 ; RO:0003303 OMIM:618006 ; - oboInOwl:hasDbXref UMLS:C1833235 ; oboInOwl:hasExactSynonym "AIMP2", "aminoacyl trna synthetase complex-interacting multifunctional protein 2", "jtv1 gene", "trna synthetase cofactor p38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7965 ; - skos:exactMatch HGNC_symbol:AIMP2 ; + skos:exactMatch UMLS:C1833235, + HGNC:20609, + HGNC_symbol:AIMP2 ; biolink:category biolink:Gene . OMIM:600860 a owl:Class ; @@ -129077,13 +132549,14 @@ OMIM:600860 a owl:Class ; PMID:7622052, PMID:7789179, PMID:8063702 ; - oboInOwl:hasDbXref UMLS:C1415350 ; oboInOwl:hasExactSynonym "GTF3A", "general transcription factor 3a", "tfiiia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2971 ; - skos:exactMatch HGNC_symbol:GTF3A ; + skos:exactMatch UMLS:C1415350, + HGNC:4662, + HGNC_symbol:GTF3A ; biolink:category biolink:Gene . OMIM:600861 a owl:Class ; @@ -129097,13 +132570,14 @@ OMIM:600861 a owl:Class ; PMID:25766235, PMID:7643615, PMID:8179820 ; - oboInOwl:hasDbXref UMLS:C1335616 ; oboInOwl:hasExactSynonym "RGS2", "basic helix-loop-helix phosphoprotein g0s8", "regulator of g protein signaling 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5997 ; - skos:exactMatch HGNC_symbol:RGS2 ; + skos:exactMatch UMLS:C1335616, + HGNC:9998, + HGNC_symbol:RGS2 ; biolink:category biolink:Gene . OMIM:600862 a owl:Class ; @@ -129114,7 +132588,6 @@ OMIM:600862 a owl:Class ; PMID:7637788, PMID:9070945, PMID:9303539 ; - oboInOwl:hasDbXref UMLS:C1415715 ; oboInOwl:hasExactSynonym "AGFG1", "adp-ribosylation factor gtpase-activating protein with fg repeats 1", "arfgap with fg repeats 1", @@ -129123,7 +132596,9 @@ OMIM:600862 a owl:Class ; "rev/rex activation domain-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3267 ; - skos:exactMatch HGNC_symbol:AGFG1 ; + skos:exactMatch UMLS:C1415715, + HGNC:5175, + HGNC_symbol:AGFG1 ; biolink:category biolink:Gene . OMIM:600863 a owl:Class ; @@ -129136,13 +132611,14 @@ OMIM:600863 a owl:Class ; PMID:23413191, PMID:7797465, PMID:9674431 ; - oboInOwl:hasDbXref UMLS:C1413756 ; oboInOwl:hasExactSynonym "CSNK1E", "casein kinase i, epsilon", "doubletime, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1454 ; - skos:exactMatch HGNC_symbol:CSNK1E ; + skos:exactMatch UMLS:C1413756, + HGNC:2453, + HGNC_symbol:CSNK1E ; biolink:category biolink:Gene . OMIM:600864 a owl:Class ; @@ -129156,12 +132632,13 @@ OMIM:600864 a owl:Class ; PMID:8786104 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:615224 ; - oboInOwl:hasDbXref UMLS:C1413755 ; oboInOwl:hasExactSynonym "CSNK1D", "casein kinase i, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1453 ; - skos:exactMatch HGNC_symbol:CSNK1D ; + skos:exactMatch UMLS:C1413755, + HGNC:2452, + HGNC_symbol:CSNK1D ; biolink:category biolink:Gene . OMIM:600865 a owl:Class ; @@ -129172,13 +132649,14 @@ OMIM:600865 a owl:Class ; PMID:8062278, PMID:8275708, PMID:8833145 ; - oboInOwl:hasDbXref UMLS:C1335653 ; oboInOwl:hasExactSynonym "RTN1", "neuroendocrine-specific protein", "reticulon 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6252 ; - skos:exactMatch HGNC_symbol:RTN1 ; + skos:exactMatch UMLS:C1335653, + HGNC:10467, + HGNC_symbol:RTN1 ; biolink:category biolink:Gene . OMIM:600866 a owl:Class ; @@ -129191,40 +132669,43 @@ OMIM:600866 a owl:Class ; PMID:6245367, PMID:6317746, PMID:7606924 ; - oboInOwl:hasDbXref UMLS:C1418403 ; oboInOwl:hasExactSynonym "PDCD2", "programmed cell death 2", "zinc finger mynd domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5134 ; - skos:exactMatch HGNC_symbol:PDCD2 ; + skos:exactMatch UMLS:C1418403, + HGNC:8762, + HGNC_symbol:PDCD2 ; biolink:category biolink:Gene . OMIM:600867 a owl:Class ; rdfs:label "SSR2" ; IAO:0000142 PMID:7789174 ; - oboInOwl:hasDbXref UMLS:C1420429 ; oboInOwl:hasExactSynonym "SSR2", "signal sequence receptor, beta", "translocon-associated protein, beta", "trap-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6746 ; - skos:exactMatch HGNC_symbol:SSR2 ; + skos:exactMatch UMLS:C1420429, + HGNC:11324, + HGNC_symbol:SSR2 ; biolink:category biolink:Gene . OMIM:600868 a owl:Class ; rdfs:label "SSR1" ; IAO:0000142 PMID:10437777, PMID:8050590 ; - oboInOwl:hasDbXref UMLS:C1420428 ; oboInOwl:hasExactSynonym "SSR1", "signal sequence receptor, alpha", "translocon-associated protein, alpha subunit", "trap-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6745 ; - skos:exactMatch HGNC_symbol:SSR1 ; + skos:exactMatch UMLS:C1420428, + HGNC:11323, + HGNC_symbol:SSR1 ; biolink:category biolink:Gene . OMIM:600869 a owl:Class ; @@ -129235,13 +132716,14 @@ OMIM:600869 a owl:Class ; PMID:7789183, PMID:8366096, PMID:8415712 ; - oboInOwl:hasDbXref UMLS:C1333700 ; oboInOwl:hasExactSynonym "GRK6", "g protein-coupled receptor kinase 6", "gprk6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2870 ; - skos:exactMatch HGNC_symbol:GRK6 ; + skos:exactMatch UMLS:C1333700, + HGNC:4545, + HGNC_symbol:GRK6 ; biolink:category biolink:Gene . OMIM:600870 a owl:Class ; @@ -129253,13 +132735,14 @@ OMIM:600870 a owl:Class ; PMID:7685906, PMID:7789183, PMID:8415712 ; - oboInOwl:hasDbXref UMLS:C1333699 ; oboInOwl:hasExactSynonym "GRK5", "g protein-coupled receptor kinase 5", "gprk5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2869 ; - skos:exactMatch HGNC_symbol:GRK5 ; + skos:exactMatch UMLS:C1333699, + HGNC:4544, + HGNC_symbol:GRK5 ; biolink:category biolink:Gene . OMIM:600871 a owl:Class ; @@ -129287,15 +132770,16 @@ OMIM:600871 a owl:Class ; PMID:8441411 ; RO:0002525 CHR:9606chr1p22.1 ; RO:0003303 OMIM:613107 ; - oboInOwl:hasDbXref UMLS:C1415044, - UMLS:C1842930, - UMLS:C2751288 ; oboInOwl:hasExactSynonym "GFI1", "growth factor-independent 1", "znf163" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2672 ; - skos:exactMatch HGNC_symbol:GFI1 ; + skos:exactMatch UMLS:C1415044, + UMLS:C1842930, + UMLS:C2751288, + HGNC:4237, + HGNC_symbol:GFI1 ; biolink:category biolink:Gene . OMIM:600872 a owl:Class ; @@ -129308,13 +132792,14 @@ OMIM:600873 a owl:Class ; PMID:1549114, PMID:2531691, PMID:7606925 ; - oboInOwl:hasDbXref UMLS:C1413789 ; oboInOwl:hasExactSynonym "CTBS", "chitobiase, di-n-acetyl-", "chitobiase, lysosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1486 ; - skos:exactMatch HGNC_symbol:CTBS ; + skos:exactMatch UMLS:C1413789, + HGNC:2496, + HGNC_symbol:CTBS ; biolink:category biolink:Gene . OMIM:600874 a owl:Class ; @@ -129322,13 +132807,14 @@ OMIM:600874 a owl:Class ; IAO:0000142 PMID:1549114, PMID:3113327, PMID:7606925 ; - oboInOwl:hasDbXref UMLS:C1415158 ; oboInOwl:hasExactSynonym "GNG5", "g protein gamma-5 subunit", "guanine nucleotide-binding protein, gamma-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2787 ; - skos:exactMatch HGNC_symbol:GNG5 ; + skos:exactMatch UMLS:C1415158, + HGNC:4408, + HGNC_symbol:GNG5 ; biolink:category biolink:Gene . OMIM:600875 a owl:Class ; @@ -129336,13 +132822,14 @@ OMIM:600875 a owl:Class ; IAO:0000142 PMID:3026468, PMID:7796909, PMID:9730610 ; - oboInOwl:hasDbXref UMLS:C1412175 ; oboInOwl:hasExactSynonym "ACYP1", "acylphosphatase, erythrocyte", "acype" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:97 ; - skos:exactMatch HGNC_symbol:ACYP1 ; + skos:exactMatch UMLS:C1412175, + HGNC:179, + HGNC_symbol:ACYP1 ; biolink:category biolink:Gene . OMIM:600876 a owl:Class ; @@ -129354,13 +132841,14 @@ OMIM:600876 a owl:Class ; PMID:9614185 ; RO:0002525 CHR:9606chr11q12.1 ; RO:0003303 OMIM:619446 ; - oboInOwl:hasDbXref UMLS:C1823141 ; oboInOwl:hasExactSynonym "STX3", "stx3a", "syntaxin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6809 ; - skos:exactMatch HGNC_symbol:STX3 ; + skos:exactMatch UMLS:C1823141, + HGNC:11438, + HGNC_symbol:STX3 ; biolink:category biolink:Gene . OMIM:600878 a owl:Class ; @@ -129377,13 +132865,14 @@ OMIM:600879 a owl:Class ; PMID:8108407, PMID:8253388, PMID:8541844 ; - oboInOwl:hasDbXref UMLS:C1417846 ; oboInOwl:hasExactSynonym "NRF1", "alpha-pal", "nuclear respiratory factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4899 ; - skos:exactMatch HGNC_symbol:NRF1 ; + skos:exactMatch UMLS:C1417846, + HGNC:7996, + HGNC_symbol:NRF1 ; biolink:category biolink:Gene . OMIM:600885 a owl:Class ; @@ -129404,11 +132893,11 @@ OMIM:600886 a owl:Class ; PMID:7493028, PMID:7669675, PMID:8558554 ; - oboInOwl:hasDbXref UMLS:C1833213 ; oboInOwl:hasExactSynonym "HRFTC", "hyperferritinemia with or without cataract", "hyperferritinemia, hereditary, with congenital cataracts", "hyperferritinemia-cataract syndrome" ; + skos:exactMatch UMLS:C1833213 ; biolink:category biolink:Disease . OMIM:600887 a owl:Class ; @@ -129428,7 +132917,6 @@ OMIM:600887 a owl:Class ; PMID:9671718 ; RO:0002525 CHR:9606chr5q14.1 ; RO:0003303 OMIM:617100 ; - oboInOwl:hasDbXref UMLS:C0879392 ; oboInOwl:hasExactSynonym "MSH3", "divergent upstream protein", "mismatch repair protein 1", @@ -129436,7 +132924,9 @@ OMIM:600887 a owl:Class ; "muts, e. coli, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4437 ; - skos:exactMatch HGNC_symbol:MSH3 ; + skos:exactMatch UMLS:C0879392, + HGNC:7326, + HGNC_symbol:MSH3 ; biolink:category biolink:Gene . OMIM:600888 a owl:Class ; @@ -129445,14 +132935,15 @@ OMIM:600888 a owl:Class ; PMID:2052597, PMID:7656213, PMID:8134109 ; - oboInOwl:hasDbXref UMLS:C1332111 ; oboInOwl:hasExactSynonym "ARHGEF5", "oncogene tim", "rho guanine nucleotide exchange factor 5", "transforming immortalized mammary" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7984 ; - skos:exactMatch HGNC_symbol:ARHGEF5 ; + skos:exactMatch UMLS:C1332111, + HGNC:13209, + HGNC_symbol:ARHGEF5 ; biolink:category biolink:Gene . OMIM:600889 a owl:Class ; @@ -129460,7 +132951,6 @@ OMIM:600889 a owl:Class ; IAO:0000142 PMID:10380701, PMID:15562282, PMID:7672821 ; - oboInOwl:hasDbXref UMLS:C1538443 ; oboInOwl:hasExactSynonym "CFHR2", "cfhl2", "complement factor h-related 2", @@ -129468,7 +132958,9 @@ OMIM:600889 a owl:Class ; "h factor-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3080 ; - skos:exactMatch HGNC_symbol:CFHR2 ; + skos:exactMatch UMLS:C1538443, + HGNC:4890, + HGNC_symbol:CFHR2 ; biolink:category biolink:Gene . OMIM:600890 a owl:Class ; @@ -129495,7 +132987,6 @@ OMIM:600890 a owl:Class ; PMID:9739053 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:609015 ; - oboInOwl:hasDbXref UMLS:C1415460 ; oboInOwl:hasExactSynonym "HADHA", "echa", "hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase, alpha subunit", @@ -129504,7 +132995,9 @@ OMIM:600890 a owl:Class ; "trifunctional protein, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3030 ; - skos:exactMatch HGNC_symbol:HADHA ; + skos:exactMatch UMLS:C1415460, + HGNC:4801, + HGNC_symbol:HADHA ; biolink:category biolink:Gene . OMIM:600891 a owl:Class ; @@ -129522,14 +133015,15 @@ OMIM:600892 a owl:Class ; PMID:7647800, PMID:8661114, PMID:8661115 ; - oboInOwl:hasDbXref UMLS:C1420068 ; oboInOwl:hasExactSynonym "SIM2", "sim", "sim bhlh transcription factor 2", "single-minded, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6493 ; - skos:exactMatch HGNC_symbol:SIM2 ; + skos:exactMatch UMLS:C1420068, + HGNC:10883, + HGNC_symbol:SIM2 ; biolink:category biolink:Gene . OMIM:600893 a owl:Class ; @@ -129548,7 +133042,6 @@ OMIM:600895 a owl:Class ; PMID:15885496, PMID:16299503, PMID:8666380 ; - oboInOwl:hasDbXref UMLS:C1826696 ; oboInOwl:hasExactSynonym "PRLHR", "g protein-coupled receptor 10", "gr3", @@ -129557,7 +133050,9 @@ OMIM:600895 a owl:Class ; "prolactin-releasing peptide receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2834 ; - skos:exactMatch HGNC_symbol:PRLHR ; + skos:exactMatch UMLS:C1826696, + HGNC:4464, + HGNC_symbol:PRLHR ; biolink:category biolink:Gene . OMIM:600896 a owl:Class ; @@ -129566,14 +133061,15 @@ OMIM:600896 a owl:Class ; PMID:10828617, PMID:12076554, PMID:8666380 ; - oboInOwl:hasDbXref UMLS:C1540171 ; oboInOwl:hasExactSynonym "GPR14", "g protein-coupled receptor 14", "urotensin 2 receptor", "urotensin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2837 ; - skos:exactMatch HGNC_symbol:UTS2R ; + skos:exactMatch UMLS:C1540171, + HGNC:4468, + HGNC_symbol:UTS2R ; biolink:category biolink:Gene . OMIM:600897 a owl:Class ; @@ -129599,7 +133095,6 @@ OMIM:600897 a owl:Class ; PMID:9860964 ; RO:0002525 CHR:9606chr1q21.2 ; RO:0003303 OMIM:116200 ; - oboInOwl:hasDbXref UMLS:C1415075 ; oboInOwl:hasExactSynonym "GJA8", "connexin 50", "gap junction protein, 50-kd", @@ -129607,7 +133102,9 @@ OMIM:600897 a owl:Class ; "lens intrinsic membrane protein mp70" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2703 ; - skos:exactMatch HGNC_symbol:GJA8 ; + skos:exactMatch UMLS:C1415075, + HGNC:4281, + HGNC_symbol:GJA8 ; biolink:category biolink:Gene . OMIM:600898 a owl:Class ; @@ -129619,14 +133116,15 @@ OMIM:600898 a owl:Class ; PMID:8666406 ; RO:0002525 CHR:9606chr2p25.2 ; RO:0003303 OMIM:615866 ; - oboInOwl:hasDbXref UMLS:C1420318, - UMLS:C4014528 ; oboInOwl:hasExactSynonym "SOX11", "sry-box 11", "sry-related hmg-box gene 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6664 ; - skos:exactMatch HGNC_symbol:SOX11 ; + skos:exactMatch UMLS:C1420318, + UMLS:C4014528, + HGNC:11191, + HGNC_symbol:SOX11 ; biolink:category biolink:Gene . OMIM:600900 a owl:Class ; @@ -129644,42 +133142,45 @@ OMIM:600900 a owl:Class ; PMID:9631401 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:604286 ; - oboInOwl:hasDbXref UMLS:C1420006 ; oboInOwl:hasExactSynonym "SGCB", "dystrophin-associated glycoprotein, 43-kd", "sarcoglycan, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6443 ; - skos:exactMatch HGNC_symbol:SGCB ; + skos:exactMatch UMLS:C1420006, + HGNC:10806, + HGNC_symbol:SGCB ; biolink:category biolink:Gene . OMIM:600902 a owl:Class ; rdfs:label "SEPHS1" ; IAO:0000142 PMID:15534230, PMID:7665581 ; - oboInOwl:hasDbXref UMLS:C1426332 ; oboInOwl:hasExactSynonym "SEPHS1", "selenophosphate synthetase 1", "sps1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22929 ; - skos:exactMatch HGNC_symbol:SEPHS1 ; + skos:exactMatch UMLS:C1426332, + HGNC:19685, + HGNC_symbol:SEPHS1 ; biolink:category biolink:Gene . OMIM:600903 a owl:Class ; rdfs:label "wiskott-aldrich syndrome, autosomal dominant" ; - oboInOwl:hasDbXref UMLS:C1833170 ; - oboInOwl:hasExactSynonym "wiskott-aldrich syndrome, autosomal dominant" . + oboInOwl:hasExactSynonym "wiskott-aldrich syndrome, autosomal dominant" ; + skos:exactMatch UMLS:C1833170 . OMIM:600904 a owl:Class ; rdfs:label "ASTN1" ; - oboInOwl:hasDbXref UMLS:C1825094 ; oboInOwl:hasExactSynonym "ASTN1", "astrotactin", "astrotactin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:460 ; - skos:exactMatch HGNC_symbol:ASTN1 ; + skos:exactMatch UMLS:C1825094, + HGNC:773, + HGNC_symbol:ASTN1 ; biolink:category biolink:Gene . OMIM:600905 a owl:Class ; @@ -129689,21 +133190,21 @@ OMIM:600905 a owl:Class ; OMIM:600906 a owl:Class ; rdfs:label "ectodermal dysplasia with mental retardation and syndactyly" ; IAO:0000142 PMID:8533843 ; - oboInOwl:hasDbXref UMLS:C1833169 ; - oboInOwl:hasExactSynonym "ectodermal dysplasia with mental retardation and syndactyly" . + oboInOwl:hasExactSynonym "ectodermal dysplasia with mental retardation and syndactyly" ; + skos:exactMatch UMLS:C1833169 . OMIM:600907 a owl:Class ; rdfs:label "enamel hypoplasia, cataracts, and aqueductal stenosis" ; IAO:0000142 PMID:8533849 ; - oboInOwl:hasDbXref UMLS:C1833163 ; - oboInOwl:hasExactSynonym "enamel hypoplasia, cataracts, and aqueductal stenosis" . + oboInOwl:hasExactSynonym "enamel hypoplasia, cataracts, and aqueductal stenosis" ; + skos:exactMatch UMLS:C1833163 . OMIM:600908 a owl:Class ; rdfs:label "kennerknecht syndrome" ; IAO:0000142 PMID:8849014 ; - oboInOwl:hasDbXref UMLS:C1833162 ; oboInOwl:hasExactSynonym "agonadism, 46,xy, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations", - "kennerknecht syndrome" . + "kennerknecht syndrome" ; + skos:exactMatch UMLS:C1833162 . OMIM:600909 a owl:Class ; rdfs:label "LSS" ; @@ -129718,16 +133219,17 @@ OMIM:600909 a owl:Class ; PMID:8655142 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:618275 ; - oboInOwl:hasDbXref UMLS:C1416926, - UMLS:C4225300, - UMLS:C4748930, - UMLS:C5394241 ; oboInOwl:hasExactSynonym "2,3-oxidosqualene-lanosterol cyclase", "LSS", "lanosterol synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4047 ; - skos:exactMatch HGNC_symbol:LSS ; + skos:exactMatch UMLS:C1416926, + UMLS:C4225300, + UMLS:C4748930, + UMLS:C5394241, + HGNC:6708, + HGNC_symbol:LSS ; biolink:category biolink:Gene . OMIM:600911 a owl:Class ; @@ -129735,7 +133237,6 @@ OMIM:600911 a owl:Class ; IAO:0000142 PMID:7527372, PMID:8456298, PMID:8666403 ; - oboInOwl:hasDbXref UMLS:C1826276 ; oboInOwl:hasExactSynonym "MPPED2", "chromosome 11 open reading frame 8", "d11s302e", @@ -129743,20 +133244,23 @@ OMIM:600911 a owl:Class ; "metallophosphoesterase domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:744 ; - skos:exactMatch HGNC_symbol:MPPED2 ; + skos:exactMatch UMLS:C1826276, + HGNC:1180, + HGNC_symbol:MPPED2 ; biolink:category biolink:Gene . OMIM:600912 a owl:Class ; rdfs:label "TCF19" ; IAO:0000142 PMID:1868030, PMID:8595903 ; - oboInOwl:hasDbXref UMLS:C1420635 ; oboInOwl:hasExactSynonym "TCF19", "sc1", "transcription factor 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6941 ; - skos:exactMatch HGNC_symbol:TCF19 ; + skos:exactMatch UMLS:C1420635, + HGNC:11629, + HGNC_symbol:TCF19 ; biolink:category biolink:Gene . OMIM:600913 a owl:Class ; @@ -129768,7 +133272,6 @@ OMIM:600914 a owl:Class ; IAO:0000142 PMID:17361132, PMID:7556075, PMID:7686911 ; - oboInOwl:hasDbXref UMLS:C1419996 ; oboInOwl:hasExactSynonym "SRSF5", "serine/arginine-rich splicing factor 5", "splicing factor, arginine/serine-rich, 40-kd", @@ -129776,7 +133279,9 @@ OMIM:600914 a owl:Class ; "splicing factor, serine/arginine-rich, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6430 ; - skos:exactMatch HGNC_symbol:SRSF5 ; + skos:exactMatch UMLS:C1419996, + HGNC:10787, + HGNC_symbol:SRSF5 ; biolink:category biolink:Gene . OMIM:600915 a owl:Class ; @@ -129785,12 +133290,13 @@ OMIM:600915 a owl:Class ; PMID:1478958, PMID:4078630, PMID:9505279 ; - oboInOwl:hasDbXref UMLS:C1417679 ; oboInOwl:hasExactSynonym "NES", "nestin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10763 ; - skos:exactMatch HGNC_symbol:NES ; + skos:exactMatch UMLS:C1417679, + HGNC:7756, + HGNC_symbol:NES ; biolink:category biolink:Gene . OMIM:600916 a owl:Class ; @@ -129800,13 +133306,14 @@ OMIM:600916 a owl:Class ; PMID:11683991, PMID:20463662, PMID:7608176 ; - oboInOwl:hasDbXref UMLS:C1416442 ; oboInOwl:hasExactSynonym "INPP4A", "inositol polyphosphate-4-phosphatase, iia i, 107-kd", "inpp4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3631 ; - skos:exactMatch HGNC_symbol:INPP4A ; + skos:exactMatch UMLS:C1416442, + HGNC:6074, + HGNC_symbol:INPP4A ; biolink:category biolink:Gene . OMIM:600917 a owl:Class ; @@ -129820,7 +133327,6 @@ OMIM:600917 a owl:Class ; PMID:9814479 ; RO:0002525 CHR:9606chr7q31.1 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1418829 ; oboInOwl:hasExactSynonym "PPP1R3A", "protein phosphatase 1, glycogen-associated regulatory subunit", "protein phosphatase 1, glycogen-targeting subunit, muscle", @@ -129828,7 +133334,9 @@ OMIM:600917 a owl:Class ; "protein phosphatase 1, regulatory subunit 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5506 ; - skos:exactMatch HGNC_symbol:PPP1R3A ; + skos:exactMatch UMLS:C1418829, + HGNC:9291, + HGNC_symbol:PPP1R3A ; biolink:category biolink:Gene . OMIM:600918 a owl:Class ; @@ -129852,14 +133360,15 @@ OMIM:600921 a owl:Class ; PMID:8575785 ; RO:0002525 CHR:9606chr13q12.11 ; RO:0003303 OMIM:612961 ; - oboInOwl:hasDbXref UMLS:C1333540, - UMLS:C2751826 ; oboInOwl:hasExactSynonym "FGF9", "fibroblast growth factor 9", "glia-activating factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2254 ; - skos:exactMatch HGNC_symbol:FGF9 ; + skos:exactMatch UMLS:C1333540, + UMLS:C2751826, + HGNC:3687, + HGNC_symbol:FGF9 ; biolink:category biolink:Gene . OMIM:600922 a owl:Class ; @@ -129878,9 +133387,6 @@ OMIM:600922 a owl:Class ; PMID:9160829 ; RO:0002525 CHR:9606chr3q21.1 ; RO:0003303 OMIM:249210 ; - oboInOwl:hasDbXref UMLS:C1334539, - UMLS:C1608393, - UMLS:C3151077 ; oboInOwl:hasExactSynonym "MYLK", "kinase-related protein", "myosin light chain kinase", @@ -129888,7 +133394,11 @@ OMIM:600922 a owl:Class ; "telokin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4638 ; - skos:exactMatch HGNC_symbol:MYLK ; + skos:exactMatch UMLS:C1334539, + UMLS:C1608393, + UMLS:C3151077, + HGNC:7590, + HGNC_symbol:MYLK ; biolink:category biolink:Gene . OMIM:600923 a owl:Class ; @@ -129914,12 +133424,13 @@ OMIM:600923 a owl:Class ; PMID:9829909 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:176200 ; - oboInOwl:hasDbXref UMLS:C1418819 ; oboInOwl:hasExactSynonym "PPOX", "protoporphyrinogen oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5498 ; - skos:exactMatch HGNC_symbol:PPOX ; + skos:exactMatch UMLS:C1418819, + HGNC:9280, + HGNC_symbol:PPOX ; biolink:category biolink:Gene . OMIM:600925 a owl:Class ; @@ -129932,8 +133443,6 @@ OMIM:600925 a owl:Class ; PMID:8575779 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:114500 ; - oboInOwl:hasDbXref UMLS:C1335288, - UMLS:C3276201 ; oboInOwl:hasExactSynonym "PTPRJ", "cd148", "dep1", @@ -129942,7 +133451,10 @@ OMIM:600925 a owl:Class ; "susceptibility to colon cancer 1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5795 ; - skos:exactMatch HGNC_symbol:PTPRJ ; + skos:exactMatch UMLS:C1335288, + UMLS:C3276201, + HGNC:9673, + HGNC_symbol:PTPRJ ; biolink:category biolink:Gene . OMIM:600926 a owl:Class ; @@ -129953,12 +133465,13 @@ OMIM:600926 a owl:Class ; PMID:8595895, PMID:8697801, PMID:8838320 ; - oboInOwl:hasDbXref UMLS:C1335286 ; oboInOwl:hasExactSynonym "PTPRE", "protein-tyrosine phosphatase, receptor-type, epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5791 ; - skos:exactMatch HGNC_symbol:PTPRE ; + skos:exactMatch UMLS:C1335286, + HGNC:9669, + HGNC_symbol:PTPRE ; biolink:category biolink:Gene . OMIM:600927 a owl:Class ; @@ -129970,13 +133483,14 @@ OMIM:600927 a owl:Class ; PMID:12717441, PMID:7739547, PMID:8575754 ; - oboInOwl:hasDbXref UMLS:C1413292 ; oboInOwl:hasExactSynonym "CDKN2D", "cyclin-dependent kinase inhibitor 2d", "p19(ink4d)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1032 ; - skos:exactMatch HGNC_symbol:CDKN2D ; + skos:exactMatch UMLS:C1413292, + HGNC:1790, + HGNC_symbol:CDKN2D ; biolink:category biolink:Gene . OMIM:600928 a owl:Class ; @@ -129991,14 +133505,15 @@ OMIM:600928 a owl:Class ; PMID:8575760 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:617118 ; - oboInOwl:hasDbXref UMLS:C1422420 ; oboInOwl:hasExactSynonym "NPRL3", "chromosome 16 open reading frame 35", "conserved gene telomeric to alpha globin cluster", "nitrogen permease regulator-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8131 ; - skos:exactMatch HGNC_symbol:NPRL3 ; + skos:exactMatch UMLS:C1422420, + HGNC:14124, + HGNC_symbol:NPRL3 ; biolink:category biolink:Gene . OMIM:600929 a owl:Class ; @@ -130013,12 +133528,13 @@ OMIM:600929 a owl:Class ; PMID:8575764 ; RO:0002525 CHR:9606chr22q12.1 ; RO:0003303 OMIM:611544 ; - oboInOwl:hasDbXref UMLS:C1413729 ; oboInOwl:hasExactSynonym "CRYBB1", "crystallin, beta-b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1414 ; - skos:exactMatch HGNC_symbol:CRYBB1 ; + skos:exactMatch UMLS:C1413729, + HGNC:2397, + HGNC_symbol:CRYBB1 ; biolink:category biolink:Gene . OMIM:600930 a owl:Class ; @@ -130028,21 +133544,22 @@ OMIM:600930 a owl:Class ; PMID:8234258, PMID:8282124, PMID:8575780 ; - oboInOwl:hasDbXref UMLS:C1335859 ; oboInOwl:hasExactSynonym "SPAM1", "ph20", "sperm adhesion molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6677 ; - skos:exactMatch HGNC_symbol:SPAM1 ; + skos:exactMatch UMLS:C1335859, + HGNC:11217, + HGNC_symbol:SPAM1 ; biolink:category biolink:Gene . OMIM:600931 a owl:Class ; rdfs:label "protocadherin 3" ; IAO:0000142 PMID:8575755 ; - oboInOwl:hasDbXref UMLS:C1833117 ; oboInOwl:hasExactSynonym "pcdh3", - "protocadherin 3" . + "protocadherin 3" ; + skos:exactMatch UMLS:C1833117 . OMIM:600932 a owl:Class ; rdfs:label "KCNJ9" ; @@ -130050,13 +133567,14 @@ OMIM:600932 a owl:Class ; PMID:18194467, PMID:7926018, PMID:8575783 ; - oboInOwl:hasDbXref UMLS:C1416590 ; oboInOwl:hasExactSynonym "KCNJ9", "g protein-coupled inward rectifier potassium channel", "potassium inwardly-rectifying channel, subfamily j, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3765 ; - skos:exactMatch HGNC_symbol:KCNJ9 ; + skos:exactMatch UMLS:C1416590, + HGNC:6270, + HGNC_symbol:KCNJ9 ; biolink:category biolink:Gene . OMIM:600933 a owl:Class ; @@ -130069,7 +133587,6 @@ OMIM:600933 a owl:Class ; PMID:29562231, PMID:7556175, PMID:7937743 ; - oboInOwl:hasDbXref UMLS:C1414506 ; oboInOwl:hasExactSynonym "F2RL1", "coagulation factor 2 receptor-like 1", "g protein-coupled receptor 11", @@ -130077,7 +133594,9 @@ OMIM:600933 a owl:Class ; "proteinase-activated receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2150 ; - skos:exactMatch HGNC_symbol:F2RL1 ; + skos:exactMatch UMLS:C1414506, + HGNC:3538, + HGNC_symbol:F2RL1 ; biolink:category biolink:Gene . OMIM:600934 a owl:Class ; @@ -130092,7 +133611,6 @@ OMIM:600934 a owl:Class ; PMID:8595888, PMID:9691167, PMID:9838072 ; - oboInOwl:hasDbXref UMLS:C1333570 ; oboInOwl:hasExactSynonym "FOLH1", "folate hydrolase 1", "folh", @@ -130102,7 +133620,9 @@ OMIM:600934 a owl:Class ; "prostate-specific membrane antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2346 ; - skos:exactMatch HGNC_symbol:FOLH1 ; + skos:exactMatch UMLS:C1333570, + HGNC:3788, + HGNC_symbol:FOLH1 ; biolink:category biolink:Gene . OMIM:600935 a owl:Class ; @@ -130125,13 +133645,14 @@ OMIM:600935 a owl:Class ; PMID:7890693, PMID:8465723, PMID:8595887 ; - oboInOwl:hasDbXref UMLS:C1416589 ; oboInOwl:hasExactSynonym "KCNJ8", "inwardly rectifying potassium channel kir6.1", "potassium channel, inwardly rectifying, subfamily j, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3764 ; - skos:exactMatch HGNC_symbol:KCNJ8 ; + skos:exactMatch UMLS:C1416589, + HGNC:6269, + HGNC_symbol:KCNJ8 ; biolink:category biolink:Gene . OMIM:600936 a owl:Class ; @@ -130145,13 +133666,14 @@ OMIM:600936 a owl:Class ; PMID:8595891 ; RO:0002525 CHR:9606chr5q34 ; RO:0003303 OMIM:114480 ; - oboInOwl:hasDbXref UMLS:C1333919 ; oboInOwl:hasExactSynonym "HMMR", "hyaluronan-mediated motility receptor", "rhamm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3161 ; - skos:exactMatch HGNC_symbol:HMMR ; + skos:exactMatch UMLS:C1333919, + HGNC:5012, + HGNC_symbol:HMMR ; biolink:category biolink:Gene . OMIM:600937 a owl:Class ; @@ -130203,14 +133725,6 @@ OMIM:600937 a owl:Class ; PMID:9867219 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1416578, - UMLS:C1864623, - UMLS:C2931833, - UMLS:C3152078, - UMLS:C3837967, - UMLS:C4225365, - UMLS:C5394296, - UMLS:C5394568 ; oboInOwl:hasExactSynonym "KCNJ11", "beta-cell inward rectifier subunit", "inwardly rectifying potassium channel kir6.2", @@ -130218,7 +133732,16 @@ OMIM:600937 a owl:Class ; "potassium channel, inwardly rectifying, subfamily j, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3767 ; - skos:exactMatch HGNC_symbol:KCNJ11 ; + skos:exactMatch UMLS:C1416578, + UMLS:C1864623, + UMLS:C2931833, + UMLS:C3152078, + UMLS:C3837967, + UMLS:C4225365, + UMLS:C5394296, + UMLS:C5394568, + HGNC:6257, + HGNC_symbol:KCNJ11 ; biolink:category biolink:Gene . OMIM:600938 a owl:Class ; @@ -130227,7 +133750,6 @@ OMIM:600938 a owl:Class ; PMID:17470788, PMID:30550789, PMID:8595913 ; - oboInOwl:hasDbXref UMLS:C1419291 ; oboInOwl:hasExactSynonym "RBBP6", "p2pr", "p53-associated cellular protein, testis-derived", @@ -130235,7 +133757,9 @@ OMIM:600938 a owl:Class ; "snama, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5930 ; - skos:exactMatch HGNC_symbol:RBBP6 ; + skos:exactMatch UMLS:C1419291, + HGNC:9889, + HGNC_symbol:RBBP6 ; biolink:category biolink:Gene . OMIM:600939 a owl:Class ; @@ -130249,13 +133773,14 @@ OMIM:600939 a owl:Class ; PMID:9632650 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:614188 ; - oboInOwl:hasDbXref UMLS:C1334099 ; oboInOwl:hasExactSynonym "IL11RA", "il11ra/galt spliced read-through transcript", "interleukin 11 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3590 ; - skos:exactMatch HGNC_symbol:IL11RA ; + skos:exactMatch UMLS:C1334099, + HGNC:5967, + HGNC_symbol:IL11RA ; biolink:category biolink:Gene . OMIM:600940 a owl:Class ; @@ -130267,13 +133792,14 @@ OMIM:600940 a owl:Class ; PMID:7760816 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:619780 ; - oboInOwl:hasDbXref UMLS:C1416853 ; oboInOwl:hasExactSynonym "DNA ligase 3", "LIG3", "ligase iii, dna, atp-dependent" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3980 ; - skos:exactMatch HGNC_symbol:LIG3 ; + skos:exactMatch UMLS:C1416853, + HGNC:6600, + HGNC_symbol:LIG3 ; biolink:category biolink:Gene . OMIM:600942 a owl:Class ; @@ -130290,12 +133816,13 @@ OMIM:600944 a owl:Class ; PMID:8812510 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:618480 ; - oboInOwl:hasDbXref UMLS:C1367701 ; oboInOwl:hasExactSynonym "DHPS", "deoxyhypusine synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1725 ; - skos:exactMatch HGNC_symbol:DHPS ; + skos:exactMatch UMLS:C1367701, + HGNC:2869, + HGNC_symbol:DHPS ; biolink:category biolink:Gene . OMIM:600945 a owl:Class ; @@ -130306,13 +133833,14 @@ OMIM:600945 a owl:Class ; PMID:8612563, PMID:8703220, PMID:9628819 ; - oboInOwl:hasDbXref UMLS:C1421312 ; oboInOwl:hasExactSynonym "UCN", "urocortin", "urotensin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7349 ; - skos:exactMatch HGNC_symbol:UCN ; + skos:exactMatch UMLS:C1421312, + HGNC:12516, + HGNC_symbol:UCN ; biolink:category biolink:Gene . OMIM:600946 a owl:Class ; @@ -130383,19 +133911,20 @@ OMIM:600946 a owl:Class ; PMID:9851797 ; RO:0002525 CHR:9606chr5p13.1-p12 ; RO:0003303 OMIM:143890 ; - oboInOwl:hasDbXref UMLS:C0271568, - UMLS:C1415063, - UMLS:C1858656, - UMLS:C3888131, - UMLS:C4016705, - UMLS:C4016706, - UMLS:C4016707 ; oboInOwl:hasExactSynonym "GHR", "growth hormone receptor", "growth hormone-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2690 ; - skos:exactMatch HGNC_symbol:GHR ; + skos:exactMatch UMLS:C0271568, + UMLS:C1415063, + UMLS:C1858656, + UMLS:C3888131, + UMLS:C4016705, + UMLS:C4016706, + UMLS:C4016707, + HGNC:4263, + HGNC_symbol:GHR ; biolink:category biolink:Gene . OMIM:600947 a owl:Class ; @@ -130416,35 +133945,37 @@ OMIM:600947 a owl:Class ; PMID:9599014, PMID:9657855, PMID:9668110 ; - oboInOwl:hasDbXref UMLS:C1415470 ; oboInOwl:hasExactSynonym "HAP1", "hap2", "huntingtin-associated protein 1", "neuroan 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9001 ; - skos:exactMatch HGNC_symbol:HAP1 ; + skos:exactMatch UMLS:C1415470, + HGNC:4812, + HGNC_symbol:HAP1 ; biolink:category biolink:Gene . OMIM:600948 a owl:Class ; rdfs:label "MOBP" ; IAO:0000142 PMID:7989345, PMID:8875894 ; - oboInOwl:hasDbXref UMLS:C1417223 ; oboInOwl:hasExactSynonym "MOBP", "myelin-associated oligodendrocyte basic protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4336 ; - skos:exactMatch HGNC_symbol:MOBP ; + skos:exactMatch UMLS:C1417223, + HGNC:7189, + HGNC_symbol:MOBP ; biolink:category biolink:Gene . OMIM:600949 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:7959766 ; - oboInOwl:hasDbXref UMLS:C1416160 ; oboInOwl:hasExactSynonym "igv2", "immunoglobulin heavy chain variable region-2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1416160 ; biolink:category biolink:Gene . OMIM:600950 a owl:Class ; @@ -130463,13 +133994,14 @@ OMIM:600950 a owl:Class ; PMID:8661026, PMID:9478897, PMID:9605843 ; - oboInOwl:hasDbXref UMLS:C1412053 ; oboInOwl:hasExactSynonym "AANAT", "arylalkylamine n-acetyltransferase", "serotonin n-acetyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:15 ; - skos:exactMatch HGNC_symbol:AANAT ; + skos:exactMatch UMLS:C1412053, + HGNC:19, + HGNC_symbol:AANAT ; biolink:category biolink:Gene . OMIM:600951 a owl:Class ; @@ -130494,7 +134026,6 @@ OMIM:600951 a owl:Class ; PMID:9020083, PMID:9034193, PMID:9542529 ; - oboInOwl:hasDbXref UMLS:C1336604 ; oboInOwl:hasExactSynonym "TERF1", "pin2", "telomeric repeat-binding factor 1", @@ -130502,15 +134033,17 @@ OMIM:600951 a owl:Class ; "trf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7013 ; - skos:exactMatch HGNC_symbol:TERF1 ; + skos:exactMatch UMLS:C1336604, + HGNC:11728, + HGNC_symbol:TERF1 ; biolink:category biolink:Gene . OMIM:600952 a owl:Class ; rdfs:label "transsexuality" ; IAO:0000142 PMID:7477276, PMID:7477289 ; - oboInOwl:hasDbXref UMLS:C1833064 ; - oboInOwl:hasExactSynonym "transsexuality" . + oboInOwl:hasExactSynonym "transsexuality" ; + skos:exactMatch UMLS:C1833064 . OMIM:600953 a owl:Class ; rdfs:label "IL18" ; @@ -130542,26 +134075,28 @@ OMIM:600953 a owl:Class ; PMID:9022066, PMID:9022080, PMID:9693051 ; - oboInOwl:hasDbXref UMLS:C1334109 ; oboInOwl:hasExactSynonym "IL18", "interferon-gamma-inducing factor", "interleukin 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3606 ; - skos:exactMatch HGNC_symbol:IL18 ; + skos:exactMatch UMLS:C1334109, + HGNC:5986, + HGNC_symbol:IL18 ; biolink:category biolink:Gene . OMIM:600954 a owl:Class ; rdfs:label "DAP" ; IAO:0000142 PMID:7828849, PMID:8530096 ; - oboInOwl:hasDbXref UMLS:C1413904 ; oboInOwl:hasExactSynonym "DAP", "dap1", "death-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1611 ; - skos:exactMatch HGNC_symbol:DAP ; + skos:exactMatch UMLS:C1413904, + HGNC:2672, + HGNC_symbol:DAP ; biolink:category biolink:Gene . OMIM:600955 a owl:Class ; @@ -130571,9 +134106,9 @@ OMIM:600955 a owl:Class ; PMID:7477119, PMID:7663508, PMID:9207799 ; - oboInOwl:hasDbXref UMLS:C1833053 ; oboInOwl:hasExactSynonym "obesity and endocrinopathy due to impaired processing of prohormones", "proprotein convertase 1/3 deficiency" ; + skos:exactMatch UMLS:C1833053 ; biolink:category biolink:Disease . OMIM:600956 a owl:Class ; @@ -130587,14 +134122,15 @@ OMIM:600956 a owl:Class ; PMID:9501316 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:261550 ; - oboInOwl:hasDbXref UMLS:C1332084 ; oboInOwl:hasExactSynonym "AMHR2", "anti-mullerian hormone iia 2 receptor", "anti-mullerian hormone receptor", "mullerian inhibiting substance iia 2 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:269 ; - skos:exactMatch HGNC_symbol:AMHR2 ; + skos:exactMatch UMLS:C1332084, + HGNC:465, + HGNC_symbol:AMHR2 ; biolink:category biolink:Gene . OMIM:600957 a owl:Class ; @@ -130625,14 +134161,15 @@ OMIM:600957 a owl:Class ; PMID:9154774 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:261550 ; - oboInOwl:hasDbXref UMLS:C1412384 ; oboInOwl:hasExactSynonym "AMH", "anti-mullerian hormone", "mullerian-inhibiting factor", "mullerian-inhibiting substance" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:268 ; - skos:exactMatch HGNC_symbol:AMH ; + skos:exactMatch UMLS:C1412384, + HGNC:464, + HGNC_symbol:AMH ; biolink:category biolink:Gene . OMIM:600958 a owl:Class ; @@ -130681,12 +134218,13 @@ OMIM:600958 a owl:Class ; PMID:9769321 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:615396 ; - oboInOwl:hasDbXref UMLS:C1417523 ; oboInOwl:hasExactSynonym "MYBPC3", "myosin-binding protein c, cardiac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4607 ; - skos:exactMatch HGNC_symbol:MYBPC3 ; + skos:exactMatch UMLS:C1417523, + HGNC:7551, + HGNC_symbol:MYBPC3 ; biolink:category biolink:Gene . OMIM:600959 a owl:Class ; @@ -130696,14 +134234,15 @@ OMIM:600959 a owl:Class ; PMID:7982906 ; RO:0002525 CHR:9606chr11p15.2 ; RO:0003303 OMIM:619255 ; - oboInOwl:hasDbXref UMLS:C1824775 ; oboInOwl:hasExactSynonym "COPB1", "beta coat protein", "coatomer protein complex, subunit beta", "coatomer protein complex, subunit beta 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1315 ; - skos:exactMatch HGNC_symbol:COPB1 ; + skos:exactMatch UMLS:C1824775, + HGNC:2231, + HGNC_symbol:COPB1 ; biolink:category biolink:Gene . OMIM:600960 a owl:Class ; @@ -130721,7 +134260,6 @@ OMIM:600960 a owl:Class ; PMID:9773788 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:618106 ; - oboInOwl:hasDbXref UMLS:C1366517 ; oboInOwl:hasExactSynonym "SET", "inhibitor of gzma-activated dnase", "set nuclear protooncogene", @@ -130729,7 +134267,9 @@ OMIM:600960 a owl:Class ; "tafi-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6418 ; - skos:exactMatch HGNC_symbol:SET ; + skos:exactMatch UMLS:C1366517, + HGNC:10760, + HGNC_symbol:SET ; biolink:category biolink:Gene . OMIM:600961 a owl:Class ; @@ -130754,14 +134294,15 @@ OMIM:600963 a owl:Class ; PMID:9949207 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:610896 ; - oboInOwl:hasDbXref UMLS:C1420076 ; oboInOwl:hasExactSynonym "SIX5", "dm locus-associated homeodomain protein", "sine oculis homeobox, drosophila, homolog of, 5", "six homeobox 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147912 ; - skos:exactMatch HGNC_symbol:SIX5 ; + skos:exactMatch UMLS:C1420076, + HGNC:10891, + HGNC_symbol:SIX5 ; biolink:category biolink:Gene . OMIM:600964 a owl:Class ; @@ -130779,7 +134320,6 @@ OMIM:600966 a owl:Class ; PMID:7542763, PMID:8565641, PMID:9177775 ; - oboInOwl:hasDbXref UMLS:C1416871 ; oboInOwl:hasExactSynonym "LLGL1", "dlg4, formerly", "hugl1", @@ -130788,7 +134328,9 @@ OMIM:600966 a owl:Class ; "llgl scribble cell polarity complex component 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3996 ; - skos:exactMatch HGNC_symbol:LLGL1 ; + skos:exactMatch UMLS:C1416871, + HGNC:6628, + HGNC_symbol:LLGL1 ; biolink:category biolink:Gene . OMIM:600967 a owl:Class ; @@ -130796,12 +134338,13 @@ OMIM:600967 a owl:Class ; IAO:0000142 PMID:11030352, PMID:12150994, PMID:7892279 ; - oboInOwl:hasDbXref UMLS:C1414228 ; oboInOwl:hasExactSynonym "E2F5", "e2f transcription factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1875 ; - skos:exactMatch HGNC_symbol:E2F5 ; + skos:exactMatch UMLS:C1414228, + HGNC:3119, + HGNC_symbol:E2F5 ; biolink:category biolink:Gene . OMIM:600968 a owl:Class ; @@ -130822,7 +134365,6 @@ OMIM:600968 a owl:Class ; PMID:8954067 ; RO:0002525 CHR:9606chr16q13 ; RO:0003303 OMIM:263800 ; - oboInOwl:hasDbXref UMLS:C1420092 ; oboInOwl:hasExactSynonym "SLC12A3", "sodium-chloride cotransporter", "sodium-chloride cotransporter, thiazide-sensitive", @@ -130830,7 +134372,9 @@ OMIM:600968 a owl:Class ; "thiazide-sensitive na-cl cotransporter" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6559 ; - skos:exactMatch HGNC_symbol:SLC12A3 ; + skos:exactMatch UMLS:C1420092, + HGNC:10912, + HGNC_symbol:SLC12A3 ; biolink:category biolink:Gene . OMIM:600969 a owl:Class ; @@ -130839,12 +134383,12 @@ OMIM:600969 a owl:Class ; PMID:10655510, PMID:15551337, PMID:8528240 ; - oboInOwl:hasDbXref UMLS:C1832998, - UMLS:C3152083 ; oboInOwl:hasExactSynonym "EDM3", "epiphyseal dysplasia, multiple, 3", "epiphyseal dysplasia, multiple, 3, with myopathy" ; rdfs:subClassOf OMIMPS:132400 ; + skos:exactMatch UMLS:C1832998, + UMLS:C3152083 ; biolink:category biolink:Disease . OMIM:600970 a owl:Class ; @@ -130873,12 +134417,13 @@ OMIM:600970 a owl:Class ; PMID:9259267 ; RO:0002525 CHR:9606chr6q14.1 ; RO:0003303 OMIM:607821 ; - oboInOwl:hasDbXref UMLS:C1417568 ; oboInOwl:hasExactSynonym "MYO6", "myosin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4646 ; - skos:exactMatch HGNC_symbol:MYO6 ; + skos:exactMatch UMLS:C1417568, + HGNC:7605, + HGNC_symbol:MYO6 ; biolink:category biolink:Gene . OMIM:600972 a owl:Class ; @@ -130894,11 +134439,11 @@ OMIM:600972 a owl:Class ; PMID:7977372, PMID:8528239, PMID:8950678 ; - oboInOwl:hasDbXref UMLS:C0265274 ; oboInOwl:hasExactSynonym "ACG1B", "achondrogenesis, iia 1b", "achondrogenesis, fraccaro iia" ; rdfs:subClassOf OMIMPS:200600 ; + skos:exactMatch UMLS:C0265274 ; biolink:category biolink:Disease . OMIM:600973 a owl:Class ; @@ -130920,14 +134465,15 @@ OMIM:600976 a owl:Class ; PMID:28129444, PMID:3417051, PMID:8586420 ; - oboInOwl:hasDbXref UMLS:C0812278, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "FAT1", "fat atypical cadherin 1", "fat tumor suppressor, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2195 ; - skos:exactMatch HGNC_symbol:FAT1 ; + skos:exactMatch UMLS:C0812278, + UMLS:C2986382, + HGNC:3595, + HGNC_symbol:FAT1 ; biolink:category biolink:Gene . OMIM:600978 a owl:Class ; @@ -130939,13 +134485,14 @@ OMIM:600978 a owl:Class ; PMID:8586432, PMID:8824804, PMID:9299492 ; - oboInOwl:hasDbXref UMLS:C0812309 ; oboInOwl:hasExactSynonym "LTB", "lymphotoxin-beta", "tumor necrosis factor c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4050 ; - skos:exactMatch HGNC_symbol:LTB ; + skos:exactMatch UMLS:C0812309, + HGNC:6711, + HGNC_symbol:LTB ; biolink:category biolink:Gene . OMIM:600979 a owl:Class ; @@ -130958,7 +134505,6 @@ OMIM:600979 a owl:Class ; PMID:8171323, PMID:8342023, PMID:8586432 ; - oboInOwl:hasDbXref UMLS:C1416931 ; oboInOwl:hasExactSynonym "LTBR", "lt-beta-r", "lymphotoxin B receptor", @@ -130966,7 +134512,9 @@ OMIM:600979 a owl:Class ; "tumor necrosis factor c receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4055 ; - skos:exactMatch HGNC_symbol:LTBR ; + skos:exactMatch UMLS:C1416931, + HGNC:6718, + HGNC_symbol:LTBR ; biolink:category biolink:Gene . OMIM:600980 a owl:Class ; @@ -130983,24 +134531,26 @@ OMIM:600980 a owl:Class ; PMID:9177774 ; RO:0002525 CHR:9606chr4q22.1 ; RO:0003303 OMIM:241520 ; - oboInOwl:hasDbXref UMLS:C1414084 ; oboInOwl:hasExactSynonym "DMP1", "dentin matrix acidic phosphoprotein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1758 ; - skos:exactMatch HGNC_symbol:DMP1 ; + skos:exactMatch UMLS:C1414084, + HGNC:2932, + HGNC_symbol:DMP1 ; biolink:category biolink:Gene . OMIM:600981 a owl:Class ; rdfs:label "PGM5" ; IAO:0000142 PMID:12421752, PMID:8586438 ; - oboInOwl:hasDbXref UMLS:C1418519 ; oboInOwl:hasExactSynonym "PGM5", "phosphoglucomutase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5239 ; - skos:exactMatch HGNC_symbol:PGM5 ; + skos:exactMatch UMLS:C1418519, + HGNC:8908, + HGNC_symbol:PGM5 ; biolink:category biolink:Gene . OMIM:600982 a owl:Class ; @@ -131025,7 +134575,6 @@ OMIM:600982 a owl:Class ; PMID:9836645 ; RO:0002525 CHR:9606chr5q11.2 ; RO:0003303 OMIM:613762 ; - oboInOwl:hasDbXref UMLS:C1367675 ; oboInOwl:hasExactSynonym "MAP3K1", "map/erk kinase kinase 1", "mapkkk1", @@ -131033,7 +134582,9 @@ OMIM:600982 a owl:Class ; "mitogen-activated kinase kinase kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4214 ; - skos:exactMatch HGNC_symbol:MAP3K1 ; + skos:exactMatch UMLS:C1367675, + HGNC:6848, + HGNC_symbol:MAP3K1 ; biolink:category biolink:Gene . OMIM:600983 a owl:Class ; @@ -131069,27 +134620,29 @@ OMIM:600983 a owl:Class ; PMID:9724527 ; RO:0002525 CHR:9606chr4q31.23 ; RO:0003303 OMIM:177735 ; - oboInOwl:hasDbXref UMLS:C1417835 ; oboInOwl:hasExactSynonym "NR3C2", "aldosterone receptor", "mineralocorticoid receptor", "nuclear receptor subfamily 3, group c, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4306 ; - skos:exactMatch HGNC_symbol:NR3C2 ; + skos:exactMatch UMLS:C1417835, + HGNC:7979, + HGNC_symbol:NR3C2 ; biolink:category biolink:Gene . OMIM:600984 a owl:Class ; rdfs:label "ATF6B" ; IAO:0000142 PMID:8586413 ; - oboInOwl:hasDbXref UMLS:C1413704 ; oboInOwl:hasExactSynonym "ATF6B", "activating transcription factor 6, beta", "camp response element-binding protein-like 1", "creb-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1388 ; - skos:exactMatch HGNC_symbol:ATF6B ; + skos:exactMatch UMLS:C1413704, + HGNC:2349, + HGNC_symbol:ATF6B ; biolink:category biolink:Gene . OMIM:600985 a owl:Class ; @@ -131116,7 +134669,6 @@ OMIM:600985 a owl:Class ; PMID:9795100 ; RO:0002525 CHR:9606chr6p21.33-p21.32 ; RO:0003303 OMIM:615963 ; - oboInOwl:hasDbXref UMLS:C1420850 ; oboInOwl:hasExactSynonym "TNXB", "hexabrachion-like", "tenascin 10", @@ -131125,21 +134677,24 @@ OMIM:600985 a owl:Class ; "tenascin xb, isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7148 ; - skos:exactMatch HGNC_symbol:TNXB ; + skos:exactMatch UMLS:C1420850, + HGNC:11976, + HGNC_symbol:TNXB ; biolink:category biolink:Gene . OMIM:600986 a owl:Class ; rdfs:label "TRIM46" ; IAO:0000142 PMID:16434393, PMID:8597643 ; - oboInOwl:hasDbXref UMLS:C1425956 ; oboInOwl:hasExactSynonym "TRIM46", "gene y", "trific", "tripartite motif-containing protein 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80128 ; - skos:exactMatch HGNC_symbol:TRIM46 ; + skos:exactMatch UMLS:C1425956, + HGNC:19019, + HGNC_symbol:TRIM46 ; biolink:category biolink:Gene . OMIM:600988 a owl:Class ; @@ -131147,20 +134702,21 @@ OMIM:600988 a owl:Class ; IAO:0000142 PMID:11778047, PMID:16754854, PMID:8524845 ; - oboInOwl:hasDbXref UMLS:C1416996 ; oboInOwl:hasExactSynonym "MAN2A2", "mana2x", "mannosidase, alpha, class 2a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4122 ; - skos:exactMatch HGNC_symbol:MAN2A2 ; + skos:exactMatch UMLS:C1416996, + HGNC:6825, + HGNC_symbol:MAN2A2 ; biolink:category biolink:Gene . OMIM:600989 a owl:Class ; rdfs:label "infundibulopelvic dysgenesis" ; IAO:0000142 PMID:8588589 ; - oboInOwl:hasDbXref UMLS:C1832949 ; - oboInOwl:hasExactSynonym "infundibulopelvic dysgenesis" . + oboInOwl:hasExactSynonym "infundibulopelvic dysgenesis" ; + skos:exactMatch UMLS:C1832949 . OMIM:600990 a owl:Class ; IAO:0100001 OMIM:119580 ; @@ -131170,8 +134726,8 @@ OMIM:600991 a owl:Class ; rdfs:label "hydrocephalus, sprengel anomaly, and costovertebral dysplasia" ; IAO:0000142 PMID:6893487, PMID:8585573 ; - oboInOwl:hasDbXref UMLS:C3551260 ; - oboInOwl:hasExactSynonym "hydrocephalus, sprengel anomaly, and costovertebral dysplasia" . + oboInOwl:hasExactSynonym "hydrocephalus, sprengel anomaly, and costovertebral dysplasia" ; + skos:exactMatch UMLS:C3551260 . OMIM:600992 a owl:Class ; IAO:0100001 OMIM:206900 ; @@ -131232,12 +134788,6 @@ OMIM:600993 a owl:Class ; PMID:9811934 ; RO:0002525 CHR:9606chr18q21.2 ; RO:0003303 OMIM:174900 ; - oboInOwl:hasDbXref UMLS:C0345893, - UMLS:C0694891, - UMLS:C0796081, - UMLS:C1832940, - UMLS:C1832942, - UMLS:C3836560 ; oboInOwl:hasExactSynonym "SMAD4", "deleted 1n pancreatic carcinoma 4", "mothers against decapentaplegic, drosophila, homolog of, 4", @@ -131245,7 +134795,14 @@ OMIM:600993 a owl:Class ; "smad family member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4089 ; - skos:exactMatch HGNC_symbol:SMAD4 ; + skos:exactMatch UMLS:C0345893, + UMLS:C0694891, + UMLS:C0796081, + UMLS:C1832940, + UMLS:C1832942, + UMLS:C3836560, + HGNC:6770, + HGNC_symbol:SMAD4 ; biolink:category biolink:Gene . OMIM:600996 a owl:Class ; @@ -131253,11 +134810,11 @@ OMIM:600996 a owl:Class ; IAO:0000142 PMID:11159936, PMID:15336976, PMID:8589694 ; - oboInOwl:hasDbXref UMLS:C1832931 ; oboInOwl:hasExactSynonym "ARVD2", "arrhythmogenic right ventricular cardiomyopathy 2", "arrhythmogenic right ventricular dysplasia, familial, 2" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1832931 ; biolink:category biolink:Disease . OMIM:600997 a owl:Class ; @@ -131295,7 +134852,6 @@ OMIM:600997 a owl:Class ; PMID:8689685 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:603688 ; - oboInOwl:hasDbXref UMLS:C1333340 ; oboInOwl:hasExactSynonym "EPHB2", "developmentally regulated eph-related tyrosine kinase", "elk-related tyrosine kinase", @@ -131304,7 +134860,9 @@ OMIM:600997 a owl:Class ; "hek5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2048 ; - skos:exactMatch HGNC_symbol:EPHB2 ; + skos:exactMatch UMLS:C1333340, + HGNC:3393, + HGNC_symbol:EPHB2 ; biolink:category biolink:Gene . OMIM:600998 a owl:Class ; @@ -131337,16 +134895,17 @@ OMIM:600998 a owl:Class ; PMID:9707614 ; RO:0002525 CHR:9606chr9q21.2 ; RO:0003303 OMIM:185300 ; - oboInOwl:hasDbXref UMLS:C1333685, - UMLS:C3806954, - UMLS:C4016711 ; oboInOwl:hasExactSynonym "GNAQ", "g protein, alpha subunit, gq class", "g-alpha-q", "guanine nucleotide-binding protein, q polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2776 ; - skos:exactMatch HGNC_symbol:GNAQ ; + skos:exactMatch UMLS:C1333685, + UMLS:C3806954, + UMLS:C4016711, + HGNC:4390, + HGNC_symbol:GNAQ ; biolink:category biolink:Gene . OMIM:600999 a owl:Class ; @@ -131357,14 +134916,15 @@ OMIM:600999 a owl:Class ; PMID:8831693, PMID:9685418, PMID:9790757 ; - oboInOwl:hasDbXref UMLS:C1417047 ; oboInOwl:hasExactSynonym "MAZ", "myc-associated zinc finger protein", "pur1, mouse, homolog of", "zf87" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4150 ; - skos:exactMatch HGNC_symbol:MAZ ; + skos:exactMatch UMLS:C1417047, + HGNC:6914, + HGNC_symbol:MAZ ; biolink:category biolink:Gene . OMIM:601000 a owl:Class ; @@ -131381,10 +134941,10 @@ OMIM:601001 a owl:Class ; PMID:7526933, PMID:7534039, PMID:9284105 ; - oboInOwl:hasDbXref UMLS:C3715082 ; oboInOwl:hasExactSynonym "EBS1D", "epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C3715082 ; biolink:category biolink:Disease . OMIM:601002 a owl:Class ; @@ -131398,20 +134958,21 @@ OMIM:601002 a owl:Class ; PMID:9215686 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:231900 ; - oboInOwl:hasDbXref UMLS:C1415327 ; oboInOwl:hasExactSynonym "GSS", "glutathione synthetase", "gshs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2937 ; - skos:exactMatch HGNC_symbol:GSS ; + skos:exactMatch UMLS:C1415327, + HGNC:4624, + HGNC_symbol:GSS ; biolink:category biolink:Gene . OMIM:601004 a owl:Class ; rdfs:label "portal vein, cavernous transformation of" ; IAO:0000142 PMID:8523216 ; - oboInOwl:hasDbXref UMLS:C1832917 ; - oboInOwl:hasExactSynonym "portal vein, cavernous transformation of" . + oboInOwl:hasExactSynonym "portal vein, cavernous transformation of" ; + skos:exactMatch UMLS:C1832917 . OMIM:601006 a owl:Class ; IAO:0100001 OMIM:138890 ; @@ -131469,13 +135030,14 @@ OMIM:601007 a owl:Class ; PMID:9733517 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:614963 ; - oboInOwl:hasDbXref UMLS:C1366515 ; oboInOwl:hasExactSynonym "LEPR", "leptin receptor", "obr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3953 ; - skos:exactMatch HGNC_symbol:LEPR ; + skos:exactMatch UMLS:C1366515, + HGNC:6554, + HGNC_symbol:LEPR ; biolink:category biolink:Gene . OMIM:601008 a owl:Class ; @@ -131495,13 +135057,14 @@ OMIM:601009 a owl:Class ; PMID:7682777, PMID:8395056, PMID:8825647 ; - oboInOwl:hasDbXref UMLS:C1420744 ; oboInOwl:hasExactSynonym "TJP1", "tight junction protein 1", "zona occludens 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7082 ; - skos:exactMatch HGNC_symbol:TJP1 ; + skos:exactMatch UMLS:C1420744, + HGNC:11827, + HGNC_symbol:TJP1 ; biolink:category biolink:Gene . OMIM:601010 a owl:Class ; @@ -131511,14 +135074,15 @@ OMIM:601010 a owl:Class ; PMID:8041747, PMID:8825648, PMID:8955271 ; - oboInOwl:hasDbXref UMLS:C1420633 ; oboInOwl:hasExactSynonym "TCF15", "ec2", "paraxis", "transcription factor 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6939 ; - skos:exactMatch HGNC_symbol:TCF15 ; + skos:exactMatch UMLS:C1420633, + HGNC:11627, + HGNC_symbol:TCF15 ; biolink:category biolink:Gene . OMIM:601011 a owl:Class ; @@ -131597,14 +135161,6 @@ OMIM:601011 a owl:Class ; PMID:9915947 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:183086 ; - oboInOwl:hasDbXref UMLS:C0752124, - UMLS:C1456413, - UMLS:C1720416, - UMLS:C1832884, - UMLS:C1832885, - UMLS:C1832903, - UMLS:C4016713, - UMLS:C4310716 ; oboInOwl:hasExactSynonym "CACNA1A", "alpha-1a c-terminal polypeptide", "alpha-1act", @@ -131614,7 +135170,16 @@ OMIM:601011 a owl:Class ; "cav2.1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:773 ; - skos:exactMatch HGNC_symbol:CACNA1A ; + skos:exactMatch UMLS:C0752124, + UMLS:C1456413, + UMLS:C1720416, + UMLS:C1832884, + UMLS:C1832885, + UMLS:C1832903, + UMLS:C4016713, + UMLS:C4310716, + HGNC:1388, + HGNC_symbol:CACNA1A ; biolink:category biolink:Gene . OMIM:601012 a owl:Class ; @@ -131632,16 +135197,17 @@ OMIM:601012 a owl:Class ; PMID:9030575 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:618497 ; - oboInOwl:hasDbXref UMLS:C1413056, - UMLS:C4015968, - UMLS:C5193128 ; oboInOwl:hasExactSynonym "CACNA1B", "calcium channel, 50 type, alpha-1 polypeptide, isoform 5", "calcium channel, voltage-dependent, n type, alpha-1b subunit", "cav2.2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:774 ; - skos:exactMatch HGNC_symbol:CACNA1B ; + skos:exactMatch UMLS:C1413056, + UMLS:C4015968, + UMLS:C5193128, + HGNC:1389, + HGNC_symbol:CACNA1B ; biolink:category biolink:Gene . OMIM:601013 a owl:Class ; @@ -131655,15 +135221,16 @@ OMIM:601013 a owl:Class ; PMID:9656471 ; RO:0002525 CHR:9606chr1q25.3 ; RO:0003303 OMIM:618285 ; - oboInOwl:hasDbXref UMLS:C1413059, - UMLS:C4748988 ; oboInOwl:hasExactSynonym "CACNA1E", "calcium channel, 50 type, alpha-1 polypeptide, isoform 6", "calcium channel, r iia", "calcium channel, voltage-dependent, alpha-1e subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:777 ; - skos:exactMatch HGNC_symbol:CACNA1E ; + skos:exactMatch UMLS:C1413059, + UMLS:C4748988, + HGNC:1392, + HGNC_symbol:CACNA1E ; biolink:category biolink:Gene . OMIM:601014 a owl:Class ; @@ -131682,14 +135249,15 @@ OMIM:601014 a owl:Class ; PMID:8829552, PMID:9341123, PMID:9621517 ; - oboInOwl:hasDbXref UMLS:C1333225 ; oboInOwl:hasExactSynonym "DLG1", "discs large maguk scaffold protein 1", "discs large, drosophila, homolog of, 1", "synapse-associated protein 97" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1739 ; - skos:exactMatch HGNC_symbol:DLG1 ; + skos:exactMatch UMLS:C1333225, + HGNC:2900, + HGNC_symbol:DLG1 ; biolink:category biolink:Gene . OMIM:601015 a owl:Class ; @@ -131709,23 +135277,24 @@ OMIM:601015 a owl:Class ; PMID:8924505 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:607625 ; - oboInOwl:hasDbXref UMLS:C1422736, - UMLS:C1843366 ; oboInOwl:hasExactSynonym "NPC2", "epididymal secretory protein", "npc intracellular cholesterol transporter 2", "npc2 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10577 ; - skos:exactMatch HGNC_symbol:NPC2 ; + skos:exactMatch UMLS:C1422736, + UMLS:C1843366, + HGNC:14537, + HGNC_symbol:NPC2 ; biolink:category biolink:Gene . OMIM:601016 a owl:Class ; rdfs:label "midline malformations, multiple, with limb abnormalities and hypopituitarism" ; IAO:0000142 PMID:7778599 ; - oboInOwl:hasDbXref UMLS:C1832874 ; oboInOwl:hasExactSynonym "dincsoy syndrome", - "midline malformations, multiple, with limb abnormalities and hypopituitarism" . + "midline malformations, multiple, with limb abnormalities and hypopituitarism" ; + skos:exactMatch UMLS:C1832874 . OMIM:601017 a owl:Class ; rdfs:label "SNTA1" ; @@ -131738,14 +135307,15 @@ OMIM:601017 a owl:Class ; PMID:8576247 ; RO:0002525 CHR:9606chr20q11.21 ; RO:0003303 OMIM:612955 ; - oboInOwl:hasDbXref UMLS:C1420296 ; oboInOwl:hasExactSynonym "SNTA1", "pro-tgf-alpha cytoplasmic domain-interacting protein 1", "snt1", "syntrophin, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6640 ; - skos:exactMatch HGNC_symbol:SNTA1 ; + skos:exactMatch UMLS:C1420296, + HGNC:11167, + HGNC_symbol:SNTA1 ; biolink:category biolink:Gene . OMIM:601018 a owl:Class ; @@ -131766,8 +135336,6 @@ OMIM:601019 a owl:Class ; PMID:9786914 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:617301 ; - oboInOwl:hasDbXref UMLS:C1420220, - UMLS:C1832872 ; oboInOwl:hasExactSynonym "SLC6A9", "glycine transporter 1a", "glycine transporter 1b", @@ -131775,7 +135343,10 @@ OMIM:601019 a owl:Class ; "solute carrier family 6 (neurotransmitter transporter, glycine), member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6536 ; - skos:exactMatch HGNC_symbol:SLC6A9 ; + skos:exactMatch UMLS:C1420220, + UMLS:C1832872, + HGNC:11056, + HGNC_symbol:SLC6A9 ; biolink:category biolink:Gene . OMIM:601020 a owl:Class ; @@ -131788,7 +135359,6 @@ OMIM:601020 a owl:Class ; PMID:7541777, PMID:7694363, PMID:9250865 ; - oboInOwl:hasDbXref UMLS:C1413243 ; oboInOwl:hasExactSynonym "CD86", "b-lymphocyte activation antigen b7-2", "b72 antigen", @@ -131796,7 +135366,9 @@ OMIM:601020 a owl:Class ; "cd86 antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:942 ; - skos:exactMatch HGNC_symbol:CD86 ; + skos:exactMatch UMLS:C1413243, + HGNC:1705, + HGNC_symbol:CD86 ; biolink:category biolink:Gene . OMIM:601021 a owl:Class ; @@ -131837,21 +135409,6 @@ OMIM:601021 a owl:Class ; PMID:8563753, PMID:8563754, PMID:9166830 ; - oboInOwl:hasDbXref UMLS:C1334913, - UMLS:C1832869, - UMLS:C1832870, - UMLS:C1832871, - UMLS:C1840501, - UMLS:C1840515, - UMLS:C1840524, - UMLS:C1846840, - UMLS:C1847677, - UMLS:C1852035, - UMLS:C3275870, - UMLS:C3809232, - UMLS:C3888128, - UMLS:C3888130, - UMLS:C4225441 ; oboInOwl:hasExactSynonym "NUP98", "nub98/phf23 fusion gene", "nub98/rarg fusion gene", @@ -131872,7 +135429,23 @@ OMIM:601021 a owl:Class ; "nup98/top1 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4928 ; - skos:exactMatch HGNC_symbol:NUP98 ; + skos:exactMatch UMLS:C1334913, + UMLS:C1832869, + UMLS:C1832870, + UMLS:C1832871, + UMLS:C1840501, + UMLS:C1840515, + UMLS:C1840524, + UMLS:C1846840, + UMLS:C1847677, + UMLS:C1852035, + UMLS:C3275870, + UMLS:C3809232, + UMLS:C3888128, + UMLS:C3888130, + UMLS:C4225441, + HGNC:8068, + HGNC_symbol:NUP98 ; biolink:category biolink:Gene . OMIM:601022 a owl:Class ; @@ -131884,8 +135457,6 @@ OMIM:601022 a owl:Class ; PMID:8081366 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:180300 ; - oboInOwl:hasDbXref UMLS:C1417711, - UMLS:C1833448 ; oboInOwl:hasExactSynonym "NFKBIL1", "inhibitor of kappa light chain gene enhancer 1n B cells-like", "nfkb inhibitor-like protein 1", @@ -131894,7 +135465,10 @@ OMIM:601022 a owl:Class ; "nuclear factor-kappa-b inhibitor-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4795 ; - skos:exactMatch HGNC_symbol:NFKBIL1 ; + skos:exactMatch UMLS:C1417711, + UMLS:C1833448, + HGNC:7800, + HGNC_symbol:NFKBIL1 ; biolink:category biolink:Gene . OMIM:601023 a owl:Class ; @@ -131947,20 +135521,21 @@ OMIM:601023 a owl:Class ; PMID:9321476 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:167320 ; - oboInOwl:hasDbXref UMLS:C1421437, - UMLS:C4225244, - UMLS:C5436279, - UMLS:C5436950, - UMLS:C5436951, - UMLS:C5436952, - UMLS:C5436953 ; oboInOwl:hasExactSynonym "VCP", "cdc48, yeast, homolog of", "p97", "valosin-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7415 ; - skos:exactMatch HGNC_symbol:VCP ; + skos:exactMatch UMLS:C1421437, + UMLS:C4225244, + UMLS:C5436279, + UMLS:C5436950, + UMLS:C5436951, + UMLS:C5436952, + UMLS:C5436953, + HGNC:12666, + HGNC_symbol:VCP ; biolink:category biolink:Gene . OMIM:601024 a owl:Class ; @@ -131973,8 +135548,6 @@ OMIM:601024 a owl:Class ; PMID:8595912 ; RO:0002525 CHR:9606chr3q27.1 ; RO:0003303 OMIM:618587 ; - oboInOwl:hasDbXref UMLS:C1412444, - UMLS:C5231497 ; oboInOwl:hasExactSynonym "AP2M1", "adaptor-related protein complex 2, mu-1 subunit", "clathrin adaptor complex ap2, mu subunit", @@ -131983,7 +135556,10 @@ OMIM:601024 a owl:Class ; "mu-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1173 ; - skos:exactMatch HGNC_symbol:AP2M1 ; + skos:exactMatch UMLS:C1412444, + UMLS:C5231497, + HGNC:564, + HGNC_symbol:AP2M1 ; biolink:category biolink:Gene . OMIM:601025 a owl:Class ; @@ -131991,7 +135567,6 @@ OMIM:601025 a owl:Class ; IAO:0000142 PMID:1969413, PMID:25061211, PMID:8595912 ; - oboInOwl:hasDbXref UMLS:C1412443 ; oboInOwl:hasExactSynonym "AP2B1", "adaptin, beta-2", "adaptor-related protein complex 2, beta-1 subunit", @@ -132000,14 +135575,15 @@ OMIM:601025 a owl:Class ; "clathrin-associated/assembly/adaptor protein, large, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163 ; - skos:exactMatch HGNC_symbol:AP2B1 ; + skos:exactMatch UMLS:C1412443, + HGNC:563, + HGNC_symbol:AP2B1 ; biolink:category biolink:Gene . OMIM:601026 a owl:Class ; rdfs:label "AP2A1" ; IAO:0000142 PMID:11532990, PMID:2564002 ; - oboInOwl:hasDbXref UMLS:C1412441 ; oboInOwl:hasExactSynonym "AP2A1", "adaptin, alpha", "adaptor-related protein complex 2, alpha-1 subunit", @@ -132016,14 +135592,16 @@ OMIM:601026 a owl:Class ; "clathrin-associated/assembly/adaptor protein, large, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160 ; - skos:exactMatch HGNC_symbol:AP2A1 ; + skos:exactMatch UMLS:C1412441, + HGNC:561, + HGNC_symbol:AP2A1 ; biolink:category biolink:Gene . OMIM:601027 a owl:Class ; rdfs:label "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" ; IAO:0000142 PMID:8592337 ; - oboInOwl:hasDbXref UMLS:C1832859 ; - oboInOwl:hasExactSynonym "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" . + oboInOwl:hasExactSynonym "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" ; + skos:exactMatch UMLS:C1832859 . OMIM:601028 a owl:Class ; rdfs:label "CD47" ; @@ -132039,7 +135617,6 @@ OMIM:601028 a owl:Class ; PMID:8294396, PMID:8563755, PMID:8864123 ; - oboInOwl:hasDbXref UMLS:C1332713 ; oboInOwl:hasExactSynonym "CD47", "cd47 antigen", "cd47 glycoprotein", @@ -132047,7 +135624,9 @@ OMIM:601028 a owl:Class ; "surface antigen identified by monoclonal antibody 1d8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:961 ; - skos:exactMatch HGNC_symbol:CD47 ; + skos:exactMatch UMLS:C1332713, + HGNC:1682, + HGNC_symbol:CD47 ; biolink:category biolink:Gene . OMIM:601029 a owl:Class ; @@ -132066,32 +135645,33 @@ OMIM:601029 a owl:Class ; PMID:9302270, PMID:9771709, PMID:9781054 ; - oboInOwl:hasDbXref UMLS:C1417122 ; oboInOwl:hasExactSynonym "MEST", "mesoderm-specific transcript", "mesoderm-specific transcript, mouse, homolog of", "paternally expressed gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4232 ; - skos:exactMatch HGNC_symbol:MEST ; + skos:exactMatch UMLS:C1417122, + HGNC:7028, + HGNC_symbol:MEST ; biolink:category biolink:Gene . OMIM:601030 a owl:Class ; rdfs:label "RNASE4" ; IAO:0000142 PMID:7501448 ; - oboInOwl:hasDbXref UMLS:C1419410 ; oboInOwl:hasExactSynonym "RNASE4", "ribonuclease, rnase a family, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6038 ; - skos:exactMatch HGNC_symbol:RNASE4 ; + skos:exactMatch UMLS:C1419410, + HGNC:10047, + HGNC_symbol:RNASE4 ; biolink:category biolink:Gene . OMIM:601031 a owl:Class ; rdfs:label "RHPN1" ; IAO:0000142 PMID:1643657, PMID:8571126 ; - oboInOwl:hasDbXref UMLS:C1426574 ; oboInOwl:hasExactSynonym "RHPN1", "outer dense fiber of sperm tails 5", "pkn-related rho-binding protein", @@ -132100,7 +135680,9 @@ OMIM:601031 a owl:Class ; "rhophilin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114822 ; - skos:exactMatch HGNC_symbol:RHPN1 ; + skos:exactMatch UMLS:C1426574, + HGNC:19973, + HGNC_symbol:RHPN1 ; biolink:category biolink:Gene . OMIM:601032 a owl:Class ; @@ -132112,7 +135694,6 @@ OMIM:601032 a owl:Class ; PMID:8135837, PMID:8571127, PMID:9570957 ; - oboInOwl:hasDbXref UMLS:C1538659 ; oboInOwl:hasExactSynonym "PKN1", "pak1, rat, homolog of", "pkn-alpha", @@ -132122,7 +135703,9 @@ OMIM:601032 a owl:Class ; "serine/threonine protein kinase n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5585 ; - skos:exactMatch HGNC_symbol:PKN1 ; + skos:exactMatch UMLS:C1538659, + HGNC:9405, + HGNC_symbol:PKN1 ; biolink:category biolink:Gene . OMIM:601033 a owl:Class ; @@ -132136,14 +135719,15 @@ OMIM:601033 a owl:Class ; PMID:7499364, PMID:9271224, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1416779 ; oboInOwl:hasExactSynonym "LAMA5", "kiaa0533", "kiaa1907", "laminin, alpha-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3911 ; - skos:exactMatch HGNC_symbol:LAMA5 ; + skos:exactMatch UMLS:C1416779, + HGNC:6485, + HGNC_symbol:LAMA5 ; biolink:category biolink:Gene . OMIM:601034 a owl:Class ; @@ -132156,14 +135740,15 @@ OMIM:601035 a owl:Class ; PMID:20308327, PMID:27117401, PMID:7499401 ; - oboInOwl:hasDbXref UMLS:C1415642 ; oboInOwl:hasExactSynonym "HNRNPH1", "heterogeneous nuclear ribonucleoprotein h", "heterogeneous nuclear ribonucleoprotein h1", "hnrph1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3187 ; - skos:exactMatch HGNC_symbol:HNRNPH1 ; + skos:exactMatch UMLS:C1415642, + HGNC:5041, + HGNC_symbol:HNRNPH1 ; biolink:category biolink:Gene . OMIM:601036 a owl:Class ; @@ -132175,13 +135760,14 @@ OMIM:601037 a owl:Class ; IAO:0000142 PMID:1351868, PMID:20308327, PMID:7499401 ; - oboInOwl:hasDbXref UMLS:C1415641 ; oboInOwl:hasExactSynonym "HNRNPF", "heterogeneous nuclear ribonucleoprotein f", "hnrpf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3185 ; - skos:exactMatch HGNC_symbol:HNRNPF ; + skos:exactMatch UMLS:C1415641, + HGNC:5039, + HGNC_symbol:HNRNPF ; biolink:category biolink:Gene . OMIM:601038 a owl:Class ; @@ -132192,35 +135778,37 @@ OMIM:601038 a owl:Class ; PMID:27329732, PMID:7593630, PMID:9787088 ; - oboInOwl:hasDbXref UMLS:C1414053 ; oboInOwl:hasExactSynonym "DIO3", "deiodinase, iodothyronine, iia 3", "iodothyronine deiodinase, placental iia", "thyroxine deiodinase, iia 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1735 ; - skos:exactMatch HGNC_symbol:DIO3 ; + skos:exactMatch UMLS:C1414053, + HGNC:2885, + HGNC_symbol:DIO3 ; biolink:category biolink:Gene . OMIM:601039 a owl:Class ; rdfs:label "ichthyosis-mental retardation syndrome with large keratohyalin granules 1n the skin" ; IAO:0000142 PMID:8669437 ; - oboInOwl:hasDbXref UMLS:C1832858 ; - oboInOwl:hasExactSynonym "ichthyosis-mental retardation syndrome with large keratohyalin granules 1n the skin" . + oboInOwl:hasExactSynonym "ichthyosis-mental retardation syndrome with large keratohyalin granules 1n the skin" ; + skos:exactMatch UMLS:C1832858 . OMIM:601041 a owl:Class ; rdfs:label "TLE2" ; IAO:0000142 PMID:17041588, PMID:8365415, PMID:8808280 ; - oboInOwl:hasDbXref UMLS:C1420753 ; oboInOwl:hasExactSynonym "TLE2", "enhancer of split groucho 2", "tle family member 2, transcriptional corepressor", "transducin-like enhancer of split 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7089 ; - skos:exactMatch HGNC_symbol:TLE2 ; + skos:exactMatch UMLS:C1420753, + HGNC:11838, + HGNC_symbol:TLE2 ; biolink:category biolink:Gene . OMIM:601042 a owl:Class ; @@ -132229,13 +135817,13 @@ OMIM:601042 a owl:Class ; PMID:1575453, PMID:21832227, PMID:8808284 ; - oboInOwl:hasDbXref UMLS:C1832855 ; oboInOwl:hasExactSynonym "DYT9", "choreoathetosis, kinesigenic, with episodic ataxia and spasticity", "choreoathetosis/spasticity, episodic", "cse choreoathetosis, paroxysmal, with episodic ataxia", "dystonia 9" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1832855 ; biolink:category biolink:Disease . OMIM:601043 a owl:Class ; @@ -132259,7 +135847,6 @@ OMIM:601045 a owl:Class ; PMID:9721216 ; RO:0002525 CHR:9606chr11q12.1 ; RO:0003303 OMIM:617681 ; - oboInOwl:hasDbXref UMLS:C1413800 ; oboInOwl:hasExactSynonym "CTNND1", "cadherin-associated src substrate", "catenin, delta", @@ -132267,7 +135854,9 @@ OMIM:601045 a owl:Class ; "p120(ctn)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1500 ; - skos:exactMatch HGNC_symbol:CTNND1 ; + skos:exactMatch UMLS:C1413800, + HGNC:2515, + HGNC_symbol:CTNND1 ; biolink:category biolink:Gene . OMIM:601046 a owl:Class ; @@ -132288,13 +135877,14 @@ OMIM:601046 a owl:Class ; PMID:8921407, PMID:9302297, PMID:9835614 ; - oboInOwl:hasDbXref UMLS:C1417201 ; oboInOwl:hasExactSynonym "MMP12", "macrophage metalloelastase", "matrix metalloproteinase 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4321 ; - skos:exactMatch HGNC_symbol:MMP12 ; + skos:exactMatch UMLS:C1417201, + HGNC:7158, + HGNC_symbol:MMP12 ; biolink:category biolink:Gene . OMIM:601047 a owl:Class ; @@ -132336,13 +135926,14 @@ OMIM:601047 a owl:Class ; PMID:9837809 ; RO:0002525 CHR:9606chr7q31.2 ; RO:0003303 OMIM:615343 ; - oboInOwl:hasDbXref UMLS:C1332669 ; oboInOwl:hasExactSynonym "CAV1", "caveolae protein, 22-kd", "caveolin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:857 ; - skos:exactMatch HGNC_symbol:CAV1 ; + skos:exactMatch UMLS:C1332669, + HGNC:1527, + HGNC_symbol:CAV1 ; biolink:category biolink:Gene . OMIM:601048 a owl:Class ; @@ -132352,13 +135943,14 @@ OMIM:601048 a owl:Class ; PMID:9707634, PMID:9801158, PMID:9837809 ; - oboInOwl:hasDbXref UMLS:C1332670 ; oboInOwl:hasExactSynonym "CAV2", "caveolae protein, 20-kd", "caveolin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:858 ; - skos:exactMatch HGNC_symbol:CAV2 ; + skos:exactMatch UMLS:C1332670, + HGNC:1528, + HGNC_symbol:CAV2 ; biolink:category biolink:Gene . OMIM:601049 a owl:Class ; @@ -132374,7 +135966,6 @@ OMIM:601051 a owl:Class ; PMID:10733593, PMID:7665620, PMID:8552591 ; - oboInOwl:hasDbXref UMLS:C1334533 ; oboInOwl:hasExactSynonym "MSLN", "antigen recognized by monoclonal antibody k1", "megakaryocyte-potentiating factor", @@ -132382,7 +135973,9 @@ OMIM:601051 a owl:Class ; "soluble mpf/mesothelin-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10232 ; - skos:exactMatch HGNC_symbol:MSLN ; + skos:exactMatch UMLS:C1334533, + HGNC:7371, + HGNC_symbol:MSLN ; biolink:category biolink:Gene . OMIM:601052 a owl:Class ; @@ -132405,13 +135998,14 @@ OMIM:601052 a owl:Class ; PMID:8552658, PMID:8606777, PMID:9299231 ; - oboInOwl:hasDbXref UMLS:C1418582 ; oboInOwl:hasExactSynonym "PIN1", "dodo, drosophila, homolog of", "peptidyl-prolyl cis/trans isomerase, nima-interacting, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5300 ; - skos:exactMatch HGNC_symbol:PIN1 ; + skos:exactMatch UMLS:C1418582, + HGNC:8988, + HGNC_symbol:PIN1 ; biolink:category biolink:Gene . OMIM:601053 a owl:Class ; @@ -132425,14 +136019,15 @@ OMIM:601053 a owl:Class ; PMID:20877282, PMID:22019888, PMID:8570614 ; - oboInOwl:hasDbXref UMLS:C1418664 ; oboInOwl:hasExactSynonym "PLXNB1", "plexin 5", "plexin b1", "transmembrane protein sep" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5364 ; - skos:exactMatch HGNC_symbol:PLXNB1 ; + skos:exactMatch UMLS:C1418664, + HGNC:9103, + HGNC_symbol:PLXNB1 ; biolink:category biolink:Gene . OMIM:601054 a owl:Class ; @@ -132443,14 +136038,15 @@ OMIM:601054 a owl:Class ; PMID:20877282, PMID:20881961, PMID:8570614 ; - oboInOwl:hasDbXref UMLS:C1418661 ; oboInOwl:hasExactSynonym "PLXNA2", "plexin 2", "plexin a2", "transmembrane protein oct" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5362 ; - skos:exactMatch HGNC_symbol:PLXNA2 ; + skos:exactMatch UMLS:C1418661, + HGNC:9100, + HGNC_symbol:PLXNA2 ; biolink:category biolink:Gene . OMIM:601055 a owl:Class ; @@ -132464,14 +136060,15 @@ OMIM:601055 a owl:Class ; PMID:28751609, PMID:30467832, PMID:8570614 ; - oboInOwl:hasDbXref UMLS:C1418660 ; oboInOwl:hasExactSynonym "PLXNA1", "plexin 1", "plexin a1", "transmembrane protein nov" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5361 ; - skos:exactMatch HGNC_symbol:PLXNA1 ; + skos:exactMatch UMLS:C1418660, + HGNC:9099, + HGNC_symbol:PLXNA1 ; biolink:category biolink:Gene . OMIM:601057 a owl:Class ; @@ -132480,13 +136077,14 @@ OMIM:601057 a owl:Class ; PMID:11606059, PMID:12024023, PMID:8560270 ; - oboInOwl:hasDbXref UMLS:C1418406 ; oboInOwl:hasExactSynonym "PDCD6", "apoptosis-linked gene 2", "programmed cell death 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10016 ; - skos:exactMatch HGNC_symbol:PDCD6 ; + skos:exactMatch UMLS:C1418406, + HGNC:8765, + HGNC_symbol:PDCD6 ; biolink:category biolink:Gene . OMIM:601058 a owl:Class ; @@ -132498,13 +136096,14 @@ OMIM:601058 a owl:Class ; PMID:9188772 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:619721 ; - oboInOwl:hasDbXref UMLS:C1415428 ; oboInOwl:hasExactSynonym "H3F3B", "h3 histone, family 3b", "h3.3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3021 ; - skos:exactMatch HGNC_symbol:H3-3B ; + skos:exactMatch UMLS:C1415428, + HGNC:4765, + HGNC_symbol:H3-3B ; biolink:category biolink:Gene . OMIM:601059 a owl:Class ; @@ -132519,7 +136118,6 @@ OMIM:601060 a owl:Class ; PMID:7961762, PMID:7982964, PMID:8586446 ; - oboInOwl:hasDbXref UMLS:C1414408 ; oboInOwl:hasExactSynonym "ENPP2", "autotaxin", "ectonucleotide pyrophosphatase/phosphodiesterase 2", @@ -132528,42 +136126,47 @@ OMIM:601060 a owl:Class ; "phosphodiesterase i/nucleotide pyrophosphatase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5168 ; - skos:exactMatch HGNC_symbol:ENPP2 ; + skos:exactMatch UMLS:C1414408, + HGNC:3357, + HGNC_symbol:ENPP2 ; biolink:category biolink:Gene . OMIM:601061 a owl:Class ; rdfs:label "SNRPD2" ; IAO:0000142 PMID:3260384, PMID:7527560 ; - oboInOwl:hasDbXref UMLS:C1420290 ; oboInOwl:hasExactSynonym "SNRPD2", "small nuclear ribonucleoprotein polypeptide d2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6633 ; - skos:exactMatch HGNC_symbol:SNRPD2 ; + skos:exactMatch UMLS:C1420290, + HGNC:11159, + HGNC_symbol:SNRPD2 ; biolink:category biolink:Gene . OMIM:601062 a owl:Class ; rdfs:label "SNRPD3" ; IAO:0000142 PMID:7527560 ; - oboInOwl:hasDbXref UMLS:C1420291 ; oboInOwl:hasExactSynonym "SNRPD3", "small nuclear ribonucleoprotein polypeptide d3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6634 ; - skos:exactMatch HGNC_symbol:SNRPD3 ; + skos:exactMatch UMLS:C1420291, + HGNC:11160, + HGNC_symbol:SNRPD3 ; biolink:category biolink:Gene . OMIM:601063 a owl:Class ; rdfs:label "SNRPD1" ; IAO:0000142 PMID:3260384, PMID:7527560 ; - oboInOwl:hasDbXref UMLS:C1420289 ; oboInOwl:hasExactSynonym "SNRPD1", "small nuclear ribonucleoprotein polypeptide d1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6632 ; - skos:exactMatch HGNC_symbol:SNRPD1 ; + skos:exactMatch UMLS:C1420289, + HGNC:11158, + HGNC_symbol:SNRPD1 ; biolink:category biolink:Gene . OMIM:601064 a owl:Class ; @@ -132575,7 +136178,6 @@ OMIM:601064 a owl:Class ; PMID:8346037, PMID:8595910, PMID:8898945 ; - oboInOwl:hasDbXref UMLS:C1412824 ; oboInOwl:hasExactSynonym "ZFP36L1", "b-cell early response gene, 36-kd", "butyrate response factor 1", @@ -132584,7 +136186,9 @@ OMIM:601064 a owl:Class ; "zinc finger protein 36-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677 ; - skos:exactMatch HGNC_symbol:ZFP36L1 ; + skos:exactMatch UMLS:C1412824, + HGNC:1107, + HGNC_symbol:ZFP36L1 ; biolink:category biolink:Gene . OMIM:601065 a owl:Class ; @@ -132606,17 +136210,18 @@ OMIM:601065 a owl:Class ; PMID:8595897 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:619691 ; - oboInOwl:hasDbXref UMLS:C1412054, - UMLS:C2750090, - UMLS:C2986382, - UMLS:C4225361 ; oboInOwl:hasExactSynonym "AARS1", "aars", "alanyl-trna synthetase 1", "alars" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:16 ; - skos:exactMatch HGNC_symbol:AARS1 ; + skos:exactMatch UMLS:C1412054, + UMLS:C2750090, + UMLS:C2986382, + UMLS:C4225361, + HGNC:20, + HGNC_symbol:AARS1 ; biolink:category biolink:Gene . OMIM:601066 a owl:Class ; @@ -132625,14 +136230,15 @@ OMIM:601066 a owl:Class ; PMID:8586451, PMID:9247084, PMID:9804807 ; - oboInOwl:hasDbXref UMLS:C1418206 ; oboInOwl:hasExactSynonym "OXA1L", "cytochrome c oxidase assembly 1-like", "oxa1-like gene", "oxidase, cytochrome c, assembly 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5018 ; - skos:exactMatch HGNC_symbol:OXA1L ; + skos:exactMatch UMLS:C1418206, + HGNC:8526, + HGNC_symbol:OXA1L ; biolink:category biolink:Gene . OMIM:601069 a owl:Class ; @@ -132640,13 +136246,14 @@ OMIM:601069 a owl:Class ; IAO:0000142 PMID:8587123, PMID:8903737, PMID:9121460 ; - oboInOwl:hasDbXref UMLS:C1421726 ; oboInOwl:hasExactSynonym "ZNF239", "zinc finger protein 239", "zinc finger protein mok2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8187 ; - skos:exactMatch HGNC_symbol:ZNF239 ; + skos:exactMatch UMLS:C1421726, + HGNC:13031, + HGNC_symbol:ZNF239 ; biolink:category biolink:Gene . OMIM:601070 a owl:Class ; @@ -132661,12 +136268,13 @@ OMIM:601070 a owl:Class ; PMID:21765213, PMID:7641685, PMID:8530383 ; - oboInOwl:hasDbXref UMLS:C1416387 ; oboInOwl:hasExactSynonym "IL15RA", "interleukin 15 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3601 ; - skos:exactMatch HGNC_symbol:IL15RA ; + skos:exactMatch UMLS:C1416387, + HGNC:5978, + HGNC_symbol:IL15RA ; biolink:category biolink:Gene . OMIM:601073 a owl:Class ; @@ -132688,7 +136296,6 @@ OMIM:601074 a owl:Class ; PMID:8789448, PMID:8948631, PMID:9371827 ; - oboInOwl:hasDbXref UMLS:C1413824 ; oboInOwl:hasExactSynonym "CELF1", "bruno-like 2", "cug triplet repeat, rna-binding protein 1", @@ -132697,15 +136304,17 @@ OMIM:601074 a owl:Class ; "nuclear polyadenylated rna-binding protein, 50-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10658 ; - skos:exactMatch HGNC_symbol:CELF1 ; + skos:exactMatch UMLS:C1413824, + HGNC:2549, + HGNC_symbol:CELF1 ; biolink:category biolink:Gene . OMIM:601075 a owl:Class ; rdfs:label "aplasia cutis congenita, high myopia, and cone-rod dysfunction" ; IAO:0000142 PMID:3395567, PMID:8741916 ; - oboInOwl:hasDbXref UMLS:C1832826 ; - oboInOwl:hasExactSynonym "aplasia cutis congenita, high myopia, and cone-rod dysfunction" . + oboInOwl:hasExactSynonym "aplasia cutis congenita, high myopia, and cone-rod dysfunction" ; + skos:exactMatch UMLS:C1832826 . OMIM:601077 a owl:Class ; rdfs:label "KRT31" ; @@ -132721,7 +136330,6 @@ OMIM:601077 a owl:Class ; PMID:9405442, PMID:9457912, PMID:9756910 ; - oboInOwl:hasDbXref UMLS:C1825747 ; oboInOwl:hasExactSynonym "KRT31", "k31", "ka25", @@ -132730,13 +136338,14 @@ OMIM:601077 a owl:Class ; "keratin, hard, iia i, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3881 ; - skos:exactMatch HGNC_symbol:KRT31 ; + skos:exactMatch UMLS:C1825747, + HGNC:6448, + HGNC_symbol:KRT31 ; biolink:category biolink:Gene . OMIM:601078 a owl:Class ; rdfs:label "KRT82" ; IAO:0000142 PMID:7528047 ; - oboInOwl:hasDbXref UMLS:C1825769 ; oboInOwl:hasExactSynonym "KRT82", "k82", "kb22", @@ -132745,7 +136354,9 @@ OMIM:601078 a owl:Class ; "keratin, hard, iia ii, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3888 ; - skos:exactMatch HGNC_symbol:KRT82 ; + skos:exactMatch UMLS:C1825769, + HGNC:6459, + HGNC_symbol:KRT82 ; biolink:category biolink:Gene . OMIM:601080 a owl:Class ; @@ -132755,7 +136366,6 @@ OMIM:601080 a owl:Class ; PMID:1946366, PMID:23246698, PMID:8586425 ; - oboInOwl:hasDbXref UMLS:C1428166 ; oboInOwl:hasExactSynonym "U2AF1L4", "u2 small nuclear RNA auxiliary factor 1-like 4", "u2 small nuclear ribonucleoprotein auxiliary factor, 26-kd", @@ -132763,7 +136373,9 @@ OMIM:601080 a owl:Class ; "u2af1-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199746 ; - skos:exactMatch HGNC_symbol:U2AF1L4 ; + skos:exactMatch UMLS:C1428166, + HGNC:23020, + HGNC_symbol:U2AF1L4 ; biolink:category biolink:Gene . OMIM:601081 a owl:Class ; @@ -132777,21 +136389,21 @@ OMIM:601081 a owl:Class ; PMID:8577752, PMID:9195160, PMID:9887385 ; - oboInOwl:hasDbXref UMLS:C1412089 ; oboInOwl:hasExactSynonym "ABCD2", "adrenoleukodystrophy-like 1", "adrenoleukodystrophy-related", "atp-binding cassette, subfamily 3, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:225 ; - skos:exactMatch HGNC_symbol:ABCD2 ; + skos:exactMatch UMLS:C1412089, + HGNC:66, + HGNC_symbol:ABCD2 ; biolink:category biolink:Gene . OMIM:601082 a owl:Class ; rdfs:label "UBE2H" ; IAO:0000142 PMID:10860668, PMID:8132613 ; - oboInOwl:hasDbXref UMLS:C1421282 ; oboInOwl:hasExactSynonym "UBE2H", "gid complex, subunit 3", "glucose-induced degradation-deficient protein 3, s. cerevisiae, homolog of", @@ -132800,7 +136412,9 @@ OMIM:601082 a owl:Class ; "ubiquitin-conjugating enzyme ubc8, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7328 ; - skos:exactMatch HGNC_symbol:UBE2H ; + skos:exactMatch UMLS:C1421282, + HGNC:12484, + HGNC_symbol:UBE2H ; biolink:category biolink:Gene . OMIM:601083 a owl:Class ; @@ -132809,8 +136423,8 @@ OMIM:601083 a owl:Class ; PMID:6606619, PMID:7489396, PMID:7489409 ; - oboInOwl:hasDbXref UMLS:C1832816 ; - oboInOwl:hasExactSynonym "cd4/cd8 t-cell ratio" . + oboInOwl:hasExactSynonym "cd4/cd8 t-cell ratio" ; + skos:exactMatch UMLS:C1832816 . OMIM:601084 a owl:Class ; IAO:0100001 OMIM:606634 ; @@ -132832,11 +136446,11 @@ OMIM:601088 a owl:Class ; PMID:6432966, PMID:8834052, PMID:8867660 ; - oboInOwl:hasDbXref UMLS:C1832812, - ORPHA:1272 ; oboInOwl:hasExactSynonym "AYGRP", "ayme-gripp syndrome", "cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation" ; + skos:exactMatch UMLS:C1832812, + ORPHA:1272 ; biolink:category biolink:Disease . OMIM:601089 a owl:Class ; @@ -132856,15 +136470,16 @@ OMIM:601089 a owl:Class ; PMID:9722567 ; RO:0002525 CHR:9606chr16q24.1 ; RO:0003303 OMIM:265380 ; - oboInOwl:hasDbXref UMLS:C0031190, - UMLS:C1414677 ; oboInOwl:hasExactSynonym "FOXF1", "forkhead box f1", "forkhead, drosophila, homolog-like 5", "forkhead-related activator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2294 ; - skos:exactMatch HGNC_symbol:FOXF1 ; + skos:exactMatch UMLS:C0031190, + UMLS:C1414677, + HGNC:3809, + HGNC_symbol:FOXF1 ; biolink:category biolink:Gene . OMIM:601090 a owl:Class ; @@ -132905,14 +136520,15 @@ OMIM:601090 a owl:Class ; PMID:9792859 ; RO:0002525 CHR:9606chr6p25.3 ; RO:0003303 OMIM:602482 ; - oboInOwl:hasDbXref UMLS:C1414668 ; oboInOwl:hasExactSynonym "FOXC1", "forkhead box c1", "forkhead, drosophila, homolog-like 7", "forkhead-related activator 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2296 ; - skos:exactMatch HGNC_symbol:FOXC1 ; + skos:exactMatch UMLS:C1414668, + HGNC:3800, + HGNC_symbol:FOXC1 ; biolink:category biolink:Gene . OMIM:601091 a owl:Class ; @@ -132920,14 +136536,15 @@ OMIM:601091 a owl:Class ; IAO:0000142 PMID:7957066, PMID:8702877, PMID:8825632 ; - oboInOwl:hasDbXref UMLS:C1414670 ; oboInOwl:hasExactSynonym "FOXD1", "forkhead box d1", "forkhead, drosophila, homolog-like 8", "forkhead-related activator 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2297 ; - skos:exactMatch HGNC_symbol:FOXD1 ; + skos:exactMatch UMLS:C1414670, + HGNC:3802, + HGNC_symbol:FOXD1 ; biolink:category biolink:Gene . OMIM:601092 a owl:Class ; @@ -132936,7 +136553,6 @@ OMIM:601092 a owl:Class ; PMID:12421752, PMID:7957066, PMID:8825632 ; - oboInOwl:hasDbXref UMLS:C1414673 ; oboInOwl:hasExactSynonym "FOXD4", "fkh-like 9", "forkhead box d4", @@ -132944,7 +136560,9 @@ OMIM:601092 a owl:Class ; "forkhead-related activator 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2298 ; - skos:exactMatch HGNC_symbol:FOXD4 ; + skos:exactMatch UMLS:C1414673, + HGNC:3805, + HGNC_symbol:FOXD4 ; biolink:category biolink:Gene . OMIM:601093 a owl:Class ; @@ -132960,7 +136578,6 @@ OMIM:601093 a owl:Class ; PMID:9843211 ; RO:0002525 CHR:9606chr5q35.1 ; RO:0003303 OMIM:600791 ; - oboInOwl:hasDbXref UMLS:C1414682 ; oboInOwl:hasExactSynonym "FOXI1", "fkh10", "forkhead box i1", @@ -132968,7 +136585,9 @@ OMIM:601093 a owl:Class ; "forkhead-related activator 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2299 ; - skos:exactMatch HGNC_symbol:FOXI1 ; + skos:exactMatch UMLS:C1414682, + HGNC:3815, + HGNC_symbol:FOXI1 ; biolink:category biolink:Gene . OMIM:601094 a owl:Class ; @@ -132987,29 +136606,30 @@ OMIM:601094 a owl:Class ; PMID:8825632 ; RO:0002525 CHR:9606chr1p33 ; RO:0003303 OMIM:617349 ; - oboInOwl:hasDbXref UMLS:C1414676 ; oboInOwl:hasExactSynonym "FOXE3", "forkhead box e3", "forkhead, drosophila, homolog-like 12", "forkhead-related activator 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2301 ; - skos:exactMatch HGNC_symbol:FOXE3 ; + skos:exactMatch UMLS:C1414676, + HGNC:3808, + HGNC_symbol:FOXE3 ; biolink:category biolink:Gene . OMIM:601095 a owl:Class ; rdfs:label "harrod syndrome" ; IAO:0000142 PMID:8669446 ; - oboInOwl:hasDbXref UMLS:C0795970 ; - oboInOwl:hasExactSynonym "harrod syndrome" . + oboInOwl:hasExactSynonym "harrod syndrome" ; + skos:exactMatch UMLS:C0795970 . OMIM:601096 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, micromelic" ; IAO:0000142 PMID:8669445 ; - oboInOwl:hasDbXref UMLS:C1832800 ; oboInOwl:hasExactSynonym "dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects", "semd, micromelic", - "spondyloepimetaphyseal dysplasia, micromelic" . + "spondyloepimetaphyseal dysplasia, micromelic" ; + skos:exactMatch UMLS:C1832800 . OMIM:601097 a owl:Class ; rdfs:label "PMP22" ; @@ -133111,7 +136731,12 @@ OMIM:601097 a owl:Class ; PMID:9894872 ; RO:0002525 CHR:9606chr17p12 ; RO:0003303 OMIM:180800 ; - oboInOwl:hasDbXref UMLS:C0205713, + oboInOwl:hasExactSynonym "PMP22", + "growth arrest-specific 3", + "peripheral myelin protein 22" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:5376 ; + skos:exactMatch UMLS:C0205713, UMLS:C0270911, UMLS:C0393814, UMLS:C1418677, @@ -133120,13 +136745,9 @@ OMIM:601097 a owl:Class ; UMLS:C3495591, UMLS:C4016264, UMLS:C4016716, - UMLS:C4016717 ; - oboInOwl:hasExactSynonym "PMP22", - "growth arrest-specific 3", - "peripheral myelin protein 22" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:5376 ; - skos:exactMatch HGNC_symbol:PMP22 ; + UMLS:C4016717, + HGNC:9118, + HGNC_symbol:PMP22 ; biolink:category biolink:Gene . OMIM:601099 a owl:Class ; @@ -133138,13 +136759,14 @@ OMIM:601099 a owl:Class ; PMID:8542290, PMID:8825655, PMID:9660183 ; - oboInOwl:hasDbXref UMLS:C1420083 ; oboInOwl:hasExactSynonym "SLA", "slap", "src-like adaptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6503 ; - skos:exactMatch HGNC_symbol:SLA ; + skos:exactMatch UMLS:C1420083, + HGNC:10902, + HGNC_symbol:SLA ; biolink:category biolink:Gene . OMIM:601100 a owl:Class ; @@ -133152,13 +136774,14 @@ OMIM:601100 a owl:Class ; IAO:0000142 PMID:8131751, PMID:8825657, PMID:9570963 ; - oboInOwl:hasDbXref UMLS:C1420458 ; oboInOwl:hasExactSynonym "HSPA13", "heat shock 70-kd protein 13", "stress 70 protein chaperone, microsome-associated, 60-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6782 ; - skos:exactMatch HGNC_symbol:HSPA13 ; + skos:exactMatch UMLS:C1420458, + HGNC:11375, + HGNC_symbol:HSPA13 ; biolink:category biolink:Gene . OMIM:601102 a owl:Class ; @@ -133167,13 +136790,14 @@ OMIM:601102 a owl:Class ; PMID:3046931, PMID:8439732, PMID:8521730 ; - oboInOwl:hasDbXref UMLS:C1414349 ; oboInOwl:hasExactSynonym "EIF4A2", "ddx2b", "eukaryotic translation initiation factor 4a, isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1974 ; - skos:exactMatch HGNC_symbol:EIF4A2 ; + skos:exactMatch UMLS:C1414349, + HGNC:3284, + HGNC_symbol:EIF4A2 ; biolink:category biolink:Gene . OMIM:601103 a owl:Class ; @@ -133187,13 +136811,14 @@ OMIM:601103 a owl:Class ; PMID:9792630 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:616166 ; - oboInOwl:hasDbXref UMLS:C1428886 ; oboInOwl:hasExactSynonym "MFAP5", "microfibril-associated glycoprotein 2", "microfibrillar-associated protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8076 ; - skos:exactMatch HGNC_symbol:MFAP5 ; + skos:exactMatch UMLS:C1428886, + HGNC:29673, + HGNC_symbol:MFAP5 ; biolink:category biolink:Gene . OMIM:601104 a owl:Class ; @@ -133228,11 +136853,11 @@ OMIM:601104 a owl:Class ; PMID:9708963, PMID:9781517, PMID:9932968 ; - oboInOwl:hasDbXref UMLS:C4551863 ; oboInOwl:hasExactSynonym "PSNP1", "psp", "steele-richardson-olszewski syndrome", "supranuclear palsy, progressive, 1" ; + skos:exactMatch UMLS:C4551863 ; biolink:category biolink:Disease . OMIM:601105 a owl:Class ; @@ -133260,12 +136885,13 @@ OMIM:601105 a owl:Class ; PMID:9811821 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:265800 ; - oboInOwl:hasDbXref UMLS:C1413815 ; oboInOwl:hasExactSynonym "CTSK", "cathepsin k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1513 ; - skos:exactMatch HGNC_symbol:CTSK ; + skos:exactMatch UMLS:C1413815, + HGNC:2536, + HGNC_symbol:CTSK ; biolink:category biolink:Gene . OMIM:601106 a owl:Class ; @@ -133290,14 +136916,15 @@ OMIM:601107 a owl:Class ; PMID:9878557 ; RO:0002525 CHR:9606chr10q24.2 ; RO:0003303 OMIM:237500 ; - oboInOwl:hasDbXref UMLS:C1412077 ; oboInOwl:hasExactSynonym "ABCC2", "atp-binding cassette, subfamily c, member 2", "multidrug resistance-associated protein 2", "multispecific organic anion transporter, canalicular" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1244 ; - skos:exactMatch HGNC_symbol:ABCC2 ; + skos:exactMatch UMLS:C1412077, + HGNC:53, + HGNC_symbol:ABCC2 ; biolink:category biolink:Gene . OMIM:601108 a owl:Class ; @@ -133309,13 +136936,14 @@ OMIM:601109 a owl:Class ; IAO:0000142 PMID:2480527, PMID:7753378, PMID:8522988 ; - oboInOwl:hasDbXref UMLS:C1415815 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 6", "HTR6", "serotonin 5-ht-6 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3362 ; - skos:exactMatch HGNC_symbol:HTR6 ; + skos:exactMatch UMLS:C1415815, + HGNC:5301, + HGNC_symbol:HTR6 ; biolink:category biolink:Gene . OMIM:601111 a owl:Class ; @@ -133327,7 +136955,6 @@ OMIM:601113 a owl:Class ; IAO:0000142 PMID:10524232, PMID:23980576, PMID:8335910 ; - oboInOwl:hasDbXref UMLS:C1415760 ; oboInOwl:hasExactSynonym "HSPA4", "apg2", "heat-shock 70-kd protein 4", @@ -133335,19 +136962,22 @@ OMIM:601113 a owl:Class ; "hsp70" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3308 ; - skos:exactMatch HGNC_symbol:HSPA4 ; + skos:exactMatch UMLS:C1415760, + HGNC:5237, + HGNC_symbol:HSPA4 ; biolink:category biolink:Gene . OMIM:601114 a owl:Class ; rdfs:label "MPP3" ; IAO:0000142 PMID:8824795 ; - oboInOwl:hasDbXref UMLS:C1334527 ; oboInOwl:hasExactSynonym "MPP3", "discs large, drosophila, homolog of, 3, formerly", "membrane protein, palmitoylated 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4356 ; - skos:exactMatch HGNC_symbol:MPP3 ; + skos:exactMatch UMLS:C1334527, + HGNC:7221, + HGNC_symbol:MPP3 ; biolink:category biolink:Gene . OMIM:601115 a owl:Class ; @@ -133359,13 +136989,14 @@ OMIM:601115 a owl:Class ; PMID:23307741, PMID:8188265, PMID:8824806 ; - oboInOwl:hasDbXref UMLS:C1415307 ; oboInOwl:hasExactSynonym "GRM3", "glutamate receptor, metabotropic, 3", "mglur3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2913 ; - skos:exactMatch HGNC_symbol:GRM3 ; + skos:exactMatch UMLS:C1415307, + HGNC:4595, + HGNC_symbol:GRM3 ; biolink:category biolink:Gene . OMIM:601116 a owl:Class ; @@ -133374,13 +137005,14 @@ OMIM:601116 a owl:Class ; PMID:8824806, PMID:9299241, PMID:9473604 ; - oboInOwl:hasDbXref UMLS:C1415310 ; oboInOwl:hasExactSynonym "GRM8", "glutamate receptor, metabotropic, 8", "mglur8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2918 ; - skos:exactMatch HGNC_symbol:GRM8 ; + skos:exactMatch UMLS:C1415310, + HGNC:4600, + HGNC_symbol:GRM8 ; biolink:category biolink:Gene . OMIM:601117 a owl:Class ; @@ -133391,13 +137023,14 @@ OMIM:601117 a owl:Class ; PMID:8286339, PMID:8824811, PMID:9790774 ; - oboInOwl:hasDbXref UMLS:C1420726 ; oboInOwl:hasExactSynonym "THOP1", "thimet oligopeptidase 1", "top" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7064 ; - skos:exactMatch HGNC_symbol:THOP1 ; + skos:exactMatch UMLS:C1420726, + HGNC:11793, + HGNC_symbol:THOP1 ; biolink:category biolink:Gene . OMIM:601118 a owl:Class ; @@ -133409,14 +137042,15 @@ OMIM:601118 a owl:Class ; PMID:20134461, PMID:7522304, PMID:8824814 ; - oboInOwl:hasDbXref UMLS:C1332660 ; oboInOwl:hasExactSynonym "CAMLG", "calcium-modulating cyclophilin ligand", "calcium-modulating ligand", "caml" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:819 ; - skos:exactMatch HGNC_symbol:CAMLG ; + skos:exactMatch UMLS:C1332660, + HGNC:1471, + HGNC_symbol:CAMLG ; biolink:category biolink:Gene . OMIM:601119 a owl:Class ; @@ -133433,13 +137067,14 @@ OMIM:601119 a owl:Class ; PMID:8543061 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:614129 ; - oboInOwl:hasDbXref UMLS:C1413504 ; oboInOwl:hasExactSynonym "CLPP", "caseinolytic mitochondrial matrix peptidase proteolytic subunit", "clpp, e. coli, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8192 ; - skos:exactMatch HGNC_symbol:CLPP ; + skos:exactMatch UMLS:C1413504, + HGNC:2084, + HGNC_symbol:CLPP ; biolink:category biolink:Gene . OMIM:601120 a owl:Class ; @@ -133450,7 +137085,6 @@ OMIM:601120 a owl:Class ; PMID:8093046, PMID:8786117, PMID:9615235 ; - oboInOwl:hasDbXref UMLS:C1332729 ; oboInOwl:hasExactSynonym "CDH5", "cadherin 5", "cadherin, vascular endothelial", @@ -133458,7 +137092,9 @@ OMIM:601120 a owl:Class ; "ve-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1003 ; - skos:exactMatch HGNC_symbol:CDH5 ; + skos:exactMatch UMLS:C1332729, + HGNC:1764, + HGNC_symbol:CDH5 ; biolink:category biolink:Gene . OMIM:601121 a owl:Class ; @@ -133477,13 +137113,14 @@ OMIM:601121 a owl:Class ; PMID:25517614, PMID:8786112, PMID:9712843 ; - oboInOwl:hasDbXref UMLS:C1335207 ; oboInOwl:hasExactSynonym "PGF", "placental growth factor", "plgf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5228 ; - skos:exactMatch HGNC_symbol:PGF ; + skos:exactMatch UMLS:C1335207, + HGNC:8893, + HGNC_symbol:PGF ; biolink:category biolink:Gene . OMIM:601122 a owl:Class ; @@ -133495,13 +137132,14 @@ OMIM:601122 a owl:Class ; PMID:23519210, PMID:23519215, PMID:8786115 ; - oboInOwl:hasDbXref UMLS:C1415810 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 2b", "HTR2B", "serotonin 5-ht-2b receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3357 ; - skos:exactMatch HGNC_symbol:HTR2B ; + skos:exactMatch UMLS:C1415810, + HGNC:5294, + HGNC_symbol:HTR2B ; biolink:category biolink:Gene . OMIM:601123 a owl:Class ; @@ -133512,7 +137150,6 @@ OMIM:601123 a owl:Class ; PMID:8195250, PMID:8786103, PMID:9677390 ; - oboInOwl:hasDbXref UMLS:C1539873 ; oboInOwl:hasExactSynonym "ST8SIA1", "alpha-2,8-sialyltransferase 1", "alpha-n-acetylneuraminate: alpha-2,8-sialyltransferase", @@ -133522,7 +137159,9 @@ OMIM:601123 a owl:Class ; "st8sia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6489 ; - skos:exactMatch HGNC_symbol:ST8SIA1 ; + skos:exactMatch UMLS:C1539873, + HGNC:10869, + HGNC_symbol:ST8SIA1 ; biolink:category biolink:Gene . OMIM:601125 a owl:Class ; @@ -133540,12 +137179,13 @@ OMIM:601125 a owl:Class ; PMID:8444897, PMID:8834247, PMID:9278438 ; - oboInOwl:hasDbXref UMLS:C1333898 ; oboInOwl:hasExactSynonym "HK2", "hexokinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3099 ; - skos:exactMatch HGNC_symbol:HK2 ; + skos:exactMatch UMLS:C1333898, + HGNC:4923, + HGNC_symbol:HK2 ; biolink:category biolink:Gene . OMIM:601126 a owl:Class ; @@ -133553,20 +137193,21 @@ OMIM:601126 a owl:Class ; IAO:0000142 PMID:1409643, PMID:25359980, PMID:7959769 ; - oboInOwl:hasDbXref UMLS:C1420778 ; oboInOwl:hasExactSynonym "TMF1", "tata element modulatory factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7110 ; - skos:exactMatch HGNC_symbol:TMF1 ; + skos:exactMatch UMLS:C1420778, + HGNC:11870, + HGNC_symbol:TMF1 ; biolink:category biolink:Gene . OMIM:601127 a owl:Class ; rdfs:label "fallot complex with severe mental and growth retardation" ; IAO:0000142 PMID:15578610, PMID:8010348 ; - oboInOwl:hasDbXref UMLS:C1832735 ; - oboInOwl:hasExactSynonym "fallot complex with severe mental and growth retardation" . + oboInOwl:hasExactSynonym "fallot complex with severe mental and growth retardation" ; + skos:exactMatch UMLS:C1832735 . OMIM:601128 a owl:Class ; rdfs:label "H3F3A" ; @@ -133592,14 +137233,15 @@ OMIM:601128 a owl:Class ; PMID:9441765 ; RO:0002525 CHR:9606chr1q42.12 ; RO:0003303 OMIM:619720 ; - oboInOwl:hasDbXref UMLS:C1415427 ; oboInOwl:hasExactSynonym "H3F3A", "h3 histone, family 3a", "h3.3a", "h3f3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3020 ; - skos:exactMatch HGNC_symbol:H3-3A ; + skos:exactMatch UMLS:C1415427, + HGNC:4764, + HGNC_symbol:H3-3A ; biolink:category biolink:Gene . OMIM:601129 a owl:Class ; @@ -133613,15 +137255,16 @@ OMIM:601129 a owl:Class ; PMID:8530044 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:618018 ; - oboInOwl:hasDbXref UMLS:C1413873, - UMLS:C4693948, - UMLS:C4693986, - UMLS:C4693987 ; oboInOwl:hasExactSynonym "CYP2C8", "cytochrome p450, subfamily iic, polypeptide 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1558 ; - skos:exactMatch HGNC_symbol:CYP2C8 ; + skos:exactMatch UMLS:C1413873, + UMLS:C4693948, + UMLS:C4693986, + UMLS:C4693987, + HGNC:2622, + HGNC_symbol:CYP2C8 ; biolink:category biolink:Gene . OMIM:601130 a owl:Class ; @@ -133652,24 +137295,26 @@ OMIM:601130 a owl:Class ; PMID:9352571 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:122700 ; - oboInOwl:hasDbXref UMLS:C1332829 ; oboInOwl:hasExactSynonym "CYP2C9", "cytochrome p450, subfamily iic, polypeptide 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1559 ; - skos:exactMatch HGNC_symbol:CYP2C9 ; + skos:exactMatch UMLS:C1332829, + HGNC:2623, + HGNC_symbol:CYP2C9 ; biolink:category biolink:Gene . OMIM:601131 a owl:Class ; rdfs:label "CYP2C18" ; IAO:0000142 PMID:10768437, PMID:8530044 ; - oboInOwl:hasDbXref UMLS:C1378702 ; oboInOwl:hasExactSynonym "CYP2C18", "cytochrome p450, subfamily iic, polypeptide 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1562 ; - skos:exactMatch HGNC_symbol:CYP2C18 ; + skos:exactMatch UMLS:C1378702, + HGNC:2620, + HGNC_symbol:CYP2C18 ; biolink:category biolink:Gene . OMIM:601132 a owl:Class ; @@ -133682,13 +137327,14 @@ OMIM:601132 a owl:Class ; PMID:21297617, PMID:8521506, PMID:8521512 ; - oboInOwl:hasDbXref UMLS:C1825781 ; oboInOwl:hasExactSynonym "KSR1", "kinase suppressor of ras 1", "ksr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8844 ; - skos:exactMatch HGNC_symbol:KSR1 ; + skos:exactMatch UMLS:C1825781, + HGNC:6465, + HGNC_symbol:KSR1 ; biolink:category biolink:Gene . OMIM:601133 a owl:Class ; @@ -133697,7 +137343,6 @@ OMIM:601133 a owl:Class ; PMID:15128046, PMID:2406242, PMID:8561797 ; - oboInOwl:hasDbXref UMLS:C1413879 ; oboInOwl:hasExactSynonym "CYP2G1P", "cyp2gp1", "cytochrome p450, family 2, subfamily g, member 1, pseudogene", @@ -133705,7 +137350,9 @@ OMIM:601133 a owl:Class ; "cytochrome p450, subfamily iig, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22952 ; - skos:exactMatch HGNC_symbol:CYP2G1P ; + skos:exactMatch UMLS:C1413879, + HGNC:2633, + HGNC_symbol:CYP2G1P ; biolink:category biolink:Gene . OMIM:601135 a owl:Class ; @@ -133717,13 +137364,14 @@ OMIM:601135 a owl:Class ; PMID:8097731, PMID:8838315, PMID:9417909 ; - oboInOwl:hasDbXref UMLS:C1415007 ; oboInOwl:hasExactSynonym "GBX2", "gastrulation and brain-specific 2", "gastrulation brain homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2637 ; - skos:exactMatch HGNC_symbol:GBX2 ; + skos:exactMatch UMLS:C1415007, + HGNC:4186, + HGNC_symbol:GBX2 ; biolink:category biolink:Gene . OMIM:601137 a owl:Class ; @@ -133734,27 +137382,29 @@ OMIM:601139 a owl:Class ; rdfs:label "ZNF175" ; IAO:0000142 PMID:14688346, PMID:8838321 ; - oboInOwl:hasDbXref UMLS:C1421663 ; oboInOwl:hasExactSynonym "ZNF175", "zinc finger protein 175", "zinc finger protein otk18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7728 ; - skos:exactMatch HGNC_symbol:ZNF175 ; + skos:exactMatch UMLS:C1421663, + HGNC:12964, + HGNC_symbol:ZNF175 ; biolink:category biolink:Gene . OMIM:601140 a owl:Class ; rdfs:label "PPP1R14B" ; IAO:0000142 PMID:8670283, PMID:8838322 ; - oboInOwl:hasDbXref UMLS:C1418632 ; oboInOwl:hasExactSynonym "PPP1R14B", "phospholipase c, beta-3, neighboring gene of", "png", "protein phosphatase 1, regulatory subunit 14b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26472 ; - skos:exactMatch HGNC_symbol:PPP1R14B ; + skos:exactMatch UMLS:C1418632, + HGNC:9057, + HGNC_symbol:PPP1R14B ; biolink:category biolink:Gene . OMIM:601141 a owl:Class ; @@ -133767,14 +137417,15 @@ OMIM:601141 a owl:Class ; PMID:8938711, PMID:9501317, PMID:9857044 ; - oboInOwl:hasDbXref UMLS:C1416551 ; oboInOwl:hasExactSynonym "KCNAB1", "kcna1b", "kv-beta-1", "potassium channel, voltage-gated, shaker-related subfamily, beta member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7881 ; - skos:exactMatch HGNC_symbol:KCNAB1 ; + skos:exactMatch UMLS:C1416551, + HGNC:6228, + HGNC_symbol:KCNAB1 ; biolink:category biolink:Gene . OMIM:601142 a owl:Class ; @@ -133785,14 +137436,15 @@ OMIM:601142 a owl:Class ; PMID:7649300, PMID:8838324, PMID:9857044 ; - oboInOwl:hasDbXref UMLS:C1416552 ; oboInOwl:hasExactSynonym "KCNAB2", "kcna2b", "kv-beta-2", "potassium channel, voltage-gated, shaker-related subfamily, beta member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8514 ; - skos:exactMatch HGNC_symbol:KCNAB2 ; + skos:exactMatch UMLS:C1416552, + HGNC:6229, + HGNC_symbol:KCNAB2 ; biolink:category biolink:Gene . OMIM:601143 a owl:Class ; @@ -133822,13 +137474,14 @@ OMIM:601143 a owl:Class ; PMID:9799602 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:105400 ; - oboInOwl:hasDbXref UMLS:C1413935 ; oboInOwl:hasExactSynonym "DCTN1", "dynactin 1", "p150(glued), drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1639 ; - skos:exactMatch HGNC_symbol:DCTN1 ; + skos:exactMatch UMLS:C1413935, + HGNC:2711, + HGNC_symbol:DCTN1 ; biolink:category biolink:Gene . OMIM:601144 a owl:Class ; @@ -133864,15 +137517,15 @@ OMIM:601144 a owl:Class ; PMID:9521325, PMID:9935001, PMID:9950665 ; - oboInOwl:hasDbXref UMLS:C1142166, - UMLS:C2748542, - UMLS:C4551804 ; oboInOwl:hasExactSynonym "BRGDA1", "brugada syndrome 1", "cardiac conduction defect, nonspecific", "right bundle branch block, st segment elevation, and sudden death syndrome", "sudden unexplained nocturnal death syndrome" ; rdfs:subClassOf OMIMPS:601144 ; + skos:exactMatch UMLS:C1142166, + UMLS:C2748542, + UMLS:C4551804 ; biolink:category biolink:Disease . OMIM:601146 a owl:Class ; @@ -133914,16 +137567,6 @@ OMIM:601146 a owl:Class ; PMID:9885252 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:612400 ; - oboInOwl:hasDbXref UMLS:C0265260, - UMLS:C1333666, - UMLS:C1832702, - UMLS:C1832708, - UMLS:C1856738, - UMLS:C1862103, - UMLS:C2930970, - UMLS:C3554446, - UMLS:C3809104, - UMLS:C4759728 ; oboInOwl:hasExactSynonym "GDF5", "bone morphogenetic protein 14", "cartilage-derived morphogenetic protein 1", @@ -133932,7 +137575,18 @@ OMIM:601146 a owl:Class ; "lps-associated protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8200 ; - skos:exactMatch HGNC_symbol:GDF5 ; + skos:exactMatch UMLS:C0265260, + UMLS:C1333666, + UMLS:C1832702, + UMLS:C1832708, + UMLS:C1856738, + UMLS:C1862103, + UMLS:C2930970, + UMLS:C3554446, + UMLS:C3809104, + UMLS:C4759728, + HGNC:4220, + HGNC_symbol:GDF5 ; biolink:category biolink:Gene . OMIM:601147 a owl:Class ; @@ -133954,13 +137608,14 @@ OMIM:601147 a owl:Class ; PMID:9218508 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:617898 ; - oboInOwl:hasDbXref UMLS:C1415036 ; oboInOwl:hasExactSynonym "GDF6", "cartilage-derived morphogenetic protein 2", "growth/differentiation factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:392255 ; - skos:exactMatch HGNC_symbol:GDF6 ; + skos:exactMatch UMLS:C1415036, + HGNC:4221, + HGNC_symbol:GDF6 ; biolink:category biolink:Gene . OMIM:601148 a owl:Class ; @@ -133968,13 +137623,14 @@ OMIM:601148 a owl:Class ; IAO:0000142 PMID:11940662, PMID:16325371, PMID:8833144 ; - oboInOwl:hasDbXref UMLS:C1822783 ; oboInOwl:hasExactSynonym "SMCP", "mitochondrial capsule selenoprotein", "sperm mitochondria-associated cysteine-rich protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4184 ; - skos:exactMatch HGNC_symbol:SMCP ; + skos:exactMatch UMLS:C1822783, + HGNC:6962, + HGNC_symbol:SMCP ; biolink:category biolink:Gene . OMIM:601149 a owl:Class ; @@ -133989,15 +137645,16 @@ OMIM:601149 a owl:Class ; PMID:965003 ; RO:0002525 CHR:9606chr15q25.1 ; RO:0003303 OMIM:619007 ; - oboInOwl:hasDbXref UMLS:C1415878, - UMLS:C5436588 ; oboInOwl:hasExactSynonym "IDH3A", "icdm", "isocitrate dehydrogenase 3, alpha subunit", "isocitrate dehydrogenase, nad(+)-specific, mitochondrial, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3419 ; - skos:exactMatch HGNC_symbol:IDH3A ; + skos:exactMatch UMLS:C1415878, + UMLS:C5436588, + HGNC:5384, + HGNC_symbol:IDH3A ; biolink:category biolink:Gene . OMIM:601154 a owl:Class ; @@ -134013,12 +137670,12 @@ OMIM:601154 a owl:Class ; PMID:22999724, PMID:3953067, PMID:8567977 ; - oboInOwl:hasDbXref UMLS:C1832680 ; oboInOwl:hasExactSynonym "CMD1E", "cardiomyopathy, dilated, 1e", "cardiomyopathy, dilated, with conduction defect 2", "cardiomyopathy, dilated, with conduction disorder and arrhythmia" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1832680 ; biolink:category biolink:Disease . OMIM:601155 a owl:Class ; @@ -134030,7 +137687,6 @@ OMIM:601155 a owl:Class ; PMID:9039502, PMID:9461441, PMID:9820596 ; - oboInOwl:hasDbXref UMLS:C1825516 ; oboInOwl:hasExactSynonym "HMHA1", "histocompatibility (minor) ha-1", "hla-ha1", @@ -134038,7 +137694,9 @@ OMIM:601155 a owl:Class ; "minor histocompatibility antigen ha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23526 ; - skos:exactMatch HGNC_symbol:ARHGAP45 ; + skos:exactMatch UMLS:C1825516, + HGNC:17102, + HGNC_symbol:ARHGAP45 ; biolink:category biolink:Gene . OMIM:601156 a owl:Class ; @@ -134056,7 +137714,6 @@ OMIM:601156 a owl:Class ; PMID:9299399 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:609423 ; - oboInOwl:hasDbXref UMLS:C1332676 ; oboInOwl:hasExactSynonym "CCL11", "chemokine, cc motif, ligand 11", "eotaxin", @@ -134064,21 +137721,24 @@ OMIM:601156 a owl:Class ; "small inducible cytokine subfamily a, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6356 ; - skos:exactMatch HGNC_symbol:CCL11 ; + skos:exactMatch UMLS:C1332676, + HGNC:10610, + HGNC_symbol:CCL11 ; biolink:category biolink:Gene . OMIM:601157 a owl:Class ; rdfs:label "DEFA4" ; IAO:0000142 PMID:2843187, PMID:8469233 ; - oboInOwl:hasDbXref UMLS:C1413975 ; oboInOwl:hasExactSynonym "DEFA4", "corticostatin hp4 precursor", "defensin 4, corticostatin", "defensin, alpha, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1669 ; - skos:exactMatch HGNC_symbol:DEFA4 ; + skos:exactMatch UMLS:C1413975, + HGNC:2763, + HGNC_symbol:DEFA4 ; biolink:category biolink:Gene . OMIM:601158 a owl:Class ; @@ -134109,7 +137769,6 @@ OMIM:601158 a owl:Class ; PMID:8654373, PMID:8848099, PMID:9851932 ; - oboInOwl:hasDbXref UMLS:C1367731 ; oboInOwl:hasExactSynonym "MAPK8", "c-jun kinase 1", "mitogen-activated protein kinase 8", @@ -134117,7 +137776,9 @@ OMIM:601158 a owl:Class ; "stress-activated protein kinase jnk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5599 ; - skos:exactMatch HGNC_symbol:MAPK8 ; + skos:exactMatch UMLS:C1367731, + HGNC:6881, + HGNC_symbol:MAPK8 ; biolink:category biolink:Gene . OMIM:601159 a owl:Class ; @@ -134129,7 +137790,6 @@ OMIM:601159 a owl:Class ; PMID:8530091, PMID:9143512, PMID:9329966 ; - oboInOwl:hasDbXref UMLS:C1332699 ; oboInOwl:hasExactSynonym "CCR1", "chemokine, cc motif, receptor 1", "ckr1", @@ -134138,20 +137798,22 @@ OMIM:601159 a owl:Class ; "macrophage inflammatory protein 1-alpha/rantes receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1230 ; - skos:exactMatch HGNC_symbol:CCR1 ; + skos:exactMatch UMLS:C1332699, + HGNC:1602, + HGNC_symbol:CCR1 ; biolink:category biolink:Gene . OMIM:601160 a owl:Class ; rdfs:label "lissencephaly iia 3 and bone dysplasia" ; IAO:0000142 PMID:8779318 ; - oboInOwl:hasDbXref UMLS:C1832678 ; - oboInOwl:hasExactSynonym "lissencephaly iia 3 and bone dysplasia" . + oboInOwl:hasExactSynonym "lissencephaly iia 3 and bone dysplasia" ; + skos:exactMatch UMLS:C1832678 . OMIM:601161 a owl:Class ; rdfs:label "trisomy 18-like syndrome" ; IAO:0000142 PMID:8779322 ; - oboInOwl:hasDbXref UMLS:C1832677 ; - oboInOwl:hasExactSynonym "trisomy 18-like syndrome" . + oboInOwl:hasExactSynonym "trisomy 18-like syndrome" ; + skos:exactMatch UMLS:C1832677 . OMIM:601162 a owl:Class ; rdfs:label "spastic paraplegia 9a, autosomal dominant" ; @@ -134159,12 +137821,12 @@ OMIM:601162 a owl:Class ; PMID:26297558, PMID:8779323, PMID:9973297 ; - oboInOwl:hasDbXref UMLS:C1832669 ; oboInOwl:hasExactSynonym "SPG9A", "cataracts with motor neuronopathy, short stature, and skeletal abnormalities", "spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux", "spastic paraplegia 9a, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1832669 ; biolink:category biolink:Disease . OMIM:601163 a owl:Class ; @@ -134172,9 +137834,9 @@ OMIM:601163 a owl:Class ; IAO:0000142 PMID:19318925, PMID:23448910, PMID:8779324 ; - oboInOwl:hasDbXref UMLS:C1832668 ; oboInOwl:hasExactSynonym "diaphragmatic defects, limb deficiencies, and ossification defects of skull", "froster syndrome" ; + skos:exactMatch UMLS:C1832668 ; biolink:category biolink:Disease . OMIM:601164 a owl:Class ; @@ -134185,19 +137847,20 @@ OMIM:601165 a owl:Class ; rdfs:label "cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease" ; IAO:0000142 PMID:8779326, PMID:9415467 ; - oboInOwl:hasDbXref UMLS:C2931750 ; - oboInOwl:hasExactSynonym "cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease" . + oboInOwl:hasExactSynonym "cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease" ; + skos:exactMatch UMLS:C2931750 . OMIM:601166 a owl:Class ; rdfs:label "GPR15" ; IAO:0000142 PMID:23661644, PMID:8838812 ; - oboInOwl:hasDbXref UMLS:C1415210 ; oboInOwl:hasExactSynonym "GPR15", "g protein-coupled receptor 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2838 ; - skos:exactMatch HGNC_symbol:GPR15 ; + skos:exactMatch UMLS:C1415210, + HGNC:4469, + HGNC_symbol:GPR15 ; biolink:category biolink:Gene . OMIM:601167 a owl:Class ; @@ -134212,13 +137875,14 @@ OMIM:601167 a owl:Class ; PMID:9038354, PMID:9039850, PMID:9286708 ; - oboInOwl:hasDbXref UMLS:C1418217 ; oboInOwl:hasExactSynonym "P2RY1", "purinergic receptor p2y, g protein-coupled, 1", "purinoceptor p2y1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5028 ; - skos:exactMatch HGNC_symbol:P2RY1 ; + skos:exactMatch UMLS:C1418217, + HGNC:8539, + HGNC_symbol:P2RY1 ; biolink:category biolink:Gene . OMIM:601168 a owl:Class ; @@ -134228,7 +137892,6 @@ OMIM:601168 a owl:Class ; PMID:8551352, PMID:8973361, PMID:9115293 ; - oboInOwl:hasDbXref UMLS:C1414146 ; oboInOwl:hasExactSynonym "DPYSL3", "collapsin response mediator protein 4", "dihydropyrimidinase-like 3", @@ -134236,7 +137899,9 @@ OMIM:601168 a owl:Class ; "unc33-like phosphoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1809 ; - skos:exactMatch HGNC_symbol:DPYSL3 ; + skos:exactMatch UMLS:C1414146, + HGNC:3015, + HGNC_symbol:DPYSL3 ; biolink:category biolink:Gene . OMIM:601169 a owl:Class ; @@ -134247,8 +137912,8 @@ OMIM:601170 a owl:Class ; IAO:0000142 PMID:10480209, PMID:8615088, PMID:9050048 ; - oboInOwl:hasDbXref UMLS:C1832665 ; - oboInOwl:hasExactSynonym "muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers" . + oboInOwl:hasExactSynonym "muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers" ; + skos:exactMatch UMLS:C1832665 . OMIM:601171 a owl:Class ; IAO:0100001 OMIM:173321 ; @@ -134274,13 +137939,14 @@ OMIM:601175 a owl:Class ; PMID:8415637 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:619082 ; - oboInOwl:hasDbXref UMLS:C1412537, - UMLS:C5436769 ; oboInOwl:hasExactSynonym "ARL2", "adp-ribosylation factor-like gtpase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402 ; - skos:exactMatch HGNC_symbol:ARL2 ; + skos:exactMatch UMLS:C1412537, + UMLS:C5436769, + HGNC:693, + HGNC_symbol:ARL2 ; biolink:category biolink:Gene . OMIM:601176 a owl:Class ; @@ -134297,14 +137963,15 @@ OMIM:601176 a owl:Class ; PMID:9841137 ; RO:0002525 CHR:9606chr1p22.1 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1415098 ; oboInOwl:hasExactSynonym "GCLM", "gamma-glutamylcysteine synthetase, regulatory subunit", "glutamate-cysteine ligase, modifier subunit", "glutamate-cysteine ligase, regulatory" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2730 ; - skos:exactMatch HGNC_symbol:GCLM ; + skos:exactMatch UMLS:C1415098, + HGNC:4312, + HGNC_symbol:GCLM ; biolink:category biolink:Gene . OMIM:601178 a owl:Class ; @@ -134317,7 +137984,6 @@ OMIM:601178 a owl:Class ; PMID:31439799, PMID:7657653, PMID:8786113 ; - oboInOwl:hasDbXref UMLS:C1825397 ; oboInOwl:hasExactSynonym "CAPRIN1", "RNA granule protein 105", "caprin 1", @@ -134329,7 +137995,9 @@ OMIM:601178 a owl:Class ; "p137gpi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4076 ; - skos:exactMatch HGNC_symbol:CAPRIN1 ; + skos:exactMatch UMLS:C1825397, + HGNC:6743, + HGNC_symbol:CAPRIN1 ; biolink:category biolink:Gene . OMIM:601179 a owl:Class ; @@ -134350,12 +138018,13 @@ OMIM:601179 a owl:Class ; PMID:7849398, PMID:8421051, PMID:9822603 ; - oboInOwl:hasDbXref UMLS:C1419257 ; oboInOwl:hasExactSynonym "RAN", "ras-related nuclear protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5901 ; - skos:exactMatch HGNC_symbol:RAN ; + skos:exactMatch UMLS:C1419257, + HGNC:9846, + HGNC_symbol:RAN ; biolink:category biolink:Gene . OMIM:601180 a owl:Class ; @@ -134365,13 +138034,14 @@ OMIM:601180 a owl:Class ; PMID:7882974, PMID:8255297, PMID:9224656 ; - oboInOwl:hasDbXref UMLS:C1419258 ; oboInOwl:hasExactSynonym "RANBP1", "hpaii tiny fragments locus 9a", "ran-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5902 ; - skos:exactMatch HGNC_symbol:RANBP1 ; + skos:exactMatch UMLS:C1419258, + HGNC:9847, + HGNC_symbol:RANBP1 ; biolink:category biolink:Gene . OMIM:601181 a owl:Class ; @@ -134394,13 +138064,14 @@ OMIM:601181 a owl:Class ; PMID:9244446 ; RO:0002525 CHR:9606chr2q13 ; RO:0003303 OMIM:608033 ; - oboInOwl:hasDbXref UMLS:C1419259 ; oboInOwl:hasExactSynonym "RANBP2", "nup358", "ran-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5903 ; - skos:exactMatch HGNC_symbol:RANBP2 ; + skos:exactMatch UMLS:C1419259, + HGNC:9848, + HGNC_symbol:RANBP2 ; biolink:category biolink:Gene . OMIM:601182 a owl:Class ; @@ -134410,28 +138081,30 @@ OMIM:601182 a owl:Class ; PMID:7502077, PMID:8808289, PMID:8943353 ; - oboInOwl:hasDbXref UMLS:C1335084 ; oboInOwl:hasExactSynonym "ORC2", "orc2-like", "origin recognition complex, subunit 2", "origin recognition complex, subunit 2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4999 ; - skos:exactMatch HGNC_symbol:ORC2 ; + skos:exactMatch UMLS:C1335084, + HGNC:8488, + HGNC_symbol:ORC2 ; biolink:category biolink:Gene . OMIM:601183 a owl:Class ; rdfs:label "CRIP2" ; IAO:0000142 PMID:8824798, PMID:8843343 ; - oboInOwl:hasDbXref UMLS:C1456379 ; oboInOwl:hasExactSynonym "CRIP2", "cysteine-rich intestinal protein 2", "cysteine-rich protein 2", "lim domain protein esp1/crp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1397 ; - skos:exactMatch HGNC_symbol:CRIP2 ; + skos:exactMatch UMLS:C1456379, + HGNC:2361, + HGNC_symbol:CRIP2 ; biolink:category biolink:Gene . OMIM:601184 a owl:Class ; @@ -134443,14 +138116,15 @@ OMIM:601184 a owl:Class ; PMID:9447982 ; RO:0002525 CHR:9606chr13q32.1 ; RO:0003303 OMIM:616192 ; - oboInOwl:hasDbXref UMLS:C1418932 ; oboInOwl:hasExactSynonym "DNAJC3", "dnaj/hsp40 homolog, subfamily c, member 3", "protein kinase inhibitor p58", "protein kinase, interferon-inducible double-stranded rna-dependent, inhibitor of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5611 ; - skos:exactMatch HGNC_symbol:DNAJC3 ; + skos:exactMatch UMLS:C1418932, + HGNC:9439, + HGNC_symbol:DNAJC3 ; biolink:category biolink:Gene . OMIM:601185 a owl:Class ; @@ -134465,13 +138139,14 @@ OMIM:601185 a owl:Class ; PMID:9480753, PMID:9708804, PMID:9794484 ; - oboInOwl:hasDbXref UMLS:C1364160 ; oboInOwl:hasExactSynonym "STC1", "stanniocalcin", "stanniocalcin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6781 ; - skos:exactMatch HGNC_symbol:STC1 ; + skos:exactMatch UMLS:C1364160, + HGNC:11373, + HGNC_symbol:STC1 ; biolink:category biolink:Gene . OMIM:601187 a owl:Class ; @@ -134480,24 +138155,23 @@ OMIM:601187 a owl:Class ; PMID:8882779, PMID:9916849, PMID:9916855 ; - oboInOwl:hasDbXref UMLS:C0796046 ; - oboInOwl:hasExactSynonym "gurrieri syndrome" . + oboInOwl:hasExactSynonym "gurrieri syndrome" ; + skos:exactMatch UMLS:C0796046 . OMIM:601188 a owl:Class ; rdfs:label "suppression of tumorigenicity 12" ; IAO:0000142 PMID:8637912 ; RO:0002525 CHR:9606chr10pter-q11 ; - oboInOwl:hasDbXref UMLS:C1832660 ; oboInOwl:hasExactSynonym "ST12", "prostate adenocarcinoma 1", - "suppression of tumorigenicity 12" . + "suppression of tumorigenicity 12" ; + skos:exactMatch UMLS:C1832660 . OMIM:601189 a owl:Class ; rdfs:label "POLR2L" ; IAO:0000142 PMID:7651387, PMID:8524256, PMID:8786124 ; - oboInOwl:hasDbXref UMLS:C1418750 ; oboInOwl:hasExactSynonym "POLR2L", "RNA polymerase ii, 7.6-kd subunit", "polymerase ii, rna, subunit 50", @@ -134505,7 +138179,9 @@ OMIM:601189 a owl:Class ; "rpb10-beta, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5441 ; - skos:exactMatch HGNC_symbol:POLR2L ; + skos:exactMatch UMLS:C1418750, + HGNC:9199, + HGNC_symbol:POLR2L ; biolink:category biolink:Gene . OMIM:601190 a owl:Class ; @@ -134516,28 +138192,30 @@ OMIM:601190 a owl:Class ; PMID:8786098 ; RO:0002525 CHR:9606chr12p12.3 ; RO:0003303 OMIM:610024 ; - oboInOwl:hasDbXref UMLS:C1418430, - UMLS:C1864900, - UMLS:C3552227 ; oboInOwl:hasExactSynonym "PDE6H", "phosphodiesterase 6h", "phosphodiesterase 6h, cgmp-specific, cone, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5149 ; - skos:exactMatch HGNC_symbol:PDE6H ; + skos:exactMatch UMLS:C1418430, + UMLS:C1864900, + UMLS:C3552227, + HGNC:8790, + HGNC_symbol:PDE6H ; biolink:category biolink:Gene . OMIM:601191 a owl:Class ; rdfs:label "ERH" ; IAO:0000142 PMID:8786099 ; - oboInOwl:hasDbXref UMLS:C1414443 ; oboInOwl:hasExactSynonym "ERH", "droer, drosophila, homolog of", "enhancer of rudimentary, drosophila, homolog of", "erh mrna splicing and mitosis factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2079 ; - skos:exactMatch HGNC_symbol:ERH ; + skos:exactMatch UMLS:C1414443, + HGNC:3447, + HGNC_symbol:ERH ; biolink:category biolink:Gene . OMIM:601192 a owl:Class ; @@ -134549,24 +138227,26 @@ OMIM:601192 a owl:Class ; PMID:8838795 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:228980 ; - oboInOwl:hasDbXref UMLS:C1418623 ; oboInOwl:hasExactSynonym "PLA2G5", "phospholipase a2, group 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5322 ; - skos:exactMatch HGNC_symbol:PLA2G5 ; + skos:exactMatch UMLS:C1418623, + HGNC:9038, + HGNC_symbol:PLA2G5 ; biolink:category biolink:Gene . OMIM:601193 a owl:Class ; rdfs:label "CRISP1" ; IAO:0000142 PMID:8838800 ; - oboInOwl:hasDbXref UMLS:C1412267 ; oboInOwl:hasExactSynonym "CRISP1", "acidic epididymal glycoprotein-like 1", "cysteine-rich secretory protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:167 ; - skos:exactMatch HGNC_symbol:CRISP1 ; + skos:exactMatch UMLS:C1412267, + HGNC:304, + HGNC_symbol:CRISP1 ; biolink:category biolink:Gene . OMIM:601194 a owl:Class ; @@ -134590,13 +138270,14 @@ OMIM:601194 a owl:Class ; PMID:9435236 ; RO:0002525 CHR:9606chr4p14 ; RO:0003303 OMIM:613223 ; - oboInOwl:hasDbXref UMLS:C1366477 ; oboInOwl:hasExactSynonym "TLR1", "toll-like receptor 1", "toll/interleukin 1 receptor-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7096 ; - skos:exactMatch HGNC_symbol:TLR1 ; + skos:exactMatch UMLS:C1366477, + HGNC:11847, + HGNC_symbol:TLR1 ; biolink:category biolink:Gene . OMIM:601195 a owl:Class ; @@ -134613,11 +138294,11 @@ OMIM:601195 a owl:Class ; PMID:9631102, PMID:9662273, PMID:9753041 ; - oboInOwl:hasDbXref UMLS:C0268063 ; oboInOwl:hasExactSynonym "african iron overload", "bantu siderosis", "iron overload 1n africa" ; - rdfs:subClassOf OMIMPS:235200 . + rdfs:subClassOf OMIMPS:235200 ; + skos:exactMatch UMLS:C0268063 . OMIM:601196 a owl:Class ; rdfs:label "PRDM2" ; @@ -134629,13 +138310,14 @@ OMIM:601196 a owl:Class ; PMID:7538672, PMID:8661032, PMID:8679000 ; - oboInOwl:hasDbXref UMLS:C1418875 ; oboInOwl:hasExactSynonym "PRDM2", "pr domain-containing protein 2", "retinoblastoma protein-binding zinc finger protein riz" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7799 ; - skos:exactMatch HGNC_symbol:PRDM2 ; + skos:exactMatch UMLS:C1418875, + HGNC:9347, + HGNC_symbol:PRDM2 ; biolink:category biolink:Gene . OMIM:601197 a owl:Class ; @@ -134653,13 +138335,14 @@ OMIM:601197 a owl:Class ; PMID:9700199 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:616188 ; - oboInOwl:hasDbXref UMLS:C1421225 ; oboInOwl:hasExactSynonym "TUB", "tub bipartite transcription factor", "tubby, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7275 ; - skos:exactMatch HGNC_symbol:TUB ; + skos:exactMatch UMLS:C1421225, + HGNC:12406, + HGNC_symbol:TUB ; biolink:category biolink:Gene . OMIM:601198 a owl:Class ; @@ -134690,17 +138373,17 @@ OMIM:601198 a owl:Class ; PMID:9253358, PMID:9661634, PMID:9920108 ; - oboInOwl:hasDbXref UMLS:C3715128, - UMLS:C4048195, - ORPHA:112, - ORPHA:2238, - ORPHA:428 ; oboInOwl:hasExactSynonym "HYPOC1", "hypercalciuric hypocalcemia", "hypocalcemia, autosomal dominant 1", "hypocalcemia, autosomal dominant 1, with bartter syndrome", "hypocalcemia, familial" ; rdfs:subClassOf OMIMPS:601198 ; + skos:exactMatch UMLS:C3715128, + UMLS:C4048195, + ORPHA:112, + ORPHA:2238, + ORPHA:428 ; biolink:category biolink:Disease . OMIM:601199 a owl:Class ; @@ -134788,13 +138471,14 @@ OMIM:601199 a owl:Class ; PMID:9920108 ; RO:0002525 CHR:9606chr3q13.33-q21.1 ; RO:0003303 OMIM:612899 ; - oboInOwl:hasDbXref UMLS:C1413136 ; oboInOwl:hasExactSynonym "CASR", "calcium-sensing receptor", "parathyroid ca(2+)-sensing receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:846 ; - skos:exactMatch HGNC_symbol:CASR ; + skos:exactMatch UMLS:C1413136, + HGNC:1514, + HGNC_symbol:CASR ; biolink:category biolink:Gene . OMIM:601200 a owl:Class ; @@ -134806,20 +138490,20 @@ OMIM:601200 a owl:Class ; PMID:21882293, PMID:8382107, PMID:8636815 ; - oboInOwl:hasDbXref UMLS:C1266144 ; oboInOwl:hasExactSynonym "PPB", "pleuropulmonary blastoma", "ppb familial tumor and dysplasia syndrome" ; + skos:exactMatch UMLS:C1266144 ; biolink:category biolink:Disease . OMIM:601201 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:8852654 ; - oboInOwl:hasDbXref UMLS:C1832610 ; oboInOwl:hasExactSynonym "memo1", "methylation modifier for class 1 hla" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7795 ; + skos:exactMatch UMLS:C1832610 ; biolink:category biolink:Gene . OMIM:601203 a owl:Class ; @@ -134843,7 +138527,6 @@ OMIM:601203 a owl:Class ; PMID:8580363, PMID:8655130, PMID:9207179 ; - oboInOwl:hasDbXref UMLS:C1416400 ; oboInOwl:hasExactSynonym "IL1RL1", "growth stimulation-expressed gene, mouse, homolog of", "interleukin 1 receptor-like 1", @@ -134851,7 +138534,9 @@ OMIM:601203 a owl:Class ; "st2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9173 ; - skos:exactMatch HGNC_symbol:IL1RL1 ; + skos:exactMatch UMLS:C1416400, + HGNC:5998, + HGNC_symbol:IL1RL1 ; biolink:category biolink:Gene . OMIM:601204 a owl:Class ; @@ -134860,14 +138545,15 @@ OMIM:601204 a owl:Class ; PMID:11087758, PMID:11278880, PMID:8655148 ; - oboInOwl:hasDbXref UMLS:C1419069 ; oboInOwl:hasExactSynonym "PTGFRN", "cd9 partner 1", "fp regulatory protein", "prostaglandin f2 receptor negative regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5738 ; - skos:exactMatch HGNC_symbol:PTGFRN ; + skos:exactMatch UMLS:C1419069, + HGNC:9601, + HGNC_symbol:PTGFRN ; biolink:category biolink:Gene . OMIM:601205 a owl:Class ; @@ -134896,13 +138582,14 @@ OMIM:601205 a owl:Class ; PMID:9770533 ; RO:0002525 CHR:9606chr14q23.1 ; RO:0003303 OMIM:605192 ; - oboInOwl:hasDbXref UMLS:C1420072 ; oboInOwl:hasExactSynonym "SIX1", "sine oculis homeobox, drosophila, homolog of, 1", "six homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6495 ; - skos:exactMatch HGNC_symbol:SIX1 ; + skos:exactMatch UMLS:C1420072, + HGNC:10887, + HGNC_symbol:SIX1 ; biolink:category biolink:Gene . OMIM:601206 a owl:Class ; @@ -134919,7 +138606,6 @@ OMIM:601206 a owl:Class ; PMID:7779176, PMID:7859290, PMID:8617501 ; - oboInOwl:hasDbXref UMLS:C1418760 ; oboInOwl:hasExactSynonym "POU2AF1", "bob1", "ocab", @@ -134927,7 +138613,9 @@ OMIM:601206 a owl:Class ; "pou domain, class 2, associating factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5450 ; - skos:exactMatch HGNC_symbol:POU2AF1 ; + skos:exactMatch UMLS:C1418760, + HGNC:9211, + HGNC_symbol:POU2AF1 ; biolink:category biolink:Gene . OMIM:601207 a owl:Class ; @@ -134935,14 +138623,15 @@ OMIM:601207 a owl:Class ; IAO:0000142 PMID:10206945, PMID:8617502, PMID:9099683 ; - oboInOwl:hasDbXref UMLS:C1414036 ; oboInOwl:hasExactSynonym "DGKQ", "dgk-delta, formerly", "diacylglycerol kinase, delta, 110-kd, formerly", "diacylglycerol kinase, theta, 110-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1609 ; - skos:exactMatch HGNC_symbol:DGKQ ; + skos:exactMatch UMLS:C1414036, + HGNC:2856, + HGNC_symbol:DGKQ ; biolink:category biolink:Gene . OMIM:601209 a owl:Class ; @@ -134953,12 +138642,13 @@ OMIM:601209 a owl:Class ; PMID:7607214, PMID:8367306, PMID:8833161 ; - oboInOwl:hasDbXref UMLS:C1418297 ; oboInOwl:hasExactSynonym "PCBP1", "poly(rc)-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5093 ; - skos:exactMatch HGNC_symbol:PCBP1 ; + skos:exactMatch UMLS:C1418297, + HGNC:8647, + HGNC_symbol:PCBP1 ; biolink:category biolink:Gene . OMIM:601210 a owl:Class ; @@ -134972,14 +138662,15 @@ OMIM:601210 a owl:Class ; PMID:8367306, PMID:8833161, PMID:9852755 ; - oboInOwl:hasDbXref UMLS:C1418298 ; oboInOwl:hasExactSynonym "PCBP2", "heterogeneous nuclear ribonucleoprotein e2", "hnrpe2", "poly(rc)-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5094 ; - skos:exactMatch HGNC_symbol:PCBP2 ; + skos:exactMatch UMLS:C1418298, + HGNC:8648, + HGNC_symbol:PCBP2 ; biolink:category biolink:Gene . OMIM:601211 a owl:Class ; @@ -134987,13 +138678,14 @@ OMIM:601211 a owl:Class ; IAO:0000142 PMID:7636245, PMID:8786105, PMID:9064337 ; - oboInOwl:hasDbXref UMLS:C1332718 ; oboInOwl:hasExactSynonym "ADGRE5", "adhesion g protein-coupled receptor e5", "cd97 antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:976 ; - skos:exactMatch HGNC_symbol:ADGRE5 ; + skos:exactMatch UMLS:C1332718, + HGNC:1711, + HGNC_symbol:ADGRE5 ; biolink:category biolink:Gene . OMIM:601212 a owl:Class ; @@ -135008,7 +138700,6 @@ OMIM:601212 a owl:Class ; PMID:8497321, PMID:8838818, PMID:9422762 ; - oboInOwl:hasDbXref UMLS:C1335273 ; oboInOwl:hasExactSynonym "PTK2B", "cell adhesion kinase, beta", "focal adhesion kinase 2", @@ -135016,7 +138707,9 @@ OMIM:601212 a owl:Class ; "protein-tyrosine kinase 2, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2185 ; - skos:exactMatch HGNC_symbol:PTK2B ; + skos:exactMatch UMLS:C1335273, + HGNC:9612, + HGNC_symbol:PTK2B ; biolink:category biolink:Gene . OMIM:601213 a owl:Class ; @@ -135024,14 +138717,15 @@ OMIM:601213 a owl:Class ; IAO:0000142 PMID:7539425, PMID:8641422, PMID:8838820 ; - oboInOwl:hasDbXref UMLS:C1412092 ; oboInOwl:hasExactSynonym "RNS4I", "atp-binding cassette, subfamily e, member 1", "ribonuclease 4 inhibitor", "rnase 50 inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6059 ; - skos:exactMatch HGNC_symbol:ABCE1 ; + skos:exactMatch UMLS:C1412092, + HGNC:69, + HGNC_symbol:ABCE1 ; biolink:category biolink:Gene . OMIM:601215 a owl:Class ; @@ -135072,9 +138766,6 @@ OMIM:601215 a owl:Class ; PMID:9590286 ; RO:0002525 CHR:9606chr3q23 ; RO:0003303 OMIM:210600 ; - oboInOwl:hasDbXref UMLS:C1332120, - UMLS:C3281203, - UMLS:C4551474 ; oboInOwl:hasExactSynonym "ATR", "ataxia-telangiectasia and rad3-related", "atr gene", @@ -135082,7 +138773,11 @@ OMIM:601215 a owl:Class ; "frap-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:545 ; - skos:exactMatch HGNC_symbol:ATR ; + skos:exactMatch UMLS:C1332120, + UMLS:C3281203, + UMLS:C4551474, + HGNC:882, + HGNC_symbol:ATR ; biolink:category biolink:Gene . OMIM:601217 a owl:Class ; @@ -135091,8 +138786,8 @@ OMIM:601217 a owl:Class ; PMID:3334010, PMID:489029, PMID:8721564 ; - oboInOwl:hasDbXref UMLS:C1832593 ; - oboInOwl:hasExactSynonym "alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism" . + oboInOwl:hasExactSynonym "alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism" ; + skos:exactMatch UMLS:C1832593 . OMIM:601218 a owl:Class ; rdfs:label "ADARB1" ; @@ -135109,8 +138804,6 @@ OMIM:601218 a owl:Class ; PMID:9330641 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:618862 ; - oboInOwl:hasDbXref UMLS:C1412216, - UMLS:C5394312 ; oboInOwl:hasExactSynonym "ADARB1", "RNA editase 1", "adenosine deaminase, rna-specific, 2", @@ -135118,7 +138811,10 @@ OMIM:601218 a owl:Class ; "rna-editing enzyme 1, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:104 ; - skos:exactMatch HGNC_symbol:ADARB1 ; + skos:exactMatch UMLS:C1412216, + UMLS:C5394312, + HGNC:226, + HGNC_symbol:ADARB1 ; biolink:category biolink:Gene . OMIM:601219 a owl:Class ; @@ -135128,16 +138824,16 @@ OMIM:601219 a owl:Class ; OMIM:601220 a owl:Class ; rdfs:label "osteoporosis and oculocutaneous hypopigmentation syndrome" ; IAO:0000142 PMID:8721572 ; - oboInOwl:hasDbXref UMLS:C1832592 ; oboInOwl:hasExactSynonym "OOCH", - "osteoporosis and oculocutaneous hypopigmentation syndrome" . + "osteoporosis and oculocutaneous hypopigmentation syndrome" ; + skos:exactMatch UMLS:C1832592 . OMIM:601221 a owl:Class ; rdfs:label "tissue-specific extinguisher 3" ; IAO:0000142 PMID:7940022 ; - oboInOwl:hasDbXref UMLS:C1832591 ; oboInOwl:hasExactSynonym "tissue-specific extinguisher 3", - "tse3" . + "tse3" ; + skos:exactMatch UMLS:C1832591 . OMIM:601222 a owl:Class ; IAO:0100001 OMIM:185900 ; @@ -135149,9 +138845,9 @@ OMIM:601223 a owl:Class ; PMID:6649903, PMID:7857885, PMID:8882403 ; - oboInOwl:hasDbXref UMLS:C1832589 ; oboInOwl:hasExactSynonym "neuronal intestinal dysplasia, iia B", - "nid B" . + "nid B" ; + skos:exactMatch UMLS:C1832589 . OMIM:601224 a owl:Class ; rdfs:label "potocki-shaffer syndrome" ; @@ -135173,27 +138869,28 @@ OMIM:601224 a owl:Class ; PMID:9374397, PMID:9512164 ; RO:0002525 CHR:9606chr11p11.2 ; - oboInOwl:hasDbXref UMLS:C1832588, - ORPHA:52022 ; oboInOwl:hasExactSynonym "chromosome 11p11.2 deletion syndrome", "defect11 syndrome", "potocki-shaffer syndrome", "proximal 11p deletion syndrome", "pss" ; + skos:exactMatch UMLS:C1832588, + ORPHA:52022 ; biolink:category biolink:Disease . OMIM:601225 a owl:Class ; rdfs:label "DVL1L1" ; IAO:0000142 PMID:3803719, PMID:8644734 ; - oboInOwl:hasDbXref UMLS:C1414200 ; oboInOwl:hasExactSynonym "DVL1L1", "dishevelled 1-like 1", "dishevelled, drosophila, homolog-like", "dsh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8215 ; - skos:exactMatch HGNC_symbol:DVL1P1 ; + skos:exactMatch UMLS:C1414200, + HGNC:3085, + HGNC_symbol:DVL1P1 ; biolink:category biolink:Gene . OMIM:601226 a owl:Class ; @@ -135210,9 +138907,9 @@ OMIM:601230 a owl:Class ; PMID:12485471, PMID:15489956, PMID:8731659 ; - oboInOwl:hasDbXref UMLS:C1832586 ; oboInOwl:hasExactSynonym "dermatitis herpetiformis, familial", - "dh" . + "dh" ; + skos:exactMatch UMLS:C1832586 . OMIM:601231 a owl:Class ; rdfs:label "MTOR" ; @@ -135314,9 +139011,6 @@ OMIM:601231 a owl:Class ; PMID:9653645 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:616638 ; - oboInOwl:hasDbXref UMLS:C1414805, - UMLS:C4225259, - UMLS:C4479673 ; oboInOwl:hasExactSynonym "MTOR", "fk506-binding protein 12-rapamycin complex-associated protein 1", "fkbp12-rapamycin complex-associated protein 1", @@ -135330,7 +139024,11 @@ OMIM:601231 a owl:Class ; "raft1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2475 ; - skos:exactMatch HGNC_symbol:MTOR ; + skos:exactMatch UMLS:C1414805, + UMLS:C4225259, + UMLS:C4479673, + HGNC:3942, + HGNC_symbol:MTOR ; biolink:category biolink:Gene . OMIM:601232 a owl:Class ; @@ -135357,7 +139055,6 @@ OMIM:601232 a owl:Class ; PMID:7624799 ; RO:0002525 CHR:9606chr7q22.3 ; RO:0003303 OMIM:619802 ; - oboInOwl:hasDbXref UMLS:C1335214 ; oboInOwl:hasExactSynonym "PIK3CG", "p110-gamma", "p120-pi3k", @@ -135367,7 +139064,9 @@ OMIM:601232 a owl:Class ; "pik3-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5294 ; - skos:exactMatch HGNC_symbol:PIK3CG ; + skos:exactMatch UMLS:C1335214, + HGNC:8978, + HGNC_symbol:PIK3CG ; biolink:category biolink:Gene . OMIM:601233 a owl:Class ; @@ -135375,12 +139074,13 @@ OMIM:601233 a owl:Class ; IAO:0000142 PMID:11134153, PMID:3086749, PMID:8838799 ; - oboInOwl:hasDbXref UMLS:C1416438 ; oboInOwl:hasExactSynonym "INHBC", "inhibin, beta c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3626 ; - skos:exactMatch HGNC_symbol:INHBC ; + skos:exactMatch UMLS:C1416438, + HGNC:6068, + HGNC_symbol:INHBC ; biolink:category biolink:Gene . OMIM:601234 a owl:Class ; @@ -135391,27 +139091,29 @@ OMIM:601234 a owl:Class ; PMID:8047162, PMID:8698236, PMID:8835540 ; - oboInOwl:hasDbXref UMLS:C1417590 ; oboInOwl:hasExactSynonym "NACA", "nascent polypeptide-associated complex, alpha polypeptide", "skeletal muscle naca" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4666 ; - skos:exactMatch HGNC_symbol:NACA ; + skos:exactMatch UMLS:C1417590, + HGNC:7629, + HGNC_symbol:NACA ; biolink:category biolink:Gene . OMIM:601235 a owl:Class ; rdfs:label "DDX10" ; IAO:0000142 PMID:8660968, PMID:9166830 ; - oboInOwl:hasDbXref UMLS:C1413952 ; oboInOwl:hasExactSynonym "DDX10", "ddx10/nup98 fusion gene", "dead-box helicase 10", "dead/h-box 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1662 ; - skos:exactMatch HGNC_symbol:DDX10 ; + skos:exactMatch UMLS:C1413952, + HGNC:2735, + HGNC_symbol:DDX10 ; biolink:category biolink:Gene . OMIM:601236 a owl:Class ; @@ -135428,14 +139130,15 @@ OMIM:601236 a owl:Class ; PMID:8660969, PMID:9569023, PMID:9620555 ; - oboInOwl:hasDbXref UMLS:C1333202 ; oboInOwl:hasExactSynonym "DAB2", "dab adaptor protein 2", "differentially expressed 1n ovarian cancer 2", "disabled, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1601 ; - skos:exactMatch HGNC_symbol:DAB2 ; + skos:exactMatch UMLS:C1333202, + HGNC:2662, + HGNC_symbol:DAB2 ; biolink:category biolink:Gene . OMIM:601237 a owl:Class ; @@ -135445,7 +139148,6 @@ OMIM:601237 a owl:Class ; PMID:8660987, PMID:9096764, PMID:9615224 ; - oboInOwl:hasDbXref UMLS:C1421667 ; oboInOwl:hasExactSynonym "RNF112", "brain finger protein, mouse, homolog of", "neurolastin", @@ -135453,7 +139155,9 @@ OMIM:601237 a owl:Class ; "zinc finger protein 179" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7732 ; - skos:exactMatch HGNC_symbol:RNF112 ; + skos:exactMatch UMLS:C1421667, + HGNC:12968, + HGNC_symbol:RNF112 ; biolink:category biolink:Gene . OMIM:601239 a owl:Class ; @@ -135470,7 +139174,6 @@ OMIM:601239 a owl:Class ; PMID:9419360 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:604169 ; - oboInOwl:hasDbXref UMLS:C1414176 ; oboInOwl:hasExactSynonym "DTNA", "d18s892e", "dystrobrevin", @@ -135478,7 +139181,9 @@ OMIM:601239 a owl:Class ; "dystrophin-related protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1837 ; - skos:exactMatch HGNC_symbol:DTNA ; + skos:exactMatch UMLS:C1414176, + HGNC:3057, + HGNC_symbol:DTNA ; biolink:category biolink:Gene . OMIM:601240 a owl:Class ; @@ -135494,13 +139199,14 @@ OMIM:601240 a owl:Class ; PMID:9570966 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:612736 ; - oboInOwl:hasDbXref UMLS:C0574080, - UMLS:C1414963 ; oboInOwl:hasExactSynonym "GAMT", "guanidinoacetate methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2593 ; - skos:exactMatch HGNC_symbol:GAMT ; + skos:exactMatch UMLS:C0574080, + UMLS:C1414963, + HGNC:4136, + HGNC_symbol:GAMT ; biolink:category biolink:Gene . OMIM:601241 a owl:Class ; @@ -135531,7 +139237,6 @@ OMIM:601241 a owl:Class ; PMID:9486654, PMID:9486655, PMID:9651585 ; - oboInOwl:hasDbXref UMLS:C1333891 ; oboInOwl:hasExactSynonym "HDAC1", "hd1", "histone deacetylase 1", @@ -135539,7 +139244,9 @@ OMIM:601241 a owl:Class ; "rpd3-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3065 ; - skos:exactMatch HGNC_symbol:HDAC1 ; + skos:exactMatch UMLS:C1333891, + HGNC:4852, + HGNC_symbol:HDAC1 ; biolink:category biolink:Gene . OMIM:601242 a owl:Class ; @@ -135554,7 +139261,6 @@ OMIM:601242 a owl:Class ; PMID:26524528, PMID:31666698, PMID:8833088 ; - oboInOwl:hasDbXref UMLS:C1417005 ; oboInOwl:hasExactSynonym "MAP1LC3A", "lc3", "lc3a", @@ -135564,7 +139270,9 @@ OMIM:601242 a owl:Class ; "microtubule-associated proteins 1a and 1b, light chain 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84557 ; - skos:exactMatch HGNC_symbol:MAP1LC3A ; + skos:exactMatch UMLS:C1417005, + HGNC:6838, + HGNC_symbol:MAP1LC3A ; biolink:category biolink:Gene . OMIM:601243 a owl:Class ; @@ -135583,14 +139291,15 @@ OMIM:601243 a owl:Class ; PMID:9450867 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:618097 ; - oboInOwl:hasDbXref UMLS:C1336659 ; oboInOwl:hasExactSynonym "TOP3A", "topo iii-alpha", "topoisomerase, dna, 3", "topoisomerase, dna, iii, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7156 ; - skos:exactMatch HGNC_symbol:TOP3A ; + skos:exactMatch UMLS:C1336659, + HGNC:11992, + HGNC_symbol:TOP3A ; biolink:category biolink:Gene . OMIM:601244 a owl:Class ; @@ -135599,7 +139308,6 @@ OMIM:601244 a owl:Class ; PMID:12464390, PMID:1683630, PMID:8660992 ; - oboInOwl:hasDbXref UMLS:C1415359 ; oboInOwl:hasExactSynonym "GUCY1A2", "guanylate cyclase 1, soluble, alpha-2", "guanylyl cyclase, nitric oxide-sensitive, alpha-2 subunit", @@ -135609,7 +139317,9 @@ OMIM:601244 a owl:Class ; "nogc, alpha-2 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2977 ; - skos:exactMatch HGNC_symbol:GUCY1A2 ; + skos:exactMatch UMLS:C1415359, + HGNC:4684, + HGNC_symbol:GUCY1A2 ; biolink:category biolink:Gene . OMIM:601245 a owl:Class ; @@ -135618,14 +139328,15 @@ OMIM:601245 a owl:Class ; PMID:7600578, PMID:8660983, PMID:8792829 ; - oboInOwl:hasDbXref UMLS:C1413375 ; oboInOwl:hasExactSynonym "CHAF1B", "caf1a", "chromatin assembly factor i, p60 subunit", "chromatin assembly factor i, subunit B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8208 ; - skos:exactMatch HGNC_symbol:CHAF1B ; + skos:exactMatch UMLS:C1413375, + HGNC:1911, + HGNC_symbol:CHAF1B ; biolink:category biolink:Gene . OMIM:601246 a owl:Class ; @@ -135633,14 +139344,15 @@ OMIM:601246 a owl:Class ; IAO:0000142 PMID:10549285, PMID:26659182, PMID:7600578 ; - oboInOwl:hasDbXref UMLS:C1413374 ; oboInOwl:hasExactSynonym "CHAF1A", "caf1b", "chromatin assembly factor i, p150 subunit", "chromatin assembly factor i, subunit a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10036 ; - skos:exactMatch HGNC_symbol:CHAF1A ; + skos:exactMatch UMLS:C1413374, + HGNC:1910, + HGNC_symbol:CHAF1A ; biolink:category biolink:Gene . OMIM:601247 a owl:Class ; @@ -135651,13 +139363,14 @@ OMIM:601247 a owl:Class ; PMID:8276400 ; RO:0002525 CHR:9606chr14q21.3 ; RO:0003303 OMIM:616559 ; - oboInOwl:hasDbXref UMLS:C1420315 ; oboInOwl:hasExactSynonym "SOS2", "son of sevenless, drosophila, homolog 2", "sos ras/rac guanine nucleotide exchange factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6655 ; - skos:exactMatch HGNC_symbol:SOS2 ; + skos:exactMatch UMLS:C1420315, + HGNC:11188, + HGNC_symbol:SOS2 ; biolink:category biolink:Gene . OMIM:601248 a owl:Class ; @@ -135678,8 +139391,6 @@ OMIM:601248 a owl:Class ; PMID:9418903 ; RO:0002525 CHR:9606chr2q14.3 ; RO:0003303 OMIM:255200 ; - oboInOwl:hasDbXref UMLS:C0410204, - UMLS:C1332412 ; oboInOwl:hasExactSynonym "BIN1", "amphiphysin 2", "amphiphysin-like, formerly", @@ -135687,7 +139398,10 @@ OMIM:601248 a owl:Class ; "bridging integrator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:274 ; - skos:exactMatch HGNC_symbol:BIN1 ; + skos:exactMatch UMLS:C0410204, + UMLS:C1332412, + HGNC:1052, + HGNC_symbol:BIN1 ; biolink:category biolink:Gene . OMIM:601249 a owl:Class ; @@ -135695,13 +139409,14 @@ OMIM:601249 a owl:Class ; IAO:0000142 PMID:8132556, PMID:8611620, PMID:8660991 ; - oboInOwl:hasDbXref UMLS:C1418958 ; oboInOwl:hasExactSynonym "PRPSAP1", "pap39", "phosphoribosylpyrophosphate synthetase-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5635 ; - skos:exactMatch HGNC_symbol:PRPSAP1 ; + skos:exactMatch UMLS:C1418958, + HGNC:9466, + HGNC_symbol:PRPSAP1 ; biolink:category biolink:Gene . OMIM:601250 a owl:Class ; @@ -135713,12 +139428,13 @@ OMIM:601250 a owl:Class ; PMID:17784942, PMID:8622914, PMID:8700890 ; - oboInOwl:hasDbXref UMLS:C1417375 ; oboInOwl:hasExactSynonym "MSRA", "peptide methionine sulfoxide reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4482 ; - skos:exactMatch HGNC_symbol:MSRA ; + skos:exactMatch UMLS:C1417375, + HGNC:7377, + HGNC_symbol:MSRA ; biolink:category biolink:Gene . OMIM:601251 a owl:Class ; @@ -135734,14 +139450,15 @@ OMIM:601252 a owl:Class ; PMID:8573080, PMID:8576206, PMID:8884275 ; - oboInOwl:hasDbXref UMLS:C1414559 ; oboInOwl:hasExactSynonym "FCN1", "collagen/fibrinogen domain-containing lectin 1 p35-like", "ficolin 1", "ficolin b, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2219 ; - skos:exactMatch HGNC_symbol:FCN1 ; + skos:exactMatch UMLS:C1414559, + HGNC:3623, + HGNC_symbol:FCN1 ; biolink:category biolink:Gene . OMIM:601253 a owl:Class ; @@ -135788,13 +139505,14 @@ OMIM:601253 a owl:Class ; PMID:9537420 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:606072 ; - oboInOwl:hasDbXref UMLS:C1413146 ; oboInOwl:hasExactSynonym "CAV3", "caveolin 3", "m-caveolin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:859 ; - skos:exactMatch HGNC_symbol:CAV3 ; + skos:exactMatch UMLS:C1413146, + HGNC:1529, + HGNC_symbol:CAV3 ; biolink:category biolink:Gene . OMIM:601254 a owl:Class ; @@ -135803,7 +139521,6 @@ OMIM:601254 a owl:Class ; PMID:16728640, PMID:7601337, PMID:8621675 ; - oboInOwl:hasDbXref UMLS:C1334475 ; oboInOwl:hasExactSynonym "MAP2K6", "mapk/erk kinase 6", "mitogen-activated protein kinase kinase 6", @@ -135811,7 +139528,9 @@ OMIM:601254 a owl:Class ; "protein kinase, mitogen-activated, kinase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5608 ; - skos:exactMatch HGNC_symbol:MAP2K6 ; + skos:exactMatch UMLS:C1334475, + HGNC:6846, + HGNC_symbol:MAP2K6 ; biolink:category biolink:Gene . OMIM:601255 a owl:Class ; @@ -135849,11 +139568,6 @@ OMIM:601255 a owl:Class ; PMID:9548721 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:610357 ; - oboInOwl:hasDbXref UMLS:C1412698, - UMLS:C1835896, - UMLS:C3280168, - UMLS:C5235139, - UMLS:C5393830 ; oboInOwl:hasExactSynonym "KIF1A", "axonal transporter of synaptic vesicles", "kinesin family member 1a", @@ -135861,7 +139575,13 @@ OMIM:601255 a owl:Class ; "unc104, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:547 ; - skos:exactMatch HGNC_symbol:KIF1A ; + skos:exactMatch UMLS:C1412698, + UMLS:C1835896, + UMLS:C3280168, + UMLS:C5235139, + UMLS:C5393830, + HGNC:888, + HGNC_symbol:KIF1A ; biolink:category biolink:Gene . OMIM:601256 a owl:Class ; @@ -135876,13 +139596,14 @@ OMIM:601257 a owl:Class ; PMID:24870230, PMID:7689221, PMID:8135819 ; - oboInOwl:hasDbXref UMLS:C1333209 ; oboInOwl:hasExactSynonym "DDX1", "dead-box helicase 1", "dead/h-box 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1653 ; - skos:exactMatch HGNC_symbol:DDX1 ; + skos:exactMatch UMLS:C1333209, + HGNC:2734, + HGNC_symbol:DDX1 ; biolink:category biolink:Gene . OMIM:601258 a owl:Class ; @@ -135891,13 +139612,14 @@ OMIM:601258 a owl:Class ; PMID:1717443, PMID:8631948, PMID:9570962 ; - oboInOwl:hasDbXref UMLS:C1413880 ; oboInOwl:hasExactSynonym "CYP2J2", "cytochrome p450 arachidonic acid epoxygenase", "cytochrome p450, subfamily iij, polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1573 ; - skos:exactMatch HGNC_symbol:CYP2J2 ; + skos:exactMatch UMLS:C1413880, + HGNC:2634, + HGNC_symbol:CYP2J2 ; biolink:category biolink:Gene . OMIM:601259 a owl:Class ; @@ -135912,12 +139634,13 @@ OMIM:601259 a owl:Class ; PMID:9126491 ; RO:0002525 CHR:9606chr4q13.3 ; RO:0003303 OMIM:616270 ; - oboInOwl:hasDbXref UMLS:C1412375 ; oboInOwl:hasExactSynonym "AMBN", "ameloblastin enamel matrix protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:258 ; - skos:exactMatch HGNC_symbol:AMBN ; + skos:exactMatch UMLS:C1412375, + HGNC:452, + HGNC_symbol:AMBN ; biolink:category biolink:Gene . OMIM:601261 a owl:Class ; @@ -135925,26 +139648,28 @@ OMIM:601261 a owl:Class ; IAO:0000142 PMID:26002080, PMID:26907683, PMID:7486829 ; - oboInOwl:hasDbXref UMLS:C1824083 ; oboInOwl:hasExactSynonym "ZSCAN21", "zinc finger protein 38", "zinc finger protein, kruppel type, 25", "zinc finger- and scan domain-containing protein 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7589 ; - skos:exactMatch HGNC_symbol:ZSCAN21 ; + skos:exactMatch UMLS:C1824083, + HGNC:13104, + HGNC_symbol:ZSCAN21 ; biolink:category biolink:Gene . OMIM:601262 a owl:Class ; rdfs:label "ZNF16" ; IAO:0000142 PMID:7486829 ; - oboInOwl:hasDbXref UMLS:C1421649 ; oboInOwl:hasExactSynonym "ZNF16", "zinc finger protein 16", "zinc finger protein, kruppel type, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7564 ; - skos:exactMatch HGNC_symbol:ZNF16 ; + skos:exactMatch UMLS:C1421649, + HGNC:12947, + HGNC_symbol:ZNF16 ; biolink:category biolink:Gene . OMIM:601263 a owl:Class ; @@ -135967,7 +139692,6 @@ OMIM:601263 a owl:Class ; PMID:9660836 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:615280 ; - oboInOwl:hasDbXref UMLS:C1456385 ; oboInOwl:hasExactSynonym "MAP2K2", "mapk/erk kinase 2", "mitogen-activated protein kinase kinase 2", @@ -135975,7 +139699,9 @@ OMIM:601263 a owl:Class ; "protein kinase, mitogen-activated, kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5605 ; - skos:exactMatch HGNC_symbol:MAP2K2 ; + skos:exactMatch UMLS:C1456385, + HGNC:6842, + HGNC_symbol:MAP2K2 ; biolink:category biolink:Gene . OMIM:601264 a owl:Class ; @@ -136000,13 +139726,14 @@ OMIM:601265 a owl:Class ; PMID:9354794 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:270100 ; - oboInOwl:hasDbXref UMLS:C1417752 ; oboInOwl:hasExactSynonym "NODAL", "nodal growth differentiation factor", "nodal, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4838 ; - skos:exactMatch HGNC_symbol:NODAL ; + skos:exactMatch UMLS:C1417752, + HGNC:7865, + HGNC_symbol:NODAL ; biolink:category biolink:Gene . OMIM:601266 a owl:Class ; @@ -136020,7 +139747,6 @@ OMIM:601266 a owl:Class ; PMID:8910358, PMID:9070952, PMID:9228092 ; - oboInOwl:hasDbXref UMLS:C1414193 ; oboInOwl:hasExactSynonym "DUT", "deoxyuridine triphosphatase", "deoxyuridine triphosphate nucleotidohydrolase", @@ -136028,7 +139754,9 @@ OMIM:601266 a owl:Class ; "dutpase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1854 ; - skos:exactMatch HGNC_symbol:DUT ; + skos:exactMatch UMLS:C1414193, + HGNC:3078, + HGNC_symbol:DUT ; biolink:category biolink:Gene . OMIM:601267 a owl:Class ; @@ -136062,7 +139790,6 @@ OMIM:601267 a owl:Class ; PMID:9662369, PMID:9732872 ; RO:0002525 CHR:9606chr3p21.31 ; - oboInOwl:hasDbXref UMLS:C1413188 ; oboInOwl:hasExactSynonym "CCR2", "ccr2a", "ccr2b", @@ -136073,7 +139800,9 @@ OMIM:601267 a owl:Class ; "monocyte chemotactic protein 1 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729230 ; - skos:exactMatch HGNC_symbol:CCR2 ; + skos:exactMatch UMLS:C1413188, + HGNC:1603, + HGNC_symbol:CCR2 ; biolink:category biolink:Gene . OMIM:601268 a owl:Class ; @@ -136092,7 +139821,6 @@ OMIM:601268 a owl:Class ; PMID:9143512, PMID:9302298, PMID:9419219 ; - oboInOwl:hasDbXref UMLS:C1413189 ; oboInOwl:hasExactSynonym "CCR3", "chemokine, cc motif, receptor 3", "ckr3", @@ -136100,7 +139828,9 @@ OMIM:601268 a owl:Class ; "eotaxin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1232 ; - skos:exactMatch HGNC_symbol:CCR3 ; + skos:exactMatch UMLS:C1413189, + HGNC:1604, + HGNC_symbol:CCR3 ; biolink:category biolink:Gene . OMIM:601269 a owl:Class ; @@ -136117,7 +139847,6 @@ OMIM:601269 a owl:Class ; PMID:9721222 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:617713 ; - oboInOwl:hasDbXref UMLS:C1412933 ; oboInOwl:hasExactSynonym "C1QBP", "c1q globular domain-binding protein", "complement component c1q-binding protein", @@ -136126,14 +139855,15 @@ OMIM:601269 a owl:Class ; "p32 splicing factor sf2-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:708 ; - skos:exactMatch HGNC_symbol:C1QBP ; + skos:exactMatch UMLS:C1412933, + HGNC:1243, + HGNC_symbol:C1QBP ; biolink:category biolink:Gene . OMIM:601270 a owl:Class ; rdfs:label "CYP4F3" ; IAO:0000142 PMID:8486631, PMID:9539102 ; - oboInOwl:hasDbXref UMLS:C1413889 ; oboInOwl:hasExactSynonym "CYP4F3", "cytochrome p450, family 4, subfamily f, polypeptide 3", "cytochrome p450, subfamily ivf, polypeptide 3", @@ -136141,7 +139871,9 @@ OMIM:601270 a owl:Class ; "ltb4 omega-hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4051 ; - skos:exactMatch HGNC_symbol:CYP4F3 ; + skos:exactMatch UMLS:C1413889, + HGNC:2646, + HGNC_symbol:CYP4F3 ; biolink:category biolink:Gene . OMIM:601272 a owl:Class ; @@ -136150,13 +139882,14 @@ OMIM:601272 a owl:Class ; PMID:20133524, PMID:8638121, PMID:9819414 ; - oboInOwl:hasDbXref UMLS:C1420300 ; oboInOwl:hasExactSynonym "SNX1", "sorting nexin 1", "sorting nexin 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6642 ; - skos:exactMatch HGNC_symbol:SNX1 ; + skos:exactMatch UMLS:C1420300, + HGNC:11172, + HGNC_symbol:SNX1 ; biolink:category biolink:Gene . OMIM:601273 a owl:Class ; @@ -136168,7 +139901,6 @@ OMIM:601273 a owl:Class ; PMID:8844170, PMID:9147638, PMID:9405660 ; - oboInOwl:hasDbXref UMLS:C1413513 ; oboInOwl:hasExactSynonym "CLTCL1", "chc22", "clathrin, heavy polypeptide d", @@ -136176,7 +139908,9 @@ OMIM:601273 a owl:Class ; "clh22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8218 ; - skos:exactMatch HGNC_symbol:CLTCL1 ; + skos:exactMatch UMLS:C1413513, + HGNC:2093, + HGNC_symbol:CLTCL1 ; biolink:category biolink:Gene . OMIM:601274 a owl:Class ; @@ -136184,13 +139918,14 @@ OMIM:601274 a owl:Class ; IAO:0000142 PMID:8394361, PMID:8509424, PMID:8576264 ; - oboInOwl:hasDbXref UMLS:C1425510 ; oboInOwl:hasExactSynonym "PTGR1", "leukotriene b4 12-hydroxydehydrogenase", "prostaglandin reductase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22949 ; - skos:exactMatch HGNC_symbol:PTGR1 ; + skos:exactMatch UMLS:C1425510, + HGNC:18429, + HGNC_symbol:PTGR1 ; biolink:category biolink:Gene . OMIM:601275 a owl:Class ; @@ -136200,26 +139935,28 @@ OMIM:601275 a owl:Class ; PMID:8398137, PMID:8661015, PMID:8893821 ; - oboInOwl:hasDbXref UMLS:C1415203 ; oboInOwl:hasExactSynonym "GPM6A", "glycoprotein m6a", "neuronal membrane glycoprotein m6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2823 ; - skos:exactMatch HGNC_symbol:GPM6A ; + skos:exactMatch UMLS:C1415203, + HGNC:4460, + HGNC_symbol:GPM6A ; biolink:category biolink:Gene . OMIM:601276 a owl:Class ; rdfs:label "ZNF177" ; IAO:0000142 PMID:11549323, PMID:8661005 ; - oboInOwl:hasDbXref UMLS:C1421665 ; oboInOwl:hasExactSynonym "ZNF177", "krab zinc finger protein 177", "zinc finger protein 177" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7730 ; - skos:exactMatch HGNC_symbol:ZNF177 ; + skos:exactMatch UMLS:C1421665, + HGNC:12966, + HGNC_symbol:ZNF177 ; biolink:category biolink:Gene . OMIM:601277 a owl:Class ; @@ -136234,12 +139971,12 @@ OMIM:601277 a owl:Class ; PMID:20643494, PMID:20672373, PMID:8845852 ; - oboInOwl:hasDbXref UMLS:C1832550 ; oboInOwl:hasExactSynonym "ARCI4A", "ichthyosis congenita 2b", "ichthyosis, congenital, autosomal recessive 4a", "ichthyosis, lamellar, 2, formerly" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C1832550 ; biolink:category biolink:Disease . OMIM:601278 a owl:Class ; @@ -136248,12 +139985,13 @@ OMIM:601278 a owl:Class ; PMID:16341202, PMID:16632607, PMID:8733123 ; - oboInOwl:hasDbXref UMLS:C1414815 ; oboInOwl:hasExactSynonym "FRG1", "fshd region gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2483 ; - skos:exactMatch HGNC_symbol:FRG1 ; + skos:exactMatch UMLS:C1414815, + HGNC:3954, + HGNC_symbol:FRG1 ; biolink:category biolink:Gene . OMIM:601279 a owl:Class ; @@ -136261,12 +139999,13 @@ OMIM:601279 a owl:Class ; IAO:0000142 PMID:11157784, PMID:15821931, PMID:8733130 ; - oboInOwl:hasDbXref UMLS:C1414027 ; oboInOwl:hasExactSynonym "DGCR6", "digeorge syndrome critical region gene 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8214 ; - skos:exactMatch HGNC_symbol:DGCR6 ; + skos:exactMatch UMLS:C1414027, + HGNC:2846, + HGNC_symbol:DGCR6 ; biolink:category biolink:Gene . OMIM:601280 a owl:Class ; @@ -136284,14 +140023,15 @@ OMIM:601280 a owl:Class ; PMID:9950369 ; RO:0002525 CHR:9606chr13q13.3 ; RO:0003303 OMIM:618479 ; - oboInOwl:hasDbXref UMLS:C1416954 ; oboInOwl:hasExactSynonym "MAB21L1", "cagr1", "mab21, c. elegans, homolog-like 1", "mab21-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4081 ; - skos:exactMatch HGNC_symbol:MAB21L1 ; + skos:exactMatch UMLS:C1416954, + HGNC:6757, + HGNC_symbol:MAB21L1 ; biolink:category biolink:Gene . OMIM:601281 a owl:Class ; @@ -136300,14 +140040,15 @@ OMIM:601281 a owl:Class ; PMID:11809707, PMID:14586460, PMID:8633026 ; - oboInOwl:hasDbXref UMLS:C1419943 ; oboInOwl:hasExactSynonym "SEMA3B", "semaphorin 3b", "semaphorin 5", "semaphorin a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7869 ; - skos:exactMatch HGNC_symbol:SEMA3B ; + skos:exactMatch UMLS:C1419943, + HGNC:10724, + HGNC_symbol:SEMA3B ; biolink:category biolink:Gene . OMIM:601282 a owl:Class ; @@ -136334,14 +140075,15 @@ OMIM:601282 a owl:Class ; PMID:8894687 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:613723 ; - oboInOwl:hasDbXref UMLS:C1418643 ; oboInOwl:hasExactSynonym "PLEC", "pcn", "plec1", "plectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5339 ; - skos:exactMatch HGNC_symbol:PLEC ; + skos:exactMatch UMLS:C1418643, + HGNC:9069, + HGNC_symbol:PLEC ; biolink:category biolink:Gene . OMIM:601284 a owl:Class ; @@ -136377,16 +140119,17 @@ OMIM:601284 a owl:Class ; PMID:9501322 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:600376 ; - oboInOwl:hasDbXref UMLS:C1366767, - UMLS:C1832529, - UMLS:C1838163 ; oboInOwl:hasExactSynonym "ACVRL1", "activin a receptor, iia ii-like 1", "activin a receptor, iia ii-like kinase 1", "activin receptor-like kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94 ; - skos:exactMatch HGNC_symbol:ACVRL1 ; + skos:exactMatch UMLS:C1366767, + UMLS:C1832529, + UMLS:C1838163, + HGNC:175, + HGNC_symbol:ACVRL1 ; biolink:category biolink:Gene . OMIM:601285 a owl:Class ; @@ -136398,13 +140141,14 @@ OMIM:601285 a owl:Class ; PMID:16239144, PMID:8733122, PMID:9927667 ; - oboInOwl:hasDbXref UMLS:C1832527 ; oboInOwl:hasExactSynonym "SEM1", "deleted 1n split-hand/split-foot 1 region", "proteasome 26s subunit sem1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7979 ; - skos:exactMatch HGNC_symbol:SEM1 ; + skos:exactMatch UMLS:C1832527, + HGNC:10845, + HGNC_symbol:SEM1 ; biolink:category biolink:Gene . OMIM:601286 a owl:Class ; @@ -136428,15 +140172,16 @@ OMIM:601288 a owl:Class ; PMID:9144171, PMID:9312143, PMID:9428519 ; - oboInOwl:hasDbXref UMLS:C1421564, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "14-3-3-zeta", "YWHAZ", "brain protein 14-3-3, zeta isoform", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7534 ; - skos:exactMatch HGNC_symbol:YWHAZ ; + skos:exactMatch UMLS:C1421564, + UMLS:C4015968, + HGNC:12855, + HGNC_symbol:YWHAZ ; biolink:category biolink:Gene . OMIM:601289 a owl:Class ; @@ -136447,14 +140192,15 @@ OMIM:601289 a owl:Class ; PMID:8617504, PMID:9144171, PMID:9428519 ; - oboInOwl:hasDbXref UMLS:C1421558 ; oboInOwl:hasExactSynonym "14-3-3-beta", "YWHAB", "brain protein 14-3-3, beta isoform", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7529 ; - skos:exactMatch HGNC_symbol:YWHAB ; + skos:exactMatch UMLS:C1421558, + HGNC:12849, + HGNC_symbol:YWHAB ; biolink:category biolink:Gene . OMIM:601290 a owl:Class ; @@ -136470,13 +140216,14 @@ OMIM:601290 a owl:Class ; PMID:8515476, PMID:9428519, PMID:9659898 ; - oboInOwl:hasDbXref UMLS:C1335813 ; oboInOwl:hasExactSynonym "14-3-3-sigma", "SFN", "stratifin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2810 ; - skos:exactMatch HGNC_symbol:SFN ; + skos:exactMatch UMLS:C1335813, + HGNC:10773, + HGNC_symbol:SFN ; biolink:category biolink:Gene . OMIM:601291 a owl:Class ; @@ -136484,7 +140231,6 @@ OMIM:601291 a owl:Class ; IAO:0000142 PMID:12376738, PMID:8661025, PMID:9125199 ; - oboInOwl:hasDbXref UMLS:C1421347 ; oboInOwl:hasExactSynonym "UGT8", "cerebroside synthase", "udp glycosyltransferase 8", @@ -136492,21 +140238,24 @@ OMIM:601291 a owl:Class ; "uridine diphosphate glycosyltransferase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7368 ; - skos:exactMatch HGNC_symbol:UGT8 ; + skos:exactMatch UMLS:C1421347, + HGNC:12555, + HGNC_symbol:UGT8 ; biolink:category biolink:Gene . OMIM:601292 a owl:Class ; rdfs:label "SULT1A2" ; IAO:0000142 PMID:8661000, PMID:8912648 ; - oboInOwl:hasDbXref UMLS:C1420515 ; oboInOwl:hasExactSynonym "SULT1A2", "phenol sulfotransferase 2", "sulfotransferase family 1a, cytosolic, phenol-preferring, member 2", "sulfotransferase, phenol-preferring 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6799 ; - skos:exactMatch HGNC_symbol:SULT1A2 ; + skos:exactMatch UMLS:C1420515, + HGNC:11454, + HGNC_symbol:SULT1A2 ; biolink:category biolink:Gene . OMIM:601293 a owl:Class ; @@ -136519,13 +140268,14 @@ OMIM:601293 a owl:Class ; PMID:18708578, PMID:22002721, PMID:8661031 ; - oboInOwl:hasDbXref UMLS:C1419384 ; oboInOwl:hasExactSynonym "RHEB", "ras homolog enriched 1n brain", "ras homolog enriched 1n brain 2, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6009 ; - skos:exactMatch HGNC_symbol:RHEB ; + skos:exactMatch UMLS:C1419384, + HGNC:10011, + HGNC_symbol:RHEB ; biolink:category biolink:Gene . OMIM:601294 a owl:Class ; @@ -136546,7 +140296,6 @@ OMIM:601295 a owl:Class ; PMID:9457686 ; RO:0002525 CHR:9606chr13q33.1 ; RO:0003303 OMIM:613291 ; - oboInOwl:hasDbXref UMLS:C1420087 ; oboInOwl:hasExactSynonym "SLC10A2", "apical sodium-dependent bile acid transporter", "apical sodium/bile salt transporter", @@ -136555,7 +140304,9 @@ OMIM:601295 a owl:Class ; "solute carrier family 10 (sodium/bile acid cotransporter family), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6555 ; - skos:exactMatch HGNC_symbol:SLC10A2 ; + skos:exactMatch UMLS:C1420087, + HGNC:10906, + HGNC_symbol:SLC10A2 ; biolink:category biolink:Gene . OMIM:601298 a owl:Class ; @@ -136587,14 +140338,15 @@ OMIM:601299 a owl:Class ; PMID:9730621 ; RO:0002525 CHR:9606chr10q23.2 ; RO:0003303 OMIM:174900 ; - oboInOwl:hasDbXref UMLS:C1332430 ; oboInOwl:hasExactSynonym "BMPR1A", "activin a receptor, iia ii-like kinase 3", "activin receptor-like kinase 3", "bone morphogenetic protein receptor, iia 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:657 ; - skos:exactMatch HGNC_symbol:BMPR1A ; + skos:exactMatch UMLS:C1332430, + HGNC:1076, + HGNC_symbol:BMPR1A ; biolink:category biolink:Gene . OMIM:601300 a owl:Class ; @@ -136607,14 +140359,15 @@ OMIM:601300 a owl:Class ; PMID:8636304, PMID:9501322 ; RO:0002525 CHR:9606chr12q13.13 ; - oboInOwl:hasDbXref UMLS:C1332011 ; oboInOwl:hasExactSynonym "ACVR1B", "activin a receptor, iia 1b", "activin a receptor, iia ii-like kinase 4", "activin receptor-like kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91 ; - skos:exactMatch HGNC_symbol:ACVR1B ; + skos:exactMatch UMLS:C1332011, + HGNC:172, + HGNC_symbol:ACVR1B ; biolink:category biolink:Gene . OMIM:601301 a owl:Class ; @@ -136623,13 +140376,14 @@ OMIM:601301 a owl:Class ; PMID:8978786 ; RO:0002525 CHR:9606chr6p21.2 ; RO:0003303 OMIM:619301 ; - oboInOwl:hasDbXref UMLS:C1418800 ; oboInOwl:hasExactSynonym "PPIL1", "cyclophilin-related gene 1", "peptidyl-prolyl isomerase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51645 ; - skos:exactMatch HGNC_symbol:PPIL1 ; + skos:exactMatch UMLS:C1418800, + HGNC:9260, + HGNC_symbol:PPIL1 ; biolink:category biolink:Gene . OMIM:601302 a owl:Class ; @@ -136646,26 +140400,28 @@ OMIM:601302 a owl:Class ; PMID:20797538, PMID:2558868, PMID:8978785 ; - oboInOwl:hasDbXref UMLS:C1418848 ; oboInOwl:hasExactSynonym "PPP3R1", "calcineurin b, iia 1", "cnb", "protein phosphatase 3, regulatory subunit b, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5534 ; - skos:exactMatch HGNC_symbol:PPP3R1 ; + skos:exactMatch UMLS:C1418848, + HGNC:9317, + HGNC_symbol:PPP3R1 ; biolink:category biolink:Gene . OMIM:601303 a owl:Class ; rdfs:label "CKAP1" ; IAO:0000142 PMID:8978778 ; - oboInOwl:hasDbXref UMLS:C1823247 ; oboInOwl:hasExactSynonym "CKAP1", "ckapi", "cytoskeleton-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1155 ; - skos:exactMatch HGNC_symbol:TBCB ; + skos:exactMatch UMLS:C1823247, + HGNC:1989, + HGNC_symbol:TBCB ; biolink:category biolink:Gene . OMIM:601304 a owl:Class ; @@ -136673,7 +140429,6 @@ OMIM:601304 a owl:Class ; IAO:0000142 PMID:17412961, PMID:2063628, PMID:8978773 ; - oboInOwl:hasDbXref UMLS:C1417724 ; oboInOwl:hasExactSynonym "15.5k", "SNU13", "nhp2-like protein 1", @@ -136682,20 +140437,23 @@ OMIM:601304 a owl:Class ; "u4/u6-15.5k protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4809 ; - skos:exactMatch HGNC_symbol:SNU13 ; + skos:exactMatch UMLS:C1417724, + HGNC:7819, + HGNC_symbol:SNU13 ; biolink:category biolink:Gene . OMIM:601305 a owl:Class ; rdfs:label "HTR5A" ; IAO:0000142 PMID:7988681, PMID:8978771 ; - oboInOwl:hasDbXref UMLS:C1415814 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 5a", "HTR5A", "serotonin 5-ht-5a receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3361 ; - skos:exactMatch HGNC_symbol:HTR5A ; + skos:exactMatch UMLS:C1415814, + HGNC:5300, + HGNC_symbol:HTR5A ; biolink:category biolink:Gene . OMIM:601306 a owl:Class ; @@ -136703,13 +140461,14 @@ OMIM:601306 a owl:Class ; IAO:0000142 PMID:15931393, PMID:2587259, PMID:8978766 ; - oboInOwl:hasDbXref UMLS:C1415497 ; oboInOwl:hasExactSynonym "HCLS1", "hematopoietic cell-specific lyn substrate 1", "hs1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3059 ; - skos:exactMatch HGNC_symbol:HCLS1 ; + skos:exactMatch UMLS:C1415497, + HGNC:4844, + HGNC_symbol:HCLS1 ; biolink:category biolink:Gene . OMIM:601307 a owl:Class ; @@ -136767,7 +140526,6 @@ OMIM:601309 a owl:Class ; PMID:9620294 ; RO:0002525 CHR:9606chr9q22.32 ; RO:0003303 OMIM:610828 ; - oboInOwl:hasDbXref UMLS:C1826732 ; oboInOwl:hasExactSynonym "PTCH1", "patched 1", "patched, drosophila, homolog of, 1", @@ -136775,7 +140533,9 @@ OMIM:601309 a owl:Class ; "ptch" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5727 ; - skos:exactMatch HGNC_symbol:PTCH1 ; + skos:exactMatch UMLS:C1826732, + HGNC:9585, + HGNC_symbol:PTCH1 ; biolink:category biolink:Gene . OMIM:601310 a owl:Class ; @@ -136792,14 +140552,15 @@ OMIM:601310 a owl:Class ; PMID:8274222, PMID:8363569, PMID:8914854 ; - oboInOwl:hasDbXref UMLS:C1413886 ; oboInOwl:hasExactSynonym "CYP4A11", "cyp4aii", "cytochrome p450, subfamily iva, polypeptide 11", "omega-hydroxylase, fatty acid" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1579 ; - skos:exactMatch HGNC_symbol:CYP4A11 ; + skos:exactMatch UMLS:C1413886, + HGNC:2642, + HGNC_symbol:CYP4A11 ; biolink:category biolink:Gene . OMIM:601311 a owl:Class ; @@ -136810,14 +140571,15 @@ OMIM:601311 a owl:Class ; PMID:8650549, PMID:9242919, PMID:9756919 ; - oboInOwl:hasDbXref UMLS:C1420305 ; oboInOwl:hasExactSynonym "SOAT2", "acat2", "acyl-coa:cholesterol acyltransferase 2", "sterol o-acyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8435 ; - skos:exactMatch HGNC_symbol:SOAT2 ; + skos:exactMatch UMLS:C1420305, + HGNC:11178, + HGNC_symbol:SOAT2 ; biolink:category biolink:Gene . OMIM:601312 a owl:Class ; @@ -136936,24 +140698,25 @@ OMIM:601313 a owl:Class ; PMID:9734362 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:173900 ; - oboInOwl:hasDbXref UMLS:C1418599, - UMLS:C3149841, - UMLS:C4016726 ; oboInOwl:hasExactSynonym "PKD1", "pbp", "pkd1 gene", "polycystin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5310 ; - skos:exactMatch HGNC_symbol:PKD1 ; + skos:exactMatch UMLS:C1418599, + UMLS:C3149841, + UMLS:C4016726, + HGNC:9008, + HGNC_symbol:PKD1 ; biolink:category biolink:Gene . OMIM:601315 a owl:Class ; rdfs:label "epithelial basolateral chloride conductance regulator, rabbit, homolog of" ; IAO:0000142 PMID:8643587 ; - oboInOwl:hasDbXref UMLS:C1832477 ; oboInOwl:hasExactSynonym "ebcr", - "epithelial basolateral chloride conductance regulator, rabbit, homolog of" . + "epithelial basolateral chloride conductance regulator, rabbit, homolog of" ; + skos:exactMatch UMLS:C1832477 . OMIM:601317 a owl:Class ; rdfs:label "deafness, autosomal dominant 11" ; @@ -136963,18 +140726,18 @@ OMIM:601317 a owl:Class ; PMID:8776602, PMID:9106521, PMID:9354784 ; - oboInOwl:hasDbXref UMLS:C1832475 ; oboInOwl:hasExactSynonym "DFNA11", "deafness, autosomal dominant 11" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1832475 ; biolink:category biolink:Disease . OMIM:601319 a owl:Class ; rdfs:label "odontomicronychial dysplasia" ; IAO:0000142 PMID:8728698 ; - oboInOwl:hasDbXref UMLS:C1832473 ; oboInOwl:hasExactSynonym "ectodermal dysplasia, nail/tooth iia", - "odontomicronychial dysplasia" . + "odontomicronychial dysplasia" ; + skos:exactMatch UMLS:C1832473 . OMIM:601320 a owl:Class ; IAO:0100001 OMIM:601984 ; @@ -136999,18 +140762,18 @@ OMIM:601321 a owl:Class ; PMID:8740913, PMID:8985499, PMID:9475595 ; - oboInOwl:hasDbXref UMLS:C2931482 ; oboInOwl:hasExactSynonym "NFNS", "neurofibromatosis with noonan phenotype", "neurofibromatosis-noonan syndrome", "noonan-neurofibromatosis syndrome" ; + skos:exactMatch UMLS:C2931482 ; biolink:category biolink:Disease . OMIM:601322 a owl:Class ; rdfs:label "porencephaly, cerebellar hypoplasia, and internal malformations" ; IAO:0000142 PMID:8737647 ; - oboInOwl:hasDbXref UMLS:C1832472 ; - oboInOwl:hasExactSynonym "porencephaly, cerebellar hypoplasia, and internal malformations" . + oboInOwl:hasExactSynonym "porencephaly, cerebellar hypoplasia, and internal malformations" ; + skos:exactMatch UMLS:C1832472 . OMIM:601323 a owl:Class ; rdfs:label "NUCB1" ; @@ -137018,27 +140781,29 @@ OMIM:601323 a owl:Class ; PMID:3890479, PMID:8240349, PMID:8661046 ; - oboInOwl:hasDbXref UMLS:C1417874 ; oboInOwl:hasExactSynonym "NUCB1", "nuc", "nucleobindin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4924 ; - skos:exactMatch HGNC_symbol:NUCB1 ; + skos:exactMatch UMLS:C1417874, + HGNC:8043, + HGNC_symbol:NUCB1 ; biolink:category biolink:Gene . OMIM:601325 a owl:Class ; rdfs:label "CNTN3" ; IAO:0000142 PMID:8108413, PMID:8661054 ; - oboInOwl:hasDbXref UMLS:C1413561 ; oboInOwl:hasExactSynonym "CNTN3", "big1, rat, homolog of", "contactin 3", "plasmacytoma-associated neuronal glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5067 ; - skos:exactMatch HGNC_symbol:CNTN3 ; + skos:exactMatch UMLS:C1413561, + HGNC:2173, + HGNC_symbol:CNTN3 ; biolink:category biolink:Gene . OMIM:601326 a owl:Class ; @@ -137048,14 +140813,15 @@ OMIM:601326 a owl:Class ; PMID:8661061 ; RO:0002525 CHR:9606chr3q26.2 ; RO:0003303 OMIM:619328 ; - oboInOwl:hasDbXref UMLS:C1418194 ; oboInOwl:hasExactSynonym "CLDN11", "claudin 11", "oligodendrocyte transmembrane protein", "oligodendrocyte-specific protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5010 ; - skos:exactMatch HGNC_symbol:CLDN11 ; + skos:exactMatch UMLS:C1418194, + HGNC:8514, + HGNC_symbol:CLDN11 ; biolink:category biolink:Gene . OMIM:601327 a owl:Class ; @@ -137071,9 +140837,6 @@ OMIM:601327 a owl:Class ; PMID:9887383 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:615378 ; - oboInOwl:hasDbXref UMLS:C1419860, - UMLS:C2986382, - UMLS:C3809312 ; oboInOwl:hasExactSynonym "SCN2B", "sodium channel, neuronal iia ii, beta subunit", "sodium channel, voltage-gated, iia ii, beta subunit", @@ -137081,21 +140844,26 @@ OMIM:601327 a owl:Class ; "sodium voltage-gated channel, beta subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6327 ; - skos:exactMatch HGNC_symbol:SCN2B ; + skos:exactMatch UMLS:C1419860, + UMLS:C2986382, + UMLS:C3809312, + HGNC:10589, + HGNC_symbol:SCN2B ; biolink:category biolink:Gene . OMIM:601328 a owl:Class ; rdfs:label "SCNN1D" ; IAO:0000142 PMID:7499195, PMID:8661065 ; - oboInOwl:hasDbXref UMLS:C1419870 ; oboInOwl:hasExactSynonym "SCNN1D", "sodium channel, epithelial 1, delta subunit", "sodium channel, epithelial, delta subunit", "sodium channel, nonvoltage-gated 1, delta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6339 ; - skos:exactMatch HGNC_symbol:SCNN1D ; + skos:exactMatch UMLS:C1419870, + HGNC:10601, + HGNC_symbol:SCNN1D ; biolink:category biolink:Gene . OMIM:601329 a owl:Class ; @@ -137116,14 +140884,15 @@ OMIM:601329 a owl:Class ; PMID:8689688, PMID:8812497, PMID:8941371 ; - oboInOwl:hasDbXref UMLS:C1334342 ; oboInOwl:hasExactSynonym "LIMK1", "lim domain kinase 1", "lim kinase", "limk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3984 ; - skos:exactMatch HGNC_symbol:LIMK1 ; + skos:exactMatch UMLS:C1334342, + HGNC:6613, + HGNC_symbol:LIMK1 ; biolink:category biolink:Gene . OMIM:601330 a owl:Class ; @@ -137137,14 +140906,15 @@ OMIM:601330 a owl:Class ; PMID:8661067 ; RO:0002525 CHR:9606chr12p12.3 ; RO:0003303 OMIM:614665 ; - oboInOwl:hasDbXref UMLS:C1415363 ; oboInOwl:hasExactSynonym "GUCY2C", "guanylate cyclase 2c", "guanylyl cyclase 2c", "heat-stable enterotoxin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2984 ; - skos:exactMatch HGNC_symbol:GUCY2C ; + skos:exactMatch UMLS:C1415363, + HGNC:4688, + HGNC_symbol:GUCY2C ; biolink:category biolink:Gene . OMIM:601332 a owl:Class ; @@ -137155,14 +140925,15 @@ OMIM:601332 a owl:Class ; PMID:16426902, PMID:20498044, PMID:8786128 ; - oboInOwl:hasDbXref UMLS:C1826256 ; oboInOwl:hasExactSynonym "MKX", "iroquois family-related homeodomain protein", "iroquois homeobox-like 1", "mohawk homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283078 ; - skos:exactMatch HGNC_symbol:MKX ; + skos:exactMatch UMLS:C1826256, + HGNC:23729, + HGNC_symbol:MKX ; biolink:category biolink:Gene . OMIM:601333 a owl:Class ; @@ -137171,27 +140942,29 @@ OMIM:601333 a owl:Class ; PMID:12934008, PMID:7490093, PMID:8786132 ; - oboInOwl:hasDbXref UMLS:C0812269 ; oboInOwl:hasExactSynonym "SUPT6H", "chromatin structure regulator, yeast, homolog of", "spt6 homolog, histone chaperone and transcription elongation factor", "suppressor of ty 6, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6830 ; - skos:exactMatch HGNC_symbol:SUPT6H ; + skos:exactMatch UMLS:C0812269, + HGNC:11470, + HGNC_symbol:SUPT6H ; biolink:category biolink:Gene . OMIM:601334 a owl:Class ; rdfs:label "KLC3" ; IAO:0000142 PMID:8786141 ; - oboInOwl:hasDbXref UMLS:C1825717 ; oboInOwl:hasExactSynonym "KLC3", "kinesin light chain 2-like", "kinesin light chain 3", "kns2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147700 ; - skos:exactMatch HGNC_symbol:KLC3 ; + skos:exactMatch UMLS:C1825717, + HGNC:20717, + HGNC_symbol:KLC3 ; biolink:category biolink:Gene . OMIM:601335 a owl:Class ; @@ -137209,7 +140982,6 @@ OMIM:601335 a owl:Class ; PMID:9372971, PMID:9465908, PMID:9618507 ; - oboInOwl:hasDbXref UMLS:C1417008 ; oboInOwl:hasExactSynonym "MAP2K4", "jnk-activated kinase 1", "mapk/erk kinase 4", @@ -137219,7 +140991,9 @@ OMIM:601335 a owl:Class ; "sapk/erk kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6416 ; - skos:exactMatch HGNC_symbol:MAP2K4 ; + skos:exactMatch UMLS:C1417008, + HGNC:6844, + HGNC_symbol:MAP2K4 ; biolink:category biolink:Gene . OMIM:601336 a owl:Class ; @@ -137233,13 +141007,14 @@ OMIM:601336 a owl:Class ; PMID:8786151 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:606056 ; - oboInOwl:hasDbXref UMLS:C1832467 ; oboInOwl:hasExactSynonym "MOGS", "glucosidase 1", "mannosyl-oligosaccharide glycosidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7841 ; - skos:exactMatch HGNC_symbol:MOGS ; + skos:exactMatch UMLS:C1832467, + HGNC:24862, + HGNC_symbol:MOGS ; biolink:category biolink:Gene . OMIM:601337 a owl:Class ; @@ -137251,12 +141026,13 @@ OMIM:601337 a owl:Class ; PMID:26469318, PMID:8289803, PMID:8600444 ; - oboInOwl:hasDbXref UMLS:C1419361 ; oboInOwl:hasExactSynonym "RFX3", "regulatory factor x, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5991 ; - skos:exactMatch HGNC_symbol:RFX3 ; + skos:exactMatch UMLS:C1419361, + HGNC:9984, + HGNC_symbol:RFX3 ; biolink:category biolink:Gene . OMIM:601338 a owl:Class ; @@ -137265,10 +141041,10 @@ OMIM:601338 a owl:Class ; PMID:25056583, PMID:32913013, PMID:8733056 ; - oboInOwl:hasDbXref UMLS:C1832466 ; oboInOwl:hasExactSynonym "CAPOS", "capos syndrome", "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss" ; + skos:exactMatch UMLS:C1832466 ; biolink:category biolink:Disease . OMIM:601339 a owl:Class ; @@ -137283,24 +141059,25 @@ OMIM:601340 a owl:Class ; PMID:8550608, PMID:8661134, PMID:9242442 ; - oboInOwl:hasDbXref UMLS:C1417154 ; oboInOwl:hasExactSynonym "MIA", "cartilage-derived retinoic acid-sensitive protein", "melanoma inhibitory activity protein", "mia sh3 domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8190 ; - skos:exactMatch HGNC_symbol:MIA ; + skos:exactMatch UMLS:C1417154, + HGNC:7076, + HGNC_symbol:MIA ; biolink:category biolink:Gene . OMIM:601341 a owl:Class ; rdfs:label "atrophia maculosa varioliformis cutis, familial" ; IAO:0000142 PMID:3730277, PMID:8169256 ; - oboInOwl:hasDbXref UMLS:C1832465 ; oboInOwl:hasExactSynonym "AMVC", "atrophia maculosa varioliformis cutis, familial", - "varioliform macular atrophy of the skin" . + "varioliform macular atrophy of the skin" ; + skos:exactMatch UMLS:C1832465 . OMIM:601342 a owl:Class ; rdfs:label "CSE1L" ; @@ -137313,7 +141090,6 @@ OMIM:601342 a owl:Class ; PMID:9323123, PMID:9323134, PMID:9497270 ; - oboInOwl:hasDbXref UMLS:C1413749 ; oboInOwl:hasExactSynonym "CSE1L", "cellular apoptosis susceptibility", "chromosome segregation 1-like", @@ -137321,7 +141097,9 @@ OMIM:601342 a owl:Class ; "cse1, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1434 ; - skos:exactMatch HGNC_symbol:CSE1L ; + skos:exactMatch UMLS:C1413749, + HGNC:2431, + HGNC_symbol:CSE1L ; biolink:category biolink:Gene . OMIM:601343 a owl:Class ; @@ -137331,15 +141109,15 @@ OMIM:601343 a owl:Class ; OMIM:601344 a owl:Class ; rdfs:label "spinal dysplasia, anhalt iia" ; IAO:0000142 PMID:7747794 ; - oboInOwl:hasDbXref UMLS:C1832464 ; - oboInOwl:hasExactSynonym "spinal dysplasia, anhalt iia" . + oboInOwl:hasExactSynonym "spinal dysplasia, anhalt iia" ; + skos:exactMatch UMLS:C1832464 . OMIM:601345 a owl:Class ; rdfs:label "ectodermal dysplasia with natal teeth, turnpenny iia" ; IAO:0000142 PMID:8574423 ; - oboInOwl:hasDbXref UMLS:C1832444 ; oboInOwl:hasExactSynonym "ectodermal dysplasia with natal teeth, turnpenny iia", - "ectodermal dysplasia, hair/tooth iia" . + "ectodermal dysplasia, hair/tooth iia" ; + skos:exactMatch UMLS:C1832444 . OMIM:601346 a owl:Class ; rdfs:label "martinez-frias syndrome" ; @@ -137347,23 +141125,23 @@ OMIM:601346 a owl:Class ; PMID:1488984, PMID:20148032, PMID:9677074 ; - oboInOwl:hasDbXref UMLS:C1832443 ; oboInOwl:hasExactSynonym "martinez-frias syndrome", "pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula" ; + skos:exactMatch UMLS:C1832443 ; biolink:category biolink:Disease . OMIM:601347 a owl:Class ; rdfs:label "myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay" ; IAO:0000142 PMID:7917125 ; - oboInOwl:hasDbXref UMLS:C1832442 ; - oboInOwl:hasExactSynonym "myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay" . + oboInOwl:hasExactSynonym "myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay" ; + skos:exactMatch UMLS:C1832442 . OMIM:601348 a owl:Class ; rdfs:label "ectrodactyly of lower limbs, congenital heart defect, and micrognathia" ; IAO:0000142 PMID:8418662, PMID:8867653 ; - oboInOwl:hasDbXref UMLS:C1832441 ; - oboInOwl:hasExactSynonym "ectrodactyly of lower limbs, congenital heart defect, and micrognathia" . + oboInOwl:hasExactSynonym "ectrodactyly of lower limbs, congenital heart defect, and micrognathia" ; + skos:exactMatch UMLS:C1832441 . OMIM:601349 a owl:Class ; rdfs:label "microphthalmia, syndromic 8" ; @@ -137372,31 +141150,31 @@ OMIM:601349 a owl:Class ; PMID:8867653, PMID:8867664 ; RO:0002525 CHR:9606chr6q21 ; - oboInOwl:hasDbXref UMLS:C1832440 ; oboInOwl:hasExactSynonym "MCOPS8", "microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism", "microphthalmia, syndromic 8" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C1832440 ; biolink:category biolink:Disease . OMIM:601350 a owl:Class ; rdfs:label "short stature syndrome, brussels iia" ; IAO:0000142 PMID:8867654 ; - oboInOwl:hasDbXref UMLS:C1832439 ; - oboInOwl:hasExactSynonym "short stature syndrome, brussels iia" . + oboInOwl:hasExactSynonym "short stature syndrome, brussels iia" ; + skos:exactMatch UMLS:C1832439 . OMIM:601351 a owl:Class ; rdfs:label "growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" ; IAO:0000142 PMID:4730943, PMID:8867655 ; - oboInOwl:hasDbXref UMLS:C1832438 ; - oboInOwl:hasExactSynonym "growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" . + oboInOwl:hasExactSynonym "growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" ; + skos:exactMatch UMLS:C1832438 . OMIM:601352 a owl:Class ; rdfs:label "mental retardation, microcephaly, epilepsy, and coarse face" ; IAO:0000142 PMID:8867658 ; - oboInOwl:hasDbXref UMLS:C1832437 ; - oboInOwl:hasExactSynonym "mental retardation, microcephaly, epilepsy, and coarse face" . + oboInOwl:hasExactSynonym "mental retardation, microcephaly, epilepsy, and coarse face" ; + skos:exactMatch UMLS:C1832437 . OMIM:601353 a owl:Class ; rdfs:label "brachycephaly, deafness, cataract, microstomia, and mental retardation" ; @@ -137407,9 +141185,9 @@ OMIM:601353 a owl:Class ; PMID:6432966, PMID:6587014, PMID:7508318 ; - oboInOwl:hasDbXref UMLS:C0795941 ; oboInOwl:hasExactSynonym "brachycephaly, deafness, cataract, microstomia, and mental retardation", "fine-lubinsky syndrome" ; + skos:exactMatch UMLS:C0795941 ; biolink:category biolink:Disease . OMIM:601354 a owl:Class ; @@ -137419,15 +141197,15 @@ OMIM:601354 a owl:Class ; OMIM:601355 a owl:Class ; rdfs:label "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" ; IAO:0000142 PMID:8723562 ; - oboInOwl:hasDbXref UMLS:C1832436 ; - oboInOwl:hasExactSynonym "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" . + oboInOwl:hasExactSynonym "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" ; + skos:exactMatch UMLS:C1832436 . OMIM:601356 a owl:Class ; rdfs:label "lethal short-limb skeletal dysplasia, al gazali iia" ; IAO:0000142 PMID:21567921, PMID:8723566 ; - oboInOwl:hasDbXref UMLS:C1832435 ; oboInOwl:hasExactSynonym "lethal short-limb skeletal dysplasia, al gazali iia" ; + skos:exactMatch UMLS:C1832435 ; biolink:category biolink:Disease . OMIM:601357 a owl:Class ; @@ -137436,10 +141214,10 @@ OMIM:601357 a owl:Class ; PMID:19938097, PMID:7981864, PMID:8723568 ; - oboInOwl:hasDbXref UMLS:C1832434 ; oboInOwl:hasExactSynonym "ACLH", "brachial amelia, cleft lip, and holoprosencephaly", "brachial amelia, forebrain defects, and facial clefts" ; + skos:exactMatch UMLS:C1832434 ; biolink:category biolink:Disease . OMIM:601359 a owl:Class ; @@ -137452,11 +141230,11 @@ OMIM:601360 a owl:Class ; PMID:31761294, PMID:31965066, PMID:7625439 ; - oboInOwl:hasDbXref UMLS:C1832432, - ORPHA:1027 ; oboInOwl:hasExactSynonym "PAPPAS", "amelia, autosomal recessive", "amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" ; + skos:exactMatch UMLS:C1832432, + ORPHA:1027 ; biolink:category biolink:Disease . OMIM:601361 a owl:Class ; @@ -137464,13 +141242,14 @@ OMIM:601361 a owl:Class ; IAO:0000142 PMID:3201241, PMID:8670277, PMID:8679252 ; - oboInOwl:hasDbXref UMLS:C1333665 ; oboInOwl:hasExactSynonym "GDF10", "bone morphogenetic protein 3b", "growth/differentiation factor 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2662 ; - skos:exactMatch HGNC_symbol:GDF10 ; + skos:exactMatch UMLS:C1333665, + HGNC:4215, + HGNC_symbol:GDF10 ; biolink:category biolink:Gene . OMIM:601364 a owl:Class ; @@ -137484,7 +141263,6 @@ OMIM:601364 a owl:Class ; PMID:8673923, PMID:9615235, PMID:9737784 ; - oboInOwl:hasDbXref UMLS:C1332728 ; oboInOwl:hasExactSynonym "CDH13", "cadherin 13", "cadherin, heart", @@ -137492,7 +141270,9 @@ OMIM:601364 a owl:Class ; "t-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1012 ; - skos:exactMatch HGNC_symbol:CDH13 ; + skos:exactMatch UMLS:C1332728, + HGNC:1753, + HGNC_symbol:CDH13 ; biolink:category biolink:Gene . OMIM:601365 a owl:Class ; @@ -137521,13 +141301,14 @@ OMIM:601365 a owl:Class ; PMID:9298901 ; RO:0002525 CHR:9606chr1p36.33 ; RO:0003303 OMIM:616331 ; - oboInOwl:hasDbXref UMLS:C1414199 ; oboInOwl:hasExactSynonym "DVL1", "dishevelled 1", "dsh, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1855 ; - skos:exactMatch HGNC_symbol:DVL1 ; + skos:exactMatch UMLS:C1414199, + HGNC:3084, + HGNC_symbol:DVL1 ; biolink:category biolink:Gene . OMIM:601366 a owl:Class ; @@ -137558,8 +141339,6 @@ OMIM:601366 a owl:Class ; PMID:9820171 ; RO:0002525 CHR:9606chr18q21.1 ; RO:0003303 OMIM:619656 ; - oboInOwl:hasDbXref UMLS:C1334468, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "SMAD2", "madr2", "mothers against decapentaplegic, drosophila, homolog of, 2", @@ -137567,7 +141346,10 @@ OMIM:601366 a owl:Class ; "smad family member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4087 ; - skos:exactMatch HGNC_symbol:SMAD2 ; + skos:exactMatch UMLS:C1334468, + UMLS:C2986382, + HGNC:6768, + HGNC_symbol:SMAD2 ; biolink:category biolink:Gene . OMIM:601368 a owl:Class ; @@ -137579,35 +141361,36 @@ OMIM:601368 a owl:Class ; PMID:9344861 ; RO:0002525 CHR:9606chr3q27.1 ; RO:0003303 OMIM:616894 ; - oboInOwl:hasDbXref UMLS:C1414202 ; oboInOwl:hasExactSynonym "DVL3", "dishevelled 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1857 ; - skos:exactMatch HGNC_symbol:DVL3 ; + skos:exactMatch UMLS:C1414202, + HGNC:3087, + HGNC_symbol:DVL3 ; biolink:category biolink:Gene . OMIM:601370 a owl:Class ; rdfs:label "holoprosencephaly, semilobar, with craniosynostosis" ; IAO:0000142 PMID:8291548 ; - oboInOwl:hasDbXref UMLS:C1832424 ; oboInOwl:hasExactSynonym "genoa syndrome", - "holoprosencephaly, semilobar, with craniosynostosis" . + "holoprosencephaly, semilobar, with craniosynostosis" ; + skos:exactMatch UMLS:C1832424 . OMIM:601371 a owl:Class ; rdfs:label "cataract, age-related nuclear" ; IAO:0000142 PMID:16788130, PMID:17386279, PMID:8291558 ; - oboInOwl:hasDbXref UMLS:C1832423 ; oboInOwl:hasExactSynonym "cataract, age-related nuclear", - "nuclear sclerosis of the lens" . + "nuclear sclerosis of the lens" ; + skos:exactMatch UMLS:C1832423 . OMIM:601372 a owl:Class ; rdfs:label "chorea, remitting, with nystagmus and cataract" ; IAO:0000142 PMID:8291559 ; - oboInOwl:hasDbXref UMLS:C1832422 ; - oboInOwl:hasExactSynonym "chorea, remitting, with nystagmus and cataract" . + oboInOwl:hasExactSynonym "chorea, remitting, with nystagmus and cataract" ; + skos:exactMatch UMLS:C1832422 . OMIM:601373 a owl:Class ; rdfs:label "CCR5" ; @@ -137702,7 +141485,14 @@ OMIM:601373 a owl:Class ; PMID:9836644 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:610379 ; - oboInOwl:hasDbXref UMLS:C1332700, + oboInOwl:hasExactSynonym "CCR5", + "cc chemokine receptor 5", + "chemokine, cc motif, receptor 5", + "ckr5", + "cmkbr5" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:1234 ; + skos:exactMatch UMLS:C1332700, UMLS:C1835867, UMLS:C1836031, UMLS:C1836230, @@ -137712,34 +141502,28 @@ OMIM:601373 a owl:Class ; UMLS:C4016729, UMLS:C4016730, UMLS:C4016731, - UMLS:C4017844 ; - oboInOwl:hasExactSynonym "CCR5", - "cc chemokine receptor 5", - "chemokine, cc motif, receptor 5", - "ckr5", - "cmkbr5" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:1234 ; - skos:exactMatch HGNC_symbol:CCR5 ; + UMLS:C4017844, + HGNC:1606, + HGNC_symbol:CCR5 ; biolink:category biolink:Gene . OMIM:601374 a owl:Class ; rdfs:label "aprosencephaly and cerebellar dysgenesis" ; IAO:0000142 PMID:8826432 ; - oboInOwl:hasDbXref UMLS:C1832412 ; - oboInOwl:hasExactSynonym "aprosencephaly and cerebellar dysgenesis" . + oboInOwl:hasExactSynonym "aprosencephaly and cerebellar dysgenesis" ; + skos:exactMatch UMLS:C1832412 . OMIM:601375 a owl:Class ; rdfs:label "ectodermal dysplasia, hidrotic, christianson-fourie iia" ; IAO:0000142 PMID:8826433 ; - oboInOwl:hasDbXref UMLS:C1832411 ; - oboInOwl:hasExactSynonym "ectodermal dysplasia, hidrotic, christianson-fourie iia" . + oboInOwl:hasExactSynonym "ectodermal dysplasia, hidrotic, christianson-fourie iia" ; + skos:exactMatch UMLS:C1832411 . OMIM:601376 a owl:Class ; rdfs:label "chondrodysplasia, lethal, with long bone angulation and mixed bone density" ; IAO:0000142 PMID:8818449 ; - oboInOwl:hasDbXref UMLS:C1832410 ; - oboInOwl:hasExactSynonym "chondrodysplasia, lethal, with long bone angulation and mixed bone density" . + oboInOwl:hasExactSynonym "chondrodysplasia, lethal, with long bone angulation and mixed bone density" ; + skos:exactMatch UMLS:C1832410 . OMIM:601377 a owl:Class ; IAO:0100001 OMIM:218340 ; @@ -137756,8 +141540,8 @@ OMIM:601379 a owl:Class ; PMID:342696, PMID:8281273, PMID:8723067 ; - oboInOwl:hasDbXref UMLS:C1832408 ; - oboInOwl:hasExactSynonym "hunter-mcalpine craniosynostosis syndrome" . + oboInOwl:hasExactSynonym "hunter-mcalpine craniosynostosis syndrome" ; + skos:exactMatch UMLS:C1832408 . OMIM:601380 a owl:Class ; rdfs:label "EFNA4" ; @@ -137765,7 +141549,6 @@ OMIM:601380 a owl:Class ; PMID:7838529, PMID:8660976, PMID:9465306 ; - oboInOwl:hasDbXref UMLS:C1414303 ; oboInOwl:hasExactSynonym "EFNA4", "efl4", "eph-related receptor tyrosine kinase ligand 4", @@ -137773,7 +141556,9 @@ OMIM:601380 a owl:Class ; "ligand of eph-related kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1945 ; - skos:exactMatch HGNC_symbol:EFNA4 ; + skos:exactMatch UMLS:C1414303, + HGNC:3224, + HGNC_symbol:EFNA4 ; biolink:category biolink:Gene . OMIM:601381 a owl:Class ; @@ -137785,7 +141570,6 @@ OMIM:601381 a owl:Class ; PMID:7973638, PMID:8660976, PMID:9465306 ; - oboInOwl:hasDbXref UMLS:C1414302 ; oboInOwl:hasExactSynonym "EFNA3", "efl2", "ehk1 ligand", @@ -137794,7 +141578,9 @@ OMIM:601381 a owl:Class ; "ligand of eph-related kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1944 ; - skos:exactMatch HGNC_symbol:EFNA3 ; + skos:exactMatch UMLS:C1414302, + HGNC:3223, + HGNC_symbol:EFNA3 ; biolink:category biolink:Gene . OMIM:601383 a owl:Class ; @@ -137803,27 +141589,29 @@ OMIM:601383 a owl:Class ; PMID:15671159, PMID:8812490, PMID:9268644 ; - oboInOwl:hasDbXref UMLS:C1412496 ; oboInOwl:hasExactSynonym "AQP6", "aquaporin 2-like, kidney specific", "aquaporin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:363 ; - skos:exactMatch HGNC_symbol:AQP6 ; + skos:exactMatch UMLS:C1412496, + HGNC:639, + HGNC_symbol:AQP6 ; biolink:category biolink:Gene . OMIM:601384 a owl:Class ; rdfs:label "LY6E" ; IAO:0000142 PMID:8650192, PMID:9551972 ; - oboInOwl:hasDbXref UMLS:C1334353 ; oboInOwl:hasExactSynonym "LY6E", "lymphocyte antigen 6 complex, locus e", "retinoic acid-induced gene e", "thymic shared antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4061 ; - skos:exactMatch HGNC_symbol:LY6E ; + skos:exactMatch UMLS:C1334353, + HGNC:6727, + HGNC_symbol:LY6E ; biolink:category biolink:Gene . OMIM:601385 a owl:Class ; @@ -137838,7 +141626,6 @@ OMIM:601385 a owl:Class ; PMID:8661104 ; RO:0002525 CHR:9606chr8p22 ; RO:0003303 OMIM:611093 ; - oboInOwl:hasDbXref UMLS:C1428945 ; oboInOwl:hasExactSynonym "TUSC3", "d8s1992", "n33", @@ -137846,7 +141633,9 @@ OMIM:601385 a owl:Class ; "tumor suppressor candidate 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7991 ; - skos:exactMatch HGNC_symbol:TUSC3 ; + skos:exactMatch UMLS:C1428945, + HGNC:30242, + HGNC_symbol:TUSC3 ; biolink:category biolink:Gene . OMIM:601387 a owl:Class ; @@ -137864,13 +141653,14 @@ OMIM:601387 a owl:Class ; PMID:9019400, PMID:9241264, PMID:9241265 ; - oboInOwl:hasDbXref UMLS:C1336678 ; oboInOwl:hasExactSynonym "TSG101", "tumor susceptibility gene 101", "vacuolar protein sorting 23, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7251 ; - skos:exactMatch HGNC_symbol:TSG101 ; + skos:exactMatch UMLS:C1336678, + HGNC:15971, + HGNC_symbol:TSG101 ; biolink:category biolink:Gene . OMIM:601388 a owl:Class ; @@ -137879,25 +141669,24 @@ OMIM:601388 a owl:Class ; PMID:8817351, PMID:8989248, PMID:9259273 ; - oboInOwl:hasDbXref UMLS:C1832392 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 12", "T1D12", "diabetes mellitus, insulin-dependent, 12", "insulin-dependent diabetes mellitus 12" ; + skos:exactMatch UMLS:C1832392 ; biolink:category biolink:Disease . OMIM:601389 a owl:Class ; rdfs:label "cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction" ; IAO:0000142 PMID:8456850 ; - oboInOwl:hasDbXref UMLS:C1832391 ; - oboInOwl:hasExactSynonym "cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction" . + oboInOwl:hasExactSynonym "cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction" ; + skos:exactMatch UMLS:C1832391 . OMIM:601391 a owl:Class ; rdfs:label "CCL13" ; IAO:0000142 PMID:18219197, PMID:8661057, PMID:9195948 ; - oboInOwl:hasDbXref UMLS:C1332677 ; oboInOwl:hasExactSynonym "CCL13", "chemokine, cc motif, ligand 13", "monocyte chemotactic protein 4", @@ -137905,14 +141694,15 @@ OMIM:601391 a owl:Class ; "small inducible cytokine subfamily a, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6357 ; - skos:exactMatch HGNC_symbol:CCL13 ; + skos:exactMatch UMLS:C1332677, + HGNC:10611, + HGNC_symbol:CCL13 ; biolink:category biolink:Gene . OMIM:601392 a owl:Class ; rdfs:label "CCL14" ; IAO:0000142 PMID:8551235, PMID:8661057 ; - oboInOwl:hasDbXref UMLS:C1332678 ; oboInOwl:hasExactSynonym "CCL14", "chemokine, cc motif, ligand 14", "hemofiltrate cc chemokine 1", @@ -137920,7 +141710,9 @@ OMIM:601392 a owl:Class ; "small inducible cytokine subfamily a, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6358 ; - skos:exactMatch HGNC_symbol:CCL14 ; + skos:exactMatch UMLS:C1332678, + HGNC:10612, + HGNC_symbol:CCL14 ; biolink:category biolink:Gene . OMIM:601393 a owl:Class ; @@ -137929,7 +141721,6 @@ OMIM:601393 a owl:Class ; PMID:9346309, PMID:9548457, PMID:9600961 ; - oboInOwl:hasDbXref UMLS:C1332679 ; oboInOwl:hasExactSynonym "CCL15", "chemokine, cc motif, ligand 15", "hcc2", @@ -137939,7 +141730,9 @@ OMIM:601393 a owl:Class ; "small inducible cytokine subfamily a, member 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6359 ; - skos:exactMatch HGNC_symbol:CCL15 ; + skos:exactMatch UMLS:C1332679, + HGNC:10613, + HGNC_symbol:CCL15 ; biolink:category biolink:Gene . OMIM:601394 a owl:Class ; @@ -137948,7 +141741,6 @@ OMIM:601394 a owl:Class ; PMID:9545580, PMID:9596672, PMID:9642106 ; - oboInOwl:hasDbXref UMLS:C1419876 ; oboInOwl:hasExactSynonym "CCL16", "chemokine, cc motif, ligand 16", "hemofiltrate cc chemokine 4", @@ -137958,7 +141750,9 @@ OMIM:601394 a owl:Class ; "small inducible cytokine subfamily a, member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6360 ; - skos:exactMatch HGNC_symbol:CCL16 ; + skos:exactMatch UMLS:C1419876, + HGNC:10614, + HGNC_symbol:CCL16 ; biolink:category biolink:Gene . OMIM:601395 a owl:Class ; @@ -137980,7 +141774,6 @@ OMIM:601395 a owl:Class ; PMID:8661057 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:609423 ; - oboInOwl:hasDbXref UMLS:C1332689 ; oboInOwl:hasExactSynonym "CCL3L1", "chemokine, cc motif, ligand 3-like 1", "g0s19-2", @@ -137990,7 +141783,9 @@ OMIM:601395 a owl:Class ; "small inducible cytokine a3-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6349 ; - skos:exactMatch HGNC_symbol:CCL3L1 ; + skos:exactMatch UMLS:C1332689, + HGNC:10628, + HGNC_symbol:CCL3L1 ; biolink:category biolink:Gene . OMIM:601396 a owl:Class ; @@ -137998,12 +141793,13 @@ OMIM:601396 a owl:Class ; IAO:0000142 PMID:12160744, PMID:8661156, PMID:9536085 ; - oboInOwl:hasDbXref UMLS:C1421519 ; oboInOwl:hasExactSynonym "WNT8B", "wingless-type mmtv integration site family, member 8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7479 ; - skos:exactMatch HGNC_symbol:WNT8B ; + skos:exactMatch UMLS:C1421519, + HGNC:12789, + HGNC_symbol:WNT8B ; biolink:category biolink:Gene . OMIM:601397 a owl:Class ; @@ -138024,16 +141820,17 @@ OMIM:601397 a owl:Class ; PMID:8963900 ; RO:0002525 CHR:9606chr6q27 ; RO:0003303 OMIM:182940 ; - oboInOwl:hasDbXref UMLS:C1420562, - UMLS:C3810343, - UMLS:C3891448 ; oboInOwl:hasExactSynonym "TBXT", "t brachyury, mouse, homolog of", "t-box transcription factor t", "transcription factor t" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6862 ; - skos:exactMatch HGNC_symbol:TBXT ; + skos:exactMatch UMLS:C1420562, + UMLS:C3810343, + UMLS:C3891448, + HGNC:11515, + HGNC_symbol:TBXT ; biolink:category biolink:Gene . OMIM:601398 a owl:Class ; @@ -138047,13 +141844,14 @@ OMIM:601398 a owl:Class ; PMID:8637916, PMID:8702615, PMID:8919691 ; - oboInOwl:hasDbXref UMLS:C1421446 ; oboInOwl:hasExactSynonym "VEGFB", "vascular endothelial growth factor B", "vascular endothelial growth factor-related factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7423 ; - skos:exactMatch HGNC_symbol:VEGFB ; + skos:exactMatch UMLS:C1421446, + HGNC:12681, + HGNC_symbol:VEGFB ; biolink:category biolink:Gene . OMIM:601400 a owl:Class ; @@ -138063,26 +141861,28 @@ OMIM:601400 a owl:Class ; OMIM:601401 a owl:Class ; rdfs:label "MLF2" ; IAO:0000142 PMID:8661158 ; - oboInOwl:hasDbXref UMLS:C1417189 ; oboInOwl:hasExactSynonym "MLF2", "myelodysplasia-myeloid leukemia factor 2", "myeloid leukemia factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8079 ; - skos:exactMatch HGNC_symbol:MLF2 ; + skos:exactMatch UMLS:C1417189, + HGNC:7126, + HGNC_symbol:MLF2 ; biolink:category biolink:Gene . OMIM:601402 a owl:Class ; rdfs:label "MLF1" ; IAO:0000142 PMID:12354791, PMID:8570204 ; - oboInOwl:hasDbXref UMLS:C1417188 ; oboInOwl:hasExactSynonym "MLF1", "myelodysplasia-myeloid leukemia factor 1", "myeloid leukemia factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4291 ; - skos:exactMatch HGNC_symbol:MLF1 ; + skos:exactMatch UMLS:C1417188, + HGNC:7125, + HGNC_symbol:MLF1 ; biolink:category biolink:Gene . OMIM:601403 a owl:Class ; @@ -138095,7 +141895,6 @@ OMIM:601403 a owl:Class ; PMID:8661160, PMID:9548247, PMID:9548255 ; - oboInOwl:hasDbXref UMLS:C1333245 ; oboInOwl:hasExactSynonym "DOCK1", "ced5, c. elegans, homolog of", "dedicator of cytokinesis 1", @@ -138103,7 +141902,9 @@ OMIM:601403 a owl:Class ; "downstream of crk, 180-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1793 ; - skos:exactMatch HGNC_symbol:DOCK1 ; + skos:exactMatch UMLS:C1333245, + HGNC:2987, + HGNC_symbol:DOCK1 ; biolink:category biolink:Gene . OMIM:601404 a owl:Class ; @@ -138115,13 +141916,14 @@ OMIM:601404 a owl:Class ; PMID:8661159 ; RO:0002525 CHR:9606chr14q32.11 ; RO:0003303 OMIM:617217 ; - oboInOwl:hasDbXref UMLS:C1333696 ; oboInOwl:hasExactSynonym "GPR68", "g protein-coupled receptor 68", "ovarian cancer g protein-coupled receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8111 ; - skos:exactMatch HGNC_symbol:GPR68 ; + skos:exactMatch UMLS:C1333696, + HGNC:4519, + HGNC_symbol:GPR68 ; biolink:category biolink:Gene . OMIM:601405 a owl:Class ; @@ -138134,13 +141936,14 @@ OMIM:601405 a owl:Class ; PMID:8635596 ; RO:0002525 CHR:9606chr1p36.21 ; RO:0003303 OMIM:167800 ; - oboInOwl:hasDbXref UMLS:C1413808 ; oboInOwl:hasExactSynonym "CTRC", "caldecrin", "chymotrypsin c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11330 ; - skos:exactMatch HGNC_symbol:CTRC ; + skos:exactMatch UMLS:C1413808, + HGNC:2523, + HGNC_symbol:CTRC ; biolink:category biolink:Gene . OMIM:601406 a owl:Class ; @@ -138148,13 +141951,14 @@ OMIM:601406 a owl:Class ; IAO:0000142 PMID:8605326, PMID:9931421 ; RO:0002525 CHR:9606chr12q24.31 ; - oboInOwl:hasDbXref UMLS:C1332400 ; oboInOwl:hasExactSynonym "BCL7A", "b-cell cll/lymphoma 7", "b-cell cll/lymphoma 7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:605 ; - skos:exactMatch HGNC_symbol:BCL7A ; + skos:exactMatch UMLS:C1332400, + HGNC:1004, + HGNC_symbol:BCL7A ; biolink:category biolink:Gene . OMIM:601408 a owl:Class ; @@ -138178,8 +141982,6 @@ OMIM:601408 a owl:Class ; PMID:9731070 ; RO:0002525 CHR:9606chr8p11.21 ; RO:0003303 OMIM:616268 ; - oboInOwl:hasDbXref UMLS:C1421709, - UMLS:C4225396 ; oboInOwl:hasExactSynonym "KAT6A", "histone acetyltransferase myst3", "lysine acetyltransferase 6a", @@ -138189,7 +141991,10 @@ OMIM:601408 a owl:Class ; "zinc finger protein 220" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7994 ; - skos:exactMatch HGNC_symbol:KAT6A ; + skos:exactMatch UMLS:C1421709, + UMLS:C4225396, + HGNC:13013, + HGNC_symbol:KAT6A ; biolink:category biolink:Gene . OMIM:601409 a owl:Class ; @@ -138222,8 +142027,6 @@ OMIM:601409 a owl:Class ; PMID:9388189 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:619103 ; - oboInOwl:hasDbXref UMLS:C1333931, - UMLS:C5436821 ; oboInOwl:hasExactSynonym "KAT5", "esa1, s. cerevisiae, homolog of", "hiv-1 tat-interacting protein", @@ -138232,7 +142035,10 @@ OMIM:601409 a owl:Class ; "tat-interacting protein, 60-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10524 ; - skos:exactMatch HGNC_symbol:KAT5 ; + skos:exactMatch UMLS:C1333931, + UMLS:C5436821, + HGNC:5275, + HGNC_symbol:KAT5 ; biolink:category biolink:Gene . OMIM:601411 a owl:Class ; @@ -138258,12 +142064,13 @@ OMIM:601411 a owl:Class ; PMID:9832045 ; RO:0002525 CHR:9606chr5q33.2-q33.3 ; RO:0003303 OMIM:601287 ; - oboInOwl:hasDbXref UMLS:C1420007 ; oboInOwl:hasExactSynonym "SGCD", "sarcoglycan, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6444 ; - skos:exactMatch HGNC_symbol:SGCD ; + skos:exactMatch UMLS:C1420007, + HGNC:10807, + HGNC_symbol:SGCD ; biolink:category biolink:Gene . OMIM:601413 a owl:Class ; @@ -138281,14 +142088,15 @@ OMIM:601413 a owl:Class ; PMID:8770868, PMID:9723885, PMID:9837913 ; - oboInOwl:hasDbXref UMLS:C1414052 ; oboInOwl:hasExactSynonym "DIO2", "d2", "deiodinase, iodothyronine, iia 2", "thyroxine deiodinase, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1734 ; - skos:exactMatch HGNC_symbol:DIO2 ; + skos:exactMatch UMLS:C1414052, + HGNC:2884, + HGNC_symbol:DIO2 ; biolink:category biolink:Gene . OMIM:601416 a owl:Class ; @@ -138300,7 +142108,6 @@ OMIM:601416 a owl:Class ; PMID:9205114 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:619693 ; - oboInOwl:hasDbXref UMLS:C1415558 ; oboInOwl:hasExactSynonym "SLC39A7", "d6s2244e", "ke4, mouse, homolog of", @@ -138308,7 +142115,9 @@ OMIM:601416 a owl:Class ; "zrt- and irt-like protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7922 ; - skos:exactMatch HGNC_symbol:SLC39A7 ; + skos:exactMatch UMLS:C1415558, + HGNC:4927, + HGNC_symbol:SLC39A7 ; biolink:category biolink:Gene . OMIM:601417 a owl:Class ; @@ -138317,7 +142126,6 @@ OMIM:601417 a owl:Class ; PMID:8812499, PMID:9205114, PMID:9712896 ; - oboInOwl:hasDbXref UMLS:C1414513 ; oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase 8", "3-oxoacyl-acyl carrier protein reductase, e. coli, homolog of", "HSD17B8", @@ -138328,20 +142136,23 @@ OMIM:601417 a owl:Class ; "ke6, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7923 ; - skos:exactMatch HGNC_symbol:HSD17B8 ; + skos:exactMatch UMLS:C1414513, + HGNC:3554, + HGNC_symbol:HSD17B8 ; biolink:category biolink:Gene . OMIM:601418 a owl:Class ; rdfs:label "RRBP1" ; IAO:0000142 PMID:7686155, PMID:8812507 ; - oboInOwl:hasDbXref UMLS:C1419757 ; oboInOwl:hasExactSynonym "RRBP1", "extracellular matrix glycoprotein es/130, chicken, homolog of", "ribosome binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6238 ; - skos:exactMatch HGNC_symbol:RRBP1 ; + skos:exactMatch UMLS:C1419757, + HGNC:10448, + HGNC_symbol:RRBP1 ; biolink:category biolink:Gene . OMIM:601420 a owl:Class ; @@ -138349,8 +142160,8 @@ OMIM:601420 a owl:Class ; IAO:0000142 PMID:2231655, PMID:3367355, PMID:8828990 ; - oboInOwl:hasDbXref UMLS:C1832369 ; - oboInOwl:hasExactSynonym "microcephaly, corpus callosum dysgenesis, and cleft lip/palate" . + oboInOwl:hasExactSynonym "microcephaly, corpus callosum dysgenesis, and cleft lip/palate" ; + skos:exactMatch UMLS:C1832369 . OMIM:601421 a owl:Class ; rdfs:label "KARS1" ; @@ -138378,26 +142189,28 @@ OMIM:601421 a owl:Class ; PMID:9112970 ; RO:0002525 CHR:9606chr16q23.1 ; RO:0003303 OMIM:619147 ; - oboInOwl:hasDbXref UMLS:C1416540 ; oboInOwl:hasExactSynonym "KARS1", "kars", "krs", "lysyl-trna synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3735 ; - skos:exactMatch HGNC_symbol:KARS1 ; + skos:exactMatch UMLS:C1416540, + HGNC:6215, + HGNC_symbol:KARS1 ; biolink:category biolink:Gene . OMIM:601422 a owl:Class ; rdfs:label "LUZP1" ; IAO:0000142 PMID:8812416 ; - oboInOwl:hasDbXref UMLS:C1423111 ; oboInOwl:hasExactSynonym "LUZP1", "leucine zipper protein 1", "luzp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7798 ; - skos:exactMatch HGNC_symbol:LUZP1 ; + skos:exactMatch UMLS:C1423111, + HGNC:14985, + HGNC_symbol:LUZP1 ; biolink:category biolink:Gene . OMIM:601423 a owl:Class ; @@ -138411,12 +142224,13 @@ OMIM:601423 a owl:Class ; PMID:8995763, PMID:9299239, PMID:9489705 ; - oboInOwl:hasDbXref UMLS:C1442760 ; oboInOwl:hasExactSynonym "TDG", "thymine-dna glycosylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6996 ; - skos:exactMatch HGNC_symbol:TDG ; + skos:exactMatch UMLS:C1442760, + HGNC:11700, + HGNC_symbol:TDG ; biolink:category biolink:Gene . OMIM:601424 a owl:Class ; @@ -138430,14 +142244,15 @@ OMIM:601424 a owl:Class ; PMID:9671268 ; RO:0002525 CHR:9606chr5p13.1 ; RO:0003303 OMIM:245050 ; - oboInOwl:hasDbXref UMLS:C1538557 ; oboInOwl:hasExactSynonym "3-oxoacid coa transferase 1", "OXCT1", "oxct", "succinyl-coa:3-oxoacid-coa transferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5019 ; - skos:exactMatch HGNC_symbol:OXCT1 ; + skos:exactMatch UMLS:C1538557, + HGNC:8527, + HGNC_symbol:OXCT1 ; biolink:category biolink:Gene . OMIM:601425 a owl:Class ; @@ -138448,7 +142263,6 @@ OMIM:601425 a owl:Class ; PMID:8112616, PMID:8812434, PMID:9604937 ; - oboInOwl:hasDbXref UMLS:C1420622 ; oboInOwl:hasExactSynonym "TCEA1", "sii", "tcea", @@ -138456,7 +142270,9 @@ OMIM:601425 a owl:Class ; "transcription elongation factor a, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6917 ; - skos:exactMatch HGNC_symbol:TCEA1 ; + skos:exactMatch UMLS:C1420622, + HGNC:11612, + HGNC_symbol:TCEA1 ; biolink:category biolink:Gene . OMIM:601426 a owl:Class ; @@ -138469,21 +142285,22 @@ OMIM:601426 a owl:Class ; PMID:7708055, PMID:8016112, PMID:8661150 ; - oboInOwl:hasDbXref UMLS:C1417830 ; oboInOwl:hasExactSynonym "NR2C2", "nuclear hormone receptor tr4 testicular nuclear receptor 4", "nuclear receptor subfamily 2, group c, member 2", "tak1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7182 ; - skos:exactMatch HGNC_symbol:NR2C2 ; + skos:exactMatch UMLS:C1417830, + HGNC:7972, + HGNC_symbol:NR2C2 ; biolink:category biolink:Gene . OMIM:601427 a owl:Class ; rdfs:label "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" ; IAO:0000142 PMID:7537583 ; - oboInOwl:hasDbXref UMLS:C1832362 ; - oboInOwl:hasExactSynonym "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" . + oboInOwl:hasExactSynonym "anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" ; + skos:exactMatch UMLS:C1832362 . OMIM:601428 a owl:Class ; rdfs:label "RNU4ATAC" ; @@ -138504,28 +142321,30 @@ OMIM:601428 a owl:Class ; PMID:9428511 ; RO:0002525 CHR:9606chr2q14.2 ; RO:0003303 OMIM:616651 ; - oboInOwl:hasDbXref UMLS:C0796021, - UMLS:C1832361, - UMLS:C1846059, - UMLS:C1859452 ; oboInOwl:hasExactSynonym "RNU4ATAC", "rna, u4, small nuclear, at-ac form", "rna, u4atac small nuclear" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100151683 ; - skos:exactMatch HGNC_symbol:RNU4ATAC ; + skos:exactMatch UMLS:C0796021, + UMLS:C1832361, + UMLS:C1846059, + UMLS:C1859452, + HGNC:34016, + HGNC_symbol:RNU4ATAC ; biolink:category biolink:Gene . OMIM:601429 a owl:Class ; rdfs:label "RNU6ATAC" ; IAO:0000142 PMID:8791582 ; - oboInOwl:hasDbXref UMLS:C1832360 ; oboInOwl:hasExactSynonym "RNU6ATAC", "rna, u6, small nuclear, at-ac form", "rna, u6atac small nuclear" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100151684 ; - skos:exactMatch HGNC_symbol:RNU6ATAC ; + skos:exactMatch UMLS:C1832360, + HGNC:34017, + HGNC_symbol:RNU6ATAC ; biolink:category biolink:Gene . OMIM:601430 a owl:Class ; @@ -138541,7 +142360,6 @@ OMIM:601430 a owl:Class ; PMID:8855285, PMID:9064659, PMID:9707591 ; - oboInOwl:hasDbXref UMLS:C1823600 ; oboInOwl:hasExactSynonym "UPF1", "hupf1", "regulator of nonsense transcripts 1", @@ -138549,13 +142367,14 @@ OMIM:601430 a owl:Class ; "upf1, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5976 ; - skos:exactMatch HGNC_symbol:UPF1 ; + skos:exactMatch UMLS:C1823600, + HGNC:9962, + HGNC_symbol:UPF1 ; biolink:category biolink:Gene . OMIM:601431 a owl:Class ; rdfs:label "TRA-TGC7-1" ; IAO:0000142 PMID:8661117 ; - oboInOwl:hasDbXref UMLS:C1420951 ; oboInOwl:hasExactSynonym "TRA-TGC7-1", "transfer RNA alanine 1", "trna alanine", @@ -138563,13 +142382,14 @@ OMIM:601431 a owl:Class ; "trna-ala (anticodon tgc) 7-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7154 ; - skos:exactMatch HGNC_symbol:TRA-TGC7-1 ; + skos:exactMatch UMLS:C1420951, + HGNC:12098, + HGNC_symbol:TRA-TGC7-1 ; biolink:category biolink:Gene . OMIM:601432 a owl:Class ; rdfs:label "TRR-TCG4-1" ; IAO:0000142 PMID:8661117 ; - oboInOwl:hasDbXref UMLS:C1421180 ; oboInOwl:hasExactSynonym "TRR-TCG4-1", "transfer RNA arginine 3", "trna arginine (anticodon tcg) 4-1", @@ -138577,7 +142397,9 @@ OMIM:601432 a owl:Class ; "trna-arg (anticodon tcg) 4-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7232 ; - skos:exactMatch HGNC_symbol:TRR-TCG4-1 ; + skos:exactMatch UMLS:C1421180, + HGNC:12345, + HGNC_symbol:TRR-TCG4-1 ; biolink:category biolink:Gene . OMIM:601433 a owl:Class ; @@ -138587,14 +142409,15 @@ OMIM:601433 a owl:Class ; OMIM:601435 a owl:Class ; rdfs:label "SKP1P2" ; IAO:0000142 PMID:8646875 ; - oboInOwl:hasDbXref UMLS:C1420082 ; oboInOwl:hasExactSynonym "SKP1P2", "cdk2/cyclin a-associated protein p19b", "s-phase kinase-associated protein 1 pseudogene 2", "s-phase kinase-associated protein 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728622 ; - skos:exactMatch HGNC_symbol:SKP1P2 ; + skos:exactMatch UMLS:C1420082, + HGNC:10900, + HGNC_symbol:SKP1P2 ; biolink:category biolink:Gene . OMIM:601436 a owl:Class ; @@ -138615,14 +142438,15 @@ OMIM:601436 a owl:Class ; PMID:7553852, PMID:8646875, PMID:8706131 ; - oboInOwl:hasDbXref UMLS:C1335831 ; oboInOwl:hasExactSynonym "SKP2", "cdk2/cyclin a-associated protein p45", "f-box and leucine-rich repeat protein 1", "s-phase kinase-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6502 ; - skos:exactMatch HGNC_symbol:SKP2 ; + skos:exactMatch UMLS:C1335831, + HGNC:10901, + HGNC_symbol:SKP2 ; biolink:category biolink:Gene . OMIM:601437 a owl:Class ; @@ -138636,14 +142460,15 @@ OMIM:601437 a owl:Class ; PMID:7964511, PMID:8643606, PMID:8646894 ; - oboInOwl:hasDbXref UMLS:C1414557 ; oboInOwl:hasExactSynonym "FCGRT", "fc fragment of igg receptor and transporter", "fc fragment of igg, receptor transporter, alpha", "immunoglobulin receptor, intestinal, heavy chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2217 ; - skos:exactMatch HGNC_symbol:FCGRT ; + skos:exactMatch UMLS:C1414557, + HGNC:3621, + HGNC_symbol:FCGRT ; biolink:category biolink:Gene . OMIM:601438 a owl:Class ; @@ -138652,8 +142477,8 @@ OMIM:601438 a owl:Class ; PMID:11214690, PMID:15103724, PMID:7551157 ; - oboInOwl:hasDbXref UMLS:C1832359 ; - oboInOwl:hasExactSynonym "rhizomelic dysplasia, patterson-lowry iia" . + oboInOwl:hasExactSynonym "rhizomelic dysplasia, patterson-lowry iia" ; + skos:exactMatch UMLS:C1832359 . OMIM:601439 a owl:Class ; rdfs:label "ABCC9" ; @@ -138671,16 +142496,17 @@ OMIM:601439 a owl:Class ; PMID:8826984 ; RO:0002525 CHR:9606chr12p12.1 ; RO:0003303 OMIM:619719 ; - oboInOwl:hasDbXref UMLS:C0795905, - UMLS:C1412083, - UMLS:C1837839, - UMLS:C3279695 ; oboInOwl:hasExactSynonym "ABCC9", "atp-binding cassette, subfamily c, member 9", "sulfonylurea receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10060 ; - skos:exactMatch HGNC_symbol:ABCC9 ; + skos:exactMatch UMLS:C0795905, + UMLS:C1412083, + UMLS:C1837839, + UMLS:C3279695, + HGNC:60, + HGNC_symbol:ABCC9 ; biolink:category biolink:Gene . OMIM:601440 a owl:Class ; @@ -138691,13 +142517,14 @@ OMIM:601440 a owl:Class ; PMID:8626589 ; RO:0002525 CHR:9606chr17q22 ; RO:0003303 OMIM:615008 ; - oboInOwl:hasDbXref UMLS:C1414032 ; oboInOwl:hasExactSynonym "DGKE", "dgk-epsilon", "diacylglycerol kinase, epsilon, 64-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8526 ; - skos:exactMatch HGNC_symbol:DGKE ; + skos:exactMatch UMLS:C1414032, + HGNC:2852, + HGNC_symbol:DGKE ; biolink:category biolink:Gene . OMIM:601441 a owl:Class ; @@ -138707,12 +142534,13 @@ OMIM:601441 a owl:Class ; PMID:12883552, PMID:8626588, PMID:9716136 ; - oboInOwl:hasDbXref UMLS:C1414037 ; oboInOwl:hasExactSynonym "dgk-zeta", "diacylglycerol kinase, zeta, 104-kd: dgkz" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8525 ; - skos:exactMatch HGNC_symbol:DGKZ ; + skos:exactMatch UMLS:C1414037, + HGNC:2857, + HGNC_symbol:DGKZ ; biolink:category biolink:Gene . OMIM:601442 a owl:Class ; @@ -138727,13 +142555,14 @@ OMIM:601442 a owl:Class ; PMID:8800436, PMID:8938448, PMID:9530637 ; - oboInOwl:hasDbXref UMLS:C1413355 ; oboInOwl:hasExactSynonym "CFL1", "cofilin 1", "cofilin, nonmuscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1072 ; - skos:exactMatch HGNC_symbol:CFL1 ; + skos:exactMatch UMLS:C1413355, + HGNC:1874, + HGNC_symbol:CFL1 ; biolink:category biolink:Gene . OMIM:601443 a owl:Class ; @@ -138749,13 +142578,14 @@ OMIM:601443 a owl:Class ; PMID:8800436 ; RO:0002525 CHR:9606chr14q13.1 ; RO:0003303 OMIM:610687 ; - oboInOwl:hasDbXref UMLS:C1413356 ; oboInOwl:hasExactSynonym "CFL2", "cofilin 2", "cofilin, muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1073 ; - skos:exactMatch HGNC_symbol:CFL2 ; + skos:exactMatch UMLS:C1413356, + HGNC:1875, + HGNC_symbol:CFL2 ; biolink:category biolink:Gene . OMIM:601444 a owl:Class ; @@ -138764,14 +142594,15 @@ OMIM:601444 a owl:Class ; PMID:20015953, PMID:25898167, PMID:8646881 ; - oboInOwl:hasDbXref UMLS:C1538324 ; oboInOwl:hasExactSynonym "BLOC1S1", "biogenesis of lysosome-related organelles complex 1, subunit 1", "bloc1, subunit 1", "gcn5-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2647 ; - skos:exactMatch HGNC_symbol:BLOC1S1 ; + skos:exactMatch UMLS:C1538324, + HGNC:4200, + HGNC_symbol:BLOC1S1 ; biolink:category biolink:Gene . OMIM:601445 a owl:Class ; @@ -138783,15 +142614,16 @@ OMIM:601445 a owl:Class ; PMID:9763677 ; RO:0002525 CHR:9606chr8q24.13 ; RO:0003303 OMIM:618245 ; - oboInOwl:hasDbXref UMLS:C1417641, - UMLS:C4748803 ; oboInOwl:hasExactSynonym "NDUFB9", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 9", "nadh-ubiquinone oxidoreductase subunit b9", "nadh-ubiquinone oxidoreductase, subunit b22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4715 ; - skos:exactMatch HGNC_symbol:NDUFB9 ; + skos:exactMatch UMLS:C1417641, + UMLS:C4748803, + HGNC:7704, + HGNC_symbol:NDUFB9 ; biolink:category biolink:Gene . OMIM:601446 a owl:Class ; @@ -138803,28 +142635,29 @@ OMIM:601447 a owl:Class ; IAO:0000142 PMID:16564012, PMID:7578059, PMID:8723724 ; - oboInOwl:hasDbXref UMLS:C1421406 ; oboInOwl:hasExactSynonym "USP5", "isopeptidase t", "ubiquitin-specific protease 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8078 ; - skos:exactMatch HGNC_symbol:USP5 ; + skos:exactMatch UMLS:C1421406, + HGNC:12628, + HGNC_symbol:USP5 ; biolink:category biolink:Gene . OMIM:601449 a owl:Class ; rdfs:label "deafness, progressive, with stapes fixation" ; IAO:0000142 PMID:1919348, PMID:8818948 ; - oboInOwl:hasDbXref UMLS:C1832354 ; - oboInOwl:hasExactSynonym "deafness, progressive, with stapes fixation" . + oboInOwl:hasExactSynonym "deafness, progressive, with stapes fixation" ; + skos:exactMatch UMLS:C1832354 . OMIM:601450 a owl:Class ; rdfs:label "dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism" ; IAO:0000142 PMID:8574416 ; - oboInOwl:hasDbXref UMLS:C1832353 ; oboInOwl:hasExactSynonym "dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism", - "hip, congenital dislocation of, with hyperextensibility of fingers and facial dysmorphism" . + "hip, congenital dislocation of, with hyperextensibility of fingers and facial dysmorphism" ; + skos:exactMatch UMLS:C1832353 . OMIM:601451 a owl:Class ; IAO:0100001 OMIM:225400 ; @@ -138837,18 +142670,18 @@ OMIM:601452 a owl:Class ; PMID:20602490, PMID:8574425, PMID:9220196 ; - oboInOwl:hasDbXref UMLS:C1832352 ; oboInOwl:hasExactSynonym "OAFNS", "oculoauriculofrontonasal dysplasia", "oculoauriculofrontonasal syndrome" ; + skos:exactMatch UMLS:C1832352 ; biolink:category biolink:Disease . OMIM:601453 a owl:Class ; rdfs:label "trichodental dysplasia" ; IAO:0000142 PMID:3828219, PMID:8574424 ; - oboInOwl:hasDbXref UMLS:C0406724 ; - oboInOwl:hasExactSynonym "trichodental dysplasia" . + oboInOwl:hasExactSynonym "trichodental dysplasia" ; + skos:exactMatch UMLS:C0406724 . OMIM:601456 a owl:Class ; rdfs:label "MMRN1" ; @@ -138860,14 +142693,15 @@ OMIM:601456 a owl:Class ; PMID:8514871, PMID:8652809, PMID:9372017 ; - oboInOwl:hasDbXref UMLS:C1417215 ; oboInOwl:hasExactSynonym "MMRN1", "endothelial cell multimerin", "mmrn", "multimerin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22915 ; - skos:exactMatch HGNC_symbol:MMRN1 ; + skos:exactMatch UMLS:C1417215, + HGNC:7178, + HGNC_symbol:MMRN1 ; biolink:category biolink:Gene . OMIM:601459 a owl:Class ; @@ -138879,7 +142713,6 @@ OMIM:601459 a owl:Class ; PMID:9155012, PMID:9521323, PMID:9707118 ; - oboInOwl:hasDbXref UMLS:C1418716 ; oboInOwl:hasExactSynonym "PNOC", "n/ofq", "nociceptin", @@ -138888,7 +142721,9 @@ OMIM:601459 a owl:Class ; "prepronociceptin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5368 ; - skos:exactMatch HGNC_symbol:PNOC ; + skos:exactMatch UMLS:C1418716, + HGNC:9163, + HGNC_symbol:PNOC ; biolink:category biolink:Gene . OMIM:601460 a owl:Class ; @@ -138903,7 +142738,6 @@ OMIM:601460 a owl:Class ; PMID:9618293 ; RO:0002525 CHR:9606chr3q22.1-q22.2 ; RO:0003303 OMIM:614441 ; - oboInOwl:hasDbXref UMLS:C1420129 ; oboInOwl:hasExactSynonym "SLCO2A1", "organic anion transporter 2a1", "prostaglandin transporter", @@ -138911,7 +142745,9 @@ OMIM:601460 a owl:Class ; "solute carrier organic anion transporter family, member 2a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6578 ; - skos:exactMatch HGNC_symbol:SLCO2A1 ; + skos:exactMatch UMLS:C1420129, + HGNC:10955, + HGNC_symbol:SLCO2A1 ; biolink:category biolink:Gene . OMIM:601461 a owl:Class ; @@ -138932,7 +142768,6 @@ OMIM:601461 a owl:Class ; PMID:24413398, PMID:8872459, PMID:9367153 ; - oboInOwl:hasDbXref UMLS:C1412626 ; oboInOwl:hasExactSynonym "ATOH1", "ath1", "atonal bhlh transcription factor 1", @@ -138941,7 +142776,9 @@ OMIM:601461 a owl:Class ; "math1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:474 ; - skos:exactMatch HGNC_symbol:ATOH1 ; + skos:exactMatch UMLS:C1412626, + HGNC:797, + HGNC_symbol:ATOH1 ; biolink:category biolink:Gene . OMIM:601462 a owl:Class ; @@ -138964,12 +142801,12 @@ OMIM:601462 a owl:Class ; PMID:9546329, PMID:9665624, PMID:9689034 ; - oboInOwl:hasDbXref UMLS:C4084823 ; oboInOwl:hasExactSynonym "CMS1A", "cms iia, formerly", "myasthenic syndrome, congenital, iia iia, formerly", "myasthenic syndrome, congenital, 1a, slow-channel" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4084823 ; biolink:category biolink:Disease . OMIM:601463 a owl:Class ; @@ -138979,12 +142816,13 @@ OMIM:601463 a owl:Class ; PMID:8651928, PMID:8798544, PMID:9169154 ; - oboInOwl:hasDbXref UMLS:C1456461 ; oboInOwl:hasExactSynonym "HAS1", "hyaluronan synthase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3036 ; - skos:exactMatch HGNC_symbol:HAS1 ; + skos:exactMatch UMLS:C1456461, + HGNC:4818, + HGNC_symbol:HAS1 ; biolink:category biolink:Gene . OMIM:601465 a owl:Class ; @@ -139002,13 +142840,14 @@ OMIM:601465 a owl:Class ; PMID:8692979 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:617070 ; - oboInOwl:hasDbXref UMLS:C1414038 ; oboInOwl:hasExactSynonym "DGUOK", "deoxyguanosine kinase", "deoxyguanosine kinase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1716 ; - skos:exactMatch HGNC_symbol:DGUOK ; + skos:exactMatch UMLS:C1414038, + HGNC:2858, + HGNC_symbol:DGUOK ; biolink:category biolink:Gene . OMIM:601466 a owl:Class ; @@ -139017,10 +142856,10 @@ OMIM:601466 a owl:Class ; PMID:1505572, PMID:2048089, PMID:8964424 ; - oboInOwl:hasDbXref UMLS:C0344688 ; oboInOwl:hasExactSynonym "PDV", "patent ductus venosus", - "portosystemic venous shunt, congenital" . + "portosystemic venous shunt, congenital" ; + skos:exactMatch UMLS:C0344688 . OMIM:601467 a owl:Class ; rdfs:label "MAD2L1" ; @@ -139044,7 +142883,6 @@ OMIM:601467 a owl:Class ; PMID:8824189, PMID:9345911, PMID:9615237 ; - oboInOwl:hasDbXref UMLS:C1416959 ; oboInOwl:hasExactSynonym "MAD2L1", "mad2, s. cerevisiae, homolog of", "mitotic arrest-deficient 2 like 1", @@ -139052,7 +142890,9 @@ OMIM:601467 a owl:Class ; "mitotic arrest-deficient 2, s. cerevisiae, homolog-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4085 ; - skos:exactMatch HGNC_symbol:MAD2L1 ; + skos:exactMatch UMLS:C1416959, + HGNC:6763, + HGNC_symbol:MAD2L1 ; biolink:category biolink:Gene . OMIM:601468 a owl:Class ; @@ -139063,7 +142903,6 @@ OMIM:601468 a owl:Class ; PMID:7665609, PMID:8770875, PMID:9703951 ; - oboInOwl:hasDbXref UMLS:C1417039 ; oboInOwl:hasExactSynonym "MAT2A", "mat ii, kidney-specific", "mata2", @@ -139071,7 +142910,9 @@ OMIM:601468 a owl:Class ; "s-adenosylmethionine synthetase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4144 ; - skos:exactMatch HGNC_symbol:MAT2A ; + skos:exactMatch UMLS:C1417039, + HGNC:6904, + HGNC_symbol:MAT2A ; biolink:category biolink:Gene . OMIM:601469 a owl:Class ; @@ -139081,13 +142922,14 @@ OMIM:601469 a owl:Class ; PMID:7797535, PMID:8921382, PMID:9482662 ; - oboInOwl:hasDbXref UMLS:C1419074 ; oboInOwl:hasExactSynonym "PTH2R", "parathyroid hormone 2 receptor", "parathyroid hormone receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5746 ; - skos:exactMatch HGNC_symbol:PTH2R ; + skos:exactMatch UMLS:C1419074, + HGNC:9609, + HGNC_symbol:PTH2R ; biolink:category biolink:Gene . OMIM:601472 a owl:Class ; @@ -139102,24 +142944,25 @@ OMIM:601472 a owl:Class ; PMID:8541851, PMID:8872480, PMID:9879677 ; - oboInOwl:hasDbXref UMLS:C1832274, - ORPHA:99938 ; oboInOwl:hasExactSynonym "CMT2D", "charcot-marie-tooth disease, axonal, iia 2d", "charcot-marie-tooth disease, neuronal, iia 2d", "charcot-marie-tooth neuropathy, iia 2d" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1832274, + ORPHA:99938 ; biolink:category biolink:Disease . OMIM:601473 a owl:Class ; rdfs:label "ZNF75A" ; IAO:0000142 PMID:8661144 ; - oboInOwl:hasDbXref UMLS:C1421830 ; oboInOwl:hasExactSynonym "ZNF75A", "zinc finger protein 75a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7627 ; - skos:exactMatch HGNC_symbol:ZNF75A ; + skos:exactMatch UMLS:C1421830, + HGNC:13146, + HGNC_symbol:ZNF75A ; biolink:category biolink:Gene . OMIM:601474 a owl:Class ; @@ -139132,21 +142975,21 @@ OMIM:601475 a owl:Class ; PMID:8661145, PMID:8893822, PMID:8973917 ; - oboInOwl:hasDbXref UMLS:C1419145 ; oboInOwl:hasExactSynonym "PWP2", "periodic tryptophan protein 2, yeast, homolog of", "pwp2 small subunit processome component", "pwp2h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5822 ; - skos:exactMatch HGNC_symbol:PWP2 ; + skos:exactMatch UMLS:C1419145, + HGNC:9711, + HGNC_symbol:PWP2 ; biolink:category biolink:Gene . OMIM:601476 a owl:Class ; rdfs:label "LAPTM5" ; IAO:0000142 PMID:8661146, PMID:8839844 ; - oboInOwl:hasDbXref UMLS:C1537525 ; oboInOwl:hasExactSynonym "LAPTM5", "lysosome-associated multispanning membrane protein 5", "lysosome-associated protein, transmembrane 5", @@ -139154,7 +142997,9 @@ OMIM:601476 a owl:Class ; "retinoic acid-inducible gene e3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7805 ; - skos:exactMatch HGNC_symbol:LAPTM5 ; + skos:exactMatch UMLS:C1537525, + HGNC:29612, + HGNC_symbol:LAPTM5 ; biolink:category biolink:Gene . OMIM:601477 a owl:Class ; @@ -139165,9 +143010,9 @@ OMIM:601477 a owl:Class ; PMID:2259666, PMID:3806227, PMID:8751682 ; - oboInOwl:hasDbXref UMLS:C1832273 ; oboInOwl:hasExactSynonym "diaphyseal sclerosis, multiple", - "ribbing disease" . + "ribbing disease" ; + skos:exactMatch UMLS:C1832273 . OMIM:601478 a owl:Class ; rdfs:label "MYO1A" ; @@ -139178,12 +143023,13 @@ OMIM:601478 a owl:Class ; PMID:24616153, PMID:8689571, PMID:8884266 ; - oboInOwl:hasDbXref UMLS:C1417558 ; oboInOwl:hasExactSynonym "MYO1A", "myosin 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4640 ; - skos:exactMatch HGNC_symbol:MYO1A ; + skos:exactMatch UMLS:C1417558, + HGNC:7595, + HGNC_symbol:MYO1A ; biolink:category biolink:Gene . OMIM:601479 a owl:Class ; @@ -139194,13 +143040,14 @@ OMIM:601479 a owl:Class ; PMID:8884266 ; RO:0002525 CHR:9606chr15q22.2 ; RO:0003303 OMIM:614131 ; - oboInOwl:hasDbXref UMLS:C1417562 ; oboInOwl:hasExactSynonym "MYO1E", "myosin 1e", "myosin ic, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4643 ; - skos:exactMatch HGNC_symbol:MYO1E ; + skos:exactMatch UMLS:C1417562, + HGNC:7599, + HGNC_symbol:MYO1E ; biolink:category biolink:Gene . OMIM:601480 a owl:Class ; @@ -139209,13 +143056,14 @@ OMIM:601480 a owl:Class ; PMID:8022818, PMID:8884266, PMID:9119401 ; - oboInOwl:hasDbXref UMLS:C1417563 ; oboInOwl:hasExactSynonym "MYO1F", "myosin 1f", "myosin id, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4542 ; - skos:exactMatch HGNC_symbol:MYO1F ; + skos:exactMatch UMLS:C1417563, + HGNC:7600, + HGNC_symbol:MYO1F ; biolink:category biolink:Gene . OMIM:601481 a owl:Class ; @@ -139227,12 +143075,13 @@ OMIM:601481 a owl:Class ; PMID:16894163, PMID:8022818, PMID:8884266 ; - oboInOwl:hasDbXref UMLS:C1417556 ; oboInOwl:hasExactSynonym "MYO10", "myosin 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4651 ; - skos:exactMatch HGNC_symbol:MYO10 ; + skos:exactMatch UMLS:C1417556, + HGNC:7593, + HGNC_symbol:MYO10 ; biolink:category biolink:Gene . OMIM:601482 a owl:Class ; @@ -139246,7 +143095,6 @@ OMIM:601482 a owl:Class ; PMID:8670811, PMID:8884286, PMID:8972183 ; - oboInOwl:hasDbXref UMLS:C1333247 ; oboInOwl:hasExactSynonym "DR1", "downregulator of transcription 1, tbp-binding", "nc2-beta", @@ -139254,7 +143102,9 @@ OMIM:601482 a owl:Class ; "tata box-binding protein-associated phosphoprotein dr1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1810 ; - skos:exactMatch HGNC_symbol:DR1 ; + skos:exactMatch UMLS:C1333247, + HGNC:3017, + HGNC_symbol:DR1 ; biolink:category biolink:Gene . OMIM:601483 a owl:Class ; @@ -139272,14 +143122,15 @@ OMIM:601483 a owl:Class ; PMID:8563758, PMID:9149948, PMID:9500555 ; - oboInOwl:hasDbXref UMLS:C1418452, - UMLS:C1421584 ; oboInOwl:hasExactSynonym "PEG3", "paternally expressed gene 3", "zinc finger gene, imprinted, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5178 ; - skos:exactMatch HGNC_symbol:PEG3 ; + skos:exactMatch UMLS:C1418452, + UMLS:C1421584, + HGNC:8826, + HGNC_symbol:PEG3 ; biolink:category biolink:Gene . OMIM:601484 a owl:Class ; @@ -139289,14 +143140,15 @@ OMIM:601484 a owl:Class ; PMID:8421687, PMID:8554336, PMID:8884283 ; - oboInOwl:hasDbXref UMLS:C1419968 ; oboInOwl:hasExactSynonym "SELENOP", "selenoprotein p", "selenoprotein p, plasma, 1", "selp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6414 ; - skos:exactMatch HGNC_symbol:SELENOP ; + skos:exactMatch UMLS:C1419968, + HGNC:10751, + HGNC_symbol:SELENOP ; biolink:category biolink:Gene . OMIM:601485 a owl:Class ; @@ -139309,12 +143161,13 @@ OMIM:601485 a owl:Class ; PMID:8884284 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:616172 ; - oboInOwl:hasDbXref UMLS:C1420499 ; oboInOwl:hasExactSynonym "STX1B", "syntaxin 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112755 ; - skos:exactMatch HGNC_symbol:STX1B ; + skos:exactMatch UMLS:C1420499, + HGNC:18539, + HGNC_symbol:STX1B ; biolink:category biolink:Gene . OMIM:601486 a owl:Class ; @@ -139334,7 +143187,6 @@ OMIM:601486 a owl:Class ; PMID:9288969, PMID:9700189 ; RO:0002525 CHR:9606chr3p24.3 ; - oboInOwl:hasDbXref UMLS:C1413914 ; oboInOwl:hasExactSynonym "DAZL", "dazla", "deleted 1n azoospermia homolog", @@ -139342,7 +143194,9 @@ OMIM:601486 a owl:Class ; "spgyla" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1618 ; - skos:exactMatch HGNC_symbol:DAZL ; + skos:exactMatch UMLS:C1413914, + HGNC:2685, + HGNC_symbol:DAZL ; biolink:category biolink:Gene . OMIM:601487 a owl:Class ; @@ -139488,7 +143342,15 @@ OMIM:601487 a owl:Class ; PMID:9918859 ; RO:0002525 CHR:9606chr3p25.2 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C0028756, + oboInOwl:hasExactSynonym "PPARG", + "pax8/pparg fusion gene", + "peroxisome proliferator-activated receptor-gamma", + "pparg1", + "pparg2", + "pparg3" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:5468 ; + skos:exactMatch UMLS:C0028756, UMLS:C1335238, UMLS:C1720861, UMLS:C1832250, @@ -139499,16 +143361,9 @@ OMIM:601487 a owl:Class ; UMLS:C4016737, UMLS:C4016738, UMLS:C5193186, - UMLS:C5436966 ; - oboInOwl:hasExactSynonym "PPARG", - "pax8/pparg fusion gene", - "peroxisome proliferator-activated receptor-gamma", - "pparg1", - "pparg2", - "pparg3" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:5468 ; - skos:exactMatch HGNC_symbol:PPARG ; + UMLS:C5436966, + HGNC:9236, + HGNC_symbol:PPARG ; biolink:category biolink:Gene . OMIM:601488 a owl:Class ; @@ -139526,15 +143381,16 @@ OMIM:601488 a owl:Class ; PMID:8839867 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:613960 ; - oboInOwl:hasDbXref UMLS:C1417610, - UMLS:C3151409 ; oboInOwl:hasExactSynonym "NCF4", "ncf, 40-kd", "neutrophil cytosolic factor 4", "p40-phox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4689 ; - skos:exactMatch HGNC_symbol:NCF4 ; + skos:exactMatch UMLS:C1417610, + UMLS:C3151409, + HGNC:7662, + HGNC_symbol:NCF4 ; biolink:category biolink:Gene . OMIM:601489 a owl:Class ; @@ -139549,15 +143405,16 @@ OMIM:601489 a owl:Class ; PMID:8816745 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:615961 ; - oboInOwl:hasDbXref UMLS:C1456383, - UMLS:C3900122 ; oboInOwl:hasExactSynonym "IGFALS", "acid-labile subunit", "igfbp, soluble", "insulin-like growth factor-binding protein, acid-labile subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3483 ; - skos:exactMatch HGNC_symbol:IGFALS ; + skos:exactMatch UMLS:C1456383, + UMLS:C3900122, + HGNC:5468, + HGNC_symbol:IGFALS ; biolink:category biolink:Gene . OMIM:601490 a owl:Class ; @@ -139571,13 +143428,14 @@ OMIM:601490 a owl:Class ; PMID:8248255, PMID:8355703, PMID:8469289 ; - oboInOwl:hasDbXref UMLS:C1417699 ; oboInOwl:hasExactSynonym "NFE2", "nuclear factor erythroid 2, p45 subunit", "p45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4778 ; - skos:exactMatch HGNC_symbol:NFE2 ; + skos:exactMatch UMLS:C1417699, + HGNC:7780, + HGNC_symbol:NFE2 ; biolink:category biolink:Gene . OMIM:601491 a owl:Class ; @@ -139585,12 +143443,13 @@ OMIM:601491 a owl:Class ; IAO:0000142 PMID:11159938, PMID:7849716, PMID:9063754 ; - oboInOwl:hasDbXref UMLS:C1416470 ; oboInOwl:hasExactSynonym "IPW", "imprinted 1n prader-willi syndrome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3653 ; - skos:exactMatch HGNC_symbol:IPW ; + skos:exactMatch UMLS:C1416470, + HGNC:6109, + HGNC_symbol:IPW ; biolink:category biolink:Gene . OMIM:601493 a owl:Class ; @@ -139601,11 +143460,6 @@ OMIM:601493 a owl:Class ; PMID:17097056, PMID:26419279, PMID:8823300 ; - oboInOwl:hasDbXref UMLS:C1832244, - UMLS:C3152137, - UMLS:C4225414, - ORPHA:154, - ORPHA:54260 ; oboInOwl:hasExactSynonym "CMD1C", "cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction", "cardiomyopathy, familial hypertrophic, 24", @@ -139613,6 +143467,11 @@ OMIM:601493 a owl:Class ; rdfs:subClassOf OMIMPS:115200, OMIMPS:192600, OMIMPS:604169 ; + skos:exactMatch UMLS:C1832244, + UMLS:C3152137, + UMLS:C4225414, + ORPHA:154, + ORPHA:54260 ; biolink:category biolink:Disease . OMIM:601496 a owl:Class ; @@ -139626,13 +143485,14 @@ OMIM:601496 a owl:Class ; PMID:9465906, PMID:9482105, PMID:9600247 ; - oboInOwl:hasDbXref UMLS:C1415048 ; oboInOwl:hasExactSynonym "GFRA1", "gdnf family receptor alpha-1", "glial cell line-derived neurotrophic factor receptor alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2674 ; - skos:exactMatch HGNC_symbol:GFRA1 ; + skos:exactMatch UMLS:C1415048, + HGNC:4243, + HGNC_symbol:GFRA1 ; biolink:category biolink:Gene . OMIM:601497 a owl:Class ; @@ -139646,14 +143506,15 @@ OMIM:601497 a owl:Class ; PMID:8812483, PMID:8947043, PMID:9603979 ; - oboInOwl:hasDbXref UMLS:C1332371 ; oboInOwl:hasExactSynonym "BAG1", "bag cochaperone 1", "bcl2-associated athanogene 1", "receptor-associated protein, 46-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:573 ; - skos:exactMatch HGNC_symbol:BAG1 ; + skos:exactMatch UMLS:C1332371, + HGNC:937, + HGNC_symbol:BAG1 ; biolink:category biolink:Gene . OMIM:601500 a owl:Class ; @@ -139692,22 +143553,22 @@ OMIM:601500 a owl:Class ; PMID:9628830 ; RO:0002525 CHR:9606chr7q32.1 ; RO:0003303 OMIM:241800 ; - oboInOwl:hasDbXref UMLS:C1364142, - UMLS:C3838465, - UMLS:C4310933, - UMLS:C5435677 ; oboInOwl:hasExactSynonym "SMO", "smoothened, drosophila, homolog of", "smoothened, frizzled class receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6608 ; - skos:exactMatch HGNC_symbol:SMO ; + skos:exactMatch UMLS:C1364142, + UMLS:C3838465, + UMLS:C4310933, + UMLS:C5435677, + HGNC:11119, + HGNC_symbol:SMO ; biolink:category biolink:Gene . OMIM:601502 a owl:Class ; rdfs:label "FCGR1B" ; IAO:0000142 PMID:8697799 ; - oboInOwl:hasDbXref UMLS:C1414551 ; oboInOwl:hasExactSynonym "FCGR1B", "cd64b", "fc fragment of igg receptor ib", @@ -139715,12 +143576,14 @@ OMIM:601502 a owl:Class ; "immunoglobulin g fc receptor 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2210 ; + skos:exactMatch UMLS:C1414551, + HGNC:3614, + HGNC_symbol:FCGR1BP ; biolink:category biolink:Gene . OMIM:601503 a owl:Class ; rdfs:label "FCGR1CP" ; IAO:0000142 PMID:8697799 ; - oboInOwl:hasDbXref UMLS:C1414552 ; oboInOwl:hasExactSynonym "FCGR1CP", "cd64c", "fc fragment of igg receptor ic, pseudogene", @@ -139728,21 +143591,24 @@ OMIM:601503 a owl:Class ; "immunoglobulin g fc receptor 1c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100132417 ; - skos:exactMatch HGNC_symbol:FCGR1CP ; + skos:exactMatch UMLS:C1414552, + HGNC:3615, + HGNC_symbol:FCGR1CP ; biolink:category biolink:Gene . OMIM:601504 a owl:Class ; rdfs:label "SEC14L1" ; IAO:0000142 PMID:11707779, PMID:8697811 ; - oboInOwl:hasDbXref UMLS:C1419922 ; oboInOwl:hasExactSynonym "SEC14L1", "sec14, s. cerevisiae, homolog of, 1", "sec14-like 1", "sec14-like lipid-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6397 ; - skos:exactMatch HGNC_symbol:SEC14L1 ; + skos:exactMatch UMLS:C1419922, + HGNC:10698, + HGNC_symbol:SEC14L1 ; biolink:category biolink:Gene . OMIM:601505 a owl:Class ; @@ -139751,13 +143617,14 @@ OMIM:601505 a owl:Class ; PMID:8107129, PMID:8561900, PMID:8665923 ; - oboInOwl:hasDbXref UMLS:C1421637 ; oboInOwl:hasExactSynonym "ZNF146", "only zinc fingers", "zinc finger protein 146" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7705 ; - skos:exactMatch HGNC_symbol:ZNF146 ; + skos:exactMatch UMLS:C1421637, + HGNC:12931, + HGNC_symbol:ZNF146 ; biolink:category biolink:Gene . OMIM:601506 a owl:Class ; @@ -139767,14 +143634,15 @@ OMIM:601506 a owl:Class ; PMID:17803907, PMID:20558667, PMID:8697812 ; - oboInOwl:hasDbXref UMLS:C1539746 ; oboInOwl:hasExactSynonym "SEPT2", "diff6", "neural precursor cell expressed, developmentally downregulated 5", "septin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4735 ; - skos:exactMatch HGNC_symbol:SEPTIN2 ; + skos:exactMatch UMLS:C1539746, + HGNC:7729, + HGNC_symbol:SEPTIN2 ; biolink:category biolink:Gene . OMIM:601507 a owl:Class ; @@ -139782,14 +143650,15 @@ OMIM:601507 a owl:Class ; IAO:0000142 PMID:15469849, PMID:8697810, PMID:9118953 ; - oboInOwl:hasDbXref UMLS:C1413445 ; oboInOwl:hasExactSynonym "AP3S1", "adaptor-related protein complex 3, sigma-1 subunit", "clathrin adaptor complex ap3, sigma-3a subunit", "clathrin-associated/assembly/adaptor protein, small 3, 22-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1176 ; - skos:exactMatch HGNC_symbol:AP3S1 ; + skos:exactMatch UMLS:C1413445, + HGNC:2013, + HGNC_symbol:AP3S1 ; biolink:category biolink:Gene . OMIM:601508 a owl:Class ; @@ -139802,12 +143671,13 @@ OMIM:601509 a owl:Class ; PMID:16041371, PMID:16826517, PMID:8816764 ; - oboInOwl:hasDbXref UMLS:C1415051 ; oboInOwl:hasExactSynonym "GGH", "gamma-glutamyl hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8836 ; - skos:exactMatch HGNC_symbol:GGH ; + skos:exactMatch UMLS:C1415051, + HGNC:4248, + HGNC_symbol:GGH ; biolink:category biolink:Gene . OMIM:601510 a owl:Class ; @@ -139822,12 +143692,13 @@ OMIM:601510 a owl:Class ; PMID:7906398, PMID:8724849, PMID:8898195 ; - oboInOwl:hasDbXref UMLS:C1822619 ; oboInOwl:hasExactSynonym "SCAP", "srebp cleavage-activating protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22937 ; - skos:exactMatch HGNC_symbol:SCAP ; + skos:exactMatch UMLS:C1822619, + HGNC:30634, + HGNC_symbol:SCAP ; biolink:category biolink:Gene . OMIM:601511 a owl:Class ; @@ -139857,14 +143728,15 @@ OMIM:601511 a owl:Class ; PMID:8692797, PMID:8887644, PMID:9852045 ; - oboInOwl:hasDbXref UMLS:C1335875 ; oboInOwl:hasExactSynonym "STAT5A", "mammary gland factor", "signal transducer and activator of transcription 5", "signal transducer and activator of transcription 5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6776 ; - skos:exactMatch HGNC_symbol:STAT5A ; + skos:exactMatch UMLS:C1335875, + HGNC:11366, + HGNC_symbol:STAT5A ; biolink:category biolink:Gene . OMIM:601512 a owl:Class ; @@ -139898,8 +143770,6 @@ OMIM:601512 a owl:Class ; PMID:9419348, PMID:9605853, PMID:9782085 ; - oboInOwl:hasDbXref UMLS:C1335877, - UMLS:C1832224 ; oboInOwl:hasExactSynonym "STAT6", "il4-stat", "signal transducer and activator of transcription 6", @@ -139909,7 +143779,10 @@ OMIM:601512 a owl:Class ; "stat6c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6778 ; - skos:exactMatch HGNC_symbol:STAT6 ; + skos:exactMatch UMLS:C1335877, + UMLS:C1832224, + HGNC:11368, + HGNC_symbol:STAT6 ; biolink:category biolink:Gene . OMIM:601513 a owl:Class ; @@ -139921,27 +143794,29 @@ OMIM:601513 a owl:Class ; PMID:9345906 ; RO:0002525 CHR:9606chr3q28-q29 ; RO:0003303 OMIM:617166 ; - oboInOwl:hasDbXref UMLS:C1414597, - UMLS:C4310685 ; oboInOwl:hasExactSynonym "FGF12", "fibroblast growth factor 12", "fibroblast growth factor homologous factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2257 ; - skos:exactMatch HGNC_symbol:FGF12 ; + skos:exactMatch UMLS:C1414597, + UMLS:C4310685, + HGNC:3668, + HGNC_symbol:FGF12 ; biolink:category biolink:Gene . OMIM:601514 a owl:Class ; rdfs:label "FGF11" ; IAO:0000142 PMID:8790420, PMID:9070933 ; - oboInOwl:hasDbXref UMLS:C1414596 ; oboInOwl:hasExactSynonym "FGF11", "fibroblast growth factor 11", "fibroblast growth factor homologous factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2256 ; - skos:exactMatch HGNC_symbol:FGF11 ; + skos:exactMatch UMLS:C1414596, + HGNC:3667, + HGNC_symbol:FGF11 ; biolink:category biolink:Gene . OMIM:601515 a owl:Class ; @@ -139954,13 +143829,14 @@ OMIM:601515 a owl:Class ; PMID:8790420 ; RO:0002525 CHR:9606chr13q33.1 ; RO:0003303 OMIM:609307 ; - oboInOwl:hasDbXref UMLS:C1414599 ; oboInOwl:hasExactSynonym "FGF14", "fibroblast growth factor 14", "fibroblast growth factor homologous factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2259 ; - skos:exactMatch HGNC_symbol:FGF14 ; + skos:exactMatch UMLS:C1414599, + HGNC:3671, + HGNC_symbol:FGF14 ; biolink:category biolink:Gene . OMIM:601516 a owl:Class ; @@ -139969,7 +143845,6 @@ OMIM:601516 a owl:Class ; PMID:8938448, PMID:9192847, PMID:9573336 ; - oboInOwl:hasDbXref UMLS:C1421652 ; oboInOwl:hasExactSynonym "SF1", "d11s636", "splicing factor 1", @@ -139977,7 +143852,9 @@ OMIM:601516 a owl:Class ; "zinc finger protein 162" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7536 ; - skos:exactMatch HGNC_symbol:SF1 ; + skos:exactMatch UMLS:C1421652, + HGNC:12950, + HGNC_symbol:SF1 ; biolink:category biolink:Gene . OMIM:601517 a owl:Class ; @@ -140017,12 +143894,13 @@ OMIM:601517 a owl:Class ; PMID:9989626 ; RO:0002525 CHR:9606chr12q24.12 ; RO:0003303 OMIM:168600 ; - oboInOwl:hasDbXref UMLS:C1538299 ; oboInOwl:hasExactSynonym "ATXN2", "ataxin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6311 ; - skos:exactMatch HGNC_symbol:ATXN2 ; + skos:exactMatch UMLS:C1538299, + HGNC:10555, + HGNC_symbol:ATXN2 ; biolink:category biolink:Gene . OMIM:601519 a owl:Class ; @@ -140030,14 +143908,15 @@ OMIM:601519 a owl:Class ; IAO:0000142 PMID:11939412, PMID:7678489, PMID:8702853 ; - oboInOwl:hasDbXref UMLS:C1412667 ; oboInOwl:hasExactSynonym "ATP5ME", "atp synthase membrane subunit e", "atp synthase, h+ transporting, mitochondrial fo complex, subunit e", "f1fo-atp synthase, murine e subunit gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:521 ; - skos:exactMatch HGNC_symbol:ATP5ME ; + skos:exactMatch UMLS:C1412667, + HGNC:846, + HGNC_symbol:ATP5ME ; biolink:category biolink:Gene . OMIM:601520 a owl:Class ; @@ -140046,25 +143925,27 @@ OMIM:601520 a owl:Class ; PMID:9070951, PMID:9169480, PMID:9691168 ; - oboInOwl:hasDbXref UMLS:C1332680 ; oboInOwl:hasExactSynonym "CCL17", "chemokine, cc motif, ligand 17", "small inducible cytokine subfamily a, member 17", "thymus and activation-regulated chemokine" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6361 ; - skos:exactMatch HGNC_symbol:CCL17 ; + skos:exactMatch UMLS:C1332680, + HGNC:10615, + HGNC_symbol:CCL17 ; biolink:category biolink:Gene . OMIM:601521 a owl:Class ; rdfs:label "ESM1" ; IAO:0000142 PMID:8702785 ; - oboInOwl:hasDbXref UMLS:C1414460 ; oboInOwl:hasExactSynonym "ESM1", "endothelial cell-specific molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11082 ; - skos:exactMatch HGNC_symbol:ESM1 ; + skos:exactMatch UMLS:C1414460, + HGNC:3466, + HGNC_symbol:ESM1 ; biolink:category biolink:Gene . OMIM:601522 a owl:Class ; @@ -140074,12 +143955,13 @@ OMIM:601522 a owl:Class ; PMID:1849461, PMID:9360986, PMID:9710451 ; - oboInOwl:hasDbXref UMLS:C1333708 ; oboInOwl:hasExactSynonym "GRB7", "growth factor receptor-bound protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2886 ; - skos:exactMatch HGNC_symbol:GRB7 ; + skos:exactMatch UMLS:C1333708, + HGNC:4567, + HGNC_symbol:GRB7 ; biolink:category biolink:Gene . OMIM:601523 a owl:Class ; @@ -140103,14 +143985,15 @@ OMIM:601523 a owl:Class ; PMID:9070953, PMID:9360986, PMID:9448292 ; - oboInOwl:hasDbXref UMLS:C1366512 ; oboInOwl:hasExactSynonym "GRB10", "grb-ir", "growth factor receptor-bound protein 10", "maternally expressed gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2887 ; - skos:exactMatch HGNC_symbol:GRB10 ; + skos:exactMatch UMLS:C1366512, + HGNC:4564, + HGNC_symbol:GRB10 ; biolink:category biolink:Gene . OMIM:601524 a owl:Class ; @@ -140118,12 +144001,13 @@ OMIM:601524 a owl:Class ; IAO:0000142 PMID:16246733, PMID:8647858, PMID:9360986 ; - oboInOwl:hasDbXref UMLS:C1333706 ; oboInOwl:hasExactSynonym "GRB14", "growth factor receptor-bound protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2888 ; - skos:exactMatch HGNC_symbol:GRB14 ; + skos:exactMatch UMLS:C1333706, + HGNC:4565, + HGNC_symbol:GRB14 ; biolink:category biolink:Gene . OMIM:601525 a owl:Class ; @@ -140136,27 +144020,29 @@ OMIM:601525 a owl:Class ; PMID:9244440 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1413387 ; oboInOwl:hasExactSynonym "CHI3L1", "cartilage glycoprotein 39", "chitinase 3-like 1", "chondrocyte protein ykl40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1116 ; - skos:exactMatch HGNC_symbol:CHI3L1 ; + skos:exactMatch UMLS:C1413387, + HGNC:1932, + HGNC_symbol:CHI3L1 ; biolink:category biolink:Gene . OMIM:601526 a owl:Class ; rdfs:label "CHI3L2" ; IAO:0000142 PMID:8702629 ; - oboInOwl:hasDbXref UMLS:C1413388 ; oboInOwl:hasExactSynonym "CHI3L2", "chitinase 3-like 2", "chondrocyte protein 39", "chondrocyte protein ykl39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1117 ; - skos:exactMatch HGNC_symbol:CHI3L2 ; + skos:exactMatch UMLS:C1413388, + HGNC:1933, + HGNC_symbol:CHI3L2 ; biolink:category biolink:Gene . OMIM:601527 a owl:Class ; @@ -140169,14 +144055,15 @@ OMIM:601527 a owl:Class ; PMID:8756334 ; RO:0002525 CHR:9606chr12q21.31 ; RO:0003303 OMIM:613456 ; - oboInOwl:hasDbXref UMLS:C1413127, - UMLS:C3150706 ; oboInOwl:hasExactSynonym "ALX1", "aristaless-like homeobox 1", "cartilage homeoprotein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8092 ; - skos:exactMatch HGNC_symbol:ALX1 ; + skos:exactMatch UMLS:C1413127, + UMLS:C3150706, + HGNC:1494, + HGNC_symbol:ALX1 ; biolink:category biolink:Gene . OMIM:601528 a owl:Class ; @@ -140193,14 +144080,15 @@ OMIM:601528 a owl:Class ; PMID:8700872 ; RO:0002525 CHR:9606chr4q34.3 ; RO:0003303 OMIM:615907 ; - oboInOwl:hasDbXref UMLS:C1336933, - UMLS:C4747769 ; oboInOwl:hasExactSynonym "VEGFC", "vascular endothelial growth factor c", "vascular endothelial growth factor-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7424 ; - skos:exactMatch HGNC_symbol:VEGFC ; + skos:exactMatch UMLS:C1336933, + UMLS:C4747769, + HGNC:12682, + HGNC_symbol:VEGFC ; biolink:category biolink:Gene . OMIM:601529 a owl:Class ; @@ -140209,13 +144097,14 @@ OMIM:601529 a owl:Class ; PMID:2597158, PMID:3421977, PMID:9774688 ; - oboInOwl:hasDbXref UMLS:C1417829 ; oboInOwl:hasExactSynonym "NR2C1", "nuclear hormone receptor tr2", "nuclear receptor subfamily 2, group c, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7181 ; - skos:exactMatch HGNC_symbol:NR2C1 ; + skos:exactMatch UMLS:C1417829, + HGNC:7971, + HGNC_symbol:NR2C1 ; biolink:category biolink:Gene . OMIM:601530 a owl:Class ; @@ -140245,13 +144134,14 @@ OMIM:601530 a owl:Class ; PMID:8702753 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:167250 ; - oboInOwl:hasDbXref UMLS:C1420393 ; oboInOwl:hasExactSynonym "SQSTM1", "sequestosome 1", "ubiquitin-binding protein p62" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8878 ; - skos:exactMatch HGNC_symbol:SQSTM1 ; + skos:exactMatch UMLS:C1420393, + HGNC:11280, + HGNC_symbol:SQSTM1 ; biolink:category biolink:Gene . OMIM:601532 a owl:Class ; @@ -140264,13 +144154,14 @@ OMIM:601532 a owl:Class ; PMID:8663580, PMID:8780721, PMID:9021152 ; - oboInOwl:hasDbXref UMLS:C1332665 ; oboInOwl:hasExactSynonym "CASP6", "apoptotic cysteine protease mch2", "caspase 6, apoptosis-related cysteine protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:839 ; - skos:exactMatch HGNC_symbol:CASP6 ; + skos:exactMatch UMLS:C1332665, + HGNC:1507, + HGNC_symbol:CASP6 ; biolink:category biolink:Gene . OMIM:601534 a owl:Class ; @@ -140283,14 +144174,15 @@ OMIM:601534 a owl:Class ; PMID:8804710, PMID:9119365, PMID:9891030 ; - oboInOwl:hasDbXref UMLS:C1416585 ; oboInOwl:hasExactSynonym "KCNJ3", "girk1", "inwardly rectifying potassium channel kir3.1", "potassium channel, inwardly rectifying, subfamily j, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3760 ; - skos:exactMatch HGNC_symbol:KCNJ3 ; + skos:exactMatch UMLS:C1416585, + HGNC:6264, + HGNC_symbol:KCNJ3 ; biolink:category biolink:Gene . OMIM:601535 a owl:Class ; @@ -140308,7 +144200,6 @@ OMIM:601535 a owl:Class ; PMID:8661153, PMID:9135142, PMID:9491985 ; - oboInOwl:hasDbXref UMLS:C1414304 ; oboInOwl:hasExactSynonym "EFNA5", "efl5", "eph-related receptor tyrosine kinase ligand 7", @@ -140317,14 +144208,16 @@ OMIM:601535 a owl:Class ; "rags" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1946 ; - skos:exactMatch HGNC_symbol:EFNA5 ; + skos:exactMatch UMLS:C1414304, + HGNC:3225, + HGNC_symbol:EFNA5 ; biolink:category biolink:Gene . OMIM:601537 a owl:Class ; rdfs:label "microcephaly, retinitis pigmentosa, and sutural cataract" ; IAO:0000142 PMID:7749665 ; - oboInOwl:hasDbXref UMLS:C1832214 ; oboInOwl:hasExactSynonym "microcephaly, retinitis pigmentosa, and sutural cataract" ; + skos:exactMatch UMLS:C1832214 ; biolink:category biolink:Disease . OMIM:601538 a owl:Class ; @@ -140360,14 +144253,15 @@ OMIM:601538 a owl:Class ; PMID:9920061 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:262600 ; - oboInOwl:hasDbXref UMLS:C0878683, - UMLS:C1418947 ; oboInOwl:hasExactSynonym "PROP1", "prop paired-like homeobox 1", "prophet of pit1, paired-like homeodomain transcription factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5626 ; - skos:exactMatch HGNC_symbol:PROP1 ; + skos:exactMatch UMLS:C0878683, + UMLS:C1418947, + HGNC:9455, + HGNC_symbol:PROP1 ; biolink:category biolink:Gene . OMIM:601540 a owl:Class ; @@ -140378,14 +144272,15 @@ OMIM:601540 a owl:Class ; PMID:7584044, PMID:8595877, PMID:8781126 ; - oboInOwl:hasDbXref UMLS:C1366556 ; oboInOwl:hasExactSynonym "BRD2", "bromodomain-containing protein 2", "female sterile homeotic-related gene 1, mouse, homolog of", "ring3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6046 ; - skos:exactMatch HGNC_symbol:BRD2 ; + skos:exactMatch UMLS:C1366556, + HGNC:1103, + HGNC_symbol:BRD2 ; biolink:category biolink:Gene . OMIM:601541 a owl:Class ; @@ -140393,14 +144288,15 @@ OMIM:601541 a owl:Class ; IAO:0000142 PMID:21964340, PMID:7584044, PMID:8781126 ; - oboInOwl:hasDbXref UMLS:C1412821 ; oboInOwl:hasExactSynonym "BRD3", "bromodomain-containing protein 3", "open reading frame 10", "ring3-like gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8019 ; - skos:exactMatch HGNC_symbol:BRD3 ; + skos:exactMatch UMLS:C1412821, + HGNC:1104, + HGNC_symbol:BRD3 ; biolink:category biolink:Gene . OMIM:601544 a owl:Class ; @@ -140413,11 +144309,11 @@ OMIM:601544 a owl:Class ; PMID:9139825, PMID:9529365, PMID:9620796 ; - oboInOwl:hasDbXref UMLS:C2675750, - ORPHA:90635 ; oboInOwl:hasExactSynonym "DFNA3A", "deafness, autosomal dominant 3a" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C2675750, + ORPHA:90635 ; biolink:category biolink:Disease . OMIM:601546 a owl:Class ; @@ -140432,13 +144328,14 @@ OMIM:601546 a owl:Class ; PMID:20558617, PMID:28024299, PMID:8812486 ; - oboInOwl:hasDbXref UMLS:C1418951 ; oboInOwl:hasExactSynonym "PROX1", "homeobox gene prox1", "prospero-related homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5629 ; - skos:exactMatch HGNC_symbol:PROX1 ; + skos:exactMatch UMLS:C1418951, + HGNC:9459, + HGNC_symbol:PROX1 ; biolink:category biolink:Gene . OMIM:601548 a owl:Class ; @@ -140456,7 +144353,6 @@ OMIM:601548 a owl:Class ; PMID:8812496 ; RO:0002525 CHR:9606chr2p16.1 ; RO:0003303 OMIM:126600 ; - oboInOwl:hasDbXref UMLS:C1414297 ; oboInOwl:hasExactSynonym "EFEMP1", "egf-containing fibulin-like extracellular matrix protein 1", "fibrillin-like", @@ -140464,14 +144360,16 @@ OMIM:601548 a owl:Class ; "s1-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2202 ; - skos:exactMatch HGNC_symbol:EFEMP1 ; + skos:exactMatch UMLS:C1414297, + HGNC:3218, + HGNC_symbol:EFEMP1 ; biolink:category biolink:Gene . OMIM:601549 a owl:Class ; rdfs:label "alacrima, congenital, autosomal recessive" ; IAO:0000142 PMID:8740696 ; - oboInOwl:hasDbXref UMLS:C4012597 ; oboInOwl:hasExactSynonym "alacrima, congenital, autosomal recessive" ; + skos:exactMatch UMLS:C4012597 ; biolink:category biolink:Disease . OMIM:601550 a owl:Class ; @@ -140482,10 +144380,10 @@ OMIM:601550 a owl:Class ; PMID:3369142, PMID:8578746, PMID:8693505 ; - oboInOwl:hasDbXref UMLS:C1832169 ; oboInOwl:hasExactSynonym "SW", "blood group--swann system", "swann blood group" ; + skos:exactMatch UMLS:C1832169 ; biolink:category biolink:Disease . OMIM:601551 a owl:Class ; @@ -140494,10 +144392,10 @@ OMIM:601551 a owl:Class ; PMID:695442, PMID:8578746, PMID:8693505 ; - oboInOwl:hasDbXref UMLS:C1832168 ; oboInOwl:hasExactSynonym "blood group--froese", "fr", "froese blood group antigen" ; + skos:exactMatch UMLS:C1832168 ; biolink:category biolink:Disease . OMIM:601554 a owl:Class ; @@ -140507,7 +144405,6 @@ OMIM:601554 a owl:Class ; PMID:21262767, PMID:7074683, PMID:8646886 ; - oboInOwl:hasDbXref UMLS:C1825018 ; oboInOwl:hasExactSynonym "DYNLT1", "dynein, light chain, tctex type, 1", "t complex-associated testis-expressed 1-like 1", @@ -140515,7 +144412,9 @@ OMIM:601554 a owl:Class ; "tctex1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6993 ; - skos:exactMatch HGNC_symbol:DYNLT1 ; + skos:exactMatch UMLS:C1825018, + HGNC:11697, + HGNC_symbol:DYNLT1 ; biolink:category biolink:Gene . OMIM:601555 a owl:Class ; @@ -140525,7 +144424,6 @@ OMIM:601555 a owl:Class ; PMID:1909153, PMID:8938427, PMID:9531558 ; - oboInOwl:hasDbXref UMLS:C1538856 ; oboInOwl:hasExactSynonym "RND2", "arhn", "gtp-binding protein rho7", @@ -140533,7 +144431,9 @@ OMIM:601555 a owl:Class ; "rho family gtpase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8153 ; - skos:exactMatch HGNC_symbol:RND2 ; + skos:exactMatch UMLS:C1538856, + HGNC:18315, + HGNC_symbol:RND2 ; biolink:category biolink:Gene . OMIM:601556 a owl:Class ; @@ -140577,14 +144477,15 @@ OMIM:601556 a owl:Class ; PMID:9778239 ; RO:0002525 CHR:9606chr6p22.3 ; RO:0003303 OMIM:164400 ; - oboInOwl:hasDbXref UMLS:C1538298 ; oboInOwl:hasExactSynonym "ATXN1", "alt-atxn1", "ataxin 1", "atxn1, alternative reading frame" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6310 ; - skos:exactMatch HGNC_symbol:ATXN1 ; + skos:exactMatch UMLS:C1538298, + HGNC:10548, + HGNC_symbol:ATXN1 ; biolink:category biolink:Gene . OMIM:601557 a owl:Class ; @@ -140596,42 +144497,44 @@ OMIM:601557 a owl:Class ; PMID:8876158, PMID:9099716, PMID:9284908 ; - oboInOwl:hasDbXref UMLS:C1412105 ; oboInOwl:hasExactSynonym "ACACB", "accb", "acetyl-coa carboxylase 2", "acetyl-coa carboxylase-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:32 ; - skos:exactMatch HGNC_symbol:ACACB ; + skos:exactMatch UMLS:C1412105, + HGNC:85, + HGNC_symbol:ACACB ; biolink:category biolink:Gene . OMIM:601558 a owl:Class ; rdfs:label "RBPMS" ; IAO:0000142 PMID:16713569, PMID:8855282 ; - oboInOwl:hasDbXref UMLS:C1426009 ; oboInOwl:hasExactSynonym "RBPMS", "rbpms1", "rna-binding protein gene with multiple splicing", "rna-binding protein, mrna-processing factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11030 ; - skos:exactMatch HGNC_symbol:RBPMS ; + skos:exactMatch UMLS:C1426009, + HGNC:19097, + HGNC_symbol:RBPMS ; biolink:category biolink:Gene . OMIM:601560 a owl:Class ; rdfs:label "multiple epiphyseal dysplasia with robin phenotype" ; IAO:0000142 PMID:8723087 ; - oboInOwl:hasDbXref UMLS:C1832112 ; oboInOwl:hasExactSynonym "epiphyseal dysplasia, multiple, with robin phenotype", - "multiple epiphyseal dysplasia with robin phenotype" . + "multiple epiphyseal dysplasia with robin phenotype" ; + skos:exactMatch UMLS:C1832112 . OMIM:601561 a owl:Class ; rdfs:label "dyssegmental dysplasia with glaucoma" ; IAO:0000142 PMID:8723085 ; - oboInOwl:hasDbXref UMLS:C1832111 ; - oboInOwl:hasExactSynonym "dyssegmental dysplasia with glaucoma" . + oboInOwl:hasExactSynonym "dyssegmental dysplasia with glaucoma" ; + skos:exactMatch UMLS:C1832111 . OMIM:601562 a owl:Class ; rdfs:label "DYNLL1" ; @@ -140643,7 +144546,6 @@ OMIM:601562 a owl:Class ; PMID:30464262, PMID:8628263, PMID:8864115 ; - oboInOwl:hasDbXref UMLS:C1825012 ; oboInOwl:hasExactSynonym "DYNLL1", "dynein, cytoplasmic, light chain 1", "dynein, light chain, lc8 type, 1", @@ -140651,7 +144553,9 @@ OMIM:601562 a owl:Class ; "protein inhibitor of neuronal nos" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8655 ; - skos:exactMatch HGNC_symbol:DYNLL1 ; + skos:exactMatch UMLS:C1825012, + HGNC:15476, + HGNC_symbol:DYNLL1 ; biolink:category biolink:Gene . OMIM:601563 a owl:Class ; @@ -140665,7 +144569,6 @@ OMIM:601564 a owl:Class ; PMID:8650574 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:167800 ; - oboInOwl:hasDbXref UMLS:C1418970 ; oboInOwl:hasExactSynonym "PRSS2", "protease, serine, 2", "trypsin 2", @@ -140673,7 +144576,9 @@ OMIM:601564 a owl:Class ; "trypsinogen, anionic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5645 ; - skos:exactMatch HGNC_symbol:PRSS2 ; + skos:exactMatch UMLS:C1418970, + HGNC:9483, + HGNC_symbol:PRSS2 ; biolink:category biolink:Gene . OMIM:601565 a owl:Class ; @@ -140700,13 +144605,14 @@ OMIM:601565 a owl:Class ; PMID:8861914 ; RO:0002525 CHR:9606chr16q24.1 ; RO:0003303 OMIM:226990 ; - oboInOwl:hasDbXref UMLS:C1537422 ; oboInOwl:hasExactSynonym "IRF8", "interferon consensus sequence-binding protein 1", "interferon regulatory factor 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3394 ; - skos:exactMatch HGNC_symbol:IRF8 ; + skos:exactMatch UMLS:C1537422, + HGNC:5358, + HGNC_symbol:IRF8 ; biolink:category biolink:Gene . OMIM:601566 a owl:Class ; @@ -140719,13 +144625,14 @@ OMIM:601566 a owl:Class ; PMID:9330636 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:275355 ; - oboInOwl:hasDbXref UMLS:C1334129 ; oboInOwl:hasExactSynonym "ING1", "inhibitor of growth 1", "p33ing1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3621 ; - skos:exactMatch HGNC_symbol:ING1 ; + skos:exactMatch UMLS:C1334129, + HGNC:6062, + HGNC_symbol:ING1 ; biolink:category biolink:Gene . OMIM:601567 a owl:Class ; @@ -140743,14 +144650,15 @@ OMIM:601567 a owl:Class ; PMID:9546392 ; RO:0002525 CHR:9606chr18q21.32 ; RO:0003303 OMIM:227300 ; - oboInOwl:hasDbXref UMLS:C1416874 ; oboInOwl:hasExactSynonym "LMAN1", "endoplasmic reticulum-golgi intermediate compartment 53", "intracellular mannose specific lectin", "lectin, mannose-binding 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3998 ; - skos:exactMatch HGNC_symbol:LMAN1 ; + skos:exactMatch UMLS:C1416874, + HGNC:6631, + HGNC_symbol:LMAN1 ; biolink:category biolink:Gene . OMIM:601568 a owl:Class ; @@ -140763,8 +144671,6 @@ OMIM:601568 a owl:Class ; PMID:8893809 ; RO:0002525 CHR:9606chr10q25.1-q25.2 ; RO:0003303 OMIM:617008 ; - oboInOwl:hasDbXref UMLS:C1412232, - UMLS:C1832871 ; oboInOwl:hasExactSynonym "ADD3", "add3/nup98 fusion gene", "adducin 3", @@ -140772,20 +144678,24 @@ OMIM:601568 a owl:Class ; "adducin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120 ; - skos:exactMatch HGNC_symbol:ADD3 ; + skos:exactMatch UMLS:C1412232, + UMLS:C1832871, + HGNC:245, + HGNC_symbol:ADD3 ; biolink:category biolink:Gene . OMIM:601569 a owl:Class ; rdfs:label "UBE2G1" ; IAO:0000142 PMID:8893823 ; - oboInOwl:hasDbXref UMLS:C1421280 ; oboInOwl:hasExactSynonym "UBE2G1", "ubc7, c. elegans, homolog of", "ube2g", "ubiquitin-conjugating enzyme e2g 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7326 ; - skos:exactMatch HGNC_symbol:UBE2G1 ; + skos:exactMatch UMLS:C1421280, + HGNC:12482, + HGNC_symbol:UBE2G1 ; biolink:category biolink:Gene . OMIM:601570 a owl:Class ; @@ -140806,38 +144716,41 @@ OMIM:601570 a owl:Class ; PMID:9790192 ; RO:0002525 CHR:9606chr3p25.1 ; RO:0003303 OMIM:276820 ; - oboInOwl:hasDbXref UMLS:C1337005 ; oboInOwl:hasExactSynonym "WNT7A", "wingless-type mmtv integration site family, member 7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7476 ; - skos:exactMatch HGNC_symbol:WNT7A ; + skos:exactMatch UMLS:C1337005, + HGNC:12786, + HGNC_symbol:WNT7A ; biolink:category biolink:Gene . OMIM:601571 a owl:Class ; rdfs:label "CAPZA2" ; IAO:0000142 PMID:7665558, PMID:9119363 ; - oboInOwl:hasDbXref UMLS:C1413123 ; oboInOwl:hasExactSynonym "CAPZA2", "cap protein, actin, alpha-2 subunit", "capping protein, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:830 ; - skos:exactMatch HGNC_symbol:CAPZA2 ; + skos:exactMatch UMLS:C1413123, + HGNC:1490, + HGNC_symbol:CAPZA2 ; biolink:category biolink:Gene . OMIM:601572 a owl:Class ; rdfs:label "CAPZB" ; IAO:0000142 PMID:7665558, PMID:9417921 ; - oboInOwl:hasDbXref UMLS:C1413124 ; oboInOwl:hasExactSynonym "CAPZB", "cap protein, actin, beta", "capping protein, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:832 ; - skos:exactMatch HGNC_symbol:CAPZB ; + skos:exactMatch UMLS:C1413124, + HGNC:1491, + HGNC_symbol:CAPZB ; biolink:category biolink:Gene . OMIM:601573 a owl:Class ; @@ -140880,14 +144793,15 @@ OMIM:601573 a owl:Class ; PMID:9834205 ; RO:0002525 CHR:9606chr7q36.1 ; RO:0003303 OMIM:277590 ; - oboInOwl:hasDbXref UMLS:C1333368 ; oboInOwl:hasExactSynonym "EZH2", "enhancer of zeste 2 polycomb repressive complex 2 subunit", "enhancer of zeste, drosophila, homolog 2", "enx1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2146 ; - skos:exactMatch HGNC_symbol:EZH2 ; + skos:exactMatch UMLS:C1333368, + HGNC:3527, + HGNC_symbol:EZH2 ; biolink:category biolink:Gene . OMIM:601574 a owl:Class ; @@ -140897,8 +144811,6 @@ OMIM:601574 a owl:Class ; PMID:9795213 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:612237 ; - oboInOwl:hasDbXref UMLS:C1420573, - UMLS:C2677451 ; oboInOwl:hasExactSynonym "TAF15", "rbp56/nr4a3 fusion gene", "rna-binding protein 56", @@ -140907,7 +144819,10 @@ OMIM:601574 a owl:Class ; "tbp-associated factor, RNA polymerase ii, 68-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8148 ; - skos:exactMatch HGNC_symbol:TAF15 ; + skos:exactMatch UMLS:C1420573, + UMLS:C2677451, + HGNC:11547, + HGNC_symbol:TAF15 ; biolink:category biolink:Gene . OMIM:601575 a owl:Class ; @@ -140915,14 +144830,15 @@ OMIM:601575 a owl:Class ; IAO:0000142 PMID:18548006, PMID:2107490, PMID:8954781 ; - oboInOwl:hasDbXref UMLS:C0812302 ; oboInOwl:hasExactSynonym "FOSL2", "fos-like 2, ap-1 transcription factor subunit", "fos-like antigen 2", "fos-related antigen 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2355 ; - skos:exactMatch HGNC_symbol:FOSL2 ; + skos:exactMatch UMLS:C0812302, + HGNC:3798, + HGNC_symbol:FOSL2 ; biolink:category biolink:Gene . OMIM:601576 a owl:Class ; @@ -140937,27 +144853,29 @@ OMIM:601576 a owl:Class ; PMID:7563223, PMID:8524829, PMID:8954782 ; - oboInOwl:hasDbXref UMLS:C1419124 ; oboInOwl:hasExactSynonym "PTPRS", "protein-tyrosine phosphatase, receptor-type, sigma", "rptp-sigma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5802 ; - skos:exactMatch HGNC_symbol:PTPRS ; + skos:exactMatch UMLS:C1419124, + HGNC:9681, + HGNC_symbol:PTPRS ; biolink:category biolink:Gene . OMIM:601577 a owl:Class ; rdfs:label "PTPRCAP" ; IAO:0000142 PMID:7961877, PMID:8954783 ; - oboInOwl:hasDbXref UMLS:C1419113 ; oboInOwl:hasExactSynonym "PTPRCAP", "lymphocyte phosphatase-associated phosphoprotein", "protein-tyrosine phosphatase, receptor-type, c polypeptide-associated protein", "ptprc-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5790 ; - skos:exactMatch HGNC_symbol:PTPRCAP ; + skos:exactMatch UMLS:C1419113, + HGNC:9667, + HGNC_symbol:PTPRCAP ; biolink:category biolink:Gene . OMIM:601578 a owl:Class ; @@ -140967,13 +144885,14 @@ OMIM:601578 a owl:Class ; PMID:8806701, PMID:8954786, PMID:9344652 ; - oboInOwl:hasDbXref UMLS:C1413179 ; oboInOwl:hasExactSynonym "CCNG1", "cyclin g", "cyclin g1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:900 ; - skos:exactMatch HGNC_symbol:CCNG1 ; + skos:exactMatch UMLS:C1413179, + HGNC:1592, + HGNC_symbol:CCNG1 ; biolink:category biolink:Gene . OMIM:601579 a owl:Class ; @@ -140984,27 +144903,29 @@ OMIM:601579 a owl:Class ; PMID:8171019, PMID:8954789, PMID:9426243 ; - oboInOwl:hasDbXref UMLS:C1417921 ; oboInOwl:hasExactSynonym "OAZ1", "antizyme 1", "oaz", "ornithine decarboxylase antizyme 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4946 ; - skos:exactMatch HGNC_symbol:OAZ1 ; + skos:exactMatch UMLS:C1417921, + HGNC:8095, + HGNC_symbol:OAZ1 ; biolink:category biolink:Gene . OMIM:601580 a owl:Class ; rdfs:label "CAPZA1" ; IAO:0000142 PMID:7665558, PMID:9119363 ; - oboInOwl:hasDbXref UMLS:C1413121 ; oboInOwl:hasExactSynonym "CAPZA1", "cap protein, actin, alpha-1 subunit", "capping protein, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:829 ; - skos:exactMatch HGNC_symbol:CAPZA1 ; + skos:exactMatch UMLS:C1413121, + HGNC:1488, + HGNC_symbol:CAPZA1 ; biolink:category biolink:Gene . OMIM:601581 a owl:Class ; @@ -141013,13 +144934,14 @@ OMIM:601581 a owl:Class ; PMID:1512296, PMID:2045418, PMID:8812479 ; - oboInOwl:hasDbXref UMLS:C1334901 ; oboInOwl:hasExactSynonym "NRCAM", "kiaa0343", "neuronal cell adhesion molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4897 ; - skos:exactMatch HGNC_symbol:NRCAM ; + skos:exactMatch UMLS:C1334901, + HGNC:7994, + HGNC_symbol:NRCAM ; biolink:category biolink:Gene . OMIM:601584 a owl:Class ; @@ -141030,7 +144952,6 @@ OMIM:601584 a owl:Class ; PMID:8661118, PMID:9018080, PMID:9514946 ; - oboInOwl:hasDbXref UMLS:C1419089 ; oboInOwl:hasExactSynonym "PTP4A2", "hh13", "hh7-2", @@ -141041,7 +144962,9 @@ OMIM:601584 a owl:Class ; "ptp4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8073 ; - skos:exactMatch HGNC_symbol:PTP4A2 ; + skos:exactMatch UMLS:C1419089, + HGNC:9635, + HGNC_symbol:PTP4A2 ; biolink:category biolink:Gene . OMIM:601585 a owl:Class ; @@ -141051,14 +144974,15 @@ OMIM:601585 a owl:Class ; PMID:9018080, PMID:9514946, PMID:9642300 ; - oboInOwl:hasDbXref UMLS:C1335279 ; oboInOwl:hasExactSynonym "PTP4A1", "phosphatase of regenerating liver 1", "protein-tyrosine phosphatase, iia 4a, 1", "ptp(caax1)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7803 ; - skos:exactMatch HGNC_symbol:PTP4A1 ; + skos:exactMatch UMLS:C1335279, + HGNC:9634, + HGNC_symbol:PTP4A1 ; biolink:category biolink:Gene . OMIM:601586 a owl:Class ; @@ -141081,13 +145005,14 @@ OMIM:601586 a owl:Class ; PMID:8661119, PMID:8862514, PMID:9600059 ; - oboInOwl:hasDbXref UMLS:C1419064 ; oboInOwl:hasExactSynonym "PTGER4", "ep4r", "prostaglandin e receptor 4, ep4 subtype" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5734 ; - skos:exactMatch HGNC_symbol:PTGER4 ; + skos:exactMatch UMLS:C1419064, + HGNC:9596, + HGNC_symbol:PTGER4 ; biolink:category biolink:Gene . OMIM:601587 a owl:Class ; @@ -141105,13 +145030,14 @@ OMIM:601589 a owl:Class ; PMID:26502337, PMID:7935405, PMID:8812506 ; - oboInOwl:hasDbXref UMLS:C1419278 ; oboInOwl:hasExactSynonym "RASA2", "gtpase-activating protein of ras", "ras p21 protein activator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5922 ; - skos:exactMatch HGNC_symbol:RASA2 ; + skos:exactMatch UMLS:C1419278, + HGNC:9872, + HGNC_symbol:RASA2 ; biolink:category biolink:Gene . OMIM:601590 a owl:Class ; @@ -141121,12 +145047,13 @@ OMIM:601590 a owl:Class ; PMID:12366696, PMID:8707850, PMID:8938451 ; - oboInOwl:hasDbXref UMLS:C1414482 ; oboInOwl:hasExactSynonym "EVPL", "envoplakin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2125 ; - skos:exactMatch HGNC_symbol:EVPL ; + skos:exactMatch UMLS:C1414482, + HGNC:3503, + HGNC_symbol:EVPL ; biolink:category biolink:Gene . OMIM:601591 a owl:Class ; @@ -141137,7 +145064,6 @@ OMIM:601591 a owl:Class ; PMID:8953039 ; RO:0002525 CHR:9606chr4q21.21 ; RO:0003303 OMIM:619638 ; - oboInOwl:hasDbXref UMLS:C1418930 ; oboInOwl:hasExactSynonym "PRKG2", "cgk, iia 2", "cgkii", @@ -141145,7 +145071,9 @@ OMIM:601591 a owl:Class ; "protein kinase, cgmp-dependent, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5593 ; - skos:exactMatch HGNC_symbol:PRKG2 ; + skos:exactMatch UMLS:C1418930, + HGNC:9416, + HGNC_symbol:PRKG2 ; biolink:category biolink:Gene . OMIM:601592 a owl:Class ; @@ -141175,13 +145103,14 @@ OMIM:601592 a owl:Class ; PMID:8812503 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:616326 ; - oboInOwl:hasDbXref UMLS:C1419271 ; oboInOwl:hasExactSynonym "RAPSN", "rapsyn", "receptor-associated protein of the synapse, 43-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5913 ; - skos:exactMatch HGNC_symbol:RAPSN ; + skos:exactMatch UMLS:C1419271, + HGNC:9863, + HGNC_symbol:RAPSN ; biolink:category biolink:Gene . OMIM:601593 a owl:Class ; @@ -141201,13 +145130,14 @@ OMIM:601593 a owl:Class ; PMID:9425226 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:114480 ; - oboInOwl:hasDbXref UMLS:C1332381, - UMLS:C3469522 ; oboInOwl:hasExactSynonym "BARD1", "brca1-associated ring domain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:580 ; - skos:exactMatch HGNC_symbol:BARD1 ; + skos:exactMatch UMLS:C1332381, + UMLS:C3469522, + HGNC:952, + HGNC_symbol:BARD1 ; biolink:category biolink:Gene . OMIM:601594 a owl:Class ; @@ -141219,13 +145149,14 @@ OMIM:601594 a owl:Class ; PMID:24856900, PMID:29348366, PMID:8894700 ; - oboInOwl:hasDbXref UMLS:C1416528 ; oboInOwl:hasExactSynonym "JARID2", "jumonji", "jumonji, at-rich interactive domain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3720 ; - skos:exactMatch HGNC_symbol:JARID2 ; + skos:exactMatch UMLS:C1416528, + HGNC:6196, + HGNC_symbol:JARID2 ; biolink:category biolink:Gene . OMIM:601595 a owl:Class ; @@ -141242,8 +145173,6 @@ OMIM:601595 a owl:Class ; PMID:8663601, PMID:8673135, PMID:9393997 ; - oboInOwl:hasDbXref UMLS:C1416962, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "SMAD1", "mad, drosophila, homolog of", "madr1", @@ -141253,7 +145182,10 @@ OMIM:601595 a owl:Class ; "tgf-beta signaling protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4086 ; - skos:exactMatch HGNC_symbol:SMAD1 ; + skos:exactMatch UMLS:C1416962, + UMLS:C2986382, + HGNC:6767, + HGNC_symbol:SMAD1 ; biolink:category biolink:Gene . OMIM:601596 a owl:Class ; @@ -141272,13 +145204,13 @@ OMIM:601596 a owl:Class ; PMID:21291453, PMID:8894708, PMID:9109869 ; - oboInOwl:hasDbXref UMLS:C1866636, - ORPHA:99949 ; oboInOwl:hasExactSynonym "CMT4C", "charcot-marie-tooth disease, iia 4c", "charcot-marie-tooth disease, demyelinating, autosomal recessive, iia 4c", "charcot-marie-tooth neuropathy, iia 4c" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1866636, + ORPHA:99949 ; biolink:category biolink:Disease . OMIM:601597 a owl:Class ; @@ -141291,15 +145223,16 @@ OMIM:601597 a owl:Class ; PMID:32165587, PMID:8891336, PMID:8944033 ; - oboInOwl:hasDbXref UMLS:C1366526, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "BTG2", "b-cell antiproliferation factor 2", "b-cell translocation gene 2", "pheochromocytoma cell 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7832 ; - skos:exactMatch HGNC_symbol:BTG2 ; + skos:exactMatch UMLS:C1366526, + UMLS:C2986382, + HGNC:1131, + HGNC_symbol:BTG2 ; biolink:category biolink:Gene . OMIM:601598 a owl:Class ; @@ -141307,14 +145240,15 @@ OMIM:601598 a owl:Class ; IAO:0000142 PMID:10856223, PMID:2170109, PMID:8355697 ; - oboInOwl:hasDbXref UMLS:C1419114 ; oboInOwl:hasExactSynonym "PTPRD", "protein-tyrosine phosphatase, receptor-type, d", "protein-tyrosine phosphatase, receptor-type, delta", "protein-tyrosine phosphatase-delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5789 ; - skos:exactMatch HGNC_symbol:PTPRD ; + skos:exactMatch UMLS:C1419114, + HGNC:9668, + HGNC_symbol:PTPRD ; biolink:category biolink:Gene . OMIM:601599 a owl:Class ; @@ -141323,7 +145257,6 @@ OMIM:601599 a owl:Class ; PMID:8020969, PMID:8661122, PMID:9395445 ; - oboInOwl:hasDbXref UMLS:C1335865 ; oboInOwl:hasExactSynonym "SSPN", "daga5", "dystrophin-associated glycoprotein, 25-kd", @@ -141333,7 +145266,9 @@ OMIM:601599 a owl:Class ; "spn1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8082 ; - skos:exactMatch HGNC_symbol:SSPN ; + skos:exactMatch UMLS:C1335865, + HGNC:11322, + HGNC_symbol:SSPN ; biolink:category biolink:Gene . OMIM:601600 a owl:Class ; @@ -141345,14 +145280,15 @@ OMIM:601600 a owl:Class ; PMID:8152800, PMID:8661127, PMID:8941378 ; - oboInOwl:hasDbXref UMLS:C1414477 ; oboInOwl:hasExactSynonym "ETV5", "ets variant gene 5", "ets variant transcription factor 5", "ets-related molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2119 ; - skos:exactMatch HGNC_symbol:ETV5 ; + skos:exactMatch UMLS:C1414477, + HGNC:3494, + HGNC_symbol:ETV5 ; biolink:category biolink:Gene . OMIM:601601 a owl:Class ; @@ -141374,12 +145310,13 @@ OMIM:601601 a owl:Class ; PMID:9271117 ; RO:0002525 CHR:9606chr6p12.3 ; RO:0003303 OMIM:617035 ; - oboInOwl:hasDbXref UMLS:C1366502 ; oboInOwl:hasExactSynonym "TFAP2B", "transcription factor ap2-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7021 ; - skos:exactMatch HGNC_symbol:TFAP2B ; + skos:exactMatch UMLS:C1366502, + HGNC:11743, + HGNC_symbol:TFAP2B ; biolink:category biolink:Gene . OMIM:601602 a owl:Class ; @@ -141393,13 +145330,14 @@ OMIM:601602 a owl:Class ; PMID:7846046, PMID:8661133, PMID:9113991 ; - oboInOwl:hasDbXref UMLS:C1336606 ; oboInOwl:hasExactSynonym "TFAP2C", "estrogen receptor factor 1", "transcription factor ap2-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7022 ; - skos:exactMatch HGNC_symbol:TFAP2C ; + skos:exactMatch UMLS:C1336606, + HGNC:11744, + HGNC_symbol:TFAP2C ; biolink:category biolink:Gene . OMIM:601603 a owl:Class ; @@ -141413,13 +145351,14 @@ OMIM:601603 a owl:Class ; PMID:9884330 ; RO:0002525 CHR:9606chr5q35.1 ; RO:0003303 OMIM:619374 ; - oboInOwl:hasDbXref UMLS:C1334333 ; oboInOwl:hasExactSynonym "LCP2", "lymphocyte cytosolic protein 2", "sh2 domain-containing leukocyte protein, 76-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3937 ; - skos:exactMatch HGNC_symbol:LCP2 ; + skos:exactMatch UMLS:C1334333, + HGNC:6529, + HGNC_symbol:LCP2 ; biolink:category biolink:Gene . OMIM:601604 a owl:Class ; @@ -141445,14 +145384,15 @@ OMIM:601604 a owl:Class ; PMID:9603733 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:614891 ; - oboInOwl:hasDbXref UMLS:C1416383 ; oboInOwl:hasExactSynonym "IL12RB1", "cd212", "il12rb", "interleukin 12 receptor, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3594 ; - skos:exactMatch HGNC_symbol:IL12RB1 ; + skos:exactMatch UMLS:C1416383, + HGNC:5971, + HGNC_symbol:IL12RB1 ; biolink:category biolink:Gene . OMIM:601605 a owl:Class ; @@ -141487,12 +145427,6 @@ OMIM:601607 a owl:Class ; PMID:9671307 ; RO:0002525 CHR:9606chr22q11.23 ; RO:0003303 OMIM:162091 ; - oboInOwl:hasDbXref UMLS:C0812273, - UMLS:C1836327, - UMLS:C2750405, - UMLS:C3553248, - UMLS:C4016745, - UMLS:C4048809 ; oboInOwl:hasExactSynonym "SMARCB1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", @@ -141500,15 +145434,22 @@ OMIM:601607 a owl:Class ; "swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6598 ; - skos:exactMatch HGNC_symbol:SMARCB1 ; + skos:exactMatch UMLS:C0812273, + UMLS:C1836327, + UMLS:C2750405, + UMLS:C3553248, + UMLS:C4016745, + UMLS:C4048809, + HGNC:11103, + HGNC_symbol:SMARCB1 ; biolink:category biolink:Gene . OMIM:601608 a owl:Class ; rdfs:label "spastic paraplegia and evans syndrome" ; IAO:0000142 PMID:18143402, PMID:8819560 ; - oboInOwl:hasDbXref UMLS:C1866619 ; - oboInOwl:hasExactSynonym "spastic paraplegia and evans syndrome" . + oboInOwl:hasExactSynonym "spastic paraplegia and evans syndrome" ; + skos:exactMatch UMLS:C1866619 . OMIM:601609 a owl:Class ; rdfs:label "HADH" ; @@ -141530,7 +145471,6 @@ OMIM:601609 a owl:Class ; PMID:9716664 ; RO:0002525 CHR:9606chr4q25 ; RO:0003303 OMIM:609975 ; - oboInOwl:hasDbXref UMLS:C1415458 ; oboInOwl:hasExactSynonym "3-hydroxyacyl-coa dehydrogenase", "HADH", "had", @@ -141539,7 +145479,9 @@ OMIM:601609 a owl:Class ; "schad, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3033 ; - skos:exactMatch HGNC_symbol:HADH ; + skos:exactMatch UMLS:C1415458, + HGNC:4799, + HGNC_symbol:HADH ; biolink:category biolink:Gene . OMIM:601610 a owl:Class ; @@ -141555,13 +145497,14 @@ OMIM:601610 a owl:Class ; PMID:8759115, PMID:8995761, PMID:9382921 ; - oboInOwl:hasDbXref UMLS:C1412842 ; oboInOwl:hasExactSynonym "BTN1A1", "btn", "butyrophilin, subfamily 1, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:696 ; - skos:exactMatch HGNC_symbol:BTN1A1 ; + skos:exactMatch UMLS:C1412842, + HGNC:1135, + HGNC_symbol:BTN1A1 ; biolink:category biolink:Gene . OMIM:601611 a owl:Class ; @@ -141571,7 +145514,6 @@ OMIM:601611 a owl:Class ; PMID:11880324, PMID:15123796, PMID:8647271 ; - oboInOwl:hasDbXref UMLS:C1420099 ; oboInOwl:hasExactSynonym "SLC14A2", "solute carrier family 14 (urea transporter), member 2", "urea transporter 2", @@ -141579,7 +145521,9 @@ OMIM:601611 a owl:Class ; "urea transporter, renal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8170 ; - skos:exactMatch HGNC_symbol:SLC14A2 ; + skos:exactMatch UMLS:C1420099, + HGNC:10919, + HGNC_symbol:SLC14A2 ; biolink:category biolink:Gene . OMIM:601612 a owl:Class ; @@ -141588,10 +145532,10 @@ OMIM:601612 a owl:Class ; PMID:26513515, PMID:3979142, PMID:668422 ; - oboInOwl:hasDbXref UMLS:C3275954 ; oboInOwl:hasExactSynonym "LACHT", "lung agenesis, congenital heart defects, and thumb anomalies syndrome", "mardini-nyhan association" ; + skos:exactMatch UMLS:C3275954 ; biolink:category biolink:Disease . OMIM:601613 a owl:Class ; @@ -141610,13 +145554,14 @@ OMIM:601613 a owl:Class ; PMID:27556942, PMID:8405054, PMID:8978608 ; - oboInOwl:hasDbXref UMLS:C1332421 ; oboInOwl:hasExactSynonym "CXCR5", "burkitt lymphoma receptor 1", "chemokine, cxc motif, receptor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643 ; - skos:exactMatch HGNC_symbol:CXCR5 ; + skos:exactMatch UMLS:C1332421, + HGNC:1060, + HGNC_symbol:CXCR5 ; biolink:category biolink:Gene . OMIM:601614 a owl:Class ; @@ -141656,14 +145601,15 @@ OMIM:601614 a owl:Class ; PMID:9950216 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:618264 ; - oboInOwl:hasDbXref UMLS:C1334908 ; oboInOwl:hasExactSynonym "NTN1", "netrin 1", "netrin 1, mouse, homolog of", "netrin 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9423 ; - skos:exactMatch HGNC_symbol:NTN1 ; + skos:exactMatch UMLS:C1334908, + HGNC:8029, + HGNC_symbol:NTN1 ; biolink:category biolink:Gene . OMIM:601615 a owl:Class ; @@ -141685,7 +145631,6 @@ OMIM:601615 a owl:Class ; PMID:9635425 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:610921 ; - oboInOwl:hasDbXref UMLS:C1412062 ; oboInOwl:hasExactSynonym "ABCA3", "abc transporter 3", "atp-binding cassette 3", @@ -141694,7 +145639,9 @@ OMIM:601615 a owl:Class ; "ced7, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:21 ; - skos:exactMatch HGNC_symbol:ABCA3 ; + skos:exactMatch UMLS:C1412062, + HGNC:33, + HGNC_symbol:ABCA3 ; biolink:category biolink:Gene . OMIM:601616 a owl:Class ; @@ -141702,10 +145649,10 @@ OMIM:601616 a owl:Class ; IAO:0000142 PMID:11860982, PMID:4069592, PMID:8874445 ; - oboInOwl:hasDbXref UMLS:C1866608 ; oboInOwl:hasExactSynonym "cysts of iris pigment epithelium", "iris pigment epithelium anomalies", "ruffles and cysts of iris pigment epithelium" ; + skos:exactMatch UMLS:C1866608 ; biolink:category biolink:Disease . OMIM:601617 a owl:Class ; @@ -141721,14 +145668,15 @@ OMIM:601617 a owl:Class ; PMID:8884265 ; RO:0002525 CHR:9606chr12q13.2 ; RO:0003303 OMIM:136880 ; - oboInOwl:hasDbXref UMLS:C1419328 ; oboInOwl:hasExactSynonym "RDH5", "retinol dehydrogenase 1, formerly", "retinol dehydrogenase 5", "retinol dehydrogenase, 11-cis" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5959 ; - skos:exactMatch HGNC_symbol:RDH5 ; + skos:exactMatch UMLS:C1419328, + HGNC:9940, + HGNC_symbol:RDH5 ; biolink:category biolink:Gene . OMIM:601618 a owl:Class ; @@ -141746,14 +145694,15 @@ OMIM:601618 a owl:Class ; PMID:8884288 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:137940 ; - oboInOwl:hasDbXref UMLS:C1420321, - UMLS:C1843004, - UMLS:C4317151 ; oboInOwl:hasExactSynonym "SOX18", "sry-box 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54345 ; - skos:exactMatch HGNC_symbol:SOX18 ; + skos:exactMatch UMLS:C1420321, + UMLS:C1843004, + UMLS:C4317151, + HGNC:11194, + HGNC_symbol:SOX18 ; biolink:category biolink:Gene . OMIM:601619 a owl:Class ; @@ -141763,12 +145712,13 @@ OMIM:601619 a owl:Class ; PMID:8094051, PMID:8631302, PMID:8849440 ; - oboInOwl:hasDbXref UMLS:C1335588 ; oboInOwl:hasExactSynonym "RALGDS", "ral guanine nucleotide dissociation stimulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5900 ; - skos:exactMatch HGNC_symbol:RALGDS ; + skos:exactMatch UMLS:C1335588, + HGNC:9842, + HGNC_symbol:RALGDS ; biolink:category biolink:Gene . OMIM:601620 a owl:Class ; @@ -141806,14 +145756,15 @@ OMIM:601620 a owl:Class ; PMID:8988165 ; RO:0002525 CHR:9606chr12q24.21 ; RO:0003303 OMIM:142900 ; - oboInOwl:hasDbXref UMLS:C0265264, - UMLS:C1420615 ; oboInOwl:hasExactSynonym "TBX5", "t-box 5", "t-box transcription factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6910 ; - skos:exactMatch HGNC_symbol:TBX5 ; + skos:exactMatch UMLS:C0265264, + UMLS:C1420615, + HGNC:11604, + HGNC_symbol:TBX5 ; biolink:category biolink:Gene . OMIM:601621 a owl:Class ; @@ -141841,14 +145792,15 @@ OMIM:601621 a owl:Class ; PMID:9207801 ; RO:0002525 CHR:9606chr12q24.21 ; RO:0003303 OMIM:181450 ; - oboInOwl:hasDbXref UMLS:C1420613, - UMLS:C1866994 ; oboInOwl:hasExactSynonym "TBX3", "t-box 3", "t-box transcription factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6926 ; - skos:exactMatch HGNC_symbol:TBX3 ; + skos:exactMatch UMLS:C1420613, + UMLS:C1866994, + HGNC:11602, + HGNC_symbol:TBX3 ; biolink:category biolink:Gene . OMIM:601622 a owl:Class ; @@ -141897,14 +145849,15 @@ OMIM:601622 a owl:Class ; PMID:9934984 ; RO:0002525 CHR:9606chr7p21.1 ; RO:0003303 OMIM:617746 ; - oboInOwl:hasDbXref UMLS:C1421244 ; oboInOwl:hasExactSynonym "TWIST1", "transcription factor twist", "twist family bhlh transcription factor 1", "twist, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7291 ; - skos:exactMatch HGNC_symbol:TWIST1 ; + skos:exactMatch UMLS:C1421244, + HGNC:12428, + HGNC_symbol:TWIST1 ; biolink:category biolink:Gene . OMIM:601623 a owl:Class ; @@ -141952,14 +145905,15 @@ OMIM:601623 a owl:Class ; PMID:9887341 ; RO:0002525 CHR:9606chr15q11.2 ; RO:0003303 OMIM:105830 ; - oboInOwl:hasDbXref UMLS:C0162635, - UMLS:C1421293 ; oboInOwl:hasExactSynonym "UBE3A", "human papillomavirus e6-associated protein", "ubiquitin-protein ligase e3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7337 ; - skos:exactMatch HGNC_symbol:UBE3A ; + skos:exactMatch UMLS:C0162635, + UMLS:C1421293, + HGNC:12496, + HGNC_symbol:UBE3A ; biolink:category biolink:Gene . OMIM:601624 a owl:Class ; @@ -141968,7 +145922,6 @@ OMIM:601624 a owl:Class ; PMID:23150716, PMID:8576206, PMID:8884275 ; - oboInOwl:hasDbXref UMLS:C1414560 ; oboInOwl:hasExactSynonym "FCN2", "collagen/fibrinogen domain-containing lectin 2 p35", "ficolin 2", @@ -141976,7 +145929,9 @@ OMIM:601624 a owl:Class ; "opsonin p35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2220 ; - skos:exactMatch HGNC_symbol:FCN2 ; + skos:exactMatch UMLS:C1414560, + HGNC:3624, + HGNC_symbol:FCN2 ; biolink:category biolink:Gene . OMIM:601627 a owl:Class ; @@ -142023,14 +145978,15 @@ OMIM:601627 a owl:Class ; PMID:9585359 ; RO:0002525 CHR:9606chr5q13.2 ; RO:0003303 OMIM:253400 ; - oboInOwl:hasDbXref UMLS:C1420258 ; oboInOwl:hasExactSynonym "SMN2", "c-bcd541", "survival of motor neuron 2", "survival of motor neuron, centromeric copy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6607 ; - skos:exactMatch HGNC_symbol:SMN2 ; + skos:exactMatch UMLS:C1420258, + HGNC:11118, + HGNC_symbol:SMN2 ; biolink:category biolink:Gene . OMIM:601628 a owl:Class ; @@ -142043,13 +145999,14 @@ OMIM:601629 a owl:Class ; PMID:8914602, PMID:8931698, PMID:9345904 ; - oboInOwl:hasDbXref UMLS:C1418387 ; oboInOwl:hasExactSynonym "PCP4", "pep19", "purkinje cell protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5121 ; - skos:exactMatch HGNC_symbol:PCP4 ; + skos:exactMatch UMLS:C1418387, + HGNC:8742, + HGNC_symbol:PCP4 ; biolink:category biolink:Gene . OMIM:601631 a owl:Class ; @@ -142075,8 +146032,6 @@ OMIM:601631 a owl:Class ; PMID:9382099, PMID:9620769, PMID:9792859 ; - oboInOwl:hasDbXref UMLS:C1839928, - UMLS:C1866560 ; oboInOwl:hasExactSynonym "ASGD3", "anterior segment dysgenesis 3", "glaucoma iridogoniodysplasia, familial", @@ -142084,6 +146039,8 @@ OMIM:601631 a owl:Class ; "iridogoniodysgenesis, iia 1", "iris hypoplasia with glaucoma" ; rdfs:subClassOf OMIMPS:107250 ; + skos:exactMatch UMLS:C1839928, + UMLS:C1866560 ; biolink:category biolink:Disease . OMIM:601632 a owl:Class ; @@ -142103,14 +146060,15 @@ OMIM:601632 a owl:Class ; PMID:8995448 ; RO:0002525 CHR:9606chr13q31.1 ; RO:0003303 OMIM:619352 ; - oboInOwl:hasDbXref UMLS:C1418765 ; oboInOwl:hasExactSynonym "POU4F1", "brn3.0, mouse, homolog of", "pou domain, class 4, transcription factor 1", "pou-domain transcription factor brn3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5457 ; - skos:exactMatch HGNC_symbol:POU4F1 ; + skos:exactMatch UMLS:C1418765, + HGNC:9218, + HGNC_symbol:POU4F1 ; biolink:category biolink:Gene . OMIM:601633 a owl:Class ; @@ -142123,12 +146081,13 @@ OMIM:601633 a owl:Class ; PMID:8875895 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:619340 ; - oboInOwl:hasDbXref UMLS:C1417857 ; oboInOwl:hasExactSynonym "NSF", "n-ethylmaleimide-sensitive factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4905 ; - skos:exactMatch HGNC_symbol:NSF ; + skos:exactMatch UMLS:C1417857, + HGNC:8016, + HGNC_symbol:NSF ; biolink:category biolink:Gene . OMIM:601635 a owl:Class ; @@ -142144,12 +146103,13 @@ OMIM:601636 a owl:Class ; PMID:8798477, PMID:8798545, PMID:9169154 ; - oboInOwl:hasDbXref UMLS:C1415475 ; oboInOwl:hasExactSynonym "HAS2", "hyaluronan synthase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3037 ; - skos:exactMatch HGNC_symbol:HAS2 ; + skos:exactMatch UMLS:C1415475, + HGNC:4819, + HGNC_symbol:HAS2 ; biolink:category biolink:Gene . OMIM:601637 a owl:Class ; @@ -142162,14 +146122,15 @@ OMIM:601637 a owl:Class ; PMID:30046109, PMID:8619637, PMID:8975714 ; - oboInOwl:hasDbXref UMLS:C1413892 ; oboInOwl:hasExactSynonym "CYP51A1", "cyp51", "cytochrome p450, family 51, subfamily a, polypeptide 1", "lanosterol 14-alpha-demethylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1595 ; - skos:exactMatch HGNC_symbol:CYP51A1 ; + skos:exactMatch UMLS:C1413892, + HGNC:2649, + HGNC_symbol:CYP51A1 ; biolink:category biolink:Gene . OMIM:601638 a owl:Class ; @@ -142180,14 +146141,15 @@ OMIM:601638 a owl:Class ; PMID:8106346, PMID:8670882, PMID:9038142 ; - oboInOwl:hasDbXref UMLS:C1424785 ; oboInOwl:hasExactSynonym "ARFIP2", "adp-ribosylation factor-interacting protein 2", "arfaptin 2", "partner of rac1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23647 ; - skos:exactMatch HGNC_symbol:ARFIP2 ; + skos:exactMatch UMLS:C1424785, + HGNC:17160, + HGNC_symbol:ARFIP2 ; biolink:category biolink:Gene . OMIM:601639 a owl:Class ; @@ -142207,16 +146169,17 @@ OMIM:601639 a owl:Class ; PMID:8884279 ; RO:0002525 CHR:9606chr19p13.12 ; RO:0003303 OMIM:615830 ; - oboInOwl:hasDbXref UMLS:C1418901, - UMLS:C4014425, - UMLS:C5436885 ; oboInOwl:hasExactSynonym "PRKACA", "prkaca/dnajb1 fusion gene", "protein kinase a, c-alpha subunit", "protein kinase, camp-dependent, catalytic, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5566 ; - skos:exactMatch HGNC_symbol:PRKACA ; + skos:exactMatch UMLS:C1418901, + UMLS:C4014425, + UMLS:C5436885, + HGNC:9380, + HGNC_symbol:PRKACA ; biolink:category biolink:Gene . OMIM:601640 a owl:Class ; @@ -142232,14 +146195,15 @@ OMIM:601641 a owl:Class ; PMID:9070889 ; RO:0002525 CHR:9606chr3p14.3 ; RO:0003303 OMIM:617308 ; - oboInOwl:hasDbXref UMLS:C1412129 ; oboInOwl:hasExactSynonym "ACOX2", "acyl-coa oxidase 2, branched-chain", "acyl-coa oxidase, branched-chain, peroxisomal", "branched-chain acyl-coa oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8309 ; - skos:exactMatch HGNC_symbol:ACOX2 ; + skos:exactMatch UMLS:C1412129, + HGNC:120, + HGNC_symbol:ACOX2 ; biolink:category biolink:Gene . OMIM:601642 a owl:Class ; @@ -142253,12 +146217,13 @@ OMIM:601642 a owl:Class ; PMID:8943050, PMID:9284929, PMID:9605872 ; - oboInOwl:hasDbXref UMLS:C1416384 ; oboInOwl:hasExactSynonym "IL12RB2", "interleukin 12 receptor, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3595 ; - skos:exactMatch HGNC_symbol:IL12RB2 ; + skos:exactMatch UMLS:C1416384, + HGNC:5972, + HGNC_symbol:IL12RB2 ; biolink:category biolink:Gene . OMIM:601643 a owl:Class ; @@ -142266,12 +146231,13 @@ OMIM:601643 a owl:Class ; IAO:0000142 PMID:7592815, PMID:8703017, PMID:8812429 ; - oboInOwl:hasDbXref UMLS:C1418842 ; oboInOwl:hasExactSynonym "PPP2R5A", "protein phosphatase 2, regulatory subunit B (b56), alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5525 ; - skos:exactMatch HGNC_symbol:PPP2R5A ; + skos:exactMatch UMLS:C1418842, + HGNC:9309, + HGNC_symbol:PPP2R5A ; biolink:category biolink:Gene . OMIM:601644 a owl:Class ; @@ -142282,12 +146248,13 @@ OMIM:601644 a owl:Class ; PMID:7592815, PMID:8812429, PMID:9272177 ; - oboInOwl:hasDbXref UMLS:C1418843 ; oboInOwl:hasExactSynonym "PPP2R5B", "protein phosphatase 2, regulatory subunit B (b56), beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5526 ; - skos:exactMatch HGNC_symbol:PPP2R5B ; + skos:exactMatch UMLS:C1418843, + HGNC:9310, + HGNC_symbol:PPP2R5B ; biolink:category biolink:Gene . OMIM:601645 a owl:Class ; @@ -142297,12 +146264,13 @@ OMIM:601645 a owl:Class ; PMID:25972378, PMID:7592815, PMID:8812429 ; - oboInOwl:hasDbXref UMLS:C1418844 ; oboInOwl:hasExactSynonym "PPP2R5C", "protein phosphatase 2, regulatory subunit B (b56), gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5527 ; - skos:exactMatch HGNC_symbol:PPP2R5C ; + skos:exactMatch UMLS:C1418844, + HGNC:9311, + HGNC_symbol:PPP2R5C ; biolink:category biolink:Gene . OMIM:601646 a owl:Class ; @@ -142315,24 +146283,26 @@ OMIM:601646 a owl:Class ; PMID:8812429 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:616355 ; - oboInOwl:hasDbXref UMLS:C1335248 ; oboInOwl:hasExactSynonym "PPP2R5D", "protein phosphatase 2, regulatory subunit B (b56), delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5528 ; - skos:exactMatch HGNC_symbol:PPP2R5D ; + skos:exactMatch UMLS:C1335248, + HGNC:9312, + HGNC_symbol:PPP2R5D ; biolink:category biolink:Gene . OMIM:601647 a owl:Class ; rdfs:label "PPP2R5E" ; IAO:0000142 PMID:8703017, PMID:8812429 ; - oboInOwl:hasDbXref UMLS:C1335249 ; oboInOwl:hasExactSynonym "PPP2R5E", "protein phosphatase 2, regulatory subunit B (b56), epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5529 ; - skos:exactMatch HGNC_symbol:PPP2R5E ; + skos:exactMatch UMLS:C1335249, + HGNC:9313, + HGNC_symbol:PPP2R5E ; biolink:category biolink:Gene . OMIM:601648 a owl:Class ; @@ -142344,14 +146314,15 @@ OMIM:601648 a owl:Class ; PMID:8125911, PMID:8641424, PMID:9488668 ; - oboInOwl:hasDbXref UMLS:C1419034 ; oboInOwl:hasExactSynonym "PSMD4", "protease 26s, subunit 5a", "proteasome 26s subunit, non-atpase, 4", "rpn10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5710 ; - skos:exactMatch HGNC_symbol:PSMD4 ; + skos:exactMatch UMLS:C1419034, + HGNC:9561, + HGNC_symbol:PSMD4 ; biolink:category biolink:Gene . OMIM:601649 a owl:Class ; @@ -142363,14 +146334,15 @@ OMIM:601651 a owl:Class ; IAO:0000142 PMID:18281699, PMID:8923002, PMID:9325046 ; - oboInOwl:hasDbXref UMLS:C1417598 ; oboInOwl:hasExactSynonym "NAP1L4", "nap2", "nucleosome assembly protein 1-like 4", "nucleosome assembly protein 2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4676 ; - skos:exactMatch HGNC_symbol:NAP1L4 ; + skos:exactMatch UMLS:C1417598, + HGNC:7640, + HGNC_symbol:NAP1L4 ; biolink:category biolink:Gene . OMIM:601652 a owl:Class ; @@ -142435,17 +146407,18 @@ OMIM:601652 a owl:Class ; PMID:9792882 ; RO:0002525 CHR:9606chr1q24.3 ; RO:0003303 OMIM:137750 ; - oboInOwl:hasDbXref UMLS:C1417573, - UMLS:C1842028, - UMLS:C1866550, - UMLS:C4016749, - UMLS:C4016750 ; oboInOwl:hasExactSynonym "MYOC", "myocilin", "trabecular meshwork-induced glucocorticoid response protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4653 ; - skos:exactMatch HGNC_symbol:MYOC ; + skos:exactMatch UMLS:C1417573, + UMLS:C1842028, + UMLS:C1866550, + UMLS:C4016749, + UMLS:C4016750, + HGNC:7610, + HGNC_symbol:MYOC ; biolink:category biolink:Gene . OMIM:601653 a owl:Class ; @@ -142484,14 +146457,15 @@ OMIM:601653 a owl:Class ; PMID:9603436 ; RO:0002525 CHR:9606chr8q13.3 ; RO:0003303 OMIM:113650 ; - oboInOwl:hasDbXref UMLS:C1414490 ; oboInOwl:hasExactSynonym "EYA1", "eya transcriptional coactivator and phosphatase 1", "eyes absent 1", "eyes absent, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2138 ; - skos:exactMatch HGNC_symbol:EYA1 ; + skos:exactMatch UMLS:C1414490, + HGNC:3519, + HGNC_symbol:EYA1 ; biolink:category biolink:Gene . OMIM:601654 a owl:Class ; @@ -142502,14 +146476,15 @@ OMIM:601654 a owl:Class ; PMID:9049631, PMID:9195991, PMID:9342347 ; - oboInOwl:hasDbXref UMLS:C1414491 ; oboInOwl:hasExactSynonym "EYA2", "eya transcriptional coactivator and phosphatase 2", "eyes absent 2", "eyes absent, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2139 ; - skos:exactMatch HGNC_symbol:EYA2 ; + skos:exactMatch UMLS:C1414491, + HGNC:3520, + HGNC_symbol:EYA2 ; biolink:category biolink:Gene . OMIM:601655 a owl:Class ; @@ -142517,14 +146492,15 @@ OMIM:601655 a owl:Class ; IAO:0000142 PMID:9020840, PMID:9049631, PMID:9342347 ; - oboInOwl:hasDbXref UMLS:C1414492 ; oboInOwl:hasExactSynonym "EYA3", "eya transcriptional coactivator and phosphatase 3", "eyes absent 3", "eyes absent, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2140 ; - skos:exactMatch HGNC_symbol:EYA3 ; + skos:exactMatch UMLS:C1414492, + HGNC:3521, + HGNC_symbol:EYA3 ; biolink:category biolink:Gene . OMIM:601656 a owl:Class ; @@ -142546,25 +146522,27 @@ OMIM:601656 a owl:Class ; PMID:9832509 ; RO:0002525 CHR:9606chr18q11.2 ; RO:0003303 OMIM:187500 ; - oboInOwl:hasDbXref UMLS:C1414996 ; oboInOwl:hasExactSynonym "GATA6", "gata-binding protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2627 ; - skos:exactMatch HGNC_symbol:GATA6 ; + skos:exactMatch UMLS:C1414996, + HGNC:4174, + HGNC_symbol:GATA6 ; biolink:category biolink:Gene . OMIM:601657 a owl:Class ; rdfs:label "EPYC" ; IAO:0000142 PMID:6874690, PMID:8975717 ; - oboInOwl:hasDbXref UMLS:C1825058 ; oboInOwl:hasExactSynonym "EPYC", "dermatan sulfate proteoglycan 3", "epiphycan" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1833 ; - skos:exactMatch HGNC_symbol:EPYC ; + skos:exactMatch UMLS:C1825058, + HGNC:3053, + HGNC_symbol:EPYC ; biolink:category biolink:Gene . OMIM:601658 a owl:Class ; @@ -142574,13 +146552,14 @@ OMIM:601658 a owl:Class ; PMID:8975724, PMID:9027484, PMID:9860971 ; - oboInOwl:hasDbXref UMLS:C1417924 ; oboInOwl:hasExactSynonym "OC90", "otoconin 90", "pla2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729330 ; - skos:exactMatch HGNC_symbol:OC90 ; + skos:exactMatch UMLS:C1417924, + HGNC:8100, + HGNC_symbol:OC90 ; biolink:category biolink:Gene . OMIM:601660 a owl:Class ; @@ -142602,13 +146581,14 @@ OMIM:601661 a owl:Class ; PMID:8798754, PMID:9067428, PMID:9920803 ; - oboInOwl:hasDbXref UMLS:C1421283 ; oboInOwl:hasExactSynonym "UBE2I", "ubiquitin-conjugating enzyme e2i", "ubiquitin-conjugating enzyme ubc9, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7329 ; - skos:exactMatch HGNC_symbol:UBE2I ; + skos:exactMatch UMLS:C1421283, + HGNC:12485, + HGNC_symbol:UBE2I ; biolink:category biolink:Gene . OMIM:601662 a owl:Class ; @@ -142617,13 +146597,14 @@ OMIM:601662 a owl:Class ; PMID:15528349, PMID:7760007, PMID:8823162 ; - oboInOwl:hasDbXref UMLS:C1332075 ; oboInOwl:hasExactSynonym "ALCAM", "activated leukocyte cell adhesion molecule", "cd166" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:214 ; - skos:exactMatch HGNC_symbol:ALCAM ; + skos:exactMatch UMLS:C1332075, + HGNC:400, + HGNC_symbol:ALCAM ; biolink:category biolink:Gene . OMIM:601663 a owl:Class ; @@ -142681,9 +146662,6 @@ OMIM:601663 a owl:Class ; PMID:9861029 ; RO:0002525 CHR:9606chr14q23.2-q23.3 ; RO:0003303 OMIM:618187 ; - oboInOwl:hasDbXref UMLS:C1414462, - UMLS:C2986382, - UMLS:C4748626 ; oboInOwl:hasExactSynonym "ESR2", "er-beta", "esr-beta", @@ -142691,7 +146669,11 @@ OMIM:601663 a owl:Class ; "estrogen receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2100 ; - skos:exactMatch HGNC_symbol:ESR2 ; + skos:exactMatch UMLS:C1414462, + UMLS:C2986382, + UMLS:C4748626, + HGNC:3468, + HGNC_symbol:ESR2 ; biolink:category biolink:Gene . OMIM:601664 a owl:Class ; @@ -142708,8 +146690,6 @@ OMIM:601664 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:610359 ; - oboInOwl:hasDbXref UMLS:C1540207, - UMLS:C1835895 ; oboInOwl:hasExactSynonym "SNRNP200", "activating signal cointegrator 1 complex subunit 3-like 1", "brr2, yeast, homolog of", @@ -142719,7 +146699,10 @@ OMIM:601664 a owl:Class ; "u5-200kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23020 ; - skos:exactMatch HGNC_symbol:SNRNP200 ; + skos:exactMatch UMLS:C1540207, + UMLS:C1835895, + HGNC:30859, + HGNC_symbol:SNRNP200 ; biolink:category biolink:Gene . OMIM:601667 a owl:Class ; @@ -142746,21 +146729,22 @@ OMIM:601667 a owl:Class ; PMID:9774272 ; RO:0002525 CHR:9606chr8q23.1 ; RO:0003303 OMIM:619361 ; - oboInOwl:hasDbXref UMLS:C1332088 ; oboInOwl:hasExactSynonym "ANGPT1", "ang1", "angiopoietin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284 ; - skos:exactMatch HGNC_symbol:ANGPT1 ; + skos:exactMatch UMLS:C1332088, + HGNC:484, + HGNC_symbol:ANGPT1 ; biolink:category biolink:Gene . OMIM:601668 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with abnormal dentition" ; IAO:0000142 PMID:9018411 ; - oboInOwl:hasDbXref UMLS:C1866507 ; oboInOwl:hasExactSynonym "SEMDAD", - "spondyloepimetaphyseal dysplasia with abnormal dentition" . + "spondyloepimetaphyseal dysplasia with abnormal dentition" ; + skos:exactMatch UMLS:C1866507 . OMIM:601669 a owl:Class ; IAO:0100001 OMIM:602229 ; @@ -142769,14 +146753,15 @@ OMIM:601669 a owl:Class ; OMIM:601670 a owl:Class ; rdfs:label "DPF1" ; IAO:0000142 PMID:8812431 ; - oboInOwl:hasDbXref UMLS:C1426788 ; oboInOwl:hasExactSynonym "DPF1", "brg1-associated factor, 45-kd, B", "d4, zinc, and double phd fingers family, member 1", "neuro-d4, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8193 ; - skos:exactMatch HGNC_symbol:DPF1 ; + skos:exactMatch UMLS:C1426788, + HGNC:20225, + HGNC_symbol:DPF1 ; biolink:category biolink:Gene . OMIM:601671 a owl:Class ; @@ -142787,14 +146772,15 @@ OMIM:601671 a owl:Class ; PMID:9680388 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:618027 ; - oboInOwl:hasDbXref UMLS:C1419344 ; oboInOwl:hasExactSynonym "DPF2", "d4, zinc, and double phd fingers family, member 2", "requiem, apoptosis response zinc finger gene", "ubi-d4/requiem homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5977 ; - skos:exactMatch HGNC_symbol:DPF2 ; + skos:exactMatch UMLS:C1419344, + HGNC:9964, + HGNC_symbol:DPF2 ; biolink:category biolink:Gene . OMIM:601672 a owl:Class ; @@ -142803,13 +146789,14 @@ OMIM:601672 a owl:Class ; PMID:18765789, PMID:20613843, PMID:8812431 ; - oboInOwl:hasDbXref UMLS:C1424962 ; oboInOwl:hasExactSynonym "DPF3", "cer-d4, mouse, homolog of", "d4, zinc, and double phd fingers family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8110 ; - skos:exactMatch HGNC_symbol:DPF3 ; + skos:exactMatch UMLS:C1424962, + HGNC:17427, + HGNC_symbol:DPF3 ; biolink:category biolink:Gene . OMIM:601673 a owl:Class ; @@ -142818,7 +146805,6 @@ OMIM:601673 a owl:Class ; PMID:8158249, PMID:8812435, PMID:9344654 ; - oboInOwl:hasDbXref UMLS:C1414372 ; oboInOwl:hasExactSynonym "ELAVL2", "elav-like rna-binding protein 2", "embryonic lethal, abnormal vision, drosophila, homolog-like 2", @@ -142826,7 +146812,9 @@ OMIM:601673 a owl:Class ; "hu-antigen B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1993 ; - skos:exactMatch HGNC_symbol:ELAVL2 ; + skos:exactMatch UMLS:C1414372, + HGNC:3313, + HGNC_symbol:ELAVL2 ; biolink:category biolink:Gene . OMIM:601674 a owl:Class ; @@ -142838,13 +146826,14 @@ OMIM:601674 a owl:Class ; PMID:25680957, PMID:29342143, PMID:8921387 ; - oboInOwl:hasDbXref UMLS:C1414496 ; oboInOwl:hasExactSynonym "EZH1", "enhancer of zeste 1 polycomb repressive complex 2 subunit", "enhancer of zeste, drosophila, homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2145 ; - skos:exactMatch HGNC_symbol:EZH1 ; + skos:exactMatch UMLS:C1414496, + HGNC:3526, + HGNC_symbol:EZH1 ; biolink:category biolink:Gene . OMIM:601677 a owl:Class ; @@ -142853,7 +146842,6 @@ OMIM:601677 a owl:Class ; PMID:24154540, PMID:9021153, PMID:9048877 ; - oboInOwl:hasDbXref UMLS:C1417625 ; oboInOwl:hasExactSynonym "NDUFA5", "b13", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex, 5", @@ -142861,7 +146849,9 @@ OMIM:601677 a owl:Class ; "nadh-ubiquinone oxidoreductase, subunit b13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4698 ; - skos:exactMatch HGNC_symbol:NDUFA5 ; + skos:exactMatch UMLS:C1417625, + HGNC:7688, + HGNC_symbol:NDUFA5 ; biolink:category biolink:Gene . OMIM:601679 a owl:Class ; @@ -142880,7 +146870,6 @@ OMIM:601679 a owl:Class ; PMID:9012831, PMID:9384587, PMID:9466987 ; - oboInOwl:hasDbXref UMLS:C1415347 ; oboInOwl:hasExactSynonym "GTF2I", "bruton tyrosine kinase-associated protein 135", "btk-associated protein, 135-kd", @@ -142888,7 +146877,9 @@ OMIM:601679 a owl:Class ; "tfii-i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2969 ; - skos:exactMatch HGNC_symbol:GTF2I ; + skos:exactMatch UMLS:C1415347, + HGNC:4659, + HGNC_symbol:GTF2I ; biolink:category biolink:Gene . OMIM:601681 a owl:Class ; @@ -142897,13 +146888,14 @@ OMIM:601681 a owl:Class ; PMID:7870181, PMID:9048938, PMID:9473509 ; - oboInOwl:hasDbXref UMLS:C1419025 ; oboInOwl:hasExactSynonym "PSMC5", "proteasome 26s subunit, atpase, 5", "thyroid hormone receptor interactor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5705 ; - skos:exactMatch HGNC_symbol:PSMC5 ; + skos:exactMatch UMLS:C1419025, + HGNC:9552, + HGNC_symbol:PSMC5 ; biolink:category biolink:Gene . OMIM:601683 a owl:Class ; @@ -142917,14 +146909,15 @@ OMIM:601683 a owl:Class ; PMID:9452453 ; RO:0002525 CHR:9606chr16p12.3 ; RO:0003303 OMIM:616733 ; - oboInOwl:hasDbXref UMLS:C1413616 ; oboInOwl:hasExactSynonym "COQ7", "clk1, c. elegans, homolog of", "coenzyme q7, hydroxylase", "coq7, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10229 ; - skos:exactMatch HGNC_symbol:COQ7 ; + skos:exactMatch UMLS:C1413616, + HGNC:2244, + HGNC_symbol:COQ7 ; biolink:category biolink:Gene . OMIM:601684 a owl:Class ; @@ -142937,7 +146930,6 @@ OMIM:601684 a owl:Class ; PMID:17410129, PMID:17410130, PMID:8141249 ; - oboInOwl:hasDbXref UMLS:C1419742 ; oboInOwl:hasExactSynonym "RPS6KA1", "mapkap kinase 1a", "mitogen-activated protein kinase-activated protein kinase 1a", @@ -142946,7 +146938,9 @@ OMIM:601684 a owl:Class ; "ribosomal s6 kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6195 ; - skos:exactMatch HGNC_symbol:RPS6KA1 ; + skos:exactMatch UMLS:C1419742, + HGNC:10430, + HGNC_symbol:RPS6KA1 ; biolink:category biolink:Gene . OMIM:601685 a owl:Class ; @@ -142954,7 +146948,6 @@ OMIM:601685 a owl:Class ; IAO:0000142 PMID:12393804, PMID:7623830, PMID:8141249 ; - oboInOwl:hasDbXref UMLS:C1419743 ; oboInOwl:hasExactSynonym "RPS6KA2", "mapkap kinase 1c", "mitogen-activated protein kinase-activated protein kinase 1c", @@ -142963,7 +146956,9 @@ OMIM:601685 a owl:Class ; "ribosomal s6 kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6196 ; - skos:exactMatch HGNC_symbol:RPS6KA2 ; + skos:exactMatch UMLS:C1419743, + HGNC:10431, + HGNC_symbol:RPS6KA2 ; biolink:category biolink:Gene . OMIM:601686 a owl:Class ; @@ -142971,13 +146966,14 @@ OMIM:601686 a owl:Class ; IAO:0000142 PMID:10551828, PMID:9020079, PMID:9403057 ; - oboInOwl:hasDbXref UMLS:C1336603 ; oboInOwl:hasExactSynonym "TEP1", "telomerase protein component 1", "telomerase-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7011 ; - skos:exactMatch HGNC_symbol:TEP1 ; + skos:exactMatch UMLS:C1336603, + HGNC:11726, + HGNC_symbol:TEP1 ; biolink:category biolink:Gene . OMIM:601687 a owl:Class ; @@ -142993,8 +146989,6 @@ OMIM:601687 a owl:Class ; PMID:9399908 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:122100 ; - oboInOwl:hasDbXref UMLS:C1416715, - UMLS:C5231499 ; oboInOwl:hasExactSynonym "KRT12", "cytokeratin 12", "k12", @@ -143002,7 +146996,10 @@ OMIM:601687 a owl:Class ; "keratin 12, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3859 ; - skos:exactMatch HGNC_symbol:KRT12 ; + skos:exactMatch UMLS:C1416715, + UMLS:C5231499, + HGNC:6414, + HGNC_symbol:KRT12 ; biolink:category biolink:Gene . OMIM:601688 a owl:Class ; @@ -143022,17 +147019,18 @@ OMIM:601688 a owl:Class ; PMID:9402870 ; RO:0002525 CHR:9606chr4q34.1 ; RO:0003303 OMIM:259100 ; - oboInOwl:hasDbXref UMLS:C0345408, - UMLS:C1415699, - UMLS:C2678439, - UMLS:C4551679 ; oboInOwl:hasExactSynonym "15-hydroxyprostaglandin dehydrogenase", "15-hydroxyprostaglandin dehydrogenase, iia 1", "HPGD", "pgdh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3248 ; - skos:exactMatch HGNC_symbol:HPGD ; + skos:exactMatch UMLS:C0345408, + UMLS:C1415699, + UMLS:C2678439, + UMLS:C4551679, + HGNC:5154, + HGNC_symbol:HPGD ; biolink:category biolink:Gene . OMIM:601689 a owl:Class ; @@ -143044,15 +147042,16 @@ OMIM:601689 a owl:Class ; PMID:8858156 ; RO:0002525 CHR:9606chr18q11.2 ; RO:0003303 OMIM:615841 ; - oboInOwl:hasDbXref UMLS:C1420572, - UMLS:C4014449 ; oboInOwl:hasExactSynonym "TAF4B", "taf4b RNA polymerase ii, tata box-binding protein-associated factor, 105-kd", "tata box-binding protein-associated factor c2", "tbp-associated factor, RNA polymerase ii, 105-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6875 ; - skos:exactMatch HGNC_symbol:TAF4B ; + skos:exactMatch UMLS:C1420572, + UMLS:C4014449, + HGNC:11538, + HGNC_symbol:TAF4B ; biolink:category biolink:Gene . OMIM:601690 a owl:Class ; @@ -143078,7 +147077,6 @@ OMIM:601690 a owl:Class ; PMID:9700192 ; RO:0002525 CHR:9606chr6p12.3 ; RO:0003303 OMIM:147050 ; - oboInOwl:hasDbXref UMLS:C1418625 ; oboInOwl:hasExactSynonym "PLA2G7", "ldl-pla2", "lipoprotein-associated phospholipase a2", @@ -143088,7 +147086,9 @@ OMIM:601690 a owl:Class ; "platelet-activating factor acetylhydrolase, plasma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7941 ; - skos:exactMatch HGNC_symbol:PLA2G7 ; + skos:exactMatch UMLS:C1418625, + HGNC:9040, + HGNC_symbol:PLA2G7 ; biolink:category biolink:Gene . OMIM:601691 a owl:Class ; @@ -143148,13 +147148,6 @@ OMIM:601691 a owl:Class ; PMID:9973280 ; RO:0002525 CHR:9606chr1p22.1 ; RO:0003303 OMIM:153800 ; - oboInOwl:hasDbXref UMLS:C0271093, - UMLS:C1412063, - UMLS:C1855465, - UMLS:C1858080, - UMLS:C1858806, - UMLS:C1866422, - UMLS:C1970573 ; oboInOwl:hasExactSynonym "ABCA4", "abc transporter, retina-specific", "atp-binding cassette transporter, retina-specific", @@ -143162,7 +147155,15 @@ OMIM:601691 a owl:Class ; "photoreceptor rim protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24 ; - skos:exactMatch HGNC_symbol:ABCA4 ; + skos:exactMatch UMLS:C0271093, + UMLS:C1412063, + UMLS:C1855465, + UMLS:C1858080, + UMLS:C1858806, + UMLS:C1866422, + UMLS:C1970573, + HGNC:34, + HGNC_symbol:ABCA4 ; biolink:category biolink:Gene . OMIM:601692 a owl:Class ; @@ -143196,21 +147197,22 @@ OMIM:601692 a owl:Class ; PMID:9930165 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:608471 ; - oboInOwl:hasDbXref UMLS:C0339278, - UMLS:C0521723, - UMLS:C1275685, - UMLS:C1336623, - UMLS:C1562894, - UMLS:C1641846, - UMLS:C1690006, - UMLS:C1837974 ; oboInOwl:hasExactSynonym "TGFBI", "beta-ig-h3", "keratoepithelin", "transforming growth factor, beta-induced, 68-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7045 ; - skos:exactMatch HGNC_symbol:TGFBI ; + skos:exactMatch UMLS:C0339278, + UMLS:C0521723, + UMLS:C1275685, + UMLS:C1336623, + UMLS:C1562894, + UMLS:C1641846, + UMLS:C1690006, + UMLS:C1837974, + HGNC:11771, + HGNC_symbol:TGFBI ; biolink:category biolink:Gene . OMIM:601693 a owl:Class ; @@ -143240,12 +147242,13 @@ OMIM:601693 a owl:Class ; PMID:9700198 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:607447 ; - oboInOwl:hasDbXref UMLS:C1421314 ; oboInOwl:hasExactSynonym "UCP2", "uncoupling protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7351 ; - skos:exactMatch HGNC_symbol:UCP2 ; + skos:exactMatch UMLS:C1421314, + HGNC:12518, + HGNC_symbol:UCP2 ; biolink:category biolink:Gene . OMIM:601695 a owl:Class ; @@ -143256,7 +147259,6 @@ OMIM:601695 a owl:Class ; PMID:8863730, PMID:9050925, PMID:9096114 ; - oboInOwl:hasDbXref UMLS:C1384513 ; oboInOwl:hasExactSynonym "CSN3", "casein, kappa", "csn10", @@ -143264,7 +147266,9 @@ OMIM:601695 a owl:Class ; "kca" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1448 ; - skos:exactMatch HGNC_symbol:CSN3 ; + skos:exactMatch UMLS:C1384513, + HGNC:2446, + HGNC_symbol:CSN3 ; biolink:category biolink:Gene . OMIM:601696 a owl:Class ; @@ -143281,10 +147285,10 @@ OMIM:601696 a owl:Class ; PMID:8528258, PMID:8848521, PMID:9514587 ; - oboInOwl:hasDbXref UMLS:C0683303, - UMLS:C1866430 ; oboInOwl:hasExactSynonym "novelty seeking personality trait", - "risk-taking behavior" . + "risk-taking behavior" ; + skos:exactMatch UMLS:C0683303, + UMLS:C1866430 . OMIM:601697 a owl:Class ; rdfs:label "SERPINB8" ; @@ -143294,7 +147298,6 @@ OMIM:601697 a owl:Class ; PMID:9268635 ; RO:0002525 CHR:9606chr18q22.1 ; RO:0003303 OMIM:617115 ; - oboInOwl:hasDbXref UMLS:C1418553 ; oboInOwl:hasExactSynonym "SERPINB8", "cytoplasmic antiproteinase 2", "protease inhibitor 8", @@ -143302,7 +147305,9 @@ OMIM:601697 a owl:Class ; "serpin peptidase inhibitor, clade B (ovalbumin), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5271 ; - skos:exactMatch HGNC_symbol:SERPINB8 ; + skos:exactMatch UMLS:C1418553, + HGNC:8952, + HGNC_symbol:SERPINB8 ; biolink:category biolink:Gene . OMIM:601699 a owl:Class ; @@ -143315,7 +147320,6 @@ OMIM:601699 a owl:Class ; PMID:8845856 ; RO:0002525 CHR:9606chr20q13.13 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1419071 ; oboInOwl:hasExactSynonym "PTGIS", "cyp8", "cyp8a1", @@ -143324,7 +147328,9 @@ OMIM:601699 a owl:Class ; "prostaglandin i2 synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5740 ; - skos:exactMatch HGNC_symbol:PTGIS ; + skos:exactMatch UMLS:C1419071, + HGNC:9603, + HGNC_symbol:PTGIS ; biolink:category biolink:Gene . OMIM:601700 a owl:Class ; @@ -143334,8 +147340,8 @@ OMIM:601700 a owl:Class ; PMID:7096652, PMID:7438515, PMID:8996280 ; - oboInOwl:hasDbXref UMLS:C1866428 ; oboInOwl:hasExactSynonym "sebaceous gland hyperplasia, familial presenile" ; + skos:exactMatch UMLS:C1866428 ; biolink:category biolink:Disease . OMIM:601701 a owl:Class ; @@ -143345,11 +147351,11 @@ OMIM:601701 a owl:Class ; PMID:7068160, PMID:7304669, PMID:8488878 ; - oboInOwl:hasDbXref UMLS:C1866427 ; oboInOwl:hasExactSynonym "alves syndrome", "arthrogryposis and ectodermal dysplasia", "todv syndrome", - "trichooculodermovertebral syndrome" . + "trichooculodermovertebral syndrome" ; + skos:exactMatch UMLS:C1866427 . OMIM:601702 a owl:Class ; rdfs:label "ROCK1" ; @@ -143373,14 +147379,15 @@ OMIM:601702 a owl:Class ; PMID:22941110, PMID:8617235, PMID:8798490 ; - oboInOwl:hasDbXref UMLS:C1335631 ; oboInOwl:hasExactSynonym "ROCK1", "p160-rock", "rho kinase", "rho-associated coiled-coil-containing protein kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6093 ; - skos:exactMatch HGNC_symbol:ROCK1 ; + skos:exactMatch UMLS:C1335631, + HGNC:10251, + HGNC_symbol:ROCK1 ; biolink:category biolink:Gene . OMIM:601703 a owl:Class ; @@ -143390,12 +147397,13 @@ OMIM:601703 a owl:Class ; PMID:7828592, PMID:8812448, PMID:8836115 ; - oboInOwl:hasDbXref UMLS:C1421428 ; oboInOwl:hasExactSynonym "VASP", "vasodilator-stimulated phosphoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7408 ; - skos:exactMatch HGNC_symbol:VASP ; + skos:exactMatch UMLS:C1421428, + HGNC:12652, + HGNC_symbol:VASP ; biolink:category biolink:Gene . OMIM:601704 a owl:Class ; @@ -143408,14 +147416,15 @@ OMIM:601704 a owl:Class ; PMID:8476424, PMID:8574748, PMID:8976378 ; - oboInOwl:hasDbXref UMLS:C1332821 ; oboInOwl:hasExactSynonym "CXCL9", "chemokine, cxc motif, ligand 9", "monokine induced by gamma interferon", "small inducible cytokine subfamily b, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4283 ; - skos:exactMatch HGNC_symbol:CXCL9 ; + skos:exactMatch UMLS:C1332821, + HGNC:7098, + HGNC_symbol:CXCL9 ; biolink:category biolink:Gene . OMIM:601705 a owl:Class ; @@ -143430,18 +147439,18 @@ OMIM:601705 a owl:Class ; PMID:5980117, PMID:7969402, PMID:8911612 ; - oboInOwl:hasDbXref UMLS:C1866426, - ORPHA:169095 ; oboInOwl:hasExactSynonym "TIDAND", "t-cell immunodeficiency, congenital alopecia, and nail dystrophy" ; + skos:exactMatch UMLS:C1866426, + ORPHA:169095 ; biolink:category biolink:Disease . OMIM:601706 a owl:Class ; rdfs:label "yemenite deaf-blind hypopigmentation syndrome" ; IAO:0000142 PMID:10441344, PMID:2280978 ; - oboInOwl:hasDbXref UMLS:C1866425 ; - oboInOwl:hasExactSynonym "yemenite deaf-blind hypopigmentation syndrome" . + oboInOwl:hasExactSynonym "yemenite deaf-blind hypopigmentation syndrome" ; + skos:exactMatch UMLS:C1866425 . OMIM:601707 a owl:Class ; rdfs:label "curry-jones syndrome" ; @@ -143451,19 +147460,19 @@ OMIM:601707 a owl:Class ; PMID:27236920, PMID:3144990, PMID:7606318 ; - oboInOwl:hasDbXref UMLS:C0795915, - ORPHA:1553 ; oboInOwl:hasExactSynonym "CRJS", "craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development", "curry-jones syndrome" ; + skos:exactMatch UMLS:C0795915, + ORPHA:1553 ; biolink:category biolink:Disease . OMIM:601708 a owl:Class ; rdfs:label "superior transverse scapular ligament, calcification of, familial" ; IAO:0000142 PMID:2033448, PMID:3701435 ; - oboInOwl:hasDbXref UMLS:C1866424 ; - oboInOwl:hasExactSynonym "superior transverse scapular ligament, calcification of, familial" . + oboInOwl:hasExactSynonym "superior transverse scapular ligament, calcification of, familial" ; + skos:exactMatch UMLS:C1866424 . OMIM:601709 a owl:Class ; rdfs:label "quebec platelet disorder" ; @@ -143475,12 +147484,12 @@ OMIM:601709 a owl:Class ; PMID:8611679, PMID:8652809, PMID:9028947 ; - oboInOwl:hasDbXref UMLS:C1866423 ; oboInOwl:hasExactSynonym "QPD", "bleeding disorder, platelet-type, 5", "factor 5 quebec", "quebec platelet disorder" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C1866423 ; biolink:category biolink:Disease . OMIM:601710 a owl:Class ; @@ -143489,12 +147498,13 @@ OMIM:601710 a owl:Class ; PMID:20485439, PMID:2598922, PMID:8663286 ; - oboInOwl:hasDbXref UMLS:C1414359 ; oboInOwl:hasExactSynonym "EIF5", "eukaryotic translation initiation factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1983 ; - skos:exactMatch HGNC_symbol:EIF5 ; + skos:exactMatch UMLS:C1414359, + HGNC:3299, + HGNC_symbol:EIF5 ; biolink:category biolink:Gene . OMIM:601711 a owl:Class ; @@ -143506,13 +147516,14 @@ OMIM:601711 a owl:Class ; PMID:7859281, PMID:8069916, PMID:9300817 ; - oboInOwl:hasDbXref UMLS:C1420887 ; oboInOwl:hasExactSynonym "TRAF1", "epstein-barr virus-induced mrna 6", "tnf receptor-associated factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7185 ; - skos:exactMatch HGNC_symbol:TRAF1 ; + skos:exactMatch UMLS:C1420887, + HGNC:12031, + HGNC_symbol:TRAF1 ; biolink:category biolink:Gene . OMIM:601713 a owl:Class ; @@ -143522,13 +147533,14 @@ OMIM:601713 a owl:Class ; PMID:7598724, PMID:8639570, PMID:8798479 ; - oboInOwl:hasDbXref UMLS:C1439342 ; oboInOwl:hasExactSynonym "GMFB", "glia maturation factor", "glia maturation factor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2764 ; - skos:exactMatch HGNC_symbol:GMFB ; + skos:exactMatch UMLS:C1439342, + HGNC:4373, + HGNC_symbol:GMFB ; biolink:category biolink:Gene . OMIM:601715 a owl:Class ; @@ -143543,7 +147555,6 @@ OMIM:601716 a owl:Class ; PMID:21307942, PMID:25799984, PMID:8884277 ; - oboInOwl:hasDbXref UMLS:C1823131 ; oboInOwl:hasExactSynonym "STAU1", "stau", "staufen double-stranded rna-binding protein 1", @@ -143551,7 +147562,9 @@ OMIM:601716 a owl:Class ; "staufen-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6780 ; - skos:exactMatch HGNC_symbol:STAU1 ; + skos:exactMatch UMLS:C1823131, + HGNC:11370, + HGNC_symbol:STAU1 ; biolink:category biolink:Gene . OMIM:601717 a owl:Class ; @@ -143564,7 +147577,6 @@ OMIM:601717 a owl:Class ; PMID:8921365 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:613101 ; - oboInOwl:hasDbXref UMLS:C1420507 ; oboInOwl:hasExactSynonym "STXBP2", "munc18-2", "syntaxin-binding protein 2", @@ -143572,7 +147584,9 @@ OMIM:601717 a owl:Class ; "unc18b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6813 ; - skos:exactMatch HGNC_symbol:STXBP2 ; + skos:exactMatch UMLS:C1420507, + HGNC:11445, + HGNC_symbol:STXBP2 ; biolink:category biolink:Gene . OMIM:601718 a owl:Class ; @@ -143581,10 +147595,10 @@ OMIM:601718 a owl:Class ; PMID:8556816, PMID:9070931, PMID:9425888 ; - oboInOwl:hasDbXref UMLS:C1866422 ; oboInOwl:hasExactSynonym "RP19", "retinitis pigmentosa 19" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1866422 ; biolink:category biolink:Disease . OMIM:601719 a owl:Class ; @@ -143609,17 +147623,18 @@ OMIM:601719 a owl:Class ; PMID:9119393 ; RO:0002525 CHR:9606chr17q23.2 ; RO:0003303 OMIM:147891 ; - oboInOwl:hasDbXref UMLS:C1420614, - UMLS:C1832432, - UMLS:C1840061, - UMLS:C2986382, - UMLS:C5231525 ; oboInOwl:hasExactSynonym "TBX4", "t-box 4", "t-box transcription factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9496 ; - skos:exactMatch HGNC_symbol:TBX4 ; + skos:exactMatch UMLS:C1420614, + UMLS:C1832432, + UMLS:C1840061, + UMLS:C2986382, + UMLS:C5231525, + HGNC:11603, + HGNC_symbol:TBX4 ; biolink:category biolink:Gene . OMIM:601720 a owl:Class ; @@ -143627,7 +147642,6 @@ OMIM:601720 a owl:Class ; IAO:0000142 PMID:10964102, PMID:1923796, PMID:8670903 ; - oboInOwl:hasDbXref UMLS:C1416642 ; oboInOwl:hasExactSynonym "KIN", "antigenic determinant of recombination protein a, mouse, homolog of", "binding to curved DNA", @@ -143635,7 +147649,9 @@ OMIM:601720 a owl:Class ; "kin17 dna- and rna-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22944 ; - skos:exactMatch HGNC_symbol:KIN ; + skos:exactMatch UMLS:C1416642, + HGNC:6327, + HGNC_symbol:KIN ; biolink:category biolink:Gene . OMIM:601721 a owl:Class ; @@ -143648,8 +147664,6 @@ OMIM:601721 a owl:Class ; PMID:8552191, PMID:8643514, PMID:8938457 ; - oboInOwl:hasDbXref UMLS:C1332415, - UMLS:C3148863 ; oboInOwl:hasExactSynonym "BIRC3", "api2/malt1 fusion gene", "apoptosis inhibitor 2", @@ -143659,7 +147673,10 @@ OMIM:601721 a owl:Class ; "mammalian iap homolog c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:330 ; - skos:exactMatch HGNC_symbol:BIRC3 ; + skos:exactMatch UMLS:C1332415, + UMLS:C3148863, + HGNC:591, + HGNC_symbol:BIRC3 ; biolink:category biolink:Gene . OMIM:601722 a owl:Class ; @@ -143670,14 +147687,15 @@ OMIM:601723 a owl:Class ; rdfs:label "FZD5" ; IAO:0000142 PMID:8626800, PMID:9054360 ; - oboInOwl:hasDbXref UMLS:C1414888 ; oboInOwl:hasExactSynonym "FZD5", "frizzled 5", "frizzled class receptor 5", "frizzled, drosophila, homolog of, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7855 ; - skos:exactMatch HGNC_symbol:FZD5 ; + skos:exactMatch UMLS:C1414888, + HGNC:4043, + HGNC_symbol:FZD5 ; biolink:category biolink:Gene . OMIM:601724 a owl:Class ; @@ -143696,14 +147714,15 @@ OMIM:601724 a owl:Class ; PMID:9308961 ; RO:0002525 CHR:9606chr2q31.3 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1417683 ; oboInOwl:hasExactSynonym "NEUROD1", "beta-cell e-box transactivator 2", "neurod", "neurogenic differentiation 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4760 ; - skos:exactMatch HGNC_symbol:NEUROD1 ; + skos:exactMatch UMLS:C1417683, + HGNC:7762, + HGNC_symbol:NEUROD1 ; biolink:category biolink:Gene . OMIM:601725 a owl:Class ; @@ -143717,13 +147736,14 @@ OMIM:601725 a owl:Class ; PMID:9119405 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:618374 ; - oboInOwl:hasDbXref UMLS:C1417684, - UMLS:C5193063 ; oboInOwl:hasExactSynonym "NEUROD2", "neurogenic differentiation 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4761 ; - skos:exactMatch HGNC_symbol:NEUROD2 ; + skos:exactMatch UMLS:C1417684, + UMLS:C5193063, + HGNC:7763, + HGNC_symbol:NEUROD2 ; biolink:category biolink:Gene . OMIM:601726 a owl:Class ; @@ -143736,14 +147756,15 @@ OMIM:601726 a owl:Class ; PMID:8816493, PMID:9119405, PMID:9539122 ; - oboInOwl:hasDbXref UMLS:C1417685 ; oboInOwl:hasExactSynonym "NEUROG1", "neurogenic differentiation 3", "neurogenin 1", "ngn1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4762 ; - skos:exactMatch HGNC_symbol:NEUROG1 ; + skos:exactMatch UMLS:C1417685, + HGNC:7764, + HGNC_symbol:NEUROG1 ; biolink:category biolink:Gene . OMIM:601727 a owl:Class ; @@ -143754,13 +147775,14 @@ OMIM:601729 a owl:Class ; rdfs:label "TEAD2" ; IAO:0000142 PMID:8702974, PMID:9889009 ; - oboInOwl:hasDbXref UMLS:C1420680 ; oboInOwl:hasExactSynonym "TEAD2", "tea domain family member 2", "transcriptional enhancer factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8463 ; - skos:exactMatch HGNC_symbol:TEAD2 ; + skos:exactMatch UMLS:C1420680, + HGNC:11715, + HGNC_symbol:TEAD2 ; biolink:category biolink:Gene . OMIM:601730 a owl:Class ; @@ -143771,13 +147793,14 @@ OMIM:601730 a owl:Class ; PMID:9463366 ; RO:0002525 CHR:9606chr1q24.3 ; RO:0003303 OMIM:617816 ; - oboInOwl:hasDbXref UMLS:C1418561 ; oboInOwl:hasExactSynonym "PIGC", "gpi2, yeast, homolog of", "phosphatidylinositol glycan anchor biosynthesis class c protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5279 ; - skos:exactMatch HGNC_symbol:PIGC ; + skos:exactMatch UMLS:C1418561, + HGNC:8960, + HGNC_symbol:PIGC ; biolink:category biolink:Gene . OMIM:601731 a owl:Class ; @@ -143791,8 +147814,6 @@ OMIM:601731 a owl:Class ; PMID:8567683 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:608688 ; - oboInOwl:hasDbXref UMLS:C1412625, - UMLS:C4225570 ; oboInOwl:hasExactSynonym "5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase", "ATIC", "aicar transformylase/imp cyclohydrolase", @@ -143800,7 +147821,10 @@ OMIM:601731 a owl:Class ; "purh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:471 ; - skos:exactMatch HGNC_symbol:ATIC ; + skos:exactMatch UMLS:C1412625, + UMLS:C4225570, + HGNC:794, + HGNC_symbol:ATIC ; biolink:category biolink:Gene . OMIM:601732 a owl:Class ; @@ -143808,7 +147832,6 @@ OMIM:601732 a owl:Class ; IAO:0000142 PMID:32001526, PMID:8804307, PMID:9693044 ; - oboInOwl:hasDbXref UMLS:C1335845 ; oboInOwl:hasExactSynonym "SMARCC1", "brg1-associated factor, 155-kd", "chromatin remodeling complex baf155 subunit", @@ -143817,20 +147840,23 @@ OMIM:601732 a owl:Class ; "swi3, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6599 ; - skos:exactMatch HGNC_symbol:SMARCC1 ; + skos:exactMatch UMLS:C1335845, + HGNC:11104, + HGNC_symbol:SMARCC1 ; biolink:category biolink:Gene . OMIM:601733 a owl:Class ; rdfs:label "MGST2" ; IAO:0000142 PMID:11322876, PMID:8703034 ; - oboInOwl:hasDbXref UMLS:C1417146 ; oboInOwl:hasExactSynonym "MGST2", "glutathione s-transferase, microsomal, 2", "gst2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4258 ; - skos:exactMatch HGNC_symbol:MGST2 ; + skos:exactMatch UMLS:C1417146, + HGNC:7063, + HGNC_symbol:MGST2 ; biolink:category biolink:Gene . OMIM:601734 a owl:Class ; @@ -143844,7 +147870,6 @@ OMIM:601734 a owl:Class ; PMID:9693044 ; RO:0002525 CHR:9606chr12q13.2 ; RO:0003303 OMIM:618362 ; - oboInOwl:hasDbXref UMLS:C1335846 ; oboInOwl:hasExactSynonym "SMARCC2", "brg1-associated factor, 170-kd", "chromatin remodeling complex baf170 subunit", @@ -143853,7 +147878,9 @@ OMIM:601734 a owl:Class ; "swi3, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6601 ; - skos:exactMatch HGNC_symbol:SMARCC2 ; + skos:exactMatch UMLS:C1335846, + HGNC:11105, + HGNC_symbol:SMARCC2 ; biolink:category biolink:Gene . OMIM:601735 a owl:Class ; @@ -143863,8 +147890,6 @@ OMIM:601735 a owl:Class ; PMID:9693044 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:618779 ; - oboInOwl:hasDbXref UMLS:C1335847, - UMLS:C5241442 ; oboInOwl:hasExactSynonym "SMARCD1", "brg1-associated factor, 60-kd, a", "chromatin remodeling complex baf60a subunit", @@ -143873,7 +147898,10 @@ OMIM:601735 a owl:Class ; "swp73, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6602 ; - skos:exactMatch HGNC_symbol:SMARCD1 ; + skos:exactMatch UMLS:C1335847, + UMLS:C5241442, + HGNC:11106, + HGNC_symbol:SMARCD1 ; biolink:category biolink:Gene . OMIM:601736 a owl:Class ; @@ -143884,7 +147912,6 @@ OMIM:601736 a owl:Class ; PMID:9693044 ; RO:0002525 CHR:9606chr17q23.3 ; RO:0003303 OMIM:617475 ; - oboInOwl:hasDbXref UMLS:C1335848 ; oboInOwl:hasExactSynonym "SMARCD2", "brg1-associated factor, 60-kd, B", "chromatin remodeling complex baf60b subunit", @@ -143893,7 +147920,9 @@ OMIM:601736 a owl:Class ; "swp73, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6603 ; - skos:exactMatch HGNC_symbol:SMARCD2 ; + skos:exactMatch UMLS:C1335848, + HGNC:11107, + HGNC_symbol:SMARCD2 ; biolink:category biolink:Gene . OMIM:601737 a owl:Class ; @@ -143902,7 +147931,6 @@ OMIM:601737 a owl:Class ; PMID:19396158, PMID:8804307, PMID:9693044 ; - oboInOwl:hasDbXref UMLS:C1335849 ; oboInOwl:hasExactSynonym "SMARCD3", "brg1-associated factor, 60-kd, c", "chromatin remodeling complex baf60c subunit", @@ -143911,7 +147939,9 @@ OMIM:601737 a owl:Class ; "swp73 yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6604 ; - skos:exactMatch HGNC_symbol:SMARCD3 ; + skos:exactMatch UMLS:C1335849, + HGNC:11108, + HGNC_symbol:SMARCD3 ; biolink:category biolink:Gene . OMIM:601738 a owl:Class ; @@ -143920,7 +147950,6 @@ OMIM:601738 a owl:Class ; PMID:11390981, PMID:12239711, PMID:9037597 ; - oboInOwl:hasDbXref UMLS:C1333366 ; oboInOwl:hasExactSynonym "EXTL1", "exostosin-like 1", "exostosin-like glycosyltransferase 1", @@ -143928,7 +147957,9 @@ OMIM:601738 a owl:Class ; "multiple exostoses-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2134 ; - skos:exactMatch HGNC_symbol:EXTL1 ; + skos:exactMatch UMLS:C1333366, + HGNC:3515, + HGNC_symbol:EXTL1 ; biolink:category biolink:Gene . OMIM:601739 a owl:Class ; @@ -143949,14 +147980,15 @@ OMIM:601739 a owl:Class ; PMID:24642863, PMID:7565694, PMID:9049632 ; - oboInOwl:hasDbXref UMLS:C1334501 ; oboInOwl:hasExactSynonym "MEIS1", "meis homeobox 1", "meis1 homeobox protein", "meis1, mouse, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4211 ; - skos:exactMatch HGNC_symbol:MEIS1 ; + skos:exactMatch UMLS:C1334501, + HGNC:7000, + HGNC_symbol:MEIS1 ; biolink:category biolink:Gene . OMIM:601740 a owl:Class ; @@ -143977,14 +148009,15 @@ OMIM:601740 a owl:Class ; PMID:9383298 ; RO:0002525 CHR:9606chr15q14 ; RO:0003303 OMIM:600987 ; - oboInOwl:hasDbXref UMLS:C1417106 ; oboInOwl:hasExactSynonym "MEIS2", "meis homeobox 2", "meis1, mouse, homolog of, 2", "meis1-related gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4212 ; - skos:exactMatch HGNC_symbol:MEIS2 ; + skos:exactMatch UMLS:C1417106, + HGNC:7001, + HGNC_symbol:MEIS2 ; biolink:category biolink:Gene . OMIM:601741 a owl:Class ; @@ -143992,13 +148025,14 @@ OMIM:601741 a owl:Class ; IAO:0000142 PMID:17257057, PMID:7611460, PMID:9037604 ; - oboInOwl:hasDbXref UMLS:C1332813 ; oboInOwl:hasExactSynonym "CUL5", "cullin 5", "vasopressin-activated calcium-mobilizing receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8065 ; - skos:exactMatch HGNC_symbol:CUL5 ; + skos:exactMatch UMLS:C1332813, + HGNC:2556, + HGNC_symbol:CUL5 ; biolink:category biolink:Gene . OMIM:601742 a owl:Class ; @@ -144017,14 +148051,15 @@ OMIM:601742 a owl:Class ; PMID:8769649, PMID:8986806, PMID:9016654 ; - oboInOwl:hasDbXref UMLS:C1424235 ; oboInOwl:hasExactSynonym "TRIM28", "krab-associated protein 1", "transcriptional intermediary factor 1-beta", "tripartite motif-containing protein 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10155 ; - skos:exactMatch HGNC_symbol:TRIM28 ; + skos:exactMatch UMLS:C1424235, + HGNC:16384, + HGNC_symbol:TRIM28 ; biolink:category biolink:Gene . OMIM:601743 a owl:Class ; @@ -144036,13 +148071,14 @@ OMIM:601743 a owl:Class ; PMID:8999038 ; RO:0002525 CHR:9606chr5p13.1 ; RO:0003303 OMIM:105250 ; - oboInOwl:hasDbXref UMLS:C1335092 ; oboInOwl:hasExactSynonym "OSMR", "oncostatin m receptor", "oncostatin m-specific receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9180 ; - skos:exactMatch HGNC_symbol:OSMR ; + skos:exactMatch UMLS:C1335092, + HGNC:8507, + HGNC_symbol:OSMR ; biolink:category biolink:Gene . OMIM:601745 a owl:Class ; @@ -144052,14 +148088,15 @@ OMIM:601745 a owl:Class ; PMID:31147513, PMID:8605869, PMID:8661042 ; - oboInOwl:hasDbXref UMLS:C1416591 ; oboInOwl:hasExactSynonym "KCNK1", "k2p1", "potassium channel, subfamily k, member 1", "potassium channel, weakly inward-rectifying, with twin p domains, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3775 ; - skos:exactMatch HGNC_symbol:KCNK1 ; + skos:exactMatch UMLS:C1416591, + HGNC:6272, + HGNC_symbol:KCNK1 ; biolink:category biolink:Gene . OMIM:601746 a owl:Class ; @@ -144076,27 +148113,29 @@ OMIM:601746 a owl:Class ; PMID:9020069 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:233600 ; - oboInOwl:hasDbXref UMLS:C1333935 ; oboInOwl:hasExactSynonym "HYOU1", "hypoxia up-regulated 1", "oxygen-regulated protein, 150-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10525 ; - skos:exactMatch HGNC_symbol:HYOU1 ; + skos:exactMatch UMLS:C1333935, + HGNC:16931, + HGNC_symbol:HYOU1 ; biolink:category biolink:Gene . OMIM:601747 a owl:Class ; rdfs:label "TRIM23" ; IAO:0000142 PMID:10748148, PMID:8473324 ; - oboInOwl:hasDbXref UMLS:C1540057 ; oboInOwl:hasExactSynonym "TRIM23", "adp-ribosylation factor domain protein 1", "arf domain protein 1", "tripartite motif-containing protein 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:373 ; - skos:exactMatch HGNC_symbol:TRIM23 ; + skos:exactMatch UMLS:C1540057, + HGNC:660, + HGNC_symbol:TRIM23 ; biolink:category biolink:Gene . OMIM:601748 a owl:Class ; @@ -144105,13 +148144,14 @@ OMIM:601748 a owl:Class ; PMID:7552146, PMID:8194529, PMID:9063743 ; - oboInOwl:hasDbXref UMLS:C1415344 ; oboInOwl:hasExactSynonym "GTF2H2", "general transcription factor iih, polypeptide 2", "transcription factor iih, 44-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2966 ; - skos:exactMatch HGNC_symbol:GTF2H2 ; + skos:exactMatch UMLS:C1415344, + HGNC:4656, + HGNC_symbol:GTF2H2 ; biolink:category biolink:Gene . OMIM:601749 a owl:Class ; @@ -144123,27 +148163,29 @@ OMIM:601749 a owl:Class ; PMID:8955134 ; RO:0002525 CHR:9606chr1p22.1 ; RO:0003303 OMIM:138000 ; - oboInOwl:hasDbXref UMLS:C1333678 ; oboInOwl:hasExactSynonym "GLMN", "fkbp-associated protein, 48-kd", "fkbp-associated protein, 68-kd", "glomulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11146 ; - skos:exactMatch HGNC_symbol:GLMN ; + skos:exactMatch UMLS:C1333678, + HGNC:14373, + HGNC_symbol:GLMN ; biolink:category biolink:Gene . OMIM:601750 a owl:Class ; rdfs:label "GTF2H3" ; IAO:0000142 PMID:8194529 ; - oboInOwl:hasDbXref UMLS:C1415345 ; oboInOwl:hasExactSynonym "GTF2H3", "general transcription factor iih, polypeptide 3", "tfb4", "transcription factor iih, 34-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2967 ; - skos:exactMatch HGNC_symbol:GTF2H3 ; + skos:exactMatch UMLS:C1415345, + HGNC:4657, + HGNC_symbol:GTF2H3 ; biolink:category biolink:Gene . OMIM:601751 a owl:Class ; @@ -144155,7 +148197,6 @@ OMIM:601751 a owl:Class ; PMID:12118247, PMID:8977118, PMID:9531978 ; - oboInOwl:hasDbXref UMLS:C1825952 ; oboInOwl:hasExactSynonym "MCHR1", "g protein-coupled receptor 24", "mchr", @@ -144163,7 +148204,9 @@ OMIM:601751 a owl:Class ; "slc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2847 ; - skos:exactMatch HGNC_symbol:MCHR1 ; + skos:exactMatch UMLS:C1825952, + HGNC:4479, + HGNC_symbol:MCHR1 ; biolink:category biolink:Gene . OMIM:601752 a owl:Class ; @@ -144183,7 +148226,6 @@ OMIM:601752 a owl:Class ; PMID:9676430 ; RO:0002525 CHR:9606chr10q24.1 ; RO:0003303 OMIM:615683 ; - oboInOwl:hasDbXref UMLS:C1414412 ; oboInOwl:hasExactSynonym "ENTPD1", "apyrase", "cd39 antigen", @@ -144191,7 +148233,9 @@ OMIM:601752 a owl:Class ; "vascular atp diphosphohydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:953 ; - skos:exactMatch HGNC_symbol:ENTPD1 ; + skos:exactMatch UMLS:C1414412, + HGNC:3363, + HGNC_symbol:ENTPD1 ; biolink:category biolink:Gene . OMIM:601753 a owl:Class ; @@ -144202,14 +148246,15 @@ OMIM:601753 a owl:Class ; PMID:8509368, PMID:8812478, PMID:9146923 ; - oboInOwl:hasDbXref UMLS:C1418797 ; oboInOwl:hasExactSynonym "PPID", "cyclophilin 40", "cyclophilin d", "peptidyl-prolyl isomerase d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5481 ; - skos:exactMatch HGNC_symbol:PPID ; + skos:exactMatch UMLS:C1418797, + HGNC:9257, + HGNC_symbol:PPID ; biolink:category biolink:Gene . OMIM:601754 a owl:Class ; @@ -144217,12 +148262,13 @@ OMIM:601754 a owl:Class ; IAO:0000142 PMID:10024240, PMID:12612215, PMID:26040713 ; - oboInOwl:hasDbXref UMLS:C1421316 ; oboInOwl:hasExactSynonym "UFD1L", "ubiquitin fusion degradation 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7353 ; - skos:exactMatch HGNC_symbol:UFD1 ; + skos:exactMatch UMLS:C1421316, + HGNC:12520, + HGNC_symbol:UFD1 ; biolink:category biolink:Gene . OMIM:601755 a owl:Class ; @@ -144234,7 +148280,6 @@ OMIM:601755 a owl:Class ; PMID:8786095, PMID:9063747, PMID:9499415 ; - oboInOwl:hasDbXref UMLS:C1424569 ; oboInOwl:hasExactSynonym "ESS2", "digeorge syndrome critical region gene 14", "digeorge syndrome critical region gene dgsi", @@ -144242,7 +148287,9 @@ OMIM:601755 a owl:Class ; "ess2 splicing factor, xenopus, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8220 ; - skos:exactMatch HGNC_symbol:ESS2 ; + skos:exactMatch UMLS:C1424569, + HGNC:16817, + HGNC_symbol:ESS2 ; biolink:category biolink:Gene . OMIM:601756 a owl:Class ; @@ -144266,14 +148313,15 @@ OMIM:601756 a owl:Class ; PMID:9592121 ; RO:0002525 CHR:9606chr2q24.3 ; RO:0003303 OMIM:211900 ; - oboInOwl:hasDbXref UMLS:C1414953 ; oboInOwl:hasExactSynonym "GALNT3", "galnac transferase 3", "polypeptide n-acetylgalactosaminyltransferase 3", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2591 ; - skos:exactMatch HGNC_symbol:GALNT3 ; + skos:exactMatch UMLS:C1414953, + HGNC:4125, + HGNC_symbol:GALNT3 ; biolink:category biolink:Gene . OMIM:601757 a owl:Class ; @@ -144304,14 +148352,15 @@ OMIM:601757 a owl:Class ; PMID:9094717 ; RO:0002525 CHR:9606chr6q23.3 ; RO:0003303 OMIM:215100 ; - oboInOwl:hasDbXref UMLS:C1418479 ; oboInOwl:hasExactSynonym "PEX7", "peroxin 7", "peroxisomal pts2 receptor", "peroxisome biogenesis factor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5191 ; - skos:exactMatch HGNC_symbol:PEX7 ; + skos:exactMatch UMLS:C1418479, + HGNC:8860, + HGNC_symbol:PEX7 ; biolink:category biolink:Gene . OMIM:601758 a owl:Class ; @@ -144329,33 +148378,35 @@ OMIM:601758 a owl:Class ; PMID:9792857 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:266510 ; - oboInOwl:hasDbXref UMLS:C1418473 ; oboInOwl:hasExactSynonym "PEX12", "peroxin 12", "peroxisome biogenesis factor 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5193 ; - skos:exactMatch HGNC_symbol:PEX12 ; + skos:exactMatch UMLS:C1418473, + HGNC:8854, + HGNC_symbol:PEX12 ; biolink:category biolink:Gene . OMIM:601759 a owl:Class ; rdfs:label "preaxial hallucal polydactyly" ; IAO:0000142 PMID:9132503 ; - oboInOwl:hasDbXref UMLS:C1866339 ; - oboInOwl:hasExactSynonym "preaxial hallucal polydactyly" . + oboInOwl:hasExactSynonym "preaxial hallucal polydactyly" ; + skos:exactMatch UMLS:C1866339 . OMIM:601760 a owl:Class ; rdfs:label "GTF2H4" ; IAO:0000142 PMID:17466626, PMID:9118947 ; - oboInOwl:hasDbXref UMLS:C1415346 ; oboInOwl:hasExactSynonym "GTF2H4", "general transcription factor iih, polypeptide 4", "tfb2", "transcription factor iih, 52-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2968 ; - skos:exactMatch HGNC_symbol:GTF2H4 ; + skos:exactMatch UMLS:C1415346, + HGNC:4658, + HGNC_symbol:GTF2H4 ; biolink:category biolink:Gene . OMIM:601761 a owl:Class ; @@ -144369,13 +148420,14 @@ OMIM:601761 a owl:Class ; PMID:8521391, PMID:8755496, PMID:8780721 ; - oboInOwl:hasDbXref UMLS:C1332666 ; oboInOwl:hasExactSynonym "CASP7", "caspase 7, apoptosis-related cysteine protease", "mch3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:840 ; - skos:exactMatch HGNC_symbol:CASP7 ; + skos:exactMatch UMLS:C1332666, + HGNC:1508, + HGNC_symbol:CASP7 ; biolink:category biolink:Gene . OMIM:601762 a owl:Class ; @@ -144393,7 +148445,6 @@ OMIM:601762 a owl:Class ; PMID:9045686 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:605027 ; - oboInOwl:hasDbXref UMLS:C1332661 ; oboInOwl:hasExactSynonym "CASP10", "caspase 10, apoptosis-related cysteine protease", "caspase 10, isoform B", @@ -144401,7 +148452,9 @@ OMIM:601762 a owl:Class ; "mch4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:843 ; - skos:exactMatch HGNC_symbol:CASP10 ; + skos:exactMatch UMLS:C1332661, + HGNC:1500, + HGNC_symbol:CASP10 ; biolink:category biolink:Gene . OMIM:601763 a owl:Class ; @@ -144448,11 +148501,6 @@ OMIM:601763 a owl:Class ; PMID:9931493 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:211980 ; - oboInOwl:hasDbXref UMLS:C1332667, - UMLS:C1846545, - UMLS:C1968897, - UMLS:C1969388, - UMLS:C4016759 ; oboInOwl:hasExactSynonym "CASP8", "caspase 8, apoptosis-related cysteine protease", "fadd-homologous ice/ced3-like protease", @@ -144461,7 +148509,13 @@ OMIM:601763 a owl:Class ; "mort1-associated ced3 homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:841 ; - skos:exactMatch HGNC_symbol:CASP8 ; + skos:exactMatch UMLS:C1332667, + UMLS:C1846545, + UMLS:C1968897, + UMLS:C1969388, + UMLS:C4016759, + HGNC:1509, + HGNC_symbol:CASP8 ; biolink:category biolink:Gene . OMIM:601765 a owl:Class ; @@ -144473,14 +148527,15 @@ OMIM:601766 a owl:Class ; IAO:0000142 PMID:15930120, PMID:27509850, PMID:9147651 ; - oboInOwl:hasDbXref UMLS:C1333589 ; oboInOwl:hasExactSynonym "FZD9", "frizzled class receptor 9", "frizzled, drosophila, homolog of, 3, formerly", "frizzled, drosophila, homolog of, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8326 ; - skos:exactMatch HGNC_symbol:FZD9 ; + skos:exactMatch UMLS:C1333589, + HGNC:4047, + HGNC_symbol:FZD9 ; biolink:category biolink:Gene . OMIM:601767 a owl:Class ; @@ -144499,14 +148554,15 @@ OMIM:601767 a owl:Class ; PMID:9417924, PMID:9434941, PMID:9616134 ; - oboInOwl:hasDbXref UMLS:C1415546, - UMLS:C1868262 ; oboInOwl:hasExactSynonym "HIP1", "hip1/pdgfrb fusion gene", "huntingtin-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3092 ; - skos:exactMatch HGNC_symbol:HIP1 ; + skos:exactMatch UMLS:C1415546, + UMLS:C1868262, + HGNC:4913, + HGNC_symbol:HIP1 ; biolink:category biolink:Gene . OMIM:601768 a owl:Class ; @@ -144518,8 +148574,6 @@ OMIM:601768 a owl:Class ; PMID:9169142 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:601626 ; - oboInOwl:hasDbXref UMLS:C1420025, - UMLS:C1866327 ; oboInOwl:hasExactSynonym "SH3GL1", "een fusion partner of mll", "een/mll fusion gene", @@ -144530,7 +148584,10 @@ OMIM:601768 a owl:Class ; "sh3p8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6455 ; - skos:exactMatch HGNC_symbol:SH3GL1 ; + skos:exactMatch UMLS:C1420025, + UMLS:C1866327, + HGNC:10830, + HGNC_symbol:SH3GL1 ; biolink:category biolink:Gene . OMIM:601769 a owl:Class ; @@ -144614,14 +148671,15 @@ OMIM:601769 a owl:Class ; PMID:9886274 ; RO:0002525 CHR:9606chr12q13.11 ; RO:0003303 OMIM:277440 ; - oboInOwl:hasDbXref UMLS:C0919430 ; oboInOwl:hasExactSynonym "1,25-dihydroxyvitamin d3 receptor", "VDR", "vitamin d hormone receptor", "vitamin d receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7421 ; - skos:exactMatch HGNC_symbol:VDR ; + skos:exactMatch UMLS:C0919430, + HGNC:12679, + HGNC_symbol:VDR ; biolink:category biolink:Gene . OMIM:601771 a owl:Class ; @@ -144652,13 +148710,14 @@ OMIM:601771 a owl:Class ; PMID:9497261 ; RO:0002525 CHR:9606chr2p22.2 ; RO:0003303 OMIM:231300 ; - oboInOwl:hasDbXref UMLS:C1413859 ; oboInOwl:hasExactSynonym "CYP1B1", "cytochrome p450, subfamily i, polypeptide 1", "p4501b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1545 ; - skos:exactMatch HGNC_symbol:CYP1B1 ; + skos:exactMatch UMLS:C1413859, + HGNC:2597, + HGNC_symbol:CYP1B1 ; biolink:category biolink:Gene . OMIM:601772 a owl:Class ; @@ -144689,14 +148748,15 @@ OMIM:601772 a owl:Class ; PMID:7774939, PMID:7929075, PMID:8076949 ; - oboInOwl:hasDbXref UMLS:C1415406 ; oboInOwl:hasExactSynonym "H2AFX", "h2a histone family, member 10", "h2ax", "h2ax histone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3014 ; - skos:exactMatch HGNC_symbol:H2AX ; + skos:exactMatch UMLS:C1415406, + HGNC:4739, + HGNC_symbol:H2AX ; biolink:category biolink:Gene . OMIM:601773 a owl:Class ; @@ -144707,7 +148767,6 @@ OMIM:601773 a owl:Class ; PMID:9383296, PMID:9657860, PMID:9828138 ; - oboInOwl:hasDbXref UMLS:C1419119 ; oboInOwl:hasExactSynonym "PTPRN", "insulinoma-associated protein 2", "islet antigen 2", @@ -144715,7 +148774,9 @@ OMIM:601773 a owl:Class ; "protein-tyrosine phosphatase, receptor-type, n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5798 ; - skos:exactMatch HGNC_symbol:PTPRN ; + skos:exactMatch UMLS:C1419119, + HGNC:9676, + HGNC_symbol:PTPRN ; biolink:category biolink:Gene . OMIM:601774 a owl:Class ; @@ -144727,7 +148788,6 @@ OMIM:601774 a owl:Class ; PMID:15459394, PMID:19403558, PMID:8292036 ; - oboInOwl:hasDbXref UMLS:C1417138 ; oboInOwl:hasExactSynonym "MGAT5", "alpha-1,6-mannosyl-glycoprotein beta-1,6-n-acetylglucosaminyltransferase", "gnt-v", @@ -144735,7 +148795,9 @@ OMIM:601774 a owl:Class ; "n-acetylglucosaminyltransferase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4249 ; - skos:exactMatch HGNC_symbol:MGAT5 ; + skos:exactMatch UMLS:C1417138, + HGNC:7049, + HGNC_symbol:MGAT5 ; biolink:category biolink:Gene . OMIM:601778 a owl:Class ; @@ -144750,14 +148812,15 @@ OMIM:601778 a owl:Class ; PMID:9097968 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:619743 ; - oboInOwl:hasDbXref UMLS:C1418751 ; oboInOwl:hasExactSynonym "POLRMT", "mtrnap", "polymerase, rna, mitochondrial", "polymerase, rna, nuclear, single-polypeptide, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5442 ; - skos:exactMatch HGNC_symbol:POLRMT ; + skos:exactMatch UMLS:C1418751, + HGNC:9200, + HGNC_symbol:POLRMT ; biolink:category biolink:Gene . OMIM:601779 a owl:Class ; @@ -144778,14 +148841,14 @@ OMIM:601780 a owl:Class ; PMID:9097964, PMID:9600738, PMID:9733028 ; - oboInOwl:hasDbXref UMLS:C1866282, - ORPHA:168491, - ORPHA:228363, - ORPHA:79262 ; oboInOwl:hasExactSynonym "CLN6A", "ceroid lipofuscinosis, neuronal, 6a", "neuronal ceroid lipofuscinosis, late infantile, variant" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C1866282, + ORPHA:168491, + ORPHA:228363, + ORPHA:79262 ; biolink:category biolink:Disease . OMIM:601781 a owl:Class ; @@ -144796,13 +148859,14 @@ OMIM:601782 a owl:Class ; rdfs:label "TESK1" ; IAO:0000142 PMID:11511097, PMID:8537404 ; - oboInOwl:hasDbXref UMLS:C1420688 ; oboInOwl:hasExactSynonym "TESK1", "testis-associated actin-modeling kinase 1", "testis-specific protein kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7016 ; - skos:exactMatch HGNC_symbol:TESK1 ; + skos:exactMatch UMLS:C1420688, + HGNC:11731, + HGNC_symbol:TESK1 ; biolink:category biolink:Gene . OMIM:601783 a owl:Class ; @@ -144812,7 +148876,6 @@ OMIM:601783 a owl:Class ; PMID:12231625, PMID:8700896, PMID:9501006 ; - oboInOwl:hasDbXref UMLS:C1417022 ; oboInOwl:hasExactSynonym "MAP6", "kiaa1878", "microtubule-associated protein 6", @@ -144820,7 +148883,9 @@ OMIM:601783 a owl:Class ; "stable tubule-only polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4135 ; - skos:exactMatch HGNC_symbol:MAP6 ; + skos:exactMatch UMLS:C1417022, + HGNC:6868, + HGNC_symbol:MAP6 ; biolink:category biolink:Gene . OMIM:601785 a owl:Class ; @@ -144852,25 +148917,27 @@ OMIM:601785 a owl:Class ; PMID:9887379 ; RO:0002525 CHR:9606chr16p13.2 ; RO:0003303 OMIM:212065 ; - oboInOwl:hasDbXref UMLS:C0349653, - UMLS:C1418674 ; oboInOwl:hasExactSynonym "PMM2", "phosphomannomutase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5373 ; - skos:exactMatch HGNC_symbol:PMM2 ; + skos:exactMatch UMLS:C0349653, + UMLS:C1418674, + HGNC:9115, + HGNC_symbol:PMM2 ; biolink:category biolink:Gene . OMIM:601786 a owl:Class ; rdfs:label "PMM1" ; IAO:0000142 PMID:9070917, PMID:9119384 ; - oboInOwl:hasDbXref UMLS:C1418673 ; oboInOwl:hasExactSynonym "PMM1", "phosphomannomutase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5372 ; - skos:exactMatch HGNC_symbol:PMM1 ; + skos:exactMatch UMLS:C1418673, + HGNC:9114, + HGNC_symbol:PMM1 ; biolink:category biolink:Gene . OMIM:601787 a owl:Class ; @@ -144880,14 +148947,15 @@ OMIM:601787 a owl:Class ; PMID:8884287, PMID:8942982, PMID:9045704 ; - oboInOwl:hasDbXref UMLS:C1336568 ; oboInOwl:hasExactSynonym "TAF5", "taf5 RNA polymerase ii, tata box-binding protein-associated factor, 100-kd", "tata box-binding protein-associated factor 2d", "tbp-associated factor, RNA polymerase ii, 100-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6877 ; - skos:exactMatch HGNC_symbol:TAF5 ; + skos:exactMatch UMLS:C1336568, + HGNC:11539, + HGNC_symbol:TAF5 ; biolink:category biolink:Gene . OMIM:601788 a owl:Class ; @@ -144916,13 +148984,14 @@ OMIM:601788 a owl:Class ; PMID:9843994 ; RO:0002525 CHR:9606chr2q32.2 ; RO:0003303 OMIM:614160 ; - oboInOwl:hasDbXref UMLS:C1333667 ; oboInOwl:hasExactSynonym "MSTN", "growth/differentiation factor 8", "myostatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2660 ; - skos:exactMatch HGNC_symbol:MSTN ; + skos:exactMatch UMLS:C1333667, + HGNC:4223, + HGNC_symbol:MSTN ; biolink:category biolink:Gene . OMIM:601789 a owl:Class ; @@ -144940,13 +149009,14 @@ OMIM:601789 a owl:Class ; PMID:9878256 ; RO:0002525 CHR:9606chr2p15 ; RO:0003303 OMIM:614885 ; - oboInOwl:hasDbXref UMLS:C1418474 ; oboInOwl:hasExactSynonym "PEX13", "peroxin 13", "peroxisome biogenesis factor 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5194 ; - skos:exactMatch HGNC_symbol:PEX13 ; + skos:exactMatch UMLS:C1418474, + HGNC:8855, + HGNC_symbol:PEX13 ; biolink:category biolink:Gene . OMIM:601790 a owl:Class ; @@ -144955,7 +149025,6 @@ OMIM:601790 a owl:Class ; PMID:7592911, PMID:9417917, PMID:9441761 ; - oboInOwl:hasDbXref UMLS:C1418858 ; oboInOwl:hasExactSynonym "PPYR1", "npy4r", "pancreatic polypeptide receptor 1", @@ -144963,7 +149032,9 @@ OMIM:601790 a owl:Class ; "y4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5540 ; - skos:exactMatch HGNC_symbol:NPY4R ; + skos:exactMatch UMLS:C1418858, + HGNC:9329, + HGNC_symbol:NPY4R ; biolink:category biolink:Gene . OMIM:601791 a owl:Class ; @@ -144977,14 +149048,15 @@ OMIM:601791 a owl:Class ; PMID:9653144 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:614887 ; - oboInOwl:hasDbXref UMLS:C1418475 ; oboInOwl:hasExactSynonym "PEX14", "nfe2-associated polypeptide 2", "peroxin 14", "peroxisome biogenesis factor 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5195 ; - skos:exactMatch HGNC_symbol:PEX14 ; + skos:exactMatch UMLS:C1418475, + HGNC:8856, + HGNC_symbol:PEX14 ; biolink:category biolink:Gene . OMIM:601793 a owl:Class ; @@ -144994,8 +149066,8 @@ OMIM:601793 a owl:Class ; OMIM:601794 a owl:Class ; rdfs:label "coloboma-obesity-hypogenitalism-mental retardation syndrome" ; IAO:0000142 PMID:9098485 ; - oboInOwl:hasDbXref UMLS:C1866256 ; oboInOwl:hasExactSynonym "coloboma-obesity-hypogenitalism-mental retardation syndrome" ; + skos:exactMatch UMLS:C1866256 ; biolink:category biolink:Disease . OMIM:601795 a owl:Class ; @@ -145018,7 +149090,6 @@ OMIM:601795 a owl:Class ; PMID:9060415, PMID:9155017, PMID:9155018 ; - oboInOwl:hasDbXref UMLS:C1366765 ; oboInOwl:hasExactSynonym "MAPK3", "extracellular signal-regulated kinase 1", "mitogen-activated protein kinase 3", @@ -145027,7 +149098,9 @@ OMIM:601795 a owl:Class ; "protein kinase, mitogen-activated, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5595 ; - skos:exactMatch HGNC_symbol:MAPK3 ; + skos:exactMatch UMLS:C1366765, + HGNC:6877, + HGNC_symbol:MAPK3 ; biolink:category biolink:Gene . OMIM:601796 a owl:Class ; @@ -145038,7 +149111,6 @@ OMIM:601796 a owl:Class ; PMID:23292512, PMID:8942982, PMID:9192867 ; - oboInOwl:hasDbXref UMLS:C1336567 ; oboInOwl:hasExactSynonym "TAF4", "taf2c", "taf4 RNA polymerase ii, tata box-binding protein-associated factor, 135-kd", @@ -145048,7 +149120,9 @@ OMIM:601796 a owl:Class ; "tbp-associated factor, RNA polymerase ii, 130-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6874 ; - skos:exactMatch HGNC_symbol:TAF4 ; + skos:exactMatch UMLS:C1336567, + HGNC:11537, + HGNC_symbol:TAF4 ; biolink:category biolink:Gene . OMIM:601797 a owl:Class ; @@ -145057,13 +149131,14 @@ OMIM:601797 a owl:Class ; PMID:8700511, PMID:9096375, PMID:9716656 ; - oboInOwl:hasDbXref UMLS:C1366649 ; oboInOwl:hasExactSynonym "CRYBG1", "absent 1n melanoma 1", "crystallin beta-gamma domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:202 ; - skos:exactMatch HGNC_symbol:CRYBG1 ; + skos:exactMatch UMLS:C1366649, + HGNC:356, + HGNC_symbol:CRYBG1 ; biolink:category biolink:Gene . OMIM:601798 a owl:Class ; @@ -145074,7 +149149,6 @@ OMIM:601798 a owl:Class ; PMID:7577655, PMID:7584044, PMID:9714720 ; - oboInOwl:hasDbXref UMLS:C1415167 ; oboInOwl:hasExactSynonym "GNPDA1", "glucosamine-6-phosphate deaminase 1", "gnp1", @@ -145083,7 +149157,9 @@ OMIM:601798 a owl:Class ; "oscillin, hamster, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10007 ; - skos:exactMatch HGNC_symbol:GNPDA1 ; + skos:exactMatch UMLS:C1415167, + HGNC:4417, + HGNC_symbol:GNPDA1 ; biolink:category biolink:Gene . OMIM:601799 a owl:Class ; @@ -145094,27 +149170,29 @@ OMIM:601799 a owl:Class ; PMID:8530382, PMID:8910377, PMID:8938458 ; - oboInOwl:hasDbXref UMLS:C1418556 ; oboInOwl:hasExactSynonym "PI9", "cytoplasmic antiproteinase 3", "protease inhibitor 9, ovalbumin iia", "serpin family b, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5272 ; - skos:exactMatch HGNC_symbol:SERPINB9 ; + skos:exactMatch UMLS:C1418556, + HGNC:8955, + HGNC_symbol:SERPINB9 ; biolink:category biolink:Gene . OMIM:601801 a owl:Class ; rdfs:label "SP2" ; IAO:0000142 PMID:1341900, PMID:15820306 ; - oboInOwl:hasDbXref UMLS:C1420333 ; oboInOwl:hasExactSynonym "SP2", "specificity protein 2", "transcription factor sp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6668 ; - skos:exactMatch HGNC_symbol:SP2 ; + skos:exactMatch UMLS:C1420333, + HGNC:11207, + HGNC_symbol:SP2 ; biolink:category biolink:Gene . OMIM:601803 a owl:Class ; @@ -145140,13 +149218,13 @@ OMIM:601803 a owl:Class ; PMID:9056554, PMID:9295085 ; RO:0002525 CHR:9606chr12p ; - oboInOwl:hasDbXref UMLS:C0265449, - UMLS:C2748628 ; oboInOwl:hasExactSynonym "PKS", "hexasomy 12p, mosaic", "isochromosome 12p syndrome", "pallister-killian syndrome", "tetrasomy 12p, mosaic" ; + skos:exactMatch UMLS:C0265449, + UMLS:C2748628 ; biolink:category biolink:Disease . OMIM:601804 a owl:Class ; @@ -145158,14 +149236,15 @@ OMIM:601804 a owl:Class ; PMID:17690209, PMID:8070411, PMID:8938460 ; - oboInOwl:hasDbXref UMLS:C1442756, - UMLS:C2677189 ; oboInOwl:hasExactSynonym "SP3", "sp3/ews fusion gene", "transcription factor sp3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6670 ; - skos:exactMatch HGNC_symbol:SP3 ; + skos:exactMatch UMLS:C1442756, + UMLS:C2677189, + HGNC:11208, + HGNC_symbol:SP3 ; biolink:category biolink:Gene . OMIM:601806 a owl:Class ; @@ -145188,9 +149267,6 @@ OMIM:601806 a owl:Class ; PMID:8977093 ; RO:0002525 CHR:9606chr2q21.3 ; RO:0003303 OMIM:223100 ; - oboInOwl:hasDbXref UMLS:C1334493, - UMLS:C4310828, - UMLS:C4310829 ; oboInOwl:hasExactSynonym "MCM6", "lactase regulatory element", "minichromosome maintenance complex component 6", @@ -145198,7 +149274,11 @@ OMIM:601806 a owl:Class ; "regulatory element, cis-acting, enhancer, 14 kb upstream of lct" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4175 ; - skos:exactMatch HGNC_symbol:MCM6 ; + skos:exactMatch UMLS:C1334493, + UMLS:C4310828, + UMLS:C4310829, + HGNC:6949, + HGNC_symbol:MCM6 ; biolink:category biolink:Gene . OMIM:601808 a owl:Class ; @@ -145224,17 +149304,17 @@ OMIM:601808 a owl:Class ; PMID:9887335, PMID:997544 ; RO:0002525 CHR:9606chr18q ; - oboInOwl:hasDbXref UMLS:C0432443 ; oboInOwl:hasExactSynonym "18q- syndrome", "chromosome 18q deletion syndrome", "chromosome 18q- syndrome" ; + skos:exactMatch UMLS:C0432443 ; biolink:category biolink:Disease . OMIM:601809 a owl:Class ; rdfs:label "spondylospinal thoracic dysostosis" ; IAO:0000142 PMID:9066887 ; - oboInOwl:hasDbXref UMLS:C1866184 ; - oboInOwl:hasExactSynonym "spondylospinal thoracic dysostosis" . + oboInOwl:hasExactSynonym "spondylospinal thoracic dysostosis" ; + skos:exactMatch UMLS:C1866184 . OMIM:601810 a owl:Class ; rdfs:label "DNA2" ; @@ -145246,7 +149326,6 @@ OMIM:601810 a owl:Class ; PMID:8938459 ; RO:0002525 CHR:9606chr10q21.3 ; RO:0003303 OMIM:615156 ; - oboInOwl:hasDbXref UMLS:C1414091 ; oboInOwl:hasExactSynonym "DNA replication helicase 2, yeast, homolog of", "DNA replication helicase/nuclease 2", "DNA2", @@ -145254,14 +149333,16 @@ OMIM:601810 a owl:Class ; "kiaa0083" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1763 ; - skos:exactMatch HGNC_symbol:DNA2 ; + skos:exactMatch UMLS:C1414091, + HGNC:2939, + HGNC_symbol:DNA2 ; biolink:category biolink:Gene . OMIM:601811 a owl:Class ; rdfs:label "premature aging syndrome, okamoto iia" ; IAO:0000142 PMID:9056555 ; - oboInOwl:hasDbXref UMLS:C1866183 ; - oboInOwl:hasExactSynonym "premature aging syndrome, okamoto iia" . + oboInOwl:hasExactSynonym "premature aging syndrome, okamoto iia" ; + skos:exactMatch UMLS:C1866183 . OMIM:601813 a owl:Class ; rdfs:label "exudative vitreoretinopathy 4" ; @@ -145273,11 +149354,11 @@ OMIM:601813 a owl:Class ; PMID:8832721, PMID:9056564, PMID:9831343 ; - oboInOwl:hasDbXref UMLS:C1866176, - ORPHA:891 ; oboInOwl:hasExactSynonym "EVR4", "exudative vitreoretinopathy 4" ; rdfs:subClassOf OMIMPS:133780 ; + skos:exactMatch UMLS:C1866176, + ORPHA:891 ; biolink:category biolink:Disease . OMIM:601814 a owl:Class ; @@ -145292,13 +149373,14 @@ OMIM:601814 a owl:Class ; PMID:9463334 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:154020 ; - oboInOwl:hasDbXref UMLS:C1414875 ; oboInOwl:hasExactSynonym "FXYD2", "fxyd domain-containing ion transport regulator 2", "sodium-potassium-atpase, gamma-1 polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:486 ; - skos:exactMatch HGNC_symbol:FXYD2 ; + skos:exactMatch UMLS:C1414875, + HGNC:4026, + HGNC_symbol:FXYD2 ; biolink:category biolink:Gene . OMIM:601816 a owl:Class ; @@ -145310,9 +149392,9 @@ OMIM:601816 a owl:Class ; PMID:8287538, PMID:8620339, PMID:8696953 ; - oboInOwl:hasDbXref UMLS:C1866173 ; oboInOwl:hasExactSynonym "BILIQTL1", "bilirubin, serum level of, quantitative trait locus 1" ; + skos:exactMatch UMLS:C1866173 ; biolink:category biolink:Disease . OMIM:601817 a owl:Class ; @@ -145321,8 +149403,6 @@ OMIM:601817 a owl:Class ; PMID:30587587, PMID:7638209, PMID:9067290 ; - oboInOwl:hasDbXref UMLS:C1417742, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "NME3", "dr-nm23", "nme/nm23 nucleoside diphosphate kinase 3", @@ -145330,7 +149410,10 @@ OMIM:601817 a owl:Class ; "nonmetastatic protein 23, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4832 ; - skos:exactMatch HGNC_symbol:NME3 ; + skos:exactMatch UMLS:C1417742, + UMLS:C2986382, + HGNC:7851, + HGNC_symbol:NME3 ; biolink:category biolink:Gene . OMIM:601818 a owl:Class ; @@ -145339,7 +149422,6 @@ OMIM:601818 a owl:Class ; PMID:17028143, PMID:24970086, PMID:9099850 ; - oboInOwl:hasDbXref UMLS:C1417743 ; oboInOwl:hasExactSynonym "NME4", "metastasis inhibition factor nm23h4", "nme/nm23 nucleoside diphosphate kinase 4", @@ -145348,7 +149430,9 @@ OMIM:601818 a owl:Class ; "nucleoside diphosphate kinase d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4833 ; - skos:exactMatch HGNC_symbol:NME4 ; + skos:exactMatch UMLS:C1417743, + HGNC:7852, + HGNC_symbol:NME4 ; biolink:category biolink:Gene . OMIM:601819 a owl:Class ; @@ -145364,7 +149448,6 @@ OMIM:601819 a owl:Class ; PMID:8975731 ; RO:0002525 CHR:9606chr17q24.2 ; RO:0003303 OMIM:617755 ; - oboInOwl:hasDbXref UMLS:C1826630 ; oboInOwl:hasExactSynonym "BPTF", "bromodomain and phd domain transcription factor", "bromodomain phd finger transcription factor", @@ -145373,7 +149456,9 @@ OMIM:601819 a owl:Class ; "nurf301, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2186 ; - skos:exactMatch HGNC_symbol:BPTF ; + skos:exactMatch UMLS:C1826630, + HGNC:3581, + HGNC_symbol:BPTF ; biolink:category biolink:Gene . OMIM:601820 a owl:Class ; @@ -145388,12 +149473,6 @@ OMIM:601820 a owl:Class ; PMID:31464105, PMID:8923010, PMID:9356020 ; - oboInOwl:hasDbXref UMLS:C0027773, - UMLS:C2931833, - UMLS:C3888018, - ORPHA:276580, - ORPHA:276603, - ORPHA:79644 ; oboInOwl:hasExactSynonym "HHF2", "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia", "hyperinsulinemic hypoglycemia, familial, 2", @@ -145404,6 +149483,12 @@ OMIM:601820 a owl:Class ; "nesidioblastosis", "persistent hyperinsulinemic hypoglycemia of infancy" ; rdfs:subClassOf OMIMPS:256450 ; + skos:exactMatch UMLS:C0027773, + UMLS:C2931833, + UMLS:C3888018, + ORPHA:276580, + ORPHA:276603, + ORPHA:79644 ; biolink:category biolink:Disease . OMIM:601821 a owl:Class ; @@ -145413,13 +149498,14 @@ OMIM:601821 a owl:Class ; PMID:7520568, PMID:7539809, PMID:8836182 ; - oboInOwl:hasDbXref UMLS:C1419589 ; oboInOwl:hasExactSynonym "RNA polymerase 3 transcript 1", "RNY1", "rna, y1 small cytoplasmic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6084 ; - skos:exactMatch HGNC_symbol:RNY1 ; + skos:exactMatch UMLS:C1419589, + HGNC:10242, + HGNC_symbol:RNY1 ; biolink:category biolink:Gene . OMIM:601822 a owl:Class ; @@ -145428,13 +149514,14 @@ OMIM:601822 a owl:Class ; PMID:6187471, PMID:7520568, PMID:8836182 ; - oboInOwl:hasDbXref UMLS:C1419590 ; oboInOwl:hasExactSynonym "RNA polymerase 3 transcript 3", "RNY3", "rna, y3 small cytoplasmic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6085 ; - skos:exactMatch HGNC_symbol:RNY3 ; + skos:exactMatch UMLS:C1419590, + HGNC:10243, + HGNC_symbol:RNY3 ; biolink:category biolink:Gene . OMIM:601823 a owl:Class ; @@ -145442,26 +149529,28 @@ OMIM:601823 a owl:Class ; IAO:0000142 PMID:16943439, PMID:7520568, PMID:8836182 ; - oboInOwl:hasDbXref UMLS:C1419591 ; oboInOwl:hasExactSynonym "RNA polymerase 3 transcript 4", "RNY4", "rna, y4 small cytoplasmic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6086 ; - skos:exactMatch HGNC_symbol:RNY4 ; + skos:exactMatch UMLS:C1419591, + HGNC:10244, + HGNC_symbol:RNY4 ; biolink:category biolink:Gene . OMIM:601824 a owl:Class ; rdfs:label "RNY5" ; IAO:0000142 PMID:16943439, PMID:8836182 ; - oboInOwl:hasDbXref UMLS:C1419595 ; oboInOwl:hasExactSynonym "RNA polymerase 3 transcript 5", "RNY5", "rna, y5 small cytoplasmic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6090 ; - skos:exactMatch HGNC_symbol:RNY5 ; + skos:exactMatch UMLS:C1419595, + HGNC:10248, + HGNC_symbol:RNY5 ; biolink:category biolink:Gene . OMIM:601825 a owl:Class ; @@ -145474,7 +149563,6 @@ OMIM:601825 a owl:Class ; PMID:8938450 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:618224 ; - oboInOwl:hasDbXref UMLS:C1417650 ; oboInOwl:hasExactSynonym "NDUFS7", "complex i, mitochondrial respiratory chain, 20-kd subunit", "nadh-coenzyme q reductase, 20-kd", @@ -145482,7 +149570,9 @@ OMIM:601825 a owl:Class ; "psst" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374291 ; - skos:exactMatch HGNC_symbol:NDUFS7 ; + skos:exactMatch UMLS:C1417650, + HGNC:7714, + HGNC_symbol:NDUFS7 ; biolink:category biolink:Gene . OMIM:601826 a owl:Class ; @@ -145495,7 +149585,6 @@ OMIM:601826 a owl:Class ; PMID:18267070, PMID:8590280, PMID:8626538 ; - oboInOwl:hasDbXref UMLS:C1414031 ; oboInOwl:hasExactSynonym "DGKD", "dgk isozyme, 130-kd", "dgk-delta", @@ -145503,7 +149592,9 @@ OMIM:601826 a owl:Class ; "kiaa0145" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8527 ; - skos:exactMatch HGNC_symbol:DGKD ; + skos:exactMatch UMLS:C1414031, + HGNC:2851, + HGNC_symbol:DGKD ; biolink:category biolink:Gene . OMIM:601827 a owl:Class ; @@ -145532,7 +149623,6 @@ OMIM:601828 a owl:Class ; PMID:7706727, PMID:7877627, PMID:9092472 ; - oboInOwl:hasDbXref UMLS:C1417836 ; oboInOwl:hasExactSynonym "NR4A2", "nuclear receptor of t cells", "nuclear receptor subfamily 4, group a, member 2", @@ -145540,14 +149630,16 @@ OMIM:601828 a owl:Class ; "transcriptionally inducible nuclear receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4929 ; - skos:exactMatch HGNC_symbol:NR4A2 ; + skos:exactMatch UMLS:C1417836, + HGNC:7981, + HGNC_symbol:NR4A2 ; biolink:category biolink:Gene . OMIM:601829 a owl:Class ; rdfs:label "acrofacial dysostosis, palagonia iia" ; IAO:0000142 PMID:9098488 ; - oboInOwl:hasDbXref UMLS:C1866168 ; - oboInOwl:hasExactSynonym "acrofacial dysostosis, palagonia iia" . + oboInOwl:hasExactSynonym "acrofacial dysostosis, palagonia iia" ; + skos:exactMatch UMLS:C1866168 . OMIM:601830 a owl:Class ; IAO:0100001 OMIM:601770 ; @@ -145557,7 +149649,6 @@ OMIM:601831 a owl:Class ; rdfs:label "HIST2H2BE" ; IAO:0000142 PMID:12408966, PMID:1469070 ; - oboInOwl:hasDbXref UMLS:C1415424 ; oboInOwl:hasExactSynonym "HIST2H2BE", "h2b histone family, member q", "h2b.1", @@ -145567,7 +149658,9 @@ OMIM:601831 a owl:Class ; "histone gene cluster 2, h2be" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8349 ; - skos:exactMatch HGNC_symbol:H2BC21 ; + skos:exactMatch UMLS:C1415424, + HGNC:4760, + HGNC_symbol:H2BC21 ; biolink:category biolink:Gene . OMIM:601832 a owl:Class ; @@ -145577,14 +149670,15 @@ OMIM:601832 a owl:Class ; PMID:8662616, PMID:8662617, PMID:9403071 ; - oboInOwl:hasDbXref UMLS:C1335638 ; oboInOwl:hasExactSynonym "RPL29", "heparin/heparan sulfate-binding protein", "hp/hs-interacting protein", "ribosomal protein l29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6159 ; - skos:exactMatch HGNC_symbol:RPL29 ; + skos:exactMatch UMLS:C1335638, + HGNC:10331, + HGNC_symbol:RPL29 ; biolink:category biolink:Gene . OMIM:601833 a owl:Class ; @@ -145593,14 +149687,15 @@ OMIM:601833 a owl:Class ; PMID:15523649, PMID:8912632, PMID:9614071 ; - oboInOwl:hasDbXref UMLS:C1412299 ; oboInOwl:hasExactSynonym "AIF1", "allograft inflammatory factor 1", "iba1", "interferon response transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199 ; - skos:exactMatch HGNC_symbol:AIF1 ; + skos:exactMatch UMLS:C1412299, + HGNC:352, + HGNC_symbol:AIF1 ; biolink:category biolink:Gene . OMIM:601834 a owl:Class ; @@ -145610,7 +149705,6 @@ OMIM:601834 a owl:Class ; PMID:8816377, PMID:8886020, PMID:9207005 ; - oboInOwl:hasDbXref UMLS:C1332702 ; oboInOwl:hasExactSynonym "CCR8", "chemokine receptor-like 1", "chemokine, cc motif, receptor 8", @@ -145618,7 +149712,9 @@ OMIM:601834 a owl:Class ; "cmkbr8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1237 ; - skos:exactMatch HGNC_symbol:CCR8 ; + skos:exactMatch UMLS:C1332702, + HGNC:1609, + HGNC_symbol:CCR8 ; biolink:category biolink:Gene . OMIM:601835 a owl:Class ; @@ -145636,7 +149732,6 @@ OMIM:601835 a owl:Class ; PMID:9070937, PMID:9223454, PMID:9294137 ; - oboInOwl:hasDbXref UMLS:C1332701 ; oboInOwl:hasExactSynonym "CCR6", "chemokine receptor-like 3", "chemokine, cc motif, receptor 6", @@ -145646,21 +149741,24 @@ OMIM:601835 a owl:Class ; "strl22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1235 ; - skos:exactMatch HGNC_symbol:CCR6 ; + skos:exactMatch UMLS:C1332701, + HGNC:1607, + HGNC_symbol:CCR6 ; biolink:category biolink:Gene . OMIM:601836 a owl:Class ; rdfs:label "KIFAP3" ; IAO:0000142 PMID:19088126, PMID:8900189 ; - oboInOwl:hasDbXref UMLS:C1424717 ; oboInOwl:hasExactSynonym "KIFAP3", "kap3", "kinesin-associated protein 3", "smg gds-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22920 ; - skos:exactMatch HGNC_symbol:KIFAP3 ; + skos:exactMatch UMLS:C1424717, + HGNC:17060, + HGNC_symbol:KIFAP3 ; biolink:category biolink:Gene . OMIM:601837 a owl:Class ; @@ -145687,26 +149785,28 @@ OMIM:601837 a owl:Class ; PMID:9823897 ; RO:0002525 CHR:9606chr13q33.3 ; RO:0003303 OMIM:254500 ; - oboInOwl:hasDbXref UMLS:C1334340 ; oboInOwl:hasExactSynonym "DNA ligase 4", "LIG4", "ligase iv, dna, atp-dependent" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3981 ; - skos:exactMatch HGNC_symbol:LIG4 ; + skos:exactMatch UMLS:C1334340, + HGNC:6601, + HGNC_symbol:LIG4 ; biolink:category biolink:Gene . OMIM:601838 a owl:Class ; rdfs:label "ITPK1" ; IAO:0000142 PMID:11042108, PMID:8662638 ; - oboInOwl:hasDbXref UMLS:C1416515 ; oboInOwl:hasExactSynonym "ITPK1", "inositol 1,3,4-trisphosphate 5/6-kinase", "itrpk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3705 ; - skos:exactMatch HGNC_symbol:ITPK1 ; + skos:exactMatch UMLS:C1416515, + HGNC:6177, + HGNC_symbol:ITPK1 ; biolink:category biolink:Gene . OMIM:601839 a owl:Class ; @@ -145719,7 +149819,6 @@ OMIM:601839 a owl:Class ; PMID:7893599, PMID:8397371, PMID:8798744 ; - oboInOwl:hasDbXref UMLS:C1333341 ; oboInOwl:hasExactSynonym "EPHB3", "eph-like tyrosine kinase 2", "ephrin receptor ephb3", @@ -145727,7 +149826,9 @@ OMIM:601839 a owl:Class ; "tyro6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2049 ; - skos:exactMatch HGNC_symbol:EPHB3 ; + skos:exactMatch UMLS:C1333341, + HGNC:3394, + HGNC_symbol:EPHB3 ; biolink:category biolink:Gene . OMIM:601840 a owl:Class ; @@ -145744,13 +149845,14 @@ OMIM:601841 a owl:Class ; PMID:8381582, PMID:9045852, PMID:9045860 ; - oboInOwl:hasDbXref UMLS:C1418370 ; oboInOwl:hasExactSynonym "SERPINA5", "protein c inhibitor", "serpin peptidase inhibitor, clade a, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5104 ; - skos:exactMatch HGNC_symbol:SERPINA5 ; + skos:exactMatch UMLS:C1418370, + HGNC:8723, + HGNC_symbol:SERPINA5 ; biolink:category biolink:Gene . OMIM:601842 a owl:Class ; @@ -145786,13 +149888,14 @@ OMIM:601843 a owl:Class ; PMID:9814502 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:274400 ; - oboInOwl:hasDbXref UMLS:C1420204 ; oboInOwl:hasExactSynonym "SLC5A5", "sodium-iodide symporter", "solute carrier family 5 (sodium iodide symporter), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6528 ; - skos:exactMatch HGNC_symbol:SLC5A5 ; + skos:exactMatch UMLS:C1420204, + HGNC:11040, + HGNC_symbol:SLC5A5 ; biolink:category biolink:Gene . OMIM:601844 a owl:Class ; @@ -145818,13 +149921,14 @@ OMIM:601844 a owl:Class ; PMID:9171836 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:614491 ; - oboInOwl:hasDbXref UMLS:C1538113 ; oboInOwl:hasExactSynonym "WNK4", "prkwnk4", "protein kinase, lysine-deficient 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65266 ; - skos:exactMatch HGNC_symbol:WNK4 ; + skos:exactMatch UMLS:C1538113, + HGNC:14544, + HGNC_symbol:WNK4 ; biolink:category biolink:Gene . OMIM:601845 a owl:Class ; @@ -145833,13 +149937,14 @@ OMIM:601845 a owl:Class ; PMID:20921407, PMID:9150167, PMID:9700206 ; - oboInOwl:hasDbXref UMLS:C1415317 ; oboInOwl:hasExactSynonym "GSC2", "goosecoid homeobox 2", "goosecoid-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2928 ; - skos:exactMatch HGNC_symbol:GSC2 ; + skos:exactMatch UMLS:C1415317, + HGNC:4613, + HGNC_symbol:GSC2 ; biolink:category biolink:Gene . OMIM:601848 a owl:Class ; @@ -145852,7 +149957,6 @@ OMIM:601848 a owl:Class ; PMID:7584026, PMID:7589431, PMID:8223428 ; - oboInOwl:hasDbXref UMLS:C1427202 ; oboInOwl:hasExactSynonym "TOMM20", "kiaa0016", "mas20, s. cerevisiae, homolog of", @@ -145861,7 +149965,9 @@ OMIM:601848 a owl:Class ; "translocase of outer mitochondrial membrane 20, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9804 ; - skos:exactMatch HGNC_symbol:TOMM20 ; + skos:exactMatch UMLS:C1427202, + HGNC:20947, + HGNC_symbol:TOMM20 ; biolink:category biolink:Gene . OMIM:601849 a owl:Class ; @@ -145913,13 +150019,14 @@ OMIM:601851 a owl:Class ; PMID:9215907, PMID:9616112, PMID:9616122 ; - oboInOwl:hasDbXref UMLS:C1413503 ; oboInOwl:hasExactSynonym "CLOCK", "circadian locomotor output cycles kaput", "clock, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9575 ; - skos:exactMatch HGNC_symbol:CLOCK ; + skos:exactMatch UMLS:C1413503, + HGNC:2082, + HGNC_symbol:CLOCK ; biolink:category biolink:Gene . OMIM:601852 a owl:Class ; @@ -145931,13 +150038,14 @@ OMIM:601852 a owl:Class ; PMID:7794412, PMID:8995416, PMID:9717930 ; - oboInOwl:hasDbXref UMLS:C1415843 ; oboInOwl:hasExactSynonym "ICAM5", "intercellular adhesion molecule 5", "telencephalin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7087 ; - skos:exactMatch HGNC_symbol:ICAM5 ; + skos:exactMatch UMLS:C1415843, + HGNC:5348, + HGNC_symbol:ICAM5 ; biolink:category biolink:Gene . OMIM:601853 a owl:Class ; @@ -145953,11 +150061,11 @@ OMIM:601853 a owl:Class ; PMID:32302043, PMID:7133329, PMID:95427 ; - oboInOwl:hasDbXref UMLS:C0795959, - ORPHA:1532 ; oboInOwl:hasExactSynonym "GLHS", "cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia", "gomez-lopez-hernandez syndrome" ; + skos:exactMatch UMLS:C0795959, + ORPHA:1532 ; biolink:category biolink:Disease . OMIM:601854 a owl:Class ; @@ -145966,7 +150074,6 @@ OMIM:601854 a owl:Class ; PMID:10206945, PMID:8034597, PMID:8248222 ; - oboInOwl:hasDbXref UMLS:C1414033 ; oboInOwl:hasExactSynonym "DGKG", "dagk, 90-kd", "dgk-gamma", @@ -145974,7 +150081,9 @@ OMIM:601854 a owl:Class ; "diacylglycerol kinase, gamma, 90-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1608 ; - skos:exactMatch HGNC_symbol:DGKG ; + skos:exactMatch UMLS:C1414033, + HGNC:2853, + HGNC_symbol:DGKG ; biolink:category biolink:Gene . OMIM:601855 a owl:Class ; @@ -145985,7 +150094,6 @@ OMIM:601855 a owl:Class ; PMID:8810315 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:618459 ; - oboInOwl:hasDbXref UMLS:C1332110 ; oboInOwl:hasExactSynonym "ARHGEF1", "guanine nucleotide exchange factor, 115-kd", "lsc, mouse, homolog of", @@ -145993,19 +150101,22 @@ OMIM:601855 a owl:Class ; "rho guanine nucleotide exchange factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9138 ; - skos:exactMatch HGNC_symbol:ARHGEF1 ; + skos:exactMatch UMLS:C1332110, + HGNC:681, + HGNC_symbol:ARHGEF1 ; biolink:category biolink:Gene . OMIM:601856 a owl:Class ; rdfs:label "ZNF211" ; IAO:0000142 PMID:2505992, PMID:9096115 ; - oboInOwl:hasDbXref UMLS:C1421699 ; oboInOwl:hasExactSynonym "ZNF211", "zinc finger protein 211" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10520 ; - skos:exactMatch HGNC_symbol:ZNF211 ; + skos:exactMatch UMLS:C1421699, + HGNC:13003, + HGNC_symbol:ZNF211 ; biolink:category biolink:Gene . OMIM:601857 a owl:Class ; @@ -146018,12 +150129,13 @@ OMIM:601858 a owl:Class ; PMID:8126001, PMID:9177349, PMID:9434179 ; - oboInOwl:hasDbXref UMLS:C1413483 ; oboInOwl:hasExactSynonym "CLGN", "calmegin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1047 ; - skos:exactMatch HGNC_symbol:CLGN ; + skos:exactMatch UMLS:C1413483, + HGNC:2060, + HGNC_symbol:CLGN ; biolink:category biolink:Gene . OMIM:601860 a owl:Class ; @@ -146057,7 +150169,6 @@ OMIM:601860 a owl:Class ; PMID:9915948 ; RO:0002525 CHR:9606chr5q23.1 ; RO:0003303 OMIM:233400 ; - oboInOwl:hasDbXref UMLS:C1415740 ; oboInOwl:hasExactSynonym "17-beta-hsd 4", "17-beta-hydroxysteroid dehydrogenase 4", "HSD17B4", @@ -146067,7 +150178,9 @@ OMIM:601860 a owl:Class ; "multifunctional protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3295 ; - skos:exactMatch HGNC_symbol:HSD17B4 ; + skos:exactMatch UMLS:C1415740, + HGNC:5213, + HGNC_symbol:HSD17B4 ; biolink:category biolink:Gene . OMIM:601861 a owl:Class ; @@ -146087,14 +150200,15 @@ OMIM:601861 a owl:Class ; PMID:9287236 ; RO:0002525 CHR:9606chr13q13.3 ; RO:0003303 OMIM:209920 ; - oboInOwl:hasDbXref UMLS:C1419365, - UMLS:C1859537 ; oboInOwl:hasExactSynonym "RFXAP", "regulatory factor x-associated protein", "rfx-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5994 ; - skos:exactMatch HGNC_symbol:RFXAP ; + skos:exactMatch UMLS:C1419365, + UMLS:C1859537, + HGNC:9988, + HGNC_symbol:RFXAP ; biolink:category biolink:Gene . OMIM:601862 a owl:Class ; @@ -146117,12 +150231,13 @@ OMIM:601863 a owl:Class ; PMID:9401005 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:209920 ; - oboInOwl:hasDbXref UMLS:C1419363 ; oboInOwl:hasExactSynonym "RFX5", "regulatory factor x, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5993 ; - skos:exactMatch HGNC_symbol:RFX5 ; + skos:exactMatch UMLS:C1419363, + HGNC:9986, + HGNC_symbol:RFX5 ; biolink:category biolink:Gene . OMIM:601864 a owl:Class ; @@ -146140,7 +150255,6 @@ OMIM:601865 a owl:Class ; PMID:9271685 ; RO:0002525 CHR:9606chr3q24 ; RO:0003303 OMIM:609220 ; - oboInOwl:hasDbXref UMLS:C1418652 ; oboInOwl:hasExactSynonym "PLOD2", "lysine hydroxylase 2", "lysyl hydroxylase 2", @@ -146148,7 +150262,9 @@ OMIM:601865 a owl:Class ; "telopeptide lysyl hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5352 ; - skos:exactMatch HGNC_symbol:PLOD2 ; + skos:exactMatch UMLS:C1418652, + HGNC:9082, + HGNC_symbol:PLOD2 ; biolink:category biolink:Gene . OMIM:601866 a owl:Class ; @@ -146162,7 +150278,6 @@ OMIM:601866 a owl:Class ; PMID:20877282, PMID:22019888, PMID:8876214 ; - oboInOwl:hasDbXref UMLS:C1419950 ; oboInOwl:hasExactSynonym "SEMA4D", "collapsin 4", "leukocyte activation antigen cd100", @@ -146170,7 +150285,9 @@ OMIM:601866 a owl:Class ; "semaphorin j" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10507 ; - skos:exactMatch HGNC_symbol:SEMA4D ; + skos:exactMatch UMLS:C1419950, + HGNC:10732, + HGNC_symbol:SEMA4D ; biolink:category biolink:Gene . OMIM:601867 a owl:Class ; @@ -146179,13 +150296,14 @@ OMIM:601867 a owl:Class ; PMID:8798450, PMID:9457675, PMID:9457684 ; - oboInOwl:hasDbXref UMLS:C1412633 ; oboInOwl:hasExactSynonym "ATP1B3", "atpase, na+/k+ transporting, beta-3 polypeptide", "na,k-atpase beta-3 polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:483 ; - skos:exactMatch HGNC_symbol:ATP1B3 ; + skos:exactMatch UMLS:C1412633, + HGNC:806, + HGNC_symbol:ATP1B3 ; biolink:category biolink:Gene . OMIM:601868 a owl:Class ; @@ -146193,10 +150311,10 @@ OMIM:601868 a owl:Class ; IAO:0000142 PMID:10581026, PMID:9106521, PMID:9382104 ; - oboInOwl:hasDbXref UMLS:C1866095 ; oboInOwl:hasExactSynonym "DFNA13", "deafness, autosomal dominant 13" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1866095 ; biolink:category biolink:Disease . OMIM:601870 a owl:Class ; @@ -146207,14 +150325,15 @@ OMIM:601870 a owl:Class ; PMID:8858118, PMID:9177176, PMID:9860943 ; - oboInOwl:hasDbXref UMLS:C1424480 ; oboInOwl:hasExactSynonym "METAP2", "eukaryotic initiation factor 2-associated protein, 67-kd", "methionine aminopeptidase 2", "p67" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10988 ; - skos:exactMatch HGNC_symbol:METAP2 ; + skos:exactMatch UMLS:C1424480, + HGNC:16672, + HGNC_symbol:METAP2 ; biolink:category biolink:Gene . OMIM:601871 a owl:Class ; @@ -146225,7 +150344,6 @@ OMIM:601871 a owl:Class ; PMID:8361751, PMID:8626582, PMID:9286703 ; - oboInOwl:hasDbXref UMLS:C1413767 ; oboInOwl:hasExactSynonym "CSRP2", "cysteine- and glycine-rich protein 2", "cysteine-rich protein 2", @@ -146233,7 +150351,9 @@ OMIM:601871 a owl:Class ; "lim domain only, smooth muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1466 ; - skos:exactMatch HGNC_symbol:CSRP2 ; + skos:exactMatch UMLS:C1413767, + HGNC:2470, + HGNC_symbol:CSRP2 ; biolink:category biolink:Gene . OMIM:601872 a owl:Class ; @@ -146244,14 +150364,15 @@ OMIM:601872 a owl:Class ; PMID:8954799, PMID:9174363, PMID:9225973 ; - oboInOwl:hasDbXref UMLS:C1442752 ; oboInOwl:hasExactSynonym "SLC7A2", "amino acid transporter, cationic 2", "cationic amino acid transporter 2", "solute carrier family 7 (cationic amino acid transporter, y+ system), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6542 ; - skos:exactMatch HGNC_symbol:SLC7A2 ; + skos:exactMatch UMLS:C1442752, + HGNC:11060, + HGNC_symbol:SLC7A2 ; biolink:category biolink:Gene . OMIM:601873 a owl:Class ; @@ -146264,7 +150385,6 @@ OMIM:601873 a owl:Class ; PMID:9858832 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:609195 ; - oboInOwl:hasDbXref UMLS:C1825858 ; oboInOwl:hasExactSynonym "B4GALNT1", "beta-1,4-n-acetylgalactosaminyltransferase", "beta-1,4-n-acetylgalactosaminyltransferase 1", @@ -146272,7 +150392,9 @@ OMIM:601873 a owl:Class ; "gm2/gd2 synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2583 ; - skos:exactMatch HGNC_symbol:B4GALNT1 ; + skos:exactMatch UMLS:C1825858, + HGNC:4117, + HGNC_symbol:B4GALNT1 ; biolink:category biolink:Gene . OMIM:601874 a owl:Class ; @@ -146280,12 +150402,13 @@ OMIM:601874 a owl:Class ; IAO:0000142 PMID:25238757, PMID:28903037, PMID:9108030 ; - oboInOwl:hasDbXref UMLS:C1424720 ; oboInOwl:hasExactSynonym "ELL2", "elongation factor, RNA polymerase ii, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22936 ; - skos:exactMatch HGNC_symbol:ELL2 ; + skos:exactMatch UMLS:C1424720, + HGNC:17064, + HGNC_symbol:ELL2 ; biolink:category biolink:Gene . OMIM:601875 a owl:Class ; @@ -146298,10 +150421,10 @@ OMIM:601876 a owl:Class ; PMID:3461457, PMID:6539947, PMID:9114055 ; - oboInOwl:hasDbXref UMLS:C1420425 ; oboInOwl:hasExactSynonym "SSFA1", "fertilization antigen 1", - "sperm-specific antigen 1" . + "sperm-specific antigen 1" ; + skos:exactMatch UMLS:C1420425 . OMIM:601878 a owl:Class ; rdfs:label "KLF10" ; @@ -146313,7 +150436,6 @@ OMIM:601878 a owl:Class ; PMID:9153278, PMID:9721211, PMID:9745041 ; - oboInOwl:hasDbXref UMLS:C1537488 ; oboInOwl:hasExactSynonym "KLF10", "early growth response-alpha", "kruppel-like factor 10", @@ -146324,7 +150446,9 @@ OMIM:601878 a owl:Class ; "zinc finger transcription factor tieg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7071 ; - skos:exactMatch HGNC_symbol:KLF10 ; + skos:exactMatch UMLS:C1537488, + HGNC:11810, + HGNC_symbol:KLF10 ; biolink:category biolink:Gene . OMIM:601879 a owl:Class ; @@ -146333,14 +150457,15 @@ OMIM:601879 a owl:Class ; PMID:9045665, PMID:9153289, PMID:9642261 ; - oboInOwl:hasDbXref UMLS:C1416836 ; oboInOwl:hasExactSynonym "LGALS9", "ecalectin", "galectin 9", "lectin, galactoside-binding, soluble, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3965 ; - skos:exactMatch HGNC_symbol:LGALS9 ; + skos:exactMatch UMLS:C1416836, + HGNC:6570, + HGNC_symbol:LGALS9 ; biolink:category biolink:Gene . OMIM:601881 a owl:Class ; @@ -146351,13 +150476,14 @@ OMIM:601881 a owl:Class ; PMID:9177348 ; RO:0002525 CHR:9606chr18q21.32 ; RO:0003303 OMIM:611038 ; - oboInOwl:hasDbXref UMLS:C1425688 ; oboInOwl:hasExactSynonym "RAX", "retina and anterior neural fold homeobox gene", "rx homeobox gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30062 ; - skos:exactMatch HGNC_symbol:RAX ; + skos:exactMatch UMLS:C1425688, + HGNC:18662, + HGNC_symbol:RAX ; biolink:category biolink:Gene . OMIM:601882 a owl:Class ; @@ -146366,7 +150492,6 @@ OMIM:601882 a owl:Class ; PMID:9108473, PMID:9564035, PMID:9605855 ; - oboInOwl:hasDbXref UMLS:C1413982 ; oboInOwl:hasExactSynonym "DFFA", "DNA fragmentation factor, 45-kd, alpha subunit", "dff1", @@ -146374,7 +150499,9 @@ OMIM:601882 a owl:Class ; "inhibitor of caspase-activated dnase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1676 ; - skos:exactMatch HGNC_symbol:DFFA ; + skos:exactMatch UMLS:C1413982, + HGNC:2772, + HGNC_symbol:DFFA ; biolink:category biolink:Gene . OMIM:601883 a owl:Class ; @@ -146384,7 +150511,6 @@ OMIM:601883 a owl:Class ; PMID:9108473, PMID:9671700, PMID:9689044 ; - oboInOwl:hasDbXref UMLS:C1413983 ; oboInOwl:hasExactSynonym "DFFB", "DNA fragmentation factor, 40-kd, beta subunit", "caspase-activated dnase", @@ -146393,7 +150519,9 @@ OMIM:601883 a owl:Class ; "dff40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1677 ; - skos:exactMatch HGNC_symbol:DFFB ; + skos:exactMatch UMLS:C1413983, + HGNC:2773, + HGNC_symbol:DFFB ; biolink:category biolink:Gene . OMIM:601884 a owl:Class ; @@ -146411,13 +150539,13 @@ OMIM:601884 a owl:Class ; PMID:9199550, PMID:9199553, PMID:9844108 ; - oboInOwl:hasDbXref UMLS:C1277579, - UMLS:C1866079, - UMLS:C1866080 ; oboInOwl:hasExactSynonym "BMND1", "bone mineral density quantitative trait locus 1", "high bone mass", "osteoporosis, susceptibility to" ; + skos:exactMatch UMLS:C1277579, + UMLS:C1866079, + UMLS:C1866080 ; biolink:category biolink:Disease . OMIM:601886 a owl:Class ; @@ -146426,14 +150554,15 @@ OMIM:601886 a owl:Class ; PMID:24463518, PMID:8090202, PMID:9175731 ; - oboInOwl:hasDbXref UMLS:C1412575 ; oboInOwl:hasExactSynonym "ASCL2", "achaete-scute complex, drosophila, homolog of, 2", "achaete-scute family bhlh transcription factor 2", "achaete-scute homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:430 ; - skos:exactMatch HGNC_symbol:ASCL2 ; + skos:exactMatch UMLS:C1412575, + HGNC:739, + HGNC_symbol:ASCL2 ; biolink:category biolink:Gene . OMIM:601887 a owl:Class ; @@ -146441,24 +150570,25 @@ OMIM:601887 a owl:Class ; IAO:0000142 PMID:11260227, PMID:9175745, PMID:9199552 ; - oboInOwl:hasDbXref UMLS:C1866077, - ORPHA:423 ; oboInOwl:hasExactSynonym "MHS5", "malignant hyperthermia, susceptibility to, 5" ; rdfs:subClassOf OMIMPS:145600 ; + skos:exactMatch UMLS:C1866077, + ORPHA:423 ; biolink:category biolink:Disease . OMIM:601889 a owl:Class ; rdfs:label "NBEAP1" ; IAO:0000142 PMID:9159141 ; - oboInOwl:hasDbXref UMLS:C1412769 ; oboInOwl:hasExactSynonym "NBEAP1", "b-cell cll/lymphoma 8", "b-cell leukemia 8", "neurobeachin pseudogene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:606 ; - skos:exactMatch HGNC_symbol:NBEAP1 ; + skos:exactMatch UMLS:C1412769, + HGNC:1007, + HGNC_symbol:NBEAP1 ; biolink:category biolink:Gene . OMIM:601890 a owl:Class ; @@ -146470,13 +150600,14 @@ OMIM:601890 a owl:Class ; PMID:8247543, PMID:8882711, PMID:9154124 ; - oboInOwl:hasDbXref UMLS:C1335276 ; oboInOwl:hasExactSynonym "PTK7", "colon carcinoma kinase-4", "protein-tyrosine kinase ptk7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5754 ; - skos:exactMatch HGNC_symbol:PTK7 ; + skos:exactMatch UMLS:C1335276, + HGNC:9618, + HGNC_symbol:PTK7 ; biolink:category biolink:Gene . OMIM:601891 a owl:Class ; @@ -146491,14 +150622,15 @@ OMIM:601891 a owl:Class ; PMID:9154125 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:618535 ; - oboInOwl:hasDbXref UMLS:C1413775 ; oboInOwl:hasExactSynonym "CST6", "cystatin 6", "cystatin m", "cystatin m/e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1474 ; - skos:exactMatch HGNC_symbol:CST6 ; + skos:exactMatch UMLS:C1413775, + HGNC:2478, + HGNC_symbol:CST6 ; biolink:category biolink:Gene . OMIM:601892 a owl:Class ; @@ -146507,13 +150639,14 @@ OMIM:601892 a owl:Class ; PMID:17682055, PMID:9154134, PMID:9395085 ; - oboInOwl:hasDbXref UMLS:C1416701 ; oboInOwl:hasExactSynonym "KPNA3", "importin alpha-4", "karyopherin alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3839 ; - skos:exactMatch HGNC_symbol:KPNA3 ; + skos:exactMatch UMLS:C1416701, + HGNC:6396, + HGNC_symbol:KPNA3 ; biolink:category biolink:Gene . OMIM:601893 a owl:Class ; @@ -146528,14 +150661,15 @@ OMIM:601893 a owl:Class ; PMID:9790533 ; RO:0002525 CHR:9606chr5p15.2 ; RO:0003303 OMIM:618825 ; - oboInOwl:hasDbXref UMLS:C1336674, - UMLS:C4310740, - UMLS:C5394205 ; oboInOwl:hasExactSynonym "TRIO", "triple functional domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7204 ; - skos:exactMatch HGNC_symbol:TRIO ; + skos:exactMatch UMLS:C1336674, + UMLS:C4310740, + UMLS:C5394205, + HGNC:12303, + HGNC_symbol:TRIO ; biolink:category biolink:Gene . OMIM:601894 a owl:Class ; @@ -146545,12 +150679,12 @@ OMIM:601894 a owl:Class ; PMID:18268355, PMID:7564073, PMID:7747733 ; - oboInOwl:hasDbXref UMLS:C1866075 ; oboInOwl:hasExactSynonym "GFND2", "fibronectin glomerulopathy", "glomerular nephritis, familial, with fibronectin deposits", "glomerulopathy with fibronectin deposits 2" ; rdfs:subClassOf OMIMPS:137950 ; + skos:exactMatch UMLS:C1866075 ; biolink:category biolink:Disease . OMIM:601895 a owl:Class ; @@ -146576,13 +150710,14 @@ OMIM:601895 a owl:Class ; PMID:8710854, PMID:8999898, PMID:9390694 ; - oboInOwl:hasDbXref UMLS:C1366777 ; oboInOwl:hasExactSynonym "TRAF2", "tnf receptor-associated factor 2", "tnf receptor-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7186 ; - skos:exactMatch HGNC_symbol:TRAF2 ; + skos:exactMatch UMLS:C1366777, + HGNC:12032, + HGNC_symbol:TRAF2 ; biolink:category biolink:Gene . OMIM:601896 a owl:Class ; @@ -146605,7 +150740,6 @@ OMIM:601896 a owl:Class ; PMID:7859281 ; RO:0002525 CHR:9606chr14q32.32 ; RO:0003303 OMIM:614849 ; - oboInOwl:hasDbXref UMLS:C1420888 ; oboInOwl:hasExactSynonym "TRAF3", "cd40 receptor-associated factor 1", "cd40-associated protein 1", @@ -146614,7 +150748,9 @@ OMIM:601896 a owl:Class ; "tnf receptor-associated factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7187 ; - skos:exactMatch HGNC_symbol:TRAF3 ; + skos:exactMatch UMLS:C1420888, + HGNC:12033, + HGNC_symbol:TRAF3 ; biolink:category biolink:Gene . OMIM:601897 a owl:Class ; @@ -146635,7 +150771,6 @@ OMIM:601897 a owl:Class ; PMID:9925940 ; RO:0002525 CHR:9606chr3q21.2 ; RO:0003303 OMIM:617260 ; - oboInOwl:hasDbXref UMLS:C1421639 ; oboInOwl:hasExactSynonym "ZNF148", "ht-beta", "zfp148", @@ -146643,7 +150778,9 @@ OMIM:601897 a owl:Class ; "zinc-binding protein 89" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7707 ; - skos:exactMatch HGNC_symbol:ZNF148 ; + skos:exactMatch UMLS:C1421639, + HGNC:12933, + HGNC_symbol:ZNF148 ; biolink:category biolink:Gene . OMIM:601898 a owl:Class ; @@ -146659,12 +150796,13 @@ OMIM:601898 a owl:Class ; PMID:9092793 ; RO:0002525 CHR:9606chr3q26.31 ; RO:0003303 OMIM:615925 ; - oboInOwl:hasDbXref UMLS:C1415065 ; oboInOwl:hasExactSynonym "GHSR", "growth hormone secretagogue receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2693 ; - skos:exactMatch HGNC_symbol:GHSR ; + skos:exactMatch UMLS:C1415065, + HGNC:4267, + HGNC_symbol:GHSR ; biolink:category biolink:Gene . OMIM:601899 a owl:Class ; @@ -146672,14 +150810,15 @@ OMIM:601899 a owl:Class ; IAO:0000142 PMID:20736164, PMID:8780729, PMID:9407053 ; - oboInOwl:hasDbXref UMLS:C1420451 ; oboInOwl:hasExactSynonym "STAM", "signal-transducing adaptor molecule", "signal-transducing adaptor molecule 1", "stam1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8027 ; - skos:exactMatch HGNC_symbol:STAM ; + skos:exactMatch UMLS:C1420451, + HGNC:11357, + HGNC_symbol:STAM ; biolink:category biolink:Gene . OMIM:601901 a owl:Class ; @@ -146687,14 +150826,15 @@ OMIM:601901 a owl:Class ; IAO:0000142 PMID:10470851, PMID:8021246, PMID:8798769 ; - oboInOwl:hasDbXref UMLS:C1420230 ; oboInOwl:hasExactSynonym "SLC8A2", "kiaa1087", "sodium-calcium exchanger 2", "solute carrier family 8 (sodium-calcium exchanger), member a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6543 ; - skos:exactMatch HGNC_symbol:SLC8A2 ; + skos:exactMatch UMLS:C1420230, + HGNC:11069, + HGNC_symbol:SLC8A2 ; biolink:category biolink:Gene . OMIM:601902 a owl:Class ; @@ -146716,14 +150856,15 @@ OMIM:601902 a owl:Class ; PMID:8943353 ; RO:0002525 CHR:9606chr1p32.3 ; RO:0003303 OMIM:224690 ; - oboInOwl:hasDbXref UMLS:C1335083 ; oboInOwl:hasExactSynonym "ORC1", "orc1-like", "origin recognition complex, subunit 1", "origin recognition complex, subunit 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4998 ; - skos:exactMatch HGNC_symbol:ORC1 ; + skos:exactMatch UMLS:C1335083, + HGNC:8487, + HGNC_symbol:ORC1 ; biolink:category biolink:Gene . OMIM:601903 a owl:Class ; @@ -146744,14 +150885,15 @@ OMIM:601903 a owl:Class ; PMID:9364925 ; RO:0002525 CHR:9606chr4q13.2 ; RO:0003303 OMIM:612560 ; - oboInOwl:hasDbXref UMLS:C1421339 ; oboInOwl:hasExactSynonym "UGT2B17", "udp glucuronosyltransferase 2 family, member b17", "udp glycosyltransferase 2 family, member b17", "uridine diphosphate glycosyltransferase 2 family, member b17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7367 ; - skos:exactMatch HGNC_symbol:UGT2B17 ; + skos:exactMatch UMLS:C1421339, + HGNC:12547, + HGNC_symbol:UGT2B17 ; biolink:category biolink:Gene . OMIM:601904 a owl:Class ; @@ -146767,12 +150909,13 @@ OMIM:601905 a owl:Class ; PMID:8380507, PMID:8490171, PMID:8954794 ; - oboInOwl:hasDbXref UMLS:C1419222 ; oboInOwl:hasExactSynonym "RABGGTA", "rab geranylgeranyl transferase, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5875 ; - skos:exactMatch HGNC_symbol:RABGGTA ; + skos:exactMatch UMLS:C1419222, + HGNC:9795, + HGNC_symbol:RABGGTA ; biolink:category biolink:Gene . OMIM:601906 a owl:Class ; @@ -146790,14 +150933,15 @@ OMIM:601906 a owl:Class ; PMID:9284937 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:617073 ; - oboInOwl:hasDbXref UMLS:C1421511, - UMLS:C2749665, - UMLS:C4310730 ; oboInOwl:hasExactSynonym "WNT10B", "wingless-type mmtv integration site family, member 10b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7480 ; - skos:exactMatch HGNC_symbol:WNT10B ; + skos:exactMatch UMLS:C1421511, + UMLS:C2749665, + UMLS:C4310730, + HGNC:12775, + HGNC_symbol:WNT10B ; biolink:category biolink:Gene . OMIM:601907 a owl:Class ; @@ -146811,46 +150955,50 @@ OMIM:601907 a owl:Class ; PMID:7806578, PMID:9121761, PMID:9169140 ; - oboInOwl:hasDbXref UMLS:C1334874 ; oboInOwl:hasExactSynonym "NEO1", "neogenin", "ngn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4756 ; - skos:exactMatch HGNC_symbol:NEO1 ; + skos:exactMatch UMLS:C1334874, + HGNC:7754, + HGNC_symbol:NEO1 ; biolink:category biolink:Gene . OMIM:601908 a owl:Class ; rdfs:label "GPR20" ; IAO:0000142 PMID:9073069 ; - oboInOwl:hasDbXref UMLS:C1415213 ; oboInOwl:hasExactSynonym "GPR20", "g protein-coupled receptor 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2843 ; - skos:exactMatch HGNC_symbol:GPR20 ; + skos:exactMatch UMLS:C1415213, + HGNC:4475, + HGNC_symbol:GPR20 ; biolink:category biolink:Gene . OMIM:601909 a owl:Class ; rdfs:label "GPR21" ; IAO:0000142 PMID:9073069 ; - oboInOwl:hasDbXref UMLS:C1415214 ; oboInOwl:hasExactSynonym "GPR21", "g protein-coupled receptor 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2844 ; - skos:exactMatch HGNC_symbol:GPR21 ; + skos:exactMatch UMLS:C1415214, + HGNC:4476, + HGNC_symbol:GPR21 ; biolink:category biolink:Gene . OMIM:601910 a owl:Class ; rdfs:label "GPR22" ; IAO:0000142 PMID:9073069 ; - oboInOwl:hasDbXref UMLS:C1415215 ; oboInOwl:hasExactSynonym "GPR22", "g protein-coupled receptor 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2845 ; - skos:exactMatch HGNC_symbol:GPR22 ; + skos:exactMatch UMLS:C1415215, + HGNC:4477, + HGNC_symbol:GPR22 ; biolink:category biolink:Gene . OMIM:601911 a owl:Class ; @@ -146862,14 +151010,15 @@ OMIM:601911 a owl:Class ; PMID:9096128 ; RO:0002525 CHR:9606chr17q21.33 ; RO:0003303 OMIM:616788 ; - oboInOwl:hasDbXref UMLS:C1414078 ; oboInOwl:hasExactSynonym "DLX4", "beta protein 1", "distal-less homeobox 4", "distal-less homeobox 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1748 ; - skos:exactMatch HGNC_symbol:DLX4 ; + skos:exactMatch UMLS:C1414078, + HGNC:2917, + HGNC_symbol:DLX4 ; biolink:category biolink:Gene . OMIM:601912 a owl:Class ; @@ -146895,7 +151044,6 @@ OMIM:601912 a owl:Class ; PMID:9734360 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:613705 ; - oboInOwl:hasDbXref UMLS:C1539895 ; oboInOwl:hasExactSynonym "SUMO1", "pic1", "sentrin", @@ -146905,7 +151053,9 @@ OMIM:601912 a owl:Class ; "ubiquitin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7341 ; - skos:exactMatch HGNC_symbol:SUMO1 ; + skos:exactMatch UMLS:C1539895, + HGNC:12502, + HGNC_symbol:SUMO1 ; biolink:category biolink:Gene . OMIM:601913 a owl:Class ; @@ -146917,7 +151067,6 @@ OMIM:601913 a owl:Class ; PMID:8884272, PMID:9712828, PMID:9736449 ; - oboInOwl:hasDbXref UMLS:C1412587 ; oboInOwl:hasExactSynonym "GET3", "arsa arsenite transporter, atp-binding, e. coli, homolog of, 1", "arsa1", @@ -146925,19 +151074,22 @@ OMIM:601913 a owl:Class ; "transmembrane domain recognition complex, 40-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:439 ; - skos:exactMatch HGNC_symbol:GET3 ; + skos:exactMatch UMLS:C1412587, + HGNC:752, + HGNC_symbol:GET3 ; biolink:category biolink:Gene . OMIM:601914 a owl:Class ; rdfs:label "PRELP" ; IAO:0000142 PMID:7592739, PMID:8954791 ; - oboInOwl:hasDbXref UMLS:C1418884 ; oboInOwl:hasExactSynonym "PRELP", "proline-arginine-rich end leucine-rich repeat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5549 ; - skos:exactMatch HGNC_symbol:PRELP ; + skos:exactMatch UMLS:C1418884, + HGNC:9357, + HGNC_symbol:PRELP ; biolink:category biolink:Gene . OMIM:601915 a owl:Class ; @@ -146947,12 +151099,13 @@ OMIM:601915 a owl:Class ; PMID:9182583, PMID:9190892, PMID:9693046 ; - oboInOwl:hasDbXref UMLS:C1420743 ; oboInOwl:hasExactSynonym "TIMP4", "tissue inhibitor of metalloproteinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7079 ; - skos:exactMatch HGNC_symbol:TIMP4 ; + skos:exactMatch UMLS:C1420743, + HGNC:11823, + HGNC_symbol:TIMP4 ; biolink:category biolink:Gene . OMIM:601916 a owl:Class ; @@ -146961,14 +151114,15 @@ OMIM:601916 a owl:Class ; PMID:8649854, PMID:8971156, PMID:9174057 ; - oboInOwl:hasDbXref UMLS:C1332114 ; oboInOwl:hasExactSynonym "ARMET", "arginine-rich protein", "arginine-rich protein mutated 1n early stage tumors", "mesencephalic astrocyte-derived neurotrophic factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7873 ; - skos:exactMatch HGNC_symbol:MANF ; + skos:exactMatch UMLS:C1332114, + HGNC:15461, + HGNC_symbol:MANF ; biolink:category biolink:Gene . OMIM:601917 a owl:Class ; @@ -146976,14 +151130,15 @@ OMIM:601917 a owl:Class ; IAO:0000142 PMID:7484374, PMID:8890755, PMID:9161417 ; - oboInOwl:hasDbXref UMLS:C1412342 ; oboInOwl:hasExactSynonym "ALDH3B2", "acetaldehyde dehydrogenase 8", "aldehyde dehydrogenase 3 family, member b2", "aldehyde dehydrogenase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222 ; - skos:exactMatch HGNC_symbol:ALDH3B2 ; + skos:exactMatch UMLS:C1412342, + HGNC:411, + HGNC_symbol:ALDH3B2 ; biolink:category biolink:Gene . OMIM:601918 a owl:Class ; @@ -146997,12 +151152,13 @@ OMIM:601918 a owl:Class ; PMID:8849725 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:618014 ; - oboInOwl:hasDbXref UMLS:C1333668 ; oboInOwl:hasExactSynonym "GDF9", "growth/differentiation factor 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2661 ; - skos:exactMatch HGNC_symbol:GDF9 ; + skos:exactMatch UMLS:C1333668, + HGNC:4224, + HGNC_symbol:GDF9 ; biolink:category biolink:Gene . OMIM:601919 a owl:Class ; @@ -147012,14 +151168,15 @@ OMIM:601919 a owl:Class ; PMID:14980205, PMID:9087410, PMID:9716134 ; - oboInOwl:hasDbXref UMLS:C1414507 ; oboInOwl:hasExactSynonym "F2RL2", "coagulation factor 2 receptor-like 2", "protease-activated receptor 3", "thrombin receptor-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2151 ; - skos:exactMatch HGNC_symbol:F2RL2 ; + skos:exactMatch UMLS:C1414507, + HGNC:3539, + HGNC_symbol:F2RL2 ; biolink:category biolink:Gene . OMIM:601920 a owl:Class ; @@ -147062,13 +151219,14 @@ OMIM:601920 a owl:Class ; PMID:9585603 ; RO:0002525 CHR:9606chr20p12.2 ; RO:0003303 OMIM:187500 ; - oboInOwl:hasDbXref UMLS:C1416525 ; oboInOwl:hasExactSynonym "JAG1", "jagged 1", "jagl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:182 ; - skos:exactMatch HGNC_symbol:JAG1 ; + skos:exactMatch UMLS:C1416525, + HGNC:6188, + HGNC_symbol:JAG1 ; biolink:category biolink:Gene . OMIM:601921 a owl:Class ; @@ -147098,13 +151256,14 @@ OMIM:601922 a owl:Class ; PMID:9927494 ; RO:0002525 CHR:9606chr8p23.1 ; RO:0003303 OMIM:619369 ; - oboInOwl:hasDbXref UMLS:C1332089 ; oboInOwl:hasExactSynonym "ANGPT2", "ang2", "angiopoietin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285 ; - skos:exactMatch HGNC_symbol:ANGPT2 ; + skos:exactMatch UMLS:C1332089, + HGNC:485, + HGNC_symbol:ANGPT2 ; biolink:category biolink:Gene . OMIM:601923 a owl:Class ; @@ -147122,14 +151281,15 @@ OMIM:601924 a owl:Class ; PMID:9186507 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:616414 ; - oboInOwl:hasDbXref UMLS:C1413605 ; oboInOwl:hasExactSynonym "COPA", "alpha coat protein", "coatomer protein complex", "coatomer protein complex, subunit alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1314 ; - skos:exactMatch HGNC_symbol:COPA ; + skos:exactMatch UMLS:C1413605, + HGNC:2230, + HGNC_symbol:COPA ; biolink:category biolink:Gene . OMIM:601925 a owl:Class ; @@ -147142,14 +151302,15 @@ OMIM:601925 a owl:Class ; PMID:9186513 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:615244 ; - oboInOwl:hasDbXref UMLS:C1412525 ; oboInOwl:hasExactSynonym "ARHGDIA", "gdp-dissociation inhibitor, aplysia ras-related 1", "rho gdp-dissociation inhibitor alpha", "rhogdi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:396 ; - skos:exactMatch HGNC_symbol:ARHGDIA ; + skos:exactMatch UMLS:C1412525, + HGNC:678, + HGNC_symbol:ARHGDIA ; biolink:category biolink:Gene . OMIM:601926 a owl:Class ; @@ -147163,14 +151324,15 @@ OMIM:601926 a owl:Class ; PMID:9186528, PMID:9371405, PMID:9618526 ; - oboInOwl:hasDbXref UMLS:C1420727 ; oboInOwl:hasExactSynonym "THRSP", "s14", "thyroid hormone-responsive protein", "thyroid hormone-responsive spot14, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7069 ; - skos:exactMatch HGNC_symbol:THRSP ; + skos:exactMatch UMLS:C1420727, + HGNC:11800, + HGNC_symbol:THRSP ; biolink:category biolink:Gene . OMIM:601927 a owl:Class ; @@ -147178,11 +151340,11 @@ OMIM:601927 a owl:Class ; IAO:0000142 PMID:17853470, PMID:19533797, PMID:8957515 ; - oboInOwl:hasDbXref UMLS:C2677167, - ORPHA:86915 ; oboInOwl:hasExactSynonym "irons-bianchi syndrome", "lymphedema, atrial septal defect, and characteristic facies", "lymphedema, cardiac septal defects, and characteristic facies" ; + skos:exactMatch UMLS:C2677167, + ORPHA:86915 ; biolink:category biolink:Disease . OMIM:601928 a owl:Class ; @@ -147201,7 +151363,6 @@ OMIM:601928 a owl:Class ; PMID:9804356 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:158000 ; - oboInOwl:hasDbXref UMLS:C1825773 ; oboInOwl:hasExactSynonym "KRT86", "k2.11", "k86", @@ -147211,7 +151372,9 @@ OMIM:601928 a owl:Class ; "keratin, hard, iia ii, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3892 ; - skos:exactMatch HGNC_symbol:KRT86 ; + skos:exactMatch UMLS:C1825773, + HGNC:6463, + HGNC_symbol:KRT86 ; biolink:category biolink:Gene . OMIM:601929 a owl:Class ; @@ -147224,13 +151387,14 @@ OMIM:601929 a owl:Class ; PMID:9374548, PMID:9593748, PMID:9843705 ; - oboInOwl:hasDbXref UMLS:C1412639 ; oboInOwl:hasExactSynonym "ATP2A3", "atpase, ca(2+)-transporting, ubiquitous", "sarcoplasmic reticulum ca(2+)-atpase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:489 ; - skos:exactMatch HGNC_symbol:ATP2A3 ; + skos:exactMatch UMLS:C1412639, + HGNC:813, + HGNC_symbol:ATP2A3 ; biolink:category biolink:Gene . OMIM:601930 a owl:Class ; @@ -147246,39 +151410,42 @@ OMIM:601930 a owl:Class ; PMID:9099851 ; RO:0002525 CHR:9606chr15q25.2 ; RO:0003303 OMIM:618723 ; - oboInOwl:hasDbXref UMLS:C1538957, - UMLS:C5231474 ; oboInOwl:hasExactSynonym "BNC1", "basonuclin 1", "bnc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:646 ; - skos:exactMatch HGNC_symbol:BNC1 ; + skos:exactMatch UMLS:C1538957, + UMLS:C5231474, + HGNC:1081, + HGNC_symbol:BNC1 ; biolink:category biolink:Gene . OMIM:601931 a owl:Class ; rdfs:label "BCL2L2" ; IAO:0000142 PMID:8761287, PMID:9500547 ; - oboInOwl:hasDbXref UMLS:C1332398 ; oboInOwl:hasExactSynonym "BCL2L2", "bcl2-like 2", "bclw" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:599 ; - skos:exactMatch HGNC_symbol:BCL2L2 ; + skos:exactMatch UMLS:C1332398, + HGNC:995, + HGNC_symbol:BCL2L2 ; biolink:category biolink:Gene . OMIM:601932 a owl:Class ; rdfs:label "MUC8" ; IAO:0000142 PMID:8002930, PMID:9070607 ; - oboInOwl:hasDbXref UMLS:C1417501 ; oboInOwl:hasExactSynonym "MUC8", "mucin 8, tracheobronchial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100129528 ; - skos:exactMatch HGNC_symbol:MUC8 ; + skos:exactMatch UMLS:C1417501, + HGNC:7519, + HGNC_symbol:MUC8 ; biolink:category biolink:Gene . OMIM:601933 a owl:Class ; @@ -147311,13 +151478,14 @@ OMIM:601933 a owl:Class ; PMID:9801304 ; RO:0002525 CHR:9606chr12q23.3 ; RO:0003303 OMIM:614163 ; - oboInOwl:hasDbXref UMLS:C1413724 ; oboInOwl:hasExactSynonym "CRY1", "cryptochrome 1", "photolyase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1407 ; - skos:exactMatch HGNC_symbol:CRY1 ; + skos:exactMatch UMLS:C1413724, + HGNC:2384, + HGNC_symbol:CRY1 ; biolink:category biolink:Gene . OMIM:601934 a owl:Class ; @@ -147326,14 +151494,15 @@ OMIM:601934 a owl:Class ; PMID:25043011, PMID:8943324, PMID:9707402 ; - oboInOwl:hasDbXref UMLS:C1333702 ; oboInOwl:hasExactSynonym "GPS1", "cop9 signalosome, subunit 1", "fus6/cop11, arabidopsis, homolog of", "g protein pathway suppressor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2873 ; - skos:exactMatch HGNC_symbol:GPS1 ; + skos:exactMatch UMLS:C1333702, + HGNC:4549, + HGNC_symbol:GPS1 ; biolink:category biolink:Gene . OMIM:601935 a owl:Class ; @@ -147342,12 +151511,13 @@ OMIM:601935 a owl:Class ; PMID:17895379, PMID:19481530, PMID:8943324 ; - oboInOwl:hasDbXref UMLS:C1333703 ; oboInOwl:hasExactSynonym "GPS2", "g protein pathway suppressor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2874 ; - skos:exactMatch HGNC_symbol:GPS2 ; + skos:exactMatch UMLS:C1333703, + HGNC:4550, + HGNC_symbol:GPS2 ; biolink:category biolink:Gene . OMIM:601936 a owl:Class ; @@ -147357,7 +151527,6 @@ OMIM:601936 a owl:Class ; PMID:20368356, PMID:8943350, PMID:9790775 ; - oboInOwl:hasDbXref UMLS:C1335191 ; oboInOwl:hasExactSynonym "PAWR", "prkc, apoptosis, wt1, regulator", "prostate apoptosis response protein 4", @@ -147365,7 +151534,9 @@ OMIM:601936 a owl:Class ; "wt1-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5074 ; - skos:exactMatch HGNC_symbol:PAWR ; + skos:exactMatch UMLS:C1335191, + HGNC:8614, + HGNC_symbol:PAWR ; biolink:category biolink:Gene . OMIM:601937 a owl:Class ; @@ -147388,7 +151559,6 @@ OMIM:601937 a owl:Class ; PMID:9267036, PMID:9346901, PMID:9727751 ; - oboInOwl:hasDbXref UMLS:C1334868 ; oboInOwl:hasExactSynonym "NCOA3", "actr", "amplified 1n breast cancer 1", @@ -147398,7 +151568,9 @@ OMIM:601937 a owl:Class ; "thyroid hormone receptor activator molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8202 ; - skos:exactMatch HGNC_symbol:NCOA3 ; + skos:exactMatch UMLS:C1334868, + HGNC:7670, + HGNC_symbol:NCOA3 ; biolink:category biolink:Gene . OMIM:601938 a owl:Class ; @@ -147409,7 +151581,6 @@ OMIM:601939 a owl:Class ; rdfs:label "SRPK1" ; IAO:0000142 PMID:10198174, PMID:8208298 ; - oboInOwl:hasDbXref UMLS:C1420412 ; oboInOwl:hasExactSynonym "SRPK1", "protein kinase, arginine/serine-rich splicing factor, 1", "protein kinase, serine/arginine-specific, 1", @@ -147417,7 +151588,9 @@ OMIM:601939 a owl:Class ; "srsf protein kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6732 ; - skos:exactMatch HGNC_symbol:SRPK1 ; + skos:exactMatch UMLS:C1420412, + HGNC:11305, + HGNC_symbol:SRPK1 ; biolink:category biolink:Gene . OMIM:601940 a owl:Class ; @@ -147425,7 +151598,6 @@ OMIM:601940 a owl:Class ; IAO:0000142 PMID:14578391, PMID:17361132, PMID:8321209 ; - oboInOwl:hasDbXref UMLS:C1419995 ; oboInOwl:hasExactSynonym "SRSF4", "serine/arginine-rich splicing factor 4", "splicing factor, arginine/serine-rich, 4", @@ -147433,7 +151605,9 @@ OMIM:601940 a owl:Class ; "splicing factor, serine/arginine-rich, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6429 ; - skos:exactMatch HGNC_symbol:SRSF4 ; + skos:exactMatch UMLS:C1419995, + HGNC:10786, + HGNC_symbol:SRSF4 ; biolink:category biolink:Gene . OMIM:601943 a owl:Class ; @@ -147442,7 +151616,6 @@ OMIM:601943 a owl:Class ; PMID:10931943, PMID:11875052, PMID:7556075 ; - oboInOwl:hasDbXref UMLS:C1420000 ; oboInOwl:hasExactSynonym "SRSF9", "serine/arginine-rich splicing factor 9", "splicing factor, arginine/serine-rich, 30-kd, c", @@ -147450,14 +151623,15 @@ OMIM:601943 a owl:Class ; "splicing factor, serine/arginine-rich, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8683 ; - skos:exactMatch HGNC_symbol:SRSF9 ; + skos:exactMatch UMLS:C1420000, + HGNC:10791, + HGNC_symbol:SRSF9 ; biolink:category biolink:Gene . OMIM:601944 a owl:Class ; rdfs:label "SRSF6" ; IAO:0000142 PMID:17361132, PMID:7556075 ; - oboInOwl:hasDbXref UMLS:C1419997 ; oboInOwl:hasExactSynonym "SRSF6", "serine/arginine-rich splicing factor 6", "splicing factor, arginine/serine-rich, 55-kd", @@ -147465,7 +151639,9 @@ OMIM:601944 a owl:Class ; "splicing factor, serine/arginine-rich, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6431 ; - skos:exactMatch HGNC_symbol:SRSF6 ; + skos:exactMatch UMLS:C1419997, + HGNC:10788, + HGNC_symbol:SRSF6 ; biolink:category biolink:Gene . OMIM:601945 a owl:Class ; @@ -147474,14 +151650,15 @@ OMIM:601945 a owl:Class ; PMID:3443103, PMID:8206918, PMID:8940107 ; - oboInOwl:hasDbXref UMLS:C1419999 ; oboInOwl:hasExactSynonym "SFSWAP", "splicing factor, arginine/serine-rich, 8", "splicing factor, suppressor-of-white-apricot family", "suppressor-of-white-apricot, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6433 ; - skos:exactMatch HGNC_symbol:SFSWAP ; + skos:exactMatch UMLS:C1419999, + HGNC:10790, + HGNC_symbol:SFSWAP ; biolink:category biolink:Gene . OMIM:601946 a owl:Class ; @@ -147491,13 +151668,14 @@ OMIM:601946 a owl:Class ; OMIM:601947 a owl:Class ; rdfs:label "SOX12" ; IAO:0000142 PMID:9215677 ; - oboInOwl:hasDbXref UMLS:C1420325 ; oboInOwl:hasExactSynonym "SOX12", "sry-box 12", "sry-box 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6666 ; - skos:exactMatch HGNC_symbol:SOX12 ; + skos:exactMatch UMLS:C1420325, + HGNC:11198, + HGNC_symbol:SOX12 ; biolink:category biolink:Gene . OMIM:601948 a owl:Class ; @@ -147516,12 +151694,13 @@ OMIM:601949 a owl:Class ; PMID:9628818 ; RO:0002525 CHR:9606chr2q23.3 ; RO:0003303 OMIM:607682 ; - oboInOwl:hasDbXref UMLS:C1413070 ; oboInOwl:hasExactSynonym "CACNB4", "calcium channel, voltage-dependent, beta-4 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:785 ; - skos:exactMatch HGNC_symbol:CACNB4 ; + skos:exactMatch UMLS:C1413070, + HGNC:1404, + HGNC_symbol:CACNB4 ; biolink:category biolink:Gene . OMIM:601950 a owl:Class ; @@ -147531,14 +151710,15 @@ OMIM:601950 a owl:Class ; PMID:12483298, PMID:14656885, PMID:9230307 ; - oboInOwl:hasDbXref UMLS:C1426391 ; oboInOwl:hasExactSynonym "ZFPM1", "fog1", "friend of gata1", "zinc finger protein, multitype 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161882 ; - skos:exactMatch HGNC_symbol:ZFPM1 ; + skos:exactMatch UMLS:C1426391, + HGNC:19762, + HGNC_symbol:ZFPM1 ; biolink:category biolink:Gene . OMIM:601951 a owl:Class ; @@ -147550,7 +151730,6 @@ OMIM:601951 a owl:Class ; PMID:7990150, PMID:8798720, PMID:9856501 ; - oboInOwl:hasDbXref UMLS:C1413489 ; oboInOwl:hasExactSynonym "CLK1", "cdc-like kinase 1", "cdc28/cdc2-like kinase", @@ -147559,7 +151738,9 @@ OMIM:601951 a owl:Class ; "protein-tyrosine kinase sty" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1195 ; - skos:exactMatch HGNC_symbol:CLK1 ; + skos:exactMatch UMLS:C1413489, + HGNC:2068, + HGNC_symbol:CLK1 ; biolink:category biolink:Gene . OMIM:601952 a owl:Class ; @@ -147567,10 +151748,10 @@ OMIM:601952 a owl:Class ; IAO:0000142 PMID:20226437, PMID:2521286, PMID:9188877 ; - oboInOwl:hasDbXref UMLS:C1866029 ; oboInOwl:hasExactSynonym "KLICK", "keratosis linearis with ichthyosis congenita and sclerosing keratoderma", "klick syndrome" ; + skos:exactMatch UMLS:C1866029 ; biolink:category biolink:Disease . OMIM:601953 a owl:Class ; @@ -147580,14 +151761,15 @@ OMIM:601953 a owl:Class ; PMID:8069918, PMID:8941715, PMID:9465303 ; - oboInOwl:hasDbXref UMLS:C1413181 ; oboInOwl:hasExactSynonym "CCNH", "cdk-activating kinase", "cyclin h", "cyclin-dependent kinase-activating kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:902 ; - skos:exactMatch HGNC_symbol:CCNH ; + skos:exactMatch UMLS:C1413181, + HGNC:1594, + HGNC_symbol:CCNH ; biolink:category biolink:Gene . OMIM:601955 a owl:Class ; @@ -147599,7 +151781,6 @@ OMIM:601955 a owl:Class ; PMID:7533895, PMID:8069918, PMID:8208544 ; - oboInOwl:hasDbXref UMLS:C1413288 ; oboInOwl:hasExactSynonym "CDK7", "cell division protein kinase 7", "cyclin-dependent kinase 7", @@ -147608,7 +151789,9 @@ OMIM:601955 a owl:Class ; "serine/threonine protein kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1022 ; - skos:exactMatch HGNC_symbol:CDK7 ; + skos:exactMatch UMLS:C1413288, + HGNC:1778, + HGNC_symbol:CDK7 ; biolink:category biolink:Gene . OMIM:601956 a owl:Class ; @@ -147619,21 +151802,22 @@ OMIM:601956 a owl:Class ; PMID:9182803, PMID:9192898, PMID:9259272 ; - oboInOwl:hasDbXref UMLS:C1333672 ; oboInOwl:hasExactSynonym "GFRA2", "gdnf family receptor alpha-2", "glial cell line-derived neurotrophic factor receptor beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2675 ; - skos:exactMatch HGNC_symbol:GFRA2 ; + skos:exactMatch UMLS:C1333672, + HGNC:4244, + HGNC_symbol:GFRA2 ; biolink:category biolink:Gene . OMIM:601957 a owl:Class ; rdfs:label "odontotrichoungual-digital-palmar syndrome" ; IAO:0000142 PMID:9217212 ; - oboInOwl:hasDbXref UMLS:C1865998 ; oboInOwl:hasExactSynonym "odontotrichoungual-digital-palmar syndrome", - "otudp syndrome" . + "otudp syndrome" ; + skos:exactMatch UMLS:C1865998 . OMIM:601958 a owl:Class ; rdfs:label "CACNB3" ; @@ -147643,26 +151827,28 @@ OMIM:601958 a owl:Class ; PMID:7557998, PMID:8119293, PMID:9254840 ; - oboInOwl:hasDbXref UMLS:C1413069 ; oboInOwl:hasExactSynonym "CACNB3", "calcium channel, 50 type, beta-3 polypeptide", "calcium channel, voltage-dependent, beta-3 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:784 ; - skos:exactMatch HGNC_symbol:CACNB3 ; + skos:exactMatch UMLS:C1413069, + HGNC:1403, + HGNC_symbol:CACNB3 ; biolink:category biolink:Gene . OMIM:601959 a owl:Class ; rdfs:label "NEK4" ; IAO:0000142 PMID:8208544 ; - oboInOwl:hasDbXref UMLS:C1420472 ; oboInOwl:hasExactSynonym "NEK4", "never 1n mitosis gene a-related kinase 4", "nima-related kinase 4", "serine/threonine protein kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6787 ; - skos:exactMatch HGNC_symbol:NEK4 ; + skos:exactMatch UMLS:C1420472, + HGNC:11399, + HGNC_symbol:NEK4 ; biolink:category biolink:Gene . OMIM:601960 a owl:Class ; @@ -147677,7 +151863,6 @@ OMIM:601960 a owl:Class ; PMID:9013939, PMID:9038201, PMID:9129037 ; - oboInOwl:hasDbXref UMLS:C1366524 ; oboInOwl:hasExactSynonym "CCL20", "chemokine, cc motif, ligand 20", "exodus 1", @@ -147686,7 +151871,9 @@ OMIM:601960 a owl:Class ; "small inducible cytokine subfamily a, member 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6364 ; - skos:exactMatch HGNC_symbol:CCL20 ; + skos:exactMatch UMLS:C1366524, + HGNC:10619, + HGNC_symbol:CCL20 ; biolink:category biolink:Gene . OMIM:601961 a owl:Class ; @@ -147695,14 +151882,15 @@ OMIM:601961 a owl:Class ; PMID:8663146, PMID:9196002, PMID:9545638 ; - oboInOwl:hasDbXref UMLS:C1826698 ; oboInOwl:hasExactSynonym "PRMT2", "heterogeneous nuclear ribonucleoprotein methyltransferase 1-like 1", "hmt1-like 1", "protein arginine methyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3275 ; - skos:exactMatch HGNC_symbol:PRMT2 ; + skos:exactMatch UMLS:C1826698, + HGNC:5186, + HGNC_symbol:PRMT2 ; biolink:category biolink:Gene . OMIM:601962 a owl:Class ; @@ -147717,25 +151905,27 @@ OMIM:601962 a owl:Class ; PMID:9521053 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:604571 ; - oboInOwl:hasDbXref UMLS:C1420583 ; oboInOwl:hasExactSynonym "TAPBP", "tap-binding protein", "tapasin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6892 ; - skos:exactMatch HGNC_symbol:TAPBP ; + skos:exactMatch UMLS:C1420583, + HGNC:11566, + HGNC_symbol:TAPBP ; biolink:category biolink:Gene . OMIM:601963 a owl:Class ; rdfs:label "TTC1" ; IAO:0000142 PMID:8836031 ; - oboInOwl:hasDbXref UMLS:C1421212 ; oboInOwl:hasExactSynonym "TTC1", "tetratricopeptide repeat domain-containing protein 1", "tpr1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7265 ; - skos:exactMatch HGNC_symbol:TTC1 ; + skos:exactMatch UMLS:C1421212, + HGNC:12391, + HGNC_symbol:TTC1 ; biolink:category biolink:Gene . OMIM:601964 a owl:Class ; @@ -147744,7 +151934,6 @@ OMIM:601964 a owl:Class ; PMID:11147971, PMID:11161808, PMID:8836031 ; - oboInOwl:hasDbXref UMLS:C1421213 ; oboInOwl:hasExactSynonym "DNAJC7", "dj11", "dnaj/hsp40 homolog, subfamily c, member 7", @@ -147752,7 +151941,9 @@ OMIM:601964 a owl:Class ; "tpr2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7266 ; - skos:exactMatch HGNC_symbol:DNAJC7 ; + skos:exactMatch UMLS:C1421213, + HGNC:12392, + HGNC_symbol:DNAJC7 ; biolink:category biolink:Gene . OMIM:601965 a owl:Class ; @@ -147766,26 +151957,28 @@ OMIM:601965 a owl:Class ; PMID:18305483, PMID:8878560, PMID:9409733 ; - oboInOwl:hasDbXref UMLS:C1414255 ; oboInOwl:hasExactSynonym "S1PR3", "endothelial differentiation gene 3", "s1p receptor 3", "sphingosine-1-phosphate receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1903 ; - skos:exactMatch HGNC_symbol:S1PR3 ; + skos:exactMatch UMLS:C1414255, + HGNC:3167, + HGNC_symbol:S1PR3 ; biolink:category biolink:Gene . OMIM:601966 a owl:Class ; rdfs:label "RSC1A1" ; IAO:0000142 PMID:8836035 ; - oboInOwl:hasDbXref UMLS:C1419765 ; oboInOwl:hasExactSynonym "RSC1A1", "regulatory solute carrier protein, family 1, member 1", "rs1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6248 ; - skos:exactMatch HGNC_symbol:RSC1A1 ; + skos:exactMatch UMLS:C1419765, + HGNC:10458, + HGNC_symbol:RSC1A1 ; biolink:category biolink:Gene . OMIM:601967 a owl:Class ; @@ -147796,12 +151989,13 @@ OMIM:601967 a owl:Class ; PMID:2279700, PMID:8168088, PMID:9284940 ; - oboInOwl:hasDbXref UMLS:C1421517 ; oboInOwl:hasExactSynonym "WNT7B", "wingless-type mmtv integration site family, member 7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7477 ; - skos:exactMatch HGNC_symbol:WNT7B ; + skos:exactMatch UMLS:C1421517, + HGNC:12787, + HGNC_symbol:WNT7B ; biolink:category biolink:Gene . OMIM:601968 a owl:Class ; @@ -147812,14 +152006,15 @@ OMIM:601968 a owl:Class ; PMID:8761309 ; RO:0002525 CHR:9606chr1p13.2 ; RO:0003303 OMIM:618168 ; - oboInOwl:hasDbXref UMLS:C1421515 ; oboInOwl:hasExactSynonym "WNT2B", "wingless-type mmtv integration site family, member 13, formerly", "wingless-type mmtv integration site family, member 2b", "xwnt2, xenopus, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7482 ; - skos:exactMatch HGNC_symbol:WNT2B ; + skos:exactMatch UMLS:C1421515, + HGNC:12781, + HGNC_symbol:WNT2B ; biolink:category biolink:Gene . OMIM:601969 a owl:Class ; @@ -147832,7 +152027,6 @@ OMIM:601969 a owl:Class ; PMID:9153228, PMID:9288095, PMID:9681833 ; - oboInOwl:hasDbXref UMLS:C1333227 ; oboInOwl:hasExactSynonym "DMBT1", "deleted 1n malignant brain tumors 1", "glycoprotein 340", @@ -147840,7 +152034,9 @@ OMIM:601969 a owl:Class ; "surfactant, pulmonary-associated protein d-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1755 ; - skos:exactMatch HGNC_symbol:DMBT1 ; + skos:exactMatch UMLS:C1333227, + HGNC:2926, + HGNC_symbol:DMBT1 ; biolink:category biolink:Gene . OMIM:601970 a owl:Class ; @@ -147851,12 +152047,13 @@ OMIM:601970 a owl:Class ; PMID:7733904, PMID:7811244, PMID:8938447 ; - oboInOwl:hasDbXref UMLS:C1421452 ; oboInOwl:hasExactSynonym "VIPR2", "vasoactive intestinal peptide receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7434 ; - skos:exactMatch HGNC_symbol:VIPR2 ; + skos:exactMatch UMLS:C1421452, + HGNC:12695, + HGNC_symbol:VIPR2 ; biolink:category biolink:Gene . OMIM:601971 a owl:Class ; @@ -147875,7 +152072,6 @@ OMIM:601972 a owl:Class ; PMID:9670004 ; RO:0002525 CHR:9606chr9q21.13 ; RO:0003303 OMIM:618357 ; - oboInOwl:hasDbXref UMLS:C1419602 ; oboInOwl:hasExactSynonym "RORB", "rar-related orphan receptor B", "rar-related orphan receptor beta", @@ -147883,7 +152079,9 @@ OMIM:601972 a owl:Class ; "rzr-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6096 ; - skos:exactMatch HGNC_symbol:RORB ; + skos:exactMatch UMLS:C1419602, + HGNC:10259, + HGNC_symbol:RORB ; biolink:category biolink:Gene . OMIM:601973 a owl:Class ; @@ -147894,14 +152092,15 @@ OMIM:601973 a owl:Class ; PMID:15728234, PMID:18794339, PMID:9204961 ; - oboInOwl:hasDbXref UMLS:C1419274 ; oboInOwl:hasExactSynonym "RARRES2", "chemerin", "retinoic acid receptor responder 2", "tazarotene-induced gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5919 ; - skos:exactMatch HGNC_symbol:RARRES2 ; + skos:exactMatch UMLS:C1419274, + HGNC:9868, + HGNC_symbol:RARRES2 ; biolink:category biolink:Gene . OMIM:601974 a owl:Class ; @@ -147926,14 +152125,15 @@ OMIM:601974 a owl:Class ; PMID:28538737, PMID:9226368, PMID:9488656 ; - oboInOwl:hasDbXref UMLS:C1414253 ; oboInOwl:hasExactSynonym "S1PR1", "edg1 s1p receptor 1", "endothelial differentiation gene 1", "sphingosine-1-phosphate receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1901 ; - skos:exactMatch HGNC_symbol:S1PR1 ; + skos:exactMatch UMLS:C1414253, + HGNC:3165, + HGNC_symbol:S1PR1 ; biolink:category biolink:Gene . OMIM:601975 a owl:Class ; @@ -147951,32 +152151,33 @@ OMIM:601975 a owl:Class ; PMID:9721216 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:604536 ; - oboInOwl:hasDbXref UMLS:C1418612, - UMLS:C1858302 ; oboInOwl:hasExactSynonym "PKP1", "plakophilin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5317 ; - skos:exactMatch HGNC_symbol:PKP1 ; + skos:exactMatch UMLS:C1418612, + UMLS:C1858302, + HGNC:9023, + HGNC_symbol:PKP1 ; biolink:category biolink:Gene . OMIM:601976 a owl:Class ; rdfs:label "otofacioosseous-gonadal syndrome" ; IAO:0000142 PMID:9272713 ; - oboInOwl:hasDbXref UMLS:C1865988 ; - oboInOwl:hasExactSynonym "otofacioosseous-gonadal syndrome" . + oboInOwl:hasExactSynonym "otofacioosseous-gonadal syndrome" ; + skos:exactMatch UMLS:C1865988 . OMIM:601977 a owl:Class ; rdfs:label "thrombocythemia 2" ; IAO:0000142 PMID:14764528, PMID:15269348, PMID:16868251 ; - oboInOwl:hasDbXref UMLS:C3275998, - ORPHA:3318, - ORPHA:71493 ; oboInOwl:hasExactSynonym "THCYT2", "thrombocythemia 2" ; rdfs:subClassOf OMIMPS:187950 ; + skos:exactMatch UMLS:C3275998, + ORPHA:3318, + ORPHA:71493 ; biolink:category biolink:Disease . OMIM:601978 a owl:Class ; @@ -148001,45 +152202,48 @@ OMIM:601978 a owl:Class ; PMID:9453537 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:605726 ; - oboInOwl:hasDbXref UMLS:C1417966 ; oboInOwl:hasExactSynonym "SIGMAR1", "sigma nonopioid intracellular receptor 1", "sigma receptor, iia 1", "sr31747a-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10280 ; - skos:exactMatch HGNC_symbol:SIGMAR1 ; + skos:exactMatch UMLS:C1417966, + HGNC:8157, + HGNC_symbol:SIGMAR1 ; biolink:category biolink:Gene . OMIM:601979 a owl:Class ; rdfs:label "hyperzincemia with functional zinc depletion" ; IAO:0000142 PMID:14488490 ; - oboInOwl:hasDbXref UMLS:C1865986 ; - oboInOwl:hasExactSynonym "hyperzincemia with functional zinc depletion" . + oboInOwl:hasExactSynonym "hyperzincemia with functional zinc depletion" ; + skos:exactMatch UMLS:C1865986 . OMIM:601980 a owl:Class ; rdfs:label "LIPF" ; IAO:0000142 PMID:3304425, PMID:9186906 ; - oboInOwl:hasDbXref UMLS:C1416869 ; oboInOwl:hasExactSynonym "LIPF", "gastric triacylglycerol lipase", "lipase, gastric" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8513 ; - skos:exactMatch HGNC_symbol:LIPF ; + skos:exactMatch UMLS:C1416869, + HGNC:6622, + HGNC_symbol:LIPF ; biolink:category biolink:Gene . OMIM:601981 a owl:Class ; rdfs:label "RNASE6" ; IAO:0000142 PMID:8836175 ; - oboInOwl:hasDbXref UMLS:C1419411 ; oboInOwl:hasExactSynonym "RNASE6", "ribonuclease, rnase a family, 6", "rnase k6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6039 ; - skos:exactMatch HGNC_symbol:RNASE6 ; + skos:exactMatch UMLS:C1419411, + HGNC:10048, + HGNC_symbol:RNASE6 ; biolink:category biolink:Gene . OMIM:601982 a owl:Class ; @@ -148063,26 +152267,28 @@ OMIM:601982 a owl:Class ; PMID:9681819 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:144700 ; - oboInOwl:hasDbXref UMLS:C1335081 ; oboInOwl:hasExactSynonym "8-hydroxyguanine DNA glycosylase", "8-oxoguanine DNA glycosylase", "OGG1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4968 ; - skos:exactMatch HGNC_symbol:OGG1 ; + skos:exactMatch UMLS:C1335081, + HGNC:8125, + HGNC_symbol:OGG1 ; biolink:category biolink:Gene . OMIM:601983 a owl:Class ; rdfs:label "MAP4K1" ; IAO:0000142 PMID:8824585, PMID:9003777 ; - oboInOwl:hasDbXref UMLS:C1417018 ; oboInOwl:hasExactSynonym "MAP4K1", "hematopoietic progenitor kinase 1", "mitogen-activated protein kinase kinase kinase kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11184 ; - skos:exactMatch HGNC_symbol:MAP4K1 ; + skos:exactMatch UMLS:C1417018, + HGNC:6863, + HGNC_symbol:MAP4K1 ; biolink:category biolink:Gene . OMIM:601985 a owl:Class ; @@ -148098,9 +152304,6 @@ OMIM:601985 a owl:Class ; PMID:3600795, PMID:7753554, PMID:9083029 ; - oboInOwl:hasDbXref UMLS:C1425774, - UMLS:C1865982, - UMLS:C1868260 ; oboInOwl:hasExactSynonym "CCDC6", "coiled-coil domain-containing protein 6", "d10s170", @@ -148111,7 +152314,11 @@ OMIM:601985 a owl:Class ; "transforming sequence, thyroid 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8030 ; - skos:exactMatch HGNC_symbol:CCDC6 ; + skos:exactMatch UMLS:C1425774, + UMLS:C1865982, + UMLS:C1868260, + HGNC:18782, + HGNC_symbol:CCDC6 ; biolink:category biolink:Gene . OMIM:601986 a owl:Class ; @@ -148126,7 +152333,6 @@ OMIM:601987 a owl:Class ; PMID:9070950, PMID:9199240, PMID:9224698 ; - oboInOwl:hasDbXref UMLS:C1413689 ; oboInOwl:hasExactSynonym "CPT1B", "carnitine palmitoyltransferase i, muscle", "cpt 1b", @@ -148135,7 +152341,9 @@ OMIM:601987 a owl:Class ; "mccpt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1375 ; - skos:exactMatch HGNC_symbol:CPT1B ; + skos:exactMatch UMLS:C1413689, + HGNC:2329, + HGNC_symbol:CPT1B ; biolink:category biolink:Gene . OMIM:601988 a owl:Class ; @@ -148143,23 +152351,25 @@ OMIM:601988 a owl:Class ; IAO:0000142 PMID:10436159, PMID:8537403, PMID:8954941 ; - oboInOwl:hasDbXref UMLS:C1416863 ; oboInOwl:hasExactSynonym "LIMK2", "lim domain kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3985 ; - skos:exactMatch HGNC_symbol:LIMK2 ; + skos:exactMatch UMLS:C1416863, + HGNC:6614, + HGNC_symbol:LIMK2 ; biolink:category biolink:Gene . OMIM:601989 a owl:Class ; rdfs:label "S100A13" ; IAO:0000142 PMID:8878558 ; - oboInOwl:hasDbXref UMLS:C1419783 ; oboInOwl:hasExactSynonym "S100A13", "s100 calcium-binding protein a13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6284 ; - skos:exactMatch HGNC_symbol:S100A13 ; + skos:exactMatch UMLS:C1419783, + HGNC:10490, + HGNC_symbol:S100A13 ; biolink:category biolink:Gene . OMIM:601990 a owl:Class ; @@ -148193,14 +152403,15 @@ OMIM:601990 a owl:Class ; PMID:9802988 ; RO:0002525 CHR:9606chr1p36.32 ; RO:0003303 OMIM:619466 ; - oboInOwl:hasDbXref UMLS:C0812244 ; oboInOwl:hasExactSynonym "TP73", "p53-related protein p73", "trp73, mouse, homolog of", "tumor protein p73" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7161 ; - skos:exactMatch HGNC_symbol:TP73 ; + skos:exactMatch UMLS:C0812244, + HGNC:12003, + HGNC_symbol:TP73 ; biolink:category biolink:Gene . OMIM:601991 a owl:Class ; @@ -148215,17 +152426,18 @@ OMIM:601991 a owl:Class ; PMID:9789075 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:618859 ; - oboInOwl:hasDbXref UMLS:C1334891, - UMLS:C5394569, - UMLS:C5394570, - UMLS:C5394571 ; oboInOwl:hasExactSynonym "NOVA2", "astrocytic nova1-like gene", "neurooncologic ventral antigen 2", "nova alternative splicing regulator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4858 ; - skos:exactMatch HGNC_symbol:NOVA2 ; + skos:exactMatch UMLS:C1334891, + UMLS:C5394569, + UMLS:C5394570, + UMLS:C5394571, + HGNC:7887, + HGNC_symbol:NOVA2 ; biolink:category biolink:Gene . OMIM:601993 a owl:Class ; @@ -148244,7 +152456,6 @@ OMIM:601993 a owl:Class ; PMID:9111344, PMID:9558366, PMID:9731070 ; - oboInOwl:hasDbXref UMLS:C1334867 ; oboInOwl:hasExactSynonym "NCOA2", "glucocorticoid receptor-interacting protein 1", "ncoa2/lactb2 fusion gene", @@ -148254,16 +152465,18 @@ OMIM:601993 a owl:Class ; "transcriptional intermediary factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10499 ; - skos:exactMatch HGNC_symbol:NCOA2 ; + skos:exactMatch UMLS:C1334867, + HGNC:7669, + HGNC_symbol:NCOA2 ; biolink:category biolink:Gene . OMIM:601994 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:9195163 ; - oboInOwl:hasDbXref UMLS:C1865980 ; oboInOwl:hasExactSynonym "transfer RNA arginine", "trr" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1865980 ; biolink:category biolink:Gene . OMIM:601995 a owl:Class ; @@ -148277,13 +152490,14 @@ OMIM:601995 a owl:Class ; PMID:9403076 ; RO:0002525 CHR:9606chr1q25.1 ; RO:0003303 OMIM:619653 ; - oboInOwl:hasDbXref UMLS:C1420832 ; oboInOwl:hasExactSynonym "TNR", "restrictin", "tenascin r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7143 ; - skos:exactMatch HGNC_symbol:TNR ; + skos:exactMatch UMLS:C1420832, + HGNC:11953, + HGNC_symbol:TNR ; biolink:category biolink:Gene . OMIM:601996 a owl:Class ; @@ -148309,12 +152523,13 @@ OMIM:601997 a owl:Class ; PMID:9727491, PMID:9727492, PMID:9790773 ; - oboInOwl:hasDbXref UMLS:C1332410 ; oboInOwl:hasExactSynonym "BID", "bh3-interacting domain death agonist" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:637 ; - skos:exactMatch HGNC_symbol:BID ; + skos:exactMatch UMLS:C1332410, + HGNC:1050, + HGNC_symbol:BID ; biolink:category biolink:Gene . OMIM:601998 a owl:Class ; @@ -148324,14 +152539,15 @@ OMIM:601998 a owl:Class ; PMID:9271417, PMID:9286700, PMID:9344655 ; - oboInOwl:hasDbXref UMLS:C1414463 ; oboInOwl:hasExactSynonym "ESRRA", "estrogen receptor-like 1", "estrogen-related receptor 1", "estrogen-related receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2101 ; - skos:exactMatch HGNC_symbol:ESRRA ; + skos:exactMatch UMLS:C1414463, + HGNC:3471, + HGNC_symbol:ESRRA ; biolink:category biolink:Gene . OMIM:601999 a owl:Class ; @@ -148344,13 +152560,14 @@ OMIM:601999 a owl:Class ; PMID:8954926, PMID:9212161, PMID:9434953 ; - oboInOwl:hasDbXref UMLS:C1334337 ; oboInOwl:hasExactSynonym "LHX1", "lim homeobox gene 1", "lim1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3975 ; - skos:exactMatch HGNC_symbol:LHX1 ; + skos:exactMatch UMLS:C1334337, + HGNC:6593, + HGNC_symbol:LHX1 ; biolink:category biolink:Gene . OMIM:602000 a owl:Class ; @@ -148359,8 +152576,6 @@ OMIM:602000 a owl:Class ; PMID:8921381 ; RO:0002525 CHR:9606chr2q14.1 ; RO:0003303 OMIM:618939 ; - oboInOwl:hasDbXref UMLS:C1426947, - UMLS:C5394546 ; oboInOwl:hasExactSynonym "POLR1B", "polymerase i, rna, subunit B", "rpa135", @@ -148368,7 +152583,10 @@ OMIM:602000 a owl:Class ; "rpo1-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84172 ; - skos:exactMatch HGNC_symbol:POLR1B ; + skos:exactMatch UMLS:C1426947, + UMLS:C5394546, + HGNC:20454, + HGNC_symbol:POLR1B ; biolink:category biolink:Gene . OMIM:602001 a owl:Class ; @@ -148378,12 +152596,13 @@ OMIM:602001 a owl:Class ; PMID:8824284, PMID:9169127, PMID:9417917 ; - oboInOwl:hasDbXref UMLS:C1417818 ; oboInOwl:hasExactSynonym "NPY5R", "neuropeptide y receptor y5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4889 ; - skos:exactMatch HGNC_symbol:NPY5R ; + skos:exactMatch UMLS:C1417818, + HGNC:7958, + HGNC_symbol:NPY5R ; biolink:category biolink:Gene . OMIM:602002 a owl:Class ; @@ -148394,26 +152613,28 @@ OMIM:602002 a owl:Class ; PMID:21107430, PMID:8940160, PMID:9730620 ; - oboInOwl:hasDbXref UMLS:C1421874 ; oboInOwl:hasExactSynonym "ZYX", "zyxin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7791 ; - skos:exactMatch HGNC_symbol:ZYX ; + skos:exactMatch UMLS:C1421874, + HGNC:13200, + HGNC_symbol:ZYX ; biolink:category biolink:Gene . OMIM:602003 a owl:Class ; rdfs:label "LRMP" ; IAO:0000142 PMID:8021504, PMID:8798562 ; - oboInOwl:hasDbXref UMLS:C1416910 ; oboInOwl:hasExactSynonym "LRMP", "jaw1", "lymphoid protein of endoplasmic reticulum", "lymphoid-restricted membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4033 ; - skos:exactMatch HGNC_symbol:IRAG2 ; + skos:exactMatch UMLS:C1416910, + HGNC:6690, + HGNC_symbol:IRAG2 ; biolink:category biolink:Gene . OMIM:602004 a owl:Class ; @@ -148424,14 +152645,15 @@ OMIM:602004 a owl:Class ; PMID:9284935, PMID:9333026, PMID:9749526 ; - oboInOwl:hasDbXref UMLS:C1335274 ; oboInOwl:hasExactSynonym "PTK6", "breast tumor kinase", "protein-tyrosine kinase 6", "protein-tyrosine kinase brk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5753 ; - skos:exactMatch HGNC_symbol:PTK6 ; + skos:exactMatch UMLS:C1335274, + HGNC:9617, + HGNC_symbol:PTK6 ; biolink:category biolink:Gene . OMIM:602005 a owl:Class ; @@ -148447,7 +152669,6 @@ OMIM:602005 a owl:Class ; PMID:19822782, PMID:21220680, PMID:8940146 ; - oboInOwl:hasDbXref UMLS:C1420312 ; oboInOwl:hasExactSynonym "SORL1", "lr11", "sorla", @@ -148455,7 +152676,9 @@ OMIM:602005 a owl:Class ; "sortilin-related receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6653 ; - skos:exactMatch HGNC_symbol:SORL1 ; + skos:exactMatch UMLS:C1420312, + HGNC:11185, + HGNC_symbol:SORL1 ; biolink:category biolink:Gene . OMIM:602006 a owl:Class ; @@ -148467,13 +152690,14 @@ OMIM:602006 a owl:Class ; PMID:16849504, PMID:24020373, PMID:8280084 ; - oboInOwl:hasDbXref UMLS:C1442514 ; oboInOwl:hasExactSynonym "MAPKAPK2", "mapkap kinase 2", "mitogen-activated protein kinase-activated protein kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9261 ; - skos:exactMatch HGNC_symbol:MAPKAPK2 ; + skos:exactMatch UMLS:C1442514, + HGNC:6887, + HGNC_symbol:MAPKAPK2 ; biolink:category biolink:Gene . OMIM:602007 a owl:Class ; @@ -148486,20 +152710,20 @@ OMIM:602007 a owl:Class ; PMID:28121514, PMID:8361759, PMID:8798523 ; - oboInOwl:hasDbXref UMLS:C0812253 ; oboInOwl:hasExactSynonym "CRKL", "crk-like protooncogene, adaptor protein", "oncogene crkl", "v-crk avian sarcoma virus ct10 oncogene homolog-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1399 ; - skos:exactMatch HGNC_symbol:CRKL ; + skos:exactMatch UMLS:C0812253, + HGNC:2363, + HGNC_symbol:CRKL ; biolink:category biolink:Gene . OMIM:602008 a owl:Class ; rdfs:label "IPO5" ; IAO:0000142 PMID:9114010 ; - oboInOwl:hasDbXref UMLS:C1538782 ; oboInOwl:hasExactSynonym "IPO5", "importin 5", "importin beta-3", @@ -148507,7 +152731,9 @@ OMIM:602008 a owl:Class ; "ran-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3843 ; - skos:exactMatch HGNC_symbol:IPO5 ; + skos:exactMatch UMLS:C1538782, + HGNC:6402, + HGNC_symbol:IPO5 ; biolink:category biolink:Gene . OMIM:602009 a owl:Class ; @@ -148518,21 +152744,21 @@ OMIM:602009 a owl:Class ; PMID:9177785 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:619062 ; - oboInOwl:hasDbXref UMLS:C1413648, - UMLS:C5436720 ; oboInOwl:hasExactSynonym "COX6A2", "cytochrome c oxidase, subunit 6a2", "cytochrome c oxidase, subunit via, polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1339 ; - skos:exactMatch HGNC_symbol:COX6A2 ; + skos:exactMatch UMLS:C1413648, + UMLS:C5436720, + HGNC:2279, + HGNC_symbol:COX6A2 ; biolink:category biolink:Gene . OMIM:602010 a owl:Class ; rdfs:label "SRSF11" ; IAO:0000142 PMID:17361132, PMID:1896467 ; - oboInOwl:hasDbXref UMLS:C1419991 ; oboInOwl:hasExactSynonym "SRSF11", "serine/arginine-rich splicing factor 11", "splicing factor, arginine/serine-rich, 11", @@ -148540,7 +152766,9 @@ OMIM:602010 a owl:Class ; "splicing factor, serine/arginine-rich, 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9295 ; - skos:exactMatch HGNC_symbol:SRSF11 ; + skos:exactMatch UMLS:C1419991, + HGNC:10782, + HGNC_symbol:SRSF11 ; biolink:category biolink:Gene . OMIM:602012 a owl:Class ; @@ -148548,26 +152776,28 @@ OMIM:602012 a owl:Class ; IAO:0000142 PMID:17727821, PMID:17960245, PMID:9271669 ; - oboInOwl:hasDbXref UMLS:C1414413 ; oboInOwl:hasExactSynonym "ENTPD2", "cd39-like 1", "ectonucleoside triphosphate diphosphohydrolase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:954 ; - skos:exactMatch HGNC_symbol:ENTPD2 ; + skos:exactMatch UMLS:C1414413, + HGNC:3364, + HGNC_symbol:ENTPD2 ; biolink:category biolink:Gene . OMIM:602013 a owl:Class ; rdfs:label "POLR2G" ; IAO:0000142 PMID:9256063, PMID:9528765 ; - oboInOwl:hasDbXref UMLS:C1418745 ; oboInOwl:hasExactSynonym "POLR2G", "polymerase ii, rna, subunit g", "rpb7, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5436 ; - skos:exactMatch HGNC_symbol:POLR2G ; + skos:exactMatch UMLS:C1418745, + HGNC:9194, + HGNC_symbol:POLR2G ; biolink:category biolink:Gene . OMIM:602015 a owl:Class ; @@ -148578,7 +152808,6 @@ OMIM:602015 a owl:Class ; PMID:8949892, PMID:9045620, PMID:9092585 ; - oboInOwl:hasDbXref UMLS:C1417936 ; oboInOwl:hasExactSynonym "ODF2", "cenexin 1", "cenexin 1 variant 1", @@ -148586,7 +152815,9 @@ OMIM:602015 a owl:Class ; "outer dense fiber of sperm tails, 84-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4957 ; - skos:exactMatch HGNC_symbol:ODF2 ; + skos:exactMatch UMLS:C1417936, + HGNC:8114, + HGNC_symbol:ODF2 ; biolink:category biolink:Gene . OMIM:602016 a owl:Class ; @@ -148608,13 +152839,14 @@ OMIM:602016 a owl:Class ; PMID:7565748, PMID:9302292, PMID:9333949 ; - oboInOwl:hasDbXref UMLS:C1416659 ; oboInOwl:hasExactSynonym "KLF2", "kruppel-like factor 2", "lung kruppel-like zinc finger transcription factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10365 ; - skos:exactMatch HGNC_symbol:KLF2 ; + skos:exactMatch UMLS:C1416659, + HGNC:6347, + HGNC_symbol:KLF2 ; biolink:category biolink:Gene . OMIM:602017 a owl:Class ; @@ -148622,14 +152854,15 @@ OMIM:602017 a owl:Class ; IAO:0000142 PMID:7558012, PMID:7966316, PMID:9286694 ; - oboInOwl:hasDbXref UMLS:C1419010 ; oboInOwl:hasExactSynonym "PSMB1", "proteasomal subunit c5", "proteasome subunit beta-6", "proteasome subunit, beta-type, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5689 ; - skos:exactMatch HGNC_symbol:PSMB1 ; + skos:exactMatch UMLS:C1419010, + HGNC:9537, + HGNC_symbol:PSMB1 ; biolink:category biolink:Gene . OMIM:602018 a owl:Class ; @@ -148637,24 +152870,26 @@ OMIM:602018 a owl:Class ; IAO:0000142 PMID:8945474, PMID:9286710, PMID:9700200 ; - oboInOwl:hasDbXref UMLS:C1334906 ; oboInOwl:hasExactSynonym "NRTN", "neurturin", "ntn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4902 ; - skos:exactMatch HGNC_symbol:NRTN ; + skos:exactMatch UMLS:C1334906, + HGNC:8007, + HGNC_symbol:NRTN ; biolink:category biolink:Gene . OMIM:602019 a owl:Class ; rdfs:label "SQLE" ; IAO:0000142 PMID:9286711 ; - oboInOwl:hasDbXref UMLS:C1420392 ; oboInOwl:hasExactSynonym "SQLE", "squalene epoxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6713 ; - skos:exactMatch HGNC_symbol:SQLE ; + skos:exactMatch UMLS:C1420392, + HGNC:11279, + HGNC_symbol:SQLE ; biolink:category biolink:Gene . OMIM:602020 a owl:Class ; @@ -148667,13 +152902,14 @@ OMIM:602020 a owl:Class ; PMID:9286713, PMID:9679061, PMID:9763667 ; - oboInOwl:hasDbXref UMLS:C0812300 ; oboInOwl:hasExactSynonym "MAFG", "maf bzip transcription factor g", "v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4097 ; - skos:exactMatch HGNC_symbol:MAFG ; + skos:exactMatch UMLS:C0812300, + HGNC:6781, + HGNC_symbol:MAFG ; biolink:category biolink:Gene . OMIM:602021 a owl:Class ; @@ -148686,15 +152922,16 @@ OMIM:602021 a owl:Class ; PMID:9286714 ; RO:0002525 CHR:9606chr12q21.2-q21.31 ; RO:0003303 OMIM:618820 ; - oboInOwl:hasDbXref UMLS:C1417581, - UMLS:C5394158 ; oboInOwl:hasExactSynonym "PPP1R12A", "myosin phosphatase target subunit 1", "myosin phosphatase, myosin-binding subunit", "protein phosphatase 1, regulatory subunit 12a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4659 ; - skos:exactMatch HGNC_symbol:PPP1R12A ; + skos:exactMatch UMLS:C1417581, + UMLS:C5394158, + HGNC:7618, + HGNC_symbol:PPP1R12A ; biolink:category biolink:Gene . OMIM:602023 a owl:Class ; @@ -148712,13 +152949,14 @@ OMIM:602023 a owl:Class ; PMID:9326936 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:613090 ; - oboInOwl:hasDbXref UMLS:C1413458 ; oboInOwl:hasExactSynonym "CLCNKB", "chloride channel, kidney, B", "clckb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1188 ; - skos:exactMatch HGNC_symbol:CLCNKB ; + skos:exactMatch UMLS:C1413458, + HGNC:2027, + HGNC_symbol:CLCNKB ; biolink:category biolink:Gene . OMIM:602024 a owl:Class ; @@ -148733,13 +152971,14 @@ OMIM:602024 a owl:Class ; PMID:9916798 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:613090 ; - oboInOwl:hasDbXref UMLS:C1413457 ; oboInOwl:hasExactSynonym "CLCNKA", "chloride channel, kidney, a", "clck1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1187 ; - skos:exactMatch HGNC_symbol:CLCNKA ; + skos:exactMatch UMLS:C1413457, + HGNC:2026, + HGNC_symbol:CLCNKA ; biolink:category biolink:Gene . OMIM:602027 a owl:Class ; @@ -148771,13 +153010,14 @@ OMIM:602027 a owl:Class ; PMID:9326950, PMID:9326951, PMID:9476899 ; - oboInOwl:hasDbXref UMLS:C1336605 ; oboInOwl:hasExactSynonym "TERF2", "telomeric repeat-binding factor 2", "trf2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7014 ; - skos:exactMatch HGNC_symbol:TERF2 ; + skos:exactMatch UMLS:C1336605, + HGNC:11729, + HGNC_symbol:TERF2 ; biolink:category biolink:Gene . OMIM:602028 a owl:Class ; @@ -148795,24 +153035,26 @@ OMIM:602030 a owl:Class ; PMID:21852454, PMID:8182079, PMID:8207002 ; - oboInOwl:hasDbXref UMLS:C1414868 ; oboInOwl:hasExactSynonym "FUT7", "fucosyltransferase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2529 ; - skos:exactMatch HGNC_symbol:FUT7 ; + skos:exactMatch UMLS:C1414868, + HGNC:4018, + HGNC_symbol:FUT7 ; biolink:category biolink:Gene . OMIM:602031 a owl:Class ; rdfs:label "PGGT1B" ; IAO:0000142 PMID:20106865, PMID:8106351 ; - oboInOwl:hasDbXref UMLS:C1418507 ; oboInOwl:hasExactSynonym "PGGT1B", "protein geranylgeranyltransferase iia i, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5229 ; - skos:exactMatch HGNC_symbol:PGGT1B ; + skos:exactMatch UMLS:C1418507, + HGNC:8895, + HGNC_symbol:PGGT1B ; biolink:category biolink:Gene . OMIM:602033 a owl:Class ; @@ -148822,14 +153064,15 @@ OMIM:602033 a owl:Class ; PMID:9226380 ; RO:0002525 CHR:9606chr14q32.2 ; RO:0003303 OMIM:600348 ; - oboInOwl:hasDbXref UMLS:C1414385 ; oboInOwl:hasExactSynonym "EML1", "echinoderm microtubule-associated protein-like", "echinoderm microtubule-associated protein-like 1", "emap" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2009 ; - skos:exactMatch HGNC_symbol:EML1 ; + skos:exactMatch UMLS:C1414385, + HGNC:3330, + HGNC_symbol:EML1 ; biolink:category biolink:Gene . OMIM:602034 a owl:Class ; @@ -148844,14 +153087,15 @@ OMIM:602034 a owl:Class ; PMID:9178757, PMID:9383293, PMID:9717834 ; - oboInOwl:hasDbXref UMLS:C1413710 ; oboInOwl:hasExactSynonym "CRHR2", "corticotropin-releasing factor receptor 2", "corticotropin-releasing hormone receptor 2", "crf2 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1395 ; - skos:exactMatch HGNC_symbol:CRHR2 ; + skos:exactMatch UMLS:C1413710, + HGNC:2358, + HGNC_symbol:CRHR2 ; biolink:category biolink:Gene . OMIM:602035 a owl:Class ; @@ -148863,14 +153107,15 @@ OMIM:602035 a owl:Class ; PMID:18715871, PMID:20154705, PMID:9177794 ; - oboInOwl:hasDbXref UMLS:C1418850 ; oboInOwl:hasExactSynonym "PPP4C", "protein phosphatase 10", "protein phosphatase 4, catalytic subunit", "serine/threonine protein phosphatase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5531 ; - skos:exactMatch HGNC_symbol:PPP4C ; + skos:exactMatch UMLS:C1418850, + HGNC:9319, + HGNC_symbol:PPP4C ; biolink:category biolink:Gene . OMIM:602036 a owl:Class ; @@ -148888,14 +153133,15 @@ OMIM:602037 a owl:Class ; PMID:9226377 ; RO:0002525 CHR:9606chr4p14 ; RO:0003303 OMIM:618307 ; - oboInOwl:hasDbXref UMLS:C1332112 ; oboInOwl:hasExactSynonym "RHOH", "arhh", "ras homolog gene family, member h", "translocation three four" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399 ; - skos:exactMatch HGNC_symbol:RHOH ; + skos:exactMatch UMLS:C1332112, + HGNC:686, + HGNC_symbol:RHOH ; biolink:category biolink:Gene . OMIM:602038 a owl:Class ; @@ -148903,14 +153149,15 @@ OMIM:602038 a owl:Class ; IAO:0000142 PMID:19228121, PMID:7561881, PMID:9192849 ; - oboInOwl:hasDbXref UMLS:C1414189 ; oboInOwl:hasExactSynonym "DUSP8", "dual-specificity phosphatase 8", "h1 phosphatase, vaccinia virus, homolog of", "m3/6, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1850 ; - skos:exactMatch HGNC_symbol:DUSP8 ; + skos:exactMatch UMLS:C1414189, + HGNC:3074, + HGNC_symbol:DUSP8 ; biolink:category biolink:Gene . OMIM:602039 a owl:Class ; @@ -148921,7 +153168,6 @@ OMIM:602039 a owl:Class ; PMID:9054404, PMID:9150439, PMID:9925932 ; - oboInOwl:hasDbXref UMLS:C1414338 ; oboInOwl:hasExactSynonym "EIF3A", "centrosomin b, mouse, homolog of", "cytoplasmic protein p167", @@ -148932,19 +153178,22 @@ OMIM:602039 a owl:Class ; "eukaryotic translation initiation factor 3, theta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8661 ; - skos:exactMatch HGNC_symbol:EIF3A ; + skos:exactMatch UMLS:C1414338, + HGNC:3271, + HGNC_symbol:EIF3A ; biolink:category biolink:Gene . OMIM:602040 a owl:Class ; rdfs:label "NCAM2" ; IAO:0000142 PMID:16840779, PMID:9226371 ; - oboInOwl:hasDbXref UMLS:C1417605 ; oboInOwl:hasExactSynonym "NCAM2", "cell adhesion molecule, neural, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4685 ; - skos:exactMatch HGNC_symbol:NCAM2 ; + skos:exactMatch UMLS:C1417605, + HGNC:7657, + HGNC_symbol:NCAM2 ; biolink:category biolink:Gene . OMIM:602041 a owl:Class ; @@ -148955,7 +153204,6 @@ OMIM:602041 a owl:Class ; PMID:27339988, PMID:8943214, PMID:9226374 ; - oboInOwl:hasDbXref UMLS:C1334882 ; oboInOwl:hasExactSynonym "NKX3-1", "bapx2", "nk homeobox, family 3, member a", @@ -148963,19 +153211,22 @@ OMIM:602041 a owl:Class ; "nkx3.1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4824 ; - skos:exactMatch HGNC_symbol:NKX3-1 ; + skos:exactMatch UMLS:C1334882, + HGNC:7838, + HGNC_symbol:NKX3-1 ; biolink:category biolink:Gene . OMIM:602042 a owl:Class ; rdfs:label "GPR18" ; IAO:0000142 PMID:26195725, PMID:9205118 ; - oboInOwl:hasDbXref UMLS:C1415211 ; oboInOwl:hasExactSynonym "GPR18", "g protein-coupled receptor 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2841 ; - skos:exactMatch HGNC_symbol:GPR18 ; + skos:exactMatch UMLS:C1415211, + HGNC:4472, + HGNC_symbol:GPR18 ; biolink:category biolink:Gene . OMIM:602043 a owl:Class ; @@ -148983,7 +153234,6 @@ OMIM:602043 a owl:Class ; IAO:0000142 PMID:21712392, PMID:30675063, PMID:9205127 ; - oboInOwl:hasDbXref UMLS:C1415224 ; oboInOwl:hasExactSynonym "12-(s)-hete receptor", "12-(s)-hydroxyeicosatetraenoic acid receptor", "12-heter", @@ -148991,7 +153241,9 @@ OMIM:602043 a owl:Class ; "g protein-coupled receptor 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2853 ; - skos:exactMatch HGNC_symbol:GPR31 ; + skos:exactMatch UMLS:C1415224, + HGNC:4486, + HGNC_symbol:GPR31 ; biolink:category biolink:Gene . OMIM:602044 a owl:Class ; @@ -149020,12 +153272,13 @@ OMIM:602044 a owl:Class ; PMID:9769326 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:601665 ; - oboInOwl:hasDbXref UMLS:C1421315 ; oboInOwl:hasExactSynonym "UCP3", "uncoupling protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7352 ; - skos:exactMatch HGNC_symbol:UCP3 ; + skos:exactMatch UMLS:C1421315, + HGNC:12519, + HGNC_symbol:UCP3 ; biolink:category biolink:Gene . OMIM:602045 a owl:Class ; @@ -149036,14 +153289,15 @@ OMIM:602045 a owl:Class ; PMID:7681583, PMID:9199346, PMID:9205114 ; - oboInOwl:hasDbXref UMLS:C1419389 ; oboInOwl:hasExactSynonym "RING1", "ring finger protein 1", "ring1a", "rnf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6015 ; - skos:exactMatch HGNC_symbol:RING1 ; + skos:exactMatch UMLS:C1419389, + HGNC:10018, + HGNC_symbol:RING1 ; biolink:category biolink:Gene . OMIM:602046 a owl:Class ; @@ -149056,7 +153310,6 @@ OMIM:602046 a owl:Class ; PMID:8974399, PMID:9205111, PMID:9457688 ; - oboInOwl:hasDbXref UMLS:C1538607 ; oboInOwl:hasExactSynonym "PDIA3", "er60", "erp57", @@ -149064,7 +153317,9 @@ OMIM:602046 a owl:Class ; "protein disulfide isomerase, family a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2923 ; - skos:exactMatch HGNC_symbol:PDIA3 ; + skos:exactMatch UMLS:C1538607, + HGNC:4606, + HGNC_symbol:PDIA3 ; biolink:category biolink:Gene . OMIM:602047 a owl:Class ; @@ -149074,7 +153329,6 @@ OMIM:602047 a owl:Class ; PMID:17220874, PMID:8884271, PMID:8921398 ; - oboInOwl:hasDbXref UMLS:C1418419 ; oboInOwl:hasExactSynonym "PDE3B", "camp phosphodiesterase, adipocyte, cgmp-inhibited", "hcgip1, rat, homolog of", @@ -149082,7 +153336,9 @@ OMIM:602047 a owl:Class ; "phosphodiesterase 3b, cgmp-inhibited" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5140 ; - skos:exactMatch HGNC_symbol:PDE3B ; + skos:exactMatch UMLS:C1418419, + HGNC:8779, + HGNC_symbol:PDE3B ; biolink:category biolink:Gene . OMIM:602048 a owl:Class ; @@ -149136,14 +153392,15 @@ OMIM:602048 a owl:Class ; PMID:9572733 ; RO:0002525 CHR:9606chr7p22.1 ; RO:0003303 OMIM:617751 ; - oboInOwl:hasDbXref UMLS:C1419227 ; oboInOwl:hasExactSynonym "RAC1", "ced10, c. elegans, homolog of", "ras-related c3 botulinum toxin substrate 1", "rho family, small gtp-binding protein rac1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5879 ; - skos:exactMatch HGNC_symbol:RAC1 ; + skos:exactMatch UMLS:C1419227, + HGNC:9801, + HGNC_symbol:RAC1 ; biolink:category biolink:Gene . OMIM:602049 a owl:Class ; @@ -149169,16 +153426,17 @@ OMIM:602049 a owl:Class ; PMID:9299243 ; RO:0002525 CHR:9606chr22q13.1 ; RO:0003303 OMIM:618986 ; - oboInOwl:hasDbXref UMLS:C1419228, - UMLS:C1842398, - UMLS:C5436549, - UMLS:C5436550 ; oboInOwl:hasExactSynonym "RAC2", "ras-related c3 botulinum toxin substrate 2", "rho family, small gtp-binding protein rac2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5880 ; - skos:exactMatch HGNC_symbol:RAC2 ; + skos:exactMatch UMLS:C1419228, + UMLS:C1842398, + UMLS:C5436549, + UMLS:C5436550, + HGNC:9802, + HGNC_symbol:RAC2 ; biolink:category biolink:Gene . OMIM:602050 a owl:Class ; @@ -149190,35 +153448,38 @@ OMIM:602050 a owl:Class ; PMID:9299243 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:618577 ; - oboInOwl:hasDbXref UMLS:C1419229 ; oboInOwl:hasExactSynonym "RAC3", "ras-related c3 botulinum toxin substrate 3", "rho family, small gtp-binding protein rac3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5881 ; - skos:exactMatch HGNC_symbol:RAC3 ; + skos:exactMatch UMLS:C1419229, + HGNC:9803, + HGNC_symbol:RAC3 ; biolink:category biolink:Gene . OMIM:602051 a owl:Class ; rdfs:label "PIN1L" ; IAO:0000142 PMID:9299231 ; - oboInOwl:hasDbXref UMLS:C1418583 ; oboInOwl:hasExactSynonym "PIN1L", "peptidyl-prolyl cis/trans isomerase, nima-interacting, 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5301 ; - skos:exactMatch HGNC_symbol:PIN1P1 ; + skos:exactMatch UMLS:C1418583, + HGNC:8989, + HGNC_symbol:PIN1P1 ; biolink:category biolink:Gene . OMIM:602052 a owl:Class ; rdfs:label "GAK" ; IAO:0000142 PMID:9299234 ; - oboInOwl:hasDbXref UMLS:C1414944 ; oboInOwl:hasExactSynonym "GAK", "cyclin g-associated kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2580 ; - skos:exactMatch HGNC_symbol:GAK ; + skos:exactMatch UMLS:C1414944, + HGNC:4113, + HGNC_symbol:GAK ; biolink:category biolink:Gene . OMIM:602053 a owl:Class ; @@ -149232,7 +153493,6 @@ OMIM:602053 a owl:Class ; PMID:9689109 ; RO:0002525 CHR:9606chr10p15.2 ; RO:0003303 OMIM:176807 ; - oboInOwl:hasDbXref UMLS:C1537486 ; oboInOwl:hasExactSynonym "B cell-derived 1", "KLF6", "core promoter element-binding protein", @@ -149241,7 +153501,9 @@ OMIM:602053 a owl:Class ; "transcription factor zf9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1316 ; - skos:exactMatch HGNC_symbol:KLF6 ; + skos:exactMatch UMLS:C1537486, + HGNC:2235, + HGNC_symbol:KLF6 ; biolink:category biolink:Gene . OMIM:602054 a owl:Class ; @@ -149272,17 +153534,18 @@ OMIM:602054 a owl:Class ; PMID:9268629 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:192430 ; - oboInOwl:hasDbXref UMLS:C0012236, - UMLS:C0039685, - UMLS:C0220704, - UMLS:C1420603, - UMLS:C4016770 ; oboInOwl:hasExactSynonym "TBX1", "t-box 1", "t-box transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6899 ; - skos:exactMatch HGNC_symbol:TBX1 ; + skos:exactMatch UMLS:C0012236, + UMLS:C0039685, + UMLS:C0220704, + UMLS:C1420603, + UMLS:C4016770, + HGNC:11592, + HGNC_symbol:TBX1 ; biolink:category biolink:Gene . OMIM:602056 a owl:Class ; @@ -149299,12 +153562,13 @@ OMIM:602056 a owl:Class ; PMID:9541493, PMID:9585433, PMID:9843998 ; - oboInOwl:hasDbXref UMLS:C1333213 ; oboInOwl:hasExactSynonym "DEFB1", "defensin, beta, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1672 ; - skos:exactMatch HGNC_symbol:DEFB1 ; + skos:exactMatch UMLS:C1333213, + HGNC:2766, + HGNC_symbol:DEFB1 ; biolink:category biolink:Gene . OMIM:602057 a owl:Class ; @@ -149316,25 +153580,27 @@ OMIM:602058 a owl:Class ; IAO:0000142 PMID:2690952, PMID:7592909, PMID:9268635 ; - oboInOwl:hasDbXref UMLS:C1418545 ; oboInOwl:hasExactSynonym "PI10", "bomapin", "protease inhibitor 10", "serpin peptidase inhibitor, clade B (ovalbumin), member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5273 ; - skos:exactMatch HGNC_symbol:SERPINB10 ; + skos:exactMatch UMLS:C1418545, + HGNC:8942, + HGNC_symbol:SERPINB10 ; biolink:category biolink:Gene . OMIM:602059 a owl:Class ; rdfs:label "ISLR" ; IAO:0000142 PMID:9325048 ; - oboInOwl:hasDbXref UMLS:C1416481 ; oboInOwl:hasExactSynonym "ISLR", "immunoglobulin superfamily containing leucine-rich repeat" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3671 ; - skos:exactMatch HGNC_symbol:ISLR ; + skos:exactMatch UMLS:C1416481, + HGNC:6133, + HGNC_symbol:ISLR ; biolink:category biolink:Gene . OMIM:602060 a owl:Class ; @@ -149347,7 +153613,6 @@ OMIM:602060 a owl:Class ; PMID:20601956, PMID:32142651, PMID:9325052 ; - oboInOwl:hasDbXref UMLS:C1336641 ; oboInOwl:hasExactSynonym "TMPRSS2", "tmprss2/erg fusion gene", "tmprss2/etv1 fusion gene", @@ -149355,7 +153620,9 @@ OMIM:602060 a owl:Class ; "transmembrane serine protease 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7113 ; - skos:exactMatch HGNC_symbol:TMPRSS2 ; + skos:exactMatch UMLS:C1336641, + HGNC:11876, + HGNC_symbol:TMPRSS2 ; biolink:category biolink:Gene . OMIM:602061 a owl:Class ; @@ -149368,12 +153635,13 @@ OMIM:602061 a owl:Class ; PMID:1954899, PMID:7706296, PMID:9337852 ; - oboInOwl:hasDbXref UMLS:C1366644 ; oboInOwl:hasExactSynonym "EREG", "epiregulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2069 ; - skos:exactMatch HGNC_symbol:EREG ; + skos:exactMatch UMLS:C1366644, + HGNC:3443, + HGNC_symbol:EREG ; biolink:category biolink:Gene . OMIM:602062 a owl:Class ; @@ -149383,13 +153651,14 @@ OMIM:602062 a owl:Class ; PMID:8780658, PMID:9261151, PMID:9465296 ; - oboInOwl:hasDbXref UMLS:C1417728 ; oboInOwl:hasExactSynonym "NINJ1", "nerve injury-induced protein 1", "ninjurin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4814 ; - skos:exactMatch HGNC_symbol:NINJ1 ; + skos:exactMatch UMLS:C1417728, + HGNC:7824, + HGNC_symbol:NINJ1 ; biolink:category biolink:Gene . OMIM:602063 a owl:Class ; @@ -149408,13 +153677,14 @@ OMIM:602063 a owl:Class ; PMID:9524206 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:606003 ; - oboInOwl:hasDbXref UMLS:C1291329, - UMLS:C1420580 ; oboInOwl:hasExactSynonym "TALDO1", "transaldolase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6888 ; - skos:exactMatch HGNC_symbol:TALDO1 ; + skos:exactMatch UMLS:C1291329, + UMLS:C1420580, + HGNC:11559, + HGNC_symbol:TALDO1 ; biolink:category biolink:Gene . OMIM:602064 a owl:Class ; @@ -149428,7 +153698,6 @@ OMIM:602064 a owl:Class ; PMID:9339367 ; RO:0002525 CHR:9606chr8q21.13 ; RO:0003303 OMIM:617323 ; - oboInOwl:hasDbXref UMLS:C1416425 ; oboInOwl:hasExactSynonym "IMPA1", "imp", "impa", @@ -149436,7 +153705,9 @@ OMIM:602064 a owl:Class ; "myoinositol monophosphatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3612 ; - skos:exactMatch HGNC_symbol:IMPA1 ; + skos:exactMatch UMLS:C1416425, + HGNC:6050, + HGNC_symbol:IMPA1 ; biolink:category biolink:Gene . OMIM:602065 a owl:Class ; @@ -149444,14 +153715,15 @@ OMIM:602065 a owl:Class ; IAO:0000142 PMID:10836796, PMID:8943218, PMID:9272162 ; - oboInOwl:hasDbXref UMLS:C1412217 ; oboInOwl:hasExactSynonym "ADARB2", "adenosine deaminase, rna-specific, 3", "adenosine deaminase, rna-specific, b2", "rna-editing enzyme 2, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105 ; - skos:exactMatch HGNC_symbol:ADARB2 ; + skos:exactMatch UMLS:C1412217, + HGNC:227, + HGNC_symbol:ADARB2 ; biolink:category biolink:Gene . OMIM:602066 a owl:Class ; @@ -149463,12 +153735,12 @@ OMIM:602066 a owl:Class ; PMID:22832103, PMID:9382100, PMID:9860304 ; - oboInOwl:hasDbXref UMLS:C1865926 ; oboInOwl:hasExactSynonym "ICCA", "convulsions, familial infantile, with paroxysmal choreoathetosis", "icca syndrome", "infantile convulsions and paroxysmal choreoathetosis, familial", "paroxysmal kinesigenic dyskinesia with infantile convulsions" ; + skos:exactMatch UMLS:C1865926 ; biolink:category biolink:Disease . OMIM:602067 a owl:Class ; @@ -149480,8 +153752,8 @@ OMIM:602068 a owl:Class ; rdfs:label "leishmaniasis, tegumentary, susceptibility to" ; IAO:0000142 PMID:21311023, PMID:9382111 ; - oboInOwl:hasDbXref UMLS:C2748501 ; - oboInOwl:hasExactSynonym "leishmaniasis, tegumentary, susceptibility to" . + oboInOwl:hasExactSynonym "leishmaniasis, tegumentary, susceptibility to" ; + skos:exactMatch UMLS:C2748501 . OMIM:602069 a owl:Class ; rdfs:label "NRP1" ; @@ -149514,7 +153786,6 @@ OMIM:602069 a owl:Class ; PMID:9288754, PMID:9529250, PMID:9712843 ; - oboInOwl:hasDbXref UMLS:C1334905 ; oboInOwl:hasExactSynonym "NRP1", "blood dendritic cell antigen 4", "neuropilin 1", @@ -149523,7 +153794,9 @@ OMIM:602069 a owl:Class ; "vascular endothelial growth factor-165 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8829 ; - skos:exactMatch HGNC_symbol:NRP1 ; + skos:exactMatch UMLS:C1334905, + HGNC:8004, + HGNC_symbol:NRP1 ; biolink:category biolink:Gene . OMIM:602070 a owl:Class ; @@ -149540,21 +153813,22 @@ OMIM:602070 a owl:Class ; PMID:30057110, PMID:8895455, PMID:9288754 ; - oboInOwl:hasDbXref UMLS:C1417850 ; oboInOwl:hasExactSynonym "NRP2", "neuropilin 2", "npn2", "vascular endothelial growth factor-165 receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8828 ; - skos:exactMatch HGNC_symbol:NRP2 ; + skos:exactMatch UMLS:C1417850, + HGNC:8005, + HGNC_symbol:NRP2 ; biolink:category biolink:Gene . OMIM:602071 a owl:Class ; rdfs:label "broad terminal phalanges, familial" ; IAO:0000142 PMID:9268094 ; - oboInOwl:hasDbXref UMLS:C1865923 ; oboInOwl:hasExactSynonym "broad terminal phalanges, familial" ; + skos:exactMatch UMLS:C1865923 ; biolink:category biolink:Disease . OMIM:602072 a owl:Class ; @@ -149568,14 +153842,15 @@ OMIM:602072 a owl:Class ; PMID:9284905 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:616039 ; - oboInOwl:hasDbXref UMLS:C1413646 ; oboInOwl:hasExactSynonym "COX6A1", "cox6a, liver", "cytochrome c oxidase, subunit 6a1", "cytochrome c oxidase, subunit via, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1337 ; - skos:exactMatch HGNC_symbol:COX6A1 ; + skos:exactMatch UMLS:C1413646, + HGNC:2277, + HGNC_symbol:COX6A1 ; biolink:category biolink:Gene . OMIM:602073 a owl:Class ; @@ -149588,13 +153863,14 @@ OMIM:602074 a owl:Class ; PMID:15179560, PMID:7499268, PMID:9284927 ; - oboInOwl:hasDbXref UMLS:C1413905 ; oboInOwl:hasExactSynonym "DAP3", "death-associated protein 3", "mitochondrial ribosomal protein s29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7818 ; - skos:exactMatch HGNC_symbol:DAP3 ; + skos:exactMatch UMLS:C1413905, + HGNC:2673, + HGNC_symbol:DAP3 ; biolink:category biolink:Gene . OMIM:602075 a owl:Class ; @@ -149613,12 +153889,13 @@ OMIM:602075 a owl:Class ; PMID:9284917 ; RO:0002525 CHR:9606chr3p24.3 ; RO:0003303 OMIM:619229 ; - oboInOwl:hasDbXref UMLS:C1419822 ; oboInOwl:hasExactSynonym "SATB1", "special at-rich sequence-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6304 ; - skos:exactMatch HGNC_symbol:SATB1 ; + skos:exactMatch UMLS:C1419822, + HGNC:10541, + HGNC_symbol:SATB1 ; biolink:category biolink:Gene . OMIM:602076 a owl:Class ; @@ -149661,14 +153938,15 @@ OMIM:602076 a owl:Class ; PMID:8840926, PMID:8890298, PMID:9349813 ; - oboInOwl:hasDbXref UMLS:C1421467 ; oboInOwl:hasExactSynonym "TRPV1", "capsaicin receptor", "transient receptor potential cation channel, subfamily v, member 1", "vanilloid receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7442 ; - skos:exactMatch HGNC_symbol:TRPV1 ; + skos:exactMatch UMLS:C1421467, + HGNC:12716, + HGNC_symbol:TRPV1 ; biolink:category biolink:Gene . OMIM:602077 a owl:Class ; @@ -149686,12 +153964,12 @@ OMIM:602082 a owl:Class ; PMID:8604731, PMID:9054935, PMID:9403072 ; - oboInOwl:hasDbXref UMLS:C1562894 ; oboInOwl:hasExactSynonym "CDTB", "corneal dystrophy of bowman layer, iia 2", "corneal dystrophy, honeycomb-shaped", "corneal dystrophy, thiel-behnke iia", "thiel-behnke corneal dystrophy" ; + skos:exactMatch UMLS:C1562894 ; biolink:category biolink:Disease . OMIM:602084 a owl:Class ; @@ -149714,13 +153992,14 @@ OMIM:602090 a owl:Class ; PMID:9205112 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:617809 ; - oboInOwl:hasDbXref UMLS:C1416929 ; oboInOwl:hasExactSynonym "LTBP3", "latent transforming growth factor-beta-binding protein 3", "ltbp2, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4054 ; - skos:exactMatch HGNC_symbol:LTBP3 ; + skos:exactMatch UMLS:C1416929, + HGNC:6716, + HGNC_symbol:LTBP3 ; biolink:category biolink:Gene . OMIM:602091 a owl:Class ; @@ -149737,13 +154016,14 @@ OMIM:602091 a owl:Class ; PMID:7798248 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:251750 ; - oboInOwl:hasDbXref UMLS:C1334351 ; oboInOwl:hasExactSynonym "LTBP2", "latent transforming growth factor-beta-binding protein 2", "ltbp3, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4053 ; - skos:exactMatch HGNC_symbol:LTBP2 ; + skos:exactMatch UMLS:C1334351, + HGNC:6715, + HGNC_symbol:LTBP2 ; biolink:category biolink:Gene . OMIM:602092 a owl:Class ; @@ -149753,12 +154033,12 @@ OMIM:602092 a owl:Class ; PMID:12136232, PMID:14519688, PMID:9653658 ; - oboInOwl:hasDbXref UMLS:C1865870, - ORPHA:90636 ; oboInOwl:hasExactSynonym "DFNB18A", "deafness, autosomal recessive 18", "deafness, autosomal recessive 18a" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1865870, + ORPHA:90636 ; biolink:category biolink:Disease . OMIM:602094 a owl:Class ; @@ -149775,13 +154055,14 @@ OMIM:602095 a owl:Class ; PMID:3220631, PMID:619449, PMID:9354792 ; - oboInOwl:hasDbXref UMLS:C1420181 ; oboInOwl:hasExactSynonym "SLC30A4", "solute carrier family 30 (zinc transporter), member 4", "zinc transporter 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7782 ; - skos:exactMatch HGNC_symbol:SLC30A4 ; + skos:exactMatch UMLS:C1420181, + HGNC:11015, + HGNC_symbol:SLC30A4 ; biolink:category biolink:Gene . OMIM:602098 a owl:Class ; @@ -149804,14 +154085,15 @@ OMIM:602098 a owl:Class ; PMID:8018557, PMID:8127874, PMID:9177283 ; - oboInOwl:hasDbXref UMLS:C1335227 ; oboInOwl:hasExactSynonym "PLK1", "polo-like kinase", "polo-like kinase 1", "serine/threonine protein kinase 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5347 ; - skos:exactMatch HGNC_symbol:PLK1 ; + skos:exactMatch UMLS:C1335227, + HGNC:9077, + HGNC_symbol:PLK1 ; biolink:category biolink:Gene . OMIM:602099 a owl:Class ; @@ -149819,10 +154101,10 @@ OMIM:602099 a owl:Class ; IAO:0000142 PMID:11716785, PMID:20110243, PMID:9933301 ; - oboInOwl:hasDbXref UMLS:C1865864 ; oboInOwl:hasExactSynonym "ALS5", "amyotrophic lateral sclerosis 5, juvenile" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C1865864 ; biolink:category biolink:Disease . OMIM:602100 a owl:Class ; @@ -149833,13 +154115,14 @@ OMIM:602100 a owl:Class ; PMID:9143494, PMID:9479508, PMID:9482739 ; - oboInOwl:hasDbXref UMLS:C1418611 ; oboInOwl:hasExactSynonym "PKNOX1", "pbx-regulating protein 1", "pbx/knotted 1 homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5316 ; - skos:exactMatch HGNC_symbol:PKNOX1 ; + skos:exactMatch UMLS:C1418611, + HGNC:9022, + HGNC_symbol:PKNOX1 ; biolink:category biolink:Gene . OMIM:602101 a owl:Class ; @@ -149849,13 +154132,14 @@ OMIM:602101 a owl:Class ; PMID:9192844, PMID:9405660, PMID:9892664 ; - oboInOwl:hasDbXref UMLS:C1413475 ; oboInOwl:hasExactSynonym "CLDN5", "claudin 5", "transmembrane protein deleted 1n velocardiofacial syndrome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7122 ; - skos:exactMatch HGNC_symbol:CLDN5 ; + skos:exactMatch UMLS:C1413475, + HGNC:2047, + HGNC_symbol:CLDN5 ; biolink:category biolink:Gene . OMIM:602102 a owl:Class ; @@ -149865,14 +154149,15 @@ OMIM:602102 a owl:Class ; PMID:8975720, PMID:9199507, PMID:9480761 ; - oboInOwl:hasDbXref UMLS:C0812268 ; oboInOwl:hasExactSynonym "SUPT5H", "chromatin structure regulator, yeast, homolog of", "spt5 homolog, dsif elongation factor subunit", "suppressor of ty 5, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6829 ; - skos:exactMatch HGNC_symbol:SUPT5H ; + skos:exactMatch UMLS:C0812268, + HGNC:11469, + HGNC_symbol:SUPT5H ; biolink:category biolink:Gene . OMIM:602103 a owl:Class ; @@ -149880,14 +154165,15 @@ OMIM:602103 a owl:Class ; IAO:0000142 PMID:7633421, PMID:9196060, PMID:9370297 ; - oboInOwl:hasDbXref UMLS:C1420776 ; oboInOwl:hasExactSynonym "TRAPPC10", "epilepsy holoprosencephaly candidate 1", "trafficking protein particle complex, subunit 10", "transmembrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7109 ; - skos:exactMatch HGNC_symbol:TRAPPC10 ; + skos:exactMatch UMLS:C1420776, + HGNC:11868, + HGNC_symbol:TRAPPC10 ; biolink:category biolink:Gene . OMIM:602104 a owl:Class ; @@ -149898,12 +154184,13 @@ OMIM:602104 a owl:Class ; PMID:9299232 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:118400 ; - oboInOwl:hasDbXref UMLS:C1420022 ; oboInOwl:hasExactSynonym "SH3BP2", "sh3 domain-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6452 ; - skos:exactMatch HGNC_symbol:SH3BP2 ; + skos:exactMatch UMLS:C1420022, + HGNC:10825, + HGNC_symbol:SH3BP2 ; biolink:category biolink:Gene . OMIM:602105 a owl:Class ; @@ -149915,45 +154202,48 @@ OMIM:602105 a owl:Class ; PMID:32814904, PMID:9299235, PMID:9787078 ; - oboInOwl:hasDbXref UMLS:C1334532 ; oboInOwl:hasExactSynonym "MSH4", "muts homolog 4", "muts, e. coli, homolog of, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4438 ; - skos:exactMatch HGNC_symbol:MSH4 ; + skos:exactMatch UMLS:C1334532, + HGNC:7327, + HGNC_symbol:MSH4 ; biolink:category biolink:Gene . OMIM:602106 a owl:Class ; rdfs:label "KCNJ15" ; IAO:0000142 PMID:20085713, PMID:9299242 ; - oboInOwl:hasDbXref UMLS:C1416582 ; oboInOwl:hasExactSynonym "KCNJ15", "kir4.2", "potassium channel, inwardly rectifying, subfamily j, member 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3772 ; - skos:exactMatch HGNC_symbol:KCNJ15 ; + skos:exactMatch UMLS:C1416582, + HGNC:6261, + HGNC_symbol:KCNJ15 ; biolink:category biolink:Gene . OMIM:602107 a owl:Class ; rdfs:label "neuropathy, hereditary thermosensitive" ; IAO:0000142 PMID:9191787, PMID:9674846 ; - oboInOwl:hasDbXref UMLS:C1865856 ; - oboInOwl:hasExactSynonym "neuropathy, hereditary thermosensitive" . + oboInOwl:hasExactSynonym "neuropathy, hereditary thermosensitive" ; + skos:exactMatch UMLS:C1865856 . OMIM:602108 a owl:Class ; rdfs:label "MATN2" ; IAO:0000142 PMID:11124542, PMID:9083061 ; - oboInOwl:hasDbXref UMLS:C1417042 ; oboInOwl:hasExactSynonym "MATN2", "matrilin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4147 ; - skos:exactMatch HGNC_symbol:MATN2 ; + skos:exactMatch UMLS:C1417042, + HGNC:6908, + HGNC_symbol:MATN2 ; biolink:category biolink:Gene . OMIM:602109 a owl:Class ; @@ -149975,15 +154265,16 @@ OMIM:602109 a owl:Class ; PMID:9799608 ; RO:0002525 CHR:9606chr2p24.1 ; RO:0003303 OMIM:140600 ; - oboInOwl:hasDbXref UMLS:C1417043, - UMLS:C1837481, - UMLS:C1846843, - UMLS:C3887526 ; oboInOwl:hasExactSynonym "MATN3", "matrilin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4148 ; - skos:exactMatch HGNC_symbol:MATN3 ; + skos:exactMatch UMLS:C1417043, + UMLS:C1837481, + UMLS:C1846843, + UMLS:C3887526, + HGNC:6909, + HGNC_symbol:MATN3 ; biolink:category biolink:Gene . OMIM:602110 a owl:Class ; @@ -149994,7 +154285,6 @@ OMIM:602110 a owl:Class ; PMID:9192854, PMID:9396714, PMID:9478986 ; - oboInOwl:hasDbXref UMLS:C1442749 ; oboInOwl:hasExactSynonym "SLC29A2", "delayed-early response gene 12", "equilibrative nucleoside transporter 2", @@ -150002,20 +154292,23 @@ OMIM:602110 a owl:Class ; "solute carrier family 29 (nucleoside transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3177 ; - skos:exactMatch HGNC_symbol:SLC29A2 ; + skos:exactMatch UMLS:C1442749, + HGNC:11004, + HGNC_symbol:SLC29A2 ; biolink:category biolink:Gene . OMIM:602112 a owl:Class ; rdfs:label "MPPED1" ; IAO:0000142 PMID:9266672 ; - oboInOwl:hasDbXref UMLS:C1826275 ; oboInOwl:hasExactSynonym "MPPED1", "adult brain protein 239", "chromosome 22 open reading frame 1", "metallophosphoesterase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:758 ; - skos:exactMatch HGNC_symbol:MPPED1 ; + skos:exactMatch UMLS:C1826275, + HGNC:1306, + HGNC_symbol:MPPED1 ; biolink:category biolink:Gene . OMIM:602113 a owl:Class ; @@ -150039,7 +154332,6 @@ OMIM:602113 a owl:Class ; PMID:9247308 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:147920 ; - oboInOwl:hasDbXref UMLS:C1334512 ; oboInOwl:hasExactSynonym "KMT2D", "all1-related gene", "lysine-specific methyltransferase 2d", @@ -150047,14 +154339,16 @@ OMIM:602113 a owl:Class ; "myeloid/lymphoid or mixed lineage leukemia 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8085 ; - skos:exactMatch HGNC_symbol:KMT2D ; + skos:exactMatch UMLS:C1334512, + HGNC:7133, + HGNC_symbol:KMT2D ; biolink:category biolink:Gene . OMIM:602114 a owl:Class ; rdfs:label "nephropathy, progressive tubulointerstitial, with cholestatic liver disease" ; IAO:0000142 PMID:9296539 ; - oboInOwl:hasDbXref UMLS:C1865831 ; - oboInOwl:hasExactSynonym "nephropathy, progressive tubulointerstitial, with cholestatic liver disease" . + oboInOwl:hasExactSynonym "nephropathy, progressive tubulointerstitial, with cholestatic liver disease" ; + skos:exactMatch UMLS:C1865831 . OMIM:602115 a owl:Class ; rdfs:label "FGF10" ; @@ -150081,12 +154375,13 @@ OMIM:602115 a owl:Class ; PMID:9988217 ; RO:0002525 CHR:9606chr5p12 ; RO:0003303 OMIM:149730 ; - oboInOwl:hasDbXref UMLS:C1333535 ; oboInOwl:hasExactSynonym "FGF10", "fibroblast growth factor 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2255 ; - skos:exactMatch HGNC_symbol:FGF10 ; + skos:exactMatch UMLS:C1333535, + HGNC:3666, + HGNC_symbol:FGF10 ; biolink:category biolink:Gene . OMIM:602116 a owl:Class ; @@ -150099,13 +154394,14 @@ OMIM:602116 a owl:Class ; PMID:18614019, PMID:8733125, PMID:9302258 ; - oboInOwl:hasDbXref UMLS:C1333660 ; oboInOwl:hasExactSynonym "YEATS4", "glioma-amplified sequence 41", "yeats domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8089 ; - skos:exactMatch HGNC_symbol:YEATS4 ; + skos:exactMatch UMLS:C1333660, + HGNC:24859, + HGNC_symbol:YEATS4 ; biolink:category biolink:Gene . OMIM:602117 a owl:Class ; @@ -150125,12 +154421,13 @@ OMIM:602117 a owl:Class ; PMID:9630521 ; RO:0002525 CHR:9606chr15q11.2 ; RO:0003303 OMIM:176270 ; - oboInOwl:hasDbXref UMLS:C1417614 ; oboInOwl:hasExactSynonym "NDN", "necdin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4692 ; - skos:exactMatch HGNC_symbol:NDN ; + skos:exactMatch UMLS:C1417614, + HGNC:7675, + HGNC_symbol:NDN ; biolink:category biolink:Gene . OMIM:602118 a owl:Class ; @@ -150144,12 +154441,13 @@ OMIM:602118 a owl:Class ; PMID:9326634 ; RO:0002525 CHR:9606chr5q15-q21.1 ; RO:0003303 OMIM:617682 ; - oboInOwl:hasDbXref UMLS:C1413379 ; oboInOwl:hasExactSynonym "CHD1", "chromodomain helicase dna-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1105 ; - skos:exactMatch HGNC_symbol:CHD1 ; + skos:exactMatch UMLS:C1413379, + HGNC:1915, + HGNC_symbol:CHD1 ; biolink:category biolink:Gene . OMIM:602119 a owl:Class ; @@ -150163,12 +154461,13 @@ OMIM:602119 a owl:Class ; PMID:9326634 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:615369 ; - oboInOwl:hasDbXref UMLS:C1413381 ; oboInOwl:hasExactSynonym "CHD2", "chromodomain helicase dna-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1106 ; - skos:exactMatch HGNC_symbol:CHD2 ; + skos:exactMatch UMLS:C1413381, + HGNC:1917, + HGNC_symbol:CHD2 ; biolink:category biolink:Gene . OMIM:602120 a owl:Class ; @@ -150183,14 +154482,15 @@ OMIM:602120 a owl:Class ; PMID:9688266 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:618205 ; - oboInOwl:hasDbXref UMLS:C1413382 ; oboInOwl:hasExactSynonym "CHD3", "chromodomain helicase dna-binding protein 3", "mi2-alpha", "zinc finger helicase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1107 ; - skos:exactMatch HGNC_symbol:CHD3 ; + skos:exactMatch UMLS:C1413382, + HGNC:1918, + HGNC_symbol:CHD3 ; biolink:category biolink:Gene . OMIM:602121 a owl:Class ; @@ -150208,17 +154508,18 @@ OMIM:602121 a owl:Class ; PMID:9360932 ; RO:0002525 CHR:9606chr5q31.3 ; RO:0003303 OMIM:616632 ; - oboInOwl:hasDbXref UMLS:C1414047, - UMLS:C1852282, - UMLS:C4225261, - UMLS:C4479674 ; oboInOwl:hasExactSynonym "DIAPH1", "dia1", "diaphanous, drosophila, homolog of, 1", "diaphanous-related formin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1729 ; - skos:exactMatch HGNC_symbol:DIAPH1 ; + skos:exactMatch UMLS:C1414047, + UMLS:C1852282, + UMLS:C4225261, + UMLS:C4479674, + HGNC:2876, + HGNC_symbol:DIAPH1 ; biolink:category biolink:Gene . OMIM:602122 a owl:Class ; @@ -150231,12 +154532,13 @@ OMIM:602122 a owl:Class ; PMID:9857079 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:614675 ; - oboInOwl:hasDbXref UMLS:C1420410 ; oboInOwl:hasExactSynonym "SRP72", "signal recognition particle, 72-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6731 ; - skos:exactMatch HGNC_symbol:SRP72 ; + skos:exactMatch UMLS:C1420410, + HGNC:11303, + HGNC_symbol:SRP72 ; biolink:category biolink:Gene . OMIM:602123 a owl:Class ; @@ -150254,16 +154556,17 @@ OMIM:602123 a owl:Class ; PMID:9224693 ; RO:0002525 CHR:9606chr10q22.2 ; RO:0003303 OMIM:618522 ; - oboInOwl:hasDbXref UMLS:C1413102, - UMLS:C2986382, - UMLS:C5193190 ; oboInOwl:hasExactSynonym "CAMK2G", "calcium/calmodulin-dependent protein kinase ii-gamma", "cam kinase 2 gamma subunit", "camkg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:818 ; - skos:exactMatch HGNC_symbol:CAMK2G ; + skos:exactMatch UMLS:C1413102, + UMLS:C2986382, + UMLS:C5193190, + HGNC:1463, + HGNC_symbol:CAMK2G ; biolink:category biolink:Gene . OMIM:602125 a owl:Class ; @@ -150278,29 +154581,31 @@ OMIM:602125 a owl:Class ; PMID:9285799 ; RO:0002525 CHR:9606chr17p12 ; RO:0003303 OMIM:619046 ; - oboInOwl:hasDbXref UMLS:C1413629, - UMLS:C5436682 ; oboInOwl:hasExactSynonym "COX10", "cox10, s. cerevisiae, homolog of", "cytochrome c oxidase assembly factor cox10", "heme a:farnesyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1352 ; - skos:exactMatch HGNC_symbol:COX10 ; + skos:exactMatch UMLS:C1413629, + UMLS:C5436682, + HGNC:2260, + HGNC_symbol:COX10 ; biolink:category biolink:Gene . OMIM:602126 a owl:Class ; rdfs:label "ZBTB14" ; IAO:0000142 PMID:9177479, PMID:9244432 ; - oboInOwl:hasDbXref UMLS:C1421569 ; oboInOwl:hasExactSynonym "ZBTB14", "zf5, mouse, homolog of", "zinc finger protein 161, mouse, homolog of", "zinc finger- and btb domain-containing protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7541 ; - skos:exactMatch HGNC_symbol:ZBTB14 ; + skos:exactMatch UMLS:C1421569, + HGNC:12860, + HGNC_symbol:ZBTB14 ; biolink:category biolink:Gene . OMIM:602127 a owl:Class ; @@ -150308,26 +154613,28 @@ OMIM:602127 a owl:Class ; IAO:0000142 PMID:10965129, PMID:8707825, PMID:9244445 ; - oboInOwl:hasDbXref UMLS:C1420265 ; oboInOwl:hasExactSynonym "SMTN", "smoothelin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6525 ; - skos:exactMatch HGNC_symbol:SMTN ; + skos:exactMatch UMLS:C1420265, + HGNC:11126, + HGNC_symbol:SMTN ; biolink:category biolink:Gene . OMIM:602128 a owl:Class ; rdfs:label "GAS2L1" ; IAO:0000142 PMID:12584248, PMID:8975699 ; - oboInOwl:hasDbXref UMLS:C1424663 ; oboInOwl:hasExactSynonym "GAS2L1", "gar22", "gas2-related on chromosome 22", "growth arrest-specific 2-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10634 ; - skos:exactMatch HGNC_symbol:GAS2L1 ; + skos:exactMatch UMLS:C1424663, + HGNC:16955, + HGNC_symbol:GAS2L1 ; biolink:category biolink:Gene . OMIM:602129 a owl:Class ; @@ -150341,13 +154648,14 @@ OMIM:602129 a owl:Class ; PMID:9490638 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:609753 ; - oboInOwl:hasDbXref UMLS:C1417572 ; oboInOwl:hasExactSynonym "MYO9B", "myosin 9b", "myosin, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4650 ; - skos:exactMatch HGNC_symbol:MYO9B ; + skos:exactMatch UMLS:C1417572, + HGNC:7609, + HGNC_symbol:MYO9B ; biolink:category biolink:Gene . OMIM:602130 a owl:Class ; @@ -150359,7 +154667,6 @@ OMIM:602130 a owl:Class ; PMID:8943323 ; RO:0002525 CHR:9606chr3p21.2 ; RO:0003303 OMIM:617111 ; - oboInOwl:hasDbXref UMLS:C1417028 ; oboInOwl:hasExactSynonym "3pk", "MAPKAPK3", "mapkap kinase 3", @@ -150367,7 +154674,9 @@ OMIM:602130 a owl:Class ; "mitogen-activated protein kinase-activated protein kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7867 ; - skos:exactMatch HGNC_symbol:MAPKAPK3 ; + skos:exactMatch UMLS:C1417028, + HGNC:6888, + HGNC_symbol:MAPKAPK3 ; biolink:category biolink:Gene . OMIM:602131 a owl:Class ; @@ -150378,7 +154687,6 @@ OMIM:602131 a owl:Class ; PMID:22444668, PMID:9328465, PMID:9520460 ; - oboInOwl:hasDbXref UMLS:C1335210 ; oboInOwl:hasExactSynonym "PHLDA2", "beckwith-wiedemann region 1c", "imprinted 1n placenta and liver", @@ -150387,34 +154695,38 @@ OMIM:602131 a owl:Class ; "tumor-suppressing subchromosomal transferable fragment candidate gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7262 ; - skos:exactMatch HGNC_symbol:PHLDA2 ; + skos:exactMatch UMLS:C1335210, + HGNC:12385, + HGNC_symbol:PHLDA2 ; biolink:category biolink:Gene . OMIM:602133 a owl:Class ; rdfs:label "PFAS" ; IAO:0000142 PMID:8110788, PMID:9328467 ; - oboInOwl:hasDbXref UMLS:C1418481 ; oboInOwl:hasExactSynonym "PFAS", "fgam synthase", "phosphoribosylformylglycinamide amidotransferase", "phosphoribosylformylglycinamidine synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5198 ; - skos:exactMatch HGNC_symbol:PFAS ; + skos:exactMatch UMLS:C1418481, + HGNC:8863, + HGNC_symbol:PFAS ; biolink:category biolink:Gene . OMIM:602135 a owl:Class ; rdfs:label "DNALI1" ; IAO:0000142 PMID:9284741 ; - oboInOwl:hasDbXref UMLS:C1422587 ; oboInOwl:hasExactSynonym "DNALI1", "dynein, axonemal, light intermediate polypeptide 1", "inner dynein arm, chlamydomonas, homolog of", "p28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7802 ; - skos:exactMatch HGNC_symbol:DNALI1 ; + skos:exactMatch UMLS:C1422587, + HGNC:14353, + HGNC_symbol:DNALI1 ; biolink:category biolink:Gene . OMIM:602136 a owl:Class ; @@ -150439,13 +154751,14 @@ OMIM:602136 a owl:Class ; PMID:9817926 ; RO:0002525 CHR:9606chr7q21.2 ; RO:0003303 OMIM:601539 ; - oboInOwl:hasDbXref UMLS:C1418469 ; oboInOwl:hasExactSynonym "PEX1", "peroxin 1", "peroxisome biogenesis factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5189 ; - skos:exactMatch HGNC_symbol:PEX1 ; + skos:exactMatch UMLS:C1418469, + HGNC:8850, + HGNC_symbol:PEX1 ; biolink:category biolink:Gene . OMIM:602137 a owl:Class ; @@ -150461,15 +154774,16 @@ OMIM:602137 a owl:Class ; PMID:9878551 ; RO:0002525 CHR:9606chr5q31.3 ; RO:0003303 OMIM:618235 ; - oboInOwl:hasDbXref UMLS:C1417622, - UMLS:C4748770 ; oboInOwl:hasExactSynonym "NDUFA2", "b8 protein", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex 2", "nadh-ubiquinone oxidoreductase subunit a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4695 ; - skos:exactMatch HGNC_symbol:NDUFA2 ; + skos:exactMatch UMLS:C1417622, + UMLS:C4748770, + HGNC:7685, + HGNC_symbol:NDUFA2 ; biolink:category biolink:Gene . OMIM:602138 a owl:Class ; @@ -150480,13 +154794,14 @@ OMIM:602138 a owl:Class ; PMID:9763676 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:618253 ; - oboInOwl:hasDbXref UMLS:C1417627 ; oboInOwl:hasExactSynonym "NDUFA6", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex, 6", "nadh-ubiquinone oxidoreductase subunit a6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4700 ; - skos:exactMatch HGNC_symbol:NDUFA6 ; + skos:exactMatch UMLS:C1417627, + HGNC:7690, + HGNC_symbol:NDUFA6 ; biolink:category biolink:Gene . OMIM:602139 a owl:Class ; @@ -150494,13 +154809,14 @@ OMIM:602139 a owl:Class ; IAO:0000142 PMID:9345899, PMID:9763676, PMID:9878551 ; - oboInOwl:hasDbXref UMLS:C1417628 ; oboInOwl:hasExactSynonym "NDUFA7", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex 7", "nadh-ubiquinone oxidoreductase subunit a7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4701 ; - skos:exactMatch HGNC_symbol:NDUFA7 ; + skos:exactMatch UMLS:C1417628, + HGNC:7691, + HGNC_symbol:NDUFA7 ; biolink:category biolink:Gene . OMIM:602140 a owl:Class ; @@ -150511,13 +154827,14 @@ OMIM:602140 a owl:Class ; PMID:9878551 ; RO:0002525 CHR:9606chr10q24.31 ; RO:0003303 OMIM:618252 ; - oboInOwl:hasDbXref UMLS:C1417640 ; oboInOwl:hasExactSynonym "NDUFB8", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 8", "nadh-ubiquinone oxidoreductase subunit b8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4714 ; - skos:exactMatch HGNC_symbol:NDUFB8 ; + skos:exactMatch UMLS:C1417640, + HGNC:7703, + HGNC_symbol:NDUFB8 ; biolink:category biolink:Gene . OMIM:602141 a owl:Class ; @@ -150531,14 +154848,15 @@ OMIM:602141 a owl:Class ; PMID:9837812 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:618222 ; - oboInOwl:hasDbXref UMLS:C1417651 ; oboInOwl:hasExactSynonym "NDUFS8", "complex i, mitochondrial respiratory chain, 23-kd subunit", "nadh-ubiquinone oxidoreductase fe-s protein 8", "tyky" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4728 ; - skos:exactMatch HGNC_symbol:NDUFS8 ; + skos:exactMatch UMLS:C1417651, + HGNC:7715, + HGNC_symbol:NDUFS8 ; biolink:category biolink:Gene . OMIM:602142 a owl:Class ; @@ -150552,12 +154870,13 @@ OMIM:602142 a owl:Class ; PMID:9588182 ; RO:0002525 CHR:9606chr3p22.2 ; RO:0003303 OMIM:151600 ; - oboInOwl:hasDbXref UMLS:C1418635 ; oboInOwl:hasExactSynonym "PLCD1", "phospholipase c, delta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5333 ; - skos:exactMatch HGNC_symbol:PLCD1 ; + skos:exactMatch UMLS:C1418635, + HGNC:9060, + HGNC_symbol:PLCD1 ; biolink:category biolink:Gene . OMIM:602143 a owl:Class ; @@ -150570,14 +154889,15 @@ OMIM:602143 a owl:Class ; PMID:8668206, PMID:9345910, PMID:9748285 ; - oboInOwl:hasDbXref UMLS:C0812245 ; oboInOwl:hasExactSynonym "53bp2", "TP53BP2", "apoptosis-stimulating protein of p53, 2", "tumor protein p53-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7159 ; - skos:exactMatch HGNC_symbol:TP53BP2 ; + skos:exactMatch UMLS:C0812245, + HGNC:12000, + HGNC_symbol:TP53BP2 ; biolink:category biolink:Gene . OMIM:602144 a owl:Class ; @@ -150587,12 +154907,13 @@ OMIM:602144 a owl:Class ; PMID:9367677 ; RO:0002525 CHR:9606chr1p22.1 ; RO:0003303 OMIM:617644 ; - oboInOwl:hasDbXref UMLS:C1412822 ; oboInOwl:hasExactSynonym "BRDT", "bromodomain, testis-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:676 ; - skos:exactMatch HGNC_symbol:BRDT ; + skos:exactMatch UMLS:C1412822, + HGNC:1105, + HGNC_symbol:BRDT ; biolink:category biolink:Gene . OMIM:602145 a owl:Class ; @@ -150600,13 +154921,14 @@ OMIM:602145 a owl:Class ; IAO:0000142 PMID:16832058, PMID:7556453, PMID:9345902 ; - oboInOwl:hasDbXref UMLS:C1418226 ; oboInOwl:hasExactSynonym "PA2G4", "erbb3-binding protein 1", "proliferation-associated 2g4, 38-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5036 ; - skos:exactMatch HGNC_symbol:PA2G4 ; + skos:exactMatch UMLS:C1418226, + HGNC:8550, + HGNC_symbol:PA2G4 ; biolink:category biolink:Gene . OMIM:602146 a owl:Class ; @@ -150624,14 +154946,15 @@ OMIM:602146 a owl:Class ; PMID:9865699 ; RO:0002525 CHR:9606chr1q25.2 ; RO:0003303 OMIM:262700 ; - oboInOwl:hasDbXref UMLS:C1427728, - UMLS:C1865797 ; oboInOwl:hasExactSynonym "LHX4", "lhx4/ighg1 fusion gene", "lim homeobox gene 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89884 ; - skos:exactMatch HGNC_symbol:LHX4 ; + skos:exactMatch UMLS:C1427728, + UMLS:C1865797, + HGNC:21734, + HGNC_symbol:LHX4 ; biolink:category biolink:Gene . OMIM:602147 a owl:Class ; @@ -150643,13 +154966,14 @@ OMIM:602148 a owl:Class ; PMID:8625802, PMID:8678988, PMID:9337405 ; - oboInOwl:hasDbXref UMLS:C1420316 ; oboInOwl:hasExactSynonym "SOX1", "sry-box 1", "sry-related hmg-box gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6656 ; - skos:exactMatch HGNC_symbol:SOX1 ; + skos:exactMatch UMLS:C1420316, + HGNC:11189, + HGNC_symbol:SOX1 ; biolink:category biolink:Gene . OMIM:602149 a owl:Class ; @@ -150674,7 +154998,6 @@ OMIM:602149 a owl:Class ; PMID:9337397 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:186550 ; - oboInOwl:hasDbXref UMLS:C1418595 ; oboInOwl:hasExactSynonym "PITX1", "backfoot, mouse, homolog of", "paired-like homeodomain transcription factor 1", @@ -150682,7 +155005,9 @@ OMIM:602149 a owl:Class ; "pituitary otx-related factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5307 ; - skos:exactMatch HGNC_symbol:PITX1 ; + skos:exactMatch UMLS:C1418595, + HGNC:9004, + HGNC_symbol:PITX1 ; biolink:category biolink:Gene . OMIM:602150 a owl:Class ; @@ -150704,7 +155029,6 @@ OMIM:602150 a owl:Class ; PMID:9721220 ; RO:0002525 CHR:9606chr8q11.21 ; RO:0003303 OMIM:608890 ; - oboInOwl:hasDbXref UMLS:C1420248 ; oboInOwl:hasExactSynonym "SNAI2", "neural crest transcription factor slug", "slug, chicken, homolog of", @@ -150712,7 +155036,9 @@ OMIM:602150 a owl:Class ; "snail, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6591 ; - skos:exactMatch HGNC_symbol:SNAI2 ; + skos:exactMatch UMLS:C1420248, + HGNC:11094, + HGNC_symbol:SNAI2 ; biolink:category biolink:Gene . OMIM:602151 a owl:Class ; @@ -150722,12 +155048,13 @@ OMIM:602151 a owl:Class ; PMID:23371553, PMID:8662242, PMID:9192851 ; - oboInOwl:hasDbXref UMLS:C1414201 ; oboInOwl:hasExactSynonym "DVL2", "dishevelled 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1856 ; - skos:exactMatch HGNC_symbol:DVL2 ; + skos:exactMatch UMLS:C1414201, + HGNC:3086, + HGNC_symbol:DVL2 ; biolink:category biolink:Gene . OMIM:602152 a owl:Class ; @@ -150736,11 +155063,11 @@ OMIM:602152 a owl:Class ; PMID:2745140, PMID:29891882, PMID:9375913 ; - oboInOwl:hasDbXref UMLS:C1865794 ; oboInOwl:hasExactSynonym "RHYNS", "retinitis pigmentosa syndrome", "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia", "rhyns syndrome" ; + skos:exactMatch UMLS:C1865794 ; biolink:category biolink:Disease . OMIM:602153 a owl:Class ; @@ -150752,7 +155079,6 @@ OMIM:602153 a owl:Class ; PMID:9665406 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:158000 ; - oboInOwl:hasDbXref UMLS:C1825768 ; oboInOwl:hasExactSynonym "KRT81", "k2.9", "k81", @@ -150762,30 +155088,33 @@ OMIM:602153 a owl:Class ; "keratin, hard, iia ii, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3887 ; - skos:exactMatch HGNC_symbol:KRT81 ; + skos:exactMatch UMLS:C1825768, + HGNC:6458, + HGNC_symbol:KRT81 ; biolink:category biolink:Gene . OMIM:602154 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:9027504 ; - oboInOwl:hasDbXref UMLS:C1865791 ; oboInOwl:hasExactSynonym "noncoding transcript 1n t cells", "ntt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7956 ; + skos:exactMatch UMLS:C1865791 ; biolink:category biolink:Gene . OMIM:602155 a owl:Class ; rdfs:label "UBXN8" ; IAO:0000142 PMID:9027507 ; - oboInOwl:hasDbXref UMLS:C1823585 ; oboInOwl:hasExactSynonym "UBXN8", "d8s2298e", "reproduction/chromosome 8", "ubx domain protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7993 ; - skos:exactMatch HGNC_symbol:UBXN8 ; + skos:exactMatch UMLS:C1823585, + HGNC:30307, + HGNC_symbol:UBXN8 ; biolink:category biolink:Gene . OMIM:602156 a owl:Class ; @@ -150803,7 +155132,6 @@ OMIM:602157 a owl:Class ; PMID:8398153, PMID:8558240, PMID:9344654 ; - oboInOwl:hasDbXref UMLS:C1334890 ; oboInOwl:hasExactSynonym "NOVA1", "neurooncologic ventral antigen 1", "nova alternative splicing regulator 1", @@ -150811,7 +155139,9 @@ OMIM:602157 a owl:Class ; "ventral neuron-specific protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4857 ; - skos:exactMatch HGNC_symbol:NOVA1 ; + skos:exactMatch UMLS:C1334890, + HGNC:7886, + HGNC_symbol:NOVA1 ; biolink:category biolink:Gene . OMIM:602158 a owl:Class ; @@ -150821,20 +155151,20 @@ OMIM:602158 a owl:Class ; PMID:8579598, PMID:8975725, PMID:9359436 ; - oboInOwl:hasDbXref UMLS:C1413501 ; oboInOwl:hasExactSynonym "CLNS1A", "chloride channel, nucleotide sensitive, 1a", "chloride conductance regulator, volume sensitive" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1207 ; - skos:exactMatch HGNC_symbol:CLNS1A ; + skos:exactMatch UMLS:C1413501, + HGNC:2080, + HGNC_symbol:CLNS1A ; biolink:category biolink:Gene . OMIM:602159 a owl:Class ; rdfs:label "CORO2A" ; IAO:0000142 PMID:21331046, PMID:8985118 ; - oboInOwl:hasDbXref UMLS:C1413625 ; oboInOwl:hasExactSynonym "CORO2A", "coronin 2a", "coronin-like protein B", @@ -150842,20 +155172,23 @@ OMIM:602159 a owl:Class ; "wd repeat-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7464 ; - skos:exactMatch HGNC_symbol:CORO2A ; + skos:exactMatch UMLS:C1413625, + HGNC:2255, + HGNC_symbol:CORO2A ; biolink:category biolink:Gene . OMIM:602160 a owl:Class ; rdfs:label "TFDP2" ; IAO:0000142 PMID:7784053, PMID:9027491 ; - oboInOwl:hasDbXref UMLS:C1336607 ; oboInOwl:hasExactSynonym "TFDP2", "e2f dimerization partner 2", "transcription factor dp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7029 ; - skos:exactMatch HGNC_symbol:TFDP2 ; + skos:exactMatch UMLS:C1336607, + HGNC:11751, + HGNC_symbol:TFDP2 ; biolink:category biolink:Gene . OMIM:602161 a owl:Class ; @@ -150864,7 +155197,6 @@ OMIM:602161 a owl:Class ; PMID:10591649, PMID:7789512, PMID:9344661 ; - oboInOwl:hasDbXref UMLS:C1419042 ; oboInOwl:hasExactSynonym "PSME2", "mcp activator, 31-kd subunit", "pa28-beta", @@ -150872,18 +155204,21 @@ OMIM:602161 a owl:Class ; "proteasome activator subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5721 ; - skos:exactMatch HGNC_symbol:PSME2 ; + skos:exactMatch UMLS:C1419042, + HGNC:9569, + HGNC_symbol:PSME2 ; biolink:category biolink:Gene . OMIM:602163 a owl:Class ; rdfs:label "UBE2E2" ; IAO:0000142 PMID:9371400 ; - oboInOwl:hasDbXref UMLS:C1421277 ; oboInOwl:hasExactSynonym "UBE2E2", "ubiquitin-conjugating enzyme e2e 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7325 ; - skos:exactMatch HGNC_symbol:UBE2E2 ; + skos:exactMatch UMLS:C1421277, + HGNC:12478, + HGNC_symbol:UBE2E2 ; biolink:category biolink:Gene . OMIM:602164 a owl:Class ; @@ -150895,7 +155230,6 @@ OMIM:602164 a owl:Class ; PMID:8578609, PMID:9276448, PMID:9371406 ; - oboInOwl:hasDbXref UMLS:C1415813 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 4", "HTR4", "cardiac 5-ht4 receptor", @@ -150903,7 +155237,9 @@ OMIM:602164 a owl:Class ; "serotonin 5-ht-4a receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3360 ; - skos:exactMatch HGNC_symbol:HTR4 ; + skos:exactMatch UMLS:C1415813, + HGNC:5299, + HGNC_symbol:HTR4 ; biolink:category biolink:Gene . OMIM:602165 a owl:Class ; @@ -150915,13 +155251,14 @@ OMIM:602165 a owl:Class ; PMID:16186106, PMID:16393995, PMID:9371408 ; - oboInOwl:hasDbXref UMLS:C1823489 ; oboInOwl:hasExactSynonym "TRIM27", "ret finger protein", "tripartite motif-containing protein 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5987 ; - skos:exactMatch HGNC_symbol:TRIM27 ; + skos:exactMatch UMLS:C1823489, + HGNC:9975, + HGNC_symbol:TRIM27 ; biolink:category biolink:Gene . OMIM:602166 a owl:Class ; @@ -150935,8 +155272,6 @@ OMIM:602166 a owl:Class ; PMID:9707615 ; RO:0002525 CHR:9606chr15q25.2 ; RO:0003303 OMIM:617276 ; - oboInOwl:hasDbXref UMLS:C1412447, - UMLS:C4310637 ; oboInOwl:hasExactSynonym "AP3B2", "adaptor-related protein complex 3, beta-2 subunit", "adaptor-related protein complex 3b, neuron-specific, beta-3b", @@ -150944,7 +155279,10 @@ OMIM:602166 a owl:Class ; "neuronal adaptin-like protein, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8120 ; - skos:exactMatch HGNC_symbol:AP3B2 ; + skos:exactMatch UMLS:C1412447, + UMLS:C4310637, + HGNC:567, + HGNC_symbol:AP3B2 ; biolink:category biolink:Gene . OMIM:602167 a owl:Class ; @@ -150957,14 +155295,15 @@ OMIM:602167 a owl:Class ; PMID:9344655 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:608565 ; - oboInOwl:hasDbXref UMLS:C1414465 ; oboInOwl:hasExactSynonym "ESRRB", "estrogen receptor-like 2", "estrogen-related receptor 2", "estrogen-related receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2103 ; - skos:exactMatch HGNC_symbol:ESRRB ; + skos:exactMatch UMLS:C1414465, + HGNC:3473, + HGNC_symbol:ESRRB ; biolink:category biolink:Gene . OMIM:602168 a owl:Class ; @@ -150974,27 +155313,29 @@ OMIM:602168 a owl:Class ; PMID:9344656 ; RO:0002525 CHR:9606chr14q32.2 ; RO:0003303 OMIM:607596 ; - oboInOwl:hasDbXref UMLS:C1421468 ; oboInOwl:hasExactSynonym "VRK1", "vaccinia virus b1r-related kinase 1", "vaccinia-related kinase 1", "vrk serine/threonine kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7443 ; - skos:exactMatch HGNC_symbol:VRK1 ; + skos:exactMatch UMLS:C1421468, + HGNC:12718, + HGNC_symbol:VRK1 ; biolink:category biolink:Gene . OMIM:602169 a owl:Class ; rdfs:label "VRK2" ; IAO:0000142 PMID:9344656 ; - oboInOwl:hasDbXref UMLS:C1421469 ; oboInOwl:hasExactSynonym "VRK2", "vaccinia virus b1r-related kinase 2", "vaccinia-related kinase 2", "vrk serine/threonine kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7444 ; - skos:exactMatch HGNC_symbol:VRK2 ; + skos:exactMatch UMLS:C1421469, + HGNC:12719, + HGNC_symbol:VRK2 ; biolink:category biolink:Gene . OMIM:602170 a owl:Class ; @@ -151041,27 +155382,29 @@ OMIM:602170 a owl:Class ; PMID:9734363 ; RO:0002525 CHR:9606chr3p22.2 ; RO:0003303 OMIM:153600 ; - oboInOwl:hasDbXref UMLS:C1417530, - UMLS:C2677092, - UMLS:C3549870 ; oboInOwl:hasExactSynonym "MYD88", "myd88 innate immune signal transduction adaptor", "myeloid differentiation primary response gene 88" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4615 ; - skos:exactMatch HGNC_symbol:MYD88 ; + skos:exactMatch UMLS:C1417530, + UMLS:C2677092, + UMLS:C3549870, + HGNC:7562, + HGNC_symbol:MYD88 ; biolink:category biolink:Gene . OMIM:602171 a owl:Class ; rdfs:label "GPA33" ; IAO:0000142 PMID:9012807 ; - oboInOwl:hasDbXref UMLS:C1364020 ; oboInOwl:hasExactSynonym "GPA33", "cell surface antigen a33", "glycoprotein a33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10223 ; - skos:exactMatch HGNC_symbol:GPA33 ; + skos:exactMatch UMLS:C1364020, + HGNC:4445, + HGNC_symbol:GPA33 ; biolink:category biolink:Gene . OMIM:602172 a owl:Class ; @@ -151069,14 +155412,15 @@ OMIM:602172 a owl:Class ; IAO:0000142 PMID:10051404, PMID:11535594, PMID:8943286 ; - oboInOwl:hasDbXref UMLS:C1413895 ; oboInOwl:hasExactSynonym "CYP8B1", "cyp12", "cytochrome p450, subfamily viiib, polypeptide 1", "sterol 12-alpha-hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1582 ; - skos:exactMatch HGNC_symbol:CYP8B1 ; + skos:exactMatch UMLS:C1413895, + HGNC:2653, + HGNC_symbol:CYP8B1 ; biolink:category biolink:Gene . OMIM:602173 a owl:Class ; @@ -151085,7 +155429,6 @@ OMIM:602173 a owl:Class ; PMID:20071467, PMID:31167774, PMID:9020021 ; - oboInOwl:hasDbXref UMLS:C1420761 ; oboInOwl:hasExactSynonym "SEC62", "htp1", "sec62 homolog, preprotein translocation factor", @@ -151093,42 +155436,47 @@ OMIM:602173 a owl:Class ; "translocation protein 1, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7095 ; - skos:exactMatch HGNC_symbol:SEC62 ; + skos:exactMatch UMLS:C1420761, + HGNC:11846, + HGNC_symbol:SEC62 ; biolink:category biolink:Gene . OMIM:602174 a owl:Class ; rdfs:label "GPR25" ; IAO:0000142 PMID:9020062 ; - oboInOwl:hasDbXref UMLS:C1415218 ; oboInOwl:hasExactSynonym "GPR25", "g protein-coupled receptor 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2848 ; - skos:exactMatch HGNC_symbol:GPR25 ; + skos:exactMatch UMLS:C1415218, + HGNC:4480, + HGNC_symbol:GPR25 ; biolink:category biolink:Gene . OMIM:602175 a owl:Class ; rdfs:label "PSMB2" ; IAO:0000142 PMID:9344661 ; - oboInOwl:hasDbXref UMLS:C1419012 ; oboInOwl:hasExactSynonym "PSMB2", "proteasome subunit beta-4", "proteasome subunit, beta-type, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5690 ; - skos:exactMatch HGNC_symbol:PSMB2 ; + skos:exactMatch UMLS:C1419012, + HGNC:9539, + HGNC_symbol:PSMB2 ; biolink:category biolink:Gene . OMIM:602176 a owl:Class ; rdfs:label "PSMB3" ; IAO:0000142 PMID:9344661 ; - oboInOwl:hasDbXref UMLS:C1419013 ; oboInOwl:hasExactSynonym "PSMB3", "proteasome subunit beta-3", "proteasome subunit, beta-type, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5691 ; - skos:exactMatch HGNC_symbol:PSMB3 ; + skos:exactMatch UMLS:C1419013, + HGNC:9540, + HGNC_symbol:PSMB3 ; biolink:category biolink:Gene . OMIM:602177 a owl:Class ; @@ -151141,13 +155489,14 @@ OMIM:602177 a owl:Class ; PMID:9344661 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:617591 ; - oboInOwl:hasDbXref UMLS:C1419014 ; oboInOwl:hasExactSynonym "PSMB4", "proteasome subunit beta-7", "proteasome subunit, beta-type, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5692 ; - skos:exactMatch HGNC_symbol:PSMB4 ; + skos:exactMatch UMLS:C1419014, + HGNC:9541, + HGNC_symbol:PSMB4 ; biolink:category biolink:Gene . OMIM:602178 a owl:Class ; @@ -151155,23 +155504,25 @@ OMIM:602178 a owl:Class ; IAO:0000142 PMID:1939097, PMID:23673665, PMID:9344663 ; - oboInOwl:hasDbXref UMLS:C1413373 ; oboInOwl:hasExactSynonym "CHAD", "chondroadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1101 ; - skos:exactMatch HGNC_symbol:CHAD ; + skos:exactMatch UMLS:C1413373, + HGNC:1909, + HGNC_symbol:CHAD ; biolink:category biolink:Gene . OMIM:602179 a owl:Class ; rdfs:label "HSPB2" ; IAO:0000142 PMID:9344664 ; - oboInOwl:hasDbXref UMLS:C1415768 ; oboInOwl:hasExactSynonym "HSPB2", "heat-shock 27-kd protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3316 ; - skos:exactMatch HGNC_symbol:HSPB2 ; + skos:exactMatch UMLS:C1415768, + HGNC:5247, + HGNC_symbol:HSPB2 ; biolink:category biolink:Gene . OMIM:602180 a owl:Class ; @@ -151185,13 +155536,14 @@ OMIM:602180 a owl:Class ; PMID:9346962, PMID:9651531, PMID:9679770 ; - oboInOwl:hasDbXref UMLS:C1420070 ; oboInOwl:hasExactSynonym "SIPA1", "signal-induced proliferation-associated gene 1", "spa1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6494 ; - skos:exactMatch HGNC_symbol:SIPA1 ; + skos:exactMatch UMLS:C1420070, + HGNC:10885, + HGNC_symbol:SIPA1 ; biolink:category biolink:Gene . OMIM:602181 a owl:Class ; @@ -151201,26 +155553,28 @@ OMIM:602181 a owl:Class ; PMID:28546213, PMID:7651391, PMID:9003410 ; - oboInOwl:hasDbXref UMLS:C1822796 ; oboInOwl:hasExactSynonym "SND1", "ebna2 coactivator p100", "staphylococcal nuclease domain- and tudor domain-containing protein 1", "tudor-sn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27044 ; - skos:exactMatch HGNC_symbol:SND1 ; + skos:exactMatch UMLS:C1822796, + HGNC:30646, + HGNC_symbol:SND1 ; biolink:category biolink:Gene . OMIM:602182 a owl:Class ; rdfs:label "ENPP3" ; IAO:0000142 PMID:10524196 ; - oboInOwl:hasDbXref UMLS:C1414409 ; oboInOwl:hasExactSynonym "ENPP3", "ectonucleotide pyrophosphatase/phosphodiesterase 3", "phosphodiesterase i/nucleotide pyrophosphatase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5169 ; - skos:exactMatch HGNC_symbol:ENPP3 ; + skos:exactMatch UMLS:C1414409, + HGNC:3358, + HGNC_symbol:ENPP3 ; biolink:category biolink:Gene . OMIM:602183 a owl:Class ; @@ -151235,27 +155589,29 @@ OMIM:602183 a owl:Class ; PMID:9426254 ; RO:0002525 CHR:9606chr4p15.33 ; RO:0003303 OMIM:613330 ; - oboInOwl:hasDbXref UMLS:C1412734 ; oboInOwl:hasExactSynonym "NKX3-2", "bagpipe homeobox, drosophila, homolog of, 1", "nk3 homeobox 2", "nkx3.2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:579 ; - skos:exactMatch HGNC_symbol:NKX3-2 ; + skos:exactMatch UMLS:C1412734, + HGNC:951, + HGNC_symbol:NKX3-2 ; biolink:category biolink:Gene . OMIM:602184 a owl:Class ; rdfs:label "NDUFV3" ; IAO:0000142 PMID:10950923, PMID:9344673 ; - oboInOwl:hasDbXref UMLS:C1417655 ; oboInOwl:hasExactSynonym "NDUFV3", "complex i, mitochondrial respiratory chain, 10-kd subunit", "nadh-ubiquinone oxidoreductase flavoprotein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4731 ; - skos:exactMatch HGNC_symbol:NDUFV3 ; + skos:exactMatch UMLS:C1417655, + HGNC:7719, + HGNC_symbol:NDUFV3 ; biolink:category biolink:Gene . OMIM:602185 a owl:Class ; @@ -151272,26 +155628,28 @@ OMIM:602186 a owl:Class ; PMID:2017159, PMID:3839317, PMID:9344675 ; - oboInOwl:hasDbXref UMLS:C1421447 ; oboInOwl:hasExactSynonym "VGF", "neuroendocrine regulatory peptide 1", "neuroendocrine regulatory peptide 2", "vgf, nerve growth factor-inducible" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7425 ; - skos:exactMatch HGNC_symbol:VGF ; + skos:exactMatch UMLS:C1421447, + HGNC:12684, + HGNC_symbol:VGF ; biolink:category biolink:Gene . OMIM:602187 a owl:Class ; rdfs:label "ZNF195" ; IAO:0000142 PMID:7959730, PMID:9344677 ; - oboInOwl:hasDbXref UMLS:C1421683 ; oboInOwl:hasExactSynonym "ZNF195", "zinc finger protein 195" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7748 ; - skos:exactMatch HGNC_symbol:ZNF195 ; + skos:exactMatch UMLS:C1421683, + HGNC:12986, + HGNC_symbol:ZNF195 ; biolink:category biolink:Gene . OMIM:602188 a owl:Class ; @@ -151308,7 +155666,6 @@ OMIM:602188 a owl:Class ; PMID:7898931, PMID:8510926, PMID:9789074 ; - oboInOwl:hasDbXref UMLS:C1333338 ; oboInOwl:hasExactSynonym "EPHA4", "ephrin receptor epha4", "hek8", @@ -151316,7 +155673,9 @@ OMIM:602188 a owl:Class ; "tyro1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2043 ; - skos:exactMatch HGNC_symbol:EPHA4 ; + skos:exactMatch UMLS:C1333338, + HGNC:3388, + HGNC_symbol:EPHA4 ; biolink:category biolink:Gene . OMIM:602189 a owl:Class ; @@ -151324,12 +155683,13 @@ OMIM:602189 a owl:Class ; IAO:0000142 PMID:11301003, PMID:8602223, PMID:9344672 ; - oboInOwl:hasDbXref UMLS:C1335617 ; oboInOwl:hasExactSynonym "RGS3", "regulator of g protein signaling 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5998 ; - skos:exactMatch HGNC_symbol:RGS3 ; + skos:exactMatch UMLS:C1335617, + HGNC:9999, + HGNC_symbol:RGS3 ; biolink:category biolink:Gene . OMIM:602190 a owl:Class ; @@ -151338,13 +155698,14 @@ OMIM:602190 a owl:Class ; PMID:15902206, PMID:16314414, PMID:7898931 ; - oboInOwl:hasDbXref UMLS:C1414430 ; oboInOwl:hasExactSynonym "EPHA7", "ephrin receptor epha7", "hek11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2045 ; - skos:exactMatch HGNC_symbol:EPHA7 ; + skos:exactMatch UMLS:C1414430, + HGNC:3390, + HGNC_symbol:EPHA7 ; biolink:category biolink:Gene . OMIM:602191 a owl:Class ; @@ -151354,7 +155715,6 @@ OMIM:602191 a owl:Class ; PMID:9234700, PMID:9395241, PMID:9463090 ; - oboInOwl:hasDbXref UMLS:C1366763 ; oboInOwl:hasExactSynonym "ELF3", "e74-like ets transcription factor 3", "e74-like factor 3", @@ -151362,7 +155722,9 @@ OMIM:602191 a owl:Class ; "ets domain transcription factor, serine box" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1999 ; - skos:exactMatch HGNC_symbol:ELF3 ; + skos:exactMatch UMLS:C1366763, + HGNC:3318, + HGNC_symbol:ELF3 ; biolink:category biolink:Gene . OMIM:602192 a owl:Class ; @@ -151401,16 +155763,17 @@ OMIM:602192 a owl:Class ; PMID:9618175 ; RO:0002525 CHR:9606chr15q21.3 ; RO:0003303 OMIM:615590 ; - oboInOwl:hasDbXref UMLS:C0406811, - UMLS:C1412181, - UMLS:C4016772 ; oboInOwl:hasExactSynonym "ADAM10", "a disintegrin and metalloproteinase domain 10", "ad10", "kuzbanian, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:102 ; - skos:exactMatch HGNC_symbol:ADAM10 ; + skos:exactMatch UMLS:C0406811, + UMLS:C1412181, + UMLS:C4016772, + HGNC:188, + HGNC_symbol:ADAM10 ; biolink:category biolink:Gene . OMIM:602193 a owl:Class ; @@ -151424,13 +155787,14 @@ OMIM:602193 a owl:Class ; PMID:8986748, PMID:9344680, PMID:9396714 ; - oboInOwl:hasDbXref UMLS:C1420171 ; oboInOwl:hasExactSynonym "SLC29A1", "equilibrative nucleoside transporter 1", "solute carrier family 29 (nucleoside transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2030 ; - skos:exactMatch HGNC_symbol:SLC29A1 ; + skos:exactMatch UMLS:C1420171, + HGNC:11003, + HGNC_symbol:SLC29A1 ; biolink:category biolink:Gene . OMIM:602194 a owl:Class ; @@ -151457,14 +155821,15 @@ OMIM:602194 a owl:Class ; PMID:9852107 ; RO:0002525 CHR:9606chr10q26.13 ; RO:0003303 OMIM:610149 ; - oboInOwl:hasDbXref UMLS:C1825552 ; oboInOwl:hasExactSynonym "HTRA1", "htra serine peptidase 1", "htra, e. coli, homolog of", "protease, serine, 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5654 ; - skos:exactMatch HGNC_symbol:HTRA1 ; + skos:exactMatch UMLS:C1825552, + HGNC:9476, + HGNC_symbol:HTRA1 ; biolink:category biolink:Gene . OMIM:602195 a owl:Class ; @@ -151490,13 +155855,14 @@ OMIM:602195 a owl:Class ; PMID:9628874 ; RO:0002525 CHR:9606chr7q11.23 ; RO:0003303 OMIM:608634 ; - oboInOwl:hasDbXref UMLS:C1333928 ; oboInOwl:hasExactSynonym "HSPB1", "heat-shock 27-kd protein 1", "heat-shock protein 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3315 ; - skos:exactMatch HGNC_symbol:HSPB1 ; + skos:exactMatch UMLS:C1333928, + HGNC:5246, + HGNC_symbol:HSPB1 ; biolink:category biolink:Gene . OMIM:602196 a owl:Class ; @@ -151508,38 +155874,39 @@ OMIM:602196 a owl:Class ; PMID:15726498, PMID:1897570, PMID:9415678 ; - oboInOwl:hasDbXref UMLS:C1865783 ; oboInOwl:hasExactSynonym "campomelic dysplasia, mild", "pierre robin sequence with pectus excavatum and rib and scapular anomalies", "skeletal dysplasia related to campomelic dysplasia" ; + skos:exactMatch UMLS:C1865783 ; biolink:category biolink:Disease . OMIM:602198 a owl:Class ; rdfs:label "CDK2AP1" ; IAO:0000142 PMID:7557027, PMID:9331572 ; - oboInOwl:hasDbXref UMLS:C1332732 ; oboInOwl:hasExactSynonym "CDK2AP1", "cdk2-associated protein 1", "deleted 1n oral cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8099 ; - skos:exactMatch HGNC_symbol:CDK2AP1 ; + skos:exactMatch UMLS:C1332732, + HGNC:14002, + HGNC_symbol:CDK2AP1 ; biolink:category biolink:Gene . OMIM:602199 a owl:Class ; rdfs:label "medium chain 3-ketoacyl-coa thiolase deficiency" ; IAO:0000142 PMID:9357925 ; - oboInOwl:hasDbXref UMLS:C1865781 ; oboInOwl:hasExactSynonym "mckat deficiency", "medium chain 3-ketoacyl-coa thiolase deficiency" ; + skos:exactMatch UMLS:C1865781 ; biolink:category biolink:Disease . OMIM:602200 a owl:Class ; rdfs:label "ventriculomegaly with defects of the radius and kidney" ; IAO:0000142 PMID:9415680 ; - oboInOwl:hasDbXref UMLS:C1865780 ; oboInOwl:hasExactSynonym "ventriculomegaly with defects of the radius and kidney" ; + skos:exactMatch UMLS:C1865780 ; biolink:category biolink:Disease . OMIM:602201 a owl:Class ; @@ -151552,12 +155919,13 @@ OMIM:602201 a owl:Class ; PMID:9367673 ; RO:0002525 CHR:9606chr1q21.2 ; RO:0003303 OMIM:247100 ; - oboInOwl:hasDbXref UMLS:C1414248 ; oboInOwl:hasExactSynonym "ECM1", "extracellular matrix protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1893 ; - skos:exactMatch HGNC_symbol:ECM1 ; + skos:exactMatch UMLS:C1414248, + HGNC:3153, + HGNC_symbol:ECM1 ; biolink:category biolink:Gene . OMIM:602202 a owl:Class ; @@ -151570,14 +155938,15 @@ OMIM:602202 a owl:Class ; PMID:9367678 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:614507 ; - oboInOwl:hasDbXref UMLS:C1413949 ; oboInOwl:hasExactSynonym "DDOST", "dolichyl-diphosphooligosaccharide-protein glycosyltransferase", "oligosaccharyltransferase", "oligosaccharyltransferase, 48-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1650 ; - skos:exactMatch HGNC_symbol:DDOST ; + skos:exactMatch UMLS:C1413949, + HGNC:2728, + HGNC_symbol:DDOST ; biolink:category biolink:Gene . OMIM:602203 a owl:Class ; @@ -151586,12 +155955,13 @@ OMIM:602203 a owl:Class ; PMID:23455422, PMID:23455424, PMID:9367679 ; - oboInOwl:hasDbXref UMLS:C1420247 ; oboInOwl:hasExactSynonym "SLN", "sarcolipin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6588 ; - skos:exactMatch HGNC_symbol:SLN ; + skos:exactMatch UMLS:C1420247, + HGNC:11089, + HGNC_symbol:SLN ; biolink:category biolink:Gene . OMIM:602204 a owl:Class ; @@ -151599,13 +155969,14 @@ OMIM:602204 a owl:Class ; IAO:0000142 PMID:11740552, PMID:8530100, PMID:9367685 ; - oboInOwl:hasDbXref UMLS:C1412796 ; oboInOwl:hasExactSynonym "BICD1", "bicaudal d, drosophila, homolog of, 1", "bicd cargo adaptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:636 ; - skos:exactMatch HGNC_symbol:BICD1 ; + skos:exactMatch UMLS:C1412796, + HGNC:1049, + HGNC_symbol:BICD1 ; biolink:category biolink:Gene . OMIM:602205 a owl:Class ; @@ -151616,12 +155987,13 @@ OMIM:602206 a owl:Class ; rdfs:label "RAB17" ; IAO:0000142 PMID:8486736, PMID:9367688 ; - oboInOwl:hasDbXref UMLS:C1424351 ; oboInOwl:hasExactSynonym "RAB17", "ras-associated protein rab17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64284 ; - skos:exactMatch HGNC_symbol:RAB17 ; + skos:exactMatch UMLS:C1424351, + HGNC:16523, + HGNC_symbol:RAB17 ; biolink:category biolink:Gene . OMIM:602207 a owl:Class ; @@ -151634,12 +156006,13 @@ OMIM:602207 a owl:Class ; PMID:9367688 ; RO:0002525 CHR:9606chr10p12.1 ; RO:0003303 OMIM:614222 ; - oboInOwl:hasDbXref UMLS:C1422505 ; oboInOwl:hasExactSynonym "RAB18", "ras-associated protein rab18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22931 ; - skos:exactMatch HGNC_symbol:RAB18 ; + skos:exactMatch UMLS:C1422505, + HGNC:14244, + HGNC_symbol:RAB18 ; biolink:category biolink:Gene . OMIM:602208 a owl:Class ; @@ -151662,13 +156035,14 @@ OMIM:602208 a owl:Class ; PMID:9367690 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:612780 ; - oboInOwl:hasDbXref UMLS:C1416577 ; oboInOwl:hasExactSynonym "KCNJ10", "glial inwardly rectifying potassium channel kir4.1", "potassium channel, inwardly rectifying, subfamily j, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3766 ; - skos:exactMatch HGNC_symbol:KCNJ10 ; + skos:exactMatch UMLS:C1416577, + HGNC:6256, + HGNC_symbol:KCNJ10 ; biolink:category biolink:Gene . OMIM:602209 a owl:Class ; @@ -151679,12 +156053,13 @@ OMIM:602209 a owl:Class ; PMID:7743500, PMID:8816445, PMID:9367691 ; - oboInOwl:hasDbXref UMLS:C1419758 ; oboInOwl:hasExactSynonym "RREB1", "ras-responsive element binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6239 ; - skos:exactMatch HGNC_symbol:RREB1 ; + skos:exactMatch UMLS:C1419758, + HGNC:10449, + HGNC_symbol:RREB1 ; biolink:category biolink:Gene . OMIM:602210 a owl:Class ; @@ -151692,7 +156067,6 @@ OMIM:602210 a owl:Class ; IAO:0000142 PMID:12553909, PMID:9295280, PMID:9403073 ; - oboInOwl:hasDbXref UMLS:C0812224 ; oboInOwl:hasExactSynonym "EIF3E", "eukaryotic translation initiation factor 3, 48-kd", "eukaryotic translation initiation factor 3, subunit 6, formerly", @@ -151701,20 +156075,23 @@ OMIM:602210 a owl:Class ; "oncogene int6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3646 ; - skos:exactMatch HGNC_symbol:EIF3E ; + skos:exactMatch UMLS:C0812224, + HGNC:3277, + HGNC_symbol:EIF3E ; biolink:category biolink:Gene . OMIM:602211 a owl:Class ; rdfs:label "FOXD2" ; IAO:0000142 PMID:9403061 ; - oboInOwl:hasDbXref UMLS:C1414671 ; oboInOwl:hasExactSynonym "FOXD2", "forkhead box d2", "forkhead, drosophila, homolog-like 17", "forkhead-related activator 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2306 ; - skos:exactMatch HGNC_symbol:FOXD2 ; + skos:exactMatch UMLS:C1414671, + HGNC:3803, + HGNC_symbol:FOXD2 ; biolink:category biolink:Gene . OMIM:602212 a owl:Class ; @@ -151735,37 +156112,40 @@ OMIM:602212 a owl:Class ; PMID:9403064 ; RO:0002525 CHR:9606chr16q12.1 ; RO:0003303 OMIM:619314 ; - oboInOwl:hasDbXref UMLS:C1420045 ; oboInOwl:hasExactSynonym "SIAH1", "seven 1n absentia, drosophila, homolog of, 1", "siah e3 ubiquitin protein ligase family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6477 ; - skos:exactMatch HGNC_symbol:SIAH1 ; + skos:exactMatch UMLS:C1420045, + HGNC:10857, + HGNC_symbol:SIAH1 ; biolink:category biolink:Gene . OMIM:602213 a owl:Class ; rdfs:label "SIAH2" ; IAO:0000142 PMID:15210114, PMID:9403064 ; - oboInOwl:hasDbXref UMLS:C1420046 ; oboInOwl:hasExactSynonym "SIAH2", "seven 1n absentia, drosophila, homolog of, 2", "siah e3 ubiquitin protein ligase family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6478 ; - skos:exactMatch HGNC_symbol:SIAH2 ; + skos:exactMatch UMLS:C1420046, + HGNC:10858, + HGNC_symbol:SIAH2 ; biolink:category biolink:Gene . OMIM:602214 a owl:Class ; rdfs:label "CSNK1G2" ; IAO:0000142 PMID:9403068 ; - oboInOwl:hasDbXref UMLS:C1413758 ; oboInOwl:hasExactSynonym "CSNK1G2", "casein kinase i, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1455 ; - skos:exactMatch HGNC_symbol:CSNK1G2 ; + skos:exactMatch UMLS:C1413758, + HGNC:2455, + HGNC_symbol:CSNK1G2 ; biolink:category biolink:Gene . OMIM:602215 a owl:Class ; @@ -151783,7 +156163,6 @@ OMIM:602215 a owl:Class ; PMID:9441752, PMID:9727055, PMID:9831658 ; - oboInOwl:hasDbXref UMLS:C1413978 ; oboInOwl:hasExactSynonym "DEFB4A", "defensin, beta, 2, formerly", "defensin, beta, 4, formerly", @@ -151791,7 +156170,9 @@ OMIM:602215 a owl:Class ; "hbd2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1673 ; - skos:exactMatch HGNC_symbol:DEFB4A ; + skos:exactMatch UMLS:C1413978, + HGNC:2767, + HGNC_symbol:DEFB4A ; biolink:category biolink:Gene . OMIM:602216 a owl:Class ; @@ -151853,18 +156234,19 @@ OMIM:602216 a owl:Class ; PMID:9887330 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:273300 ; - oboInOwl:hasDbXref UMLS:C0031269, - UMLS:C0694883, - UMLS:C3836561, - UMLS:C4015968, - UMLS:C4016283, - UMLS:C4016776 ; oboInOwl:hasExactSynonym "STK11", "lkb1", "serine/threonine protein kinase 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6794 ; - skos:exactMatch HGNC_symbol:STK11 ; + skos:exactMatch UMLS:C0031269, + UMLS:C0694883, + UMLS:C3836561, + UMLS:C4015968, + UMLS:C4016283, + UMLS:C4016776, + HGNC:11389, + HGNC_symbol:STK11 ; biolink:category biolink:Gene . OMIM:602217 a owl:Class ; @@ -151876,7 +156258,6 @@ OMIM:602217 a owl:Class ; PMID:12086619, PMID:9391086, PMID:9511750 ; - oboInOwl:hasDbXref UMLS:C1419895 ; oboInOwl:hasExactSynonym "SDCBP", "melanoma differentiation-associated gene 9", "pro-tgf-alpha cytoplasmic domain-interacting protein 18", @@ -151884,7 +156265,9 @@ OMIM:602217 a owl:Class ; "syntenin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6386 ; - skos:exactMatch HGNC_symbol:SDCBP ; + skos:exactMatch UMLS:C1419895, + HGNC:10662, + HGNC_symbol:SDCBP ; biolink:category biolink:Gene . OMIM:602218 a owl:Class ; @@ -151913,13 +156296,14 @@ OMIM:602218 a owl:Class ; PMID:9973281 ; RO:0002525 CHR:9606chr16q12.1 ; RO:0003303 OMIM:107480 ; - oboInOwl:hasDbXref UMLS:C1419808 ; oboInOwl:hasExactSynonym "SALL1", "hsal1", "sal-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6299 ; - skos:exactMatch HGNC_symbol:SALL1 ; + skos:exactMatch UMLS:C1419808, + HGNC:10524, + HGNC_symbol:SALL1 ; biolink:category biolink:Gene . OMIM:602219 a owl:Class ; @@ -151929,25 +156313,27 @@ OMIM:602219 a owl:Class ; PMID:8975705 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:216820 ; - oboInOwl:hasDbXref UMLS:C1419810 ; oboInOwl:hasExactSynonym "SALL2", "hsal2", "sal-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6297 ; - skos:exactMatch HGNC_symbol:SALL2 ; + skos:exactMatch UMLS:C1419810, + HGNC:10526, + HGNC_symbol:SALL2 ; biolink:category biolink:Gene . OMIM:602220 a owl:Class ; rdfs:label "RASL10A" ; IAO:0000142 PMID:8975699 ; - oboInOwl:hasDbXref UMLS:C1335650 ; oboInOwl:hasExactSynonym "RASL10A", "ras-like, family 10, member a", "ras-related on chromosome 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10633 ; - skos:exactMatch HGNC_symbol:RASL10A ; + skos:exactMatch UMLS:C1335650, + HGNC:16954, + HGNC_symbol:RASL10A ; biolink:category biolink:Gene . OMIM:602222 a owl:Class ; @@ -151964,13 +156350,14 @@ OMIM:602223 a owl:Class ; PMID:7935836, PMID:8957083, PMID:8975712 ; - oboInOwl:hasDbXref UMLS:C1414352 ; oboInOwl:hasExactSynonym "4ebp1", "EIF4EBP1", "eukaryotic translation initiation factor 4e-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1978 ; - skos:exactMatch HGNC_symbol:EIF4EBP1 ; + skos:exactMatch UMLS:C1414352, + HGNC:3288, + HGNC_symbol:EIF4EBP1 ; biolink:category biolink:Gene . OMIM:602224 a owl:Class ; @@ -151980,13 +156367,14 @@ OMIM:602224 a owl:Class ; PMID:23172145, PMID:7935836, PMID:8975712 ; - oboInOwl:hasDbXref UMLS:C1414353 ; oboInOwl:hasExactSynonym "4ebp2", "EIF4EBP2", "eukaryotic translation initiation factor 4e-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1979 ; - skos:exactMatch HGNC_symbol:EIF4EBP2 ; + skos:exactMatch UMLS:C1414353, + HGNC:3289, + HGNC_symbol:EIF4EBP2 ; biolink:category biolink:Gene . OMIM:602225 a owl:Class ; @@ -152011,26 +156399,28 @@ OMIM:602225 a owl:Class ; PMID:9931337 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:613829 ; - oboInOwl:hasDbXref UMLS:C1413723 ; oboInOwl:hasExactSynonym "CRX", "cone-rod homeobox-containing gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1406 ; - skos:exactMatch HGNC_symbol:CRX ; + skos:exactMatch UMLS:C1413723, + HGNC:2383, + HGNC_symbol:CRX ; biolink:category biolink:Gene . OMIM:602226 a owl:Class ; rdfs:label "CD180" ; IAO:0000142 PMID:8975706, PMID:9763566 ; - oboInOwl:hasDbXref UMLS:C1824676 ; oboInOwl:hasExactSynonym "CD180", "cd180 antigen", "lymphocyte antigen 64, radioprotective, 105-kd", "rp105, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4064 ; - skos:exactMatch HGNC_symbol:CD180 ; + skos:exactMatch UMLS:C1824676, + HGNC:6726, + HGNC_symbol:CD180 ; biolink:category biolink:Gene . OMIM:602227 a owl:Class ; @@ -152042,7 +156432,6 @@ OMIM:602227 a owl:Class ; PMID:20002784, PMID:9013939, PMID:9153236 ; - oboInOwl:hasDbXref UMLS:C1332682 ; oboInOwl:hasExactSynonym "CCL19", "chemokine, cc motif, ligand 19", "ebi1-ligand chemokine", @@ -152051,7 +156440,9 @@ OMIM:602227 a owl:Class ; "small inducible cytokine subfamily a, member 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6363 ; - skos:exactMatch HGNC_symbol:CCL19 ; + skos:exactMatch UMLS:C1332682, + HGNC:10617, + HGNC_symbol:CCL19 ; biolink:category biolink:Gene . OMIM:602228 a owl:Class ; @@ -152100,26 +156491,28 @@ OMIM:602228 a owl:Class ; PMID:9697701 ; RO:0002525 CHR:9606chr10q25.2-q25.3 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1420644, - UMLS:C3837967 ; oboInOwl:hasExactSynonym "TCF7L2", "t-cell transcription factor 4, formerly", "tcf7l2/vti1a fusion gene", "transcription factor 7-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6934 ; - skos:exactMatch HGNC_symbol:TCF7L2 ; + skos:exactMatch UMLS:C1420644, + UMLS:C3837967, + HGNC:11641, + HGNC_symbol:TCF7L2 ; biolink:category biolink:Gene . OMIM:602230 a owl:Class ; rdfs:label "SH3BGR" ; IAO:0000142 PMID:9050928 ; - oboInOwl:hasDbXref UMLS:C1420019 ; oboInOwl:hasExactSynonym "SH3BGR", "sh3 domain-binding glutamic acid-rich protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6450 ; - skos:exactMatch HGNC_symbol:SH3BGR ; + skos:exactMatch UMLS:C1420019, + HGNC:10822, + HGNC_symbol:SH3BGR ; biolink:category biolink:Gene . OMIM:602231 a owl:Class ; @@ -152127,14 +156520,15 @@ OMIM:602231 a owl:Class ; IAO:0000142 PMID:12383504, PMID:7579695, PMID:9119407 ; - oboInOwl:hasDbXref UMLS:C1539896 ; oboInOwl:hasExactSynonym "SUMO3", "small ubiquitin-like modifier 3", "smt3, yeast, homolog 1", "smt3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6612 ; - skos:exactMatch HGNC_symbol:SUMO3 ; + skos:exactMatch UMLS:C1539896, + HGNC:11124, + HGNC_symbol:SUMO3 ; biolink:category biolink:Gene . OMIM:602232 a owl:Class ; @@ -152151,13 +156545,14 @@ OMIM:602232 a owl:Class ; PMID:9836639 ; RO:0002525 CHR:9606chr8q24.22 ; RO:0003303 OMIM:121201 ; - oboInOwl:hasDbXref UMLS:C1416615 ; oboInOwl:hasExactSynonym "KCNQ3", "potassium channel, voltage-gated, kqt-like subfamily, member 3", "potassium channel, voltage-gated, subfamily q, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3786 ; - skos:exactMatch HGNC_symbol:KCNQ3 ; + skos:exactMatch UMLS:C1416615, + HGNC:6297, + HGNC_symbol:KCNQ3 ; biolink:category biolink:Gene . OMIM:602233 a owl:Class ; @@ -152179,12 +156574,13 @@ OMIM:602233 a owl:Class ; PMID:9651578, PMID:9753320, PMID:9753321 ; - oboInOwl:hasDbXref UMLS:C1332098 ; oboInOwl:hasExactSynonym "APAF1", "apoptotic protease activating factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:317 ; - skos:exactMatch HGNC_symbol:APAF1 ; + skos:exactMatch UMLS:C1332098, + HGNC:576, + HGNC_symbol:APAF1 ; biolink:category biolink:Gene . OMIM:602234 a owl:Class ; @@ -152200,13 +156596,14 @@ OMIM:602234 a owl:Class ; PMID:9651578, PMID:9708735, PMID:9708736 ; - oboInOwl:hasDbXref UMLS:C1332668 ; oboInOwl:hasExactSynonym "CASP9", "apoptotic protease activating factor 3", "caspase 9, apoptosis-related cysteine protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:842 ; - skos:exactMatch HGNC_symbol:CASP9 ; + skos:exactMatch UMLS:C1332668, + HGNC:1511, + HGNC_symbol:CASP9 ; biolink:category biolink:Gene . OMIM:602235 a owl:Class ; @@ -152233,16 +156630,17 @@ OMIM:602235 a owl:Class ; PMID:9836639 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:121200 ; - oboInOwl:hasDbXref UMLS:C1416614, - UMLS:C3149074, - UMLS:C3149075, - UMLS:C3150986 ; oboInOwl:hasExactSynonym "KCNQ2", "potassium channel, voltage-gated, kqt-like subfamily, member 2", "potassium channel, voltage-gated, subfamily q, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3785 ; - skos:exactMatch HGNC_symbol:KCNQ2 ; + skos:exactMatch UMLS:C1416614, + UMLS:C3149074, + UMLS:C3149075, + UMLS:C3150986, + HGNC:6296, + HGNC_symbol:KCNQ2 ; biolink:category biolink:Gene . OMIM:602236 a owl:Class ; @@ -152261,13 +156659,14 @@ OMIM:602238 a owl:Class ; PMID:9390555 ; RO:0002525 CHR:9606chr9q34.12 ; RO:0003303 OMIM:617763 ; - oboInOwl:hasDbXref UMLS:C1424742 ; oboInOwl:hasExactSynonym "EXOSC2", "exosome component 2", "ribosomal rna-processing protein 4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23404 ; - skos:exactMatch HGNC_symbol:EXOSC2 ; + skos:exactMatch UMLS:C1424742, + HGNC:17097, + HGNC_symbol:EXOSC2 ; biolink:category biolink:Gene . OMIM:602239 a owl:Class ; @@ -152277,25 +156676,27 @@ OMIM:602239 a owl:Class ; PMID:19416885, PMID:9228017, PMID:9521883 ; - oboInOwl:hasDbXref UMLS:C1413863 ; oboInOwl:hasExactSynonym "CYP26A1", "cytochrome p450, subfamily xxvia, polypeptide 1", "p450, retinoic acid-inactivating, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1592 ; - skos:exactMatch HGNC_symbol:CYP26A1 ; + skos:exactMatch UMLS:C1413863, + HGNC:2603, + HGNC_symbol:CYP26A1 ; biolink:category biolink:Gene . OMIM:602240 a owl:Class ; rdfs:label "ZNF192" ; IAO:0000142 PMID:8673473, PMID:9244436 ; - oboInOwl:hasDbXref UMLS:C1421680 ; oboInOwl:hasExactSynonym "ZNF192", "zinc finger protein 192" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7745 ; - skos:exactMatch HGNC_symbol:ZKSCAN8 ; + skos:exactMatch UMLS:C1421680, + HGNC:12983, + HGNC_symbol:ZKSCAN8 ; biolink:category biolink:Gene . OMIM:602241 a owl:Class ; @@ -152308,12 +156709,13 @@ OMIM:602241 a owl:Class ; PMID:9073519 ; RO:0002525 CHR:9606chr13q12.12 ; RO:0003303 OMIM:617228 ; - oboInOwl:hasDbXref UMLS:C1417171 ; oboInOwl:hasExactSynonym "MIPEP", "mitochondrial intermediate peptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4285 ; - skos:exactMatch HGNC_symbol:MIPEP ; + skos:exactMatch UMLS:C1417171, + HGNC:7104, + HGNC_symbol:MIPEP ; biolink:category biolink:Gene . OMIM:602242 a owl:Class ; @@ -152326,7 +156728,6 @@ OMIM:602242 a owl:Class ; PMID:9767099 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:600740 ; - oboInOwl:hasDbXref UMLS:C1412445 ; oboInOwl:hasExactSynonym "AP2S1", "adaptor-related protein complex 2, sigma-1 subunit", "clathrin adaptor complex ap2, sigma subunit", @@ -152334,7 +156735,9 @@ OMIM:602242 a owl:Class ; "clathrin-associated/assembly/adaptor protein, small 2, 17-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1175 ; - skos:exactMatch HGNC_symbol:AP2S1 ; + skos:exactMatch UMLS:C1412445, + HGNC:565, + HGNC_symbol:AP2S1 ; biolink:category biolink:Gene . OMIM:602243 a owl:Class ; @@ -152353,7 +156756,6 @@ OMIM:602243 a owl:Class ; PMID:9070943 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:179620 ; - oboInOwl:hasDbXref UMLS:C1413203 ; oboInOwl:hasExactSynonym "CD151", "cd151 antigen", "platelet-endothelial cell tetraspanin antigen 3", @@ -152361,7 +156763,9 @@ OMIM:602243 a owl:Class ; "sfa1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:977 ; - skos:exactMatch HGNC_symbol:CD151 ; + skos:exactMatch UMLS:C1413203, + HGNC:1630, + HGNC_symbol:CD151 ; biolink:category biolink:Gene . OMIM:602244 a owl:Class ; @@ -152371,43 +156775,46 @@ OMIM:602244 a owl:Class ; PMID:9205125 ; RO:0002525 CHR:9606chr3p14.3 ; RO:0003303 OMIM:614420 ; - oboInOwl:hasDbXref UMLS:C1414110 ; oboInOwl:hasExactSynonym "DNASE1L3", "deoxyribonuclease i-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1776 ; - skos:exactMatch HGNC_symbol:DNASE1L3 ; + skos:exactMatch UMLS:C1414110, + HGNC:2959, + HGNC_symbol:DNASE1L3 ; biolink:category biolink:Gene . OMIM:602245 a owl:Class ; rdfs:label "GTPBP1" ; IAO:0000142 PMID:10833435, PMID:9070279 ; - oboInOwl:hasDbXref UMLS:C1415351 ; oboInOwl:hasExactSynonym "GTPBP1", "gp1", "gtp-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9567 ; - skos:exactMatch HGNC_symbol:GTPBP1 ; + skos:exactMatch UMLS:C1415351, + HGNC:4669, + HGNC_symbol:GTPBP1 ; biolink:category biolink:Gene . OMIM:602246 a owl:Class ; rdfs:label "ZNF193" ; IAO:0000142 PMID:9244436 ; - oboInOwl:hasDbXref UMLS:C1421681 ; oboInOwl:hasExactSynonym "ZNF193", "zinc finger protein 193" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7746 ; - skos:exactMatch HGNC_symbol:ZSCAN9 ; + skos:exactMatch UMLS:C1421681, + HGNC:12984, + HGNC_symbol:ZSCAN9 ; biolink:category biolink:Gene . OMIM:602247 a owl:Class ; rdfs:label "xanthomatosis, susceptibility to" ; IAO:0000142 PMID:9412789 ; - oboInOwl:hasDbXref UMLS:C1865704 ; oboInOwl:hasExactSynonym "xanthomatosis, susceptibility to" ; + skos:exactMatch UMLS:C1865704 ; biolink:category biolink:Disease . OMIM:602248 a owl:Class ; @@ -152418,17 +156825,17 @@ OMIM:602248 a owl:Class ; PMID:6487548, PMID:6733962, PMID:9308565 ; - oboInOwl:hasDbXref UMLS:C0221011 ; oboInOwl:hasExactSynonym "Degos disease", "malignant atrophic papulosis", "papulosis, malignant atrophic" ; + skos:exactMatch UMLS:C0221011 ; biolink:category biolink:Disease . OMIM:602249 a owl:Class ; rdfs:label "progeroid facial appearance with hand anomalies" ; IAO:0000142 PMID:9409877 ; - oboInOwl:hasDbXref UMLS:C1865699 ; - oboInOwl:hasExactSynonym "progeroid facial appearance with hand anomalies" . + oboInOwl:hasExactSynonym "progeroid facial appearance with hand anomalies" ; + skos:exactMatch UMLS:C1865699 . OMIM:602250 a owl:Class ; rdfs:label "TNFRSF9" ; @@ -152444,7 +156851,6 @@ OMIM:602250 a owl:Class ; PMID:8639902, PMID:9045669, PMID:9207223 ; - oboInOwl:hasDbXref UMLS:C1420813 ; oboInOwl:hasExactSynonym "4-1bb, mouse, homolog of", "TNFRSF9", "cd137", @@ -152453,7 +156859,9 @@ OMIM:602250 a owl:Class ; "tumor necrosis factor receptor superfamily, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3604 ; - skos:exactMatch HGNC_symbol:TNFRSF9 ; + skos:exactMatch UMLS:C1420813, + HGNC:11924, + HGNC_symbol:TNFRSF9 ; biolink:category biolink:Gene . OMIM:602251 a owl:Class ; @@ -152462,21 +156870,22 @@ OMIM:602251 a owl:Class ; PMID:3023860, PMID:9242927, PMID:9430585 ; - oboInOwl:hasDbXref UMLS:C1420738 ; oboInOwl:hasExactSynonym "TIMM10", "tim10", "tim10, yeast, homolog of, a", "translocase of inner mitochondrial membrane 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26519 ; - skos:exactMatch HGNC_symbol:TIMM10 ; + skos:exactMatch UMLS:C1420738, + HGNC:11814, + HGNC_symbol:TIMM10 ; biolink:category biolink:Gene . OMIM:602252 a owl:Class ; rdfs:label "mitochondrial intermembrane space protein tim12, yeast, homolog of" ; IAO:0000142 PMID:9430585 ; - oboInOwl:hasDbXref UMLS:C1865698 ; - oboInOwl:hasExactSynonym "mitochondrial intermembrane space protein tim12, yeast, homolog of" . + oboInOwl:hasExactSynonym "mitochondrial intermembrane space protein tim12, yeast, homolog of" ; + skos:exactMatch UMLS:C1865698 . OMIM:602253 a owl:Class ; rdfs:label "KLF4" ; @@ -152501,27 +156910,29 @@ OMIM:602253 a owl:Class ; PMID:8702718, PMID:8940147, PMID:9422764 ; - oboInOwl:hasDbXref UMLS:C1416660 ; oboInOwl:hasExactSynonym "KLF4", "endothelial kruppel-like zinc finger protein", "gut-enriched kruppel-like factor", "kruppel-like factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9314 ; - skos:exactMatch HGNC_symbol:KLF4 ; + skos:exactMatch UMLS:C1416660, + HGNC:6348, + HGNC_symbol:KLF4 ; biolink:category biolink:Gene . OMIM:602254 a owl:Class ; rdfs:label "SRRD" ; IAO:0000142 PMID:8806657 ; - oboInOwl:hasDbXref UMLS:C1865697 ; oboInOwl:hasExactSynonym "SRRD", "hc/hcc", "hepatocellular carcinoma complicating hemochromatosis", "srr1 domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402055 ; - skos:exactMatch HGNC_symbol:SRRD ; + skos:exactMatch UMLS:C1865697, + HGNC:33910, + HGNC_symbol:SRRD ; biolink:category biolink:Gene . OMIM:602255 a owl:Class ; @@ -152529,26 +156940,28 @@ OMIM:602255 a owl:Class ; IAO:0000142 PMID:21111240, PMID:8887545, PMID:9160885 ; - oboInOwl:hasDbXref UMLS:C1420477 ; oboInOwl:hasExactSynonym "STK25", "serine/threonine protein kinase 25", "sterile 20/oxidant stress-response kinase 1", "yeast sps1/ste20-related kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10494 ; - skos:exactMatch HGNC_symbol:STK25 ; + skos:exactMatch UMLS:C1420477, + HGNC:11404, + HGNC_symbol:STK25 ; biolink:category biolink:Gene . OMIM:602256 a owl:Class ; rdfs:label "PPEF2" ; IAO:0000142 PMID:11713293, PMID:9326663 ; - oboInOwl:hasDbXref UMLS:C1418784 ; oboInOwl:hasExactSynonym "PPEF2", "protein phosphatase, ef-hand calcium-binding domain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5470 ; - skos:exactMatch HGNC_symbol:PPEF2 ; + skos:exactMatch UMLS:C1418784, + HGNC:9244, + HGNC_symbol:PPEF2 ; biolink:category biolink:Gene . OMIM:602257 a owl:Class ; @@ -152569,14 +156982,15 @@ OMIM:602257 a owl:Class ; PMID:7539776 ; RO:0002525 CHR:9606chr4q21.1 ; RO:0003303 OMIM:254900 ; - oboInOwl:hasDbXref UMLS:C1413219 ; oboInOwl:hasExactSynonym "SCARB2", "cd36 antigen-like 2", "lysosomal integral membrane protein 2", "scavenger receptor class b, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:950 ; - skos:exactMatch HGNC_symbol:SCARB2 ; + skos:exactMatch UMLS:C1413219, + HGNC:1665, + HGNC_symbol:SCARB2 ; biolink:category biolink:Gene . OMIM:602258 a owl:Class ; @@ -152588,14 +157002,15 @@ OMIM:602259 a owl:Class ; IAO:0000142 PMID:8724848, PMID:8947847, PMID:9254009 ; - oboInOwl:hasDbXref UMLS:C1421214 ; oboInOwl:hasExactSynonym "TTC3", "dcrr1", "tetratricopeptide repeat domain 1n the down syndrome region", "tetratricopeptide repeat domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7267 ; - skos:exactMatch HGNC_symbol:TTC3 ; + skos:exactMatch UMLS:C1421214, + HGNC:12393, + HGNC_symbol:TTC3 ; biolink:category biolink:Gene . OMIM:602260 a owl:Class ; @@ -152640,8 +157055,6 @@ OMIM:602260 a owl:Class ; PMID:9428527, PMID:9616112, PMID:9616122 ; - oboInOwl:hasDbXref UMLS:C1418464, - UMLS:C1865696 ; oboInOwl:hasExactSynonym "PER1", "per", "per1/etv6 fusion gene", @@ -152650,7 +157063,10 @@ OMIM:602260 a owl:Class ; "rigui" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5187 ; - skos:exactMatch HGNC_symbol:PER1 ; + skos:exactMatch UMLS:C1418464, + UMLS:C1865696, + HGNC:8845, + HGNC_symbol:PER1 ; biolink:category biolink:Gene . OMIM:602261 a owl:Class ; @@ -152659,14 +157075,15 @@ OMIM:602261 a owl:Class ; PMID:7649159, PMID:9070935, PMID:9119382 ; - oboInOwl:hasDbXref UMLS:C1417204 ; oboInOwl:hasExactSynonym "MMP15", "matrix metalloproteinase 15", "matrix metalloproteinase 15, membrane-type", "membrane-type matrix metalloproteinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4324 ; - skos:exactMatch HGNC_symbol:MMP15 ; + skos:exactMatch UMLS:C1417204, + HGNC:7161, + HGNC_symbol:MMP15 ; biolink:category biolink:Gene . OMIM:602262 a owl:Class ; @@ -152674,14 +157091,15 @@ OMIM:602262 a owl:Class ; IAO:0000142 PMID:7559440, PMID:9070935, PMID:9119382 ; - oboInOwl:hasDbXref UMLS:C1417205 ; oboInOwl:hasExactSynonym "MMP16", "matrix metalloproteinase 16", "matrix metalloproteinase 16, membrane-type", "membrane-type matrix metalloproteinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4325 ; - skos:exactMatch HGNC_symbol:MMP16 ; + skos:exactMatch UMLS:C1417205, + HGNC:7162, + HGNC_symbol:MMP16 ; biolink:category biolink:Gene . OMIM:602263 a owl:Class ; @@ -152697,14 +157115,15 @@ OMIM:602264 a owl:Class ; PMID:8389704, PMID:8626787, PMID:9545645 ; - oboInOwl:hasDbXref UMLS:C1420365 ; oboInOwl:hasExactSynonym "SPOCK1", "sparc/osteonectin, cwcv, and kazal-like domains proteoglycan", "spock", "testican" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6695 ; - skos:exactMatch HGNC_symbol:SPOCK1 ; + skos:exactMatch UMLS:C1420365, + HGNC:11251, + HGNC_symbol:SPOCK1 ; biolink:category biolink:Gene . OMIM:602265 a owl:Class ; @@ -152716,7 +157135,6 @@ OMIM:602265 a owl:Class ; PMID:8879209, PMID:9020138, PMID:9584194 ; - oboInOwl:hasDbXref UMLS:C1417664 ; oboInOwl:hasExactSynonym "NEDD9", "cas scaffold protein family, member 2", "crk-associated substrate-related protein", @@ -152724,7 +157142,9 @@ OMIM:602265 a owl:Class ; "neural precursor cell expressed, developmentally downregulated 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4739 ; - skos:exactMatch HGNC_symbol:NEDD9 ; + skos:exactMatch UMLS:C1417664, + HGNC:7733, + HGNC_symbol:NEDD9 ; biolink:category biolink:Gene . OMIM:602266 a owl:Class ; @@ -152737,26 +157157,28 @@ OMIM:602267 a owl:Class ; PMID:1982220, PMID:20453887, PMID:9126482 ; - oboInOwl:hasDbXref UMLS:C1412206 ; oboInOwl:hasExactSynonym "ADAM8", "a disintegrin and metalloproteinase domain 8", "human leukocyte differentiation antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101 ; - skos:exactMatch HGNC_symbol:ADAM8 ; + skos:exactMatch UMLS:C1412206, + HGNC:215, + HGNC_symbol:ADAM8 ; biolink:category biolink:Gene . OMIM:602268 a owl:Class ; rdfs:label "AOC2" ; IAO:0000142 PMID:9119395, PMID:9722954 ; - oboInOwl:hasDbXref UMLS:C1412430 ; oboInOwl:hasExactSynonym "AOC2", "amine oxidase, copper-containing, 2", "retina-specific amine oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:314 ; - skos:exactMatch HGNC_symbol:AOC2 ; + skos:exactMatch UMLS:C1412430, + HGNC:549, + HGNC_symbol:AOC2 ; biolink:category biolink:Gene . OMIM:602269 a owl:Class ; @@ -152764,13 +157186,14 @@ OMIM:602269 a owl:Class ; IAO:0000142 PMID:19617637, PMID:9126485, PMID:9721216 ; - oboInOwl:hasDbXref UMLS:C1412567 ; oboInOwl:hasExactSynonym "ARVCF", "armadillo repeat gene deleted 1n vcfs", "arvcf delta catenin family member" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:421 ; - skos:exactMatch HGNC_symbol:ARVCF ; + skos:exactMatch UMLS:C1412567, + HGNC:728, + HGNC_symbol:ARVCF ; biolink:category biolink:Gene . OMIM:602270 a owl:Class ; @@ -152781,13 +157204,14 @@ OMIM:602270 a owl:Class ; PMID:18685091, PMID:19965379, PMID:9083055 ; - oboInOwl:hasDbXref UMLS:C1412627 ; oboInOwl:hasExactSynonym "ATOX1", "antioxidant protein 1", "atx, yeast, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:475 ; - skos:exactMatch HGNC_symbol:ATOX1 ; + skos:exactMatch UMLS:C1412627, + HGNC:798, + HGNC_symbol:ATOX1 ; biolink:category biolink:Gene . OMIM:602272 a owl:Class ; @@ -152820,7 +157244,6 @@ OMIM:602272 a owl:Class ; PMID:9302263 ; RO:0002525 CHR:9606chr18q21.2 ; RO:0003303 OMIM:610954 ; - oboInOwl:hasDbXref UMLS:C1420639 ; oboInOwl:hasExactSynonym "TCF4", "e2-2", "immunoglobulin transcription factor 2", @@ -152829,7 +157252,9 @@ OMIM:602272 a owl:Class ; "transcription factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6925 ; - skos:exactMatch HGNC_symbol:TCF4 ; + skos:exactMatch UMLS:C1420639, + HGNC:11634, + HGNC_symbol:TCF4 ; biolink:category biolink:Gene . OMIM:602273 a owl:Class ; @@ -152838,13 +157263,14 @@ OMIM:602273 a owl:Class ; PMID:7592619, PMID:9050910, PMID:9592121 ; - oboInOwl:hasDbXref UMLS:C1414951 ; oboInOwl:hasExactSynonym "GALNT1", "galnac transferase 1", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2589 ; - skos:exactMatch HGNC_symbol:GALNT1 ; + skos:exactMatch UMLS:C1414951, + HGNC:4123, + HGNC_symbol:GALNT1 ; biolink:category biolink:Gene . OMIM:602274 a owl:Class ; @@ -152857,14 +157283,15 @@ OMIM:602274 a owl:Class ; PMID:9592121 ; RO:0002525 CHR:9606chr1q42.13 ; RO:0003303 OMIM:618885 ; - oboInOwl:hasDbXref UMLS:C1414952, - UMLS:C5394387 ; oboInOwl:hasExactSynonym "GALNT2", "galnac transferase 2", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2590 ; - skos:exactMatch HGNC_symbol:GALNT2 ; + skos:exactMatch UMLS:C1414952, + UMLS:C5394387, + HGNC:4124, + HGNC_symbol:GALNT2 ; biolink:category biolink:Gene . OMIM:602275 a owl:Class ; @@ -152875,14 +157302,15 @@ OMIM:602275 a owl:Class ; PMID:9119368 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:613827 ; - oboInOwl:hasDbXref UMLS:C1415355 ; oboInOwl:hasExactSynonym "GUCA1B", "guanylate cyclase activator 1b", "guanylate cyclase-activating protein, photoreceptor 2", "guanylin 2, retina" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2979 ; - skos:exactMatch HGNC_symbol:GUCA1B ; + skos:exactMatch UMLS:C1415355, + HGNC:4679, + HGNC_symbol:GUCA1B ; biolink:category biolink:Gene . OMIM:602276 a owl:Class ; @@ -152893,7 +157321,6 @@ OMIM:602276 a owl:Class ; PMID:9073520, PMID:9674419, PMID:9674425 ; - oboInOwl:hasDbXref UMLS:C1420568 ; oboInOwl:hasExactSynonym "TADA2A", "ada2, yeast, homolog of, alpha", "ada2-alpha", @@ -152901,18 +157328,21 @@ OMIM:602276 a owl:Class ; "transcriptional adaptor 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6871 ; - skos:exactMatch HGNC_symbol:TADA2A ; + skos:exactMatch UMLS:C1420568, + HGNC:11531, + HGNC_symbol:TADA2A ; biolink:category biolink:Gene . OMIM:602277 a owl:Class ; rdfs:label "ZNF184" ; IAO:0000142 PMID:9073517 ; - oboInOwl:hasDbXref UMLS:C1421674 ; oboInOwl:hasExactSynonym "ZNF184", "zinc finger protein 184" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7738 ; - skos:exactMatch HGNC_symbol:ZNF184 ; + skos:exactMatch UMLS:C1421674, + HGNC:12975, + HGNC_symbol:ZNF184 ; biolink:category biolink:Gene . OMIM:602278 a owl:Class ; @@ -152931,13 +157361,14 @@ OMIM:602278 a owl:Class ; PMID:7788527, PMID:8649367, PMID:9073511 ; - oboInOwl:hasDbXref UMLS:C1417659 ; oboInOwl:hasExactSynonym "NEDD4", "kiaa0093", "neural precursor cell expressed, developmentally downregulated 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4734 ; - skos:exactMatch HGNC_symbol:NEDD4 ; + skos:exactMatch UMLS:C1417659, + HGNC:7727, + HGNC_symbol:NEDD4 ; biolink:category biolink:Gene . OMIM:602279 a owl:Class ; @@ -152959,14 +157390,15 @@ OMIM:602279 a owl:Class ; PMID:9887340 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:164300 ; - oboInOwl:hasDbXref UMLS:C1418237 ; oboInOwl:hasExactSynonym "PABPN1", "poly(a)-binding protein 2", "polyadenylate-binding protein 2", "polyadenylate-binding protein, nuclear, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8106 ; - skos:exactMatch HGNC_symbol:PABPN1 ; + skos:exactMatch UMLS:C1418237, + HGNC:8565, + HGNC_symbol:PABPN1 ; biolink:category biolink:Gene . OMIM:602280 a owl:Class ; @@ -152985,13 +157417,14 @@ OMIM:602280 a owl:Class ; PMID:9462751 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:600132 ; - oboInOwl:hasDbXref UMLS:C1421241 ; oboInOwl:hasExactSynonym "TULP1", "tub-like protein 1", "tubby-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7287 ; - skos:exactMatch HGNC_symbol:TULP1 ; + skos:exactMatch UMLS:C1421241, + HGNC:12423, + HGNC_symbol:TULP1 ; biolink:category biolink:Gene . OMIM:602282 a owl:Class ; @@ -153004,7 +157437,6 @@ OMIM:602282 a owl:Class ; PMID:9070858, PMID:9721207, PMID:9804623 ; - oboInOwl:hasDbXref UMLS:C1414254 ; oboInOwl:hasExactSynonym "LPAR1", "endothelial differentiation gene 2", "lpa receptor edg2", @@ -153014,21 +157446,24 @@ OMIM:602282 a owl:Class ; "ventricular zone gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1902 ; - skos:exactMatch HGNC_symbol:LPAR1 ; + skos:exactMatch UMLS:C1414254, + HGNC:3166, + HGNC_symbol:LPAR1 ; biolink:category biolink:Gene . OMIM:602283 a owl:Class ; rdfs:label "CCL8" ; IAO:0000142 PMID:1613466, PMID:9119400 ; - oboInOwl:hasDbXref UMLS:C1332693 ; oboInOwl:hasExactSynonym "CCL8", "chemokine, cc motif, ligand 8", "monocyte chemotactic protein 2", "small inducible cytokine subfamily a, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6355 ; - skos:exactMatch HGNC_symbol:CCL8 ; + skos:exactMatch UMLS:C1332693, + HGNC:10635, + HGNC_symbol:CCL8 ; biolink:category biolink:Gene . OMIM:602284 a owl:Class ; @@ -153036,14 +157471,15 @@ OMIM:602284 a owl:Class ; IAO:0000142 PMID:1460021, PMID:22579288, PMID:9070944 ; - oboInOwl:hasDbXref UMLS:C1412806 ; oboInOwl:hasExactSynonym "BMP8B", "bmp8", "bone morphogenetic protein 8b", "osteogenic protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:656 ; - skos:exactMatch HGNC_symbol:BMP8B ; + skos:exactMatch UMLS:C1412806, + HGNC:1075, + HGNC_symbol:BMP8B ; biolink:category biolink:Gene . OMIM:602285 a owl:Class ; @@ -153051,14 +157487,15 @@ OMIM:602285 a owl:Class ; IAO:0000142 PMID:10640822, PMID:8640782, PMID:9878265 ; - oboInOwl:hasDbXref UMLS:C1417206 ; oboInOwl:hasExactSynonym "MMP17", "matrix metalloproteinase 17", "matrix metalloproteinase 17, membrane-type", "membrane-type matrix metalloproteinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4326 ; - skos:exactMatch HGNC_symbol:MMP17 ; + skos:exactMatch UMLS:C1417206, + HGNC:7163, + HGNC_symbol:MMP17 ; biolink:category biolink:Gene . OMIM:602286 a owl:Class ; @@ -153074,8 +157511,6 @@ OMIM:602286 a owl:Class ; PMID:8976377 ; RO:0002525 CHR:9606chr11q23.3-q24.1 ; RO:0003303 OMIM:607330 ; - oboInOwl:hasDbXref UMLS:C1419827, - UMLS:C1846421 ; oboInOwl:hasExactSynonym "3-beta-hydroxysteroid-delta-5-desaturase", "SC5D", "delta-5-desaturase", @@ -153085,14 +157520,16 @@ OMIM:602286 a owl:Class ; "sterol c5-desaturase-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6309 ; - skos:exactMatch HGNC_symbol:SC5D ; + skos:exactMatch UMLS:C1419827, + UMLS:C1846421, + HGNC:10547, + HGNC_symbol:SC5D ; biolink:category biolink:Gene . OMIM:602287 a owl:Class ; rdfs:label "ERP29" ; IAO:0000142 PMID:9037184, PMID:9738895 ; - oboInOwl:hasDbXref UMLS:C1422199 ; oboInOwl:hasExactSynonym "ERP29", "chromosome 12 open reading frame 8", "endoplasmic reticulum protein, 29-kd", @@ -153100,7 +157537,9 @@ OMIM:602287 a owl:Class ; "erp29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10961 ; - skos:exactMatch HGNC_symbol:ERP29 ; + skos:exactMatch UMLS:C1422199, + HGNC:13799, + HGNC_symbol:ERP29 ; biolink:category biolink:Gene . OMIM:602288 a owl:Class ; @@ -153109,12 +157548,13 @@ OMIM:602288 a owl:Class ; PMID:23563176, PMID:8662891, PMID:9073523 ; - oboInOwl:hasDbXref UMLS:C1419768 ; oboInOwl:hasExactSynonym "RTKN", "rhotekin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6242 ; - skos:exactMatch HGNC_symbol:RTKN ; + skos:exactMatch UMLS:C1419768, + HGNC:10466, + HGNC_symbol:RTKN ; biolink:category biolink:Gene . OMIM:602289 a owl:Class ; @@ -153124,14 +157564,15 @@ OMIM:602289 a owl:Class ; PMID:12471260, PMID:8608938, PMID:8670811 ; - oboInOwl:hasDbXref UMLS:C1333248 ; oboInOwl:hasExactSynonym "DRAP1", "dr1-associated protein 1", "nc2-alpha", "negative cofactor 2-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10589 ; - skos:exactMatch HGNC_symbol:DRAP1 ; + skos:exactMatch UMLS:C1333248, + HGNC:3019, + HGNC_symbol:DRAP1 ; biolink:category biolink:Gene . OMIM:602290 a owl:Class ; @@ -153150,7 +157591,6 @@ OMIM:602290 a owl:Class ; PMID:7778269 ; RO:0002525 CHR:9606chr9q33.1 ; RO:0003303 OMIM:254110 ; - oboInOwl:hasDbXref UMLS:C1424232 ; oboInOwl:hasExactSynonym "TRIM32", "bbs11 gene", "ht2a", @@ -153158,7 +157598,9 @@ OMIM:602290 a owl:Class ; "tripartite motif-containing protein 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22954 ; - skos:exactMatch HGNC_symbol:TRIM32 ; + skos:exactMatch UMLS:C1424232, + HGNC:16380, + HGNC_symbol:TRIM32 ; biolink:category biolink:Gene . OMIM:602291 a owl:Class ; @@ -153179,17 +157621,18 @@ OMIM:602291 a owl:Class ; PMID:9739041 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:618699 ; - oboInOwl:hasDbXref UMLS:C1414683, - UMLS:C5231466, - UMLS:C5231528, - UMLS:C5231529 ; oboInOwl:hasExactSynonym "FOXJ1", "forkhead box j1", "forkhead, drosophila, homolog of, 13", "hfh4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2302 ; - skos:exactMatch HGNC_symbol:FOXJ1 ; + skos:exactMatch UMLS:C1414683, + UMLS:C5231466, + UMLS:C5231528, + UMLS:C5231529, + HGNC:3816, + HGNC_symbol:FOXJ1 ; biolink:category biolink:Gene . OMIM:602292 a owl:Class ; @@ -153204,14 +157647,15 @@ OMIM:602292 a owl:Class ; PMID:9073515 ; RO:0002525 CHR:9606chr10q26.3 ; RO:0003303 OMIM:616277 ; - oboInOwl:hasDbXref UMLS:C1414247, - UMLS:C4225391 ; oboInOwl:hasExactSynonym "ECHS1", "enoyl-coa hydratase, short-chain, 1, mitochondrial", "short-chain enoyl-coa hydratase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1892 ; - skos:exactMatch HGNC_symbol:ECHS1 ; + skos:exactMatch UMLS:C1414247, + UMLS:C4225391, + HGNC:3151, + HGNC_symbol:ECHS1 ; biolink:category biolink:Gene . OMIM:602293 a owl:Class ; @@ -153230,7 +157674,6 @@ OMIM:602293 a owl:Class ; PMID:9852683 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:618267 ; - oboInOwl:hasDbXref UMLS:C1424635 ; oboInOwl:hasExactSynonym "CIB1", "calcium- and integrin-binding protein 1", "calmyrin", @@ -153239,7 +157682,9 @@ OMIM:602293 a owl:Class ; "kip" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10519 ; - skos:exactMatch HGNC_symbol:CIB1 ; + skos:exactMatch UMLS:C1424635, + HGNC:16920, + HGNC_symbol:CIB1 ; biolink:category biolink:Gene . OMIM:602294 a owl:Class ; @@ -153266,13 +157711,14 @@ OMIM:602294 a owl:Class ; PMID:8034310, PMID:8652662, PMID:9119385 ; - oboInOwl:hasDbXref UMLS:C1415626 ; oboInOwl:hasExactSynonym "FOXA1", "forkhead box a1", "hepatocyte nuclear factor 3-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3169 ; - skos:exactMatch HGNC_symbol:FOXA1 ; + skos:exactMatch UMLS:C1415626, + HGNC:5021, + HGNC_symbol:FOXA1 ; biolink:category biolink:Gene . OMIM:602295 a owl:Class ; @@ -153282,13 +157728,14 @@ OMIM:602295 a owl:Class ; PMID:21716291, PMID:8034310, PMID:9119385 ; - oboInOwl:hasDbXref UMLS:C1415628 ; oboInOwl:hasExactSynonym "FOXA3", "forkhead box a3", "hepatocyte nuclear factor 3-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3171 ; - skos:exactMatch HGNC_symbol:FOXA3 ; + skos:exactMatch UMLS:C1415628, + HGNC:5023, + HGNC_symbol:FOXA3 ; biolink:category biolink:Gene . OMIM:602296 a owl:Class ; @@ -153301,14 +157748,15 @@ OMIM:602296 a owl:Class ; PMID:9013859 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:612936 ; - oboInOwl:hasDbXref UMLS:C1412454 ; oboInOwl:hasExactSynonym "AP4M1", "adaptor-related protein complex 4, mu-1 subunit", "mu-adaptin-related protein 2", "mu-arp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9179 ; - skos:exactMatch HGNC_symbol:AP4M1 ; + skos:exactMatch UMLS:C1412454, + HGNC:574, + HGNC_symbol:AP4M1 ; biolink:category biolink:Gene . OMIM:602297 a owl:Class ; @@ -153317,7 +157765,6 @@ OMIM:602297 a owl:Class ; PMID:12649481, PMID:14699416, PMID:9126477 ; - oboInOwl:hasDbXref UMLS:C1414307 ; oboInOwl:hasExactSynonym "EFNB3", "efl6", "eph-related receptor tyrosine kinase ligand 8", @@ -153325,7 +157772,9 @@ OMIM:602297 a owl:Class ; "ligand of eph-related kinase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1949 ; - skos:exactMatch HGNC_symbol:EFNB3 ; + skos:exactMatch UMLS:C1414307, + HGNC:3228, + HGNC_symbol:EFNB3 ; biolink:category biolink:Gene . OMIM:602298 a owl:Class ; @@ -153347,12 +157796,13 @@ OMIM:602298 a owl:Class ; PMID:9428630 ; RO:0002525 CHR:9606chr3q21.3 ; RO:0003303 OMIM:600882 ; - oboInOwl:hasDbXref UMLS:C1826758 ; oboInOwl:hasExactSynonym "RAB7", "ras-associated protein rab7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7879 ; - skos:exactMatch HGNC_symbol:RAB7A ; + skos:exactMatch UMLS:C1826758, + HGNC:9788, + HGNC_symbol:RAB7A ; biolink:category biolink:Gene . OMIM:602299 a owl:Class ; @@ -153362,7 +157812,6 @@ OMIM:602299 a owl:Class ; OMIM:602300 a owl:Class ; rdfs:label "GAL3ST1" ; IAO:0000142 PMID:9030544 ; - oboInOwl:hasDbXref UMLS:C1428362 ; oboInOwl:hasExactSynonym "3-prime-phosphoadenylylsulfate:galactosylceramide 3-prime-sulfotransferase", "GAL3ST1", "cerebroside sulfotransferase", @@ -153371,7 +157820,9 @@ OMIM:602300 a owl:Class ; "galcer sulfotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9514 ; - skos:exactMatch HGNC_symbol:GAL3ST1 ; + skos:exactMatch UMLS:C1428362, + HGNC:24240, + HGNC_symbol:GAL3ST1 ; biolink:category biolink:Gene . OMIM:602301 a owl:Class ; @@ -153391,14 +157842,15 @@ OMIM:602301 a owl:Class ; PMID:8972232, PMID:9073520, PMID:9742083 ; - oboInOwl:hasDbXref UMLS:C1415020 ; oboInOwl:hasExactSynonym "KAT2A", "gcn5", "general control of amino acid synthesis, yeast, homolog-like 2", "lysine acetyltransferase 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2648 ; - skos:exactMatch HGNC_symbol:KAT2A ; + skos:exactMatch UMLS:C1415020, + HGNC:4201, + HGNC_symbol:KAT2A ; biolink:category biolink:Gene . OMIM:602302 a owl:Class ; @@ -153429,17 +157881,18 @@ OMIM:602302 a owl:Class ; PMID:9892925 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:209500 ; - oboInOwl:hasDbXref UMLS:C1415713, - UMLS:C1859592, - UMLS:C1859877, - UMLS:C2750815, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "HR", "hairless, mouse, homolog of", "hr lysine demethylase and nuclear receptor corepressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55806 ; - skos:exactMatch HGNC_symbol:HR ; + skos:exactMatch UMLS:C1415713, + UMLS:C1859592, + UMLS:C1859877, + UMLS:C2750815, + UMLS:C4015968, + HGNC:5172, + HGNC_symbol:HR ; biolink:category biolink:Gene . OMIM:602303 a owl:Class ; @@ -153453,7 +157906,6 @@ OMIM:602303 a owl:Class ; PMID:8684459, PMID:9660950, PMID:9742083 ; - oboInOwl:hasDbXref UMLS:C1366462 ; oboInOwl:hasExactSynonym "KAT2B", "crebbp-associated factor", "lysine acetyltransferase 2b", @@ -153461,7 +157913,9 @@ OMIM:602303 a owl:Class ; "p300/cbp-associated factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8850 ; - skos:exactMatch HGNC_symbol:KAT2B ; + skos:exactMatch UMLS:C1366462, + HGNC:8638, + HGNC_symbol:KAT2B ; biolink:category biolink:Gene . OMIM:602304 a owl:Class ; @@ -153475,7 +157929,6 @@ OMIM:602304 a owl:Class ; PMID:29320480, PMID:32732282, PMID:7997240 ; - oboInOwl:hasDbXref UMLS:C1417822 ; oboInOwl:hasExactSynonym "NR1D2", "bd73", "nuclear receptor subfamily 1, group d, member 2", @@ -153484,7 +157937,9 @@ OMIM:602304 a owl:Class ; "rev-erba-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9975 ; - skos:exactMatch HGNC_symbol:NR1D2 ; + skos:exactMatch UMLS:C1417822, + HGNC:7963, + HGNC_symbol:NR1D2 ; biolink:category biolink:Gene . OMIM:602305 a owl:Class ; @@ -153496,13 +157951,14 @@ OMIM:602306 a owl:Class ; IAO:0000142 PMID:10079301, PMID:8976381, PMID:9545376 ; - oboInOwl:hasDbXref UMLS:C1538835 ; oboInOwl:hasExactSynonym "RGL2", "ral guanine nucleotide dissociation stimulator-like 2", "ras-associated protein rab2l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5863 ; - skos:exactMatch HGNC_symbol:RGL2 ; + skos:exactMatch UMLS:C1538835, + HGNC:9769, + HGNC_symbol:RGL2 ; biolink:category biolink:Gene . OMIM:602307 a owl:Class ; @@ -153514,14 +157970,15 @@ OMIM:602307 a owl:Class ; PMID:31097636, PMID:9169421, PMID:9647693 ; - oboInOwl:hasDbXref UMLS:C1538115 ; oboInOwl:hasExactSynonym "WWP1", "tgif-interacting ubiquitin ligase 1", "ww domain-containing e3 ubiquitin protein ligase 1", "ww domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11059 ; - skos:exactMatch HGNC_symbol:WWP1 ; + skos:exactMatch UMLS:C1538115, + HGNC:17004, + HGNC_symbol:WWP1 ; biolink:category biolink:Gene . OMIM:602308 a owl:Class ; @@ -153530,25 +157987,27 @@ OMIM:602308 a owl:Class ; PMID:29685889, PMID:9169421, PMID:9647693 ; - oboInOwl:hasDbXref UMLS:C1538116 ; oboInOwl:hasExactSynonym "WWP2", "ww domain-containing e3 ubiquitin protein ligase 2", "ww domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11060 ; - skos:exactMatch HGNC_symbol:WWP2 ; + skos:exactMatch UMLS:C1538116, + HGNC:16804, + HGNC_symbol:WWP2 ; biolink:category biolink:Gene . OMIM:602309 a owl:Class ; rdfs:label "TULP2" ; IAO:0000142 PMID:9096357 ; - oboInOwl:hasDbXref UMLS:C1421242 ; oboInOwl:hasExactSynonym "TULP2", "tub-like protein 2", "tubby-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7288 ; - skos:exactMatch HGNC_symbol:TULP2 ; + skos:exactMatch UMLS:C1421242, + HGNC:12424, + HGNC_symbol:TULP2 ; biolink:category biolink:Gene . OMIM:602310 a owl:Class ; @@ -153558,14 +158017,15 @@ OMIM:602310 a owl:Class ; PMID:8041632, PMID:8134115, PMID:8871567 ; - oboInOwl:hasDbXref UMLS:C1419305 ; oboInOwl:hasExactSynonym "RBMS1", "myc single-strand binding protein", "rna-binding motif protein, single strand-interacting, 1", "scr2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5937 ; - skos:exactMatch HGNC_symbol:RBMS1 ; + skos:exactMatch UMLS:C1419305, + HGNC:9907, + HGNC_symbol:RBMS1 ; biolink:category biolink:Gene . OMIM:602311 a owl:Class ; @@ -153584,14 +158044,15 @@ OMIM:602311 a owl:Class ; PMID:9354787 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:601665 ; - oboInOwl:hasDbXref UMLS:C1412286 ; oboInOwl:hasExactSynonym "AGRP", "agouti-related neuropeptide", "agouti-related protein, mouse, homolog of", "agouti-related transcript, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:181 ; - skos:exactMatch HGNC_symbol:AGRP ; + skos:exactMatch UMLS:C1412286, + HGNC:330, + HGNC_symbol:AGRP ; biolink:category biolink:Gene . OMIM:602312 a owl:Class ; @@ -153602,25 +158063,27 @@ OMIM:602313 a owl:Class ; rdfs:label "OVOL1" ; IAO:0000142 PMID:9067266, PMID:9383297 ; - oboInOwl:hasDbXref UMLS:C1418205 ; oboInOwl:hasExactSynonym "OVOL1", "ovo, drosophila, homolog of, 1", "ovo-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5017 ; - skos:exactMatch HGNC_symbol:OVOL1 ; + skos:exactMatch UMLS:C1418205, + HGNC:8525, + HGNC_symbol:OVOL1 ; biolink:category biolink:Gene . OMIM:602314 a owl:Class ; rdfs:label "LAD1" ; IAO:0000142 PMID:9119369 ; - oboInOwl:hasDbXref UMLS:C1416770 ; oboInOwl:hasExactSynonym "LAD1", "ladinin 1", "linear iga disease antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3898 ; - skos:exactMatch HGNC_symbol:LAD1 ; + skos:exactMatch UMLS:C1416770, + HGNC:6472, + HGNC_symbol:LAD1 ; biolink:category biolink:Gene . OMIM:602315 a owl:Class ; @@ -153631,7 +158094,6 @@ OMIM:602315 a owl:Class ; PMID:7839144, PMID:9038352, PMID:9465908 ; - oboInOwl:hasDbXref UMLS:C1456386 ; oboInOwl:hasExactSynonym "MAP2K3", "mapk/erk kinase 3", "mitogen-activated protein kinase kinase 3", @@ -153639,32 +158101,36 @@ OMIM:602315 a owl:Class ; "protein kinase, mitogen-activated, kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5606 ; - skos:exactMatch HGNC_symbol:MAP2K3 ; + skos:exactMatch UMLS:C1456386, + HGNC:6843, + HGNC_symbol:MAP2K3 ; biolink:category biolink:Gene . OMIM:602316 a owl:Class ; rdfs:label "PRDX6" ; IAO:0000142 PMID:8999971 ; - oboInOwl:hasDbXref UMLS:C1424518 ; oboInOwl:hasExactSynonym "PRDX6", "peroxiredoxin 6", "phospholipase a2, lysosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9588 ; - skos:exactMatch HGNC_symbol:PRDX6 ; + skos:exactMatch UMLS:C1424518, + HGNC:16753, + HGNC_symbol:PRDX6 ; biolink:category biolink:Gene . OMIM:602317 a owl:Class ; rdfs:label "STAC1" ; IAO:0000142 PMID:8954993, PMID:9465308 ; - oboInOwl:hasDbXref UMLS:C1420447 ; oboInOwl:hasExactSynonym "STAC1", "sh3 and cysteine-rich domains 1", "stac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6769 ; - skos:exactMatch HGNC_symbol:STAC ; + skos:exactMatch UMLS:C1420447, + HGNC:11353, + HGNC_symbol:STAC ; biolink:category biolink:Gene . OMIM:602318 a owl:Class ; @@ -153673,27 +158139,29 @@ OMIM:602318 a owl:Class ; PMID:20550934, PMID:7681833, PMID:9118945 ; - oboInOwl:hasDbXref UMLS:C1826316 ; oboInOwl:hasExactSynonym "MTERF1", "mterf", "transcription termination factor 1, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7978 ; - skos:exactMatch HGNC_symbol:MTERF1 ; + skos:exactMatch UMLS:C1826316, + HGNC:21463, + HGNC_symbol:MTERF1 ; biolink:category biolink:Gene . OMIM:602319 a owl:Class ; rdfs:label "NELL1" ; IAO:0000142 PMID:16537572, PMID:8975702 ; - oboInOwl:hasDbXref UMLS:C1417676 ; oboInOwl:hasExactSynonym "NELL1", "nel-like 1", "neural egfl-like 1", "neural epidermal growth factor-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4745 ; - skos:exactMatch HGNC_symbol:NELL1 ; + skos:exactMatch UMLS:C1417676, + HGNC:7750, + HGNC_symbol:NELL1 ; biolink:category biolink:Gene . OMIM:602320 a owl:Class ; @@ -153701,28 +158169,30 @@ OMIM:602320 a owl:Class ; IAO:0000142 PMID:26586761, PMID:32499443, PMID:8975702 ; - oboInOwl:hasDbXref UMLS:C1417677 ; oboInOwl:hasExactSynonym "NELL2", "nel-like 2", "neural egfl-like 2", "neural epidermal growth factor-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4753 ; - skos:exactMatch HGNC_symbol:NELL2 ; + skos:exactMatch UMLS:C1417677, + HGNC:7751, + HGNC_symbol:NELL2 ; biolink:category biolink:Gene . OMIM:602321 a owl:Class ; rdfs:label "GSTK1" ; IAO:0000142 PMID:14742434, PMID:8920976 ; - oboInOwl:hasDbXref UMLS:C1424627 ; oboInOwl:hasExactSynonym "GSTK1", "glutathione s-transferase k1", "glutathione s-transferase, kappa-1", "gst13-13, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:373156 ; - skos:exactMatch HGNC_symbol:GSTK1 ; + skos:exactMatch UMLS:C1424627, + HGNC:16906, + HGNC_symbol:GSTK1 ; biolink:category biolink:Gene . OMIM:602322 a owl:Class ; @@ -153768,27 +158238,29 @@ OMIM:602322 a owl:Class ; PMID:9620783 ; RO:0002525 CHR:9606chr3q26.2 ; RO:0003303 OMIM:614743 ; - oboInOwl:hasDbXref UMLS:C1366448 ; oboInOwl:hasExactSynonym "TERC", "telomerase RNA candidate 3", "telomerase RNA component", "tr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7012 ; - skos:exactMatch HGNC_symbol:TERC ; + skos:exactMatch UMLS:C1366448, + HGNC:11727, + HGNC_symbol:TERC ; biolink:category biolink:Gene . OMIM:602324 a owl:Class ; rdfs:label "HNRNPH3" ; IAO:0000142 PMID:8999868 ; - oboInOwl:hasDbXref UMLS:C1415644 ; oboInOwl:hasExactSynonym "2h9", "HNRNPH3", "heterogeneous nuclear ribonucleoprotein h3", "hnrph3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3189 ; - skos:exactMatch HGNC_symbol:HNRNPH3 ; + skos:exactMatch UMLS:C1415644, + HGNC:5043, + HGNC_symbol:HNRNPH3 ; biolink:category biolink:Gene . OMIM:602325 a owl:Class ; @@ -153799,7 +158271,6 @@ OMIM:602325 a owl:Class ; PMID:9032289, PMID:9049310, PMID:9878069 ; - oboInOwl:hasDbXref UMLS:C1414357 ; oboInOwl:hasExactSynonym "EIF4G2", "death-associated protein 5", "eukaryotic translation initiation factor 4-gamma, 2", @@ -153807,7 +158278,9 @@ OMIM:602325 a owl:Class ; "p97" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1982 ; - skos:exactMatch HGNC_symbol:EIF4G2 ; + skos:exactMatch UMLS:C1414357, + HGNC:3297, + HGNC_symbol:EIF4G2 ; biolink:category biolink:Gene . OMIM:602326 a owl:Class ; @@ -153815,19 +158288,19 @@ OMIM:602326 a owl:Class ; IAO:0000142 PMID:12193787, PMID:25324392, PMID:9417910 ; - oboInOwl:hasDbXref UMLS:C1419641 ; oboInOwl:hasExactSynonym "RPL23A", "ribosomal protein l23a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6147 ; - skos:exactMatch HGNC_symbol:RPL23A ; + skos:exactMatch UMLS:C1419641, + HGNC:10317, + HGNC_symbol:RPL23A ; biolink:category biolink:Gene . OMIM:602327 a owl:Class ; rdfs:label "PSD" ; IAO:0000142 PMID:12082148, PMID:9417912 ; - oboInOwl:hasDbXref UMLS:C1418984 ; oboInOwl:hasExactSynonym "PSD", "efa6a", "exchange factor for arf6", @@ -153835,7 +158308,9 @@ OMIM:602327 a owl:Class ; "tyl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5662 ; - skos:exactMatch HGNC_symbol:PSD ; + skos:exactMatch UMLS:C1418984, + HGNC:9507, + HGNC_symbol:PSD ; biolink:category biolink:Gene . OMIM:602328 a owl:Class ; @@ -153855,20 +158330,20 @@ OMIM:602329 a owl:Class ; PMID:8722778, PMID:9043078, PMID:9417916 ; - oboInOwl:hasDbXref UMLS:C1419939 ; oboInOwl:hasExactSynonym "SEL1L", "sel1-like", "suppressor of lin12-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6400 ; - skos:exactMatch HGNC_symbol:SEL1L ; + skos:exactMatch UMLS:C1419939, + HGNC:10717, + HGNC_symbol:SEL1L ; biolink:category biolink:Gene . OMIM:602330 a owl:Class ; rdfs:label "ABLIM1" ; IAO:0000142 PMID:9245787, PMID:9417918 ; - oboInOwl:hasDbXref UMLS:C1412098 ; oboInOwl:hasExactSynonym "ABLIM1", "ablim", "actin-binding 51m protein family, member 1", @@ -153876,7 +158351,9 @@ OMIM:602330 a owl:Class ; "limatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3983 ; - skos:exactMatch HGNC_symbol:ABLIM1 ; + skos:exactMatch UMLS:C1412098, + HGNC:78, + HGNC_symbol:ABLIM1 ; biolink:category biolink:Gene . OMIM:602331 a owl:Class ; @@ -153884,14 +158361,15 @@ OMIM:602331 a owl:Class ; IAO:0000142 PMID:11379876, PMID:9417919, PMID:9765232 ; - oboInOwl:hasDbXref UMLS:C1335087 ; oboInOwl:hasExactSynonym "ORC5", "orc5-like", "origin recognition complex, subunit 5", "origin recognition complex, subunit 5, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5001 ; - skos:exactMatch HGNC_symbol:ORC5 ; + skos:exactMatch UMLS:C1335087, + HGNC:8491, + HGNC_symbol:ORC5 ; biolink:category biolink:Gene . OMIM:602332 a owl:Class ; @@ -153902,7 +158380,6 @@ OMIM:602332 a owl:Class ; PMID:9417923 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:617985 ; - oboInOwl:hasDbXref UMLS:C1826384 ; oboInOwl:hasExactSynonym "NCAPH", "barren, drosophila, homolog of, 1", "chromosome-associated protein h", @@ -153910,7 +158387,9 @@ OMIM:602332 a owl:Class ; "non-smc condensin 1 complex subunit h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23397 ; - skos:exactMatch HGNC_symbol:NCAPH ; + skos:exactMatch UMLS:C1826384, + HGNC:1112, + HGNC_symbol:NCAPH ; biolink:category biolink:Gene . OMIM:602333 a owl:Class ; @@ -153922,13 +158401,14 @@ OMIM:602333 a owl:Class ; PMID:8996089, PMID:9126480, PMID:9615230 ; - oboInOwl:hasDbXref UMLS:C0812384 ; oboInOwl:hasExactSynonym "EMP1", "epithelial membrane protein 1", "tumor-associated membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2012 ; - skos:exactMatch HGNC_symbol:EMP1 ; + skos:exactMatch UMLS:C0812384, + HGNC:3333, + HGNC_symbol:EMP1 ; biolink:category biolink:Gene . OMIM:602334 a owl:Class ; @@ -153940,12 +158420,13 @@ OMIM:602334 a owl:Class ; PMID:9615230 ; RO:0002525 CHR:9606chr16p13.13 ; RO:0003303 OMIM:615861 ; - oboInOwl:hasDbXref UMLS:C1414388 ; oboInOwl:hasExactSynonym "EMP2", "epithelial membrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2013 ; - skos:exactMatch HGNC_symbol:EMP2 ; + skos:exactMatch UMLS:C1414388, + HGNC:3334, + HGNC_symbol:EMP2 ; biolink:category biolink:Gene . OMIM:602335 a owl:Class ; @@ -153954,12 +158435,13 @@ OMIM:602335 a owl:Class ; PMID:8917086, PMID:8996089, PMID:9615230 ; - oboInOwl:hasDbXref UMLS:C1414389 ; oboInOwl:hasExactSynonym "EMP3", "epithelial membrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2014 ; - skos:exactMatch HGNC_symbol:EMP3 ; + skos:exactMatch UMLS:C1414389, + HGNC:3335, + HGNC_symbol:EMP3 ; biolink:category biolink:Gene . OMIM:602336 a owl:Class ; @@ -153972,13 +158454,14 @@ OMIM:602336 a owl:Class ; PMID:9143508 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:617654 ; - oboInOwl:hasDbXref UMLS:C1335633 ; oboInOwl:hasExactSynonym "ROR1", "neurotrophic tyrosine kinase, receptor-related 1", "receptor tyrosine kinase-like orphan receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4919 ; - skos:exactMatch HGNC_symbol:ROR1 ; + skos:exactMatch UMLS:C1335633, + HGNC:10256, + HGNC_symbol:ROR1 ; biolink:category biolink:Gene . OMIM:602337 a owl:Class ; @@ -154015,45 +158498,48 @@ OMIM:602337 a owl:Class ; PMID:9973296 ; RO:0002525 CHR:9606chr9q22.31 ; RO:0003303 OMIM:268310 ; - oboInOwl:hasDbXref UMLS:C1366544 ; oboInOwl:hasExactSynonym "ROR2", "neurotrophic tyrosine kinase, receptor-related 2", "receptor tyrosine kinase-like orphan receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4920 ; - skos:exactMatch HGNC_symbol:ROR2 ; + skos:exactMatch UMLS:C1366544, + HGNC:10257, + HGNC_symbol:ROR2 ; biolink:category biolink:Gene . OMIM:602338 a owl:Class ; rdfs:label "PRPF4B" ; IAO:0000142 PMID:9102632 ; - oboInOwl:hasDbXref UMLS:C1424919 ; oboInOwl:hasExactSynonym "PRPF4B", "pre-mrna-processing factor 4b", "precursor mrna-processing factor 4, s. pombe, homolog of, B", "prp4, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8899 ; - skos:exactMatch HGNC_symbol:PRPF4B ; + skos:exactMatch UMLS:C1424919, + HGNC:17346, + HGNC_symbol:PRPF4B ; biolink:category biolink:Gene . OMIM:602339 a owl:Class ; rdfs:label "SLC15A2" ; IAO:0000142 PMID:7756356 ; - oboInOwl:hasDbXref UMLS:C1420101 ; oboInOwl:hasExactSynonym "SLC15A2", "hydrogen ion/peptide cotransporter, kidney", "solute carrier family 15 (h+/peptide transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6565 ; - skos:exactMatch HGNC_symbol:SLC15A2 ; + skos:exactMatch UMLS:C1420101, + HGNC:10921, + HGNC_symbol:SLC15A2 ; biolink:category biolink:Gene . OMIM:602340 a owl:Class ; rdfs:label "sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth" ; IAO:0000142 PMID:9450850 ; - oboInOwl:hasDbXref UMLS:C1865645 ; - oboInOwl:hasExactSynonym "sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth" . + oboInOwl:hasExactSynonym "sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth" ; + skos:exactMatch UMLS:C1865645 . OMIM:602341 a owl:Class ; rdfs:label "FOXM1" ; @@ -154069,7 +158555,6 @@ OMIM:602341 a owl:Class ; PMID:9032290, PMID:9242644, PMID:9441747 ; - oboInOwl:hasDbXref UMLS:C1414685 ; oboInOwl:hasExactSynonym "FOXM1", "forkhead box m1", "forkhead box m1b transcription factor", @@ -154078,7 +158563,9 @@ OMIM:602341 a owl:Class ; "trident" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2305 ; - skos:exactMatch HGNC_symbol:FOXM1 ; + skos:exactMatch UMLS:C1414685, + HGNC:3818, + HGNC_symbol:FOXM1 ; biolink:category biolink:Gene . OMIM:602343 a owl:Class ; @@ -154097,25 +158584,27 @@ OMIM:602343 a owl:Class ; PMID:8663995, PMID:9038365, PMID:9215637 ; - oboInOwl:hasDbXref UMLS:C1421168 ; oboInOwl:hasExactSynonym "TRPC1", "transient receptor potential cation channel, subfamily c, member 1", "transient receptor potential channel 1", "transient receptor potential, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7220 ; - skos:exactMatch HGNC_symbol:TRPC1 ; + skos:exactMatch UMLS:C1421168, + HGNC:12333, + HGNC_symbol:TRPC1 ; biolink:category biolink:Gene . OMIM:602344 a owl:Class ; rdfs:label "PAFAH2" ; IAO:0000142 PMID:8955149 ; - oboInOwl:hasDbXref UMLS:C1418250 ; oboInOwl:hasExactSynonym "PAFAH2", "platelet-activating factor acetylhydrolase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5051 ; - skos:exactMatch HGNC_symbol:PAFAH2 ; + skos:exactMatch UMLS:C1418250, + HGNC:8579, + HGNC_symbol:PAFAH2 ; biolink:category biolink:Gene . OMIM:602345 a owl:Class ; @@ -154135,14 +158624,15 @@ OMIM:602345 a owl:Class ; PMID:9215637 ; RO:0002525 CHR:9606chr4q27 ; RO:0003303 OMIM:616410 ; - oboInOwl:hasDbXref UMLS:C1421170 ; oboInOwl:hasExactSynonym "TRPC3", "transient receptor potential cation channel, subfamily c, member 3", "transient receptor potential channel 3", "transient receptor potential, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7222 ; - skos:exactMatch HGNC_symbol:TRPC3 ; + skos:exactMatch UMLS:C1421170, + HGNC:12335, + HGNC_symbol:TRPC3 ; biolink:category biolink:Gene . OMIM:602346 a owl:Class ; @@ -154160,7 +158650,6 @@ OMIM:602346 a owl:Class ; PMID:9118959 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:616286 ; - oboInOwl:hasDbXref UMLS:C1332770 ; oboInOwl:hasExactSynonym "CNTNAP1", "contactin-associated protein", "contactin-associated protein 1", @@ -154171,7 +158660,9 @@ OMIM:602346 a owl:Class ; "paranodin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8506 ; - skos:exactMatch HGNC_symbol:CNTNAP1 ; + skos:exactMatch UMLS:C1332770, + HGNC:8011, + HGNC_symbol:CNTNAP1 ; biolink:category biolink:Gene . OMIM:602347 a owl:Class ; @@ -154180,18 +158671,17 @@ OMIM:602347 a owl:Class ; PMID:8666348, PMID:9419367, PMID:9923886 ; - oboInOwl:hasDbXref UMLS:C1865643 ; oboInOwl:hasExactSynonym "PFIC3", "cholestasis, progressive familial intrahepatic, 3", "cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase", "mdr3 deficiency" ; rdfs:subClassOf OMIMPS:211600 ; + skos:exactMatch UMLS:C1865643 ; biolink:category biolink:Disease . OMIM:602348 a owl:Class ; rdfs:label "SNAPC3" ; IAO:0000142 PMID:9003788 ; - oboInOwl:hasDbXref UMLS:C1420274 ; oboInOwl:hasExactSynonym "SNAPC3", "pse-binding transcription factor, beta", "ptf-beta", @@ -154199,19 +158689,22 @@ OMIM:602348 a owl:Class ; "small nuclear rna-activating protein complex, polypeptide 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6619 ; - skos:exactMatch HGNC_symbol:SNAPC3 ; + skos:exactMatch UMLS:C1420274, + HGNC:11136, + HGNC_symbol:SNAPC3 ; biolink:category biolink:Gene . OMIM:602349 a owl:Class ; rdfs:label "NTN3" ; IAO:0000142 PMID:9143507 ; - oboInOwl:hasDbXref UMLS:C1417868 ; oboInOwl:hasExactSynonym "NTN3", "netrin 2, chicken, homolog-like", "netrin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4917 ; - skos:exactMatch HGNC_symbol:NTN3 ; + skos:exactMatch UMLS:C1417868, + HGNC:8030, + HGNC_symbol:NTN3 ; biolink:category biolink:Gene . OMIM:602350 a owl:Class ; @@ -154219,13 +158712,14 @@ OMIM:602350 a owl:Class ; IAO:0000142 PMID:1824695, PMID:9143500, PMID:9886843 ; - oboInOwl:hasDbXref UMLS:C1417847 ; oboInOwl:hasExactSynonym "NRGN", "neurogranin", "protein kinase c substrate rc3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4900 ; - skos:exactMatch HGNC_symbol:NRGN ; + skos:exactMatch UMLS:C1417847, + HGNC:8000, + HGNC_symbol:NRGN ; biolink:category biolink:Gene . OMIM:602351 a owl:Class ; @@ -154238,14 +158732,15 @@ OMIM:602351 a owl:Class ; PMID:8976386, PMID:9144535, PMID:9425281 ; - oboInOwl:hasDbXref UMLS:C1332767 ; oboInOwl:hasExactSynonym "CMKLR1", "chemerin receptor", "chemokine-like receptor 1", "chemr23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1240 ; - skos:exactMatch HGNC_symbol:CMKLR1 ; + skos:exactMatch UMLS:C1332767, + HGNC:2121, + HGNC_symbol:CMKLR1 ; biolink:category biolink:Gene . OMIM:602352 a owl:Class ; @@ -154253,12 +158748,13 @@ OMIM:602352 a owl:Class ; IAO:0000142 PMID:12447356, PMID:8921350, PMID:9419371 ; - oboInOwl:hasDbXref UMLS:C1415170 ; oboInOwl:hasExactSynonym "GNRH2", "gonadotropin-releasing hormone 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2797 ; - skos:exactMatch HGNC_symbol:GNRH2 ; + skos:exactMatch UMLS:C1415170, + HGNC:4420, + HGNC_symbol:GNRH2 ; biolink:category biolink:Gene . OMIM:602353 a owl:Class ; @@ -154270,7 +158766,6 @@ OMIM:602353 a owl:Class ; PMID:7929412, PMID:9032249, PMID:9422762 ; - oboInOwl:hasDbXref UMLS:C1420710 ; oboInOwl:hasExactSynonym "TGFB1I1", "androgen receptor coactivator", "hic5", @@ -154278,7 +158773,9 @@ OMIM:602353 a owl:Class ; "transforming growth factor, beta-induced, 55-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7041 ; - skos:exactMatch HGNC_symbol:TGFB1I1 ; + skos:exactMatch UMLS:C1420710, + HGNC:11767, + HGNC_symbol:TGFB1I1 ; biolink:category biolink:Gene . OMIM:602354 a owl:Class ; @@ -154296,12 +158793,13 @@ OMIM:602354 a owl:Class ; PMID:9489702 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:617514 ; - oboInOwl:hasDbXref UMLS:C1425844 ; oboInOwl:hasExactSynonym "LAT", "linker for activation of t cells" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27040 ; - skos:exactMatch HGNC_symbol:LAT ; + skos:exactMatch UMLS:C1425844, + HGNC:18874, + HGNC_symbol:LAT ; biolink:category biolink:Gene . OMIM:602355 a owl:Class ; @@ -154334,12 +158832,13 @@ OMIM:602355 a owl:Class ; PMID:26456228, PMID:31942069, PMID:8837778 ; - oboInOwl:hasDbXref UMLS:C1336666 ; oboInOwl:hasExactSynonym "TRAF6", "tnf receptor-associated factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7189 ; - skos:exactMatch HGNC_symbol:TRAF6 ; + skos:exactMatch UMLS:C1336666, + HGNC:12036, + HGNC_symbol:TRAF6 ; biolink:category biolink:Gene . OMIM:602356 a owl:Class ; @@ -154350,12 +158849,13 @@ OMIM:602356 a owl:Class ; PMID:8663299, PMID:8999898, PMID:9177772 ; - oboInOwl:hasDbXref UMLS:C1420889 ; oboInOwl:hasExactSynonym "TRAF5", "tnf receptor-associated factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7188 ; - skos:exactMatch HGNC_symbol:TRAF5 ; + skos:exactMatch UMLS:C1420889, + HGNC:12035, + HGNC_symbol:TRAF5 ; biolink:category biolink:Gene . OMIM:602357 a owl:Class ; @@ -154370,15 +158870,16 @@ OMIM:602357 a owl:Class ; PMID:9405671 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:614493 ; - oboInOwl:hasDbXref UMLS:C1823857, - UMLS:C3281001 ; oboInOwl:hasExactSynonym "WIPF1", "was/wasl-interacting protein family, member 1", "wasp-interacting protein", "wiskott-aldrich syndrome protein-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7456 ; - skos:exactMatch HGNC_symbol:WIPF1 ; + skos:exactMatch UMLS:C1823857, + UMLS:C3281001, + HGNC:12736, + HGNC_symbol:WIPF1 ; biolink:category biolink:Gene . OMIM:602358 a owl:Class ; @@ -154415,7 +158916,6 @@ OMIM:602358 a owl:Class ; PMID:9491897 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:161400 ; - oboInOwl:hasDbXref UMLS:C1415500 ; oboInOwl:hasExactSynonym "HCRT", "hypocretin", "hypocretin 1", @@ -154426,7 +158926,9 @@ OMIM:602358 a owl:Class ; "preproorexin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3060 ; - skos:exactMatch HGNC_symbol:HCRT ; + skos:exactMatch UMLS:C1415500, + HGNC:4847, + HGNC_symbol:HCRT ; biolink:category biolink:Gene . OMIM:602359 a owl:Class ; @@ -154435,13 +158937,14 @@ OMIM:602359 a owl:Class ; PMID:12657675, PMID:17309881, PMID:9169143 ; - oboInOwl:hasDbXref UMLS:C1414874 ; oboInOwl:hasExactSynonym "FXYD1", "fxyd domain-containing ion transport regulator 1", "phospholemman" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5348 ; - skos:exactMatch HGNC_symbol:FXYD1 ; + skos:exactMatch UMLS:C1414874, + HGNC:4025, + HGNC_symbol:FXYD1 ; biolink:category biolink:Gene . OMIM:602360 a owl:Class ; @@ -154462,15 +158965,16 @@ OMIM:602360 a owl:Class ; PMID:9148748 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:134600 ; - oboInOwl:hasDbXref UMLS:C1414997, - UMLS:C2675179, - UMLS:C4551503 ; oboInOwl:hasExactSynonym "GATM", "agat", "l-arginine:glycine amidinotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2628 ; - skos:exactMatch HGNC_symbol:GATM ; + skos:exactMatch UMLS:C1414997, + UMLS:C2675179, + UMLS:C4551503, + HGNC:4175, + HGNC_symbol:GATM ; biolink:category biolink:Gene . OMIM:602361 a owl:Class ; @@ -154488,13 +158992,13 @@ OMIM:602361 a owl:Class ; PMID:7837254, PMID:9450865, PMID:9511974 ; - oboInOwl:hasDbXref UMLS:C1865639 ; oboInOwl:hasExactSynonym "GCLEB", "gracile bone dysplasia", "habrodysplasia", "osteocraniosplenic syndrome", "osteocraniostenosis", "skeletal dysplasia, lethal, with gracile bones" ; + skos:exactMatch UMLS:C1865639 ; biolink:category biolink:Disease . OMIM:602362 a owl:Class ; @@ -154507,13 +159011,14 @@ OMIM:602362 a owl:Class ; PMID:8146159, PMID:8978815, PMID:9920803 ; - oboInOwl:hasDbXref UMLS:C1335589 ; oboInOwl:hasExactSynonym "RANGAP1", "gtpase-activating protein, ran, 1", "ran gtpase-activating protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5905 ; - skos:exactMatch HGNC_symbol:RANGAP1 ; + skos:exactMatch UMLS:C1335589, + HGNC:9854, + HGNC_symbol:RANGAP1 ; biolink:category biolink:Gene . OMIM:602363 a owl:Class ; @@ -154524,12 +159029,13 @@ OMIM:602364 a owl:Class ; rdfs:label "CTSW" ; IAO:0000142 PMID:9108299, PMID:9675123 ; - oboInOwl:hasDbXref UMLS:C1413822 ; oboInOwl:hasExactSynonym "CTSW", "cathepsin w" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1521 ; - skos:exactMatch HGNC_symbol:CTSW ; + skos:exactMatch UMLS:C1413822, + HGNC:2546, + HGNC_symbol:CTSW ; biolink:category biolink:Gene . OMIM:602365 a owl:Class ; @@ -154554,13 +159060,14 @@ OMIM:602365 a owl:Class ; PMID:9624139 ; RO:0002525 CHR:9606chr11q14.2 ; RO:0003303 OMIM:170650 ; - oboInOwl:hasDbXref UMLS:C1413811 ; oboInOwl:hasExactSynonym "CTSC", "cathepsin c", "dipeptidyl peptidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1075 ; - skos:exactMatch HGNC_symbol:CTSC ; + skos:exactMatch UMLS:C1413811, + HGNC:2528, + HGNC_symbol:CTSC ; biolink:category biolink:Gene . OMIM:602366 a owl:Class ; @@ -154583,14 +159090,15 @@ OMIM:602366 a owl:Class ; PMID:23658024, PMID:8538749, PMID:9177792 ; - oboInOwl:hasDbXref UMLS:C1334128, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "ILK", "integrin-linked kinase", "p59" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3611 ; - skos:exactMatch HGNC_symbol:ILK ; + skos:exactMatch UMLS:C1334128, + UMLS:C2986382, + HGNC:6040, + HGNC_symbol:ILK ; biolink:category biolink:Gene . OMIM:602367 a owl:Class ; @@ -154598,14 +159106,15 @@ OMIM:602367 a owl:Class ; IAO:0000142 PMID:12895424, PMID:7695898, PMID:8884281 ; - oboInOwl:hasDbXref UMLS:C1417812 ; oboInOwl:hasExactSynonym "NPTX1", "neuronal pentraxin 1", "np 1", "pentraxin i, neuronal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4884 ; - skos:exactMatch HGNC_symbol:NPTX1 ; + skos:exactMatch UMLS:C1417812, + HGNC:7952, + HGNC_symbol:NPTX1 ; biolink:category biolink:Gene . OMIM:602368 a owl:Class ; @@ -154626,12 +159135,13 @@ OMIM:602368 a owl:Class ; PMID:9628817 ; RO:0002525 CHR:9606chr4q22.1-q22.2 ; RO:0003303 OMIM:616204 ; - oboInOwl:hasDbXref UMLS:C1415291 ; oboInOwl:hasExactSynonym "GRID2", "glutamate receptor, ionotropic, delta 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2895 ; - skos:exactMatch HGNC_symbol:GRID2 ; + skos:exactMatch UMLS:C1415291, + HGNC:4576, + HGNC_symbol:GRID2 ; biolink:category biolink:Gene . OMIM:602369 a owl:Class ; @@ -154646,7 +159156,6 @@ OMIM:602369 a owl:Class ; PMID:9371786, PMID:9446626, PMID:9600969 ; - oboInOwl:hasDbXref UMLS:C1413896 ; oboInOwl:hasExactSynonym "CCN1", "ccn family, member 1", "cellular communication network factor 1", @@ -154655,19 +159164,22 @@ OMIM:602369 a owl:Class ; "insulin-like growth factor-binding protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3491 ; - skos:exactMatch HGNC_symbol:CCN1 ; + skos:exactMatch UMLS:C1413896, + HGNC:2654, + HGNC_symbol:CCN1 ; biolink:category biolink:Gene . OMIM:602370 a owl:Class ; rdfs:label "GML" ; IAO:0000142 PMID:8934543, PMID:9169150 ; - oboInOwl:hasDbXref UMLS:C1415134 ; oboInOwl:hasExactSynonym "GML", "glycosylphosphatidylinositol-anchored molecule-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2765 ; - skos:exactMatch HGNC_symbol:GML ; + skos:exactMatch UMLS:C1415134, + HGNC:4375, + HGNC_symbol:GML ; biolink:category biolink:Gene . OMIM:602371 a owl:Class ; @@ -154675,14 +159187,15 @@ OMIM:602371 a owl:Class ; IAO:0000142 PMID:17762044, PMID:8663269, PMID:9177793 ; - oboInOwl:hasDbXref UMLS:C1414519 ; oboInOwl:hasExactSynonym "ACSL3", "acyl-coa synthetase 3", "acyl-coa synthetase long chain family, member 3", "fatty acid coa ligase, long chain 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2181 ; - skos:exactMatch HGNC_symbol:ACSL3 ; + skos:exactMatch UMLS:C1414519, + HGNC:3570, + HGNC_symbol:ACSL3 ; biolink:category biolink:Gene . OMIM:602372 a owl:Class ; @@ -154691,38 +159204,41 @@ OMIM:602372 a owl:Class ; PMID:17033959, PMID:9126492, PMID:9748153 ; - oboInOwl:hasDbXref UMLS:C1421566 ; oboInOwl:hasExactSynonym "ZAN", "zonadhesin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7455 ; - skos:exactMatch HGNC_symbol:ZAN ; + skos:exactMatch UMLS:C1421566, + HGNC:12857, + HGNC_symbol:ZAN ; biolink:category biolink:Gene . OMIM:602373 a owl:Class ; rdfs:label "CNN2" ; IAO:0000142 PMID:7829105, PMID:8889829 ; - oboInOwl:hasDbXref UMLS:C1413551 ; oboInOwl:hasExactSynonym "CNN2", "calponin 2", "calponin h2, mouse, homolog of", "calponin, neutral, non-smooth muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1265 ; - skos:exactMatch HGNC_symbol:CNN2 ; + skos:exactMatch UMLS:C1413551, + HGNC:2156, + HGNC_symbol:CNN2 ; biolink:category biolink:Gene . OMIM:602374 a owl:Class ; rdfs:label "CNN3" ; IAO:0000142 PMID:8526917 ; - oboInOwl:hasDbXref UMLS:C1413552 ; oboInOwl:hasExactSynonym "CNN3", "calponin 3", "calponin, acidic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1266 ; - skos:exactMatch HGNC_symbol:CNN3 ; + skos:exactMatch UMLS:C1413552, + HGNC:2157, + HGNC_symbol:CNN3 ; biolink:category biolink:Gene . OMIM:602375 a owl:Class ; @@ -154732,15 +159248,16 @@ OMIM:602375 a owl:Class ; PMID:9169145 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:618951 ; - oboInOwl:hasDbXref UMLS:C1419694, - UMLS:C5436461 ; oboInOwl:hasExactSynonym "MRPL12", "l12 ribosomal protein, bacteria, homolog of", "mitochondrial ribosomal protein l12", "ribosomal protein, mitochondrial, l12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6182 ; - skos:exactMatch HGNC_symbol:MRPL12 ; + skos:exactMatch UMLS:C1419694, + UMLS:C5436461, + HGNC:10378, + HGNC_symbol:MRPL12 ; biolink:category biolink:Gene . OMIM:602376 a owl:Class ; @@ -154757,14 +159274,15 @@ OMIM:602376 a owl:Class ; PMID:8969169 ; RO:0002525 CHR:9606chr21q22.11 ; RO:0003303 OMIM:610424 ; - oboInOwl:hasDbXref UMLS:C1334082, - UMLS:C1864880, - UMLS:C4225252 ; oboInOwl:hasExactSynonym "IFNAR2", "interferon-alpha, -beta, and -omega receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3455 ; - skos:exactMatch HGNC_symbol:IFNAR2 ; + skos:exactMatch UMLS:C1334082, + UMLS:C1864880, + UMLS:C4225252, + HGNC:5433, + HGNC_symbol:IFNAR2 ; biolink:category biolink:Gene . OMIM:602377 a owl:Class ; @@ -154787,13 +159305,14 @@ OMIM:602377 a owl:Class ; PMID:9635431 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:616346 ; - oboInOwl:hasDbXref UMLS:C1414118, - UMLS:C4225357 ; oboInOwl:hasExactSynonym "DNM1", "dynamin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1759 ; - skos:exactMatch HGNC_symbol:DNM1 ; + skos:exactMatch UMLS:C1414118, + UMLS:C4225357, + HGNC:2972, + HGNC_symbol:DNM1 ; biolink:category biolink:Gene . OMIM:602378 a owl:Class ; @@ -154816,16 +159335,17 @@ OMIM:602378 a owl:Class ; PMID:9143510 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:615368 ; - oboInOwl:hasDbXref UMLS:C1414120, - UMLS:C1847902, - UMLS:C3809272, - UMLS:C4551952 ; oboInOwl:hasExactSynonym "DNM2", "dyn2", "dynamin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1785 ; - skos:exactMatch HGNC_symbol:DNM2 ; + skos:exactMatch UMLS:C1414120, + UMLS:C1847902, + UMLS:C3809272, + UMLS:C4551952, + HGNC:2974, + HGNC_symbol:DNM2 ; biolink:category biolink:Gene . OMIM:602379 a owl:Class ; @@ -154840,12 +159360,13 @@ OMIM:602380 a owl:Class ; PMID:9073521, PMID:9818021, PMID:9846985 ; - oboInOwl:hasDbXref UMLS:C1421365 ; oboInOwl:hasExactSynonym "UPK1B", "uroplakin 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7348 ; - skos:exactMatch HGNC_symbol:UPK1B ; + skos:exactMatch UMLS:C1421365, + HGNC:12578, + HGNC_symbol:UPK1B ; biolink:category biolink:Gene . OMIM:602381 a owl:Class ; @@ -154855,14 +159376,15 @@ OMIM:602381 a owl:Class ; PMID:23313954, PMID:8668170, PMID:9126479 ; - oboInOwl:hasDbXref UMLS:C1417589 ; oboInOwl:hasExactSynonym "NAB2", "egr1-binding protein 2", "nab2/stat6 fusion gene", "ngfia-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4665 ; - skos:exactMatch HGNC_symbol:NAB2 ; + skos:exactMatch UMLS:C1417589, + HGNC:7627, + HGNC_symbol:NAB2 ; biolink:category biolink:Gene . OMIM:602382 a owl:Class ; @@ -154879,12 +159401,13 @@ OMIM:602382 a owl:Class ; PMID:9920915 ; RO:0002525 CHR:9606chr3q26.31 ; RO:0003303 OMIM:212093 ; - oboInOwl:hasDbXref UMLS:C1418641 ; oboInOwl:hasExactSynonym "PLD1", "phospholipase d1, phosphatidylcholine-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5337 ; - skos:exactMatch HGNC_symbol:PLD1 ; + skos:exactMatch UMLS:C1418641, + HGNC:9067, + HGNC_symbol:PLD1 ; biolink:category biolink:Gene . OMIM:602383 a owl:Class ; @@ -154895,14 +159418,15 @@ OMIM:602383 a owl:Class ; PMID:18443592, PMID:22351757, PMID:2372374 ; - oboInOwl:hasDbXref UMLS:C1417944 ; oboInOwl:hasExactSynonym "OGN", "mimecan", "osteoglycin", "osteoinductive factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4969 ; - skos:exactMatch HGNC_symbol:OGN ; + skos:exactMatch UMLS:C1417944, + HGNC:8126, + HGNC_symbol:OGN ; biolink:category biolink:Gene . OMIM:602384 a owl:Class ; @@ -154911,12 +159435,13 @@ OMIM:602384 a owl:Class ; PMID:9307024, PMID:9582313, PMID:9858823 ; - oboInOwl:hasDbXref UMLS:C1418642 ; oboInOwl:hasExactSynonym "PLD2", "phospholipase d2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5338 ; - skos:exactMatch HGNC_symbol:PLD2 ; + skos:exactMatch UMLS:C1418642, + HGNC:9068, + HGNC_symbol:PLD2 ; biolink:category biolink:Gene . OMIM:602385 a owl:Class ; @@ -154924,38 +159449,41 @@ OMIM:602385 a owl:Class ; IAO:0000142 PMID:10783263, PMID:9169148, PMID:9852044 ; - oboInOwl:hasDbXref UMLS:C1420517 ; oboInOwl:hasExactSynonym "SULT1C2", "sulfotransferase 1c1, formerly", "sulfotransferase family 1c, member 1, formerly", "sulfotransferase family 1c, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6819 ; - skos:exactMatch HGNC_symbol:SULT1C2 ; + skos:exactMatch UMLS:C1420517, + HGNC:11456, + HGNC_symbol:SULT1C2 ; biolink:category biolink:Gene . OMIM:602386 a owl:Class ; rdfs:label "ZNF212" ; IAO:0000142 PMID:9169157 ; - oboInOwl:hasDbXref UMLS:C1421700 ; oboInOwl:hasExactSynonym "ZNF212", "zinc finger protein 212", "zinc finger protein c2h2-150" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7988 ; - skos:exactMatch HGNC_symbol:ZNF212 ; + skos:exactMatch UMLS:C1421700, + HGNC:13004, + HGNC_symbol:ZNF212 ; biolink:category biolink:Gene . OMIM:602387 a owl:Class ; rdfs:label "RBMS2" ; IAO:0000142 PMID:8041632 ; - oboInOwl:hasDbXref UMLS:C1419307 ; oboInOwl:hasExactSynonym "RBMS2", "rna-binding motif protein, single strand-interacting, 2", "scr3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5939 ; - skos:exactMatch HGNC_symbol:RBMS2 ; + skos:exactMatch UMLS:C1419307, + HGNC:9909, + HGNC_symbol:RBMS2 ; biolink:category biolink:Gene . OMIM:602388 a owl:Class ; @@ -154965,13 +159493,14 @@ OMIM:602388 a owl:Class ; PMID:8769423, PMID:9330635, PMID:9585442 ; - oboInOwl:hasDbXref UMLS:C1427791 ; oboInOwl:hasExactSynonym "SYMPK", "spk", "symplekin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8189 ; - skos:exactMatch HGNC_symbol:SYMPK ; + skos:exactMatch UMLS:C1427791, + HGNC:22935, + HGNC_symbol:SYMPK ; biolink:category biolink:Gene . OMIM:602389 a owl:Class ; @@ -154986,7 +159515,6 @@ OMIM:602389 a owl:Class ; PMID:9545647 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:610678 ; - oboInOwl:hasDbXref UMLS:C1421238 ; oboInOwl:hasExactSynonym "TUFM", "ef-tu, mitochondrial", "ef-tumt", @@ -154994,7 +159522,9 @@ OMIM:602389 a owl:Class ; "tu translation elongation factor, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7284 ; - skos:exactMatch HGNC_symbol:TUFM ; + skos:exactMatch UMLS:C1421238, + HGNC:12420, + HGNC_symbol:TUFM ; biolink:category biolink:Gene . OMIM:602391 a owl:Class ; @@ -155004,8 +159534,6 @@ OMIM:602391 a owl:Class ; PMID:8978486, PMID:9371769, PMID:9989271 ; - oboInOwl:hasDbXref UMLS:C1418456, - UMLS:C4017667 ; oboInOwl:hasExactSynonym "PEMT", "pempt", "pemt1", @@ -155013,21 +159541,25 @@ OMIM:602391 a owl:Class ; "phosphatidylethanolamine n-methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10400 ; - skos:exactMatch HGNC_symbol:PEMT ; + skos:exactMatch UMLS:C1418456, + UMLS:C4017667, + HGNC:8830, + HGNC_symbol:PEMT ; biolink:category biolink:Gene . OMIM:602392 a owl:Class ; rdfs:label "HCRTR1" ; IAO:0000142 PMID:18006690, PMID:9491897 ; - oboInOwl:hasDbXref UMLS:C1415501 ; oboInOwl:hasExactSynonym "HCRTR1", "hypocretin receptor 1", "orexin 1 receptor", "orexin a receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3061 ; - skos:exactMatch HGNC_symbol:HCRTR1 ; + skos:exactMatch UMLS:C1415501, + HGNC:4848, + HGNC_symbol:HCRTR1 ; biolink:category biolink:Gene . OMIM:602393 a owl:Class ; @@ -155041,7 +159573,6 @@ OMIM:602393 a owl:Class ; PMID:16801656, PMID:9491897, PMID:9878239 ; - oboInOwl:hasDbXref UMLS:C1415502 ; oboInOwl:hasExactSynonym "HCRTR2", "hypocretin receptor 2", "orexin 2 receptor", @@ -155049,7 +159580,9 @@ OMIM:602393 a owl:Class ; "orexin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3062 ; - skos:exactMatch HGNC_symbol:HCRTR2 ; + skos:exactMatch UMLS:C1415502, + HGNC:4849, + HGNC_symbol:HCRTR2 ; biolink:category biolink:Gene . OMIM:602394 a owl:Class ; @@ -155058,14 +159591,15 @@ OMIM:602394 a owl:Class ; PMID:19129172, PMID:26399832, PMID:7657714 ; - oboInOwl:hasDbXref UMLS:C1423614 ; oboInOwl:hasExactSynonym "NOLC1", "nopp140", "nucleolar and coiled-body phosphoprotein 1", "nucleolar protein, 130-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9221 ; - skos:exactMatch HGNC_symbol:NOLC1 ; + skos:exactMatch UMLS:C1423614, + HGNC:15608, + HGNC_symbol:NOLC1 ; biolink:category biolink:Gene . OMIM:602395 a owl:Class ; @@ -155075,14 +159609,15 @@ OMIM:602395 a owl:Class ; PMID:7836409, PMID:8369314, PMID:9434961 ; - oboInOwl:hasDbXref UMLS:C1539593 ; oboInOwl:hasExactSynonym "GPAM", "glycerol-3-phosphate acyltransferase, mitochondrial", "gpat, mitochondrial", "gpat1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57678 ; - skos:exactMatch HGNC_symbol:GPAM ; + skos:exactMatch UMLS:C1539593, + HGNC:24865, + HGNC_symbol:GPAM ; biolink:category biolink:Gene . OMIM:602396 a owl:Class ; @@ -155093,13 +159628,14 @@ OMIM:602396 a owl:Class ; PMID:8018923, PMID:9434938, PMID:9864177 ; - oboInOwl:hasDbXref UMLS:C1332096 ; oboInOwl:hasExactSynonym "ANXA8", "annexin 8", "annexin a8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653145 ; - skos:exactMatch HGNC_symbol:ANXA8 ; + skos:exactMatch UMLS:C1332096, + HGNC:546, + HGNC_symbol:ANXA8 ; biolink:category biolink:Gene . OMIM:602397 a owl:Class ; @@ -155119,13 +159655,14 @@ OMIM:602397 a owl:Class ; PMID:9918928 ; RO:0002525 CHR:9606chr18q21.31 ; RO:0003303 OMIM:211600 ; - oboInOwl:hasDbXref UMLS:C1414614 ; oboInOwl:hasExactSynonym "ATP8B1", "atpase, class i, iia 8b, member 1", "fic gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5205 ; - skos:exactMatch HGNC_symbol:ATP8B1 ; + skos:exactMatch UMLS:C1414614, + HGNC:3706, + HGNC_symbol:ATP8B1 ; biolink:category biolink:Gene . OMIM:602399 a owl:Class ; @@ -155134,7 +159671,6 @@ OMIM:602399 a owl:Class ; PMID:8633070, PMID:8920915, PMID:9169156 ; - oboInOwl:hasDbXref UMLS:C1366897 ; oboInOwl:hasExactSynonym "MAPK12", "extracellular signal-regulated kinase 6", "mitogen-activated protein kinase 12", @@ -155142,7 +159678,9 @@ OMIM:602399 a owl:Class ; "stress-activated protein kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6300 ; - skos:exactMatch HGNC_symbol:MAPK12 ; + skos:exactMatch UMLS:C1366897, + HGNC:6874, + HGNC_symbol:MAPK12 ; biolink:category biolink:Gene . OMIM:602402 a owl:Class ; @@ -155180,14 +159718,15 @@ OMIM:602402 a owl:Class ; PMID:9409679 ; RO:0002525 CHR:9606chr16q24.1 ; RO:0003303 OMIM:153400 ; - oboInOwl:hasDbXref UMLS:C1414669 ; oboInOwl:hasExactSynonym "FOXC2", "forkhead box c2", "forkhead, drosophila, homolog-like 14", "mesenchyme forkhead 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2303 ; - skos:exactMatch HGNC_symbol:FOXC2 ; + skos:exactMatch UMLS:C1414669, + HGNC:3801, + HGNC_symbol:FOXC2 ; biolink:category biolink:Gene . OMIM:602403 a owl:Class ; @@ -155203,13 +159742,14 @@ OMIM:602403 a owl:Class ; PMID:9500538, PMID:9546396, PMID:9818937 ; - oboInOwl:hasDbXref UMLS:C1412800 ; oboInOwl:hasExactSynonym "BLMH", "bleomycin hydrolase", "bmh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642 ; - skos:exactMatch HGNC_symbol:BLMH ; + skos:exactMatch UMLS:C1412800, + HGNC:1059, + HGNC_symbol:BLMH ; biolink:category biolink:Gene . OMIM:602405 a owl:Class ; @@ -155227,14 +159767,15 @@ OMIM:602406 a owl:Class ; PMID:9500550, PMID:9500551, PMID:9931445 ; - oboInOwl:hasDbXref UMLS:C1415466 ; oboInOwl:hasExactSynonym "HAND1", "ehand", "heart- and neural crest derivatives-expressed 1", "hlh transcription factor hand1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9421 ; - skos:exactMatch HGNC_symbol:HAND1 ; + skos:exactMatch UMLS:C1415466, + HGNC:4807, + HGNC_symbol:HAND1 ; biolink:category biolink:Gene . OMIM:602407 a owl:Class ; @@ -155253,7 +159794,6 @@ OMIM:602407 a owl:Class ; PMID:31341279, PMID:9171826, PMID:9878849 ; - oboInOwl:hasDbXref UMLS:C1415467 ; oboInOwl:hasExactSynonym "HAND2", "deciduum, heart, autonomic nervous system, neural crest-derived", "dhand", @@ -155261,7 +159801,9 @@ OMIM:602407 a owl:Class ; "hlh transcription factor hand2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9464 ; - skos:exactMatch HGNC_symbol:HAND2 ; + skos:exactMatch UMLS:C1415467, + HGNC:4808, + HGNC_symbol:HAND2 ; biolink:category biolink:Gene . OMIM:602408 a owl:Class ; @@ -155289,7 +159831,6 @@ OMIM:602408 a owl:Class ; PMID:8344913, PMID:8622974, PMID:9660968 ; - oboInOwl:hasDbXref UMLS:C1417821 ; oboInOwl:hasExactSynonym "NR1D1", "erba-related 1", "nuclear receptor subfamily 1, group d, member 1", @@ -155298,7 +159839,9 @@ OMIM:602408 a owl:Class ; "thyroid hormone receptor, alpha-1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9572 ; - skos:exactMatch HGNC_symbol:NR1D1 ; + skos:exactMatch UMLS:C1417821, + HGNC:7962, + HGNC_symbol:NR1D1 ; biolink:category biolink:Gene . OMIM:602409 a owl:Class ; @@ -155310,7 +159853,6 @@ OMIM:602409 a owl:Class ; PMID:8896421 ; RO:0002525 CHR:9606chr10p12.31 ; RO:0003303 OMIM:601626 ; - oboInOwl:hasDbXref UMLS:C1423947 ; oboInOwl:hasExactSynonym "MLLT10", "af10/heab fusion gene", "af10/mll fusion gene", @@ -155319,7 +159861,9 @@ OMIM:602409 a owl:Class ; "myeloid/lymphoid or mixed lineage leukemia, translocated to, 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8028 ; - skos:exactMatch HGNC_symbol:MLLT10 ; + skos:exactMatch UMLS:C1423947, + HGNC:16063, + HGNC_symbol:MLLT10 ; biolink:category biolink:Gene . OMIM:602410 a owl:Class ; @@ -155333,14 +159877,15 @@ OMIM:602410 a owl:Class ; PMID:8946209 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:617333 ; - oboInOwl:hasDbXref UMLS:C1422516 ; oboInOwl:hasExactSynonym "BRPF1", "bromodomain- and phd finger-containing protein", "bromodomain-containing protein, 140-kd", "peregrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7862 ; - skos:exactMatch HGNC_symbol:BRPF1 ; + skos:exactMatch UMLS:C1422516, + HGNC:14255, + HGNC_symbol:BRPF1 ; biolink:category biolink:Gene . OMIM:602411 a owl:Class ; @@ -155348,7 +159893,6 @@ OMIM:602411 a owl:Class ; IAO:0000142 PMID:10965119, PMID:9450183, PMID:9473480 ; - oboInOwl:hasDbXref UMLS:C1333367 ; oboInOwl:hasExactSynonym "EXTL2", "exostosin-like 2", "exostosin-like glycosyltransferase 2", @@ -155356,7 +159900,9 @@ OMIM:602411 a owl:Class ; "multiple exostoses-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2135 ; - skos:exactMatch HGNC_symbol:EXTL2 ; + skos:exactMatch UMLS:C1333367, + HGNC:3516, + HGNC_symbol:EXTL2 ; biolink:category biolink:Gene . OMIM:602412 a owl:Class ; @@ -155371,12 +159917,13 @@ OMIM:602412 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr10q22.3 ; RO:0003303 OMIM:610629 ; - oboInOwl:hasDbXref UMLS:C1419725 ; oboInOwl:hasExactSynonym "RPS24", "ribosomal protein s24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6229 ; - skos:exactMatch HGNC_symbol:RPS24 ; + skos:exactMatch UMLS:C1419725, + HGNC:10411, + HGNC_symbol:RPS24 ; biolink:category biolink:Gene . OMIM:602415 a owl:Class ; @@ -155384,26 +159931,28 @@ OMIM:602415 a owl:Class ; IAO:0000142 PMID:9395493, PMID:9419360, PMID:9799833 ; - oboInOwl:hasDbXref UMLS:C1414177 ; oboInOwl:hasExactSynonym "DTNB", "dystrobrevin, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1838 ; - skos:exactMatch HGNC_symbol:DTNB ; + skos:exactMatch UMLS:C1414177, + HGNC:3058, + HGNC_symbol:DTNB ; biolink:category biolink:Gene . OMIM:602416 a owl:Class ; rdfs:label "AP3S2" ; IAO:0000142 PMID:15469849, PMID:9118953 ; - oboInOwl:hasDbXref UMLS:C1412451 ; oboInOwl:hasExactSynonym "AP3S2", "adaptor-related protein complex 3, sigma-2 subunit", "clathrin adaptor complex ap3, sigma-3b subunit", "clathrin-associated/assembly/adaptor protein, small 4, 22-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10239 ; - skos:exactMatch HGNC_symbol:AP3S2 ; + skos:exactMatch UMLS:C1412451, + HGNC:571, + HGNC_symbol:AP3S2 ; biolink:category biolink:Gene . OMIM:602417 a owl:Class ; @@ -155420,8 +159969,8 @@ OMIM:602418 a owl:Class ; PMID:3895927, PMID:4644462, PMID:8326504 ; - oboInOwl:hasDbXref UMLS:C1865566 ; - oboInOwl:hasExactSynonym "weyers ulnar ray/oligodactyly syndrome" . + oboInOwl:hasExactSynonym "weyers ulnar ray/oligodactyly syndrome" ; + skos:exactMatch UMLS:C1865566 . OMIM:602419 a owl:Class ; rdfs:label "EGR3" ; @@ -155430,24 +159979,26 @@ OMIM:602419 a owl:Class ; PMID:7605073, PMID:9488654, PMID:9731539 ; - oboInOwl:hasDbXref UMLS:C1414316 ; oboInOwl:hasExactSynonym "EGR3", "early growth response 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1960 ; - skos:exactMatch HGNC_symbol:EGR3 ; + skos:exactMatch UMLS:C1414316, + HGNC:3240, + HGNC_symbol:EGR3 ; biolink:category biolink:Gene . OMIM:602420 a owl:Class ; rdfs:label "KCNA10" ; IAO:0000142 PMID:2305265, PMID:9177773 ; - oboInOwl:hasDbXref UMLS:C1416544 ; oboInOwl:hasExactSynonym "KCNA10", "potassium channel, voltage-gated, shaker-related subfamily, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3744 ; - skos:exactMatch HGNC_symbol:KCNA10 ; + skos:exactMatch UMLS:C1416544, + HGNC:6219, + HGNC_symbol:KCNA10 ; biolink:category biolink:Gene . OMIM:602421 a owl:Class ; @@ -155733,13 +160284,14 @@ OMIM:602421 a owl:Class ; PMID:9931011 ; RO:0002525 CHR:9606chr7q31.2 ; RO:0003303 OMIM:167800 ; - oboInOwl:hasDbXref UMLS:C1413365 ; oboInOwl:hasExactSynonym "CFTR", "atp-binding cassette, subfamily c, member 7", "cystic fibrosis transmembrane conductance regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1080 ; - skos:exactMatch HGNC_symbol:CFTR ; + skos:exactMatch UMLS:C1413365, + HGNC:1884, + HGNC_symbol:CFTR ; biolink:category biolink:Gene . OMIM:602422 a owl:Class ; @@ -155747,13 +160299,14 @@ OMIM:602422 a owl:Class ; IAO:0000142 PMID:23329046, PMID:8957003, PMID:9049306 ; - oboInOwl:hasDbXref UMLS:C1420085 ; oboInOwl:hasExactSynonym "SLBP", "hairpin binding protein, histone", "stem-loop binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7884 ; - skos:exactMatch HGNC_symbol:SLBP ; + skos:exactMatch UMLS:C1420085, + HGNC:10904, + HGNC_symbol:SLBP ; biolink:category biolink:Gene . OMIM:602423 a owl:Class ; @@ -155778,14 +160331,15 @@ OMIM:602423 a owl:Class ; PMID:24794974, PMID:7744246, PMID:9630215 ; - oboInOwl:hasDbXref UMLS:C1417824 ; oboInOwl:hasExactSynonym "NR1H3", "liver 10 receptor, alpha", "lx receptor, alpha", "nuclear receptor subfamily 1, group h, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10062 ; - skos:exactMatch HGNC_symbol:NR1H3 ; + skos:exactMatch UMLS:C1417824, + HGNC:7966, + HGNC_symbol:NR1H3 ; biolink:category biolink:Gene . OMIM:602424 a owl:Class ; @@ -155807,13 +160361,14 @@ OMIM:602424 a owl:Class ; PMID:3046751, PMID:8440242, PMID:9490411 ; - oboInOwl:hasDbXref UMLS:C1414086 ; oboInOwl:hasExactSynonym "DMRT1", "dm-domain gene expressed 1n testis", "doublesex- and mab3-related transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1761 ; - skos:exactMatch HGNC_symbol:DMRT1 ; + skos:exactMatch UMLS:C1414086, + HGNC:2934, + HGNC_symbol:DMRT1 ; biolink:category biolink:Gene . OMIM:602425 a owl:Class ; @@ -155823,7 +160378,6 @@ OMIM:602425 a owl:Class ; PMID:24452333, PMID:9039502, PMID:9305639 ; - oboInOwl:hasDbXref UMLS:C1456388 ; oboInOwl:hasExactSynonym "MAP3K4", "kiaa0213", "map three kinase 1", @@ -155833,19 +160387,22 @@ OMIM:602425 a owl:Class ; "ssk2/ssk22 map kinase kinase kinase, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4216 ; - skos:exactMatch HGNC_symbol:MAP3K4 ; + skos:exactMatch UMLS:C1456388, + HGNC:6856, + HGNC_symbol:MAP3K4 ; biolink:category biolink:Gene . OMIM:602426 a owl:Class ; rdfs:label "NVL" ; IAO:0000142 PMID:9286697 ; - oboInOwl:hasDbXref UMLS:C1417897 ; oboInOwl:hasExactSynonym "NVL", "nuclear valosin-containing protein-like", "nuclear vcp-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4931 ; - skos:exactMatch HGNC_symbol:NVL ; + skos:exactMatch UMLS:C1417897, + HGNC:8070, + HGNC_symbol:NVL ; biolink:category biolink:Gene . OMIM:602427 a owl:Class ; @@ -155862,14 +160419,15 @@ OMIM:602427 a owl:Class ; PMID:9933572 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:122600 ; - oboInOwl:hasDbXref UMLS:C1420616, - UMLS:C4083048 ; oboInOwl:hasExactSynonym "TBX6", "t-box 6", "t-box transcription factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6911 ; - skos:exactMatch HGNC_symbol:TBX6 ; + skos:exactMatch UMLS:C1420616, + UMLS:C4083048, + HGNC:11605, + HGNC_symbol:TBX6 ; biolink:category biolink:Gene . OMIM:602428 a owl:Class ; @@ -155877,12 +160435,13 @@ OMIM:602428 a owl:Class ; IAO:0000142 PMID:12757764, PMID:9083017, PMID:9169154 ; - oboInOwl:hasDbXref UMLS:C1415476 ; oboInOwl:hasExactSynonym "HAS3", "hyaluronan synthase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3038 ; - skos:exactMatch HGNC_symbol:HAS3 ; + skos:exactMatch UMLS:C1415476, + HGNC:4820, + HGNC_symbol:HAS3 ; biolink:category biolink:Gene . OMIM:602430 a owl:Class ; @@ -155898,7 +160457,6 @@ OMIM:602430 a owl:Class ; PMID:9458045, PMID:9458046, PMID:9796701 ; - oboInOwl:hasDbXref UMLS:C1419596 ; oboInOwl:hasExactSynonym "ROBO1", "deleted 1n u twenty twenty", "roundabout guidance receptor 1", @@ -155906,7 +160464,9 @@ OMIM:602430 a owl:Class ; "sax3, c. elegans, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6091 ; - skos:exactMatch HGNC_symbol:ROBO1 ; + skos:exactMatch UMLS:C1419596, + HGNC:10249, + HGNC_symbol:ROBO1 ; biolink:category biolink:Gene . OMIM:602431 a owl:Class ; @@ -155923,7 +160483,6 @@ OMIM:602431 a owl:Class ; PMID:9458045 ; RO:0002525 CHR:9606chr3p12.3 ; RO:0003303 OMIM:610878 ; - oboInOwl:hasDbXref UMLS:C1419597 ; oboInOwl:hasExactSynonym "ROBO2", "kiaa1568", "roundabout guidance receptor 2", @@ -155931,7 +160490,9 @@ OMIM:602431 a owl:Class ; "sax3, c. elegans, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6092 ; - skos:exactMatch HGNC_symbol:ROBO2 ; + skos:exactMatch UMLS:C1419597, + HGNC:10250, + HGNC_symbol:ROBO2 ; biolink:category biolink:Gene . OMIM:602432 a owl:Class ; @@ -155961,7 +160522,6 @@ OMIM:602432 a owl:Class ; PMID:9700202 ; RO:0002525 CHR:9606chr10p13 ; RO:0003303 OMIM:606657 ; - oboInOwl:hasDbXref UMLS:C1424774 ; oboInOwl:hasExactSynonym "14.7k-interacting protein", "OPTN", "glc1e gene", @@ -155972,7 +160532,9 @@ OMIM:602432 a owl:Class ; "transcription factor iiia-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10133 ; - skos:exactMatch HGNC_symbol:OPTN ; + skos:exactMatch UMLS:C1424774, + HGNC:17142, + HGNC_symbol:OPTN ; biolink:category biolink:Gene . OMIM:602433 a owl:Class ; @@ -155983,11 +160545,11 @@ OMIM:602433 a owl:Class ; PMID:14236005, PMID:15106121, PMID:9497266 ; - oboInOwl:hasDbXref UMLS:C1865409 ; oboInOwl:hasExactSynonym "ALS4", "amyotrophic lateral sclerosis 4, juvenile", "neuronopathy, distal hereditary motor, with pyramidal features" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C1865409 ; biolink:category biolink:Disease . OMIM:602434 a owl:Class ; @@ -155995,26 +160557,28 @@ OMIM:602434 a owl:Class ; IAO:0000142 PMID:18711132, PMID:21127063, PMID:8812468 ; - oboInOwl:hasDbXref UMLS:C1412699 ; oboInOwl:hasExactSynonym "AUP1", "ancient ubiquitous protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:550 ; - skos:exactMatch HGNC_symbol:AUP1 ; + skos:exactMatch UMLS:C1412699, + HGNC:891, + HGNC_symbol:AUP1 ; biolink:category biolink:Gene . OMIM:602435 a owl:Class ; rdfs:label "PPIE" ; IAO:0000142 PMID:8977107, PMID:9747881 ; - oboInOwl:hasDbXref UMLS:C1418798 ; oboInOwl:hasExactSynonym "PPIE", "cyclophilin e", "cyclophilin, 33-kd", "peptidyl-prolyl isomerase e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10450 ; - skos:exactMatch HGNC_symbol:PPIE ; + skos:exactMatch UMLS:C1418798, + HGNC:9258, + HGNC_symbol:PPIE ; biolink:category biolink:Gene . OMIM:602436 a owl:Class ; @@ -156028,24 +160592,26 @@ OMIM:602436 a owl:Class ; PMID:8824804, PMID:8901601, PMID:9497295 ; - oboInOwl:hasDbXref UMLS:C1417163 ; oboInOwl:hasExactSynonym "MICB", "major histocompatibility complex class 1 chain-related gene B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4277 ; - skos:exactMatch HGNC_symbol:MICB ; + skos:exactMatch UMLS:C1417163, + HGNC:7091, + HGNC_symbol:MICB ; biolink:category biolink:Gene . OMIM:602437 a owl:Class ; rdfs:label "GCHFR" ; IAO:0000142 PMID:8702680 ; - oboInOwl:hasDbXref UMLS:C1415013 ; oboInOwl:hasExactSynonym "GCHFR", "gfrp", "gtp cyclohydrolase 1 feedback regulatory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2644 ; - skos:exactMatch HGNC_symbol:GCHFR ; + skos:exactMatch UMLS:C1415013, + HGNC:4194, + HGNC_symbol:GCHFR ; biolink:category biolink:Gene . OMIM:602438 a owl:Class ; @@ -156057,12 +160623,13 @@ OMIM:602438 a owl:Class ; PMID:8972228 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:116800 ; - oboInOwl:hasDbXref UMLS:C1415752 ; oboInOwl:hasExactSynonym "HSF4", "heat-shock transcription factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3299 ; - skos:exactMatch HGNC_symbol:HSF4 ; + skos:exactMatch UMLS:C1415752, + HGNC:5227, + HGNC_symbol:HSF4 ; biolink:category biolink:Gene . OMIM:602439 a owl:Class ; @@ -156083,10 +160650,10 @@ OMIM:602440 a owl:Class ; PMID:4674765, PMID:727722, PMID:8880702 ; - oboInOwl:hasDbXref UMLS:C1865384 ; oboInOwl:hasExactSynonym "amyotrophy, monomelic", "hirayama disease", "spinal muscular atrophy, juvenile, nonprogressive" ; + skos:exactMatch UMLS:C1865384 ; biolink:category biolink:Disease . OMIM:602441 a owl:Class ; @@ -156097,13 +160664,14 @@ OMIM:602441 a owl:Class ; PMID:9465889 ; RO:0002525 CHR:9606chr3p21.2 ; RO:0003303 OMIM:607948 ; - oboInOwl:hasDbXref UMLS:C1332762 ; oboInOwl:hasExactSynonym "CISH", "cis", "cytokine-inducible sh2-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1154 ; - skos:exactMatch HGNC_symbol:CISH ; + skos:exactMatch UMLS:C1332762, + HGNC:1984, + HGNC_symbol:CISH ; biolink:category biolink:Gene . OMIM:602442 a owl:Class ; @@ -156115,7 +160683,6 @@ OMIM:602442 a owl:Class ; PMID:17380208, PMID:9465890, PMID:9630982 ; - oboInOwl:hasDbXref UMLS:C1416520 ; oboInOwl:hasExactSynonym "ITSN1", "intersectin 1", "itsn", @@ -156124,7 +160691,9 @@ OMIM:602442 a owl:Class ; "src homology 3 domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6453 ; - skos:exactMatch HGNC_symbol:ITSN1 ; + skos:exactMatch UMLS:C1416520, + HGNC:6183, + HGNC_symbol:ITSN1 ; biolink:category biolink:Gene . OMIM:602443 a owl:Class ; @@ -156137,7 +160706,6 @@ OMIM:602443 a owl:Class ; PMID:3141711, PMID:7744038, PMID:9465902 ; - oboInOwl:hasDbXref UMLS:C1421542 ; oboInOwl:hasExactSynonym "XPNPEP1", "aminopeptidase p, cytosolic", "aminopeptidase p, soluble", @@ -156147,7 +160715,9 @@ OMIM:602443 a owl:Class ; "x-prolyl aminopeptidase-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7511 ; - skos:exactMatch HGNC_symbol:XPNPEP1 ; + skos:exactMatch UMLS:C1421542, + HGNC:12822, + HGNC_symbol:XPNPEP1 ; biolink:category biolink:Gene . OMIM:602444 a owl:Class ; @@ -156155,14 +160725,15 @@ OMIM:602444 a owl:Class ; IAO:0000142 PMID:7590745, PMID:8382778, PMID:9465904 ; - oboInOwl:hasDbXref UMLS:C1420634 ; oboInOwl:hasExactSynonym "ZNF354A", "kid1, rat, homolog of", "transcription factor 17", "zinc finger protein 354a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6940 ; - skos:exactMatch HGNC_symbol:ZNF354A ; + skos:exactMatch UMLS:C1420634, + HGNC:11628, + HGNC_symbol:ZNF354A ; biolink:category biolink:Gene . OMIM:602445 a owl:Class ; @@ -156178,14 +160749,15 @@ OMIM:602445 a owl:Class ; PMID:9070919 ; RO:0002525 CHR:9606chr3q26.1 ; RO:0003303 OMIM:604218 ; - oboInOwl:hasDbXref UMLS:C1418546 ; oboInOwl:hasExactSynonym "SERPINI1", "neuroserpin", "protease inhibitor 12", "serine protease inhibitor, clade i, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5274 ; - skos:exactMatch HGNC_symbol:SERPINI1 ; + skos:exactMatch UMLS:C1418546, + HGNC:8943, + HGNC_symbol:SERPINI1 ; biolink:category biolink:Gene . OMIM:602446 a owl:Class ; @@ -156195,12 +160767,13 @@ OMIM:602446 a owl:Class ; PMID:12721791, PMID:9070915, PMID:9588877 ; - oboInOwl:hasDbXref UMLS:C1415197 ; oboInOwl:hasExactSynonym "GPC5", "glypican 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2262 ; - skos:exactMatch HGNC_symbol:GPC5 ; + skos:exactMatch UMLS:C1415197, + HGNC:4453, + HGNC_symbol:GPC5 ; biolink:category biolink:Gene . OMIM:602447 a owl:Class ; @@ -156213,13 +160786,14 @@ OMIM:602447 a owl:Class ; PMID:9443862, PMID:9714608 ; RO:0002525 CHR:9606chr7q21.3 ; - oboInOwl:hasDbXref UMLS:C1418755, - UMLS:C4016795 ; oboInOwl:hasExactSynonym "PON2", "paraoxonase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5445 ; - skos:exactMatch HGNC_symbol:PON2 ; + skos:exactMatch UMLS:C1418755, + UMLS:C4016795, + HGNC:9205, + HGNC_symbol:PON2 ; biolink:category biolink:Gene . OMIM:602448 a owl:Class ; @@ -156241,7 +160815,6 @@ OMIM:602448 a owl:Class ; PMID:9564042, PMID:9743501, PMID:9774977 ; - oboInOwl:hasDbXref UMLS:C1417014 ; oboInOwl:hasExactSynonym "MAP3K5", "apoptosis signal-regulating kinase 1", "map/erk kinase kinase 5", @@ -156249,7 +160822,9 @@ OMIM:602448 a owl:Class ; "mitogen-activated protein kinase kinase kinase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4217 ; - skos:exactMatch HGNC_symbol:MAP3K5 ; + skos:exactMatch UMLS:C1417014, + HGNC:6857, + HGNC_symbol:MAP3K5 ; biolink:category biolink:Gene . OMIM:602449 a owl:Class ; @@ -156258,14 +160833,15 @@ OMIM:602449 a owl:Class ; PMID:7499250, PMID:8769136, PMID:9065479 ; - oboInOwl:hasDbXref UMLS:C1412311 ; oboInOwl:hasExactSynonym "AKAP1", "a-kinase anchor protein 1", "a-kinase anchor protein, 149-kd", "spermatid a-kinase anchor protein 84" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8165 ; - skos:exactMatch HGNC_symbol:AKAP1 ; + skos:exactMatch UMLS:C1412311, + HGNC:367, + HGNC_symbol:AKAP1 ; biolink:category biolink:Gene . OMIM:602451 a owl:Class ; @@ -156277,13 +160853,14 @@ OMIM:602451 a owl:Class ; PMID:9268704, PMID:9286708, PMID:9542531 ; - oboInOwl:hasDbXref UMLS:C1418221 ; oboInOwl:hasExactSynonym "P2RY6", "purinoceptor p2y6", "pyrimidinergic receptor p2y, g protein-coupled, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5031 ; - skos:exactMatch HGNC_symbol:P2RY6 ; + skos:exactMatch UMLS:C1418221, + HGNC:8543, + HGNC_symbol:P2RY6 ; biolink:category biolink:Gene . OMIM:602452 a owl:Class ; @@ -156300,7 +160877,6 @@ OMIM:602452 a owl:Class ; PMID:9872311 ; RO:0002525 CHR:9606chr2q13 ; RO:0003303 OMIM:114500 ; - oboInOwl:hasDbXref UMLS:C1332455 ; oboInOwl:hasExactSynonym "BUB1", "bub1 mitotic checkpoint serine/threonine kinase", "bub1, s. cerevisiae, homolog of", @@ -156309,26 +160885,28 @@ OMIM:602452 a owl:Class ; "mitotic checkpoint gene bub1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:699 ; - skos:exactMatch HGNC_symbol:BUB1 ; + skos:exactMatch UMLS:C1332455, + HGNC:1148, + HGNC_symbol:BUB1 ; biolink:category biolink:Gene . OMIM:602453 a owl:Class ; rdfs:label "ITGAD" ; IAO:0000142 PMID:8666289 ; - oboInOwl:hasDbXref UMLS:C1416492 ; oboInOwl:hasExactSynonym "ITGAD", "cd11d", "integrin, alpha-d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3681 ; - skos:exactMatch HGNC_symbol:ITGAD ; + skos:exactMatch UMLS:C1416492, + HGNC:6146, + HGNC_symbol:ITGAD ; biolink:category biolink:Gene . OMIM:602454 a owl:Class ; rdfs:label "PTPRU" ; IAO:0000142 PMID:8700514, PMID:9070223 ; - oboInOwl:hasDbXref UMLS:C1419125 ; oboInOwl:hasExactSynonym "PTPRU", "pancreatic carcinoma phosphatase 2", "protein-tyrosine phosphatase j", @@ -156337,7 +160915,9 @@ OMIM:602454 a owl:Class ; "protein-tyrosine phosphatase, receptor-type, u" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10076 ; - skos:exactMatch HGNC_symbol:PTPRU ; + skos:exactMatch UMLS:C1419125, + HGNC:9683, + HGNC_symbol:PTPRU ; biolink:category biolink:Gene . OMIM:602455 a owl:Class ; @@ -156366,14 +160946,15 @@ OMIM:602457 a owl:Class ; PMID:9521326 ; RO:0002525 CHR:9606chr11q13.3 ; RO:0003303 OMIM:613759 ; - oboInOwl:hasDbXref UMLS:C1333530 ; oboInOwl:hasExactSynonym "FADD", "fas-associated 6a death domain", "fas-associating protein with death domain", "mort1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8772 ; - skos:exactMatch HGNC_symbol:FADD ; + skos:exactMatch UMLS:C1333530, + HGNC:3573, + HGNC_symbol:FADD ; biolink:category biolink:Gene . OMIM:602458 a owl:Class ; @@ -156391,7 +160972,6 @@ OMIM:602458 a owl:Class ; PMID:9756851 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:613589 ; - oboInOwl:hasDbXref UMLS:C1420313 ; oboInOwl:hasExactSynonym "SORT1", "neurotensin receptor 3", "neurotensin receptor, 100-kd", @@ -156400,7 +160980,9 @@ OMIM:602458 a owl:Class ; "sortilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6272 ; - skos:exactMatch HGNC_symbol:SORT1 ; + skos:exactMatch UMLS:C1420313, + HGNC:11186, + HGNC_symbol:SORT1 ; biolink:category biolink:Gene . OMIM:602460 a owl:Class ; @@ -156416,14 +160998,15 @@ OMIM:602460 a owl:Class ; PMID:9506947 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:602459 ; - oboInOwl:hasDbXref UMLS:C1418767 ; oboInOwl:hasExactSynonym "POU4F3", "brn3.1, mouse, homolog of", "pou domain, class 4, transcription factor 3", "pou-domain transcription factor brn3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5459 ; - skos:exactMatch HGNC_symbol:POU4F3 ; + skos:exactMatch UMLS:C1418767, + HGNC:9220, + HGNC_symbol:POU4F3 ; biolink:category biolink:Gene . OMIM:602461 a owl:Class ; @@ -156438,7 +161021,6 @@ OMIM:602461 a owl:Class ; PMID:9070220, PMID:9485180, PMID:9542532 ; - oboInOwl:hasDbXref UMLS:C1822726 ; oboInOwl:hasExactSynonym "PTPNS1", "macrophage fusion receptor, mfr", "myd1", @@ -156451,7 +161033,9 @@ OMIM:602461 a owl:Class ; "tyrosine phosphatase shp substrate 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140885 ; - skos:exactMatch HGNC_symbol:SIRPA ; + skos:exactMatch UMLS:C1822726, + HGNC:9662, + HGNC_symbol:SIRPA ; biolink:category biolink:Gene . OMIM:602462 a owl:Class ; @@ -156459,14 +161043,15 @@ OMIM:602462 a owl:Class ; IAO:0000142 PMID:10048489, PMID:10700184, PMID:8973361 ; - oboInOwl:hasDbXref UMLS:C1413714 ; oboInOwl:hasExactSynonym "CRMP1", "collapsin response mediator protein 1", "dihydropyrimidinase-like 1", "dihydropyrimidinase-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1400 ; - skos:exactMatch HGNC_symbol:CRMP1 ; + skos:exactMatch UMLS:C1413714, + HGNC:2365, + HGNC_symbol:CRMP1 ; biolink:category biolink:Gene . OMIM:602463 a owl:Class ; @@ -156478,14 +161063,15 @@ OMIM:602463 a owl:Class ; PMID:29622647, PMID:7601449, PMID:8973361 ; - oboInOwl:hasDbXref UMLS:C1414145 ; oboInOwl:hasExactSynonym "DPYSL2", "collapsin response mediator protein 2", "dihydropyrimidinase-like 2", "dihydropyrimidinase-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1808 ; - skos:exactMatch HGNC_symbol:DPYSL2 ; + skos:exactMatch UMLS:C1414145, + HGNC:3014, + HGNC_symbol:DPYSL2 ; biolink:category biolink:Gene . OMIM:602464 a owl:Class ; @@ -156493,14 +161079,15 @@ OMIM:602464 a owl:Class ; IAO:0000142 PMID:11943846, PMID:7490069, PMID:7592751 ; - oboInOwl:hasDbXref UMLS:C1336665 ; oboInOwl:hasExactSynonym "TRAF4", "cysteine-rich domain associated with ring and traf domains", "malignant 62", "tnf receptor-associated factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9618 ; - skos:exactMatch HGNC_symbol:TRAF4 ; + skos:exactMatch UMLS:C1336665, + HGNC:12034, + HGNC_symbol:TRAF4 ; biolink:category biolink:Gene . OMIM:602465 a owl:Class ; @@ -156516,13 +161103,14 @@ OMIM:602465 a owl:Class ; PMID:21764747, PMID:24055172, PMID:9458049 ; - oboInOwl:hasDbXref UMLS:C1420382 ; oboInOwl:hasExactSynonym "SPRY1", "sprouty rtk signaling antagonist 1", "sprouty, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10252 ; - skos:exactMatch HGNC_symbol:SPRY1 ; + skos:exactMatch UMLS:C1420382, + HGNC:11269, + HGNC_symbol:SPRY1 ; biolink:category biolink:Gene . OMIM:602466 a owl:Class ; @@ -156544,13 +161132,14 @@ OMIM:602466 a owl:Class ; PMID:9458049 ; RO:0002525 CHR:9606chr13q31.1 ; RO:0003303 OMIM:616818 ; - oboInOwl:hasDbXref UMLS:C1420383 ; oboInOwl:hasExactSynonym "SPRY2", "sprouty rtk signaling antagonist 2", "sprouty, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10253 ; - skos:exactMatch HGNC_symbol:SPRY2 ; + skos:exactMatch UMLS:C1420383, + HGNC:11270, + HGNC_symbol:SPRY2 ; biolink:category biolink:Gene . OMIM:602467 a owl:Class ; @@ -156563,14 +161152,15 @@ OMIM:602468 a owl:Class ; PMID:12052877, PMID:15286155, PMID:9362513 ; - oboInOwl:hasDbXref UMLS:C1423077 ; oboInOwl:hasExactSynonym "PPP1R9A", "kiaa1222", "neurabin 1", "protein phosphatase 1, regulatory subunit 9a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55607 ; - skos:exactMatch HGNC_symbol:PPP1R9A ; + skos:exactMatch UMLS:C1423077, + HGNC:14946, + HGNC_symbol:PPP1R9A ; biolink:category biolink:Gene . OMIM:602469 a owl:Class ; @@ -156578,43 +161168,46 @@ OMIM:602469 a owl:Class ; IAO:0000142 PMID:3460637, PMID:3474029, PMID:8110752 ; - oboInOwl:hasDbXref UMLS:C1414666 ; oboInOwl:hasExactSynonym "FOLR3", "folate receptor 3", "folate receptor, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2352 ; - skos:exactMatch HGNC_symbol:FOLR3 ; + skos:exactMatch UMLS:C1414666, + HGNC:3795, + HGNC_symbol:FOLR3 ; biolink:category biolink:Gene . OMIM:602470 a owl:Class ; rdfs:label "PSCA" ; IAO:0000142 PMID:18488030, PMID:9465086 ; - oboInOwl:hasDbXref UMLS:C1418977 ; oboInOwl:hasExactSynonym "PSCA", "prostate stem cell antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8000 ; - skos:exactMatch HGNC_symbol:PSCA ; + skos:exactMatch UMLS:C1418977, + HGNC:9500, + HGNC_symbol:PSCA ; biolink:category biolink:Gene . OMIM:602472 a owl:Class ; rdfs:label "creases, infra-auricular cutaneous, with tall stature and advanced bone age" ; IAO:0000142 PMID:9475593 ; - oboInOwl:hasDbXref UMLS:C1865360 ; - oboInOwl:hasExactSynonym "creases, infra-auricular cutaneous, with tall stature and advanced bone age" . + oboInOwl:hasExactSynonym "creases, infra-auricular cutaneous, with tall stature and advanced bone age" ; + skos:exactMatch UMLS:C1865360 . OMIM:602474 a owl:Class ; rdfs:label "PKMYT1" ; IAO:0000142 PMID:9001210 ; - oboInOwl:hasDbXref UMLS:C1538658 ; oboInOwl:hasExactSynonym "PKMYT1", "cdc2-inhibitory kinase, membrane-associated tyrosine/threonine, 1", "protein kinase, membrane-associated tyrosine/threonine, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9088 ; - skos:exactMatch HGNC_symbol:PKMYT1 ; + skos:exactMatch UMLS:C1538658, + HGNC:29650, + HGNC_symbol:PKMYT1 ; biolink:category biolink:Gene . OMIM:602476 a owl:Class ; @@ -156629,13 +161222,14 @@ OMIM:602478 a owl:Class ; PMID:9425235, PMID:9599025, PMID:9763678 ; - oboInOwl:hasDbXref UMLS:C1823482 ; oboInOwl:hasExactSynonym "DNA methyltransferase 2", "TRDMT1", "trna aspartic acid methyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1787 ; - skos:exactMatch HGNC_symbol:TRDMT1 ; + skos:exactMatch UMLS:C1823482, + HGNC:2977, + HGNC_symbol:TRDMT1 ; biolink:category biolink:Gene . OMIM:602479 a owl:Class ; @@ -156649,14 +161243,15 @@ OMIM:602479 a owl:Class ; PMID:8698235, PMID:9457692, PMID:9742157 ; - oboInOwl:hasDbXref UMLS:C1418761 ; oboInOwl:hasExactSynonym "POU3F1", "oct6", "pou domain, class 3, transcription factor 1", "scip" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5453 ; - skos:exactMatch HGNC_symbol:POU3F1 ; + skos:exactMatch UMLS:C1418761, + HGNC:9214, + HGNC_symbol:POU3F1 ; biolink:category biolink:Gene . OMIM:602480 a owl:Class ; @@ -156669,21 +161264,22 @@ OMIM:602480 a owl:Class ; PMID:9457692 ; RO:0002525 CHR:9606chr2q12.1 ; RO:0003303 OMIM:618604 ; - oboInOwl:hasDbXref UMLS:C1418763, - UMLS:C5231424 ; oboInOwl:hasExactSynonym "POU3F3", "brn1, mouse, homolog of", "pou domain, class 3, transcription factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5455 ; - skos:exactMatch HGNC_symbol:POU3F3 ; + skos:exactMatch UMLS:C1418763, + UMLS:C5231424, + HGNC:9216, + HGNC_symbol:POU3F3 ; biolink:category biolink:Gene . OMIM:602484 a owl:Class ; rdfs:label "pelvic hypoplasia with lower-limb arthrogryposis" ; IAO:0000142 PMID:9489787 ; - oboInOwl:hasDbXref UMLS:C1865294 ; - oboInOwl:hasExactSynonym "pelvic hypoplasia with lower-limb arthrogryposis" . + oboInOwl:hasExactSynonym "pelvic hypoplasia with lower-limb arthrogryposis" ; + skos:exactMatch UMLS:C1865294 . OMIM:602485 a owl:Class ; rdfs:label "hyperinsulinemic hypoglycemia, familial, 3" ; @@ -156692,10 +161288,10 @@ OMIM:602485 a owl:Class ; PMID:20375417, PMID:9435328, PMID:9469993 ; - oboInOwl:hasDbXref UMLS:C1865290 ; oboInOwl:hasExactSynonym "HHF3", "hyperinsulinemic hypoglycemia, familial, 3" ; rdfs:subClassOf OMIMPS:256450 ; + skos:exactMatch UMLS:C1865290 ; biolink:category biolink:Disease . OMIM:602486 a owl:Class ; @@ -156708,13 +161304,14 @@ OMIM:602486 a owl:Class ; PMID:9405234 ; RO:0002525 CHR:9606chr8q22.2 ; RO:0003303 OMIM:617396 ; - oboInOwl:hasDbXref UMLS:C1428935 ; oboInOwl:hasExactSynonym "POP1", "pop1 homolog, ribonuclease p/mrp subunit", "processing of precursor 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10940 ; - skos:exactMatch HGNC_symbol:POP1 ; + skos:exactMatch UMLS:C1428935, + HGNC:30129, + HGNC_symbol:POP1 ; biolink:category biolink:Gene . OMIM:602487 a owl:Class ; @@ -156723,7 +161320,6 @@ OMIM:602487 a owl:Class ; PMID:8814279, PMID:8973653, PMID:9405234 ; - oboInOwl:hasDbXref UMLS:C1537379 ; oboInOwl:hasExactSynonym "HRSP12", "heat-responsive protein 12", "p14.5", @@ -156731,7 +161327,9 @@ OMIM:602487 a owl:Class ; "uk114" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10247 ; - skos:exactMatch HGNC_symbol:RIDA ; + skos:exactMatch UMLS:C1537379, + HGNC:16897, + HGNC_symbol:RIDA ; biolink:category biolink:Gene . OMIM:602489 a owl:Class ; @@ -156745,14 +161343,15 @@ OMIM:602489 a owl:Class ; PMID:28938739, PMID:29808484, PMID:9013542 ; - oboInOwl:hasDbXref UMLS:C1425322 ; oboInOwl:hasExactSynonym "KHDRBS1", "gap-associated tyrosine phosphoprotein, 62-kd", "kh domain-containing, rna-binding, signal transduction-associated protein 1", "src-associated protein 1n mitosis, 68-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10657 ; - skos:exactMatch HGNC_symbol:KHDRBS1 ; + skos:exactMatch UMLS:C1425322, + HGNC:18116, + HGNC_symbol:KHDRBS1 ; biolink:category biolink:Gene . OMIM:602490 a owl:Class ; @@ -156768,13 +161367,14 @@ OMIM:602490 a owl:Class ; PMID:9774688 ; RO:0002525 CHR:9606chr21q11.2-q21.1 ; RO:0003303 OMIM:618270 ; - oboInOwl:hasDbXref UMLS:C1334904 ; oboInOwl:hasExactSynonym "NRIP1", "nuclear receptor-interacting protein 1", "receptor-interacting protein 140" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8204 ; - skos:exactMatch HGNC_symbol:NRIP1 ; + skos:exactMatch UMLS:C1334904, + HGNC:8001, + HGNC_symbol:NRIP1 ; biolink:category biolink:Gene . OMIM:602492 a owl:Class ; @@ -156791,31 +161391,32 @@ OMIM:602492 a owl:Class ; PMID:24758633, PMID:9079634, PMID:9407058 ; - oboInOwl:hasDbXref UMLS:C1419131 ; oboInOwl:hasExactSynonym "PTX3", "pentraxin 3", "pentraxin 3, long" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5806 ; - skos:exactMatch HGNC_symbol:PTX3 ; + skos:exactMatch UMLS:C1419131, + HGNC:9692, + HGNC_symbol:PTX3 ; biolink:category biolink:Gene . OMIM:602493 a owl:Class ; rdfs:label "UVRAG" ; IAO:0000142 PMID:2332174, PMID:9169138 ; - oboInOwl:hasDbXref UMLS:C1421416 ; oboInOwl:hasExactSynonym "UVRAG", "uv radiation resistance-associated gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7405 ; - skos:exactMatch HGNC_symbol:UVRAG ; + skos:exactMatch UMLS:C1421416, + HGNC:12640, + HGNC_symbol:UVRAG ; biolink:category biolink:Gene . OMIM:602494 a owl:Class ; rdfs:label "CCL23" ; IAO:0000142 PMID:9104803 ; - oboInOwl:hasDbXref UMLS:C1332686 ; oboInOwl:hasExactSynonym "CCL23", "chemokine, cc motif, ligand 23", "ck-beta-8", @@ -156823,7 +161424,9 @@ OMIM:602494 a owl:Class ; "small inducible cytokine subfamily a, member 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6368 ; - skos:exactMatch HGNC_symbol:CCL23 ; + skos:exactMatch UMLS:C1332686, + HGNC:10622, + HGNC_symbol:CCL23 ; biolink:category biolink:Gene . OMIM:602495 a owl:Class ; @@ -156833,7 +161436,6 @@ OMIM:602495 a owl:Class ; PMID:15744457, PMID:9104803, PMID:9598329 ; - oboInOwl:hasDbXref UMLS:C1332687 ; oboInOwl:hasExactSynonym "CCL24", "chemokine, cc motif, ligand 24", "eotaxin 2", @@ -156841,7 +161443,9 @@ OMIM:602495 a owl:Class ; "small inducible cytokine subfamily a, member 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6369 ; - skos:exactMatch HGNC_symbol:CCL24 ; + skos:exactMatch UMLS:C1332687, + HGNC:10623, + HGNC_symbol:CCL24 ; biolink:category biolink:Gene . OMIM:602496 a owl:Class ; @@ -156851,13 +161455,14 @@ OMIM:602496 a owl:Class ; PMID:1953758, PMID:7608189, PMID:9070219 ; - oboInOwl:hasDbXref UMLS:C1417246 ; oboInOwl:hasExactSynonym "MPST", "mercaptopyruvate sulfurtransferase", "mst" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4357 ; - skos:exactMatch HGNC_symbol:MPST ; + skos:exactMatch UMLS:C1417246, + HGNC:7223, + HGNC_symbol:MPST ; biolink:category biolink:Gene . OMIM:602497 a owl:Class ; @@ -156865,9 +161470,9 @@ OMIM:602497 a owl:Class ; IAO:0000142 PMID:12794700, PMID:12949976, PMID:9508239 ; - oboInOwl:hasDbXref UMLS:C1844853 ; oboInOwl:hasExactSynonym "brachytelephalangic chondrodysplasia punctata", - "chondrodysplasia punctata, brachytelephalangic, autosomal" . + "chondrodysplasia punctata, brachytelephalangic, autosomal" ; + skos:exactMatch UMLS:C1844853 . OMIM:602498 a owl:Class ; rdfs:label "TFG" ; @@ -156881,7 +161486,6 @@ OMIM:602498 a owl:Class ; PMID:9169129 ; RO:0002525 CHR:9606chr3q12.2 ; RO:0003303 OMIM:604484 ; - oboInOwl:hasDbXref UMLS:C1420703 ; oboInOwl:hasExactSynonym "TFG", "tfg/nr4a3 fusion gene", "tfg/ntrk1 fusion gene", @@ -156890,7 +161494,9 @@ OMIM:602498 a owl:Class ; "trkt3 oncogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10342 ; - skos:exactMatch HGNC_symbol:TFG ; + skos:exactMatch UMLS:C1420703, + HGNC:11758, + HGNC_symbol:TFG ; biolink:category biolink:Gene . OMIM:602499 a owl:Class ; @@ -156901,9 +161507,9 @@ OMIM:602499 a owl:Class ; PMID:6545385, PMID:9508245 ; RO:0002525 CHR:9606chr2p22.2 ; - oboInOwl:hasDbXref UMLS:C1865286 ; oboInOwl:hasExactSynonym "MACOM", "macrophthalmia, colobomatous, with microcornea" ; + skos:exactMatch UMLS:C1865286 ; biolink:category biolink:Disease . OMIM:602500 a owl:Class ; @@ -156912,7 +161518,6 @@ OMIM:602500 a owl:Class ; PMID:7691276, PMID:7802676, PMID:8198703 ; - oboInOwl:hasDbXref UMLS:C1415178 ; oboInOwl:hasExactSynonym "GOLGB1", "gcp372", "giantin", @@ -156920,7 +161525,9 @@ OMIM:602500 a owl:Class ; "macrogolgin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2804 ; - skos:exactMatch HGNC_symbol:GOLGB1 ; + skos:exactMatch UMLS:C1415178, + HGNC:4429, + HGNC_symbol:GOLGB1 ; biolink:category biolink:Gene . OMIM:602501 a owl:Class ; @@ -156943,14 +161550,14 @@ OMIM:602501 a owl:Class ; PMID:9354837, PMID:9511980, PMID:9894160 ; - oboInOwl:hasDbXref UMLS:C1865285, - ORPHA:60040 ; oboInOwl:hasExactSynonym "MCAP", "macrocephaly-capillary malformation", "macrocephaly-cutis marmorata telangiectatica congenita", "megalencephaly-capillary malformation syndrome", "megalencephaly-capillary malformation-polymicrogyria syndrome", "megalencephaly-cutis marmorata telangiectatica congenita" ; + skos:exactMatch UMLS:C1865285, + ORPHA:60040 ; biolink:category biolink:Disease . OMIM:602502 a owl:Class ; @@ -156958,14 +161565,15 @@ OMIM:602502 a owl:Class ; IAO:0000142 PMID:15269279, PMID:25359980, PMID:9324025 ; - oboInOwl:hasDbXref UMLS:C1415173 ; oboInOwl:hasExactSynonym "GOLGA1", "golgi autoantigen, golgin subfamily a, 1", "golgin 97", "golgin a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2800 ; - skos:exactMatch HGNC_symbol:GOLGA1 ; + skos:exactMatch UMLS:C1415173, + HGNC:4424, + HGNC_symbol:GOLGA1 ; biolink:category biolink:Gene . OMIM:602503 a owl:Class ; @@ -156973,12 +161581,13 @@ OMIM:602503 a owl:Class ; IAO:0000142 PMID:15681612, PMID:9034327, PMID:9635432 ; - oboInOwl:hasDbXref UMLS:C1333576 ; oboInOwl:hasExactSynonym "FRAT1", "frequently rearranged 1n advanced t-cell lymphomas" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10023 ; - skos:exactMatch HGNC_symbol:FRAT1 ; + skos:exactMatch UMLS:C1333576, + HGNC:3944, + HGNC_symbol:FRAT1 ; biolink:category biolink:Gene . OMIM:602504 a owl:Class ; @@ -156990,13 +161599,14 @@ OMIM:602504 a owl:Class ; PMID:9259282, PMID:9482898, PMID:9858825 ; - oboInOwl:hasDbXref UMLS:C1420042 ; oboInOwl:hasExactSynonym "SHOX2", "short stature homeobox 2", "shox homologous gene on chromosome three" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6474 ; - skos:exactMatch HGNC_symbol:SHOX2 ; + skos:exactMatch UMLS:C1420042, + HGNC:10854, + HGNC_symbol:SHOX2 ; biolink:category biolink:Gene . OMIM:602505 a owl:Class ; @@ -157010,12 +161620,13 @@ OMIM:602505 a owl:Class ; PMID:2472406, PMID:7534286, PMID:9054445 ; - oboInOwl:hasDbXref UMLS:C1419150 ; oboInOwl:hasExactSynonym "PXN", "paxillin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5829 ; - skos:exactMatch HGNC_symbol:PXN ; + skos:exactMatch UMLS:C1419150, + HGNC:9718, + HGNC_symbol:PXN ; biolink:category biolink:Gene . OMIM:602506 a owl:Class ; @@ -157025,14 +161636,15 @@ OMIM:602506 a owl:Class ; OMIM:602507 a owl:Class ; rdfs:label "RNF103" ; IAO:0000142 PMID:9070305 ; - oboInOwl:hasDbXref UMLS:C1421568 ; oboInOwl:hasExactSynonym "RNF103", "kf1", "ring finger protein 103", "zinc finger protein 103, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7844 ; - skos:exactMatch HGNC_symbol:RNF103 ; + skos:exactMatch UMLS:C1421568, + HGNC:12859, + HGNC_symbol:RNF103 ; biolink:category biolink:Gene . OMIM:602508 a owl:Class ; @@ -157041,12 +161653,13 @@ OMIM:602508 a owl:Class ; PMID:21844189, PMID:9144386, PMID:9693049 ; - oboInOwl:hasDbXref UMLS:C1418246 ; oboInOwl:hasExactSynonym "PAFAH1B2", "platelet-activating factor acetylhydrolase, isoform 1b, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5049 ; - skos:exactMatch HGNC_symbol:PAFAH1B2 ; + skos:exactMatch UMLS:C1418246, + HGNC:8575, + HGNC_symbol:PAFAH1B2 ; biolink:category biolink:Gene . OMIM:602509 a owl:Class ; @@ -157057,7 +161670,6 @@ OMIM:602509 a owl:Class ; PMID:25359980, PMID:8537393, PMID:8626529 ; - oboInOwl:hasDbXref UMLS:C1415176 ; oboInOwl:hasExactSynonym "GOLGA4", "golgi autoantigen, golgin subfamily a, 4", "golgin 245", @@ -157065,7 +161677,9 @@ OMIM:602509 a owl:Class ; "trans-golgi p230" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2803 ; - skos:exactMatch HGNC_symbol:GOLGA4 ; + skos:exactMatch UMLS:C1415176, + HGNC:4427, + HGNC_symbol:GOLGA4 ; biolink:category biolink:Gene . OMIM:602510 a owl:Class ; @@ -157073,20 +161687,21 @@ OMIM:602510 a owl:Class ; IAO:0000142 PMID:11435690, PMID:8294459, PMID:9070877 ; - oboInOwl:hasDbXref UMLS:C1419116 ; oboInOwl:hasExactSynonym "PTPRH", "protein-tyrosine phosphatase, receptor-type, h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5794 ; - skos:exactMatch HGNC_symbol:PTPRH ; + skos:exactMatch UMLS:C1419116, + HGNC:9672, + HGNC_symbol:PTPRH ; biolink:category biolink:Gene . OMIM:602511 a owl:Class ; rdfs:label "pseudoacromegaly with severe insulin resistance" ; IAO:0000142 PMID:8388881, PMID:9486982 ; - oboInOwl:hasDbXref UMLS:C1865284 ; - oboInOwl:hasExactSynonym "pseudoacromegaly with severe insulin resistance" . + oboInOwl:hasExactSynonym "pseudoacromegaly with severe insulin resistance" ; + skos:exactMatch UMLS:C1865284 . OMIM:602512 a owl:Class ; rdfs:label "RGS12" ; @@ -157095,12 +161710,13 @@ OMIM:602512 a owl:Class ; PMID:11829488, PMID:9168931, PMID:9651375 ; - oboInOwl:hasDbXref UMLS:C1419370 ; oboInOwl:hasExactSynonym "RGS12", "regulator of g protein signaling 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6002 ; - skos:exactMatch HGNC_symbol:RGS12 ; + skos:exactMatch UMLS:C1419370, + HGNC:9994, + HGNC_symbol:RGS12 ; biolink:category biolink:Gene . OMIM:602513 a owl:Class ; @@ -157110,12 +161726,13 @@ OMIM:602513 a owl:Class ; PMID:11829488, PMID:11976690, PMID:9168931 ; - oboInOwl:hasDbXref UMLS:C1419372 ; oboInOwl:hasExactSynonym "RGS14", "regulator of g protein signaling 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10636 ; - skos:exactMatch HGNC_symbol:RGS14 ; + skos:exactMatch UMLS:C1419372, + HGNC:9996, + HGNC_symbol:RGS14 ; biolink:category biolink:Gene . OMIM:602514 a owl:Class ; @@ -157124,12 +161741,13 @@ OMIM:602514 a owl:Class ; PMID:8917514, PMID:9223279, PMID:9469939 ; - oboInOwl:hasDbXref UMLS:C1419373 ; oboInOwl:hasExactSynonym "RGS16", "regulator of g protein signaling 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6004 ; - skos:exactMatch HGNC_symbol:RGS16 ; + skos:exactMatch UMLS:C1419373, + HGNC:9997, + HGNC_symbol:RGS16 ; biolink:category biolink:Gene . OMIM:602515 a owl:Class ; @@ -157138,14 +161756,15 @@ OMIM:602515 a owl:Class ; PMID:2017684, PMID:32646997, PMID:9716655 ; - oboInOwl:hasDbXref UMLS:C1415202 ; oboInOwl:hasExactSynonym "GPLD1", "glycosylphosphatidylinositol-specific phospholipase d", "phospholipase d, phosphatidylinositol-glycan-specific", "phospholipase d1, glycosylphosphatidylinositol-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2822 ; - skos:exactMatch HGNC_symbol:GPLD1 ; + skos:exactMatch UMLS:C1415202, + HGNC:4459, + HGNC_symbol:GPLD1 ; biolink:category biolink:Gene . OMIM:602516 a owl:Class ; @@ -157155,24 +161774,26 @@ OMIM:602516 a owl:Class ; PMID:20385802, PMID:8548815, PMID:8602223 ; - oboInOwl:hasDbXref UMLS:C1419374 ; oboInOwl:hasExactSynonym "RGS4", "regulator of g protein signaling 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5999 ; - skos:exactMatch HGNC_symbol:RGS4 ; + skos:exactMatch UMLS:C1419374, + HGNC:10000, + HGNC_symbol:RGS4 ; biolink:category biolink:Gene . OMIM:602517 a owl:Class ; rdfs:label "RGS7" ; IAO:0000142 PMID:11829488, PMID:8548815 ; - oboInOwl:hasDbXref UMLS:C1419377 ; oboInOwl:hasExactSynonym "RGS7", "regulator of g protein signaling 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6000 ; - skos:exactMatch HGNC_symbol:RGS7 ; + skos:exactMatch UMLS:C1419377, + HGNC:10003, + HGNC_symbol:RGS7 ; biolink:category biolink:Gene . OMIM:602518 a owl:Class ; @@ -157180,13 +161801,14 @@ OMIM:602518 a owl:Class ; IAO:0000142 PMID:20154696, PMID:9162064, PMID:9310382 ; - oboInOwl:hasDbXref UMLS:C1416832 ; oboInOwl:hasExactSynonym "LGALS4", "galectin 4", "lectin, galactoside-binding, soluble, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3960 ; - skos:exactMatch HGNC_symbol:LGALS4 ; + skos:exactMatch UMLS:C1416832, + HGNC:6565, + HGNC_symbol:LGALS4 ; biolink:category biolink:Gene . OMIM:602519 a owl:Class ; @@ -157208,8 +161830,6 @@ OMIM:602519 a owl:Class ; PMID:9925944 ; RO:0002525 CHR:9606chr16p13.2 ; RO:0003303 OMIM:616863 ; - oboInOwl:hasDbXref UMLS:C1421408, - UMLS:C5393908 ; oboInOwl:hasExactSynonym "USP7", "herpesvirus-associated ubiquitin-specific protease", "ubiquitin-specific protease 7", @@ -157217,13 +161837,15 @@ OMIM:602519 a owl:Class ; "vmw110-associated protein, 135-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7874 ; - skos:exactMatch HGNC_symbol:USP7 ; + skos:exactMatch UMLS:C1421408, + UMLS:C5393908, + HGNC:12630, + HGNC_symbol:USP7 ; biolink:category biolink:Gene . OMIM:602520 a owl:Class ; rdfs:label "MAP2K5" ; IAO:0000142 PMID:7759517 ; - oboInOwl:hasDbXref UMLS:C1442512 ; oboInOwl:hasExactSynonym "MAP2K5", "mapk/erk kinase 5", "mapkk5", @@ -157231,7 +161853,9 @@ OMIM:602520 a owl:Class ; "protein kinase, mitogen-activated, kinase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5607 ; - skos:exactMatch HGNC_symbol:MAP2K5 ; + skos:exactMatch UMLS:C1442512, + HGNC:6845, + HGNC_symbol:MAP2K5 ; biolink:category biolink:Gene . OMIM:602521 a owl:Class ; @@ -157242,14 +161866,15 @@ OMIM:602521 a owl:Class ; PMID:21187442, PMID:7646528, PMID:7759517 ; - oboInOwl:hasDbXref UMLS:C1334481 ; oboInOwl:hasExactSynonym "MAPK7", "extracellular signal-regulated kinase 5", "mitogen-activated protein kinase 7", "protein kinase, mitogen-activated, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5598 ; - skos:exactMatch HGNC_symbol:MAPK7 ; + skos:exactMatch UMLS:C1334481, + HGNC:6880, + HGNC_symbol:MAPK7 ; biolink:category biolink:Gene . OMIM:602523 a owl:Class ; @@ -157268,12 +161893,13 @@ OMIM:602523 a owl:Class ; PMID:26317474, PMID:30206355, PMID:9426258 ; - oboInOwl:hasDbXref UMLS:C1414159 ; oboInOwl:hasExactSynonym "DSCAM", "down syndrome cell adhesion molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1826 ; - skos:exactMatch HGNC_symbol:DSCAM ; + skos:exactMatch UMLS:C1414159, + HGNC:3039, + HGNC_symbol:DSCAM ; biolink:category biolink:Gene . OMIM:602524 a owl:Class ; @@ -157281,12 +161907,13 @@ OMIM:602524 a owl:Class ; IAO:0000142 PMID:11486000, PMID:12573248, PMID:7499431 ; - oboInOwl:hasDbXref UMLS:C1418440 ; oboInOwl:hasExactSynonym "PDK1", "pyruvate dehydrogenase kinase, isoenzyme 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5163 ; - skos:exactMatch HGNC_symbol:PDK1 ; + skos:exactMatch UMLS:C1418440, + HGNC:8809, + HGNC_symbol:PDK1 ; biolink:category biolink:Gene . OMIM:602525 a owl:Class ; @@ -157297,12 +161924,13 @@ OMIM:602525 a owl:Class ; PMID:17669420, PMID:24747400, PMID:7499431 ; - oboInOwl:hasDbXref UMLS:C1418441 ; oboInOwl:hasExactSynonym "PDK2", "pyruvate dehydrogenase kinase, isoenzyme 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5164 ; - skos:exactMatch HGNC_symbol:PDK2 ; + skos:exactMatch UMLS:C1418441, + HGNC:8810, + HGNC_symbol:PDK2 ; biolink:category biolink:Gene . OMIM:602526 a owl:Class ; @@ -157314,25 +161942,27 @@ OMIM:602527 a owl:Class ; IAO:0000142 PMID:11486000, PMID:17669420, PMID:8798399 ; - oboInOwl:hasDbXref UMLS:C1418443 ; oboInOwl:hasExactSynonym "PDK4", "pyruvate dehydrogenase kinase, isoenzyme 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5166 ; - skos:exactMatch HGNC_symbol:PDK4 ; + skos:exactMatch UMLS:C1418443, + HGNC:8812, + HGNC_symbol:PDK4 ; biolink:category biolink:Gene . OMIM:602528 a owl:Class ; rdfs:label "TUBA3C" ; IAO:0000142 PMID:17543498, PMID:9465305 ; - oboInOwl:hasDbXref UMLS:C1421227 ; oboInOwl:hasExactSynonym "TUBA3C", "tubulin, alpha-2", "tubulin, alpha-3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7278 ; - skos:exactMatch HGNC_symbol:TUBA3C ; + skos:exactMatch UMLS:C1421227, + HGNC:12408, + HGNC_symbol:TUBA3C ; biolink:category biolink:Gene . OMIM:602529 a owl:Class ; @@ -157352,7 +161982,6 @@ OMIM:602529 a owl:Class ; PMID:6646120 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:611603 ; - oboInOwl:hasDbXref UMLS:C1865269 ; oboInOwl:hasExactSynonym "TUBA1A", "b-alpha-1", "tuba3", @@ -157360,7 +161989,9 @@ OMIM:602529 a owl:Class ; "tubulin, alpha-1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7846 ; - skos:exactMatch HGNC_symbol:TUBA1A ; + skos:exactMatch UMLS:C1865269, + HGNC:20766, + HGNC_symbol:TUBA1A ; biolink:category biolink:Gene . OMIM:602530 a owl:Class ; @@ -157369,27 +162000,29 @@ OMIM:602530 a owl:Class ; PMID:31727855, PMID:3693406, PMID:6646120 ; - oboInOwl:hasDbXref UMLS:C1865268 ; oboInOwl:hasExactSynonym "TUBA1B", "k-alpha-1", "tubulin, alpha, ubiquitous", "tubulin, alpha-1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10376 ; - skos:exactMatch HGNC_symbol:TUBA1B ; + skos:exactMatch UMLS:C1865268, + HGNC:18809, + HGNC_symbol:TUBA1B ; biolink:category biolink:Gene . OMIM:602532 a owl:Class ; rdfs:label "RNF217AS1" ; IAO:0000142 PMID:25298122, PMID:9087565 ; - oboInOwl:hasDbXref UMLS:C1865266 ; oboInOwl:hasExactSynonym "RNF217AS1", "rnf217 antisense RNA 1", "six-twelve leukemia gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7955 ; - skos:exactMatch HGNC_symbol:RNF217-AS1 ; + skos:exactMatch UMLS:C1865266, + HGNC:50866, + HGNC_symbol:RNF217-AS1 ; biolink:category biolink:Gene . OMIM:602533 a owl:Class ; @@ -157427,14 +162060,15 @@ OMIM:602533 a owl:Class ; PMID:9792810 ; RO:0002525 CHR:9606chr1p36.23 ; RO:0003303 OMIM:606324 ; - oboInOwl:hasDbXref UMLS:C1424222 ; oboInOwl:hasExactSynonym "DJ1", "oncogene dj1", "park7 gene", "parkinsonism-associated deglycase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11315 ; - skos:exactMatch HGNC_symbol:PARK7 ; + skos:exactMatch UMLS:C1424222, + HGNC:16369, + HGNC_symbol:PARK7 ; biolink:category biolink:Gene . OMIM:602534 a owl:Class ; @@ -157446,7 +162080,6 @@ OMIM:602534 a owl:Class ; PMID:9070898, PMID:9614185, PMID:9727496 ; - oboInOwl:hasDbXref UMLS:C1420269 ; oboInOwl:hasExactSynonym "SNAP23", "snap23a", "snap23b", @@ -157456,7 +162089,9 @@ OMIM:602534 a owl:Class ; "synaptosomal-associated protein, 23-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8773 ; - skos:exactMatch HGNC_symbol:SNAP23 ; + skos:exactMatch UMLS:C1420269, + HGNC:11131, + HGNC_symbol:SNAP23 ; biolink:category biolink:Gene . OMIM:602536 a owl:Class ; @@ -157475,7 +162110,6 @@ OMIM:602536 a owl:Class ; PMID:9733780 ; RO:0002525 CHR:9606chr2q21.3 ; RO:0003303 OMIM:600118 ; - oboInOwl:hasDbXref UMLS:C1826756 ; oboInOwl:hasExactSynonym "RAB3GAP1", "kiaa0066", "p130", @@ -157486,7 +162120,9 @@ OMIM:602536 a owl:Class ; "warbm1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22930 ; - skos:exactMatch HGNC_symbol:RAB3GAP1 ; + skos:exactMatch UMLS:C1826756, + HGNC:17063, + HGNC_symbol:RAB3GAP1 ; biolink:category biolink:Gene . OMIM:602537 a owl:Class ; @@ -157500,13 +162136,14 @@ OMIM:602537 a owl:Class ; PMID:9367857 ; RO:0002525 CHR:9606chr11q13.5 ; RO:0003303 OMIM:193235 ; - oboInOwl:hasDbXref UMLS:C1413115 ; oboInOwl:hasExactSynonym "CAPN5", "calpain 5", "htra3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:726 ; - skos:exactMatch HGNC_symbol:CAPN5 ; + skos:exactMatch UMLS:C1413115, + HGNC:1482, + HGNC_symbol:CAPN5 ; biolink:category biolink:Gene . OMIM:602538 a owl:Class ; @@ -157524,7 +162161,6 @@ OMIM:602538 a owl:Class ; PMID:9887331 ; RO:0002525 CHR:9606chr10p14 ; RO:0003303 OMIM:619561 ; - oboInOwl:hasDbXref UMLS:C1413825 ; oboInOwl:hasExactSynonym "CELF2", "bruno-like 3", "cug triplet repeat, rna-binding protein 2", @@ -157532,7 +162168,9 @@ OMIM:602538 a owl:Class ; "rna-binding protein etr3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10659 ; - skos:exactMatch HGNC_symbol:CELF2 ; + skos:exactMatch UMLS:C1413825, + HGNC:2550, + HGNC_symbol:CELF2 ; biolink:category biolink:Gene . OMIM:602539 a owl:Class ; @@ -157542,24 +162180,25 @@ OMIM:602539 a owl:Class ; PMID:16039990, PMID:17522105, PMID:9006902 ; - oboInOwl:hasDbXref UMLS:C1442513 ; oboInOwl:hasExactSynonym "MAP3K3", "map/erk kinase kinase 3", "mapkkk3", "mitogen-activated kinase kinase kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4215 ; - skos:exactMatch HGNC_symbol:MAP3K3 ; + skos:exactMatch UMLS:C1442513, + HGNC:6855, + HGNC_symbol:MAP3K3 ; biolink:category biolink:Gene . OMIM:602540 a owl:Class ; rdfs:label "ichthyosis, hystrix-like, with deafness" ; IAO:0000142 PMID:12072059, PMID:3276270 ; - oboInOwl:hasDbXref UMLS:C1865234, - ORPHA:477 ; oboInOwl:hasExactSynonym "hid syndrome", "ichthyosis, hystrix-like, with deafness" ; + skos:exactMatch UMLS:C1865234, + ORPHA:477 ; biolink:category biolink:Disease . OMIM:602542 a owl:Class ; @@ -157570,7 +162209,6 @@ OMIM:602542 a owl:Class ; PMID:1386332, PMID:2320128, PMID:8047162 ; - oboInOwl:hasDbXref UMLS:C1412835 ; oboInOwl:hasExactSynonym "BTF3", "basic transcription factor 3", "beta-nac", @@ -157579,20 +162217,23 @@ OMIM:602542 a owl:Class ; "nascent polypeptide-associated complex, beta polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:689 ; - skos:exactMatch HGNC_symbol:BTF3 ; + skos:exactMatch UMLS:C1412835, + HGNC:1125, + HGNC_symbol:BTF3 ; biolink:category biolink:Gene . OMIM:602543 a owl:Class ; rdfs:label "BTF3P11" ; IAO:0000142 PMID:1386332, PMID:9325059 ; - oboInOwl:hasDbXref UMLS:C1412836 ; oboInOwl:hasExactSynonym "BTF3P11", "basic transcription factor 3 pseudogene 11", "basic transcription factor 3-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:690 ; - skos:exactMatch HGNC_symbol:BTF3P11 ; + skos:exactMatch UMLS:C1412836, + HGNC:1126, + HGNC_symbol:BTF3P11 ; biolink:category biolink:Gene . OMIM:602544 a owl:Class ; @@ -157730,17 +162371,18 @@ OMIM:602544 a owl:Class ; PMID:9802278 ; RO:0002525 CHR:9606chr6q26 ; RO:0003303 OMIM:600116 ; - oboInOwl:hasDbXref UMLS:C1418270, - UMLS:C1868675, - UMLS:C1969537, - UMLS:C3838632 ; oboInOwl:hasExactSynonym "PARK2", "fragile site fra6e", "parkin", "prkn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5071 ; - skos:exactMatch HGNC_symbol:PRKN ; + skos:exactMatch UMLS:C1418270, + UMLS:C1868675, + UMLS:C1969537, + UMLS:C3838632, + HGNC:8607, + HGNC_symbol:PRKN ; biolink:category biolink:Gene . OMIM:602545 a owl:Class ; @@ -157749,12 +162391,13 @@ OMIM:602545 a owl:Class ; PMID:8663237, PMID:9047348, PMID:9722959 ; - oboInOwl:hasDbXref UMLS:C1419117 ; oboInOwl:hasExactSynonym "PTPRK", "protein-tyrosine phosphatase, receptor-type, kappa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5796 ; - skos:exactMatch HGNC_symbol:PTPRK ; + skos:exactMatch UMLS:C1419117, + HGNC:9674, + HGNC_symbol:PTPRK ; biolink:category biolink:Gene . OMIM:602546 a owl:Class ; @@ -157766,7 +162409,6 @@ OMIM:602546 a owl:Class ; PMID:7685014, PMID:8027041, PMID:9054414 ; - oboInOwl:hasDbXref UMLS:C1539874 ; oboInOwl:hasExactSynonym "ST8SIA2", "alpha-2,8-sialyltransferase 2", "sialyltransferase 10", @@ -157775,7 +162417,9 @@ OMIM:602546 a owl:Class ; "st8sia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8128 ; - skos:exactMatch HGNC_symbol:ST8SIA2 ; + skos:exactMatch UMLS:C1539874, + HGNC:10870, + HGNC_symbol:ST8SIA2 ; biolink:category biolink:Gene . OMIM:602547 a owl:Class ; @@ -157787,7 +162431,6 @@ OMIM:602547 a owl:Class ; PMID:7624364, PMID:7854457, PMID:9054414 ; - oboInOwl:hasDbXref UMLS:C1539876 ; oboInOwl:hasExactSynonym "ST8SIA4", "alpha-2,8-sialyltransferase 4", "polysialyltransferase", @@ -157796,7 +162439,9 @@ OMIM:602547 a owl:Class ; "st8sia 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7903 ; - skos:exactMatch HGNC_symbol:ST8SIA4 ; + skos:exactMatch UMLS:C1539876, + HGNC:10871, + HGNC_symbol:ST8SIA4 ; biolink:category biolink:Gene . OMIM:602548 a owl:Class ; @@ -157810,7 +162455,6 @@ OMIM:602548 a owl:Class ; PMID:8137918, PMID:9038367, PMID:9660760 ; - oboInOwl:hasDbXref UMLS:C1417964 ; oboInOwl:hasExactSynonym "OPRL1", "lc132 receptor, rat, homolog of", "nociceptin receptor", @@ -157819,7 +162463,9 @@ OMIM:602548 a owl:Class ; "orl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4987 ; - skos:exactMatch HGNC_symbol:OPRL1 ; + skos:exactMatch UMLS:C1417964, + HGNC:8155, + HGNC_symbol:OPRL1 ; biolink:category biolink:Gene . OMIM:602549 a owl:Class ; @@ -157827,7 +162473,6 @@ OMIM:602549 a owl:Class ; IAO:0000142 PMID:7851406, PMID:7988719, PMID:9092545 ; - oboInOwl:hasDbXref UMLS:C1538660 ; oboInOwl:hasExactSynonym "PKN2", "pak2, rat, homolog of", "protein kinase c-like 2", @@ -157835,7 +162480,9 @@ OMIM:602549 a owl:Class ; "protein-kinase c-related kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5586 ; - skos:exactMatch HGNC_symbol:PKN2 ; + skos:exactMatch UMLS:C1538660, + HGNC:9406, + HGNC_symbol:PKN2 ; biolink:category biolink:Gene . OMIM:602550 a owl:Class ; @@ -157876,7 +162523,6 @@ OMIM:602550 a owl:Class ; PMID:9585435, PMID:9616112, PMID:9616122 ; - oboInOwl:hasDbXref UMLS:C1412544 ; oboInOwl:hasExactSynonym "ARNTL", "aryl hydrocarbon receptor nuclear translocator-like protein", "brain and muscle arnt-like protein 1", @@ -157885,14 +162531,16 @@ OMIM:602550 a owl:Class ; "tic, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406 ; - skos:exactMatch HGNC_symbol:ARNTL ; + skos:exactMatch UMLS:C1412544, + HGNC:701, + HGNC_symbol:ARNTL ; biolink:category biolink:Gene . OMIM:602551 a owl:Class ; rdfs:label "jejunal atresia with renal adysplasia" ; IAO:0000142 PMID:8906679 ; - oboInOwl:hasDbXref UMLS:C1865209 ; - oboInOwl:hasExactSynonym "jejunal atresia with renal adysplasia" . + oboInOwl:hasExactSynonym "jejunal atresia with renal adysplasia" ; + skos:exactMatch UMLS:C1865209 . OMIM:602552 a owl:Class ; rdfs:label "NUP88" ; @@ -157901,12 +162549,13 @@ OMIM:602552 a owl:Class ; PMID:9205132 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:618393 ; - oboInOwl:hasDbXref UMLS:C1417896 ; oboInOwl:hasExactSynonym "NUP88", "nucleoporin, 88-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4927 ; - skos:exactMatch HGNC_symbol:NUP88 ; + skos:exactMatch UMLS:C1417896, + HGNC:8067, + HGNC_symbol:NUP88 ; biolink:category biolink:Gene . OMIM:602553 a owl:Class ; @@ -157915,33 +162564,33 @@ OMIM:602553 a owl:Class ; PMID:606176, PMID:8418661, PMID:9240747 ; - oboInOwl:hasDbXref UMLS:C1865208 ; - oboInOwl:hasExactSynonym "anal atresia, hypospadias, and penoscrotal inversion" . + oboInOwl:hasExactSynonym "anal atresia, hypospadias, and penoscrotal inversion" ; + skos:exactMatch UMLS:C1865208 . OMIM:602554 a owl:Class ; rdfs:label "torsion dystonia with onset 1n infancy" ; IAO:0000142 PMID:8916165 ; - oboInOwl:hasDbXref UMLS:C1865205 ; - oboInOwl:hasExactSynonym "torsion dystonia with onset 1n infancy" . + oboInOwl:hasExactSynonym "torsion dystonia with onset 1n infancy" ; + skos:exactMatch UMLS:C1865205 . OMIM:602555 a owl:Class ; rdfs:label "microcephaly, macrotia, and mental retardation" ; IAO:0000142 PMID:8985731 ; - oboInOwl:hasDbXref UMLS:C1865204 ; - oboInOwl:hasExactSynonym "microcephaly, macrotia, and mental retardation" . + oboInOwl:hasExactSynonym "microcephaly, macrotia, and mental retardation" ; + skos:exactMatch UMLS:C1865204 . OMIM:602556 a owl:Class ; rdfs:label "facial dysmorphism, cleft palate, hearing loss, and camptodactyly" ; IAO:0000142 PMID:9018417 ; - oboInOwl:hasDbXref UMLS:C1865203 ; - oboInOwl:hasExactSynonym "facial dysmorphism, cleft palate, hearing loss, and camptodactyly" . + oboInOwl:hasExactSynonym "facial dysmorphism, cleft palate, hearing loss, and camptodactyly" ; + skos:exactMatch UMLS:C1865203 . OMIM:602558 a owl:Class ; rdfs:label "craniomicromelic syndrome" ; IAO:0000142 PMID:10588845, PMID:8533844 ; - oboInOwl:hasDbXref UMLS:C1865184 ; - oboInOwl:hasExactSynonym "craniomicromelic syndrome" . + oboInOwl:hasExactSynonym "craniomicromelic syndrome" ; + skos:exactMatch UMLS:C1865184 . OMIM:602559 a owl:Class ; rdfs:label "XPO1" ; @@ -157956,39 +162605,40 @@ OMIM:602559 a owl:Class ; PMID:9323132, PMID:9323133, PMID:9368044 ; - oboInOwl:hasDbXref UMLS:C1421544 ; oboInOwl:hasExactSynonym "XPO1", "exportin 1", "required for chromosome region maintenance" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7514 ; - skos:exactMatch HGNC_symbol:XPO1 ; + skos:exactMatch UMLS:C1421544, + HGNC:12825, + HGNC_symbol:XPO1 ; biolink:category biolink:Gene . OMIM:602560 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:2023943, PMID:9089291 ; - oboInOwl:hasDbXref UMLS:C1865183 ; oboInOwl:hasExactSynonym "tap", "tracheal antimicrobial peptide" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1865183 ; biolink:category biolink:Gene . OMIM:602561 a owl:Class ; rdfs:label "brachydactyly, intraventricular septal defect, and deafness" ; IAO:0000142 PMID:9018415 ; - oboInOwl:hasDbXref UMLS:C1865182 ; - oboInOwl:hasExactSynonym "brachydactyly, intraventricular septal defect, and deafness" . + oboInOwl:hasExactSynonym "brachydactyly, intraventricular septal defect, and deafness" ; + skos:exactMatch UMLS:C1865182 . OMIM:602562 a owl:Class ; rdfs:label "mandibulofacial dysostosis with macroblepharon and macrostomia" ; IAO:0000142 PMID:23448909, PMID:9018413 ; - oboInOwl:hasDbXref UMLS:C1865181 ; oboInOwl:hasExactSynonym "macroblepharon, ectropion, hypertelorism, and macrostomia", "mandibulofacial dysostosis with macroblepharon and macrostomia", - "verloes-lesenfants syndrome" . + "verloes-lesenfants syndrome" ; + skos:exactMatch UMLS:C1865181 . OMIM:602563 a owl:Class ; rdfs:label "NKX6-1" ; @@ -157999,7 +162649,6 @@ OMIM:602563 a owl:Class ; PMID:15883383, PMID:27164028, PMID:9119408 ; - oboInOwl:hasDbXref UMLS:C1417738 ; oboInOwl:hasExactSynonym "NKX6-1", "homeobox 6a, nk", "nk homeobox, family 6, member a", @@ -158008,14 +162657,16 @@ OMIM:602563 a owl:Class ; "nkx6.1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4825 ; - skos:exactMatch HGNC_symbol:NKX6-1 ; + skos:exactMatch UMLS:C1417738, + HGNC:7839, + HGNC_symbol:NKX6-1 ; biolink:category biolink:Gene . OMIM:602564 a owl:Class ; rdfs:label "emphysema, congenital, with deafness, penoscrotal web, and mental retardation" ; IAO:0000142 PMID:9018416 ; - oboInOwl:hasDbXref UMLS:C1865180 ; - oboInOwl:hasExactSynonym "emphysema, congenital, with deafness, penoscrotal web, and mental retardation" . + oboInOwl:hasExactSynonym "emphysema, congenital, with deafness, penoscrotal web, and mental retardation" ; + skos:exactMatch UMLS:C1865180 . OMIM:602565 a owl:Class ; rdfs:label "CCL25" ; @@ -158026,14 +162677,15 @@ OMIM:602565 a owl:Class ; PMID:15557349, PMID:9285413, PMID:9722960 ; - oboInOwl:hasDbXref UMLS:C1332688 ; oboInOwl:hasExactSynonym "CCL25", "chemokine, cc motif, ligand 25", "small inducible cytokine subfamily a, member 25", "thymus-expressed chemokine" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6370 ; - skos:exactMatch HGNC_symbol:CCL25 ; + skos:exactMatch UMLS:C1332688, + HGNC:10624, + HGNC_symbol:CCL25 ; biolink:category biolink:Gene . OMIM:602566 a owl:Class ; @@ -158057,13 +162709,14 @@ OMIM:602566 a owl:Class ; PMID:31862710, PMID:9038151, PMID:9826911 ; - oboInOwl:hasDbXref UMLS:C1418215 ; oboInOwl:hasExactSynonym "P2RX7", "purinergic receptor p2x, ligand-gated ion channel, 7", "purinoceptor p2x7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5027 ; - skos:exactMatch HGNC_symbol:P2RX7 ; + skos:exactMatch UMLS:C1418215, + HGNC:8537, + HGNC_symbol:P2RX7 ; biolink:category biolink:Gene . OMIM:602567 a owl:Class ; @@ -158073,14 +162726,15 @@ OMIM:602567 a owl:Class ; PMID:18063582, PMID:31091373, PMID:7517666 ; - oboInOwl:hasDbXref UMLS:C1366510 ; oboInOwl:hasExactSynonym "LIMS1", "lim and senescent cell antigen-like domains 1", "lim zinc finger-containing protein 1", "particularly interesting new cys-his protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3987 ; - skos:exactMatch HGNC_symbol:LIMS1 ; + skos:exactMatch UMLS:C1366510, + HGNC:6616, + HGNC_symbol:LIMS1 ; biolink:category biolink:Gene . OMIM:602568 a owl:Class ; @@ -158102,13 +162756,14 @@ OMIM:602568 a owl:Class ; PMID:9501215 ; RO:0002525 CHR:9606chr5p15.31 ; RO:0003303 OMIM:601634 ; - oboInOwl:hasDbXref UMLS:C1417458 ; oboInOwl:hasExactSynonym "MTRR", "methionine synthase reductase", "msr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4552 ; - skos:exactMatch HGNC_symbol:MTRR ; + skos:exactMatch UMLS:C1417458, + HGNC:7473, + HGNC_symbol:MTRR ; biolink:category biolink:Gene . OMIM:602569 a owl:Class ; @@ -158123,25 +162778,27 @@ OMIM:602569 a owl:Class ; PMID:9806846 ; RO:0002525 CHR:9606chr5q35.2 ; RO:0003303 OMIM:127750 ; - oboInOwl:hasDbXref UMLS:C1420278 ; oboInOwl:hasExactSynonym "SNCB", "synuclein, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6620 ; - skos:exactMatch HGNC_symbol:SNCB ; + skos:exactMatch UMLS:C1420278, + HGNC:11140, + HGNC_symbol:SNCB ; biolink:category biolink:Gene . OMIM:602571 a owl:Class ; rdfs:label "RBM4" ; IAO:0000142 PMID:22678294, PMID:9169144 ; - oboInOwl:hasDbXref UMLS:C1419300 ; oboInOwl:hasExactSynonym "RBM4", "lark, drosophila, homolog of", "rna-binding motif protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5936 ; - skos:exactMatch HGNC_symbol:RBM4 ; + skos:exactMatch UMLS:C1419300, + HGNC:9901, + HGNC_symbol:RBM4 ; biolink:category biolink:Gene . OMIM:602572 a owl:Class ; @@ -158152,28 +162809,30 @@ OMIM:602572 a owl:Class ; PMID:9503022 ; RO:0002525 CHR:9606chr10q22.3 ; RO:0003303 OMIM:619733 ; - oboInOwl:hasDbXref UMLS:C1456375 ; oboInOwl:hasExactSynonym "ANXA11", "annexin 11", "annexin a11", "autoantigen, 56-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:311 ; - skos:exactMatch HGNC_symbol:ANXA11 ; + skos:exactMatch UMLS:C1456375, + HGNC:535, + HGNC_symbol:ANXA11 ; biolink:category biolink:Gene . OMIM:602573 a owl:Class ; rdfs:label "ANXA13" ; IAO:0000142 PMID:1530946, PMID:9503022 ; - oboInOwl:hasDbXref UMLS:C1412419 ; oboInOwl:hasExactSynonym "ANXA13", "annexin 13", "annexin a13", "annexin, intestine-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:312 ; - skos:exactMatch HGNC_symbol:ANXA13 ; + skos:exactMatch UMLS:C1412419, + HGNC:536, + HGNC_symbol:ANXA13 ; biolink:category biolink:Gene . OMIM:602574 a owl:Class ; @@ -158197,12 +162856,13 @@ OMIM:602574 a owl:Class ; PMID:9949200 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:603629 ; - oboInOwl:hasDbXref UMLS:C1420683 ; oboInOwl:hasExactSynonym "TECTA", "tectorin, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7007 ; - skos:exactMatch HGNC_symbol:TECTA ; + skos:exactMatch UMLS:C1420683, + HGNC:11720, + HGNC_symbol:TECTA ; biolink:category biolink:Gene . OMIM:602575 a owl:Class ; @@ -158235,15 +162895,16 @@ OMIM:602575 a owl:Class ; PMID:9837817 ; RO:0002525 CHR:9606chr9q33.3 ; RO:0003303 OMIM:161200 ; - oboInOwl:hasDbXref UMLS:C0027341, - UMLS:C0403548, - UMLS:C1416890 ; oboInOwl:hasExactSynonym "LMX1B", "lim homeobox transcription factor 1, beta", "lmx1.2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4010 ; - skos:exactMatch HGNC_symbol:LMX1B ; + skos:exactMatch UMLS:C0027341, + UMLS:C0403548, + UMLS:C1416890, + HGNC:6654, + HGNC_symbol:LMX1B ; biolink:category biolink:Gene . OMIM:602576 a owl:Class ; @@ -158267,15 +162928,16 @@ OMIM:602576 a owl:Class ; PMID:9878264 ; RO:0002525 CHR:9606chr7p22.3 ; RO:0003303 OMIM:609813 ; - oboInOwl:hasDbXref UMLS:C1416828, - UMLS:C1853296 ; oboInOwl:hasExactSynonym "LFNG", "fringe, drosophila, homolog of, lunatic", "lfng o-fucosylpeptide 3-beta-n-acetylglucosaminyltransferase", "lunatic fringe" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3955 ; - skos:exactMatch HGNC_symbol:LFNG ; + skos:exactMatch UMLS:C1416828, + UMLS:C1853296, + HGNC:6560, + HGNC_symbol:LFNG ; biolink:category biolink:Gene . OMIM:602577 a owl:Class ; @@ -158286,14 +162948,15 @@ OMIM:602577 a owl:Class ; PMID:10935637, PMID:9187150, PMID:9878264 ; - oboInOwl:hasDbXref UMLS:C1334504 ; oboInOwl:hasExactSynonym "MFNG", "fringe, drosophila, homolog of, manic", "manic fringe", "mfng o-fucosylpeptide 3-beta-n-acetylglucosaminyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4242 ; - skos:exactMatch HGNC_symbol:MFNG ; + skos:exactMatch UMLS:C1334504, + HGNC:7038, + HGNC_symbol:MFNG ; biolink:category biolink:Gene . OMIM:602578 a owl:Class ; @@ -158304,14 +162967,15 @@ OMIM:602578 a owl:Class ; PMID:9121551, PMID:9121552, PMID:9187150 ; - oboInOwl:hasDbXref UMLS:C1419353 ; oboInOwl:hasExactSynonym "RFNG", "fringe, drosophila, homolog of, radical", "radical fringe", "rfng o-fucosylpeptide 3-beta-n-acetylglucosaminyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5986 ; - skos:exactMatch HGNC_symbol:RFNG ; + skos:exactMatch UMLS:C1419353, + HGNC:9974, + HGNC_symbol:RFNG ; biolink:category biolink:Gene . OMIM:602580 a owl:Class ; @@ -158320,7 +162984,6 @@ OMIM:602580 a owl:Class ; PMID:25359980, PMID:8315394, PMID:9628863 ; - oboInOwl:hasDbXref UMLS:C1415174 ; oboInOwl:hasExactSynonym "GOLGA2", "gm130", "golgi autoantigen, golgin subfamily a, 2", @@ -158328,7 +162991,9 @@ OMIM:602580 a owl:Class ; "golgin a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2801 ; - skos:exactMatch HGNC_symbol:GOLGA2 ; + skos:exactMatch UMLS:C1415174, + HGNC:4425, + HGNC_symbol:GOLGA2 ; biolink:category biolink:Gene . OMIM:602581 a owl:Class ; @@ -158337,7 +163002,6 @@ OMIM:602581 a owl:Class ; PMID:12130652, PMID:8315394, PMID:9295333 ; - oboInOwl:hasDbXref UMLS:C1415175 ; oboInOwl:hasExactSynonym "GOLGA3", "golgi autoantigen, golgin subfamily a, 3", "golgin 160", @@ -158345,7 +163009,9 @@ OMIM:602581 a owl:Class ; "mea2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2802 ; - skos:exactMatch HGNC_symbol:GOLGA3 ; + skos:exactMatch UMLS:C1415175, + HGNC:4426, + HGNC_symbol:GOLGA3 ; biolink:category biolink:Gene . OMIM:602582 a owl:Class ; @@ -158359,13 +163025,14 @@ OMIM:602582 a owl:Class ; PMID:7716513, PMID:8401577, PMID:9590294 ; - oboInOwl:hasDbXref UMLS:C1333256 ; oboInOwl:hasExactSynonym "DTX1", "deltex e3 ubiquitin ligase 1", "deltex, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1840 ; - skos:exactMatch HGNC_symbol:DTX1 ; + skos:exactMatch UMLS:C1333256, + HGNC:3060, + HGNC_symbol:DTX1 ; biolink:category biolink:Gene . OMIM:602583 a owl:Class ; @@ -158376,13 +163043,14 @@ OMIM:602583 a owl:Class ; PMID:25130661, PMID:9144577, PMID:9339362 ; - oboInOwl:hasDbXref UMLS:C1415231 ; oboInOwl:hasExactSynonym "GPR37", "g protein-coupled receptor 37", "parkin-associated endothelin receptor-like receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2861 ; - skos:exactMatch HGNC_symbol:GPR37 ; + skos:exactMatch UMLS:C1415231, + HGNC:4494, + HGNC_symbol:GPR37 ; biolink:category biolink:Gene . OMIM:602584 a owl:Class ; @@ -158392,14 +163060,15 @@ OMIM:602584 a owl:Class ; PMID:8849440, PMID:9168930, PMID:9533013 ; - oboInOwl:hasDbXref UMLS:C1335606 ; oboInOwl:hasExactSynonym "RCN2", "endoplasmic reticulum calcium-binding protein, 55-kd", "reticulocalbin 2", "tcbp49" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5955 ; - skos:exactMatch HGNC_symbol:RCN2 ; + skos:exactMatch UMLS:C1335606, + HGNC:9935, + HGNC_symbol:RCN2 ; biolink:category biolink:Gene . OMIM:602585 a owl:Class ; @@ -158419,7 +163088,6 @@ OMIM:602587 a owl:Class ; PMID:8631842, PMID:9125130, PMID:9163348 ; - oboInOwl:hasDbXref UMLS:C1825831 ; oboInOwl:hasExactSynonym "ACOT7", "acyl-coa hydrolase, long-chain, brain", "acyl-coa hydrolase, long-chain, liver", @@ -158431,7 +163099,9 @@ OMIM:602587 a owl:Class ; "cte-ii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11332 ; - skos:exactMatch HGNC_symbol:ACOT7 ; + skos:exactMatch UMLS:C1825831, + HGNC:24157, + HGNC_symbol:ACOT7 ; biolink:category biolink:Gene . OMIM:602589 a owl:Class ; @@ -158444,13 +163114,14 @@ OMIM:602589 a owl:Class ; PMID:9368041 ; RO:0002525 CHR:9606chr14q23.3 ; RO:0003303 OMIM:618005 ; - oboInOwl:hasDbXref UMLS:C1414869 ; oboInOwl:hasExactSynonym "FUT8", "alpha-1,6-fucosyltransferase", "fucosyltransferase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2530 ; - skos:exactMatch HGNC_symbol:FUT8 ; + skos:exactMatch UMLS:C1414869, + HGNC:4019, + HGNC_symbol:FUT8 ; biolink:category biolink:Gene . OMIM:602590 a owl:Class ; @@ -158473,13 +163144,14 @@ OMIM:602590 a owl:Class ; PMID:9533029 ; RO:0002525 CHR:9606chr11q13.5-q14.1 ; RO:0003303 OMIM:618158 ; - oboInOwl:hasDbXref UMLS:C1418259 ; oboInOwl:hasExactSynonym "PAK1", "p21 cdc42/rac1-activated kinase 1", "p21 protein-activated kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5058 ; - skos:exactMatch HGNC_symbol:PAK1 ; + skos:exactMatch UMLS:C1418259, + HGNC:8590, + HGNC_symbol:PAK1 ; biolink:category biolink:Gene . OMIM:602591 a owl:Class ; @@ -158491,20 +163163,20 @@ OMIM:602591 a owl:Class ; PMID:9177777 ; RO:0002525 CHR:9606chr5q12.1 ; RO:0003303 OMIM:615411 ; - oboInOwl:hasDbXref UMLS:C1825705 ; oboInOwl:hasExactSynonym "KIF2A", "kif2", "kinesin heavy chain member 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3796 ; - skos:exactMatch HGNC_symbol:KIF2A ; + skos:exactMatch UMLS:C1825705, + HGNC:6318, + HGNC_symbol:KIF2A ; biolink:category biolink:Gene . OMIM:602592 a owl:Class ; rdfs:label "CD5L" ; IAO:0000142 PMID:16054063, PMID:9045627 ; - oboInOwl:hasDbXref UMLS:C1413231 ; oboInOwl:hasExactSynonym "CD5L", "apoptosis inhibitor 6", "apoptosis inhibitor of macrophages", @@ -158513,7 +163185,9 @@ OMIM:602592 a owl:Class ; "sp-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:922 ; - skos:exactMatch HGNC_symbol:CD5L ; + skos:exactMatch UMLS:C1413231, + HGNC:1690, + HGNC_symbol:CD5L ; biolink:category biolink:Gene . OMIM:602593 a owl:Class ; @@ -158537,13 +163211,14 @@ OMIM:602593 a owl:Class ; PMID:9395522 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:270300 ; - oboInOwl:hasDbXref UMLS:C1413299 ; oboInOwl:hasExactSynonym "CDSN", "corneodesmosin", "s gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1041 ; - skos:exactMatch HGNC_symbol:CDSN ; + skos:exactMatch UMLS:C1413299, + HGNC:1802, + HGNC_symbol:CDSN ; biolink:category biolink:Gene . OMIM:602595 a owl:Class ; @@ -158556,33 +163231,35 @@ OMIM:602595 a owl:Class ; PMID:17023415, PMID:9323129, PMID:9323130 ; - oboInOwl:hasDbXref UMLS:C1420069 ; oboInOwl:hasExactSynonym "GEMIN2", "gem nuclear organelle-associated protein 2", "gem-associated protein 2", "smn-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8487 ; - skos:exactMatch HGNC_symbol:GEMIN2 ; + skos:exactMatch UMLS:C1420069, + HGNC:10884, + HGNC_symbol:GEMIN2 ; biolink:category biolink:Gene . OMIM:602596 a owl:Class ; rdfs:label "pancreatic lymphoma, familial" ; IAO:0000142 PMID:9577380 ; - oboInOwl:hasDbXref UMLS:C1865139 ; - oboInOwl:hasExactSynonym "pancreatic lymphoma, familial" . + oboInOwl:hasExactSynonym "pancreatic lymphoma, familial" ; + skos:exactMatch UMLS:C1865139 . OMIM:602597 a owl:Class ; rdfs:label "BCL9" ; IAO:0000142 PMID:11955446, PMID:9490669 ; - oboInOwl:hasDbXref UMLS:C1332402 ; oboInOwl:hasExactSynonym "BCL9", "b-cell cll/lymphoma 9", "legless, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:607 ; - skos:exactMatch HGNC_symbol:BCL9 ; + skos:exactMatch UMLS:C1332402, + HGNC:1008, + HGNC_symbol:BCL9 ; biolink:category biolink:Gene . OMIM:602598 a owl:Class ; @@ -158593,13 +163270,14 @@ OMIM:602598 a owl:Class ; PMID:16547141, PMID:9323136, PMID:9353279 ; - oboInOwl:hasDbXref UMLS:C1865138 ; oboInOwl:hasExactSynonym "HPGDS", "pgds", "prostaglandin d synthase, hematopoietic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27306 ; - skos:exactMatch HGNC_symbol:HPGDS ; + skos:exactMatch UMLS:C1865138, + HGNC:17890, + HGNC_symbol:HPGDS ; biolink:category biolink:Gene . OMIM:602599 a owl:Class ; @@ -158618,13 +163296,14 @@ OMIM:602600 a owl:Class ; PMID:9079678 ; RO:0002525 CHR:9606chr1p32.3 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1416919 ; oboInOwl:hasExactSynonym "LRP8", "apolipoprotein e receptor 2", "low density lipoprotein receptor-related protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7804 ; - skos:exactMatch HGNC_symbol:LRP8 ; + skos:exactMatch UMLS:C1416919, + HGNC:6700, + HGNC_symbol:LRP8 ; biolink:category biolink:Gene . OMIM:602601 a owl:Class ; @@ -158645,26 +163324,28 @@ OMIM:602601 a owl:Class ; PMID:9837956 ; RO:0002525 CHR:9606chr12p13.2 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1417947 ; oboInOwl:hasExactSynonym "OLR1", "lectin-like oxidized-ldl receptor 1", "low density lipoprotein, oxidized, receptor 1", "oxidized low density lipoprotein receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4973 ; - skos:exactMatch HGNC_symbol:OLR1 ; + skos:exactMatch UMLS:C1417947, + HGNC:8133, + HGNC_symbol:OLR1 ; biolink:category biolink:Gene . OMIM:602602 a owl:Class ; rdfs:label "SECTM1" ; IAO:0000142 PMID:9480746 ; - oboInOwl:hasDbXref UMLS:C1335807 ; oboInOwl:hasExactSynonym "SECTM1", "k12", "secreted and transmembrane 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6398 ; - skos:exactMatch HGNC_symbol:SECTM1 ; + skos:exactMatch UMLS:C1335807, + HGNC:10707, + HGNC_symbol:SECTM1 ; biolink:category biolink:Gene . OMIM:602603 a owl:Class ; @@ -158672,13 +163353,14 @@ OMIM:602603 a owl:Class ; IAO:0000142 PMID:14973490, PMID:15118729, PMID:9479507 ; - oboInOwl:hasDbXref UMLS:C1416987 ; oboInOwl:hasExactSynonym "MAGOH", "mago homolog, exon junction complex subunit", "mago nashi, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4116 ; - skos:exactMatch HGNC_symbol:MAGOH ; + skos:exactMatch UMLS:C1416987, + HGNC:6815, + HGNC_symbol:MAGOH ; biolink:category biolink:Gene . OMIM:602604 a owl:Class ; @@ -158705,13 +163387,14 @@ OMIM:602606 a owl:Class ; PMID:9883730 ; RO:0002525 CHR:9606chr5q13.2 ; RO:0003303 OMIM:601665 ; - oboInOwl:hasDbXref UMLS:C1824528 ; oboInOwl:hasExactSynonym "CARTPT", "cart prepropeptide", "cocaine- and amphetamine-regulated transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9607 ; - skos:exactMatch HGNC_symbol:CARTPT ; + skos:exactMatch UMLS:C1824528, + HGNC:24323, + HGNC_symbol:CARTPT ; biolink:category biolink:Gene . OMIM:602607 a owl:Class ; @@ -158724,13 +163407,14 @@ OMIM:602607 a owl:Class ; PMID:9187257, PMID:9260930, PMID:9605850 ; - oboInOwl:hasDbXref UMLS:C1420134 ; oboInOwl:hasExactSynonym "SLC22A1", "organic cation transporter 1", "solute carrier family 22 (organic cation transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6580 ; - skos:exactMatch HGNC_symbol:SLC22A1 ; + skos:exactMatch UMLS:C1420134, + HGNC:10963, + HGNC_symbol:SLC22A1 ; biolink:category biolink:Gene . OMIM:602608 a owl:Class ; @@ -158741,26 +163425,28 @@ OMIM:602608 a owl:Class ; PMID:21553234, PMID:9260930, PMID:9605850 ; - oboInOwl:hasDbXref UMLS:C1420137 ; oboInOwl:hasExactSynonym "SLC22A2", "organic cation transporter 2", "solute carrier family 22 (organic cation transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6582 ; - skos:exactMatch HGNC_symbol:SLC22A2 ; + skos:exactMatch UMLS:C1420137, + HGNC:10966, + HGNC_symbol:SLC22A2 ; biolink:category biolink:Gene . OMIM:602609 a owl:Class ; rdfs:label "PIK3C3" ; IAO:0000142 PMID:20339072, PMID:7628435 ; - oboInOwl:hasDbXref UMLS:C1418574 ; oboInOwl:hasExactSynonym "PIK3C3", "phosphatidylinositol 3-kinase, class 3", "vps34, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5289 ; - skos:exactMatch HGNC_symbol:PIK3C3 ; + skos:exactMatch UMLS:C1418574, + HGNC:8974, + HGNC_symbol:PIK3C3 ; biolink:category biolink:Gene . OMIM:602610 a owl:Class ; @@ -158768,35 +163454,36 @@ OMIM:602610 a owl:Class ; IAO:0000142 PMID:27882921, PMID:29311744, PMID:8999962 ; - oboInOwl:hasDbXref UMLS:C1418578 ; oboInOwl:hasExactSynonym "PIK3R4", "p150", "phosphatidylinositol 3-kinase, regulatory subunit 4", "vps15, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30849 ; - skos:exactMatch HGNC_symbol:PIK3R4 ; + skos:exactMatch UMLS:C1418578, + HGNC:8982, + HGNC_symbol:PIK3R4 ; biolink:category biolink:Gene . OMIM:602611 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" ; IAO:0000142 PMID:9557884 ; - oboInOwl:hasDbXref UMLS:C1865134 ; - oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" . + oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" ; + skos:exactMatch UMLS:C1865134 . OMIM:602612 a owl:Class ; rdfs:label "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" ; IAO:0000142 PMID:16688750, PMID:6437708, PMID:9557890 ; - oboInOwl:hasDbXref UMLS:C1865133 ; - oboInOwl:hasExactSynonym "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" . + oboInOwl:hasExactSynonym "camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" ; + skos:exactMatch UMLS:C1865133 . OMIM:602613 a owl:Class ; rdfs:label "skeletal dysplasia and progressive central nervous system degeneration, lethal" ; IAO:0000142 PMID:9557897 ; - oboInOwl:hasDbXref UMLS:C1865117 ; - oboInOwl:hasExactSynonym "skeletal dysplasia and progressive central nervous system degeneration, lethal" . + oboInOwl:hasExactSynonym "skeletal dysplasia and progressive central nervous system degeneration, lethal" ; + skos:exactMatch UMLS:C1865117 . OMIM:602614 a owl:Class ; rdfs:label "MAP3K7" ; @@ -158821,7 +163508,6 @@ OMIM:602614 a owl:Class ; PMID:9480845 ; RO:0002525 CHR:9606chr6q15 ; RO:0003303 OMIM:617137 ; - oboInOwl:hasDbXref UMLS:C1334477 ; oboInOwl:hasExactSynonym "MAP3K7", "mitogen-activated protein kinase kinase kinase 7", "tak1a", @@ -158832,14 +163518,15 @@ OMIM:602614 a owl:Class ; "transforming growth factor-beta-activated kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6885 ; - skos:exactMatch HGNC_symbol:MAP3K7 ; + skos:exactMatch UMLS:C1334477, + HGNC:6859, + HGNC_symbol:MAP3K7 ; biolink:category biolink:Gene . OMIM:602615 a owl:Class ; rdfs:label "TAB1" ; IAO:0000142 PMID:11847341, PMID:8638164 ; - oboInOwl:hasDbXref UMLS:C1334476 ; oboInOwl:hasExactSynonym "TAB1", "mitogen-activated protein kinase kinase kinase 7-interacting protein 1", "tak1-binding protein 1", @@ -158847,7 +163534,9 @@ OMIM:602615 a owl:Class ; "tgf-beta-activated kinase 1/map3k7-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10454 ; - skos:exactMatch HGNC_symbol:TAB1 ; + skos:exactMatch UMLS:C1334476, + HGNC:18157, + HGNC_symbol:TAB1 ; biolink:category biolink:Gene . OMIM:602616 a owl:Class ; @@ -158859,7 +163548,6 @@ OMIM:602616 a owl:Class ; PMID:8808595 ; RO:0002525 CHR:9606chr14q21.3 ; RO:0003303 OMIM:212066 ; - oboInOwl:hasDbXref UMLS:C1417134 ; oboInOwl:hasExactSynonym "MGAT2", "alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase", "glcnac-t 2", @@ -158867,7 +163555,9 @@ OMIM:602616 a owl:Class ; "udp-n-acetylglucosamine:alpha-6-d-mannoside beta-1,2-n-acetylglucosaminyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4247 ; - skos:exactMatch HGNC_symbol:MGAT2 ; + skos:exactMatch UMLS:C1417134, + HGNC:7045, + HGNC_symbol:MGAT2 ; biolink:category biolink:Gene . OMIM:602618 a owl:Class ; @@ -158889,12 +163579,13 @@ OMIM:602618 a owl:Class ; PMID:9858600 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:617915 ; - oboInOwl:hasDbXref UMLS:C1332799 ; oboInOwl:hasExactSynonym "CTBP1", "c-terminal-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1487 ; - skos:exactMatch HGNC_symbol:CTBP1 ; + skos:exactMatch UMLS:C1332799, + HGNC:2494, + HGNC_symbol:CTBP1 ; biolink:category biolink:Gene . OMIM:602619 a owl:Class ; @@ -158908,12 +163599,13 @@ OMIM:602619 a owl:Class ; PMID:9479502, PMID:9724649, PMID:9858600 ; - oboInOwl:hasDbXref UMLS:C1332800 ; oboInOwl:hasExactSynonym "CTBP2", "c-terminal-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1488 ; - skos:exactMatch HGNC_symbol:CTBP2 ; + skos:exactMatch UMLS:C1332800, + HGNC:2495, + HGNC_symbol:CTBP2 ; biolink:category biolink:Gene . OMIM:602620 a owl:Class ; @@ -158921,14 +163613,15 @@ OMIM:602620 a owl:Class ; IAO:0000142 PMID:18374643, PMID:8893817, PMID:9065484 ; - oboInOwl:hasDbXref UMLS:C1456349 ; oboInOwl:hasExactSynonym "LGMN", "asparaginyl endopeptidase", "legumain", "protease, cysteine, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5641 ; - skos:exactMatch HGNC_symbol:LGMN ; + skos:exactMatch UMLS:C1456349, + HGNC:9472, + HGNC_symbol:LGMN ; biolink:category biolink:Gene . OMIM:602621 a owl:Class ; @@ -158941,7 +163634,6 @@ OMIM:602621 a owl:Class ; PMID:9036860, PMID:9096397, PMID:9144533 ; - oboInOwl:hasDbXref UMLS:C1413828 ; oboInOwl:hasExactSynonym "CXADR", "car", "coxsackievirus B receptor", @@ -158949,7 +163641,9 @@ OMIM:602621 a owl:Class ; "cvb3 binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1525 ; - skos:exactMatch HGNC_symbol:CXADR ; + skos:exactMatch UMLS:C1413828, + HGNC:2559, + HGNC_symbol:CXADR ; biolink:category biolink:Gene . OMIM:602622 a owl:Class ; @@ -158957,12 +163651,13 @@ OMIM:602622 a owl:Class ; IAO:0000142 PMID:15203207, PMID:1577479, PMID:9205125 ; - oboInOwl:hasDbXref UMLS:C1414109 ; oboInOwl:hasExactSynonym "DNASE1L2", "deoxyribonuclease i-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1775 ; - skos:exactMatch HGNC_symbol:DNASE1L2 ; + skos:exactMatch UMLS:C1414109, + HGNC:2958, + HGNC_symbol:DNASE1L2 ; biolink:category biolink:Gene . OMIM:602623 a owl:Class ; @@ -158978,14 +163673,15 @@ OMIM:602623 a owl:Class ; PMID:9125197 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:608516 ; - oboInOwl:hasDbXref UMLS:C1414627 ; oboInOwl:hasExactSynonym "FKBP5", "fk506-binding protein 5", "fk506-binding protein, 51-kd", "fkbp54" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2289 ; - skos:exactMatch HGNC_symbol:FKBP5 ; + skos:exactMatch UMLS:C1414627, + HGNC:3721, + HGNC_symbol:FKBP5 ; biolink:category biolink:Gene . OMIM:602624 a owl:Class ; @@ -159003,7 +163699,6 @@ OMIM:602625 a owl:Class ; PMID:9395497, PMID:9647693, PMID:9647739 ; - oboInOwl:hasDbXref UMLS:C1427865 ; oboInOwl:hasExactSynonym "MAGI1", "bai1-associated protein 1", "maguk with inverted structure 1", @@ -159013,7 +163708,9 @@ OMIM:602625 a owl:Class ; "ww domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9223 ; - skos:exactMatch HGNC_symbol:MAGI1 ; + skos:exactMatch UMLS:C1427865, + HGNC:946, + HGNC_symbol:MAGI1 ; biolink:category biolink:Gene . OMIM:602626 a owl:Class ; @@ -159024,13 +163721,14 @@ OMIM:602626 a owl:Class ; PMID:9065432, PMID:9371760, PMID:9479509 ; - oboInOwl:hasDbXref UMLS:C1416397 ; oboInOwl:hasExactSynonym "IL1RAP", "il1racp", "interleukin 1 receptor accessory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3556 ; - skos:exactMatch HGNC_symbol:IL1RAP ; + skos:exactMatch UMLS:C1416397, + HGNC:5995, + HGNC_symbol:IL1RAP ; biolink:category biolink:Gene . OMIM:602627 a owl:Class ; @@ -159047,7 +163745,6 @@ OMIM:602627 a owl:Class ; PMID:9566895 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:613805 ; - oboInOwl:hasDbXref UMLS:C1332725 ; oboInOwl:hasExactSynonym "CDC6", "cell cycle controller cdc6", "cell division cycle 18, s. pombe, homolog-like", @@ -159055,20 +163752,23 @@ OMIM:602627 a owl:Class ; "cell division cycle 6, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:990 ; - skos:exactMatch HGNC_symbol:CDC6 ; + skos:exactMatch UMLS:C1332725, + HGNC:1744, + HGNC_symbol:CDC6 ; biolink:category biolink:Gene . OMIM:602628 a owl:Class ; rdfs:label "FOXN3" ; IAO:0000142 PMID:16102918, PMID:9154802 ; - oboInOwl:hasDbXref UMLS:C0812250 ; oboInOwl:hasExactSynonym "FOXN3", "checkpoint suppressor 1", "forkhead box n3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1112 ; - skos:exactMatch HGNC_symbol:FOXN3 ; + skos:exactMatch UMLS:C0812250, + HGNC:1928, + HGNC_symbol:FOXN3 ; biolink:category biolink:Gene . OMIM:602630 a owl:Class ; @@ -159088,14 +163788,15 @@ OMIM:602630 a owl:Class ; PMID:8901052 ; RO:0002525 CHR:9606chr18p11.31 ; RO:0003303 OMIM:142946 ; - oboInOwl:hasDbXref UMLS:C1420712 ; oboInOwl:hasExactSynonym "TGIF", "tg-interacting factor", "tgfb-induced factor", "transforming growth factor-beta-induced factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7050 ; - skos:exactMatch HGNC_symbol:TGIF1 ; + skos:exactMatch UMLS:C1420712, + HGNC:11776, + HGNC_symbol:TGIF1 ; biolink:category biolink:Gene . OMIM:602632 a owl:Class ; @@ -159107,7 +163808,6 @@ OMIM:602632 a owl:Class ; PMID:26864383, PMID:9188463, PMID:9339384 ; - oboInOwl:hasDbXref UMLS:C1418724 ; oboInOwl:hasExactSynonym "PODXL", "gp200", "podocalyxin", @@ -159115,7 +163815,9 @@ OMIM:602632 a owl:Class ; "podocalyxin-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5420 ; - skos:exactMatch HGNC_symbol:PODXL ; + skos:exactMatch UMLS:C1418724, + HGNC:9171, + HGNC_symbol:PODXL ; biolink:category biolink:Gene . OMIM:602633 a owl:Class ; @@ -159132,28 +163834,30 @@ OMIM:602633 a owl:Class ; PMID:8753811, PMID:9150430, PMID:9573400 ; - oboInOwl:hasDbXref UMLS:C1333547 ; oboInOwl:hasExactSynonym "FHL2", "downregulated 1n rhabdomyosarcoma 51m protein", "four-and-a-half 51m domains 2", "slim3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2274 ; - skos:exactMatch HGNC_symbol:FHL2 ; + skos:exactMatch UMLS:C1333547, + HGNC:3703, + HGNC_symbol:FHL2 ; biolink:category biolink:Gene . OMIM:602634 a owl:Class ; rdfs:label "DNAJB9" ; IAO:0000142 PMID:24776803, PMID:9533036 ; - oboInOwl:hasDbXref UMLS:C1417086 ; oboInOwl:hasExactSynonym "DNAJB9", "dnaj/hsp40 homolog, subfamily b, member 9", "erdj4", "microvascular endothelial differentiation gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4189 ; - skos:exactMatch HGNC_symbol:DNAJB9 ; + skos:exactMatch UMLS:C1417086, + HGNC:6968, + HGNC_symbol:DNAJB9 ; biolink:category biolink:Gene . OMIM:602635 a owl:Class ; @@ -159176,11 +163880,6 @@ OMIM:602635 a owl:Class ; PMID:9417089 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:615828 ; - oboInOwl:hasDbXref UMLS:C1422833, - UMLS:C4014414, - UMLS:C4310683, - UMLS:C5394572, - UMLS:C5394573 ; oboInOwl:hasExactSynonym "DEAF1", "deaf1 transcription factor", "deaf1, drosophila, homolog of", @@ -159189,7 +163888,13 @@ OMIM:602635 a owl:Class ; "zinc finger mynd domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10522 ; - skos:exactMatch HGNC_symbol:DEAF1 ; + skos:exactMatch UMLS:C1422833, + UMLS:C4014414, + UMLS:C4310683, + UMLS:C5394572, + UMLS:C5394573, + HGNC:14677, + HGNC_symbol:DEAF1 ; biolink:category biolink:Gene . OMIM:602636 a owl:Class ; @@ -159197,7 +163902,6 @@ OMIM:602636 a owl:Class ; IAO:0000142 PMID:7499293, PMID:7524097, PMID:9153239 ; - oboInOwl:hasDbXref UMLS:C1418833 ; oboInOwl:hasExactSynonym "PPP1R8", "activator of RNA decay", "nuclear inhibitor of protein phosphatase 1", @@ -159205,7 +163909,9 @@ OMIM:602636 a owl:Class ; "rnase e, e. coli, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5511 ; - skos:exactMatch HGNC_symbol:PPP1R8 ; + skos:exactMatch UMLS:C1418833, + HGNC:9296, + HGNC_symbol:PPP1R8 ; biolink:category biolink:Gene . OMIM:602637 a owl:Class ; @@ -159214,13 +163920,14 @@ OMIM:602637 a owl:Class ; PMID:15062857, PMID:7814406, PMID:9533032 ; - oboInOwl:hasDbXref UMLS:C1420370 ; oboInOwl:hasExactSynonym "SPP2", "secreted phosphoprotein 2", "secreted phosphoprotein, 24-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6694 ; - skos:exactMatch HGNC_symbol:SPP2 ; + skos:exactMatch UMLS:C1420370, + HGNC:11256, + HGNC_symbol:SPP2 ; biolink:category biolink:Gene . OMIM:602638 a owl:Class ; @@ -159241,7 +163948,6 @@ OMIM:602638 a owl:Class ; PMID:9465298 ; RO:0002525 CHR:9606chr8q11.21 ; RO:0003303 OMIM:609981 ; - oboInOwl:hasDbXref UMLS:C1334491 ; oboInOwl:hasExactSynonym "MCM4", "cdc21, s. pombe, homolog of", "cell division cycle 21, s. pombe, homolog of", @@ -159249,14 +163955,15 @@ OMIM:602638 a owl:Class ; "minichromosome maintenance, s. cerevisiae, homolog of, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4173 ; - skos:exactMatch HGNC_symbol:MCM4 ; + skos:exactMatch UMLS:C1334491, + HGNC:6947, + HGNC_symbol:MCM4 ; biolink:category biolink:Gene . OMIM:602640 a owl:Class ; rdfs:label "NAALADL1" ; IAO:0000142 PMID:10085079, PMID:9388249 ; - oboInOwl:hasDbXref UMLS:C1428129 ; oboInOwl:hasExactSynonym "NAALADL1", "i100, rat, homolog of", "ileal dipeptidylpeptidase", @@ -159264,7 +163971,9 @@ OMIM:602640 a owl:Class ; "naaladase 50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10004 ; - skos:exactMatch HGNC_symbol:NAALADL1 ; + skos:exactMatch UMLS:C1428129, + HGNC:23536, + HGNC_symbol:NAALADL1 ; biolink:category biolink:Gene . OMIM:602641 a owl:Class ; @@ -159278,13 +163987,14 @@ OMIM:602641 a owl:Class ; PMID:8493113, PMID:9168945, PMID:9790779 ; - oboInOwl:hasDbXref UMLS:C1414347 ; oboInOwl:hasExactSynonym "EIF4A1", "ddx2a", "eukaryotic translation initiation factor 4a, isoform 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1973 ; - skos:exactMatch HGNC_symbol:EIF4A1 ; + skos:exactMatch UMLS:C1414347, + HGNC:3282, + HGNC_symbol:EIF4A1 ; biolink:category biolink:Gene . OMIM:602642 a owl:Class ; @@ -159323,7 +164033,6 @@ OMIM:602642 a owl:Class ; PMID:9568710 ; RO:0002525 CHR:9606chr13q14.11 ; RO:0003303 OMIM:259710 ; - oboInOwl:hasDbXref UMLS:C1367028 ; oboInOwl:hasExactSynonym "TNFSF11", "osteoclast differentiation factor", "osteoprotegerin ligand", @@ -159332,7 +164041,9 @@ OMIM:602642 a owl:Class ; "tumor necrosis factor ligand superfamily, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8600 ; - skos:exactMatch HGNC_symbol:TNFSF11 ; + skos:exactMatch UMLS:C1367028, + HGNC:11926, + HGNC_symbol:TNFSF11 ; biolink:category biolink:Gene . OMIM:602643 a owl:Class ; @@ -159364,21 +164075,21 @@ OMIM:602643 a owl:Class ; PMID:9688283 ; RO:0002525 CHR:9606chr8q24.12 ; RO:0003303 OMIM:239000 ; - oboInOwl:hasDbXref UMLS:C1336645 ; oboInOwl:hasExactSynonym "TNFRSF11B", "osteoclastogenesis inhibitory factor", "osteoprotegerin", "tumor necrosis factor receptor superfamily, member 11b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4982 ; - skos:exactMatch HGNC_symbol:TNFRSF11B ; + skos:exactMatch UMLS:C1336645, + HGNC:11909, + HGNC_symbol:TNFRSF11B ; biolink:category biolink:Gene . OMIM:602644 a owl:Class ; rdfs:label "TSPAN4" ; IAO:0000142 PMID:9360996, PMID:9714763 ; - oboInOwl:hasDbXref UMLS:C1540084 ; oboInOwl:hasExactSynonym "TSPAN4", "novel antigen 2", "tetraspan", @@ -159386,7 +164097,9 @@ OMIM:602644 a owl:Class ; "transmembrane 4 superfamily, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7106 ; - skos:exactMatch HGNC_symbol:TSPAN4 ; + skos:exactMatch UMLS:C1540084, + HGNC:11859, + HGNC_symbol:TSPAN4 ; biolink:category biolink:Gene . OMIM:602645 a owl:Class ; @@ -159396,13 +164109,14 @@ OMIM:602645 a owl:Class ; PMID:26182416, PMID:9168980, PMID:9405678 ; - oboInOwl:hasDbXref UMLS:C1419944 ; oboInOwl:hasExactSynonym "SEMA3C", "semaphorin 3c", "semaphorin e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10512 ; - skos:exactMatch HGNC_symbol:SEMA3C ; + skos:exactMatch UMLS:C1419944, + HGNC:10725, + HGNC_symbol:SEMA3C ; biolink:category biolink:Gene . OMIM:602646 a owl:Class ; @@ -159410,13 +164124,14 @@ OMIM:602646 a owl:Class ; IAO:0000142 PMID:11017071, PMID:25411203, PMID:9479505 ; - oboInOwl:hasDbXref UMLS:C1415229 ; oboInOwl:hasExactSynonym "GPR35", "chemokine, cxc motif, receptor 8", "g protein-coupled receptor 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2859 ; - skos:exactMatch HGNC_symbol:GPR35 ; + skos:exactMatch UMLS:C1415229, + HGNC:4492, + HGNC_symbol:GPR35 ; biolink:category biolink:Gene . OMIM:602647 a owl:Class ; @@ -159432,14 +164147,15 @@ OMIM:602647 a owl:Class ; PMID:9182797, PMID:9214641, PMID:9660949 ; - oboInOwl:hasDbXref UMLS:C1417898 ; oboInOwl:hasExactSynonym "NXF1", "mex67, yeast, homolog of", "nuclear RNA export factor 1", "tip-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10482 ; - skos:exactMatch HGNC_symbol:NXF1 ; + skos:exactMatch UMLS:C1417898, + HGNC:8071, + HGNC_symbol:NXF1 ; biolink:category biolink:Gene . OMIM:602648 a owl:Class ; @@ -159451,7 +164167,6 @@ OMIM:602648 a owl:Class ; PMID:25297873, PMID:9364936, PMID:9405404 ; - oboInOwl:hasDbXref UMLS:C1332673 ; oboInOwl:hasExactSynonym "ACKR2", "atypical chemokine receptor 2", "chemokine-binding protein 2", @@ -159459,20 +164174,23 @@ OMIM:602648 a owl:Class ; "d6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1238 ; - skos:exactMatch HGNC_symbol:ACKR2 ; + skos:exactMatch UMLS:C1332673, + HGNC:1565, + HGNC_symbol:ACKR2 ; biolink:category biolink:Gene . OMIM:602649 a owl:Class ; rdfs:label "CIRBP" ; IAO:0000142 PMID:22923437, PMID:9434172 ; - oboInOwl:hasDbXref UMLS:C1413426 ; oboInOwl:hasExactSynonym "CIRBP", "cirp", "cold-inducible rna-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1153 ; - skos:exactMatch HGNC_symbol:CIRBP ; + skos:exactMatch UMLS:C1413426, + HGNC:1982, + HGNC_symbol:CIRBP ; biolink:category biolink:Gene . OMIM:602650 a owl:Class ; @@ -159489,15 +164207,16 @@ OMIM:602650 a owl:Class ; PMID:9414087 ; RO:0002525 CHR:9606chr17q21.33 ; RO:0003303 OMIM:618829 ; - oboInOwl:hasDbXref UMLS:C1420368, - UMLS:C2986382, - UMLS:C5394218, - UMLS:C5394221 ; oboInOwl:hasExactSynonym "SPOP", "speckle-type btb/poz protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8405 ; - skos:exactMatch HGNC_symbol:SPOP ; + skos:exactMatch UMLS:C1420368, + UMLS:C2986382, + UMLS:C5394218, + UMLS:C5394221, + HGNC:11254, + HGNC_symbol:SPOP ; biolink:category biolink:Gene . OMIM:602651 a owl:Class ; @@ -159507,14 +164226,15 @@ OMIM:602651 a owl:Class ; PMID:8016118, PMID:9479496, PMID:9581555 ; - oboInOwl:hasDbXref UMLS:C1417845 ; oboInOwl:hasExactSynonym "NRD1", "n-arginine dibasic convertase", "nardilysin", "nrd convertase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4898 ; - skos:exactMatch HGNC_symbol:NRDC ; + skos:exactMatch UMLS:C1417845, + HGNC:7995, + HGNC_symbol:NRDC ; biolink:category biolink:Gene . OMIM:602652 a owl:Class ; @@ -159525,7 +164245,6 @@ OMIM:602652 a owl:Class ; PMID:8898378, PMID:9003450, PMID:9312124 ; - oboInOwl:hasDbXref UMLS:C1416677 ; oboInOwl:hasExactSynonym "KLK6", "kallikrein 6", "kallikrein-related peptidase 6", @@ -159535,7 +164254,9 @@ OMIM:602652 a owl:Class ; "zyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5653 ; - skos:exactMatch HGNC_symbol:KLK6 ; + skos:exactMatch UMLS:C1416677, + HGNC:6367, + HGNC_symbol:KLK6 ; biolink:category biolink:Gene . OMIM:602653 a owl:Class ; @@ -159545,38 +164266,41 @@ OMIM:602653 a owl:Class ; PMID:11489885, PMID:9079715, PMID:9736748 ; - oboInOwl:hasDbXref UMLS:C1420684 ; oboInOwl:hasExactSynonym "TECTB", "tectorin, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6975 ; - skos:exactMatch HGNC_symbol:TECTB ; + skos:exactMatch UMLS:C1420684, + HGNC:11721, + HGNC_symbol:TECTB ; biolink:category biolink:Gene . OMIM:602654 a owl:Class ; rdfs:label "FARP1" ; IAO:0000142 PMID:25668492, PMID:9425278 ; - oboInOwl:hasDbXref UMLS:C1414533 ; oboInOwl:hasExactSynonym "FARP1", "chondrocyte-derived ezrin-like protein", "ferm, arhgef, and pleckstrin domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10160 ; - skos:exactMatch HGNC_symbol:FARP1 ; + skos:exactMatch UMLS:C1414533, + HGNC:3591, + HGNC_symbol:FARP1 ; biolink:category biolink:Gene . OMIM:602655 a owl:Class ; rdfs:label "SLC4A1AP" ; IAO:0000142 PMID:9422766 ; - oboInOwl:hasDbXref UMLS:C1422208 ; oboInOwl:hasExactSynonym "SLC4A1AP", "kanadaptin", "kidney anion exchanger adaptor protein", "solute carrier family 4 (anion exchanger), member 1, adaptor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22950 ; - skos:exactMatch HGNC_symbol:SLC4A1AP ; + skos:exactMatch UMLS:C1422208, + HGNC:13813, + HGNC_symbol:SLC4A1AP ; biolink:category biolink:Gene . OMIM:602656 a owl:Class ; @@ -159590,14 +164314,15 @@ OMIM:602656 a owl:Class ; PMID:9831664 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:616415 ; - oboInOwl:hasDbXref UMLS:C1417867 ; oboInOwl:hasExactSynonym "NTHL1", "endonuclease iii, e. coli, homolog of", "endonuclease iii-like 1", "octs3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4913 ; - skos:exactMatch HGNC_symbol:NTHL1 ; + skos:exactMatch UMLS:C1417867, + HGNC:8028, + HGNC_symbol:NTHL1 ; biolink:category biolink:Gene . OMIM:602657 a owl:Class ; @@ -159616,14 +164341,15 @@ OMIM:602658 a owl:Class ; PMID:9210593 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:619150 ; - oboInOwl:hasDbXref UMLS:C1418417, - UMLS:C5436894 ; oboInOwl:hasExactSynonym "PDE2A", "phosphodiesterase 2a", "phosphodiesterase 2a, cgmp-stimulated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5138 ; - skos:exactMatch HGNC_symbol:PDE2A ; + skos:exactMatch UMLS:C1418417, + UMLS:C5436894, + HGNC:8777, + HGNC_symbol:PDE2A ; biolink:category biolink:Gene . OMIM:602659 a owl:Class ; @@ -159633,14 +164359,15 @@ OMIM:602659 a owl:Class ; PMID:8521393, PMID:8521818, PMID:9465303 ; - oboInOwl:hasDbXref UMLS:C1417218 ; oboInOwl:hasExactSynonym "MNAT1", "mat1", "menage a trois 1", "tfb3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4331 ; - skos:exactMatch HGNC_symbol:MNAT1 ; + skos:exactMatch UMLS:C1417218, + HGNC:7181, + HGNC_symbol:MNAT1 ; biolink:category biolink:Gene . OMIM:602660 a owl:Class ; @@ -159650,7 +164377,6 @@ OMIM:602660 a owl:Class ; PMID:3999141 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:617879 ; - oboInOwl:hasDbXref UMLS:C1823554 ; oboInOwl:hasExactSynonym "TUBB4B", "tubulin, beta, class 4b", "tubulin, beta-2", @@ -159658,7 +164384,9 @@ OMIM:602660 a owl:Class ; "tubulin, beta-4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10383 ; - skos:exactMatch HGNC_symbol:TUBB4B ; + skos:exactMatch UMLS:C1823554, + HGNC:20771, + HGNC_symbol:TUBB4B ; biolink:category biolink:Gene . OMIM:602661 a owl:Class ; @@ -159680,14 +164408,15 @@ OMIM:602661 a owl:Class ; PMID:9473684 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:600638 ; - oboInOwl:hasDbXref UMLS:C1540126 ; oboInOwl:hasExactSynonym "TUBB3", "tubb4", "tubulin, beta, class 3", "tubulin, beta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10381 ; - skos:exactMatch HGNC_symbol:TUBB3 ; + skos:exactMatch UMLS:C1540126, + HGNC:20772, + HGNC_symbol:TUBB3 ; biolink:category biolink:Gene . OMIM:602662 a owl:Class ; @@ -159711,28 +164440,30 @@ OMIM:602662 a owl:Class ; PMID:7983175 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:612438 ; - oboInOwl:hasDbXref UMLS:C1540127 ; oboInOwl:hasExactSynonym "TUBB4A", "tubb4", "tubulin, beta, class 4a", "tubulin, beta-4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10382 ; - skos:exactMatch HGNC_symbol:TUBB4A ; + skos:exactMatch UMLS:C1540127, + HGNC:20774, + HGNC_symbol:TUBB4A ; biolink:category biolink:Gene . OMIM:602663 a owl:Class ; rdfs:label "PRLH" ; IAO:0000142 PMID:10599733, PMID:9607765 ; - oboInOwl:hasDbXref UMLS:C1538719 ; oboInOwl:hasExactSynonym "PRLH", "prh", "prolactin-releasing hormone", "prolactin-releasing peptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51052 ; - skos:exactMatch HGNC_symbol:PRLH ; + skos:exactMatch UMLS:C1538719, + HGNC:17945, + HGNC_symbol:PRLH ; biolink:category biolink:Gene . OMIM:602664 a owl:Class ; @@ -159759,26 +164490,28 @@ OMIM:602664 a owl:Class ; PMID:7797592, PMID:7859282, PMID:9491891 ; - oboInOwl:hasDbXref UMLS:C1366513 ; oboInOwl:hasExactSynonym "CASP4", "caspase 11, mouse, homolog of", "caspase 4, apoptosis-related cysteine protease", "ice and ced3 homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:837 ; - skos:exactMatch HGNC_symbol:CASP4 ; + skos:exactMatch UMLS:C1366513, + HGNC:1505, + HGNC_symbol:CASP4 ; biolink:category biolink:Gene . OMIM:602665 a owl:Class ; rdfs:label "CASP5" ; IAO:0000142 PMID:7797592, PMID:9250871 ; - oboInOwl:hasDbXref UMLS:C1332664 ; oboInOwl:hasExactSynonym "CASP5", "caspase 5, apoptosis-related cysteine protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:838 ; - skos:exactMatch HGNC_symbol:CASP5 ; + skos:exactMatch UMLS:C1332664, + HGNC:1506, + HGNC_symbol:CASP5 ; biolink:category biolink:Gene . OMIM:602666 a owl:Class ; @@ -159798,13 +164531,14 @@ OMIM:602666 a owl:Class ; PMID:9603736 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:600316 ; - oboInOwl:hasDbXref UMLS:C1417557 ; oboInOwl:hasExactSynonym "MYO15A", "myosin 15", "myosin 15a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51168 ; - skos:exactMatch HGNC_symbol:MYO15A ; + skos:exactMatch UMLS:C1417557, + HGNC:7594, + HGNC_symbol:MYO15A ; biolink:category biolink:Gene . OMIM:602667 a owl:Class ; @@ -159854,14 +164588,15 @@ OMIM:602667 a owl:Class ; PMID:9933573 ; RO:0002525 CHR:9606chr8q21.3 ; RO:0003303 OMIM:251260 ; - oboInOwl:hasDbXref UMLS:C1334862 ; oboInOwl:hasExactSynonym "NBN", "nbs1", "nibrin", "p95 protein of the mre11/rad50 complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4683 ; - skos:exactMatch HGNC_symbol:NBN ; + skos:exactMatch UMLS:C1334862, + HGNC:7652, + HGNC_symbol:NBN ; biolink:category biolink:Gene . OMIM:602669 a owl:Class ; @@ -159879,25 +164614,27 @@ OMIM:602669 a owl:Class ; PMID:9620774 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:610623 ; - oboInOwl:hasDbXref UMLS:C1418597 ; oboInOwl:hasExactSynonym "PITX3", "paired-like homeodomain transcription factor 3", "pituitary homeobox 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5309 ; - skos:exactMatch HGNC_symbol:PITX3 ; + skos:exactMatch UMLS:C1418597, + HGNC:9006, + HGNC_symbol:PITX3 ; biolink:category biolink:Gene . OMIM:602670 a owl:Class ; rdfs:label "POLE2" ; IAO:0000142 PMID:9405441 ; - oboInOwl:hasDbXref UMLS:C1418730 ; oboInOwl:hasExactSynonym "POLE2", "dpe2", "polymerase, dna, epsilon-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5427 ; - skos:exactMatch HGNC_symbol:POLE2 ; + skos:exactMatch UMLS:C1418730, + HGNC:9178, + HGNC_symbol:POLE2 ; biolink:category biolink:Gene . OMIM:602671 a owl:Class ; @@ -159927,9 +164664,6 @@ OMIM:602671 a owl:Class ; PMID:9925924 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:232240 ; - oboInOwl:hasDbXref UMLS:C0268146, - UMLS:C0342749, - UMLS:C1414895 ; oboInOwl:hasExactSynonym "SLC37A4", "g6p translocase", "glucose-6-phosphate translocase", @@ -159937,7 +164671,11 @@ OMIM:602671 a owl:Class ; "solute carrier family 37 (glucose-6-phosphate transporter), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2542 ; - skos:exactMatch HGNC_symbol:SLC37A4 ; + skos:exactMatch UMLS:C0268146, + UMLS:C0342749, + UMLS:C1414895, + HGNC:4061, + HGNC_symbol:SLC37A4 ; biolink:category biolink:Gene . OMIM:602672 a owl:Class ; @@ -159946,12 +164684,13 @@ OMIM:602672 a owl:Class ; PMID:8294494, PMID:9261061, PMID:9605854 ; - oboInOwl:hasDbXref UMLS:C1419191 ; oboInOwl:hasExactSynonym "RAB13", "ras-associated protein rab13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5872 ; - skos:exactMatch HGNC_symbol:RAB13 ; + skos:exactMatch UMLS:C1419191, + HGNC:9762, + HGNC_symbol:RAB13 ; biolink:category biolink:Gene . OMIM:602673 a owl:Class ; @@ -159960,14 +164699,15 @@ OMIM:602673 a owl:Class ; PMID:16829021, PMID:8764136, PMID:9533035 ; - oboInOwl:hasDbXref UMLS:C1416670 ; oboInOwl:hasExactSynonym "KLK10", "kallikrein 10", "kallikrein-related peptidase 10", "protease, serine-like, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5655 ; - skos:exactMatch HGNC_symbol:KLK10 ; + skos:exactMatch UMLS:C1416670, + HGNC:6358, + HGNC_symbol:KLK10 ; biolink:category biolink:Gene . OMIM:602674 a owl:Class ; @@ -159979,13 +164719,14 @@ OMIM:602675 a owl:Class ; IAO:0000142 PMID:7672445, PMID:9096329, PMID:9533033 ; - oboInOwl:hasDbXref UMLS:C1419434 ; oboInOwl:hasExactSynonym "RNPEP", "aminopeptidase B", "arginyl aminopeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6051 ; - skos:exactMatch HGNC_symbol:RNPEP ; + skos:exactMatch UMLS:C1419434, + HGNC:10078, + HGNC_symbol:RNPEP ; biolink:category biolink:Gene . OMIM:602676 a owl:Class ; @@ -160002,8 +164743,6 @@ OMIM:602676 a owl:Class ; PMID:9781033 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:615665 ; - oboInOwl:hasDbXref UMLS:C1418428, - UMLS:C3810278 ; oboInOwl:hasExactSynonym "PDE6D", "pde-delta", "phosphodiesterase 6d", @@ -160011,7 +164750,10 @@ OMIM:602676 a owl:Class ; "retinal rod photoreceptor cgmp phosphodiesterase, delta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5147 ; - skos:exactMatch HGNC_symbol:PDE6D ; + skos:exactMatch UMLS:C1418428, + UMLS:C3810278, + HGNC:8788, + HGNC_symbol:PDE6D ; biolink:category biolink:Gene . OMIM:602677 a owl:Class ; @@ -160019,14 +164761,15 @@ OMIM:602677 a owl:Class ; IAO:0000142 PMID:16901789, PMID:19285439, PMID:9533025 ; - oboInOwl:hasDbXref UMLS:C1419426 ; oboInOwl:hasExactSynonym "RNF5", "ring finger protein 5", "ring5", "rma1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6048 ; - skos:exactMatch HGNC_symbol:RNF5 ; + skos:exactMatch UMLS:C1419426, + HGNC:10068, + HGNC_symbol:RNF5 ; biolink:category biolink:Gene . OMIM:602678 a owl:Class ; @@ -160039,7 +164782,6 @@ OMIM:602678 a owl:Class ; PMID:9543386 ; RO:0002525 CHR:9606chr14q32.32-q32.33 ; RO:0003303 OMIM:618283 ; - oboInOwl:hasDbXref UMLS:C1417034 ; oboInOwl:hasExactSynonym "MARK3", "cdc25c-associated protein kinase 1", "map/microtubule affinity-regulating kinase 3", @@ -160047,7 +164789,9 @@ OMIM:602678 a owl:Class ; "par1, c. elegans, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4140 ; - skos:exactMatch HGNC_symbol:MARK3 ; + skos:exactMatch UMLS:C1417034, + HGNC:6897, + HGNC_symbol:MARK3 ; biolink:category biolink:Gene . OMIM:602679 a owl:Class ; @@ -160057,28 +164801,30 @@ OMIM:602679 a owl:Class ; PMID:9083101 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:618770 ; - oboInOwl:hasDbXref UMLS:C1418398, - UMLS:C5394037 ; oboInOwl:hasExactSynonym "PCYT2", "cytidylyltransferase, ctp-phosphoethanolamine", "ethanolamine-phosphate cytidylyltransferase", "phosphate cytidylyltransferase 2, ethanolamine" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5833 ; - skos:exactMatch HGNC_symbol:PCYT2 ; + skos:exactMatch UMLS:C1418398, + UMLS:C5394037, + HGNC:8756, + HGNC_symbol:PCYT2 ; biolink:category biolink:Gene . OMIM:602680 a owl:Class ; rdfs:label "ARHGAP5" ; IAO:0000142 PMID:17129786, PMID:8537347 ; - oboInOwl:hasDbXref UMLS:C1412522 ; oboInOwl:hasExactSynonym "ARHGAP5", "gtpase-activating protein, rho, 5", "rho gtpase-activating protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:394 ; - skos:exactMatch HGNC_symbol:ARHGAP5 ; + skos:exactMatch UMLS:C1412522, + HGNC:675, + HGNC_symbol:ARHGAP5 ; biolink:category biolink:Gene . OMIM:602681 a owl:Class ; @@ -160127,7 +164873,6 @@ OMIM:602681 a owl:Class ; PMID:9345057, PMID:9353126, PMID:9479491 ; - oboInOwl:hasDbXref UMLS:C1333573 ; oboInOwl:hasExactSynonym "FOXO3A", "fkhr-like 1", "forkhead 1n rhabdomyosarcoma-like 1", @@ -160135,7 +164880,9 @@ OMIM:602681 a owl:Class ; "foxo3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2309 ; - skos:exactMatch HGNC_symbol:FOXO3 ; + skos:exactMatch UMLS:C1333573, + HGNC:3821, + HGNC_symbol:FOXO3 ; biolink:category biolink:Gene . OMIM:602682 a owl:Class ; @@ -160147,26 +164894,28 @@ OMIM:602682 a owl:Class ; PMID:9393972, PMID:9533023, PMID:9647739 ; - oboInOwl:hasDbXref UMLS:C1332374 ; oboInOwl:hasExactSynonym "ADGRB1", "adhesion g protein-coupled receptor b1", "angiogenesis inhibitory factor, glioma-derived", "brain-specific angiogenesis inhibitor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:575 ; - skos:exactMatch HGNC_symbol:ADGRB1 ; + skos:exactMatch UMLS:C1332374, + HGNC:943, + HGNC_symbol:ADGRB1 ; biolink:category biolink:Gene . OMIM:602683 a owl:Class ; rdfs:label "ADGRB2" ; IAO:0000142 PMID:9533023 ; - oboInOwl:hasDbXref UMLS:C1332375 ; oboInOwl:hasExactSynonym "ADGRB2", "adhesion g protein-coupled receptor b2", "brain-specific angiogenesis inhibitor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:576 ; - skos:exactMatch HGNC_symbol:ADGRB2 ; + skos:exactMatch UMLS:C1332375, + HGNC:944, + HGNC_symbol:ADGRB2 ; biolink:category biolink:Gene . OMIM:602684 a owl:Class ; @@ -160174,13 +164923,14 @@ OMIM:602684 a owl:Class ; IAO:0000142 PMID:21262840, PMID:30659260, PMID:9533023 ; - oboInOwl:hasDbXref UMLS:C1332376 ; oboInOwl:hasExactSynonym "ADGRB3", "adhesion g protein-coupled receptor b3", "brain-specific angiogenesis inhibitor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:577 ; - skos:exactMatch HGNC_symbol:ADGRB3 ; + skos:exactMatch UMLS:C1332376, + HGNC:945, + HGNC_symbol:ADGRB3 ; biolink:category biolink:Gene . OMIM:602686 a owl:Class ; @@ -160193,7 +164943,6 @@ OMIM:602686 a owl:Class ; PMID:9546394 ; RO:0002525 CHR:9606chr7p22.3 ; RO:0003303 OMIM:176807 ; - oboInOwl:hasDbXref UMLS:C1416958 ; oboInOwl:hasExactSynonym "MAD1L1", "mad1, yeast, homolog of", "mitotic arrest deficient 1 like 1", @@ -160202,7 +164951,9 @@ OMIM:602686 a owl:Class ; "tax-binding protein 181" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8379 ; - skos:exactMatch HGNC_symbol:MAD1L1 ; + skos:exactMatch UMLS:C1416958, + HGNC:6762, + HGNC_symbol:MAD1L1 ; biolink:category biolink:Gene . OMIM:602687 a owl:Class ; @@ -160213,7 +164964,6 @@ OMIM:602688 a owl:Class ; rdfs:label "HNRNPAB" ; IAO:0000142 PMID:1717314, PMID:8999813 ; - oboInOwl:hasDbXref UMLS:C1333921 ; oboInOwl:hasExactSynonym "HNRNPAB", "apobec1-binding protein 1", "apolipoprotein B mrna-editing enzyme, catalytic polypeptide 1-binding protein 1", @@ -160221,7 +164971,9 @@ OMIM:602688 a owl:Class ; "hnrpab" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3182 ; - skos:exactMatch HGNC_symbol:HNRNPAB ; + skos:exactMatch UMLS:C1333921, + HGNC:5034, + HGNC_symbol:HNRNPAB ; biolink:category biolink:Gene . OMIM:602689 a owl:Class ; @@ -160237,7 +164989,6 @@ OMIM:602689 a owl:Class ; PMID:8647875, PMID:8999969, PMID:9033270 ; - oboInOwl:hasDbXref UMLS:C1420280 ; oboInOwl:hasExactSynonym "FSCN1", "actin-bundling protein, 55-kd", "fascin actin-bundling protein 1", @@ -160246,7 +164997,9 @@ OMIM:602689 a owl:Class ; "singed, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6624 ; - skos:exactMatch HGNC_symbol:FSCN1 ; + skos:exactMatch UMLS:C1420280, + HGNC:11148, + HGNC_symbol:FSCN1 ; biolink:category biolink:Gene . OMIM:602690 a owl:Class ; @@ -160287,13 +165040,14 @@ OMIM:602690 a owl:Class ; PMID:9781639 ; RO:0002525 CHR:9606chr11q23.1 ; RO:0003303 OMIM:171300 ; - oboInOwl:hasDbXref UMLS:C1419909 ; oboInOwl:hasExactSynonym "SDHD", "succinate dehydrogenase 4, integral membrane protein", "succinate dehydrogenase complex, subunit d, integral membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6392 ; - skos:exactMatch HGNC_symbol:SDHD ; + skos:exactMatch UMLS:C1419909, + HGNC:10683, + HGNC_symbol:SDHD ; biolink:category biolink:Gene . OMIM:602691 a owl:Class ; @@ -160307,13 +165061,14 @@ OMIM:602691 a owl:Class ; PMID:9223281, PMID:9223431, PMID:9782096 ; - oboInOwl:hasDbXref UMLS:C1334866 ; oboInOwl:hasExactSynonym "NCOA1", "nuclear receptor coactivator 1", "steroid receptor coactivator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8648 ; - skos:exactMatch HGNC_symbol:NCOA1 ; + skos:exactMatch UMLS:C1334866, + HGNC:7668, + HGNC_symbol:NCOA1 ; biolink:category biolink:Gene . OMIM:602692 a owl:Class ; @@ -160324,14 +165079,15 @@ OMIM:602692 a owl:Class ; PMID:17825796, PMID:7607567, PMID:8973356 ; - oboInOwl:hasDbXref UMLS:C1424680 ; oboInOwl:hasExactSynonym "GLIPR1", "glioma pathogenesis-related protein 1", "glipr", "related to testis-specific, vespid, and pathogenesis proteins 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11010 ; - skos:exactMatch HGNC_symbol:GLIPR1 ; + skos:exactMatch UMLS:C1424680, + HGNC:17001, + HGNC_symbol:GLIPR1 ; biolink:category biolink:Gene . OMIM:602693 a owl:Class ; @@ -160349,7 +165105,6 @@ OMIM:602693 a owl:Class ; PMID:8265339, PMID:9223437, PMID:9712829 ; - oboInOwl:hasDbXref UMLS:C1334490 ; oboInOwl:hasExactSynonym "MCM3", "minichromosome maintenance complex component 3", "minichromosome maintenance, s. cerevisiae, homolog of, 3", @@ -160357,7 +165112,9 @@ OMIM:602693 a owl:Class ; "replication licensing factor, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4172 ; - skos:exactMatch HGNC_symbol:MCM3 ; + skos:exactMatch UMLS:C1334490, + HGNC:6945, + HGNC_symbol:MCM3 ; biolink:category biolink:Gene . OMIM:602694 a owl:Class ; @@ -160378,8 +165135,6 @@ OMIM:602694 a owl:Class ; PMID:9763677 ; RO:0002525 CHR:9606chr5q11.2 ; RO:0003303 OMIM:252010 ; - oboInOwl:hasDbXref UMLS:C1417647, - UMLS:C1838979 ; oboInOwl:hasExactSynonym "NDUFS4", "aqdq", "complex i, mitochondrial respiratory chain, 18-kd subunit", @@ -160387,7 +165142,10 @@ OMIM:602694 a owl:Class ; "nadh-ubiquinone oxidoreductase fe-s protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4724 ; - skos:exactMatch HGNC_symbol:NDUFS4 ; + skos:exactMatch UMLS:C1417647, + UMLS:C1838979, + HGNC:7711, + HGNC_symbol:NDUFS4 ; biolink:category biolink:Gene . OMIM:602695 a owl:Class ; @@ -160401,14 +165159,15 @@ OMIM:602695 a owl:Class ; PMID:23493554, PMID:9405449, PMID:9560343 ; - oboInOwl:hasDbXref UMLS:C1420814 ; oboInOwl:hasExactSynonym "TNFSF12", "tnf-related weak inducer of apoptosis", "tumor necrosis factor ligand superfamily, member 12", "tweak/april spliced read-through transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8742 ; - skos:exactMatch HGNC_symbol:TNFSF12 ; + skos:exactMatch UMLS:C1420814, + HGNC:11927, + HGNC_symbol:TNFSF12 ; biolink:category biolink:Gene . OMIM:602696 a owl:Class ; @@ -160421,14 +165180,15 @@ OMIM:602696 a owl:Class ; PMID:9223437 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:617564 ; - oboInOwl:hasDbXref UMLS:C1334492 ; oboInOwl:hasExactSynonym "MCM5", "cell division cycle 46", "minichromosome maintenance complex component 5", "minichromosome maintenance, s. cerevisiae, homolog of, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4174 ; - skos:exactMatch HGNC_symbol:MCM5 ; + skos:exactMatch UMLS:C1334492, + HGNC:6948, + HGNC_symbol:MCM5 ; biolink:category biolink:Gene . OMIM:602697 a owl:Class ; @@ -160436,13 +165196,14 @@ OMIM:602697 a owl:Class ; IAO:0000142 PMID:11004484, PMID:11278528, PMID:9405388 ; - oboInOwl:hasDbXref UMLS:C1418218 ; oboInOwl:hasExactSynonym "P2RY11", "p2ry11/ppan spliced read-through transcript", "purinergic receptor p2y, g protein-coupled, 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5032 ; - skos:exactMatch HGNC_symbol:P2RY11 ; + skos:exactMatch UMLS:C1418218, + HGNC:8540, + HGNC_symbol:P2RY11 ; biolink:category biolink:Gene . OMIM:602698 a owl:Class ; @@ -160463,14 +165224,15 @@ OMIM:602698 a owl:Class ; PMID:7739550, PMID:7749981, PMID:9660947 ; - oboInOwl:hasDbXref UMLS:C1417696 ; oboInOwl:hasExactSynonym "NFATC3", "nfat4", "nfatx", "nuclear factor of activated t cells, cytoplasmic, calcineurin-dependent 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4775 ; - skos:exactMatch HGNC_symbol:NFATC3 ; + skos:exactMatch UMLS:C1417696, + HGNC:7777, + HGNC_symbol:NFATC3 ; biolink:category biolink:Gene . OMIM:602699 a owl:Class ; @@ -160485,13 +165247,14 @@ OMIM:602699 a owl:Class ; PMID:20101218, PMID:7749981, PMID:9660947 ; - oboInOwl:hasDbXref UMLS:C1417697 ; oboInOwl:hasExactSynonym "NFATC4", "nfat3", "nuclear factor of activated t cells, cytoplasmic, calcineurin-dependent 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4776 ; - skos:exactMatch HGNC_symbol:NFATC4 ; + skos:exactMatch UMLS:C1417697, + HGNC:7778, + HGNC_symbol:NFATC4 ; biolink:category biolink:Gene . OMIM:602700 a owl:Class ; @@ -160541,25 +165304,27 @@ OMIM:602700 a owl:Class ; PMID:9590171 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:613684 ; - oboInOwl:hasDbXref UMLS:C1333336 ; oboInOwl:hasExactSynonym "EP300", "e1a-binding protein, 300-kd", "p300" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2033 ; - skos:exactMatch HGNC_symbol:EP300 ; + skos:exactMatch UMLS:C1333336, + HGNC:3373, + HGNC_symbol:EP300 ; biolink:category biolink:Gene . OMIM:602701 a owl:Class ; rdfs:label "SLMAP" ; IAO:0000142 PMID:9405447 ; - oboInOwl:hasDbXref UMLS:C1424461 ; oboInOwl:hasExactSynonym "SLMAP", "sarcolemmal-associated protein", "slap" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7871 ; - skos:exactMatch HGNC_symbol:SLMAP ; + skos:exactMatch UMLS:C1424461, + HGNC:16643, + HGNC_symbol:SLMAP ; biolink:category biolink:Gene . OMIM:602702 a owl:Class ; @@ -160568,7 +165333,6 @@ OMIM:602702 a owl:Class ; PMID:16769818, PMID:17003132, PMID:9590177 ; - oboInOwl:hasDbXref UMLS:C1424620 ; oboInOwl:hasExactSynonym "PLIN3", "mannose 6-phosphate receptor-binding protein 1", "mpr tail-interacting protein, 47-kd", @@ -160576,7 +165340,9 @@ OMIM:602702 a owl:Class ; "perilipin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10226 ; - skos:exactMatch HGNC_symbol:PLIN3 ; + skos:exactMatch UMLS:C1424620, + HGNC:16893, + HGNC_symbol:PLIN3 ; biolink:category biolink:Gene . OMIM:602703 a owl:Class ; @@ -160590,12 +165356,13 @@ OMIM:602703 a owl:Class ; PMID:9568719 ; RO:0002525 CHR:9606chr16q21 ; RO:0003303 OMIM:616212 ; - oboInOwl:hasDbXref UMLS:C1416542 ; oboInOwl:hasExactSynonym "KATNB1", "katanin, p80 subunit, b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10300 ; - skos:exactMatch HGNC_symbol:KATNB1 ; + skos:exactMatch UMLS:C1416542, + HGNC:6217, + HGNC_symbol:KATNB1 ; biolink:category biolink:Gene . OMIM:602704 a owl:Class ; @@ -160611,8 +165378,6 @@ OMIM:602704 a owl:Class ; PMID:9226370 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:618849 ; - oboInOwl:hasDbXref UMLS:C1417089, - UMLS:C5394274 ; oboInOwl:hasExactSynonym "MDM4", "hdmx", "mdm4 regulator of p53", @@ -160621,7 +165386,10 @@ OMIM:602704 a owl:Class ; "p53-binding protein mdm4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4194 ; - skos:exactMatch HGNC_symbol:MDM4 ; + skos:exactMatch UMLS:C1417089, + UMLS:C5394274, + HGNC:6974, + HGNC_symbol:MDM4 ; biolink:category biolink:Gene . OMIM:602705 a owl:Class ; @@ -160630,12 +165398,13 @@ OMIM:602705 a owl:Class ; PMID:8678112, PMID:9539796, PMID:9593663 ; - oboInOwl:hasDbXref UMLS:C1420545 ; oboInOwl:hasExactSynonym "SYN3", "synapsin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8224 ; - skos:exactMatch HGNC_symbol:SYN3 ; + skos:exactMatch UMLS:C1420545, + HGNC:11496, + HGNC_symbol:SYN3 ; biolink:category biolink:Gene . OMIM:602706 a owl:Class ; @@ -160644,13 +165413,14 @@ OMIM:602706 a owl:Class ; PMID:1429620, PMID:8808288, PMID:9473509 ; - oboInOwl:hasDbXref UMLS:C1419020 ; oboInOwl:hasExactSynonym "PSMC1", "protease 26s, subunit 4", "proteasome 26s subunit, atpase, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5700 ; - skos:exactMatch HGNC_symbol:PSMC1 ; + skos:exactMatch UMLS:C1419020, + HGNC:9547, + HGNC_symbol:PSMC1 ; biolink:category biolink:Gene . OMIM:602707 a owl:Class ; @@ -160659,14 +165429,15 @@ OMIM:602707 a owl:Class ; PMID:8060531, PMID:8419915, PMID:9473509 ; - oboInOwl:hasDbXref UMLS:C1419024 ; oboInOwl:hasExactSynonym "PSMC4", "protease 26s, subunit 6", "proteasome 26s subunit, atpase, 4", "tat-binding protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5704 ; - skos:exactMatch HGNC_symbol:PSMC4 ; + skos:exactMatch UMLS:C1419024, + HGNC:9551, + HGNC_symbol:PSMC4 ; biolink:category biolink:Gene . OMIM:602708 a owl:Class ; @@ -160674,12 +165445,13 @@ OMIM:602708 a owl:Class ; IAO:0000142 PMID:8621709, PMID:8674546, PMID:9473509 ; - oboInOwl:hasDbXref UMLS:C1419026 ; oboInOwl:hasExactSynonym "PSMC6", "proteasome 26s subunit, atpase, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5706 ; - skos:exactMatch HGNC_symbol:PSMC6 ; + skos:exactMatch UMLS:C1419026, + HGNC:9553, + HGNC_symbol:PSMC6 ; biolink:category biolink:Gene . OMIM:602709 a owl:Class ; @@ -160694,13 +165466,14 @@ OMIM:602709 a owl:Class ; PMID:9407065, PMID:9585438, PMID:9799084 ; - oboInOwl:hasDbXref UMLS:C1412459 ; oboInOwl:hasExactSynonym "APBB1", "amyloid beta a4 precursor protein-binding, family b, member 1", "fe65" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:322 ; - skos:exactMatch HGNC_symbol:APBB1 ; + skos:exactMatch UMLS:C1412459, + HGNC:581, + HGNC_symbol:APBB1 ; biolink:category biolink:Gene . OMIM:602710 a owl:Class ; @@ -160709,13 +165482,14 @@ OMIM:602710 a owl:Class ; PMID:8855266, PMID:8955346, PMID:9585438 ; - oboInOwl:hasDbXref UMLS:C1412460 ; oboInOwl:hasExactSynonym "APBB2", "amyloid beta a4 precursor protein-binding, family b, member 2", "fe65-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:323 ; - skos:exactMatch HGNC_symbol:APBB2 ; + skos:exactMatch UMLS:C1412460, + HGNC:582, + HGNC_symbol:APBB2 ; biolink:category biolink:Gene . OMIM:602711 a owl:Class ; @@ -160724,13 +165498,14 @@ OMIM:602711 a owl:Class ; PMID:10329396, PMID:12402277, PMID:9461550 ; - oboInOwl:hasDbXref UMLS:C1427086 ; oboInOwl:hasExactSynonym "APBB3", "amyloid beta a4 precursor protein-binding, family b, member 3", "fe65-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10307 ; - skos:exactMatch HGNC_symbol:APBB3 ; + skos:exactMatch UMLS:C1427086, + HGNC:20708, + HGNC_symbol:APBB3 ; biolink:category biolink:Gene . OMIM:602713 a owl:Class ; @@ -160748,14 +165523,15 @@ OMIM:602713 a owl:Class ; PMID:8809033 ; RO:0002525 CHR:9606chr8p11.22 ; RO:0003303 OMIM:612775 ; - oboInOwl:hasDbXref UMLS:C1412207 ; oboInOwl:hasExactSynonym "ADAM9", "a disintegrin and metalloproteinase domain 9", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein 9", "myeloma cell metalloproteinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8754 ; - skos:exactMatch HGNC_symbol:ADAM9 ; + skos:exactMatch UMLS:C1412207, + HGNC:216, + HGNC_symbol:ADAM9 ; biolink:category biolink:Gene . OMIM:602714 a owl:Class ; @@ -160765,13 +165541,14 @@ OMIM:602714 a owl:Class ; PMID:12915458, PMID:7566181, PMID:9417060 ; - oboInOwl:hasDbXref UMLS:C1412182 ; oboInOwl:hasExactSynonym "ADAM12", "a disintegrin and metalloproteinase domain 12", "meltrin-alpha, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8038 ; - skos:exactMatch HGNC_symbol:ADAM12 ; + skos:exactMatch UMLS:C1412182, + HGNC:190, + HGNC_symbol:ADAM12 ; biolink:category biolink:Gene . OMIM:602715 a owl:Class ; @@ -160784,7 +165561,6 @@ OMIM:602715 a owl:Class ; PMID:8811043 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:619362 ; - oboInOwl:hasDbXref UMLS:C1416886 ; oboInOwl:hasExactSynonym "LMOD1", "d1", "hashimoto thyroiditis autoantigen, 64-kd", @@ -160794,7 +165570,9 @@ OMIM:602715 a owl:Class ; "thyroid-associated ophthalmopathy autoantigen, 64-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25802 ; - skos:exactMatch HGNC_symbol:LMOD1 ; + skos:exactMatch UMLS:C1416886, + HGNC:6647, + HGNC_symbol:LMOD1 ; biolink:category biolink:Gene . OMIM:602716 a owl:Class ; @@ -160823,14 +165601,15 @@ OMIM:602716 a owl:Class ; PMID:9915943 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:256300 ; - oboInOwl:hasDbXref UMLS:C1417784 ; oboInOwl:hasExactSynonym "NPHS1", "nephrin", "nphn", "renal glomerulus-specific cell adhesion receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4868 ; - skos:exactMatch HGNC_symbol:NPHS1 ; + skos:exactMatch UMLS:C1417784, + HGNC:7908, + HGNC_symbol:NPHS1 ; biolink:category biolink:Gene . OMIM:602717 a owl:Class ; @@ -160845,27 +165624,29 @@ OMIM:602717 a owl:Class ; PMID:9489750 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:617162 ; - oboInOwl:hasDbXref UMLS:C1415302, - UMLS:C4310687 ; oboInOwl:hasExactSynonym "GRIN2D", "glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2d", "n-methyl-d-aspartate receptor channel, subunit epsilon-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2906 ; - skos:exactMatch HGNC_symbol:GRIN2D ; + skos:exactMatch UMLS:C1415302, + UMLS:C4310687, + HGNC:4588, + HGNC_symbol:GRIN2D ; biolink:category biolink:Gene . OMIM:602718 a owl:Class ; rdfs:label "TRA2A" ; IAO:0000142 PMID:8799144, PMID:9546399 ; - oboInOwl:hasDbXref UMLS:C1864500 ; oboInOwl:hasExactSynonym "TRA2A", "transformer 2 alpha homolog", "transformer 2, drosophila, homolog of, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29896 ; - skos:exactMatch HGNC_symbol:TRA2A ; + skos:exactMatch UMLS:C1864500, + HGNC:16645, + HGNC_symbol:TRA2A ; biolink:category biolink:Gene . OMIM:602719 a owl:Class ; @@ -160882,7 +165663,6 @@ OMIM:602719 a owl:Class ; PMID:9212162, PMID:9546399, PMID:9790768 ; - oboInOwl:hasDbXref UMLS:C1419990 ; oboInOwl:hasExactSynonym "TRA2B", "htra2-beta-1", "splicing factor, arginine/serine-rich, 10", @@ -160891,7 +165671,9 @@ OMIM:602719 a owl:Class ; "transformer 2, drosophila, homolog of, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6434 ; - skos:exactMatch HGNC_symbol:TRA2B ; + skos:exactMatch UMLS:C1419990, + HGNC:10781, + HGNC_symbol:TRA2B ; biolink:category biolink:Gene . OMIM:602720 a owl:Class ; @@ -160902,12 +165684,13 @@ OMIM:602720 a owl:Class ; PMID:17379834, PMID:8661009, PMID:9714608 ; - oboInOwl:hasDbXref UMLS:C1418756 ; oboInOwl:hasExactSynonym "PON3", "paraoxonase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5446 ; - skos:exactMatch HGNC_symbol:PON3 ; + skos:exactMatch UMLS:C1418756, + HGNC:9206, + HGNC_symbol:PON3 ; biolink:category biolink:Gene . OMIM:602721 a owl:Class ; @@ -160919,14 +165702,15 @@ OMIM:602721 a owl:Class ; PMID:8602360, PMID:9660953, PMID:9660954 ; - oboInOwl:hasDbXref UMLS:C1414082 ; oboInOwl:hasExactSynonym "DMC1", "DNA meiotic recombinase 1", "disrupted meiotic cdna 1, yeast, homolog of", "lim15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11144 ; - skos:exactMatch HGNC_symbol:DMC1 ; + skos:exactMatch UMLS:C1414082, + HGNC:2927, + HGNC_symbol:DMC1 ; biolink:category biolink:Gene . OMIM:602724 a owl:Class ; @@ -160942,8 +165726,6 @@ OMIM:602724 a owl:Class ; PMID:9600980, PMID:9611266, PMID:9760144 ; - oboInOwl:hasDbXref UMLS:C1539748, - UMLS:C1864496 ; oboInOwl:hasExactSynonym "SEPT5", "cdcrel1", "cell division cycle-related", @@ -160952,20 +165734,24 @@ OMIM:602724 a owl:Class ; "septin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5413 ; - skos:exactMatch HGNC_symbol:SEPTIN5 ; + skos:exactMatch UMLS:C1539748, + UMLS:C1864496, + HGNC:9164, + HGNC_symbol:SEPTIN5 ; biolink:category biolink:Gene . OMIM:602725 a owl:Class ; rdfs:label "IFRD2" ; IAO:0000142 PMID:11085536, PMID:9050919 ; - oboInOwl:hasDbXref UMLS:C1415928 ; oboInOwl:hasExactSynonym "IFRD2", "interferon-related developmental regulator 2", "interferon-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7866 ; - skos:exactMatch HGNC_symbol:IFRD2 ; + skos:exactMatch UMLS:C1415928, + HGNC:5457, + HGNC_symbol:IFRD2 ; biolink:category biolink:Gene . OMIM:602726 a owl:Class ; @@ -160977,13 +165763,14 @@ OMIM:602726 a owl:Class ; PMID:9224655 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:619173 ; - oboInOwl:hasDbXref UMLS:C1413455 ; oboInOwl:hasExactSynonym "CLCN6", "chloride channel 6", "clc6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1185 ; - skos:exactMatch HGNC_symbol:CLCN6 ; + skos:exactMatch UMLS:C1413455, + HGNC:2024, + HGNC_symbol:CLCN6 ; biolink:category biolink:Gene . OMIM:602727 a owl:Class ; @@ -161002,40 +165789,43 @@ OMIM:602727 a owl:Class ; PMID:8543009 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:611490 ; - oboInOwl:hasDbXref UMLS:C1413456 ; oboInOwl:hasExactSynonym "CLCN7", "chloride channel 7", "clc7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1186 ; - skos:exactMatch HGNC_symbol:CLCN7 ; + skos:exactMatch UMLS:C1413456, + HGNC:2025, + HGNC_symbol:CLCN7 ; biolink:category biolink:Gene . OMIM:602728 a owl:Class ; rdfs:label "SCARA3" ; IAO:0000142 PMID:18806823, PMID:9580669 ; - oboInOwl:hasDbXref UMLS:C1425942 ; oboInOwl:hasExactSynonym "SCARA3", "cellular stress response", "macrophage scavenger receptor-like 1", "scavenger receptor class a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51435 ; - skos:exactMatch HGNC_symbol:SCARA3 ; + skos:exactMatch UMLS:C1425942, + HGNC:19000, + HGNC_symbol:SCARA3 ; biolink:category biolink:Gene . OMIM:602729 a owl:Class ; rdfs:label "GABRP" ; IAO:0000142 PMID:10414349, PMID:9182563 ; - oboInOwl:hasDbXref UMLS:C1414922 ; oboInOwl:hasExactSynonym "GABRP", "gaba-a receptor, pi polypeptide", "gamma-aminobutyric acid receptor, pi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2568 ; - skos:exactMatch HGNC_symbol:GABRP ; + skos:exactMatch UMLS:C1414922, + HGNC:4089, + HGNC_symbol:GABRP ; biolink:category biolink:Gene . OMIM:602730 a owl:Class ; @@ -161050,13 +165840,14 @@ OMIM:602730 a owl:Class ; PMID:9916847 ; RO:0002525 CHR:9606chr3p22.2 ; RO:0003303 OMIM:613751 ; - oboInOwl:hasDbXref UMLS:C1332013 ; oboInOwl:hasExactSynonym "ACVR2B", "activin a receptor, iia 2b", "actriib" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93 ; - skos:exactMatch HGNC_symbol:ACVR2B ; + skos:exactMatch UMLS:C1332013, + HGNC:174, + HGNC_symbol:ACVR2B ; biolink:category biolink:Gene . OMIM:602731 a owl:Class ; @@ -161073,8 +165864,6 @@ OMIM:602731 a owl:Class ; PMID:9207119 ; RO:0002525 CHR:9606chr5p13.1 ; RO:0003303 OMIM:273900 ; - oboInOwl:hasDbXref UMLS:C1414885, - UMLS:C2678311 ; oboInOwl:hasExactSynonym "FYB1", "adhesion and degranulation adaptor protein", "fyn-binding protein", @@ -161083,7 +165872,10 @@ OMIM:602731 a owl:Class ; "slap130" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2533 ; - skos:exactMatch HGNC_symbol:FYB1 ; + skos:exactMatch UMLS:C1414885, + UMLS:C2678311, + HGNC:4036, + HGNC_symbol:FYB1 ; biolink:category biolink:Gene . OMIM:602732 a owl:Class ; @@ -161094,7 +165886,6 @@ OMIM:602732 a owl:Class ; PMID:1905930, PMID:8253717, PMID:8288572 ; - oboInOwl:hasDbXref UMLS:C1412520 ; oboInOwl:hasExactSynonym "ARHGAP1", "cdc42gap", "gtpase-activating protein, rho, 1", @@ -161103,7 +165894,9 @@ OMIM:602732 a owl:Class ; "rhogap1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:392 ; - skos:exactMatch HGNC_symbol:ARHGAP1 ; + skos:exactMatch UMLS:C1412520, + HGNC:673, + HGNC_symbol:ARHGAP1 ; biolink:category biolink:Gene . OMIM:602733 a owl:Class ; @@ -161114,14 +165907,15 @@ OMIM:602733 a owl:Class ; PMID:8269919, PMID:8645224, PMID:8786138 ; - oboInOwl:hasDbXref UMLS:C1412343 ; oboInOwl:hasExactSynonym "ALDH9A1", "aldehyde dehydrogenase 9", "aldehyde dehydrogenase, family 9, subfamily a, member 1", "e3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:223 ; - skos:exactMatch HGNC_symbol:ALDH9A1 ; + skos:exactMatch UMLS:C1412343, + HGNC:412, + HGNC_symbol:ALDH9A1 ; biolink:category biolink:Gene . OMIM:602734 a owl:Class ; @@ -161134,8 +165928,6 @@ OMIM:602734 a owl:Class ; PMID:8139549 ; RO:0002525 CHR:9606chr3q23 ; RO:0003303 OMIM:618787 ; - oboInOwl:hasDbXref UMLS:C1418657, - UMLS:C5394080 ; oboInOwl:hasExactSynonym "PLS1", "fimbrin", "i-plastin", @@ -161143,7 +165935,10 @@ OMIM:602734 a owl:Class ; "plastin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5357 ; - skos:exactMatch HGNC_symbol:PLS1 ; + skos:exactMatch UMLS:C1418657, + UMLS:C5394080, + HGNC:9090, + HGNC_symbol:PLS1 ; biolink:category biolink:Gene . OMIM:602735 a owl:Class ; @@ -161152,12 +165947,13 @@ OMIM:602735 a owl:Class ; PMID:8416973, PMID:8586628, PMID:9192846 ; - oboInOwl:hasDbXref UMLS:C1419324 ; oboInOwl:hasExactSynonym "RCN1", "reticulocalbin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5954 ; - skos:exactMatch HGNC_symbol:RCN1 ; + skos:exactMatch UMLS:C1419324, + HGNC:9934, + HGNC_symbol:RCN1 ; biolink:category biolink:Gene . OMIM:602736 a owl:Class ; @@ -161165,7 +165961,6 @@ OMIM:602736 a owl:Class ; IAO:0000142 PMID:7698763 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:619681 ; - oboInOwl:hasDbXref UMLS:C1412664 ; oboInOwl:hasExactSynonym "ATP5MC3", "atp synthase membrane subunit c, locus 3", "atp synthase, h+ transporting, mitochondrial fo complex, subunit c, isoform 3", @@ -161173,7 +165968,9 @@ OMIM:602736 a owl:Class ; "mitochondrial atp synthase, subunit c, isoform 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:518 ; - skos:exactMatch HGNC_symbol:ATP5MC3 ; + skos:exactMatch UMLS:C1412664, + HGNC:843, + HGNC_symbol:ATP5MC3 ; biolink:category biolink:Gene . OMIM:602737 a owl:Class ; @@ -161192,7 +165989,6 @@ OMIM:602737 a owl:Class ; PMID:9235955, PMID:9257816, PMID:9300671 ; - oboInOwl:hasDbXref UMLS:C1332684 ; oboInOwl:hasExactSynonym "CCL21", "chemokine, cc motif, ligand 21", "exodus 2", @@ -161200,7 +165996,9 @@ OMIM:602737 a owl:Class ; "small inducible cytokine subfamily a, member 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6366 ; - skos:exactMatch HGNC_symbol:CCL21 ; + skos:exactMatch UMLS:C1332684, + HGNC:10620, + HGNC_symbol:CCL21 ; biolink:category biolink:Gene . OMIM:602738 a owl:Class ; @@ -161218,13 +166016,14 @@ OMIM:602738 a owl:Class ; PMID:7627554, PMID:8812441, PMID:9135132 ; - oboInOwl:hasDbXref UMLS:C1416705 ; oboInOwl:hasExactSynonym "KPNB1", "importin beta-1", "karyopherin beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3837 ; - skos:exactMatch HGNC_symbol:KPNB1 ; + skos:exactMatch UMLS:C1416705, + HGNC:6400, + HGNC_symbol:KPNB1 ; biolink:category biolink:Gene . OMIM:602739 a owl:Class ; @@ -161246,14 +166045,15 @@ OMIM:602739 a owl:Class ; PMID:26816379, PMID:8557660, PMID:9224708 ; - oboInOwl:hasDbXref UMLS:C1418897 ; oboInOwl:hasExactSynonym "PRKAA1", "amp-activated protein kinase, catalytic, alpha-1", "ampk-alpha-1", "protein kinase, amp-activated, catalytic, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5562 ; - skos:exactMatch HGNC_symbol:PRKAA1 ; + skos:exactMatch UMLS:C1418897, + HGNC:9376, + HGNC_symbol:PRKAA1 ; biolink:category biolink:Gene . OMIM:602740 a owl:Class ; @@ -161265,28 +166065,30 @@ OMIM:602740 a owl:Class ; PMID:8626596, PMID:9224708, PMID:9575201 ; - oboInOwl:hasDbXref UMLS:C1418899 ; oboInOwl:hasExactSynonym "PRKAB1", "amp-activated protein kinase, noncatalytic, beta-1", "ampk-beta-1", "protein kinase, amp-activated, noncatalytic, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5564 ; - skos:exactMatch HGNC_symbol:PRKAB1 ; + skos:exactMatch UMLS:C1418899, + HGNC:9378, + HGNC_symbol:PRKAB1 ; biolink:category biolink:Gene . OMIM:602741 a owl:Class ; rdfs:label "PRKAB2" ; IAO:0000142 PMID:18855699, PMID:9575201 ; - oboInOwl:hasDbXref UMLS:C1418900 ; oboInOwl:hasExactSynonym "PRKAB2", "amp-activated protein kinase, noncatalytic, beta-2", "ampk-beta-2", "protein kinase, amp-activated, noncatalytic, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5565 ; - skos:exactMatch HGNC_symbol:PRKAB2 ; + skos:exactMatch UMLS:C1418900, + HGNC:9379, + HGNC_symbol:PRKAB2 ; biolink:category biolink:Gene . OMIM:602742 a owl:Class ; @@ -161300,14 +166102,15 @@ OMIM:602742 a owl:Class ; PMID:8621499, PMID:8626596, PMID:9224708 ; - oboInOwl:hasDbXref UMLS:C1418904 ; oboInOwl:hasExactSynonym "PRKAG1", "amp-activated protein kinase, noncatalytic, gamma-1", "ampk-gamma-1", "protein kinase, amp-activated, noncatalytic, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5571 ; - skos:exactMatch HGNC_symbol:PRKAG1 ; + skos:exactMatch UMLS:C1418904, + HGNC:9385, + HGNC_symbol:PRKAG1 ; biolink:category biolink:Gene . OMIM:602743 a owl:Class ; @@ -161338,14 +166141,15 @@ OMIM:602743 a owl:Class ; PMID:9224708 ; RO:0002525 CHR:9606chr7q36.1 ; RO:0003303 OMIM:194200 ; - oboInOwl:hasDbXref UMLS:C1418905 ; oboInOwl:hasExactSynonym "PRKAG2", "amp-activated protein kinase, noncatalytic, gamma-2", "ampk-gamma-2", "protein kinase, amp-activated, noncatalytic, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51422 ; - skos:exactMatch HGNC_symbol:PRKAG2 ; + skos:exactMatch UMLS:C1418905, + HGNC:9386, + HGNC_symbol:PRKAG2 ; biolink:category biolink:Gene . OMIM:602744 a owl:Class ; @@ -161363,14 +166167,15 @@ OMIM:602744 a owl:Class ; PMID:9843043 ; RO:0002525 CHR:9606chr1q42.2 ; RO:0003303 OMIM:222765 ; - oboInOwl:hasDbXref UMLS:C1415166 ; oboInOwl:hasExactSynonym "GNPAT", "acyl-coa:dihydroxyacetonephosphate acyltransferase", "dihydroxyacetonephosphate acyltransferase", "glyceronephosphate o-acyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8443 ; - skos:exactMatch HGNC_symbol:GNPAT ; + skos:exactMatch UMLS:C1415166, + HGNC:4416, + HGNC_symbol:GNPAT ; biolink:category biolink:Gene . OMIM:602745 a owl:Class ; @@ -161381,14 +166186,15 @@ OMIM:602745 a owl:Class ; PMID:8841185, PMID:9177790, PMID:9535851 ; - oboInOwl:hasDbXref UMLS:C1418589 ; oboInOwl:hasExactSynonym "PIP5K1B", "mss4, yeast, homolog of", "phosphatidylinositol 4-phosphate 5-kinase, iia i, beta", "stm7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8395 ; - skos:exactMatch HGNC_symbol:PIP5K1B ; + skos:exactMatch UMLS:C1418589, + HGNC:8995, + HGNC_symbol:PIP5K1B ; biolink:category biolink:Gene . OMIM:602746 a owl:Class ; @@ -161405,7 +166211,6 @@ OMIM:602746 a owl:Class ; PMID:9153189, PMID:9162022, PMID:9162061 ; - oboInOwl:hasDbXref UMLS:C1420808 ; oboInOwl:hasExactSynonym "TNFRSF14", "herpesvirus entry mediator", "herpesvirus entry mediator a", @@ -161413,7 +166218,9 @@ OMIM:602746 a owl:Class ; "tumor necrosis factor receptor superfamily, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8764 ; - skos:exactMatch HGNC_symbol:TNFRSF14 ; + skos:exactMatch UMLS:C1420808, + HGNC:11912, + HGNC_symbol:TNFRSF14 ; biolink:category biolink:Gene . OMIM:602747 a owl:Class ; @@ -161422,14 +166229,15 @@ OMIM:602747 a owl:Class ; PMID:23048029, PMID:7535768, PMID:9205128 ; - oboInOwl:hasDbXref UMLS:C1414185 ; oboInOwl:hasExactSynonym "DUSP4", "dual-specificity phosphatase 4", "map kinase phosphatase 2", "vh1 homologous phosphatase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1846 ; - skos:exactMatch HGNC_symbol:DUSP4 ; + skos:exactMatch UMLS:C1414185, + HGNC:3070, + HGNC_symbol:DUSP4 ; biolink:category biolink:Gene . OMIM:602748 a owl:Class ; @@ -161447,14 +166255,15 @@ OMIM:602748 a owl:Class ; PMID:9858808 ; RO:0002525 CHR:9606chr12q21.33 ; RO:0003303 OMIM:615269 ; - oboInOwl:hasDbXref UMLS:C1414187 ; oboInOwl:hasExactSynonym "DUSP6", "dual-specificity phosphatase 6", "map kinase phosphatase 3", "pyst1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1848 ; - skos:exactMatch HGNC_symbol:DUSP6 ; + skos:exactMatch UMLS:C1414187, + HGNC:3072, + HGNC_symbol:DUSP6 ; biolink:category biolink:Gene . OMIM:602749 a owl:Class ; @@ -161463,26 +166272,28 @@ OMIM:602749 a owl:Class ; PMID:8626780, PMID:8670865, PMID:9205128 ; - oboInOwl:hasDbXref UMLS:C1414188 ; oboInOwl:hasExactSynonym "DUSP7", "dual-specificity phosphatase 7", "map kinase phosphatase 10", "pyst2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1849 ; - skos:exactMatch HGNC_symbol:DUSP7 ; + skos:exactMatch UMLS:C1414188, + HGNC:3073, + HGNC_symbol:DUSP7 ; biolink:category biolink:Gene . OMIM:602750 a owl:Class ; rdfs:label "DDT" ; IAO:0000142 PMID:9480844, PMID:9716662 ; - oboInOwl:hasDbXref UMLS:C1413950 ; oboInOwl:hasExactSynonym "DDT", "d-dopachrome tautomerase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1652 ; - skos:exactMatch HGNC_symbol:DDT ; + skos:exactMatch UMLS:C1413950, + HGNC:2732, + HGNC_symbol:DDT ; biolink:category biolink:Gene . OMIM:602751 a owl:Class ; @@ -161495,20 +166306,20 @@ OMIM:602751 a owl:Class ; PMID:8887638, PMID:9479503, PMID:9544839 ; - oboInOwl:hasDbXref UMLS:C1412729 ; oboInOwl:hasExactSynonym "BACH1", "basic leucine zipper transcription factor 1", "btb and cnc homology 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:571 ; - skos:exactMatch HGNC_symbol:BACH1 ; + skos:exactMatch UMLS:C1412729, + HGNC:935, + HGNC_symbol:BACH1 ; biolink:category biolink:Gene . OMIM:602752 a owl:Class ; rdfs:label "RGPD8" ; IAO:0000142 PMID:15710750, PMID:9480752 ; - oboInOwl:hasDbXref UMLS:C1826819 ; oboInOwl:hasExactSynonym "RGPD8", "ranbp2-alpha", "ranbp2-like 1", @@ -161516,7 +166327,9 @@ OMIM:602752 a owl:Class ; "rgp8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:727851 ; - skos:exactMatch HGNC_symbol:RGPD8 ; + skos:exactMatch UMLS:C1826819, + HGNC:9849, + HGNC_symbol:RGPD8 ; biolink:category biolink:Gene . OMIM:602753 a owl:Class ; @@ -161530,13 +166343,14 @@ OMIM:602753 a owl:Class ; PMID:9758620 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:602078 ; - oboInOwl:hasDbXref UMLS:C1412535 ; oboInOwl:hasExactSynonym "PHOX2A", "aristaless homeobox, drosophila, homolog of", "paired-like homeobox 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401 ; - skos:exactMatch HGNC_symbol:PHOX2A ; + skos:exactMatch UMLS:C1412535, + HGNC:691, + HGNC_symbol:PHOX2A ; biolink:category biolink:Gene . OMIM:602754 a owl:Class ; @@ -161560,7 +166374,6 @@ OMIM:602754 a owl:Class ; PMID:9693050 ; RO:0002525 CHR:9606chr19q13.31 ; RO:0003303 OMIM:616689 ; - oboInOwl:hasDbXref UMLS:C1416611 ; oboInOwl:hasExactSynonym "KCNN4", "ik1", "kca3.1", @@ -161569,7 +166382,9 @@ OMIM:602754 a owl:Class ; "sk4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3783 ; - skos:exactMatch HGNC_symbol:KCNN4 ; + skos:exactMatch UMLS:C1416611, + HGNC:6293, + HGNC_symbol:KCNN4 ; biolink:category biolink:Gene . OMIM:602755 a owl:Class ; @@ -161577,12 +166392,13 @@ OMIM:602755 a owl:Class ; IAO:0000142 PMID:7737117, PMID:9539739, PMID:9926943 ; - oboInOwl:hasDbXref UMLS:C1332696 ; oboInOwl:hasExactSynonym "CCNB2", "cyclin b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9133 ; - skos:exactMatch HGNC_symbol:CCNB2 ; + skos:exactMatch UMLS:C1332696, + HGNC:1580, + HGNC_symbol:CCNB2 ; biolink:category biolink:Gene . OMIM:602756 a owl:Class ; @@ -161593,14 +166409,15 @@ OMIM:602756 a owl:Class ; PMID:24094103, PMID:9465306, PMID:9826538 ; - oboInOwl:hasDbXref UMLS:C1414301 ; oboInOwl:hasExactSynonym "EFNA2", "eph-related receptor tyrosine kinase ligand 6", "ephrin a2", "ligand of eph-related kinase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1943 ; - skos:exactMatch HGNC_symbol:EFNA2 ; + skos:exactMatch UMLS:C1414301, + HGNC:3222, + HGNC_symbol:EFNA2 ; biolink:category biolink:Gene . OMIM:602757 a owl:Class ; @@ -161608,13 +166425,14 @@ OMIM:602757 a owl:Class ; IAO:0000142 PMID:10984508, PMID:15599401, PMID:9207182 ; - oboInOwl:hasDbXref UMLS:C1414432 ; oboInOwl:hasExactSynonym "EPHB6", "ephrin receptor ephb6", "human kinase-defective eph-family receptor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2051 ; - skos:exactMatch HGNC_symbol:EPHB6 ; + skos:exactMatch UMLS:C1414432, + HGNC:3396, + HGNC_symbol:EPHB6 ; biolink:category biolink:Gene . OMIM:602758 a owl:Class ; @@ -161628,7 +166446,6 @@ OMIM:602758 a owl:Class ; PMID:9020160, PMID:9405935, PMID:9405938 ; - oboInOwl:hasDbXref UMLS:C1335216 ; oboInOwl:hasExactSynonym "PIK4CB", "phosphatidylinositol 4-kinase, iia iii, beta", "phosphatidylinositol 4-kinase, catalytic, beta", @@ -161637,7 +166454,9 @@ OMIM:602758 a owl:Class ; "pi4kiii-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5298 ; - skos:exactMatch HGNC_symbol:PI4KB ; + skos:exactMatch UMLS:C1335216, + HGNC:8984, + HGNC_symbol:PI4KB ; biolink:category biolink:Gene . OMIM:602760 a owl:Class ; @@ -161648,7 +166467,6 @@ OMIM:602760 a owl:Class ; PMID:7556444, PMID:8823373, PMID:9756910 ; - oboInOwl:hasDbXref UMLS:C1416749 ; oboInOwl:hasExactSynonym "KRT32", "k32", "ka26", @@ -161657,7 +166475,9 @@ OMIM:602760 a owl:Class ; "keratin, hard, iia i, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3882 ; - skos:exactMatch HGNC_symbol:KRT32 ; + skos:exactMatch UMLS:C1416749, + HGNC:6449, + HGNC_symbol:KRT32 ; biolink:category biolink:Gene . OMIM:602761 a owl:Class ; @@ -161666,7 +166486,6 @@ OMIM:602761 a owl:Class ; PMID:7565656, PMID:7686952, PMID:9756910 ; - oboInOwl:hasDbXref UMLS:C1825748 ; oboInOwl:hasExactSynonym "KRT33A", "k33a", "ka27", @@ -161675,7 +166494,9 @@ OMIM:602761 a owl:Class ; "keratin, hard, iia i, 3i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3883 ; - skos:exactMatch HGNC_symbol:KRT33A ; + skos:exactMatch UMLS:C1825748, + HGNC:6450, + HGNC_symbol:KRT33A ; biolink:category biolink:Gene . OMIM:602762 a owl:Class ; @@ -161683,7 +166504,6 @@ OMIM:602762 a owl:Class ; IAO:0000142 PMID:10391933, PMID:7565656, PMID:9756910 ; - oboInOwl:hasDbXref UMLS:C1825749 ; oboInOwl:hasExactSynonym "KRT33B", "k33b", "ka28", @@ -161692,7 +166512,9 @@ OMIM:602762 a owl:Class ; "keratin, hard, iia i, 3ii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3884 ; - skos:exactMatch HGNC_symbol:KRT33B ; + skos:exactMatch UMLS:C1825749, + HGNC:6451, + HGNC_symbol:KRT33B ; biolink:category biolink:Gene . OMIM:602763 a owl:Class ; @@ -161700,7 +166522,6 @@ OMIM:602763 a owl:Class ; IAO:0000142 PMID:10391933, PMID:2431943, PMID:9756910 ; - oboInOwl:hasDbXref UMLS:C1825750 ; oboInOwl:hasExactSynonym "KRT34", "k34", "ka29", @@ -161709,7 +166530,9 @@ OMIM:602763 a owl:Class ; "keratin, hard, iia i, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3885 ; - skos:exactMatch HGNC_symbol:KRT34 ; + skos:exactMatch UMLS:C1825750, + HGNC:6452, + HGNC_symbol:KRT34 ; biolink:category biolink:Gene . OMIM:602764 a owl:Class ; @@ -161717,7 +166540,6 @@ OMIM:602764 a owl:Class ; IAO:0000142 PMID:10391933, PMID:8823373, PMID:9756910 ; - oboInOwl:hasDbXref UMLS:C1825751 ; oboInOwl:hasExactSynonym "KRT35", "k35", "ka30", @@ -161726,7 +166548,9 @@ OMIM:602764 a owl:Class ; "keratin, hard, iia i, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3886 ; - skos:exactMatch HGNC_symbol:KRT35 ; + skos:exactMatch UMLS:C1825751, + HGNC:6453, + HGNC_symbol:KRT35 ; biolink:category biolink:Gene . OMIM:602765 a owl:Class ; @@ -161737,7 +166561,6 @@ OMIM:602765 a owl:Class ; PMID:9084137 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:158000 ; - oboInOwl:hasDbXref UMLS:C1825770 ; oboInOwl:hasExactSynonym "KRT83", "k2.10", "k83", @@ -161747,13 +166570,14 @@ OMIM:602765 a owl:Class ; "keratin, hard, iia ii, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3889 ; - skos:exactMatch HGNC_symbol:KRT83 ; + skos:exactMatch UMLS:C1825770, + HGNC:6460, + HGNC_symbol:KRT83 ; biolink:category biolink:Gene . OMIM:602766 a owl:Class ; rdfs:label "KRT84" ; IAO:0000142 PMID:2431943 ; - oboInOwl:hasDbXref UMLS:C1825771 ; oboInOwl:hasExactSynonym "KRT84", "k84", "kb24", @@ -161762,7 +166586,9 @@ OMIM:602766 a owl:Class ; "keratin, hard, iia ii, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3890 ; - skos:exactMatch HGNC_symbol:KRT84 ; + skos:exactMatch UMLS:C1825771, + HGNC:6461, + HGNC_symbol:KRT84 ; biolink:category biolink:Gene . OMIM:602767 a owl:Class ; @@ -161772,7 +166598,6 @@ OMIM:602767 a owl:Class ; PMID:9084137 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:602032 ; - oboInOwl:hasDbXref UMLS:C1825772 ; oboInOwl:hasExactSynonym "KRT85", "k2.12", "k85", @@ -161782,7 +166607,9 @@ OMIM:602767 a owl:Class ; "keratin, hard, iia ii, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3891 ; - skos:exactMatch HGNC_symbol:KRT85 ; + skos:exactMatch UMLS:C1825772, + HGNC:6462, + HGNC_symbol:KRT85 ; biolink:category biolink:Gene . OMIM:602768 a owl:Class ; @@ -161803,15 +166630,16 @@ OMIM:602768 a owl:Class ; PMID:9662403 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:277300 ; - oboInOwl:hasDbXref UMLS:C0265343, - UMLS:C1414071 ; oboInOwl:hasExactSynonym "DLL3", "delta, drosophila, homolog of", "delta-like 3", "delta-like canonical notch ligand 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10683 ; - skos:exactMatch HGNC_symbol:DLL3 ; + skos:exactMatch UMLS:C0265343, + UMLS:C1414071, + HGNC:2909, + HGNC_symbol:DLL3 ; biolink:category biolink:Gene . OMIM:602769 a owl:Class ; @@ -161862,15 +166690,16 @@ OMIM:602769 a owl:Class ; PMID:9662389 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:615879 ; - oboInOwl:hasDbXref UMLS:C1414123, - UMLS:C4014545, - UMLS:C4015936, - UMLS:C5231475 ; oboInOwl:hasExactSynonym "DNA methyltransferase 3a", "DNMT3A" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1788 ; - skos:exactMatch HGNC_symbol:DNMT3A ; + skos:exactMatch UMLS:C1414123, + UMLS:C4014545, + UMLS:C4015936, + UMLS:C5231475, + HGNC:2978, + HGNC_symbol:DNMT3A ; biolink:category biolink:Gene . OMIM:602770 a owl:Class ; @@ -161885,26 +166714,28 @@ OMIM:602770 a owl:Class ; PMID:9641679 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:613080 ; - oboInOwl:hasDbXref UMLS:C1413157 ; oboInOwl:hasExactSynonym "CBX2", "chromobox 2", "chromobox homolog 2, drosophila polycomb class", "m33, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84733 ; - skos:exactMatch HGNC_symbol:CBX2 ; + skos:exactMatch UMLS:C1413157, + HGNC:1552, + HGNC_symbol:CBX2 ; biolink:category biolink:Gene . OMIM:602773 a owl:Class ; rdfs:label "SLC49A4" ; IAO:0000142 PMID:11912179 ; - oboInOwl:hasDbXref UMLS:C1424449 ; oboInOwl:hasExactSynonym "SLC49A4", "disrupted 1n renal carcinoma 2", "solute carrier family 49, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84925 ; - skos:exactMatch HGNC_symbol:SLC49A4 ; + skos:exactMatch UMLS:C1424449, + HGNC:16628, + HGNC_symbol:SLC49A4 ; biolink:category biolink:Gene . OMIM:602774 a owl:Class ; @@ -161921,13 +166752,14 @@ OMIM:602774 a owl:Class ; PMID:9469824 ; RO:0002525 CHR:9606chr17q22 ; RO:0003303 OMIM:613399 ; - oboInOwl:hasDbXref UMLS:C1335580 ; oboInOwl:hasExactSynonym "RAD51C", "rad51 paralog c", "rad51, s. cerevisiae, homolog of, c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5889 ; - skos:exactMatch HGNC_symbol:RAD51C ; + skos:exactMatch UMLS:C1335580, + HGNC:9820, + HGNC_symbol:RAD51C ; biolink:category biolink:Gene . OMIM:602775 a owl:Class ; @@ -161945,15 +166777,16 @@ OMIM:602775 a owl:Class ; PMID:9674433 ; RO:0002525 CHR:9606chr10q25.2 ; RO:0003303 OMIM:607721 ; - oboInOwl:hasDbXref UMLS:C1423500, - UMLS:C4478716 ; oboInOwl:hasExactSynonym "SHOC2", "ras-binding protein sur8, c. elegans, homolog of", "shoc2 leucine-rich repeat scaffold protein", "suppressor of clear, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8036 ; - skos:exactMatch HGNC_symbol:SHOC2 ; + skos:exactMatch UMLS:C1423500, + UMLS:C4478716, + HGNC:15454, + HGNC_symbol:SHOC2 ; biolink:category biolink:Gene . OMIM:602776 a owl:Class ; @@ -161964,20 +166797,20 @@ OMIM:602776 a owl:Class ; PMID:9618506, PMID:9635887, PMID:9925914 ; - oboInOwl:hasDbXref UMLS:C1419347 ; oboInOwl:hasExactSynonym "REV3L", "polymerase, dna, zeta", "rev3", "rev3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5980 ; - skos:exactMatch HGNC_symbol:REV3L ; + skos:exactMatch UMLS:C1419347, + HGNC:9968, + HGNC_symbol:REV3L ; biolink:category biolink:Gene . OMIM:602777 a owl:Class ; rdfs:label "SNAPC4" ; IAO:0000142 PMID:9418884 ; - oboInOwl:hasDbXref UMLS:C1420275 ; oboInOwl:hasExactSynonym "SNAPC4", "pse-binding transcription factor, alpha", "ptf-alpha", @@ -161985,7 +166818,9 @@ OMIM:602777 a owl:Class ; "small nuclear rna-activating protein complex, polypeptide 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6621 ; - skos:exactMatch HGNC_symbol:SNAPC4 ; + skos:exactMatch UMLS:C1420275, + HGNC:11137, + HGNC_symbol:SNAPC4 ; biolink:category biolink:Gene . OMIM:602778 a owl:Class ; @@ -161995,14 +166830,15 @@ OMIM:602778 a owl:Class ; PMID:9134503, PMID:9177477, PMID:9537518 ; - oboInOwl:hasDbXref UMLS:C1417840 ; oboInOwl:hasExactSynonym "NR6A1", "germ cell nuclear factor", "nuclear receptor subfamily 6, group a, member 1", "retinoid receptor-related testis-associated receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2649 ; - skos:exactMatch HGNC_symbol:NR6A1 ; + skos:exactMatch UMLS:C1417840, + HGNC:7985, + HGNC_symbol:NR6A1 ; biolink:category biolink:Gene . OMIM:602779 a owl:Class ; @@ -162011,14 +166847,15 @@ OMIM:602779 a owl:Class ; PMID:11544528, PMID:9618465, PMID:9716134 ; - oboInOwl:hasDbXref UMLS:C1414508 ; oboInOwl:hasExactSynonym "F2RL3", "coagulation factor 2 receptor-like 3", "protease-activated receptor 4", "thrombin receptor-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9002 ; - skos:exactMatch HGNC_symbol:F2RL3 ; + skos:exactMatch UMLS:C1414508, + HGNC:3540, + HGNC_symbol:F2RL3 ; biolink:category biolink:Gene . OMIM:602780 a owl:Class ; @@ -162037,16 +166874,17 @@ OMIM:602780 a owl:Class ; PMID:9630217 ; RO:0002525 CHR:9606chr5p12 ; RO:0003303 OMIM:618482 ; - oboInOwl:hasDbXref UMLS:C1415498, - UMLS:C4014531, - UMLS:C5193120 ; oboInOwl:hasExactSynonym "HCN1", "brain cyclic-nucleotide gated 1", "hyperpolarization-activated cyclic nucleotide-gated potassium channel 1", "potassium channel, voltage-gated, brain, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348980 ; - skos:exactMatch HGNC_symbol:HCN1 ; + skos:exactMatch UMLS:C1415498, + UMLS:C4014531, + UMLS:C5193120, + HGNC:4845, + HGNC_symbol:HCN1 ; biolink:category biolink:Gene . OMIM:602781 a owl:Class ; @@ -162060,14 +166898,15 @@ OMIM:602781 a owl:Class ; PMID:9630217 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:602477 ; - oboInOwl:hasDbXref UMLS:C1415499 ; oboInOwl:hasExactSynonym "HCN2", "brain cyclic-nucleotide gated 2", "hyperpolarization-activated cyclic nucleotide-gated potassium channel 2", "potassium channel, voltage-gated, brain, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:610 ; - skos:exactMatch HGNC_symbol:HCN2 ; + skos:exactMatch UMLS:C1415499, + HGNC:4846, + HGNC_symbol:HCN2 ; biolink:category biolink:Gene . OMIM:602784 a owl:Class ; @@ -162078,25 +166917,27 @@ OMIM:602784 a owl:Class ; PMID:8622767, PMID:9125122, PMID:9205124 ; - oboInOwl:hasDbXref UMLS:C1413627 ; oboInOwl:hasExactSynonym "CORT", "cortistatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1325 ; - skos:exactMatch HGNC_symbol:CORT ; + skos:exactMatch UMLS:C1413627, + HGNC:2257, + HGNC_symbol:CORT ; biolink:category biolink:Gene . OMIM:602785 a owl:Class ; rdfs:label "H1FX" ; IAO:0000142 PMID:19059319, PMID:8964515 ; - oboInOwl:hasDbXref UMLS:C1415391 ; oboInOwl:hasExactSynonym "H1FX", "h1 histone family, member 10", "h1x" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8971 ; - skos:exactMatch HGNC_symbol:H1-10 ; + skos:exactMatch UMLS:C1415391, + HGNC:4722, + HGNC_symbol:H1-10 ; biolink:category biolink:Gene . OMIM:602786 a owl:Class ; @@ -162105,7 +166946,6 @@ OMIM:602786 a owl:Class ; PMID:1916825, PMID:9119399, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415392 ; oboInOwl:hasExactSynonym "HIST1H2AE", "h2a histone family, member a", "h2a.1", @@ -162115,14 +166955,15 @@ OMIM:602786 a owl:Class ; "histone gene cluster 1, h2ae" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3012 ; - skos:exactMatch HGNC_symbol:H2AC8 ; + skos:exactMatch UMLS:C1415392, + HGNC:4724, + HGNC_symbol:H2AC8 ; biolink:category biolink:Gene . OMIM:602787 a owl:Class ; rdfs:label "HIST1H2AI" ; IAO:0000142 PMID:12408966, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415393 ; oboInOwl:hasExactSynonym "HIST1H2AI", "h2a histone family, member c", "h2a/c", @@ -162131,14 +166972,15 @@ OMIM:602787 a owl:Class ; "histone gene cluster 1, h2ai" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8329 ; - skos:exactMatch HGNC_symbol:H2AC13 ; + skos:exactMatch UMLS:C1415393, + HGNC:4725, + HGNC_symbol:H2AC13 ; biolink:category biolink:Gene . OMIM:602788 a owl:Class ; rdfs:label "HIST1H2AK" ; IAO:0000142 PMID:12408966, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415394 ; oboInOwl:hasExactSynonym "HIST1H2AK", "h2a histone family, member d", "h2a/d", @@ -162148,7 +166990,9 @@ OMIM:602788 a owl:Class ; "histone gene cluster 1, h2ak" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8330 ; - skos:exactMatch HGNC_symbol:H2AC15 ; + skos:exactMatch UMLS:C1415394, + HGNC:4726, + HGNC_symbol:H2AC15 ; biolink:category biolink:Gene . OMIM:602789 a owl:Class ; @@ -162160,20 +167004,20 @@ OMIM:602790 a owl:Class ; IAO:0000142 PMID:10226657, PMID:11046156, PMID:8753811 ; - oboInOwl:hasDbXref UMLS:C1414613 ; oboInOwl:hasExactSynonym "FHL3", "four-and-a-half 51m domains 3", "slim2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2275 ; - skos:exactMatch HGNC_symbol:FHL3 ; + skos:exactMatch UMLS:C1414613, + HGNC:3704, + HGNC_symbol:FHL3 ; biolink:category biolink:Gene . OMIM:602791 a owl:Class ; rdfs:label "HIST1H2AJ" ; IAO:0000142 PMID:12408966, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415395 ; oboInOwl:hasExactSynonym "HIST1H2AJ", "h2a histone family, member e", "h2a/e", @@ -162183,14 +167027,15 @@ OMIM:602791 a owl:Class ; "histone gene cluster 1, h2aj" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8331 ; - skos:exactMatch HGNC_symbol:H2AC14 ; + skos:exactMatch UMLS:C1415395, + HGNC:4727, + HGNC_symbol:H2AC14 ; biolink:category biolink:Gene . OMIM:602792 a owl:Class ; rdfs:label "HIST1H2AD" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415397 ; oboInOwl:hasExactSynonym "HIST1H2AD", "h2a histone family, member g", "h2a/g", @@ -162199,7 +167044,9 @@ OMIM:602792 a owl:Class ; "histone gene cluster 1, h2ad" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3013 ; - skos:exactMatch HGNC_symbol:H2AC7 ; + skos:exactMatch UMLS:C1415397, + HGNC:4729, + HGNC_symbol:H2AC7 ; biolink:category biolink:Gene . OMIM:602793 a owl:Class ; @@ -162207,7 +167054,6 @@ OMIM:602793 a owl:Class ; IAO:0000142 PMID:12408966, PMID:9031620, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415398 ; oboInOwl:hasExactSynonym "HIST1H2AL", "h2a histone family, member 1", "h2a/i", @@ -162216,14 +167062,15 @@ OMIM:602793 a owl:Class ; "histone gene cluster 1, h2al" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8332 ; - skos:exactMatch HGNC_symbol:H2AC16 ; + skos:exactMatch UMLS:C1415398, + HGNC:4730, + HGNC_symbol:H2AC16 ; biolink:category biolink:Gene . OMIM:602794 a owl:Class ; rdfs:label "HIST1H2AC" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415400 ; oboInOwl:hasExactSynonym "HIST1H2AC", "h2a histone family, member 50", "h2a/l", @@ -162232,7 +167079,9 @@ OMIM:602794 a owl:Class ; "histone gene cluster 1, h2ac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8334 ; - skos:exactMatch HGNC_symbol:H2AC6 ; + skos:exactMatch UMLS:C1415400, + HGNC:4733, + HGNC_symbol:H2AC6 ; biolink:category biolink:Gene . OMIM:602795 a owl:Class ; @@ -162241,7 +167090,6 @@ OMIM:602795 a owl:Class ; PMID:6647026, PMID:9119399, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415401 ; oboInOwl:hasExactSynonym "HIST1H2AB", "h2a histone family, member m", "h2a/m", @@ -162250,7 +167098,9 @@ OMIM:602795 a owl:Class ; "histone gene cluster 1, h2ab" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8335 ; - skos:exactMatch HGNC_symbol:H2AC4 ; + skos:exactMatch UMLS:C1415401, + HGNC:4734, + HGNC_symbol:H2AC4 ; biolink:category biolink:Gene . OMIM:602796 a owl:Class ; @@ -162258,7 +167108,6 @@ OMIM:602796 a owl:Class ; IAO:0000142 PMID:12408966, PMID:1768865, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415402 ; oboInOwl:hasExactSynonym "HIST1H2AM", "h2a histone family, member n", "h2a.1", @@ -162268,7 +167117,9 @@ OMIM:602796 a owl:Class ; "histone gene cluster 1, h2am" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8336 ; - skos:exactMatch HGNC_symbol:H2AC17 ; + skos:exactMatch UMLS:C1415402, + HGNC:4735, + HGNC_symbol:H2AC17 ; biolink:category biolink:Gene . OMIM:602797 a owl:Class ; @@ -162276,7 +167127,6 @@ OMIM:602797 a owl:Class ; IAO:0000142 PMID:12408966, PMID:1469070, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415405 ; oboInOwl:hasExactSynonym "HIST2H2AC", "h2a histone family, member q", "h2a/q", @@ -162285,7 +167135,9 @@ OMIM:602797 a owl:Class ; "histone gene cluster 2, h2ac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8338 ; - skos:exactMatch HGNC_symbol:H2AC20 ; + skos:exactMatch UMLS:C1415405, + HGNC:4738, + HGNC_symbol:H2AC20 ; biolink:category biolink:Gene . OMIM:602798 a owl:Class ; @@ -162294,7 +167146,6 @@ OMIM:602798 a owl:Class ; PMID:1916825, PMID:9119399, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415410 ; oboInOwl:hasExactSynonym "HIST1H2BG", "h2b histone family, member a", "h2b.1a", @@ -162304,7 +167155,9 @@ OMIM:602798 a owl:Class ; "histone gene cluster 1, h2bg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8339 ; - skos:exactMatch HGNC_symbol:H2BC8 ; + skos:exactMatch UMLS:C1415410, + HGNC:4746, + HGNC_symbol:H2BC8 ; biolink:category biolink:Gene . OMIM:602799 a owl:Class ; @@ -162313,7 +167166,6 @@ OMIM:602799 a owl:Class ; PMID:1916825, PMID:9119399, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415411 ; oboInOwl:hasExactSynonym "HIST1H2BD", "h2b histone family, member B", "h2b.1b", @@ -162323,14 +167175,15 @@ OMIM:602799 a owl:Class ; "histone gene cluster 1, h2bd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3017 ; - skos:exactMatch HGNC_symbol:H2BC5 ; + skos:exactMatch UMLS:C1415411, + HGNC:4747, + HGNC_symbol:H2BC5 ; biolink:category biolink:Gene . OMIM:602800 a owl:Class ; rdfs:label "HIST1H2BL" ; IAO:0000142 PMID:12408966, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415412 ; oboInOwl:hasExactSynonym "HIST1H2BL", "h2b histone family, member c", "h2b/c", @@ -162339,14 +167192,15 @@ OMIM:602800 a owl:Class ; "histone gene cluster 1, h2bl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8340 ; - skos:exactMatch HGNC_symbol:H2BC13 ; + skos:exactMatch UMLS:C1415412, + HGNC:4748, + HGNC_symbol:H2BC13 ; biolink:category biolink:Gene . OMIM:602801 a owl:Class ; rdfs:label "HIST1H2BN" ; IAO:0000142 PMID:12408966, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415413 ; oboInOwl:hasExactSynonym "HIST1H2BN", "h2b histone family, member d", "h2b/d", @@ -162355,14 +167209,15 @@ OMIM:602801 a owl:Class ; "histone gene cluster 1, h2bn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8341 ; - skos:exactMatch HGNC_symbol:H2BC15 ; + skos:exactMatch UMLS:C1415413, + HGNC:4749, + HGNC_symbol:H2BC15 ; biolink:category biolink:Gene . OMIM:602802 a owl:Class ; rdfs:label "HIST1H2BM" ; IAO:0000142 PMID:12408966, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415414 ; oboInOwl:hasExactSynonym "HIST1H2BM", "h2b histone family, member e", "h2b/e", @@ -162371,7 +167226,9 @@ OMIM:602802 a owl:Class ; "histone gene cluster 1, h2bm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8342 ; - skos:exactMatch HGNC_symbol:H2BC14 ; + skos:exactMatch UMLS:C1415414, + HGNC:4750, + HGNC_symbol:H2BC14 ; biolink:category biolink:Gene . OMIM:602803 a owl:Class ; @@ -162380,7 +167237,6 @@ OMIM:602803 a owl:Class ; PMID:8227173, PMID:9119399, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415415 ; oboInOwl:hasExactSynonym "HIST1H2BB", "h2b histone family, member f", "h2b.1", @@ -162390,14 +167246,15 @@ OMIM:602803 a owl:Class ; "histone gene cluster 1, h2bb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3018 ; - skos:exactMatch HGNC_symbol:H2BC3 ; + skos:exactMatch UMLS:C1415415, + HGNC:4751, + HGNC_symbol:H2BC3 ; biolink:category biolink:Gene . OMIM:602804 a owl:Class ; rdfs:label "HIST1H2BF" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415416 ; oboInOwl:hasExactSynonym "HIST1H2BF", "h2b histone family, member g", "h2b/g", @@ -162406,14 +167263,15 @@ OMIM:602804 a owl:Class ; "histone gene cluster 1, h2bf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8343 ; - skos:exactMatch HGNC_symbol:H2BC7 ; + skos:exactMatch UMLS:C1415416, + HGNC:4752, + HGNC_symbol:H2BC7 ; biolink:category biolink:Gene . OMIM:602805 a owl:Class ; rdfs:label "HIST1H2BE" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415417 ; oboInOwl:hasExactSynonym "HIST1H2BE", "h2b histone family, member h", "h2b/h", @@ -162422,14 +167280,15 @@ OMIM:602805 a owl:Class ; "histone gene cluster 1, h2be" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8344 ; - skos:exactMatch HGNC_symbol:H2BC6 ; + skos:exactMatch UMLS:C1415417, + HGNC:4753, + HGNC_symbol:H2BC6 ; biolink:category biolink:Gene . OMIM:602806 a owl:Class ; rdfs:label "HIST1H2BH" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415419 ; oboInOwl:hasExactSynonym "HIST1H2BH", "h2b histone family, member j", "h2b/j", @@ -162438,14 +167297,15 @@ OMIM:602806 a owl:Class ; "histone gene cluster 1, h2bh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8345 ; - skos:exactMatch HGNC_symbol:H2BC9 ; + skos:exactMatch UMLS:C1415419, + HGNC:4755, + HGNC_symbol:H2BC9 ; biolink:category biolink:Gene . OMIM:602807 a owl:Class ; rdfs:label "HIST1H2BI" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415420 ; oboInOwl:hasExactSynonym "HIST1H2BI", "h2b histone family, member k", "h2b/k", @@ -162454,7 +167314,9 @@ OMIM:602807 a owl:Class ; "histone gene cluster 1, h2bi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8346 ; - skos:exactMatch HGNC_symbol:H2BC10 ; + skos:exactMatch UMLS:C1415420, + HGNC:4756, + HGNC_symbol:H2BC10 ; biolink:category biolink:Gene . OMIM:602808 a owl:Class ; @@ -162462,7 +167324,6 @@ OMIM:602808 a owl:Class ; IAO:0000142 PMID:12408966, PMID:1768865, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415422 ; oboInOwl:hasExactSynonym "HIST1H2BO", "h2b histone family, member n", "h2b.2", @@ -162472,7 +167333,9 @@ OMIM:602808 a owl:Class ; "histone gene cluster 1, h2bo" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8348 ; - skos:exactMatch HGNC_symbol:H2BC17 ; + skos:exactMatch UMLS:C1415422, + HGNC:4758, + HGNC_symbol:H2BC17 ; biolink:category biolink:Gene . OMIM:602809 a owl:Class ; @@ -162490,7 +167353,6 @@ OMIM:602809 a owl:Class ; PMID:7514426, PMID:8606779, PMID:9657148 ; - oboInOwl:hasDbXref UMLS:C1416639 ; oboInOwl:hasExactSynonym "KIF5B", "kinesin 1 heavy chain", "kinesin family member 5b", @@ -162498,7 +167360,9 @@ OMIM:602809 a owl:Class ; "kinh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3799 ; - skos:exactMatch HGNC_symbol:KIF5B ; + skos:exactMatch UMLS:C1416639, + HGNC:6324, + HGNC_symbol:KIF5B ; biolink:category biolink:Gene . OMIM:602810 a owl:Class ; @@ -162556,7 +167420,6 @@ OMIM:602810 a owl:Class ; PMID:23665959, PMID:27174990, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415429 ; oboInOwl:hasExactSynonym "HIST1H3A", "h3 histone family, member a", "h3/a", @@ -162565,14 +167428,15 @@ OMIM:602810 a owl:Class ; "histone gene cluster 1, h3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8350 ; - skos:exactMatch HGNC_symbol:H3C1 ; + skos:exactMatch UMLS:C1415429, + HGNC:4766, + HGNC_symbol:H3C1 ; biolink:category biolink:Gene . OMIM:602811 a owl:Class ; rdfs:label "HIST1H3D" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415430 ; oboInOwl:hasExactSynonym "HIST1H3D", "h3 histone family, member B", "h3/b", @@ -162581,7 +167445,9 @@ OMIM:602811 a owl:Class ; "histone gene cluster 1, h3d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8351 ; - skos:exactMatch HGNC_symbol:H3C4 ; + skos:exactMatch UMLS:C1415430, + HGNC:4767, + HGNC_symbol:H3C4 ; biolink:category biolink:Gene . OMIM:602812 a owl:Class ; @@ -162590,7 +167456,6 @@ OMIM:602812 a owl:Class ; PMID:8227173, PMID:9119399, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415431 ; oboInOwl:hasExactSynonym "HIST1H3C", "h3 histone family, member c", "h3/c", @@ -162599,7 +167464,9 @@ OMIM:602812 a owl:Class ; "histone gene cluster 1, h3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8352 ; - skos:exactMatch HGNC_symbol:H3C3 ; + skos:exactMatch UMLS:C1415431, + HGNC:4768, + HGNC_symbol:H3C3 ; biolink:category biolink:Gene . OMIM:602813 a owl:Class ; @@ -162608,7 +167475,6 @@ OMIM:602813 a owl:Class ; PMID:1916825, PMID:9119399, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415432 ; oboInOwl:hasExactSynonym "HIST1H3E", "h3 histone family, member d", "h3/d", @@ -162617,7 +167483,9 @@ OMIM:602813 a owl:Class ; "histone gene cluster 1, h3e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8353 ; - skos:exactMatch HGNC_symbol:H3C6 ; + skos:exactMatch UMLS:C1415432, + HGNC:4769, + HGNC_symbol:H3C6 ; biolink:category biolink:Gene . OMIM:602814 a owl:Class ; @@ -162625,7 +167493,6 @@ OMIM:602814 a owl:Class ; IAO:0000142 PMID:12408966, PMID:9031620, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415434 ; oboInOwl:hasExactSynonym "HIST1H3I", "h3 histone family, member f", "h3/f", @@ -162634,14 +167501,15 @@ OMIM:602814 a owl:Class ; "histone gene cluster 1, h3i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8354 ; - skos:exactMatch HGNC_symbol:H3C11 ; + skos:exactMatch UMLS:C1415434, + HGNC:4771, + HGNC_symbol:H3C11 ; biolink:category biolink:Gene . OMIM:602815 a owl:Class ; rdfs:label "HIST1H3G" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415435 ; oboInOwl:hasExactSynonym "HIST1H3G", "h3 histone family, member h", "h3/h", @@ -162650,14 +167518,15 @@ OMIM:602815 a owl:Class ; "histone gene cluster 1, h3g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8355 ; - skos:exactMatch HGNC_symbol:H3C8 ; + skos:exactMatch UMLS:C1415435, + HGNC:4772, + HGNC_symbol:H3C8 ; biolink:category biolink:Gene . OMIM:602816 a owl:Class ; rdfs:label "HIST1H3F" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415436 ; oboInOwl:hasExactSynonym "HIST1H3F", "h3 histone family, member 1", "h3/i", @@ -162666,14 +167535,15 @@ OMIM:602816 a owl:Class ; "histone gene cluster 1, h3f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8968 ; - skos:exactMatch HGNC_symbol:H3C7 ; + skos:exactMatch UMLS:C1415436, + HGNC:4773, + HGNC_symbol:H3C7 ; biolink:category biolink:Gene . OMIM:602817 a owl:Class ; rdfs:label "HIST1H3J" ; IAO:0000142 PMID:12408966, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415437 ; oboInOwl:hasExactSynonym "HIST1H3J", "h3 histone family, member j", "h3/j", @@ -162682,14 +167552,15 @@ OMIM:602817 a owl:Class ; "histone gene cluster 1, h3j" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8356 ; - skos:exactMatch HGNC_symbol:H3C12 ; + skos:exactMatch UMLS:C1415437, + HGNC:4774, + HGNC_symbol:H3C12 ; biolink:category biolink:Gene . OMIM:602818 a owl:Class ; rdfs:label "HIST1H3H" ; IAO:0000142 PMID:12408966, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415438 ; oboInOwl:hasExactSynonym "HIST1H3H", "h3 histone family, member k", "h3/k", @@ -162698,7 +167569,9 @@ OMIM:602818 a owl:Class ; "histone gene cluster 1, h3h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8357 ; - skos:exactMatch HGNC_symbol:H3C10 ; + skos:exactMatch UMLS:C1415438, + HGNC:4775, + HGNC_symbol:H3C10 ; biolink:category biolink:Gene . OMIM:602819 a owl:Class ; @@ -162709,7 +167582,6 @@ OMIM:602819 a owl:Class ; PMID:6647026, PMID:9119399, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415439 ; oboInOwl:hasExactSynonym "HIST1H3B", "h3 histone family, member 50", "h3/l", @@ -162718,7 +167590,9 @@ OMIM:602819 a owl:Class ; "histone gene cluster 1, h3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8358 ; - skos:exactMatch HGNC_symbol:H3C2 ; + skos:exactMatch UMLS:C1415439, + HGNC:4776, + HGNC_symbol:H3C2 ; biolink:category biolink:Gene . OMIM:602820 a owl:Class ; @@ -162727,7 +167601,6 @@ OMIM:602820 a owl:Class ; PMID:18281699, PMID:8834248, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1442482 ; oboInOwl:hasExactSynonym "HIST3H3", "h3 histone family, member t", "h3.4", @@ -162736,7 +167609,9 @@ OMIM:602820 a owl:Class ; "histone gene cluster 3, h3 histone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8290 ; - skos:exactMatch HGNC_symbol:H3-4 ; + skos:exactMatch UMLS:C1442482, + HGNC:4778, + HGNC_symbol:H3-4 ; biolink:category biolink:Gene . OMIM:602821 a owl:Class ; @@ -162760,13 +167635,14 @@ OMIM:602821 a owl:Class ; PMID:9858832 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:617921 ; - oboInOwl:hasDbXref UMLS:C1416638 ; oboInOwl:hasExactSynonym "KIF5A", "kinesin family member 5a", "kinesin, heavy chain, neuron-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3798 ; - skos:exactMatch HGNC_symbol:KIF5A ; + skos:exactMatch UMLS:C1416638, + HGNC:6323, + HGNC_symbol:KIF5A ; biolink:category biolink:Gene . OMIM:602822 a owl:Class ; @@ -162801,7 +167677,6 @@ OMIM:602822 a owl:Class ; PMID:7290213, PMID:752503, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415441 ; oboInOwl:hasExactSynonym "HIST1H4A", "h4 histone family, member a", "h4/a", @@ -162810,14 +167685,15 @@ OMIM:602822 a owl:Class ; "histone gene cluster 1, h4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8359 ; - skos:exactMatch HGNC_symbol:H4C1 ; + skos:exactMatch UMLS:C1415441, + HGNC:4781, + HGNC_symbol:H4C1 ; biolink:category biolink:Gene . OMIM:602823 a owl:Class ; rdfs:label "HIST1H4D" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415442 ; oboInOwl:hasExactSynonym "HIST1H4D", "h4 histone family, member B", "h4/b", @@ -162826,7 +167702,9 @@ OMIM:602823 a owl:Class ; "histone gene cluster 1, h4d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8360 ; - skos:exactMatch HGNC_symbol:H4C4 ; + skos:exactMatch UMLS:C1415442, + HGNC:4782, + HGNC_symbol:H4C4 ; biolink:category biolink:Gene . OMIM:602824 a owl:Class ; @@ -162835,7 +167713,6 @@ OMIM:602824 a owl:Class ; PMID:1916825, PMID:9119399, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415443 ; oboInOwl:hasExactSynonym "HIST1H4F", "h4 histone family, member c", "h4/c", @@ -162844,14 +167721,15 @@ OMIM:602824 a owl:Class ; "histone gene cluster 1, h4f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8361 ; - skos:exactMatch HGNC_symbol:H4C6 ; + skos:exactMatch UMLS:C1415443, + HGNC:4783, + HGNC_symbol:H4C6 ; biolink:category biolink:Gene . OMIM:602825 a owl:Class ; rdfs:label "HIST1H4K" ; IAO:0000142 PMID:12408966, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415444 ; oboInOwl:hasExactSynonym "HIST1H4K", "h4 histone family, member d", "h4/d", @@ -162860,7 +167738,9 @@ OMIM:602825 a owl:Class ; "histone gene cluster 1, h4k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8362 ; - skos:exactMatch HGNC_symbol:H4C12 ; + skos:exactMatch UMLS:C1415444, + HGNC:4784, + HGNC_symbol:H4C12 ; biolink:category biolink:Gene . OMIM:602826 a owl:Class ; @@ -162870,7 +167750,6 @@ OMIM:602826 a owl:Class ; PMID:9439656 ; RO:0002525 CHR:9606chr6p22.1 ; RO:0003303 OMIM:619759 ; - oboInOwl:hasDbXref UMLS:C1415445 ; oboInOwl:hasExactSynonym "HIST1H4J", "h4 histone family, member e", "h4/e", @@ -162879,7 +167758,9 @@ OMIM:602826 a owl:Class ; "histone gene cluster 1, h4j" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8363 ; - skos:exactMatch HGNC_symbol:H4C11 ; + skos:exactMatch UMLS:C1415445, + HGNC:4785, + HGNC_symbol:H4C11 ; biolink:category biolink:Gene . OMIM:602827 a owl:Class ; @@ -162888,7 +167769,6 @@ OMIM:602827 a owl:Class ; PMID:9119399 ; RO:0002525 CHR:9606chr6p22.2 ; RO:0003303 OMIM:619758 ; - oboInOwl:hasDbXref UMLS:C1415447 ; oboInOwl:hasExactSynonym "HIST1H4C", "h4 histone family, member g", "h4/g", @@ -162897,14 +167777,15 @@ OMIM:602827 a owl:Class ; "histone gene cluster 1, h4c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8364 ; - skos:exactMatch HGNC_symbol:H4C3 ; + skos:exactMatch UMLS:C1415447, + HGNC:4787, + HGNC_symbol:H4C3 ; biolink:category biolink:Gene . OMIM:602828 a owl:Class ; rdfs:label "HIST1H4H" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415448 ; oboInOwl:hasExactSynonym "HIST1H4H", "h4 histone family, member h", "h4/h", @@ -162913,14 +167794,15 @@ OMIM:602828 a owl:Class ; "histone gene cluster 1, h4h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8365 ; - skos:exactMatch HGNC_symbol:H4C8 ; + skos:exactMatch UMLS:C1415448, + HGNC:4788, + HGNC_symbol:H4C8 ; biolink:category biolink:Gene . OMIM:602829 a owl:Class ; rdfs:label "HIST1H4B" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415449 ; oboInOwl:hasExactSynonym "HIST1H4B", "h4 histone family, member 1", "h4/i", @@ -162929,14 +167811,15 @@ OMIM:602829 a owl:Class ; "histone gene cluster 1, h4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8366 ; - skos:exactMatch HGNC_symbol:H4C2 ; + skos:exactMatch UMLS:C1415449, + HGNC:4789, + HGNC_symbol:H4C2 ; biolink:category biolink:Gene . OMIM:602830 a owl:Class ; rdfs:label "HIST1H4E" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415450 ; oboInOwl:hasExactSynonym "HIST1H4E", "h4 histone family, member j", "hist1 cluster, h4e", @@ -162944,7 +167827,9 @@ OMIM:602830 a owl:Class ; "histone gene cluster 1, h4e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8367 ; - skos:exactMatch HGNC_symbol:H4C5 ; + skos:exactMatch UMLS:C1415450, + HGNC:4790, + HGNC_symbol:H4C5 ; biolink:category biolink:Gene . OMIM:602831 a owl:Class ; @@ -162952,7 +167837,6 @@ OMIM:602831 a owl:Class ; IAO:0000142 PMID:12408966, PMID:9031620, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415451 ; oboInOwl:hasExactSynonym "HIST1H4L", "h4 histone family, member k", "h4/k", @@ -162961,14 +167845,15 @@ OMIM:602831 a owl:Class ; "histone gene cluster 1, h4l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8368 ; - skos:exactMatch HGNC_symbol:H4C13 ; + skos:exactMatch UMLS:C1415451, + HGNC:4791, + HGNC_symbol:H4C13 ; biolink:category biolink:Gene . OMIM:602832 a owl:Class ; rdfs:label "HIST1H4G" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415452 ; oboInOwl:hasExactSynonym "HIST1H4G", "h4 histone family, member 50", "h4/l", @@ -162977,7 +167862,9 @@ OMIM:602832 a owl:Class ; "histone gene cluster 1, h4g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8369 ; - skos:exactMatch HGNC_symbol:H4C7 ; + skos:exactMatch UMLS:C1415452, + HGNC:4792, + HGNC_symbol:H4C7 ; biolink:category biolink:Gene . OMIM:602833 a owl:Class ; @@ -162985,8 +167872,6 @@ OMIM:602833 a owl:Class ; IAO:0000142 PMID:12408966, PMID:8988030, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415453, - UMLS:C1864437 ; oboInOwl:hasExactSynonym "HIST1H4I", "h4 histone family, member m", "h4fm/bcl6 fusion gene", @@ -162995,7 +167880,10 @@ OMIM:602833 a owl:Class ; "histone gene cluster 1, h4i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8294 ; - skos:exactMatch HGNC_symbol:H4C9 ; + skos:exactMatch UMLS:C1415453, + UMLS:C1864437, + HGNC:4793, + HGNC_symbol:H4C9 ; biolink:category biolink:Gene . OMIM:602834 a owl:Class ; @@ -163008,12 +167896,13 @@ OMIM:602835 a owl:Class ; PMID:1607387, PMID:3409319, PMID:9521882 ; - oboInOwl:hasDbXref UMLS:C1333659 ; oboInOwl:hasExactSynonym "GAS2", "growth arrest-specific 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2620 ; - skos:exactMatch HGNC_symbol:GAS2 ; + skos:exactMatch UMLS:C1333659, + HGNC:4167, + HGNC_symbol:GAS2 ; biolink:category biolink:Gene . OMIM:602836 a owl:Class ; @@ -163023,20 +167912,20 @@ OMIM:602836 a owl:Class ; PMID:16322791, PMID:21092862, PMID:9414125 ; - oboInOwl:hasDbXref UMLS:C1418214 ; oboInOwl:hasExactSynonym "P2RX5", "p2x5r", "purinergic receptor p2x, ligand-gated ion channel, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5026 ; - skos:exactMatch HGNC_symbol:P2RX5 ; + skos:exactMatch UMLS:C1418214, + HGNC:8536, + HGNC_symbol:P2RX5 ; biolink:category biolink:Gene . OMIM:602837 a owl:Class ; rdfs:label "DNAJA1" ; IAO:0000142 PMID:15660130, PMID:8334160 ; - oboInOwl:hasDbXref UMLS:C1415754 ; oboInOwl:hasExactSynonym "DNAJA1", "dja1", "dnaj/hsp40 homolog, subfamily a, member 1", @@ -163044,7 +167933,9 @@ OMIM:602837 a owl:Class ; "heat-shock protein, dnaj-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3301 ; - skos:exactMatch HGNC_symbol:DNAJA1 ; + skos:exactMatch UMLS:C1415754, + HGNC:5229, + HGNC_symbol:DNAJA1 ; biolink:category biolink:Gene . OMIM:602838 a owl:Class ; @@ -163052,12 +167943,13 @@ OMIM:602838 a owl:Class ; IAO:0000142 PMID:15928202, PMID:24055031, PMID:9144573 ; - oboInOwl:hasDbXref UMLS:C1418572 ; oboInOwl:hasExactSynonym "PIK3C2B", "phosphatidylinositol 3-kinase, class 2, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5287 ; - skos:exactMatch HGNC_symbol:PIK3C2B ; + skos:exactMatch UMLS:C1418572, + HGNC:8972, + HGNC_symbol:PIK3C2B ; biolink:category biolink:Gene . OMIM:602839 a owl:Class ; @@ -163077,7 +167969,6 @@ OMIM:602839 a owl:Class ; PMID:9455486 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:619281 ; - oboInOwl:hasDbXref UMLS:C1418575 ; oboInOwl:hasExactSynonym "PIK3CD", "p110-delta", "phosphatidylinositol 3-kinase, catalytic, 110-kd, delta", @@ -163086,7 +167977,9 @@ OMIM:602839 a owl:Class ; "pik3-delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5293 ; - skos:exactMatch HGNC_symbol:PIK3CD ; + skos:exactMatch UMLS:C1418575, + HGNC:8977, + HGNC_symbol:PIK3CD ; biolink:category biolink:Gene . OMIM:602840 a owl:Class ; @@ -163099,14 +167992,15 @@ OMIM:602840 a owl:Class ; PMID:8387892 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:618261 ; - oboInOwl:hasDbXref UMLS:C1824671 ; oboInOwl:hasExactSynonym "CD70", "cd27 ligand", "cd70 antigen", "tumor necrosis factor ligand superfamily, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:970 ; - skos:exactMatch HGNC_symbol:CD70 ; + skos:exactMatch UMLS:C1824671, + HGNC:11937, + HGNC_symbol:CD70 ; biolink:category biolink:Gene . OMIM:602841 a owl:Class ; @@ -163114,12 +168008,13 @@ OMIM:602841 a owl:Class ; IAO:0000142 PMID:7556219, PMID:7570184, PMID:8248161 ; - oboInOwl:hasDbXref UMLS:C1412433 ; oboInOwl:hasExactSynonym "AOX1", "aldehyde oxidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:316 ; - skos:exactMatch HGNC_symbol:AOX1 ; + skos:exactMatch UMLS:C1412433, + HGNC:553, + HGNC_symbol:AOX1 ; biolink:category biolink:Gene . OMIM:602842 a owl:Class ; @@ -163139,14 +168034,15 @@ OMIM:602842 a owl:Class ; PMID:9635433 ; RO:0002525 CHR:9606chr6p22.3 ; RO:0003303 OMIM:616835 ; - oboInOwl:hasDbXref UMLS:C1333683, - UMLS:C4225188 ; oboInOwl:hasExactSynonym "GMNN", "gem", "geminin DNA replication inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51053 ; - skos:exactMatch HGNC_symbol:GMNN ; + skos:exactMatch UMLS:C1333683, + UMLS:C4225188, + HGNC:17493, + HGNC_symbol:GMNN ; biolink:category biolink:Gene . OMIM:602843 a owl:Class ; @@ -163155,58 +168051,61 @@ OMIM:602843 a owl:Class ; PMID:8262133, PMID:8356058, PMID:8434008 ; - oboInOwl:hasDbXref UMLS:C1412526 ; oboInOwl:hasExactSynonym "ARHGDIB", "gdp-dissociation inhibitor d4", "lygdi", "rho gdp-dissociation inhibitor beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:397 ; - skos:exactMatch HGNC_symbol:ARHGDIB ; + skos:exactMatch UMLS:C1412526, + HGNC:679, + HGNC_symbol:ARHGDIB ; biolink:category biolink:Gene . OMIM:602844 a owl:Class ; rdfs:label "ARHGDIG" ; IAO:0000142 PMID:9113980 ; - oboInOwl:hasDbXref UMLS:C1412527 ; oboInOwl:hasExactSynonym "ARHGDIG", "rho gdp-dissociation inhibitor gamma", "rhogdi-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:398 ; - skos:exactMatch HGNC_symbol:ARHGDIG ; + skos:exactMatch UMLS:C1412527, + HGNC:680, + HGNC_symbol:ARHGDIG ; biolink:category biolink:Gene . OMIM:602845 a owl:Class ; rdfs:label "KIF3C" ; IAO:0000142 PMID:15479732, PMID:9446808 ; - oboInOwl:hasDbXref UMLS:C1416636 ; oboInOwl:hasExactSynonym "KIF3C", "kinesin family member 3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3797 ; - skos:exactMatch HGNC_symbol:KIF3C ; + skos:exactMatch UMLS:C1416636, + HGNC:6321, + HGNC_symbol:KIF3C ; biolink:category biolink:Gene . OMIM:602846 a owl:Class ; rdfs:label "UBE2K" ; IAO:0000142 PMID:8702625 ; - oboInOwl:hasDbXref UMLS:C1415547 ; oboInOwl:hasExactSynonym "UBE2K", "huntingtin-interacting protein 2", "ubiquitin-conjugating enzyme e2-25k", "ubiquitin-conjugating enzyme e2k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3093 ; - skos:exactMatch HGNC_symbol:UBE2K ; + skos:exactMatch UMLS:C1415547, + HGNC:4914, + HGNC_symbol:UBE2K ; biolink:category biolink:Gene . OMIM:602847 a owl:Class ; rdfs:label "HIST1H2BC" ; IAO:0000142 PMID:12408966, PMID:9119399 ; - oboInOwl:hasDbXref UMLS:C1415421 ; oboInOwl:hasExactSynonym "HIST1H2BC", "h2b histone family, member 50", "h2b/l", @@ -163215,7 +168114,9 @@ OMIM:602847 a owl:Class ; "histone gene cluster 1, h2bc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8347 ; - skos:exactMatch HGNC_symbol:H2BC4 ; + skos:exactMatch UMLS:C1415421, + HGNC:4757, + HGNC_symbol:H2BC4 ; biolink:category biolink:Gene . OMIM:602848 a owl:Class ; @@ -163223,14 +168124,15 @@ OMIM:602848 a owl:Class ; IAO:0000142 PMID:14966270, PMID:8611617, PMID:9368056 ; - oboInOwl:hasDbXref UMLS:C1426499 ; oboInOwl:hasExactSynonym "BRD8", "bromodomain-containing protein 8", "skeletal muscle abundant protein", "thyroid hormone receptor-interacting protein p120" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10902 ; - skos:exactMatch HGNC_symbol:BRD8 ; + skos:exactMatch UMLS:C1426499, + HGNC:19874, + HGNC_symbol:BRD8 ; biolink:category biolink:Gene . OMIM:602849 a owl:Class ; @@ -163252,10 +168154,10 @@ OMIM:602849 a owl:Class ; PMID:9525367, PMID:9580776, PMID:9950359 ; - oboInOwl:hasDbXref UMLS:C1864436 ; oboInOwl:hasExactSynonym "MNKES", "muenke nonsyndromic coronal craniosynostosis", "muenke syndrome" ; + skos:exactMatch UMLS:C1864436 ; biolink:category biolink:Disease . OMIM:602850 a owl:Class ; @@ -163263,12 +168165,13 @@ OMIM:602850 a owl:Class ; IAO:0000142 PMID:18408734, PMID:20696907, PMID:9479498 ; - oboInOwl:hasDbXref UMLS:C1419425 ; oboInOwl:hasExactSynonym "RNF4", "ring finger protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6047 ; - skos:exactMatch HGNC_symbol:RNF4 ; + skos:exactMatch UMLS:C1419425, + HGNC:10067, + HGNC_symbol:RNF4 ; biolink:category biolink:Gene . OMIM:602851 a owl:Class ; @@ -163290,7 +168193,6 @@ OMIM:602851 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr5q14.3 ; RO:0003303 OMIM:605472 ; - oboInOwl:hasDbXref UMLS:C1424958 ; oboInOwl:hasExactSynonym "ADGRV1", "adhesion g protein-coupled receptor v1", "g protein-coupled receptor 98", @@ -163299,14 +168201,15 @@ OMIM:602851 a owl:Class ; "very large g protein-coupled receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84059 ; - skos:exactMatch HGNC_symbol:ADGRV1 ; + skos:exactMatch UMLS:C1424958, + HGNC:17416, + HGNC_symbol:ADGRV1 ; biolink:category biolink:Gene . OMIM:602852 a owl:Class ; rdfs:label "NUDT2" ; IAO:0000142 PMID:7487923, PMID:9479504 ; - oboInOwl:hasDbXref UMLS:C1417880 ; oboInOwl:hasExactSynonym "NUDT2", "ap4a hydrolase 1", "nucleoside diphosphate-linked moiety 10 motif 2", @@ -163314,19 +168217,22 @@ OMIM:602852 a owl:Class ; "nudix motif 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:318 ; - skos:exactMatch HGNC_symbol:NUDT2 ; + skos:exactMatch UMLS:C1417880, + HGNC:8049, + HGNC_symbol:NUDT2 ; biolink:category biolink:Gene . OMIM:602853 a owl:Class ; rdfs:label "PTPRR" ; IAO:0000142 PMID:7557444 ; - oboInOwl:hasDbXref UMLS:C1419123 ; oboInOwl:hasExactSynonym "PTPRR", "pc12 protein-tyrosine phosphatase", "protein-tyrosine phosphatase, receptor-type, r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5801 ; - skos:exactMatch HGNC_symbol:PTPRR ; + skos:exactMatch UMLS:C1419123, + HGNC:9680, + HGNC_symbol:PTPRR ; biolink:category biolink:Gene . OMIM:602854 a owl:Class ; @@ -163334,7 +168240,6 @@ OMIM:602854 a owl:Class ; IAO:0000142 PMID:1888762, PMID:7681138, PMID:8811196 ; - oboInOwl:hasDbXref UMLS:C1419003 ; oboInOwl:hasExactSynonym "PSMA1", "hc2", "pros30", @@ -163342,7 +168247,9 @@ OMIM:602854 a owl:Class ; "proteasome subunit, alpha-type, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5682 ; - skos:exactMatch HGNC_symbol:PSMA1 ; + skos:exactMatch UMLS:C1419003, + HGNC:9530, + HGNC_symbol:PSMA1 ; biolink:category biolink:Gene . OMIM:602855 a owl:Class ; @@ -163354,7 +168261,6 @@ OMIM:602855 a owl:Class ; PMID:8811196 ; RO:0002525 CHR:9606chr14q13.2 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1419008 ; oboInOwl:hasExactSynonym "PSMA6", "p27k", "pros27", @@ -163362,7 +168268,9 @@ OMIM:602855 a owl:Class ; "proteasome subunit, alpha-type, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5687 ; - skos:exactMatch HGNC_symbol:PSMA6 ; + skos:exactMatch UMLS:C1419008, + HGNC:9535, + HGNC_symbol:PSMA6 ; biolink:category biolink:Gene . OMIM:602856 a owl:Class ; @@ -163371,12 +168279,13 @@ OMIM:602856 a owl:Class ; PMID:17626792, PMID:21705617, PMID:8774883 ; - oboInOwl:hasDbXref UMLS:C1419368 ; oboInOwl:hasExactSynonym "RGS10", "regulator of g protein signaling 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6001 ; - skos:exactMatch HGNC_symbol:RGS10 ; + skos:exactMatch UMLS:C1419368, + HGNC:9992, + HGNC_symbol:RGS10 ; biolink:category biolink:Gene . OMIM:602858 a owl:Class ; @@ -163414,13 +168323,14 @@ OMIM:602858 a owl:Class ; PMID:9714007 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:270400 ; - oboInOwl:hasDbXref UMLS:C1414040 ; oboInOwl:hasExactSynonym "7-dehydrocholesterol reductase", "DHCR7", "sterol delta-7-reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1717 ; - skos:exactMatch HGNC_symbol:DHCR7 ; + skos:exactMatch UMLS:C1414040, + HGNC:2860, + HGNC_symbol:DHCR7 ; biolink:category biolink:Gene . OMIM:602859 a owl:Class ; @@ -163436,13 +168346,14 @@ OMIM:602859 a owl:Class ; PMID:9700193 ; RO:0002525 CHR:9606chr1p36.32 ; RO:0003303 OMIM:614871 ; - oboInOwl:hasDbXref UMLS:C1418470 ; oboInOwl:hasExactSynonym "PEX10", "peroxin 10", "peroxisome biogenesis factor 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5192 ; - skos:exactMatch HGNC_symbol:PEX10 ; + skos:exactMatch UMLS:C1418470, + HGNC:8851, + HGNC_symbol:PEX10 ; biolink:category biolink:Gene . OMIM:602860 a owl:Class ; @@ -163464,7 +168375,6 @@ OMIM:602860 a owl:Class ; PMID:9916837 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:176430 ; - oboInOwl:hasDbXref UMLS:C1412854 ; oboInOwl:hasExactSynonym "BUB1B", "bub1 mitotic checkpoint serine/threonine kinase B", "bubr1", @@ -163472,7 +168382,9 @@ OMIM:602860 a owl:Class ; "mitotic checkpoint gene bub1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:701 ; - skos:exactMatch HGNC_symbol:BUB1B ; + skos:exactMatch UMLS:C1412854, + HGNC:1149, + HGNC_symbol:BUB1B ; biolink:category biolink:Gene . OMIM:602861 a owl:Class ; @@ -163488,27 +168400,29 @@ OMIM:602861 a owl:Class ; PMID:9721216 ; RO:0002525 CHR:9606chr12p11.21 ; RO:0003303 OMIM:609040 ; - oboInOwl:hasDbXref UMLS:C1418613, - UMLS:C1836906 ; oboInOwl:hasExactSynonym "PKP2", "plakophilin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5318 ; - skos:exactMatch HGNC_symbol:PKP2 ; + skos:exactMatch UMLS:C1418613, + UMLS:C1836906, + HGNC:9024, + HGNC_symbol:PKP2 ; biolink:category biolink:Gene . OMIM:602862 a owl:Class ; rdfs:label "UAP1" ; IAO:0000142 PMID:8025165, PMID:9603950 ; - oboInOwl:hasDbXref UMLS:C1421256 ; oboInOwl:hasExactSynonym "UAP1", "antigen 10", "sperm-associated antigen 2", "udp-n-acetylglucosamine pyrophosphorylase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6675 ; - skos:exactMatch HGNC_symbol:UAP1 ; + skos:exactMatch UMLS:C1421256, + HGNC:12457, + HGNC_symbol:UAP1 ; biolink:category biolink:Gene . OMIM:602863 a owl:Class ; @@ -163517,13 +168431,14 @@ OMIM:602863 a owl:Class ; PMID:11414706, PMID:15371327, PMID:9441749 ; - oboInOwl:hasDbXref UMLS:C1421513 ; oboInOwl:hasExactSynonym "WNT9A", "wingless-type mmtv integration site family, member 14", "wingless-type mmtv integration site family, member 9a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7483 ; - skos:exactMatch HGNC_symbol:WNT9A ; + skos:exactMatch UMLS:C1421513, + HGNC:12778, + HGNC_symbol:WNT9A ; biolink:category biolink:Gene . OMIM:602864 a owl:Class ; @@ -163532,13 +168447,14 @@ OMIM:602864 a owl:Class ; PMID:16054034, PMID:19543268, PMID:9441749 ; - oboInOwl:hasDbXref UMLS:C1421514 ; oboInOwl:hasExactSynonym "WNT9B", "wingless-type mmtv integration site family, member 15", "wingless-type mmtv integration site family, member 9b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7484 ; - skos:exactMatch HGNC_symbol:WNT9B ; + skos:exactMatch UMLS:C1421514, + HGNC:12779, + HGNC_symbol:WNT9B ; biolink:category biolink:Gene . OMIM:602865 a owl:Class ; @@ -163548,14 +168464,15 @@ OMIM:602865 a owl:Class ; PMID:15746151, PMID:9175739, PMID:9545632 ; - oboInOwl:hasDbXref UMLS:C1413915 ; oboInOwl:hasExactSynonym "BRINP1", "bone morphogenetic protein/retinoic acid-inducible neural-specific protein 1", "deleted 1n bladder cancer 1", "deleted 1n bladder cancer chromosome region candidate 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1620 ; - skos:exactMatch HGNC_symbol:BRINP1 ; + skos:exactMatch UMLS:C1413915, + HGNC:2687, + HGNC_symbol:BRINP1 ; biolink:category biolink:Gene . OMIM:602866 a owl:Class ; @@ -163572,7 +168489,6 @@ OMIM:602866 a owl:Class ; PMID:23034652, PMID:9037075, PMID:9062189 ; - oboInOwl:hasDbXref UMLS:C1412115 ; oboInOwl:hasExactSynonym "ASIC1", "acid-sensing ion channel, subunit 1", "asic", @@ -163580,7 +168496,9 @@ OMIM:602866 a owl:Class ; "cation channel, amiloride-sensitive, neuronal, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:41 ; - skos:exactMatch HGNC_symbol:ASIC1 ; + skos:exactMatch UMLS:C1412115, + HGNC:100, + HGNC_symbol:ASIC1 ; biolink:category biolink:Gene . OMIM:602867 a owl:Class ; @@ -163597,7 +168515,6 @@ OMIM:602867 a owl:Class ; PMID:9371786 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:614224 ; - oboInOwl:hasDbXref UMLS:C1415932 ; oboInOwl:hasExactSynonym "IGFBP7", "angiomodulin", "igf-binding protein-related protein 1", @@ -163606,7 +168523,9 @@ OMIM:602867 a owl:Class ; "prostacyclin-stimulating factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3490 ; - skos:exactMatch HGNC_symbol:IGFBP7 ; + skos:exactMatch UMLS:C1415932, + HGNC:5476, + HGNC_symbol:IGFBP7 ; biolink:category biolink:Gene . OMIM:602868 a owl:Class ; @@ -163620,14 +168539,15 @@ OMIM:602868 a owl:Class ; PMID:9038199, PMID:9598309, PMID:9632794 ; - oboInOwl:hasDbXref UMLS:C1413267 ; oboInOwl:hasExactSynonym "CDC5L", "cdc5-like", "cell division cycle 5, s. pombe, homolog of", "cell division cycle 5-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:988 ; - skos:exactMatch HGNC_symbol:CDC5L ; + skos:exactMatch UMLS:C1413267, + HGNC:1743, + HGNC_symbol:CDC5L ; biolink:category biolink:Gene . OMIM:602869 a owl:Class ; @@ -163643,15 +168563,16 @@ OMIM:602869 a owl:Class ; PMID:7509195 ; RO:0002525 CHR:9606chr1q44 ; RO:0003303 OMIM:617391 ; - oboInOwl:hasDbXref UMLS:C1415649, - UMLS:C4479319 ; oboInOwl:hasExactSynonym "HNRNPU", "heterogeneous nuclear ribonucleoprotein u", "hnrpu", "scaffold attachment factor a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3192 ; - skos:exactMatch HGNC_symbol:HNRNPU ; + skos:exactMatch UMLS:C1415649, + UMLS:C4479319, + HGNC:5048, + HGNC_symbol:HNRNPU ; biolink:category biolink:Gene . OMIM:602870 a owl:Class ; @@ -163663,13 +168584,14 @@ OMIM:602870 a owl:Class ; PMID:9719369 ; RO:0002525 CHR:9606chr6q14.1 ; RO:0003303 OMIM:153870 ; - oboInOwl:hasDbXref UMLS:C1416430 ; oboInOwl:hasExactSynonym "IMPG1", "interphotoreceptor matrix proteoglycan 1", "interphotoreceptor matrix proteoglycan 150" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3617 ; - skos:exactMatch HGNC_symbol:IMPG1 ; + skos:exactMatch UMLS:C1416430, + HGNC:6055, + HGNC_symbol:IMPG1 ; biolink:category biolink:Gene . OMIM:602871 a owl:Class ; @@ -163680,25 +168602,27 @@ OMIM:602871 a owl:Class ; PMID:9412476, PMID:9521878, PMID:9570964 ; - oboInOwl:hasDbXref UMLS:C1418813 ; oboInOwl:hasExactSynonym "PPL", "periplakin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5493 ; - skos:exactMatch HGNC_symbol:PPL ; + skos:exactMatch UMLS:C1418813, + HGNC:9273, + HGNC_symbol:PPL ; biolink:category biolink:Gene . OMIM:602872 a owl:Class ; rdfs:label "CLIC1" ; IAO:0000142 PMID:18028448, PMID:9139710 ; - oboInOwl:hasDbXref UMLS:C1413484 ; oboInOwl:hasExactSynonym "CLIC1", "chloride intracellular channel 1", "ncc27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1192 ; - skos:exactMatch HGNC_symbol:CLIC1 ; + skos:exactMatch UMLS:C1413484, + HGNC:2062, + HGNC_symbol:CLIC1 ; biolink:category biolink:Gene . OMIM:602873 a owl:Class ; @@ -163706,12 +168630,13 @@ OMIM:602873 a owl:Class ; IAO:0000142 PMID:28611399, PMID:9295142, PMID:9339382 ; - oboInOwl:hasDbXref UMLS:C1417841 ; oboInOwl:hasExactSynonym "NRAP", "nebulin-related anchoring protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4892 ; - skos:exactMatch HGNC_symbol:NRAP ; + skos:exactMatch UMLS:C1417841, + HGNC:7988, + HGNC_symbol:NRAP ; biolink:category biolink:Gene . OMIM:602874 a owl:Class ; @@ -163721,14 +168646,15 @@ OMIM:602874 a owl:Class ; PMID:9545298, PMID:9605861, PMID:9925912 ; - oboInOwl:hasDbXref UMLS:C1421319 ; oboInOwl:hasExactSynonym "UGCG", "ceramide glucosyltransferase", "glucosylceramide synthase", "udp-glucose ceramide glucosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7357 ; - skos:exactMatch HGNC_symbol:UGCG ; + skos:exactMatch UMLS:C1421319, + HGNC:12524, + HGNC_symbol:UGCG ; biolink:category biolink:Gene . OMIM:602875 a owl:Class ; @@ -163743,12 +168669,12 @@ OMIM:602875 a owl:Class ; PMID:8281387, PMID:9634515, PMID:964999 ; - oboInOwl:hasDbXref UMLS:C1864356 ; oboInOwl:hasExactSynonym "AMD1", "acromesomelic dysplasia 1", "acromesomelic dysplasia, maroteaux iia", "st. helena dysplasia" ; rdfs:subClassOf OMIMPS:602875 ; + skos:exactMatch UMLS:C1864356 ; biolink:category biolink:Disease . OMIM:602876 a owl:Class ; @@ -163765,12 +168691,13 @@ OMIM:602876 a owl:Class ; PMID:8601611 ; RO:0002525 CHR:9606chr5q13.2 ; RO:0003303 OMIM:251290 ; - oboInOwl:hasDbXref UMLS:C1417928 ; oboInOwl:hasExactSynonym "OCLN", "occludin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506658 ; - skos:exactMatch HGNC_symbol:OCLN ; + skos:exactMatch UMLS:C1417928, + HGNC:8104, + HGNC_symbol:OCLN ; biolink:category biolink:Gene . OMIM:602877 a owl:Class ; @@ -163778,26 +168705,28 @@ OMIM:602877 a owl:Class ; IAO:0000142 PMID:26168397, PMID:7498485, PMID:7670491 ; - oboInOwl:hasDbXref UMLS:C1418832 ; oboInOwl:hasExactSynonym "PPP1R7", "protein phosphatase 1, regulatory subunit 7", "sds22, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5510 ; - skos:exactMatch HGNC_symbol:PPP1R7 ; + skos:exactMatch UMLS:C1418832, + HGNC:9295, + HGNC_symbol:PPP1R7 ; biolink:category biolink:Gene . OMIM:602878 a owl:Class ; rdfs:label "SLC30A3" ; IAO:0000142 PMID:15154973, PMID:8962159 ; - oboInOwl:hasDbXref UMLS:C1420180 ; oboInOwl:hasExactSynonym "SLC30A3", "solute carrier family 30 (zinc transporter), member 3", "zinc transporter 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7781 ; - skos:exactMatch HGNC_symbol:SLC30A3 ; + skos:exactMatch UMLS:C1420180, + HGNC:11014, + HGNC_symbol:SLC30A3 ; biolink:category biolink:Gene . OMIM:602879 a owl:Class ; @@ -163809,13 +168738,14 @@ OMIM:602879 a owl:Class ; PMID:9570967 ; RO:0002525 CHR:9606chr20q11.23 ; RO:0003303 OMIM:614257 ; - oboInOwl:hasDbXref UMLS:C1414423 ; oboInOwl:hasExactSynonym "EPB41L1", "erythrocyte membrane protein band 4.1-like 1", "nonerythroid protein 4.1, neuron iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2036 ; - skos:exactMatch HGNC_symbol:EPB41L1 ; + skos:exactMatch UMLS:C1414423, + HGNC:3378, + HGNC_symbol:EPB41L1 ; biolink:category biolink:Gene . OMIM:602880 a owl:Class ; @@ -163831,30 +168761,32 @@ OMIM:602880 a owl:Class ; PMID:28991257 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:208530 ; - oboInOwl:hasDbXref UMLS:C0013069, - UMLS:C0039685, - UMLS:C0040761, - UMLS:C1415031, - UMLS:C3151221, - UMLS:C3178806 ; oboInOwl:hasExactSynonym "GDF1", "growth/differentiation factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2657 ; - skos:exactMatch HGNC_symbol:GDF1 ; + skos:exactMatch UMLS:C0013069, + UMLS:C0039685, + UMLS:C0040761, + UMLS:C1415031, + UMLS:C3151221, + UMLS:C3178806, + HGNC:4214, + HGNC_symbol:GDF1 ; biolink:category biolink:Gene . OMIM:602881 a owl:Class ; rdfs:label "PHF1" ; IAO:0000142 PMID:9545646 ; - oboInOwl:hasDbXref UMLS:C1418527 ; oboInOwl:hasExactSynonym "PHF1", "pcl, drosophila, homolog of, 1", "phd finger protein 1", "polycomblike, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5252 ; - skos:exactMatch HGNC_symbol:PHF1 ; + skos:exactMatch UMLS:C1418527, + HGNC:8919, + HGNC_symbol:PHF1 ; biolink:category biolink:Gene . OMIM:602882 a owl:Class ; @@ -163864,19 +168796,19 @@ OMIM:602882 a owl:Class ; PMID:9524238, PMID:9545637, PMID:9714793 ; - oboInOwl:hasDbXref UMLS:C1416824 ; oboInOwl:hasExactSynonym "LECT2", "leukocyte cell-derived chemotaxin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3950 ; - skos:exactMatch HGNC_symbol:LECT2 ; + skos:exactMatch UMLS:C1416824, + HGNC:6550, + HGNC_symbol:LECT2 ; biolink:category biolink:Gene . OMIM:602883 a owl:Class ; rdfs:label "SLCO1A2" ; IAO:0000142 PMID:7557095, PMID:9007731 ; - oboInOwl:hasDbXref UMLS:C1420130 ; oboInOwl:hasExactSynonym "SLCO1A2", "organic anion transporter 1a2", "organic anion transporter a", @@ -163884,7 +168816,9 @@ OMIM:602883 a owl:Class ; "solute carrier organic anion transporter family, member 1a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6579 ; - skos:exactMatch HGNC_symbol:SLCO1A2 ; + skos:exactMatch UMLS:C1420130, + HGNC:10956, + HGNC_symbol:SLCO1A2 ; biolink:category biolink:Gene . OMIM:602884 a owl:Class ; @@ -163892,38 +168826,41 @@ OMIM:602884 a owl:Class ; IAO:0000142 PMID:19668217, PMID:9525924, PMID:9603974 ; - oboInOwl:hasDbXref UMLS:C1415129 ; oboInOwl:hasExactSynonym "GMDS", "gdp-mannose 4,6-dehydratase", "gmd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2762 ; - skos:exactMatch HGNC_symbol:GMDS ; + skos:exactMatch UMLS:C1415129, + HGNC:4369, + HGNC_symbol:GMDS ; biolink:category biolink:Gene . OMIM:602885 a owl:Class ; rdfs:label "MLNR" ; IAO:0000142 PMID:10381885, PMID:9441746 ; - oboInOwl:hasDbXref UMLS:C1537925 ; oboInOwl:hasExactSynonym "MLNR", "g protein-coupled receptor 38", "motilin receptor", "motilin receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2862 ; - skos:exactMatch HGNC_symbol:MLNR ; + skos:exactMatch UMLS:C1537925, + HGNC:4495, + HGNC_symbol:MLNR ; biolink:category biolink:Gene . OMIM:602886 a owl:Class ; rdfs:label "GPR39" ; IAO:0000142 PMID:9441746 ; - oboInOwl:hasDbXref UMLS:C1333694 ; oboInOwl:hasExactSynonym "GPR39", "g protein-coupled receptor 39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2863 ; - skos:exactMatch HGNC_symbol:GPR39 ; + skos:exactMatch UMLS:C1333694, + HGNC:4496, + HGNC_symbol:GPR39 ; biolink:category biolink:Gene . OMIM:602887 a owl:Class ; @@ -163956,8 +168893,6 @@ OMIM:602887 a owl:Class ; PMID:9853749 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:618793 ; - oboInOwl:hasDbXref UMLS:C1333226, - UMLS:C5394083 ; oboInOwl:hasExactSynonym "DLG4", "discs large maguk scaffold protein 4", "discs large, drosophila, homolog of, 4", @@ -163965,7 +168900,10 @@ OMIM:602887 a owl:Class ; "synapse-associated protein 90" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1742 ; - skos:exactMatch HGNC_symbol:DLG4 ; + skos:exactMatch UMLS:C1333226, + UMLS:C5394083, + HGNC:2903, + HGNC_symbol:DLG4 ; biolink:category biolink:Gene . OMIM:602888 a owl:Class ; @@ -163974,12 +168912,13 @@ OMIM:602888 a owl:Class ; PMID:18230605, PMID:18457970, PMID:8798461 ; - oboInOwl:hasDbXref UMLS:C1412794 ; oboInOwl:hasExactSynonym "BHMT", "betaine-homocysteine methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:635 ; - skos:exactMatch HGNC_symbol:BHMT ; + skos:exactMatch UMLS:C1412794, + HGNC:1047, + HGNC_symbol:BHMT ; biolink:category biolink:Gene . OMIM:602889 a owl:Class ; @@ -163991,7 +168930,6 @@ OMIM:602890 a owl:Class ; IAO:0000142 PMID:19273624, PMID:8077657, PMID:9218532 ; - oboInOwl:hasDbXref UMLS:C1334310 ; oboInOwl:hasExactSynonym "KLRB1", "cd161", "killer cell lectin-like receptor, subfamily b, member 1", @@ -163999,7 +168937,9 @@ OMIM:602890 a owl:Class ; "nkrp1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3820 ; - skos:exactMatch HGNC_symbol:KLRB1 ; + skos:exactMatch UMLS:C1334310, + HGNC:6373, + HGNC_symbol:KLRB1 ; biolink:category biolink:Gene . OMIM:602891 a owl:Class ; @@ -164009,13 +168949,14 @@ OMIM:602891 a owl:Class ; PMID:9486650, PMID:9598306, PMID:9683661 ; - oboInOwl:hasDbXref UMLS:C1416683 ; oboInOwl:hasExactSynonym "KLRC2", "killer cell lectin-like receptor, subfamily c, member 2", "nkg2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3822 ; - skos:exactMatch HGNC_symbol:KLRC2 ; + skos:exactMatch UMLS:C1416683, + HGNC:6375, + HGNC_symbol:KLRC2 ; biolink:category biolink:Gene . OMIM:602892 a owl:Class ; @@ -164023,13 +168964,14 @@ OMIM:602892 a owl:Class ; IAO:0000142 PMID:8276468, PMID:9598306, PMID:9683661 ; - oboInOwl:hasDbXref UMLS:C1416684 ; oboInOwl:hasExactSynonym "KLRC3", "killer cell lectin-like receptor, subfamily c, member 3", "nkg2e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3823 ; - skos:exactMatch HGNC_symbol:KLRC3 ; + skos:exactMatch UMLS:C1416684, + HGNC:6376, + HGNC_symbol:KLRC3 ; biolink:category biolink:Gene . OMIM:602893 a owl:Class ; @@ -164038,13 +168980,14 @@ OMIM:602893 a owl:Class ; PMID:9394807, PMID:9598306, PMID:9683661 ; - oboInOwl:hasDbXref UMLS:C1416685 ; oboInOwl:hasExactSynonym "KLRC4", "killer cell lectin-like receptor, subfamily c, member 4", "nkg2f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8302 ; - skos:exactMatch HGNC_symbol:KLRC4 ; + skos:exactMatch UMLS:C1416685, + HGNC:6377, + HGNC_symbol:KLRC4 ; biolink:category biolink:Gene . OMIM:602894 a owl:Class ; @@ -164054,13 +168997,14 @@ OMIM:602894 a owl:Class ; PMID:9472066, PMID:9486650, PMID:9598306 ; - oboInOwl:hasDbXref UMLS:C1334311 ; oboInOwl:hasExactSynonym "KLRD1", "cd94 antigen", "killer cell lectin-like receptor, subfamily d, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3824 ; - skos:exactMatch HGNC_symbol:KLRD1 ; + skos:exactMatch UMLS:C1334311, + HGNC:6378, + HGNC_symbol:KLRD1 ; biolink:category biolink:Gene . OMIM:602895 a owl:Class ; @@ -164070,14 +169014,15 @@ OMIM:602895 a owl:Class ; PMID:8600450, PMID:9328833, PMID:9605873 ; - oboInOwl:hasDbXref UMLS:C1335803 ; oboInOwl:hasExactSynonym "SAFB", "hsp27 estrogen response element- and tata box-binding protein", "safb1", "scaffold attachment factor B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6294 ; - skos:exactMatch HGNC_symbol:SAFB ; + skos:exactMatch UMLS:C1335803, + HGNC:10520, + HGNC_symbol:SAFB ; biolink:category biolink:Gene . OMIM:602896 a owl:Class ; @@ -164100,14 +169045,15 @@ OMIM:602896 a owl:Class ; PMID:8654373, PMID:9732264, PMID:9806643 ; - oboInOwl:hasDbXref UMLS:C1334482 ; oboInOwl:hasExactSynonym "MAPK9", "c-jun kinase 2", "mitogen-activated protein kinase 9", "protein kinase, mitogen-activated, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5601 ; - skos:exactMatch HGNC_symbol:MAPK9 ; + skos:exactMatch UMLS:C1334482, + HGNC:6886, + HGNC_symbol:MAPK9 ; biolink:category biolink:Gene . OMIM:602897 a owl:Class ; @@ -164121,14 +169067,15 @@ OMIM:602897 a owl:Class ; PMID:7826642, PMID:8654373, PMID:9349820 ; - oboInOwl:hasDbXref UMLS:C1334478 ; oboInOwl:hasExactSynonym "MAPK10", "c-jun kinase 3", "mitogen-activated protein kinase 10", "protein kinase, mitogen-activated, 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5602 ; - skos:exactMatch HGNC_symbol:MAPK10 ; + skos:exactMatch UMLS:C1334478, + HGNC:6872, + HGNC_symbol:MAPK10 ; biolink:category biolink:Gene . OMIM:602898 a owl:Class ; @@ -164136,7 +169083,6 @@ OMIM:602898 a owl:Class ; IAO:0000142 PMID:8663524, PMID:9235954, PMID:9430721 ; - oboInOwl:hasDbXref UMLS:C1366875 ; oboInOwl:hasExactSynonym "MAPK11", "mitogen-activated protein kinase 11", "p38-2", @@ -164146,7 +169092,9 @@ OMIM:602898 a owl:Class ; "stress-activated protein kinase 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5600 ; - skos:exactMatch HGNC_symbol:MAPK11 ; + skos:exactMatch UMLS:C1366875, + HGNC:6873, + HGNC_symbol:MAPK11 ; biolink:category biolink:Gene . OMIM:602899 a owl:Class ; @@ -164154,7 +169102,6 @@ OMIM:602899 a owl:Class ; IAO:0000142 PMID:9207191, PMID:9218798, PMID:9295308 ; - oboInOwl:hasDbXref UMLS:C1366898 ; oboInOwl:hasExactSynonym "MAPK13", "mitogen-activated protein kinase 13", "p38-delta", @@ -164162,7 +169109,9 @@ OMIM:602899 a owl:Class ; "stress-activated protein kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5603 ; - skos:exactMatch HGNC_symbol:MAPK13 ; + skos:exactMatch UMLS:C1366898, + HGNC:6875, + HGNC_symbol:MAPK13 ; biolink:category biolink:Gene . OMIM:602900 a owl:Class ; @@ -164205,12 +169154,13 @@ OMIM:602900 a owl:Class ; PMID:9718351 ; RO:0002525 CHR:9606chr20q11.21 ; RO:0003303 OMIM:242860 ; - oboInOwl:hasDbXref UMLS:C1333242 ; oboInOwl:hasExactSynonym "DNA methyltransferase 3b", "DNMT3B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1789 ; - skos:exactMatch HGNC_symbol:DNMT3B ; + skos:exactMatch UMLS:C1333242, + HGNC:2979, + HGNC_symbol:DNMT3B ; biolink:category biolink:Gene . OMIM:602901 a owl:Class ; @@ -164219,7 +169169,6 @@ OMIM:602901 a owl:Class ; PMID:8521471, PMID:8808633, PMID:9144189 ; - oboInOwl:hasDbXref UMLS:C1416706 ; oboInOwl:hasExactSynonym "TNPO1", "importin beta-2", "karyopherin beta-2", @@ -164228,7 +169177,9 @@ OMIM:602901 a owl:Class ; "transportin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3842 ; - skos:exactMatch HGNC_symbol:TNPO1 ; + skos:exactMatch UMLS:C1416706, + HGNC:6401, + HGNC_symbol:TNPO1 ; biolink:category biolink:Gene . OMIM:602902 a owl:Class ; @@ -164239,14 +169190,15 @@ OMIM:602902 a owl:Class ; PMID:19343044, PMID:8291025, PMID:9858544 ; - oboInOwl:hasDbXref UMLS:C1537487 ; oboInOwl:hasExactSynonym "KLF9", "basic transcription element-binding protein 1", "bteb", "kruppel-like factor 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:687 ; - skos:exactMatch HGNC_symbol:KLF9 ; + skos:exactMatch UMLS:C1537487, + HGNC:1123, + HGNC_symbol:KLF9 ; biolink:category biolink:Gene . OMIM:602903 a owl:Class ; @@ -164256,13 +169208,14 @@ OMIM:602903 a owl:Class ; PMID:16054042, PMID:18500350, PMID:8479902 ; - oboInOwl:hasDbXref UMLS:C1416661 ; oboInOwl:hasExactSynonym "KLF5", "basic transcription element-binding protein 2", "kruppel-like factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:688 ; - skos:exactMatch HGNC_symbol:KLF5 ; + skos:exactMatch UMLS:C1416661, + HGNC:6349, + HGNC_symbol:KLF5 ; biolink:category biolink:Gene . OMIM:602904 a owl:Class ; @@ -164271,7 +169224,6 @@ OMIM:602904 a owl:Class ; PMID:25521218, PMID:7969157, PMID:8875998 ; - oboInOwl:hasDbXref UMLS:C1334480 ; oboInOwl:hasExactSynonym "MAPK6", "extracellular signal-regulated kinase 3", "mitogen-activated protein kinase 6", @@ -164279,32 +169231,36 @@ OMIM:602904 a owl:Class ; "protein kinase, mitogen-activated, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5597 ; - skos:exactMatch HGNC_symbol:MAPK6 ; + skos:exactMatch UMLS:C1334480, + HGNC:6879, + HGNC_symbol:MAPK6 ; biolink:category biolink:Gene . OMIM:602905 a owl:Class ; rdfs:label "KCNS1" ; IAO:0000142 PMID:9305895 ; - oboInOwl:hasDbXref UMLS:C1416618 ; oboInOwl:hasExactSynonym "KCNS1", "potassium channel, voltage-gated, delayed-rectifier, subfamily s, member 1", "voltage-gated potassium channel 9.1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3787 ; - skos:exactMatch HGNC_symbol:KCNS1 ; + skos:exactMatch UMLS:C1416618, + HGNC:6300, + HGNC_symbol:KCNS1 ; biolink:category biolink:Gene . OMIM:602906 a owl:Class ; rdfs:label "KCNS2" ; IAO:0000142 PMID:8640222, PMID:9305895 ; - oboInOwl:hasDbXref UMLS:C1416619 ; oboInOwl:hasExactSynonym "KCNS2", "potassium channel, voltage-gated, delayed-rectifier, subfamily s, member 2", "voltage-gated potassium channel 9.2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3788 ; - skos:exactMatch HGNC_symbol:KCNS2 ; + skos:exactMatch UMLS:C1416619, + HGNC:6301, + HGNC_symbol:KCNS2 ; biolink:category biolink:Gene . OMIM:602907 a owl:Class ; @@ -164312,13 +169268,14 @@ OMIM:602907 a owl:Class ; IAO:0000142 PMID:30647131, PMID:9004043, PMID:9256449 ; - oboInOwl:hasDbXref UMLS:C1413352 ; oboInOwl:hasExactSynonym "CETN3", "cdc31, s. cerevisiae, homolog of", "centrin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1070 ; - skos:exactMatch HGNC_symbol:CETN3 ; + skos:exactMatch UMLS:C1413352, + HGNC:1868, + HGNC_symbol:CETN3 ; biolink:category biolink:Gene . OMIM:602908 a owl:Class ; @@ -164331,14 +169288,15 @@ OMIM:602908 a owl:Class ; PMID:2856251, PMID:3388033, PMID:9697699 ; - oboInOwl:hasDbXref UMLS:C1419294 ; oboInOwl:hasExactSynonym "RBBP9", "b5t overexpressed gene", "rbbp10", "retinoblastoma-binding protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10741 ; - skos:exactMatch HGNC_symbol:RBBP9 ; + skos:exactMatch UMLS:C1419294, + HGNC:9892, + HGNC_symbol:RBBP9 ; biolink:category biolink:Gene . OMIM:602909 a owl:Class ; @@ -164351,7 +169309,6 @@ OMIM:602909 a owl:Class ; PMID:9334247, PMID:9878248, PMID:9892664 ; - oboInOwl:hasDbXref UMLS:C1413474 ; oboInOwl:hasExactSynonym "CLDN4", "claudin 4", "clostridium perfringens enterotoxin receptor 1", @@ -164360,7 +169317,9 @@ OMIM:602909 a owl:Class ; "enterotoxin of clostridium perfringens, receptor of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1364 ; - skos:exactMatch HGNC_symbol:CLDN4 ; + skos:exactMatch UMLS:C1413474, + HGNC:2046, + HGNC_symbol:CLDN4 ; biolink:category biolink:Gene . OMIM:602910 a owl:Class ; @@ -164375,7 +169334,6 @@ OMIM:602910 a owl:Class ; PMID:9647647, PMID:9878248, PMID:9892664 ; - oboInOwl:hasDbXref UMLS:C1413473 ; oboInOwl:hasExactSynonym "CLDN3", "claudin 3", "clostridium perfringens enterotoxin receptor 2", @@ -164385,7 +169343,9 @@ OMIM:602910 a owl:Class ; "ventral prostate 1, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1365 ; - skos:exactMatch HGNC_symbol:CLDN3 ; + skos:exactMatch UMLS:C1413473, + HGNC:2045, + HGNC_symbol:CLDN3 ; biolink:category biolink:Gene . OMIM:602911 a owl:Class ; @@ -164405,7 +169365,6 @@ OMIM:602911 a owl:Class ; PMID:9697694 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:614256 ; - oboInOwl:hasDbXref UMLS:C1413072 ; oboInOwl:hasExactSynonym "CACNG2", "calcium channel, voltage-dependent, gamma-2 subunit", "stargazin, mouse, homolog of", @@ -164413,7 +169372,9 @@ OMIM:602911 a owl:Class ; "transmembrane ampa receptor regulatory protein, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10369 ; - skos:exactMatch HGNC_symbol:CACNG2 ; + skos:exactMatch UMLS:C1413072, + HGNC:1406, + HGNC_symbol:CACNG2 ; biolink:category biolink:Gene . OMIM:602912 a owl:Class ; @@ -164424,7 +169385,6 @@ OMIM:602912 a owl:Class ; PMID:28472630, PMID:9374518, PMID:9405604 ; - oboInOwl:hasDbXref UMLS:C1416500 ; oboInOwl:hasExactSynonym "EIF6", "eukaryotic translation initiation factor 3a", "eukaryotic translation initiation factor 6", @@ -164432,7 +169392,9 @@ OMIM:602912 a owl:Class ; "p27, beta-4 integrin-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3692 ; - skos:exactMatch HGNC_symbol:EIF6 ; + skos:exactMatch UMLS:C1416500, + HGNC:6159, + HGNC_symbol:EIF6 ; biolink:category biolink:Gene . OMIM:602913 a owl:Class ; @@ -164441,14 +169403,15 @@ OMIM:602913 a owl:Class ; PMID:10679924, PMID:11971976, PMID:8702627 ; - oboInOwl:hasDbXref UMLS:C1413549 ; oboInOwl:hasExactSynonym "PLK3", "cytokine-inducible kinase", "polo-like kinase 3", "proliferation-related kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1263 ; - skos:exactMatch HGNC_symbol:PLK3 ; + skos:exactMatch UMLS:C1413549, + HGNC:2154, + HGNC_symbol:PLK3 ; biolink:category biolink:Gene . OMIM:602914 a owl:Class ; @@ -164460,38 +169423,41 @@ OMIM:602914 a owl:Class ; PMID:17636116, PMID:19805235, PMID:9514918 ; - oboInOwl:hasDbXref UMLS:C1412499 ; oboInOwl:hasExactSynonym "AQP9", "aquaporin 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:366 ; - skos:exactMatch HGNC_symbol:AQP9 ; + skos:exactMatch UMLS:C1412499, + HGNC:643, + HGNC_symbol:AQP9 ; biolink:category biolink:Gene . OMIM:602915 a owl:Class ; rdfs:label "GET1" ; IAO:0000142 PMID:9544840 ; - oboInOwl:hasDbXref UMLS:C1421520 ; oboInOwl:hasExactSynonym "GET1", "congenital heart disease 5 gene, formerly", "guided entry of tail-anchored proteins factor 1", "tryptophan-rich basic protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7485 ; - skos:exactMatch HGNC_symbol:GET1 ; + skos:exactMatch UMLS:C1421520, + HGNC:12790, + HGNC_symbol:GET1 ; biolink:category biolink:Gene . OMIM:602916 a owl:Class ; rdfs:label "UBE2E1" ; IAO:0000142 PMID:8576257 ; - oboInOwl:hasDbXref UMLS:C1421276 ; oboInOwl:hasExactSynonym "UBE2E1", "ubcm3", "ubiquitin-conjugating enzyme e2e 1", "ubiquitin-conjugating enzyme ubch6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7324 ; - skos:exactMatch HGNC_symbol:UBE2E1 ; + skos:exactMatch UMLS:C1421276, + HGNC:12477, + HGNC_symbol:UBE2E1 ; biolink:category biolink:Gene . OMIM:602917 a owl:Class ; @@ -164519,7 +169485,6 @@ OMIM:602917 a owl:Class ; PMID:8595418, PMID:9084440, PMID:9325060 ; - oboInOwl:hasDbXref UMLS:C1414160 ; oboInOwl:hasExactSynonym "RCAN1", "calcipressin 1", "down syndrome critical region gene 1", @@ -164528,7 +169493,9 @@ OMIM:602917 a owl:Class ; "regulator of calcineurin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1827 ; - skos:exactMatch HGNC_symbol:RCAN1 ; + skos:exactMatch UMLS:C1414160, + HGNC:3040, + HGNC_symbol:RCAN1 ; biolink:category biolink:Gene . OMIM:602918 a owl:Class ; @@ -164539,8 +169506,6 @@ OMIM:602918 a owl:Class ; PMID:9177188 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:619013 ; - oboInOwl:hasDbXref UMLS:C1414534, - UMLS:C5436603 ; oboInOwl:hasExactSynonym "FARSA", "cml33", "phenylalanine-trna synthetase, alpha subunit", @@ -164549,7 +169514,10 @@ OMIM:602918 a owl:Class ; "phersa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2193 ; - skos:exactMatch HGNC_symbol:FARSA ; + skos:exactMatch UMLS:C1414534, + UMLS:C5436603, + HGNC:3592, + HGNC_symbol:FARSA ; biolink:category biolink:Gene . OMIM:602919 a owl:Class ; @@ -164561,7 +169529,6 @@ OMIM:602919 a owl:Class ; PMID:8152267, PMID:9008160, PMID:9790776 ; - oboInOwl:hasDbXref UMLS:C1333246 ; oboInOwl:hasExactSynonym "DOK1", "docking protein 1", "docking protein, 62-kd", @@ -164569,7 +169536,9 @@ OMIM:602919 a owl:Class ; "p62dok" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1796 ; - skos:exactMatch HGNC_symbol:DOK1 ; + skos:exactMatch UMLS:C1333246, + HGNC:2990, + HGNC_symbol:DOK1 ; biolink:category biolink:Gene . OMIM:602920 a owl:Class ; @@ -164580,27 +169549,29 @@ OMIM:602920 a owl:Class ; PMID:7490069, PMID:7589475, PMID:9511759 ; - oboInOwl:hasDbXref UMLS:C1416800, - UMLS:C1864339 ; oboInOwl:hasExactSynonym "LASP1", "lasp1/mll fusion gene", "lim and sh3 protein 1", "mln50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3927 ; - skos:exactMatch HGNC_symbol:LASP1 ; + skos:exactMatch UMLS:C1416800, + UMLS:C1864339, + HGNC:6513, + HGNC_symbol:LASP1 ; biolink:category biolink:Gene . OMIM:602921 a owl:Class ; rdfs:label "PSPN" ; IAO:0000142 PMID:10072588, PMID:9491986 ; - oboInOwl:hasDbXref UMLS:C1419050 ; oboInOwl:hasExactSynonym "PSPN", "persephin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5623 ; - skos:exactMatch HGNC_symbol:PSPN ; + skos:exactMatch UMLS:C1419050, + HGNC:9579, + HGNC_symbol:PSPN ; biolink:category biolink:Gene . OMIM:602922 a owl:Class ; @@ -164613,13 +169584,14 @@ OMIM:602923 a owl:Class ; PMID:29348366, PMID:7503932, PMID:8350924 ; - oboInOwl:hasDbXref UMLS:C1419289 ; oboInOwl:hasExactSynonym "RBBP4", "rbap48", "retinoblastoma-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5928 ; - skos:exactMatch HGNC_symbol:RBBP4 ; + skos:exactMatch UMLS:C1419289, + HGNC:9887, + HGNC_symbol:RBBP4 ; biolink:category biolink:Gene . OMIM:602924 a owl:Class ; @@ -164627,14 +169599,15 @@ OMIM:602924 a owl:Class ; IAO:0000142 PMID:10436159, PMID:8649376, PMID:9531558 ; - oboInOwl:hasDbXref UMLS:C1538857 ; oboInOwl:hasExactSynonym "RND3", "arhe", "ras homolog gene family, member e", "rho family gtpase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390 ; - skos:exactMatch HGNC_symbol:RND3 ; + skos:exactMatch UMLS:C1538857, + HGNC:671, + HGNC_symbol:RND3 ; biolink:category biolink:Gene . OMIM:602925 a owl:Class ; @@ -164647,7 +169620,6 @@ OMIM:602925 a owl:Class ; PMID:18594509, PMID:20053680, PMID:8246984 ; - oboInOwl:hasDbXref UMLS:C1335213 ; oboInOwl:hasExactSynonym "PIK3CB", "p110-beta", "phosphatidylinositol 3-kinase, catalytic, 110-kd, beta", @@ -164657,7 +169629,9 @@ OMIM:602925 a owl:Class ; "pik3-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5291 ; - skos:exactMatch HGNC_symbol:PIK3CB ; + skos:exactMatch UMLS:C1335213, + HGNC:8976, + HGNC_symbol:PIK3CB ; biolink:category biolink:Gene . OMIM:602926 a owl:Class ; @@ -164682,28 +169656,30 @@ OMIM:602926 a owl:Class ; PMID:9545644 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:612164 ; - oboInOwl:hasDbXref UMLS:C1420506, - UMLS:C2677326, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "STXBP1", "munc18-1", "syntaxin-binding protein 1", "unc18, c. elegans, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6812 ; - skos:exactMatch HGNC_symbol:STXBP1 ; + skos:exactMatch UMLS:C1420506, + UMLS:C2677326, + UMLS:C2986382, + HGNC:11444, + HGNC_symbol:STXBP1 ; biolink:category biolink:Gene . OMIM:602927 a owl:Class ; rdfs:label "GPR19" ; IAO:0000142 PMID:10480372, PMID:8830667 ; - oboInOwl:hasDbXref UMLS:C1415212 ; oboInOwl:hasExactSynonym "GPR19", "g protein-coupled receptor 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2842 ; - skos:exactMatch HGNC_symbol:GPR19 ; + skos:exactMatch UMLS:C1415212, + HGNC:4473, + HGNC_symbol:GPR19 ; biolink:category biolink:Gene . OMIM:602928 a owl:Class ; @@ -164711,34 +169687,35 @@ OMIM:602928 a owl:Class ; IAO:0000142 PMID:10662549, PMID:11716785, PMID:8886980 ; - oboInOwl:hasDbXref UMLS:C1420780 ; oboInOwl:hasExactSynonym "TMOD2", "n-tropomodulin", "tropomodulin 2", "tropomodulin, neuron-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29767 ; - skos:exactMatch HGNC_symbol:TMOD2 ; + skos:exactMatch UMLS:C1420780, + HGNC:11872, + HGNC_symbol:TMOD2 ; biolink:category biolink:Gene . OMIM:602929 a owl:Class ; rdfs:label "VWA5A" ; IAO:0000142 PMID:14504409, PMID:9417908 ; - oboInOwl:hasDbXref UMLS:C1334348 ; oboInOwl:hasExactSynonym "VWA5A", "breast cancer suppressor candidate 1", "loss of heterozygosity, chromosome 11, region 2, gene a", "von willebrand factor a domain-containing protein 5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4013 ; - skos:exactMatch HGNC_symbol:VWA5A ; + skos:exactMatch UMLS:C1334348, + HGNC:6658, + HGNC_symbol:VWA5A ; biolink:category biolink:Gene . OMIM:602930 a owl:Class ; rdfs:label "REXO4" ; IAO:0000142 PMID:9325058 ; - oboInOwl:hasDbXref UMLS:C1826806 ; oboInOwl:hasExactSynonym "REXO4", "RNA exonuclease 4, s. cerevisiae, homolog of", "prevents mitotic catastrophe 2, xenopus, homolog of", @@ -164746,7 +169723,9 @@ OMIM:602930 a owl:Class ; "rex4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57109 ; - skos:exactMatch HGNC_symbol:REXO4 ; + skos:exactMatch UMLS:C1826806, + HGNC:12820, + HGNC_symbol:REXO4 ; biolink:category biolink:Gene . OMIM:602931 a owl:Class ; @@ -164762,17 +169741,18 @@ OMIM:602931 a owl:Class ; PMID:9256479 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:179300 ; - oboInOwl:hasDbXref UMLS:C1334469, - UMLS:C3542024, - UMLS:C4479677, - UMLS:C5241445 ; oboInOwl:hasExactSynonym "SMAD6", "mothers against decapentaplegic, drosophila, homolog of, 6", "sma- and mad-related protein 6", "smad family member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4091 ; - skos:exactMatch HGNC_symbol:SMAD6 ; + skos:exactMatch UMLS:C1334469, + UMLS:C3542024, + UMLS:C4479677, + UMLS:C5241445, + HGNC:6772, + HGNC_symbol:SMAD6 ; biolink:category biolink:Gene . OMIM:602932 a owl:Class ; @@ -164794,15 +169774,16 @@ OMIM:602932 a owl:Class ; PMID:9730599 ; RO:0002525 CHR:9606chr18q21.1 ; RO:0003303 OMIM:612229 ; - oboInOwl:hasDbXref UMLS:C1334470, - UMLS:C2677123 ; oboInOwl:hasExactSynonym "SMAD7", "mothers against decapentaplegic, drosophila, homolog of, 7", "sma- and mad-related protein 7", "smad family member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4092 ; - skos:exactMatch HGNC_symbol:SMAD7 ; + skos:exactMatch UMLS:C1334470, + UMLS:C2677123, + HGNC:6773, + HGNC_symbol:SMAD7 ; biolink:category biolink:Gene . OMIM:602933 a owl:Class ; @@ -164811,24 +169792,26 @@ OMIM:602933 a owl:Class ; PMID:7776974, PMID:9466265, PMID:9598321 ; - oboInOwl:hasDbXref UMLS:C1421151 ; oboInOwl:hasExactSynonym "TRIP6", "opa-interacting protein 1", "thyroid hormone receptor interactor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7205 ; - skos:exactMatch HGNC_symbol:TRIP6 ; + skos:exactMatch UMLS:C1421151, + HGNC:12311, + HGNC_symbol:TRIP6 ; biolink:category biolink:Gene . OMIM:602934 a owl:Class ; rdfs:label "SDF2" ; IAO:0000142 PMID:8918255 ; - oboInOwl:hasDbXref UMLS:C1419904 ; oboInOwl:hasExactSynonym "SDF2", "stromal cell-derived factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6388 ; - skos:exactMatch HGNC_symbol:SDF2 ; + skos:exactMatch UMLS:C1419904, + HGNC:10675, + HGNC_symbol:SDF2 ; biolink:category biolink:Gene . OMIM:602935 a owl:Class ; @@ -164846,12 +169829,13 @@ OMIM:602935 a owl:Class ; PMID:9878243 ; RO:0002525 CHR:9606chr1p33 ; RO:0003303 OMIM:606581 ; - oboInOwl:hasDbXref UMLS:C1414512 ; oboInOwl:hasExactSynonym "FAAH", "fatty acid amide hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2166 ; - skos:exactMatch HGNC_symbol:FAAH ; + skos:exactMatch UMLS:C1414512, + HGNC:3553, + HGNC_symbol:FAAH ; biolink:category biolink:Gene . OMIM:602936 a owl:Class ; @@ -164875,7 +169859,6 @@ OMIM:602937 a owl:Class ; PMID:9887100 ; RO:0002525 CHR:9606chr6q24.1 ; RO:0003303 OMIM:614431 ; - oboInOwl:hasDbXref UMLS:C1413430 ; oboInOwl:hasExactSynonym "CITED2", "cbp/p300-interacting transactivator, with glu/asp-rich c-terminal domain, 2", "melanocyte-specific gene 1-related gene 1", @@ -164883,7 +169866,9 @@ OMIM:602937 a owl:Class ; "p35srj" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10370 ; - skos:exactMatch HGNC_symbol:CITED2 ; + skos:exactMatch UMLS:C1413430, + HGNC:1987, + HGNC_symbol:CITED2 ; biolink:category biolink:Gene . OMIM:602938 a owl:Class ; @@ -164894,27 +169879,29 @@ OMIM:602938 a owl:Class ; PMID:8954802 ; RO:0002525 CHR:9606chr9q31.1 ; RO:0003303 OMIM:619232 ; - oboInOwl:hasDbXref UMLS:C1412726 ; oboInOwl:hasExactSynonym "BAAT", "bacat", "bile acid coa:amino acid n-acyltransferase", "glycine n-choloyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:570 ; - skos:exactMatch HGNC_symbol:BAAT ; + skos:exactMatch UMLS:C1412726, + HGNC:932, + HGNC_symbol:BAAT ; biolink:category biolink:Gene . OMIM:602939 a owl:Class ; rdfs:label "FOXS1" ; IAO:0000142 PMID:9325056 ; - oboInOwl:hasDbXref UMLS:C1414632 ; oboInOwl:hasExactSynonym "FOXS1", "forkhead box s1", "forkhead, drosophila, homolog-like 18", "forkhead-related activator 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2307 ; - skos:exactMatch HGNC_symbol:FOXS1 ; + skos:exactMatch UMLS:C1414632, + HGNC:3735, + HGNC_symbol:FOXS1 ; biolink:category biolink:Gene . OMIM:602940 a owl:Class ; @@ -164925,7 +169912,6 @@ OMIM:602940 a owl:Class ; PMID:8406449, PMID:8700893, PMID:9598313 ; - oboInOwl:hasDbXref UMLS:C1537665 ; oboInOwl:hasExactSynonym "MARCKSL1", "f52", "mac-marcks", @@ -164934,7 +169920,9 @@ OMIM:602940 a owl:Class ; "mlp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65108 ; - skos:exactMatch HGNC_symbol:MARCKSL1 ; + skos:exactMatch UMLS:C1537665, + HGNC:7142, + HGNC_symbol:MARCKSL1 ; biolink:category biolink:Gene . OMIM:602941 a owl:Class ; @@ -164951,7 +169939,6 @@ OMIM:602941 a owl:Class ; PMID:9136932, PMID:9697683, PMID:9697697 ; - oboInOwl:hasDbXref UMLS:C1366459 ; oboInOwl:hasExactSynonym "BCAR1", "bcar1 scaffold protein, cas family member", "breast cancer antiestrogen resistance 1", @@ -164961,20 +169948,23 @@ OMIM:602941 a owl:Class ; "p130cas" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9564 ; - skos:exactMatch HGNC_symbol:BCAR1 ; + skos:exactMatch UMLS:C1366459, + HGNC:971, + HGNC_symbol:BCAR1 ; biolink:category biolink:Gene . OMIM:602942 a owl:Class ; rdfs:label "EVI5" ; IAO:0000142 PMID:16439210, PMID:9618176 ; - oboInOwl:hasDbXref UMLS:C1414481 ; oboInOwl:hasExactSynonym "EVI5", "ecotropic viral integration site 5", "neuroblastoma stage 4s gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7813 ; - skos:exactMatch HGNC_symbol:EVI5 ; + skos:exactMatch UMLS:C1414481, + HGNC:3501, + HGNC_symbol:EVI5 ; biolink:category biolink:Gene . OMIM:602943 a owl:Class ; @@ -165011,8 +170001,6 @@ OMIM:602943 a owl:Class ; PMID:9403063 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:616622 ; - oboInOwl:hasDbXref UMLS:C1419603, - UMLS:C4225266 ; oboInOwl:hasExactSynonym "RORC", "rar-related orphan receptor c", "rar-related orphan receptor gamma", @@ -165020,19 +170008,23 @@ OMIM:602943 a owl:Class ; "rzr-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6097 ; - skos:exactMatch HGNC_symbol:RORC ; + skos:exactMatch UMLS:C1419603, + UMLS:C4225266, + HGNC:10260, + HGNC_symbol:RORC ; biolink:category biolink:Gene . OMIM:602944 a owl:Class ; rdfs:label "E2F6" ; IAO:0000142 PMID:12004135, PMID:9501179 ; - oboInOwl:hasDbXref UMLS:C1414229 ; oboInOwl:hasExactSynonym "E2F6", "e2f transcription factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1876 ; - skos:exactMatch HGNC_symbol:E2F6 ; + skos:exactMatch UMLS:C1414229, + HGNC:3120, + HGNC_symbol:E2F6 ; biolink:category biolink:Gene . OMIM:602945 a owl:Class ; @@ -165042,28 +170034,30 @@ OMIM:602945 a owl:Class ; PMID:18838386, PMID:9674419, PMID:9674425 ; - oboInOwl:hasDbXref UMLS:C1426233 ; oboInOwl:hasExactSynonym "TADA3", "ada3, yeast, homolog of", "transcriptional adaptor 3", "transcriptional adaptor 3-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10474 ; - skos:exactMatch HGNC_symbol:TADA3 ; + skos:exactMatch UMLS:C1426233, + HGNC:19422, + HGNC_symbol:TADA3 ; biolink:category biolink:Gene . OMIM:602946 a owl:Class ; rdfs:label "TAF6L" ; IAO:0000142 PMID:9674419, PMID:9674425 ; - oboInOwl:hasDbXref UMLS:C1424889 ; oboInOwl:hasExactSynonym "TAF6L", "pcaf-associated factor 65 alpha", "pcaf-associated factor, 65-kd", "taf6-like RNA polymerase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10629 ; - skos:exactMatch HGNC_symbol:TAF6L ; + skos:exactMatch UMLS:C1424889, + HGNC:17305, + HGNC_symbol:TAF6L ; biolink:category biolink:Gene . OMIM:602947 a owl:Class ; @@ -165072,14 +170066,15 @@ OMIM:602947 a owl:Class ; PMID:9674419, PMID:9674425, PMID:9787080 ; - oboInOwl:hasDbXref UMLS:C0812266 ; oboInOwl:hasExactSynonym "SUPT3H", "spt3", "spt3 homolog, saga and staga complex component", "suppressor of ty 3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8464 ; - skos:exactMatch HGNC_symbol:SUPT3H ; + skos:exactMatch UMLS:C0812266, + HGNC:11466, + HGNC_symbol:SUPT3H ; biolink:category biolink:Gene . OMIM:602948 a owl:Class ; @@ -165093,8 +170088,6 @@ OMIM:602948 a owl:Class ; PMID:9441753, PMID:9512535, PMID:9892177 ; - oboInOwl:hasDbXref UMLS:C1419241, - UMLS:C3484353 ; oboInOwl:hasExactSynonym "RAD51B", "rad51 homolog 2", "rad51 paralog B", @@ -165104,18 +170097,22 @@ OMIM:602948 a owl:Class ; "s. cerevisiae rad51-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5890 ; - skos:exactMatch HGNC_symbol:RAD51B ; + skos:exactMatch UMLS:C1419241, + UMLS:C3484353, + HGNC:9822, + HGNC_symbol:RAD51B ; biolink:category biolink:Gene . OMIM:602949 a owl:Class ; rdfs:label "SAP18" ; IAO:0000142 PMID:9150135 ; - oboInOwl:hasDbXref UMLS:C1419813 ; oboInOwl:hasExactSynonym "SAP18", "sin3-associated polypeptide, 18-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10284 ; - skos:exactMatch HGNC_symbol:SAP18 ; + skos:exactMatch UMLS:C1419813, + HGNC:10530, + HGNC_symbol:SAP18 ; biolink:category biolink:Gene . OMIM:602950 a owl:Class ; @@ -165130,7 +170127,6 @@ OMIM:602950 a owl:Class ; PMID:8675017, PMID:9029147, PMID:9545638 ; - oboInOwl:hasDbXref UMLS:C1826697 ; oboInOwl:hasExactSynonym "PRMT1", "heterogeneous nuclear ribonucleoprotein methyltransferase 1-like 2", "hmt1-like 2", @@ -165138,20 +170134,23 @@ OMIM:602950 a owl:Class ; "protein arginine methyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3276 ; - skos:exactMatch HGNC_symbol:PRMT1 ; + skos:exactMatch UMLS:C1826697, + HGNC:5187, + HGNC_symbol:PRMT1 ; biolink:category biolink:Gene . OMIM:602951 a owl:Class ; rdfs:label "ZFP37" ; IAO:0000142 PMID:8357008, PMID:9585434 ; - oboInOwl:hasDbXref UMLS:C1421572 ; oboInOwl:hasExactSynonym "ZFP37", "zfp37 zinc finger protein", "zinc finger protein 37, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7539 ; - skos:exactMatch HGNC_symbol:ZFP37 ; + skos:exactMatch UMLS:C1421572, + HGNC:12863, + HGNC_symbol:ZFP37 ; biolink:category biolink:Gene . OMIM:602952 a owl:Class ; @@ -165166,14 +170165,15 @@ OMIM:602952 a owl:Class ; PMID:9618163 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:619695 ; - oboInOwl:hasDbXref UMLS:C1421505 ; oboInOwl:hasExactSynonym "NSD2", "multiple myeloma set domain", "nuclear receptor-binding set domain protein 2", "wolf-hirschhorn syndrome candidate 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7468 ; - skos:exactMatch HGNC_symbol:NSD2 ; + skos:exactMatch UMLS:C1421505, + HGNC:12766, + HGNC_symbol:NSD2 ; biolink:category biolink:Gene . OMIM:602953 a owl:Class ; @@ -165182,7 +170182,6 @@ OMIM:602953 a owl:Class ; PMID:10415358, PMID:10860664, PMID:15107403 ; - oboInOwl:hasDbXref UMLS:C1415524 ; oboInOwl:hasExactSynonym "HEY1", "hairy/enhancer of split-related repressor protein 2", "hairy/enhancer of split-related with yrpw motif 1", @@ -165190,7 +170189,9 @@ OMIM:602953 a owl:Class ; "hesr1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23462 ; - skos:exactMatch HGNC_symbol:HEY1 ; + skos:exactMatch UMLS:C1415524, + HGNC:4880, + HGNC_symbol:HEY1 ; biolink:category biolink:Gene . OMIM:602954 a owl:Class ; @@ -165207,7 +170208,6 @@ OMIM:602954 a owl:Class ; PMID:9570954 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:614291 ; - oboInOwl:hasDbXref UMLS:C1419242 ; oboInOwl:hasExactSynonym "RAD51D", "rad51 paralog d", "rad51, s. cerevisiae, homolog of, d", @@ -165215,7 +170215,9 @@ OMIM:602954 a owl:Class ; "trad" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5892 ; - skos:exactMatch HGNC_symbol:RAD51D ; + skos:exactMatch UMLS:C1419242, + HGNC:9823, + HGNC_symbol:RAD51D ; biolink:category biolink:Gene . OMIM:602955 a owl:Class ; @@ -165228,7 +170230,6 @@ OMIM:602955 a owl:Class ; PMID:8262073 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:617126 ; - oboInOwl:hasDbXref UMLS:C1336569 ; oboInOwl:hasExactSynonym "TAF6", "taf6 RNA polymerase ii, tata box-binding protein-associated factor, 80-kd", "tafii70", @@ -165238,7 +170239,9 @@ OMIM:602955 a owl:Class ; "tbp-associated factor, RNA polymerase ii, 70- to 85-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6878 ; - skos:exactMatch HGNC_symbol:TAF6 ; + skos:exactMatch UMLS:C1336569, + HGNC:11540, + HGNC_symbol:TAF6 ; biolink:category biolink:Gene . OMIM:602956 a owl:Class ; @@ -165267,14 +170270,15 @@ OMIM:602956 a owl:Class ; PMID:9806548 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:614082 ; - oboInOwl:hasDbXref UMLS:C1333532 ; oboInOwl:hasExactSynonym "FANCG", "fancg gene", "x-ray repair cross complementing 9", "x-ray repair, complementing defective, 1n chinese hamster, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2189 ; - skos:exactMatch HGNC_symbol:FANCG ; + skos:exactMatch UMLS:C1333532, + HGNC:3588, + HGNC_symbol:FANCG ; biolink:category biolink:Gene . OMIM:602957 a owl:Class ; @@ -165283,14 +170287,15 @@ OMIM:602957 a owl:Class ; PMID:9151897, PMID:9430724, PMID:9691168 ; - oboInOwl:hasDbXref UMLS:C1332685 ; oboInOwl:hasExactSynonym "CCL22", "chemokine, cc motif, ligand 22", "macrophage-derived chemokine", "small inducible cytokine subfamily a, member 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6367 ; - skos:exactMatch HGNC_symbol:CCL22 ; + skos:exactMatch UMLS:C1332685, + HGNC:10621, + HGNC_symbol:CCL22 ; biolink:category biolink:Gene . OMIM:602958 a owl:Class ; @@ -165310,13 +170315,14 @@ OMIM:602958 a owl:Class ; PMID:8455596, PMID:9114008, PMID:9722955 ; - oboInOwl:hasDbXref UMLS:C1420010 ; oboInOwl:hasExactSynonym "SGK1", "serum/glucocorticoid-regulated kinase 1", "sgk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6446 ; - skos:exactMatch HGNC_symbol:SGK1 ; + skos:exactMatch UMLS:C1420010, + HGNC:10810, + HGNC_symbol:SGK1 ; biolink:category biolink:Gene . OMIM:602959 a owl:Class ; @@ -165332,15 +170338,16 @@ OMIM:602959 a owl:Class ; PMID:9539760 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:616393 ; - oboInOwl:hasDbXref UMLS:C1414273, - UMLS:C4225337, - UMLS:C4225343 ; oboInOwl:hasExactSynonym "EEF1A2", "elongation factor 1, alpha-2", "eukaryotic translation elongation factor 1, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1917 ; - skos:exactMatch HGNC_symbol:EEF1A2 ; + skos:exactMatch UMLS:C1414273, + UMLS:C4225337, + UMLS:C4225343, + HGNC:3192, + HGNC_symbol:EEF1A2 ; biolink:category biolink:Gene . OMIM:602960 a owl:Class ; @@ -165352,7 +170359,6 @@ OMIM:602962 a owl:Class ; IAO:0000142 PMID:16162672, PMID:7724550, PMID:8530467 ; - oboInOwl:hasDbXref UMLS:C1421274 ; oboInOwl:hasExactSynonym "UBE2D2", "ubc4", "ubc4/5, s. cerevisiae, homolog of", @@ -165360,7 +170366,9 @@ OMIM:602962 a owl:Class ; "ubiquitin-conjugating enzyme ubch5b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7322 ; - skos:exactMatch HGNC_symbol:UBE2D2 ; + skos:exactMatch UMLS:C1421274, + HGNC:12475, + HGNC_symbol:UBE2D2 ; biolink:category biolink:Gene . OMIM:602963 a owl:Class ; @@ -165371,14 +170379,15 @@ OMIM:602963 a owl:Class ; PMID:20705837, PMID:25355358, PMID:8530467 ; - oboInOwl:hasDbXref UMLS:C1421275 ; oboInOwl:hasExactSynonym "UBE2D3", "ubc4/5, s. cerevisiae, homolog of", "ubiquitin-conjugating enzyme e2d 3", "ubiquitin-conjugating enzyme ubch5c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7323 ; - skos:exactMatch HGNC_symbol:UBE2D3 ; + skos:exactMatch UMLS:C1421275, + HGNC:12476, + HGNC_symbol:UBE2D3 ; biolink:category biolink:Gene . OMIM:602964 a owl:Class ; @@ -165387,13 +170396,14 @@ OMIM:602964 a owl:Class ; PMID:16275808, PMID:19661431, PMID:9013868 ; - oboInOwl:hasDbXref UMLS:C1421206 ; oboInOwl:hasExactSynonym "TSNAX", "translin-associated factor 10", "trax" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7257 ; - skos:exactMatch HGNC_symbol:TSNAX ; + skos:exactMatch UMLS:C1421206, + HGNC:12380, + HGNC_symbol:TSNAX ; biolink:category biolink:Gene . OMIM:602965 a owl:Class ; @@ -165405,14 +170415,15 @@ OMIM:602965 a owl:Class ; PMID:19307565, PMID:7931318, PMID:9375786 ; - oboInOwl:hasDbXref UMLS:C1414516 ; oboInOwl:hasExactSynonym "FABP7", "brain lipid-binding protein", "fatty acid-binding protein 7", "fatty acid-binding protein, brain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2173 ; - skos:exactMatch HGNC_symbol:FABP7 ; + skos:exactMatch UMLS:C1414516, + HGNC:3562, + HGNC_symbol:FABP7 ; biolink:category biolink:Gene . OMIM:602967 a owl:Class ; @@ -165421,26 +170432,28 @@ OMIM:602967 a owl:Class ; PMID:7573366, PMID:8134364, PMID:9671742 ; - oboInOwl:hasDbXref UMLS:C1421705 ; oboInOwl:hasExactSynonym "ZNF217", "zinc finger protein 217" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7764 ; - skos:exactMatch HGNC_symbol:ZNF217 ; + skos:exactMatch UMLS:C1421705, + HGNC:13009, + HGNC_symbol:ZNF217 ; biolink:category biolink:Gene . OMIM:602968 a owl:Class ; rdfs:label "BCAS1" ; IAO:0000142 PMID:17918747, PMID:9671742 ; - oboInOwl:hasDbXref UMLS:C1332387 ; oboInOwl:hasExactSynonym "BCAS1", "brain-enriched myelin-associated protein 1", "breast carcinoma amplified sequence 1", "novel amplified 1n breast cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8537 ; - skos:exactMatch HGNC_symbol:BCAS1 ; + skos:exactMatch UMLS:C1332387, + HGNC:974, + HGNC_symbol:BCAS1 ; biolink:category biolink:Gene . OMIM:602969 a owl:Class ; @@ -165456,13 +170469,14 @@ OMIM:602969 a owl:Class ; PMID:25863252, PMID:27381092, PMID:9676434 ; - oboInOwl:hasDbXref UMLS:C1414466 ; oboInOwl:hasExactSynonym "ESRRG", "estrogen-related receptor 3", "estrogen-related receptor, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2104 ; - skos:exactMatch HGNC_symbol:ESRRG ; + skos:exactMatch UMLS:C1414466, + HGNC:3474, + HGNC_symbol:ESRRG ; biolink:category biolink:Gene . OMIM:602970 a owl:Class ; @@ -165471,14 +170485,15 @@ OMIM:602970 a owl:Class ; PMID:10965137, PMID:9168958, PMID:9395085 ; - oboInOwl:hasDbXref UMLS:C1416702 ; oboInOwl:hasExactSynonym "KPNA4", "importin alpha-3", "karyopherin alpha-4", "qip1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3840 ; - skos:exactMatch HGNC_symbol:KPNA4 ; + skos:exactMatch UMLS:C1416702, + HGNC:6397, + HGNC_symbol:KPNA4 ; biolink:category biolink:Gene . OMIM:602971 a owl:Class ; @@ -165488,13 +170503,14 @@ OMIM:602971 a owl:Class ; PMID:7910827, PMID:8096061, PMID:8706133 ; - oboInOwl:hasDbXref UMLS:C1420595 ; oboInOwl:hasExactSynonym "TBCC", "cofactor c 1n beta-tubulin folding", "tubulin-specific chaperone c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6903 ; - skos:exactMatch HGNC_symbol:TBCC ; + skos:exactMatch UMLS:C1420595, + HGNC:11580, + HGNC_symbol:TBCC ; biolink:category biolink:Gene . OMIM:602972 a owl:Class ; @@ -165503,12 +170519,13 @@ OMIM:602972 a owl:Class ; PMID:11738832, PMID:17172443, PMID:9618252 ; - oboInOwl:hasDbXref UMLS:C1418433 ; oboInOwl:hasExactSynonym "PDE8A", "phosphodiesterase 8a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5151 ; - skos:exactMatch HGNC_symbol:PDE8A ; + skos:exactMatch UMLS:C1418433, + HGNC:8793, + HGNC_symbol:PDE8A ; biolink:category biolink:Gene . OMIM:602973 a owl:Class ; @@ -165517,13 +170534,14 @@ OMIM:602973 a owl:Class ; PMID:9624145, PMID:9624146, PMID:9856478 ; - oboInOwl:hasDbXref UMLS:C1418435 ; oboInOwl:hasExactSynonym "PDE9A", "homo sapiens phosphodiesterase 9a2", "phosphodiesterase 9a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5152 ; - skos:exactMatch HGNC_symbol:PDE9A ; + skos:exactMatch UMLS:C1418435, + HGNC:8795, + HGNC_symbol:PDE9A ; biolink:category biolink:Gene . OMIM:602975 a owl:Class ; @@ -165537,13 +170555,14 @@ OMIM:602976 a owl:Class ; PMID:11230181, PMID:12446771, PMID:8973301 ; - oboInOwl:hasDbXref UMLS:C1537926 ; oboInOwl:hasExactSynonym "MLX", "max-like protein 10", "transcription factor-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6945 ; - skos:exactMatch HGNC_symbol:MLX ; + skos:exactMatch UMLS:C1537926, + HGNC:11645, + HGNC_symbol:MLX ; biolink:category biolink:Gene . OMIM:602977 a owl:Class ; @@ -165554,13 +170573,14 @@ OMIM:602977 a owl:Class ; PMID:2011597, PMID:8666297, PMID:9605860 ; - oboInOwl:hasDbXref UMLS:C1415188 ; oboInOwl:hasExactSynonym "GP2", "glycoprotein 2, zymogen granule membrane", "zymogen granule membrane glycoprotein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2813 ; - skos:exactMatch HGNC_symbol:GP2 ; + skos:exactMatch UMLS:C1415188, + HGNC:4441, + HGNC_symbol:GP2 ; biolink:category biolink:Gene . OMIM:602978 a owl:Class ; @@ -165574,7 +170594,6 @@ OMIM:602978 a owl:Class ; PMID:9121482 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:615414 ; - oboInOwl:hasDbXref UMLS:C1414264 ; oboInOwl:hasExactSynonym "PHC1", "early development regulator 1", "human polyhomeotic homolog 1", @@ -165583,14 +170602,15 @@ OMIM:602978 a owl:Class ; "retinoic acid-activated early-28, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1911 ; - skos:exactMatch HGNC_symbol:PHC1 ; + skos:exactMatch UMLS:C1414264, + HGNC:3182, + HGNC_symbol:PHC1 ; biolink:category biolink:Gene . OMIM:602979 a owl:Class ; rdfs:label "PHC2" ; IAO:0000142 PMID:15386022, PMID:9121482 ; - oboInOwl:hasDbXref UMLS:C1414265 ; oboInOwl:hasExactSynonym "PHC2", "early development regulator 2", "human polyhomeotic homolog 2", @@ -165598,7 +170618,9 @@ OMIM:602979 a owl:Class ; "polyhomeotic-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1912 ; - skos:exactMatch HGNC_symbol:PHC2 ; + skos:exactMatch UMLS:C1414265, + HGNC:3183, + HGNC_symbol:PHC2 ; biolink:category biolink:Gene . OMIM:602980 a owl:Class ; @@ -165607,7 +170629,6 @@ OMIM:602980 a owl:Class ; PMID:18425142, PMID:9446799, PMID:9472028 ; - oboInOwl:hasDbXref UMLS:C1420413 ; oboInOwl:hasExactSynonym "SRPK2", "protein kinase, arginine/serine-rich splicing factor, 2", "protein kinase, serine/arginine-specific, 2", @@ -165615,7 +170636,9 @@ OMIM:602980 a owl:Class ; "srsf protein kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6733 ; - skos:exactMatch HGNC_symbol:SRPK2 ; + skos:exactMatch UMLS:C1420413, + HGNC:11306, + HGNC_symbol:SRPK2 ; biolink:category biolink:Gene . OMIM:602981 a owl:Class ; @@ -165629,25 +170652,27 @@ OMIM:602981 a owl:Class ; PMID:9624159 ; RO:0002525 CHR:9606chr7p13 ; RO:0003303 OMIM:618000 ; - oboInOwl:hasDbXref UMLS:C1412266 ; oboInOwl:hasExactSynonym "AEBP1", "ae-binding protein 1", "aortic carboxypeptidase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:165 ; - skos:exactMatch HGNC_symbol:AEBP1 ; + skos:exactMatch UMLS:C1412266, + HGNC:303, + HGNC_symbol:AEBP1 ; biolink:category biolink:Gene . OMIM:602982 a owl:Class ; rdfs:label "KCNN1" ; IAO:0000142 PMID:8781233 ; - oboInOwl:hasDbXref UMLS:C1416608 ; oboInOwl:hasExactSynonym "KCNN1", "potassium channel, calcium-activated, intermediate/small conductance, subfamily n, member 1", "sk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3780 ; - skos:exactMatch HGNC_symbol:KCNN1 ; + skos:exactMatch UMLS:C1416608, + HGNC:6290, + HGNC_symbol:KCNN1 ; biolink:category biolink:Gene . OMIM:602983 a owl:Class ; @@ -165664,27 +170689,29 @@ OMIM:602983 a owl:Class ; PMID:9491810 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:618658 ; - oboInOwl:hasDbXref UMLS:C1416610 ; oboInOwl:hasExactSynonym "KCNN3", "potassium channel, calcium-activated, intermediate/small conductance, subfamily n, member 3", "sk3", "skca3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3782 ; - skos:exactMatch HGNC_symbol:KCNN3 ; + skos:exactMatch UMLS:C1416610, + HGNC:6292, + HGNC_symbol:KCNN3 ; biolink:category biolink:Gene . OMIM:602984 a owl:Class ; rdfs:label "MED6" ; IAO:0000142 PMID:9234719 ; - oboInOwl:hasDbXref UMLS:C1334499 ; oboInOwl:hasExactSynonym "MED6", "RNA polymerase 2 transcriptional regulation mediator", "mediator complex subunit 6", "mediator of RNA polymerase 2 transcription, subunit 6, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10001 ; - skos:exactMatch HGNC_symbol:MED6 ; + skos:exactMatch UMLS:C1334499, + HGNC:19970, + HGNC_symbol:MED6 ; biolink:category biolink:Gene . OMIM:602985 a owl:Class ; @@ -165697,13 +170724,14 @@ OMIM:602985 a owl:Class ; PMID:9647766 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:618228 ; - oboInOwl:hasDbXref UMLS:C1417645 ; oboInOwl:hasExactSynonym "NDUFS2", "complex i, mitochondrial respiratory chain, 49-kd subunit", "nadh-ubiquinone oxidoreductase fe-s protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4720 ; - skos:exactMatch HGNC_symbol:NDUFS2 ; + skos:exactMatch UMLS:C1417645, + HGNC:7708, + HGNC_symbol:NDUFS2 ; biolink:category biolink:Gene . OMIM:602986 a owl:Class ; @@ -165711,12 +170739,13 @@ OMIM:602986 a owl:Class ; IAO:0000142 PMID:10828610, PMID:7929244, PMID:9605870 ; - oboInOwl:hasDbXref UMLS:C1414152 ; oboInOwl:hasExactSynonym "DRG2", "developmentally regulated gtp-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1819 ; - skos:exactMatch HGNC_symbol:DRG2 ; + skos:exactMatch UMLS:C1414152, + HGNC:3030, + HGNC_symbol:DRG2 ; biolink:category biolink:Gene . OMIM:602987 a owl:Class ; @@ -165730,26 +170759,28 @@ OMIM:602987 a owl:Class ; PMID:8557689 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:618140 ; - oboInOwl:hasDbXref UMLS:C1418416 ; oboInOwl:hasExactSynonym "PDE1C", "hcam3", "phosphodiesterase 1c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5137 ; - skos:exactMatch HGNC_symbol:PDE1C ; + skos:exactMatch UMLS:C1418416, + HGNC:8776, + HGNC_symbol:PDE1C ; biolink:category biolink:Gene . OMIM:602988 a owl:Class ; rdfs:label "PCDH7" ; IAO:0000142 PMID:27225120, PMID:9615233 ; - oboInOwl:hasDbXref UMLS:C1418308 ; oboInOwl:hasExactSynonym "PCDH7", "brain-heart protocadherin", "protocadherin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5099 ; - skos:exactMatch HGNC_symbol:PCDH7 ; + skos:exactMatch UMLS:C1418308, + HGNC:8659, + HGNC_symbol:PCDH7 ; biolink:category biolink:Gene . OMIM:602989 a owl:Class ; @@ -165759,24 +170790,26 @@ OMIM:602989 a owl:Class ; PMID:7990150, PMID:9758629, PMID:9856501 ; - oboInOwl:hasDbXref UMLS:C1413490 ; oboInOwl:hasExactSynonym "CLK2", "cdc-like kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1196 ; - skos:exactMatch HGNC_symbol:CLK2 ; + skos:exactMatch UMLS:C1413490, + HGNC:2069, + HGNC_symbol:CLK2 ; biolink:category biolink:Gene . OMIM:602990 a owl:Class ; rdfs:label "CLK3" ; IAO:0000142 PMID:7990150, PMID:9856501 ; - oboInOwl:hasDbXref UMLS:C1413492 ; oboInOwl:hasExactSynonym "CLK3", "cdc-like kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1198 ; - skos:exactMatch HGNC_symbol:CLK3 ; + skos:exactMatch UMLS:C1413492, + HGNC:2071, + HGNC_symbol:CLK3 ; biolink:category biolink:Gene . OMIM:602991 a owl:Class ; @@ -165824,18 +170857,19 @@ OMIM:602991 a owl:Class ; PMID:9854046 ; RO:0002525 CHR:9606chr17q22 ; RO:0003303 OMIM:186570 ; - oboInOwl:hasDbXref UMLS:C0342282, - UMLS:C1417753, - UMLS:C1861305, - UMLS:C1866656, - UMLS:C1969652, - UMLS:C3714899 ; oboInOwl:hasExactSynonym "NOG", "noggin", "noggin, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9241 ; - skos:exactMatch HGNC_symbol:NOG ; + skos:exactMatch UMLS:C0342282, + UMLS:C1417753, + UMLS:C1861305, + UMLS:C1866656, + UMLS:C1969652, + UMLS:C3714899, + HGNC:7866, + HGNC_symbol:NOG ; biolink:category biolink:Gene . OMIM:602992 a owl:Class ; @@ -165850,25 +170884,27 @@ OMIM:602992 a owl:Class ; PMID:28847005, PMID:8574854, PMID:9285412 ; - oboInOwl:hasDbXref UMLS:C1416772 ; oboInOwl:hasExactSynonym "LAIR1", "leukocyte-associated immunoglobulin-like receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3903 ; - skos:exactMatch HGNC_symbol:LAIR1 ; + skos:exactMatch UMLS:C1416772, + HGNC:6477, + HGNC_symbol:LAIR1 ; biolink:category biolink:Gene . OMIM:602993 a owl:Class ; rdfs:label "LAIR2" ; IAO:0000142 PMID:11435477, PMID:9285412 ; - oboInOwl:hasDbXref UMLS:C1416773 ; oboInOwl:hasExactSynonym "LAIR2", "cd306", "leukocyte-associated immunoglobulin-like receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3904 ; - skos:exactMatch HGNC_symbol:LAIR2 ; + skos:exactMatch UMLS:C1416773, + HGNC:6478, + HGNC_symbol:LAIR2 ; biolink:category biolink:Gene . OMIM:602994 a owl:Class ; @@ -165876,8 +170912,8 @@ OMIM:602994 a owl:Class ; IAO:0000142 PMID:7864077, PMID:8798446, PMID:9671777 ; - oboInOwl:hasDbXref UMLS:C1864303 ; - oboInOwl:hasExactSynonym "leukoregulin" . + oboInOwl:hasExactSynonym "leukoregulin" ; + skos:exactMatch UMLS:C1864303 . OMIM:602995 a owl:Class ; rdfs:label "UBE2V1" ; @@ -165886,14 +170922,15 @@ OMIM:602995 a owl:Class ; PMID:21512573, PMID:9305758, PMID:9418904 ; - oboInOwl:hasDbXref UMLS:C1421291 ; oboInOwl:hasExactSynonym "UBE2V1", "croc1", "ubiquitin-conjugating enzyme e2 variant 1", "uev1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7335 ; - skos:exactMatch HGNC_symbol:UBE2V1 ; + skos:exactMatch UMLS:C1421291, + HGNC:12494, + HGNC_symbol:UBE2V1 ; biolink:category biolink:Gene . OMIM:602996 a owl:Class ; @@ -165905,7 +170942,6 @@ OMIM:602996 a owl:Class ; PMID:9196025, PMID:9588170, PMID:9703517 ; - oboInOwl:hasDbXref UMLS:C1415884 ; oboInOwl:hasExactSynonym "IER3", "differentiation-dependent gene 2", "gly96, mouse, homolog of", @@ -165914,7 +170950,9 @@ OMIM:602996 a owl:Class ; "pacap-responsive gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8870 ; - skos:exactMatch HGNC_symbol:IER3 ; + skos:exactMatch UMLS:C1415884, + HGNC:5392, + HGNC_symbol:IER3 ; biolink:category biolink:Gene . OMIM:602997 a owl:Class ; @@ -165940,15 +170978,16 @@ OMIM:602997 a owl:Class ; PMID:9572993 ; RO:0002525 CHR:9606chr10p13 ; RO:0003303 OMIM:618884 ; - oboInOwl:hasDbXref UMLS:C1413823, - UMLS:C4551825, - UMLS:C5394384 ; oboInOwl:hasExactSynonym "CUBN", "cubilin", "intrinsic factor-cobalamin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8029 ; - skos:exactMatch HGNC_symbol:CUBN ; + skos:exactMatch UMLS:C1413823, + UMLS:C4551825, + UMLS:C5394384, + HGNC:2548, + HGNC_symbol:CUBN ; biolink:category biolink:Gene . OMIM:602998 a owl:Class ; @@ -165959,41 +170998,44 @@ OMIM:602998 a owl:Class ; PMID:9600990, PMID:9700196, PMID:9737786 ; - oboInOwl:hasDbXref UMLS:C1335851 ; oboInOwl:hasExactSynonym "SNCG", "breast cancer-specific gene 1", "persyn", "synuclein, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6623 ; - skos:exactMatch HGNC_symbol:SNCG ; + skos:exactMatch UMLS:C1335851, + HGNC:11141, + HGNC_symbol:SNCG ; biolink:category biolink:Gene . OMIM:602999 a owl:Class ; rdfs:label "PPP1R3C" ; IAO:0000142 PMID:14532330, PMID:8985175 ; - oboInOwl:hasDbXref UMLS:C1418830 ; oboInOwl:hasExactSynonym "PPP1R3C", "protein phosphatase 1, regulatory subunit 3c", "protein phosphatase 1, regulatory subunit 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5507 ; - skos:exactMatch HGNC_symbol:PPP1R3C ; + skos:exactMatch UMLS:C1418830, + HGNC:9293, + HGNC_symbol:PPP1R3C ; biolink:category biolink:Gene . OMIM:603000 a owl:Class ; rdfs:label "MRPL58" ; IAO:0000142 PMID:20186120, PMID:8575443 ; - oboInOwl:hasDbXref UMLS:C1415854 ; oboInOwl:hasExactSynonym "MRPL58", "ds1", "immature colon carcinoma transcript 1", "mitochondrial ribosomal protein l58" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3396 ; - skos:exactMatch HGNC_symbol:MRPL58 ; + skos:exactMatch UMLS:C1415854, + HGNC:5359, + HGNC_symbol:MRPL58 ; biolink:category biolink:Gene . OMIM:603001 a owl:Class ; @@ -166002,7 +171044,6 @@ OMIM:603001 a owl:Class ; PMID:12226657, PMID:9199207, PMID:9418904 ; - oboInOwl:hasDbXref UMLS:C1421292 ; oboInOwl:hasExactSynonym "1-alpha,25-dihydroxyvitamin d3-inducible transcript 1", "UBE2V2", "enterocyte differentiation-promoting factor 1", @@ -166011,7 +171052,9 @@ OMIM:603001 a owl:Class ; "uev2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7336 ; - skos:exactMatch HGNC_symbol:UBE2V2 ; + skos:exactMatch UMLS:C1421292, + HGNC:12495, + HGNC_symbol:UBE2V2 ; biolink:category biolink:Gene . OMIM:603002 a owl:Class ; @@ -166020,14 +171063,15 @@ OMIM:603002 a owl:Class ; PMID:9298975 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:619556 ; - oboInOwl:hasDbXref UMLS:C1426591 ; oboInOwl:hasExactSynonym "TNPO2", "karyopherin beta-2b", "transportin 2", "trn2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30000 ; - skos:exactMatch HGNC_symbol:TNPO2 ; + skos:exactMatch UMLS:C1426591, + HGNC:19998, + HGNC_symbol:TNPO2 ; biolink:category biolink:Gene . OMIM:603003 a owl:Class ; @@ -166036,17 +171080,16 @@ OMIM:603003 a owl:Class ; PMID:1469575, PMID:4025281, PMID:9570247 ; - oboInOwl:hasDbXref UMLS:C0008340 ; oboInOwl:hasExactSynonym "bile duct cysts", "choledochal cysts", "choledochocele" ; + skos:exactMatch UMLS:C0008340 ; biolink:category biolink:Disease . OMIM:603004 a owl:Class ; rdfs:label "NIPSNAP2" ; IAO:0000142 PMID:9615231, PMID:9661659 ; - oboInOwl:hasDbXref UMLS:C1415000 ; oboInOwl:hasExactSynonym "4-nitrophenylphosphatase domain and nonneuronal snap25-like 2", "NIPSNAP2", "glioblastoma amplified sequence", @@ -166054,7 +171097,9 @@ OMIM:603004 a owl:Class ; "nipsnap, c. elegans, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2631 ; - skos:exactMatch HGNC_symbol:NIPSNAP2 ; + skos:exactMatch UMLS:C1415000, + HGNC:4179, + HGNC_symbol:NIPSNAP2 ; biolink:category biolink:Gene . OMIM:603005 a owl:Class ; @@ -166079,7 +171124,6 @@ OMIM:603005 a owl:Class ; PMID:9872978 ; RO:0002525 CHR:9606chr10q23.2-q23.31 ; RO:0003303 OMIM:612847 ; - oboInOwl:hasDbXref UMLS:C1418268 ; oboInOwl:hasExactSynonym "3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2", "PAPSS2", "atp sulfurylase/adenosine 5-prime phosphosulfate kinase 2", @@ -166089,7 +171133,9 @@ OMIM:603005 a owl:Class ; "phosphoadenosine-phosphosulfate synthetase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9060 ; - skos:exactMatch HGNC_symbol:PAPSS2 ; + skos:exactMatch UMLS:C1418268, + HGNC:8604, + HGNC_symbol:PAPSS2 ; biolink:category biolink:Gene . OMIM:603006 a owl:Class ; @@ -166097,14 +171143,15 @@ OMIM:603006 a owl:Class ; IAO:0000142 PMID:10191097, PMID:2059658, PMID:7982033 ; - oboInOwl:hasDbXref UMLS:C1413279 ; oboInOwl:hasExactSynonym "CDH4", "cadherin 4", "cadherin, retinal", "r-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1002 ; - skos:exactMatch HGNC_symbol:CDH4 ; + skos:exactMatch UMLS:C1413279, + HGNC:1763, + HGNC_symbol:CDH4 ; biolink:category biolink:Gene . OMIM:603007 a owl:Class ; @@ -166112,14 +171159,15 @@ OMIM:603007 a owl:Class ; IAO:0000142 PMID:10191097, PMID:2059658, PMID:7743525 ; - oboInOwl:hasDbXref UMLS:C1413280 ; oboInOwl:hasExactSynonym "CDH6", "cadherin 6", "cadherin, fetal kidney", "k-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1004 ; - skos:exactMatch HGNC_symbol:CDH6 ; + skos:exactMatch UMLS:C1413280, + HGNC:1765, + HGNC_symbol:CDH6 ; biolink:category biolink:Gene . OMIM:603008 a owl:Class ; @@ -166129,12 +171177,13 @@ OMIM:603008 a owl:Class ; PMID:20972252, PMID:7982033, PMID:9615235 ; - oboInOwl:hasDbXref UMLS:C1413282 ; oboInOwl:hasExactSynonym "CDH8", "cadherin 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1006 ; - skos:exactMatch HGNC_symbol:CDH8 ; + skos:exactMatch UMLS:C1413282, + HGNC:1767, + HGNC_symbol:CDH8 ; biolink:category biolink:Gene . OMIM:603009 a owl:Class ; @@ -166176,22 +171225,22 @@ OMIM:603009 a owl:Class ; PMID:9731527 ; RO:0002525 CHR:9606chr2p13.2 ; RO:0003303 OMIM:606768 ; - oboInOwl:hasDbXref UMLS:C1414209, - UMLS:C1847532, - UMLS:C1850889, - UMLS:C4551973 ; oboInOwl:hasExactSynonym "DYSF", "dysferlin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8291 ; - skos:exactMatch HGNC_symbol:DYSF ; + skos:exactMatch UMLS:C1414209, + UMLS:C1847532, + UMLS:C1850889, + UMLS:C4551973, + HGNC:3097, + HGNC_symbol:DYSF ; biolink:category biolink:Gene . OMIM:603011 a owl:Class ; rdfs:label "SERF1A" ; IAO:0000142 PMID:8975718, PMID:9731538 ; - oboInOwl:hasDbXref UMLS:C1419971 ; oboInOwl:hasExactSynonym "SERF1A", "sma modifier 1", "small edrk-rich factor 1", @@ -166199,7 +171248,9 @@ OMIM:603011 a owl:Class ; "spinal muscular atrophy-related gene h4f5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8293 ; - skos:exactMatch HGNC_symbol:SERF1A ; + skos:exactMatch UMLS:C1419971, + HGNC:10755, + HGNC_symbol:SERF1A ; biolink:category biolink:Gene . OMIM:603012 a owl:Class ; @@ -166207,7 +171258,6 @@ OMIM:603012 a owl:Class ; IAO:0000142 PMID:1356099, PMID:1700760, PMID:2538825 ; - oboInOwl:hasDbXref UMLS:C1415756 ; oboInOwl:hasExactSynonym "HSPA1B", "heat-shock 70-kd protein 1b", "heat-shock protein, 70-kd, 1b", @@ -166216,7 +171266,9 @@ OMIM:603012 a owl:Class ; "hsp70-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3304 ; - skos:exactMatch HGNC_symbol:HSPA1B ; + skos:exactMatch UMLS:C1415756, + HGNC:5233, + HGNC_symbol:HSPA1B ; biolink:category biolink:Gene . OMIM:603014 a owl:Class ; @@ -166225,7 +171277,6 @@ OMIM:603014 a owl:Class ; PMID:9312068, PMID:9372971, PMID:9535930 ; - oboInOwl:hasDbXref UMLS:C1456387 ; oboInOwl:hasExactSynonym "MAP2K7", "jnk-activating kinase 2", "mitogen-activated protein kinase kinase 7", @@ -166233,7 +171284,9 @@ OMIM:603014 a owl:Class ; "protein kinase, mitogen-activated, kinase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5609 ; - skos:exactMatch HGNC_symbol:MAP2K7 ; + skos:exactMatch UMLS:C1456387, + HGNC:6847, + HGNC_symbol:MAP2K7 ; biolink:category biolink:Gene . OMIM:603015 a owl:Class ; @@ -166252,30 +171305,32 @@ OMIM:603015 a owl:Class ; PMID:9885574 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:618454 ; - oboInOwl:hasDbXref UMLS:C1336677, - UMLS:C5193193, - UMLS:C5193194, - UMLS:C5193229, - UMLS:C5394059 ; oboInOwl:hasExactSynonym "TRRAP", "paf400", "transformation/transcription domain-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8295 ; - skos:exactMatch HGNC_symbol:TRRAP ; + skos:exactMatch UMLS:C1336677, + UMLS:C5193193, + UMLS:C5193194, + UMLS:C5193229, + UMLS:C5394059, + HGNC:12347, + HGNC_symbol:TRRAP ; biolink:category biolink:Gene . OMIM:603016 a owl:Class ; rdfs:label "CDH19" ; IAO:0000142 PMID:10995570, PMID:9615235 ; - oboInOwl:hasDbXref UMLS:C1413276 ; oboInOwl:hasExactSynonym "CDH19", "cadherin 19", "cadherin 7, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28513 ; - skos:exactMatch HGNC_symbol:CDH19 ; + skos:exactMatch UMLS:C1413276, + HGNC:1758, + HGNC_symbol:CDH19 ; biolink:category biolink:Gene . OMIM:603017 a owl:Class ; @@ -166283,7 +171338,6 @@ OMIM:603017 a owl:Class ; IAO:0000142 PMID:10191097, PMID:8153632, PMID:9615235 ; - oboInOwl:hasDbXref UMLS:C1413274 ; oboInOwl:hasExactSynonym "CDH17", "cadherin 16, formerly", "cadherin 17", @@ -166292,7 +171346,9 @@ OMIM:603017 a owl:Class ; "li-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1015 ; - skos:exactMatch HGNC_symbol:CDH17 ; + skos:exactMatch UMLS:C1413274, + HGNC:1756, + HGNC_symbol:CDH17 ; biolink:category biolink:Gene . OMIM:603018 a owl:Class ; @@ -166300,55 +171356,59 @@ OMIM:603018 a owl:Class ; IAO:0000142 PMID:9417047, PMID:9417100, PMID:9582303 ; - oboInOwl:hasDbXref UMLS:C1412712 ; oboInOwl:hasExactSynonym "B3GALT2", "beta-3-galactosyltransferase 2", "beta-3-galt2", "udp-gal:beta-glcnac beta-1,3-galactosyltransferase, polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8707 ; - skos:exactMatch HGNC_symbol:B3GALT2 ; + skos:exactMatch UMLS:C1412712, + HGNC:917, + HGNC_symbol:B3GALT2 ; biolink:category biolink:Gene . OMIM:603019 a owl:Class ; rdfs:label "CDH18" ; IAO:0000142 PMID:10191097, PMID:9030594 ; - oboInOwl:hasDbXref UMLS:C1413275 ; oboInOwl:hasExactSynonym "CDH18", "cadherin 14, formerly", "cadherin 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1016 ; - skos:exactMatch HGNC_symbol:CDH18 ; + skos:exactMatch UMLS:C1413275, + HGNC:1757, + HGNC_symbol:CDH18 ; biolink:category biolink:Gene . OMIM:603020 a owl:Class ; rdfs:label "AFG3L1P" ; IAO:0000142 PMID:11549317, PMID:9545647 ; - oboInOwl:hasDbXref UMLS:C1412273 ; oboInOwl:hasExactSynonym "AFG3L1P", "afg3, yeast, homolog of", "afg3-like matrix aaa peptidase, subunit 1, pseudogene", "atpase family gene 3-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:172 ; - skos:exactMatch HGNC_symbol:AFG3L1P ; + skos:exactMatch UMLS:C1412273, + HGNC:314, + HGNC_symbol:AFG3L1P ; biolink:category biolink:Gene . OMIM:603021 a owl:Class ; rdfs:label "MRPS12" ; IAO:0000142 PMID:9545647, PMID:9790755 ; - oboInOwl:hasDbXref UMLS:C1419696 ; oboInOwl:hasExactSynonym "MRPS12", "mitochondrial ribosomal protein s12", "ribosomal protein, mitochondrial, s12", "rpsm12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6183 ; - skos:exactMatch HGNC_symbol:MRPS12 ; + skos:exactMatch UMLS:C1419696, + HGNC:10380, + HGNC_symbol:MRPS12 ; biolink:category biolink:Gene . OMIM:603022 a owl:Class ; @@ -166360,14 +171420,15 @@ OMIM:603022 a owl:Class ; PMID:8828041, PMID:9530632, PMID:9763670 ; - oboInOwl:hasDbXref UMLS:C1414230 ; oboInOwl:hasExactSynonym "E4F1", "e4f transcription factor 1", "p120 e4f", "transcription factor e4f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1877 ; - skos:exactMatch HGNC_symbol:E4F1 ; + skos:exactMatch UMLS:C1414230, + HGNC:3121, + HGNC_symbol:E4F1 ; biolink:category biolink:Gene . OMIM:603023 a owl:Class ; @@ -166401,8 +171462,6 @@ OMIM:603023 a owl:Class ; PMID:9892693 ; RO:0002525 CHR:9606chr7p12.2 ; RO:0003303 OMIM:616873 ; - oboInOwl:hasDbXref UMLS:C1825588, - UMLS:C1864273 ; oboInOwl:hasExactSynonym "IKZF1", "ikaros", "ikaros family zinc finger 1", @@ -166411,7 +171470,10 @@ OMIM:603023 a owl:Class ; "zinc finger protein, subfamily 1a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10320 ; - skos:exactMatch HGNC_symbol:IKZF1 ; + skos:exactMatch UMLS:C1825588, + UMLS:C1864273, + HGNC:13176, + HGNC_symbol:IKZF1 ; biolink:category biolink:Gene . OMIM:603024 a owl:Class ; @@ -166439,9 +171501,6 @@ OMIM:603024 a owl:Class ; PMID:9630625 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:614607 ; - oboInOwl:hasDbXref UMLS:C1420251, - UMLS:C3553247, - UMLS:C4310916 ; oboInOwl:hasExactSynonym "ARID1A", "arid-containing protein 1a", "at-rich interaction domain-containing protein 1a", @@ -166452,7 +171511,11 @@ OMIM:603024 a owl:Class ; "swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily f, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8289 ; - skos:exactMatch HGNC_symbol:ARID1A ; + skos:exactMatch UMLS:C1420251, + UMLS:C3553247, + UMLS:C4310916, + HGNC:11110, + HGNC_symbol:ARID1A ; biolink:category biolink:Gene . OMIM:603025 a owl:Class ; @@ -166468,8 +171531,6 @@ OMIM:603025 a owl:Class ; PMID:9616163 ; RO:0002525 CHR:9606chr11q14.2 ; RO:0003303 OMIM:601626 ; - oboInOwl:hasDbXref UMLS:C1423544, - UMLS:C1864272 ; oboInOwl:hasExactSynonym "PICALM", "clathrin assembly lymphoid-myeloid leukemia gene", "clth", @@ -166478,7 +171539,10 @@ OMIM:603025 a owl:Class ; "picalm/af10 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8301 ; - skos:exactMatch HGNC_symbol:PICALM ; + skos:exactMatch UMLS:C1423544, + UMLS:C1864272, + HGNC:15514, + HGNC_symbol:PICALM ; biolink:category biolink:Gene . OMIM:603026 a owl:Class ; @@ -166492,8 +171556,6 @@ OMIM:603026 a owl:Class ; PMID:9268638 ; RO:0002525 CHR:9606chr8q12.1 ; RO:0003303 OMIM:618907 ; - oboInOwl:hasDbXref UMLS:C1418629, - UMLS:C5394450 ; oboInOwl:hasExactSynonym "PLAG1", "plag1 zinc finger protein", "plag1/chchd7 fusion gene", @@ -166502,20 +171564,24 @@ OMIM:603026 a owl:Class ; "pleomorphic adenoma gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5324 ; - skos:exactMatch HGNC_symbol:PLAG1 ; + skos:exactMatch UMLS:C1418629, + UMLS:C5394450, + HGNC:9045, + HGNC_symbol:PLAG1 ; biolink:category biolink:Gene . OMIM:603027 a owl:Class ; rdfs:label "FBP2" ; IAO:0000142 PMID:9678974 ; - oboInOwl:hasDbXref UMLS:C1414545 ; oboInOwl:hasExactSynonym "FBP2", "d-fructose-1,6-bisphosphate 1-phosphohydrolase", "fructose-1,6-bisphosphatase 2", "fructose-1,6-bisphosphatase, muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8789 ; - skos:exactMatch HGNC_symbol:FBP2 ; + skos:exactMatch UMLS:C1414545, + HGNC:3607, + HGNC_symbol:FBP2 ; biolink:category biolink:Gene . OMIM:603028 a owl:Class ; @@ -166574,16 +171640,17 @@ OMIM:603028 a owl:Class ; PMID:9596645 ; RO:0002525 CHR:9606chr4q31.3 ; RO:0003303 OMIM:607948 ; - oboInOwl:hasDbXref UMLS:C1336634, - UMLS:C1834752, - UMLS:C1858438, - UMLS:C1968668 ; oboInOwl:hasExactSynonym "TLR2", "toll-like receptor 2", "toll/interleukin 1 receptor-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7097 ; - skos:exactMatch HGNC_symbol:TLR2 ; + skos:exactMatch UMLS:C1336634, + UMLS:C1834752, + UMLS:C1858438, + UMLS:C1968668, + HGNC:11848, + HGNC_symbol:TLR2 ; biolink:category biolink:Gene . OMIM:603030 a owl:Class ; @@ -166676,14 +171743,15 @@ OMIM:603030 a owl:Class ; PMID:9237759, PMID:9435236, PMID:9851930 ; - oboInOwl:hasDbXref UMLS:C1336636, - UMLS:C4310915 ; oboInOwl:hasExactSynonym "TLR4", "toll, drosophila, homolog of", "toll-like receptor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7099 ; - skos:exactMatch HGNC_symbol:TLR4 ; + skos:exactMatch UMLS:C1336636, + UMLS:C4310915, + HGNC:11850, + HGNC_symbol:TLR4 ; biolink:category biolink:Gene . OMIM:603031 a owl:Class ; @@ -166709,13 +171777,14 @@ OMIM:603031 a owl:Class ; PMID:9596645 ; RO:0002525 CHR:9606chr1q41 ; RO:0003303 OMIM:601744 ; - oboInOwl:hasDbXref UMLS:C1336637 ; oboInOwl:hasExactSynonym "TLR5", "toll-like receptor 5", "toll/interleukin 1 receptor-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7100 ; - skos:exactMatch HGNC_symbol:TLR5 ; + skos:exactMatch UMLS:C1336637, + HGNC:11851, + HGNC_symbol:TLR5 ; biolink:category biolink:Gene . OMIM:603032 a owl:Class ; @@ -166729,12 +171798,13 @@ OMIM:603032 a owl:Class ; PMID:7670491, PMID:9413842, PMID:9657854 ; - oboInOwl:hasDbXref UMLS:C1420281 ; oboInOwl:hasExactSynonym "SNN", "stannin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8303 ; - skos:exactMatch HGNC_symbol:SNN ; + skos:exactMatch UMLS:C1420281, + HGNC:11149, + HGNC_symbol:SNN ; biolink:category biolink:Gene . OMIM:603033 a owl:Class ; @@ -166749,13 +171819,14 @@ OMIM:603033 a owl:Class ; PMID:9758617 ; RO:0002525 CHR:9606chr3p25.1 ; RO:0003303 OMIM:603034 ; - oboInOwl:hasDbXref UMLS:C1413603 ; oboInOwl:hasExactSynonym "COLQ", "acetylcholinesterase-associated collagen", "collagenic tail of endplate acetylcholinesterase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8292 ; - skos:exactMatch HGNC_symbol:COLQ ; + skos:exactMatch UMLS:C1413603, + HGNC:2226, + HGNC_symbol:COLQ ; biolink:category biolink:Gene . OMIM:603035 a owl:Class ; @@ -166770,13 +171841,14 @@ OMIM:603035 a owl:Class ; PMID:8609984, PMID:9144227, PMID:9637508 ; - oboInOwl:hasDbXref UMLS:C1334106 ; oboInOwl:hasExactSynonym "IL16", "interleukin 16", "lymphocyte chemoattractant factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3603 ; - skos:exactMatch HGNC_symbol:IL16 ; + skos:exactMatch UMLS:C1334106, + HGNC:5980, + HGNC_symbol:IL16 ; biolink:category biolink:Gene . OMIM:603036 a owl:Class ; @@ -166791,7 +171863,6 @@ OMIM:603037 a owl:Class ; PMID:8610011, PMID:9348041, PMID:9708731 ; - oboInOwl:hasDbXref UMLS:C1537560 ; oboInOwl:hasExactSynonym "LEFTY1", "left-right determination factor 1", "left-right determination, factor B", @@ -166799,7 +171870,9 @@ OMIM:603037 a owl:Class ; "lefty1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10637 ; - skos:exactMatch HGNC_symbol:LEFTY1 ; + skos:exactMatch UMLS:C1537560, + HGNC:6552, + HGNC_symbol:LEFTY1 ; biolink:category biolink:Gene . OMIM:603038 a owl:Class ; @@ -166808,12 +171881,13 @@ OMIM:603038 a owl:Class ; PMID:8949892, PMID:9045620, PMID:9691178 ; - oboInOwl:hasDbXref UMLS:C1420338 ; oboInOwl:hasExactSynonym "SPAG4", "sperm-associated antigen 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6676 ; - skos:exactMatch HGNC_symbol:SPAG4 ; + skos:exactMatch UMLS:C1420338, + HGNC:11214, + HGNC_symbol:SPAG4 ; biolink:category biolink:Gene . OMIM:603039 a owl:Class ; @@ -166822,13 +171896,14 @@ OMIM:603039 a owl:Class ; PMID:9000049, PMID:9184233, PMID:9598315 ; - oboInOwl:hasDbXref UMLS:C1417222 ; oboInOwl:hasExactSynonym "MNT", "max-binding protein", "rox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4335 ; - skos:exactMatch HGNC_symbol:MNT ; + skos:exactMatch UMLS:C1417222, + HGNC:7188, + HGNC_symbol:MNT ; biolink:category biolink:Gene . OMIM:603042 a owl:Class ; @@ -166839,7 +171914,6 @@ OMIM:603042 a owl:Class ; PMID:8630065, PMID:9119407, PMID:9556629 ; - oboInOwl:hasDbXref UMLS:C1420264 ; oboInOwl:hasExactSynonym "SUMO2", "sentrin 2", "small ubiquitin-like modifier 2", @@ -166847,7 +171921,9 @@ OMIM:603042 a owl:Class ; "smt3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6613 ; - skos:exactMatch HGNC_symbol:SUMO2 ; + skos:exactMatch UMLS:C1420264, + HGNC:11125, + HGNC_symbol:SUMO2 ; biolink:category biolink:Gene . OMIM:603043 a owl:Class ; @@ -166856,14 +171932,15 @@ OMIM:603043 a owl:Class ; PMID:11435466, PMID:19786552, PMID:8808629 ; - oboInOwl:hasDbXref UMLS:C1417858 ; oboInOwl:hasExactSynonym "NSMAF", "factor associated with n-smase activation", "n-smase activation-associated factor", "neutral sphingomyelinase activation-associated factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8439 ; - skos:exactMatch HGNC_symbol:NSMAF ; + skos:exactMatch UMLS:C1417858, + HGNC:8017, + HGNC_symbol:NSMAF ; biolink:category biolink:Gene . OMIM:603044 a owl:Class ; @@ -166881,7 +171958,6 @@ OMIM:603044 a owl:Class ; PMID:9158001, PMID:9184226, PMID:9671765 ; - oboInOwl:hasDbXref UMLS:C1335223 ; oboInOwl:hasExactSynonym "PLAGL1", "lost on transformation 1", "plag1-like zinc finger 1", @@ -166890,7 +171966,9 @@ OMIM:603044 a owl:Class ; "zac1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5325 ; - skos:exactMatch HGNC_symbol:PLAGL1 ; + skos:exactMatch UMLS:C1335223, + HGNC:9046, + HGNC_symbol:PLAGL1 ; biolink:category biolink:Gene . OMIM:603045 a owl:Class ; @@ -166902,8 +171980,8 @@ OMIM:603047 a owl:Class ; IAO:0000142 PMID:1184316, PMID:2805714, PMID:9718344 ; - oboInOwl:hasDbXref UMLS:C0004106 ; oboInOwl:hasExactSynonym "astigmatism" ; + skos:exactMatch UMLS:C0004106 ; biolink:category biolink:Disease . OMIM:603048 a owl:Class ; @@ -166915,26 +171993,28 @@ OMIM:603048 a owl:Class ; PMID:9828142 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:617810 ; - oboInOwl:hasDbXref UMLS:C1415190 ; oboInOwl:hasExactSynonym "GPAA1", "gaa1", "glycosylphosphatidylinositol anchor attachment protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8733 ; - skos:exactMatch HGNC_symbol:GPAA1 ; + skos:exactMatch UMLS:C1415190, + HGNC:4446, + HGNC_symbol:GPAA1 ; biolink:category biolink:Gene . OMIM:603049 a owl:Class ; rdfs:label "TXNL1" ; IAO:0000142 PMID:9473519 ; - oboInOwl:hasDbXref UMLS:C1540138 ; oboInOwl:hasExactSynonym "TXNL1", "thioredoxin-like", "thioredoxin-like 1", "txl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9352 ; - skos:exactMatch HGNC_symbol:TXNL1 ; + skos:exactMatch UMLS:C1540138, + HGNC:12436, + HGNC_symbol:TXNL1 ; biolink:category biolink:Gene . OMIM:603050 a owl:Class ; @@ -166944,8 +172024,6 @@ OMIM:603050 a owl:Class ; PMID:12672821, PMID:9010225, PMID:9694699 ; - oboInOwl:hasDbXref UMLS:C1335864, - UMLS:C1864215 ; oboInOwl:hasExactSynonym "ABI1", "abi1/mll fusion gene", "abl interactor 1", @@ -166953,7 +172031,10 @@ OMIM:603050 a owl:Class ; "spectrin sh3 domain-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10006 ; - skos:exactMatch HGNC_symbol:ABI1 ; + skos:exactMatch UMLS:C1335864, + UMLS:C1864215, + HGNC:11320, + HGNC_symbol:ABI1 ; biolink:category biolink:Gene . OMIM:603051 a owl:Class ; @@ -166968,40 +172049,43 @@ OMIM:603051 a owl:Class ; PMID:9553082 ; RO:0002525 CHR:9606chr2q31.2 ; RO:0003303 OMIM:600121 ; - oboInOwl:hasDbXref UMLS:C1412284 ; oboInOwl:hasExactSynonym "AGPS", "alkyl-dhap synthase", "alkyldihydroxyacetonephosphate synthase", "alkylglycerone-phosphate synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8540 ; - skos:exactMatch HGNC_symbol:AGPS ; + skos:exactMatch UMLS:C1412284, + HGNC:327, + HGNC_symbol:AGPS ; biolink:category biolink:Gene . OMIM:603052 a owl:Class ; rdfs:label "CPSF4" ; IAO:0000142 PMID:9224719, PMID:9651582 ; - oboInOwl:hasDbXref UMLS:C1413687 ; oboInOwl:hasExactSynonym "CPSF4", "cleavage and polyadenylation specificity factor 4", "cleavage-polyadenylation specificity factor, 30-kd", "ns1 effector domain-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10898 ; - skos:exactMatch HGNC_symbol:CPSF4 ; + skos:exactMatch UMLS:C1413687, + HGNC:2327, + HGNC_symbol:CPSF4 ; biolink:category biolink:Gene . OMIM:603053 a owl:Class ; rdfs:label "HAT1" ; IAO:0000142 PMID:9427644, PMID:9727486 ; - oboInOwl:hasDbXref UMLS:C1333890 ; oboInOwl:hasExactSynonym "HAT1", "histone acetyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8520 ; - skos:exactMatch HGNC_symbol:HAT1 ; + skos:exactMatch UMLS:C1333890, + HGNC:4821, + HGNC_symbol:HAT1 ; biolink:category biolink:Gene . OMIM:603054 a owl:Class ; @@ -167016,14 +172100,15 @@ OMIM:603054 a owl:Class ; PMID:19229034, PMID:22561515, PMID:9660951 ; - oboInOwl:hasDbXref UMLS:C1539614 ; oboInOwl:hasExactSynonym "GREM1", "cystine knot superfamily 1, bmp antagonist 1", "gremlin", "gremlin 1 homolog, cystine knot superfamily" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26585 ; - skos:exactMatch HGNC_symbol:GREM1 ; + skos:exactMatch UMLS:C1539614, + HGNC:2001, + HGNC_symbol:GREM1 ; biolink:category biolink:Gene . OMIM:603055 a owl:Class ; @@ -167035,7 +172120,6 @@ OMIM:603055 a owl:Class ; PMID:8973337, PMID:9569025, PMID:9632709 ; - oboInOwl:hasDbXref UMLS:C1366586 ; oboInOwl:hasExactSynonym "SKIIP", "bx42, drosophila, homolog of", "ski-interacting protein", @@ -167043,7 +172127,9 @@ OMIM:603055 a owl:Class ; "snw1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22938 ; - skos:exactMatch HGNC_symbol:SNW1 ; + skos:exactMatch UMLS:C1366586, + HGNC:16696, + HGNC_symbol:SNW1 ; biolink:category biolink:Gene . OMIM:603056 a owl:Class ; @@ -167055,14 +172141,15 @@ OMIM:603056 a owl:Class ; PMID:9691185 ; RO:0002525 CHR:9606chr2q23.1 ; RO:0003303 OMIM:613800 ; - oboInOwl:hasDbXref UMLS:C1335086 ; oboInOwl:hasExactSynonym "ORC4", "orc4-like", "origin recognition complex, subunit 4", "origin recognition complex, subunit 4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5000 ; - skos:exactMatch HGNC_symbol:ORC4 ; + skos:exactMatch UMLS:C1335086, + HGNC:8490, + HGNC_symbol:ORC4 ; biolink:category biolink:Gene . OMIM:603057 a owl:Class ; @@ -167076,7 +172163,6 @@ OMIM:603057 a owl:Class ; PMID:9199196 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:601390 ; - oboInOwl:hasDbXref UMLS:C1539223 ; oboInOwl:hasExactSynonym "DCHS1", "cadherin 19, formerly", "cadherin, fibroblast, 1", @@ -167085,7 +172171,9 @@ OMIM:603057 a owl:Class ; "protocadherin 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8642 ; - skos:exactMatch HGNC_symbol:DCHS1 ; + skos:exactMatch UMLS:C1539223, + HGNC:13681, + HGNC_symbol:DCHS1 ; biolink:category biolink:Gene . OMIM:603058 a owl:Class ; @@ -167093,14 +172181,15 @@ OMIM:603058 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:9199196 ; - oboInOwl:hasDbXref UMLS:C1418360 ; oboInOwl:hasExactSynonym "PCDHGB4", "cadherin 20, formerly", "cadherin, fibroblast, 2", "protocadherin-gamma, subfamily b, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8641 ; - skos:exactMatch HGNC_symbol:PCDHGB4 ; + skos:exactMatch UMLS:C1418360, + HGNC:8711, + HGNC_symbol:PCDHGB4 ; biolink:category biolink:Gene . OMIM:603059 a owl:Class ; @@ -167109,7 +172198,6 @@ OMIM:603059 a owl:Class ; PMID:11230163, PMID:9199196, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1418348 ; oboInOwl:hasExactSynonym "PCDHGA12", "cadherin 21, formerly", "cadherin, fibroblast, 3", @@ -167118,7 +172206,9 @@ OMIM:603059 a owl:Class ; "protocadherin-gamma, subfamily a, member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26025 ; - skos:exactMatch HGNC_symbol:PCDHGA12 ; + skos:exactMatch UMLS:C1418348, + HGNC:8699, + HGNC_symbol:PCDHGA12 ; biolink:category biolink:Gene . OMIM:603060 a owl:Class ; @@ -167133,14 +172223,15 @@ OMIM:603060 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:611302 ; - oboInOwl:hasDbXref UMLS:C1416632 ; oboInOwl:hasExactSynonym "KIF1C", "kiaa0706", "kinesin family member 1c", "ltxs1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10749 ; - skos:exactMatch HGNC_symbol:KIF1C ; + skos:exactMatch UMLS:C1416632, + HGNC:6317, + HGNC_symbol:KIF1C ; biolink:category biolink:Gene . OMIM:603061 a owl:Class ; @@ -167148,12 +172239,13 @@ OMIM:603061 a owl:Class ; IAO:0000142 PMID:21164013, PMID:21164014, PMID:9653196 ; - oboInOwl:hasDbXref UMLS:C1414411 ; oboInOwl:hasExactSynonym "ENSA", "endosulfine, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2029 ; - skos:exactMatch HGNC_symbol:ENSA ; + skos:exactMatch UMLS:C1414411, + HGNC:3360, + HGNC_symbol:ENSA ; biolink:category biolink:Gene . OMIM:603062 a owl:Class ; @@ -167163,41 +172255,44 @@ OMIM:603062 a owl:Class ; PMID:8443412, PMID:8907712, PMID:9422759 ; - oboInOwl:hasDbXref UMLS:C1423496 ; oboInOwl:hasExactSynonym "TGOLN2", "trans-golgi network protein 2", "trans-golgi network protein, 38-kd, rat, homolog of", "trans-golgi network protein, 46-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10618 ; - skos:exactMatch HGNC_symbol:TGOLN2 ; + skos:exactMatch UMLS:C1423496, + HGNC:15450, + HGNC_symbol:TGOLN2 ; biolink:category biolink:Gene . OMIM:603063 a owl:Class ; rdfs:label "BDH1" ; IAO:0000142 PMID:1639787, PMID:19027726 ; - oboInOwl:hasDbXref UMLS:C1826418 ; oboInOwl:hasExactSynonym "3-hydroxybutyrate dehydrogenase", "3-hydroxybutyrate dehydrogenase 1", "BDH1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:622 ; - skos:exactMatch HGNC_symbol:BDH1 ; + skos:exactMatch UMLS:C1826418, + HGNC:1027, + HGNC_symbol:BDH1 ; biolink:category biolink:Gene . OMIM:603064 a owl:Class ; rdfs:label "UGT2B11" ; IAO:0000142 PMID:8333863, PMID:9675083 ; - oboInOwl:hasDbXref UMLS:C1421337 ; oboInOwl:hasExactSynonym "UGT2B11", "udp glucuronosyltransferase 2 family, member b11", "udp glycosyltransferase 2 family, member b11", "uridine diphosphate glycosyltransferase 2 family, member b11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10720 ; - skos:exactMatch HGNC_symbol:UGT2B11 ; + skos:exactMatch UMLS:C1421337, + HGNC:12545, + HGNC_symbol:UGT2B11 ; biolink:category biolink:Gene . OMIM:603065 a owl:Class ; @@ -167211,7 +172306,6 @@ OMIM:603065 a owl:Class ; PMID:9727070, PMID:9770465, PMID:9784494 ; - oboInOwl:hasDbXref UMLS:C1417826 ; oboInOwl:hasExactSynonym "NR1I2", "nuclear receptor subfamily 1, group i, member 2", "par", @@ -167221,7 +172315,9 @@ OMIM:603065 a owl:Class ; "steroid and xenobiotic receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8856 ; - skos:exactMatch HGNC_symbol:NR1I2 ; + skos:exactMatch UMLS:C1417826, + HGNC:7968, + HGNC_symbol:NR1I2 ; biolink:category biolink:Gene . OMIM:603066 a owl:Class ; @@ -167234,14 +172330,15 @@ OMIM:603066 a owl:Class ; PMID:9724729 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:612394 ; - oboInOwl:hasDbXref UMLS:C1418653 ; oboInOwl:hasExactSynonym "PLOD3", "lysine hydroxylase 3", "lysyl hydroxylase 3", "procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8985 ; - skos:exactMatch HGNC_symbol:PLOD3 ; + skos:exactMatch UMLS:C1418653, + HGNC:9083, + HGNC_symbol:PLOD3 ; biolink:category biolink:Gene . OMIM:603067 a owl:Class ; @@ -167256,13 +172353,14 @@ OMIM:603068 a owl:Class ; PMID:7681221, PMID:7806236, PMID:8107850 ; - oboInOwl:hasDbXref UMLS:C1414184 ; oboInOwl:hasExactSynonym "DUSP2", "dual-specificity phosphatase 2", "phosphatase of activated cells 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1844 ; - skos:exactMatch HGNC_symbol:DUSP2 ; + skos:exactMatch UMLS:C1414184, + HGNC:3068, + HGNC_symbol:DUSP2 ; biolink:category biolink:Gene . OMIM:603069 a owl:Class ; @@ -167272,13 +172370,14 @@ OMIM:603069 a owl:Class ; PMID:7806236, PMID:7836374, PMID:7961985 ; - oboInOwl:hasDbXref UMLS:C1414186 ; oboInOwl:hasExactSynonym "DUSP5", "dual-specificity phosphatase 5", "vh1-like phosphatase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1847 ; - skos:exactMatch HGNC_symbol:DUSP5 ; + skos:exactMatch UMLS:C1414186, + HGNC:3071, + HGNC_symbol:DUSP5 ; biolink:category biolink:Gene . OMIM:603070 a owl:Class ; @@ -167287,13 +172386,14 @@ OMIM:603070 a owl:Class ; PMID:17996711, PMID:9192668, PMID:9396801 ; - oboInOwl:hasDbXref UMLS:C1538778 ; oboInOwl:hasExactSynonym "RAD51AP1", "protein interacting with rad51", "rad51-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10635 ; - skos:exactMatch HGNC_symbol:RAD51AP1 ; + skos:exactMatch UMLS:C1538778, + HGNC:16956, + HGNC_symbol:RAD51AP1 ; biolink:category biolink:Gene . OMIM:603071 a owl:Class ; @@ -167303,12 +172403,13 @@ OMIM:603071 a owl:Class ; PMID:22682251, PMID:8558062, PMID:9523551 ; - oboInOwl:hasDbXref UMLS:C1333691 ; oboInOwl:hasExactSynonym "GPR17", "g protein-coupled receptor 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2840 ; - skos:exactMatch HGNC_symbol:GPR17 ; + skos:exactMatch UMLS:C1333691, + HGNC:4471, + HGNC_symbol:GPR17 ; biolink:category biolink:Gene . OMIM:603073 a owl:Class ; @@ -167329,13 +172430,14 @@ OMIM:603073 a owl:Class ; PMID:9771712 ; RO:0002525 CHR:9606chr13q32.3 ; RO:0003303 OMIM:609637 ; - oboInOwl:hasDbXref UMLS:C1421582 ; oboInOwl:hasExactSynonym "ZIC2", "zic family, member 2", "zinc finger protein of cerebellum 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7546 ; - skos:exactMatch HGNC_symbol:ZIC2 ; + skos:exactMatch UMLS:C1421582, + HGNC:12873, + HGNC_symbol:ZIC2 ; biolink:category biolink:Gene . OMIM:603074 a owl:Class ; @@ -167345,12 +172447,13 @@ OMIM:603074 a owl:Class ; PMID:24555826, PMID:7669037, PMID:9693049 ; - oboInOwl:hasDbXref UMLS:C1418247 ; oboInOwl:hasExactSynonym "PAFAH1B3", "platelet-activating factor acetylhydrolase, isoform 1b, gamma subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5050 ; - skos:exactMatch HGNC_symbol:PAFAH1B3 ; + skos:exactMatch UMLS:C1418247, + HGNC:8576, + HGNC_symbol:PAFAH1B3 ; biolink:category biolink:Gene . OMIM:603076 a owl:Class ; @@ -167363,7 +172466,6 @@ OMIM:603076 a owl:Class ; PMID:8659545, PMID:8703120, PMID:9034316 ; - oboInOwl:hasDbXref UMLS:C1412096 ; oboInOwl:hasExactSynonym "ABCG1", "abc transporter 8", "atp-binding cassette transporter 8", @@ -167371,7 +172473,9 @@ OMIM:603076 a owl:Class ; "white, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9619 ; - skos:exactMatch HGNC_symbol:ABCG1 ; + skos:exactMatch UMLS:C1412096, + HGNC:73, + HGNC_symbol:ABCG1 ; biolink:category biolink:Gene . OMIM:603077 a owl:Class ; @@ -167391,28 +172495,30 @@ OMIM:603078 a owl:Class ; PMID:18243098, PMID:9278511, PMID:9382850 ; - oboInOwl:hasDbXref UMLS:C1332753 ; oboInOwl:hasExactSynonym "CHEK1", "cell cycle checkpoint kinase", "checkpoint kinase 1", "checkpoint, s. pombe, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1111 ; - skos:exactMatch HGNC_symbol:CHEK1 ; + skos:exactMatch UMLS:C1332753, + HGNC:1925, + HGNC_symbol:CHEK1 ; biolink:category biolink:Gene . OMIM:603079 a owl:Class ; rdfs:label "CBX4" ; IAO:0000142 PMID:12679040, PMID:9315667 ; - oboInOwl:hasDbXref UMLS:C1413159 ; oboInOwl:hasExactSynonym "CBX4", "chromobox 4", "chromobox homolog 4, drosophila polycomb class", "polycomb, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8535 ; - skos:exactMatch HGNC_symbol:CBX4 ; + skos:exactMatch UMLS:C1413159, + HGNC:1554, + HGNC_symbol:CBX4 ; biolink:category biolink:Gene . OMIM:603080 a owl:Class ; @@ -167420,25 +172526,27 @@ OMIM:603080 a owl:Class ; IAO:0000142 PMID:1370453, PMID:7589472, PMID:7861179 ; - oboInOwl:hasDbXref UMLS:C1420209 ; oboInOwl:hasExactSynonym "SLC6A12", "betaine/gaba transporter 1", "gaba transporter 2, mouse, homolog of", "solute carrier family 6 (neurotransmitter transporter, betaine/gaba), member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6539 ; - skos:exactMatch HGNC_symbol:SLC6A12 ; + skos:exactMatch UMLS:C1420209, + HGNC:11045, + HGNC_symbol:SLC6A12 ; biolink:category biolink:Gene . OMIM:603081 a owl:Class ; rdfs:label "ADPRH" ; IAO:0000142 PMID:8349667 ; - oboInOwl:hasDbXref UMLS:C1412252 ; oboInOwl:hasExactSynonym "ADPRH", "adp-ribosylarginine hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:141 ; - skos:exactMatch HGNC_symbol:ADPRH ; + skos:exactMatch UMLS:C1412252, + HGNC:269, + HGNC_symbol:ADPRH ; biolink:category biolink:Gene . OMIM:603082 a owl:Class ; @@ -167452,14 +172560,15 @@ OMIM:603084 a owl:Class ; PMID:2674137 ; RO:0002525 CHR:9606chr2q21.3 ; RO:0003303 OMIM:615281 ; - oboInOwl:hasDbXref UMLS:C1413909 ; oboInOwl:hasExactSynonym "DARS1", "aspartyl-trna synthetase 1", "asprs", "dars" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1615 ; - skos:exactMatch HGNC_symbol:DARS1 ; + skos:exactMatch UMLS:C1413909, + HGNC:2678, + HGNC_symbol:DARS1 ; biolink:category biolink:Gene . OMIM:603085 a owl:Class ; @@ -167472,13 +172581,14 @@ OMIM:603085 a owl:Class ; PMID:12034741, PMID:16501047, PMID:9207117 ; - oboInOwl:hasDbXref UMLS:C1420182 ; oboInOwl:hasExactSynonym "SLC31A1", "copper transporter 1", "solute carrier family 31 (copper transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1317 ; - skos:exactMatch HGNC_symbol:SLC31A1 ; + skos:exactMatch UMLS:C1420182, + HGNC:11016, + HGNC_symbol:SLC31A1 ; biolink:category biolink:Gene . OMIM:603086 a owl:Class ; @@ -167486,12 +172596,13 @@ OMIM:603086 a owl:Class ; IAO:0000142 PMID:12070318, PMID:8605984, PMID:9119374 ; - oboInOwl:hasDbXref UMLS:C1412564 ; oboInOwl:hasExactSynonym "ART3", "adp-ribosyltransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:419 ; - skos:exactMatch HGNC_symbol:ART3 ; + skos:exactMatch UMLS:C1412564, + HGNC:725, + HGNC_symbol:ART3 ; biolink:category biolink:Gene . OMIM:603087 a owl:Class ; @@ -167501,13 +172612,14 @@ OMIM:603087 a owl:Class ; OMIM:603088 a owl:Class ; rdfs:label "SLC31A2" ; IAO:0000142 PMID:9207117 ; - oboInOwl:hasDbXref UMLS:C1420183 ; oboInOwl:hasExactSynonym "SLC31A2", "copper transporter 2", "solute carrier family 31 (copper transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1318 ; - skos:exactMatch HGNC_symbol:SLC31A2 ; + skos:exactMatch UMLS:C1420183, + HGNC:11017, + HGNC_symbol:SLC31A2 ; biolink:category biolink:Gene . OMIM:603089 a owl:Class ; @@ -167529,13 +172641,14 @@ OMIM:603089 a owl:Class ; PMID:9528852 ; RO:0002525 CHR:9606chr3p21.1 ; RO:0003303 OMIM:614327 ; - oboInOwl:hasDbXref UMLS:C1332380, - UMLS:C3280492 ; oboInOwl:hasExactSynonym "BAP1", "brca1-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8314 ; - skos:exactMatch HGNC_symbol:BAP1 ; + skos:exactMatch UMLS:C1332380, + UMLS:C3280492, + HGNC:950, + HGNC_symbol:BAP1 ; biolink:category biolink:Gene . OMIM:603090 a owl:Class ; @@ -167548,12 +172661,13 @@ OMIM:603090 a owl:Class ; PMID:2530630, PMID:2539853, PMID:9233788 ; - oboInOwl:hasDbXref UMLS:C1421311 ; oboInOwl:hasExactSynonym "UCHL3", "ubiquitin carboxyl-terminal esterase l3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7347 ; - skos:exactMatch HGNC_symbol:UCHL3 ; + skos:exactMatch UMLS:C1421311, + HGNC:12515, + HGNC_symbol:UCHL3 ; biolink:category biolink:Gene . OMIM:603091 a owl:Class ; @@ -167563,41 +172677,44 @@ OMIM:603091 a owl:Class ; PMID:24056413, PMID:27373336, PMID:9615226 ; - oboInOwl:hasDbXref UMLS:C1421389 ; oboInOwl:hasExactSynonym "USP12", "ubiquitin-hydrolyzing enzyme 1", "ubiquitin-specific protease 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219333 ; - skos:exactMatch HGNC_symbol:USP12 ; + skos:exactMatch UMLS:C1421389, + HGNC:20485, + HGNC_symbol:USP12 ; biolink:category biolink:Gene . OMIM:603092 a owl:Class ; rdfs:label "DUSP11" ; IAO:0000142 PMID:19228121, PMID:9685386 ; - oboInOwl:hasDbXref UMLS:C1414182 ; oboInOwl:hasExactSynonym "DUSP11", "dual-specificity phosphatase 11", "phosphatase that interacts with rna/rnp complex 1", "rna/rnp complex-interacting phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8446 ; - skos:exactMatch HGNC_symbol:DUSP11 ; + skos:exactMatch UMLS:C1414182, + HGNC:3066, + HGNC_symbol:DUSP11 ; biolink:category biolink:Gene . OMIM:603093 a owl:Class ; rdfs:label "B3GALT1" ; IAO:0000142 PMID:9417047, PMID:9582303 ; - oboInOwl:hasDbXref UMLS:C1412711 ; oboInOwl:hasExactSynonym "B3GALT1", "beta-3-galactosyltransferase 1", "beta-3-galt1", "udp-gal:beta-glcnac beta-1,3-galactosyltransferase, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8708 ; - skos:exactMatch HGNC_symbol:B3GALT1 ; + skos:exactMatch UMLS:C1412711, + HGNC:916, + HGNC_symbol:B3GALT1 ; biolink:category biolink:Gene . OMIM:603094 a owl:Class ; @@ -167613,7 +172730,6 @@ OMIM:603094 a owl:Class ; PMID:9582303 ; RO:0002525 CHR:9606chr3q26.1 ; RO:0003303 OMIM:615021 ; - oboInOwl:hasDbXref UMLS:C1825854 ; oboInOwl:hasExactSynonym "B3GALNT1", "beta-1,3-n-acetylgalactosaminyltransferase 1", "beta-3-galactosyltransferase 3", @@ -167626,21 +172742,24 @@ OMIM:603094 a owl:Class ; "udp-gal:beta-glcnac beta-1,3-galactosyltransferase, polypeptide 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8706 ; - skos:exactMatch HGNC_symbol:B3GALNT1 ; + skos:exactMatch UMLS:C1825854, + HGNC:918, + HGNC_symbol:B3GALNT1 ; biolink:category biolink:Gene . OMIM:603095 a owl:Class ; rdfs:label "B3GALT4" ; IAO:0000142 PMID:10663566, PMID:9582303 ; - oboInOwl:hasDbXref UMLS:C1412714 ; oboInOwl:hasExactSynonym "B3GALT4", "beta-3-galactosyltransferase 4", "beta-3-galt4", "udp-gal:beta-glcnac beta-1,3-galactosyltransferase, polypeptide 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8705 ; - skos:exactMatch HGNC_symbol:B3GALT4 ; + skos:exactMatch UMLS:C1412714, + HGNC:919, + HGNC_symbol:B3GALT4 ; biolink:category biolink:Gene . OMIM:603096 a owl:Class ; @@ -167652,7 +172771,6 @@ OMIM:603097 a owl:Class ; IAO:0000142 PMID:20670834, PMID:2147024, PMID:8250920 ; - oboInOwl:hasDbXref UMLS:C1412676 ; oboInOwl:hasExactSynonym "ATP6V1C1", "atpase, h+ transporting, lysosomal, 42-kd, v1 subunit c, isoform 1", "atpase, h+ transporting, lysosomal, subunit c", @@ -167661,7 +172779,9 @@ OMIM:603097 a owl:Class ; "vacuolar proton pump, 42-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:528 ; - skos:exactMatch HGNC_symbol:ATP6V1C1 ; + skos:exactMatch UMLS:C1412676, + HGNC:856, + HGNC_symbol:ATP6V1C1 ; biolink:category biolink:Gene . OMIM:603099 a owl:Class ; @@ -167669,14 +172789,15 @@ OMIM:603099 a owl:Class ; IAO:0000142 PMID:9212163, PMID:9291118, PMID:9461603 ; - oboInOwl:hasDbXref UMLS:C1412281 ; oboInOwl:hasExactSynonym "1-acylglycerol-3-phosphate o-acyltransferase 1", "AGPAT1", "lpaat-alpha", "lysophosphatidic acid acyltransferase-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10554 ; - skos:exactMatch HGNC_symbol:AGPAT1 ; + skos:exactMatch UMLS:C1412281, + HGNC:324, + HGNC_symbol:AGPAT1 ; biolink:category biolink:Gene . OMIM:603101 a owl:Class ; @@ -167690,14 +172811,15 @@ OMIM:603101 a owl:Class ; PMID:8195249, PMID:8975730, PMID:9869166 ; - oboInOwl:hasDbXref UMLS:C1413666 ; oboInOwl:hasExactSynonym "CPB2", "carboxypeptidase b2, plasma", "carboxypeptidase u", "thrombin-activatable fibrinolysis inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1361 ; - skos:exactMatch HGNC_symbol:CPB2 ; + skos:exactMatch UMLS:C1413666, + HGNC:2300, + HGNC_symbol:CPB2 ; biolink:category biolink:Gene . OMIM:603102 a owl:Class ; @@ -167711,13 +172833,14 @@ OMIM:603102 a owl:Class ; PMID:9628828, PMID:9714835, PMID:9733850 ; - oboInOwl:hasDbXref UMLS:C1413667 ; oboInOwl:hasExactSynonym "CPD", "carboxypeptidase d", "glycoprotein, 180-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1362 ; - skos:exactMatch HGNC_symbol:CPD ; + skos:exactMatch UMLS:C1413667, + HGNC:2301, + HGNC_symbol:CPD ; biolink:category biolink:Gene . OMIM:603103 a owl:Class ; @@ -167729,7 +172852,6 @@ OMIM:603103 a owl:Class ; PMID:9628828 ; RO:0002525 CHR:9606chr10q24.2 ; RO:0003303 OMIM:212070 ; - oboInOwl:hasDbXref UMLS:C1413673 ; oboInOwl:hasExactSynonym "CPN1", "anaphylatoxin inactivator", "carboxypeptidase b, serum", @@ -167740,31 +172862,35 @@ OMIM:603103 a owl:Class ; "serum carboxypeptidase n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1369 ; - skos:exactMatch HGNC_symbol:CPN1 ; + skos:exactMatch UMLS:C1413673, + HGNC:2312, + HGNC_symbol:CPN1 ; biolink:category biolink:Gene . OMIM:603104 a owl:Class ; rdfs:label "CPN2" ; IAO:0000142 PMID:2378615, PMID:8794383 ; - oboInOwl:hasDbXref UMLS:C1413674 ; oboInOwl:hasExactSynonym "CPN2", "carboxypeptidase n, polypeptide 2, 83-kd", "carboxypeptidase n, regulatory subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1370 ; - skos:exactMatch HGNC_symbol:CPN2 ; + skos:exactMatch UMLS:C1413674, + HGNC:2313, + HGNC_symbol:CPN2 ; biolink:category biolink:Gene . OMIM:603105 a owl:Class ; rdfs:label "CPZ" ; IAO:0000142 PMID:9099699 ; - oboInOwl:hasDbXref UMLS:C1413693 ; oboInOwl:hasExactSynonym "CPZ", "carboxypeptidase z" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8532 ; - skos:exactMatch HGNC_symbol:CPZ ; + skos:exactMatch UMLS:C1413693, + HGNC:2333, + HGNC_symbol:CPZ ; biolink:category biolink:Gene . OMIM:603106 a owl:Class ; @@ -167774,12 +172900,13 @@ OMIM:603106 a owl:Class ; PMID:8813377, PMID:9331332, PMID:9691180 ; - oboInOwl:hasDbXref UMLS:C1417747 ; oboInOwl:hasExactSynonym "NNAT", "neuronatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4826 ; - skos:exactMatch HGNC_symbol:NNAT ; + skos:exactMatch UMLS:C1417747, + HGNC:7860, + HGNC_symbol:NNAT ; biolink:category biolink:Gene . OMIM:603107 a owl:Class ; @@ -167793,14 +172920,15 @@ OMIM:603107 a owl:Class ; PMID:9730594 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:618430 ; - oboInOwl:hasDbXref UMLS:C1420637 ; oboInOwl:hasExactSynonym "TCF20", "spre-binding protein", "stromelysin 1 pdgf-responsive element-binding protein", "transcription factor 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6942 ; - skos:exactMatch HGNC_symbol:TCF20 ; + skos:exactMatch UMLS:C1420637, + HGNC:11631, + HGNC_symbol:TCF20 ; biolink:category biolink:Gene . OMIM:603108 a owl:Class ; @@ -167812,14 +172940,15 @@ OMIM:603108 a owl:Class ; PMID:21820309, PMID:7606712, PMID:9724749 ; - oboInOwl:hasDbXref UMLS:C1334483 ; oboInOwl:hasExactSynonym "MAPRE1", "adenomatous polyposis coli-binding protein eb1", "end-binding protein 1", "microtubule-associated protein, rp/eb family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22919 ; - skos:exactMatch HGNC_symbol:MAPRE1 ; + skos:exactMatch UMLS:C1334483, + HGNC:6890, + HGNC_symbol:MAPRE1 ; biolink:category biolink:Gene . OMIM:603109 a owl:Class ; @@ -167854,15 +172983,16 @@ OMIM:603109 a owl:Class ; PMID:9753318 ; RO:0002525 CHR:9606chr15q22.33 ; RO:0003303 OMIM:613795 ; - oboInOwl:hasDbXref UMLS:C0919432, - UMLS:C3151087 ; oboInOwl:hasExactSynonym "SMAD3", "mothers against decapentaplegic, drosophila, homolog of, 3", "sma- and mad-related protein 3", "smad family member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4088 ; - skos:exactMatch HGNC_symbol:SMAD3 ; + skos:exactMatch UMLS:C0919432, + UMLS:C3151087, + HGNC:6769, + HGNC_symbol:SMAD3 ; biolink:category biolink:Gene . OMIM:603110 a owl:Class ; @@ -167872,14 +173002,15 @@ OMIM:603110 a owl:Class ; PMID:8673135, PMID:9484787, PMID:9490674 ; - oboInOwl:hasDbXref UMLS:C1416963 ; oboInOwl:hasExactSynonym "SMAD5", "mothers against decapentaplegic, drosophila, homolog of, 5", "sma- and mad-related protein 5", "smad family member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4090 ; - skos:exactMatch HGNC_symbol:SMAD5 ; + skos:exactMatch UMLS:C1416963, + HGNC:6771, + HGNC_symbol:SMAD5 ; biolink:category biolink:Gene . OMIM:603111 a owl:Class ; @@ -167891,13 +173022,14 @@ OMIM:603111 a owl:Class ; PMID:9435219 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:607174 ; - oboInOwl:hasDbXref UMLS:C1335850 ; oboInOwl:hasExactSynonym "SMARCE1", "brg1-associated factor, 57-kd", "swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily e, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6605 ; - skos:exactMatch HGNC_symbol:SMARCE1 ; + skos:exactMatch UMLS:C1335850, + HGNC:11109, + HGNC_symbol:SMARCE1 ; biolink:category biolink:Gene . OMIM:603112 a owl:Class ; @@ -167910,7 +173042,6 @@ OMIM:603112 a owl:Class ; PMID:8619876, PMID:8769108, PMID:8985590 ; - oboInOwl:hasDbXref UMLS:C1335796 ; oboInOwl:hasExactSynonym "S100A12", "calcium-binding protein 1n amniotic fluid", "calgranulin c", @@ -167920,7 +173051,9 @@ OMIM:603112 a owl:Class ; "s100 calcium-binding protein a12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6283 ; - skos:exactMatch HGNC_symbol:S100A12 ; + skos:exactMatch UMLS:C1335796, + HGNC:10489, + HGNC_symbol:S100A12 ; biolink:category biolink:Gene . OMIM:603113 a owl:Class ; @@ -167933,13 +173066,14 @@ OMIM:603113 a owl:Class ; PMID:9795170 ; RO:0002525 CHR:9606chr11q23.1 ; RO:0003303 OMIM:211980 ; - oboInOwl:hasDbXref UMLS:C1335243 ; oboInOwl:hasExactSynonym "PPP2R1B", "pp2aa-beta", "protein phosphatase 2, structural/regulatory subunit a, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5519 ; - skos:exactMatch HGNC_symbol:PPP2R1B ; + skos:exactMatch UMLS:C1335243, + HGNC:9303, + HGNC_symbol:PPP2R1B ; biolink:category biolink:Gene . OMIM:603114 a owl:Class ; @@ -167952,14 +173086,15 @@ OMIM:603114 a owl:Class ; PMID:7591220, PMID:7889529, PMID:8985590 ; - oboInOwl:hasDbXref UMLS:C1335795 ; oboInOwl:hasExactSynonym "S100A11", "calgizzarin", "s100 calcium-binding protein a11", "s100c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6282 ; - skos:exactMatch HGNC_symbol:S100A11 ; + skos:exactMatch UMLS:C1335795, + HGNC:10488, + HGNC_symbol:S100A11 ; biolink:category biolink:Gene . OMIM:603115 a owl:Class ; @@ -167973,7 +173108,6 @@ OMIM:603115 a owl:Class ; PMID:8690889, PMID:9111062, PMID:9480750 ; - oboInOwl:hasDbXref UMLS:C1413966 ; oboInOwl:hasExactSynonym "DHX9", "RNA helicase a", "dead/h-box 9", @@ -167982,14 +173116,16 @@ OMIM:603115 a owl:Class ; "nuclear DNA helicase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1660 ; - skos:exactMatch HGNC_symbol:DHX9 ; + skos:exactMatch UMLS:C1413966, + HGNC:2750, + HGNC_symbol:DHX9 ; biolink:category biolink:Gene . OMIM:603117 a owl:Class ; rdfs:label "spastic paraplegia, optic atrophy, microcephaly, and 10y sex reversal" ; IAO:0000142 PMID:9733035 ; - oboInOwl:hasDbXref UMLS:C1864185 ; - oboInOwl:hasExactSynonym "spastic paraplegia, optic atrophy, microcephaly, and 10y sex reversal" . + oboInOwl:hasExactSynonym "spastic paraplegia, optic atrophy, microcephaly, and 10y sex reversal" ; + skos:exactMatch UMLS:C1864185 . OMIM:603118 a owl:Class ; rdfs:label "CDH16" ; @@ -167997,21 +173133,22 @@ OMIM:603118 a owl:Class ; PMID:26355662, PMID:7615566, PMID:9721215 ; - oboInOwl:hasDbXref UMLS:C1413273 ; oboInOwl:hasExactSynonym "CDH16", "cadherin 16", "cadherin, kidney", "ksp-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1014 ; - skos:exactMatch HGNC_symbol:CDH16 ; + skos:exactMatch UMLS:C1413273, + HGNC:1755, + HGNC_symbol:CDH16 ; biolink:category biolink:Gene . OMIM:603119 a owl:Class ; rdfs:label "apraxia of eyelid opening" ; IAO:0000142 PMID:9635470 ; - oboInOwl:hasDbXref UMLS:C1864184 ; - oboInOwl:hasExactSynonym "apraxia of eyelid opening" . + oboInOwl:hasExactSynonym "apraxia of eyelid opening" ; + skos:exactMatch UMLS:C1864184 . OMIM:603120 a owl:Class ; rdfs:label "QSOX1" ; @@ -168020,14 +173157,15 @@ OMIM:603120 a owl:Class ; PMID:23704371, PMID:8396966, PMID:9878249 ; - oboInOwl:hasDbXref UMLS:C1419185 ; oboInOwl:hasExactSynonym "QSOX1", "q6", "quiescin q6", "quiescin q6 sulfhydryl oxidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5768 ; - skos:exactMatch HGNC_symbol:QSOX1 ; + skos:exactMatch UMLS:C1419185, + HGNC:9756, + HGNC_symbol:QSOX1 ; biolink:category biolink:Gene . OMIM:603121 a owl:Class ; @@ -168045,12 +173183,13 @@ OMIM:603122 a owl:Class ; PMID:9039502 ; RO:0002525 CHR:9606chr5q35.1 ; RO:0003303 OMIM:616433 ; - oboInOwl:hasDbXref UMLS:C1414128 ; oboInOwl:hasExactSynonym "DOCK2", "dedicator of cytokinesis 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1794 ; - skos:exactMatch HGNC_symbol:DOCK2 ; + skos:exactMatch UMLS:C1414128, + HGNC:2988, + HGNC_symbol:DOCK2 ; biolink:category biolink:Gene . OMIM:603123 a owl:Class ; @@ -168063,14 +173202,15 @@ OMIM:603123 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr3p21.2 ; RO:0003303 OMIM:618292 ; - oboInOwl:hasDbXref UMLS:C1414129, - UMLS:C4749014 ; oboInOwl:hasExactSynonym "DOCK3", "dedicator of cytokinesis 3", "modifier of cell adhesion" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1795 ; - skos:exactMatch HGNC_symbol:DOCK3 ; + skos:exactMatch UMLS:C1414129, + UMLS:C4749014, + HGNC:2989, + HGNC_symbol:DOCK3 ; biolink:category biolink:Gene . OMIM:603124 a owl:Class ; @@ -168078,13 +173218,14 @@ OMIM:603124 a owl:Class ; IAO:0000142 PMID:17310145, PMID:9693041, PMID:9925943 ; - oboInOwl:hasDbXref UMLS:C1421281 ; oboInOwl:hasExactSynonym "UBE2G2", "ubc7, s. cerevisiae, homolog of", "ubiquitin-conjugating enzyme e2g 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7327 ; - skos:exactMatch HGNC_symbol:UBE2G2 ; + skos:exactMatch UMLS:C1421281, + HGNC:12483, + HGNC_symbol:UBE2G2 ; biolink:category biolink:Gene . OMIM:603125 a owl:Class ; @@ -168093,24 +173234,26 @@ OMIM:603125 a owl:Class ; PMID:12032733, PMID:9501187, PMID:9736702 ; - oboInOwl:hasDbXref UMLS:C1420880 ; oboInOwl:hasExactSynonym "TPST1", "tyrosylprotein sulfotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8460 ; - skos:exactMatch HGNC_symbol:TPST1 ; + skos:exactMatch UMLS:C1420880, + HGNC:12020, + HGNC_symbol:TPST1 ; biolink:category biolink:Gene . OMIM:603126 a owl:Class ; rdfs:label "TPST2" ; IAO:0000142 PMID:9501187, PMID:9736702 ; - oboInOwl:hasDbXref UMLS:C1420881 ; oboInOwl:hasExactSynonym "TPST2", "tyrosylprotein sulfotransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8459 ; - skos:exactMatch HGNC_symbol:TPST2 ; + skos:exactMatch UMLS:C1420881, + HGNC:12021, + HGNC_symbol:TPST2 ; biolink:category biolink:Gene . OMIM:603127 a owl:Class ; @@ -168118,12 +173261,13 @@ OMIM:603127 a owl:Class ; IAO:0000142 PMID:10706619, PMID:7626897, PMID:9736752 ; - oboInOwl:hasDbXref UMLS:C1414992 ; oboInOwl:hasExactSynonym "GAS7", "growth arrest-specific 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8522 ; - skos:exactMatch HGNC_symbol:GAS7 ; + skos:exactMatch UMLS:C1414992, + HGNC:4169, + HGNC_symbol:GAS7 ; biolink:category biolink:Gene . OMIM:603128 a owl:Class ; @@ -168135,13 +173279,14 @@ OMIM:603128 a owl:Class ; PMID:23778139, PMID:8812055, PMID:9199934 ; - oboInOwl:hasDbXref UMLS:C1420067 ; oboInOwl:hasExactSynonym "SIM1", "sim bhlh transcription factor 1", "single-minded, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6492 ; - skos:exactMatch HGNC_symbol:SIM1 ; + skos:exactMatch UMLS:C1420067, + HGNC:10882, + HGNC_symbol:SIM1 ; biolink:category biolink:Gene . OMIM:603129 a owl:Class ; @@ -168154,12 +173299,13 @@ OMIM:603129 a owl:Class ; PMID:12906853, PMID:15897450, PMID:9736723 ; - oboInOwl:hasDbXref UMLS:C1416883 ; oboInOwl:hasExactSynonym "LMO4", "lim domain only 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8543 ; - skos:exactMatch HGNC_symbol:LMO4 ; + skos:exactMatch UMLS:C1416883, + HGNC:6644, + HGNC_symbol:LMO4 ; biolink:category biolink:Gene . OMIM:603130 a owl:Class ; @@ -168170,13 +173316,14 @@ OMIM:603130 a owl:Class ; PMID:11137996, PMID:11394875, PMID:9736737 ; - oboInOwl:hasDbXref UMLS:C1412696 ; oboInOwl:hasExactSynonym "ATRN", "attractin", "mahogany, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8455 ; - skos:exactMatch HGNC_symbol:ATRN ; + skos:exactMatch UMLS:C1412696, + HGNC:885, + HGNC_symbol:ATRN ; biolink:category biolink:Gene . OMIM:603131 a owl:Class ; @@ -168189,31 +173336,33 @@ OMIM:603131 a owl:Class ; PMID:9700204 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:617954 ; - oboInOwl:hasDbXref UMLS:C1418678 ; oboInOwl:hasExactSynonym "PMPCB", "mitochondrial processing peptidase-beta", "peptidase, mitochondrial processing, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9512 ; - skos:exactMatch HGNC_symbol:PMPCB ; + skos:exactMatch UMLS:C1418678, + HGNC:9119, + HGNC_symbol:PMPCB ; biolink:category biolink:Gene . OMIM:603132 a owl:Class ; rdfs:label "ZNF189" ; IAO:0000142 PMID:9653648 ; - oboInOwl:hasDbXref UMLS:C1421678 ; oboInOwl:hasExactSynonym "ZNF189", "zinc finger protein 189" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7743 ; - skos:exactMatch HGNC_symbol:ZNF189 ; + skos:exactMatch UMLS:C1421678, + HGNC:12980, + HGNC_symbol:ZNF189 ; biolink:category biolink:Gene . OMIM:603133 a owl:Class ; rdfs:label "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation" ; IAO:0000142 PMID:9733034 ; - oboInOwl:hasDbXref UMLS:C1864183 ; - oboInOwl:hasExactSynonym "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation" . + oboInOwl:hasExactSynonym "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation" ; + skos:exactMatch UMLS:C1864183 . OMIM:603134 a owl:Class ; rdfs:label "CUL1" ; @@ -168230,12 +173379,13 @@ OMIM:603134 a owl:Class ; PMID:9663463, PMID:9736735, PMID:9990852 ; - oboInOwl:hasDbXref UMLS:C1332809 ; oboInOwl:hasExactSynonym "CUL1", "cullin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8454 ; - skos:exactMatch HGNC_symbol:CUL1 ; + skos:exactMatch UMLS:C1332809, + HGNC:2551, + HGNC_symbol:CUL1 ; biolink:category biolink:Gene . OMIM:603135 a owl:Class ; @@ -168248,12 +173398,13 @@ OMIM:603135 a owl:Class ; PMID:9122164, PMID:9447969, PMID:9663463 ; - oboInOwl:hasDbXref UMLS:C1332810 ; oboInOwl:hasExactSynonym "CUL2", "cullin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8453 ; - skos:exactMatch HGNC_symbol:CUL2 ; + skos:exactMatch UMLS:C1332810, + HGNC:2552, + HGNC_symbol:CUL2 ; biolink:category biolink:Gene . OMIM:603136 a owl:Class ; @@ -168281,13 +173432,14 @@ OMIM:603136 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr2q36.2 ; RO:0003303 OMIM:614496 ; - oboInOwl:hasDbXref UMLS:C1332811, - UMLS:C3469606 ; oboInOwl:hasExactSynonym "CUL3", "cullin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8452 ; - skos:exactMatch HGNC_symbol:CUL3 ; + skos:exactMatch UMLS:C1332811, + UMLS:C3469606, + HGNC:2553, + HGNC_symbol:CUL3 ; biolink:category biolink:Gene . OMIM:603137 a owl:Class ; @@ -168305,12 +173457,13 @@ OMIM:603137 a owl:Class ; PMID:9663463, PMID:9694792, PMID:9721878 ; - oboInOwl:hasDbXref UMLS:C1332812 ; oboInOwl:hasExactSynonym "CUL4A", "cullin 4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8451 ; - skos:exactMatch HGNC_symbol:CUL4A ; + skos:exactMatch UMLS:C1332812, + HGNC:2554, + HGNC_symbol:CUL4A ; biolink:category biolink:Gene . OMIM:603138 a owl:Class ; @@ -168327,7 +173480,6 @@ OMIM:603139 a owl:Class ; PMID:9869296, PMID:9878245, PMID:9933569 ; - oboInOwl:hasDbXref UMLS:C1419232 ; oboInOwl:hasExactSynonym "RAD17", "rad17 checkpoint clamp loader component", "rad17, s. pombe, homolog of", @@ -168335,7 +173487,9 @@ OMIM:603139 a owl:Class ; "rad24, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5884 ; - skos:exactMatch HGNC_symbol:RAD17 ; + skos:exactMatch UMLS:C1419232, + HGNC:9807, + HGNC_symbol:RAD17 ; biolink:category biolink:Gene . OMIM:603140 a owl:Class ; @@ -168343,94 +173497,101 @@ OMIM:603140 a owl:Class ; IAO:0000142 PMID:7639683, PMID:7852364, PMID:9367159 ; - oboInOwl:hasDbXref UMLS:C1335219 ; oboInOwl:hasExactSynonym "PIP4K2A", "phosphatidylinositol 4-phosphate 5-kinase, iia ii, alpha", "phosphatidylinositol 5-phosphate 4-kinase, iia ii, alpha", "phosphatidylinositol 5-phosphate 4-kinase, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5305 ; - skos:exactMatch HGNC_symbol:PIP4K2A ; + skos:exactMatch UMLS:C1335219, + HGNC:8997, + HGNC_symbol:PIP4K2A ; biolink:category biolink:Gene . OMIM:603141 a owl:Class ; rdfs:label "PPFIBP1" ; IAO:0000142 PMID:9624153 ; - oboInOwl:hasDbXref UMLS:C1418789 ; oboInOwl:hasExactSynonym "PPFIBP1", "liprin-beta-1", "protein-tyrosine phosphatase, receptor-type, f polypeptide-interacting protein-binding protein 1", "ptprf-interacting protein-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8496 ; - skos:exactMatch HGNC_symbol:PPFIBP1 ; + skos:exactMatch UMLS:C1418789, + HGNC:9249, + HGNC_symbol:PPFIBP1 ; biolink:category biolink:Gene . OMIM:603142 a owl:Class ; rdfs:label "PPFIBP2" ; IAO:0000142 PMID:9624153 ; - oboInOwl:hasDbXref UMLS:C1418790 ; oboInOwl:hasExactSynonym "PPFIBP2", "liprin-beta-2", "protein-tyrosine phosphatase, receptor-type, f polypeptide-interacting protein-binding protein 2", "ptprf-interacting protein-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8495 ; - skos:exactMatch HGNC_symbol:PPFIBP2 ; + skos:exactMatch UMLS:C1418790, + HGNC:9250, + HGNC_symbol:PPFIBP2 ; biolink:category biolink:Gene . OMIM:603143 a owl:Class ; rdfs:label "PPFIA2" ; IAO:0000142 PMID:30021165, PMID:9624153 ; - oboInOwl:hasDbXref UMLS:C1418786 ; oboInOwl:hasExactSynonym "PPFIA2", "liprin-alpha-2", "protein-tyrosine phosphatase, receptor-type, f polypeptide-interacting protein alpha-2", "ptprf-interacting protein alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8499 ; - skos:exactMatch HGNC_symbol:PPFIA2 ; + skos:exactMatch UMLS:C1418786, + HGNC:9246, + HGNC_symbol:PPFIA2 ; biolink:category biolink:Gene . OMIM:603144 a owl:Class ; rdfs:label "PPFIA3" ; IAO:0000142 PMID:9624153, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1418787 ; oboInOwl:hasExactSynonym "PPFIA3", "liprin-alpha-3", "protein-tyrosine phosphatase, receptor-type, f polypeptide-interacting protein alpha 3", "ptprf-interacting protein alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8541 ; - skos:exactMatch HGNC_symbol:PPFIA3 ; + skos:exactMatch UMLS:C1418787, + HGNC:9247, + HGNC_symbol:PPFIA3 ; biolink:category biolink:Gene . OMIM:603145 a owl:Class ; rdfs:label "PPFIA4" ; IAO:0000142 PMID:9624153 ; - oboInOwl:hasDbXref UMLS:C1418788 ; oboInOwl:hasExactSynonym "PPFIA4", "liprin-alpha-4", "protein-tyrosine phosphatase, receptor-type, f polypeptide-interacting protein alpha 4", "ptprf-interacting protein alpha-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8497 ; - skos:exactMatch HGNC_symbol:PPFIA4 ; + skos:exactMatch UMLS:C1418788, + HGNC:9248, + HGNC_symbol:PPFIA4 ; biolink:category biolink:Gene . OMIM:603146 a owl:Class ; rdfs:label "PSMD9" ; IAO:0000142 PMID:10567574, PMID:9653651 ; - oboInOwl:hasDbXref UMLS:C1419040 ; oboInOwl:hasExactSynonym "PSMD9", "bridge 1, rat, homolog of", "proteasome 26s subunit, non-atpase, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5715 ; - skos:exactMatch HGNC_symbol:PSMD9 ; + skos:exactMatch UMLS:C1419040, + HGNC:9567, + HGNC_symbol:PSMD9 ; biolink:category biolink:Gene . OMIM:603148 a owl:Class ; @@ -168445,12 +173606,13 @@ OMIM:603148 a owl:Class ; PMID:2516827, PMID:29670287, PMID:7515060 ; - oboInOwl:hasDbXref UMLS:C1412616 ; oboInOwl:hasExactSynonym "ATF3", "activating transcription factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:467 ; - skos:exactMatch HGNC_symbol:ATF3 ; + skos:exactMatch UMLS:C1412616, + HGNC:785, + HGNC_symbol:ATF3 ; biolink:category biolink:Gene . OMIM:603149 a owl:Class ; @@ -168508,14 +173670,15 @@ OMIM:603149 a owl:Class ; PMID:7499828, PMID:8390535, PMID:8877732 ; - oboInOwl:hasDbXref UMLS:C1825592 ; oboInOwl:hasExactSynonym "IL17A", "cytotoxic t-lymphocyte-associated serine esterase 8", "il17", "interleukin 17a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3605 ; - skos:exactMatch HGNC_symbol:IL17A ; + skos:exactMatch UMLS:C1825592, + HGNC:5981, + HGNC_symbol:IL17A ; biolink:category biolink:Gene . OMIM:603150 a owl:Class ; @@ -168525,8 +173688,6 @@ OMIM:603150 a owl:Class ; PMID:7599212 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:618120 ; - oboInOwl:hasDbXref UMLS:C1412658, - UMLS:C4748269 ; oboInOwl:hasExactSynonym "ATP5F1D", "atp synthase f1, subunit delta", "atp synthase, h+ transporting, mitochondrial f1 complex, delta subunit", @@ -168534,7 +173695,10 @@ OMIM:603150 a owl:Class ; "mitochondrial atp synthase, delta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:513 ; - skos:exactMatch HGNC_symbol:ATP5F1D ; + skos:exactMatch UMLS:C1412658, + UMLS:C4748269, + HGNC:837, + HGNC_symbol:ATP5F1D ; biolink:category biolink:Gene . OMIM:603151 a owl:Class ; @@ -168545,13 +173709,14 @@ OMIM:603151 a owl:Class ; PMID:17803907, PMID:20671153, PMID:8037772 ; - oboInOwl:hasDbXref UMLS:C1539749 ; oboInOwl:hasExactSynonym "SEPT7", "cell division cycle 10", "septin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:989 ; - skos:exactMatch HGNC_symbol:SEPTIN7 ; + skos:exactMatch UMLS:C1539749, + HGNC:1717, + HGNC_symbol:SEPTIN7 ; biolink:category biolink:Gene . OMIM:603152 a owl:Class ; @@ -168559,7 +173724,6 @@ OMIM:603152 a owl:Class ; IAO:0000142 PMID:1825642, PMID:1830479, PMID:9732751 ; - oboInOwl:hasDbXref UMLS:C1412668 ; oboInOwl:hasExactSynonym "ATP5PF", "atp synthase peripheral stalk, subunit f6", "atp synthase, h+ transporting, mitochondrial fo complex, subunit f6", @@ -168568,7 +173732,9 @@ OMIM:603152 a owl:Class ; "mitochondrial atp synthase, subunit f6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:522 ; - skos:exactMatch HGNC_symbol:ATP5PF ; + skos:exactMatch UMLS:C1412668, + HGNC:847, + HGNC_symbol:ATP5PF ; biolink:category biolink:Gene . OMIM:603153 a owl:Class ; @@ -168577,13 +173743,14 @@ OMIM:603153 a owl:Class ; PMID:9705507, PMID:9872989, PMID:9878245 ; - oboInOwl:hasDbXref UMLS:C1419231 ; oboInOwl:hasExactSynonym "RAD1", "rad1 checkpoint DNA exonuclease", "rad1, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5810 ; - skos:exactMatch HGNC_symbol:RAD1 ; + skos:exactMatch UMLS:C1419231, + HGNC:9806, + HGNC_symbol:RAD1 ; biolink:category biolink:Gene . OMIM:603154 a owl:Class ; @@ -168593,13 +173760,14 @@ OMIM:603154 a owl:Class ; PMID:8922384, PMID:9447706, PMID:9628316 ; - oboInOwl:hasDbXref UMLS:C1418715 ; oboInOwl:hasExactSynonym "PNN", "drs", "pinin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5411 ; - skos:exactMatch HGNC_symbol:PNN ; + skos:exactMatch UMLS:C1418715, + HGNC:9162, + HGNC_symbol:PNN ; biolink:category biolink:Gene . OMIM:603155 a owl:Class ; @@ -168609,13 +173777,14 @@ OMIM:603155 a owl:Class ; PMID:7733990 ; RO:0002525 CHR:9606chr1q32.3-q41 ; RO:0003303 OMIM:613611 ; - oboInOwl:hasDbXref UMLS:C1419097 ; oboInOwl:hasExactSynonym "PTPN14", "phosphatase with ezrin domain", "protein-tyrosine phosphatase, nonreceptor-type, 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5784 ; - skos:exactMatch HGNC_symbol:PTPN14 ; + skos:exactMatch UMLS:C1419097, + HGNC:9647, + HGNC_symbol:PTPN14 ; biolink:category biolink:Gene . OMIM:603156 a owl:Class ; @@ -168624,7 +173793,6 @@ OMIM:603156 a owl:Class ; PMID:2393862, PMID:7759552, PMID:9721218 ; - oboInOwl:hasDbXref UMLS:C1332436 ; oboInOwl:hasExactSynonym "BPHL", "biphenyl hydrolase-like", "breast epithelial mucin-associated antigen", @@ -168632,7 +173800,9 @@ OMIM:603156 a owl:Class ; "valacyclovirase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:670 ; - skos:exactMatch HGNC_symbol:BPHL ; + skos:exactMatch UMLS:C1332436, + HGNC:1094, + HGNC_symbol:BPHL ; biolink:category biolink:Gene . OMIM:603157 a owl:Class ; @@ -168649,8 +173819,6 @@ OMIM:603157 a owl:Class ; PMID:9582025 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:603387 ; - oboInOwl:hasDbXref UMLS:C1418577, - UMLS:C1864177 ; oboInOwl:hasExactSynonym "PIK3R2", "p85-beta", "phosphatidylinositol 3-kinase, regulatory subunit 2", @@ -168658,7 +173826,10 @@ OMIM:603157 a owl:Class ; "pik3r2/ups8 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5296 ; - skos:exactMatch HGNC_symbol:PIK3R2 ; + skos:exactMatch UMLS:C1418577, + UMLS:C1864177, + HGNC:8980, + HGNC_symbol:PIK3R2 ; biolink:category biolink:Gene . OMIM:603158 a owl:Class ; @@ -168675,26 +173846,28 @@ OMIM:603158 a owl:Class ; PMID:9582025 ; RO:0002525 CHR:9606chr15q21.2 ; RO:0003303 OMIM:219090 ; - oboInOwl:hasDbXref UMLS:C1336848, - UMLS:C1864176 ; oboInOwl:hasExactSynonym "USP8", "deubiquitinating enzyme humorf8", "ubiquitin-specific protease 8", "usp8/pik3r2 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9101 ; - skos:exactMatch HGNC_symbol:USP8 ; + skos:exactMatch UMLS:C1336848, + UMLS:C1864176, + HGNC:12631, + HGNC_symbol:USP8 ; biolink:category biolink:Gene . OMIM:603159 a owl:Class ; rdfs:label "LRP3" ; IAO:0000142 PMID:9693042 ; - oboInOwl:hasDbXref UMLS:C1416915 ; oboInOwl:hasExactSynonym "LRP3", "low density lipoprotein receptor-related protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4037 ; - skos:exactMatch HGNC_symbol:LRP3 ; + skos:exactMatch UMLS:C1416915, + HGNC:6695, + HGNC_symbol:LRP3 ; biolink:category biolink:Gene . OMIM:603160 a owl:Class ; @@ -168702,26 +173875,28 @@ OMIM:603160 a owl:Class ; IAO:0000142 PMID:11041856, PMID:9457681, PMID:9676430 ; - oboInOwl:hasDbXref UMLS:C1414417 ; oboInOwl:hasExactSynonym "ENTPD6", "cd39-like 2", "ectonucleoside triphosphate diphosphohydrolase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:955 ; - skos:exactMatch HGNC_symbol:ENTPD6 ; + skos:exactMatch UMLS:C1414417, + HGNC:3368, + HGNC_symbol:ENTPD6 ; biolink:category biolink:Gene . OMIM:603161 a owl:Class ; rdfs:label "ENTPD3" ; IAO:0000142 PMID:17727821, PMID:9676430 ; - oboInOwl:hasDbXref UMLS:C1414414 ; oboInOwl:hasExactSynonym "ENTPD3", "cd39-like 3", "ectonucleoside triphosphate diphosphohydrolase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:956 ; - skos:exactMatch HGNC_symbol:ENTPD3 ; + skos:exactMatch UMLS:C1414414, + HGNC:3365, + HGNC_symbol:ENTPD3 ; biolink:category biolink:Gene . OMIM:603162 a owl:Class ; @@ -168731,13 +173906,14 @@ OMIM:603162 a owl:Class ; PMID:21074248, PMID:9457681, PMID:9676430 ; - oboInOwl:hasDbXref UMLS:C1414416 ; oboInOwl:hasExactSynonym "ENTPD5", "cd39-like 4", "ectonucleoside triphosphate diphosphohydrolase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:957 ; - skos:exactMatch HGNC_symbol:ENTPD5 ; + skos:exactMatch UMLS:C1414416, + HGNC:3367, + HGNC_symbol:ENTPD5 ; biolink:category biolink:Gene . OMIM:603163 a owl:Class ; @@ -168745,13 +173921,14 @@ OMIM:603163 a owl:Class ; IAO:0000142 PMID:16188469, PMID:9516475, PMID:9660755 ; - oboInOwl:hasDbXref UMLS:C1864175 ; oboInOwl:hasExactSynonym "SCRG1", "scrapie-responsive gene 1", "stimulator of chondrogenesis 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11341 ; - skos:exactMatch HGNC_symbol:SCRG1 ; + skos:exactMatch UMLS:C1864175, + HGNC:17036, + HGNC_symbol:SCRG1 ; biolink:category biolink:Gene . OMIM:603164 a owl:Class ; @@ -168766,13 +173943,14 @@ OMIM:603164 a owl:Class ; PMID:9657383 ; RO:0002525 CHR:9606chr6q24.2 ; RO:0003303 OMIM:614882 ; - oboInOwl:hasDbXref UMLS:C1418477 ; oboInOwl:hasExactSynonym "PEX3", "peroxin 3", "peroxisome biogenesis factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8504 ; - skos:exactMatch HGNC_symbol:PEX3 ; + skos:exactMatch UMLS:C1418477, + HGNC:8858, + HGNC_symbol:PEX3 ; biolink:category biolink:Gene . OMIM:603166 a owl:Class ; @@ -168781,14 +173959,15 @@ OMIM:603166 a owl:Class ; PMID:7515885, PMID:8643544, PMID:9253601 ; - oboInOwl:hasDbXref UMLS:C1417019 ; oboInOwl:hasExactSynonym "MAP4K2", "germinal center kinase", "mitogen-activated protein kinase kinase kinase kinase 2", "rab8-interacting protein, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5871 ; - skos:exactMatch HGNC_symbol:MAP4K2 ; + skos:exactMatch UMLS:C1417019, + HGNC:6864, + HGNC_symbol:MAP4K2 ; biolink:category biolink:Gene . OMIM:603167 a owl:Class ; @@ -168800,7 +173979,6 @@ OMIM:603167 a owl:Class ; PMID:7834748, PMID:8929532, PMID:9388232 ; - oboInOwl:hasDbXref UMLS:C1366450 ; oboInOwl:hasExactSynonym "BAD", "bcl2 antagonist", "bcl2-associated agonist of cell death", @@ -168808,7 +173986,9 @@ OMIM:603167 a owl:Class ; "bcl2-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:572 ; - skos:exactMatch HGNC_symbol:BAD ; + skos:exactMatch UMLS:C1366450, + HGNC:936, + HGNC_symbol:BAD ; biolink:category biolink:Gene . OMIM:603168 a owl:Class ; @@ -168821,7 +174001,6 @@ OMIM:603168 a owl:Class ; PMID:27485354, PMID:31780625, PMID:9693035 ; - oboInOwl:hasDbXref UMLS:C1421350 ; oboInOwl:hasExactSynonym "ULK1", "unc51, c. elegans, homolog of", "unc51-like autophagy-activating kinase 1", @@ -168829,7 +174008,9 @@ OMIM:603168 a owl:Class ; "unc51.1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8408 ; - skos:exactMatch HGNC_symbol:ULK1 ; + skos:exactMatch UMLS:C1421350, + HGNC:12558, + HGNC_symbol:ULK1 ; biolink:category biolink:Gene . OMIM:603169 a owl:Class ; @@ -168837,12 +174018,13 @@ OMIM:603169 a owl:Class ; IAO:0000142 PMID:11030415, PMID:18420963, PMID:9642240 ; - oboInOwl:hasDbXref UMLS:C1332808 ; oboInOwl:hasExactSynonym "CTSZ", "cathepsin z" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1522 ; - skos:exactMatch HGNC_symbol:CTSZ ; + skos:exactMatch UMLS:C1332808, + HGNC:2547, + HGNC_symbol:CTSZ ; biolink:category biolink:Gene . OMIM:603170 a owl:Class ; @@ -168851,14 +174033,15 @@ OMIM:603170 a owl:Class ; PMID:10379887, PMID:9148898, PMID:9889009 ; - oboInOwl:hasDbXref UMLS:C1420681 ; oboInOwl:hasExactSynonym "TEAD3", "tea domain family member 3", "tea domain family member 5, formerly", "transcriptional enhancer factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7005 ; - skos:exactMatch HGNC_symbol:TEAD3 ; + skos:exactMatch UMLS:C1420681, + HGNC:11716, + HGNC_symbol:TEAD3 ; biolink:category biolink:Gene . OMIM:603171 a owl:Class ; @@ -168876,12 +174059,13 @@ OMIM:603171 a owl:Class ; PMID:8395831, PMID:9353319, PMID:9694792 ; - oboInOwl:hasDbXref UMLS:C1417663 ; oboInOwl:hasExactSynonym "NEDD8", "neural precursor cell expressed, developmentally downregulated 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4738 ; - skos:exactMatch HGNC_symbol:NEDD8 ; + skos:exactMatch UMLS:C1417663, + HGNC:7732, + HGNC_symbol:NEDD8 ; biolink:category biolink:Gene . OMIM:603172 a owl:Class ; @@ -168892,14 +174076,15 @@ OMIM:603172 a owl:Class ; PMID:17220875, PMID:19360080, PMID:9694792 ; - oboInOwl:hasDbXref UMLS:C1421269 ; oboInOwl:hasExactSynonym "UBA3", "ubiquitin-activating enzyme 3, s. cerevisiae, homolog of", "ubiquitin-activating enzyme e1c", "ubiquitin-like modifier-activating enzyme 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9039 ; - skos:exactMatch HGNC_symbol:UBA3 ; + skos:exactMatch UMLS:C1421269, + HGNC:12470, + HGNC_symbol:UBA3 ; biolink:category biolink:Gene . OMIM:603173 a owl:Class ; @@ -168907,13 +174092,14 @@ OMIM:603173 a owl:Class ; IAO:0000142 PMID:17220875, PMID:21940857, PMID:9694792 ; - oboInOwl:hasDbXref UMLS:C1421289 ; oboInOwl:hasExactSynonym "UBE2M", "ubiquitin-conjugating enzyme 12, s. cerevisiae, homolog of", "ubiquitin-conjugating enzyme e2m" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9040 ; - skos:exactMatch HGNC_symbol:UBE2M ; + skos:exactMatch UMLS:C1421289, + HGNC:12491, + HGNC_symbol:UBE2M ; biolink:category biolink:Gene . OMIM:603174 a owl:Class ; @@ -168963,8 +174149,8 @@ OMIM:603174 a owl:Class ; PMID:947949, PMID:9535664, PMID:9535670 ; - oboInOwl:hasDbXref UMLS:C3495426 ; - oboInOwl:hasExactSynonym "hyperhomocysteinemia" . + oboInOwl:hasExactSynonym "hyperhomocysteinemia" ; + skos:exactMatch UMLS:C3495426 . OMIM:603175 a owl:Class ; rdfs:label "schizophrenia 5" ; @@ -168975,11 +174161,11 @@ OMIM:603175 a owl:Class ; PMID:9226366 ; RO:0002525 CHR:9606chr6q13-q26 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1864153 ; oboInOwl:hasExactSynonym "SCZD5", "schizophrenia 5", "schizophrenia 5 with or without an affective disorder", "schizophrenia susceptibility locus, chromosome 6q-related" ; + skos:exactMatch UMLS:C1864153 ; biolink:category biolink:Disease . OMIM:603177 a owl:Class ; @@ -168993,14 +174179,15 @@ OMIM:603177 a owl:Class ; PMID:9553086, PMID:9614193, PMID:9878266 ; - oboInOwl:hasDbXref UMLS:C1421423 ; oboInOwl:hasExactSynonym "VAMP8", "endobrevin", "synaptobrevin-like, endosome-associated", "vesicle-associated membrane protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8673 ; - skos:exactMatch HGNC_symbol:VAMP8 ; + skos:exactMatch UMLS:C1421423, + HGNC:12647, + HGNC_symbol:VAMP8 ; biolink:category biolink:Gene . OMIM:603178 a owl:Class ; @@ -169015,14 +174202,15 @@ OMIM:603178 a owl:Class ; PMID:3939535 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:614105 ; - oboInOwl:hasDbXref UMLS:C1417216, - UMLS:C3279840 ; oboInOwl:hasExactSynonym "ALDH6A1", "aldehyde dehydrogenase 6 family, member a1", "methylmalonate semialdehyde dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4329 ; - skos:exactMatch HGNC_symbol:ALDH6A1 ; + skos:exactMatch UMLS:C1417216, + UMLS:C3279840, + HGNC:7179, + HGNC_symbol:ALDH6A1 ; biolink:category biolink:Gene . OMIM:603179 a owl:Class ; @@ -169032,14 +174220,15 @@ OMIM:603179 a owl:Class ; PMID:8673298, PMID:9770531, PMID:9787087 ; - oboInOwl:hasDbXref UMLS:C1413052 ; oboInOwl:hasExactSynonym "CA9", "ca 9", "carbonic anhydrase 9", "membrane antigen mn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:768 ; - skos:exactMatch HGNC_symbol:CA9 ; + skos:exactMatch UMLS:C1413052, + HGNC:1383, + HGNC_symbol:CA9 ; biolink:category biolink:Gene . OMIM:603180 a owl:Class ; @@ -169047,25 +174236,27 @@ OMIM:603180 a owl:Class ; IAO:0000142 PMID:19680239, PMID:9512417, PMID:9660920 ; - oboInOwl:hasDbXref UMLS:C1421545 ; oboInOwl:hasExactSynonym "XPOT", "exportin, trna", "exportin-t" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11260 ; - skos:exactMatch HGNC_symbol:XPOT ; + skos:exactMatch UMLS:C1421545, + HGNC:12826, + HGNC_symbol:XPOT ; biolink:category biolink:Gene . OMIM:603181 a owl:Class ; rdfs:label "ILF2" ; IAO:0000142 PMID:7519613 ; - oboInOwl:hasDbXref UMLS:C1416419 ; oboInOwl:hasExactSynonym "ILF2", "interleukin enhancer-binding factor 2", "nuclear factor of activated t cells, 45-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3608 ; - skos:exactMatch HGNC_symbol:ILF2 ; + skos:exactMatch UMLS:C1416419, + HGNC:6037, + HGNC_symbol:ILF2 ; biolink:category biolink:Gene . OMIM:603182 a owl:Class ; @@ -169079,7 +174270,6 @@ OMIM:603182 a owl:Class ; PMID:18337511, PMID:7519613, PMID:8885239 ; - oboInOwl:hasDbXref UMLS:C1416420 ; oboInOwl:hasExactSynonym "ILF3", "double-stranded rna-binding protein, 76-kd", "interleukin enhancer-binding factor 3", @@ -169088,7 +174278,9 @@ OMIM:603182 a owl:Class ; "nuclear factor of activated t cells, 90-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3609 ; - skos:exactMatch HGNC_symbol:ILF3 ; + skos:exactMatch UMLS:C1416420, + HGNC:6038, + HGNC_symbol:ILF3 ; biolink:category biolink:Gene . OMIM:603183 a owl:Class ; @@ -169101,13 +174293,14 @@ OMIM:603183 a owl:Class ; PMID:9693037 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:604805 ; - oboInOwl:hasDbXref UMLS:C1419769 ; oboInOwl:hasExactSynonym "RTN2", "neuroendocrine-specific protein-like 1", "reticulon 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6253 ; - skos:exactMatch HGNC_symbol:RTN2 ; + skos:exactMatch UMLS:C1419769, + HGNC:10468, + HGNC_symbol:RTN2 ; biolink:category biolink:Gene . OMIM:603184 a owl:Class ; @@ -169122,27 +174315,29 @@ OMIM:603184 a owl:Class ; PMID:8274451 ; RO:0002525 CHR:9606chr13q12.13 ; RO:0003303 OMIM:618748 ; - oboInOwl:hasDbXref UMLS:C1413289, - UMLS:C5231489 ; oboInOwl:hasExactSynonym "CDK8", "cyclin-dependent kinase 8", "k35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1024 ; - skos:exactMatch HGNC_symbol:CDK8 ; + skos:exactMatch UMLS:C1413289, + UMLS:C5231489, + HGNC:1779, + HGNC_symbol:CDK8 ; biolink:category biolink:Gene . OMIM:603185 a owl:Class ; rdfs:label "NASP" ; IAO:0000142 PMID:1426632, PMID:29733298 ; - oboInOwl:hasDbXref UMLS:C1417601 ; oboInOwl:hasExactSynonym "NASP", "n1/n2, xenopus, homolog of", "nuclear autoantigenic sperm protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4678 ; - skos:exactMatch HGNC_symbol:NASP ; + skos:exactMatch UMLS:C1417601, + HGNC:7644, + HGNC_symbol:NASP ; biolink:category biolink:Gene . OMIM:603186 a owl:Class ; @@ -169162,53 +174357,57 @@ OMIM:603186 a owl:Class ; PMID:9407001, PMID:9545376, PMID:9743501 ; - oboInOwl:hasDbXref UMLS:C1333203 ; oboInOwl:hasExactSynonym "DAXX", "bing2", "death-associated protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1616 ; - skos:exactMatch HGNC_symbol:DAXX ; + skos:exactMatch UMLS:C1333203, + HGNC:2681, + HGNC_symbol:DAXX ; biolink:category biolink:Gene . OMIM:603187 a owl:Class ; rdfs:label "CETN1" ; IAO:0000142 PMID:8175926 ; - oboInOwl:hasDbXref UMLS:C1413350 ; oboInOwl:hasExactSynonym "CETN1", "cen1", "centrin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1068 ; - skos:exactMatch HGNC_symbol:CETN1 ; + skos:exactMatch UMLS:C1413350, + HGNC:1866, + HGNC_symbol:CETN1 ; biolink:category biolink:Gene . OMIM:603189 a owl:Class ; rdfs:label "STX5" ; IAO:0000142 PMID:11001058, PMID:9188044 ; - oboInOwl:hasDbXref UMLS:C1823143 ; oboInOwl:hasExactSynonym "STX5", "sed5", "stx5a", "syntaxin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6811 ; - skos:exactMatch HGNC_symbol:STX5 ; + skos:exactMatch UMLS:C1823143, + HGNC:11440, + HGNC_symbol:STX5 ; biolink:category biolink:Gene . OMIM:603190 a owl:Class ; rdfs:label "PRMT3" ; IAO:0000142 PMID:19300908, PMID:9642256 ; - oboInOwl:hasDbXref UMLS:C1826699 ; oboInOwl:hasExactSynonym "PRMT3", "heterogeneous nuclear ribonucleoprotein methyltransferase 1-like 3", "hmt1-like 3", "protein arginine methyltransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10196 ; - skos:exactMatch HGNC_symbol:PRMT3 ; + skos:exactMatch UMLS:C1826699, + HGNC:30163, + HGNC_symbol:PRMT3 ; biolink:category biolink:Gene . OMIM:603191 a owl:Class ; @@ -169226,13 +174425,14 @@ OMIM:603191 a owl:Class ; PMID:9465297 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:602271 ; - oboInOwl:hasDbXref UMLS:C1412946 ; oboInOwl:hasExactSynonym "CFAP410", "chromosome 21 open reading frame 2", "cilia- and flagella-associated protein 410" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:755 ; - skos:exactMatch HGNC_symbol:CFAP410 ; + skos:exactMatch UMLS:C1412946, + HGNC:1260, + HGNC_symbol:CFAP410 ; biolink:category biolink:Gene . OMIM:603192 a owl:Class ; @@ -169240,14 +174440,15 @@ OMIM:603192 a owl:Class ; IAO:0000142 PMID:7599212, PMID:7698763, PMID:8328972 ; - oboInOwl:hasDbXref UMLS:C1412662 ; oboInOwl:hasExactSynonym "ATP5G1", "atp synthase, h+ transporting, mitochondrial fo complex, subunit c, isoform 1", "mitochondrial atp synthase, subunit 9, isoform 1", "mitochondrial atp synthase, subunit c, isoform 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:516 ; - skos:exactMatch HGNC_symbol:ATP5MC1 ; + skos:exactMatch UMLS:C1412662, + HGNC:841, + HGNC_symbol:ATP5MC1 ; biolink:category biolink:Gene . OMIM:603193 a owl:Class ; @@ -169255,25 +174456,27 @@ OMIM:603193 a owl:Class ; IAO:0000142 PMID:7599212, PMID:7698763, PMID:8328972 ; - oboInOwl:hasDbXref UMLS:C1412663 ; oboInOwl:hasExactSynonym "ATP5G2", "atp synthase, h+ transporting, mitochondrial fo complex, subunit c, isoform 2", "mitochondrial atp synthase, subunit 9, isoform 2", "mitochondrial atp synthase, subunit c, isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:517 ; - skos:exactMatch HGNC_symbol:ATP5MC2 ; + skos:exactMatch UMLS:C1412663, + HGNC:842, + HGNC_symbol:ATP5MC2 ; biolink:category biolink:Gene . OMIM:603195 a owl:Class ; rdfs:label "GPR32" ; IAO:0000142 PMID:9653656 ; - oboInOwl:hasDbXref UMLS:C1333693 ; oboInOwl:hasExactSynonym "GPR32", "g protein-coupled receptor 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2854 ; - skos:exactMatch HGNC_symbol:GPR32 ; + skos:exactMatch UMLS:C1333693, + HGNC:4487, + HGNC_symbol:GPR32 ; biolink:category biolink:Gene . OMIM:603196 a owl:Class ; @@ -169299,14 +174502,15 @@ OMIM:603196 a owl:Class ; PMID:9931344 ; RO:0002525 CHR:9606chr14q12 ; RO:0003303 OMIM:601369 ; - oboInOwl:hasDbXref UMLS:C1413565 ; oboInOwl:hasExactSynonym "COCH", "coagulation factor c homology", "coch5b2", "cochlin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1690 ; - skos:exactMatch HGNC_symbol:COCH ; + skos:exactMatch UMLS:C1413565, + HGNC:2180, + HGNC_symbol:COCH ; biolink:category biolink:Gene . OMIM:603197 a owl:Class ; @@ -169325,14 +174529,15 @@ OMIM:603197 a owl:Class ; PMID:9576844 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:612020 ; - oboInOwl:hasDbXref UMLS:C1826637 ; oboInOwl:hasExactSynonym "PNPLA6", "neuropathy target esterase", "neurotoxic esterase", "patatin-like phospholipase domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10908 ; - skos:exactMatch HGNC_symbol:PNPLA6 ; + skos:exactMatch UMLS:C1826637, + HGNC:16268, + HGNC_symbol:PNPLA6 ; biolink:category biolink:Gene . OMIM:603198 a owl:Class ; @@ -169350,14 +174555,15 @@ OMIM:603198 a owl:Class ; PMID:9582279 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:613327 ; - oboInOwl:hasDbXref UMLS:C1419128 ; oboInOwl:hasExactSynonym "CAVIN1", "RNA polymerase 1 and transcript release factor", "caveolae-associated protein 1", "cavin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284119 ; - skos:exactMatch HGNC_symbol:CAVIN1 ; + skos:exactMatch UMLS:C1419128, + HGNC:9688, + HGNC_symbol:CAVIN1 ; biolink:category biolink:Gene . OMIM:603199 a owl:Class ; @@ -169369,7 +174575,6 @@ OMIM:603199 a owl:Class ; PMID:15738264, PMID:7826638, PMID:9280290 ; - oboInOwl:hasDbXref UMLS:C1537407 ; oboInOwl:hasExactSynonym "PATJ", "inad, drosophila, homolog of", "inad-like", @@ -169377,7 +174582,9 @@ OMIM:603199 a owl:Class ; "patj, crumbs cell polarity complex component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10207 ; - skos:exactMatch HGNC_symbol:PATJ ; + skos:exactMatch UMLS:C1537407, + HGNC:28881, + HGNC_symbol:PATJ ; biolink:category biolink:Gene . OMIM:603200 a owl:Class ; @@ -169396,13 +174603,14 @@ OMIM:603200 a owl:Class ; PMID:9806546 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:209920 ; - oboInOwl:hasDbXref UMLS:C1419364, - UMLS:C1859535 ; oboInOwl:hasExactSynonym "RFXANK", "regulatory factor x, ankyrin repeat-containing" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8625 ; - skos:exactMatch HGNC_symbol:RFXANK ; + skos:exactMatch UMLS:C1419364, + UMLS:C1859535, + HGNC:9987, + HGNC_symbol:RFXANK ; biolink:category biolink:Gene . OMIM:603201 a owl:Class ; @@ -169416,14 +174624,15 @@ OMIM:603201 a owl:Class ; PMID:9806540 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:601847 ; - oboInOwl:hasDbXref UMLS:C1412070 ; oboInOwl:hasExactSynonym "ABCB11", "atp-binding cassette, subfamily b, member 11", "bile salt export pump", "sister of p-glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8647 ; - skos:exactMatch HGNC_symbol:ABCB11 ; + skos:exactMatch UMLS:C1412070, + HGNC:42, + HGNC_symbol:ABCB11 ; biolink:category biolink:Gene . OMIM:603202 a owl:Class ; @@ -169447,46 +174656,48 @@ OMIM:603202 a owl:Class ; PMID:9803265 ; RO:0002525 CHR:9606chr2q21.3 ; RO:0003303 OMIM:223000 ; - oboInOwl:hasDbXref UMLS:C1416808 ; oboInOwl:hasExactSynonym "LCT", "lac", "lactase", "lactase-phlorizin hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3938 ; - skos:exactMatch HGNC_symbol:LCT ; + skos:exactMatch UMLS:C1416808, + HGNC:6530, + HGNC_symbol:LCT ; biolink:category biolink:Gene . OMIM:603203 a owl:Class ; rdfs:label "CCNG2" ; IAO:0000142 PMID:8626390, PMID:8806701 ; - oboInOwl:hasDbXref UMLS:C1413180 ; oboInOwl:hasExactSynonym "CCNG2", "cyclin g2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:901 ; - skos:exactMatch HGNC_symbol:CCNG2 ; + skos:exactMatch UMLS:C1413180, + HGNC:1593, + HGNC_symbol:CCNG2 ; biolink:category biolink:Gene . OMIM:603205 a owl:Class ; rdfs:label "MORC1" ; IAO:0000142 PMID:10369865, PMID:9826705 ; - oboInOwl:hasDbXref UMLS:C1826265 ; oboInOwl:hasExactSynonym "MORC1", "microrchidia, mouse, homolog of", "morc family cw-type zinc finger protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27136 ; - skos:exactMatch HGNC_symbol:MORC1 ; + skos:exactMatch UMLS:C1826265, + HGNC:7198, + HGNC_symbol:MORC1 ; biolink:category biolink:Gene . OMIM:603207 a owl:Class ; rdfs:label "VTI1B" ; IAO:0000142 PMID:18033301, PMID:9446565 ; - oboInOwl:hasDbXref UMLS:C1425080 ; oboInOwl:hasExactSynonym "VTI1B", "vesicle transport through interaction with t-snares 1b", "vti1", @@ -169494,7 +174705,9 @@ OMIM:603207 a owl:Class ; "vti1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10490 ; - skos:exactMatch HGNC_symbol:VTI1B ; + skos:exactMatch UMLS:C1425080, + HGNC:17793, + HGNC_symbol:VTI1B ; biolink:category biolink:Gene . OMIM:603208 a owl:Class ; @@ -169511,13 +174724,14 @@ OMIM:603208 a owl:Class ; PMID:9878260 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:193230 ; - oboInOwl:hasDbXref UMLS:C1416580 ; oboInOwl:hasExactSynonym "KCNJ13", "inwardly rectifying potassium channel kir7.1", "potassium channel, inwardly rectifying, subfamily j, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3769 ; - skos:exactMatch HGNC_symbol:KCNJ13 ; + skos:exactMatch UMLS:C1416580, + HGNC:6259, + HGNC_symbol:KCNJ13 ; biolink:category biolink:Gene . OMIM:603210 a owl:Class ; @@ -169527,27 +174741,29 @@ OMIM:603210 a owl:Class ; PMID:7550318, PMID:9169517, PMID:9675132 ; - oboInOwl:hasDbXref UMLS:C1416531 ; oboInOwl:hasExactSynonym "JRK", "jerky, mouse, homolog of", "jh8", "jrk helix-turn-helix protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8629 ; - skos:exactMatch HGNC_symbol:JRK ; + skos:exactMatch UMLS:C1416531, + HGNC:6199, + HGNC_symbol:JRK ; biolink:category biolink:Gene . OMIM:603211 a owl:Class ; rdfs:label "JRKL" ; IAO:0000142 PMID:9240447 ; - oboInOwl:hasDbXref UMLS:C1416532 ; oboInOwl:hasExactSynonym "JRKL", "hhmjg", "jerky, mouse, homolog-like", "jrk-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8690 ; - skos:exactMatch HGNC_symbol:JRKL ; + skos:exactMatch UMLS:C1416532, + HGNC:6200, + HGNC_symbol:JRKL ; biolink:category biolink:Gene . OMIM:603212 a owl:Class ; @@ -169563,7 +174779,6 @@ OMIM:603212 a owl:Class ; PMID:8636093 ; RO:0002525 CHR:9606chr3q22.1 ; RO:0003303 OMIM:611597 ; - oboInOwl:hasDbXref UMLS:C1412790 ; oboInOwl:hasExactSynonym "BFSP2", "beaded filament structural protein 2", "beaded filament structural protein, 49-kd", @@ -169573,7 +174788,9 @@ OMIM:603212 a owl:Class ; "phakosin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8419 ; - skos:exactMatch HGNC_symbol:BFSP2 ; + skos:exactMatch UMLS:C1412790, + HGNC:1041, + HGNC_symbol:BFSP2 ; biolink:category biolink:Gene . OMIM:603213 a owl:Class ; @@ -169591,7 +174808,6 @@ OMIM:603213 a owl:Class ; PMID:9790757 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:603546 ; - oboInOwl:hasDbXref UMLS:C1416696 ; oboInOwl:hasExactSynonym "KIF22", "kinesin family member 22", "kinesin-like 4", @@ -169600,7 +174816,9 @@ OMIM:603213 a owl:Class ; "orip-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3835 ; - skos:exactMatch HGNC_symbol:KIF22 ; + skos:exactMatch UMLS:C1416696, + HGNC:6391, + HGNC_symbol:KIF22 ; biolink:category biolink:Gene . OMIM:603214 a owl:Class ; @@ -169613,7 +174831,6 @@ OMIM:603214 a owl:Class ; PMID:9599016 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:614857 ; - oboInOwl:hasDbXref UMLS:C1412091 ; oboInOwl:hasExactSynonym "ABCD4", "atp-binding cassette, subfamily d, member 4", "p70r", @@ -169621,7 +174838,9 @@ OMIM:603214 a owl:Class ; "pmp69" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5826 ; - skos:exactMatch HGNC_symbol:ABCD4 ; + skos:exactMatch UMLS:C1412091, + HGNC:68, + HGNC_symbol:ABCD4 ; biolink:category biolink:Gene . OMIM:603215 a owl:Class ; @@ -169632,7 +174851,6 @@ OMIM:603215 a owl:Class ; PMID:15980433, PMID:8455721, PMID:9269766 ; - oboInOwl:hasDbXref UMLS:C1417599 ; oboInOwl:hasExactSynonym "NAPA", "n-ethylmaleimide-sensitive factor attachment protein, alpha", "nsf attachment protein alpha", @@ -169640,14 +174858,15 @@ OMIM:603215 a owl:Class ; "soluble nsf-attachment protein, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8775 ; - skos:exactMatch HGNC_symbol:NAPA ; + skos:exactMatch UMLS:C1417599, + HGNC:7641, + HGNC_symbol:NAPA ; biolink:category biolink:Gene . OMIM:603216 a owl:Class ; rdfs:label "NAPG" ; IAO:0000142 PMID:8455721, PMID:9269766 ; - oboInOwl:hasDbXref UMLS:C1417600 ; oboInOwl:hasExactSynonym "NAPG", "n-ethylmaleimide-sensitive factor attachment protein, gamma", "nsf attachment protein gamma", @@ -169655,19 +174874,22 @@ OMIM:603216 a owl:Class ; "soluble nsf-attachment protein, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8774 ; - skos:exactMatch HGNC_symbol:NAPG ; + skos:exactMatch UMLS:C1417600, + HGNC:7642, + HGNC_symbol:NAPG ; biolink:category biolink:Gene . OMIM:603217 a owl:Class ; rdfs:label "STX7" ; IAO:0000142 PMID:12218144, PMID:9358037 ; - oboInOwl:hasDbXref UMLS:C1420504 ; oboInOwl:hasExactSynonym "STX7", "syntaxin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8417 ; - skos:exactMatch HGNC_symbol:STX7 ; + skos:exactMatch UMLS:C1420504, + HGNC:11442, + HGNC_symbol:STX7 ; biolink:category biolink:Gene . OMIM:603219 a owl:Class ; @@ -169681,14 +174903,15 @@ OMIM:603219 a owl:Class ; PMID:9003761, PMID:9687497, PMID:9721223 ; - oboInOwl:hasDbXref UMLS:C1416595 ; oboInOwl:hasExactSynonym "KCNK2", "potassium channel, subfamily k, member 2", "trek1", "twik-related k+ channel" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3776 ; - skos:exactMatch HGNC_symbol:KCNK2 ; + skos:exactMatch UMLS:C1416595, + HGNC:6277, + HGNC_symbol:KCNK2 ; biolink:category biolink:Gene . OMIM:603220 a owl:Class ; @@ -169704,15 +174927,16 @@ OMIM:603220 a owl:Class ; PMID:9721223 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:615344 ; - oboInOwl:hasDbXref UMLS:C1416596, - UMLS:C3809198 ; oboInOwl:hasExactSynonym "KCNK3", "potassium channel, subfamily k, member 3", "task1", "twik-related acid-sensitive k+ channel" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3777 ; - skos:exactMatch HGNC_symbol:KCNK3 ; + skos:exactMatch UMLS:C1416596, + UMLS:C3809198, + HGNC:6278, + HGNC_symbol:KCNK3 ; biolink:category biolink:Gene . OMIM:603222 a owl:Class ; @@ -169720,13 +174944,14 @@ OMIM:603222 a owl:Class ; IAO:0000142 PMID:7985025, PMID:8559254, PMID:9387929 ; - oboInOwl:hasDbXref UMLS:C1822798 ; oboInOwl:hasExactSynonym "u22 host gene", "u22hg", "uhg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23642 ; - skos:exactMatch HGNC_symbol:SNHG1 ; + skos:exactMatch UMLS:C1822798, + HGNC:32688, + HGNC_symbol:SNHG1 ; biolink:category biolink:Gene . OMIM:603223 a owl:Class ; @@ -169734,105 +174959,113 @@ OMIM:603223 a owl:Class ; IAO:0000142 PMID:7985025, PMID:8559254, PMID:9387929 ; - oboInOwl:hasDbXref UMLS:C1419492 ; oboInOwl:hasExactSynonym "RNA y", "RNU22", "rna, u22 small nucleolar", "snorna, u22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9304 ; - skos:exactMatch HGNC_symbol:SNORD22 ; + skos:exactMatch UMLS:C1419492, + HGNC:10145, + HGNC_symbol:SNORD22 ; biolink:category biolink:Gene . OMIM:603224 a owl:Class ; rdfs:label "RNU25" ; IAO:0000142 PMID:8559254, PMID:9387929 ; - oboInOwl:hasDbXref UMLS:C1419494 ; oboInOwl:hasExactSynonym "RNU25", "rna, u25 small nucleolar", "snorna, u25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9303 ; - skos:exactMatch HGNC_symbol:SNORD25 ; + skos:exactMatch UMLS:C1419494, + HGNC:10147, + HGNC_symbol:SNORD25 ; biolink:category biolink:Gene . OMIM:603225 a owl:Class ; rdfs:label "RNU26" ; IAO:0000142 PMID:8559254, PMID:9387929 ; - oboInOwl:hasDbXref UMLS:C1419495 ; oboInOwl:hasExactSynonym "RNU26", "rna, u26 small nucleolar", "snorna, u26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9302 ; - skos:exactMatch HGNC_symbol:SNORD26 ; + skos:exactMatch UMLS:C1419495, + HGNC:10148, + HGNC_symbol:SNORD26 ; biolink:category biolink:Gene . OMIM:603226 a owl:Class ; rdfs:label "RNU27" ; IAO:0000142 PMID:8559254, PMID:9387929 ; - oboInOwl:hasDbXref UMLS:C1419496 ; oboInOwl:hasExactSynonym "RNU27", "rna, u27 small nucleolar", "snorna, u27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9301 ; - skos:exactMatch HGNC_symbol:SNORD27 ; + skos:exactMatch UMLS:C1419496, + HGNC:10149, + HGNC_symbol:SNORD27 ; biolink:category biolink:Gene . OMIM:603227 a owl:Class ; rdfs:label "RNU28" ; IAO:0000142 PMID:8559254, PMID:9387929 ; - oboInOwl:hasDbXref UMLS:C1419497 ; oboInOwl:hasExactSynonym "RNU28", "rna, u28 small nucleolar", "snorna, u28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9300 ; - skos:exactMatch HGNC_symbol:SNORD28 ; + skos:exactMatch UMLS:C1419497, + HGNC:10150, + HGNC_symbol:SNORD28 ; biolink:category biolink:Gene . OMIM:603228 a owl:Class ; rdfs:label "RNU29" ; IAO:0000142 PMID:8559254, PMID:9387929 ; - oboInOwl:hasDbXref UMLS:C1822929 ; oboInOwl:hasExactSynonym "RNU29", "rna, u29 small nucleolar", "snorna, u29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9297 ; - skos:exactMatch HGNC_symbol:SNORD29 ; + skos:exactMatch UMLS:C1822929, + HGNC:10151, + HGNC_symbol:SNORD29 ; biolink:category biolink:Gene . OMIM:603229 a owl:Class ; rdfs:label "RNU30" ; IAO:0000142 PMID:8559254, PMID:9387929 ; - oboInOwl:hasDbXref UMLS:C1419504 ; oboInOwl:hasExactSynonym "RNU30", "rna, u30 small nucleolar", "snorna, u30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9299 ; - skos:exactMatch HGNC_symbol:SNORD30 ; + skos:exactMatch UMLS:C1419504, + HGNC:10157, + HGNC_symbol:SNORD30 ; biolink:category biolink:Gene . OMIM:603230 a owl:Class ; rdfs:label "RNU31" ; IAO:0000142 PMID:8559254, PMID:9387929 ; - oboInOwl:hasDbXref UMLS:C1419505 ; oboInOwl:hasExactSynonym "RNU31", "rna, u31 small nucleolar", "snorna, u31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9298 ; - skos:exactMatch HGNC_symbol:SNORD31 ; + skos:exactMatch UMLS:C1419505, + HGNC:10158, + HGNC_symbol:SNORD31 ; biolink:category biolink:Gene . OMIM:603231 a owl:Class ; @@ -169840,24 +175073,26 @@ OMIM:603231 a owl:Class ; IAO:0000142 PMID:17584299, PMID:9288094, PMID:9787081 ; - oboInOwl:hasDbXref UMLS:C1421690 ; oboInOwl:hasExactSynonym "ZNF200", "zinc finger protein 200" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7752 ; - skos:exactMatch HGNC_symbol:ZNF200 ; + skos:exactMatch UMLS:C1421690, + HGNC:12993, + HGNC_symbol:ZNF200 ; biolink:category biolink:Gene . OMIM:603232 a owl:Class ; rdfs:label "OR1F1" ; IAO:0000142 PMID:9288094 ; - oboInOwl:hasDbXref UMLS:C1417995 ; oboInOwl:hasExactSynonym "OR1F1", "olfactory receptor, family 1, subfamily f, member 1", "olfmf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4992 ; - skos:exactMatch HGNC_symbol:OR1F1 ; + skos:exactMatch UMLS:C1417995, + HGNC:8194, + HGNC_symbol:OR1F1 ; biolink:category biolink:Gene . OMIM:603234 a owl:Class ; @@ -169918,14 +175153,15 @@ OMIM:603234 a owl:Class ; PMID:9892204 ; RO:0002525 CHR:9606chr16p13.11 ; RO:0003303 OMIM:177850 ; - oboInOwl:hasDbXref UMLS:C1412081 ; oboInOwl:hasExactSynonym "ABCC6", "anthracycline resistance-associated protein", "atp-binding cassette, subfamily c, member 6", "multidrug resistance-associated protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:368 ; - skos:exactMatch HGNC_symbol:ABCC6 ; + skos:exactMatch UMLS:C1412081, + HGNC:57, + HGNC_symbol:ABCC6 ; biolink:category biolink:Gene . OMIM:603235 a owl:Class ; @@ -169933,14 +175169,15 @@ OMIM:603235 a owl:Class ; IAO:0000142 PMID:10708517, PMID:17503775, PMID:9256076 ; - oboInOwl:hasDbXref UMLS:C1419969 ; oboInOwl:hasExactSynonym "SELENOW", "selenoprotein w", "selenoprotein w, 1", "selw" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6415 ; - skos:exactMatch HGNC_symbol:SELENOW ; + skos:exactMatch UMLS:C1419969, + HGNC:10752, + HGNC_symbol:SELENOW ; biolink:category biolink:Gene . OMIM:603236 a owl:Class ; @@ -169950,54 +175187,58 @@ OMIM:603236 a owl:Class ; PMID:8626466 ; RO:0002525 CHR:9606chr16q24.2 ; RO:0003303 OMIM:614714 ; - oboInOwl:hasDbXref UMLS:C1417507 ; oboInOwl:hasExactSynonym "MVD", "mevalonate pyrophosphate decarboxylase", "mpd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4597 ; - skos:exactMatch HGNC_symbol:MVD ; + skos:exactMatch UMLS:C1417507, + HGNC:7529, + HGNC_symbol:MVD ; biolink:category biolink:Gene . OMIM:603237 a owl:Class ; rdfs:label "EPB41L2" ; IAO:0000142 PMID:21482674, PMID:9598318 ; - oboInOwl:hasDbXref UMLS:C1414424 ; oboInOwl:hasExactSynonym "EPB41L2", "erythrocyte membrane protein 4.1-like 2", "nonerythroid protein 4.1, general iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2037 ; - skos:exactMatch HGNC_symbol:EPB41L2 ; + skos:exactMatch UMLS:C1414424, + HGNC:3379, + HGNC_symbol:EPB41L2 ; biolink:category biolink:Gene . OMIM:603238 a owl:Class ; rdfs:label "RNU17D" ; IAO:0000142 PMID:9671460 ; - oboInOwl:hasDbXref UMLS:C1419465, - UMLS:C1864075 ; oboInOwl:hasExactSynonym "RNU17D", "rna, u17d small nucleolar", "snorna, u17d", "u17 host gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8420 ; - skos:exactMatch HGNC_symbol:SNHG3 ; + skos:exactMatch UMLS:C1419465, + UMLS:C1864075, + HGNC:10118, + HGNC_symbol:SNHG3 ; biolink:category biolink:Gene . OMIM:603239 a owl:Class ; rdfs:label "SNORA73B" ; IAO:0000142 PMID:8335005, PMID:9671460 ; - oboInOwl:hasDbXref UMLS:C1419463 ; oboInOwl:hasExactSynonym "SNORA73B", "rna, u17b small nucleolar", "small nucleolar rna, h/aca box, 73b", "snorna, u17b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26768 ; - skos:exactMatch HGNC_symbol:SNORA73B ; + skos:exactMatch UMLS:C1419463, + HGNC:10116, + HGNC_symbol:SNORA73B ; biolink:category biolink:Gene . OMIM:603241 a owl:Class ; @@ -170005,21 +175246,21 @@ OMIM:603241 a owl:Class ; IAO:0000142 PMID:19441093, PMID:8666243, PMID:9615236 ; - oboInOwl:hasDbXref UMLS:C1416924 ; oboInOwl:hasExactSynonym "LSAMP", "iglon3", "lamp", "limbic system-associated membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4045 ; - skos:exactMatch HGNC_symbol:LSAMP ; + skos:exactMatch UMLS:C1416924, + HGNC:6705, + HGNC_symbol:LSAMP ; biolink:category biolink:Gene . OMIM:603242 a owl:Class ; rdfs:label "CLEC2B" ; IAO:0000142 PMID:17057721, PMID:9038101 ; - oboInOwl:hasDbXref UMLS:C1539088 ; oboInOwl:hasExactSynonym "CLEC2B", "activation-induced c-type lectin", "c-type lectin domain family 2, member B", @@ -170027,7 +175268,9 @@ OMIM:603242 a owl:Class ; "lectin, c-type, superfamily member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9976 ; - skos:exactMatch HGNC_symbol:CLEC2B ; + skos:exactMatch UMLS:C1539088, + HGNC:2053, + HGNC_symbol:CLEC2B ; biolink:category biolink:Gene . OMIM:603243 a owl:Class ; @@ -170040,13 +175283,14 @@ OMIM:603243 a owl:Class ; PMID:21573434, PMID:7626106, PMID:8980404 ; - oboInOwl:hasDbXref UMLS:C1332083 ; oboInOwl:hasExactSynonym "AMFR", "autocrine motility factor receptor", "gp78" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:267 ; - skos:exactMatch HGNC_symbol:AMFR ; + skos:exactMatch UMLS:C1332083, + HGNC:463, + HGNC_symbol:AMFR ; biolink:category biolink:Gene . OMIM:603244 a owl:Class ; @@ -170054,7 +175298,6 @@ OMIM:603244 a owl:Class ; IAO:0000142 PMID:12671048, PMID:8900198, PMID:9346953 ; - oboInOwl:hasDbXref UMLS:C1415727 ; oboInOwl:hasExactSynonym "3ost", "3ost1", "HS3ST1", @@ -170063,7 +175306,9 @@ OMIM:603244 a owl:Class ; "heparan sulfate-glucosamine 3-sulfotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9957 ; - skos:exactMatch HGNC_symbol:HS3ST1 ; + skos:exactMatch UMLS:C1415727, + HGNC:5194, + HGNC_symbol:HS3ST1 ; biolink:category biolink:Gene . OMIM:603245 a owl:Class ; @@ -170072,7 +175317,6 @@ OMIM:603245 a owl:Class ; PMID:17963489, PMID:7523856, PMID:9446603 ; - oboInOwl:hasDbXref UMLS:C1424218 ; oboInOwl:hasExactSynonym "NKX2-8", "nk2 homeobox 8", "nk2, drosophila, homolog of, 8", @@ -170080,14 +175324,15 @@ OMIM:603245 a owl:Class ; "nkx2-9, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26257 ; - skos:exactMatch HGNC_symbol:NKX2-8 ; + skos:exactMatch UMLS:C1424218, + HGNC:16364, + HGNC_symbol:NKX2-8 ; biolink:category biolink:Gene . OMIM:603246 a owl:Class ; rdfs:label "GTF3C1" ; IAO:0000142 PMID:8127861, PMID:8164661 ; - oboInOwl:hasDbXref UMLS:C1333724 ; oboInOwl:hasExactSynonym "GTF3C1", "general transcription factor 3c, polypeptide 1", "tf3c-alpha", @@ -170096,7 +175341,9 @@ OMIM:603246 a owl:Class ; "transcription factor iiic, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2975 ; - skos:exactMatch HGNC_symbol:GTF3C1 ; + skos:exactMatch UMLS:C1333724, + HGNC:4664, + HGNC_symbol:GTF3C1 ; biolink:category biolink:Gene . OMIM:603248 a owl:Class ; @@ -170115,27 +175362,29 @@ OMIM:603248 a owl:Class ; PMID:9730621 ; RO:0002525 CHR:9606chr4q22.3 ; RO:0003303 OMIM:112600 ; - oboInOwl:hasDbXref UMLS:C1412807 ; oboInOwl:hasExactSynonym "BMPR1B", "activin receptor-like kinase 6", "bone morphogenetic protein receptor, iia 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:658 ; - skos:exactMatch HGNC_symbol:BMPR1B ; + skos:exactMatch UMLS:C1412807, + HGNC:1077, + HGNC_symbol:BMPR1B ; biolink:category biolink:Gene . OMIM:603249 a owl:Class ; rdfs:label "NIPSNAP1" ; IAO:0000142 PMID:18392847, PMID:9661659 ; - oboInOwl:hasDbXref UMLS:C1417731 ; oboInOwl:hasExactSynonym "4-nitrophenylphosphatase domain and nonneuronal snap25-like 1", "NIPSNAP1", "nipsnap homolog 1", "nipsnap, c. elegans, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8508 ; - skos:exactMatch HGNC_symbol:NIPSNAP1 ; + skos:exactMatch UMLS:C1417731, + HGNC:7827, + HGNC_symbol:NIPSNAP1 ; biolink:category biolink:Gene . OMIM:603250 a owl:Class ; @@ -170144,14 +175393,15 @@ OMIM:603250 a owl:Class ; PMID:8626802, PMID:9722567, PMID:9799607 ; - oboInOwl:hasDbXref UMLS:C1414678 ; oboInOwl:hasExactSynonym "FOXF2", "forkhead box f2", "forkhead, drosophila, homolog-like 6", "forkhead-related activator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2295 ; - skos:exactMatch HGNC_symbol:FOXF2 ; + skos:exactMatch UMLS:C1414678, + HGNC:3810, + HGNC_symbol:FOXF2 ; biolink:category biolink:Gene . OMIM:603251 a owl:Class ; @@ -170173,14 +175423,15 @@ OMIM:603251 a owl:Class ; PMID:7882308, PMID:8170997, PMID:8870681 ; - oboInOwl:hasDbXref UMLS:C1413290 ; oboInOwl:hasExactSynonym "CDK9", "ctk1, yeast, homolog of", "cyclin-dependent kinase 9", "pitalre" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1025 ; - skos:exactMatch HGNC_symbol:CDK9 ; + skos:exactMatch UMLS:C1413290, + HGNC:1780, + HGNC_symbol:CDK9 ; biolink:category biolink:Gene . OMIM:603252 a owl:Class ; @@ -170194,7 +175445,6 @@ OMIM:603252 a owl:Class ; PMID:29720649, PMID:7957066, PMID:9203584 ; - oboInOwl:hasDbXref UMLS:C1414684 ; oboInOwl:hasExactSynonym "FOXL1", "fkh6", "forkhead box l1", @@ -170202,7 +175452,9 @@ OMIM:603252 a owl:Class ; "forkhead-related activator 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2300 ; - skos:exactMatch HGNC_symbol:FOXL1 ; + skos:exactMatch UMLS:C1414684, + HGNC:3817, + HGNC_symbol:FOXL1 ; biolink:category biolink:Gene . OMIM:603253 a owl:Class ; @@ -170212,7 +175464,6 @@ OMIM:603253 a owl:Class ; PMID:9632704, PMID:9733783, PMID:9892200 ; - oboInOwl:hasDbXref UMLS:C1413776 ; oboInOwl:hasExactSynonym "CST7", "cystatin 7", "cystatin f", @@ -170220,7 +175471,9 @@ OMIM:603253 a owl:Class ; "leukocystatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8530 ; - skos:exactMatch HGNC_symbol:CST7 ; + skos:exactMatch UMLS:C1413776, + HGNC:2479, + HGNC_symbol:CST7 ; biolink:category biolink:Gene . OMIM:603254 a owl:Class ; @@ -170257,28 +175510,30 @@ OMIM:603254 a owl:Class ; PMID:8269278 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:613325 ; - oboInOwl:hasDbXref UMLS:C1335843, - UMLS:C2750074, - UMLS:C3553249 ; oboInOwl:hasExactSynonym "SMARCA4", "brm/swi2-related gene 1", "snf2-beta", "swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6597 ; - skos:exactMatch HGNC_symbol:SMARCA4 ; + skos:exactMatch UMLS:C1335843, + UMLS:C2750074, + UMLS:C3553249, + HGNC:11100, + HGNC_symbol:SMARCA4 ; biolink:category biolink:Gene . OMIM:603255 a owl:Class ; rdfs:label "NFX1" ; IAO:0000142 PMID:12047746, PMID:7964459 ; - oboInOwl:hasDbXref UMLS:C1417714 ; oboInOwl:hasExactSynonym "NFX1", "nuclear transcription factor, 10 box-binding, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4799 ; - skos:exactMatch HGNC_symbol:NFX1 ; + skos:exactMatch UMLS:C1417714, + HGNC:7803, + HGNC_symbol:NFX1 ; biolink:category biolink:Gene . OMIM:603256 a owl:Class ; @@ -170289,7 +175544,6 @@ OMIM:603256 a owl:Class ; PMID:20833976, PMID:9671805, PMID:9705290 ; - oboInOwl:hasDbXref UMLS:C1416921 ; oboInOwl:hasExactSynonym "LRRFIP1", "flii lrr-associated protein 1", "gc-binding factor 2", @@ -170298,7 +175552,9 @@ OMIM:603256 a owl:Class ; "transcription factor 9-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9208 ; - skos:exactMatch HGNC_symbol:LRRFIP1 ; + skos:exactMatch UMLS:C1416921, + HGNC:6702, + HGNC_symbol:LRRFIP1 ; biolink:category biolink:Gene . OMIM:603257 a owl:Class ; @@ -170308,7 +175564,6 @@ OMIM:603257 a owl:Class ; PMID:7558014, PMID:7876228, PMID:8672239 ; - oboInOwl:hasDbXref UMLS:C1335842 ; oboInOwl:hasExactSynonym "SMARCA3", "helicase-like transcription factor", "hip116", @@ -170317,7 +175572,9 @@ OMIM:603257 a owl:Class ; "swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6596 ; - skos:exactMatch HGNC_symbol:HLTF ; + skos:exactMatch UMLS:C1335842, + HGNC:11099, + HGNC_symbol:HLTF ; biolink:category biolink:Gene . OMIM:603258 a owl:Class ; @@ -170363,9 +175620,6 @@ OMIM:603258 a owl:Class ; PMID:9878263 ; RO:0002525 CHR:9606chr8p11.21 ; RO:0003303 OMIM:615592 ; - oboInOwl:hasDbXref UMLS:C1442489, - UMLS:C4747743, - UMLS:C4748694 ; oboInOwl:hasExactSynonym "IKBKB", "i-kappa-b kinase 2", "i-kappa-b kinase-beta", @@ -170375,7 +175629,11 @@ OMIM:603258 a owl:Class ; "nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor, kinase of, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3551 ; - skos:exactMatch HGNC_symbol:IKBKB ; + skos:exactMatch UMLS:C1442489, + UMLS:C4747743, + UMLS:C4748694, + HGNC:5960, + HGNC_symbol:IKBKB ; biolink:category biolink:Gene . OMIM:603259 a owl:Class ; @@ -170389,12 +175647,13 @@ OMIM:603260 a owl:Class ; PMID:15809042, PMID:7669690, PMID:9804553 ; - oboInOwl:hasDbXref UMLS:C1412737 ; oboInOwl:hasExactSynonym "BARX1", "barh-like homeobox gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56033 ; - skos:exactMatch HGNC_symbol:BARX1 ; + skos:exactMatch UMLS:C1412737, + HGNC:955, + HGNC_symbol:BARX1 ; biolink:category biolink:Gene . OMIM:603261 a owl:Class ; @@ -170404,14 +175663,15 @@ OMIM:603261 a owl:Class ; PMID:9038203, PMID:9367159, PMID:9753329 ; - oboInOwl:hasDbXref UMLS:C1335220 ; oboInOwl:hasExactSynonym "PIP4K2B", "phosphatidylinositol 4-phosphate 5-kinase, iia ii, beta", "phosphatidylinositol 5-phosphate 4-kinase, iia ii, beta", "phosphatidylinositol 5-phosphate 4-kinase, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8396 ; - skos:exactMatch HGNC_symbol:PIP4K2B ; + skos:exactMatch UMLS:C1335220, + HGNC:8998, + HGNC_symbol:PIP4K2B ; biolink:category biolink:Gene . OMIM:603262 a owl:Class ; @@ -170430,7 +175690,6 @@ OMIM:603262 a owl:Class ; PMID:9668121, PMID:9671738, PMID:9771708 ; - oboInOwl:hasDbXref UMLS:C1418267 ; oboInOwl:hasExactSynonym "3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 1", "PAPSS1", "atp sulfurylase/adenosine 5-prime phosphosulfate kinase 1", @@ -170441,7 +175700,9 @@ OMIM:603262 a owl:Class ; "sk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9061 ; - skos:exactMatch HGNC_symbol:PAPSS1 ; + skos:exactMatch UMLS:C1418267, + HGNC:8603, + HGNC_symbol:PAPSS1 ; biolink:category biolink:Gene . OMIM:603263 a owl:Class ; @@ -170455,19 +175716,19 @@ OMIM:603263 a owl:Class ; PMID:9770531 ; RO:0002525 CHR:9606chr15q22.2 ; RO:0003303 OMIM:143860 ; - oboInOwl:hasDbXref UMLS:C1413041 ; oboInOwl:hasExactSynonym "CA12", "ca 12", "carbonic anhydrase 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:771 ; - skos:exactMatch HGNC_symbol:CA12 ; + skos:exactMatch UMLS:C1413041, + HGNC:1371, + HGNC_symbol:CA12 ; biolink:category biolink:Gene . OMIM:603264 a owl:Class ; rdfs:label "RHBDL1" ; IAO:0000142 PMID:9662444 ; - oboInOwl:hasDbXref UMLS:C1419380 ; oboInOwl:hasExactSynonym "RHBDL1", "drosophila rhomboid-like", "rhbdl", @@ -170475,7 +175736,9 @@ OMIM:603264 a owl:Class ; "rhomboid-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9028 ; - skos:exactMatch HGNC_symbol:RHBDL1 ; + skos:exactMatch UMLS:C1419380, + HGNC:10007, + HGNC_symbol:RHBDL1 ; biolink:category biolink:Gene . OMIM:603265 a owl:Class ; @@ -170484,14 +175747,15 @@ OMIM:603265 a owl:Class ; PMID:25535283, PMID:8543152, PMID:9722953 ; - oboInOwl:hasDbXref UMLS:C1414153 ; oboInOwl:hasExactSynonym "ARID3A", "arid-containing protein 3a", "at-rich interaction domain-containing protein 3a", "dead ringer, drosophila, homolog-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1820 ; - skos:exactMatch HGNC_symbol:ARID3A ; + skos:exactMatch UMLS:C1414153, + HGNC:3031, + HGNC_symbol:ARID3A ; biolink:category biolink:Gene . OMIM:603267 a owl:Class ; @@ -170502,13 +175766,14 @@ OMIM:603267 a owl:Class ; PMID:9722942 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:619318 ; - oboInOwl:hasDbXref UMLS:C1420309 ; oboInOwl:hasExactSynonym "CAPN15", "calpain 15", "small optic lobes, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6650 ; - skos:exactMatch HGNC_symbol:CAPN15 ; + skos:exactMatch UMLS:C1420309, + HGNC:11182, + HGNC_symbol:CAPN15 ; biolink:category biolink:Gene . OMIM:603268 a owl:Class ; @@ -170522,7 +175787,6 @@ OMIM:603268 a owl:Class ; PMID:8144627, PMID:8294485, PMID:9601056 ; - oboInOwl:hasDbXref UMLS:C1417618 ; oboInOwl:hasExactSynonym "NDST2", "heparan glucosaminyl n-deacetylase/n-sulfotransferase 2", "heparan n-sulfotransferase 2", @@ -170530,13 +175794,14 @@ OMIM:603268 a owl:Class ; "n-deacetylase/n-sulfotransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8509 ; - skos:exactMatch HGNC_symbol:NDST2 ; + skos:exactMatch UMLS:C1417618, + HGNC:7681, + HGNC_symbol:NDST2 ; biolink:category biolink:Gene . OMIM:603269 a owl:Class ; rdfs:label "SRSF8" ; IAO:0000142 PMID:9671500 ; - oboInOwl:hasDbXref UMLS:C1822698 ; oboInOwl:hasExactSynonym "SRSF8", "serine/arginine-rich splicing factor 8", "splicing factor, arginine/serine-rich, 2b", @@ -170544,39 +175809,42 @@ OMIM:603269 a owl:Class ; "splicing factor, serine/arginine-rich, 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10929 ; - skos:exactMatch HGNC_symbol:SRSF8 ; + skos:exactMatch UMLS:C1822698, + HGNC:16988, + HGNC_symbol:SRSF8 ; biolink:category biolink:Gene . OMIM:603270 a owl:Class ; rdfs:label "ATP5PB" ; IAO:0000142 PMID:1831354, PMID:7599212 ; - oboInOwl:hasDbXref UMLS:C1412661 ; oboInOwl:hasExactSynonym "ATP5PB", "atp synthase peripheral stalk membrane, subunit B", "atp synthase, h+ transporting, mitochondrial fo complex, subunit b, isoform 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:515 ; - skos:exactMatch HGNC_symbol:ATP5PB ; + skos:exactMatch UMLS:C1412661, + HGNC:840, + HGNC_symbol:ATP5PB ; biolink:category biolink:Gene . OMIM:603271 a owl:Class ; rdfs:label "PTPN21" ; IAO:0000142 PMID:7519780 ; - oboInOwl:hasDbXref UMLS:C1419101 ; oboInOwl:hasExactSynonym "PTPN21", "protein-tyrosine phosphatase d1", "protein-tyrosine phosphatase, nonreceptor-type, 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11099 ; - skos:exactMatch HGNC_symbol:PTPN21 ; + skos:exactMatch UMLS:C1419101, + HGNC:9651, + HGNC_symbol:PTPN21 ; biolink:category biolink:Gene . OMIM:603272 a owl:Class ; rdfs:label "CNKSR1" ; IAO:0000142 PMID:14749388, PMID:9814705 ; - oboInOwl:hasDbXref UMLS:C1332768 ; oboInOwl:hasExactSynonym "CNKSR1", "cnk, drosophila, homolog of", "cnk1", @@ -170584,7 +175852,9 @@ OMIM:603272 a owl:Class ; "connector enhancer of ksr 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10256 ; - skos:exactMatch HGNC_symbol:CNKSR1 ; + skos:exactMatch UMLS:C1332768, + HGNC:19700, + HGNC_symbol:CNKSR1 ; biolink:category biolink:Gene . OMIM:603273 a owl:Class ; @@ -170655,14 +175925,6 @@ OMIM:603273 a owl:Class ; PMID:9799841 ; RO:0002525 CHR:9606chr3q28 ; RO:0003303 OMIM:605289 ; - oboInOwl:hasDbXref UMLS:C0406709, - UMLS:C1422009, - UMLS:C1785148, - UMLS:C1851878, - UMLS:C1854442, - UMLS:C1858562, - UMLS:C1863204, - UMLS:C1863753 ; oboInOwl:hasExactSynonym "TP63", "ket", "p53-related protein p63", @@ -170670,7 +175932,16 @@ OMIM:603273 a owl:Class ; "tumor protein p73-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8626 ; - skos:exactMatch HGNC_symbol:TP63 ; + skos:exactMatch UMLS:C0406709, + UMLS:C1422009, + UMLS:C1785148, + UMLS:C1851878, + UMLS:C1854442, + UMLS:C1858562, + UMLS:C1863204, + UMLS:C1863753, + HGNC:15979, + HGNC_symbol:TP63 ; biolink:category biolink:Gene . OMIM:603274 a owl:Class ; @@ -170684,12 +175955,13 @@ OMIM:603275 a owl:Class ; PMID:18772438, PMID:8955136, PMID:9535851 ; - oboInOwl:hasDbXref UMLS:C1418588 ; oboInOwl:hasExactSynonym "PIP5K1A", "phosphatidylinositol 4-phosphate 5-kinase, iia i, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8394 ; - skos:exactMatch HGNC_symbol:PIP5K1A ; + skos:exactMatch UMLS:C1418588, + HGNC:8994, + HGNC_symbol:PIP5K1A ; biolink:category biolink:Gene . OMIM:603276 a owl:Class ; @@ -170700,12 +175972,13 @@ OMIM:603276 a owl:Class ; PMID:9747037 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1419375 ; oboInOwl:hasExactSynonym "RGS5", "regulator of g protein signaling 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8490 ; - skos:exactMatch HGNC_symbol:RGS5 ; + skos:exactMatch UMLS:C1419375, + HGNC:10001, + HGNC_symbol:RGS5 ; biolink:category biolink:Gene . OMIM:603277 a owl:Class ; @@ -170722,13 +175995,14 @@ OMIM:603277 a owl:Class ; PMID:9790534 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:617159 ; - oboInOwl:hasDbXref UMLS:C1413383 ; oboInOwl:hasExactSynonym "CHD4", "chromodomain helicase dna-binding protein 4", "mi2-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1108 ; - skos:exactMatch HGNC_symbol:CHD4 ; + skos:exactMatch UMLS:C1413383, + HGNC:1919, + HGNC_symbol:CHD4 ; biolink:category biolink:Gene . OMIM:603279 a owl:Class ; @@ -170736,26 +176010,28 @@ OMIM:603279 a owl:Class ; IAO:0000142 PMID:10364532, PMID:12032737, PMID:8348150 ; - oboInOwl:hasDbXref UMLS:C1414442 ; oboInOwl:hasExactSynonym "ERDA1", "expanded repeat domain, cag/ctg, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9030 ; - skos:exactMatch HGNC_symbol:ERDA1 ; + skos:exactMatch UMLS:C1414442, + HGNC:3442, + HGNC_symbol:ERDA1 ; biolink:category biolink:Gene . OMIM:603281 a owl:Class ; rdfs:label "OASL" ; IAO:0000142 PMID:7776974, PMID:9722630 ; - oboInOwl:hasDbXref UMLS:C1417916 ; oboInOwl:hasExactSynonym "2-prime,5-prime-oligoadenylate synthetase-like", "OASL", "p59oasl", "thyroid hormone receptor interactor 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8638 ; - skos:exactMatch HGNC_symbol:OASL ; + skos:exactMatch UMLS:C1417916, + HGNC:8090, + HGNC_symbol:OASL ; biolink:category biolink:Gene . OMIM:603283 a owl:Class ; @@ -170770,13 +176046,14 @@ OMIM:603283 a owl:Class ; PMID:7588753 ; RO:0002525 CHR:9606chr6q22.31 ; RO:0003303 OMIM:615441 ; - oboInOwl:hasDbXref UMLS:C1421109 ; oboInOwl:hasExactSynonym "TRDN", "triadin", "trisk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10345 ; - skos:exactMatch HGNC_symbol:TRDN ; + skos:exactMatch UMLS:C1421109, + HGNC:12261, + HGNC_symbol:TRDN ; biolink:category biolink:Gene . OMIM:603286 a owl:Class ; @@ -170797,14 +176074,15 @@ OMIM:603286 a owl:Class ; PMID:9806840 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:614842 ; - oboInOwl:hasDbXref UMLS:C1334307 ; oboInOwl:hasExactSynonym "KISS1", "kiss1 metastasis suppressor", "kisspeptin", "metastin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3814 ; - skos:exactMatch HGNC_symbol:KISS1 ; + skos:exactMatch UMLS:C1334307, + HGNC:6341, + HGNC_symbol:KISS1 ; biolink:category biolink:Gene . OMIM:603287 a owl:Class ; @@ -170818,14 +176096,15 @@ OMIM:603287 a owl:Class ; PMID:9601034 ; RO:0002525 CHR:9606chr17q21.32 ; RO:0003303 OMIM:610090 ; - oboInOwl:hasDbXref UMLS:C1538689 ; oboInOwl:hasExactSynonym "PNPO", "pyridoxal 5-prime-phosphate synthase", "pyridoxamine 5-prime-phosphate oxidase", "pyridoxamine-phosphate oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55163 ; - skos:exactMatch HGNC_symbol:PNPO ; + skos:exactMatch UMLS:C1538689, + HGNC:30260, + HGNC_symbol:PNPO ; biolink:category biolink:Gene . OMIM:603288 a owl:Class ; @@ -170840,12 +176119,13 @@ OMIM:603288 a owl:Class ; PMID:9712886 ; RO:0002525 CHR:9606chr12q21.33 ; RO:0003303 OMIM:217300 ; - oboInOwl:hasDbXref UMLS:C1416626 ; oboInOwl:hasExactSynonym "KERA", "keratocan" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11081 ; - skos:exactMatch HGNC_symbol:KERA ; + skos:exactMatch UMLS:C1416626, + HGNC:6309, + HGNC_symbol:KERA ; biolink:category biolink:Gene . OMIM:603289 a owl:Class ; @@ -170853,13 +176133,14 @@ OMIM:603289 a owl:Class ; IAO:0000142 PMID:18995835, PMID:9488481, PMID:9747039 ; - oboInOwl:hasDbXref UMLS:C1413908 ; oboInOwl:hasExactSynonym "DAPK3", "death-associated protein kinase 3", "zip kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1613 ; - skos:exactMatch HGNC_symbol:DAPK3 ; + skos:exactMatch UMLS:C1413908, + HGNC:2676, + HGNC_symbol:DAPK3 ; biolink:category biolink:Gene . OMIM:603290 a owl:Class ; @@ -170870,38 +176151,41 @@ OMIM:603290 a owl:Class ; PMID:9742101 ; RO:0002525 CHR:9606chr11q13.3-q13.4 ; RO:0003303 OMIM:613436 ; - oboInOwl:hasDbXref UMLS:C1422551 ; oboInOwl:hasExactSynonym "SHANK2", "cortactin-binding protein 1", "sh3 and multiple ankyrin repeat domains 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22941 ; - skos:exactMatch HGNC_symbol:SHANK2 ; + skos:exactMatch UMLS:C1422551, + HGNC:14295, + HGNC_symbol:SHANK2 ; biolink:category biolink:Gene . OMIM:603291 a owl:Class ; rdfs:label "BNIP1" ; IAO:0000142 PMID:23896122, PMID:7954800 ; - oboInOwl:hasDbXref UMLS:C1412810 ; oboInOwl:hasExactSynonym "BNIP1", "bcl2/adenovirus e1b 19-kd protein-interacting protein 1", "nip1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:662 ; - skos:exactMatch HGNC_symbol:BNIP1 ; + skos:exactMatch UMLS:C1412810, + HGNC:1082, + HGNC_symbol:BNIP1 ; biolink:category biolink:Gene . OMIM:603292 a owl:Class ; rdfs:label "BNIP2" ; IAO:0000142 PMID:7954800 ; - oboInOwl:hasDbXref UMLS:C1412811 ; oboInOwl:hasExactSynonym "BNIP2", "bcl2/adenovirus e1b 19-kd protein-interacting protein 2", "nip2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:663 ; - skos:exactMatch HGNC_symbol:BNIP2 ; + skos:exactMatch UMLS:C1412811, + HGNC:1083, + HGNC_symbol:BNIP2 ; biolink:category biolink:Gene . OMIM:603293 a owl:Class ; @@ -170912,13 +176196,14 @@ OMIM:603293 a owl:Class ; PMID:21037586, PMID:26358776, PMID:7954800 ; - oboInOwl:hasDbXref UMLS:C1412812 ; oboInOwl:hasExactSynonym "BNIP3", "bcl2/adenovirus e1b 19-kd protein-interacting protein 3", "nip3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:664 ; - skos:exactMatch HGNC_symbol:BNIP3 ; + skos:exactMatch UMLS:C1412812, + HGNC:1084, + HGNC_symbol:BNIP3 ; biolink:category biolink:Gene . OMIM:603294 a owl:Class ; @@ -170933,14 +176218,15 @@ OMIM:603294 a owl:Class ; PMID:9712829 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:618124 ; - oboInOwl:hasDbXref UMLS:C1417072 ; oboInOwl:hasExactSynonym "MCM3AP", "germinal center-associated nuclear protein", "mcm3-associated protein, 80-kd", "minichromosome maintenance 3-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8888 ; - skos:exactMatch HGNC_symbol:MCM3AP ; + skos:exactMatch UMLS:C1417072, + HGNC:6946, + HGNC_symbol:MCM3AP ; biolink:category biolink:Gene . OMIM:603295 a owl:Class ; @@ -170957,9 +176243,6 @@ OMIM:603295 a owl:Class ; PMID:9371779 ; RO:0002525 CHR:9606chr13q13.3 ; RO:0003303 OMIM:615342 ; - oboInOwl:hasDbXref UMLS:C1416964, - UMLS:C2986382, - UMLS:C3888002 ; oboInOwl:hasExactSynonym "SMAD9", "mothers against decapentaplegic, drosophila, homolog of, 6, formerly", "mothers against decapentaplegic, drosophila, homolog of, 9", @@ -170968,13 +176251,16 @@ OMIM:603295 a owl:Class ; "smad8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4093 ; - skos:exactMatch HGNC_symbol:SMAD9 ; + skos:exactMatch UMLS:C1416964, + UMLS:C2986382, + UMLS:C3888002, + HGNC:6774, + HGNC_symbol:SMAD9 ; biolink:category biolink:Gene . OMIM:603296 a owl:Class ; rdfs:label "LAMTOR3" ; IAO:0000142 PMID:9733512 ; - oboInOwl:hasDbXref UMLS:C1423612 ; oboInOwl:hasExactSynonym "LAMTOR3", "late endosomal/lysosomal adaptor, mapk and mtor activator 3", "late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 3", @@ -170983,7 +176269,9 @@ OMIM:603296 a owl:Class ; "mitogen-activated protein kinase kinase 1-interacting protein 1, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8649 ; - skos:exactMatch HGNC_symbol:LAMTOR3 ; + skos:exactMatch UMLS:C1423612, + HGNC:15606, + HGNC_symbol:LAMTOR3 ; biolink:category biolink:Gene . OMIM:603297 a owl:Class ; @@ -171005,14 +176293,15 @@ OMIM:603297 a owl:Class ; PMID:9450951 ; RO:0002525 CHR:9606chr11q22.3 ; RO:0003303 OMIM:613091 ; - oboInOwl:hasDbXref UMLS:C1825010 ; oboInOwl:hasExactSynonym "DYNC2H1", "dnch2", "dynein heavy chain, isotype 1b", "dynein, cytoplasmic 2, heavy chain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79659 ; - skos:exactMatch HGNC_symbol:DYNC2H1 ; + skos:exactMatch UMLS:C1825010, + HGNC:2962, + HGNC_symbol:DYNC2H1 ; biolink:category biolink:Gene . OMIM:603298 a owl:Class ; @@ -171023,13 +176312,14 @@ OMIM:603298 a owl:Class ; PMID:12855696, PMID:14528005, PMID:9341199 ; - oboInOwl:hasDbXref UMLS:C1418855 ; oboInOwl:hasExactSynonym "PPT2", "g14", "palmitoyl-protein thioesterase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9374 ; - skos:exactMatch HGNC_symbol:PPT2 ; + skos:exactMatch UMLS:C1418855, + HGNC:9326, + HGNC_symbol:PPT2 ; biolink:category biolink:Gene . OMIM:603299 a owl:Class ; @@ -171039,13 +176329,14 @@ OMIM:603299 a owl:Class ; OMIM:603300 a owl:Class ; rdfs:label "TNFAIP2" ; IAO:0000142 PMID:1374453 ; - oboInOwl:hasDbXref UMLS:C1420798 ; oboInOwl:hasExactSynonym "TNFAIP2", "exocyst complex component 3-like 3", "tumor necrosis factor-alpha-induced protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7127 ; - skos:exactMatch HGNC_symbol:TNFAIP2 ; + skos:exactMatch UMLS:C1420798, + HGNC:11895, + HGNC_symbol:TNFAIP2 ; biolink:category biolink:Gene . OMIM:603301 a owl:Class ; @@ -171057,7 +176348,6 @@ OMIM:603301 a owl:Class ; PMID:9748269 ; RO:0002525 CHR:9606chr2p25.1 ; RO:0003303 OMIM:610508 ; - oboInOwl:hasDbXref UMLS:C1537489 ; oboInOwl:hasExactSynonym "KLF11", "kruppel-like factor 11", "kruppel-like transcription factor 1", @@ -171065,7 +176355,9 @@ OMIM:603301 a owl:Class ; "transforming growth factor-beta-inducible early growth response 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8462 ; - skos:exactMatch HGNC_symbol:KLF11 ; + skos:exactMatch UMLS:C1537489, + HGNC:11811, + HGNC_symbol:KLF11 ; biolink:category biolink:Gene . OMIM:603302 a owl:Class ; @@ -171076,13 +176368,14 @@ OMIM:603302 a owl:Class ; PMID:7575502, PMID:8662814, PMID:9628827 ; - oboInOwl:hasDbXref UMLS:C1332025 ; oboInOwl:hasExactSynonym "ADCY9", "adenylate cyclase 9", "adenylyl cyclase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115 ; - skos:exactMatch HGNC_symbol:ADCY9 ; + skos:exactMatch UMLS:C1332025, + HGNC:240, + HGNC_symbol:ADCY9 ; biolink:category biolink:Gene . OMIM:603303 a owl:Class ; @@ -171094,14 +176387,15 @@ OMIM:603303 a owl:Class ; PMID:19759537, PMID:25327252, PMID:9822378 ; - oboInOwl:hasDbXref UMLS:C1336654 ; oboInOwl:hasExactSynonym "TNKS", "tankyrase", "tankyrase 1", "trf1-interacting, ankyrin-related adp-ribose polymerase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8658 ; - skos:exactMatch HGNC_symbol:TNKS ; + skos:exactMatch UMLS:C1336654, + HGNC:11941, + HGNC_symbol:TNKS ; biolink:category biolink:Gene . OMIM:603304 a owl:Class ; @@ -171109,12 +176403,13 @@ OMIM:603304 a owl:Class ; IAO:0000142 PMID:19564352, PMID:20485341, PMID:9374458 ; - oboInOwl:hasDbXref UMLS:C1334135 ; oboInOwl:hasExactSynonym "IRAK2", "interleukin 1 receptor-associated kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3656 ; - skos:exactMatch HGNC_symbol:IRAK2 ; + skos:exactMatch UMLS:C1334135, + HGNC:6113, + HGNC_symbol:IRAK2 ; biolink:category biolink:Gene . OMIM:603305 a owl:Class ; @@ -171133,14 +176428,15 @@ OMIM:603305 a owl:Class ; PMID:9738473 ; RO:0002525 CHR:9606chr1q32.2 ; RO:0003303 OMIM:135500 ; - oboInOwl:hasDbXref UMLS:C1416571 ; oboInOwl:hasExactSynonym "KCNH1", "ether-a-go-go, drosophila, homolog of", "kv10.1", "potassium channel, voltage-gated, subfamily h, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3756 ; - skos:exactMatch HGNC_symbol:KCNH1 ; + skos:exactMatch UMLS:C1416571, + HGNC:6250, + HGNC_symbol:KCNH1 ; biolink:category biolink:Gene . OMIM:603306 a owl:Class ; @@ -171156,7 +176452,6 @@ OMIM:603306 a owl:Class ; PMID:9545521, PMID:9545526, PMID:9733105 ; - oboInOwl:hasDbXref UMLS:C1420638 ; oboInOwl:hasExactSynonym "TCF21", "capsulin", "epicardin", @@ -171164,7 +176459,9 @@ OMIM:603306 a owl:Class ; "transcription factor 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6943 ; - skos:exactMatch HGNC_symbol:TCF21 ; + skos:exactMatch UMLS:C1420638, + HGNC:11632, + HGNC_symbol:TCF21 ; biolink:category biolink:Gene . OMIM:603307 a owl:Class ; @@ -171177,14 +176474,15 @@ OMIM:603307 a owl:Class ; PMID:9787085 ; RO:0002525 CHR:9606chr20p12.1 ; RO:0003303 OMIM:611391 ; - oboInOwl:hasDbXref UMLS:C1412789 ; oboInOwl:hasExactSynonym "BFSP1", "beaded filament structural protein 1", "cytoskeletal protein, 115-kd", "filensin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:631 ; - skos:exactMatch HGNC_symbol:BFSP1 ; + skos:exactMatch UMLS:C1412789, + HGNC:1040, + HGNC_symbol:BFSP1 ; biolink:category biolink:Gene . OMIM:603308 a owl:Class ; @@ -171194,13 +176492,14 @@ OMIM:603308 a owl:Class ; PMID:15728537, PMID:9563472, PMID:9727401 ; - oboInOwl:hasDbXref UMLS:C1413816 ; oboInOwl:hasExactSynonym "CTSV", "cathepsin 5", "cathepsin l2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1515 ; - skos:exactMatch HGNC_symbol:CTSV ; + skos:exactMatch UMLS:C1413816, + HGNC:2538, + HGNC_symbol:CTSV ; biolink:category biolink:Gene . OMIM:603309 a owl:Class ; @@ -171211,14 +176510,15 @@ OMIM:603309 a owl:Class ; PMID:29021403 ; RO:0002525 CHR:9606chr7p14.1 ; RO:0003303 OMIM:617360 ; - oboInOwl:hasDbXref UMLS:C1413262 ; oboInOwl:hasExactSynonym "CDK13", "cell division controller, cholinesterase-related", "cell division cycle 2-like 5", "cyclin-dependent kinase 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8621 ; - skos:exactMatch HGNC_symbol:CDK13 ; + skos:exactMatch UMLS:C1413262, + HGNC:1733, + HGNC_symbol:CDK13 ; biolink:category biolink:Gene . OMIM:603310 a owl:Class ; @@ -171232,12 +176532,13 @@ OMIM:603310 a owl:Class ; PMID:9642111, PMID:9714779, PMID:9716380 ; - oboInOwl:hasDbXref UMLS:C1418424 ; oboInOwl:hasExactSynonym "PDE5A", "phosphodiesterase 5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8654 ; - skos:exactMatch HGNC_symbol:PDE5A ; + skos:exactMatch UMLS:C1418424, + HGNC:8784, + HGNC_symbol:PDE5A ; biolink:category biolink:Gene . OMIM:603311 a owl:Class ; @@ -171247,26 +176548,28 @@ OMIM:603311 a owl:Class ; PMID:9405610, PMID:9573348, PMID:9722556 ; - oboInOwl:hasDbXref UMLS:C1332727 ; oboInOwl:hasExactSynonym "CDC7", "cell division cycle 7", "cell division cycle 7, s. cerevisiae, homolog-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8317 ; - skos:exactMatch HGNC_symbol:CDC7 ; + skos:exactMatch UMLS:C1332727, + HGNC:1745, + HGNC_symbol:CDC7 ; biolink:category biolink:Gene . OMIM:603312 a owl:Class ; rdfs:label "BBOX1" ; IAO:0000142 PMID:17110165, PMID:9753662 ; - oboInOwl:hasDbXref UMLS:C1412745 ; oboInOwl:hasExactSynonym "BBOX1", "butyrobetaine-gamma,2-oxoglutarate dioxygenase 1", "gamma-butyrobetaine hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8424 ; - skos:exactMatch HGNC_symbol:BBOX1 ; + skos:exactMatch UMLS:C1412745, + HGNC:964, + HGNC_symbol:BBOX1 ; biolink:category biolink:Gene . OMIM:603313 a owl:Class ; @@ -171278,8 +176581,6 @@ OMIM:603313 a owl:Class ; PMID:9722534 ; RO:0002525 CHR:9606chr12q12 ; RO:0003303 OMIM:613688 ; - oboInOwl:hasDbXref UMLS:C1538264, - UMLS:C4016828 ; oboInOwl:hasExactSynonym "ALG10B", "alg10 alpha-1,2-glucosyltransferase B", "alg10, s. cerevisiae, homolog of", @@ -171287,7 +176588,10 @@ OMIM:603313 a owl:Class ; "potassium channel regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144245 ; - skos:exactMatch HGNC_symbol:ALG10B ; + skos:exactMatch UMLS:C1538264, + UMLS:C4016828, + HGNC:31088, + HGNC_symbol:ALG10B ; biolink:category biolink:Gene . OMIM:603315 a owl:Class ; @@ -171301,13 +176605,14 @@ OMIM:603315 a owl:Class ; PMID:16014415, PMID:7488079, PMID:9712909 ; - oboInOwl:hasDbXref UMLS:C1414814 ; oboInOwl:hasExactSynonym "NCS1", "frequenin, drosophila, homolog of", "neuronal calcium sensor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23413 ; - skos:exactMatch HGNC_symbol:NCS1 ; + skos:exactMatch UMLS:C1414814, + HGNC:3953, + HGNC_symbol:NCS1 ; biolink:category biolink:Gene . OMIM:603316 a owl:Class ; @@ -171315,13 +176620,14 @@ OMIM:603316 a owl:Class ; IAO:0000142 PMID:11893746, PMID:19965467, PMID:9689047 ; - oboInOwl:hasDbXref UMLS:C1425425 ; oboInOwl:hasExactSynonym "CMAS", "cmp-neu5ac synthetase", "cytidine 5-prime-monophosphate n-acetylneuraminic acid synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55907 ; - skos:exactMatch HGNC_symbol:CMAS ; + skos:exactMatch UMLS:C1425425, + HGNC:18290, + HGNC_symbol:CMAS ; biolink:category biolink:Gene . OMIM:603318 a owl:Class ; @@ -171333,39 +176639,42 @@ OMIM:603319 a owl:Class ; IAO:0000142 PMID:12832069, PMID:9742942, PMID:9931420 ; - oboInOwl:hasDbXref UMLS:C1412428 ; oboInOwl:hasExactSynonym "ANXA9", "annexin 31, formerly", "annexin a9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8416 ; - skos:exactMatch HGNC_symbol:ANXA9 ; + skos:exactMatch UMLS:C1412428, + HGNC:547, + HGNC_symbol:ANXA9 ; biolink:category biolink:Gene . OMIM:603320 a owl:Class ; rdfs:label "MMP23A" ; IAO:0000142 PMID:9740677, PMID:9750192 ; - oboInOwl:hasDbXref UMLS:C1417209 ; oboInOwl:hasExactSynonym "MMP23A", "matrix metalloproteinase 21, formerly", "matrix metalloproteinase 23a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8511 ; - skos:exactMatch HGNC_symbol:MMP23A ; + skos:exactMatch UMLS:C1417209, + HGNC:7170, + HGNC_symbol:MMP23A ; biolink:category biolink:Gene . OMIM:603321 a owl:Class ; rdfs:label "MMP23B" ; IAO:0000142 PMID:9740677, PMID:9750192 ; - oboInOwl:hasDbXref UMLS:C1417210 ; oboInOwl:hasExactSynonym "MMP23B", "matrix metalloproteinase 22, formerly", "matrix metalloproteinase 23b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8510 ; - skos:exactMatch HGNC_symbol:MMP23B ; + skos:exactMatch UMLS:C1417210, + HGNC:7171, + HGNC_symbol:MMP23B ; biolink:category biolink:Gene . OMIM:603322 a owl:Class ; @@ -171375,20 +176684,21 @@ OMIM:603322 a owl:Class ; PMID:17948130, PMID:9760212, PMID:9763677 ; - oboInOwl:hasDbXref UMLS:C1417638 ; oboInOwl:hasExactSynonym "NDUFB6", "complex i, mitochondrial respiratory chain, b17 subunit", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4712 ; - skos:exactMatch HGNC_symbol:NDUFB6 ; + skos:exactMatch UMLS:C1417638, + HGNC:7701, + HGNC_symbol:NDUFB6 ; biolink:category biolink:Gene . OMIM:603323 a owl:Class ; rdfs:label "muscular dystrophy, congenital, with cerebellar atrophy" ; IAO:0000142 PMID:9596013 ; - oboInOwl:hasDbXref UMLS:C1864028 ; - oboInOwl:hasExactSynonym "muscular dystrophy, congenital, with cerebellar atrophy" . + oboInOwl:hasExactSynonym "muscular dystrophy, congenital, with cerebellar atrophy" ; + skos:exactMatch UMLS:C1864028 . OMIM:603324 a owl:Class ; rdfs:label "GJB3" ; @@ -171412,9 +176722,6 @@ OMIM:603324 a owl:Class ; PMID:9843210 ; RO:0002525 CHR:9606chr1p34.3 ; RO:0003303 OMIM:133200 ; - oboInOwl:hasDbXref UMLS:C1415078, - UMLS:C1846647, - UMLS:C3148751 ; oboInOwl:hasExactSynonym "GJB3", "connexin 31", "deafness, autosomal dominant, with peripheral neuropathy", @@ -171423,7 +176730,11 @@ OMIM:603324 a owl:Class ; "gap junction protein, beta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2707 ; - skos:exactMatch HGNC_symbol:GJB3 ; + skos:exactMatch UMLS:C1415078, + UMLS:C1846647, + UMLS:C3148751, + HGNC:4285, + HGNC_symbol:GJB3 ; biolink:category biolink:Gene . OMIM:603325 a owl:Class ; @@ -171435,7 +176746,6 @@ OMIM:603325 a owl:Class ; PMID:19151759, PMID:9275233, PMID:9452470 ; - oboInOwl:hasDbXref UMLS:C1418835 ; oboInOwl:hasExactSynonym "PPP1R9B", "neurabin 2", "protein phosphatase 1, regulatory subunit 9", @@ -171443,30 +176753,34 @@ OMIM:603325 a owl:Class ; "spinophilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84687 ; - skos:exactMatch HGNC_symbol:PPP1R9B ; + skos:exactMatch UMLS:C1418835, + HGNC:9298, + HGNC_symbol:PPP1R9B ; biolink:category biolink:Gene . OMIM:603326 a owl:Class ; rdfs:label "PPP1R3D" ; IAO:0000142 PMID:9414128 ; - oboInOwl:hasDbXref UMLS:C1418831 ; oboInOwl:hasExactSynonym "PPP1R3D", "protein phosphatase 1, regulatory subunit 3d", "protein phosphatase 1, regulatory subunit 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5509 ; - skos:exactMatch HGNC_symbol:PPP1R3D ; + skos:exactMatch UMLS:C1418831, + HGNC:9294, + HGNC_symbol:PPP1R3D ; biolink:category biolink:Gene . OMIM:603327 a owl:Class ; rdfs:label "RANBP3" ; IAO:0000142 PMID:9637251 ; - oboInOwl:hasDbXref UMLS:C1419261 ; oboInOwl:hasExactSynonym "RANBP3", "ran-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8498 ; - skos:exactMatch HGNC_symbol:RANBP3 ; + skos:exactMatch UMLS:C1419261, + HGNC:9850, + HGNC_symbol:RANBP3 ; biolink:category biolink:Gene . OMIM:603328 a owl:Class ; @@ -171475,13 +176789,14 @@ OMIM:603328 a owl:Class ; PMID:16717192, PMID:28572454, PMID:9790759 ; - oboInOwl:hasDbXref UMLS:C1417335 ; oboInOwl:hasExactSynonym "MSI1", "musashi RNA binding protein 1", "musashi, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4440 ; - skos:exactMatch HGNC_symbol:MSI1 ; + skos:exactMatch UMLS:C1417335, + HGNC:7330, + HGNC_symbol:MSI1 ; biolink:category biolink:Gene . OMIM:603329 a owl:Class ; @@ -171499,14 +176814,15 @@ OMIM:603331 a owl:Class ; PMID:8812413 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:618492 ; - oboInOwl:hasDbXref UMLS:C1825007 ; oboInOwl:hasExactSynonym "DYNC1I2", "dnci2", "dynein, cytoplasmic 1, intermediate chain 2", "ic2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1781 ; - skos:exactMatch HGNC_symbol:DYNC1I2 ; + skos:exactMatch UMLS:C1825007, + HGNC:2964, + HGNC_symbol:DYNC1I2 ; biolink:category biolink:Gene . OMIM:603332 a owl:Class ; @@ -171524,7 +176840,6 @@ OMIM:603332 a owl:Class ; PMID:9373155 ; RO:0002525 CHR:9606chr3p21.1 ; RO:0003303 OMIM:617576 ; - oboInOwl:hasDbXref UMLS:C1414092 ; oboInOwl:hasExactSynonym "DNAH1", "dnahc1", "dynein, axonemal, heavy chain 1", @@ -171532,7 +176847,9 @@ OMIM:603332 a owl:Class ; "hl11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25981 ; - skos:exactMatch HGNC_symbol:DNAH1 ; + skos:exactMatch UMLS:C1414092, + HGNC:2940, + HGNC_symbol:DNAH1 ; biolink:category biolink:Gene . OMIM:603333 a owl:Class ; @@ -171543,27 +176860,29 @@ OMIM:603333 a owl:Class ; PMID:9256245 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:619094 ; - oboInOwl:hasDbXref UMLS:C1414099, - UMLS:C5436791 ; oboInOwl:hasExactSynonym "DNAH2", "dnahc2", "dynein, axonemal, heavy chain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146754 ; - skos:exactMatch HGNC_symbol:DNAH2 ; + skos:exactMatch UMLS:C1414099, + UMLS:C5436791, + HGNC:2948, + HGNC_symbol:DNAH2 ; biolink:category biolink:Gene . OMIM:603334 a owl:Class ; rdfs:label "DNAH3" ; IAO:0000142 PMID:11175280, PMID:9256245 ; - oboInOwl:hasDbXref UMLS:C1414100 ; oboInOwl:hasExactSynonym "DNAH3", "dnahc3b", "dynein, axonemal, heavy chain 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55567 ; - skos:exactMatch HGNC_symbol:DNAH3 ; + skos:exactMatch UMLS:C1414100, + HGNC:2949, + HGNC_symbol:DNAH3 ; biolink:category biolink:Gene . OMIM:603335 a owl:Class ; @@ -171581,13 +176900,14 @@ OMIM:603335 a owl:Class ; PMID:9256245 ; RO:0002525 CHR:9606chr5p15.2 ; RO:0003303 OMIM:608644 ; - oboInOwl:hasDbXref UMLS:C1414101 ; oboInOwl:hasExactSynonym "DNAH5", "dynein, axonemal, heavy chain 5", "hl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1767 ; - skos:exactMatch HGNC_symbol:DNAH5 ; + skos:exactMatch UMLS:C1414101, + HGNC:2950, + HGNC_symbol:DNAH5 ; biolink:category biolink:Gene . OMIM:603336 a owl:Class ; @@ -171598,14 +176918,15 @@ OMIM:603336 a owl:Class ; PMID:26918822, PMID:28206990, PMID:8812413 ; - oboInOwl:hasDbXref UMLS:C1414102 ; oboInOwl:hasExactSynonym "DNAH6", "dynein, axonemal, heavy chain 6", "hl2", "kiaa1697" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1768 ; - skos:exactMatch HGNC_symbol:DNAH6 ; + skos:exactMatch UMLS:C1414102, + HGNC:2951, + HGNC_symbol:DNAH6 ; biolink:category biolink:Gene . OMIM:603337 a owl:Class ; @@ -171620,15 +176941,16 @@ OMIM:603337 a owl:Class ; PMID:9373155 ; RO:0002525 CHR:9606chr6p21.2 ; RO:0003303 OMIM:619095 ; - oboInOwl:hasDbXref UMLS:C1414103, - UMLS:C2986382, - UMLS:C5436799 ; oboInOwl:hasExactSynonym "DNAH8", "dynein, axonemal, heavy chain 8", "hdhc9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1769 ; - skos:exactMatch HGNC_symbol:DNAH8 ; + skos:exactMatch UMLS:C1414103, + UMLS:C2986382, + UMLS:C5436799, + HGNC:2952, + HGNC_symbol:DNAH8 ; biolink:category biolink:Gene . OMIM:603338 a owl:Class ; @@ -171642,7 +176964,6 @@ OMIM:603340 a owl:Class ; PMID:8812413, PMID:9256245, PMID:9373155 ; - oboInOwl:hasDbXref UMLS:C1414095 ; oboInOwl:hasExactSynonym "DNAH12", "dhc3", "dnahc3", @@ -171651,20 +176972,23 @@ OMIM:603340 a owl:Class ; "hl19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201625 ; - skos:exactMatch HGNC_symbol:DNAH12 ; + skos:exactMatch UMLS:C1414095, + HGNC:2943, + HGNC_symbol:DNAH12 ; biolink:category biolink:Gene . OMIM:603341 a owl:Class ; rdfs:label "DNAH14" ; IAO:0000142 PMID:15937072, PMID:8812413 ; - oboInOwl:hasDbXref UMLS:C1414097 ; oboInOwl:hasExactSynonym "DNAH14", "dynein, axonemal, heavy chain 14", "hl18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127602 ; - skos:exactMatch HGNC_symbol:DNAH14 ; + skos:exactMatch UMLS:C1414097, + HGNC:2945, + HGNC_symbol:DNAH14 ; biolink:category biolink:Gene . OMIM:603343 a owl:Class ; @@ -171673,14 +176997,15 @@ OMIM:603343 a owl:Class ; PMID:17172455, PMID:9256445, PMID:9370289 ; - oboInOwl:hasDbXref UMLS:C1419246 ; oboInOwl:hasExactSynonym "RAE1", "RNA export 1, s. pombe, homolog of", "mrna-binding protein, 41-kd", "ribonucleic acid export protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8480 ; - skos:exactMatch HGNC_symbol:RAE1 ; + skos:exactMatch UMLS:C1419246, + HGNC:9828, + HGNC_symbol:RAE1 ; biolink:category biolink:Gene . OMIM:603344 a owl:Class ; @@ -171689,7 +177014,6 @@ OMIM:603344 a owl:Class ; PMID:1512287, PMID:7831324, PMID:9478999 ; - oboInOwl:hasDbXref UMLS:C1864009 ; oboInOwl:hasExactSynonym "USO1", "tap/p115", "transcytosis-associated protein", @@ -171698,20 +177022,23 @@ OMIM:603344 a owl:Class ; "vesicle docking protein, 115-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8615 ; - skos:exactMatch HGNC_symbol:USO1 ; + skos:exactMatch UMLS:C1864009, + HGNC:30904, + HGNC_symbol:USO1 ; biolink:category biolink:Gene . OMIM:603346 a owl:Class ; rdfs:label "NPAS1" ; IAO:0000142 PMID:9012850, PMID:9079689 ; - oboInOwl:hasDbXref UMLS:C1417773 ; oboInOwl:hasExactSynonym "NPAS1", "member of pas superfamily 5", "neuronal pas domain protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4861 ; - skos:exactMatch HGNC_symbol:NPAS1 ; + skos:exactMatch UMLS:C1417773, + HGNC:7894, + HGNC_symbol:NPAS1 ; biolink:category biolink:Gene . OMIM:603347 a owl:Class ; @@ -171728,13 +177055,14 @@ OMIM:603347 a owl:Class ; PMID:25956372, PMID:9012850, PMID:9079689 ; - oboInOwl:hasDbXref UMLS:C1417774 ; oboInOwl:hasExactSynonym "NPAS2", "member of pas superfamily 4", "neuronal pas domain protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4862 ; - skos:exactMatch HGNC_symbol:NPAS2 ; + skos:exactMatch UMLS:C1417774, + HGNC:7895, + HGNC_symbol:NPAS2 ; biolink:category biolink:Gene . OMIM:603348 a owl:Class ; @@ -171805,14 +177133,15 @@ OMIM:603348 a owl:Class ; PMID:9558407, PMID:9782081, PMID:9923855 ; - oboInOwl:hasDbXref UMLS:C1333897 ; oboInOwl:hasExactSynonym "HIF1A", "hif1-alpha", "hypoxia-inducible factor 1, alpha subunit", "member of pas superfamily 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3091 ; - skos:exactMatch HGNC_symbol:HIF1A ; + skos:exactMatch UMLS:C1333897, + HGNC:4910, + HGNC_symbol:HIF1A ; biolink:category biolink:Gene . OMIM:603349 a owl:Class ; @@ -171847,7 +177176,6 @@ OMIM:603349 a owl:Class ; PMID:9808618 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:611783 ; - oboInOwl:hasDbXref UMLS:C1414421 ; oboInOwl:hasExactSynonym "EPAS1", "endothelial pas domain protein 1", "hif2-alpha", @@ -171855,7 +177183,9 @@ OMIM:603349 a owl:Class ; "member of pas superfamily 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2034 ; - skos:exactMatch HGNC_symbol:EPAS1 ; + skos:exactMatch UMLS:C1414421, + HGNC:3374, + HGNC_symbol:EPAS1 ; biolink:category biolink:Gene . OMIM:603350 a owl:Class ; @@ -171865,14 +177195,15 @@ OMIM:603350 a owl:Class ; PMID:2470369, PMID:29117179, PMID:9790745 ; - oboInOwl:hasDbXref UMLS:C1417913 ; oboInOwl:hasExactSynonym "2-prime,5-prime-oligoadenylate synthetase 2", "2-prime,5-prime-oligoadenylate synthetase, 69-kd", "OAS2", "p69" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4939 ; - skos:exactMatch HGNC_symbol:OAS2 ; + skos:exactMatch UMLS:C1417913, + HGNC:8087, + HGNC_symbol:OAS2 ; biolink:category biolink:Gene . OMIM:603351 a owl:Class ; @@ -171880,14 +177211,15 @@ OMIM:603351 a owl:Class ; IAO:0000142 PMID:19923450, PMID:2440675, PMID:9790745 ; - oboInOwl:hasDbXref UMLS:C1417914 ; oboInOwl:hasExactSynonym "2-prime,5-prime-oligoadenylate synthetase 3", "2-prime,5-prime-oligoadenylate synthetase, 100-kd", "OAS3", "p100" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4940 ; - skos:exactMatch HGNC_symbol:OAS3 ; + skos:exactMatch UMLS:C1417914, + HGNC:8088, + HGNC_symbol:OAS3 ; biolink:category biolink:Gene . OMIM:603352 a owl:Class ; @@ -171922,14 +177254,15 @@ OMIM:603352 a owl:Class ; PMID:9422522, PMID:9556606, PMID:9859993 ; - oboInOwl:hasDbXref UMLS:C1332416 ; oboInOwl:hasExactSynonym "BIRC5", "apoptosis inhibitor 4", "baculoviral iap repeat-containing protein 5", "survivin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:332 ; - skos:exactMatch HGNC_symbol:BIRC5 ; + skos:exactMatch UMLS:C1332416, + HGNC:593, + HGNC_symbol:BIRC5 ; biolink:category biolink:Gene . OMIM:603353 a owl:Class ; @@ -171942,7 +177275,6 @@ OMIM:603353 a owl:Class ; PMID:12808454, PMID:16301216, PMID:9610397 ; - oboInOwl:hasDbXref UMLS:C1420197 ; oboInOwl:hasExactSynonym "SLC4A7", "sodium bicarbonate cotransporter 2", "sodium bicarbonate cotransporter 3", @@ -171951,19 +177283,22 @@ OMIM:603353 a owl:Class ; "solute carrier family 4 (sodium bicarbonate cotransporter), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9497 ; - skos:exactMatch HGNC_symbol:SLC4A7 ; + skos:exactMatch UMLS:C1420197, + HGNC:11033, + HGNC_symbol:SLC4A7 ; biolink:category biolink:Gene . OMIM:603354 a owl:Class ; rdfs:label "GBX1" ; IAO:0000142 PMID:1720547, PMID:8097731 ; - oboInOwl:hasDbXref UMLS:C1415006 ; oboInOwl:hasExactSynonym "GBX1", "gastrulation brain homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2636 ; - skos:exactMatch HGNC_symbol:GBX1 ; + skos:exactMatch UMLS:C1415006, + HGNC:4185, + HGNC_symbol:GBX1 ; biolink:category biolink:Gene . OMIM:603355 a owl:Class ; @@ -171982,14 +177317,15 @@ OMIM:603355 a owl:Class ; PMID:9809072 ; RO:0002525 CHR:9606chr16q23.3-q24.1 ; RO:0003303 OMIM:618392 ; - oboInOwl:hasDbXref UMLS:C1423502, - UMLS:C5193071 ; oboInOwl:hasExactSynonym "MBTPS1", "membrane-bound transcription factor protease, site 1", "site-1 protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8720 ; - skos:exactMatch HGNC_symbol:MBTPS1 ; + skos:exactMatch UMLS:C1423502, + UMLS:C5193071, + HGNC:15456, + HGNC_symbol:MBTPS1 ; biolink:category biolink:Gene . OMIM:603356 a owl:Class ; @@ -172000,14 +177336,15 @@ OMIM:603356 a owl:Class ; PMID:9763543 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:616969 ; - oboInOwl:hasDbXref UMLS:C1413205 ; oboInOwl:hasExactSynonym "CD164", "cd164 antigen", "endolyn", "sialomucin cd164" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8763 ; - skos:exactMatch HGNC_symbol:CD164 ; + skos:exactMatch UMLS:C1413205, + HGNC:1632, + HGNC_symbol:CD164 ; biolink:category biolink:Gene . OMIM:603357 a owl:Class ; @@ -172022,13 +177359,14 @@ OMIM:603357 a owl:Class ; PMID:9710452 ; RO:0002525 CHR:9606chr18q21.33 ; RO:0003303 OMIM:615598 ; - oboInOwl:hasDbXref UMLS:C1422259 ; oboInOwl:hasExactSynonym "SERPINB7", "mesangium-predominant gene", "serpin peptidase inhibitor, clade B (ovalbumin), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8710 ; - skos:exactMatch HGNC_symbol:SERPINB7 ; + skos:exactMatch UMLS:C1422259, + HGNC:13902, + HGNC_symbol:SERPINB7 ; biolink:category biolink:Gene . OMIM:603358 a owl:Class ; @@ -172044,12 +177382,12 @@ OMIM:603358 a owl:Class ; PMID:8230163, PMID:9482441, PMID:9792866 ; - oboInOwl:hasDbXref UMLS:C1864002 ; oboInOwl:hasExactSynonym "fellman syndrome", "finnish lethal neonatal metabolic syndrome", "gracile syndrome", "growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death", "lactic acidosis, finnish, with hepatic hemosiderosis" ; + skos:exactMatch UMLS:C1864002 ; biolink:category biolink:Disease . OMIM:603359 a owl:Class ; @@ -172062,13 +177400,14 @@ OMIM:603359 a owl:Class ; PMID:9860297 ; RO:0002525 CHR:9606chr9q33.2 ; RO:0003303 OMIM:619272 ; - oboInOwl:hasDbXref UMLS:C1417629 ; oboInOwl:hasExactSynonym "NDUFA8", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex 8", "nadh-ubiquinone oxidoreductase subunit a8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4702 ; - skos:exactMatch HGNC_symbol:NDUFA8 ; + skos:exactMatch UMLS:C1417629, + HGNC:7692, + HGNC_symbol:NDUFA8 ; biolink:category biolink:Gene . OMIM:603360 a owl:Class ; @@ -172081,27 +177420,29 @@ OMIM:603360 a owl:Class ; PMID:9922452 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:614877 ; - oboInOwl:hasDbXref UMLS:C1418476 ; oboInOwl:hasExactSynonym "PEX16", "peroxin 16", "peroxisome biogenesis factor 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9409 ; - skos:exactMatch HGNC_symbol:PEX16 ; + skos:exactMatch UMLS:C1418476, + HGNC:8857, + HGNC_symbol:PEX16 ; biolink:category biolink:Gene . OMIM:603361 a owl:Class ; rdfs:label "TNFRSF6B" ; IAO:0000142 PMID:10655513, PMID:9872321 ; - oboInOwl:hasDbXref UMLS:C1367454 ; oboInOwl:hasExactSynonym "TNFRSF6B", "decoy receptor 3", "tr6", "tumor necrosis factor receptor superfamily, member 6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8771 ; - skos:exactMatch HGNC_symbol:TNFRSF6B ; + skos:exactMatch UMLS:C1367454, + HGNC:11921, + HGNC_symbol:TNFRSF6B ; biolink:category biolink:Gene . OMIM:603362 a owl:Class ; @@ -172113,14 +177454,15 @@ OMIM:603362 a owl:Class ; PMID:9238017, PMID:9630982, PMID:9809064 ; - oboInOwl:hasDbXref UMLS:C1420027 ; oboInOwl:hasExactSynonym "SH3GL3", "endophilin a3", "sh3 domain, grb2-like, 3", "sh3p13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6457 ; - skos:exactMatch HGNC_symbol:SH3GL3 ; + skos:exactMatch UMLS:C1420027, + HGNC:10832, + HGNC_symbol:SH3GL3 ; biolink:category biolink:Gene . OMIM:603363 a owl:Class ; @@ -172128,14 +177470,15 @@ OMIM:603363 a owl:Class ; IAO:0000142 PMID:14667814, PMID:8626781, PMID:9201980 ; - oboInOwl:hasDbXref UMLS:C1413369 ; oboInOwl:hasExactSynonym "CGGBP1", "cgg-binding protein 1", "cgg-binding protein, 20-kd", "p20cggbp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8545 ; - skos:exactMatch HGNC_symbol:CGGBP1 ; + skos:exactMatch UMLS:C1413369, + HGNC:1888, + HGNC_symbol:CGGBP1 ; biolink:category biolink:Gene . OMIM:603364 a owl:Class ; @@ -172144,7 +177487,6 @@ OMIM:603364 a owl:Class ; PMID:17361132, PMID:9154810, PMID:9710581 ; - oboInOwl:hasDbXref UMLS:C1419994 ; oboInOwl:hasExactSynonym "SRSF3", "serine/arginine-rich splicing factor 3", "splicing factor, arginine/serine-rich, 20-kd", @@ -172152,18 +177494,21 @@ OMIM:603364 a owl:Class ; "splicing factor, serine/arginine-rich, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6428 ; - skos:exactMatch HGNC_symbol:SRSF3 ; + skos:exactMatch UMLS:C1419994, + HGNC:10785, + HGNC_symbol:SRSF3 ; biolink:category biolink:Gene . OMIM:603365 a owl:Class ; rdfs:label "HIRIP3" ; IAO:0000142 PMID:9710638 ; - oboInOwl:hasDbXref UMLS:C1415550 ; oboInOwl:hasExactSynonym "HIRIP3", "hira-interacting protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8479 ; - skos:exactMatch HGNC_symbol:HIRIP3 ; + skos:exactMatch UMLS:C1415550, + HGNC:4917, + HGNC_symbol:HIRIP3 ; biolink:category biolink:Gene . OMIM:603366 a owl:Class ; @@ -172182,7 +177527,6 @@ OMIM:603366 a owl:Class ; PMID:9114039, PMID:9560343, PMID:9615223 ; - oboInOwl:hasDbXref UMLS:C1420806 ; oboInOwl:hasExactSynonym "TNFRSF25", "apo3", "death receptor 3", @@ -172192,7 +177536,9 @@ OMIM:603366 a owl:Class ; "tumor necrosis factor receptor superfamily, member 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8718 ; - skos:exactMatch HGNC_symbol:TNFRSF25 ; + skos:exactMatch UMLS:C1420806, + HGNC:11910, + HGNC_symbol:TNFRSF25 ; biolink:category biolink:Gene . OMIM:603367 a owl:Class ; @@ -172219,15 +177565,16 @@ OMIM:603368 a owl:Class ; PMID:9422538 ; RO:0002525 CHR:9606chr7q21.2 ; RO:0003303 OMIM:616080 ; - oboInOwl:hasDbXref UMLS:C1413287, - UMLS:C1863997 ; oboInOwl:hasExactSynonym "CDK6", "cdk6/mll fusion gene", "cyclin-dependent kinase 6", "plstire" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1021 ; - skos:exactMatch HGNC_symbol:CDK6 ; + skos:exactMatch UMLS:C1413287, + UMLS:C1863997, + HGNC:1777, + HGNC_symbol:CDK6 ; biolink:category biolink:Gene . OMIM:603369 a owl:Class ; @@ -172239,13 +177586,14 @@ OMIM:603369 a owl:Class ; PMID:8001816, PMID:8840966, PMID:9636670 ; - oboInOwl:hasDbXref UMLS:C1332738 ; oboInOwl:hasExactSynonym "CDKN2C", "cyclin-dependent kinase inhibitor 2c", "p18(ink4c)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1031 ; - skos:exactMatch HGNC_symbol:CDKN2C ; + skos:exactMatch UMLS:C1332738, + HGNC:1789, + HGNC_symbol:CDKN2C ; biolink:category biolink:Gene . OMIM:603370 a owl:Class ; @@ -172261,14 +177609,15 @@ OMIM:603370 a owl:Class ; PMID:9737970 ; RO:0002525 CHR:9606chr4p14 ; RO:0003303 OMIM:618792 ; - oboInOwl:hasDbXref UMLS:C1442771, - UMLS:C5394081 ; oboInOwl:hasExactSynonym "UGDH", "udp-glucose dehydrogenase", "udpgdh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7358 ; - skos:exactMatch HGNC_symbol:UGDH ; + skos:exactMatch UMLS:C1442771, + UMLS:C5394081, + HGNC:12525, + HGNC_symbol:UGDH ; biolink:category biolink:Gene . OMIM:603371 a owl:Class ; @@ -172285,14 +177634,15 @@ OMIM:603371 a owl:Class ; PMID:9618489 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:253310 ; - oboInOwl:hasDbXref UMLS:C1415101 ; oboInOwl:hasExactSynonym "GLE1", "gle1, RNA export mediator", "gle1, s. cerevisiae, homolog of", "gle1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2733 ; - skos:exactMatch HGNC_symbol:GLE1 ; + skos:exactMatch UMLS:C1415101, + HGNC:4315, + HGNC_symbol:GLE1 ; biolink:category biolink:Gene . OMIM:603372 a owl:Class ; @@ -172357,9 +177707,6 @@ OMIM:603372 a owl:Class ; PMID:9589691, PMID:9854118 ; RO:0002525 CHR:9606chr14q31.1 ; - oboInOwl:hasDbXref UMLS:C1336679, - UMLS:C1863960, - UMLS:C1863961 ; oboInOwl:hasExactSynonym "TSHR", "lgr3", "thyroid adenoma, hyperfunctioning", @@ -172368,16 +177715,20 @@ OMIM:603372 a owl:Class ; "thyrotropin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7253 ; - skos:exactMatch HGNC_symbol:TSHR ; + skos:exactMatch UMLS:C1336679, + UMLS:C1863960, + UMLS:C1863961, + HGNC:12373, + HGNC_symbol:TSHR ; biolink:category biolink:Gene . OMIM:603373 a owl:Class ; rdfs:label "hyperthyroidism, familial gestational" ; IAO:0000142 PMID:9267761, PMID:9854118 ; - oboInOwl:hasDbXref UMLS:C1863959, - ORPHA:99819 ; oboInOwl:hasExactSynonym "hyperthyroidism, familial gestational" ; + skos:exactMatch UMLS:C1863959, + ORPHA:99819 ; biolink:category biolink:Disease . OMIM:603374 a owl:Class ; @@ -172400,21 +177751,22 @@ OMIM:603375 a owl:Class ; PMID:30996347, PMID:9730600, PMID:9836642 ; - oboInOwl:hasDbXref UMLS:C1335844 ; oboInOwl:hasExactSynonym "SMARCA5", "sucrose nonfermenting, yeast, homolog of", "swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 5", "wcrf135" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8467 ; - skos:exactMatch HGNC_symbol:SMARCA5 ; + skos:exactMatch UMLS:C1335844, + HGNC:11101, + HGNC_symbol:SMARCA5 ; biolink:category biolink:Gene . OMIM:603376 a owl:Class ; rdfs:label "long chain fatty acids, defect 1n transport of" ; IAO:0000142 PMID:3185635 ; - oboInOwl:hasDbXref UMLS:C1863958 ; - oboInOwl:hasExactSynonym "long chain fatty acids, defect 1n transport of" . + oboInOwl:hasExactSynonym "long chain fatty acids, defect 1n transport of" ; + skos:exactMatch UMLS:C1863958 . OMIM:603377 a owl:Class ; rdfs:label "SLC22A5" ; @@ -172452,27 +177804,29 @@ OMIM:603377 a owl:Class ; PMID:9916797 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:212140 ; - oboInOwl:hasDbXref UMLS:C0342788, - UMLS:C1420140, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "SLC22A5", "organic cation transporter 2", "solute carrier family 22 (organic cation transporter), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6584 ; - skos:exactMatch HGNC_symbol:SLC22A5 ; + skos:exactMatch UMLS:C0342788, + UMLS:C1420140, + UMLS:C4015968, + HGNC:10969, + HGNC_symbol:SLC22A5 ; biolink:category biolink:Gene . OMIM:603378 a owl:Class ; rdfs:label "SAP30" ; IAO:0000142 PMID:9651585, PMID:9702189 ; - oboInOwl:hasDbXref UMLS:C1419814 ; oboInOwl:hasExactSynonym "SAP30", "sin3-associated polypeptide, 30-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8819 ; - skos:exactMatch HGNC_symbol:SAP30 ; + skos:exactMatch UMLS:C1419814, + HGNC:10532, + HGNC_symbol:SAP30 ; biolink:category biolink:Gene . OMIM:603379 a owl:Class ; @@ -172489,7 +177843,6 @@ OMIM:603379 a owl:Class ; PMID:28073378, PMID:8051149, PMID:8670801 ; - oboInOwl:hasDbXref UMLS:C1416471 ; oboInOwl:hasExactSynonym "IQGAP1", "humorfa01", "iq motif-containing gtpase-activating protein 1", @@ -172498,7 +177851,9 @@ OMIM:603379 a owl:Class ; "sar1, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8826 ; - skos:exactMatch HGNC_symbol:IQGAP1 ; + skos:exactMatch UMLS:C1416471, + HGNC:6110, + HGNC_symbol:IQGAP1 ; biolink:category biolink:Gene . OMIM:603380 a owl:Class ; @@ -172508,14 +177863,15 @@ OMIM:603380 a owl:Class ; PMID:11104771, PMID:17237226, PMID:9753324 ; - oboInOwl:hasDbXref UMLS:C1425075 ; oboInOwl:hasExactSynonym "LIN7A", "lin7, c. elegans, homolog of, a", "mammalian lin7 homolog 1", "vertebrate lin7 homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8825 ; - skos:exactMatch HGNC_symbol:LIN7A ; + skos:exactMatch UMLS:C1425075, + HGNC:17787, + HGNC_symbol:LIN7A ; biolink:category biolink:Gene . OMIM:603381 a owl:Class ; @@ -172542,7 +177898,6 @@ OMIM:603381 a owl:Class ; PMID:9694715 ; RO:0002525 CHR:9606chr3p14.3 ; RO:0003303 OMIM:272460 ; - oboInOwl:hasDbXref UMLS:C1414636 ; oboInOwl:hasExactSynonym "FLNB", "actin-binding protein 276/278", "actin-binding protein, truncated", @@ -172552,7 +177907,9 @@ OMIM:603381 a owl:Class ; "truncated actin-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2317 ; - skos:exactMatch HGNC_symbol:FLNB ; + skos:exactMatch UMLS:C1414636, + HGNC:3755, + HGNC_symbol:FLNB ; biolink:category biolink:Gene . OMIM:603382 a owl:Class ; @@ -172568,13 +177925,14 @@ OMIM:603382 a owl:Class ; PMID:9916805 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:617442 ; - oboInOwl:hasDbXref UMLS:C1417334 ; oboInOwl:hasExactSynonym "MSH5", "muts homolog 5", "muts, e. coli, homolog of, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4439 ; - skos:exactMatch HGNC_symbol:MSH5 ; + skos:exactMatch UMLS:C1417334, + HGNC:7328, + HGNC_symbol:MSH5 ; biolink:category biolink:Gene . OMIM:603384 a owl:Class ; @@ -172590,7 +177948,6 @@ OMIM:603384 a owl:Class ; PMID:9620694 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:612621 ; - oboInOwl:hasDbXref UMLS:C1420546 ; oboInOwl:hasExactSynonym "SYNGAP1", "gtpase-activating protein, ras, synaptic, 135-kd, rat, homolog of", "ras-gtpase-activating protein, synaptic, 135-kd, rat, homolog of", @@ -172599,7 +177956,9 @@ OMIM:603384 a owl:Class ; "syngap, p135, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8831 ; - skos:exactMatch HGNC_symbol:SYNGAP1 ; + skos:exactMatch UMLS:C1420546, + HGNC:11497, + HGNC_symbol:SYNGAP1 ; biolink:category biolink:Gene . OMIM:603385 a owl:Class ; @@ -172611,20 +177970,21 @@ OMIM:603385 a owl:Class ; PMID:19360080, PMID:8626687, PMID:9694792 ; - oboInOwl:hasDbXref UMLS:C1412487 ; oboInOwl:hasExactSynonym "NAE1", "amyloid beta precursor protein-binding protein 1", "nedd8-activating enzyme e1, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8883 ; - skos:exactMatch HGNC_symbol:NAE1 ; + skos:exactMatch UMLS:C1412487, + HGNC:621, + HGNC_symbol:NAE1 ; biolink:category biolink:Gene . OMIM:603389 a owl:Class ; rdfs:label "osebold skeletal dysplasia/osteolysis syndrome" ; IAO:0000142 PMID:9843035 ; - oboInOwl:hasDbXref UMLS:C1863922 ; - oboInOwl:hasExactSynonym "osebold skeletal dysplasia/osteolysis syndrome" . + oboInOwl:hasExactSynonym "osebold skeletal dysplasia/osteolysis syndrome" ; + skos:exactMatch UMLS:C1863922 . OMIM:603390 a owl:Class ; rdfs:label "PDE8B" ; @@ -172639,12 +177999,13 @@ OMIM:603390 a owl:Class ; PMID:9784418 ; RO:0002525 CHR:9606chr5q13.3 ; RO:0003303 OMIM:609161 ; - oboInOwl:hasDbXref UMLS:C1418434 ; oboInOwl:hasExactSynonym "PDE8B", "phosphodiesterase 8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8622 ; - skos:exactMatch HGNC_symbol:PDE8B ; + skos:exactMatch UMLS:C1418434, + HGNC:8794, + HGNC_symbol:PDE8B ; biolink:category biolink:Gene . OMIM:603391 a owl:Class ; @@ -172657,26 +178018,27 @@ OMIM:603392 a owl:Class ; PMID:7478623, PMID:8521816, PMID:8816500 ; - oboInOwl:hasDbXref UMLS:C1332411 ; oboInOwl:hasExactSynonym "BIK", "bcl2-interacting killer", "nbk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:638 ; - skos:exactMatch HGNC_symbol:BIK ; + skos:exactMatch UMLS:C1332411, + HGNC:1051, + HGNC_symbol:BIK ; biolink:category biolink:Gene . OMIM:603393 a owl:Class ; rdfs:label "osteosclerotic chondrodysplasia, lethal, with intracellular inclusions" ; IAO:0000142 PMID:9856576 ; - oboInOwl:hasDbXref UMLS:C1863920 ; - oboInOwl:hasExactSynonym "osteosclerotic chondrodysplasia, lethal, with intracellular inclusions" . + oboInOwl:hasExactSynonym "osteosclerotic chondrodysplasia, lethal, with intracellular inclusions" ; + skos:exactMatch UMLS:C1863920 . OMIM:603394 a owl:Class ; rdfs:label "microcephaly, severe, with skeletal anomalies including posterior rib-gap defects" ; IAO:0000142 PMID:9856577 ; - oboInOwl:hasDbXref UMLS:C1863919 ; - oboInOwl:hasExactSynonym "microcephaly, severe, with skeletal anomalies including posterior rib-gap defects" . + oboInOwl:hasExactSynonym "microcephaly, severe, with skeletal anomalies including posterior rib-gap defects" ; + skos:exactMatch UMLS:C1863919 . OMIM:603395 a owl:Class ; rdfs:label "SPAG1" ; @@ -172686,31 +178048,33 @@ OMIM:603395 a owl:Class ; PMID:8849440 ; RO:0002525 CHR:9606chr8q22.2 ; RO:0003303 OMIM:615505 ; - oboInOwl:hasDbXref UMLS:C1420337 ; oboInOwl:hasExactSynonym "SPAG1", "sperm-associated antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6674 ; - skos:exactMatch HGNC_symbol:SPAG1 ; + skos:exactMatch UMLS:C1420337, + HGNC:11212, + HGNC_symbol:SPAG1 ; biolink:category biolink:Gene . OMIM:603396 a owl:Class ; rdfs:label "tonoki syndrome" ; IAO:0000142 PMID:2333912, PMID:9856572 ; - oboInOwl:hasDbXref UMLS:C1863918 ; - oboInOwl:hasExactSynonym "tonoki syndrome" . + oboInOwl:hasExactSynonym "tonoki syndrome" ; + skos:exactMatch UMLS:C1863918 . OMIM:603397 a owl:Class ; rdfs:label "ZNF282" ; IAO:0000142 PMID:9396811 ; - oboInOwl:hasDbXref UMLS:C1421768 ; oboInOwl:hasExactSynonym "ZNF282", "htlv-1 u5 repressive element-binding protein 1", "zinc finger protein 282" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8427 ; - skos:exactMatch HGNC_symbol:ZNF282 ; + skos:exactMatch UMLS:C1421768, + HGNC:13076, + HGNC_symbol:ZNF282 ; biolink:category biolink:Gene . OMIM:603398 a owl:Class ; @@ -172718,27 +178082,29 @@ OMIM:603398 a owl:Class ; IAO:0000142 PMID:10716946, PMID:11571650, PMID:9843955 ; - oboInOwl:hasDbXref UMLS:C1336990 ; oboInOwl:hasExactSynonym "CCN4", "cellular communication network factor 4", "wnt1-inducible signaling pathway protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8840 ; - skos:exactMatch HGNC_symbol:CCN4 ; + skos:exactMatch UMLS:C1336990, + HGNC:12769, + HGNC_symbol:CCN4 ; biolink:category biolink:Gene . OMIM:603399 a owl:Class ; rdfs:label "CCN5" ; IAO:0000142 PMID:21262769, PMID:9843955 ; - oboInOwl:hasDbXref UMLS:C1421508 ; oboInOwl:hasExactSynonym "CCN5", "ccn family, member 5", "cellular communication network factor 5", "wnt1-inducible signaling pathway protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8839 ; - skos:exactMatch HGNC_symbol:CCN5 ; + skos:exactMatch UMLS:C1421508, + HGNC:12770, + HGNC_symbol:CCN5 ; biolink:category biolink:Gene . OMIM:603400 a owl:Class ; @@ -172753,14 +178119,15 @@ OMIM:603400 a owl:Class ; PMID:9843955 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:208230 ; - oboInOwl:hasDbXref UMLS:C1421509, - UMLS:C5436955 ; oboInOwl:hasExactSynonym "CCN6", "cellular communication network factor 6", "wnt1-inducible signaling pathway protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8838 ; - skos:exactMatch HGNC_symbol:CCN6 ; + skos:exactMatch UMLS:C1421509, + UMLS:C5436955, + HGNC:12771, + HGNC_symbol:CCN6 ; biolink:category biolink:Gene . OMIM:603401 a owl:Class ; @@ -172783,7 +178150,6 @@ OMIM:603401 a owl:Class ; PMID:9931340 ; RO:0002525 CHR:9606chr5q14.1 ; RO:0003303 OMIM:608233 ; - oboInOwl:hasDbXref UMLS:C1412446 ; oboInOwl:hasExactSynonym "AP3B1", "adaptin, beta-3a", "adaptor-related protein complex 3, beta-1 subunit", @@ -172791,20 +178157,23 @@ OMIM:603401 a owl:Class ; "pearl, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8546 ; - skos:exactMatch HGNC_symbol:AP3B1 ; + skos:exactMatch UMLS:C1412446, + HGNC:566, + HGNC_symbol:AP3B1 ; biolink:category biolink:Gene . OMIM:603402 a owl:Class ; rdfs:label "ACOX3" ; IAO:0000142 PMID:9271077 ; - oboInOwl:hasDbXref UMLS:C1412130 ; oboInOwl:hasExactSynonym "ACOX3", "acyl-coa oxidase 3, pristanoyl", "acyl-coa oxidase, pristanoyl, peroxisomal", "pristanoyl-coa oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8310 ; - skos:exactMatch HGNC_symbol:ACOX3 ; + skos:exactMatch UMLS:C1412130, + HGNC:121, + HGNC_symbol:ACOX3 ; biolink:category biolink:Gene . OMIM:603403 a owl:Class ; @@ -172814,7 +178183,6 @@ OMIM:603403 a owl:Class ; PMID:7935475, PMID:9342318, PMID:9388478 ; - oboInOwl:hasDbXref UMLS:C1413955 ; oboInOwl:hasExactSynonym "DHX15", "RNA helicase 2", "dead/h-box 15", @@ -172824,7 +178192,9 @@ OMIM:603403 a owl:Class ; "prp43, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1665 ; - skos:exactMatch HGNC_symbol:DHX15 ; + skos:exactMatch UMLS:C1413955, + HGNC:2738, + HGNC_symbol:DHX15 ; biolink:category biolink:Gene . OMIM:603404 a owl:Class ; @@ -172832,12 +178202,13 @@ OMIM:603404 a owl:Class ; IAO:0000142 PMID:9071574, PMID:9186526, PMID:9722951 ; - oboInOwl:hasDbXref UMLS:C1421656 ; oboInOwl:hasExactSynonym "ZNF169", "zinc finger protein 169" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:169841 ; - skos:exactMatch HGNC_symbol:ZNF169 ; + skos:exactMatch UMLS:C1421656, + HGNC:12957, + HGNC_symbol:ZNF169 ; biolink:category biolink:Gene . OMIM:603405 a owl:Class ; @@ -172850,8 +178221,6 @@ OMIM:603405 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:618733 ; - oboInOwl:hasDbXref UMLS:C1333208, - UMLS:C5231483 ; oboInOwl:hasExactSynonym "DHX16", "dead/h-box 16", "deah-box helicase 16", @@ -172862,7 +178231,10 @@ OMIM:603405 a owl:Class ; "prp8, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8449 ; - skos:exactMatch HGNC_symbol:DHX16 ; + skos:exactMatch UMLS:C1333208, + UMLS:C5231483, + HGNC:2739, + HGNC_symbol:DHX16 ; biolink:category biolink:Gene . OMIM:603406 a owl:Class ; @@ -172877,8 +178249,6 @@ OMIM:603406 a owl:Class ; PMID:25278611, PMID:7744009, PMID:9115274 ; - oboInOwl:hasDbXref UMLS:C1823488, - UMLS:C1863898 ; oboInOwl:hasExactSynonym "TRIM24", "ptc6 chimeric oncogene", "transcriptional intermediary factor 1", @@ -172886,7 +178256,10 @@ OMIM:603406 a owl:Class ; "tripartite motif-containing protein 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8805 ; - skos:exactMatch HGNC_symbol:TRIM24 ; + skos:exactMatch UMLS:C1823488, + UMLS:C1863898, + HGNC:11812, + HGNC_symbol:TRIM24 ; biolink:category biolink:Gene . OMIM:603407 a owl:Class ; @@ -172894,7 +178267,6 @@ OMIM:603407 a owl:Class ; IAO:0000142 PMID:10543404, PMID:8524242, PMID:9030741 ; - oboInOwl:hasDbXref UMLS:C1418230 ; oboInOwl:hasExactSynonym "PABPC4", "activated-platelet protein 1", "poly(a)-binding protein 4", @@ -172903,7 +178275,9 @@ OMIM:603407 a owl:Class ; "polyadenylate-binding protein, inducible" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8761 ; - skos:exactMatch HGNC_symbol:PABPC4 ; + skos:exactMatch UMLS:C1418230, + HGNC:8557, + HGNC_symbol:PABPC4 ; biolink:category biolink:Gene . OMIM:603408 a owl:Class ; @@ -172913,14 +178287,15 @@ OMIM:603408 a owl:Class ; PMID:14739301, PMID:27680706, PMID:9813155 ; - oboInOwl:hasDbXref UMLS:C1414886 ; oboInOwl:hasExactSynonym "FZD1", "frizzled class receptor 1", "frizzled, drosophila, homolog of, 1", "fz1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8321 ; - skos:exactMatch HGNC_symbol:FZD1 ; + skos:exactMatch UMLS:C1414886, + HGNC:4038, + HGNC_symbol:FZD1 ; biolink:category biolink:Gene . OMIM:603409 a owl:Class ; @@ -172933,14 +178308,15 @@ OMIM:603409 a owl:Class ; PMID:9480858 ; RO:0002525 CHR:9606chr8q22.3 ; RO:0003303 OMIM:161050 ; - oboInOwl:hasDbXref UMLS:C0406443, - UMLS:C1333587 ; oboInOwl:hasExactSynonym "FZD6", "frizzled class receptor 6", "frizzled, drosophila, homolog of, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8323 ; - skos:exactMatch HGNC_symbol:FZD6 ; + skos:exactMatch UMLS:C0406443, + UMLS:C1333587, + HGNC:4044, + HGNC_symbol:FZD6 ; biolink:category biolink:Gene . OMIM:603410 a owl:Class ; @@ -172949,14 +178325,15 @@ OMIM:603410 a owl:Class ; PMID:27680706, PMID:9707618, PMID:9813155 ; - oboInOwl:hasDbXref UMLS:C1333588 ; oboInOwl:hasExactSynonym "FZD7", "frizzled class receptor 7", "frizzled, drosophila, homolog of, 7", "fze3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8324 ; - skos:exactMatch HGNC_symbol:FZD7 ; + skos:exactMatch UMLS:C1333588, + HGNC:4045, + HGNC_symbol:FZD7 ; biolink:category biolink:Gene . OMIM:603411 a owl:Class ; @@ -172968,10 +178345,10 @@ OMIM:603411 a owl:Class ; PMID:8910465, PMID:9083058, PMID:9556606 ; - oboInOwl:hasDbXref UMLS:C1414436 ; oboInOwl:hasExactSynonym "EPR1", "effector cell protease receptor 1" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1414436 ; biolink:category biolink:Gene . OMIM:603412 a owl:Class ; @@ -172982,7 +178359,6 @@ OMIM:603412 a owl:Class ; PMID:25107909, PMID:9092543, PMID:9418861 ; - oboInOwl:hasDbXref UMLS:C1413264 ; oboInOwl:hasExactSynonym "CDC42BPA", "cdc42-binding protein kinase, alpha", "cdc42bp-alpha", @@ -172992,21 +178368,24 @@ OMIM:603412 a owl:Class ; "protein kinase, serine/threonine, related to the myotonic dystrophy protein kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8476 ; - skos:exactMatch HGNC_symbol:CDC42BPA ; + skos:exactMatch UMLS:C1413264, + HGNC:1737, + HGNC_symbol:CDC42BPA ; biolink:category biolink:Gene . OMIM:603413 a owl:Class ; rdfs:label "TIAL1" ; IAO:0000142 PMID:1326761, PMID:9207209 ; - oboInOwl:hasDbXref UMLS:C1420731 ; oboInOwl:hasExactSynonym "TIAL1", "t cluster-binding protein", "tia1 cytotoxic granule-associated rna-binding protein-like 1", "tia1-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7073 ; - skos:exactMatch HGNC_symbol:TIAL1 ; + skos:exactMatch UMLS:C1420731, + HGNC:11804, + HGNC_symbol:TIAL1 ; biolink:category biolink:Gene . OMIM:603414 a owl:Class ; @@ -173014,13 +178393,14 @@ OMIM:603414 a owl:Class ; IAO:0000142 PMID:30046109, PMID:9286704, PMID:9615229 ; - oboInOwl:hasDbXref UMLS:C1420771 ; oboInOwl:hasExactSynonym "TM7SF2", "ang1", "transmembrane 7 superfamily, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7108 ; - skos:exactMatch HGNC_symbol:TM7SF2 ; + skos:exactMatch UMLS:C1420771, + HGNC:11863, + HGNC_symbol:TM7SF2 ; biolink:category biolink:Gene . OMIM:603415 a owl:Class ; @@ -173061,13 +178441,6 @@ OMIM:603415 a owl:Class ; PMID:9169448 ; RO:0002525 CHR:9606chr2q24.3 ; RO:0003303 OMIM:133020 ; - oboInOwl:hasDbXref UMLS:C0014805, - UMLS:C1419867, - UMLS:C1833661, - UMLS:C1855739, - UMLS:C3276706, - UMLS:C4012054, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "SCN9A", "nav1.7", "neuroendocrine sodium channel", @@ -173076,7 +178449,15 @@ OMIM:603415 a owl:Class ; "sodium voltage-gated channel, alpha subunit 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6335 ; - skos:exactMatch HGNC_symbol:SCN9A ; + skos:exactMatch UMLS:C0014805, + UMLS:C1419867, + UMLS:C1833661, + UMLS:C1855739, + UMLS:C3276706, + UMLS:C4012054, + UMLS:C4015968, + HGNC:10597, + HGNC_symbol:SCN9A ; biolink:category biolink:Gene . OMIM:603417 a owl:Class ; @@ -173084,14 +178465,15 @@ OMIM:603417 a owl:Class ; IAO:0000142 PMID:10094488, PMID:7619808, PMID:9441742 ; - oboInOwl:hasDbXref UMLS:C1419224 ; oboInOwl:hasExactSynonym "RABIF", "mammalian suppressor of sec4", "rab-interacting factor", "ras-specific guanine-releasing factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5877 ; - skos:exactMatch HGNC_symbol:RABIF ; + skos:exactMatch UMLS:C1419224, + HGNC:9797, + HGNC_symbol:RABIF ; biolink:category biolink:Gene . OMIM:603418 a owl:Class ; @@ -173099,14 +178481,15 @@ OMIM:603418 a owl:Class ; IAO:0000142 PMID:12071861, PMID:12879023, PMID:9576847 ; - oboInOwl:hasDbXref UMLS:C1332073 ; oboInOwl:hasExactSynonym "AKR7A2", "aflatoxin b1-aldehyde reductase", "aldo-keto reductase 7", "aldo-keto reductase family 7, member a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8574 ; - skos:exactMatch HGNC_symbol:AKR7A2 ; + skos:exactMatch UMLS:C1332073, + HGNC:389, + HGNC_symbol:AKR7A2 ; biolink:category biolink:Gene . OMIM:603419 a owl:Class ; @@ -173114,38 +178497,41 @@ OMIM:603419 a owl:Class ; IAO:0000142 PMID:11580898, PMID:28104892, PMID:9740675 ; - oboInOwl:hasDbXref UMLS:C1420016 ; oboInOwl:hasExactSynonym "SGTA", "small glutamine-rich tetratricopeptide repeat-containing protein", "small glutamine-rich tetratricopeptide repeat-containing protein, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6449 ; - skos:exactMatch HGNC_symbol:SGTA ; + skos:exactMatch UMLS:C1420016, + HGNC:10819, + HGNC_symbol:SGTA ; biolink:category biolink:Gene . OMIM:603420 a owl:Class ; rdfs:label "CALU" ; IAO:0000142 PMID:9218460, PMID:9598325 ; - oboInOwl:hasDbXref UMLS:C1413097 ; oboInOwl:hasExactSynonym "CALU", "calumenin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:813 ; - skos:exactMatch HGNC_symbol:CALU ; + skos:exactMatch UMLS:C1413097, + HGNC:1458, + HGNC_symbol:CALU ; biolink:category biolink:Gene . OMIM:603421 a owl:Class ; rdfs:label "TMEFF1" ; IAO:0000142 PMID:8752111, PMID:9730596 ; - oboInOwl:hasDbXref UMLS:C1420774 ; oboInOwl:hasExactSynonym "TMEFF1", "chromosome 9 open reading frame 2", "transmembrane protein with egf-like and 2 follistatin-like domains 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8577 ; - skos:exactMatch HGNC_symbol:TMEFF1 ; + skos:exactMatch UMLS:C1420774, + HGNC:11866, + HGNC_symbol:TMEFF1 ; biolink:category biolink:Gene . OMIM:603422 a owl:Class ; @@ -173156,13 +178542,14 @@ OMIM:603422 a owl:Class ; PMID:9573374 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:166710 ; - oboInOwl:hasDbXref UMLS:C1424333 ; oboInOwl:hasExactSynonym "PDLIM4", "lim domain protein ril", "pdz and 51m domain protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8572 ; - skos:exactMatch HGNC_symbol:PDLIM4 ; + skos:exactMatch UMLS:C1424333, + HGNC:16501, + HGNC_symbol:PDLIM4 ; biolink:category biolink:Gene . OMIM:603423 a owl:Class ; @@ -173193,14 +178580,15 @@ OMIM:603423 a owl:Class ; PMID:32103173, PMID:8033216, PMID:8921366 ; - oboInOwl:hasDbXref UMLS:C1335253 ; oboInOwl:hasExactSynonym "B lymphocyte-induced maturation protein 1", "PRDM1", "positive regulatory domain i-binding factor 1", "pr domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:639 ; - skos:exactMatch HGNC_symbol:PRDM1 ; + skos:exactMatch UMLS:C1335253, + HGNC:9346, + HGNC_symbol:PRDM1 ; biolink:category biolink:Gene . OMIM:603424 a owl:Class ; @@ -173215,7 +178603,6 @@ OMIM:603424 a owl:Class ; PMID:9687506 ; RO:0002525 CHR:9606chr2q31.2 ; RO:0003303 OMIM:612067 ; - oboInOwl:hasDbXref UMLS:C1418931 ; oboInOwl:hasExactSynonym "PRKRA", "pkr protein activator", "protein activator of interferon-induced protein kinase", @@ -173223,7 +178610,9 @@ OMIM:603424 a owl:Class ; "rax" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8575 ; - skos:exactMatch HGNC_symbol:PRKRA ; + skos:exactMatch UMLS:C1418931, + HGNC:9438, + HGNC_symbol:PRKRA ; biolink:category biolink:Gene . OMIM:603425 a owl:Class ; @@ -173231,12 +178620,13 @@ OMIM:603425 a owl:Class ; IAO:0000142 PMID:15269279, PMID:7814376, PMID:9624189 ; - oboInOwl:hasDbXref UMLS:C1412536 ; oboInOwl:hasExactSynonym "ARL1", "adp-ribosylation factor-like gtpase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400 ; - skos:exactMatch HGNC_symbol:ARL1 ; + skos:exactMatch UMLS:C1412536, + HGNC:692, + HGNC_symbol:ARL1 ; biolink:category biolink:Gene . OMIM:603426 a owl:Class ; @@ -173269,13 +178659,14 @@ OMIM:603426 a owl:Class ; PMID:9428527 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:604348 ; - oboInOwl:hasDbXref UMLS:C1418465 ; oboInOwl:hasExactSynonym "PER2", "period circadian regulator 2", "period, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8864 ; - skos:exactMatch HGNC_symbol:PER2 ; + skos:exactMatch UMLS:C1418465, + HGNC:8846, + HGNC_symbol:PER2 ; biolink:category biolink:Gene . OMIM:603427 a owl:Class ; @@ -173289,62 +178680,67 @@ OMIM:603427 a owl:Class ; PMID:9655499 ; RO:0002525 CHR:9606chr1p36.23 ; RO:0003303 OMIM:616882 ; - oboInOwl:hasDbXref UMLS:C1418466 ; oboInOwl:hasExactSynonym "PER3", "period circadian regulator 3", "period, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8863 ; - skos:exactMatch HGNC_symbol:PER3 ; + skos:exactMatch UMLS:C1418466, + HGNC:8847, + HGNC_symbol:PER3 ; biolink:category biolink:Gene . OMIM:603428 a owl:Class ; rdfs:label "ZNF207" ; IAO:0000142 PMID:9799612 ; - oboInOwl:hasDbXref UMLS:C1421695 ; oboInOwl:hasExactSynonym "ZNF207", "zinc finger protein 207" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7756 ; - skos:exactMatch HGNC_symbol:ZNF207 ; + skos:exactMatch UMLS:C1421695, + HGNC:12998, + HGNC_symbol:ZNF207 ; biolink:category biolink:Gene . OMIM:603429 a owl:Class ; rdfs:label "ABCF1" ; IAO:0000142 PMID:17964270, PMID:9790762 ; - oboInOwl:hasDbXref UMLS:C1412093 ; oboInOwl:hasExactSynonym "ABCF1", "atp-binding cassette 50", "atp-binding cassette, subfamily f, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23 ; - skos:exactMatch HGNC_symbol:ABCF1 ; + skos:exactMatch UMLS:C1412093, + HGNC:70, + HGNC_symbol:ABCF1 ; biolink:category biolink:Gene . OMIM:603430 a owl:Class ; rdfs:label "ZNF202" ; IAO:0000142 PMID:9790754 ; - oboInOwl:hasDbXref UMLS:C1421691 ; oboInOwl:hasExactSynonym "ZNF202", "zinc finger protein 202" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7753 ; - skos:exactMatch HGNC_symbol:ZNF202 ; + skos:exactMatch UMLS:C1421691, + HGNC:12994, + HGNC_symbol:ZNF202 ; biolink:category biolink:Gene . OMIM:603431 a owl:Class ; rdfs:label "EIF4H" ; IAO:0000142 PMID:8812460, PMID:9516461 ; - oboInOwl:hasDbXref UMLS:C1825047 ; oboInOwl:hasExactSynonym "EIF4H", "eukaryotic translation initiation factor 4h", "williams-beuren syndrome chromosome region 1", "wscr1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7458 ; - skos:exactMatch HGNC_symbol:EIF4H ; + skos:exactMatch UMLS:C1825047, + HGNC:12741, + HGNC_symbol:EIF4H ; biolink:category biolink:Gene . OMIM:603432 a owl:Class ; @@ -173356,7 +178752,6 @@ OMIM:603432 a owl:Class ; PMID:22608712, PMID:8812460, PMID:9799601 ; - oboInOwl:hasDbXref UMLS:C1824747 ; oboInOwl:hasExactSynonym "CLIP2", "cap-gly domain-containing linker protein 2", "cytoplasmic linker 2", @@ -173364,7 +178759,9 @@ OMIM:603432 a owl:Class ; "williams-beuren syndrome chromosome region 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7461 ; - skos:exactMatch HGNC_symbol:CLIP2 ; + skos:exactMatch UMLS:C1824747, + HGNC:2586, + HGNC_symbol:CLIP2 ; biolink:category biolink:Gene . OMIM:603433 a owl:Class ; @@ -173376,13 +178773,14 @@ OMIM:603433 a owl:Class ; PMID:9566884, PMID:9705341, PMID:9776743 ; - oboInOwl:hasDbXref UMLS:C1421635 ; oboInOwl:hasExactSynonym "ZNF143", "sph-binding factor", "zinc finger protein 143" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7702 ; - skos:exactMatch HGNC_symbol:ZNF143 ; + skos:exactMatch UMLS:C1421635, + HGNC:12928, + HGNC_symbol:ZNF143 ; biolink:category biolink:Gene . OMIM:603434 a owl:Class ; @@ -173399,7 +178797,6 @@ OMIM:603434 a owl:Class ; PMID:9205133, PMID:9670003, PMID:9852038 ; - oboInOwl:hasDbXref UMLS:C1418449 ; oboInOwl:hasExactSynonym "PEA15", "mammary transforming gene 1, mouse, homolog of", "mat1, mouse, homolog of", @@ -173407,7 +178804,9 @@ OMIM:603434 a owl:Class ; "phosphoprotein enriched 1n diabetes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8682 ; - skos:exactMatch HGNC_symbol:PEA15 ; + skos:exactMatch UMLS:C1418449, + HGNC:8822, + HGNC_symbol:PEA15 ; biolink:category biolink:Gene . OMIM:603435 a owl:Class ; @@ -173416,25 +178815,27 @@ OMIM:603435 a owl:Class ; PMID:18577359, PMID:19546506, PMID:9639555 ; - oboInOwl:hasDbXref UMLS:C1415279 ; oboInOwl:hasExactSynonym "GPX5", "glutathione peroxidase 5", "glutathione peroxidase, epididymal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2880 ; - skos:exactMatch HGNC_symbol:GPX5 ; + skos:exactMatch UMLS:C1415279, + HGNC:4557, + HGNC_symbol:GPX5 ; biolink:category biolink:Gene . OMIM:603436 a owl:Class ; rdfs:label "ZNF205" ; IAO:0000142 PMID:9787081 ; - oboInOwl:hasDbXref UMLS:C1421693 ; oboInOwl:hasExactSynonym "ZNF205", "zinc finger protein 205", "zinc finger protein 210" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7755 ; - skos:exactMatch HGNC_symbol:ZNF205 ; + skos:exactMatch UMLS:C1421693, + HGNC:12996, + HGNC_symbol:ZNF205 ; biolink:category biolink:Gene . OMIM:603437 a owl:Class ; @@ -173442,7 +178843,6 @@ OMIM:603437 a owl:Class ; IAO:0000142 PMID:2977358, PMID:7628487, PMID:8710501 ; - oboInOwl:hasDbXref UMLS:C1413746 ; oboInOwl:hasExactSynonym "YBX3", "cold-shock domain protein a", "cold-shock domain protein a1", @@ -173450,7 +178850,9 @@ OMIM:603437 a owl:Class ; "y-box binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8531 ; - skos:exactMatch HGNC_symbol:YBX3 ; + skos:exactMatch UMLS:C1413746, + HGNC:2428, + HGNC_symbol:YBX3 ; biolink:category biolink:Gene . OMIM:603438 a owl:Class ; @@ -173461,55 +178863,58 @@ OMIM:603438 a owl:Class ; PMID:8074157, PMID:8533809, PMID:9880222 ; - oboInOwl:hasDbXref UMLS:C1863881 ; oboInOwl:hasExactSynonym "giuffre-tsukahara syndrome", "radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation", - "tsukahara syndrome" . + "tsukahara syndrome" ; + skos:exactMatch UMLS:C1863881 . OMIM:603439 a owl:Class ; rdfs:label "expansile bone lesions" ; IAO:0000142 PMID:9916834 ; - oboInOwl:hasDbXref UMLS:C1863880 ; - oboInOwl:hasExactSynonym "expansile bone lesions" . + oboInOwl:hasExactSynonym "expansile bone lesions" ; + skos:exactMatch UMLS:C1863880 . OMIM:603440 a owl:Class ; rdfs:label "CDK17" ; IAO:0000142 PMID:1639063 ; - oboInOwl:hasDbXref UMLS:C1418393 ; oboInOwl:hasExactSynonym "CDK17", "cyclin-dependent kinase 17", "pctaire protein kinase 2", "pctaire2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5128 ; - skos:exactMatch HGNC_symbol:CDK17 ; + skos:exactMatch UMLS:C1418393, + HGNC:8750, + HGNC_symbol:CDK17 ; biolink:category biolink:Gene . OMIM:603441 a owl:Class ; rdfs:label "CDKL1" ; IAO:0000142 PMID:1639063, PMID:9000130 ; - oboInOwl:hasDbXref UMLS:C1413291 ; oboInOwl:hasExactSynonym "CDKL1", "cyclin-dependent kinase-like 1", "kkialre", "p42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8814 ; - skos:exactMatch HGNC_symbol:CDKL1 ; + skos:exactMatch UMLS:C1413291, + HGNC:1781, + HGNC_symbol:CDKL1 ; biolink:category biolink:Gene . OMIM:603442 a owl:Class ; rdfs:label "CDKL2" ; IAO:0000142 PMID:9000130 ; - oboInOwl:hasDbXref UMLS:C1332736 ; oboInOwl:hasExactSynonym "CDKL2", "cyclin-dependent kinase-like 2", "kkiamre", "p56" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8999 ; - skos:exactMatch HGNC_symbol:CDKL2 ; + skos:exactMatch UMLS:C1332736, + HGNC:1782, + HGNC_symbol:CDKL2 ; biolink:category biolink:Gene . OMIM:603443 a owl:Class ; @@ -173517,14 +178922,15 @@ OMIM:603443 a owl:Class ; IAO:0000142 PMID:15878329, PMID:25799061, PMID:9790748 ; - oboInOwl:hasDbXref UMLS:C1419803 ; oboInOwl:hasExactSynonym "VPS52", "suppressor of actin mutations 2, s. cerevisiae, homolog-like", "vacuolar protein sorting 52, s. cerevisiae, homolog of", "vps52 subunit of garp complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6293 ; - skos:exactMatch HGNC_symbol:VPS52 ; + skos:exactMatch UMLS:C1419803, + HGNC:10518, + HGNC_symbol:VPS52 ; biolink:category biolink:Gene . OMIM:603444 a owl:Class ; @@ -173532,14 +178938,15 @@ OMIM:603444 a owl:Class ; IAO:0000142 PMID:11239393, PMID:21817013, PMID:8125259 ; - oboInOwl:hasDbXref UMLS:C1414855 ; oboInOwl:hasExactSynonym "FUBP1", "far upstream element-binding protein", "far upstream element-binding protein 1", "fuse-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8880 ; - skos:exactMatch HGNC_symbol:FUBP1 ; + skos:exactMatch UMLS:C1414855, + HGNC:4004, + HGNC_symbol:FUBP1 ; biolink:category biolink:Gene . OMIM:603445 a owl:Class ; @@ -173553,7 +178960,6 @@ OMIM:603445 a owl:Class ; PMID:7590243, PMID:8940189, PMID:9136930 ; - oboInOwl:hasDbXref UMLS:C1416631 ; oboInOwl:hasExactSynonym "KHSRP", "far upstream element-binding protein 2", "fuse-binding protein 2", @@ -173561,7 +178967,9 @@ OMIM:603445 a owl:Class ; "ksrp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8570 ; - skos:exactMatch HGNC_symbol:KHSRP ; + skos:exactMatch UMLS:C1416631, + HGNC:6316, + HGNC_symbol:KHSRP ; biolink:category biolink:Gene . OMIM:603446 a owl:Class ; @@ -173570,21 +178978,22 @@ OMIM:603446 a owl:Class ; PMID:1481818, PMID:8291535, PMID:9880226 ; - oboInOwl:hasDbXref UMLS:C1863879 ; - oboInOwl:hasExactSynonym "oroacral syndrome, verloes-koulischer iia" . + oboInOwl:hasExactSynonym "oroacral syndrome, verloes-koulischer iia" ; + skos:exactMatch UMLS:C1863879 . OMIM:603447 a owl:Class ; rdfs:label "HRK" ; IAO:0000142 PMID:16239342, PMID:9130713 ; - oboInOwl:hasDbXref UMLS:C1333925 ; oboInOwl:hasExactSynonym "HRK", "bcl2-interacting protein", "dp5", "harakiri" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8739 ; - skos:exactMatch HGNC_symbol:HRK ; + skos:exactMatch UMLS:C1333925, + HGNC:5185, + HGNC_symbol:HRK ; biolink:category biolink:Gene . OMIM:603448 a owl:Class ; @@ -173609,13 +179018,14 @@ OMIM:603448 a owl:Class ; PMID:9790777 ; RO:0002525 CHR:9606chr1p32.2-p32.1 ; RO:0003303 OMIM:615945 ; - oboInOwl:hasDbXref UMLS:C1413898 ; oboInOwl:hasExactSynonym "DAB1", "dab adaptor protein 1", "disabled, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1600 ; - skos:exactMatch HGNC_symbol:DAB1 ; + skos:exactMatch UMLS:C1413898, + HGNC:2661, + HGNC_symbol:DAB1 ; biolink:category biolink:Gene . OMIM:603449 a owl:Class ; @@ -173629,7 +179039,6 @@ OMIM:603449 a owl:Class ; PMID:9774387, PMID:9813143, PMID:9843967 ; - oboInOwl:hasDbXref UMLS:C1419773 ; oboInOwl:hasExactSynonym "RUVBL1", "erythrocyte cytosolic protein, 54-kd", "nuclear matrix protein 238", @@ -173641,7 +179050,9 @@ OMIM:603449 a owl:Class ; "tbp-interacting protein, 49-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8607 ; - skos:exactMatch HGNC_symbol:RUVBL1 ; + skos:exactMatch UMLS:C1419773, + HGNC:10474, + HGNC_symbol:RUVBL1 ; biolink:category biolink:Gene . OMIM:603450 a owl:Class ; @@ -173652,13 +179063,14 @@ OMIM:603450 a owl:Class ; PMID:9315627, PMID:9503020, PMID:9799849 ; - oboInOwl:hasDbXref UMLS:C1416810 ; oboInOwl:hasExactSynonym "LDB2", "carboxyl-terminal 51m domain protein 1", "lim domain-binding 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9079 ; - skos:exactMatch HGNC_symbol:LDB2 ; + skos:exactMatch UMLS:C1416810, + HGNC:6533, + HGNC_symbol:LDB2 ; biolink:category biolink:Gene . OMIM:603451 a owl:Class ; @@ -173670,14 +179082,15 @@ OMIM:603451 a owl:Class ; PMID:30626972, PMID:9503020, PMID:9799849 ; - oboInOwl:hasDbXref UMLS:C1416809 ; oboInOwl:hasExactSynonym "LDB1", "carboxyl-terminal 51m domain protein 2", "lim domain-binding 1", "nuclear 51m domain interactor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8861 ; - skos:exactMatch HGNC_symbol:LDB1 ; + skos:exactMatch UMLS:C1416809, + HGNC:6532, + HGNC_symbol:LDB1 ; biolink:category biolink:Gene . OMIM:603452 a owl:Class ; @@ -173716,16 +179129,17 @@ OMIM:603453 a owl:Class ; PMID:9529147 ; RO:0002525 CHR:9606chr6p25.2 ; RO:0003303 OMIM:618108 ; - oboInOwl:hasDbXref UMLS:C1335623, - UMLS:C4748212, - UMLS:C5394286 ; oboInOwl:hasExactSynonym "RIPK1", "receptor-interacting protein", "receptor-interacting serine/threonine kinase 1", "rip1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8737 ; - skos:exactMatch HGNC_symbol:RIPK1 ; + skos:exactMatch UMLS:C1335623, + UMLS:C4748212, + UMLS:C5394286, + HGNC:10019, + HGNC_symbol:RIPK1 ; biolink:category biolink:Gene . OMIM:603454 a owl:Class ; @@ -173738,14 +179152,15 @@ OMIM:603454 a owl:Class ; PMID:9806843 ; RO:0002525 CHR:9606chr12q22 ; RO:0003303 OMIM:614499 ; - oboInOwl:hasDbXref UMLS:C1413699 ; oboInOwl:hasExactSynonym "CRADD", "casp2 and ripk1 domain-containing adaptor with death domain", "caspase and rip adaptor with death domain", "rip-associated ich1/ced3-homologous protein with death domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8738 ; - skos:exactMatch HGNC_symbol:CRADD ; + skos:exactMatch UMLS:C1413699, + HGNC:2340, + HGNC_symbol:CRADD ; biolink:category biolink:Gene . OMIM:603455 a owl:Class ; @@ -173759,7 +179174,6 @@ OMIM:603455 a owl:Class ; PMID:9575181, PMID:9642260, PMID:9705938 ; - oboInOwl:hasDbXref UMLS:C1335624 ; oboInOwl:hasExactSynonym "RIPK2", "card-containing ice-associated kinase", "receptor-interacting protein 2", @@ -173767,7 +179181,9 @@ OMIM:603455 a owl:Class ; "rip-like interacting clarp kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8767 ; - skos:exactMatch HGNC_symbol:RIPK2 ; + skos:exactMatch UMLS:C1335624, + HGNC:10020, + HGNC_symbol:RIPK2 ; biolink:category biolink:Gene . OMIM:603456 a owl:Class ; @@ -173777,14 +179193,15 @@ OMIM:603456 a owl:Class ; PMID:7559470, PMID:8406038, PMID:9782084 ; - oboInOwl:hasDbXref UMLS:C1824960 ; oboInOwl:hasExactSynonym "DPH2", "diphthamide biosynthesis protein 2", "dph2, s. cerevisiae, homolog of", "dph2-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1802 ; - skos:exactMatch HGNC_symbol:DPH2 ; + skos:exactMatch UMLS:C1824960, + HGNC:3004, + HGNC_symbol:DPH2 ; biolink:category biolink:Gene . OMIM:603457 a owl:Class ; @@ -173804,10 +179221,10 @@ OMIM:603457 a owl:Class ; PMID:6802865, PMID:8446727, PMID:8723126 ; - oboInOwl:hasDbXref UMLS:C1863878 ; oboInOwl:hasExactSynonym "BAMS", "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism", "bosma arhinia microphthalmia syndrome" ; + skos:exactMatch UMLS:C1863878 ; biolink:category biolink:Disease . OMIM:603458 a owl:Class ; @@ -173817,7 +179234,6 @@ OMIM:603458 a owl:Class ; PMID:9016658, PMID:9344654, PMID:9799595 ; - oboInOwl:hasDbXref UMLS:C1414373 ; oboInOwl:hasExactSynonym "ELAVL3", "elav-like rna-binding protein 3", "embryonic lethal, abnormal vision, drosophila, homolog-like 3", @@ -173825,7 +179241,9 @@ OMIM:603458 a owl:Class ; "paraneoplastic limbic encephalitis antigen 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1995 ; - skos:exactMatch HGNC_symbol:ELAVL3 ; + skos:exactMatch UMLS:C1414373, + HGNC:3314, + HGNC_symbol:ELAVL3 ; biolink:category biolink:Gene . OMIM:603459 a owl:Class ; @@ -173843,7 +179261,6 @@ OMIM:603460 a owl:Class ; PMID:8661152, PMID:9010203, PMID:9619503 ; - oboInOwl:hasDbXref UMLS:C1413285 ; oboInOwl:hasExactSynonym "CDK5R1", "cyclin-dependent kinase 5, regulatory partner, 35-kd", "cyclin-dependent kinase 5, regulatory subunit 1", @@ -173852,7 +179269,9 @@ OMIM:603460 a owl:Class ; "p35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8851 ; - skos:exactMatch HGNC_symbol:CDK5R1 ; + skos:exactMatch UMLS:C1413285, + HGNC:1775, + HGNC_symbol:CDK5R1 ; biolink:category biolink:Gene . OMIM:603461 a owl:Class ; @@ -173860,14 +179279,15 @@ OMIM:603461 a owl:Class ; IAO:0000142 PMID:11179667, PMID:15616564, PMID:7736578 ; - oboInOwl:hasDbXref UMLS:C1413255 ; oboInOwl:hasExactSynonym "CDC16", "anaphase-promoting complex, subunit 6", "cell division cycle 16", "cell division cycle 16, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8881 ; - skos:exactMatch HGNC_symbol:CDC16 ; + skos:exactMatch UMLS:C1413255, + HGNC:1720, + HGNC_symbol:CDC16 ; biolink:category biolink:Gene . OMIM:603462 a owl:Class ; @@ -173875,14 +179295,15 @@ OMIM:603462 a owl:Class ; IAO:0000142 PMID:11179667, PMID:9469815, PMID:9790767 ; - oboInOwl:hasDbXref UMLS:C1413257 ; oboInOwl:hasExactSynonym "CDC23", "anapc8", "anaphase-promoting complex, subunit 8", "cell division cycle 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8697 ; - skos:exactMatch HGNC_symbol:CDC23 ; + skos:exactMatch UMLS:C1413257, + HGNC:1724, + HGNC_symbol:CDC23 ; biolink:category biolink:Gene . OMIM:603463 a owl:Class ; @@ -173898,13 +179319,14 @@ OMIM:603464 a owl:Class ; PMID:8208557 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:617694 ; - oboInOwl:hasDbXref UMLS:C1332730 ; oboInOwl:hasExactSynonym "CDK10", "cyclin-dependent kinase 10", "pisslre" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8558 ; - skos:exactMatch HGNC_symbol:CDK10 ; + skos:exactMatch UMLS:C1332730, + HGNC:1770, + HGNC_symbol:CDK10 ; biolink:category biolink:Gene . OMIM:603465 a owl:Class ; @@ -173918,8 +179340,6 @@ OMIM:603465 a owl:Class ; PMID:9724329 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:617063 ; - oboInOwl:hasDbXref UMLS:C1332724, - UMLS:C4310738 ; oboInOwl:hasExactSynonym "CDC45", "cdc45, s. cerevisiae, homolog of", "cdc45-like", @@ -173927,7 +179347,10 @@ OMIM:603465 a owl:Class ; "cell division cycle 45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8318 ; - skos:exactMatch HGNC_symbol:CDC45 ; + skos:exactMatch UMLS:C1332724, + UMLS:C4310738, + HGNC:1739, + HGNC_symbol:CDC45 ; biolink:category biolink:Gene . OMIM:603466 a owl:Class ; @@ -173941,13 +179364,14 @@ OMIM:603466 a owl:Class ; PMID:29760195, PMID:8626503, PMID:9003489 ; - oboInOwl:hasDbXref UMLS:C1414371 ; oboInOwl:hasExactSynonym "ELAVL1", "elav-like rna-binding protein 1", "hu-antigen r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1994 ; - skos:exactMatch HGNC_symbol:ELAVL1 ; + skos:exactMatch UMLS:C1414371, + HGNC:3312, + HGNC_symbol:ELAVL1 ; biolink:category biolink:Gene . OMIM:603468 a owl:Class ; @@ -173993,14 +179417,15 @@ OMIM:603470 a owl:Class ; PMID:934749 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:215700 ; - oboInOwl:hasDbXref UMLS:C1825092 ; oboInOwl:hasExactSynonym "ASS1", "argininosuccinate synthetase 1", "argininosuccinate synthetase pseudogenes", "ass" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:445 ; - skos:exactMatch HGNC_symbol:ASS1 ; + skos:exactMatch UMLS:C1825092, + HGNC:758, + HGNC_symbol:ASS1 ; biolink:category biolink:Gene . OMIM:603471 a owl:Class ; @@ -174020,10 +179445,10 @@ OMIM:603471 a owl:Class ; PMID:503639, PMID:5057291, PMID:8105687 ; - oboInOwl:hasDbXref UMLS:C1863844 ; oboInOwl:hasExactSynonym "CTLN2", "citrin deficiency", "citrullinemia, iia ii, adult-onset" ; + skos:exactMatch UMLS:C1863844 ; biolink:category biolink:Disease . OMIM:603472 a owl:Class ; @@ -174049,10 +179474,10 @@ OMIM:603472 a owl:Class ; PMID:32789443, PMID:6331275, PMID:9804114 ; - oboInOwl:hasDbXref UMLS:C1863843, - ORPHA:2289 ; oboInOwl:hasExactSynonym "NIID", "neuronal intranuclear inclusion disease" ; + skos:exactMatch UMLS:C1863843, + ORPHA:2289 ; biolink:category biolink:Disease . OMIM:603473 a owl:Class ; @@ -174062,13 +179487,14 @@ OMIM:603473 a owl:Class ; PMID:9988258, PMID:9988268, PMID:9988269 ; - oboInOwl:hasDbXref UMLS:C1367460 ; oboInOwl:hasExactSynonym "LATS1", "large tumor suppressor kinase 1", "large tumor suppressor, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9113 ; - skos:exactMatch HGNC_symbol:LATS1 ; + skos:exactMatch UMLS:C1367460, + HGNC:6514, + HGNC_symbol:LATS1 ; biolink:category biolink:Gene . OMIM:603474 a owl:Class ; @@ -174090,12 +179516,13 @@ OMIM:603474 a owl:Class ; PMID:9988267 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:105650 ; - oboInOwl:hasDbXref UMLS:C1335641 ; oboInOwl:hasExactSynonym "RPS19", "ribosomal protein s19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6223 ; - skos:exactMatch HGNC_symbol:RPS19 ; + skos:exactMatch UMLS:C1335641, + HGNC:10402, + HGNC_symbol:RPS19 ; biolink:category biolink:Gene . OMIM:603475 a owl:Class ; @@ -174109,60 +179536,65 @@ OMIM:603475 a owl:Class ; PMID:19247433, PMID:6655676, PMID:9782094 ; - oboInOwl:hasDbXref UMLS:C1413399 ; oboInOwl:hasExactSynonym "CHRD", "chordin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8646 ; - skos:exactMatch HGNC_symbol:CHRD ; + skos:exactMatch UMLS:C1413399, + HGNC:1949, + HGNC_symbol:CHRD ; biolink:category biolink:Gene . OMIM:603476 a owl:Class ; rdfs:label "CREBL2" ; IAO:0000142 PMID:9693048 ; - oboInOwl:hasDbXref UMLS:C1332780 ; oboInOwl:hasExactSynonym "CREBL2", "camp response element-binding protein-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1389 ; - skos:exactMatch HGNC_symbol:CREBL2 ; + skos:exactMatch UMLS:C1332780, + HGNC:2350, + HGNC_symbol:CREBL2 ; biolink:category biolink:Gene . OMIM:603477 a owl:Class ; rdfs:label "BUD31" ; IAO:0000142 PMID:26331541, PMID:7841202 ; - oboInOwl:hasDbXref UMLS:C1823197 ; oboInOwl:hasExactSynonym "BUD31", "bud31 homolog", "bud31, s. cerevisiae, homolog of", "g10 maternal transcript, xenopus, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8896 ; - skos:exactMatch HGNC_symbol:BUD31 ; + skos:exactMatch UMLS:C1823197, + HGNC:29629, + HGNC_symbol:BUD31 ; biolink:category biolink:Gene . OMIM:603478 a owl:Class ; rdfs:label "USP1" ; IAO:0000142 PMID:18082604, PMID:9806842 ; - oboInOwl:hasDbXref UMLS:C1421386 ; oboInOwl:hasExactSynonym "USP1", "ubiquitin-specific protease 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7398 ; - skos:exactMatch HGNC_symbol:USP1 ; + skos:exactMatch UMLS:C1421386, + HGNC:12607, + HGNC_symbol:USP1 ; biolink:category biolink:Gene . OMIM:603479 a owl:Class ; rdfs:label "ECM2" ; IAO:0000142 PMID:9790758 ; - oboInOwl:hasDbXref UMLS:C1414249 ; oboInOwl:hasExactSynonym "ECM2", "extracellular matrix protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1842 ; - skos:exactMatch HGNC_symbol:ECM2 ; + skos:exactMatch UMLS:C1414249, + HGNC:3154, + HGNC_symbol:ECM2 ; biolink:category biolink:Gene . OMIM:603480 a owl:Class ; @@ -174173,14 +179605,15 @@ OMIM:603481 a owl:Class ; rdfs:label "PSMD13" ; IAO:0000142 PMID:10225435, PMID:9714768 ; - oboInOwl:hasDbXref UMLS:C1419031 ; oboInOwl:hasExactSynonym "PSMD13", "p40.5", "protease 26s, subunit 11", "proteasome 26s subunit, non-atpase, 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5719 ; - skos:exactMatch HGNC_symbol:PSMD13 ; + skos:exactMatch UMLS:C1419031, + HGNC:9558, + HGNC_symbol:PSMD13 ; biolink:category biolink:Gene . OMIM:603482 a owl:Class ; @@ -174207,7 +179640,6 @@ OMIM:603482 a owl:Class ; PMID:9859996, PMID:9990852, PMID:9990853 ; - oboInOwl:hasDbXref UMLS:C1412851 ; oboInOwl:hasExactSynonym "BTRC", "beta-transducin repeat-containing protein", "beta-trcp", @@ -174217,7 +179649,9 @@ OMIM:603482 a owl:Class ; "slimb, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8945 ; - skos:exactMatch HGNC_symbol:BTRC ; + skos:exactMatch UMLS:C1412851, + HGNC:1144, + HGNC_symbol:BTRC ; biolink:category biolink:Gene . OMIM:603483 a owl:Class ; @@ -174226,13 +179660,14 @@ OMIM:603483 a owl:Class ; PMID:14557257, PMID:20508131, PMID:9593750 ; - oboInOwl:hasDbXref UMLS:C1414354 ; oboInOwl:hasExactSynonym "4ebp3", "EIF4EBP3", "eukaryotic translation initiation factor 4e-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8637 ; - skos:exactMatch HGNC_symbol:EIF4EBP3 ; + skos:exactMatch UMLS:C1414354, + HGNC:3290, + HGNC_symbol:EIF4EBP3 ; biolink:category biolink:Gene . OMIM:603484 a owl:Class ; @@ -174240,12 +179675,13 @@ OMIM:603484 a owl:Class ; IAO:0000142 PMID:15297875, PMID:15625105, PMID:9885575 ; - oboInOwl:hasDbXref UMLS:C1418870 ; oboInOwl:hasExactSynonym "PRC1", "protein regulating cytokinesis 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9055 ; - skos:exactMatch HGNC_symbol:PRC1 ; + skos:exactMatch UMLS:C1418870, + HGNC:9341, + HGNC_symbol:PRC1 ; biolink:category biolink:Gene . OMIM:603485 a owl:Class ; @@ -174255,7 +179691,6 @@ OMIM:603485 a owl:Class ; PMID:9885568 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:619386 ; - oboInOwl:hasDbXref UMLS:C1423825 ; oboInOwl:hasExactSynonym "NFS1", "cysteine desulfurase", "iscs", @@ -174264,7 +179699,9 @@ OMIM:603485 a owl:Class ; "nitrogen-fixing bacteria s, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9054 ; - skos:exactMatch HGNC_symbol:NFS1 ; + skos:exactMatch UMLS:C1423825, + HGNC:15910, + HGNC_symbol:NFS1 ; biolink:category biolink:Gene . OMIM:603486 a owl:Class ; @@ -174274,13 +179711,14 @@ OMIM:603486 a owl:Class ; PMID:8336951, PMID:9464533, PMID:9602026 ; - oboInOwl:hasDbXref UMLS:C1421405 ; oboInOwl:hasExactSynonym "USP4", "ubiquitin-specific protease", "ubiquitin-specific protease 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7375 ; - skos:exactMatch HGNC_symbol:USP4 ; + skos:exactMatch UMLS:C1421405, + HGNC:12627, + HGNC_symbol:USP4 ; biolink:category biolink:Gene . OMIM:603487 a owl:Class ; @@ -174290,7 +179728,6 @@ OMIM:603487 a owl:Class ; PMID:3894379, PMID:7499477, PMID:9806854 ; - oboInOwl:hasDbXref UMLS:C1417536 ; oboInOwl:hasExactSynonym "MYH13", "eo myosin", "myhc-eo", @@ -174298,18 +179735,21 @@ OMIM:603487 a owl:Class ; "myosin, skeletal muscle, heavy chain 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8735 ; - skos:exactMatch HGNC_symbol:MYH13 ; + skos:exactMatch UMLS:C1417536, + HGNC:7571, + HGNC_symbol:MYH13 ; biolink:category biolink:Gene . OMIM:603488 a owl:Class ; rdfs:label "AAMP" ; IAO:0000142 PMID:7743515 ; - oboInOwl:hasDbXref UMLS:C1412052 ; oboInOwl:hasExactSynonym "AAMP", "angio-associated migratory cell protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:14 ; - skos:exactMatch HGNC_symbol:AAMP ; + skos:exactMatch UMLS:C1412052, + HGNC:18, + HGNC_symbol:AAMP ; biolink:category biolink:Gene . OMIM:603489 a owl:Class ; @@ -174322,7 +179762,6 @@ OMIM:603489 a owl:Class ; PMID:9722584 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:603932 ; - oboInOwl:hasDbXref UMLS:C1413425 ; oboInOwl:hasExactSynonym "CILP", "cartilage intermediate layer protein", "cilp1", @@ -174330,7 +179769,9 @@ OMIM:603489 a owl:Class ; "nucleotide pyrophosphohydrolase, porcine, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8483 ; - skos:exactMatch HGNC_symbol:CILP ; + skos:exactMatch UMLS:C1413425, + HGNC:1980, + HGNC_symbol:CILP ; biolink:category biolink:Gene . OMIM:603490 a owl:Class ; @@ -174353,12 +179794,13 @@ OMIM:603490 a owl:Class ; PMID:9989404 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:158330 ; - oboInOwl:hasDbXref UMLS:C1337002 ; oboInOwl:hasExactSynonym "WNT4", "wingless-type mmtv integration site family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54361 ; - skos:exactMatch HGNC_symbol:WNT4 ; + skos:exactMatch UMLS:C1337002, + HGNC:12783, + HGNC_symbol:WNT4 ; biolink:category biolink:Gene . OMIM:603491 a owl:Class ; @@ -174367,12 +179809,13 @@ OMIM:603491 a owl:Class ; PMID:9790749 ; RO:0002525 CHR:9606chr1p13.1 ; RO:0003303 OMIM:149700 ; - oboInOwl:hasDbXref UMLS:C1416372 ; oboInOwl:hasExactSynonym "IGSF3", "immunoglobulin superfamily, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3321 ; - skos:exactMatch HGNC_symbol:IGSF3 ; + skos:exactMatch UMLS:C1416372, + HGNC:5950, + HGNC_symbol:IGSF3 ; biolink:category biolink:Gene . OMIM:603492 a owl:Class ; @@ -174384,7 +179827,6 @@ OMIM:603492 a owl:Class ; PMID:9091591, PMID:9300723, PMID:9570575 ; - oboInOwl:hasDbXref UMLS:C1420084 ; oboInOwl:hasExactSynonym "SLAMF1", "cd150", "cdw150", @@ -174392,7 +179834,9 @@ OMIM:603492 a owl:Class ; "slam family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6504 ; - skos:exactMatch HGNC_symbol:SLAMF1 ; + skos:exactMatch UMLS:C1420084, + HGNC:10903, + HGNC_symbol:SLAMF1 ; biolink:category biolink:Gene . OMIM:603493 a owl:Class ; @@ -174402,13 +179846,14 @@ OMIM:603493 a owl:Class ; PMID:26068853, PMID:32999458, PMID:9812978 ; - oboInOwl:hasDbXref UMLS:C1456384 ; oboInOwl:hasExactSynonym "KCNK5", "potassium channel, subfamily k, member 5", "task2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8645 ; - skos:exactMatch HGNC_symbol:KCNK5 ; + skos:exactMatch UMLS:C1456384, + HGNC:6280, + HGNC_symbol:KCNK5 ; biolink:category biolink:Gene . OMIM:603494 a owl:Class ; @@ -174417,7 +179862,6 @@ OMIM:603494 a owl:Class ; PMID:31147493, PMID:9819440, PMID:9878255 ; - oboInOwl:hasDbXref UMLS:C1421895 ; oboInOwl:hasExactSynonym "RNA polymerase ii, subunit 5-mediating protein", "URI1", "nnx3 protein", @@ -174426,7 +179870,9 @@ OMIM:603494 a owl:Class ; "unconventional prefoldin rpb5 interactor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8725 ; - skos:exactMatch HGNC_symbol:URI1 ; + skos:exactMatch UMLS:C1421895, + HGNC:13236, + HGNC_symbol:URI1 ; biolink:category biolink:Gene . OMIM:603495 a owl:Class ; @@ -174443,8 +179889,6 @@ OMIM:603495 a owl:Class ; PMID:9809744 ; RO:0002525 CHR:9606chr19q13.43 ; RO:0003303 OMIM:243060 ; - oboInOwl:hasDbXref UMLS:C0403812, - UMLS:C1420465 ; oboInOwl:hasExactSynonym "AURKC", "aurora kinase c", "aurora/ipl1-like kinase 3", @@ -174452,7 +179896,10 @@ OMIM:603495 a owl:Class ; "serine/threonine protein kinase 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6795 ; - skos:exactMatch HGNC_symbol:AURKC ; + skos:exactMatch UMLS:C0403812, + UMLS:C1420465, + HGNC:11391, + HGNC_symbol:AURKC ; biolink:category biolink:Gene . OMIM:603496 a owl:Class ; @@ -174461,12 +179908,13 @@ OMIM:603496 a owl:Class ; PMID:16511445, PMID:17349958, PMID:9748265 ; - oboInOwl:hasDbXref UMLS:C1414206 ; oboInOwl:hasExactSynonym "DYRK2", "dual-specificity tyrosine phosphorylation-regulated kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8445 ; - skos:exactMatch HGNC_symbol:DYRK2 ; + skos:exactMatch UMLS:C1414206, + HGNC:3093, + HGNC_symbol:DYRK2 ; biolink:category biolink:Gene . OMIM:603497 a owl:Class ; @@ -174475,25 +179923,27 @@ OMIM:603497 a owl:Class ; PMID:16001074, PMID:8640222, PMID:9748265 ; - oboInOwl:hasDbXref UMLS:C1414207 ; oboInOwl:hasExactSynonym "DYRK3", "dual-specificity tyrosine phosphorylation-regulated kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8444 ; - skos:exactMatch HGNC_symbol:DYRK3 ; + skos:exactMatch UMLS:C1414207, + HGNC:3094, + HGNC_symbol:DYRK3 ; biolink:category biolink:Gene . OMIM:603498 a owl:Class ; rdfs:label "SMPD2" ; IAO:0000142 PMID:15764706, PMID:9520418 ; - oboInOwl:hasDbXref UMLS:C1420260 ; oboInOwl:hasExactSynonym "SMPD2", "sphingomyelin phosphodiesterase 2, neutral membrane", "sphingomyelinase, neutral, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6610 ; - skos:exactMatch HGNC_symbol:SMPD2 ; + skos:exactMatch UMLS:C1420260, + HGNC:11121, + HGNC_symbol:SMPD2 ; biolink:category biolink:Gene . OMIM:603500 a owl:Class ; @@ -174507,13 +179957,14 @@ OMIM:603500 a owl:Class ; PMID:32968279, PMID:7758105, PMID:8844497 ; - oboInOwl:hasDbXref UMLS:C1336664 ; oboInOwl:hasExactSynonym "TRADD", "tnfr1-associated death domain protein", "tumor necrosis factor receptor 1-associated death domain protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8717 ; - skos:exactMatch HGNC_symbol:TRADD ; + skos:exactMatch UMLS:C1336664, + HGNC:12030, + HGNC_symbol:TRADD ; biolink:category biolink:Gene . OMIM:603501 a owl:Class ; @@ -174524,12 +179975,13 @@ OMIM:603501 a owl:Class ; PMID:17116882, PMID:21892188, PMID:9115250 ; - oboInOwl:hasDbXref UMLS:C1418269 ; oboInOwl:hasExactSynonym "PARG", "poly(adp-ribose) glycohydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8505 ; - skos:exactMatch HGNC_symbol:PARG ; + skos:exactMatch UMLS:C1418269, + HGNC:8605, + HGNC_symbol:PARG ; biolink:category biolink:Gene . OMIM:603502 a owl:Class ; @@ -174540,7 +179992,6 @@ OMIM:603502 a owl:Class ; PMID:19409521, PMID:2467301, PMID:9722946 ; - oboInOwl:hasDbXref UMLS:C1415927 ; oboInOwl:hasExactSynonym "IFRD1", "interferon-related developmental regulator 1", "pc4", @@ -174548,7 +179999,9 @@ OMIM:603502 a owl:Class ; "tpa-induced sequence 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3475 ; - skos:exactMatch HGNC_symbol:IFRD1 ; + skos:exactMatch UMLS:C1415927, + HGNC:5456, + HGNC_symbol:IFRD1 ; biolink:category biolink:Gene . OMIM:603503 a owl:Class ; @@ -174564,7 +180017,6 @@ OMIM:603503 a owl:Class ; PMID:9535917 ; RO:0002525 CHR:9606chr20q13.13 ; RO:0003303 OMIM:608799 ; - oboInOwl:hasDbXref UMLS:C1414137 ; oboInOwl:hasExactSynonym "DPM1", "dolichol-phosphate mannosyltransferase 1", "dolichol-phosphate-mannose synthase 1", @@ -174572,7 +180024,9 @@ OMIM:603503 a owl:Class ; "mpd synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8813 ; - skos:exactMatch HGNC_symbol:DPM1 ; + skos:exactMatch UMLS:C1414137, + HGNC:3005, + HGNC_symbol:DPM1 ; biolink:category biolink:Gene . OMIM:603504 a owl:Class ; @@ -174588,13 +180042,14 @@ OMIM:603504 a owl:Class ; PMID:9367992 ; RO:0002525 CHR:9606chr1p21.2 ; RO:0003303 OMIM:608653 ; - oboInOwl:hasDbXref UMLS:C1413253 ; oboInOwl:hasExactSynonym "CDC14A", "cell division cycle 14, s. cerevisiae, homolog a", "cell division cycle 14a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8556 ; - skos:exactMatch HGNC_symbol:CDC14A ; + skos:exactMatch UMLS:C1413253, + HGNC:1718, + HGNC_symbol:CDC14A ; biolink:category biolink:Gene . OMIM:603505 a owl:Class ; @@ -174602,13 +180057,14 @@ OMIM:603505 a owl:Class ; IAO:0000142 PMID:12384779, PMID:21262768, PMID:9367992 ; - oboInOwl:hasDbXref UMLS:C1413254 ; oboInOwl:hasExactSynonym "CDC14B", "cell division cycle 14, s. cerevisiae, homolog B", "cell division cycle 14b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8555 ; - skos:exactMatch HGNC_symbol:CDC14B ; + skos:exactMatch UMLS:C1413254, + HGNC:1719, + HGNC_symbol:CDC14B ; biolink:category biolink:Gene . OMIM:603506 a owl:Class ; @@ -174648,14 +180104,15 @@ OMIM:603506 a owl:Class ; PMID:9831343 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:166710 ; - oboInOwl:hasDbXref UMLS:C1416917 ; oboInOwl:hasExactSynonym "LRP5", "low density lipoprotein receptor-related protein 5", "low density lipoprotein receptor-related protein 7", "lr3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4041 ; - skos:exactMatch HGNC_symbol:LRP5 ; + skos:exactMatch UMLS:C1416917, + HGNC:6697, + HGNC_symbol:LRP5 ; biolink:category biolink:Gene . OMIM:603507 a owl:Class ; @@ -174687,14 +180144,15 @@ OMIM:603507 a owl:Class ; PMID:9704021 ; RO:0002525 CHR:9606chr12p13.2 ; RO:0003303 OMIM:610947 ; - oboInOwl:hasDbXref UMLS:C1416918, - UMLS:C1970440, - UMLS:C4225231 ; oboInOwl:hasExactSynonym "LRP6", "low density lipoprotein receptor-related protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4040 ; - skos:exactMatch HGNC_symbol:LRP6 ; + skos:exactMatch UMLS:C1416918, + UMLS:C1970440, + UMLS:C4225231, + HGNC:6698, + HGNC_symbol:LRP6 ; biolink:category biolink:Gene . OMIM:603508 a owl:Class ; @@ -174703,7 +180161,6 @@ OMIM:603508 a owl:Class ; PMID:10744711, PMID:7505783, PMID:9806852 ; - oboInOwl:hasDbXref UMLS:C1417576 ; oboInOwl:hasExactSynonym "MYOM1", "myomesin 1", "skelemin", @@ -174711,21 +180168,24 @@ OMIM:603508 a owl:Class ; "titin-associated protein, 190-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8736 ; - skos:exactMatch HGNC_symbol:MYOM1 ; + skos:exactMatch UMLS:C1417576, + HGNC:7613, + HGNC_symbol:MYOM1 ; biolink:category biolink:Gene . OMIM:603509 a owl:Class ; rdfs:label "MYOM2" ; IAO:0000142 PMID:7505783, PMID:9933576 ; - oboInOwl:hasDbXref UMLS:C1417577 ; oboInOwl:hasExactSynonym "MYOM2", "m band protein", "myomesin 2", "titin-associated protein, 165-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9172 ; - skos:exactMatch HGNC_symbol:MYOM2 ; + skos:exactMatch UMLS:C1417577, + HGNC:7614, + HGNC_symbol:MYOM2 ; biolink:category biolink:Gene . OMIM:603510 a owl:Class ; @@ -174738,7 +180198,6 @@ OMIM:603512 a owl:Class ; PMID:9473487, PMID:9512541, PMID:9828141 ; - oboInOwl:hasDbXref UMLS:C1419431 ; oboInOwl:hasExactSynonym "RNA guanylyltransferase and 5-prime-phosphatase", "RNGTT", "cap1a", @@ -174746,7 +180205,9 @@ OMIM:603512 a owl:Class ; "human capping enzyme 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8732 ; - skos:exactMatch HGNC_symbol:RNGTT ; + skos:exactMatch UMLS:C1419431, + HGNC:10073, + HGNC_symbol:RNGTT ; biolink:category biolink:Gene . OMIM:603513 a owl:Class ; @@ -174762,8 +180223,8 @@ OMIM:603513 a owl:Class ; PMID:9973289 ; oboInOwl:consider OMIM:612900, OMIM:619026 ; - oboInOwl:hasDbXref UMLS:C2751938 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C2751938 . OMIM:603514 a owl:Class ; rdfs:label "RNMT" ; @@ -174772,13 +180233,14 @@ OMIM:603514 a owl:Class ; PMID:9705270, PMID:9790902, PMID:9828141 ; - oboInOwl:hasDbXref UMLS:C1419433 ; oboInOwl:hasExactSynonym "RNA guanine-7-methyltransferase", "RNMT", "met" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8731 ; - skos:exactMatch HGNC_symbol:RNMT ; + skos:exactMatch UMLS:C1419433, + HGNC:10075, + HGNC_symbol:RNMT ; biolink:category biolink:Gene . OMIM:603515 a owl:Class ; @@ -174789,13 +180251,14 @@ OMIM:603515 a owl:Class ; PMID:7072716, PMID:7169010, PMID:8083227 ; - oboInOwl:hasDbXref UMLS:C1413754 ; oboInOwl:hasExactSynonym "CSHL1", "chorionic somatomammotropin hormone-like 1", "chorionic somatomammotropin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1444 ; - skos:exactMatch HGNC_symbol:CSHL1 ; + skos:exactMatch UMLS:C1413754, + HGNC:2442, + HGNC_symbol:CSHL1 ; biolink:category biolink:Gene . OMIM:603517 a owl:Class ; @@ -174816,7 +180279,12 @@ OMIM:603517 a owl:Class ; PMID:7629280, PMID:9989495 ; RO:0002525 CHR:9606chr1p22.3 ; - oboInOwl:hasDbXref UMLS:C1367449, + oboInOwl:hasExactSynonym "BCL10", + "b-cell cll/lymphoma 10", + "b-cell leukemia/lymphoma 10" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:8915 ; + skos:exactMatch UMLS:C1367449, UMLS:C3276200, UMLS:C3276201, UMLS:C4015195, @@ -174825,13 +180293,9 @@ OMIM:603517 a owl:Class ; UMLS:C4016843, UMLS:C4016844, UMLS:C4016845, - UMLS:C4016846 ; - oboInOwl:hasExactSynonym "BCL10", - "b-cell cll/lymphoma 10", - "b-cell leukemia/lymphoma 10" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:8915 ; - skos:exactMatch HGNC_symbol:BCL10 ; + UMLS:C4016846, + HGNC:989, + HGNC_symbol:BCL10 ; biolink:category biolink:Gene . OMIM:603518 a owl:Class ; @@ -174845,37 +180309,40 @@ OMIM:603518 a owl:Class ; PMID:8176212 ; RO:0002525 CHR:9606chr2p13.3 ; RO:0003303 OMIM:604454 ; - oboInOwl:hasDbXref UMLS:C1420729 ; oboInOwl:hasExactSynonym "TIA1", "tia1 cytotoxic granule-associated rna-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7072 ; - skos:exactMatch HGNC_symbol:TIA1 ; + skos:exactMatch UMLS:C1420729, + HGNC:11802, + HGNC_symbol:TIA1 ; biolink:category biolink:Gene . OMIM:603519 a owl:Class ; rdfs:label "SMNDC1" ; IAO:0000142 PMID:9731529, PMID:9817934 ; - oboInOwl:hasDbXref UMLS:C1424623 ; oboInOwl:hasExactSynonym "SMNDC1", "smn-related protein", "survival motor neuron domain-containing protein 1", "survival of motor neuron-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10285 ; - skos:exactMatch HGNC_symbol:SMNDC1 ; + skos:exactMatch UMLS:C1424623, + HGNC:16900, + HGNC_symbol:SMNDC1 ; biolink:category biolink:Gene . OMIM:603520 a owl:Class ; rdfs:label "SNRPB2" ; IAO:0000142 PMID:2951739 ; - oboInOwl:hasDbXref UMLS:C1420286 ; oboInOwl:hasExactSynonym "SNRPB2", "small nuclear ribonucleoprotein polypeptide b-double prime" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6629 ; - skos:exactMatch HGNC_symbol:SNRPB2 ; + skos:exactMatch UMLS:C1420286, + HGNC:11155, + HGNC_symbol:SNRPB2 ; biolink:category biolink:Gene . OMIM:603521 a owl:Class ; @@ -174884,12 +180351,13 @@ OMIM:603521 a owl:Class ; PMID:15616564, PMID:27035939, PMID:2928112 ; - oboInOwl:hasDbXref UMLS:C1420284 ; oboInOwl:hasExactSynonym "SNRPA1", "small nuclear ribonucleoprotein polypeptide a-prime" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6627 ; - skos:exactMatch HGNC_symbol:SNRPA1 ; + skos:exactMatch UMLS:C1420284, + HGNC:11152, + HGNC_symbol:SNRPA1 ; biolink:category biolink:Gene . OMIM:603522 a owl:Class ; @@ -174898,12 +180366,13 @@ OMIM:603522 a owl:Class ; PMID:2961811, PMID:2971157, PMID:9031639 ; - oboInOwl:hasDbXref UMLS:C1420288 ; oboInOwl:hasExactSynonym "SNRPC", "small nuclear ribonucleoprotein polypeptide c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6631 ; - skos:exactMatch HGNC_symbol:SNRPC ; + skos:exactMatch UMLS:C1420288, + HGNC:11157, + HGNC_symbol:SNRPC ; biolink:category biolink:Gene . OMIM:603523 a owl:Class ; @@ -174913,33 +180382,35 @@ OMIM:603523 a owl:Class ; PMID:416049, PMID:8368253, PMID:9764901 ; - oboInOwl:hasDbXref UMLS:C0340014 ; oboInOwl:hasExactSynonym "chylothorax, congenital", - "hydrothorax, congenital" . + "hydrothorax, congenital" ; + skos:exactMatch UMLS:C0340014 . OMIM:603524 a owl:Class ; rdfs:label "RCBTB2" ; IAO:0000142 PMID:9806834 ; - oboInOwl:hasDbXref UMLS:C1826785 ; oboInOwl:hasExactSynonym "RCBTB2", "chromosome condensation 1-like", "rcc1 domain- and btb domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1102 ; - skos:exactMatch HGNC_symbol:RCBTB2 ; + skos:exactMatch UMLS:C1826785, + HGNC:1914, + HGNC_symbol:RCBTB2 ; biolink:category biolink:Gene . OMIM:603525 a owl:Class ; rdfs:label "NMI" ; IAO:0000142 PMID:8668343, PMID:9989503 ; - oboInOwl:hasDbXref UMLS:C1334885 ; oboInOwl:hasExactSynonym "NMI", "nmyc and stat interactor", "nmyc interactor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9111 ; - skos:exactMatch HGNC_symbol:NMI ; + skos:exactMatch UMLS:C1334885, + HGNC:7854, + HGNC_symbol:NMI ; biolink:category biolink:Gene . OMIM:603526 a owl:Class ; @@ -174958,12 +180429,13 @@ OMIM:603526 a owl:Class ; PMID:19584269, PMID:8083195, PMID:9885572 ; - oboInOwl:hasDbXref UMLS:C1417405 ; oboInOwl:hasExactSynonym "MTA1", "metastasis-associated gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9112 ; - skos:exactMatch HGNC_symbol:MTA1 ; + skos:exactMatch UMLS:C1417405, + HGNC:7410, + HGNC_symbol:MTA1 ; biolink:category biolink:Gene . OMIM:603527 a owl:Class ; @@ -174978,7 +180450,6 @@ OMIM:603527 a owl:Class ; PMID:8616839 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:616901 ; - oboInOwl:hasDbXref UMLS:C1824959 ; oboInOwl:hasExactSynonym "DPH1", "diphthamide biosynthesis protein 1", "dph1, s. cerevisiae, homolog of", @@ -174986,7 +180457,9 @@ OMIM:603527 a owl:Class ; "ovarian cancer-associated gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1801 ; - skos:exactMatch HGNC_symbol:DPH1 ; + skos:exactMatch UMLS:C1824959, + HGNC:3003, + HGNC_symbol:DPH1 ; biolink:category biolink:Gene . OMIM:603528 a owl:Class ; @@ -174997,16 +180470,16 @@ OMIM:603529 a owl:Class ; rdfs:label "dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin" ; IAO:0000142 PMID:9326170, PMID:9858240 ; - oboInOwl:hasDbXref UMLS:C3807235 ; - oboInOwl:hasExactSynonym "dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin" . + oboInOwl:hasExactSynonym "dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin" ; + skos:exactMatch UMLS:C3807235 . OMIM:603530 a owl:Class ; rdfs:label "light fixation seizure syndrome" ; IAO:0000142 PMID:9934988 ; - oboInOwl:hasDbXref UMLS:C1863767 ; oboInOwl:hasExactSynonym "lfss", "light fixation seizure syndrome", - "m syndrome" . + "m syndrome" ; + skos:exactMatch UMLS:C1863767 . OMIM:603531 a owl:Class ; rdfs:label "AP1S1" ; @@ -175021,8 +180494,6 @@ OMIM:603531 a owl:Class ; PMID:9733768 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:609313 ; - oboInOwl:hasDbXref UMLS:C1412439, - UMLS:C1836330 ; oboInOwl:hasExactSynonym "AP1S1", "adaptor-related protein complex 1, sigma-1 subunit", "clathrin adaptor complex ap1, sigma-1a subunit", @@ -175030,7 +180501,10 @@ OMIM:603531 a owl:Class ; "clathrin-associated/assembly/adaptor protein, small 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1174 ; - skos:exactMatch HGNC_symbol:AP1S1 ; + skos:exactMatch UMLS:C1412439, + UMLS:C1836330, + HGNC:559, + HGNC_symbol:AP1S1 ; biolink:category biolink:Gene . OMIM:603532 a owl:Class ; @@ -175043,28 +180517,30 @@ OMIM:603533 a owl:Class ; PMID:9653655 ; RO:0002525 CHR:9606chr16q22.2 ; RO:0003303 OMIM:619548 ; - oboInOwl:hasDbXref UMLS:C1412435 ; oboInOwl:hasExactSynonym "AP1G1", "adaptin, gamma", "adaptor-related protein complex 1, gamma-1 subunit", "clathrin-associated/assembly/adaptor protein, large, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:164 ; - skos:exactMatch HGNC_symbol:AP1G1 ; + skos:exactMatch UMLS:C1412435, + HGNC:555, + HGNC_symbol:AP1G1 ; biolink:category biolink:Gene . OMIM:603534 a owl:Class ; rdfs:label "AP1G2" ; IAO:0000142 PMID:9733768, PMID:9762922 ; - oboInOwl:hasDbXref UMLS:C1412436 ; oboInOwl:hasExactSynonym "AP1G2", "adaptin, gamma-2", "adaptor-related protein complex 1, gamma-2 subunit", "clathrin-associated/assembly/adaptor protein, large, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8906 ; - skos:exactMatch HGNC_symbol:AP1G2 ; + skos:exactMatch UMLS:C1412436, + HGNC:556, + HGNC_symbol:AP1G2 ; biolink:category biolink:Gene . OMIM:603535 a owl:Class ; @@ -175072,7 +180548,6 @@ OMIM:603535 a owl:Class ; IAO:0000142 PMID:12215646, PMID:1761056, PMID:9653655 ; - oboInOwl:hasDbXref UMLS:C1422136 ; oboInOwl:hasExactSynonym "AP1M1", "adaptor-related protein complex 1, mu-1 subunit", "clathrin adaptor protein ap47", @@ -175080,19 +180555,22 @@ OMIM:603535 a owl:Class ; "mu-1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8907 ; - skos:exactMatch HGNC_symbol:AP1M1 ; + skos:exactMatch UMLS:C1422136, + HGNC:13667, + HGNC_symbol:AP1M1 ; biolink:category biolink:Gene . OMIM:603536 a owl:Class ; rdfs:label "FUBP3" ; IAO:0000142 PMID:8940189 ; - oboInOwl:hasDbXref UMLS:C1414856 ; oboInOwl:hasExactSynonym "FUBP3", "far upstream element-binding protein 3", "fuse-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8939 ; - skos:exactMatch HGNC_symbol:FUBP3 ; + skos:exactMatch UMLS:C1414856, + HGNC:4005, + HGNC_symbol:FUBP3 ; biolink:category biolink:Gene . OMIM:603537 a owl:Class ; @@ -175115,13 +180593,14 @@ OMIM:603537 a owl:Class ; PMID:9126484 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:600101 ; - oboInOwl:hasDbXref UMLS:C1416616 ; oboInOwl:hasExactSynonym "KCNQ4", "potassium channel, voltage-gated, kqt-like subfamily, member 4", "potassium channel, voltage-gated, subfamily q, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9132 ; - skos:exactMatch HGNC_symbol:KCNQ4 ; + skos:exactMatch UMLS:C1416616, + HGNC:6298, + HGNC_symbol:KCNQ4 ; biolink:category biolink:Gene . OMIM:603538 a owl:Class ; @@ -175130,13 +180609,14 @@ OMIM:603538 a owl:Class ; PMID:15806102, PMID:21640374, PMID:9237672 ; - oboInOwl:hasDbXref UMLS:C1416688 ; oboInOwl:hasExactSynonym "KMO", "kynurenine 3-hydroxylase", "kynurenine 3-monooxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8564 ; - skos:exactMatch HGNC_symbol:KMO ; + skos:exactMatch UMLS:C1416688, + HGNC:6381, + HGNC_symbol:KMO ; biolink:category biolink:Gene . OMIM:603539 a owl:Class ; @@ -175149,12 +180629,13 @@ OMIM:603539 a owl:Class ; PMID:9822672 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:615362 ; - oboInOwl:hasDbXref UMLS:C1413813 ; oboInOwl:hasExactSynonym "CTSF", "cathepsin f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8722 ; - skos:exactMatch HGNC_symbol:CTSF ; + skos:exactMatch UMLS:C1413813, + HGNC:2531, + HGNC_symbol:CTSF ; biolink:category biolink:Gene . OMIM:603540 a owl:Class ; @@ -175183,35 +180664,38 @@ OMIM:603540 a owl:Class ; PMID:9872317, PMID:9872744, PMID:9933300 ; - oboInOwl:hasDbXref UMLS:C1414904 ; oboInOwl:hasExactSynonym "GABBR1", "gaba-b receptor, r1 subunit", "gamma-aminobutyric acid B receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2550 ; - skos:exactMatch HGNC_symbol:GABBR1 ; + skos:exactMatch UMLS:C1414904, + HGNC:4070, + HGNC_symbol:GABBR1 ; biolink:category biolink:Gene . OMIM:603541 a owl:Class ; rdfs:label "SNRPF" ; IAO:0000142 PMID:7744013 ; - oboInOwl:hasDbXref UMLS:C1420293 ; oboInOwl:hasExactSynonym "SNRPF", "small nuclear ribonucleoprotein polypeptide f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6636 ; - skos:exactMatch HGNC_symbol:SNRPF ; + skos:exactMatch UMLS:C1420293, + HGNC:11162, + HGNC_symbol:SNRPF ; biolink:category biolink:Gene . OMIM:603542 a owl:Class ; rdfs:label "SNRPG" ; IAO:0000142 PMID:7744013 ; - oboInOwl:hasDbXref UMLS:C1420294 ; oboInOwl:hasExactSynonym "SNRPG", "small nuclear ribonucleoprotein polypeptide g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6637 ; - skos:exactMatch HGNC_symbol:SNRPG ; + skos:exactMatch UMLS:C1420294, + HGNC:11163, + HGNC_symbol:SNRPG ; biolink:category biolink:Gene . OMIM:603543 a owl:Class ; @@ -175222,10 +180706,10 @@ OMIM:603543 a owl:Class ; PMID:18627043, PMID:8456838, PMID:9973291 ; - oboInOwl:hasDbXref UMLS:C1863753, - ORPHA:69085 ; oboInOwl:hasExactSynonym "LMS", "limb-mammary syndrome" ; + skos:exactMatch UMLS:C1863753, + ORPHA:69085 ; biolink:category biolink:Disease . OMIM:603544 a owl:Class ; @@ -175236,13 +180720,14 @@ OMIM:603544 a owl:Class ; PMID:9632813 ; RO:0002525 CHR:9606chr14q32.2 ; RO:0003303 OMIM:618147 ; - oboInOwl:hasDbXref UMLS:C1413183 ; oboInOwl:hasExactSynonym "CCNK", "cyck", "cyclin k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8812 ; - skos:exactMatch HGNC_symbol:CCNK ; + skos:exactMatch UMLS:C1413183, + HGNC:1596, + HGNC_symbol:CCNK ; biolink:category biolink:Gene . OMIM:603545 a owl:Class ; @@ -175262,13 +180747,14 @@ OMIM:603547 a owl:Class ; PMID:16998846, PMID:9610721, PMID:9774669 ; - oboInOwl:hasDbXref UMLS:C1417050 ; oboInOwl:hasExactSynonym "MBD2", "demethylase", "methyl-cpg-binding domain protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8932 ; - skos:exactMatch HGNC_symbol:MBD2 ; + skos:exactMatch UMLS:C1417050, + HGNC:6917, + HGNC_symbol:MBD2 ; biolink:category biolink:Gene . OMIM:603548 a owl:Class ; @@ -175276,26 +180762,28 @@ OMIM:603548 a owl:Class ; IAO:0000142 PMID:8863531, PMID:9115637, PMID:9806839 ; - oboInOwl:hasDbXref UMLS:C1413297 ; oboInOwl:hasExactSynonym "CDS1", "cdp-diacylglycerol synthase 1", "phosphatidate cytidylyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1040 ; - skos:exactMatch HGNC_symbol:CDS1 ; + skos:exactMatch UMLS:C1413297, + HGNC:1800, + HGNC_symbol:CDS1 ; biolink:category biolink:Gene . OMIM:603549 a owl:Class ; rdfs:label "CDS2" ; IAO:0000142 PMID:9806839, PMID:9889000 ; - oboInOwl:hasDbXref UMLS:C1413298 ; oboInOwl:hasExactSynonym "CDS2", "cdp-diacylglycerol synthase 2", "phosphatidate cytidylyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8760 ; - skos:exactMatch HGNC_symbol:CDS2 ; + skos:exactMatch UMLS:C1413298, + HGNC:1801, + HGNC_symbol:CDS2 ; biolink:category biolink:Gene . OMIM:603550 a owl:Class ; @@ -175310,14 +180798,15 @@ OMIM:603550 a owl:Class ; PMID:9887327 ; RO:0002525 CHR:9606chr6q23.2 ; RO:0003303 OMIM:601316 ; - oboInOwl:hasDbXref UMLS:C1414493 ; oboInOwl:hasExactSynonym "EYA4", "eya transcriptional coactivator and phosphatase 4", "eyes absent 4", "eyes absent, drosophila, homolog of, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2070 ; - skos:exactMatch HGNC_symbol:EYA4 ; + skos:exactMatch UMLS:C1414493, + HGNC:3522, + HGNC_symbol:EYA4 ; biolink:category biolink:Gene . OMIM:603551 a owl:Class ; @@ -175331,14 +180820,15 @@ OMIM:603551 a owl:Class ; PMID:8603390, PMID:9712871, PMID:9790770 ; - oboInOwl:hasDbXref UMLS:C1415826 ; oboInOwl:hasExactSynonym "HYAL2", "hyaluronidase 2", "hyaluronoglucosaminidase 2", "luca2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8692 ; - skos:exactMatch HGNC_symbol:HYAL2 ; + skos:exactMatch UMLS:C1415826, + HGNC:5321, + HGNC_symbol:HYAL2 ; biolink:category biolink:Gene . OMIM:603553 a owl:Class ; @@ -175353,13 +180843,13 @@ OMIM:603553 a owl:Class ; PMID:21234777, PMID:32374962, PMID:9915956 ; - oboInOwl:hasDbXref UMLS:C1863727, - ORPHA:540 ; oboInOwl:hasExactSynonym "FHL2", "hemophagocytic lymphohistiocytosis, familial, 2", "hlh2", "hplh2" ; rdfs:subClassOf OMIMPS:267700 ; + skos:exactMatch UMLS:C1863727, + ORPHA:540 ; biolink:category biolink:Disease . OMIM:603554 a owl:Class ; @@ -175384,12 +180874,12 @@ OMIM:603554 a owl:Class ; PMID:8450050, PMID:8776375, PMID:9630231 ; - oboInOwl:hasDbXref UMLS:C2700553, - UMLS:C2931884, - ORPHA:39041 ; oboInOwl:hasExactSynonym "omenn syndrome", "reticuloendotheliosis, familial, with eosinophilia", "severe combined immunodeficiency with hypereosinophilia" ; + skos:exactMatch UMLS:C2700553, + UMLS:C2931884, + ORPHA:39041 ; biolink:category biolink:Disease . OMIM:603555 a owl:Class ; @@ -175399,14 +180889,15 @@ OMIM:603555 a owl:Class ; PMID:8649394, PMID:8786137, PMID:9480761 ; - oboInOwl:hasDbXref UMLS:C1420523 ; oboInOwl:hasExactSynonym "SUPT4H1", "spt4 homolog, dsif elongation factor subunit", "suppressor of ty 4, s. cerevisiae, homolog of, 1", "supt4h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6827 ; - skos:exactMatch HGNC_symbol:SUPT4H1 ; + skos:exactMatch UMLS:C1420523, + HGNC:11467, + HGNC_symbol:SUPT4H1 ; biolink:category biolink:Gene . OMIM:603556 a owl:Class ; @@ -175431,13 +180922,14 @@ OMIM:603557 a owl:Class ; PMID:9736772 ; RO:0002525 CHR:9606chr11q21 ; RO:0003303 OMIM:601382 ; - oboInOwl:hasDbXref UMLS:C1417436 ; oboInOwl:hasExactSynonym "MTMR2", "kiaa1073", "myotubularin-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8898 ; - skos:exactMatch HGNC_symbol:MTMR2 ; + skos:exactMatch UMLS:C1417436, + HGNC:7450, + HGNC_symbol:MTMR2 ; biolink:category biolink:Gene . OMIM:603558 a owl:Class ; @@ -175446,13 +180938,14 @@ OMIM:603558 a owl:Class ; PMID:8640223, PMID:9205841, PMID:9736772 ; - oboInOwl:hasDbXref UMLS:C1417437 ; oboInOwl:hasExactSynonym "MTMR3", "kiaa0371", "myotubularin-related protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8897 ; - skos:exactMatch HGNC_symbol:MTMR3 ; + skos:exactMatch UMLS:C1417437, + HGNC:7451, + HGNC_symbol:MTMR3 ; biolink:category biolink:Gene . OMIM:603559 a owl:Class ; @@ -175461,13 +180954,14 @@ OMIM:603559 a owl:Class ; PMID:20061380, PMID:9734811, PMID:9736772 ; - oboInOwl:hasDbXref UMLS:C1417438 ; oboInOwl:hasExactSynonym "MTMR4", "kiaa0647", "myotubularin-related protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9110 ; - skos:exactMatch HGNC_symbol:MTMR4 ; + skos:exactMatch UMLS:C1417438, + HGNC:7452, + HGNC_symbol:MTMR4 ; biolink:category biolink:Gene . OMIM:603560 a owl:Class ; @@ -175480,35 +180974,38 @@ OMIM:603560 a owl:Class ; PMID:9736772 ; RO:0002525 CHR:9606chr22q13.33 ; RO:0003303 OMIM:615284 ; - oboInOwl:hasDbXref UMLS:C1419823 ; oboInOwl:hasExactSynonym "SBF1", "myotubularin-related protein 5", "set-binding factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6305 ; - skos:exactMatch HGNC_symbol:SBF1 ; + skos:exactMatch UMLS:C1419823, + HGNC:10542, + HGNC_symbol:SBF1 ; biolink:category biolink:Gene . OMIM:603561 a owl:Class ; rdfs:label "MTMR6" ; IAO:0000142 PMID:9736772 ; - oboInOwl:hasDbXref UMLS:C1417439 ; oboInOwl:hasExactSynonym "MTMR6", "myotubularin-related protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9107 ; - skos:exactMatch HGNC_symbol:MTMR6 ; + skos:exactMatch UMLS:C1417439, + HGNC:7453, + HGNC_symbol:MTMR6 ; biolink:category biolink:Gene . OMIM:603562 a owl:Class ; rdfs:label "MTMR7" ; IAO:0000142 PMID:9736772 ; - oboInOwl:hasDbXref UMLS:C1417440 ; oboInOwl:hasExactSynonym "MTMR7", "myotubularin-related protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9108 ; - skos:exactMatch HGNC_symbol:MTMR7 ; + skos:exactMatch UMLS:C1417440, + HGNC:7454, + HGNC_symbol:MTMR7 ; biolink:category biolink:Gene . OMIM:603564 a owl:Class ; @@ -175520,27 +181017,29 @@ OMIM:603564 a owl:Class ; PMID:9724629 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:615042 ; - oboInOwl:hasDbXref UMLS:C1414138 ; oboInOwl:hasExactSynonym "DPM2", "dolichol-phosphate mannose synthase 2", "dolichol-phosphate mannosyltransferase 2", "dolichyl-phosphate mannosyltransferase 2, regulatory subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8818 ; - skos:exactMatch HGNC_symbol:DPM2 ; + skos:exactMatch UMLS:C1414138, + HGNC:3006, + HGNC_symbol:DPM2 ; biolink:category biolink:Gene . OMIM:603565 a owl:Class ; rdfs:label "GALNT4" ; IAO:0000142 PMID:8663203, PMID:9804815 ; - oboInOwl:hasDbXref UMLS:C1414954 ; oboInOwl:hasExactSynonym "GALNT4", "galnac transferase 4", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8693 ; - skos:exactMatch HGNC_symbol:GALNT4 ; + skos:exactMatch UMLS:C1414954, + HGNC:4126, + HGNC_symbol:GALNT4 ; biolink:category biolink:Gene . OMIM:603566 a owl:Class ; @@ -175555,14 +181054,15 @@ OMIM:603566 a owl:Class ; PMID:20966256, PMID:9177271, PMID:9724754 ; - oboInOwl:hasDbXref UMLS:C1413968 ; oboInOwl:hasExactSynonym "PIAS1", "dead/h box-binding protein 1", "gu-binding protein", "protein inhibitor of activated stat1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8554 ; - skos:exactMatch HGNC_symbol:PIAS1 ; + skos:exactMatch UMLS:C1413968, + HGNC:2752, + HGNC_symbol:PIAS1 ; biolink:category biolink:Gene . OMIM:603567 a owl:Class ; @@ -175570,7 +181070,6 @@ OMIM:603567 a owl:Class ; IAO:0000142 PMID:12193603, PMID:16713578, PMID:9724754 ; - oboInOwl:hasDbXref UMLS:C1538642 ; oboInOwl:hasExactSynonym "PIAS2", "miz1", "piasx-alpha", @@ -175579,19 +181078,22 @@ OMIM:603567 a owl:Class ; "protein inhibitor of activated stat2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9063 ; - skos:exactMatch HGNC_symbol:PIAS2 ; + skos:exactMatch UMLS:C1538642, + HGNC:17311, + HGNC_symbol:PIAS2 ; biolink:category biolink:Gene . OMIM:603568 a owl:Class ; rdfs:label "RNU73" ; IAO:0000142 PMID:9573378 ; - oboInOwl:hasDbXref UMLS:C1419582 ; oboInOwl:hasExactSynonym "RNU73", "rna, u73 small nucleolar", "snorna, u73" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8944 ; - skos:exactMatch HGNC_symbol:SNORD73A ; + skos:exactMatch UMLS:C1419582, + HGNC:10235, + HGNC_symbol:SNORD73A ; biolink:category biolink:Gene . OMIM:603569 a owl:Class ; @@ -175599,8 +181101,8 @@ OMIM:603569 a owl:Class ; IAO:0000142 PMID:3788886, PMID:3983862, PMID:9877045 ; - oboInOwl:hasDbXref UMLS:C1863703 ; - oboInOwl:hasExactSynonym "tracheobronchial stenosis, congenital" . + oboInOwl:hasExactSynonym "tracheobronchial stenosis, congenital" ; + skos:exactMatch UMLS:C1863703 . OMIM:603570 a owl:Class ; rdfs:label "VNN1" ; @@ -175617,32 +181119,34 @@ OMIM:603570 a owl:Class ; PMID:8934567, PMID:9790769 ; RO:0002525 CHR:9606chr6q23.2 ; - oboInOwl:hasDbXref UMLS:C1421459, - UMLS:C3888129 ; oboInOwl:hasExactSynonym "VNN1", "high density lipoprotein cholesterol level quantitative trait locus 8", "vanin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8876 ; - skos:exactMatch HGNC_symbol:VNN1 ; + skos:exactMatch UMLS:C1421459, + UMLS:C3888129, + HGNC:12705, + HGNC_symbol:VNN1 ; biolink:category biolink:Gene . OMIM:603571 a owl:Class ; rdfs:label "VNN2" ; IAO:0000142 PMID:9790769 ; - oboInOwl:hasDbXref UMLS:C1421460 ; oboInOwl:hasExactSynonym "VNN2", "vanin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8875 ; - skos:exactMatch HGNC_symbol:VNN2 ; + skos:exactMatch UMLS:C1421460, + HGNC:12706, + HGNC_symbol:VNN2 ; biolink:category biolink:Gene . OMIM:603572 a owl:Class ; rdfs:label "microcephaly, facial abnormalities, micromelia, and mental retardation" ; IAO:0000142 PMID:9852671 ; - oboInOwl:hasDbXref UMLS:C1863702 ; - oboInOwl:hasExactSynonym "microcephaly, facial abnormalities, micromelia, and mental retardation" . + oboInOwl:hasExactSynonym "microcephaly, facial abnormalities, micromelia, and mental retardation" ; + skos:exactMatch UMLS:C1863702 . OMIM:603573 a owl:Class ; rdfs:label "MBD3" ; @@ -175652,12 +181156,13 @@ OMIM:603573 a owl:Class ; PMID:21196933, PMID:24048479, PMID:9774669 ; - oboInOwl:hasDbXref UMLS:C1417051 ; oboInOwl:hasExactSynonym "MBD3", "methyl-cpg-binding domain protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53615 ; - skos:exactMatch HGNC_symbol:MBD3 ; + skos:exactMatch UMLS:C1417051, + HGNC:6918, + HGNC_symbol:MBD3 ; biolink:category biolink:Gene . OMIM:603574 a owl:Class ; @@ -175673,13 +181178,14 @@ OMIM:603574 a owl:Class ; PMID:19829383, PMID:9774669, PMID:9823339 ; - oboInOwl:hasDbXref UMLS:C1417052 ; oboInOwl:hasExactSynonym "MBD4", "methyl-cpg-binding domain protein 4", "methyl-cpg-binding endonuclease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8930 ; - skos:exactMatch HGNC_symbol:MBD4 ; + skos:exactMatch UMLS:C1417052, + HGNC:6919, + HGNC_symbol:MBD4 ; biolink:category biolink:Gene . OMIM:603575 a owl:Class ; @@ -175687,7 +181193,6 @@ OMIM:603575 a owl:Class ; IAO:0000142 PMID:11161817, PMID:31479451, PMID:9742940 ; - oboInOwl:hasDbXref UMLS:C1417744 ; oboInOwl:hasExactSynonym "NME5", "nme/nm23 family, member 5", "nme/nm23 nucleoside diphosphate kinase 5", @@ -175696,7 +181201,9 @@ OMIM:603575 a owl:Class ; "radial spoke head 23, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8382 ; - skos:exactMatch HGNC_symbol:NME5 ; + skos:exactMatch UMLS:C1417744, + HGNC:7853, + HGNC_symbol:NME5 ; biolink:category biolink:Gene . OMIM:603576 a owl:Class ; @@ -175715,50 +181222,54 @@ OMIM:603576 a owl:Class ; PMID:9806836 ; RO:0002525 CHR:9606chr15q13.3 ; RO:0003303 OMIM:613216 ; - oboInOwl:hasDbXref UMLS:C1417194 ; oboInOwl:hasExactSynonym "TRPM1", "melastatin 1", "transient receptor potential cation channel, subfamily m, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4308 ; - skos:exactMatch HGNC_symbol:TRPM1 ; + skos:exactMatch UMLS:C1417194, + HGNC:7146, + HGNC_symbol:TRPM1 ; biolink:category biolink:Gene . OMIM:603577 a owl:Class ; rdfs:label "NOL4" ; IAO:0000142 PMID:12644935, PMID:9813152 ; - oboInOwl:hasDbXref UMLS:C1417757 ; oboInOwl:hasExactSynonym "NOL4", "nucleolar protein 4", "nucleolar-localized protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8715 ; - skos:exactMatch HGNC_symbol:NOL4 ; + skos:exactMatch UMLS:C1417757, + HGNC:7870, + HGNC_symbol:NOL4 ; biolink:category biolink:Gene . OMIM:603578 a owl:Class ; rdfs:label "OVGP1" ; IAO:0000142 PMID:7819450 ; - oboInOwl:hasDbXref UMLS:C1418204 ; oboInOwl:hasExactSynonym "OVGP1", "oviductal glycoprotein 1", "oviductal glycoprotein, 120-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5016 ; - skos:exactMatch HGNC_symbol:OVGP1 ; + skos:exactMatch UMLS:C1418204, + HGNC:8524, + HGNC_symbol:OVGP1 ; biolink:category biolink:Gene . OMIM:603579 a owl:Class ; rdfs:label "RIOK3" ; IAO:0000142 PMID:9602165 ; - oboInOwl:hasDbXref UMLS:C1420513 ; oboInOwl:hasExactSynonym "RIOK3", "rio kinase 3", "sudd, aspergillus nidulans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8780 ; - skos:exactMatch HGNC_symbol:RIOK3 ; + skos:exactMatch UMLS:C1420513, + HGNC:11451, + HGNC_symbol:RIOK3 ; biolink:category biolink:Gene . OMIM:603580 a owl:Class ; @@ -175766,23 +181277,25 @@ OMIM:603580 a owl:Class ; IAO:0000142 PMID:11549318, PMID:9315676, PMID:9787079 ; - oboInOwl:hasDbXref UMLS:C1418309 ; oboInOwl:hasExactSynonym "PCDH8", "protocadherin 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5100 ; - skos:exactMatch HGNC_symbol:PCDH8 ; + skos:exactMatch UMLS:C1418309, + HGNC:8660, + HGNC_symbol:PCDH8 ; biolink:category biolink:Gene . OMIM:603581 a owl:Class ; rdfs:label "PCDH9" ; IAO:0000142 PMID:9787079 ; - oboInOwl:hasDbXref UMLS:C1418310 ; oboInOwl:hasExactSynonym "PCDH9", "protocadherin 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5101 ; - skos:exactMatch HGNC_symbol:PCDH9 ; + skos:exactMatch UMLS:C1418310, + HGNC:8661, + HGNC_symbol:PCDH9 ; biolink:category biolink:Gene . OMIM:603582 a owl:Class ; @@ -175794,13 +181307,14 @@ OMIM:603582 a owl:Class ; PMID:9074928, PMID:9448276, PMID:9786843 ; - oboInOwl:hasDbXref UMLS:C1420860 ; oboInOwl:hasExactSynonym "TOP3B", "topoisomerase iii-beta", "topoisomerase, dna, iii, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8940 ; - skos:exactMatch HGNC_symbol:TOP3B ; + skos:exactMatch UMLS:C1420860, + HGNC:11993, + HGNC_symbol:TOP3B ; biolink:category biolink:Gene . OMIM:603583 a owl:Class ; @@ -175808,7 +181322,6 @@ OMIM:603583 a owl:Class ; IAO:0000142 PMID:7477295, PMID:8755482, PMID:9806853 ; - oboInOwl:hasDbXref UMLS:C1414064 ; oboInOwl:hasExactSynonym "DLG2", "channel-associated protein of synapses, 110-kd", "chapsyn-110", @@ -175816,7 +181329,9 @@ OMIM:603583 a owl:Class ; "discs large, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1740 ; - skos:exactMatch HGNC_symbol:DLG2 ; + skos:exactMatch UMLS:C1414064, + HGNC:2901, + HGNC_symbol:DLG2 ; biolink:category biolink:Gene . OMIM:603584 a owl:Class ; @@ -175833,9 +181348,6 @@ OMIM:603584 a owl:Class ; PMID:9796103 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:619005 ; - oboInOwl:hasDbXref UMLS:C1366909, - UMLS:C5436579, - UMLS:C5436585 ; oboInOwl:hasExactSynonym "MADD", "differentially expressed 1n normal and neoplastic cells", "insulinoma-glucagonoma protein 20", @@ -175844,7 +181356,11 @@ OMIM:603584 a owl:Class ; "rab3 gdp/gtp exchange protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8567 ; - skos:exactMatch HGNC_symbol:MADD ; + skos:exactMatch UMLS:C1366909, + UMLS:C5436579, + UMLS:C5436585, + HGNC:6766, + HGNC_symbol:MADD ; biolink:category biolink:Gene . OMIM:603586 a owl:Class ; @@ -175854,20 +181370,20 @@ OMIM:603586 a owl:Class ; OMIM:603587 a owl:Class ; rdfs:label "follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts" ; IAO:0000142 PMID:10025974 ; - oboInOwl:hasDbXref UMLS:C1863692 ; - oboInOwl:hasExactSynonym "follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts" . + oboInOwl:hasExactSynonym "follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts" ; + skos:exactMatch UMLS:C1863692 . OMIM:603588 a owl:Class ; rdfs:label "parotitis, juvenile recurrent" ; IAO:0000142 PMID:9610807 ; - oboInOwl:hasDbXref UMLS:C1863691 ; - oboInOwl:hasExactSynonym "parotitis, juvenile recurrent" . + oboInOwl:hasExactSynonym "parotitis, juvenile recurrent" ; + skos:exactMatch UMLS:C1863691 . OMIM:603589 a owl:Class ; rdfs:label "facial dysmorphism, selective tooth agenesis, and choroid calcification" ; IAO:0000142 PMID:9610812 ; - oboInOwl:hasDbXref UMLS:C1970343 ; - oboInOwl:hasExactSynonym "facial dysmorphism, selective tooth agenesis, and choroid calcification" . + oboInOwl:hasExactSynonym "facial dysmorphism, selective tooth agenesis, and choroid calcification" ; + skos:exactMatch UMLS:C1970343 . OMIM:603590 a owl:Class ; rdfs:label "LARGE1" ; @@ -175889,9 +181405,6 @@ OMIM:603590 a owl:Class ; PMID:9892679 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:608840 ; - oboInOwl:hasDbXref UMLS:C1416798, - UMLS:C1837229, - UMLS:C3150414 ; oboInOwl:hasExactSynonym "LARGE1", "acetylglucosaminyltransferase-like protein", "kiaa0609", @@ -175899,20 +181412,25 @@ OMIM:603590 a owl:Class ; "like-glycosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9215 ; - skos:exactMatch HGNC_symbol:LARGE1 ; + skos:exactMatch UMLS:C1416798, + UMLS:C1837229, + UMLS:C3150414, + HGNC:6511, + HGNC_symbol:LARGE1 ; biolink:category biolink:Gene . OMIM:603591 a owl:Class ; rdfs:label "USP13" ; IAO:0000142 PMID:21962518, PMID:9841226 ; - oboInOwl:hasDbXref UMLS:C1421390 ; oboInOwl:hasExactSynonym "USP13", "isopeptidase t3", "ubiquitin-specific protease 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8975 ; - skos:exactMatch HGNC_symbol:USP13 ; + skos:exactMatch UMLS:C1421390, + HGNC:12611, + HGNC_symbol:USP13 ; biolink:category biolink:Gene . OMIM:603593 a owl:Class ; @@ -175929,14 +181447,15 @@ OMIM:603593 a owl:Class ; PMID:9829974 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:222700 ; - oboInOwl:hasDbXref UMLS:C1420226 ; oboInOwl:hasExactSynonym "SLC7A7", "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7", "y(+)l-type amino acid transporter 1", "y(+)lat1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9056 ; - skos:exactMatch HGNC_symbol:SLC7A7 ; + skos:exactMatch UMLS:C1420226, + HGNC:11065, + HGNC_symbol:SLC7A7 ; biolink:category biolink:Gene . OMIM:603594 a owl:Class ; @@ -175954,7 +181473,6 @@ OMIM:603594 a owl:Class ; PMID:9790919 ; RO:0002525 CHR:9606chr1q25.1 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1336648 ; oboInOwl:hasExactSynonym "TNFSF4", "cd134 ligand", "glycoprotein, 34-kd", @@ -175962,7 +181480,9 @@ OMIM:603594 a owl:Class ; "tumor necrosis factor ligand superfamily, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7292 ; - skos:exactMatch HGNC_symbol:TNFSF4 ; + skos:exactMatch UMLS:C1336648, + HGNC:11934, + HGNC_symbol:TNFSF4 ; biolink:category biolink:Gene . OMIM:603595 a owl:Class ; @@ -175972,16 +181492,16 @@ OMIM:603595 a owl:Class ; PMID:15433461, PMID:15704181, PMID:1570930 ; - oboInOwl:hasDbXref UMLS:C1863678 ; - oboInOwl:hasExactSynonym "craniosynostosis with ectopia lentis" . + oboInOwl:hasExactSynonym "craniosynostosis with ectopia lentis" ; + skos:exactMatch UMLS:C1863678 . OMIM:603596 a owl:Class ; rdfs:label "polydactyly" ; IAO:0000142 PMID:12357471, PMID:8923939, PMID:9880209 ; - oboInOwl:hasDbXref UMLS:C0152427 ; oboInOwl:hasExactSynonym "polydactyly" ; + skos:exactMatch UMLS:C0152427 ; biolink:category biolink:Disease . OMIM:603597 a owl:Class ; @@ -176012,7 +181532,6 @@ OMIM:603597 a owl:Class ; PMID:9919312 ; RO:0002525 CHR:9606chr16p13.13 ; RO:0003303 OMIM:619375 ; - oboInOwl:hasDbXref UMLS:C1426208 ; oboInOwl:hasExactSynonym "SOCS1", "cytokine-inducible sh2 protein 1", "jak-binding protein", @@ -176021,7 +181540,9 @@ OMIM:603597 a owl:Class ; "tec-interacting protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8651 ; - skos:exactMatch HGNC_symbol:SOCS1 ; + skos:exactMatch UMLS:C1426208, + HGNC:19383, + HGNC_symbol:SOCS1 ; biolink:category biolink:Gene . OMIM:603598 a owl:Class ; @@ -176051,14 +181572,15 @@ OMIM:603598 a owl:Class ; PMID:8663110, PMID:8777713, PMID:9430226 ; - oboInOwl:hasDbXref UMLS:C1336646 ; oboInOwl:hasExactSynonym "TNFSF10", "apo2 ligand", "tnf-related apoptosis-inducing ligand", "tumor necrosis factor ligand superfamily, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8743 ; - skos:exactMatch HGNC_symbol:TNFSF10 ; + skos:exactMatch UMLS:C1336646, + HGNC:11925, + HGNC_symbol:TNFSF10 ; biolink:category biolink:Gene . OMIM:603599 a owl:Class ; @@ -176078,7 +181600,6 @@ OMIM:603599 a owl:Class ; PMID:9289491, PMID:9326610, PMID:9380701 ; - oboInOwl:hasDbXref UMLS:C1413357 ; oboInOwl:hasExactSynonym "CFLAR", "casp8- and fadd-like apoptosis regulator", "caspase homolog", @@ -176090,14 +181611,16 @@ OMIM:603599 a owl:Class ; "mach-related inducer of toxicity" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8837 ; - skos:exactMatch HGNC_symbol:CFLAR ; + skos:exactMatch UMLS:C1413357, + HGNC:1876, + HGNC_symbol:CFLAR ; biolink:category biolink:Gene . OMIM:603600 a owl:Class ; rdfs:label "osteoma of cranial vault, familial" ; IAO:0000142 PMID:9579189 ; - oboInOwl:hasDbXref UMLS:C1863677 ; - oboInOwl:hasExactSynonym "osteoma of cranial vault, familial" . + oboInOwl:hasExactSynonym "osteoma of cranial vault, familial" ; + skos:exactMatch UMLS:C1863677 . OMIM:603601 a owl:Class ; rdfs:label "PIK3C2A" ; @@ -176108,40 +181631,43 @@ OMIM:603601 a owl:Class ; PMID:9337861 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:618440 ; - oboInOwl:hasDbXref UMLS:C1418571 ; oboInOwl:hasExactSynonym "PIK3C2A", "c2-containing phosphatidylinositol kinase", "phosphatidylinositol 3-kinase, class 2, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5286 ; - skos:exactMatch HGNC_symbol:PIK3C2A ; + skos:exactMatch UMLS:C1418571, + HGNC:8971, + HGNC_symbol:PIK3C2A ; biolink:category biolink:Gene . OMIM:603602 a owl:Class ; rdfs:label "PLA2G4C" ; IAO:0000142 PMID:10085124, PMID:9705332 ; - oboInOwl:hasDbXref UMLS:C1418622 ; oboInOwl:hasExactSynonym "PLA2G4C", "cpla2-gamma", "phospholipase a2, cytosolic, calcium-independent, gamma", "phospholipase a2, group 4c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8605 ; - skos:exactMatch HGNC_symbol:PLA2G4C ; + skos:exactMatch UMLS:C1418622, + HGNC:9037, + HGNC_symbol:PLA2G4C ; biolink:category biolink:Gene . OMIM:603603 a owl:Class ; rdfs:label "PLA2G10" ; IAO:0000142 PMID:9188469 ; - oboInOwl:hasDbXref UMLS:C1418616 ; oboInOwl:hasExactSynonym "PLA2G10", "phospholipase a2, group 10", "phospholipase a2, secretory, calcium-dependent, group 10", "secretory phospholipase a2, group 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8399 ; - skos:exactMatch HGNC_symbol:PLA2G10 ; + skos:exactMatch UMLS:C1418616, + HGNC:9029, + HGNC_symbol:PLA2G10 ; biolink:category biolink:Gene . OMIM:603604 a owl:Class ; @@ -176164,7 +181690,6 @@ OMIM:603604 a owl:Class ; PMID:9417066 ; RO:0002525 CHR:9606chr22q13.1 ; RO:0003303 OMIM:612953 ; - oboInOwl:hasDbXref UMLS:C1418624 ; oboInOwl:hasExactSynonym "PLA2G6", "ipla2-via", "patatin-like phospholipase domain-containing protein 9", @@ -176173,7 +181698,9 @@ OMIM:603604 a owl:Class ; "phospholipase a2, group 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8398 ; - skos:exactMatch HGNC_symbol:PLA2G6 ; + skos:exactMatch UMLS:C1418624, + HGNC:9039, + HGNC_symbol:PLA2G6 ; biolink:category biolink:Gene . OMIM:603605 a owl:Class ; @@ -176193,7 +181720,6 @@ OMIM:603605 a owl:Class ; PMID:9405472 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:260600 ; - oboInOwl:hasDbXref UMLS:C1419881 ; oboInOwl:hasExactSynonym "AIMP1", "aminoacyl-trna synthetase complex-interacting multifunctional protein 1", "ars-interacting multifunctional protein 1", @@ -176201,14 +181727,15 @@ OMIM:603605 a owl:Class ; "small inducible cytokine subfamily e, member 1, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9255 ; - skos:exactMatch HGNC_symbol:AIMP1 ; + skos:exactMatch UMLS:C1419881, + HGNC:10648, + HGNC_symbol:AIMP1 ; biolink:category biolink:Gene . OMIM:603606 a owl:Class ; rdfs:label "RPS6KA4" ; IAO:0000142 PMID:9687510, PMID:9792677 ; - oboInOwl:hasDbXref UMLS:C1419745 ; oboInOwl:hasExactSynonym "RPS6KA4", "mitogen- and stress-activated protein kinase 2", "ribosomal protein s6 kinase a4", @@ -176216,44 +181743,49 @@ OMIM:603606 a owl:Class ; "ribosomal s6 kinase B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8986 ; - skos:exactMatch HGNC_symbol:RPS6KA4 ; + skos:exactMatch UMLS:C1419745, + HGNC:10433, + HGNC_symbol:RPS6KA4 ; biolink:category biolink:Gene . OMIM:603607 a owl:Class ; rdfs:label "RPS6KA5" ; IAO:0000142 PMID:10702687, PMID:9687510 ; - oboInOwl:hasDbXref UMLS:C1419746 ; oboInOwl:hasExactSynonym "RPS6KA5", "mitogen- and stress-activated protein kinase 1", "ribosomal protein s6 kinase a5", "ribosomal protein s6 kinase, 90-kd, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9252 ; - skos:exactMatch HGNC_symbol:RPS6KA5 ; + skos:exactMatch UMLS:C1419746, + HGNC:10434, + HGNC_symbol:RPS6KA5 ; biolink:category biolink:Gene . OMIM:603608 a owl:Class ; rdfs:label "CBR3" ; IAO:0000142 PMID:9740676 ; - oboInOwl:hasDbXref UMLS:C1413155 ; oboInOwl:hasExactSynonym "CBR3", "carbonyl reductase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:874 ; - skos:exactMatch HGNC_symbol:CBR3 ; + skos:exactMatch UMLS:C1413155, + HGNC:1549, + HGNC_symbol:CBR3 ; biolink:category biolink:Gene . OMIM:603609 a owl:Class ; rdfs:label "FPGT" ; IAO:0000142 PMID:9804772 ; - oboInOwl:hasDbXref UMLS:C1414690 ; oboInOwl:hasExactSynonym "FPGT", "fucose-1-phosphate guanylyltransferase", "gdp-beta-l-fucose pyrophosphorylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8790 ; - skos:exactMatch HGNC_symbol:FPGT ; + skos:exactMatch UMLS:C1414690, + HGNC:3825, + HGNC_symbol:FPGT ; biolink:category biolink:Gene . OMIM:603610 a owl:Class ; @@ -176266,14 +181798,15 @@ OMIM:603610 a owl:Class ; PMID:9126743, PMID:9389662, PMID:9782087 ; - oboInOwl:hasDbXref UMLS:C1421359 ; oboInOwl:hasExactSynonym "UNC5C", "unc5 netrin receptor c", "unc5, c. elegans, homolog of, c", "unc5h3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8633 ; - skos:exactMatch HGNC_symbol:UNC5C ; + skos:exactMatch UMLS:C1421359, + HGNC:12569, + HGNC_symbol:UNC5C ; biolink:category biolink:Gene . OMIM:603611 a owl:Class ; @@ -176282,7 +181815,6 @@ OMIM:603611 a owl:Class ; PMID:18079967, PMID:9082980, PMID:9382840 ; - oboInOwl:hasDbXref UMLS:C1336643 ; oboInOwl:hasExactSynonym "TNFRSF10A", "apo2", "death receptor 4", @@ -176290,7 +181822,9 @@ OMIM:603611 a owl:Class ; "tumor necrosis factor receptor superfamily, member 10a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8797 ; - skos:exactMatch HGNC_symbol:TNFRSF10A ; + skos:exactMatch UMLS:C1336643, + HGNC:11904, + HGNC_symbol:TNFRSF10A ; biolink:category biolink:Gene . OMIM:603612 a owl:Class ; @@ -176311,7 +181845,6 @@ OMIM:603612 a owl:Class ; PMID:9721851 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:275355 ; - oboInOwl:hasDbXref UMLS:C1336644 ; oboInOwl:hasExactSynonym "TNFRSF10B", "death receptor 5", "killer/dr5", @@ -176320,7 +181853,9 @@ OMIM:603612 a owl:Class ; "tumor necrosis factor receptor superfamily, member 10b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8795 ; - skos:exactMatch HGNC_symbol:TNFRSF10B ; + skos:exactMatch UMLS:C1336644, + HGNC:11905, + HGNC_symbol:TNFRSF10B ; biolink:category biolink:Gene . OMIM:603613 a owl:Class ; @@ -176331,7 +181866,6 @@ OMIM:603613 a owl:Class ; PMID:9325248, PMID:9373179, PMID:9382840 ; - oboInOwl:hasDbXref UMLS:C1420803 ; oboInOwl:hasExactSynonym "TNFRSF10C", "decoy receptor 1", "tnf-related apoptosis-inducing ligand receptor 3", @@ -176339,7 +181873,9 @@ OMIM:603613 a owl:Class ; "tumor necrosis factor receptor superfamily, member 10c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8794 ; - skos:exactMatch HGNC_symbol:TNFRSF10C ; + skos:exactMatch UMLS:C1420803, + HGNC:11906, + HGNC_symbol:TNFRSF10C ; biolink:category biolink:Gene . OMIM:603614 a owl:Class ; @@ -176347,7 +181883,6 @@ OMIM:603614 a owl:Class ; IAO:0000142 PMID:9382840, PMID:9430226, PMID:9537512 ; - oboInOwl:hasDbXref UMLS:C1420804 ; oboInOwl:hasExactSynonym "TNFRSF10D", "decoy receptor 2", "tnf-related apoptosis-inducing ligand receptor 4", @@ -176355,7 +181890,9 @@ OMIM:603614 a owl:Class ; "tumor necrosis factor receptor superfamily, member 10d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8793 ; - skos:exactMatch HGNC_symbol:TNFRSF10D ; + skos:exactMatch UMLS:C1420804, + HGNC:11907, + HGNC_symbol:TNFRSF10D ; biolink:category biolink:Gene . OMIM:603615 a owl:Class ; @@ -176366,14 +181903,15 @@ OMIM:603615 a owl:Class ; PMID:8805304 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:114480 ; - oboInOwl:hasDbXref UMLS:C1419244 ; oboInOwl:hasExactSynonym "RAD54L", "hrad54", "rad54, s. cerevisiae, homolog-like hr54", "rad54-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8438 ; - skos:exactMatch HGNC_symbol:RAD54L ; + skos:exactMatch UMLS:C1419244, + HGNC:9826, + HGNC_symbol:RAD54L ; biolink:category biolink:Gene . OMIM:603616 a owl:Class ; @@ -176385,15 +181923,16 @@ OMIM:603616 a owl:Class ; PMID:8521472, PMID:9045618, PMID:9323142 ; - oboInOwl:hasDbXref UMLS:C1425034, - UMLS:C1868261 ; oboInOwl:hasExactSynonym "RABEP1", "rabaptin 5", "rabaptin, rab gtpase-binding effector protein 1", "rabep1/pdgfrb fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9135 ; - skos:exactMatch HGNC_symbol:RABEP1 ; + skos:exactMatch UMLS:C1425034, + UMLS:C1868261, + HGNC:17677, + HGNC_symbol:RABEP1 ; biolink:category biolink:Gene . OMIM:603617 a owl:Class ; @@ -176405,13 +181944,14 @@ OMIM:603617 a owl:Class ; PMID:9856482 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:613830 ; - oboInOwl:hasDbXref UMLS:C1420146 ; oboInOwl:hasExactSynonym "SLC24A1", "sodium/calcium/potassium exchanger 1", "solute carrier family 24 (sodium/potassium/calcium exchanger), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9187 ; - skos:exactMatch HGNC_symbol:SLC24A1 ; + skos:exactMatch UMLS:C1420146, + HGNC:10975, + HGNC_symbol:SLC24A1 ; biolink:category biolink:Gene . OMIM:603618 a owl:Class ; @@ -176428,14 +181968,15 @@ OMIM:603618 a owl:Class ; PMID:7513050, PMID:9682218, PMID:9734353 ; - oboInOwl:hasDbXref UMLS:C1413256 ; oboInOwl:hasExactSynonym "CDC20", "cell division cycle 20", "cell division cycle 20, s. cerevisiae, homolog of", "p55cdc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:991 ; - skos:exactMatch HGNC_symbol:CDC20 ; + skos:exactMatch UMLS:C1413256, + HGNC:1723, + HGNC_symbol:CDC20 ; biolink:category biolink:Gene . OMIM:603619 a owl:Class ; @@ -176445,7 +181986,6 @@ OMIM:603619 a owl:Class ; PMID:16364912, PMID:29875408, PMID:9734353 ; - oboInOwl:hasDbXref UMLS:C1428414 ; oboInOwl:hasExactSynonym "FZR1", "cdh1/hct1, s. cerevisiae, homolog of", "fizzy and cell division cycle 20-related protein 1", @@ -176454,7 +181994,9 @@ OMIM:603619 a owl:Class ; "kiaa1242" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51343 ; - skos:exactMatch HGNC_symbol:FZR1 ; + skos:exactMatch UMLS:C1428414, + HGNC:24824, + HGNC_symbol:FZR1 ; biolink:category biolink:Gene . OMIM:603620 a owl:Class ; @@ -176468,7 +182010,6 @@ OMIM:603620 a owl:Class ; PMID:16959972, PMID:9822615, PMID:9885563 ; - oboInOwl:hasDbXref UMLS:C1335268 ; oboInOwl:hasExactSynonym "PSIP1", "lens epithelium-derived growth factor", "pc4- and sfrs1-interacting protein 1", @@ -176476,7 +182017,9 @@ OMIM:603620 a owl:Class ; "transcriptional coactivator p75" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11168 ; - skos:exactMatch HGNC_symbol:PSIP1 ; + skos:exactMatch UMLS:C1335268, + HGNC:9527, + HGNC_symbol:PSIP1 ; biolink:category biolink:Gene . OMIM:603621 a owl:Class ; @@ -176487,14 +182030,15 @@ OMIM:603621 a owl:Class ; PMID:19525021, PMID:19933292, PMID:9702198 ; - oboInOwl:hasDbXref UMLS:C1414681 ; oboInOwl:hasExactSynonym "FOXH1", "forkhead activin signal transducer 1, xenopus, homolog of", "forkhead box h1", "tgf-beta/activin signal transducer fast1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8928 ; - skos:exactMatch HGNC_symbol:FOXH1 ; + skos:exactMatch UMLS:C1414681, + HGNC:3814, + HGNC_symbol:FOXH1 ; biolink:category biolink:Gene . OMIM:603622 a owl:Class ; @@ -176504,12 +182048,12 @@ OMIM:603622 a owl:Class ; PMID:25505834, PMID:9390828, PMID:9915977 ; - oboInOwl:hasDbXref UMLS:C1863659, - UMLS:C1863660 ; oboInOwl:hasExactSynonym "DFNA17", "cochleosaccular degeneration", "deafness, autosomal dominant 17" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1863659, + UMLS:C1863660 ; biolink:category biolink:Disease . OMIM:603623 a owl:Class ; @@ -176529,9 +182073,6 @@ OMIM:603623 a owl:Class ; PMID:9162081 ; RO:0002525 CHR:9606chr1p35.1 ; RO:0003303 OMIM:619418 ; - oboInOwl:hasDbXref UMLS:C1337037, - UMLS:C1842237, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "YARS1", "tyrosyl-trna synthetase 1", "tyrrs", @@ -176540,30 +182081,36 @@ OMIM:603623 a owl:Class ; "yts" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8565 ; - skos:exactMatch HGNC_symbol:YARS1 ; + skos:exactMatch UMLS:C1337037, + UMLS:C1842237, + UMLS:C2986382, + HGNC:12840, + HGNC_symbol:YARS1 ; biolink:category biolink:Gene . OMIM:603624 a owl:Class ; rdfs:label "RPS2" ; IAO:0000142 PMID:2308862, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419718 ; oboInOwl:hasExactSynonym "RPS2", "ribosomal protein s2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6187 ; - skos:exactMatch HGNC_symbol:RPS2 ; + skos:exactMatch UMLS:C1419718, + HGNC:10404, + HGNC_symbol:RPS2 ; biolink:category biolink:Gene . OMIM:603625 a owl:Class ; rdfs:label "LY6H" ; IAO:0000142 PMID:9799603 ; - oboInOwl:hasDbXref UMLS:C1416938 ; oboInOwl:hasExactSynonym "LY6H", "lymphocyte antigen 6 complex, locus h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4062 ; - skos:exactMatch HGNC_symbol:LY6H ; + skos:exactMatch UMLS:C1416938, + HGNC:6728, + HGNC_symbol:LY6H ; biolink:category biolink:Gene . OMIM:603626 a owl:Class ; @@ -176572,13 +182119,14 @@ OMIM:603626 a owl:Class ; PMID:8508762, PMID:8575755, PMID:9132272 ; - oboInOwl:hasDbXref UMLS:C1418305 ; oboInOwl:hasExactSynonym "PCDH1", "pc42", "protocadherin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5097 ; - skos:exactMatch HGNC_symbol:PCDH1 ; + skos:exactMatch UMLS:C1418305, + HGNC:8655, + HGNC_symbol:PCDH1 ; biolink:category biolink:Gene . OMIM:603627 a owl:Class ; @@ -176587,7 +182135,6 @@ OMIM:603627 a owl:Class ; PMID:11230163, PMID:8508762, PMID:8575755 ; - oboInOwl:hasDbXref UMLS:C1418365 ; oboInOwl:hasExactSynonym "PCDHGC3", "pc43", "pcdh-gamma-c3", @@ -176595,7 +182142,9 @@ OMIM:603627 a owl:Class ; "protocadherin-gamma, subfamily c, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5098 ; - skos:exactMatch HGNC_symbol:PCDHGC3 ; + skos:exactMatch UMLS:C1418365, + HGNC:8716, + HGNC_symbol:PCDHGC3 ; biolink:category biolink:Gene . OMIM:603628 a owl:Class ; @@ -176605,14 +182154,15 @@ OMIM:603628 a owl:Class ; PMID:9584154, PMID:9767165, PMID:9892671 ; - oboInOwl:hasDbXref UMLS:C1334531 ; oboInOwl:hasExactSynonym "MSC", "activated b-cell factor 1", "musculin", "myogenic repressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9242 ; - skos:exactMatch HGNC_symbol:MSC ; + skos:exactMatch UMLS:C1334531, + HGNC:7321, + HGNC_symbol:MSC ; biolink:category biolink:Gene . OMIM:603630 a owl:Class ; @@ -176620,12 +182170,13 @@ OMIM:603630 a owl:Class ; IAO:0000142 PMID:7711732, PMID:7772601, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419738 ; oboInOwl:hasExactSynonym "RPS5", "ribosomal protein s5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6193 ; - skos:exactMatch HGNC_symbol:RPS5 ; + skos:exactMatch UMLS:C1419738, + HGNC:10426, + HGNC_symbol:RPS5 ; biolink:category biolink:Gene . OMIM:603631 a owl:Class ; @@ -176633,12 +182184,13 @@ OMIM:603631 a owl:Class ; IAO:0000142 PMID:7711732, PMID:7772601, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419753 ; oboInOwl:hasExactSynonym "RPS9", "ribosomal protein s9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6203 ; - skos:exactMatch HGNC_symbol:RPS9 ; + skos:exactMatch UMLS:C1419753, + HGNC:10442, + HGNC_symbol:RPS9 ; biolink:category biolink:Gene . OMIM:603632 a owl:Class ; @@ -176652,12 +182204,13 @@ OMIM:603632 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:613308 ; - oboInOwl:hasDbXref UMLS:C1419699 ; oboInOwl:hasExactSynonym "RPS10", "ribosomal protein s10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6204 ; - skos:exactMatch HGNC_symbol:RPS10 ; + skos:exactMatch UMLS:C1419699, + HGNC:10383, + HGNC_symbol:RPS10 ; biolink:category biolink:Gene . OMIM:603633 a owl:Class ; @@ -176669,12 +182222,13 @@ OMIM:603633 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr14q21.3 ; RO:0003303 OMIM:615909 ; - oboInOwl:hasDbXref UMLS:C1419732 ; oboInOwl:hasExactSynonym "RPS29", "ribosomal protein s29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6235 ; - skos:exactMatch HGNC_symbol:RPS29 ; + skos:exactMatch UMLS:C1419732, + HGNC:10419, + HGNC_symbol:RPS29 ; biolink:category biolink:Gene . OMIM:603634 a owl:Class ; @@ -176693,25 +182247,27 @@ OMIM:603634 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr1p22.1 ; RO:0003303 OMIM:612561 ; - oboInOwl:hasDbXref UMLS:C1419683 ; oboInOwl:hasExactSynonym "RPL5", "ribosomal protein l5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6125 ; - skos:exactMatch HGNC_symbol:RPL5 ; + skos:exactMatch UMLS:C1419683, + HGNC:10360, + HGNC_symbol:RPL5 ; biolink:category biolink:Gene . OMIM:603635 a owl:Class ; rdfs:label "SNORD21" ; IAO:0000142 PMID:7937132 ; - oboInOwl:hasDbXref UMLS:C1419491 ; oboInOwl:hasExactSynonym "SNORD21", "rna, u21 small nucleolar", "small nucleolar rna, c/d box, 21", "snorna, u21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6083 ; - skos:exactMatch HGNC_symbol:SNORD21 ; + skos:exactMatch UMLS:C1419491, + HGNC:10144, + HGNC_symbol:SNORD21 ; biolink:category biolink:Gene . OMIM:603636 a owl:Class ; @@ -176724,12 +182280,13 @@ OMIM:603636 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr13q12.2 ; RO:0003303 OMIM:615885 ; - oboInOwl:hasDbXref UMLS:C1419637 ; oboInOwl:hasExactSynonym "RPL21", "ribosomal protein l21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6144 ; - skos:exactMatch HGNC_symbol:RPL21 ; + skos:exactMatch UMLS:C1419637, + HGNC:10313, + HGNC_symbol:RPL21 ; biolink:category biolink:Gene . OMIM:603637 a owl:Class ; @@ -176738,12 +182295,13 @@ OMIM:603637 a owl:Class ; PMID:7711732, PMID:7772601, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419653 ; oboInOwl:hasExactSynonym "RPL27A", "ribosomal protein l27a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6157 ; - skos:exactMatch HGNC_symbol:RPL27A ; + skos:exactMatch UMLS:C1419653, + HGNC:10329, + HGNC_symbol:RPL27A ; biolink:category biolink:Gene . OMIM:603638 a owl:Class ; @@ -176752,12 +182310,13 @@ OMIM:603638 a owl:Class ; PMID:7711732, PMID:7772601, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419654 ; oboInOwl:hasExactSynonym "RPL28", "ribosomal protein l28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6158 ; - skos:exactMatch HGNC_symbol:RPL28 ; + skos:exactMatch UMLS:C1419654, + HGNC:10330, + HGNC_symbol:RPL28 ; biolink:category biolink:Gene . OMIM:603639 a owl:Class ; @@ -176784,46 +182343,48 @@ OMIM:603639 a owl:Class ; PMID:9812885 ; RO:0002525 CHR:9606chr2p25.1 ; RO:0003303 OMIM:614328 ; - oboInOwl:hasDbXref UMLS:C1412186 ; oboInOwl:hasExactSynonym "ADAM17", "a disintegrin and metalloproteinase domain 17", "tumor necrosis factor-alpha converting enzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6868 ; - skos:exactMatch HGNC_symbol:ADAM17 ; + skos:exactMatch UMLS:C1412186, + HGNC:195, + HGNC_symbol:ADAM17 ; biolink:category biolink:Gene . OMIM:603640 a owl:Class ; rdfs:label "ADAM19" ; IAO:0000142 PMID:9461614, PMID:9806848 ; - oboInOwl:hasDbXref UMLS:C1412188 ; oboInOwl:hasExactSynonym "ADAM19", "a disintegrin and metalloproteinase domain 19", "meltrin-beta, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8728 ; - skos:exactMatch HGNC_symbol:ADAM19 ; + skos:exactMatch UMLS:C1412188, + HGNC:197, + HGNC_symbol:ADAM19 ; biolink:category biolink:Gene . OMIM:603641 a owl:Class ; rdfs:label "neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia" ; IAO:0000142 PMID:10096593 ; - oboInOwl:hasDbXref UMLS:C1863649 ; - oboInOwl:hasExactSynonym "neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia" . + oboInOwl:hasExactSynonym "neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia" ; + skos:exactMatch UMLS:C1863649 . OMIM:603642 a owl:Class ; rdfs:label "atrial septal defect, secundum, with various cardiac and noncardiac defects" ; IAO:0000142 PMID:10096596 ; - oboInOwl:hasDbXref UMLS:C1863648 ; - oboInOwl:hasExactSynonym "atrial septal defect, secundum, with various cardiac and noncardiac defects" . + oboInOwl:hasExactSynonym "atrial septal defect, secundum, with various cardiac and noncardiac defects" ; + skos:exactMatch UMLS:C1863648 . OMIM:603643 a owl:Class ; rdfs:label "situs inversus totalis with cystic dysplasia of kidneys and pancreas" ; IAO:0000142 PMID:10678653, PMID:9934983 ; - oboInOwl:hasDbXref UMLS:C1863647 ; - oboInOwl:hasExactSynonym "situs inversus totalis with cystic dysplasia of kidneys and pancreas" . + oboInOwl:hasExactSynonym "situs inversus totalis with cystic dysplasia of kidneys and pancreas" ; + skos:exactMatch UMLS:C1863647 . OMIM:603644 a owl:Class ; rdfs:label "SCO1" ; @@ -176837,8 +182398,6 @@ OMIM:603644 a owl:Class ; PMID:9878253 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:619048 ; - oboInOwl:hasDbXref UMLS:C1419872, - UMLS:C5436683 ; oboInOwl:hasExactSynonym "SCO1", "cytochrome oxidase-deficient 1, s. cerevisiae, homolog of", "sco cytochrome c oxidase assembly protein 1", @@ -176847,7 +182406,10 @@ OMIM:603644 a owl:Class ; "synthesis of cytochrome c oxidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6341 ; - skos:exactMatch HGNC_symbol:SCO1 ; + skos:exactMatch UMLS:C1419872, + UMLS:C5436683, + HGNC:10603, + HGNC_symbol:SCO1 ; biolink:category biolink:Gene . OMIM:603645 a owl:Class ; @@ -176857,8 +182419,6 @@ OMIM:603645 a owl:Class ; PMID:9878253 ; RO:0002525 CHR:9606chr4q31.3 ; RO:0003303 OMIM:618838 ; - oboInOwl:hasDbXref UMLS:C1418468, - UMLS:C5394236 ; oboInOwl:hasExactSynonym "GATB", "glutamyl-trna amidotransferase, subunit B", "glutamyl-trna-gln amidotransferase, subunit b, mitochondrial", @@ -176866,7 +182426,10 @@ OMIM:603645 a owl:Class ; "pet112-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5188 ; - skos:exactMatch HGNC_symbol:GATB ; + skos:exactMatch UMLS:C1418468, + UMLS:C5394236, + HGNC:8849, + HGNC_symbol:GATB ; biolink:category biolink:Gene . OMIM:603646 a owl:Class ; @@ -176879,14 +182442,15 @@ OMIM:603646 a owl:Class ; PMID:9878253 ; RO:0002525 CHR:9606chr10q24.2 ; RO:0003303 OMIM:615119 ; - oboInOwl:hasDbXref UMLS:C1413632, - UMLS:C3554534 ; oboInOwl:hasExactSynonym "COX15", "cox15, s. cerevisiae, homolog of", "cytochrome c oxidase assembly factor cox15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1355 ; - skos:exactMatch HGNC_symbol:COX15 ; + skos:exactMatch UMLS:C1413632, + UMLS:C3554534, + HGNC:2263, + HGNC_symbol:COX15 ; biolink:category biolink:Gene . OMIM:603647 a owl:Class ; @@ -176906,30 +182470,32 @@ OMIM:603647 a owl:Class ; PMID:9878253 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:124000 ; - oboInOwl:hasDbXref UMLS:C0266006, - UMLS:C1412777, - UMLS:C1864002, - UMLS:C3541471, - UMLS:C4016851 ; oboInOwl:hasExactSynonym "BCS1L", "bcs1 homolog, ubiquinol-cytochrome c reductase complex chaperone", "bcs1, s. cerevisiae, homolog-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:617 ; - skos:exactMatch HGNC_symbol:BCS1L ; + skos:exactMatch UMLS:C0266006, + UMLS:C1412777, + UMLS:C1864002, + UMLS:C3541471, + UMLS:C4016851, + HGNC:1020, + HGNC_symbol:BCS1L ; biolink:category biolink:Gene . OMIM:603648 a owl:Class ; rdfs:label "COX11" ; IAO:0000142 PMID:9878253 ; - oboInOwl:hasDbXref UMLS:C1413630 ; oboInOwl:hasExactSynonym "COX11", "cox11, s. cerevisiae, homolog of", "cytochrome c oxidase assembly factor cox11", "cytochrome c oxidase copper chaperone cox11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1353 ; - skos:exactMatch HGNC_symbol:COX11 ; + skos:exactMatch UMLS:C1413630, + HGNC:2261, + HGNC_symbol:COX11 ; biolink:category biolink:Gene . OMIM:603650 a owl:Class ; @@ -176943,12 +182509,13 @@ OMIM:603650 a owl:Class ; PMID:28650483 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:615983 ; - oboInOwl:hasDbXref UMLS:C1412750 ; oboInOwl:hasExactSynonym "BBS5", "bbs5 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129880 ; - skos:exactMatch HGNC_symbol:BBS5 ; + skos:exactMatch UMLS:C1412750, + HGNC:970, + HGNC_symbol:BBS5 ; biolink:category biolink:Gene . OMIM:603651 a owl:Class ; @@ -176957,7 +182524,6 @@ OMIM:603651 a owl:Class ; PMID:11713258, PMID:15336983, PMID:8646775 ; - oboInOwl:hasDbXref UMLS:C1421171 ; oboInOwl:hasExactSynonym "TRPC4", "transient receptor potential cation channel, subfamily c, member 4", "transient receptor potential channel 4", @@ -176966,7 +182532,9 @@ OMIM:603651 a owl:Class ; "trpc4-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7223 ; - skos:exactMatch HGNC_symbol:TRPC4 ; + skos:exactMatch UMLS:C1421171, + HGNC:12336, + HGNC_symbol:TRPC4 ; biolink:category biolink:Gene . OMIM:603652 a owl:Class ; @@ -176983,13 +182551,14 @@ OMIM:603652 a owl:Class ; PMID:9930701 ; RO:0002525 CHR:9606chr11q22.1 ; RO:0003303 OMIM:603965 ; - oboInOwl:hasDbXref UMLS:C1421173 ; oboInOwl:hasExactSynonym "TRPC6", "transient receptor potential cation channel, subfamily c, member 6", "transient receptor potential, drosophila, homolog of, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7225 ; - skos:exactMatch HGNC_symbol:TRPC6 ; + skos:exactMatch UMLS:C1421173, + HGNC:12338, + HGNC_symbol:TRPC6 ; biolink:category biolink:Gene . OMIM:603653 a owl:Class ; @@ -177000,13 +182569,14 @@ OMIM:603654 a owl:Class ; IAO:0000142 PMID:21792931, PMID:7829520, PMID:9786900 ; - oboInOwl:hasDbXref UMLS:C1420108 ; oboInOwl:hasExactSynonym "SLC16A7", "monocarboxylate transporter 2", "solute carrier family 16 (monocarboxylic acid transporter), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9194 ; - skos:exactMatch HGNC_symbol:SLC16A7 ; + skos:exactMatch UMLS:C1420108, + HGNC:10928, + HGNC_symbol:SLC16A7 ; biolink:category biolink:Gene . OMIM:603655 a owl:Class ; @@ -177017,21 +182587,22 @@ OMIM:603656 a owl:Class ; rdfs:label "exostosis, dupuytren subungual" ; IAO:0000142 PMID:422611, PMID:9885985 ; - oboInOwl:hasDbXref UMLS:C1863622 ; - oboInOwl:hasExactSynonym "exostosis, dupuytren subungual" . + oboInOwl:hasExactSynonym "exostosis, dupuytren subungual" ; + skos:exactMatch UMLS:C1863622 . OMIM:603657 a owl:Class ; rdfs:label "VAMP3" ; IAO:0000142 PMID:11462174, PMID:16282525, PMID:9885218 ; - oboInOwl:hasDbXref UMLS:C1421420 ; oboInOwl:hasExactSynonym "VAMP3", "cellubrevin", "vesicle-associated membrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9341 ; - skos:exactMatch HGNC_symbol:VAMP3 ; + skos:exactMatch UMLS:C1421420, + HGNC:12644, + HGNC_symbol:VAMP3 ; biolink:category biolink:Gene . OMIM:603658 a owl:Class ; @@ -177045,23 +182616,25 @@ OMIM:603658 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr2p25.3 ; RO:0003303 OMIM:612563 ; - oboInOwl:hasDbXref UMLS:C1419751 ; oboInOwl:hasExactSynonym "RPS7", "ribosomal protein s7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6201 ; - skos:exactMatch HGNC_symbol:RPS7 ; + skos:exactMatch UMLS:C1419751, + HGNC:10440, + HGNC_symbol:RPS7 ; biolink:category biolink:Gene . OMIM:603659 a owl:Class ; rdfs:label "GLP2R" ; IAO:0000142 PMID:9990065 ; - oboInOwl:hasDbXref UMLS:C1415106 ; oboInOwl:hasExactSynonym "GLP2R", "glucagon-like peptide 2 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9340 ; - skos:exactMatch HGNC_symbol:GLP2R ; + skos:exactMatch UMLS:C1415106, + HGNC:4325, + HGNC_symbol:GLP2R ; biolink:category biolink:Gene . OMIM:603660 a owl:Class ; @@ -177069,24 +182642,26 @@ OMIM:603660 a owl:Class ; IAO:0000142 PMID:1712897, PMID:1861993, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419701 ; oboInOwl:hasExactSynonym "RPS12", "ribosomal protein s12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6206 ; - skos:exactMatch HGNC_symbol:RPS12 ; + skos:exactMatch UMLS:C1419701, + HGNC:10385, + HGNC_symbol:RPS12 ; biolink:category biolink:Gene . OMIM:603661 a owl:Class ; rdfs:label "RPL17" ; IAO:0000142 PMID:2402465, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419633 ; oboInOwl:hasExactSynonym "RPL17", "ribosomal protein l17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6139 ; - skos:exactMatch HGNC_symbol:RPL17 ; + skos:exactMatch UMLS:C1419633, + HGNC:10307, + HGNC_symbol:RPL17 ; biolink:category biolink:Gene . OMIM:603662 a owl:Class ; @@ -177095,12 +182670,13 @@ OMIM:603662 a owl:Class ; PMID:1861993, PMID:1874450, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419640 ; oboInOwl:hasExactSynonym "RPL23", "ribosomal protein l23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9349 ; - skos:exactMatch HGNC_symbol:RPL23 ; + skos:exactMatch UMLS:C1419640, + HGNC:10316, + HGNC_symbol:RPL23 ; biolink:category biolink:Gene . OMIM:603665 a owl:Class ; @@ -177109,13 +182685,14 @@ OMIM:603665 a owl:Class ; PMID:10947959, PMID:9723890, PMID:9753616 ; - oboInOwl:hasDbXref UMLS:C1335878 ; oboInOwl:hasExactSynonym "STC2", "stanniocalcin 2", "stanniocalcin-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8614 ; - skos:exactMatch HGNC_symbol:STC2 ; + skos:exactMatch UMLS:C1335878, + HGNC:11374, + HGNC_symbol:STC2 ; biolink:category biolink:Gene . OMIM:603666 a owl:Class ; @@ -177127,13 +182704,14 @@ OMIM:603666 a owl:Class ; PMID:9587053 ; RO:0002525 CHR:9606chr20q13.32 ; RO:0003303 OMIM:603233 ; - oboInOwl:hasDbXref UMLS:C1420496 ; oboInOwl:hasExactSynonym "STX16", "syn16", "syntaxin 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8675 ; - skos:exactMatch HGNC_symbol:STX16 ; + skos:exactMatch UMLS:C1420496, + HGNC:11431, + HGNC_symbol:STX16 ; biolink:category biolink:Gene . OMIM:603667 a owl:Class ; @@ -177149,22 +182727,22 @@ OMIM:603667 a owl:Class ; PMID:9722566 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:612949 ; - oboInOwl:hasDbXref UMLS:C1420153, - UMLS:C2751855 ; oboInOwl:hasExactSynonym "SLC25A12", "aralar", "aspartate-glutamate carrier isoform 1, mitochondrial", "solute carrier family 25 (mitochondrial carrier, aralar), member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8604 ; - skos:exactMatch HGNC_symbol:SLC25A12 ; + skos:exactMatch UMLS:C1420153, + UMLS:C2751855, + HGNC:10982, + HGNC_symbol:SLC25A12 ; biolink:category biolink:Gene . OMIM:603668 a owl:Class ; rdfs:label "SCAF11" ; IAO:0000142 PMID:9224939, PMID:9447963 ; - oboInOwl:hasDbXref UMLS:C1419993 ; oboInOwl:hasExactSynonym "SCAF11", "ctd-associated sr protein 11", "sc35-interacting protein 1", @@ -177175,14 +182753,16 @@ OMIM:603668 a owl:Class ; "sr-related protein, 129-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9169 ; - skos:exactMatch HGNC_symbol:SCAF11 ; + skos:exactMatch UMLS:C1419993, + HGNC:10784, + HGNC_symbol:SCAF11 ; biolink:category biolink:Gene . OMIM:603669 a owl:Class ; rdfs:label "eccrine syringofibroadenomatosis with eyelid abnormalities" ; IAO:0000142 PMID:9703152 ; - oboInOwl:hasDbXref UMLS:C1863618 ; - oboInOwl:hasExactSynonym "eccrine syringofibroadenomatosis with eyelid abnormalities" . + oboInOwl:hasExactSynonym "eccrine syringofibroadenomatosis with eyelid abnormalities" ; + skos:exactMatch UMLS:C1863618 . OMIM:603670 a owl:Class ; rdfs:label "blue nevi, familial multiple" ; @@ -177190,8 +182770,8 @@ OMIM:603670 a owl:Class ; PMID:19078957, PMID:21083380, PMID:9703144 ; - oboInOwl:hasDbXref UMLS:C1863617 ; - oboInOwl:hasExactSynonym "blue nevi, familial multiple" . + oboInOwl:hasExactSynonym "blue nevi, familial multiple" ; + skos:exactMatch UMLS:C1863617 . OMIM:603671 a owl:Class ; rdfs:label "acromelic frontonasal dysostosis" ; @@ -177208,9 +182788,9 @@ OMIM:603671 a owl:Class ; PMID:5571207, PMID:6627724, PMID:8357003 ; - oboInOwl:hasDbXref UMLS:C1863616 ; oboInOwl:hasExactSynonym "AFND", "acromelic frontonasal dysostosis" ; + skos:exactMatch UMLS:C1863616 ; biolink:category biolink:Disease . OMIM:603672 a owl:Class ; @@ -177222,7 +182802,6 @@ OMIM:603672 a owl:Class ; PMID:9447981, PMID:9787195, PMID:9790752 ; - oboInOwl:hasDbXref UMLS:C1413148 ; oboInOwl:hasExactSynonym "CBFA2T2", "core-binding factor, runt domain, alpha subunit 2, translocated to, 2", "eto homolog on chromosome 20", @@ -177230,7 +182809,9 @@ OMIM:603672 a owl:Class ; "zinc finger mynd domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9139 ; - skos:exactMatch HGNC_symbol:CBFA2T2 ; + skos:exactMatch UMLS:C1413148, + HGNC:1536, + HGNC_symbol:CBFA2T2 ; biolink:category biolink:Gene . OMIM:603673 a owl:Class ; @@ -177242,13 +182823,14 @@ OMIM:603673 a owl:Class ; PMID:9931336 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:155255 ; - oboInOwl:hasDbXref UMLS:C1335270 ; oboInOwl:hasExactSynonym "PTCH2", "patched 2", "patched, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8643 ; - skos:exactMatch HGNC_symbol:PTCH2 ; + skos:exactMatch UMLS:C1335270, + HGNC:9586, + HGNC_symbol:PTCH2 ; biolink:category biolink:Gene . OMIM:603674 a owl:Class ; @@ -177257,24 +182839,26 @@ OMIM:603674 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr16p12.3 ; RO:0003303 OMIM:618313 ; - oboInOwl:hasDbXref UMLS:C1419705 ; oboInOwl:hasExactSynonym "RPS15A", "ribosomal protein s15a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6210 ; - skos:exactMatch HGNC_symbol:RPS15A ; + skos:exactMatch UMLS:C1419705, + HGNC:10389, + HGNC_symbol:RPS15A ; biolink:category biolink:Gene . OMIM:603675 a owl:Class ; rdfs:label "RPS16" ; IAO:0000142 PMID:2016298, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419712 ; oboInOwl:hasExactSynonym "RPS16", "ribosomal protein s16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6217 ; - skos:exactMatch HGNC_symbol:RPS16 ; + skos:exactMatch UMLS:C1419712, + HGNC:10396, + HGNC_symbol:RPS16 ; biolink:category biolink:Gene . OMIM:603676 a owl:Class ; @@ -177285,11 +182869,11 @@ OMIM:603677 a owl:Class ; rdfs:label "MYT2" ; IAO:0000142 PMID:7735128, PMID:9790734 ; - oboInOwl:hasDbXref UMLS:C1417586 ; oboInOwl:hasExactSynonym "MYT2", "cerebrin 50", "myelin transcription factor 2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1417586 ; biolink:category biolink:Gene . OMIM:603679 a owl:Class ; @@ -177308,14 +182892,15 @@ OMIM:603679 a owl:Class ; PMID:25548215, PMID:26503038, PMID:8902611 ; - oboInOwl:hasDbXref UMLS:C1421290 ; oboInOwl:hasExactSynonym "UBE2N", "bendless, drosophila, homolog of", "ubiquitin-conjugating enzyme 13, s. cerevisiae, homolog of", "ubiquitin-conjugating enzyme e2n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7334 ; - skos:exactMatch HGNC_symbol:UBE2N ; + skos:exactMatch UMLS:C1421290, + HGNC:12492, + HGNC_symbol:UBE2N ; biolink:category biolink:Gene . OMIM:603680 a owl:Class ; @@ -177349,14 +182934,15 @@ OMIM:603680 a owl:Class ; PMID:19680539 ; RO:0002525 CHR:9606chr13q21.33 ; RO:0003303 OMIM:168600 ; - oboInOwl:hasDbXref UMLS:C1825850 ; oboInOwl:hasExactSynonym "ATXN8OS", "ataxin 8 opposite strand", "klhl1as", "sca8 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6315 ; - skos:exactMatch HGNC_symbol:ATXN8OS ; + skos:exactMatch UMLS:C1825850, + HGNC:10561, + HGNC_symbol:ATXN8OS ; biolink:category biolink:Gene . OMIM:603681 a owl:Class ; @@ -177381,12 +182967,13 @@ OMIM:603681 a owl:Class ; PMID:9657592 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:601071 ; - oboInOwl:hasDbXref UMLS:C1418195 ; oboInOwl:hasExactSynonym "OTOF", "otoferlin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9381 ; - skos:exactMatch HGNC_symbol:OTOF ; + skos:exactMatch UMLS:C1418195, + HGNC:8515, + HGNC_symbol:OTOF ; biolink:category biolink:Gene . OMIM:603682 a owl:Class ; @@ -177395,12 +182982,13 @@ OMIM:603682 a owl:Class ; PMID:24941021, PMID:8479924, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419719 ; oboInOwl:hasExactSynonym "RPS20", "ribosomal protein s20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6224 ; - skos:exactMatch HGNC_symbol:RPS20 ; + skos:exactMatch UMLS:C1419719, + HGNC:10405, + HGNC_symbol:RPS20 ; biolink:category biolink:Gene . OMIM:603683 a owl:Class ; @@ -177410,12 +182998,13 @@ OMIM:603683 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr5q14.2 ; RO:0003303 OMIM:617412 ; - oboInOwl:hasDbXref UMLS:C1419724 ; oboInOwl:hasExactSynonym "RPS23", "ribosomal protein s23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6228 ; - skos:exactMatch HGNC_symbol:RPS23 ; + skos:exactMatch UMLS:C1419724, + HGNC:10410, + HGNC_symbol:RPS23 ; biolink:category biolink:Gene . OMIM:603684 a owl:Class ; @@ -177427,14 +183016,15 @@ OMIM:603684 a owl:Class ; PMID:12884003, PMID:14667806, PMID:15304490 ; - oboInOwl:hasDbXref UMLS:C1416870 ; oboInOwl:hasExactSynonym "LIPG", "el", "endothelial cell-derived lipase", "lipase, endothelial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9388 ; - skos:exactMatch HGNC_symbol:LIPG ; + skos:exactMatch UMLS:C1416870, + HGNC:6623, + HGNC_symbol:LIPG ; biolink:category biolink:Gene . OMIM:603685 a owl:Class ; @@ -177445,12 +183035,13 @@ OMIM:603685 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:606164 ; - oboInOwl:hasDbXref UMLS:C1419731 ; oboInOwl:hasExactSynonym "RPS28", "ribosomal protein s28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6234 ; - skos:exactMatch HGNC_symbol:RPS28 ; + skos:exactMatch UMLS:C1419731, + HGNC:10418, + HGNC_symbol:RPS28 ; biolink:category biolink:Gene . OMIM:603686 a owl:Class ; @@ -177459,12 +183050,13 @@ OMIM:603686 a owl:Class ; PMID:8415001, PMID:8597601, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419689 ; oboInOwl:hasExactSynonym "RPL9", "ribosomal protein l9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6133 ; - skos:exactMatch HGNC_symbol:RPL9 ; + skos:exactMatch UMLS:C1419689, + HGNC:10369, + HGNC_symbol:RPL9 ; biolink:category biolink:Gene . OMIM:603687 a owl:Class ; @@ -177483,13 +183075,14 @@ OMIM:603687 a owl:Class ; PMID:8663198, PMID:8797830, PMID:9819382 ; - oboInOwl:hasDbXref UMLS:C1332076 ; oboInOwl:hasExactSynonym "ALDH1A2", "aldehyde dehydrogenase 1 family, member a2", "retinaldehyde dehydrogenase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8854 ; - skos:exactMatch HGNC_symbol:ALDH1A2 ; + skos:exactMatch UMLS:C1332076, + HGNC:15472, + HGNC_symbol:ALDH1A2 ; biolink:category biolink:Gene . OMIM:603690 a owl:Class ; @@ -177503,14 +183096,15 @@ OMIM:603690 a owl:Class ; PMID:9925934 ; RO:0002525 CHR:9606chr3q25.31 ; RO:0003303 OMIM:612539 ; - oboInOwl:hasDbXref UMLS:C1412113 ; oboInOwl:hasExactSynonym "SLC33A1", "acetyl-coa transporter", "at1", "solute carrier family 33 (acetyl-coa transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9197 ; - skos:exactMatch HGNC_symbol:SLC33A1 ; + skos:exactMatch UMLS:C1412113, + HGNC:95, + HGNC_symbol:SLC33A1 ; biolink:category biolink:Gene . OMIM:603691 a owl:Class ; @@ -177520,25 +183114,27 @@ OMIM:603691 a owl:Class ; PMID:9685625, PMID:9832121, PMID:9880084 ; - oboInOwl:hasDbXref UMLS:C1333658 ; oboInOwl:hasExactSynonym "GALR2", "galanin receptor 2", "galnr2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8811 ; - skos:exactMatch HGNC_symbol:GALR2 ; + skos:exactMatch UMLS:C1333658, + HGNC:4133, + HGNC_symbol:GALR2 ; biolink:category biolink:Gene . OMIM:603692 a owl:Class ; rdfs:label "GALR3" ; IAO:0000142 PMID:9722565, PMID:9832121 ; - oboInOwl:hasDbXref UMLS:C1414961 ; oboInOwl:hasExactSynonym "GALR3", "galanin receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8484 ; - skos:exactMatch HGNC_symbol:GALR3 ; + skos:exactMatch UMLS:C1414961, + HGNC:4134, + HGNC_symbol:GALR3 ; biolink:category biolink:Gene . OMIM:603693 a owl:Class ; @@ -177562,11 +183158,6 @@ OMIM:603693 a owl:Class ; PMID:9927675 ; RO:0002525 CHR:9606chr8q23.1 ; RO:0003303 OMIM:187500 ; - oboInOwl:hasDbXref UMLS:C0013069, - UMLS:C0039685, - UMLS:C1424490, - UMLS:C1857781, - UMLS:C4015129 ; oboInOwl:hasExactSynonym "ZFPM2", "fog2/aml1 fusion gene", "friend of gata2", @@ -177574,7 +183165,13 @@ OMIM:603693 a owl:Class ; "zinc finger protein, multitype 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23414 ; - skos:exactMatch HGNC_symbol:ZFPM2 ; + skos:exactMatch UMLS:C0013069, + UMLS:C0039685, + UMLS:C1424490, + UMLS:C1857781, + UMLS:C4015129, + HGNC:16700, + HGNC_symbol:ZFPM2 ; biolink:category biolink:Gene . OMIM:603695 a owl:Class ; @@ -177582,14 +183179,15 @@ OMIM:603695 a owl:Class ; IAO:0000142 PMID:10449911, PMID:1980215, PMID:9889008 ; - oboInOwl:hasDbXref UMLS:C1415361 ; oboInOwl:hasExactSynonym "GUCY1B2", "gcs-beta-2", "guanylate cyclase 1, soluble, beta-2", "guanylate cyclase, soluble, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2974 ; - skos:exactMatch HGNC_symbol:GUCY1B2 ; + skos:exactMatch UMLS:C1415361, + HGNC:4686, + HGNC_symbol:GUCY1B2 ; biolink:category biolink:Gene . OMIM:603696 a owl:Class ; @@ -177602,7 +183200,6 @@ OMIM:603696 a owl:Class ; PMID:23788729, PMID:23792561, PMID:9889007 ; - oboInOwl:hasDbXref UMLS:C1539747 ; oboInOwl:hasExactSynonym "SEPT4", "apoptosis-related protein 1n the tgf-beta signaling pathway", "bradeion", @@ -177611,7 +183208,9 @@ OMIM:603696 a owl:Class ; "septin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5414 ; - skos:exactMatch HGNC_symbol:SEPTIN4 ; + skos:exactMatch UMLS:C1539747, + HGNC:9165, + HGNC_symbol:SEPTIN4 ; biolink:category biolink:Gene . OMIM:603697 a owl:Class ; @@ -177621,13 +183220,14 @@ OMIM:603697 a owl:Class ; PMID:30138423, PMID:30197642, PMID:9177185 ; - oboInOwl:hasDbXref UMLS:C1412360 ; oboInOwl:hasExactSynonym "15-lipoxygenase, reticulocyte arachidonate, second iia", "ALOX15B", "arachidonate 15-lipoxygenase, second iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:247 ; - skos:exactMatch HGNC_symbol:ALOX15B ; + skos:exactMatch UMLS:C1412360, + HGNC:434, + HGNC_symbol:ALOX15B ; biolink:category biolink:Gene . OMIM:603698 a owl:Class ; @@ -177636,13 +183236,14 @@ OMIM:603698 a owl:Class ; PMID:9828135 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:606483 ; - oboInOwl:hasDbXref UMLS:C1415002 ; oboInOwl:hasExactSynonym "GBF1", "golgi-specific brefeldin-a resistance factor 1", "kiaa0248" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8729 ; - skos:exactMatch HGNC_symbol:GBF1 ; + skos:exactMatch UMLS:C1415002, + HGNC:4181, + HGNC_symbol:GBF1 ; biolink:category biolink:Gene . OMIM:603699 a owl:Class ; @@ -177656,12 +183257,13 @@ OMIM:603699 a owl:Class ; PMID:20657579, PMID:9331343, PMID:9757009 ; - oboInOwl:hasDbXref UMLS:C1421512 ; oboInOwl:hasExactSynonym "WNT11", "wingless-type mmtv integration site family, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7481 ; - skos:exactMatch HGNC_symbol:WNT11 ; + skos:exactMatch UMLS:C1421512, + HGNC:12776, + HGNC_symbol:WNT11 ; biolink:category biolink:Gene . OMIM:603700 a owl:Class ; @@ -177673,14 +183275,15 @@ OMIM:603700 a owl:Class ; PMID:2300173 ; RO:0002525 CHR:9606chr13q12.3 ; RO:0003303 OMIM:601367 ; - oboInOwl:hasDbXref UMLS:C1412362 ; oboInOwl:hasExactSynonym "5-lipoxygenase-activating protein", "ALOX5AP", "arachidonate 5-lipoxygenase-activating protein", "five-lipoxygenase-activating protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:241 ; - skos:exactMatch HGNC_symbol:ALOX5AP ; + skos:exactMatch UMLS:C1412362, + HGNC:436, + HGNC_symbol:ALOX5AP ; biolink:category biolink:Gene . OMIM:603701 a owl:Class ; @@ -177695,12 +183298,13 @@ OMIM:603701 a owl:Class ; PMID:9602156 ; RO:0002525 CHR:9606chr12q13.2 ; RO:0003303 OMIM:613309 ; - oboInOwl:hasDbXref UMLS:C1419728 ; oboInOwl:hasExactSynonym "RPS26", "ribosomal protein s26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6231 ; - skos:exactMatch HGNC_symbol:RPS26 ; + skos:exactMatch UMLS:C1419728, + HGNC:10414, + HGNC_symbol:RPS26 ; biolink:category biolink:Gene . OMIM:603702 a owl:Class ; @@ -177712,13 +183316,14 @@ OMIM:603702 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:617409 ; - oboInOwl:hasDbXref UMLS:C1335642 ; oboInOwl:hasExactSynonym "RPS27", "metallopanstimulin 1", "ribosomal protein s27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6232 ; - skos:exactMatch HGNC_symbol:RPS27 ; + skos:exactMatch UMLS:C1335642, + HGNC:10416, + HGNC_symbol:RPS27 ; biolink:category biolink:Gene . OMIM:603703 a owl:Class ; @@ -177726,12 +183331,13 @@ OMIM:603703 a owl:Class ; IAO:0000142 PMID:8457378, PMID:8479925, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419685 ; oboInOwl:hasExactSynonym "RPL6", "ribosomal protein l6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6128 ; - skos:exactMatch HGNC_symbol:RPL6 ; + skos:exactMatch UMLS:C1419685, + HGNC:10362, + HGNC_symbol:RPL6 ; biolink:category biolink:Gene . OMIM:603704 a owl:Class ; @@ -177741,12 +183347,13 @@ OMIM:603704 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:614900 ; - oboInOwl:hasDbXref UMLS:C1419651 ; oboInOwl:hasExactSynonym "RPL26", "ribosomal protein l26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6154 ; - skos:exactMatch HGNC_symbol:RPL26 ; + skos:exactMatch UMLS:C1419651, + HGNC:10327, + HGNC_symbol:RPL26 ; biolink:category biolink:Gene . OMIM:603705 a owl:Class ; @@ -177754,26 +183361,28 @@ OMIM:603705 a owl:Class ; IAO:0000142 PMID:10051567, PMID:10343124, PMID:11856872 ; - oboInOwl:hasDbXref UMLS:C1412398 ; oboInOwl:hasExactSynonym "ANGPT4", "ang4", "angiopoietin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51378 ; - skos:exactMatch HGNC_symbol:ANGPT4 ; + skos:exactMatch UMLS:C1412398, + HGNC:487, + HGNC_symbol:ANGPT4 ; biolink:category biolink:Gene . OMIM:603706 a owl:Class ; rdfs:label "SEMA4F" ; IAO:0000142 PMID:10051670 ; - oboInOwl:hasDbXref UMLS:C1419952 ; oboInOwl:hasExactSynonym "SEMA4F", "semaphorin 4f", "semaphorin m", "semaphorin w" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10505 ; - skos:exactMatch HGNC_symbol:SEMA4F ; + skos:exactMatch UMLS:C1419952, + HGNC:10734, + HGNC_symbol:SEMA4F ; biolink:category biolink:Gene . OMIM:603707 a owl:Class ; @@ -177787,14 +183396,15 @@ OMIM:603707 a owl:Class ; PMID:9921896 ; RO:0002525 CHR:9606chr6p21.2 ; RO:0003303 OMIM:252150 ; - oboInOwl:hasDbXref UMLS:C1417224 ; oboInOwl:hasExactSynonym "MOCS1", "mocs1a", "mocs1b", "molybdenum cofactor synthesis gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4337 ; - skos:exactMatch HGNC_symbol:MOCS1 ; + skos:exactMatch UMLS:C1417224, + HGNC:7190, + HGNC_symbol:MOCS1 ; biolink:category biolink:Gene . OMIM:603708 a owl:Class ; @@ -177811,14 +183421,15 @@ OMIM:603708 a owl:Class ; PMID:9889283 ; RO:0002525 CHR:9606chr5q11.2 ; RO:0003303 OMIM:252160 ; - oboInOwl:hasDbXref UMLS:C1417227 ; oboInOwl:hasExactSynonym "MOCS2", "moco1", "molybdenum cofactor synthesis gene 2", "molybdopterin synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4338 ; - skos:exactMatch HGNC_symbol:MOCS2 ; + skos:exactMatch UMLS:C1417227, + HGNC:7193, + HGNC_symbol:MOCS2 ; biolink:category biolink:Gene . OMIM:603709 a owl:Class ; @@ -177831,27 +183442,29 @@ OMIM:603709 a owl:Class ; PMID:9693107 ; RO:0002525 CHR:9606chr7q21.12 ; RO:0003303 OMIM:617933 ; - oboInOwl:hasDbXref UMLS:C1412192, - UMLS:C4693688 ; oboInOwl:hasExactSynonym "ADAM22", "a disintegrin and metalloproteinase domain 22", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53616 ; - skos:exactMatch HGNC_symbol:ADAM22 ; + skos:exactMatch UMLS:C1412192, + UMLS:C4693688, + HGNC:201, + HGNC_symbol:ADAM22 ; biolink:category biolink:Gene . OMIM:603710 a owl:Class ; rdfs:label "ADAM23" ; IAO:0000142 PMID:10524237, PMID:9693107 ; - oboInOwl:hasDbXref UMLS:C1412193 ; oboInOwl:hasExactSynonym "ADAM23", "a disintegrin and metalloproteinase domain 23", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8745 ; - skos:exactMatch HGNC_symbol:ADAM23 ; + skos:exactMatch UMLS:C1412193, + HGNC:202, + HGNC_symbol:ADAM23 ; biolink:category biolink:Gene . OMIM:603711 a owl:Class ; @@ -177871,37 +183484,40 @@ OMIM:603711 a owl:Class ; PMID:9802883 ; RO:0002525 CHR:9606chr8q12.3 ; RO:0003303 OMIM:270800 ; - oboInOwl:hasDbXref UMLS:C1413894, - UMLS:C1849115, - UMLS:C3151147 ; oboInOwl:hasExactSynonym "CYP7B1", "cytochrome p450, family 7, subfamily b, polypeptide 1", "oxysterol 7-alpha-hydroxylase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9420 ; - skos:exactMatch HGNC_symbol:CYP7B1 ; + skos:exactMatch UMLS:C1413894, + UMLS:C1849115, + UMLS:C3151147, + HGNC:2652, + HGNC_symbol:CYP7B1 ; biolink:category biolink:Gene . OMIM:603712 a owl:Class ; rdfs:label "ADAM20" ; IAO:0000142 PMID:9469942 ; - oboInOwl:hasDbXref UMLS:C1412190 ; oboInOwl:hasExactSynonym "ADAM20", "a disintegrin and metalloproteinase domain 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8748 ; - skos:exactMatch HGNC_symbol:ADAM20 ; + skos:exactMatch UMLS:C1412190, + HGNC:199, + HGNC_symbol:ADAM20 ; biolink:category biolink:Gene . OMIM:603713 a owl:Class ; rdfs:label "ADAM21" ; IAO:0000142 PMID:9469942 ; - oboInOwl:hasDbXref UMLS:C1412191 ; oboInOwl:hasExactSynonym "ADAM21", "a disintegrin and metalloproteinase domain 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8747 ; - skos:exactMatch HGNC_symbol:ADAM21 ; + skos:exactMatch UMLS:C1412191, + HGNC:200, + HGNC_symbol:ADAM21 ; biolink:category biolink:Gene . OMIM:603714 a owl:Class ; @@ -177926,13 +183542,14 @@ OMIM:603714 a owl:Class ; PMID:9889003 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:269160 ; - oboInOwl:hasDbXref UMLS:C1420074 ; oboInOwl:hasExactSynonym "SIX3", "sine oculis homeobox, drosophila, homolog of, 3", "six homeobox 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6496 ; - skos:exactMatch HGNC_symbol:SIX3 ; + skos:exactMatch UMLS:C1420074, + HGNC:10889, + HGNC_symbol:SIX3 ; biolink:category biolink:Gene . OMIM:603715 a owl:Class ; @@ -177943,14 +183560,15 @@ OMIM:603715 a owl:Class ; PMID:10910362, PMID:11071865, PMID:8962155 ; - oboInOwl:hasDbXref UMLS:C1415016 ; oboInOwl:hasExactSynonym "GCM1", "gcma", "glial cells missing transcription factor 1", "glial cells missing, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8521 ; - skos:exactMatch HGNC_symbol:GCM1 ; + skos:exactMatch UMLS:C1415016, + HGNC:4197, + HGNC_symbol:GCM1 ; biolink:category biolink:Gene . OMIM:603716 a owl:Class ; @@ -177968,16 +183586,17 @@ OMIM:603716 a owl:Class ; PMID:9928992 ; RO:0002525 CHR:9606chr6p24.2 ; RO:0003303 OMIM:618883 ; - oboInOwl:hasDbXref UMLS:C1415017, - UMLS:C4479229, - UMLS:C5394383 ; oboInOwl:hasExactSynonym "GCM2", "gcmb", "glial cells missing transcription factor 2", "glial cells missing, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9247 ; - skos:exactMatch HGNC_symbol:GCM2 ; + skos:exactMatch UMLS:C1415017, + UMLS:C4479229, + UMLS:C5394383, + HGNC:4198, + HGNC_symbol:GCM2 ; biolink:category biolink:Gene . OMIM:603717 a owl:Class ; @@ -177986,7 +183605,6 @@ OMIM:603717 a owl:Class ; PMID:11675001, PMID:9305897, PMID:9653649 ; - oboInOwl:hasDbXref UMLS:C1412681 ; oboInOwl:hasExactSynonym "ATP6V0B", "atpase, h+ transporting, lysosomal, 21-kd, v0 subunit c-prime, prime", "atpase, h+ transporting, lysosomal, subunit f", @@ -177994,7 +183612,9 @@ OMIM:603717 a owl:Class ; "vma16, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:533 ; - skos:exactMatch HGNC_symbol:ATP6V0B ; + skos:exactMatch UMLS:C1412681, + HGNC:861, + HGNC_symbol:ATP6V0B ; biolink:category biolink:Gene . OMIM:603718 a owl:Class ; @@ -178016,13 +183636,14 @@ OMIM:603718 a owl:Class ; PMID:9931503 ; RO:0002525 CHR:9606chr3q28 ; RO:0003303 OMIM:607626 ; - oboInOwl:hasDbXref UMLS:C1413460 ; oboInOwl:hasExactSynonym "CLDN1", "claudin 1", "senescence-associated epithelial membrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9076 ; - skos:exactMatch HGNC_symbol:CLDN1 ; + skos:exactMatch UMLS:C1413460, + HGNC:2032, + HGNC_symbol:CLDN1 ; biolink:category biolink:Gene . OMIM:603719 a owl:Class ; @@ -178031,13 +183652,14 @@ OMIM:603719 a owl:Class ; PMID:10995385, PMID:23747338, PMID:9660858 ; - oboInOwl:hasDbXref UMLS:C1412855 ; oboInOwl:hasExactSynonym "BUB3", "bub3 mitotic checkpoint protein", "budding uninhibited by benzimidazoles 3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9184 ; - skos:exactMatch HGNC_symbol:BUB3 ; + skos:exactMatch UMLS:C1412855, + HGNC:1151, + HGNC_symbol:BUB3 ; biolink:category biolink:Gene . OMIM:603721 a owl:Class ; @@ -178049,13 +183671,14 @@ OMIM:603721 a owl:Class ; PMID:8672131, PMID:9605847, PMID:9693040 ; - oboInOwl:hasDbXref UMLS:C1421286 ; oboInOwl:hasExactSynonym "UBE2L3", "ubiquitin-conjugating enzyme e2l 3", "ubiquitin-conjugating enzyme ubch7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7332 ; - skos:exactMatch HGNC_symbol:UBE2L3 ; + skos:exactMatch UMLS:C1421286, + HGNC:12488, + HGNC_symbol:UBE2L3 ; biolink:category biolink:Gene . OMIM:603722 a owl:Class ; @@ -178082,8 +183705,6 @@ OMIM:603722 a owl:Class ; PMID:9751059 ; RO:0002525 CHR:9606chr9q31.3 ; RO:0003303 OMIM:155255 ; - oboInOwl:hasDbXref UMLS:C0013364, - UMLS:C1416379 ; oboInOwl:hasExactSynonym "ELP1", "elongator acetyltransferase complex, subunit 1", "elongator complex protein 1", @@ -178092,7 +183713,10 @@ OMIM:603722 a owl:Class ; "inhibitor of kappa light polypeptide gene enhancer 1n B cells, kinase complex-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8518 ; - skos:exactMatch HGNC_symbol:ELP1 ; + skos:exactMatch UMLS:C0013364, + UMLS:C1416379, + HGNC:5959, + HGNC_symbol:ELP1 ; biolink:category biolink:Gene . OMIM:603723 a owl:Class ; @@ -178115,12 +183739,13 @@ OMIM:603725 a owl:Class ; PMID:9514906 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:615270 ; - oboInOwl:hasDbXref UMLS:C1414601 ; oboInOwl:hasExactSynonym "FGF17", "fibroblast growth factor 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8822 ; - skos:exactMatch HGNC_symbol:FGF17 ; + skos:exactMatch UMLS:C1414601, + HGNC:3673, + HGNC_symbol:FGF17 ; biolink:category biolink:Gene . OMIM:603726 a owl:Class ; @@ -178136,12 +183761,13 @@ OMIM:603726 a owl:Class ; PMID:26595272, PMID:9660775, PMID:9742123 ; - oboInOwl:hasDbXref UMLS:C1414602 ; oboInOwl:hasExactSynonym "FGF18", "fibroblast growth factor 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8817 ; - skos:exactMatch HGNC_symbol:FGF18 ; + skos:exactMatch UMLS:C1414602, + HGNC:3674, + HGNC_symbol:FGF18 ; biolink:category biolink:Gene . OMIM:603727 a owl:Class ; @@ -178151,14 +183777,15 @@ OMIM:603727 a owl:Class ; PMID:8078941 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:615760 ; - oboInOwl:hasDbXref UMLS:C1419181 ; oboInOwl:hasExactSynonym "QARS1", "glnrs", "glutaminyl-trna synthetase 1", "qars" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5859 ; - skos:exactMatch HGNC_symbol:QARS1 ; + skos:exactMatch UMLS:C1419181, + HGNC:9751, + HGNC_symbol:QARS1 ; biolink:category biolink:Gene . OMIM:603728 a owl:Class ; @@ -178177,13 +183804,14 @@ OMIM:603728 a owl:Class ; PMID:8755477, PMID:9303539, PMID:9632782 ; - oboInOwl:hasDbXref UMLS:C1417890 ; oboInOwl:hasExactSynonym "NUMB", "numb endocytic adaptor protein", "numb, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8650 ; - skos:exactMatch HGNC_symbol:NUMB ; + skos:exactMatch UMLS:C1417890, + HGNC:8060, + HGNC_symbol:NUMB ; biolink:category biolink:Gene . OMIM:603729 a owl:Class ; @@ -178198,13 +183826,14 @@ OMIM:603729 a owl:Class ; PMID:9464245 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:617575 ; - oboInOwl:hasDbXref UMLS:C1420014 ; oboInOwl:hasExactSynonym "SGPL1", "sphingosine-1-phosphate lyase 1", "spl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8879 ; - skos:exactMatch HGNC_symbol:SGPL1 ; + skos:exactMatch UMLS:C1420014, + HGNC:10817, + HGNC_symbol:SGPL1 ; biolink:category biolink:Gene . OMIM:603730 a owl:Class ; @@ -178221,26 +183850,28 @@ OMIM:603730 a owl:Class ; PMID:20522778, PMID:20577214, PMID:9726979 ; - oboInOwl:hasDbXref UMLS:C1420357 ; oboInOwl:hasExactSynonym "SPHK1", "sphingosine kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8877 ; - skos:exactMatch HGNC_symbol:SPHK1 ; + skos:exactMatch UMLS:C1420357, + HGNC:11240, + HGNC_symbol:SPHK1 ; biolink:category biolink:Gene . OMIM:603731 a owl:Class ; rdfs:label "CNOT8" ; IAO:0000142 PMID:10036195, PMID:10637334 ; - oboInOwl:hasDbXref UMLS:C1418757 ; oboInOwl:hasExactSynonym "CNOT8", "caf1-like factor", "ccr4-not transcription complex, subunit 8", "pkg promoter-directed overproduction 2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9337 ; - skos:exactMatch HGNC_symbol:CNOT8 ; + skos:exactMatch UMLS:C1418757, + HGNC:9207, + HGNC_symbol:CNOT8 ; biolink:category biolink:Gene . OMIM:603732 a owl:Class ; @@ -178262,12 +183893,13 @@ OMIM:603732 a owl:Class ; PMID:9734811, PMID:9801304, PMID:9822380 ; - oboInOwl:hasDbXref UMLS:C1413725 ; oboInOwl:hasExactSynonym "CRY2", "cryptochrome 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1408 ; - skos:exactMatch HGNC_symbol:CRY2 ; + skos:exactMatch UMLS:C1413725, + HGNC:2385, + HGNC_symbol:CRY2 ; biolink:category biolink:Gene . OMIM:603733 a owl:Class ; @@ -178275,14 +183907,15 @@ OMIM:603733 a owl:Class ; IAO:0000142 PMID:12930836, PMID:9255310, PMID:9722952 ; - oboInOwl:hasDbXref UMLS:C1418772 ; oboInOwl:hasExactSynonym "SLC43A1", "l-type amino acid transporter 3", "prostate cancer overexpressed gene 1", "solute carrier family 43 (l-type amino acid transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8501 ; - skos:exactMatch HGNC_symbol:SLC43A1 ; + skos:exactMatch UMLS:C1418772, + HGNC:9225, + HGNC_symbol:SLC43A1 ; biolink:category biolink:Gene . OMIM:603734 a owl:Class ; @@ -178309,12 +183942,13 @@ OMIM:603734 a owl:Class ; PMID:9803267 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:616532 ; - oboInOwl:hasDbXref UMLS:C1334139 ; oboInOwl:hasExactSynonym "IRF3", "interferon regulatory factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3661 ; - skos:exactMatch HGNC_symbol:IRF3 ; + skos:exactMatch UMLS:C1334139, + HGNC:6118, + HGNC_symbol:IRF3 ; biolink:category biolink:Gene . OMIM:603735 a owl:Class ; @@ -178325,14 +183959,15 @@ OMIM:603735 a owl:Class ; PMID:9083076, PMID:9653080, PMID:9743358 ; - oboInOwl:hasDbXref UMLS:C1412431 ; oboInOwl:hasExactSynonym "AOC3", "amine oxidase, copper-containing, 3", "human placenta amine oxidase", "vascular adhesion protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8639 ; - skos:exactMatch HGNC_symbol:AOC3 ; + skos:exactMatch UMLS:C1412431, + HGNC:550, + HGNC_symbol:AOC3 ; biolink:category biolink:Gene . OMIM:603737 a owl:Class ; @@ -178340,15 +183975,15 @@ OMIM:603737 a owl:Class ; IAO:0000142 PMID:10213045, PMID:5619989, PMID:881128 ; - oboInOwl:hasDbXref UMLS:C0346180 ; - oboInOwl:hasExactSynonym "ovarian germ cell cancer" . + oboInOwl:hasExactSynonym "ovarian germ cell cancer" ; + skos:exactMatch UMLS:C0346180 . OMIM:603740 a owl:Class ; rdfs:label "acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia" ; IAO:0000142 PMID:10213049, PMID:6734674 ; - oboInOwl:hasDbXref UMLS:C1863556 ; - oboInOwl:hasExactSynonym "acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia" . + oboInOwl:hasExactSynonym "acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia" ; + skos:exactMatch UMLS:C1863556 . OMIM:603741 a owl:Class ; rdfs:label "ALOX12B" ; @@ -178364,7 +183999,6 @@ OMIM:603741 a owl:Class ; PMID:9837935 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:242100 ; - oboInOwl:hasDbXref UMLS:C1412357 ; oboInOwl:hasExactSynonym "12-lipoxygenase, r iia", "12r-lipoxygenase", "12r-lox", @@ -178372,7 +184006,9 @@ OMIM:603741 a owl:Class ; "arachidonate 12-lipoxygenase, r iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:242 ; - skos:exactMatch HGNC_symbol:ALOX12B ; + skos:exactMatch UMLS:C1412357, + HGNC:430, + HGNC_symbol:ALOX12B ; biolink:category biolink:Gene . OMIM:603742 a owl:Class ; @@ -178384,7 +184020,6 @@ OMIM:603742 a owl:Class ; PMID:21729787, PMID:9693030, PMID:9813312 ; - oboInOwl:hasDbXref UMLS:C1420243 ; oboInOwl:hasExactSynonym "SLIT1", "multiple epidermal growth factor-like domains 4", "slil1", @@ -178392,7 +184027,9 @@ OMIM:603742 a owl:Class ; "slit, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6585 ; - skos:exactMatch HGNC_symbol:SLIT1 ; + skos:exactMatch UMLS:C1420243, + HGNC:11085, + HGNC_symbol:SLIT1 ; biolink:category biolink:Gene . OMIM:603743 a owl:Class ; @@ -178411,22 +184048,23 @@ OMIM:603743 a owl:Class ; PMID:9325276 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:612551 ; - oboInOwl:hasDbXref UMLS:C1412485 ; oboInOwl:hasExactSynonym "APOL1", "apol", "apol-i", "apolipoprotein l-i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8542 ; - skos:exactMatch HGNC_symbol:APOL1 ; + skos:exactMatch UMLS:C1412485, + HGNC:618, + HGNC_symbol:APOL1 ; biolink:category biolink:Gene . OMIM:603744 a owl:Class ; rdfs:label "papillary thyroid microcarcinoma" ; IAO:0000142 PMID:10030330, PMID:1455316 ; - oboInOwl:hasDbXref UMLS:C1709457 ; - oboInOwl:hasExactSynonym "papillary thyroid microcarcinoma" . + oboInOwl:hasExactSynonym "papillary thyroid microcarcinoma" ; + skos:exactMatch UMLS:C1709457 . OMIM:603745 a owl:Class ; rdfs:label "SLIT3" ; @@ -178440,7 +184078,6 @@ OMIM:603745 a owl:Class ; PMID:29100090, PMID:9693030, PMID:9813312 ; - oboInOwl:hasDbXref UMLS:C1420245 ; oboInOwl:hasExactSynonym "SLIT3", "multiple epidermal growth factor-like domains 5", "slil2", @@ -178448,7 +184085,9 @@ OMIM:603745 a owl:Class ; "slit, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6586 ; - skos:exactMatch HGNC_symbol:SLIT3 ; + skos:exactMatch UMLS:C1420245, + HGNC:11087, + HGNC_symbol:SLIT3 ; biolink:category biolink:Gene . OMIM:603746 a owl:Class ; @@ -178470,25 +184109,27 @@ OMIM:603746 a owl:Class ; PMID:26026792, PMID:32999457, PMID:9813312 ; - oboInOwl:hasDbXref UMLS:C1420244 ; oboInOwl:hasExactSynonym "SLIT2", "slit guidance ligand 2", "slit, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9353 ; - skos:exactMatch HGNC_symbol:SLIT2 ; + skos:exactMatch UMLS:C1420244, + HGNC:11086, + HGNC_symbol:SLIT2 ; biolink:category biolink:Gene . OMIM:603747 a owl:Class ; rdfs:label "TPD52L2" ; IAO:0000142 PMID:9838088 ; - oboInOwl:hasDbXref UMLS:C1420869 ; oboInOwl:hasExactSynonym "TPD52L2", "d54", "tumor protein d52-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7165 ; - skos:exactMatch HGNC_symbol:TPD52L2 ; + skos:exactMatch UMLS:C1420869, + HGNC:12007, + HGNC_symbol:TPD52L2 ; biolink:category biolink:Gene . OMIM:603748 a owl:Class ; @@ -178515,7 +184156,6 @@ OMIM:603749 a owl:Class ; PMID:30467180, PMID:9179495, PMID:9806837 ; - oboInOwl:hasDbXref UMLS:C1421174 ; oboInOwl:hasExactSynonym "TRPM2", "knp3", "long transient receptor potential channel 2", @@ -178523,19 +184163,22 @@ OMIM:603749 a owl:Class ; "transient receptor potential channel 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7226 ; - skos:exactMatch HGNC_symbol:TRPM2 ; + skos:exactMatch UMLS:C1421174, + HGNC:12339, + HGNC_symbol:TRPM2 ; biolink:category biolink:Gene . OMIM:603750 a owl:Class ; rdfs:label "AQP8" ; IAO:0000142 PMID:10393433, PMID:9806845 ; - oboInOwl:hasDbXref UMLS:C1412498 ; oboInOwl:hasExactSynonym "AQP8", "aquaporin 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343 ; - skos:exactMatch HGNC_symbol:AQP8 ; + skos:exactMatch UMLS:C1412498, + HGNC:642, + HGNC_symbol:AQP8 ; biolink:category biolink:Gene . OMIM:603751 a owl:Class ; @@ -178544,26 +184187,28 @@ OMIM:603751 a owl:Class ; PMID:12401211, PMID:8404068, PMID:9790765 ; - oboInOwl:hasDbXref UMLS:C1414258 ; oboInOwl:hasExactSynonym "S1PR4", "endothelial differentiation gene 6", "s1p receptor 4", "sphingosine-1-phosphate receptor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8698 ; - skos:exactMatch HGNC_symbol:S1PR4 ; + skos:exactMatch UMLS:C1414258, + HGNC:3170, + HGNC_symbol:S1PR4 ; biolink:category biolink:Gene . OMIM:603752 a owl:Class ; rdfs:label "SLC7A4" ; IAO:0000142 PMID:9598310 ; - oboInOwl:hasDbXref UMLS:C1420224 ; oboInOwl:hasExactSynonym "SLC7A4", "cationic amino acid transporter 4", "solute carrier family 7 (cationic amino acid transporter, y+ system), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6545 ; - skos:exactMatch HGNC_symbol:SLC7A4 ; + skos:exactMatch UMLS:C1420224, + HGNC:11062, + HGNC_symbol:SLC7A4 ; biolink:category biolink:Gene . OMIM:603753 a owl:Class ; @@ -178572,14 +184217,15 @@ OMIM:603753 a owl:Class ; PMID:8590280 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:619639 ; - oboInOwl:hasDbXref UMLS:C1421296 ; oboInOwl:hasExactSynonym "UBE4A", "ubiquitin conjugation factor e4", "ubiquitination factor e4a", "ufd2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9354 ; - skos:exactMatch HGNC_symbol:UBE4A ; + skos:exactMatch UMLS:C1421296, + HGNC:12499, + HGNC_symbol:UBE4A ; biolink:category biolink:Gene . OMIM:603754 a owl:Class ; @@ -178592,14 +184238,15 @@ OMIM:603754 a owl:Class ; PMID:9865700 ; RO:0002525 CHR:9606chr20q11.21 ; RO:0003303 OMIM:618955 ; - oboInOwl:hasDbXref UMLS:C1416635, - UMLS:C5394552 ; oboInOwl:hasExactSynonym "KIF3B", "kiaa0359", "kinesin family member 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9371 ; - skos:exactMatch HGNC_symbol:KIF3B ; + skos:exactMatch UMLS:C1416635, + UMLS:C5394552, + HGNC:6320, + HGNC_symbol:KIF3B ; biolink:category biolink:Gene . OMIM:603755 a owl:Class ; @@ -178608,7 +184255,6 @@ OMIM:603755 a owl:Class ; PMID:15356634, PMID:17110576, PMID:9865696 ; - oboInOwl:hasDbXref UMLS:C1538172 ; oboInOwl:hasExactSynonym "ZFYVE9", "madh-interacting protein", "receptor activation anchor", @@ -178616,7 +184262,9 @@ OMIM:603755 a owl:Class ; "zinc finger fyve type-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9372 ; - skos:exactMatch HGNC_symbol:ZFYVE9 ; + skos:exactMatch UMLS:C1538172, + HGNC:6775, + HGNC_symbol:ZFYVE9 ; biolink:category biolink:Gene . OMIM:603756 a owl:Class ; @@ -178643,7 +184291,6 @@ OMIM:603756 a owl:Class ; PMID:9892175 ; RO:0002525 CHR:9606chr4q22.1 ; RO:0003303 OMIM:138900 ; - oboInOwl:hasDbXref UMLS:C1332002 ; oboInOwl:hasExactSynonym "ABCG2", "atp-binding cassette transporter, placenta-specific", "atp-binding cassette, subfamily g, member 2", @@ -178651,7 +184298,9 @@ OMIM:603756 a owl:Class ; "mitoxantrone-resistance protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9429 ; - skos:exactMatch HGNC_symbol:ABCG2 ; + skos:exactMatch UMLS:C1332002, + HGNC:74, + HGNC_symbol:ABCG2 ; biolink:category biolink:Gene . OMIM:603757 a owl:Class ; @@ -178663,7 +184312,6 @@ OMIM:603757 a owl:Class ; PMID:9192897, PMID:9233607, PMID:9570561 ; - oboInOwl:hasDbXref UMLS:C1332681 ; oboInOwl:hasExactSynonym "CCL18", "alternative macrophage activation-associated cc chemokine 1", "chemokine, cc motif, ligand 18", @@ -178672,7 +184320,9 @@ OMIM:603757 a owl:Class ; "small inducible cytokine subfamily a, member 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6362 ; - skos:exactMatch HGNC_symbol:CCL18 ; + skos:exactMatch UMLS:C1332681, + HGNC:10616, + HGNC_symbol:CCL18 ; biolink:category biolink:Gene . OMIM:603758 a owl:Class ; @@ -178685,14 +184335,15 @@ OMIM:603758 a owl:Class ; PMID:9925947 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:617596 ; - oboInOwl:hasDbXref UMLS:C1415341 ; oboInOwl:hasExactSynonym "GSTZ1", "glutathione s-transferase z1", "glutathione s-transferase, zeta-1", "maleylacetoacetate isomerase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2954 ; - skos:exactMatch HGNC_symbol:GSTZ1 ; + skos:exactMatch UMLS:C1415341, + HGNC:4643, + HGNC_symbol:GSTZ1 ; biolink:category biolink:Gene . OMIM:603759 a owl:Class ; @@ -178705,13 +184356,14 @@ OMIM:603759 a owl:Class ; PMID:7513049, PMID:7678338, PMID:8649822 ; - oboInOwl:hasDbXref UMLS:C1334338 ; oboInOwl:hasExactSynonym "LHX2", "lim homeobox gene 2", "lim hox gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9355 ; - skos:exactMatch HGNC_symbol:LHX2 ; + skos:exactMatch UMLS:C1334338, + HGNC:6594, + HGNC_symbol:LHX2 ; biolink:category biolink:Gene . OMIM:603760 a owl:Class ; @@ -178720,12 +184372,13 @@ OMIM:603760 a owl:Class ; PMID:9828130, PMID:9872989, PMID:9878245 ; - oboInOwl:hasDbXref UMLS:C1415818 ; oboInOwl:hasExactSynonym "HUS1", "hydroxyurea-sensitive 1, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3364 ; - skos:exactMatch HGNC_symbol:HUS1 ; + skos:exactMatch UMLS:C1415818, + HGNC:5309, + HGNC_symbol:HUS1 ; biolink:category biolink:Gene . OMIM:603761 a owl:Class ; @@ -178734,27 +184387,29 @@ OMIM:603761 a owl:Class ; PMID:16444745, PMID:8943031, PMID:9872989 ; - oboInOwl:hasDbXref UMLS:C1419245 ; oboInOwl:hasExactSynonym "RAD9A", "rad9, s. pombe, homolog of", "rad9, s. pombe, homolog of, a", "rad9a checkpoint clamp component a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5883 ; - skos:exactMatch HGNC_symbol:RAD9A ; + skos:exactMatch UMLS:C1419245, + HGNC:9827, + HGNC_symbol:RAD9A ; biolink:category biolink:Gene . OMIM:603762 a owl:Class ; rdfs:label "PRPSAP2" ; IAO:0000142 PMID:9545573, PMID:9806849 ; - oboInOwl:hasDbXref UMLS:C1418959 ; oboInOwl:hasExactSynonym "PRPSAP2", "pap41", "phosphoribosylpyrophosphate synthetase-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5636 ; - skos:exactMatch HGNC_symbol:PRPSAP2 ; + skos:exactMatch UMLS:C1418959, + HGNC:9467, + HGNC_symbol:PRPSAP2 ; biolink:category biolink:Gene . OMIM:603763 a owl:Class ; @@ -178765,14 +184420,15 @@ OMIM:603763 a owl:Class ; PMID:15479732, PMID:8224825, PMID:8276466 ; - oboInOwl:hasDbXref UMLS:C1416694 ; oboInOwl:hasExactSynonym "KIFC1", "hset", "kinesin family member c1", "kinesin-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3833 ; - skos:exactMatch HGNC_symbol:KIFC1 ; + skos:exactMatch UMLS:C1416694, + HGNC:6389, + HGNC_symbol:KIFC1 ; biolink:category biolink:Gene . OMIM:603764 a owl:Class ; @@ -178780,7 +184436,6 @@ OMIM:603764 a owl:Class ; IAO:0000142 PMID:10965112, PMID:7592934, PMID:9655938 ; - oboInOwl:hasDbXref UMLS:C1413286 ; oboInOwl:hasExactSynonym "CDK5R2", "cyclin-dependent kinase 5, regulatory partner, 39-kd", "cyclin-dependent kinase 5, regulatory subunit 2", @@ -178788,19 +184443,22 @@ OMIM:603764 a owl:Class ; "p39(nck5ai)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8941 ; - skos:exactMatch HGNC_symbol:CDK5R2 ; + skos:exactMatch UMLS:C1413286, + HGNC:1776, + HGNC_symbol:CDK5R2 ; biolink:category biolink:Gene . OMIM:603765 a owl:Class ; rdfs:label "STX10" ; IAO:0000142 PMID:9446797 ; - oboInOwl:hasDbXref UMLS:C1420493 ; oboInOwl:hasExactSynonym "STX10", "syn10", "syntaxin 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8677 ; - skos:exactMatch HGNC_symbol:STX10 ; + skos:exactMatch UMLS:C1420493, + HGNC:11428, + HGNC_symbol:STX10 ; biolink:category biolink:Gene . OMIM:603766 a owl:Class ; @@ -178808,12 +184466,13 @@ OMIM:603766 a owl:Class ; IAO:0000142 PMID:12932832, PMID:7829522, PMID:9925935 ; - oboInOwl:hasDbXref UMLS:C1417427 ; oboInOwl:hasExactSynonym "MTIF2", "mitochondrial translational initiation factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4528 ; - skos:exactMatch HGNC_symbol:MTIF2 ; + skos:exactMatch UMLS:C1417427, + HGNC:7441, + HGNC_symbol:MTIF2 ; biolink:category biolink:Gene . OMIM:603767 a owl:Class ; @@ -178829,7 +184488,6 @@ OMIM:603767 a owl:Class ; PMID:23355523 ; RO:0002525 CHR:9606chr19q13.41 ; RO:0003303 OMIM:204700 ; - oboInOwl:hasDbXref UMLS:C1416675 ; oboInOwl:hasExactSynonym "KLK4", "enamel matrix serine proteinase 1", "kallikrein 4", @@ -178838,19 +184496,22 @@ OMIM:603767 a owl:Class ; "protease, serine, 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9622 ; - skos:exactMatch HGNC_symbol:KLK4 ; + skos:exactMatch UMLS:C1416675, + HGNC:6365, + HGNC_symbol:KLK4 ; biolink:category biolink:Gene . OMIM:603768 a owl:Class ; rdfs:label "PPP1R12B" ; IAO:0000142 PMID:9570949 ; - oboInOwl:hasDbXref UMLS:C1417582 ; oboInOwl:hasExactSynonym "PPP1R12B", "myosin phosphatase target subunit 2", "protein phosphatase 1, regulatory subunit 12b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4660 ; - skos:exactMatch HGNC_symbol:PPP1R12B ; + skos:exactMatch UMLS:C1417582, + HGNC:7619, + HGNC_symbol:PPP1R12B ; biolink:category biolink:Gene . OMIM:603769 a owl:Class ; @@ -178858,13 +184519,14 @@ OMIM:603769 a owl:Class ; IAO:0000142 PMID:10077617, PMID:10588720 ; RO:0002525 CHR:9606chr14q32.13 ; - oboInOwl:hasDbXref UMLS:C1336598 ; oboInOwl:hasExactSynonym "TCL1B", "t-cell lymphoma/leukemia 1b", "tml1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9623 ; - skos:exactMatch HGNC_symbol:TCL1B ; + skos:exactMatch UMLS:C1336598, + HGNC:11649, + HGNC_symbol:TCL1B ; biolink:category biolink:Gene . OMIM:603770 a owl:Class ; @@ -178872,7 +184534,6 @@ OMIM:603770 a owl:Class ; IAO:0000142 PMID:11524703, PMID:15913950, PMID:9684878 ; - oboInOwl:hasDbXref UMLS:C1418815 ; oboInOwl:hasExactSynonym "PPM1B", "protein phosphatase 2c, beta isoform, formerly", "protein phosphatase, magnesium-dependent, 1, beta isoform", @@ -178880,7 +184541,9 @@ OMIM:603770 a owl:Class ; "protein phosphatase, magnesium/manganese-dependent, 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5495 ; - skos:exactMatch HGNC_symbol:PPM1B ; + skos:exactMatch UMLS:C1418815, + HGNC:9276, + HGNC_symbol:PPM1B ; biolink:category biolink:Gene . OMIM:603771 a owl:Class ; @@ -178890,27 +184553,29 @@ OMIM:603771 a owl:Class ; PMID:8838313, PMID:9461602, PMID:9784381 ; - oboInOwl:hasDbXref UMLS:C1418822 ; oboInOwl:hasExactSynonym "PPP1R10", "pp1 nuclear targeting subunit", "protein phosphatase 1 nuclear targeting subunit", "protein phosphatase 1, regulatory subunit 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5514 ; - skos:exactMatch HGNC_symbol:PPP1R10 ; + skos:exactMatch UMLS:C1418822, + HGNC:9284, + HGNC_symbol:PPP1R10 ; biolink:category biolink:Gene . OMIM:603772 a owl:Class ; rdfs:label "DYNC1I1" ; IAO:0000142 PMID:10049579 ; - oboInOwl:hasDbXref UMLS:C1825006 ; oboInOwl:hasExactSynonym "DYNC1I1", "dnci1", "dynein, cytoplasmic 1, intermediate chain 1", "ic74" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1780 ; - skos:exactMatch HGNC_symbol:DYNC1I1 ; + skos:exactMatch UMLS:C1825006, + HGNC:2963, + HGNC_symbol:DYNC1I1 ; biolink:category biolink:Gene . OMIM:603773 a owl:Class ; @@ -178920,14 +184585,15 @@ OMIM:603773 a owl:Class ; PMID:2853101 ; RO:0002525 CHR:9606chr15q24.2 ; RO:0003303 OMIM:619064 ; - oboInOwl:hasDbXref UMLS:C1413636, - UMLS:C5436726 ; oboInOwl:hasExactSynonym "COX5A", "cytochrome c oxidase, subunit 5a", "cytochrome c oxidase, subunit va" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9377 ; - skos:exactMatch HGNC_symbol:COX5A ; + skos:exactMatch UMLS:C1413636, + UMLS:C5436726, + HGNC:2267, + HGNC_symbol:COX5A ; biolink:category biolink:Gene . OMIM:603774 a owl:Class ; @@ -178935,13 +184601,14 @@ OMIM:603774 a owl:Class ; IAO:0000142 PMID:10072584, PMID:2155413, PMID:9752724 ; - oboInOwl:hasDbXref UMLS:C1413659 ; oboInOwl:hasExactSynonym "COX7C", "cytochrome c oxidase, subunit 7c", "cytochrome c oxidase, subunit viic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1350 ; - skos:exactMatch HGNC_symbol:COX7C ; + skos:exactMatch UMLS:C1413659, + HGNC:2292, + HGNC_symbol:COX7C ; biolink:category biolink:Gene . OMIM:603775 a owl:Class ; @@ -178950,12 +184617,13 @@ OMIM:603775 a owl:Class ; PMID:9840927, PMID:9840943, PMID:9858585 ; - oboInOwl:hasDbXref UMLS:C1332698 ; oboInOwl:hasExactSynonym "CCNE2", "cyclin e2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9134 ; - skos:exactMatch HGNC_symbol:CCNE2 ; + skos:exactMatch UMLS:C1332698, + HGNC:1590, + HGNC_symbol:CCNE2 ; biolink:category biolink:Gene . OMIM:603777 a owl:Class ; @@ -178963,7 +184631,6 @@ OMIM:603777 a owl:Class ; IAO:0000142 PMID:10049596, PMID:9501024, PMID:9600941 ; - oboInOwl:hasDbXref UMLS:C1413346 ; oboInOwl:hasExactSynonym "CER1", "cerberus 1 homolog, cystine knot superfamily", "cerberus 1, dan family bmp antagonist", @@ -178971,7 +184638,9 @@ OMIM:603777 a owl:Class ; "dand4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9350 ; - skos:exactMatch HGNC_symbol:CER1 ; + skos:exactMatch UMLS:C1413346, + HGNC:1862, + HGNC_symbol:CER1 ; biolink:category biolink:Gene . OMIM:603778 a owl:Class ; @@ -178979,14 +184648,15 @@ OMIM:603778 a owl:Class ; IAO:0000142 PMID:10192397, PMID:18450745, PMID:19061646 ; - oboInOwl:hasDbXref UMLS:C1413305 ; oboInOwl:hasExactSynonym "CDYL", "cdy-like protein", "cdyl1", "chromodomain protein on y chromosome-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9425 ; - skos:exactMatch HGNC_symbol:CDYL ; + skos:exactMatch UMLS:C1413305, + HGNC:1811, + HGNC_symbol:CDYL ; biolink:category biolink:Gene . OMIM:603779 a owl:Class ; @@ -179000,14 +184670,15 @@ OMIM:603779 a owl:Class ; PMID:19760259, PMID:20185556, PMID:23284848 ; - oboInOwl:hasDbXref UMLS:C1420277, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "SNCAIP", "synphilin 1", "synuclein-alpha-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9627 ; - skos:exactMatch HGNC_symbol:SNCAIP ; + skos:exactMatch UMLS:C1420277, + UMLS:C4015968, + HGNC:11139, + HGNC_symbol:SNCAIP ; biolink:category biolink:Gene . OMIM:603780 a owl:Class ; @@ -179028,26 +184699,28 @@ OMIM:603780 a owl:Class ; PMID:9878247 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:268400 ; - oboInOwl:hasDbXref UMLS:C1335607 ; oboInOwl:hasExactSynonym "DNA helicase, recq-like, iia 4", "RECQL4", "recq protein-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9401 ; - skos:exactMatch HGNC_symbol:RECQL4 ; + skos:exactMatch UMLS:C1335607, + HGNC:9949, + HGNC_symbol:RECQL4 ; biolink:category biolink:Gene . OMIM:603781 a owl:Class ; rdfs:label "RECQL5" ; IAO:0000142 PMID:18003859, PMID:9878247 ; - oboInOwl:hasDbXref UMLS:C1335608 ; oboInOwl:hasExactSynonym "DNA helicase, recq-like, iia 5", "RECQL5", "recq protein-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9400 ; - skos:exactMatch HGNC_symbol:RECQL5 ; + skos:exactMatch UMLS:C1335608, + HGNC:9950, + HGNC_symbol:RECQL5 ; biolink:category biolink:Gene . OMIM:603782 a owl:Class ; @@ -179060,7 +184733,6 @@ OMIM:603782 a owl:Class ; PMID:15843566, PMID:1972563, PMID:2247088 ; - oboInOwl:hasDbXref UMLS:C1824662 ; oboInOwl:hasExactSynonym "CCL4L1", "at744.2", "ccl4l", @@ -179069,7 +184741,9 @@ OMIM:603782 a owl:Class ; "small inducible cytokine a4-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388372 ; - skos:exactMatch HGNC_symbol:CCL4L1 ; + skos:exactMatch UMLS:C1824662, + HGNC:10631, + HGNC_symbol:CCL4L1 ; biolink:category biolink:Gene . OMIM:603784 a owl:Class ; @@ -179077,7 +184751,6 @@ OMIM:603784 a owl:Class ; IAO:0000142 PMID:10781616, PMID:7581366, PMID:9570958 ; - oboInOwl:hasDbXref UMLS:C1422035 ; oboInOwl:hasExactSynonym "PTTG1IP", "chromosome 21 open reading frame 1", "chromosome 21 open reading frame 3", @@ -179086,7 +184759,9 @@ OMIM:603784 a owl:Class ; "pttg-binding factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:754 ; - skos:exactMatch HGNC_symbol:PTTG1IP ; + skos:exactMatch UMLS:C1422035, + HGNC:13524, + HGNC_symbol:PTTG1IP ; biolink:category biolink:Gene . OMIM:603785 a owl:Class ; @@ -179096,39 +184771,42 @@ OMIM:603785 a owl:Class ; PMID:9537516 ; RO:0002525 CHR:9606chr9p23 ; RO:0003303 OMIM:615219 ; - oboInOwl:hasDbXref UMLS:C1417236 ; oboInOwl:hasExactSynonym "MPDZ", "multiple pdz domain crumbs cell polarity complex component", "multiple pdz domain protein", "mupp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8777 ; - skos:exactMatch HGNC_symbol:MPDZ ; + skos:exactMatch UMLS:C1417236, + HGNC:7208, + HGNC_symbol:MPDZ ; biolink:category biolink:Gene . OMIM:603787 a owl:Class ; rdfs:label "KCNF1" ; IAO:0000142 PMID:9434767 ; - oboInOwl:hasDbXref UMLS:C1416568 ; oboInOwl:hasExactSynonym "KCNF1", "kh1", "potassium channel, voltage-gated, subfamily f, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3754 ; - skos:exactMatch HGNC_symbol:KCNF1 ; + skos:exactMatch UMLS:C1416568, + HGNC:6246, + HGNC_symbol:KCNF1 ; biolink:category biolink:Gene . OMIM:603788 a owl:Class ; rdfs:label "KCNG1" ; IAO:0000142 PMID:12644935, PMID:9434767 ; - oboInOwl:hasDbXref UMLS:C1416569 ; oboInOwl:hasExactSynonym "KCNG1", "kh2", "potassium channel, voltage-gated, subfamily g, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3755 ; - skos:exactMatch HGNC_symbol:KCNG1 ; + skos:exactMatch UMLS:C1416569, + HGNC:6248, + HGNC_symbol:KCNG1 ; biolink:category biolink:Gene . OMIM:603789 a owl:Class ; @@ -179143,14 +184821,15 @@ OMIM:603790 a owl:Class ; PMID:11984597, PMID:17541511, PMID:9804989 ; - oboInOwl:hasDbXref UMLS:C1420145 ; oboInOwl:hasExactSynonym "SLC23A1", "sodium-dependent vitamin c transporter 1", "solute carrier family 23 (nucleobase transporter), member 1", "yolk sac permease-like molecule 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9963 ; - skos:exactMatch HGNC_symbol:SLC23A1 ; + skos:exactMatch UMLS:C1420145, + HGNC:10974, + HGNC_symbol:SLC23A1 ; biolink:category biolink:Gene . OMIM:603791 a owl:Class ; @@ -179163,7 +184842,6 @@ OMIM:603791 a owl:Class ; PMID:17541511, PMID:9039502, PMID:9804989 ; - oboInOwl:hasDbXref UMLS:C1420144 ; oboInOwl:hasExactSynonym "SLC23A2", "kiaa0238", "sodium-dependent vitamin c transporter 2", @@ -179171,7 +184849,9 @@ OMIM:603791 a owl:Class ; "yolk sac permease-like molecule 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9962 ; - skos:exactMatch HGNC_symbol:SLC23A2 ; + skos:exactMatch UMLS:C1420144, + HGNC:10973, + HGNC_symbol:SLC23A2 ; biolink:category biolink:Gene . OMIM:603792 a owl:Class ; @@ -179187,8 +184867,8 @@ OMIM:603794 a owl:Class ; PMID:3342168, PMID:3777977, PMID:5552350 ; - oboInOwl:hasDbXref UMLS:C1863533 ; - oboInOwl:hasExactSynonym "hydroa vacciniforme, familial" . + oboInOwl:hasExactSynonym "hydroa vacciniforme, familial" ; + skos:exactMatch UMLS:C1863533 . OMIM:603795 a owl:Class ; rdfs:label "LITAF" ; @@ -179208,8 +184888,6 @@ OMIM:603795 a owl:Class ; PMID:9305847 ; RO:0002525 CHR:9606chr16p13.13 ; RO:0003303 OMIM:601098 ; - oboInOwl:hasDbXref UMLS:C0270913, - UMLS:C1424587 ; oboInOwl:hasExactSynonym "LITAF", "lipopolysaccharide-induced tumor necrosis factor", "lipopolysaccharide-induced tumor necrosis factor-alpha factor", @@ -179217,7 +184895,10 @@ OMIM:603795 a owl:Class ; "small integral membrane protein of lysosome/late endosome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9516 ; - skos:exactMatch HGNC_symbol:LITAF ; + skos:exactMatch UMLS:C0270913, + UMLS:C1424587, + HGNC:16841, + HGNC_symbol:LITAF ; biolink:category biolink:Gene . OMIM:603796 a owl:Class ; @@ -179233,14 +184914,15 @@ OMIM:603796 a owl:Class ; PMID:24681347 ; RO:0002525 CHR:9606chr21q22.11 ; RO:0003303 OMIM:613693 ; - oboInOwl:hasDbXref UMLS:C1416565 ; oboInOwl:hasExactSynonym "KCNE2", "minimum potassium ion channel-related peptide 1", "mink-related peptide 1", "potassium channel, voltage-gated, isk-related subfamily, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9992 ; - skos:exactMatch HGNC_symbol:KCNE2 ; + skos:exactMatch UMLS:C1416565, + HGNC:6242, + HGNC_symbol:KCNE2 ; biolink:category biolink:Gene . OMIM:603797 a owl:Class ; @@ -179248,13 +184930,14 @@ OMIM:603797 a owl:Class ; IAO:0000142 PMID:11829137, PMID:9405439, PMID:9639683 ; - oboInOwl:hasDbXref UMLS:C1413414 ; oboInOwl:hasExactSynonym "CHST1", "carbohydrate sulfotransferase 1", "keratan sulfate gal-6-sulfotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8534 ; - skos:exactMatch HGNC_symbol:CHST1 ; + skos:exactMatch UMLS:C1413414, + HGNC:1969, + HGNC_symbol:CHST1 ; biolink:category biolink:Gene . OMIM:603798 a owl:Class ; @@ -179263,7 +184946,6 @@ OMIM:603798 a owl:Class ; PMID:16227986, PMID:9712885, PMID:9722682 ; - oboInOwl:hasDbXref UMLS:C1413415 ; oboInOwl:hasExactSynonym "CHST2", "carbohydrate sulfotransferase 2", "glcnac-6-o-sulfotransferase", @@ -179272,7 +184954,9 @@ OMIM:603798 a owl:Class ; "n-acetylglucosamine-6-o-sulfotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9435 ; - skos:exactMatch HGNC_symbol:CHST2 ; + skos:exactMatch UMLS:C1413415, + HGNC:1970, + HGNC_symbol:CHST2 ; biolink:category biolink:Gene . OMIM:603799 a owl:Class ; @@ -179292,14 +184976,15 @@ OMIM:603799 a owl:Class ; PMID:9883891 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:143095 ; - oboInOwl:hasDbXref UMLS:C1413416 ; oboInOwl:hasExactSynonym "CHST3", "c6st1", "carbohydrate sulfotransferase 3", "chondroitin 6-sulfotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9469 ; - skos:exactMatch HGNC_symbol:CHST3 ; + skos:exactMatch UMLS:C1413416, + HGNC:1971, + HGNC_symbol:CHST3 ; biolink:category biolink:Gene . OMIM:603800 a owl:Class ; @@ -179308,25 +184993,27 @@ OMIM:603800 a owl:Class ; PMID:8598913, PMID:8609996, PMID:9734358 ; - oboInOwl:hasDbXref UMLS:C1420526 ; oboInOwl:hasExactSynonym "MED21", "mediator complex subunit 21", "suppressor of RNA polymerase B 7, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9412 ; - skos:exactMatch HGNC_symbol:MED21 ; + skos:exactMatch UMLS:C1420526, + HGNC:11473, + HGNC_symbol:MED21 ; biolink:category biolink:Gene . OMIM:603801 a owl:Class ; rdfs:label "NMT2" ; IAO:0000142 PMID:17568424, PMID:9506952 ; - oboInOwl:hasDbXref UMLS:C1334886 ; oboInOwl:hasExactSynonym "NMT2", "n-myristoyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9397 ; - skos:exactMatch HGNC_symbol:NMT2 ; + skos:exactMatch UMLS:C1334886, + HGNC:7858, + HGNC_symbol:NMT2 ; biolink:category biolink:Gene . OMIM:603802 a owl:Class ; @@ -179335,8 +185022,8 @@ OMIM:603802 a owl:Class ; PMID:17975804, PMID:18452193, PMID:20124203 ; - oboInOwl:hasDbXref UMLS:C1863516 ; oboInOwl:hasExactSynonym "microcephaly with simplified gyral pattern" ; + skos:exactMatch UMLS:C1863516 ; biolink:category biolink:Disease . OMIM:603803 a owl:Class ; @@ -179348,14 +185035,15 @@ OMIM:603803 a owl:Class ; PMID:18467491, PMID:9651501, PMID:9933575 ; - oboInOwl:hasDbXref UMLS:C1413899 ; oboInOwl:hasExactSynonym "DACH1", "dach", "dachshund family transcription factor 1", "dachshund, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1602 ; - skos:exactMatch HGNC_symbol:DACH1 ; + skos:exactMatch UMLS:C1413899, + HGNC:2663, + HGNC_symbol:DACH1 ; biolink:category biolink:Gene . OMIM:603804 a owl:Class ; @@ -179363,14 +185051,15 @@ OMIM:603804 a owl:Class ; IAO:0000142 PMID:17003037, PMID:19723503, PMID:9519875 ; - oboInOwl:hasDbXref UMLS:C1334875 ; oboInOwl:hasExactSynonym "NEURL1", "neur1", "neuralized e3 ubiquitin protein ligase 1", "neuralized-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9148 ; - skos:exactMatch HGNC_symbol:NEURL1 ; + skos:exactMatch UMLS:C1334875, + HGNC:7761, + HGNC_symbol:NEURL1 ; biolink:category biolink:Gene . OMIM:603805 a owl:Class ; @@ -179384,13 +185073,14 @@ OMIM:603805 a owl:Class ; PMID:9452468 ; RO:0002525 CHR:9606chr15q15.2 ; RO:0003303 OMIM:609796 ; - oboInOwl:hasDbXref UMLS:C1420717 ; oboInOwl:hasExactSynonym "TGM5", "transglutaminase 10", "transglutaminase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9333 ; - skos:exactMatch HGNC_symbol:TGM5 ; + skos:exactMatch UMLS:C1420717, + HGNC:11781, + HGNC_symbol:TGM5 ; biolink:category biolink:Gene . OMIM:603806 a owl:Class ; @@ -179398,8 +185088,8 @@ OMIM:603806 a owl:Class ; IAO:0000142 PMID:10232756, PMID:14129871, PMID:7354514 ; - oboInOwl:hasDbXref UMLS:C1863514 ; - oboInOwl:hasExactSynonym "urinary tract infections, recurrent, susceptibility to" . + oboInOwl:hasExactSynonym "urinary tract infections, recurrent, susceptibility to" ; + skos:exactMatch UMLS:C1863514 . OMIM:603807 a owl:Class ; IAO:0100001 OMIM:107250 ; @@ -179413,15 +185103,16 @@ OMIM:603808 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr17q23.2 ; RO:0003303 OMIM:618009 ; - oboInOwl:hasDbXref UMLS:C1427770, - UMLS:C5231400 ; oboInOwl:hasExactSynonym "MED13", "mediator complex subunit 13", "thyroid hormone receptor-associated protein 1", "thyroid hormone receptor-associated protein, 240-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9969 ; - skos:exactMatch HGNC_symbol:MED13 ; + skos:exactMatch UMLS:C1427770, + UMLS:C5231400, + HGNC:22474, + HGNC_symbol:MED13 ; biolink:category biolink:Gene . OMIM:603809 a owl:Class ; @@ -179429,13 +185120,14 @@ OMIM:603809 a owl:Class ; IAO:0000142 PMID:10198638, PMID:24100041, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1427817 ; oboInOwl:hasExactSynonym "THRAP3", "thyroid hormone receptor-associated protein 3", "thyroid hormone receptor-associated protein, 150-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9967 ; - skos:exactMatch HGNC_symbol:THRAP3 ; + skos:exactMatch UMLS:C1427817, + HGNC:22964, + HGNC_symbol:THRAP3 ; biolink:category biolink:Gene . OMIM:603810 a owl:Class ; @@ -179449,7 +185141,6 @@ OMIM:603810 a owl:Class ; PMID:9989412 ; RO:0002525 CHR:9606chr11q21 ; RO:0003303 OMIM:613668 ; - oboInOwl:hasDbXref UMLS:C1332784 ; oboInOwl:hasExactSynonym "MED17", "cofactor required for sp1 transcriptional activation, subunit 6", "crsp, 77-kd subunit", @@ -179459,7 +185150,9 @@ OMIM:603810 a owl:Class ; "vitamin d receptor-interacting protein, 80-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9440 ; - skos:exactMatch HGNC_symbol:MED17 ; + skos:exactMatch UMLS:C1332784, + HGNC:2375, + HGNC_symbol:MED17 ; biolink:category biolink:Gene . OMIM:603811 a owl:Class ; @@ -179475,19 +185168,19 @@ OMIM:603811 a owl:Class ; PMID:9740667 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:614008 ; - oboInOwl:hasDbXref UMLS:C1424954 ; oboInOwl:hasExactSynonym "BANF1", "barrier-to-autointegration factor", "barrier-to-autointegration factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8815 ; - skos:exactMatch HGNC_symbol:BANF1 ; + skos:exactMatch UMLS:C1424954, + HGNC:17397, + HGNC_symbol:BANF1 ; biolink:category biolink:Gene . OMIM:603812 a owl:Class ; rdfs:label "DCAF5" ; IAO:0000142 PMID:9740667 ; - oboInOwl:hasDbXref UMLS:C1336984 ; oboInOwl:hasExactSynonym "DCAF5", "breakpoint cluster region protein 2", "d14s1461e", @@ -179495,7 +185188,9 @@ OMIM:603812 a owl:Class ; "wd repeat-containing protein 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8816 ; - skos:exactMatch HGNC_symbol:DCAF5 ; + skos:exactMatch UMLS:C1336984, + HGNC:20224, + HGNC_symbol:DCAF5 ; biolink:category biolink:Gene . OMIM:603814 a owl:Class ; @@ -179511,26 +185206,28 @@ OMIM:603814 a owl:Class ; PMID:14739464, PMID:17041588, PMID:24357321 ; - oboInOwl:hasDbXref UMLS:C1335605 ; oboInOwl:hasExactSynonym "RBX1", "regulator of cullins 1", "ring-box 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9978 ; - skos:exactMatch HGNC_symbol:RBX1 ; + skos:exactMatch UMLS:C1335605, + HGNC:9928, + HGNC_symbol:RBX1 ; biolink:category biolink:Gene . OMIM:603815 a owl:Class ; rdfs:label "KIF25" ; IAO:0000142 PMID:1346080, PMID:9925916 ; - oboInOwl:hasDbXref UMLS:C1416695 ; oboInOwl:hasExactSynonym "KIF25", "kinesin family member 25", "kinesin-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3834 ; - skos:exactMatch HGNC_symbol:KIF25 ; + skos:exactMatch UMLS:C1416695, + HGNC:6390, + HGNC_symbol:KIF25 ; biolink:category biolink:Gene . OMIM:603816 a owl:Class ; @@ -179548,28 +185245,30 @@ OMIM:603816 a owl:Class ; PMID:9230313 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:114550 ; - oboInOwl:hasDbXref UMLS:C1332125 ; oboInOwl:hasExactSynonym "AXIN1", "axin", "axis inhibitor 1", "fused, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8312 ; - skos:exactMatch HGNC_symbol:AXIN1 ; + skos:exactMatch UMLS:C1332125, + HGNC:903, + HGNC_symbol:AXIN1 ; biolink:category biolink:Gene . OMIM:603817 a owl:Class ; rdfs:label "DDEF2" ; IAO:0000142 PMID:10022920, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1413945 ; oboInOwl:hasExactSynonym "DDEF2", "development- and differentiation-enhancing factor 2", "kiaa0400", "pyk c-terminus associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8853 ; - skos:exactMatch HGNC_symbol:ASAP2 ; + skos:exactMatch UMLS:C1413945, + HGNC:2721, + HGNC_symbol:ASAP2 ; biolink:category biolink:Gene . OMIM:603818 a owl:Class ; @@ -179581,27 +185280,29 @@ OMIM:603818 a owl:Class ; PMID:9168115, PMID:9199335, PMID:9208852 ; - oboInOwl:hasDbXref UMLS:C1334902 ; oboInOwl:hasExactSynonym "NRG2", "divergent of neuregulin 1", "neural- and thymus-derived activator for the erbb kinase", "neuregulin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9542 ; - skos:exactMatch HGNC_symbol:NRG2 ; + skos:exactMatch UMLS:C1334902, + HGNC:7998, + HGNC_symbol:NRG2 ; biolink:category biolink:Gene . OMIM:603819 a owl:Class ; rdfs:label "SRA1" ; IAO:0000142 PMID:10199399, PMID:17011493 ; - oboInOwl:hasDbXref UMLS:C1420394 ; oboInOwl:hasExactSynonym "SRA1", "sra", "steroid receptor RNA activator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10011 ; - skos:exactMatch HGNC_symbol:SRA1 ; + skos:exactMatch UMLS:C1420394, + HGNC:11281, + HGNC_symbol:SRA1 ; biolink:category biolink:Gene . OMIM:603820 a owl:Class ; @@ -179611,14 +185312,15 @@ OMIM:603820 a owl:Class ; PMID:19630535, PMID:25043059, PMID:9344866 ; - oboInOwl:hasDbXref UMLS:C1825292 ; oboInOwl:hasExactSynonym "FFAR1", "free fatty acid receptor 1", "g protein-coupled receptor 40", "r10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2864 ; - skos:exactMatch HGNC_symbol:FFAR1 ; + skos:exactMatch UMLS:C1825292, + HGNC:4498, + HGNC_symbol:FFAR1 ; biolink:category biolink:Gene . OMIM:603821 a owl:Class ; @@ -179632,25 +185334,27 @@ OMIM:603821 a owl:Class ; PMID:28883043, PMID:32108090, PMID:9344866 ; - oboInOwl:hasDbXref UMLS:C1825294 ; oboInOwl:hasExactSynonym "FFAR3", "free fatty acid receptor 3", "g protein-coupled receptor 41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2865 ; - skos:exactMatch HGNC_symbol:FFAR3 ; + skos:exactMatch UMLS:C1825294, + HGNC:4499, + HGNC_symbol:FFAR3 ; biolink:category biolink:Gene . OMIM:603822 a owl:Class ; rdfs:label "GPR42" ; IAO:0000142 PMID:19630535, PMID:9344866 ; - oboInOwl:hasDbXref UMLS:C1415236 ; oboInOwl:hasExactSynonym "GPR42", "g protein-coupled receptor 42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2866 ; - skos:exactMatch HGNC_symbol:GPR42 ; + skos:exactMatch UMLS:C1415236, + HGNC:4500, + HGNC_symbol:GPR42 ; biolink:category biolink:Gene . OMIM:603823 a owl:Class ; @@ -179666,13 +185370,14 @@ OMIM:603823 a owl:Class ; PMID:31917685, PMID:32108090, PMID:9344866 ; - oboInOwl:hasDbXref UMLS:C1825293 ; oboInOwl:hasExactSynonym "FFAR2", "free fatty acid receptor 2", "g protein-coupled receptor 43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2867 ; - skos:exactMatch HGNC_symbol:FFAR2 ; + skos:exactMatch UMLS:C1825293, + HGNC:4501, + HGNC_symbol:FFAR2 ; biolink:category biolink:Gene . OMIM:603824 a owl:Class ; @@ -179704,13 +185409,14 @@ OMIM:603824 a owl:Class ; PMID:9305888 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:269921 ; - oboInOwl:hasDbXref UMLS:C1428183 ; oboInOwl:hasExactSynonym "GNE", "glcne", "udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10020 ; - skos:exactMatch HGNC_symbol:GNE ; + skos:exactMatch UMLS:C1428183, + HGNC:23657, + HGNC_symbol:GNE ; biolink:category biolink:Gene . OMIM:603825 a owl:Class ; @@ -179723,12 +185429,13 @@ OMIM:603825 a owl:Class ; PMID:18347096, PMID:8858348, PMID:9838134 ; - oboInOwl:hasDbXref UMLS:C1415544 ; oboInOwl:hasExactSynonym "HIC1", "hypermethylated 1n cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3090 ; - skos:exactMatch HGNC_symbol:HIC1 ; + skos:exactMatch UMLS:C1415544, + HGNC:4909, + HGNC_symbol:HIC1 ; biolink:category biolink:Gene . OMIM:603826 a owl:Class ; @@ -179761,7 +185468,6 @@ OMIM:603826 a owl:Class ; PMID:9223286 ; RO:0002525 CHR:9606chr12q23.1 ; RO:0003303 OMIM:617049 ; - oboInOwl:hasDbXref UMLS:C1417825 ; oboInOwl:hasExactSynonym "NR1H4", "bile acid receptor", "farnesoid x-activated receptor", @@ -179770,7 +185476,9 @@ OMIM:603826 a owl:Class ; "rxr-interacting protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9971 ; - skos:exactMatch HGNC_symbol:NR1H4 ; + skos:exactMatch UMLS:C1417825, + HGNC:7967, + HGNC_symbol:NR1H4 ; biolink:category biolink:Gene . OMIM:603827 a owl:Class ; @@ -179795,20 +185503,21 @@ OMIM:603827 a owl:Class ; PMID:22628193, PMID:27525555, PMID:9430630 ; - oboInOwl:hasDbXref UMLS:C1337096 ; oboInOwl:hasExactSynonym "BCL2L11", "bcl2-interacting protein bim", "bcl2-like 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10018 ; - skos:exactMatch HGNC_symbol:BCL2L11 ; + skos:exactMatch UMLS:C1337096, + HGNC:994, + HGNC_symbol:BCL2L11 ; biolink:category biolink:Gene . OMIM:603828 a owl:Class ; rdfs:label "brittle bone disorder" ; IAO:0000142 PMID:10340645 ; - oboInOwl:hasDbXref UMLS:C1859069 ; - oboInOwl:hasExactSynonym "brittle bone disorder" . + oboInOwl:hasExactSynonym "brittle bone disorder" ; + skos:exactMatch UMLS:C1859069 . OMIM:603830 a owl:Class ; rdfs:label "long qt syndrome 3" ; @@ -179826,16 +185535,16 @@ OMIM:603830 a owl:Class ; PMID:7956363, PMID:8541846, PMID:9753711 ; - oboInOwl:hasDbXref UMLS:C1838527, - UMLS:C1859062, - UMLS:C3276240, - UMLS:C3276241 ; oboInOwl:hasExactSynonym "LQT3", "long qt syndrome 2/3, digenic", "long qt syndrome 3", "long qt syndrome 3, acquired, susceptibility to", "long qt syndrome 3/6, digenic" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C1838527, + UMLS:C1859062, + UMLS:C3276240, + UMLS:C3276241 ; biolink:category biolink:Disease . OMIM:603831 a owl:Class ; @@ -179849,7 +185558,6 @@ OMIM:603831 a owl:Class ; PMID:9374845, PMID:9461128, PMID:9924606 ; - oboInOwl:hasDbXref UMLS:C1418448 ; oboInOwl:hasExactSynonym "PDZK1", "c-terminal linking and modulating protein", "cftr-associated protein, 70-kd", @@ -179857,19 +185565,22 @@ OMIM:603831 a owl:Class ; "pdzd1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5174 ; - skos:exactMatch HGNC_symbol:PDZK1 ; + skos:exactMatch UMLS:C1418448, + HGNC:8821, + HGNC_symbol:PDZK1 ; biolink:category biolink:Gene . OMIM:603832 a owl:Class ; rdfs:label "NDUFA3" ; IAO:0000142 PMID:9878551 ; - oboInOwl:hasDbXref UMLS:C1417623 ; oboInOwl:hasExactSynonym "NDUFA3", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex 3", "nadh-ubiquinone oxidoreductase subunit a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4696 ; - skos:exactMatch HGNC_symbol:NDUFA3 ; + skos:exactMatch UMLS:C1417623, + HGNC:7686, + HGNC_symbol:NDUFA3 ; biolink:category biolink:Gene . OMIM:603833 a owl:Class ; @@ -179880,8 +185591,6 @@ OMIM:603833 a owl:Class ; PMID:9352085 ; RO:0002525 CHR:9606chr7p21.3 ; RO:0003303 OMIM:619065 ; - oboInOwl:hasDbXref UMLS:C1417624, - UMLS:C5436727 ; oboInOwl:hasExactSynonym "COXFA4", "cytochrome c oxidase subunit fa4", "cytochrome c oxidase subunit ndufa4", @@ -179890,7 +185599,10 @@ OMIM:603833 a owl:Class ; "ndufa4 mitochondrial complex associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4697 ; - skos:exactMatch HGNC_symbol:NDUFA4 ; + skos:exactMatch UMLS:C1417624, + UMLS:C5436727, + HGNC:7687, + HGNC_symbol:NDUFA4 ; biolink:category biolink:Gene . OMIM:603834 a owl:Class ; @@ -179901,13 +185613,14 @@ OMIM:603834 a owl:Class ; PMID:8486360 ; RO:0002525 CHR:9606chr12p13.32 ; RO:0003303 OMIM:618247 ; - oboInOwl:hasDbXref UMLS:C1417630 ; oboInOwl:hasExactSynonym "NDUFA9", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex 9", "nadh-ubiquinone oxidoreductase subunit a9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4704 ; - skos:exactMatch HGNC_symbol:NDUFA9 ; + skos:exactMatch UMLS:C1417630, + HGNC:7693, + HGNC_symbol:NDUFA9 ; biolink:category biolink:Gene . OMIM:603835 a owl:Class ; @@ -179920,13 +185633,14 @@ OMIM:603835 a owl:Class ; PMID:9878551 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:618243 ; - oboInOwl:hasDbXref UMLS:C1417621 ; oboInOwl:hasExactSynonym "NDUFA10", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex 10", "nadh-ubiquinone oxidoreductase subunit a10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4705 ; - skos:exactMatch HGNC_symbol:NDUFA10 ; + skos:exactMatch UMLS:C1417621, + HGNC:7684, + HGNC_symbol:NDUFA10 ; biolink:category biolink:Gene . OMIM:603836 a owl:Class ; @@ -179937,37 +185651,40 @@ OMIM:603836 a owl:Class ; PMID:27626371, PMID:9763677, PMID:9878551 ; - oboInOwl:hasDbXref UMLS:C1417631 ; oboInOwl:hasExactSynonym "NDUFAB1", "acyl carrier protein, mitochondrial", "nadh-ubiquinone oxidoreductase 1 alpha/beta subcomplex, 1", "nadh-ubiquinone oxidoreductase subunit ab1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4706 ; - skos:exactMatch HGNC_symbol:NDUFAB1 ; + skos:exactMatch UMLS:C1417631, + HGNC:7694, + HGNC_symbol:NDUFAB1 ; biolink:category biolink:Gene . OMIM:603837 a owl:Class ; rdfs:label "NDUFB1" ; IAO:0000142 PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1417632 ; oboInOwl:hasExactSynonym "NDUFB1", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 1", "nadh-ubiquinone oxidoreductase subunit b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4707 ; - skos:exactMatch HGNC_symbol:NDUFB1 ; + skos:exactMatch UMLS:C1417632, + HGNC:7695, + HGNC_symbol:NDUFB1 ; biolink:category biolink:Gene . OMIM:603838 a owl:Class ; rdfs:label "NDUFB2" ; IAO:0000142 PMID:9878551 ; - oboInOwl:hasDbXref UMLS:C1417634 ; oboInOwl:hasExactSynonym "NDUFB2", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4708 ; - skos:exactMatch HGNC_symbol:NDUFB2 ; + skos:exactMatch UMLS:C1417634, + HGNC:7697, + HGNC_symbol:NDUFB2 ; biolink:category biolink:Gene . OMIM:603839 a owl:Class ; @@ -179979,37 +185696,40 @@ OMIM:603839 a owl:Class ; PMID:9425316 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:618246 ; - oboInOwl:hasDbXref UMLS:C1417635 ; oboInOwl:hasExactSynonym "NDUFB3", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 3", "nadh-ubiquinone oxidoreductase subunit b3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4709 ; - skos:exactMatch HGNC_symbol:NDUFB3 ; + skos:exactMatch UMLS:C1417635, + HGNC:7698, + HGNC_symbol:NDUFB3 ; biolink:category biolink:Gene . OMIM:603840 a owl:Class ; rdfs:label "NDUFB4" ; IAO:0000142 PMID:9878551 ; - oboInOwl:hasDbXref UMLS:C1417636 ; oboInOwl:hasExactSynonym "NDUFB4", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 4", "nadh-ubiquinone oxidoreductase subunit b4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4710 ; - skos:exactMatch HGNC_symbol:NDUFB4 ; + skos:exactMatch UMLS:C1417636, + HGNC:7699, + HGNC_symbol:NDUFB4 ; biolink:category biolink:Gene . OMIM:603841 a owl:Class ; rdfs:label "NDUFB5" ; IAO:0000142 PMID:9425316 ; - oboInOwl:hasDbXref UMLS:C1417637 ; oboInOwl:hasExactSynonym "NDUFB5", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 5", "nadh-ubiquinone oxidoreductase subunit b5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4711 ; - skos:exactMatch HGNC_symbol:NDUFB5 ; + skos:exactMatch UMLS:C1417637, + HGNC:7700, + HGNC_symbol:NDUFB5 ; biolink:category biolink:Gene . OMIM:603842 a owl:Class ; @@ -180020,13 +185740,14 @@ OMIM:603842 a owl:Class ; PMID:2302251, PMID:9763677, PMID:9878551 ; - oboInOwl:hasDbXref UMLS:C1417639 ; oboInOwl:hasExactSynonym "NDUFB7", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 7 sqm1", "nadh-ubiquinone oxidoreductase subunit b7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4713 ; - skos:exactMatch HGNC_symbol:NDUFB7 ; + skos:exactMatch UMLS:C1417639, + HGNC:7702, + HGNC_symbol:NDUFB7 ; biolink:category biolink:Gene . OMIM:603843 a owl:Class ; @@ -180037,14 +185758,15 @@ OMIM:603843 a owl:Class ; PMID:9878551 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:619003 ; - oboInOwl:hasDbXref UMLS:C1417633, - UMLS:C5436576 ; oboInOwl:hasExactSynonym "NDUFB10", "nadh-ubiquinone oxidoreductase 1 beta subcomplex, 10", "nadh-ubiquinone oxidoreductase subunit b10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4716 ; - skos:exactMatch HGNC_symbol:NDUFB10 ; + skos:exactMatch UMLS:C1417633, + UMLS:C5436576, + HGNC:7696, + HGNC_symbol:NDUFB10 ; biolink:category biolink:Gene . OMIM:603844 a owl:Class ; @@ -180053,13 +185775,14 @@ OMIM:603844 a owl:Class ; PMID:9425316, PMID:9653160, PMID:9763677 ; - oboInOwl:hasDbXref UMLS:C1417642 ; oboInOwl:hasExactSynonym "NDUFC1", "nadh-ubiquinone oxidoreductase 1, subunit c1", "nadh-ubiquinone oxidoreductase subunit c1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4717 ; - skos:exactMatch HGNC_symbol:NDUFC1 ; + skos:exactMatch UMLS:C1417642, + HGNC:7705, + HGNC_symbol:NDUFC1 ; biolink:category biolink:Gene . OMIM:603845 a owl:Class ; @@ -180068,13 +185791,14 @@ OMIM:603845 a owl:Class ; PMID:9878551 ; RO:0002525 CHR:9606chr11q14.1 ; RO:0003303 OMIM:619170 ; - oboInOwl:hasDbXref UMLS:C1417643 ; oboInOwl:hasExactSynonym "NDUFC2", "nadh-ubiquinone oxidoreductase 1, subunit c2", "nadh-ubiquinone oxidoreductase subunit c2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4718 ; - skos:exactMatch HGNC_symbol:NDUFC2 ; + skos:exactMatch UMLS:C1417643, + HGNC:7706, + HGNC_symbol:NDUFC2 ; biolink:category biolink:Gene . OMIM:603846 a owl:Class ; @@ -180088,13 +185812,14 @@ OMIM:603846 a owl:Class ; PMID:9763677 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:618230 ; - oboInOwl:hasDbXref UMLS:C1417646 ; oboInOwl:hasExactSynonym "NDUFS3", "complex i, mitochondrial respiratory chain, 30-kd subunit", "nadh-ubiquinone oxidoreductase fe-s protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4722 ; - skos:exactMatch HGNC_symbol:NDUFS3 ; + skos:exactMatch UMLS:C1417646, + HGNC:7710, + HGNC_symbol:NDUFS3 ; biolink:category biolink:Gene . OMIM:603847 a owl:Class ; @@ -180103,13 +185828,14 @@ OMIM:603847 a owl:Class ; PMID:10330338, PMID:9653160, PMID:9763677 ; - oboInOwl:hasDbXref UMLS:C1417648 ; oboInOwl:hasExactSynonym "NDUFS5", "complex i, mitochondrial respiratory chain, 15-kd subunit", "nadh-ubiquinone oxidoreductase fe-s protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4725 ; - skos:exactMatch HGNC_symbol:NDUFS5 ; + skos:exactMatch UMLS:C1417648, + HGNC:7712, + HGNC_symbol:NDUFS5 ; biolink:category biolink:Gene . OMIM:603848 a owl:Class ; @@ -180121,13 +185847,14 @@ OMIM:603848 a owl:Class ; PMID:9763677 ; RO:0002525 CHR:9606chr5p15.33 ; RO:0003303 OMIM:618232 ; - oboInOwl:hasDbXref UMLS:C1417649 ; oboInOwl:hasExactSynonym "NDUFS6", "complex i, mitochondrial respiratory chain, 13-kd subunit", "nadh-ubiquinone oxidoreductase fe-s protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4726 ; - skos:exactMatch HGNC_symbol:NDUFS6 ; + skos:exactMatch UMLS:C1417649, + HGNC:7713, + HGNC_symbol:NDUFS6 ; biolink:category biolink:Gene . OMIM:603849 a owl:Class ; @@ -180142,13 +185869,14 @@ OMIM:603849 a owl:Class ; PMID:8047143, PMID:9394001, PMID:9628820 ; - oboInOwl:hasDbXref UMLS:C1417831 ; oboInOwl:hasExactSynonym "NR2E1", "nuclear receptor subfamily 2, group e, member 1", "tailless, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7101 ; - skos:exactMatch HGNC_symbol:NR2E1 ; + skos:exactMatch UMLS:C1417831, + HGNC:7973, + HGNC_symbol:NR2E1 ; biolink:category biolink:Gene . OMIM:603850 a owl:Class ; @@ -180195,10 +185923,6 @@ OMIM:603850 a owl:Class ; PMID:9915810 ; RO:0002525 CHR:9606chr12p11.21 ; RO:0003303 OMIM:610708 ; - oboInOwl:hasDbXref UMLS:C1414119, - UMLS:C1853139, - UMLS:C3280660, - UMLS:C4310912 ; oboInOwl:hasExactSynonym "DNM1L", "dynamin 1-like", "dynamin family member, proline-rich c-terminal domain-less", @@ -180207,7 +185931,12 @@ OMIM:603850 a owl:Class ; "s. cerevisiae dnm1/vps1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10059 ; - skos:exactMatch HGNC_symbol:DNM1L ; + skos:exactMatch UMLS:C1414119, + UMLS:C1853139, + UMLS:C3280660, + UMLS:C4310912, + HGNC:2973, + HGNC_symbol:DNM1L ; biolink:category biolink:Gene . OMIM:603851 a owl:Class ; @@ -180242,19 +185971,20 @@ OMIM:603851 a owl:Class ; PMID:9516825 ; RO:0002525 CHR:9606chr4p13 ; RO:0003303 OMIM:613013 ; - oboInOwl:hasDbXref UMLS:C1275808, - UMLS:C1418697, - UMLS:C1859049, - UMLS:C1859050, - UMLS:C2751682, - UMLS:C2751683 ; oboInOwl:hasExactSynonym "PHOX2B", "neuroblastoma paired-type homeobox gene", "paired mesoderm homeobox 2b", "paired-like homeobox 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8929 ; - skos:exactMatch HGNC_symbol:PHOX2B ; + skos:exactMatch UMLS:C1275808, + UMLS:C1418697, + UMLS:C1859049, + UMLS:C1859050, + UMLS:C2751682, + UMLS:C2751683, + HGNC:9143, + HGNC_symbol:PHOX2B ; biolink:category biolink:Gene . OMIM:603852 a owl:Class ; @@ -180262,13 +185992,14 @@ OMIM:603852 a owl:Class ; IAO:0000142 PMID:10072438, PMID:8469989, PMID:9403053 ; - oboInOwl:hasDbXref UMLS:C1336686 ; oboInOwl:hasExactSynonym "TSSC4", "tumor-suppressing stf cdna 4", "tumor-suppressing subchromosomal transferable fragment candidate gene 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10078 ; - skos:exactMatch HGNC_symbol:TSSC4 ; + skos:exactMatch UMLS:C1336686, + HGNC:12386, + HGNC_symbol:TSSC4 ; biolink:category biolink:Gene . OMIM:603853 a owl:Class ; @@ -180279,7 +186010,6 @@ OMIM:603853 a owl:Class ; PMID:12077330, PMID:8469989, PMID:9403053 ; - oboInOwl:hasDbXref UMLS:C1335209 ; oboInOwl:hasExactSynonym "TSPAN32", "aml1-regulated transmembrane protein 1", "pan-hematopoietic expression gene", @@ -180288,7 +186018,9 @@ OMIM:603853 a owl:Class ; "tumor-suppressing subchromosomal transferable fragment candidate gene 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10077 ; - skos:exactMatch HGNC_symbol:TSPAN32 ; + skos:exactMatch UMLS:C1335209, + HGNC:13410, + HGNC_symbol:TSPAN32 ; biolink:category biolink:Gene . OMIM:603854 a owl:Class ; @@ -180298,13 +186030,14 @@ OMIM:603854 a owl:Class ; PMID:14684163, PMID:18222118, PMID:9817760 ; - oboInOwl:hasDbXref UMLS:C1422166 ; oboInOwl:hasExactSynonym "RANBP9", "ran-binding protein 9", "ranbpm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10048 ; - skos:exactMatch HGNC_symbol:RANBP9 ; + skos:exactMatch UMLS:C1422166, + HGNC:13727, + HGNC_symbol:RANBP9 ; biolink:category biolink:Gene . OMIM:603856 a owl:Class ; @@ -180318,24 +186051,25 @@ OMIM:603856 a owl:Class ; PMID:9613204 ; RO:0002525 CHR:9606chr15q11.2 ; RO:0003303 OMIM:615346 ; - oboInOwl:hasDbXref UMLS:C1417179 ; oboInOwl:hasExactSynonym "MKRN3", "makorin 3", "zinc finger protein 127" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7681 ; - skos:exactMatch HGNC_symbol:MKRN3 ; + skos:exactMatch UMLS:C1417179, + HGNC:7114, + HGNC_symbol:MKRN3 ; biolink:category biolink:Gene . OMIM:603857 a owl:Class ; rdfs:label "MKRN3AS" ; IAO:0000142 PMID:10196367 ; - oboInOwl:hasDbXref UMLS:C1421618 ; oboInOwl:hasExactSynonym "MKRN3AS", "mkrn3 antisense RNA", "zinc finger protein 127, antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10108 ; + skos:exactMatch UMLS:C1421618 ; biolink:category biolink:Gene . OMIM:603858 a owl:Class ; @@ -180356,13 +186090,14 @@ OMIM:603859 a owl:Class ; PMID:18367750 ; RO:0002525 CHR:9606chr7q21.3 ; RO:0003303 OMIM:605814 ; - oboInOwl:hasDbXref UMLS:C1420154 ; oboInOwl:hasExactSynonym "SLC25A13", "citrin", "solute carrier family 25 (citrin), member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10165 ; - skos:exactMatch HGNC_symbol:SLC25A13 ; + skos:exactMatch UMLS:C1420154, + HGNC:10983, + HGNC_symbol:SLC25A13 ; biolink:category biolink:Gene . OMIM:603860 a owl:Class ; @@ -180381,13 +186116,14 @@ OMIM:603861 a owl:Class ; PMID:3407856 ; RO:0002525 CHR:9606chr13q14.11 ; RO:0003303 OMIM:238970 ; - oboInOwl:hasDbXref UMLS:C1420156 ; oboInOwl:hasExactSynonym "SLC25A15", "ornithine transporter, mitochondrial, 1", "solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10166 ; - skos:exactMatch HGNC_symbol:SLC25A15 ; + skos:exactMatch UMLS:C1420156, + HGNC:10985, + HGNC_symbol:SLC25A15 ; biolink:category biolink:Gene . OMIM:603862 a owl:Class ; @@ -180395,19 +186131,19 @@ OMIM:603862 a owl:Class ; IAO:0000142 PMID:11713532, PMID:11713533, PMID:9499409 ; - oboInOwl:hasDbXref UMLS:C1413186 ; oboInOwl:hasExactSynonym "CCNT2", "cyclin t2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:905 ; - skos:exactMatch HGNC_symbol:CCNT2 ; + skos:exactMatch UMLS:C1413186, + HGNC:1600, + HGNC_symbol:CCNT2 ; biolink:category biolink:Gene . OMIM:603863 a owl:Class ; rdfs:label "RNF7" ; IAO:0000142 PMID:10082581, PMID:10230407 ; - oboInOwl:hasDbXref UMLS:C1419428 ; oboInOwl:hasExactSynonym "RNF7", "rbx2", "regulator of cullins 2", @@ -180415,7 +186151,9 @@ OMIM:603863 a owl:Class ; "sensitive to apoptosis gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9616 ; - skos:exactMatch HGNC_symbol:RNF7 ; + skos:exactMatch UMLS:C1419428, + HGNC:10070, + HGNC_symbol:RNF7 ; biolink:category biolink:Gene . OMIM:603864 a owl:Class ; @@ -180428,25 +186166,27 @@ OMIM:603864 a owl:Class ; PMID:22508683, PMID:9295278, PMID:9726962 ; - oboInOwl:hasDbXref UMLS:C1413192 ; oboInOwl:hasExactSynonym "CCS", "copper chaperone for superoxide dismutase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9973 ; - skos:exactMatch HGNC_symbol:CCS ; + skos:exactMatch UMLS:C1413192, + HGNC:1613, + HGNC_symbol:CCS ; biolink:category biolink:Gene . OMIM:603865 a owl:Class ; rdfs:label "GFPT2" ; IAO:0000142 PMID:10198162, PMID:14764791 ; - oboInOwl:hasDbXref UMLS:C1415047 ; oboInOwl:hasExactSynonym "GFPT2", "gfat2", "glutamine:fructose-6-phosphate amidotransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9945 ; - skos:exactMatch HGNC_symbol:GFPT2 ; + skos:exactMatch UMLS:C1415047, + HGNC:4242, + HGNC_symbol:GFPT2 ; biolink:category biolink:Gene . OMIM:603866 a owl:Class ; @@ -180454,13 +186194,14 @@ OMIM:603866 a owl:Class ; IAO:0000142 PMID:12417726, PMID:9714566, PMID:9792670 ; - oboInOwl:hasDbXref UMLS:C1418471 ; oboInOwl:hasExactSynonym "PEX11A", "peroxisome biogenesis factor 11a", "pex11-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8800 ; - skos:exactMatch HGNC_symbol:PEX11A ; + skos:exactMatch UMLS:C1418471, + HGNC:8852, + HGNC_symbol:PEX11A ; biolink:category biolink:Gene . OMIM:603867 a owl:Class ; @@ -180472,14 +186213,15 @@ OMIM:603867 a owl:Class ; PMID:9826565 ; RO:0002525 CHR:9606chr1q21.1 ; RO:0003303 OMIM:614920 ; - oboInOwl:hasDbXref UMLS:C1418472, - UMLS:C3554055 ; oboInOwl:hasExactSynonym "PEX11B", "peroxisome biogenesis factor 11b", "pex11-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8799 ; - skos:exactMatch HGNC_symbol:PEX11B ; + skos:exactMatch UMLS:C1418472, + UMLS:C3554055, + HGNC:8853, + HGNC_symbol:PEX11B ; biolink:category biolink:Gene . OMIM:603868 a owl:Class ; @@ -180508,25 +186250,27 @@ OMIM:603868 a owl:Class ; PMID:9207796 ; RO:0002525 CHR:9606chr15q21.3 ; RO:0003303 OMIM:607624 ; - oboInOwl:hasDbXref UMLS:C1419195 ; oboInOwl:hasExactSynonym "RAB27A", "rab27", "ras-associated protein rab27a", "ras-related gene from megakaryocyte" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5873 ; - skos:exactMatch HGNC_symbol:RAB27A ; + skos:exactMatch UMLS:C1419195, + HGNC:9766, + HGNC_symbol:RAB27A ; biolink:category biolink:Gene . OMIM:603869 a owl:Class ; rdfs:label "RAB27B" ; IAO:0000142 PMID:9066979 ; - oboInOwl:hasDbXref UMLS:C1419196 ; oboInOwl:hasExactSynonym "RAB27B", "ras-associated protein rab27b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5874 ; - skos:exactMatch HGNC_symbol:RAB27B ; + skos:exactMatch UMLS:C1419196, + HGNC:9767, + HGNC_symbol:RAB27B ; biolink:category biolink:Gene . OMIM:603870 a owl:Class ; @@ -180542,7 +186286,6 @@ OMIM:603870 a owl:Class ; PMID:24980046, PMID:9596646, PMID:9790752 ; - oboInOwl:hasDbXref UMLS:C1413149 ; oboInOwl:hasExactSynonym "CBFA2T3", "core-binding factor, alpha subunit 2, translocated to, 3", "eto2", @@ -180551,7 +186294,9 @@ OMIM:603870 a owl:Class ; "zinc finger mynd domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:863 ; - skos:exactMatch HGNC_symbol:CBFA2T3 ; + skos:exactMatch UMLS:C1413149, + HGNC:1537, + HGNC_symbol:CBFA2T3 ; biolink:category biolink:Gene . OMIM:603871 a owl:Class ; @@ -180560,7 +186305,6 @@ OMIM:603871 a owl:Class ; PMID:29875412, PMID:9560222, PMID:9925933 ; - oboInOwl:hasDbXref UMLS:C1412858 ; oboInOwl:hasExactSynonym "BYSL", "by the ribosomal protein s6 gene, drosophila, homolog-like", "bystin", @@ -180568,7 +186312,9 @@ OMIM:603871 a owl:Class ; "enp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:705 ; - skos:exactMatch HGNC_symbol:BYSL ; + skos:exactMatch UMLS:C1412858, + HGNC:1157, + HGNC_symbol:BYSL ; biolink:category biolink:Gene . OMIM:603872 a owl:Class ; @@ -180577,14 +186323,15 @@ OMIM:603872 a owl:Class ; PMID:7758945, PMID:9560222, PMID:9925933 ; - oboInOwl:hasDbXref UMLS:C1421164 ; oboInOwl:hasExactSynonym "TROAP", "tastin", "trophinin-assisting protein", "trophinin-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10024 ; - skos:exactMatch HGNC_symbol:TROAP ; + skos:exactMatch UMLS:C1421164, + HGNC:12327, + HGNC_symbol:TROAP ; biolink:category biolink:Gene . OMIM:603873 a owl:Class ; @@ -180597,27 +186344,29 @@ OMIM:603873 a owl:Class ; PMID:9931468 ; RO:0002525 CHR:9606chr9p21.2 ; RO:0003303 OMIM:617527 ; - oboInOwl:hasDbXref UMLS:C1418627, - UMLS:C4479631 ; oboInOwl:hasExactSynonym "PLAA", "phospholipase a2-activating protein", "plap" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9373 ; - skos:exactMatch HGNC_symbol:PLAA ; + skos:exactMatch UMLS:C1418627, + UMLS:C4479631, + HGNC:9043, + HGNC_symbol:PLAA ; biolink:category biolink:Gene . OMIM:603874 a owl:Class ; rdfs:label "ANGPTL1" ; IAO:0000142 PMID:10025962, PMID:22660330 ; - oboInOwl:hasDbXref UMLS:C1412399 ; oboInOwl:hasExactSynonym "ANGPTL1", "angiopoietin 3, formerly", "angiopoietin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9068 ; - skos:exactMatch HGNC_symbol:ANGPTL1 ; + skos:exactMatch UMLS:C1412399, + HGNC:489, + HGNC_symbol:ANGPTL1 ; biolink:category biolink:Gene . OMIM:603875 a owl:Class ; @@ -180626,14 +186375,15 @@ OMIM:603875 a owl:Class ; PMID:16964309, PMID:8391931, PMID:9349718 ; - oboInOwl:hasDbXref UMLS:C1420820 ; oboInOwl:hasExactSynonym "TNFSF8", "cd153", "cd30 ligand", "tumor necrosis factor ligand superfamily, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:944 ; - skos:exactMatch HGNC_symbol:TNFSF8 ; + skos:exactMatch UMLS:C1420820, + HGNC:11938, + HGNC_symbol:TNFSF8 ; biolink:category biolink:Gene . OMIM:603876 a owl:Class ; @@ -180643,13 +186393,14 @@ OMIM:603876 a owl:Class ; PMID:10464288, PMID:12528112, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1412210 ; oboInOwl:hasExactSynonym "ADAMTS4", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 4", "aggrecanase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9507 ; - skos:exactMatch HGNC_symbol:ADAMTS4 ; + skos:exactMatch UMLS:C1412210, + HGNC:220, + HGNC_symbol:ADAMTS4 ; biolink:category biolink:Gene . OMIM:603877 a owl:Class ; @@ -180657,13 +186408,14 @@ OMIM:603877 a owl:Class ; IAO:0000142 PMID:10493836, PMID:18690214, PMID:9425115 ; - oboInOwl:hasDbXref UMLS:C1420104 ; oboInOwl:hasExactSynonym "SLC16A3", "monocarboxylate transporter 4", "solute carrier family 16 (monocarboxylic acid transporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9123 ; - skos:exactMatch HGNC_symbol:SLC16A3 ; + skos:exactMatch UMLS:C1420104, + HGNC:10924, + HGNC_symbol:SLC16A3 ; biolink:category biolink:Gene . OMIM:603878 a owl:Class ; @@ -180671,13 +186423,14 @@ OMIM:603878 a owl:Class ; IAO:0000142 PMID:10493836, PMID:23103869, PMID:9425115 ; - oboInOwl:hasDbXref UMLS:C1420105 ; oboInOwl:hasExactSynonym "SLC16A4", "monocarboxylate transporter 5", "solute carrier family 16 (monocarboxylic acid transporter), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9122 ; - skos:exactMatch HGNC_symbol:SLC16A4 ; + skos:exactMatch UMLS:C1420105, + HGNC:10925, + HGNC_symbol:SLC16A4 ; biolink:category biolink:Gene . OMIM:603879 a owl:Class ; @@ -180685,26 +186438,28 @@ OMIM:603879 a owl:Class ; IAO:0000142 PMID:10493836, PMID:3888071, PMID:9425115 ; - oboInOwl:hasDbXref UMLS:C1420106 ; oboInOwl:hasExactSynonym "SLC16A5", "monocarboxylate transporter 6", "solute carrier family 16 (monocarboxylic acid transporter), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9121 ; - skos:exactMatch HGNC_symbol:SLC16A5 ; + skos:exactMatch UMLS:C1420106, + HGNC:10926, + HGNC_symbol:SLC16A5 ; biolink:category biolink:Gene . OMIM:603880 a owl:Class ; rdfs:label "SLC16A6" ; IAO:0000142 PMID:10493836, PMID:9425115 ; - oboInOwl:hasDbXref UMLS:C1420107 ; oboInOwl:hasExactSynonym "SLC16A6", "monocarboxylate transporter 7", "solute carrier family 16 (monocarboxylic acid transporter), member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9120 ; - skos:exactMatch HGNC_symbol:SLC16A6 ; + skos:exactMatch UMLS:C1420107, + HGNC:10927, + HGNC_symbol:SLC16A6 ; biolink:category biolink:Gene . OMIM:603881 a owl:Class ; @@ -180717,7 +186472,6 @@ OMIM:603881 a owl:Class ; PMID:8114692, PMID:9742082, PMID:9783588 ; - oboInOwl:hasDbXref UMLS:C1417827 ; oboInOwl:hasExactSynonym "NR1I3", "car", "car-beta", @@ -180726,19 +186480,22 @@ OMIM:603881 a owl:Class ; "nuclear receptor subfamily 1, group i, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9970 ; - skos:exactMatch HGNC_symbol:NR1I3 ; + skos:exactMatch UMLS:C1417827, + HGNC:7969, + HGNC_symbol:NR1I3 ; biolink:category biolink:Gene . OMIM:603882 a owl:Class ; rdfs:label "BAG2" ; IAO:0000142 PMID:9873016 ; - oboInOwl:hasDbXref UMLS:C1412730 ; oboInOwl:hasExactSynonym "BAG2", "bag cochaperone 2", "bcl2-associated athanogene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9532 ; - skos:exactMatch HGNC_symbol:BAG2 ; + skos:exactMatch UMLS:C1412730, + HGNC:938, + HGNC_symbol:BAG2 ; biolink:category biolink:Gene . OMIM:603883 a owl:Class ; @@ -180757,12 +186514,13 @@ OMIM:603883 a owl:Class ; PMID:9915703 ; RO:0002525 CHR:9606chr10q26.11 ; RO:0003303 OMIM:612954 ; - oboInOwl:hasDbXref UMLS:C1412731 ; oboInOwl:hasExactSynonym "BAG3", "bcl2-associated athanogene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9531 ; - skos:exactMatch HGNC_symbol:BAG3 ; + skos:exactMatch UMLS:C1412731, + HGNC:939, + HGNC_symbol:BAG3 ; biolink:category biolink:Gene . OMIM:603884 a owl:Class ; @@ -180772,14 +186530,15 @@ OMIM:603884 a owl:Class ; PMID:24270810, PMID:9873016, PMID:9915703 ; - oboInOwl:hasDbXref UMLS:C1332372 ; oboInOwl:hasExactSynonym "BAG4", "bag cochaperone 4", "bcl2-associated athanogene 4", "silencer of death domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9530 ; - skos:exactMatch HGNC_symbol:BAG4 ; + skos:exactMatch UMLS:C1332372, + HGNC:940, + HGNC_symbol:BAG4 ; biolink:category biolink:Gene . OMIM:603885 a owl:Class ; @@ -180788,13 +186547,14 @@ OMIM:603885 a owl:Class ; PMID:9873016 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:619747 ; - oboInOwl:hasDbXref UMLS:C1332373 ; oboInOwl:hasExactSynonym "BAG5", "bag cochaperone 5", "bcl2-associated athanogene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9529 ; - skos:exactMatch HGNC_symbol:BAG5 ; + skos:exactMatch UMLS:C1332373, + HGNC:941, + HGNC_symbol:BAG5 ; biolink:category biolink:Gene . OMIM:603886 a owl:Class ; @@ -180802,14 +186562,15 @@ OMIM:603886 a owl:Class ; IAO:0000142 PMID:12160745, PMID:14528299, PMID:9883723 ; - oboInOwl:hasDbXref UMLS:C1412566 ; oboInOwl:hasExactSynonym "ARTN", "artemin", "enovin", "neublastin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9048 ; - skos:exactMatch HGNC_symbol:ARTN ; + skos:exactMatch UMLS:C1412566, + HGNC:727, + HGNC_symbol:ARTN ; biolink:category biolink:Gene . OMIM:603887 a owl:Class ; @@ -180828,51 +186589,55 @@ OMIM:603887 a owl:Class ; PMID:9856465, PMID:9856466, PMID:9891984 ; - oboInOwl:hasDbXref UMLS:C1420737 ; oboInOwl:hasExactSynonym "TIMELESS", "tim", "timeless circadian regulator", "timeless, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8914 ; - skos:exactMatch HGNC_symbol:TIMELESS ; + skos:exactMatch UMLS:C1420737, + HGNC:11813, + HGNC_symbol:TIMELESS ; biolink:category biolink:Gene . OMIM:603888 a owl:Class ; rdfs:label "KCNS3" ; IAO:0000142 PMID:15714333, PMID:9704029 ; - oboInOwl:hasDbXref UMLS:C1416620 ; oboInOwl:hasExactSynonym "KCNS3", "potassium channel, voltage-gated, delayed-rectifier, subfamily s, member 3", "voltage-gated potassium channel 9.3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3790 ; - skos:exactMatch HGNC_symbol:KCNS3 ; + skos:exactMatch UMLS:C1416620, + HGNC:6302, + HGNC_symbol:KCNS3 ; biolink:category biolink:Gene . OMIM:603889 a owl:Class ; rdfs:label "SIRPB1" ; IAO:0000142 PMID:9062191 ; - oboInOwl:hasDbXref UMLS:C1335826 ; oboInOwl:hasExactSynonym "SIRPB1", "signal regulatory protein, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10326 ; - skos:exactMatch HGNC_symbol:SIRPB1 ; + skos:exactMatch UMLS:C1335826, + HGNC:15928, + HGNC_symbol:SIRPB1 ; biolink:category biolink:Gene . OMIM:603890 a owl:Class ; rdfs:label "UBE2L6" ; IAO:0000142 PMID:10894956, PMID:9153201 ; - oboInOwl:hasDbXref UMLS:C1421288 ; oboInOwl:hasExactSynonym "UBE2L6", "ubiquitin-conjugating enzyme e2l 6", "ubiquitin-conjugating enzyme ubch8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9246 ; - skos:exactMatch HGNC_symbol:UBE2L6 ; + skos:exactMatch UMLS:C1421288, + HGNC:12490, + HGNC_symbol:UBE2L6 ; biolink:category biolink:Gene . OMIM:603891 a owl:Class ; @@ -180882,12 +186647,13 @@ OMIM:603891 a owl:Class ; PMID:17314681, PMID:21436455, PMID:9931477 ; - oboInOwl:hasDbXref UMLS:C1414603 ; oboInOwl:hasExactSynonym "FGF19", "fibroblast growth factor 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9965 ; - skos:exactMatch HGNC_symbol:FGF19 ; + skos:exactMatch UMLS:C1414603, + HGNC:3675, + HGNC_symbol:FGF19 ; biolink:category biolink:Gene . OMIM:603892 a owl:Class ; @@ -180901,7 +186667,6 @@ OMIM:603892 a owl:Class ; PMID:9233818 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:610536 ; - oboInOwl:hasDbXref UMLS:C1825036 ; oboInOwl:hasExactSynonym "EFTUD2", "elongation factor tu gtp-binding domain-containing 2", "kiaa0031", @@ -180909,7 +186674,9 @@ OMIM:603892 a owl:Class ; "u5-116kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9343 ; - skos:exactMatch HGNC_symbol:EFTUD2 ; + skos:exactMatch UMLS:C1825036, + HGNC:30858, + HGNC_symbol:EFTUD2 ; biolink:category biolink:Gene . OMIM:603893 a owl:Class ; @@ -180917,13 +186684,14 @@ OMIM:603893 a owl:Class ; IAO:0000142 PMID:8608943, PMID:8710854, PMID:8855313 ; - oboInOwl:hasDbXref UMLS:C1823478 ; oboInOwl:hasExactSynonym "TANK", "traf family member-associated nf-kappa-b activator", "traf-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10010 ; - skos:exactMatch HGNC_symbol:TANK ; + skos:exactMatch UMLS:C1823478, + HGNC:11562, + HGNC_symbol:TANK ; biolink:category biolink:Gene . OMIM:603894 a owl:Class ; @@ -180933,36 +186701,39 @@ OMIM:603894 a owl:Class ; PMID:11829488, PMID:12761221, PMID:15375002 ; - oboInOwl:hasDbXref UMLS:C1419376 ; oboInOwl:hasExactSynonym "RGS6", "regulator of g protein signaling 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9628 ; - skos:exactMatch HGNC_symbol:RGS6 ; + skos:exactMatch UMLS:C1419376, + HGNC:10002, + HGNC_symbol:RGS6 ; biolink:category biolink:Gene . OMIM:603895 a owl:Class ; rdfs:label "RGS11" ; IAO:0000142 PMID:11829488, PMID:9789084 ; - oboInOwl:hasDbXref UMLS:C1419369 ; oboInOwl:hasExactSynonym "RGS11", "regulator of g protein signaling 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8786 ; - skos:exactMatch HGNC_symbol:RGS11 ; + skos:exactMatch UMLS:C1419369, + HGNC:9993, + HGNC_symbol:RGS11 ; biolink:category biolink:Gene . OMIM:603897 a owl:Class ; rdfs:label "MATN4" ; IAO:0000142 PMID:9027493, PMID:9827539 ; - oboInOwl:hasDbXref UMLS:C1417044 ; oboInOwl:hasExactSynonym "MATN4", "matrilin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8785 ; - skos:exactMatch HGNC_symbol:MATN4 ; + skos:exactMatch UMLS:C1417044, + HGNC:6910, + HGNC_symbol:MATN4 ; biolink:category biolink:Gene . OMIM:603898 a owl:Class ; @@ -180972,14 +186743,15 @@ OMIM:603898 a owl:Class ; PMID:15128759, PMID:17417651, PMID:9177197 ; - oboInOwl:hasDbXref UMLS:C1420818 ; oboInOwl:hasExactSynonym "TNFSF18", "aitr ligand", "gitr ligand", "tumor necrosis factor ligand superfamily, member 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8995 ; - skos:exactMatch HGNC_symbol:TNFSF18 ; + skos:exactMatch UMLS:C1420818, + HGNC:11932, + HGNC_symbol:TNFSF18 ; biolink:category biolink:Gene . OMIM:603899 a owl:Class ; @@ -180988,23 +186760,25 @@ OMIM:603899 a owl:Class ; PMID:2505992, PMID:8467795, PMID:9839802 ; - oboInOwl:hasDbXref UMLS:C1421843 ; oboInOwl:hasExactSynonym "ZNF85", "zinc finger protein 85" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7639 ; - skos:exactMatch HGNC_symbol:ZNF85 ; + skos:exactMatch UMLS:C1421843, + HGNC:13160, + HGNC_symbol:ZNF85 ; biolink:category biolink:Gene . OMIM:603900 a owl:Class ; rdfs:label "ZNF174" ; IAO:0000142 PMID:7673192 ; - oboInOwl:hasDbXref UMLS:C1421662 ; oboInOwl:hasExactSynonym "ZNF174", "zinc finger protein 174" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7727 ; - skos:exactMatch HGNC_symbol:ZNF174 ; + skos:exactMatch UMLS:C1421662, + HGNC:12963, + HGNC_symbol:ZNF174 ; biolink:category biolink:Gene . OMIM:603901 a owl:Class ; @@ -181015,13 +186789,14 @@ OMIM:603901 a owl:Class ; PMID:9763455 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:619321 ; - oboInOwl:hasDbXref UMLS:C1421745 ; oboInOwl:hasExactSynonym "ZPR1", "zinc finger protein 259", "zpr1 zinc finger protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8882 ; - skos:exactMatch HGNC_symbol:ZPR1 ; + skos:exactMatch UMLS:C1421745, + HGNC:13051, + HGNC_symbol:ZPR1 ; biolink:category biolink:Gene . OMIM:603902 a owl:Class ; @@ -181031,9 +186806,9 @@ OMIM:603902 a owl:Class ; PMID:3014870, PMID:4351905, PMID:4361439 ; - oboInOwl:hasDbXref UMLS:C1858990 ; oboInOwl:hasExactSynonym "beta-thalassemia, dominant inclusion body iia", "dyserythropoietic anemia, congenital, irish or weatherall iia" ; + skos:exactMatch UMLS:C1858990 ; biolink:category biolink:Disease . OMIM:603903 a owl:Class ; @@ -181120,8 +186895,8 @@ OMIM:603903 a owl:Class ; PMID:9616120, PMID:9746793, PMID:9843985 ; - oboInOwl:hasDbXref UMLS:C0002895 ; oboInOwl:hasExactSynonym "sickle cell anemia" ; + skos:exactMatch UMLS:C0002895 ; biolink:category biolink:Disease . OMIM:603904 a owl:Class ; @@ -181134,14 +186909,15 @@ OMIM:603904 a owl:Class ; PMID:24026677 ; RO:0002525 CHR:9606chr13q14.2 ; RO:0003303 OMIM:117300 ; - oboInOwl:hasDbXref UMLS:C1416512 ; oboInOwl:hasExactSynonym "ITM2B", "bri", "bri2", "integral membrane protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9445 ; - skos:exactMatch HGNC_symbol:ITM2B ; + skos:exactMatch UMLS:C1416512, + HGNC:6174, + HGNC_symbol:ITM2B ; biolink:category biolink:Gene . OMIM:603905 a owl:Class ; @@ -181151,14 +186927,15 @@ OMIM:603905 a owl:Class ; PMID:15128759, PMID:17417651, PMID:9177197 ; - oboInOwl:hasDbXref UMLS:C1420810 ; oboInOwl:hasExactSynonym "TNFRSF18", "activation-inducible tnfr family member", "glucocorticoid-induced tnfr-related gene", "tumor necrosis factor receptor superfamily, member 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8784 ; - skos:exactMatch HGNC_symbol:TNFRSF18 ; + skos:exactMatch UMLS:C1420810, + HGNC:11914, + HGNC_symbol:TNFRSF18 ; biolink:category biolink:Gene . OMIM:603906 a owl:Class ; @@ -181169,7 +186946,6 @@ OMIM:603906 a owl:Class ; PMID:17898169, PMID:9822685, PMID:9828122 ; - oboInOwl:hasDbXref UMLS:C1413447 ; oboInOwl:hasExactSynonym "CLCA1", "calcium-activated chloride channel 1", "chloride channel accessory 1", @@ -181177,7 +186953,9 @@ OMIM:603906 a owl:Class ; "gob5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1179 ; - skos:exactMatch HGNC_symbol:CLCA1 ; + skos:exactMatch UMLS:C1413447, + HGNC:2015, + HGNC_symbol:CLCA1 ; biolink:category biolink:Gene . OMIM:603907 a owl:Class ; @@ -181199,14 +186977,15 @@ OMIM:603907 a owl:Class ; PMID:31273097, PMID:3352609, PMID:7525581 ; - oboInOwl:hasDbXref UMLS:C1414334 ; oboInOwl:hasExactSynonym "EIF2S1", "eif2-alpha", "eukaryotic translation initiation factor 2, subunit 1", "eukaryotic translation initiation factor 2-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1965 ; - skos:exactMatch HGNC_symbol:EIF2S1 ; + skos:exactMatch UMLS:C1414334, + HGNC:3265, + HGNC_symbol:EIF2S1 ; biolink:category biolink:Gene . OMIM:603908 a owl:Class ; @@ -181215,13 +186994,14 @@ OMIM:603908 a owl:Class ; PMID:20485439, PMID:3044606, PMID:9933616 ; - oboInOwl:hasDbXref UMLS:C1414335 ; oboInOwl:hasExactSynonym "EIF2S2", "eukaryotic translation initiation factor 2, subunit 2", "eukaryotic translation initiation factor 2-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8894 ; - skos:exactMatch HGNC_symbol:EIF2S2 ; + skos:exactMatch UMLS:C1414335, + HGNC:3266, + HGNC_symbol:EIF2S2 ; biolink:category biolink:Gene . OMIM:603909 a owl:Class ; @@ -181229,10 +187009,10 @@ OMIM:603909 a owl:Class ; IAO:0000142 PMID:10412980, PMID:16446975, PMID:9028957 ; - oboInOwl:hasDbXref UMLS:C1858968 ; oboInOwl:hasExactSynonym "ALPS2A", "autoimmune lymphoproliferative syndrome, iia 2", "autoimmune lymphoproliferative syndrome, iia 2a" ; + skos:exactMatch UMLS:C1858968 ; biolink:category biolink:Disease . OMIM:603910 a owl:Class ; @@ -181241,7 +187021,6 @@ OMIM:603910 a owl:Class ; PMID:17588516, PMID:24185006, PMID:9822659 ; - oboInOwl:hasDbXref UMLS:C1414337 ; oboInOwl:hasExactSynonym "EIF3J", "eif3-alpha", "eif3-p35", @@ -181249,7 +187028,9 @@ OMIM:603910 a owl:Class ; "eukaryotic translation initiation factor 3, subunit j" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8669 ; - skos:exactMatch HGNC_symbol:EIF3J ; + skos:exactMatch UMLS:C1414337, + HGNC:3270, + HGNC_symbol:EIF3J ; biolink:category biolink:Gene . OMIM:603911 a owl:Class ; @@ -181257,7 +187038,6 @@ OMIM:603911 a owl:Class ; IAO:0000142 PMID:7566156, PMID:8995409, PMID:9599024 ; - oboInOwl:hasDbXref UMLS:C1414339 ; oboInOwl:hasExactSynonym "EIF3I", "eif3-beta", "eif3-p36", @@ -181266,7 +187046,9 @@ OMIM:603911 a owl:Class ; "tgf-beta receptor-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8668 ; - skos:exactMatch HGNC_symbol:EIF3I ; + skos:exactMatch UMLS:C1414339, + HGNC:3272, + HGNC_symbol:EIF3I ; biolink:category biolink:Gene . OMIM:603912 a owl:Class ; @@ -181275,7 +187057,6 @@ OMIM:603912 a owl:Class ; PMID:15616564, PMID:30232453, PMID:9341143 ; - oboInOwl:hasDbXref UMLS:C1414340 ; oboInOwl:hasExactSynonym "EIF3H", "eif3-gamma", "eif3-p40", @@ -181283,14 +187064,15 @@ OMIM:603912 a owl:Class ; "eukaryotic translation initiation factor 3, subunit h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8667 ; - skos:exactMatch HGNC_symbol:EIF3H ; + skos:exactMatch UMLS:C1414340, + HGNC:3273, + HGNC_symbol:EIF3H ; biolink:category biolink:Gene . OMIM:603913 a owl:Class ; rdfs:label "EIF3G" ; IAO:0000142 PMID:9822659, PMID:9973622 ; - oboInOwl:hasDbXref UMLS:C1414341 ; oboInOwl:hasExactSynonym "EIF3G", "eif3-p42", "eif3-p44", @@ -181298,7 +187080,9 @@ OMIM:603913 a owl:Class ; "eukaryotic translation initiation factor 3, subunit g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8666 ; - skos:exactMatch HGNC_symbol:EIF3G ; + skos:exactMatch UMLS:C1414341, + HGNC:3274, + HGNC_symbol:EIF3G ; biolink:category biolink:Gene . OMIM:603914 a owl:Class ; @@ -181307,42 +187091,45 @@ OMIM:603914 a owl:Class ; PMID:9341143 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:618295 ; - oboInOwl:hasDbXref UMLS:C1414342 ; oboInOwl:hasExactSynonym "EIF3F", "eif3-p47", "eukaryotic translation initiation factor 3, subunit 5, formerly", "eukaryotic translation initiation factor 3, subunit f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8665 ; - skos:exactMatch HGNC_symbol:EIF3F ; + skos:exactMatch UMLS:C1414342, + HGNC:3275, + HGNC_symbol:EIF3F ; biolink:category biolink:Gene . OMIM:603915 a owl:Class ; rdfs:label "EIF3D" ; IAO:0000142 PMID:27462815, PMID:9341143 ; - oboInOwl:hasDbXref UMLS:C1414344 ; oboInOwl:hasExactSynonym "EIF3D", "eif3-p66", "eukaryotic translation initiation factor 3, subunit 7, formerly", "eukaryotic translation initiation factor 3, subunit d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8664 ; - skos:exactMatch HGNC_symbol:EIF3D ; + skos:exactMatch UMLS:C1414344, + HGNC:3278, + HGNC_symbol:EIF3D ; biolink:category biolink:Gene . OMIM:603916 a owl:Class ; rdfs:label "EIF3C" ; IAO:0000142 PMID:16497727, PMID:8995409 ; - oboInOwl:hasDbXref UMLS:C1414345 ; oboInOwl:hasExactSynonym "EIF3C", "eif3-p110", "eukaryotic translation initiation factor 3, subunit 8, formerly", "eukaryotic translation initiation factor 3, subunit c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8663 ; - skos:exactMatch HGNC_symbol:EIF3C ; + skos:exactMatch UMLS:C1414345, + HGNC:3279, + HGNC_symbol:EIF3C ; biolink:category biolink:Gene . OMIM:603917 a owl:Class ; @@ -181350,7 +187137,6 @@ OMIM:603917 a owl:Class ; IAO:0000142 PMID:8995409, PMID:8995410, PMID:9388245 ; - oboInOwl:hasDbXref UMLS:C1414346 ; oboInOwl:hasExactSynonym "EIF3B", "eif3-p116", "eukaryotic translation initiation factor 3, subunit 9, formerly", @@ -181358,14 +187144,15 @@ OMIM:603917 a owl:Class ; "protein synthesis defective at 36 degrees celsius 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8662 ; - skos:exactMatch HGNC_symbol:EIF3B ; + skos:exactMatch UMLS:C1414346, + HGNC:3280, + HGNC_symbol:EIF3B ; biolink:category biolink:Gene . OMIM:603919 a owl:Class ; rdfs:label "STK10" ; IAO:0000142 PMID:10199912, PMID:9278426 ; - oboInOwl:hasDbXref UMLS:C1420463 ; oboInOwl:hasExactSynonym "STK10", "at1-46, rat, homolog of", "lok", @@ -181373,19 +187160,22 @@ OMIM:603919 a owl:Class ; "serine/threonine protein kinase 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6793 ; - skos:exactMatch HGNC_symbol:STK10 ; + skos:exactMatch UMLS:C1420463, + HGNC:11388, + HGNC_symbol:STK10 ; biolink:category biolink:Gene . OMIM:603920 a owl:Class ; rdfs:label "CRYZL1" ; IAO:0000142 PMID:10191096 ; - oboInOwl:hasDbXref UMLS:C1413743 ; oboInOwl:hasExactSynonym "CRYZL1", "crystallin, zeta-like 1", "quinone oxidoreductase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9946 ; - skos:exactMatch HGNC_symbol:CRYZL1 ; + skos:exactMatch UMLS:C1413743, + HGNC:2420, + HGNC_symbol:CRYZL1 ; biolink:category biolink:Gene . OMIM:603921 a owl:Class ; @@ -181397,27 +187187,29 @@ OMIM:603921 a owl:Class ; PMID:9765291 ; RO:0002525 CHR:9606chr13q14.2 ; RO:0003303 OMIM:612073 ; - oboInOwl:hasDbXref UMLS:C1420510 ; oboInOwl:hasExactSynonym "SUCLA2", "a-beta", "atp-specific succinyl-coa synthetase, beta subunit", "succinate-coa ligase, adp-forming, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8803 ; - skos:exactMatch HGNC_symbol:SUCLA2 ; + skos:exactMatch UMLS:C1420510, + HGNC:11448, + HGNC_symbol:SUCLA2 ; biolink:category biolink:Gene . OMIM:603922 a owl:Class ; rdfs:label "SUCLG2" ; IAO:0000142 PMID:9765291 ; - oboInOwl:hasDbXref UMLS:C1420512 ; oboInOwl:hasExactSynonym "SUCLG2", "g-beta", "gtp-specific succinyl-coa synthetase, beta subunit", "succinate-coa ligase, gdp-forming, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8801 ; - skos:exactMatch HGNC_symbol:SUCLG2 ; + skos:exactMatch UMLS:C1420512, + HGNC:11450, + HGNC_symbol:SUCLG2 ; biolink:category biolink:Gene . OMIM:603923 a owl:Class ; @@ -181443,7 +187235,6 @@ OMIM:603924 a owl:Class ; PMID:9443814 ; RO:0002525 CHR:9606chr10q25.3 ; RO:0003303 OMIM:188050 ; - oboInOwl:hasDbXref UMLS:C1415457 ; oboInOwl:hasExactSynonym "HABP2", "factor vii-activating protease", "hepatocyte growth factor activator-like", @@ -181452,7 +187243,9 @@ OMIM:603924 a owl:Class ; "hyaluronic acid-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3026 ; - skos:exactMatch HGNC_symbol:HABP2 ; + skos:exactMatch UMLS:C1415457, + HGNC:4798, + HGNC_symbol:HABP2 ; biolink:category biolink:Gene . OMIM:603925 a owl:Class ; @@ -181460,36 +187253,39 @@ OMIM:603925 a owl:Class ; IAO:0000142 PMID:10595519, PMID:8643476, PMID:9760194 ; - oboInOwl:hasDbXref UMLS:C1420547 ; oboInOwl:hasExactSynonym "SYNGR1", "synaptogyrin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9145 ; - skos:exactMatch HGNC_symbol:SYNGR1 ; + skos:exactMatch UMLS:C1420547, + HGNC:11498, + HGNC_symbol:SYNGR1 ; biolink:category biolink:Gene . OMIM:603926 a owl:Class ; rdfs:label "SYNGR2" ; IAO:0000142 PMID:9446595, PMID:9760194 ; - oboInOwl:hasDbXref UMLS:C1420548 ; oboInOwl:hasExactSynonym "SYNGR2", "cellugyrin", "synaptogyrin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9144 ; - skos:exactMatch HGNC_symbol:SYNGR2 ; + skos:exactMatch UMLS:C1420548, + HGNC:11499, + HGNC_symbol:SYNGR2 ; biolink:category biolink:Gene . OMIM:603927 a owl:Class ; rdfs:label "SYNGR3" ; IAO:0000142 PMID:9760194 ; - oboInOwl:hasDbXref UMLS:C1420550 ; oboInOwl:hasExactSynonym "SYNGR3", "synaptogyrin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9143 ; - skos:exactMatch HGNC_symbol:SYNGR3 ; + skos:exactMatch UMLS:C1420550, + HGNC:11501, + HGNC_symbol:SYNGR3 ; biolink:category biolink:Gene . OMIM:603928 a owl:Class ; @@ -181498,12 +187294,13 @@ OMIM:603928 a owl:Class ; PMID:26113725, PMID:8139536, PMID:8816444 ; - oboInOwl:hasDbXref UMLS:C1414350 ; oboInOwl:hasExactSynonym "EIF4B", "eukaryotic translation initiation factor 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1975 ; - skos:exactMatch HGNC_symbol:EIF4B ; + skos:exactMatch UMLS:C1414350, + HGNC:3285, + HGNC_symbol:EIF4B ; biolink:category biolink:Gene . OMIM:603929 a owl:Class ; @@ -181511,13 +187308,14 @@ OMIM:603929 a owl:Class ; IAO:0000142 PMID:24497838, PMID:9418880, PMID:9857202 ; - oboInOwl:hasDbXref UMLS:C1414358 ; oboInOwl:hasExactSynonym "EIF4G3", "eif4gii", "eukaryotic translation initiation factor 4-gamma, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8672 ; - skos:exactMatch HGNC_symbol:EIF4G3 ; + skos:exactMatch UMLS:C1414358, + HGNC:3298, + HGNC_symbol:EIF4G3 ; biolink:category biolink:Gene . OMIM:603930 a owl:Class ; @@ -181539,8 +187337,6 @@ OMIM:603930 a owl:Class ; PMID:9990024 ; RO:0002525 CHR:9606chr14q23.3-q24.1 ; RO:0003303 OMIM:615501 ; - oboInOwl:hasDbXref UMLS:C1423507, - UMLS:C1834584 ; oboInOwl:hasExactSynonym "GPHN", "gephyrin", "gph", @@ -181548,21 +187344,25 @@ OMIM:603930 a owl:Class ; "mll/gphn fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10243 ; - skos:exactMatch HGNC_symbol:GPHN ; + skos:exactMatch UMLS:C1423507, + UMLS:C1834584, + HGNC:15465, + HGNC_symbol:GPHN ; biolink:category biolink:Gene . OMIM:603931 a owl:Class ; rdfs:label "ATP6V0E1" ; IAO:0000142 PMID:11471056, PMID:9556572 ; - oboInOwl:hasDbXref UMLS:C1825508 ; oboInOwl:hasExactSynonym "ATP6V0E1", "atp6v0e", "atpase, h+ transporting, lysosomal, 9-kd, v0 subunit e1", "atpase, h+ transporting, lysosomal, subunit h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8992 ; - skos:exactMatch HGNC_symbol:ATP6V0E1 ; + skos:exactMatch UMLS:C1825508, + HGNC:863, + HGNC_symbol:ATP6V0E1 ; biolink:category biolink:Gene . OMIM:603934 a owl:Class ; @@ -181582,13 +187382,14 @@ OMIM:603934 a owl:Class ; PMID:21454787, PMID:23136128, PMID:27309807 ; - oboInOwl:hasDbXref UMLS:C1428067 ; oboInOwl:hasExactSynonym "CARM1", "coactivator-associated arginine methyltransferase 1", "protein arginine n-methyltransferase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10498 ; - skos:exactMatch HGNC_symbol:CARM1 ; + skos:exactMatch UMLS:C1428067, + HGNC:23393, + HGNC_symbol:CARM1 ; biolink:category biolink:Gene . OMIM:603936 a owl:Class ; @@ -181611,14 +187412,15 @@ OMIM:603936 a owl:Class ; PMID:9139826 ; RO:0002525 CHR:9606chr12q13.2 ; RO:0003303 OMIM:619122 ; - oboInOwl:hasDbXref UMLS:C1415032, - UMLS:C5436851 ; oboInOwl:hasExactSynonym "GDF11", "bone morphogenetic protein 11", "growth/differentiation factor 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10220 ; - skos:exactMatch HGNC_symbol:GDF11 ; + skos:exactMatch UMLS:C1415032, + UMLS:C5436851, + HGNC:4216, + HGNC_symbol:GDF11 ; biolink:category biolink:Gene . OMIM:603937 a owl:Class ; @@ -181638,14 +187440,15 @@ OMIM:603937 a owl:Class ; PMID:9205110 ; RO:0002525 CHR:9606chr8q11.23-q12.1 ; RO:0003303 OMIM:180100 ; - oboInOwl:hasDbXref UMLS:C1419605 ; oboInOwl:hasExactSynonym "RP1", "oxygen-regulated photoreceptor protein 1", "rp1 axonemal microtubule-associated protein", "rp1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6101 ; - skos:exactMatch HGNC_symbol:RP1 ; + skos:exactMatch UMLS:C1419605, + HGNC:10263, + HGNC_symbol:RP1 ; biolink:category biolink:Gene . OMIM:603938 a owl:Class ; @@ -181660,25 +187463,27 @@ OMIM:603939 a owl:Class ; PMID:10393428, PMID:10887187, PMID:29958799 ; - oboInOwl:hasDbXref UMLS:C1416599 ; oboInOwl:hasExactSynonym "KCNK6", "potassium channel, subfamily k, member 6", "potassium channel, weakly inward-rectifying, with twin p domains, 2", "twik-originated similarity sequence" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9424 ; - skos:exactMatch HGNC_symbol:KCNK6 ; + skos:exactMatch UMLS:C1416599, + HGNC:6281, + HGNC_symbol:KCNK6 ; biolink:category biolink:Gene . OMIM:603940 a owl:Class ; rdfs:label "KCNK7" ; IAO:0000142 PMID:10206991 ; - oboInOwl:hasDbXref UMLS:C1416600 ; oboInOwl:hasExactSynonym "KCNK7", "potassium channel, subfamily k, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10089 ; - skos:exactMatch HGNC_symbol:KCNK7 ; + skos:exactMatch UMLS:C1416600, + HGNC:6282, + HGNC_symbol:KCNK7 ; biolink:category biolink:Gene . OMIM:603941 a owl:Class ; @@ -181698,13 +187503,14 @@ OMIM:603941 a owl:Class ; PMID:9399900 ; RO:0002525 CHR:9606chr1q24.2 ; RO:0003303 OMIM:249270 ; - oboInOwl:hasDbXref UMLS:C1420118 ; oboInOwl:hasExactSynonym "SLC19A2", "solute carrier family 19 (thiamine transporter), member 2", "thiamine transporter protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10560 ; - skos:exactMatch HGNC_symbol:SLC19A2 ; + skos:exactMatch UMLS:C1420118, + HGNC:10938, + HGNC_symbol:SLC19A2 ; biolink:category biolink:Gene . OMIM:603942 a owl:Class ; @@ -181719,12 +187525,13 @@ OMIM:603942 a owl:Class ; PMID:8661012 ; RO:0002525 CHR:9606chr3q24 ; RO:0003303 OMIM:616199 ; - oboInOwl:hasDbXref UMLS:C1825436 ; oboInOwl:hasExactSynonym "GYG1", "glycogenin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2992 ; - skos:exactMatch HGNC_symbol:GYG1 ; + skos:exactMatch UMLS:C1825436, + HGNC:4699, + HGNC_symbol:GYG1 ; biolink:category biolink:Gene . OMIM:603943 a owl:Class ; @@ -181734,14 +187541,15 @@ OMIM:603943 a owl:Class ; PMID:7524679, PMID:8835096, PMID:9497919 ; - oboInOwl:hasDbXref UMLS:C1413295 ; oboInOwl:hasExactSynonym "CDO", "cysteine dioxygenase", "cysteine dioxygenase, iia 1", "l-cysteine: oxygen oxidoreductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1036 ; - skos:exactMatch HGNC_symbol:CDO1 ; + skos:exactMatch UMLS:C1413295, + HGNC:1795, + HGNC_symbol:CDO1 ; biolink:category biolink:Gene . OMIM:603944 a owl:Class ; @@ -181752,12 +187560,13 @@ OMIM:603944 a owl:Class ; PMID:12082176, PMID:20130090, PMID:9553086 ; - oboInOwl:hasDbXref UMLS:C1420503 ; oboInOwl:hasExactSynonym "STX6", "syntaxin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10228 ; - skos:exactMatch HGNC_symbol:STX6 ; + skos:exactMatch UMLS:C1420503, + HGNC:11441, + HGNC_symbol:STX6 ; biolink:category biolink:Gene . OMIM:603945 a owl:Class ; @@ -181781,14 +187590,15 @@ OMIM:603945 a owl:Class ; PMID:8688466 ; RO:0002525 CHR:9606chr3q27.1 ; RO:0003303 OMIM:603896 ; - oboInOwl:hasDbXref UMLS:C1414331 ; oboInOwl:hasExactSynonym "EIF2B5", "eif2b-epsilon", "eukaryotic translation initiation factor 2b, epsilon", "eukaryotic translation initiation factor 2b, subunit 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8893 ; - skos:exactMatch HGNC_symbol:EIF2B5 ; + skos:exactMatch UMLS:C1414331, + HGNC:3261, + HGNC_symbol:EIF2B5 ; biolink:category biolink:Gene . OMIM:603946 a owl:Class ; @@ -181810,7 +187620,6 @@ OMIM:603946 a owl:Class ; PMID:9878251 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:616911 ; - oboInOwl:hasDbXref UMLS:C1415508 ; oboInOwl:hasExactSynonym "HELLS", "helicase, lymphoid-specific", "lsh", @@ -181818,7 +187627,9 @@ OMIM:603946 a owl:Class ; "swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3070 ; - skos:exactMatch HGNC_symbol:HELLS ; + skos:exactMatch UMLS:C1415508, + HGNC:4861, + HGNC_symbol:HELLS ; biolink:category biolink:Gene . OMIM:603947 a owl:Class ; @@ -181828,14 +187639,15 @@ OMIM:603947 a owl:Class ; PMID:11099047, PMID:11856890, PMID:9929979 ; - oboInOwl:hasDbXref UMLS:C1417406 ; oboInOwl:hasExactSynonym "MTA2", "metastasis-associated 1-like 1", "metastasis-associated protein 2", "pid" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9219 ; - skos:exactMatch HGNC_symbol:MTA2 ; + skos:exactMatch UMLS:C1417406, + HGNC:7411, + HGNC_symbol:MTA2 ; biolink:category biolink:Gene . OMIM:603948 a owl:Class ; @@ -181844,30 +187656,31 @@ OMIM:603948 a owl:Class ; PMID:11598013, PMID:12967567, PMID:8110839 ; - oboInOwl:hasDbXref UMLS:C1417892 ; oboInOwl:hasExactSynonym "NUP153", "nucleoporin, 153-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9972 ; - skos:exactMatch HGNC_symbol:NUP153 ; + skos:exactMatch UMLS:C1417892, + HGNC:8062, + HGNC_symbol:NUP153 ; biolink:category biolink:Gene . OMIM:603949 a owl:Class ; rdfs:label "RAB7L1" ; IAO:0000142 PMID:9284931 ; - oboInOwl:hasDbXref UMLS:C1419218 ; oboInOwl:hasExactSynonym "RAB7L1", "rab7-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8934 ; - skos:exactMatch HGNC_symbol:RAB29 ; + skos:exactMatch UMLS:C1419218, + HGNC:9789, + HGNC_symbol:RAB29 ; biolink:category biolink:Gene . OMIM:603950 a owl:Class ; rdfs:label "NDST3" ; IAO:0000142 PMID:11087757, PMID:9915799 ; - oboInOwl:hasDbXref UMLS:C1417619 ; oboInOwl:hasExactSynonym "NDST3", "glcnac n-deacetylase/n-sulfotransferase, heparan sulfate/heparin, 3", "heparan glucosaminyl n-deacetylase/n-sulfotransferase 3", @@ -181875,7 +187688,9 @@ OMIM:603950 a owl:Class ; "n-deacetylase/n-sulfotransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9348 ; - skos:exactMatch HGNC_symbol:NDST3 ; + skos:exactMatch UMLS:C1417619, + HGNC:7682, + HGNC_symbol:NDST3 ; biolink:category biolink:Gene . OMIM:603951 a owl:Class ; @@ -181893,14 +187708,15 @@ OMIM:603951 a owl:Class ; PMID:9888999 ; RO:0002525 CHR:9606chr5q35.1 ; RO:0003303 OMIM:608622 ; - oboInOwl:hasDbXref UMLS:C1416603, - UMLS:C1837739 ; oboInOwl:hasExactSynonym "KCNMB1", "potassium channel, calcium-activated, large conductance, subfamily m, beta member 1", "slo-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3779 ; - skos:exactMatch HGNC_symbol:KCNMB1 ; + skos:exactMatch UMLS:C1416603, + UMLS:C1837739, + HGNC:6285, + HGNC_symbol:KCNMB1 ; biolink:category biolink:Gene . OMIM:603952 a owl:Class ; @@ -181908,26 +187724,28 @@ OMIM:603952 a owl:Class ; IAO:0000142 PMID:1378265, PMID:1449490, PMID:9824680 ; - oboInOwl:hasDbXref UMLS:C1414151 ; oboInOwl:hasExactSynonym "DRG1", "developmentally regulated gtp-binding protein", "developmentally regulated gtp-binding protein 1", "neural precursor cell expressed, developmentally downregulated 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4733 ; - skos:exactMatch HGNC_symbol:DRG1 ; + skos:exactMatch UMLS:C1414151, + HGNC:3029, + HGNC_symbol:DRG1 ; biolink:category biolink:Gene . OMIM:603953 a owl:Class ; rdfs:label "KCNJ14" ; IAO:0000142 PMID:9592090 ; - oboInOwl:hasDbXref UMLS:C1416581 ; oboInOwl:hasExactSynonym "KCNJ14", "kir2.4", "potassium inwardly-rectifying channel, subfamily j, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3770 ; - skos:exactMatch HGNC_symbol:KCNJ14 ; + skos:exactMatch UMLS:C1416581, + HGNC:6260, + HGNC_symbol:KCNJ14 ; biolink:category biolink:Gene . OMIM:603954 a owl:Class ; @@ -181937,13 +187755,14 @@ OMIM:603954 a owl:Class ; PMID:11590237, PMID:15094189, PMID:9298984 ; - oboInOwl:hasDbXref UMLS:C1421868 ; oboInOwl:hasExactSynonym "ZW10", "zeste-white 10, drosophila, homolog of", "zw10 kinetochore protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9183 ; - skos:exactMatch HGNC_symbol:ZW10 ; + skos:exactMatch UMLS:C1421868, + HGNC:13194, + HGNC_symbol:ZW10 ; biolink:category biolink:Gene . OMIM:603955 a owl:Class ; @@ -181954,13 +187773,14 @@ OMIM:603955 a owl:Class ; PMID:7720101, PMID:8786146, PMID:9804831 ; - oboInOwl:hasDbXref UMLS:C1414644 ; oboInOwl:hasExactSynonym "FMO2", "flavin-containing monooxygenase 2", "fmo, pulmonary" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2327 ; - skos:exactMatch HGNC_symbol:FMO2 ; + skos:exactMatch UMLS:C1414644, + HGNC:3770, + HGNC_symbol:FMO2 ; biolink:category biolink:Gene . OMIM:603956 a owl:Class ; @@ -181974,8 +187794,8 @@ OMIM:603956 a owl:Class ; PMID:23266353, PMID:24390348, PMID:8041728 ; - oboInOwl:hasDbXref UMLS:C4048328 ; oboInOwl:hasExactSynonym "cervical cancer" ; + skos:exactMatch UMLS:C4048328 ; biolink:category biolink:Disease . OMIM:603957 a owl:Class ; @@ -181985,12 +187805,13 @@ OMIM:603957 a owl:Class ; PMID:8786146, PMID:9119381, PMID:9284726 ; - oboInOwl:hasDbXref UMLS:C1414647 ; oboInOwl:hasExactSynonym "FMO5", "flavin-containing monooxygenase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2330 ; - skos:exactMatch HGNC_symbol:FMO5 ; + skos:exactMatch UMLS:C1414647, + HGNC:3773, + HGNC_symbol:FMO5 ; biolink:category biolink:Gene . OMIM:603958 a owl:Class ; @@ -181999,12 +187820,13 @@ OMIM:603958 a owl:Class ; PMID:17553428, PMID:8289803, PMID:8600444 ; - oboInOwl:hasDbXref UMLS:C1419362 ; oboInOwl:hasExactSynonym "RFX4", "regulatory factor x, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5992 ; - skos:exactMatch HGNC_symbol:RFX4 ; + skos:exactMatch UMLS:C1419362, + HGNC:9985, + HGNC_symbol:RFX4 ; biolink:category biolink:Gene . OMIM:603959 a owl:Class ; @@ -182022,25 +187844,27 @@ OMIM:603959 a owl:Class ; PMID:668721 ; RO:0002525 CHR:9606chr3q28 ; RO:0003303 OMIM:248250 ; - oboInOwl:hasDbXref UMLS:C1413465 ; oboInOwl:hasExactSynonym "CLDN16", "claudin 16", "paracellin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10686 ; - skos:exactMatch HGNC_symbol:CLDN16 ; + skos:exactMatch UMLS:C1413465, + HGNC:2037, + HGNC_symbol:CLDN16 ; biolink:category biolink:Gene . OMIM:603960 a owl:Class ; rdfs:label "CCIN" ; IAO:0000142 PMID:3308904, PMID:7641791 ; - oboInOwl:hasDbXref UMLS:C1413166 ; oboInOwl:hasExactSynonym "CCIN", "calicin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:881 ; - skos:exactMatch HGNC_symbol:CCIN ; + skos:exactMatch UMLS:C1413166, + HGNC:1568, + HGNC_symbol:CCIN ; biolink:category biolink:Gene . OMIM:603961 a owl:Class ; @@ -182066,8 +187890,6 @@ OMIM:603961 a owl:Class ; PMID:8849723 ; RO:0002525 CHR:9606chr7q21.11 ; RO:0003303 OMIM:614897 ; - oboInOwl:hasDbXref UMLS:C1419942, - UMLS:C4016867 ; oboInOwl:hasExactSynonym "SEMA3A", "collapsin 1", "semaphorin 3", @@ -182075,7 +187897,10 @@ OMIM:603961 a owl:Class ; "semaphorin d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10371 ; - skos:exactMatch HGNC_symbol:SEMA3A ; + skos:exactMatch UMLS:C1419942, + UMLS:C4016867, + HGNC:10723, + HGNC_symbol:SEMA3A ; biolink:category biolink:Gene . OMIM:603962 a owl:Class ; @@ -182093,12 +187918,13 @@ OMIM:603962 a owl:Class ; PMID:9789079 ; RO:0002525 CHR:9606chr15q14 ; RO:0003303 OMIM:618534 ; - oboInOwl:hasDbXref UMLS:C1419283 ; oboInOwl:hasExactSynonym "RASGRP1", "ras guanyl nucleotide-releasing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10125 ; - skos:exactMatch HGNC_symbol:RASGRP1 ; + skos:exactMatch UMLS:C1419283, + HGNC:9878, + HGNC_symbol:RASGRP1 ; biolink:category biolink:Gene . OMIM:603963 a owl:Class ; @@ -182109,14 +187935,15 @@ OMIM:603963 a owl:Class ; PMID:8245132, PMID:8290272, PMID:8381220 ; - oboInOwl:hasDbXref UMLS:C1416491 ; oboInOwl:hasExactSynonym "ITGA9", "alpha related to the development of lung cancer", "alpha-rlc", "integrin, alpha-9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3680 ; - skos:exactMatch HGNC_symbol:ITGA9 ; + skos:exactMatch UMLS:C1416491, + HGNC:6145, + HGNC_symbol:ITGA9 ; biolink:category biolink:Gene . OMIM:603966 a owl:Class ; @@ -182127,7 +187954,6 @@ OMIM:603966 a owl:Class ; PMID:7789999, PMID:8274401, PMID:9862446 ; - oboInOwl:hasDbXref UMLS:C1412326 ; oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase 5", "3-alpha-hydroxysteroid dehydrogenase, iia 2", "AKR1C3", @@ -182136,7 +187962,9 @@ OMIM:603966 a owl:Class ; "dihydrodiol dehydrogenase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8644 ; - skos:exactMatch HGNC_symbol:AKR1C3 ; + skos:exactMatch UMLS:C1412326, + HGNC:386, + HGNC_symbol:AKR1C3 ; biolink:category biolink:Gene . OMIM:603967 a owl:Class ; @@ -182203,7 +188031,13 @@ OMIM:603967 a owl:Class ; PMID:9771789 ; RO:0002525 CHR:9606chr17q23.3 ; RO:0003303 OMIM:168300 ; - oboInOwl:hasDbXref UMLS:C0221055, + oboInOwl:hasExactSynonym "SCN4A", + "nav1.4", + "sodium channel, voltage-gated, iia iv, alpha subunit", + "sodium voltage-gated channel, alpha subunit 4" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:6329 ; + skos:exactMatch UMLS:C0221055, UMLS:C0238357, UMLS:C0752355, UMLS:C1419862, @@ -182214,14 +188048,9 @@ OMIM:603967 a owl:Class ; UMLS:C2986382, UMLS:C3280112, UMLS:C4016868, - UMLS:C4016869 ; - oboInOwl:hasExactSynonym "SCN4A", - "nav1.4", - "sodium channel, voltage-gated, iia iv, alpha subunit", - "sodium voltage-gated channel, alpha subunit 4" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:6329 ; - skos:exactMatch HGNC_symbol:SCN4A ; + UMLS:C4016869, + HGNC:10591, + HGNC_symbol:SCN4A ; biolink:category biolink:Gene . OMIM:603968 a owl:Class ; @@ -182248,13 +188077,14 @@ OMIM:603968 a owl:Class ; PMID:9974380 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:278750 ; - oboInOwl:hasDbXref UMLS:C1418733 ; oboInOwl:hasExactSynonym "POLH", "polymerase, dna, eta", "rad30, s. cerevisiae, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5429 ; - skos:exactMatch HGNC_symbol:POLH ; + skos:exactMatch UMLS:C1418733, + HGNC:9181, + HGNC_symbol:POLH ; biolink:category biolink:Gene . OMIM:603969 a owl:Class ; @@ -182279,7 +188109,6 @@ OMIM:603969 a owl:Class ; PMID:16239971, PMID:17539776, PMID:18820032 ; - oboInOwl:hasDbXref UMLS:C1420816 ; oboInOwl:hasExactSynonym "B cell-activating factor", "TNFSF13B", "b-lymphocyte stimulator", @@ -182288,14 +188117,15 @@ OMIM:603969 a owl:Class ; "tumor necrosis factor ligand superfamily, member 13b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10673 ; - skos:exactMatch HGNC_symbol:TNFSF13B ; + skos:exactMatch UMLS:C1420816, + HGNC:11929, + HGNC_symbol:TNFSF13B ; biolink:category biolink:Gene . OMIM:603970 a owl:Class ; rdfs:label "PNMA2" ; IAO:0000142 PMID:10050892, PMID:10362822 ; - oboInOwl:hasDbXref UMLS:C1418712 ; oboInOwl:hasExactSynonym "PNMA2", "mm2", "onconeuronal antigen ma2", @@ -182303,7 +188133,9 @@ OMIM:603970 a owl:Class ; "paraneoplastic ma antigen 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10687 ; - skos:exactMatch HGNC_symbol:PNMA2 ; + skos:exactMatch UMLS:C1418712, + HGNC:9159, + HGNC_symbol:PNMA2 ; biolink:category biolink:Gene . OMIM:603971 a owl:Class ; @@ -182311,12 +188143,13 @@ OMIM:603971 a owl:Class ; IAO:0000142 PMID:2023909, PMID:25274305, PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421849 ; oboInOwl:hasExactSynonym "ZNF91", "zinc finger protein 91" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7644 ; - skos:exactMatch HGNC_symbol:ZNF91 ; + skos:exactMatch UMLS:C1421849, + HGNC:13166, + HGNC_symbol:ZNF91 ; biolink:category biolink:Gene . OMIM:603972 a owl:Class ; @@ -182324,36 +188157,39 @@ OMIM:603972 a owl:Class ; IAO:0000142 PMID:1711675, PMID:2023909, PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421799 ; oboInOwl:hasExactSynonym "ZNF43", "zinc finger protein 43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7594 ; - skos:exactMatch HGNC_symbol:ZNF43 ; + skos:exactMatch UMLS:C1421799, + HGNC:13109, + HGNC_symbol:ZNF43 ; biolink:category biolink:Gene . OMIM:603973 a owl:Class ; rdfs:label "ZNF90" ; IAO:0000142 PMID:2023909, PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421848 ; oboInOwl:hasExactSynonym "ZNF90", "zinc finger protein 90" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7643 ; - skos:exactMatch HGNC_symbol:ZNF90 ; + skos:exactMatch UMLS:C1421848, + HGNC:13165, + HGNC_symbol:ZNF90 ; biolink:category biolink:Gene . OMIM:603974 a owl:Class ; rdfs:label "ZNF92" ; IAO:0000142 PMID:2023909, PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421850 ; oboInOwl:hasExactSynonym "ZNF92", "zinc finger protein 92" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:168374 ; - skos:exactMatch HGNC_symbol:ZNF92 ; + skos:exactMatch UMLS:C1421850, + HGNC:13168, + HGNC_symbol:ZNF92 ; biolink:category biolink:Gene . OMIM:603975 a owl:Class ; @@ -182361,104 +188197,111 @@ OMIM:603975 a owl:Class ; IAO:0000142 PMID:2023909, PMID:25274305, PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421851 ; oboInOwl:hasExactSynonym "ZNF93", "zinc finger protein 93" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81931 ; - skos:exactMatch HGNC_symbol:ZNF93 ; + skos:exactMatch UMLS:C1421851, + HGNC:13169, + HGNC_symbol:ZNF93 ; biolink:category biolink:Gene . OMIM:603976 a owl:Class ; rdfs:label "zinc finger protein 94" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858876 ; oboInOwl:hasExactSynonym "ZNF94", - "zinc finger protein 94" . + "zinc finger protein 94" ; + skos:exactMatch UMLS:C1858876 . OMIM:603978 a owl:Class ; rdfs:label "ZSCAN12" ; IAO:0000142 PMID:8467795, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1421854 ; oboInOwl:hasExactSynonym "ZSCAN12", "kiaa0426", "zinc finger protein 96", "zinc finger- and scan domain-containing protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9753 ; - skos:exactMatch HGNC_symbol:ZSCAN12 ; + skos:exactMatch UMLS:C1421854, + HGNC:13172, + HGNC_symbol:ZSCAN12 ; biolink:category biolink:Gene . OMIM:603979 a owl:Class ; rdfs:label "zinc finger protein 97" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421855 ; oboInOwl:hasExactSynonym "ZNF97", - "zinc finger protein 97" . + "zinc finger protein 97" ; + skos:exactMatch UMLS:C1421855 . OMIM:603980 a owl:Class ; rdfs:label "ZNF98" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421856 ; oboInOwl:hasExactSynonym "ZNF98", "zinc finger protein 98" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148198 ; - skos:exactMatch HGNC_symbol:ZNF98 ; + skos:exactMatch UMLS:C1421856, + HGNC:13174, + HGNC_symbol:ZNF98 ; biolink:category biolink:Gene . OMIM:603981 a owl:Class ; rdfs:label "ZNF99" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421857 ; oboInOwl:hasExactSynonym "ZNF99", "zinc finger protein 99" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7652 ; - skos:exactMatch HGNC_symbol:ZNF99 ; + skos:exactMatch UMLS:C1421857, + HGNC:13175, + HGNC_symbol:ZNF99 ; biolink:category biolink:Gene . OMIM:603982 a owl:Class ; rdfs:label "ZNF100" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421589 ; oboInOwl:hasExactSynonym "ZNF100", "zinc finger protein 100" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163227 ; - skos:exactMatch HGNC_symbol:ZNF100 ; + skos:exactMatch UMLS:C1421589, + HGNC:12880, + HGNC_symbol:ZNF100 ; biolink:category biolink:Gene . OMIM:603983 a owl:Class ; rdfs:label "ZNF101" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421590 ; oboInOwl:hasExactSynonym "ZNF101", "zinc finger protein 101" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94039 ; - skos:exactMatch HGNC_symbol:ZNF101 ; + skos:exactMatch UMLS:C1421590, + HGNC:12881, + HGNC_symbol:ZNF101 ; biolink:category biolink:Gene . OMIM:603984 a owl:Class ; rdfs:label "ZNF737" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C2240213 ; oboInOwl:hasExactSynonym "ZNF737", "zinc finger protein 102", "zinc finger protein 737" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100129842 ; - skos:exactMatch HGNC_symbol:ZNF737 ; + skos:exactMatch UMLS:C2240213, + HGNC:32468, + HGNC_symbol:ZNF737 ; biolink:category biolink:Gene . OMIM:603985 a owl:Class ; rdfs:label "zinc finger protein 103" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858873 ; oboInOwl:hasExactSynonym "ZNF103", - "zinc finger protein 103" . + "zinc finger protein 103" ; + skos:exactMatch UMLS:C1858873 . OMIM:603986 a owl:Class ; owl:deprecated true . @@ -182466,16 +188309,16 @@ OMIM:603986 a owl:Class ; OMIM:603987 a owl:Class ; rdfs:label "zinc finger protein 105" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858872 ; oboInOwl:hasExactSynonym "ZNF105", - "zinc finger protein 105" . + "zinc finger protein 105" ; + skos:exactMatch UMLS:C1858872 . OMIM:603988 a owl:Class ; rdfs:label "zinc finger protein 106" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858871 ; oboInOwl:hasExactSynonym "ZNF106", - "zinc finger protein 106" . + "zinc finger protein 106" ; + skos:exactMatch UMLS:C1858871 . OMIM:603990 a owl:Class ; owl:deprecated true . @@ -182483,82 +188326,84 @@ OMIM:603990 a owl:Class ; OMIM:603991 a owl:Class ; rdfs:label "zinc finger protein 109" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858870 ; oboInOwl:hasExactSynonym "ZNF109", - "zinc finger protein 109" . + "zinc finger protein 109" ; + skos:exactMatch UMLS:C1858870 . OMIM:603992 a owl:Class ; rdfs:label "zinc finger protein 110" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858869 ; oboInOwl:hasExactSynonym "ZNF110", - "zinc finger protein 110" . + "zinc finger protein 110" ; + skos:exactMatch UMLS:C1858869 . OMIM:603993 a owl:Class ; rdfs:label "zinc finger protein 111" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858868 ; oboInOwl:hasExactSynonym "ZNF111", - "zinc finger protein 111" . + "zinc finger protein 111" ; + skos:exactMatch UMLS:C1858868 . OMIM:603994 a owl:Class ; rdfs:label "ZNF112" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858867 ; oboInOwl:hasExactSynonym "ZNF112", "zinc finger protein 112" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7771 ; - skos:exactMatch HGNC_symbol:ZNF112 ; + skos:exactMatch UMLS:C1858867, + HGNC:12892, + HGNC_symbol:ZNF112 ; biolink:category biolink:Gene . OMIM:603995 a owl:Class ; rdfs:label "zinc finger protein 113" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858866 ; oboInOwl:hasExactSynonym "ZNF113", - "zinc finger protein 113" . + "zinc finger protein 113" ; + skos:exactMatch UMLS:C1858866 . OMIM:603996 a owl:Class ; rdfs:label "ZNF114" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421602 ; oboInOwl:hasExactSynonym "ZNF114", "zinc finger protein 114" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163071 ; - skos:exactMatch HGNC_symbol:ZNF114 ; + skos:exactMatch UMLS:C1421602, + HGNC:12894, + HGNC_symbol:ZNF114 ; biolink:category biolink:Gene . OMIM:603997 a owl:Class ; rdfs:label "zinc finger protein 118" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858865 ; oboInOwl:hasExactSynonym "ZNF118", - "zinc finger protein 118" . + "zinc finger protein 118" ; + skos:exactMatch UMLS:C1858865 . OMIM:603998 a owl:Class ; rdfs:label "zinc finger protein 119" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858864 ; oboInOwl:hasExactSynonym "ZNF119", - "zinc finger protein 119" . + "zinc finger protein 119" ; + skos:exactMatch UMLS:C1858864 . OMIM:603999 a owl:Class ; rdfs:label "ZNF120" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858863 ; oboInOwl:hasExactSynonym "ZNF120", "zinc finger protein 120" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1858863 ; biolink:category biolink:Gene . OMIM:604000 a owl:Class ; rdfs:label "zinc finger protein 122" ; IAO:0000142 PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1858862 ; oboInOwl:hasExactSynonym "ZNF122", - "zinc finger protein 122" . + "zinc finger protein 122" ; + skos:exactMatch UMLS:C1858862 . OMIM:604001 a owl:Class ; rdfs:label "AKAP9" ; @@ -182574,8 +188419,6 @@ OMIM:604001 a owl:Class ; PMID:9482789 ; RO:0002525 CHR:9606chr7q21.2 ; RO:0003303 OMIM:611820 ; - oboInOwl:hasDbXref UMLS:C1332072, - UMLS:C1858861 ; oboInOwl:hasExactSynonym "AKAP9", "a-kinase anchor protein 9", "a-kinase anchor protein, 450-kd", @@ -182584,7 +188427,10 @@ OMIM:604001 a owl:Class ; "yotiao" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10142 ; - skos:exactMatch HGNC_symbol:AKAP9 ; + skos:exactMatch UMLS:C1332072, + UMLS:C1858861, + HGNC:379, + HGNC_symbol:AKAP9 ; biolink:category biolink:Gene . OMIM:604002 a owl:Class ; @@ -182596,12 +188442,13 @@ OMIM:604002 a owl:Class ; PMID:21282601, PMID:9734811, PMID:9933571 ; - oboInOwl:hasDbXref UMLS:C1419598 ; oboInOwl:hasExactSynonym "ROCK2", "rho-associated coiled-coil-containing protein kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9475 ; - skos:exactMatch HGNC_symbol:ROCK2 ; + skos:exactMatch UMLS:C1419598, + HGNC:10252, + HGNC_symbol:ROCK2 ; biolink:category biolink:Gene . OMIM:604003 a owl:Class ; @@ -182610,14 +188457,15 @@ OMIM:604003 a owl:Class ; PMID:10437792, PMID:10584316, PMID:11071307 ; - oboInOwl:hasDbXref UMLS:C1332764 ; oboInOwl:hasExactSynonym "CLCA2", "calcium-activated chloride channel 3", "chloride channel accessory 2", "chloride channel, calcium-activated, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9635 ; - skos:exactMatch HGNC_symbol:CLCA2 ; + skos:exactMatch UMLS:C1332764, + HGNC:2016, + HGNC_symbol:CLCA2 ; biolink:category biolink:Gene . OMIM:604005 a owl:Class ; @@ -182633,25 +188481,27 @@ OMIM:604007 a owl:Class ; OMIM:604008 a owl:Class ; rdfs:label "PTPRZ2" ; IAO:0000142 PMID:9653645 ; - oboInOwl:hasDbXref UMLS:C1419127 ; oboInOwl:hasExactSynonym "PTPRZ2", "protein-tyrosine phosphatase, receptor-type, zeta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5804 ; - skos:exactMatch HGNC_symbol:PTPRZ2 ; + skos:exactMatch UMLS:C1419127, + HGNC:9686, + HGNC_symbol:PTPRZ2 ; biolink:category biolink:Gene . OMIM:604009 a owl:Class ; rdfs:label "BAIAP3" ; IAO:0000142 PMID:9790924, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1412733 ; oboInOwl:hasExactSynonym "BAIAP3", "bai1-associated protein 3", "bap3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8938 ; - skos:exactMatch HGNC_symbol:BAIAP3 ; + skos:exactMatch UMLS:C1412733, + HGNC:948, + HGNC_symbol:BAIAP3 ; biolink:category biolink:Gene . OMIM:604010 a owl:Class ; @@ -182659,14 +188509,15 @@ OMIM:604010 a owl:Class ; IAO:0000142 PMID:10050892, PMID:16214224, PMID:20936693 ; - oboInOwl:hasDbXref UMLS:C1418711 ; oboInOwl:hasExactSynonym "PNMA1", "neuron- and testis-specific protein 1", "paraneoplastic antigen ma1", "paraneoplastic ma antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9240 ; - skos:exactMatch HGNC_symbol:PNMA1 ; + skos:exactMatch UMLS:C1418711, + HGNC:9158, + HGNC_symbol:PNMA1 ; biolink:category biolink:Gene . OMIM:604011 a owl:Class ; @@ -182687,8 +188538,6 @@ OMIM:604011 a owl:Class ; PMID:9761287 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:615518 ; - oboInOwl:hasDbXref UMLS:C1421355, - UMLS:C4085590 ; oboInOwl:hasExactSynonym "UNC119", "cone-rod dystrophy", "human retinal gene 4", @@ -182696,85 +188545,94 @@ OMIM:604011 a owl:Class ; "unc119, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9094 ; - skos:exactMatch HGNC_symbol:UNC119 ; + skos:exactMatch UMLS:C1421355, + UMLS:C4085590, + HGNC:12565, + HGNC_symbol:UNC119 ; biolink:category biolink:Gene . OMIM:604012 a owl:Class ; rdfs:label "RNU20" ; IAO:0000142 PMID:8065311 ; - oboInOwl:hasDbXref UMLS:C1419490 ; oboInOwl:hasExactSynonym "RNU20", "rna, u20 small nucleolar", "snorna, u20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6082 ; - skos:exactMatch HGNC_symbol:SNORD20 ; + skos:exactMatch UMLS:C1419490, + HGNC:10143, + HGNC_symbol:SNORD20 ; biolink:category biolink:Gene . OMIM:604013 a owl:Class ; rdfs:label "B4GALT2" ; IAO:0000142 PMID:9405390, PMID:9597550 ; - oboInOwl:hasDbXref UMLS:C1412720 ; oboInOwl:hasExactSynonym "B4GALT2", "beta-1,4-galactosyltransferase 2", "beta-4-galt2", "udp-gal:beta-glcnac beta-1,4-galactosyltransferase, polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8704 ; - skos:exactMatch HGNC_symbol:B4GALT2 ; + skos:exactMatch UMLS:C1412720, + HGNC:925, + HGNC_symbol:B4GALT2 ; biolink:category biolink:Gene . OMIM:604014 a owl:Class ; rdfs:label "B4GALT3" ; IAO:0000142 PMID:9405390, PMID:9597550 ; - oboInOwl:hasDbXref UMLS:C1412721 ; oboInOwl:hasExactSynonym "B4GALT3", "beta-1,4-galactosyltransferase 3", "beta-4-galt3", "udp-gal:beta-glcnac beta-1,4-galactosyltransferase, polypeptide 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8703 ; - skos:exactMatch HGNC_symbol:B4GALT3 ; + skos:exactMatch UMLS:C1412721, + HGNC:926, + HGNC_symbol:B4GALT3 ; biolink:category biolink:Gene . OMIM:604015 a owl:Class ; rdfs:label "B4GALT4" ; IAO:0000142 PMID:9597550, PMID:9792633 ; - oboInOwl:hasDbXref UMLS:C1412722 ; oboInOwl:hasExactSynonym "B4GALT4", "beta-1,4-galactosyltransferase 4", "udp-gal:beta-glcnac beta-1,4-galactosyltransferase, polypeptide 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8702 ; - skos:exactMatch HGNC_symbol:B4GALT4 ; + skos:exactMatch UMLS:C1412722, + HGNC:927, + HGNC_symbol:B4GALT4 ; biolink:category biolink:Gene . OMIM:604016 a owl:Class ; rdfs:label "B4GALT5" ; IAO:0000142 PMID:9435216, PMID:9597550 ; - oboInOwl:hasDbXref UMLS:C1412723 ; oboInOwl:hasExactSynonym "B4GALT5", "beta-1,4-galactosyltransferase 5", "udp-gal:beta-glcnac beta-1,4-galactosyltransferase, polypeptide 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9334 ; - skos:exactMatch HGNC_symbol:B4GALT5 ; + skos:exactMatch UMLS:C1412723, + HGNC:928, + HGNC_symbol:B4GALT5 ; biolink:category biolink:Gene . OMIM:604017 a owl:Class ; rdfs:label "B4GALT6" ; IAO:0000142 PMID:9597550 ; - oboInOwl:hasDbXref UMLS:C1412724 ; oboInOwl:hasExactSynonym "B4GALT6", "beta-1,4-galactosyltransferase 6", "udp-gal:beta-glcnac beta-1,4-galactosyltransferase, polypeptide 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9331 ; - skos:exactMatch HGNC_symbol:B4GALT6 ; + skos:exactMatch UMLS:C1412724, + HGNC:929, + HGNC_symbol:B4GALT6 ; biolink:category biolink:Gene . OMIM:604018 a owl:Class ; @@ -182787,7 +188645,6 @@ OMIM:604018 a owl:Class ; PMID:9169836, PMID:9225980, PMID:9303539 ; - oboInOwl:hasDbXref UMLS:C1417891 ; oboInOwl:hasExactSynonym "NUMBL", "numb, drosophila, homolog-like", "numb-like endocytic adaptor protein", @@ -182796,13 +188653,14 @@ OMIM:604018 a owl:Class ; "trinucleotide repeat-containing gene 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9253 ; - skos:exactMatch HGNC_symbol:NUMBL ; + skos:exactMatch UMLS:C1417891, + HGNC:8061, + HGNC_symbol:NUMBL ; biolink:category biolink:Gene . OMIM:604019 a owl:Class ; rdfs:label "AGFG2" ; IAO:0000142 PMID:9303539 ; - oboInOwl:hasDbXref UMLS:C1415717 ; oboInOwl:hasExactSynonym "AGFG2", "adp-ribosylation factor gtpase-activating protein with fg repeats 2", "arfgap with fg repeats 2", @@ -182810,7 +188668,9 @@ OMIM:604019 a owl:Class ; "rev/rex activation domain-binding protein-related" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3268 ; - skos:exactMatch HGNC_symbol:AGFG2 ; + skos:exactMatch UMLS:C1415717, + HGNC:5177, + HGNC_symbol:AGFG2 ; biolink:category biolink:Gene . OMIM:604020 a owl:Class ; @@ -182826,14 +188686,15 @@ OMIM:604020 a owl:Class ; PMID:9455477, PMID:9679147, PMID:9806829 ; - oboInOwl:hasDbXref UMLS:C1412829 ; oboInOwl:hasExactSynonym "BSN", "bassoon presynaptic cytomatrix protein", "bassoon, mouse, homolog of", "zinc finger protein 231" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8927 ; - skos:exactMatch HGNC_symbol:BSN ; + skos:exactMatch UMLS:C1412829, + HGNC:1117, + HGNC_symbol:BSN ; biolink:category biolink:Gene . OMIM:604021 a owl:Class ; @@ -182858,14 +188719,15 @@ OMIM:604024 a owl:Class ; PMID:9516450 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:618973 ; - oboInOwl:hasDbXref UMLS:C1420205, - UMLS:C5436520 ; oboInOwl:hasExactSynonym "SLC5A6", "sodium-dependent multivitamin transporter", "solute carrier family 5 (sodium-dependent vitamin transporter), member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8884 ; - skos:exactMatch HGNC_symbol:SLC5A6 ; + skos:exactMatch UMLS:C1420205, + UMLS:C5436520, + HGNC:11041, + HGNC_symbol:SLC5A6 ; biolink:category biolink:Gene . OMIM:604025 a owl:Class ; @@ -182881,13 +188743,14 @@ OMIM:604025 a owl:Class ; PMID:28813421 ; RO:0002525 CHR:9606chr17q24.1 ; RO:0003303 OMIM:608615 ; - oboInOwl:hasDbXref UMLS:C1332126 ; oboInOwl:hasExactSynonym "AXIN2", "axis inhibitor 2", "conductin, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8313 ; - skos:exactMatch HGNC_symbol:AXIN2 ; + skos:exactMatch UMLS:C1332126, + HGNC:904, + HGNC_symbol:AXIN2 ; biolink:category biolink:Gene . OMIM:604026 a owl:Class ; @@ -182898,14 +188761,15 @@ OMIM:604026 a owl:Class ; PMID:8638159, PMID:9349823, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1415179 ; oboInOwl:hasExactSynonym "GOSR1", "golgi snap receptor complex member 1", "golgi snare, 28-kd", "gos28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9527 ; - skos:exactMatch HGNC_symbol:GOSR1 ; + skos:exactMatch UMLS:C1415179, + HGNC:4430, + HGNC_symbol:GOSR1 ; biolink:category biolink:Gene . OMIM:604027 a owl:Class ; @@ -182919,27 +188783,29 @@ OMIM:604027 a owl:Class ; PMID:9349823 ; RO:0002525 CHR:9606chr17q21.32 ; RO:0003303 OMIM:614018 ; - oboInOwl:hasDbXref UMLS:C1415180 ; oboInOwl:hasExactSynonym "GOSR2", "golgi snap receptor complex member 2", "golgi snare, 27-kd", "membrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9570 ; - skos:exactMatch HGNC_symbol:GOSR2 ; + skos:exactMatch UMLS:C1415180, + HGNC:4431, + HGNC_symbol:GOSR2 ; biolink:category biolink:Gene . OMIM:604028 a owl:Class ; rdfs:label "SEC22C" ; IAO:0000142 PMID:11001058, PMID:9501016 ; - oboInOwl:hasDbXref UMLS:C1822668 ; oboInOwl:hasExactSynonym "SEC22C", "sec22 homolog c, vesicle trafficking protein", "secretion deficient 22, s. cerevisiae, homolog of, c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9117 ; - skos:exactMatch HGNC_symbol:SEC22C ; + skos:exactMatch UMLS:C1822668, + HGNC:16828, + HGNC_symbol:SEC22C ; biolink:category biolink:Gene . OMIM:604029 a owl:Class ; @@ -182947,27 +188813,29 @@ OMIM:604029 a owl:Class ; IAO:0000142 PMID:11001058, PMID:9094723, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1419924 ; oboInOwl:hasExactSynonym "SEC22B", "sec22 homolog b, vesicle trafficking protein", "secretion deficient 22, s. cerevisiae, homolog-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9554 ; - skos:exactMatch HGNC_symbol:SEC22B ; + skos:exactMatch UMLS:C1419924, + HGNC:10700, + HGNC_symbol:SEC22B ; biolink:category biolink:Gene . OMIM:604030 a owl:Class ; rdfs:label "PSMB7" ; IAO:0000142 PMID:8666937, PMID:8811196 ; - oboInOwl:hasDbXref UMLS:C1419017 ; oboInOwl:hasExactSynonym "PSMB7", "proteasome subunit beta-2", "proteasome subunit z", "proteasome subunit, beta-type, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5695 ; - skos:exactMatch HGNC_symbol:PSMB7 ; + skos:exactMatch UMLS:C1419017, + HGNC:9544, + HGNC_symbol:PSMB7 ; biolink:category biolink:Gene . OMIM:604031 a owl:Class ; @@ -182988,14 +188856,15 @@ OMIM:604031 a owl:Class ; PMID:2428815, PMID:26098370, PMID:7909540 ; - oboInOwl:hasDbXref UMLS:C1419846 ; oboInOwl:hasExactSynonym "SCD", "delta-9-desaturase", "scd1", "stearoyl-coa desaturase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6319 ; - skos:exactMatch HGNC_symbol:SCD ; + skos:exactMatch UMLS:C1419846, + HGNC:10571, + HGNC_symbol:SCD ; biolink:category biolink:Gene . OMIM:604032 a owl:Class ; @@ -183015,14 +188884,15 @@ OMIM:604032 a owl:Class ; PMID:9819435 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:226980 ; - oboInOwl:hasDbXref UMLS:C1414326 ; oboInOwl:hasExactSynonym "EIF2AK3", "eukaryotic translation initiation factor 2-alpha kinase 3", "pancreatic eif2-alpha kinase", "perk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9451 ; - skos:exactMatch HGNC_symbol:EIF2AK3 ; + skos:exactMatch UMLS:C1414326, + HGNC:3255, + HGNC_symbol:EIF2AK3 ; biolink:category biolink:Gene . OMIM:604033 a owl:Class ; @@ -183049,38 +188919,41 @@ OMIM:604033 a owl:Class ; PMID:31320508, PMID:9637683, PMID:9755171 ; - oboInOwl:hasDbXref UMLS:C1414444 ; oboInOwl:hasExactSynonym "ERN1", "endoplasmic reticulum-to-nucleus signaling 1", "inositol-requiring enzyme 1, s. cerevisiae, homolog of", "ire1-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2081 ; - skos:exactMatch HGNC_symbol:ERN1 ; + skos:exactMatch UMLS:C1414444, + HGNC:3449, + HGNC_symbol:ERN1 ; biolink:category biolink:Gene . OMIM:604034 a owl:Class ; rdfs:label "ERN2" ; IAO:0000142 PMID:9755171 ; - oboInOwl:hasDbXref UMLS:C1424653 ; oboInOwl:hasExactSynonym "ERN2", "endoplasmic reticulum-to-nucleus signaling 2", "inositol-requiring enzyme 1, s. cerevisiae, homolog of, beta", "ire1-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10595 ; - skos:exactMatch HGNC_symbol:ERN2 ; + skos:exactMatch UMLS:C1424653, + HGNC:16942, + HGNC_symbol:ERN2 ; biolink:category biolink:Gene . OMIM:604035 a owl:Class ; rdfs:label "CYLC2" ; IAO:0000142 PMID:7737358 ; - oboInOwl:hasDbXref UMLS:C1413849 ; oboInOwl:hasExactSynonym "CYLC2", "cylicin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1539 ; - skos:exactMatch HGNC_symbol:CYLC2 ; + skos:exactMatch UMLS:C1413849, + HGNC:2583, + HGNC_symbol:CYLC2 ; biolink:category biolink:Gene . OMIM:604036 a owl:Class ; @@ -183091,25 +188964,27 @@ OMIM:604036 a owl:Class ; PMID:22461610, PMID:9041194, PMID:9843212 ; - oboInOwl:hasDbXref UMLS:C1413170 ; oboInOwl:hasExactSynonym "CCNA1", "cyclin a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8900 ; - skos:exactMatch HGNC_symbol:CCNA1 ; + skos:exactMatch UMLS:C1413170, + HGNC:1577, + HGNC_symbol:CCNA1 ; biolink:category biolink:Gene . OMIM:604037 a owl:Class ; rdfs:label "RAB5C" ; IAO:0000142 PMID:7951316, PMID:8646882 ; - oboInOwl:hasDbXref UMLS:C1419214 ; oboInOwl:hasExactSynonym "RAB5C", "rab-like, formerly", "ras-associated protein rab5c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5878 ; - skos:exactMatch HGNC_symbol:RAB5C ; + skos:exactMatch UMLS:C1419214, + HGNC:9785, + HGNC_symbol:RAB5C ; biolink:category biolink:Gene . OMIM:604038 a owl:Class ; @@ -183117,14 +188992,15 @@ OMIM:604038 a owl:Class ; IAO:0000142 PMID:10339581, PMID:10493834, PMID:11085536 ; - oboInOwl:hasDbXref UMLS:C1415827 ; oboInOwl:hasExactSynonym "HYAL3", "hyaluronidase 3", "hyaluronoglucosaminidase 3", "luca3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8372 ; - skos:exactMatch HGNC_symbol:HYAL3 ; + skos:exactMatch UMLS:C1415827, + HGNC:5322, + HGNC_symbol:HYAL3 ; biolink:category biolink:Gene . OMIM:604039 a owl:Class ; @@ -183135,7 +189011,6 @@ OMIM:604039 a owl:Class ; PMID:16882729, PMID:9734811, PMID:9811929 ; - oboInOwl:hasDbXref UMLS:C1417143 ; oboInOwl:hasExactSynonym "OGA", "meningioma-expressed antigen 5", "nuclear cytoplasmic o-glcnacase and acetyltransferase", @@ -183143,7 +189018,9 @@ OMIM:604039 a owl:Class ; "o-linked n-acetylglucosaminase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10724 ; - skos:exactMatch HGNC_symbol:OGA ; + skos:exactMatch UMLS:C1417143, + HGNC:7056, + HGNC_symbol:OGA ; biolink:category biolink:Gene . OMIM:604040 a owl:Class ; @@ -183166,13 +189043,14 @@ OMIM:604040 a owl:Class ; PMID:9705271 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:613078 ; - oboInOwl:hasDbXref UMLS:C1419239 ; oboInOwl:hasExactSynonym "RAD50", "rad50 double-strand break repair protein", "rad50, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10111 ; - skos:exactMatch HGNC_symbol:RAD50 ; + skos:exactMatch UMLS:C1419239, + HGNC:9816, + HGNC_symbol:RAD50 ; biolink:category biolink:Gene . OMIM:604041 a owl:Class ; @@ -183183,25 +189061,27 @@ OMIM:604041 a owl:Class ; PMID:9653160 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:609180 ; - oboInOwl:hasDbXref UMLS:C1417235 ; oboInOwl:hasExactSynonym "MPDU1", "lec35", "mannose-p-dolichol utilization defect 1", "suppressor of lec15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9526 ; - skos:exactMatch HGNC_symbol:MPDU1 ; + skos:exactMatch UMLS:C1417235, + HGNC:7207, + HGNC_symbol:MPDU1 ; biolink:category biolink:Gene . OMIM:604042 a owl:Class ; rdfs:label "ITGA10" ; IAO:0000142 PMID:9685391 ; - oboInOwl:hasDbXref UMLS:C1416482 ; oboInOwl:hasExactSynonym "ITGA10", "integrin, alpha-10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8515 ; - skos:exactMatch HGNC_symbol:ITGA10 ; + skos:exactMatch UMLS:C1416482, + HGNC:6135, + HGNC_symbol:ITGA10 ; biolink:category biolink:Gene . OMIM:604043 a owl:Class ; @@ -183222,14 +189102,15 @@ OMIM:604043 a owl:Class ; PMID:9583679 ; RO:0002525 CHR:9606chr1q32.3 ; RO:0003303 OMIM:615565 ; - oboInOwl:hasDbXref UMLS:C1417672, - UMLS:C3809954 ; oboInOwl:hasExactSynonym "NEK2", "never 1n mitosis gene a-related kinase 2", "nima-related kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4751 ; - skos:exactMatch HGNC_symbol:NEK2 ; + skos:exactMatch UMLS:C1417672, + UMLS:C3809954, + HGNC:7745, + HGNC_symbol:NEK2 ; biolink:category biolink:Gene . OMIM:604044 a owl:Class ; @@ -183238,13 +189119,14 @@ OMIM:604044 a owl:Class ; PMID:12063396, PMID:7522034, PMID:8274451 ; - oboInOwl:hasDbXref UMLS:C1417673 ; oboInOwl:hasExactSynonym "NEK3", "never 1n mitosis gene a-related kinase 3", "nima-related kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4752 ; - skos:exactMatch HGNC_symbol:NEK3 ; + skos:exactMatch UMLS:C1417673, + HGNC:7746, + HGNC_symbol:NEK3 ; biolink:category biolink:Gene . OMIM:604045 a owl:Class ; @@ -183263,7 +189145,6 @@ OMIM:604045 a owl:Class ; PMID:8943016, PMID:9556550, PMID:9843966 ; - oboInOwl:hasDbXref UMLS:C1826700 ; oboInOwl:hasExactSynonym "PRMT5", "histone synthetic lethal 7, s. cerevisiae, homolog of", "icln-binding protein, 72-kd", @@ -183272,7 +189153,9 @@ OMIM:604045 a owl:Class ; "shk1 kinase-binding protein 1, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10419 ; - skos:exactMatch HGNC_symbol:PRMT5 ; + skos:exactMatch UMLS:C1826700, + HGNC:10894, + HGNC_symbol:PRMT5 ; biolink:category biolink:Gene . OMIM:604046 a owl:Class ; @@ -183281,80 +189164,86 @@ OMIM:604046 a owl:Class ; PMID:10231028, PMID:14707132, PMID:16832045 ; - oboInOwl:hasDbXref UMLS:C1540365 ; oboInOwl:hasExactSynonym "OXSR1", "osr1", "oxidative stress-responsive 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9943 ; - skos:exactMatch HGNC_symbol:OXSR1 ; + skos:exactMatch UMLS:C1540365, + HGNC:8508, + HGNC_symbol:OXSR1 ; biolink:category biolink:Gene . OMIM:604047 a owl:Class ; rdfs:label "SLC22A13" ; IAO:0000142 PMID:10072596, PMID:10231028 ; - oboInOwl:hasDbXref UMLS:C1418182 ; oboInOwl:hasExactSynonym "SLC22A13", "octl1", "organic-cation transporter-like 3", "solute carrier family 22 (organic anion/urate transporter), member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9390 ; - skos:exactMatch HGNC_symbol:SLC22A13 ; + skos:exactMatch UMLS:C1418182, + HGNC:8494, + HGNC_symbol:SLC22A13 ; biolink:category biolink:Gene . OMIM:604048 a owl:Class ; rdfs:label "SLC22A14" ; IAO:0000142 PMID:10072596, PMID:10231028 ; - oboInOwl:hasDbXref UMLS:C1418183 ; oboInOwl:hasExactSynonym "SLC22A14", "octl2", "organic-cation transporter-like 4", "solute carrier family 22, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9389 ; - skos:exactMatch HGNC_symbol:SLC22A14 ; + skos:exactMatch UMLS:C1418183, + HGNC:8495, + HGNC_symbol:SLC22A14 ; biolink:category biolink:Gene . OMIM:604049 a owl:Class ; rdfs:label "XYLB" ; IAO:0000142 PMID:10231028, PMID:9763671 ; - oboInOwl:hasDbXref UMLS:C1421552 ; oboInOwl:hasExactSynonym "XYLB", "xylulokinase", "xylulokinase, h. influenzae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9942 ; - skos:exactMatch HGNC_symbol:XYLB ; + skos:exactMatch UMLS:C1421552, + HGNC:12839, + HGNC_symbol:XYLB ; biolink:category biolink:Gene . OMIM:604050 a owl:Class ; rdfs:label "DLEC1" ; IAO:0000142 PMID:10213508 ; - oboInOwl:hasDbXref UMLS:C1333219 ; oboInOwl:hasExactSynonym "DLEC1", "deleted 1n lung and esophageal cancer 1", "dlc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9940 ; - skos:exactMatch HGNC_symbol:DLEC1 ; + skos:exactMatch UMLS:C1333219, + HGNC:2899, + HGNC_symbol:DLEC1 ; biolink:category biolink:Gene . OMIM:604051 a owl:Class ; rdfs:label "EXOG" ; IAO:0000142 PMID:10231028, PMID:18187503 ; - oboInOwl:hasDbXref UMLS:C1414400 ; oboInOwl:hasExactSynonym "EXOG", "endo/exonuclease, endog-like", "endonuclease g-like 1", "engl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9941 ; - skos:exactMatch HGNC_symbol:EXOG ; + skos:exactMatch UMLS:C1414400, + HGNC:3347, + HGNC_symbol:EXOG ; biolink:category biolink:Gene . OMIM:604052 a owl:Class ; @@ -183368,7 +189257,6 @@ OMIM:604052 a owl:Class ; PMID:9434163, PMID:9872942, PMID:9880523 ; - oboInOwl:hasDbXref UMLS:C1336647 ; oboInOwl:hasExactSynonym "TNFSF15", "tnf ligand-related molecule 1", "tnf15", @@ -183376,19 +189264,22 @@ OMIM:604052 a owl:Class ; "vascular endothelial growth inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9966 ; - skos:exactMatch HGNC_symbol:TNFSF15 ; + skos:exactMatch UMLS:C1336647, + HGNC:11931, + HGNC_symbol:TNFSF15 ; biolink:category biolink:Gene . OMIM:604053 a owl:Class ; rdfs:label "BPNT1" ; IAO:0000142 PMID:10224133 ; - oboInOwl:hasDbXref UMLS:C1412817 ; oboInOwl:hasExactSynonym "3-prime(2-prime),5-prime-bisphosphate nucleotidase 1", "BPNT1", "bisphosphate 3-prime-nucleotidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10380 ; - skos:exactMatch HGNC_symbol:BPNT1 ; + skos:exactMatch UMLS:C1412817, + HGNC:1096, + HGNC_symbol:BPNT1 ; biolink:category biolink:Gene . OMIM:604054 a owl:Class ; @@ -183397,7 +189288,6 @@ OMIM:604054 a owl:Class ; PMID:11992265, PMID:1679347, PMID:2630187 ; - oboInOwl:hasDbXref UMLS:C1412102 ; oboInOwl:hasExactSynonym "3-ketoacyl-coa thiolase, peroxisomal", "3-oxoacyl-coa thiolase, peroxisomal", "ACAA1", @@ -183406,7 +189296,9 @@ OMIM:604054 a owl:Class ; "peroxisomal 3-oxoacyl-coa thiolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30 ; - skos:exactMatch HGNC_symbol:ACAA1 ; + skos:exactMatch UMLS:C1412102, + HGNC:82, + HGNC_symbol:ACAA1 ; biolink:category biolink:Gene . OMIM:604055 a owl:Class ; @@ -183417,21 +189309,21 @@ OMIM:604055 a owl:Class ; PMID:8188698, PMID:8806705, PMID:9228075 ; - oboInOwl:hasDbXref UMLS:C1415881 ; oboInOwl:hasExactSynonym "IDI1", "ipp isomerase", "isopentenyl diphosphate:dimethylallyl diphosphate isomerase", "isopentenyl-diphosphate delta isomerase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3422 ; - skos:exactMatch HGNC_symbol:IDI1 ; + skos:exactMatch UMLS:C1415881, + HGNC:5387, + HGNC_symbol:IDI1 ; biolink:category biolink:Gene . OMIM:604056 a owl:Class ; rdfs:label "HS3ST2" ; IAO:0000142 PMID:9988767, PMID:9988768 ; - oboInOwl:hasDbXref UMLS:C1415728 ; oboInOwl:hasExactSynonym "3ost2", "HS3ST2", "heparan sulfate (glucosamine) 3-o-sulfotransferase 2", @@ -183439,14 +189331,15 @@ OMIM:604056 a owl:Class ; "heparan sulfate-glucosamine 3-sulfotransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9956 ; - skos:exactMatch HGNC_symbol:HS3ST2 ; + skos:exactMatch UMLS:C1415728, + HGNC:5195, + HGNC_symbol:HS3ST2 ; biolink:category biolink:Gene . OMIM:604057 a owl:Class ; rdfs:label "HS3ST3A1" ; IAO:0000142 PMID:9988767, PMID:9988768 ; - oboInOwl:hasDbXref UMLS:C1415729 ; oboInOwl:hasExactSynonym "3ost3a1", "HS3ST3A1", "heparan sulfate (glucosamine) 3-o-sulfotransferase 3a1", @@ -183454,14 +189347,15 @@ OMIM:604057 a owl:Class ; "heparan sulfate-glucosamine 3-sulfotransferase 3a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9955 ; - skos:exactMatch HGNC_symbol:HS3ST3A1 ; + skos:exactMatch UMLS:C1415729, + HGNC:5196, + HGNC_symbol:HS3ST3A1 ; biolink:category biolink:Gene . OMIM:604058 a owl:Class ; rdfs:label "HS3ST3B1" ; IAO:0000142 PMID:9988767, PMID:9988768 ; - oboInOwl:hasDbXref UMLS:C1415731 ; oboInOwl:hasExactSynonym "3ost3b1", "HS3ST3B1", "heparan sulfate (glucosamine) 3-o-sulfotransferase 3b1", @@ -183469,13 +189363,14 @@ OMIM:604058 a owl:Class ; "heparan sulfate-glucosamine 3-sulfotransferase 3b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9953 ; - skos:exactMatch HGNC_symbol:HS3ST3B1 ; + skos:exactMatch UMLS:C1415731, + HGNC:5198, + HGNC_symbol:HS3ST3B1 ; biolink:category biolink:Gene . OMIM:604059 a owl:Class ; rdfs:label "HS3ST4" ; IAO:0000142 PMID:9988767 ; - oboInOwl:hasDbXref UMLS:C1415733 ; oboInOwl:hasExactSynonym "3ost4", "HS3ST4", "heparan sulfate (glucosamine) 3-o-sulfotransferase 4", @@ -183483,7 +189378,9 @@ OMIM:604059 a owl:Class ; "heparan sulfate-glucosamine 3-sulfotransferase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9951 ; - skos:exactMatch HGNC_symbol:HS3ST4 ; + skos:exactMatch UMLS:C1415733, + HGNC:5200, + HGNC_symbol:HS3ST4 ; biolink:category biolink:Gene . OMIM:604061 a owl:Class ; @@ -183505,7 +189402,6 @@ OMIM:604061 a owl:Class ; PMID:19939853 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:162100 ; - oboInOwl:hasDbXref UMLS:C1539750 ; oboInOwl:hasExactSynonym "SEPT9", "kiaa0991", "mll septin-like fusion gene", @@ -183515,14 +189411,15 @@ OMIM:604061 a owl:Class ; "sint1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10801 ; - skos:exactMatch HGNC_symbol:SEPTIN9 ; + skos:exactMatch UMLS:C1539750, + HGNC:7323, + HGNC_symbol:SEPTIN9 ; biolink:category biolink:Gene . OMIM:604062 a owl:Class ; rdfs:label "MED16" ; IAO:0000142 PMID:10198638, PMID:9671713 ; - oboInOwl:hasDbXref UMLS:C1424995 ; oboInOwl:hasExactSynonym "MED16", "mediator complex subunit 16", "thyroid hormone receptor-associated protein 5", @@ -183530,7 +189427,9 @@ OMIM:604062 a owl:Class ; "vitamin d receptor-interacting protein, 92-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10025 ; - skos:exactMatch HGNC_symbol:MED16 ; + skos:exactMatch UMLS:C1424995, + HGNC:17556, + HGNC_symbol:MED16 ; biolink:category biolink:Gene . OMIM:604063 a owl:Class ; @@ -183541,12 +189440,13 @@ OMIM:604063 a owl:Class ; PMID:9054500 ; RO:0002525 CHR:9606chr10p13 ; RO:0003303 OMIM:191830 ; - oboInOwl:hasDbXref UMLS:C1416490 ; oboInOwl:hasExactSynonym "ITGA8", "integrin, alpha-8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8516 ; - skos:exactMatch HGNC_symbol:ITGA8 ; + skos:exactMatch UMLS:C1416490, + HGNC:6144, + HGNC_symbol:ITGA8 ; biolink:category biolink:Gene . OMIM:604064 a owl:Class ; @@ -183568,14 +189468,15 @@ OMIM:604064 a owl:Class ; PMID:2516827, PMID:26912861, PMID:32132707 ; - oboInOwl:hasDbXref UMLS:C1412617 ; oboInOwl:hasExactSynonym "ATF4", "activating transcription factor 4", "cyclic amp response element-binding protein 2", "tax-responsive enhancer element-binding protein 67" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:468 ; - skos:exactMatch HGNC_symbol:ATF4 ; + skos:exactMatch UMLS:C1412617, + HGNC:786, + HGNC_symbol:ATF4 ; biolink:category biolink:Gene . OMIM:604065 a owl:Class ; @@ -183590,26 +189491,28 @@ OMIM:604065 a owl:Class ; PMID:9495342 ; RO:0002525 CHR:9606chr17q21.33 ; RO:0003303 OMIM:618087 ; - oboInOwl:hasDbXref UMLS:C1413061 ; oboInOwl:hasExactSynonym "CACNA1G", "calcium channel, voltage-dependent, t type, alpha-1g subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8913 ; - skos:exactMatch HGNC_symbol:CACNA1G ; + skos:exactMatch UMLS:C1413061, + HGNC:1394, + HGNC_symbol:CACNA1G ; biolink:category biolink:Gene . OMIM:604066 a owl:Class ; rdfs:label "B3GALT5" ; IAO:0000142 PMID:10212226, PMID:11486087 ; - oboInOwl:hasDbXref UMLS:C1412715 ; oboInOwl:hasExactSynonym "B3GALT5", "beta-3-galactosyltransferase 5", "beta-3-galt5", "udp-gal:beta-glcnac beta-1,3-galactosyltransferase, polypeptide 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10317 ; - skos:exactMatch HGNC_symbol:B3GALT5 ; + skos:exactMatch UMLS:C1412715, + HGNC:920, + HGNC_symbol:B3GALT5 ; biolink:category biolink:Gene . OMIM:604067 a owl:Class ; @@ -183627,12 +189530,13 @@ OMIM:604067 a owl:Class ; PMID:9765512 ; RO:0002525 CHR:9606chr17q24.1 ; RO:0003303 OMIM:608415 ; - oboInOwl:hasDbXref UMLS:C1419378 ; oboInOwl:hasExactSynonym "RGS9", "regulator of g protein signaling 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8787 ; - skos:exactMatch HGNC_symbol:RGS9 ; + skos:exactMatch UMLS:C1419378, + HGNC:10004, + HGNC_symbol:RGS9 ; biolink:category biolink:Gene . OMIM:604068 a owl:Class ; @@ -183641,13 +189545,14 @@ OMIM:604068 a owl:Class ; PMID:8812487, PMID:9484778, PMID:9838088 ; - oboInOwl:hasDbXref UMLS:C1336662 ; oboInOwl:hasExactSynonym "TPD52", "d52", "tumor protein d52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7163 ; - skos:exactMatch HGNC_symbol:TPD52 ; + skos:exactMatch UMLS:C1336662, + HGNC:12005, + HGNC_symbol:TPD52 ; biolink:category biolink:Gene . OMIM:604069 a owl:Class ; @@ -183656,13 +189561,14 @@ OMIM:604069 a owl:Class ; PMID:9484778, PMID:9730602, PMID:9838088 ; - oboInOwl:hasDbXref UMLS:C1336661 ; oboInOwl:hasExactSynonym "TPD52L1", "d53", "tumor protein d52-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7164 ; - skos:exactMatch HGNC_symbol:TPD52L1 ; + skos:exactMatch UMLS:C1336661, + HGNC:12006, + HGNC_symbol:TPD52L1 ; biolink:category biolink:Gene . OMIM:604070 a owl:Class ; @@ -183671,7 +189577,6 @@ OMIM:604070 a owl:Class ; PMID:11719522, PMID:7689223, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1414030 ; oboInOwl:hasExactSynonym "DGKB", "dgk, 90-kd", "dgk-beta", @@ -183679,7 +189584,9 @@ OMIM:604070 a owl:Class ; "kiaa0718" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1607 ; - skos:exactMatch HGNC_symbol:DGKB ; + skos:exactMatch UMLS:C1414030, + HGNC:2850, + HGNC_symbol:DGKB ; biolink:category biolink:Gene . OMIM:604071 a owl:Class ; @@ -183687,26 +189594,28 @@ OMIM:604071 a owl:Class ; IAO:0000142 PMID:10206945, PMID:12810723, PMID:8702685 ; - oboInOwl:hasDbXref UMLS:C1414034 ; oboInOwl:hasExactSynonym "DGKH", "dgk-eta", "diacylglycerol kinase, eta, 130-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160851 ; - skos:exactMatch HGNC_symbol:DGKH ; + skos:exactMatch UMLS:C1414034, + HGNC:2854, + HGNC_symbol:DGKH ; biolink:category biolink:Gene . OMIM:604072 a owl:Class ; rdfs:label "DGKI" ; IAO:0000142 PMID:8248222, PMID:9830018 ; - oboInOwl:hasDbXref UMLS:C1414035 ; oboInOwl:hasExactSynonym "DGKI", "dgk-iota", "diacylglycerol kinase, iota, 130-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9162 ; - skos:exactMatch HGNC_symbol:DGKI ; + skos:exactMatch UMLS:C1414035, + HGNC:2855, + HGNC_symbol:DGKI ; biolink:category biolink:Gene . OMIM:604073 a owl:Class ; @@ -183714,24 +189623,26 @@ OMIM:604073 a owl:Class ; IAO:0000142 PMID:23404503, PMID:7557990, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421623 ; oboInOwl:hasExactSynonym "ZNF131", "zinc finger protein 131" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7690 ; - skos:exactMatch HGNC_symbol:ZNF131 ; + skos:exactMatch UMLS:C1421623, + HGNC:12915, + HGNC_symbol:ZNF131 ; biolink:category biolink:Gene . OMIM:604074 a owl:Class ; rdfs:label "ZNF132" ; IAO:0000142 PMID:7557990, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421624 ; oboInOwl:hasExactSynonym "ZNF132", "zinc finger protein 132" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7691 ; - skos:exactMatch HGNC_symbol:ZNF132 ; + skos:exactMatch UMLS:C1421624, + HGNC:12916, + HGNC_symbol:ZNF132 ; biolink:category biolink:Gene . OMIM:604075 a owl:Class ; @@ -183740,36 +189651,39 @@ OMIM:604075 a owl:Class ; PMID:7649249, PMID:8183939, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421625 ; oboInOwl:hasExactSynonym "ZNF133", "zinc finger protein 133" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7692 ; - skos:exactMatch HGNC_symbol:ZNF133 ; + skos:exactMatch UMLS:C1421625, + HGNC:12917, + HGNC_symbol:ZNF133 ; biolink:category biolink:Gene . OMIM:604076 a owl:Class ; rdfs:label "ZNF134" ; IAO:0000142 PMID:7557990, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421626 ; oboInOwl:hasExactSynonym "ZNF134", "zinc finger protein 134" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7693 ; - skos:exactMatch HGNC_symbol:ZNF134 ; + skos:exactMatch UMLS:C1421626, + HGNC:12918, + HGNC_symbol:ZNF134 ; biolink:category biolink:Gene . OMIM:604077 a owl:Class ; rdfs:label "ZNF135" ; IAO:0000142 PMID:7557990, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421627 ; oboInOwl:hasExactSynonym "ZNF135", "zinc finger protein 135" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7694 ; - skos:exactMatch HGNC_symbol:ZNF135 ; + skos:exactMatch UMLS:C1421627, + HGNC:12919, + HGNC_symbol:ZNF135 ; biolink:category biolink:Gene . OMIM:604078 a owl:Class ; @@ -183777,36 +189691,39 @@ OMIM:604078 a owl:Class ; IAO:0000142 PMID:7557990, PMID:7649249, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421628 ; oboInOwl:hasExactSynonym "ZNF136", "zinc finger protein 136" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7695 ; - skos:exactMatch HGNC_symbol:ZNF136 ; + skos:exactMatch UMLS:C1421628, + HGNC:12920, + HGNC_symbol:ZNF136 ; biolink:category biolink:Gene . OMIM:604079 a owl:Class ; rdfs:label "ZNF137" ; IAO:0000142 PMID:7557990, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421629 ; oboInOwl:hasExactSynonym "ZNF137", "zinc finger protein 137" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7696 ; - skos:exactMatch HGNC_symbol:ZNF137P ; + skos:exactMatch UMLS:C1421629, + HGNC:12921, + HGNC_symbol:ZNF137P ; biolink:category biolink:Gene . OMIM:604080 a owl:Class ; rdfs:label "ZNF138" ; IAO:0000142 PMID:7557990, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421630 ; oboInOwl:hasExactSynonym "ZNF138", "zinc finger protein 138" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7697 ; - skos:exactMatch HGNC_symbol:ZNF138 ; + skos:exactMatch UMLS:C1421630, + HGNC:12922, + HGNC_symbol:ZNF138 ; biolink:category biolink:Gene . OMIM:604081 a owl:Class ; @@ -183819,12 +189736,13 @@ OMIM:604082 a owl:Class ; PMID:7649249, PMID:8183939, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421632 ; oboInOwl:hasExactSynonym "ZNF140", "zinc finger protein 140" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7699 ; - skos:exactMatch HGNC_symbol:ZNF140 ; + skos:exactMatch UMLS:C1421632, + HGNC:12925, + HGNC_symbol:ZNF140 ; biolink:category biolink:Gene . OMIM:604083 a owl:Class ; @@ -183835,12 +189753,13 @@ OMIM:604083 a owl:Class ; PMID:9039502 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:618425 ; - oboInOwl:hasDbXref UMLS:C1421634 ; oboInOwl:hasExactSynonym "ZNF142", "zinc finger protein 142" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7701 ; - skos:exactMatch HGNC_symbol:ZNF142 ; + skos:exactMatch UMLS:C1421634, + HGNC:12927, + HGNC_symbol:ZNF142 ; biolink:category biolink:Gene . OMIM:604084 a owl:Class ; @@ -183851,38 +189770,41 @@ OMIM:604084 a owl:Class ; PMID:7557990, PMID:8268908, PMID:9312026 ; - oboInOwl:hasDbXref UMLS:C1421641 ; oboInOwl:hasExactSynonym "ZBTB17", "myc-interacting zinc finger protein 1", "zinc finger protein 151", "zinc finger- and btb domain-containing protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7709 ; - skos:exactMatch HGNC_symbol:ZBTB17 ; + skos:exactMatch UMLS:C1421641, + HGNC:12936, + HGNC_symbol:ZBTB17 ; biolink:category biolink:Gene . OMIM:604085 a owl:Class ; rdfs:label "ZNF154" ; IAO:0000142 PMID:7557990, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421642 ; oboInOwl:hasExactSynonym "ZNF154", "zinc finger protein 154" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7710 ; - skos:exactMatch HGNC_symbol:ZNF154 ; + skos:exactMatch UMLS:C1421642, + HGNC:12939, + HGNC_symbol:ZNF154 ; biolink:category biolink:Gene . OMIM:604086 a owl:Class ; rdfs:label "ZNF155" ; IAO:0000142 PMID:7557990, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1421643 ; oboInOwl:hasExactSynonym "ZNF155", "zinc finger protein 155" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7711 ; - skos:exactMatch HGNC_symbol:ZNF155 ; + skos:exactMatch UMLS:C1421643, + HGNC:12940, + HGNC_symbol:ZNF155 ; biolink:category biolink:Gene . OMIM:604087 a owl:Class ; @@ -183891,14 +189813,15 @@ OMIM:604087 a owl:Class ; PMID:12533083, PMID:12533085, PMID:12686551 ; - oboInOwl:hasDbXref UMLS:C1413885 ; oboInOwl:hasExactSynonym "CYP46A1", "cholesterol 24-hydroxylase", "cytochrome p450, family 46, subfamily a, polypeptide 1", "cytochrome p450, subfamily 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10858 ; - skos:exactMatch HGNC_symbol:CYP46A1 ; + skos:exactMatch UMLS:C1413885, + HGNC:2641, + HGNC_symbol:CYP46A1 ; biolink:category biolink:Gene . OMIM:604088 a owl:Class ; @@ -183907,14 +189830,15 @@ OMIM:604088 a owl:Class ; PMID:12955585 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:143890 ; - oboInOwl:hasDbXref UMLS:C1424668 ; oboInOwl:hasExactSynonym "PP1R17", "chromosome 7 open reading frame 16", "g-substrate", "protein phosphatase 1 regulatory subunit 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10842 ; - skos:exactMatch HGNC_symbol:PPP1R17 ; + skos:exactMatch UMLS:C1424668, + HGNC:16973, + HGNC_symbol:PPP1R17 ; biolink:category biolink:Gene . OMIM:604089 a owl:Class ; @@ -183922,13 +189846,14 @@ OMIM:604089 a owl:Class ; IAO:0000142 PMID:10426994, PMID:12426564, PMID:12740575 ; - oboInOwl:hasDbXref UMLS:C1424670 ; oboInOwl:hasExactSynonym "HCST", "dnax-activation protein 10", "hematopoietic cell signal transducer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10870 ; - skos:exactMatch HGNC_symbol:HCST ; + skos:exactMatch UMLS:C1424670, + HGNC:16977, + HGNC_symbol:HCST ; biolink:category biolink:Gene . OMIM:604090 a owl:Class ; @@ -183936,7 +189861,6 @@ OMIM:604090 a owl:Class ; IAO:0000142 PMID:12657639, PMID:9628581, PMID:9738934 ; - oboInOwl:hasDbXref UMLS:C1414066 ; oboInOwl:hasExactSynonym "DLG5", "discs large maguk scaffold protein 5", "discs large, drosophila, homolog of, 5", @@ -183944,7 +189868,9 @@ OMIM:604090 a owl:Class ; "placenta and prostate dlg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9231 ; - skos:exactMatch HGNC_symbol:DLG5 ; + skos:exactMatch UMLS:C1414066, + HGNC:2904, + HGNC_symbol:DLG5 ; biolink:category biolink:Gene . OMIM:604091 a owl:Class ; @@ -183953,15 +189879,15 @@ OMIM:604091 a owl:Class ; PMID:7586512, PMID:7627690, PMID:9888879 ; - oboInOwl:hasDbXref UMLS:C1704429, - UMLS:C2931838, - UMLS:C5193015 ; oboInOwl:hasExactSynonym "familial hdl deficiency", "hdl cholesterol, low serum", "high density lipoprotein cholesterol level quantitative trait locus 13", "high density lipoprotein deficiency", "hypoalphalipoproteinemia, familial", "hypoalphalipoproteinemia, primary, 1" ; + skos:exactMatch UMLS:C1704429, + UMLS:C2931838, + UMLS:C5193015 ; biolink:category biolink:Disease . OMIM:604092 a owl:Class ; @@ -183977,7 +189903,6 @@ OMIM:604092 a owl:Class ; PMID:26068855, PMID:7678926, PMID:7737118 ; - oboInOwl:hasDbXref UMLS:C1336688 ; oboInOwl:hasExactSynonym "TTK", "esk, mouse, homolog of", "monopolar spindle 1-like 1", @@ -183986,7 +189911,9 @@ OMIM:604092 a owl:Class ; "ttk protein kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7272 ; - skos:exactMatch HGNC_symbol:TTK ; + skos:exactMatch UMLS:C1336688, + HGNC:12401, + HGNC_symbol:TTK ; biolink:category biolink:Gene . OMIM:604094 a owl:Class ; @@ -184002,7 +189929,6 @@ OMIM:604094 a owl:Class ; PMID:30046110 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:617243 ; - oboInOwl:hasDbXref UMLS:C1416960 ; oboInOwl:hasExactSynonym "MAD2L2", "mad2b", "mitotic arrest-deficient 2 like 2", @@ -184010,7 +189936,9 @@ OMIM:604094 a owl:Class ; "rev7, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10459 ; - skos:exactMatch HGNC_symbol:MAD2L2 ; + skos:exactMatch UMLS:C1416960, + HGNC:6764, + HGNC_symbol:MAD2L2 ; biolink:category biolink:Gene . OMIM:604095 a owl:Class ; @@ -184035,7 +189963,6 @@ OMIM:604095 a owl:Class ; PMID:18816645 ; RO:0002525 CHR:9606chr2q13 ; RO:0003303 OMIM:612630 ; - oboInOwl:hasDbXref UMLS:C1414061 ; oboInOwl:hasExactSynonym "EDAR", "downless, mouse, homolog of", "ectodysplasin 1, anhidrotic receptor", @@ -184046,7 +189973,9 @@ OMIM:604095 a owl:Class ; "eda1r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10913 ; - skos:exactMatch HGNC_symbol:EDAR ; + skos:exactMatch UMLS:C1414061, + HGNC:2895, + HGNC_symbol:EDAR ; biolink:category biolink:Gene . OMIM:604096 a owl:Class ; @@ -184060,13 +189989,14 @@ OMIM:604096 a owl:Class ; PMID:9215706 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:257270 ; - oboInOwl:hasDbXref UMLS:C1333713 ; oboInOwl:hasExactSynonym "GRM6", "glutamate receptor, metabotropic, 6", "mglur6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2916 ; - skos:exactMatch HGNC_symbol:GRM6 ; + skos:exactMatch UMLS:C1333713, + HGNC:4598, + HGNC_symbol:GRM6 ; biolink:category biolink:Gene . OMIM:604097 a owl:Class ; @@ -184075,25 +190005,27 @@ OMIM:604097 a owl:Class ; PMID:12076554, PMID:2864726, PMID:9861051 ; - oboInOwl:hasDbXref UMLS:C1421413 ; oboInOwl:hasExactSynonym "UTS2", "urotensin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10911 ; - skos:exactMatch HGNC_symbol:UTS2 ; + skos:exactMatch UMLS:C1421413, + HGNC:12636, + HGNC_symbol:UTS2 ; biolink:category biolink:Gene . OMIM:604098 a owl:Class ; rdfs:label "SUGT1" ; IAO:0000142 PMID:10445024 ; - oboInOwl:hasDbXref UMLS:C1424675 ; oboInOwl:hasExactSynonym "SUGT1", "sgt1", "sgt1 homolog, mis12 kinetochore complex assembly cochaperone", "suppressor of g2 allele of skp1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10910 ; - skos:exactMatch HGNC_symbol:SUGT1 ; + skos:exactMatch UMLS:C1424675, + HGNC:16987, + HGNC_symbol:SUGT1 ; biolink:category biolink:Gene . OMIM:604099 a owl:Class ; @@ -184106,13 +190038,14 @@ OMIM:604099 a owl:Class ; PMID:18297054, PMID:7620613, PMID:8662555 ; - oboInOwl:hasDbXref UMLS:C1415306 ; oboInOwl:hasExactSynonym "GRM2", "glutamate receptor, metabotropic, 2", "mglur2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2912 ; - skos:exactMatch HGNC_symbol:GRM2 ; + skos:exactMatch UMLS:C1415306, + HGNC:4594, + HGNC_symbol:GRM2 ; biolink:category biolink:Gene . OMIM:604100 a owl:Class ; @@ -184124,13 +190057,14 @@ OMIM:604100 a owl:Class ; PMID:8815915, PMID:9473604, PMID:9676970 ; - oboInOwl:hasDbXref UMLS:C1415308 ; oboInOwl:hasExactSynonym "GRM4", "glutamate receptor, metabotropic, 4", "mglur4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2914 ; - skos:exactMatch HGNC_symbol:GRM4 ; + skos:exactMatch UMLS:C1415308, + HGNC:4596, + HGNC_symbol:GRM4 ; biolink:category biolink:Gene . OMIM:604101 a owl:Class ; @@ -184149,14 +190083,15 @@ OMIM:604101 a owl:Class ; PMID:9473604 ; RO:0002525 CHR:9606chr3p26.1 ; RO:0003303 OMIM:618922 ; - oboInOwl:hasDbXref UMLS:C1415309, - UMLS:C5394517 ; oboInOwl:hasExactSynonym "GRM7", "glutamate receptor, metabotropic, 7", "mglur7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2917 ; - skos:exactMatch HGNC_symbol:GRM7 ; + skos:exactMatch UMLS:C1415309, + UMLS:C5394517, + HGNC:4599, + HGNC_symbol:GRM7 ; biolink:category biolink:Gene . OMIM:604102 a owl:Class ; @@ -184175,13 +190110,14 @@ OMIM:604102 a owl:Class ; PMID:7798903, PMID:7908515, PMID:9185557 ; - oboInOwl:hasDbXref UMLS:C1333712 ; oboInOwl:hasExactSynonym "GRM5", "glutamate receptor, metabotropic, 5", "mglur5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2915 ; - skos:exactMatch HGNC_symbol:GRM5 ; + skos:exactMatch UMLS:C1333712, + HGNC:4597, + HGNC_symbol:GRM5 ; biolink:category biolink:Gene . OMIM:604103 a owl:Class ; @@ -184198,14 +190134,15 @@ OMIM:604103 a owl:Class ; PMID:571956 ; RO:0002525 CHR:9606chr5q31.2 ; RO:0003303 OMIM:182920 ; - oboInOwl:hasDbXref UMLS:C1826332 ; oboInOwl:hasExactSynonym "MYOT", "myo", "myotilin", "titin immunoglobulin domain protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9499 ; - skos:exactMatch HGNC_symbol:MYOT ; + skos:exactMatch UMLS:C1826332, + HGNC:12399, + HGNC_symbol:MYOT ; biolink:category biolink:Gene . OMIM:604104 a owl:Class ; @@ -184213,13 +190150,14 @@ OMIM:604104 a owl:Class ; IAO:0000142 PMID:10541589, PMID:9545571, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1415133 ; oboInOwl:hasExactSynonym "GMFG", "glia maturation factor, gamma", "gmf-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9535 ; - skos:exactMatch HGNC_symbol:GMFG ; + skos:exactMatch UMLS:C1415133, + HGNC:4374, + HGNC_symbol:GMFG ; biolink:category biolink:Gene . OMIM:604105 a owl:Class ; @@ -184230,26 +190168,28 @@ OMIM:604105 a owl:Class ; PMID:9592139 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:258150 ; - oboInOwl:hasDbXref UMLS:C0403810, - UMLS:C1420540 ; oboInOwl:hasExactSynonym "SYCP2", "scp2", "synaptonemal complex protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10388 ; - skos:exactMatch HGNC_symbol:SYCP2 ; + skos:exactMatch UMLS:C0403810, + UMLS:C1420540, + HGNC:11490, + HGNC_symbol:SYCP2 ; biolink:category biolink:Gene . OMIM:604106 a owl:Class ; rdfs:label "GPR52" ; IAO:0000142 PMID:32076264, PMID:9931487 ; - oboInOwl:hasDbXref UMLS:C1415243 ; oboInOwl:hasExactSynonym "GPR52", "g protein-coupled receptor 52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9293 ; - skos:exactMatch HGNC_symbol:GPR52 ; + skos:exactMatch UMLS:C1415243, + HGNC:4508, + HGNC_symbol:GPR52 ; biolink:category biolink:Gene . OMIM:604107 a owl:Class ; @@ -184258,12 +190198,13 @@ OMIM:604107 a owl:Class ; PMID:18263732, PMID:26315437, PMID:9931487 ; - oboInOwl:hasDbXref UMLS:C1415245 ; oboInOwl:hasExactSynonym "GPR55", "g protein-coupled receptor 55" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9290 ; - skos:exactMatch HGNC_symbol:GPR55 ; + skos:exactMatch UMLS:C1415245, + HGNC:4511, + HGNC_symbol:GPR55 ; biolink:category biolink:Gene . OMIM:604108 a owl:Class ; @@ -184271,14 +190212,15 @@ OMIM:604108 a owl:Class ; IAO:0000142 PMID:10837026, PMID:22425998, PMID:8408219 ; - oboInOwl:hasDbXref UMLS:C1417023 ; oboInOwl:hasExactSynonym "MAP7", "ensconsin, drosophila, homolog of", "microtubule-associated protein 7", "microtubule-associated protein, epithelial, 115-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9053 ; - skos:exactMatch HGNC_symbol:MAP7 ; + skos:exactMatch UMLS:C1417023, + HGNC:6869, + HGNC_symbol:MAP7 ; biolink:category biolink:Gene . OMIM:604109 a owl:Class ; @@ -184286,13 +190228,14 @@ OMIM:604109 a owl:Class ; IAO:0000142 PMID:10329003, PMID:8382789, PMID:9027484 ; - oboInOwl:hasDbXref UMLS:C1415539 ; oboInOwl:hasExactSynonym "HHLA1", "herv-h ltr-associating 1", "human endogenous retrovirus-h long terminal repeat-associating 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10086 ; - skos:exactMatch HGNC_symbol:HHLA1 ; + skos:exactMatch UMLS:C1415539, + HGNC:4904, + HGNC_symbol:HHLA1 ; biolink:category biolink:Gene . OMIM:604110 a owl:Class ; @@ -184307,38 +190250,41 @@ OMIM:604110 a owl:Class ; PMID:24531968 ; RO:0002525 CHR:9606chr16q21 ; RO:0003303 OMIM:615752 ; - oboInOwl:hasDbXref UMLS:C1415246 ; oboInOwl:hasExactSynonym "7-transmembrane protein with no egf-like n-terminal domains 1", "ADGRG1", "adhesion g protein-coupled receptor g1", "g protein-coupled receptor 56" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9289 ; - skos:exactMatch HGNC_symbol:ADGRG1 ; + skos:exactMatch UMLS:C1415246, + HGNC:4512, + HGNC_symbol:ADGRG1 ; biolink:category biolink:Gene . OMIM:604111 a owl:Class ; rdfs:label "KCNAB3" ; IAO:0000142 PMID:9857044 ; - oboInOwl:hasDbXref UMLS:C1416553 ; oboInOwl:hasExactSynonym "KCNAB3", "kcna3b", "kv-beta-3", "potassium channel, voltage-gated, shaker-related subfamily, beta member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9196 ; - skos:exactMatch HGNC_symbol:KCNAB3 ; + skos:exactMatch UMLS:C1416553, + HGNC:6230, + HGNC_symbol:KCNAB3 ; biolink:category biolink:Gene . OMIM:604112 a owl:Class ; rdfs:label "SCEL" ; IAO:0000142 PMID:9813070 ; - oboInOwl:hasDbXref UMLS:C1419848 ; oboInOwl:hasExactSynonym "SCEL", "sciellin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8796 ; - skos:exactMatch HGNC_symbol:SCEL ; + skos:exactMatch UMLS:C1419848, + HGNC:10573, + HGNC_symbol:SCEL ; biolink:category biolink:Gene . OMIM:604113 a owl:Class ; @@ -184352,8 +190298,6 @@ OMIM:604113 a owl:Class ; PMID:32581358 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:618549 ; - oboInOwl:hasDbXref UMLS:C1416392, - UMLS:C5231406 ; oboInOwl:hasExactSynonym "IL18BP", "il18bpa", "il18bpb", @@ -184361,7 +190305,10 @@ OMIM:604113 a owl:Class ; "interleukin 18-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10068 ; - skos:exactMatch HGNC_symbol:IL18BP ; + skos:exactMatch UMLS:C1416392, + UMLS:C5231406, + HGNC:5987, + HGNC_symbol:IL18BP ; biolink:category biolink:Gene . OMIM:604114 a owl:Class ; @@ -184378,12 +190325,13 @@ OMIM:604114 a owl:Class ; PMID:8781424, PMID:9925923 ; RO:0002525 CHR:9606chr15q15.1 ; - oboInOwl:hasDbXref UMLS:C1418631 ; oboInOwl:hasExactSynonym "PLCB2", "phospholipase c, beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5330 ; - skos:exactMatch HGNC_symbol:PLCB2 ; + skos:exactMatch UMLS:C1418631, + HGNC:9055, + HGNC_symbol:PLCB2 ; biolink:category biolink:Gene . OMIM:604115 a owl:Class ; @@ -184405,13 +190353,14 @@ OMIM:604115 a owl:Class ; PMID:21920939 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:130650 ; - oboInOwl:hasDbXref UMLS:C1416613 ; oboInOwl:hasExactSynonym "KCNQ1OT1", "kcnq1-overlapping transcript 1", "long qt intronic transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10984 ; - skos:exactMatch HGNC_symbol:KCNQ1OT1 ; + skos:exactMatch UMLS:C1416613, + HGNC:6295, + HGNC_symbol:KCNQ1OT1 ; biolink:category biolink:Gene . OMIM:604116 a owl:Class ; @@ -184423,11 +190372,11 @@ OMIM:604116 a owl:Class ; PMID:14709597, PMID:16896346, PMID:9466990 ; - oboInOwl:hasDbXref UMLS:C1858806, - ORPHA:1872 ; oboInOwl:hasExactSynonym "CORD3", "cone-rod dystrophy 3" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1858806, + ORPHA:1872 ; biolink:category biolink:Disease . OMIM:604118 a owl:Class ; @@ -184435,14 +190384,15 @@ OMIM:604118 a owl:Class ; IAO:0000142 PMID:17640920, PMID:20418885, PMID:9751798 ; - oboInOwl:hasDbXref UMLS:C1419279 ; oboInOwl:hasExactSynonym "RASAL1", "ras protein activator-like 1", "ras-gtpase-activating protein-like", "rasgap1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8437 ; - skos:exactMatch HGNC_symbol:RASAL1 ; + skos:exactMatch UMLS:C1419279, + HGNC:9873, + HGNC_symbol:RASAL1 ; biolink:category biolink:Gene . OMIM:604119 a owl:Class ; @@ -184450,13 +190400,14 @@ OMIM:604119 a owl:Class ; IAO:0000142 PMID:8268911, PMID:8663127, PMID:9516379 ; - oboInOwl:hasDbXref UMLS:C1420093 ; oboInOwl:hasExactSynonym "SLC12A4", "potassium-chloride cotransporter 1", "solute carrier family 12 (potassium/chloride transporter), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6560 ; - skos:exactMatch HGNC_symbol:SLC12A4 ; + skos:exactMatch UMLS:C1420093, + HGNC:10913, + HGNC_symbol:SLC12A4 ; biolink:category biolink:Gene . OMIM:604120 a owl:Class ; @@ -184468,9 +190419,9 @@ OMIM:604121 a owl:Class ; IAO:0000142 PMID:10599806, PMID:22328086, PMID:8747854 ; - oboInOwl:hasDbXref UMLS:C3807295 ; oboInOwl:hasExactSynonym "ADCADN", "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" ; + skos:exactMatch UMLS:C3807295 ; biolink:category biolink:Disease . OMIM:604122 a owl:Class ; @@ -184484,13 +190435,14 @@ OMIM:604122 a owl:Class ; PMID:8861954 ; RO:0002525 CHR:9606chr15q21.3 ; RO:0003303 OMIM:618580 ; - oboInOwl:hasDbXref UMLS:C1418560, - UMLS:C5231418 ; oboInOwl:hasExactSynonym "PIGB", "phosphatidylinositol glycan anchor biosynthesis class B protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9488 ; - skos:exactMatch HGNC_symbol:PIGB ; + skos:exactMatch UMLS:C1418560, + UMLS:C5231418, + HGNC:8959, + HGNC_symbol:PIGB ; biolink:category biolink:Gene . OMIM:604123 a owl:Class ; @@ -184502,13 +190454,14 @@ OMIM:604123 a owl:Class ; PMID:9799596 ; RO:0002525 CHR:9606chr2p25.3 ; RO:0003303 OMIM:616479 ; - oboInOwl:hasDbXref UMLS:C1425532 ; oboInOwl:hasExactSynonym "RNASEH1", "h1rna", "ribonuclease h1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246243 ; - skos:exactMatch HGNC_symbol:RNASEH1 ; + skos:exactMatch UMLS:C1425532, + HGNC:18466, + HGNC_symbol:RNASEH1 ; biolink:category biolink:Gene . OMIM:604124 a owl:Class ; @@ -184534,14 +190487,15 @@ OMIM:604124 a owl:Class ; PMID:9811458 ; RO:0002525 CHR:9606chr18q11.2 ; RO:0003303 OMIM:606744 ; - oboInOwl:hasDbXref UMLS:C1419293 ; oboInOwl:hasExactSynonym "RBBP8", "ctbp-interacting protein", "retinoblastoma-binding protein 8", "retinoblastoma-interacting and myosin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5932 ; - skos:exactMatch HGNC_symbol:RBBP8 ; + skos:exactMatch UMLS:C1419293, + HGNC:9891, + HGNC_symbol:RBBP8 ; biolink:category biolink:Gene . OMIM:604125 a owl:Class ; @@ -184553,12 +190507,13 @@ OMIM:604125 a owl:Class ; PMID:9799594 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:617571 ; - oboInOwl:hasDbXref UMLS:C1420520 ; oboInOwl:hasExactSynonym "SULT2B1", "sulfotransferase family 2b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6820 ; - skos:exactMatch HGNC_symbol:SULT2B1 ; + skos:exactMatch UMLS:C1420520, + HGNC:11459, + HGNC_symbol:SULT2B1 ; biolink:category biolink:Gene . OMIM:604126 a owl:Class ; @@ -184568,13 +190523,14 @@ OMIM:604126 a owl:Class ; PMID:9867483 ; RO:0002525 CHR:9606chr10p11.23 ; RO:0003303 OMIM:619040 ; - oboInOwl:hasDbXref UMLS:C1420533, - UMLS:C5436656 ; oboInOwl:hasExactSynonym "SVIL", "supervillin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6840 ; - skos:exactMatch HGNC_symbol:SVIL ; + skos:exactMatch UMLS:C1420533, + UMLS:C5436656, + HGNC:11480, + HGNC_symbol:SVIL ; biolink:category biolink:Gene . OMIM:604127 a owl:Class ; @@ -184585,25 +190541,27 @@ OMIM:604127 a owl:Class ; PMID:9693034 ; RO:0002525 CHR:9606chr1p12 ; RO:0003303 OMIM:260660 ; - oboInOwl:hasDbXref UMLS:C1420605, - UMLS:C1850040 ; oboInOwl:hasExactSynonym "TBX15", "t-box 15", "t-box transcripton factor 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6913 ; - skos:exactMatch HGNC_symbol:TBX15 ; + skos:exactMatch UMLS:C1420605, + UMLS:C1850040, + HGNC:11594, + HGNC_symbol:TBX15 ; biolink:category biolink:Gene . OMIM:604128 a owl:Class ; rdfs:label "TCEA3" ; IAO:0000142 PMID:9790746 ; - oboInOwl:hasDbXref UMLS:C1420625 ; oboInOwl:hasExactSynonym "TCEA3", "transcription elongation factor a, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6920 ; - skos:exactMatch HGNC_symbol:TCEA3 ; + skos:exactMatch UMLS:C1420625, + HGNC:11615, + HGNC_symbol:TCEA3 ; biolink:category biolink:Gene . OMIM:604129 a owl:Class ; @@ -184615,21 +190573,22 @@ OMIM:604129 a owl:Class ; PMID:9182828, PMID:9267744, PMID:9292092 ; - oboInOwl:hasDbXref UMLS:C1275114 ; oboInOwl:hasExactSynonym "deb, pruriginosa", "dystrophic epidermolysis bullosa pruriginosa", "epidermolysis bullosa pruriginosa" ; + skos:exactMatch UMLS:C1275114 ; biolink:category biolink:Disease . OMIM:604130 a owl:Class ; rdfs:label "UTF1" ; IAO:0000142 PMID:9748258 ; - oboInOwl:hasDbXref UMLS:C1421411 ; oboInOwl:hasExactSynonym "UTF1", "undifferentiated embryonic cell transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8433 ; - skos:exactMatch HGNC_symbol:UTF1 ; + skos:exactMatch UMLS:C1421411, + HGNC:12634, + HGNC_symbol:UTF1 ; biolink:category biolink:Gene . OMIM:604132 a owl:Class ; @@ -184679,28 +190638,30 @@ OMIM:604134 a owl:Class ; PMID:9828246 ; RO:0002525 CHR:9606chr9q34.2 ; RO:0003303 OMIM:274150 ; - oboInOwl:hasDbXref UMLS:C1268935, - UMLS:C1413036, - UMLS:C5394574 ; oboInOwl:hasExactSynonym "ADAMTS13", "a disintegrin-like and metalloprotease with thrombospondin iia 1 motif, 13", "von willebrand factor-cleaving protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11093 ; - skos:exactMatch HGNC_symbol:ADAMTS13 ; + skos:exactMatch UMLS:C1268935, + UMLS:C1413036, + UMLS:C5394574, + HGNC:1366, + HGNC_symbol:ADAMTS13 ; biolink:category biolink:Gene . OMIM:604135 a owl:Class ; rdfs:label "NFE2L3" ; IAO:0000142 PMID:10037736, PMID:21148084 ; - oboInOwl:hasDbXref UMLS:C1417702 ; oboInOwl:hasExactSynonym "NFE2L3", "nfe2-related factor 3", "nuclear factor erythroid 2-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9603 ; - skos:exactMatch HGNC_symbol:NFE2L3 ; + skos:exactMatch UMLS:C1417702, + HGNC:7783, + HGNC_symbol:NFE2L3 ; biolink:category biolink:Gene . OMIM:604136 a owl:Class ; @@ -184714,14 +190675,15 @@ OMIM:604136 a owl:Class ; PMID:8545104, PMID:8799171, PMID:9826712 ; - oboInOwl:hasDbXref UMLS:C1366521 ; oboInOwl:hasExactSynonym "IL24", "interleukin 24", "melanoma differentiation-associated gene 7", "suppression of tumorigenicity 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11009 ; - skos:exactMatch HGNC_symbol:IL24 ; + skos:exactMatch UMLS:C1366521, + HGNC:11346, + HGNC_symbol:IL24 ; biolink:category biolink:Gene . OMIM:604137 a owl:Class ; @@ -184733,14 +190695,15 @@ OMIM:604138 a owl:Class ; IAO:0000142 PMID:16229975, PMID:8832110, PMID:9857033 ; - oboInOwl:hasDbXref UMLS:C1539598 ; oboInOwl:hasExactSynonym "GPRC5A", "g protein-coupled receptor, family c, group 5, member a", "retinoic acid-induced 3", "retinoic acid-inducible gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9052 ; - skos:exactMatch HGNC_symbol:GPRC5A ; + skos:exactMatch UMLS:C1539598, + HGNC:9836, + HGNC_symbol:GPRC5A ; biolink:category biolink:Gene . OMIM:604139 a owl:Class ; @@ -184752,14 +190715,15 @@ OMIM:604139 a owl:Class ; PMID:25274842 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:614881 ; - oboInOwl:hasDbXref UMLS:C1415753 ; oboInOwl:hasExactSynonym "DNAJB2", "dnaj/hsp40 homolog, subfamily b, member 2", "heat-shock 40-kd protein 3", "heat-shock protein, dnaj-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3300 ; - skos:exactMatch HGNC_symbol:DNAJB2 ; + skos:exactMatch UMLS:C1415753, + HGNC:5228, + HGNC_symbol:DNAJB2 ; biolink:category biolink:Gene . OMIM:604140 a owl:Class ; @@ -184769,7 +190733,6 @@ OMIM:604140 a owl:Class ; PMID:16127461, PMID:17299043, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1824935 ; oboInOwl:hasExactSynonym "DIDO1", "death inducer-obliterator 1", "death-associated transcription factor 1", @@ -184777,7 +190740,9 @@ OMIM:604140 a owl:Class ; "kiaa0333" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11083 ; - skos:exactMatch HGNC_symbol:DIDO1 ; + skos:exactMatch UMLS:C1824935, + HGNC:2680, + HGNC_symbol:DIDO1 ; biolink:category biolink:Gene . OMIM:604141 a owl:Class ; @@ -184789,7 +190754,6 @@ OMIM:604141 a owl:Class ; PMID:18292223, PMID:8917509, PMID:9371777 ; - oboInOwl:hasDbXref UMLS:C1538920 ; oboInOwl:hasExactSynonym "ARFGEF1", "adp-ribosylation factor guanine nucleotide exchange factor 1", "adp-ribosylation factor-guanine nucleotide exchange protein 1", @@ -184797,7 +190761,9 @@ OMIM:604141 a owl:Class ; "p200" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10565 ; - skos:exactMatch HGNC_symbol:ARFGEF1 ; + skos:exactMatch UMLS:C1538920, + HGNC:15772, + HGNC_symbol:ARFGEF1 ; biolink:category biolink:Gene . OMIM:604142 a owl:Class ; @@ -184814,13 +190780,14 @@ OMIM:604142 a owl:Class ; PMID:9852069 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:221770 ; - oboInOwl:hasDbXref UMLS:C1336692 ; oboInOwl:hasExactSynonym "TYROBP", "dnax-activation protein 12", "tyro protein tyrosine kinase-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7305 ; - skos:exactMatch HGNC_symbol:TYROBP ; + skos:exactMatch UMLS:C1336692, + HGNC:12449, + HGNC_symbol:TYROBP ; biolink:category biolink:Gene . OMIM:604143 a owl:Class ; @@ -184834,7 +190801,6 @@ OMIM:604143 a owl:Class ; PMID:19345191, PMID:32322059, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1424597 ; oboInOwl:hasExactSynonym "ESPL1", "esp1", "extra spindle poles-like 1", @@ -184842,7 +190808,9 @@ OMIM:604143 a owl:Class ; "separin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9700 ; - skos:exactMatch HGNC_symbol:ESPL1 ; + skos:exactMatch UMLS:C1424597, + HGNC:16856, + HGNC_symbol:ESPL1 ; biolink:category biolink:Gene . OMIM:604144 a owl:Class ; @@ -184861,13 +190829,14 @@ OMIM:604144 a owl:Class ; PMID:6031738 ; RO:0002525 CHR:9606chr19q13.11 ; RO:0003303 OMIM:220100 ; - oboInOwl:hasDbXref UMLS:C0010691, - UMLS:C1420228 ; oboInOwl:hasExactSynonym "solute carrier family 7 (cationic amino acid transporter, y+ system), member 9", "solute carrier family 7, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11136 ; - skos:exactMatch HGNC_symbol:SLC7A9 ; + skos:exactMatch UMLS:C0010691, + UMLS:C1420228, + HGNC:11067, + HGNC_symbol:SLC7A9 ; biolink:category biolink:Gene . OMIM:604145 a owl:Class ; @@ -184877,10 +190846,10 @@ OMIM:604145 a owl:Class ; PMID:11846417, PMID:22335739, PMID:26315439 ; - oboInOwl:hasDbXref UMLS:C1858763 ; oboInOwl:hasExactSynonym "CMD1G", "cardiomyopathy, dilated, 1g" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1858763 ; biolink:category biolink:Disease . OMIM:604147 a owl:Class ; @@ -184903,7 +190872,6 @@ OMIM:604147 a owl:Class ; PMID:9892021, PMID:9915854, PMID:9925941 ; - oboInOwl:hasDbXref UMLS:C0919521 ; oboInOwl:hasExactSynonym "PTTG1", "esp1-associated protein 1", "pituitary tumor-transforming gene 1", @@ -184913,7 +190881,9 @@ OMIM:604147 a owl:Class ; "tumor-transforming 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9232 ; - skos:exactMatch HGNC_symbol:PTTG1 ; + skos:exactMatch UMLS:C0919521, + HGNC:9690, + HGNC_symbol:PTTG1 ; biolink:category biolink:Gene . OMIM:604148 a owl:Class ; @@ -184921,13 +190891,14 @@ OMIM:604148 a owl:Class ; IAO:0000142 PMID:10343111, PMID:11118146, PMID:8967342 ; - oboInOwl:hasDbXref UMLS:C1420097 ; oboInOwl:hasExactSynonym "SLC13A2", "sodium-dependent dicarboxylate transporter 1", "solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9058 ; - skos:exactMatch HGNC_symbol:SLC13A2 ; + skos:exactMatch UMLS:C1420097, + HGNC:10917, + HGNC_symbol:SLC13A2 ; biolink:category biolink:Gene . OMIM:604149 a owl:Class ; @@ -184961,12 +190932,13 @@ OMIM:604149 a owl:Class ; PMID:9750929 ; RO:0002525 CHR:9606chr7q21.3 ; RO:0003303 OMIM:159900 ; - oboInOwl:hasDbXref UMLS:C1420008 ; oboInOwl:hasExactSynonym "SGCE", "sarcoglycan, epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8910 ; - skos:exactMatch HGNC_symbol:SGCE ; + skos:exactMatch UMLS:C1420008, + HGNC:10808, + HGNC_symbol:SGCE ; biolink:category biolink:Gene . OMIM:604150 a owl:Class ; @@ -184974,41 +190946,44 @@ OMIM:604150 a owl:Class ; IAO:0000142 PMID:11747469, PMID:8056345, PMID:8797801 ; - oboInOwl:hasDbXref UMLS:C1418748 ; oboInOwl:hasExactSynonym "POLR2J", "RNA polymerase ii, 13.3-kd subunit", "polymerase ii, rna, subunit j", "rpb11, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5439 ; - skos:exactMatch HGNC_symbol:POLR2J ; + skos:exactMatch UMLS:C1418748, + HGNC:9197, + HGNC_symbol:POLR2J ; biolink:category biolink:Gene . OMIM:604151 a owl:Class ; rdfs:label "UBE2E3" ; IAO:0000142 PMID:10343118, PMID:8576256 ; - oboInOwl:hasDbXref UMLS:C1421278 ; oboInOwl:hasExactSynonym "UBE2E3", "ubcm2", "ubiquitin-conjugating enzyme e2e 3", "ubiquitin-conjugating enzyme ubch9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10477 ; - skos:exactMatch HGNC_symbol:UBE2E3 ; + skos:exactMatch UMLS:C1421278, + HGNC:12479, + HGNC_symbol:UBE2E3 ; biolink:category biolink:Gene . OMIM:604152 a owl:Class ; rdfs:label "OAZ2" ; IAO:0000142 PMID:10352227, PMID:9782076 ; - oboInOwl:hasDbXref UMLS:C1417922 ; oboInOwl:hasExactSynonym "OAZ2", "antizyme 2", "ornithine decarboxylase antizyme 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4947 ; - skos:exactMatch HGNC_symbol:OAZ2 ; + skos:exactMatch UMLS:C1417922, + HGNC:8096, + HGNC_symbol:OAZ2 ; biolink:category biolink:Gene . OMIM:604153 a owl:Class ; @@ -185017,7 +190992,6 @@ OMIM:604153 a owl:Class ; PMID:10899166, PMID:28902842, PMID:9782091 ; - oboInOwl:hasDbXref UMLS:C1538474 ; oboInOwl:hasExactSynonym "NMUR1", "g protein-coupled receptor 66", "growth hormone secretagogue receptor family, member 3", @@ -185025,7 +190999,9 @@ OMIM:604153 a owl:Class ; "nmu1r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10316 ; - skos:exactMatch HGNC_symbol:NMUR1 ; + skos:exactMatch UMLS:C1538474, + HGNC:4518, + HGNC_symbol:NMUR1 ; biolink:category biolink:Gene . OMIM:604155 a owl:Class ; @@ -185034,14 +191010,15 @@ OMIM:604155 a owl:Class ; PMID:11474189, PMID:19528316, PMID:9512664 ; - oboInOwl:hasDbXref UMLS:C1416795 ; oboInOwl:hasExactSynonym "LANCL1", "g protein-coupled receptor 69a", "lanc-like 1", "lanthionine-synthetase component c-like 1 g protein-coupled receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10314 ; - skos:exactMatch HGNC_symbol:LANCL1 ; + skos:exactMatch UMLS:C1416795, + HGNC:6508, + HGNC_symbol:LANCL1 ; biolink:category biolink:Gene . OMIM:604156 a owl:Class ; @@ -185059,14 +191036,15 @@ OMIM:604156 a owl:Class ; PMID:9192640, PMID:9391078, PMID:9916800 ; - oboInOwl:hasDbXref UMLS:C1419986 ; oboInOwl:hasExactSynonym "SFRP1", "frizzled-related protein", "secreted apoptosis-related protein 2", "secreted frizzled-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6422 ; - skos:exactMatch HGNC_symbol:SFRP1 ; + skos:exactMatch UMLS:C1419986, + HGNC:10776, + HGNC_symbol:SFRP1 ; biolink:category biolink:Gene . OMIM:604157 a owl:Class ; @@ -185076,13 +191054,14 @@ OMIM:604157 a owl:Class ; PMID:27042933, PMID:9096311, PMID:9391078 ; - oboInOwl:hasDbXref UMLS:C1419987 ; oboInOwl:hasExactSynonym "SFRP2", "secreted apoptosis-related protein 1", "secreted frizzled-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6423 ; - skos:exactMatch HGNC_symbol:SFRP2 ; + skos:exactMatch UMLS:C1419987, + HGNC:10777, + HGNC_symbol:SFRP2 ; biolink:category biolink:Gene . OMIM:604158 a owl:Class ; @@ -185091,13 +191070,14 @@ OMIM:604158 a owl:Class ; PMID:18981481, PMID:20558665, PMID:9391078 ; - oboInOwl:hasDbXref UMLS:C1419988 ; oboInOwl:hasExactSynonym "SFRP5", "secreted apoptosis-related protein 3", "secreted frizzled-related protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6425 ; - skos:exactMatch HGNC_symbol:SFRP5 ; + skos:exactMatch UMLS:C1419988, + HGNC:10779, + HGNC_symbol:SFRP5 ; biolink:category biolink:Gene . OMIM:604159 a owl:Class ; @@ -185111,13 +191091,14 @@ OMIM:604159 a owl:Class ; PMID:9845349 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:614618 ; - oboInOwl:hasDbXref UMLS:C1420215 ; oboInOwl:hasExactSynonym "SLC6A5", "glycine transporter, iia 2", "solute carrier family 6 (neurotransmitter transporter, glycine), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9152 ; - skos:exactMatch HGNC_symbol:SLC6A5 ; + skos:exactMatch UMLS:C1420215, + HGNC:11051, + HGNC_symbol:SLC6A5 ; biolink:category biolink:Gene . OMIM:604160 a owl:Class ; @@ -185125,12 +191106,13 @@ OMIM:604160 a owl:Class ; IAO:0000142 PMID:17694047, PMID:1918072, PMID:9593935 ; - oboInOwl:hasDbXref UMLS:C1416504 ; oboInOwl:hasExactSynonym "ITGB8", "integrin, beta-8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3696 ; - skos:exactMatch HGNC_symbol:ITGB8 ; + skos:exactMatch UMLS:C1416504, + HGNC:6163, + HGNC_symbol:ITGB8 ; biolink:category biolink:Gene . OMIM:604161 a owl:Class ; @@ -185155,14 +191137,15 @@ OMIM:604161 a owl:Class ; PMID:24982149 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:614837 ; - oboInOwl:hasDbXref UMLS:C1333695 ; oboInOwl:hasExactSynonym "KISS1R", "g protein-coupled receptor 54", "gpr54 metastin receptor", "kiss1 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84634 ; - skos:exactMatch HGNC_symbol:KISS1R ; + skos:exactMatch UMLS:C1333695, + HGNC:4510, + HGNC_symbol:KISS1R ; biolink:category biolink:Gene . OMIM:604162 a owl:Class ; @@ -185176,12 +191159,13 @@ OMIM:604163 a owl:Class ; PMID:16254077, PMID:17386264, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419655 ; oboInOwl:hasExactSynonym "RPL3", "ribosomal protein l3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6122 ; - skos:exactMatch HGNC_symbol:RPL3 ; + skos:exactMatch UMLS:C1419655, + HGNC:10332, + HGNC_symbol:RPL3 ; biolink:category biolink:Gene . OMIM:604164 a owl:Class ; @@ -185195,7 +191179,6 @@ OMIM:604164 a owl:Class ; PMID:8887657, PMID:9231664, PMID:9915796 ; - oboInOwl:hasDbXref UMLS:C1417951 ; oboInOwl:hasExactSynonym "ONECUT1", "hepatocyte nuclear factor 6", "hepatocyte nuclear factor 6-alpha", @@ -185203,7 +191186,9 @@ OMIM:604164 a owl:Class ; "one cut homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3175 ; - skos:exactMatch HGNC_symbol:ONECUT1 ; + skos:exactMatch UMLS:C1417951, + HGNC:8138, + HGNC_symbol:ONECUT1 ; biolink:category biolink:Gene . OMIM:604165 a owl:Class ; @@ -185213,7 +191198,6 @@ OMIM:604165 a owl:Class ; PMID:29431636 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:618464 ; - oboInOwl:hasDbXref UMLS:C1420152 ; oboInOwl:hasExactSynonym "SLC25A11", "oxoglutarate carrier", "oxoglutarate/malate carrier", @@ -185221,7 +191205,9 @@ OMIM:604165 a owl:Class ; "solute carrier family 25 (mitochondrial carrier, oxoglutarate carrier), member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8402 ; - skos:exactMatch HGNC_symbol:SLC25A11 ; + skos:exactMatch UMLS:C1420152, + HGNC:10981, + HGNC_symbol:SLC25A11 ; biolink:category biolink:Gene . OMIM:604166 a owl:Class ; @@ -185235,12 +191221,13 @@ OMIM:604166 a owl:Class ; PMID:8360149, PMID:8441630, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419686 ; oboInOwl:hasExactSynonym "RPL7", "ribosomal protein l7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6129 ; - skos:exactMatch HGNC_symbol:RPL7 ; + skos:exactMatch UMLS:C1419686, + HGNC:10363, + HGNC_symbol:RPL7 ; biolink:category biolink:Gene . OMIM:604167 a owl:Class ; @@ -185289,14 +191276,15 @@ OMIM:604167 a owl:Class ; PMID:9591631 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:615502 ; - oboInOwl:hasDbXref UMLS:C1422163, - UMLS:C3809686 ; oboInOwl:hasExactSynonym "CTCF", "ccctc-binding factor", "transcriptional repressor ctcf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10664 ; - skos:exactMatch HGNC_symbol:CTCF ; + skos:exactMatch UMLS:C1422163, + UMLS:C3809686, + HGNC:13723, + HGNC_symbol:CTCF ; biolink:category biolink:Gene . OMIM:604170 a owl:Class ; @@ -185307,13 +191295,14 @@ OMIM:604170 a owl:Class ; PMID:9218461, PMID:9485382, PMID:9712717 ; - oboInOwl:hasDbXref UMLS:C1418659 ; oboInOwl:hasExactSynonym "PLSCR1", "mm1 cell-derived transplantability-associated gene 1b, mouse, homolog of", "phospholipid scramblase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5359 ; - skos:exactMatch HGNC_symbol:PLSCR1 ; + skos:exactMatch UMLS:C1418659, + HGNC:9092, + HGNC_symbol:PLSCR1 ; biolink:category biolink:Gene . OMIM:604171 a owl:Class ; @@ -185324,7 +191313,6 @@ OMIM:604171 a owl:Class ; PMID:11979277, PMID:15998806, PMID:9119228 ; - oboInOwl:hasDbXref UMLS:C1425988 ; oboInOwl:hasExactSynonym "ALYREF", "aly/ref export factor", "bzip-enhancing factor", @@ -185333,15 +191321,17 @@ OMIM:604171 a owl:Class ; "transcriptional coactivator aly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10189 ; - skos:exactMatch HGNC_symbol:ALYREF ; + skos:exactMatch UMLS:C1425988, + HGNC:19071, + HGNC_symbol:ALYREF ; biolink:category biolink:Gene . OMIM:604172 a owl:Class ; rdfs:label "caronte" ; IAO:0000142 PMID:10499580 ; - oboInOwl:hasDbXref UMLS:C1858724 ; oboInOwl:hasExactSynonym "car", - "caronte" . + "caronte" ; + skos:exactMatch UMLS:C1858724 . OMIM:604174 a owl:Class ; rdfs:label "RPL15" ; @@ -185351,13 +191341,14 @@ OMIM:604174 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr3p24.2 ; RO:0003303 OMIM:615550 ; - oboInOwl:hasDbXref UMLS:C1419632, - UMLS:C3809888 ; oboInOwl:hasExactSynonym "RPL15", "ribosomal protein l15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6138 ; - skos:exactMatch HGNC_symbol:RPL15 ; + skos:exactMatch UMLS:C1419632, + UMLS:C3809888, + HGNC:10306, + HGNC_symbol:RPL15 ; biolink:category biolink:Gene . OMIM:604175 a owl:Class ; @@ -185373,12 +191364,13 @@ OMIM:604175 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:612562 ; - oboInOwl:hasDbXref UMLS:C1419628 ; oboInOwl:hasExactSynonym "RPL11", "ribosomal protein l11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6135 ; - skos:exactMatch HGNC_symbol:RPL11 ; + skos:exactMatch UMLS:C1419628, + HGNC:10301, + HGNC_symbol:RPL11 ; biolink:category biolink:Gene . OMIM:604176 a owl:Class ; @@ -185406,38 +191398,41 @@ OMIM:604176 a owl:Class ; PMID:9202125, PMID:9266833, PMID:9344848 ; - oboInOwl:hasDbXref UMLS:C1426212 ; oboInOwl:hasExactSynonym "SOCS3", "cytokine-inducible sh2 protein 3", "stat-induced stat inhibitor 3", "suppressor of cytokine signaling 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9021 ; - skos:exactMatch HGNC_symbol:SOCS3 ; + skos:exactMatch UMLS:C1426212, + HGNC:19391, + HGNC_symbol:SOCS3 ; biolink:category biolink:Gene . OMIM:604177 a owl:Class ; rdfs:label "RPL8" ; IAO:0000142 PMID:7506540, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1335640 ; oboInOwl:hasExactSynonym "RPL8", "ribosomal protein l8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6132 ; - skos:exactMatch HGNC_symbol:RPL8 ; + skos:exactMatch UMLS:C1335640, + HGNC:10368, + HGNC_symbol:RPL8 ; biolink:category biolink:Gene . OMIM:604178 a owl:Class ; rdfs:label "RPL18A" ; IAO:0000142 PMID:1538749, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419636 ; oboInOwl:hasExactSynonym "RPL18A", "ribosomal protein l18a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6142 ; - skos:exactMatch HGNC_symbol:RPL18A ; + skos:exactMatch UMLS:C1419636, + HGNC:10311, + HGNC_symbol:RPL18A ; biolink:category biolink:Gene . OMIM:604179 a owl:Class ; @@ -185447,12 +191442,13 @@ OMIM:604179 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:618310 ; - oboInOwl:hasDbXref UMLS:C1419635 ; oboInOwl:hasExactSynonym "RPL18", "ribosomal protein l18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6141 ; - skos:exactMatch HGNC_symbol:RPL18 ; + skos:exactMatch UMLS:C1419635, + HGNC:10310, + HGNC_symbol:RPL18 ; biolink:category biolink:Gene . OMIM:604180 a owl:Class ; @@ -185463,12 +191459,13 @@ OMIM:604180 a owl:Class ; PMID:24670665, PMID:8428672, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419649 ; oboInOwl:hasExactSynonym "RPL24", "ribosomal protein l24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6152 ; - skos:exactMatch HGNC_symbol:RPL24 ; + skos:exactMatch UMLS:C1419649, + HGNC:10325, + HGNC_symbol:RPL24 ; biolink:category biolink:Gene . OMIM:604181 a owl:Class ; @@ -185476,12 +191473,13 @@ OMIM:604181 a owl:Class ; IAO:0000142 PMID:7545944, PMID:7588717, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419670 ; oboInOwl:hasExactSynonym "RPL37", "ribosomal protein l37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6167 ; - skos:exactMatch HGNC_symbol:RPL37 ; + skos:exactMatch UMLS:C1419670, + HGNC:10347, + HGNC_symbol:RPL37 ; biolink:category biolink:Gene . OMIM:604182 a owl:Class ; @@ -185490,12 +191488,13 @@ OMIM:604182 a owl:Class ; PMID:25409156, PMID:9375793, PMID:9582194 ; - oboInOwl:hasDbXref UMLS:C1419672 ; oboInOwl:hasExactSynonym "RPL38", "ribosomal protein l38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6169 ; - skos:exactMatch HGNC_symbol:RPL38 ; + skos:exactMatch UMLS:C1419672, + HGNC:10349, + HGNC_symbol:RPL38 ; biolink:category biolink:Gene . OMIM:604183 a owl:Class ; @@ -185503,20 +191502,21 @@ OMIM:604183 a owl:Class ; IAO:0000142 PMID:10440824, PMID:8065759, PMID:9890479 ; - oboInOwl:hasDbXref UMLS:C0395886 ; - oboInOwl:hasExactSynonym "cholesteatoma, congenital" . + oboInOwl:hasExactSynonym "cholesteatoma, congenital" ; + skos:exactMatch UMLS:C0395886 . OMIM:604184 a owl:Class ; rdfs:label "PUNC" ; IAO:0000142 PMID:10708514, PMID:11486040, PMID:9922388 ; - oboInOwl:hasDbXref UMLS:C1419137 ; oboInOwl:hasExactSynonym "PUNC", "putative neuronal cell adhesion molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9543 ; - skos:exactMatch HGNC_symbol:IGDCC3 ; + skos:exactMatch UMLS:C1419137, + HGNC:9700, + HGNC_symbol:IGDCC3 ; biolink:category biolink:Gene . OMIM:604186 a owl:Class ; @@ -185525,14 +191525,15 @@ OMIM:604186 a owl:Class ; PMID:10854217, PMID:11561000, PMID:15843547 ; - oboInOwl:hasDbXref UMLS:C1332818 ; oboInOwl:hasExactSynonym "CXCL14", "brak", "chemokine, cxc motif, ligand 14", "small inducible cytokine subfamily b, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9547 ; - skos:exactMatch HGNC_symbol:CXCL14 ; + skos:exactMatch UMLS:C1332818, + HGNC:10640, + HGNC_symbol:CXCL14 ; biolink:category biolink:Gene . OMIM:604187 a owl:Class ; @@ -185548,11 +191549,11 @@ OMIM:604187 a owl:Class ; PMID:25008398, PMID:25352184, PMID:8649538 ; - oboInOwl:hasDbXref UMLS:C1858712 ; oboInOwl:hasExactSynonym "SPG10", "spastic paraplegia 10 with or without peripheral neuropathy", "spastic paraplegia 10, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1858712 ; biolink:category biolink:Disease . OMIM:604188 a owl:Class ; @@ -185563,28 +191564,30 @@ OMIM:604188 a owl:Class ; PMID:9027582 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:618148 ; - oboInOwl:hasDbXref UMLS:C1419940 ; oboInOwl:hasExactSynonym "SELENBP1", "methanethiol oxidase", "selenium-binding protein 1", "selenium-binding protein, 56-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8991 ; - skos:exactMatch HGNC_symbol:SELENBP1 ; + skos:exactMatch UMLS:C1419940, + HGNC:10719, + HGNC_symbol:SELENBP1 ; biolink:category biolink:Gene . OMIM:604189 a owl:Class ; rdfs:label "DNAJC4" ; IAO:0000142 PMID:9016794, PMID:9473517 ; - oboInOwl:hasDbXref UMLS:C1415792 ; oboInOwl:hasExactSynonym "DNAJC4", "dnaj/hsp40 homolog, subfamily c, member 4", "heat-shock 40-kd protein 2", "mcg18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3338 ; - skos:exactMatch HGNC_symbol:DNAJC4 ; + skos:exactMatch UMLS:C1415792, + HGNC:5271, + HGNC_symbol:DNAJC4 ; biolink:category biolink:Gene . OMIM:604190 a owl:Class ; @@ -185599,25 +191602,27 @@ OMIM:604190 a owl:Class ; PMID:9426230 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:180300 ; - oboInOwl:hasDbXref UMLS:C1420139 ; oboInOwl:hasExactSynonym "SLC22A4", "organic cation transporter 1", "solute carrier family 22 (organic cation transporter), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6583 ; - skos:exactMatch HGNC_symbol:SLC22A4 ; + skos:exactMatch UMLS:C1420139, + HGNC:10968, + HGNC_symbol:SLC22A4 ; biolink:category biolink:Gene . OMIM:604191 a owl:Class ; rdfs:label "ZNF263" ; IAO:0000142 PMID:8586417, PMID:9256059 ; - oboInOwl:hasDbXref UMLS:C1421750 ; oboInOwl:hasExactSynonym "ZNF263", "zinc finger protein 263" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10127 ; - skos:exactMatch HGNC_symbol:ZNF263 ; + skos:exactMatch UMLS:C1421750, + HGNC:13056, + HGNC_symbol:ZNF263 ; biolink:category biolink:Gene . OMIM:604192 a owl:Class ; @@ -185629,14 +191634,15 @@ OMIM:604193 a owl:Class ; IAO:0000142 PMID:17762044, PMID:7954810, PMID:9671728 ; - oboInOwl:hasDbXref UMLS:C1420165 ; oboInOwl:hasExactSynonym "SLC27A3", "acyl-coa synthetase very long chain family, member 3", "fatty acid transport protein 3", "solute carrier family 27 (fatty acid transporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11000 ; - skos:exactMatch HGNC_symbol:SLC27A3 ; + skos:exactMatch UMLS:C1420165, + HGNC:10997, + HGNC_symbol:SLC27A3 ; biolink:category biolink:Gene . OMIM:604194 a owl:Class ; @@ -185650,14 +191656,15 @@ OMIM:604194 a owl:Class ; PMID:9671728 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:608649 ; - oboInOwl:hasDbXref UMLS:C1420166 ; oboInOwl:hasExactSynonym "SLC27A4", "acyl-coa synthetase very long chain family, member 5", "fatty acid transport protein 4", "solute carrier family 27 (fatty acid transporter), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10999 ; - skos:exactMatch HGNC_symbol:SLC27A4 ; + skos:exactMatch UMLS:C1420166, + HGNC:10998, + HGNC_symbol:SLC27A4 ; biolink:category biolink:Gene . OMIM:604195 a owl:Class ; @@ -185671,7 +191678,6 @@ OMIM:604196 a owl:Class ; PMID:17762044, PMID:7954810, PMID:9671728 ; - oboInOwl:hasDbXref UMLS:C1420168 ; oboInOwl:hasExactSynonym "SLC27A6", "acyl-coa synthetase very long chain family, member 2", "bile acyl-coa synthetase", @@ -185681,7 +191687,9 @@ OMIM:604196 a owl:Class ; "vlcs homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28965 ; - skos:exactMatch HGNC_symbol:SLC27A6 ; + skos:exactMatch UMLS:C1420168, + HGNC:11000, + HGNC_symbol:SLC27A6 ; biolink:category biolink:Gene . OMIM:604197 a owl:Class ; @@ -185692,13 +191700,14 @@ OMIM:604197 a owl:Class ; PMID:8522195 ; RO:0002525 CHR:9606chr15q25.1 ; RO:0003303 OMIM:618367 ; - oboInOwl:hasDbXref UMLS:C1417423 ; oboInOwl:hasExactSynonym "5,10-methenyltetrahydrofolate synthetase", "5-formyltetrahydrofolate cycloligase", "MTHFS" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10588 ; - skos:exactMatch HGNC_symbol:MTHFS ; + skos:exactMatch UMLS:C1417423, + HGNC:7437, + HGNC_symbol:MTHFS ; biolink:category biolink:Gene . OMIM:604198 a owl:Class ; @@ -185707,12 +191716,13 @@ OMIM:604198 a owl:Class ; PMID:7811277 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:617807 ; - oboInOwl:hasDbXref UMLS:C1419190 ; oboInOwl:hasExactSynonym "RAB11B", "ras-associated protein rab11b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9230 ; - skos:exactMatch HGNC_symbol:RAB11B ; + skos:exactMatch UMLS:C1419190, + HGNC:9761, + HGNC_symbol:RAB11B ; biolink:category biolink:Gene . OMIM:604199 a owl:Class ; @@ -185721,12 +191731,13 @@ OMIM:604199 a owl:Class ; PMID:22762500, PMID:26338797, PMID:7811277 ; - oboInOwl:hasDbXref UMLS:C1419203 ; oboInOwl:hasExactSynonym "RAB35", "ras-associated protein rab35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11021 ; - skos:exactMatch HGNC_symbol:RAB35 ; + skos:exactMatch UMLS:C1419203, + HGNC:9774, + HGNC_symbol:RAB35 ; biolink:category biolink:Gene . OMIM:604200 a owl:Class ; @@ -185738,14 +191749,15 @@ OMIM:604200 a owl:Class ; PMID:19369701, PMID:26459514, PMID:9731071 ; - oboInOwl:hasDbXref UMLS:C1420060 ; oboInOwl:hasExactSynonym "SIGLEC5", "cd33 antigen-like 2", "ob-binding protein 2", "sialic acid-binding immunoglobulin-like lectin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8778 ; - skos:exactMatch HGNC_symbol:SIGLEC5 ; + skos:exactMatch UMLS:C1420060, + HGNC:10874, + HGNC_symbol:SIGLEC5 ; biolink:category biolink:Gene . OMIM:604202 a owl:Class ; @@ -185757,24 +191769,26 @@ OMIM:604202 a owl:Class ; PMID:9852078 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:609528 ; - oboInOwl:hasDbXref UMLS:C1420271 ; oboInOwl:hasExactSynonym "SNAP29", "synaptosomal-associated protein, 29-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9342 ; - skos:exactMatch HGNC_symbol:SNAP29 ; + skos:exactMatch UMLS:C1420271, + HGNC:11133, + HGNC_symbol:SNAP29 ; biolink:category biolink:Gene . OMIM:604203 a owl:Class ; rdfs:label "STX8" ; IAO:0000142 PMID:10198254, PMID:9852078 ; - oboInOwl:hasDbXref UMLS:C1420505 ; oboInOwl:hasExactSynonym "STX8", "syntaxin 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9482 ; - skos:exactMatch HGNC_symbol:STX8 ; + skos:exactMatch UMLS:C1420505, + HGNC:11443, + HGNC_symbol:STX8 ; biolink:category biolink:Gene . OMIM:604204 a owl:Class ; @@ -185783,12 +191797,13 @@ OMIM:604204 a owl:Class ; PMID:23455425, PMID:27885029, PMID:9852078 ; - oboInOwl:hasDbXref UMLS:C1420497 ; oboInOwl:hasExactSynonym "STX17", "syntaxin 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55014 ; - skos:exactMatch HGNC_symbol:STX17 ; + skos:exactMatch UMLS:C1420497, + HGNC:11432, + HGNC_symbol:STX17 ; biolink:category biolink:Gene . OMIM:604205 a owl:Class ; @@ -185796,26 +191811,28 @@ OMIM:604205 a owl:Class ; IAO:0000142 PMID:11123945, PMID:18212740, PMID:9430674 ; - oboInOwl:hasDbXref UMLS:C1413675 ; oboInOwl:hasExactSynonym "CPNE1", "copine 1", "cpn1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8904 ; - skos:exactMatch HGNC_symbol:CPNE1 ; + skos:exactMatch UMLS:C1413675, + HGNC:2314, + HGNC_symbol:CPNE1 ; biolink:category biolink:Gene . OMIM:604206 a owl:Class ; rdfs:label "CPNE2" ; IAO:0000142 PMID:18212740, PMID:9430674 ; - oboInOwl:hasDbXref UMLS:C1413676 ; oboInOwl:hasExactSynonym "CPNE2", "copine 2", "cpn2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221184 ; - skos:exactMatch HGNC_symbol:CPNE2 ; + skos:exactMatch UMLS:C1413676, + HGNC:2315, + HGNC_symbol:CPNE2 ; biolink:category biolink:Gene . OMIM:604207 a owl:Class ; @@ -185824,13 +191841,14 @@ OMIM:604207 a owl:Class ; PMID:18212740, PMID:9430674, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1413677 ; oboInOwl:hasExactSynonym "CPNE3", "copine 3", "cpn3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8895 ; - skos:exactMatch HGNC_symbol:CPNE3 ; + skos:exactMatch UMLS:C1413677, + HGNC:2316, + HGNC_symbol:CPNE3 ; biolink:category biolink:Gene . OMIM:604208 a owl:Class ; @@ -185838,13 +191856,14 @@ OMIM:604208 a owl:Class ; IAO:0000142 PMID:12670487, PMID:18212740, PMID:9430674 ; - oboInOwl:hasDbXref UMLS:C1413678 ; oboInOwl:hasExactSynonym "CPNE4", "copine 4", "cpn4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131034 ; - skos:exactMatch HGNC_symbol:CPNE4 ; + skos:exactMatch UMLS:C1413678, + HGNC:2317, + HGNC_symbol:CPNE4 ; biolink:category biolink:Gene . OMIM:604209 a owl:Class ; @@ -185852,13 +191871,14 @@ OMIM:604209 a owl:Class ; IAO:0000142 PMID:18212740, PMID:9430674, PMID:9647638 ; - oboInOwl:hasDbXref UMLS:C1413679 ; oboInOwl:hasExactSynonym "CPNE5", "copine 5", "cpn5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57699 ; - skos:exactMatch HGNC_symbol:CPNE5 ; + skos:exactMatch UMLS:C1413679, + HGNC:2318, + HGNC_symbol:CPNE5 ; biolink:category biolink:Gene . OMIM:604210 a owl:Class ; @@ -185887,20 +191907,21 @@ OMIM:604210 a owl:Class ; PMID:8650213 ; RO:0002525 CHR:9606chr1q31.3 ; RO:0003303 OMIM:600105 ; - oboInOwl:hasDbXref UMLS:C1413701 ; oboInOwl:hasExactSynonym "CRB1", "crumbs cell polarity complex component 1", "crumbs, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23418 ; - skos:exactMatch HGNC_symbol:CRB1 ; + skos:exactMatch UMLS:C1413701, + HGNC:2343, + HGNC_symbol:CRB1 ; biolink:category biolink:Gene . OMIM:604211 a owl:Class ; rdfs:label "hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly" ; IAO:0000142 PMID:11336448 ; - oboInOwl:hasDbXref UMLS:C1858696 ; - oboInOwl:hasExactSynonym "hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly" . + oboInOwl:hasExactSynonym "hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly" ; + skos:exactMatch UMLS:C1858696 . OMIM:604212 a owl:Class ; rdfs:label "PARN" ; @@ -185912,14 +191933,15 @@ OMIM:604212 a owl:Class ; PMID:9736620 ; RO:0002525 CHR:9606chr16p13.12 ; RO:0003303 OMIM:616371 ; - oboInOwl:hasDbXref UMLS:C1418272 ; oboInOwl:hasExactSynonym "PARN", "deadenylating nuclease", "poly(a)-specific ribonuclease", "polyadenylate-specific ribonuclease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5073 ; - skos:exactMatch HGNC_symbol:PARN ; + skos:exactMatch UMLS:C1418272, + HGNC:8609, + HGNC_symbol:PARN ; biolink:category biolink:Gene . OMIM:604214 a owl:Class ; @@ -185959,13 +191981,14 @@ OMIM:604214 a owl:Class ; PMID:9285558 ; RO:0002525 CHR:9606chr7q21.2 ; RO:0003303 OMIM:116860 ; - oboInOwl:hasDbXref UMLS:C1537503 ; oboInOwl:hasExactSynonym "KRIT1", "ccm1 gene", "krev interaction trapped 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:889 ; - skos:exactMatch HGNC_symbol:KRIT1 ; + skos:exactMatch UMLS:C1537503, + HGNC:1573, + HGNC_symbol:KRIT1 ; biolink:category biolink:Gene . OMIM:604215 a owl:Class ; @@ -185977,26 +192000,28 @@ OMIM:604215 a owl:Class ; PMID:16488987, PMID:16728974, PMID:16728977 ; - oboInOwl:hasDbXref UMLS:C1416437 ; oboInOwl:hasExactSynonym "ING2", "inhibitor of growth 1-like", "inhibitor of growth 2", "p33ing2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3622 ; - skos:exactMatch HGNC_symbol:ING2 ; + skos:exactMatch UMLS:C1416437, + HGNC:6063, + HGNC_symbol:ING2 ; biolink:category biolink:Gene . OMIM:604216 a owl:Class ; rdfs:label "SLC17A4" ; IAO:0000142 PMID:10319585 ; - oboInOwl:hasDbXref UMLS:C1420112 ; oboInOwl:hasExactSynonym "SLC17A4", "solute carrier family 17 (sodium phosphate cotransporter), member 4", "solute carrier family 17, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10050 ; - skos:exactMatch HGNC_symbol:SLC17A4 ; + skos:exactMatch UMLS:C1420112, + HGNC:10932, + HGNC_symbol:SLC17A4 ; biolink:category biolink:Gene . OMIM:604217 a owl:Class ; @@ -186008,13 +192033,14 @@ OMIM:604217 a owl:Class ; PMID:16960801 ; RO:0002525 CHR:9606chr4p15.2 ; RO:0003303 OMIM:265100 ; - oboInOwl:hasDbXref UMLS:C1420186 ; oboInOwl:hasExactSynonym "SLC34A2", "napi3b", "solute carrier family 34 (sodium/phosphate cotransporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10568 ; - skos:exactMatch HGNC_symbol:SLC34A2 ; + skos:exactMatch UMLS:C1420186, + HGNC:11020, + HGNC_symbol:SLC34A2 ; biolink:category biolink:Gene . OMIM:604220 a owl:Class ; @@ -186022,13 +192048,14 @@ OMIM:604220 a owl:Class ; IAO:0000142 PMID:19145645, PMID:8978670, PMID:9230079 ; - oboInOwl:hasDbXref UMLS:C1412545 ; oboInOwl:hasExactSynonym "ARPC1A", "actin-related protein 2/3 complex, subunit 1a", "sop2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10552 ; - skos:exactMatch HGNC_symbol:ARPC1A ; + skos:exactMatch UMLS:C1412545, + HGNC:703, + HGNC_symbol:ARPC1A ; biolink:category biolink:Gene . OMIM:604221 a owl:Class ; @@ -186047,14 +192074,15 @@ OMIM:604221 a owl:Class ; PMID:9000076, PMID:9230079, PMID:9359840 ; - oboInOwl:hasDbXref UMLS:C1412171 ; oboInOwl:hasExactSynonym "ACTR2", "actin-related protein 2", "arp2", "arp2/3 complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10097 ; - skos:exactMatch HGNC_symbol:ACTR2 ; + skos:exactMatch UMLS:C1412171, + HGNC:169, + HGNC_symbol:ACTR2 ; biolink:category biolink:Gene . OMIM:604222 a owl:Class ; @@ -186065,13 +192093,14 @@ OMIM:604222 a owl:Class ; PMID:9000076, PMID:9230079, PMID:9359840 ; - oboInOwl:hasDbXref UMLS:C1412172 ; oboInOwl:hasExactSynonym "ACTR3", "actin-related protein 3", "arp3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10096 ; - skos:exactMatch HGNC_symbol:ACTR3 ; + skos:exactMatch UMLS:C1412172, + HGNC:170, + HGNC_symbol:ACTR3 ; biolink:category biolink:Gene . OMIM:604223 a owl:Class ; @@ -186090,8 +192119,6 @@ OMIM:604223 a owl:Class ; PMID:9359840 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:617718 ; - oboInOwl:hasDbXref UMLS:C1412546, - UMLS:C4540232 ; oboInOwl:hasExactSynonym "ARPC1B", "actin-related protein 2/3 complex, 41-kd subunit", "actin-related protein 2/3 complex, subunit 1b", @@ -186099,7 +192126,10 @@ OMIM:604223 a owl:Class ; "p41-arc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10095 ; - skos:exactMatch HGNC_symbol:ARPC1B ; + skos:exactMatch UMLS:C1412546, + UMLS:C4540232, + HGNC:704, + HGNC_symbol:ARPC1B ; biolink:category biolink:Gene . OMIM:604224 a owl:Class ; @@ -186109,14 +192139,15 @@ OMIM:604224 a owl:Class ; PMID:8812419, PMID:9230079, PMID:9359840 ; - oboInOwl:hasDbXref UMLS:C1412547 ; oboInOwl:hasExactSynonym "ARPC2", "actin-related protein 2/3 complex, 34-kd subunit", "actin-related protein 2/3 complex, subunit 2", "p34-arc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10109 ; - skos:exactMatch HGNC_symbol:ARPC2 ; + skos:exactMatch UMLS:C1412547, + HGNC:705, + HGNC_symbol:ARPC2 ; biolink:category biolink:Gene . OMIM:604225 a owl:Class ; @@ -186125,14 +192156,15 @@ OMIM:604225 a owl:Class ; PMID:11721045, PMID:9230079, PMID:9359840 ; - oboInOwl:hasDbXref UMLS:C1412548 ; oboInOwl:hasExactSynonym "ARPC3", "actin-related protein 2/3 complex, 21-kd subunit", "actin-related protein 2/3 complex, subunit 3", "p21-arc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10094 ; - skos:exactMatch HGNC_symbol:ARPC3 ; + skos:exactMatch UMLS:C1412548, + HGNC:706, + HGNC_symbol:ARPC3 ; biolink:category biolink:Gene . OMIM:604226 a owl:Class ; @@ -186141,14 +192173,15 @@ OMIM:604226 a owl:Class ; PMID:11721045, PMID:9230079, PMID:9359840 ; - oboInOwl:hasDbXref UMLS:C1412549 ; oboInOwl:hasExactSynonym "ARPC4", "actin-related protein 2/3 complex, 20-kd subunit", "actin-related protein 2/3 complex, subunit 4", "p20-arc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10093 ; - skos:exactMatch HGNC_symbol:ARPC4 ; + skos:exactMatch UMLS:C1412549, + HGNC:707, + HGNC_symbol:ARPC4 ; biolink:category biolink:Gene . OMIM:604227 a owl:Class ; @@ -186156,14 +192189,15 @@ OMIM:604227 a owl:Class ; IAO:0000142 PMID:11721045, PMID:9230079, PMID:9359840 ; - oboInOwl:hasDbXref UMLS:C1412550 ; oboInOwl:hasExactSynonym "ARPC5", "actin-related protein 2/3 complex, 16-kd subunit", "actin-related protein 2/3 complex, subunit 5", "p16-arc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10092 ; - skos:exactMatch HGNC_symbol:ARPC5 ; + skos:exactMatch UMLS:C1412550, + HGNC:708, + HGNC_symbol:ARPC5 ; biolink:category biolink:Gene . OMIM:604228 a owl:Class ; @@ -186178,11 +192212,11 @@ OMIM:604229 a owl:Class ; PMID:1954207, PMID:27839872, PMID:8162071 ; - oboInOwl:hasDbXref UMLS:C4310809, - ORPHA:708 ; oboInOwl:hasExactSynonym "ASGD5", "anterior segment dysgenesis 5" ; rdfs:subClassOf OMIMPS:107250 ; + skos:exactMatch UMLS:C4310809, + ORPHA:708 ; biolink:category biolink:Disease . OMIM:604230 a owl:Class ; @@ -186192,36 +192226,39 @@ OMIM:604230 a owl:Class ; PMID:11331948, PMID:16141067, PMID:9707437 ; - oboInOwl:hasDbXref UMLS:C1412218 ; oboInOwl:hasExactSynonym "ADAT1", "adenosine deaminase, trna-specific, 1", "tad1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23536 ; - skos:exactMatch HGNC_symbol:ADAT1 ; + skos:exactMatch UMLS:C1412218, + HGNC:228, + HGNC_symbol:ADAT1 ; biolink:category biolink:Gene . OMIM:604231 a owl:Class ; rdfs:label "PTTG2" ; IAO:0000142 PMID:10084610 ; - oboInOwl:hasDbXref UMLS:C1419130 ; oboInOwl:hasExactSynonym "PTTG2", "pituitary tumor-transforming gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10744 ; - skos:exactMatch HGNC_symbol:PTTG2 ; + skos:exactMatch UMLS:C1419130, + HGNC:9691, + HGNC_symbol:PTTG2 ; biolink:category biolink:Gene . OMIM:604234 a owl:Class ; rdfs:label "ITGBL1" ; IAO:0000142 PMID:10051402 ; - oboInOwl:hasDbXref UMLS:C1416505 ; oboInOwl:hasExactSynonym "ITGBL1", "integrin, beta-like 1", "ten beta-integrin egf-like repeat domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9358 ; - skos:exactMatch HGNC_symbol:ITGBL1 ; + skos:exactMatch UMLS:C1416505, + HGNC:6164, + HGNC_symbol:ITGBL1 ; biolink:category biolink:Gene . OMIM:604235 a owl:Class ; @@ -186230,13 +192267,14 @@ OMIM:604235 a owl:Class ; PMID:10391915, PMID:19641107, PMID:9784132 ; - oboInOwl:hasDbXref UMLS:C1420227 ; oboInOwl:hasExactSynonym "SLC7A8", "l-type amino acid transporter 2", "solute carrier family 7 (cationic amino acid transporter, y+ system), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23428 ; - skos:exactMatch HGNC_symbol:SLC7A8 ; + skos:exactMatch UMLS:C1420227, + HGNC:11066, + HGNC_symbol:SLC7A8 ; biolink:category biolink:Gene . OMIM:604236 a owl:Class ; @@ -186261,14 +192299,15 @@ OMIM:604237 a owl:Class ; PMID:9686600 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:272430 ; - oboInOwl:hasDbXref UMLS:C1413713 ; oboInOwl:hasExactSynonym "CRLF1", "clf1", "cytokine receptor-like factor 1", "nr6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9244 ; - skos:exactMatch HGNC_symbol:CRLF1 ; + skos:exactMatch UMLS:C1413713, + HGNC:2364, + HGNC_symbol:CRLF1 ; biolink:category biolink:Gene . OMIM:604238 a owl:Class ; @@ -186289,25 +192328,27 @@ OMIM:604238 a owl:Class ; PMID:28880281, PMID:29618518, PMID:9671584 ; - oboInOwl:hasDbXref UMLS:C1420267 ; oboInOwl:hasExactSynonym "SNAI1", "snail family transcriptional repressor 1", "snail, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6615 ; - skos:exactMatch HGNC_symbol:SNAI1 ; + skos:exactMatch UMLS:C1420267, + HGNC:11128, + HGNC_symbol:SNAI1 ; biolink:category biolink:Gene . OMIM:604239 a owl:Class ; rdfs:label "PSPHL" ; IAO:0000142 PMID:9573387 ; - oboInOwl:hasDbXref UMLS:C1419049 ; oboInOwl:hasExactSynonym "PSPHL", "co9", "phosphoserine phosphatase-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8781 ; - skos:exactMatch HGNC_symbol:PSPHP1 ; + skos:exactMatch UMLS:C1419049, + HGNC:9578, + HGNC_symbol:PSPHP1 ; biolink:category biolink:Gene . OMIM:604240 a owl:Class ; @@ -186317,7 +192358,6 @@ OMIM:604240 a owl:Class ; PMID:8099440, PMID:9176491, PMID:9259577 ; - oboInOwl:hasDbXref UMLS:C1415651 ; oboInOwl:hasExactSynonym "TLX2", "enx", "homeobox 11-like 1", @@ -186326,7 +192366,9 @@ OMIM:604240 a owl:Class ; "tlx2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3196 ; - skos:exactMatch HGNC_symbol:TLX2 ; + skos:exactMatch UMLS:C1415651, + HGNC:5057, + HGNC_symbol:TLX2 ; biolink:category biolink:Gene . OMIM:604241 a owl:Class ; @@ -186339,13 +192381,14 @@ OMIM:604241 a owl:Class ; PMID:9741631 ; RO:0002525 CHR:9606chr6p12.3 ; RO:0003303 OMIM:607832 ; - oboInOwl:hasDbXref UMLS:C1422519 ; oboInOwl:hasExactSynonym "CD2AP", "cas ligand with multiple sh3 domains", "cd2-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23607 ; - skos:exactMatch HGNC_symbol:CD2AP ; + skos:exactMatch UMLS:C1422519, + HGNC:14258, + HGNC_symbol:CD2AP ; biolink:category biolink:Gene . OMIM:604242 a owl:Class ; @@ -186356,12 +192399,13 @@ OMIM:604242 a owl:Class ; PMID:9414289 ; RO:0002525 CHR:9606chr13q12.13 ; RO:0003303 OMIM:133239 ; - oboInOwl:hasDbXref UMLS:C1419427 ; oboInOwl:hasExactSynonym "RNF6", "ring finger protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6049 ; - skos:exactMatch HGNC_symbol:RNF6 ; + skos:exactMatch UMLS:C1419427, + HGNC:10069, + HGNC_symbol:RNF6 ; biolink:category biolink:Gene . OMIM:604243 a owl:Class ; @@ -186393,13 +192437,14 @@ OMIM:604249 a owl:Class ; IAO:0000142 PMID:10331947, PMID:15286784, PMID:28495747 ; - oboInOwl:hasDbXref UMLS:C1419770 ; oboInOwl:hasExactSynonym "RTN3", "neuroendocrine-specific protein-like 2", "reticulon 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10313 ; - skos:exactMatch HGNC_symbol:RTN3 ; + skos:exactMatch UMLS:C1419770, + HGNC:10469, + HGNC_symbol:RTN3 ; biolink:category biolink:Gene . OMIM:604251 a owl:Class ; @@ -186410,13 +192455,14 @@ OMIM:604251 a owl:Class ; PMID:16287142, PMID:9205841, PMID:9655484 ; - oboInOwl:hasDbXref UMLS:C1858663 ; oboInOwl:hasExactSynonym "cabin1", "cain", "calcineurin-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23523 ; - skos:exactMatch HGNC_symbol:CABIN1 ; + skos:exactMatch UMLS:C1858663, + HGNC:24187, + HGNC_symbol:CABIN1 ; biolink:category biolink:Gene . OMIM:604252 a owl:Class ; @@ -186456,7 +192502,6 @@ OMIM:604252 a owl:Class ; PMID:24352696, PMID:26322584, PMID:29739836 ; - oboInOwl:hasDbXref UMLS:C1412727 ; oboInOwl:hasExactSynonym "BACE1", "beta-site amyloid beta a4 precursor protein-cleaving enzyme 1", "beta-site app-cleaving enzyme", @@ -186464,18 +192509,21 @@ OMIM:604252 a owl:Class ; "secretase, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23621 ; - skos:exactMatch HGNC_symbol:BACE1 ; + skos:exactMatch UMLS:C1412727, + HGNC:933, + HGNC_symbol:BACE1 ; biolink:category biolink:Gene . OMIM:604253 a owl:Class ; rdfs:label "CSNK1G3" ; IAO:0000142 PMID:9925945 ; - oboInOwl:hasDbXref UMLS:C1413759 ; oboInOwl:hasExactSynonym "CSNK1G3", "casein kinase i, gamma-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1456 ; - skos:exactMatch HGNC_symbol:CSNK1G3 ; + skos:exactMatch UMLS:C1413759, + HGNC:2456, + HGNC_symbol:CSNK1G3 ; biolink:category biolink:Gene . OMIM:604255 a owl:Class ; @@ -186490,7 +192538,6 @@ OMIM:604255 a owl:Class ; PMID:9622616 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:619483 ; - oboInOwl:hasDbXref UMLS:C1825796 ; oboInOwl:hasExactSynonym "LBX1", "ladybird homeobox 1", "ladybird late, drosophila, homolog of, 1", @@ -186498,7 +192545,9 @@ OMIM:604255 a owl:Class ; "lbx1h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10660 ; - skos:exactMatch HGNC_symbol:LBX1 ; + skos:exactMatch UMLS:C1825796, + HGNC:16960, + HGNC_symbol:LBX1 ; biolink:category biolink:Gene . OMIM:604256 a owl:Class ; @@ -186523,7 +192572,6 @@ OMIM:604256 a owl:Class ; PMID:9240428, PMID:9284045, PMID:9361282 ; - oboInOwl:hasDbXref UMLS:C1412793 ; oboInOwl:hasExactSynonym "BHLHE40", "basic helix-loop-helix domain-containing protein, class b, 2", "basic helix-loop-helix family, member e40", @@ -186532,7 +192580,9 @@ OMIM:604256 a owl:Class ; "stra13, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8553 ; - skos:exactMatch HGNC_symbol:BHLHE40 ; + skos:exactMatch UMLS:C1412793, + HGNC:1046, + HGNC_symbol:BHLHE40 ; biolink:category biolink:Gene . OMIM:604257 a owl:Class ; @@ -186540,8 +192590,8 @@ OMIM:604257 a owl:Class ; IAO:0000142 PMID:10482867, PMID:11754073, PMID:8279478 ; - oboInOwl:hasDbXref UMLS:C1858661 ; - oboInOwl:hasExactSynonym "camera-marugo-cohen syndrome" . + oboInOwl:hasExactSynonym "camera-marugo-cohen syndrome" ; + skos:exactMatch UMLS:C1858661 . OMIM:604258 a owl:Class ; rdfs:label "DLC1" ; @@ -186552,28 +192602,30 @@ OMIM:604258 a owl:Class ; PMID:9605766 ; RO:0002525 CHR:9606chr8p22 ; RO:0003303 OMIM:114500 ; - oboInOwl:hasDbXref UMLS:C1366509, - UMLS:C1833970 ; oboInOwl:hasExactSynonym "DLC1", "deleted 1n liver cancer 1", "dlc1 rho gtpase activating protein", "rho gtpase-activating protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10395 ; - skos:exactMatch HGNC_symbol:DLC1 ; + skos:exactMatch UMLS:C1366509, + UMLS:C1833970, + HGNC:2897, + HGNC_symbol:DLC1 ; biolink:category biolink:Gene . OMIM:604259 a owl:Class ; rdfs:label "PLXNC1" ; IAO:0000142 PMID:10520995, PMID:9586637 ; - oboInOwl:hasDbXref UMLS:C1418667 ; oboInOwl:hasExactSynonym "PLXNC1", "plexin c1", "virus-encoded semaphorin protein receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10154 ; - skos:exactMatch HGNC_symbol:PLXNC1 ; + skos:exactMatch UMLS:C1418667, + HGNC:9106, + HGNC_symbol:PLXNC1 ; biolink:category biolink:Gene . OMIM:604260 a owl:Class ; @@ -186605,15 +192657,16 @@ OMIM:604260 a owl:Class ; PMID:9852045 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:102578 ; - oboInOwl:hasDbXref UMLS:C1335876, - UMLS:C5435698, - UMLS:C5436546 ; oboInOwl:hasExactSynonym "STAT5B", "signal transducer and activator of transcription 5b", "stat5b/rara fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6777 ; - skos:exactMatch HGNC_symbol:STAT5B ; + skos:exactMatch UMLS:C1335876, + UMLS:C5435698, + UMLS:C5436546, + HGNC:11367, + HGNC_symbol:STAT5B ; biolink:category biolink:Gene . OMIM:604261 a owl:Class ; @@ -186641,7 +192694,6 @@ OMIM:604261 a owl:Class ; PMID:9852036 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:617584 ; - oboInOwl:hasDbXref UMLS:C1825497 ; oboInOwl:hasExactSynonym "ATG5", "apg5, s. cerevisiae, homolog of", "apg5-like", @@ -186650,13 +192702,14 @@ OMIM:604261 a owl:Class ; "autophagy-related 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9474 ; - skos:exactMatch HGNC_symbol:ATG5 ; + skos:exactMatch UMLS:C1825497, + HGNC:589, + HGNC_symbol:ATG5 ; biolink:category biolink:Gene . OMIM:604262 a owl:Class ; rdfs:label "APBA3" ; IAO:0000142 PMID:10049767 ; - oboInOwl:hasDbXref UMLS:C1412458 ; oboInOwl:hasExactSynonym "APBA3", "amyloid beta a4 precursor protein-binding, family a, member 3", "mint3, rat, homolog of", @@ -186664,7 +192717,9 @@ OMIM:604262 a owl:Class ; "x11-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9546 ; - skos:exactMatch HGNC_symbol:APBA3 ; + skos:exactMatch UMLS:C1412458, + HGNC:580, + HGNC_symbol:APBA3 ; biolink:category biolink:Gene . OMIM:604263 a owl:Class ; @@ -186680,7 +192735,6 @@ OMIM:604263 a owl:Class ; PMID:14970845, PMID:15007175, PMID:15933804 ; - oboInOwl:hasDbXref UMLS:C1423700 ; oboInOwl:hasExactSynonym "PRND", "doppel", "downstream, prion-like", @@ -186688,7 +192742,9 @@ OMIM:604263 a owl:Class ; "prion-like protein doppel" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23627 ; - skos:exactMatch HGNC_symbol:PRND ; + skos:exactMatch UMLS:C1423700, + HGNC:15748, + HGNC_symbol:PRND ; biolink:category biolink:Gene . OMIM:604264 a owl:Class ; @@ -186700,7 +192756,6 @@ OMIM:604264 a owl:Class ; PMID:23339110, PMID:24358150, PMID:9693030 ; - oboInOwl:hasDbXref UMLS:C1414308 ; oboInOwl:hasExactSynonym "CELSR3", "cadherin egf lag seven-pass g-type receptor 3", "epidermal growth factor-like 1", @@ -186708,7 +192763,9 @@ OMIM:604264 a owl:Class ; "multiple epidermal growth factor-like domains 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1951 ; - skos:exactMatch HGNC_symbol:CELSR3 ; + skos:exactMatch UMLS:C1414308, + HGNC:3230, + HGNC_symbol:CELSR3 ; biolink:category biolink:Gene . OMIM:604265 a owl:Class ; @@ -186716,26 +192773,28 @@ OMIM:604265 a owl:Class ; IAO:0000142 PMID:15296717, PMID:9039502, PMID:9693030 ; - oboInOwl:hasDbXref UMLS:C1414309 ; oboInOwl:hasExactSynonym "CELSR2", "cadherin egf lag seven-pass g-type receptor 2", "epidermal growth factor-like 2", "multiple epidermal growth factor-like domains 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1952 ; - skos:exactMatch HGNC_symbol:CELSR2 ; + skos:exactMatch UMLS:C1414309, + HGNC:3231, + HGNC_symbol:CELSR2 ; biolink:category biolink:Gene . OMIM:604266 a owl:Class ; rdfs:label "MEGF6" ; IAO:0000142 PMID:9693030 ; - oboInOwl:hasDbXref UMLS:C1825961 ; oboInOwl:hasExactSynonym "MEGF6", "epidermal growth factor-like 3, formerly", "multiple epidermal growth factor-like domains 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1953 ; - skos:exactMatch HGNC_symbol:MEGF6 ; + skos:exactMatch UMLS:C1825961, + HGNC:3232, + HGNC_symbol:MEGF6 ; biolink:category biolink:Gene . OMIM:604267 a owl:Class ; @@ -186745,25 +192804,27 @@ OMIM:604267 a owl:Class ; PMID:9693030 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:614976 ; - oboInOwl:hasDbXref UMLS:C1825962 ; oboInOwl:hasExactSynonym "MEGF8", "epidermal growth factor-like 4, formerly", "multiple epidermal growth factor-like domains 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1954 ; - skos:exactMatch HGNC_symbol:MEGF8 ; + skos:exactMatch UMLS:C1825962, + HGNC:3233, + HGNC_symbol:MEGF8 ; biolink:category biolink:Gene . OMIM:604268 a owl:Class ; rdfs:label "MEGF9" ; IAO:0000142 PMID:9693030 ; - oboInOwl:hasDbXref UMLS:C1825963 ; oboInOwl:hasExactSynonym "MEGF9", "epidermal growth factor-like 5, formerly", "multiple epidermal growth factor-like domains 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1955 ; - skos:exactMatch HGNC_symbol:MEGF9 ; + skos:exactMatch UMLS:C1825963, + HGNC:3234, + HGNC_symbol:MEGF9 ; biolink:category biolink:Gene . OMIM:604269 a owl:Class ; @@ -186774,14 +192835,15 @@ OMIM:604269 a owl:Class ; PMID:9693030 ; RO:0002525 CHR:9606chr5q33.1 ; RO:0003303 OMIM:617769 ; - oboInOwl:hasDbXref UMLS:C1414535 ; oboInOwl:hasExactSynonym "FAT2", "fat atypical cadherin 2", "fat tumor suppressor, drosophila, homolog of, 2", "multiple epidermal growth factor-like domains 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2196 ; - skos:exactMatch HGNC_symbol:FAT2 ; + skos:exactMatch UMLS:C1414535, + HGNC:3596, + HGNC_symbol:FAT2 ; biolink:category biolink:Gene . OMIM:604270 a owl:Class ; @@ -186808,13 +192870,14 @@ OMIM:604270 a owl:Class ; PMID:9693030 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:614305 ; - oboInOwl:hasDbXref UMLS:C1416916 ; oboInOwl:hasExactSynonym "LRP4", "low density lipoprotein receptor-related protein 4", "multiple epidermal growth factor-like domains 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4038 ; - skos:exactMatch HGNC_symbol:LRP4 ; + skos:exactMatch UMLS:C1416916, + HGNC:6696, + HGNC_symbol:LRP4 ; biolink:category biolink:Gene . OMIM:604271 a owl:Class ; @@ -186827,11 +192890,11 @@ OMIM:604271 a owl:Class ; PMID:7565946, PMID:9140387, PMID:9814495 ; - oboInOwl:hasDbXref UMLS:C1858656, - UMLS:C3888131 ; oboInOwl:hasExactSynonym "GHIP", "growth hormone insensitivity, partial", "increased responsiveness to growth hormone" ; + skos:exactMatch UMLS:C1858656, + UMLS:C3888131 ; biolink:category biolink:Disease . OMIM:604272 a owl:Class ; @@ -186854,16 +192917,17 @@ OMIM:604272 a owl:Class ; PMID:8702795 ; RO:0002525 CHR:9606chr22q13.33 ; RO:0003303 OMIM:608908 ; - oboInOwl:hasDbXref UMLS:C1419873, - UMLS:C1837148, - UMLS:C5399977 ; oboInOwl:hasExactSynonym "SCO2", "sco cytochrome c oxidase assembly protein 2", "sco2 cytochrome c oxidase assembly protein", "sco2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9997 ; - skos:exactMatch HGNC_symbol:SCO2 ; + skos:exactMatch UMLS:C1419873, + UMLS:C1837148, + UMLS:C5399977, + HGNC:10604, + HGNC_symbol:SCO2 ; biolink:category biolink:Gene . OMIM:604274 a owl:Class ; @@ -186875,7 +192939,6 @@ OMIM:604274 a owl:Class ; PMID:9177771, PMID:9645365, PMID:9683662 ; - oboInOwl:hasDbXref UMLS:C1334309 ; oboInOwl:hasExactSynonym "KLRA1P", "killer cell lectin-like receptor a1, pseudogene", "killer cell lectin-like receptor, subfamily a, member 1", @@ -186884,7 +192947,9 @@ OMIM:604274 a owl:Class ; "ly49l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10748 ; - skos:exactMatch HGNC_symbol:KLRA1P ; + skos:exactMatch UMLS:C1334309, + HGNC:6372, + HGNC_symbol:KLRA1P ; biolink:category biolink:Gene . OMIM:604275 a owl:Class ; @@ -186895,27 +192960,29 @@ OMIM:604275 a owl:Class ; PMID:9223106, PMID:9342840, PMID:9721216 ; - oboInOwl:hasDbXref UMLS:C1413801 ; oboInOwl:hasExactSynonym "CTNND2", "catenin, delta", "catenin, delta-2", "neural plakophilin-related armadillo-repeat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1501 ; - skos:exactMatch HGNC_symbol:CTNND2 ; + skos:exactMatch UMLS:C1413801, + HGNC:2516, + HGNC_symbol:CTNND2 ; biolink:category biolink:Gene . OMIM:604276 a owl:Class ; rdfs:label "PKP4" ; IAO:0000142 PMID:8937994, PMID:9721216 ; - oboInOwl:hasDbXref UMLS:C1418615 ; oboInOwl:hasExactSynonym "PKP4", "p0071", "plakophilin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8502 ; - skos:exactMatch HGNC_symbol:PKP4 ; + skos:exactMatch UMLS:C1418615, + HGNC:9026, + HGNC_symbol:PKP4 ; biolink:category biolink:Gene . OMIM:604277 a owl:Class ; @@ -186970,26 +193037,28 @@ OMIM:604277 a owl:Class ; PMID:9736780 ; RO:0002525 CHR:9606chr2p22.3 ; RO:0003303 OMIM:182601 ; - oboInOwl:hasDbXref UMLS:C1539809 ; oboInOwl:hasExactSynonym "SPAST", "spastin", "spg4 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6683 ; - skos:exactMatch HGNC_symbol:SPAST ; + skos:exactMatch UMLS:C1539809, + HGNC:11233, + HGNC_symbol:SPAST ; biolink:category biolink:Gene . OMIM:604279 a owl:Class ; rdfs:label "JMY" ; IAO:0000142 PMID:10518217, PMID:21625218 ; - oboInOwl:hasDbXref UMLS:C1858625 ; oboInOwl:hasExactSynonym "JMY", "jmy", "junction-mediating and regulatory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133746 ; - skos:exactMatch HGNC_symbol:JMY ; + skos:exactMatch UMLS:C1858625, + HGNC:28916, + HGNC_symbol:JMY ; biolink:category biolink:Gene . OMIM:604280 a owl:Class ; @@ -187000,12 +193069,13 @@ OMIM:604280 a owl:Class ; PMID:20484647, PMID:21270798, PMID:25668492 ; - oboInOwl:hasDbXref UMLS:C1826602 ; oboInOwl:hasExactSynonym "PLXNA4", "plexin a4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91584 ; - skos:exactMatch HGNC_symbol:PLXNA4 ; + skos:exactMatch UMLS:C1826602, + HGNC:9102, + HGNC_symbol:PLXNA4 ; biolink:category biolink:Gene . OMIM:604281 a owl:Class ; @@ -187016,7 +193086,6 @@ OMIM:604281 a owl:Class ; PMID:20054399, PMID:20835227, PMID:20865002 ; - oboInOwl:hasDbXref UMLS:C1332118 ; oboInOwl:hasExactSynonym "DBF4", "activator of s-phase kinase", "dbf4 zinc finger", @@ -187025,7 +193094,9 @@ OMIM:604281 a owl:Class ; "dumbbell former 4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10926 ; - skos:exactMatch HGNC_symbol:DBF4 ; + skos:exactMatch UMLS:C1332118, + HGNC:17364, + HGNC_symbol:DBF4 ; biolink:category biolink:Gene . OMIM:604282 a owl:Class ; @@ -187038,12 +193109,13 @@ OMIM:604282 a owl:Class ; PMID:25985275, PMID:26068067, PMID:32025034 ; - oboInOwl:hasDbXref UMLS:C1418668 ; oboInOwl:hasExactSynonym "PLXND1", "plexin d1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23129 ; - skos:exactMatch HGNC_symbol:PLXND1 ; + skos:exactMatch UMLS:C1418668, + HGNC:9107, + HGNC_symbol:PLXND1 ; biolink:category biolink:Gene . OMIM:604283 a owl:Class ; @@ -187059,7 +193131,6 @@ OMIM:604283 a owl:Class ; PMID:9920774 ; RO:0002525 CHR:9606chr1q31.1 ; RO:0003303 OMIM:208250 ; - oboInOwl:hasDbXref UMLS:C1418891 ; oboInOwl:hasExactSynonym "PRG4", "cacp gene", "hemangiopoietin", @@ -187069,7 +193140,9 @@ OMIM:604283 a owl:Class ; "superficial zone protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10216 ; - skos:exactMatch HGNC_symbol:PRG4 ; + skos:exactMatch UMLS:C1418891, + HGNC:9364, + HGNC_symbol:PRG4 ; biolink:category biolink:Gene . OMIM:604284 a owl:Class ; @@ -187106,7 +193179,6 @@ OMIM:604285 a owl:Class ; PMID:9192270 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:259900 ; - oboInOwl:hasDbXref UMLS:C1412290 ; oboInOwl:hasExactSynonym "AGXT", "agt", "agxt1", @@ -187114,7 +193186,9 @@ OMIM:604285 a owl:Class ; "serine-pyruvate aminotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:189 ; - skos:exactMatch HGNC_symbol:AGXT ; + skos:exactMatch UMLS:C1412290, + HGNC:341, + HGNC_symbol:AGXT ; biolink:category biolink:Gene . OMIM:604287 a owl:Class ; @@ -187124,9 +193198,9 @@ OMIM:604287 a owl:Class ; PMID:3361958, PMID:6843355, PMID:865533 ; - oboInOwl:hasDbXref UMLS:C1858592 ; oboInOwl:hasExactSynonym "carney triad", - "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" . + "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" ; + skos:exactMatch UMLS:C1858592 . OMIM:604289 a owl:Class ; rdfs:label "RAD54B" ; @@ -187137,13 +193211,14 @@ OMIM:604289 a owl:Class ; PMID:15175261 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:605027 ; - oboInOwl:hasDbXref UMLS:C1424839 ; oboInOwl:hasExactSynonym "RAD54B", "rad54 homolog B", "rad54, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25788 ; - skos:exactMatch HGNC_symbol:RAD54B ; + skos:exactMatch UMLS:C1424839, + HGNC:17228, + HGNC_symbol:RAD54B ; biolink:category biolink:Gene . OMIM:604291 a owl:Class ; @@ -187153,9 +193228,9 @@ OMIM:604291 a owl:Class ; PMID:19179285, PMID:3188157, PMID:4826619 ; - oboInOwl:hasDbXref UMLS:C1858580 ; oboInOwl:hasExactSynonym "ascariasis, susceptibility to", - "ascaris lumbricoides infection, susceptibility to" . + "ascaris lumbricoides infection, susceptibility to" ; + skos:exactMatch UMLS:C1858580 . OMIM:604293 a owl:Class ; rdfs:label "PLXNB2" ; @@ -187163,13 +193238,14 @@ OMIM:604293 a owl:Class ; PMID:12183458, PMID:7889532, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1418665 ; oboInOwl:hasExactSynonym "PLXNB2", "mm1", "plexin b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23654 ; - skos:exactMatch HGNC_symbol:PLXNB2 ; + skos:exactMatch UMLS:C1418665, + HGNC:9104, + HGNC_symbol:PLXNB2 ; biolink:category biolink:Gene . OMIM:604294 a owl:Class ; @@ -187182,12 +193258,13 @@ OMIM:604294 a owl:Class ; PMID:9636075 ; RO:0002525 CHR:9606chr10q25.3 ; RO:0003303 OMIM:614402 ; - oboInOwl:hasDbXref UMLS:C1421432 ; oboInOwl:hasExactSynonym "VAX1", "ventral anterior homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11023 ; - skos:exactMatch HGNC_symbol:VAX1 ; + skos:exactMatch UMLS:C1421432, + HGNC:12660, + HGNC_symbol:VAX1 ; biolink:category biolink:Gene . OMIM:604295 a owl:Class ; @@ -187197,12 +193274,13 @@ OMIM:604295 a owl:Class ; PMID:17043310, PMID:8640222, PMID:9300667 ; - oboInOwl:hasDbXref UMLS:C1421433 ; oboInOwl:hasExactSynonym "VAX2", "ventral anterior homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25806 ; - skos:exactMatch HGNC_symbol:VAX2 ; + skos:exactMatch UMLS:C1421433, + HGNC:12661, + HGNC_symbol:VAX2 ; biolink:category biolink:Gene . OMIM:604296 a owl:Class ; @@ -187214,13 +193292,14 @@ OMIM:604296 a owl:Class ; PMID:24116921 ; RO:0002525 CHR:9606chr9p13.2 ; RO:0003303 OMIM:260000 ; - oboInOwl:hasDbXref UMLS:C1415286 ; oboInOwl:hasExactSynonym "GRHPR", "glxr", "glyoxylate reductase/hydroxypyruvate reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9380 ; - skos:exactMatch HGNC_symbol:GRHPR ; + skos:exactMatch UMLS:C1415286, + HGNC:4570, + HGNC_symbol:GRHPR ; biolink:category biolink:Gene . OMIM:604297 a owl:Class ; @@ -187239,26 +193318,28 @@ OMIM:604297 a owl:Class ; PMID:9428629 ; RO:0002525 CHR:9606chr21q22.11 ; RO:0003303 OMIM:615530 ; - oboInOwl:hasDbXref UMLS:C1420552, - UMLS:C3809824, - UMLS:C4479313 ; oboInOwl:hasExactSynonym "SYNJ1", "synaptojanin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8867 ; - skos:exactMatch HGNC_symbol:SYNJ1 ; + skos:exactMatch UMLS:C1420552, + UMLS:C3809824, + UMLS:C4479313, + HGNC:11503, + HGNC_symbol:SYNJ1 ; biolink:category biolink:Gene . OMIM:604298 a owl:Class ; rdfs:label "STAP1" ; IAO:0000142 PMID:10518561 ; - oboInOwl:hasDbXref UMLS:C1332447 ; oboInOwl:hasExactSynonym "STAP1", "bcr downstream signaling 1", "signal transducing adaptor family member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26228 ; - skos:exactMatch HGNC_symbol:STAP1 ; + skos:exactMatch UMLS:C1332447, + HGNC:24133, + HGNC_symbol:STAP1 ; biolink:category biolink:Gene . OMIM:604299 a owl:Class ; @@ -187269,7 +193350,6 @@ OMIM:604299 a owl:Class ; PMID:26073777 ; RO:0002525 CHR:9606chr3p14.3 ; RO:0003303 OMIM:616511 ; - oboInOwl:hasDbXref UMLS:C1858559 ; oboInOwl:hasExactSynonym "APPL1", "adaptor protein containing ph domain, ptb domain, and leucine zipper motif 1", "adaptor protein, phosphotyrosine interaction, ph domain, and leucine zipper-containing protein 1", @@ -187278,13 +193358,14 @@ OMIM:604299 a owl:Class ; "dip13-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26060 ; - skos:exactMatch HGNC_symbol:APPL1 ; + skos:exactMatch UMLS:C1858559, + HGNC:24035, + HGNC_symbol:APPL1 ; biolink:category biolink:Gene . OMIM:604300 a owl:Class ; rdfs:label "HACL1" ; IAO:0000142 PMID:10468558 ; - oboInOwl:hasDbXref UMLS:C1825446 ; oboInOwl:hasExactSynonym "2-hpcl", "2-hydroxyacyl-coa lyase 1", "2-hydroxyphytanoyl-coa lyase", @@ -187292,37 +193373,41 @@ OMIM:604300 a owl:Class ; "hpcl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26061 ; - skos:exactMatch HGNC_symbol:HACL1 ; + skos:exactMatch UMLS:C1825446, + HGNC:17856, + HGNC_symbol:HACL1 ; biolink:category biolink:Gene . OMIM:604301 a owl:Class ; rdfs:label "oculomedin" ; IAO:0000142 PMID:10362512 ; - oboInOwl:hasDbXref UMLS:C1417927 ; oboInOwl:hasExactSynonym "OCLM", "oculomedin", - "trabecular meshwork-inducible stretch response" . + "trabecular meshwork-inducible stretch response" ; + skos:exactMatch UMLS:C1417927 . OMIM:604303 a owl:Class ; rdfs:label "ACTL7A" ; IAO:0000142 PMID:10373328 ; - oboInOwl:hasDbXref UMLS:C1412163 ; oboInOwl:hasExactSynonym "ACTL7A", "actin-like 7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10881 ; - skos:exactMatch HGNC_symbol:ACTL7A ; + skos:exactMatch UMLS:C1412163, + HGNC:161, + HGNC_symbol:ACTL7A ; biolink:category biolink:Gene . OMIM:604304 a owl:Class ; rdfs:label "ACTL7B" ; IAO:0000142 PMID:10373328 ; - oboInOwl:hasDbXref UMLS:C1412164 ; oboInOwl:hasExactSynonym "ACTL7B", "actin-like 7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10880 ; - skos:exactMatch HGNC_symbol:ACTL7B ; + skos:exactMatch UMLS:C1412164, + HGNC:162, + HGNC_symbol:ACTL7B ; biolink:category biolink:Gene . OMIM:604305 a owl:Class ; @@ -187353,26 +193438,28 @@ OMIM:604305 a owl:Class ; PMID:9456467 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:126200 ; - oboInOwl:hasDbXref UMLS:C1415572 ; oboInOwl:hasExactSynonym "HLA-DQB1", "major histocompatibility complex, class ii, dq beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3119 ; - skos:exactMatch HGNC_symbol:HLA-DQB1 ; + skos:exactMatch UMLS:C1415572, + HGNC:4944, + HGNC_symbol:HLA-DQB1 ; biolink:category biolink:Gene . OMIM:604306 a owl:Class ; rdfs:label "FAIM2" ; IAO:0000142 PMID:10535980, PMID:9698393 ; - oboInOwl:hasDbXref UMLS:C1424721 ; oboInOwl:hasExactSynonym "FAIM2", "fas apoptotic inhibitory molecule 2", "lifeguard", "neuromembrane protein 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23017 ; - skos:exactMatch HGNC_symbol:FAIM2 ; + skos:exactMatch UMLS:C1424721, + HGNC:17067, + HGNC_symbol:FAIM2 ; biolink:category biolink:Gene . OMIM:604308 a owl:Class ; @@ -187381,22 +193468,23 @@ OMIM:604308 a owl:Class ; PMID:21332468, PMID:2739055, PMID:8406497 ; - oboInOwl:hasDbXref UMLS:C1858556 ; oboInOwl:hasExactSynonym "mass phenotype", "mass syndrome", "overlap connective tissue disease" ; + skos:exactMatch UMLS:C1858556 ; biolink:category biolink:Disease . OMIM:604309 a owl:Class ; rdfs:label "SLC13A4" ; IAO:0000142 PMID:10535998 ; - oboInOwl:hasDbXref UMLS:C1423758 ; oboInOwl:hasExactSynonym "SLC13A4", "solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 4", "sulfate transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26266 ; - skos:exactMatch HGNC_symbol:SLC13A4 ; + skos:exactMatch UMLS:C1423758, + HGNC:15827, + HGNC_symbol:SLC13A4 ; biolink:category biolink:Gene . OMIM:604310 a owl:Class ; @@ -187407,7 +193495,6 @@ OMIM:604310 a owl:Class ; PMID:22461475 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:614171 ; - oboInOwl:hasDbXref UMLS:C1418225 ; oboInOwl:hasExactSynonym "BLOC1S6", "biogenesis of lysosome-related organelles complex 1, subunit 6", "bloc1, subunit 6", @@ -187417,7 +193504,9 @@ OMIM:604310 a owl:Class ; "pallidin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26258 ; - skos:exactMatch HGNC_symbol:BLOC1S6 ; + skos:exactMatch UMLS:C1418225, + HGNC:8549, + HGNC_symbol:BLOC1S6 ; biolink:category biolink:Gene . OMIM:604311 a owl:Class ; @@ -187439,7 +193528,6 @@ OMIM:604311 a owl:Class ; PMID:9325263, PMID:9444950, PMID:9653119 ; - oboInOwl:hasDbXref UMLS:C1335237 ; oboInOwl:hasExactSynonym "MED1", "cofactor required for sp1 transcriptional activation, subunit 1", "crsp, 200-kd subunit", @@ -187453,7 +193541,9 @@ OMIM:604311 a owl:Class ; "vitamin d receptor-interacting protein, 230-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5469 ; - skos:exactMatch HGNC_symbol:MED1 ; + skos:exactMatch UMLS:C1335237, + HGNC:9234, + HGNC_symbol:MED1 ; biolink:category biolink:Gene . OMIM:604312 a owl:Class ; @@ -187502,14 +193592,15 @@ OMIM:604312 a owl:Class ; PMID:9369956 ; RO:0002525 CHR:9606chr20p11.21 ; RO:0003303 OMIM:611953 ; - oboInOwl:hasDbXref UMLS:C1413772 ; oboInOwl:hasExactSynonym "CST3", "cystatin 3", "cystatin c", "gamma-trace" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1471 ; - skos:exactMatch HGNC_symbol:CST3 ; + skos:exactMatch UMLS:C1413772, + HGNC:2475, + HGNC_symbol:CST3 ; biolink:category biolink:Gene . OMIM:604313 a owl:Class ; @@ -187539,31 +193630,32 @@ OMIM:604313 a owl:Class ; PMID:8908517 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:230200 ; - oboInOwl:hasDbXref UMLS:C0268155, - UMLS:C1414948 ; oboInOwl:hasExactSynonym "GALK1", "galactokinase 1", "galk", "gk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2584 ; - skos:exactMatch HGNC_symbol:GALK1 ; + skos:exactMatch UMLS:C0268155, + UMLS:C1414948, + HGNC:4118, + HGNC_symbol:GALK1 ; biolink:category biolink:Gene . OMIM:604314 a owl:Class ; rdfs:label "blepharophimosis with facial and genital anomalies and mental retardation" ; IAO:0000142 PMID:10528253, PMID:16700052 ; - oboInOwl:hasDbXref UMLS:C1858538 ; oboInOwl:hasExactSynonym "blepharophimosis with facial and genital anomalies and mental retardation", "blepharophimosis-mental retardation syndrome, verloes iia" ; + skos:exactMatch UMLS:C1858538 ; biolink:category biolink:Disease . OMIM:604315 a owl:Class ; rdfs:label "anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome" ; IAO:0000142 PMID:10528244 ; - oboInOwl:hasDbXref UMLS:C1858537 ; - oboInOwl:hasExactSynonym "anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome" . + oboInOwl:hasExactSynonym "anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome" ; + skos:exactMatch UMLS:C1858537 . OMIM:604318 a owl:Class ; rdfs:label "GTF2IRD1" ; @@ -187578,7 +193670,6 @@ OMIM:604318 a owl:Class ; PMID:18326499, PMID:20007321, PMID:9774679 ; - oboInOwl:hasDbXref UMLS:C1415349 ; oboInOwl:hasExactSynonym "GTF2IRD1", "binding factor for early enhancer", "general transcription factor 3", @@ -187588,7 +193679,9 @@ OMIM:604318 a owl:Class ; "wbscr11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9569 ; - skos:exactMatch HGNC_symbol:GTF2IRD1 ; + skos:exactMatch UMLS:C1415349, + HGNC:4661, + HGNC_symbol:GTF2IRD1 ; biolink:category biolink:Gene . OMIM:604319 a owl:Class ; @@ -187606,13 +193699,14 @@ OMIM:604319 a owl:Class ; PMID:21536674 ; RO:0002525 CHR:9606chr14q12 ; RO:0003303 OMIM:268130 ; - oboInOwl:hasDbXref UMLS:C1336631 ; oboInOwl:hasExactSynonym "TINF2", "tin2", "trf1-interacting nuclear factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26277 ; - skos:exactMatch HGNC_symbol:TINF2 ; + skos:exactMatch UMLS:C1336631, + HGNC:11824, + HGNC_symbol:TINF2 ; biolink:category biolink:Gene . OMIM:604322 a owl:Class ; @@ -187639,14 +193733,15 @@ OMIM:604322 a owl:Class ; PMID:9852127 ; RO:0002525 CHR:9606chr6q13 ; RO:0003303 OMIM:269920 ; - oboInOwl:hasDbXref UMLS:C1420113 ; oboInOwl:hasExactSynonym "SLC17A5", "sialin", "solute carrier family 17 (acidic sugar transporter), member 5", "solute carrier family 17 (sodium phosphate cotransporter), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26503 ; - skos:exactMatch HGNC_symbol:SLC17A5 ; + skos:exactMatch UMLS:C1420113, + HGNC:10933, + HGNC_symbol:SLC17A5 ; biolink:category biolink:Gene . OMIM:604323 a owl:Class ; @@ -187659,22 +193754,23 @@ OMIM:604323 a owl:Class ; PMID:9813153, PMID:9827529, PMID:9889399 ; - oboInOwl:hasDbXref UMLS:C1412078 ; oboInOwl:hasExactSynonym "ABCC3", "atp-binding cassette, subfamily c, member 3", "canalicular multispecific organic anion transporter 2", "multidrug resistance-associated protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8714 ; - skos:exactMatch HGNC_symbol:ABCC3 ; + skos:exactMatch UMLS:C1412078, + HGNC:54, + HGNC_symbol:ABCC3 ; biolink:category biolink:Gene . OMIM:604324 a owl:Class ; rdfs:label "acne, adult" ; IAO:0000142 PMID:10468803, PMID:12485434 ; - oboInOwl:hasDbXref UMLS:C1858506 ; - oboInOwl:hasExactSynonym "acne, adult" . + oboInOwl:hasExactSynonym "acne, adult" ; + skos:exactMatch UMLS:C1858506 . OMIM:604325 a owl:Class ; rdfs:label "PPP2R2B" ; @@ -187692,7 +193788,6 @@ OMIM:604325 a owl:Class ; PMID:9852076 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:604326 ; - oboInOwl:hasDbXref UMLS:C1418839 ; oboInOwl:hasExactSynonym "PPP2R2B", "b55-beta", "pp2ab-beta", @@ -187702,7 +193797,9 @@ OMIM:604325 a owl:Class ; "protein phosphatase 2, regulatory subunit b, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5521 ; - skos:exactMatch HGNC_symbol:PPP2R2B ; + skos:exactMatch UMLS:C1418839, + HGNC:9305, + HGNC_symbol:PPP2R2B ; biolink:category biolink:Gene . OMIM:604327 a owl:Class ; @@ -187721,7 +193818,6 @@ OMIM:604327 a owl:Class ; PMID:3631078 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:130070 ; - oboInOwl:hasDbXref UMLS:C1412725 ; oboInOwl:hasExactSynonym "B4GALT7", "beta-1,4-galactosyltransferase 7", "galactosyltransferase 1", @@ -187729,7 +193825,9 @@ OMIM:604327 a owl:Class ; "xylosylprotein 4-beta-galactosyltransferase, polypeptide 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11285 ; - skos:exactMatch HGNC_symbol:B4GALT7 ; + skos:exactMatch UMLS:C1412725, + HGNC:930, + HGNC_symbol:B4GALT7 ; biolink:category biolink:Gene . OMIM:604328 a owl:Class ; @@ -187743,14 +193841,15 @@ OMIM:604328 a owl:Class ; PMID:31775157, PMID:9489704, PMID:9836642 ; - oboInOwl:hasDbXref UMLS:C1420432 ; oboInOwl:hasExactSynonym "SSRP1", "chromatin-specific transcription elongation factor, 80-kd subunit", "fact, 80-kd subunit", "structure-specific recognition protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6749 ; - skos:exactMatch HGNC_symbol:SSRP1 ; + skos:exactMatch UMLS:C1420432, + HGNC:11327, + HGNC_symbol:SSRP1 ; biolink:category biolink:Gene . OMIM:604330 a owl:Class ; @@ -187759,13 +193858,14 @@ OMIM:604330 a owl:Class ; PMID:8647802 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:618456 ; - oboInOwl:hasDbXref UMLS:C1333705 ; oboInOwl:hasExactSynonym "GRAP", "grb2-related adaptor protein", "growth factor receptor-bound protein 2-related adaptor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10750 ; - skos:exactMatch HGNC_symbol:GRAP ; + skos:exactMatch UMLS:C1333705, + HGNC:4562, + HGNC_symbol:GRAP ; biolink:category biolink:Gene . OMIM:604331 a owl:Class ; @@ -187774,7 +193874,6 @@ OMIM:604331 a owl:Class ; PMID:11939413, PMID:16239144, PMID:17310990 ; - oboInOwl:hasDbXref UMLS:C1333210 ; oboInOwl:hasExactSynonym "INTS6", "dead/h box 26", "deleted 1n cancer 1", @@ -187782,7 +193881,9 @@ OMIM:604331 a owl:Class ; "integrator complex subunit 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26512 ; - skos:exactMatch HGNC_symbol:INTS6 ; + skos:exactMatch UMLS:C1333210, + HGNC:14879, + HGNC_symbol:INTS6 ; biolink:category biolink:Gene . OMIM:604332 a owl:Class ; @@ -187790,15 +193891,16 @@ OMIM:604332 a owl:Class ; IAO:0000142 PMID:10477709 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:601626 ; - oboInOwl:hasDbXref UMLS:C1413390, - UMLS:C2676690 ; oboInOwl:hasExactSynonym "CHIC2", "brx-like gene translocated 1n leukemia", "btl/etv6 fusion gene", "cysteine-rich hydrophobic domain protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26511 ; - skos:exactMatch HGNC_symbol:CHIC2 ; + skos:exactMatch UMLS:C1413390, + UMLS:C2676690, + HGNC:1935, + HGNC_symbol:CHIC2 ; biolink:category biolink:Gene . OMIM:604333 a owl:Class ; @@ -187810,14 +193912,15 @@ OMIM:604333 a owl:Class ; PMID:23891004, PMID:8943350, PMID:9556563 ; - oboInOwl:hasDbXref UMLS:C1538079 ; oboInOwl:hasExactSynonym "CIAO1", "cia1", "wd repeat-containing protein 39", "wd40 repeat-containing protein ciao1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9391 ; - skos:exactMatch HGNC_symbol:CIAO1 ; + skos:exactMatch UMLS:C1538079, + HGNC:14280, + HGNC_symbol:CIAO1 ; biolink:category biolink:Gene . OMIM:604334 a owl:Class ; @@ -187826,20 +193929,21 @@ OMIM:604334 a owl:Class ; PMID:1565468, PMID:2840623, PMID:3274085 ; - oboInOwl:hasDbXref UMLS:C1421407 ; oboInOwl:hasExactSynonym "USP6", "tre2 oncogene", "ubiquitin-specific protease 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9098 ; - skos:exactMatch HGNC_symbol:USP6 ; + skos:exactMatch UMLS:C1421407, + HGNC:12629, + HGNC_symbol:USP6 ; biolink:category biolink:Gene . OMIM:604335 a owl:Class ; rdfs:label "reflex sympathetic dystrophy" ; IAO:0000142 PMID:10522900 ; - oboInOwl:hasDbXref UMLS:C0034931 ; - oboInOwl:hasExactSynonym "reflex sympathetic dystrophy" . + oboInOwl:hasExactSynonym "reflex sympathetic dystrophy" ; + skos:exactMatch UMLS:C0034931 . OMIM:604336 a owl:Class ; rdfs:label "TPTE" ; @@ -187847,12 +193951,13 @@ OMIM:604336 a owl:Class ; PMID:11030409, PMID:11810268, PMID:14659893 ; - oboInOwl:hasDbXref UMLS:C1420883 ; oboInOwl:hasExactSynonym "TPTE", "transmembrane phosphatase with tensin homology" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7179 ; - skos:exactMatch HGNC_symbol:TPTE ; + skos:exactMatch UMLS:C1420883, + HGNC:12023, + HGNC_symbol:TPTE ; biolink:category biolink:Gene . OMIM:604337 a owl:Class ; @@ -187860,13 +193965,14 @@ OMIM:604337 a owl:Class ; IAO:0000142 PMID:10095065, PMID:10584316, PMID:11071307 ; - oboInOwl:hasDbXref UMLS:C1413448 ; oboInOwl:hasExactSynonym "CLCA3P", "chloride channel accessory 3, pseudogene", "chloride channel, calcium-activated, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9629 ; - skos:exactMatch HGNC_symbol:CLCA3P ; + skos:exactMatch UMLS:C1413448, + HGNC:2017, + HGNC_symbol:CLCA3P ; biolink:category biolink:Gene . OMIM:604338 a owl:Class ; @@ -187891,24 +193997,26 @@ OMIM:604344 a owl:Class ; rdfs:label "MAN1A1" ; IAO:0000142 PMID:8223597, PMID:9592125 ; - oboInOwl:hasDbXref UMLS:C1416992 ; oboInOwl:hasExactSynonym "MAN1A1", "mannosidase, alpha, class 1a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4121 ; - skos:exactMatch HGNC_symbol:MAN1A1 ; + skos:exactMatch UMLS:C1416992, + HGNC:6821, + HGNC_symbol:MAN1A1 ; biolink:category biolink:Gene . OMIM:604345 a owl:Class ; rdfs:label "MAN1A2" ; IAO:0000142 PMID:22319583, PMID:9592125 ; - oboInOwl:hasDbXref UMLS:C1416993 ; oboInOwl:hasExactSynonym "MAN1A2", "mannosidase, alpha, class 1a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10905 ; - skos:exactMatch HGNC_symbol:MAN1A2 ; + skos:exactMatch UMLS:C1416993, + HGNC:6822, + HGNC_symbol:MAN1A2 ; biolink:category biolink:Gene . OMIM:604346 a owl:Class ; @@ -187922,13 +194030,14 @@ OMIM:604346 a owl:Class ; PMID:29908352 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:614202 ; - oboInOwl:hasDbXref UMLS:C1416994, - UMLS:C3280127 ; oboInOwl:hasExactSynonym "MAN1B1", "mannosidase, alpha, class 1b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11253 ; - skos:exactMatch HGNC_symbol:MAN1B1 ; + skos:exactMatch UMLS:C1416994, + UMLS:C3280127, + HGNC:6823, + HGNC_symbol:MAN1B1 ; biolink:category biolink:Gene . OMIM:604347 a owl:Class ; @@ -187937,7 +194046,6 @@ OMIM:604347 a owl:Class ; PMID:12657633, PMID:26740623, PMID:9931435 ; - oboInOwl:hasDbXref UMLS:C1824080 ; oboInOwl:hasExactSynonym "ZRANB2", "zinc finger protein 265", "zinc finger ran-binding domain-containing protein 2", @@ -187945,7 +194053,9 @@ OMIM:604347 a owl:Class ; "zinc finger, splicing" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9406 ; - skos:exactMatch HGNC_symbol:ZRANB2 ; + skos:exactMatch UMLS:C1824080, + HGNC:13058, + HGNC_symbol:ZRANB2 ; biolink:category biolink:Gene . OMIM:604349 a owl:Class ; @@ -187956,24 +194066,26 @@ OMIM:604349 a owl:Class ; PMID:21572413 ; RO:0002525 CHR:9606chr9q34.12 ; RO:0003303 OMIM:614115 ; - oboInOwl:hasDbXref UMLS:C1416787 ; oboInOwl:hasExactSynonym "LAMC3", "laminin, gamma-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10319 ; - skos:exactMatch HGNC_symbol:LAMC3 ; + skos:exactMatch UMLS:C1416787, + HGNC:6494, + HGNC_symbol:LAMC3 ; biolink:category biolink:Gene . OMIM:604351 a owl:Class ; rdfs:label "PHF2" ; IAO:0000142 PMID:10051327, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1418528 ; oboInOwl:hasExactSynonym "PHF2", "phd finger protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5253 ; - skos:exactMatch HGNC_symbol:PHF2 ; + skos:exactMatch UMLS:C1418528, + HGNC:8920, + HGNC_symbol:PHF2 ; biolink:category biolink:Gene . OMIM:604352 a owl:Class ; @@ -187981,23 +194093,24 @@ OMIM:604352 a owl:Class ; IAO:0000142 PMID:10587582, PMID:12402266, PMID:16273391 ; - oboInOwl:hasDbXref UMLS:C1858493 ; oboInOwl:hasExactSynonym "FEB4", "convulsions, familial febrile, 4", "febrile seizures, familial, 4" ; rdfs:subClassOf OMIMPS:121210 ; + skos:exactMatch UMLS:C1858493 ; biolink:category biolink:Disease . OMIM:604353 a owl:Class ; rdfs:label "CHORDC1" ; IAO:0000142 PMID:10571178 ; - oboInOwl:hasDbXref UMLS:C1422726 ; oboInOwl:hasExactSynonym "CHORDC1", "chord domain-containing protein 1", "cysteine- and histidine-rich domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26973 ; - skos:exactMatch HGNC_symbol:CHORDC1 ; + skos:exactMatch UMLS:C1422726, + HGNC:14525, + HGNC_symbol:CHORDC1 ; biolink:category biolink:Gene . OMIM:604354 a owl:Class ; @@ -188005,13 +194118,14 @@ OMIM:604354 a owl:Class ; IAO:0000142 PMID:10556305, PMID:10894927, PMID:29700228 ; - oboInOwl:hasDbXref UMLS:C1417888 ; oboInOwl:hasExactSynonym "NUFIP1", "nuclear fmrp-interacting protein", "nuclear fmrp-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26747 ; - skos:exactMatch HGNC_symbol:NUFIP1 ; + skos:exactMatch UMLS:C1417888, + HGNC:8057, + HGNC_symbol:NUFIP1 ; biolink:category biolink:Gene . OMIM:604355 a owl:Class ; @@ -188022,13 +194136,14 @@ OMIM:604355 a owl:Class ; PMID:10995575, PMID:11056392, PMID:17360540 ; - oboInOwl:hasDbXref UMLS:C1413611 ; oboInOwl:hasExactSynonym "COPG2", "coat protein, nonclathrin, gamma-2", "coatomer protein complex, subunit gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26958 ; - skos:exactMatch HGNC_symbol:COPG2 ; + skos:exactMatch UMLS:C1413611, + HGNC:2237, + HGNC_symbol:COPG2 ; biolink:category biolink:Gene . OMIM:604357 a owl:Class ; @@ -188038,13 +194153,14 @@ OMIM:604357 a owl:Class ; PMID:25719200 ; RO:0002525 CHR:9606chr4q31.3 ; RO:0003303 OMIM:615877 ; - oboInOwl:hasDbXref UMLS:C1416955 ; oboInOwl:hasExactSynonym "MAB21L2", "mab21, c. elegans, homolog-like 2", "mab21-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10586 ; - skos:exactMatch HGNC_symbol:MAB21L2 ; + skos:exactMatch UMLS:C1416955, + HGNC:6758, + HGNC_symbol:MAB21L2 ; biolink:category biolink:Gene . OMIM:604358 a owl:Class ; @@ -188055,14 +194171,15 @@ OMIM:604358 a owl:Class ; PMID:9305759 ; RO:0002525 CHR:9606chr3q22.3 ; RO:0003303 OMIM:617635 ; - oboInOwl:hasDbXref UMLS:C1420448, - UMLS:C4539951 ; oboInOwl:hasExactSynonym "STAG1", "cohesin subunit sa1", "stromal antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10274 ; - skos:exactMatch HGNC_symbol:STAG1 ; + skos:exactMatch UMLS:C1420448, + UMLS:C4539951, + HGNC:11354, + HGNC_symbol:STAG1 ; biolink:category biolink:Gene . OMIM:604359 a owl:Class ; @@ -188083,7 +194200,6 @@ OMIM:604362 a owl:Class ; PMID:15520277, PMID:17067998, PMID:9826547 ; - oboInOwl:hasDbXref UMLS:C1416885 ; oboInOwl:hasExactSynonym "LMO7", "f-box only protein 20", "fbx20", @@ -188091,14 +194207,16 @@ OMIM:604362 a owl:Class ; "lim domain only 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4008 ; - skos:exactMatch HGNC_symbol:LMO7 ; + skos:exactMatch UMLS:C1416885, + HGNC:6646, + HGNC_symbol:LMO7 ; biolink:category biolink:Gene . OMIM:604363 a owl:Class ; rdfs:label "myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders" ; IAO:0000142 PMID:10588831 ; - oboInOwl:hasDbXref UMLS:C1858478 ; - oboInOwl:hasExactSynonym "myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders" . + oboInOwl:hasExactSynonym "myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders" ; + skos:exactMatch UMLS:C1858478 . OMIM:604365 a owl:Class ; rdfs:label "PROM1" ; @@ -188124,11 +194242,6 @@ OMIM:604365 a owl:Class ; PMID:9389721 ; RO:0002525 CHR:9606chr4p15.32 ; RO:0003303 OMIM:603786 ; - oboInOwl:hasDbXref UMLS:C0339512, - UMLS:C1418946, - UMLS:C1863534, - UMLS:C2675210, - UMLS:C2677516 ; oboInOwl:hasExactSynonym "PROM1", "ac133", "cd133 antigen", @@ -188136,7 +194249,13 @@ OMIM:604365 a owl:Class ; "prominin, mouse, homolog-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8842 ; - skos:exactMatch HGNC_symbol:PROM1 ; + skos:exactMatch UMLS:C0339512, + UMLS:C1418946, + UMLS:C1863534, + UMLS:C2675210, + UMLS:C2677516, + HGNC:9454, + HGNC_symbol:PROM1 ; biolink:category biolink:Gene . OMIM:604366 a owl:Class ; @@ -188146,12 +194265,13 @@ OMIM:604366 a owl:Class ; PMID:7698982 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:244400 ; - oboInOwl:hasDbXref UMLS:C1414105 ; oboInOwl:hasExactSynonym "DNAI1", "dynein, axonemal, intermediate chain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27019 ; - skos:exactMatch HGNC_symbol:DNAI1 ; + skos:exactMatch UMLS:C1414105, + HGNC:2954, + HGNC_symbol:DNAI1 ; biolink:category biolink:Gene . OMIM:604367 a owl:Class ; @@ -188160,11 +194280,11 @@ OMIM:604367 a owl:Class ; PMID:11788685, PMID:12453919, PMID:12663460 ; - oboInOwl:hasDbXref UMLS:C1720861 ; oboInOwl:hasExactSynonym "FPLD3", "lipodystrophy, familial partial, iia 3", "lipodystrophy, familial partial, associated with pparg mutations" ; rdfs:subClassOf OMIMPS:151660 ; + skos:exactMatch UMLS:C1720861 ; biolink:category biolink:Disease . OMIM:604368 a owl:Class ; @@ -188176,13 +194296,14 @@ OMIM:604368 a owl:Class ; PMID:7814155 ; RO:0002525 CHR:9606chr7p15.3 ; RO:0003303 OMIM:617920 ; - oboInOwl:hasDbXref UMLS:C1415205 ; oboInOwl:hasExactSynonym "GPNMB", "glycoprotein nmb", "nmb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10457 ; - skos:exactMatch HGNC_symbol:GPNMB ; + skos:exactMatch UMLS:C1415205, + HGNC:4462, + HGNC_symbol:GPNMB ; biolink:category biolink:Gene . OMIM:604369 a owl:Class ; @@ -188207,10 +194328,10 @@ OMIM:604369 a owl:Class ; PMID:7885532, PMID:8198127, PMID:8921371 ; - oboInOwl:hasDbXref UMLS:C1096903 ; oboInOwl:hasExactSynonym "SD", "salla disease", "sialuria, finnish iia" ; + skos:exactMatch UMLS:C1096903 ; biolink:category biolink:Disease . OMIM:604370 a owl:Class ; @@ -188296,15 +194417,15 @@ OMIM:604370 a owl:Class ; PMID:9758598, PMID:9792861, PMID:9988281 ; - oboInOwl:hasDbXref UMLS:C2676676, - UMLS:C2676677, - UMLS:C2676678 ; oboInOwl:hasExactSynonym "BROVCA1", "breast cancer, familial, susceptibility to, 1", "breast-ovarian cancer, familial, susceptibility to, 1", "hboc1", "ovarian cancer, familial, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:604370 ; + skos:exactMatch UMLS:C2676676, + UMLS:C2676677, + UMLS:C2676678 ; biolink:category biolink:Disease . OMIM:604371 a owl:Class ; @@ -188312,7 +194433,6 @@ OMIM:604371 a owl:Class ; IAO:0000142 PMID:10329003, PMID:10444326, PMID:23784006 ; - oboInOwl:hasDbXref UMLS:C1415540 ; oboInOwl:hasExactSynonym "HHLA2", "b7 homolog 5", "b7 homolog 7", @@ -188320,20 +194440,23 @@ OMIM:604371 a owl:Class ; "human endogenous retrovirus-h long terminal repeat-associating 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11148 ; - skos:exactMatch HGNC_symbol:HHLA2 ; + skos:exactMatch UMLS:C1415540, + HGNC:4905, + HGNC_symbol:HHLA2 ; biolink:category biolink:Gene . OMIM:604372 a owl:Class ; rdfs:label "HHLA3" ; IAO:0000142 PMID:10329003, PMID:10444326 ; - oboInOwl:hasDbXref UMLS:C1415541 ; oboInOwl:hasExactSynonym "HHLA3", "herv-h ltr-associating 3", "human endogenous retrovirus-h long terminal repeat-associating 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11147 ; - skos:exactMatch HGNC_symbol:HHLA3 ; + skos:exactMatch UMLS:C1415541, + HGNC:4906, + HGNC_symbol:HHLA3 ; biolink:category biolink:Gene . OMIM:604373 a owl:Class ; @@ -188380,8 +194503,6 @@ OMIM:604373 a owl:Class ; PMID:9836640 ; RO:0002525 CHR:9606chr22q12.1 ; RO:0003303 OMIM:176807 ; - oboInOwl:hasDbXref UMLS:C1424448, - UMLS:C1858433 ; oboInOwl:hasExactSynonym "CHEK2", "cds1, s. pombe, homolog of", "checkpoint kinase 2", @@ -188390,7 +194511,10 @@ OMIM:604373 a owl:Class ; "rad53, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11200 ; - skos:exactMatch HGNC_symbol:CHEK2 ; + skos:exactMatch UMLS:C1424448, + UMLS:C1858433, + HGNC:16627, + HGNC_symbol:CHEK2 ; biolink:category biolink:Gene . OMIM:604374 a owl:Class ; @@ -188398,13 +194522,14 @@ OMIM:604374 a owl:Class ; IAO:0000142 PMID:10191092, PMID:2072922, PMID:8415626 ; - oboInOwl:hasDbXref UMLS:C1417432 ; oboInOwl:hasExactSynonym "MTL5", "metallothionein-like 5, testis-specific", "testis-specific metallothionein-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9633 ; - skos:exactMatch HGNC_symbol:TESMIN ; + skos:exactMatch UMLS:C1417432, + HGNC:7446, + HGNC_symbol:TESMIN ; biolink:category biolink:Gene . OMIM:604375 a owl:Class ; @@ -188419,14 +194544,15 @@ OMIM:604375 a owl:Class ; PMID:9252367, PMID:9407053, PMID:9630564 ; - oboInOwl:hasDbXref UMLS:C1366514 ; oboInOwl:hasExactSynonym "HGS", "hepatocyte growth factor-regulated tyrosine kinase substrate", "hgf-regulated tyrosine kinase substrate", "human growth factor-regulated tyrosine kinase substrate" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9146 ; - skos:exactMatch HGNC_symbol:HGS ; + skos:exactMatch UMLS:C1366514, + HGNC:4897, + HGNC_symbol:HGS ; biolink:category biolink:Gene . OMIM:604376 a owl:Class ; @@ -188435,13 +194561,14 @@ OMIM:604376 a owl:Class ; PMID:12684038, PMID:24865967, PMID:9792637 ; - oboInOwl:hasDbXref UMLS:C1334528 ; oboInOwl:hasExactSynonym "MPZL1", "myelin protein zero-like 1", "protein zero-related" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9019 ; - skos:exactMatch HGNC_symbol:MPZL1 ; + skos:exactMatch UMLS:C1334528, + HGNC:7226, + HGNC_symbol:MPZL1 ; biolink:category biolink:Gene . OMIM:604377 a owl:Class ; @@ -188455,14 +194582,14 @@ OMIM:604377 a owl:Class ; PMID:15210538, PMID:18924171, PMID:19837698 ; - oboInOwl:hasDbXref UMLS:C1858424, - UMLS:C5399977, - ORPHA:1561 ; oboInOwl:hasExactSynonym "MC4DN2", "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1", "cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy", "mitochondrial complex 4 deficiency, nuclear iia 2" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C1858424, + UMLS:C5399977, + ORPHA:1561 ; biolink:category biolink:Disease . OMIM:604378 a owl:Class ; @@ -188490,32 +194617,33 @@ OMIM:604378 a owl:Class ; PMID:31503548, PMID:32051584, PMID:9765397 ; - oboInOwl:hasDbXref UMLS:C1412785 ; oboInOwl:hasExactSynonym "BECN1", "beclin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8678 ; - skos:exactMatch HGNC_symbol:BECN1 ; + skos:exactMatch UMLS:C1412785, + HGNC:1034, + HGNC_symbol:BECN1 ; biolink:category biolink:Gene . OMIM:604380 a owl:Class ; rdfs:label "ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia" ; IAO:0000142 PMID:10594882, PMID:1442878 ; - oboInOwl:hasDbXref UMLS:C1858422 ; - oboInOwl:hasExactSynonym "ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia" . + oboInOwl:hasExactSynonym "ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia" ; + skos:exactMatch UMLS:C1858422 . OMIM:604381 a owl:Class ; rdfs:label "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" ; IAO:0000142 PMID:10533032 ; - oboInOwl:hasDbXref UMLS:C1858420 ; - oboInOwl:hasExactSynonym "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" . + oboInOwl:hasExactSynonym "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" ; + skos:exactMatch UMLS:C1858420 . OMIM:604382 a owl:Class ; rdfs:label "lissencephaly, familial, with cleft palate and cerebellar hypoplasia" ; IAO:0000142 PMID:10594886 ; - oboInOwl:hasDbXref UMLS:C1858419 ; - oboInOwl:hasExactSynonym "lissencephaly, familial, with cleft palate and cerebellar hypoplasia" . + oboInOwl:hasExactSynonym "lissencephaly, familial, with cleft palate and cerebellar hypoplasia" ; + skos:exactMatch UMLS:C1858419 . OMIM:604383 a owl:Class ; rdfs:label "GFI1B" ; @@ -188532,12 +194660,13 @@ OMIM:604383 a owl:Class ; PMID:9878267 ; RO:0002525 CHR:9606chr9q34.13 ; RO:0003303 OMIM:187900 ; - oboInOwl:hasDbXref UMLS:C1333670 ; oboInOwl:hasExactSynonym "GFI1B", "growth factor-independent 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8328 ; - skos:exactMatch HGNC_symbol:GFI1B ; + skos:exactMatch UMLS:C1333670, + HGNC:4238, + HGNC_symbol:GFI1B ; biolink:category biolink:Gene . OMIM:604384 a owl:Class ; @@ -188557,7 +194686,6 @@ OMIM:604384 a owl:Class ; PMID:3978039 ; RO:0002525 CHR:9606chr3q22.1 ; RO:0003303 OMIM:169600 ; - oboInOwl:hasDbXref UMLS:C1421881 ; oboInOwl:hasExactSynonym "ATP2C1", "atpase, ca(2+)-sequestering", "atpase, ca(2+)-transporting, iia 2c, member 1", @@ -188566,7 +194694,9 @@ OMIM:604384 a owl:Class ; "secretory pathway ca(2+) atpase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27032 ; - skos:exactMatch HGNC_symbol:ATP2C1 ; + skos:exactMatch UMLS:C1421881, + HGNC:13211, + HGNC_symbol:ATP2C1 ; biolink:category biolink:Gene . OMIM:604385 a owl:Class ; @@ -188583,16 +194713,17 @@ OMIM:604385 a owl:Class ; PMID:9671787 ; RO:0002525 CHR:9606chr3p22.2 ; RO:0003303 OMIM:615548 ; - oboInOwl:hasDbXref UMLS:C1419854, - UMLS:C3809882, - UMLS:C3809899 ; oboInOwl:hasExactSynonym "SCN11A", "nav1.9", "sodium channel, voltage-gated, iia xi, alpha subunit", "sodium voltage-gated channel, alpha subunit 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11280 ; - skos:exactMatch HGNC_symbol:SCN11A ; + skos:exactMatch UMLS:C1419854, + UMLS:C3809882, + UMLS:C3809899, + HGNC:10583, + HGNC_symbol:SCN11A ; biolink:category biolink:Gene . OMIM:604386 a owl:Class ; @@ -188617,15 +194748,16 @@ OMIM:604386 a owl:Class ; PMID:9712536 ; RO:0002525 CHR:9606chr8q23.3 ; RO:0003303 OMIM:190351 ; - oboInOwl:hasDbXref UMLS:C0432233, - UMLS:C1421175, - UMLS:C1860823 ; oboInOwl:hasExactSynonym "TRPS1", "trps1 gene", "zinc finger transcription factor trps1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7227 ; - skos:exactMatch HGNC_symbol:TRPS1 ; + skos:exactMatch UMLS:C0432233, + UMLS:C1421175, + UMLS:C1860823, + HGNC:12340, + HGNC_symbol:TRPS1 ; biolink:category biolink:Gene . OMIM:604387 a owl:Class ; @@ -188638,11 +194770,11 @@ OMIM:604387 a owl:Class ; PMID:19303681, PMID:7847359, PMID:9428452 ; - oboInOwl:hasDbXref UMLS:C1858392 ; oboInOwl:hasExactSynonym "NPHP3", "nephronophthisis 3", "nph3" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C1858392 ; biolink:category biolink:Disease . OMIM:604388 a owl:Class ; @@ -188650,12 +194782,13 @@ OMIM:604388 a owl:Class ; IAO:0000142 PMID:3113327, PMID:7606925, PMID:7665596 ; - oboInOwl:hasDbXref UMLS:C1415157 ; oboInOwl:hasExactSynonym "GNG4", "guanine nucleotide-binding protein, gamma-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2786 ; - skos:exactMatch HGNC_symbol:GNG4 ; + skos:exactMatch UMLS:C1415157, + HGNC:4407, + HGNC_symbol:GNG4 ; biolink:category biolink:Gene . OMIM:604389 a owl:Class ; @@ -188663,12 +194796,13 @@ OMIM:604389 a owl:Class ; IAO:0000142 PMID:3113327, PMID:7606925, PMID:7665596 ; - oboInOwl:hasDbXref UMLS:C1415153 ; oboInOwl:hasExactSynonym "GNG10", "guanine nucleotide-binding protein, gamma-10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2790 ; - skos:exactMatch HGNC_symbol:GNG10 ; + skos:exactMatch UMLS:C1415153, + HGNC:4402, + HGNC_symbol:GNG10 ; biolink:category biolink:Gene . OMIM:604390 a owl:Class ; @@ -188676,12 +194810,13 @@ OMIM:604390 a owl:Class ; IAO:0000142 PMID:3113327, PMID:7606925, PMID:7665596 ; - oboInOwl:hasDbXref UMLS:C1415154 ; oboInOwl:hasExactSynonym "GNG11", "guanine nucleotide-binding protein, gamma-11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2791 ; - skos:exactMatch HGNC_symbol:GNG11 ; + skos:exactMatch UMLS:C1415154, + HGNC:4403, + HGNC_symbol:GNG11 ; biolink:category biolink:Gene . OMIM:604392 a owl:Class ; @@ -188701,15 +194836,16 @@ OMIM:604392 a owl:Class ; PMID:25596619 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:604393 ; - oboInOwl:hasDbXref UMLS:C1412303, - UMLS:C1858386, - UMLS:C2751763, - UMLS:C2751764 ; oboInOwl:hasExactSynonym "AIPL1", "arylhydrocarbon-interacting receptor protein-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23746 ; - skos:exactMatch HGNC_symbol:AIPL1 ; + skos:exactMatch UMLS:C1412303, + UMLS:C1858386, + UMLS:C2751763, + UMLS:C2751764, + HGNC:359, + HGNC_symbol:AIPL1 ; biolink:category biolink:Gene . OMIM:604394 a owl:Class ; @@ -188720,12 +194856,13 @@ OMIM:604394 a owl:Class ; PMID:18084302, PMID:24089209, PMID:8423800 ; - oboInOwl:hasDbXref UMLS:C1333684 ; oboInOwl:hasExactSynonym "GNA12", "guanine nucleotide-binding protein, alpha-12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2768 ; - skos:exactMatch HGNC_symbol:GNA12 ; + skos:exactMatch UMLS:C1333684, + HGNC:4380, + HGNC_symbol:GNA12 ; biolink:category biolink:Gene . OMIM:604395 a owl:Class ; @@ -188746,13 +194883,14 @@ OMIM:604395 a owl:Class ; PMID:9823339 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:608089 ; - oboInOwl:hasDbXref UMLS:C1334511 ; oboInOwl:hasExactSynonym "DNA mismatch repair protein mlh3", "MLH3", "mutl, e. coli, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27030 ; - skos:exactMatch HGNC_symbol:MLH3 ; + skos:exactMatch UMLS:C1334511, + HGNC:7128, + HGNC_symbol:MLH3 ; biolink:category biolink:Gene . OMIM:604396 a owl:Class ; @@ -188766,25 +194904,27 @@ OMIM:604396 a owl:Class ; PMID:28671686, PMID:32296174, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1335812 ; oboInOwl:hasExactSynonym "SETDB1", "erg-associated protein with set domain", "kiaa0067", "set domain protein, bifurcated, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9869 ; - skos:exactMatch HGNC_symbol:SETDB1 ; + skos:exactMatch UMLS:C1335812, + HGNC:10761, + HGNC_symbol:SETDB1 ; biolink:category biolink:Gene . OMIM:604397 a owl:Class ; rdfs:label "GNA14" ; IAO:0000142 PMID:10191087 ; - oboInOwl:hasDbXref UMLS:C1415140 ; oboInOwl:hasExactSynonym "GNA14", "guanine nucleotide-binding protein, alpha-14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9630 ; - skos:exactMatch HGNC_symbol:GNA14 ; + skos:exactMatch UMLS:C1415140, + HGNC:4382, + HGNC_symbol:GNA14 ; biolink:category biolink:Gene . OMIM:604398 a owl:Class ; @@ -188793,7 +194933,6 @@ OMIM:604398 a owl:Class ; PMID:22155607, PMID:9504814, PMID:9806831 ; - oboInOwl:hasDbXref UMLS:C1417140 ; oboInOwl:hasExactSynonym "SCGB2A1", "lacryglobin", "lipophilin c", @@ -188802,7 +194941,9 @@ OMIM:604398 a owl:Class ; "secretoglobin, family 2a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4246 ; - skos:exactMatch HGNC_symbol:SCGB2A1 ; + skos:exactMatch UMLS:C1417140, + HGNC:7051, + HGNC_symbol:SCGB2A1 ; biolink:category biolink:Gene . OMIM:604399 a owl:Class ; @@ -188823,13 +194964,14 @@ OMIM:604399 a owl:Class ; PMID:8120638, PMID:9694658, PMID:9920093 ; - oboInOwl:hasDbXref UMLS:C1418825 ; oboInOwl:hasExactSynonym "PPP1R1B", "dopamine- and camp-regulated phosphoprotein, 32-kd", "protein phosphatase 1, regulatory subunit 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84152 ; - skos:exactMatch HGNC_symbol:PPP1R1B ; + skos:exactMatch UMLS:C1418825, + HGNC:9287, + HGNC_symbol:PPP1R1B ; biolink:category biolink:Gene . OMIM:604400 a owl:Class ; @@ -188839,11 +194981,11 @@ OMIM:604400 a owl:Class ; PMID:22725725, PMID:23812740, PMID:9860777 ; - oboInOwl:hasDbXref UMLS:C1858379 ; oboInOwl:hasExactSynonym "ARVD5", "arrhythmogenic right ventricular cardiomyopathy 5", "arrhythmogenic right ventricular dysplasia, familial, 5" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1858379 ; biolink:category biolink:Disease . OMIM:604402 a owl:Class ; @@ -188861,8 +195003,6 @@ OMIM:604402 a owl:Class ; PMID:9822625 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:609056 ; - oboInOwl:hasDbXref UMLS:C1539863, - UMLS:C1836824 ; oboInOwl:hasExactSynonym "ST3GAL5", "alpha-2,3-sialyltransferase 5", "cmp-neuac:lactosylceramide alpha-2,3-sialyltransferase", @@ -188872,7 +195012,10 @@ OMIM:604402 a owl:Class ; "st3 beta-galactoside alpha-2,3-sialyltransferase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8869 ; - skos:exactMatch HGNC_symbol:ST3GAL5 ; + skos:exactMatch UMLS:C1539863, + UMLS:C1836824, + HGNC:10872, + HGNC_symbol:ST3GAL5 ; biolink:category biolink:Gene . OMIM:604403 a owl:Class ; @@ -188891,15 +195034,15 @@ OMIM:604403 a owl:Class ; PMID:19522081, PMID:20484682, PMID:9126059 ; - oboInOwl:hasDbXref UMLS:C1858673, - UMLS:C2751756, - ORPHA:36387 ; oboInOwl:hasExactSynonym "GEFSP2", "febrile seizures, familial, 3a", "gefs+, iia 2", "generalized epilepsy with febrile seizures plus, iia 2" ; rdfs:subClassOf OMIMPS:121210, OMIMPS:604233 ; + skos:exactMatch UMLS:C1858673, + UMLS:C2751756, + ORPHA:36387 ; biolink:category biolink:Disease . OMIM:604404 a owl:Class ; @@ -188910,20 +195053,19 @@ OMIM:604404 a owl:Class ; PMID:22722203 ; RO:0002525 CHR:9606chr13q31.3-q32.1 ; RO:0003303 OMIM:258315 ; - oboInOwl:hasDbXref UMLS:C1415198 ; oboInOwl:hasExactSynonym "GPC6", "glypican 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10082 ; - skos:exactMatch HGNC_symbol:GPC6 ; + skos:exactMatch UMLS:C1415198, + HGNC:4454, + HGNC_symbol:GPC6 ; biolink:category biolink:Gene . OMIM:604405 a owl:Class ; rdfs:label "SIGLEC6" ; IAO:0000142 PMID:10428856, PMID:9465907 ; - oboInOwl:hasDbXref UMLS:C1420061, - UMLS:C1858373 ; oboInOwl:hasExactSynonym "SIGLEC6", "cd33 antigen-like", "cd33 antigen-like 1", @@ -188935,7 +195077,10 @@ OMIM:604405 a owl:Class ; "sialic acid-binding immunoglobulin-like lectin 6, soluble" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:946 ; - skos:exactMatch HGNC_symbol:SIGLEC6 ; + skos:exactMatch UMLS:C1420061, + UMLS:C1858373, + HGNC:10875, + HGNC_symbol:SIGLEC6 ; biolink:category biolink:Gene . OMIM:604406 a owl:Class ; @@ -188950,13 +195095,14 @@ OMIM:604406 a owl:Class ; PMID:24162846, PMID:7791744, PMID:8999798 ; - oboInOwl:hasDbXref UMLS:C1415139 ; oboInOwl:hasExactSynonym "GNA13", "g-alpha-13", "guanine nucleotide-binding protein, alpha-13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10672 ; - skos:exactMatch HGNC_symbol:GNA13 ; + skos:exactMatch UMLS:C1415139, + HGNC:4381, + HGNC_symbol:GNA13 ; biolink:category biolink:Gene . OMIM:604407 a owl:Class ; @@ -188966,12 +195112,13 @@ OMIM:604407 a owl:Class ; PMID:17925330, PMID:19797662, PMID:20026556 ; - oboInOwl:hasDbXref UMLS:C1416827 ; oboInOwl:hasExactSynonym "LETM1", "leucine zipper/ef-hand-containing transmembrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3954 ; - skos:exactMatch HGNC_symbol:LETM1 ; + skos:exactMatch UMLS:C1416827, + HGNC:6556, + HGNC_symbol:LETM1 ; biolink:category biolink:Gene . OMIM:604408 a owl:Class ; @@ -188982,26 +195129,28 @@ OMIM:604409 a owl:Class ; rdfs:label "GMEB1" ; IAO:0000142 PMID:10386584, PMID:10523663 ; - oboInOwl:hasDbXref UMLS:C1415130 ; oboInOwl:hasExactSynonym "GMEB1", "glucocorticoid modulatory element-binding protein 1", "parvovirus initiation factor, p96 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10691 ; - skos:exactMatch HGNC_symbol:GMEB1 ; + skos:exactMatch UMLS:C1415130, + HGNC:4370, + HGNC_symbol:GMEB1 ; biolink:category biolink:Gene . OMIM:604410 a owl:Class ; rdfs:label "SIGLEC7" ; IAO:0000142 PMID:10499918 ; - oboInOwl:hasDbXref UMLS:C1420062 ; oboInOwl:hasExactSynonym "SIGLEC7", "adhesion inhibitory receptor molecule 1", "p75", "sialic acid-binding immunoglobulin-like lectin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27036 ; - skos:exactMatch HGNC_symbol:SIGLEC7 ; + skos:exactMatch UMLS:C1420062, + HGNC:10876, + HGNC_symbol:SIGLEC7 ; biolink:category biolink:Gene . OMIM:604411 a owl:Class ; @@ -189015,12 +195164,13 @@ OMIM:604411 a owl:Class ; PMID:7956086, PMID:8088460, PMID:9490714 ; - oboInOwl:hasDbXref UMLS:C1416432 ; oboInOwl:hasExactSynonym "INCENP", "inner centromere protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3619 ; - skos:exactMatch HGNC_symbol:INCENP ; + skos:exactMatch UMLS:C1416432, + HGNC:6058, + HGNC_symbol:INCENP ; biolink:category biolink:Gene . OMIM:604413 a owl:Class ; @@ -189033,26 +195183,28 @@ OMIM:604414 a owl:Class ; PMID:2047873, PMID:7803819, PMID:8786150 ; - oboInOwl:hasDbXref UMLS:C1418744 ; oboInOwl:hasExactSynonym "POLR2F", "RNA polymerase ii, 14.4-kd subunit", "polymerase ii, rna, subunit f", "rpb6, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5435 ; - skos:exactMatch HGNC_symbol:POLR2F ; + skos:exactMatch UMLS:C1418744, + HGNC:9193, + HGNC_symbol:POLR2F ; biolink:category biolink:Gene . OMIM:604415 a owl:Class ; rdfs:label "STEAP1" ; IAO:0000142 PMID:10588738 ; - oboInOwl:hasDbXref UMLS:C1539881 ; oboInOwl:hasExactSynonym "STEAP1", "six-transmembrane epithelial antigen of prostate 1", "steap family member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26872 ; - skos:exactMatch HGNC_symbol:STEAP1 ; + skos:exactMatch UMLS:C1539881, + HGNC:11378, + HGNC_symbol:STEAP1 ; biolink:category biolink:Gene . OMIM:604417 a owl:Class ; @@ -189061,13 +195213,14 @@ OMIM:604417 a owl:Class ; PMID:25730767 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:616368 ; - oboInOwl:hasDbXref UMLS:C1706652 ; oboInOwl:hasExactSynonym "AFF4", "af4/fmr2 family, member 4", "all1-fused gene from chromosome 5q31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27125 ; - skos:exactMatch HGNC_symbol:AFF4 ; + skos:exactMatch UMLS:C1706652, + HGNC:17869, + HGNC_symbol:AFF4 ; biolink:category biolink:Gene . OMIM:604418 a owl:Class ; @@ -189095,13 +195248,14 @@ OMIM:604418 a owl:Class ; PMID:9799458 ; RO:0002525 CHR:9606chr13q12.11 ; RO:0003303 OMIM:129500 ; - oboInOwl:hasDbXref UMLS:C1415081 ; oboInOwl:hasExactSynonym "GJB6", "connexin 30", "gap junction protein, beta-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10804 ; - skos:exactMatch HGNC_symbol:GJB6 ; + skos:exactMatch UMLS:C1415081, + HGNC:4288, + HGNC_symbol:GJB6 ; biolink:category biolink:Gene . OMIM:604419 a owl:Class ; @@ -189110,12 +195264,13 @@ OMIM:604419 a owl:Class ; PMID:16172387, PMID:25642960, PMID:25642963 ; - oboInOwl:hasDbXref UMLS:C1418738 ; oboInOwl:hasExactSynonym "POLQ", "polymerase, dna, theta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10721 ; - skos:exactMatch HGNC_symbol:POLQ ; + skos:exactMatch UMLS:C1418738, + HGNC:9186, + HGNC_symbol:POLQ ; biolink:category biolink:Gene . OMIM:604420 a owl:Class ; @@ -189130,37 +195285,40 @@ OMIM:604420 a owl:Class ; PMID:20676125, PMID:8096636, PMID:8103988 ; - oboInOwl:hasDbXref UMLS:C1415537 ; oboInOwl:hasExactSynonym "HHEX", "hematopoietically expressed homeobox", "prhx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3087 ; - skos:exactMatch HGNC_symbol:HHEX ; + skos:exactMatch UMLS:C1415537, + HGNC:4901, + HGNC_symbol:HHEX ; biolink:category biolink:Gene . OMIM:604421 a owl:Class ; rdfs:label "PDCL" ; IAO:0000142 PMID:10095058, PMID:8248177 ; - oboInOwl:hasDbXref UMLS:C1418411 ; oboInOwl:hasExactSynonym "PDCL", "phosducin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5082 ; - skos:exactMatch HGNC_symbol:PDCL ; + skos:exactMatch UMLS:C1418411, + HGNC:8770, + HGNC_symbol:PDCL ; biolink:category biolink:Gene . OMIM:604422 a owl:Class ; rdfs:label "PNLIPRP1" ; IAO:0000142 PMID:1379598 ; - oboInOwl:hasDbXref UMLS:C1418709 ; oboInOwl:hasExactSynonym "PNLIPRP1", "pancreatic lipase-related protein 1", "plrp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5407 ; - skos:exactMatch HGNC_symbol:PNLIPRP1 ; + skos:exactMatch UMLS:C1418709, + HGNC:9156, + HGNC_symbol:PNLIPRP1 ; biolink:category biolink:Gene . OMIM:604423 a owl:Class ; @@ -189168,13 +195326,14 @@ OMIM:604423 a owl:Class ; IAO:0000142 PMID:1379598, PMID:16421573, PMID:2302735 ; - oboInOwl:hasDbXref UMLS:C1418710 ; oboInOwl:hasExactSynonym "PNLIPRP2", "pancreatic lipase-related protein 2", "plrp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5408 ; - skos:exactMatch HGNC_symbol:PNLIPRP2 ; + skos:exactMatch UMLS:C1418710, + HGNC:9157, + HGNC_symbol:PNLIPRP2 ; biolink:category biolink:Gene . OMIM:604424 a owl:Class ; @@ -189185,7 +195344,6 @@ OMIM:604424 a owl:Class ; PMID:7693726, PMID:9373137, PMID:9748262 ; - oboInOwl:hasDbXref UMLS:C1415548 ; oboInOwl:hasExactSynonym "HIPK3", "dyrk6", "fas-interacting serine/threonine protein kinase", @@ -189193,7 +195351,9 @@ OMIM:604424 a owl:Class ; "pky" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10114 ; - skos:exactMatch HGNC_symbol:HIPK3 ; + skos:exactMatch UMLS:C1415548, + HGNC:4915, + HGNC_symbol:HIPK3 ; biolink:category biolink:Gene . OMIM:604425 a owl:Class ; @@ -189206,13 +195366,14 @@ OMIM:604425 a owl:Class ; PMID:8929991, PMID:9570771, PMID:9598319 ; - oboInOwl:hasDbXref UMLS:C1825812 ; oboInOwl:hasExactSynonym "LHX8", "lhx7", "lim homeobox gene 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:431707 ; - skos:exactMatch HGNC_symbol:LHX8 ; + skos:exactMatch UMLS:C1825812, + HGNC:28838, + HGNC_symbol:LHX8 ; biolink:category biolink:Gene . OMIM:604426 a owl:Class ; @@ -189221,7 +195382,6 @@ OMIM:604426 a owl:Class ; PMID:17341693, PMID:18250228, PMID:20555338 ; - oboInOwl:hasDbXref UMLS:C1413888 ; oboInOwl:hasExactSynonym "CYP4F2", "cytochrome p450, family 4, subfamily f, polypeptide 2", "cytochrome p450, subfamily ivf, polypeptide 2", @@ -189229,7 +195389,9 @@ OMIM:604426 a owl:Class ; "ltb4 omega-hydroxylase, liver" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8529 ; - skos:exactMatch HGNC_symbol:CYP4F2 ; + skos:exactMatch UMLS:C1413888, + HGNC:2645, + HGNC_symbol:CYP4F2 ; biolink:category biolink:Gene . OMIM:604427 a owl:Class ; @@ -189247,8 +195409,6 @@ OMIM:604427 a owl:Class ; PMID:9839820 ; RO:0002525 CHR:9606chr3p22.2 ; RO:0003303 OMIM:615551 ; - oboInOwl:hasDbXref UMLS:C1419853, - UMLS:C3809893 ; oboInOwl:hasExactSynonym "SCN10A", "nav1.8", "pn3", @@ -189257,7 +195417,10 @@ OMIM:604427 a owl:Class ; "sodium voltage-gated channel, alpha subunit 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6336 ; - skos:exactMatch HGNC_symbol:SCN10A ; + skos:exactMatch UMLS:C1419853, + UMLS:C3809893, + HGNC:10582, + HGNC_symbol:SCN10A ; biolink:category biolink:Gene . OMIM:604428 a owl:Class ; @@ -189268,13 +195431,14 @@ OMIM:604429 a owl:Class ; rdfs:label "PRRG2" ; IAO:0000142 PMID:17502622, PMID:9256434 ; - oboInOwl:hasDbXref UMLS:C1418962 ; oboInOwl:hasExactSynonym "PRRG2", "proline-rich gamma-carboxyglutamic acid protein 2", "proline-rich gla protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5639 ; - skos:exactMatch HGNC_symbol:PRRG2 ; + skos:exactMatch UMLS:C1418962, + HGNC:9470, + HGNC_symbol:PRRG2 ; biolink:category biolink:Gene . OMIM:604430 a owl:Class ; @@ -189283,19 +195447,20 @@ OMIM:604430 a owl:Class ; PMID:7606925, PMID:7665596, PMID:9600093 ; - oboInOwl:hasDbXref UMLS:C1415160 ; oboInOwl:hasExactSynonym "GNG7", "guanine nucleotide-binding protein, gamma-7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2788 ; - skos:exactMatch HGNC_symbol:GNG7 ; + skos:exactMatch UMLS:C1415160, + HGNC:4410, + HGNC_symbol:GNG7 ; biolink:category biolink:Gene . OMIM:604431 a owl:Class ; rdfs:label "polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive" ; IAO:0000142 PMID:9771672 ; - oboInOwl:hasDbXref UMLS:C1858353 ; oboInOwl:hasExactSynonym "polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive" ; + skos:exactMatch UMLS:C1858353 ; biolink:category biolink:Disease . OMIM:604433 a owl:Class ; @@ -189315,14 +195480,15 @@ OMIM:604433 a owl:Class ; PMID:22987075 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:613119 ; - oboInOwl:hasDbXref UMLS:C1416566 ; oboInOwl:hasExactSynonym "KCNE3", "minimum potassium ion channel-related peptide 2", "mink-related peptide 2", "potassium channel, voltage-gated, isk-related subfamily, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10008 ; - skos:exactMatch HGNC_symbol:KCNE3 ; + skos:exactMatch UMLS:C1416566, + HGNC:6243, + HGNC_symbol:KCNE3 ; biolink:category biolink:Gene . OMIM:604434 a owl:Class ; @@ -189331,7 +195497,6 @@ OMIM:604434 a owl:Class ; PMID:11054574, PMID:16829021, PMID:9765601 ; - oboInOwl:hasDbXref UMLS:C1416671 ; oboInOwl:hasExactSynonym "KLK11", "kallikrein 11", "kallikrein-related peptidase 11", @@ -189339,7 +195504,9 @@ OMIM:604434 a owl:Class ; "trypsin-like serine protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11012 ; - skos:exactMatch HGNC_symbol:KLK11 ; + skos:exactMatch UMLS:C1416671, + HGNC:6359, + HGNC_symbol:KLK11 ; biolink:category biolink:Gene . OMIM:604435 a owl:Class ; @@ -189352,20 +195519,20 @@ OMIM:604436 a owl:Class ; PMID:27912044 ; RO:0002525 CHR:9606chr8p11.23 ; RO:0003303 OMIM:617290 ; - oboInOwl:hasDbXref UMLS:C1418949 ; oboInOwl:hasExactSynonym "PLPBP", "proline synthetase cotranscribed, bacteria, homolog of", "pyridoxal phosphate-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11212 ; - skos:exactMatch HGNC_symbol:PLPBP ; + skos:exactMatch UMLS:C1418949, + HGNC:9457, + HGNC_symbol:PLPBP ; biolink:category biolink:Gene . OMIM:604437 a owl:Class ; rdfs:label "SLC38A3" ; IAO:0000142 PMID:10619430, PMID:11085536 ; - oboInOwl:hasDbXref UMLS:C1442750 ; oboInOwl:hasExactSynonym "SLC38A3", "g17", "n-system amino acid transporter 1", @@ -189373,7 +195540,9 @@ OMIM:604437 a owl:Class ; "transport system n, protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10991 ; - skos:exactMatch HGNC_symbol:SLC38A3 ; + skos:exactMatch UMLS:C1442750, + HGNC:18044, + HGNC_symbol:SLC38A3 ; biolink:category biolink:Gene . OMIM:604438 a owl:Class ; @@ -189383,7 +195552,6 @@ OMIM:604438 a owl:Class ; PMID:7510318, PMID:8034709, PMID:8393902 ; - oboInOwl:hasDbXref UMLS:C1416678 ; oboInOwl:hasExactSynonym "KLK7", "kallikrein 7", "kallikrein-related peptidase 7", @@ -189391,7 +195559,9 @@ OMIM:604438 a owl:Class ; "stratum corneum chymotryptic enzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5650 ; - skos:exactMatch HGNC_symbol:KLK7 ; + skos:exactMatch UMLS:C1416678, + HGNC:6368, + HGNC_symbol:KLK7 ; biolink:category biolink:Gene . OMIM:604439 a owl:Class ; @@ -189406,12 +195576,13 @@ OMIM:604439 a owl:Class ; PMID:9356464 ; RO:0002525 CHR:9606chr4q31.21 ; RO:0003303 OMIM:605428 ; - oboInOwl:hasDbXref UMLS:C1414900 ; oboInOwl:hasExactSynonym "GAB1", "grb2-associated binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2549 ; - skos:exactMatch HGNC_symbol:GAB1 ; + skos:exactMatch UMLS:C1414900, + HGNC:4066, + HGNC_symbol:GAB1 ; biolink:category biolink:Gene . OMIM:604440 a owl:Class ; @@ -189420,24 +195591,26 @@ OMIM:604440 a owl:Class ; PMID:18509062, PMID:22245780, PMID:9564035 ; - oboInOwl:hasDbXref UMLS:C1413421 ; oboInOwl:hasExactSynonym "CIDEA", "cell death-inducing dffa-like effector a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1149 ; - skos:exactMatch HGNC_symbol:CIDEA ; + skos:exactMatch UMLS:C1413421, + HGNC:1976, + HGNC_symbol:CIDEA ; biolink:category biolink:Gene . OMIM:604441 a owl:Class ; rdfs:label "CIDEB" ; IAO:0000142 PMID:10619428, PMID:9564035 ; - oboInOwl:hasDbXref UMLS:C1413422 ; oboInOwl:hasExactSynonym "CIDEB", "cell death-inducing dffa-like effector B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27141 ; - skos:exactMatch HGNC_symbol:CIDEB ; + skos:exactMatch UMLS:C1413422, + HGNC:1977, + HGNC_symbol:CIDEB ; biolink:category biolink:Gene . OMIM:604442 a owl:Class ; @@ -189453,8 +195626,6 @@ OMIM:604443 a owl:Class ; PMID:15655248, PMID:17762044 ; RO:0002525 CHR:9606chr5q31.1 ; - oboInOwl:hasDbXref UMLS:C1424328, - UMLS:C3274862 ; oboInOwl:hasExactSynonym "ACSL6", "acs2/etv6 fusion gene", "acyl-coa synthetase 2", @@ -189465,19 +195636,23 @@ OMIM:604443 a owl:Class ; "long chain acyl-coa synthetase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23305 ; - skos:exactMatch HGNC_symbol:ACSL6 ; + skos:exactMatch UMLS:C1424328, + UMLS:C3274862, + HGNC:16496, + HGNC_symbol:ACSL6 ; biolink:category biolink:Gene . OMIM:604444 a owl:Class ; rdfs:label "BAMBI" ; IAO:0000142 PMID:8621228 ; - oboInOwl:hasDbXref UMLS:C1428947 ; oboInOwl:hasExactSynonym "BAMBI", "bmp and activin membrane-bound inhibitor", "bmp and activin membrane-bound inhibitor, xenopus, homolog of neuromedin a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25805 ; - skos:exactMatch HGNC_symbol:BAMBI ; + skos:exactMatch UMLS:C1428947, + HGNC:30251, + HGNC_symbol:BAMBI ; biolink:category biolink:Gene . OMIM:604445 a owl:Class ; @@ -189486,7 +195661,6 @@ OMIM:604445 a owl:Class ; PMID:10527881, PMID:11004515, PMID:9297979 ; - oboInOwl:hasDbXref UMLS:C1418547 ; oboInOwl:hasExactSynonym "PI13", "headpin", "hurpin", @@ -189494,7 +195668,9 @@ OMIM:604445 a owl:Class ; "serine protease inhibitor, clade b, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5275 ; - skos:exactMatch HGNC_symbol:SERPINB13 ; + skos:exactMatch UMLS:C1418547, + HGNC:8944, + HGNC_symbol:SERPINB13 ; biolink:category biolink:Gene . OMIM:604446 a owl:Class ; @@ -189502,12 +195678,13 @@ OMIM:604446 a owl:Class ; IAO:0000142 PMID:8654936, PMID:9237666, PMID:9925913 ; - oboInOwl:hasDbXref UMLS:C1419058 ; oboInOwl:hasExactSynonym "PTER", "phosphotriesterase-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9317 ; - skos:exactMatch HGNC_symbol:PTER ; + skos:exactMatch UMLS:C1419058, + HGNC:9590, + HGNC_symbol:PTER ; biolink:category biolink:Gene . OMIM:604447 a owl:Class ; @@ -189525,13 +195702,14 @@ OMIM:604447 a owl:Class ; PMID:9606987 ; RO:0002525 CHR:9606chr15q21.2 ; RO:0003303 OMIM:617182 ; - oboInOwl:hasDbXref UMLS:C1415152 ; oboInOwl:hasExactSynonym "GNB5", "gb5", "guanine nucleotide-binding protein, beta-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10681 ; - skos:exactMatch HGNC_symbol:GNB5 ; + skos:exactMatch UMLS:C1415152, + HGNC:4401, + HGNC_symbol:GNB5 ; biolink:category biolink:Gene . OMIM:604448 a owl:Class ; @@ -189539,7 +195717,6 @@ OMIM:604448 a owl:Class ; IAO:0000142 PMID:10343115, PMID:11867758, PMID:8241278 ; - oboInOwl:hasDbXref UMLS:C1418983 ; oboInOwl:hasExactSynonym "CYTIP", "cyth1-interacting protein", "cytohesin 1-interacting protein", @@ -189548,7 +195725,9 @@ OMIM:604448 a owl:Class ; "pleckstrin homology, sec7, and coiled-coil domains protein-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9595 ; - skos:exactMatch HGNC_symbol:CYTIP ; + skos:exactMatch UMLS:C1418983, + HGNC:9506, + HGNC_symbol:CYTIP ; biolink:category biolink:Gene . OMIM:604449 a owl:Class ; @@ -189556,14 +195735,15 @@ OMIM:604449 a owl:Class ; IAO:0000142 PMID:22972301, PMID:9119060, PMID:9426256 ; - oboInOwl:hasDbXref UMLS:C1419029 ; oboInOwl:hasExactSynonym "PSMD11", "p44.5", "protease 26s, subunit 9", "proteasome 26s subunit, non-atpase, 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5717 ; - skos:exactMatch HGNC_symbol:PSMD11 ; + skos:exactMatch UMLS:C1419029, + HGNC:9556, + HGNC_symbol:PSMD11 ; biolink:category biolink:Gene . OMIM:604450 a owl:Class ; @@ -189572,14 +195752,15 @@ OMIM:604450 a owl:Class ; PMID:9426256 ; RO:0002525 CHR:9606chr17q24.2 ; RO:0003303 OMIM:617516 ; - oboInOwl:hasDbXref UMLS:C1419030 ; oboInOwl:hasExactSynonym "PSMD12", "p55", "proteasome 26s subunit, non-atpase, 12", "rpn5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5718 ; - skos:exactMatch HGNC_symbol:PSMD12 ; + skos:exactMatch UMLS:C1419030, + HGNC:9557, + HGNC_symbol:PSMD12 ; biolink:category biolink:Gene . OMIM:604451 a owl:Class ; @@ -189587,22 +195768,23 @@ OMIM:604451 a owl:Class ; IAO:0000142 PMID:10522671, PMID:1430363, PMID:2235986 ; - oboInOwl:hasDbXref UMLS:C1304297 ; oboInOwl:hasExactSynonym "basal cell carcinoma with follicular differentiation", - "basal cell carcinoma, infundibulocystic" . + "basal cell carcinoma, infundibulocystic" ; + skos:exactMatch UMLS:C1304297 . OMIM:604452 a owl:Class ; rdfs:label "PSMD5" ; IAO:0000142 PMID:7559544, PMID:7584044, PMID:8125911 ; - oboInOwl:hasDbXref UMLS:C1419036 ; oboInOwl:hasExactSynonym "PSMD5", "protease 26s, subunit 5b", "proteasome 26s subunit, non-atpase, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5711 ; - skos:exactMatch HGNC_symbol:PSMD5 ; + skos:exactMatch UMLS:C1419036, + HGNC:9563, + HGNC_symbol:PSMD5 ; biolink:category biolink:Gene . OMIM:604455 a owl:Class ; @@ -189613,13 +195795,14 @@ OMIM:604455 a owl:Class ; PMID:8812433 ; RO:0002525 CHR:9606chr9q34.2 ; RO:0003303 OMIM:268900 ; - oboInOwl:hasDbXref UMLS:C1419817 ; oboInOwl:hasExactSynonym "SARDH", "sarcosine dehydrogenase", "sdh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1757 ; - skos:exactMatch HGNC_symbol:SARDH ; + skos:exactMatch UMLS:C1419817, + HGNC:10536, + HGNC_symbol:SARDH ; biolink:category biolink:Gene . OMIM:604456 a owl:Class ; @@ -189631,7 +195814,6 @@ OMIM:604456 a owl:Class ; PMID:2492664, PMID:31296770, PMID:7559564 ; - oboInOwl:hasDbXref UMLS:C1334078 ; oboInOwl:hasExactSynonym "IFITM1", "cd225", "interferon-induced protein 17", @@ -189639,7 +195821,9 @@ OMIM:604456 a owl:Class ; "leu13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8519 ; - skos:exactMatch HGNC_symbol:IFITM1 ; + skos:exactMatch UMLS:C1334078, + HGNC:5412, + HGNC_symbol:IFITM1 ; biolink:category biolink:Gene . OMIM:604458 a owl:Class ; @@ -189656,14 +195840,15 @@ OMIM:604459 a owl:Class ; PMID:30617222 ; RO:0002525 CHR:9606chr12q14.3 ; RO:0003303 OMIM:611064 ; - oboInOwl:hasDbXref UMLS:C1334136, - UMLS:C4016888 ; oboInOwl:hasExactSynonym "IRAK3", "interleukin 1 receptor-associated kinase 3", "interleukin 1 receptor-associated kinase m" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11213 ; - skos:exactMatch HGNC_symbol:IRAK3 ; + skos:exactMatch UMLS:C1334136, + UMLS:C4016888, + HGNC:17020, + HGNC_symbol:IRAK3 ; biolink:category biolink:Gene . OMIM:604460 a owl:Class ; @@ -189671,24 +195856,26 @@ OMIM:604460 a owl:Class ; IAO:0000142 PMID:10462485, PMID:21295280, PMID:23307929 ; - oboInOwl:hasDbXref UMLS:C1414524 ; oboInOwl:hasExactSynonym "FAF1", "fas-associated factor 1", "hfaf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11124 ; - skos:exactMatch HGNC_symbol:FAF1 ; + skos:exactMatch UMLS:C1414524, + HGNC:3578, + HGNC_symbol:FAF1 ; biolink:category biolink:Gene . OMIM:604461 a owl:Class ; rdfs:label "HPV6AI1" ; IAO:0000142 PMID:8118820 ; - oboInOwl:hasDbXref UMLS:C1415710 ; oboInOwl:hasExactSynonym "HPV6AI1", "human papillomavirus iia 6a integration site 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3259 ; - skos:exactMatch HGNC_symbol:HPV6AI1 ; + skos:exactMatch UMLS:C1415710, + HGNC:5168, + HGNC_symbol:HPV6AI1 ; biolink:category biolink:Gene . OMIM:604462 a owl:Class ; @@ -189698,14 +195885,15 @@ OMIM:604462 a owl:Class ; PMID:21122816, PMID:7656991, PMID:9464278 ; - oboInOwl:hasDbXref UMLS:C1419949 ; oboInOwl:hasExactSynonym "SEMA4C", "kiaa1739", "semaphorin 4c", "semaphorin f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54910 ; - skos:exactMatch HGNC_symbol:SEMA4C ; + skos:exactMatch UMLS:C1419949, + HGNC:10731, + HGNC_symbol:SEMA4C ; biolink:category biolink:Gene . OMIM:604463 a owl:Class ; @@ -189713,20 +195901,20 @@ OMIM:604463 a owl:Class ; IAO:0000142 PMID:7688788, PMID:9743336, PMID:9973372 ; - oboInOwl:hasDbXref UMLS:C1424685 ; oboInOwl:hasExactSynonym "CD160", "cd160 antigen", "natural killer cell receptor by55" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11126 ; - skos:exactMatch HGNC_symbol:CD160 ; + skos:exactMatch UMLS:C1424685, + HGNC:17013, + HGNC_symbol:CD160 ; biolink:category biolink:Gene . OMIM:604464 a owl:Class ; rdfs:label "ITSN2" ; IAO:0000142 PMID:10922467, PMID:9630982 ; - oboInOwl:hasDbXref UMLS:C1416521 ; oboInOwl:hasExactSynonym "ITSN2", "intersectin 2", "kiaa1256", @@ -189734,7 +195922,9 @@ OMIM:604464 a owl:Class ; "swa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50618 ; - skos:exactMatch HGNC_symbol:ITSN2 ; + skos:exactMatch UMLS:C1416521, + HGNC:6184, + HGNC_symbol:ITSN2 ; biolink:category biolink:Gene . OMIM:604465 a owl:Class ; @@ -189745,7 +195935,6 @@ OMIM:604465 a owl:Class ; PMID:16319893, PMID:20064468, PMID:9169142 ; - oboInOwl:hasDbXref UMLS:C1420026 ; oboInOwl:hasExactSynonym "SH3GL2", "endophilin 1", "endophilin a1", @@ -189753,83 +195942,91 @@ OMIM:604465 a owl:Class ; "sh3p4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6456 ; - skos:exactMatch HGNC_symbol:SH3GL2 ; + skos:exactMatch UMLS:C1420026, + HGNC:10831, + HGNC_symbol:SH3GL2 ; biolink:category biolink:Gene . OMIM:604466 a owl:Class ; rdfs:label "METTL1" ; IAO:0000142 PMID:10329009 ; - oboInOwl:hasDbXref UMLS:C1417124 ; oboInOwl:hasExactSynonym "METTL1", "methyltransferase 1, trna methylguanosine", "methyltransferase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4234 ; - skos:exactMatch HGNC_symbol:METTL1 ; + skos:exactMatch UMLS:C1417124, + HGNC:7030, + HGNC_symbol:METTL1 ; biolink:category biolink:Gene . OMIM:604467 a owl:Class ; rdfs:label "MMD" ; IAO:0000142 PMID:16044242, PMID:7503749 ; - oboInOwl:hasDbXref UMLS:C1417198 ; oboInOwl:hasExactSynonym "MMD", "mmd1", "monocyte-to-macrophage differentiation-associated protein", "progestin and adipoq receptor family, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23531 ; - skos:exactMatch HGNC_symbol:MMD ; + skos:exactMatch UMLS:C1417198, + HGNC:7153, + HGNC_symbol:MMD ; biolink:category biolink:Gene . OMIM:604468 a owl:Class ; rdfs:label "MAP3K6" ; IAO:0000142 PMID:9875215 ; - oboInOwl:hasDbXref UMLS:C1417015 ; oboInOwl:hasExactSynonym "MAP3K6", "apoptosis signal-regulating kinase 2", "mapkkk6", "mitogen-activated protein kinase kinase kinase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9064 ; - skos:exactMatch HGNC_symbol:MAP3K6 ; + skos:exactMatch UMLS:C1417015, + HGNC:6858, + HGNC_symbol:MAP3K6 ; biolink:category biolink:Gene . OMIM:604469 a owl:Class ; rdfs:label "EXOC5" ; IAO:0000142 PMID:9119050 ; - oboInOwl:hasDbXref UMLS:C1825078 ; oboInOwl:hasExactSynonym "EXOC5", "exocyst complex component 5", "sec10, s. cerevisiae, homolog of", "sec10-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10640 ; - skos:exactMatch HGNC_symbol:EXOC5 ; + skos:exactMatch UMLS:C1825078, + HGNC:10696, + HGNC_symbol:EXOC5 ; biolink:category biolink:Gene . OMIM:604470 a owl:Class ; rdfs:label "CD2BP2" ; IAO:0000142 PMID:9843987 ; - oboInOwl:hasDbXref UMLS:C1413217 ; oboInOwl:hasExactSynonym "CD2BP2", "cd2 antigen-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10421 ; - skos:exactMatch HGNC_symbol:CD2BP2 ; + skos:exactMatch UMLS:C1413217, + HGNC:1656, + HGNC_symbol:CD2BP2 ; biolink:category biolink:Gene . OMIM:604471 a owl:Class ; rdfs:label "SLC1A7" ; IAO:0000142 PMID:9108121 ; - oboInOwl:hasDbXref UMLS:C1420125 ; oboInOwl:hasExactSynonym "SLC1A7", "excitatory amino acid transporter 5", "glutamate transporter, retina", "solute carrier family 1 (glutamate transporter), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6512 ; - skos:exactMatch HGNC_symbol:SLC1A7 ; + skos:exactMatch UMLS:C1420125, + HGNC:10945, + HGNC_symbol:SLC1A7 ; biolink:category biolink:Gene . OMIM:604472 a owl:Class ; @@ -189845,14 +196042,15 @@ OMIM:604472 a owl:Class ; PMID:16239971, PMID:18618015, PMID:9743536 ; - oboInOwl:hasDbXref UMLS:C1420815 ; oboInOwl:hasExactSynonym "TNFSF13", "april", "tnf- and apol-related leukocyte expressed ligand 2", "tumor necrosis factor ligand superfamily, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8741 ; - skos:exactMatch HGNC_symbol:TNFSF13 ; + skos:exactMatch UMLS:C1420815, + HGNC:11928, + HGNC_symbol:TNFSF13 ; biolink:category biolink:Gene . OMIM:604473 a owl:Class ; @@ -189884,9 +196082,6 @@ OMIM:604473 a owl:Class ; PMID:9582347 ; RO:0002525 CHR:9606chr6q24.3 ; RO:0003303 OMIM:614831 ; - oboInOwl:hasDbXref UMLS:C1333711, - UMLS:C3553816, - UMLS:C4521563 ; oboInOwl:hasExactSynonym "GRM1", "glutamate receptor, metabotropic, 1", "grm1-alpha", @@ -189894,7 +196089,11 @@ OMIM:604473 a owl:Class ; "mglur1-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2911 ; - skos:exactMatch HGNC_symbol:GRM1 ; + skos:exactMatch UMLS:C1333711, + UMLS:C3553816, + UMLS:C4521563, + HGNC:4593, + HGNC_symbol:GRM1 ; biolink:category biolink:Gene . OMIM:604474 a owl:Class ; @@ -189902,8 +196101,8 @@ OMIM:604474 a owl:Class ; IAO:0000142 PMID:10477678, PMID:2876520, PMID:9242553 ; - oboInOwl:hasDbXref UMLS:C1858340 ; - oboInOwl:hasExactSynonym "human herpesvirus iia 6, integrated" . + oboInOwl:hasExactSynonym "human herpesvirus iia 6, integrated" ; + skos:exactMatch UMLS:C1858340 . OMIM:604475 a owl:Class ; rdfs:label "RTN4" ; @@ -189930,7 +196129,6 @@ OMIM:604475 a owl:Class ; PMID:18988857, PMID:20437585, PMID:9668118 ; - oboInOwl:hasDbXref UMLS:C1366527 ; oboInOwl:hasExactSynonym "RTN4", "neurite growth inhibitor 220", "neurite outgrowth inhibitor", @@ -189941,7 +196139,9 @@ OMIM:604475 a owl:Class ; "reticulon 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57142 ; - skos:exactMatch HGNC_symbol:RTN4 ; + skos:exactMatch UMLS:C1366527, + HGNC:14085, + HGNC_symbol:RTN4 ; biolink:category biolink:Gene . OMIM:604476 a owl:Class ; @@ -189954,7 +196154,6 @@ OMIM:604477 a owl:Class ; PMID:16222246, PMID:17470536, PMID:8663349 ; - oboInOwl:hasDbXref UMLS:C1413158 ; oboInOwl:hasExactSynonym "CBX3", "chromobox 3", "chromobox homolog 3", @@ -189962,7 +196161,9 @@ OMIM:604477 a owl:Class ; "hp1-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11335 ; - skos:exactMatch HGNC_symbol:CBX3 ; + skos:exactMatch UMLS:C1413158, + HGNC:1553, + HGNC_symbol:CBX3 ; biolink:category biolink:Gene . OMIM:604478 a owl:Class ; @@ -189988,7 +196189,6 @@ OMIM:604478 a owl:Class ; PMID:30765536, PMID:8505380, PMID:8663349 ; - oboInOwl:hasDbXref UMLS:C1413160 ; oboInOwl:hasExactSynonym "CBX5", "chromobox 5", "chromobox homolog 5", @@ -189997,7 +196197,9 @@ OMIM:604478 a owl:Class ; "hp1-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23468 ; - skos:exactMatch HGNC_symbol:CBX5 ; + skos:exactMatch UMLS:C1413160, + HGNC:1555, + HGNC_symbol:CBX5 ; biolink:category biolink:Gene . OMIM:604479 a owl:Class ; @@ -190066,7 +196268,6 @@ OMIM:604479 a owl:Class ; PMID:24145446, PMID:24903973, PMID:6098447 ; - oboInOwl:hasDbXref UMLS:C1423062 ; oboInOwl:hasExactSynonym "SIRT1", "hst2, s. cerevisiae, homolog of", "sir2, s. cerevisiae, homolog-like 1", @@ -190074,7 +196275,9 @@ OMIM:604479 a owl:Class ; "sirtuin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23411 ; - skos:exactMatch HGNC_symbol:SIRT1 ; + skos:exactMatch UMLS:C1423062, + HGNC:14929, + HGNC_symbol:SIRT1 ; biolink:category biolink:Gene . OMIM:604480 a owl:Class ; @@ -190092,14 +196295,15 @@ OMIM:604480 a owl:Class ; PMID:23201684, PMID:24203696, PMID:6098447 ; - oboInOwl:hasDbXref UMLS:C1420071 ; oboInOwl:hasExactSynonym "SIRT2", "sir2, s. cerevisiae, homolog-like 2", "sir2l", "sirtuin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22933 ; - skos:exactMatch HGNC_symbol:SIRT2 ; + skos:exactMatch UMLS:C1420071, + HGNC:10886, + HGNC_symbol:SIRT2 ; biolink:category biolink:Gene . OMIM:604481 a owl:Class ; @@ -190115,13 +196319,14 @@ OMIM:604481 a owl:Class ; PMID:20203611, PMID:21094524, PMID:6098447 ; - oboInOwl:hasDbXref UMLS:C1423063 ; oboInOwl:hasExactSynonym "SIRT3", "sir2, s. cerevisiae, homolog-like 3", "sirtuin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23410 ; - skos:exactMatch HGNC_symbol:SIRT3 ; + skos:exactMatch UMLS:C1423063, + HGNC:14931, + HGNC_symbol:SIRT3 ; biolink:category biolink:Gene . OMIM:604482 a owl:Class ; @@ -190132,13 +196337,14 @@ OMIM:604482 a owl:Class ; PMID:16959573, PMID:25525879, PMID:6098447 ; - oboInOwl:hasDbXref UMLS:C1423064 ; oboInOwl:hasExactSynonym "SIRT4", "sir2-like 4", "sirtuin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23409 ; - skos:exactMatch HGNC_symbol:SIRT4 ; + skos:exactMatch UMLS:C1423064, + HGNC:14932, + HGNC_symbol:SIRT4 ; biolink:category biolink:Gene . OMIM:604483 a owl:Class ; @@ -190148,13 +196354,14 @@ OMIM:604483 a owl:Class ; PMID:17923681, PMID:22076378, PMID:6098447 ; - oboInOwl:hasDbXref UMLS:C1423065 ; oboInOwl:hasExactSynonym "SIRT5", "sir2, s. cerevisiae, homolog-like 5", "sirtuin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23408 ; - skos:exactMatch HGNC_symbol:SIRT5 ; + skos:exactMatch UMLS:C1423065, + HGNC:14933, + HGNC_symbol:SIRT5 ; biolink:category biolink:Gene . OMIM:604485 a owl:Class ; @@ -190174,13 +196381,14 @@ OMIM:604485 a owl:Class ; PMID:2481314 ; RO:0002525 CHR:9606chr15q23 ; RO:0003303 OMIM:611131 ; - oboInOwl:hasDbXref UMLS:C1417832 ; oboInOwl:hasExactSynonym "NR2E3", "nuclear receptor subfamily 2, group e, member 3", "photoreceptor-specific nuclear receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10002 ; - skos:exactMatch HGNC_symbol:NR2E3 ; + skos:exactMatch UMLS:C1417832, + HGNC:7974, + HGNC_symbol:NR2E3 ; biolink:category biolink:Gene . OMIM:604486 a owl:Class ; @@ -190192,14 +196400,15 @@ OMIM:604486 a owl:Class ; PMID:18345011, PMID:18806802, PMID:9784132 ; - oboInOwl:hasDbXref UMLS:C1418799 ; oboInOwl:hasExactSynonym "PPIF", "cyclophilin 3", "cyclophilin f", "peptidyl-prolyl cis/trans isomerase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10105 ; - skos:exactMatch HGNC_symbol:PPIF ; + skos:exactMatch UMLS:C1418799, + HGNC:9259, + HGNC_symbol:PPIF ; biolink:category biolink:Gene . OMIM:604487 a owl:Class ; @@ -190211,13 +196420,14 @@ OMIM:604487 a owl:Class ; PMID:9405633 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:614945 ; - oboInOwl:hasDbXref UMLS:C1418196 ; oboInOwl:hasExactSynonym "OTOG", "otgn", "otogelin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340990 ; - skos:exactMatch HGNC_symbol:OTOG ; + skos:exactMatch UMLS:C1418196, + HGNC:8516, + HGNC_symbol:OTOG ; biolink:category biolink:Gene . OMIM:604488 a owl:Class ; @@ -190234,13 +196444,14 @@ OMIM:604488 a owl:Class ; PMID:9350988 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:601954 ; - oboInOwl:hasDbXref UMLS:C1420621 ; oboInOwl:hasExactSynonym "TCAP", "telethonin", "titin-cap" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8557 ; - skos:exactMatch HGNC_symbol:TCAP ; + skos:exactMatch UMLS:C1420621, + HGNC:11610, + HGNC_symbol:TCAP ; biolink:category biolink:Gene . OMIM:604489 a owl:Class ; @@ -190258,12 +196469,13 @@ OMIM:604489 a owl:Class ; PMID:9584266 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:214950 ; - oboInOwl:hasDbXref UMLS:C1412374 ; oboInOwl:hasExactSynonym "AMACR", "alpha-methylacyl-coa racemase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23600 ; - skos:exactMatch HGNC_symbol:AMACR ; + skos:exactMatch UMLS:C1412374, + HGNC:451, + HGNC_symbol:AMACR ; biolink:category biolink:Gene . OMIM:604490 a owl:Class ; @@ -190281,12 +196493,13 @@ OMIM:604490 a owl:Class ; PMID:23280630 ; RO:0002525 CHR:9606chr13q12.12 ; RO:0003303 OMIM:270550 ; - oboInOwl:hasDbXref UMLS:C1419804 ; oboInOwl:hasExactSynonym "SACS", "sacsin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26278 ; - skos:exactMatch HGNC_symbol:SACS ; + skos:exactMatch UMLS:C1419804, + HGNC:10519, + HGNC_symbol:SACS ; biolink:category biolink:Gene . OMIM:604491 a owl:Class ; @@ -190302,24 +196515,26 @@ OMIM:604491 a owl:Class ; PMID:24553136, PMID:25261476, PMID:7784085 ; - oboInOwl:hasDbXref UMLS:C1332672 ; oboInOwl:hasExactSynonym "CBLB", "cas-br-m murine ecotropic retroviral transforming sequence B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:868 ; - skos:exactMatch HGNC_symbol:CBLB ; + skos:exactMatch UMLS:C1332672, + HGNC:1542, + HGNC_symbol:CBLB ; biolink:category biolink:Gene . OMIM:604493 a owl:Class ; rdfs:label "GJB5" ; IAO:0000142 PMID:9843209 ; - oboInOwl:hasDbXref UMLS:C1415080 ; oboInOwl:hasExactSynonym "GJB5", "connexin 31.1", "gap junction protein, beta-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2709 ; - skos:exactMatch HGNC_symbol:GJB5 ; + skos:exactMatch UMLS:C1415080, + HGNC:4287, + HGNC_symbol:GJB5 ; biolink:category biolink:Gene . OMIM:604494 a owl:Class ; @@ -190330,14 +196545,15 @@ OMIM:604494 a owl:Class ; PMID:26638073, PMID:8626725, PMID:9325300 ; - oboInOwl:hasDbXref UMLS:C1416393 ; oboInOwl:hasExactSynonym "IL18R1", "il1 receptor-related protein", "interleukin 18 receptor 1", "interleukin 18 receptor, alpha chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8809 ; - skos:exactMatch HGNC_symbol:IL18R1 ; + skos:exactMatch UMLS:C1416393, + HGNC:5988, + HGNC_symbol:IL18R1 ; biolink:category biolink:Gene . OMIM:604495 a owl:Class ; @@ -190348,7 +196564,6 @@ OMIM:604495 a owl:Class ; PMID:20740013, PMID:7776974, PMID:9763672 ; - oboInOwl:hasDbXref UMLS:C1417709 ; oboInOwl:hasExactSynonym "NFKBIB", "i-kappa-b-beta", "inhibitor of kappa light chain gene enhancer 1n B cells, beta", @@ -190358,13 +196573,14 @@ OMIM:604495 a owl:Class ; "thyroid hormone receptor interactor 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4793 ; - skos:exactMatch HGNC_symbol:NFKBIB ; + skos:exactMatch UMLS:C1417709, + HGNC:7798, + HGNC_symbol:NFKBIB ; biolink:category biolink:Gene . OMIM:604496 a owl:Class ; rdfs:label "NKIRAS1" ; IAO:0000142 PMID:10657303 ; - oboInOwl:hasDbXref UMLS:C1425160 ; oboInOwl:hasExactSynonym "NKIRAS1", "i-kappa-b-interacting ras-like protein 1", "kappa-b-ras1", @@ -190372,13 +196588,14 @@ OMIM:604496 a owl:Class ; "nfkb inhibitor-interacting ras-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28512 ; - skos:exactMatch HGNC_symbol:NKIRAS1 ; + skos:exactMatch UMLS:C1425160, + HGNC:17899, + HGNC_symbol:NKIRAS1 ; biolink:category biolink:Gene . OMIM:604497 a owl:Class ; rdfs:label "NKIRAS2" ; IAO:0000142 PMID:10657303 ; - oboInOwl:hasDbXref UMLS:C1425159 ; oboInOwl:hasExactSynonym "NKIRAS2", "i-kappa-b-interacting ras-like protein 2", "kappa-b-ras2", @@ -190386,7 +196603,9 @@ OMIM:604497 a owl:Class ; "nfkb inhibitor-interacting ras-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28511 ; - skos:exactMatch HGNC_symbol:NKIRAS2 ; + skos:exactMatch UMLS:C1425159, + HGNC:17898, + HGNC_symbol:NKIRAS2 ; biolink:category biolink:Gene . OMIM:604500 a owl:Class ; @@ -190395,14 +196614,15 @@ OMIM:604500 a owl:Class ; PMID:7776974 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:260565 ; - oboInOwl:hasDbXref UMLS:C1824077 ; oboInOwl:hasExactSynonym "ZNHIT3", "hit-type zinc finger domain-containing protein 3", "thyroid hormone receptor interactor 3", "zinc finger hit domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9326 ; - skos:exactMatch HGNC_symbol:ZNHIT3 ; + skos:exactMatch UMLS:C1824077, + HGNC:12309, + HGNC_symbol:ZNHIT3 ; biolink:category biolink:Gene . OMIM:604501 a owl:Class ; @@ -190415,13 +196635,14 @@ OMIM:604501 a owl:Class ; PMID:7776974 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:616866 ; - oboInOwl:hasDbXref UMLS:C1421150 ; oboInOwl:hasExactSynonym "TRIP4", "activating signal cointegrator 1", "thyroid hormone receptor interactor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9325 ; - skos:exactMatch HGNC_symbol:TRIP4 ; + skos:exactMatch UMLS:C1421150, + HGNC:12310, + HGNC_symbol:TRIP4 ; biolink:category biolink:Gene . OMIM:604502 a owl:Class ; @@ -190429,13 +196650,14 @@ OMIM:604502 a owl:Class ; IAO:0000142 PMID:11356838, PMID:15082770, PMID:7776974 ; - oboInOwl:hasDbXref UMLS:C1333914 ; oboInOwl:hasExactSynonym "HMGN3", "high mobility group nucleosomal binding protein 3", "thyroid hormone receptor interactor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9324 ; - skos:exactMatch HGNC_symbol:HMGN3 ; + skos:exactMatch UMLS:C1333914, + HGNC:12312, + HGNC_symbol:HMGN3 ; biolink:category biolink:Gene . OMIM:604503 a owl:Class ; @@ -190446,14 +196668,15 @@ OMIM:604503 a owl:Class ; PMID:24896186, PMID:26181491, PMID:7776974 ; - oboInOwl:hasDbXref UMLS:C1421152 ; oboInOwl:hasExactSynonym "JMJD1C", "jumonji domain-containing protein 1c", "kiaa1380", "thyroid hormone receptor interactor 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221037 ; - skos:exactMatch HGNC_symbol:JMJD1C ; + skos:exactMatch UMLS:C1421152, + HGNC:12313, + HGNC_symbol:JMJD1C ; biolink:category biolink:Gene . OMIM:604504 a owl:Class ; @@ -190464,13 +196687,14 @@ OMIM:604504 a owl:Class ; PMID:19920150, PMID:7776974, PMID:9210375 ; - oboInOwl:hasDbXref UMLS:C1336675 ; oboInOwl:hasExactSynonym "TRIP10", "cdc42-interacting protein 4", "thyroid hormone receptor interactor 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9322 ; - skos:exactMatch HGNC_symbol:TRIP10 ; + skos:exactMatch UMLS:C1336675, + HGNC:12304, + HGNC_symbol:TRIP10 ; biolink:category biolink:Gene . OMIM:604505 a owl:Class ; @@ -190489,8 +196713,6 @@ OMIM:604505 a owl:Class ; PMID:9373237 ; RO:0002525 CHR:9606chr14q32.12 ; RO:0003303 OMIM:184260 ; - oboInOwl:hasDbXref UMLS:C1421146, - UMLS:C1858307 ; oboInOwl:hasExactSynonym "TRIP11", "cev14/pdgfrb fusion gene", "clonal evolution-related gene on chromosome 14", @@ -190500,7 +196722,10 @@ OMIM:604505 a owl:Class ; "trip, 230-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9321 ; - skos:exactMatch HGNC_symbol:TRIP11 ; + skos:exactMatch UMLS:C1421146, + UMLS:C1858307, + HGNC:12305, + HGNC_symbol:TRIP11 ; biolink:category biolink:Gene . OMIM:604506 a owl:Class ; @@ -190516,14 +196741,15 @@ OMIM:604506 a owl:Class ; PMID:7776974 ; RO:0002525 CHR:9606chr2q36.3 ; RO:0003303 OMIM:617752 ; - oboInOwl:hasDbXref UMLS:C1421147, - UMLS:C2931130 ; oboInOwl:hasExactSynonym "TRIP12", "thyroid hormone receptor interactor 12", "ubiquitin ligase for arf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9320 ; - skos:exactMatch HGNC_symbol:TRIP12 ; + skos:exactMatch UMLS:C1421147, + UMLS:C2931130, + HGNC:12306, + HGNC_symbol:TRIP12 ; biolink:category biolink:Gene . OMIM:604507 a owl:Class ; @@ -190536,15 +196762,16 @@ OMIM:604507 a owl:Class ; PMID:9223484 ; RO:0002525 CHR:9606chr5p15.33 ; RO:0003303 OMIM:619011 ; - oboInOwl:hasDbXref UMLS:C1421148, - UMLS:C4539839, - UMLS:C5436599 ; oboInOwl:hasExactSynonym "TRIP13", "human papillomavirus iia 16 e1 protein-binding protein", "thyroid hormone receptor interactor 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9319 ; - skos:exactMatch HGNC_symbol:TRIP13 ; + skos:exactMatch UMLS:C1421148, + UMLS:C4539839, + UMLS:C5436599, + HGNC:12307, + HGNC_symbol:TRIP13 ; biolink:category biolink:Gene . OMIM:604508 a owl:Class ; @@ -190555,7 +196782,6 @@ OMIM:604508 a owl:Class ; PMID:26976604, PMID:7776974, PMID:9535219 ; - oboInOwl:hasDbXref UMLS:C1539124 ; oboInOwl:hasExactSynonym "COPS2", "alien, drosophila, homolog of", "cop9 signalosome, subunit 2", @@ -190564,32 +196790,36 @@ OMIM:604508 a owl:Class ; "thyroid hormone receptor interactor 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9318 ; - skos:exactMatch HGNC_symbol:COPS2 ; + skos:exactMatch UMLS:C1539124, + HGNC:30747, + HGNC_symbol:COPS2 ; biolink:category biolink:Gene . OMIM:604509 a owl:Class ; rdfs:label "IL18RAP" ; IAO:0000142 PMID:19103669, PMID:9792649 ; - oboInOwl:hasDbXref UMLS:C1416394 ; oboInOwl:hasExactSynonym "IL18RAP", "accessory protein-like", "interleukin 18 receptor accessory protein", "interleukin 18 receptor, beta chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8807 ; - skos:exactMatch HGNC_symbol:IL18RAP ; + skos:exactMatch UMLS:C1416394, + HGNC:5989, + HGNC_symbol:IL18RAP ; biolink:category biolink:Gene . OMIM:604510 a owl:Class ; rdfs:label "HYAL4" ; IAO:0000142 PMID:10493834 ; - oboInOwl:hasDbXref UMLS:C1415828 ; oboInOwl:hasExactSynonym "HYAL4", "hyaluronoglucosaminidase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23553 ; - skos:exactMatch HGNC_symbol:HYAL4 ; + skos:exactMatch UMLS:C1415828, + HGNC:5323, + HGNC_symbol:HYAL4 ; biolink:category biolink:Gene . OMIM:604511 a owl:Class ; @@ -190605,7 +196835,6 @@ OMIM:604511 a owl:Class ; PMID:17470536, PMID:18438399, PMID:9169582 ; - oboInOwl:hasDbXref UMLS:C1413156 ; oboInOwl:hasExactSynonym "CBX1", "cbx", "chromobox 1", @@ -190614,7 +196843,9 @@ OMIM:604511 a owl:Class ; "hp1-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10951 ; - skos:exactMatch HGNC_symbol:CBX1 ; + skos:exactMatch UMLS:C1413156, + HGNC:1551, + HGNC_symbol:CBX1 ; biolink:category biolink:Gene . OMIM:604512 a owl:Class ; @@ -190622,14 +196853,15 @@ OMIM:604512 a owl:Class ; IAO:0000142 PMID:10191101, PMID:26590314, PMID:8898719 ; - oboInOwl:hasDbXref UMLS:C1416401 ; oboInOwl:hasExactSynonym "IL1RL2", "il1rrp2", "interleukin 1 receptor-like 2", "interleukin 36 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8808 ; - skos:exactMatch HGNC_symbol:IL1RL2 ; + skos:exactMatch UMLS:C1416401, + HGNC:5999, + HGNC_symbol:IL1RL2 ; biolink:category biolink:Gene . OMIM:604513 a owl:Class ; @@ -190639,13 +196871,14 @@ OMIM:604513 a owl:Class ; PMID:17563375, PMID:7797269, PMID:9310491 ; - oboInOwl:hasDbXref UMLS:C1413242 ; oboInOwl:hasExactSynonym "CD84", "cd84 antigen", "slam family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8832 ; - skos:exactMatch HGNC_symbol:CD84 ; + skos:exactMatch UMLS:C1413242, + HGNC:1704, + HGNC_symbol:CD84 ; biolink:category biolink:Gene . OMIM:604514 a owl:Class ; @@ -190653,13 +196886,14 @@ OMIM:604514 a owl:Class ; IAO:0000142 PMID:12953096, PMID:16446380, PMID:9468509 ; - oboInOwl:hasDbXref UMLS:C1420018 ; oboInOwl:hasExactSynonym "SH2D2A", "sh2 domain protein 2a", "t-cell sh2 domain-containing adaptor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9047 ; - skos:exactMatch HGNC_symbol:SH2D2A ; + skos:exactMatch UMLS:C1420018, + HGNC:10821, + HGNC_symbol:SH2D2A ; biolink:category biolink:Gene . OMIM:604515 a owl:Class ; @@ -190677,27 +196911,29 @@ OMIM:604515 a owl:Class ; PMID:9705962 ; RO:0002525 CHR:9606chr10q24.1 ; RO:0003303 OMIM:613502 ; - oboInOwl:hasDbXref UMLS:C1332420 ; oboInOwl:hasExactSynonym "B cell-specific adaptor protein", "BLNK", "b-cell linker protein", "sh2 domain-containing leukocyte protein, 65-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29760 ; - skos:exactMatch HGNC_symbol:BLNK ; + skos:exactMatch UMLS:C1332420, + HGNC:14211, + HGNC_symbol:BLNK ; biolink:category biolink:Gene . OMIM:604516 a owl:Class ; rdfs:label "IGSF2" ; IAO:0000142 PMID:7722300 ; - oboInOwl:hasDbXref UMLS:C1416371 ; oboInOwl:hasExactSynonym "IGSF2", "cd101", "immunoglobulin superfamily, member 2", "v7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9398 ; - skos:exactMatch HGNC_symbol:CD101 ; + skos:exactMatch UMLS:C1416371, + HGNC:5949, + HGNC_symbol:CD101 ; biolink:category biolink:Gene . OMIM:604517 a owl:Class ; @@ -190750,7 +196986,6 @@ OMIM:604517 a owl:Class ; PMID:26982719, PMID:27580028, PMID:9529258 ; - oboInOwl:hasDbXref UMLS:C1418779 ; oboInOwl:hasExactSynonym "PPARGC1A", "peroxisome proliferator-activated receptor-gamma, coactivator 1", "peroxisome proliferator-activated receptor-gamma, coactivator 1, alpha", @@ -190759,7 +196994,9 @@ OMIM:604517 a owl:Class ; "ppar-gamma coactivator 1-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10891 ; - skos:exactMatch HGNC_symbol:PPARGC1A ; + skos:exactMatch UMLS:C1418779, + HGNC:9237, + HGNC_symbol:PPARGC1A ; biolink:category biolink:Gene . OMIM:604518 a owl:Class ; @@ -190767,7 +197004,6 @@ OMIM:604518 a owl:Class ; IAO:0000142 PMID:10820259, PMID:11239162, PMID:9878555 ; - oboInOwl:hasDbXref UMLS:C1415284 ; oboInOwl:hasExactSynonym "GRAP2", "gads", "grb2-related adaptor protein 2", @@ -190775,7 +197011,9 @@ OMIM:604518 a owl:Class ; "growth factor receptor-bound protein 2-related adaptor protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9402 ; - skos:exactMatch HGNC_symbol:GRAP2 ; + skos:exactMatch UMLS:C1415284, + HGNC:4563, + HGNC_symbol:GRAP2 ; biolink:category biolink:Gene . OMIM:604520 a owl:Class ; @@ -190790,14 +197028,15 @@ OMIM:604520 a owl:Class ; PMID:26026056, PMID:9462508, PMID:9765287 ; - oboInOwl:hasDbXref UMLS:C1420817 ; oboInOwl:hasExactSynonym "TNFSF14", "herpesvirus entry mediator ligand", "light", "tumor necrosis factor ligand superfamily, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8740 ; - skos:exactMatch HGNC_symbol:TNFSF14 ; + skos:exactMatch UMLS:C1420817, + HGNC:11930, + HGNC_symbol:TNFSF14 ; biolink:category biolink:Gene . OMIM:604521 a owl:Class ; @@ -190808,14 +197047,15 @@ OMIM:604521 a owl:Class ; PMID:7514594 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:617660 ; - oboInOwl:hasDbXref UMLS:C1415456 ; oboInOwl:hasExactSynonym "3-hao", "3-hydroxyanthranilate 3,4-dioxygenase", "3-hydroxyanthranilic acid dioxygenase", "HAAO" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23498 ; - skos:exactMatch HGNC_symbol:HAAO ; + skos:exactMatch UMLS:C1415456, + HGNC:4796, + HGNC_symbol:HAAO ; biolink:category biolink:Gene . OMIM:604522 a owl:Class ; @@ -190829,14 +197069,15 @@ OMIM:604522 a owl:Class ; PMID:2431484, PMID:8525373, PMID:8530462 ; - oboInOwl:hasDbXref UMLS:C1413974 ; oboInOwl:hasExactSynonym "DEFA3", "def3", "defensin, alpha, 3", "human neutrophil peptide 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1668 ; - skos:exactMatch HGNC_symbol:DEFA3 ; + skos:exactMatch UMLS:C1413974, + HGNC:2762, + HGNC_symbol:DEFA3 ; biolink:category biolink:Gene . OMIM:604523 a owl:Class ; @@ -190852,13 +197093,14 @@ OMIM:604523 a owl:Class ; PMID:9858697 ; RO:0002525 CHR:9606chr22q13.31 ; RO:0003303 OMIM:619319 ; - oboInOwl:hasDbXref UMLS:C1332751 ; oboInOwl:hasExactSynonym "CELSR1", "cadherin egf lag seven-pass g-type receptor 1", "flamingo, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9620 ; - skos:exactMatch HGNC_symbol:CELSR1 ; + skos:exactMatch UMLS:C1332751, + HGNC:1850, + HGNC_symbol:CELSR1 ; biolink:category biolink:Gene . OMIM:604524 a owl:Class ; @@ -190867,7 +197109,6 @@ OMIM:604524 a owl:Class ; PMID:7753172, PMID:9553150, PMID:9862343 ; - oboInOwl:hasDbXref UMLS:C1416939 ; oboInOwl:hasExactSynonym "LY75", "cd205", "clec13b", @@ -190876,7 +197117,9 @@ OMIM:604524 a owl:Class ; "lymphocyte antigen 75" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4065 ; - skos:exactMatch HGNC_symbol:LY75 ; + skos:exactMatch UMLS:C1416939, + HGNC:6729, + HGNC_symbol:LY75 ; biolink:category biolink:Gene . OMIM:604525 a owl:Class ; @@ -190884,13 +197127,14 @@ OMIM:604525 a owl:Class ; IAO:0000142 PMID:10347254, PMID:11130725, PMID:9311023 ; - oboInOwl:hasDbXref UMLS:C1439353 ; oboInOwl:hasExactSynonym "HRH3", "g protein-coupled receptor 97", "histamine receptor h3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11255 ; - skos:exactMatch HGNC_symbol:HRH3 ; + skos:exactMatch UMLS:C1439353, + HGNC:5184, + HGNC_symbol:HRH3 ; biolink:category biolink:Gene . OMIM:604526 a owl:Class ; @@ -190900,54 +197144,58 @@ OMIM:604526 a owl:Class ; PMID:31736247 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:612572 ; - oboInOwl:hasDbXref UMLS:C1415879, - UMLS:C2675496 ; oboInOwl:hasExactSynonym "IDH3B", "isocitrate dehydrogenase 3, beta subunit", "isocitrate dehydrogenase, nad(+)-specific, mitochondrial, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3420 ; - skos:exactMatch HGNC_symbol:IDH3B ; + skos:exactMatch UMLS:C1415879, + UMLS:C2675496, + HGNC:5385, + HGNC_symbol:IDH3B ; biolink:category biolink:Gene . OMIM:604527 a owl:Class ; rdfs:label "KCNH3" ; IAO:0000142 PMID:10455180, PMID:8640222 ; - oboInOwl:hasDbXref UMLS:C1416573 ; oboInOwl:hasExactSynonym "KCNH3", "brain-specific eag-like channel 1", "potassium channel, voltage-gated, ether-a-go-go-related subfamily, member 3", "potassium channel, voltage-gated, subfamily h, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23416 ; - skos:exactMatch HGNC_symbol:KCNH3 ; + skos:exactMatch UMLS:C1416573, + HGNC:6252, + HGNC_symbol:KCNH3 ; biolink:category biolink:Gene . OMIM:604528 a owl:Class ; rdfs:label "KCNH4" ; IAO:0000142 PMID:10455180 ; - oboInOwl:hasDbXref UMLS:C1416574 ; oboInOwl:hasExactSynonym "KCNH4", "brain-specific eag-like channel 2", "potassium channel, voltage-gated, ether-a-go-go-related subfamily, member 4", "potassium channel, voltage-gated, subfamily h, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23415 ; - skos:exactMatch HGNC_symbol:KCNH4 ; + skos:exactMatch UMLS:C1416574, + HGNC:6253, + HGNC_symbol:KCNH4 ; biolink:category biolink:Gene . OMIM:604529 a owl:Class ; rdfs:label "OTP" ; IAO:0000142 PMID:10458915, PMID:10557207 ; - oboInOwl:hasDbXref UMLS:C1418198 ; oboInOwl:hasExactSynonym "OTP", "orthopedia homeobox", "orthopedia, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23440 ; - skos:exactMatch HGNC_symbol:OTP ; + skos:exactMatch UMLS:C1418198, + HGNC:8518, + HGNC_symbol:OTP ; biolink:category biolink:Gene . OMIM:604530 a owl:Class ; @@ -190957,14 +197205,15 @@ OMIM:604530 a owl:Class ; PMID:22267813, PMID:9314561, PMID:9730896 ; - oboInOwl:hasDbXref UMLS:C1416941 ; oboInOwl:hasExactSynonym "NCR1", "activating natural killer receptor p46", "lymphocyte antigen 94, mouse, homolog of", "natural cytotoxicity triggering receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9437 ; - skos:exactMatch HGNC_symbol:NCR1 ; + skos:exactMatch UMLS:C1416941, + HGNC:6731, + HGNC_symbol:NCR1 ; biolink:category biolink:Gene . OMIM:604531 a owl:Class ; @@ -190972,14 +197221,15 @@ OMIM:604531 a owl:Class ; IAO:0000142 PMID:10049942, PMID:12645956, PMID:23791642 ; - oboInOwl:hasDbXref UMLS:C1416942 ; oboInOwl:hasExactSynonym "NCR2", "activating nk receptor nkp44", "lymphocyte antigen 95, mouse, homolog of", "natural cytotoxicity triggering receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9436 ; - skos:exactMatch HGNC_symbol:NCR2 ; + skos:exactMatch UMLS:C1416942, + HGNC:6732, + HGNC_symbol:NCR2 ; biolink:category biolink:Gene . OMIM:604532 a owl:Class ; @@ -190992,7 +197242,6 @@ OMIM:604532 a owl:Class ; PMID:24336289, PMID:9748274, PMID:9878261 ; - oboInOwl:hasDbXref UMLS:C1418601 ; oboInOwl:hasExactSynonym "PKD2L1", "pkd2l", "pkdl", @@ -191000,7 +197249,9 @@ OMIM:604532 a owl:Class ; "polycystin-l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9033 ; - skos:exactMatch HGNC_symbol:PKD2L1 ; + skos:exactMatch UMLS:C1418601, + HGNC:9011, + HGNC_symbol:PKD2L1 ; biolink:category biolink:Gene . OMIM:604533 a owl:Class ; @@ -191008,14 +197259,15 @@ OMIM:604533 a owl:Class ; IAO:0000142 PMID:9235947, PMID:9569007, PMID:9605874 ; - oboInOwl:hasDbXref UMLS:C1416478 ; oboInOwl:hasExactSynonym "ISG20", "hem45", "interferon-stimulated exonuclease gene 20", "interferon-stimulated gene, 20-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3669 ; - skos:exactMatch HGNC_symbol:ISG20 ; + skos:exactMatch UMLS:C1416478, + HGNC:6130, + HGNC_symbol:ISG20 ; biolink:category biolink:Gene . OMIM:604534 a owl:Class ; @@ -191028,14 +197280,15 @@ OMIM:604534 a owl:Class ; PMID:8422464, PMID:9417921, PMID:9799334 ; - oboInOwl:hasDbXref UMLS:C1413241 ; oboInOwl:hasExactSynonym "CD83", "bl11", "cd83 antigen", "hb15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9308 ; - skos:exactMatch HGNC_symbol:CD83 ; + skos:exactMatch UMLS:C1413241, + HGNC:1703, + HGNC_symbol:CD83 ; biolink:category biolink:Gene . OMIM:604535 a owl:Class ; @@ -191044,12 +197297,13 @@ OMIM:604535 a owl:Class ; PMID:19041755, PMID:9245909, PMID:9782090 ; - oboInOwl:hasDbXref UMLS:C1416641 ; oboInOwl:hasExactSynonym "KIFC3", "kinesin family member c3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3801 ; - skos:exactMatch HGNC_symbol:KIFC3 ; + skos:exactMatch UMLS:C1416641, + HGNC:6326, + HGNC_symbol:KIFC3 ; biolink:category biolink:Gene . OMIM:604538 a owl:Class ; @@ -191061,14 +197315,15 @@ OMIM:604538 a owl:Class ; PMID:17538014, PMID:21820309, PMID:9434124 ; - oboInOwl:hasDbXref UMLS:C1416698 ; oboInOwl:hasExactSynonym "KIF2C", "kinesin family member 2c", "kinesin-like 6", "mitotic centromere-associated kinesin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11004 ; - skos:exactMatch HGNC_symbol:KIF2C ; + skos:exactMatch UMLS:C1416698, + HGNC:6393, + HGNC_symbol:KIF2C ; biolink:category biolink:Gene . OMIM:604539 a owl:Class ; @@ -191080,13 +197335,14 @@ OMIM:604539 a owl:Class ; PMID:26765342 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:225410 ; - oboInOwl:hasDbXref UMLS:C1412208 ; oboInOwl:hasExactSynonym "ADAMTS2", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 2", "procollagen 1 n-proteinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9509 ; - skos:exactMatch HGNC_symbol:ADAMTS2 ; + skos:exactMatch UMLS:C1412208, + HGNC:218, + HGNC_symbol:ADAMTS2 ; biolink:category biolink:Gene . OMIM:604540 a owl:Class ; @@ -191094,7 +197350,6 @@ OMIM:604540 a owl:Class ; IAO:0000142 PMID:10391933, PMID:2458293, PMID:9756910 ; - oboInOwl:hasDbXref UMLS:C1825752 ; oboInOwl:hasExactSynonym "KRT36", "k36", "ka31", @@ -191103,14 +197358,15 @@ OMIM:604540 a owl:Class ; "keratin, hard, iia i, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8689 ; - skos:exactMatch HGNC_symbol:KRT36 ; + skos:exactMatch UMLS:C1825752, + HGNC:6454, + HGNC_symbol:KRT36 ; biolink:category biolink:Gene . OMIM:604541 a owl:Class ; rdfs:label "KRT37" ; IAO:0000142 PMID:10391933, PMID:9756910 ; - oboInOwl:hasDbXref UMLS:C1825753 ; oboInOwl:hasExactSynonym "KRT37", "k37", "ka32", @@ -191119,14 +197375,15 @@ OMIM:604541 a owl:Class ; "keratin, hard, iia i, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8688 ; - skos:exactMatch HGNC_symbol:KRT37 ; + skos:exactMatch UMLS:C1825753, + HGNC:6455, + HGNC_symbol:KRT37 ; biolink:category biolink:Gene . OMIM:604542 a owl:Class ; rdfs:label "KRT38" ; IAO:0000142 PMID:10391933, PMID:9756910 ; - oboInOwl:hasDbXref UMLS:C1825754 ; oboInOwl:hasExactSynonym "KRT38", "k38", "ka33", @@ -191135,7 +197392,9 @@ OMIM:604542 a owl:Class ; "keratin, hard, iia i, 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8687 ; - skos:exactMatch HGNC_symbol:KRT38 ; + skos:exactMatch UMLS:C1825754, + HGNC:6456, + HGNC_symbol:KRT38 ; biolink:category biolink:Gene . OMIM:604543 a owl:Class ; @@ -191143,12 +197402,13 @@ OMIM:604543 a owl:Class ; IAO:0000142 PMID:10647888, PMID:15542589, PMID:9408748 ; - oboInOwl:hasDbXref UMLS:C1334341 ; oboInOwl:hasExactSynonym "LIMD1", "lim domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8994 ; - skos:exactMatch HGNC_symbol:LIMD1 ; + skos:exactMatch UMLS:C1334341, + HGNC:6612, + HGNC_symbol:LIMD1 ; biolink:category biolink:Gene . OMIM:604544 a owl:Class ; @@ -191166,27 +197426,29 @@ OMIM:604544 a owl:Class ; PMID:9408748 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:615300 ; - oboInOwl:hasDbXref UMLS:C1424741 ; oboInOwl:hasExactSynonym "LARS2", "leucyl-trna synthetase 2", "leucyl-trna synthetase, mitochondrial", "mitochondrial leurs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23395 ; - skos:exactMatch HGNC_symbol:LARS2 ; + skos:exactMatch UMLS:C1424741, + HGNC:17095, + HGNC_symbol:LARS2 ; biolink:category biolink:Gene . OMIM:604545 a owl:Class ; rdfs:label "KPNA5" ; IAO:0000142 PMID:25121748, PMID:9395085 ; - oboInOwl:hasDbXref UMLS:C1416703 ; oboInOwl:hasExactSynonym "KPNA5", "importin alpha-6", "karyopherin alpha-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3841 ; - skos:exactMatch HGNC_symbol:KPNA5 ; + skos:exactMatch UMLS:C1416703, + HGNC:6398, + HGNC_symbol:KPNA5 ; biolink:category biolink:Gene . OMIM:604546 a owl:Class ; @@ -191204,14 +197466,15 @@ OMIM:604546 a owl:Class ; PMID:7738005 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:271510 ; - oboInOwl:hasDbXref UMLS:C1417712 ; oboInOwl:hasExactSynonym "TONSL", "i-kappa-b-related", "nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor-like 2", "tonsoku-like DNA repair protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4796 ; - skos:exactMatch HGNC_symbol:TONSL ; + skos:exactMatch UMLS:C1417712, + HGNC:7801, + HGNC_symbol:TONSL ; biolink:category biolink:Gene . OMIM:604548 a owl:Class ; @@ -191220,7 +197483,6 @@ OMIM:604548 a owl:Class ; PMID:12424381, PMID:9135156, PMID:9315679 ; - oboInOwl:hasDbXref UMLS:C1417710 ; oboInOwl:hasExactSynonym "NFKBIE", "inhibitor of kappa light chain gene enhancer 1n B cells, epsilon", "nfkb inhibitor, epsilon", @@ -191228,7 +197490,9 @@ OMIM:604548 a owl:Class ; "nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor, epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4794 ; - skos:exactMatch HGNC_symbol:NFKBIE ; + skos:exactMatch UMLS:C1417710, + HGNC:7799, + HGNC_symbol:NFKBIE ; biolink:category biolink:Gene . OMIM:604549 a owl:Class ; @@ -191239,13 +197503,14 @@ OMIM:604550 a owl:Class ; rdfs:label "DENR" ; IAO:0000142 PMID:25043021, PMID:9628587 ; - oboInOwl:hasDbXref UMLS:C1413979 ; oboInOwl:hasExactSynonym "DENR", "density-regulated protein", "drp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8562 ; - skos:exactMatch HGNC_symbol:DENR ; + skos:exactMatch UMLS:C1413979, + HGNC:2769, + HGNC_symbol:DENR ; biolink:category biolink:Gene . OMIM:604551 a owl:Class ; @@ -191255,12 +197520,13 @@ OMIM:604551 a owl:Class ; PMID:25104388, PMID:30728500, PMID:9852097 ; - oboInOwl:hasDbXref UMLS:C1413371 ; oboInOwl:hasExactSynonym "CH25H", "cholesterol 25-hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9023 ; - skos:exactMatch HGNC_symbol:CH25H ; + skos:exactMatch UMLS:C1413371, + HGNC:1907, + HGNC_symbol:CH25H ; biolink:category biolink:Gene . OMIM:604552 a owl:Class ; @@ -191269,24 +197535,26 @@ OMIM:604552 a owl:Class ; PMID:7683665, PMID:8226803, PMID:9874200 ; - oboInOwl:hasDbXref UMLS:C1415534 ; oboInOwl:hasExactSynonym "HGFAC", "hepatocyte growth factor activator", "hgf activator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3083 ; - skos:exactMatch HGNC_symbol:HGFAC ; + skos:exactMatch UMLS:C1415534, + HGNC:4894, + HGNC_symbol:HGFAC ; biolink:category biolink:Gene . OMIM:604553 a owl:Class ; rdfs:label "HSBP1" ; IAO:0000142 PMID:9649501 ; - oboInOwl:hasDbXref UMLS:C1415735 ; oboInOwl:hasExactSynonym "HSBP1", "heat-shock factor-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3281 ; - skos:exactMatch HGNC_symbol:HSBP1 ; + skos:exactMatch UMLS:C1415735, + HGNC:5203, + HGNC_symbol:HSBP1 ; biolink:category biolink:Gene . OMIM:604554 a owl:Class ; @@ -191294,26 +197562,28 @@ OMIM:604554 a owl:Class ; IAO:0000142 PMID:9651507 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:619245 ; - oboInOwl:hasDbXref UMLS:C1415751 ; oboInOwl:hasExactSynonym "HSF2BP", "heat-shock transcription factor 2-binding protein", "meiotic localizer of brca2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11077 ; - skos:exactMatch HGNC_symbol:HSF2BP ; + skos:exactMatch UMLS:C1415751, + HGNC:5226, + HGNC_symbol:HSF2BP ; biolink:category biolink:Gene . OMIM:604555 a owl:Class ; rdfs:label "CDH10" ; IAO:0000142 PMID:10386616, PMID:2059658 ; - oboInOwl:hasDbXref UMLS:C1413268 ; oboInOwl:hasExactSynonym "CDH10", "cadherin 10", "t2-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1008 ; - skos:exactMatch HGNC_symbol:CDH10 ; + skos:exactMatch UMLS:C1413268, + HGNC:1749, + HGNC_symbol:CDH10 ; biolink:category biolink:Gene . OMIM:604556 a owl:Class ; @@ -191326,13 +197596,14 @@ OMIM:604556 a owl:Class ; PMID:9918863 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:615812 ; - oboInOwl:hasDbXref UMLS:C1414205 ; oboInOwl:hasExactSynonym "DYRK1B", "dual-specificity tyrosine phosphorylation-regulated kinase 1b", "minibrain-related kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9149 ; - skos:exactMatch HGNC_symbol:DYRK1B ; + skos:exactMatch UMLS:C1414205, + HGNC:3092, + HGNC_symbol:DYRK1B ; biolink:category biolink:Gene . OMIM:604557 a owl:Class ; @@ -191347,7 +197618,6 @@ OMIM:604557 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr16q12.1 ; RO:0003303 OMIM:614844 ; - oboInOwl:hasDbXref UMLS:C1424525 ; oboInOwl:hasExactSynonym "ZNF423", "kiaa0760", "olf1/ebf-associated zinc finger protein", @@ -191355,7 +197625,9 @@ OMIM:604557 a owl:Class ; "zinc finger protein 423, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23090 ; - skos:exactMatch HGNC_symbol:ZNF423 ; + skos:exactMatch UMLS:C1424525, + HGNC:16762, + HGNC_symbol:ZNF423 ; biolink:category biolink:Gene . OMIM:604558 a owl:Class ; @@ -191380,14 +197652,15 @@ OMIM:604558 a owl:Class ; PMID:9930702 ; RO:0002525 CHR:9606chr2q33.2 ; RO:0003303 OMIM:607594 ; - oboInOwl:hasDbXref UMLS:C1415846 ; oboInOwl:hasExactSynonym "ICOS", "activation-inducible lymphocyte immunomediatory molecule", "inducible costimulator", "inducible t-cell costimulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29851 ; - skos:exactMatch HGNC_symbol:ICOS ; + skos:exactMatch UMLS:C1415846, + HGNC:5351, + HGNC_symbol:ICOS ; biolink:category biolink:Gene . OMIM:604560 a owl:Class ; @@ -191397,52 +197670,56 @@ OMIM:604560 a owl:Class ; OMIM:604561 a owl:Class ; rdfs:label "MGAT4B" ; IAO:0000142 PMID:10372966 ; - oboInOwl:hasDbXref UMLS:C1417137 ; oboInOwl:hasExactSynonym "MGAT4B", "alpha-1,3-mannosyl-glycoprotein beta-1,4-n-acetylglucosaminyltransferase, isozyme B", "gnt-ivb", "udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase, isozyme B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11282 ; - skos:exactMatch HGNC_symbol:MGAT4B ; + skos:exactMatch UMLS:C1417137, + HGNC:7048, + HGNC_symbol:MGAT4B ; biolink:category biolink:Gene . OMIM:604562 a owl:Class ; rdfs:label "ACIN1" ; IAO:0000142 PMID:10490026, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1442495 ; oboInOwl:hasExactSynonym "ACIN1", "apoptotic chromatin condensation inducer 1", "apoptotic chromatin condensation inducer 1n the nucleus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22985 ; - skos:exactMatch HGNC_symbol:ACIN1 ; + skos:exactMatch UMLS:C1442495, + HGNC:17066, + HGNC_symbol:ACIN1 ; biolink:category biolink:Gene . OMIM:604564 a owl:Class ; rdfs:label "MGST3" ; IAO:0000142 PMID:12898215, PMID:9278457 ; - oboInOwl:hasDbXref UMLS:C1417147 ; oboInOwl:hasExactSynonym "MGST3", "glutathione s-transferase, microsomal, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4259 ; - skos:exactMatch HGNC_symbol:MGST3 ; + skos:exactMatch UMLS:C1417147, + HGNC:7064, + HGNC_symbol:MGST3 ; biolink:category biolink:Gene . OMIM:604565 a owl:Class ; rdfs:label "ALG5" ; IAO:0000142 PMID:10359825 ; - oboInOwl:hasDbXref UMLS:C1426822 ; oboInOwl:hasExactSynonym "ALG5", "alg5 dolichyl-phosphate beta-glucosyltransferase", "alg5, s. cerevisiae, homolog of", "dolichyl phosphate glucosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29880 ; - skos:exactMatch HGNC_symbol:ALG5 ; + skos:exactMatch UMLS:C1426822, + HGNC:20266, + HGNC_symbol:ALG5 ; biolink:category biolink:Gene . OMIM:604566 a owl:Class ; @@ -191459,38 +197736,41 @@ OMIM:604566 a owl:Class ; PMID:9710431 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:603147 ; - oboInOwl:hasDbXref UMLS:C1427953, - UMLS:C2930997, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "ALG6", "alg6 alpha-1,3-glucosyltransferase", "alg6, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29929 ; - skos:exactMatch HGNC_symbol:ALG6 ; + skos:exactMatch UMLS:C1427953, + UMLS:C2930997, + UMLS:C4015968, + HGNC:23157, + HGNC_symbol:ALG6 ; biolink:category biolink:Gene . OMIM:604567 a owl:Class ; rdfs:label "DOC2A" ; IAO:0000142 PMID:7826360 ; - oboInOwl:hasDbXref UMLS:C1414126 ; oboInOwl:hasExactSynonym "DOC2A", "double c2-like domain-containing protein, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8448 ; - skos:exactMatch HGNC_symbol:DOC2A ; + skos:exactMatch UMLS:C1414126, + HGNC:2985, + HGNC_symbol:DOC2A ; biolink:category biolink:Gene . OMIM:604568 a owl:Class ; rdfs:label "DOC2B" ; IAO:0000142 PMID:20150444, PMID:8554557 ; - oboInOwl:hasDbXref UMLS:C1414127 ; oboInOwl:hasExactSynonym "DOC2B", "double c2-like domain-containing protein, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8447 ; - skos:exactMatch HGNC_symbol:DOC2B ; + skos:exactMatch UMLS:C1414127, + HGNC:2986, + HGNC_symbol:DOC2B ; biolink:category biolink:Gene . OMIM:604569 a owl:Class ; @@ -191514,17 +197794,18 @@ OMIM:604569 a owl:Class ; PMID:29429934 ; RO:0002525 CHR:9606chr7q35-q36.1 ; RO:0003303 OMIM:612100 ; - oboInOwl:hasDbXref UMLS:C1422223, - UMLS:C2677504, - UMLS:C2750246, - UMLS:C4552043 ; oboInOwl:hasExactSynonym "CNTNAP2", "contactin-associated protein 2", "contactin-associated protein-like 2", "neurexin iv, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26047 ; - skos:exactMatch HGNC_symbol:CNTNAP2 ; + skos:exactMatch UMLS:C1422223, + UMLS:C2677504, + UMLS:C2750246, + UMLS:C4552043, + HGNC:13830, + HGNC_symbol:CNTNAP2 ; biolink:category biolink:Gene . OMIM:604570 a owl:Class ; @@ -191534,14 +197815,15 @@ OMIM:604570 a owl:Class ; PMID:16249236, PMID:17329357, PMID:25805808 ; - oboInOwl:hasDbXref UMLS:C1822721 ; oboInOwl:hasExactSynonym "SHROOM3", "kiaa1481", "shroom family member 3", "shroom, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57619 ; - skos:exactMatch HGNC_symbol:SHROOM3 ; + skos:exactMatch UMLS:C1822721, + HGNC:30422, + HGNC_symbol:SHROOM3 ; biolink:category biolink:Gene . OMIM:604572 a owl:Class ; @@ -191553,8 +197835,6 @@ OMIM:604572 a owl:Class ; PMID:8250930, PMID:8975727, PMID:9545528 ; - oboInOwl:hasDbXref UMLS:C1415791, - UMLS:C3807366 ; oboInOwl:hasExactSynonym "DNAJB1", "dnaj/hsp40 homolog, subfamily b, member 1", "dnajb1/prkaca fusion gene", @@ -191562,21 +197842,25 @@ OMIM:604572 a owl:Class ; "heat-shock 40-kd protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3337 ; - skos:exactMatch HGNC_symbol:DNAJB1 ; + skos:exactMatch UMLS:C1415791, + UMLS:C3807366, + HGNC:5270, + HGNC_symbol:DNAJB1 ; biolink:category biolink:Gene . OMIM:604573 a owl:Class ; rdfs:label "ATP5MPL" ; IAO:0000142 PMID:17575325, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1412885 ; oboInOwl:hasExactSynonym "ATP5MPL", "atp synthase membrane subunit 6.8pl", "chromosome 14 open reading frame 2", "mp68, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9556 ; - skos:exactMatch HGNC_symbol:ATP5MJ ; + skos:exactMatch UMLS:C1412885, + HGNC:1188, + HGNC_symbol:ATP5MJ ; biolink:category biolink:Gene . OMIM:604574 a owl:Class ; @@ -191588,15 +197872,16 @@ OMIM:604574 a owl:Class ; PMID:30692144 ; RO:0002525 CHR:9606chr9q31.3 ; RO:0003303 OMIM:616981 ; - oboInOwl:hasDbXref UMLS:C1413032, - UMLS:C4310770 ; oboInOwl:hasExactSynonym "FRRS1L", "cg6", "chromosome 9 open reading frame 4", "ferric chelate reductase 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23732 ; - skos:exactMatch HGNC_symbol:FRRS1L ; + skos:exactMatch UMLS:C1413032, + UMLS:C4310770, + HGNC:1362, + HGNC_symbol:FRRS1L ; biolink:category biolink:Gene . OMIM:604575 a owl:Class ; @@ -191604,7 +197889,6 @@ OMIM:604575 a owl:Class ; IAO:0000142 PMID:10602999, PMID:9286704, PMID:9615229 ; - oboInOwl:hasDbXref UMLS:C1538248 ; oboInOwl:hasExactSynonym "ZNHIT2", "chromosome 11 open reading frame 5", "fon", @@ -191612,19 +197896,22 @@ OMIM:604575 a owl:Class ; "zinc finger hit domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:741 ; - skos:exactMatch HGNC_symbol:ZNHIT2 ; + skos:exactMatch UMLS:C1538248, + HGNC:1177, + HGNC_symbol:ZNHIT2 ; biolink:category biolink:Gene . OMIM:604576 a owl:Class ; rdfs:label "ERG28" ; IAO:0000142 PMID:10449901 ; - oboInOwl:hasDbXref UMLS:C1412884 ; oboInOwl:hasExactSynonym "ERG28", "chromosome 14 open reading frame 1", "ergosterol biosynthesis 28 homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11161 ; - skos:exactMatch HGNC_symbol:ERG28 ; + skos:exactMatch UMLS:C1412884, + HGNC:1187, + HGNC_symbol:ERG28 ; biolink:category biolink:Gene . OMIM:604577 a owl:Class ; @@ -191639,7 +197926,6 @@ OMIM:604577 a owl:Class ; PMID:31119192 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:616812 ; - oboInOwl:hasDbXref UMLS:C1412856 ; oboInOwl:hasExactSynonym "BVES", "blood vessel epicardial substance", "hbves", @@ -191647,7 +197933,9 @@ OMIM:604577 a owl:Class ; "popeye protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11149 ; - skos:exactMatch HGNC_symbol:BVES ; + skos:exactMatch UMLS:C1412856, + HGNC:1152, + HGNC_symbol:BVES ; biolink:category biolink:Gene . OMIM:604578 a owl:Class ; @@ -191661,12 +197949,13 @@ OMIM:604578 a owl:Class ; PMID:29255077, PMID:32350463, PMID:9242382 ; - oboInOwl:hasDbXref UMLS:C1332065 ; oboInOwl:hasExactSynonym "AIM2", "absent 1n melanoma 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9447 ; - skos:exactMatch HGNC_symbol:AIM2 ; + skos:exactMatch UMLS:C1332065, + HGNC:357, + HGNC_symbol:AIM2 ; biolink:category biolink:Gene . OMIM:604579 a owl:Class ; @@ -191686,13 +197975,14 @@ OMIM:604579 a owl:Class ; PMID:30135577 ; RO:0002525 CHR:9606chr11q14.2 ; RO:0003303 OMIM:133780 ; - oboInOwl:hasDbXref UMLS:C1333586 ; oboInOwl:hasExactSynonym "FZD4", "frizzled class receptor 4", "frizzled, drosophila, homolog of, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8322 ; - skos:exactMatch HGNC_symbol:FZD4 ; + skos:exactMatch UMLS:C1333586, + HGNC:4042, + HGNC_symbol:FZD4 ; biolink:category biolink:Gene . OMIM:604580 a owl:Class ; @@ -191715,13 +198005,14 @@ OMIM:604580 a owl:Class ; PMID:3232707 ; RO:0002525 CHR:9606chr14q32.12 ; RO:0003303 OMIM:608895 ; - oboInOwl:hasDbXref UMLS:C1414541 ; oboInOwl:hasExactSynonym "FBLN5", "developmental arteries and neural crest egf-like", "fibulin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10516 ; - skos:exactMatch HGNC_symbol:FBLN5 ; + skos:exactMatch UMLS:C1414541, + HGNC:3602, + HGNC_symbol:FBLN5 ; biolink:category biolink:Gene . OMIM:604581 a owl:Class ; @@ -191741,16 +198032,17 @@ OMIM:604581 a owl:Class ; PMID:32600459 ; RO:0002525 CHR:9606chr18p11.21 ; RO:0003303 OMIM:610246 ; - oboInOwl:hasDbXref UMLS:C1412274, - UMLS:C1853249, - UMLS:C3280977, - UMLS:C5436534 ; oboInOwl:hasExactSynonym "AFG3L2", "afg3-like matrix aaa peptidase, subunit 2", "atpase family gene 3-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10939 ; - skos:exactMatch HGNC_symbol:AFG3L2 ; + skos:exactMatch UMLS:C1412274, + UMLS:C1853249, + UMLS:C3280977, + UMLS:C5436534, + HGNC:315, + HGNC_symbol:AFG3L2 ; biolink:category biolink:Gene . OMIM:604582 a owl:Class ; @@ -191760,8 +198052,6 @@ OMIM:604582 a owl:Class ; PMID:26989089, PMID:28838314, PMID:9497389 ; - oboInOwl:hasDbXref UMLS:C1412314, - UMLS:C1423768 ; oboInOwl:hasExactSynonym "AKAP2", "a-kinase anchor protein 2", "akapkl", @@ -191770,20 +198060,24 @@ OMIM:604582 a owl:Class ; "paralemmin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:445815 ; - skos:exactMatch HGNC_symbol:PALM2AKAP2 ; + skos:exactMatch UMLS:C1412314, + UMLS:C1423768, + HGNC:33529, + HGNC_symbol:PALM2AKAP2 ; biolink:category biolink:Gene . OMIM:604583 a owl:Class ; rdfs:label "PDCD5" ; IAO:0000142 PMID:8438152, PMID:9920759 ; - oboInOwl:hasDbXref UMLS:C1418405 ; oboInOwl:hasExactSynonym "PDCD5", "programmed cell death 5", "tf1 cell apoptosis-related gene 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9141 ; - skos:exactMatch HGNC_symbol:PDCD5 ; + skos:exactMatch UMLS:C1418405, + HGNC:8764, + HGNC_symbol:PDCD5 ; biolink:category biolink:Gene . OMIM:604584 a owl:Class ; @@ -191792,14 +198086,15 @@ OMIM:604584 a owl:Class ; PMID:7898930 ; RO:0002525 CHR:9606chr8p22 ; RO:0003303 OMIM:114550 ; - oboInOwl:hasDbXref UMLS:C1335203 ; oboInOwl:hasExactSynonym "PDGFRL", "pdgrl", "platelet-derived growth factor receptor-like", "platelet-derived growth factor-beta-like tumor suppressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5157 ; - skos:exactMatch HGNC_symbol:PDGFRL ; + skos:exactMatch UMLS:C1335203, + HGNC:8805, + HGNC_symbol:PDGFRL ; biolink:category biolink:Gene . OMIM:604585 a owl:Class ; @@ -191807,7 +198102,6 @@ OMIM:604585 a owl:Class ; IAO:0000142 PMID:2258622, PMID:8695863, PMID:9636146 ; - oboInOwl:hasDbXref UMLS:C1420332 ; oboInOwl:hasExactSynonym "SP100", "lysp100b", "nuclear antigen sp100", @@ -191817,20 +198111,23 @@ OMIM:604585 a owl:Class ; "speckled, 100-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6672 ; - skos:exactMatch HGNC_symbol:SP100 ; + skos:exactMatch UMLS:C1420332, + HGNC:11206, + HGNC_symbol:SP100 ; biolink:category biolink:Gene . OMIM:604586 a owl:Class ; rdfs:label "STXBP5" ; IAO:0000142 PMID:14983051, PMID:9620695 ; - oboInOwl:hasDbXref UMLS:C1426315 ; oboInOwl:hasExactSynonym "STXBP5", "syntaxin-binding protein 5", "tomosyn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134957 ; - skos:exactMatch HGNC_symbol:STXBP5 ; + skos:exactMatch UMLS:C1426315, + HGNC:19665, + HGNC_symbol:STXBP5 ; biolink:category biolink:Gene . OMIM:604587 a owl:Class ; @@ -191839,13 +198136,14 @@ OMIM:604587 a owl:Class ; PMID:26266977, PMID:7540613, PMID:8280462 ; - oboInOwl:hasDbXref UMLS:C1824521 ; oboInOwl:hasExactSynonym "CALCOCO2", "calcium binding and coiled-coil domain protein 2", "nuclear domain 10 protein 52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10241 ; - skos:exactMatch HGNC_symbol:CALCOCO2 ; + skos:exactMatch UMLS:C1824521, + HGNC:29912, + HGNC_symbol:CALCOCO2 ; biolink:category biolink:Gene . OMIM:604588 a owl:Class ; @@ -191869,27 +198167,29 @@ OMIM:604588 a owl:Class ; PMID:9070925 ; RO:0002525 CHR:9606chr4q33 ; RO:0003303 OMIM:617892 ; - oboInOwl:hasDbXref UMLS:C1417671 ; oboInOwl:hasExactSynonym "NEK1", "kiaa1901", "never 1n mitosis gene a-related kinase 1", "nima-related kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4750 ; - skos:exactMatch HGNC_symbol:NEK1 ; + skos:exactMatch UMLS:C1417671, + HGNC:7744, + HGNC_symbol:NEK1 ; biolink:category biolink:Gene . OMIM:604589 a owl:Class ; rdfs:label "BRD1" ; IAO:0000142 PMID:10602503 ; - oboInOwl:hasDbXref UMLS:C1412820 ; oboInOwl:hasExactSynonym "BRD1", "br140-like gene", "bromodomain- and phd finger-containing protein 2", "bromodomain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23774 ; - skos:exactMatch HGNC_symbol:BRD1 ; + skos:exactMatch UMLS:C1412820, + HGNC:1102, + HGNC_symbol:BRD1 ; biolink:category biolink:Gene . OMIM:604590 a owl:Class ; @@ -191916,9 +198216,6 @@ OMIM:604590 a owl:Class ; PMID:26140596 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:152700 ; - oboInOwl:hasDbXref UMLS:C1414554, - UMLS:C2720293, - UMLS:C3862275 ; oboInOwl:hasExactSynonym "FCGR2B", "cd32", "fc fragment of igg receptor iib", @@ -191926,7 +198223,11 @@ OMIM:604590 a owl:Class ; "fc-gamma-riib" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2213 ; - skos:exactMatch HGNC_symbol:FCGR2B ; + skos:exactMatch UMLS:C1414554, + UMLS:C2720293, + UMLS:C3862275, + HGNC:3618, + HGNC_symbol:FCGR2B ; biolink:category biolink:Gene . OMIM:604591 a owl:Class ; @@ -191943,7 +198244,6 @@ OMIM:604591 a owl:Class ; PMID:7807553, PMID:8144042, PMID:8738137 ; - oboInOwl:hasDbXref UMLS:C1826565 ; oboInOwl:hasExactSynonym "PEBP1", "hcnp precursor protein", "hippocampal cholinergic neurostimulating peptide precursor protein", @@ -191952,7 +198252,9 @@ OMIM:604591 a owl:Class ; "raf kinase inhibitor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5037 ; - skos:exactMatch HGNC_symbol:PEBP1 ; + skos:exactMatch UMLS:C1826565, + HGNC:8630, + HGNC_symbol:PEBP1 ; biolink:category biolink:Gene . OMIM:604592 a owl:Class ; @@ -191975,7 +198277,6 @@ OMIM:604592 a owl:Class ; PMID:9806637 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:259700 ; - oboInOwl:hasDbXref UMLS:C1420649 ; oboInOwl:hasExactSynonym "TCIRG1", "atpase, h+ transporting, lysosomal, v0 subunit a3", "oc116", @@ -191984,7 +198285,9 @@ OMIM:604592 a owl:Class ; "vacuolar proton pump, alpha subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10312 ; - skos:exactMatch HGNC_symbol:TCIRG1 ; + skos:exactMatch UMLS:C1420649, + HGNC:11647, + HGNC_symbol:TCIRG1 ; biolink:category biolink:Gene . OMIM:604593 a owl:Class ; @@ -191997,13 +198300,14 @@ OMIM:604593 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr2q23.1-q23.2 ; RO:0003303 OMIM:615282 ; - oboInOwl:hasDbXref UMLS:C1416640 ; oboInOwl:hasExactSynonym "KIF5C", "kinesin family member 5c", "kinesin, heavy chain, neuron-specific, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3800 ; - skos:exactMatch HGNC_symbol:KIF5C ; + skos:exactMatch UMLS:C1416640, + HGNC:6325, + HGNC_symbol:KIF5C ; biolink:category biolink:Gene . OMIM:604594 a owl:Class ; @@ -192013,26 +198317,29 @@ OMIM:604594 a owl:Class ; PMID:9581762 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:615789 ; - oboInOwl:hasDbXref UMLS:C1824793 ; oboInOwl:hasExactSynonym "CRIPT", "cysteine-rich interactor of pdz3", "cysteine-rich pdz domain-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9419 ; - skos:exactMatch HGNC_symbol:CRIPT ; + skos:exactMatch UMLS:C1824793, + HGNC:14312, + HGNC_symbol:CRIPT ; biolink:category biolink:Gene . OMIM:604596 a owl:Class ; rdfs:label "CDRT1" ; IAO:0000142 PMID:9403059, PMID:9787083 ; - oboInOwl:hasDbXref UMLS:C1422603 ; oboInOwl:hasExactSynonym "CDRT1", "c17orf1", "chromosome 17 open reading frame 1a", "cmt1a duplicated region transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374286 ; + skos:exactMatch UMLS:C1422603, + HGNC:14379, + HGNC_symbol:FBXW10B ; biolink:category biolink:Gene . OMIM:604597 a owl:Class ; @@ -192047,24 +198354,26 @@ OMIM:604597 a owl:Class ; PMID:22510445 ; RO:0002525 CHR:9606chr12q14.3 ; RO:0003303 OMIM:617667 ; - oboInOwl:hasDbXref UMLS:C1425727 ; oboInOwl:hasExactSynonym "GRIP1", "glutamate receptor-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23426 ; - skos:exactMatch HGNC_symbol:GRIP1 ; + skos:exactMatch UMLS:C1425727, + HGNC:18708, + HGNC_symbol:GRIP1 ; biolink:category biolink:Gene . OMIM:604598 a owl:Class ; rdfs:label "OSGIN2" ; IAO:0000142 PMID:9933573 ; - oboInOwl:hasDbXref UMLS:C1826518 ; oboInOwl:hasExactSynonym "OSGIN2", "chromosome 8 open reading frame 1", "oxidative stress-induced growth inhibitor family member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:734 ; - skos:exactMatch HGNC_symbol:OSGIN2 ; + skos:exactMatch UMLS:C1826518, + HGNC:1355, + HGNC_symbol:OSGIN2 ; biolink:category biolink:Gene . OMIM:604599 a owl:Class ; @@ -192081,7 +198390,6 @@ OMIM:604599 a owl:Class ; PMID:27339988, PMID:2813433, PMID:8457211 ; - oboInOwl:hasDbXref UMLS:C1825038 ; oboInOwl:hasExactSynonym "EHMT2", "euchromatic histone-lysine n-methyltransferase 2", "g9a", @@ -192089,7 +198397,9 @@ OMIM:604599 a owl:Class ; "ng36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10919 ; - skos:exactMatch HGNC_symbol:EHMT2 ; + skos:exactMatch UMLS:C1825038, + HGNC:14129, + HGNC_symbol:EHMT2 ; biolink:category biolink:Gene . OMIM:604600 a owl:Class ; @@ -192103,14 +198413,15 @@ OMIM:604600 a owl:Class ; PMID:21932052, PMID:26847546, PMID:30022164 ; - oboInOwl:hasDbXref UMLS:C1336676 ; oboInOwl:hasExactSynonym "TRPM5", "long transient receptor potential channel 5", "mlsn1- and trp-related gene 1", "transient receptor potential cation channel, subfamily m, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29850 ; - skos:exactMatch HGNC_symbol:TRPM5 ; + skos:exactMatch UMLS:C1336676, + HGNC:14323, + HGNC_symbol:TRPM5 ; biolink:category biolink:Gene . OMIM:604601 a owl:Class ; @@ -192118,12 +198429,13 @@ OMIM:604601 a owl:Class ; IAO:0000142 PMID:10773675, PMID:17803939, PMID:9838146 ; - oboInOwl:hasDbXref UMLS:C1417454 ; oboInOwl:hasExactSynonym "MTRF1", "translational release factor, mitochondrial, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9617 ; - skos:exactMatch HGNC_symbol:MTRF1 ; + skos:exactMatch UMLS:C1417454, + HGNC:7469, + HGNC_symbol:MTRF1 ; biolink:category biolink:Gene . OMIM:604602 a owl:Class ; @@ -192131,13 +198443,14 @@ OMIM:604602 a owl:Class ; IAO:0000142 PMID:10773675, PMID:19716793, PMID:9838146 ; - oboInOwl:hasDbXref UMLS:C1417252 ; oboInOwl:hasExactSynonym "MRRF", "ribosome-recycling factor, mitochondrial", "rrf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92399 ; - skos:exactMatch HGNC_symbol:MRRF ; + skos:exactMatch UMLS:C1417252, + HGNC:7234, + HGNC_symbol:MRRF ; biolink:category biolink:Gene . OMIM:604603 a owl:Class ; @@ -192148,13 +198461,14 @@ OMIM:604603 a owl:Class ; PMID:32542751 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:619366 ; - oboInOwl:hasDbXref UMLS:C1414587 ; oboInOwl:hasExactSynonym "MYOF", "fer1, c. elegans, homolog-like 3", "myoferlin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26509 ; - skos:exactMatch HGNC_symbol:MYOF ; + skos:exactMatch UMLS:C1414587, + HGNC:3656, + HGNC_symbol:MYOF ; biolink:category biolink:Gene . OMIM:604604 a owl:Class ; @@ -192163,25 +198477,27 @@ OMIM:604604 a owl:Class ; PMID:28334855 ; RO:0002525 CHR:9606chr4p13 ; RO:0003303 OMIM:617595 ; - oboInOwl:hasDbXref UMLS:C1413005 ; oboInOwl:hasExactSynonym "SLC30A9", "chromosome 4 open reading frame 1", "huel", "solute carrier family 30 (zinc transporter), member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10463 ; - skos:exactMatch HGNC_symbol:SLC30A9 ; + skos:exactMatch UMLS:C1413005, + HGNC:1329, + HGNC_symbol:SLC30A9 ; biolink:category biolink:Gene . OMIM:604606 a owl:Class ; rdfs:label "OBP2B" ; IAO:0000142 PMID:10607840 ; - oboInOwl:hasDbXref UMLS:C1428060 ; oboInOwl:hasExactSynonym "OBP2B", "odorant-binding protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29989 ; - skos:exactMatch HGNC_symbol:OBP2B ; + skos:exactMatch UMLS:C1428060, + HGNC:23381, + HGNC_symbol:OBP2B ; biolink:category biolink:Gene . OMIM:604607 a owl:Class ; @@ -192195,12 +198511,13 @@ OMIM:604607 a owl:Class ; PMID:9665387 ; RO:0002525 CHR:9606chr17q21.32 ; RO:0003303 OMIM:610997 ; - oboInOwl:hasDbXref UMLS:C1415664 ; oboInOwl:hasExactSynonym "HOXB13", "homeobox b13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10481 ; - skos:exactMatch HGNC_symbol:HOXB13 ; + skos:exactMatch UMLS:C1415664, + HGNC:5112, + HGNC_symbol:HOXB13 ; biolink:category biolink:Gene . OMIM:604608 a owl:Class ; @@ -192251,14 +198568,15 @@ OMIM:604610 a owl:Class ; PMID:9837821 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:210900 ; - oboInOwl:hasDbXref UMLS:C1337098 ; oboInOwl:hasExactSynonym "DNA helicase, recq-like, iia 2", "RECQL3", "blm gene", "recq protein-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641 ; - skos:exactMatch HGNC_symbol:BLM ; + skos:exactMatch UMLS:C1337098, + HGNC:1058, + HGNC_symbol:BLM ; biolink:category biolink:Gene . OMIM:604611 a owl:Class ; @@ -192313,15 +198631,16 @@ OMIM:604611 a owl:Class ; PMID:9789047 ; RO:0002525 CHR:9606chr8p12 ; RO:0003303 OMIM:277700 ; - oboInOwl:hasDbXref UMLS:C0043119, - UMLS:C1337007 ; oboInOwl:hasExactSynonym "DNA helicase, recq-like, iia 3", "RECQL2", "recq protein-like 2", "wrn gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7486 ; - skos:exactMatch HGNC_symbol:WRN ; + skos:exactMatch UMLS:C0043119, + UMLS:C1337007, + HGNC:12791, + HGNC_symbol:WRN ; biolink:category biolink:Gene . OMIM:604612 a owl:Class ; @@ -192333,14 +198652,15 @@ OMIM:604612 a owl:Class ; PMID:8654958, PMID:9584121, PMID:9703340 ; - oboInOwl:hasDbXref UMLS:C1417735 ; oboInOwl:hasExactSynonym "NKX2-2", "nk2 homeobox 2", "nk2, drosophila, homolog of, B", "nkx2.2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4821 ; - skos:exactMatch HGNC_symbol:NKX2-2 ; + skos:exactMatch UMLS:C1417735, + HGNC:7835, + HGNC_symbol:NKX2-2 ; biolink:category biolink:Gene . OMIM:604613 a owl:Class ; @@ -192353,14 +198673,15 @@ OMIM:604613 a owl:Class ; PMID:9888994 ; RO:0002525 CHR:9606chr6q14.3 ; RO:0003303 OMIM:143400 ; - oboInOwl:hasDbXref UMLS:C0521619, - UMLS:C1420606 ; oboInOwl:hasExactSynonym "TBX18", "t-box 18", "t-box transcription factor 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9096 ; - skos:exactMatch HGNC_symbol:TBX18 ; + skos:exactMatch UMLS:C0521619, + UMLS:C1420606, + HGNC:11595, + HGNC_symbol:TBX18 ; biolink:category biolink:Gene . OMIM:604614 a owl:Class ; @@ -192375,15 +198696,16 @@ OMIM:604614 a owl:Class ; PMID:9888994 ; RO:0002525 CHR:9606chr1q24.2 ; RO:0003303 OMIM:201400 ; - oboInOwl:hasDbXref UMLS:C0271583, - UMLS:C1420607 ; oboInOwl:hasExactSynonym "TBX19", "t-box 19", "t-box factor, pituitary", "t-box transcription factor 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9095 ; - skos:exactMatch HGNC_symbol:TBX19 ; + skos:exactMatch UMLS:C0271583, + UMLS:C1420607, + HGNC:11596, + HGNC_symbol:TBX19 ; biolink:category biolink:Gene . OMIM:604615 a owl:Class ; @@ -192398,14 +198720,15 @@ OMIM:604615 a owl:Class ; PMID:22118525, PMID:23197535, PMID:9888994 ; - oboInOwl:hasDbXref UMLS:C1414420 ; oboInOwl:hasExactSynonym "EOMES", "eomesodermin", "eomesodermin, xenopus, homolog of", "t-box, brain, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8320 ; - skos:exactMatch HGNC_symbol:EOMES ; + skos:exactMatch UMLS:C1414420, + HGNC:3372, + HGNC_symbol:EOMES ; biolink:category biolink:Gene . OMIM:604616 a owl:Class ; @@ -192422,25 +198745,27 @@ OMIM:604616 a owl:Class ; PMID:7619531 ; RO:0002525 CHR:9606chr2q24.2 ; RO:0003303 OMIM:606053 ; - oboInOwl:hasDbXref UMLS:C1420602 ; oboInOwl:hasExactSynonym "TBR1", "t-box, brain, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10716 ; - skos:exactMatch HGNC_symbol:TBR1 ; + skos:exactMatch UMLS:C1420602, + HGNC:11590, + HGNC_symbol:TBR1 ; biolink:category biolink:Gene . OMIM:604617 a owl:Class ; rdfs:label "NEU3" ; IAO:0000142 PMID:10405317 ; - oboInOwl:hasDbXref UMLS:C1417682 ; oboInOwl:hasExactSynonym "NEU3", "neuraminidase 3", "sialidase 3", "sialidase, membrane" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10825 ; - skos:exactMatch HGNC_symbol:NEU3 ; + skos:exactMatch UMLS:C1417682, + HGNC:7760, + HGNC_symbol:NEU3 ; biolink:category biolink:Gene . OMIM:604618 a owl:Class ; @@ -192449,12 +198774,13 @@ OMIM:604618 a owl:Class ; PMID:16864578, PMID:28373563, PMID:9671749 ; - oboInOwl:hasDbXref UMLS:C1417732 ; oboInOwl:hasExactSynonym "NIT1", "nitrilase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4817 ; - skos:exactMatch HGNC_symbol:NIT1 ; + skos:exactMatch UMLS:C1417732, + HGNC:7828, + HGNC_symbol:NIT1 ; biolink:category biolink:Gene . OMIM:604619 a owl:Class ; @@ -192486,13 +198812,14 @@ OMIM:604619 a owl:Class ; PMID:9879993 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:600512 ; - oboInOwl:hasDbXref UMLS:C1367458 ; oboInOwl:hasExactSynonym "LGI1", "epitempin", "leucine-rich gene, glioma-inactivated, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9211 ; - skos:exactMatch HGNC_symbol:LGI1 ; + skos:exactMatch UMLS:C1367458, + HGNC:6572, + HGNC_symbol:LGI1 ; biolink:category biolink:Gene . OMIM:604620 a owl:Class ; @@ -192504,27 +198831,29 @@ OMIM:604620 a owl:Class ; PMID:7969401, PMID:8599842, PMID:9655242 ; - oboInOwl:hasDbXref UMLS:C1415251 ; oboInOwl:hasExactSynonym "GPR65", "g protein-coupled receptor 65", "t-cell death-associated gene 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8477 ; - skos:exactMatch HGNC_symbol:GPR65 ; + skos:exactMatch UMLS:C1415251, + HGNC:4517, + HGNC_symbol:GPR65 ; biolink:category biolink:Gene . OMIM:604621 a owl:Class ; rdfs:label "MGAT3" ; IAO:0000142 PMID:19403558, PMID:8370666 ; - oboInOwl:hasDbXref UMLS:C1417135 ; oboInOwl:hasExactSynonym "MGAT3", "beta-1,4-mannosyl-glycoprotein beta-1,4-n-acetylglucosaminyltransferase", "gnt-iii", "udp-n-acetylglucosamine:beta-d-mannoside beta-1,4-n-acetylglucosaminyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4248 ; - skos:exactMatch HGNC_symbol:MGAT3 ; + skos:exactMatch UMLS:C1417135, + HGNC:7046, + HGNC_symbol:MGAT3 ; biolink:category biolink:Gene . OMIM:604622 a owl:Class ; @@ -192536,7 +198865,6 @@ OMIM:604623 a owl:Class ; IAO:0000142 PMID:10024668, PMID:16377570, PMID:16611957 ; - oboInOwl:hasDbXref UMLS:C1417136 ; oboInOwl:hasExactSynonym "MGAT4A", "alpha-1,3-mannosyl-glycoprotein beta-1,4-n-acetylglucosaminyltransferase, isozyme a", "gnt-iva", @@ -192544,7 +198872,9 @@ OMIM:604623 a owl:Class ; "udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase, isozyme a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11320 ; - skos:exactMatch HGNC_symbol:MGAT4A ; + skos:exactMatch UMLS:C1417136, + HGNC:7047, + HGNC_symbol:MGAT4A ; biolink:category biolink:Gene . OMIM:604624 a owl:Class ; @@ -192555,25 +198885,27 @@ OMIM:604624 a owl:Class ; PMID:9858786 ; RO:0002525 CHR:9606chr5q11.2 ; RO:0003303 OMIM:613376 ; - oboInOwl:hasDbXref UMLS:C1415769 ; oboInOwl:hasExactSynonym "HSPB3", "heat-shock 27-kd protein 3", "heat-shock protein 27-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8988 ; - skos:exactMatch HGNC_symbol:HSPB3 ; + skos:exactMatch UMLS:C1415769, + HGNC:5248, + HGNC_symbol:HSPB3 ; biolink:category biolink:Gene . OMIM:604626 a owl:Class ; rdfs:label "ME3" ; IAO:0000142 PMID:7818469 ; - oboInOwl:hasDbXref UMLS:C1417094 ; oboInOwl:hasExactSynonym "ME3", "malic enzyme 3", "malic enzyme, nadp(+)-dependent, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10873 ; - skos:exactMatch HGNC_symbol:ME3 ; + skos:exactMatch UMLS:C1417094, + HGNC:6985, + HGNC_symbol:ME3 ; biolink:category biolink:Gene . OMIM:604627 a owl:Class ; @@ -192581,12 +198913,13 @@ OMIM:604627 a owl:Class ; IAO:0000142 PMID:10639155, PMID:10749887, PMID:17982105 ; - oboInOwl:hasDbXref UMLS:C1416389 ; oboInOwl:hasExactSynonym "IL17B", "interleukin 17b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27190 ; - skos:exactMatch HGNC_symbol:IL17B ; + skos:exactMatch UMLS:C1416389, + HGNC:5982, + HGNC_symbol:IL17B ; biolink:category biolink:Gene . OMIM:604628 a owl:Class ; @@ -192597,12 +198930,13 @@ OMIM:604628 a owl:Class ; PMID:21982598, PMID:21993848, PMID:25849644 ; - oboInOwl:hasDbXref UMLS:C1334107 ; oboInOwl:hasExactSynonym "IL17C", "interleukin 17c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27189 ; - skos:exactMatch HGNC_symbol:IL17C ; + skos:exactMatch UMLS:C1334107, + HGNC:5983, + HGNC_symbol:IL17C ; biolink:category biolink:Gene . OMIM:604629 a owl:Class ; @@ -192616,13 +198950,14 @@ OMIM:604629 a owl:Class ; PMID:9398237 ; RO:0002525 CHR:9606chr11q22.2 ; RO:0003303 OMIM:612529 ; - oboInOwl:hasDbXref UMLS:C1417208 ; oboInOwl:hasExactSynonym "MMP20", "enamelysin", "matrix metalloproteinase 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9313 ; - skos:exactMatch HGNC_symbol:MMP20 ; + skos:exactMatch UMLS:C1417208, + HGNC:7167, + HGNC_symbol:MMP20 ; biolink:category biolink:Gene . OMIM:604630 a owl:Class ; @@ -192640,13 +198975,14 @@ OMIM:604630 a owl:Class ; PMID:9603951 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:601665 ; - oboInOwl:hasDbXref UMLS:C1334896 ; oboInOwl:hasExactSynonym "NR0B2", "nuclear receptor subfamily 0, group b, member 2", "small heterodimer partner" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8431 ; - skos:exactMatch HGNC_symbol:NR0B2 ; + skos:exactMatch UMLS:C1334896, + HGNC:7961, + HGNC_symbol:NR0B2 ; biolink:category biolink:Gene . OMIM:604631 a owl:Class ; @@ -192654,12 +198990,13 @@ OMIM:604631 a owl:Class ; IAO:0000142 PMID:2483112, PMID:7774926, PMID:8938427 ; - oboInOwl:hasDbXref UMLS:C1424634 ; oboInOwl:hasExactSynonym "VAT1", "vesicle amine transport protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10493 ; - skos:exactMatch HGNC_symbol:VAT1 ; + skos:exactMatch UMLS:C1424634, + HGNC:16919, + HGNC_symbol:VAT1 ; biolink:category biolink:Gene . OMIM:604632 a owl:Class ; @@ -192674,7 +199011,6 @@ OMIM:604632 a owl:Class ; PMID:8611628 ; RO:0002525 CHR:9606chr16q22.1-q22.2 ; RO:0003303 OMIM:617054 ; - oboInOwl:hasDbXref UMLS:C1540172 ; oboInOwl:hasExactSynonym "VAC14", "tax-reactive protein 10", "tax1-binding protein 2", @@ -192683,7 +199019,9 @@ OMIM:604632 a owl:Class ; "vac14, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55697 ; - skos:exactMatch HGNC_symbol:VAC14 ; + skos:exactMatch UMLS:C1540172, + HGNC:25507, + HGNC_symbol:VAC14 ; biolink:category biolink:Gene . OMIM:604633 a owl:Class ; @@ -192702,64 +199040,69 @@ OMIM:604633 a owl:Class ; PMID:8985490 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:614437 ; - oboInOwl:hasDbXref UMLS:C1414298 ; oboInOwl:hasExactSynonym "EFEMP2", "egf-containing fibulin-like extracellular matrix protein 2", "fibulin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30008 ; - skos:exactMatch HGNC_symbol:EFEMP2 ; + skos:exactMatch UMLS:C1414298, + HGNC:3219, + HGNC_symbol:EFEMP2 ; biolink:category biolink:Gene . OMIM:604634 a owl:Class ; rdfs:label "TAGLN2" ; IAO:0000142 PMID:7788527, PMID:9693045 ; - oboInOwl:hasDbXref UMLS:C1420579 ; oboInOwl:hasExactSynonym "TAGLN2", "transgelin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8407 ; - skos:exactMatch HGNC_symbol:TAGLN2 ; + skos:exactMatch UMLS:C1420579, + HGNC:11554, + HGNC_symbol:TAGLN2 ; biolink:category biolink:Gene . OMIM:604635 a owl:Class ; rdfs:label "NXPH2" ; IAO:0000142 PMID:8699246, PMID:9570794 ; - oboInOwl:hasDbXref UMLS:C1417903 ; oboInOwl:hasExactSynonym "NXPH2", "neurexophilin 2", "nph2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11249 ; - skos:exactMatch HGNC_symbol:NXPH2 ; + skos:exactMatch UMLS:C1417903, + HGNC:8076, + HGNC_symbol:NXPH2 ; biolink:category biolink:Gene . OMIM:604636 a owl:Class ; rdfs:label "NXPH3" ; IAO:0000142 PMID:8699246, PMID:9570794 ; - oboInOwl:hasDbXref UMLS:C1417904 ; oboInOwl:hasExactSynonym "NXPH3", "neurexophilin 3", "nph3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11248 ; - skos:exactMatch HGNC_symbol:NXPH3 ; + skos:exactMatch UMLS:C1417904, + HGNC:8077, + HGNC_symbol:NXPH3 ; biolink:category biolink:Gene . OMIM:604637 a owl:Class ; rdfs:label "NXPH4" ; IAO:0000142 PMID:8699246, PMID:9570794 ; - oboInOwl:hasDbXref UMLS:C1417905 ; oboInOwl:hasExactSynonym "NXPH4", "neurexophilin 4", "nph4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11247 ; - skos:exactMatch HGNC_symbol:NXPH4 ; + skos:exactMatch UMLS:C1417905, + HGNC:8078, + HGNC_symbol:NXPH4 ; biolink:category biolink:Gene . OMIM:604638 a owl:Class ; @@ -192774,26 +199117,28 @@ OMIM:604638 a owl:Class ; PMID:9508771 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:603278 ; - oboInOwl:hasDbXref UMLS:C1412168 ; oboInOwl:hasExactSynonym "ACTN4", "actinin, alpha-4", "actinin-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81 ; - skos:exactMatch HGNC_symbol:ACTN4 ; + skos:exactMatch UMLS:C1412168, + HGNC:166, + HGNC_symbol:ACTN4 ; biolink:category biolink:Gene . OMIM:604639 a owl:Class ; rdfs:label "NXPH1" ; IAO:0000142 PMID:8699246, PMID:9570794 ; - oboInOwl:hasDbXref UMLS:C1427081 ; oboInOwl:hasExactSynonym "NXPH1", "neurexophilin 1", "nph1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30010 ; - skos:exactMatch HGNC_symbol:NXPH1 ; + skos:exactMatch UMLS:C1427081, + HGNC:20693, + HGNC_symbol:NXPH1 ; biolink:category biolink:Gene . OMIM:604640 a owl:Class ; @@ -192807,14 +199152,15 @@ OMIM:604640 a owl:Class ; PMID:12548735, PMID:15064766, PMID:8099440 ; - oboInOwl:hasDbXref UMLS:C1422043 ; oboInOwl:hasExactSynonym "TLX3", "homeobox 11-like 2", "respiratory neuron homeobox, mouse, homolog of", "t-cell leukemia homeobox 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30012 ; - skos:exactMatch HGNC_symbol:TLX3 ; + skos:exactMatch UMLS:C1422043, + HGNC:13532, + HGNC_symbol:TLX3 ; biolink:category biolink:Gene . OMIM:604641 a owl:Class ; @@ -192831,15 +199177,16 @@ OMIM:604641 a owl:Class ; PMID:9933567 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1417024, - UMLS:C3837967 ; oboInOwl:hasExactSynonym "MAPK8IP1", "islet-brain 1", "jnk-interacting protein 1", "mitogen-activated protein kinase 8-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9479 ; - skos:exactMatch HGNC_symbol:MAPK8IP1 ; + skos:exactMatch UMLS:C1417024, + UMLS:C3837967, + HGNC:6882, + HGNC_symbol:MAPK8IP1 ; biolink:category biolink:Gene . OMIM:604642 a owl:Class ; @@ -192847,7 +199194,6 @@ OMIM:604642 a owl:Class ; IAO:0000142 PMID:8673298, PMID:9878252, PMID:9921901 ; - oboInOwl:hasDbXref UMLS:C1413039 ; oboInOwl:hasExactSynonym "CA10", "ca 10", "carbonic anhydrase 10", @@ -192855,14 +199201,14 @@ OMIM:604642 a owl:Class ; "carp 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56934 ; - skos:exactMatch HGNC_symbol:CA10 ; + skos:exactMatch UMLS:C1413039, + HGNC:1369, + HGNC_symbol:CA10 ; biolink:category biolink:Gene . OMIM:604643 a owl:Class ; rdfs:label "NPFF" ; IAO:0000142 PMID:9224703 ; - oboInOwl:hasDbXref UMLS:C1417780, - UMLS:C1858201 ; oboInOwl:hasExactSynonym "NPFF", "fmrf-amide-like peptide precursor", "neuropeptide af-amide peptide", @@ -192870,7 +199216,10 @@ OMIM:604643 a owl:Class ; "neuropeptide ff-amide peptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8620 ; - skos:exactMatch HGNC_symbol:NPFF ; + skos:exactMatch UMLS:C1417780, + UMLS:C1858201, + HGNC:7901, + HGNC_symbol:NPFF ; biolink:category biolink:Gene . OMIM:604644 a owl:Class ; @@ -192878,7 +199227,6 @@ OMIM:604644 a owl:Class ; IAO:0000142 PMID:10350627, PMID:9878252, PMID:9878543 ; - oboInOwl:hasDbXref UMLS:C1413040 ; oboInOwl:hasExactSynonym "CA11", "carbonic anhydrase 11", "carbonic anhydrase-related protein 11", @@ -192886,7 +199234,9 @@ OMIM:604644 a owl:Class ; "carp 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:770 ; - skos:exactMatch HGNC_symbol:CA11 ; + skos:exactMatch UMLS:C1413040, + HGNC:1370, + HGNC_symbol:CA11 ; biolink:category biolink:Gene . OMIM:604645 a owl:Class ; @@ -192894,25 +199244,27 @@ OMIM:604645 a owl:Class ; IAO:0000142 PMID:10618442, PMID:10814504, PMID:10872825 ; - oboInOwl:hasDbXref UMLS:C1418432 ; oboInOwl:hasExactSynonym "PDE7B", "phosphodiesterase 7b, camp-specific, high affinity" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27115 ; - skos:exactMatch HGNC_symbol:PDE7B ; + skos:exactMatch UMLS:C1418432, + HGNC:8792, + HGNC_symbol:PDE7B ; biolink:category biolink:Gene . OMIM:604646 a owl:Class ; rdfs:label "NUP50" ; IAO:0000142 PMID:10449902, PMID:12176322 ; - oboInOwl:hasDbXref UMLS:C1417894 ; oboInOwl:hasExactSynonym "NUP50", "npap60, rat, homolog of", "nucleoporin, 50-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10762 ; - skos:exactMatch HGNC_symbol:NUP50 ; + skos:exactMatch UMLS:C1417894, + HGNC:8065, + HGNC_symbol:NUP50 ; biolink:category biolink:Gene . OMIM:604647 a owl:Class ; @@ -192921,13 +199273,14 @@ OMIM:604647 a owl:Class ; PMID:16595675, PMID:17170272, PMID:22843680 ; - oboInOwl:hasDbXref UMLS:C1539311 ; oboInOwl:hasExactSynonym "CALY", "calcyon", "dopamine receptor d1-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50632 ; - skos:exactMatch HGNC_symbol:CALY ; + skos:exactMatch UMLS:C1539311, + HGNC:17938, + HGNC_symbol:CALY ; biolink:category biolink:Gene . OMIM:604648 a owl:Class ; @@ -192936,13 +199289,14 @@ OMIM:604648 a owl:Class ; PMID:5297683, PMID:6230750, PMID:9545502 ; - oboInOwl:hasDbXref UMLS:C1420604 ; oboInOwl:hasExactSynonym "TBX10", "t-box 10", "t-box transcription factor 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347853 ; - skos:exactMatch HGNC_symbol:TBX10 ; + skos:exactMatch UMLS:C1420604, + HGNC:11593, + HGNC_symbol:TBX10 ; biolink:category biolink:Gene . OMIM:604649 a owl:Class ; @@ -192955,12 +199309,13 @@ OMIM:604649 a owl:Class ; PMID:27666374 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:617193 ; - oboInOwl:hasDbXref UMLS:C1420596 ; oboInOwl:hasExactSynonym "TBCD", "tubulin-specific chaperone d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6904 ; - skos:exactMatch HGNC_symbol:TBCD ; + skos:exactMatch UMLS:C1420596, + HGNC:11581, + HGNC_symbol:TBCD ; biolink:category biolink:Gene . OMIM:604650 a owl:Class ; @@ -192969,7 +199324,6 @@ OMIM:604650 a owl:Class ; PMID:9207104, PMID:9391139, PMID:9828129 ; - oboInOwl:hasDbXref UMLS:C1415895 ; oboInOwl:hasExactSynonym "IFIT3", "ifit4", "interferon-induced protein 60", @@ -192977,7 +199331,9 @@ OMIM:604650 a owl:Class ; "retinoic acid-induced gene g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3437 ; - skos:exactMatch HGNC_symbol:IFIT3 ; + skos:exactMatch UMLS:C1415895, + HGNC:5411, + HGNC_symbol:IFIT3 ; biolink:category biolink:Gene . OMIM:604651 a owl:Class ; @@ -192990,13 +199346,14 @@ OMIM:604651 a owl:Class ; PMID:8145850, PMID:9218508, PMID:9808626 ; - oboInOwl:hasDbXref UMLS:C1415037 ; oboInOwl:hasExactSynonym "GDF7", "bone morphogenetic protein 12", "growth/differentiation factor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151449 ; - skos:exactMatch HGNC_symbol:GDF7 ; + skos:exactMatch UMLS:C1415037, + HGNC:4222, + HGNC_symbol:GDF7 ; biolink:category biolink:Gene . OMIM:604652 a owl:Class ; @@ -193007,13 +199364,14 @@ OMIM:604652 a owl:Class ; PMID:17018284, PMID:1741298, PMID:19718027 ; - oboInOwl:hasDbXref UMLS:C1420643 ; oboInOwl:hasExactSynonym "TCF7L1", "transcription factor 3, formerly", "transcription factor 7-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83439 ; - skos:exactMatch HGNC_symbol:TCF7L1 ; + skos:exactMatch UMLS:C1420643, + HGNC:11640, + HGNC_symbol:TCF7L1 ; biolink:category biolink:Gene . OMIM:604653 a owl:Class ; @@ -193042,7 +199400,6 @@ OMIM:604653 a owl:Class ; PMID:29599243 ; RO:0002525 CHR:9606chr2q32.2 ; RO:0003303 OMIM:606069 ; - oboInOwl:hasDbXref UMLS:C1456396 ; oboInOwl:hasExactSynonym "SLC40A1", "ferroportin 1", "iron-regulated transporter 1", @@ -193050,7 +199407,9 @@ OMIM:604653 a owl:Class ; "solute carrier family 40 (iron-regulated transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30061 ; - skos:exactMatch HGNC_symbol:SLC40A1 ; + skos:exactMatch UMLS:C1456396, + HGNC:10909, + HGNC_symbol:SLC40A1 ; biolink:category biolink:Gene . OMIM:604654 a owl:Class ; @@ -193060,13 +199419,14 @@ OMIM:604654 a owl:Class ; PMID:16487942, PMID:18184810, PMID:9950429 ; - oboInOwl:hasDbXref UMLS:C1415812 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 3b", "HTR3B", "serotonin 5-ht-3b receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9177 ; - skos:exactMatch HGNC_symbol:HTR3B ; + skos:exactMatch UMLS:C1415812, + HGNC:5298, + HGNC_symbol:HTR3B ; biolink:category biolink:Gene . OMIM:604655 a owl:Class ; @@ -193082,7 +199442,6 @@ OMIM:604655 a owl:Class ; PMID:30894749, PMID:9020361, PMID:9799091 ; - oboInOwl:hasDbXref UMLS:C1367673 ; oboInOwl:hasExactSynonym "MAP3K14", "hsnik", "mitogen-activated protein kinase kinase kinase 14", @@ -193090,7 +199449,9 @@ OMIM:604655 a owl:Class ; "serine/threonine protein kinase nik" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9020 ; - skos:exactMatch HGNC_symbol:MAP3K14 ; + skos:exactMatch UMLS:C1367673, + HGNC:6853, + HGNC_symbol:MAP3K14 ; biolink:category biolink:Gene . OMIM:604656 a owl:Class ; @@ -193098,7 +199459,6 @@ OMIM:604656 a owl:Class ; IAO:0000142 PMID:10958683, PMID:12684686, PMID:9799091 ; - oboInOwl:hasDbXref UMLS:C1412906 ; oboInOwl:hasExactSynonym "FMNL1", "c17orf1", "chromosome 17 open reading frame 1b", @@ -193106,7 +199466,9 @@ OMIM:604656 a owl:Class ; "formin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:752 ; - skos:exactMatch HGNC_symbol:FMNL1 ; + skos:exactMatch UMLS:C1412906, + HGNC:1212, + HGNC_symbol:FMNL1 ; biolink:category biolink:Gene . OMIM:604657 a owl:Class ; @@ -193114,19 +199476,18 @@ OMIM:604657 a owl:Class ; IAO:0000142 PMID:18357344, PMID:8895530, PMID:9479038 ; - oboInOwl:hasDbXref UMLS:C1420765 ; oboInOwl:hasExactSynonym "TM4SF5", "transmembrane 4 superfamily, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9032 ; - skos:exactMatch HGNC_symbol:TM4SF5 ; + skos:exactMatch UMLS:C1420765, + HGNC:11857, + HGNC_symbol:TM4SF5 ; biolink:category biolink:Gene . OMIM:604658 a owl:Class ; rdfs:label "TM7SF1" ; IAO:0000142 PMID:9521871 ; - oboInOwl:hasDbXref UMLS:C1825404, - UMLS:C1858190 ; oboInOwl:hasExactSynonym "TM7SF1", "transmembrane 7 superfamily, member 1", "transmembrane 7 superfamily, member 1, intermediate", @@ -193134,7 +199495,10 @@ OMIM:604658 a owl:Class ; "transmembrane 7 superfamily, member 1, short" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7107 ; - skos:exactMatch HGNC_symbol:GPR137B ; + skos:exactMatch UMLS:C1825404, + UMLS:C1858190, + HGNC:11862, + HGNC_symbol:GPR137B ; biolink:category biolink:Gene . OMIM:604659 a owl:Class ; @@ -193147,7 +199511,6 @@ OMIM:604659 a owl:Class ; PMID:18077339, PMID:19564597, PMID:9882319 ; - oboInOwl:hasDbXref UMLS:C1422036 ; oboInOwl:hasExactSynonym "ERVW1", "endogenous retroviral family w, env-c7, member 1", "endogenous retroviral family w, member 1", @@ -193157,20 +199520,23 @@ OMIM:604659 a owl:Class ; "syncytin a, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30816 ; - skos:exactMatch HGNC_symbol:ERVW-1 ; + skos:exactMatch UMLS:C1422036, + HGNC:13525, + HGNC_symbol:ERVW-1 ; biolink:category biolink:Gene . OMIM:604660 a owl:Class ; rdfs:label "KCNIP1" ; IAO:0000142 PMID:10676964, PMID:19138172 ; - oboInOwl:hasDbXref UMLS:C1423551 ; oboInOwl:hasExactSynonym "KCNIP1", "kchip1", "potassium channel-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30820 ; - skos:exactMatch HGNC_symbol:KCNIP1 ; + skos:exactMatch UMLS:C1423551, + HGNC:15521, + HGNC_symbol:KCNIP1 ; biolink:category biolink:Gene . OMIM:604661 a owl:Class ; @@ -193178,13 +199544,14 @@ OMIM:604661 a owl:Class ; IAO:0000142 PMID:10676964, PMID:11747815, PMID:22367544 ; - oboInOwl:hasDbXref UMLS:C1423552 ; oboInOwl:hasExactSynonym "KCNIP2", "kchip2", "potassium channel-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30819 ; - skos:exactMatch HGNC_symbol:KCNIP2 ; + skos:exactMatch UMLS:C1423552, + HGNC:15522, + HGNC_symbol:KCNIP2 ; biolink:category biolink:Gene . OMIM:604662 a owl:Class ; @@ -193197,7 +199564,6 @@ OMIM:604662 a owl:Class ; PMID:21059893, PMID:9771752, PMID:9819380 ; - oboInOwl:hasDbXref UMLS:C1825644 ; oboInOwl:hasExactSynonym "KCNIP3", "calsenilin", "dre-antagonist modulator", @@ -193205,7 +199571,9 @@ OMIM:604662 a owl:Class ; "potassium channel-interacting protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30818 ; - skos:exactMatch HGNC_symbol:KCNIP3 ; + skos:exactMatch UMLS:C1825644, + HGNC:15523, + HGNC_symbol:KCNIP3 ; biolink:category biolink:Gene . OMIM:604663 a owl:Class ; @@ -193216,12 +199584,13 @@ OMIM:604663 a owl:Class ; PMID:2279700, PMID:8275860, PMID:9407023 ; - oboInOwl:hasDbXref UMLS:C1421516 ; oboInOwl:hasExactSynonym "WNT6", "wingless-type mmtv integration site family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7475 ; - skos:exactMatch HGNC_symbol:WNT6 ; + skos:exactMatch UMLS:C1421516, + HGNC:12785, + HGNC_symbol:WNT6 ; biolink:category biolink:Gene . OMIM:604664 a owl:Class ; @@ -193231,26 +199600,28 @@ OMIM:604664 a owl:Class ; PMID:11701933, PMID:18815593, PMID:20538950 ; - oboInOwl:hasDbXref UMLS:C1415888 ; oboInOwl:hasExactSynonym "IFI30", "interferon-gamma-inducible protein 30", "lysosomal thiol reductase, gamma-interferon-inducible" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10437 ; - skos:exactMatch HGNC_symbol:IFI30 ; + skos:exactMatch UMLS:C1415888, + HGNC:5398, + HGNC_symbol:IFI30 ; biolink:category biolink:Gene . OMIM:604665 a owl:Class ; rdfs:label "COPS3" ; IAO:0000142 PMID:10588842, PMID:9535219 ; - oboInOwl:hasDbXref UMLS:C1413613 ; oboInOwl:hasExactSynonym "COPS3", "cop9 signalosome, subunit 3", "sgn3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8533 ; - skos:exactMatch HGNC_symbol:COPS3 ; + skos:exactMatch UMLS:C1413613, + HGNC:2239, + HGNC_symbol:COPS3 ; biolink:category biolink:Gene . OMIM:604666 a owl:Class ; @@ -193260,14 +199631,15 @@ OMIM:604666 a owl:Class ; PMID:25799996, PMID:9734811, PMID:9890973 ; - oboInOwl:hasDbXref UMLS:C1367671 ; oboInOwl:hasExactSynonym "MAP4K4", "hematopoietic progenitor kinase/germinal center kinase-like kinase", "mitogen-activated protein kinase kinase kinase kinase 4", "nck-interacting kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9448 ; - skos:exactMatch HGNC_symbol:MAP4K4 ; + skos:exactMatch UMLS:C1367671, + HGNC:6866, + HGNC_symbol:MAP4K4 ; biolink:category biolink:Gene . OMIM:604667 a owl:Class ; @@ -193278,7 +199650,6 @@ OMIM:604667 a owl:Class ; PMID:20826818, PMID:9289490, PMID:9697858 ; - oboInOwl:hasDbXref UMLS:C1413079 ; oboInOwl:hasExactSynonym "CADPS", "cadps1", "calcium-dependent activator protein for secretion", @@ -193286,29 +199657,33 @@ OMIM:604667 a owl:Class ; "kiaa1121" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8618 ; - skos:exactMatch HGNC_symbol:CADPS ; + skos:exactMatch UMLS:C1413079, + HGNC:1426, + HGNC_symbol:CADPS ; biolink:category biolink:Gene . OMIM:604668 a owl:Class ; rdfs:label "ZNF264" ; IAO:0000142 PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1421751 ; oboInOwl:hasExactSynonym "ZNF264", "zinc finger protein 264" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9422 ; - skos:exactMatch HGNC_symbol:ZNF264 ; + skos:exactMatch UMLS:C1421751, + HGNC:13057, + HGNC_symbol:ZNF264 ; biolink:category biolink:Gene . OMIM:604669 a owl:Class ; rdfs:label "PKD2L2" ; IAO:0000142 PMID:10602361 ; - oboInOwl:hasDbXref UMLS:C1418602 ; oboInOwl:hasExactSynonym "PKD2L2", "polycystin 2-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27039 ; - skos:exactMatch HGNC_symbol:PKD2L2 ; + skos:exactMatch UMLS:C1418602, + HGNC:9012, + HGNC_symbol:PKD2L2 ; biolink:category biolink:Gene . OMIM:604670 a owl:Class ; @@ -193316,23 +199691,25 @@ OMIM:604670 a owl:Class ; IAO:0000142 PMID:10602361, PMID:17564962, PMID:9949214 ; - oboInOwl:hasDbXref UMLS:C1418604 ; oboInOwl:hasExactSynonym "PKDREJ", "polycystin and sea urchin rej homolog-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10343 ; - skos:exactMatch HGNC_symbol:PKDREJ ; + skos:exactMatch UMLS:C1418604, + HGNC:9015, + HGNC_symbol:PKDREJ ; biolink:category biolink:Gene . OMIM:604671 a owl:Class ; rdfs:label "JTB" ; IAO:0000142 PMID:10321732 ; - oboInOwl:hasDbXref UMLS:C1334294 ; oboInOwl:hasExactSynonym "JTB", "jumping translocation breakpoint" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10899 ; - skos:exactMatch HGNC_symbol:JTB ; + skos:exactMatch UMLS:C1334294, + HGNC:6201, + HGNC_symbol:JTB ; biolink:category biolink:Gene . OMIM:604672 a owl:Class ; @@ -193359,7 +199736,6 @@ OMIM:604672 a owl:Class ; PMID:26070485 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:607948 ; - oboInOwl:hasDbXref UMLS:C1332707 ; oboInOwl:hasExactSynonym "CD209", "c-type lectin domain family 4, member 50", "cd209 antigen", @@ -193367,20 +199743,23 @@ OMIM:604672 a owl:Class ; "hiv gp120-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30835 ; - skos:exactMatch HGNC_symbol:CD209 ; + skos:exactMatch UMLS:C1332707, + HGNC:1641, + HGNC_symbol:CD209 ; biolink:category biolink:Gene . OMIM:604673 a owl:Class ; rdfs:label "MRVI1" ; IAO:0000142 PMID:10724174 ; - oboInOwl:hasDbXref UMLS:C1334530 ; oboInOwl:hasExactSynonym "MRVI1", "inositol 1,4,5-triphosphate-associated cgmp kinase substrate", "ip3r-associated cgmp kinase substrate", "murine retrovirus integration site 1, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10335 ; - skos:exactMatch HGNC_symbol:IRAG1 ; + skos:exactMatch UMLS:C1334530, + HGNC:7237, + HGNC_symbol:IRAG1 ; biolink:category biolink:Gene . OMIM:604674 a owl:Class ; @@ -193393,7 +199772,6 @@ OMIM:604674 a owl:Class ; PMID:15107403, PMID:16329098, PMID:17468400 ; - oboInOwl:hasDbXref UMLS:C1415525 ; oboInOwl:hasExactSynonym "HEY2", "cardiovascular basic-loop-helix factor, formerly", "gridlock", @@ -193403,7 +199781,9 @@ OMIM:604674 a owl:Class ; "hes-related family bhlh transcription factor with yrpw motif 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23493 ; - skos:exactMatch HGNC_symbol:HEY2 ; + skos:exactMatch UMLS:C1415525, + HGNC:4881, + HGNC_symbol:HEY2 ; biolink:category biolink:Gene . OMIM:604675 a owl:Class ; @@ -193411,13 +199791,14 @@ OMIM:604675 a owl:Class ; IAO:0000142 PMID:11063257, PMID:9665387, PMID:9729491 ; - oboInOwl:hasDbXref UMLS:C1427492 ; oboInOwl:hasExactSynonym "PRRX2", "paired-like homeobox gene 2", "paired-related homeobox gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51450 ; - skos:exactMatch HGNC_symbol:PRRX2 ; + skos:exactMatch UMLS:C1427492, + HGNC:21338, + HGNC_symbol:PRRX2 ; biolink:category biolink:Gene . OMIM:604676 a owl:Class ; @@ -193427,7 +199808,6 @@ OMIM:604676 a owl:Class ; PMID:19483685, PMID:7894158, PMID:8462994 ; - oboInOwl:hasDbXref UMLS:C1427680 ; oboInOwl:hasExactSynonym "HCP5", "d6s2650e", "hla complex p5 gene", @@ -193435,7 +199815,9 @@ OMIM:604676 a owl:Class ; "p5-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10866 ; - skos:exactMatch HGNC_symbol:HCP5 ; + skos:exactMatch UMLS:C1427680, + HGNC:21659, + HGNC_symbol:HCP5 ; biolink:category biolink:Gene . OMIM:604677 a owl:Class ; @@ -193445,7 +199827,6 @@ OMIM:604677 a owl:Class ; PMID:25533962 ; RO:0002525 CHR:9606chr5q13.3 ; RO:0003303 OMIM:616351 ; - oboInOwl:hasDbXref UMLS:C1413584 ; oboInOwl:hasExactSynonym "CERT1", "ceramide transporter 1", "cert", @@ -193453,20 +199834,23 @@ OMIM:604677 a owl:Class ; "goodpasture antigen-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10087 ; - skos:exactMatch HGNC_symbol:CERT1 ; + skos:exactMatch UMLS:C1413584, + HGNC:2205, + HGNC_symbol:CERT1 ; biolink:category biolink:Gene . OMIM:604678 a owl:Class ; rdfs:label "TM9SF2" ; IAO:0000142 PMID:9230071, PMID:9729438 ; - oboInOwl:hasDbXref UMLS:C1420773 ; oboInOwl:hasExactSynonym "TM9SF2", "p76", "transmembrane 9 superfamily, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9375 ; - skos:exactMatch HGNC_symbol:TM9SF2 ; + skos:exactMatch UMLS:C1420773, + HGNC:11865, + HGNC_symbol:TM9SF2 ; biolink:category biolink:Gene . OMIM:604679 a owl:Class ; @@ -193480,7 +199864,6 @@ OMIM:604679 a owl:Class ; PMID:2885805, PMID:7908267, PMID:9582337 ; - oboInOwl:hasDbXref UMLS:C1442738 ; oboInOwl:hasExactSynonym "PABPC1", "poly(a)-binding protein", "poly(a)-binding protein 1", @@ -193488,7 +199871,9 @@ OMIM:604679 a owl:Class ; "polyadenylate-binding protein, cytoplasmic, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26986 ; - skos:exactMatch HGNC_symbol:PABPC1 ; + skos:exactMatch UMLS:C1442738, + HGNC:8554, + HGNC_symbol:PABPC1 ; biolink:category biolink:Gene . OMIM:604681 a owl:Class ; @@ -193502,14 +199887,15 @@ OMIM:604682 a owl:Class ; PMID:1542691, PMID:3498635, PMID:8119947 ; - oboInOwl:hasDbXref UMLS:C1416493 ; oboInOwl:hasExactSynonym "ITGAE", "cd103 antigen", "human mucosal lymphocyte antigen 1, alpha subunit", "integrin, alpha-e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3682 ; - skos:exactMatch HGNC_symbol:ITGAE ; + skos:exactMatch UMLS:C1416493, + HGNC:6147, + HGNC_symbol:ITGAE ; biolink:category biolink:Gene . OMIM:604683 a owl:Class ; @@ -193530,25 +199916,27 @@ OMIM:604683 a owl:Class ; PMID:7559760, PMID:9281580, PMID:9865700 ; - oboInOwl:hasDbXref UMLS:C1416634 ; oboInOwl:hasExactSynonym "KIF3A", "kinesin family member 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11127 ; - skos:exactMatch HGNC_symbol:KIF3A ; + skos:exactMatch UMLS:C1416634, + HGNC:6319, + HGNC_symbol:KIF3A ; biolink:category biolink:Gene . OMIM:604684 a owl:Class ; rdfs:label "MLLT11" ; IAO:0000142 PMID:7833468 ; - oboInOwl:hasDbXref UMLS:C1826257 ; oboInOwl:hasExactSynonym "MLLT11", "all1-fused gene from chromosome 1q", "mllt11 transcription factor 7 cofactor", "myeloid/lymphoid or mixed-lineage leukemia, translocated to, 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10962 ; - skos:exactMatch HGNC_symbol:MLLT11 ; + skos:exactMatch UMLS:C1826257, + HGNC:16997, + HGNC_symbol:MLLT11 ; biolink:category biolink:Gene . OMIM:604685 a owl:Class ; @@ -193563,12 +199951,13 @@ OMIM:604685 a owl:Class ; PMID:9367425 ; RO:0002525 CHR:9606chr7p15.2 ; RO:0003303 OMIM:612290 ; - oboInOwl:hasDbXref UMLS:C1415656 ; oboInOwl:hasExactSynonym "HOXA2", "homeobox a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3199 ; - skos:exactMatch HGNC_symbol:HOXA2 ; + skos:exactMatch UMLS:C1415656, + HGNC:5103, + HGNC_symbol:HOXA2 ; biolink:category biolink:Gene . OMIM:604687 a owl:Class ; @@ -193581,14 +199970,15 @@ OMIM:604687 a owl:Class ; PMID:7642548 ; RO:0002525 CHR:9606chr14q22.1 ; RO:0003303 OMIM:607277 ; - oboInOwl:hasDbXref UMLS:C1419059 ; oboInOwl:hasExactSynonym "PTGDR", "dp1", "prostaglandin d2 receptor", "prostanoid dp receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5729 ; - skos:exactMatch HGNC_symbol:PTGDR ; + skos:exactMatch UMLS:C1419059, + HGNC:9591, + HGNC_symbol:PTGDR ; biolink:category biolink:Gene . OMIM:604688 a owl:Class ; @@ -193601,7 +199991,6 @@ OMIM:604688 a owl:Class ; PMID:1860836, PMID:18711127, PMID:28642438 ; - oboInOwl:hasDbXref UMLS:C1412317 ; oboInOwl:hasExactSynonym "AKAP5", "a-kinase anchor protein 5", "a-kinase anchor protein, 79-kd", @@ -193609,7 +199998,9 @@ OMIM:604688 a owl:Class ; "akap75, bovine, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9495 ; - skos:exactMatch HGNC_symbol:AKAP5 ; + skos:exactMatch UMLS:C1412317, + HGNC:375, + HGNC_symbol:AKAP5 ; biolink:category biolink:Gene . OMIM:604689 a owl:Class ; @@ -193617,7 +200008,6 @@ OMIM:604689 a owl:Class ; IAO:0000142 PMID:10319321, PMID:10334916, PMID:10529264 ; - oboInOwl:hasDbXref UMLS:C1412315 ; oboInOwl:hasExactSynonym "AKAP3", "a-kinase anchor protein 3", "a-kinase anchor protein, 110-kd", @@ -193625,16 +200015,18 @@ OMIM:604689 a owl:Class ; "sperm oocyte-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10566 ; - skos:exactMatch HGNC_symbol:AKAP3 ; + skos:exactMatch UMLS:C1412315, + HGNC:373, + HGNC_symbol:AKAP3 ; biolink:category biolink:Gene . OMIM:604690 a owl:Class ; rdfs:label "growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia" ; IAO:0000142 PMID:10706355 ; - oboInOwl:hasDbXref UMLS:C1858182 ; oboInOwl:hasExactSynonym "growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia", "roca syndrome", - "roca-weidemann syndrome" . + "roca-weidemann syndrome" ; + skos:exactMatch UMLS:C1858182 . OMIM:604691 a owl:Class ; rdfs:label "AKAP6" ; @@ -193642,37 +200034,40 @@ OMIM:604691 a owl:Class ; PMID:16177794, PMID:7721854, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1412318 ; oboInOwl:hasExactSynonym "AKAP6", "a-kinase anchor protein 6", "a-kinase anchor protein, 100-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9472 ; - skos:exactMatch HGNC_symbol:AKAP6 ; + skos:exactMatch UMLS:C1412318, + HGNC:376, + HGNC_symbol:AKAP6 ; biolink:category biolink:Gene . OMIM:604692 a owl:Class ; rdfs:label "AKAP8" ; IAO:0000142 PMID:9473338 ; - oboInOwl:hasDbXref UMLS:C1412320 ; oboInOwl:hasExactSynonym "AKAP8", "a-kinase anchor protein 8", "a-kinase anchor protein, 95-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10270 ; - skos:exactMatch HGNC_symbol:AKAP8 ; + skos:exactMatch UMLS:C1412320, + HGNC:378, + HGNC_symbol:AKAP8 ; biolink:category biolink:Gene . OMIM:604693 a owl:Class ; rdfs:label "AKAP7" ; IAO:0000142 PMID:9545239 ; - oboInOwl:hasDbXref UMLS:C1412319 ; oboInOwl:hasExactSynonym "AKAP7", "a-kinase anchor protein 7", "a-kinase anchor protein, 18-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9465 ; - skos:exactMatch HGNC_symbol:AKAP7 ; + skos:exactMatch UMLS:C1412319, + HGNC:377, + HGNC_symbol:AKAP7 ; biolink:category biolink:Gene . OMIM:604694 a owl:Class ; @@ -193681,13 +200076,14 @@ OMIM:604694 a owl:Class ; PMID:12646697, PMID:17485678, PMID:9326583 ; - oboInOwl:hasDbXref UMLS:C1412312 ; oboInOwl:hasExactSynonym "AKAP10", "a-kinase anchor protein 10", "dual-specific a kinase-anchoring protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11216 ; - skos:exactMatch HGNC_symbol:AKAP10 ; + skos:exactMatch UMLS:C1412312, + HGNC:368, + HGNC_symbol:AKAP10 ; biolink:category biolink:Gene . OMIM:604695 a owl:Class ; @@ -193705,15 +200101,16 @@ OMIM:604695 a owl:Class ; PMID:8034651 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:618173 ; - oboInOwl:hasDbXref UMLS:C1412538, - UMLS:C4748442, - UMLS:C4748536 ; oboInOwl:hasExactSynonym "ARL3", "adp-ribosylation factor-like gtpase 3", "arfl3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:403 ; - skos:exactMatch HGNC_symbol:ARL3 ; + skos:exactMatch UMLS:C1412538, + UMLS:C4748442, + UMLS:C4748536, + HGNC:694, + HGNC_symbol:ARL3 ; biolink:category biolink:Gene . OMIM:604696 a owl:Class ; @@ -193721,13 +200118,14 @@ OMIM:604696 a owl:Class ; IAO:0000142 PMID:21890631, PMID:8621616, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1412313 ; oboInOwl:hasExactSynonym "AKAP11", "a-kinase anchor protein 11", "a-kinase anchor protein, 220-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11215 ; - skos:exactMatch HGNC_symbol:AKAP11 ; + skos:exactMatch UMLS:C1412313, + HGNC:369, + HGNC_symbol:AKAP11 ; biolink:category biolink:Gene . OMIM:604697 a owl:Class ; @@ -193735,14 +200133,15 @@ OMIM:604697 a owl:Class ; IAO:0000142 PMID:10373330, PMID:10488147, PMID:20974991 ; - oboInOwl:hasDbXref UMLS:C1364113 ; oboInOwl:hasExactSynonym "CCL26", "chemokine, cc motif, ligand 26", "eotaxin 3", "small inducible cytokine subfamily a, member 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10344 ; - skos:exactMatch HGNC_symbol:CCL26 ; + skos:exactMatch UMLS:C1364113, + HGNC:10625, + HGNC_symbol:CCL26 ; biolink:category biolink:Gene . OMIM:604698 a owl:Class ; @@ -193750,27 +200149,29 @@ OMIM:604698 a owl:Class ; IAO:0000142 PMID:12808449, PMID:1522245, PMID:9000000 ; - oboInOwl:hasDbXref UMLS:C1332070 ; oboInOwl:hasExactSynonym "AKAP12", "a-kinase anchor protein 12", "a-kinase anchor protein, 250-kd", "gravin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9590 ; - skos:exactMatch HGNC_symbol:AKAP12 ; + skos:exactMatch UMLS:C1332070, + HGNC:370, + HGNC_symbol:AKAP12 ; biolink:category biolink:Gene . OMIM:604699 a owl:Class ; rdfs:label "ARFRP1" ; IAO:0000142 PMID:20038528, PMID:8530503 ; - oboInOwl:hasDbXref UMLS:C1412514 ; oboInOwl:hasExactSynonym "ARFRP1", "adp-ribosylation factor-related protein 1", "arp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10139 ; - skos:exactMatch HGNC_symbol:ARFRP1 ; + skos:exactMatch UMLS:C1412514, + HGNC:662, + HGNC_symbol:ARFRP1 ; biolink:category biolink:Gene . OMIM:604700 a owl:Class ; @@ -193781,13 +200182,14 @@ OMIM:604700 a owl:Class ; PMID:9135152 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:619510 ; - oboInOwl:hasDbXref UMLS:C1420854 ; oboInOwl:hasExactSynonym "TOM1", "target of myb1 membrane trafficking protein", "target of myb1, chicken, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10043 ; - skos:exactMatch HGNC_symbol:TOM1 ; + skos:exactMatch UMLS:C1420854, + HGNC:11982, + HGNC_symbol:TOM1 ; biolink:category biolink:Gene . OMIM:604701 a owl:Class ; @@ -193796,13 +200198,14 @@ OMIM:604701 a owl:Class ; PMID:15611048, PMID:16412388, PMID:16479011 ; - oboInOwl:hasDbXref UMLS:C1420855 ; oboInOwl:hasExactSynonym "TOM1L1", "target of myb1-like 1 membrane trafficking protein", "tom1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10040 ; - skos:exactMatch HGNC_symbol:TOM1L1 ; + skos:exactMatch UMLS:C1420855, + HGNC:11983, + HGNC_symbol:TOM1L1 ; biolink:category biolink:Gene . OMIM:604703 a owl:Class ; @@ -193812,14 +200215,15 @@ OMIM:604703 a owl:Class ; OMIM:604704 a owl:Class ; rdfs:label "BCAR3" ; IAO:0000142 PMID:9582273 ; - oboInOwl:hasDbXref UMLS:C1332386 ; oboInOwl:hasExactSynonym "BCAR3", "breast cancer antiestrogen resistance 3", "novel sh2-containing protein 2", "sh2 domain-containing protein 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8412 ; - skos:exactMatch HGNC_symbol:BCAR3 ; + skos:exactMatch UMLS:C1332386, + HGNC:973, + HGNC_symbol:BCAR3 ; biolink:category biolink:Gene . OMIM:604705 a owl:Class ; @@ -193847,12 +200251,13 @@ OMIM:604705 a owl:Class ; PMID:8086340 ; RO:0002525 CHR:9606chr2q13 ; RO:0003303 OMIM:613862 ; - oboInOwl:hasDbXref UMLS:C1364081 ; oboInOwl:hasExactSynonym "MERTK", "mer tyrosine kinase protooncogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10461 ; - skos:exactMatch HGNC_symbol:MERTK ; + skos:exactMatch UMLS:C1364081, + HGNC:7027, + HGNC_symbol:MERTK ; biolink:category biolink:Gene . OMIM:604706 a owl:Class ; @@ -193863,7 +200268,6 @@ OMIM:604707 a owl:Class ; rdfs:label "AKR1B10" ; IAO:0000142 PMID:9565553, PMID:9765596 ; - oboInOwl:hasDbXref UMLS:C1412323 ; oboInOwl:hasExactSynonym "AKR1B10", "aldo-keto reductase family 1, member b10", "aldose reductase-like 1", @@ -193871,7 +200275,9 @@ OMIM:604707 a owl:Class ; "human small intestine reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57016 ; - skos:exactMatch HGNC_symbol:AKR1B10 ; + skos:exactMatch UMLS:C1412323, + HGNC:382, + HGNC_symbol:AKR1B10 ; biolink:category biolink:Gene . OMIM:604708 a owl:Class ; @@ -193885,7 +200291,6 @@ OMIM:604708 a owl:Class ; PMID:14983020, PMID:19412173, PMID:23467095 ; - oboInOwl:hasDbXref UMLS:C1417693 ; oboInOwl:hasExactSynonym "NFAT5", "kiaa0827", "nfat-like protein 1", @@ -193893,18 +200298,21 @@ OMIM:604708 a owl:Class ; "tonicity-responsive enhancer-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10725 ; - skos:exactMatch HGNC_symbol:NFAT5 ; + skos:exactMatch UMLS:C1417693, + HGNC:7774, + HGNC_symbol:NFAT5 ; biolink:category biolink:Gene . OMIM:604709 a owl:Class ; rdfs:label "TIAM2" ; IAO:0000142 PMID:10512681 ; - oboInOwl:hasDbXref UMLS:C1420732 ; oboInOwl:hasExactSynonym "TIAM2", "t-cell lymphoma invasion and metastasis 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26230 ; - skos:exactMatch HGNC_symbol:TIAM2 ; + skos:exactMatch UMLS:C1420732, + HGNC:11806, + HGNC_symbol:TIAM2 ; biolink:category biolink:Gene . OMIM:604710 a owl:Class ; @@ -193918,26 +200326,28 @@ OMIM:604710 a owl:Class ; PMID:9660815 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:613177 ; - oboInOwl:hasDbXref UMLS:C1416930 ; oboInOwl:hasExactSynonym "LTBP4", "latent transforming growth factor-beta-binding protein 4", "latent transforming growth factor-beta-binding protein 4, long", "latent transforming growth factor-beta-binding protein 4, short" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8425 ; - skos:exactMatch HGNC_symbol:LTBP4 ; + skos:exactMatch UMLS:C1416930, + HGNC:6717, + HGNC_symbol:LTBP4 ; biolink:category biolink:Gene . OMIM:604711 a owl:Class ; rdfs:label "UBL3" ; IAO:0000142 PMID:10375635, PMID:9799726 ; - oboInOwl:hasDbXref UMLS:C1421300 ; oboInOwl:hasExactSynonym "UBL3", "ubiquitin-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5412 ; - skos:exactMatch HGNC_symbol:UBL3 ; + skos:exactMatch UMLS:C1421300, + HGNC:12504, + HGNC_symbol:UBL3 ; biolink:category biolink:Gene . OMIM:604712 a owl:Class ; @@ -193953,11 +200363,6 @@ OMIM:604712 a owl:Class ; PMID:30439532 ; RO:0002525 CHR:9606chr8q22.3 ; RO:0003303 OMIM:268315 ; - oboInOwl:hasDbXref UMLS:C1424883, - UMLS:C2749861, - UMLS:C2751319, - UMLS:C2986382, - UMLS:C3150172 ; oboInOwl:hasExactSynonym "RRM2B", "p53-inducible and ribonucleotide reductase small subunit 2-like", "ribonucleotide reductase regulatory tp53 inducible subunit m2b", @@ -193965,7 +200370,13 @@ OMIM:604712 a owl:Class ; "ribonucleotide reductase, m2 B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50484 ; - skos:exactMatch HGNC_symbol:RRM2B ; + skos:exactMatch UMLS:C1424883, + UMLS:C2749861, + UMLS:C2751319, + UMLS:C2986382, + UMLS:C3150172, + HGNC:17296, + HGNC_symbol:RRM2B ; biolink:category biolink:Gene . OMIM:604713 a owl:Class ; @@ -193974,7 +200385,6 @@ OMIM:604713 a owl:Class ; PMID:9207134, PMID:9442024, PMID:9705843 ; - oboInOwl:hasDbXref UMLS:C1539105 ; oboInOwl:hasExactSynonym "CLEC11A", "c-type lectin domain family 11, member a", "lectin, c-type, lymphocyte-secreted long form", @@ -193982,7 +200392,9 @@ OMIM:604713 a owl:Class ; "stem cell growth factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6320 ; - skos:exactMatch HGNC_symbol:CLEC11A ; + skos:exactMatch UMLS:C1539105, + HGNC:10576, + HGNC_symbol:CLEC11A ; biolink:category biolink:Gene . OMIM:604714 a owl:Class ; @@ -193991,13 +200403,14 @@ OMIM:604714 a owl:Class ; PMID:9730615 ; RO:0002525 CHR:9606chr6q22.1 ; RO:0003303 OMIM:608800 ; - oboInOwl:hasDbXref UMLS:C1421208 ; oboInOwl:hasExactSynonym "TSPYL1", "tspy-like", "tspy-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7259 ; - skos:exactMatch HGNC_symbol:TSPYL1 ; + skos:exactMatch UMLS:C1421208, + HGNC:12382, + HGNC_symbol:TSPYL1 ; biolink:category biolink:Gene . OMIM:604716 a owl:Class ; @@ -194008,8 +200421,6 @@ OMIM:604716 a owl:Class ; PMID:1900353, PMID:19858781, PMID:23756265 ; - oboInOwl:hasDbXref UMLS:C1421334, - UMLS:C1823593 ; oboInOwl:hasExactSynonym "UGT2A1", "udp glucuronosyltransferase family 2, member a1", "udp glucuronosyltransferase family 2, member a1/a2 complex locus", @@ -194018,26 +200429,29 @@ OMIM:604716 a owl:Class ; "uridine diphosphate glycosyltransferase 2 family, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10941 ; - skos:exactMatch HGNC_symbol:UGT2A1 ; + skos:exactMatch UMLS:C1421334, + UMLS:C1823593, + HGNC:12542, + HGNC_symbol:UGT2A1 ; biolink:category biolink:Gene . OMIM:604718 a owl:Class ; rdfs:label "TTF2" ; IAO:0000142 PMID:9748214 ; - oboInOwl:hasDbXref UMLS:C1421219 ; oboInOwl:hasExactSynonym "TTF2", "transcription termination factor 2", "transcription termination factor, RNA polymerase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8458 ; - skos:exactMatch HGNC_symbol:TTF2 ; + skos:exactMatch UMLS:C1421219, + HGNC:12398, + HGNC_symbol:TTF2 ; biolink:category biolink:Gene . OMIM:604719 a owl:Class ; rdfs:label "STK16" ; IAO:0000142 PMID:10947953, PMID:9712705 ; - oboInOwl:hasDbXref UMLS:C1420467 ; oboInOwl:hasExactSynonym "STK16", "pkl12, mouse, homolog of", "serine/threonine protein kinase 16", @@ -194045,7 +200459,9 @@ OMIM:604719 a owl:Class ; "transforming growth factor-beta-stimulated factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8576 ; - skos:exactMatch HGNC_symbol:STK16 ; + skos:exactMatch UMLS:C1420467, + HGNC:11394, + HGNC_symbol:STK16 ; biolink:category biolink:Gene . OMIM:604720 a owl:Class ; @@ -194061,24 +200477,26 @@ OMIM:604720 a owl:Class ; PMID:8696333 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:604250 ; - oboInOwl:hasDbXref UMLS:C1420707 ; oboInOwl:hasExactSynonym "TFR2", "transferrin receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7036 ; - skos:exactMatch HGNC_symbol:TFR2 ; + skos:exactMatch UMLS:C1420707, + HGNC:11762, + HGNC_symbol:TFR2 ; biolink:category biolink:Gene . OMIM:604721 a owl:Class ; rdfs:label "SH2D3A" ; IAO:0000142 PMID:10187783 ; - oboInOwl:hasDbXref UMLS:C1335817 ; oboInOwl:hasExactSynonym "SH2D3A", "novel sh2-containing protein 1", "sh2 domain-containing protein 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10045 ; - skos:exactMatch HGNC_symbol:SH2D3A ; + skos:exactMatch UMLS:C1335817, + HGNC:16885, + HGNC_symbol:SH2D3A ; biolink:category biolink:Gene . OMIM:604722 a owl:Class ; @@ -194086,7 +200504,6 @@ OMIM:604722 a owl:Class ; IAO:0000142 PMID:10187783, PMID:12486027, PMID:20956287 ; - oboInOwl:hasDbXref UMLS:C1335818 ; oboInOwl:hasExactSynonym "SH2D3C", "cas/hef1-associated signal transducer", "novel sh2-containing protein 3", @@ -194095,7 +200512,9 @@ OMIM:604722 a owl:Class ; "sh2 domain-containing protein 3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10044 ; - skos:exactMatch HGNC_symbol:SH2D3C ; + skos:exactMatch UMLS:C1335818, + HGNC:16884, + HGNC_symbol:SH2D3C ; biolink:category biolink:Gene . OMIM:604723 a owl:Class ; @@ -194108,14 +200527,15 @@ OMIM:604723 a owl:Class ; PMID:7615523 ; RO:0002525 CHR:9606chr12q14.1 ; RO:0003303 OMIM:610505 ; - oboInOwl:hasDbXref UMLS:C1421196 ; oboInOwl:hasExactSynonym "TSFM", "eftsmt", "mitochondrial translation elongation factor ts", "ts translation elongation factor, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10102 ; - skos:exactMatch HGNC_symbol:TSFM ; + skos:exactMatch UMLS:C1421196, + HGNC:12367, + HGNC_symbol:TSFM ; biolink:category biolink:Gene . OMIM:604724 a owl:Class ; @@ -194128,7 +200548,6 @@ OMIM:604724 a owl:Class ; PMID:11027606, PMID:21266359, PMID:25616966 ; - oboInOwl:hasDbXref UMLS:C1367469 ; oboInOwl:hasExactSynonym "HPSE", "heparanase", "hpa", @@ -194136,31 +200555,35 @@ OMIM:604724 a owl:Class ; "hpse1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10855 ; - skos:exactMatch HGNC_symbol:HPSE ; + skos:exactMatch UMLS:C1367469, + HGNC:5164, + HGNC_symbol:HPSE ; biolink:category biolink:Gene . OMIM:604725 a owl:Class ; rdfs:label "USP2" ; IAO:0000142 PMID:9325273 ; - oboInOwl:hasDbXref UMLS:C1421397 ; oboInOwl:hasExactSynonym "USP2", "ubiquitin-specific protease 2", "ubiquitin-specific protease, 41-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9099 ; - skos:exactMatch HGNC_symbol:USP2 ; + skos:exactMatch UMLS:C1421397, + HGNC:12618, + HGNC_symbol:USP2 ; biolink:category biolink:Gene . OMIM:604726 a owl:Class ; rdfs:label "STK17A" ; IAO:0000142 PMID:9786912 ; - oboInOwl:hasDbXref UMLS:C1420468 ; oboInOwl:hasExactSynonym "STK17A", "dap kinase-related apoptosis-inducing protein kinase 1", "serine/threonine protein kinase 17a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9263 ; - skos:exactMatch HGNC_symbol:STK17A ; + skos:exactMatch UMLS:C1420468, + HGNC:11395, + HGNC_symbol:STK17A ; biolink:category biolink:Gene . OMIM:604727 a owl:Class ; @@ -194168,24 +200591,26 @@ OMIM:604727 a owl:Class ; IAO:0000142 PMID:19017948, PMID:19017949, PMID:9786912 ; - oboInOwl:hasDbXref UMLS:C1420469 ; oboInOwl:hasExactSynonym "STK17B", "dap kinase-related apoptosis-inducing protein kinase 2", "serine/threonine protein kinase 17b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9262 ; - skos:exactMatch HGNC_symbol:STK17B ; + skos:exactMatch UMLS:C1420469, + HGNC:11396, + HGNC_symbol:STK17B ; biolink:category biolink:Gene . OMIM:604728 a owl:Class ; rdfs:label "USP3" ; IAO:0000142 PMID:10480896 ; - oboInOwl:hasDbXref UMLS:C1421404 ; oboInOwl:hasExactSynonym "USP3", "ubiquitin-specific protease 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9960 ; - skos:exactMatch HGNC_symbol:USP3 ; + skos:exactMatch UMLS:C1421404, + HGNC:12626, + HGNC_symbol:USP3 ; biolink:category biolink:Gene . OMIM:604729 a owl:Class ; @@ -194194,13 +200619,14 @@ OMIM:604729 a owl:Class ; PMID:10799498, PMID:18172164, PMID:19910467 ; - oboInOwl:hasDbXref UMLS:C1421399 ; oboInOwl:hasExactSynonym "USP21", "ubiquitin-specific protease 21", "ubiquitin-specific protease 23, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27005 ; - skos:exactMatch HGNC_symbol:USP21 ; + skos:exactMatch UMLS:C1421399, + HGNC:12620, + HGNC_symbol:USP21 ; biolink:category biolink:Gene . OMIM:604730 a owl:Class ; @@ -194210,13 +200636,14 @@ OMIM:604730 a owl:Class ; PMID:19223390, PMID:19286674, PMID:9828123 ; - oboInOwl:hasDbXref UMLS:C1421243 ; oboInOwl:hasExactSynonym "TULP3", "tub-like protein 3", "tubby-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7289 ; - skos:exactMatch HGNC_symbol:TULP3 ; + skos:exactMatch UMLS:C1421243, + HGNC:12425, + HGNC_symbol:TULP3 ; biolink:category biolink:Gene . OMIM:604731 a owl:Class ; @@ -194224,25 +200651,27 @@ OMIM:604731 a owl:Class ; IAO:0000142 PMID:10444327, PMID:21947082, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1421392 ; oboInOwl:hasExactSynonym "USP15", "ubiquitin-specific protease 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9958 ; - skos:exactMatch HGNC_symbol:USP15 ; + skos:exactMatch UMLS:C1421392, + HGNC:12613, + HGNC_symbol:USP15 ; biolink:category biolink:Gene . OMIM:604732 a owl:Class ; rdfs:label "TFEC" ; IAO:0000142 PMID:8336698, PMID:9256061 ; - oboInOwl:hasDbXref UMLS:C1420700 ; oboInOwl:hasExactSynonym "TFEC", "tfecl", "transcription factor ec" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22797 ; - skos:exactMatch HGNC_symbol:TFEC ; + skos:exactMatch UMLS:C1420700, + HGNC:11754, + HGNC_symbol:TFEC ; biolink:category biolink:Gene . OMIM:604733 a owl:Class ; @@ -194254,14 +200683,15 @@ OMIM:604733 a owl:Class ; PMID:28905505 ; RO:0002525 CHR:9606chr1p12 ; RO:0003303 OMIM:619738 ; - oboInOwl:hasDbXref UMLS:C1421477 ; oboInOwl:hasExactSynonym "WARS2", "mitochondrial trprs", "tryptophanyl-trna synthetase 2", "tryptophanyl-trna synthetase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10352 ; - skos:exactMatch HGNC_symbol:WARS2 ; + skos:exactMatch UMLS:C1421477, + HGNC:12730, + HGNC_symbol:WARS2 ; biolink:category biolink:Gene . OMIM:604734 a owl:Class ; @@ -194278,14 +200708,15 @@ OMIM:604734 a owl:Class ; PMID:31471458 ; RO:0002525 CHR:9606chr4p16.1 ; RO:0003303 OMIM:150550 ; - oboInOwl:hasDbXref UMLS:C0272174, - UMLS:C1421493 ; oboInOwl:hasExactSynonym "WDR1", "actin-interacting protein 1", "wd repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9948 ; - skos:exactMatch HGNC_symbol:WDR1 ; + skos:exactMatch UMLS:C0272174, + UMLS:C1421493, + HGNC:12754, + HGNC_symbol:WDR1 ; biolink:category biolink:Gene . OMIM:604735 a owl:Class ; @@ -194294,13 +200725,14 @@ OMIM:604735 a owl:Class ; PMID:17914355, PMID:20170901, PMID:24025767 ; - oboInOwl:hasDbXref UMLS:C1421393 ; oboInOwl:hasExactSynonym "USP16", "ubiquitin-specific protease 16", "ubpm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10600 ; - skos:exactMatch HGNC_symbol:USP16 ; + skos:exactMatch UMLS:C1421393, + HGNC:12614, + HGNC_symbol:USP16 ; biolink:category biolink:Gene . OMIM:604736 a owl:Class ; @@ -194309,25 +200741,27 @@ OMIM:604736 a owl:Class ; PMID:10644437, PMID:11597335, PMID:18538659 ; - oboInOwl:hasDbXref UMLS:C1421402 ; oboInOwl:hasExactSynonym "USP25", "ubiquitin-specific protease 25", "ubiquitin-specific protease on chromosome 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29761 ; - skos:exactMatch HGNC_symbol:USP25 ; + skos:exactMatch UMLS:C1421402, + HGNC:12624, + HGNC_symbol:USP25 ; biolink:category biolink:Gene . OMIM:604737 a owl:Class ; rdfs:label "WDR3" ; IAO:0000142 PMID:10395803, PMID:9628821 ; - oboInOwl:hasDbXref UMLS:C1421494 ; oboInOwl:hasExactSynonym "WDR3", "wd repeat-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10885 ; - skos:exactMatch HGNC_symbol:WDR3 ; + skos:exactMatch UMLS:C1421494, + HGNC:12755, + HGNC_symbol:WDR3 ; biolink:category biolink:Gene . OMIM:604738 a owl:Class ; @@ -194342,20 +200776,20 @@ OMIM:604738 a owl:Class ; PMID:17404233, PMID:27926729, PMID:8574748 ; - oboInOwl:hasDbXref UMLS:C1332703 ; oboInOwl:hasExactSynonym "CCR9", "chemokine, cc motif, receptor 9", "gpr-9-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10803 ; - skos:exactMatch HGNC_symbol:CCR9 ; + skos:exactMatch UMLS:C1332703, + HGNC:1610, + HGNC_symbol:CCR9 ; biolink:category biolink:Gene . OMIM:604739 a owl:Class ; rdfs:label "RBM39" ; IAO:0000142 PMID:11704680, PMID:8227358 ; - oboInOwl:hasDbXref UMLS:C1826781 ; oboInOwl:hasExactSynonym "RBM39", "coactivator of activator protein 1 and estrogen receptors", "hcc1.3", @@ -194365,7 +200799,9 @@ OMIM:604739 a owl:Class ; "splicing factor hcc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9584 ; - skos:exactMatch HGNC_symbol:RBM39 ; + skos:exactMatch UMLS:C1826781, + HGNC:15923, + HGNC_symbol:RBM39 ; biolink:category biolink:Gene . OMIM:604740 a owl:Class ; @@ -194375,14 +200811,15 @@ OMIM:604740 a owl:Class ; PMID:16153295, PMID:9598307, PMID:9784581 ; - oboInOwl:hasDbXref UMLS:C1421585 ; oboInOwl:hasExactSynonym "SLC39A1", "solute carrier family 39 (zinc transporter), member 1", "zinc/iron-regulated transporter-like", "zrt- and irt-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27173 ; - skos:exactMatch HGNC_symbol:SLC39A1 ; + skos:exactMatch UMLS:C1421585, + HGNC:12876, + HGNC_symbol:SLC39A1 ; biolink:category biolink:Gene . OMIM:604741 a owl:Class ; @@ -194396,7 +200833,6 @@ OMIM:604741 a owl:Class ; PMID:8707100 ; RO:0002525 CHR:9606chr7q33 ; RO:0003303 OMIM:235555 ; - oboInOwl:hasDbXref UMLS:C1412328 ; oboInOwl:hasExactSynonym "5-beta-reductase", "AKR1D1", "aldo-keto reductase family 1, member d1", @@ -194404,7 +200840,9 @@ OMIM:604741 a owl:Class ; "steroid 5-beta-reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6718 ; - skos:exactMatch HGNC_symbol:AKR1D1 ; + skos:exactMatch UMLS:C1412328, + HGNC:388, + HGNC_symbol:AKR1D1 ; biolink:category biolink:Gene . OMIM:604742 a owl:Class ; @@ -194416,7 +200854,6 @@ OMIM:604742 a owl:Class ; PMID:23202126, PMID:9205841, PMID:9747029 ; - oboInOwl:hasDbXref UMLS:C1413927 ; oboInOwl:hasExactSynonym "DCLK1", "camk-like creb regulatory kinase 1", "doublecortin- and calmodulin kinase-like 1", @@ -194424,7 +200861,9 @@ OMIM:604742 a owl:Class ; "kiaa0369" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9201 ; - skos:exactMatch HGNC_symbol:DCLK1 ; + skos:exactMatch UMLS:C1413927, + HGNC:2700, + HGNC_symbol:DCLK1 ; biolink:category biolink:Gene . OMIM:604743 a owl:Class ; @@ -194434,12 +200873,13 @@ OMIM:604743 a owl:Class ; PMID:12952847, PMID:14638548, PMID:17273169 ; - oboInOwl:hasDbXref UMLS:C1413939 ; oboInOwl:hasExactSynonym "DDAH1", "dimethylarginine dimethylaminohydrolase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23576 ; - skos:exactMatch HGNC_symbol:DDAH1 ; + skos:exactMatch UMLS:C1413939, + HGNC:2715, + HGNC_symbol:DDAH1 ; biolink:category biolink:Gene . OMIM:604744 a owl:Class ; @@ -194447,35 +200887,38 @@ OMIM:604744 a owl:Class ; IAO:0000142 PMID:10493931, PMID:10950934, PMID:12927816 ; - oboInOwl:hasDbXref UMLS:C1413940 ; oboInOwl:hasExactSynonym "DDAH2", "dimethylarginine dimethylaminohydrolase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23564 ; - skos:exactMatch HGNC_symbol:DDAH2 ; + skos:exactMatch UMLS:C1413940, + HGNC:2716, + HGNC_symbol:DDAH2 ; biolink:category biolink:Gene . OMIM:604745 a owl:Class ; rdfs:label "TCFL5" ; IAO:0000142 PMID:9763657 ; - oboInOwl:hasDbXref UMLS:C1420648 ; oboInOwl:hasExactSynonym "TCFL5", "transcription factor-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10732 ; - skos:exactMatch HGNC_symbol:TCFL5 ; + skos:exactMatch UMLS:C1420648, + HGNC:11646, + HGNC_symbol:TCFL5 ; biolink:category biolink:Gene . OMIM:604746 a owl:Class ; rdfs:label "TESK2" ; IAO:0000142 PMID:10512679 ; - oboInOwl:hasDbXref UMLS:C1420689 ; oboInOwl:hasExactSynonym "TESK2", "testis-associated actin-modeling kinase 2", "testis-specific protein kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10420 ; - skos:exactMatch HGNC_symbol:TESK2 ; + skos:exactMatch UMLS:C1420689, + HGNC:11732, + HGNC_symbol:TESK2 ; biolink:category biolink:Gene . OMIM:604748 a owl:Class ; @@ -194485,14 +200928,15 @@ OMIM:604748 a owl:Class ; PMID:1733807, PMID:9421502, PMID:9524265 ; - oboInOwl:hasDbXref UMLS:C1420319 ; oboInOwl:hasExactSynonym "SOX13", "islet cell antibody 12", "sry-box 13", "sry-related hmg-box gene 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9580 ; - skos:exactMatch HGNC_symbol:SOX13 ; + skos:exactMatch UMLS:C1420319, + HGNC:11192, + HGNC_symbol:SOX13 ; biolink:category biolink:Gene . OMIM:604749 a owl:Class ; @@ -194500,7 +200944,6 @@ OMIM:604749 a owl:Class ; IAO:0000142 PMID:7865130, PMID:8617494, PMID:9570955 ; - oboInOwl:hasDbXref UMLS:C1421575 ; oboInOwl:hasExactSynonym "ZNF235", "hzf6", "zinc finger protein 235", @@ -194508,70 +200951,77 @@ OMIM:604749 a owl:Class ; "zinc finger protein 93, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9310 ; - skos:exactMatch HGNC_symbol:ZNF235 ; + skos:exactMatch UMLS:C1421575, + HGNC:12866, + HGNC_symbol:ZNF235 ; biolink:category biolink:Gene . OMIM:604750 a owl:Class ; rdfs:label "ZNF234" ; IAO:0000142 PMID:7865130 ; - oboInOwl:hasDbXref UMLS:C1421722 ; oboInOwl:hasExactSynonym "ZNF234", "hzf4", "zinc finger protein 234", "zinc finger protein 269" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10780 ; - skos:exactMatch HGNC_symbol:ZNF234 ; + skos:exactMatch UMLS:C1421722, + HGNC:13027, + HGNC_symbol:ZNF234 ; biolink:category biolink:Gene . OMIM:604751 a owl:Class ; rdfs:label "ZNF266" ; IAO:0000142 PMID:7865130 ; - oboInOwl:hasDbXref UMLS:C1421753 ; oboInOwl:hasExactSynonym "ZNF266", "hzf1", "zinc finger protein 266" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10781 ; - skos:exactMatch HGNC_symbol:ZNF266 ; + skos:exactMatch UMLS:C1421753, + HGNC:13059, + HGNC_symbol:ZNF266 ; biolink:category biolink:Gene . OMIM:604752 a owl:Class ; rdfs:label "ZNF267" ; IAO:0000142 PMID:7865130 ; - oboInOwl:hasDbXref UMLS:C1421754 ; oboInOwl:hasExactSynonym "ZNF267", "hzf2", "zinc finger protein 267" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10308 ; - skos:exactMatch HGNC_symbol:ZNF267 ; + skos:exactMatch UMLS:C1421754, + HGNC:13060, + HGNC_symbol:ZNF267 ; biolink:category biolink:Gene . OMIM:604755 a owl:Class ; rdfs:label "ZNF272" ; IAO:0000142 PMID:15004467, PMID:7865130 ; - oboInOwl:hasDbXref UMLS:C1823977 ; oboInOwl:hasExactSynonym "ZNF272", "hzf8", "zinc finger protein 272", "znf460" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10794 ; - skos:exactMatch HGNC_symbol:ZNF460 ; + skos:exactMatch UMLS:C1823977, + HGNC:21628, + HGNC_symbol:ZNF460 ; biolink:category biolink:Gene . OMIM:604756 a owl:Class ; rdfs:label "ZNF273" ; IAO:0000142 PMID:7865130 ; - oboInOwl:hasDbXref UMLS:C1421759 ; oboInOwl:hasExactSynonym "ZNF273", "hzf9", "zinc finger protein 273" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10793 ; - skos:exactMatch HGNC_symbol:ZNF273 ; + skos:exactMatch UMLS:C1421759, + HGNC:13067, + HGNC_symbol:ZNF273 ; biolink:category biolink:Gene . OMIM:604757 a owl:Class ; @@ -194584,11 +201034,11 @@ OMIM:604757 a owl:Class ; PMID:8106171, PMID:8357019, PMID:8499900 ; - oboInOwl:hasDbXref UMLS:C1858160 ; oboInOwl:hasExactSynonym "CRS2", "craniosynostosis 2", "craniosynostosis, boston-type" ; rdfs:subClassOf OMIMPS:123100 ; + skos:exactMatch UMLS:C1858160 ; biolink:category biolink:Disease . OMIM:604758 a owl:Class ; @@ -194602,14 +201052,15 @@ OMIM:604758 a owl:Class ; PMID:8183565 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:617585 ; - oboInOwl:hasDbXref UMLS:C1419336 ; oboInOwl:hasExactSynonym "RELB", "irel", "relb protooncogene, nfkb-subunit", "v-rel avian reticuloendotheliosis viral oncogene homolog B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5971 ; - skos:exactMatch HGNC_symbol:RELB ; + skos:exactMatch UMLS:C1419336, + HGNC:9956, + HGNC_symbol:RELB ; biolink:category biolink:Gene . OMIM:604759 a owl:Class ; @@ -194623,14 +201074,15 @@ OMIM:604759 a owl:Class ; PMID:9285814 ; RO:0002525 CHR:9606chr12q23.2 ; RO:0003303 OMIM:270960 ; - oboInOwl:hasDbXref UMLS:C1425334 ; oboInOwl:hasExactSynonym "SYCP3", "cor1", "scp3", "synaptonemal complex protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50511 ; - skos:exactMatch HGNC_symbol:SYCP3 ; + skos:exactMatch UMLS:C1425334, + HGNC:18130, + HGNC_symbol:SYCP3 ; biolink:category biolink:Gene . OMIM:604760 a owl:Class ; @@ -194639,27 +201091,29 @@ OMIM:604760 a owl:Class ; PMID:12906866, PMID:7865130, PMID:9299475 ; - oboInOwl:hasDbXref UMLS:C1421723 ; oboInOwl:hasExactSynonym "ZNF236", "zinc finger protein 236", "znf236a", "znf236b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7776 ; - skos:exactMatch HGNC_symbol:ZNF236 ; + skos:exactMatch UMLS:C1421723, + HGNC:13028, + HGNC_symbol:ZNF236 ; biolink:category biolink:Gene . OMIM:604761 a owl:Class ; rdfs:label "ZFAND5" ; IAO:0000142 PMID:9758550 ; - oboInOwl:hasDbXref UMLS:C1823944 ; oboInOwl:hasExactSynonym "ZFAND5", "an1-type zinc finger domain-containing protein 5", "zinc finger an1 domain-containing protein 5", "zinc finger protein 216" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7763 ; - skos:exactMatch HGNC_symbol:ZFAND5 ; + skos:exactMatch UMLS:C1823944, + HGNC:13008, + HGNC_symbol:ZFAND5 ; biolink:category biolink:Gene . OMIM:604762 a owl:Class ; @@ -194670,12 +201124,13 @@ OMIM:604762 a owl:Class ; PMID:11961559, PMID:16845395, PMID:9642267 ; - oboInOwl:hasDbXref UMLS:C1858156 ; oboInOwl:hasExactSynonym "swap70", "switch-associated protein 70" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23075 ; - skos:exactMatch HGNC_symbol:SWAP70 ; + skos:exactMatch UMLS:C1858156, + HGNC:17070, + HGNC_symbol:SWAP70 ; biolink:category biolink:Gene . OMIM:604763 a owl:Class ; @@ -194688,8 +201143,6 @@ OMIM:604763 a owl:Class ; PMID:19734946, PMID:23885121, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1422475, - UMLS:C1858155 ; oboInOwl:hasExactSynonym "ARHGEF12", "kiaa0382", "larg/mll fusion gene", @@ -194698,18 +201151,22 @@ OMIM:604763 a owl:Class ; "rho guanine nucleotide exchange factor, leukemia-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23365 ; - skos:exactMatch HGNC_symbol:ARHGEF12 ; + skos:exactMatch UMLS:C1422475, + UMLS:C1858155, + HGNC:14193, + HGNC_symbol:ARHGEF12 ; biolink:category biolink:Gene . OMIM:604764 a owl:Class ; rdfs:label "ZHX1" ; IAO:0000142 PMID:10441475 ; - oboInOwl:hasDbXref UMLS:C1421580 ; oboInOwl:hasExactSynonym "ZHX1", "zinc finger and homeodomain protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11244 ; - skos:exactMatch HGNC_symbol:ZHX1 ; + skos:exactMatch UMLS:C1421580, + HGNC:12871, + HGNC_symbol:ZHX1 ; biolink:category biolink:Gene . OMIM:604765 a owl:Class ; @@ -194722,11 +201179,11 @@ OMIM:604765 a owl:Class ; PMID:24200904, PMID:27532257, PMID:31718026 ; - oboInOwl:hasDbXref UMLS:C1858154, - ORPHA:154 ; oboInOwl:hasExactSynonym "CMD1I", "cardiomyopathy, dilated, 1i" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1858154, + ORPHA:154 ; biolink:category biolink:Disease . OMIM:604766 a owl:Class ; @@ -194749,38 +201206,41 @@ OMIM:604766 a owl:Class ; PMID:8606597 ; RO:0002525 CHR:9606chr1q25.2 ; RO:0003303 OMIM:600995 ; - oboInOwl:hasDbXref UMLS:C1421972 ; oboInOwl:hasExactSynonym "NPHS2", "nphs2 stomatin family member, podocin", "podocin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7827 ; - skos:exactMatch HGNC_symbol:NPHS2 ; + skos:exactMatch UMLS:C1421972, + HGNC:13394, + HGNC_symbol:NPHS2 ; biolink:category biolink:Gene . OMIM:604767 a owl:Class ; rdfs:label "DEC1" ; IAO:0000142 PMID:10612805, PMID:8603412 ; - oboInOwl:hasDbXref UMLS:C1333212 ; oboInOwl:hasExactSynonym "DEC1", "deleted 1n esophageal cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50514 ; - skos:exactMatch HGNC_symbol:DELEC1 ; + skos:exactMatch UMLS:C1333212, + HGNC:23658, + HGNC_symbol:DELEC1 ; biolink:category biolink:Gene . OMIM:604768 a owl:Class ; rdfs:label "ZNF254" ; IAO:0000142 PMID:10585455, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1421742 ; oboInOwl:hasExactSynonym "ZNF254", "zinc finger protein 254", "zinc finger protein 91-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9534 ; - skos:exactMatch HGNC_symbol:ZNF254 ; + skos:exactMatch UMLS:C1421742, + HGNC:13047, + HGNC_symbol:ZNF254 ; biolink:category biolink:Gene . OMIM:604769 a owl:Class ; @@ -194791,35 +201251,37 @@ OMIM:604769 a owl:Class ; PMID:18195003, PMID:2210385, PMID:7733872 ; - oboInOwl:hasDbXref UMLS:C1418881 ; oboInOwl:hasExactSynonym "PRDX3", "antioxidant protein 1", "peroxiredoxin 3", "prx3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10935 ; - skos:exactMatch HGNC_symbol:PRDX3 ; + skos:exactMatch UMLS:C1418881, + HGNC:9354, + HGNC_symbol:PRDX3 ; biolink:category biolink:Gene . OMIM:604770 a owl:Class ; rdfs:label "ACAA2" ; IAO:0000142 PMID:8241273 ; - oboInOwl:hasDbXref UMLS:C1412103 ; oboInOwl:hasExactSynonym "3-oxoacyl-coa thiolase, mitochondrial", "ACAA2", "acetyl-coa acyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10449 ; - skos:exactMatch HGNC_symbol:ACAA2 ; + skos:exactMatch UMLS:C1412103, + HGNC:83, + HGNC_symbol:ACAA2 ; biolink:category biolink:Gene . OMIM:604771 a owl:Class ; rdfs:label "polycystic bone disease" ; IAO:0000142 PMID:10457258, PMID:10703941 ; - oboInOwl:hasDbXref UMLS:C1858143 ; oboInOwl:hasExactSynonym "pcbd", - "polycystic bone disease" . + "polycystic bone disease" ; + skos:exactMatch UMLS:C1858143 . OMIM:604773 a owl:Class ; rdfs:label "ACAD8" ; @@ -194830,12 +201292,13 @@ OMIM:604773 a owl:Class ; PMID:9889013 ; RO:0002525 CHR:9606chr11q25 ; RO:0003303 OMIM:611283 ; - oboInOwl:hasDbXref UMLS:C1412106 ; oboInOwl:hasExactSynonym "ACAD8", "acyl-coa dehydrogenase family, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27034 ; - skos:exactMatch HGNC_symbol:ACAD8 ; + skos:exactMatch UMLS:C1412106, + HGNC:87, + HGNC_symbol:ACAD8 ; biolink:category biolink:Gene . OMIM:604774 a owl:Class ; @@ -194858,13 +201321,14 @@ OMIM:604774 a owl:Class ; PMID:9508071 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:605019 ; - oboInOwl:hasDbXref UMLS:C1412401 ; oboInOwl:hasExactSynonym "ANGPTL3", "angiopoietin 5", "angiopoietin-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27329 ; - skos:exactMatch HGNC_symbol:ANGPTL3 ; + skos:exactMatch UMLS:C1412401, + HGNC:491, + HGNC_symbol:ANGPTL3 ; biolink:category biolink:Gene . OMIM:604775 a owl:Class ; @@ -194901,14 +201365,15 @@ OMIM:604775 a owl:Class ; PMID:9511734 ; RO:0002525 CHR:9606chr8q21.11 ; RO:0003303 OMIM:615040 ; - oboInOwl:hasDbXref UMLS:C1412407, - UMLS:C3808667 ; oboInOwl:hasExactSynonym "TRPA1", "ankyrin-like protein with transmembrane domains 1", "transient receptor potential cation channel, subfamily a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8989 ; - skos:exactMatch HGNC_symbol:TRPA1 ; + skos:exactMatch UMLS:C1412407, + UMLS:C3808667, + HGNC:497, + HGNC_symbol:TRPA1 ; biolink:category biolink:Gene . OMIM:604776 a owl:Class ; @@ -194916,35 +201381,38 @@ OMIM:604776 a owl:Class ; IAO:0000142 PMID:10610182, PMID:12244309, PMID:3456344 ; - oboInOwl:hasDbXref UMLS:C1415580 ; oboInOwl:hasExactSynonym "HLA-DRB5", "major histocompatibility complex, class ii, dr beta-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3127 ; - skos:exactMatch HGNC_symbol:HLA-DRB5 ; + skos:exactMatch UMLS:C1415580, + HGNC:4953, + HGNC_symbol:HLA-DRB5 ; biolink:category biolink:Gene . OMIM:604778 a owl:Class ; rdfs:label "ADAM29" ; IAO:0000142 PMID:10512762, PMID:10644455 ; - oboInOwl:hasDbXref UMLS:C1412198 ; oboInOwl:hasExactSynonym "ADAM29", "a disintegrin and metalloproteinase domain 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11086 ; - skos:exactMatch HGNC_symbol:ADAM29 ; + skos:exactMatch UMLS:C1412198, + HGNC:207, + HGNC_symbol:ADAM29 ; biolink:category biolink:Gene . OMIM:604779 a owl:Class ; rdfs:label "ADAM30" ; IAO:0000142 PMID:10512762 ; - oboInOwl:hasDbXref UMLS:C1412199 ; oboInOwl:hasExactSynonym "ADAM30", "a disintegrin and metalloproteinase domain 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11085 ; - skos:exactMatch HGNC_symbol:ADAM30 ; + skos:exactMatch UMLS:C1412199, + HGNC:208, + HGNC_symbol:ADAM30 ; biolink:category biolink:Gene . OMIM:604780 a owl:Class ; @@ -194957,15 +201425,16 @@ OMIM:604780 a owl:Class ; PMID:21393244 ; RO:0002525 CHR:9606chr3p21.33 ; RO:0003303 OMIM:275630 ; - oboInOwl:hasDbXref UMLS:C0268238, - UMLS:C1427541 ; oboInOwl:hasExactSynonym "ABHD5", "abhydrolase domain-containing protein 5, lysophosphatidic acid acyltransferase", "comparative gene identification 58", "ncie2 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51099 ; - skos:exactMatch HGNC_symbol:ABHD5 ; + skos:exactMatch UMLS:C0268238, + UMLS:C1427541, + HGNC:21396, + HGNC_symbol:ABHD5 ; biolink:category biolink:Gene . OMIM:604781 a owl:Class ; @@ -194978,7 +201447,6 @@ OMIM:604782 a owl:Class ; PMID:12670868, PMID:24619213, PMID:26886794 ; - oboInOwl:hasDbXref UMLS:C1412580 ; oboInOwl:hasExactSynonym "ASH2L", "ash2", "ash2-like", @@ -194988,19 +201456,22 @@ OMIM:604782 a owl:Class ; "drosophila ash2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9070 ; - skos:exactMatch HGNC_symbol:ASH2L ; + skos:exactMatch UMLS:C1412580, + HGNC:744, + HGNC_symbol:ASH2L ; biolink:category biolink:Gene . OMIM:604783 a owl:Class ; rdfs:label "CLPTM1" ; IAO:0000142 PMID:29395912, PMID:9828125 ; - oboInOwl:hasDbXref UMLS:C1413507 ; oboInOwl:hasExactSynonym "CLPTM1", "cleft 51p and palate-associated transmembrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1209 ; - skos:exactMatch HGNC_symbol:CLPTM1 ; + skos:exactMatch UMLS:C1413507, + HGNC:2087, + HGNC_symbol:CLPTM1 ; biolink:category biolink:Gene . OMIM:604784 a owl:Class ; @@ -195008,12 +201479,13 @@ OMIM:604784 a owl:Class ; IAO:0000142 PMID:19478184, PMID:8566795, PMID:9441762 ; - oboInOwl:hasDbXref UMLS:C1420624 ; oboInOwl:hasExactSynonym "TCEA2", "transcription elongation factor a, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6919 ; - skos:exactMatch HGNC_symbol:TCEA2 ; + skos:exactMatch UMLS:C1420624, + HGNC:11614, + HGNC_symbol:TCEA2 ; biolink:category biolink:Gene . OMIM:604785 a owl:Class ; @@ -195021,13 +201493,14 @@ OMIM:604785 a owl:Class ; IAO:0000142 PMID:17952117, PMID:21278790, PMID:9806841 ; - oboInOwl:hasDbXref UMLS:C1413798 ; oboInOwl:hasExactSynonym "CTNNAL1", "catenin, alpha-like, 1", "catulin, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8727 ; - skos:exactMatch HGNC_symbol:CTNNAL1 ; + skos:exactMatch UMLS:C1413798, + HGNC:2512, + HGNC_symbol:CTNNAL1 ; biolink:category biolink:Gene . OMIM:604786 a owl:Class ; @@ -195038,26 +201511,28 @@ OMIM:604786 a owl:Class ; PMID:17095657, PMID:8195219, PMID:9761722 ; - oboInOwl:hasDbXref UMLS:C1538929 ; oboInOwl:hasExactSynonym "ARL4A", "adp-ribosylation factor-like 4", "adp-ribosylation factor-like gtpase 4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10124 ; - skos:exactMatch HGNC_symbol:ARL4A ; + skos:exactMatch UMLS:C1538929, + HGNC:695, + HGNC_symbol:ARL4A ; biolink:category biolink:Gene . OMIM:604787 a owl:Class ; rdfs:label "ARL4C" ; IAO:0000142 PMID:10462049, PMID:20720541 ; - oboInOwl:hasDbXref UMLS:C1824201 ; oboInOwl:hasExactSynonym "ARL4C", "adp-ribosylation factor-like 7", "adp-ribosylation factor-like gtpase 4c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10123 ; - skos:exactMatch HGNC_symbol:ARL4C ; + skos:exactMatch UMLS:C1824201, + HGNC:698, + HGNC_symbol:ARL4C ; biolink:category biolink:Gene . OMIM:604788 a owl:Class ; @@ -195069,7 +201544,6 @@ OMIM:604788 a owl:Class ; PMID:14966270, PMID:18358808, PMID:18614019 ; - oboInOwl:hasDbXref UMLS:C1419774 ; oboInOwl:hasExactSynonym "RUVBL2", "erythrocyte cytosolic protein, 51-kd", "reptin", @@ -195079,19 +201553,22 @@ OMIM:604788 a owl:Class ; "tip49b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10856 ; - skos:exactMatch HGNC_symbol:RUVBL2 ; + skos:exactMatch UMLS:C1419774, + HGNC:10475, + HGNC_symbol:RUVBL2 ; biolink:category biolink:Gene . OMIM:604789 a owl:Class ; rdfs:label "ITGA11" ; IAO:0000142 PMID:10464311, PMID:10486209 ; - oboInOwl:hasDbXref UMLS:C1416483 ; oboInOwl:hasExactSynonym "ITGA11", "integrin, alpha-11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22801 ; - skos:exactMatch HGNC_symbol:ITGA11 ; + skos:exactMatch UMLS:C1416483, + HGNC:6136, + HGNC_symbol:ITGA11 ; biolink:category biolink:Gene . OMIM:604790 a owl:Class ; @@ -195101,14 +201578,15 @@ OMIM:604790 a owl:Class ; PMID:10774719, PMID:17108952, PMID:20972434 ; - oboInOwl:hasDbXref UMLS:C1423054 ; oboInOwl:hasExactSynonym "TAS2R14", "t2r14", "taste receptor, iia 2, member 14", "taste receptor, family b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50840 ; - skos:exactMatch HGNC_symbol:TAS2R14 ; + skos:exactMatch UMLS:C1423054, + HGNC:14920, + HGNC_symbol:TAS2R14 ; biolink:category biolink:Gene . OMIM:604791 a owl:Class ; @@ -195122,14 +201600,15 @@ OMIM:604791 a owl:Class ; PMID:16086309, PMID:17108952, PMID:20972434 ; - oboInOwl:hasDbXref UMLS:C1423052 ; oboInOwl:hasExactSynonym "TAS2R10", "t2r10", "taste receptor, iia 2, member 10", "taste receptor, family b, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50839 ; - skos:exactMatch HGNC_symbol:TAS2R10 ; + skos:exactMatch UMLS:C1423052, + HGNC:14918, + HGNC_symbol:TAS2R10 ; biolink:category biolink:Gene . OMIM:604792 a owl:Class ; @@ -195137,14 +201616,15 @@ OMIM:604792 a owl:Class ; IAO:0000142 PMID:10761934, PMID:10766242, PMID:10774719 ; - oboInOwl:hasDbXref UMLS:C1423053 ; oboInOwl:hasExactSynonym "TAS2R13", "t2r13", "taste receptor, iia 2, member 13", "taste receptor, family b, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50838 ; - skos:exactMatch HGNC_symbol:TAS2R13 ; + skos:exactMatch UMLS:C1423053, + HGNC:14919, + HGNC_symbol:TAS2R13 ; biolink:category biolink:Gene . OMIM:604793 a owl:Class ; @@ -195152,14 +201632,15 @@ OMIM:604793 a owl:Class ; IAO:0000142 PMID:10761934, PMID:10766242, PMID:10774719 ; - oboInOwl:hasDbXref UMLS:C1423049 ; oboInOwl:hasExactSynonym "TAS2R7", "t2r7", "taste receptor, iia 2, member 7", "taste receptor, family b, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50837 ; - skos:exactMatch HGNC_symbol:TAS2R7 ; + skos:exactMatch UMLS:C1423049, + HGNC:14913, + HGNC_symbol:TAS2R7 ; biolink:category biolink:Gene . OMIM:604794 a owl:Class ; @@ -195167,14 +201648,15 @@ OMIM:604794 a owl:Class ; IAO:0000142 PMID:10761934, PMID:10766242, PMID:10774719 ; - oboInOwl:hasDbXref UMLS:C1423050 ; oboInOwl:hasExactSynonym "TAS2R8", "t2r8", "taste receptor, iia 2, member 8", "taste receptor, family b, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50836 ; - skos:exactMatch HGNC_symbol:TAS2R8 ; + skos:exactMatch UMLS:C1423050, + HGNC:14915, + HGNC_symbol:TAS2R8 ; biolink:category biolink:Gene . OMIM:604795 a owl:Class ; @@ -195182,14 +201664,15 @@ OMIM:604795 a owl:Class ; IAO:0000142 PMID:10761934, PMID:10766242, PMID:10774719 ; - oboInOwl:hasDbXref UMLS:C1423051 ; oboInOwl:hasExactSynonym "TAS2R9", "t2r9", "taste receptor, iia 2, member 9", "taste receptor, family b, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50835 ; - skos:exactMatch HGNC_symbol:TAS2R9 ; + skos:exactMatch UMLS:C1423051, + HGNC:14917, + HGNC_symbol:TAS2R9 ; biolink:category biolink:Gene . OMIM:604796 a owl:Class ; @@ -195199,14 +201682,15 @@ OMIM:604796 a owl:Class ; PMID:10774719, PMID:15496549, PMID:17108952 ; - oboInOwl:hasDbXref UMLS:C1423045 ; oboInOwl:hasExactSynonym "TAS2R1", "t2r1", "taste receptor, iia 2, member 1", "taste receptor, family b, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50834 ; - skos:exactMatch HGNC_symbol:TAS2R1 ; + skos:exactMatch UMLS:C1423045, + HGNC:14909, + HGNC_symbol:TAS2R1 ; biolink:category biolink:Gene . OMIM:604797 a owl:Class ; @@ -195214,13 +201698,14 @@ OMIM:604797 a owl:Class ; IAO:0000142 PMID:10403781, PMID:17187054, PMID:20022958 ; - oboInOwl:hasDbXref UMLS:C1412473 ; oboInOwl:hasExactSynonym "APOBEC2", "apobec1-like", "apolipoprotein B mrna-editing enzyme, catalytic polypeptide-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10930 ; - skos:exactMatch HGNC_symbol:APOBEC2 ; + skos:exactMatch UMLS:C1412473, + HGNC:605, + HGNC_symbol:APOBEC2 ; biolink:category biolink:Gene . OMIM:604798 a owl:Class ; @@ -195241,7 +201726,6 @@ OMIM:604798 a owl:Class ; PMID:9069287, PMID:9808458, PMID:9808459 ; - oboInOwl:hasDbXref UMLS:C1424986 ; oboInOwl:hasExactSynonym "HOMER1", "homer", "homer scaffold protein 1", @@ -195251,7 +201735,9 @@ OMIM:604798 a owl:Class ; "homer1c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9456 ; - skos:exactMatch HGNC_symbol:HOMER1 ; + skos:exactMatch UMLS:C1424986, + HGNC:17512, + HGNC_symbol:HOMER1 ; biolink:category biolink:Gene . OMIM:604799 a owl:Class ; @@ -195267,8 +201753,6 @@ OMIM:604799 a owl:Class ; PMID:9808459 ; RO:0002525 CHR:9606chr15q25.2 ; RO:0003303 OMIM:616707 ; - oboInOwl:hasDbXref UMLS:C1424987, - UMLS:C4225240 ; oboInOwl:hasExactSynonym "HOMER2", "homer scaffold protein 2", "homer, drosophila, homolog of, 2", @@ -195276,7 +201760,10 @@ OMIM:604799 a owl:Class ; "homer2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9455 ; - skos:exactMatch HGNC_symbol:HOMER2 ; + skos:exactMatch UMLS:C1424987, + UMLS:C4225240, + HGNC:17513, + HGNC_symbol:HOMER2 ; biolink:category biolink:Gene . OMIM:604800 a owl:Class ; @@ -195287,20 +201774,20 @@ OMIM:604800 a owl:Class ; PMID:9069287, PMID:9808458, PMID:9808459 ; - oboInOwl:hasDbXref UMLS:C1424988 ; oboInOwl:hasExactSynonym "HOMER3", "homer scaffold protein 3", "homer, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9454 ; - skos:exactMatch HGNC_symbol:HOMER3 ; + skos:exactMatch UMLS:C1424988, + HGNC:17514, + HGNC_symbol:HOMER3 ; biolink:category biolink:Gene . OMIM:604803 a owl:Class ; rdfs:label "DOP1B" ; IAO:0000142 PMID:10231032, PMID:10950924 ; - oboInOwl:hasDbXref UMLS:C1876213 ; oboInOwl:hasExactSynonym "DOP1B", "chromosome 21 open reading frame 5", "dop1 leucine zipper-like protein B", @@ -195308,30 +201795,34 @@ OMIM:604803 a owl:Class ; "patterning defective 1, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9980 ; - skos:exactMatch HGNC_symbol:DOP1B ; + skos:exactMatch UMLS:C1876213, + HGNC:1291, + HGNC_symbol:DOP1B ; biolink:category biolink:Gene . OMIM:604806 a owl:Class ; rdfs:label "FLRT1" ; IAO:0000142 PMID:10644439 ; - oboInOwl:hasDbXref UMLS:C1414640 ; oboInOwl:hasExactSynonym "FLRT1", "fibronectin-like domain-containing leucine-rich transmembrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23769 ; - skos:exactMatch HGNC_symbol:FLRT1 ; + skos:exactMatch UMLS:C1414640, + HGNC:3760, + HGNC_symbol:FLRT1 ; biolink:category biolink:Gene . OMIM:604807 a owl:Class ; rdfs:label "FLRT2" ; IAO:0000142 PMID:10644439, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1414641 ; oboInOwl:hasExactSynonym "FLRT2", "fibronectin-like domain-containing leucine-rich transmembrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23768 ; - skos:exactMatch HGNC_symbol:FLRT2 ; + skos:exactMatch UMLS:C1414641, + HGNC:3761, + HGNC_symbol:FLRT2 ; biolink:category biolink:Gene . OMIM:604808 a owl:Class ; @@ -195346,12 +201837,13 @@ OMIM:604808 a owl:Class ; PMID:6881209 ; RO:0002525 CHR:9606chr20p12.1 ; RO:0003303 OMIM:615271 ; - oboInOwl:hasDbXref UMLS:C1333566 ; oboInOwl:hasExactSynonym "FLRT3", "fibronectin-like domain-containing leucine-rich transmembrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23767 ; - skos:exactMatch HGNC_symbol:FLRT3 ; + skos:exactMatch UMLS:C1333566, + HGNC:3762, + HGNC_symbol:FLRT3 ; biolink:category biolink:Gene . OMIM:604809 a owl:Class ; @@ -195370,23 +201862,24 @@ OMIM:604809 a owl:Class ; PMID:9741370, PMID:9927368 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C0878555 ; oboInOwl:hasExactSynonym "dpb", "panbronchiolitis, diffuse", "pblt" ; + skos:exactMatch UMLS:C0878555 ; biolink:category biolink:Disease . OMIM:604810 a owl:Class ; rdfs:label "LILRA1" ; IAO:0000142 PMID:9548455 ; - oboInOwl:hasDbXref UMLS:C1416854 ; oboInOwl:hasExactSynonym "LILRA1", "cd85i", "leukocyte immunoglobulin-like receptor 6", "leukocyte immunoglobulin-like receptor, subfamily a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11024 ; - skos:exactMatch HGNC_symbol:LILRA1 ; + skos:exactMatch UMLS:C1416854, + HGNC:6602, + HGNC_symbol:LILRA1 ; biolink:category biolink:Gene . OMIM:604811 a owl:Class ; @@ -195403,7 +201896,6 @@ OMIM:604811 a owl:Class ; PMID:9285411, PMID:9382880, PMID:9548455 ; - oboInOwl:hasDbXref UMLS:C1416857 ; oboInOwl:hasExactSynonym "LILRB1", "cd85", "cd85j", @@ -195413,7 +201905,9 @@ OMIM:604811 a owl:Class ; "monocyte/macrophage immunoglobulin-like receptor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10859 ; - skos:exactMatch HGNC_symbol:LILRB1 ; + skos:exactMatch UMLS:C1416857, + HGNC:6605, + HGNC_symbol:LILRB1 ; biolink:category biolink:Gene . OMIM:604812 a owl:Class ; @@ -195423,7 +201917,6 @@ OMIM:604812 a owl:Class ; PMID:12970564, PMID:9079806, PMID:9548455 ; - oboInOwl:hasDbXref UMLS:C1416855 ; oboInOwl:hasExactSynonym "LILRA2", "cd85h", "immunoglobulin-like transcript 1", @@ -195431,7 +201924,9 @@ OMIM:604812 a owl:Class ; "leukocyte immunoglobulin-like receptor, subfamily a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11027 ; - skos:exactMatch HGNC_symbol:LILRA2 ; + skos:exactMatch UMLS:C1416855, + HGNC:6603, + HGNC_symbol:LILRA2 ; biolink:category biolink:Gene . OMIM:604813 a owl:Class ; @@ -195440,27 +201935,29 @@ OMIM:604813 a owl:Class ; PMID:11027508, PMID:12370308, PMID:9050918 ; - oboInOwl:hasDbXref UMLS:C1413633 ; oboInOwl:hasExactSynonym "COX17", "cox17, s. cerevisiae, homolog of", "cytochrome c oxidase assembly factor cox17", "cytochrome c oxidase copper chaperone cox17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10063 ; - skos:exactMatch HGNC_symbol:COX17 ; + skos:exactMatch UMLS:C1413633, + HGNC:2264, + HGNC_symbol:COX17 ; biolink:category biolink:Gene . OMIM:604814 a owl:Class ; rdfs:label "LILRB5" ; IAO:0000142 PMID:9548455 ; - oboInOwl:hasDbXref UMLS:C1416861 ; oboInOwl:hasExactSynonym "LILRB5", "cd85c", "leukocyte immunoglobulin-like receptor 8", "leukocyte immunoglobulin-like receptor, subfamily b, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10990 ; - skos:exactMatch HGNC_symbol:LILRB5 ; + skos:exactMatch UMLS:C1416861, + HGNC:6609, + HGNC_symbol:LILRB5 ; biolink:category biolink:Gene . OMIM:604815 a owl:Class ; @@ -195473,7 +201970,6 @@ OMIM:604815 a owl:Class ; PMID:9259559, PMID:9382880, PMID:9548455 ; - oboInOwl:hasDbXref UMLS:C1416858 ; oboInOwl:hasExactSynonym "LILRB2", "cd85d", "immunoglobulin-like transcript 4", @@ -195482,7 +201978,9 @@ OMIM:604815 a owl:Class ; "monocyte/macrophage immunoglobulin-like receptor 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10288 ; - skos:exactMatch HGNC_symbol:LILRB2 ; + skos:exactMatch UMLS:C1416858, + HGNC:6606, + HGNC_symbol:LILRB2 ; biolink:category biolink:Gene . OMIM:604816 a owl:Class ; @@ -195494,14 +201992,15 @@ OMIM:604817 a owl:Class ; IAO:0000142 PMID:10491328, PMID:11017086, PMID:16938851 ; - oboInOwl:hasDbXref UMLS:C1413418 ; oboInOwl:hasExactSynonym "CHST5", "carbohydrate sulfotransferase 5", "glcnac-6-o-sulfotransferase, intestinal", "n-acetylglucosamine-6-o-sulfotransferase, intestinal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23563 ; - skos:exactMatch HGNC_symbol:CHST5 ; + skos:exactMatch UMLS:C1413418, + HGNC:1973, + HGNC_symbol:CHST5 ; biolink:category biolink:Gene . OMIM:604818 a owl:Class ; @@ -195512,7 +202011,6 @@ OMIM:604818 a owl:Class ; PMID:9278324, PMID:9382880, PMID:9548455 ; - oboInOwl:hasDbXref UMLS:C1416856 ; oboInOwl:hasExactSynonym "LILRA3", "cd85e", "hm43", @@ -195521,7 +202019,9 @@ OMIM:604818 a owl:Class ; "leukocyte immunoglobulin-like receptor, subfamily a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11026 ; - skos:exactMatch HGNC_symbol:LILRA3 ; + skos:exactMatch UMLS:C1416856, + HGNC:6604, + HGNC_symbol:LILRA3 ; biolink:category biolink:Gene . OMIM:604819 a owl:Class ; @@ -195534,8 +202034,6 @@ OMIM:604819 a owl:Class ; PMID:28471317 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:615583 ; - oboInOwl:hasDbXref UMLS:C1858105, - UMLS:C3810023 ; oboInOwl:hasExactSynonym "PUF60", "fbp-interacting repressor", "fuse-binding protein-interacting repressor", @@ -195543,7 +202041,10 @@ OMIM:604819 a owl:Class ; "siah-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22827 ; - skos:exactMatch HGNC_symbol:PUF60 ; + skos:exactMatch UMLS:C1858105, + UMLS:C3810023, + HGNC:17042, + HGNC_symbol:PUF60 ; biolink:category biolink:Gene . OMIM:604820 a owl:Class ; @@ -195554,7 +202055,6 @@ OMIM:604820 a owl:Class ; PMID:9278324, PMID:9382880, PMID:9548455 ; - oboInOwl:hasDbXref UMLS:C1416859 ; oboInOwl:hasExactSynonym "LILRB3", "cd85a", "hl9", @@ -195564,7 +202064,9 @@ OMIM:604820 a owl:Class ; "paired immunoglobulin-like receptor B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11025 ; - skos:exactMatch HGNC_symbol:LILRB3 ; + skos:exactMatch UMLS:C1416859, + HGNC:6607, + HGNC_symbol:LILRB3 ; biolink:category biolink:Gene . OMIM:604821 a owl:Class ; @@ -195577,7 +202079,6 @@ OMIM:604821 a owl:Class ; PMID:9151699, PMID:9278324, PMID:9548455 ; - oboInOwl:hasDbXref UMLS:C1416860 ; oboInOwl:hasExactSynonym "LILRB4", "cd85k", "hm18", @@ -195586,18 +202087,21 @@ OMIM:604821 a owl:Class ; "leukocyte immunoglobulin-like receptor, subfamily b, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11006 ; - skos:exactMatch HGNC_symbol:LILRB4 ; + skos:exactMatch UMLS:C1416860, + HGNC:6608, + HGNC_symbol:LILRB4 ; biolink:category biolink:Gene . OMIM:604822 a owl:Class ; rdfs:label "CAPN11" ; IAO:0000142 PMID:10409436 ; - oboInOwl:hasDbXref UMLS:C1413111 ; oboInOwl:hasExactSynonym "CAPN11", "calpain 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11131 ; - skos:exactMatch HGNC_symbol:CAPN11 ; + skos:exactMatch UMLS:C1413111, + HGNC:1478, + HGNC_symbol:CAPN11 ; biolink:category biolink:Gene . OMIM:604823 a owl:Class ; @@ -195605,13 +202109,14 @@ OMIM:604823 a owl:Class ; IAO:0000142 PMID:10644443, PMID:15728386, PMID:9122247 ; - oboInOwl:hasDbXref UMLS:C1412738 ; oboInOwl:hasExactSynonym "BARX2", "barh-like homeobox gene 2", "barx homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8538 ; - skos:exactMatch HGNC_symbol:BARX2 ; + skos:exactMatch UMLS:C1412738, + HGNC:956, + HGNC_symbol:BARX2 ; biolink:category biolink:Gene . OMIM:604824 a owl:Class ; @@ -195639,13 +202144,14 @@ OMIM:604824 a owl:Class ; PMID:9464267 ; RO:0002525 CHR:9606chr13q13.1 ; RO:0003303 OMIM:617994 ; - oboInOwl:hasDbXref UMLS:C1416656 ; oboInOwl:hasExactSynonym "KL", "alpha-klotho", "klotho" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9365 ; - skos:exactMatch HGNC_symbol:KL ; + skos:exactMatch UMLS:C1416656, + HGNC:6344, + HGNC_symbol:KL ; biolink:category biolink:Gene . OMIM:604825 a owl:Class ; @@ -195653,25 +202159,27 @@ OMIM:604825 a owl:Class ; IAO:0000142 PMID:18647754, PMID:19667186, PMID:9096408 ; - oboInOwl:hasDbXref UMLS:C1414590 ; oboInOwl:hasExactSynonym "FEZ1", "fasciculation and elongation protein zeta 1", "fasciculation and elongation protein zygin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9638 ; - skos:exactMatch HGNC_symbol:FEZ1 ; + skos:exactMatch UMLS:C1414590, + HGNC:3659, + HGNC_symbol:FEZ1 ; biolink:category biolink:Gene . OMIM:604826 a owl:Class ; rdfs:label "FEZ2" ; IAO:0000142 PMID:9096408 ; - oboInOwl:hasDbXref UMLS:C1414591 ; oboInOwl:hasExactSynonym "FEZ2", "fasciculation and elongation protein zeta 2", "fasciculation and elongation protein zygin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9637 ; - skos:exactMatch HGNC_symbol:FEZ2 ; + skos:exactMatch UMLS:C1414591, + HGNC:3660, + HGNC_symbol:FEZ2 ; biolink:category biolink:Gene . OMIM:604828 a owl:Class ; @@ -195681,34 +202189,36 @@ OMIM:604828 a owl:Class ; PMID:8574748, PMID:8849694, PMID:9632725 ; - oboInOwl:hasDbXref UMLS:C1337028 ; oboInOwl:hasExactSynonym "XCL2", "chemokine, c motif, ligand 2", "single cysteine motif 1b", "small inducible cytokine subfamily c, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6846 ; - skos:exactMatch HGNC_symbol:XCL2 ; + skos:exactMatch UMLS:C1337028, + HGNC:10646, + HGNC_symbol:XCL2 ; biolink:category biolink:Gene . OMIM:604829 a owl:Class ; rdfs:label "DSCR4" ; IAO:0000142 PMID:16288839, PMID:9455479 ; - oboInOwl:hasDbXref UMLS:C1414165 ; oboInOwl:hasExactSynonym "DSCR4", "down syndrome critical region gene 4", "down syndrome critical region gene B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10281 ; - skos:exactMatch HGNC_symbol:DSCR4 ; + skos:exactMatch UMLS:C1414165, + HGNC:3045, + HGNC_symbol:DSCR4 ; biolink:category biolink:Gene . OMIM:604830 a owl:Class ; rdfs:label "mandibulofacial dysostosis syndrome, bauru iia" ; IAO:0000142 PMID:10449663 ; - oboInOwl:hasDbXref UMLS:C1858101 ; - oboInOwl:hasExactSynonym "mandibulofacial dysostosis syndrome, bauru iia" . + oboInOwl:hasExactSynonym "mandibulofacial dysostosis syndrome, bauru iia" ; + skos:exactMatch UMLS:C1858101 . OMIM:604831 a owl:Class ; rdfs:label "EVC" ; @@ -195730,13 +202240,14 @@ OMIM:604831 a owl:Class ; PMID:9066272 ; RO:0002525 CHR:9606chr4p16.2 ; RO:0003303 OMIM:225500 ; - oboInOwl:hasDbXref UMLS:C1414479 ; oboInOwl:hasExactSynonym "EVC", "evc ciliary complex subunit 1", "evc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2121 ; - skos:exactMatch HGNC_symbol:EVC ; + skos:exactMatch UMLS:C1414479, + HGNC:3497, + HGNC_symbol:EVC ; biolink:category biolink:Gene . OMIM:604832 a owl:Class ; @@ -195745,13 +202256,14 @@ OMIM:604832 a owl:Class ; PMID:10512682, PMID:15901897, PMID:16260723 ; - oboInOwl:hasDbXref UMLS:C1413042 ; oboInOwl:hasExactSynonym "CA14", "ca 14", "carbonic anhydrase 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23632 ; - skos:exactMatch HGNC_symbol:CA14 ; + skos:exactMatch UMLS:C1413042, + HGNC:1372, + HGNC_symbol:CA14 ; biolink:category biolink:Gene . OMIM:604833 a owl:Class ; @@ -195765,7 +202277,6 @@ OMIM:604833 a owl:Class ; PMID:18025475, PMID:8574748, PMID:8670425 ; - oboInOwl:hasDbXref UMLS:C1366566 ; oboInOwl:hasExactSynonym "CCL27", "chemokine, cc motif, ligand 27", "cutaneous t cell-attracting chemokine", @@ -195774,7 +202285,9 @@ OMIM:604833 a owl:Class ; "small inducible cytokine subfamily a, member 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10850 ; - skos:exactMatch HGNC_symbol:CCL27 ; + skos:exactMatch UMLS:C1366566, + HGNC:10626, + HGNC_symbol:CCL27 ; biolink:category biolink:Gene . OMIM:604834 a owl:Class ; @@ -195805,26 +202318,28 @@ OMIM:604834 a owl:Class ; PMID:31118511 ; RO:0002525 CHR:9606chr12q14.2 ; RO:0003303 OMIM:617900 ; - oboInOwl:hasDbXref UMLS:C1336579 ; oboInOwl:hasExactSynonym "TBK1", "nf-kappa-b-activating kinase", "tank-binding kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29110 ; - skos:exactMatch HGNC_symbol:TBK1 ; + skos:exactMatch UMLS:C1336579, + HGNC:11584, + HGNC_symbol:TBK1 ; biolink:category biolink:Gene . OMIM:604835 a owl:Class ; rdfs:label "DUSP12" ; IAO:0000142 PMID:10446167, PMID:19228121 ; - oboInOwl:hasDbXref UMLS:C1414183 ; oboInOwl:hasExactSynonym "DUSP12", "dual-specificity phosphatase 12", "yvh1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11266 ; - skos:exactMatch HGNC_symbol:DUSP12 ; + skos:exactMatch UMLS:C1414183, + HGNC:3067, + HGNC_symbol:DUSP12 ; biolink:category biolink:Gene . OMIM:604836 a owl:Class ; @@ -195837,14 +202352,15 @@ OMIM:604836 a owl:Class ; PMID:9169480, PMID:9419219, PMID:9430724 ; - oboInOwl:hasDbXref UMLS:C1413190 ; oboInOwl:hasExactSynonym "CCR4", "chemokine, cc motif, receptor 4", "ckr4", "cmkbr4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1233 ; - skos:exactMatch HGNC_symbol:CCR4 ; + skos:exactMatch UMLS:C1413190, + HGNC:1605, + HGNC_symbol:CCR4 ; biolink:category biolink:Gene . OMIM:604837 a owl:Class ; @@ -195856,26 +202372,28 @@ OMIM:604837 a owl:Class ; PMID:22544936, PMID:25362177, PMID:9973380 ; - oboInOwl:hasDbXref UMLS:C1415238 ; oboInOwl:hasExactSynonym "PTGDR2", "crth2", "g protein-coupled receptor 44", "prostaglandin d2 receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11251 ; - skos:exactMatch HGNC_symbol:PTGDR2 ; + skos:exactMatch UMLS:C1415238, + HGNC:4502, + HGNC_symbol:PTGDR2 ; biolink:category biolink:Gene . OMIM:604838 a owl:Class ; rdfs:label "GPR45" ; IAO:0000142 PMID:10036181, PMID:27500489 ; - oboInOwl:hasDbXref UMLS:C1415239 ; oboInOwl:hasExactSynonym "GPR45", "g protein-coupled receptor 45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11250 ; - skos:exactMatch HGNC_symbol:GPR45 ; + skos:exactMatch UMLS:C1415239, + HGNC:4503, + HGNC_symbol:GPR45 ; biolink:category biolink:Gene . OMIM:604839 a owl:Class ; @@ -195883,13 +202401,14 @@ OMIM:604839 a owl:Class ; IAO:0000142 PMID:12764197, PMID:15770126, PMID:9782077 ; - oboInOwl:hasDbXref UMLS:C1414628 ; oboInOwl:hasExactSynonym "FKBP6", "fk506-binding protein 6", "fk506-binding protein, 36-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8468 ; - skos:exactMatch HGNC_symbol:FKBP6 ; + skos:exactMatch UMLS:C1414628, + HGNC:3722, + HGNC_symbol:FKBP6 ; biolink:category biolink:Gene . OMIM:604840 a owl:Class ; @@ -195900,13 +202419,14 @@ OMIM:604840 a owl:Class ; PMID:17991864, PMID:18003640, PMID:7543869 ; - oboInOwl:hasDbXref UMLS:C1414630 ; oboInOwl:hasExactSynonym "FKBP8", "fk506-binding protein 8", "fk506-binding protein, 38-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23770 ; - skos:exactMatch HGNC_symbol:FKBP8 ; + skos:exactMatch UMLS:C1414630, + HGNC:3724, + HGNC_symbol:FKBP8 ; biolink:category biolink:Gene . OMIM:604841 a owl:Class ; @@ -195918,12 +202438,12 @@ OMIM:604841 a owl:Class ; PMID:17318849, PMID:8872475, PMID:9529347 ; - oboInOwl:hasDbXref UMLS:C1858084 ; oboInOwl:hasExactSynonym "STL2", "stickler syndrome, iia 2", "stickler syndrome, beaded vitreous iia", "stickler syndrome, vitreous iia 2" ; rdfs:subClassOf OMIMPS:108300 ; + skos:exactMatch UMLS:C1858084 ; biolink:category biolink:Disease . OMIM:604842 a owl:Class ; @@ -195935,14 +202455,15 @@ OMIM:604842 a owl:Class ; PMID:18988810, PMID:9830022, PMID:9933568 ; - oboInOwl:hasDbXref UMLS:C1420138 ; oboInOwl:hasExactSynonym "SLC22A3", "extraneuronal monoamine transporter", "organic cation transporter 3", "solute carrier family 22 (extraneuronal monoamine transporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6581 ; - skos:exactMatch HGNC_symbol:SLC22A3 ; + skos:exactMatch UMLS:C1420138, + HGNC:10967, + HGNC_symbol:SLC22A3 ; biolink:category biolink:Gene . OMIM:604843 a owl:Class ; @@ -195958,7 +202479,6 @@ OMIM:604843 a owl:Class ; PMID:22232210 ; RO:0002525 CHR:9606chr12p12.1 ; RO:0003303 OMIM:237450 ; - oboInOwl:hasDbXref UMLS:C1420131 ; oboInOwl:hasExactSynonym "SLCO1B1", "liver-specific transporter 1", "organic anion transporter 1b1", @@ -195968,7 +202488,9 @@ OMIM:604843 a owl:Class ; "solute carrier organic anion transporter family, member 1b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10599 ; - skos:exactMatch HGNC_symbol:SLCO1B1 ; + skos:exactMatch UMLS:C1420131, + HGNC:10959, + HGNC_symbol:SLCO1B1 ; biolink:category biolink:Gene . OMIM:604844 a owl:Class ; @@ -195977,24 +202499,26 @@ OMIM:604844 a owl:Class ; PMID:9455484 ; RO:0002525 CHR:9606chr1p22.3 ; RO:0003303 OMIM:619194 ; - oboInOwl:hasDbXref UMLS:C1415726 ; oboInOwl:hasExactSynonym "HS2ST1", "heparan sulfate 2-o-sulfotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9653 ; - skos:exactMatch HGNC_symbol:HS2ST1 ; + skos:exactMatch UMLS:C1415726, + HGNC:5193, + HGNC_symbol:HS2ST1 ; biolink:category biolink:Gene . OMIM:604845 a owl:Class ; rdfs:label "PCA3" ; IAO:0000142 PMID:10606244 ; - oboInOwl:hasDbXref UMLS:C1418289 ; oboInOwl:hasExactSynonym "PCA3", "prostate cancer antigen 3", "prostate-specific gene dd3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50652 ; - skos:exactMatch HGNC_symbol:PCA3 ; + skos:exactMatch UMLS:C1418289, + HGNC:8637, + HGNC_symbol:PCA3 ; biolink:category biolink:Gene . OMIM:604846 a owl:Class ; @@ -196007,24 +202531,26 @@ OMIM:604846 a owl:Class ; PMID:9535912 ; RO:0002525 CHR:9606chr2q14.3 ; RO:0003303 OMIM:614880 ; - oboInOwl:hasDbXref UMLS:C1415734 ; oboInOwl:hasExactSynonym "HS6ST1", "heparan sulfate 6-o-sulfotransferase 1", "hs6st" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9394 ; - skos:exactMatch HGNC_symbol:HS6ST1 ; + skos:exactMatch UMLS:C1415734, + HGNC:5201, + HGNC_symbol:HS6ST1 ; biolink:category biolink:Gene . OMIM:604847 a owl:Class ; rdfs:label "GPR26" ; IAO:0000142 PMID:10684976 ; - oboInOwl:hasDbXref UMLS:C1415219 ; oboInOwl:hasExactSynonym "GPR26", "g protein-coupled receptor 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2849 ; - skos:exactMatch HGNC_symbol:GPR26 ; + skos:exactMatch UMLS:C1415219, + HGNC:4481, + HGNC_symbol:GPR26 ; biolink:category biolink:Gene . OMIM:604848 a owl:Class ; @@ -196044,7 +202570,6 @@ OMIM:604850 a owl:Class ; PMID:25043011, PMID:8837781, PMID:9341143 ; - oboInOwl:hasDbXref UMLS:C1413614 ; oboInOwl:hasExactSynonym "COPS5", "cop9 signalosome, subunit 5", "csn5", @@ -196053,7 +202578,9 @@ OMIM:604850 a owl:Class ; "sgn5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10987 ; - skos:exactMatch HGNC_symbol:COPS5 ; + skos:exactMatch UMLS:C1413614, + HGNC:2240, + HGNC_symbol:COPS5 ; biolink:category biolink:Gene . OMIM:604851 a owl:Class ; @@ -196062,12 +202589,13 @@ OMIM:604851 a owl:Class ; PMID:18593884, PMID:8036161, PMID:8751379 ; - oboInOwl:hasDbXref UMLS:C1415315 ; oboInOwl:hasExactSynonym "GRSF1", "g-rich RNA sequence-binding factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2926 ; - skos:exactMatch HGNC_symbol:GRSF1 ; + skos:exactMatch UMLS:C1415315, + HGNC:4610, + HGNC_symbol:GRSF1 ; biolink:category biolink:Gene . OMIM:604852 a owl:Class ; @@ -196082,7 +202610,6 @@ OMIM:604852 a owl:Class ; PMID:9370294, PMID:9625760, PMID:9730616 ; - oboInOwl:hasDbXref UMLS:C1332816 ; oboInOwl:hasExactSynonym "CXCL11", "chemokine, cxc motif, ligand 11", "interferon-gamma-inducible protein 9", @@ -196091,7 +202618,9 @@ OMIM:604852 a owl:Class ; "small inducible cytokine subfamily b, member 9b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6373 ; - skos:exactMatch HGNC_symbol:CXCL11 ; + skos:exactMatch UMLS:C1332816, + HGNC:10638, + HGNC_symbol:CXCL11 ; biolink:category biolink:Gene . OMIM:604853 a owl:Class ; @@ -196099,32 +202628,34 @@ OMIM:604853 a owl:Class ; IAO:0000142 PMID:11551941, PMID:2381442, PMID:7751637 ; - oboInOwl:hasDbXref UMLS:C1422690 ; oboInOwl:hasExactSynonym "MRPL28", "melanoma-associated antigen recognized by t lymphocytes 1", "mitochondrial ribosomal protein l28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10573 ; - skos:exactMatch HGNC_symbol:MRPL28 ; + skos:exactMatch UMLS:C1422690, + HGNC:14484, + HGNC_symbol:MRPL28 ; biolink:category biolink:Gene . OMIM:604854 a owl:Class ; rdfs:label "INMT" ; IAO:0000142 PMID:10552930 ; - oboInOwl:hasDbXref UMLS:C1416439 ; oboInOwl:hasExactSynonym "INMT", "indolethylamine n-methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11185 ; - skos:exactMatch HGNC_symbol:INMT ; + skos:exactMatch UMLS:C1416439, + HGNC:6069, + HGNC_symbol:INMT ; biolink:category biolink:Gene . OMIM:604855 a owl:Class ; rdfs:label "hyaluronan metabolism, defect 1n" ; IAO:0000142 PMID:10636976, PMID:8793927 ; - oboInOwl:hasDbXref UMLS:C1858083 ; - oboInOwl:hasExactSynonym "hyaluronan metabolism, defect 1n" . + oboInOwl:hasExactSynonym "hyaluronan metabolism, defect 1n" ; + skos:exactMatch UMLS:C1858083 . OMIM:604856 a owl:Class ; rdfs:label "langerhans cell histiocytosis" ; @@ -196133,9 +202664,9 @@ OMIM:604856 a owl:Class ; PMID:18157139, PMID:19424201, PMID:7608790 ; - oboInOwl:hasDbXref UMLS:C0019621 ; oboInOwl:hasExactSynonym "langerhans cell histiocytosis", - "lch" . + "lch" ; + skos:exactMatch UMLS:C0019621 . OMIM:604857 a owl:Class ; rdfs:label "SRP54" ; @@ -196150,13 +202681,14 @@ OMIM:604857 a owl:Class ; PMID:9399828 ; RO:0002525 CHR:9606chr14q13.2 ; RO:0003303 OMIM:618752 ; - oboInOwl:hasDbXref UMLS:C1420408, - UMLS:C5203411 ; oboInOwl:hasExactSynonym "SRP54", "signal recognition particle, 54-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6729 ; - skos:exactMatch HGNC_symbol:SRP54 ; + skos:exactMatch UMLS:C1420408, + UMLS:C5203411, + HGNC:11301, + HGNC_symbol:SRP54 ; biolink:category biolink:Gene . OMIM:604858 a owl:Class ; @@ -196167,23 +202699,25 @@ OMIM:604858 a owl:Class ; PMID:2460823, PMID:24700861, PMID:9399828 ; - oboInOwl:hasDbXref UMLS:C1420409 ; oboInOwl:hasExactSynonym "SRP68", "signal recognition particle, 68-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6730 ; - skos:exactMatch HGNC_symbol:SRP68 ; + skos:exactMatch UMLS:C1420409, + HGNC:11302, + HGNC_symbol:SRP68 ; biolink:category biolink:Gene . OMIM:604859 a owl:Class ; rdfs:label "LMCD1" ; IAO:0000142 PMID:10662546 ; - oboInOwl:hasDbXref UMLS:C1416876 ; oboInOwl:hasExactSynonym "LMCD1", "lim and cysteine-rich domains 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29995 ; - skos:exactMatch HGNC_symbol:LMCD1 ; + skos:exactMatch UMLS:C1416876, + HGNC:6633, + HGNC_symbol:LMCD1 ; biolink:category biolink:Gene . OMIM:604860 a owl:Class ; @@ -196207,8 +202741,6 @@ OMIM:604860 a owl:Class ; PMID:9307277 ; RO:0002525 CHR:9606chr18q21.32 ; RO:0003303 OMIM:615468 ; - oboInOwl:hasDbXref UMLS:C1416991, - UMLS:C3809583 ; oboInOwl:hasExactSynonym "MALT1", "malt1 paracaspase", "malt1/api2 fusion gene", @@ -196217,7 +202749,10 @@ OMIM:604860 a owl:Class ; "paracaspase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10892 ; - skos:exactMatch HGNC_symbol:MALT1 ; + skos:exactMatch UMLS:C1416991, + UMLS:C3809583, + HGNC:6819, + HGNC_symbol:MALT1 ; biolink:category biolink:Gene . OMIM:604861 a owl:Class ; @@ -196227,13 +202762,14 @@ OMIM:604861 a owl:Class ; PMID:17015431, PMID:18978791, PMID:28068668 ; - oboInOwl:hasDbXref UMLS:C1334331 ; oboInOwl:hasExactSynonym "LATS2", "large tumor suppressor kinase 2", "large tumor suppressor, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26524 ; - skos:exactMatch HGNC_symbol:LATS2 ; + skos:exactMatch UMLS:C1334331, + HGNC:6515, + HGNC_symbol:LATS2 ; biolink:category biolink:Gene . OMIM:604862 a owl:Class ; @@ -196249,7 +202785,6 @@ OMIM:604862 a owl:Class ; PMID:7798619 ; RO:0002525 CHR:9606chr2p13.3 ; RO:0003303 OMIM:613393 ; - oboInOwl:hasDbXref UMLS:C1425189 ; oboInOwl:hasExactSynonym "CD207", "c-type lectin domain family 4, member k", "cd207 antigen", @@ -196257,7 +202792,9 @@ OMIM:604862 a owl:Class ; "lectin, c-type, langerhans cell-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50489 ; - skos:exactMatch HGNC_symbol:CD207 ; + skos:exactMatch UMLS:C1425189, + HGNC:17935, + HGNC_symbol:CD207 ; biolink:category biolink:Gene . OMIM:604863 a owl:Class ; @@ -196271,12 +202808,13 @@ OMIM:604863 a owl:Class ; PMID:9920938 ; RO:0002525 CHR:9606chr4q32.1 ; RO:0003303 OMIM:613341 ; - oboInOwl:hasDbXref UMLS:C1416905 ; oboInOwl:hasExactSynonym "LRAT", "lecithin retinol acyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9227 ; - skos:exactMatch HGNC_symbol:LRAT ; + skos:exactMatch UMLS:C1416905, + HGNC:6685, + HGNC_symbol:LRAT ; biolink:category biolink:Gene . OMIM:604864 a owl:Class ; @@ -196287,10 +202825,10 @@ OMIM:604864 a owl:Class ; PMID:6496567, PMID:7757086, PMID:8507190 ; - oboInOwl:hasDbXref UMLS:C0432214 ; oboInOwl:hasExactSynonym "OSCDP", "namaqualand hip dysplasia", "osteoarthritis with mild chondrodysplasia" ; + skos:exactMatch UMLS:C0432214 ; biolink:category biolink:Disease . OMIM:604865 a owl:Class ; @@ -196299,25 +202837,27 @@ OMIM:604865 a owl:Class ; PMID:15937222, PMID:17123745, PMID:9774444 ; - oboInOwl:hasDbXref UMLS:C1416662 ; oboInOwl:hasExactSynonym "KLF7", "kruppel-like factor 7", "ubiquitous kruppel-like factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8609 ; - skos:exactMatch HGNC_symbol:KLF7 ; + skos:exactMatch UMLS:C1416662, + HGNC:6350, + HGNC_symbol:KLF7 ; biolink:category biolink:Gene . OMIM:604866 a owl:Class ; rdfs:label "PLAGL2" ; IAO:0000142 PMID:9722527 ; - oboInOwl:hasDbXref UMLS:C1418630 ; oboInOwl:hasExactSynonym "PLAGL2", "plag1-like zinc finger 2", "pleomorphic adenoma gene-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5326 ; - skos:exactMatch HGNC_symbol:PLAGL2 ; + skos:exactMatch UMLS:C1418630, + HGNC:9047, + HGNC_symbol:PLAGL2 ; biolink:category biolink:Gene . OMIM:604867 a owl:Class ; @@ -196335,26 +202875,28 @@ OMIM:604867 a owl:Class ; PMID:9603606 ; RO:0002525 CHR:9606chr7q31.32 ; RO:0003303 OMIM:103780 ; - oboInOwl:hasDbXref UMLS:C1423055 ; oboInOwl:hasExactSynonym "TAS2R16", "t2r16", "taste receptor, iia 2, member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50833 ; - skos:exactMatch HGNC_symbol:TAS2R16 ; + skos:exactMatch UMLS:C1423055, + HGNC:14921, + HGNC_symbol:TAS2R16 ; biolink:category biolink:Gene . OMIM:604868 a owl:Class ; rdfs:label "TAS2R3" ; IAO:0000142 PMID:10761934, PMID:10774719 ; - oboInOwl:hasDbXref UMLS:C1423046 ; oboInOwl:hasExactSynonym "TAS2R3", "t2r3", "taste receptor, iia 2, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50831 ; - skos:exactMatch HGNC_symbol:TAS2R3 ; + skos:exactMatch UMLS:C1423046, + HGNC:14910, + HGNC_symbol:TAS2R3 ; biolink:category biolink:Gene . OMIM:604869 a owl:Class ; @@ -196363,13 +202905,14 @@ OMIM:604869 a owl:Class ; PMID:10761935, PMID:10774719, PMID:19628819 ; - oboInOwl:hasDbXref UMLS:C1423047 ; oboInOwl:hasExactSynonym "TAS2R4", "t2r4", "taste receptor, iia 2, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50832 ; - skos:exactMatch HGNC_symbol:TAS2R4 ; + skos:exactMatch UMLS:C1423047, + HGNC:14911, + HGNC_symbol:TAS2R4 ; biolink:category biolink:Gene . OMIM:604870 a owl:Class ; @@ -196379,13 +202922,14 @@ OMIM:604870 a owl:Class ; PMID:23197261, PMID:7867067, PMID:9468508 ; - oboInOwl:hasDbXref UMLS:C1417032 ; oboInOwl:hasExactSynonym "MARCO", "macrophage receptor with collagenous structure", "scavenger receptor class a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8685 ; - skos:exactMatch HGNC_symbol:MARCO ; + skos:exactMatch UMLS:C1417032, + HGNC:6895, + HGNC_symbol:MARCO ; biolink:category biolink:Gene . OMIM:604871 a owl:Class ; @@ -196393,13 +202937,14 @@ OMIM:604871 a owl:Class ; IAO:0000142 PMID:10363975, PMID:10640822, PMID:26322584 ; - oboInOwl:hasDbXref UMLS:C1417211 ; oboInOwl:hasExactSynonym "MMP24", "matrix metalloproteinase 24", "membrane-type matrix metalloproteinase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10893 ; - skos:exactMatch HGNC_symbol:MMP24 ; + skos:exactMatch UMLS:C1417211, + HGNC:7172, + HGNC_symbol:MMP24 ; biolink:category biolink:Gene . OMIM:604872 a owl:Class ; @@ -196407,7 +202952,6 @@ OMIM:604872 a owl:Class ; IAO:0000142 PMID:8564950, PMID:8615762, PMID:9820811 ; - oboInOwl:hasDbXref UMLS:C1418392 ; oboInOwl:hasExactSynonym "PCSK7", "lymphoma proprotein convertase", "pc7", @@ -196415,7 +202959,9 @@ OMIM:604872 a owl:Class ; "proprotein convertase, subtilisin/kexin-type, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9159 ; - skos:exactMatch HGNC_symbol:PCSK7 ; + skos:exactMatch UMLS:C1418392, + HGNC:8748, + HGNC_symbol:PCSK7 ; biolink:category biolink:Gene . OMIM:604873 a owl:Class ; @@ -196426,14 +202972,15 @@ OMIM:604873 a owl:Class ; PMID:9585423 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:618145 ; - oboInOwl:hasDbXref UMLS:C1414478 ; oboInOwl:hasExactSynonym "MPZL2", "epithelial v-like antigen 1", "eva", "myelin protein zero-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10205 ; - skos:exactMatch HGNC_symbol:MPZL2 ; + skos:exactMatch UMLS:C1414478, + HGNC:3496, + HGNC_symbol:MPZL2 ; biolink:category biolink:Gene . OMIM:604874 a owl:Class ; @@ -196446,14 +202993,15 @@ OMIM:604874 a owl:Class ; PMID:9765598, PMID:9842918, PMID:9862378 ; - oboInOwl:hasDbXref UMLS:C1416687 ; oboInOwl:hasExactSynonym "KLRG1", "killer cell lectin-like receptor, subfamily g, member 1", "mafa-like", "mast cell function-associated antigen, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10219 ; - skos:exactMatch HGNC_symbol:KLRG1 ; + skos:exactMatch UMLS:C1416687, + HGNC:6380, + HGNC_symbol:KLRG1 ; biolink:category biolink:Gene . OMIM:604875 a owl:Class ; @@ -196467,18 +203015,18 @@ OMIM:604875 a owl:Class ; PMID:8791402 ; RO:0002525 CHR:9606chr15q23 ; RO:0003303 OMIM:618198 ; - oboInOwl:hasDbXref UMLS:C1417571 ; oboInOwl:hasExactSynonym "MYO9A", "myosin 9a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4649 ; - skos:exactMatch HGNC_symbol:MYO9A ; + skos:exactMatch UMLS:C1417571, + HGNC:7608, + HGNC_symbol:MYO9A ; biolink:category biolink:Gene . OMIM:604876 a owl:Class ; rdfs:label "RCAN2" ; IAO:0000142 PMID:8662924 ; - oboInOwl:hasDbXref UMLS:C1414161 ; oboInOwl:hasExactSynonym "RCAN2", "calcipressin 2", "down syndrome candidate region 1-like 1", @@ -196487,7 +203035,9 @@ OMIM:604876 a owl:Class ; "thyroid hormone-responsive gene zaki4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10231 ; - skos:exactMatch HGNC_symbol:RCAN2 ; + skos:exactMatch UMLS:C1414161, + HGNC:3041, + HGNC_symbol:RCAN2 ; biolink:category biolink:Gene . OMIM:604877 a owl:Class ; @@ -196495,13 +203045,14 @@ OMIM:604877 a owl:Class ; IAO:0000142 PMID:10527846, PMID:10591208, PMID:7798245 ; - oboInOwl:hasDbXref UMLS:C1416967 ; oboInOwl:hasExactSynonym "MAFF", "maf bzip transcription factor f", "v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23764 ; - skos:exactMatch HGNC_symbol:MAFF ; + skos:exactMatch UMLS:C1416967, + HGNC:6780, + HGNC_symbol:MAFF ; biolink:category biolink:Gene . OMIM:604878 a owl:Class ; @@ -196516,7 +203067,6 @@ OMIM:604878 a owl:Class ; PMID:21628467 ; RO:0002525 CHR:9606chr15q14 ; RO:0003303 OMIM:218000 ; - oboInOwl:hasDbXref UMLS:C1420094 ; oboInOwl:hasExactSynonym "SLC12A6", "potassium-chloride cotransporter 3", "potassium-chloride cotransporter 3, isoform B", @@ -196524,20 +203074,23 @@ OMIM:604878 a owl:Class ; "solute carrier family 12 (potassium/chloride transporter), member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9990 ; - skos:exactMatch HGNC_symbol:SLC12A6 ; + skos:exactMatch UMLS:C1420094, + HGNC:10914, + HGNC_symbol:SLC12A6 ; biolink:category biolink:Gene . OMIM:604879 a owl:Class ; rdfs:label "SLC12A7" ; IAO:0000142 PMID:10347194, PMID:11976689 ; - oboInOwl:hasDbXref UMLS:C1420095 ; oboInOwl:hasExactSynonym "SLC12A7", "potassium-chloride cotransporter 4", "solute carrier family 12 (potassium/chloride transporter), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10723 ; - skos:exactMatch HGNC_symbol:SLC12A7 ; + skos:exactMatch UMLS:C1420095, + HGNC:10915, + HGNC_symbol:SLC12A7 ; biolink:category biolink:Gene . OMIM:604880 a owl:Class ; @@ -196548,13 +203101,14 @@ OMIM:604881 a owl:Class ; rdfs:label "RPH3AL" ; IAO:0000142 PMID:10395805, PMID:9367993 ; - oboInOwl:hasDbXref UMLS:C1419624 ; oboInOwl:hasExactSynonym "RPH3AL", "noc2", "rabphilin 3a-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9501 ; - skos:exactMatch HGNC_symbol:RPH3AL ; + skos:exactMatch UMLS:C1419624, + HGNC:10296, + HGNC_symbol:RPH3AL ; biolink:category biolink:Gene . OMIM:604882 a owl:Class ; @@ -196569,21 +203123,21 @@ OMIM:604882 a owl:Class ; PMID:9000438 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:610370 ; - oboInOwl:hasDbXref UMLS:C1422205 ; oboInOwl:hasExactSynonym "NEUROG3", "atoh5", "neurogenin 3", "ngn3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50674 ; - skos:exactMatch HGNC_symbol:NEUROG3 ; + skos:exactMatch UMLS:C1422205, + HGNC:13806, + HGNC_symbol:NEUROG3 ; biolink:category biolink:Gene . OMIM:604883 a owl:Class ; rdfs:label "GTF3C2" ; IAO:0000142 PMID:7584026, PMID:7729686 ; - oboInOwl:hasDbXref UMLS:C1333725 ; oboInOwl:hasExactSynonym "GTF3C2", "general transcription factor 3c, polypeptide 2", "tfiiic, 110-kd subunit", @@ -196591,20 +203145,23 @@ OMIM:604883 a owl:Class ; "transcription factor iiic, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2976 ; - skos:exactMatch HGNC_symbol:GTF3C2 ; + skos:exactMatch UMLS:C1333725, + HGNC:4665, + HGNC_symbol:GTF3C2 ; biolink:category biolink:Gene . OMIM:604884 a owl:Class ; rdfs:label "NEK6" ; IAO:0000142 PMID:10702691, PMID:11701951 ; - oboInOwl:hasDbXref UMLS:C1417675 ; oboInOwl:hasExactSynonym "NEK6", "never 1n mitosis gene a-related kinase 6", "nima-related kinase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10783 ; - skos:exactMatch HGNC_symbol:NEK6 ; + skos:exactMatch UMLS:C1417675, + HGNC:7749, + HGNC_symbol:NEK6 ; biolink:category biolink:Gene . OMIM:604885 a owl:Class ; @@ -196612,26 +203169,28 @@ OMIM:604885 a owl:Class ; IAO:0000142 PMID:10644447, PMID:8302594, PMID:9447996 ; - oboInOwl:hasDbXref UMLS:C1334537 ; oboInOwl:hasExactSynonym "MYBBP1A", "myb-binding protein 1a", "p160" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10514 ; - skos:exactMatch HGNC_symbol:MYBBP1A ; + skos:exactMatch UMLS:C1334537, + HGNC:7546, + HGNC_symbol:MYBBP1A ; biolink:category biolink:Gene . OMIM:604886 a owl:Class ; rdfs:label "EMC8" ; IAO:0000142 PMID:10337626 ; - oboInOwl:hasDbXref UMLS:C1417751 ; oboInOwl:hasExactSynonym "EMC8", "cox4, neighbor of", "endoplasmic reticulum membrane protein complex, subunit 8", "er membrane protein complex, subunit 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10328 ; - skos:exactMatch HGNC_symbol:EMC8 ; + skos:exactMatch UMLS:C1417751, + HGNC:7864, + HGNC_symbol:EMC8 ; biolink:category biolink:Gene . OMIM:604887 a owl:Class ; @@ -196642,25 +203201,27 @@ OMIM:604887 a owl:Class ; PMID:26912861, PMID:3528153, PMID:8218174 ; - oboInOwl:hasDbXref UMLS:C1417422 ; oboInOwl:hasExactSynonym "MTHFD2", "methylenetetrahydrofolate dehydrogenase 2", "methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase, nad(+)-dependent" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10797 ; - skos:exactMatch HGNC_symbol:MTHFD2 ; + skos:exactMatch UMLS:C1417422, + HGNC:7434, + HGNC_symbol:MTHFD2 ; biolink:category biolink:Gene . OMIM:604888 a owl:Class ; rdfs:label "GTF3C3" ; IAO:0000142 PMID:10373544 ; - oboInOwl:hasDbXref UMLS:C1333726 ; oboInOwl:hasExactSynonym "GTF3C3", "general transcription factor 3c, polypeptide 3", "transcription factor iiic, 102-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9330 ; - skos:exactMatch HGNC_symbol:GTF3C3 ; + skos:exactMatch UMLS:C1333726, + HGNC:4666, + HGNC_symbol:GTF3C3 ; biolink:category biolink:Gene . OMIM:604889 a owl:Class ; @@ -196674,51 +203235,55 @@ OMIM:604889 a owl:Class ; PMID:8896560 ; RO:0002525 CHR:9606chr13q13.3 ; RO:0003303 OMIM:619157 ; - oboInOwl:hasDbXref UMLS:C1417603 ; oboInOwl:hasExactSynonym "NBEA", "fragile site fra13a", "neurobeachin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26960 ; - skos:exactMatch HGNC_symbol:NBEA ; + skos:exactMatch UMLS:C1417603, + HGNC:7648, + HGNC_symbol:NBEA ; biolink:category biolink:Gene . OMIM:604890 a owl:Class ; rdfs:label "GTF3C5" ; IAO:0000142 PMID:10373544 ; - oboInOwl:hasDbXref UMLS:C1333728 ; oboInOwl:hasExactSynonym "GTF3C5", "general transcription factor 3c, polypeptide 5", "transcription factor iiic, 63-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9328 ; - skos:exactMatch HGNC_symbol:GTF3C5 ; + skos:exactMatch UMLS:C1333728, + HGNC:4668, + HGNC_symbol:GTF3C5 ; biolink:category biolink:Gene . OMIM:604891 a owl:Class ; rdfs:label "NCKAP1" ; IAO:0000142 PMID:10673335, PMID:14765121 ; - oboInOwl:hasDbXref UMLS:C1417612 ; oboInOwl:hasExactSynonym "NCKAP1", "nap1", "nck-associated protein 1", "nck-associated protein, 125-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10787 ; - skos:exactMatch HGNC_symbol:NCKAP1 ; + skos:exactMatch UMLS:C1417612, + HGNC:7666, + HGNC_symbol:NCKAP1 ; biolink:category biolink:Gene . OMIM:604892 a owl:Class ; rdfs:label "GTF3C4" ; IAO:0000142 PMID:10523658 ; - oboInOwl:hasDbXref UMLS:C1333727 ; oboInOwl:hasExactSynonym "GTF3C4", "general transcription factor 3c, polypeptide 4", "transcription factor iiic, 90-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9329 ; - skos:exactMatch HGNC_symbol:GTF3C4 ; + skos:exactMatch UMLS:C1333727, + HGNC:4667, + HGNC_symbol:GTF3C4 ; biolink:category biolink:Gene . OMIM:604893 a owl:Class ; @@ -196734,26 +203299,28 @@ OMIM:604893 a owl:Class ; PMID:8267611, PMID:8462104, PMID:9338788 ; - oboInOwl:hasDbXref UMLS:C2681903 ; oboInOwl:hasExactSynonym "AIRN", "antisense igf2r RNA", "antisense igf2r rna, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100271873 ; - skos:exactMatch HGNC_symbol:AIRN ; + skos:exactMatch UMLS:C2681903, + HGNC:34515, + HGNC_symbol:AIRN ; biolink:category biolink:Gene . OMIM:604894 a owl:Class ; rdfs:label "ONECUT2" ; IAO:0000142 PMID:16831872, PMID:9915796 ; - oboInOwl:hasDbXref UMLS:C1417952 ; oboInOwl:hasExactSynonym "ONECUT2", "one cut domain, family member 2", "one cut homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9480 ; - skos:exactMatch HGNC_symbol:ONECUT2 ; + skos:exactMatch UMLS:C1417952, + HGNC:8139, + HGNC_symbol:ONECUT2 ; biolink:category biolink:Gene . OMIM:604895 a owl:Class ; @@ -196787,16 +203354,17 @@ OMIM:604895 a owl:Class ; PMID:9881967 ; RO:0002525 CHR:9606chr17q21.32 ; RO:0003303 OMIM:208550 ; - oboInOwl:hasDbXref UMLS:C1420610, - UMLS:C1858067, - UMLS:C1876174 ; oboInOwl:hasExactSynonym "TBX21", "t-box 21", "t-box expressed 1n t cells", "t-box transcription factor 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30009 ; - skos:exactMatch HGNC_symbol:TBX21 ; + skos:exactMatch UMLS:C1420610, + UMLS:C1858067, + UMLS:C1876174, + HGNC:11599, + HGNC_symbol:TBX21 ; biolink:category biolink:Gene . OMIM:604896 a owl:Class ; @@ -196822,43 +203390,46 @@ OMIM:604896 a owl:Class ; PMID:28753627 ; RO:0002525 CHR:9606chr20p12.2 ; RO:0003303 OMIM:236700 ; - oboInOwl:hasDbXref UMLS:C0948368, - UMLS:C1417174, - UMLS:C1858054, - UMLS:C2675305, - UMLS:C4016908 ; oboInOwl:hasExactSynonym "MKKS", "bbs6 gene", "mkks gene", "mks" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8195 ; - skos:exactMatch HGNC_symbol:MKKS ; + skos:exactMatch UMLS:C0948368, + UMLS:C1417174, + UMLS:C1858054, + UMLS:C2675305, + UMLS:C4016908, + HGNC:7108, + HGNC_symbol:MKKS ; biolink:category biolink:Gene . OMIM:604897 a owl:Class ; rdfs:label "PFDN1" ; IAO:0000142 PMID:10209023, PMID:9630229 ; - oboInOwl:hasDbXref UMLS:C1418483 ; oboInOwl:hasExactSynonym "PFDN1", "prefoldin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5201 ; - skos:exactMatch HGNC_symbol:PFDN1 ; + skos:exactMatch UMLS:C1418483, + HGNC:8866, + HGNC_symbol:PFDN1 ; biolink:category biolink:Gene . OMIM:604898 a owl:Class ; rdfs:label "PFDN4" ; IAO:0000142 PMID:8744932, PMID:9630229 ; - oboInOwl:hasDbXref UMLS:C1418485 ; oboInOwl:hasExactSynonym "PFDN4", "c1", "prefoldin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5203 ; - skos:exactMatch HGNC_symbol:PFDN4 ; + skos:exactMatch UMLS:C1418485, + HGNC:8868, + HGNC_symbol:PFDN4 ; biolink:category biolink:Gene . OMIM:604899 a owl:Class ; @@ -196866,13 +203437,14 @@ OMIM:604899 a owl:Class ; IAO:0000142 PMID:11106732, PMID:9630229, PMID:9792694 ; - oboInOwl:hasDbXref UMLS:C1418486 ; oboInOwl:hasExactSynonym "PFDN5", "mm1", "prefoldin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5204 ; - skos:exactMatch HGNC_symbol:PFDN5 ; + skos:exactMatch UMLS:C1418486, + HGNC:8869, + HGNC_symbol:PFDN5 ; biolink:category biolink:Gene . OMIM:604900 a owl:Class ; @@ -196889,8 +203461,6 @@ OMIM:604900 a owl:Class ; PMID:9789033 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:615863 ; - oboInOwl:hasDbXref UMLS:C1414024, - UMLS:C4014516 ; oboInOwl:hasExactSynonym "DGAT1", "acyl-coa:diacylglycerol acyltransferase", "argp1", @@ -196898,7 +203468,10 @@ OMIM:604900 a owl:Class ; "diacylglycerol o-acyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8694 ; - skos:exactMatch HGNC_symbol:DGAT1 ; + skos:exactMatch UMLS:C1414024, + UMLS:C4014516, + HGNC:2843, + HGNC_symbol:DGAT1 ; biolink:category biolink:Gene . OMIM:604901 a owl:Class ; @@ -196909,9 +203482,9 @@ OMIM:604901 a owl:Class ; PMID:27535533, PMID:6894906 ; RO:0002525 CHR:9606chr16q22 ; - oboInOwl:hasDbXref UMLS:C1858051 ; oboInOwl:hasExactSynonym "NAIC", "north american indian childhood cirrhosis" ; + skos:exactMatch UMLS:C1858051 ; biolink:category biolink:Disease . OMIM:604902 a owl:Class ; @@ -196922,7 +203495,6 @@ OMIM:604902 a owl:Class ; PMID:8943358 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:616202 ; - oboInOwl:hasDbXref UMLS:C1332448 ; oboInOwl:hasExactSynonym "BRF1", "brf", "brf1 subunit of RNA polymerase 3 transcription initiation factor", @@ -196935,21 +203507,24 @@ OMIM:604902 a owl:Class ; "transcription factor iiib, 90-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2972 ; - skos:exactMatch HGNC_symbol:BRF1 ; + skos:exactMatch UMLS:C1332448, + HGNC:11551, + HGNC_symbol:BRF1 ; biolink:category biolink:Gene . OMIM:604903 a owl:Class ; rdfs:label "TAF1A" ; IAO:0000142 PMID:10894955, PMID:7801123 ; - oboInOwl:hasDbXref UMLS:C1420569 ; oboInOwl:hasExactSynonym "TAF1A", "sl1, 48-kd subunit", "tata box-binding protein-associated factor 1a", "tbp-associated factor, RNA polymerase i, 48-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9015 ; - skos:exactMatch HGNC_symbol:TAF1A ; + skos:exactMatch UMLS:C1420569, + HGNC:11532, + HGNC_symbol:TAF1A ; biolink:category biolink:Gene . OMIM:604904 a owl:Class ; @@ -196958,28 +203533,30 @@ OMIM:604904 a owl:Class ; PMID:21921198, PMID:21921199, PMID:7801123 ; - oboInOwl:hasDbXref UMLS:C1420570 ; oboInOwl:hasExactSynonym "TAF1B", "sl1, 63-kd subunit", "tata box-binding protein-associated factor 1b", "tbp-associated factor, RNA polymerase i, 63-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9014 ; - skos:exactMatch HGNC_symbol:TAF1B ; + skos:exactMatch UMLS:C1420570, + HGNC:11533, + HGNC_symbol:TAF1B ; biolink:category biolink:Gene . OMIM:604905 a owl:Class ; rdfs:label "TAF1C" ; IAO:0000142 PMID:10894955, PMID:7801123 ; - oboInOwl:hasDbXref UMLS:C1420571 ; oboInOwl:hasExactSynonym "TAF1C", "sl1, 110-kd subunit", "tata box-binding protein-associated factor 1c", "tbp-associated factor, RNA polymerase i, 110-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9013 ; - skos:exactMatch HGNC_symbol:TAF1C ; + skos:exactMatch UMLS:C1420571, + HGNC:11534, + HGNC_symbol:TAF1C ; biolink:category biolink:Gene . OMIM:604907 a owl:Class ; @@ -197003,25 +203580,27 @@ OMIM:604907 a owl:Class ; PMID:9311921 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:609529 ; - oboInOwl:hasDbXref UMLS:C1425349 ; oboInOwl:hasExactSynonym "TNFRSF13B", "transmembrane activator and caml interactor", "tumor necrosis factor receptor superfamily, member 13b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23495 ; - skos:exactMatch HGNC_symbol:TNFRSF13B ; + skos:exactMatch UMLS:C1425349, + HGNC:18153, + HGNC_symbol:TNFRSF13B ; biolink:category biolink:Gene . OMIM:604908 a owl:Class ; rdfs:label "PPP4R1" ; IAO:0000142 PMID:10026142 ; - oboInOwl:hasDbXref UMLS:C1418851 ; oboInOwl:hasExactSynonym "PPP4R1", "pp4r1", "protein phosphatase 4, regulatory subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9989 ; - skos:exactMatch HGNC_symbol:PPP4R1 ; + skos:exactMatch UMLS:C1418851, + HGNC:9320, + HGNC_symbol:PPP4R1 ; biolink:category biolink:Gene . OMIM:604909 a owl:Class ; @@ -197033,14 +203612,15 @@ OMIM:604909 a owl:Class ; PMID:31512373 ; RO:0002525 CHR:9606chr12q15 ; RO:0003303 OMIM:618608 ; - oboInOwl:hasDbXref UMLS:C1417764, - UMLS:C5231426 ; oboInOwl:hasExactSynonym "CNOT2", "ccr4-not transcription complex, subunit 2", "negative regulator of transcription 2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4848 ; - skos:exactMatch HGNC_symbol:CNOT2 ; + skos:exactMatch UMLS:C1417764, + UMLS:C5231426, + HGNC:7878, + HGNC_symbol:CNOT2 ; biolink:category biolink:Gene . OMIM:604910 a owl:Class ; @@ -197053,27 +203633,29 @@ OMIM:604910 a owl:Class ; PMID:32299921 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:618672 ; - oboInOwl:hasDbXref UMLS:C1417765, - UMLS:C5231456 ; oboInOwl:hasExactSynonym "CNOT3", "ccr4-not transcription complex, subunit 3", "negative regulator of transcription 3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4849 ; - skos:exactMatch HGNC_symbol:CNOT3 ; + skos:exactMatch UMLS:C1417765, + UMLS:C5231456, + HGNC:7879, + HGNC_symbol:CNOT3 ; biolink:category biolink:Gene . OMIM:604911 a owl:Class ; rdfs:label "CNOT4" ; IAO:0000142 PMID:10637334, PMID:19346402 ; - oboInOwl:hasDbXref UMLS:C1417766 ; oboInOwl:hasExactSynonym "CNOT4", "ccr4-not transcription complex, subunit 4", "negative regulator of transcription 4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4850 ; - skos:exactMatch HGNC_symbol:CNOT4 ; + skos:exactMatch UMLS:C1417766, + HGNC:7880, + HGNC_symbol:CNOT4 ; biolink:category biolink:Gene . OMIM:604912 a owl:Class ; @@ -197086,7 +203668,6 @@ OMIM:604912 a owl:Class ; PMID:9774672 ; RO:0002525 CHR:9606chr8q24.12 ; RO:0003303 OMIM:615599 ; - oboInOwl:hasDbXref UMLS:C1336565 ; oboInOwl:hasExactSynonym "TAF2", "cofactor of initiator function, 150-kd subunit", "taf2 RNA polymerase ii, tata box-binding protein-associated factor, 150-kd", @@ -197094,7 +203675,9 @@ OMIM:604912 a owl:Class ; "tbp-associated factor, RNA polymerase ii, 150-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6873 ; - skos:exactMatch HGNC_symbol:TAF2 ; + skos:exactMatch UMLS:C1336565, + HGNC:11536, + HGNC_symbol:TAF2 ; biolink:category biolink:Gene . OMIM:604913 a owl:Class ; @@ -197102,14 +203685,15 @@ OMIM:604913 a owl:Class ; IAO:0000142 PMID:10637334, PMID:15107851, PMID:7791755 ; - oboInOwl:hasDbXref UMLS:C1422407 ; oboInOwl:hasExactSynonym "CNOT7", "carbon catabolite repressor 4-associated factor 1", "ccr4-associated factor 1", "ccr4-not transcription complex, subunit 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29883 ; - skos:exactMatch HGNC_symbol:CNOT7 ; + skos:exactMatch UMLS:C1422407, + HGNC:14101, + HGNC_symbol:CNOT7 ; biolink:category biolink:Gene . OMIM:604914 a owl:Class ; @@ -197118,26 +203702,28 @@ OMIM:604914 a owl:Class ; PMID:17947579, PMID:19574390, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1426187 ; oboInOwl:hasExactSynonym "JMJD6", "jumonji domain-containing protein 6", "phosphatidylserine receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23210 ; - skos:exactMatch HGNC_symbol:JMJD6 ; + skos:exactMatch UMLS:C1426187, + HGNC:19355, + HGNC_symbol:JMJD6 ; biolink:category biolink:Gene . OMIM:604915 a owl:Class ; rdfs:label "MAP3K13" ; IAO:0000142 PMID:17095700, PMID:9353328 ; - oboInOwl:hasDbXref UMLS:C1417012 ; oboInOwl:hasExactSynonym "MAP3K13", "leucine zipper-bearing kinase", "mitogen-activated protein kinase kinase kinase 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9175 ; - skos:exactMatch HGNC_symbol:MAP3K13 ; + skos:exactMatch UMLS:C1417012, + HGNC:6852, + HGNC_symbol:MAP3K13 ; biolink:category biolink:Gene . OMIM:604916 a owl:Class ; @@ -197148,9 +203734,9 @@ OMIM:604916 a owl:Class ; PMID:23591295, PMID:27552167, PMID:9024570 ; - oboInOwl:hasDbXref UMLS:C1858043 ; oboInOwl:hasExactSynonym "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation", - "okamoto syndrome" . + "okamoto syndrome" ; + skos:exactMatch UMLS:C1858043 . OMIM:604917 a owl:Class ; rdfs:label "CNOT1" ; @@ -197161,15 +203747,16 @@ OMIM:604917 a owl:Class ; PMID:32553196 ; RO:0002525 CHR:9606chr16q21 ; RO:0003303 OMIM:619033 ; - oboInOwl:hasDbXref UMLS:C1417763, - UMLS:C5193131, - UMLS:C5436647 ; oboInOwl:hasExactSynonym "CNOT1", "ccr4-not transcription complex, subunit 1", "negative regulator of transcription 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23019 ; - skos:exactMatch HGNC_symbol:CNOT1 ; + skos:exactMatch UMLS:C1417763, + UMLS:C5193131, + UMLS:C5436647, + HGNC:7877, + HGNC_symbol:CNOT1 ; biolink:category biolink:Gene . OMIM:604918 a owl:Class ; @@ -197182,21 +203769,22 @@ OMIM:604918 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr7q21.11 ; RO:0003303 OMIM:608027 ; - oboInOwl:hasDbXref UMLS:C1421976 ; oboInOwl:hasExactSynonym "PCLO", "piccolo presynaptic cytomatrix protein", "piccolo, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27445 ; - skos:exactMatch HGNC_symbol:PCLO ; + skos:exactMatch UMLS:C1421976, + HGNC:13406, + HGNC_symbol:PCLO ; biolink:category biolink:Gene . OMIM:604919 a owl:Class ; rdfs:label "becker nevus syndrome" ; IAO:0000142 PMID:7640190, PMID:9024572 ; - oboInOwl:hasDbXref UMLS:C1858042 ; - oboInOwl:hasExactSynonym "becker nevus syndrome" . + oboInOwl:hasExactSynonym "becker nevus syndrome" ; + skos:exactMatch UMLS:C1858042 . OMIM:604920 a owl:Class ; IAO:0100001 OMIM:603218 ; @@ -197205,7 +203793,6 @@ OMIM:604920 a owl:Class ; OMIM:604921 a owl:Class ; rdfs:label "MAP4K3" ; IAO:0000142 PMID:9275185 ; - oboInOwl:hasDbXref UMLS:C1417020 ; oboInOwl:hasExactSynonym "MAP4K3", "germinal center kinase-like kinase", "mapkkkk3", @@ -197213,37 +203800,41 @@ OMIM:604921 a owl:Class ; "rab8-interacting protein-like 1, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8491 ; - skos:exactMatch HGNC_symbol:MAP4K3 ; + skos:exactMatch UMLS:C1417020, + HGNC:6865, + HGNC_symbol:MAP4K3 ; biolink:category biolink:Gene . OMIM:604922 a owl:Class ; rdfs:label "cortical defects, wormian bones, and dentinogenesis imperfecta" ; IAO:0000142 PMID:10544232 ; - oboInOwl:hasDbXref UMLS:C1858032 ; - oboInOwl:hasExactSynonym "cortical defects, wormian bones, and dentinogenesis imperfecta" . + oboInOwl:hasExactSynonym "cortical defects, wormian bones, and dentinogenesis imperfecta" ; + skos:exactMatch UMLS:C1858032 . OMIM:604923 a owl:Class ; rdfs:label "MAP4K5" ; IAO:0000142 PMID:9038372 ; - oboInOwl:hasDbXref UMLS:C1417021 ; oboInOwl:hasExactSynonym "MAP4K5", "mapkkkk5", "mitogen-activated protein kinase kinase kinase kinase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11183 ; - skos:exactMatch HGNC_symbol:MAP4K5 ; + skos:exactMatch UMLS:C1417021, + HGNC:6867, + HGNC_symbol:MAP4K5 ; biolink:category biolink:Gene . OMIM:604924 a owl:Class ; rdfs:label "PHAX" ; IAO:0000142 PMID:10786834 ; - oboInOwl:hasDbXref UMLS:C1419588 ; oboInOwl:hasExactSynonym "PHAX", "phosphorylated adaptor for RNA export", "rna, u small nuclear, export adaptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51808 ; - skos:exactMatch HGNC_symbol:PHAX ; + skos:exactMatch UMLS:C1419588, + HGNC:10241, + HGNC_symbol:PHAX ; biolink:category biolink:Gene . OMIM:604925 a owl:Class ; @@ -197252,7 +203843,6 @@ OMIM:604925 a owl:Class ; PMID:11520070, PMID:14574414, PMID:9341137 ; - oboInOwl:hasDbXref UMLS:C1419221 ; oboInOwl:hasExactSynonym "RABAC1", "pra1 domain family, member 1", "prenylated rab acceptor 1", @@ -197260,7 +203850,9 @@ OMIM:604925 a owl:Class ; "yip3, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10567 ; - skos:exactMatch HGNC_symbol:RABAC1 ; + skos:exactMatch UMLS:C1419221, + HGNC:9794, + HGNC_symbol:RABAC1 ; biolink:category biolink:Gene . OMIM:604926 a owl:Class ; @@ -197275,7 +203867,6 @@ OMIM:604927 a owl:Class ; PMID:9765293 ; RO:0002525 CHR:9606chr18q23 ; RO:0003303 OMIM:604168 ; - oboInOwl:hasDbXref UMLS:C1413790 ; oboInOwl:hasExactSynonym "CTDP1", "c-terminal domain of RNA polymerase 2 subunit a, phosphatase of, subunit 1", "ctd of polr2a, phosphatase of, subunit 1", @@ -197285,7 +203876,9 @@ OMIM:604927 a owl:Class ; "transcription factor iif-associating ctd phosphatase 1, isoform a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9150 ; - skos:exactMatch HGNC_symbol:CTDP1 ; + skos:exactMatch UMLS:C1413790, + HGNC:2498, + HGNC_symbol:CTDP1 ; biolink:category biolink:Gene . OMIM:604929 a owl:Class ; @@ -197297,7 +203890,6 @@ OMIM:604930 a owl:Class ; IAO:0000142 PMID:11557983, PMID:18093944, PMID:9737977 ; - oboInOwl:hasDbXref UMLS:C1334864 ; oboInOwl:hasExactSynonym "NCK2", "grb4", "nck adaptor protein 2", @@ -197305,18 +203897,21 @@ OMIM:604930 a owl:Class ; "noncatalytic region of tyrosine kinase, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8440 ; - skos:exactMatch HGNC_symbol:NCK2 ; + skos:exactMatch UMLS:C1334864, + HGNC:7665, + HGNC_symbol:NCK2 ; biolink:category biolink:Gene . OMIM:604932 a owl:Class ; rdfs:label "PKIG" ; IAO:0000142 PMID:9218452 ; - oboInOwl:hasDbXref UMLS:C1418608 ; oboInOwl:hasExactSynonym "PKIG", "protein kinase, camp-dependent catalytic, inhibitor gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11142 ; - skos:exactMatch HGNC_symbol:PKIG ; + skos:exactMatch UMLS:C1418608, + HGNC:9019, + HGNC_symbol:PKIG ; biolink:category biolink:Gene . OMIM:604933 a owl:Class ; @@ -197343,17 +203938,18 @@ OMIM:604933 a owl:Class ; PMID:9737967 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:613659 ; - oboInOwl:hasDbXref UMLS:C0476089, - UMLS:C1417505, - UMLS:C1860985, - UMLS:C3272841 ; oboInOwl:hasExactSynonym "MUTYH", "muty DNA glycosylase", "muty, e. coli, homolog of", "myh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4595 ; - skos:exactMatch HGNC_symbol:MUTYH ; + skos:exactMatch UMLS:C0476089, + UMLS:C1417505, + UMLS:C1860985, + UMLS:C3272841, + HGNC:7527, + HGNC_symbol:MUTYH ; biolink:category biolink:Gene . OMIM:604934 a owl:Class ; @@ -197373,13 +203969,14 @@ OMIM:604934 a owl:Class ; PMID:8706133 ; RO:0002525 CHR:9606chr1q42.3 ; RO:0003303 OMIM:244460 ; - oboInOwl:hasDbXref UMLS:C1420597 ; oboInOwl:hasExactSynonym "TBCE", "cofactor e", "tubulin-specific chaperone e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6905 ; - skos:exactMatch HGNC_symbol:TBCE ; + skos:exactMatch UMLS:C1420597, + HGNC:11582, + HGNC_symbol:TBCE ; biolink:category biolink:Gene . OMIM:604935 a owl:Class ; @@ -197391,12 +203988,13 @@ OMIM:604935 a owl:Class ; PMID:12609607, PMID:29681102, PMID:9490411 ; - oboInOwl:hasDbXref UMLS:C1414087 ; oboInOwl:hasExactSynonym "DMRT2", "doublesex- and mab3-related transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10655 ; - skos:exactMatch HGNC_symbol:DMRT2 ; + skos:exactMatch UMLS:C1414087, + HGNC:2935, + HGNC_symbol:DMRT2 ; biolink:category biolink:Gene . OMIM:604936 a owl:Class ; @@ -197417,14 +204015,15 @@ OMIM:604936 a owl:Class ; PMID:9133416, PMID:9529246, PMID:9922396 ; - oboInOwl:hasDbXref UMLS:C1416643 ; oboInOwl:hasExactSynonym "KIR2DL1", "cd158a", "killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1", "nk-associated transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3802 ; - skos:exactMatch HGNC_symbol:KIR2DL1 ; + skos:exactMatch UMLS:C1416643, + HGNC:6329, + HGNC_symbol:KIR2DL1 ; biolink:category biolink:Gene . OMIM:604937 a owl:Class ; @@ -197436,14 +204035,15 @@ OMIM:604937 a owl:Class ; PMID:7716543, PMID:7749980, PMID:8662091 ; - oboInOwl:hasDbXref UMLS:C1416644 ; oboInOwl:hasExactSynonym "KIR2DL2", "cd158b1", "killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2", "nk-associated transcript 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3803 ; - skos:exactMatch HGNC_symbol:KIR2DL2 ; + skos:exactMatch UMLS:C1416644, + HGNC:6330, + HGNC_symbol:KIR2DL2 ; biolink:category biolink:Gene . OMIM:604938 a owl:Class ; @@ -197454,7 +204054,6 @@ OMIM:604938 a owl:Class ; PMID:7716543, PMID:8662091, PMID:9922396 ; - oboInOwl:hasDbXref UMLS:C1416645 ; oboInOwl:hasExactSynonym "KIR2DL3", "cd158b2", "killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3", @@ -197465,7 +204064,9 @@ OMIM:604938 a owl:Class ; "p58" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3804 ; - skos:exactMatch HGNC_symbol:KIR2DL3 ; + skos:exactMatch UMLS:C1416645, + HGNC:6331, + HGNC_symbol:KIR2DL3 ; biolink:category biolink:Gene . OMIM:604939 a owl:Class ; @@ -197475,14 +204076,15 @@ OMIM:604939 a owl:Class ; PMID:21323541, PMID:21323563, PMID:7721806 ; - oboInOwl:hasDbXref UMLS:C1418626 ; oboInOwl:hasExactSynonym "PLA2R1", "phospholipase a2 receptor 1", "phospholipase a2 receptor, 180-kd", "pla2r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22925 ; - skos:exactMatch HGNC_symbol:PLA2R1 ; + skos:exactMatch UMLS:C1418626, + HGNC:9042, + HGNC_symbol:PLA2R1 ; biolink:category biolink:Gene . OMIM:604940 a owl:Class ; @@ -197493,26 +204095,28 @@ OMIM:604941 a owl:Class ; rdfs:label "PPP2R2A" ; IAO:0000142 PMID:1849734, PMID:18922469 ; - oboInOwl:hasDbXref UMLS:C1418838 ; oboInOwl:hasExactSynonym "PPP2R2A", "b55-alpha", "pr55-alpha", "protein phosphatase 2, regulatory subunit b, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5520 ; - skos:exactMatch HGNC_symbol:PPP2R2A ; + skos:exactMatch UMLS:C1418838, + HGNC:9304, + HGNC_symbol:PPP2R2A ; biolink:category biolink:Gene . OMIM:604942 a owl:Class ; rdfs:label "SNPH" ; IAO:0000142 PMID:10707983, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1423840 ; oboInOwl:hasExactSynonym "SNPH", "syntaphilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9751 ; - skos:exactMatch HGNC_symbol:SNPH ; + skos:exactMatch UMLS:C1423840, + HGNC:15931, + HGNC_symbol:SNPH ; biolink:category biolink:Gene . OMIM:604943 a owl:Class ; @@ -197532,9 +204136,6 @@ OMIM:604943 a owl:Class ; PMID:25262649 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:613865 ; - oboInOwl:hasDbXref UMLS:C1822756, - UMLS:C3151230, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "SLC26A5", "prestin", "slc26a5a", @@ -197544,20 +204145,25 @@ OMIM:604943 a owl:Class ; "solute carrier family 26, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375611 ; - skos:exactMatch HGNC_symbol:SLC26A5 ; + skos:exactMatch UMLS:C1822756, + UMLS:C3151230, + UMLS:C4015968, + HGNC:9359, + HGNC_symbol:SLC26A5 ; biolink:category biolink:Gene . OMIM:604944 a owl:Class ; rdfs:label "PPP2R3A" ; IAO:0000142 PMID:8392071 ; - oboInOwl:hasDbXref UMLS:C1418841 ; oboInOwl:hasExactSynonym "PPP2R3A", "pr130", "pr72", "protein phosphatase 2, regulatory subunit b-double prime, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5523 ; - skos:exactMatch HGNC_symbol:PPP2R3A ; + skos:exactMatch UMLS:C1418841, + HGNC:9307, + HGNC_symbol:PPP2R3A ; biolink:category biolink:Gene . OMIM:604945 a owl:Class ; @@ -197569,14 +204175,15 @@ OMIM:604945 a owl:Class ; PMID:7749980, PMID:8946682, PMID:9922396 ; - oboInOwl:hasDbXref UMLS:C1416646 ; oboInOwl:hasExactSynonym "KIR2DL4", "cd158d", "killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4", "kir103as" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3805 ; - skos:exactMatch HGNC_symbol:KIR2DL4 ; + skos:exactMatch UMLS:C1416646, + HGNC:6332, + HGNC_symbol:KIR2DL4 ; biolink:category biolink:Gene . OMIM:604947 a owl:Class ; @@ -197587,7 +204194,6 @@ OMIM:604947 a owl:Class ; PMID:8662091, PMID:8760804, PMID:9922396 ; - oboInOwl:hasDbXref UMLS:C1416653 ; oboInOwl:hasExactSynonym "KIR3DL2", "cd158k", "killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2", @@ -197596,7 +204202,9 @@ OMIM:604947 a owl:Class ; "nk-associated transcript 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3812 ; - skos:exactMatch HGNC_symbol:KIR3DL2 ; + skos:exactMatch UMLS:C1416653, + HGNC:6339, + HGNC_symbol:KIR3DL2 ; biolink:category biolink:Gene . OMIM:604948 a owl:Class ; @@ -197604,13 +204212,14 @@ OMIM:604948 a owl:Class ; IAO:0000142 PMID:11713530, PMID:19119186, PMID:9827804 ; - oboInOwl:hasDbXref UMLS:C1414928 ; oboInOwl:hasExactSynonym "GADD45B", "growth arrest- and DNA damage-inducible gene, beta", "myd118, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4616 ; - skos:exactMatch HGNC_symbol:GADD45B ; + skos:exactMatch UMLS:C1414928, + HGNC:4096, + HGNC_symbol:GADD45B ; biolink:category biolink:Gene . OMIM:604949 a owl:Class ; @@ -197623,52 +204232,56 @@ OMIM:604949 a owl:Class ; PMID:21390129, PMID:7681987, PMID:9827804 ; - oboInOwl:hasDbXref UMLS:C1414929 ; oboInOwl:hasExactSynonym "GADD45G", "gadd-related protein, 17-kd", "growth arrest- and DNA damage-inducible gene, gamma", "oig37, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10912 ; - skos:exactMatch HGNC_symbol:GADD45G ; + skos:exactMatch UMLS:C1414929, + HGNC:4097, + HGNC_symbol:GADD45G ; biolink:category biolink:Gene . OMIM:604950 a owl:Class ; rdfs:label "PHTF1" ; IAO:0000142 PMID:10395808, PMID:10729229 ; - oboInOwl:hasDbXref UMLS:C1418542 ; oboInOwl:hasExactSynonym "PHTF1", "phtf", "putative homeodomain transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10745 ; - skos:exactMatch HGNC_symbol:PHTF1 ; + skos:exactMatch UMLS:C1418542, + HGNC:8939, + HGNC_symbol:PHTF1 ; biolink:category biolink:Gene . OMIM:604951 a owl:Class ; rdfs:label "PGLS" ; IAO:0000142 PMID:10518023 ; - oboInOwl:hasDbXref UMLS:C1418514 ; oboInOwl:hasExactSynonym "6-phosphogluconolactonase", "6pgl", "PGLS" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25796 ; - skos:exactMatch HGNC_symbol:PGLS ; + skos:exactMatch UMLS:C1418514, + HGNC:8903, + HGNC_symbol:PGLS ; biolink:category biolink:Gene . OMIM:604952 a owl:Class ; rdfs:label "KIR2DS1" ; IAO:0000142 PMID:8627176, PMID:9922396 ; - oboInOwl:hasDbXref UMLS:C1416647 ; oboInOwl:hasExactSynonym "KIR2DS1", "cd158h", "killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3806 ; - skos:exactMatch HGNC_symbol:KIR2DS1 ; + skos:exactMatch UMLS:C1416647, + HGNC:6333, + HGNC_symbol:KIR2DS1 ; biolink:category biolink:Gene . OMIM:604953 a owl:Class ; @@ -197678,7 +204291,6 @@ OMIM:604953 a owl:Class ; PMID:7749980, PMID:8627176, PMID:8662091 ; - oboInOwl:hasDbXref UMLS:C1416648 ; oboInOwl:hasExactSynonym "KIR2DS2", "cd158j", "killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2", @@ -197687,19 +204299,22 @@ OMIM:604953 a owl:Class ; "nk-associated transcript 5delig1/ig2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100132285 ; - skos:exactMatch HGNC_symbol:KIR2DS2 ; + skos:exactMatch UMLS:C1416648, + HGNC:6334, + HGNC_symbol:KIR2DS2 ; biolink:category biolink:Gene . OMIM:604954 a owl:Class ; rdfs:label "KIR2DS3" ; IAO:0000142 PMID:8662091 ; - oboInOwl:hasDbXref UMLS:C1416649 ; oboInOwl:hasExactSynonym "KIR2DS3", "killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3", "nk-associated transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3808 ; - skos:exactMatch HGNC_symbol:KIR2DS3 ; + skos:exactMatch UMLS:C1416649, + HGNC:6335, + HGNC_symbol:KIR2DS3 ; biolink:category biolink:Gene . OMIM:604955 a owl:Class ; @@ -197708,7 +204323,6 @@ OMIM:604955 a owl:Class ; PMID:7749980, PMID:8765026, PMID:9922396 ; - oboInOwl:hasDbXref UMLS:C1416650 ; oboInOwl:hasExactSynonym "KIR2DS4", "cd158i", "killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4", @@ -197716,21 +204330,24 @@ OMIM:604955 a owl:Class ; "nk-associated transcript 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3809 ; - skos:exactMatch HGNC_symbol:KIR2DS4 ; + skos:exactMatch UMLS:C1416650, + HGNC:6336, + HGNC_symbol:KIR2DS4 ; biolink:category biolink:Gene . OMIM:604956 a owl:Class ; rdfs:label "KIR2DS5" ; IAO:0000142 PMID:8662091, PMID:9922396 ; - oboInOwl:hasDbXref UMLS:C1416651 ; oboInOwl:hasExactSynonym "KIR2DS5", "cd158g", "killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5", "nk-associated transcript 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3810 ; - skos:exactMatch HGNC_symbol:KIR2DS5 ; + skos:exactMatch UMLS:C1416651, + HGNC:6337, + HGNC_symbol:KIR2DS5 ; biolink:category biolink:Gene . OMIM:604957 a owl:Class ; @@ -197745,7 +204362,6 @@ OMIM:604958 a owl:Class ; PMID:19561591, PMID:28649782, PMID:9845365 ; - oboInOwl:hasDbXref UMLS:C1538907 ; oboInOwl:hasExactSynonym "ACTL6A", "actin-like 6a", "actin-related protein, beta", @@ -197754,7 +204370,9 @@ OMIM:604958 a owl:Class ; "brg1-associated factor, 53-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:86 ; - skos:exactMatch HGNC_symbol:ACTL6A ; + skos:exactMatch UMLS:C1538907, + HGNC:24124, + HGNC_symbol:ACTL6A ; biolink:category biolink:Gene . OMIM:604959 a owl:Class ; @@ -197764,7 +204382,6 @@ OMIM:604959 a owl:Class ; PMID:14699081, PMID:18192275, PMID:2398525 ; - oboInOwl:hasDbXref UMLS:C1321914 ; oboInOwl:hasExactSynonym "PMAIP1", "atl-derived pma-responsive gene", "noxa", @@ -197772,7 +204389,9 @@ OMIM:604959 a owl:Class ; "pma-induced protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5366 ; - skos:exactMatch HGNC_symbol:PMAIP1 ; + skos:exactMatch UMLS:C1321914, + HGNC:9108, + HGNC_symbol:PMAIP1 ; biolink:category biolink:Gene . OMIM:604960 a owl:Class ; @@ -197782,12 +204401,13 @@ OMIM:604960 a owl:Class ; PMID:21610094, PMID:23129763, PMID:9746365 ; - oboInOwl:hasDbXref UMLS:C1418242 ; oboInOwl:hasExactSynonym "PACSIN2", "protein kinase c and casein kinase substrate 1n neurons 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11252 ; - skos:exactMatch HGNC_symbol:PACSIN2 ; + skos:exactMatch UMLS:C1418242, + HGNC:8571, + HGNC_symbol:PACSIN2 ; biolink:category biolink:Gene . OMIM:604961 a owl:Class ; @@ -197800,7 +204420,6 @@ OMIM:604961 a owl:Class ; PMID:7935318 ; RO:0002525 CHR:9606chr2q31.2 ; RO:0003303 OMIM:610475 ; - oboInOwl:hasDbXref UMLS:C1418413 ; oboInOwl:hasExactSynonym "PDE11A", "pde11a1", "pde11a2", @@ -197808,21 +204427,24 @@ OMIM:604961 a owl:Class ; "phosphodiesterase 11a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50940 ; - skos:exactMatch HGNC_symbol:PDE11A ; + skos:exactMatch UMLS:C1418413, + HGNC:8773, + HGNC_symbol:PDE11A ; biolink:category biolink:Gene . OMIM:604962 a owl:Class ; rdfs:label "TRAT1" ; IAO:0000142 PMID:10663578, PMID:9687533 ; - oboInOwl:hasDbXref UMLS:C1710327 ; oboInOwl:hasExactSynonym "TRAT1", "t-cell antigen receptor-interacting molecule", "t-cell receptor-associated transmembrane adaptor 1", "tcr-interacting molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50852 ; - skos:exactMatch HGNC_symbol:TRAT1 ; + skos:exactMatch UMLS:C1710327, + HGNC:30698, + HGNC_symbol:TRAT1 ; biolink:category biolink:Gene . OMIM:604963 a owl:Class ; @@ -197831,26 +204453,28 @@ OMIM:604963 a owl:Class ; PMID:21602801, PMID:25595774, PMID:9707603 ; - oboInOwl:hasDbXref UMLS:C1418515 ; oboInOwl:hasExactSynonym "PGLYRP1", "peptidoglycan recognition protein 1", "pglyrp", "pgrp, short" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8993 ; - skos:exactMatch HGNC_symbol:PGLYRP1 ; + skos:exactMatch UMLS:C1418515, + HGNC:8904, + HGNC_symbol:PGLYRP1 ; biolink:category biolink:Gene . OMIM:604964 a owl:Class ; rdfs:label "SIT1" ; IAO:0000142 PMID:10209036, PMID:11491537 ; - oboInOwl:hasDbXref UMLS:C1539774 ; oboInOwl:hasExactSynonym "SIT1", "shp2-interacting transmembrane adaptor protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27240 ; - skos:exactMatch HGNC_symbol:SIT1 ; + skos:exactMatch UMLS:C1539774, + HGNC:17710, + HGNC_symbol:SIT1 ; biolink:category biolink:Gene . OMIM:604965 a owl:Class ; @@ -197864,14 +204488,15 @@ OMIM:604965 a owl:Class ; PMID:8816758 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:614868 ; - oboInOwl:hasDbXref UMLS:C1420481 ; oboInOwl:hasExactSynonym "STK4", "kinase responsive to stress 2", "mammalian sterile 20-like 1", "serine/threonine protein kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6789 ; - skos:exactMatch HGNC_symbol:STK4 ; + skos:exactMatch UMLS:C1420481, + HGNC:11408, + HGNC_symbol:STK4 ; biolink:category biolink:Gene . OMIM:604969 a owl:Class ; @@ -197879,14 +204504,15 @@ OMIM:604969 a owl:Class ; IAO:0000142 PMID:12652296, PMID:21669874, PMID:9195899 ; - oboInOwl:hasDbXref UMLS:C1822730 ; oboInOwl:hasExactSynonym "SKAP1", "src family-associated phosphoprotein 1", "src kinase-associated phosphoprotein 1", "src kinase-associated phosphoprotein, 55-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8631 ; - skos:exactMatch HGNC_symbol:SKAP1 ; + skos:exactMatch UMLS:C1822730, + HGNC:15605, + HGNC_symbol:SKAP1 ; biolink:category biolink:Gene . OMIM:604970 a owl:Class ; @@ -197908,7 +204534,6 @@ OMIM:604970 a owl:Class ; PMID:9809983, PMID:9858806, PMID:9931403 ; - oboInOwl:hasDbXref UMLS:C1420464 ; oboInOwl:hasExactSynonym "AURKB", "aim1, rat, homolog of", "aurora kinase B", @@ -197917,7 +204542,9 @@ OMIM:604970 a owl:Class ; "serine/threonine protein kinase 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9212 ; - skos:exactMatch HGNC_symbol:AURKB ; + skos:exactMatch UMLS:C1420464, + HGNC:11390, + HGNC_symbol:AURKB ; biolink:category biolink:Gene . OMIM:604971 a owl:Class ; @@ -197925,12 +204552,13 @@ OMIM:604971 a owl:Class ; IAO:0000142 PMID:8797820, PMID:9250874, PMID:9799236 ; - oboInOwl:hasDbXref UMLS:C1417085 ; oboInOwl:hasExactSynonym "MDFI", "myod family inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4188 ; - skos:exactMatch HGNC_symbol:MDFI ; + skos:exactMatch UMLS:C1417085, + HGNC:6967, + HGNC_symbol:MDFI ; biolink:category biolink:Gene . OMIM:604972 a owl:Class ; @@ -197939,7 +204567,6 @@ OMIM:604972 a owl:Class ; PMID:10702681, PMID:1321066, PMID:9829972 ; - oboInOwl:hasDbXref UMLS:C1335085 ; oboInOwl:hasExactSynonym "ORC3", "latheo, drosophila, homolog of", "orc3-like", @@ -197947,7 +204574,9 @@ OMIM:604972 a owl:Class ; "origin recognition complex, subunit 3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23595 ; - skos:exactMatch HGNC_symbol:ORC3 ; + skos:exactMatch UMLS:C1335085, + HGNC:8489, + HGNC_symbol:ORC3 ; biolink:category biolink:Gene . OMIM:604973 a owl:Class ; @@ -197962,14 +204591,15 @@ OMIM:604973 a owl:Class ; PMID:9694814 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:613860 ; - oboInOwl:hasDbXref UMLS:C1414561 ; oboInOwl:hasExactSynonym "FCN3", "collagen/fibrinogen domain-containing lectin 3 p35", "ficolin 3", "hakata antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8547 ; - skos:exactMatch HGNC_symbol:FCN3 ; + skos:exactMatch UMLS:C1414561, + HGNC:3625, + HGNC_symbol:FCN3 ; biolink:category biolink:Gene . OMIM:604975 a owl:Class ; @@ -197993,7 +204623,6 @@ OMIM:604975 a owl:Class ; PMID:9755172 ; RO:0002525 CHR:9606chr12p12.1 ; RO:0003303 OMIM:616803 ; - oboInOwl:hasDbXref UMLS:C1420328 ; oboInOwl:hasExactSynonym "SOX5", "l-sox5", "long sox5", @@ -198001,7 +204630,9 @@ OMIM:604975 a owl:Class ; "sry-related hmg-box gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6660 ; - skos:exactMatch HGNC_symbol:SOX5 ; + skos:exactMatch UMLS:C1420328, + HGNC:11201, + HGNC_symbol:SOX5 ; biolink:category biolink:Gene . OMIM:604976 a owl:Class ; @@ -198013,13 +204644,14 @@ OMIM:604976 a owl:Class ; PMID:20473479 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:619030 ; - oboInOwl:hasDbXref UMLS:C1418906, - UMLS:C5436642 ; oboInOwl:hasExactSynonym "PRKAG3", "protein kinase, amp-activated, noncatalytic, gamma-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53632 ; - skos:exactMatch HGNC_symbol:PRKAG3 ; + skos:exactMatch UMLS:C1418906, + UMLS:C5436642, + HGNC:9387, + HGNC_symbol:PRKAG3 ; biolink:category biolink:Gene . OMIM:604977 a owl:Class ; @@ -198027,40 +204659,43 @@ OMIM:604977 a owl:Class ; IAO:0000142 PMID:8012361, PMID:8132574, PMID:9812991 ; - oboInOwl:hasDbXref UMLS:C1420471 ; oboInOwl:hasExactSynonym "STK19", "hla-rp1", "serine/threonine protein kinase 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8859 ; - skos:exactMatch HGNC_symbol:STK19 ; + skos:exactMatch UMLS:C1420471, + HGNC:11398, + HGNC_symbol:STK19 ; biolink:category biolink:Gene . OMIM:604978 a owl:Class ; rdfs:label "NUDT21" ; IAO:0000142 PMID:24814343, PMID:9659921 ; - oboInOwl:hasDbXref UMLS:C1826493 ; oboInOwl:hasExactSynonym "NUDT21", "cleavage and polyadenylation specificity factor 5", "nudix hydrolase 21", "precursor mrna cleavage factor im, 25-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11051 ; - skos:exactMatch HGNC_symbol:NUDT21 ; + skos:exactMatch UMLS:C1826493, + HGNC:13870, + HGNC_symbol:NUDT21 ; biolink:category biolink:Gene . OMIM:604979 a owl:Class ; rdfs:label "CPSF6" ; IAO:0000142 PMID:24196705, PMID:9659921 ; - oboInOwl:hasDbXref UMLS:C1422246 ; oboInOwl:hasExactSynonym "CPSF6", "cleavage and polyadenylation specificity factor 6", "precursor mrna cleavage factor im, 68-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11052 ; - skos:exactMatch HGNC_symbol:CPSF6 ; + skos:exactMatch UMLS:C1422246, + HGNC:13871, + HGNC_symbol:CPSF6 ; biolink:category biolink:Gene . OMIM:604980 a owl:Class ; @@ -198072,27 +204707,29 @@ OMIM:604980 a owl:Class ; PMID:9497316 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:619789 ; - oboInOwl:hasDbXref UMLS:C1419230 ; oboInOwl:hasExactSynonym "RACGAP1", "cyk4, c. elegans, homolog of", "rac gtpase-activating protein 1", "rac gtpase-activating protein, male germ cell" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29127 ; - skos:exactMatch HGNC_symbol:RACGAP1 ; + skos:exactMatch UMLS:C1419230, + HGNC:9804, + HGNC_symbol:RACGAP1 ; biolink:category biolink:Gene . OMIM:604981 a owl:Class ; rdfs:label "WBP4" ; IAO:0000142 PMID:8605874, PMID:9724750 ; - oboInOwl:hasDbXref UMLS:C1421486 ; oboInOwl:hasExactSynonym "WBP4", "formin-binding protein 21", "ww domain-containing binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11193 ; - skos:exactMatch HGNC_symbol:WBP4 ; + skos:exactMatch UMLS:C1421486, + HGNC:12739, + HGNC_symbol:WBP4 ; biolink:category biolink:Gene . OMIM:604982 a owl:Class ; @@ -198112,15 +204749,16 @@ OMIM:604982 a owl:Class ; PMID:9705234 ; RO:0002525 CHR:9606chr10q24.2 ; RO:0003303 OMIM:203300 ; - oboInOwl:hasDbXref UMLS:C1415707, - UMLS:C2931875 ; oboInOwl:hasExactSynonym "HPS1", "hps1 biogenesis of lysosomal organelles complex 3, subunit 1", "hps1 gene", "pale ear, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3257 ; - skos:exactMatch HGNC_symbol:HPS1 ; + skos:exactMatch UMLS:C1415707, + UMLS:C2931875, + HGNC:5163, + HGNC_symbol:HPS1 ; biolink:category biolink:Gene . OMIM:604983 a owl:Class ; @@ -198137,14 +204775,15 @@ OMIM:604983 a owl:Class ; PMID:9153213 ; RO:0002525 CHR:9606chr17q23.3 ; RO:0003303 OMIM:610131 ; - oboInOwl:hasDbXref UMLS:C1418732 ; oboInOwl:hasExactSynonym "POLG2", "polg, accessory subunit", "polg-beta", "polymerase, dna, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11232 ; - skos:exactMatch HGNC_symbol:POLG2 ; + skos:exactMatch UMLS:C1418732, + HGNC:9180, + HGNC_symbol:POLG2 ; biolink:category biolink:Gene . OMIM:604984 a owl:Class ; @@ -198153,14 +204792,15 @@ OMIM:604984 a owl:Class ; PMID:15304321, PMID:17114295, PMID:9353338 ; - oboInOwl:hasDbXref UMLS:C1420476 ; oboInOwl:hasExactSynonym "STK24", "mammalian sterile 20-like 3", "mammalian sterile 20-like 3, isoform B", "serine/threonine protein kinase 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8428 ; - skos:exactMatch HGNC_symbol:STK24 ; + skos:exactMatch UMLS:C1420476, + HGNC:11403, + HGNC_symbol:STK24 ; biolink:category biolink:Gene . OMIM:604986 a owl:Class ; @@ -198168,14 +204808,15 @@ OMIM:604986 a owl:Class ; IAO:0000142 PMID:14724641, PMID:15340083, PMID:9497340 ; - oboInOwl:hasDbXref UMLS:C1412819 ; oboInOwl:hasExactSynonym "BRAP", "brap2", "brca1-associated protein", "impedes mitogenic signal propagation" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8315 ; - skos:exactMatch HGNC_symbol:BRAP ; + skos:exactMatch UMLS:C1412819, + HGNC:1099, + HGNC_symbol:BRAP ; biolink:category biolink:Gene . OMIM:604987 a owl:Class ; @@ -198184,14 +204825,15 @@ OMIM:604987 a owl:Class ; PMID:18496526, PMID:20212065, PMID:26927798 ; - oboInOwl:hasDbXref UMLS:C1539100 ; oboInOwl:hasExactSynonym "CLEC5A", "c-type lectin domain family 5, member a", "lectin, c-type, superfamily member 5", "myeloid dap12-associating lectin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23601 ; - skos:exactMatch HGNC_symbol:CLEC5A ; + skos:exactMatch UMLS:C1539100, + HGNC:2054, + HGNC_symbol:CLEC5A ; biolink:category biolink:Gene . OMIM:604988 a owl:Class ; @@ -198199,7 +204841,6 @@ OMIM:604988 a owl:Class ; IAO:0000142 PMID:10048485, PMID:10873595, PMID:11932330 ; - oboInOwl:hasDbXref UMLS:C1420133 ; oboInOwl:hasExactSynonym "SLCO2B1", "organic anion transporter 2b1", "organic anion transporter B", @@ -198207,21 +204848,24 @@ OMIM:604988 a owl:Class ; "solute carrier organic anion transporter family, member 2b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11309 ; - skos:exactMatch HGNC_symbol:SLCO2B1 ; + skos:exactMatch UMLS:C1420133, + HGNC:10962, + HGNC_symbol:SLCO2B1 ; biolink:category biolink:Gene . OMIM:604989 a owl:Class ; rdfs:label "SPON1" ; IAO:0000142 PMID:14983046, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1420366 ; oboInOwl:hasExactSynonym "SPON1", "f-spondin, rat, homolog of", "kiaa0762", "spondin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10418 ; - skos:exactMatch HGNC_symbol:SPON1 ; + skos:exactMatch UMLS:C1420366, + HGNC:11252, + HGNC_symbol:SPON1 ; biolink:category biolink:Gene . OMIM:604990 a owl:Class ; @@ -198240,49 +204884,53 @@ OMIM:604990 a owl:Class ; PMID:9430655 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:612287 ; - oboInOwl:hasDbXref UMLS:C1420236 ; oboInOwl:hasExactSynonym "SLC9A3R1", "erm-binding phosphoprotein, 50-kd", "sodium/hydrogen exchanger regulatory factor 1", "solute carrier family 9, member 3, regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9368 ; - skos:exactMatch HGNC_symbol:SLC9A3R1 ; + skos:exactMatch UMLS:C1420236, + HGNC:11075, + HGNC_symbol:SLC9A3R1 ; biolink:category biolink:Gene . OMIM:604991 a owl:Class ; rdfs:label "PART1" ; IAO:0000142 PMID:10706094 ; - oboInOwl:hasDbXref UMLS:C1857983 ; oboInOwl:hasExactSynonym "PART1", "prostate androgen-regulated transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25859 ; - skos:exactMatch HGNC_symbol:PART1 ; + skos:exactMatch UMLS:C1857983, + HGNC:17263, + HGNC_symbol:PART1 ; biolink:category biolink:Gene . OMIM:604992 a owl:Class ; rdfs:label "SRL" ; IAO:0000142 PMID:2521635, PMID:2762314 ; - oboInOwl:hasDbXref UMLS:C1420403 ; oboInOwl:hasExactSynonym "SRL", "sarcalumenin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6345 ; - skos:exactMatch HGNC_symbol:SRL ; + skos:exactMatch UMLS:C1420403, + HGNC:11295, + HGNC_symbol:SRL ; biolink:category biolink:Gene . OMIM:604993 a owl:Class ; rdfs:label "PRPF18" ; IAO:0000142 PMID:9000057 ; - oboInOwl:hasDbXref UMLS:C1424924 ; oboInOwl:hasExactSynonym "PRPF18", "pre-mrna-processing factor 18", "precursor mrna-processing factor 18, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8559 ; - skos:exactMatch HGNC_symbol:PRPF18 ; + skos:exactMatch UMLS:C1424924, + HGNC:17351, + HGNC_symbol:PRPF18 ; biolink:category biolink:Gene . OMIM:604994 a owl:Class ; @@ -198290,13 +204938,14 @@ OMIM:604994 a owl:Class ; IAO:0000142 PMID:10773454, PMID:30894749, PMID:7720577 ; - oboInOwl:hasDbXref UMLS:C1420073 ; oboInOwl:hasExactSynonym "SIX2", "sine oculis homeobox, drosophila, homolog of, 2", "six homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10736 ; - skos:exactMatch HGNC_symbol:SIX2 ; + skos:exactMatch UMLS:C1420073, + HGNC:10888, + HGNC_symbol:SIX2 ; biolink:category biolink:Gene . OMIM:604995 a owl:Class ; @@ -198305,13 +204954,14 @@ OMIM:604995 a owl:Class ; PMID:11327718, PMID:8056831, PMID:9650585 ; - oboInOwl:hasDbXref UMLS:C1420142 ; oboInOwl:hasExactSynonym "SLC22A7", "organic anion transporter 2", "solute carrier family 22 (organic anion transporter), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10864 ; - skos:exactMatch HGNC_symbol:SLC22A7 ; + skos:exactMatch UMLS:C1420142, + HGNC:10971, + HGNC_symbol:SLC22A7 ; biolink:category biolink:Gene . OMIM:604996 a owl:Class ; @@ -198319,14 +204969,15 @@ OMIM:604996 a owl:Class ; IAO:0000142 PMID:10950925, PMID:7836447, PMID:7970700 ; - oboInOwl:hasDbXref UMLS:C1414876 ; oboInOwl:hasExactSynonym "FXYD3", "fxyd domain-containing ion transport regulator 3", "mammary tumor, 8-kd", "phospholemman-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5349 ; - skos:exactMatch HGNC_symbol:FXYD3 ; + skos:exactMatch UMLS:C1414876, + HGNC:4027, + HGNC_symbol:FXYD3 ; biolink:category biolink:Gene . OMIM:604997 a owl:Class ; @@ -198336,14 +204987,15 @@ OMIM:604997 a owl:Class ; PMID:15699069, PMID:20139980, PMID:9478921 ; - oboInOwl:hasDbXref UMLS:C1414130 ; oboInOwl:hasExactSynonym "DOK2", "docking protein 2", "docking protein, 56-kd", "p56dok" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9046 ; - skos:exactMatch HGNC_symbol:DOK2 ; + skos:exactMatch UMLS:C1414130, + HGNC:2991, + HGNC_symbol:DOK2 ; biolink:category biolink:Gene . OMIM:604998 a owl:Class ; @@ -198351,13 +205003,14 @@ OMIM:604998 a owl:Class ; IAO:0000142 PMID:12193581, PMID:7641687, PMID:9395448 ; - oboInOwl:hasDbXref UMLS:C1413098 ; oboInOwl:hasExactSynonym "CAMK1", "calcium/calmodulin-dependent protein kinase 1", "camki" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8536 ; - skos:exactMatch HGNC_symbol:CAMK1 ; + skos:exactMatch UMLS:C1413098, + HGNC:1459, + HGNC_symbol:CAMK1 ; biolink:category biolink:Gene . OMIM:604999 a owl:Class ; @@ -198370,13 +205023,14 @@ OMIM:604999 a owl:Class ; PMID:21695253, PMID:22503632, PMID:23897824 ; - oboInOwl:hasDbXref UMLS:C1423514 ; oboInOwl:hasExactSynonym "SHANK1", "sh3 and multiple ankyrin repeat domains 1", "somatostatin receptor-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50944 ; - skos:exactMatch HGNC_symbol:SHANK1 ; + skos:exactMatch UMLS:C1423514, + HGNC:15474, + HGNC_symbol:SHANK1 ; biolink:category biolink:Gene . OMIM:605000 a owl:Class ; @@ -198392,7 +205046,6 @@ OMIM:605000 a owl:Class ; PMID:7758584 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:615401 ; - oboInOwl:hasDbXref UMLS:C1413622 ; oboInOwl:hasExactSynonym "CORO1A", "coronin 1", "coronin 1a", @@ -198400,7 +205053,9 @@ OMIM:605000 a owl:Class ; "tryptophane aspartate-containing coat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11151 ; - skos:exactMatch HGNC_symbol:CORO1A ; + skos:exactMatch UMLS:C1413622, + HGNC:2252, + HGNC_symbol:CORO1A ; biolink:category biolink:Gene . OMIM:605001 a owl:Class ; @@ -198408,26 +205063,28 @@ OMIM:605001 a owl:Class ; IAO:0000142 PMID:10473614, PMID:16429146, PMID:22660330 ; - oboInOwl:hasDbXref UMLS:C1412400 ; oboInOwl:hasExactSynonym "ANGPTL2", "angiopoietin-like 2", "angiopoietin-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23452 ; - skos:exactMatch HGNC_symbol:ANGPTL2 ; + skos:exactMatch UMLS:C1412400, + HGNC:490, + HGNC_symbol:ANGPTL2 ; biolink:category biolink:Gene . OMIM:605002 a owl:Class ; rdfs:label "CORO2B" ; IAO:0000142 PMID:10224093, PMID:10231032 ; - oboInOwl:hasDbXref UMLS:C1413626 ; oboInOwl:hasExactSynonym "CORO2B", "coronin 2b", "coronin-like protein c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10391 ; - skos:exactMatch HGNC_symbol:CORO2B ; + skos:exactMatch UMLS:C1413626, + HGNC:2256, + HGNC_symbol:CORO2B ; biolink:category biolink:Gene . OMIM:605003 a owl:Class ; @@ -198436,15 +205093,16 @@ OMIM:605003 a owl:Class ; PMID:11979551, PMID:18799455, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1427200, - UMLS:C1857982 ; oboInOwl:hasExactSynonym "SENP6", "sentrin-specific protease family, member 6", "sumo1-specific protease 1", "susp1/tcba1 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26054 ; - skos:exactMatch HGNC_symbol:SENP6 ; + skos:exactMatch UMLS:C1427200, + UMLS:C1857982, + HGNC:20944, + HGNC_symbol:SENP6 ; biolink:category biolink:Gene . OMIM:605004 a owl:Class ; @@ -198490,12 +205148,13 @@ OMIM:605004 a owl:Class ; PMID:8710892, PMID:8994831, PMID:9809441 ; - oboInOwl:hasDbXref UMLS:C1415321 ; oboInOwl:hasExactSynonym "GSK3B", "glycogen synthase kinase 3-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2932 ; - skos:exactMatch HGNC_symbol:GSK3B ; + skos:exactMatch UMLS:C1415321, + HGNC:4617, + HGNC_symbol:GSK3B ; biolink:category biolink:Gene . OMIM:605005 a owl:Class ; @@ -198503,13 +205162,14 @@ OMIM:605005 a owl:Class ; IAO:0000142 PMID:10544240, PMID:20977886, PMID:21741600 ; - oboInOwl:hasDbXref UMLS:C1414957 ; oboInOwl:hasExactSynonym "GALNT7", "galnac transferase 7", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51809 ; - skos:exactMatch HGNC_symbol:GALNT7 ; + skos:exactMatch UMLS:C1414957, + HGNC:4129, + HGNC_symbol:GALNT7 ; biolink:category biolink:Gene . OMIM:605006 a owl:Class ; @@ -198517,12 +205177,13 @@ OMIM:605006 a owl:Class ; IAO:0000142 PMID:11237732, PMID:15681612, PMID:9635432 ; - oboInOwl:hasDbXref UMLS:C1423938 ; oboInOwl:hasExactSynonym "FRAT2", "frequently rearranged 1n advanced t-cell lymphomas 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23401 ; - skos:exactMatch HGNC_symbol:FRAT2 ; + skos:exactMatch UMLS:C1423938, + HGNC:16048, + HGNC_symbol:FRAT2 ; biolink:category biolink:Gene . OMIM:605007 a owl:Class ; @@ -198532,14 +205193,15 @@ OMIM:605007 a owl:Class ; PMID:15800624, PMID:15800625, PMID:19684582 ; - oboInOwl:hasDbXref UMLS:C1412211 ; oboInOwl:hasExactSynonym "ADAMTS5", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 5", "adamts11, formerly", "aggrecanase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11096 ; - skos:exactMatch HGNC_symbol:ADAMTS5 ; + skos:exactMatch UMLS:C1412211, + HGNC:221, + HGNC_symbol:ADAMTS5 ; biolink:category biolink:Gene . OMIM:605008 a owl:Class ; @@ -198547,12 +205209,13 @@ OMIM:605008 a owl:Class ; IAO:0000142 PMID:10464288, PMID:16129570, PMID:26686553 ; - oboInOwl:hasDbXref UMLS:C1412212 ; oboInOwl:hasExactSynonym "ADAMTS6", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11174 ; - skos:exactMatch HGNC_symbol:ADAMTS6 ; + skos:exactMatch UMLS:C1412212, + HGNC:222, + HGNC_symbol:ADAMTS6 ; biolink:category biolink:Gene . OMIM:605009 a owl:Class ; @@ -198566,12 +205229,13 @@ OMIM:605009 a owl:Class ; PMID:21378990, PMID:23415669, PMID:25712206 ; - oboInOwl:hasDbXref UMLS:C1412213 ; oboInOwl:hasExactSynonym "ADAMTS7", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11173 ; - skos:exactMatch HGNC_symbol:ADAMTS7 ; + skos:exactMatch UMLS:C1412213, + HGNC:223, + HGNC_symbol:ADAMTS7 ; biolink:category biolink:Gene . OMIM:605010 a owl:Class ; @@ -198595,13 +205259,14 @@ OMIM:605010 a owl:Class ; PMID:28832989 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:256500 ; - oboInOwl:hasDbXref UMLS:C1423506 ; oboInOwl:hasExactSynonym "SPINK5", "lymphoepithelial kazal-type-related inhibitor", "serine protease inhibitor, kazal-type, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11005 ; - skos:exactMatch HGNC_symbol:SPINK5 ; + skos:exactMatch UMLS:C1423506, + HGNC:15464, + HGNC_symbol:SPINK5 ; biolink:category biolink:Gene . OMIM:605011 a owl:Class ; @@ -198613,13 +205278,14 @@ OMIM:605011 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr4q13.3 ; RO:0003303 OMIM:618154 ; - oboInOwl:hasDbXref UMLS:C1412209, - UMLS:C4748408 ; oboInOwl:hasExactSynonym "ADAMTS3", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9508 ; - skos:exactMatch HGNC_symbol:ADAMTS3 ; + skos:exactMatch UMLS:C1412209, + UMLS:C4748408, + HGNC:219, + HGNC_symbol:ADAMTS3 ; biolink:category biolink:Gene . OMIM:605012 a owl:Class ; @@ -198634,7 +205300,6 @@ OMIM:605012 a owl:Class ; PMID:9836642 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:619480 ; - oboInOwl:hasDbXref UMLS:C1420522 ; oboInOwl:hasExactSynonym "SUPT16H", "chromatin-specific transcription elongation factor, 140-kd subunit", "fact, 140-kd subunit", @@ -198643,7 +205308,9 @@ OMIM:605012 a owl:Class ; "suppressor of ty 16, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11198 ; - skos:exactMatch HGNC_symbol:SUPT16H ; + skos:exactMatch UMLS:C1420522, + HGNC:11465, + HGNC_symbol:SUPT16H ; biolink:category biolink:Gene . OMIM:605013 a owl:Class ; @@ -198653,10 +205320,10 @@ OMIM:605013 a owl:Class ; PMID:22526350, PMID:2884728, PMID:7588968 ; - oboInOwl:hasDbXref UMLS:C1857977 ; oboInOwl:hasExactSynonym "MHAC", "hydranencephaly and microcephaly", "microhydranencephaly" ; + skos:exactMatch UMLS:C1857977 ; biolink:category biolink:Disease . OMIM:605014 a owl:Class ; @@ -198671,47 +205338,51 @@ OMIM:605014 a owl:Class ; PMID:9571206 ; RO:0002525 CHR:9606chr6q24.2 ; RO:0003303 OMIM:603552 ; - oboInOwl:hasDbXref UMLS:C1420494 ; oboInOwl:hasExactSynonym "STX11", "syntaxin 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8676 ; - skos:exactMatch HGNC_symbol:STX11 ; + skos:exactMatch UMLS:C1420494, + HGNC:11429, + HGNC_symbol:STX11 ; biolink:category biolink:Gene . OMIM:605015 a owl:Class ; rdfs:label "ZNF214" ; IAO:0000142 PMID:10762538, PMID:7959730 ; - oboInOwl:hasDbXref UMLS:C1421702 ; oboInOwl:hasExactSynonym "ZNF214", "zinc finger protein 214" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7761 ; - skos:exactMatch HGNC_symbol:ZNF214 ; + skos:exactMatch UMLS:C1421702, + HGNC:13006, + HGNC_symbol:ZNF214 ; biolink:category biolink:Gene . OMIM:605016 a owl:Class ; rdfs:label "ZNF215" ; IAO:0000142 PMID:10762538, PMID:7959730 ; - oboInOwl:hasDbXref UMLS:C1421703 ; oboInOwl:hasExactSynonym "ZNF215", "zinc finger protein 215" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7762 ; - skos:exactMatch HGNC_symbol:ZNF215 ; + skos:exactMatch UMLS:C1421703, + HGNC:13007, + HGNC_symbol:ZNF215 ; biolink:category biolink:Gene . OMIM:605017 a owl:Class ; rdfs:label "VPREB3" ; IAO:0000142 PMID:10702669 ; - oboInOwl:hasDbXref UMLS:C1421463 ; oboInOwl:hasExactSynonym "VPREB3", "pre-b-lymphocyte gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29802 ; - skos:exactMatch HGNC_symbol:VPREB3 ; + skos:exactMatch UMLS:C1421463, + HGNC:12710, + HGNC_symbol:VPREB3 ; biolink:category biolink:Gene . OMIM:605018 a owl:Class ; @@ -198740,11 +205411,6 @@ OMIM:605018 a owl:Class ; PMID:8649842 ; RO:0002525 CHR:9606chr16q12.1 ; RO:0003303 OMIM:601606 ; - oboInOwl:hasDbXref UMLS:C1275122, - UMLS:C1413850, - UMLS:C1851526, - UMLS:C1857941, - UMLS:C5436881 ; oboInOwl:hasExactSynonym "CYLD", "cyld gene", "cyld lysine-63 deubiquitinase", @@ -198752,7 +205418,13 @@ OMIM:605018 a owl:Class ; "kiaa0849" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1540 ; - skos:exactMatch HGNC_symbol:CYLD ; + skos:exactMatch UMLS:C1275122, + UMLS:C1413850, + UMLS:C1851526, + UMLS:C1857941, + UMLS:C5436881, + HGNC:2584, + HGNC_symbol:CYLD ; biolink:category biolink:Gene . OMIM:605020 a owl:Class ; @@ -198772,14 +205444,15 @@ OMIM:605020 a owl:Class ; PMID:7795607 ; RO:0002525 CHR:9606chr20p11.21 ; RO:0003303 OMIM:148300 ; - oboInOwl:hasDbXref UMLS:C1421473 ; oboInOwl:hasExactSynonym "VSX1", "retinal inner nuclear layer homeobox", "visual system homeobox 1", "visual system homeobox gene 1, zebrafish, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30813 ; - skos:exactMatch HGNC_symbol:VSX1 ; + skos:exactMatch UMLS:C1421473, + HGNC:12723, + HGNC_symbol:VSX1 ; biolink:category biolink:Gene . OMIM:605022 a owl:Class ; @@ -198793,14 +205466,15 @@ OMIM:605022 a owl:Class ; PMID:29297928, PMID:7618083, PMID:7744004 ; - oboInOwl:hasDbXref UMLS:C1418260 ; oboInOwl:hasExactSynonym "PAK2", "p21 cdc42/rac1-activated kinase 1", "p21 protein-activated kinase 2", "p21-activated kinase, 65-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5062 ; - skos:exactMatch HGNC_symbol:PAK2 ; + skos:exactMatch UMLS:C1418260, + HGNC:8591, + HGNC_symbol:PAK2 ; biolink:category biolink:Gene . OMIM:605023 a owl:Class ; @@ -198809,8 +205483,6 @@ OMIM:605023 a owl:Class ; PMID:10978532, PMID:24996905, PMID:9891009 ; - oboInOwl:hasDbXref UMLS:C1415468, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "HAO1", "glycolate oxidase 1", "gox", @@ -198818,7 +205490,10 @@ OMIM:605023 a owl:Class ; "hydroxyacid oxidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54363 ; - skos:exactMatch HGNC_symbol:HAO1 ; + skos:exactMatch UMLS:C1415468, + UMLS:C2986382, + HGNC:4809, + HGNC_symbol:HAO1 ; biolink:category biolink:Gene . OMIM:605024 a owl:Class ; @@ -198827,14 +205502,15 @@ OMIM:605024 a owl:Class ; PMID:10362779, PMID:10652014, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1420198 ; oboInOwl:hasExactSynonym "SLC4A8", "kiaa0739", "knbc3", "solute carrier family 4 (sodium bicarbonate cotransporter), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9498 ; - skos:exactMatch HGNC_symbol:SLC4A8 ; + skos:exactMatch UMLS:C1420198, + HGNC:11034, + HGNC_symbol:SLC4A8 ; biolink:category biolink:Gene . OMIM:605025 a owl:Class ; @@ -198850,7 +205526,6 @@ OMIM:605025 a owl:Class ; PMID:9704023 ; RO:0002525 CHR:9606chr17q21.33 ; RO:0003303 OMIM:614748 ; - oboInOwl:hasDbXref UMLS:C1416486 ; oboInOwl:hasExactSynonym "ITGA3", "cd49c", "galactoprotein b3", @@ -198858,28 +205533,29 @@ OMIM:605025 a owl:Class ; "very late activation protein 3 receptor, alpha-3 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3675 ; - skos:exactMatch HGNC_symbol:ITGA3 ; + skos:exactMatch UMLS:C1416486, + HGNC:6139, + HGNC_symbol:ITGA3 ; biolink:category biolink:Gene . OMIM:605026 a owl:Class ; rdfs:label "diabetes mellitus, congenital autoimmune" ; IAO:0000142 PMID:10819656 ; - oboInOwl:hasDbXref UMLS:C1857958 ; - oboInOwl:hasExactSynonym "diabetes mellitus, congenital autoimmune" . + oboInOwl:hasExactSynonym "diabetes mellitus, congenital autoimmune" ; + skos:exactMatch UMLS:C1857958 . OMIM:605028 a owl:Class ; rdfs:label "low density lipoprotein cholesterol, mild elevation of" ; IAO:0000142 PMID:10735582 ; - oboInOwl:hasDbXref UMLS:C1857956 ; oboInOwl:hasExactSynonym "ldlc, mild elevation of", - "low density lipoprotein cholesterol, mild elevation of" . + "low density lipoprotein cholesterol, mild elevation of" ; + skos:exactMatch UMLS:C1857956 . OMIM:605029 a owl:Class ; rdfs:label "KLRF1" ; IAO:0000142 PMID:10671213, PMID:17057721, PMID:18922855 ; - oboInOwl:hasDbXref UMLS:C1421942 ; oboInOwl:hasExactSynonym "KLRF1", "c-type lectin domain family 5, member c", "killer cell lectin-like receptor f1", @@ -198887,7 +205563,9 @@ OMIM:605029 a owl:Class ; "nkp80" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51348 ; - skos:exactMatch HGNC_symbol:KLRF1 ; + skos:exactMatch UMLS:C1421942, + HGNC:13342, + HGNC_symbol:KLRF1 ; biolink:category biolink:Gene . OMIM:605030 a owl:Class ; @@ -198900,14 +205578,15 @@ OMIM:605030 a owl:Class ; PMID:29849151, PMID:8566796, PMID:8816758 ; - oboInOwl:hasDbXref UMLS:C1420479 ; oboInOwl:hasExactSynonym "STK3", "kinase responsive to stress 1", "mammalian sterile 20-like 2", "serine/threonine protein kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6788 ; - skos:exactMatch HGNC_symbol:STK3 ; + skos:exactMatch UMLS:C1420479, + HGNC:11406, + HGNC_symbol:STK3 ; biolink:category biolink:Gene . OMIM:605031 a owl:Class ; @@ -198929,14 +205608,15 @@ OMIM:605031 a owl:Class ; PMID:27246242 ; RO:0002525 CHR:9606chr4q28.1 ; RO:0003303 OMIM:616171 ; - oboInOwl:hasDbXref UMLS:C1420470 ; oboInOwl:hasExactSynonym "PLK4", "polo-like kinase 4", "sak, mouse, homolog of", "serine/threonine protein kinase 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10733 ; - skos:exactMatch HGNC_symbol:PLK4 ; + skos:exactMatch UMLS:C1420470, + HGNC:11397, + HGNC_symbol:PLK4 ; biolink:category biolink:Gene . OMIM:605032 a owl:Class ; @@ -198954,15 +205634,16 @@ OMIM:605032 a owl:Class ; PMID:7553862 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:617976 ; - oboInOwl:hasDbXref UMLS:C1413670, - UMLS:C4693810 ; oboInOwl:hasExactSynonym "CPLX1", "complexin 1", "cpx1", "synaphin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10815 ; - skos:exactMatch HGNC_symbol:CPLX1 ; + skos:exactMatch UMLS:C1413670, + UMLS:C4693810, + HGNC:2309, + HGNC_symbol:CPLX1 ; biolink:category biolink:Gene . OMIM:605033 a owl:Class ; @@ -198972,14 +205653,15 @@ OMIM:605033 a owl:Class ; PMID:12915444, PMID:20584925, PMID:7553862 ; - oboInOwl:hasDbXref UMLS:C1413671 ; oboInOwl:hasExactSynonym "CPLX2", "complexin 2", "cpx2", "synaphin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10814 ; - skos:exactMatch HGNC_symbol:CPLX2 ; + skos:exactMatch UMLS:C1413671, + HGNC:2310, + HGNC_symbol:CPLX2 ; biolink:category biolink:Gene . OMIM:605034 a owl:Class ; @@ -198988,13 +205670,14 @@ OMIM:605034 a owl:Class ; PMID:10830167, PMID:16763150, PMID:31618756 ; - oboInOwl:hasDbXref UMLS:C1424893 ; oboInOwl:hasExactSynonym "TIMM23", "tim23, yeast, homolog of", "translocase of inner mitochondrial membrane 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100287932 ; - skos:exactMatch HGNC_symbol:TIMM23 ; + skos:exactMatch UMLS:C1424893, + HGNC:17312, + HGNC_symbol:TIMM23 ; biolink:category biolink:Gene . OMIM:605035 a owl:Class ; @@ -199016,7 +205699,6 @@ OMIM:605035 a owl:Class ; PMID:9889097 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:618707 ; - oboInOwl:hasDbXref UMLS:C1421479 ; oboInOwl:hasExactSynonym "WASF1", "scar, dictyostelium, homolog of, 1", "wasp family, member 1", @@ -199025,19 +205707,22 @@ OMIM:605035 a owl:Class ; "wasp protein family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8936 ; - skos:exactMatch HGNC_symbol:WASF1 ; + skos:exactMatch UMLS:C1421479, + HGNC:12732, + HGNC_symbol:WASF1 ; biolink:category biolink:Gene . OMIM:605036 a owl:Class ; rdfs:label "ZNF219" ; IAO:0000142 PMID:10819330, PMID:14621294 ; - oboInOwl:hasDbXref UMLS:C1421707 ; oboInOwl:hasExactSynonym "ZNF219", "zinc finger protein 219" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51222 ; - skos:exactMatch HGNC_symbol:ZNF219 ; + skos:exactMatch UMLS:C1421707, + HGNC:13011, + HGNC_symbol:ZNF219 ; biolink:category biolink:Gene . OMIM:605037 a owl:Class ; @@ -199046,13 +205731,14 @@ OMIM:605037 a owl:Class ; PMID:12493914, PMID:15479732, PMID:21521616 ; - oboInOwl:hasDbXref UMLS:C1426058 ; oboInOwl:hasExactSynonym "KIF17", "kiaa1405", "kinesin family member 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57576 ; - skos:exactMatch HGNC_symbol:KIF17 ; + skos:exactMatch UMLS:C1426058, + HGNC:19167, + HGNC_symbol:KIF17 ; biolink:category biolink:Gene . OMIM:605038 a owl:Class ; @@ -199060,13 +205746,14 @@ OMIM:605038 a owl:Class ; IAO:0000142 PMID:15077197, PMID:8586419, PMID:9344666 ; - oboInOwl:hasDbXref UMLS:C1335229 ; oboInOwl:hasExactSynonym "PMS2L1", "pms3", "postmeiotic segregation increased 2-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5379 ; - skos:exactMatch HGNC_symbol:PMS2P1 ; + skos:exactMatch UMLS:C1335229, + HGNC:9123, + HGNC_symbol:PMS2P1 ; biolink:category biolink:Gene . OMIM:605039 a owl:Class ; @@ -199083,22 +205770,22 @@ OMIM:605039 a owl:Class ; PMID:21706002, PMID:22419483, PMID:7546453 ; - oboInOwl:hasDbXref UMLS:C0796232, - ORPHA:97297 ; oboInOwl:hasExactSynonym "BOPS", "bohring syndrome", "bohring-opitz syndrome", "bos", "c-like syndrome", "opitz trigonocephaly-like syndrome" ; + skos:exactMatch UMLS:C0796232, + ORPHA:97297 ; biolink:category biolink:Disease . OMIM:605040 a owl:Class ; rdfs:label "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia" ; IAO:0000142 PMID:10817655 ; - oboInOwl:hasDbXref UMLS:C1857942 ; oboInOwl:hasExactSynonym "chzam", - "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia" . + "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia" ; + skos:exactMatch UMLS:C1857942 . OMIM:605042 a owl:Class ; rdfs:label "MED23" ; @@ -199107,7 +205794,6 @@ OMIM:605042 a owl:Class ; PMID:9989412 ; RO:0002525 CHR:9606chr6q23.2 ; RO:0003303 OMIM:614249 ; - oboInOwl:hasDbXref UMLS:C1332782 ; oboInOwl:hasExactSynonym "MED23", "cofactor required for sp1 transcriptional activation, subunit 3", "crsp, 130-kd subunit", @@ -199116,21 +205802,24 @@ OMIM:605042 a owl:Class ; "sur2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9439 ; - skos:exactMatch HGNC_symbol:MED23 ; + skos:exactMatch UMLS:C1332782, + HGNC:2372, + HGNC_symbol:MED23 ; biolink:category biolink:Gene . OMIM:605043 a owl:Class ; rdfs:label "MED26" ; IAO:0000142 PMID:21729782, PMID:9989412 ; - oboInOwl:hasDbXref UMLS:C1332785 ; oboInOwl:hasExactSynonym "MED26", "cofactor required for sp1 transcriptional activation, subunit 7", "crsp, 70-kd subunit", "mediator complex subunit 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9441 ; - skos:exactMatch HGNC_symbol:MED26 ; + skos:exactMatch UMLS:C1332785, + HGNC:2376, + HGNC_symbol:MED26 ; biolink:category biolink:Gene . OMIM:605044 a owl:Class ; @@ -199138,7 +205827,6 @@ OMIM:605044 a owl:Class ; IAO:0000142 PMID:9989412 ; RO:0002525 CHR:9606chr9q34.13 ; RO:0003303 OMIM:619286 ; - oboInOwl:hasDbXref UMLS:C1332786 ; oboInOwl:hasExactSynonym "MED27", "cofactor required for sp1 transcriptional activation, subunit 8", "crsp, 34-kd subunit", @@ -199146,7 +205834,9 @@ OMIM:605044 a owl:Class ; "trap/smcc/pc2 subunit p37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9442 ; - skos:exactMatch HGNC_symbol:MED27 ; + skos:exactMatch UMLS:C1332786, + HGNC:2377, + HGNC_symbol:MED27 ; biolink:category biolink:Gene . OMIM:605045 a owl:Class ; @@ -199154,14 +205844,15 @@ OMIM:605045 a owl:Class ; IAO:0000142 PMID:15175163, PMID:9420330, PMID:9989412 ; - oboInOwl:hasDbXref UMLS:C1332787 ; oboInOwl:hasExactSynonym "MED7", "cofactor required for sp1 transcriptional activation, subunit 9", "crsp, 33-kd subunit", "mediator complex subunit 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9443 ; - skos:exactMatch HGNC_symbol:MED7 ; + skos:exactMatch UMLS:C1332787, + HGNC:2378, + HGNC_symbol:MED7 ; biolink:category biolink:Gene . OMIM:605046 a owl:Class ; @@ -199179,7 +205870,6 @@ OMIM:605046 a owl:Class ; PMID:22766032, PMID:26539891, PMID:9303440 ; - oboInOwl:hasDbXref UMLS:C1421304 ; oboInOwl:hasExactSynonym "UBQLN1", "da41, rat, homolog of", "plic1, mouse, homolog of", @@ -199187,7 +205877,9 @@ OMIM:605046 a owl:Class ; "ubqn, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29979 ; - skos:exactMatch HGNC_symbol:UBQLN1 ; + skos:exactMatch UMLS:C1421304, + HGNC:12508, + HGNC_symbol:UBQLN1 ; biolink:category biolink:Gene . OMIM:605047 a owl:Class ; @@ -199206,7 +205898,6 @@ OMIM:605047 a owl:Class ; PMID:9786932 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:616345 ; - oboInOwl:hasDbXref UMLS:C1416475 ; oboInOwl:hasExactSynonym "IRF7", "interferon regulatory factor 7", "irf7a", @@ -199215,7 +205906,9 @@ OMIM:605047 a owl:Class ; "irf7h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3665 ; - skos:exactMatch HGNC_symbol:IRF7 ; + skos:exactMatch UMLS:C1416475, + HGNC:6122, + HGNC_symbol:IRF7 ; biolink:category biolink:Gene . OMIM:605048 a owl:Class ; @@ -199228,7 +205921,6 @@ OMIM:605048 a owl:Class ; PMID:19481526, PMID:19737522, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1422750 ; oboInOwl:hasExactSynonym "IKBKE", "i-kappa-b kinase-epsilon", "ikk-epsilon", @@ -199238,7 +205930,9 @@ OMIM:605048 a owl:Class ; "kiaa0151" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9641 ; - skos:exactMatch HGNC_symbol:IKBKE ; + skos:exactMatch UMLS:C1422750, + HGNC:14552, + HGNC_symbol:IKBKE ; biolink:category biolink:Gene . OMIM:605049 a owl:Class ; @@ -199247,13 +205941,14 @@ OMIM:605049 a owl:Class ; PMID:11260715, PMID:11260716, PMID:11260717 ; - oboInOwl:hasDbXref UMLS:C1421245 ; oboInOwl:hasExactSynonym "TWSG1", "tsg", "twisted gastrulation homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57045 ; - skos:exactMatch HGNC_symbol:TWSG1 ; + skos:exactMatch UMLS:C1421245, + HGNC:12429, + HGNC_symbol:TWSG1 ; biolink:category biolink:Gene . OMIM:605050 a owl:Class ; @@ -199269,14 +205964,15 @@ OMIM:605051 a owl:Class ; PMID:17159985, PMID:17556587, PMID:7689702 ; - oboInOwl:hasDbXref UMLS:C1413555 ; oboInOwl:hasExactSynonym "CNR2", "cannabinoid receptor 2", "cb2 receptor", "cx5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1269 ; - skos:exactMatch HGNC_symbol:CNR2 ; + skos:exactMatch UMLS:C1413555, + HGNC:2160, + HGNC_symbol:CNR2 ; biolink:category biolink:Gene . OMIM:605052 a owl:Class ; @@ -199284,13 +205980,14 @@ OMIM:605052 a owl:Class ; IAO:0000142 PMID:1936997, PMID:8626763, PMID:8846792 ; - oboInOwl:hasDbXref UMLS:C1420585 ; oboInOwl:hasExactSynonym "TARBP1", "tar rna-binding protein 1", "trp185" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6894 ; - skos:exactMatch HGNC_symbol:TARBP1 ; + skos:exactMatch UMLS:C1420585, + HGNC:11568, + HGNC_symbol:TARBP1 ; biolink:category biolink:Gene . OMIM:605053 a owl:Class ; @@ -199303,33 +206000,35 @@ OMIM:605053 a owl:Class ; PMID:25043050, PMID:7774957, PMID:8723388 ; - oboInOwl:hasDbXref UMLS:C1420586 ; oboInOwl:hasExactSynonym "TARBP2", "loquacious, drosophila, homolog of", "tar rna-binding protein 2", "trbp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6895 ; - skos:exactMatch HGNC_symbol:TARBP2 ; + skos:exactMatch UMLS:C1420586, + HGNC:11569, + HGNC_symbol:TARBP2 ; biolink:category biolink:Gene . OMIM:605054 a owl:Class ; rdfs:label "SERF2" ; IAO:0000142 PMID:9731538 ; - oboInOwl:hasDbXref UMLS:C1419973 ; oboInOwl:hasExactSynonym "SERF2", "h4f5rel", "small edrk-rich factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10169 ; - skos:exactMatch HGNC_symbol:SERF2 ; + skos:exactMatch UMLS:C1419973, + HGNC:10757, + HGNC_symbol:SERF2 ; biolink:category biolink:Gene . OMIM:605055 a owl:Class ; rdfs:label "alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology" ; IAO:0000142 PMID:10755493 ; - oboInOwl:hasDbXref UMLS:C1857933 ; oboInOwl:hasExactSynonym "alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology" ; + skos:exactMatch UMLS:C1857933 ; biolink:category biolink:Disease . OMIM:605056 a owl:Class ; @@ -199349,14 +206048,15 @@ OMIM:605056 a owl:Class ; PMID:23549080, PMID:9322739, PMID:9422512 ; - oboInOwl:hasDbXref UMLS:C1421482 ; oboInOwl:hasExactSynonym "WASL", "n-wasp", "was gene-like", "wasp-like actin nucleation-promoting factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8976 ; - skos:exactMatch HGNC_symbol:WASL ; + skos:exactMatch UMLS:C1421482, + HGNC:12735, + HGNC_symbol:WASL ; biolink:category biolink:Gene . OMIM:605057 a owl:Class ; @@ -199364,14 +206064,15 @@ OMIM:605057 a owl:Class ; IAO:0000142 PMID:10339406, PMID:18826960, PMID:8893850 ; - oboInOwl:hasDbXref UMLS:C1424895 ; oboInOwl:hasExactSynonym "TIMM17A", "tim17", "tim17, yeast, homolog of, a", "translocase of inner mitochondrial membrane 17a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10440 ; - skos:exactMatch HGNC_symbol:TIMM17A ; + skos:exactMatch UMLS:C1424895, + HGNC:17315, + HGNC_symbol:TIMM17A ; biolink:category biolink:Gene . OMIM:605058 a owl:Class ; @@ -199379,13 +206080,14 @@ OMIM:605058 a owl:Class ; IAO:0000142 PMID:10339406, PMID:12677068, PMID:31618756 ; - oboInOwl:hasDbXref UMLS:C1424896 ; oboInOwl:hasExactSynonym "TIMM44", "tim44, yeast, homolog of", "translocase of inner mitochondrial membrane 44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10469 ; - skos:exactMatch HGNC_symbol:TIMM44 ; + skos:exactMatch UMLS:C1424896, + HGNC:17316, + HGNC_symbol:TIMM44 ; biolink:category biolink:Gene . OMIM:605059 a owl:Class ; @@ -199402,14 +206104,15 @@ OMIM:605060 a owl:Class ; PMID:25647543 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:617213 ; - oboInOwl:hasDbXref UMLS:C1413125 ; oboInOwl:hasExactSynonym "SHPK", "carbohydrate kinase-like", "sedoheptulokinase", "shk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23729 ; - skos:exactMatch HGNC_symbol:SHPK ; + skos:exactMatch UMLS:C1413125, + HGNC:1492, + HGNC_symbol:SHPK ; biolink:category biolink:Gene . OMIM:605061 a owl:Class ; @@ -199418,26 +206121,28 @@ OMIM:605061 a owl:Class ; PMID:11455386, PMID:20339076, PMID:20559389 ; - oboInOwl:hasDbXref UMLS:C1426113 ; oboInOwl:hasExactSynonym "TERF2IP", "rap1, yeast, homolog of", "terf2-interacting protein", "trf2-interacting telomeric protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54386 ; - skos:exactMatch HGNC_symbol:TERF2IP ; + skos:exactMatch UMLS:C1426113, + HGNC:19246, + HGNC_symbol:TERF2IP ; biolink:category biolink:Gene . OMIM:605062 a owl:Class ; rdfs:label "TAS2R5" ; IAO:0000142 PMID:10761934 ; - oboInOwl:hasDbXref UMLS:C1423048 ; oboInOwl:hasExactSynonym "TAS2R5", "t2r5", "taste receptor, iia 2, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54429 ; - skos:exactMatch HGNC_symbol:TAS2R5 ; + skos:exactMatch UMLS:C1423048, + HGNC:14912, + HGNC_symbol:TAS2R5 ; biolink:category biolink:Gene . OMIM:605063 a owl:Class ; @@ -199448,14 +206153,15 @@ OMIM:605063 a owl:Class ; PMID:17651690, PMID:21186352, PMID:9857057 ; - oboInOwl:hasDbXref UMLS:C1420462 ; oboInOwl:hasExactSynonym "STIP1", "hsp70/hsp90-organizing protein", "sti1, yeast, homolog of", "stress-induced phosphoprotein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10963 ; - skos:exactMatch HGNC_symbol:STIP1 ; + skos:exactMatch UMLS:C1420462, + HGNC:11387, + HGNC_symbol:STIP1 ; biolink:category biolink:Gene . OMIM:605064 a owl:Class ; @@ -199469,7 +206175,6 @@ OMIM:605064 a owl:Class ; PMID:2448315 ; RO:0002525 CHR:9606chr15q23 ; RO:0003303 OMIM:105600 ; - oboInOwl:hasDbXref UMLS:C1416697 ; oboInOwl:hasExactSynonym "KIF23", "kinesin family member 23", "kinesin-like 5", @@ -199477,7 +206182,9 @@ OMIM:605064 a owl:Class ; "zen4, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9493 ; - skos:exactMatch HGNC_symbol:KIF23 ; + skos:exactMatch UMLS:C1416697, + HGNC:6392, + HGNC_symbol:KIF23 ; biolink:category biolink:Gene . OMIM:605065 a owl:Class ; @@ -199487,13 +206194,14 @@ OMIM:605065 a owl:Class ; PMID:7002718, PMID:8666233, PMID:8703009 ; - oboInOwl:hasDbXref UMLS:C1332722 ; oboInOwl:hasExactSynonym "CDC37", "cell division cycle 37", "cell division cycle 37, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11140 ; - skos:exactMatch HGNC_symbol:CDC37 ; + skos:exactMatch UMLS:C1332722, + HGNC:1735, + HGNC_symbol:CDC37 ; biolink:category biolink:Gene . OMIM:605066 a owl:Class ; @@ -199513,14 +206221,15 @@ OMIM:605066 a owl:Class ; PMID:9144171, PMID:9312143, PMID:9371399 ; - oboInOwl:hasDbXref UMLS:C1421560 ; oboInOwl:hasExactSynonym "14-3-3 protein, epsilon isoform", "14-3-3-epsilon", "YWHAE", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7531 ; - skos:exactMatch HGNC_symbol:YWHAE ; + skos:exactMatch UMLS:C1421560, + HGNC:12851, + HGNC_symbol:YWHAE ; biolink:category biolink:Gene . OMIM:605067 a owl:Class ; @@ -199531,14 +206240,13 @@ OMIM:605067 a owl:Class ; PMID:1689815, PMID:7991439, PMID:9863614 ; - oboInOwl:hasDbXref UMLS:C0243002 ; - oboInOwl:hasExactSynonym "tricuspid atresia" . + oboInOwl:hasExactSynonym "tricuspid atresia" ; + skos:exactMatch UMLS:C0243002 . OMIM:605068 a owl:Class ; rdfs:label "WASF3" ; IAO:0000142 PMID:10048485, PMID:10381382 ; - oboInOwl:hasDbXref UMLS:C1421481 ; oboInOwl:hasExactSynonym "WASF3", "scar, dictyostelium, homolog of, 3", "wasp family, member 3", @@ -199546,7 +206254,9 @@ OMIM:605068 a owl:Class ; "wasp protein family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10810 ; - skos:exactMatch HGNC_symbol:WASF3 ; + skos:exactMatch UMLS:C1421481, + HGNC:12734, + HGNC_symbol:WASF3 ; biolink:category biolink:Gene . OMIM:605069 a owl:Class ; @@ -199554,7 +206264,6 @@ OMIM:605069 a owl:Class ; IAO:0000142 PMID:11013076, PMID:8415712, PMID:9155017 ; - oboInOwl:hasDbXref UMLS:C1417176 ; oboInOwl:hasExactSynonym "MKNK2", "g protein-coupled receptor kinase 7, formerly", "mapk-interacting kinase 2", @@ -199563,7 +206272,9 @@ OMIM:605069 a owl:Class ; "mknk2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2872 ; - skos:exactMatch HGNC_symbol:MKNK2 ; + skos:exactMatch UMLS:C1417176, + HGNC:7111, + HGNC_symbol:MKNK2 ; biolink:category biolink:Gene . OMIM:605070 a owl:Class ; @@ -199573,26 +206284,28 @@ OMIM:605070 a owl:Class ; PMID:27556945, PMID:7768953, PMID:9697774 ; - oboInOwl:hasDbXref UMLS:C1414266 ; oboInOwl:hasExactSynonym "EEA1", "early endosome antigen 1", "early endosome antigen, 162-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8411 ; - skos:exactMatch HGNC_symbol:EEA1 ; + skos:exactMatch UMLS:C1414266, + HGNC:3185, + HGNC_symbol:EEA1 ; biolink:category biolink:Gene . OMIM:605071 a owl:Class ; rdfs:label "RGS19" ; IAO:0000142 PMID:11829488, PMID:8524874 ; - oboInOwl:hasDbXref UMLS:C1422173 ; oboInOwl:hasExactSynonym "RGS19", "g protein, alpha-interacting protein", "regulator of g protein signaling 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10287 ; - skos:exactMatch HGNC_symbol:RGS19 ; + skos:exactMatch UMLS:C1422173, + HGNC:13735, + HGNC_symbol:RGS19 ; biolink:category biolink:Gene . OMIM:605072 a owl:Class ; @@ -199607,8 +206320,6 @@ OMIM:605072 a owl:Class ; PMID:9770488 ; RO:0002525 CHR:9606chr19p13.12 ; RO:0003303 OMIM:618940 ; - oboInOwl:hasDbXref UMLS:C1825351, - UMLS:C5394548 ; oboInOwl:hasExactSynonym "GIPC1", "chromosome 19 open reading frame 3", "gaip c-terminus-interacting protein 1", @@ -199619,7 +206330,10 @@ OMIM:605072 a owl:Class ; "synectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10755 ; - skos:exactMatch HGNC_symbol:GIPC1 ; + skos:exactMatch UMLS:C1825351, + UMLS:C5394548, + HGNC:1226, + HGNC_symbol:GIPC1 ; biolink:category biolink:Gene . OMIM:605073 a owl:Class ; @@ -199633,14 +206347,15 @@ OMIM:605073 a owl:Class ; PMID:25470042 ; RO:0002525 CHR:9606chr17q22 ; RO:0003303 OMIM:253250 ; - oboInOwl:hasDbXref UMLS:C1417503 ; oboInOwl:hasExactSynonym "TRIM37", "kiaa0898", "mul gene", "tripartite motif-containing protein 37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4591 ; - skos:exactMatch HGNC_symbol:TRIM37 ; + skos:exactMatch UMLS:C1417503, + HGNC:7523, + HGNC_symbol:TRIM37 ; biolink:category biolink:Gene . OMIM:605075 a owl:Class ; @@ -199652,7 +206367,6 @@ OMIM:605076 a owl:Class ; IAO:0000142 PMID:7715707, PMID:8524284, PMID:8633057 ; - oboInOwl:hasDbXref UMLS:C1420273 ; oboInOwl:hasExactSynonym "SNAPC2", "pse-binding transcription factor, delta", "ptf-delta", @@ -199660,7 +206374,9 @@ OMIM:605076 a owl:Class ; "small nuclear rna-activating protein complex, polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6618 ; - skos:exactMatch HGNC_symbol:SNAPC2 ; + skos:exactMatch UMLS:C1420273, + HGNC:11135, + HGNC_symbol:SNAPC2 ; biolink:category biolink:Gene . OMIM:605077 a owl:Class ; @@ -199669,13 +206385,14 @@ OMIM:605077 a owl:Class ; PMID:14966270, PMID:14978102, PMID:18614019 ; - oboInOwl:hasDbXref UMLS:C1425426 ; oboInOwl:hasExactSynonym "DNA methyltransferase 1-associated protein 1", "DNMAP1", "dnmt1-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55929 ; - skos:exactMatch HGNC_symbol:DMAP1 ; + skos:exactMatch UMLS:C1425426, + HGNC:18291, + HGNC_symbol:DMAP1 ; biolink:category biolink:Gene . OMIM:605078 a owl:Class ; @@ -199725,24 +206442,26 @@ OMIM:605078 a owl:Class ; PMID:7745706 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:612069 ; - oboInOwl:hasDbXref UMLS:C1420588 ; oboInOwl:hasExactSynonym "TARDBP", "tar dna-binding protein", "tar dna-binding protein, 43-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23435 ; - skos:exactMatch HGNC_symbol:TARDBP ; + skos:exactMatch UMLS:C1420588, + HGNC:11571, + HGNC_symbol:TARDBP ; biolink:category biolink:Gene . OMIM:605079 a owl:Class ; rdfs:label "SALL3" ; IAO:0000142 PMID:10610715 ; - oboInOwl:hasDbXref UMLS:C1419811 ; oboInOwl:hasExactSynonym "SALL3", "sal-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27164 ; - skos:exactMatch HGNC_symbol:SALL3 ; + skos:exactMatch UMLS:C1419811, + HGNC:10527, + HGNC_symbol:SALL3 ; biolink:category biolink:Gene . OMIM:605080 a owl:Class ; @@ -199759,14 +206478,15 @@ OMIM:605080 a owl:Class ; PMID:19767295 ; RO:0002525 CHR:9606chr8q21.3 ; RO:0003303 OMIM:262300 ; - oboInOwl:hasDbXref UMLS:C1413548, - UMLS:C1849792, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "CNGB3", "cyclic nucleotide-gated channel, beta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54714 ; - skos:exactMatch HGNC_symbol:CNGB3 ; + skos:exactMatch UMLS:C1413548, + UMLS:C1849792, + UMLS:C4015968, + HGNC:2153, + HGNC_symbol:CNGB3 ; biolink:category biolink:Gene . OMIM:605081 a owl:Class ; @@ -199778,7 +206498,6 @@ OMIM:605081 a owl:Class ; PMID:9072969, PMID:9707577, PMID:9742223 ; - oboInOwl:hasDbXref UMLS:C1418981 ; oboInOwl:hasExactSynonym "CYTH3", "arf nucleotide-binding site opener 3", "cytohesin 3", @@ -199786,7 +206505,9 @@ OMIM:605081 a owl:Class ; "pleckstrin homology, sec7, and coiled-coil domains protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9265 ; - skos:exactMatch HGNC_symbol:CYTH3 ; + skos:exactMatch UMLS:C1418981, + HGNC:9504, + HGNC_symbol:CYTH3 ; biolink:category biolink:Gene . OMIM:605082 a owl:Class ; @@ -199806,13 +206527,14 @@ OMIM:605082 a owl:Class ; PMID:19854132, PMID:9111863, PMID:9671394 ; - oboInOwl:hasDbXref UMLS:C1419285 ; oboInOwl:hasExactSynonym "RASSF1", "ras association domain family protein 1", "rassf1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11186 ; - skos:exactMatch HGNC_symbol:RASSF1 ; + skos:exactMatch UMLS:C1419285, + HGNC:9882, + HGNC_symbol:RASSF1 ; biolink:category biolink:Gene . OMIM:605083 a owl:Class ; @@ -199828,14 +206550,15 @@ OMIM:605083 a owl:Class ; PMID:9118218 ; RO:0002525 CHR:9606chr2q32.1 ; RO:0003303 OMIM:165720 ; - oboInOwl:hasDbXref UMLS:C1414819 ; oboInOwl:hasExactSynonym "FRZB", "frizzled-related protein", "frizzled-related protein 1", "secreted frizzled-related protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2487 ; - skos:exactMatch HGNC_symbol:FRZB ; + skos:exactMatch UMLS:C1414819, + HGNC:3959, + HGNC_symbol:FRZB ; biolink:category biolink:Gene . OMIM:605084 a owl:Class ; @@ -199850,14 +206573,15 @@ OMIM:605084 a owl:Class ; PMID:9806765 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:615673 ; - oboInOwl:hasDbXref UMLS:C1413147, - UMLS:C3810285 ; oboInOwl:hasExactSynonym "MICU1", "calcium-binding atopy-related autoantigen 1", "mitochondrial calcium uptake protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10367 ; - skos:exactMatch HGNC_symbol:MICU1 ; + skos:exactMatch UMLS:C1413147, + UMLS:C3810285, + HGNC:1530, + HGNC_symbol:MICU1 ; biolink:category biolink:Gene . OMIM:605085 a owl:Class ; @@ -199867,12 +206591,13 @@ OMIM:605085 a owl:Class ; PMID:12645956, PMID:25595774, PMID:30137027 ; - oboInOwl:hasDbXref UMLS:C1425066 ; oboInOwl:hasExactSynonym "TREM1", "triggering receptor expressed on myeloid cells 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54210 ; - skos:exactMatch HGNC_symbol:TREM1 ; + skos:exactMatch UMLS:C1425066, + HGNC:17760, + HGNC_symbol:TREM1 ; biolink:category biolink:Gene . OMIM:605086 a owl:Class ; @@ -199903,13 +206628,14 @@ OMIM:605086 a owl:Class ; PMID:6681564 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:618193 ; - oboInOwl:hasDbXref UMLS:C1425067, - UMLS:C4748657 ; oboInOwl:hasExactSynonym "TREM2", "triggering receptor expressed on myeloid cells 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54209 ; - skos:exactMatch HGNC_symbol:TREM2 ; + skos:exactMatch UMLS:C1425067, + UMLS:C4748657, + HGNC:17761, + HGNC_symbol:TREM2 ; biolink:category biolink:Gene . OMIM:605087 a owl:Class ; @@ -199921,16 +206647,17 @@ OMIM:605087 a owl:Class ; PMID:9356492 ; RO:0002525 CHR:9606chr1p31.1 ; RO:0003303 OMIM:618879 ; - oboInOwl:hasDbXref UMLS:C1418566, - UMLS:C5394372, - UMLS:C5394575, - UMLS:C5394576 ; oboInOwl:hasExactSynonym "PIGK", "gpi8, yeast, homolog of", "phosphatidylinositol glycan anchor biosynthesis class k protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10026 ; - skos:exactMatch HGNC_symbol:PIGK ; + skos:exactMatch UMLS:C1418566, + UMLS:C5394372, + UMLS:C5394575, + UMLS:C5394576, + HGNC:8965, + HGNC_symbol:PIGK ; biolink:category biolink:Gene . OMIM:605088 a owl:Class ; @@ -199947,59 +206674,62 @@ OMIM:605088 a owl:Class ; PMID:8774142, PMID:9535882, PMID:9628887 ; - oboInOwl:hasDbXref UMLS:C1417509 ; oboInOwl:hasExactSynonym "MVP", "lung resistance-related protein", "major vault protein", "major vault protein, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9961 ; - skos:exactMatch HGNC_symbol:MVP ; + skos:exactMatch UMLS:C1417509, + HGNC:7531, + HGNC_symbol:MVP ; biolink:category biolink:Gene . OMIM:605089 a owl:Class ; rdfs:label "MRPL40" ; IAO:0000142 PMID:9790763, PMID:9857009 ; - oboInOwl:hasDbXref UMLS:C1422697 ; oboInOwl:hasExactSynonym "MRPL40", "mitochondrial ribosomal protein l40", "mrpl22", "nuclear localization signal deleted 1n velocardiofacial syndrome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64976 ; - skos:exactMatch HGNC_symbol:MRPL40 ; + skos:exactMatch UMLS:C1422697, + HGNC:14491, + HGNC_symbol:MRPL40 ; biolink:category biolink:Gene . OMIM:605090 a owl:Class ; rdfs:label "RARRES1" ; IAO:0000142 PMID:8601727 ; - oboInOwl:hasDbXref UMLS:C1419273 ; oboInOwl:hasExactSynonym "RARRES1", "retinoic acid receptor responder 1", "tazarotene-induced gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5918 ; - skos:exactMatch HGNC_symbol:RARRES1 ; + skos:exactMatch UMLS:C1419273, + HGNC:9867, + HGNC_symbol:RARRES1 ; biolink:category biolink:Gene . OMIM:605091 a owl:Class ; rdfs:label "FGD2" ; IAO:0000142 PMID:10458911 ; - oboInOwl:hasDbXref UMLS:C1414595 ; oboInOwl:hasExactSynonym "FGD2", "fgd1 family, member 2", "fyve, rhogef, and ph domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221472 ; - skos:exactMatch HGNC_symbol:FGD2 ; + skos:exactMatch UMLS:C1414595, + HGNC:3664, + HGNC_symbol:FGD2 ; biolink:category biolink:Gene . OMIM:605092 a owl:Class ; rdfs:label "PLAAT4" ; IAO:0000142 PMID:19615464, PMID:9843971 ; - oboInOwl:hasDbXref UMLS:C1419275 ; oboInOwl:hasExactSynonym "PLAAT4", "phospholipase a and acyltransferase 4", "retinoic acid receptor responder 3", @@ -200007,7 +206737,9 @@ OMIM:605092 a owl:Class ; "tazarotene-induced gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5920 ; - skos:exactMatch HGNC_symbol:PLAAT4 ; + skos:exactMatch UMLS:C1419275, + HGNC:9869, + HGNC_symbol:PLAAT4 ; biolink:category biolink:Gene . OMIM:605093 a owl:Class ; @@ -200022,23 +206754,23 @@ OMIM:605093 a owl:Class ; PMID:20843259 ; RO:0002525 CHR:9606chr12q24.12 ; RO:0003303 OMIM:187950 ; - oboInOwl:hasDbXref UMLS:C1822705, - UMLS:C2675103, - UMLS:C3276960, - UMLS:C3805370 ; oboInOwl:hasExactSynonym "SH2B3", "lymphocyte adaptor protein", "sh2b adaptor protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10019 ; - skos:exactMatch HGNC_symbol:SH2B3 ; + skos:exactMatch UMLS:C1822705, + UMLS:C2675103, + UMLS:C3276960, + UMLS:C3805370, + HGNC:29605, + HGNC_symbol:SH2B3 ; biolink:category biolink:Gene . OMIM:605094 a owl:Class ; rdfs:label "STEAP2" ; IAO:0000142 PMID:10613842, PMID:12095985 ; - oboInOwl:hasDbXref UMLS:C1425155 ; oboInOwl:hasExactSynonym "STEAP2", "ipca1", "prostate cancer-associated protein 1", @@ -200047,7 +206779,9 @@ OMIM:605094 a owl:Class ; "steap2 metalloreductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:261729 ; - skos:exactMatch HGNC_symbol:STEAP2 ; + skos:exactMatch UMLS:C1425155, + HGNC:17885, + HGNC_symbol:STEAP2 ; biolink:category biolink:Gene . OMIM:605095 a owl:Class ; @@ -200079,7 +206813,6 @@ OMIM:605100 a owl:Class ; PMID:9177166 ; RO:0002525 CHR:9606chr17q23.2 ; RO:0003303 OMIM:617450 ; - oboInOwl:hasDbXref UMLS:C1418816 ; oboInOwl:hasExactSynonym "PPM1D", "protein phosphatase, magnesium-dependent, 1, delta isoform", "protein phosphatase, magnesium-dependent, 1d", @@ -200087,7 +206820,9 @@ OMIM:605100 a owl:Class ; "wildtype p53-induced phosphatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8493 ; - skos:exactMatch HGNC_symbol:PPM1D ; + skos:exactMatch UMLS:C1418816, + HGNC:9277, + HGNC_symbol:PPM1D ; biolink:category biolink:Gene . OMIM:605101 a owl:Class ; @@ -200105,7 +206840,6 @@ OMIM:605101 a owl:Class ; PMID:8638164 ; RO:0002525 CHR:9606chr6q25.1 ; RO:0003303 OMIM:614980 ; - oboInOwl:hasDbXref UMLS:C1424725 ; oboInOwl:hasExactSynonym "TAB2", "kiaa0733", "mitogen-activated protein kinase kinase kinase 7-interacting protein 2", @@ -200114,7 +206848,9 @@ OMIM:605101 a owl:Class ; "tgf-beta-activated kinase 1/map3k7-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23118 ; - skos:exactMatch HGNC_symbol:TAB2 ; + skos:exactMatch UMLS:C1424725, + HGNC:17075, + HGNC_symbol:TAB2 ; biolink:category biolink:Gene . OMIM:605102 a owl:Class ; @@ -200130,13 +206866,14 @@ OMIM:605102 a owl:Class ; PMID:9087411 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:613791 ; - oboInOwl:hasDbXref UMLS:C1417037 ; oboInOwl:hasExactSynonym "MASP2", "mannan-binding lectin serine protease 2", "map19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10747 ; - skos:exactMatch HGNC_symbol:MASP2 ; + skos:exactMatch UMLS:C1417037, + HGNC:6902, + HGNC_symbol:MASP2 ; biolink:category biolink:Gene . OMIM:605103 a owl:Class ; @@ -200151,12 +206888,13 @@ OMIM:605103 a owl:Class ; PMID:28869974, PMID:28902842, PMID:7619205 ; - oboInOwl:hasDbXref UMLS:C1334887 ; oboInOwl:hasExactSynonym "NMU", "neuromedin u" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10874 ; - skos:exactMatch HGNC_symbol:NMU ; + skos:exactMatch UMLS:C1334887, + HGNC:7859, + HGNC_symbol:NMU ; biolink:category biolink:Gene . OMIM:605104 a owl:Class ; @@ -200174,7 +206912,6 @@ OMIM:605104 a owl:Class ; PMID:21623373, PMID:27481563, PMID:30318414 ; - oboInOwl:hasDbXref UMLS:C1854634 ; oboInOwl:hasExactSynonym "RBFOX1", "ataxin 2-binding protein 1", "fox1", @@ -200183,15 +206920,17 @@ OMIM:605104 a owl:Class ; "rna-binding protein fox1, c. elegans, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54715 ; - skos:exactMatch HGNC_symbol:RBFOX1 ; + skos:exactMatch UMLS:C1854634, + HGNC:18222, + HGNC_symbol:RBFOX1 ; biolink:category biolink:Gene . OMIM:605105 a owl:Class ; rdfs:label "early response to neural induction gene" ; IAO:0000142 PMID:10894544 ; - oboInOwl:hasDbXref UMLS:C1854633 ; oboInOwl:hasExactSynonym "early response to neural induction gene", - "erni" . + "erni" ; + skos:exactMatch UMLS:C1854633 . OMIM:605106 a owl:Class ; rdfs:label "LPAR3" ; @@ -200200,7 +206939,6 @@ OMIM:605106 a owl:Class ; PMID:11313151, PMID:12037142, PMID:15875025 ; - oboInOwl:hasDbXref UMLS:C1422553 ; oboInOwl:hasExactSynonym "LPAR3", "endothelial differentiation gene 7", "lpa receptor edg7", @@ -200208,32 +206946,36 @@ OMIM:605106 a owl:Class ; "lysophosphatidic acid receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23566 ; - skos:exactMatch HGNC_symbol:LPAR3 ; + skos:exactMatch UMLS:C1422553, + HGNC:14298, + HGNC_symbol:LPAR3 ; biolink:category biolink:Gene . OMIM:605107 a owl:Class ; rdfs:label "EDF1" ; IAO:0000142 PMID:9813014 ; - oboInOwl:hasDbXref UMLS:C1414252 ; oboInOwl:hasExactSynonym "EDF1", "endothelial differentiation-related factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8721 ; - skos:exactMatch HGNC_symbol:EDF1 ; + skos:exactMatch UMLS:C1414252, + HGNC:3164, + HGNC_symbol:EDF1 ; biolink:category biolink:Gene . OMIM:605108 a owl:Class ; rdfs:label "NMUR2" ; IAO:0000142 PMID:10894543, PMID:10899166 ; - oboInOwl:hasDbXref UMLS:C1424293 ; oboInOwl:hasExactSynonym "NMUR2", "growth hormone secretagogue receptor family, member 4", "neuromedin u receptor 2", "nmu2r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56923 ; - skos:exactMatch HGNC_symbol:NMUR2 ; + skos:exactMatch UMLS:C1424293, + HGNC:16454, + HGNC_symbol:NMUR2 ; biolink:category biolink:Gene . OMIM:605109 a owl:Class ; @@ -200250,13 +206992,14 @@ OMIM:605109 a owl:Class ; PMID:9233772 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:617011 ; - oboInOwl:hasDbXref UMLS:C1415511 ; oboInOwl:hasExactSynonym "HERC1", "hect domain and rcc1-like domain 1", "p532" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8925 ; - skos:exactMatch HGNC_symbol:HERC1 ; + skos:exactMatch UMLS:C1415511, + HGNC:4867, + HGNC_symbol:HERC1 ; biolink:category biolink:Gene . OMIM:605110 a owl:Class ; @@ -200266,7 +207009,6 @@ OMIM:605110 a owl:Class ; PMID:12037142, PMID:9525886, PMID:9804623 ; - oboInOwl:hasDbXref UMLS:C1414256 ; oboInOwl:hasExactSynonym "LPAR2", "endothelial differentiation gene 4", "lpa receptor edg4", @@ -200275,7 +207017,9 @@ OMIM:605110 a owl:Class ; "lysophosphatidic acid receptor edg4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9170 ; - skos:exactMatch HGNC_symbol:LPAR2 ; + skos:exactMatch UMLS:C1414256, + HGNC:3168, + HGNC_symbol:LPAR2 ; biolink:category biolink:Gene . OMIM:605111 a owl:Class ; @@ -200297,14 +207041,15 @@ OMIM:605111 a owl:Class ; PMID:8087418 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:610419 ; - oboInOwl:hasDbXref UMLS:C1414257 ; oboInOwl:hasExactSynonym "S1PR2", "endothelial differentiation gene 5", "s1p receptor 2", "sphingosine-1-phosphate receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9294 ; - skos:exactMatch HGNC_symbol:S1PR2 ; + skos:exactMatch UMLS:C1414257, + HGNC:3169, + HGNC_symbol:S1PR2 ; biolink:category biolink:Gene . OMIM:605112 a owl:Class ; @@ -200312,15 +207057,16 @@ OMIM:605112 a owl:Class ; IAO:0000142 PMID:10662549, PMID:11318603, PMID:12736278 ; - oboInOwl:hasDbXref UMLS:C1420781, - UMLS:C3468042 ; oboInOwl:hasExactSynonym "TMOD3", "tmod3/cyp19a1 fusion gene", "tropomodulin 3", "tropomodulin, ubiquitous" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29766 ; - skos:exactMatch HGNC_symbol:TMOD3 ; + skos:exactMatch UMLS:C1420781, + UMLS:C3468042, + HGNC:11873, + HGNC_symbol:TMOD3 ; biolink:category biolink:Gene . OMIM:605113 a owl:Class ; @@ -200332,13 +207078,14 @@ OMIM:605113 a owl:Class ; PMID:934735 ; RO:0002525 CHR:9606chr7q31.32 ; RO:0003303 OMIM:238700 ; - oboInOwl:hasDbXref UMLS:C0543533, - UMLS:C1424938 ; oboInOwl:hasExactSynonym "AASS", "alpha-aminoadipic semialdehyde synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10157 ; - skos:exactMatch HGNC_symbol:AASS ; + skos:exactMatch UMLS:C0543533, + UMLS:C1424938, + HGNC:17366, + HGNC_symbol:AASS ; biolink:category biolink:Gene . OMIM:605114 a owl:Class ; @@ -200355,21 +207102,22 @@ OMIM:605114 a owl:Class ; PMID:22002603, PMID:22002605, PMID:26917764 ; - oboInOwl:hasDbXref UMLS:C1335860 ; oboInOwl:hasExactSynonym "SPO11", "spo11 initiator of meiotic double-stranded breaks", "spo11, s. cerevisiae, homolog of", "topoisomerase vi-a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23626 ; - skos:exactMatch HGNC_symbol:SPO11 ; + skos:exactMatch UMLS:C1335860, + HGNC:11250, + HGNC_symbol:SPO11 ; biolink:category biolink:Gene . OMIM:605115 a owl:Class ; rdfs:label "hypertension, early-onset, autosomal dominant, with severe exacerbation 1n pregnancy" ; IAO:0000142 PMID:10884226 ; - oboInOwl:hasDbXref UMLS:C1854631 ; oboInOwl:hasExactSynonym "hypertension, early-onset, autosomal dominant, with severe exacerbation 1n pregnancy" ; + skos:exactMatch UMLS:C1854631 ; biolink:category biolink:Disease . OMIM:605116 a owl:Class ; @@ -200378,13 +207126,14 @@ OMIM:605116 a owl:Class ; PMID:11021840, PMID:12697997, PMID:17101979 ; - oboInOwl:hasDbXref UMLS:C1422395 ; oboInOwl:hasExactSynonym "CHRNA9", "acetylcholine receptor, neuronal nicotinic, alpha-9 subunit", "cholinergic receptor, neuronal nicotinic, alpha polypeptide 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55584 ; - skos:exactMatch HGNC_symbol:CHRNA9 ; + skos:exactMatch UMLS:C1422395, + HGNC:14079, + HGNC_symbol:CHRNA9 ; biolink:category biolink:Gene . OMIM:605117 a owl:Class ; @@ -200399,20 +207148,20 @@ OMIM:605117 a owl:Class ; PMID:9266833, PMID:9344848, PMID:9727029 ; - oboInOwl:hasDbXref UMLS:C1426207 ; oboInOwl:hasExactSynonym "SOCS2", "cytokine-inducible sh2 protein 2", "stat-induced stat inhibitor 2", "suppressor of cytokine signaling 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8835 ; - skos:exactMatch HGNC_symbol:SOCS2 ; + skos:exactMatch UMLS:C1426207, + HGNC:19382, + HGNC_symbol:SOCS2 ; biolink:category biolink:Gene . OMIM:605118 a owl:Class ; rdfs:label "SOCS6" ; IAO:0000142 PMID:9344848 ; - oboInOwl:hasDbXref UMLS:C1424581 ; oboInOwl:hasExactSynonym "SOCS6", "cytokine-inducible sh2 protein 4", "stat-induced stat inhibitor 4", @@ -200420,14 +207169,15 @@ OMIM:605118 a owl:Class ; "suppressor of cytokine signaling 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9306 ; - skos:exactMatch HGNC_symbol:SOCS6 ; + skos:exactMatch UMLS:C1424581, + HGNC:16833, + HGNC_symbol:SOCS6 ; biolink:category biolink:Gene . OMIM:605119 a owl:Class ; rdfs:label "PPM1G" ; IAO:0000142 PMID:9276438, PMID:9887102 ; - oboInOwl:hasDbXref UMLS:C1418817 ; oboInOwl:hasExactSynonym "PPM1G", "pp2c-gamma", "protein phosphatase 2c, gamma isoform", @@ -200436,7 +207186,9 @@ OMIM:605119 a owl:Class ; "protein phosphatase, magnesium/manganese-dependent, 1g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5496 ; - skos:exactMatch HGNC_symbol:PPM1G ; + skos:exactMatch UMLS:C1418817, + HGNC:9278, + HGNC_symbol:PPM1G ; biolink:category biolink:Gene . OMIM:605120 a owl:Class ; @@ -200452,13 +207204,14 @@ OMIM:605120 a owl:Class ; PMID:26056270 ; RO:0002525 CHR:9606chr10q11.22 ; RO:0003303 OMIM:615506 ; - oboInOwl:hasDbXref UMLS:C1415033 ; oboInOwl:hasExactSynonym "GDF2", "bone morphogenetic protein 9", "growth/differentiation factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2658 ; - skos:exactMatch HGNC_symbol:GDF2 ; + skos:exactMatch UMLS:C1415033, + HGNC:4217, + HGNC_symbol:GDF2 ; biolink:category biolink:Gene . OMIM:605121 a owl:Class ; @@ -200466,14 +207219,15 @@ OMIM:605121 a owl:Class ; IAO:0000142 PMID:10758157, PMID:15805466, PMID:15989966 ; - oboInOwl:hasDbXref UMLS:C1539701 ; oboInOwl:hasExactSynonym "RNA polymerase 1 transcription factor rrn3", "RRN3", "rrn3, s. cerevisiae, homolog of", "transcription initiation factor 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54700 ; - skos:exactMatch HGNC_symbol:RRN3 ; + skos:exactMatch UMLS:C1539701, + HGNC:30346, + HGNC_symbol:RRN3 ; biolink:category biolink:Gene . OMIM:605122 a owl:Class ; @@ -200482,13 +207236,14 @@ OMIM:605122 a owl:Class ; PMID:18063578, PMID:19145458, PMID:9925937 ; - oboInOwl:hasDbXref UMLS:C1420525 ; oboInOwl:hasExactSynonym "SUPV3L1", "s. cerevisiae suppressor of var1 3-like 1", "suv3-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6832 ; - skos:exactMatch HGNC_symbol:SUPV3L1 ; + skos:exactMatch UMLS:C1420525, + HGNC:11471, + HGNC_symbol:SUPV3L1 ; biolink:category biolink:Gene . OMIM:605123 a owl:Class ; @@ -200497,14 +207252,15 @@ OMIM:605123 a owl:Class ; PMID:11290548, PMID:19389929, PMID:9045658 ; - oboInOwl:hasDbXref UMLS:C1420361 ; oboInOwl:hasExactSynonym "SPINT1", "hepatocyte growth factor activator inhibitor", "serine peptidase inhibitor, kunitz-type, 1", "serine protease inhibitor, kunitz-type, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6692 ; - skos:exactMatch HGNC_symbol:SPINT1 ; + skos:exactMatch UMLS:C1420361, + HGNC:11246, + HGNC_symbol:SPINT1 ; biolink:category biolink:Gene . OMIM:605124 a owl:Class ; @@ -200523,7 +207279,6 @@ OMIM:605124 a owl:Class ; PMID:9434156 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:270420 ; - oboInOwl:hasDbXref UMLS:C1420362 ; oboInOwl:hasExactSynonym "SPINT2", "bikunin, placental", "hepatocyte growth factor activator inhibitor 2", @@ -200531,7 +207286,9 @@ OMIM:605124 a owl:Class ; "serine protease inhibitor, kunitz-type, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10653 ; - skos:exactMatch HGNC_symbol:SPINT2 ; + skos:exactMatch UMLS:C1420362, + HGNC:11247, + HGNC_symbol:SPINT2 ; biolink:category biolink:Gene . OMIM:605125 a owl:Class ; @@ -200540,12 +207297,13 @@ OMIM:605125 a owl:Class ; PMID:20111057, PMID:20562859, PMID:9892355 ; - oboInOwl:hasDbXref UMLS:C1414901 ; oboInOwl:hasExactSynonym "GABARAP", "gaba-a receptor-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11337 ; - skos:exactMatch HGNC_symbol:GABARAP ; + skos:exactMatch UMLS:C1414901, + HGNC:4067, + HGNC_symbol:GABARAP ; biolink:category biolink:Gene . OMIM:605126 a owl:Class ; @@ -200556,37 +207314,40 @@ OMIM:605126 a owl:Class ; PMID:11327716, PMID:12493914, PMID:15247423 ; - oboInOwl:hasDbXref UMLS:C1424942 ; oboInOwl:hasExactSynonym "FHL5", "activator of crem 1n testis", "four-and-a-half 51m domains 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9457 ; - skos:exactMatch HGNC_symbol:FHL5 ; + skos:exactMatch UMLS:C1424942, + HGNC:17371, + HGNC_symbol:FHL5 ; biolink:category biolink:Gene . OMIM:605127 a owl:Class ; rdfs:label "OPTC" ; IAO:0000142 PMID:10636917, PMID:12019215 ; - oboInOwl:hasDbXref UMLS:C1417967 ; oboInOwl:hasExactSynonym "OPTC", "opticin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26254 ; - skos:exactMatch HGNC_symbol:OPTC ; + skos:exactMatch UMLS:C1417967, + HGNC:8158, + HGNC_symbol:OPTC ; biolink:category biolink:Gene . OMIM:605128 a owl:Class ; rdfs:label "GUCA1C" ; IAO:0000142 PMID:10037746 ; - oboInOwl:hasDbXref UMLS:C1415356 ; oboInOwl:hasExactSynonym "GUCA1C", "guanylate cyclase activator 1c", "guanylate cyclase-activating protein, photoreceptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9626 ; - skos:exactMatch HGNC_symbol:GUCA1C ; + skos:exactMatch UMLS:C1415356, + HGNC:4680, + HGNC_symbol:GUCA1C ; biolink:category biolink:Gene . OMIM:605129 a owl:Class ; @@ -200596,7 +207357,6 @@ OMIM:605129 a owl:Class ; PMID:1968796, PMID:7951316, PMID:9218537 ; - oboInOwl:hasDbXref UMLS:C1419043 ; oboInOwl:hasExactSynonym "PSME3", "ki antigen", "pa28-gamma", @@ -200605,7 +207365,9 @@ OMIM:605129 a owl:Class ; "reg-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10197 ; - skos:exactMatch HGNC_symbol:PSME3 ; + skos:exactMatch UMLS:C1419043, + HGNC:9570, + HGNC_symbol:PSME3 ; biolink:category biolink:Gene . OMIM:605131 a owl:Class ; @@ -200628,11 +207390,6 @@ OMIM:605131 a owl:Class ; PMID:25411445 ; RO:0002525 CHR:9606chr16q23.1-q23.2 ; RO:0003303 OMIM:614322 ; - oboInOwl:hasDbXref UMLS:C1414724, - UMLS:C1421525, - UMLS:C3280452, - UMLS:C4015519, - UMLS:C4016881 ; oboInOwl:hasExactSynonym "WWOX", "fragile site 16q23.2", "fragile site fra16d oxidoreductase", @@ -200640,7 +207397,13 @@ OMIM:605131 a owl:Class ; "ww domain-containing oxidoreductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51741 ; - skos:exactMatch HGNC_symbol:WWOX ; + skos:exactMatch UMLS:C1414724, + UMLS:C1421525, + UMLS:C3280452, + UMLS:C4015519, + UMLS:C4016881, + HGNC:12799, + HGNC_symbol:WWOX ; biolink:category biolink:Gene . OMIM:605132 a owl:Class ; @@ -200649,7 +207412,6 @@ OMIM:605132 a owl:Class ; PMID:12153506, PMID:1303260, PMID:16015647 ; - oboInOwl:hasDbXref UMLS:C1420755 ; oboInOwl:hasExactSynonym "TLE4", "enhancer of split groucho 4", "groucho-related gene 4", @@ -200657,7 +207419,9 @@ OMIM:605132 a owl:Class ; "transducin-like enhancer of split 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7091 ; - skos:exactMatch HGNC_symbol:TLE4 ; + skos:exactMatch UMLS:C1420755, + HGNC:11840, + HGNC_symbol:TLE4 ; biolink:category biolink:Gene . OMIM:605133 a owl:Class ; @@ -200666,7 +207430,6 @@ OMIM:605133 a owl:Class ; PMID:26382858, PMID:7478990, PMID:7651522 ; - oboInOwl:hasDbXref UMLS:C1417607 ; oboInOwl:hasExactSynonym "NCBP2", "cap-binding protein, 20-kd", "nuclear cap-binding protein 2", @@ -200674,19 +207437,22 @@ OMIM:605133 a owl:Class ; "nuclear cap-binding protein-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22916 ; - skos:exactMatch HGNC_symbol:NCBP2 ; + skos:exactMatch UMLS:C1417607, + HGNC:7659, + HGNC_symbol:NCBP2 ; biolink:category biolink:Gene . OMIM:605134 a owl:Class ; rdfs:label "PITPNC1" ; IAO:0000142 PMID:10531358 ; - oboInOwl:hasDbXref UMLS:C1427271 ; oboInOwl:hasExactSynonym "PITPNC1", "phosphatidylinositol transfer protein, cytoplasmic, 1", "retinal degeneration gene b, drosophila, homolog of, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26207 ; - skos:exactMatch HGNC_symbol:PITPNC1 ; + skos:exactMatch UMLS:C1427271, + HGNC:21045, + HGNC_symbol:PITPNC1 ; biolink:category biolink:Gene . OMIM:605135 a owl:Class ; @@ -200706,40 +207472,43 @@ OMIM:605138 a owl:Class ; IAO:0000142 PMID:10781085, PMID:19893612, PMID:21712390 ; - oboInOwl:hasDbXref UMLS:C1417923 ; oboInOwl:hasExactSynonym "OAZ3", "antizyme 3", "ornithine decarboxylase antizyme 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51686 ; - skos:exactMatch HGNC_symbol:OAZ3 ; + skos:exactMatch UMLS:C1417923, + HGNC:8097, + HGNC_symbol:OAZ3 ; biolink:category biolink:Gene . OMIM:605139 a owl:Class ; rdfs:label "CCT2" ; IAO:0000142 PMID:9819444 ; - oboInOwl:hasDbXref UMLS:C1413194 ; oboInOwl:hasExactSynonym "CCT2", "cct-beta", "chaperonin containing t-complex polypeptide 1, subunit 2", "chaperonin containing tcp1, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10576 ; - skos:exactMatch HGNC_symbol:CCT2 ; + skos:exactMatch UMLS:C1413194, + HGNC:1615, + HGNC_symbol:CCT2 ; biolink:category biolink:Gene . OMIM:605140 a owl:Class ; rdfs:label "CCT7" ; IAO:0000142 PMID:9383053, PMID:9819444 ; - oboInOwl:hasDbXref UMLS:C1413200 ; oboInOwl:hasExactSynonym "CCT7", "cct-eta", "chaperonin containing t-complex polypeptide 1, subunit 7", "chaperonin containing tcp1, subunit 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10574 ; - skos:exactMatch HGNC_symbol:CCT7 ; + skos:exactMatch UMLS:C1413200, + HGNC:1622, + HGNC_symbol:CCT7 ; biolink:category biolink:Gene . OMIM:605141 a owl:Class ; @@ -200748,14 +207517,15 @@ OMIM:605141 a owl:Class ; PMID:3117530, PMID:3138073, PMID:3139558 ; - oboInOwl:hasDbXref UMLS:C1421462 ; oboInOwl:hasExactSynonym "VPREB1", "immunoglobulin iota polypeptide chain", "pre-b-lymphocyte gene 1", "vpreb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7441 ; - skos:exactMatch HGNC_symbol:VPREB1 ; + skos:exactMatch UMLS:C1421462, + HGNC:12709, + HGNC_symbol:VPREB1 ; biolink:category biolink:Gene . OMIM:605142 a owl:Class ; @@ -200764,7 +207534,6 @@ OMIM:605142 a owl:Class ; PMID:7298497, PMID:8626763, PMID:9819444 ; - oboInOwl:hasDbXref UMLS:C1413196 ; oboInOwl:hasExactSynonym "CCT4", "cct-delta", "chaperonin containing t-complex polypeptide 1, subunit 4", @@ -200772,7 +207541,9 @@ OMIM:605142 a owl:Class ; "stimulator of tar rna-binding proteins" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10575 ; - skos:exactMatch HGNC_symbol:CCT4 ; + skos:exactMatch UMLS:C1413196, + HGNC:1617, + HGNC_symbol:CCT4 ; biolink:category biolink:Gene . OMIM:605143 a owl:Class ; @@ -200782,21 +207553,21 @@ OMIM:605143 a owl:Class ; PMID:1528266, PMID:2047873, PMID:7696711 ; - oboInOwl:hasDbXref UMLS:C1412169 ; oboInOwl:hasExactSynonym "ACTR1A", "actin-related protein 1a", "arp1", "centractin, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10121 ; - skos:exactMatch HGNC_symbol:ACTR1A ; + skos:exactMatch UMLS:C1412169, + HGNC:167, + HGNC_symbol:ACTR1A ; biolink:category biolink:Gene . OMIM:605144 a owl:Class ; rdfs:label "ACTR1B" ; IAO:0000142 PMID:10343100, PMID:7696711 ; - oboInOwl:hasDbXref UMLS:C1412170 ; oboInOwl:hasExactSynonym "ACTR1B", "actin-related protein 1b", "arp1b", @@ -200804,7 +207575,9 @@ OMIM:605144 a owl:Class ; "ctrn2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10120 ; - skos:exactMatch HGNC_symbol:ACTR1B ; + skos:exactMatch UMLS:C1412170, + HGNC:168, + HGNC_symbol:ACTR1B ; biolink:category biolink:Gene . OMIM:605145 a owl:Class ; @@ -200826,28 +207599,30 @@ OMIM:605145 a owl:Class ; PMID:9915952 ; RO:0002525 CHR:9606chr5p15.2 ; RO:0003303 OMIM:123000 ; - oboInOwl:hasDbXref UMLS:C1423529 ; oboInOwl:hasExactSynonym "ANKH", "ank, mouse, homolog of", "ankh inorganic pyrophosphate transport regulator", "hank" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56172 ; - skos:exactMatch HGNC_symbol:ANKH ; + skos:exactMatch UMLS:C1423529, + HGNC:15492, + HGNC_symbol:ANKH ; biolink:category biolink:Gene . OMIM:605146 a owl:Class ; rdfs:label "S1PR5" ; IAO:0000142 PMID:10799507, PMID:12037142 ; - oboInOwl:hasDbXref UMLS:C1422554 ; oboInOwl:hasExactSynonym "S1PR5", "endothelial differentiation gene 8", "s1p receptor 5", "sphingosine-1-phosphate receptor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53637 ; - skos:exactMatch HGNC_symbol:S1PR5 ; + skos:exactMatch UMLS:C1422554, + HGNC:14299, + HGNC_symbol:S1PR5 ; biolink:category biolink:Gene . OMIM:605147 a owl:Class ; @@ -200858,27 +207633,29 @@ OMIM:605147 a owl:Class ; PMID:12509461, PMID:16980969, PMID:9731231 ; - oboInOwl:hasDbXref UMLS:C1424681 ; oboInOwl:hasExactSynonym "LECT1", "chondromodulin 1", "chondromodulin 1 precursor", "leukocyte cell-derived chemotaxin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11061 ; - skos:exactMatch HGNC_symbol:CNMD ; + skos:exactMatch UMLS:C1424681, + HGNC:17005, + HGNC_symbol:CNMD ; biolink:category biolink:Gene . OMIM:605148 a owl:Class ; rdfs:label "GALNT6" ; IAO:0000142 PMID:10464263, PMID:9592121 ; - oboInOwl:hasDbXref UMLS:C1414956 ; oboInOwl:hasExactSynonym "GALNT6", "galnac transferase 6", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11226 ; - skos:exactMatch HGNC_symbol:GALNT6 ; + skos:exactMatch UMLS:C1414956, + HGNC:4128, + HGNC_symbol:GALNT6 ; biolink:category biolink:Gene . OMIM:605149 a owl:Class ; @@ -200900,7 +207677,6 @@ OMIM:605149 a owl:Class ; PMID:31168092, PMID:9463416, PMID:9486651 ; - oboInOwl:hasDbXref UMLS:C1366572 ; oboInOwl:hasExactSynonym "B cell-attracting chemokine 1", "CXCL13", "b-lymphocyte chemoattractant", @@ -200908,7 +207684,9 @@ OMIM:605149 a owl:Class ; "small inducible cytokine subfamily b, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10563 ; - skos:exactMatch HGNC_symbol:CXCL13 ; + skos:exactMatch UMLS:C1366572, + HGNC:10639, + HGNC_symbol:CXCL13 ; biolink:category biolink:Gene . OMIM:605150 a owl:Class ; @@ -200924,14 +207702,15 @@ OMIM:605152 a owl:Class ; IAO:0000142 PMID:10524255 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:619608 ; - oboInOwl:hasDbXref UMLS:C1824545 ; oboInOwl:hasExactSynonym "CFAP45", "cilia- and flagella-associated protein 45", "coiled-coil domain-containing protein 19", "nasopharyngeal epithelium-specific protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25790 ; - skos:exactMatch HGNC_symbol:CFAP45 ; + skos:exactMatch UMLS:C1824545, + HGNC:17229, + HGNC_symbol:CFAP45 ; biolink:category biolink:Gene . OMIM:605153 a owl:Class ; @@ -200941,12 +207720,13 @@ OMIM:605153 a owl:Class ; PMID:11060459, PMID:30209400, PMID:9620797 ; - oboInOwl:hasDbXref UMLS:C1419254 ; oboInOwl:hasExactSynonym "RAMP1", "receptor activity-modifying protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10267 ; - skos:exactMatch HGNC_symbol:RAMP1 ; + skos:exactMatch UMLS:C1419254, + HGNC:9843, + HGNC_symbol:RAMP1 ; biolink:category biolink:Gene . OMIM:605154 a owl:Class ; @@ -200958,12 +207738,13 @@ OMIM:605154 a owl:Class ; PMID:17470425, PMID:8626685, PMID:9620797 ; - oboInOwl:hasDbXref UMLS:C1419255 ; oboInOwl:hasExactSynonym "RAMP2", "receptor activity-modifying protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10266 ; - skos:exactMatch HGNC_symbol:RAMP2 ; + skos:exactMatch UMLS:C1419255, + HGNC:9844, + HGNC_symbol:RAMP2 ; biolink:category biolink:Gene . OMIM:605155 a owl:Class ; @@ -200974,12 +207755,13 @@ OMIM:605155 a owl:Class ; PMID:17470425, PMID:8626685, PMID:9620797 ; - oboInOwl:hasDbXref UMLS:C1419256 ; oboInOwl:hasExactSynonym "RAMP3", "receptor activity-modifying protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10268 ; - skos:exactMatch HGNC_symbol:RAMP3 ; + skos:exactMatch UMLS:C1419256, + HGNC:9845, + HGNC_symbol:RAMP3 ; biolink:category biolink:Gene . OMIM:605156 a owl:Class ; @@ -200989,50 +207771,52 @@ OMIM:605156 a owl:Class ; OMIM:605157 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10441517 ; - oboInOwl:hasDbXref UMLS:C1854597 ; oboInOwl:hasExactSynonym "p53-responsive gene 1", "prg1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23574 ; + skos:exactMatch UMLS:C1854597 ; biolink:category biolink:Gene . OMIM:605159 a owl:Class ; rdfs:label "AIFM2" ; IAO:0000142 PMID:10441517, PMID:31634900 ; - oboInOwl:hasDbXref UMLS:C1826619 ; oboInOwl:hasExactSynonym "AIFM2", "apoptosis-inducing factor, mitochondria-associated, 2", "ferroptosis suppressor protein 1", "p53-responsive gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84883 ; - skos:exactMatch HGNC_symbol:AIFM2 ; + skos:exactMatch UMLS:C1826619, + HGNC:21411, + HGNC_symbol:AIFM2 ; biolink:category biolink:Gene . OMIM:605160 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10441517 ; - oboInOwl:hasDbXref UMLS:C1854596 ; oboInOwl:hasExactSynonym "flj36000", "p53-responsive gene 4", "prg4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284124 ; + skos:exactMatch UMLS:C1854596 ; biolink:category biolink:Gene . OMIM:605161 a owl:Class ; rdfs:label "WFDC5" ; IAO:0000142 PMID:10441517, PMID:12206714 ; - oboInOwl:hasDbXref UMLS:C1426961 ; oboInOwl:hasExactSynonym "WFDC5", "p53-responsive gene 5", "wap 4-disulfide core domain 5", "whey acidic protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149708 ; - skos:exactMatch HGNC_symbol:WFDC5 ; + skos:exactMatch UMLS:C1426961, + HGNC:20477, + HGNC_symbol:WFDC5 ; biolink:category biolink:Gene . OMIM:605162 a owl:Class ; @@ -201040,7 +207824,6 @@ OMIM:605162 a owl:Class ; IAO:0000142 PMID:10441517, PMID:17804717, PMID:22819524 ; - oboInOwl:hasDbXref UMLS:C1428913 ; oboInOwl:hasExactSynonym "GADD45GIP1", "cr6-interacting factor 1", "gadd45g-interacting protein", @@ -201048,7 +207831,9 @@ OMIM:605162 a owl:Class ; "p53-responsive gene 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90480 ; - skos:exactMatch HGNC_symbol:GADD45GIP1 ; + skos:exactMatch UMLS:C1428913, + HGNC:29996, + HGNC_symbol:GADD45GIP1 ; biolink:category biolink:Gene . OMIM:605163 a owl:Class ; @@ -201059,14 +207844,15 @@ OMIM:605163 a owl:Class ; PMID:29798856, PMID:9166430, PMID:9230441 ; - oboInOwl:hasDbXref UMLS:C1332824 ; oboInOwl:hasExactSynonym "CXCR6", "bonzo", "chemokine, cxc motif, receptor 6", "g protein-coupled receptor strl33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10663 ; - skos:exactMatch HGNC_symbol:CXCR6 ; + skos:exactMatch UMLS:C1332824, + HGNC:16647, + HGNC_symbol:CXCR6 ; biolink:category biolink:Gene . OMIM:605164 a owl:Class ; @@ -201090,13 +207876,14 @@ OMIM:605164 a owl:Class ; PMID:9651585, PMID:9722949, PMID:9782097 ; - oboInOwl:hasDbXref UMLS:C1333892 ; oboInOwl:hasExactSynonym "HDAC2", "histone deacetylase 2", "yy1-associated factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3066 ; - skos:exactMatch HGNC_symbol:HDAC2 ; + skos:exactMatch UMLS:C1333892, + HGNC:4853, + HGNC_symbol:HDAC2 ; biolink:category biolink:Gene . OMIM:605165 a owl:Class ; @@ -201106,9 +207893,6 @@ OMIM:605165 a owl:Class ; PMID:10949935, PMID:12881716, PMID:16491076 ; - oboInOwl:hasDbXref UMLS:C1826545, - UMLS:C1854595, - UMLS:C3151208 ; oboInOwl:hasExactSynonym "ZNF278", "maz-related factor", "poz-, at hook-, and zinc finger-containing protein", @@ -201118,7 +207902,11 @@ OMIM:605165 a owl:Class ; "znf278/uqcrh fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23598 ; - skos:exactMatch HGNC_symbol:PATZ1 ; + skos:exactMatch UMLS:C1826545, + UMLS:C1854595, + UMLS:C3151208, + HGNC:13071, + HGNC_symbol:PATZ1 ; biolink:category biolink:Gene . OMIM:605166 a owl:Class ; @@ -201147,12 +207935,13 @@ OMIM:605166 a owl:Class ; PMID:9464271, PMID:9501169, PMID:9722949 ; - oboInOwl:hasDbXref UMLS:C1366355 ; oboInOwl:hasExactSynonym "HDAC3", "histone deacetylase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8841 ; - skos:exactMatch HGNC_symbol:HDAC3 ; + skos:exactMatch UMLS:C1366355, + HGNC:4854, + HGNC_symbol:HDAC3 ; biolink:category biolink:Gene . OMIM:605167 a owl:Class ; @@ -201160,13 +207949,14 @@ OMIM:605167 a owl:Class ; IAO:0000142 PMID:12461691, PMID:12676563, PMID:7895173 ; - oboInOwl:hasDbXref UMLS:C1412732 ; oboInOwl:hasExactSynonym "B melanoma antigen", "BAGE", "bage family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574 ; - skos:exactMatch HGNC_symbol:BAGE ; + skos:exactMatch UMLS:C1412732, + HGNC:942, + HGNC_symbol:BAGE ; biolink:category biolink:Gene . OMIM:605168 a owl:Class ; @@ -201176,14 +207966,15 @@ OMIM:605168 a owl:Class ; PMID:28219080, PMID:8092987, PMID:9795232 ; - oboInOwl:hasDbXref UMLS:C1333528 ; oboInOwl:hasExactSynonym "FABP5", "fatty acid-binding protein 5", "fatty acid-binding protein, epidermal", "fatty acid-binding protein, psoriasis-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2171 ; - skos:exactMatch HGNC_symbol:FABP5 ; + skos:exactMatch UMLS:C1333528, + HGNC:3560, + HGNC_symbol:FABP5 ; biolink:category biolink:Gene . OMIM:605169 a owl:Class ; @@ -201193,14 +207984,15 @@ OMIM:605169 a owl:Class ; PMID:20354077, PMID:9570133, PMID:9840936 ; - oboInOwl:hasDbXref UMLS:C1414378 ; oboInOwl:hasExactSynonym "ELF5", "e74-like ets transcription factor 5", "e74-like factor 5", "epithelium-specific ets factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2001 ; - skos:exactMatch HGNC_symbol:ELF5 ; + skos:exactMatch UMLS:C1414378, + HGNC:3320, + HGNC_symbol:ELF5 ; biolink:category biolink:Gene . OMIM:605170 a owl:Class ; @@ -201208,27 +208000,29 @@ OMIM:605170 a owl:Class ; IAO:0000142 PMID:10594026, PMID:10965130, PMID:9305847 ; - oboInOwl:hasDbXref UMLS:C1421918 ; oboInOwl:hasExactSynonym "EI24", "ei24, mouse, homolog of", "etoposide-induced 1.4 mrna", "p53-induced gene 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9538 ; - skos:exactMatch HGNC_symbol:EI24 ; + skos:exactMatch UMLS:C1421918, + HGNC:13276, + HGNC_symbol:EI24 ; biolink:category biolink:Gene . OMIM:605171 a owl:Class ; rdfs:label "TP53I3" ; IAO:0000142 PMID:11919562, PMID:9305847 ; - oboInOwl:hasDbXref UMLS:C1426201 ; oboInOwl:hasExactSynonym "TP53I3", "p53-induced gene 3", "tumor protein p53-inducible protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9540 ; - skos:exactMatch HGNC_symbol:TP53I3 ; + skos:exactMatch UMLS:C1426201, + HGNC:19373, + HGNC_symbol:TP53I3 ; biolink:category biolink:Gene . OMIM:605172 a owl:Class ; @@ -201241,7 +208035,6 @@ OMIM:605172 a owl:Class ; PMID:14566340, PMID:31320508, PMID:9305847 ; - oboInOwl:hasDbXref UMLS:C1419067 ; oboInOwl:hasExactSynonym "PTGES", "mgst1-like 1", "p53-induced gene 12", @@ -201250,7 +208043,9 @@ OMIM:605172 a owl:Class ; "prostaglandin e synthase, microsomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9536 ; - skos:exactMatch HGNC_symbol:PTGES ; + skos:exactMatch UMLS:C1419067, + HGNC:9599, + HGNC_symbol:PTGES ; biolink:category biolink:Gene . OMIM:605173 a owl:Class ; @@ -201262,14 +208057,15 @@ OMIM:605173 a owl:Class ; PMID:9305847, PMID:9566959, PMID:9683534 ; - oboInOwl:hasDbXref UMLS:C1414398 ; oboInOwl:hasExactSynonym "ENC1", "ectodermal-neural cortex 1", "nuclear restricted protein/brain", "p53-induced gene 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8507 ; - skos:exactMatch HGNC_symbol:ENC1 ; + skos:exactMatch UMLS:C1414398, + HGNC:3345, + HGNC_symbol:ENC1 ; biolink:category biolink:Gene . OMIM:605174 a owl:Class ; @@ -201280,39 +208076,42 @@ OMIM:605174 a owl:Class ; PMID:15094112, PMID:15368195, PMID:8995297 ; - oboInOwl:hasDbXref UMLS:C1332018 ; oboInOwl:hasExactSynonym "ADAMTS1", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 1", "meth1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9510 ; - skos:exactMatch HGNC_symbol:ADAMTS1 ; + skos:exactMatch UMLS:C1332018, + HGNC:217, + HGNC_symbol:ADAMTS1 ; biolink:category biolink:Gene . OMIM:605175 a owl:Class ; rdfs:label "ADAMTS8" ; IAO:0000142 PMID:10438512, PMID:10610729 ; - oboInOwl:hasDbXref UMLS:C1412214 ; oboInOwl:hasExactSynonym "ADAMTS8", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 8", "meth2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11095 ; - skos:exactMatch HGNC_symbol:ADAMTS8 ; + skos:exactMatch UMLS:C1412214, + HGNC:224, + HGNC_symbol:ADAMTS8 ; biolink:category biolink:Gene . OMIM:605176 a owl:Class ; rdfs:label "HAO2" ; IAO:0000142 PMID:10777549 ; - oboInOwl:hasDbXref UMLS:C1415469 ; oboInOwl:hasExactSynonym "HAO2", "haox2", "hydroxyacid oxidase 2", "hydroxyacid oxidase, long-chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51179 ; - skos:exactMatch HGNC_symbol:HAO2 ; + skos:exactMatch UMLS:C1415469, + HGNC:4810, + HGNC_symbol:HAO2 ; biolink:category biolink:Gene . OMIM:605177 a owl:Class ; @@ -201325,26 +208124,28 @@ OMIM:605178 a owl:Class ; PMID:9790751 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:616726 ; - oboInOwl:hasDbXref UMLS:C1333661, - UMLS:C4225230 ; oboInOwl:hasExactSynonym "GAS8", "growth arrest-specific 11, formerly", "growth arrest-specific 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2622 ; - skos:exactMatch HGNC_symbol:GAS8 ; + skos:exactMatch UMLS:C1333661, + UMLS:C4225230, + HGNC:4166, + HGNC_symbol:GAS8 ; biolink:category biolink:Gene . OMIM:605179 a owl:Class ; rdfs:label "GAS8AS1" ; IAO:0000142 PMID:9790751 ; - oboInOwl:hasDbXref UMLS:C1412893 ; oboInOwl:hasExactSynonym "GAS8AS1", "chromosome 16 open reading frame 3", "gas8 antisense RNA 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:750 ; - skos:exactMatch HGNC_symbol:GAS8-AS1 ; + skos:exactMatch UMLS:C1412893, + HGNC:1197, + HGNC_symbol:GAS8-AS1 ; biolink:category biolink:Gene . OMIM:605180 a owl:Class ; @@ -201358,65 +208159,70 @@ OMIM:605180 a owl:Class ; PMID:17488712, PMID:18319257, PMID:22215663 ; - oboInOwl:hasDbXref UMLS:C1422000 ; oboInOwl:hasExactSynonym "SLC38A2", "amino acid transporter a2", "sodium-dependent neutral amino acid transporter 2", "solute carrier family 38 (amino acid transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54407 ; - skos:exactMatch HGNC_symbol:SLC38A2 ; + skos:exactMatch UMLS:C1422000, + HGNC:13448, + HGNC_symbol:SLC38A2 ; biolink:category biolink:Gene . OMIM:605181 a owl:Class ; rdfs:label "TM7SF3" ; IAO:0000142 PMID:10828615 ; - oboInOwl:hasDbXref UMLS:C1427874 ; oboInOwl:hasExactSynonym "TM7SF3", "transmembrane 7 superfamily, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51768 ; - skos:exactMatch HGNC_symbol:TM7SF3 ; + skos:exactMatch UMLS:C1427874, + HGNC:23049, + HGNC_symbol:TM7SF3 ; biolink:category biolink:Gene . OMIM:605182 a owl:Class ; rdfs:label "RASA3" ; IAO:0000142 PMID:7637787 ; - oboInOwl:hasDbXref UMLS:C1426866 ; oboInOwl:hasExactSynonym "RASA3", "gap1(ip4bp)", "gtpase-activating protein 1 family, inositol 1,3,4,5-tetrakisphosphate-binding protein", "ras p21 protein activator 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22821 ; - skos:exactMatch HGNC_symbol:RASA3 ; + skos:exactMatch UMLS:C1426866, + HGNC:20331, + HGNC_symbol:RASA3 ; biolink:category biolink:Gene . OMIM:605183 a owl:Class ; rdfs:label "CALML5" ; IAO:0000142 PMID:10777582, PMID:12970338 ; - oboInOwl:hasDbXref UMLS:C1425365 ; oboInOwl:hasExactSynonym "CALML5", "calmodulin-like 5", "calmodulin-like skin protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51806 ; - skos:exactMatch HGNC_symbol:CALML5 ; + skos:exactMatch UMLS:C1425365, + HGNC:18180, + HGNC_symbol:CALML5 ; biolink:category biolink:Gene . OMIM:605184 a owl:Class ; rdfs:label "PAIP1" ; IAO:0000142 PMID:11051545, PMID:9548260 ; - oboInOwl:hasDbXref UMLS:C1424656 ; oboInOwl:hasExactSynonym "PAIP1", "pabp-interacting protein 1", "poly(a)-binding protein-interacting protein 1", "polyadenylate-binding protein-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10605 ; - skos:exactMatch HGNC_symbol:PAIP1 ; + skos:exactMatch UMLS:C1424656, + HGNC:16945, + HGNC_symbol:PAIP1 ; biolink:category biolink:Gene . OMIM:605185 a owl:Class ; @@ -201439,38 +208245,41 @@ OMIM:605185 a owl:Class ; PMID:30651639 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:616589 ; - oboInOwl:hasDbXref UMLS:C1414072, - UMLS:C4225271 ; oboInOwl:hasExactSynonym "DLL4", "delta-like 4", "delta-like canonical notch ligand 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54567 ; - skos:exactMatch HGNC_symbol:DLL4 ; + skos:exactMatch UMLS:C1414072, + UMLS:C4225271, + HGNC:2910, + HGNC_symbol:DLL4 ; biolink:category biolink:Gene . OMIM:605186 a owl:Class ; rdfs:label "WIF1" ; IAO:0000142 PMID:10201374, PMID:28383544 ; - oboInOwl:hasDbXref UMLS:C1425289 ; oboInOwl:hasExactSynonym "WIF1", "wnt inhibitory factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11197 ; - skos:exactMatch HGNC_symbol:WIF1 ; + skos:exactMatch UMLS:C1425289, + HGNC:18081, + HGNC_symbol:WIF1 ; biolink:category biolink:Gene . OMIM:605187 a owl:Class ; rdfs:label "GPR27" ; IAO:0000142 PMID:10833454 ; - oboInOwl:hasDbXref UMLS:C1415220 ; oboInOwl:hasExactSynonym "GPR27", "g protein-coupled receptor 27", "superconserved receptor expressed 1n brain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2850 ; - skos:exactMatch HGNC_symbol:GPR27 ; + skos:exactMatch UMLS:C1415220, + HGNC:4482, + HGNC_symbol:GPR27 ; biolink:category biolink:Gene . OMIM:605188 a owl:Class ; @@ -201479,13 +208288,14 @@ OMIM:605188 a owl:Class ; PMID:10978537, PMID:12408996, PMID:18413613 ; - oboInOwl:hasDbXref UMLS:C1415266 ; oboInOwl:hasExactSynonym "GPR85", "g protein-coupled receptor 85", "superconserved receptor expressed 1n brain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54329 ; - skos:exactMatch HGNC_symbol:GPR85 ; + skos:exactMatch UMLS:C1415266, + HGNC:4536, + HGNC_symbol:GPR85 ; biolink:category biolink:Gene . OMIM:605189 a owl:Class ; @@ -201506,24 +208316,26 @@ OMIM:605189 a owl:Class ; PMID:18505822, PMID:22358062, PMID:32238941 ; - oboInOwl:hasDbXref UMLS:C1414057 ; oboInOwl:hasExactSynonym "DKK1", "dickkopf wnt signaling pathway inhibitor 1", "dickkopf, xenopus, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22943 ; - skos:exactMatch HGNC_symbol:DKK1 ; + skos:exactMatch UMLS:C1414057, + HGNC:2891, + HGNC_symbol:DKK1 ; biolink:category biolink:Gene . OMIM:605190 a owl:Class ; rdfs:label "TRAM1" ; IAO:0000142 PMID:1315422 ; - oboInOwl:hasDbXref UMLS:C1427007 ; oboInOwl:hasExactSynonym "TRAM1", "translocation-associating membrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23471 ; - skos:exactMatch HGNC_symbol:TRAM1 ; + skos:exactMatch UMLS:C1427007, + HGNC:20568, + HGNC_symbol:TRAM1 ; biolink:category biolink:Gene . OMIM:605191 a owl:Class ; @@ -201531,7 +208343,6 @@ OMIM:605191 a owl:Class ; IAO:0000142 PMID:10642510, PMID:9342322, PMID:9488487 ; - oboInOwl:hasDbXref UMLS:C1332452 ; oboInOwl:hasExactSynonym "BTAF1", "btaf1 RNA polymerase ii, b-tfiid transcription factor-associated, 170-kd", "mot1, yeast, homolog of", @@ -201540,7 +208351,9 @@ OMIM:605191 a owl:Class ; "tata box-binding protein-associated factor, RNA polymerase ii, 170-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9044 ; - skos:exactMatch HGNC_symbol:BTAF1 ; + skos:exactMatch UMLS:C1332452, + HGNC:17307, + HGNC_symbol:BTAF1 ; biolink:category biolink:Gene . OMIM:605193 a owl:Class ; @@ -201550,14 +208363,15 @@ OMIM:605193 a owl:Class ; PMID:15546898, PMID:23871723, PMID:9874798 ; - oboInOwl:hasDbXref UMLS:C1539291 ; oboInOwl:hasExactSynonym "DIRAS3", "diras family, gtp-binding ras-like protein 3", "distinct subgroup of the ras family, member 3", "ras homolog gene family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9077 ; - skos:exactMatch HGNC_symbol:DIRAS3 ; + skos:exactMatch UMLS:C1539291, + HGNC:687, + HGNC_symbol:DIRAS3 ; biolink:category biolink:Gene . OMIM:605194 a owl:Class ; @@ -201570,14 +208384,15 @@ OMIM:605194 a owl:Class ; PMID:9053319 ; RO:0002525 CHR:9606chr2q21.1 ; RO:0003303 OMIM:605376 ; - oboInOwl:hasDbXref UMLS:C1332788 ; oboInOwl:hasExactSynonym "CFC1", "cryptic", "cryptic protein", "cryptic, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55997 ; - skos:exactMatch HGNC_symbol:CFC1 ; + skos:exactMatch UMLS:C1332788, + HGNC:18292, + HGNC_symbol:CFC1 ; biolink:category biolink:Gene . OMIM:605195 a owl:Class ; @@ -201591,27 +208406,29 @@ OMIM:605195 a owl:Class ; PMID:9242490 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:608681 ; - oboInOwl:hasDbXref UMLS:C1825969, - UMLS:C1837549 ; oboInOwl:hasExactSynonym "MESP2", "mesoderm posterior basic helix-loop-helix transcription factor 2", "mesoderm posterior protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145873 ; - skos:exactMatch HGNC_symbol:MESP2 ; + skos:exactMatch UMLS:C1825969, + UMLS:C1837549, + HGNC:29659, + HGNC_symbol:MESP2 ; biolink:category biolink:Gene . OMIM:605196 a owl:Class ; rdfs:label "COQ3" ; IAO:0000142 PMID:10777520 ; - oboInOwl:hasDbXref UMLS:C1425361 ; oboInOwl:hasExactSynonym "COQ3", "coenzyme q3, methyltransferase", "coq3, s. cerevisiae, homolog of", "methyltransferase coq3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51805 ; - skos:exactMatch HGNC_symbol:COQ3 ; + skos:exactMatch UMLS:C1425361, + HGNC:18175, + HGNC_symbol:COQ3 ; biolink:category biolink:Gene . OMIM:605197 a owl:Class ; @@ -201625,13 +208442,14 @@ OMIM:605197 a owl:Class ; PMID:9180257 ; RO:0002525 CHR:9606chr2q22.2 ; RO:0003303 OMIM:617661 ; - oboInOwl:hasDbXref UMLS:C1416768 ; oboInOwl:hasExactSynonym "KYNU", "kynureninase", "l-kynurenine hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8942 ; - skos:exactMatch HGNC_symbol:KYNU ; + skos:exactMatch UMLS:C1416768, + HGNC:6469, + HGNC_symbol:KYNU ; biolink:category biolink:Gene . OMIM:605198 a owl:Class ; @@ -201639,7 +208457,6 @@ OMIM:605198 a owl:Class ; IAO:0000142 PMID:10066793, PMID:10926539, PMID:30026317 ; - oboInOwl:hasDbXref UMLS:C1424494 ; oboInOwl:hasExactSynonym "TENT4A", "pap-associated domain-containing protein 7", "poly(a) polymerase-associated domain-containing protein 7", @@ -201649,7 +208466,9 @@ OMIM:605198 a owl:Class ; "trf4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11044 ; - skos:exactMatch HGNC_symbol:TENT4A ; + skos:exactMatch UMLS:C1424494, + HGNC:16705, + HGNC_symbol:TENT4A ; biolink:category biolink:Gene . OMIM:605199 a owl:Class ; @@ -201657,8 +208476,6 @@ OMIM:605199 a owl:Class ; IAO:0000142 PMID:21680841, PMID:8449401, PMID:9393982 ; - oboInOwl:hasDbXref UMLS:C1419984, - UMLS:C1854588 ; oboInOwl:hasExactSynonym "SFPQ", "polypyrimidine tract-binding protein-associated splicing factor", "ptb-associated splicing factor", @@ -201666,7 +208483,10 @@ OMIM:605199 a owl:Class ; "splicing factor, proline- and glutamine-rich" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6421 ; - skos:exactMatch HGNC_symbol:SFPQ ; + skos:exactMatch UMLS:C1419984, + UMLS:C1854588, + HGNC:10774, + HGNC_symbol:SFPQ ; biolink:category biolink:Gene . OMIM:605200 a owl:Class ; @@ -201674,12 +208494,13 @@ OMIM:605200 a owl:Class ; IAO:0000142 PMID:10516438, PMID:15676274, PMID:7584026 ; - oboInOwl:hasDbXref UMLS:C1415520 ; oboInOwl:hasExactSynonym "HERC3", "hect domain and rcc1-like domain 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8916 ; - skos:exactMatch HGNC_symbol:HERC3 ; + skos:exactMatch UMLS:C1415520, + HGNC:4876, + HGNC_symbol:HERC3 ; biolink:category biolink:Gene . OMIM:605202 a owl:Class ; @@ -201690,13 +208511,14 @@ OMIM:605202 a owl:Class ; PMID:8152878 ; RO:0002525 CHR:9606chr9q22.33 ; RO:0003303 OMIM:610442 ; - oboInOwl:hasDbXref UMLS:C1426104 ; oboInOwl:hasExactSynonym "NANS", "n-acetylneuraminic acid phosphate synthase", "sialic acid synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54187 ; - skos:exactMatch HGNC_symbol:NANS ; + skos:exactMatch UMLS:C1426104, + HGNC:19237, + HGNC_symbol:NANS ; biolink:category biolink:Gene . OMIM:605203 a owl:Class ; @@ -201750,18 +208572,19 @@ OMIM:605204 a owl:Class ; PMID:9288096, PMID:9585364 ; RO:0002525 CHR:9606chr9q34.11 ; - oboInOwl:hasDbXref UMLS:C1540039, - UMLS:C1851945, - UMLS:C4015968, - UMLS:C4016919, - UMLS:C4016920, - UMLS:C5436453 ; oboInOwl:hasExactSynonym "TOR1A", "dyt1 gene", "torsin 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1861 ; - skos:exactMatch HGNC_symbol:TOR1A ; + skos:exactMatch UMLS:C1540039, + UMLS:C1851945, + UMLS:C4015968, + UMLS:C4016919, + UMLS:C4016920, + UMLS:C5436453, + HGNC:3098, + HGNC_symbol:TOR1A ; biolink:category biolink:Gene . OMIM:605206 a owl:Class ; @@ -201783,12 +208606,13 @@ OMIM:605206 a owl:Class ; PMID:9634235 ; RO:0002525 CHR:9606chr15q24.1 ; RO:0003303 OMIM:619521 ; - oboInOwl:hasDbXref UMLS:C1424615 ; oboInOwl:hasExactSynonym "HCN4", "hyperpolarization-activated cyclic nucleotide-gated potassium channel 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10021 ; - skos:exactMatch HGNC_symbol:HCN4 ; + skos:exactMatch UMLS:C1424615, + HGNC:16882, + HGNC_symbol:HCN4 ; biolink:category biolink:Gene . OMIM:605207 a owl:Class ; @@ -201800,14 +208624,15 @@ OMIM:605207 a owl:Class ; PMID:23007396 ; RO:0002525 CHR:9606chr2p13.2 ; RO:0003303 OMIM:614416 ; - oboInOwl:hasDbXref UMLS:C1427015 ; oboInOwl:hasExactSynonym "CYP26B1", "cytochrome p450, subfamily xxvia, polypeptide 2", "cytochrome p450, subfamily xxvib, polypeptide 1", "p450, retinoic acid-inactivating, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56603 ; - skos:exactMatch HGNC_symbol:CYP26B1 ; + skos:exactMatch UMLS:C1427015, + HGNC:20581, + HGNC_symbol:CYP26B1 ; biolink:category biolink:Gene . OMIM:605208 a owl:Class ; @@ -201819,7 +208644,6 @@ OMIM:605208 a owl:Class ; PMID:15103023, PMID:15118123, PMID:8632143 ; - oboInOwl:hasDbXref UMLS:C1424493 ; oboInOwl:hasExactSynonym "SLC17A7", "brain sodium-dependent inorganic phosphate cotransporter", "sodium-dependent inorganic phosphate cotransporter, brain", @@ -201828,7 +208652,9 @@ OMIM:605208 a owl:Class ; "vesicular glutamate transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57030 ; - skos:exactMatch HGNC_symbol:SLC17A7 ; + skos:exactMatch UMLS:C1424493, + HGNC:16704, + HGNC_symbol:SLC17A7 ; biolink:category biolink:Gene . OMIM:605209 a owl:Class ; @@ -201837,12 +208663,13 @@ OMIM:605209 a owl:Class ; PMID:12810945, PMID:15793587, PMID:18172500 ; - oboInOwl:hasDbXref UMLS:C1426948 ; oboInOwl:hasExactSynonym "CHFR", "checkpoint protein with fha and ring finger domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55743 ; - skos:exactMatch HGNC_symbol:CHFR ; + skos:exactMatch UMLS:C1426948, + HGNC:20455, + HGNC_symbol:CHFR ; biolink:category biolink:Gene . OMIM:605210 a owl:Class ; @@ -201887,12 +208714,13 @@ OMIM:605210 a owl:Class ; PMID:25132547 ; RO:0002525 CHR:9606chr1q42.2 ; RO:0003303 OMIM:604906 ; - oboInOwl:hasDbXref UMLS:C1414054 ; oboInOwl:hasExactSynonym "DISC1", "disrupted 1n schizophrenia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27185 ; - skos:exactMatch HGNC_symbol:DISC1 ; + skos:exactMatch UMLS:C1414054, + HGNC:2888, + HGNC_symbol:DISC1 ; biolink:category biolink:Gene . OMIM:605211 a owl:Class ; @@ -201901,24 +208729,26 @@ OMIM:605211 a owl:Class ; PMID:11807898, PMID:15487006, PMID:21602885 ; - oboInOwl:hasDbXref UMLS:C1412735 ; oboInOwl:hasExactSynonym "BARHL1", "barh-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56751 ; - skos:exactMatch HGNC_symbol:BARHL1 ; + skos:exactMatch UMLS:C1412735, + HGNC:953, + HGNC_symbol:BARHL1 ; biolink:category biolink:Gene . OMIM:605212 a owl:Class ; rdfs:label "BARHL2" ; IAO:0000142 PMID:10814725, PMID:9698441 ; - oboInOwl:hasDbXref UMLS:C1412736 ; oboInOwl:hasExactSynonym "BARHL2", "barh-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343472 ; - skos:exactMatch HGNC_symbol:BARHL2 ; + skos:exactMatch UMLS:C1412736, + HGNC:954, + HGNC_symbol:BARHL2 ; biolink:category biolink:Gene . OMIM:605213 a owl:Class ; @@ -201941,25 +208771,27 @@ OMIM:605213 a owl:Class ; PMID:9368760, PMID:9445476, PMID:9445477 ; - oboInOwl:hasDbXref UMLS:C1335204 ; oboInOwl:hasExactSynonym "3-phosphoinositide-dependent protein kinase 1", "PDPK1", "pdk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5170 ; - skos:exactMatch HGNC_symbol:PDPK1 ; + skos:exactMatch UMLS:C1335204, + HGNC:8816, + HGNC_symbol:PDPK1 ; biolink:category biolink:Gene . OMIM:605214 a owl:Class ; rdfs:label "KCNMB2" ; IAO:0000142 PMID:10097176, PMID:10766764 ; - oboInOwl:hasDbXref UMLS:C1416604 ; oboInOwl:hasExactSynonym "KCNMB2", "potassium channel, calcium-activated, large conductance, subfamily m, beta member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10242 ; - skos:exactMatch HGNC_symbol:KCNMB2 ; + skos:exactMatch UMLS:C1416604, + HGNC:6286, + HGNC_symbol:KCNMB2 ; biolink:category biolink:Gene . OMIM:605215 a owl:Class ; @@ -201967,13 +208799,14 @@ OMIM:605215 a owl:Class ; IAO:0000142 PMID:9671755, PMID:9755858, PMID:9837776 ; - oboInOwl:hasDbXref UMLS:C1822731 ; oboInOwl:hasExactSynonym "SKAP2", "skap55-related protein", "src kinase-associated phosphoprotein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8935 ; - skos:exactMatch HGNC_symbol:SKAP2 ; + skos:exactMatch UMLS:C1822731, + HGNC:15687, + HGNC_symbol:SKAP2 ; biolink:category biolink:Gene . OMIM:605216 a owl:Class ; @@ -201982,14 +208815,15 @@ OMIM:605216 a owl:Class ; PMID:10947987, PMID:12598901, PMID:17145773 ; - oboInOwl:hasDbXref UMLS:C1412530 ; oboInOwl:hasExactSynonym "ARHGEF4", "apc-stimulated guanine nucleotide exchange factor", "asef1", "rho guanine nucleotide exchange factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50649 ; - skos:exactMatch HGNC_symbol:ARHGEF4 ; + skos:exactMatch UMLS:C1412530, + HGNC:684, + HGNC_symbol:ARHGEF4 ; biolink:category biolink:Gene . OMIM:605217 a owl:Class ; @@ -201997,7 +208831,6 @@ OMIM:605217 a owl:Class ; IAO:0000142 PMID:21658278, PMID:7527937, PMID:9507002 ; - oboInOwl:hasDbXref UMLS:C1428905 ; oboInOwl:hasExactSynonym "SHC2", "shc adaptor homolog, neuronal", "shc protein B", @@ -202005,7 +208838,9 @@ OMIM:605217 a owl:Class ; "shc-like protein sck" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25759 ; - skos:exactMatch HGNC_symbol:SHC2 ; + skos:exactMatch UMLS:C1428905, + HGNC:29869, + HGNC_symbol:SHC2 ; biolink:category biolink:Gene . OMIM:605219 a owl:Class ; @@ -202022,25 +208857,27 @@ OMIM:605219 a owl:Class ; PMID:21722859 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:614152 ; - oboInOwl:hasDbXref UMLS:C1427590 ; oboInOwl:hasExactSynonym "DIABLO", "direct iap-binding protein with low pi", "second mitochondria-derived activator of caspase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56616 ; - skos:exactMatch HGNC_symbol:DIABLO ; + skos:exactMatch UMLS:C1427590, + HGNC:21528, + HGNC_symbol:DIABLO ; biolink:category biolink:Gene . OMIM:605220 a owl:Class ; rdfs:label "APOBR" ; IAO:0000142 PMID:10852956 ; - oboInOwl:hasDbXref UMLS:C1854576 ; oboInOwl:hasExactSynonym "APOBR", "apolipoprotein B receptor", "apolipoprotein b48 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55911 ; - skos:exactMatch HGNC_symbol:APOBR ; + skos:exactMatch UMLS:C1854576, + HGNC:24087, + HGNC_symbol:APOBR ; biolink:category biolink:Gene . OMIM:605221 a owl:Class ; @@ -202053,9 +208890,6 @@ OMIM:605221 a owl:Class ; PMID:14765198, PMID:20232416, PMID:9774382 ; - oboInOwl:hasDbXref UMLS:C1424499, - UMLS:C1854574, - UMLS:C1854575 ; oboInOwl:hasExactSynonym "SRSF10", "fus-interacting protein 1", "neural-salient sr-rich protein", @@ -202069,7 +208903,11 @@ OMIM:605221 a owl:Class ; "tls-associated protein with serine-arginine repeats, isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10772 ; - skos:exactMatch HGNC_symbol:SRSF10 ; + skos:exactMatch UMLS:C1424499, + UMLS:C1854574, + UMLS:C1854575, + HGNC:16713, + HGNC_symbol:SRSF10 ; biolink:category biolink:Gene . OMIM:605222 a owl:Class ; @@ -202078,24 +208916,26 @@ OMIM:605222 a owl:Class ; PMID:10692449, PMID:10766764, PMID:10828459 ; - oboInOwl:hasDbXref UMLS:C1416605 ; oboInOwl:hasExactSynonym "KCNMB3", "potassium channel, calcium-activated, large conductance, subfamily m, beta member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27094 ; - skos:exactMatch HGNC_symbol:KCNMB3 ; + skos:exactMatch UMLS:C1416605, + HGNC:6287, + HGNC_symbol:KCNMB3 ; biolink:category biolink:Gene . OMIM:605223 a owl:Class ; rdfs:label "KCNMB4" ; IAO:0000142 PMID:10692449, PMID:10828459 ; - oboInOwl:hasDbXref UMLS:C1416607 ; oboInOwl:hasExactSynonym "KCNMB4", "potassium channel, calcium-activated, large conductance, subfamily m, beta member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27345 ; - skos:exactMatch HGNC_symbol:KCNMB4 ; + skos:exactMatch UMLS:C1416607, + HGNC:6289, + HGNC_symbol:KCNMB4 ; biolink:category biolink:Gene . OMIM:605224 a owl:Class ; @@ -202103,14 +208943,15 @@ OMIM:605224 a owl:Class ; IAO:0000142 PMID:14985289, PMID:29109151, PMID:9275222 ; - oboInOwl:hasDbXref UMLS:C1419759 ; oboInOwl:hasExactSynonym "RRH", "peropsin", "rhodopsin homolog, retinal pigment epithelium-derived", "rhodopsin homolog, rpe-derived" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10692 ; - skos:exactMatch HGNC_symbol:RRH ; + skos:exactMatch UMLS:C1419759, + HGNC:10450, + HGNC_symbol:RRH ; biolink:category biolink:Gene . OMIM:605226 a owl:Class ; @@ -202124,7 +208965,6 @@ OMIM:605226 a owl:Class ; PMID:27087320 ; RO:0002525 CHR:9606chr1p36.23 ; RO:0003303 OMIM:616975 ; - oboInOwl:hasDbXref UMLS:C1419345 ; oboInOwl:hasExactSynonym "RERE", "arginine-glutamic acid dipeptide repeats", "arginine-glutamic acid repeats-encoding gene", @@ -202134,7 +208974,9 @@ OMIM:605226 a owl:Class ; "re repeats-encoding gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:473 ; - skos:exactMatch HGNC_symbol:RERE ; + skos:exactMatch UMLS:C1419345, + HGNC:9965, + HGNC_symbol:RERE ; biolink:category biolink:Gene . OMIM:605227 a owl:Class ; @@ -202142,25 +208984,27 @@ OMIM:605227 a owl:Class ; IAO:0000142 PMID:11747814, PMID:23329048, PMID:9789069 ; - oboInOwl:hasDbXref UMLS:C1420441 ; oboInOwl:hasExactSynonym "RECK", "reversion-inducing cysteine-rich protein with kazal motifs", "suppressor of tumorigenicity 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8434 ; - skos:exactMatch HGNC_symbol:RECK ; + skos:exactMatch UMLS:C1420441, + HGNC:11345, + HGNC_symbol:RECK ; biolink:category biolink:Gene . OMIM:605228 a owl:Class ; rdfs:label "CIR1" ; IAO:0000142 PMID:9874765 ; - oboInOwl:hasDbXref UMLS:C1854572 ; oboInOwl:hasExactSynonym "CIR1", "cbf1-interacting corepressor", "corepressor interacting with rbpj, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9541 ; - skos:exactMatch HGNC_symbol:CIR1 ; + skos:exactMatch UMLS:C1854572, + HGNC:24217, + HGNC_symbol:CIR1 ; biolink:category biolink:Gene . OMIM:605230 a owl:Class ; @@ -202186,13 +209030,14 @@ OMIM:605230 a owl:Class ; PMID:30046110, PMID:8016121, PMID:9748285 ; - oboInOwl:hasDbXref UMLS:C1420865 ; oboInOwl:hasExactSynonym "53bp1", "TP53BP1", "tumor protein p53-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7158 ; - skos:exactMatch HGNC_symbol:TP53BP1 ; + skos:exactMatch UMLS:C1420865, + HGNC:11999, + HGNC_symbol:TP53BP1 ; biolink:category biolink:Gene . OMIM:605231 a owl:Class ; @@ -202203,10 +209048,10 @@ OMIM:605231 a owl:Class ; PMID:19252258, PMID:20472660, PMID:25982971 ; - oboInOwl:hasDbXref UMLS:C1858054 ; oboInOwl:hasExactSynonym "BBS6", "bardet-biedl syndrome 6" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C1858054 ; biolink:category biolink:Disease . OMIM:605233 a owl:Class ; @@ -202214,9 +209059,9 @@ OMIM:605233 a owl:Class ; IAO:0000142 PMID:10807785, PMID:16720836, PMID:9108407 ; - oboInOwl:hasDbXref UMLS:C2931071 ; oboInOwl:hasExactSynonym "dald", "dianzani autoimmune lymphoproliferative disease" ; + skos:exactMatch UMLS:C2931071 ; biolink:category biolink:Disease . OMIM:605234 a owl:Class ; @@ -202226,7 +209071,6 @@ OMIM:605234 a owl:Class ; PMID:11163270, PMID:12214233, PMID:9515961 ; - oboInOwl:hasDbXref UMLS:C1422056 ; oboInOwl:hasExactSynonym "VN1R1", "v1r-like 1", "v3r-related gene", @@ -202237,7 +209081,9 @@ OMIM:605234 a owl:Class ; "zvnr1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57191 ; - skos:exactMatch HGNC_symbol:VN1R1 ; + skos:exactMatch UMLS:C1422056, + HGNC:13548, + HGNC_symbol:VN1R1 ; biolink:category biolink:Gene . OMIM:605235 a owl:Class ; @@ -202252,8 +209098,6 @@ OMIM:605235 a owl:Class ; PMID:9560245 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:614937 ; - oboInOwl:hasDbXref UMLS:C1417756, - UMLS:C1854562 ; oboInOwl:hasExactSynonym "NOL3", "apoptosis repressor with card domain", "muscle-enriched cytosolic protein", @@ -202262,7 +209106,10 @@ OMIM:605235 a owl:Class ; "nucleolar protein, 30-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8996 ; - skos:exactMatch HGNC_symbol:NOL3 ; + skos:exactMatch UMLS:C1417756, + UMLS:C1854562, + HGNC:7869, + HGNC_symbol:NOL3 ; biolink:category biolink:Gene . OMIM:605236 a owl:Class ; @@ -202279,7 +209126,6 @@ OMIM:605236 a owl:Class ; PMID:24828501 ; RO:0002525 CHR:9606chr4p12 ; RO:0003303 OMIM:614595 ; - oboInOwl:hasDbXref UMLS:C1539125 ; oboInOwl:hasExactSynonym "CORIN", "atc2", "corin, serine peptidase", @@ -202288,7 +209134,9 @@ OMIM:605236 a owl:Class ; "transmembrane protease, serine 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10699 ; - skos:exactMatch HGNC_symbol:CORIN ; + skos:exactMatch UMLS:C1539125, + HGNC:19012, + HGNC_symbol:CORIN ; biolink:category biolink:Gene . OMIM:605237 a owl:Class ; @@ -202301,14 +209149,15 @@ OMIM:605237 a owl:Class ; PMID:9990033 ; RO:0002525 CHR:9606chr1q25.3 ; RO:0003303 OMIM:616413 ; - oboInOwl:hasDbXref UMLS:C1421546 ; oboInOwl:hasExactSynonym "XPR1", "syg1, yeast, homolog of", "x receptor", "xenotropic and polytropic retrovirus receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9213 ; - skos:exactMatch HGNC_symbol:XPR1 ; + skos:exactMatch UMLS:C1421546, + HGNC:12827, + HGNC_symbol:XPR1 ; biolink:category biolink:Gene . OMIM:605238 a owl:Class ; @@ -202326,12 +209175,13 @@ OMIM:605238 a owl:Class ; PMID:9547362 ; RO:0002525 CHR:9606chr2q22.1 ; RO:0003303 OMIM:600807 ; - oboInOwl:hasDbXref UMLS:C1415632 ; oboInOwl:hasExactSynonym "HNMT", "histamine n-methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3176 ; - skos:exactMatch HGNC_symbol:HNMT ; + skos:exactMatch UMLS:C1415632, + HGNC:5028, + HGNC_symbol:HNMT ; biolink:category biolink:Gene . OMIM:605239 a owl:Class ; @@ -202346,10 +209196,6 @@ OMIM:605239 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:602722 ; - oboInOwl:hasDbXref UMLS:C1412686, - UMLS:C5399980, - UMLS:C5436959, - UMLS:C5436960 ; oboInOwl:hasExactSynonym "ATP6V0A4", "atp6n2", "atpase, h+ transporting, lysosomal, noncatalytic accessory protein 1b", @@ -202357,7 +209203,12 @@ OMIM:605239 a owl:Class ; "vacuolar protein pump, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50617 ; - skos:exactMatch HGNC_symbol:ATP6V0A4 ; + skos:exactMatch UMLS:C1412686, + UMLS:C5399980, + UMLS:C5436959, + UMLS:C5436960, + HGNC:866, + HGNC_symbol:ATP6V0A4 ; biolink:category biolink:Gene . OMIM:605240 a owl:Class ; @@ -202365,24 +209216,26 @@ OMIM:605240 a owl:Class ; IAO:0000142 PMID:10781587, PMID:15381732, PMID:21753853 ; - oboInOwl:hasDbXref UMLS:C1425042 ; oboInOwl:hasExactSynonym "CCL28", "chemokine, cc motif, ligand 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56477 ; - skos:exactMatch HGNC_symbol:CCL28 ; + skos:exactMatch UMLS:C1425042, + HGNC:17700, + HGNC_symbol:CCL28 ; biolink:category biolink:Gene . OMIM:605241 a owl:Class ; rdfs:label "LY86" ; IAO:0000142 PMID:9763566 ; - oboInOwl:hasDbXref UMLS:C1424584 ; oboInOwl:hasExactSynonym "LY86", "lymphocyte antigen 86", "md1 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9450 ; - skos:exactMatch HGNC_symbol:LY86 ; + skos:exactMatch UMLS:C1424584, + HGNC:16837, + HGNC_symbol:LY86 ; biolink:category biolink:Gene . OMIM:605242 a owl:Class ; @@ -202413,10 +209266,6 @@ OMIM:605242 a owl:Class ; PMID:9760205 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:276904 ; - oboInOwl:hasDbXref UMLS:C1421379, - UMLS:C1848604, - UMLS:C1865870, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "USH1C", "harmonin", "pdz domain-containing protein, 73-kd", @@ -202424,7 +209273,12 @@ OMIM:605242 a owl:Class ; "ush1c gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10083 ; - skos:exactMatch HGNC_symbol:USH1C ; + skos:exactMatch UMLS:C1421379, + UMLS:C1848604, + UMLS:C1865870, + UMLS:C4015968, + HGNC:12597, + HGNC_symbol:USH1C ; biolink:category biolink:Gene . OMIM:605243 a owl:Class ; @@ -202435,13 +209289,14 @@ OMIM:605243 a owl:Class ; PMID:19060881, PMID:19252480, PMID:20435923 ; - oboInOwl:hasDbXref UMLS:C1424783 ; oboInOwl:hasExactSynonym "LY96", "lymphocyte antigen 96", "md2 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23643 ; - skos:exactMatch HGNC_symbol:LY96 ; + skos:exactMatch UMLS:C1424783, + HGNC:17156, + HGNC_symbol:LY96 ; biolink:category biolink:Gene . OMIM:605245 a owl:Class ; @@ -202449,14 +209304,15 @@ OMIM:605245 a owl:Class ; IAO:0000142 PMID:10671487, PMID:10821868, PMID:10860996 ; - oboInOwl:hasDbXref UMLS:C1422207 ; oboInOwl:hasExactSynonym "SLC2A8", "glucose transporter 8", "glucose transporter x1", "solute carrier family 2 (facilitated glucose transporter), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29988 ; - skos:exactMatch HGNC_symbol:SLC2A8 ; + skos:exactMatch UMLS:C1422207, + HGNC:13812, + HGNC_symbol:SLC2A8 ; biolink:category biolink:Gene . OMIM:605246 a owl:Class ; @@ -202467,27 +209323,29 @@ OMIM:605246 a owl:Class ; PMID:8605247, PMID:8702752, PMID:8765043 ; - oboInOwl:hasDbXref UMLS:C1412995 ; oboInOwl:hasExactSynonym "C3AR1", "c3ar", "complement component 3a receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:719 ; - skos:exactMatch HGNC_symbol:C3AR1 ; + skos:exactMatch UMLS:C1412995, + HGNC:1319, + HGNC_symbol:C3AR1 ; biolink:category biolink:Gene . OMIM:605247 a owl:Class ; rdfs:label "PIDD1" ; IAO:0000142 PMID:10825539, PMID:15073321 ; - oboInOwl:hasDbXref UMLS:C1424323 ; oboInOwl:hasExactSynonym "PIDD1", "leucine-rich repeats- and death domain-containing protein", "p53-induced death domain protein 1", "p53-induced protein with death domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55367 ; - skos:exactMatch HGNC_symbol:PIDD1 ; + skos:exactMatch UMLS:C1424323, + HGNC:16491, + HGNC_symbol:PIDD1 ; biolink:category biolink:Gene . OMIM:605248 a owl:Class ; @@ -202515,8 +209373,6 @@ OMIM:605248 a owl:Class ; PMID:9448310 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:252650 ; - oboInOwl:hasDbXref UMLS:C0238286, - UMLS:C1421947 ; oboInOwl:hasExactSynonym "MCOLN1", "ml4 gene", "mucolipidin", @@ -202524,7 +209380,10 @@ OMIM:605248 a owl:Class ; "transient receptor potential cation channel, mucolipin subfamily, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57192 ; - skos:exactMatch HGNC_symbol:MCOLN1 ; + skos:exactMatch UMLS:C0238286, + UMLS:C1421947, + HGNC:13356, + HGNC_symbol:MCOLN1 ; biolink:category biolink:Gene . OMIM:605249 a owl:Class ; @@ -202541,14 +209400,15 @@ OMIM:605250 a owl:Class ; PMID:8894702, PMID:9270026, PMID:9661885 ; - oboInOwl:hasDbXref UMLS:C1412079 ; oboInOwl:hasExactSynonym "ABCC4", "atp-binding cassette, subfamily c, member 4", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10257 ; - skos:exactMatch HGNC_symbol:ABCC4 ; + skos:exactMatch UMLS:C1412079, + HGNC:55, + HGNC_symbol:ABCC4 ; biolink:category biolink:Gene . OMIM:605251 a owl:Class ; @@ -202561,14 +209421,15 @@ OMIM:605251 a owl:Class ; PMID:9270026, PMID:9325169, PMID:9827529 ; - oboInOwl:hasDbXref UMLS:C1412080 ; oboInOwl:hasExactSynonym "ABCC5", "atp-binding cassette, subfamily c, member 5", "moatc", "multidrug resistance-associated protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10057 ; - skos:exactMatch HGNC_symbol:ABCC5 ; + skos:exactMatch UMLS:C1412080, + HGNC:56, + HGNC_symbol:ABCC5 ; biolink:category biolink:Gene . OMIM:605252 a owl:Class ; @@ -202579,13 +209440,14 @@ OMIM:605252 a owl:Class ; PMID:12410315, PMID:15254543, PMID:19251594 ; - oboInOwl:hasDbXref UMLS:C1418734 ; oboInOwl:hasExactSynonym "POLI", "polymerase, dna, iota", "rad30, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11201 ; - skos:exactMatch HGNC_symbol:POLI ; + skos:exactMatch UMLS:C1418734, + HGNC:9182, + HGNC_symbol:POLI ; biolink:category biolink:Gene . OMIM:605254 a owl:Class ; @@ -202611,20 +209473,20 @@ OMIM:605254 a owl:Class ; PMID:9931331 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:142690 ; - oboInOwl:hasDbXref UMLS:C1538050 ; oboInOwl:hasExactSynonym "NCSTN", "anterior pharynx defective 2, c. elegans, homolog of", "nicastrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23385 ; - skos:exactMatch HGNC_symbol:NCSTN ; + skos:exactMatch UMLS:C1538050, + HGNC:17091, + HGNC_symbol:NCSTN ; biolink:category biolink:Gene . OMIM:605255 a owl:Class ; rdfs:label "ETV7" ; IAO:0000142 PMID:10828014, PMID:11032031 ; - oboInOwl:hasDbXref UMLS:C1425353 ; oboInOwl:hasExactSynonym "ETV7", "ets transcription factor tel2", "ets variant gene 7", @@ -202632,7 +209494,9 @@ OMIM:605255 a owl:Class ; "telb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51513 ; - skos:exactMatch HGNC_symbol:ETV7 ; + skos:exactMatch UMLS:C1425353, + HGNC:18160, + HGNC_symbol:ETV7 ; biolink:category biolink:Gene . OMIM:605256 a owl:Class ; @@ -202647,13 +209511,14 @@ OMIM:605256 a owl:Class ; PMID:22036607, PMID:22681887, PMID:24013173 ; - oboInOwl:hasDbXref UMLS:C1425416 ; oboInOwl:hasExactSynonym "RAD18", "rad18 e3 ubiquitin protein ligase", "rad18, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56852 ; - skos:exactMatch HGNC_symbol:RAD18 ; + skos:exactMatch UMLS:C1425416, + HGNC:18278, + HGNC_symbol:RAD18 ; biolink:category biolink:Gene . OMIM:605257 a owl:Class ; @@ -202693,13 +209558,14 @@ OMIM:605257 a owl:Class ; PMID:26308889 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:605258 ; - oboInOwl:hasDbXref UMLS:C1421876 ; oboInOwl:hasExactSynonym "AICDA", "activation-induced cytidine deaminase", "aid" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57379 ; - skos:exactMatch HGNC_symbol:AICDA ; + skos:exactMatch UMLS:C1421876, + HGNC:13203, + HGNC_symbol:AICDA ; biolink:category biolink:Gene . OMIM:605260 a owl:Class ; @@ -202711,13 +209577,14 @@ OMIM:605261 a owl:Class ; IAO:0000142 PMID:10869423, PMID:11032835, PMID:14718399 ; - oboInOwl:hasDbXref UMLS:C1417771 ; oboInOwl:hasExactSynonym "NOX4", "nadph oxidase 4", "renal nadph oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50507 ; - skos:exactMatch HGNC_symbol:NOX4 ; + skos:exactMatch UMLS:C1417771, + HGNC:7891, + HGNC_symbol:NOX4 ; biolink:category biolink:Gene . OMIM:605262 a owl:Class ; @@ -202736,13 +209603,14 @@ OMIM:605262 a owl:Class ; PMID:9605764 ; RO:0002525 CHR:9606chr8q24.22 ; RO:0003303 OMIM:601455 ; - oboInOwl:hasDbXref UMLS:C1334873 ; oboInOwl:hasExactSynonym "NDRG1", "nmyc downstream-regulated gene 1", "protein regulated by oxygen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10397 ; - skos:exactMatch HGNC_symbol:NDRG1 ; + skos:exactMatch UMLS:C1334873, + HGNC:7679, + HGNC_symbol:NDRG1 ; biolink:category biolink:Gene . OMIM:605263 a owl:Class ; @@ -202750,7 +209618,6 @@ OMIM:605263 a owl:Class ; IAO:0000142 PMID:15494442, PMID:8808684, PMID:9507002 ; - oboInOwl:hasDbXref UMLS:C1335822 ; oboInOwl:hasExactSynonym "SHC3", "rai", "shc protein c", @@ -202758,7 +209625,9 @@ OMIM:605263 a owl:Class ; "shc-like protein, neuronal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53358 ; - skos:exactMatch HGNC_symbol:SHC3 ; + skos:exactMatch UMLS:C1335822, + HGNC:18181, + HGNC_symbol:SHC3 ; biolink:category biolink:Gene . OMIM:605264 a owl:Class ; @@ -202773,7 +209642,6 @@ OMIM:605264 a owl:Class ; PMID:17725684, PMID:7540611, PMID:9447983 ; - oboInOwl:hasDbXref UMLS:C1422760 ; oboInOwl:hasExactSynonym "SORBS1", "cbl-associated protein", "ponsin", @@ -202783,19 +209651,22 @@ OMIM:605264 a owl:Class ; "sorbin and sh3-domains containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10580 ; - skos:exactMatch HGNC_symbol:SORBS1 ; + skos:exactMatch UMLS:C1422760, + HGNC:14565, + HGNC_symbol:SORBS1 ; biolink:category biolink:Gene . OMIM:605265 a owl:Class ; rdfs:label "AVEN" ; IAO:0000142 PMID:10949025 ; - oboInOwl:hasDbXref UMLS:C1422030 ; oboInOwl:hasExactSynonym "AVEN", "apoptosis and caspase activation inhibitor", "cell death regulator aven" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57099 ; - skos:exactMatch HGNC_symbol:AVEN ; + skos:exactMatch UMLS:C1422030, + HGNC:13509, + HGNC_symbol:AVEN ; biolink:category biolink:Gene . OMIM:605266 a owl:Class ; @@ -202805,13 +209676,14 @@ OMIM:605266 a owl:Class ; PMID:25168384 ; RO:0002525 CHR:9606chr8q21.11 ; RO:0003303 OMIM:607831 ; - oboInOwl:hasDbXref UMLS:C1422482 ; oboInOwl:hasExactSynonym "JPH1", "jp1", "junctophilin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56704 ; - skos:exactMatch HGNC_symbol:JPH1 ; + skos:exactMatch UMLS:C1422482, + HGNC:14201, + HGNC_symbol:JPH1 ; biolink:category biolink:Gene . OMIM:605267 a owl:Class ; @@ -202823,13 +209695,14 @@ OMIM:605267 a owl:Class ; PMID:27532831 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:613873 ; - oboInOwl:hasDbXref UMLS:C1422483 ; oboInOwl:hasExactSynonym "JPH2", "jp2", "junctophilin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57158 ; - skos:exactMatch HGNC_symbol:JPH2 ; + skos:exactMatch UMLS:C1422483, + HGNC:14202, + HGNC_symbol:JPH2 ; biolink:category biolink:Gene . OMIM:605268 a owl:Class ; @@ -202843,26 +209716,28 @@ OMIM:605268 a owl:Class ; PMID:14557581 ; RO:0002525 CHR:9606chr16q24.2 ; RO:0003303 OMIM:606438 ; - oboInOwl:hasDbXref UMLS:C1422484 ; oboInOwl:hasExactSynonym "JPH3", "jp3", "junctophilin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57338 ; - skos:exactMatch HGNC_symbol:JPH3 ; + skos:exactMatch UMLS:C1422484, + HGNC:14203, + HGNC_symbol:JPH3 ; biolink:category biolink:Gene . OMIM:605269 a owl:Class ; rdfs:label "CORO1C" ; IAO:0000142 PMID:10828594, PMID:30220460 ; - oboInOwl:hasDbXref UMLS:C1413624 ; oboInOwl:hasExactSynonym "CORO1C", "coronin 1c", "coronin 3, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23603 ; - skos:exactMatch HGNC_symbol:CORO1C ; + skos:exactMatch UMLS:C1413624, + HGNC:2254, + HGNC_symbol:CORO1C ; biolink:category biolink:Gene . OMIM:605270 a owl:Class ; @@ -202889,14 +209764,15 @@ OMIM:605270 a owl:Class ; PMID:9744479 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:252900 ; - oboInOwl:hasDbXref UMLS:C1420015 ; oboInOwl:hasExactSynonym "SGSH", "heparan sulfate sulfatase", "n-sulfoglucosamine sulfohydrolase", "sulfamidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6448 ; - skos:exactMatch HGNC_symbol:SGSH ; + skos:exactMatch UMLS:C1420015, + HGNC:10818, + HGNC_symbol:SGSH ; biolink:category biolink:Gene . OMIM:605272 a owl:Class ; @@ -202907,25 +209783,27 @@ OMIM:605272 a owl:Class ; PMID:11352569, PMID:21771789, PMID:9251681 ; - oboInOwl:hasDbXref UMLS:C1422666 ; oboInOwl:hasExactSynonym "NDRG2", "kiaa1248", "nmyc downstream-regulated gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57447 ; - skos:exactMatch HGNC_symbol:NDRG2 ; + skos:exactMatch UMLS:C1422666, + HGNC:14460, + HGNC_symbol:NDRG2 ; biolink:category biolink:Gene . OMIM:605273 a owl:Class ; rdfs:label "NDRG3" ; IAO:0000142 PMID:10831399, PMID:11352569 ; - oboInOwl:hasDbXref UMLS:C1422668 ; oboInOwl:hasExactSynonym "NDRG3", "nmyc downstream-regulated gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57446 ; - skos:exactMatch HGNC_symbol:NDRG3 ; + skos:exactMatch UMLS:C1422668, + HGNC:14462, + HGNC_symbol:NDRG3 ; biolink:category biolink:Gene . OMIM:605274 a owl:Class ; @@ -202937,9 +209815,9 @@ OMIM:605274 a owl:Class ; PMID:24628666, PMID:25660031, PMID:26032025 ; - oboInOwl:hasDbXref UMLS:C1854470 ; oboInOwl:hasExactSynonym "mesomelic dysplasia with absent fibulas and triangular tibias", - "mesomelic dysplasia, savarirayan iia" . + "mesomelic dysplasia, savarirayan iia" ; + skos:exactMatch UMLS:C1854470 . OMIM:605275 a owl:Class ; rdfs:label "noonan syndrome 2" ; @@ -202948,11 +209826,11 @@ OMIM:605275 a owl:Class ; PMID:29469822, PMID:30368668, PMID:5782826 ; - oboInOwl:hasDbXref UMLS:C1854469 ; oboInOwl:hasExactSynonym "NS2", "noonan syndrome 2", "noonan syndrome, autosomal recessive" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C1854469 ; biolink:category biolink:Disease . OMIM:605276 a owl:Class ; @@ -202960,13 +209838,14 @@ OMIM:605276 a owl:Class ; IAO:0000142 PMID:10083745, PMID:9444961, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1412055 ; oboInOwl:hasExactSynonym "AATK", "aatyk", "apoptosis-associated tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9625 ; - skos:exactMatch HGNC_symbol:AATK ; + skos:exactMatch UMLS:C1412055, + HGNC:21, + HGNC_symbol:AATK ; biolink:category biolink:Gene . OMIM:605277 a owl:Class ; @@ -202974,14 +209853,15 @@ OMIM:605277 a owl:Class ; IAO:0000142 PMID:11054565, PMID:1894621, PMID:19242469 ; - oboInOwl:hasDbXref UMLS:C1415304 ; oboInOwl:hasExactSynonym "GRLF1", "glucocorticoid receptor dna-binding factor 1", "p190a, rat, homolog of", "p190rhogap" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2909 ; - skos:exactMatch HGNC_symbol:ARHGAP35 ; + skos:exactMatch UMLS:C1415304, + HGNC:4591, + HGNC_symbol:ARHGAP35 ; biolink:category biolink:Gene . OMIM:605278 a owl:Class ; @@ -202989,12 +209869,13 @@ OMIM:605278 a owl:Class ; IAO:0000142 PMID:15100172, PMID:9144407, PMID:9169443 ; - oboInOwl:hasDbXref UMLS:C1413348 ; oboInOwl:hasExactSynonym "CES2", "carboxylesterase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8824 ; - skos:exactMatch HGNC_symbol:CES2 ; + skos:exactMatch UMLS:C1413348, + HGNC:1864, + HGNC_symbol:CES2 ; biolink:category biolink:Gene . OMIM:605279 a owl:Class ; @@ -203002,14 +209883,15 @@ OMIM:605279 a owl:Class ; IAO:0000142 PMID:10518925, PMID:15100172, PMID:7916639 ; - oboInOwl:hasDbXref UMLS:C1413349 ; oboInOwl:hasExactSynonym "CES3", "carboxylesterase 3", "ces1d, mouse, homolog of", "es31, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23491 ; - skos:exactMatch HGNC_symbol:CES3 ; + skos:exactMatch UMLS:C1413349, + HGNC:1865, + HGNC_symbol:CES3 ; biolink:category biolink:Gene . OMIM:605281 a owl:Class ; @@ -203017,14 +209899,15 @@ OMIM:605281 a owl:Class ; IAO:0000142 PMID:10920202, PMID:16943775, PMID:9250878 ; - oboInOwl:hasDbXref UMLS:C1425720 ; oboInOwl:hasExactSynonym "DDX4", "dead-box helicase 4", "dead/h box 4", "vasa, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54514 ; - skos:exactMatch HGNC_symbol:DDX4 ; + skos:exactMatch UMLS:C1425720, + HGNC:18700, + HGNC_symbol:DDX4 ; biolink:category biolink:Gene . OMIM:605283 a owl:Class ; @@ -203046,14 +209929,15 @@ OMIM:605283 a owl:Class ; PMID:31397880 ; RO:0002525 CHR:9606chr15q11.2 ; RO:0003303 OMIM:615547 ; - oboInOwl:hasDbXref UMLS:C1416986, - UMLS:C3809877 ; oboInOwl:hasExactSynonym "MAGEL2", "mage-like 2", "necdin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54551 ; - skos:exactMatch HGNC_symbol:MAGEL2 ; + skos:exactMatch UMLS:C1416986, + UMLS:C3809877, + HGNC:6814, + HGNC_symbol:MAGEL2 ; biolink:category biolink:Gene . OMIM:605284 a owl:Class ; @@ -203128,18 +210012,19 @@ OMIM:605284 a owl:Class ; PMID:9924605 ; RO:0002525 CHR:9606chr9q34.13 ; RO:0003303 OMIM:191100 ; - oboInOwl:hasDbXref UMLS:C0694894, - UMLS:C0751674, - UMLS:C1854465, - UMLS:C4015968, - UMLS:C4479673 ; oboInOwl:hasExactSynonym "TSC1", "hamartin", "tsc complex subunit 1", "tsc1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7248 ; - skos:exactMatch HGNC_symbol:TSC1 ; + skos:exactMatch UMLS:C0694894, + UMLS:C0751674, + UMLS:C1854465, + UMLS:C4015968, + UMLS:C4479673, + HGNC:12362, + HGNC_symbol:TSC1 ; biolink:category biolink:Gene . OMIM:605285 a owl:Class ; @@ -203151,7 +210036,6 @@ OMIM:605285 a owl:Class ; PMID:17470135, PMID:19536174, PMID:22978647 ; - oboInOwl:hasDbXref UMLS:C1854449 ; oboInOwl:hasExactSynonym "HMSNR", "charcot-marie-tooth disease, iia 4g", "charcot-marie-tooth disease, autosomal recessive, iia 4g", @@ -203159,6 +210043,7 @@ OMIM:605285 a owl:Class ; "hereditary motor and sensory neuropathy, russe iia", "neuropathy, hereditary motor and sensory, russe iia" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1854449 ; biolink:category biolink:Disease . OMIM:605286 a owl:Class ; @@ -203183,26 +210068,28 @@ OMIM:605286 a owl:Class ; PMID:8640221 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:601283 ; - oboInOwl:hasDbXref UMLS:C1413110, - UMLS:C1854448, - UMLS:C5436961 ; oboInOwl:hasExactSynonym "CAPN10", "calpain 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11132 ; - skos:exactMatch HGNC_symbol:CAPN10 ; + skos:exactMatch UMLS:C1413110, + UMLS:C1854448, + UMLS:C5436961, + HGNC:1477, + HGNC_symbol:CAPN10 ; biolink:category biolink:Gene . OMIM:605287 a owl:Class ; rdfs:label "RNPEPL1" ; IAO:0000142 PMID:11017071 ; - oboInOwl:hasDbXref UMLS:C1419435 ; oboInOwl:hasExactSynonym "RNPEPL1", "aminopeptidase b-like", "arginyl aminopeptidase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57140 ; - skos:exactMatch HGNC_symbol:RNPEPL1 ; + skos:exactMatch UMLS:C1419435, + HGNC:10079, + HGNC_symbol:RNPEPL1 ; biolink:category biolink:Gene . OMIM:605288 a owl:Class ; @@ -203266,12 +210153,6 @@ OMIM:605290 a owl:Class ; PMID:9917792 ; RO:0002525 CHR:9606chr3q29 ; RO:0003303 OMIM:606657 ; - oboInOwl:hasDbXref UMLS:C0221061, - UMLS:C0338508, - UMLS:C1417953, - UMLS:C1847730, - UMLS:C3276549, - UMLS:C4225538 ; oboInOwl:hasExactSynonym "OPA1", "dynamin-like 120-kd protein, mitochondrial", "kiaa0567", @@ -203279,7 +210160,14 @@ OMIM:605290 a owl:Class ; "opa1 mitochondrial dynamin-like gtpase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4976 ; - skos:exactMatch HGNC_symbol:OPA1 ; + skos:exactMatch UMLS:C0221061, + UMLS:C0338508, + UMLS:C1417953, + UMLS:C1847730, + UMLS:C3276549, + UMLS:C4225538, + HGNC:8140, + HGNC_symbol:OPA1 ; biolink:category biolink:Gene . OMIM:605291 a owl:Class ; @@ -203289,13 +210177,14 @@ OMIM:605291 a owl:Class ; OMIM:605292 a owl:Class ; rdfs:label "NT5M" ; IAO:0000142 PMID:10899995 ; - oboInOwl:hasDbXref UMLS:C1423718 ; oboInOwl:hasExactSynonym "5-prime-nucleotidase, mitochondrial", "NT5M", "deoxyribonucleotidase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56953 ; - skos:exactMatch HGNC_symbol:NT5M ; + skos:exactMatch UMLS:C1423718, + HGNC:15769, + HGNC_symbol:NT5M ; biolink:category biolink:Gene . OMIM:605294 a owl:Class ; @@ -203308,14 +210197,15 @@ OMIM:605294 a owl:Class ; PMID:26604660 ; RO:0002525 CHR:9606chr16q23.1 ; RO:0003303 OMIM:217800 ; - oboInOwl:hasDbXref UMLS:C1417068 ; oboInOwl:hasExactSynonym "CHST6", "carbohydrate sulfotransferase 6", "corneal glcnac-6-sulfotransferase", "corneal n-acetylglucosamine-6-sulfotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4166 ; - skos:exactMatch HGNC_symbol:CHST6 ; + skos:exactMatch UMLS:C1417068, + HGNC:6938, + HGNC_symbol:CHST6 ; biolink:category biolink:Gene . OMIM:605295 a owl:Class ; @@ -203324,12 +210214,13 @@ OMIM:605295 a owl:Class ; PMID:14802993, PMID:9336829, PMID:9695811 ; - oboInOwl:hasDbXref UMLS:C1421922 ; oboInOwl:hasExactSynonym "FIGN", "fidgetin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55137 ; - skos:exactMatch HGNC_symbol:FIGN ; + skos:exactMatch UMLS:C1421922, + HGNC:13285, + HGNC_symbol:FIGN ; biolink:category biolink:Gene . OMIM:605296 a owl:Class ; @@ -203337,7 +210228,6 @@ OMIM:605296 a owl:Class ; IAO:0000142 PMID:10872820, PMID:16251969, PMID:9784380 ; - oboInOwl:hasDbXref UMLS:C1414163 ; oboInOwl:hasExactSynonym "PSMG1", "chromosome 21 leucine-rich protein", "down syndrome critical region gene 2", @@ -203345,14 +210235,15 @@ OMIM:605296 a owl:Class ; "proteasome assembly chaperone 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8624 ; - skos:exactMatch HGNC_symbol:PSMG1 ; + skos:exactMatch UMLS:C1414163, + HGNC:3043, + HGNC_symbol:PSMG1 ; biolink:category biolink:Gene . OMIM:605297 a owl:Class ; rdfs:label "NELFCD" ; IAO:0000142 PMID:11030415, PMID:12612062 ; - oboInOwl:hasDbXref UMLS:C1423842 ; oboInOwl:hasExactSynonym "NELFCD", "negative elongation factor complex, member c", "negative elongation factor complex, member c/d", @@ -203363,7 +210254,9 @@ OMIM:605297 a owl:Class ; "th1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51497 ; - skos:exactMatch HGNC_symbol:NELFCD ; + skos:exactMatch UMLS:C1423842, + HGNC:15934, + HGNC_symbol:NELFCD ; biolink:category biolink:Gene . OMIM:605298 a owl:Class ; @@ -203371,15 +210264,16 @@ OMIM:605298 a owl:Class ; IAO:0000142 PMID:28892079, PMID:31845315, PMID:9399594 ; - oboInOwl:hasDbXref UMLS:C1414164, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "VPS26C", "down syndrome critical region gene 3", "down syndrome critical region gene a", "vps26 endosomal protein-sorting factor c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10311 ; - skos:exactMatch HGNC_symbol:VPS26C ; + skos:exactMatch UMLS:C1414164, + UMLS:C2986382, + HGNC:3044, + HGNC_symbol:VPS26C ; biolink:category biolink:Gene . OMIM:605299 a owl:Class ; @@ -203399,7 +210293,6 @@ OMIM:605299 a owl:Class ; PMID:18263591, PMID:8724849, PMID:8758910 ; - oboInOwl:hasDbXref UMLS:C1367177 ; oboInOwl:hasExactSynonym "NCOA6", "activating signal cointegrator 2", "amplified 1n breast cancer 3", @@ -203411,7 +210304,9 @@ OMIM:605299 a owl:Class ; "thyroid hormone receptor-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23054 ; - skos:exactMatch HGNC_symbol:NCOA6 ; + skos:exactMatch UMLS:C1367177, + HGNC:15936, + HGNC_symbol:NCOA6 ; biolink:category biolink:Gene . OMIM:605300 a owl:Class ; @@ -203419,13 +210314,14 @@ OMIM:605300 a owl:Class ; IAO:0000142 PMID:11997497, PMID:9233773, PMID:9799793 ; - oboInOwl:hasDbXref UMLS:C1822704 ; oboInOwl:hasExactSynonym "SH2B2", "adaptor protein containing ph and sh2 domains", "sh2b adaptor protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10603 ; - skos:exactMatch HGNC_symbol:SH2B2 ; + skos:exactMatch UMLS:C1822704, + HGNC:17381, + HGNC_symbol:SH2B2 ; biolink:category biolink:Gene . OMIM:605301 a owl:Class ; @@ -203434,25 +210330,27 @@ OMIM:605301 a owl:Class ; PMID:11903063, PMID:17920017, PMID:22837387 ; - oboInOwl:hasDbXref UMLS:C1336556 ; oboInOwl:hasExactSynonym "TACC1", "tacc1/fgfr1 fusion gene", "transforming, acidic, coiled-coil-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6867 ; - skos:exactMatch HGNC_symbol:TACC1 ; + skos:exactMatch UMLS:C1336556, + HGNC:11522, + HGNC_symbol:TACC1 ; biolink:category biolink:Gene . OMIM:605302 a owl:Class ; rdfs:label "TACC2" ; IAO:0000142 PMID:10435627, PMID:15226440 ; - oboInOwl:hasDbXref UMLS:C1336557 ; oboInOwl:hasExactSynonym "TACC2", "transforming, acidic, coiled-coil-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10579 ; - skos:exactMatch HGNC_symbol:TACC2 ; + skos:exactMatch UMLS:C1336557, + HGNC:11523, + HGNC_symbol:TACC2 ; biolink:category biolink:Gene . OMIM:605303 a owl:Class ; @@ -203464,13 +210362,14 @@ OMIM:605303 a owl:Class ; PMID:17920017, PMID:22837387, PMID:29323298 ; - oboInOwl:hasDbXref UMLS:C1336558 ; oboInOwl:hasExactSynonym "TACC3", "tacc3/fgfr3 fusion gene", "transforming, acidic, coiled-coil-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10460 ; - skos:exactMatch HGNC_symbol:TACC3 ; + skos:exactMatch UMLS:C1336558, + HGNC:11524, + HGNC_symbol:TACC3 ; biolink:category biolink:Gene . OMIM:605304 a owl:Class ; @@ -203479,12 +210378,13 @@ OMIM:605304 a owl:Class ; PMID:11029004, PMID:17098866, PMID:18025470 ; - oboInOwl:hasDbXref UMLS:C1422393 ; oboInOwl:hasExactSynonym "NGB", "neuroglobin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58157 ; - skos:exactMatch HGNC_symbol:NGB ; + skos:exactMatch UMLS:C1422393, + HGNC:14077, + HGNC_symbol:NGB ; biolink:category biolink:Gene . OMIM:605305 a owl:Class ; @@ -203497,14 +210397,15 @@ OMIM:605305 a owl:Class ; PMID:17215859, PMID:17371997, PMID:18461314 ; - oboInOwl:hasDbXref UMLS:C1825709 ; oboInOwl:hasExactSynonym "KIR2DL5A", "cd158f", "killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5a", "kir2dl5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57292 ; - skos:exactMatch HGNC_symbol:KIR2DL5A ; + skos:exactMatch UMLS:C1825709, + HGNC:16345, + HGNC_symbol:KIR2DL5A ; biolink:category biolink:Gene . OMIM:605306 a owl:Class ; @@ -203512,7 +210413,6 @@ OMIM:605306 a owl:Class ; IAO:0000142 PMID:10438934, PMID:11178971, PMID:18541725 ; - oboInOwl:hasDbXref UMLS:C1539093 ; oboInOwl:hasExactSynonym "CLEC4A", "c-type lectin domain family 4, member a", "dendritic cell immunoreceptor", @@ -203520,32 +210420,36 @@ OMIM:605306 a owl:Class ; "lectin-like immunoreceptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50856 ; - skos:exactMatch HGNC_symbol:CLEC4A ; + skos:exactMatch UMLS:C1539093, + HGNC:13257, + HGNC_symbol:CLEC4A ; biolink:category biolink:Gene . OMIM:605307 a owl:Class ; rdfs:label "ADMR" ; IAO:0000142 PMID:9367907 ; - oboInOwl:hasDbXref UMLS:C1422155 ; oboInOwl:hasExactSynonym "ADMR", "adrenomedullin receptor", "amr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11318 ; - skos:exactMatch HGNC_symbol:GPR182 ; + skos:exactMatch UMLS:C1422155, + HGNC:13708, + HGNC_symbol:GPR182 ; biolink:category biolink:Gene . OMIM:605308 a owl:Class ; rdfs:label "ZNF346" ; IAO:0000142 PMID:10488071 ; - oboInOwl:hasDbXref UMLS:C1538184 ; oboInOwl:hasExactSynonym "ZNF346", "double-stranded rna-binding zinc finger protein", "just another zinc finger protein", "zinc finger protein 346" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23567 ; - skos:exactMatch HGNC_symbol:ZNF346 ; + skos:exactMatch UMLS:C1538184, + HGNC:16403, + HGNC_symbol:ZNF346 ; biolink:category biolink:Gene . OMIM:605309 a owl:Class ; @@ -203562,8 +210466,8 @@ OMIM:605309 a owl:Class ; PMID:26180201, PMID:27426521, PMID:9193390 ; - oboInOwl:hasDbXref UMLS:C1854416 ; oboInOwl:hasExactSynonym "macrocephaly/autism syndrome" ; + skos:exactMatch UMLS:C1854416 ; biolink:category biolink:Disease . OMIM:605310 a owl:Class ; @@ -203575,14 +210479,15 @@ OMIM:605310 a owl:Class ; PMID:15190014, PMID:18174193, PMID:9689108 ; - oboInOwl:hasDbXref UMLS:C1539075 ; oboInOwl:hasExactSynonym "CCHCR1", "alpha-helix coiled-coil rod homolog", "c6orf18", "coiled-coil alpha-helical rod protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54535 ; - skos:exactMatch HGNC_symbol:CCHCR1 ; + skos:exactMatch UMLS:C1539075, + HGNC:13930, + HGNC_symbol:CCHCR1 ; biolink:category biolink:Gene . OMIM:605311 a owl:Class ; @@ -203609,7 +210514,6 @@ OMIM:605312 a owl:Class ; PMID:9348093, PMID:9375789, PMID:9593718 ; - oboInOwl:hasDbXref UMLS:C1335222 ; oboInOwl:hasExactSynonym "GDF15", "bone morphogenetic protein, placenta", "growth/differentiation factor 15", @@ -203617,7 +210521,9 @@ OMIM:605312 a owl:Class ; "prostate-derived factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9518 ; - skos:exactMatch HGNC_symbol:GDF15 ; + skos:exactMatch UMLS:C1335222, + HGNC:30142, + HGNC_symbol:GDF15 ; biolink:category biolink:Gene . OMIM:605314 a owl:Class ; @@ -203641,14 +210547,15 @@ OMIM:605314 a owl:Class ; PMID:9150131 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:619797 ; - oboInOwl:hasDbXref UMLS:C1333893, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "HDAC4", "hdaca", "histone deacetylase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9759 ; - skos:exactMatch HGNC_symbol:HDAC4 ; + skos:exactMatch UMLS:C1333893, + UMLS:C4015968, + HGNC:14063, + HGNC_symbol:HDAC4 ; biolink:category biolink:Gene . OMIM:605315 a owl:Class ; @@ -203659,12 +210566,13 @@ OMIM:605315 a owl:Class ; PMID:17786239, PMID:9610721, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1333894 ; oboInOwl:hasExactSynonym "HDAC5", "histone deacetylase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10014 ; - skos:exactMatch HGNC_symbol:HDAC5 ; + skos:exactMatch UMLS:C1333894, + HGNC:14068, + HGNC_symbol:HDAC5 ; biolink:category biolink:Gene . OMIM:605316 a owl:Class ; @@ -203683,14 +210591,15 @@ OMIM:605319 a owl:Class ; PMID:8830046, PMID:9146922, PMID:9276680 ; - oboInOwl:hasDbXref UMLS:C1418489 ; oboInOwl:hasExactSynonym "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3", "PFKFB3", "pfk2, inducible", "pfkfb, placental" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5209 ; - skos:exactMatch HGNC_symbol:PFKFB3 ; + skos:exactMatch UMLS:C1418489, + HGNC:8874, + HGNC_symbol:PFKFB3 ; biolink:category biolink:Gene . OMIM:605320 a owl:Class ; @@ -203698,21 +210607,22 @@ OMIM:605320 a owl:Class ; IAO:0000142 PMID:10095107, PMID:29615789, PMID:8830046 ; - oboInOwl:hasDbXref UMLS:C1418490 ; oboInOwl:hasExactSynonym "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4", "PFKFB4", "pfkfb, testis" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5210 ; - skos:exactMatch HGNC_symbol:PFKFB4 ; + skos:exactMatch UMLS:C1418490, + HGNC:8875, + HGNC_symbol:PFKFB4 ; biolink:category biolink:Gene . OMIM:605321 a owl:Class ; rdfs:label "frontoocular syndrome" ; IAO:0000142 PMID:10869108, PMID:15151511 ; - oboInOwl:hasDbXref UMLS:C1854405 ; - oboInOwl:hasExactSynonym "frontoocular syndrome" . + oboInOwl:hasExactSynonym "frontoocular syndrome" ; + skos:exactMatch UMLS:C1854405 . OMIM:605322 a owl:Class ; rdfs:label "WFDC1" ; @@ -203722,13 +210632,14 @@ OMIM:605322 a owl:Class ; PMID:3567912, PMID:7665628, PMID:9468514 ; - oboInOwl:hasDbXref UMLS:C1336986 ; oboInOwl:hasExactSynonym "WFDC1", "prostate stromal protein, 20-kd, rat, homolog of", "wap 4-disulfide core domain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58189 ; - skos:exactMatch HGNC_symbol:WFDC1 ; + skos:exactMatch UMLS:C1336986, + HGNC:15466, + HGNC_symbol:WFDC1 ; biolink:category biolink:Gene . OMIM:605323 a owl:Class ; @@ -203737,7 +210648,6 @@ OMIM:605323 a owl:Class ; PMID:12721286, PMID:15681389, PMID:18066065 ; - oboInOwl:hasDbXref UMLS:C1427646 ; oboInOwl:hasExactSynonym "CTDSP1", "c-terminal domain of RNA polymerase 2 polypeptide a, small phosphatase of, 1", "ctd small phosphatase 1", @@ -203745,7 +210655,9 @@ OMIM:605323 a owl:Class ; "small ctd phosphatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58190 ; - skos:exactMatch HGNC_symbol:CTDSP1 ; + skos:exactMatch UMLS:C1427646, + HGNC:21614, + HGNC_symbol:CTDSP1 ; biolink:category biolink:Gene . OMIM:605324 a owl:Class ; @@ -203753,13 +210665,14 @@ OMIM:605324 a owl:Class ; IAO:0000142 PMID:12021784, PMID:9039502, PMID:9843960 ; - oboInOwl:hasDbXref UMLS:C1332104 ; oboInOwl:hasExactSynonym "APPBP2", "amyloid beta precursor protein-binding protein 2", "protein interacting with app tail 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10513 ; - skos:exactMatch HGNC_symbol:APPBP2 ; + skos:exactMatch UMLS:C1332104, + HGNC:622, + HGNC_symbol:APPBP2 ; biolink:category biolink:Gene . OMIM:605325 a owl:Class ; @@ -203778,13 +210691,14 @@ OMIM:605325 a owl:Class ; PMID:7811260 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1413882 ; oboInOwl:hasExactSynonym "CYP3A5", "cytochrome p450, subfamily iiia, polypeptide 5", "p450pcn3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1577 ; - skos:exactMatch HGNC_symbol:CYP3A5 ; + skos:exactMatch UMLS:C1413882, + HGNC:2638, + HGNC_symbol:CYP3A5 ; biolink:category biolink:Gene . OMIM:605326 a owl:Class ; @@ -203793,7 +210707,6 @@ OMIM:605326 a owl:Class ; PMID:10920205, PMID:20185725, PMID:9733879 ; - oboInOwl:hasDbXref UMLS:C1420591 ; oboInOwl:hasExactSynonym "TAX1BP1", "human t-cell leukemia virus iia 1-binding protein", "tax1-binding protein 1", @@ -203801,7 +210714,9 @@ OMIM:605326 a owl:Class ; "txbp151" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8887 ; - skos:exactMatch HGNC_symbol:TAX1BP1 ; + skos:exactMatch UMLS:C1420591, + HGNC:11575, + HGNC_symbol:TAX1BP1 ; biolink:category biolink:Gene . OMIM:605327 a owl:Class ; @@ -203816,14 +210731,15 @@ OMIM:605327 a owl:Class ; PMID:7565758, PMID:9122243, PMID:9722951 ; - oboInOwl:hasDbXref UMLS:C1417706 ; oboInOwl:hasExactSynonym "NFIL3", "e4bp4", "nfil3a", "nuclear factor, interleukin 3-regulated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4783 ; - skos:exactMatch HGNC_symbol:NFIL3 ; + skos:exactMatch UMLS:C1417706, + HGNC:7787, + HGNC_symbol:NFIL3 ; biolink:category biolink:Gene . OMIM:605328 a owl:Class ; @@ -203832,14 +210748,15 @@ OMIM:605328 a owl:Class ; PMID:10828046, PMID:11087666, PMID:15820306 ; - oboInOwl:hasDbXref UMLS:C1422139 ; oboInOwl:hasExactSynonym "KLF13", "fklf2", "kruppel-like factor 13", "rantes factor of late-activated t lymphocytes 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51621 ; - skos:exactMatch HGNC_symbol:KLF13 ; + skos:exactMatch UMLS:C1422139, + HGNC:13672, + HGNC_symbol:KLF13 ; biolink:category biolink:Gene . OMIM:605329 a owl:Class ; @@ -203874,13 +210791,14 @@ OMIM:605330 a owl:Class ; PMID:29465767, PMID:30700914, PMID:32050257 ; - oboInOwl:hasDbXref UMLS:C1423038 ; oboInOwl:hasExactSynonym "IL22", "interleukin 10-related t cell-derived inducible factor", "interleukin 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50616 ; - skos:exactMatch HGNC_symbol:IL22 ; + skos:exactMatch UMLS:C1423038, + HGNC:14900, + HGNC_symbol:IL22 ; biolink:category biolink:Gene . OMIM:605331 a owl:Class ; @@ -203888,25 +210806,27 @@ OMIM:605331 a owl:Class ; IAO:0000142 PMID:10888600, PMID:16242908, PMID:9892180 ; - oboInOwl:hasDbXref UMLS:C1414425 ; oboInOwl:hasExactSynonym "EPB41L3", "differentially expressed 1n adenocarcinoma of the lung", "erythrocyte membrane protein band 4.1-like 3", "nonerythroid protein 4.1, brain iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23136 ; - skos:exactMatch HGNC_symbol:EPB41L3 ; + skos:exactMatch UMLS:C1414425, + HGNC:3380, + HGNC_symbol:EPB41L3 ; biolink:category biolink:Gene . OMIM:605332 a owl:Class ; rdfs:label "KLHL1" ; IAO:0000142 PMID:10888605 ; - oboInOwl:hasDbXref UMLS:C1416664 ; oboInOwl:hasExactSynonym "KLHL1", "kelch-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57626 ; - skos:exactMatch HGNC_symbol:KLHL1 ; + skos:exactMatch UMLS:C1416664, + HGNC:6352, + HGNC_symbol:KLHL1 ; biolink:category biolink:Gene . OMIM:605333 a owl:Class ; @@ -203914,7 +210834,6 @@ OMIM:605333 a owl:Class ; IAO:0000142 PMID:10215036, PMID:10963680, PMID:11452363 ; - oboInOwl:hasDbXref UMLS:C1332105 ; oboInOwl:hasExactSynonym "PDS5B", "androgen-induced prostate proliferative shutoff-associated protein", "aprin", @@ -203923,7 +210842,9 @@ OMIM:605333 a owl:Class ; "pds5, regulator of cohesion maintenance, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23047 ; - skos:exactMatch HGNC_symbol:PDS5B ; + skos:exactMatch UMLS:C1332105, + HGNC:20418, + HGNC_symbol:PDS5B ; biolink:category biolink:Gene . OMIM:605334 a owl:Class ; @@ -203935,13 +210856,14 @@ OMIM:605335 a owl:Class ; IAO:0000142 PMID:10894922, PMID:12738777, PMID:9417904 ; - oboInOwl:hasDbXref UMLS:C1418540 ; oboInOwl:hasExactSynonym "PHLDA1", "pleckstrin homology-like domain, family a, member 1", "t cell death-associated gene 51" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22822 ; - skos:exactMatch HGNC_symbol:PHLDA1 ; + skos:exactMatch UMLS:C1418540, + HGNC:8933, + HGNC_symbol:PHLDA1 ; biolink:category biolink:Gene . OMIM:605336 a owl:Class ; @@ -203957,7 +210879,6 @@ OMIM:605336 a owl:Class ; PMID:8428964 ; RO:0002525 CHR:9606chr1q31.3 ; RO:0003303 OMIM:603075 ; - oboInOwl:hasDbXref UMLS:C1538444 ; oboInOwl:hasExactSynonym "CFHR3", "cfhl3", "complement factor h-related 3", @@ -203965,7 +210886,9 @@ OMIM:605336 a owl:Class ; "h factor-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10878 ; - skos:exactMatch HGNC_symbol:CFHR3 ; + skos:exactMatch UMLS:C1538444, + HGNC:16980, + HGNC_symbol:CFHR3 ; biolink:category biolink:Gene . OMIM:605337 a owl:Class ; @@ -203975,7 +210898,6 @@ OMIM:605337 a owl:Class ; PMID:12041828, PMID:15562282, PMID:9038172 ; - oboInOwl:hasDbXref UMLS:C1538445 ; oboInOwl:hasExactSynonym "CFHR4", "cfhl4", "complement factor h-related 4", @@ -203984,21 +210906,24 @@ OMIM:605337 a owl:Class ; "fhr-4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10877 ; - skos:exactMatch HGNC_symbol:CFHR4 ; + skos:exactMatch UMLS:C1538445, + HGNC:16979, + HGNC_symbol:CFHR4 ; biolink:category biolink:Gene . OMIM:605338 a owl:Class ; rdfs:label "INA" ; IAO:0000142 PMID:7769995, PMID:9435256 ; - oboInOwl:hasDbXref UMLS:C1416431 ; oboInOwl:hasExactSynonym "INA", "internexin, alpha", "neurofilament protein 5", "neurofilament, 66-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9118 ; - skos:exactMatch HGNC_symbol:INA ; + skos:exactMatch UMLS:C1416431, + HGNC:6057, + HGNC_symbol:INA ; biolink:category biolink:Gene . OMIM:605339 a owl:Class ; @@ -204012,14 +210937,15 @@ OMIM:605339 a owl:Class ; PMID:7489725, PMID:8668200, PMID:9259278 ; - oboInOwl:hasDbXref UMLS:C1414873 ; oboInOwl:hasExactSynonym "FXR2", "fmr1 autosomal homolog 2", "fragile 10 mental retardation, autosomal homolog 2", "fragile x-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9513 ; - skos:exactMatch HGNC_symbol:FXR2 ; + skos:exactMatch UMLS:C1414873, + HGNC:4024, + HGNC_symbol:FXR2 ; biolink:category biolink:Gene . OMIM:605340 a owl:Class ; @@ -204033,12 +210959,13 @@ OMIM:605340 a owl:Class ; PMID:2350547, PMID:2722762, PMID:8349787 ; - oboInOwl:hasDbXref UMLS:C1413884 ; oboInOwl:hasExactSynonym "CYP3A7", "cytochrome p450, subfamily iiia, polypeptide 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1551 ; - skos:exactMatch HGNC_symbol:CYP3A7 ; + skos:exactMatch UMLS:C1413884, + HGNC:2640, + HGNC_symbol:CYP3A7 ; biolink:category biolink:Gene . OMIM:605341 a owl:Class ; @@ -204047,24 +210974,26 @@ OMIM:605341 a owl:Class ; PMID:10903717, PMID:18358807, PMID:21241660 ; - oboInOwl:hasDbXref UMLS:C1426911 ; oboInOwl:hasExactSynonym "PILRA", "paired immunoglobulin-like iia 2 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29992 ; - skos:exactMatch HGNC_symbol:PILRA ; + skos:exactMatch UMLS:C1426911, + HGNC:20396, + HGNC_symbol:PILRA ; biolink:category biolink:Gene . OMIM:605342 a owl:Class ; rdfs:label "PILRB" ; IAO:0000142 PMID:10660620, PMID:14970179 ; - oboInOwl:hasDbXref UMLS:C1425430 ; oboInOwl:hasExactSynonym "PILRB", "paired immunoglobulin-like iia 2 receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29990 ; - skos:exactMatch HGNC_symbol:PILRB ; + skos:exactMatch UMLS:C1425430, + HGNC:18297, + HGNC_symbol:PILRB ; biolink:category biolink:Gene . OMIM:605343 a owl:Class ; @@ -204076,13 +211005,14 @@ OMIM:605343 a owl:Class ; PMID:17229845, PMID:8499640, PMID:9671416 ; - oboInOwl:hasDbXref UMLS:C1333581 ; oboInOwl:hasExactSynonym "FSTL3", "follistatin-like 3", "follistatin-related gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10272 ; - skos:exactMatch HGNC_symbol:FSTL3 ; + skos:exactMatch UMLS:C1333581, + HGNC:3973, + HGNC_symbol:FSTL3 ; biolink:category biolink:Gene . OMIM:605344 a owl:Class ; @@ -204092,14 +211022,15 @@ OMIM:605344 a owl:Class ; PMID:8921405, PMID:9249075, PMID:9332362 ; - oboInOwl:hasDbXref UMLS:C1417717 ; oboInOwl:hasExactSynonym "NFYC", "ccaat-binding factor, c subunit", "nuclear transcription factor y, gamma", "transcription factor nf-y, c subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4802 ; - skos:exactMatch HGNC_symbol:NFYC ; + skos:exactMatch UMLS:C1417717, + HGNC:7806, + HGNC_symbol:NFYC ; biolink:category biolink:Gene . OMIM:605345 a owl:Class ; @@ -204109,7 +211040,6 @@ OMIM:605345 a owl:Class ; PMID:27027282, PMID:27497299, PMID:8600462 ; - oboInOwl:hasDbXref UMLS:C1823174 ; oboInOwl:hasExactSynonym "ALKBH1", "abh", "abh1", @@ -204117,7 +211047,9 @@ OMIM:605345 a owl:Class ; "alkb, e. coli, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8846 ; - skos:exactMatch HGNC_symbol:ALKBH1 ; + skos:exactMatch UMLS:C1823174, + HGNC:17911, + HGNC_symbol:ALKBH1 ; biolink:category biolink:Gene . OMIM:605346 a owl:Class ; @@ -204134,7 +211066,6 @@ OMIM:605347 a owl:Class ; PMID:16000323, PMID:20733033, PMID:24463520 ; - oboInOwl:hasDbXref UMLS:C1425478 ; oboInOwl:hasExactSynonym "PADI4", "pad4", "peptidylarginine deiminase 5", @@ -204142,32 +211073,36 @@ OMIM:605347 a owl:Class ; "protein-arginine deiminase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23569 ; - skos:exactMatch HGNC_symbol:PADI4 ; + skos:exactMatch UMLS:C1425478, + HGNC:18368, + HGNC_symbol:PADI4 ; biolink:category biolink:Gene . OMIM:605348 a owl:Class ; rdfs:label "TMEM50A" ; IAO:0000142 PMID:10077530, PMID:10845894 ; - oboInOwl:hasDbXref UMLS:C1823310 ; oboInOwl:hasExactSynonym "TMEM50A", "small membrane protein 1", "transmembrane protein 50a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23585 ; - skos:exactMatch HGNC_symbol:TMEM50A ; + skos:exactMatch UMLS:C1823310, + HGNC:30590, + HGNC_symbol:TMEM50A ; biolink:category biolink:Gene . OMIM:605349 a owl:Class ; rdfs:label "NARF" ; IAO:0000142 PMID:10514485 ; - oboInOwl:hasDbXref UMLS:C1826349 ; oboInOwl:hasExactSynonym "NARF", "iop2", "nuclear prelamin a recognition factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26502 ; - skos:exactMatch HGNC_symbol:NARF ; + skos:exactMatch UMLS:C1826349, + HGNC:29916, + HGNC_symbol:NARF ; biolink:category biolink:Gene . OMIM:605350 a owl:Class ; @@ -204185,7 +211120,6 @@ OMIM:605350 a owl:Class ; PMID:18003935, PMID:24771852, PMID:9600072 ; - oboInOwl:hasDbXref UMLS:C1424880 ; oboInOwl:hasExactSynonym "IL27RA", "interleukin 27 receptor", "interleukin 27 receptor, alpha", @@ -204193,7 +211127,9 @@ OMIM:605350 a owl:Class ; "wsx1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9466 ; - skos:exactMatch HGNC_symbol:IL27RA ; + skos:exactMatch UMLS:C1424880, + HGNC:17290, + HGNC_symbol:IL27RA ; biolink:category biolink:Gene . OMIM:605351 a owl:Class ; @@ -204201,13 +211137,14 @@ OMIM:605351 a owl:Class ; IAO:0000142 PMID:14976252, PMID:7642106, PMID:9647217 ; - oboInOwl:hasDbXref UMLS:C1414609 ; oboInOwl:hasExactSynonym "FGL2", "fibrinogen-like 2", "fibroleukin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10875 ; - skos:exactMatch HGNC_symbol:FGL2 ; + skos:exactMatch UMLS:C1414609, + HGNC:3696, + HGNC_symbol:FGL2 ; biolink:category biolink:Gene . OMIM:605352 a owl:Class ; @@ -204215,13 +211152,14 @@ OMIM:605352 a owl:Class ; IAO:0000142 PMID:20616063, PMID:9973190 ; RO:0002525 CHR:9606chr8p23.1 ; - oboInOwl:hasDbXref UMLS:C1334503 ; oboInOwl:hasExactSynonym "MFHAS1", "malignant fibrous histiocytoma-amplified sequence 1", "malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9258 ; - skos:exactMatch HGNC_symbol:MFHAS1 ; + skos:exactMatch UMLS:C1334503, + HGNC:16982, + HGNC_symbol:MFHAS1 ; biolink:category biolink:Gene . OMIM:605353 a owl:Class ; @@ -204268,7 +211206,6 @@ OMIM:605353 a owl:Class ; PMID:19564604 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:601665 ; - oboInOwl:hasDbXref UMLS:C1825346 ; oboInOwl:hasExactSynonym "GHRL", "ghrelin", "growth hormone secretagogue receptor ligand", @@ -204276,21 +211213,24 @@ OMIM:605353 a owl:Class ; "obestatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51738 ; - skos:exactMatch HGNC_symbol:GHRL ; + skos:exactMatch UMLS:C1825346, + HGNC:18129, + HGNC_symbol:GHRL ; biolink:category biolink:Gene . OMIM:605354 a owl:Class ; rdfs:label "CARD18" ; IAO:0000142 PMID:11051551, PMID:11536016 ; - oboInOwl:hasDbXref UMLS:C1854396 ; oboInOwl:hasExactSynonym "CARD18", "caspase 1 inhibitor", "caspase recruitment domain-containing protein 18", "iceberg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59082 ; - skos:exactMatch HGNC_symbol:CARD18 ; + skos:exactMatch UMLS:C1854396, + HGNC:28861, + HGNC_symbol:CARD18 ; biolink:category biolink:Gene . OMIM:605356 a owl:Class ; @@ -204310,14 +211250,15 @@ OMIM:605356 a owl:Class ; PMID:8930394 ; RO:0002525 CHR:9606chr7q11.23 ; RO:0003303 OMIM:617665 ; - oboInOwl:hasDbXref UMLS:C1421561, - UMLS:C4540034 ; oboInOwl:hasExactSynonym "14-3-3-gamma", "YWHAG", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7532 ; - skos:exactMatch HGNC_symbol:YWHAG ; + skos:exactMatch UMLS:C1421561, + UMLS:C4540034, + HGNC:12852, + HGNC_symbol:YWHAG ; biolink:category biolink:Gene . OMIM:605357 a owl:Class ; @@ -204325,8 +211266,6 @@ OMIM:605357 a owl:Class ; IAO:0000142 PMID:10364255, PMID:11159353, PMID:11381094 ; - oboInOwl:hasDbXref UMLS:C1823135, - UMLS:C1854378 ; oboInOwl:hasExactSynonym "STON1", "ston1/alf spliced read-through transcript", "stoned b-like factor", @@ -204335,7 +211274,10 @@ OMIM:605357 a owl:Class ; "stonin1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11037 ; - skos:exactMatch HGNC_symbol:STON1 ; + skos:exactMatch UMLS:C1823135, + UMLS:C1854378, + HGNC:17003, + HGNC_symbol:STON1 ; biolink:category biolink:Gene . OMIM:605358 a owl:Class ; @@ -204343,26 +211285,28 @@ OMIM:605358 a owl:Class ; IAO:0000142 PMID:10364255, PMID:11159353, PMID:12107178 ; - oboInOwl:hasDbXref UMLS:C1332077 ; oboInOwl:hasExactSynonym "GTF2A1L", "general transcription factor iia, 1-like", "tfiia-alpha/beta-like factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11036 ; - skos:exactMatch HGNC_symbol:GTF2A1L ; + skos:exactMatch UMLS:C1332077, + HGNC:30727, + HGNC_symbol:GTF2A1L ; biolink:category biolink:Gene . OMIM:605359 a owl:Class ; rdfs:label "PRR4" ; IAO:0000142 PMID:7544782 ; - oboInOwl:hasDbXref UMLS:C1425246 ; oboInOwl:hasExactSynonym "PRR4", "lacrimal proline-rich protein", "prol4", "proline-rich protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11272 ; - skos:exactMatch HGNC_symbol:PRR4 ; + skos:exactMatch UMLS:C1425246, + HGNC:18020, + HGNC_symbol:PRR4 ; biolink:category biolink:Gene . OMIM:605360 a owl:Class ; @@ -204370,25 +211314,26 @@ OMIM:605360 a owl:Class ; IAO:0000142 PMID:8810253, PMID:8848724, PMID:9115212 ; - oboInOwl:hasDbXref UMLS:C1824611 ; oboInOwl:hasExactSynonym "CCDC85B", "coiled-coil domain-containing protein 85b", "delta antigen-interacting protein a", "hepatitis delta antigen-interacting protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11007 ; - skos:exactMatch HGNC_symbol:CCDC85B ; + skos:exactMatch UMLS:C1824611, + HGNC:24926, + HGNC_symbol:CCDC85B ; biolink:category biolink:Gene . OMIM:605362 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1j" ; IAO:0000142 PMID:10769282, PMID:15735644 ; - oboInOwl:hasDbXref UMLS:C1854368 ; oboInOwl:hasExactSynonym "CMD1J", "cardiomyopathy, dilated, 1j", "cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1854368 ; biolink:category biolink:Disease . OMIM:605365 a owl:Class ; @@ -204398,7 +211343,6 @@ OMIM:605365 a owl:Class ; OMIM:605366 a owl:Class ; rdfs:label "OLFM1" ; IAO:0000142 PMID:9039501 ; - oboInOwl:hasDbXref UMLS:C1424808 ; oboInOwl:hasExactSynonym "OLFM1", "amy", "neuroblastoma protein", @@ -204406,7 +211350,9 @@ OMIM:605366 a owl:Class ; "olfactomedin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10439 ; - skos:exactMatch HGNC_symbol:OLFM1 ; + skos:exactMatch UMLS:C1424808, + HGNC:17187, + HGNC_symbol:OLFM1 ; biolink:category biolink:Gene . OMIM:605367 a owl:Class ; @@ -204425,9 +211371,6 @@ OMIM:605367 a owl:Class ; PMID:23849775 ; RO:0002525 CHR:9606chr17p12 ; RO:0003303 OMIM:614731 ; - oboInOwl:hasDbXref UMLS:C1422480, - UMLS:C3539120, - UMLS:C3809526 ; oboInOwl:hasExactSynonym "ELAC2", "elac ribonuclease z 2", "elac, e. coli, homolog of, 2", @@ -204436,7 +211379,11 @@ OMIM:605367 a owl:Class ; "rnase zl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60528 ; - skos:exactMatch HGNC_symbol:ELAC2 ; + skos:exactMatch UMLS:C1422480, + UMLS:C3539120, + UMLS:C3809526, + HGNC:14198, + HGNC_symbol:ELAC2 ; biolink:category biolink:Gene . OMIM:605368 a owl:Class ; @@ -204446,27 +211393,29 @@ OMIM:605368 a owl:Class ; PMID:9523198, PMID:9867803, PMID:9973195 ; - oboInOwl:hasDbXref UMLS:C1332435 ; oboInOwl:hasExactSynonym "BNIP3L", "bcl2/adenovirus e1b 19-kd protein-interacting protein 3-like", "nix" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:665 ; - skos:exactMatch HGNC_symbol:BNIP3L ; + skos:exactMatch UMLS:C1332435, + HGNC:1085, + HGNC_symbol:BNIP3L ; biolink:category biolink:Gene . OMIM:605369 a owl:Class ; rdfs:label "TMPRSS11D" ; IAO:0000142 PMID:9070615, PMID:9565616 ; - oboInOwl:hasDbXref UMLS:C1540026 ; oboInOwl:hasExactSynonym "TMPRSS11D", "airway trypsin-like protease", "hat", "transmembrane protease, serine 11d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9407 ; - skos:exactMatch HGNC_symbol:TMPRSS11D ; + skos:exactMatch UMLS:C1540026, + HGNC:24059, + HGNC_symbol:TMPRSS11D ; biolink:category biolink:Gene . OMIM:605370 a owl:Class ; @@ -204477,8 +211426,6 @@ OMIM:605370 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr5q31.3 ; RO:0003303 OMIM:607785 ; - oboInOwl:hasDbXref UMLS:C1538925, - UMLS:C1854355 ; oboInOwl:hasExactSynonym "ARHGAP26", "graf/mll fusion gene", "gtpase regulator associated with focal adhesion kinase", @@ -204486,7 +211433,10 @@ OMIM:605370 a owl:Class ; "rho gtpase-activating protein 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23092 ; - skos:exactMatch HGNC_symbol:ARHGAP26 ; + skos:exactMatch UMLS:C1538925, + UMLS:C1854355, + HGNC:17073, + HGNC_symbol:ARHGAP26 ; biolink:category biolink:Gene . OMIM:605371 a owl:Class ; @@ -204499,19 +211449,19 @@ OMIM:605371 a owl:Class ; PMID:27535533 ; RO:0002525 CHR:9606chr20q13.13 ; RO:0003303 OMIM:608097 ; - oboInOwl:hasDbXref UMLS:C1423775 ; oboInOwl:hasExactSynonym "ARFGEF2", "adp-ribosylation factor guanine nucleotide exchange factor 2", "brefeldin a-inhibited guanine nucleotide exchange protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10564 ; - skos:exactMatch HGNC_symbol:ARFGEF2 ; + skos:exactMatch UMLS:C1423775, + HGNC:15853, + HGNC_symbol:ARFGEF2 ; biolink:category biolink:Gene . OMIM:605372 a owl:Class ; rdfs:label "HNRNPA3" ; IAO:0000142 PMID:8101480 ; - oboInOwl:hasDbXref UMLS:C1333920 ; oboInOwl:hasExactSynonym "HNRNPA3", "d10s102", "fbrnp", @@ -204520,20 +211470,23 @@ OMIM:605372 a owl:Class ; "hnrpa3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220988 ; - skos:exactMatch HGNC_symbol:HNRNPA3 ; + skos:exactMatch UMLS:C1333920, + HGNC:24941, + HGNC_symbol:HNRNPA3 ; biolink:category biolink:Gene . OMIM:605374 a owl:Class ; rdfs:label "MYCNOS" ; IAO:0000142 PMID:1419902, PMID:1695323 ; - oboInOwl:hasDbXref UMLS:C1424629 ; oboInOwl:hasExactSynonym "MYCNOS", "dna-binding transcriptional activator ncym", "mycn, opposite strand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10408 ; - skos:exactMatch HGNC_symbol:MYCNOS ; + skos:exactMatch UMLS:C1424629, + HGNC:16911, + HGNC_symbol:MYCNOS ; biolink:category biolink:Gene . OMIM:605377 a owl:Class ; @@ -204587,7 +211540,6 @@ OMIM:605377 a owl:Class ; PMID:8643606 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:160900 ; - oboInOwl:hasDbXref UMLS:C1414085 ; oboInOwl:hasExactSynonym "DMPK", "dm kinase", "dm protein kinase", @@ -204595,7 +211547,9 @@ OMIM:605377 a owl:Class ; "myotonin-protein kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1760 ; - skos:exactMatch HGNC_symbol:DMPK ; + skos:exactMatch UMLS:C1414085, + HGNC:2933, + HGNC_symbol:DMPK ; biolink:category biolink:Gene . OMIM:605378 a owl:Class ; @@ -204615,7 +211569,6 @@ OMIM:605378 a owl:Class ; PMID:9285947 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:231550 ; - oboInOwl:hasDbXref UMLS:C1422135 ; oboInOwl:hasExactSynonym "AAAS", "aaas gene", "adracalin", @@ -204623,7 +211576,9 @@ OMIM:605378 a owl:Class ; "aladin wd repeat nucleoporin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8086 ; - skos:exactMatch HGNC_symbol:AAAS ; + skos:exactMatch UMLS:C1422135, + HGNC:13666, + HGNC_symbol:AAAS ; biolink:category biolink:Gene . OMIM:605379 a owl:Class ; @@ -204638,14 +211593,15 @@ OMIM:605379 a owl:Class ; PMID:31503551 ; RO:0002525 CHR:9606chr16q23.2 ; RO:0003303 OMIM:256850 ; - oboInOwl:hasDbXref UMLS:C1414964, - UMLS:C1850386 ; oboInOwl:hasExactSynonym "GAN", "gan1", "gigaxonin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8139 ; - skos:exactMatch HGNC_symbol:GAN ; + skos:exactMatch UMLS:C1414964, + UMLS:C1850386, + HGNC:4137, + HGNC_symbol:GAN ; biolink:category biolink:Gene . OMIM:605380 a owl:Class ; @@ -204670,12 +211626,13 @@ OMIM:605380 a owl:Class ; PMID:9024275 ; RO:0002525 CHR:9606chr12p13.32 ; RO:0003303 OMIM:617993 ; - oboInOwl:hasDbXref UMLS:C1414605 ; oboInOwl:hasExactSynonym "FGF23", "fibroblast growth factor 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8074 ; - skos:exactMatch HGNC_symbol:FGF23 ; + skos:exactMatch UMLS:C1414605, + HGNC:3680, + HGNC_symbol:FGF23 ; biolink:category biolink:Gene . OMIM:605381 a owl:Class ; @@ -204685,14 +211642,15 @@ OMIM:605381 a owl:Class ; PMID:11062476, PMID:15361618, PMID:19020613 ; - oboInOwl:hasDbXref UMLS:C1425338 ; oboInOwl:hasExactSynonym "RHCG", "rh-related glycoprotein rhgk", "rhesus blood group, c glycoprotein", "rhesus blood group-associated kidney homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51458 ; - skos:exactMatch HGNC_symbol:RHCG ; + skos:exactMatch UMLS:C1425338, + HGNC:18140, + HGNC_symbol:RHCG ; biolink:category biolink:Gene . OMIM:605382 a owl:Class ; @@ -204720,14 +211678,15 @@ OMIM:605383 a owl:Class ; PMID:25398835 ; RO:0002525 CHR:9606chr16p12.1 ; RO:0003303 OMIM:147050 ; - oboInOwl:hasDbXref UMLS:C1416407, - UMLS:C1854312 ; oboInOwl:hasExactSynonym "IL21R", "il21r/bcl6 fusion gene", "interleukin 21 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50615 ; - skos:exactMatch HGNC_symbol:IL21R ; + skos:exactMatch UMLS:C1416407, + UMLS:C1854312, + HGNC:6006, + HGNC_symbol:IL21R ; biolink:category biolink:Gene . OMIM:605384 a owl:Class ; @@ -204754,12 +211713,13 @@ OMIM:605384 a owl:Class ; PMID:26519529 ; RO:0002525 CHR:9606chr4q27 ; RO:0003303 OMIM:615767 ; - oboInOwl:hasDbXref UMLS:C1416406 ; oboInOwl:hasExactSynonym "IL21", "interleukin 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59067 ; - skos:exactMatch HGNC_symbol:IL21 ; + skos:exactMatch UMLS:C1416406, + HGNC:6005, + HGNC_symbol:IL21 ; biolink:category biolink:Gene . OMIM:605385 a owl:Class ; @@ -204768,12 +211728,13 @@ OMIM:605385 a owl:Class ; PMID:10373325, PMID:24291792, PMID:9065405 ; - oboInOwl:hasDbXref UMLS:C1422161 ; oboInOwl:hasExactSynonym "RCE1", "prenyl protein protease rce1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9986 ; - skos:exactMatch HGNC_symbol:RCE1 ; + skos:exactMatch UMLS:C1422161, + HGNC:13721, + HGNC_symbol:RCE1 ; biolink:category biolink:Gene . OMIM:605386 a owl:Class ; @@ -204807,7 +211768,6 @@ OMIM:605386 a owl:Class ; PMID:25119025, PMID:27383785, PMID:8446173 ; - oboInOwl:hasDbXref UMLS:C1537910 ; oboInOwl:hasExactSynonym "MIRLET7A1", "let7, c. elegans, homolog of, a1", "let7a1", @@ -204818,18 +211778,21 @@ OMIM:605386 a owl:Class ; "mirnlet7a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406881 ; - skos:exactMatch HGNC_symbol:MIRLET7A1 ; + skos:exactMatch UMLS:C1537910, + HGNC:31476, + HGNC_symbol:MIRLET7A1 ; biolink:category biolink:Gene . OMIM:605390 a owl:Class ; rdfs:label "LPXN" ; IAO:0000142 PMID:9565592 ; - oboInOwl:hasDbXref UMLS:C1422384 ; oboInOwl:hasExactSynonym "LPXN", "leupaxin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9404 ; - skos:exactMatch HGNC_symbol:LPXN ; + skos:exactMatch UMLS:C1422384, + HGNC:14061, + HGNC_symbol:LPXN ; biolink:category biolink:Gene . OMIM:605391 a owl:Class ; @@ -204840,14 +211803,15 @@ OMIM:605391 a owl:Class ; PMID:9923613 ; RO:0002525 CHR:9606chr10q23.2 ; RO:0003303 OMIM:188470 ; - oboInOwl:hasDbXref UMLS:C1417169 ; oboInOwl:hasExactSynonym "MINPP1", "hiper1, chicken, homolog of", "mipp, rat, homolog of", "multiple inositol polyphosphate phosphatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9562 ; - skos:exactMatch HGNC_symbol:MINPP1 ; + skos:exactMatch UMLS:C1417169, + HGNC:7102, + HGNC_symbol:MINPP1 ; biolink:category biolink:Gene . OMIM:605392 a owl:Class ; @@ -204857,15 +211821,16 @@ OMIM:605392 a owl:Class ; PMID:29982567, PMID:9949182 ; RO:0002525 CHR:9606chr6q27 ; - oboInOwl:hasDbXref UMLS:C1333541, - UMLS:C3148910 ; oboInOwl:hasExactSynonym "FGFR1OP", "fgfr1 oncogene partner", "fibroblast growth factor receptor 1 oncogene partner", "fop/fgfr1 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11116 ; - skos:exactMatch HGNC_symbol:CEP43 ; + skos:exactMatch UMLS:C1333541, + UMLS:C3148910, + HGNC:17012, + HGNC_symbol:CEP43 ; biolink:category biolink:Gene . OMIM:605393 a owl:Class ; @@ -204879,7 +211844,6 @@ OMIM:605393 a owl:Class ; PMID:31118510 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:618109 ; - oboInOwl:hasDbXref UMLS:C1425259 ; oboInOwl:hasExactSynonym "KDM5B", "jumonji, at-rich interactive domain 1b", "lysine demethylase 5b", @@ -204890,7 +211854,9 @@ OMIM:605393 a owl:Class ; "retinoblastoma-binding protein 2, homolog 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10765 ; - skos:exactMatch HGNC_symbol:KDM5B ; + skos:exactMatch UMLS:C1425259, + HGNC:18039, + HGNC_symbol:KDM5B ; biolink:category biolink:Gene . OMIM:605394 a owl:Class ; @@ -204906,19 +211872,19 @@ OMIM:605394 a owl:Class ; PMID:9755173 ; RO:0002525 CHR:9606chr6q15 ; RO:0003303 OMIM:618394 ; - oboInOwl:hasDbXref UMLS:C1422394 ; oboInOwl:hasExactSynonym "BACH2", "basic leucine zipper transcription factor 2", "btb and cnc homology 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60468 ; - skos:exactMatch HGNC_symbol:BACH2 ; + skos:exactMatch UMLS:C1422394, + HGNC:14078, + HGNC_symbol:BACH2 ; biolink:category biolink:Gene . OMIM:605395 a owl:Class ; rdfs:label "TMED1" ; IAO:0000142 PMID:8621446 ; - oboInOwl:hasDbXref UMLS:C1539983 ; oboInOwl:hasExactSynonym "TMED1", "il1rl1-binding protein", "interleukin 1 receptor-like 1 ligand", @@ -204926,7 +211892,9 @@ OMIM:605395 a owl:Class ; "transmembrane p24 trafficking protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11018 ; - skos:exactMatch HGNC_symbol:TMED1 ; + skos:exactMatch UMLS:C1539983, + HGNC:17291, + HGNC_symbol:TMED1 ; biolink:category biolink:Gene . OMIM:605396 a owl:Class ; @@ -204942,13 +211910,14 @@ OMIM:605397 a owl:Class ; PMID:19029379, PMID:22547693, PMID:8673704 ; - oboInOwl:hasDbXref UMLS:C1424664 ; oboInOwl:hasExactSynonym "CD226", "cd226 antigen", "dnax accessory molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10666 ; - skos:exactMatch HGNC_symbol:CD226 ; + skos:exactMatch UMLS:C1424664, + HGNC:16961, + HGNC_symbol:CD226 ; biolink:category biolink:Gene . OMIM:605398 a owl:Class ; @@ -204960,13 +211929,14 @@ OMIM:605398 a owl:Class ; PMID:20675388, PMID:22442383, PMID:29798856 ; - oboInOwl:hasDbXref UMLS:C1424460 ; oboInOwl:hasExactSynonym "CXCL16", "chemokine, cxc motif, ligand 16", "srpsox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58191 ; - skos:exactMatch HGNC_symbol:CXCL16 ; + skos:exactMatch UMLS:C1424460, + HGNC:16642, + HGNC_symbol:CXCL16 ; biolink:category biolink:Gene . OMIM:605399 a owl:Class ; @@ -204974,31 +211944,33 @@ OMIM:605399 a owl:Class ; IAO:0000142 PMID:12215539, PMID:25430769, PMID:9733643 ; - oboInOwl:hasDbXref UMLS:C1421970 ; oboInOwl:hasExactSynonym "NID2", "nidogen 2", "osteonidogen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22795 ; - skos:exactMatch HGNC_symbol:NID2 ; + skos:exactMatch UMLS:C1421970, + HGNC:13389, + HGNC_symbol:NID2 ; biolink:category biolink:Gene . OMIM:605400 a owl:Class ; rdfs:label "fibromatosis, gingival, with hypertrichosis and mental retardation" ; IAO:0000142 PMID:11102931, PMID:2806737 ; - oboInOwl:hasDbXref UMLS:C1854306 ; - oboInOwl:hasExactSynonym "fibromatosis, gingival, with hypertrichosis and mental retardation" . + oboInOwl:hasExactSynonym "fibromatosis, gingival, with hypertrichosis and mental retardation" ; + skos:exactMatch UMLS:C1854306 . OMIM:605401 a owl:Class ; rdfs:label "IQGAP2" ; IAO:0000142 PMID:8756646 ; - oboInOwl:hasDbXref UMLS:C1416472 ; oboInOwl:hasExactSynonym "IQGAP2", "iq motif-containing gtpase-activating protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10788 ; - skos:exactMatch HGNC_symbol:IQGAP2 ; + skos:exactMatch UMLS:C1416472, + HGNC:6111, + HGNC_symbol:IQGAP2 ; biolink:category biolink:Gene . OMIM:605402 a owl:Class ; @@ -205032,7 +212004,6 @@ OMIM:605402 a owl:Class ; PMID:30089911, PMID:31000591, PMID:32269339 ; - oboInOwl:hasDbXref UMLS:C1540292 ; oboInOwl:hasExactSynonym "CD274", "b7 homolog 1", "cd274 molecule", @@ -205041,7 +212012,9 @@ OMIM:605402 a owl:Class ; "programmed death ligand 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29126 ; - skos:exactMatch HGNC_symbol:CD274 ; + skos:exactMatch UMLS:C1540292, + HGNC:17635, + HGNC_symbol:CD274 ; biolink:category biolink:Gene . OMIM:605403 a owl:Class ; @@ -205050,24 +212023,26 @@ OMIM:605403 a owl:Class ; PMID:11561001, PMID:15690042, PMID:19122641 ; - oboInOwl:hasDbXref UMLS:C1336638 ; oboInOwl:hasExactSynonym "TLR6", "toll-like receptor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10333 ; - skos:exactMatch HGNC_symbol:TLR6 ; + skos:exactMatch UMLS:C1336638, + HGNC:16711, + HGNC_symbol:TLR6 ; biolink:category biolink:Gene . OMIM:605404 a owl:Class ; rdfs:label "BOK" ; IAO:0000142 PMID:9356461 ; - oboInOwl:hasDbXref UMLS:C1412813 ; oboInOwl:hasExactSynonym "BOK", "bcl2-like 9", "bcl2-related ovarian killer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:666 ; - skos:exactMatch HGNC_symbol:BOK ; + skos:exactMatch UMLS:C1412813, + HGNC:1087, + HGNC_symbol:BOK ; biolink:category biolink:Gene . OMIM:605405 a owl:Class ; @@ -205077,13 +212052,14 @@ OMIM:605405 a owl:Class ; PMID:7584026, PMID:8700515, PMID:8700527 ; - oboInOwl:hasDbXref UMLS:C1424599 ; oboInOwl:hasExactSynonym "USP6NL", "related to the n terminus of tre", "usp6 n-terminal-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9712 ; - skos:exactMatch HGNC_symbol:USP6NL ; + skos:exactMatch UMLS:C1424599, + HGNC:16858, + HGNC_symbol:USP6NL ; biolink:category biolink:Gene . OMIM:605406 a owl:Class ; @@ -205092,14 +212068,15 @@ OMIM:605406 a owl:Class ; PMID:16641999, PMID:7596406, PMID:8663407 ; - oboInOwl:hasDbXref UMLS:C1823301 ; oboInOwl:hasExactSynonym "TMED10", "transmembrane emp24 transport domain-containing protein 10", "transmembrane p24 trafficking protein 10", "transmembrane trafficking protein, 21-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10972 ; - skos:exactMatch HGNC_symbol:TMED10 ; + skos:exactMatch UMLS:C1823301, + HGNC:16998, + HGNC_symbol:TMED10 ; biolink:category biolink:Gene . OMIM:605408 a owl:Class ; @@ -205112,7 +212089,6 @@ OMIM:605409 a owl:Class ; PMID:11003711, PMID:7707538, PMID:9315662 ; - oboInOwl:hasDbXref UMLS:C1423632 ; oboInOwl:hasExactSynonym "TCERG1", "tata box-binding protein-associated factor 2s", "tbp-associated factor, RNA polymerase ii, 150-kd", @@ -205120,7 +212096,9 @@ OMIM:605409 a owl:Class ; "transcription factor ca150" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10915 ; - skos:exactMatch HGNC_symbol:TCERG1 ; + skos:exactMatch UMLS:C1423632, + HGNC:15630, + HGNC_symbol:TCERG1 ; biolink:category biolink:Gene . OMIM:605410 a owl:Class ; @@ -205131,15 +212109,16 @@ OMIM:605410 a owl:Class ; PMID:18368112, PMID:19138172, PMID:24501278 ; - oboInOwl:hasDbXref UMLS:C1416561, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "KCND2", "kiaa1044", "kv4.2", "potassium voltage-gated channel, shal-related subfamily, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3751 ; - skos:exactMatch HGNC_symbol:KCND2 ; + skos:exactMatch UMLS:C1416561, + UMLS:C2986382, + HGNC:6238, + HGNC_symbol:KCND2 ; biolink:category biolink:Gene . OMIM:605411 a owl:Class ; @@ -205159,7 +212138,6 @@ OMIM:605411 a owl:Class ; PMID:9843794 ; RO:0002525 CHR:9606chr1p13.2 ; RO:0003303 OMIM:607346 ; - oboInOwl:hasDbXref UMLS:C1416562 ; oboInOwl:hasExactSynonym "KCND3", "kcnd3l", "kcnd3s", @@ -205167,7 +212145,9 @@ OMIM:605411 a owl:Class ; "potassium voltage-gated channel, shal-related subfamily, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3752 ; - skos:exactMatch HGNC_symbol:KCND3 ; + skos:exactMatch UMLS:C1416562, + HGNC:6239, + HGNC_symbol:KCND3 ; biolink:category biolink:Gene . OMIM:605412 a owl:Class ; @@ -205175,13 +212155,14 @@ OMIM:605412 a owl:Class ; IAO:0000142 PMID:10444334, PMID:28428259, PMID:28625565 ; - oboInOwl:hasDbXref UMLS:C1419225 ; oboInOwl:hasExactSynonym "RABL2A", "rab, member of ras oncogene family-like 2a", "rab-like 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11159 ; - skos:exactMatch HGNC_symbol:RABL2A ; + skos:exactMatch UMLS:C1419225, + HGNC:9799, + HGNC_symbol:RABL2A ; biolink:category biolink:Gene . OMIM:605413 a owl:Class ; @@ -205189,13 +212170,14 @@ OMIM:605413 a owl:Class ; IAO:0000142 PMID:10444334, PMID:28428259, PMID:28625565 ; - oboInOwl:hasDbXref UMLS:C1419226 ; oboInOwl:hasExactSynonym "RABL2B", "rab, member of ras oncogene family-like 2b", "rab-like 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11158 ; - skos:exactMatch HGNC_symbol:RABL2B ; + skos:exactMatch UMLS:C1419226, + HGNC:9800, + HGNC_symbol:RABL2B ; biolink:category biolink:Gene . OMIM:605414 a owl:Class ; @@ -205213,41 +212195,44 @@ OMIM:605414 a owl:Class ; PMID:27066581 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:608907 ; - oboInOwl:hasDbXref UMLS:C1412066 ; oboInOwl:hasExactSynonym "ABCA7", "abcx", "atp-binding cassette, subfamily a, member 7", "sjogren syndrome antigen ss-n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10347 ; - skos:exactMatch HGNC_symbol:ABCA7 ; + skos:exactMatch UMLS:C1412066, + HGNC:37, + HGNC_symbol:ABCA7 ; biolink:category biolink:Gene . OMIM:605415 a owl:Class ; rdfs:label "DKK2" ; IAO:0000142 PMID:10570958, PMID:20332099 ; - oboInOwl:hasDbXref UMLS:C1414058 ; oboInOwl:hasExactSynonym "DKK2", "dickkopf wnt signaling pathway inhibitor 2", "dickkopf, xenopus, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27123 ; - skos:exactMatch HGNC_symbol:DKK2 ; + skos:exactMatch UMLS:C1414058, + HGNC:2892, + HGNC_symbol:DKK2 ; biolink:category biolink:Gene . OMIM:605416 a owl:Class ; rdfs:label "DKK3" ; IAO:0000142 PMID:10570958, PMID:9070656 ; - oboInOwl:hasDbXref UMLS:C1414059 ; oboInOwl:hasExactSynonym "DKK3", "dickkopf wnt signaling pathway inhibitor 3", "dickkopf, xenopus, homolog of, 3", "regulated 1n glioma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27122 ; - skos:exactMatch HGNC_symbol:DKK3 ; + skos:exactMatch UMLS:C1414059, + HGNC:2893, + HGNC_symbol:DKK3 ; biolink:category biolink:Gene . OMIM:605417 a owl:Class ; @@ -205255,26 +212240,28 @@ OMIM:605417 a owl:Class ; IAO:0000142 PMID:10570958, PMID:11701963, PMID:22249261 ; - oboInOwl:hasDbXref UMLS:C1414060 ; oboInOwl:hasExactSynonym "DKK4", "dickkopf wnt signaling pathway inhibitor 4", "dickkopf, xenopus, homolog of, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27121 ; - skos:exactMatch HGNC_symbol:DKK4 ; + skos:exactMatch UMLS:C1414060, + HGNC:2894, + HGNC_symbol:DKK4 ; biolink:category biolink:Gene . OMIM:605418 a owl:Class ; rdfs:label "DKKL1" ; IAO:0000142 PMID:10570958 ; - oboInOwl:hasDbXref UMLS:C1539292 ; oboInOwl:hasExactSynonym "DKKL1", "dickkopf-like 1", "sgy", "soggy 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27120 ; - skos:exactMatch HGNC_symbol:DKKL1 ; + skos:exactMatch UMLS:C1539292, + HGNC:16528, + HGNC_symbol:DKKL1 ; biolink:category biolink:Gene . OMIM:605420 a owl:Class ; @@ -205297,16 +212284,17 @@ OMIM:605420 a owl:Class ; PMID:9778501 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:615529 ; - oboInOwl:hasDbXref UMLS:C1412373, - UMLS:C1865044, - UMLS:C3150703, - UMLS:C3809819 ; oboInOwl:hasExactSynonym "ALX4", "aristaless homeobox 4", "aristaless-like 4, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60529 ; - skos:exactMatch HGNC_symbol:ALX4 ; + skos:exactMatch UMLS:C1412373, + UMLS:C1865044, + UMLS:C3150703, + UMLS:C3809819, + HGNC:450, + HGNC_symbol:ALX4 ; biolink:category biolink:Gene . OMIM:605421 a owl:Class ; @@ -205318,12 +212306,13 @@ OMIM:605421 a owl:Class ; PMID:22419820, PMID:26027930, PMID:30814516 ; - oboInOwl:hasDbXref UMLS:C1332020 ; oboInOwl:hasExactSynonym "ADAMTS9", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56999 ; - skos:exactMatch HGNC_symbol:ADAMTS9 ; + skos:exactMatch UMLS:C1332020, + HGNC:13202, + HGNC_symbol:ADAMTS9 ; biolink:category biolink:Gene . OMIM:605422 a owl:Class ; @@ -205331,13 +212320,14 @@ OMIM:605422 a owl:Class ; IAO:0000142 PMID:11090615, PMID:12872252, PMID:14517299 ; - oboInOwl:hasDbXref UMLS:C1424471 ; oboInOwl:hasExactSynonym "ZNF350", "zinc finger and brca1-interacting protein with a krab domain 1", "zinc finger protein 350" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59348 ; - skos:exactMatch HGNC_symbol:ZNF350 ; + skos:exactMatch UMLS:C1424471, + HGNC:16656, + HGNC_symbol:ZNF350 ; biolink:category biolink:Gene . OMIM:605423 a owl:Class ; @@ -205357,15 +212347,16 @@ OMIM:605423 a owl:Class ; PMID:8805249 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:233420 ; - oboInOwl:hasDbXref UMLS:C1414044, - UMLS:C1856273, - UMLS:C5436061 ; oboInOwl:hasExactSynonym "DHH", "desert hedgehog", "desert hedgehog signaling molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50846 ; - skos:exactMatch HGNC_symbol:DHH ; + skos:exactMatch UMLS:C1414044, + UMLS:C1856273, + UMLS:C5436061, + HGNC:2865, + HGNC_symbol:DHH ; biolink:category biolink:Gene . OMIM:605424 a owl:Class ; @@ -205375,13 +212366,14 @@ OMIM:605424 a owl:Class ; PMID:17699740, PMID:19907488, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1422120 ; oboInOwl:hasExactSynonym "MAML1", "mastermind, drosophila, homolog of, 1", "mastermind-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9794 ; - skos:exactMatch HGNC_symbol:MAML1 ; + skos:exactMatch UMLS:C1422120, + HGNC:13632, + HGNC_symbol:MAML1 ; biolink:category biolink:Gene . OMIM:605425 a owl:Class ; @@ -205395,25 +212387,27 @@ OMIM:605425 a owl:Class ; PMID:6437964 ; RO:0002525 CHR:9606chr1p34.3 ; RO:0003303 OMIM:617524 ; - oboInOwl:hasDbXref UMLS:C1415079 ; oboInOwl:hasExactSynonym "GJB4", "connexin 30.3", "gap junction protein, beta-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127534 ; - skos:exactMatch HGNC_symbol:GJB4 ; + skos:exactMatch UMLS:C1415079, + HGNC:4286, + HGNC_symbol:GJB4 ; biolink:category biolink:Gene . OMIM:605426 a owl:Class ; rdfs:label "TP53AIP1" ; IAO:0000142 PMID:11030628 ; - oboInOwl:hasDbXref UMLS:C1854276 ; oboInOwl:hasExactSynonym "TP53AIP1", "p53-regulated apoptosis-inducing protein 1", "tumor protein p53-regulated apoptosis-inducing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63970 ; - skos:exactMatch HGNC_symbol:TP53AIP1 ; + skos:exactMatch UMLS:C1854276, + HGNC:29984, + HGNC_symbol:TP53AIP1 ; biolink:category biolink:Gene . OMIM:605427 a owl:Class ; @@ -205458,7 +212452,6 @@ OMIM:605427 a owl:Class ; PMID:8179305 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:613508 ; - oboInOwl:hasDbXref UMLS:C1425291 ; oboInOwl:hasExactSynonym "TRPV4", "osm9-like transient receptor potential channel 4", "transient receptor potential cation channel, subfamily v, member 4", @@ -205467,7 +212460,9 @@ OMIM:605427 a owl:Class ; "vanilloid receptor-related osmotically activated channel" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59341 ; - skos:exactMatch HGNC_symbol:TRPV4 ; + skos:exactMatch UMLS:C1425291, + HGNC:18083, + HGNC_symbol:TRPV4 ; biolink:category biolink:Gene . OMIM:605430 a owl:Class ; @@ -205475,7 +212470,6 @@ OMIM:605430 a owl:Class ; IAO:0000142 PMID:11106729, PMID:14662895, PMID:9480848 ; - oboInOwl:hasDbXref UMLS:C1422725 ; oboInOwl:hasExactSynonym "SPAG9", "kiaa0516", "protein highly expressed 1n testis", @@ -205483,7 +212477,9 @@ OMIM:605430 a owl:Class ; "sunday driver, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9043 ; - skos:exactMatch HGNC_symbol:SPAG9 ; + skos:exactMatch UMLS:C1422725, + HGNC:14524, + HGNC_symbol:SPAG9 ; biolink:category biolink:Gene . OMIM:605431 a owl:Class ; @@ -205495,7 +212491,6 @@ OMIM:605431 a owl:Class ; PMID:30945334 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:618443 ; - oboInOwl:hasDbXref UMLS:C1417026 ; oboInOwl:hasExactSynonym "MAPK8IP3", "jnk-interacting protein 3", "jnk/stress-activated protein kinase-associated protein 1", @@ -205503,19 +212498,22 @@ OMIM:605431 a owl:Class ; "sunday driver, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23162 ; - skos:exactMatch HGNC_symbol:MAPK8IP3 ; + skos:exactMatch UMLS:C1417026, + HGNC:6884, + HGNC_symbol:MAPK8IP3 ; biolink:category biolink:Gene . OMIM:605433 a owl:Class ; rdfs:label "KIF13A" ; IAO:0000142 PMID:11106728, PMID:15479732 ; - oboInOwl:hasDbXref UMLS:C1422761 ; oboInOwl:hasExactSynonym "KIF13A", "kinesin family member 13a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63971 ; - skos:exactMatch HGNC_symbol:KIF13A ; + skos:exactMatch UMLS:C1422761, + HGNC:14566, + HGNC_symbol:KIF13A ; biolink:category biolink:Gene . OMIM:605434 a owl:Class ; @@ -205527,13 +212525,14 @@ OMIM:605434 a owl:Class ; PMID:16885021, PMID:16885022, PMID:16885023 ; - oboInOwl:hasDbXref UMLS:C1426354 ; oboInOwl:hasExactSynonym "CLSPN", "claspin", "claspin, xenopus, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63967 ; - skos:exactMatch HGNC_symbol:CLSPN ; + skos:exactMatch UMLS:C1426354, + HGNC:19715, + HGNC_symbol:CLSPN ; biolink:category biolink:Gene . OMIM:605435 a owl:Class ; @@ -205551,7 +212550,6 @@ OMIM:605435 a owl:Class ; PMID:8119958 ; RO:0002525 CHR:9606chr14q12 ; RO:0003303 OMIM:617364 ; - oboInOwl:hasDbXref UMLS:C1538716 ; oboInOwl:hasExactSynonym "PRKD1", "pkc-mu", "protein kinase c, mu", @@ -205559,7 +212557,9 @@ OMIM:605435 a owl:Class ; "protein kinase d1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5587 ; - skos:exactMatch HGNC_symbol:PRKD1 ; + skos:exactMatch UMLS:C1538716, + HGNC:9407, + HGNC_symbol:PRKD1 ; biolink:category biolink:Gene . OMIM:605436 a owl:Class ; @@ -205572,14 +212572,15 @@ OMIM:605436 a owl:Class ; PMID:19656775, PMID:23771028, PMID:24916642 ; - oboInOwl:hasDbXref UMLS:C2240000 ; oboInOwl:hasExactSynonym "SNORD116-1", "prader-willi critical region gene 1", "rna, hbii-85 small nucleolar snorna, hbii-85", "small nucleolar rna, c/d box, 116-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100033413 ; - skos:exactMatch HGNC_symbol:SNORD116-1 ; + skos:exactMatch UMLS:C2240000, + HGNC:33067, + HGNC_symbol:SNORD116-1 ; biolink:category biolink:Gene . OMIM:605437 a owl:Class ; @@ -205590,13 +212591,14 @@ OMIM:605437 a owl:Class ; PMID:1986216 ; RO:0002525 CHR:9606chr14q23.1 ; RO:0003303 OMIM:601367 ; - oboInOwl:hasDbXref UMLS:C1418920 ; oboInOwl:hasExactSynonym "PRKCH", "pkcl", "protein kinase c, eta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5583 ; - skos:exactMatch HGNC_symbol:PRKCH ; + skos:exactMatch UMLS:C1418920, + HGNC:9403, + HGNC_symbol:PRKCH ; biolink:category biolink:Gene . OMIM:605438 a owl:Class ; @@ -205604,27 +212606,29 @@ OMIM:605438 a owl:Class ; IAO:0000142 PMID:10854099, PMID:9115257, PMID:9286858 ; - oboInOwl:hasDbXref UMLS:C1414068 ; oboInOwl:hasExactSynonym "DLGAP2", "dap2", "discs large-associated protein 2", "sap90/psd95-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9228 ; - skos:exactMatch HGNC_symbol:DLGAP2 ; + skos:exactMatch UMLS:C1414068, + HGNC:2906, + HGNC_symbol:DLGAP2 ; biolink:category biolink:Gene . OMIM:605439 a owl:Class ; rdfs:label "EHF" ; IAO:0000142 PMID:10527851, PMID:10644770 ; - oboInOwl:hasDbXref UMLS:C1333333 ; oboInOwl:hasExactSynonym "EHF", "epithelium-specific ets factor 3", "ets homologous factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26298 ; - skos:exactMatch HGNC_symbol:EHF ; + skos:exactMatch UMLS:C1333333, + HGNC:3246, + HGNC_symbol:EHF ; biolink:category biolink:Gene . OMIM:605440 a owl:Class ; @@ -205632,7 +212636,6 @@ OMIM:605440 a owl:Class ; IAO:0000142 PMID:10575211, PMID:11001934, PMID:20940304 ; - oboInOwl:hasDbXref UMLS:C1540152 ; oboInOwl:hasExactSynonym "UBQLN4", "ataxin-1 ubiquitin-like interacting protein", "chromosome 1 open reading frame 6", @@ -205640,7 +212643,9 @@ OMIM:605440 a owl:Class ; "ubiquilin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56893 ; - skos:exactMatch HGNC_symbol:UBQLN4 ; + skos:exactMatch UMLS:C1540152, + HGNC:1237, + HGNC_symbol:UBQLN4 ; biolink:category biolink:Gene . OMIM:605441 a owl:Class ; @@ -205684,7 +212689,6 @@ OMIM:605441 a owl:Class ; PMID:8619847 ; RO:0002525 CHR:9606chr3q27.3 ; RO:0003303 OMIM:612556 ; - oboInOwl:hasDbXref UMLS:C1540187 ; oboInOwl:hasExactSynonym "ADIPOQ", "acdc", "acrp30", @@ -205695,7 +212699,9 @@ OMIM:605441 a owl:Class ; "gelatin-binding protein, 28-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9370 ; - skos:exactMatch HGNC_symbol:ADIPOQ ; + skos:exactMatch UMLS:C1540187, + HGNC:13633, + HGNC_symbol:ADIPOQ ; biolink:category biolink:Gene . OMIM:605442 a owl:Class ; @@ -205706,33 +212712,34 @@ OMIM:605442 a owl:Class ; PMID:24316715, PMID:24981863, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1424590 ; oboInOwl:hasExactSynonym "WTAP", "kiaa0105", "wt1-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9589 ; - skos:exactMatch HGNC_symbol:WTAP ; + skos:exactMatch UMLS:C1424590, + HGNC:16846, + HGNC_symbol:WTAP ; biolink:category biolink:Gene . OMIM:605443 a owl:Class ; rdfs:label "PCGEM1" ; IAO:0000142 PMID:11050243, PMID:23945587 ; - oboInOwl:hasDbXref UMLS:C1854269 ; oboInOwl:hasExactSynonym "PCGEM1", "pcgem1 prostate-specific transcript", "prostate-specific gene pcgem1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64002 ; - skos:exactMatch HGNC_symbol:PCGEM1 ; + skos:exactMatch UMLS:C1854269, + HGNC:30145, + HGNC_symbol:PCGEM1 ; biolink:category biolink:Gene . OMIM:605444 a owl:Class ; rdfs:label "RBMXL2" ; IAO:0000142 PMID:10958650, PMID:18562473 ; - oboInOwl:hasDbXref UMLS:C1854268 ; oboInOwl:hasExactSynonym "RBMXL2", "heterogeneous nuclear ribonucleoprotein g-t", "hnrnpgt", @@ -205740,15 +212747,15 @@ OMIM:605444 a owl:Class ; "rna-binding motif protein, 10 chromosome, like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27288 ; - skos:exactMatch HGNC_symbol:RBMXL2 ; + skos:exactMatch UMLS:C1854268, + HGNC:17886, + HGNC_symbol:RBMXL2 ; biolink:category biolink:Gene . OMIM:605445 a owl:Class ; rdfs:label "DLGAP1" ; IAO:0000142 PMID:9024696, PMID:9286858 ; - oboInOwl:hasDbXref UMLS:C1414067, - UMLS:C1854267 ; oboInOwl:hasExactSynonym "DLGAP1", "dap1", "discs large-associated protein 1", @@ -205758,7 +212765,10 @@ OMIM:605445 a owl:Class ; "sap90/psd95-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9229 ; - skos:exactMatch HGNC_symbol:DLGAP1 ; + skos:exactMatch UMLS:C1414067, + UMLS:C1854267, + HGNC:2905, + HGNC_symbol:DLGAP1 ; biolink:category biolink:Gene . OMIM:605446 a owl:Class ; @@ -205780,38 +212790,41 @@ OMIM:605446 a owl:Class ; PMID:24997176 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:613826 ; - oboInOwl:hasDbXref UMLS:C1421991 ; oboInOwl:hasExactSynonym "RPGRIP1", "retinitis pigmentosa gtpase regulator-interacting protein", "rpgr-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57096 ; - skos:exactMatch HGNC_symbol:RPGRIP1 ; + skos:exactMatch UMLS:C1421991, + HGNC:13436, + HGNC_symbol:RPGRIP1 ; biolink:category biolink:Gene . OMIM:605447 a owl:Class ; rdfs:label "SNHG32" ; IAO:0000142 PMID:8096093 ; - oboInOwl:hasDbXref UMLS:C1425994 ; oboInOwl:hasExactSynonym "SNHG32", "chromosome 6 open reading frame 48", "g8 protein", "small nucleolar RNA host gene 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50854 ; - skos:exactMatch HGNC_symbol:SNHG32 ; + skos:exactMatch UMLS:C1425994, + HGNC:19078, + HGNC_symbol:SNHG32 ; biolink:category biolink:Gene . OMIM:605448 a owl:Class ; rdfs:label "RUNDC3A" ; IAO:0000142 PMID:9523700 ; - oboInOwl:hasDbXref UMLS:C1854259 ; oboInOwl:hasExactSynonym "RUNDC3A", "rap2-interacting protein 8", "run domain-containing protein 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10900 ; - skos:exactMatch HGNC_symbol:RUNDC3A ; + skos:exactMatch UMLS:C1854259, + HGNC:16984, + HGNC_symbol:RUNDC3A ; biolink:category biolink:Gene . OMIM:605449 a owl:Class ; @@ -205819,13 +212832,14 @@ OMIM:605449 a owl:Class ; IAO:0000142 PMID:12042665, PMID:8307579, PMID:9480897 ; - oboInOwl:hasDbXref UMLS:C1415330 ; oboInOwl:hasExactSynonym "GSTA3", "glutathione s-transferase a3", "glutathione s-transferase, alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2940 ; - skos:exactMatch HGNC_symbol:GSTA3 ; + skos:exactMatch UMLS:C1415330, + HGNC:4628, + HGNC_symbol:GSTA3 ; biolink:category biolink:Gene . OMIM:605450 a owl:Class ; @@ -205834,13 +212848,14 @@ OMIM:605450 a owl:Class ; PMID:9461507, PMID:9480897, PMID:9820822 ; - oboInOwl:hasDbXref UMLS:C1415331 ; oboInOwl:hasExactSynonym "GSTA4", "glutathione s-transferase a4", "glutathione s-transferase, alpha-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2941 ; - skos:exactMatch HGNC_symbol:GSTA4 ; + skos:exactMatch UMLS:C1415331, + HGNC:4629, + HGNC_symbol:GSTA4 ; biolink:category biolink:Gene . OMIM:605451 a owl:Class ; @@ -205852,14 +212867,15 @@ OMIM:605451 a owl:Class ; PMID:18639460, PMID:19289496, PMID:9822598 ; - oboInOwl:hasDbXref UMLS:C1423944 ; oboInOwl:hasExactSynonym "PAK4", "kiaa1142", "p21 cdc42/rac1-activated kinase 4", "p21 protein-activated kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10298 ; - skos:exactMatch HGNC_symbol:PAK4 ; + skos:exactMatch UMLS:C1423944, + HGNC:16059, + HGNC_symbol:PAK4 ; biolink:category biolink:Gene . OMIM:605452 a owl:Class ; @@ -205880,13 +212896,14 @@ OMIM:605452 a owl:Class ; PMID:6123793 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:111600 ; - oboInOwl:hasDbXref UMLS:C1332001 ; oboInOwl:hasExactSynonym "ABCB6", "atp-binding cassette, subfamily b, member 6", "mitochondrial abc protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10058 ; - skos:exactMatch HGNC_symbol:ABCB6 ; + skos:exactMatch UMLS:C1332001, + HGNC:47, + HGNC_symbol:ABCB6 ; biolink:category biolink:Gene . OMIM:605453 a owl:Class ; @@ -205894,13 +212911,14 @@ OMIM:605453 a owl:Class ; IAO:0000142 PMID:10748049, PMID:30877195, PMID:8894702 ; - oboInOwl:hasDbXref UMLS:C1412075 ; oboInOwl:hasExactSynonym "ABCB9", "atp-binding cassette, subfamily b, member 9", "tap-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23457 ; - skos:exactMatch HGNC_symbol:ABCB9 ; + skos:exactMatch UMLS:C1412075, + HGNC:50, + HGNC_symbol:ABCB9 ; biolink:category biolink:Gene . OMIM:605454 a owl:Class ; @@ -205908,38 +212926,41 @@ OMIM:605454 a owl:Class ; IAO:0000142 PMID:10922475, PMID:19805291, PMID:7766993 ; - oboInOwl:hasDbXref UMLS:C1412069 ; oboInOwl:hasExactSynonym "ABCB10", "atp-binding cassette, subfamily b, member 10", "mitochondrial abc protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23456 ; - skos:exactMatch HGNC_symbol:ABCB10 ; + skos:exactMatch UMLS:C1412069, + HGNC:41, + HGNC_symbol:ABCB10 ; biolink:category biolink:Gene . OMIM:605455 a owl:Class ; rdfs:label "RAB26" ; IAO:0000142 PMID:11043516 ; - oboInOwl:hasDbXref UMLS:C1422520 ; oboInOwl:hasExactSynonym "RAB26", "ras-associated protein rab26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25837 ; - skos:exactMatch HGNC_symbol:RAB26 ; + skos:exactMatch UMLS:C1422520, + HGNC:14259, + HGNC_symbol:RAB26 ; biolink:category biolink:Gene . OMIM:605456 a owl:Class ; rdfs:label "BET1" ; IAO:0000142 PMID:8621431, PMID:9382863 ; - oboInOwl:hasDbXref UMLS:C1422759 ; oboInOwl:hasExactSynonym "BET1", "bet1 golgi vesicular membrane-trafficking protein", "bet1, s. cerevisiae, homolog of", "golgi vesicular membrane-trafficking protein p18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10282 ; - skos:exactMatch HGNC_symbol:BET1 ; + skos:exactMatch UMLS:C1422759, + HGNC:14562, + HGNC_symbol:BET1 ; biolink:category biolink:Gene . OMIM:605457 a owl:Class ; @@ -205949,13 +212970,14 @@ OMIM:605457 a owl:Class ; PMID:11706020, PMID:15308104, PMID:20971950 ; - oboInOwl:hasDbXref UMLS:C1422150 ; oboInOwl:hasExactSynonym "IL22RA1", "il22r1", "interleukin 22 receptor, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58985 ; - skos:exactMatch HGNC_symbol:IL22RA1 ; + skos:exactMatch UMLS:C1422150, + HGNC:13700, + HGNC_symbol:IL22RA1 ; biolink:category biolink:Gene . OMIM:605458 a owl:Class ; @@ -205964,14 +212986,15 @@ OMIM:605458 a owl:Class ; PMID:10815801, PMID:11058597, PMID:23355738 ; - oboInOwl:hasDbXref UMLS:C1425241 ; oboInOwl:hasExactSynonym "IL17RB", "interleukin 17 receptor B", "interleukin 17 receptor homolog 1", "interleukin 17b receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55540 ; - skos:exactMatch HGNC_symbol:IL17RB ; + skos:exactMatch UMLS:C1425241, + HGNC:18015, + HGNC_symbol:IL17RB ; biolink:category biolink:Gene . OMIM:605459 a owl:Class ; @@ -205995,14 +213018,15 @@ OMIM:605459 a owl:Class ; PMID:9727073 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:618666 ; - oboInOwl:hasDbXref UMLS:C1422255, - UMLS:C5231453 ; oboInOwl:hasExactSynonym "ABCG5", "atp-binding cassette, subfamily g, member 5", "sterolin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64240 ; - skos:exactMatch HGNC_symbol:ABCG5 ; + skos:exactMatch UMLS:C1422255, + UMLS:C5231453, + HGNC:13886, + HGNC_symbol:ABCG5 ; biolink:category biolink:Gene . OMIM:605460 a owl:Class ; @@ -206024,15 +213048,16 @@ OMIM:605460 a owl:Class ; PMID:6110091 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:611465 ; - oboInOwl:hasDbXref UMLS:C1422256, - UMLS:C1969115, - UMLS:C5231390 ; oboInOwl:hasExactSynonym "ABCG8", "atp-binding cassette, subfamily g, member 8", "sterolin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64241 ; - skos:exactMatch HGNC_symbol:ABCG8 ; + skos:exactMatch UMLS:C1422256, + UMLS:C1969115, + UMLS:C5231390, + HGNC:13887, + HGNC_symbol:ABCG8 ; biolink:category biolink:Gene . OMIM:605461 a owl:Class ; @@ -206051,13 +213076,14 @@ OMIM:605461 a owl:Class ; PMID:9367539 ; RO:0002525 CHR:9606chr22q11.1 ; RO:0003303 OMIM:613953 ; - oboInOwl:hasDbXref UMLS:C1825593 ; oboInOwl:hasExactSynonym "IL17RA", "il17r", "interleukin 17 receptor a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23765 ; - skos:exactMatch HGNC_symbol:IL17RA ; + skos:exactMatch UMLS:C1825593, + HGNC:5985, + HGNC_symbol:IL17RA ; biolink:category biolink:Gene . OMIM:605464 a owl:Class ; @@ -206065,54 +213091,58 @@ OMIM:605464 a owl:Class ; IAO:0000142 PMID:31435016, PMID:8894702, PMID:9878413 ; - oboInOwl:hasDbXref UMLS:C1412074 ; oboInOwl:hasExactSynonym "ABCB8", "atp-binding cassette, subfamily b, member 8", "mitochondrial atp-binding cassette 1", "mitosur" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11194 ; - skos:exactMatch HGNC_symbol:ABCB8 ; + skos:exactMatch UMLS:C1412074, + HGNC:49, + HGNC_symbol:ABCB8 ; biolink:category biolink:Gene . OMIM:605465 a owl:Class ; rdfs:label "ZNF277" ; IAO:0000142 PMID:10860669, PMID:24518835 ; - oboInOwl:hasDbXref UMLS:C1823968 ; oboInOwl:hasExactSynonym "ZNF277", "zinc finger protein 277" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11179 ; - skos:exactMatch HGNC_symbol:ZNF277 ; + skos:exactMatch UMLS:C1823968, + HGNC:13070, + HGNC_symbol:ZNF277 ; biolink:category biolink:Gene . OMIM:605466 a owl:Class ; rdfs:label "SIRPG" ; IAO:0000142 PMID:11185750, PMID:15294972 ; - oboInOwl:hasDbXref UMLS:C1822728 ; oboInOwl:hasExactSynonym "SIRPG", "signal regulatory protein, beta-2", "signal regulatory protein, gamma", "sirp-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55423 ; - skos:exactMatch HGNC_symbol:SIRPG ; + skos:exactMatch UMLS:C1822728, + HGNC:15757, + HGNC_symbol:SIRPG ; biolink:category biolink:Gene . OMIM:605467 a owl:Class ; rdfs:label "ZNF274" ; IAO:0000142 PMID:10777669 ; - oboInOwl:hasDbXref UMLS:C1421760, - UMLS:C1854242 ; oboInOwl:hasExactSynonym "ZNF274", "zinc finger protein 274", "zinc finger protein 274, isoform B", "zinc finger protein 274, isoform a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10782 ; - skos:exactMatch HGNC_symbol:ZNF274 ; + skos:exactMatch UMLS:C1421760, + UMLS:C1854242, + HGNC:13068, + HGNC_symbol:ZNF274 ; biolink:category biolink:Gene . OMIM:605468 a owl:Class ; @@ -206120,14 +213150,15 @@ OMIM:605468 a owl:Class ; IAO:0000142 PMID:10490598, PMID:11035016, PMID:11185749 ; - oboInOwl:hasDbXref UMLS:C1424779 ; oboInOwl:hasExactSynonym "CDC42EP4", "binder of rho gtpases 4", "cdc42 effector protein 4", "cep4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23580 ; - skos:exactMatch HGNC_symbol:CDC42EP4 ; + skos:exactMatch UMLS:C1424779, + HGNC:17147, + HGNC_symbol:CDC42EP4 ; biolink:category biolink:Gene . OMIM:605469 a owl:Class ; @@ -206136,7 +213167,6 @@ OMIM:605469 a owl:Class ; PMID:15138608, PMID:16732293, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1424723 ; oboInOwl:hasExactSynonym "KDM4C", "gene amplified 1n squamous cell carcinoma 1", "jumonji domain-containing protein 2c", @@ -206145,7 +213175,9 @@ OMIM:605469 a owl:Class ; "lysine-specific demethylase 4c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23081 ; - skos:exactMatch HGNC_symbol:KDM4C ; + skos:exactMatch UMLS:C1424723, + HGNC:17071, + HGNC_symbol:KDM4C ; biolink:category biolink:Gene . OMIM:605470 a owl:Class ; @@ -206153,20 +213185,20 @@ OMIM:605470 a owl:Class ; IAO:0000142 PMID:10801841, PMID:10824119, PMID:10987280 ; - oboInOwl:hasDbXref UMLS:C1422510 ; oboInOwl:hasExactSynonym "MMP26", "matrilysin 2", "matrix metalloproteinase 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56547 ; - skos:exactMatch HGNC_symbol:MMP26 ; + skos:exactMatch UMLS:C1422510, + HGNC:14249, + HGNC_symbol:MMP26 ; biolink:category biolink:Gene . OMIM:605471 a owl:Class ; rdfs:label "ZFYVE1" ; IAO:0000142 PMID:11024279, PMID:11256955 ; - oboInOwl:hasDbXref UMLS:C1421862 ; oboInOwl:hasExactSynonym "ZFYVE1", "double fyve-containing protein 1", "tandem fyve fingers 1", @@ -206174,18 +213206,21 @@ OMIM:605471 a owl:Class ; "zinc finger protein, subfamily 2a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53349 ; - skos:exactMatch HGNC_symbol:ZFYVE1 ; + skos:exactMatch UMLS:C1421862, + HGNC:13180, + HGNC_symbol:ZFYVE1 ; biolink:category biolink:Gene . OMIM:605473 a owl:Class ; rdfs:label "UBQLN3" ; IAO:0000142 PMID:10831842 ; - oboInOwl:hasDbXref UMLS:C1421306 ; oboInOwl:hasExactSynonym "UBQLN3", "ubiquilin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50613 ; - skos:exactMatch HGNC_symbol:UBQLN3 ; + skos:exactMatch UMLS:C1421306, + HGNC:12510, + HGNC_symbol:UBQLN3 ; biolink:category biolink:Gene . OMIM:605474 a owl:Class ; @@ -206225,12 +213260,13 @@ OMIM:605474 a owl:Class ; PMID:29925955, PMID:31380807, PMID:32051584 ; - oboInOwl:hasDbXref UMLS:C1423633 ; oboInOwl:hasExactSynonym "TLR9", "toll-like receptor 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54106 ; - skos:exactMatch HGNC_symbol:TLR9 ; + skos:exactMatch UMLS:C1423633, + HGNC:15633, + HGNC_symbol:TLR9 ; biolink:category biolink:Gene . OMIM:605475 a owl:Class ; @@ -206240,13 +213276,14 @@ OMIM:605475 a owl:Class ; PMID:11130076, PMID:14752106, PMID:8621681 ; - oboInOwl:hasDbXref UMLS:C1332378 ; oboInOwl:hasExactSynonym "BAIAP2", "bai1-associated protein 2", "insulin receptor substrate p53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10458 ; - skos:exactMatch HGNC_symbol:BAIAP2 ; + skos:exactMatch UMLS:C1332378, + HGNC:947, + HGNC_symbol:BAIAP2 ; biolink:category biolink:Gene . OMIM:605476 a owl:Class ; @@ -206259,7 +213296,6 @@ OMIM:605476 a owl:Class ; PMID:18374643, PMID:8724849, PMID:9192850 ; - oboInOwl:hasDbXref UMLS:C1424636 ; oboInOwl:hasExactSynonym "AGAP2", "arf gtpase-activating protein with gtpase domain, ankyrin repeat, and pleckstrin homology domain 2", "centaurin, gamma-1", @@ -206268,7 +213304,9 @@ OMIM:605476 a owl:Class ; "pi3k enhancer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116986 ; - skos:exactMatch HGNC_symbol:AGAP2 ; + skos:exactMatch UMLS:C1424636, + HGNC:16921, + HGNC_symbol:AGAP2 ; biolink:category biolink:Gene . OMIM:605477 a owl:Class ; @@ -206279,7 +213317,6 @@ OMIM:605477 a owl:Class ; PMID:9207241, PMID:9659915, PMID:9726964 ; - oboInOwl:hasDbXref UMLS:C1423613 ; oboInOwl:hasExactSynonym "ARHGEF7", "beta-pix", "cool1", @@ -206288,7 +213325,9 @@ OMIM:605477 a owl:Class ; "rho guanine nucleotide exchange factor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8874 ; - skos:exactMatch HGNC_symbol:ARHGEF7 ; + skos:exactMatch UMLS:C1423613, + HGNC:15607, + HGNC_symbol:ARHGEF7 ; biolink:category biolink:Gene . OMIM:605478 a owl:Class ; @@ -206298,23 +213337,24 @@ OMIM:605478 a owl:Class ; PMID:14993616, PMID:17398123, PMID:29072292 ; - oboInOwl:hasDbXref UMLS:C1822724 ; oboInOwl:hasExactSynonym "SIGIRR", "single immunoglobulin domain-containing il1r-related protein", "toll/il1r 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59307 ; - skos:exactMatch HGNC_symbol:SIGIRR ; + skos:exactMatch UMLS:C1822724, + HGNC:30575, + HGNC_symbol:SIGIRR ; biolink:category biolink:Gene . OMIM:605479 a owl:Class ; rdfs:label "cholestasis, benign recurrent intrahepatic, 2" ; IAO:0000142 PMID:15300568, PMID:16039748 ; - oboInOwl:hasDbXref UMLS:C2608083 ; oboInOwl:hasExactSynonym "BRIC2", "cholestasis, benign recurrent intrahepatic, 2" ; rdfs:subClassOf OMIMPS:243300 ; + skos:exactMatch UMLS:C2608083 ; biolink:category biolink:Disease . OMIM:605481 a owl:Class ; @@ -206343,14 +213383,15 @@ OMIM:605481 a owl:Class ; PMID:29643508 ; RO:0002525 CHR:9606chr1q31.3 ; RO:0003303 OMIM:608716 ; - oboInOwl:hasDbXref UMLS:C1425978 ; oboInOwl:hasExactSynonym "ASPM", "abnormal spindle-like, microcephaly-associated", "asp, drosophila, homolog of", "mcph5 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259266 ; - skos:exactMatch HGNC_symbol:ASPM ; + skos:exactMatch UMLS:C1425978, + HGNC:19048, + HGNC_symbol:ASPM ; biolink:category biolink:Gene . OMIM:605482 a owl:Class ; @@ -206359,12 +213400,13 @@ OMIM:605482 a owl:Class ; PMID:12618591, PMID:22219196, PMID:3898742 ; - oboInOwl:hasDbXref UMLS:C1421933 ; oboInOwl:hasExactSynonym "GSTO1", "glutathione s-transferase, omega-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9446 ; - skos:exactMatch HGNC_symbol:GSTO1 ; + skos:exactMatch UMLS:C1421933, + HGNC:13312, + HGNC_symbol:GSTO1 ; biolink:category biolink:Gene . OMIM:605483 a owl:Class ; @@ -206375,24 +213417,26 @@ OMIM:605483 a owl:Class ; PMID:23261302 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:612444 ; - oboInOwl:hasDbXref UMLS:C1425753 ; oboInOwl:hasExactSynonym "DNAI2", "dynein, axonemal, intermediate chain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64446 ; - skos:exactMatch HGNC_symbol:DNAI2 ; + skos:exactMatch UMLS:C1425753, + HGNC:18744, + HGNC_symbol:DNAI2 ; biolink:category biolink:Gene . OMIM:605484 a owl:Class ; rdfs:label "FCAMR" ; IAO:0000142 PMID:11062505, PMID:11779189 ; - oboInOwl:hasDbXref UMLS:C1825285 ; oboInOwl:hasExactSynonym "FCAMR", "fc fragment of iga and igm, receptor for" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83953 ; - skos:exactMatch HGNC_symbol:FCAMR ; + skos:exactMatch UMLS:C1825285, + HGNC:24692, + HGNC_symbol:FCAMR ; biolink:category biolink:Gene . OMIM:605485 a owl:Class ; @@ -206400,13 +213444,14 @@ OMIM:605485 a owl:Class ; IAO:0000142 PMID:9159129 ; RO:0002525 CHR:9606chr7p14.1 ; RO:0003303 OMIM:619389 ; - oboInOwl:hasDbXref UMLS:C1421466 ; oboInOwl:hasExactSynonym "VPS41", "vacuolar protein sorting 41, yeast, homolog of", "vps41 subunit of hops complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27072 ; - skos:exactMatch HGNC_symbol:VPS41 ; + skos:exactMatch UMLS:C1421466, + HGNC:12713, + HGNC_symbol:VPS41 ; biolink:category biolink:Gene . OMIM:605486 a owl:Class ; @@ -206419,14 +213464,15 @@ OMIM:605487 a owl:Class ; PMID:21164014, PMID:8120638, PMID:9653196 ; - oboInOwl:hasDbXref UMLS:C1854225 ; oboInOwl:hasExactSynonym "ARPP19", "camp-regulated phosphoprotein, 16-kd", "camp-regulated phosphoprotein, 19-kd", "cyclic amp-regulated phosphoprotein, 19-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10776 ; - skos:exactMatch HGNC_symbol:ARPP19 ; + skos:exactMatch UMLS:C1854225, + HGNC:16967, + HGNC_symbol:ARPP19 ; biolink:category biolink:Gene . OMIM:605488 a owl:Class ; @@ -206434,14 +213480,15 @@ OMIM:605488 a owl:Class ; IAO:0000142 PMID:15499021, PMID:29581509, PMID:8120638 ; - oboInOwl:hasDbXref UMLS:C2699119 ; oboInOwl:hasExactSynonym "ARPP21", "camp-regulated phosphoprotein, 21-kd", "cyclic amp-regulated phosphoprotein, 21-kd", "regulator of calmodulin signaling" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10777 ; - skos:exactMatch HGNC_symbol:ARPP21 ; + skos:exactMatch UMLS:C2699119, + HGNC:16968, + HGNC_symbol:ARPP21 ; biolink:category biolink:Gene . OMIM:605489 a owl:Class ; @@ -206453,7 +213500,6 @@ OMIM:605489 a owl:Class ; PMID:9187371 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:617895 ; - oboInOwl:hasDbXref UMLS:C1825571 ; oboInOwl:hasExactSynonym "IFT81", "carnitine deficiency-associated gene expressed 1n ventricle 1", "cdv1-related", @@ -206461,7 +213507,9 @@ OMIM:605489 a owl:Class ; "intraflagellar transport 81, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28981 ; - skos:exactMatch HGNC_symbol:IFT81 ; + skos:exactMatch UMLS:C1825571, + HGNC:14313, + HGNC_symbol:IFT81 ; biolink:category biolink:Gene . OMIM:605490 a owl:Class ; @@ -206474,14 +213522,15 @@ OMIM:605490 a owl:Class ; PMID:8666383 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:600373 ; - oboInOwl:hasDbXref UMLS:C1825868 ; oboInOwl:hasExactSynonym "LONP1", "lon peptidase 1, mitochondrial", "lon, e. coli, homolog of", "protease, serine, 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9361 ; - skos:exactMatch HGNC_symbol:LONP1 ; + skos:exactMatch UMLS:C1825868, + HGNC:9479, + HGNC_symbol:LONP1 ; biolink:category biolink:Gene . OMIM:605491 a owl:Class ; @@ -206490,19 +213539,19 @@ OMIM:605491 a owl:Class ; PMID:12504851, PMID:15004028, PMID:9733644 ; - oboInOwl:hasDbXref UMLS:C1538053 ; oboInOwl:hasExactSynonym "NEBL", "lim-nebulette", "nebulette" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10529 ; - skos:exactMatch HGNC_symbol:NEBL ; + skos:exactMatch UMLS:C1538053, + HGNC:16932, + HGNC_symbol:NEBL ; biolink:category biolink:Gene . OMIM:605492 a owl:Class ; rdfs:label "LRRN2" ; IAO:0000142 PMID:9662332 ; - oboInOwl:hasDbXref UMLS:C1424631 ; oboInOwl:hasExactSynonym "LRRN2", "glioma amplification on chromosome 1", "leucine-rich and ankyrin repeats 1", @@ -206510,7 +213559,9 @@ OMIM:605492 a owl:Class ; "leucine-rich repeat protein, neuronal, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10446 ; - skos:exactMatch HGNC_symbol:LRRN2 ; + skos:exactMatch UMLS:C1424631, + HGNC:16914, + HGNC_symbol:LRRN2 ; biolink:category biolink:Gene . OMIM:605493 a owl:Class ; @@ -206519,14 +213570,15 @@ OMIM:605493 a owl:Class ; PMID:10673389, PMID:11170753, PMID:20543135 ; - oboInOwl:hasDbXref UMLS:C1419422 ; oboInOwl:hasExactSynonym "TRIM3", "brain-expressed ring finger", "ring finger protein 22", "tripartite motif-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10612 ; - skos:exactMatch HGNC_symbol:TRIM3 ; + skos:exactMatch UMLS:C1419422, + HGNC:10064, + HGNC_symbol:TRIM3 ; biolink:category biolink:Gene . OMIM:605494 a owl:Class ; @@ -206536,7 +213588,6 @@ OMIM:605494 a owl:Class ; PMID:15082778, PMID:16622420, PMID:7593198 ; - oboInOwl:hasDbXref UMLS:C1416499 ; oboInOwl:hasExactSynonym "ITGB3BP", "centromeric protein r", "endonexin, beta-3", @@ -206545,7 +213596,9 @@ OMIM:605494 a owl:Class ; "nuclear receptor-interacting factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23421 ; - skos:exactMatch HGNC_symbol:ITGB3BP ; + skos:exactMatch UMLS:C1416499, + HGNC:6157, + HGNC_symbol:ITGB3BP ; biolink:category biolink:Gene . OMIM:605495 a owl:Class ; @@ -206555,7 +213608,6 @@ OMIM:605495 a owl:Class ; PMID:22232210 ; RO:0002525 CHR:9606chr12p12.2 ; RO:0003303 OMIM:237450 ; - oboInOwl:hasDbXref UMLS:C1420132 ; oboInOwl:hasExactSynonym "SLCO1B3", "organic anion transporter 1b3", "organic anion transporter 8", @@ -206563,7 +213615,9 @@ OMIM:605495 a owl:Class ; "solute carrier organic anion transporter family, member 1b3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28234 ; - skos:exactMatch HGNC_symbol:SLCO1B3 ; + skos:exactMatch UMLS:C1420132, + HGNC:10961, + HGNC_symbol:SLCO1B3 ; biolink:category biolink:Gene . OMIM:605496 a owl:Class ; @@ -206571,8 +213625,6 @@ OMIM:605496 a owl:Class ; IAO:0000142 PMID:10688839, PMID:10965126, PMID:11956314 ; - oboInOwl:hasDbXref UMLS:C1824717, - UMLS:C3274869 ; oboInOwl:hasExactSynonym "CEP1", "centrosomal protein 1", "cep1/fgfr1 fusion gene", @@ -206580,7 +213632,10 @@ OMIM:605496 a owl:Class ; "fan" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11064 ; - skos:exactMatch HGNC_symbol:CNTRL ; + skos:exactMatch UMLS:C1824717, + UMLS:C3274869, + HGNC:1858, + HGNC_symbol:CNTRL ; biolink:category biolink:Gene . OMIM:605497 a owl:Class ; @@ -206597,14 +213652,15 @@ OMIM:605497 a owl:Class ; PMID:9217321 ; RO:0002525 CHR:9606chr3p22.3 ; RO:0003303 OMIM:610682 ; - oboInOwl:hasDbXref UMLS:C1413720 ; oboInOwl:hasExactSynonym "CRTAP", "cartilage-associated protein", "casp", "leprecan-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10491 ; - skos:exactMatch HGNC_symbol:CRTAP ; + skos:exactMatch UMLS:C1413720, + HGNC:2379, + HGNC_symbol:CRTAP ; biolink:category biolink:Gene . OMIM:605498 a owl:Class ; @@ -206612,47 +213668,50 @@ OMIM:605498 a owl:Class ; IAO:0000142 PMID:11470801, PMID:8290587, PMID:8885239 ; - oboInOwl:hasDbXref UMLS:C1417240 ; oboInOwl:hasExactSynonym "MPHOSPH1", "kinesin-related motor interacting with pin1", "m-phase phosphoprotein 1", "mpp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9585 ; - skos:exactMatch HGNC_symbol:KIF20B ; + skos:exactMatch UMLS:C1417240, + HGNC:7212, + HGNC_symbol:KIF20B ; biolink:category biolink:Gene . OMIM:605499 a owl:Class ; rdfs:label "zw10 interactor, antisense" ; IAO:0000142 PMID:8885239 ; - oboInOwl:hasDbXref UMLS:C1421870 ; oboInOwl:hasExactSynonym "ZWINTAS", "m-phase phosphoprotein 5", - "zw10 interactor, antisense" . + "zw10 interactor, antisense" ; + skos:exactMatch UMLS:C1421870 . OMIM:605500 a owl:Class ; rdfs:label "MPHOSPH6" ; IAO:0000142 PMID:11719186, PMID:8885239 ; - oboInOwl:hasDbXref UMLS:C1417242 ; oboInOwl:hasExactSynonym "MPHOSPH6", "m-phase phosphoprotein 6", "mpp6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10200 ; - skos:exactMatch HGNC_symbol:MPHOSPH6 ; + skos:exactMatch UMLS:C1417242, + HGNC:7214, + HGNC_symbol:MPHOSPH6 ; biolink:category biolink:Gene . OMIM:605501 a owl:Class ; rdfs:label "MPHOSPH9" ; IAO:0000142 PMID:8885239 ; - oboInOwl:hasDbXref UMLS:C1417243 ; oboInOwl:hasExactSynonym "MPHOSPH9", "m-phase phosphoprotein 9", "mpp9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10198 ; - skos:exactMatch HGNC_symbol:MPHOSPH9 ; + skos:exactMatch UMLS:C1417243, + HGNC:7215, + HGNC_symbol:MPHOSPH9 ; biolink:category biolink:Gene . OMIM:605502 a owl:Class ; @@ -206662,54 +213721,58 @@ OMIM:605502 a owl:Class ; PMID:21179169, PMID:8885239, PMID:9707440 ; - oboInOwl:hasDbXref UMLS:C1421867 ; oboInOwl:hasExactSynonym "DNAJC2", "dnaj/hsp40 homolog, subfamily c, member 2", "m-phase phosphoprotein 11", "zuotin-related factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27000 ; - skos:exactMatch HGNC_symbol:DNAJC2 ; + skos:exactMatch UMLS:C1421867, + HGNC:13192, + HGNC_symbol:DNAJC2 ; biolink:category biolink:Gene . OMIM:605503 a owl:Class ; rdfs:label "MPHOSPH10" ; IAO:0000142 PMID:8885239, PMID:9450966 ; - oboInOwl:hasDbXref UMLS:C1417241 ; oboInOwl:hasExactSynonym "MPHOSPH10", "m-phase phosphoprotein 10", "mpp10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10199 ; - skos:exactMatch HGNC_symbol:MPHOSPH10 ; + skos:exactMatch UMLS:C1417241, + HGNC:7213, + HGNC_symbol:MPHOSPH10 ; biolink:category biolink:Gene . OMIM:605504 a owl:Class ; rdfs:label "KLK9" ; IAO:0000142 PMID:10783266, PMID:11691797 ; - oboInOwl:hasDbXref UMLS:C1416680 ; oboInOwl:hasExactSynonym "KLK9", "kallikrein 9", "kallikrein-like 3", "kallikrein-related peptidase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284366 ; - skos:exactMatch HGNC_symbol:KLK9 ; + skos:exactMatch UMLS:C1416680, + HGNC:6370, + HGNC_symbol:KLK9 ; biolink:category biolink:Gene . OMIM:605505 a owl:Class ; rdfs:label "KLK13" ; IAO:0000142 PMID:10766816 ; - oboInOwl:hasDbXref UMLS:C1416673 ; oboInOwl:hasExactSynonym "KLK13", "kallikrein 13", "kallikrein-like 4", "kallikrein-related peptidase 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26085 ; - skos:exactMatch HGNC_symbol:KLK13 ; + skos:exactMatch UMLS:C1416673, + HGNC:6361, + HGNC_symbol:KLK13 ; biolink:category biolink:Gene . OMIM:605506 a owl:Class ; @@ -206717,7 +213780,6 @@ OMIM:605506 a owl:Class ; IAO:0000142 PMID:11102511, PMID:19531583, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1823638 ; oboInOwl:hasExactSynonym "VPS26A", "hb58, mouse, homolog of", "vacuolar protein sorting 26, yeast, homolog of, a", @@ -206725,7 +213787,9 @@ OMIM:605506 a owl:Class ; "vps26 retromer complex component a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9559 ; - skos:exactMatch HGNC_symbol:VPS26A ; + skos:exactMatch UMLS:C1823638, + HGNC:12711, + HGNC_symbol:VPS26A ; biolink:category biolink:Gene . OMIM:605507 a owl:Class ; @@ -206747,8 +213811,6 @@ OMIM:605507 a owl:Class ; PMID:28887889 ; RO:0002525 CHR:9606chr2q14.1 ; RO:0003303 OMIM:614204 ; - oboInOwl:hasDbXref UMLS:C1423573, - UMLS:C4759670 ; oboInOwl:hasExactSynonym "IL36RN", "family of interleukin 1-delta", "fil1-delta", @@ -206758,7 +213820,10 @@ OMIM:605507 a owl:Class ; "interleukin 36 receptor antagonist" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26525 ; - skos:exactMatch HGNC_symbol:IL36RN ; + skos:exactMatch UMLS:C1423573, + UMLS:C4759670, + HGNC:15561, + HGNC_symbol:IL36RN ; biolink:category biolink:Gene . OMIM:605508 a owl:Class ; @@ -206767,7 +213832,6 @@ OMIM:605508 a owl:Class ; PMID:10744718, PMID:11991722, PMID:21242515 ; - oboInOwl:hasDbXref UMLS:C1423576 ; oboInOwl:hasExactSynonym "IL36B", "family of interleukin 1-eta", "fil1-eta", @@ -206777,7 +213841,9 @@ OMIM:605508 a owl:Class ; "interleukin 36, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27177 ; - skos:exactMatch HGNC_symbol:IL36B ; + skos:exactMatch UMLS:C1423576, + HGNC:15564, + HGNC_symbol:IL36B ; biolink:category biolink:Gene . OMIM:605509 a owl:Class ; @@ -206785,7 +213851,6 @@ OMIM:605509 a owl:Class ; IAO:0000142 PMID:10625660, PMID:11991722, PMID:21242515 ; - oboInOwl:hasDbXref UMLS:C1423574 ; oboInOwl:hasExactSynonym "IL36A", "family of interleukin 1-epsilon", "fil1-epsilon", @@ -206793,7 +213858,9 @@ OMIM:605509 a owl:Class ; "interleukin 36, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27179 ; - skos:exactMatch HGNC_symbol:IL36A ; + skos:exactMatch UMLS:C1423574, + HGNC:15562, + HGNC_symbol:IL36A ; biolink:category biolink:Gene . OMIM:605510 a owl:Class ; @@ -206805,7 +213872,6 @@ OMIM:605510 a owl:Class ; PMID:30006351 ; RO:0002525 CHR:9606chr2q14.1 ; RO:0003303 OMIM:619398 ; - oboInOwl:hasDbXref UMLS:C1423575 ; oboInOwl:hasExactSynonym "IL37", "family of interleukin 1-zeta", "fil1-zeta", @@ -206815,7 +213881,9 @@ OMIM:605510 a owl:Class ; "interleukin 37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27178 ; - skos:exactMatch HGNC_symbol:IL37 ; + skos:exactMatch UMLS:C1423575, + HGNC:15563, + HGNC_symbol:IL37 ; biolink:category biolink:Gene . OMIM:605511 a owl:Class ; @@ -206831,12 +213899,13 @@ OMIM:605511 a owl:Class ; PMID:23255163 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:601072 ; - oboInOwl:hasDbXref UMLS:C1420784 ; oboInOwl:hasExactSynonym "TMPRSS3", "transmembrane protease, serine 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64699 ; - skos:exactMatch HGNC_symbol:TMPRSS3 ; + skos:exactMatch UMLS:C1420784, + HGNC:11877, + HGNC_symbol:TMPRSS3 ; biolink:category biolink:Gene . OMIM:605512 a owl:Class ; @@ -206858,12 +213927,13 @@ OMIM:605512 a owl:Class ; PMID:5048218 ; RO:0002525 CHR:9606chr6q14.1 ; RO:0003303 OMIM:600110 ; - oboInOwl:hasDbXref UMLS:C1422632 ; oboInOwl:hasExactSynonym "ELOVL4", "elongation of very long chain fatty acids-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6785 ; - skos:exactMatch HGNC_symbol:ELOVL4 ; + skos:exactMatch UMLS:C1422632, + HGNC:14415, + HGNC_symbol:ELOVL4 ; biolink:category biolink:Gene . OMIM:605513 a owl:Class ; @@ -206872,13 +213942,14 @@ OMIM:605513 a owl:Class ; PMID:19717472, PMID:8006593, PMID:8170938 ; - oboInOwl:hasDbXref UMLS:C1334510 ; oboInOwl:hasExactSynonym "MLANA", "melan a", "melanoma antigen recognized by t cells 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2315 ; - skos:exactMatch HGNC_symbol:MLANA ; + skos:exactMatch UMLS:C1334510, + HGNC:7124, + HGNC_symbol:MLANA ; biolink:category biolink:Gene . OMIM:605514 a owl:Class ; @@ -206899,12 +213970,13 @@ OMIM:605514 a owl:Class ; PMID:23135401 ; RO:0002525 CHR:9606chr10q21.1 ; RO:0003303 OMIM:602083 ; - oboInOwl:hasDbXref UMLS:C1422830 ; oboInOwl:hasExactSynonym "PCDH15", "protocadherin 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65217 ; - skos:exactMatch HGNC_symbol:PCDH15 ; + skos:exactMatch UMLS:C1422830, + HGNC:14674, + HGNC_symbol:PCDH15 ; biolink:category biolink:Gene . OMIM:605515 a owl:Class ; @@ -206927,13 +213999,14 @@ OMIM:605515 a owl:Class ; PMID:8265594 ; RO:0002525 CHR:9606chr3p13 ; RO:0003303 OMIM:613670 ; - oboInOwl:hasDbXref UMLS:C1414688 ; oboInOwl:hasExactSynonym "FOXP1", "forkhead box p1", "glutamine-rich factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27086 ; - skos:exactMatch HGNC_symbol:FOXP1 ; + skos:exactMatch UMLS:C1414688, + HGNC:3823, + HGNC_symbol:FOXP1 ; biolink:category biolink:Gene . OMIM:605516 a owl:Class ; @@ -206962,14 +214035,15 @@ OMIM:605516 a owl:Class ; PMID:28413019 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:617540 ; - oboInOwl:hasDbXref UMLS:C1422171 ; oboInOwl:hasExactSynonym "CDH23", "cadherin 23", "cadherin-related family, member 23", "otocadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64072 ; - skos:exactMatch HGNC_symbol:CDH23 ; + skos:exactMatch UMLS:C1422171, + HGNC:13733, + HGNC_symbol:CDH23 ; biolink:category biolink:Gene . OMIM:605517 a owl:Class ; @@ -206983,15 +214057,16 @@ OMIM:605517 a owl:Class ; PMID:9405606 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:615287 ; - oboInOwl:hasDbXref UMLS:C1423631, - UMLS:C3809042 ; oboInOwl:hasExactSynonym "B4GAT1", "beta-1,3-n-acetylglucosaminyltransferase 1", "beta-1,4-glucuronyltransferase 1", "i-beta-1,3-n-acetylglucosaminyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11041 ; - skos:exactMatch HGNC_symbol:B4GAT1 ; + skos:exactMatch UMLS:C1423631, + UMLS:C3809042, + HGNC:15685, + HGNC_symbol:B4GAT1 ; biolink:category biolink:Gene . OMIM:605518 a owl:Class ; @@ -207009,7 +214084,6 @@ OMIM:605518 a owl:Class ; PMID:8724849 ; RO:0002525 CHR:9606chr2p25.1 ; RO:0003303 OMIM:268200 ; - oboInOwl:hasDbXref UMLS:C1421944 ; oboInOwl:hasExactSynonym "LPIN1", "kiaa0188", "lipin 1", @@ -207017,7 +214091,9 @@ OMIM:605518 a owl:Class ; "phosphatidic acid phosphohydrolase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23175 ; - skos:exactMatch HGNC_symbol:LPIN1 ; + skos:exactMatch UMLS:C1421944, + HGNC:13345, + HGNC_symbol:LPIN1 ; biolink:category biolink:Gene . OMIM:605519 a owl:Class ; @@ -207031,24 +214107,26 @@ OMIM:605519 a owl:Class ; PMID:9039502 ; RO:0002525 CHR:9606chr18p11.31 ; RO:0003303 OMIM:609628 ; - oboInOwl:hasDbXref UMLS:C1422658 ; oboInOwl:hasExactSynonym "LPIN2", "lipin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9663 ; - skos:exactMatch HGNC_symbol:LPIN2 ; + skos:exactMatch UMLS:C1422658, + HGNC:14450, + HGNC_symbol:LPIN2 ; biolink:category biolink:Gene . OMIM:605520 a owl:Class ; rdfs:label "LPIN3" ; IAO:0000142 PMID:10884287, PMID:11138012 ; - oboInOwl:hasDbXref UMLS:C1422659 ; oboInOwl:hasExactSynonym "LPIN3", "lipin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64900 ; - skos:exactMatch HGNC_symbol:LPIN3 ; + skos:exactMatch UMLS:C1422659, + HGNC:14451, + HGNC_symbol:LPIN3 ; biolink:category biolink:Gene . OMIM:605521 a owl:Class ; @@ -207059,7 +214137,6 @@ OMIM:605521 a owl:Class ; PMID:11352070, PMID:11463376, PMID:9889269 ; - oboInOwl:hasDbXref UMLS:C1336594 ; oboInOwl:hasExactSynonym "TBPL1", "tata box-binding protein-like protein 1", "tbp-like factor", @@ -207068,7 +214145,9 @@ OMIM:605521 a owl:Class ; "tlp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9519 ; - skos:exactMatch HGNC_symbol:TBPL1 ; + skos:exactMatch UMLS:C1336594, + HGNC:11589, + HGNC_symbol:TBPL1 ; biolink:category biolink:Gene . OMIM:605522 a owl:Class ; @@ -207101,7 +214180,6 @@ OMIM:605522 a owl:Class ; PMID:9950363 ; RO:0002525 CHR:9606chr7q36.3 ; RO:0003303 OMIM:174500 ; - oboInOwl:hasDbXref UMLS:C1825862 ; oboInOwl:hasExactSynonym "LMBR1", "chromosome 7 open reading frame 2", "limb development membrane protein 1", @@ -207109,7 +214187,9 @@ OMIM:605522 a owl:Class ; "zpa regulatory sequence" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64327 ; - skos:exactMatch HGNC_symbol:LMBR1 ; + skos:exactMatch UMLS:C1825862, + HGNC:13243, + HGNC_symbol:LMBR1 ; biolink:category biolink:Gene . OMIM:605523 a owl:Class ; @@ -207119,13 +214199,14 @@ OMIM:605523 a owl:Class ; PMID:16890162, PMID:23797093, PMID:8632892 ; - oboInOwl:hasDbXref UMLS:C1420851 ; oboInOwl:hasExactSynonym "TOB1", "tob", "transducer of erbb2, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10140 ; - skos:exactMatch HGNC_symbol:TOB1 ; + skos:exactMatch UMLS:C1420851, + HGNC:11979, + HGNC_symbol:TOB1 ; biolink:category biolink:Gene . OMIM:605524 a owl:Class ; @@ -207145,37 +214226,40 @@ OMIM:605525 a owl:Class ; PMID:22645314 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:613804 ; - oboInOwl:hasDbXref UMLS:C1332742 ; oboInOwl:hasExactSynonym "CDT1", "chromatin licensing and DNA replication factor 1", "double parked, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81620 ; - skos:exactMatch HGNC_symbol:CDT1 ; + skos:exactMatch UMLS:C1332742, + HGNC:24576, + HGNC_symbol:CDT1 ; biolink:category biolink:Gene . OMIM:605527 a owl:Class ; rdfs:label "MAT2B" ; IAO:0000142 PMID:10644686 ; - oboInOwl:hasDbXref UMLS:C1417040 ; oboInOwl:hasExactSynonym "MAT2B", "methionine adenosyltransferase ii, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27430 ; - skos:exactMatch HGNC_symbol:MAT2B ; + skos:exactMatch UMLS:C1417040, + HGNC:6905, + HGNC_symbol:MAT2B ; biolink:category biolink:Gene . OMIM:605528 a owl:Class ; rdfs:label "NEU2" ; IAO:0000142 PMID:10191093 ; - oboInOwl:hasDbXref UMLS:C1417681 ; oboInOwl:hasExactSynonym "NEU2", "neuraminidase 2", "sialidase 2", "sialidase, cytosolic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4759 ; - skos:exactMatch HGNC_symbol:NEU2 ; + skos:exactMatch UMLS:C1417681, + HGNC:7759, + HGNC_symbol:NEU2 ; biolink:category biolink:Gene . OMIM:605529 a owl:Class ; @@ -207186,14 +214270,15 @@ OMIM:605529 a owl:Class ; PMID:12228722, PMID:23376982, PMID:31585809 ; - oboInOwl:hasDbXref UMLS:C1425133 ; oboInOwl:hasExactSynonym "UPF2", "regulator of nonsense transcripts 2", "upf2 regulator of nonsense-mediated mrna decay", "upf2, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26019 ; - skos:exactMatch HGNC_symbol:UPF2 ; + skos:exactMatch UMLS:C1425133, + HGNC:17854, + HGNC_symbol:UPF2 ; biolink:category biolink:Gene . OMIM:605530 a owl:Class ; @@ -207205,7 +214290,6 @@ OMIM:605530 a owl:Class ; PMID:19503078, PMID:30944473, PMID:30962551 ; - oboInOwl:hasDbXref UMLS:C1426867 ; oboInOwl:hasExactSynonym "UPF3A", "regulator of nonsense transcripts 3a", "upf3", @@ -207213,7 +214297,9 @@ OMIM:605530 a owl:Class ; "upf3a regulator of nonsense-mediated mrna decay" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65110 ; - skos:exactMatch HGNC_symbol:UPF3A ; + skos:exactMatch UMLS:C1426867, + HGNC:20332, + HGNC_symbol:UPF3A ; biolink:category biolink:Gene . OMIM:605531 a owl:Class ; @@ -207228,13 +214314,14 @@ OMIM:605532 a owl:Class ; PMID:14755250, PMID:15574587, PMID:22231558 ; - oboInOwl:hasDbXref UMLS:C1539797 ; oboInOwl:hasExactSynonym "SMURF2", "smad ubiquitination regulatory factor 2", "smad-specific e3 ubiquitin protein ligase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64750 ; - skos:exactMatch HGNC_symbol:SMURF2 ; + skos:exactMatch UMLS:C1539797, + HGNC:16809, + HGNC_symbol:SMURF2 ; biolink:category biolink:Gene . OMIM:605533 a owl:Class ; @@ -207243,23 +214330,25 @@ OMIM:605533 a owl:Class ; PMID:20448178, PMID:20713722, PMID:9275162 ; - oboInOwl:hasDbXref UMLS:C1334903 ; oboInOwl:hasExactSynonym "NRG3", "neuregulin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10718 ; - skos:exactMatch HGNC_symbol:NRG3 ; + skos:exactMatch UMLS:C1334903, + HGNC:7999, + HGNC_symbol:NRG3 ; biolink:category biolink:Gene . OMIM:605534 a owl:Class ; rdfs:label "HMG20A" ; IAO:0000142 PMID:10773667 ; - oboInOwl:hasDbXref UMLS:C1415611 ; oboInOwl:hasExactSynonym "HMG20A", "high mobility group protein 20a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10363 ; - skos:exactMatch HGNC_symbol:HMG20A ; + skos:exactMatch UMLS:C1415611, + HGNC:5001, + HGNC_symbol:HMG20A ; biolink:category biolink:Gene . OMIM:605536 a owl:Class ; @@ -207267,14 +214356,15 @@ OMIM:605536 a owl:Class ; IAO:0000142 PMID:10048485, PMID:11163216, PMID:11495908 ; - oboInOwl:hasDbXref UMLS:C1538768 ; oboInOwl:hasExactSynonym "RAB11FIP5", "kiaa0857", "rab11 family-interacting protein 5", "rab11-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26056 ; - skos:exactMatch HGNC_symbol:RAB11FIP5 ; + skos:exactMatch UMLS:C1538768, + HGNC:24845, + HGNC_symbol:RAB11FIP5 ; biolink:category biolink:Gene . OMIM:605537 a owl:Class ; @@ -207295,13 +214385,14 @@ OMIM:605537 a owl:Class ; PMID:9837962 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:616517 ; - oboInOwl:hasDbXref UMLS:C1412622 ; oboInOwl:hasExactSynonym "ATF6", "activating transcription factor 6", "activating transcription factor 6, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22926 ; - skos:exactMatch HGNC_symbol:ATF6 ; + skos:exactMatch UMLS:C1412622, + HGNC:791, + HGNC_symbol:ATF6 ; biolink:category biolink:Gene . OMIM:605538 a owl:Class ; @@ -207309,12 +214400,13 @@ OMIM:605538 a owl:Class ; IAO:0000142 PMID:23109725, PMID:8647296, PMID:9851594 ; - oboInOwl:hasDbXref UMLS:C1417871 ; oboInOwl:hasExactSynonym "NTSR2", "neurotensin receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23620 ; - skos:exactMatch HGNC_symbol:NTSR2 ; + skos:exactMatch UMLS:C1417871, + HGNC:8040, + HGNC_symbol:NTSR2 ; biolink:category biolink:Gene . OMIM:605539 a owl:Class ; @@ -207322,14 +214414,15 @@ OMIM:605539 a owl:Class ; IAO:0000142 PMID:10969073, PMID:11056051, PMID:16829021 ; - oboInOwl:hasDbXref UMLS:C1416672 ; oboInOwl:hasExactSynonym "KLK12", "kallikrein 12", "kallikrein-like 5", "kallikrein-related peptidase 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:43849 ; - skos:exactMatch HGNC_symbol:KLK12 ; + skos:exactMatch UMLS:C1416672, + HGNC:6360, + HGNC_symbol:KLK12 ; biolink:category biolink:Gene . OMIM:605540 a owl:Class ; @@ -207337,7 +214430,6 @@ OMIM:605540 a owl:Class ; IAO:0000142 PMID:10066793, PMID:21478871, PMID:30026317 ; - oboInOwl:hasDbXref UMLS:C1428996 ; oboInOwl:hasExactSynonym "TENT4B", "gld4", "pap-associated domain-containing protein 5", @@ -207347,7 +214439,9 @@ OMIM:605540 a owl:Class ; "tutase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64282 ; - skos:exactMatch HGNC_symbol:TENT4B ; + skos:exactMatch UMLS:C1428996, + HGNC:30758, + HGNC_symbol:TENT4B ; biolink:category biolink:Gene . OMIM:605541 a owl:Class ; @@ -207359,13 +214453,15 @@ OMIM:605541 a owl:Class ; PMID:15711558, PMID:16767097, PMID:19147786 ; - oboInOwl:hasDbXref UMLS:C1336927 ; oboInOwl:hasExactSynonym "VAV3", "oncogene vav3", + "vav guanine nucleotide exchange factor 3", "vav3 oncogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10451 ; - skos:exactMatch HGNC_symbol:VAV3 ; + skos:exactMatch UMLS:C1336927, + HGNC:12659, + HGNC_symbol:VAV3 ; biolink:category biolink:Gene . OMIM:605542 a owl:Class ; @@ -207375,7 +214471,6 @@ OMIM:605542 a owl:Class ; PMID:11991722, PMID:21242515, PMID:26590314 ; - oboInOwl:hasDbXref UMLS:C1423696 ; oboInOwl:hasExactSynonym "IL36G", "interleukin 1 family, member 9", "interleukin 1 homolog 1", @@ -207383,7 +214478,9 @@ OMIM:605542 a owl:Class ; "interleukin 36, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56300 ; - skos:exactMatch HGNC_symbol:IL36G ; + skos:exactMatch UMLS:C1423696, + HGNC:15741, + HGNC_symbol:IL36G ; biolink:category biolink:Gene . OMIM:605545 a owl:Class ; @@ -207394,13 +214491,14 @@ OMIM:605545 a owl:Class ; PMID:17353345, PMID:18849484, PMID:8370408 ; - oboInOwl:hasDbXref UMLS:C1413204 ; oboInOwl:hasExactSynonym "CD163", "cd163 antigen", "hemoglobin scavenger receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9332 ; - skos:exactMatch HGNC_symbol:CD163 ; + skos:exactMatch UMLS:C1413204, + HGNC:1631, + HGNC_symbol:CD163 ; biolink:category biolink:Gene . OMIM:605546 a owl:Class ; @@ -207414,14 +214512,15 @@ OMIM:605546 a owl:Class ; PMID:20110505 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:614201 ; - oboInOwl:hasDbXref UMLS:C1422611 ; oboInOwl:hasExactSynonym "GP6", "glycoprotein vi, platelet", "gp 6", "platelet glycoprotein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51206 ; - skos:exactMatch HGNC_symbol:GP6 ; + skos:exactMatch UMLS:C1422611, + HGNC:14388, + HGNC_symbol:GP6 ; biolink:category biolink:Gene . OMIM:605547 a owl:Class ; @@ -207433,8 +214532,6 @@ OMIM:605547 a owl:Class ; PMID:7901004, PMID:7957230, PMID:9786430 ; - oboInOwl:hasDbXref UMLS:C1414831, - UMLS:C1537834 ; oboInOwl:hasExactSynonym "FSTL1", "follistatin-like 1", "follistatin-related protein", @@ -207442,7 +214539,10 @@ OMIM:605547 a owl:Class ; "mirna198" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11167 ; - skos:exactMatch HGNC_symbol:FSTL1 ; + skos:exactMatch UMLS:C1414831, + UMLS:C1537834, + HGNC:3972, + HGNC_symbol:FSTL1 ; biolink:category biolink:Gene . OMIM:605548 a owl:Class ; @@ -207455,14 +214555,15 @@ OMIM:605548 a owl:Class ; PMID:9039960, PMID:9516430, PMID:9914169 ; - oboInOwl:hasDbXref UMLS:C1332017 ; oboInOwl:hasExactSynonym "ADAM15", "a disintegrin and metalloproteinase domain 15", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein 15", "metargidin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8751 ; - skos:exactMatch HGNC_symbol:ADAM15 ; + skos:exactMatch UMLS:C1332017, + HGNC:193, + HGNC_symbol:ADAM15 ; biolink:category biolink:Gene . OMIM:605550 a owl:Class ; @@ -207471,13 +214572,14 @@ OMIM:605550 a owl:Class ; PMID:11086993, PMID:15339652, PMID:9452419 ; - oboInOwl:hasDbXref UMLS:C1335596 ; oboInOwl:hasExactSynonym "RASD1", "dexamethasone-induced ras protein 1", "ras protein, dexamethasone-induced, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51655 ; - skos:exactMatch HGNC_symbol:RASD1 ; + skos:exactMatch UMLS:C1335596, + HGNC:15828, + HGNC_symbol:RASD1 ; biolink:category biolink:Gene . OMIM:605551 a owl:Class ; @@ -207490,26 +214592,28 @@ OMIM:605551 a owl:Class ; PMID:9459447 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:619155 ; - oboInOwl:hasDbXref UMLS:C1826455 ; oboInOwl:hasExactSynonym "NOS1AP", "c-terminal pdz domain ligand of neuronal nitric oxide synthase", "nitric oxide synthase 1 (neuronal) adaptor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9722 ; - skos:exactMatch HGNC_symbol:NOS1AP ; + skos:exactMatch UMLS:C1826455, + HGNC:16859, + HGNC_symbol:NOS1AP ; biolink:category biolink:Gene . OMIM:605553 a owl:Class ; rdfs:label "PAPOLA" ; IAO:0000142 PMID:10429366, PMID:8302877 ; - oboInOwl:hasDbXref UMLS:C1423108 ; oboInOwl:hasExactSynonym "PAPOLA", "pap", "poly(a) polymerase, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10914 ; - skos:exactMatch HGNC_symbol:PAPOLA ; + skos:exactMatch UMLS:C1423108, + HGNC:14981, + HGNC_symbol:PAPOLA ; biolink:category biolink:Gene . OMIM:605554 a owl:Class ; @@ -207527,7 +214631,6 @@ OMIM:605554 a owl:Class ; PMID:9841922 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:180300 ; - oboInOwl:hasDbXref UMLS:C1425360 ; oboInOwl:hasExactSynonym "CD244", "cd244 antigen", "natural killer cell activation-inducing ligand", @@ -207535,7 +214638,9 @@ OMIM:605554 a owl:Class ; "slam family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51744 ; - skos:exactMatch HGNC_symbol:CD244 ; + skos:exactMatch UMLS:C1425360, + HGNC:18171, + HGNC_symbol:CD244 ; biolink:category biolink:Gene . OMIM:605555 a owl:Class ; @@ -207557,17 +214662,18 @@ OMIM:605555 a owl:Class ; PMID:9837941 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:102200 ; - oboInOwl:hasDbXref UMLS:C1412302, - UMLS:C1863340, - UMLS:C4538355, - UMLS:C4540568 ; oboInOwl:hasExactSynonym "AIP", "ara9", "aryl hydrocarbon receptor-interacting protein", "hepatitis B virus x-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9049 ; - skos:exactMatch HGNC_symbol:AIP ; + skos:exactMatch UMLS:C1412302, + UMLS:C1863340, + UMLS:C4538355, + UMLS:C4540568, + HGNC:358, + HGNC_symbol:AIP ; biolink:category biolink:Gene . OMIM:605556 a owl:Class ; @@ -207575,12 +214681,13 @@ OMIM:605556 a owl:Class ; IAO:0000142 PMID:10965143, PMID:18165320, PMID:18413482 ; - oboInOwl:hasDbXref UMLS:C1422206 ; oboInOwl:hasExactSynonym "SLC4A10", "solute carrier family 4 (sodium bicarbonate transporter-like), member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57282 ; - skos:exactMatch HGNC_symbol:SLC4A10 ; + skos:exactMatch UMLS:C1422206, + HGNC:13811, + HGNC_symbol:SLC4A10 ; biolink:category biolink:Gene . OMIM:605557 a owl:Class ; @@ -207601,13 +214708,14 @@ OMIM:605557 a owl:Class ; PMID:8547101 ; RO:0002525 CHR:9606chr1p36.32 ; RO:0003303 OMIM:615373 ; - oboInOwl:hasDbXref UMLS:C1422337 ; oboInOwl:hasExactSynonym "PRDM16", "mds1/evi1-like gene 1", "pr domain-containing protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63976 ; - skos:exactMatch HGNC_symbol:PRDM16 ; + skos:exactMatch UMLS:C1422337, + HGNC:14000, + HGNC_symbol:PRDM16 ; biolink:category biolink:Gene . OMIM:605558 a owl:Class ; @@ -207624,47 +214732,51 @@ OMIM:605558 a owl:Class ; PMID:22698282 ; RO:0002525 CHR:9606chr8p22 ; RO:0003303 OMIM:615721 ; - oboInOwl:hasDbXref UMLS:C1333537 ; oboInOwl:hasExactSynonym "FGF20", "fibroblast growth factor 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26281 ; - skos:exactMatch HGNC_symbol:FGF20 ; + skos:exactMatch UMLS:C1333537, + HGNC:3677, + HGNC_symbol:FGF20 ; biolink:category biolink:Gene . OMIM:605559 a owl:Class ; rdfs:label "HOXC11" ; IAO:0000142 PMID:1358459, PMID:9582375 ; - oboInOwl:hasDbXref UMLS:C1415675 ; oboInOwl:hasExactSynonym "HOXC11", "homeobox c11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3227 ; - skos:exactMatch HGNC_symbol:HOXC11 ; + skos:exactMatch UMLS:C1415675, + HGNC:5123, + HGNC_symbol:HOXC11 ; biolink:category biolink:Gene . OMIM:605560 a owl:Class ; rdfs:label "HOXC10" ; IAO:0000142 PMID:1358459, PMID:17974957 ; - oboInOwl:hasDbXref UMLS:C1415674 ; oboInOwl:hasExactSynonym "HOXC10", "homeobox c10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3226 ; - skos:exactMatch HGNC_symbol:HOXC10 ; + skos:exactMatch UMLS:C1415674, + HGNC:5122, + HGNC_symbol:HOXC10 ; biolink:category biolink:Gene . OMIM:605561 a owl:Class ; rdfs:label "PKP3" ; IAO:0000142 PMID:10374265 ; - oboInOwl:hasDbXref UMLS:C1418614 ; oboInOwl:hasExactSynonym "PKP3", "plakophilin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11187 ; - skos:exactMatch HGNC_symbol:PKP3 ; + skos:exactMatch UMLS:C1418614, + HGNC:9025, + HGNC_symbol:PKP3 ; biolink:category biolink:Gene . OMIM:605562 a owl:Class ; @@ -207672,13 +214784,14 @@ OMIM:605562 a owl:Class ; IAO:0000142 PMID:8062249, PMID:8631025, PMID:9488047 ; - oboInOwl:hasDbXref UMLS:C1417139 ; oboInOwl:hasExactSynonym "SCGB2A2", "mammaglobin 1", "secretoglobin, family 2a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4250 ; - skos:exactMatch HGNC_symbol:SCGB2A2 ; + skos:exactMatch UMLS:C1417139, + HGNC:7050, + HGNC_symbol:SCGB2A2 ; biolink:category biolink:Gene . OMIM:605563 a owl:Class ; @@ -207689,13 +214802,14 @@ OMIM:605563 a owl:Class ; PMID:17224447, PMID:17947313, PMID:9920909 ; - oboInOwl:hasDbXref UMLS:C1413053 ; oboInOwl:hasExactSynonym "CABP1", "calbrain", "calcium-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9478 ; - skos:exactMatch HGNC_symbol:CABP1 ; + skos:exactMatch UMLS:C1413053, + HGNC:1384, + HGNC_symbol:CABP1 ; biolink:category biolink:Gene . OMIM:605564 a owl:Class ; @@ -207705,14 +214819,15 @@ OMIM:605564 a owl:Class ; PMID:9931475 ; RO:0002525 CHR:9606chr15q25.1 ; RO:0003303 OMIM:614869 ; - oboInOwl:hasDbXref UMLS:C1538465 ; oboInOwl:hasExactSynonym "CIB2", "calcium- and integrin-binding protein 2", "dna-dependent protein kinase-interacting protein 2", "kinase-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10518 ; - skos:exactMatch HGNC_symbol:CIB2 ; + skos:exactMatch UMLS:C1538465, + HGNC:24579, + HGNC_symbol:CIB2 ; biolink:category biolink:Gene . OMIM:605565 a owl:Class ; @@ -207737,16 +214852,17 @@ OMIM:605565 a owl:Class ; PMID:24606903 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1426906, - UMLS:C1854174, - UMLS:C3837967 ; oboInOwl:hasExactSynonym "RETN", "found 1n inflammatory zone 3", "resistin", "rstn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56729 ; - skos:exactMatch HGNC_symbol:RETN ; + skos:exactMatch UMLS:C1426906, + UMLS:C1854174, + UMLS:C3837967, + HGNC:20389, + HGNC_symbol:RETN ; biolink:category biolink:Gene . OMIM:605566 a owl:Class ; @@ -207767,13 +214883,14 @@ OMIM:605566 a owl:Class ; PMID:16195464 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1425639 ; oboInOwl:hasExactSynonym "RTN4R", "nogo receptor", "reticulon 4 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65078 ; - skos:exactMatch HGNC_symbol:RTN4R ; + skos:exactMatch UMLS:C1425639, + HGNC:18601, + HGNC_symbol:RTN4R ; biolink:category biolink:Gene . OMIM:605567 a owl:Class ; @@ -207782,13 +214899,14 @@ OMIM:605567 a owl:Class ; PMID:15034012, PMID:16683188, PMID:9177220 ; - oboInOwl:hasDbXref UMLS:C1822729 ; oboInOwl:hasExactSynonym "SIVA1", "cd27-binding protein", "siva apoptosis-inducing factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10572 ; - skos:exactMatch HGNC_symbol:SIVA1 ; + skos:exactMatch UMLS:C1822729, + HGNC:17712, + HGNC_symbol:SIVA1 ; biolink:category biolink:Gene . OMIM:605568 a owl:Class ; @@ -207799,13 +214917,14 @@ OMIM:605568 a owl:Class ; PMID:18567580, PMID:19318350, PMID:22020285 ; - oboInOwl:hasDbXref UMLS:C1539796 ; oboInOwl:hasExactSynonym "SMURF1", "smad ubiquitination regulatory factor 1", "smad-specific e3 ubiquitin protein ligase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57154 ; - skos:exactMatch HGNC_symbol:SMURF1 ; + skos:exactMatch UMLS:C1539796, + HGNC:16807, + HGNC_symbol:SMURF1 ; biolink:category biolink:Gene . OMIM:605570 a owl:Class ; @@ -207818,12 +214937,13 @@ OMIM:605570 a owl:Class ; PMID:24876499, PMID:9662449, PMID:9880326 ; - oboInOwl:hasDbXref UMLS:C1419189 ; oboInOwl:hasExactSynonym "RAB11A", "ras-associated protein rab11a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8766 ; - skos:exactMatch HGNC_symbol:RAB11A ; + skos:exactMatch UMLS:C1419189, + HGNC:9760, + HGNC_symbol:RAB11A ; biolink:category biolink:Gene . OMIM:605571 a owl:Class ; @@ -207837,14 +214957,15 @@ OMIM:605571 a owl:Class ; PMID:21186352, PMID:22121019, PMID:9851978 ; - oboInOwl:hasDbXref UMLS:C1418598 ; oboInOwl:hasExactSynonym "PIWIL1", "hiwi", "miwi, mouse, homolog of", "piwi-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9271 ; - skos:exactMatch HGNC_symbol:PIWIL1 ; + skos:exactMatch UMLS:C1418598, + HGNC:9007, + HGNC_symbol:PIWIL1 ; biolink:category biolink:Gene . OMIM:605573 a owl:Class ; @@ -207861,7 +214982,6 @@ OMIM:605573 a owl:Class ; PMID:9758445 ; RO:0002525 CHR:9606chr9q22.32 ; RO:0003303 OMIM:264300 ; - oboInOwl:hasDbXref UMLS:C1415739 ; oboInOwl:hasExactSynonym "17-beta hydroxysteroid dehydrogenase 3", "17-beta-hsd 3", "HSD17B3", @@ -207869,20 +214989,23 @@ OMIM:605573 a owl:Class ; "testicular 17-beta-hydroxysteroid dehydrogenase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3293 ; - skos:exactMatch HGNC_symbol:HSD17B3 ; + skos:exactMatch UMLS:C1415739, + HGNC:5212, + HGNC_symbol:HSD17B3 ; biolink:category biolink:Gene . OMIM:605574 a owl:Class ; rdfs:label "UBE2C" ; IAO:0000142 PMID:15558010, PMID:9122200 ; - oboInOwl:hasDbXref UMLS:C1423844 ; oboInOwl:hasExactSynonym "UBE2C", "ubiquitin-conjugating enzyme e2c", "ubiquitin-conjugating enzyme ubch10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11065 ; - skos:exactMatch HGNC_symbol:UBE2C ; + skos:exactMatch UMLS:C1423844, + HGNC:15937, + HGNC_symbol:UBE2C ; biolink:category biolink:Gene . OMIM:605575 a owl:Class ; @@ -207890,26 +215013,28 @@ OMIM:605575 a owl:Class ; IAO:0000142 PMID:10319587, PMID:10958694, PMID:9789013 ; - oboInOwl:hasDbXref UMLS:C1422347 ; oboInOwl:hasExactSynonym "SMC4", "chromosome-associated protein c", "structural maintenance of chromosomes 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10051 ; - skos:exactMatch HGNC_symbol:SMC4 ; + skos:exactMatch UMLS:C1422347, + HGNC:14013, + HGNC_symbol:SMC4 ; biolink:category biolink:Gene . OMIM:605576 a owl:Class ; rdfs:label "SMC2" ; IAO:0000142 PMID:10958694, PMID:9789013 ; - oboInOwl:hasDbXref UMLS:C1822779 ; oboInOwl:hasExactSynonym "SMC2", "chromosome-associated protein e", "structural maintenance of chromosomes 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10592 ; - skos:exactMatch HGNC_symbol:SMC2 ; + skos:exactMatch UMLS:C1822779, + HGNC:14011, + HGNC_symbol:SMC2 ; biolink:category biolink:Gene . OMIM:605577 a owl:Class ; @@ -207921,7 +215046,6 @@ OMIM:605577 a owl:Class ; PMID:9789079 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:615888 ; - oboInOwl:hasDbXref UMLS:C1419284 ; oboInOwl:hasExactSynonym "RASGRP2", "calcium and diacylglycerol-regulated guanine nucleotide exchange factor 1", "caldag-gefi", @@ -207929,19 +215053,22 @@ OMIM:605577 a owl:Class ; "ras guanyl nucleotide-releasing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10235 ; - skos:exactMatch HGNC_symbol:RASGRP2 ; + skos:exactMatch UMLS:C1419284, + HGNC:9879, + HGNC_symbol:RASGRP2 ; biolink:category biolink:Gene . OMIM:605578 a owl:Class ; rdfs:label "IFITM2" ; IAO:0000142 PMID:12659663, PMID:1906403 ; - oboInOwl:hasDbXref UMLS:C1415897 ; oboInOwl:hasExactSynonym "IFITM2", "interferon-induced transmembrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10581 ; - skos:exactMatch HGNC_symbol:IFITM2 ; + skos:exactMatch UMLS:C1415897, + HGNC:5413, + HGNC_symbol:IFITM2 ; biolink:category biolink:Gene . OMIM:605579 a owl:Class ; @@ -207954,12 +215081,13 @@ OMIM:605579 a owl:Class ; PMID:22446628 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:614680 ; - oboInOwl:hasDbXref UMLS:C1415898 ; oboInOwl:hasExactSynonym "IFITM3", "interferon-induced transmembrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10410 ; - skos:exactMatch HGNC_symbol:IFITM3 ; + skos:exactMatch UMLS:C1415898, + HGNC:5414, + HGNC_symbol:IFITM3 ; biolink:category biolink:Gene . OMIM:605580 a owl:Class ; @@ -207988,7 +215116,6 @@ OMIM:605580 a owl:Class ; PMID:24759321, PMID:25754330, PMID:29950727 ; - oboInOwl:hasDbXref UMLS:C1423526 ; oboInOwl:hasExactSynonym "IL23A", "interleukin 23, p19 subunit", "interleukin 23-alpha", @@ -207996,7 +215123,9 @@ OMIM:605580 a owl:Class ; "sgrf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51561 ; - skos:exactMatch HGNC_symbol:IL23A ; + skos:exactMatch UMLS:C1423526, + HGNC:15488, + HGNC_symbol:IL23A ; biolink:category biolink:Gene . OMIM:605581 a owl:Class ; @@ -208005,14 +215134,15 @@ OMIM:605581 a owl:Class ; PMID:18826941, PMID:20816167, PMID:9892646 ; - oboInOwl:hasDbXref UMLS:C1825856 ; oboInOwl:hasExactSynonym "B3GNT2", "b3gnt", "beta-1,3-n-acetylglucosaminyltransferase 1, formerly", "beta-1,3-n-acetylglucosyaminyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10678 ; - skos:exactMatch HGNC_symbol:B3GNT2 ; + skos:exactMatch UMLS:C1825856, + HGNC:15629, + HGNC_symbol:B3GNT2 ; biolink:category biolink:Gene . OMIM:605584 a owl:Class ; @@ -208022,8 +215152,6 @@ OMIM:605584 a owl:Class ; PMID:9524131 ; RO:0002525 CHR:9606chr16q22.2 ; RO:0003303 OMIM:618220 ; - oboInOwl:hasDbXref UMLS:C1424825, - UMLS:C4748725 ; oboInOwl:hasExactSynonym "DHX38", "ddx38", "deah-box helicase 38", @@ -208031,7 +215159,10 @@ OMIM:605584 a owl:Class ; "prp16, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9785 ; - skos:exactMatch HGNC_symbol:DHX38 ; + skos:exactMatch UMLS:C1424825, + UMLS:C4748725, + HGNC:17211, + HGNC_symbol:DHX38 ; biolink:category biolink:Gene . OMIM:605585 a owl:Class ; @@ -208039,26 +215170,28 @@ OMIM:605585 a owl:Class ; IAO:0000142 PMID:9524131 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:619302 ; - oboInOwl:hasDbXref UMLS:C1424923 ; oboInOwl:hasExactSynonym "CDC40", "cell division cycle 40", "cell division cycle 40, s. cerevisiae, homolog of", "prp17, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51362 ; - skos:exactMatch HGNC_symbol:CDC40 ; + skos:exactMatch UMLS:C1424923, + HGNC:17350, + HGNC_symbol:CDC40 ; biolink:category biolink:Gene . OMIM:605586 a owl:Class ; rdfs:label "IPO7" ; IAO:0000142 PMID:9214382 ; - oboInOwl:hasDbXref UMLS:C1419263 ; oboInOwl:hasExactSynonym "IPO7", "importin 7", "ran-binding protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10527 ; - skos:exactMatch HGNC_symbol:IPO7 ; + skos:exactMatch UMLS:C1419263, + HGNC:9852, + HGNC_symbol:IPO7 ; biolink:category biolink:Gene . OMIM:605587 a owl:Class ; @@ -208066,7 +215199,6 @@ OMIM:605587 a owl:Class ; IAO:0000142 PMID:10097100, PMID:10992299, PMID:9624529 ; - oboInOwl:hasDbXref UMLS:C1335811 ; oboInOwl:hasExactSynonym "PI14", "myoepithelium-derived serine protease inhibitor", "pancpin", @@ -208074,20 +215206,22 @@ OMIM:605587 a owl:Class ; "serine protease inhibitor, clade i, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5276 ; - skos:exactMatch HGNC_symbol:SERPINI2 ; + skos:exactMatch UMLS:C1335811, + HGNC:8945, + HGNC_symbol:SERPINI2 ; biolink:category biolink:Gene . OMIM:605588 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2b1" ; IAO:0000142 PMID:10441578, PMID:11799477 ; - oboInOwl:hasDbXref UMLS:C1854154 ; oboInOwl:hasExactSynonym "CMT2B1", "charcot-marie-tooth disease, axonal, iia 2b1", "charcot-marie-tooth disease, axonal, autosomal recessive, iia 2b1", "charcot-marie-tooth disease, neuronal, iia 2b1", "charcot-marie-tooth neuropathy, iia 2b1" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1854154 ; biolink:category biolink:Disease . OMIM:605589 a owl:Class ; @@ -208097,8 +215231,6 @@ OMIM:605589 a owl:Class ; PMID:19290556, PMID:27066567, PMID:30039206 ; - oboInOwl:hasDbXref UMLS:C1854150, - ORPHA:101101 ; oboInOwl:hasExactSynonym "CMT2B2", "arcmt2b", "charcot-marie-tooth disease, axonal, iia 2b2", @@ -208106,6 +215238,8 @@ OMIM:605589 a owl:Class ; "charcot-marie-tooth disease, neuronal, iia 2b2", "charcot-marie-tooth neuropathy, iia 2b2" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1854150, + ORPHA:101101 ; biolink:category biolink:Disease . OMIM:605590 a owl:Class ; @@ -208124,14 +215258,15 @@ OMIM:605590 a owl:Class ; PMID:9585501 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:614286 ; - oboInOwl:hasDbXref UMLS:C1419980 ; oboInOwl:hasExactSynonym "SF3B1", "sf3b, 155-kd subunit", "spliceosome-associated protein, 155-kd", "splicing factor 3b, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23451 ; - skos:exactMatch HGNC_symbol:SF3B1 ; + skos:exactMatch UMLS:C1419980, + HGNC:10768, + HGNC_symbol:SF3B1 ; biolink:category biolink:Gene . OMIM:605591 a owl:Class ; @@ -208139,28 +215274,30 @@ OMIM:605591 a owl:Class ; IAO:0000142 PMID:8566756 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:164210 ; - oboInOwl:hasDbXref UMLS:C1419981 ; oboInOwl:hasExactSynonym "SF3B2", "sf3b, 145-kd subunit", "spliceosome-associated protein, 145-kd", "splicing factor 3b, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10992 ; - skos:exactMatch HGNC_symbol:SF3B2 ; + skos:exactMatch UMLS:C1419981, + HGNC:10769, + HGNC_symbol:SF3B2 ; biolink:category biolink:Gene . OMIM:605592 a owl:Class ; rdfs:label "SF3B3" ; IAO:0000142 PMID:10490618, PMID:7584026 ; - oboInOwl:hasDbXref UMLS:C1419982 ; oboInOwl:hasExactSynonym "SF3B3", "sf3b, 130-kd subunit", "spliceosome-associated protein, 130-kd", "splicing factor 3b, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23450 ; - skos:exactMatch HGNC_symbol:SF3B3 ; + skos:exactMatch UMLS:C1419982, + HGNC:10770, + HGNC_symbol:SF3B3 ; biolink:category biolink:Gene . OMIM:605593 a owl:Class ; @@ -208171,24 +215308,25 @@ OMIM:605593 a owl:Class ; PMID:7958871 ; RO:0002525 CHR:9606chr1q21.2 ; RO:0003303 OMIM:154400 ; - oboInOwl:hasDbXref UMLS:C1419983 ; oboInOwl:hasExactSynonym "SF3B4", "sf3b, 49-kd subunit", "spliceosome-associated protein, 49-kd", "splicing factor 3b, subunit 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10262 ; - skos:exactMatch HGNC_symbol:SF3B4 ; + skos:exactMatch UMLS:C1419983, + HGNC:10771, + HGNC_symbol:SF3B4 ; biolink:category biolink:Gene . OMIM:605594 a owl:Class ; rdfs:label "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" ; IAO:0000142 PMID:11175790 ; - oboInOwl:hasDbXref UMLS:C1854146 ; oboInOwl:hasExactSynonym "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1", "dfna39/dentinogenesis imperfecta 1 syndrome", "dfna39/dgi1 syndrome", "dgi1/dfna39 syndrome" ; + skos:exactMatch UMLS:C1854146 ; biolink:category biolink:Disease . OMIM:605595 a owl:Class ; @@ -208196,7 +215334,6 @@ OMIM:605595 a owl:Class ; IAO:0000142 PMID:11252167, PMID:7489498, PMID:9585501 ; - oboInOwl:hasDbXref UMLS:C1419977 ; oboInOwl:hasExactSynonym "SF3A1", "prp21, s. cerevisiae, homolog of", "sf3a, 120-kd subunit", @@ -208204,14 +215341,15 @@ OMIM:605595 a owl:Class ; "splicing factor 3a, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10291 ; - skos:exactMatch HGNC_symbol:SF3A1 ; + skos:exactMatch UMLS:C1419977, + HGNC:10765, + HGNC_symbol:SF3A1 ; biolink:category biolink:Gene . OMIM:605596 a owl:Class ; rdfs:label "SF3A3" ; IAO:0000142 PMID:7816610, PMID:8022796 ; - oboInOwl:hasDbXref UMLS:C1419979 ; oboInOwl:hasExactSynonym "SF3A3", "prp9, s. cerevisiae, homolog of", "sf3a, 60-kd subunit", @@ -208219,7 +215357,9 @@ OMIM:605596 a owl:Class ; "splicing factor 3a, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10946 ; - skos:exactMatch HGNC_symbol:SF3A3 ; + skos:exactMatch UMLS:C1419979, + HGNC:10767, + HGNC_symbol:SF3A3 ; biolink:category biolink:Gene . OMIM:605597 a owl:Class ; @@ -208264,26 +215404,28 @@ OMIM:605597 a owl:Class ; PMID:8074155 ; RO:0002525 CHR:9606chr3q22.3 ; RO:0003303 OMIM:608996 ; - oboInOwl:hasDbXref UMLS:C1412815 ; oboInOwl:hasExactSynonym "FOXL2", "forkhead transcription factor foxl2", "pituitary forkhead factor, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:668 ; - skos:exactMatch HGNC_symbol:FOXL2 ; + skos:exactMatch UMLS:C1412815, + HGNC:1092, + HGNC_symbol:FOXL2 ; biolink:category biolink:Gene . OMIM:605599 a owl:Class ; rdfs:label "LYPLA1" ; IAO:0000142 PMID:10064899, PMID:25271157 ; - oboInOwl:hasDbXref UMLS:C1416943 ; oboInOwl:hasExactSynonym "LYPLA1", "acyl protein thioesterase 1", "lysophospholipase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10434 ; - skos:exactMatch HGNC_symbol:LYPLA1 ; + skos:exactMatch UMLS:C1416943, + HGNC:6737, + HGNC_symbol:LYPLA1 ; biolink:category biolink:Gene . OMIM:605600 a owl:Class ; @@ -208292,14 +215434,15 @@ OMIM:605600 a owl:Class ; PMID:9214382 ; RO:0002525 CHR:9606chr12p11.21 ; RO:0003303 OMIM:619472 ; - oboInOwl:hasDbXref UMLS:C1419264 ; oboInOwl:hasExactSynonym "IPO8", "imp8", "importin 8", "ran-binding protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10526 ; - skos:exactMatch HGNC_symbol:IPO8 ; + skos:exactMatch UMLS:C1419264, + HGNC:9853, + HGNC_symbol:IPO8 ; biolink:category biolink:Gene . OMIM:605601 a owl:Class ; @@ -208313,13 +215456,14 @@ OMIM:605601 a owl:Class ; PMID:3422083, PMID:7531438, PMID:7685339 ; - oboInOwl:hasDbXref UMLS:C1418889 ; oboInOwl:hasExactSynonym "PRG2", "eosinophil granule major basic protein", "proteoglycan 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5553 ; - skos:exactMatch HGNC_symbol:PRG2 ; + skos:exactMatch UMLS:C1418889, + HGNC:9362, + HGNC_symbol:PRG2 ; biolink:category biolink:Gene . OMIM:605602 a owl:Class ; @@ -208332,13 +215476,14 @@ OMIM:605602 a owl:Class ; PMID:22987565 ; RO:0002525 CHR:9606chr4q26 ; RO:0003303 OMIM:613838 ; - oboInOwl:hasDbXref UMLS:C1413006 ; oboInOwl:hasExactSynonym "MYOZ2", "calsarcin 1", "myozenin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51778 ; - skos:exactMatch HGNC_symbol:MYOZ2 ; + skos:exactMatch UMLS:C1413006, + HGNC:1330, + HGNC_symbol:MYOZ2 ; biolink:category biolink:Gene . OMIM:605603 a owl:Class ; @@ -208347,20 +215492,20 @@ OMIM:605603 a owl:Class ; PMID:11114196, PMID:11171996, PMID:11842093 ; - oboInOwl:hasDbXref UMLS:C1422182 ; oboInOwl:hasExactSynonym "MYOZ1", "calsarcin 2", "myozenin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58529 ; - skos:exactMatch HGNC_symbol:MYOZ1 ; + skos:exactMatch UMLS:C1422182, + HGNC:13752, + HGNC_symbol:MYOZ1 ; biolink:category biolink:Gene . OMIM:605604 a owl:Class ; rdfs:label "PAIP2" ; IAO:0000142 PMID:11172725, PMID:15175342 ; - oboInOwl:hasDbXref UMLS:C1425208 ; oboInOwl:hasExactSynonym "PAIP2", "pabp-interacting protein 2", "paip2a", @@ -208368,7 +215513,9 @@ OMIM:605604 a owl:Class ; "polyadenylate-binding protein-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51247 ; - skos:exactMatch HGNC_symbol:PAIP2 ; + skos:exactMatch UMLS:C1425208, + HGNC:17970, + HGNC_symbol:PAIP2 ; biolink:category biolink:Gene . OMIM:605605 a owl:Class ; @@ -208379,12 +215526,13 @@ OMIM:605607 a owl:Class ; rdfs:label "CENPH" ; IAO:0000142 PMID:11092768, PMID:1757494 ; - oboInOwl:hasDbXref UMLS:C1424860 ; oboInOwl:hasExactSynonym "CENPH", "centromeric protein h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64946 ; - skos:exactMatch HGNC_symbol:CENPH ; + skos:exactMatch UMLS:C1424860, + HGNC:17268, + HGNC_symbol:CENPH ; biolink:category biolink:Gene . OMIM:605608 a owl:Class ; @@ -208397,12 +215545,13 @@ OMIM:605608 a owl:Class ; PMID:22246673 ; RO:0002525 CHR:9606chr21q22.13 ; RO:0003303 OMIM:614035 ; - oboInOwl:hasDbXref UMLS:C1413463 ; oboInOwl:hasExactSynonym "CLDN14", "claudin 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23562 ; - skos:exactMatch HGNC_symbol:CLDN14 ; + skos:exactMatch UMLS:C1413463, + HGNC:2035, + HGNC_symbol:CLDN14 ; biolink:category biolink:Gene . OMIM:605609 a owl:Class ; @@ -208413,13 +215562,14 @@ OMIM:605609 a owl:Class ; PMID:31785787 ; RO:0002525 CHR:9606chr8q23.1 ; RO:0003303 OMIM:213000 ; - oboInOwl:hasDbXref UMLS:C1423755, - UMLS:C5231391 ; oboInOwl:hasExactSynonym "OXR1", "oxidation resistance 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55074 ; - skos:exactMatch HGNC_symbol:OXR1 ; + skos:exactMatch UMLS:C1423755, + UMLS:C5231391, + HGNC:15822, + HGNC_symbol:OXR1 ; biolink:category biolink:Gene . OMIM:605610 a owl:Class ; @@ -208434,30 +215584,32 @@ OMIM:605610 a owl:Class ; PMID:30039206 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:613402 ; - oboInOwl:hasDbXref UMLS:C1418707, - UMLS:C1854150, - UMLS:C3150667, - UMLS:C4225397 ; oboInOwl:hasExactSynonym "DNA kinase", "PNKP", "polynucleotide kinase", "polynucleotide kinase 3-prime phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11284 ; - skos:exactMatch HGNC_symbol:PNKP ; + skos:exactMatch UMLS:C1418707, + UMLS:C1854150, + UMLS:C3150667, + UMLS:C4225397, + HGNC:9154, + HGNC_symbol:PNKP ; biolink:category biolink:Gene . OMIM:605611 a owl:Class ; rdfs:label "SH3BP4" ; IAO:0000142 PMID:10644451, PMID:7568168 ; - oboInOwl:hasDbXref UMLS:C1420023 ; oboInOwl:hasExactSynonym "SH3BP4", "bog25", "sh3 domain-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23677 ; - skos:exactMatch HGNC_symbol:SH3BP4 ; + skos:exactMatch UMLS:C1420023, + HGNC:10826, + HGNC_symbol:SH3BP4 ; biolink:category biolink:Gene . OMIM:605612 a owl:Class ; @@ -208465,13 +215617,14 @@ OMIM:605612 a owl:Class ; IAO:0000142 PMID:10339589, PMID:10702676, PMID:9571151 ; - oboInOwl:hasDbXref UMLS:C1420024 ; oboInOwl:hasExactSynonym "SH3BP5", "sab", "sh3 domain-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9467 ; - skos:exactMatch HGNC_symbol:SH3BP5 ; + skos:exactMatch UMLS:C1420024, + HGNC:10827, + HGNC_symbol:SH3BP5 ; biolink:category biolink:Gene . OMIM:605613 a owl:Class ; @@ -208482,21 +215635,21 @@ OMIM:605613 a owl:Class ; PMID:17452370, PMID:9734811, PMID:9852681 ; - oboInOwl:hasDbXref UMLS:C1825475 ; oboInOwl:hasExactSynonym "HIP1R", "hip1-related protein", "huntingtin-interacting protein 1-related protein", "huntingtin-interacting protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9026 ; - skos:exactMatch HGNC_symbol:HIP1R ; + skos:exactMatch UMLS:C1825475, + HGNC:18415, + HGNC_symbol:HIP1R ; biolink:category biolink:Gene . OMIM:605614 a owl:Class ; rdfs:label "GCN1" ; IAO:0000142 PMID:9039502, PMID:9234705 ; - oboInOwl:hasDbXref UMLS:C1415018 ; oboInOwl:hasExactSynonym "GCN1", "gcn1 activator of eif2ak4", "gcn1, eif2-alpha kinase activator homolog", @@ -208504,13 +215657,14 @@ OMIM:605614 a owl:Class ; "kiaa0219" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10985 ; - skos:exactMatch HGNC_symbol:GCN1 ; + skos:exactMatch UMLS:C1415018, + HGNC:4199, + HGNC_symbol:GCN1 ; biolink:category biolink:Gene . OMIM:605615 a owl:Class ; rdfs:label "ARIH2" ; IAO:0000142 PMID:10422847 ; - oboInOwl:hasDbXref UMLS:C1412534 ; oboInOwl:hasExactSynonym "ARIH2", "ari2", "ariadne rbr e3 ubiquitin protein ligase 2", @@ -208518,7 +215672,9 @@ OMIM:605615 a owl:Class ; "triad domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10425 ; - skos:exactMatch HGNC_symbol:ARIH2 ; + skos:exactMatch UMLS:C1412534, + HGNC:690, + HGNC_symbol:ARIH2 ; biolink:category biolink:Gene . OMIM:605616 a owl:Class ; @@ -208527,13 +215683,14 @@ OMIM:605616 a owl:Class ; PMID:9932288 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:242600 ; - oboInOwl:hasDbXref UMLS:C1429013 ; oboInOwl:hasExactSynonym "SLC6A20", "solute carrier family 6 (proline imino transporter), member 20", "x transporter protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54716 ; - skos:exactMatch HGNC_symbol:SLC6A20 ; + skos:exactMatch UMLS:C1429013, + HGNC:30927, + HGNC_symbol:SLC6A20 ; biolink:category biolink:Gene . OMIM:605617 a owl:Class ; @@ -208543,20 +215700,21 @@ OMIM:605617 a owl:Class ; OMIM:605618 a owl:Class ; rdfs:label "tetralogy of fallot syndrome, autosomal recessive" ; IAO:0000142 PMID:11152158 ; - oboInOwl:hasDbXref UMLS:C1854119 ; - oboInOwl:hasExactSynonym "tetralogy of fallot syndrome, autosomal recessive" . + oboInOwl:hasExactSynonym "tetralogy of fallot syndrome, autosomal recessive" ; + skos:exactMatch UMLS:C1854119 . OMIM:605619 a owl:Class ; rdfs:label "IL20" ; IAO:0000142 PMID:11163236, PMID:17878297, PMID:21148041 ; - oboInOwl:hasDbXref UMLS:C1416403 ; oboInOwl:hasExactSynonym "IL20", "interleukin 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50604 ; - skos:exactMatch HGNC_symbol:IL20 ; + skos:exactMatch UMLS:C1416403, + HGNC:6002, + HGNC_symbol:IL20 ; biolink:category biolink:Gene . OMIM:605620 a owl:Class ; @@ -208564,27 +215722,29 @@ OMIM:605620 a owl:Class ; IAO:0000142 PMID:11163236, PMID:11706020, PMID:14764663 ; - oboInOwl:hasDbXref UMLS:C1416404 ; oboInOwl:hasExactSynonym "IL20RA", "il20r1", "interleukin 20 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53832 ; - skos:exactMatch HGNC_symbol:IL20RA ; + skos:exactMatch UMLS:C1416404, + HGNC:6003, + HGNC_symbol:IL20RA ; biolink:category biolink:Gene . OMIM:605621 a owl:Class ; rdfs:label "IL20RB" ; IAO:0000142 PMID:11163236, PMID:11706020 ; - oboInOwl:hasDbXref UMLS:C1416405 ; oboInOwl:hasExactSynonym "IL20RB", "dirs1", "il20r2", "interleukin 20 receptor, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53833 ; - skos:exactMatch HGNC_symbol:IL20RB ; + skos:exactMatch UMLS:C1416405, + HGNC:6004, + HGNC_symbol:IL20RB ; biolink:category biolink:Gene . OMIM:605622 a owl:Class ; @@ -208598,14 +215758,15 @@ OMIM:605622 a owl:Class ; PMID:9651350 ; RO:0002525 CHR:9606chr5q31.3 ; RO:0003303 OMIM:251280 ; - oboInOwl:hasDbXref UMLS:C1418307 ; oboInOwl:hasExactSynonym "PCDH12", "cadherin, vascular endothelial, 2", "protocadherin 12", "ve-cadherin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51294 ; - skos:exactMatch HGNC_symbol:PCDH12 ; + skos:exactMatch UMLS:C1418307, + HGNC:8657, + HGNC_symbol:PCDH12 ; biolink:category biolink:Gene . OMIM:605623 a owl:Class ; @@ -208614,13 +215775,14 @@ OMIM:605623 a owl:Class ; PMID:12559565, PMID:29565995, PMID:9724633 ; - oboInOwl:hasDbXref UMLS:C1417175 ; oboInOwl:hasExactSynonym "MKLN1", "muskelin 1", "two-hybrid-associated protein with ranbpm 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4289 ; - skos:exactMatch HGNC_symbol:MKLN1 ; + skos:exactMatch UMLS:C1417175, + HGNC:7109, + HGNC_symbol:MKLN1 ; biolink:category biolink:Gene . OMIM:605624 a owl:Class ; @@ -208630,7 +215792,6 @@ OMIM:605624 a owl:Class ; PMID:11278816, PMID:14623119, PMID:21532592 ; - oboInOwl:hasDbXref UMLS:C1412533 ; oboInOwl:hasExactSynonym "ARIH1", "ariadne rbr e3 ubiquitin protein ligase 1", "ariadne, drosophila, homolog of, 1", @@ -208638,31 +215799,35 @@ OMIM:605624 a owl:Class ; "ubch7-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25820 ; - skos:exactMatch HGNC_symbol:ARIH1 ; + skos:exactMatch UMLS:C1412533, + HGNC:689, + HGNC_symbol:ARIH1 ; biolink:category biolink:Gene . OMIM:605625 a owl:Class ; rdfs:label "MYEOV" ; IAO:0000142 PMID:10753852, PMID:12202983 ; - oboInOwl:hasDbXref UMLS:C1417531 ; oboInOwl:hasExactSynonym "MYEOV", "myeloma overexpressed gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26579 ; - skos:exactMatch HGNC_symbol:MYEOV ; + skos:exactMatch UMLS:C1417531, + HGNC:7563, + HGNC_symbol:MYEOV ; biolink:category biolink:Gene . OMIM:605626 a owl:Class ; rdfs:label "ERVK-6" ; IAO:0000142 PMID:10080172, PMID:10516026 ; - oboInOwl:hasDbXref UMLS:C1422267 ; oboInOwl:hasExactSynonym "ERVK-6", "endogenous retrovirus group k, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64006 ; - skos:exactMatch HGNC_symbol:ERVK-6 ; + skos:exactMatch UMLS:C1422267, + HGNC:13915, + HGNC_symbol:ERVK-6 ; biolink:category biolink:Gene . OMIM:605627 a owl:Class ; @@ -208672,8 +215837,8 @@ OMIM:605627 a owl:Class ; PMID:17985375, PMID:19206156, PMID:8266999 ; - oboInOwl:hasDbXref UMLS:C1854108 ; oboInOwl:hasExactSynonym "cerebrooculonasal syndrome" ; + skos:exactMatch UMLS:C1854108 ; biolink:category biolink:Disease . OMIM:605628 a owl:Class ; @@ -208682,14 +215847,15 @@ OMIM:605628 a owl:Class ; PMID:10892349, PMID:9174052, PMID:9482853 ; - oboInOwl:hasDbXref UMLS:C1333930 ; oboInOwl:hasExactSynonym "HTATIP2", "cc3", "hiv-1 tat-interacting protein 2, 30-kd", "tip30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10553 ; - skos:exactMatch HGNC_symbol:HTATIP2 ; + skos:exactMatch UMLS:C1333930, + HGNC:16637, + HGNC_symbol:HTATIP2 ; biolink:category biolink:Gene . OMIM:605629 a owl:Class ; @@ -208704,7 +215870,6 @@ OMIM:605629 a owl:Class ; PMID:9792683 ; RO:0002525 CHR:9606chr12q24.23 ; RO:0003303 OMIM:617090 ; - oboInOwl:hasDbXref UMLS:C1413428 ; oboInOwl:hasExactSynonym "CIT", "citron rho-interacting kinase", "citron rho-interacting serine/threonine kinase", @@ -208712,20 +215877,23 @@ OMIM:605629 a owl:Class ; "serine/threonine protein kinase 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11113 ; - skos:exactMatch HGNC_symbol:CIT ; + skos:exactMatch UMLS:C1413428, + HGNC:1985, + HGNC_symbol:CIT ; biolink:category biolink:Gene . OMIM:605630 a owl:Class ; rdfs:label "PLA2G2D" ; IAO:0000142 PMID:10455175, PMID:11196711 ; - oboInOwl:hasDbXref UMLS:C1418619 ; oboInOwl:hasExactSynonym "PLA2G2D", "phospholipase a2, group 2d", "secretory-type pla, stroma-associated homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26279 ; - skos:exactMatch HGNC_symbol:PLA2G2D ; + skos:exactMatch UMLS:C1418619, + HGNC:9033, + HGNC_symbol:PLA2G2D ; biolink:category biolink:Gene . OMIM:605631 a owl:Class ; @@ -208733,7 +215901,6 @@ OMIM:605631 a owl:Class ; IAO:0000142 PMID:10580105, PMID:10580106, PMID:9877162 ; - oboInOwl:hasDbXref UMLS:C1538038 ; oboInOwl:hasExactSynonym "NAPSA", "nap1", "napa", @@ -208741,7 +215908,9 @@ OMIM:605631 a owl:Class ; "pronapsin a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9476 ; - skos:exactMatch HGNC_symbol:NAPSA ; + skos:exactMatch UMLS:C1538038, + HGNC:13395, + HGNC_symbol:NAPSA ; biolink:category biolink:Gene . OMIM:605632 a owl:Class ; @@ -208752,14 +215921,15 @@ OMIM:605632 a owl:Class ; PMID:24031089 ; RO:0002525 CHR:9606chr1p21.2 ; RO:0003303 OMIM:615553 ; - oboInOwl:hasDbXref UMLS:C1420189 ; oboInOwl:hasExactSynonym "SLC35A3", "solute carrier family 35 (udp-n-acetylglucosamine transporter), member 3", "udp-glcnac transporter", "udp-n-acetylglucosamine transporter" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23443 ; - skos:exactMatch HGNC_symbol:SLC35A3 ; + skos:exactMatch UMLS:C1420189, + HGNC:11023, + HGNC_symbol:SLC35A3 ; biolink:category biolink:Gene . OMIM:605633 a owl:Class ; @@ -208767,12 +215937,13 @@ OMIM:605633 a owl:Class ; IAO:0000142 PMID:10973822, PMID:11289722, PMID:1362870 ; - oboInOwl:hasDbXref UMLS:C1421967 ; oboInOwl:hasExactSynonym "MUC3B", "mucin 3b, intestinal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57876 ; - skos:exactMatch HGNC_symbol:MUC3B ; + skos:exactMatch UMLS:C1421967, + HGNC:13384, + HGNC_symbol:MUC3B ; biolink:category biolink:Gene . OMIM:605634 a owl:Class ; @@ -208786,14 +215957,15 @@ OMIM:605634 a owl:Class ; PMID:9644260 ; RO:0002525 CHR:9606chr6q15 ; RO:0003303 OMIM:603585 ; - oboInOwl:hasDbXref UMLS:C1420187 ; oboInOwl:hasExactSynonym "SLC35A1", "cmp-sia transporter", "cytidine monophosphate-sialic acid transporter", "solute carrier family 35 (cmp-sialic acid transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10559 ; - skos:exactMatch HGNC_symbol:SLC35A1 ; + skos:exactMatch UMLS:C1420187, + HGNC:11021, + HGNC_symbol:SLC35A1 ; biolink:category biolink:Gene . OMIM:605635 a owl:Class ; @@ -208803,11 +215975,11 @@ OMIM:605635 a owl:Class ; PMID:29403011, PMID:29403012, PMID:9745430 ; - oboInOwl:hasDbXref UMLS:C1854107 ; oboInOwl:hasExactSynonym "HALD2", "fh 2", "hyperaldosteronism, familial, iia 2" ; rdfs:subClassOf OMIMPS:103900 ; + skos:exactMatch UMLS:C1854107 ; biolink:category biolink:Disease . OMIM:605636 a owl:Class ; @@ -208822,13 +215994,14 @@ OMIM:605636 a owl:Class ; PMID:2035528, PMID:25231870, PMID:8599348 ; - oboInOwl:hasDbXref UMLS:C1422767 ; oboInOwl:hasExactSynonym "MEG3", "gene trap locus 2", "maternally expressed gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55384 ; - skos:exactMatch HGNC_symbol:MEG3 ; + skos:exactMatch UMLS:C1422767, + HGNC:14575, + HGNC_symbol:MEG3 ; biolink:category biolink:Gene . OMIM:605638 a owl:Class ; @@ -208840,7 +216013,6 @@ OMIM:605638 a owl:Class ; PMID:15485903, PMID:18329369, PMID:25616966 ; - oboInOwl:hasDbXref UMLS:C1332417 ; oboInOwl:hasExactSynonym "BIRC6", "apollon", "baculoviral iap repeat-containing protein 6", @@ -208848,7 +216020,9 @@ OMIM:605638 a owl:Class ; "kiaa1289" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57448 ; - skos:exactMatch HGNC_symbol:BIRC6 ; + skos:exactMatch UMLS:C1332417, + HGNC:13516, + HGNC_symbol:BIRC6 ; biolink:category biolink:Gene . OMIM:605639 a owl:Class ; @@ -208856,15 +216030,16 @@ OMIM:605639 a owl:Class ; IAO:0000142 PMID:10625619, PMID:10856141, PMID:11095983 ; - oboInOwl:hasDbXref UMLS:C1420063, - UMLS:C1854105 ; oboInOwl:hasExactSynonym "SIGLEC8", "sialic acid-binding immunoglobulin-like lectin 8", "sialic acid-binding immunoglobulin-like lectin 8, long isoform", "sialoadhesin family member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27181 ; - skos:exactMatch HGNC_symbol:SIGLEC8 ; + skos:exactMatch UMLS:C1420063, + UMLS:C1854105, + HGNC:10877, + HGNC_symbol:SIGLEC8 ; biolink:category biolink:Gene . OMIM:605640 a owl:Class ; @@ -208872,26 +216047,28 @@ OMIM:605640 a owl:Class ; IAO:0000142 PMID:10801860, PMID:10801862, PMID:10903842 ; - oboInOwl:hasDbXref UMLS:C1420064 ; oboInOwl:hasExactSynonym "SIGLEC9", "sialic acid-binding immunoglobulin-like lectin 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27180 ; - skos:exactMatch HGNC_symbol:SIGLEC9 ; + skos:exactMatch UMLS:C1420064, + HGNC:10878, + HGNC_symbol:SIGLEC9 ; biolink:category biolink:Gene . OMIM:605641 a owl:Class ; rdfs:label "SLC7A6" ; IAO:0000142 PMID:9039502, PMID:9829974 ; - oboInOwl:hasDbXref UMLS:C1420225 ; oboInOwl:hasExactSynonym "SLC7A6", "solute carrier family 7 (cationic amino acid transporter, y+ system), member 6", "y(+)l-type amino acid transporter 2", "y(+)lat2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9057 ; - skos:exactMatch HGNC_symbol:SLC7A6 ; + skos:exactMatch UMLS:C1420225, + HGNC:11064, + HGNC_symbol:SLC7A6 ; biolink:category biolink:Gene . OMIM:605643 a owl:Class ; @@ -208903,7 +216080,6 @@ OMIM:605643 a owl:Class ; PMID:11237385, PMID:16829021, PMID:24534191 ; - oboInOwl:hasDbXref UMLS:C1416676 ; oboInOwl:hasExactSynonym "KLK5", "kallikrein 5", "kallikrein-like 2", @@ -208911,7 +216087,9 @@ OMIM:605643 a owl:Class ; "stratum corneum tryptic enzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25818 ; - skos:exactMatch HGNC_symbol:KLK5 ; + skos:exactMatch UMLS:C1416676, + HGNC:6366, + HGNC_symbol:KLK5 ; biolink:category biolink:Gene . OMIM:605644 a owl:Class ; @@ -208924,7 +216102,6 @@ OMIM:605644 a owl:Class ; PMID:17487847, PMID:21508957, PMID:9714609 ; - oboInOwl:hasDbXref UMLS:C1416679 ; oboInOwl:hasExactSynonym "KLK8", "kallikrein 8", "kallikrein-related peptidase 8", @@ -208935,7 +216112,9 @@ OMIM:605644 a owl:Class ; "tumor-associated differentially expressed gene 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11202 ; - skos:exactMatch HGNC_symbol:KLK8 ; + skos:exactMatch UMLS:C1416679, + HGNC:6369, + HGNC_symbol:KLK8 ; biolink:category biolink:Gene . OMIM:605645 a owl:Class ; @@ -208943,14 +216122,15 @@ OMIM:605645 a owl:Class ; IAO:0000142 PMID:10921885, PMID:12531878, PMID:17024245 ; - oboInOwl:hasDbXref UMLS:C1426905 ; oboInOwl:hasExactSynonym "RETNLB", "found 1n inflammatory zone 2", "resistin-like molecule-beta", "resistin-like protein, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84666 ; - skos:exactMatch HGNC_symbol:RETNLB ; + skos:exactMatch UMLS:C1426905, + HGNC:20388, + HGNC_symbol:RETNLB ; biolink:category biolink:Gene . OMIM:605646 a owl:Class ; @@ -209006,14 +216186,15 @@ OMIM:605646 a owl:Class ; PMID:9920104 ; RO:0002525 CHR:9606chr7q22.3 ; RO:0003303 OMIM:274600 ; - oboInOwl:hasDbXref UMLS:C1418445 ; oboInOwl:hasExactSynonym "SLC26A4", "pds gene", "pendrin", "solute carrier family 26, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5172 ; - skos:exactMatch HGNC_symbol:SLC26A4 ; + skos:exactMatch UMLS:C1418445, + HGNC:8818, + HGNC_symbol:SLC26A4 ; biolink:category biolink:Gene . OMIM:605647 a owl:Class ; @@ -209024,14 +216205,15 @@ OMIM:605647 a owl:Class ; PMID:12383498, PMID:15520277, PMID:31308089 ; - oboInOwl:hasDbXref UMLS:C1422080 ; oboInOwl:hasExactSynonym "FBXO6", "f-box only protein 6", "f-box/g-domain protein 2", "fbx6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26270 ; - skos:exactMatch HGNC_symbol:FBXO6 ; + skos:exactMatch UMLS:C1422080, + HGNC:13585, + HGNC_symbol:FBXO6 ; biolink:category biolink:Gene . OMIM:605648 a owl:Class ; @@ -209045,14 +216227,15 @@ OMIM:605648 a owl:Class ; PMID:26310625 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:260300 ; - oboInOwl:hasDbXref UMLS:C1422081 ; oboInOwl:hasExactSynonym "FBXO7", "f-box only protein 7", "fbx", "fbx7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25793 ; - skos:exactMatch HGNC_symbol:FBXO7 ; + skos:exactMatch UMLS:C1422081, + HGNC:13586, + HGNC_symbol:FBXO7 ; biolink:category biolink:Gene . OMIM:605649 a owl:Class ; @@ -209061,14 +216244,15 @@ OMIM:605649 a owl:Class ; PMID:10531037, PMID:10945468, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422082 ; oboInOwl:hasExactSynonym "FBXO8", "f-box only protein 8", "f-box/sec7 protein", "fbx8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26269 ; - skos:exactMatch HGNC_symbol:FBXO8 ; + skos:exactMatch UMLS:C1422082, + HGNC:13587, + HGNC_symbol:FBXO8 ; biolink:category biolink:Gene . OMIM:605650 a owl:Class ; @@ -209080,14 +216264,15 @@ OMIM:605650 a owl:Class ; PMID:17043239, PMID:17317631, PMID:19170759 ; - oboInOwl:hasDbXref UMLS:C1418735 ; oboInOwl:hasExactSynonym "POLK", "dinb1", "polq", "polymerase, dna, kappa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51426 ; - skos:exactMatch HGNC_symbol:POLK ; + skos:exactMatch UMLS:C1418735, + HGNC:9183, + HGNC_symbol:POLK ; biolink:category biolink:Gene . OMIM:605651 a owl:Class ; @@ -209100,10 +216285,6 @@ OMIM:605651 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr5q35.1 ; RO:0003303 OMIM:618914 ; - oboInOwl:hasDbXref UMLS:C1539505, - UMLS:C1854075, - UMLS:C1854076, - UMLS:C5394477 ; oboInOwl:hasExactSynonym "FBXW11", "beta-transducin repeat-containing protein 2", "beta-transducin repeat-containing protein 2, isoform B", @@ -209115,7 +216296,12 @@ OMIM:605651 a owl:Class ; "fbw1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23291 ; - skos:exactMatch HGNC_symbol:FBXW11 ; + skos:exactMatch UMLS:C1539505, + UMLS:C1854075, + UMLS:C1854076, + UMLS:C5394477, + HGNC:13607, + HGNC_symbol:FBXW11 ; biolink:category biolink:Gene . OMIM:605652 a owl:Class ; @@ -209126,13 +216312,14 @@ OMIM:605652 a owl:Class ; PMID:15520277, PMID:15893726, PMID:28614300 ; - oboInOwl:hasDbXref UMLS:C1422092 ; oboInOwl:hasExactSynonym "FBXL2", "f-box and leucine-rich repeat protein 2", "fbl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25827 ; - skos:exactMatch HGNC_symbol:FBXL2 ; + skos:exactMatch UMLS:C1422092, + HGNC:13598, + HGNC_symbol:FBXL2 ; biolink:category biolink:Gene . OMIM:605653 a owl:Class ; @@ -209150,7 +216337,6 @@ OMIM:605653 a owl:Class ; PMID:30481285 ; RO:0002525 CHR:9606chr13q22.3 ; RO:0003303 OMIM:606220 ; - oboInOwl:hasDbXref UMLS:C1539480 ; oboInOwl:hasExactSynonym "FBXL3", "f-box and leucine-rich repeat protein 3", "f-box and leucine-rich repeat protein 3a, formerly", @@ -209158,7 +216344,9 @@ OMIM:605653 a owl:Class ; "fbl3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26224 ; - skos:exactMatch HGNC_symbol:FBXL3 ; + skos:exactMatch UMLS:C1539480, + HGNC:13599, + HGNC_symbol:FBXL3 ; biolink:category biolink:Gene . OMIM:605654 a owl:Class ; @@ -209171,13 +216359,14 @@ OMIM:605654 a owl:Class ; PMID:23993194 ; RO:0002525 CHR:9606chr6q16.1-q16.2 ; RO:0003303 OMIM:615471 ; - oboInOwl:hasDbXref UMLS:C1422095 ; oboInOwl:hasExactSynonym "FBXL4", "f-box and leucine-rich repeat protein 4", "fbl4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26235 ; - skos:exactMatch HGNC_symbol:FBXL4 ; + skos:exactMatch UMLS:C1422095, + HGNC:13601, + HGNC_symbol:FBXL4 ; biolink:category biolink:Gene . OMIM:605655 a owl:Class ; @@ -209188,13 +216377,14 @@ OMIM:605655 a owl:Class ; PMID:15520277, PMID:19762596, PMID:19762597 ; - oboInOwl:hasDbXref UMLS:C1422096 ; oboInOwl:hasExactSynonym "FBXL5", "f-box and leucine-rich repeat protein 5", "fbl5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26234 ; - skos:exactMatch HGNC_symbol:FBXL5 ; + skos:exactMatch UMLS:C1422096, + HGNC:13602, + HGNC_symbol:FBXL5 ; biolink:category biolink:Gene . OMIM:605656 a owl:Class ; @@ -209204,14 +216394,15 @@ OMIM:605656 a owl:Class ; PMID:10531037, PMID:10945468, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422098 ; oboInOwl:hasExactSynonym "FBXL7", "f-box and leucine-rich repeat protein 7", "fbl7", "kiaa0840" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23194 ; - skos:exactMatch HGNC_symbol:FBXL7 ; + skos:exactMatch UMLS:C1422098, + HGNC:13604, + HGNC_symbol:FBXL7 ; biolink:category biolink:Gene . OMIM:605657 a owl:Class ; @@ -209222,7 +216413,6 @@ OMIM:605657 a owl:Class ; PMID:10945468, PMID:15520277, PMID:16362057 ; - oboInOwl:hasDbXref UMLS:C1422100 ; oboInOwl:hasExactSynonym "KDM2A", "cxxc finger protein 8", "f-box and leucine-rich repeat protein 11", @@ -209231,7 +216421,9 @@ OMIM:605657 a owl:Class ; "lysine demethylase 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22992 ; - skos:exactMatch HGNC_symbol:KDM2A ; + skos:exactMatch UMLS:C1422100, + HGNC:13606, + HGNC_symbol:KDM2A ; biolink:category biolink:Gene . OMIM:605658 a owl:Class ; @@ -209246,26 +216438,28 @@ OMIM:605658 a owl:Class ; PMID:26762460, PMID:30022162, PMID:30022164 ; - oboInOwl:hasDbXref UMLS:C1825594 ; oboInOwl:hasExactSynonym "IL25", "interleukin 17e", "interleukin 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64806 ; - skos:exactMatch HGNC_symbol:IL25 ; + skos:exactMatch UMLS:C1825594, + HGNC:13765, + HGNC_symbol:IL25 ; biolink:category biolink:Gene . OMIM:605659 a owl:Class ; rdfs:label "CLEC2D" ; IAO:0000142 PMID:10541800 ; - oboInOwl:hasDbXref UMLS:C1539089 ; oboInOwl:hasExactSynonym "CLEC2D", "c-type lectin domain family 2, member d", "lectin-like transcript 1", "natural killer cell lectin-like receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29121 ; - skos:exactMatch HGNC_symbol:CLEC2D ; + skos:exactMatch UMLS:C1539089, + HGNC:14351, + HGNC_symbol:CLEC2D ; biolink:category biolink:Gene . OMIM:605660 a owl:Class ; @@ -209273,13 +216467,14 @@ OMIM:605660 a owl:Class ; IAO:0000142 PMID:10209023, PMID:9545376, PMID:9630229 ; - oboInOwl:hasDbXref UMLS:C1826568 ; oboInOwl:hasExactSynonym "PFDN6", "ke2, mouse, homolog of", "prefoldin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10471 ; - skos:exactMatch HGNC_symbol:PFDN6 ; + skos:exactMatch UMLS:C1826568, + HGNC:4926, + HGNC_symbol:PFDN6 ; biolink:category biolink:Gene . OMIM:605661 a owl:Class ; @@ -209289,39 +216484,42 @@ OMIM:605661 a owl:Class ; PMID:7655020, PMID:8378351, PMID:9599022 ; - oboInOwl:hasDbXref UMLS:C1367699 ; oboInOwl:hasExactSynonym "TRIM13", "leu5", "ret finger protein 2", "tripartite motif-containing protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10206 ; - skos:exactMatch HGNC_symbol:TRIM13 ; + skos:exactMatch UMLS:C1367699, + HGNC:9976, + HGNC_symbol:TRIM13 ; biolink:category biolink:Gene . OMIM:605662 a owl:Class ; rdfs:label "RAB36" ; IAO:0000142 PMID:10607907, PMID:9920784 ; - oboInOwl:hasDbXref UMLS:C1419204 ; oboInOwl:hasExactSynonym "RAB36", "ras-associated protein rab36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9609 ; - skos:exactMatch HGNC_symbol:RAB36 ; + skos:exactMatch UMLS:C1419204, + HGNC:9775, + HGNC_symbol:RAB36 ; biolink:category biolink:Gene . OMIM:605663 a owl:Class ; rdfs:label "RSPH14" ; IAO:0000142 PMID:10607907 ; - oboInOwl:hasDbXref UMLS:C1421992 ; oboInOwl:hasExactSynonym "RSPH14", "radial spoke head 14 homolog", "radial spoke head 14, chlamydomonas, homolog of", "rhabdoid tumor deletion region gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27156 ; - skos:exactMatch HGNC_symbol:RSPH14 ; + skos:exactMatch UMLS:C1421992, + HGNC:13437, + HGNC_symbol:RSPH14 ; biolink:category biolink:Gene . OMIM:605664 a owl:Class ; @@ -209331,14 +216529,15 @@ OMIM:605664 a owl:Class ; PMID:25301629 ; RO:0002525 CHR:9606chr5q31.2 ; RO:0003303 OMIM:619433 ; - oboInOwl:hasDbXref UMLS:C1419216 ; oboInOwl:hasExactSynonym "KIF20A", "kinesin family member 20a", "rab6-interacting protein, kinesin-like", "rabkinesin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10112 ; - skos:exactMatch HGNC_symbol:KIF20A ; + skos:exactMatch UMLS:C1419216, + HGNC:9787, + HGNC_symbol:KIF20A ; biolink:category biolink:Gene . OMIM:605665 a owl:Class ; @@ -209350,26 +216549,28 @@ OMIM:605666 a owl:Class ; IAO:0000142 PMID:10851239, PMID:10913337, PMID:15328359 ; - oboInOwl:hasDbXref UMLS:C1425412 ; oboInOwl:hasExactSynonym "CYSLTR2", "cyslt2", "cysteinyl leukotriene receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57105 ; - skos:exactMatch HGNC_symbol:CYSLTR2 ; + skos:exactMatch UMLS:C1425412, + HGNC:18274, + HGNC_symbol:CYSLTR2 ; biolink:category biolink:Gene . OMIM:605667 a owl:Class ; rdfs:label "RGL1" ; IAO:0000142 PMID:10231032, PMID:10760592 ; - oboInOwl:hasDbXref UMLS:C1428954 ; oboInOwl:hasExactSynonym "RGL1", "ral guanine nucleotide dissociation stimulator-like 1", "ralgds-like gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23179 ; - skos:exactMatch HGNC_symbol:RGL1 ; + skos:exactMatch UMLS:C1428954, + HGNC:30281, + HGNC_symbol:RGL1 ; biolink:category biolink:Gene . OMIM:605668 a owl:Class ; @@ -209380,7 +216581,6 @@ OMIM:605668 a owl:Class ; PMID:10965118, PMID:12054559, PMID:15987683 ; - oboInOwl:hasDbXref UMLS:C1412728 ; oboInOwl:hasExactSynonym "BACE2", "aspartic-like protease, 56-kd", "beta-site amyloid beta a4 precursor protein-cleaving enzyme 2", @@ -209388,39 +216588,43 @@ OMIM:605668 a owl:Class ; "down syndrome region aspartic protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25825 ; - skos:exactMatch HGNC_symbol:BACE2 ; + skos:exactMatch UMLS:C1412728, + HGNC:934, + HGNC_symbol:BACE2 ; biolink:category biolink:Gene . OMIM:605669 a owl:Class ; rdfs:label "PBOV1" ; IAO:0000142 PMID:11156405 ; - oboInOwl:hasDbXref UMLS:C1427300 ; oboInOwl:hasExactSynonym "PBOV1", "prostate and breast cancer overexpressed 1", "uc28", "uroc28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59351 ; - skos:exactMatch HGNC_symbol:PBOV1 ; + skos:exactMatch UMLS:C1427300, + HGNC:21079, + HGNC_symbol:PBOV1 ; biolink:category biolink:Gene . OMIM:605671 a owl:Class ; rdfs:label "DMXL1" ; IAO:0000142 PMID:10708522 ; - oboInOwl:hasDbXref UMLS:C1414089 ; oboInOwl:hasExactSynonym "DMXL1", "dmx-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1657 ; - skos:exactMatch HGNC_symbol:DMXL1 ; + skos:exactMatch UMLS:C1414089, + HGNC:2937, + HGNC_symbol:DMXL1 ; biolink:category biolink:Gene . OMIM:605672 a owl:Class ; rdfs:label "cerebellar ataxia and hypergonadotropic hypogonadism" ; IAO:0000142 PMID:11170090, PMID:1248181 ; - oboInOwl:hasDbXref UMLS:C1854064 ; - oboInOwl:hasExactSynonym "cerebellar ataxia and hypergonadotropic hypogonadism" . + oboInOwl:hasExactSynonym "cerebellar ataxia and hypergonadotropic hypogonadism" ; + skos:exactMatch UMLS:C1854064 . OMIM:605673 a owl:Class ; rdfs:label "BTG4" ; @@ -209428,21 +216632,21 @@ OMIM:605673 a owl:Class ; PMID:32502391 ; RO:0002525 CHR:9606chr11q23.1 ; RO:0003303 OMIM:619009 ; - oboInOwl:hasDbXref UMLS:C1422240, - UMLS:C5436597 ; oboInOwl:hasExactSynonym "BTG4", "b-cell antiproliferation factor 4", "b-cell translocation gene 4", "pc3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54766 ; - skos:exactMatch HGNC_symbol:BTG4 ; + skos:exactMatch UMLS:C1422240, + UMLS:C5436597, + HGNC:13862, + HGNC_symbol:BTG4 ; biolink:category biolink:Gene . OMIM:605674 a owl:Class ; rdfs:label "BTG3" ; IAO:0000142 PMID:9632145 ; - oboInOwl:hasDbXref UMLS:C1412840 ; oboInOwl:hasExactSynonym "BTG3", "abundant 1n neuroepithelium area", "b-cell antiproliferation factor 3", @@ -209450,7 +216654,9 @@ OMIM:605674 a owl:Class ; "tob5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10950 ; - skos:exactMatch HGNC_symbol:BTG3 ; + skos:exactMatch UMLS:C1412840, + HGNC:1132, + HGNC_symbol:BTG3 ; biolink:category biolink:Gene . OMIM:605675 a owl:Class ; @@ -209458,13 +216664,14 @@ OMIM:605675 a owl:Class ; IAO:0000142 PMID:10085091, PMID:10320776, PMID:9853615 ; - oboInOwl:hasDbXref UMLS:C1419416 ; oboInOwl:hasExactSynonym "RNF14", "androgen receptor-associated protein 54", "ring finger protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9604 ; - skos:exactMatch HGNC_symbol:RNF14 ; + skos:exactMatch UMLS:C1419416, + HGNC:10058, + HGNC_symbol:RNF14 ; biolink:category biolink:Gene . OMIM:605676 a owl:Class ; @@ -209477,11 +216684,11 @@ OMIM:605676 a owl:Class ; PMID:9738775, PMID:9864371, PMID:9887343 ; - oboInOwl:hasDbXref UMLS:C1854063 ; oboInOwl:hasExactSynonym "DCWHK", "cardiomyopathy, dilated, with woolly hair and keratoderma", "carvajal syndrome", "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" ; + skos:exactMatch UMLS:C1854063 ; biolink:category biolink:Disease . OMIM:605677 a owl:Class ; @@ -209489,14 +216696,15 @@ OMIM:605677 a owl:Class ; IAO:0000142 PMID:11127823, PMID:17762044, PMID:9722683 ; - oboInOwl:hasDbXref UMLS:C1424354 ; oboInOwl:hasExactSynonym "ACSL5", "acyl-coa synthetase 5", "acyl-coa synthetase long chain family, member 5", "fatty acid coa ligase, long chain 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51703 ; - skos:exactMatch HGNC_symbol:ACSL5 ; + skos:exactMatch UMLS:C1424354, + HGNC:16526, + HGNC_symbol:ACSL5 ; biolink:category biolink:Gene . OMIM:605678 a owl:Class ; @@ -209508,7 +216716,6 @@ OMIM:605678 a owl:Class ; PMID:15163635, PMID:22466288, PMID:9860302 ; - oboInOwl:hasDbXref UMLS:C1826259 ; oboInOwl:hasExactSynonym "MLXIPL", "carbohydrate response element-binding protein, rat, homolog of", "mlx-interacting protein-like", @@ -209516,20 +216723,23 @@ OMIM:605678 a owl:Class ; "williams-beuren syndrome chromosome region 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51085 ; - skos:exactMatch HGNC_symbol:MLXIPL ; + skos:exactMatch UMLS:C1826259, + HGNC:12744, + HGNC_symbol:MLXIPL ; biolink:category biolink:Gene . OMIM:605679 a owl:Class ; rdfs:label "IL26" ; IAO:0000142 PMID:10729163, PMID:14764663 ; - oboInOwl:hasDbXref UMLS:C1424756 ; oboInOwl:hasExactSynonym "IL26", "ak155", "interleukin 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55801 ; - skos:exactMatch HGNC_symbol:IL26 ; + skos:exactMatch UMLS:C1424756, + HGNC:17119, + HGNC_symbol:IL26 ; biolink:category biolink:Gene . OMIM:605680 a owl:Class ; @@ -209541,14 +216751,15 @@ OMIM:605680 a owl:Class ; PMID:17099699, PMID:20033039, PMID:20033040 ; - oboInOwl:hasDbXref UMLS:C1412741 ; oboInOwl:hasExactSynonym "BAZ1A", "acf1, drosophila, homolog of", "bromodomain adjacent to zinc finger domain, 1a", "wcrf180" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11177 ; - skos:exactMatch HGNC_symbol:BAZ1A ; + skos:exactMatch UMLS:C1412741, + HGNC:960, + HGNC_symbol:BAZ1A ; biolink:category biolink:Gene . OMIM:605681 a owl:Class ; @@ -209561,50 +216772,54 @@ OMIM:605681 a owl:Class ; PMID:26755828, PMID:9828126, PMID:9858827 ; - oboInOwl:hasDbXref UMLS:C1412742 ; oboInOwl:hasExactSynonym "BAZ1B", "bromodomain adjacent to zinc finger domain, 1b", "williams syndrome transcription factor", "williams-beuren syndrome chromosome region 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9031 ; - skos:exactMatch HGNC_symbol:BAZ1B ; + skos:exactMatch UMLS:C1412742, + HGNC:961, + HGNC_symbol:BAZ1B ; biolink:category biolink:Gene . OMIM:605682 a owl:Class ; rdfs:label "BAZ2A" ; IAO:0000142 PMID:10662543 ; - oboInOwl:hasDbXref UMLS:C1412743 ; oboInOwl:hasExactSynonym "BAZ2A", "bromodomain adjacent to zinc finger domain, 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11176 ; - skos:exactMatch HGNC_symbol:BAZ2A ; + skos:exactMatch UMLS:C1412743, + HGNC:962, + HGNC_symbol:BAZ2A ; biolink:category biolink:Gene . OMIM:605683 a owl:Class ; rdfs:label "BAZ2B" ; IAO:0000142 PMID:10662543, PMID:32103178 ; - oboInOwl:hasDbXref UMLS:C1412744 ; oboInOwl:hasExactSynonym "BAZ2B", "bromodomain adjacent to zinc finger domain, 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29994 ; - skos:exactMatch HGNC_symbol:BAZ2B ; + skos:exactMatch UMLS:C1412744, + HGNC:963, + HGNC_symbol:BAZ2B ; biolink:category biolink:Gene . OMIM:605684 a owl:Class ; rdfs:label "TRIM34" ; IAO:0000142 PMID:11013086 ; - oboInOwl:hasDbXref UMLS:C1419421 ; oboInOwl:hasExactSynonym "TRIM34", "interferon-responsive finger protein 1", "ring finger protein 21", "tripartite motif-containing protein 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53840 ; - skos:exactMatch HGNC_symbol:TRIM34 ; + skos:exactMatch UMLS:C1419421, + HGNC:10063, + HGNC_symbol:TRIM34 ; biolink:category biolink:Gene . OMIM:605685 a owl:Class ; @@ -209622,7 +216837,6 @@ OMIM:605686 a owl:Class ; PMID:22489104, PMID:8098218, PMID:9653156 ; - oboInOwl:hasDbXref UMLS:C1416373 ; oboInOwl:hasExactSynonym "CADM1", "bl2", "cell adhesion molecule 1", @@ -209635,19 +216849,22 @@ OMIM:605686 a owl:Class ; "tumor suppressor 1n lung cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23705 ; - skos:exactMatch HGNC_symbol:CADM1 ; + skos:exactMatch UMLS:C1416373, + HGNC:5951, + HGNC_symbol:CADM1 ; biolink:category biolink:Gene . OMIM:605687 a owl:Class ; rdfs:label "IL19" ; IAO:0000142 PMID:11163236, PMID:11196675 ; - oboInOwl:hasDbXref UMLS:C1334110 ; oboInOwl:hasExactSynonym "IL19", "interleukin 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29949 ; - skos:exactMatch HGNC_symbol:IL19 ; + skos:exactMatch UMLS:C1334110, + HGNC:5990, + HGNC_symbol:IL19 ; biolink:category biolink:Gene . OMIM:605688 a owl:Class ; @@ -209655,25 +216872,27 @@ OMIM:605688 a owl:Class ; IAO:0000142 PMID:18212740, PMID:9645480, PMID:9886090 ; - oboInOwl:hasDbXref UMLS:C1413680 ; oboInOwl:hasExactSynonym "CPNE6", "copine 6", "n-copine" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9362 ; - skos:exactMatch HGNC_symbol:CPNE6 ; + skos:exactMatch UMLS:C1413680, + HGNC:2319, + HGNC_symbol:CPNE6 ; biolink:category biolink:Gene . OMIM:605689 a owl:Class ; rdfs:label "CPNE7" ; IAO:0000142 PMID:10534407, PMID:18212740 ; - oboInOwl:hasDbXref UMLS:C1332778 ; oboInOwl:hasExactSynonym "CPNE7", "copine 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27132 ; - skos:exactMatch HGNC_symbol:CPNE7 ; + skos:exactMatch UMLS:C1332778, + HGNC:2320, + HGNC_symbol:CPNE7 ; biolink:category biolink:Gene . OMIM:605690 a owl:Class ; @@ -209682,13 +216901,14 @@ OMIM:605690 a owl:Class ; PMID:29374058 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:619325 ; - oboInOwl:hasDbXref UMLS:C1333679 ; oboInOwl:hasExactSynonym "BICRA", "brd4-interacting chromatin remodeling complex-associated protein", "glioma tumor suppressor candidate region gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29998 ; - skos:exactMatch HGNC_symbol:BICRA ; + skos:exactMatch UMLS:C1333679, + HGNC:4332, + HGNC_symbol:BICRA ; biolink:category biolink:Gene . OMIM:605691 a owl:Class ; @@ -209696,14 +216916,15 @@ OMIM:605691 a owl:Class ; IAO:0000142 PMID:10708517, PMID:15355975, PMID:21804542 ; - oboInOwl:hasDbXref UMLS:C1333682 ; oboInOwl:hasExactSynonym "NOP53", "glioma tumor suppressor candidate region gene 2", "protein interacting with pten c terminus 1", "ribosome biogenesis factor nop53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29997 ; - skos:exactMatch HGNC_symbol:NOP53 ; + skos:exactMatch UMLS:C1333682, + HGNC:4333, + HGNC_symbol:NOP53 ; biolink:category biolink:Gene . OMIM:605692 a owl:Class ; @@ -209722,8 +216943,6 @@ OMIM:605692 a owl:Class ; PMID:27020697 ; RO:0002525 CHR:9606chr15q21.2 ; RO:0003303 OMIM:105500 ; - oboInOwl:hasDbXref UMLS:C1425224, - UMLS:C3468043 ; oboInOwl:hasExactSynonym "TRPM7", "chak", "long transient receptor potential channel 7", @@ -209732,18 +216951,22 @@ OMIM:605692 a owl:Class ; "trpm7/cyp19a1 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54822 ; - skos:exactMatch HGNC_symbol:TRPM7 ; + skos:exactMatch UMLS:C1425224, + UMLS:C3468043, + HGNC:17994, + HGNC_symbol:TRPM7 ; biolink:category biolink:Gene . OMIM:605693 a owl:Class ; rdfs:label "RAB30" ; IAO:0000142 PMID:8863739 ; - oboInOwl:hasDbXref UMLS:C1419199 ; oboInOwl:hasExactSynonym "RAB30", "ras-associated protein rab30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27314 ; - skos:exactMatch HGNC_symbol:RAB30 ; + skos:exactMatch UMLS:C1419199, + HGNC:9770, + HGNC_symbol:RAB30 ; biolink:category biolink:Gene . OMIM:605694 a owl:Class ; @@ -209751,12 +216974,13 @@ OMIM:605694 a owl:Class ; IAO:0000142 PMID:11784320, PMID:21586568, PMID:8863739 ; - oboInOwl:hasDbXref UMLS:C1419200 ; oboInOwl:hasExactSynonym "RAB31", "ras-associated protein rab31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11031 ; - skos:exactMatch HGNC_symbol:RAB31 ; + skos:exactMatch UMLS:C1419200, + HGNC:9771, + HGNC_symbol:RAB31 ; biolink:category biolink:Gene . OMIM:605695 a owl:Class ; @@ -209765,27 +216989,29 @@ OMIM:605695 a owl:Class ; PMID:12576321, PMID:15102850, PMID:7590229 ; - oboInOwl:hasDbXref UMLS:C1539116 ; oboInOwl:hasExactSynonym "BLOC1S4", "biogenesis of lysosome-related organelles complex 1, subunit 4", "bloc1, subunit 4", "cappuccino, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55330 ; - skos:exactMatch HGNC_symbol:BLOC1S4 ; + skos:exactMatch UMLS:C1539116, + HGNC:24206, + HGNC_symbol:BLOC1S4 ; biolink:category biolink:Gene . OMIM:605696 a owl:Class ; rdfs:label "KCNG2" ; IAO:0000142 PMID:10551266, PMID:11181995 ; - oboInOwl:hasDbXref UMLS:C1416570 ; oboInOwl:hasExactSynonym "KCNG2", "kv6.2", "potassium channel, voltage-gated, subfamily g, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26251 ; - skos:exactMatch HGNC_symbol:KCNG2 ; + skos:exactMatch UMLS:C1416570, + HGNC:6249, + HGNC_symbol:KCNG2 ; biolink:category biolink:Gene . OMIM:605697 a owl:Class ; @@ -209795,14 +217021,15 @@ OMIM:605697 a owl:Class ; PMID:16901903, PMID:25745066, PMID:25838370 ; - oboInOwl:hasDbXref UMLS:C1423032 ; oboInOwl:hasExactSynonym "ULBP1", "mult1", "retinoic acid early transcript 1i", "ul16-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80329 ; - skos:exactMatch HGNC_symbol:ULBP1 ; + skos:exactMatch UMLS:C1423032, + HGNC:14893, + HGNC_symbol:ULBP1 ; biolink:category biolink:Gene . OMIM:605698 a owl:Class ; @@ -209810,13 +217037,14 @@ OMIM:605698 a owl:Class ; IAO:0000142 PMID:11239445, PMID:11777960, PMID:19688209 ; - oboInOwl:hasDbXref UMLS:C1423033 ; oboInOwl:hasExactSynonym "ULBP2", "retinoic acid early transcript 1h", "ul16-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80328 ; - skos:exactMatch HGNC_symbol:ULBP2 ; + skos:exactMatch UMLS:C1423033, + HGNC:14894, + HGNC_symbol:ULBP2 ; biolink:category biolink:Gene . OMIM:605699 a owl:Class ; @@ -209826,13 +217054,14 @@ OMIM:605699 a owl:Class ; PMID:19688209, PMID:20596022, PMID:21320692 ; - oboInOwl:hasDbXref UMLS:C1423034 ; oboInOwl:hasExactSynonym "ULBP3", "retinoic acid early transcript 1n", "ul16-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79465 ; - skos:exactMatch HGNC_symbol:ULBP3 ; + skos:exactMatch UMLS:C1423034, + HGNC:14895, + HGNC_symbol:ULBP3 ; biolink:category biolink:Gene . OMIM:605700 a owl:Class ; @@ -209840,7 +217069,6 @@ OMIM:605700 a owl:Class ; IAO:0000142 PMID:11006080, PMID:17601797, PMID:26363554 ; - oboInOwl:hasDbXref UMLS:C1419423 ; oboInOwl:hasExactSynonym "TRIM39", "ring finger protein 23, formerly", "testis-abundant finger protein", @@ -209850,14 +217078,15 @@ OMIM:605700 a owl:Class ; "tripartite motif-containing protein 39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56658 ; - skos:exactMatch HGNC_symbol:TRIM39 ; + skos:exactMatch UMLS:C1419423, + HGNC:10065, + HGNC_symbol:TRIM39 ; biolink:category biolink:Gene . OMIM:605701 a owl:Class ; rdfs:label "TRIM10" ; IAO:0000142 PMID:10207104, PMID:9271628 ; - oboInOwl:hasDbXref UMLS:C1419430 ; oboInOwl:hasExactSynonym "TRIM10", "hematopoietic ring finger 1", "rfb30", @@ -209865,32 +217094,36 @@ OMIM:605701 a owl:Class ; "tripartite motif-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10107 ; - skos:exactMatch HGNC_symbol:TRIM10 ; + skos:exactMatch UMLS:C1419430, + HGNC:10072, + HGNC_symbol:TRIM10 ; biolink:category biolink:Gene . OMIM:605702 a owl:Class ; rdfs:label "LYVE1" ; IAO:0000142 PMID:10037799 ; - oboInOwl:hasDbXref UMLS:C1422841 ; oboInOwl:hasExactSynonym "LYVE1", "lymphatic vessel endothelial hyaluronan receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10894 ; - skos:exactMatch HGNC_symbol:LYVE1 ; + skos:exactMatch UMLS:C1422841, + HGNC:14687, + HGNC_symbol:LYVE1 ; biolink:category biolink:Gene . OMIM:605703 a owl:Class ; rdfs:label "VAPA" ; IAO:0000142 PMID:9657962, PMID:9920726 ; - oboInOwl:hasDbXref UMLS:C1421424 ; oboInOwl:hasExactSynonym "VAPA", "vamp-associated protein a", "vamp-associated protein, 33-kd", "vesicle-associated membrane protein-associated protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9218 ; - skos:exactMatch HGNC_symbol:VAPA ; + skos:exactMatch UMLS:C1421424, + HGNC:12648, + HGNC_symbol:VAPA ; biolink:category biolink:Gene . OMIM:605704 a owl:Class ; @@ -209912,7 +217145,6 @@ OMIM:605704 a owl:Class ; PMID:9920726 ; RO:0002525 CHR:9606chr20q13.32 ; RO:0003303 OMIM:182980 ; - oboInOwl:hasDbXref UMLS:C1421425 ; oboInOwl:hasExactSynonym "VAPBC", "dvap33a, drosophila, homolog of", "vamp-associated protein B", @@ -209921,7 +217153,9 @@ OMIM:605704 a owl:Class ; "vesicle-associated membrane protein-associated protein B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9217 ; - skos:exactMatch HGNC_symbol:VAPB ; + skos:exactMatch UMLS:C1421425, + HGNC:12649, + HGNC_symbol:VAPB ; biolink:category biolink:Gene . OMIM:605705 a owl:Class ; @@ -209936,15 +217170,16 @@ OMIM:605705 a owl:Class ; PMID:7893599 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:616341 ; - oboInOwl:hasDbXref UMLS:C1420279, - UMLS:C4225360 ; oboInOwl:hasExactSynonym "SIK1", "msk, mouse, homolog of", "salt-inducible kinase 1", "snf1-like kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150094 ; - skos:exactMatch HGNC_symbol:SIK1 ; + skos:exactMatch UMLS:C1420279, + UMLS:C4225360, + HGNC:11142, + HGNC_symbol:SIK1 ; biolink:category biolink:Gene . OMIM:605706 a owl:Class ; @@ -209965,9 +217200,6 @@ OMIM:605706 a owl:Class ; PMID:31578523 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:263650 ; - oboInOwl:hasDbXref UMLS:C0406733, - UMLS:C1538842, - UMLS:C1849718 ; oboInOwl:hasExactSynonym "RIPK4", "ankyrin repeat domain-containing protein 3", "pkc-delta-interacting protein kinase", @@ -209975,7 +217207,11 @@ OMIM:605706 a owl:Class ; "rip4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54101 ; - skos:exactMatch HGNC_symbol:RIPK4 ; + skos:exactMatch UMLS:C0406733, + UMLS:C1538842, + UMLS:C1849718, + HGNC:496, + HGNC_symbol:RIPK4 ; biolink:category biolink:Gene . OMIM:605707 a owl:Class ; @@ -209988,7 +217224,6 @@ OMIM:605708 a owl:Class ; PMID:11242047, PMID:16478718, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1422770 ; oboInOwl:hasExactSynonym "ARHGEF11", "glutamate transporter eaat4-associated protein 48", "kiaa0380", @@ -209996,7 +217231,9 @@ OMIM:605708 a owl:Class ; "rho guanine nucleotide exchange factor 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9826 ; - skos:exactMatch HGNC_symbol:ARHGEF11 ; + skos:exactMatch UMLS:C1422770, + HGNC:14580, + HGNC_symbol:ARHGEF11 ; biolink:category biolink:Gene . OMIM:605709 a owl:Class ; @@ -210004,7 +217241,6 @@ OMIM:605709 a owl:Class ; IAO:0000142 PMID:11242046, PMID:12119102, PMID:16430862 ; - oboInOwl:hasDbXref UMLS:C1538931 ; oboInOwl:hasExactSynonym "ARL6IP5", "adp-ribosylation factor-like gtpase 6-interacting protein 5", "glutamate transporter eaac1-associated protein", @@ -210013,7 +217249,9 @@ OMIM:605709 a owl:Class ; "pra1 domain family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10550 ; - skos:exactMatch HGNC_symbol:ARL6IP5 ; + skos:exactMatch UMLS:C1538931, + HGNC:16937, + HGNC_symbol:ARL6IP5 ; biolink:category biolink:Gene . OMIM:605710 a owl:Class ; @@ -210023,13 +217261,14 @@ OMIM:605710 a owl:Class ; PMID:9490034, PMID:9576965, PMID:9883723 ; - oboInOwl:hasDbXref UMLS:C1415049 ; oboInOwl:hasExactSynonym "GFRA3", "gdnf family receptor alpha-3", "glial cell line-derived neurotrophic factor receptor alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2676 ; - skos:exactMatch HGNC_symbol:GFRA3 ; + skos:exactMatch UMLS:C1415049, + HGNC:4245, + HGNC_symbol:GFRA3 ; biolink:category biolink:Gene . OMIM:605712 a owl:Class ; @@ -210057,17 +217296,18 @@ OMIM:605712 a owl:Class ; PMID:9363775 ; RO:0002525 CHR:9606chr9q22.31 ; RO:0003303 OMIM:162400 ; - oboInOwl:hasDbXref UMLS:C1420390, - UMLS:C4015968, - UMLS:C5231533, - UMLS:C5235211 ; oboInOwl:hasExactSynonym "SPTLC1", "lcb1", "serine palmitoyltransferase, long-chain base subunit 1", "spt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10558 ; - skos:exactMatch HGNC_symbol:SPTLC1 ; + skos:exactMatch UMLS:C1420390, + UMLS:C4015968, + UMLS:C5231533, + UMLS:C5235211, + HGNC:11277, + HGNC_symbol:SPTLC1 ; biolink:category biolink:Gene . OMIM:605713 a owl:Class ; @@ -210089,7 +217329,6 @@ OMIM:605713 a owl:Class ; PMID:9858821 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:613640 ; - oboInOwl:hasDbXref UMLS:C1420391 ; oboInOwl:hasExactSynonym "SPTLC2", "kiaa0526", "lcb2a", @@ -210097,7 +217336,9 @@ OMIM:605713 a owl:Class ; "spt2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9517 ; - skos:exactMatch HGNC_symbol:SPTLC2 ; + skos:exactMatch UMLS:C1420391, + HGNC:11278, + HGNC_symbol:SPTLC2 ; biolink:category biolink:Gene . OMIM:605715 a owl:Class ; @@ -210108,13 +217349,14 @@ OMIM:605715 a owl:Class ; PMID:14764704, PMID:18194267, PMID:19584290 ; - oboInOwl:hasDbXref UMLS:C1540293 ; oboInOwl:hasExactSynonym "CD276", "b7 homolog 3", "cd276 antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80381 ; - skos:exactMatch HGNC_symbol:CD276 ; + skos:exactMatch UMLS:C1540293, + HGNC:19137, + HGNC_symbol:CD276 ; biolink:category biolink:Gene . OMIM:605716 a owl:Class ; @@ -210122,12 +217364,13 @@ OMIM:605716 a owl:Class ; IAO:0000142 PMID:23647072, PMID:24133262, PMID:9738473 ; - oboInOwl:hasDbXref UMLS:C1416575 ; oboInOwl:hasExactSynonym "KCNH5", "potassium channel, voltage-gated, subfamily h, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27133 ; - skos:exactMatch HGNC_symbol:KCNH5 ; + skos:exactMatch UMLS:C1416575, + HGNC:6254, + HGNC_symbol:KCNH5 ; biolink:category biolink:Gene . OMIM:605717 a owl:Class ; @@ -210142,7 +217385,6 @@ OMIM:605717 a owl:Class ; PMID:25786178, PMID:28700579, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1424734 ; oboInOwl:hasExactSynonym "ICOSLG", "b7 homolog 2", "b7-related protein 1", @@ -210151,7 +217393,9 @@ OMIM:605717 a owl:Class ; "inducible t-cell costimulator ligand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23308 ; - skos:exactMatch HGNC_symbol:ICOSLG ; + skos:exactMatch UMLS:C1424734, + HGNC:17087, + HGNC_symbol:ICOSLG ; biolink:category biolink:Gene . OMIM:605718 a owl:Class ; @@ -210159,7 +217403,6 @@ OMIM:605718 a owl:Class ; IAO:0000142 PMID:10235266, PMID:10235267, PMID:15175163 ; - oboInOwl:hasDbXref UMLS:C1537675 ; oboInOwl:hasExactSynonym "MED4", "hspc126", "mediator complex subunit 4", @@ -210168,7 +217411,9 @@ OMIM:605718 a owl:Class ; "vitamin d receptor-interacting protein, 36-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29079 ; - skos:exactMatch HGNC_symbol:MED4 ; + skos:exactMatch UMLS:C1537675, + HGNC:17903, + HGNC_symbol:MED4 ; biolink:category biolink:Gene . OMIM:605719 a owl:Class ; @@ -210179,7 +217424,6 @@ OMIM:605719 a owl:Class ; PMID:12514734, PMID:15153499, PMID:24505132 ; - oboInOwl:hasDbXref UMLS:C1825793 ; oboInOwl:hasExactSynonym "LAT2", "linker for activation of B cells", "linker for activation of t cells family, member 2", @@ -210187,7 +217431,9 @@ OMIM:605719 a owl:Class ; "williams-beuren syndrome chromosome region 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7462 ; - skos:exactMatch HGNC_symbol:LAT2 ; + skos:exactMatch UMLS:C1825793, + HGNC:12749, + HGNC_symbol:LAT2 ; biolink:category biolink:Gene . OMIM:605720 a owl:Class ; @@ -210198,13 +217444,14 @@ OMIM:605720 a owl:Class ; PMID:30290154 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:618381 ; - oboInOwl:hasDbXref UMLS:C1416597 ; oboInOwl:hasExactSynonym "KCNK4", "potassium channel, subfamily k, member 4", "traak" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50801 ; - skos:exactMatch HGNC_symbol:KCNK4 ; + skos:exactMatch UMLS:C1416597, + HGNC:6279, + HGNC_symbol:KCNK4 ; biolink:category biolink:Gene . OMIM:605721 a owl:Class ; @@ -210219,14 +217466,15 @@ OMIM:605721 a owl:Class ; PMID:12817473, PMID:15343392, PMID:25119047 ; - oboInOwl:hasDbXref UMLS:C1422839 ; oboInOwl:hasExactSynonym "JAM1", "jam-a", "junction adhesion molecule 1", "junction adhesion molecule, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50848 ; - skos:exactMatch HGNC_symbol:F11R ; + skos:exactMatch UMLS:C1422839, + HGNC:14685, + HGNC_symbol:F11R ; biolink:category biolink:Gene . OMIM:605722 a owl:Class ; @@ -210238,13 +217486,14 @@ OMIM:605722 a owl:Class ; PMID:21047793 ; RO:0002525 CHR:9606chr17q24.3 ; RO:0003303 OMIM:619406 ; - oboInOwl:hasDbXref UMLS:C1416583 ; oboInOwl:hasExactSynonym "KCNJ16", "kir5.1", "potassium channel, inwardly rectifying, subfamily j, member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3773 ; - skos:exactMatch HGNC_symbol:KCNJ16 ; + skos:exactMatch UMLS:C1416583, + HGNC:6262, + HGNC_symbol:KCNJ16 ; biolink:category biolink:Gene . OMIM:605723 a owl:Class ; @@ -210253,7 +217502,6 @@ OMIM:605723 a owl:Class ; PMID:11283156, PMID:14764726, PMID:16864790 ; - oboInOwl:hasDbXref UMLS:C1425745 ; oboInOwl:hasExactSynonym "PDCD1LG2", "b7dc", "pdcd1 ligand 2", @@ -210261,7 +217509,9 @@ OMIM:605723 a owl:Class ; "programmed death ligand 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80380 ; - skos:exactMatch HGNC_symbol:PDCD1LG2 ; + skos:exactMatch UMLS:C1425745, + HGNC:18731, + HGNC_symbol:PDCD1LG2 ; biolink:category biolink:Gene . OMIM:605724 a owl:Class ; @@ -210275,12 +217525,12 @@ OMIM:605724 a owl:Class ; PMID:16825431, PMID:21568838, PMID:30207912 ; - oboInOwl:hasDbXref UMLS:C1838457, - ORPHA:319462 ; oboInOwl:hasExactSynonym "FANCD1", "fad1", "fanconi anemia, complementation group d1" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C1838457, + ORPHA:319462 ; biolink:category biolink:Disease . OMIM:605725 a owl:Class ; @@ -210303,49 +217553,53 @@ OMIM:605725 a owl:Class ; PMID:9488714 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:145900 ; - oboInOwl:hasDbXref UMLS:C1422198 ; oboInOwl:hasExactSynonym "PRX", "periaxin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57716 ; - skos:exactMatch HGNC_symbol:PRX ; + skos:exactMatch UMLS:C1422198, + HGNC:13797, + HGNC_symbol:PRX ; biolink:category biolink:Gene . OMIM:605729 a owl:Class ; rdfs:label "AKNA" ; IAO:0000142 PMID:11268217, PMID:30787442 ; - oboInOwl:hasDbXref UMLS:C1540197 ; oboInOwl:hasExactSynonym "AKNA", "at-hook transcription factor akna" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80709 ; - skos:exactMatch HGNC_symbol:AKNA ; + skos:exactMatch UMLS:C1540197, + HGNC:24108, + HGNC_symbol:AKNA ; biolink:category biolink:Gene . OMIM:605730 a owl:Class ; rdfs:label "SPAG6" ; IAO:0000142 PMID:10493827, PMID:12167721 ; - oboInOwl:hasDbXref UMLS:C1420339 ; oboInOwl:hasExactSynonym "SPAG6", "sperm-associated antigen 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9576 ; - skos:exactMatch HGNC_symbol:SPAG6 ; + skos:exactMatch UMLS:C1420339, + HGNC:11215, + HGNC_symbol:SPAG6 ; biolink:category biolink:Gene . OMIM:605731 a owl:Class ; rdfs:label "SPAG8" ; IAO:0000142 PMID:10500252, PMID:8788182 ; - oboInOwl:hasDbXref UMLS:C1422410 ; oboInOwl:hasExactSynonym "SPAG8", "sperm membrane protein 1", "sperm-associated antigen 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26206 ; - skos:exactMatch HGNC_symbol:SPAG8 ; + skos:exactMatch UMLS:C1422410, + HGNC:14105, + HGNC_symbol:SPAG8 ; biolink:category biolink:Gene . OMIM:605732 a owl:Class ; @@ -210356,14 +217610,15 @@ OMIM:605732 a owl:Class ; PMID:27487218, PMID:31189563, PMID:9714541 ; - oboInOwl:hasDbXref UMLS:C1422006, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "TNFRSF21", "death receptor 6", "tumor necrosis factor receptor superfamily, member 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27242 ; - skos:exactMatch HGNC_symbol:TNFRSF21 ; + skos:exactMatch UMLS:C1422006, + UMLS:C2986382, + HGNC:13469, + HGNC_symbol:TNFRSF21 ; biolink:category biolink:Gene . OMIM:605733 a owl:Class ; @@ -210371,14 +217626,15 @@ OMIM:605733 a owl:Class ; IAO:0000142 PMID:10784606, PMID:18945965, PMID:23042293 ; - oboInOwl:hasDbXref UMLS:C1854020 ; oboInOwl:hasExactSynonym "PRELID1", "preli", "preli domain-containing protein 1", "px19, chicken, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27166 ; - skos:exactMatch HGNC_symbol:PRELID1 ; + skos:exactMatch UMLS:C1854020, + HGNC:30255, + HGNC_symbol:PRELID1 ; biolink:category biolink:Gene . OMIM:605734 a owl:Class ; @@ -210387,14 +217643,15 @@ OMIM:605734 a owl:Class ; PMID:10903839, PMID:11120884, PMID:16439095 ; - oboInOwl:hasDbXref UMLS:C1420775 ; oboInOwl:hasExactSynonym "TMEFF2", "hyperplastic polyposis gene 1", "tomoregulin", "transmembrane protein with egf-like and 2 follistatin-like domains 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23671 ; - skos:exactMatch HGNC_symbol:TMEFF2 ; + skos:exactMatch UMLS:C1420775, + HGNC:11867, + HGNC_symbol:TMEFF2 ; biolink:category biolink:Gene . OMIM:605735 a owl:Class ; @@ -210407,7 +217664,6 @@ OMIM:605735 a owl:Class ; PMID:6404162, PMID:8562397, PMID:8762815 ; - oboInOwl:hasDbXref UMLS:C2751535 ; oboInOwl:hasExactSynonym "BDPLT12", "bleeding disorder, platelet-type, 12", "pghs1 deficiency", @@ -210415,6 +217671,7 @@ OMIM:605735 a owl:Class ; "platelet cyclooxygenase 1 deficiency", "prostaglandin-endoperoxide synthase 1 deficiency, platelet" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C2751535 ; biolink:category biolink:Disease . OMIM:605736 a owl:Class ; @@ -210422,7 +217679,6 @@ OMIM:605736 a owl:Class ; IAO:0000142 PMID:11281453, PMID:14738763, PMID:15159412 ; - oboInOwl:hasDbXref UMLS:C1421261 ; oboInOwl:hasExactSynonym "UBASH3A", "cbl-interacting protein 4", "suppressor of t-cell receptor signaling 2", @@ -210430,7 +217686,9 @@ OMIM:605736 a owl:Class ; "ubiquitin-associated and sh3 domain-containing protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53347 ; - skos:exactMatch HGNC_symbol:UBASH3A ; + skos:exactMatch UMLS:C1421261, + HGNC:12462, + HGNC_symbol:UBASH3A ; biolink:category biolink:Gene . OMIM:605737 a owl:Class ; @@ -210441,7 +217699,6 @@ OMIM:605737 a owl:Class ; PMID:12626761, PMID:23069480, PMID:9789055 ; - oboInOwl:hasDbXref UMLS:C1332418 ; oboInOwl:hasExactSynonym "BIRC7", "baculoviral iap repeat-containing protein 7", "inhibitor of apoptosis protein, kidney", @@ -210449,7 +217706,9 @@ OMIM:605737 a owl:Class ; "livin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79444 ; - skos:exactMatch HGNC_symbol:BIRC7 ; + skos:exactMatch UMLS:C1332418, + HGNC:13702, + HGNC_symbol:BIRC7 ; biolink:category biolink:Gene . OMIM:605739 a owl:Class ; @@ -210462,13 +217721,14 @@ OMIM:605739 a owl:Class ; PMID:9878244 ; RO:0002525 CHR:9606chr3q22.2 ; RO:0003303 OMIM:617114 ; - oboInOwl:hasDbXref UMLS:C1537514 ; oboInOwl:hasExactSynonym "KY", "kyphoscoliosis peptidase", "kyphoscoliosis, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339855 ; - skos:exactMatch HGNC_symbol:KY ; + skos:exactMatch UMLS:C1537514, + HGNC:26576, + HGNC_symbol:KY ; biolink:category biolink:Gene . OMIM:605740 a owl:Class ; @@ -210489,12 +217749,13 @@ OMIM:605740 a owl:Class ; PMID:9712543 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:269500 ; - oboInOwl:hasDbXref UMLS:C1422190 ; oboInOwl:hasExactSynonym "SOST", "sclerostin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50964 ; - skos:exactMatch HGNC_symbol:SOST ; + skos:exactMatch UMLS:C1422190, + HGNC:13771, + HGNC_symbol:SOST ; biolink:category biolink:Gene . OMIM:605741 a owl:Class ; @@ -210505,13 +217766,14 @@ OMIM:605741 a owl:Class ; PMID:21796212, PMID:27147029, PMID:8383238 ; - oboInOwl:hasDbXref UMLS:C1414233 ; oboInOwl:hasExactSynonym "GPR183", "epstein-barr virus-induced gene 2", "g protein-coupled receptor 183" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1880 ; - skos:exactMatch HGNC_symbol:GPR183 ; + skos:exactMatch UMLS:C1414233, + HGNC:3128, + HGNC_symbol:GPR183 ; biolink:category biolink:Gene . OMIM:605742 a owl:Class ; @@ -210520,13 +217782,14 @@ OMIM:605742 a owl:Class ; PMID:17543498, PMID:19896110, PMID:20466094 ; - oboInOwl:hasDbXref UMLS:C1421229 ; oboInOwl:hasExactSynonym "TUBA8", "tubulin, alpha-8", "tubulin, alpha-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51807 ; - skos:exactMatch HGNC_symbol:TUBA8 ; + skos:exactMatch UMLS:C1421229, + HGNC:12410, + HGNC_symbol:TUBA8 ; biolink:category biolink:Gene . OMIM:605744 a owl:Class ; @@ -210538,8 +217801,6 @@ OMIM:605744 a owl:Class ; PMID:9479495 ; RO:0002525 CHR:9606chr8p21.1 ; RO:0003303 OMIM:617425 ; - oboInOwl:hasDbXref UMLS:C1367595, - UMLS:C4479452 ; oboInOwl:hasExactSynonym "EXTL3", "exostosin-like 3", "exostosin-like glycosyltransferase 3", @@ -210548,19 +217809,23 @@ OMIM:605744 a owl:Class ; "reg protein receptor, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2137 ; - skos:exactMatch HGNC_symbol:EXTL3 ; + skos:exactMatch UMLS:C1367595, + UMLS:C4479452, + HGNC:3518, + HGNC_symbol:EXTL3 ; biolink:category biolink:Gene . OMIM:605745 a owl:Class ; rdfs:label "CYBRD1" ; IAO:0000142 PMID:11230685 ; - oboInOwl:hasDbXref UMLS:C1427130 ; oboInOwl:hasExactSynonym "CYBRD1", "cytochrome B reductase 1", "duodenal cytochrome B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79901 ; - skos:exactMatch HGNC_symbol:CYBRD1 ; + skos:exactMatch UMLS:C1427130, + HGNC:20797, + HGNC_symbol:CYBRD1 ; biolink:category biolink:Gene . OMIM:605747 a owl:Class ; @@ -210584,14 +217849,15 @@ OMIM:605747 a owl:Class ; PMID:7628519 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:603813 ; - oboInOwl:hasDbXref UMLS:C1537558 ; oboInOwl:hasExactSynonym "LDLRAP1", "arh gene", "ldlr adaptor protein 1", "low density lipoprotein receptor adaptor protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26119 ; - skos:exactMatch HGNC_symbol:LDLRAP1 ; + skos:exactMatch UMLS:C1537558, + HGNC:18640, + HGNC_symbol:LDLRAP1 ; biolink:category biolink:Gene . OMIM:605748 a owl:Class ; @@ -210604,7 +217870,6 @@ OMIM:605748 a owl:Class ; PMID:5453458 ; RO:0002525 CHR:9606chr16q23.2 ; RO:0003303 OMIM:115300 ; - oboInOwl:hasDbXref UMLS:C1422210 ; oboInOwl:hasExactSynonym "BCO1", "beta-carotene 15,15-prime oxygenase 1", "beta-carotene 15,15-prime-dioxygenase", @@ -210612,20 +217877,23 @@ OMIM:605748 a owl:Class ; "beta-carotene oxygenase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53630 ; - skos:exactMatch HGNC_symbol:BCO1 ; + skos:exactMatch UMLS:C1422210, + HGNC:13815, + HGNC_symbol:BCO1 ; biolink:category biolink:Gene . OMIM:605752 a owl:Class ; rdfs:label "HID1" ; IAO:0000142 PMID:11281419 ; - oboInOwl:hasDbXref UMLS:C1423692 ; oboInOwl:hasExactSynonym "HID1", "chromosome 17 open reading frame 28", "downregulated 1n multiple cancers 1", "hid1 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283987 ; - skos:exactMatch HGNC_symbol:HID1 ; + skos:exactMatch UMLS:C1423692, + HGNC:15736, + HGNC_symbol:HID1 ; biolink:category biolink:Gene . OMIM:605753 a owl:Class ; @@ -210637,13 +217905,14 @@ OMIM:605753 a owl:Class ; PMID:8428671 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:618091 ; - oboInOwl:hasDbXref UMLS:C1420360 ; oboInOwl:hasExactSynonym "SPINK2", "acrosin-trypsin inhibitor husi-ii", "serine protease inhibitor, kazal-type, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6691 ; - skos:exactMatch HGNC_symbol:SPINK2 ; + skos:exactMatch UMLS:C1420360, + HGNC:11245, + HGNC_symbol:SPINK2 ; biolink:category biolink:Gene . OMIM:605754 a owl:Class ; @@ -210657,13 +217926,14 @@ OMIM:605754 a owl:Class ; PMID:9729469 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:618548 ; - oboInOwl:hasDbXref UMLS:C1422429, - UMLS:C5231405 ; oboInOwl:hasExactSynonym "PIGQ", "phosphatidylinositol glycan anchor biosynthesis class q protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9091 ; - skos:exactMatch HGNC_symbol:PIGQ ; + skos:exactMatch UMLS:C1422429, + UMLS:C5231405, + HGNC:14135, + HGNC_symbol:PIGQ ; biolink:category biolink:Gene . OMIM:605755 a owl:Class ; @@ -210680,25 +217950,26 @@ OMIM:605755 a owl:Class ; PMID:27469900 ; RO:0002525 CHR:9606chr6p22.3 ; RO:0003303 OMIM:617394 ; - oboInOwl:hasDbXref UMLS:C1425339, - UMLS:C1857750, - UMLS:C4015542, - UMLS:C4479344 ; oboInOwl:hasExactSynonym "DCDC2", "doublecortin domain-containing protein 2", "ru2", "ru2s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51473 ; - skos:exactMatch HGNC_symbol:DCDC2 ; + skos:exactMatch UMLS:C1425339, + UMLS:C1857750, + UMLS:C4015542, + UMLS:C4479344, + HGNC:18141, + HGNC_symbol:DCDC2 ; biolink:category biolink:Gene . OMIM:605756 a owl:Class ; rdfs:label "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis" ; IAO:0000142 PMID:11223846 ; - oboInOwl:hasDbXref UMLS:C3148970 ; oboInOwl:hasExactSynonym "gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis", - "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis" . + "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis" ; + skos:exactMatch UMLS:C3148970 . OMIM:605757 a owl:Class ; rdfs:label "PELO" ; @@ -210707,13 +217978,14 @@ OMIM:605757 a owl:Class ; PMID:12556505, PMID:24581494, PMID:29643507 ; - oboInOwl:hasDbXref UMLS:C1418455 ; oboInOwl:hasExactSynonym "PELO", "pelota mrna surveillance and ribosome rescue factor", "pelota, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53918 ; - skos:exactMatch HGNC_symbol:PELO ; + skos:exactMatch UMLS:C1418455, + HGNC:8829, + HGNC_symbol:PELO ; biolink:category biolink:Gene . OMIM:605758 a owl:Class ; @@ -210723,12 +217995,13 @@ OMIM:605758 a owl:Class ; PMID:11509662, PMID:12076535, PMID:16325183 ; - oboInOwl:hasDbXref UMLS:C1423907 ; oboInOwl:hasExactSynonym "ASB1", "ankyrin repeat- and socs box-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51665 ; - skos:exactMatch HGNC_symbol:ASB1 ; + skos:exactMatch UMLS:C1423907, + HGNC:16011, + HGNC_symbol:ASB1 ; biolink:category biolink:Gene . OMIM:605759 a owl:Class ; @@ -210736,48 +218009,52 @@ OMIM:605759 a owl:Class ; IAO:0000142 PMID:11111040, PMID:12076535, PMID:16325183 ; - oboInOwl:hasDbXref UMLS:C1423908 ; oboInOwl:hasExactSynonym "ASB2", "ankyrin repeat- and socs box-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51676 ; - skos:exactMatch HGNC_symbol:ASB2 ; + skos:exactMatch UMLS:C1423908, + HGNC:16012, + HGNC_symbol:ASB2 ; biolink:category biolink:Gene . OMIM:605760 a owl:Class ; rdfs:label "ASB3" ; IAO:0000142 PMID:11111040 ; - oboInOwl:hasDbXref UMLS:C1423909 ; oboInOwl:hasExactSynonym "ASB3", "ankyrin repeat- and socs box-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51130 ; - skos:exactMatch HGNC_symbol:ASB3 ; + skos:exactMatch UMLS:C1423909, + HGNC:16013, + HGNC_symbol:ASB3 ; biolink:category biolink:Gene . OMIM:605761 a owl:Class ; rdfs:label "ASB4" ; IAO:0000142 PMID:11111040, PMID:21955513 ; - oboInOwl:hasDbXref UMLS:C1423906 ; oboInOwl:hasExactSynonym "ASB4", "ankyrin repeat- and socs box-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51666 ; - skos:exactMatch HGNC_symbol:ASB4 ; + skos:exactMatch UMLS:C1423906, + HGNC:16009, + HGNC_symbol:ASB4 ; biolink:category biolink:Gene . OMIM:605762 a owl:Class ; rdfs:label "MOK" ; IAO:0000142 PMID:10421840, PMID:8781117 ; - oboInOwl:hasDbXref UMLS:C1366622 ; oboInOwl:hasExactSynonym "MOK", "mok protein kinase", "renal tumor antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5891 ; - skos:exactMatch HGNC_symbol:MOK ; + skos:exactMatch UMLS:C1366622, + HGNC:9833, + HGNC_symbol:MOK ; biolink:category biolink:Gene . OMIM:605763 a owl:Class ; @@ -210787,13 +218064,14 @@ OMIM:605763 a owl:Class ; PMID:28434495 ; RO:0002525 CHR:9606chr1p36.23 ; RO:0003303 OMIM:617532 ; - oboInOwl:hasDbXref UMLS:C1822763 ; oboInOwl:hasExactSynonym "SLC45A1", "deleted 1n neuroblastoma 5", "solute carrier family 45, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50651 ; - skos:exactMatch HGNC_symbol:SLC45A1 ; + skos:exactMatch UMLS:C1822763, + HGNC:17939, + HGNC_symbol:SLC45A1 ; biolink:category biolink:Gene . OMIM:605764 a owl:Class ; @@ -210806,67 +218084,72 @@ OMIM:605764 a owl:Class ; PMID:30109272 ; RO:0002525 CHR:9606chr6p22.3 ; RO:0003303 OMIM:616949 ; - oboInOwl:hasDbXref UMLS:C1425071 ; oboInOwl:hasExactSynonym "TDP2", "traf- and tnf receptor-associated protein", "tyrosyl-dna phosphodiesterase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51567 ; - skos:exactMatch HGNC_symbol:TDP2 ; + skos:exactMatch UMLS:C1425071, + HGNC:17768, + HGNC_symbol:TDP2 ; biolink:category biolink:Gene . OMIM:605765 a owl:Class ; rdfs:label "DLEU1" ; IAO:0000142 PMID:11406609, PMID:9395242 ; - oboInOwl:hasDbXref UMLS:C1333221 ; oboInOwl:hasExactSynonym "DLEU1", "b-cell neoplasia-associated gene with multiple splicing", "deleted 1n lymphocytic leukemia 1", "leu1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10301 ; - skos:exactMatch HGNC_symbol:DLEU1 ; + skos:exactMatch UMLS:C1333221, + HGNC:13747, + HGNC_symbol:DLEU1 ; biolink:category biolink:Gene . OMIM:605766 a owl:Class ; rdfs:label "DLEU2" ; IAO:0000142 PMID:15188451, PMID:9395242 ; - oboInOwl:hasDbXref UMLS:C1333223 ; oboInOwl:hasExactSynonym "DLEU2", "bcmsun", "deleted 1n lymphocytic leukemia 2", "leu2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8847 ; - skos:exactMatch HGNC_symbol:DLEU2 ; + skos:exactMatch UMLS:C1333223, + HGNC:13748, + HGNC_symbol:DLEU2 ; biolink:category biolink:Gene . OMIM:605767 a owl:Class ; rdfs:label "PAG1" ; IAO:0000142 PMID:10790433, PMID:26211970 ; - oboInOwl:hasDbXref UMLS:C1538565 ; oboInOwl:hasExactSynonym "PAG1", "csk-binding protein", "phosphoprotein associated with glycosphingolipid-enriched microdomains 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55824 ; - skos:exactMatch HGNC_symbol:PAG1 ; + skos:exactMatch UMLS:C1538565, + HGNC:30043, + HGNC_symbol:PAG1 ; biolink:category biolink:Gene . OMIM:605768 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10432293, PMID:10770799 ; - oboInOwl:hasDbXref UMLS:C1424332 ; oboInOwl:hasExactSynonym "b-cell adaptor molecule, 32-kd", "dapp1", "dual adaptor of phosphotyrosine and 3-phosphoinositides 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27071 ; - skos:exactMatch HGNC_symbol:DAPP1 ; + skos:exactMatch UMLS:C1424332, + HGNC:16500, + HGNC_symbol:DAPP1 ; biolink:category biolink:Gene . OMIM:605769 a owl:Class ; @@ -210878,8 +218161,6 @@ OMIM:605769 a owl:Class ; PMID:26592194, PMID:27432991, PMID:29930104 ; - oboInOwl:hasDbXref UMLS:C1424158, - UMLS:C1853992 ; oboInOwl:hasExactSynonym "TRIM33", "ectodermin, xenopus, homolog of", "ptc7 chimeric oncogene", @@ -210889,19 +218170,23 @@ OMIM:605769 a owl:Class ; "tripartite motif-containing protein 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51592 ; - skos:exactMatch HGNC_symbol:TRIM33 ; + skos:exactMatch UMLS:C1424158, + UMLS:C1853992, + HGNC:16290, + HGNC_symbol:TRIM33 ; biolink:category biolink:Gene . OMIM:605770 a owl:Class ; rdfs:label "ILVBL" ; IAO:0000142 PMID:8954801 ; - oboInOwl:hasDbXref UMLS:C1416422 ; oboInOwl:hasExactSynonym "ILVBL", "acetolactate synthase, bacterial, homolog of", "ilvb-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10994 ; - skos:exactMatch HGNC_symbol:ILVBL ; + skos:exactMatch UMLS:C1416422, + HGNC:6041, + HGNC_symbol:ILVBL ; biolink:category biolink:Gene . OMIM:605771 a owl:Class ; @@ -210910,7 +218195,6 @@ OMIM:605771 a owl:Class ; PMID:27775717, PMID:8647836, PMID:9418891 ; - oboInOwl:hasDbXref UMLS:C1332777 ; oboInOwl:hasExactSynonym "COX7A2L", "cox7a2-like protein", "cox7ar", @@ -210922,7 +218206,9 @@ OMIM:605771 a owl:Class ; "supercomplex assembly factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9167 ; - skos:exactMatch HGNC_symbol:COX7A2L ; + skos:exactMatch UMLS:C1332777, + HGNC:2289, + HGNC_symbol:COX7A2L ; biolink:category biolink:Gene . OMIM:605772 a owl:Class ; @@ -210930,14 +218216,15 @@ OMIM:605772 a owl:Class ; IAO:0000142 PMID:10426319, PMID:10873660, PMID:9418891 ; - oboInOwl:hasDbXref UMLS:C1414231 ; oboInOwl:hasExactSynonym "EBAG9", "eb9", "estrogen receptor-binding site-associated antigen, 9", "rcas1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9166 ; - skos:exactMatch HGNC_symbol:EBAG9 ; + skos:exactMatch UMLS:C1414231, + HGNC:3123, + HGNC_symbol:EBAG9 ; biolink:category biolink:Gene . OMIM:605773 a owl:Class ; @@ -210948,25 +218235,27 @@ OMIM:605773 a owl:Class ; PMID:10934230, PMID:11006272, PMID:16670336 ; - oboInOwl:hasDbXref UMLS:C1426125 ; oboInOwl:hasExactSynonym "LTB4R2", "leukotriene b4 g protein-coupled receptor 2", "leukotriene b4 receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56413 ; - skos:exactMatch HGNC_symbol:LTB4R2 ; + skos:exactMatch UMLS:C1426125, + HGNC:19260, + HGNC_symbol:LTB4R2 ; biolink:category biolink:Gene . OMIM:605774 a owl:Class ; rdfs:label "KLHL2" ; IAO:0000142 PMID:10397770 ; - oboInOwl:hasDbXref UMLS:C1416665 ; oboInOwl:hasExactSynonym "KLHL2", "kelch-like 2", "mayven" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11275 ; - skos:exactMatch HGNC_symbol:KLHL2 ; + skos:exactMatch UMLS:C1416665, + HGNC:6353, + HGNC_symbol:KLHL2 ; biolink:category biolink:Gene . OMIM:605775 a owl:Class ; @@ -210978,12 +218267,13 @@ OMIM:605775 a owl:Class ; PMID:24821705 ; RO:0002525 CHR:9606chr5q31.2 ; RO:0003303 OMIM:614495 ; - oboInOwl:hasDbXref UMLS:C1416666 ; oboInOwl:hasExactSynonym "KLHL3", "kelch-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26249 ; - skos:exactMatch HGNC_symbol:KLHL3 ; + skos:exactMatch UMLS:C1416666, + HGNC:6354, + HGNC_symbol:KLHL3 ; biolink:category biolink:Gene . OMIM:605776 a owl:Class ; @@ -210991,14 +218281,15 @@ OMIM:605776 a owl:Class ; IAO:0000142 PMID:11470158, PMID:30580966, PMID:8390249 ; - oboInOwl:hasDbXref UMLS:C1414608 ; oboInOwl:hasExactSynonym "FGL1", "fibrinogen-like 1", "hepassocin", "hepatocyte-derived fibrinogen-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2267 ; - skos:exactMatch HGNC_symbol:FGL1 ; + skos:exactMatch UMLS:C1414608, + HGNC:3695, + HGNC_symbol:FGL1 ; biolink:category biolink:Gene . OMIM:605777 a owl:Class ; @@ -211007,39 +218298,42 @@ OMIM:605777 a owl:Class ; PMID:15764706, PMID:16025116, PMID:6801109 ; - oboInOwl:hasDbXref UMLS:C1422502 ; oboInOwl:hasExactSynonym "SMPD3", "sphingomyelin phosphodiesterase 3, neutral membrane", "sphingomyelinase, neutral, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55512 ; - skos:exactMatch HGNC_symbol:SMPD3 ; + skos:exactMatch UMLS:C1422502, + HGNC:14240, + HGNC_symbol:SMPD3 ; biolink:category biolink:Gene . OMIM:605778 a owl:Class ; rdfs:label "NIF3L1" ; IAO:0000142 PMID:11124544, PMID:11161814 ; - oboInOwl:hasDbXref UMLS:C1421971 ; oboInOwl:hasExactSynonym "NIF3L1", "als2 chromosome region gene 1", "nif3-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60491 ; - skos:exactMatch HGNC_symbol:NIF3L1 ; + skos:exactMatch UMLS:C1421971, + HGNC:13390, + HGNC_symbol:NIF3L1 ; biolink:category biolink:Gene . OMIM:605780 a owl:Class ; rdfs:label "PRDM4" ; IAO:0000142 PMID:10552934, PMID:21604305 ; - oboInOwl:hasDbXref UMLS:C1335254 ; oboInOwl:hasExactSynonym "PRDM4", "pfm1", "pr domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11108 ; - skos:exactMatch HGNC_symbol:PRDM4 ; + skos:exactMatch UMLS:C1335254, + HGNC:9348, + HGNC_symbol:PRDM4 ; biolink:category biolink:Gene . OMIM:605781 a owl:Class ; @@ -211047,14 +218341,15 @@ OMIM:605781 a owl:Class ; IAO:0000142 PMID:10894936, PMID:12577064, PMID:9116026 ; - oboInOwl:hasDbXref UMLS:C1412517 ; oboInOwl:hasExactSynonym "RHOD", "arhd", "ras homolog gene family, member d", "rho-related protein hp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29984 ; - skos:exactMatch HGNC_symbol:RHOD ; + skos:exactMatch UMLS:C1412517, + HGNC:670, + HGNC_symbol:RHOD ; biolink:category biolink:Gene . OMIM:605782 a owl:Class ; @@ -211063,61 +218358,66 @@ OMIM:605782 a owl:Class ; PMID:11325856, PMID:14622290, PMID:15205331 ; - oboInOwl:hasDbXref UMLS:C1414361 ; oboInOwl:hasExactSynonym "EIF5A2", "eukaryotic translation initiation factor 5a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56648 ; - skos:exactMatch HGNC_symbol:EIF5A2 ; + skos:exactMatch UMLS:C1414361, + HGNC:3301, + HGNC_symbol:EIF5A2 ; biolink:category biolink:Gene . OMIM:605783 a owl:Class ; rdfs:label "BCAS2" ; IAO:0000142 PMID:10403562, PMID:9731529 ; - oboInOwl:hasDbXref UMLS:C1332388 ; oboInOwl:hasExactSynonym "BCAS2", "bcas2 pre-mrna processing factor", "breast carcinoma amplified sequence 2", "dam1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10286 ; - skos:exactMatch HGNC_symbol:BCAS2 ; + skos:exactMatch UMLS:C1332388, + HGNC:975, + HGNC_symbol:BCAS2 ; biolink:category biolink:Gene . OMIM:605784 a owl:Class ; rdfs:label "TTYH1" ; IAO:0000142 PMID:10950931, PMID:15010458 ; - oboInOwl:hasDbXref UMLS:C1422010 ; oboInOwl:hasExactSynonym "TTYH1", "tweety family member 1", "tweety, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57348 ; - skos:exactMatch HGNC_symbol:TTYH1 ; + skos:exactMatch UMLS:C1422010, + HGNC:13476, + HGNC_symbol:TTYH1 ; biolink:category biolink:Gene . OMIM:605785 a owl:Class ; rdfs:label "TUBG2" ; IAO:0000142 PMID:10903841 ; - oboInOwl:hasDbXref UMLS:C1421237 ; oboInOwl:hasExactSynonym "TUBG2", "tubulin, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27175 ; - skos:exactMatch HGNC_symbol:TUBG2 ; + skos:exactMatch UMLS:C1421237, + HGNC:12419, + HGNC_symbol:TUBG2 ; biolink:category biolink:Gene . OMIM:605786 a owl:Class ; rdfs:label "RBMS3" ; IAO:0000142 PMID:10675610 ; - oboInOwl:hasDbXref UMLS:C1421986 ; oboInOwl:hasExactSynonym "RBMS3", "rna-binding motif protein, single strand-interacting, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27303 ; - skos:exactMatch HGNC_symbol:RBMS3 ; + skos:exactMatch UMLS:C1421986, + HGNC:13427, + HGNC_symbol:RBMS3 ; biolink:category biolink:Gene . OMIM:605787 a owl:Class ; @@ -211125,21 +218425,21 @@ OMIM:605787 a owl:Class ; IAO:0000142 PMID:10965114, PMID:11095640, PMID:15964851 ; - oboInOwl:hasDbXref UMLS:C1421879 ; oboInOwl:hasExactSynonym "ANKRA2", "ankra", "ankyrin repeat-containing protein, family a, member 2", "rfxank-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57763 ; - skos:exactMatch HGNC_symbol:ANKRA2 ; + skos:exactMatch UMLS:C1421879, + HGNC:13208, + HGNC_symbol:ANKRA2 ; biolink:category biolink:Gene . OMIM:605788 a owl:Class ; rdfs:label "MAPRE3" ; IAO:0000142 PMID:10644998, PMID:11161807 ; - oboInOwl:hasDbXref UMLS:C1417031 ; oboInOwl:hasExactSynonym "MAPRE3", "adenomatous polyposis coli-binding protein eb3", "apc-binding protein rp3", @@ -211147,7 +218447,9 @@ OMIM:605788 a owl:Class ; "microtubule-associated protein, rp/eb family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22924 ; - skos:exactMatch HGNC_symbol:MAPRE3 ; + skos:exactMatch UMLS:C1417031, + HGNC:6892, + HGNC_symbol:MAPRE3 ; biolink:category biolink:Gene . OMIM:605789 a owl:Class ; @@ -211161,36 +218463,39 @@ OMIM:605789 a owl:Class ; PMID:9233623 ; RO:0002525 CHR:9606chr18q12.1-q12.2 ; RO:0003303 OMIM:616734 ; - oboInOwl:hasDbXref UMLS:C1417030 ; oboInOwl:hasExactSynonym "MAPRE2", "adenomatous polyposis coli-binding protein eb2", "apc-binding protein rp1", "microtubule-associated protein, rp/eb family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10982 ; - skos:exactMatch HGNC_symbol:MAPRE2 ; + skos:exactMatch UMLS:C1417030, + HGNC:6891, + HGNC_symbol:MAPRE2 ; biolink:category biolink:Gene . OMIM:605790 a owl:Class ; rdfs:label "STK31" ; IAO:0000142 PMID:11279525 ; - oboInOwl:hasDbXref UMLS:C1420480 ; oboInOwl:hasExactSynonym "STK31", "serine/threonine kinase 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56164 ; - skos:exactMatch HGNC_symbol:STK31 ; + skos:exactMatch UMLS:C1420480, + HGNC:11407, + HGNC_symbol:STK31 ; biolink:category biolink:Gene . OMIM:605791 a owl:Class ; rdfs:label "TEX12" ; IAO:0000142 PMID:11279525 ; - oboInOwl:hasDbXref UMLS:C1420691 ; oboInOwl:hasExactSynonym "TEX12", "testis-expressed gene 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56158 ; - skos:exactMatch HGNC_symbol:TEX12 ; + skos:exactMatch UMLS:C1420691, + HGNC:11734, + HGNC_symbol:TEX12 ; biolink:category biolink:Gene . OMIM:605792 a owl:Class ; @@ -211203,23 +218508,25 @@ OMIM:605792 a owl:Class ; PMID:29790874 ; RO:0002525 CHR:9606chr17q22 ; RO:0003303 OMIM:617707 ; - oboInOwl:hasDbXref UMLS:C1420694 ; oboInOwl:hasExactSynonym "TEX14", "testis-expressed gene 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56155 ; - skos:exactMatch HGNC_symbol:TEX14 ; + skos:exactMatch UMLS:C1420694, + HGNC:11737, + HGNC_symbol:TEX14 ; biolink:category biolink:Gene . OMIM:605793 a owl:Class ; rdfs:label "RNF17" ; IAO:0000142 PMID:11279525 ; - oboInOwl:hasDbXref UMLS:C1419418 ; oboInOwl:hasExactSynonym "RNF17", "ring finger protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56163 ; - skos:exactMatch HGNC_symbol:RNF17 ; + skos:exactMatch UMLS:C1419418, + HGNC:10060, + HGNC_symbol:RNF17 ; biolink:category biolink:Gene . OMIM:605794 a owl:Class ; @@ -211227,13 +218534,14 @@ OMIM:605794 a owl:Class ; IAO:0000142 PMID:11279525, PMID:20534472, PMID:20547853 ; - oboInOwl:hasDbXref UMLS:C1417231 ; oboInOwl:hasExactSynonym "MOV10L1", "cardiac helicase activated by mef2c protein", "mov10-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54456 ; - skos:exactMatch HGNC_symbol:MOV10L1 ; + skos:exactMatch UMLS:C1417231, + HGNC:7201, + HGNC_symbol:MOV10L1 ; biolink:category biolink:Gene . OMIM:605795 a owl:Class ; @@ -211245,31 +218553,32 @@ OMIM:605795 a owl:Class ; PMID:28355598 ; RO:0002525 CHR:9606chr8p12 ; RO:0003303 OMIM:617960 ; - oboInOwl:hasDbXref UMLS:C1420695 ; oboInOwl:hasExactSynonym "TEX15", "testis-expressed gene 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56154 ; - skos:exactMatch HGNC_symbol:TEX15 ; + skos:exactMatch UMLS:C1420695, + HGNC:11738, + HGNC_symbol:TEX15 ; biolink:category biolink:Gene . OMIM:605796 a owl:Class ; rdfs:label "TDRD1" ; IAO:0000142 PMID:11279525, PMID:17038506 ; - oboInOwl:hasDbXref UMLS:C1420677 ; oboInOwl:hasExactSynonym "TDRD1", "tudor domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56165 ; - skos:exactMatch HGNC_symbol:TDRD1 ; + skos:exactMatch UMLS:C1420677, + HGNC:11712, + HGNC_symbol:TDRD1 ; biolink:category biolink:Gene . OMIM:605797 a owl:Class ; rdfs:label "ASZ1" ; IAO:0000142 PMID:11279520, PMID:12040005 ; - oboInOwl:hasDbXref UMLS:C1540210 ; oboInOwl:hasExactSynonym "ASZ1", "ankl1", "ankyrin repeat, sam, and basic leucine zipper domain-containing 1", @@ -211278,19 +218587,22 @@ OMIM:605797 a owl:Class ; "germ cell-specific protein containing ank, sam, and basic leucine zipper domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136991 ; - skos:exactMatch HGNC_symbol:ASZ1 ; + skos:exactMatch UMLS:C1540210, + HGNC:1350, + HGNC_symbol:ASZ1 ; biolink:category biolink:Gene . OMIM:605798 a owl:Class ; rdfs:label "NPDC1" ; IAO:0000142 PMID:10970871 ; - oboInOwl:hasDbXref UMLS:C1417778 ; oboInOwl:hasExactSynonym "NPDC1", "cab1, yeast, homolog of", "neural proliferation, differentiation, and control protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56654 ; - skos:exactMatch HGNC_symbol:NPDC1 ; + skos:exactMatch UMLS:C1417778, + HGNC:7899, + HGNC_symbol:NPDC1 ; biolink:category biolink:Gene . OMIM:605799 a owl:Class ; @@ -211311,14 +218623,15 @@ OMIM:605799 a owl:Class ; PMID:9851841 ; RO:0002525 CHR:9606chr14q32.32 ; RO:0003303 OMIM:618882 ; - oboInOwl:hasDbXref UMLS:C1422785, - UMLS:C4016948 ; oboInOwl:hasExactSynonym "AMN", "amnion-associated transmembrane protein", "amnionless, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81693 ; - skos:exactMatch HGNC_symbol:AMN ; + skos:exactMatch UMLS:C1422785, + UMLS:C4016948, + HGNC:14604, + HGNC_symbol:AMN ; biolink:category biolink:Gene . OMIM:605800 a owl:Class ; @@ -211326,7 +218639,6 @@ OMIM:605800 a owl:Class ; IAO:0000142 PMID:12489984, PMID:15907477, PMID:9733834 ; - oboInOwl:hasDbXref UMLS:C1424684 ; oboInOwl:hasExactSynonym "HNRNPUL1", "adenovirus e1b 55-kd protein-associated protein 5", "e1b55-associated protein 5", @@ -211334,7 +218646,9 @@ OMIM:605800 a owl:Class ; "hnrpul1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11100 ; - skos:exactMatch HGNC_symbol:HNRNPUL1 ; + skos:exactMatch UMLS:C1424684, + HGNC:17011, + HGNC_symbol:HNRNPUL1 ; biolink:category biolink:Gene . OMIM:605801 a owl:Class ; @@ -211346,7 +218660,6 @@ OMIM:605801 a owl:Class ; PMID:21822277, PMID:23821548, PMID:7673236 ; - oboInOwl:hasDbXref UMLS:C1419253 ; oboInOwl:hasExactSynonym "RALBP1", "dinitrophenyl s-glutathione atpase", "dnp-sg atpase", @@ -211355,7 +218668,9 @@ OMIM:605801 a owl:Class ; "rala-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10928 ; - skos:exactMatch HGNC_symbol:RALBP1 ; + skos:exactMatch UMLS:C1419253, + HGNC:9841, + HGNC_symbol:RALBP1 ; biolink:category biolink:Gene . OMIM:605802 a owl:Class ; @@ -211392,7 +218707,6 @@ OMIM:605802 a owl:Class ; PMID:9719364 ; RO:0002525 CHR:9606chr2q22.3 ; RO:0003303 OMIM:235730 ; - oboInOwl:hasDbXref UMLS:C1423021 ; oboInOwl:hasExactSynonym "ZEB2", "kiaa0569", "sip1", @@ -211401,7 +218715,9 @@ OMIM:605802 a owl:Class ; "zinc finger homeobox 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9839 ; - skos:exactMatch HGNC_symbol:ZEB2 ; + skos:exactMatch UMLS:C1423021, + HGNC:14881, + HGNC_symbol:ZEB2 ; biolink:category biolink:Gene . OMIM:605805 a owl:Class ; @@ -211410,10 +218726,10 @@ OMIM:605805 a owl:Class ; PMID:12045207, PMID:16685656 ; RO:0002525 CHR:9606chr17q25.3 ; - oboInOwl:hasDbXref UMLS:C1853963 ; oboInOwl:hasExactSynonym "ATOD4", "dermatitis, atopic, 4" ; rdfs:subClassOf OMIMPS:603165 ; + skos:exactMatch UMLS:C1853963 ; biolink:category biolink:Disease . OMIM:605806 a owl:Class ; @@ -211421,31 +218737,33 @@ OMIM:605806 a owl:Class ; IAO:0000142 PMID:10995570, PMID:7513047, PMID:7598801 ; - oboInOwl:hasDbXref UMLS:C1413281 ; oboInOwl:hasExactSynonym "CDH7", "cadherin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1005 ; - skos:exactMatch HGNC_symbol:CDH7 ; + skos:exactMatch UMLS:C1413281, + HGNC:1766, + HGNC_symbol:CDH7 ; biolink:category biolink:Gene . OMIM:605807 a owl:Class ; rdfs:label "CDH20" ; IAO:0000142 PMID:10995570 ; - oboInOwl:hasDbXref UMLS:C1413278 ; oboInOwl:hasExactSynonym "CDH20", "cadherin 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28316 ; - skos:exactMatch HGNC_symbol:CDH20 ; + skos:exactMatch UMLS:C1413278, + HGNC:1760, + HGNC_symbol:CDH20 ; biolink:category biolink:Gene . OMIM:605808 a owl:Class ; rdfs:label "birdshot chorioretinopathy" ; IAO:0000142 PMID:11226280 ; - oboInOwl:hasDbXref UMLS:C1853959 ; oboInOwl:hasExactSynonym "birdshot chorioretinopathy", - "bscr" . + "bscr" ; + skos:exactMatch UMLS:C1853959 . OMIM:605809 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 4a, slow-channel" ; @@ -211459,12 +218777,12 @@ OMIM:605809 a owl:Class ; PMID:7863154, PMID:8872460, PMID:9839364 ; - oboInOwl:hasDbXref UMLS:C4225413 ; oboInOwl:hasExactSynonym "CMS4A", "cms ia1, formerly", "congenital myasthenic syndrome iia ia1, formerly", "myasthenic syndrome, congenital, 4a, slow-channel" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225413 ; biolink:category biolink:Disease . OMIM:605810 a owl:Class ; @@ -211477,13 +218795,14 @@ OMIM:605810 a owl:Class ; PMID:29566152 ; RO:0002525 CHR:9606chr3q23 ; RO:0003303 OMIM:618117 ; - oboInOwl:hasDbXref UMLS:C1422713 ; oboInOwl:hasExactSynonym "MRPS22", "chromosome 3 open reading frame 5", "mitochondrial ribosomal protein s22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56945 ; - skos:exactMatch HGNC_symbol:MRPS22 ; + skos:exactMatch UMLS:C1422713, + HGNC:14508, + HGNC_symbol:MRPS22 ; biolink:category biolink:Gene . OMIM:605811 a owl:Class ; @@ -211491,27 +218810,29 @@ OMIM:605811 a owl:Class ; IAO:0000142 PMID:10228171, PMID:10567585, PMID:10848583 ; - oboInOwl:hasDbXref UMLS:C1423828 ; oboInOwl:hasExactSynonym "NXT1", "mtr2, yeast, homolog of", "ntf2-like export factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29107 ; - skos:exactMatch HGNC_symbol:NXT1 ; + skos:exactMatch UMLS:C1423828, + HGNC:15913, + HGNC_symbol:NXT1 ; biolink:category biolink:Gene . OMIM:605812 a owl:Class ; rdfs:label "DDX19B" ; IAO:0000142 PMID:10428971, PMID:17272721 ; - oboInOwl:hasDbXref UMLS:C1824903 ; oboInOwl:hasExactSynonym "DDX19B", "dbp5, yeast, homolog of", "dead-box helicase 19b", "dead/h-box 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11269 ; - skos:exactMatch HGNC_symbol:DDX19B ; + skos:exactMatch UMLS:C1824903, + HGNC:2742, + HGNC_symbol:DDX19B ; biolink:category biolink:Gene . OMIM:605813 a owl:Class ; @@ -211519,14 +218840,15 @@ OMIM:605813 a owl:Class ; IAO:0000142 PMID:3380696, PMID:7744965, PMID:9822603 ; - oboInOwl:hasDbXref UMLS:C1422162 ; oboInOwl:hasExactSynonym "NUTF2", "ntf2", "nuclear transport factor 2", "placental protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10204 ; - skos:exactMatch HGNC_symbol:NUTF2 ; + skos:exactMatch UMLS:C1422162, + HGNC:13722, + HGNC_symbol:NUTF2 ; biolink:category biolink:Gene . OMIM:605815 a owl:Class ; @@ -211538,12 +218860,13 @@ OMIM:605815 a owl:Class ; PMID:26292704 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:271930 ; - oboInOwl:hasDbXref UMLS:C1417895 ; oboInOwl:hasExactSynonym "NUP62", "nucleoporin, 62-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23636 ; - skos:exactMatch HGNC_symbol:NUP62 ; + skos:exactMatch UMLS:C1417895, + HGNC:8066, + HGNC_symbol:NUP62 ; biolink:category biolink:Gene . OMIM:605816 a owl:Class ; @@ -211556,7 +218879,6 @@ OMIM:605816 a owl:Class ; PMID:18033300, PMID:8551575, PMID:9342359 ; - oboInOwl:hasDbXref UMLS:C1414234 ; oboInOwl:hasExactSynonym "EBI3", "epstein-barr virus-induced gene 3", "il27, ebi3 subunit", @@ -211565,7 +218887,9 @@ OMIM:605816 a owl:Class ; "interleukin 35, ebi3 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10148 ; - skos:exactMatch HGNC_symbol:EBI3 ; + skos:exactMatch UMLS:C1414234, + HGNC:3129, + HGNC_symbol:EBI3 ; biolink:category biolink:Gene . OMIM:605817 a owl:Class ; @@ -211586,13 +218910,14 @@ OMIM:605817 a owl:Class ; PMID:27049944, PMID:27493188, PMID:29950720 ; - oboInOwl:hasDbXref UMLS:C1335625 ; oboInOwl:hasExactSynonym "RIPK3", "receptor-interacting protein 3", "receptor-interacting serine/threonine kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11035 ; - skos:exactMatch HGNC_symbol:RIPK3 ; + skos:exactMatch UMLS:C1335625, + HGNC:10021, + HGNC_symbol:RIPK3 ; biolink:category biolink:Gene . OMIM:605819 a owl:Class ; @@ -211602,13 +218927,14 @@ OMIM:605819 a owl:Class ; PMID:11112348, PMID:25825154, PMID:8985183 ; - oboInOwl:hasDbXref UMLS:C1418467 ; oboInOwl:hasExactSynonym "PES1", "pes", "pescadillo, zebrafish, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23481 ; - skos:exactMatch HGNC_symbol:PES1 ; + skos:exactMatch UMLS:C1418467, + HGNC:8848, + HGNC_symbol:PES1 ; biolink:category biolink:Gene . OMIM:605821 a owl:Class ; @@ -211621,14 +218947,15 @@ OMIM:605821 a owl:Class ; PMID:15550245, PMID:15931225, PMID:30295646 ; - oboInOwl:hasDbXref UMLS:C1425284 ; oboInOwl:hasExactSynonym "ERAF", "alpha-hemoglobin stabilizing protein", "erythroid differentiation-related factor", "erythroid-associated factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51327 ; - skos:exactMatch HGNC_symbol:AHSP ; + skos:exactMatch UMLS:C1425284, + HGNC:18075, + HGNC_symbol:AHSP ; biolink:category biolink:Gene . OMIM:605822 a owl:Class ; @@ -211636,22 +218963,23 @@ OMIM:605822 a owl:Class ; IAO:0000142 PMID:11260210, PMID:12719077, PMID:26027496 ; - oboInOwl:hasDbXref UMLS:C4225412 ; oboInOwl:hasExactSynonym "SOS", "spondyloocular syndrome" ; + skos:exactMatch UMLS:C4225412 ; biolink:category biolink:Disease . OMIM:605823 a owl:Class ; rdfs:label "POPDC2" ; IAO:0000142 PMID:10882522, PMID:22354168 ; - oboInOwl:hasDbXref UMLS:C1425024 ; oboInOwl:hasExactSynonym "POPDC2", "popeye domain-containing protein 2", "popeye protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64091 ; - skos:exactMatch HGNC_symbol:POPDC2 ; + skos:exactMatch UMLS:C1425024, + HGNC:17648, + HGNC_symbol:POPDC2 ; biolink:category biolink:Gene . OMIM:605824 a owl:Class ; @@ -211661,28 +218989,30 @@ OMIM:605824 a owl:Class ; PMID:31610034 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:618848 ; - oboInOwl:hasDbXref UMLS:C1425025, - UMLS:C5394268 ; oboInOwl:hasExactSynonym "POPDC3", "popeye domain-containing protein 3", "popeye protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64208 ; - skos:exactMatch HGNC_symbol:POPDC3 ; + skos:exactMatch UMLS:C1425025, + UMLS:C5394268, + HGNC:17649, + HGNC_symbol:POPDC3 ; biolink:category biolink:Gene . OMIM:605825 a owl:Class ; rdfs:label "HEBP2" ; IAO:0000142 PMID:10640688, PMID:11827465 ; - oboInOwl:hasDbXref UMLS:C1423679 ; oboInOwl:hasExactSynonym "HEBP2", "chromosome 6 open reading frame 34", "heme-binding protein 2", "soul, chicken, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23593 ; - skos:exactMatch HGNC_symbol:HEBP2 ; + skos:exactMatch UMLS:C1423679, + HGNC:15716, + HGNC_symbol:HEBP2 ; biolink:category biolink:Gene . OMIM:605826 a owl:Class ; @@ -211695,7 +219025,6 @@ OMIM:605826 a owl:Class ; PMID:17577578, PMID:18083128, PMID:21709160 ; - oboInOwl:hasDbXref UMLS:C1424798 ; oboInOwl:hasExactSynonym "HEBP1", "fprl2 ligand", "hbp", @@ -211703,15 +219032,17 @@ OMIM:605826 a owl:Class ; "heme-binding protein, 22-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50865 ; - skos:exactMatch HGNC_symbol:HEBP1 ; + skos:exactMatch UMLS:C1424798, + HGNC:17176, + HGNC_symbol:HEBP1 ; biolink:category biolink:Gene . OMIM:605827 a owl:Class ; rdfs:label "basaloid follicular hamartoma syndrome, generalized, autosomal dominant" ; IAO:0000142 PMID:10906638 ; - oboInOwl:hasDbXref UMLS:C1853919 ; oboInOwl:hasExactSynonym "GBFHS", "basaloid follicular hamartoma syndrome, generalized, autosomal dominant" ; + skos:exactMatch UMLS:C1853919 ; biolink:category biolink:Disease . OMIM:605828 a owl:Class ; @@ -211725,14 +219056,15 @@ OMIM:605828 a owl:Class ; PMID:30068544 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:226400 ; - oboInOwl:hasDbXref UMLS:C1823291 ; oboInOwl:hasExactSynonym "TMC6", "ev1 gene", "ever1", "transmembrane channel-like protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11322 ; - skos:exactMatch HGNC_symbol:TMC6 ; + skos:exactMatch UMLS:C1823291, + HGNC:18021, + HGNC_symbol:TMC6 ; biolink:category biolink:Gene . OMIM:605829 a owl:Class ; @@ -211746,26 +219078,28 @@ OMIM:605829 a owl:Class ; PMID:30068544 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:618231 ; - oboInOwl:hasDbXref UMLS:C1823292 ; oboInOwl:hasExactSynonym "TMC8", "ev gene 2", "ever2", "transmembrane channel-like protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147138 ; - skos:exactMatch HGNC_symbol:TMC8 ; + skos:exactMatch UMLS:C1823292, + HGNC:20474, + HGNC_symbol:TMC8 ; biolink:category biolink:Gene . OMIM:605830 a owl:Class ; rdfs:label "FGFRL1" ; IAO:0000142 PMID:11031111, PMID:20851884 ; - oboInOwl:hasDbXref UMLS:C1364012 ; oboInOwl:hasExactSynonym "FGFRL1", "fibroblast growth factor receptor-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53834 ; - skos:exactMatch HGNC_symbol:FGFRL1 ; + skos:exactMatch UMLS:C1364012, + HGNC:3693, + HGNC_symbol:FGFRL1 ; biolink:category biolink:Gene . OMIM:605831 a owl:Class ; @@ -211773,12 +219107,13 @@ OMIM:605831 a owl:Class ; IAO:0000142 PMID:11342227, PMID:15260994, PMID:20505669 ; - oboInOwl:hasDbXref UMLS:C1414604 ; oboInOwl:hasExactSynonym "FGF22", "fibroblast growth factor 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27006 ; - skos:exactMatch HGNC_symbol:FGF22 ; + skos:exactMatch UMLS:C1414604, + HGNC:3679, + HGNC_symbol:FGF22 ; biolink:category biolink:Gene . OMIM:605832 a owl:Class ; @@ -211789,7 +219124,6 @@ OMIM:605832 a owl:Class ; PMID:28562591, PMID:31645761, PMID:32214246 ; - oboInOwl:hasDbXref UMLS:C1825842 ; oboInOwl:hasExactSynonym "ACSS2", "acetate-coa ligase", "acetyl-coa synthetase short chain family, member 2", @@ -211797,30 +219131,34 @@ OMIM:605832 a owl:Class ; "acyl-coa synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55902 ; - skos:exactMatch HGNC_symbol:ACSS2 ; + skos:exactMatch UMLS:C1825842, + HGNC:15814, + HGNC_symbol:ACSS2 ; biolink:category biolink:Gene . OMIM:605834 a owl:Class ; rdfs:label "TMOD4" ; IAO:0000142 PMID:10662549, PMID:11716785 ; - oboInOwl:hasDbXref UMLS:C1420782 ; oboInOwl:hasExactSynonym "TMOD4", "tropomodulin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29765 ; - skos:exactMatch HGNC_symbol:TMOD4 ; + skos:exactMatch UMLS:C1420782, + HGNC:11874, + HGNC_symbol:TMOD4 ; biolink:category biolink:Gene . OMIM:605835 a owl:Class ; rdfs:label "TMEM2" ; IAO:0000142 PMID:10767548 ; - oboInOwl:hasDbXref UMLS:C1420777 ; oboInOwl:hasExactSynonym "TMEM2", "transmembrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23670 ; - skos:exactMatch HGNC_symbol:CEMIP2 ; + skos:exactMatch UMLS:C1420777, + HGNC:11869, + HGNC_symbol:CEMIP2 ; biolink:category biolink:Gene . OMIM:605836 a owl:Class ; @@ -211835,7 +219173,6 @@ OMIM:605836 a owl:Class ; PMID:23258414, PMID:9607201, PMID:9895278 ; - oboInOwl:hasDbXref UMLS:C1421356 ; oboInOwl:hasExactSynonym "UNC13B", "munc13", "unc13", @@ -211843,7 +219180,9 @@ OMIM:605836 a owl:Class ; "unc13, c. elegans, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10497 ; - skos:exactMatch HGNC_symbol:UNC13B ; + skos:exactMatch UMLS:C1421356, + HGNC:12566, + HGNC_symbol:UNC13B ; biolink:category biolink:Gene . OMIM:605837 a owl:Class ; @@ -211867,19 +219206,20 @@ OMIM:605837 a owl:Class ; PMID:9949213 ; RO:0002525 CHR:9606chr15q13.1 ; RO:0003303 OMIM:227220 ; - oboInOwl:hasDbXref UMLS:C1415512 ; oboInOwl:hasExactSynonym "HERC2", "hect domain and rcc1-like domain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8924 ; - skos:exactMatch HGNC_symbol:HERC2 ; + skos:exactMatch UMLS:C1415512, + HGNC:4868, + HGNC_symbol:HERC2 ; biolink:category biolink:Gene . OMIM:605838 a owl:Class ; rdfs:label "baby rattle pelvis dysplasia" ; IAO:0000142 PMID:11337746 ; - oboInOwl:hasDbXref UMLS:C1853911 ; - oboInOwl:hasExactSynonym "baby rattle pelvis dysplasia" . + oboInOwl:hasExactSynonym "baby rattle pelvis dysplasia" ; + skos:exactMatch UMLS:C1853911 . OMIM:605839 a owl:Class ; IAO:0100001 OMIM:150800 ; @@ -211889,61 +219229,66 @@ OMIM:605840 a owl:Class ; rdfs:label "RNF111" ; IAO:0000142 PMID:11298452, PMID:11298453 ; - oboInOwl:hasDbXref UMLS:C1424951 ; oboInOwl:hasExactSynonym "RNF111", "arkadia, mouse, homolog of", "ring finger protein 111" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54778 ; - skos:exactMatch HGNC_symbol:RNF111 ; + skos:exactMatch UMLS:C1424951, + HGNC:17384, + HGNC_symbol:RNF111 ; biolink:category biolink:Gene . OMIM:605842 a owl:Class ; rdfs:label "TBL2" ; IAO:0000142 PMID:10575226, PMID:9860302 ; - oboInOwl:hasDbXref UMLS:C1420600 ; oboInOwl:hasExactSynonym "TBL2", "transducin-beta-like 2", "wbscr13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26608 ; - skos:exactMatch HGNC_symbol:TBL2 ; + skos:exactMatch UMLS:C1420600, + HGNC:11586, + HGNC_symbol:TBL2 ; biolink:category biolink:Gene . OMIM:605843 a owl:Class ; rdfs:label "PECR" ; IAO:0000142 PMID:10811639 ; - oboInOwl:hasDbXref UMLS:C1425418 ; oboInOwl:hasExactSynonym "PECR", "peroxisomal trans-2-enoyl-coa reductase", "trans-2-enoyl-coa reductase, peroxisomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55825 ; - skos:exactMatch HGNC_symbol:PECR ; + skos:exactMatch UMLS:C1425418, + HGNC:18281, + HGNC_symbol:PECR ; biolink:category biolink:Gene . OMIM:605846 a owl:Class ; rdfs:label "BCL7B" ; IAO:0000142 PMID:9860302, PMID:9931421 ; - oboInOwl:hasDbXref UMLS:C1412767 ; oboInOwl:hasExactSynonym "BCL7B", "b-cell cll/lymphoma 7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9275 ; - skos:exactMatch HGNC_symbol:BCL7B ; + skos:exactMatch UMLS:C1412767, + HGNC:1005, + HGNC_symbol:BCL7B ; biolink:category biolink:Gene . OMIM:605847 a owl:Class ; rdfs:label "BCL7C" ; IAO:0000142 PMID:9931421 ; - oboInOwl:hasDbXref UMLS:C1412768 ; oboInOwl:hasExactSynonym "BCL7C", "b-cell cll/lymphoma 7c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9274 ; - skos:exactMatch HGNC_symbol:BCL7C ; + skos:exactMatch UMLS:C1412768, + HGNC:1006, + HGNC_symbol:BCL7C ; biolink:category biolink:Gene . OMIM:605848 a owl:Class ; @@ -211957,12 +219302,13 @@ OMIM:605848 a owl:Class ; PMID:27494380 ; RO:0002525 CHR:9606chr19p13.12 ; RO:0003303 OMIM:617320 ; - oboInOwl:hasDbXref UMLS:C1413131 ; oboInOwl:hasExactSynonym "CASP14", "caspase 14, apoptosis-related cysteine protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23581 ; - skos:exactMatch HGNC_symbol:CASP14 ; + skos:exactMatch UMLS:C1413131, + HGNC:1502, + HGNC_symbol:CASP14 ; biolink:category biolink:Gene . OMIM:605849 a owl:Class ; @@ -211972,12 +219318,13 @@ OMIM:605849 a owl:Class ; PMID:11231903 ; RO:0002525 CHR:9606chr5q14.1 ; RO:0003303 OMIM:605850 ; - oboInOwl:hasDbXref UMLS:C1539294 ; oboInOwl:hasExactSynonym "DMGDH", "dimethylglycine dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29958 ; - skos:exactMatch HGNC_symbol:DMGDH ; + skos:exactMatch UMLS:C1539294, + HGNC:24475, + HGNC_symbol:DMGDH ; biolink:category biolink:Gene . OMIM:605851 a owl:Class ; @@ -211988,13 +219335,14 @@ OMIM:605851 a owl:Class ; PMID:23686339, PMID:29342140, PMID:9614111 ; - oboInOwl:hasDbXref UMLS:C1415845 ; oboInOwl:hasExactSynonym "ICMT", "isoprenylcysteine carboxylmethyltransferase", "prenylcysteine carboxylmethyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23463 ; - skos:exactMatch HGNC_symbol:ICMT ; + skos:exactMatch UMLS:C1415845, + HGNC:5350, + HGNC_symbol:ICMT ; biolink:category biolink:Gene . OMIM:605852 a owl:Class ; @@ -212003,13 +219351,14 @@ OMIM:605852 a owl:Class ; PMID:11290329, PMID:12837247, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1424735 ; oboInOwl:hasExactSynonym "CLASP1", "clip-associated protein 1", "cytoplasmic linker-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23332 ; - skos:exactMatch HGNC_symbol:CLASP1 ; + skos:exactMatch UMLS:C1424735, + HGNC:17088, + HGNC_symbol:CLASP1 ; biolink:category biolink:Gene . OMIM:605853 a owl:Class ; @@ -212017,13 +219366,14 @@ OMIM:605853 a owl:Class ; IAO:0000142 PMID:11290329, PMID:22992739, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1424727 ; oboInOwl:hasExactSynonym "CLASP2", "clip-associated protein 2", "cytoplasmic linker-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23122 ; - skos:exactMatch HGNC_symbol:CLASP2 ; + skos:exactMatch UMLS:C1424727, + HGNC:17078, + HGNC_symbol:CLASP2 ; biolink:category biolink:Gene . OMIM:605854 a owl:Class ; @@ -212039,13 +219389,14 @@ OMIM:605854 a owl:Class ; PMID:21127253, PMID:21383694, PMID:21670227 ; - oboInOwl:hasDbXref UMLS:C1425143 ; oboInOwl:hasExactSynonym "BBC3", "bcl2-binding component 3", "p53-upregulated modulator of apoptosis" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27113 ; - skos:exactMatch HGNC_symbol:BBC3 ; + skos:exactMatch UMLS:C1425143, + HGNC:17868, + HGNC_symbol:BBC3 ; biolink:category biolink:Gene . OMIM:605855 a owl:Class ; @@ -212060,7 +219411,6 @@ OMIM:605855 a owl:Class ; PMID:18726118, PMID:9195990, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1422052 ; oboInOwl:hasExactSynonym "ATP10A", "atpase, class v, iia 10a", "atpase, class v, iia 10c", @@ -212068,15 +219418,17 @@ OMIM:605855 a owl:Class ; "atpvc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57194 ; - skos:exactMatch HGNC_symbol:ATP10A ; + skos:exactMatch UMLS:C1422052, + HGNC:13542, + HGNC_symbol:ATP10A ; biolink:category biolink:Gene . OMIM:605856 a owl:Class ; rdfs:label "short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting" ; IAO:0000142 PMID:10564877, PMID:15316972 ; - oboInOwl:hasDbXref UMLS:C1970039 ; oboInOwl:hasExactSynonym "short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting" ; + skos:exactMatch UMLS:C1970039 ; biolink:category biolink:Disease . OMIM:605857 a owl:Class ; @@ -212087,7 +219439,6 @@ OMIM:605857 a owl:Class ; PMID:16950130, PMID:2108320, PMID:9447983 ; - oboInOwl:hasDbXref UMLS:C1425056 ; oboInOwl:hasExactSynonym "RHOQ", "arhq", "ras homolog gene family, member q", @@ -212095,27 +219446,29 @@ OMIM:605857 a owl:Class ; "tc10-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23433 ; - skos:exactMatch HGNC_symbol:RHOQ ; + skos:exactMatch UMLS:C1425056, + HGNC:17736, + HGNC_symbol:RHOQ ; biolink:category biolink:Gene . OMIM:605858 a owl:Class ; rdfs:label "SCRT1" ; IAO:0000142 PMID:11274425 ; - oboInOwl:hasDbXref UMLS:C1423854 ; oboInOwl:hasExactSynonym "SCRT1", "scratch family transcriptional repressor 1", "scratch, mouse, homolog of", "scrt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83482 ; - skos:exactMatch HGNC_symbol:SCRT1 ; + skos:exactMatch UMLS:C1423854, + HGNC:15950, + HGNC_symbol:SCRT1 ; biolink:category biolink:Gene . OMIM:605859 a owl:Class ; rdfs:label "ZBTB32" ; IAO:0000142 PMID:10544010, PMID:10572087 ; - oboInOwl:hasDbXref UMLS:C1823904 ; oboInOwl:hasExactSynonym "ZBTB32", "fanconi anemia zinc finger protein", "repressor of gata", @@ -212123,7 +219476,9 @@ OMIM:605859 a owl:Class ; "zinc finger- and btb domain-containing protein 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27033 ; - skos:exactMatch HGNC_symbol:ZBTB32 ; + skos:exactMatch UMLS:C1823904, + HGNC:16763, + HGNC_symbol:ZBTB32 ; biolink:category biolink:Gene . OMIM:605860 a owl:Class ; @@ -212131,14 +219486,15 @@ OMIM:605860 a owl:Class ; IAO:0000142 PMID:10756093, PMID:11080588, PMID:16516408 ; - oboInOwl:hasDbXref UMLS:C1414162 ; oboInOwl:hasExactSynonym "RCAN3", "down syndrome critical region gene 1-like 2", "myocyte-enriched calcineurin-interacting protein 3", "rcan family member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11123 ; - skos:exactMatch HGNC_symbol:RCAN3 ; + skos:exactMatch UMLS:C1414162, + HGNC:3042, + HGNC_symbol:RCAN3 ; biolink:category biolink:Gene . OMIM:605861 a owl:Class ; @@ -212146,7 +219502,6 @@ OMIM:605861 a owl:Class ; IAO:0000142 PMID:10072769, PMID:12826659, PMID:7590265 ; - oboInOwl:hasDbXref UMLS:C1422040 ; oboInOwl:hasExactSynonym "CNPY2", "canopy 2, zebrafish, homolog of", "canopy fgf signaling regulator 2", @@ -212154,7 +219509,9 @@ OMIM:605861 a owl:Class ; "transmembrane protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10330 ; - skos:exactMatch HGNC_symbol:CNPY2 ; + skos:exactMatch UMLS:C1422040, + HGNC:13529, + HGNC_symbol:CNPY2 ; biolink:category biolink:Gene . OMIM:605862 a owl:Class ; @@ -212165,13 +219522,14 @@ OMIM:605862 a owl:Class ; PMID:7590265 ; RO:0002525 CHR:9606chr12q14.2 ; RO:0003303 OMIM:615041 ; - oboInOwl:hasDbXref UMLS:C1422041 ; oboInOwl:hasExactSynonym "RXYLT1", "ribitol xylosyltransferase 1", "transmembrane protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10329 ; - skos:exactMatch HGNC_symbol:RXYLT1 ; + skos:exactMatch UMLS:C1422041, + HGNC:13530, + HGNC_symbol:RXYLT1 ; biolink:category biolink:Gene . OMIM:605863 a owl:Class ; @@ -212179,24 +219537,26 @@ OMIM:605863 a owl:Class ; IAO:0000142 PMID:10072769, PMID:11042166, PMID:7590265 ; - oboInOwl:hasDbXref UMLS:C1422039 ; oboInOwl:hasExactSynonym "B3GNT3", "beta-1,3-n-acetylglucosaminyltransferase 3", "transmembrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10331 ; - skos:exactMatch HGNC_symbol:B3GNT3 ; + skos:exactMatch UMLS:C1422039, + HGNC:13528, + HGNC_symbol:B3GNT3 ; biolink:category biolink:Gene . OMIM:605864 a owl:Class ; rdfs:label "B3GNT4" ; IAO:0000142 PMID:11042166 ; - oboInOwl:hasDbXref UMLS:C1423655 ; oboInOwl:hasExactSynonym "B3GNT4", "beta-1,3-n-acetylglucosaminyltransferase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79369 ; - skos:exactMatch HGNC_symbol:B3GNT4 ; + skos:exactMatch UMLS:C1423655, + HGNC:15683, + HGNC_symbol:B3GNT4 ; biolink:category biolink:Gene . OMIM:605865 a owl:Class ; @@ -212218,37 +219578,40 @@ OMIM:605865 a owl:Class ; PMID:24214976, PMID:28522608, PMID:4847746 ; - oboInOwl:hasDbXref UMLS:C1423638 ; oboInOwl:hasExactSynonym "TAS1R3", "t1r3", "taste receptor iia 1, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83756 ; - skos:exactMatch HGNC_symbol:TAS1R3 ; + skos:exactMatch UMLS:C1423638, + HGNC:15661, + HGNC_symbol:TAS1R3 ; biolink:category biolink:Gene . OMIM:605866 a owl:Class ; rdfs:label "ATP8B3" ; IAO:0000142 PMID:11015572 ; - oboInOwl:hasDbXref UMLS:C1422045 ; oboInOwl:hasExactSynonym "ATP8B3", "atpase, class i, iia 8b, member 3", "atpik" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148229 ; - skos:exactMatch HGNC_symbol:ATP8B3 ; + skos:exactMatch UMLS:C1422045, + HGNC:13535, + HGNC_symbol:ATP8B3 ; biolink:category biolink:Gene . OMIM:605867 a owl:Class ; rdfs:label "ATP8B2" ; IAO:0000142 PMID:10574461 ; - oboInOwl:hasDbXref UMLS:C1422044 ; oboInOwl:hasExactSynonym "ATP8B2", "atpase, class i, iia 8b, member 2", "atpid" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57198 ; - skos:exactMatch HGNC_symbol:ATP8B2 ; + skos:exactMatch UMLS:C1422044, + HGNC:13534, + HGNC_symbol:ATP8B2 ; biolink:category biolink:Gene . OMIM:605868 a owl:Class ; @@ -212258,7 +219621,6 @@ OMIM:605868 a owl:Class ; PMID:15533723 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:619810 ; - oboInOwl:hasDbXref UMLS:C1422060 ; oboInOwl:hasExactSynonym "ATP11A", "atpase phospholipid transporting 11a", "atpase, class vi, iia 11a", @@ -212266,7 +219628,9 @@ OMIM:605868 a owl:Class ; "atpis" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23250 ; - skos:exactMatch HGNC_symbol:ATP11A ; + skos:exactMatch UMLS:C1422060, + HGNC:13552, + HGNC_symbol:ATP11A ; biolink:category biolink:Gene . OMIM:605869 a owl:Class ; @@ -212275,13 +219639,14 @@ OMIM:605869 a owl:Class ; PMID:11015572, PMID:11058586, PMID:15533723 ; - oboInOwl:hasDbXref UMLS:C1422061 ; oboInOwl:hasExactSynonym "ATP11B", "atpase, class vi, iia 11b", "atpir" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23200 ; - skos:exactMatch HGNC_symbol:ATP11B ; + skos:exactMatch UMLS:C1422061, + HGNC:13553, + HGNC_symbol:ATP11B ; biolink:category biolink:Gene . OMIM:605870 a owl:Class ; @@ -212293,13 +219658,14 @@ OMIM:605870 a owl:Class ; PMID:22892528 ; RO:0002525 CHR:9606chr13q12.13 ; RO:0003303 OMIM:615268 ; - oboInOwl:hasDbXref UMLS:C1366628 ; oboInOwl:hasExactSynonym "ATP8A2", "atpase, class i, iia 8a, member 2", "atpib" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51761 ; - skos:exactMatch HGNC_symbol:ATP8A2 ; + skos:exactMatch UMLS:C1366628, + HGNC:13533, + HGNC_symbol:ATP8A2 ; biolink:category biolink:Gene . OMIM:605871 a owl:Class ; @@ -212322,7 +219688,6 @@ OMIM:605872 a owl:Class ; PMID:17534355, PMID:18697825, PMID:20835248 ; - oboInOwl:hasDbXref UMLS:C1539099 ; oboInOwl:hasExactSynonym "CLEC4M", "c-type lectin domain family 4, member m", "cd209 antigen-like", @@ -212330,7 +219695,9 @@ OMIM:605872 a owl:Class ; "liver/lymph node-specific icam3-grabbing nonintegrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10332 ; - skos:exactMatch HGNC_symbol:CLEC4M ; + skos:exactMatch UMLS:C1539099, + HGNC:13523, + HGNC_symbol:CLEC4M ; biolink:category biolink:Gene . OMIM:605873 a owl:Class ; @@ -212338,13 +219705,14 @@ OMIM:605873 a owl:Class ; IAO:0000142 PMID:10747911, PMID:10880510, PMID:25766236 ; - oboInOwl:hasDbXref UMLS:C1416592 ; oboInOwl:hasExactSynonym "KCNK10", "potassium channel, subfamily k, member 10", "twik-related k+ channel 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54207 ; - skos:exactMatch HGNC_symbol:KCNK10 ; + skos:exactMatch UMLS:C1416592, + HGNC:6273, + HGNC_symbol:KCNK10 ; biolink:category biolink:Gene . OMIM:605874 a owl:Class ; @@ -212362,26 +219730,28 @@ OMIM:605874 a owl:Class ; PMID:30690205 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:612292 ; - oboInOwl:hasDbXref UMLS:C1416601, - UMLS:C2676770 ; oboInOwl:hasExactSynonym "KCNK9", "potassium channel, subfamily k, member 9", "twik-related acid-sensitive k+ channel 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51305 ; - skos:exactMatch HGNC_symbol:KCNK9 ; + skos:exactMatch UMLS:C1416601, + UMLS:C2676770, + HGNC:6283, + HGNC_symbol:KCNK9 ; biolink:category biolink:Gene . OMIM:605876 a owl:Class ; rdfs:label "FCRL4" ; IAO:0000142 PMID:11290337 ; - oboInOwl:hasDbXref UMLS:C1539514 ; oboInOwl:hasExactSynonym "FCRL4", "fc receptor-like protein 4", "immunoglobulin superfamily receptor translocation-associated gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83417 ; - skos:exactMatch HGNC_symbol:FCRL4 ; + skos:exactMatch UMLS:C1539514, + HGNC:18507, + HGNC_symbol:FCRL4 ; biolink:category biolink:Gene . OMIM:605877 a owl:Class ; @@ -212389,14 +219759,15 @@ OMIM:605877 a owl:Class ; IAO:0000142 PMID:11290337, PMID:11453668, PMID:20519648 ; - oboInOwl:hasDbXref UMLS:C1539515 ; oboInOwl:hasExactSynonym "FCRL5", "bxmas1", "fc receptor-like protein 5", "immunoglobulin superfamily receptor translocation-associated gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83416 ; - skos:exactMatch HGNC_symbol:FCRL5 ; + skos:exactMatch UMLS:C1539515, + HGNC:18508, + HGNC_symbol:FCRL5 ; biolink:category biolink:Gene . OMIM:605878 a owl:Class ; @@ -212411,7 +219782,6 @@ OMIM:605878 a owl:Class ; PMID:9973611 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:619769 ; - oboInOwl:hasDbXref UMLS:C1538143 ; oboInOwl:hasExactSynonym "ZBTB7A", "hiv-1 inducer of short transcripts-binding factor 1", "hiv-1 ist-binding factor 1", @@ -212421,7 +219791,9 @@ OMIM:605878 a owl:Class ; "zinc finger- and btb domain-containing protein 7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51341 ; - skos:exactMatch HGNC_symbol:ZBTB7A ; + skos:exactMatch UMLS:C1538143, + HGNC:18078, + HGNC_symbol:ZBTB7A ; biolink:category biolink:Gene . OMIM:605879 a owl:Class ; @@ -212432,13 +219804,14 @@ OMIM:605879 a owl:Class ; PMID:18604572 ; RO:0002525 CHR:9606chr5q22.3 ; RO:0003303 OMIM:619725 ; - oboInOwl:hasDbXref UMLS:C1416609 ; oboInOwl:hasExactSynonym "KCNN2", "potassium channel, calcium-activated, intermediate/small conductance, subfamily n, member 2", "sk2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3781 ; - skos:exactMatch HGNC_symbol:KCNN2 ; + skos:exactMatch UMLS:C1416609, + HGNC:6291, + HGNC_symbol:KCNN2 ; biolink:category biolink:Gene . OMIM:605880 a owl:Class ; @@ -212460,9 +219833,6 @@ OMIM:605880 a owl:Class ; PMID:8055130 ; RO:0002525 CHR:9606chr10q22.2 ; RO:0003303 OMIM:603736 ; - oboInOwl:hasDbXref UMLS:C1425003, - UMLS:C1853566, - UMLS:C1863557 ; oboInOwl:hasExactSynonym "KAT6B", "histone acetyltransferase myst4", "lysine acetyltransferase 6b", @@ -212470,7 +219840,11 @@ OMIM:605880 a owl:Class ; "morf/cbf fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23522 ; - skos:exactMatch HGNC_symbol:KAT6B ; + skos:exactMatch UMLS:C1425003, + UMLS:C1853566, + UMLS:C1863557, + HGNC:17582, + HGNC_symbol:KAT6B ; biolink:category biolink:Gene . OMIM:605881 a owl:Class ; @@ -212486,13 +219860,14 @@ OMIM:605881 a owl:Class ; PMID:24403049 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:266265 ; - oboInOwl:hasDbXref UMLS:C1426768 ; oboInOwl:hasExactSynonym "SLC35C1", "gdp-fucose transporter 1", "solute carrier family 35, member c1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55343 ; - skos:exactMatch HGNC_symbol:SLC35C1 ; + skos:exactMatch UMLS:C1426768, + HGNC:20197, + HGNC_symbol:SLC35C1 ; biolink:category biolink:Gene . OMIM:605882 a owl:Class ; @@ -212512,7 +219887,6 @@ OMIM:605882 a owl:Class ; PMID:9126728 ; RO:0002525 CHR:9606chr17q23.2 ; RO:0003303 OMIM:114480 ; - oboInOwl:hasDbXref UMLS:C1426958 ; oboInOwl:hasExactSynonym "BRIP1", "brca1-associated c-terminal helicase 1", "brca1-interacting protein 1", @@ -212521,20 +219895,23 @@ OMIM:605882 a owl:Class ; "fancj gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83990 ; - skos:exactMatch HGNC_symbol:BRIP1 ; + skos:exactMatch UMLS:C1426958, + HGNC:20473, + HGNC_symbol:BRIP1 ; biolink:category biolink:Gene . OMIM:605883 a owl:Class ; rdfs:label "LAMP3" ; IAO:0000142 PMID:9721848, PMID:9768752 ; - oboInOwl:hasDbXref UMLS:C1366486 ; oboInOwl:hasExactSynonym "LAMP3", "lysosome-associated membrane glycoprotein, dendritic cell-specific", "lysosome-associated membrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27074 ; - skos:exactMatch HGNC_symbol:LAMP3 ; + skos:exactMatch UMLS:C1366486, + HGNC:14582, + HGNC_symbol:LAMP3 ; biolink:category biolink:Gene . OMIM:605884 a owl:Class ; @@ -212543,12 +219920,13 @@ OMIM:605884 a owl:Class ; PMID:15937072 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:619515 ; - oboInOwl:hasDbXref UMLS:C1414093 ; oboInOwl:hasExactSynonym "DNAH10", "dynein, axonemal, heavy chain 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196385 ; - skos:exactMatch HGNC_symbol:DNAH10 ; + skos:exactMatch UMLS:C1414093, + HGNC:2941, + HGNC_symbol:DNAH10 ; biolink:category biolink:Gene . OMIM:605885 a owl:Class ; @@ -212560,24 +219938,26 @@ OMIM:605885 a owl:Class ; PMID:20877282, PMID:20881961, PMID:21270798 ; - oboInOwl:hasDbXref UMLS:C1419956 ; oboInOwl:hasExactSynonym "SEMA6A", "semaphorin 6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57556 ; - skos:exactMatch HGNC_symbol:SEMA6A ; + skos:exactMatch UMLS:C1419956, + HGNC:10738, + HGNC_symbol:SEMA6A ; biolink:category biolink:Gene . OMIM:605886 a owl:Class ; rdfs:label "CR1L" ; IAO:0000142 PMID:2295627 ; - oboInOwl:hasDbXref UMLS:C1413695 ; oboInOwl:hasExactSynonym "CR1L", "complement component 3b/4b receptor-like", "complement component receptor 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1379 ; - skos:exactMatch HGNC_symbol:CR1L ; + skos:exactMatch UMLS:C1413695, + HGNC:2335, + HGNC_symbol:CR1L ; biolink:category biolink:Gene . OMIM:605887 a owl:Class ; @@ -212592,12 +219972,13 @@ OMIM:605888 a owl:Class ; PMID:15020713, PMID:9253601, PMID:9397678 ; - oboInOwl:hasDbXref UMLS:C1414318 ; oboInOwl:hasExactSynonym "EHD1", "eh domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10938 ; - skos:exactMatch HGNC_symbol:EHD1 ; + skos:exactMatch UMLS:C1414318, + HGNC:3242, + HGNC_symbol:EHD1 ; biolink:category biolink:Gene . OMIM:605889 a owl:Class ; @@ -212606,13 +219987,14 @@ OMIM:605889 a owl:Class ; PMID:11329061, PMID:8828038, PMID:9334352 ; - oboInOwl:hasDbXref UMLS:C1427121 ; oboInOwl:hasExactSynonym "PDLIM3", "actinin-associated 51m protein", "pdz and 51m domain protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27295 ; - skos:exactMatch HGNC_symbol:PDLIM3 ; + skos:exactMatch UMLS:C1427121, + HGNC:20767, + HGNC_symbol:PDLIM3 ; biolink:category biolink:Gene . OMIM:605890 a owl:Class ; @@ -212620,46 +220002,50 @@ OMIM:605890 a owl:Class ; IAO:0000142 PMID:10673336, PMID:14676205, PMID:17914359 ; - oboInOwl:hasDbXref UMLS:C1414319 ; oboInOwl:hasExactSynonym "EHD2", "eh domain-containing 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30846 ; - skos:exactMatch HGNC_symbol:EHD2 ; + skos:exactMatch UMLS:C1414319, + HGNC:3243, + HGNC_symbol:EHD2 ; biolink:category biolink:Gene . OMIM:605891 a owl:Class ; rdfs:label "EHD3" ; IAO:0000142 PMID:10673336 ; - oboInOwl:hasDbXref UMLS:C1414320 ; oboInOwl:hasExactSynonym "EHD3", "eh domain-containing 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30845 ; - skos:exactMatch HGNC_symbol:EHD3 ; + skos:exactMatch UMLS:C1414320, + HGNC:3244, + HGNC_symbol:EHD3 ; biolink:category biolink:Gene . OMIM:605892 a owl:Class ; rdfs:label "EHD4" ; IAO:0000142 PMID:10673336 ; - oboInOwl:hasDbXref UMLS:C1414321 ; oboInOwl:hasExactSynonym "EHD4", "eh domain-containing 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30844 ; - skos:exactMatch HGNC_symbol:EHD4 ; + skos:exactMatch UMLS:C1414321, + HGNC:3245, + HGNC_symbol:EHD4 ; biolink:category biolink:Gene . OMIM:605893 a owl:Class ; rdfs:label "CDIPT" ; IAO:0000142 PMID:9407135 ; - oboInOwl:hasDbXref UMLS:C1413284 ; oboInOwl:hasExactSynonym "CDIPT", "cdp-diacylglycerol-inositol 3-phosphatidyltransferase", "phosphatidylinositol synthase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10423 ; - skos:exactMatch HGNC_symbol:CDIPT ; + skos:exactMatch UMLS:C1413284, + HGNC:1769, + HGNC_symbol:CDIPT ; biolink:category biolink:Gene . OMIM:605894 a owl:Class ; @@ -212667,7 +220053,6 @@ OMIM:605894 a owl:Class ; IAO:0000142 PMID:10828624, PMID:11073989, PMID:11073990 ; - oboInOwl:hasDbXref UMLS:C1825039 ; oboInOwl:hasExactSynonym "EID1", "chromosome 15 open reading frame 3", "crebbp/ep300 inhibitory protein 1", @@ -212675,7 +220060,9 @@ OMIM:605894 a owl:Class ; "ep300-interacting inhibitor of differentiation 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23741 ; - skos:exactMatch HGNC_symbol:EID1 ; + skos:exactMatch UMLS:C1825039, + HGNC:1191, + HGNC_symbol:EID1 ; biolink:category biolink:Gene . OMIM:605895 a owl:Class ; @@ -212684,7 +220071,6 @@ OMIM:605895 a owl:Class ; PMID:22751931, PMID:9582349, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1539346 ; oboInOwl:hasExactSynonym "EIF4E2", "eif4e family, member 2", "eif4e homologous protein", @@ -212692,7 +220078,9 @@ OMIM:605895 a owl:Class ; "eukaryotic translation initiation factor 4e family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9470 ; - skos:exactMatch HGNC_symbol:EIF4E2 ; + skos:exactMatch UMLS:C1539346, + HGNC:3293, + HGNC_symbol:EIF4E2 ; biolink:category biolink:Gene . OMIM:605896 a owl:Class ; @@ -212705,37 +220093,40 @@ OMIM:605896 a owl:Class ; PMID:9931490 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:615065 ; - oboInOwl:hasDbXref UMLS:C1414245 ; oboInOwl:hasExactSynonym "ECEL1", "endothelin-converting enzyme-like 1", "xce" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9427 ; - skos:exactMatch HGNC_symbol:ECEL1 ; + skos:exactMatch UMLS:C1414245, + HGNC:3147, + HGNC_symbol:ECEL1 ; biolink:category biolink:Gene . OMIM:605897 a owl:Class ; rdfs:label "UGGT1" ; IAO:0000142 PMID:10694380 ; - oboInOwl:hasDbXref UMLS:C1423640 ; oboInOwl:hasExactSynonym "UGGT1", "hugt1", "udp-glucose:glycoprotein glucosyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56886 ; - skos:exactMatch HGNC_symbol:UGGT1 ; + skos:exactMatch UMLS:C1423640, + HGNC:15663, + HGNC_symbol:UGGT1 ; biolink:category biolink:Gene . OMIM:605898 a owl:Class ; rdfs:label "UGGT2" ; IAO:0000142 PMID:10694380 ; - oboInOwl:hasDbXref UMLS:C1423641 ; oboInOwl:hasExactSynonym "UGGT2", "hugt2", "udp-glucose:glycoprotein glucosyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55757 ; - skos:exactMatch HGNC_symbol:UGGT2 ; + skos:exactMatch UMLS:C1423641, + HGNC:15664, + HGNC_symbol:UGGT2 ; biolink:category biolink:Gene . OMIM:605900 a owl:Class ; @@ -212744,7 +220135,6 @@ OMIM:605900 a owl:Class ; PMID:10753915, PMID:10861853, PMID:11973348 ; - oboInOwl:hasDbXref UMLS:C1413488 ; oboInOwl:hasExactSynonym "PDLIM1", "c-terminal 51m domain protein 1", "clp36, rat, homolog of", @@ -212752,20 +220142,23 @@ OMIM:605900 a owl:Class ; "pdz and 51m domain protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9124 ; - skos:exactMatch HGNC_symbol:PDLIM1 ; + skos:exactMatch UMLS:C1413488, + HGNC:2067, + HGNC_symbol:PDLIM1 ; biolink:category biolink:Gene . OMIM:605901 a owl:Class ; rdfs:label "UCN3" ; IAO:0000142 PMID:11329063, PMID:11416224 ; - oboInOwl:hasDbXref UMLS:C1425074 ; oboInOwl:hasExactSynonym "UCN3", "stresscopin", "urocortin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114131 ; - skos:exactMatch HGNC_symbol:UCN3 ; + skos:exactMatch UMLS:C1425074, + HGNC:17781, + HGNC_symbol:UCN3 ; biolink:category biolink:Gene . OMIM:605902 a owl:Class ; @@ -212774,7 +220167,6 @@ OMIM:605902 a owl:Class ; PMID:11329063, PMID:17050686, PMID:18308934 ; - oboInOwl:hasDbXref UMLS:C1540159 ; oboInOwl:hasExactSynonym "UCN2", "srp", "stresscopin-related peptide", @@ -212782,7 +220174,9 @@ OMIM:605902 a owl:Class ; "urocortin-related peptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90226 ; - skos:exactMatch HGNC_symbol:UCN2 ; + skos:exactMatch UMLS:C1540159, + HGNC:18414, + HGNC_symbol:UCN2 ; biolink:category biolink:Gene . OMIM:605903 a owl:Class ; @@ -212794,14 +220188,15 @@ OMIM:605903 a owl:Class ; PMID:7929196, PMID:8940095, PMID:9528800 ; - oboInOwl:hasDbXref UMLS:C1427812 ; oboInOwl:hasExactSynonym "PDLIM7", "lim domain protein enigma", "lim mineralization protein 1", "pdz and 51m domain protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9260 ; - skos:exactMatch HGNC_symbol:PDLIM7 ; + skos:exactMatch UMLS:C1427812, + HGNC:22958, + HGNC_symbol:PDLIM7 ; biolink:category biolink:Gene . OMIM:605904 a owl:Class ; @@ -212812,14 +220207,15 @@ OMIM:605904 a owl:Class ; PMID:15555569, PMID:20538684, PMID:8940095 ; - oboInOwl:hasDbXref UMLS:C1538613 ; oboInOwl:hasExactSynonym "PDLIM5", "enigma homolog", "enigma-like 51m domain protein", "pdz and 51m domain protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10611 ; - skos:exactMatch HGNC_symbol:PDLIM5 ; + skos:exactMatch UMLS:C1538613, + HGNC:17468, + HGNC_symbol:PDLIM5 ; biolink:category biolink:Gene . OMIM:605905 a owl:Class ; @@ -212828,14 +220224,15 @@ OMIM:605905 a owl:Class ; PMID:15988528, PMID:21940857, PMID:25349211 ; - oboInOwl:hasDbXref UMLS:C1824894 ; oboInOwl:hasExactSynonym "DCUN1D1", "dcn1 domain-containing protein 1", "rp42 homolog", "squamous cell carcinoma-related oncogene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54165 ; - skos:exactMatch HGNC_symbol:DCUN1D1 ; + skos:exactMatch UMLS:C1824894, + HGNC:18184, + HGNC_symbol:DCUN1D1 ; biolink:category biolink:Gene . OMIM:605906 a owl:Class ; @@ -212857,7 +220254,6 @@ OMIM:605906 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr10q23.2 ; RO:0003303 OMIM:609452 ; - oboInOwl:hasDbXref UMLS:C1423674 ; oboInOwl:hasExactSynonym "LDB3", "cypher, mouse, homolog of", "kiaa0613", @@ -212865,7 +220261,9 @@ OMIM:605906 a owl:Class ; "z-band alternatively spliced pdz motif-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11155 ; - skos:exactMatch HGNC_symbol:LDB3 ; + skos:exactMatch UMLS:C1423674, + HGNC:15710, + HGNC_symbol:LDB3 ; biolink:category biolink:Gene . OMIM:605907 a owl:Class ; @@ -212878,8 +220276,6 @@ OMIM:605907 a owl:Class ; PMID:27325525 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:608540 ; - oboInOwl:hasDbXref UMLS:C1425428, - UMLS:C2931005 ; oboInOwl:hasExactSynonym "ALG1", "alg1 asparagine-linked glycosylation 1 homolog", "alg1 chitobiosyldiphosphodolichol beta-mannosyltransferase", @@ -212889,7 +220285,10 @@ OMIM:605907 a owl:Class ; "hmt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56052 ; - skos:exactMatch HGNC_symbol:ALG1 ; + skos:exactMatch UMLS:C1425428, + UMLS:C2931005, + HGNC:18294, + HGNC_symbol:ALG1 ; biolink:category biolink:Gene . OMIM:605908 a owl:Class ; @@ -212913,13 +220312,14 @@ OMIM:605908 a owl:Class ; PMID:7584026 ; RO:0002525 CHR:9606chr22q13.33 ; RO:0003303 OMIM:604004 ; - oboInOwl:hasDbXref UMLS:C1424729 ; oboInOwl:hasExactSynonym "MLC1", "kiaa0027", "modulator of vrac current 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23209 ; - skos:exactMatch HGNC_symbol:MLC1 ; + skos:exactMatch UMLS:C1424729, + HGNC:17082, + HGNC_symbol:MLC1 ; biolink:category biolink:Gene . OMIM:605910 a owl:Class ; @@ -212941,8 +220341,6 @@ OMIM:605910 a owl:Class ; PMID:31672914 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:615881 ; - oboInOwl:hasDbXref UMLS:C1423931, - UMLS:C4016952 ; oboInOwl:hasExactSynonym "ANGPTL4", "angiopoietin-like 4", "fasting-induced adipose factor", @@ -212950,7 +220348,10 @@ OMIM:605910 a owl:Class ; "pparg angiopoietin-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51129 ; - skos:exactMatch HGNC_symbol:ANGPTL4 ; + skos:exactMatch UMLS:C1423931, + UMLS:C4016952, + HGNC:16039, + HGNC_symbol:ANGPTL4 ; biolink:category biolink:Gene . OMIM:605912 a owl:Class ; @@ -212959,14 +220360,15 @@ OMIM:605912 a owl:Class ; PMID:12421822, PMID:15954904, PMID:22582013 ; - oboInOwl:hasDbXref UMLS:C1421950 ; oboInOwl:hasExactSynonym "MEPE", "extracellular matrix phosphoglycoprotein, asarm motif-containing", "matrix, extracellular, phosphoglycoprotein", "osteoblast/osteocyte factor 45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56955 ; - skos:exactMatch HGNC_symbol:MEPE ; + skos:exactMatch UMLS:C1421950, + HGNC:13361, + HGNC_symbol:MEPE ; biolink:category biolink:Gene . OMIM:605914 a owl:Class ; @@ -212975,38 +220377,41 @@ OMIM:605914 a owl:Class ; PMID:10751351, PMID:11728344, PMID:19349318 ; - oboInOwl:hasDbXref UMLS:C1425348 ; oboInOwl:hasExactSynonym " iia 1 transmembrane protein fn14", "TNFRSF12A", "tumor necrosis factor receptor superfamily, member 12a", "tweak receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51330 ; - skos:exactMatch HGNC_symbol:TNFRSF12A ; + skos:exactMatch UMLS:C1425348, + HGNC:18152, + HGNC_symbol:TNFRSF12A ; biolink:category biolink:Gene . OMIM:605915 a owl:Class ; rdfs:label "TBL3" ; IAO:0000142 PMID:24754225, PMID:8307582 ; - oboInOwl:hasDbXref UMLS:C1420601 ; oboInOwl:hasExactSynonym "TBL3", "transducin-beta-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10607 ; - skos:exactMatch HGNC_symbol:TBL3 ; + skos:exactMatch UMLS:C1420601, + HGNC:11587, + HGNC_symbol:TBL3 ; biolink:category biolink:Gene . OMIM:605916 a owl:Class ; rdfs:label "SPTBN5" ; IAO:0000142 PMID:10764729 ; - oboInOwl:hasDbXref UMLS:C1423653 ; oboInOwl:hasExactSynonym "SPTBN5", "spectrin, beta, nonerythrocytic, 5", "spectrin, beta-v" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51332 ; - skos:exactMatch HGNC_symbol:SPTBN5 ; + skos:exactMatch UMLS:C1423653, + HGNC:15680, + HGNC_symbol:SPTBN5 ; biolink:category biolink:Gene . OMIM:605917 a owl:Class ; @@ -213018,7 +220423,6 @@ OMIM:605917 a owl:Class ; PMID:17081976, PMID:19818618, PMID:9207457 ; - oboInOwl:hasDbXref UMLS:C1412939 ; oboInOwl:hasExactSynonym "TPX2", "chromosome 20 open reading frame 1", "p100", @@ -213026,21 +220430,24 @@ OMIM:605917 a owl:Class ; "tpx2, xenopus, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22974 ; - skos:exactMatch HGNC_symbol:TPX2 ; + skos:exactMatch UMLS:C1412939, + HGNC:1249, + HGNC_symbol:TPX2 ; biolink:category biolink:Gene . OMIM:605918 a owl:Class ; rdfs:label "SPON2" ; IAO:0000142 PMID:10512675, PMID:14691481 ; - oboInOwl:hasDbXref UMLS:C1420367 ; oboInOwl:hasExactSynonym "SPON2", "m-spondin", "mindin", "spondin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10417 ; - skos:exactMatch HGNC_symbol:SPON2 ; + skos:exactMatch UMLS:C1420367, + HGNC:11253, + HGNC_symbol:SPON2 ; biolink:category biolink:Gene . OMIM:605919 a owl:Class ; @@ -213050,13 +220457,14 @@ OMIM:605919 a owl:Class ; OMIM:605920 a owl:Class ; rdfs:label "STAU2" ; IAO:0000142 PMID:10585778 ; - oboInOwl:hasDbXref UMLS:C1420457 ; oboInOwl:hasExactSynonym "STAU2", "staufen double-stranded rna-binding protein 2", "staufen, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27067 ; - skos:exactMatch HGNC_symbol:STAU2 ; + skos:exactMatch UMLS:C1420457, + HGNC:11371, + HGNC_symbol:STAU2 ; biolink:category biolink:Gene . OMIM:605921 a owl:Class ; @@ -213108,27 +220516,29 @@ OMIM:605921 a owl:Class ; PMID:8921403 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:185070 ; - oboInOwl:hasDbXref UMLS:C1335879, - UMLS:C1861451, - UMLS:C2748557, - UMLS:C4011726 ; oboInOwl:hasExactSynonym "STIM1", "stromal interaction molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6786 ; - skos:exactMatch HGNC_symbol:STIM1 ; + skos:exactMatch UMLS:C1335879, + UMLS:C1861451, + UMLS:C2748557, + UMLS:C4011726, + HGNC:11386, + HGNC_symbol:STIM1 ; biolink:category biolink:Gene . OMIM:605922 a owl:Class ; rdfs:label "IMPA2" ; IAO:0000142 PMID:10822344, PMID:9322233 ; - oboInOwl:hasDbXref UMLS:C1416426 ; oboInOwl:hasExactSynonym "IMPA2", "myoinositol monophosphatase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3613 ; - skos:exactMatch HGNC_symbol:IMPA2 ; + skos:exactMatch UMLS:C1416426, + HGNC:6051, + HGNC_symbol:IMPA2 ; biolink:category biolink:Gene . OMIM:605923 a owl:Class ; @@ -213139,13 +220549,14 @@ OMIM:605923 a owl:Class ; PMID:15753123, PMID:18342849, PMID:29373757 ; - oboInOwl:hasDbXref UMLS:C1420330, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "SOX8", "sry-box 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30812 ; - skos:exactMatch HGNC_symbol:SOX8 ; + skos:exactMatch UMLS:C1420330, + UMLS:C2986382, + HGNC:11203, + HGNC_symbol:SOX8 ; biolink:category biolink:Gene . OMIM:605924 a owl:Class ; @@ -213158,7 +220569,6 @@ OMIM:605924 a owl:Class ; PMID:30079490 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:618346 ; - oboInOwl:hasDbXref UMLS:C1421495 ; oboInOwl:hasExactSynonym "WDR4", "trm82", "trna (guanine-n(7)-)-methyltransferase noncatalytic subunit wdr4", @@ -213166,7 +220576,9 @@ OMIM:605924 a owl:Class ; "wd repeat-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10785 ; - skos:exactMatch HGNC_symbol:WDR4 ; + skos:exactMatch UMLS:C1421495, + HGNC:12756, + HGNC_symbol:WDR4 ; biolink:category biolink:Gene . OMIM:605925 a owl:Class ; @@ -213186,7 +220598,6 @@ OMIM:605925 a owl:Class ; PMID:8812505 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:210720 ; - oboInOwl:hasDbXref UMLS:C1826553 ; oboInOwl:hasExactSynonym "PCNT", "kendrin", "pericentrin", @@ -213194,7 +220605,9 @@ OMIM:605925 a owl:Class ; "pericentrin B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5116 ; - skos:exactMatch HGNC_symbol:PCNT ; + skos:exactMatch UMLS:C1826553, + HGNC:16068, + HGNC_symbol:PCNT ; biolink:category biolink:Gene . OMIM:605926 a owl:Class ; @@ -213208,7 +220621,6 @@ OMIM:605926 a owl:Class ; PMID:16543133, PMID:19258705, PMID:7844141 ; - oboInOwl:hasDbXref UMLS:C1826583 ; oboInOwl:hasExactSynonym "PICK1", "pick", "prkca-binding protein", @@ -213216,20 +220628,23 @@ OMIM:605926 a owl:Class ; "protein kinase c-alpha-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9463 ; - skos:exactMatch HGNC_symbol:PICK1 ; + skos:exactMatch UMLS:C1826583, + HGNC:9394, + HGNC_symbol:PICK1 ; biolink:category biolink:Gene . OMIM:605927 a owl:Class ; rdfs:label "MDM2BP" ; IAO:0000142 PMID:10906133, PMID:11060448 ; - oboInOwl:hasDbXref UMLS:C1417411 ; oboInOwl:hasExactSynonym "MDM2BP", "mdm2-binding protein", "mouse double minute 2 homolog, binding protein of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27085 ; - skos:exactMatch HGNC_symbol:MTBP ; + skos:exactMatch UMLS:C1417411, + HGNC:7417, + HGNC_symbol:MTBP ; biolink:category biolink:Gene . OMIM:605928 a owl:Class ; @@ -213237,25 +220652,27 @@ OMIM:605928 a owl:Class ; IAO:0000142 PMID:10413101, PMID:8106346, PMID:9038142 ; - oboInOwl:hasDbXref UMLS:C1427585 ; oboInOwl:hasExactSynonym "ARFIP1", "adp-ribosylation factor-interacting protein 1", "arfaptin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27236 ; - skos:exactMatch HGNC_symbol:ARFIP1 ; + skos:exactMatch UMLS:C1427585, + HGNC:21496, + HGNC_symbol:ARFIP1 ; biolink:category biolink:Gene . OMIM:605929 a owl:Class ; rdfs:label "SNX2" ; IAO:0000142 PMID:20133524, PMID:9819414 ; - oboInOwl:hasDbXref UMLS:C1420301 ; oboInOwl:hasExactSynonym "SNX2", "sorting nexin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6643 ; - skos:exactMatch HGNC_symbol:SNX2 ; + skos:exactMatch UMLS:C1420301, + HGNC:11173, + HGNC_symbol:SNX2 ; biolink:category biolink:Gene . OMIM:605930 a owl:Class ; @@ -213263,23 +220680,25 @@ OMIM:605930 a owl:Class ; IAO:0000142 PMID:12471201, PMID:8287191, PMID:9819414 ; - oboInOwl:hasDbXref UMLS:C1420302 ; oboInOwl:hasExactSynonym "SNX3", "sorting nexin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8724 ; - skos:exactMatch HGNC_symbol:SNX3 ; + skos:exactMatch UMLS:C1420302, + HGNC:11174, + HGNC_symbol:SNX3 ; biolink:category biolink:Gene . OMIM:605931 a owl:Class ; rdfs:label "SNX4" ; IAO:0000142 PMID:9819414 ; - oboInOwl:hasDbXref UMLS:C1420303 ; oboInOwl:hasExactSynonym "SNX4", "sorting nexin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8723 ; - skos:exactMatch HGNC_symbol:SNX4 ; + skos:exactMatch UMLS:C1420303, + HGNC:11175, + HGNC_symbol:SNX4 ; biolink:category biolink:Gene . OMIM:605932 a owl:Class ; @@ -213287,12 +220706,13 @@ OMIM:605932 a owl:Class ; IAO:0000142 PMID:11087663, PMID:18230605, PMID:18457970 ; - oboInOwl:hasDbXref UMLS:C1412795 ; oboInOwl:hasExactSynonym "BHMT2", "betaine-homocysteine methyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23743 ; - skos:exactMatch HGNC_symbol:BHMT2 ; + skos:exactMatch UMLS:C1412795, + HGNC:1048, + HGNC_symbol:BHMT2 ; biolink:category biolink:Gene . OMIM:605933 a owl:Class ; @@ -213303,7 +220723,6 @@ OMIM:605933 a owl:Class ; PMID:16061724, PMID:18952287, PMID:23980096 ; - oboInOwl:hasDbXref UMLS:C1539977 ; oboInOwl:hasExactSynonym "TM7SF4", "dendritic cell-specific transmembrane protein", "il4-induced gene", @@ -213311,36 +220730,40 @@ OMIM:605933 a owl:Class ; "transmembrane 7 superfamily, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81501 ; - skos:exactMatch HGNC_symbol:DCSTAMP ; + skos:exactMatch UMLS:C1539977, + HGNC:18549, + HGNC_symbol:DCSTAMP ; biolink:category biolink:Gene . OMIM:605935 a owl:Class ; rdfs:label "arthropathy, erosive" ; IAO:0000142 PMID:11343304 ; - oboInOwl:hasDbXref UMLS:C1853829 ; - oboInOwl:hasExactSynonym "arthropathy, erosive" . + oboInOwl:hasExactSynonym "arthropathy, erosive" ; + skos:exactMatch UMLS:C1853829 . OMIM:605936 a owl:Class ; rdfs:label "BIN2" ; IAO:0000142 PMID:10903846 ; - oboInOwl:hasDbXref UMLS:C1412797 ; oboInOwl:hasExactSynonym "BIN2", "bridging integrator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51411 ; - skos:exactMatch HGNC_symbol:BIN2 ; + skos:exactMatch UMLS:C1412797, + HGNC:1053, + HGNC_symbol:BIN2 ; biolink:category biolink:Gene . OMIM:605937 a owl:Class ; rdfs:label "SNX5" ; IAO:0000142 PMID:10600472, PMID:20133524 ; - oboInOwl:hasDbXref UMLS:C1423096 ; oboInOwl:hasExactSynonym "SNX5", "sorting nexin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27131 ; - skos:exactMatch HGNC_symbol:SNX5 ; + skos:exactMatch UMLS:C1423096, + HGNC:14969, + HGNC_symbol:SNX5 ; biolink:category biolink:Gene . OMIM:605938 a owl:Class ; @@ -213353,14 +220776,15 @@ OMIM:605938 a owl:Class ; PMID:32042915 ; RO:0002525 CHR:9606chr21q22.13 ; RO:0003303 OMIM:617599 ; - oboInOwl:hasDbXref UMLS:C1826586, - UMLS:C4539843 ; oboInOwl:hasExactSynonym "PIGP", "down syndrome critical region gene 5", "phosphatidylinositol glycan anchor biosynthesis class p protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51227 ; - skos:exactMatch HGNC_symbol:PIGP ; + skos:exactMatch UMLS:C1826586, + UMLS:C4539843, + HGNC:3046, + HGNC_symbol:PIGP ; biolink:category biolink:Gene . OMIM:605939 a owl:Class ; @@ -213369,12 +220793,13 @@ OMIM:605939 a owl:Class ; PMID:11340203, PMID:8381210, PMID:8550568 ; - oboInOwl:hasDbXref UMLS:C1418637 ; oboInOwl:hasExactSynonym "PLCD4", "phospholipase c, delta-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84812 ; - skos:exactMatch HGNC_symbol:PLCD4 ; + skos:exactMatch UMLS:C1418637, + HGNC:9062, + HGNC_symbol:PLCD4 ; biolink:category biolink:Gene . OMIM:605940 a owl:Class ; @@ -213382,7 +220807,6 @@ OMIM:605940 a owl:Class ; IAO:0000142 PMID:10965107, PMID:9310187, PMID:9749536 ; - oboInOwl:hasDbXref UMLS:C1412739 ; oboInOwl:hasExactSynonym "BASP1", "brain acid-soluble protein 1", "brain-abundant signal protein, membrane-attached, 1", @@ -213390,7 +220814,9 @@ OMIM:605940 a owl:Class ; "nap22, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10409 ; - skos:exactMatch HGNC_symbol:BASP1 ; + skos:exactMatch UMLS:C1412739, + HGNC:957, + HGNC_symbol:BASP1 ; biolink:category biolink:Gene . OMIM:605941 a owl:Class ; @@ -213400,14 +220826,15 @@ OMIM:605941 a owl:Class ; PMID:15616564, PMID:9449708, PMID:9856836 ; - oboInOwl:hasDbXref UMLS:C1419819 ; oboInOwl:hasExactSynonym "SART1", "homs1", "spliceosome-associated factor 1, recruiter of u4/u6.u5 tri-snrnp", "squamous cell carcinoma antigen recognized by t cells 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9092 ; - skos:exactMatch HGNC_symbol:SART1 ; + skos:exactMatch UMLS:C1419819, + HGNC:10538, + HGNC_symbol:SART1 ; biolink:category biolink:Gene . OMIM:605942 a owl:Class ; @@ -213418,47 +220845,49 @@ OMIM:605942 a owl:Class ; PMID:25703627 ; RO:0002525 CHR:9606chr6q22.1 ; RO:0003303 OMIM:615539 ; - oboInOwl:hasDbXref UMLS:C1427359 ; oboInOwl:hasExactSynonym "DSE", "dermatan sulfate epimerase", "squamous cell carcinoma antigen recognized by t cells 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29940 ; - skos:exactMatch HGNC_symbol:DSE ; + skos:exactMatch UMLS:C1427359, + HGNC:21144, + HGNC_symbol:DSE ; biolink:category biolink:Gene . OMIM:605943 a owl:Class ; rdfs:label "GDE1" ; IAO:0000142 PMID:10493829, PMID:10760272 ; - oboInOwl:hasDbXref UMLS:C1853828 ; oboInOwl:hasExactSynonym "GDE1", "glycerophosphodiester phosphodiesterase 1", "membrane interacting protein of rgs16", "rgs16-interacting membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51573 ; - skos:exactMatch HGNC_symbol:GDE1 ; + skos:exactMatch UMLS:C1853828, + HGNC:29644, + HGNC_symbol:GDE1 ; biolink:category biolink:Gene . OMIM:605944 a owl:Class ; rdfs:label "liver fibrocystic disease and polydactyly" ; IAO:0000142 PMID:11343330 ; - oboInOwl:hasDbXref UMLS:C1853827 ; - oboInOwl:hasExactSynonym "liver fibrocystic disease and polydactyly" . + oboInOwl:hasExactSynonym "liver fibrocystic disease and polydactyly" ; + skos:exactMatch UMLS:C1853827 . OMIM:605945 a owl:Class ; rdfs:label "crumpled helices and small mouth" ; IAO:0000142 PMID:11343342 ; - oboInOwl:hasDbXref UMLS:C1853826 ; - oboInOwl:hasExactSynonym "crumpled helices and small mouth" . + oboInOwl:hasExactSynonym "crumpled helices and small mouth" ; + skos:exactMatch UMLS:C1853826 . OMIM:605946 a owl:Class ; rdfs:label "metaphyseal dysplasia, braun-tinschert iia" ; IAO:0000142 PMID:11343343, PMID:16691581 ; - oboInOwl:hasDbXref UMLS:C1853825 ; oboInOwl:hasExactSynonym "metaphyseal dysplasia, braun-tinschert iia" ; + skos:exactMatch UMLS:C1853825 ; biolink:category biolink:Disease . OMIM:605947 a owl:Class ; @@ -213476,38 +220905,41 @@ OMIM:605947 a owl:Class ; PMID:9295069 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:280000 ; - oboInOwl:hasDbXref UMLS:C1418567 ; oboInOwl:hasExactSynonym "PIGL", "phosphatidylinositol glycan anchor biosynthesis class 50 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9487 ; - skos:exactMatch HGNC_symbol:PIGL ; + skos:exactMatch UMLS:C1418567, + HGNC:8966, + HGNC_symbol:PIGL ; biolink:category biolink:Gene . OMIM:605948 a owl:Class ; rdfs:label "GPRC5B" ; IAO:0000142 PMID:10783259, PMID:10945465 ; - oboInOwl:hasDbXref UMLS:C1421930 ; oboInOwl:hasExactSynonym "GPRC5B", "g protein-coupled receptor, family c, group 5, member B", "retinoic acid-inducible gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51704 ; - skos:exactMatch HGNC_symbol:GPRC5B ; + skos:exactMatch UMLS:C1421930, + HGNC:13308, + HGNC_symbol:GPRC5B ; biolink:category biolink:Gene . OMIM:605949 a owl:Class ; rdfs:label "GPRC5C" ; IAO:0000142 PMID:10945465, PMID:16229975 ; - oboInOwl:hasDbXref UMLS:C1333697 ; oboInOwl:hasExactSynonym "GPRC5C", "g protein-coupled receptor, family c, group 5, member c", "retinoic acid-inducible gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55890 ; - skos:exactMatch HGNC_symbol:GPRC5C ; + skos:exactMatch UMLS:C1333697, + HGNC:13309, + HGNC_symbol:GPRC5C ; biolink:category biolink:Gene . OMIM:605950 a owl:Class ; @@ -213519,12 +220951,13 @@ OMIM:605950 a owl:Class ; PMID:9512502 ; RO:0002525 CHR:9606chr4q31.1 ; RO:0003303 OMIM:615222 ; - oboInOwl:hasDbXref UMLS:C1423958 ; oboInOwl:hasExactSynonym "RAB33B", "ras-associated protein rab33b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83452 ; - skos:exactMatch HGNC_symbol:RAB33B ; + skos:exactMatch UMLS:C1423958, + HGNC:16075, + HGNC_symbol:RAB33B ; biolink:category biolink:Gene . OMIM:605951 a owl:Class ; @@ -213536,16 +220969,17 @@ OMIM:605951 a owl:Class ; PMID:31469168 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:612937 ; - oboInOwl:hasDbXref UMLS:C1414139, - UMLS:C2752007, - UMLS:C5436552 ; oboInOwl:hasExactSynonym "DPM3", "dolichol-phosphate mannosyltransferase 3", "dolichol-phosphate-mannose synthase 3", "dolichyl-phosphate mannosyltransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54344 ; - skos:exactMatch HGNC_symbol:DPM3 ; + skos:exactMatch UMLS:C1414139, + UMLS:C2752007, + UMLS:C5436552, + HGNC:3007, + HGNC_symbol:DPM3 ; biolink:category biolink:Gene . OMIM:605952 a owl:Class ; @@ -213554,20 +220988,20 @@ OMIM:605952 a owl:Class ; PMID:17609109, PMID:22718350, PMID:23823722 ; - oboInOwl:hasDbXref UMLS:C1423100 ; oboInOwl:hasExactSynonym "SNX9", "sh3 domain- and px domain-containing protein", "sorting nexin 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51429 ; - skos:exactMatch HGNC_symbol:SNX9 ; + skos:exactMatch UMLS:C1423100, + HGNC:14973, + HGNC_symbol:SNX9 ; biolink:category biolink:Gene . OMIM:605953 a owl:Class ; rdfs:label "ASAP1" ; IAO:0000142 PMID:25774636, PMID:9819391 ; - oboInOwl:hasDbXref UMLS:C1413944 ; oboInOwl:hasExactSynonym "ASAP1", "adp-ribosylation factor-directed gtpase-activating protein", "arf gtpase-activating protein 1", @@ -213575,7 +221009,9 @@ OMIM:605953 a owl:Class ; "development- and differentiation-enhancing factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50807 ; - skos:exactMatch HGNC_symbol:ASAP1 ; + skos:exactMatch UMLS:C1413944, + HGNC:2720, + HGNC_symbol:ASAP1 ; biolink:category biolink:Gene . OMIM:605954 a owl:Class ; @@ -213584,12 +221020,13 @@ OMIM:605954 a owl:Class ; PMID:10947975, PMID:12943536, PMID:23562279 ; - oboInOwl:hasDbXref UMLS:C1414589 ; oboInOwl:hasExactSynonym "FETUB", "fetuin B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26998 ; - skos:exactMatch HGNC_symbol:FETUB ; + skos:exactMatch UMLS:C1414589, + HGNC:3658, + HGNC_symbol:FETUB ; biolink:category biolink:Gene . OMIM:605955 a owl:Class ; @@ -213601,8 +221038,6 @@ OMIM:605955 a owl:Class ; PMID:8096811 ; RO:0002525 CHR:9606chr10q26.3 ; RO:0003303 OMIM:617560 ; - oboInOwl:hasDbXref UMLS:C1426161, - UMLS:C4479653 ; oboInOwl:hasExactSynonym "NKX6-2", "homeobox 6b, nk", "nk homeobox, family 6, member B", @@ -213611,7 +221046,10 @@ OMIM:605955 a owl:Class ; "nkx6.2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84504 ; - skos:exactMatch HGNC_symbol:NKX6-2 ; + skos:exactMatch UMLS:C1426161, + UMLS:C4479653, + HGNC:19321, + HGNC_symbol:NKX6-2 ; biolink:category biolink:Gene . OMIM:605956 a owl:Class ; @@ -213677,13 +221115,14 @@ OMIM:605956 a owl:Class ; PMID:9259283 ; RO:0002525 CHR:9606chr16q12.1 ; RO:0003303 OMIM:617321 ; - oboInOwl:hasDbXref UMLS:C1826449 ; oboInOwl:hasExactSynonym "NOD2", "caspase recruitment domain-containing protein 15", "nucleotide-binding oligomerization domain protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64127 ; - skos:exactMatch HGNC_symbol:NOD2 ; + skos:exactMatch UMLS:C1826449, + HGNC:5331, + HGNC_symbol:NOD2 ; biolink:category biolink:Gene . OMIM:605957 a owl:Class ; @@ -213698,28 +221137,28 @@ OMIM:605958 a owl:Class ; PMID:9104814 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:616777 ; - oboInOwl:hasDbXref UMLS:C2608049 ; oboInOwl:hasExactSynonym "TRAIP", "ring finger protein 206", "traf-interacting protein", "trip" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10293 ; - skos:exactMatch HGNC_symbol:TRAIP ; + skos:exactMatch UMLS:C2608049, + HGNC:30764, + HGNC_symbol:TRAIP ; biolink:category biolink:Gene . OMIM:605959 a owl:Class ; rdfs:label "hr44 antigen" ; IAO:0000142 PMID:7561685 ; - oboInOwl:hasDbXref UMLS:C1853813 ; oboInOwl:hasExactSynonym "hr44", - "hr44 antigen" . + "hr44 antigen" ; + skos:exactMatch UMLS:C1853813 . OMIM:605960 a owl:Class ; rdfs:label "EXOSC10" ; IAO:0000142 PMID:1383382, PMID:1644924 ; - oboInOwl:hasDbXref UMLS:C1539372 ; oboInOwl:hasExactSynonym "EXOSC10", "exosome component 10", "pmscl autoantigen, 100-kd", @@ -213727,32 +221166,36 @@ OMIM:605960 a owl:Class ; "polymyositis/scleroderma autoantigen, 100-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5394 ; - skos:exactMatch HGNC_symbol:EXOSC10 ; + skos:exactMatch UMLS:C1539372, + HGNC:9138, + HGNC_symbol:EXOSC10 ; biolink:category biolink:Gene . OMIM:605961 a owl:Class ; rdfs:label "PLRG1" ; IAO:0000142 PMID:19307306, PMID:9765207 ; - oboInOwl:hasDbXref UMLS:C1418656 ; oboInOwl:hasExactSynonym "PLRG1", "pleiotropic regulator 1", "prl1, arabidopsis, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5356 ; - skos:exactMatch HGNC_symbol:PLRG1 ; + skos:exactMatch UMLS:C1418656, + HGNC:9089, + HGNC_symbol:PLRG1 ; biolink:category biolink:Gene . OMIM:605962 a owl:Class ; rdfs:label "RABEPK" ; IAO:0000142 PMID:9230071 ; - oboInOwl:hasDbXref UMLS:C1826761 ; oboInOwl:hasExactSynonym "RABEPK", "rab9 effector protein with kelch motifs", "rab9 effector, 40-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10244 ; - skos:exactMatch HGNC_symbol:RABEPK ; + skos:exactMatch UMLS:C1826761, + HGNC:16896, + HGNC_symbol:RABEPK ; biolink:category biolink:Gene . OMIM:605963 a owl:Class ; @@ -213760,24 +221203,26 @@ OMIM:605963 a owl:Class ; IAO:0000142 PMID:11237770, PMID:28892079, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1423106 ; oboInOwl:hasExactSynonym "SNX17", "sorting nexin 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9784 ; - skos:exactMatch HGNC_symbol:SNX17 ; + skos:exactMatch UMLS:C1423106, + HGNC:14979, + HGNC_symbol:SNX17 ; biolink:category biolink:Gene . OMIM:605964 a owl:Class ; rdfs:label "SNX15" ; IAO:0000142 PMID:11085978, PMID:9253601 ; - oboInOwl:hasDbXref UMLS:C1423105 ; oboInOwl:hasExactSynonym "SNX15", "sorting nexin 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29907 ; - skos:exactMatch HGNC_symbol:SNX15 ; + skos:exactMatch UMLS:C1423105, + HGNC:14978, + HGNC_symbol:SNX15 ; biolink:category biolink:Gene . OMIM:605965 a owl:Class ; @@ -213785,13 +221230,14 @@ OMIM:605965 a owl:Class ; IAO:0000142 PMID:1849280, PMID:7862125, PMID:9144171 ; - oboInOwl:hasDbXref UMLS:C1425755 ; oboInOwl:hasExactSynonym "RIN1", "ras and rab interactor 1", "ras inhibitor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9610 ; - skos:exactMatch HGNC_symbol:RIN1 ; + skos:exactMatch UMLS:C1425755, + HGNC:18749, + HGNC_symbol:RIN1 ; biolink:category biolink:Gene . OMIM:605966 a owl:Class ; @@ -213799,88 +221245,95 @@ OMIM:605966 a owl:Class ; IAO:0000142 PMID:10786614, PMID:30988513, PMID:8622695 ; - oboInOwl:hasDbXref UMLS:C1415631 ; oboInOwl:hasExactSynonym "HNF4G", "hepatocyte nuclear factor 4-gamma", "hnf4-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3174 ; - skos:exactMatch HGNC_symbol:HNF4G ; + skos:exactMatch UMLS:C1415631, + HGNC:5026, + HGNC_symbol:HNF4G ; biolink:category biolink:Gene . OMIM:605968 a owl:Class ; rdfs:label "RFPL1" ; IAO:0000142 PMID:10508838, PMID:18656177 ; - oboInOwl:hasDbXref UMLS:C1419354 ; oboInOwl:hasExactSynonym "RFPL1", "ret finger protein-like 1", "rfp-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5988 ; - skos:exactMatch HGNC_symbol:RFPL1 ; + skos:exactMatch UMLS:C1419354, + HGNC:9977, + HGNC_symbol:RFPL1 ; biolink:category biolink:Gene . OMIM:605969 a owl:Class ; rdfs:label "RFPL2" ; IAO:0000142 PMID:10508838, PMID:18656177 ; - oboInOwl:hasDbXref UMLS:C1419356 ; oboInOwl:hasExactSynonym "RFPL2", "ret finger protein-like 2", "rfp-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10739 ; - skos:exactMatch HGNC_symbol:RFPL2 ; + skos:exactMatch UMLS:C1419356, + HGNC:9979, + HGNC_symbol:RFPL2 ; biolink:category biolink:Gene . OMIM:605970 a owl:Class ; rdfs:label "RFPL3" ; IAO:0000142 PMID:10508838, PMID:18656177 ; - oboInOwl:hasDbXref UMLS:C1419357 ; oboInOwl:hasExactSynonym "RFPL3", "ret finger protein-like 3", "rfp-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10738 ; - skos:exactMatch HGNC_symbol:RFPL3 ; + skos:exactMatch UMLS:C1419357, + HGNC:9980, + HGNC_symbol:RFPL3 ; biolink:category biolink:Gene . OMIM:605971 a owl:Class ; rdfs:label "RFPL3S" ; IAO:0000142 PMID:10508838 ; - oboInOwl:hasDbXref UMLS:C1419358 ; oboInOwl:hasExactSynonym "RFPL3S", "ret finger protein-like 3, antisense", "rfp-like 3, antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10737 ; - skos:exactMatch HGNC_symbol:RFPL3S ; + skos:exactMatch UMLS:C1419358, + HGNC:9981, + HGNC_symbol:RFPL3S ; biolink:category biolink:Gene . OMIM:605972 a owl:Class ; rdfs:label "RFPL1S" ; IAO:0000142 PMID:10508838 ; - oboInOwl:hasDbXref UMLS:C1419355 ; oboInOwl:hasExactSynonym "RFPL1S", "ret finger protein-like 1, antisense", "rfp-like 1, antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10740 ; - skos:exactMatch HGNC_symbol:RFPL1S ; + skos:exactMatch UMLS:C1419355, + HGNC:9978, + HGNC_symbol:RFPL1S ; biolink:category biolink:Gene . OMIM:605973 a owl:Class ; rdfs:label "DCAF7" ; IAO:0000142 PMID:9192870 ; - oboInOwl:hasDbXref UMLS:C1823832 ; oboInOwl:hasExactSynonym "DCAF7", "an11, petunia, homolog of", "ddb1- and cul4-associated factor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10238 ; - skos:exactMatch HGNC_symbol:DCAF7 ; + skos:exactMatch UMLS:C1823832, + HGNC:30915, + HGNC_symbol:DCAF7 ; biolink:category biolink:Gene . OMIM:605974 a owl:Class ; @@ -213889,44 +221342,46 @@ OMIM:605974 a owl:Class ; PMID:10647016, PMID:12097342, PMID:12764196 ; - oboInOwl:hasDbXref UMLS:C1822774 ; oboInOwl:hasExactSynonym "SLU7", "slu7 homolog, splicing factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10569 ; - skos:exactMatch HGNC_symbol:SLU7 ; + skos:exactMatch UMLS:C1822774, + HGNC:16939, + HGNC_symbol:SLU7 ; biolink:category biolink:Gene . OMIM:605975 a owl:Class ; rdfs:label "SRRM1" ; IAO:0000142 PMID:9531537 ; - oboInOwl:hasDbXref UMLS:C1424457 ; oboInOwl:hasExactSynonym "SRRM1", "serine/arginine repetitive matrix protein 1", "serine/arginine-rich splicing factor-related nuclear matrix protein, 160-kd", "sr-related nuclear matrix protein, 160-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10250 ; - skos:exactMatch HGNC_symbol:SRRM1 ; + skos:exactMatch UMLS:C1424457, + HGNC:16638, + HGNC_symbol:SRRM1 ; biolink:category biolink:Gene . OMIM:605976 a owl:Class ; rdfs:label "ZBTB6" ; IAO:0000142 PMID:7958847 ; - oboInOwl:hasDbXref UMLS:C1823901 ; oboInOwl:hasExactSynonym "ZBTB6", "zinc finger protein with interaction domain", "zinc finger- and btb domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10773 ; - skos:exactMatch HGNC_symbol:ZBTB6 ; + skos:exactMatch UMLS:C1823901, + HGNC:16764, + HGNC_symbol:ZBTB6 ; biolink:category biolink:Gene . OMIM:605977 a owl:Class ; rdfs:label "IMMP2L" ; IAO:0000142 PMID:15814844, PMID:8900226 ; - oboInOwl:hasDbXref UMLS:C1422779 ; oboInOwl:hasExactSynonym "IMMP2L", "imp2, s. cerevisiae, homolog of", "imp2-like", @@ -213934,7 +221389,9 @@ OMIM:605977 a owl:Class ; "inner mitochondrial membrane peptidase, subunit 2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83943 ; - skos:exactMatch HGNC_symbol:IMMP2L ; + skos:exactMatch UMLS:C1422779, + HGNC:14598, + HGNC_symbol:IMMP2L ; biolink:category biolink:Gene . OMIM:605978 a owl:Class ; @@ -213950,7 +221407,6 @@ OMIM:605978 a owl:Class ; PMID:21598378 ; RO:0002525 CHR:9606chr9q21.2 ; RO:0003303 OMIM:200150 ; - oboInOwl:hasDbXref UMLS:C1413372 ; oboInOwl:hasExactSynonym "VPS13A", "chac gene", "chorein", @@ -213959,19 +221415,22 @@ OMIM:605978 a owl:Class ; "vacuolar protein sorting 13, yeast, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23230 ; - skos:exactMatch HGNC_symbol:VPS13A ; + skos:exactMatch UMLS:C1413372, + HGNC:1908, + HGNC_symbol:VPS13A ; biolink:category biolink:Gene . OMIM:605979 a owl:Class ; rdfs:label "SNAPC5" ; IAO:0000142 PMID:9732265 ; - oboInOwl:hasDbXref UMLS:C1423522 ; oboInOwl:hasExactSynonym "SNAPC5", "small nuclear rna-activating protein complex, 19-kd subunit", "small nuclear rna-activating protein complex, polypeptide 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10302 ; - skos:exactMatch HGNC_symbol:SNAPC5 ; + skos:exactMatch UMLS:C1423522, + HGNC:15484, + HGNC_symbol:SNAPC5 ; biolink:category biolink:Gene . OMIM:605980 a owl:Class ; @@ -213993,13 +221452,14 @@ OMIM:605980 a owl:Class ; PMID:23542589, PMID:27007849, PMID:27479869 ; - oboInOwl:hasDbXref UMLS:C1826448 ; oboInOwl:hasExactSynonym "NOD1", "caspase recruitment domain-containing protein 4", "nucleotide-binding oligomerization domain protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10392 ; - skos:exactMatch HGNC_symbol:NOD1 ; + skos:exactMatch UMLS:C1826448, + HGNC:16390, + HGNC_symbol:NOD1 ; biolink:category biolink:Gene . OMIM:605981 a owl:Class ; @@ -214012,12 +221472,13 @@ OMIM:605981 a owl:Class ; PMID:9653112 ; RO:0002525 CHR:9606chr15q15.2 ; RO:0003303 OMIM:243800 ; - oboInOwl:hasDbXref UMLS:C1424562 ; oboInOwl:hasExactSynonym "UBR1", "ubiquitin-protein ligase e3 component n-recognin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197131 ; - skos:exactMatch HGNC_symbol:UBR1 ; + skos:exactMatch UMLS:C1424562, + HGNC:16808, + HGNC_symbol:UBR1 ; biolink:category biolink:Gene . OMIM:605982 a owl:Class ; @@ -214036,14 +221497,15 @@ OMIM:605983 a owl:Class ; PMID:9989501 ; RO:0002525 CHR:9606chr19q13.41 ; RO:0003303 OMIM:616362 ; - oboInOwl:hasDbXref UMLS:C1418837 ; oboInOwl:hasExactSynonym "PPP2R1A", "pr65-alpha", "protein phosphatase 2, 65-kd regulatory subunit a, alpha", "protein phosphatase 2, structural/regulatory subunit a, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5518 ; - skos:exactMatch HGNC_symbol:PPP2R1A ; + skos:exactMatch UMLS:C1418837, + HGNC:9302, + HGNC_symbol:PPP2R1A ; biolink:category biolink:Gene . OMIM:605984 a owl:Class ; @@ -214066,7 +221528,6 @@ OMIM:605984 a owl:Class ; PMID:9880543 ; RO:0002525 CHR:9606chr11q14.2 ; RO:0003303 OMIM:617561 ; - oboInOwl:hasDbXref UMLS:C1414269 ; oboInOwl:hasExactSynonym "EED", "eed, mouse, homolog of", "embryonic ectoderm development", @@ -214074,7 +221535,9 @@ OMIM:605984 a owl:Class ; "wd protein associating with integrin cytoplasmic tails 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8726 ; - skos:exactMatch HGNC_symbol:EED ; + skos:exactMatch UMLS:C1414269, + HGNC:3188, + HGNC_symbol:EED ; biolink:category biolink:Gene . OMIM:605985 a owl:Class ; @@ -214088,7 +221551,6 @@ OMIM:605986 a owl:Class ; PMID:16159890, PMID:16434402, PMID:17023415 ; - oboInOwl:hasDbXref UMLS:C1539888 ; oboInOwl:hasExactSynonym "STRAP", "mapk activator with wd repeats", "mitogen-activated protein kinase activator with wd repeats", @@ -214096,7 +221558,9 @@ OMIM:605986 a owl:Class ; "unr-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11171 ; - skos:exactMatch HGNC_symbol:STRAP ; + skos:exactMatch UMLS:C1539888, + HGNC:30796, + HGNC_symbol:STRAP ; biolink:category biolink:Gene . OMIM:605987 a owl:Class ; @@ -214104,12 +221568,13 @@ OMIM:605987 a owl:Class ; IAO:0000142 PMID:10319586, PMID:11709556, PMID:9388184 ; - oboInOwl:hasDbXref UMLS:C1335211 ; oboInOwl:hasExactSynonym "PIAS3", "protein inhibitor of activated stat3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10401 ; - skos:exactMatch HGNC_symbol:PIAS3 ; + skos:exactMatch UMLS:C1335211, + HGNC:16861, + HGNC_symbol:PIAS3 ; biolink:category biolink:Gene . OMIM:605988 a owl:Class ; @@ -214130,13 +221595,14 @@ OMIM:605988 a owl:Class ; PMID:26476407 ; RO:0002525 CHR:9606chr10p13 ; RO:0003303 OMIM:602450 ; - oboInOwl:hasDbXref UMLS:C1425020 ; oboInOwl:hasExactSynonym "DCLRE1C", "DNA cross-link repair protein 1c", "artemis" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64421 ; - skos:exactMatch HGNC_symbol:DCLRE1C ; + skos:exactMatch UMLS:C1425020, + HGNC:17642, + HGNC_symbol:DCLRE1C ; biolink:category biolink:Gene . OMIM:605989 a owl:Class ; @@ -214146,13 +221612,14 @@ OMIM:605989 a owl:Class ; PMID:16793547, PMID:20016603, PMID:9724754 ; - oboInOwl:hasDbXref UMLS:C1538643 ; oboInOwl:hasExactSynonym "PIAS4", "protein inhibitor of activated stat y", "protein inhibitor of activated stat4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51588 ; - skos:exactMatch HGNC_symbol:PIAS4 ; + skos:exactMatch UMLS:C1538643, + HGNC:17002, + HGNC_symbol:PIAS4 ; biolink:category biolink:Gene . OMIM:605991 a owl:Class ; @@ -214161,7 +221628,6 @@ OMIM:605991 a owl:Class ; PMID:11336673, PMID:19249276, PMID:20152127 ; - oboInOwl:hasDbXref UMLS:C1417718 ; oboInOwl:hasExactSynonym "NGEF", "eph receptor-interacting exchange protein", "ephexin", @@ -214170,7 +221636,9 @@ OMIM:605991 a owl:Class ; "neuronal guanine nucleotide exchange factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25791 ; - skos:exactMatch HGNC_symbol:NGEF ; + skos:exactMatch UMLS:C1417718, + HGNC:7807, + HGNC_symbol:NGEF ; biolink:category biolink:Gene . OMIM:605992 a owl:Class ; @@ -214178,12 +221646,13 @@ OMIM:605992 a owl:Class ; IAO:0000142 PMID:11137295, PMID:29420474, PMID:9022063 ; - oboInOwl:hasDbXref UMLS:C1422491 ; oboInOwl:hasExactSynonym "LHX5", "lim homeobox protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64211 ; - skos:exactMatch HGNC_symbol:LHX5 ; + skos:exactMatch UMLS:C1422491, + HGNC:14216, + HGNC_symbol:LHX5 ; biolink:category biolink:Gene . OMIM:605993 a owl:Class ; @@ -214195,8 +221664,6 @@ OMIM:605993 a owl:Class ; PMID:9651365 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:608782 ; - oboInOwl:hasDbXref UMLS:C1418818, - UMLS:C1837429 ; oboInOwl:hasExactSynonym "PDP1", "protein phosphatase, magnesium-dependent, 2, catalytic subunit", "protein phosphatase, magnesium-dependent, 2c", @@ -214205,19 +221672,23 @@ OMIM:605993 a owl:Class ; "pyruvate dehydrogenase phosphatase, catalytic subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54704 ; - skos:exactMatch HGNC_symbol:PDP1 ; + skos:exactMatch UMLS:C1418818, + UMLS:C1837429, + HGNC:9279, + HGNC_symbol:PDP1 ; biolink:category biolink:Gene . OMIM:605994 a owl:Class ; rdfs:label "CYP39A1" ; IAO:0000142 PMID:10748047 ; - oboInOwl:hasDbXref UMLS:C1424970 ; oboInOwl:hasExactSynonym "CYP39A1", "cytochrome p450, family 39, subfamily a, polypeptide 1", "oxysterol 7-alpha-hydroxylase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51302 ; - skos:exactMatch HGNC_symbol:CYP39A1 ; + skos:exactMatch UMLS:C1424970, + HGNC:17449, + HGNC_symbol:CYP39A1 ; biolink:category biolink:Gene . OMIM:605995 a owl:Class ; @@ -214235,13 +221706,14 @@ OMIM:605995 a owl:Class ; PMID:9409358 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:256700 ; - oboInOwl:hasDbXref UMLS:C1424456 ; oboInOwl:hasExactSynonym "KIF1B", "kiaa0591", "kinesin family member 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23095 ; - skos:exactMatch HGNC_symbol:KIF1B ; + skos:exactMatch UMLS:C1424456, + HGNC:16636, + HGNC_symbol:KIF1B ; biolink:category biolink:Gene . OMIM:605996 a owl:Class ; @@ -214252,21 +221724,21 @@ OMIM:605996 a owl:Class ; PMID:19812318, PMID:20802481, PMID:9799600 ; - oboInOwl:hasDbXref UMLS:C1414131 ; oboInOwl:hasExactSynonym "DXO", "decapping exoribonuclease", "dom3, c. elegans, homolog of, z", "rat1-interacting protein 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1797 ; - skos:exactMatch HGNC_symbol:DXO ; + skos:exactMatch UMLS:C1414131, + HGNC:2992, + HGNC_symbol:DXO ; biolink:category biolink:Gene . OMIM:605997 a owl:Class ; rdfs:label "PPP2R2C" ; IAO:0000142 PMID:10945473, PMID:20601260 ; - oboInOwl:hasDbXref UMLS:C1418840 ; oboInOwl:hasExactSynonym "PPP2R2C", "b55-gamma", "pr52", @@ -214274,7 +221746,9 @@ OMIM:605997 a owl:Class ; "protein phosphatase 2a, regulatory subunit b, gamma isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5522 ; - skos:exactMatch HGNC_symbol:PPP2R2C ; + skos:exactMatch UMLS:C1418840, + HGNC:9306, + HGNC_symbol:PPP2R2C ; biolink:category biolink:Gene . OMIM:605998 a owl:Class ; @@ -214292,19 +221766,19 @@ OMIM:605998 a owl:Class ; PMID:9058808 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:610738 ; - oboInOwl:hasDbXref UMLS:C1825449 ; oboInOwl:hasExactSynonym "HAX1", "hcls1-associated protein x1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10456 ; - skos:exactMatch HGNC_symbol:HAX1 ; + skos:exactMatch UMLS:C1825449, + HGNC:16915, + HGNC_symbol:HAX1 ; biolink:category biolink:Gene . OMIM:605999 a owl:Class ; rdfs:label "CLEC10A" ; IAO:0000142 PMID:19995956, PMID:8598452 ; - oboInOwl:hasDbXref UMLS:C1539104 ; oboInOwl:hasExactSynonym "CLEC10A", "c-type lectin domain family 10, member a", "cd301", @@ -214313,7 +221787,9 @@ OMIM:605999 a owl:Class ; "macrophage galactose-type c-type lectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10462 ; - skos:exactMatch HGNC_symbol:CLEC10A ; + skos:exactMatch UMLS:C1539104, + HGNC:16916, + HGNC_symbol:CLEC10A ; biolink:category biolink:Gene . OMIM:606000 a owl:Class ; @@ -214323,14 +221799,15 @@ OMIM:606000 a owl:Class ; PMID:16751379 ; RO:0002525 CHR:9606chr6p21.32 ; RO:0003303 OMIM:612387 ; - oboInOwl:hasDbXref UMLS:C1412849 ; oboInOwl:hasExactSynonym "BTNL2", "btl 2", "butyrophilin-like protein 2", "butyrophilin-like protein, major histocompatibility complex class ii-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56244 ; - skos:exactMatch HGNC_symbol:BTNL2 ; + skos:exactMatch UMLS:C1412849, + HGNC:1142, + HGNC_symbol:BTNL2 ; biolink:category biolink:Gene . OMIM:606001 a owl:Class ; @@ -214345,13 +221822,14 @@ OMIM:606001 a owl:Class ; PMID:20190143, PMID:21346229, PMID:9653642 ; - oboInOwl:hasDbXref UMLS:C1537404 ; oboInOwl:hasExactSynonym "IL32", "interleukin 32", "natural killer cell transcript 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9235 ; - skos:exactMatch HGNC_symbol:IL32 ; + skos:exactMatch UMLS:C1537404, + HGNC:16830, + HGNC_symbol:IL32 ; biolink:category biolink:Gene . OMIM:606004 a owl:Class ; @@ -214362,14 +221840,15 @@ OMIM:606004 a owl:Class ; PMID:11387475, PMID:12215646, PMID:12668765 ; - oboInOwl:hasDbXref UMLS:C1425123 ; oboInOwl:hasExactSynonym "GGA1", "adp-ribosylation factor-binding protein 1", "arf-binding protein 1", "golgi-associated, gamma-adaptin ear-containing, arf-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26088 ; - skos:exactMatch HGNC_symbol:GGA1 ; + skos:exactMatch UMLS:C1425123, + HGNC:17842, + HGNC_symbol:GGA1 ; biolink:category biolink:Gene . OMIM:606005 a owl:Class ; @@ -214379,7 +221858,6 @@ OMIM:606005 a owl:Class ; PMID:10747089, PMID:10814529, PMID:11387476 ; - oboInOwl:hasDbXref UMLS:C1423948 ; oboInOwl:hasExactSynonym "GGA2", "adp-ribosylation factor-binding protein 2", "arf-binding protein 2", @@ -214387,7 +221865,9 @@ OMIM:606005 a owl:Class ; "vhs domain- and ear domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23062 ; - skos:exactMatch HGNC_symbol:GGA2 ; + skos:exactMatch UMLS:C1423948, + HGNC:16064, + HGNC_symbol:GGA2 ; biolink:category biolink:Gene . OMIM:606006 a owl:Class ; @@ -214398,7 +221878,6 @@ OMIM:606006 a owl:Class ; PMID:12215646, PMID:17553422, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1424728 ; oboInOwl:hasExactSynonym "GGA3", "adp-ribosylation factor-binding protein 3", "arf-binding protein 3", @@ -214406,7 +221885,9 @@ OMIM:606006 a owl:Class ; "kiaa0154" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23163 ; - skos:exactMatch HGNC_symbol:GGA3 ; + skos:exactMatch UMLS:C1424728, + HGNC:17079, + HGNC_symbol:GGA3 ; biolink:category biolink:Gene . OMIM:606007 a owl:Class ; @@ -214415,27 +221896,29 @@ OMIM:606007 a owl:Class ; PMID:9869639 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:619310 ; - oboInOwl:hasDbXref UMLS:C1422418 ; oboInOwl:hasExactSynonym "POLR3K", "RNA polymerase iii, 12.3-kd subunit", "polymerase iii, rna, subunit k", "rpc11, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51728 ; - skos:exactMatch HGNC_symbol:POLR3K ; + skos:exactMatch UMLS:C1422418, + HGNC:14121, + HGNC_symbol:POLR3K ; biolink:category biolink:Gene . OMIM:606008 a owl:Class ; rdfs:label "NKG7" ; IAO:0000142 PMID:7510105, PMID:8458737 ; - oboInOwl:hasDbXref UMLS:C1417733 ; oboInOwl:hasExactSynonym "NKG7", "gcsf-induced gene 1", "natural killer cell group 7 sequence" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4818 ; - skos:exactMatch HGNC_symbol:NKG7 ; + skos:exactMatch UMLS:C1417733, + HGNC:7830, + HGNC_symbol:NKG7 ; biolink:category biolink:Gene . OMIM:606009 a owl:Class ; @@ -214475,37 +221958,40 @@ OMIM:606009 a owl:Class ; PMID:8733043, PMID:8733123, PMID:8968754 ; - oboInOwl:hasDbXref UMLS:C1414197 ; oboInOwl:hasExactSynonym "DUX4", "d4z4 macrosatellite repeat", "double homeobox protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100288687 ; - skos:exactMatch HGNC_symbol:DUX4 ; + skos:exactMatch UMLS:C1414197, + HGNC:50800, + HGNC_symbol:DUX4 ; biolink:category biolink:Gene . OMIM:606010 a owl:Class ; rdfs:label "NRBP1" ; IAO:0000142 PMID:10843813 ; - oboInOwl:hasDbXref UMLS:C1709139 ; oboInOwl:hasExactSynonym "NRBP1", "nuclear receptor-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29959 ; - skos:exactMatch HGNC_symbol:NRBP1 ; + skos:exactMatch UMLS:C1709139, + HGNC:7993, + HGNC_symbol:NRBP1 ; biolink:category biolink:Gene . OMIM:606011 a owl:Class ; rdfs:label "VSIG2" ; IAO:0000142 PMID:9862345 ; - oboInOwl:hasDbXref UMLS:C1538070 ; oboInOwl:hasExactSynonym "VSIG2", "cth", "ctx, xenopus, homolog-like", "v-set and immunoglobulin domains-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23584 ; - skos:exactMatch HGNC_symbol:VSIG2 ; + skos:exactMatch UMLS:C1538070, + HGNC:17149, + HGNC_symbol:VSIG2 ; biolink:category biolink:Gene . OMIM:606013 a owl:Class ; @@ -214519,14 +222005,15 @@ OMIM:606013 a owl:Class ; PMID:17234884, PMID:18385675, PMID:29875408 ; - oboInOwl:hasDbXref UMLS:C1422079 ; oboInOwl:hasExactSynonym "FBXO5", "emi1, xenopus, homolog of", "f-box only protein 5", "fbx5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26271 ; - skos:exactMatch HGNC_symbol:FBXO5 ; + skos:exactMatch UMLS:C1422079, + HGNC:13584, + HGNC_symbol:FBXO5 ; biolink:category biolink:Gene . OMIM:606014 a owl:Class ; @@ -214539,12 +222026,13 @@ OMIM:606014 a owl:Class ; PMID:9676189 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:136760 ; - oboInOwl:hasDbXref UMLS:C1412372 ; oboInOwl:hasExactSynonym "ALX3", "aristaless-like homeobox 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257 ; - skos:exactMatch HGNC_symbol:ALX3 ; + skos:exactMatch UMLS:C1412372, + HGNC:449, + HGNC_symbol:ALX3 ; biolink:category biolink:Gene . OMIM:606015 a owl:Class ; @@ -214553,14 +222041,15 @@ OMIM:606015 a owl:Class ; PMID:20042454, PMID:29461978, PMID:9586636 ; - oboInOwl:hasDbXref UMLS:C1539386 ; oboInOwl:hasExactSynonym "FAIM3", "fas apoptotic inhibitory molecule 3", "fc fragment of igm, receptor for", "toso" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9214 ; - skos:exactMatch HGNC_symbol:FCMR ; + skos:exactMatch UMLS:C1539386, + HGNC:14315, + HGNC_symbol:FCMR ; biolink:category biolink:Gene . OMIM:606016 a owl:Class ; @@ -214574,25 +222063,27 @@ OMIM:606016 a owl:Class ; PMID:30323285, PMID:8590280, PMID:9887101 ; - oboInOwl:hasDbXref UMLS:C1427969 ; oboInOwl:hasExactSynonym "KEAP1", "kelch-like ech-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9817 ; - skos:exactMatch HGNC_symbol:KEAP1 ; + skos:exactMatch UMLS:C1427969, + HGNC:23177, + HGNC_symbol:KEAP1 ; biolink:category biolink:Gene . OMIM:606017 a owl:Class ; rdfs:label "POLR2D" ; IAO:0000142 PMID:9528765 ; - oboInOwl:hasDbXref UMLS:C1418742 ; oboInOwl:hasExactSynonym "POLR2D", "RNA polymerase ii, 16.3-kd subunit", "polymerase ii, rna, subunit d", "rpb4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5433 ; - skos:exactMatch HGNC_symbol:POLR2D ; + skos:exactMatch UMLS:C1418742, + HGNC:9191, + HGNC_symbol:POLR2D ; biolink:category biolink:Gene . OMIM:606018 a owl:Class ; @@ -214602,13 +222093,14 @@ OMIM:606018 a owl:Class ; PMID:12840057, PMID:19008446, PMID:9420328 ; - oboInOwl:hasDbXref UMLS:C1414259 ; oboInOwl:hasExactSynonym "EDIL3", "developmentally regulated endothelial cell locus 1", "egf-like repeats- and discoidin i-like domains-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10085 ; - skos:exactMatch HGNC_symbol:EDIL3 ; + skos:exactMatch UMLS:C1414259, + HGNC:3173, + HGNC_symbol:EDIL3 ; biolink:category biolink:Gene . OMIM:606019 a owl:Class ; @@ -214619,14 +222111,15 @@ OMIM:606019 a owl:Class ; PMID:9466265 ; RO:0002525 CHR:9606chr13q13.3 ; RO:0003303 OMIM:616081 ; - oboInOwl:hasDbXref UMLS:C1424701 ; oboInOwl:hasExactSynonym "EXOSC8", "exosome component 8", "opa-interacting protein 2", "ribosomal rna-processing protein 43, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11340 ; - skos:exactMatch HGNC_symbol:EXOSC8 ; + skos:exactMatch UMLS:C1424701, + HGNC:17035, + HGNC_symbol:EXOSC8 ; biolink:category biolink:Gene . OMIM:606020 a owl:Class ; @@ -214635,7 +222128,6 @@ OMIM:606020 a owl:Class ; PMID:26942680, PMID:28377371, PMID:9466265 ; - oboInOwl:hasDbXref UMLS:C1538530 ; oboInOwl:hasExactSynonym "OIP5", "mis18 kinetochore protein b: mis18b", "mis18, s. pombe, homolog of, B", @@ -214643,7 +222135,9 @@ OMIM:606020 a owl:Class ; "opa-interacting protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11339 ; - skos:exactMatch HGNC_symbol:OIP5 ; + skos:exactMatch UMLS:C1538530, + HGNC:20300, + HGNC_symbol:OIP5 ; biolink:category biolink:Gene . OMIM:606021 a owl:Class ; @@ -214652,41 +222146,44 @@ OMIM:606021 a owl:Class ; PMID:9047241, PMID:9466265, PMID:9753074 ; - oboInOwl:hasDbXref UMLS:C1418865 ; oboInOwl:hasExactSynonym "PRAME", "opa-interacting protein 4", "prame nuclear receptor transcriptional regulator", "preferentially expressed antigen 1n melanoma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23532 ; - skos:exactMatch HGNC_symbol:PRAME ; + skos:exactMatch UMLS:C1418865, + HGNC:9336, + HGNC_symbol:PRAME ; biolink:category biolink:Gene . OMIM:606022 a owl:Class ; rdfs:label "NUDT9" ; IAO:0000142 PMID:11385575 ; - oboInOwl:hasDbXref UMLS:C1417887 ; oboInOwl:hasExactSynonym "NUDT9", "nucleoside diphosphate-linked moiety 10 motif 9", "nudix hydrolase 9", "nudix motif 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53343 ; - skos:exactMatch HGNC_symbol:NUDT9 ; + skos:exactMatch UMLS:C1417887, + HGNC:8056, + HGNC_symbol:NUDT9 ; biolink:category biolink:Gene . OMIM:606023 a owl:Class ; rdfs:label "POLR2H" ; IAO:0000142 PMID:7651387, PMID:8524256 ; - oboInOwl:hasDbXref UMLS:C1418746 ; oboInOwl:hasExactSynonym "POLR2H", "RNA polymerase ii, 17-kd subunit", "polymerase ii, rna, subunit h", "rpb8, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5437 ; - skos:exactMatch HGNC_symbol:POLR2H ; + skos:exactMatch UMLS:C1418746, + HGNC:9195, + HGNC_symbol:POLR2H ; biolink:category biolink:Gene . OMIM:606024 a owl:Class ; @@ -214707,8 +222204,6 @@ OMIM:606025 a owl:Class ; PMID:30256248 ; RO:0002525 CHR:9606chr3q13.31 ; RO:0003303 OMIM:259050 ; - oboInOwl:hasDbXref UMLS:C0796121, - UMLS:C1538150 ; oboInOwl:hasExactSynonym "ZBTB20", "dendritic-derived btb/poz zinc finger", "hof", @@ -214716,7 +222211,10 @@ OMIM:606025 a owl:Class ; "zinc finger- and btb domain-containing protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26137 ; - skos:exactMatch HGNC_symbol:ZBTB20 ; + skos:exactMatch UMLS:C0796121, + UMLS:C1538150, + HGNC:13503, + HGNC_symbol:ZBTB20 ; biolink:category biolink:Gene . OMIM:606026 a owl:Class ; @@ -214727,7 +222225,6 @@ OMIM:606026 a owl:Class ; PMID:12612062, PMID:17499042, PMID:9063753 ; - oboInOwl:hasDbXref UMLS:C1421507 ; oboInOwl:hasExactSynonym "NELFA", "negative elongation factor complex, member a", "negative elongation factor polypeptide a", @@ -214735,7 +222232,9 @@ OMIM:606026 a owl:Class ; "wolf-hirschhorn syndrome candidate 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7469 ; - skos:exactMatch HGNC_symbol:NELFA ; + skos:exactMatch UMLS:C1421507, + HGNC:12768, + HGNC_symbol:NELFA ; biolink:category biolink:Gene . OMIM:606027 a owl:Class ; @@ -214746,14 +222245,15 @@ OMIM:606027 a owl:Class ; PMID:7590244 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:618827 ; - oboInOwl:hasDbXref UMLS:C1413684, - UMLS:C5394215 ; oboInOwl:hasExactSynonym "CPSF1", "cleavage and polyadenylation specificity factor 1", "cleavage-polyadenylation specificity factor, 160-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29894 ; - skos:exactMatch HGNC_symbol:CPSF1 ; + skos:exactMatch UMLS:C1413684, + UMLS:C5394215, + HGNC:2324, + HGNC_symbol:CPSF1 ; biolink:category biolink:Gene . OMIM:606028 a owl:Class ; @@ -214762,13 +222262,14 @@ OMIM:606028 a owl:Class ; PMID:11124543, PMID:7590244, PMID:7969155 ; - oboInOwl:hasDbXref UMLS:C1413685 ; oboInOwl:hasExactSynonym "CPSF2", "cleavage and polyadenylation specificity factor 2", "cleavage-polyadenylation specificity factor, 100-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53981 ; - skos:exactMatch HGNC_symbol:CPSF2 ; + skos:exactMatch UMLS:C1413685, + HGNC:2325, + HGNC_symbol:CPSF2 ; biolink:category biolink:Gene . OMIM:606029 a owl:Class ; @@ -214776,13 +222277,14 @@ OMIM:606029 a owl:Class ; IAO:0000142 PMID:17128255, PMID:18806823, PMID:8929409 ; - oboInOwl:hasDbXref UMLS:C1413686 ; oboInOwl:hasExactSynonym "CPSF3", "cleavage and polyadenylation specificity factor 3", "cleavage-polyadenylation specificity factor, 73-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51692 ; - skos:exactMatch HGNC_symbol:CPSF3 ; + skos:exactMatch UMLS:C1413686, + HGNC:2326, + HGNC_symbol:CPSF3 ; biolink:category biolink:Gene . OMIM:606030 a owl:Class ; @@ -214790,7 +222292,6 @@ OMIM:606030 a owl:Class ; IAO:0000142 PMID:16364915, PMID:7520377, PMID:9067524 ; - oboInOwl:hasDbXref UMLS:C1825026 ; oboInOwl:hasExactSynonym "EDC4", "autoantigen rcd8", "enhancer of mrna decapping 4", @@ -214798,19 +222299,22 @@ OMIM:606030 a owl:Class ; "human enhancer of decapping, large subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23644 ; - skos:exactMatch HGNC_symbol:EDC4 ; + skos:exactMatch UMLS:C1825026, + HGNC:17157, + HGNC_symbol:EDC4 ; biolink:category biolink:Gene . OMIM:606031 a owl:Class ; rdfs:label "WDR6" ; IAO:0000142 PMID:10395803, PMID:10903905 ; - oboInOwl:hasDbXref UMLS:C1421497 ; oboInOwl:hasExactSynonym "WDR6", "wd repeat-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11180 ; - skos:exactMatch HGNC_symbol:WDR6 ; + skos:exactMatch UMLS:C1421497, + HGNC:12758, + HGNC_symbol:WDR6 ; biolink:category biolink:Gene . OMIM:606032 a owl:Class ; @@ -214819,7 +222323,6 @@ OMIM:606032 a owl:Class ; PMID:11004489, PMID:14578391, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1424458 ; oboInOwl:hasExactSynonym "SRRM2", "serine/arginine repetitive matrix protein 2", "serine/arginine-rich splicing factor-related nuclear matrix protein, 300-kd", @@ -214827,20 +222330,23 @@ OMIM:606032 a owl:Class ; "srl300" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23524 ; - skos:exactMatch HGNC_symbol:SRRM2 ; + skos:exactMatch UMLS:C1424458, + HGNC:16639, + HGNC_symbol:SRRM2 ; biolink:category biolink:Gene . OMIM:606033 a owl:Class ; rdfs:label "POLR2K" ; IAO:0000142 PMID:7651387 ; - oboInOwl:hasDbXref UMLS:C1418749 ; oboInOwl:hasExactSynonym "POLR2K", "RNA polymerase ii, 7-kd subunit", "polymerase ii, rna, subunit k", "rpb10-alpha, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5440 ; - skos:exactMatch HGNC_symbol:POLR2K ; + skos:exactMatch UMLS:C1418749, + HGNC:9198, + HGNC_symbol:POLR2K ; biolink:category biolink:Gene . OMIM:606034 a owl:Class ; @@ -214857,8 +222363,6 @@ OMIM:606034 a owl:Class ; PMID:9789007 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:610333 ; - oboInOwl:hasDbXref UMLS:C1425573, - UMLS:C1835912 ; oboInOwl:hasExactSynonym "RNASEH2A", "ribonuclease h2, large subunit", "ribonuclease h2, subunit a", @@ -214866,7 +222370,10 @@ OMIM:606034 a owl:Class ; "rnase hi, large subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10535 ; - skos:exactMatch HGNC_symbol:RNASEH2A ; + skos:exactMatch UMLS:C1425573, + UMLS:C1835912, + HGNC:18518, + HGNC_symbol:RNASEH2A ; biolink:category biolink:Gene . OMIM:606036 a owl:Class ; @@ -214878,13 +222385,14 @@ OMIM:606036 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr15q25.1 ; RO:0003303 OMIM:615926 ; - oboInOwl:hasDbXref UMLS:C1332115, - UMLS:C4014708 ; oboInOwl:hasExactSynonym "ARNT2", "aryl hydrocarbon receptor nuclear translocator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9915 ; - skos:exactMatch HGNC_symbol:ARNT2 ; + skos:exactMatch UMLS:C1332115, + UMLS:C4014708, + HGNC:16876, + HGNC_symbol:ARNT2 ; biolink:category biolink:Gene . OMIM:606037 a owl:Class ; @@ -214895,27 +222403,29 @@ OMIM:606037 a owl:Class ; PMID:17847009 ; RO:0002525 CHR:9606chr3q13.13-q13.2 ; RO:0003303 OMIM:211750 ; - oboInOwl:hasDbXref UMLS:C1424619 ; oboInOwl:hasExactSynonym "CD96", "cd96 antigen", "t-cell activation antigen, increased late expression" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10225 ; - skos:exactMatch HGNC_symbol:CD96 ; + skos:exactMatch UMLS:C1424619, + HGNC:16892, + HGNC_symbol:CD96 ; biolink:category biolink:Gene . OMIM:606038 a owl:Class ; rdfs:label "LY6G6D" ; IAO:0000142 PMID:10384126, PMID:12079290 ; - oboInOwl:hasDbXref UMLS:C1422283 ; oboInOwl:hasExactSynonym "LY6G6D", "g6d", "lymphocyte antigen 6 complex, locus g6d", "megakaryocyte-enhanced gene transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58530 ; - skos:exactMatch HGNC_symbol:LY6G6D ; + skos:exactMatch UMLS:C1422283, + HGNC:13935, + HGNC_symbol:LY6G6D ; biolink:category biolink:Gene . OMIM:606039 a owl:Class ; @@ -214925,7 +222435,6 @@ OMIM:606039 a owl:Class ; PMID:15580557, PMID:19237584, PMID:7505609 ; - oboInOwl:hasDbXref UMLS:C1333902 ; oboInOwl:hasExactSynonym "HCAR3", "chemokine receptor hm74", "g protein-coupled receptor 109b", @@ -214933,42 +222442,47 @@ OMIM:606039 a owl:Class ; "hydroxycarboxylic acid receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8843 ; - skos:exactMatch HGNC_symbol:HCAR3 ; + skos:exactMatch UMLS:C1333902, + HGNC:16824, + HGNC_symbol:HCAR3 ; biolink:category biolink:Gene . OMIM:606040 a owl:Class ; rdfs:label "WDR8" ; IAO:0000142 PMID:10395803, PMID:11401440 ; - oboInOwl:hasDbXref UMLS:C1421498 ; oboInOwl:hasExactSynonym "WDR8", "wd repeat-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:49856 ; - skos:exactMatch HGNC_symbol:WRAP73 ; + skos:exactMatch UMLS:C1421498, + HGNC:12759, + HGNC_symbol:WRAP73 ; biolink:category biolink:Gene . OMIM:606041 a owl:Class ; rdfs:label "SPARCL1" ; IAO:0000142 PMID:7600298 ; - oboInOwl:hasDbXref UMLS:C1420343 ; oboInOwl:hasExactSynonym "SPARCL1", "high endothelial venule protein", "sparc-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8404 ; - skos:exactMatch HGNC_symbol:SPARCL1 ; + skos:exactMatch UMLS:C1420343, + HGNC:11220, + HGNC_symbol:SPARCL1 ; biolink:category biolink:Gene . OMIM:606042 a owl:Class ; rdfs:label "MYNN" ; IAO:0000142 PMID:10873615 ; - oboInOwl:hasDbXref UMLS:C1423084 ; oboInOwl:hasExactSynonym "MYNN", "myoneurin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55892 ; - skos:exactMatch HGNC_symbol:MYNN ; + skos:exactMatch UMLS:C1423084, + HGNC:14955, + HGNC_symbol:MYNN ; biolink:category biolink:Gene . OMIM:606043 a owl:Class ; @@ -214977,27 +222491,29 @@ OMIM:606043 a owl:Class ; PMID:11267678, PMID:14610350, PMID:9460499 ; - oboInOwl:hasDbXref UMLS:C1423527 ; oboInOwl:hasExactSynonym "ZNF331", "rearranged 1n thyroid adenomas", "zinc finger protein 331", "zinc finger protein 463" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55422 ; - skos:exactMatch HGNC_symbol:ZNF331 ; + skos:exactMatch UMLS:C1423527, + HGNC:15489, + HGNC_symbol:ZNF331 ; biolink:category biolink:Gene . OMIM:606044 a owl:Class ; rdfs:label "ZNRD2" ; IAO:0000142 PMID:9486406 ; - oboInOwl:hasDbXref UMLS:C1420433 ; oboInOwl:hasExactSynonym "ZNRD2", "centromeric autoantigen, 27-kd", "sjogren syndrome/scleroderma autoantigen 1", "zinc ribbon domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10534 ; - skos:exactMatch HGNC_symbol:ZNRD2 ; + skos:exactMatch UMLS:C1420433, + HGNC:11328, + HGNC_symbol:ZNRD2 ; biolink:category biolink:Gene . OMIM:606045 a owl:Class ; @@ -215013,26 +222529,28 @@ OMIM:606045 a owl:Class ; PMID:29220510 ; RO:0002525 CHR:9606chr3q21.3-q22.1 ; RO:0003303 OMIM:218330 ; - oboInOwl:hasDbXref UMLS:C0432235, - UMLS:C1825573 ; oboInOwl:hasExactSynonym "IFT122", "intraflagellar transport 122", "intraflagellar transport 122, chlamydomonas, homolog of", "wd repeat-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55764 ; - skos:exactMatch HGNC_symbol:IFT122 ; + skos:exactMatch UMLS:C0432235, + UMLS:C1825573, + HGNC:13556, + HGNC_symbol:IFT122 ; biolink:category biolink:Gene . OMIM:606046 a owl:Class ; rdfs:label "STX18" ; IAO:0000142 PMID:10788491 ; - oboInOwl:hasDbXref UMLS:C1423847 ; oboInOwl:hasExactSynonym "STX18", "syntaxin 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53407 ; - skos:exactMatch HGNC_symbol:STX18 ; + skos:exactMatch UMLS:C1423847, + HGNC:15942, + HGNC_symbol:STX18 ; biolink:category biolink:Gene . OMIM:606047 a owl:Class ; @@ -215040,7 +222558,6 @@ OMIM:606047 a owl:Class ; IAO:0000142 PMID:10941842, PMID:12393390, PMID:2201309 ; - oboInOwl:hasDbXref UMLS:C1825813 ; oboInOwl:hasExactSynonym "LILRA5", "cd85f", "immunoglobulin-like transcript 11", @@ -215048,7 +222565,9 @@ OMIM:606047 a owl:Class ; "leukocyte immunoglobulin-like receptor, subfamily a, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353514 ; - skos:exactMatch HGNC_symbol:LILRA5 ; + skos:exactMatch UMLS:C1825813, + HGNC:16309, + HGNC_symbol:LILRA5 ; biolink:category biolink:Gene . OMIM:606048 a owl:Class ; @@ -215059,7 +222578,6 @@ OMIM:606048 a owl:Class ; PMID:8702217 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:617188 ; - oboInOwl:hasDbXref UMLS:C1423536 ; oboInOwl:hasExactSynonym "MBOAT7", "breast and bladder cancer overexpressed gene 1", "leukocyte receptor cluster gene 4", @@ -215068,7 +222586,9 @@ OMIM:606048 a owl:Class ; "membrane-bound o-acetyltransferase domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79143 ; - skos:exactMatch HGNC_symbol:MBOAT7 ; + skos:exactMatch UMLS:C1423536, + HGNC:15505, + HGNC_symbol:MBOAT7 ; biolink:category biolink:Gene . OMIM:606050 a owl:Class ; @@ -215078,14 +222598,15 @@ OMIM:606050 a owl:Class ; PMID:27354218, PMID:8662070, PMID:9368598 ; - oboInOwl:hasDbXref UMLS:C1425779 ; oboInOwl:hasExactSynonym "UBD", "diubiquitin", "fat10", "ubiquitin d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10537 ; - skos:exactMatch HGNC_symbol:UBD ; + skos:exactMatch UMLS:C1425779, + HGNC:18795, + HGNC_symbol:UBD ; biolink:category biolink:Gene . OMIM:606051 a owl:Class ; @@ -215093,13 +222614,14 @@ OMIM:606051 a owl:Class ; IAO:0000142 PMID:10571079, PMID:12459492, PMID:14980502 ; - oboInOwl:hasDbXref UMLS:C1822678 ; oboInOwl:hasExactSynonym "SERGEF", "deafness locus-associated putative guanine nucleotide exchange factor", "secretion-regulating guanine nucleotide exchange factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26297 ; - skos:exactMatch HGNC_symbol:SERGEF ; + skos:exactMatch UMLS:C1822678, + HGNC:17499, + HGNC_symbol:SERGEF ; biolink:category biolink:Gene . OMIM:606052 a owl:Class ; @@ -215110,13 +222632,14 @@ OMIM:606055 a owl:Class ; rdfs:label "PCTP" ; IAO:0000142 PMID:10500206, PMID:10542325 ; - oboInOwl:hasDbXref UMLS:C1418395 ; oboInOwl:hasExactSynonym "PCTP", "phosphatidylcholine transfer protein", "start domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58488 ; - skos:exactMatch HGNC_symbol:PCTP ; + skos:exactMatch UMLS:C1418395, + HGNC:8752, + HGNC_symbol:PCTP ; biolink:category biolink:Gene . OMIM:606057 a owl:Class ; @@ -215124,7 +222647,6 @@ OMIM:606057 a owl:Class ; IAO:0000142 PMID:16177794, PMID:9853756, PMID:9856955 ; - oboInOwl:hasDbXref UMLS:C1424450 ; oboInOwl:hasExactSynonym "RAPGEF3", "camp-gefi", "camp-regulated guanine nucleotide exchange factor 1", @@ -215133,7 +222655,9 @@ OMIM:606057 a owl:Class ; "rap guanine nucleotide exchange factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10411 ; - skos:exactMatch HGNC_symbol:RAPGEF3 ; + skos:exactMatch UMLS:C1424450, + HGNC:16629, + HGNC_symbol:RAPGEF3 ; biolink:category biolink:Gene . OMIM:606058 a owl:Class ; @@ -215143,7 +222667,6 @@ OMIM:606058 a owl:Class ; PMID:18660803, PMID:19644119, PMID:9856955 ; - oboInOwl:hasDbXref UMLS:C1424447 ; oboInOwl:hasExactSynonym "RAPGEF4", "camp-gefii", "camp-regulated guanine nucleotide exchange factor 2", @@ -215151,18 +222674,21 @@ OMIM:606058 a owl:Class ; "rap guanine nucleotide exchange factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11069 ; - skos:exactMatch HGNC_symbol:RAPGEF4 ; + skos:exactMatch UMLS:C1424447, + HGNC:16626, + HGNC_symbol:RAPGEF4 ; biolink:category biolink:Gene . OMIM:606059 a owl:Class ; rdfs:label "PKIA" ; IAO:0000142 PMID:1770951 ; - oboInOwl:hasDbXref UMLS:C1418606 ; oboInOwl:hasExactSynonym "PKIA", "protein kinase, camp-dependent catalytic, inhibitor alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5569 ; - skos:exactMatch HGNC_symbol:PKIA ; + skos:exactMatch UMLS:C1418606, + HGNC:9017, + HGNC_symbol:PKIA ; biolink:category biolink:Gene . OMIM:606060 a owl:Class ; @@ -215176,13 +222702,14 @@ OMIM:606060 a owl:Class ; PMID:9159748 ; RO:0002525 CHR:9606chr10q21.3 ; RO:0003303 OMIM:617384 ; - oboInOwl:hasDbXref UMLS:C1539297 ; oboInOwl:hasExactSynonym "DNAJC12", "dnaj/hsp40 homolog, subfamily c, member 12", "j domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56521 ; - skos:exactMatch HGNC_symbol:DNAJC12 ; + skos:exactMatch UMLS:C1539297, + HGNC:28908, + HGNC_symbol:DNAJC12 ; biolink:category biolink:Gene . OMIM:606061 a owl:Class ; @@ -215197,14 +222724,15 @@ OMIM:606061 a owl:Class ; PMID:22328084 ; RO:0002525 CHR:9606chr7p14.2 ; RO:0003303 OMIM:611363 ; - oboInOwl:hasDbXref UMLS:C1420609, - UMLS:C1969657 ; oboInOwl:hasExactSynonym "TBX20", "t-box 20", "t-box transcription factor 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57057 ; - skos:exactMatch HGNC_symbol:TBX20 ; + skos:exactMatch UMLS:C1420609, + UMLS:C1969657, + HGNC:11598, + HGNC_symbol:TBX20 ; biolink:category biolink:Gene . OMIM:606062 a owl:Class ; @@ -215229,9 +222757,6 @@ OMIM:606062 a owl:Class ; PMID:9506951 ; RO:0002525 CHR:9606chr10q25.2 ; RO:0003303 OMIM:610759 ; - oboInOwl:hasDbXref UMLS:C1822780, - UMLS:C1853099, - UMLS:C5394608 ; oboInOwl:hasExactSynonym "SMC3", "bamacan", "chondroitin sulfate proteoglycan 6", @@ -215239,7 +222764,11 @@ OMIM:606062 a owl:Class ; "structural maintenance of chromosomes 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9126 ; - skos:exactMatch HGNC_symbol:SMC3 ; + skos:exactMatch UMLS:C1822780, + UMLS:C1853099, + UMLS:C5394608, + HGNC:2468, + HGNC_symbol:SMC3 ; biolink:category biolink:Gene . OMIM:606063 a owl:Class ; @@ -215258,14 +222787,15 @@ OMIM:606063 a owl:Class ; PMID:9685493, PMID:9788596, PMID:9823303 ; - oboInOwl:hasDbXref UMLS:C1333365 ; oboInOwl:hasExactSynonym "EXO1", "exonuclease 1", "exonuclease 1, s. cerevisiae, homolog of", "hex1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9156 ; - skos:exactMatch HGNC_symbol:EXO1 ; + skos:exactMatch UMLS:C1333365, + HGNC:3511, + HGNC_symbol:EXO1 ; biolink:category biolink:Gene . OMIM:606064 a owl:Class ; @@ -215274,14 +222804,15 @@ OMIM:606064 a owl:Class ; PMID:11084048, PMID:11559528, PMID:16492758 ; - oboInOwl:hasDbXref UMLS:C1540291 ; oboInOwl:hasExactSynonym "CD248", "cd248 antigen", "endosialin", "tumor endothelial marker 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57124 ; - skos:exactMatch HGNC_symbol:CD248 ; + skos:exactMatch UMLS:C1540291, + HGNC:18219, + HGNC_symbol:CD248 ; biolink:category biolink:Gene . OMIM:606065 a owl:Class ; @@ -215290,14 +222821,15 @@ OMIM:606065 a owl:Class ; PMID:10734104, PMID:10767544, PMID:32289156 ; - oboInOwl:hasDbXref UMLS:C1332704 ; oboInOwl:hasExactSynonym "ACKR4", "atypical chemokine receptor 4", "chemokine, cc motif, receptor-like protein 1", "ppr1, bovine, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51554 ; - skos:exactMatch HGNC_symbol:ACKR4 ; + skos:exactMatch UMLS:C1332704, + HGNC:1611, + HGNC_symbol:ACKR4 ; biolink:category biolink:Gene . OMIM:606066 a owl:Class ; @@ -215308,12 +222840,13 @@ OMIM:606066 a owl:Class ; PMID:11397841, PMID:12130543, PMID:9880598 ; - oboInOwl:hasDbXref UMLS:C1422495 ; oboInOwl:hasExactSynonym "LHX9", "lim homeobox gene 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56956 ; - skos:exactMatch HGNC_symbol:LHX9 ; + skos:exactMatch UMLS:C1422495, + HGNC:14222, + HGNC_symbol:LHX9 ; biolink:category biolink:Gene . OMIM:606067 a owl:Class ; @@ -215321,12 +222854,13 @@ OMIM:606067 a owl:Class ; IAO:0000142 PMID:10873378, PMID:10998416, PMID:11161796 ; - oboInOwl:hasDbXref UMLS:C1418197 ; oboInOwl:hasExactSynonym "OTOR", "otoraplin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56914 ; - skos:exactMatch HGNC_symbol:OTOR ; + skos:exactMatch UMLS:C1418197, + HGNC:8517, + HGNC_symbol:OTOR ; biolink:category biolink:Gene . OMIM:606071 a owl:Class ; @@ -215344,13 +222878,13 @@ OMIM:606071 a owl:Class ; PMID:22065612, PMID:22675077, PMID:8179305 ; - oboInOwl:hasDbXref UMLS:C1853710 ; oboInOwl:hasExactSynonym "HMSN2C", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2c", "charcot-marie-tooth neuropathy, iia 2c", "hereditary motor and sensory neuropathy, iia 2c", "hmsn 2c" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1853710 ; biolink:category biolink:Disease . OMIM:606073 a owl:Class ; @@ -215358,14 +222892,15 @@ OMIM:606073 a owl:Class ; IAO:0000142 PMID:10625700, PMID:12871939, PMID:16140270 ; - oboInOwl:hasDbXref UMLS:C1538051 ; oboInOwl:hasExactSynonym "NDOR1", "nadph-dependent diflavin oxidoreductase 1", "nadph-dependent fmn- and fad-containing oxidoreductase", "nr1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27158 ; - skos:exactMatch HGNC_symbol:NDOR1 ; + skos:exactMatch UMLS:C1538051, + HGNC:29838, + HGNC_symbol:NDOR1 ; biolink:category biolink:Gene . OMIM:606074 a owl:Class ; @@ -215373,13 +222908,14 @@ OMIM:606074 a owl:Class ; IAO:0000142 PMID:10506200, PMID:19218399, PMID:8855242 ; - oboInOwl:hasDbXref UMLS:C1539554 ; oboInOwl:hasExactSynonym "GBGT1", "forssman synthetase", "globoside alpha-1,3-n-acetylgalactosaminyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26301 ; - skos:exactMatch HGNC_symbol:GBGT1 ; + skos:exactMatch UMLS:C1539554, + HGNC:20460, + HGNC_symbol:GBGT1 ; biolink:category biolink:Gene . OMIM:606075 a owl:Class ; @@ -215408,11 +222944,6 @@ OMIM:606075 a owl:Class ; PMID:30496414 ; RO:0002525 CHR:9606chr10q24.31 ; RO:0003303 OMIM:609286 ; - oboInOwl:hasDbXref UMLS:C1418458, - UMLS:C1836439, - UMLS:C1849096, - UMLS:C1868097, - UMLS:C4015307 ; oboInOwl:hasExactSynonym "TWNK", "chromosome 10 open reading frame 2", "p72", @@ -215421,20 +222952,27 @@ OMIM:606075 a owl:Class ; "twinky" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56652 ; - skos:exactMatch HGNC_symbol:TWNK ; + skos:exactMatch UMLS:C1418458, + UMLS:C1836439, + UMLS:C1849096, + UMLS:C1868097, + UMLS:C4015307, + HGNC:1160, + HGNC_symbol:TWNK ; biolink:category biolink:Gene . OMIM:606076 a owl:Class ; rdfs:label "PIK3R3" ; IAO:0000142 PMID:9524259 ; - oboInOwl:hasDbXref UMLS:C1335215 ; oboInOwl:hasExactSynonym "PIK3R3", "p55-gamma", "phosphatidylinositol 3-kinase, regulatory subunit 3", "phosphatidylinositol 3-kinase, regulatory subunit, 55-kd, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8503 ; - skos:exactMatch HGNC_symbol:PIK3R3 ; + skos:exactMatch UMLS:C1335215, + HGNC:8981, + HGNC_symbol:PIK3R3 ; biolink:category biolink:Gene . OMIM:606077 a owl:Class ; @@ -215447,8 +222985,6 @@ OMIM:606077 a owl:Class ; PMID:24100041, PMID:27602518 ; RO:0002525 CHR:9606chr1p13.3 ; - oboInOwl:hasDbXref UMLS:C1423088, - UMLS:C3888092 ; oboInOwl:hasExactSynonym "RBM15", "one-twenty two protein 1", "ott", @@ -215456,21 +222992,25 @@ OMIM:606077 a owl:Class ; "rna-binding motif protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64783 ; - skos:exactMatch HGNC_symbol:RBM15 ; + skos:exactMatch UMLS:C1423088, + UMLS:C3888092, + HGNC:14959, + HGNC_symbol:RBM15 ; biolink:category biolink:Gene . OMIM:606079 a owl:Class ; rdfs:label "CD163L1" ; IAO:0000142 PMID:11086079, PMID:11124526 ; - oboInOwl:hasDbXref UMLS:C1824673 ; oboInOwl:hasExactSynonym "CD163L1", "cd163 antigen B", "cd163 antigen-like 1", "scavenger receptor m160" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283316 ; - skos:exactMatch HGNC_symbol:CD163L1 ; + skos:exactMatch UMLS:C1824673, + HGNC:30375, + HGNC_symbol:CD163L1 ; biolink:category biolink:Gene . OMIM:606080 a owl:Class ; @@ -215479,13 +223019,14 @@ OMIM:606080 a owl:Class ; PMID:11085997, PMID:15192232, PMID:17450126 ; - oboInOwl:hasDbXref UMLS:C1824735 ; oboInOwl:hasExactSynonym "CHIA", "acidic mammalian chitinase", "chitinase, acidic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27159 ; - skos:exactMatch HGNC_symbol:CHIA ; + skos:exactMatch UMLS:C1824735, + HGNC:17432, + HGNC_symbol:CHIA ; biolink:category biolink:Gene . OMIM:606081 a owl:Class ; @@ -215495,15 +223036,16 @@ OMIM:606081 a owl:Class ; PMID:31907385, PMID:32356556, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1420857, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "TOMM70", "kiaa0719", "translocase of outer mitochondrial membrane 70", "translocase of outer mitochondrial membrane 70, yeast, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9868 ; - skos:exactMatch HGNC_symbol:TOMM70 ; + skos:exactMatch UMLS:C1420857, + UMLS:C2986382, + HGNC:11985, + HGNC_symbol:TOMM70 ; biolink:category biolink:Gene . OMIM:606083 a owl:Class ; @@ -215517,7 +223059,6 @@ OMIM:606083 a owl:Class ; PMID:29301960 ; RO:0002525 CHR:9606chr3p21.1 ; RO:0003303 OMIM:144700 ; - oboInOwl:hasDbXref UMLS:C1853685 ; oboInOwl:hasExactSynonym "PBRM1", "brg1-associated factor, 180-kd", "pb1", @@ -215525,7 +223066,9 @@ OMIM:606083 a owl:Class ; "polybromo 1, chicken, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55193 ; - skos:exactMatch HGNC_symbol:PBRM1 ; + skos:exactMatch UMLS:C1853685, + HGNC:30064, + HGNC_symbol:PBRM1 ; biolink:category biolink:Gene . OMIM:606084 a owl:Class ; @@ -215533,27 +223076,29 @@ OMIM:606084 a owl:Class ; IAO:0000142 PMID:10430899, PMID:1629197, PMID:7493928 ; - oboInOwl:hasDbXref UMLS:C1424686 ; oboInOwl:hasExactSynonym "CDC42EP1", "bone marrow stromal/endothelial cell protein, 55-kd", "cdc42 effector protein 1", "cep1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11135 ; - skos:exactMatch HGNC_symbol:CDC42EP1 ; + skos:exactMatch UMLS:C1424686, + HGNC:17014, + HGNC_symbol:CDC42EP1 ; biolink:category biolink:Gene . OMIM:606085 a owl:Class ; rdfs:label "TES" ; IAO:0000142 PMID:10950921, PMID:11420696 ; - oboInOwl:hasDbXref UMLS:C1422793 ; oboInOwl:hasExactSynonym "TES", "testin", "testis-derived transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26136 ; - skos:exactMatch HGNC_symbol:TES ; + skos:exactMatch UMLS:C1422793, + HGNC:14620, + HGNC_symbol:TES ; biolink:category biolink:Gene . OMIM:606086 a owl:Class ; @@ -215562,39 +223107,42 @@ OMIM:606086 a owl:Class ; PMID:10432305, PMID:31534220, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1429001 ; oboInOwl:hasExactSynonym "EIF5B", "eukaryotic translation initiation factor 5b", "translation initiation factor if2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9669 ; - skos:exactMatch HGNC_symbol:EIF5B ; + skos:exactMatch UMLS:C1429001, + HGNC:30793, + HGNC_symbol:EIF5B ; biolink:category biolink:Gene . OMIM:606087 a owl:Class ; rdfs:label "SYNM" ; IAO:0000142 PMID:11353857, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1428377 ; oboInOwl:hasExactSynonym "SYNM", "desmuslin", "synemin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23336 ; - skos:exactMatch HGNC_symbol:SYNM ; + skos:exactMatch UMLS:C1428377, + HGNC:24466, + HGNC_symbol:SYNM ; biolink:category biolink:Gene . OMIM:606088 a owl:Class ; rdfs:label "PLA2G4B" ; IAO:0000142 PMID:10085124 ; - oboInOwl:hasDbXref UMLS:C1418621 ; oboInOwl:hasExactSynonym "PLA2G4B", "cpla2-beta", "phospholipase a2, cytosolic, calcium-dependent, beta", "phospholipase a2, group 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100137049 ; - skos:exactMatch HGNC_symbol:PLA2G4B ; + skos:exactMatch UMLS:C1418621, + HGNC:9036, + HGNC_symbol:PLA2G4B ; biolink:category biolink:Gene . OMIM:606089 a owl:Class ; @@ -215607,27 +223155,29 @@ OMIM:606089 a owl:Class ; PMID:8265590, PMID:9286715, PMID:9858834 ; - oboInOwl:hasDbXref UMLS:C1412778 ; oboInOwl:hasExactSynonym "BCYRN1", "bc200 RNA", "bc200-alpha", "brain cytoplasmic RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:618 ; - skos:exactMatch HGNC_symbol:BCYRN1 ; + skos:exactMatch UMLS:C1412778, + HGNC:1022, + HGNC_symbol:BCYRN1 ; biolink:category biolink:Gene . OMIM:606090 a owl:Class ; rdfs:label "CROT" ; IAO:0000142 PMID:10486279, PMID:11001805 ; - oboInOwl:hasDbXref UMLS:C1413715 ; oboInOwl:hasExactSynonym "CROT", "carnitine octanoyltransferase", "cot" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54677 ; - skos:exactMatch HGNC_symbol:CROT ; + skos:exactMatch UMLS:C1413715, + HGNC:2366, + HGNC_symbol:CROT ; biolink:category biolink:Gene . OMIM:606091 a owl:Class ; @@ -215636,12 +223186,13 @@ OMIM:606091 a owl:Class ; PMID:11358961, PMID:11409878, PMID:19264983 ; - oboInOwl:hasDbXref UMLS:C1423625 ; oboInOwl:hasExactSynonym "SIGLEC10", "sialic acid-binding immunoglobulin-like lectin 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89790 ; - skos:exactMatch HGNC_symbol:SIGLEC10 ; + skos:exactMatch UMLS:C1423625, + HGNC:15620, + HGNC_symbol:SIGLEC10 ; biolink:category biolink:Gene . OMIM:606092 a owl:Class ; @@ -215650,27 +223201,29 @@ OMIM:606092 a owl:Class ; PMID:12768437, PMID:1679318, PMID:9644977 ; - oboInOwl:hasDbXref UMLS:C1428391 ; oboInOwl:hasExactSynonym "DNAJC14", "dnaj/hsp40 homolog, subfamily c, member 14", "dopamine receptor-interacting protein, 78-kd", "heat-shock protein, dnaj-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85406 ; - skos:exactMatch HGNC_symbol:DNAJC14 ; + skos:exactMatch UMLS:C1428391, + HGNC:24581, + HGNC_symbol:DNAJC14 ; biolink:category biolink:Gene . OMIM:606093 a owl:Class ; rdfs:label "PPIG" ; IAO:0000142 PMID:8973360, PMID:9153302 ; - oboInOwl:hasDbXref UMLS:C1422813 ; oboInOwl:hasExactSynonym "PPIG", "cyclophilin g", "peptidyl-prolyl isomerase g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9360 ; - skos:exactMatch HGNC_symbol:PPIG ; + skos:exactMatch UMLS:C1422813, + HGNC:14650, + HGNC_symbol:PPIG ; biolink:category biolink:Gene . OMIM:606094 a owl:Class ; @@ -215679,7 +223232,6 @@ OMIM:606094 a owl:Class ; PMID:11409877, PMID:11546777, PMID:21555517 ; - oboInOwl:hasDbXref UMLS:C1539771 ; oboInOwl:hasExactSynonym "SIGLEC12", "s2v", "sialic acid-binding immunoglobulin-like lectin 12", @@ -215687,7 +223239,9 @@ OMIM:606094 a owl:Class ; "siglec-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89858 ; - skos:exactMatch HGNC_symbol:SIGLEC12 ; + skos:exactMatch UMLS:C1539771, + HGNC:15482, + HGNC_symbol:SIGLEC12 ; biolink:category biolink:Gene . OMIM:606095 a owl:Class ; @@ -215695,25 +223249,27 @@ OMIM:606095 a owl:Class ; IAO:0000142 PMID:10713041, PMID:9404889, PMID:9570313 ; - oboInOwl:hasDbXref UMLS:C1422814 ; oboInOwl:hasExactSynonym "PPIH", "cyclophilin h", "peptidyl-prolyl isomerase h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10465 ; - skos:exactMatch HGNC_symbol:PPIH ; + skos:exactMatch UMLS:C1422814, + HGNC:14651, + HGNC_symbol:PPIH ; biolink:category biolink:Gene . OMIM:606096 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:11283015 ; - oboInOwl:hasDbXref UMLS:C1423730 ; oboInOwl:hasExactSynonym "galectin 12", "lectin, galactoside-binding, soluble, 12", "lgals12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85329 ; - skos:exactMatch HGNC_symbol:LGALS12 ; + skos:exactMatch UMLS:C1423730, + HGNC:15788, + HGNC_symbol:LGALS12 ; biolink:category biolink:Gene . OMIM:606097 a owl:Class ; @@ -215729,24 +223285,26 @@ OMIM:606097 a owl:Class ; PMID:27038415 ; RO:0002525 CHR:9606chr18q21.33 ; RO:0003303 OMIM:614080 ; - oboInOwl:hasDbXref UMLS:C1418568 ; oboInOwl:hasExactSynonym "PIGN", "phosphatidylinositol glycan anchor biosynthesis class n protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23556 ; - skos:exactMatch HGNC_symbol:PIGN ; + skos:exactMatch UMLS:C1418568, + HGNC:8967, + HGNC_symbol:PIGN ; biolink:category biolink:Gene . OMIM:606098 a owl:Class ; rdfs:label "SNX6" ; IAO:0000142 PMID:11279102, PMID:20133524 ; - oboInOwl:hasDbXref UMLS:C1423097 ; oboInOwl:hasExactSynonym "SNX6", "sorting nexin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58533 ; - skos:exactMatch HGNC_symbol:SNX6 ; + skos:exactMatch UMLS:C1423097, + HGNC:14970, + HGNC_symbol:SNX6 ; biolink:category biolink:Gene . OMIM:606099 a owl:Class ; @@ -215757,14 +223315,15 @@ OMIM:606099 a owl:Class ; PMID:28077878, PMID:7852431, PMID:8692978 ; - oboInOwl:hasDbXref UMLS:C1334336 ; oboInOwl:hasExactSynonym "LGALS8", "galectin 8", "lectin, galactoside-binding, soluble, 8", "prostate carcinoma tumor antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3964 ; - skos:exactMatch HGNC_symbol:LGALS8 ; + skos:exactMatch UMLS:C1334336, + HGNC:6569, + HGNC_symbol:LGALS8 ; biolink:category biolink:Gene . OMIM:606100 a owl:Class ; @@ -215777,25 +223336,27 @@ OMIM:606100 a owl:Class ; PMID:7294069 ; RO:0002525 CHR:9606chr19p13.12 ; RO:0003303 OMIM:125630 ; - oboInOwl:hasDbXref UMLS:C1414391 ; oboInOwl:hasExactSynonym "ADGRE2", "adhesion g protein-coupled receptor e2", "egf-like module-containing, mucin-like hormone receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30817 ; - skos:exactMatch HGNC_symbol:ADGRE2 ; + skos:exactMatch UMLS:C1414391, + HGNC:3337, + HGNC_symbol:ADGRE2 ; biolink:category biolink:Gene . OMIM:606101 a owl:Class ; rdfs:label "ADGRE3" ; IAO:0000142 PMID:11279179 ; - oboInOwl:hasDbXref UMLS:C1428181 ; oboInOwl:hasExactSynonym "ADGRE3", "adhesion g protein-coupled receptor e3", "egf-like module-containing, mucin-like hormone receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84658 ; - skos:exactMatch HGNC_symbol:ADGRE3 ; + skos:exactMatch UMLS:C1428181, + HGNC:23647, + HGNC_symbol:ADGRE3 ; biolink:category biolink:Gene . OMIM:606102 a owl:Class ; @@ -215811,13 +223372,14 @@ OMIM:606102 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:611369 ; - oboInOwl:hasDbXref UMLS:C1418590 ; oboInOwl:hasExactSynonym "PIP5K1C", "phosphatidylinositol 4-phosphate 5-kinase, iia i, gamma", "pip5k1-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23396 ; - skos:exactMatch HGNC_symbol:PIP5K1C ; + skos:exactMatch UMLS:C1418590, + HGNC:8996, + HGNC_symbol:PIP5K1C ; biolink:category biolink:Gene . OMIM:606103 a owl:Class ; @@ -215828,7 +223390,6 @@ OMIM:606103 a owl:Class ; PMID:7938006, PMID:8958327, PMID:9926927 ; - oboInOwl:hasDbXref UMLS:C1427633 ; oboInOwl:hasExactSynonym "SESN1", "p53-activated gene 26", "pa26", @@ -215836,7 +223397,9 @@ OMIM:606103 a owl:Class ; "sestrin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27244 ; - skos:exactMatch HGNC_symbol:SESN1 ; + skos:exactMatch UMLS:C1427633, + HGNC:21595, + HGNC_symbol:SESN1 ; biolink:category biolink:Gene . OMIM:606104 a owl:Class ; @@ -215851,28 +223414,30 @@ OMIM:606105 a owl:Class ; PMID:31855247 ; RO:0002525 CHR:9606chr9q31.1-q31.2 ; RO:0003303 OMIM:618868 ; - oboInOwl:hasDbXref UMLS:C1822758, - UMLS:C5394335 ; oboInOwl:hasExactSynonym "SLC44A1", "cdw92", "choline transporter-like protein 1", "solute carrier family 44, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23446 ; - skos:exactMatch HGNC_symbol:SLC44A1 ; + skos:exactMatch UMLS:C1822758, + UMLS:C5394335, + HGNC:18798, + HGNC_symbol:SLC44A1 ; biolink:category biolink:Gene . OMIM:606106 a owl:Class ; rdfs:label "SLC44A2" ; IAO:0000142 PMID:10677542, PMID:20037594 ; - oboInOwl:hasDbXref UMLS:C1822759 ; oboInOwl:hasExactSynonym "SLC44A2", "choline transporter-like protein 2", "solute carrier family 44, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57153 ; - skos:exactMatch HGNC_symbol:SLC44A2 ; + skos:exactMatch UMLS:C1822759, + HGNC:17292, + HGNC_symbol:SLC44A2 ; biolink:category biolink:Gene . OMIM:606107 a owl:Class ; @@ -215883,7 +223448,6 @@ OMIM:606107 a owl:Class ; PMID:28013291 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:617606 ; - oboInOwl:hasDbXref UMLS:C1822761 ; oboInOwl:hasExactSynonym "SLC44A4", "choline transporter-like protein 4", "chromosome 6 open reading frame 29", @@ -215892,7 +223456,9 @@ OMIM:606107 a owl:Class ; "tpp transporter" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80736 ; - skos:exactMatch HGNC_symbol:SLC44A4 ; + skos:exactMatch UMLS:C1822761, + HGNC:13941, + HGNC_symbol:SLC44A4 ; biolink:category biolink:Gene . OMIM:606108 a owl:Class ; @@ -215901,7 +223467,6 @@ OMIM:606108 a owl:Class ; PMID:16751101, PMID:9003755, PMID:9707433 ; - oboInOwl:hasDbXref UMLS:C1418814 ; oboInOwl:hasExactSynonym "PPM1A", "pp2c-alpha", "protein phosphatase 2c, alpha isoform", @@ -215910,19 +223475,22 @@ OMIM:606108 a owl:Class ; "protein phosphatase, magnesium/manganese-dependent, 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5494 ; - skos:exactMatch HGNC_symbol:PPM1A ; + skos:exactMatch UMLS:C1418814, + HGNC:9275, + HGNC_symbol:PPM1A ; biolink:category biolink:Gene . OMIM:606109 a owl:Class ; rdfs:label "NUDCD1" ; IAO:0000142 PMID:11416219 ; - oboInOwl:hasDbXref UMLS:C1538496 ; oboInOwl:hasExactSynonym "NUDCD1", "immunogenic tumor antigen cml66", "nudc domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84955 ; - skos:exactMatch HGNC_symbol:NUDCD1 ; + skos:exactMatch UMLS:C1538496, + HGNC:24306, + HGNC_symbol:NUDCD1 ; biolink:category biolink:Gene . OMIM:606110 a owl:Class ; @@ -215932,14 +223500,15 @@ OMIM:606110 a owl:Class ; PMID:15620360, PMID:16950157, PMID:21071629 ; - oboInOwl:hasDbXref UMLS:C1537627 ; oboInOwl:hasExactSynonym "LYNX1", "ly6/neurotoxin 1", "secreted ly6/plaur domain-containing protein 2", "secreted ly6/upar-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:66004 ; - skos:exactMatch HGNC_symbol:LYNX1 ; + skos:exactMatch UMLS:C1537627, + HGNC:29604, + HGNC_symbol:LYNX1 ; biolink:category biolink:Gene . OMIM:606111 a owl:Class ; @@ -215949,7 +223518,6 @@ OMIM:606111 a owl:Class ; PMID:11355873, PMID:11404457, PMID:11416225 ; - oboInOwl:hasDbXref UMLS:C1825953 ; oboInOwl:hasExactSynonym "MCHR2", "mch2", "mch2r", @@ -215957,20 +223525,23 @@ OMIM:606111 a owl:Class ; "slt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84539 ; - skos:exactMatch HGNC_symbol:MCHR2 ; + skos:exactMatch UMLS:C1825953, + HGNC:20867, + HGNC_symbol:MCHR2 ; biolink:category biolink:Gene . OMIM:606112 a owl:Class ; rdfs:label "RPP14" ; IAO:0000142 PMID:10024167, PMID:9630247 ; - oboInOwl:hasDbXref UMLS:C1428962 ; oboInOwl:hasExactSynonym "RPP14", "ribonuclease p, 14-kd subunit", "ribonuclease p/mrp subunit p14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11102 ; - skos:exactMatch HGNC_symbol:RPP14 ; + skos:exactMatch UMLS:C1428962, + HGNC:30327, + HGNC_symbol:RPP14 ; biolink:category biolink:Gene . OMIM:606113 a owl:Class ; @@ -215980,14 +223551,15 @@ OMIM:606113 a owl:Class ; PMID:29625199, PMID:30454648, PMID:9630247 ; - oboInOwl:hasDbXref UMLS:C1426553 ; oboInOwl:hasExactSynonym "POP7", "pop7 homolog, ribonuclease p/mrp subunit", "processing of precursor 7, s. cerevisiae, homolog of", "ribonuclease p, 20-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10248 ; - skos:exactMatch HGNC_symbol:POP7 ; + skos:exactMatch UMLS:C1426553, + HGNC:19949, + HGNC_symbol:POP7 ; biolink:category biolink:Gene . OMIM:606114 a owl:Class ; @@ -215995,7 +223567,6 @@ OMIM:606114 a owl:Class ; IAO:0000142 PMID:10024167, PMID:10352175, PMID:9630247 ; - oboInOwl:hasDbXref UMLS:C1428930 ; oboInOwl:hasExactSynonym "POP4", "pop4 homolog, ribonuclease p/mrp subunit", "processing of precursor 4, s. cerevisiae, homolog of", @@ -216003,7 +223574,9 @@ OMIM:606114 a owl:Class ; "ribonuclease p/mrp subunit, 29-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10775 ; - skos:exactMatch HGNC_symbol:POP4 ; + skos:exactMatch UMLS:C1428930, + HGNC:30081, + HGNC_symbol:POP4 ; biolink:category biolink:Gene . OMIM:606115 a owl:Class ; @@ -216011,14 +223584,15 @@ OMIM:606115 a owl:Class ; IAO:0000142 PMID:10024167, PMID:9037013, PMID:9630247 ; - oboInOwl:hasDbXref UMLS:C1425037 ; oboInOwl:hasExactSynonym "RPP30", "ribonuclease p, 30-kd subunit", "ribonuclease p/mrp subunit p30", "ribonuclease p/mrp, 30-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10556 ; - skos:exactMatch HGNC_symbol:RPP30 ; + skos:exactMatch UMLS:C1425037, + HGNC:17688, + HGNC_symbol:RPP30 ; biolink:category biolink:Gene . OMIM:606116 a owl:Class ; @@ -216027,26 +223601,28 @@ OMIM:606116 a owl:Class ; PMID:16778078, PMID:9037013, PMID:9630247 ; - oboInOwl:hasDbXref UMLS:C1428963 ; oboInOwl:hasExactSynonym "RPP38", "ribonuclease p, 38-kd subunit", "ribonuclease p/mrp subunit p38", "ribonuclease p/mrp, 38-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10557 ; - skos:exactMatch HGNC_symbol:RPP38 ; + skos:exactMatch UMLS:C1428963, + HGNC:30329, + HGNC_symbol:RPP38 ; biolink:category biolink:Gene . OMIM:606117 a owl:Class ; rdfs:label "RPP40" ; IAO:0000142 PMID:9630247 ; - oboInOwl:hasDbXref UMLS:C1427230 ; oboInOwl:hasExactSynonym "RPP40", "ribonuclease p, 40-kd subunit", "ribonuclease p/mrp subunit p40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10799 ; - skos:exactMatch HGNC_symbol:RPP40 ; + skos:exactMatch UMLS:C1427230, + HGNC:20992, + HGNC_symbol:RPP40 ; biolink:category biolink:Gene . OMIM:606118 a owl:Class ; @@ -216056,15 +223632,16 @@ OMIM:606118 a owl:Class ; PMID:11707070 ; RO:0002525 CHR:9606chr3q24 ; RO:0003303 OMIM:614072 ; - oboInOwl:hasDbXref UMLS:C1423606, - UMLS:C3888001 ; oboInOwl:hasExactSynonym "HPS3", "hps3 biogenesis of lysosomal organelles complex 2, subunit 1", "hps3 cocoa, mouse, homolog of", "hps3 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84343 ; - skos:exactMatch HGNC_symbol:HPS3 ; + skos:exactMatch UMLS:C1423606, + UMLS:C3888001, + HGNC:15597, + HGNC_symbol:HPS3 ; biolink:category biolink:Gene . OMIM:606119 a owl:Class ; @@ -216078,7 +223655,6 @@ OMIM:606119 a owl:Class ; PMID:9887370 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:248300 ; - oboInOwl:hasDbXref UMLS:C1539788 ; oboInOwl:hasExactSynonym "SLURP1", "ars component B", "ars component b-81/s precursor", @@ -216086,7 +223662,9 @@ OMIM:606119 a owl:Class ; "secreted ly6/upar-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57152 ; - skos:exactMatch HGNC_symbol:SLURP1 ; + skos:exactMatch UMLS:C1539788, + HGNC:18746, + HGNC_symbol:SLURP1 ; biolink:category biolink:Gene . OMIM:606120 a owl:Class ; @@ -216097,7 +223675,6 @@ OMIM:606121 a owl:Class ; rdfs:label "CRCP" ; IAO:0000142 PMID:10067875, PMID:10903324 ; - oboInOwl:hasDbXref UMLS:C1853667 ; oboInOwl:hasExactSynonym "CRCP", "RNA polymerase iii, subunit c9", "calcitonin gene-related peptide receptor component protein", @@ -216107,45 +223684,50 @@ OMIM:606121 a owl:Class ; "rpc17, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27297 ; - skos:exactMatch HGNC_symbol:CRCP ; + skos:exactMatch UMLS:C1853667, + HGNC:17888, + HGNC_symbol:CRCP ; biolink:category biolink:Gene . OMIM:606122 a owl:Class ; rdfs:label "TNFRSF19" ; IAO:0000142 PMID:10764796, PMID:10809768 ; - oboInOwl:hasDbXref UMLS:C1420811 ; oboInOwl:hasExactSynonym "TNFRSF19", "toxicity and jnk inducer", "troy", "tumor necrosis factor receptor superfamily, member 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55504 ; - skos:exactMatch HGNC_symbol:TNFRSF19 ; + skos:exactMatch UMLS:C1420811, + HGNC:11915, + HGNC_symbol:TNFRSF19 ; biolink:category biolink:Gene . OMIM:606123 a owl:Class ; rdfs:label "RNF16" ; IAO:0000142 PMID:10894938, PMID:9792805 ; - oboInOwl:hasDbXref UMLS:C1421988 ; oboInOwl:hasExactSynonym "RNF16", "ring finger protein 16", "testis ring finger protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51127 ; - skos:exactMatch HGNC_symbol:TRIM17 ; + skos:exactMatch UMLS:C1421988, + HGNC:13430, + HGNC_symbol:TRIM17 ; biolink:category biolink:Gene . OMIM:606124 a owl:Class ; rdfs:label "RNF18" ; IAO:0000142 PMID:11018261 ; - oboInOwl:hasDbXref UMLS:C1540058 ; oboInOwl:hasExactSynonym "RNF18", "ring finger protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57093 ; - skos:exactMatch HGNC_symbol:TRIM49 ; + skos:exactMatch UMLS:C1540058, + HGNC:13431, + HGNC_symbol:TRIM49 ; biolink:category biolink:Gene . OMIM:606125 a owl:Class ; @@ -216155,27 +223737,29 @@ OMIM:606125 a owl:Class ; PMID:12163497 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:619428 ; - oboInOwl:hasDbXref UMLS:C1423591 ; oboInOwl:hasExactSynonym "TRIM8", "glioblastoma-expressed ring finger protein", "ring finger protein 27", "tripartite motif-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81603 ; - skos:exactMatch HGNC_symbol:TRIM8 ; + skos:exactMatch UMLS:C1423591, + HGNC:15579, + HGNC_symbol:TRIM8 ; biolink:category biolink:Gene . OMIM:606126 a owl:Class ; rdfs:label "BCL2L14" ; IAO:0000142 PMID:11054413, PMID:11896457 ; - oboInOwl:hasDbXref UMLS:C1424472 ; oboInOwl:hasExactSynonym "BCL2L14", "apoptosis regulator bclg", "bcl2-like 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79370 ; - skos:exactMatch HGNC_symbol:BCL2L14 ; + skos:exactMatch UMLS:C1424472, + HGNC:16657, + HGNC_symbol:BCL2L14 ; biolink:category biolink:Gene . OMIM:606127 a owl:Class ; @@ -216199,14 +223783,15 @@ OMIM:606127 a owl:Class ; PMID:31513549 ; RO:0002525 CHR:9606chr17p12 ; RO:0003303 OMIM:618719 ; - oboInOwl:hasDbXref UMLS:C1423951, - UMLS:C5231472 ; oboInOwl:hasExactSynonym "MYOCD", "mycd", "myocardin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93649 ; - skos:exactMatch HGNC_symbol:MYOCD ; + skos:exactMatch UMLS:C1423951, + UMLS:C5231472, + HGNC:16067, + HGNC_symbol:MYOCD ; biolink:category biolink:Gene . OMIM:606128 a owl:Class ; @@ -216216,12 +223801,13 @@ OMIM:606128 a owl:Class ; OMIM:606130 a owl:Class ; rdfs:label "RNF26" ; IAO:0000142 PMID:11352657 ; - oboInOwl:hasDbXref UMLS:C1422811 ; oboInOwl:hasExactSynonym "RNF26", "ring finger protein 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79102 ; - skos:exactMatch HGNC_symbol:RNF26 ; + skos:exactMatch UMLS:C1422811, + HGNC:14646, + HGNC_symbol:RNF26 ; biolink:category biolink:Gene . OMIM:606131 a owl:Class ; @@ -216232,7 +223818,6 @@ OMIM:606131 a owl:Class ; PMID:15479644, PMID:19498199, PMID:19574461 ; - oboInOwl:hasDbXref UMLS:C1540067 ; oboInOwl:hasExactSynonym "TRIM63", "e3 ubiquitin protein ligase trim63", "muscle-specific ring finger protein 1", @@ -216241,21 +223826,24 @@ OMIM:606131 a owl:Class ; "tripartite motif-containing protein 63" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84676 ; - skos:exactMatch HGNC_symbol:TRIM63 ; + skos:exactMatch UMLS:C1540067, + HGNC:16007, + HGNC_symbol:TRIM63 ; biolink:category biolink:Gene . OMIM:606132 a owl:Class ; rdfs:label "CDC42EP2" ; IAO:0000142 PMID:10490598, PMID:11035016 ; - oboInOwl:hasDbXref UMLS:C1424136 ; oboInOwl:hasExactSynonym "CDC42EP2", "binder of rho gtpases 1", "cdc42 effector protein 2", "cep2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10435 ; - skos:exactMatch HGNC_symbol:CDC42EP2 ; + skos:exactMatch UMLS:C1424136, + HGNC:16263, + HGNC_symbol:CDC42EP2 ; biolink:category biolink:Gene . OMIM:606133 a owl:Class ; @@ -216263,14 +223851,15 @@ OMIM:606133 a owl:Class ; IAO:0000142 PMID:10490598, PMID:11035016, PMID:9535835 ; - oboInOwl:hasDbXref UMLS:C1424654 ; oboInOwl:hasExactSynonym "CDC42EP3", "binder of rho gtpases 2", "cdc42 effector protein 3", "cep3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10602 ; - skos:exactMatch HGNC_symbol:CDC42EP3 ; + skos:exactMatch UMLS:C1424654, + HGNC:16943, + HGNC_symbol:CDC42EP3 ; biolink:category biolink:Gene . OMIM:606134 a owl:Class ; @@ -216282,14 +223871,15 @@ OMIM:606134 a owl:Class ; PMID:16195463, PMID:19170759, PMID:32132710 ; - oboInOwl:hasDbXref UMLS:C1826797 ; oboInOwl:hasExactSynonym "REV1", "alpha-integrin-binding protein 80", "rev1 dna-directed polymerase", "rev1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51455 ; - skos:exactMatch HGNC_symbol:REV1 ; + skos:exactMatch UMLS:C1826797, + HGNC:14060, + HGNC_symbol:REV1 ; biolink:category biolink:Gene . OMIM:606135 a owl:Class ; @@ -216297,63 +223887,68 @@ OMIM:606135 a owl:Class ; IAO:0000142 PMID:11309303, PMID:11352573, PMID:16829021 ; - oboInOwl:hasDbXref UMLS:C1416674 ; oboInOwl:hasExactSynonym "KLK14", "kallikrein 14", "kallikrein-related peptidase 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:43847 ; - skos:exactMatch HGNC_symbol:KLK14 ; + skos:exactMatch UMLS:C1416674, + HGNC:6362, + HGNC_symbol:KLK14 ; biolink:category biolink:Gene . OMIM:606136 a owl:Class ; rdfs:label "RASAL2" ; IAO:0000142 PMID:9877179 ; - oboInOwl:hasDbXref UMLS:C1419280 ; oboInOwl:hasExactSynonym "RASAL2", "ngap", "ras protein activator-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9462 ; - skos:exactMatch HGNC_symbol:RASAL2 ; + skos:exactMatch UMLS:C1419280, + HGNC:9874, + HGNC_symbol:RASAL2 ; biolink:category biolink:Gene . OMIM:606137 a owl:Class ; rdfs:label "CGREF1" ; IAO:0000142 PMID:8968090 ; - oboInOwl:hasDbXref UMLS:C1424665 ; oboInOwl:hasExactSynonym "CGREF1", "cell growth regulator with ef-hand domain 1", "cell growth regulatory gene 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10669 ; - skos:exactMatch HGNC_symbol:CGREF1 ; + skos:exactMatch UMLS:C1424665, + HGNC:16962, + HGNC_symbol:CGREF1 ; biolink:category biolink:Gene . OMIM:606138 a owl:Class ; rdfs:label "CGRRF1" ; IAO:0000142 PMID:8968090 ; - oboInOwl:hasDbXref UMLS:C1423556 ; oboInOwl:hasExactSynonym "CGRRF1", "cell growth regulator with ring finger domain 1", "cell growth regulatory gene 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10668 ; - skos:exactMatch HGNC_symbol:CGRRF1 ; + skos:exactMatch UMLS:C1423556, + HGNC:15528, + HGNC_symbol:CGRRF1 ; biolink:category biolink:Gene . OMIM:606139 a owl:Class ; rdfs:label "KLF16" ; IAO:0000142 PMID:11390978, PMID:15820306 ; - oboInOwl:hasDbXref UMLS:C1424598 ; oboInOwl:hasExactSynonym "KLF16", "basic transcription element-binding protein 4", "dopamine receptor-regulating factor", "kruppel-like factor 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83855 ; - skos:exactMatch HGNC_symbol:KLF16 ; + skos:exactMatch UMLS:C1424598, + HGNC:16857, + HGNC_symbol:KLF16 ; biolink:category biolink:Gene . OMIM:606140 a owl:Class ; @@ -216361,24 +223956,26 @@ OMIM:606140 a owl:Class ; IAO:0000142 PMID:11024021, PMID:11071879, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1422413 ; oboInOwl:hasExactSynonym "XPO7", "exportin 7", "ran-binding protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23039 ; - skos:exactMatch HGNC_symbol:XPO7 ; + skos:exactMatch UMLS:C1422413, + HGNC:14108, + HGNC_symbol:XPO7 ; biolink:category biolink:Gene . OMIM:606141 a owl:Class ; rdfs:label "RANBP17" ; IAO:0000142 PMID:11071879 ; - oboInOwl:hasDbXref UMLS:C1422638 ; oboInOwl:hasExactSynonym "RANBP17", "ran-binding protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64901 ; - skos:exactMatch HGNC_symbol:RANBP17 ; + skos:exactMatch UMLS:C1422638, + HGNC:14428, + HGNC_symbol:RANBP17 ; biolink:category biolink:Gene . OMIM:606142 a owl:Class ; @@ -216399,29 +223996,31 @@ OMIM:606142 a owl:Class ; PMID:25966807 ; RO:0002525 CHR:9606chr4p16.1 ; RO:0003303 OMIM:612076 ; - oboInOwl:hasDbXref UMLS:C1421998, - UMLS:C2677550, - UMLS:C4225531, - UMLS:C4225532 ; oboInOwl:hasExactSynonym "SLC2A9", "glucose transporter 9", "solute carrier family 2 (facilitated glucose transporter), member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56606 ; - skos:exactMatch HGNC_symbol:SLC2A9 ; + skos:exactMatch UMLS:C1421998, + UMLS:C2677550, + UMLS:C4225531, + UMLS:C4225532, + HGNC:13446, + HGNC_symbol:SLC2A9 ; biolink:category biolink:Gene . OMIM:606143 a owl:Class ; rdfs:label "FZD3" ; IAO:0000142 PMID:10777673, PMID:10873558 ; - oboInOwl:hasDbXref UMLS:C1333585 ; oboInOwl:hasExactSynonym "FZD3", "frizzled class receptor 3", "frizzled, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7976 ; - skos:exactMatch HGNC_symbol:FZD3 ; + skos:exactMatch UMLS:C1333585, + HGNC:4041, + HGNC_symbol:FZD3 ; biolink:category biolink:Gene . OMIM:606144 a owl:Class ; @@ -216434,12 +224033,13 @@ OMIM:606144 a owl:Class ; PMID:7720556 ; RO:0002525 CHR:9606chr6p12.1-p11.2 ; RO:0003303 OMIM:201000 ; - oboInOwl:hasDbXref UMLS:C1422524 ; oboInOwl:hasExactSynonym "RAB23", "ras-associated protein rab23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51715 ; - skos:exactMatch HGNC_symbol:RAB23 ; + skos:exactMatch UMLS:C1422524, + HGNC:14263, + HGNC_symbol:RAB23 ; biolink:category biolink:Gene . OMIM:606145 a owl:Class ; @@ -216457,13 +224057,14 @@ OMIM:606145 a owl:Class ; PMID:26376865 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:208050 ; - oboInOwl:hasDbXref UMLS:C1421996 ; oboInOwl:hasExactSynonym "SLC2A10", "glucose transporter 10", "solute carrier family 2 (facilitated glucose transporter), member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81031 ; - skos:exactMatch HGNC_symbol:SLC2A10 ; + skos:exactMatch UMLS:C1421996, + HGNC:13444, + HGNC_symbol:SLC2A10 ; biolink:category biolink:Gene . OMIM:606146 a owl:Class ; @@ -216475,25 +224076,27 @@ OMIM:606146 a owl:Class ; PMID:15282374, PMID:22653731, PMID:8626800 ; - oboInOwl:hasDbXref UMLS:C1414889 ; oboInOwl:hasExactSynonym "FZD8", "frizzled class receptor 8", "frizzled, drosophila, homolog of, 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8325 ; - skos:exactMatch HGNC_symbol:FZD8 ; + skos:exactMatch UMLS:C1414889, + HGNC:4046, + HGNC_symbol:FZD8 ; biolink:category biolink:Gene . OMIM:606147 a owl:Class ; rdfs:label "FZD10" ; IAO:0000142 PMID:10448064 ; - oboInOwl:hasDbXref UMLS:C1414887 ; oboInOwl:hasExactSynonym "FZD10", "frizzled class receptor 10", "frizzled, drosophila, homolog of, 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11211 ; - skos:exactMatch HGNC_symbol:FZD10 ; + skos:exactMatch UMLS:C1414887, + HGNC:4039, + HGNC_symbol:FZD10 ; biolink:category biolink:Gene . OMIM:606148 a owl:Class ; @@ -216503,12 +224106,13 @@ OMIM:606148 a owl:Class ; PMID:21886157, PMID:22503634, PMID:9445487 ; - oboInOwl:hasDbXref UMLS:C1414521 ; oboInOwl:hasExactSynonym "FADS1", "fatty acid desaturase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3992 ; - skos:exactMatch HGNC_symbol:FADS1 ; + skos:exactMatch UMLS:C1414521, + HGNC:3574, + HGNC_symbol:FADS1 ; biolink:category biolink:Gene . OMIM:606149 a owl:Class ; @@ -216517,24 +224121,26 @@ OMIM:606149 a owl:Class ; PMID:22503634, PMID:9445487, PMID:9867867 ; - oboInOwl:hasDbXref UMLS:C2746045 ; oboInOwl:hasExactSynonym "FADS2", "fatty acid desaturase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9415 ; - skos:exactMatch HGNC_symbol:FADS2 ; + skos:exactMatch UMLS:C2746045, + HGNC:3575, + HGNC_symbol:FADS2 ; biolink:category biolink:Gene . OMIM:606150 a owl:Class ; rdfs:label "FADS3" ; IAO:0000142 PMID:10860662, PMID:9445487 ; - oboInOwl:hasDbXref UMLS:C1414523 ; oboInOwl:hasExactSynonym "FADS3", "fatty acid desaturase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3995 ; - skos:exactMatch HGNC_symbol:FADS3 ; + skos:exactMatch UMLS:C1414523, + HGNC:3576, + HGNC_symbol:FADS3 ; biolink:category biolink:Gene . OMIM:606151 a owl:Class ; @@ -216558,12 +224164,13 @@ OMIM:606151 a owl:Class ; PMID:8298649 ; RO:0002525 CHR:9606chr16q13 ; RO:0003303 OMIM:616562 ; - oboInOwl:hasDbXref UMLS:C1412747 ; oboInOwl:hasExactSynonym "BBS2", "bbs2 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:583 ; - skos:exactMatch HGNC_symbol:BBS2 ; + skos:exactMatch UMLS:C1412747, + HGNC:967, + HGNC_symbol:BBS2 ; biolink:category biolink:Gene . OMIM:606152 a owl:Class ; @@ -216582,13 +224189,14 @@ OMIM:606152 a owl:Class ; PMID:29236641 ; RO:0002525 CHR:9606chr2q36.3 ; RO:0003303 OMIM:607483 ; - oboInOwl:hasDbXref UMLS:C1424138 ; oboInOwl:hasExactSynonym "SLC19A3", "solute carrier family 19 (thiamine transporter), member 3", "thiamine transporter 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80704 ; - skos:exactMatch HGNC_symbol:SLC19A3 ; + skos:exactMatch UMLS:C1424138, + HGNC:16266, + HGNC_symbol:SLC19A3 ; biolink:category biolink:Gene . OMIM:606153 a owl:Class ; @@ -216600,28 +224208,30 @@ OMIM:606153 a owl:Class ; PMID:7599212 ; RO:0002525 CHR:9606chr20q13.32 ; RO:0003303 OMIM:614053 ; - oboInOwl:hasDbXref UMLS:C1412659, - UMLS:C3279708 ; oboInOwl:hasExactSynonym "ATP5F1E", "atp synthase f1, subunit epsilon", "atp synthase, h+ transporting, mitochondrial f1 complex, epsilon subunit", "atp5e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:514 ; - skos:exactMatch HGNC_symbol:ATP5F1E ; + skos:exactMatch UMLS:C1412659, + UMLS:C3279708, + HGNC:838, + HGNC_symbol:ATP5F1E ; biolink:category biolink:Gene . OMIM:606154 a owl:Class ; rdfs:label "MUC16" ; IAO:0000142 PMID:11369781, PMID:12766047 ; - oboInOwl:hasDbXref UMLS:C1423594 ; oboInOwl:hasExactSynonym "MUC16", "mucin 16", "ovarian carcinoma antigen ca125" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94025 ; - skos:exactMatch HGNC_symbol:MUC16 ; + skos:exactMatch UMLS:C1423594, + HGNC:15582, + HGNC_symbol:MUC16 ; biolink:category biolink:Gene . OMIM:606155 a owl:Class ; @@ -216634,9 +224244,9 @@ OMIM:606156 a owl:Class ; PMID:11311000, PMID:25052316, PMID:8078711 ; - oboInOwl:hasDbXref UMLS:C1853616 ; oboInOwl:hasExactSynonym "frontonasal dysplasia and dilated virchow-robin spaces", - "sener syndrome" . + "sener syndrome" ; + skos:exactMatch UMLS:C1853616 . OMIM:606157 a owl:Class ; rdfs:label "PANK2" ; @@ -216655,12 +224265,13 @@ OMIM:606157 a owl:Class ; PMID:8944032 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:234200 ; - oboInOwl:hasDbXref UMLS:C1423814 ; oboInOwl:hasExactSynonym "PANK2", "pantothenate kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80025 ; - skos:exactMatch HGNC_symbol:PANK2 ; + skos:exactMatch UMLS:C1423814, + HGNC:15894, + HGNC_symbol:PANK2 ; biolink:category biolink:Gene . OMIM:606158 a owl:Class ; @@ -216695,41 +224306,44 @@ OMIM:606158 a owl:Class ; PMID:5964029 ; RO:0002525 CHR:9606chr11q12.3 ; RO:0003303 OMIM:270685 ; - oboInOwl:hasDbXref UMLS:C1423761, - UMLS:C1720863, - UMLS:C2931276, - UMLS:C4014700, - UMLS:C4016959, - UMLS:C5436838 ; oboInOwl:hasExactSynonym "BSCL2", "bscl2 gene", "gng3lg, mouse, homolog of", "seipin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26580 ; - skos:exactMatch HGNC_symbol:BSCL2 ; + skos:exactMatch UMLS:C1423761, + UMLS:C1720863, + UMLS:C2931276, + UMLS:C4014700, + UMLS:C4016959, + UMLS:C5436838, + HGNC:15832, + HGNC_symbol:BSCL2 ; biolink:category biolink:Gene . OMIM:606160 a owl:Class ; rdfs:label "PANK1" ; IAO:0000142 PMID:11479594 ; - oboInOwl:hasDbXref UMLS:C1418263 ; oboInOwl:hasExactSynonym "PANK1", "pantothenate kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53354 ; - skos:exactMatch HGNC_symbol:PANK1 ; + skos:exactMatch UMLS:C1418263, + HGNC:8598, + HGNC_symbol:PANK1 ; biolink:category biolink:Gene . OMIM:606161 a owl:Class ; rdfs:label "PANK3" ; IAO:0000142 PMID:11479594 ; - oboInOwl:hasDbXref UMLS:C1426193 ; oboInOwl:hasExactSynonym "PANK3", "pantothenate kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79646 ; - skos:exactMatch HGNC_symbol:PANK3 ; + skos:exactMatch UMLS:C1426193, + HGNC:19365, + HGNC_symbol:PANK3 ; biolink:category biolink:Gene . OMIM:606162 a owl:Class ; @@ -216737,12 +224351,13 @@ OMIM:606162 a owl:Class ; IAO:0000142 PMID:11479594 ; RO:0002525 CHR:9606chr1p36.32 ; RO:0003303 OMIM:619593 ; - oboInOwl:hasDbXref UMLS:C1426194 ; oboInOwl:hasExactSynonym "PANK4", "pantothenate kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55229 ; - skos:exactMatch HGNC_symbol:PANK4 ; + skos:exactMatch UMLS:C1426194, + HGNC:19366, + HGNC_symbol:PANK4 ; biolink:category biolink:Gene . OMIM:606163 a owl:Class ; @@ -216757,13 +224372,14 @@ OMIM:606165 a owl:Class ; PMID:19865085, PMID:20335278, PMID:8657280 ; - oboInOwl:hasDbXref UMLS:C1422533 ; oboInOwl:hasExactSynonym "BOLL", "bol-like", "boule, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:66037 ; - skos:exactMatch HGNC_symbol:BOLL ; + skos:exactMatch UMLS:C1422533, + HGNC:14273, + HGNC_symbol:BOLL ; biolink:category biolink:Gene . OMIM:606166 a owl:Class ; @@ -216776,13 +224392,14 @@ OMIM:606167 a owl:Class ; PMID:11474113, PMID:15653487, PMID:9770487 ; - oboInOwl:hasDbXref UMLS:C1424979 ; oboInOwl:hasExactSynonym "GPR132", "g protein-coupled receptor 132", "g2 accumulation protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29933 ; - skos:exactMatch HGNC_symbol:GPR132 ; + skos:exactMatch UMLS:C1424979, + HGNC:17482, + HGNC_symbol:GPR132 ; biolink:category biolink:Gene . OMIM:606168 a owl:Class ; @@ -216794,7 +224411,6 @@ OMIM:606168 a owl:Class ; PMID:12007404, PMID:12482992, PMID:16153597 ; - oboInOwl:hasDbXref UMLS:C1413960 ; oboInOwl:hasExactSynonym "DDX20", "dead-box helicase 20", "dead/h-box 20", @@ -216802,7 +224418,9 @@ OMIM:606168 a owl:Class ; "gemin3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11218 ; - skos:exactMatch HGNC_symbol:DDX20 ; + skos:exactMatch UMLS:C1413960, + HGNC:2743, + HGNC_symbol:DDX20 ; biolink:category biolink:Gene . OMIM:606169 a owl:Class ; @@ -216824,17 +224442,16 @@ OMIM:606170 a owl:Class ; PMID:22265017, PMID:23436491, PMID:28857140 ; - oboInOwl:hasDbXref UMLS:C1853566, - ORPHA:85201 ; oboInOwl:hasExactSynonym "GTPTS", "absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation", "genitopatellar syndrome" ; + skos:exactMatch UMLS:C1853566, + ORPHA:85201 ; biolink:category biolink:Disease . OMIM:606171 a owl:Class ; rdfs:label "TRS-TGA2-1" ; IAO:0000142 PMID:3648680 ; - oboInOwl:hasDbXref UMLS:C1424160 ; oboInOwl:hasExactSynonym "TRS-TGA2-1", "transfer RNA serine 1", "trna serine (anticodon tga) 2-1", @@ -216842,13 +224459,14 @@ OMIM:606171 a owl:Class ; "trna-ser (anticodon tga) 2-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94017 ; - skos:exactMatch HGNC_symbol:TRS-TGA2-1 ; + skos:exactMatch UMLS:C1424160, + HGNC:16292, + HGNC_symbol:TRS-TGA2-1 ; biolink:category biolink:Gene . OMIM:606172 a owl:Class ; rdfs:label "TRS-TGA4-1" ; IAO:0000142 PMID:1549482 ; - oboInOwl:hasDbXref UMLS:C1424162 ; oboInOwl:hasExactSynonym "TRS-TGA4-1", "transfer RNA serine (tga) 4-1", "transfer RNA serine 3", @@ -216857,7 +224475,9 @@ OMIM:606172 a owl:Class ; "trna-ser (anticodon tga) 4-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23540 ; - skos:exactMatch HGNC_symbol:TRS-TGA4-1 ; + skos:exactMatch UMLS:C1424162, + HGNC:16294, + HGNC_symbol:TRS-TGA4-1 ; biolink:category biolink:Gene . OMIM:606173 a owl:Class ; @@ -216866,14 +224486,15 @@ OMIM:606173 a owl:Class ; PMID:28848044, PMID:30098457, PMID:9694873 ; - oboInOwl:hasDbXref UMLS:C1426341 ; oboInOwl:hasExactSynonym "GRPEL1", "grpe, e. coli, homolog of, 1", "grpe-like 1, mitochondrial", "human mitochondrial grpe protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80273 ; - skos:exactMatch HGNC_symbol:GRPEL1 ; + skos:exactMatch UMLS:C1426341, + HGNC:19696, + HGNC_symbol:GRPEL1 ; biolink:category biolink:Gene . OMIM:606174 a owl:Class ; @@ -216881,16 +224502,16 @@ OMIM:606174 a owl:Class ; IAO:0000142 PMID:11424148, PMID:1751388, PMID:9391088 ; - oboInOwl:hasDbXref UMLS:C1853565 ; oboInOwl:hasExactSynonym "baculum, congenital absence of", - "os penis, congenital absence of" . + "os penis, congenital absence of" ; + skos:exactMatch UMLS:C1853565 . OMIM:606175 a owl:Class ; rdfs:label "carnitine acetyltransferase deficiency" ; IAO:0000142 PMID:3119936, PMID:574220 ; - oboInOwl:hasDbXref UMLS:C1443228 ; - oboInOwl:hasExactSynonym "carnitine acetyltransferase deficiency" . + oboInOwl:hasExactSynonym "carnitine acetyltransferase deficiency" ; + skos:exactMatch UMLS:C1443228 . OMIM:606176 a owl:Class ; rdfs:label "diabetes mellitus, permanent neonatal, 1" ; @@ -216899,13 +224520,13 @@ OMIM:606176 a owl:Class ; PMID:11942315, PMID:14578306, PMID:18571549 ; - oboInOwl:hasDbXref UMLS:C5393570, - ORPHA:79134, - ORPHA:99885 ; oboInOwl:hasExactSynonym "PNDM1", "diabetes mellitus, permanent neonatal, 1", "diabetes mellitus, permanent, of infancy" ; rdfs:subClassOf OMIMPS:606176 ; + skos:exactMatch UMLS:C5393570, + ORPHA:79134, + ORPHA:99885 ; biolink:category biolink:Disease . OMIM:606177 a owl:Class ; @@ -216914,8 +224535,8 @@ OMIM:606177 a owl:Class ; PMID:11336946, PMID:6635352, PMID:8510893 ; - oboInOwl:hasDbXref UMLS:C0030593 ; - oboInOwl:hasExactSynonym "pars planitis" . + oboInOwl:hasExactSynonym "pars planitis" ; + skos:exactMatch UMLS:C0030593 . OMIM:606178 a owl:Class ; rdfs:label "HHIP" ; @@ -216924,13 +224545,14 @@ OMIM:606178 a owl:Class ; PMID:18794898, PMID:19252479, PMID:22140090 ; - oboInOwl:hasDbXref UMLS:C1423009 ; oboInOwl:hasExactSynonym "HHIP", "hedgehog-interacting protein", "hip" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64399 ; - skos:exactMatch HGNC_symbol:HHIP ; + skos:exactMatch UMLS:C1423009, + HGNC:14866, + HGNC_symbol:HHIP ; biolink:category biolink:Gene . OMIM:606180 a owl:Class ; @@ -216940,8 +224562,6 @@ OMIM:606180 a owl:Class ; PMID:30690203 ; RO:0002525 CHR:9606chr4q27 ; RO:0003303 OMIM:618065 ; - oboInOwl:hasDbXref UMLS:C1539371, - UMLS:C4748058 ; oboInOwl:hasExactSynonym "EXOSC9", "exosome component 9", "pmscl autoantigen, 75-kd", @@ -216949,19 +224569,23 @@ OMIM:606180 a owl:Class ; "polymyositis/scleroderma autoantigen, 75-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5393 ; - skos:exactMatch HGNC_symbol:EXOSC9 ; + skos:exactMatch UMLS:C1539371, + UMLS:C4748058, + HGNC:9137, + HGNC_symbol:EXOSC9 ; biolink:category biolink:Gene . OMIM:606181 a owl:Class ; rdfs:label "DDX24" ; IAO:0000142 PMID:10936056 ; - oboInOwl:hasDbXref UMLS:C1421913 ; oboInOwl:hasExactSynonym "DDX24", "dead-box helicase 24", "dead/h-box 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57062 ; - skos:exactMatch HGNC_symbol:DDX24 ; + skos:exactMatch UMLS:C1421913, + HGNC:13266, + HGNC_symbol:DDX24 ; biolink:category biolink:Gene . OMIM:606182 a owl:Class ; @@ -216969,21 +224593,22 @@ OMIM:606182 a owl:Class ; IAO:0000142 PMID:18026115, PMID:21059892, PMID:8088337 ; - oboInOwl:hasDbXref UMLS:C1420821 ; oboInOwl:hasExactSynonym "4-1bb-l, mouse, homolog of", "TNFSF9", "cd137 ligand", "tumor necrosis factor ligand superfamily, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8744 ; - skos:exactMatch HGNC_symbol:TNFSF9 ; + skos:exactMatch UMLS:C1420821, + HGNC:11939, + HGNC_symbol:TNFSF9 ; biolink:category biolink:Gene . OMIM:606183 a owl:Class ; rdfs:label "laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy" ; IAO:0000142 PMID:11376202 ; - oboInOwl:hasDbXref UMLS:C1853556 ; - oboInOwl:hasExactSynonym "laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy" . + oboInOwl:hasExactSynonym "laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy" ; + skos:exactMatch UMLS:C1853556 . OMIM:606184 a owl:Class ; rdfs:label "ADAMTS12" ; @@ -216992,12 +224617,13 @@ OMIM:606184 a owl:Class ; PMID:19151918, PMID:21494557, PMID:23019333 ; - oboInOwl:hasDbXref UMLS:C1422786 ; oboInOwl:hasExactSynonym "ADAMTS12", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81792 ; - skos:exactMatch HGNC_symbol:ADAMTS12 ; + skos:exactMatch UMLS:C1422786, + HGNC:14605, + HGNC_symbol:ADAMTS12 ; biolink:category biolink:Gene . OMIM:606185 a owl:Class ; @@ -217005,25 +224631,27 @@ OMIM:606185 a owl:Class ; IAO:0000142 PMID:11511362, PMID:17911264, PMID:21339733 ; - oboInOwl:hasDbXref UMLS:C1425248 ; oboInOwl:hasExactSynonym "TP53INP1", "p53-dependent damage-inducible nuclear protein 1", "tumor protein p53-inducible nuclear protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94241 ; - skos:exactMatch HGNC_symbol:TP53INP1 ; + skos:exactMatch UMLS:C1425248, + HGNC:18022, + HGNC_symbol:TP53INP1 ; biolink:category biolink:Gene . OMIM:606186 a owl:Class ; rdfs:label "CACYBP" ; IAO:0000142 PMID:11389839 ; - oboInOwl:hasDbXref UMLS:C1538430 ; oboInOwl:hasExactSynonym "CACYBP", "calcyclin-binding protein", "siah1-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27101 ; - skos:exactMatch HGNC_symbol:CACYBP ; + skos:exactMatch UMLS:C1538430, + HGNC:30423, + HGNC_symbol:CACYBP ; biolink:category biolink:Gene . OMIM:606188 a owl:Class ; @@ -217032,13 +224660,14 @@ OMIM:606188 a owl:Class ; PMID:10587367, PMID:11724793, PMID:12037602 ; - oboInOwl:hasDbXref UMLS:C1412197 ; oboInOwl:hasExactSynonym "ADAM28", "a disintegrin and metalloproteinase domain 28", "metalloproteinase-like, disintegrin-like, and cysteine-rich protein, lymphocyte-expressed" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10863 ; - skos:exactMatch HGNC_symbol:ADAM28 ; + skos:exactMatch UMLS:C1412197, + HGNC:206, + HGNC_symbol:ADAM28 ; biolink:category biolink:Gene . OMIM:606189 a owl:Class ; @@ -217050,12 +224679,13 @@ OMIM:606189 a owl:Class ; PMID:25561690, PMID:26681494, PMID:27803996 ; - oboInOwl:hasDbXref UMLS:C1413711 ; oboInOwl:hasExactSynonym "CRIM1", "cysteine-rich motor neuron protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51232 ; - skos:exactMatch HGNC_symbol:CRIM1 ; + skos:exactMatch UMLS:C1413711, + HGNC:2359, + HGNC_symbol:CRIM1 ; biolink:category biolink:Gene . OMIM:606191 a owl:Class ; @@ -217063,52 +224693,56 @@ OMIM:606191 a owl:Class ; IAO:0000142 PMID:11438682, PMID:14596906, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1424722, - UMLS:C1853553 ; oboInOwl:hasExactSynonym "FNBP1", "fbp17/mll fusion gene", "formin-binding protein 1", "formin-binding protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23048 ; - skos:exactMatch HGNC_symbol:FNBP1 ; + skos:exactMatch UMLS:C1424722, + UMLS:C1853553, + HGNC:17069, + HGNC_symbol:FNBP1 ; biolink:category biolink:Gene . OMIM:606192 a owl:Class ; rdfs:label "BTNL3" ; IAO:0000142 PMID:10429365 ; - oboInOwl:hasDbXref UMLS:C1412850 ; oboInOwl:hasExactSynonym "BTNL3", "butyrophilin-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10917 ; - skos:exactMatch HGNC_symbol:BTNL3 ; + skos:exactMatch UMLS:C1412850, + HGNC:1143, + HGNC_symbol:BTNL3 ; biolink:category biolink:Gene . OMIM:606193 a owl:Class ; rdfs:label "SLC13A1" ; IAO:0000142 PMID:11161786, PMID:14578452 ; - oboInOwl:hasDbXref UMLS:C1420096 ; oboInOwl:hasExactSynonym "SLC13A1", "sodium-inorganic sulfate cotransporter 1", "solute carrier family 13 (sodium/sulfate symporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6561 ; - skos:exactMatch HGNC_symbol:SLC13A1 ; + skos:exactMatch UMLS:C1420096, + HGNC:10916, + HGNC_symbol:SLC13A1 ; biolink:category biolink:Gene . OMIM:606194 a owl:Class ; rdfs:label "KRT23" ; IAO:0000142 PMID:11135429 ; - oboInOwl:hasDbXref UMLS:C1416738 ; oboInOwl:hasExactSynonym "KRT23", "k23", "ka23", "keratin 23, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25984 ; - skos:exactMatch HGNC_symbol:KRT23 ; + skos:exactMatch UMLS:C1416738, + HGNC:6438, + HGNC_symbol:KRT23 ; biolink:category biolink:Gene . OMIM:606195 a owl:Class ; @@ -217122,13 +224756,14 @@ OMIM:606195 a owl:Class ; PMID:9486539 ; RO:0002525 CHR:9606chr16q12.2 ; RO:0003303 OMIM:611174 ; - oboInOwl:hasDbXref UMLS:C1422593 ; oboInOwl:hasExactSynonym "IRX5", "iroquois homeobox protein 5", "irxb2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10265 ; - skos:exactMatch HGNC_symbol:IRX5 ; + skos:exactMatch UMLS:C1422593, + HGNC:14361, + HGNC_symbol:IRX5 ; biolink:category biolink:Gene . OMIM:606196 a owl:Class ; @@ -217136,14 +224771,15 @@ OMIM:606196 a owl:Class ; IAO:0000142 PMID:10370142, PMID:11435706, PMID:9486539 ; - oboInOwl:hasDbXref UMLS:C1422831 ; oboInOwl:hasExactSynonym "IRX6", "iroquois homeobox protein 6", "iroquois homeobox protein 7, formerly", "irxb3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79190 ; - skos:exactMatch HGNC_symbol:IRX6 ; + skos:exactMatch UMLS:C1422831, + HGNC:14675, + HGNC_symbol:IRX6 ; biolink:category biolink:Gene . OMIM:606197 a owl:Class ; @@ -217151,13 +224787,14 @@ OMIM:606197 a owl:Class ; IAO:0000142 PMID:10370142, PMID:11435706, PMID:9486539 ; - oboInOwl:hasDbXref UMLS:C1422590 ; oboInOwl:hasExactSynonym "IRX1", "iroquois homeobox protein 1", "irxa1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79192 ; - skos:exactMatch HGNC_symbol:IRX1 ; + skos:exactMatch UMLS:C1422590, + HGNC:14358, + HGNC_symbol:IRX1 ; biolink:category biolink:Gene . OMIM:606198 a owl:Class ; @@ -217165,13 +224802,14 @@ OMIM:606198 a owl:Class ; IAO:0000142 PMID:10370142, PMID:11435706, PMID:9486539 ; - oboInOwl:hasDbXref UMLS:C1422591 ; oboInOwl:hasExactSynonym "IRX2", "iroquois homeobox protein 2", "irxa2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153572 ; - skos:exactMatch HGNC_symbol:IRX2 ; + skos:exactMatch UMLS:C1422591, + HGNC:14359, + HGNC_symbol:IRX2 ; biolink:category biolink:Gene . OMIM:606199 a owl:Class ; @@ -217179,13 +224817,14 @@ OMIM:606199 a owl:Class ; IAO:0000142 PMID:10370142, PMID:10625552, PMID:9486539 ; - oboInOwl:hasDbXref UMLS:C1416477 ; oboInOwl:hasExactSynonym "IRX4", "iroquois homeobox protein 4", "irxa3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50805 ; - skos:exactMatch HGNC_symbol:IRX4 ; + skos:exactMatch UMLS:C1416477, + HGNC:6129, + HGNC_symbol:IRX4 ; biolink:category biolink:Gene . OMIM:606200 a owl:Class ; @@ -217200,15 +224839,16 @@ OMIM:606200 a owl:Class ; PMID:9361282 ; RO:0002525 CHR:9606chr12p12.1 ; RO:0003303 OMIM:612975 ; - oboInOwl:hasDbXref UMLS:C1424440, - UMLS:C5200932 ; oboInOwl:hasExactSynonym "BHLHE41", "basic helix-loop-helix domain-containing protein, class b, 3", "basic helix-loop-helix family, member e41", "enhancer of split- and hairy-related protein 1, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79365 ; - skos:exactMatch HGNC_symbol:BHLHE41 ; + skos:exactMatch UMLS:C1424440, + UMLS:C5200932, + HGNC:16617, + HGNC_symbol:BHLHE41 ; biolink:category biolink:Gene . OMIM:606201 a owl:Class ; @@ -217248,18 +224888,19 @@ OMIM:606201 a owl:Class ; PMID:9817917 ; RO:0002525 CHR:9606chr4p16.1 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1421501, - UMLS:C1833021, - UMLS:C3280358, - UMLS:C3805412, - UMLS:C4016960, - UMLS:C4551693 ; oboInOwl:hasExactSynonym "WFS1", "wolframin", "wolframin er transmembrane glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7466 ; - skos:exactMatch HGNC_symbol:WFS1 ; + skos:exactMatch UMLS:C1421501, + UMLS:C1833021, + UMLS:C3280358, + UMLS:C3805412, + UMLS:C4016960, + UMLS:C4551693, + HGNC:12762, + HGNC_symbol:WFS1 ; biolink:category biolink:Gene . OMIM:606202 a owl:Class ; @@ -217284,14 +224925,15 @@ OMIM:606202 a owl:Class ; PMID:23707431 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:227240 ; - oboInOwl:hasDbXref UMLS:C1822764 ; oboInOwl:hasExactSynonym "SLC45A2", "melanoma antigen aim1", "membrane-associated transporter protein", "solute carrier family 45, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51151 ; - skos:exactMatch HGNC_symbol:SLC45A2 ; + skos:exactMatch UMLS:C1822764, + HGNC:16472, + HGNC_symbol:SLC45A2 ; biolink:category biolink:Gene . OMIM:606203 a owl:Class ; @@ -217306,13 +224948,14 @@ OMIM:606203 a owl:Class ; PMID:18272374, PMID:18854865, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1333653 ; oboInOwl:hasExactSynonym "GAB2", "grb2-associated binding protein 2", "kiaa0571" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9846 ; - skos:exactMatch HGNC_symbol:GAB2 ; + skos:exactMatch UMLS:C1333653, + HGNC:14458, + HGNC_symbol:GAB2 ; biolink:category biolink:Gene . OMIM:606204 a owl:Class ; @@ -217320,36 +224963,39 @@ OMIM:606204 a owl:Class ; IAO:0000142 PMID:19833765, PMID:7790363, PMID:9366413 ; - oboInOwl:hasDbXref UMLS:C1421945 ; oboInOwl:hasExactSynonym "LY6D", "e48 antigen", "lymphocyte antigen 6 complex, locus d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8581 ; - skos:exactMatch HGNC_symbol:LY6D ; + skos:exactMatch UMLS:C1421945, + HGNC:13348, + HGNC_symbol:LY6D ; biolink:category biolink:Gene . OMIM:606205 a owl:Class ; rdfs:label "SLC6A7" ; IAO:0000142 PMID:7651355 ; - oboInOwl:hasDbXref UMLS:C1420218 ; oboInOwl:hasExactSynonym "SLC6A7", "l-proline transporter, brain-specific", "solute carrier family 6 (neurotransmitter transporter, l-proline), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6534 ; - skos:exactMatch HGNC_symbol:SLC6A7 ; + skos:exactMatch UMLS:C1420218, + HGNC:11054, + HGNC_symbol:SLC6A7 ; biolink:category biolink:Gene . OMIM:606206 a owl:Class ; rdfs:label "MT4" ; IAO:0000142 PMID:8003488 ; - oboInOwl:hasDbXref UMLS:C1425724 ; oboInOwl:hasExactSynonym "MT4", "metallothionein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84560 ; - skos:exactMatch HGNC_symbol:MT4 ; + skos:exactMatch UMLS:C1425724, + HGNC:18705, + HGNC_symbol:MT4 ; biolink:category biolink:Gene . OMIM:606207 a owl:Class ; @@ -217363,13 +225009,14 @@ OMIM:606207 a owl:Class ; PMID:9124315 ; RO:0002525 CHR:9606chr15q25.3 ; RO:0003303 OMIM:618477 ; - oboInOwl:hasDbXref UMLS:C1420169 ; oboInOwl:hasExactSynonym "SLC28A1", "concentrative nucleoside transporter 1", "solute carrier family 28 (sodium-coupled nucleoside transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9154 ; - skos:exactMatch HGNC_symbol:SLC28A1 ; + skos:exactMatch UMLS:C1420169, + HGNC:11001, + HGNC_symbol:SLC28A1 ; biolink:category biolink:Gene . OMIM:606208 a owl:Class ; @@ -217377,27 +225024,29 @@ OMIM:606208 a owl:Class ; IAO:0000142 PMID:10087507, PMID:10721696, PMID:9435697 ; - oboInOwl:hasDbXref UMLS:C1420170 ; oboInOwl:hasExactSynonym "SLC28A2", "concentrative nucleoside transporter 2", "sodium-dependent purine nucleoside transporter 1", "solute carrier family 28 (sodium-coupled nucleoside transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9153 ; - skos:exactMatch HGNC_symbol:SLC28A2 ; + skos:exactMatch UMLS:C1420170, + HGNC:11002, + HGNC_symbol:SLC28A2 ; biolink:category biolink:Gene . OMIM:606209 a owl:Class ; rdfs:label "YKT6" ; IAO:0000142 PMID:11474112, PMID:9211930 ; - oboInOwl:hasDbXref UMLS:C1823893 ; oboInOwl:hasExactSynonym "YKT6", "ykt6 v-snare homolog", "ykt6, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10652 ; - skos:exactMatch HGNC_symbol:YKT6 ; + skos:exactMatch UMLS:C1823893, + HGNC:16959, + HGNC_symbol:YKT6 ; biolink:category biolink:Gene . OMIM:606210 a owl:Class ; @@ -217416,16 +225065,17 @@ OMIM:606210 a owl:Class ; PMID:7224095 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:255310 ; - oboInOwl:hasDbXref UMLS:C0410180, - UMLS:C0546264, - UMLS:C1423899 ; oboInOwl:hasExactSynonym "SELENON", "selenoprotein n", "seln", "sepn1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57190 ; - skos:exactMatch HGNC_symbol:SELENON ; + skos:exactMatch UMLS:C0410180, + UMLS:C0546264, + UMLS:C1423899, + HGNC:15999, + HGNC_symbol:SELENON ; biolink:category biolink:Gene . OMIM:606211 a owl:Class ; @@ -217443,13 +225093,14 @@ OMIM:606211 a owl:Class ; PMID:23552949, PMID:25247314, PMID:30135584 ; - oboInOwl:hasDbXref UMLS:C1423066 ; oboInOwl:hasExactSynonym "SIRT6", "sir2-like 6", "sirtuin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51548 ; - skos:exactMatch HGNC_symbol:SIRT6 ; + skos:exactMatch UMLS:C1423066, + HGNC:14934, + HGNC_symbol:SIRT6 ; biolink:category biolink:Gene . OMIM:606212 a owl:Class ; @@ -217460,25 +225111,27 @@ OMIM:606212 a owl:Class ; PMID:18239138, PMID:22722849, PMID:25792330 ; - oboInOwl:hasDbXref UMLS:C1423067 ; oboInOwl:hasExactSynonym "SIRT7", "sir2, s.cerevisiae, homolog-like 7", "sirtuin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51547 ; - skos:exactMatch HGNC_symbol:SIRT7 ; + skos:exactMatch UMLS:C1423067, + HGNC:14935, + HGNC_symbol:SIRT7 ; biolink:category biolink:Gene . OMIM:606213 a owl:Class ; rdfs:label "SSR3" ; IAO:0000142 PMID:7916687 ; - oboInOwl:hasDbXref UMLS:C1420430 ; oboInOwl:hasExactSynonym "SSR3", "signal sequence receptor, gamma", "translocon-associated protein, gamma subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6747 ; - skos:exactMatch HGNC_symbol:SSR3 ; + skos:exactMatch UMLS:C1420430, + HGNC:11325, + HGNC_symbol:SSR3 ; biolink:category biolink:Gene . OMIM:606214 a owl:Class ; @@ -217493,14 +225146,15 @@ OMIM:606214 a owl:Class ; PMID:6637453 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:617519 ; - oboInOwl:hasDbXref UMLS:C1423035 ; oboInOwl:hasExactSynonym "SPTBN4", "quivering, mouse, homolog of", "spectrin, beta, nonerythrocytic, 4", "spectrin, beta-iv" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57731 ; - skos:exactMatch HGNC_symbol:SPTBN4 ; + skos:exactMatch UMLS:C1423035, + HGNC:14896, + HGNC_symbol:SPTBN4 ; biolink:category biolink:Gene . OMIM:606216 a owl:Class ; @@ -217509,7 +225163,6 @@ OMIM:606216 a owl:Class ; PMID:10608886, PMID:14699060, PMID:16480945 ; - oboInOwl:hasDbXref UMLS:C1422427 ; oboInOwl:hasExactSynonym "MSRB1", "methionine sulfoxide reductase b1", "selenoprotein r", @@ -217517,7 +225170,9 @@ OMIM:606216 a owl:Class ; "selx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51734 ; - skos:exactMatch HGNC_symbol:MSRB1 ; + skos:exactMatch UMLS:C1422427, + HGNC:14133, + HGNC_symbol:MSRB1 ; biolink:category biolink:Gene . OMIM:606218 a owl:Class ; @@ -217525,13 +225180,14 @@ OMIM:606218 a owl:Class ; IAO:0000142 PMID:10608886, PMID:15534230, PMID:8986768 ; - oboInOwl:hasDbXref UMLS:C1426333 ; oboInOwl:hasExactSynonym "SEPHS2", "selenophosphate synthetase 2", "sps2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22928 ; - skos:exactMatch HGNC_symbol:SEPHS2 ; + skos:exactMatch UMLS:C1426333, + HGNC:19686, + HGNC_symbol:SEPHS2 ; biolink:category biolink:Gene . OMIM:606219 a owl:Class ; @@ -217542,14 +225198,15 @@ OMIM:606219 a owl:Class ; PMID:7876093, PMID:8756626, PMID:9521425 ; - oboInOwl:hasDbXref UMLS:C1420952 ; oboInOwl:hasExactSynonym "TRAP1", "hsp90-like protein", "tnfr-associated protein 1 heat-shock protein, 75-kd", "tumor necrosis factor receptor-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10131 ; - skos:exactMatch HGNC_symbol:TRAP1 ; + skos:exactMatch UMLS:C1420952, + HGNC:16264, + HGNC_symbol:TRAP1 ; biolink:category biolink:Gene . OMIM:606221 a owl:Class ; @@ -217565,14 +225222,15 @@ OMIM:606221 a owl:Class ; PMID:9806640 ; RO:0002525 CHR:9606chr17q12-q21.1 ; RO:0003303 OMIM:619437 ; - oboInOwl:hasDbXref UMLS:C1825590 ; oboInOwl:hasExactSynonym "IKZF3", "aiolos", "ikaros family zinc finger 3", "zinc finger protein, subfamily 1a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22806 ; - skos:exactMatch HGNC_symbol:IKZF3 ; + skos:exactMatch UMLS:C1825590, + HGNC:13178, + HGNC_symbol:IKZF3 ; biolink:category biolink:Gene . OMIM:606222 a owl:Class ; @@ -217580,13 +225238,14 @@ OMIM:606222 a owl:Class ; IAO:0000142 PMID:10810093, PMID:11132146, PMID:9809579 ; - oboInOwl:hasDbXref UMLS:C1416375 ; oboInOwl:hasExactSynonym "IGSF6", "downregulated by activation gene", "immunoglobulin superfamily, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10261 ; - skos:exactMatch HGNC_symbol:IGSF6 ; + skos:exactMatch UMLS:C1416375, + HGNC:5953, + HGNC_symbol:IGSF6 ; biolink:category biolink:Gene . OMIM:606223 a owl:Class ; @@ -217594,7 +225253,6 @@ OMIM:606223 a owl:Class ; IAO:0000142 PMID:7601280, PMID:8774743, PMID:9126987 ; - oboInOwl:hasDbXref UMLS:C1419032 ; oboInOwl:hasExactSynonym "PSMD2", "proteasome 26s subunit, non-atpase, 2", "proteasome 26s, subunit 2", @@ -217602,7 +225260,9 @@ OMIM:606223 a owl:Class ; "tumor necrosis factor receptor-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5708 ; - skos:exactMatch HGNC_symbol:PSMD2 ; + skos:exactMatch UMLS:C1419032, + HGNC:9559, + HGNC_symbol:PSMD2 ; biolink:category biolink:Gene . OMIM:606224 a owl:Class ; @@ -217617,7 +225277,6 @@ OMIM:606224 a owl:Class ; PMID:7818506 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:266120 ; - oboInOwl:hasDbXref UMLS:C1425102 ; oboInOwl:hasExactSynonym "5-prime-nucleotidase, cytosolic 3a", "NT5C3A", "nucleotidase, 5-prime, cytosolic 3", @@ -217625,7 +225284,9 @@ OMIM:606224 a owl:Class ; "uridine 5-prime monophosphate hydrolase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51251 ; - skos:exactMatch HGNC_symbol:NT5C3A ; + skos:exactMatch UMLS:C1425102, + HGNC:17820, + HGNC_symbol:NT5C3A ; biolink:category biolink:Gene . OMIM:606225 a owl:Class ; @@ -217638,13 +225299,14 @@ OMIM:606225 a owl:Class ; PMID:16229975, PMID:17108952, PMID:24214976 ; - oboInOwl:hasDbXref UMLS:C1422656 ; oboInOwl:hasExactSynonym "TAS1R1", "t1r1", "taste receptor iia 1, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80835 ; - skos:exactMatch HGNC_symbol:TAS1R1 ; + skos:exactMatch UMLS:C1422656, + HGNC:14448, + HGNC_symbol:TAS1R1 ; biolink:category biolink:Gene . OMIM:606226 a owl:Class ; @@ -217657,13 +225319,14 @@ OMIM:606226 a owl:Class ; PMID:16229975, PMID:16633339, PMID:17724330 ; - oboInOwl:hasDbXref UMLS:C1423042 ; oboInOwl:hasExactSynonym "TAS1R2", "t1r2", "taste receptor iia 1, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80834 ; - skos:exactMatch HGNC_symbol:TAS1R2 ; + skos:exactMatch UMLS:C1423042, + HGNC:14905, + HGNC_symbol:TAS1R2 ; biolink:category biolink:Gene . OMIM:606227 a owl:Class ; @@ -217681,12 +225344,13 @@ OMIM:606227 a owl:Class ; PMID:22605927 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:609549 ; - oboInOwl:hasDbXref UMLS:C1425327 ; oboInOwl:hasExactSynonym "MFRP", "membrane-type frizzled-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83552 ; - skos:exactMatch HGNC_symbol:MFRP ; + skos:exactMatch UMLS:C1425327, + HGNC:18121, + HGNC_symbol:MFRP ; biolink:category biolink:Gene . OMIM:606228 a owl:Class ; @@ -217701,7 +225365,6 @@ OMIM:606228 a owl:Class ; PMID:15766526, PMID:19536157, PMID:22722835 ; - oboInOwl:hasDbXref UMLS:C1414332 ; oboInOwl:hasExactSynonym "AGO1", "argonaute 1, risc catalytic component", "argonaute risc component 1", @@ -217710,7 +225373,9 @@ OMIM:606228 a owl:Class ; "gerp95" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26523 ; - skos:exactMatch HGNC_symbol:AGO1 ; + skos:exactMatch UMLS:C1414332, + HGNC:3262, + HGNC_symbol:AGO1 ; biolink:category biolink:Gene . OMIM:606229 a owl:Class ; @@ -217754,15 +225419,16 @@ OMIM:606229 a owl:Class ; PMID:8446173 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:619149 ; - oboInOwl:hasDbXref UMLS:C1414333, - UMLS:C5436892 ; oboInOwl:hasExactSynonym "AGO2", "argonaute 2, risc catalytic component", "argonaute risc component 2", "eukaryotic translation initiation factor 2c, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27161 ; - skos:exactMatch HGNC_symbol:AGO2 ; + skos:exactMatch UMLS:C1414333, + UMLS:C5436892, + HGNC:3263, + HGNC_symbol:AGO2 ; biolink:category biolink:Gene . OMIM:606230 a owl:Class ; @@ -217794,10 +225460,6 @@ OMIM:606230 a owl:Class ; PMID:8981954 ; RO:0002525 CHR:9606chr22q13.33 ; RO:0003303 OMIM:613950 ; - oboInOwl:hasDbXref UMLS:C1422550, - UMLS:C1853490, - UMLS:C3151380, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "SHANK3", "kiaa1650", "proline-rich synapse-associated protein 2", @@ -217805,14 +225467,18 @@ OMIM:606230 a owl:Class ; "sh3 and multiple ankyrin repeat domains 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85358 ; - skos:exactMatch HGNC_symbol:SHANK3 ; + skos:exactMatch UMLS:C1422550, + UMLS:C1853490, + UMLS:C3151380, + UMLS:C4015968, + HGNC:14294, + HGNC_symbol:SHANK3 ; biolink:category biolink:Gene . OMIM:606231 a owl:Class ; rdfs:label "APPL2" ; IAO:0000142 PMID:11431708, PMID:15016378 ; - oboInOwl:hasDbXref UMLS:C1853491 ; oboInOwl:hasExactSynonym "APPL2", "adaptor protein containing ph domain, ptb domain, and leucine zipper motif 2", "adaptor protein, phosphotyrosine interaction, ph domain, and leucine zipper-containing protein 2", @@ -217820,7 +225486,9 @@ OMIM:606231 a owl:Class ; "flj10659" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55198 ; - skos:exactMatch HGNC_symbol:APPL2 ; + skos:exactMatch UMLS:C1853491, + HGNC:18242, + HGNC_symbol:APPL2 ; biolink:category biolink:Gene . OMIM:606232 a owl:Class ; @@ -217851,26 +225519,27 @@ OMIM:606232 a owl:Class ; PMID:7719339, PMID:8981954, PMID:9832042 ; - oboInOwl:hasDbXref UMLS:C1853490, - ORPHA:48652 ; oboInOwl:hasExactSynonym "PHMDS", "chromosome 22q13.3 deletion syndrome", "phelan-mcdermid syndrome", "telomeric 22q13 monosomy syndrome" ; + skos:exactMatch UMLS:C1853490, + ORPHA:48652 ; biolink:category biolink:Disease . OMIM:606233 a owl:Class ; rdfs:label "PROK1" ; IAO:0000142 PMID:11259612, PMID:11528470 ; - oboInOwl:hasDbXref UMLS:C1425526 ; oboInOwl:hasExactSynonym "PROK1", "endocrine gland-derived vascular endothelial growth factor", "pk1", "prokineticin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84432 ; - skos:exactMatch HGNC_symbol:PROK1 ; + skos:exactMatch UMLS:C1425526, + HGNC:18454, + HGNC_symbol:PROK1 ; biolink:category biolink:Gene . OMIM:606234 a owl:Class ; @@ -217879,28 +225548,30 @@ OMIM:606234 a owl:Class ; PMID:22267813, PMID:26472910, PMID:30464345 ; - oboInOwl:hasDbXref UMLS:C1825589 ; oboInOwl:hasExactSynonym "IKZF2", "helios", "ikaros family zinc finger 2", "zinc finger protein, subfamily 1a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22807 ; - skos:exactMatch HGNC_symbol:IKZF2 ; + skos:exactMatch UMLS:C1825589, + HGNC:13177, + HGNC_symbol:IKZF2 ; biolink:category biolink:Gene . OMIM:606235 a owl:Class ; rdfs:label "TXNRD3" ; IAO:0000142 PMID:10455115, PMID:9923614 ; - oboInOwl:hasDbXref UMLS:C1427067 ; oboInOwl:hasExactSynonym "TXNRD3", "thioredoxin reductase 3", "tr2", "trxr3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114112 ; - skos:exactMatch HGNC_symbol:TXNRD3 ; + skos:exactMatch UMLS:C1427067, + HGNC:20667, + HGNC_symbol:TXNRD3 ; biolink:category biolink:Gene . OMIM:606236 a owl:Class ; @@ -217912,8 +225583,6 @@ OMIM:606236 a owl:Class ; PMID:23349634 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:606243 ; - oboInOwl:hasDbXref UMLS:C1422219, - UMLS:C3888091 ; oboInOwl:hasExactSynonym "ASPSCR1", "alveolar soft part sarcoma chromosome region, candidate 1", "aspl", @@ -217922,20 +225591,24 @@ OMIM:606236 a owl:Class ; "tether, containing ubx domain for glut4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79058 ; - skos:exactMatch HGNC_symbol:ASPSCR1 ; + skos:exactMatch UMLS:C1422219, + UMLS:C3888091, + HGNC:13825, + HGNC_symbol:ASPSCR1 ; biolink:category biolink:Gene . OMIM:606237 a owl:Class ; rdfs:label "TGFBRAP1" ; IAO:0000142 PMID:11278302, PMID:9545258 ; - oboInOwl:hasDbXref UMLS:C1424583 ; oboInOwl:hasExactSynonym "TGFBRAP1", "tgfbr-associated protein 1", "transforming growth factor-beta receptor-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9392 ; - skos:exactMatch HGNC_symbol:TGFBRAP1 ; + skos:exactMatch UMLS:C1424583, + HGNC:16836, + HGNC_symbol:TGFBRAP1 ; biolink:category biolink:Gene . OMIM:606238 a owl:Class ; @@ -217945,15 +225618,16 @@ OMIM:606238 a owl:Class ; PMID:32419556 ; RO:0002525 CHR:9606chr10q26.13 ; RO:0003303 OMIM:619130 ; - oboInOwl:hasDbXref UMLS:C1825591, - UMLS:C5436874 ; oboInOwl:hasExactSynonym "IKZF5", "ikaros family zinc finger 5", "pegasus", "zinc finger protein, subfamily 1a, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64376 ; - skos:exactMatch HGNC_symbol:IKZF5 ; + skos:exactMatch UMLS:C1825591, + UMLS:C5436874, + HGNC:14283, + HGNC_symbol:IKZF5 ; biolink:category biolink:Gene . OMIM:606239 a owl:Class ; @@ -217963,7 +225637,6 @@ OMIM:606239 a owl:Class ; PMID:15494726, PMID:19696312, PMID:23684987 ; - oboInOwl:hasDbXref UMLS:C1421861 ; oboInOwl:hasExactSynonym "IKZF4", "eos", "ikaros family zinc finger 4", @@ -217971,7 +225644,9 @@ OMIM:606239 a owl:Class ; "zinc finger protein, subfamily 1a, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64375 ; - skos:exactMatch HGNC_symbol:IKZF4 ; + skos:exactMatch UMLS:C1421861, + HGNC:13179, + HGNC_symbol:IKZF4 ; biolink:category biolink:Gene . OMIM:606241 a owl:Class ; @@ -218042,7 +225717,6 @@ OMIM:606241 a owl:Class ; PMID:9345104 ; RO:0002525 CHR:9606chr14q32.13 ; RO:0003303 OMIM:180295 ; - oboInOwl:hasDbXref UMLS:C1333218 ; oboInOwl:hasExactSynonym "DICER1", "dcr1", "dicer 1, ribonuclease 3", @@ -218053,7 +225727,9 @@ OMIM:606241 a owl:Class ; "kiaa0928" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23405 ; - skos:exactMatch HGNC_symbol:DICER1 ; + skos:exactMatch UMLS:C1333218, + HGNC:17098, + HGNC_symbol:DICER1 ; biolink:category biolink:Gene . OMIM:606244 a owl:Class ; @@ -218061,12 +225737,13 @@ OMIM:606244 a owl:Class ; IAO:0000142 PMID:10899310, PMID:10993906, PMID:20736164 ; - oboInOwl:hasDbXref UMLS:C1420452 ; oboInOwl:hasExactSynonym "STAM2", "signal-transducing adaptor molecule 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10254 ; - skos:exactMatch HGNC_symbol:STAM2 ; + skos:exactMatch UMLS:C1420452, + HGNC:11358, + HGNC_symbol:STAM2 ; biolink:category biolink:Gene . OMIM:606245 a owl:Class ; @@ -218093,8 +225770,6 @@ OMIM:606245 a owl:Class ; PMID:8590280 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:618786 ; - oboInOwl:hasDbXref UMLS:C1539902, - UMLS:C5394073 ; oboInOwl:hasExactSynonym "SUZ12", "jjaz1/jazf1 fusion gene", "joined to jazf1", @@ -218103,7 +225778,10 @@ OMIM:606245 a owl:Class ; "suz12 polycomb repressive complex 2 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23512 ; - skos:exactMatch HGNC_symbol:SUZ12 ; + skos:exactMatch UMLS:C1539902, + UMLS:C5394073, + HGNC:17101, + HGNC_symbol:SUZ12 ; biolink:category biolink:Gene . OMIM:606246 a owl:Class ; @@ -218113,8 +225791,6 @@ OMIM:606246 a owl:Class ; PMID:18077430, PMID:18264096, PMID:18772439 ; - oboInOwl:hasDbXref UMLS:C1825635, - UMLS:C2676350 ; oboInOwl:hasExactSynonym "JAZF1", "jazf zinc finger 1", "jazf1/jjaz1 fusion gene", @@ -218122,7 +225798,10 @@ OMIM:606246 a owl:Class ; "tak1-interacting protein 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221895 ; - skos:exactMatch HGNC_symbol:JAZF1 ; + skos:exactMatch UMLS:C1825635, + UMLS:C2676350, + HGNC:28917, + HGNC_symbol:JAZF1 ; biolink:category biolink:Gene . OMIM:606247 a owl:Class ; @@ -218138,25 +225817,27 @@ OMIM:606247 a owl:Class ; PMID:23542699 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:614261 ; - oboInOwl:hasDbXref UMLS:C1424659 ; oboInOwl:hasExactSynonym "STAMBP", "associated molecule with the sh3 domain of stam", "stam-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10617 ; - skos:exactMatch HGNC_symbol:STAMBP ; + skos:exactMatch UMLS:C1424659, + HGNC:16950, + HGNC_symbol:STAMBP ; biolink:category biolink:Gene . OMIM:606248 a owl:Class ; rdfs:label "QPRT" ; IAO:0000142 PMID:9473669 ; - oboInOwl:hasDbXref UMLS:C1419184 ; oboInOwl:hasExactSynonym "QPRT", "qprtase", "quinolinate phosphoribosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23475 ; - skos:exactMatch HGNC_symbol:QPRT ; + skos:exactMatch UMLS:C1419184, + HGNC:9755, + HGNC_symbol:QPRT ; biolink:category biolink:Gene . OMIM:606249 a owl:Class ; @@ -218165,27 +225846,29 @@ OMIM:606249 a owl:Class ; PMID:11214970, PMID:11280764, PMID:21733846 ; - oboInOwl:hasDbXref UMLS:C1538111 ; oboInOwl:hasExactSynonym "WNK2", "kiaa1760", "prkwnk2", "protein kinase, lysine-deficient 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65268 ; - skos:exactMatch HGNC_symbol:WNK2 ; + skos:exactMatch UMLS:C1538111, + HGNC:14542, + HGNC_symbol:WNK2 ; biolink:category biolink:Gene . OMIM:606250 a owl:Class ; rdfs:label "GALNT8" ; IAO:0000142 PMID:10767557, PMID:22171061 ; - oboInOwl:hasDbXref UMLS:C1414958 ; oboInOwl:hasExactSynonym "GALNT8", "galnac transferase 8", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26290 ; - skos:exactMatch HGNC_symbol:GALNT8 ; + skos:exactMatch UMLS:C1414958, + HGNC:4130, + HGNC_symbol:GALNT8 ; biolink:category biolink:Gene . OMIM:606251 a owl:Class ; @@ -218193,13 +225876,14 @@ OMIM:606251 a owl:Class ; IAO:0000142 PMID:10978536, PMID:20977886, PMID:22171061 ; - oboInOwl:hasDbXref UMLS:C1414959 ; oboInOwl:hasExactSynonym "GALNT9", "galnac transferase 9", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50614 ; - skos:exactMatch HGNC_symbol:GALNT9 ; + skos:exactMatch UMLS:C1414959, + HGNC:4131, + HGNC_symbol:GALNT9 ; biolink:category biolink:Gene . OMIM:606252 a owl:Class ; @@ -218218,17 +225902,18 @@ OMIM:606252 a owl:Class ; PMID:30787108 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:607948 ; - oboInOwl:hasDbXref UMLS:C1424810, - UMLS:C1969665, - UMLS:C1970686, - UMLS:C2720293, - UMLS:C3280646 ; oboInOwl:hasExactSynonym "TIRAP", "myd88 adaptor-like", "tir domain-containing adaptor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114609 ; - skos:exactMatch HGNC_symbol:TIRAP ; + skos:exactMatch UMLS:C1424810, + UMLS:C1969665, + UMLS:C1970686, + UMLS:C2720293, + UMLS:C3280646, + HGNC:17192, + HGNC_symbol:TIRAP ; biolink:category biolink:Gene . OMIM:606253 a owl:Class ; @@ -218240,13 +225925,14 @@ OMIM:606254 a owl:Class ; IAO:0000142 PMID:10945981, PMID:27645994, PMID:9535873 ; - oboInOwl:hasDbXref UMLS:C1853479 ; oboInOwl:hasExactSynonym "SELENOF", "selenoprotein f", "selenoprotein, 15-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9403 ; - skos:exactMatch HGNC_symbol:SELENOF ; + skos:exactMatch UMLS:C1853479, + HGNC:17705, + HGNC_symbol:SELENOF ; biolink:category biolink:Gene . OMIM:606255 a owl:Class ; @@ -218270,10 +225956,10 @@ OMIM:606255 a owl:Class ; PMID:25853659, PMID:28146470 ; RO:0002525 CHR:9606chr6q24-q25 ; - oboInOwl:hasDbXref UMLS:C1853477, - UMLS:C1853478 ; oboInOwl:hasExactSynonym "stature as a quantitative trait", "stature quantitative trait locus 1" ; + skos:exactMatch UMLS:C1853477, + UMLS:C1853478 ; biolink:category biolink:Disease . OMIM:606259 a owl:Class ; @@ -218281,13 +225967,14 @@ OMIM:606259 a owl:Class ; IAO:0000142 PMID:10850410, PMID:18211900, PMID:8640802 ; - oboInOwl:hasDbXref UMLS:C1332450 ; oboInOwl:hasExactSynonym "BRMS1", "breast cancer metastasis suppressor 1", "brms1 transcriptional repressor and anoikis regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25855 ; - skos:exactMatch HGNC_symbol:BRMS1 ; + skos:exactMatch UMLS:C1332450, + HGNC:17262, + HGNC_symbol:BRMS1 ; biolink:category biolink:Gene . OMIM:606260 a owl:Class ; @@ -218297,13 +225984,14 @@ OMIM:606260 a owl:Class ; PMID:11472061, PMID:11896452, PMID:17855449 ; - oboInOwl:hasDbXref UMLS:C1422778 ; oboInOwl:hasExactSynonym "MTMR9", "myotubularin-related protein 8, formerly", "myotubularin-related protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:66036 ; - skos:exactMatch HGNC_symbol:MTMR9 ; + skos:exactMatch UMLS:C1422778, + HGNC:14596, + HGNC_symbol:MTMR9 ; biolink:category biolink:Gene . OMIM:606261 a owl:Class ; @@ -218311,7 +225999,6 @@ OMIM:606261 a owl:Class ; IAO:0000142 PMID:10022609, PMID:11266510, PMID:7984147 ; - oboInOwl:hasDbXref UMLS:C1417884 ; oboInOwl:hasExactSynonym "NUDT6", "asfgf2", "fibroblast growth factor 2, antisense", @@ -218323,7 +226010,9 @@ OMIM:606261 a owl:Class ; "nudix motif 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11162 ; - skos:exactMatch HGNC_symbol:NUDT6 ; + skos:exactMatch UMLS:C1417884, + HGNC:8053, + HGNC_symbol:NUDT6 ; biolink:category biolink:Gene . OMIM:606262 a owl:Class ; @@ -218357,7 +226046,6 @@ OMIM:606264 a owl:Class ; PMID:23684988 ; RO:0002525 CHR:9606chr12p13.2 ; RO:0003303 OMIM:614079 ; - oboInOwl:hasDbXref UMLS:C1539102 ; oboInOwl:hasExactSynonym "CLEC7A", "beta-glucan receptor", "c-type lectin domain family 7, member a", @@ -218366,7 +226054,9 @@ OMIM:606264 a owl:Class ; "lectin, c-type, superfamily member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64581 ; - skos:exactMatch HGNC_symbol:CLEC7A ; + skos:exactMatch UMLS:C1539102, + HGNC:14558, + HGNC_symbol:CLEC7A ; biolink:category biolink:Gene . OMIM:606265 a owl:Class ; @@ -218377,7 +226067,6 @@ OMIM:606265 a owl:Class ; PMID:20133580, PMID:24463511, PMID:9225980 ; - oboInOwl:hasDbXref UMLS:C1420836 ; oboInOwl:hasExactSynonym "EP400", "cagh32", "domino, drosophila, homolog of", @@ -218388,18 +226077,21 @@ OMIM:606265 a owl:Class ; "trinucleotide repeat-containing gene 12, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57634 ; - skos:exactMatch HGNC_symbol:EP400 ; + skos:exactMatch UMLS:C1420836, + HGNC:11958, + HGNC_symbol:EP400 ; biolink:category biolink:Gene . OMIM:606266 a owl:Class ; rdfs:label "BMF" ; IAO:0000142 PMID:11546872 ; - oboInOwl:hasDbXref UMLS:C1428348 ; oboInOwl:hasExactSynonym "BMF", "bcl2-modifying factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90427 ; - skos:exactMatch HGNC_symbol:BMF ; + skos:exactMatch UMLS:C1428348, + HGNC:24132, + HGNC_symbol:BMF ; biolink:category biolink:Gene . OMIM:606267 a owl:Class ; @@ -218407,12 +226099,13 @@ OMIM:606267 a owl:Class ; IAO:0000142 PMID:10500199, PMID:15371327, PMID:21654806 ; - oboInOwl:hasDbXref UMLS:C1424139 ; oboInOwl:hasExactSynonym "WNT16", "wingless-type mmtv integration site family, member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51384 ; - skos:exactMatch HGNC_symbol:WNT16 ; + skos:exactMatch UMLS:C1424139, + HGNC:16267, + HGNC_symbol:WNT16 ; biolink:category biolink:Gene . OMIM:606268 a owl:Class ; @@ -218430,15 +226123,16 @@ OMIM:606268 a owl:Class ; PMID:30569517 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:150400 ; - oboInOwl:hasDbXref UMLS:C0796093, - UMLS:C1422222, - UMLS:C1835492, - UMLS:C1857069 ; oboInOwl:hasExactSynonym "WNT10A", "wingless-type mmtv integration site family, member 10a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80326 ; - skos:exactMatch HGNC_symbol:WNT10A ; + skos:exactMatch UMLS:C0796093, + UMLS:C1422222, + UMLS:C1835492, + UMLS:C1857069, + HGNC:13829, + HGNC_symbol:WNT10A ; biolink:category biolink:Gene . OMIM:606269 a owl:Class ; @@ -218453,14 +226147,15 @@ OMIM:606269 a owl:Class ; PMID:19666484 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:613494 ; - oboInOwl:hasDbXref UMLS:C1425064 ; oboInOwl:hasExactSynonym "B cell-activating factor receptor", "TNFRSF13C", "baff receptor", "tumor necrosis factor receptor superfamily, member 13c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115650 ; - skos:exactMatch HGNC_symbol:TNFRSF13C ; + skos:exactMatch UMLS:C1425064, + HGNC:17755, + HGNC_symbol:TNFRSF13C ; biolink:category biolink:Gene . OMIM:606270 a owl:Class ; @@ -218471,13 +226166,14 @@ OMIM:606270 a owl:Class ; PMID:15728506, PMID:15860593, PMID:31671203 ; - oboInOwl:hasDbXref UMLS:C1423634 ; oboInOwl:hasExactSynonym "TLR10", "tlr11", "toll-like receptor 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81793 ; - skos:exactMatch HGNC_symbol:TLR10 ; + skos:exactMatch UMLS:C1423634, + HGNC:15634, + HGNC_symbol:TLR10 ; biolink:category biolink:Gene . OMIM:606271 a owl:Class ; @@ -218486,12 +226182,13 @@ OMIM:606271 a owl:Class ; PMID:1973210 ; RO:0002525 CHR:9606chr1q42.2 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1414055 ; oboInOwl:hasExactSynonym "DISC2", "disrupted 1n schizophrenia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27184 ; - skos:exactMatch HGNC_symbol:DISC2 ; + skos:exactMatch UMLS:C1414055, + HGNC:2889, + HGNC_symbol:DISC2 ; biolink:category biolink:Gene . OMIM:606272 a owl:Class ; @@ -218518,12 +226215,13 @@ OMIM:606272 a owl:Class ; PMID:9792862 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:219750 ; - oboInOwl:hasDbXref UMLS:C1413803 ; oboInOwl:hasExactSynonym "CTNS", "cystinosin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1497 ; - skos:exactMatch HGNC_symbol:CTNS ; + skos:exactMatch UMLS:C1413803, + HGNC:2518, + HGNC_symbol:CTNS ; biolink:category biolink:Gene . OMIM:606273 a owl:Class ; @@ -218538,14 +226236,15 @@ OMIM:606273 a owl:Class ; PMID:8809057 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:603896 ; - oboInOwl:hasDbXref UMLS:C1414329 ; oboInOwl:hasExactSynonym "EIF2B3", "eif2b-gamma", "eukaryotic translation initiation factor 2b, gamma", "eukaryotic translation initiation factor 2b, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8891 ; - skos:exactMatch HGNC_symbol:EIF2B3 ; + skos:exactMatch UMLS:C1414329, + HGNC:3259, + HGNC_symbol:EIF2B3 ; biolink:category biolink:Gene . OMIM:606274 a owl:Class ; @@ -218553,13 +226252,14 @@ OMIM:606274 a owl:Class ; IAO:0000142 PMID:11124537, PMID:16341016, PMID:24463883 ; - oboInOwl:hasDbXref UMLS:C1413757, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "CSNK1G1", "casein kinase i, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53944 ; - skos:exactMatch HGNC_symbol:CSNK1G1 ; + skos:exactMatch UMLS:C1413757, + UMLS:C2986382, + HGNC:2454, + HGNC_symbol:CSNK1G1 ; biolink:category biolink:Gene . OMIM:606275 a owl:Class ; @@ -218571,14 +226271,15 @@ OMIM:606276 a owl:Class ; IAO:0000142 PMID:11139377, PMID:17074475, PMID:21817055 ; - oboInOwl:hasDbXref UMLS:C1423022 ; oboInOwl:hasExactSynonym "CRTAC1", "cartilage acidic protein 1", "chondrocyte-expressed protein, 68-kd", "lateral olfactory tract usher substance" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55118 ; - skos:exactMatch HGNC_symbol:CRTAC1 ; + skos:exactMatch UMLS:C1423022, + HGNC:14882, + HGNC_symbol:CRTAC1 ; biolink:category biolink:Gene . OMIM:606277 a owl:Class ; @@ -218587,12 +226288,13 @@ OMIM:606277 a owl:Class ; PMID:11441107, PMID:19444506, PMID:22778396 ; - oboInOwl:hasDbXref UMLS:C1336655 ; oboInOwl:hasExactSynonym "TOLLIP", "toll-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54472 ; - skos:exactMatch HGNC_symbol:TOLLIP ; + skos:exactMatch UMLS:C1336655, + HGNC:16476, + HGNC_symbol:TOLLIP ; biolink:category biolink:Gene . OMIM:606278 a owl:Class ; @@ -218619,7 +226321,6 @@ OMIM:606278 a owl:Class ; PMID:23104009, PMID:31246581, PMID:8797862 ; - oboInOwl:hasDbXref UMLS:C1333533 ; oboInOwl:hasExactSynonym "FBXW7", "archipelago, drosophila, homolog of", "cdc4, s. cerevisiae, homolog of", @@ -218630,45 +226331,50 @@ OMIM:606278 a owl:Class ; "sel10, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55294 ; - skos:exactMatch HGNC_symbol:FBXW7 ; + skos:exactMatch UMLS:C1333533, + HGNC:16712, + HGNC_symbol:FBXW7 ; biolink:category biolink:Gene . OMIM:606279 a owl:Class ; rdfs:label "ABI3BP" ; IAO:0000142 PMID:11501947 ; - oboInOwl:hasDbXref UMLS:C1538899 ; oboInOwl:hasExactSynonym "ABI3BP", "abi family member 3 binding protein", "target of nesh-sh3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25890 ; - skos:exactMatch HGNC_symbol:ABI3BP ; + skos:exactMatch UMLS:C1538899, + HGNC:17265, + HGNC_symbol:ABI3BP ; biolink:category biolink:Gene . OMIM:606280 a owl:Class ; rdfs:label "NCAPG" ; IAO:0000142 PMID:10910072, PMID:15662014 ; - oboInOwl:hasDbXref UMLS:C1826382 ; oboInOwl:hasExactSynonym "NCAPG", "chromosome-associated protein g", "condensin 1 complex, non-smc subunit g", "non-smc condensin 1 complex subunit g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64151 ; - skos:exactMatch HGNC_symbol:NCAPG ; + skos:exactMatch UMLS:C1826382, + HGNC:24304, + HGNC_symbol:NCAPG ; biolink:category biolink:Gene . OMIM:606281 a owl:Class ; rdfs:label "RAB38" ; IAO:0000142 PMID:10910072, PMID:11917121 ; - oboInOwl:hasDbXref UMLS:C1419205 ; oboInOwl:hasExactSynonym "RAB38", "ras-associated protein rab38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23682 ; - skos:exactMatch HGNC_symbol:RAB38 ; + skos:exactMatch UMLS:C1419205, + HGNC:9776, + HGNC_symbol:RAB38 ; biolink:category biolink:Gene . OMIM:606283 a owl:Class ; @@ -218680,13 +226386,14 @@ OMIM:606283 a owl:Class ; PMID:16682971, PMID:21280075, PMID:28827148 ; - oboInOwl:hasDbXref UMLS:C1539803 ; oboInOwl:hasExactSynonym "SORCS1", "sorcs receptor 1", "sortilin-related vps10 domain-containing receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114815 ; - skos:exactMatch HGNC_symbol:SORCS1 ; + skos:exactMatch UMLS:C1539803, + HGNC:16697, + HGNC_symbol:SORCS1 ; biolink:category biolink:Gene . OMIM:606284 a owl:Class ; @@ -218696,14 +226403,15 @@ OMIM:606284 a owl:Class ; PMID:11165493, PMID:11499680, PMID:28827148 ; - oboInOwl:hasDbXref UMLS:C1539804 ; oboInOwl:hasExactSynonym "SORCS2", "kiaa1329", "sorcs receptor 2", "sortilin-related vps10 domain-containing receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57537 ; - skos:exactMatch HGNC_symbol:SORCS2 ; + skos:exactMatch UMLS:C1539804, + HGNC:16698, + HGNC_symbol:SORCS2 ; biolink:category biolink:Gene . OMIM:606285 a owl:Class ; @@ -218718,28 +226426,30 @@ OMIM:606285 a owl:Class ; PMID:28827148, PMID:29440124, PMID:30586538 ; - oboInOwl:hasDbXref UMLS:C1539805, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "SORCS3", "kiaa1059", "sorcs receptor 3", "sortilin-related vps10 domain-containing receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22986 ; - skos:exactMatch HGNC_symbol:SORCS3 ; + skos:exactMatch UMLS:C1539805, + UMLS:C2986382, + HGNC:16699, + HGNC_symbol:SORCS3 ; biolink:category biolink:Gene . OMIM:606286 a owl:Class ; rdfs:label "DDX43" ; IAO:0000142 PMID:10919659 ; - oboInOwl:hasDbXref UMLS:C1425700 ; oboInOwl:hasExactSynonym "DDX43", "dead-box helicase 43", "dead/h-box 43", "helicase antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55510 ; - skos:exactMatch HGNC_symbol:DDX43 ; + skos:exactMatch UMLS:C1425700, + HGNC:18677, + HGNC_symbol:DDX43 ; biolink:category biolink:Gene . OMIM:606287 a owl:Class ; @@ -218750,52 +226460,56 @@ OMIM:606288 a owl:Class ; rdfs:label "PCDHGA1" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418345 ; oboInOwl:hasExactSynonym "PCDHGA1", "pcdh-gamma-a1", "protocadherin-gamma, subfamily a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56114 ; - skos:exactMatch HGNC_symbol:PCDHGA1 ; + skos:exactMatch UMLS:C1418345, + HGNC:8696, + HGNC_symbol:PCDHGA1 ; biolink:category biolink:Gene . OMIM:606289 a owl:Class ; rdfs:label "PCDHGA2" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418349 ; oboInOwl:hasExactSynonym "PCDHGA2", "pcdh-gamma-a2", "protocadherin-gamma, subfamily a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56113 ; - skos:exactMatch HGNC_symbol:PCDHGA2 ; + skos:exactMatch UMLS:C1418349, + HGNC:8700, + HGNC_symbol:PCDHGA2 ; biolink:category biolink:Gene . OMIM:606290 a owl:Class ; rdfs:label "PCDHGA3" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418350 ; oboInOwl:hasExactSynonym "PCDHGA3", "pcdh-gamma-a3", "protocadherin-gamma, subfamily a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56112 ; - skos:exactMatch HGNC_symbol:PCDHGA3 ; + skos:exactMatch UMLS:C1418350, + HGNC:8701, + HGNC_symbol:PCDHGA3 ; biolink:category biolink:Gene . OMIM:606291 a owl:Class ; rdfs:label "PCDHGA4" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418351 ; oboInOwl:hasExactSynonym "PCDHGA4", "pcdh-gamma-a4", "protocadherin-gamma, subfamily a, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56111 ; - skos:exactMatch HGNC_symbol:PCDHGA4 ; + skos:exactMatch UMLS:C1418351, + HGNC:8702, + HGNC_symbol:PCDHGA4 ; biolink:category biolink:Gene . OMIM:606292 a owl:Class ; @@ -218803,39 +226517,42 @@ OMIM:606292 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:9182820 ; - oboInOwl:hasDbXref UMLS:C1418352 ; oboInOwl:hasExactSynonym "PCDHGA5", "pcdh-gamma-a5", "protocadherin-gamma, subfamily a, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56110 ; - skos:exactMatch HGNC_symbol:PCDHGA5 ; + skos:exactMatch UMLS:C1418352, + HGNC:8703, + HGNC_symbol:PCDHGA5 ; biolink:category biolink:Gene . OMIM:606293 a owl:Class ; rdfs:label "PCDHGA6" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418353 ; oboInOwl:hasExactSynonym "PCDHGA6", "pcdh-gamma-a6", "protocadherin-gamma, subfamily a, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56109 ; - skos:exactMatch HGNC_symbol:PCDHGA6 ; + skos:exactMatch UMLS:C1418353, + HGNC:8704, + HGNC_symbol:PCDHGA6 ; biolink:category biolink:Gene . OMIM:606294 a owl:Class ; rdfs:label "PCDHGA7" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418354 ; oboInOwl:hasExactSynonym "PCDHGA7", "pcdh-gamma-a7", "protocadherin-gamma, subfamily a, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56108 ; - skos:exactMatch HGNC_symbol:PCDHGA7 ; + skos:exactMatch UMLS:C1418354, + HGNC:8705, + HGNC_symbol:PCDHGA7 ; biolink:category biolink:Gene . OMIM:606295 a owl:Class ; @@ -218843,118 +226560,127 @@ OMIM:606295 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1418355 ; oboInOwl:hasExactSynonym "PCDHGA8", "kiaa0327", "pcdh-gamma-a8", "protocadherin-gamma, subfamily a, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9708 ; - skos:exactMatch HGNC_symbol:PCDHGA8 ; + skos:exactMatch UMLS:C1418355, + HGNC:8706, + HGNC_symbol:PCDHGA8 ; biolink:category biolink:Gene . OMIM:606296 a owl:Class ; rdfs:label "PCDHGA9" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418356 ; oboInOwl:hasExactSynonym "PCDHGA9", "pcdh-gamma-a9", "protocadherin-gamma, subfamily a, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56107 ; - skos:exactMatch HGNC_symbol:PCDHGA9 ; + skos:exactMatch UMLS:C1418356, + HGNC:8707, + HGNC_symbol:PCDHGA9 ; biolink:category biolink:Gene . OMIM:606297 a owl:Class ; rdfs:label "PCDHGA10" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418346 ; oboInOwl:hasExactSynonym "PCDHGA10", "pcdh-gamma-a10", "protocadherin-gamma, subfamily a, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56106 ; - skos:exactMatch HGNC_symbol:PCDHGA10 ; + skos:exactMatch UMLS:C1418346, + HGNC:8697, + HGNC_symbol:PCDHGA10 ; biolink:category biolink:Gene . OMIM:606298 a owl:Class ; rdfs:label "PCDHGA11" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418347 ; oboInOwl:hasExactSynonym "PCDHGA11", "pcdh-gamma-a11", "protocadherin-gamma, subfamily a, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56105 ; - skos:exactMatch HGNC_symbol:PCDHGA11 ; + skos:exactMatch UMLS:C1418347, + HGNC:8698, + HGNC_symbol:PCDHGA11 ; biolink:category biolink:Gene . OMIM:606299 a owl:Class ; rdfs:label "PCDHGB1" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418357 ; oboInOwl:hasExactSynonym "PCDHGB1", "pcdh-gamma-b1", "protocadherin-gamma, subfamily b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56104 ; - skos:exactMatch HGNC_symbol:PCDHGB1 ; + skos:exactMatch UMLS:C1418357, + HGNC:8708, + HGNC_symbol:PCDHGB1 ; biolink:category biolink:Gene . OMIM:606300 a owl:Class ; rdfs:label "PCDHGB2" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418358 ; oboInOwl:hasExactSynonym "PCDHGB2", "pcdh-gamma-b2", "protocadherin-gamma, subfamily b, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56103 ; - skos:exactMatch HGNC_symbol:PCDHGB2 ; + skos:exactMatch UMLS:C1418358, + HGNC:8709, + HGNC_symbol:PCDHGB2 ; biolink:category biolink:Gene . OMIM:606301 a owl:Class ; rdfs:label "PCDHGB3" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418359 ; oboInOwl:hasExactSynonym "PCDHGB3", "pcdh-gamma-b3", "protocadherin-gamma, subfamily b, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56102 ; - skos:exactMatch HGNC_symbol:PCDHGB3 ; + skos:exactMatch UMLS:C1418359, + HGNC:8710, + HGNC_symbol:PCDHGB3 ; biolink:category biolink:Gene . OMIM:606302 a owl:Class ; rdfs:label "PCDHGB5" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418361 ; oboInOwl:hasExactSynonym "PCDHGB5", "pcdh-gamma-b5", "protocadherin-gamma, subfamily b, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56101 ; - skos:exactMatch HGNC_symbol:PCDHGB5 ; + skos:exactMatch UMLS:C1418361, + HGNC:8712, + HGNC_symbol:PCDHGB5 ; biolink:category biolink:Gene . OMIM:606303 a owl:Class ; rdfs:label "PCDHGB6" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418362 ; oboInOwl:hasExactSynonym "PCDHGB6", "pcdh-gamma-b6", "protocadherin-gamma, subfamily b, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56100 ; - skos:exactMatch HGNC_symbol:PCDHGB6 ; + skos:exactMatch UMLS:C1418362, + HGNC:8713, + HGNC_symbol:PCDHGB6 ; biolink:category biolink:Gene . OMIM:606304 a owl:Class ; @@ -218962,39 +226688,42 @@ OMIM:606304 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:9182820 ; - oboInOwl:hasDbXref UMLS:C1418363 ; oboInOwl:hasExactSynonym "PCDHGB7", "pcdh-gamma-b7", "protocadherin-gamma, subfamily b, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56099 ; - skos:exactMatch HGNC_symbol:PCDHGB7 ; + skos:exactMatch UMLS:C1418363, + HGNC:8714, + HGNC_symbol:PCDHGB7 ; biolink:category biolink:Gene . OMIM:606305 a owl:Class ; rdfs:label "PCDHGC4" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418366 ; oboInOwl:hasExactSynonym "PCDHGC4", "pcdh-gamma-c4", "protocadherin-gamma, subfamily c, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56098 ; - skos:exactMatch HGNC_symbol:PCDHGC4 ; + skos:exactMatch UMLS:C1418366, + HGNC:8717, + HGNC_symbol:PCDHGC4 ; biolink:category biolink:Gene . OMIM:606306 a owl:Class ; rdfs:label "PCDHGC5" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418367 ; oboInOwl:hasExactSynonym "PCDHGC5", "pcdh-gamma-c5", "protocadherin-gamma, subfamily c, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56097 ; - skos:exactMatch HGNC_symbol:PCDHGC5 ; + skos:exactMatch UMLS:C1418367, + HGNC:8718, + HGNC_symbol:PCDHGC5 ; biolink:category biolink:Gene . OMIM:606307 a owl:Class ; @@ -219002,13 +226731,14 @@ OMIM:606307 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418312 ; oboInOwl:hasExactSynonym "PCDHA1", "pcdh-alpha-1", "protocadherin-alpha 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56147 ; - skos:exactMatch HGNC_symbol:PCDHA1 ; + skos:exactMatch UMLS:C1418312, + HGNC:8663, + HGNC_symbol:PCDHA1 ; biolink:category biolink:Gene . OMIM:606308 a owl:Class ; @@ -219016,13 +226746,14 @@ OMIM:606308 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418317 ; oboInOwl:hasExactSynonym "PCDHA2", "pcdh-alpha-2", "protocadherin-alpha 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56146 ; - skos:exactMatch HGNC_symbol:PCDHA2 ; + skos:exactMatch UMLS:C1418317, + HGNC:8668, + HGNC_symbol:PCDHA2 ; biolink:category biolink:Gene . OMIM:606309 a owl:Class ; @@ -219031,13 +226762,14 @@ OMIM:606309 a owl:Class ; PMID:11230163, PMID:17172445, PMID:23192925 ; - oboInOwl:hasDbXref UMLS:C1418318 ; oboInOwl:hasExactSynonym "PCDHA3", "pcdh-alpha-3", "protocadherin-alpha 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56145 ; - skos:exactMatch HGNC_symbol:PCDHA3 ; + skos:exactMatch UMLS:C1418318, + HGNC:8669, + HGNC_symbol:PCDHA3 ; biolink:category biolink:Gene . OMIM:606310 a owl:Class ; @@ -219047,14 +226779,15 @@ OMIM:606310 a owl:Class ; PMID:11230163, PMID:17172445, PMID:9655502 ; - oboInOwl:hasDbXref UMLS:C1418319 ; oboInOwl:hasExactSynonym "PCDHA4", "cadherin-related neuronal receptor 1, mouse, homolog of", "pcdh-alpha-4", "protocadherin-alpha 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56144 ; - skos:exactMatch HGNC_symbol:PCDHA4 ; + skos:exactMatch UMLS:C1418319, + HGNC:8670, + HGNC_symbol:PCDHA4 ; biolink:category biolink:Gene . OMIM:606311 a owl:Class ; @@ -219062,14 +226795,15 @@ OMIM:606311 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418320 ; oboInOwl:hasExactSynonym "PCDHA5", "cadherin-related neuronal receptor 6, mouse, homolog of", "pcdh-alpha-5", "protocadherin-alpha 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56143 ; - skos:exactMatch HGNC_symbol:PCDHA5 ; + skos:exactMatch UMLS:C1418320, + HGNC:8671, + HGNC_symbol:PCDHA5 ; biolink:category biolink:Gene . OMIM:606312 a owl:Class ; @@ -219077,14 +226811,15 @@ OMIM:606312 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418321 ; oboInOwl:hasExactSynonym "PCDHA6", "cadherin-related neuronal receptor 2, mouse, homolog of", "pcdh-alpha-6", "protocadherin-alpha 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56142 ; - skos:exactMatch HGNC_symbol:PCDHA6 ; + skos:exactMatch UMLS:C1418321, + HGNC:8672, + HGNC_symbol:PCDHA6 ; biolink:category biolink:Gene . OMIM:606313 a owl:Class ; @@ -219092,14 +226827,15 @@ OMIM:606313 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418322 ; oboInOwl:hasExactSynonym "PCDHA7", "cadherin-related neuronal receptor 4, mouse, homolog of", "pcdh-alpha-7", "protocadherin-alpha 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56141 ; - skos:exactMatch HGNC_symbol:PCDHA7 ; + skos:exactMatch UMLS:C1418322, + HGNC:8673, + HGNC_symbol:PCDHA7 ; biolink:category biolink:Gene . OMIM:606314 a owl:Class ; @@ -219108,13 +226844,14 @@ OMIM:606314 a owl:Class ; PMID:11230163, PMID:12577201, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418323 ; oboInOwl:hasExactSynonym "PCDHA8", "pcdh-alpha-8", "protocadherin-alpha 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56140 ; - skos:exactMatch HGNC_symbol:PCDHA8 ; + skos:exactMatch UMLS:C1418323, + HGNC:8674, + HGNC_symbol:PCDHA8 ; biolink:category biolink:Gene . OMIM:606315 a owl:Class ; @@ -219125,14 +226862,15 @@ OMIM:606315 a owl:Class ; PMID:12577201, PMID:17172445, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1418324 ; oboInOwl:hasExactSynonym "PCDHA9", "kiaa0345", "pcdh-alpha-9", "protocadherin-alpha 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9752 ; - skos:exactMatch HGNC_symbol:PCDHA9 ; + skos:exactMatch UMLS:C1418324, + HGNC:8675, + HGNC_symbol:PCDHA9 ; biolink:category biolink:Gene . OMIM:606316 a owl:Class ; @@ -219141,14 +226879,15 @@ OMIM:606316 a owl:Class ; PMID:11230163, PMID:12577201, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418313 ; oboInOwl:hasExactSynonym "PCDHA10", "cadherin-related neuronal receptor 8, mouse, homolog of", "pcdh-alpha-10", "protocadherin-alpha 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56139 ; - skos:exactMatch HGNC_symbol:PCDHA10 ; + skos:exactMatch UMLS:C1418313, + HGNC:8664, + HGNC_symbol:PCDHA10 ; biolink:category biolink:Gene . OMIM:606317 a owl:Class ; @@ -219156,14 +226895,15 @@ OMIM:606317 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418314 ; oboInOwl:hasExactSynonym "PCDHA11", "cadherin-related neuronal receptor 7, mouse, homolog of", "pcdh-alpha-11", "protocadherin-alpha 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56138 ; - skos:exactMatch HGNC_symbol:PCDHA11 ; + skos:exactMatch UMLS:C1418314, + HGNC:8665, + HGNC_symbol:PCDHA11 ; biolink:category biolink:Gene . OMIM:606318 a owl:Class ; @@ -219171,13 +226911,14 @@ OMIM:606318 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418315 ; oboInOwl:hasExactSynonym "PCDHA12", "pcdh-alpha-12", "protocadherin-alpha 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56137 ; - skos:exactMatch HGNC_symbol:PCDHA12 ; + skos:exactMatch UMLS:C1418315, + HGNC:8666, + HGNC_symbol:PCDHA12 ; biolink:category biolink:Gene . OMIM:606319 a owl:Class ; @@ -219185,14 +226926,15 @@ OMIM:606319 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418316 ; oboInOwl:hasExactSynonym "PCDHA13", "cadherin-related neuronal receptor 5, mouse, homolog of", "pcdh-alpha-13", "protocadherin-alpha 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56136 ; - skos:exactMatch HGNC_symbol:PCDHA13 ; + skos:exactMatch UMLS:C1418316, + HGNC:8667, + HGNC_symbol:PCDHA13 ; biolink:category biolink:Gene . OMIM:606320 a owl:Class ; @@ -219200,13 +226942,14 @@ OMIM:606320 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:17172445 ; - oboInOwl:hasDbXref UMLS:C1418325 ; oboInOwl:hasExactSynonym "PCDHAC1", "pcdh-alpha-c1", "protocadherin-alpha, subfamily c, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56135 ; - skos:exactMatch HGNC_symbol:PCDHAC1 ; + skos:exactMatch UMLS:C1418325, + HGNC:8676, + HGNC_symbol:PCDHAC1 ; biolink:category biolink:Gene . OMIM:606321 a owl:Class ; @@ -219215,13 +226958,14 @@ OMIM:606321 a owl:Class ; PMID:11230163, PMID:17172445, PMID:28450636 ; - oboInOwl:hasDbXref UMLS:C1418326 ; oboInOwl:hasExactSynonym "PCDHAC2", "pcdh-alpha-c2", "protocadherin-alpha, subfamily c, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56134 ; - skos:exactMatch HGNC_symbol:PCDHAC2 ; + skos:exactMatch UMLS:C1418326, + HGNC:8677, + HGNC_symbol:PCDHAC2 ; biolink:category biolink:Gene . OMIM:606322 a owl:Class ; @@ -219231,14 +226975,15 @@ OMIM:606322 a owl:Class ; PMID:14765121, PMID:7584044, PMID:9417078 ; - oboInOwl:hasDbXref UMLS:C1422186 ; oboInOwl:hasExactSynonym "CYFIP1", "cytoplasmic fmrp-interacting protein 1", "kiaa0068", "specifically rac1-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23191 ; - skos:exactMatch HGNC_symbol:CYFIP1 ; + skos:exactMatch UMLS:C1422186, + HGNC:13759, + HGNC_symbol:CYFIP1 ; biolink:category biolink:Gene . OMIM:606323 a owl:Class ; @@ -219250,14 +226995,15 @@ OMIM:606323 a owl:Class ; PMID:30664714 ; RO:0002525 CHR:9606chr5q33.3 ; RO:0003303 OMIM:618008 ; - oboInOwl:hasDbXref UMLS:C1422187, - UMLS:C4693925 ; oboInOwl:hasExactSynonym "CYFIP2", "cytoplasmic fmrp-interacting protein 2", "p53-inducible protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26999 ; - skos:exactMatch HGNC_symbol:CYFIP2 ; + skos:exactMatch UMLS:C1422187, + UMLS:C4693925, + HGNC:13760, + HGNC_symbol:CYFIP2 ; biolink:category biolink:Gene . OMIM:606326 a owl:Class ; @@ -219275,78 +227021,84 @@ OMIM:606326 a owl:Class ; PMID:9605291 ; RO:0002525 CHR:9606chr14q23.1 ; RO:0003303 OMIM:212550 ; - oboInOwl:hasDbXref UMLS:C1420077 ; oboInOwl:hasExactSynonym "SIX6", "sine oculis homeobox, drosophila, homolog of, 6", "six homeobox 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4990 ; - skos:exactMatch HGNC_symbol:SIX6 ; + skos:exactMatch UMLS:C1420077, + HGNC:10892, + HGNC_symbol:SIX6 ; biolink:category biolink:Gene . OMIM:606327 a owl:Class ; rdfs:label "PCDHB1" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418329 ; oboInOwl:hasExactSynonym "PCDHB1", "pcdh-beta-1", "protocadherin-beta 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29930 ; - skos:exactMatch HGNC_symbol:PCDHB1 ; + skos:exactMatch UMLS:C1418329, + HGNC:8680, + HGNC_symbol:PCDHB1 ; biolink:category biolink:Gene . OMIM:606328 a owl:Class ; rdfs:label "PCDHB2" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418336 ; oboInOwl:hasExactSynonym "PCDHB2", "pcdh-beta-2", "protocadherin-beta 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56133 ; - skos:exactMatch HGNC_symbol:PCDHB2 ; + skos:exactMatch UMLS:C1418336, + HGNC:8687, + HGNC_symbol:PCDHB2 ; biolink:category biolink:Gene . OMIM:606329 a owl:Class ; rdfs:label "PCDHB3" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418337 ; oboInOwl:hasExactSynonym "PCDHB3", "pcdh-beta-3", "protocadherin-beta 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56132 ; - skos:exactMatch HGNC_symbol:PCDHB3 ; + skos:exactMatch UMLS:C1418337, + HGNC:8688, + HGNC_symbol:PCDHB3 ; biolink:category biolink:Gene . OMIM:606330 a owl:Class ; rdfs:label "PCDHB4" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418338 ; oboInOwl:hasExactSynonym "PCDHB4", "pcdh-beta-4", "protocadherin-beta 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56131 ; - skos:exactMatch HGNC_symbol:PCDHB4 ; + skos:exactMatch UMLS:C1418338, + HGNC:8689, + HGNC_symbol:PCDHB4 ; biolink:category biolink:Gene . OMIM:606331 a owl:Class ; rdfs:label "PCDHB5" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418339 ; oboInOwl:hasExactSynonym "PCDHB5", "pcdh-beta-5", "protocadherin-beta 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26167 ; - skos:exactMatch HGNC_symbol:PCDHB5 ; + skos:exactMatch UMLS:C1418339, + HGNC:8690, + HGNC_symbol:PCDHB5 ; biolink:category biolink:Gene . OMIM:606332 a owl:Class ; @@ -219354,39 +227106,42 @@ OMIM:606332 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:11322959 ; - oboInOwl:hasDbXref UMLS:C1418340 ; oboInOwl:hasExactSynonym "PCDHB6", "pcdh-beta-6", "protocadherin-beta 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56130 ; - skos:exactMatch HGNC_symbol:PCDHB6 ; + skos:exactMatch UMLS:C1418340, + HGNC:8691, + HGNC_symbol:PCDHB6 ; biolink:category biolink:Gene . OMIM:606333 a owl:Class ; rdfs:label "PCDHB7" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418341 ; oboInOwl:hasExactSynonym "PCDHB7", "pcdh-beta-7", "protocadherin-beta 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56129 ; - skos:exactMatch HGNC_symbol:PCDHB7 ; + skos:exactMatch UMLS:C1418341, + HGNC:8692, + HGNC_symbol:PCDHB7 ; biolink:category biolink:Gene . OMIM:606334 a owl:Class ; rdfs:label "PCDHB8" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418342 ; oboInOwl:hasExactSynonym "PCDHB8", "pcdh-beta-8", "protocadherin-beta 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56128 ; - skos:exactMatch HGNC_symbol:PCDHB8 ; + skos:exactMatch UMLS:C1418342, + HGNC:8693, + HGNC_symbol:PCDHB8 ; biolink:category biolink:Gene . OMIM:606335 a owl:Class ; @@ -219394,13 +227149,14 @@ OMIM:606335 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:11322959 ; - oboInOwl:hasDbXref UMLS:C1418343 ; oboInOwl:hasExactSynonym "PCDHB9", "pcdh-beta-9", "protocadherin-beta 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56127 ; - skos:exactMatch HGNC_symbol:PCDHB9 ; + skos:exactMatch UMLS:C1418343, + HGNC:8694, + HGNC_symbol:PCDHB9 ; biolink:category biolink:Gene . OMIM:606336 a owl:Class ; @@ -219408,13 +227164,14 @@ OMIM:606336 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:11322959 ; - oboInOwl:hasDbXref UMLS:C1418330 ; oboInOwl:hasExactSynonym "PCDHB10", "pcdh-beta-10", "protocadherin-beta 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56126 ; - skos:exactMatch HGNC_symbol:PCDHB10 ; + skos:exactMatch UMLS:C1418330, + HGNC:8681, + HGNC_symbol:PCDHB10 ; biolink:category biolink:Gene . OMIM:606337 a owl:Class ; @@ -219422,65 +227179,70 @@ OMIM:606337 a owl:Class ; IAO:0000142 PMID:10380929, PMID:11230163, PMID:9182820 ; - oboInOwl:hasDbXref UMLS:C1418331 ; oboInOwl:hasExactSynonym "PCDHB11", "pcdh-beta-11", "protocadherin-beta 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56125 ; - skos:exactMatch HGNC_symbol:PCDHB11 ; + skos:exactMatch UMLS:C1418331, + HGNC:8682, + HGNC_symbol:PCDHB11 ; biolink:category biolink:Gene . OMIM:606338 a owl:Class ; rdfs:label "PCDHB12" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418332 ; oboInOwl:hasExactSynonym "PCDHB12", "pcdh-beta-12", "protocadherin-beta 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56124 ; - skos:exactMatch HGNC_symbol:PCDHB12 ; + skos:exactMatch UMLS:C1418332, + HGNC:8683, + HGNC_symbol:PCDHB12 ; biolink:category biolink:Gene . OMIM:606339 a owl:Class ; rdfs:label "PCDHB13" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418333 ; oboInOwl:hasExactSynonym "PCDHB13", "pcdh-beta-13", "protocadherin-beta 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56123 ; - skos:exactMatch HGNC_symbol:PCDHB13 ; + skos:exactMatch UMLS:C1418333, + HGNC:8684, + HGNC_symbol:PCDHB13 ; biolink:category biolink:Gene . OMIM:606340 a owl:Class ; rdfs:label "PCDHB14" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418334 ; oboInOwl:hasExactSynonym "PCDHB14", "pcdh-beta-14", "protocadherin-beta 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56122 ; - skos:exactMatch HGNC_symbol:PCDHB14 ; + skos:exactMatch UMLS:C1418334, + HGNC:8685, + HGNC_symbol:PCDHB14 ; biolink:category biolink:Gene . OMIM:606341 a owl:Class ; rdfs:label "PCDHB15" ; IAO:0000142 PMID:10380929, PMID:11230163 ; - oboInOwl:hasDbXref UMLS:C1418335 ; oboInOwl:hasExactSynonym "PCDHB15", "pcdh-beta-15", "protocadherin-beta 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56121 ; - skos:exactMatch HGNC_symbol:PCDHB15 ; + skos:exactMatch UMLS:C1418335, + HGNC:8686, + HGNC_symbol:PCDHB15 ; biolink:category biolink:Gene . OMIM:606342 a owl:Class ; @@ -219490,13 +227252,14 @@ OMIM:606342 a owl:Class ; PMID:11313460, PMID:8628654, PMID:9551859 ; - oboInOwl:hasDbXref UMLS:C1420075 ; oboInOwl:hasExactSynonym "SIX4", "sine oculis homeobox, drosophila, homolog of, 4", "six homeobox 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51804 ; - skos:exactMatch HGNC_symbol:SIX4 ; + skos:exactMatch UMLS:C1420075, + HGNC:10890, + HGNC_symbol:SIX4 ; biolink:category biolink:Gene . OMIM:606343 a owl:Class ; @@ -219505,12 +227268,13 @@ OMIM:606343 a owl:Class ; PMID:11909969, PMID:11937519, PMID:14630615 ; - oboInOwl:hasDbXref UMLS:C1418736 ; oboInOwl:hasExactSynonym "POLL", "polymerase, dna, lambda" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27343 ; - skos:exactMatch HGNC_symbol:POLL ; + skos:exactMatch UMLS:C1418736, + HGNC:9184, + HGNC_symbol:POLL ; biolink:category biolink:Gene . OMIM:606344 a owl:Class ; @@ -219518,12 +227282,13 @@ OMIM:606344 a owl:Class ; IAO:0000142 PMID:10982892, PMID:11937519, PMID:12932354 ; - oboInOwl:hasDbXref UMLS:C1418737 ; oboInOwl:hasExactSynonym "POLM", "polymerase, dna, mu" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27434 ; - skos:exactMatch HGNC_symbol:POLM ; + skos:exactMatch UMLS:C1418737, + HGNC:9185, + HGNC_symbol:POLM ; biolink:category biolink:Gene . OMIM:606345 a owl:Class ; @@ -219531,7 +227296,6 @@ OMIM:606345 a owl:Class ; IAO:0000142 PMID:10997877, PMID:11230163, PMID:9182820 ; - oboInOwl:hasDbXref UMLS:C1422745 ; oboInOwl:hasExactSynonym "PCDHB16", "kiaa1621", "pcdh-beta-16", @@ -219539,7 +227303,9 @@ OMIM:606345 a owl:Class ; "protocadherin-beta 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57717 ; - skos:exactMatch HGNC_symbol:PCDHB16 ; + skos:exactMatch UMLS:C1422745, + HGNC:14546, + HGNC_symbol:PCDHB16 ; biolink:category biolink:Gene . OMIM:606346 a owl:Class ; @@ -219548,12 +227314,12 @@ OMIM:606346 a owl:Class ; PMID:15060111, PMID:18212818, PMID:18348273 ; - oboInOwl:hasDbXref UMLS:C2931767, - UMLS:C3149009 ; oboInOwl:hasExactSynonym "DFNA22", "deafness, autosomal dominant 22", "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C2931767, + UMLS:C3149009 ; biolink:category biolink:Disease . OMIM:606347 a owl:Class ; @@ -219567,14 +227333,15 @@ OMIM:606347 a owl:Class ; PMID:9857189 ; RO:0002525 CHR:9606chr15q24.3 ; RO:0003303 OMIM:604416 ; - oboInOwl:hasDbXref UMLS:C1419051 ; oboInOwl:hasExactSynonym "PSTPIP1", "cd2 antigen-binding protein 1", "proline/serine/threonine phosphatase-interacting protein 1", "pstpip" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9051 ; - skos:exactMatch HGNC_symbol:PSTPIP1 ; + skos:exactMatch UMLS:C1419051, + HGNC:9580, + HGNC_symbol:PSTPIP1 ; biolink:category biolink:Gene . OMIM:606349 a owl:Class ; @@ -219583,8 +227350,8 @@ OMIM:606349 a owl:Class ; PMID:17242339, PMID:17296836, PMID:9926543 ; - oboInOwl:hasDbXref UMLS:C0030662 ; - oboInOwl:hasExactSynonym "gambling, pathologic" . + oboInOwl:hasExactSynonym "gambling, pathologic" ; + skos:exactMatch UMLS:C0030662 . OMIM:606350 a owl:Class ; rdfs:label "APTX" ; @@ -219611,13 +227378,14 @@ OMIM:606350 a owl:Class ; PMID:25976310 ; RO:0002525 CHR:9606chr9p21.1 ; RO:0003303 OMIM:208920 ; - oboInOwl:hasDbXref UMLS:C1423885 ; oboInOwl:hasExactSynonym "APTX", "aprataxin", "flj20157" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54840 ; - skos:exactMatch HGNC_symbol:APTX ; + skos:exactMatch UMLS:C1423885, + HGNC:15984, + HGNC_symbol:APTX ; biolink:category biolink:Gene . OMIM:606351 a owl:Class ; @@ -219633,13 +227401,14 @@ OMIM:606351 a owl:Class ; PMID:9763424 ; RO:0002525 CHR:9606chr1p36.31 ; RO:0003303 OMIM:609006 ; - oboInOwl:hasDbXref UMLS:C1421921 ; oboInOwl:hasExactSynonym "ESPN", "espin", "espin, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83715 ; - skos:exactMatch HGNC_symbol:ESPN ; + skos:exactMatch UMLS:C1421921, + HGNC:13281, + HGNC_symbol:ESPN ; biolink:category biolink:Gene . OMIM:606352 a owl:Class ; @@ -219671,10 +227440,6 @@ OMIM:606352 a owl:Class ; PMID:8745388 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:607225 ; - oboInOwl:hasDbXref UMLS:C1412367, - UMLS:C1853396, - UMLS:C1859807, - UMLS:C2931441 ; oboInOwl:hasExactSynonym "ALS2", "als2 gene", "alsin", @@ -219682,7 +227447,12 @@ OMIM:606352 a owl:Class ; "kiaa1563" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57679 ; - skos:exactMatch HGNC_symbol:ALS2 ; + skos:exactMatch UMLS:C1412367, + UMLS:C1853396, + UMLS:C1859807, + UMLS:C2931441, + HGNC:443, + HGNC_symbol:ALS2 ; biolink:category biolink:Gene . OMIM:606353 a owl:Class ; @@ -219697,11 +227467,11 @@ OMIM:606353 a owl:Class ; PMID:4003039, PMID:8719747, PMID:8745388 ; - oboInOwl:hasDbXref UMLS:C1853396, - ORPHA:247604 ; oboInOwl:hasExactSynonym "PLSJ", "pls, juvenile", "primary lateral sclerosis, juvenile" ; + skos:exactMatch UMLS:C1853396, + ORPHA:247604 ; biolink:category biolink:Disease . OMIM:606354 a owl:Class ; @@ -219712,13 +227482,14 @@ OMIM:606355 a owl:Class ; rdfs:label "DDX18" ; IAO:0000142 PMID:16963496, PMID:8861962 ; - oboInOwl:hasDbXref UMLS:C1413958 ; oboInOwl:hasExactSynonym "DDX18", "dead-box helicase 18", "dead-box polypeptide 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8886 ; - skos:exactMatch HGNC_symbol:DDX18 ; + skos:exactMatch UMLS:C1413958, + HGNC:2741, + HGNC_symbol:DDX18 ; biolink:category biolink:Gene . OMIM:606356 a owl:Class ; @@ -219726,14 +227497,15 @@ OMIM:606356 a owl:Class ; IAO:0000142 PMID:11481458, PMID:9061857, PMID:9600958 ; - oboInOwl:hasDbXref UMLS:C1823382 ; oboInOwl:hasExactSynonym "TMEM123", "keratinocyte-associated transmembrane protein 3", "pro-oncosis receptor inducing membrane injury", "transmembrane protein 123" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114908 ; - skos:exactMatch HGNC_symbol:TMEM123 ; + skos:exactMatch UMLS:C1823382, + HGNC:30138, + HGNC_symbol:TMEM123 ; biolink:category biolink:Gene . OMIM:606357 a owl:Class ; @@ -219745,13 +227517,14 @@ OMIM:606357 a owl:Class ; PMID:25470060, PMID:29364875, PMID:8614622 ; - oboInOwl:hasDbXref UMLS:C1413961 ; oboInOwl:hasExactSynonym "DDX21", "dead/h box 21", "dexd-box helicase 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9188 ; - skos:exactMatch HGNC_symbol:DDX21 ; + skos:exactMatch UMLS:C1413961, + HGNC:2744, + HGNC_symbol:DDX21 ; biolink:category biolink:Gene . OMIM:606358 a owl:Class ; @@ -219761,14 +227534,15 @@ OMIM:606358 a owl:Class ; PMID:17975060, PMID:9461476, PMID:9790916 ; - oboInOwl:hasDbXref UMLS:C1332034 ; oboInOwl:hasExactSynonym "AGR2", "ag2", "anterior gradient 2, protein disulphide isomerase family member", "anterior gradient 2, xenopus, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10551 ; - skos:exactMatch HGNC_symbol:AGR2 ; + skos:exactMatch UMLS:C1332034, + HGNC:328, + HGNC_symbol:AGR2 ; biolink:category biolink:Gene . OMIM:606359 a owl:Class ; @@ -219796,12 +227570,13 @@ OMIM:606359 a owl:Class ; PMID:21617076, PMID:22726442, PMID:23371553 ; - oboInOwl:hasDbXref UMLS:C1423884 ; oboInOwl:hasExactSynonym "WNT3A", "wingless-type mmtv integration site family, member 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89780 ; - skos:exactMatch HGNC_symbol:WNT3A ; + skos:exactMatch UMLS:C1423884, + HGNC:15983, + HGNC_symbol:WNT3A ; biolink:category biolink:Gene . OMIM:606360 a owl:Class ; @@ -219809,12 +227584,13 @@ OMIM:606360 a owl:Class ; IAO:0000142 PMID:11408932, PMID:17975065, PMID:22653731 ; - oboInOwl:hasDbXref UMLS:C1421518 ; oboInOwl:hasExactSynonym "WNT8A", "wingless-type mmtv integration site family, member 8a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7478 ; - skos:exactMatch HGNC_symbol:WNT8A ; + skos:exactMatch UMLS:C1421518, + HGNC:12788, + HGNC_symbol:WNT8A ; biolink:category biolink:Gene . OMIM:606361 a owl:Class ; @@ -219823,12 +227599,13 @@ OMIM:606361 a owl:Class ; PMID:15386214, PMID:2279700, PMID:25992545 ; - oboInOwl:hasDbXref UMLS:C1424137 ; oboInOwl:hasExactSynonym "WNT5B", "wingless-type mmtv integration site family, member 5b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81029 ; - skos:exactMatch HGNC_symbol:WNT5B ; + skos:exactMatch UMLS:C1424137, + HGNC:16265, + HGNC_symbol:WNT5B ; biolink:category biolink:Gene . OMIM:606362 a owl:Class ; @@ -219838,27 +227615,29 @@ OMIM:606362 a owl:Class ; PMID:30877375 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:617297 ; - oboInOwl:hasDbXref UMLS:C1422600 ; oboInOwl:hasExactSynonym "ACP4", "acid phosphatase 4", "acid phosphatase, testicular", "testicular acid phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93650 ; - skos:exactMatch HGNC_symbol:ACP4 ; + skos:exactMatch UMLS:C1422600, + HGNC:14376, + HGNC_symbol:ACP4 ; biolink:category biolink:Gene . OMIM:606363 a owl:Class ; rdfs:label "ABI3" ; IAO:0000142 PMID:10978530, PMID:11501947 ; - oboInOwl:hasDbXref UMLS:C1428902 ; oboInOwl:hasExactSynonym "ABI3", "abi family member 3", "nesh protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51225 ; - skos:exactMatch HGNC_symbol:ABI3 ; + skos:exactMatch UMLS:C1428902, + HGNC:29859, + HGNC_symbol:ABI3 ; biolink:category biolink:Gene . OMIM:606364 a owl:Class ; @@ -219868,26 +227647,28 @@ OMIM:606364 a owl:Class ; OMIM:606365 a owl:Class ; rdfs:label "GLS2" ; IAO:0000142 PMID:10620514 ; - oboInOwl:hasDbXref UMLS:C1428877 ; oboInOwl:hasExactSynonym "GLS2", "ga", "glutaminase 2", "glutaminase, liver" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27165 ; - skos:exactMatch HGNC_symbol:GLS2 ; + skos:exactMatch UMLS:C1428877, + HGNC:29570, + HGNC_symbol:GLS2 ; biolink:category biolink:Gene . OMIM:606366 a owl:Class ; rdfs:label "RHOU" ; IAO:0000142 PMID:11459829 ; - oboInOwl:hasDbXref UMLS:C1425081 ; oboInOwl:hasExactSynonym "RHOU", "ras homolog gene family, member u", "wnt1-responsive cdc42 homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58480 ; - skos:exactMatch HGNC_symbol:RHOU ; + skos:exactMatch UMLS:C1425081, + HGNC:17794, + HGNC_symbol:RHOU ; biolink:category biolink:Gene . OMIM:606367 a owl:Class ; @@ -219897,13 +227678,13 @@ OMIM:606367 a owl:Class ; PMID:23416241, PMID:24116927, PMID:9096364 ; - oboInOwl:hasDbXref UMLS:C1853392 ; oboInOwl:hasExactSynonym "IMD41", "cd25 deficiency", "il2ra deficiency", "immunodeficiency 41 with lymphoproliferation and autoimmunity", "interleukin 2 receptor, alpha, deficiency of" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1853392 ; biolink:category biolink:Disease . OMIM:606368 a owl:Class ; @@ -219923,20 +227704,21 @@ OMIM:606368 a owl:Class ; PMID:4718953 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:145750 ; - oboInOwl:hasDbXref UMLS:C1424878 ; oboInOwl:hasExactSynonym "APOA5", "apoav", "apolipoprotein a-v" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116519 ; - skos:exactMatch HGNC_symbol:APOA5 ; + skos:exactMatch UMLS:C1424878, + HGNC:17288, + HGNC_symbol:APOA5 ; biolink:category biolink:Gene . OMIM:606369 a owl:Class ; rdfs:label "macrocephaly and epileptic encephalopathy" ; IAO:0000142 PMID:11745991 ; - oboInOwl:hasDbXref UMLS:C3807541 ; - oboInOwl:hasExactSynonym "macrocephaly and epileptic encephalopathy" . + oboInOwl:hasExactSynonym "macrocephaly and epileptic encephalopathy" ; + skos:exactMatch UMLS:C3807541 . OMIM:606370 a owl:Class ; rdfs:label "TPK1" ; @@ -219946,25 +227728,27 @@ OMIM:606370 a owl:Class ; PMID:22152682 ; RO:0002525 CHR:9606chr7q35 ; RO:0003303 OMIM:614458 ; - oboInOwl:hasDbXref UMLS:C1424931 ; oboInOwl:hasExactSynonym "TPK1", "thiamine kinase", "thiamine pyrophosphokinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27010 ; - skos:exactMatch HGNC_symbol:TPK1 ; + skos:exactMatch UMLS:C1424931, + HGNC:17358, + HGNC_symbol:TPK1 ; biolink:category biolink:Gene . OMIM:606371 a owl:Class ; rdfs:label "ATF7" ; IAO:0000142 PMID:1694576 ; - oboInOwl:hasDbXref UMLS:C1412623 ; oboInOwl:hasExactSynonym "ATF7", "activating transcription factor 7", "atfa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11016 ; - skos:exactMatch HGNC_symbol:ATF7 ; + skos:exactMatch UMLS:C1412623, + HGNC:792, + HGNC_symbol:ATF7 ; biolink:category biolink:Gene . OMIM:606372 a owl:Class ; @@ -219972,13 +227756,14 @@ OMIM:606372 a owl:Class ; IAO:0000142 PMID:11350119, PMID:17101979, PMID:18077337 ; - oboInOwl:hasDbXref UMLS:C1422200 ; oboInOwl:hasExactSynonym "CHRNA10", "acetylcholine receptor, neuronal nicotinic, alpha-10 subunit", "cholinergic receptor, neuronal nicotinic, alpha polypeptide 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57053 ; - skos:exactMatch HGNC_symbol:CHRNA10 ; + skos:exactMatch UMLS:C1422200, + HGNC:13800, + HGNC_symbol:CHRNA10 ; biolink:category biolink:Gene . OMIM:606373 a owl:Class ; @@ -219988,12 +227773,13 @@ OMIM:606373 a owl:Class ; PMID:25480035 ; RO:0002525 CHR:9606chr1q43 ; RO:0003303 OMIM:616193 ; - oboInOwl:hasDbXref UMLS:C1422390 ; oboInOwl:hasExactSynonym "FMN2", "formin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56776 ; - skos:exactMatch HGNC_symbol:FMN2 ; + skos:exactMatch UMLS:C1422390, + HGNC:14074, + HGNC_symbol:FMN2 ; biolink:category biolink:Gene . OMIM:606374 a owl:Class ; @@ -220008,15 +227794,16 @@ OMIM:606374 a owl:Class ; PMID:9506957 ; RO:0002525 CHR:9606chr11q12.3 ; RO:0003303 OMIM:245600 ; - oboInOwl:hasDbXref UMLS:C1412718, - UMLS:C3278404, - UMLS:C4310897 ; oboInOwl:hasExactSynonym "B3GAT3", "beta-1,3-glucuronyltransferase 3", "glucuronosyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26229 ; - skos:exactMatch HGNC_symbol:B3GAT3 ; + skos:exactMatch UMLS:C1412718, + UMLS:C3278404, + UMLS:C4310897, + HGNC:923, + HGNC_symbol:B3GAT3 ; biolink:category biolink:Gene . OMIM:606375 a owl:Class ; @@ -220027,25 +227814,27 @@ OMIM:606376 a owl:Class ; rdfs:label "CHST10" ; IAO:0000142 PMID:10464296, PMID:9478973 ; - oboInOwl:hasDbXref UMLS:C1426300 ; oboInOwl:hasExactSynonym "CHST10", "carbohydrate sulfotransferase 10", "hnk1 sulfotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9486 ; - skos:exactMatch HGNC_symbol:CHST10 ; + skos:exactMatch UMLS:C1426300, + HGNC:19650, + HGNC_symbol:CHST10 ; biolink:category biolink:Gene . OMIM:606377 a owl:Class ; rdfs:label "DHDH" ; IAO:0000142 PMID:10477285 ; - oboInOwl:hasDbXref UMLS:C1425156 ; oboInOwl:hasExactSynonym "DHDH", "dimeric dihydrodiol dehydrogenase", "hum2dd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27294 ; - skos:exactMatch HGNC_symbol:DHDH ; + skos:exactMatch UMLS:C1425156, + HGNC:17887, + HGNC_symbol:DHDH ; biolink:category biolink:Gene . OMIM:606378 a owl:Class ; @@ -220054,7 +227843,6 @@ OMIM:606378 a owl:Class ; PMID:10369878, PMID:11062056, PMID:12594047 ; - oboInOwl:hasDbXref UMLS:C1539870 ; oboInOwl:hasExactSynonym "ST6GALNAC4", "neuac-alpha-2,3-gal-beta-1,3-galnac-alpha-2,6-sialyltransferase 4", "sialyltransferase 3c", @@ -220062,20 +227850,23 @@ OMIM:606378 a owl:Class ; "st6galnac 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27090 ; - skos:exactMatch HGNC_symbol:ST6GALNAC4 ; + skos:exactMatch UMLS:C1539870, + HGNC:17846, + HGNC_symbol:ST6GALNAC4 ; biolink:category biolink:Gene . OMIM:606379 a owl:Class ; rdfs:label "GPR87" ; IAO:0000142 PMID:11273702, PMID:11574155 ; - oboInOwl:hasDbXref UMLS:C1415268 ; oboInOwl:hasExactSynonym "GPR87", "g protein-coupled receptor 87", "gpr95" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53836 ; - skos:exactMatch HGNC_symbol:GPR87 ; + skos:exactMatch UMLS:C1415268, + HGNC:4538, + HGNC_symbol:GPR87 ; biolink:category biolink:Gene . OMIM:606380 a owl:Class ; @@ -220085,14 +227876,15 @@ OMIM:606380 a owl:Class ; PMID:11574155, PMID:7768954, PMID:9701565 ; - oboInOwl:hasDbXref UMLS:C1538559 ; oboInOwl:hasExactSynonym "P2RY13", "g protein-coupled receptor 86", "gpr94", "purinergic receptor p2y, g protein-coupled, 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53829 ; - skos:exactMatch HGNC_symbol:P2RY13 ; + skos:exactMatch UMLS:C1538559, + HGNC:4537, + HGNC_symbol:P2RY13 ; biolink:category biolink:Gene . OMIM:606381 a owl:Class ; @@ -220102,13 +227894,14 @@ OMIM:606381 a owl:Class ; PMID:18836459, PMID:29887373, PMID:31645725 ; - oboInOwl:hasDbXref UMLS:C1539890 ; oboInOwl:hasExactSynonym "SUCNR1", "g protein-coupled receptor 91", "succinate receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56670 ; - skos:exactMatch HGNC_symbol:SUCNR1 ; + skos:exactMatch UMLS:C1539890, + HGNC:4542, + HGNC_symbol:SUCNR1 ; biolink:category biolink:Gene . OMIM:606382 a owl:Class ; @@ -220129,7 +227922,6 @@ OMIM:606382 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr7q21.11 ; RO:0003303 OMIM:617609 ; - oboInOwl:hasDbXref UMLS:C1825938 ; oboInOwl:hasExactSynonym "MAGI2", "atrophin 1-interacting protein 1", "kiaa0705", @@ -220137,18 +227929,21 @@ OMIM:606382 a owl:Class ; "synaptic scaffolding molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9863 ; - skos:exactMatch HGNC_symbol:MAGI2 ; + skos:exactMatch UMLS:C1825938, + HGNC:18957, + HGNC_symbol:MAGI2 ; biolink:category biolink:Gene . OMIM:606383 a owl:Class ; rdfs:label "GPR84" ; IAO:0000142 PMID:11273702 ; - oboInOwl:hasDbXref UMLS:C1415265 ; oboInOwl:hasExactSynonym "GPR84", "g protein-coupled receptor 84" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53831 ; - skos:exactMatch HGNC_symbol:GPR84 ; + skos:exactMatch UMLS:C1415265, + HGNC:4535, + HGNC_symbol:GPR84 ; biolink:category biolink:Gene . OMIM:606384 a owl:Class ; @@ -220163,7 +227958,6 @@ OMIM:606384 a owl:Class ; PMID:9455477 ; RO:0002525 CHR:9606chr18q21.31 ; RO:0003303 OMIM:617201 ; - oboInOwl:hasDbXref UMLS:C1417660 ; oboInOwl:hasExactSynonym "NEDD4L", "kiaa0439", "nedd4-2", @@ -220171,7 +227965,9 @@ OMIM:606384 a owl:Class ; "ubiquitin protein ligase nedd4-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23327 ; - skos:exactMatch HGNC_symbol:NEDD4L ; + skos:exactMatch UMLS:C1417660, + HGNC:7728, + HGNC_symbol:NEDD4L ; biolink:category biolink:Gene . OMIM:606385 a owl:Class ; @@ -220183,12 +227979,13 @@ OMIM:606385 a owl:Class ; PMID:11955448, PMID:15604411, PMID:6304520 ; - oboInOwl:hasDbXref UMLS:C1424672 ; oboInOwl:hasExactSynonym "OLIG1", "oligodendrocyte lineage transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116448 ; - skos:exactMatch HGNC_symbol:OLIG1 ; + skos:exactMatch UMLS:C1424672, + HGNC:16983, + HGNC_symbol:OLIG1 ; biolink:category biolink:Gene . OMIM:606386 a owl:Class ; @@ -220213,38 +228010,41 @@ OMIM:606386 a owl:Class ; PMID:20368359, PMID:24179156, PMID:6304520 ; - oboInOwl:hasDbXref UMLS:C1418915 ; oboInOwl:hasExactSynonym "OLIG2", "basic helix-loop-helix protein, class b, 1", "oligodendrocyte lineage transcription factor 2", "protein kinase c binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10215 ; - skos:exactMatch HGNC_symbol:OLIG2 ; + skos:exactMatch UMLS:C1418915, + HGNC:9398, + HGNC_symbol:OLIG2 ; biolink:category biolink:Gene . OMIM:606387 a owl:Class ; rdfs:label "TOP1MT" ; IAO:0000142 PMID:11526219 ; - oboInOwl:hasDbXref UMLS:C1540038 ; oboInOwl:hasExactSynonym "TOP1MT", "topoisomerase i, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116447 ; - skos:exactMatch HGNC_symbol:TOP1MT ; + skos:exactMatch UMLS:C1540038, + HGNC:29787, + HGNC_symbol:TOP1MT ; biolink:category biolink:Gene . OMIM:606388 a owl:Class ; rdfs:label "THEM4" ; IAO:0000142 PMID:11598301, PMID:22586271 ; - oboInOwl:hasDbXref UMLS:C1823268 ; oboInOwl:hasExactSynonym "THEM4", "c-terminal modulator protein", "thioesterase superfamily member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117145 ; - skos:exactMatch HGNC_symbol:THEM4 ; + skos:exactMatch UMLS:C1823268, + HGNC:17947, + HGNC_symbol:THEM4 ; biolink:category biolink:Gene . OMIM:606389 a owl:Class ; @@ -220259,13 +228059,14 @@ OMIM:606389 a owl:Class ; PMID:26989199 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:612997 ; - oboInOwl:hasDbXref UMLS:C1424753 ; oboInOwl:hasExactSynonym "CATSPER1", "cation channel, sperm-associated, 1", "catsper" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117144 ; - skos:exactMatch HGNC_symbol:CATSPER1 ; + skos:exactMatch UMLS:C1424753, + HGNC:17116, + HGNC_symbol:CATSPER1 ; biolink:category biolink:Gene . OMIM:606390 a owl:Class ; @@ -220294,10 +228095,10 @@ OMIM:606391 a owl:Class ; PMID:7898196, PMID:878915, PMID:9313765 ; - oboInOwl:hasDbXref UMLS:C0342276 ; oboInOwl:hasExactSynonym "MODY", "mason-type diabetes", "maturity-onset diabetes of the young" ; + skos:exactMatch UMLS:C0342276 ; biolink:category biolink:Disease . OMIM:606392 a owl:Class ; @@ -220308,34 +228109,35 @@ OMIM:606392 a owl:Class ; PMID:8506821, PMID:9326926, PMID:9649577 ; - oboInOwl:hasDbXref UMLS:C1833382 ; oboInOwl:hasExactSynonym "MODY4", "maturity-onset diabetes of the young, iia 4", "mody, iia 4" ; + skos:exactMatch UMLS:C1833382 ; biolink:category biolink:Disease . OMIM:606393 a owl:Class ; rdfs:label "ADAMDEC1" ; IAO:0000142 PMID:12037602, PMID:9271581 ; - oboInOwl:hasDbXref UMLS:C1424167 ; oboInOwl:hasExactSynonym "ADAMDEC1", "a disintegrin and metalloproteinase domain-like protein decysin 1", "adam-like protein decysin 1", "decysin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27299 ; - skos:exactMatch HGNC_symbol:ADAMDEC1 ; + skos:exactMatch UMLS:C1424167, + HGNC:16299, + HGNC_symbol:ADAMDEC1 ; biolink:category biolink:Gene . OMIM:606394 a owl:Class ; rdfs:label "maturity-onset diabetes of the young, iia 6" ; IAO:0000142 PMID:10545951, PMID:11575290 ; - oboInOwl:hasDbXref UMLS:C1853371 ; oboInOwl:hasExactSynonym "MODY6", "maturity-onset diabetes of the young, iia 6", "mody, iia 6" ; + skos:exactMatch UMLS:C1853371 ; biolink:category biolink:Disease . OMIM:606395 a owl:Class ; @@ -220343,23 +228145,25 @@ OMIM:606395 a owl:Class ; IAO:0000142 PMID:10194769, PMID:10920239, PMID:12735795 ; - oboInOwl:hasDbXref UMLS:C1418883 ; oboInOwl:hasExactSynonym "PREB", "prolactin regulatory element-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10113 ; - skos:exactMatch HGNC_symbol:PREB ; + skos:exactMatch UMLS:C1418883, + HGNC:9356, + HGNC_symbol:PREB ; biolink:category biolink:Gene . OMIM:606396 a owl:Class ; rdfs:label "BIN3" ; IAO:0000142 PMID:11274158 ; - oboInOwl:hasDbXref UMLS:C1412798 ; oboInOwl:hasExactSynonym "BIN3", "bridging integrator 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55909 ; - skos:exactMatch HGNC_symbol:BIN3 ; + skos:exactMatch UMLS:C1412798, + HGNC:1054, + HGNC_symbol:BIN3 ; biolink:category biolink:Gene . OMIM:606397 a owl:Class ; @@ -220377,14 +228181,15 @@ OMIM:606397 a owl:Class ; PMID:9719374 ; RO:0002525 CHR:9606chr3q25.1 ; RO:0003303 OMIM:276902 ; - oboInOwl:hasDbXref UMLS:C1824756 ; oboInOwl:hasExactSynonym "CLRN1", "clarin 1", "ush3", "ush3a gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7401 ; - skos:exactMatch HGNC_symbol:CLRN1 ; + skos:exactMatch UMLS:C1824756, + HGNC:12605, + HGNC_symbol:CLRN1 ; biolink:category biolink:Gene . OMIM:606398 a owl:Class ; @@ -220393,13 +228198,14 @@ OMIM:606398 a owl:Class ; PMID:11087824, PMID:11278933, PMID:20495567 ; - oboInOwl:hasDbXref UMLS:C1412621 ; oboInOwl:hasExactSynonym "ATF5", "activating transcription factor 5", "atfx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22809 ; - skos:exactMatch HGNC_symbol:ATF5 ; + skos:exactMatch UMLS:C1412621, + HGNC:790, + HGNC_symbol:ATF5 ; biolink:category biolink:Gene . OMIM:606399 a owl:Class ; @@ -220407,25 +228213,27 @@ OMIM:606399 a owl:Class ; IAO:0000142 PMID:11245980, PMID:21074052, PMID:22678293 ; - oboInOwl:hasDbXref UMLS:C1423504 ; oboInOwl:hasExactSynonym "CACNA2D3", "calcium channel, voltage-dependent, alpha-2/delta subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55799 ; - skos:exactMatch HGNC_symbol:CACNA2D3 ; + skos:exactMatch UMLS:C1423504, + HGNC:15460, + HGNC_symbol:CACNA2D3 ; biolink:category biolink:Gene . OMIM:606400 a owl:Class ; rdfs:label "CAPN7" ; IAO:0000142 PMID:11342116, PMID:11516996 ; - oboInOwl:hasDbXref UMLS:C1413117 ; oboInOwl:hasExactSynonym "CAPN7", "calpain 7", "palb, aspergillus nidulans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23473 ; - skos:exactMatch HGNC_symbol:CAPN7 ; + skos:exactMatch UMLS:C1413117, + HGNC:1484, + HGNC_symbol:CAPN7 ; biolink:category biolink:Gene . OMIM:606401 a owl:Class ; @@ -220434,19 +228242,19 @@ OMIM:606401 a owl:Class ; PMID:11516996, PMID:27881674, PMID:9524069 ; - oboInOwl:hasDbXref UMLS:C1413119 ; oboInOwl:hasExactSynonym "CAPN9", "calpain 9", "ncl4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10753 ; - skos:exactMatch HGNC_symbol:CAPN9 ; + skos:exactMatch UMLS:C1413119, + HGNC:1486, + HGNC_symbol:CAPN9 ; biolink:category biolink:Gene . OMIM:606402 a owl:Class ; rdfs:label "GKN1" ; IAO:0000142 PMID:10835488 ; - oboInOwl:hasDbXref UMLS:C1427996 ; oboInOwl:hasExactSynonym "GKN1", "antrum mucosa protein, 18-kd", "brichos domain-containing 1", @@ -220455,7 +228263,9 @@ OMIM:606402 a owl:Class ; "gastrokine 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56287 ; - skos:exactMatch HGNC_symbol:GKN1 ; + skos:exactMatch UMLS:C1427996, + HGNC:23217, + HGNC_symbol:GKN1 ; biolink:category biolink:Gene . OMIM:606403 a owl:Class ; @@ -220463,12 +228273,13 @@ OMIM:606403 a owl:Class ; IAO:0000142 PMID:10221464, PMID:10613843, PMID:11170751 ; - oboInOwl:hasDbXref UMLS:C1413073 ; oboInOwl:hasExactSynonym "CACNG3", "calcium channel, voltage-dependent, gamma-3 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10368 ; - skos:exactMatch HGNC_symbol:CACNG3 ; + skos:exactMatch UMLS:C1413073, + HGNC:1407, + HGNC_symbol:CACNG3 ; biolink:category biolink:Gene . OMIM:606404 a owl:Class ; @@ -220477,12 +228288,13 @@ OMIM:606404 a owl:Class ; PMID:11170751, PMID:11738816, PMID:15677329 ; - oboInOwl:hasDbXref UMLS:C1413074 ; oboInOwl:hasExactSynonym "CACNG4", "calcium channel, voltage-dependent, gamma-4 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27092 ; - skos:exactMatch HGNC_symbol:CACNG4 ; + skos:exactMatch UMLS:C1413074, + HGNC:1408, + HGNC_symbol:CACNG4 ; biolink:category biolink:Gene . OMIM:606405 a owl:Class ; @@ -220490,23 +228302,25 @@ OMIM:606405 a owl:Class ; IAO:0000142 PMID:10613843, PMID:11170751, PMID:11738816 ; - oboInOwl:hasDbXref UMLS:C1413075 ; oboInOwl:hasExactSynonym "CACNG5", "calcium channel, voltage-dependent, gamma-5 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27091 ; - skos:exactMatch HGNC_symbol:CACNG5 ; + skos:exactMatch UMLS:C1413075, + HGNC:1409, + HGNC_symbol:CACNG5 ; biolink:category biolink:Gene . OMIM:606406 a owl:Class ; rdfs:label "NPIP" ; IAO:0000142 PMID:11586358 ; - oboInOwl:hasDbXref UMLS:C1417785 ; oboInOwl:hasExactSynonym "NPIP", "nuclear pore complex-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9284 ; - skos:exactMatch HGNC_symbol:NPIPA1 ; + skos:exactMatch UMLS:C1417785, + HGNC:7909, + HGNC_symbol:NPIPA1 ; biolink:category biolink:Gene . OMIM:606407 a owl:Class ; @@ -220517,14 +228331,14 @@ OMIM:606407 a owl:Class ; PMID:18234729, PMID:24610330 ; RO:0002525 CHR:9606chr2p21 ; - oboInOwl:hasDbXref UMLS:C1848030, - ORPHA:163690, - ORPHA:163693, - ORPHA:238523 ; oboInOwl:hasExactSynonym "cystinuria with mitochondrial disease", "homozygous 2p16 deletion syndrome, formerly", "homozygous 2p21 deletion syndrome", "hypotonia-cystinuria syndrome" ; + skos:exactMatch UMLS:C1848030, + ORPHA:163690, + ORPHA:163693, + ORPHA:238523 ; biolink:category biolink:Disease . OMIM:606408 a owl:Class ; @@ -220542,13 +228356,13 @@ OMIM:606408 a owl:Class ; PMID:3435571, PMID:9228503, PMID:9288108 ; - oboInOwl:hasDbXref UMLS:C1848029 ; oboInOwl:hasExactSynonym "EDSCLL", "eds due to tnx deficiency", "ehlers-danlos syndrome due to tenascin-x deficiency", "ehlers-danlos syndrome, classic-like", "tnx deficiency" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C1848029 ; biolink:category biolink:Disease . OMIM:606409 a owl:Class ; @@ -220570,8 +228384,6 @@ OMIM:606409 a owl:Class ; PMID:9647693 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:613385 ; - oboInOwl:hasDbXref UMLS:C1422257, - UMLS:C3150649 ; oboInOwl:hasExactSynonym "ITCH", "atrophin 1-interacting protein 4", "itchy e3 ubiquitin protein ligase", @@ -220579,7 +228391,10 @@ OMIM:606409 a owl:Class ; "nfe2-associated polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83737 ; - skos:exactMatch HGNC_symbol:ITCH ; + skos:exactMatch UMLS:C1422257, + UMLS:C3150649, + HGNC:13890, + HGNC_symbol:ITCH ; biolink:category biolink:Gene . OMIM:606410 a owl:Class ; @@ -220597,14 +228412,15 @@ OMIM:606410 a owl:Class ; PMID:9298746 ; RO:0002525 CHR:9606chr2p13.3 ; RO:0003303 OMIM:602089 ; - oboInOwl:hasDbXref UMLS:C1427242 ; oboInOwl:hasExactSynonym "ANTXR1", "anthrax toxin receptor", "anthrax toxin receptor 1", "tumor endothelial marker 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84168 ; - skos:exactMatch HGNC_symbol:ANTXR1 ; + skos:exactMatch UMLS:C1427242, + HGNC:21014, + HGNC_symbol:ANTXR1 ; biolink:category biolink:Gene . OMIM:606411 a owl:Class ; @@ -220616,14 +228432,15 @@ OMIM:606411 a owl:Class ; PMID:30635937 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:618384 ; - oboInOwl:hasDbXref UMLS:C1422640, - UMLS:C5193068 ; oboInOwl:hasExactSynonym "SLC13A3", "sodium-dependent dicarboxylate transporter 3", "solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64849 ; - skos:exactMatch HGNC_symbol:SLC13A3 ; + skos:exactMatch UMLS:C1422640, + UMLS:C5193068, + HGNC:14430, + HGNC_symbol:SLC13A3 ; biolink:category biolink:Gene . OMIM:606412 a owl:Class ; @@ -220636,38 +228453,41 @@ OMIM:606412 a owl:Class ; PMID:9463315 ; RO:0002525 CHR:9606chr1p32.3 ; RO:0003303 OMIM:602522 ; - oboInOwl:hasDbXref UMLS:C1424344 ; oboInOwl:hasExactSynonym "BSND", "barttin", "barttin clcnk-type accessory subunit beta", "bsnd gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7809 ; - skos:exactMatch HGNC_symbol:BSND ; + skos:exactMatch UMLS:C1424344, + HGNC:16512, + HGNC_symbol:BSND ; biolink:category biolink:Gene . OMIM:606413 a owl:Class ; rdfs:label "INSL5" ; IAO:0000142 PMID:10458910 ; - oboInOwl:hasDbXref UMLS:C1416455 ; oboInOwl:hasExactSynonym "INSL5", "insulin-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10022 ; - skos:exactMatch HGNC_symbol:INSL5 ; + skos:exactMatch UMLS:C1416455, + HGNC:6088, + HGNC_symbol:INSL5 ; biolink:category biolink:Gene . OMIM:606414 a owl:Class ; rdfs:label "INSL6" ; IAO:0000142 PMID:10598589, PMID:10819760 ; - oboInOwl:hasDbXref UMLS:C1416456 ; oboInOwl:hasExactSynonym "INSL6", "insulin-like 6", "relaxin/insulin-like factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11172 ; - skos:exactMatch HGNC_symbol:INSL6 ; + skos:exactMatch UMLS:C1416456, + HGNC:6089, + HGNC_symbol:INSL6 ; biolink:category biolink:Gene . OMIM:606415 a owl:Class ; @@ -220736,12 +228556,6 @@ OMIM:606416 a owl:Class ; PMID:9653160 ; RO:0002525 CHR:9606chr1q44 ; RO:0003303 OMIM:191900 ; - oboInOwl:hasDbXref UMLS:C0268390, - UMLS:C0409818, - UMLS:C1424250, - UMLS:C1835697, - UMLS:C4521680, - UMLS:C4551895 ; oboInOwl:hasExactSynonym "NLRP3", "aii/avp receptor-like", "cias1 gene", @@ -220751,7 +228565,14 @@ OMIM:606416 a owl:Class ; "pyrin domain-containing apaf1-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114548 ; - skos:exactMatch HGNC_symbol:NLRP3 ; + skos:exactMatch UMLS:C0268390, + UMLS:C0409818, + UMLS:C1424250, + UMLS:C1835697, + UMLS:C4521680, + UMLS:C4551895, + HGNC:16400, + HGNC_symbol:NLRP3 ; biolink:category biolink:Gene . OMIM:606417 a owl:Class ; @@ -220760,7 +228581,6 @@ OMIM:606417 a owl:Class ; PMID:20887964 ; RO:0002525 CHR:9606chr10q26.12 ; RO:0003303 OMIM:614858 ; - oboInOwl:hasDbXref UMLS:C1823190 ; oboInOwl:hasExactSynonym "WDR11", "bromodomain- and wd repeat-containing protein 2, formerly", "kiaa1351", @@ -220768,7 +228588,9 @@ OMIM:606417 a owl:Class ; "wdr15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55717 ; - skos:exactMatch HGNC_symbol:WDR11 ; + skos:exactMatch UMLS:C1823190, + HGNC:13831, + HGNC_symbol:WDR11 ; biolink:category biolink:Gene . OMIM:606419 a owl:Class ; @@ -220792,13 +228614,14 @@ OMIM:606419 a owl:Class ; PMID:9345108 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:600138 ; - oboInOwl:hasDbXref UMLS:C1423492 ; oboInOwl:hasExactSynonym "PRPF31", "pre-mrna-processing factor 31", "precursor mrna-processing factor 31, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26121 ; - skos:exactMatch HGNC_symbol:PRPF31 ; + skos:exactMatch UMLS:C1423492, + HGNC:15446, + HGNC_symbol:PRPF31 ; biolink:category biolink:Gene . OMIM:606420 a owl:Class ; @@ -220811,13 +228634,14 @@ OMIM:606420 a owl:Class ; PMID:21460837, PMID:24821968, PMID:25063526 ; - oboInOwl:hasDbXref UMLS:C1424154 ; oboInOwl:hasExactSynonym "ELMO1", "ced12, c. elegans, homolog of, 1", "engulfment and cell motility gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9844 ; - skos:exactMatch HGNC_symbol:ELMO1 ; + skos:exactMatch UMLS:C1424154, + HGNC:16286, + HGNC_symbol:ELMO1 ; biolink:category biolink:Gene . OMIM:606421 a owl:Class ; @@ -220831,38 +228655,41 @@ OMIM:606421 a owl:Class ; PMID:27476657 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:606893 ; - oboInOwl:hasDbXref UMLS:C1424843, - UMLS:C1847197 ; oboInOwl:hasExactSynonym "ELMO2", "ced12, c. elegans, homolog of, 2", "engulfment and cell motility gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63916 ; - skos:exactMatch HGNC_symbol:ELMO2 ; + skos:exactMatch UMLS:C1424843, + UMLS:C1847197, + HGNC:17233, + HGNC_symbol:ELMO2 ; biolink:category biolink:Gene . OMIM:606422 a owl:Class ; rdfs:label "ELMO3" ; IAO:0000142 PMID:11595183 ; - oboInOwl:hasDbXref UMLS:C1424879 ; oboInOwl:hasExactSynonym "ELMO3", "ced12, c. elegans, homolog of, 3", "engulfment and cell motility gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79767 ; - skos:exactMatch HGNC_symbol:ELMO3 ; + skos:exactMatch UMLS:C1424879, + HGNC:17289, + HGNC_symbol:ELMO3 ; biolink:category biolink:Gene . OMIM:606423 a owl:Class ; rdfs:label "DIRC1" ; IAO:0000142 PMID:11587072, PMID:11776380 ; - oboInOwl:hasDbXref UMLS:C1423709 ; oboInOwl:hasExactSynonym "DIRC1", "disrupted 1n renal carcinoma 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116093 ; - skos:exactMatch HGNC_symbol:DIRC1 ; + skos:exactMatch UMLS:C1423709, + HGNC:15760, + HGNC_symbol:DIRC1 ; biolink:category biolink:Gene . OMIM:606424 a owl:Class ; @@ -220875,7 +228702,6 @@ OMIM:606424 a owl:Class ; PMID:15210114, PMID:18176562, PMID:20651146 ; - oboInOwl:hasDbXref UMLS:C1422819 ; oboInOwl:hasExactSynonym "EGLN2", "egl9 family hypoxia-inducible factor 2", "egl9, c. elegans, homolog of, 2", @@ -220884,7 +228710,9 @@ OMIM:606424 a owl:Class ; "prolyl hydroxylase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112398 ; - skos:exactMatch HGNC_symbol:EGLN2 ; + skos:exactMatch UMLS:C1422819, + HGNC:14660, + HGNC_symbol:EGLN2 ; biolink:category biolink:Gene . OMIM:606425 a owl:Class ; @@ -220908,9 +228736,6 @@ OMIM:606425 a owl:Class ; PMID:31162141 ; RO:0002525 CHR:9606chr1q42.2 ; RO:0003303 OMIM:609070 ; - oboInOwl:hasDbXref UMLS:C1412925, - UMLS:C1836778, - UMLS:C1853286 ; oboInOwl:hasExactSynonym "EGLN1", "chromosome 1 open reading frame 12", "egl9 family hypoxia-inducible factor 1", @@ -220922,7 +228747,11 @@ OMIM:606425 a owl:Class ; "zinc finger mynd domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54583 ; - skos:exactMatch HGNC_symbol:EGLN1 ; + skos:exactMatch UMLS:C1412925, + UMLS:C1836778, + UMLS:C1853286, + HGNC:1232, + HGNC_symbol:EGLN1 ; biolink:category biolink:Gene . OMIM:606426 a owl:Class ; @@ -220937,7 +228766,6 @@ OMIM:606426 a owl:Class ; PMID:18334619, PMID:20651146, PMID:21620138 ; - oboInOwl:hasDbXref UMLS:C1422820 ; oboInOwl:hasExactSynonym "EGLN3", "egl9 family hypoxia-inducible factor 3", "egl9, c. elegans, homolog of, 3", @@ -220946,18 +228774,21 @@ OMIM:606426 a owl:Class ; "prolyl hydroxylase domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112399 ; - skos:exactMatch HGNC_symbol:EGLN3 ; + skos:exactMatch UMLS:C1422820, + HGNC:14661, + HGNC_symbol:EGLN3 ; biolink:category biolink:Gene . OMIM:606427 a owl:Class ; rdfs:label "ZNF320" ; IAO:0000142 PMID:11536051 ; - oboInOwl:hasDbXref UMLS:C1422228 ; oboInOwl:hasExactSynonym "ZNF320", "zinc finger protein 320" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162967 ; - skos:exactMatch HGNC_symbol:ZNF320 ; + skos:exactMatch UMLS:C1422228, + HGNC:13842, + HGNC_symbol:ZNF320 ; biolink:category biolink:Gene . OMIM:606428 a owl:Class ; @@ -220967,13 +228798,14 @@ OMIM:606428 a owl:Class ; PMID:1503396, PMID:16141793, PMID:8780690 ; - oboInOwl:hasDbXref UMLS:C1421327 ; oboInOwl:hasExactSynonym "UGT1A3", "udp-glycosyltransferase 1 family, polypeptide a3", "ugt1c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54659 ; - skos:exactMatch HGNC_symbol:UGT1A3 ; + skos:exactMatch UMLS:C1421327, + HGNC:12535, + HGNC_symbol:UGT1A3 ; biolink:category biolink:Gene . OMIM:606429 a owl:Class ; @@ -220983,13 +228815,14 @@ OMIM:606429 a owl:Class ; PMID:1339448, PMID:16141793, PMID:1898728 ; - oboInOwl:hasDbXref UMLS:C1421328 ; oboInOwl:hasExactSynonym "UGT1A4", "udp-glycosyltransferase 1 family, polypeptide a4", "ugt1d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54657 ; - skos:exactMatch HGNC_symbol:UGT1A4 ; + skos:exactMatch UMLS:C1421328, + HGNC:12536, + HGNC_symbol:UGT1A4 ; biolink:category biolink:Gene . OMIM:606430 a owl:Class ; @@ -220997,13 +228830,14 @@ OMIM:606430 a owl:Class ; IAO:0000142 PMID:11434514, PMID:1339448, PMID:16141793 ; - oboInOwl:hasDbXref UMLS:C1421329 ; oboInOwl:hasExactSynonym "UGT1A5", "udp-glycosyltransferase 1 family, polypeptide a5", "ugt1e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54579 ; - skos:exactMatch HGNC_symbol:UGT1A5 ; + skos:exactMatch UMLS:C1421329, + HGNC:12537, + HGNC_symbol:UGT1A5 ; biolink:category biolink:Gene . OMIM:606431 a owl:Class ; @@ -221013,14 +228847,15 @@ OMIM:606431 a owl:Class ; PMID:16141793, PMID:2108603, PMID:3141926 ; - oboInOwl:hasDbXref UMLS:C1421330 ; oboInOwl:hasExactSynonym "UGT1A6", "gnt1", "udp-glycosyltransferase 1 family, polypeptide a6", "ugt1f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54578 ; - skos:exactMatch HGNC_symbol:UGT1A6 ; + skos:exactMatch UMLS:C1421330, + HGNC:12538, + HGNC_symbol:UGT1A6 ; biolink:category biolink:Gene . OMIM:606432 a owl:Class ; @@ -221031,13 +228866,14 @@ OMIM:606432 a owl:Class ; PMID:14557274, PMID:16141793, PMID:9271343 ; - oboInOwl:hasDbXref UMLS:C1421331 ; oboInOwl:hasExactSynonym "UGT1A7", "udp-glycosyltransferase 1 family, polypeptide a7", "ugt1g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54577 ; - skos:exactMatch HGNC_symbol:UGT1A7 ; + skos:exactMatch UMLS:C1421331, + HGNC:12539, + HGNC_symbol:UGT1A7 ; biolink:category biolink:Gene . OMIM:606433 a owl:Class ; @@ -221049,13 +228885,14 @@ OMIM:606433 a owl:Class ; PMID:16141793, PMID:9535849, PMID:9647757 ; - oboInOwl:hasDbXref UMLS:C1421332 ; oboInOwl:hasExactSynonym "UGT1A8", "udp-glycosyltransferase 1 family, polypeptide a8", "ugt1h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54576 ; - skos:exactMatch HGNC_symbol:UGT1A8 ; + skos:exactMatch UMLS:C1421332, + HGNC:12540, + HGNC_symbol:UGT1A8 ; biolink:category biolink:Gene . OMIM:606434 a owl:Class ; @@ -221068,12 +228905,13 @@ OMIM:606434 a owl:Class ; PMID:16344532, PMID:1910331, PMID:2108603 ; - oboInOwl:hasDbXref UMLS:C1421333 ; oboInOwl:hasExactSynonym "UGT1A9", "udp-glycosyltransferase 1 family, polypeptide a9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54600 ; - skos:exactMatch HGNC_symbol:UGT1A9 ; + skos:exactMatch UMLS:C1421333, + HGNC:12541, + HGNC_symbol:UGT1A9 ; biolink:category biolink:Gene . OMIM:606435 a owl:Class ; @@ -221086,13 +228924,14 @@ OMIM:606435 a owl:Class ; PMID:9271343, PMID:9325166, PMID:9647757 ; - oboInOwl:hasDbXref UMLS:C1421323 ; oboInOwl:hasExactSynonym "UGT1A10", "udp-glycosyltransferase 1 family, polypeptide a10", "ugt1j" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54575 ; - skos:exactMatch HGNC_symbol:UGT1A10 ; + skos:exactMatch UMLS:C1421323, + HGNC:12531, + HGNC_symbol:UGT1A10 ; biolink:category biolink:Gene . OMIM:606436 a owl:Class ; @@ -221101,13 +228940,14 @@ OMIM:606436 a owl:Class ; PMID:11481455, PMID:11543631, PMID:8987811 ; - oboInOwl:hasDbXref UMLS:C1425486 ; oboInOwl:hasExactSynonym "SYT12", "synaptotagmin 12", "synaptotagmin-related gene 1, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91683 ; - skos:exactMatch HGNC_symbol:SYT12 ; + skos:exactMatch UMLS:C1425486, + HGNC:18381, + HGNC_symbol:SYT12 ; biolink:category biolink:Gene . OMIM:606437 a owl:Class ; @@ -221141,14 +228981,15 @@ OMIM:606439 a owl:Class ; PMID:8252041 ; RO:0002525 CHR:9606chr14q22.1 ; RO:0003303 OMIM:182600 ; - oboInOwl:hasDbXref UMLS:C1420348 ; oboInOwl:hasExactSynonym "ATL1", "atlastin", "atlastin gtpase 1", "spg3a gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51062 ; - skos:exactMatch HGNC_symbol:ATL1 ; + skos:exactMatch UMLS:C1420348, + HGNC:11231, + HGNC_symbol:ATL1 ; biolink:category biolink:Gene . OMIM:606440 a owl:Class ; @@ -221162,12 +229003,13 @@ OMIM:606440 a owl:Class ; PMID:26011646 ; RO:0002525 CHR:9606chr15q15.3 ; RO:0003303 OMIM:603720 ; - oboInOwl:hasDbXref UMLS:C1423927 ; oboInOwl:hasExactSynonym "STRC", "stereocilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161497 ; - skos:exactMatch HGNC_symbol:STRC ; + skos:exactMatch UMLS:C1423927, + HGNC:16035, + HGNC_symbol:STRC ; biolink:category biolink:Gene . OMIM:606441 a owl:Class ; @@ -221190,7 +229032,6 @@ OMIM:606441 a owl:Class ; PMID:27696117 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:610297 ; - oboInOwl:hasDbXref UMLS:C1825553 ; oboInOwl:hasExactSynonym "HTRA2", "htra serine peptidase 2", "htra, e. coli, homolog of, 2", @@ -221198,20 +229039,23 @@ OMIM:606441 a owl:Class ; "protease, serine, 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27429 ; - skos:exactMatch HGNC_symbol:HTRA2 ; + skos:exactMatch UMLS:C1825553, + HGNC:14348, + HGNC_symbol:HTRA2 ; biolink:category biolink:Gene . OMIM:606442 a owl:Class ; rdfs:label "ABI2" ; IAO:0000142 PMID:10964520, PMID:7590236 ; - oboInOwl:hasDbXref UMLS:C1332005 ; oboInOwl:hasExactSynonym "ABI2", "abl interactor 2", "abl-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10152 ; - skos:exactMatch HGNC_symbol:ABI2 ; + skos:exactMatch UMLS:C1332005, + HGNC:24011, + HGNC_symbol:ABI2 ; biolink:category biolink:Gene . OMIM:606443 a owl:Class ; @@ -221221,27 +229065,29 @@ OMIM:606443 a owl:Class ; PMID:18391022, PMID:9271389, PMID:9389645 ; - oboInOwl:hasDbXref UMLS:C1413703 ; oboInOwl:hasExactSynonym "CREB3", "basic leucine zipper protein", "camp response element-binding protein 3", "luman" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10488 ; - skos:exactMatch HGNC_symbol:CREB3 ; + skos:exactMatch UMLS:C1413703, + HGNC:2347, + HGNC_symbol:CREB3 ; biolink:category biolink:Gene . OMIM:606444 a owl:Class ; rdfs:label "CREBZF" ; IAO:0000142 PMID:10871379 ; - oboInOwl:hasDbXref UMLS:C1824789 ; oboInOwl:hasExactSynonym "CREBZF", "creb/atf basic leucine zipper transcription factor", "creb/atf bzip transcription factor", "zhangfei" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58487 ; - skos:exactMatch HGNC_symbol:CREBZF ; + skos:exactMatch UMLS:C1824789, + HGNC:24905, + HGNC_symbol:CREBZF ; biolink:category biolink:Gene . OMIM:606445 a owl:Class ; @@ -221252,9 +229098,9 @@ OMIM:606445 a owl:Class ; PMID:24033110, PMID:6979709, PMID:9665185 ; - oboInOwl:hasDbXref UMLS:C1847973 ; oboInOwl:hasExactSynonym "PPBL", - "persistent polyclonal b-cell lymphocytosis" . + "persistent polyclonal b-cell lymphocytosis" ; + skos:exactMatch UMLS:C1847973 . OMIM:606446 a owl:Class ; rdfs:label "SLAMF6" ; @@ -221264,7 +229110,6 @@ OMIM:606446 a owl:Class ; PMID:16778059, PMID:17045824, PMID:19759517 ; - oboInOwl:hasDbXref UMLS:C1427537 ; oboInOwl:hasExactSynonym "SLAMF6", "ly108", "natural killer-, t-, and b-cell antigen", @@ -221272,7 +229117,9 @@ OMIM:606446 a owl:Class ; "slam family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114836 ; - skos:exactMatch HGNC_symbol:SLAMF6 ; + skos:exactMatch UMLS:C1427537, + HGNC:21392, + HGNC_symbol:SLAMF6 ; biolink:category biolink:Gene . OMIM:606447 a owl:Class ; @@ -221283,12 +229130,13 @@ OMIM:606447 a owl:Class ; PMID:8543184, PMID:8828041, PMID:9580558 ; - oboInOwl:hasDbXref UMLS:C1419436 ; oboInOwl:hasExactSynonym "RNPS1", "rna-binding protein s1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10921 ; - skos:exactMatch HGNC_symbol:RNPS1 ; + skos:exactMatch UMLS:C1419436, + HGNC:10080, + HGNC_symbol:RNPS1 ; biolink:category biolink:Gene . OMIM:606448 a owl:Class ; @@ -221306,7 +229154,6 @@ OMIM:606448 a owl:Class ; PMID:9923614 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:617825 ; - oboInOwl:hasDbXref UMLS:C1425351 ; oboInOwl:hasExactSynonym "TXNRD2", "selenoprotein z", "thioredoxin reductase 2", @@ -221316,7 +229163,9 @@ OMIM:606448 a owl:Class ; "trxr2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10587 ; - skos:exactMatch HGNC_symbol:TXNRD2 ; + skos:exactMatch UMLS:C1425351, + HGNC:18155, + HGNC_symbol:TXNRD2 ; biolink:category biolink:Gene . OMIM:606449 a owl:Class ; @@ -221325,38 +229174,41 @@ OMIM:606449 a owl:Class ; PMID:11598267, PMID:18471976, PMID:22469786 ; - oboInOwl:hasDbXref UMLS:C1419090 ; oboInOwl:hasExactSynonym "PTP4A3", "prl3", "protein-tyrosine phosphatase, iia 4a, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11156 ; - skos:exactMatch HGNC_symbol:PTP4A3 ; + skos:exactMatch UMLS:C1419090, + HGNC:9636, + HGNC_symbol:PTP4A3 ; biolink:category biolink:Gene . OMIM:606450 a owl:Class ; rdfs:label "NET1" ; IAO:0000142 PMID:8649828 ; - oboInOwl:hasDbXref UMLS:C1422777 ; oboInOwl:hasExactSynonym "NET1", "neuroepithelial cell transforming gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10276 ; - skos:exactMatch HGNC_symbol:NET1 ; + skos:exactMatch UMLS:C1422777, + HGNC:14592, + HGNC_symbol:NET1 ; biolink:category biolink:Gene . OMIM:606452 a owl:Class ; rdfs:label "ZMAT3" ; IAO:0000142 PMID:11571644, PMID:9400996 ; - oboInOwl:hasDbXref UMLS:C1823954 ; oboInOwl:hasExactSynonym "ZMAT3", "wig1", "wildtype p53-induced gene", "zinc finger, matrin-type 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64393 ; - skos:exactMatch HGNC_symbol:ZMAT3 ; + skos:exactMatch UMLS:C1823954, + HGNC:29983, + HGNC_symbol:ZMAT3 ; biolink:category biolink:Gene . OMIM:606453 a owl:Class ; @@ -221369,7 +229221,6 @@ OMIM:606453 a owl:Class ; PMID:26206937 ; RO:0002525 CHR:9606chr4q31.3 ; RO:0003303 OMIM:614700 ; - oboInOwl:hasDbXref UMLS:C1413266 ; oboInOwl:hasExactSynonym "LRBA", "cdc4-like protein", "cell division cycle 4-like protein", @@ -221377,7 +229228,9 @@ OMIM:606453 a owl:Class ; "lipopolysaccharide-responsive, beige-like anchor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:987 ; - skos:exactMatch HGNC_symbol:LRBA ; + skos:exactMatch UMLS:C1413266, + HGNC:1742, + HGNC_symbol:LRBA ; biolink:category biolink:Gene . OMIM:606454 a owl:Class ; @@ -221391,28 +229244,30 @@ OMIM:606454 a owl:Class ; PMID:9032257 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:603896 ; - oboInOwl:hasDbXref UMLS:C1414328 ; oboInOwl:hasExactSynonym "EIF2B2", "eif2b-beta", "eukaryotic translation initiation factor 2b, beta", "eukaryotic translation initiation factor 2b, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8892 ; - skos:exactMatch HGNC_symbol:EIF2B2 ; + skos:exactMatch UMLS:C1414328, + HGNC:3258, + HGNC_symbol:EIF2B2 ; biolink:category biolink:Gene . OMIM:606455 a owl:Class ; rdfs:label "PPP1R13B" ; IAO:0000142 PMID:11684014, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1423080 ; oboInOwl:hasExactSynonym "PPP1R13B", "apoptosis-stimulating protein of p53, 1", "kiaa0771", "protein phosphatase 1, regulatory subunit 13b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23368 ; - skos:exactMatch HGNC_symbol:PPP1R13B ; + skos:exactMatch UMLS:C1423080, + HGNC:14950, + HGNC_symbol:PPP1R13B ; biolink:category biolink:Gene . OMIM:606456 a owl:Class ; @@ -221420,51 +229275,54 @@ OMIM:606456 a owl:Class ; IAO:0000142 PMID:11684019, PMID:11722795, PMID:9177783 ; - oboInOwl:hasDbXref UMLS:C1417806 ; oboInOwl:hasExactSynonym "NPM3", "nucleophosmin/nucleoplasmin family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10360 ; - skos:exactMatch HGNC_symbol:NPM3 ; + skos:exactMatch UMLS:C1417806, + HGNC:7931, + HGNC_symbol:NPM3 ; biolink:category biolink:Gene . OMIM:606457 a owl:Class ; rdfs:label "IBTK" ; IAO:0000142 PMID:11577348 ; - oboInOwl:hasDbXref UMLS:C1425132 ; oboInOwl:hasExactSynonym "IBTK", "inhibitor of bruton agammaglobulinemia tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25998 ; - skos:exactMatch HGNC_symbol:IBTK ; + skos:exactMatch UMLS:C1425132, + HGNC:17853, + HGNC_symbol:IBTK ; biolink:category biolink:Gene . OMIM:606458 a owl:Class ; rdfs:label "AXUD1" ; IAO:0000142 PMID:11526492 ; - oboInOwl:hasDbXref UMLS:C1422555 ; oboInOwl:hasExactSynonym "AXUD1", "axin1 upregulated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64651 ; - skos:exactMatch HGNC_symbol:CSRNP1 ; + skos:exactMatch UMLS:C1422555, + HGNC:14300, + HGNC_symbol:CSRNP1 ; biolink:category biolink:Gene . OMIM:606459 a owl:Class ; rdfs:label "OGFR" ; IAO:0000142 PMID:10677613 ; - oboInOwl:hasDbXref UMLS:C1423717 ; oboInOwl:hasExactSynonym "OGFR", "opioid growth factor receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11054 ; - skos:exactMatch HGNC_symbol:OGFR ; + skos:exactMatch UMLS:C1423717, + HGNC:15768, + HGNC_symbol:OGFR ; biolink:category biolink:Gene . OMIM:606461 a owl:Class ; rdfs:label "TGS1" ; IAO:0000142 PMID:11517327 ; - oboInOwl:hasDbXref UMLS:C1869126 ; oboInOwl:hasExactSynonym "TGS1", "nuclear receptor coactivator 6", "prip-interacting protein with methyltransferase domain", @@ -221472,7 +229330,9 @@ OMIM:606461 a owl:Class ; "trimethylguanosine synthase, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:96764 ; - skos:exactMatch HGNC_symbol:TGS1 ; + skos:exactMatch UMLS:C1869126, + HGNC:17843, + HGNC_symbol:TGS1 ; biolink:category biolink:Gene . OMIM:606462 a owl:Class ; @@ -221503,10 +229363,6 @@ OMIM:606462 a owl:Class ; PMID:8812457 ; RO:0002525 CHR:9606chr8q24.11 ; RO:0003303 OMIM:614701 ; - oboInOwl:hasDbXref UMLS:C1419235, - UMLS:C1969653, - UMLS:C3553517, - UMLS:C5394577 ; oboInOwl:hasExactSynonym "RAD21", "hr21", "kiaa0078", @@ -221516,7 +229372,12 @@ OMIM:606462 a owl:Class ; "sister chromatid cohesion 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5885 ; - skos:exactMatch HGNC_symbol:RAD21 ; + skos:exactMatch UMLS:C1419235, + UMLS:C1969653, + UMLS:C3553517, + UMLS:C5394577, + HGNC:9811, + HGNC_symbol:RAD21 ; biolink:category biolink:Gene . OMIM:606463 a owl:Class ; @@ -221645,15 +229506,6 @@ OMIM:606463 a owl:Class ; PMID:9683600 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:168600 ; - oboInOwl:hasDbXref UMLS:C0268250, - UMLS:C0268251, - UMLS:C1414998, - UMLS:C1842704, - UMLS:C1847917, - UMLS:C1856476, - UMLS:C1961835, - UMLS:C2676021, - UMLS:C3148775 ; oboInOwl:hasExactSynonym "GBA", "acid beta-glucosidase", "beta-gc", @@ -221665,7 +229517,17 @@ OMIM:606463 a owl:Class ; "glucosylceramidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2629 ; - skos:exactMatch HGNC_symbol:GBA ; + skos:exactMatch UMLS:C0268250, + UMLS:C0268251, + UMLS:C1414998, + UMLS:C1842704, + UMLS:C1847917, + UMLS:C1856476, + UMLS:C1961835, + UMLS:C2676021, + UMLS:C3148775, + HGNC:4177, + HGNC_symbol:GBA ; biolink:category biolink:Gene . OMIM:606464 a owl:Class ; @@ -221703,17 +229565,18 @@ OMIM:606464 a owl:Class ; PMID:32273468 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:613313 ; - oboInOwl:hasDbXref UMLS:C1423607, - UMLS:C1865616, - UMLS:C3150862, - UMLS:C4016968 ; oboInOwl:hasExactSynonym "HAMP", "hepcidin", "hepcidin antimicrobial peptide", "liver-expressed antimicrobial peptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57817 ; - skos:exactMatch HGNC_symbol:HAMP ; + skos:exactMatch UMLS:C1423607, + UMLS:C1865616, + UMLS:C3150862, + UMLS:C4016968, + HGNC:15598, + HGNC_symbol:HAMP ; biolink:category biolink:Gene . OMIM:606465 a owl:Class ; @@ -221722,64 +229585,69 @@ OMIM:606465 a owl:Class ; PMID:17438289, PMID:21937448, PMID:22367544 ; - oboInOwl:hasDbXref UMLS:C1422735 ; oboInOwl:hasExactSynonym "KLF15", "kidney-enriched kruppel-like factor", "kruppel-like factor 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28999 ; - skos:exactMatch HGNC_symbol:KLF15 ; + skos:exactMatch UMLS:C1422735, + HGNC:14536, + HGNC_symbol:KLF15 ; biolink:category biolink:Gene . OMIM:606466 a owl:Class ; rdfs:label "PRAM1" ; IAO:0000142 PMID:11301322 ; - oboInOwl:hasDbXref UMLS:C1826672 ; oboInOwl:hasExactSynonym "PRAM1", "pml-rara regulated adaptor molecule 1", "pml-rara target gene encoding an adaptor molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84106 ; - skos:exactMatch HGNC_symbol:PRAM1 ; + skos:exactMatch UMLS:C1826672, + HGNC:30091, + HGNC_symbol:PRAM1 ; biolink:category biolink:Gene . OMIM:606467 a owl:Class ; rdfs:label "ALDH8A1" ; IAO:0000142 PMID:11007799 ; - oboInOwl:hasDbXref UMLS:C1423512 ; oboInOwl:hasExactSynonym "2-aminomuconate semialdehyde dehydrogenase", "ALDH8A1", "aldehyde dehydrogenase 8 family, member a1", "aldh12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64577 ; - skos:exactMatch HGNC_symbol:ALDH8A1 ; + skos:exactMatch UMLS:C1423512, + HGNC:15471, + HGNC_symbol:ALDH8A1 ; biolink:category biolink:Gene . OMIM:606468 a owl:Class ; rdfs:label "GAR1" ; IAO:0000142 PMID:10757788, PMID:9159079 ; - oboInOwl:hasDbXref UMLS:C1422525 ; oboInOwl:hasExactSynonym "GAR1", "gar1 ribonucleoprotein", "gar1, s. cerevisiae, homolog of", "nucleolar protein family a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54433 ; - skos:exactMatch HGNC_symbol:GAR1 ; + skos:exactMatch UMLS:C1422525, + HGNC:14264, + HGNC_symbol:GAR1 ; biolink:category biolink:Gene . OMIM:606469 a owl:Class ; rdfs:label "RNF29" ; IAO:0000142 PMID:11243782 ; - oboInOwl:hasDbXref UMLS:C1540061 ; oboInOwl:hasExactSynonym "RNF29", "muscle-specific ring finger protein 2", "ring finger protein 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84675 ; - skos:exactMatch HGNC_symbol:TRIM55 ; + skos:exactMatch UMLS:C1540061, + HGNC:14215, + HGNC_symbol:TRIM55 ; biolink:category biolink:Gene . OMIM:606470 a owl:Class ; @@ -221789,14 +229657,15 @@ OMIM:606470 a owl:Class ; PMID:9159079 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:613987 ; - oboInOwl:hasDbXref UMLS:C1422601 ; oboInOwl:hasExactSynonym "NHP2", "nhp2 ribonucleoprotein", "nhp2, s. cerevisiae, homolog of", "nucleolar protein family a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55651 ; - skos:exactMatch HGNC_symbol:NHP2 ; + skos:exactMatch UMLS:C1422601, + HGNC:14377, + HGNC_symbol:NHP2 ; biolink:category biolink:Gene . OMIM:606471 a owl:Class ; @@ -221807,14 +229676,15 @@ OMIM:606471 a owl:Class ; PMID:9843512 ; RO:0002525 CHR:9606chr15q14 ; RO:0003303 OMIM:224230 ; - oboInOwl:hasDbXref UMLS:C1422602 ; oboInOwl:hasExactSynonym "NOP10", "nop10 ribonucleoprotein", "nop10, s. cerevisiae, homolog of", "nucleolar protein family a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55505 ; - skos:exactMatch HGNC_symbol:NOP10 ; + skos:exactMatch UMLS:C1422602, + HGNC:14378, + HGNC_symbol:NOP10 ; biolink:category biolink:Gene . OMIM:606472 a owl:Class ; @@ -221823,7 +229693,6 @@ OMIM:606472 a owl:Class ; PMID:14716005, PMID:23708140, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1423601 ; oboInOwl:hasExactSynonym "SS18L1", "calcium-responsive transactivator", "kiaa0693", @@ -221831,32 +229700,36 @@ OMIM:606472 a owl:Class ; "ss18l1 subunit of baf chromatin remodeling complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26039 ; - skos:exactMatch HGNC_symbol:SS18L1 ; + skos:exactMatch UMLS:C1423601, + HGNC:15592, + HGNC_symbol:SS18L1 ; biolink:category biolink:Gene . OMIM:606473 a owl:Class ; rdfs:label "SS18L2" ; IAO:0000142 PMID:10072425, PMID:11435705 ; - oboInOwl:hasDbXref UMLS:C1423602 ; oboInOwl:hasExactSynonym "SS18L2", "ss18-like gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51188 ; - skos:exactMatch HGNC_symbol:SS18L2 ; + skos:exactMatch UMLS:C1423602, + HGNC:15593, + HGNC_symbol:SS18L2 ; biolink:category biolink:Gene . OMIM:606474 a owl:Class ; rdfs:label "RNF30" ; IAO:0000142 PMID:10953002, PMID:11243782 ; - oboInOwl:hasDbXref UMLS:C1540060 ; oboInOwl:hasExactSynonym "RNF30", "muscle-specific ring finger protein 3", "ring finger protein 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57159 ; - skos:exactMatch HGNC_symbol:TRIM54 ; + skos:exactMatch UMLS:C1540060, + HGNC:16008, + HGNC_symbol:TRIM54 ; biolink:category biolink:Gene . OMIM:606475 a owl:Class ; @@ -221868,14 +229741,15 @@ OMIM:606475 a owl:Class ; PMID:30124850 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:613646 ; - oboInOwl:hasDbXref UMLS:C1540297 ; oboInOwl:hasExactSynonym "8d6 antigen", "CD320", "cd320 antigen", "transcobalamin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51293 ; - skos:exactMatch HGNC_symbol:CD320 ; + skos:exactMatch UMLS:C1540297, + HGNC:16692, + HGNC_symbol:CD320 ; biolink:category biolink:Gene . OMIM:606476 a owl:Class ; @@ -221884,13 +229758,14 @@ OMIM:606476 a owl:Class ; PMID:14517551, PMID:18084290, PMID:20045869 ; - oboInOwl:hasDbXref UMLS:C1423036, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "ITPKC", "inositol 1,4,5-trisphosphate 3-kinase c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80271 ; - skos:exactMatch HGNC_symbol:ITPKC ; + skos:exactMatch UMLS:C1423036, + UMLS:C4015968, + HGNC:14897, + HGNC_symbol:ITPKC ; biolink:category biolink:Gene . OMIM:606477 a owl:Class ; @@ -221898,12 +229773,13 @@ OMIM:606477 a owl:Class ; IAO:0000142 PMID:11054547, PMID:19483194, PMID:20075918 ; - oboInOwl:hasDbXref UMLS:C1422619 ; oboInOwl:hasExactSynonym "SRR", "serine racemase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63826 ; - skos:exactMatch HGNC_symbol:SRR ; + skos:exactMatch UMLS:C1422619, + HGNC:14398, + HGNC_symbol:SRR ; biolink:category biolink:Gene . OMIM:606478 a owl:Class ; @@ -221929,12 +229805,13 @@ OMIM:606478 a owl:Class ; PMID:25482530 ; RO:0002525 CHR:9606chr7q31.33 ; RO:0003303 OMIM:615848 ; - oboInOwl:hasDbXref UMLS:C1538704 ; oboInOwl:hasExactSynonym "POT1", "protection of telomeres 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25913 ; - skos:exactMatch HGNC_symbol:POT1 ; + skos:exactMatch UMLS:C1538704, + HGNC:17284, + HGNC_symbol:POT1 ; biolink:category biolink:Gene . OMIM:606479 a owl:Class ; @@ -221944,14 +229821,15 @@ OMIM:606479 a owl:Class ; PMID:17582332, PMID:29120426, PMID:8576240 ; - oboInOwl:hasDbXref UMLS:C1422547 ; oboInOwl:hasExactSynonym "NLGN2", "kiaa1366", "neuroligin 2", "nl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57555 ; - skos:exactMatch HGNC_symbol:NLGN2 ; + skos:exactMatch UMLS:C1422547, + HGNC:14290, + HGNC_symbol:NLGN2 ; biolink:category biolink:Gene . OMIM:606480 a owl:Class ; @@ -221986,27 +229864,29 @@ OMIM:606480 a owl:Class ; PMID:9700155 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:275210 ; - oboInOwl:hasDbXref UMLS:C1421586 ; oboInOwl:hasExactSynonym "ZMPSTE24", "face1", "ste24, s. cerevisiae, homolog of", "zinc metalloproteinase ste24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10269 ; - skos:exactMatch HGNC_symbol:ZMPSTE24 ; + skos:exactMatch UMLS:C1421586, + HGNC:12877, + HGNC_symbol:ZMPSTE24 ; biolink:category biolink:Gene . OMIM:606481 a owl:Class ; rdfs:label "PIB5PA" ; IAO:0000142 PMID:10593988 ; - oboInOwl:hasDbXref UMLS:C1418557 ; oboInOwl:hasExactSynonym "PIB5PA", "inositol polyphosphate 5-phosphatase", "phosphatidylinositol 4,5-bisphosphate 5-phosphatase, a", "proline-rich inositol polyphosphate 5-phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27124 ; - skos:exactMatch HGNC_symbol:INPP5J ; + skos:exactMatch UMLS:C1418557, + HGNC:8956, + HGNC_symbol:INPP5J ; biolink:category biolink:Gene . OMIM:606482 a owl:Class ; @@ -222021,8 +229901,6 @@ OMIM:606482 a owl:Class ; PMID:28364294, PMID:4855423, PMID:752065 ; - oboInOwl:hasDbXref UMLS:C1847902, - UMLS:C1847903 ; oboInOwl:hasExactSynonym "CMTDIB", "charcot-marie-tooth disease, axonal, iia 2m", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2m", @@ -222034,6 +229912,8 @@ OMIM:606482 a owl:Class ; "cmtdi1", "di-cmtb" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1847902, + UMLS:C1847903 ; biolink:category biolink:Disease . OMIM:606484 a owl:Class ; @@ -222048,13 +229928,14 @@ OMIM:606484 a owl:Class ; PMID:8428777, PMID:8508536, PMID:8576259 ; - oboInOwl:hasDbXref UMLS:C1423644 ; oboInOwl:hasExactSynonym "MTPN", "myotrophin", "v-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136319 ; - skos:exactMatch HGNC_symbol:MTPN ; + skos:exactMatch UMLS:C1423644, + HGNC:15667, + HGNC_symbol:MTPN ; biolink:category biolink:Gene . OMIM:606485 a owl:Class ; @@ -222067,7 +229948,6 @@ OMIM:606485 a owl:Class ; PMID:22231121, PMID:22244331, PMID:22244332 ; - oboInOwl:hasDbXref UMLS:C1423006 ; oboInOwl:hasExactSynonym "POLR2M", "gcom1 downstream gene", "glutamate receptor, ionotropic, n-methyl d-aspartate-like 1a", @@ -222076,7 +229956,9 @@ OMIM:606485 a owl:Class ; "polymerase ii, rna, subunit m" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81488 ; - skos:exactMatch HGNC_symbol:POLR2M ; + skos:exactMatch UMLS:C1423006, + HGNC:14862, + HGNC_symbol:POLR2M ; biolink:category biolink:Gene . OMIM:606486 a owl:Class ; @@ -222087,7 +229969,6 @@ OMIM:606486 a owl:Class ; PMID:16730941, PMID:19129479, PMID:26634441 ; - oboInOwl:hasDbXref UMLS:C1538454 ; oboInOwl:hasExactSynonym "CHMP1B", "charged multivesicular body protein 1b", "chmp family, member 1b", @@ -222095,20 +229976,23 @@ OMIM:606486 a owl:Class ; "chromosome 18 open reading frame 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57132 ; - skos:exactMatch HGNC_symbol:CHMP1B ; + skos:exactMatch UMLS:C1538454, + HGNC:24287, + HGNC_symbol:CHMP1B ; biolink:category biolink:Gene . OMIM:606487 a owl:Class ; rdfs:label "PLAAT1" ; IAO:0000142 PMID:10542256, PMID:11474175 ; - oboInOwl:hasDbXref UMLS:C1423056 ; oboInOwl:hasExactSynonym "PLAAT1", "hras-like suppressor", "phospholipase a and acetyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57110 ; - skos:exactMatch HGNC_symbol:PLAAT1 ; + skos:exactMatch UMLS:C1423056, + HGNC:14922, + HGNC_symbol:PLAAT1 ; biolink:category biolink:Gene . OMIM:606488 a owl:Class ; @@ -222116,14 +230000,15 @@ OMIM:606488 a owl:Class ; IAO:0000142 PMID:11719186, PMID:11812149, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1428669 ; oboInOwl:hasExactSynonym "EXOSC7", "exosome component 7", "kiaa0116", "ribosomal rna-processing protein 42, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23016 ; - skos:exactMatch HGNC_symbol:EXOSC7 ; + skos:exactMatch UMLS:C1428669, + HGNC:28112, + HGNC_symbol:EXOSC7 ; biolink:category biolink:Gene . OMIM:606489 a owl:Class ; @@ -222137,38 +230022,41 @@ OMIM:606489 a owl:Class ; PMID:25149867 ; RO:0002525 CHR:9606chr9p13.2 ; RO:0003303 OMIM:614678 ; - oboInOwl:hasDbXref UMLS:C1425194 ; oboInOwl:hasExactSynonym "EXOSC3", "exosome component 3", "ribosomal rna-processing protein 40, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51010 ; - skos:exactMatch HGNC_symbol:EXOSC3 ; + skos:exactMatch UMLS:C1425194, + HGNC:17944, + HGNC_symbol:EXOSC3 ; biolink:category biolink:Gene . OMIM:606490 a owl:Class ; rdfs:label "EXOSC6" ; IAO:0000142 PMID:11719186 ; - oboInOwl:hasDbXref UMLS:C1425980 ; oboInOwl:hasExactSynonym "EXOSC6", "exosome component 6", "mrna transport regulator 3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118460 ; - skos:exactMatch HGNC_symbol:EXOSC6 ; + skos:exactMatch UMLS:C1425980, + HGNC:19055, + HGNC_symbol:EXOSC6 ; biolink:category biolink:Gene . OMIM:606491 a owl:Class ; rdfs:label "EXOSC4" ; IAO:0000142 PMID:11110791, PMID:11719186 ; - oboInOwl:hasDbXref UMLS:C1425367 ; oboInOwl:hasExactSynonym "EXOSC4", "exosome component 4", "ribosomal rna-processing protein 41, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54512 ; - skos:exactMatch HGNC_symbol:EXOSC4 ; + skos:exactMatch UMLS:C1425367, + HGNC:18189, + HGNC_symbol:EXOSC4 ; biolink:category biolink:Gene . OMIM:606492 a owl:Class ; @@ -222178,13 +230066,14 @@ OMIM:606492 a owl:Class ; PMID:11812149 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:619576 ; - oboInOwl:hasDbXref UMLS:C1428398 ; oboInOwl:hasExactSynonym "EXOSC5", "exosome component 5", "ribosomal rna-processing protein 46, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56915 ; - skos:exactMatch HGNC_symbol:EXOSC5 ; + skos:exactMatch UMLS:C1428398, + HGNC:24662, + HGNC_symbol:EXOSC5 ; biolink:category biolink:Gene . OMIM:606493 a owl:Class ; @@ -222193,13 +230082,14 @@ OMIM:606493 a owl:Class ; PMID:11812149 ; RO:0002525 CHR:9606chr10q24.1 ; RO:0003303 OMIM:619304 ; - oboInOwl:hasDbXref UMLS:C1424876 ; oboInOwl:hasExactSynonym "EXOSC1", "csl4, s. cerevisiae, homolog of", "exosome component 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51013 ; - skos:exactMatch HGNC_symbol:EXOSC1 ; + skos:exactMatch UMLS:C1424876, + HGNC:17286, + HGNC_symbol:EXOSC1 ; biolink:category biolink:Gene . OMIM:606494 a owl:Class ; @@ -222215,9 +230105,6 @@ OMIM:606494 a owl:Class ; PMID:8333853 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:611090 ; - oboInOwl:hasDbXref UMLS:C1539861, - UMLS:C1970200, - UMLS:C3554316 ; oboInOwl:hasExactSynonym "ST3GAL3", "alpha-2,3-sialyltransferase 2", "n-acetyllactosaminide alpha-2,3-sialyltransferase", @@ -222226,21 +230113,26 @@ OMIM:606494 a owl:Class ; "st3n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6487 ; - skos:exactMatch HGNC_symbol:ST3GAL3 ; + skos:exactMatch UMLS:C1539861, + UMLS:C1970200, + UMLS:C3554316, + HGNC:10866, + HGNC_symbol:ST3GAL3 ; biolink:category biolink:Gene . OMIM:606495 a owl:Class ; rdfs:label "MARK4" ; IAO:0000142 PMID:11326310, PMID:11347906 ; - oboInOwl:hasDbXref UMLS:C1422048 ; oboInOwl:hasExactSynonym "MARK4", "kiaa1860", "map/microtubule affinity-regulating kinase 4", "map/microtubule affinity-regulating kinase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57787 ; - skos:exactMatch HGNC_symbol:MARK4 ; + skos:exactMatch UMLS:C1422048, + HGNC:13538, + HGNC_symbol:MARK4 ; biolink:category biolink:Gene . OMIM:606496 a owl:Class ; @@ -222255,38 +230147,41 @@ OMIM:606496 a owl:Class ; PMID:22244845 ; RO:0002525 CHR:9606chr6p12.2 ; RO:0003303 OMIM:613956 ; - oboInOwl:hasDbXref UMLS:C1424252 ; oboInOwl:hasExactSynonym "IL17F", "interleukin 17f", "ml1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112744 ; - skos:exactMatch HGNC_symbol:IL17F ; + skos:exactMatch UMLS:C1424252, + HGNC:16404, + HGNC_symbol:IL17F ; biolink:category biolink:Gene . OMIM:606497 a owl:Class ; rdfs:label "UGT2B28" ; IAO:0000142 PMID:11300766, PMID:19572376 ; - oboInOwl:hasDbXref UMLS:C1422012 ; oboInOwl:hasExactSynonym "UGT2B28", "uridine diphosphate glycosyltransferase 2 family, member b28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54490 ; - skos:exactMatch HGNC_symbol:UGT2B28 ; + skos:exactMatch UMLS:C1422012, + HGNC:13479, + HGNC_symbol:UGT2B28 ; biolink:category biolink:Gene . OMIM:606498 a owl:Class ; rdfs:label "MS4A3" ; IAO:0000142 PMID:7524084 ; - oboInOwl:hasDbXref UMLS:C1417328 ; oboInOwl:hasExactSynonym "MS4A3", "cd20 antigen-like", "hematopoietic cell 4-transmembrane protein", "membrane-spanning 4-domains, subfamily a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:932 ; - skos:exactMatch HGNC_symbol:MS4A3 ; + skos:exactMatch UMLS:C1417328, + HGNC:7317, + HGNC_symbol:MS4A3 ; biolink:category biolink:Gene . OMIM:606499 a owl:Class ; @@ -222294,14 +230189,15 @@ OMIM:606499 a owl:Class ; IAO:0000142 PMID:11162526, PMID:11245982, PMID:11401424 ; - oboInOwl:hasDbXref UMLS:C1421959 ; oboInOwl:hasExactSynonym "MS4A5", "cd20 antigen-like 2", "membrane-spanning 4-domains, subfamily a, member 5", "testis-expressed transmembrane 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64232 ; - skos:exactMatch HGNC_symbol:MS4A5 ; + skos:exactMatch UMLS:C1421959, + HGNC:13374, + HGNC_symbol:MS4A5 ; biolink:category biolink:Gene . OMIM:606500 a owl:Class ; @@ -222309,28 +230205,30 @@ OMIM:606500 a owl:Class ; IAO:0000142 PMID:11481438, PMID:12406855, PMID:22155607 ; - oboInOwl:hasDbXref UMLS:C1425488 ; oboInOwl:hasExactSynonym "SCGB3A1", "hin1", "secretoglobin, family 3a, member 1", "uteroglobin-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92304 ; - skos:exactMatch HGNC_symbol:SCGB3A1 ; + skos:exactMatch UMLS:C1425488, + HGNC:18384, + HGNC_symbol:SCGB3A1 ; biolink:category biolink:Gene . OMIM:606501 a owl:Class ; rdfs:label "MTMR12" ; IAO:0000142 PMID:11214970, PMID:11504939 ; - oboInOwl:hasDbXref UMLS:C1538024 ; oboInOwl:hasExactSynonym "MTMR12", "kiaa1682", "myotubularin-related protein 12", "phosphatidylinositol 3-phosphate 3-phosphatase adaptor subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54545 ; - skos:exactMatch HGNC_symbol:MTMR12 ; + skos:exactMatch UMLS:C1538024, + HGNC:18191, + HGNC_symbol:MTMR12 ; biolink:category biolink:Gene . OMIM:606502 a owl:Class ; @@ -222338,13 +230236,14 @@ OMIM:606502 a owl:Class ; IAO:0000142 PMID:11245982, PMID:11401424, PMID:11685457 ; - oboInOwl:hasDbXref UMLS:C1421963 ; oboInOwl:hasExactSynonym "MS4A7", "cd20/fcer1b family member 4", "membrane-spanning 4-domains, subfamily a, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58475 ; - skos:exactMatch HGNC_symbol:MS4A7 ; + skos:exactMatch UMLS:C1421963, + HGNC:13378, + HGNC_symbol:MS4A7 ; biolink:category biolink:Gene . OMIM:606503 a owl:Class ; @@ -222353,41 +230252,44 @@ OMIM:606503 a owl:Class ; PMID:11701123, PMID:14702045, PMID:18311137 ; - oboInOwl:hasDbXref UMLS:C1424877 ; oboInOwl:hasExactSynonym "SUV39H2", "su(var)3-9, drosophila, homolog of, 2", "suppressor of variegation 3-9, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79723 ; - skos:exactMatch HGNC_symbol:SUV39H2 ; + skos:exactMatch UMLS:C1424877, + HGNC:17287, + HGNC_symbol:SUV39H2 ; biolink:category biolink:Gene . OMIM:606504 a owl:Class ; rdfs:label "CASC3" ; IAO:0000142 PMID:14973490, PMID:7490069 ; - oboInOwl:hasDbXref UMLS:C1424704 ; oboInOwl:hasExactSynonym "CASC3", "barentsz, drosophila, homolog of", "cancer susceptibility candidate 3", "mln51 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22794 ; - skos:exactMatch HGNC_symbol:CASC3 ; + skos:exactMatch UMLS:C1424704, + HGNC:17040, + HGNC_symbol:CASC3 ; biolink:category biolink:Gene . OMIM:606505 a owl:Class ; rdfs:label "PINX1" ; IAO:0000142 PMID:11701125, PMID:18202258 ; - oboInOwl:hasDbXref UMLS:C1847895 ; oboInOwl:hasExactSynonym "PINX1", "lpts", "pin2-interacting protein 1", "trf1-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54984 ; - skos:exactMatch HGNC_symbol:PINX1 ; + skos:exactMatch UMLS:C1847895, + HGNC:30046, + HGNC_symbol:PINX1 ; biolink:category biolink:Gene . OMIM:606506 a owl:Class ; @@ -222401,20 +230303,20 @@ OMIM:606507 a owl:Class ; OMIM:606508 a owl:Class ; rdfs:label "FCRL1" ; IAO:0000142 PMID:11493702 ; - oboInOwl:hasDbXref UMLS:C1539511 ; oboInOwl:hasExactSynonym "FCRL1", "fc receptor-like protein 1", "fcrh1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115350 ; - skos:exactMatch HGNC_symbol:FCRL1 ; + skos:exactMatch UMLS:C1539511, + HGNC:18509, + HGNC_symbol:FCRL1 ; biolink:category biolink:Gene . OMIM:606509 a owl:Class ; rdfs:label "FCRL2" ; IAO:0000142 PMID:11162587, PMID:11493702 ; - oboInOwl:hasDbXref UMLS:C1539512 ; oboInOwl:hasExactSynonym "FCRL2", "fc receptor-like protein 2", "fcrh2", @@ -222424,7 +230326,9 @@ OMIM:606509 a owl:Class ; "sh2 domain-containing phosphatase anchor protein 1c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79368 ; - skos:exactMatch HGNC_symbol:FCRL2 ; + skos:exactMatch UMLS:C1539512, + HGNC:14875, + HGNC_symbol:FCRL2 ; biolink:category biolink:Gene . OMIM:606510 a owl:Class ; @@ -222432,13 +230336,14 @@ OMIM:606510 a owl:Class ; IAO:0000142 PMID:11493702, PMID:15838509, PMID:17952073 ; - oboInOwl:hasDbXref UMLS:C1539513 ; oboInOwl:hasExactSynonym "FCRL3", "fc receptor-like protein 3", "fcrh3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115352 ; - skos:exactMatch HGNC_symbol:FCRL3 ; + skos:exactMatch UMLS:C1539513, + HGNC:18506, + HGNC_symbol:FCRL3 ; biolink:category biolink:Gene . OMIM:606511 a owl:Class ; @@ -222447,14 +230352,15 @@ OMIM:606511 a owl:Class ; PMID:15289607, PMID:18492799, PMID:9108484 ; - oboInOwl:hasDbXref UMLS:C1417033 ; oboInOwl:hasExactSynonym "MARK1", "kiaa1477", "map/microtubule affinity-regulating kinase 1", "mark" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4139 ; - skos:exactMatch HGNC_symbol:MARK1 ; + skos:exactMatch UMLS:C1417033, + HGNC:6896, + HGNC_symbol:MARK1 ; biolink:category biolink:Gene . OMIM:606512 a owl:Class ; @@ -222463,13 +230369,14 @@ OMIM:606512 a owl:Class ; PMID:11179684, PMID:12354780, PMID:23035120 ; - oboInOwl:hasDbXref UMLS:C1418241 ; oboInOwl:hasExactSynonym "PACSIN1", "kiaa1379", "protein kinase c and casein kinase substrate 1n neurons 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29993 ; - skos:exactMatch HGNC_symbol:PACSIN1 ; + skos:exactMatch UMLS:C1418241, + HGNC:8570, + HGNC_symbol:PACSIN1 ; biolink:category biolink:Gene . OMIM:606513 a owl:Class ; @@ -222478,18 +230385,18 @@ OMIM:606513 a owl:Class ; PMID:11082044, PMID:11179684, PMID:17320047 ; - oboInOwl:hasDbXref UMLS:C1418243 ; oboInOwl:hasExactSynonym "PACSIN3", "protein kinase c and casein kinase substrate 1n neurons 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29763 ; - skos:exactMatch HGNC_symbol:PACSIN3 ; + skos:exactMatch UMLS:C1418243, + HGNC:8572, + HGNC_symbol:PACSIN3 ; biolink:category biolink:Gene . OMIM:606514 a owl:Class ; rdfs:label "CYTH4" ; IAO:0000142 PMID:10652308 ; - oboInOwl:hasDbXref UMLS:C1418982 ; oboInOwl:hasExactSynonym "CYTH4", "cyt4", "cytohesin 4", @@ -222497,7 +230404,9 @@ OMIM:606514 a owl:Class ; "pleckstrin homology, sec7, and coiled-coil domains protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27128 ; - skos:exactMatch HGNC_symbol:CYTH4 ; + skos:exactMatch UMLS:C1418982, + HGNC:9505, + HGNC_symbol:CYTH4 ; biolink:category biolink:Gene . OMIM:606515 a owl:Class ; @@ -222510,13 +230419,14 @@ OMIM:606515 a owl:Class ; PMID:18249148, PMID:8139910, PMID:954090 ; - oboInOwl:hasDbXref UMLS:C1419400 ; oboInOwl:hasExactSynonym "RN7SK", "rna, 7sk, small nuclear", "snrna, 7sk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125050 ; - skos:exactMatch HGNC_symbol:RN7SK ; + skos:exactMatch UMLS:C1419400, + HGNC:10037, + HGNC_symbol:RN7SK ; biolink:category biolink:Gene . OMIM:606516 a owl:Class ; @@ -222535,7 +230445,6 @@ OMIM:606516 a owl:Class ; PMID:23739326, PMID:27063795, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1417055 ; oboInOwl:hasExactSynonym "MBNL1", "cug triplet repeat expansion double-stranded rna-binding protein", "kiaa0428", @@ -222545,7 +230454,9 @@ OMIM:606516 a owl:Class ; "muscleblind-like splicing regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4154 ; - skos:exactMatch HGNC_symbol:MBNL1 ; + skos:exactMatch UMLS:C1417055, + HGNC:6923, + HGNC_symbol:MBNL1 ; biolink:category biolink:Gene . OMIM:606517 a owl:Class ; @@ -222556,13 +230467,14 @@ OMIM:606517 a owl:Class ; PMID:18172554, PMID:28393844, PMID:9887096 ; - oboInOwl:hasDbXref UMLS:C1412294 ; oboInOwl:hasExactSynonym "AHRR", "arylhydrocarbon receptor repressor", "kiaa1234" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57491 ; - skos:exactMatch HGNC_symbol:AHRR ; + skos:exactMatch UMLS:C1412294, + HGNC:346, + HGNC_symbol:AHRR ; biolink:category biolink:Gene . OMIM:606518 a owl:Class ; @@ -222581,7 +230493,6 @@ OMIM:606518 a owl:Class ; PMID:20566714, PMID:21339644, PMID:9658108 ; - oboInOwl:hasDbXref UMLS:C1425141 ; oboInOwl:hasExactSynonym "HAVCR1", "havcr", "hepatitis a virus cellular receptor 1", @@ -222589,7 +230500,9 @@ OMIM:606518 a owl:Class ; "t-cell immunoglobulin and mucin domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26762 ; - skos:exactMatch HGNC_symbol:HAVCR1 ; + skos:exactMatch UMLS:C1425141, + HGNC:17866, + HGNC_symbol:HAVCR1 ; biolink:category biolink:Gene . OMIM:606520 a owl:Class ; @@ -222600,14 +230513,15 @@ OMIM:606520 a owl:Class ; PMID:23112346 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:617441 ; - oboInOwl:hasDbXref UMLS:C1422285 ; oboInOwl:hasExactSynonym "MPIG6B", "chromosome 6 open reading frame 25", "g6b protein", "megakaryocyte and platelet inhibitory receptor g6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80739 ; - skos:exactMatch HGNC_symbol:MPIG6B ; + skos:exactMatch UMLS:C1422285, + HGNC:13937, + HGNC_symbol:MPIG6B ; biolink:category biolink:Gene . OMIM:606521 a owl:Class ; @@ -222619,7 +230533,6 @@ OMIM:606521 a owl:Class ; PMID:19798730 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:613710 ; - oboInOwl:hasDbXref UMLS:C1422628 ; oboInOwl:hasExactSynonym "SLC25A19", "mitochondrial deoxynucleotide carrier, formerly", "mitochondrial thiamine pyrophosphate carrier", @@ -222627,7 +230540,9 @@ OMIM:606521 a owl:Class ; "solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60386 ; - skos:exactMatch HGNC_symbol:SLC25A19 ; + skos:exactMatch UMLS:C1422628, + HGNC:14409, + HGNC_symbol:SLC25A19 ; biolink:category biolink:Gene . OMIM:606522 a owl:Class ; @@ -222639,12 +230554,13 @@ OMIM:606522 a owl:Class ; PMID:9467948 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:613703 ; - oboInOwl:hasDbXref UMLS:C1415034 ; oboInOwl:hasExactSynonym "GDF3", "growth/differentiation factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9573 ; - skos:exactMatch HGNC_symbol:GDF3 ; + skos:exactMatch UMLS:C1415034, + HGNC:4218, + HGNC_symbol:GDF3 ; biolink:category biolink:Gene . OMIM:606523 a owl:Class ; @@ -222655,7 +230571,6 @@ OMIM:606523 a owl:Class ; PMID:26026792 ; RO:0002525 CHR:9606chr12q14.2 ; RO:0003303 OMIM:188470 ; - oboInOwl:hasDbXref UMLS:C1424949 ; oboInOwl:hasExactSynonym "SRGAP1", "arhgap13", "kiaa1304", @@ -222664,7 +230579,9 @@ OMIM:606523 a owl:Class ; "slit-robo rho gtpase-activating protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57522 ; - skos:exactMatch HGNC_symbol:SRGAP1 ; + skos:exactMatch UMLS:C1424949, + HGNC:17382, + HGNC_symbol:SRGAP1 ; biolink:category biolink:Gene . OMIM:606524 a owl:Class ; @@ -222678,7 +230595,6 @@ OMIM:606524 a owl:Class ; PMID:22559944, PMID:26206078, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1426380 ; oboInOwl:hasExactSynonym "SRGAP2", "formin-binding protein 2", "kiaa0456", @@ -222688,7 +230604,9 @@ OMIM:606524 a owl:Class ; "srgap2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23380 ; - skos:exactMatch HGNC_symbol:SRGAP2 ; + skos:exactMatch UMLS:C1426380, + HGNC:19751, + HGNC_symbol:SRGAP2 ; biolink:category biolink:Gene . OMIM:606525 a owl:Class ; @@ -222698,8 +230616,6 @@ OMIM:606525 a owl:Class ; PMID:12447388, PMID:19363522, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1539848, - UMLS:C3149025 ; oboInOwl:hasExactSynonym "SRGAP3", "arhgap14", "kiaa0411", @@ -222710,7 +230626,10 @@ OMIM:606525 a owl:Class ; "wave-associated rac gtpase-activating protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9901 ; - skos:exactMatch HGNC_symbol:SRGAP3 ; + skos:exactMatch UMLS:C1539848, + UMLS:C3149025, + HGNC:19744, + HGNC_symbol:SRGAP3 ; biolink:category biolink:Gene . OMIM:606526 a owl:Class ; @@ -222724,35 +230643,36 @@ OMIM:606526 a owl:Class ; PMID:30142960 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:609227 ; - oboInOwl:hasDbXref UMLS:C1428884 ; oboInOwl:hasExactSynonym "MLPH", "melanophilin", "synaptotagmin-like protein lacking c2 domains a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79083 ; - skos:exactMatch HGNC_symbol:MLPH ; + skos:exactMatch UMLS:C1428884, + HGNC:29643, + HGNC_symbol:MLPH ; biolink:category biolink:Gene . OMIM:606527 a owl:Class ; rdfs:label "megarbane syndrome" ; IAO:0000142 PMID:11754048 ; - oboInOwl:hasDbXref UMLS:C1847871 ; - oboInOwl:hasExactSynonym "megarbane syndrome" . + oboInOwl:hasExactSynonym "megarbane syndrome" ; + skos:exactMatch UMLS:C1847871 . OMIM:606528 a owl:Class ; rdfs:label "homozygous 11p15-p14 deletion syndrome" ; IAO:0000142 PMID:10973248 ; RO:0002525 CHR:9606chr11p15-p14 ; - oboInOwl:hasDbXref UMLS:C1847866 ; oboInOwl:hasExactSynonym "homozygous 11p15-p14 deletion syndrome", "hyperinsulinism, infantile, with enteropathy and deafness" ; + skos:exactMatch UMLS:C1847866 ; biolink:category biolink:Disease . OMIM:606529 a owl:Class ; rdfs:label "craniosynostosis syndrome, autosomal recessive" ; IAO:0000142 PMID:11074486 ; - oboInOwl:hasDbXref UMLS:C1847865 ; - oboInOwl:hasExactSynonym "craniosynostosis syndrome, autosomal recessive" . + oboInOwl:hasExactSynonym "craniosynostosis syndrome, autosomal recessive" ; + skos:exactMatch UMLS:C1847865 . OMIM:606530 a owl:Class ; rdfs:label "CYP27A1" ; @@ -222772,14 +230692,15 @@ OMIM:606530 a owl:Class ; PMID:9790667 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:213700 ; - oboInOwl:hasDbXref UMLS:C1413864 ; oboInOwl:hasExactSynonym "CYP27A1", "cyp27", "cytochrome p450, subfamily xxviia, polypeptide 1", "sterol 27-hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1593 ; - skos:exactMatch HGNC_symbol:CYP27A1 ; + skos:exactMatch UMLS:C1413864, + HGNC:2605, + HGNC_symbol:CYP27A1 ; biolink:category biolink:Gene . OMIM:606531 a owl:Class ; @@ -222791,36 +230712,39 @@ OMIM:606531 a owl:Class ; PMID:8557195 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:600807 ; - oboInOwl:hasDbXref UMLS:C1425493 ; oboInOwl:hasExactSynonym "SCGB3A2", "secretoglobin, family 3a, member 2", "uteroglobin-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117156 ; - skos:exactMatch HGNC_symbol:SCGB3A2 ; + skos:exactMatch UMLS:C1425493, + HGNC:18391, + HGNC_symbol:SCGB3A2 ; biolink:category biolink:Gene . OMIM:606532 a owl:Class ; rdfs:label "HUNK" ; IAO:0000142 PMID:10662544, PMID:19717424 ; - oboInOwl:hasDbXref UMLS:C1421939 ; oboInOwl:hasExactSynonym "HUNK", "hormonally upregulated neu-associated kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30811 ; - skos:exactMatch HGNC_symbol:HUNK ; + skos:exactMatch UMLS:C1421939, + HGNC:13326, + HGNC_symbol:HUNK ; biolink:category biolink:Gene . OMIM:606533 a owl:Class ; rdfs:label "CLIC3" ; IAO:0000142 PMID:9880541 ; - oboInOwl:hasDbXref UMLS:C1413486 ; oboInOwl:hasExactSynonym "CLIC3", "chloride intracellular channel 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9022 ; - skos:exactMatch HGNC_symbol:CLIC3 ; + skos:exactMatch UMLS:C1413486, + HGNC:2064, + HGNC_symbol:CLIC3 ; biolink:category biolink:Gene . OMIM:606534 a owl:Class ; @@ -222828,25 +230752,27 @@ OMIM:606534 a owl:Class ; IAO:0000142 PMID:11160876, PMID:11243885, PMID:11266076 ; - oboInOwl:hasDbXref UMLS:C1424971 ; oboInOwl:hasExactSynonym "CYP3A43", "cytochrome p450, subfamily iiia, polypeptide 43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64816 ; - skos:exactMatch HGNC_symbol:CYP3A43 ; + skos:exactMatch UMLS:C1424971, + HGNC:17450, + HGNC_symbol:CYP3A43 ; biolink:category biolink:Gene . OMIM:606535 a owl:Class ; rdfs:label "MYCBP" ; IAO:0000142 PMID:11483602, PMID:9797456 ; - oboInOwl:hasDbXref UMLS:C1417525 ; oboInOwl:hasExactSynonym "MYCBP", "associate of myc", "myc-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26292 ; - skos:exactMatch HGNC_symbol:MYCBP ; + skos:exactMatch UMLS:C1417525, + HGNC:7554, + HGNC_symbol:MYCBP ; biolink:category biolink:Gene . OMIM:606536 a owl:Class ; @@ -222861,24 +230787,26 @@ OMIM:606536 a owl:Class ; PMID:19448624, PMID:19478202, PMID:20610659 ; - oboInOwl:hasDbXref UMLS:C1332766 ; oboInOwl:hasExactSynonym "CLIC4", "chloride intracellular channel 4", "chloride intracellular channel, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25932 ; - skos:exactMatch HGNC_symbol:CLIC4 ; + skos:exactMatch UMLS:C1332766, + HGNC:13518, + HGNC_symbol:CLIC4 ; biolink:category biolink:Gene . OMIM:606537 a owl:Class ; rdfs:label "MYO1B" ; IAO:0000142 PMID:8022818 ; - oboInOwl:hasDbXref UMLS:C1417559 ; oboInOwl:hasExactSynonym "MYO1B", "myosin 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4430 ; - skos:exactMatch HGNC_symbol:MYO1B ; + skos:exactMatch UMLS:C1417559, + HGNC:7596, + HGNC_symbol:MYO1B ; biolink:category biolink:Gene . OMIM:606538 a owl:Class ; @@ -222888,14 +230816,15 @@ OMIM:606538 a owl:Class ; PMID:18358812, PMID:30467170, PMID:9119401 ; - oboInOwl:hasDbXref UMLS:C1417560 ; oboInOwl:hasExactSynonym "MYO1C", "myosin 1c", "myosin 2, rat, homolog of", "nuclear myosin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4641 ; - skos:exactMatch HGNC_symbol:MYO1C ; + skos:exactMatch UMLS:C1417560, + HGNC:7597, + HGNC_symbol:MYO1C ; biolink:category biolink:Gene . OMIM:606539 a owl:Class ; @@ -222905,13 +230834,14 @@ OMIM:606539 a owl:Class ; PMID:30467170, PMID:8884266, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1417561 ; oboInOwl:hasExactSynonym "MYO1D", "kiaa0727", "myosin 1d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4642 ; - skos:exactMatch HGNC_symbol:MYO1D ; + skos:exactMatch UMLS:C1417561, + HGNC:7598, + HGNC_symbol:MYO1D ; biolink:category biolink:Gene . OMIM:606540 a owl:Class ; @@ -222926,13 +230856,14 @@ OMIM:606540 a owl:Class ; PMID:8884266 ; RO:0002525 CHR:9606chr18q21.1 ; RO:0003303 OMIM:251850 ; - oboInOwl:hasDbXref UMLS:C1417566 ; oboInOwl:hasExactSynonym "MYO5B", "kiaa1119", "myosin 5b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4645 ; - skos:exactMatch HGNC_symbol:MYO5B ; + skos:exactMatch UMLS:C1417566, + HGNC:7603, + HGNC_symbol:MYO5B ; biolink:category biolink:Gene . OMIM:606541 a owl:Class ; @@ -222940,12 +230871,13 @@ OMIM:606541 a owl:Class ; IAO:0000142 PMID:11401444, PMID:8022818, PMID:8884266 ; - oboInOwl:hasDbXref UMLS:C1417570 ; oboInOwl:hasExactSynonym "MYO7B", "myosin 7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4648 ; - skos:exactMatch HGNC_symbol:MYO7B ; + skos:exactMatch UMLS:C1417570, + HGNC:7607, + HGNC_symbol:MYO7B ; biolink:category biolink:Gene . OMIM:606542 a owl:Class ; @@ -222955,14 +230887,15 @@ OMIM:606542 a owl:Class ; PMID:16873063, PMID:20720541, PMID:27810920 ; - oboInOwl:hasDbXref UMLS:C1422387 ; oboInOwl:hasExactSynonym "HDAC7A", "dkfzp586j0917", "hdac7", "histone deacetylase 7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51564 ; - skos:exactMatch HGNC_symbol:HDAC7 ; + skos:exactMatch UMLS:C1422387, + HGNC:14067, + HGNC_symbol:HDAC7 ; biolink:category biolink:Gene . OMIM:606543 a owl:Class ; @@ -222972,7 +230905,6 @@ OMIM:606543 a owl:Class ; PMID:11535832, PMID:15711539, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1422386 ; oboInOwl:hasExactSynonym "HDAC9", "histone deacetylase 7b", "histone deacetylase 9", @@ -222981,7 +230913,9 @@ OMIM:606543 a owl:Class ; "mef2-interacting transcription repressor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9734 ; - skos:exactMatch HGNC_symbol:HDAC9 ; + skos:exactMatch UMLS:C1422386, + HGNC:14065, + HGNC_symbol:HDAC9 ; biolink:category biolink:Gene . OMIM:606544 a owl:Class ; @@ -222993,14 +230927,15 @@ OMIM:606544 a owl:Class ; PMID:29075935 ; RO:0002525 CHR:9606chr5q13.3 ; RO:0003303 OMIM:618397 ; - oboInOwl:hasDbXref UMLS:C1539561 ; oboInOwl:hasExactSynonym "GFM2", "elongation factor g2", "mitochondrial elongation factor g2", "ribosome-recycling factor 2, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84340 ; - skos:exactMatch HGNC_symbol:GFM2 ; + skos:exactMatch UMLS:C1539561, + HGNC:29682, + HGNC_symbol:GFM2 ; biolink:category biolink:Gene . OMIM:606546 a owl:Class ; @@ -223009,60 +230944,65 @@ OMIM:606546 a owl:Class ; PMID:11448939, PMID:11935319, PMID:16928428 ; - oboInOwl:hasDbXref UMLS:C1415830 ; oboInOwl:hasExactSynonym "HYMAI", "hydatidiform mole-associated and imprinted transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57061 ; - skos:exactMatch HGNC_symbol:HYMAI ; + skos:exactMatch UMLS:C1415830, + HGNC:5326, + HGNC_symbol:HYMAI ; biolink:category biolink:Gene . OMIM:606547 a owl:Class ; rdfs:label "MS4A4A" ; IAO:0000142 PMID:11245982, PMID:11401424 ; - oboInOwl:hasDbXref UMLS:C1421956 ; oboInOwl:hasExactSynonym "MS4A4A", "membrane-spanning 4-domains, subfamily a, member 4a", "ms4a4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51338 ; - skos:exactMatch HGNC_symbol:MS4A4A ; + skos:exactMatch UMLS:C1421956, + HGNC:13371, + HGNC_symbol:MS4A4A ; biolink:category biolink:Gene . OMIM:606548 a owl:Class ; rdfs:label "MS4A6A" ; IAO:0000142 PMID:11245982, PMID:11401424 ; - oboInOwl:hasDbXref UMLS:C1421960 ; oboInOwl:hasExactSynonym "MS4A6A", "membrane-spanning 4-domains, subfamily a, member 6a", "ms4a6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64231 ; - skos:exactMatch HGNC_symbol:MS4A6A ; + skos:exactMatch UMLS:C1421960, + HGNC:13375, + HGNC_symbol:MS4A6A ; biolink:category biolink:Gene . OMIM:606549 a owl:Class ; rdfs:label "MS4A8B" ; IAO:0000142 PMID:11401424 ; - oboInOwl:hasDbXref UMLS:C1421965 ; oboInOwl:hasExactSynonym "MS4A8B", "membrane-spanning 4-domains, subfamily a, member 8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83661 ; - skos:exactMatch HGNC_symbol:MS4A8 ; + skos:exactMatch UMLS:C1421965, + HGNC:13380, + HGNC_symbol:MS4A8 ; biolink:category biolink:Gene . OMIM:606550 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:11401424 ; - oboInOwl:hasDbXref UMLS:C1421955 ; oboInOwl:hasExactSynonym "membrane-spanning 4-domains, subfamily a, member 12", "ms4a12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54860 ; - skos:exactMatch HGNC_symbol:MS4A12 ; + skos:exactMatch UMLS:C1421955, + HGNC:13370, + HGNC_symbol:MS4A12 ; biolink:category biolink:Gene . OMIM:606551 a owl:Class ; @@ -223072,14 +231012,15 @@ OMIM:606551 a owl:Class ; PMID:12377406 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:133239 ; - oboInOwl:hasDbXref UMLS:C1422239 ; oboInOwl:hasExactSynonym "LZTS1", "f37", "fez1, formerly", "leucine zipper, putative tumor suppressor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11178 ; - skos:exactMatch HGNC_symbol:LZTS1 ; + skos:exactMatch UMLS:C1422239, + HGNC:13861, + HGNC_symbol:LZTS1 ; biolink:category biolink:Gene . OMIM:606552 a owl:Class ; @@ -223089,12 +231030,12 @@ OMIM:606552 a owl:Class ; PMID:16009908, PMID:8797163, PMID:8929156 ; - oboInOwl:hasDbXref UMLS:C1847843 ; oboInOwl:hasExactSynonym "EA4", "ataxia, periodic vestibulocerebellar", "episodic ataxia, iia 4", "periodic vestibulocerebellar ataxia" ; rdfs:subClassOf OMIMPS:160120 ; + skos:exactMatch UMLS:C1847843 ; biolink:category biolink:Disease . OMIM:606553 a owl:Class ; @@ -223108,7 +231049,6 @@ OMIM:606553 a owl:Class ; PMID:9671706, PMID:9748260, PMID:9831664 ; - oboInOwl:hasDbXref UMLS:C1420237 ; oboInOwl:hasExactSynonym "SLC9A3R2", "nhe3 kinase a regulatory protein", "nhe3 regulatory factor 2", @@ -223118,34 +231058,38 @@ OMIM:606553 a owl:Class ; "sry-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9351 ; - skos:exactMatch HGNC_symbol:SLC9A3R2 ; + skos:exactMatch UMLS:C1420237, + HGNC:11076, + HGNC_symbol:SLC9A3R2 ; biolink:category biolink:Gene . OMIM:606555 a owl:Class ; rdfs:label "TRIM9" ; IAO:0000142 PMID:11331580, PMID:11524423 ; - oboInOwl:hasDbXref UMLS:C1424156 ; oboInOwl:hasExactSynonym "TRIM9", "kiaa0282", "snap25-interacting ring finger, rat, homolog of", "tripartite motif-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114088 ; - skos:exactMatch HGNC_symbol:TRIM9 ; + skos:exactMatch UMLS:C1424156, + HGNC:16288, + HGNC_symbol:TRIM9 ; biolink:category biolink:Gene . OMIM:606556 a owl:Class ; rdfs:label "TRIM14" ; IAO:0000142 PMID:11331580, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1424151 ; oboInOwl:hasExactSynonym "TRIM14", "kiaa0129", "tripartite motif-containing protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9830 ; - skos:exactMatch HGNC_symbol:TRIM14 ; + skos:exactMatch UMLS:C1424151, + HGNC:16283, + HGNC_symbol:TRIM14 ; biolink:category biolink:Gene . OMIM:606557 a owl:Class ; @@ -223175,8 +231119,6 @@ OMIM:606557 a owl:Class ; PMID:33649594 ; RO:0002525 CHR:9606chr2p16.1 ; RO:0003303 OMIM:617101 ; - oboInOwl:hasDbXref UMLS:C1421886, - UMLS:C4310833 ; oboInOwl:hasExactSynonym "BCL11A", "b-cell cll/lymphoma 11a", "baf chromatin remodeling complex subunit bcl11a", @@ -223186,7 +231128,10 @@ OMIM:606557 a owl:Class ; "kiaa1809" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53335 ; - skos:exactMatch HGNC_symbol:BCL11A ; + skos:exactMatch UMLS:C1421886, + UMLS:C4310833, + HGNC:13221, + HGNC_symbol:BCL11A ; biolink:category biolink:Gene . OMIM:606558 a owl:Class ; @@ -223206,7 +231151,6 @@ OMIM:606558 a owl:Class ; PMID:29985992 ; RO:0002525 CHR:9606chr14q32.2 ; RO:0003303 OMIM:618092 ; - oboInOwl:hasDbXref UMLS:C1421887 ; oboInOwl:hasExactSynonym "BCL11B", "b-cell cll/lymphoma 11b", "baf chromatin remodeling complex subunit bcl11b", @@ -223214,7 +231158,9 @@ OMIM:606558 a owl:Class ; "radiation-induced tumor suppressor gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64919 ; - skos:exactMatch HGNC_symbol:BCL11B ; + skos:exactMatch UMLS:C1421887, + HGNC:13222, + HGNC_symbol:BCL11B ; biolink:category biolink:Gene . OMIM:606559 a owl:Class ; @@ -223223,13 +231169,14 @@ OMIM:606559 a owl:Class ; PMID:24863734, PMID:7797467, PMID:8661041 ; - oboInOwl:hasDbXref UMLS:C1424231 ; oboInOwl:hasExactSynonym "TRIM22", "stimulated trans-acting factor, 50-kd", "tripartite motif-containing protein 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10346 ; - skos:exactMatch HGNC_symbol:TRIM22 ; + skos:exactMatch UMLS:C1424231, + HGNC:16379, + HGNC_symbol:TRIM22 ; biolink:category biolink:Gene . OMIM:606560 a owl:Class ; @@ -223240,7 +231187,6 @@ OMIM:606560 a owl:Class ; PMID:11259252, PMID:15122269, PMID:8167223 ; - oboInOwl:hasDbXref UMLS:C1422733 ; oboInOwl:hasExactSynonym "SPAG11B", "bin1b, rat, homolog of", "ep2", @@ -223249,7 +231195,9 @@ OMIM:606560 a owl:Class ; "sperm-associated antigen 11b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10407 ; - skos:exactMatch HGNC_symbol:SPAG11B ; + skos:exactMatch UMLS:C1422733, + HGNC:14534, + HGNC_symbol:SPAG11B ; biolink:category biolink:Gene . OMIM:606561 a owl:Class ; @@ -223260,63 +231208,68 @@ OMIM:606561 a owl:Class ; PMID:12809675, PMID:15058382, PMID:20498635 ; - oboInOwl:hasDbXref UMLS:C1425766 ; oboInOwl:hasExactSynonym "SLC36A1", "lysosomal amino acid transporter 1", "proton/amino acid transporter 1", "solute carrier family 36 (proton/amino acid symporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:206358 ; - skos:exactMatch HGNC_symbol:SLC36A1 ; + skos:exactMatch UMLS:C1425766, + HGNC:18761, + HGNC_symbol:SLC36A1 ; biolink:category biolink:Gene . OMIM:606562 a owl:Class ; rdfs:label "TM6SF1" ; IAO:0000142 PMID:11124529 ; - oboInOwl:hasDbXref UMLS:C1420768 ; oboInOwl:hasExactSynonym "TM6SF1", "transmembrane 6 superfamily, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53346 ; - skos:exactMatch HGNC_symbol:TM6SF1 ; + skos:exactMatch UMLS:C1420768, + HGNC:11860, + HGNC_symbol:TM6SF1 ; biolink:category biolink:Gene . OMIM:606563 a owl:Class ; rdfs:label "TM6SF2" ; IAO:0000142 PMID:11124529, PMID:11572484 ; - oboInOwl:hasDbXref UMLS:C1420769 ; oboInOwl:hasExactSynonym "TM6SF2", "kiaa1926", "transmembrane 6 superfamily, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53345 ; - skos:exactMatch HGNC_symbol:TM6SF2 ; + skos:exactMatch UMLS:C1420769, + HGNC:11861, + HGNC_symbol:TM6SF2 ; biolink:category biolink:Gene . OMIM:606564 a owl:Class ; rdfs:label "PMEPA1" ; IAO:0000142 PMID:10873380, PMID:20889500 ; - oboInOwl:hasDbXref UMLS:C1422412 ; oboInOwl:hasExactSynonym "PMEPA1", "prostate transmembrane protein, androgen-induced", "transmembrane prostate androgen-induced RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56937 ; - skos:exactMatch HGNC_symbol:PMEPA1 ; + skos:exactMatch UMLS:C1422412, + HGNC:14107, + HGNC_symbol:PMEPA1 ; biolink:category biolink:Gene . OMIM:606565 a owl:Class ; rdfs:label "TMPRSS4" ; IAO:0000142 PMID:10825129, PMID:9172000 ; - oboInOwl:hasDbXref UMLS:C1420785 ; oboInOwl:hasExactSynonym "TMPRSS4", "transmembrane protease, serine 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56649 ; - skos:exactMatch HGNC_symbol:TMPRSS4 ; + skos:exactMatch UMLS:C1420785, + HGNC:11878, + HGNC_symbol:TMPRSS4 ; biolink:category biolink:Gene . OMIM:606566 a owl:Class ; @@ -223324,26 +231277,28 @@ OMIM:606566 a owl:Class ; IAO:0000142 PMID:11733062 ; RO:0002525 CHR:9606chr20q11.21 ; RO:0003303 OMIM:192600 ; - oboInOwl:hasDbXref UMLS:C1424116 ; oboInOwl:hasExactSynonym "MYLK2", "mlck, skeletal/cardiac", "myosin light chain kinase 2", "myosin light polypeptide kinase, skeletal/cardiac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85366 ; - skos:exactMatch HGNC_symbol:MYLK2 ; + skos:exactMatch UMLS:C1424116, + HGNC:16243, + HGNC_symbol:MYLK2 ; biolink:category biolink:Gene . OMIM:606567 a owl:Class ; rdfs:label "TM4SF4" ; IAO:0000142 PMID:7665614 ; - oboInOwl:hasDbXref UMLS:C1420764 ; oboInOwl:hasExactSynonym "TM4SF4", "intestine and liver tetraspan membrane protein", "transmembrane 4 superfamily, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7104 ; - skos:exactMatch HGNC_symbol:TM4SF4 ; + skos:exactMatch UMLS:C1420764, + HGNC:11856, + HGNC_symbol:TM4SF4 ; biolink:category biolink:Gene . OMIM:606568 a owl:Class ; @@ -223355,27 +231310,29 @@ OMIM:606568 a owl:Class ; PMID:23692385 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:615994 ; - oboInOwl:hasDbXref UMLS:C1416946 ; oboInOwl:hasExactSynonym "LZTFL1", "bbs17 gene", "leucine zipper transcription factor-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54585 ; - skos:exactMatch HGNC_symbol:LZTFL1 ; + skos:exactMatch UMLS:C1416946, + HGNC:6741, + HGNC_symbol:LZTFL1 ; biolink:category biolink:Gene . OMIM:606569 a owl:Class ; rdfs:label "SACM1L" ; IAO:0000142 PMID:11214970, PMID:11352561 ; - oboInOwl:hasDbXref UMLS:C1424716 ; oboInOwl:hasExactSynonym "SACM1L", "kiaa0851", "suppressor of actin 1", "suppressor of actin mutations 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22908 ; - skos:exactMatch HGNC_symbol:SACM1L ; + skos:exactMatch UMLS:C1424716, + HGNC:17059, + HGNC_symbol:SACM1L ; biolink:category biolink:Gene . OMIM:606570 a owl:Class ; @@ -223386,13 +231343,14 @@ OMIM:606570 a owl:Class ; PMID:9096311 ; RO:0002525 CHR:9606chr7p14.1 ; RO:0003303 OMIM:265900 ; - oboInOwl:hasDbXref UMLS:C1335814 ; oboInOwl:hasExactSynonym "SFRP4", "frizzled-related protein, human endometrium", "secreted frizzled-related protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6424 ; - skos:exactMatch HGNC_symbol:SFRP4 ; + skos:exactMatch UMLS:C1335814, + HGNC:10778, + HGNC_symbol:SFRP4 ; biolink:category biolink:Gene . OMIM:606571 a owl:Class ; @@ -223400,14 +231358,15 @@ OMIM:606571 a owl:Class ; IAO:0000142 PMID:24627487, PMID:9129712, PMID:9479497 ; - oboInOwl:hasDbXref UMLS:C1412918 ; oboInOwl:hasExactSynonym "LDLRAD4", "chromosome 18 open reading frame 1", "ldlr class a domain-containing protein 4", "low density lipoprotein receptor class a domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:753 ; - skos:exactMatch HGNC_symbol:LDLRAD4 ; + skos:exactMatch UMLS:C1412918, + HGNC:1224, + HGNC_symbol:LDLRAD4 ; biolink:category biolink:Gene . OMIM:606572 a owl:Class ; @@ -223415,12 +231374,13 @@ OMIM:606572 a owl:Class ; IAO:0000142 PMID:11483596, PMID:16339585, PMID:22291013 ; - oboInOwl:hasDbXref UMLS:C1423017 ; oboInOwl:hasExactSynonym "NOX5", "nadph oxidase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79400 ; - skos:exactMatch HGNC_symbol:NOX5 ; + skos:exactMatch UMLS:C1423017, + HGNC:14874, + HGNC_symbol:NOX5 ; biolink:category biolink:Gene . OMIM:606573 a owl:Class ; @@ -223430,7 +231390,6 @@ OMIM:606573 a owl:Class ; PMID:7510261, PMID:7696183, PMID:8099900 ; - oboInOwl:hasDbXref UMLS:C1333577 ; oboInOwl:hasExactSynonym "FRK", "fyn-related kinase", "fyn-related src family tyrosine kinase", @@ -223438,7 +231397,9 @@ OMIM:606573 a owl:Class ; "rak" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2444 ; - skos:exactMatch HGNC_symbol:FRK ; + skos:exactMatch UMLS:C1333577, + HGNC:3955, + HGNC_symbol:FRK ; biolink:category biolink:Gene . OMIM:606574 a owl:Class ; @@ -223447,12 +231408,12 @@ OMIM:606574 a owl:Class ; PMID:14722913, PMID:14961451, PMID:16162179 ; - oboInOwl:hasDbXref UMLS:C1847836, - ORPHA:79435 ; oboInOwl:hasExactSynonym "OCA4", "albinism, oculocutaneous, iia 4", "oculocutaneous albinism, iia 4" ; rdfs:subClassOf OMIMPS:203100 ; + skos:exactMatch UMLS:C1847836, + ORPHA:79435 ; biolink:category biolink:Disease . OMIM:606575 a owl:Class ; @@ -223461,13 +231422,14 @@ OMIM:606575 a owl:Class ; PMID:16520334, PMID:17341488, PMID:9507394 ; - oboInOwl:hasDbXref UMLS:C1422145 ; oboInOwl:hasExactSynonym "MPP4", "discs large, drosophila, homolog of, 6", "membrane protein, palmitoylated 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58538 ; - skos:exactMatch HGNC_symbol:MPP4 ; + skos:exactMatch UMLS:C1422145, + HGNC:13680, + HGNC_symbol:MPP4 ; biolink:category biolink:Gene . OMIM:606576 a owl:Class ; @@ -223475,36 +231437,39 @@ OMIM:606576 a owl:Class ; IAO:0000142 PMID:11438666, PMID:17884155, PMID:21884934 ; - oboInOwl:hasDbXref UMLS:C1336566 ; oboInOwl:hasExactSynonym "TAF3", "taf3 RNA polymerase ii, tata box-binding protein-associated factor, 140-kd", "tbp-associated factor, RNA polymerase ii, 140-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83860 ; - skos:exactMatch HGNC_symbol:TAF3 ; + skos:exactMatch UMLS:C1336566, + HGNC:17303, + HGNC_symbol:TAF3 ; biolink:category biolink:Gene . OMIM:606577 a owl:Class ; rdfs:label "SLA2" ; IAO:0000142 PMID:11696592 ; - oboInOwl:hasDbXref UMLS:C1424907 ; oboInOwl:hasExactSynonym "SLA2", "slap2", "src-like adaptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84174 ; - skos:exactMatch HGNC_symbol:SLA2 ; + skos:exactMatch UMLS:C1424907, + HGNC:17329, + HGNC_symbol:SLA2 ; biolink:category biolink:Gene . OMIM:606578 a owl:Class ; rdfs:label "AQP10" ; IAO:0000142 PMID:11573934 ; - oboInOwl:hasDbXref UMLS:C1423922 ; oboInOwl:hasExactSynonym "AQP10", "aquaporin 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89872 ; - skos:exactMatch HGNC_symbol:AQP10 ; + skos:exactMatch UMLS:C1423922, + HGNC:16029, + HGNC_symbol:AQP10 ; biolink:category biolink:Gene . OMIM:606580 a owl:Class ; @@ -223520,15 +231485,16 @@ OMIM:606580 a owl:Class ; PMID:26190011 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:165300 ; - oboInOwl:hasDbXref UMLS:C0574084, - UMLS:C1417955, - UMLS:C1833809 ; oboInOwl:hasExactSynonym "OPA3", "opa3 gene", "outer mitochondrial membrane lipid metabolism regulator opa3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80207 ; - skos:exactMatch HGNC_symbol:OPA3 ; + skos:exactMatch UMLS:C0574084, + UMLS:C1417955, + UMLS:C1833809, + HGNC:8142, + HGNC_symbol:OPA3 ; biolink:category biolink:Gene . OMIM:606582 a owl:Class ; @@ -223549,14 +231515,15 @@ OMIM:606582 a owl:Class ; PMID:9109488 ; RO:0002525 CHR:9606chr6q27 ; RO:0003303 OMIM:618709 ; - oboInOwl:hasDbXref UMLS:C1414070 ; oboInOwl:hasExactSynonym "DLL1", "delta, drosophila, homolog of, 1", "delta-like 1", "delta-like canonical notch ligand 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28514 ; - skos:exactMatch HGNC_symbol:DLL1 ; + skos:exactMatch UMLS:C1414070, + HGNC:2908, + HGNC_symbol:DLL1 ; biolink:category biolink:Gene . OMIM:606583 a owl:Class ; @@ -223567,13 +231534,14 @@ OMIM:606583 a owl:Class ; PMID:11518528, PMID:12417342, PMID:15105503 ; - oboInOwl:hasDbXref UMLS:C1418882 ; oboInOwl:hasExactSynonym "PRDX5", "antioxidant enzyme b166", "peroxiredoxin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25824 ; - skos:exactMatch HGNC_symbol:PRDX5 ; + skos:exactMatch UMLS:C1418882, + HGNC:9355, + HGNC_symbol:PRDX5 ; biolink:category biolink:Gene . OMIM:606584 a owl:Class ; @@ -223589,17 +231557,18 @@ OMIM:606584 a owl:Class ; PMID:9694860 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:618890 ; - oboInOwl:hasDbXref UMLS:C1422626, - UMLS:C5394578, - UMLS:C5394579, - UMLS:C5394580 ; oboInOwl:hasExactSynonym "PTPN23", "his-domain protein-tyrosine phosphatase", "kiaa1471", "protein-tyrosine phosphatase, nonreceptor-type, 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25930 ; - skos:exactMatch HGNC_symbol:PTPN23 ; + skos:exactMatch UMLS:C1422626, + UMLS:C5394578, + UMLS:C5394579, + UMLS:C5394580, + HGNC:14406, + HGNC_symbol:PTPN23 ; biolink:category biolink:Gene . OMIM:606585 a owl:Class ; @@ -223620,38 +231589,41 @@ OMIM:606585 a owl:Class ; PMID:9372788 ; RO:0002525 CHR:9606chr4q13.3 ; RO:0003303 OMIM:204650 ; - oboInOwl:hasDbXref UMLS:C1414397 ; oboInOwl:hasExactSynonym "ENAM", "enamelin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10117 ; - skos:exactMatch HGNC_symbol:ENAM ; + skos:exactMatch UMLS:C1414397, + HGNC:3344, + HGNC_symbol:ENAM ; biolink:category biolink:Gene . OMIM:606586 a owl:Class ; rdfs:label "RAI14" ; IAO:0000142 PMID:10718198, PMID:11042181 ; - oboInOwl:hasDbXref UMLS:C1423016 ; oboInOwl:hasExactSynonym "RAI14", "kiaa1334", "novel retinal pigment epithelial cell gene", "retinoic acid-induced 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26064 ; - skos:exactMatch HGNC_symbol:RAI14 ; + skos:exactMatch UMLS:C1423016, + HGNC:14873, + HGNC_symbol:RAI14 ; biolink:category biolink:Gene . OMIM:606587 a owl:Class ; rdfs:label "PTPN18" ; IAO:0000142 PMID:8950995 ; - oboInOwl:hasDbXref UMLS:C1419099 ; oboInOwl:hasExactSynonym "PTPN18", "brain-derived phosphatase", "protein-tyrosine phosphatase, nonreceptor-type, 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26469 ; - skos:exactMatch HGNC_symbol:PTPN18 ; + skos:exactMatch UMLS:C1419099, + HGNC:9649, + HGNC_symbol:PTPN18 ; biolink:category biolink:Gene . OMIM:606588 a owl:Class ; @@ -223666,34 +231638,35 @@ OMIM:606588 a owl:Class ; PMID:19246518, PMID:19515852, PMID:21706000 ; - oboInOwl:hasDbXref UMLS:C1414124 ; oboInOwl:hasExactSynonym "DNA cytosine-5-methyltransferase 3-like protein", "DNA methyltransferase 3-like protein", "DNMT3L" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29947 ; - skos:exactMatch HGNC_symbol:DNMT3L ; + skos:exactMatch UMLS:C1414124, + HGNC:2980, + HGNC_symbol:DNMT3L ; biolink:category biolink:Gene . OMIM:606589 a owl:Class ; rdfs:label "SNX13" ; IAO:0000142 PMID:11729322, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1427490 ; oboInOwl:hasExactSynonym "SNX13", "kiaa0713", "rgs domain- and phox domain-containing protein", "sorting nexin 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23161 ; - skos:exactMatch HGNC_symbol:SNX13 ; + skos:exactMatch UMLS:C1427490, + HGNC:21335, + HGNC_symbol:SNX13 ; biolink:category biolink:Gene . OMIM:606590 a owl:Class ; rdfs:label "NPLOC4" ; IAO:0000142 PMID:10819331, PMID:11574150 ; - oboInOwl:hasDbXref UMLS:C1826464 ; oboInOwl:hasExactSynonym "NPLOC4", "kiaa1499", "npl4 homolog, ubiquitin recognition factor", @@ -223701,7 +231674,9 @@ OMIM:606590 a owl:Class ; "nuclear protein localization 4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55666 ; - skos:exactMatch HGNC_symbol:NPLOC4 ; + skos:exactMatch UMLS:C1826464, + HGNC:18261, + HGNC_symbol:NPLOC4 ; biolink:category biolink:Gene . OMIM:606591 a owl:Class ; @@ -223715,26 +231690,28 @@ OMIM:606591 a owl:Class ; PMID:26273056, PMID:26633632, PMID:27178469 ; - oboInOwl:hasDbXref UMLS:C1428895 ; oboInOwl:hasExactSynonym "MUS81", "mus81 structure-specific endonuclease subunit", "mus81, s. cerevisiae, homolog of", "slx3, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80198 ; - skos:exactMatch HGNC_symbol:MUS81 ; + skos:exactMatch UMLS:C1428895, + HGNC:29814, + HGNC_symbol:MUS81 ; biolink:category biolink:Gene . OMIM:606592 a owl:Class ; rdfs:label "VNN3" ; IAO:0000142 PMID:10501839, PMID:11491533 ; - oboInOwl:hasDbXref UMLS:C1424274 ; oboInOwl:hasExactSynonym "VNN3", "vanin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55350 ; - skos:exactMatch HGNC_symbol:VNN3P ; + skos:exactMatch UMLS:C1424274, + HGNC:16431, + HGNC_symbol:VNN3P ; biolink:category biolink:Gene . OMIM:606593 a owl:Class ; @@ -223744,8 +231721,8 @@ OMIM:606593 a owl:Class ; PMID:16088910, PMID:16357942, PMID:20133615 ; - oboInOwl:hasDbXref UMLS:C1847827 ; oboInOwl:hasExactSynonym "lig4 syndrome" ; + skos:exactMatch UMLS:C1847827 ; biolink:category biolink:Disease . OMIM:606594 a owl:Class ; @@ -223757,7 +231734,6 @@ OMIM:606594 a owl:Class ; PMID:12540855, PMID:15525938, PMID:23324626 ; - oboInOwl:hasDbXref UMLS:C1822691 ; oboInOwl:hasExactSynonym "SETD7", "h3-k4-hmtase", "histone h3-lysine 4-specific methyltransferase", @@ -223767,7 +231743,9 @@ OMIM:606594 a owl:Class ; "set9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80854 ; - skos:exactMatch HGNC_symbol:SETD7 ; + skos:exactMatch UMLS:C1822691, + HGNC:30412, + HGNC_symbol:SETD7 ; biolink:category biolink:Gene . OMIM:606595 a owl:Class ; @@ -223777,12 +231755,12 @@ OMIM:606595 a owl:Class ; PMID:16087758, PMID:17881652, PMID:21785432 ; - oboInOwl:hasDbXref UMLS:C1847823 ; oboInOwl:hasExactSynonym "CMT2F", "charcot-marie-tooth disease, axonal, iia 2f", "charcot-marie-tooth disease, neuronal, iia 2f", "charcot-marie-tooth neuropathy, iia 2f" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1847823 ; biolink:category biolink:Disease . OMIM:606596 a owl:Class ; @@ -223814,16 +231792,17 @@ OMIM:606596 a owl:Class ; PMID:23591631 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:607155 ; - oboInOwl:hasDbXref UMLS:C1425226, - UMLS:C1846672, - UMLS:C3150413, - UMLS:C4016970, - UMLS:C4016971 ; oboInOwl:hasExactSynonym "FKRP", "fukutin-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79147 ; - skos:exactMatch HGNC_symbol:FKRP ; + skos:exactMatch UMLS:C1425226, + UMLS:C1846672, + UMLS:C3150413, + UMLS:C4016970, + UMLS:C4016971, + HGNC:17997, + HGNC_symbol:FKRP ; biolink:category biolink:Gene . OMIM:606597 a owl:Class ; @@ -223894,15 +231873,16 @@ OMIM:606597 a owl:Class ; PMID:9500554 ; RO:0002525 CHR:9606chr2q36.1 ; RO:0003303 OMIM:148820 ; - oboInOwl:hasDbXref UMLS:C1335192, - UMLS:C1847791 ; oboInOwl:hasExactSynonym "PAX3", "paired box gene 3", "paired domain gene hup2", "pax3/fkhr fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5077 ; - skos:exactMatch HGNC_symbol:PAX3 ; + skos:exactMatch UMLS:C1335192, + UMLS:C1847791, + HGNC:8617, + HGNC_symbol:PAX3 ; biolink:category biolink:Gene . OMIM:606598 a owl:Class ; @@ -223930,12 +231910,13 @@ OMIM:606598 a owl:Class ; PMID:21753178 ; RO:0002525 CHR:9606chr8q21.11 ; RO:0003303 OMIM:214400 ; - oboInOwl:hasDbXref UMLS:C1423872 ; oboInOwl:hasExactSynonym "GDAP1", "ganglioside-induced differentiation-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54332 ; - skos:exactMatch HGNC_symbol:GDAP1 ; + skos:exactMatch UMLS:C1423872, + HGNC:15968, + HGNC_symbol:GDAP1 ; biolink:category biolink:Gene . OMIM:606599 a owl:Class ; @@ -223953,14 +231934,15 @@ OMIM:606599 a owl:Class ; PMID:23880345, PMID:8086474, PMID:9537422 ; - oboInOwl:hasDbXref UMLS:C1424661 ; oboInOwl:hasExactSynonym "TXNIP", "thioredoxin-binding protein 2", "thioredoxin-interacting protein", "vitamin d3-upregulated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10628 ; - skos:exactMatch HGNC_symbol:TXNIP ; + skos:exactMatch UMLS:C1424661, + HGNC:16952, + HGNC_symbol:TXNIP ; biolink:category biolink:Gene . OMIM:606600 a owl:Class ; @@ -223968,37 +231950,40 @@ OMIM:606600 a owl:Class ; IAO:0000142 PMID:11753386, PMID:7684828, PMID:9501318 ; - oboInOwl:hasDbXref UMLS:C1419281 ; oboInOwl:hasExactSynonym "RASGRF1", "guanine nucleotide-releasing factor, 55-kd", "ras protein-specific guanine nucleotide-releasing factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5923 ; - skos:exactMatch HGNC_symbol:RASGRF1 ; + skos:exactMatch UMLS:C1419281, + HGNC:9875, + HGNC_symbol:RASGRF1 ; biolink:category biolink:Gene . OMIM:606601 a owl:Class ; rdfs:label "ERVE1" ; IAO:0000142 PMID:11401426, PMID:11721880 ; - oboInOwl:hasDbXref UMLS:C1422783 ; oboInOwl:hasExactSynonym "ERVE1", "endogenous retroviral sequence e, 1", "herve1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85314 ; - skos:exactMatch HGNC_symbol:ERVE-1 ; + skos:exactMatch UMLS:C1422783, + HGNC:14602, + HGNC_symbol:ERVE-1 ; biolink:category biolink:Gene . OMIM:606602 a owl:Class ; rdfs:label "BAALC" ; IAO:0000142 PMID:11707601 ; - oboInOwl:hasDbXref UMLS:C1422571 ; oboInOwl:hasExactSynonym "BAALC", "brain and acute leukemia gene, cytoplasmic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79870 ; - skos:exactMatch HGNC_symbol:BAALC ; + skos:exactMatch UMLS:C1422571, + HGNC:14333, + HGNC_symbol:BAALC ; biolink:category biolink:Gene . OMIM:606603 a owl:Class ; @@ -224012,12 +231997,13 @@ OMIM:606603 a owl:Class ; PMID:9245989 ; RO:0002525 CHR:9606chr1q42.3-q43 ; RO:0003303 OMIM:614941 ; - oboInOwl:hasDbXref UMLS:C1422578 ; oboInOwl:hasExactSynonym "EDARADD", "edar-associated death domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128178 ; - skos:exactMatch HGNC_symbol:EDARADD ; + skos:exactMatch UMLS:C1422578, + HGNC:14341, + HGNC_symbol:EDARADD ; biolink:category biolink:Gene . OMIM:606604 a owl:Class ; @@ -224027,7 +232013,6 @@ OMIM:606604 a owl:Class ; PMID:15109499, PMID:15520277, PMID:17965779 ; - oboInOwl:hasDbXref UMLS:C1424509 ; oboInOwl:hasExactSynonym "FBXO32", "atrophy gene 1", "f-box only protein 32", @@ -224035,7 +232020,9 @@ OMIM:606604 a owl:Class ; "muscle atrophy f-box" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114907 ; - skos:exactMatch HGNC_symbol:FBXO32 ; + skos:exactMatch UMLS:C1424509, + HGNC:16731, + HGNC_symbol:FBXO32 ; biolink:category biolink:Gene . OMIM:606605 a owl:Class ; @@ -224045,12 +232032,13 @@ OMIM:606605 a owl:Class ; PMID:16407120, PMID:23144622, PMID:27626380 ; - oboInOwl:hasDbXref UMLS:C2243119 ; oboInOwl:hasExactSynonym "ATRIP", "atr-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84126 ; - skos:exactMatch HGNC_symbol:ATRIP ; + skos:exactMatch UMLS:C2243119, + HGNC:33499, + HGNC_symbol:ATRIP ; biolink:category biolink:Gene . OMIM:606606 a owl:Class ; @@ -224063,14 +232051,15 @@ OMIM:606607 a owl:Class ; PMID:16678104, PMID:23033978, PMID:8764072 ; - oboInOwl:hasDbXref UMLS:C1419009 ; oboInOwl:hasExactSynonym "PSMA7", "proteasome subunit alpha-4", "proteasome subunit, alpha-type, 7", "xapc7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5688 ; - skos:exactMatch HGNC_symbol:PSMA7 ; + skos:exactMatch UMLS:C1419009, + HGNC:9536, + HGNC_symbol:PSMA7 ; biolink:category biolink:Gene . OMIM:606608 a owl:Class ; @@ -224108,9 +232097,6 @@ OMIM:606608 a owl:Class ; PMID:7846762 ; RO:0002525 CHR:9606chr11q22.1 ; RO:0003303 OMIM:120433 ; - oboInOwl:hasDbXref UMLS:C0009363, - UMLS:C1424135, - UMLS:C3805432 ; oboInOwl:hasExactSynonym "YAP1", "yap", "yap2", @@ -224120,7 +232106,11 @@ OMIM:606608 a owl:Class ; "yorkie, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10413 ; - skos:exactMatch HGNC_symbol:YAP1 ; + skos:exactMatch UMLS:C0009363, + UMLS:C1424135, + UMLS:C3805432, + HGNC:16262, + HGNC_symbol:YAP1 ; biolink:category biolink:Gene . OMIM:606609 a owl:Class ; @@ -224153,31 +232143,33 @@ OMIM:606609 a owl:Class ; PMID:9371916 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:152700 ; - oboInOwl:hasDbXref UMLS:C0024145, - UMLS:C0796126, - UMLS:C1336670, - UMLS:C1860518, - UMLS:C3150315, - UMLS:C3862275 ; oboInOwl:hasExactSynonym "3-prime repair exonuclease 1", "TREX1", "dnase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11277 ; - skos:exactMatch HGNC_symbol:TREX1 ; + skos:exactMatch UMLS:C0024145, + UMLS:C0796126, + UMLS:C1336670, + UMLS:C1860518, + UMLS:C3150315, + UMLS:C3862275, + HGNC:12269, + HGNC_symbol:TREX1 ; biolink:category biolink:Gene . OMIM:606610 a owl:Class ; rdfs:label "NSFL1C" ; IAO:0000142 PMID:11042152, PMID:9214505 ; - oboInOwl:hasDbXref UMLS:C1423827 ; oboInOwl:hasExactSynonym "NSFL1C", "nsfl1 cofactor", "p47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55968 ; - skos:exactMatch HGNC_symbol:NSFL1C ; + skos:exactMatch UMLS:C1423827, + HGNC:15912, + HGNC_symbol:NSFL1C ; biolink:category biolink:Gene . OMIM:606611 a owl:Class ; @@ -224189,7 +232181,6 @@ OMIM:606611 a owl:Class ; PMID:17947548, PMID:18006661, PMID:19197024 ; - oboInOwl:hasDbXref UMLS:C1539241 ; oboInOwl:hasExactSynonym "DEFB103A", "defb103", "defensin, beta, 103a", @@ -224198,7 +232189,9 @@ OMIM:606611 a owl:Class ; "hbp3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55894 ; - skos:exactMatch HGNC_symbol:DEFB103B ; + skos:exactMatch UMLS:C1539241, + HGNC:31702, + HGNC_symbol:DEFB103B ; biolink:category biolink:Gene . OMIM:606612 a owl:Class ; @@ -224210,16 +232203,16 @@ OMIM:606612 a owl:Class ; PMID:14652796, PMID:16476814, PMID:17336067 ; - oboInOwl:hasDbXref UMLS:C1847759, - ORPHA:370959, - ORPHA:370968, - ORPHA:370980, - ORPHA:52428 ; oboInOwl:hasExactSynonym "MDDGB5", "muscular dystrophy, congenital, 1c", "muscular dystrophy, congenital, fkrp-related", "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5" ; rdfs:subClassOf OMIMPS:613155 ; + skos:exactMatch UMLS:C1847759, + ORPHA:370959, + ORPHA:370968, + ORPHA:370980, + ORPHA:52428 ; biolink:category biolink:Disease . OMIM:606614 a owl:Class ; @@ -224228,26 +232221,28 @@ OMIM:606614 a owl:Class ; PMID:11909944, PMID:9027497, PMID:9707409 ; - oboInOwl:hasDbXref UMLS:C1419282 ; oboInOwl:hasExactSynonym "RASGRF2", "ras protein-specific guanine nucleotide-releasing factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5924 ; - skos:exactMatch HGNC_symbol:RASGRF2 ; + skos:exactMatch UMLS:C1419282, + HGNC:9876, + HGNC_symbol:RASGRF2 ; biolink:category biolink:Gene . OMIM:606615 a owl:Class ; rdfs:label "HIF1AN" ; IAO:0000142 PMID:11641274, PMID:23793029 ; - oboInOwl:hasDbXref UMLS:C1424751 ; oboInOwl:hasExactSynonym "HIF1AN", "factor-inhibiting hif1a", "hif1a inhibitor", "hypoxia-inducible factor 1-alpha inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55662 ; - skos:exactMatch HGNC_symbol:HIF1AN ; + skos:exactMatch UMLS:C1424751, + HGNC:17113, + HGNC_symbol:HIF1AN ; biolink:category biolink:Gene . OMIM:606617 a owl:Class ; @@ -224258,13 +232253,14 @@ OMIM:606618 a owl:Class ; rdfs:label "DUSP14" ; IAO:0000142 PMID:11123293, PMID:19228121 ; - oboInOwl:hasDbXref UMLS:C1424682 ; oboInOwl:hasExactSynonym "DUSP14", "dual-specificity phosphatase 14", "map kinase phosphatase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11072 ; - skos:exactMatch HGNC_symbol:DUSP14 ; + skos:exactMatch UMLS:C1424682, + HGNC:17007, + HGNC_symbol:DUSP14 ; biolink:category biolink:Gene . OMIM:606619 a owl:Class ; @@ -224272,7 +232268,6 @@ OMIM:606619 a owl:Class ; IAO:0000142 PMID:11043382, PMID:11389701, PMID:17595169 ; - oboInOwl:hasDbXref UMLS:C1425986 ; oboInOwl:hasExactSynonym "GBA3", "beta-glucosidase, cytosolic", "beta-glycosidase, cytosolic", @@ -224280,19 +232275,22 @@ OMIM:606619 a owl:Class ; "klotho-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57733 ; - skos:exactMatch HGNC_symbol:GBA3 ; + skos:exactMatch UMLS:C1425986, + HGNC:19069, + HGNC_symbol:GBA3 ; biolink:category biolink:Gene . OMIM:606620 a owl:Class ; rdfs:label "SLAMF8" ; IAO:0000142 PMID:11313408 ; - oboInOwl:hasDbXref UMLS:C1427536 ; oboInOwl:hasExactSynonym "SLAMF8", "b-lymphocyte activator, macrophage-expressed", "slam family, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56833 ; - skos:exactMatch HGNC_symbol:SLAMF8 ; + skos:exactMatch UMLS:C1427536, + HGNC:21391, + HGNC_symbol:SLAMF8 ; biolink:category biolink:Gene . OMIM:606621 a owl:Class ; @@ -224302,7 +232300,6 @@ OMIM:606621 a owl:Class ; PMID:27060890 ; RO:0002525 CHR:9606chr3q13.12-q13.13 ; RO:0003303 OMIM:617927 ; - oboInOwl:hasDbXref UMLS:C1825568 ; oboInOwl:hasExactSynonym "IFT57", "estrogen-related receptor-beta-like 1", "hip1 protein interactor", @@ -224310,7 +232307,9 @@ OMIM:606621 a owl:Class ; "intraflagellar transport 57, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55081 ; - skos:exactMatch HGNC_symbol:IFT57 ; + skos:exactMatch UMLS:C1825568, + HGNC:17367, + HGNC_symbol:IFT57 ; biolink:category biolink:Gene . OMIM:606622 a owl:Class ; @@ -224327,14 +232326,15 @@ OMIM:606622 a owl:Class ; PMID:19793864 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:242900 ; - oboInOwl:hasDbXref UMLS:C1420250 ; oboInOwl:hasExactSynonym "SMARCAL1", "hepa-related protein", "smarca-like protein 1", "swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50485 ; - skos:exactMatch HGNC_symbol:SMARCAL1 ; + skos:exactMatch UMLS:C1420250, + HGNC:11102, + HGNC_symbol:SMARCAL1 ; biolink:category biolink:Gene . OMIM:606623 a owl:Class ; @@ -224342,7 +232342,6 @@ OMIM:606623 a owl:Class ; IAO:0000142 PMID:10896656, PMID:11513953, PMID:9188497 ; - oboInOwl:hasDbXref UMLS:C1537381 ; oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase 6", "3-alpha-hydroxysteroid epimerase", "HSD17B6", @@ -224350,7 +232349,9 @@ OMIM:606623 a owl:Class ; "retinol dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8630 ; - skos:exactMatch HGNC_symbol:HSD17B6 ; + skos:exactMatch UMLS:C1537381, + HGNC:23316, + HGNC_symbol:HSD17B6 ; biolink:category biolink:Gene . OMIM:606624 a owl:Class ; @@ -224368,14 +232369,15 @@ OMIM:606624 a owl:Class ; PMID:9000438, PMID:9539122, PMID:9539123 ; - oboInOwl:hasDbXref UMLS:C1422204 ; oboInOwl:hasExactSynonym "NEUROG2", "atoh4", "neurogenin 2", "ngn2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63973 ; - skos:exactMatch HGNC_symbol:NEUROG2 ; + skos:exactMatch UMLS:C1422204, + HGNC:13805, + HGNC_symbol:NEUROG2 ; biolink:category biolink:Gene . OMIM:606625 a owl:Class ; @@ -224384,7 +232386,6 @@ OMIM:606625 a owl:Class ; PMID:11698418, PMID:23956418, PMID:28424516 ; - oboInOwl:hasDbXref UMLS:C1427539 ; oboInOwl:hasExactSynonym "SLAMF7", "cd2-like receptor activating cytotoxic cells", "cd319", @@ -224392,7 +232393,9 @@ OMIM:606625 a owl:Class ; "slam family, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57823 ; - skos:exactMatch HGNC_symbol:SLAMF7 ; + skos:exactMatch UMLS:C1427539, + HGNC:21394, + HGNC_symbol:SLAMF7 ; biolink:category biolink:Gene . OMIM:606626 a owl:Class ; @@ -224403,13 +232406,14 @@ OMIM:606626 a owl:Class ; PMID:26526197, PMID:27626380, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1425340 ; oboInOwl:hasExactSynonym "DAAM1", "dishevelled-associated activator of morphogenesis 1", "kiaa0666" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23002 ; - skos:exactMatch HGNC_symbol:DAAM1 ; + skos:exactMatch UMLS:C1425340, + HGNC:18142, + HGNC_symbol:DAAM1 ; biolink:category biolink:Gene . OMIM:606627 a owl:Class ; @@ -224420,13 +232424,14 @@ OMIM:606627 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr6p21.2 ; RO:0003303 OMIM:619263 ; - oboInOwl:hasDbXref UMLS:C1425341 ; oboInOwl:hasExactSynonym "DAAM2", "dishevelled-associated activator of morphogenesis 2", "kiaa0381" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23500 ; - skos:exactMatch HGNC_symbol:DAAM2 ; + skos:exactMatch UMLS:C1425341, + HGNC:18143, + HGNC_symbol:DAAM2 ; biolink:category biolink:Gene . OMIM:606628 a owl:Class ; @@ -224441,12 +232446,13 @@ OMIM:606628 a owl:Class ; PMID:9495250 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:606664 ; - oboInOwl:hasDbXref UMLS:C1415165 ; oboInOwl:hasExactSynonym "GNMT", "glycine n-methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27232 ; - skos:exactMatch HGNC_symbol:GNMT ; + skos:exactMatch UMLS:C1415165, + HGNC:4415, + HGNC_symbol:GNMT ; biolink:category biolink:Gene . OMIM:606629 a owl:Class ; @@ -224470,8 +232476,6 @@ OMIM:606629 a owl:Class ; PMID:9634506 ; RO:0002525 CHR:9606chr6q13 ; RO:0003303 OMIM:603649 ; - oboInOwl:hasDbXref UMLS:C1424873, - UMLS:C1863634 ; oboInOwl:hasExactSynonym "RIMS1", "kiaa0340", "protein regulating synaptic membrane exocytosis 1", @@ -224479,7 +232483,10 @@ OMIM:606629 a owl:Class ; "rim" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22999 ; - skos:exactMatch HGNC_symbol:RIMS1 ; + skos:exactMatch UMLS:C1424873, + UMLS:C1863634, + HGNC:17282, + HGNC_symbol:RIMS1 ; biolink:category biolink:Gene . OMIM:606630 a owl:Class ; @@ -224492,8 +232499,6 @@ OMIM:606630 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr8q22.3 ; RO:0003303 OMIM:618970 ; - oboInOwl:hasDbXref UMLS:C1424874, - UMLS:C5436505 ; oboInOwl:hasExactSynonym "RIMS2", "kiaa0751", "oboe", @@ -224501,14 +232506,17 @@ OMIM:606630 a owl:Class ; "rab3a-interacting molecule 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9699 ; - skos:exactMatch HGNC_symbol:RIMS2 ; + skos:exactMatch UMLS:C1424874, + UMLS:C5436505, + HGNC:17283, + HGNC_symbol:RIMS2 ; biolink:category biolink:Gene . OMIM:606631 a owl:Class ; rdfs:label "camurati-engelmann disease, iia 2" ; - oboInOwl:hasDbXref UMLS:C2931683 ; oboInOwl:hasExactSynonym "caend2", "camurati-engelmann disease, iia 2" ; + skos:exactMatch UMLS:C2931683 ; biolink:category biolink:Disease . OMIM:606632 a owl:Class ; @@ -224516,8 +232524,8 @@ OMIM:606632 a owl:Class ; IAO:0000142 PMID:11799397, PMID:12089519, PMID:3769446 ; - oboInOwl:hasDbXref UMLS:C1847745 ; - oboInOwl:hasExactSynonym "odor, male, women's choice of" . + oboInOwl:hasExactSynonym "odor, male, women's choice of" ; + skos:exactMatch UMLS:C1847745 . OMIM:606633 a owl:Class ; rdfs:label "SP7" ; @@ -224529,14 +232537,15 @@ OMIM:606633 a owl:Class ; PMID:29382611 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:613849 ; - oboInOwl:hasDbXref UMLS:C1424900 ; oboInOwl:hasExactSynonym "SP7", "osterix", "specificity protein 7", "transcription factor sp7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121340 ; - skos:exactMatch HGNC_symbol:SP7 ; + skos:exactMatch UMLS:C1424900, + HGNC:17321, + HGNC_symbol:SP7 ; biolink:category biolink:Gene . OMIM:606635 a owl:Class ; @@ -224547,7 +232556,6 @@ OMIM:606635 a owl:Class ; PMID:8052624 ; RO:0002525 CHR:9606chr21q21.1 ; RO:0003303 OMIM:226200 ; - oboInOwl:hasDbXref UMLS:C1418973 ; oboInOwl:hasExactSynonym "TMPRSS15", "enterokinase", "proenterokinase", @@ -224555,7 +232563,9 @@ OMIM:606635 a owl:Class ; "transmembrane protease, serine 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5651 ; - skos:exactMatch HGNC_symbol:TMPRSS15 ; + skos:exactMatch UMLS:C1418973, + HGNC:9490, + HGNC_symbol:TMPRSS15 ; biolink:category biolink:Gene . OMIM:606636 a owl:Class ; @@ -224580,11 +232590,6 @@ OMIM:606636 a owl:Class ; PMID:31484767 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:606579 ; - oboInOwl:hasDbXref UMLS:C1826435, - UMLS:C1847835, - UMLS:C3808876, - UMLS:C4479278, - UMLS:C5394112 ; oboInOwl:hasExactSynonym "NLRP1", "card7", "death effector filament-forming ced4-like apoptosis protein", @@ -224596,7 +232601,13 @@ OMIM:606636 a owl:Class ; "nlrp1a, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22861 ; - skos:exactMatch HGNC_symbol:NLRP1 ; + skos:exactMatch UMLS:C1826435, + UMLS:C1847835, + UMLS:C3808876, + UMLS:C4479278, + UMLS:C5394112, + HGNC:14374, + HGNC_symbol:NLRP1 ; biolink:category biolink:Gene . OMIM:606637 a owl:Class ; @@ -224604,25 +232615,27 @@ OMIM:606637 a owl:Class ; IAO:0000142 PMID:10756099, PMID:16174724, PMID:7782089 ; - oboInOwl:hasDbXref UMLS:C1419179 ; oboInOwl:hasExactSynonym "PYY2", "peptide yy, 2", "seminalplasmin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23615 ; - skos:exactMatch HGNC_symbol:PYY2 ; + skos:exactMatch UMLS:C1419179, + HGNC:9749, + HGNC_symbol:PYY2 ; biolink:category biolink:Gene . OMIM:606638 a owl:Class ; rdfs:label "PPY2" ; IAO:0000142 PMID:10756099, PMID:7782089 ; - oboInOwl:hasDbXref UMLS:C1418857 ; oboInOwl:hasExactSynonym "PPY2", "pancreatic polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23614 ; - skos:exactMatch HGNC_symbol:PPY2P ; + skos:exactMatch UMLS:C1418857, + HGNC:9328, + HGNC_symbol:PPY2P ; biolink:category biolink:Gene . OMIM:606639 a owl:Class ; @@ -224636,14 +232649,15 @@ OMIM:606639 a owl:Class ; PMID:21119709 ; RO:0002525 CHR:9606chr3q25.32 ; RO:0003303 OMIM:609060 ; - oboInOwl:hasDbXref UMLS:C1539560 ; oboInOwl:hasExactSynonym "GFM1", "elongation factor g1", "gfm", "mitochondrial elongation factor g1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85476 ; - skos:exactMatch HGNC_symbol:GFM1 ; + skos:exactMatch UMLS:C1539560, + HGNC:13780, + HGNC_symbol:GFM1 ; biolink:category biolink:Gene . OMIM:606642 a owl:Class ; @@ -224654,55 +232668,59 @@ OMIM:606644 a owl:Class ; rdfs:label "IGSF8" ; IAO:0000142 PMID:11504738, PMID:11673522 ; - oboInOwl:hasDbXref UMLS:C1425097 ; oboInOwl:hasExactSynonym "IGSF8", "cd81 partner 3", "immunoglobulin superfamily, member 8", "prostaglandin regulatory-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93185 ; - skos:exactMatch HGNC_symbol:IGSF8 ; + skos:exactMatch UMLS:C1425097, + HGNC:17813, + HGNC_symbol:IGSF8 ; biolink:category biolink:Gene . OMIM:606645 a owl:Class ; rdfs:label "CENTD1" ; IAO:0000142 PMID:11804590, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1424639 ; oboInOwl:hasExactSynonym "CENTD1", "arf-gap, rho-gap, ankyrin repeat, and pleckstrin homology domains-containing protein 2", "centaurin, delta-1", "kiaa0580" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116984 ; - skos:exactMatch HGNC_symbol:ARAP2 ; + skos:exactMatch UMLS:C1424639, + HGNC:16924, + HGNC_symbol:ARAP2 ; biolink:category biolink:Gene . OMIM:606646 a owl:Class ; rdfs:label "CENTD2" ; IAO:0000142 PMID:11804590, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1424640 ; oboInOwl:hasExactSynonym "CENTD2", "arf-gap, rho-gap, ankyrin repeat, and pleckstrin homology domains-containing protein 1", "centaurin, delta-2", "kiaa0782" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116985 ; - skos:exactMatch HGNC_symbol:ARAP1 ; + skos:exactMatch UMLS:C1424640, + HGNC:16925, + HGNC_symbol:ARAP1 ; biolink:category biolink:Gene . OMIM:606647 a owl:Class ; rdfs:label "CENTD3" ; IAO:0000142 PMID:11804589, PMID:15569923 ; - oboInOwl:hasDbXref UMLS:C1538436 ; oboInOwl:hasExactSynonym "CENTD3", "arf-gap, rho-gap, ankyrin repeat, and pleckstrin homology domains-containing protein 3", "centaurin, delta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64411 ; - skos:exactMatch HGNC_symbol:ARAP3 ; + skos:exactMatch UMLS:C1538436, + HGNC:24097, + HGNC_symbol:ARAP3 ; biolink:category biolink:Gene . OMIM:606648 a owl:Class ; @@ -224711,13 +232729,14 @@ OMIM:606648 a owl:Class ; PMID:11390454, PMID:11481447, PMID:23075849 ; - oboInOwl:hasDbXref UMLS:C1423039 ; oboInOwl:hasExactSynonym "IL22RA2", "interleukin 22 receptor, alpha-2", "interleukin 22-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116379 ; - skos:exactMatch HGNC_symbol:IL22RA2 ; + skos:exactMatch UMLS:C1423039, + HGNC:14901, + HGNC_symbol:IL22RA2 ; biolink:category biolink:Gene . OMIM:606649 a owl:Class ; @@ -224728,7 +232747,6 @@ OMIM:606649 a owl:Class ; PMID:14707112, PMID:16728642, PMID:20404140 ; - oboInOwl:hasDbXref UMLS:C1422066 ; oboInOwl:hasExactSynonym "HIVEP3", "human immunodeficiency virus iia 1 enhancer-binding protein 3", "krc, mouse, homolog of", @@ -224736,7 +232754,9 @@ OMIM:606649 a owl:Class ; "zas family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59269 ; - skos:exactMatch HGNC_symbol:HIVEP3 ; + skos:exactMatch UMLS:C1422066, + HGNC:13561, + HGNC_symbol:HIVEP3 ; biolink:category biolink:Gene . OMIM:606650 a owl:Class ; @@ -224746,13 +232766,14 @@ OMIM:606650 a owl:Class ; PMID:16372019, PMID:31601771, PMID:9620802 ; - oboInOwl:hasDbXref UMLS:C1424528 ; oboInOwl:hasExactSynonym "GRIN3A", "glutamate receptor, ionotropic, n-methyl-d-aspartate 3a", "nr3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116443 ; - skos:exactMatch HGNC_symbol:GRIN3A ; + skos:exactMatch UMLS:C1424528, + HGNC:16767, + HGNC_symbol:GRIN3A ; biolink:category biolink:Gene . OMIM:606651 a owl:Class ; @@ -224760,13 +232781,14 @@ OMIM:606651 a owl:Class ; IAO:0000142 PMID:11735224, PMID:11823786, PMID:17687115 ; - oboInOwl:hasDbXref UMLS:C1424529 ; oboInOwl:hasExactSynonym "GRIN3B", "glutamate receptor, ionotropic, n-methyl-d-aspartate 3b", "nr3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116444 ; - skos:exactMatch HGNC_symbol:GRIN3B ; + skos:exactMatch UMLS:C1424529, + HGNC:16768, + HGNC_symbol:GRIN3B ; biolink:category biolink:Gene . OMIM:606652 a owl:Class ; @@ -224785,25 +232807,27 @@ OMIM:606652 a owl:Class ; PMID:30792187 ; RO:0002525 CHR:9606chr5q33.3 ; RO:0003303 OMIM:618398 ; - oboInOwl:hasDbXref UMLS:C1425514 ; oboInOwl:hasExactSynonym "HAVCR2", "hepatitis a virus cellular receptor 2", "t-cell immunoglobulin and mucin domains-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84868 ; - skos:exactMatch HGNC_symbol:HAVCR2 ; + skos:exactMatch UMLS:C1425514, + HGNC:18437, + HGNC_symbol:HAVCR2 ; biolink:category biolink:Gene . OMIM:606653 a owl:Class ; rdfs:label "LGR6" ; IAO:0000142 PMID:10935549, PMID:20223988 ; - oboInOwl:hasDbXref UMLS:C1426357 ; oboInOwl:hasExactSynonym "LGR6", "leucine-rich repeat-containing g protein-coupled receptor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59352 ; - skos:exactMatch HGNC_symbol:LGR6 ; + skos:exactMatch UMLS:C1426357, + HGNC:19719, + HGNC_symbol:LGR6 ; biolink:category biolink:Gene . OMIM:606654 a owl:Class ; @@ -224811,13 +232835,14 @@ OMIM:606654 a owl:Class ; IAO:0000142 PMID:10935549, PMID:11809971, PMID:9886856 ; - oboInOwl:hasDbXref UMLS:C1826958 ; oboInOwl:hasExactSynonym "RXFP1", "leucine-rich repeat-containing g protein-coupled receptor 7", "relaxin/insulin-like family peptide receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59350 ; - skos:exactMatch HGNC_symbol:RXFP1 ; + skos:exactMatch UMLS:C1826958, + HGNC:19718, + HGNC_symbol:RXFP1 ; biolink:category biolink:Gene . OMIM:606656 a owl:Class ; @@ -224829,14 +232854,15 @@ OMIM:606659 a owl:Class ; IAO:0000142 PMID:10552927, PMID:10611480, PMID:11391796 ; - oboInOwl:hasDbXref UMLS:C1420741 ; oboInOwl:hasExactSynonym "TIMM8B", "deafness/dystonia peptide 2", "tim8, yeast, homolog of, B", "translocase of inner mitochondrial membrane 8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26521 ; - skos:exactMatch HGNC_symbol:TIMM8B ; + skos:exactMatch UMLS:C1420741, + HGNC:11818, + HGNC_symbol:TIMM8B ; biolink:category biolink:Gene . OMIM:606663 a owl:Class ; @@ -224846,12 +232872,13 @@ OMIM:606663 a owl:Class ; PMID:20818376, PMID:9079631, PMID:9722957 ; - oboInOwl:hasDbXref UMLS:C1416899 ; oboInOwl:hasExactSynonym "LOXL2", "lysyl oxidase-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4017 ; - skos:exactMatch HGNC_symbol:LOXL2 ; + skos:exactMatch UMLS:C1416899, + HGNC:6666, + HGNC_symbol:LOXL2 ; biolink:category biolink:Gene . OMIM:606665 a owl:Class ; @@ -224874,13 +232901,14 @@ OMIM:606665 a owl:Class ; PMID:22051675, PMID:23151476, PMID:23334418 ; - oboInOwl:hasDbXref UMLS:C1422657 ; oboInOwl:hasExactSynonym "OPN4", "melanopsin", "opsin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94233 ; - skos:exactMatch HGNC_symbol:OPN4 ; + skos:exactMatch UMLS:C1422657, + HGNC:14449, + HGNC_symbol:OPN4 ; biolink:category biolink:Gene . OMIM:606666 a owl:Class ; @@ -224899,13 +232927,14 @@ OMIM:606666 a owl:Class ; PMID:9849958 ; RO:0002525 CHR:9606chr11p14.1 ; RO:0003303 OMIM:615311 ; - oboInOwl:hasDbXref UMLS:C1537569 ; oboInOwl:hasExactSynonym "LGR4", "g protein-coupled receptor 48", "leucine-rich repeat-containing g protein-coupled receptor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55366 ; - skos:exactMatch HGNC_symbol:LGR4 ; + skos:exactMatch UMLS:C1537569, + HGNC:13299, + HGNC_symbol:LGR4 ; biolink:category biolink:Gene . OMIM:606667 a owl:Class ; @@ -224924,13 +232953,14 @@ OMIM:606667 a owl:Class ; PMID:31092921, PMID:9642114, PMID:9849958 ; - oboInOwl:hasDbXref UMLS:C1537570 ; oboInOwl:hasExactSynonym "LGR5", "g protein-coupled receptor 49", "leucine-rich repeat-containing g protein-coupled receptor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8549 ; - skos:exactMatch HGNC_symbol:LGR5 ; + skos:exactMatch UMLS:C1537570, + HGNC:4504, + HGNC_symbol:LGR5 ; biolink:category biolink:Gene . OMIM:606669 a owl:Class ; @@ -224941,13 +232971,14 @@ OMIM:606669 a owl:Class ; PMID:12970317, PMID:16148001, PMID:27006401 ; - oboInOwl:hasDbXref UMLS:C1414878 ; oboInOwl:hasExactSynonym "FXYD5", "dysadherin", "fxyd domain-containing ion transport regulator 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53827 ; - skos:exactMatch HGNC_symbol:FXYD5 ; + skos:exactMatch UMLS:C1414878, + HGNC:4029, + HGNC_symbol:FXYD5 ; biolink:category biolink:Gene . OMIM:606670 a owl:Class ; @@ -224957,14 +232988,15 @@ OMIM:606670 a owl:Class ; PMID:8781118, PMID:8938444, PMID:9843442 ; - oboInOwl:hasDbXref UMLS:C1418823 ; oboInOwl:hasExactSynonym "PPP1R11", "protein phosphatase 1 inhibitor 3", "protein phosphatase 1, regulatory subunit 11", "tctex5, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6992 ; - skos:exactMatch HGNC_symbol:PPP1R11 ; + skos:exactMatch UMLS:C1418823, + HGNC:9285, + HGNC_symbol:PPP1R11 ; biolink:category biolink:Gene . OMIM:606671 a owl:Class ; @@ -224972,7 +233004,6 @@ OMIM:606671 a owl:Class ; IAO:0000142 PMID:10648423, PMID:11241789, PMID:15095401 ; - oboInOwl:hasDbXref UMLS:C1423524 ; oboInOwl:hasExactSynonym "NCKIPSD", "all1-fused gene from chromosome 3p21", "nck-interacting protein with sh3 domain", @@ -224980,7 +233011,9 @@ OMIM:606671 a owl:Class ; "wasp-interacting sh3 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51517 ; - skos:exactMatch HGNC_symbol:NCKIPSD ; + skos:exactMatch UMLS:C1423524, + HGNC:15486, + HGNC_symbol:NCKIPSD ; biolink:category biolink:Gene . OMIM:606672 a owl:Class ; @@ -225018,7 +233051,6 @@ OMIM:606672 a owl:Class ; PMID:9616133 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:258660 ; - oboInOwl:hasDbXref UMLS:C1415186 ; oboInOwl:hasExactSynonym "GP1BA", "cd42b", "glycocalicin", @@ -225027,7 +233059,9 @@ OMIM:606672 a owl:Class ; "platelet glycoprotein ib, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2811 ; - skos:exactMatch HGNC_symbol:GP1BA ; + skos:exactMatch UMLS:C1415186, + HGNC:4439, + HGNC_symbol:GP1BA ; biolink:category biolink:Gene . OMIM:606673 a owl:Class ; @@ -225039,27 +233073,29 @@ OMIM:606673 a owl:Class ; PMID:17964839 ; RO:0002525 CHR:9606chr22q11.23 ; RO:0003303 OMIM:613161 ; - oboInOwl:hasDbXref UMLS:C1424165 ; oboInOwl:hasExactSynonym "UPB1", "beta-alanine synthase", "beta-ureidopropionase", "bup1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51733 ; - skos:exactMatch HGNC_symbol:UPB1 ; + skos:exactMatch UMLS:C1424165, + HGNC:16297, + HGNC_symbol:UPB1 ; biolink:category biolink:Gene . OMIM:606676 a owl:Class ; rdfs:label "TRPV2" ; IAO:0000142 PMID:10201375, PMID:19050039 ; - oboInOwl:hasDbXref UMLS:C1425290 ; oboInOwl:hasExactSynonym "TRPV2", "transient receptor potential cation channel, subfamily v, member 2", "vanilloid receptor-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51393 ; - skos:exactMatch HGNC_symbol:TRPV2 ; + skos:exactMatch UMLS:C1425290, + HGNC:18082, + HGNC_symbol:TRPV2 ; biolink:category biolink:Gene . OMIM:606677 a owl:Class ; @@ -225070,7 +233106,6 @@ OMIM:606677 a owl:Class ; PMID:11748283, PMID:20628149, PMID:21880719 ; - oboInOwl:hasDbXref UMLS:C1539094 ; oboInOwl:hasExactSynonym "CLEC4C", "blood dendritic cell antigen 2", "c-type lectin domain family 4, member c", @@ -225081,7 +233116,9 @@ OMIM:606677 a owl:Class ; "lectin, c-type, superfamily member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170482 ; - skos:exactMatch HGNC_symbol:CLEC4C ; + skos:exactMatch UMLS:C1539094, + HGNC:13258, + HGNC_symbol:CLEC4C ; biolink:category biolink:Gene . OMIM:606678 a owl:Class ; @@ -225102,14 +233139,15 @@ OMIM:606678 a owl:Class ; PMID:29217583, PMID:30733385, PMID:31488702 ; - oboInOwl:hasDbXref UMLS:C1425206 ; oboInOwl:hasExactSynonym "TRPM8", "cold-menthol receptor 1", "transient receptor potential cation channel, subfamily m, member 8", "trpp8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79054 ; - skos:exactMatch HGNC_symbol:TRPM8 ; + skos:exactMatch UMLS:C1425206, + HGNC:17961, + HGNC_symbol:TRPM8 ; biolink:category biolink:Gene . OMIM:606679 a owl:Class ; @@ -225121,14 +233159,15 @@ OMIM:606679 a owl:Class ; PMID:14679186, PMID:16239475, PMID:16291808 ; - oboInOwl:hasDbXref UMLS:C1414243 ; oboInOwl:hasExactSynonym "TRPV5", "calcium transporter 2", "epithelial calcium channel 1", "transient receptor potential cation channel, subfamily v, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56302 ; - skos:exactMatch HGNC_symbol:TRPV5 ; + skos:exactMatch UMLS:C1414243, + HGNC:3145, + HGNC_symbol:TRPV5 ; biolink:category biolink:Gene . OMIM:606680 a owl:Class ; @@ -225148,7 +233187,6 @@ OMIM:606680 a owl:Class ; PMID:29861107 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:618188 ; - oboInOwl:hasDbXref UMLS:C1422342 ; oboInOwl:hasExactSynonym "TRPV6", "calcium transporter 1", "calcium transporter-like protein", @@ -225156,7 +233194,9 @@ OMIM:606680 a owl:Class ; "transient receptor potential cation channel, subfamily v, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55503 ; - skos:exactMatch HGNC_symbol:TRPV6 ; + skos:exactMatch UMLS:C1422342, + HGNC:14006, + HGNC_symbol:TRPV6 ; biolink:category biolink:Gene . OMIM:606681 a owl:Class ; @@ -225189,8 +233229,6 @@ OMIM:606681 a owl:Class ; PMID:9820031 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:117550 ; - oboInOwl:hasDbXref UMLS:C1422496, - UMLS:C1847677 ; oboInOwl:hasExactSynonym "NSD1", "androgen receptor-associated coregulator 267", "nsd1/nup98 fusion gene", @@ -225199,7 +233237,10 @@ OMIM:606681 a owl:Class ; "set domain protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64324 ; - skos:exactMatch HGNC_symbol:NSD1 ; + skos:exactMatch UMLS:C1422496, + UMLS:C1847677, + HGNC:14234, + HGNC_symbol:NSD1 ; biolink:category biolink:Gene . OMIM:606682 a owl:Class ; @@ -225211,15 +233252,16 @@ OMIM:606682 a owl:Class ; PMID:6031677 ; RO:0002525 CHR:9606chr22q12.1 ; RO:0003303 OMIM:614073 ; - oboInOwl:hasDbXref UMLS:C1423767, - UMLS:C3484357 ; oboInOwl:hasExactSynonym "HPS4", "hps4 biogenesis of lysosomal organelles complex 3, subunit 2", "hps4 gene", "light ear, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89781 ; - skos:exactMatch HGNC_symbol:HPS4 ; + skos:exactMatch UMLS:C1423767, + UMLS:C3484357, + HGNC:15844, + HGNC_symbol:HPS4 ; biolink:category biolink:Gene . OMIM:606683 a owl:Class ; @@ -225227,24 +233269,26 @@ OMIM:606683 a owl:Class ; IAO:0000142 PMID:10950925, PMID:15193427, PMID:17357072 ; - oboInOwl:hasDbXref UMLS:C1414879 ; oboInOwl:hasExactSynonym "FXYD6", "fxyd domain-containing ion transport regulator 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53826 ; - skos:exactMatch HGNC_symbol:FXYD6 ; + skos:exactMatch UMLS:C1414879, + HGNC:4030, + HGNC_symbol:FXYD6 ; biolink:category biolink:Gene . OMIM:606684 a owl:Class ; rdfs:label "FXYD7" ; IAO:0000142 PMID:10950925, PMID:12093728 ; - oboInOwl:hasDbXref UMLS:C1414883 ; oboInOwl:hasExactSynonym "FXYD7", "fxyd domain-containing ion transport regulator 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53822 ; - skos:exactMatch HGNC_symbol:FXYD7 ; + skos:exactMatch UMLS:C1414883, + HGNC:4034, + HGNC_symbol:FXYD7 ; biolink:category biolink:Gene . OMIM:606685 a owl:Class ; @@ -225254,11 +233298,11 @@ OMIM:606685 a owl:Class ; PMID:23695275, PMID:9097966, PMID:9391120 ; - oboInOwl:hasDbXref UMLS:C1847667, - ORPHA:154 ; oboInOwl:hasExactSynonym "CMD1L", "cardiomyopathy, dilated, 1l" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1847667, + ORPHA:154 ; biolink:category biolink:Disease . OMIM:606686 a owl:Class ; @@ -225275,14 +233319,15 @@ OMIM:606686 a owl:Class ; PMID:7495858 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:603896 ; - oboInOwl:hasDbXref UMLS:C1414327 ; oboInOwl:hasExactSynonym "EIF2B1", "eif2b-alpha", "eukaryotic translation initiation factor 2b, alpha", "eukaryotic translation initiation factor 2b, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1967 ; - skos:exactMatch HGNC_symbol:EIF2B1 ; + skos:exactMatch UMLS:C1414327, + HGNC:3257, + HGNC_symbol:EIF2B1 ; biolink:category biolink:Gene . OMIM:606687 a owl:Class ; @@ -225297,14 +233342,15 @@ OMIM:606687 a owl:Class ; PMID:8929216 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:603896 ; - oboInOwl:hasDbXref UMLS:C1414330 ; oboInOwl:hasExactSynonym "EIF2B4", "eif2b-delta", "eukaryotic translation initiation factor 2b, delta", "eukaryotic translation initiation factor 2b, subunit 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8890 ; - skos:exactMatch HGNC_symbol:EIF2B4 ; + skos:exactMatch UMLS:C1414330, + HGNC:3260, + HGNC_symbol:EIF2B4 ; biolink:category biolink:Gene . OMIM:606688 a owl:Class ; @@ -225313,8 +233359,8 @@ OMIM:606688 a owl:Class ; PMID:16831973, PMID:9266722, PMID:9384372 ; - oboInOwl:hasDbXref UMLS:C1847650 ; oboInOwl:hasExactSynonym "spongiform encephalopathy with neuropsychiatric features" ; + skos:exactMatch UMLS:C1847650 ; biolink:category biolink:Disease . OMIM:606690 a owl:Class ; @@ -225330,23 +233376,24 @@ OMIM:606690 a owl:Class ; PMID:8323071, PMID:8857007, PMID:9529362 ; - oboInOwl:hasDbXref UMLS:C0751674 ; oboInOwl:hasExactSynonym "LAM", "lymphangioleiomyomatosis", "lymphangiomyomatosis" ; + skos:exactMatch UMLS:C0751674 ; biolink:category biolink:Disease . OMIM:606691 a owl:Class ; rdfs:label "CEACAM19" ; IAO:0000142 PMID:12801635 ; - oboInOwl:hasDbXref UMLS:C1824695 ; oboInOwl:hasExactSynonym "CEACAM19", "carcinoembryonic antigen-like 1", "carcinoembryonic antigen-related cell adhesion molecule 19", "cea cell adhesion molecule 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56971 ; - skos:exactMatch HGNC_symbol:CEACAM19 ; + skos:exactMatch UMLS:C1824695, + HGNC:31951, + HGNC_symbol:CEACAM19 ; biolink:category biolink:Gene . OMIM:606692 a owl:Class ; @@ -225356,13 +233403,14 @@ OMIM:606692 a owl:Class ; PMID:29961569 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:618164 ; - oboInOwl:hasDbXref UMLS:C1540047 ; oboInOwl:hasExactSynonym "TRAF7", "ring finger and wd repeat domains-containing protein 1", "tnf receptor-associated factor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84231 ; - skos:exactMatch HGNC_symbol:TRAF7 ; + skos:exactMatch UMLS:C1540047, + HGNC:20456, + HGNC_symbol:TRAF7 ; biolink:category biolink:Gene . OMIM:606693 a owl:Class ; @@ -225383,14 +233431,14 @@ OMIM:606693 a owl:Class ; PMID:4082923, PMID:495089, PMID:8085432 ; - oboInOwl:hasDbXref UMLS:C1847640, - ORPHA:306674, - ORPHA:314632 ; oboInOwl:hasExactSynonym "KRS", "kufor-rakeb syndrome", "pallidopyramidal degeneration with supranuclear upgaze paresis and dementia", "parkinson disease 9, autosomal recessive, juvenile-onset" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1847640, + ORPHA:306674, + ORPHA:314632 ; biolink:category biolink:Disease . OMIM:606694 a owl:Class ; @@ -225404,27 +233452,29 @@ OMIM:606694 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:615770 ; - oboInOwl:hasDbXref UMLS:C1417893 ; oboInOwl:hasExactSynonym "NUP155", "kiaa0791", "nucleoporin, 155-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9631 ; - skos:exactMatch HGNC_symbol:NUP155 ; + skos:exactMatch UMLS:C1417893, + HGNC:8063, + HGNC_symbol:NUP155 ; biolink:category biolink:Gene . OMIM:606695 a owl:Class ; rdfs:label "OPN3" ; IAO:0000142 PMID:10234000, PMID:11401433 ; - oboInOwl:hasDbXref UMLS:C1422343 ; oboInOwl:hasExactSynonym "OPN3", "encephalopsin", "opsin 3", "panopsin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23596 ; - skos:exactMatch HGNC_symbol:OPN3 ; + skos:exactMatch UMLS:C1422343, + HGNC:14007, + HGNC_symbol:OPN3 ; biolink:category biolink:Gene . OMIM:606696 a owl:Class ; @@ -225435,61 +233485,66 @@ OMIM:606696 a owl:Class ; PMID:20339000, PMID:22325007, PMID:9658175 ; - oboInOwl:hasDbXref UMLS:C1416541 ; oboInOwl:hasExactSynonym "KATNA1", "katanin, p60 subunit, a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11104 ; - skos:exactMatch HGNC_symbol:KATNA1 ; + skos:exactMatch UMLS:C1416541, + HGNC:6216, + HGNC_symbol:KATNA1 ; biolink:category biolink:Gene . OMIM:606697 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:9731181 ; - oboInOwl:hasDbXref UMLS:C1427184 ; oboInOwl:hasExactSynonym "zinc finger protein zk1", "zk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10224 ; - skos:exactMatch HGNC_symbol:ZNF443 ; + skos:exactMatch UMLS:C1427184, + HGNC:20878, + HGNC_symbol:ZNF443 ; biolink:category biolink:Gene . OMIM:606698 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10359848 ; - oboInOwl:hasDbXref UMLS:C1539806 ; oboInOwl:hasExactSynonym "sox30", "sry-box 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11063 ; - skos:exactMatch HGNC_symbol:SOX30 ; + skos:exactMatch UMLS:C1539806, + HGNC:30635, + HGNC_symbol:SOX30 ; biolink:category biolink:Gene . OMIM:606699 a owl:Class ; rdfs:label "HELZ" ; IAO:0000142 PMID:10471385, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1424612 ; oboInOwl:hasExactSynonym "HELZ", "helicase with zinc finger domain", "humorf5", "kiaa0054" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9931 ; - skos:exactMatch HGNC_symbol:HELZ ; + skos:exactMatch UMLS:C1424612, + HGNC:16878, + HGNC_symbol:HELZ ; biolink:category biolink:Gene . OMIM:606700 a owl:Class ; rdfs:label "MIDN" ; IAO:0000142 PMID:10974535, PMID:24187134 ; - oboInOwl:hasDbXref UMLS:C1424166 ; oboInOwl:hasExactSynonym "MIDN", "midnolin", "midnolin, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90007 ; - skos:exactMatch HGNC_symbol:MIDN ; + skos:exactMatch UMLS:C1424166, + HGNC:16298, + HGNC_symbol:MIDN ; biolink:category biolink:Gene . OMIM:606701 a owl:Class ; @@ -225498,14 +233553,15 @@ OMIM:606701 a owl:Class ; PMID:11498051, PMID:24214975, PMID:7496632 ; - oboInOwl:hasDbXref UMLS:C1427595 ; oboInOwl:hasExactSynonym "DRGX", "dorsal root ganglia homeobox", "drg11, rat, homolog of", "prrxl1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644168 ; - skos:exactMatch HGNC_symbol:DRGX ; + skos:exactMatch UMLS:C1427595, + HGNC:21536, + HGNC_symbol:DRGX ; biolink:category biolink:Gene . OMIM:606702 a owl:Class ; @@ -225534,7 +233590,6 @@ OMIM:606702 a owl:Class ; PMID:7977390 ; RO:0002525 CHR:9606chr6p12.3-p12.2 ; RO:0003303 OMIM:263200 ; - oboInOwl:hasDbXref UMLS:C1418605 ; oboInOwl:hasExactSynonym "PKHD1", "fibrocystin", "pkhd1 ciliary ipt domain-containing fibrocystin/polyductin", @@ -225542,7 +233597,9 @@ OMIM:606702 a owl:Class ; "polyductin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5314 ; - skos:exactMatch HGNC_symbol:PKHD1 ; + skos:exactMatch UMLS:C1418605, + HGNC:9016, + HGNC_symbol:PKHD1 ; biolink:category biolink:Gene . OMIM:606703 a owl:Class ; @@ -225552,22 +233609,23 @@ OMIM:606703 a owl:Class ; PMID:16537460, PMID:22782511, PMID:24700542 ; - oboInOwl:hasDbXref UMLS:C1847627 ; oboInOwl:hasExactSynonym "DSKOD", "dyskinesia with orofacial involvement, autosomal dominant", "dyskinesia, familial, with facial myokymia" ; rdfs:subClassOf OMIMPS:606703 ; + skos:exactMatch UMLS:C1847627 ; biolink:category biolink:Disease . OMIM:606704 a owl:Class ; rdfs:label "GPR75" ; IAO:0000142 PMID:10381362 ; - oboInOwl:hasDbXref UMLS:C1415257 ; oboInOwl:hasExactSynonym "GPR75", "g protein-coupled receptor 75" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10936 ; - skos:exactMatch HGNC_symbol:GPR75 ; + skos:exactMatch UMLS:C1415257, + HGNC:4526, + HGNC_symbol:GPR75 ; biolink:category biolink:Gene . OMIM:606705 a owl:Class ; @@ -225578,10 +233636,10 @@ OMIM:606705 a owl:Class ; PMID:18616530, PMID:24827932, PMID:27236922 ; - oboInOwl:hasDbXref UMLS:C1847626 ; oboInOwl:hasExactSynonym "DFNA36", "deafness, autosomal dominant 36" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1847626 ; biolink:category biolink:Disease . OMIM:606706 a owl:Class ; @@ -225599,13 +233657,14 @@ OMIM:606706 a owl:Class ; PMID:29258297 ; RO:0002525 CHR:9606chr9q21.13 ; RO:0003303 OMIM:600974 ; - oboInOwl:hasDbXref UMLS:C1424345 ; oboInOwl:hasExactSynonym "TMC1", "transmembrane channel-like protein 1", "transmembrane cochlear-expressed gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117531 ; - skos:exactMatch HGNC_symbol:TMC1 ; + skos:exactMatch UMLS:C1424345, + HGNC:16513, + HGNC_symbol:TMC1 ; biolink:category biolink:Gene . OMIM:606707 a owl:Class ; @@ -225613,13 +233672,14 @@ OMIM:606707 a owl:Class ; IAO:0000142 PMID:11850618, PMID:22105175, PMID:23871232 ; - oboInOwl:hasDbXref UMLS:C1424355 ; oboInOwl:hasExactSynonym "TMC2", "transmembrane channel-like protein 2", "transmembrane cochlear-expressed gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117532 ; - skos:exactMatch HGNC_symbol:TMC2 ; + skos:exactMatch UMLS:C1424355, + HGNC:16527, + HGNC_symbol:TMC2 ; biolink:category biolink:Gene . OMIM:606709 a owl:Class ; @@ -225633,7 +233693,6 @@ OMIM:606709 a owl:Class ; PMID:9540828 ; RO:0002525 CHR:9606chr4q26 ; RO:0003303 OMIM:249500 ; - oboInOwl:hasDbXref UMLS:C1418967 ; oboInOwl:hasExactSynonym "PRSS12", "brain-specific serine protease 3", "motopsin", @@ -225641,33 +233700,37 @@ OMIM:606709 a owl:Class ; "protease, serine, 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8492 ; - skos:exactMatch HGNC_symbol:PRSS12 ; + skos:exactMatch UMLS:C1418967, + HGNC:9477, + HGNC_symbol:PRSS12 ; biolink:category biolink:Gene . OMIM:606710 a owl:Class ; rdfs:label "LHFPL6" ; IAO:0000142 PMID:10329012 ; - oboInOwl:hasDbXref UMLS:C1416844, - UMLS:C1847620 ; oboInOwl:hasExactSynonym "LHFPL6", "lhfp/hmgic fusion gene", "lhfpl tetraspan subfamily, member 6", "lipoma hmgic fusion partner" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10186 ; - skos:exactMatch HGNC_symbol:LHFPL6 ; + skos:exactMatch UMLS:C1416844, + UMLS:C1847620, + HGNC:6586, + HGNC_symbol:LHFPL6 ; biolink:category biolink:Gene . OMIM:606714 a owl:Class ; rdfs:label "PNRC1" ; IAO:0000142 PMID:7578250 ; - oboInOwl:hasDbXref UMLS:C1424869 ; oboInOwl:hasExactSynonym "PNRC1", "proline-rich nuclear receptor coactivator 1", "proline-rich protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10957 ; - skos:exactMatch HGNC_symbol:PNRC1 ; + skos:exactMatch UMLS:C1424869, + HGNC:17278, + HGNC_symbol:PNRC1 ; biolink:category biolink:Gene . OMIM:606715 a owl:Class ; @@ -225675,14 +233738,15 @@ OMIM:606715 a owl:Class ; IAO:0000142 PMID:10852210, PMID:11571555, PMID:16185661 ; - oboInOwl:hasDbXref UMLS:C1427464 ; oboInOwl:hasExactSynonym "ASIC4", "acid-sensing ion channel, subunit 4", "brain sodium channel 4", "cation channel, amiloride-sensitive, neuronal, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55515 ; - skos:exactMatch HGNC_symbol:ASIC4 ; + skos:exactMatch UMLS:C1427464, + HGNC:21263, + HGNC_symbol:ASIC4 ; biolink:category biolink:Gene . OMIM:606716 a owl:Class ; @@ -225691,14 +233755,15 @@ OMIM:606716 a owl:Class ; PMID:20392701, PMID:21886157, PMID:9852678 ; - oboInOwl:hasDbXref UMLS:C1425280 ; oboInOwl:hasExactSynonym "NAT8", "camello, xenopus, homolog of, 1", "n-acetyltransferase 8", "tsc510" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9027 ; - skos:exactMatch HGNC_symbol:NAT8 ; + skos:exactMatch UMLS:C1425280, + HGNC:18069, + HGNC_symbol:NAT8 ; biolink:category biolink:Gene . OMIM:606717 a owl:Class ; @@ -225707,12 +233772,13 @@ OMIM:606717 a owl:Class ; PMID:11175744, PMID:18192275, PMID:30842236 ; - oboInOwl:hasDbXref UMLS:C1337027 ; oboInOwl:hasExactSynonym "XAF1", "xiap-associated factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54739 ; - skos:exactMatch HGNC_symbol:XAF1 ; + skos:exactMatch UMLS:C1337027, + HGNC:30932, + HGNC_symbol:XAF1 ; biolink:category biolink:Gene . OMIM:606718 a owl:Class ; @@ -225744,13 +233810,14 @@ OMIM:606718 a owl:Class ; PMID:9637425 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:226900 ; - oboInOwl:hasDbXref UMLS:C1420162 ; oboInOwl:hasExactSynonym "SLC26A2", "dtd sulfate transporter", "solute carrier family 26 (sulfate transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1836 ; - skos:exactMatch HGNC_symbol:SLC26A2 ; + skos:exactMatch UMLS:C1420162, + HGNC:10994, + HGNC_symbol:SLC26A2 ; biolink:category biolink:Gene . OMIM:606720 a owl:Class ; @@ -225759,13 +233826,14 @@ OMIM:606720 a owl:Class ; PMID:18936097, PMID:2350438, PMID:24344237 ; - oboInOwl:hasDbXref UMLS:C1847590 ; oboInOwl:hasExactSynonym "ENDOU", "endonuclease, poly(u)-specific", "placental protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8909 ; - skos:exactMatch HGNC_symbol:ENDOU ; + skos:exactMatch UMLS:C1847590, + HGNC:14369, + HGNC_symbol:ENDOU ; biolink:category biolink:Gene . OMIM:606721 a owl:Class ; @@ -225774,23 +233842,24 @@ OMIM:606721 a owl:Class ; PMID:11781404, PMID:18237401, PMID:25898808 ; - oboInOwl:hasDbXref UMLS:C3807567 ; oboInOwl:hasExactSynonym "FPLD7", "lipodystrophy, familial partial, iia 7", "partial lipodystrophy, congenital cataracts, with or without neurodegeneration syndrome" ; rdfs:subClassOf OMIMPS:151660 ; + skos:exactMatch UMLS:C3807567 ; biolink:category biolink:Disease . OMIM:606722 a owl:Class ; rdfs:label "NCALD" ; IAO:0000142 PMID:11267673, PMID:28132687 ; - oboInOwl:hasDbXref UMLS:C1417604 ; oboInOwl:hasExactSynonym "NCALD", "neurocalcin, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83988 ; - skos:exactMatch HGNC_symbol:NCALD ; + skos:exactMatch UMLS:C1417604, + HGNC:7655, + HGNC_symbol:NCALD ; biolink:category biolink:Gene . OMIM:606723 a owl:Class ; @@ -225798,14 +233867,15 @@ OMIM:606723 a owl:Class ; IAO:0000142 PMID:17254968, PMID:9480836, PMID:9628874 ; - oboInOwl:hasDbXref UMLS:C1417029 ; oboInOwl:hasExactSynonym "MAPKAPK5", "mapkap kinase 5", "mitogen-activated protein kinase-activated protein kinase 5", "p38-regulated/activated kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8550 ; - skos:exactMatch HGNC_symbol:MAPKAPK5 ; + skos:exactMatch UMLS:C1417029, + HGNC:6889, + HGNC_symbol:MAPKAPK5 ; biolink:category biolink:Gene . OMIM:606724 a owl:Class ; @@ -225813,13 +233883,14 @@ OMIM:606724 a owl:Class ; IAO:0000142 PMID:9155017, PMID:9155018, PMID:9878069 ; - oboInOwl:hasDbXref UMLS:C1334509 ; oboInOwl:hasExactSynonym "MKNK1", "mapk-interacting kinase 1", "mitogen-activated protein kinase-interacting serine/threonine kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8569 ; - skos:exactMatch HGNC_symbol:MKNK1 ; + skos:exactMatch UMLS:C1334509, + HGNC:7110, + HGNC_symbol:MKNK1 ; biolink:category biolink:Gene . OMIM:606725 a owl:Class ; @@ -225838,15 +233909,16 @@ OMIM:606725 a owl:Class ; PMID:9600738 ; RO:0002525 CHR:9606chr15q23 ; RO:0003303 OMIM:204300 ; - oboInOwl:hasDbXref UMLS:C0022797, - UMLS:C1413498, - UMLS:C1866282 ; oboInOwl:hasExactSynonym "CLN6", "cln6 gene", "cln6 transmembrane er protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54982 ; - skos:exactMatch HGNC_symbol:CLN6 ; + skos:exactMatch UMLS:C0022797, + UMLS:C1413498, + UMLS:C1866282, + HGNC:2077, + HGNC_symbol:CLN6 ; biolink:category biolink:Gene . OMIM:606726 a owl:Class ; @@ -225864,16 +233936,17 @@ OMIM:606726 a owl:Class ; PMID:9930699 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:616685 ; - oboInOwl:hasDbXref UMLS:C1422213, - UMLS:C4225245, - UMLS:C4225257 ; oboInOwl:hasExactSynonym "SLC12A5", "kiaa1176", "potassium-chloride cotransporter 2", "solute carrier family 12 (potassium/chloride transporter), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57468 ; - skos:exactMatch HGNC_symbol:SLC12A5 ; + skos:exactMatch UMLS:C1422213, + UMLS:C4225245, + UMLS:C4225257, + HGNC:13818, + HGNC_symbol:SLC12A5 ; biolink:category biolink:Gene . OMIM:606727 a owl:Class ; @@ -225881,7 +233954,6 @@ OMIM:606727 a owl:Class ; IAO:0000142 PMID:10207146, PMID:10790368, PMID:8812123 ; - oboInOwl:hasDbXref UMLS:C1417736 ; oboInOwl:hasExactSynonym "NKX2-3", "cardiac-specific homeobox 3", "nk2 homeobox 3", @@ -225889,7 +233961,9 @@ OMIM:606727 a owl:Class ; "nk2.3, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:159296 ; - skos:exactMatch HGNC_symbol:NKX2-3 ; + skos:exactMatch UMLS:C1417736, + HGNC:7836, + HGNC_symbol:NKX2-3 ; biolink:category biolink:Gene . OMIM:606728 a owl:Class ; @@ -225898,28 +233972,30 @@ OMIM:606728 a owl:Class ; PMID:19525939, PMID:2390065, PMID:8241023 ; - oboInOwl:hasDbXref UMLS:C1419916 ; oboInOwl:hasExactSynonym "CAVIN2", "caveolae-associated protein 2", "sdr", "serum deprivation response phosphatidylserine-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8436 ; - skos:exactMatch HGNC_symbol:CAVIN2 ; + skos:exactMatch UMLS:C1419916, + HGNC:10690, + HGNC_symbol:CAVIN2 ; biolink:category biolink:Gene . OMIM:606729 a owl:Class ; rdfs:label "OSBP2" ; IAO:0000142 PMID:11278871, PMID:24742681 ; - oboInOwl:hasDbXref UMLS:C1418189 ; oboInOwl:hasExactSynonym "OSBP2", "kiaa1664", "osbp-related protein 4", "oxysterol-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23762 ; - skos:exactMatch HGNC_symbol:OSBP2 ; + skos:exactMatch UMLS:C1418189, + HGNC:8504, + HGNC_symbol:OSBP2 ; biolink:category biolink:Gene . OMIM:606730 a owl:Class ; @@ -225928,14 +234004,15 @@ OMIM:606730 a owl:Class ; PMID:11279184, PMID:11483621, PMID:11735225 ; - oboInOwl:hasDbXref UMLS:C1424249 ; oboInOwl:hasExactSynonym "OSBPL1A", "osbp-related protein 1", "osbpl1b", "oxysterol-binding protein-like protein 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114876 ; - skos:exactMatch HGNC_symbol:OSBPL1A ; + skos:exactMatch UMLS:C1424249, + HGNC:16398, + HGNC_symbol:OSBPL1A ; biolink:category biolink:Gene . OMIM:606731 a owl:Class ; @@ -225949,14 +234026,15 @@ OMIM:606731 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:616340 ; - oboInOwl:hasDbXref UMLS:C1423710 ; oboInOwl:hasExactSynonym "OSBPL2", "kiaa0772", "osbp-related protein 2", "oxysterol-binding protein-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9885 ; - skos:exactMatch HGNC_symbol:OSBPL2 ; + skos:exactMatch UMLS:C1423710, + HGNC:15761, + HGNC_symbol:OSBPL2 ; biolink:category biolink:Gene . OMIM:606732 a owl:Class ; @@ -225965,14 +234043,15 @@ OMIM:606732 a owl:Class ; PMID:11483621, PMID:11735225, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1424223 ; oboInOwl:hasExactSynonym "OSBPL3", "kiaa0704", "osbp-related protein 3", "oxysterol-binding protein-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26031 ; - skos:exactMatch HGNC_symbol:OSBPL3 ; + skos:exactMatch UMLS:C1424223, + HGNC:16370, + HGNC_symbol:OSBPL3 ; biolink:category biolink:Gene . OMIM:606733 a owl:Class ; @@ -225984,7 +234063,6 @@ OMIM:606733 a owl:Class ; PMID:12504849, PMID:23934110, PMID:26206935 ; - oboInOwl:hasDbXref UMLS:C1424243 ; oboInOwl:hasExactSynonym "OSBPL5", "kiaa1534", "obph1", @@ -225992,7 +234070,9 @@ OMIM:606733 a owl:Class ; "oxysterol-binding protein-like protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114879 ; - skos:exactMatch HGNC_symbol:OSBPL5 ; + skos:exactMatch UMLS:C1424243, + HGNC:16392, + HGNC_symbol:OSBPL5 ; biolink:category biolink:Gene . OMIM:606734 a owl:Class ; @@ -226000,26 +234080,28 @@ OMIM:606734 a owl:Class ; IAO:0000142 PMID:10588946, PMID:11483621, PMID:11735225 ; - oboInOwl:hasDbXref UMLS:C1424239 ; oboInOwl:hasExactSynonym "OSBPL6", "osbp-related protein 6", "oxysterol-binding protein-like protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114880 ; - skos:exactMatch HGNC_symbol:OSBPL6 ; + skos:exactMatch UMLS:C1424239, + HGNC:16388, + HGNC_symbol:OSBPL6 ; biolink:category biolink:Gene . OMIM:606735 a owl:Class ; rdfs:label "OSBPL7" ; IAO:0000142 PMID:11483621, PMID:11735225 ; - oboInOwl:hasDbXref UMLS:C1424238 ; oboInOwl:hasExactSynonym "OSBPL7", "osbp-related protein 7", "oxysterol-binding protein-like protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114881 ; - skos:exactMatch HGNC_symbol:OSBPL7 ; + skos:exactMatch UMLS:C1424238, + HGNC:16387, + HGNC_symbol:OSBPL7 ; biolink:category biolink:Gene . OMIM:606736 a owl:Class ; @@ -226028,14 +234110,15 @@ OMIM:606736 a owl:Class ; PMID:11483621, PMID:11735225, PMID:26206935 ; - oboInOwl:hasDbXref UMLS:C1424247 ; oboInOwl:hasExactSynonym "OSBPL8", "kiaa1451", "osbp-related protein 8", "oxysterol-binding protein-like protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114882 ; - skos:exactMatch HGNC_symbol:OSBPL8 ; + skos:exactMatch UMLS:C1424247, + HGNC:16396, + HGNC_symbol:OSBPL8 ; biolink:category biolink:Gene . OMIM:606737 a owl:Class ; @@ -226044,13 +234127,14 @@ OMIM:606737 a owl:Class ; PMID:11735225, PMID:15212954, PMID:19129476 ; - oboInOwl:hasDbXref UMLS:C1424237 ; oboInOwl:hasExactSynonym "OSBPL9", "osbp-related protein 9", "oxysterol-binding protein-like protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114883 ; - skos:exactMatch HGNC_symbol:OSBPL9 ; + skos:exactMatch UMLS:C1424237, + HGNC:16386, + HGNC_symbol:OSBPL9 ; biolink:category biolink:Gene . OMIM:606738 a owl:Class ; @@ -226058,13 +234142,14 @@ OMIM:606738 a owl:Class ; IAO:0000142 PMID:11483621, PMID:11735225, PMID:23934110 ; - oboInOwl:hasDbXref UMLS:C1424246 ; oboInOwl:hasExactSynonym "OSBPL10", "osbp-related protein 10", "oxysterol-binding protein-like protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114884 ; - skos:exactMatch HGNC_symbol:OSBPL10 ; + skos:exactMatch UMLS:C1424246, + HGNC:16395, + HGNC_symbol:OSBPL10 ; biolink:category biolink:Gene . OMIM:606739 a owl:Class ; @@ -226072,35 +234157,38 @@ OMIM:606739 a owl:Class ; IAO:0000142 PMID:11483621, PMID:11735225, PMID:28051070 ; - oboInOwl:hasDbXref UMLS:C1424248 ; oboInOwl:hasExactSynonym "OSBPL11", "osbp-related protein 11", "oxysterol-binding protein-like protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114885 ; - skos:exactMatch HGNC_symbol:OSBPL11 ; + skos:exactMatch UMLS:C1424248, + HGNC:16397, + HGNC_symbol:OSBPL11 ; biolink:category biolink:Gene . OMIM:606740 a owl:Class ; rdfs:label "ZNF180" ; IAO:0000142 PMID:8914611 ; - oboInOwl:hasDbXref UMLS:C1421669 ; oboInOwl:hasExactSynonym "ZNF180", "zinc finger protein 180" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7733 ; - skos:exactMatch HGNC_symbol:ZNF180 ; + skos:exactMatch UMLS:C1421669, + HGNC:12970, + HGNC_symbol:ZNF180 ; biolink:category biolink:Gene . OMIM:606741 a owl:Class ; rdfs:label "ZNF181" ; IAO:0000142 PMID:8914611 ; - oboInOwl:hasDbXref UMLS:C1421670 ; oboInOwl:hasExactSynonym "ZNF181", "zinc finger protein 181" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339318 ; - skos:exactMatch HGNC_symbol:ZNF181 ; + skos:exactMatch UMLS:C1421670, + HGNC:12971, + HGNC_symbol:ZNF181 ; biolink:category biolink:Gene . OMIM:606742 a owl:Class ; @@ -226111,13 +234199,14 @@ OMIM:606742 a owl:Class ; PMID:8661043 ; RO:0002525 CHR:9606chr4q32.3 ; RO:0003303 OMIM:613087 ; - oboInOwl:hasDbXref UMLS:C1420758 ; oboInOwl:hasExactSynonym "TLL1", "tll", "tolloid-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7092 ; - skos:exactMatch HGNC_symbol:TLL1 ; + skos:exactMatch UMLS:C1420758, + HGNC:11843, + HGNC_symbol:TLL1 ; biolink:category biolink:Gene . OMIM:606743 a owl:Class ; @@ -226125,13 +234214,14 @@ OMIM:606743 a owl:Class ; IAO:0000142 PMID:10231032, PMID:10479448, PMID:10516436 ; - oboInOwl:hasDbXref UMLS:C1420759 ; oboInOwl:hasExactSynonym "TLL2", "kiaa0932", "tolloid-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7093 ; - skos:exactMatch HGNC_symbol:TLL2 ; + skos:exactMatch UMLS:C1420759, + HGNC:11844, + HGNC_symbol:TLL2 ; biolink:category biolink:Gene . OMIM:606745 a owl:Class ; @@ -226149,7 +234239,6 @@ OMIM:606745 a owl:Class ; PMID:27122542, PMID:27925688, PMID:28096290 ; - oboInOwl:hasDbXref UMLS:C1423939 ; oboInOwl:hasExactSynonym "PARD3", "par3", "par3 family cell polarity regulator", @@ -226157,7 +234246,9 @@ OMIM:606745 a owl:Class ; "partitioning-defective protein 3, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56288 ; - skos:exactMatch HGNC_symbol:PARD3 ; + skos:exactMatch UMLS:C1423939, + HGNC:16051, + HGNC_symbol:PARD3 ; biolink:category biolink:Gene . OMIM:606746 a owl:Class ; @@ -226165,7 +234256,6 @@ OMIM:606746 a owl:Class ; IAO:0000142 PMID:11714798, PMID:15378209, PMID:17362502 ; - oboInOwl:hasDbXref UMLS:C1424658 ; oboInOwl:hasExactSynonym "MYDGF", "chromosome 19 open reading frame 10", "interleukin 25", @@ -226173,7 +234263,9 @@ OMIM:606746 a owl:Class ; "stroma-derived growth factor 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56005 ; - skos:exactMatch HGNC_symbol:MYDGF ; + skos:exactMatch UMLS:C1424658, + HGNC:16948, + HGNC_symbol:MYDGF ; biolink:category biolink:Gene . OMIM:606747 a owl:Class ; @@ -226181,13 +234273,14 @@ OMIM:606747 a owl:Class ; IAO:0000142 PMID:15882861, PMID:18676812, PMID:8035792 ; - oboInOwl:hasDbXref UMLS:C1823628 ; oboInOwl:hasExactSynonym "VEZF1", "vascular endothelial zinc finger 1", "zinc finger protein 161" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7716 ; - skos:exactMatch HGNC_symbol:VEZF1 ; + skos:exactMatch UMLS:C1823628, + HGNC:12949, + HGNC_symbol:VEZF1 ; biolink:category biolink:Gene . OMIM:606748 a owl:Class ; @@ -226198,27 +234291,29 @@ OMIM:606748 a owl:Class ; PMID:11785969, PMID:16924104, PMID:9326934 ; - oboInOwl:hasDbXref UMLS:C1425434 ; oboInOwl:hasExactSynonym "COTL1", "clp", "coactosin-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23406 ; - skos:exactMatch HGNC_symbol:COTL1 ; + skos:exactMatch UMLS:C1425434, + HGNC:18304, + HGNC_symbol:COTL1 ; biolink:category biolink:Gene . OMIM:606749 a owl:Class ; rdfs:label "TINAG" ; IAO:0000142 PMID:10652240, PMID:10752525 ; - oboInOwl:hasDbXref UMLS:C1422780 ; oboInOwl:hasExactSynonym "TINAG", "tin1", "tin2", "tubulointerstitial nephritis antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27283 ; - skos:exactMatch HGNC_symbol:TINAG ; + skos:exactMatch UMLS:C1422780, + HGNC:14599, + HGNC_symbol:TINAG ; biolink:category biolink:Gene . OMIM:606750 a owl:Class ; @@ -226229,7 +234324,6 @@ OMIM:606750 a owl:Class ; PMID:17618271, PMID:32296174, PMID:32296175 ; - oboInOwl:hasDbXref UMLS:C1424053 ; oboInOwl:hasExactSynonym "ZBP1", "chromosome 20 open reading frame 183", "dna-dependent activator of interferon regulatory factors", @@ -226237,39 +234331,43 @@ OMIM:606750 a owl:Class ; "z-dna binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81030 ; - skos:exactMatch HGNC_symbol:ZBP1 ; + skos:exactMatch UMLS:C1424053, + HGNC:16176, + HGNC_symbol:ZBP1 ; biolink:category biolink:Gene . OMIM:606751 a owl:Class ; rdfs:label "TMPRSS5" ; IAO:0000142 PMID:11741986, PMID:17918732 ; - oboInOwl:hasDbXref UMLS:C1423044 ; oboInOwl:hasExactSynonym "TMPRSS5", "spinal cord-enriched trypsin-like protease", "transmembrane protease, serine 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80975 ; - skos:exactMatch HGNC_symbol:TMPRSS5 ; + skos:exactMatch UMLS:C1423044, + HGNC:14908, + HGNC_symbol:TMPRSS5 ; biolink:category biolink:Gene . OMIM:606752 a owl:Class ; rdfs:label "acute hemorrhagic leukoencephalitis" ; IAO:0000142 PMID:11840490 ; - oboInOwl:hasDbXref UMLS:C0014077 ; oboInOwl:hasExactSynonym "acute hemorrhagic leukoencephalitis", - "ahl" . + "ahl" ; + skos:exactMatch UMLS:C0014077 . OMIM:606753 a owl:Class ; rdfs:label "TTC4" ; IAO:0000142 PMID:10828607, PMID:9933562 ; - oboInOwl:hasDbXref UMLS:C1421215 ; oboInOwl:hasExactSynonym "TTC4", "tetratricopeptide repeat domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7268 ; - skos:exactMatch HGNC_symbol:TTC4 ; + skos:exactMatch UMLS:C1421215, + HGNC:12394, + HGNC_symbol:TTC4 ; biolink:category biolink:Gene . OMIM:606754 a owl:Class ; @@ -226291,13 +234389,14 @@ OMIM:606754 a owl:Class ; PMID:29670289 ; RO:0002525 CHR:9606chr20q11.23 ; RO:0003303 OMIM:612952 ; - oboInOwl:hasDbXref UMLS:C1423837 ; oboInOwl:hasExactSynonym "SAMHD1", "dendritic cell-derived ifng-induced protein", "sam domain- and hd domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25939 ; - skos:exactMatch HGNC_symbol:SAMHD1 ; + skos:exactMatch UMLS:C1423837, + HGNC:15925, + HGNC_symbol:SAMHD1 ; biolink:category biolink:Gene . OMIM:606755 a owl:Class ; @@ -226310,13 +234409,14 @@ OMIM:606755 a owl:Class ; PMID:30763140 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:191480 ; - oboInOwl:hasDbXref UMLS:C1425457 ; oboInOwl:hasExactSynonym "PADI3", "pdi3", "peptidylarginine deiminase, iia 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51702 ; - skos:exactMatch HGNC_symbol:PADI3 ; + skos:exactMatch UMLS:C1425457, + HGNC:18337, + HGNC_symbol:PADI3 ; biolink:category biolink:Gene . OMIM:606756 a owl:Class ; @@ -226326,12 +234426,13 @@ OMIM:606756 a owl:Class ; PMID:12829805, PMID:18669642, PMID:20185768 ; - oboInOwl:hasDbXref UMLS:C1333927 ; oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase 7", "HSD17B7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51478 ; - skos:exactMatch HGNC_symbol:HSD17B7 ; + skos:exactMatch UMLS:C1333927, + HGNC:5215, + HGNC_symbol:HSD17B7 ; biolink:category biolink:Gene . OMIM:606757 a owl:Class ; @@ -226341,13 +234442,14 @@ OMIM:606757 a owl:Class ; PMID:11788353, PMID:12063394, PMID:21705333 ; - oboInOwl:hasDbXref UMLS:C1425358 ; oboInOwl:hasExactSynonym "SLC4A5", "sodium bicarbonate cotransporter 4", "solute carrier family 4 (sodium bicarbonate cotransporter), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57835 ; - skos:exactMatch HGNC_symbol:SLC4A5 ; + skos:exactMatch UMLS:C1425358, + HGNC:18168, + HGNC_symbol:SLC4A5 ; biolink:category biolink:Gene . OMIM:606758 a owl:Class ; @@ -226357,13 +234459,14 @@ OMIM:606758 a owl:Class ; PMID:11762710, PMID:16651268, PMID:19494811 ; - oboInOwl:hasDbXref UMLS:C1414179 ; oboInOwl:hasExactSynonym "DUOX1", "dual oxidase 1", "thyroid oxidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53905 ; - skos:exactMatch HGNC_symbol:DUOX1 ; + skos:exactMatch UMLS:C1414179, + HGNC:3062, + HGNC_symbol:DUOX1 ; biolink:category biolink:Gene . OMIM:606759 a owl:Class ; @@ -226378,13 +234481,14 @@ OMIM:606759 a owl:Class ; PMID:19494811 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:607200 ; - oboInOwl:hasDbXref UMLS:C1421916 ; oboInOwl:hasExactSynonym "DUOX2", "dual oxidase 2", "thyroid oxidase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50506 ; - skos:exactMatch HGNC_symbol:DUOX2 ; + skos:exactMatch UMLS:C1421916, + HGNC:13273, + HGNC_symbol:DUOX2 ; biolink:category biolink:Gene . OMIM:606760 a owl:Class ; @@ -226405,14 +234509,15 @@ OMIM:606761 a owl:Class ; PMID:9869665 ; RO:0002525 CHR:9606chr16q23.3 ; RO:0003303 OMIM:248360 ; - oboInOwl:hasDbXref UMLS:C0342793, - UMLS:C1417196 ; oboInOwl:hasExactSynonym "MLYCD", "malonyl-coa decarboxylase", "mcd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23417 ; - skos:exactMatch HGNC_symbol:MLYCD ; + skos:exactMatch UMLS:C0342793, + UMLS:C1417196, + HGNC:7150, + HGNC_symbol:MLYCD ; biolink:category biolink:Gene . OMIM:606765 a owl:Class ; @@ -226438,27 +234543,29 @@ OMIM:606765 a owl:Class ; PMID:9814507 ; RO:0002525 CHR:9606chr2p25.3 ; RO:0003303 OMIM:274500 ; - oboInOwl:hasDbXref UMLS:C1364508 ; oboInOwl:hasExactSynonym "TPO", "thyroid peroxidase", "thyroperoxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7173 ; - skos:exactMatch HGNC_symbol:TPO ; + skos:exactMatch UMLS:C1364508, + HGNC:12015, + HGNC_symbol:TPO ; biolink:category biolink:Gene . OMIM:606767 a owl:Class ; rdfs:label "KCNG3" ; IAO:0000142 PMID:11852086, PMID:12060745 ; - oboInOwl:hasDbXref UMLS:C1425436 ; oboInOwl:hasExactSynonym "KCNG3", "kv10.1", "kv6.3", "potassium channel, voltage-gated, subfamily g, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170850 ; - skos:exactMatch HGNC_symbol:KCNG3 ; + skos:exactMatch UMLS:C1425436, + HGNC:18306, + HGNC_symbol:KCNG3 ; biolink:category biolink:Gene . OMIM:606769 a owl:Class ; @@ -226466,23 +234573,24 @@ OMIM:606769 a owl:Class ; IAO:0000142 PMID:11751861, PMID:12794064, PMID:24005329 ; - oboInOwl:hasDbXref UMLS:C1847531 ; oboInOwl:hasExactSynonym "HELQ", "hel308", "helicase, polq-like", "polq-like helicase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113510 ; - skos:exactMatch HGNC_symbol:HELQ ; + skos:exactMatch UMLS:C1847531, + HGNC:18536, + HGNC_symbol:HELQ ; biolink:category biolink:Gene . OMIM:606772 a owl:Class ; rdfs:label "mental retardation, obesity, mandibular prognathism, and eye and skin anomalies" ; IAO:0000142 PMID:11746007, PMID:19288561 ; - oboInOwl:hasDbXref UMLS:C1847522 ; oboInOwl:hasExactSynonym "mental retardation, obesity, mandibular prognathism, and eye and skin anomalies", "momes syndrome" ; + skos:exactMatch UMLS:C1847522 ; biolink:category biolink:Disease . OMIM:606773 a owl:Class ; @@ -226490,15 +234598,14 @@ OMIM:606773 a owl:Class ; IAO:0000142 PMID:11746014, PMID:20583183, PMID:9600442 ; - oboInOwl:hasDbXref UMLS:C1847521 ; oboInOwl:hasExactSynonym "HMH", - "hemifacial myohyperplasia" . + "hemifacial myohyperplasia" ; + skos:exactMatch UMLS:C1847521 . OMIM:606774 a owl:Class ; rdfs:label "MIOX" ; IAO:0000142 PMID:10944187, PMID:11716759 ; - oboInOwl:hasDbXref UMLS:C1825995 ; oboInOwl:hasExactSynonym "MIOX", "aldehyde reductase-like 6", "aldose reductase-like 6", @@ -226506,31 +234613,35 @@ OMIM:606774 a owl:Class ; "myoinositol oxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55586 ; - skos:exactMatch HGNC_symbol:MIOX ; + skos:exactMatch UMLS:C1825995, + HGNC:14522, + HGNC_symbol:MIOX ; biolink:category biolink:Gene . OMIM:606775 a owl:Class ; rdfs:label "CSPG5" ; IAO:0000142 PMID:9950058 ; - oboInOwl:hasDbXref UMLS:C1413765 ; oboInOwl:hasExactSynonym "CSPG5", "chondroitin sulfate proteoglycan 5", "neuroglycan c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10675 ; - skos:exactMatch HGNC_symbol:CSPG5 ; + skos:exactMatch UMLS:C1413765, + HGNC:2467, + HGNC_symbol:CSPG5 ; biolink:category biolink:Gene . OMIM:606776 a owl:Class ; rdfs:label "TGM7" ; IAO:0000142 PMID:11390390 ; - oboInOwl:hasDbXref UMLS:C1539957 ; oboInOwl:hasExactSynonym "TGM7", "transglutaminase 7", "transglutaminase z" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116179 ; - skos:exactMatch HGNC_symbol:TGM7 ; + skos:exactMatch UMLS:C1539957, + HGNC:30790, + HGNC_symbol:TGM7 ; biolink:category biolink:Gene . OMIM:606777 a owl:Class ; @@ -226556,51 +234667,54 @@ OMIM:606777 a owl:Class ; PMID:22190371, PMID:26193382, PMID:9462754 ; - oboInOwl:hasDbXref UMLS:C3149117, - UMLS:C4551966 ; oboInOwl:hasExactSynonym "GLUT1DS1", "glucose transport defect, blood-brain barrier", "glut1 deficiency syndrome 1", "glut1 deficiency syndrome 1, autosomal recessive" ; rdfs:subClassOf OMIMPS:606777 ; + skos:exactMatch UMLS:C3149117, + UMLS:C4551966 ; biolink:category biolink:Disease . OMIM:606778 a owl:Class ; rdfs:label "SSH1" ; IAO:0000142 PMID:11832213 ; - oboInOwl:hasDbXref UMLS:C1539855 ; oboInOwl:hasExactSynonym "SSH1", "kiaa1298", "slingshot protein phosphatase 1", "slingshot, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54434 ; - skos:exactMatch HGNC_symbol:SSH1 ; + skos:exactMatch UMLS:C1539855, + HGNC:30579, + HGNC_symbol:SSH1 ; biolink:category biolink:Gene . OMIM:606779 a owl:Class ; rdfs:label "SSH2" ; IAO:0000142 PMID:11832213 ; - oboInOwl:hasDbXref UMLS:C1539856 ; oboInOwl:hasExactSynonym "SSH2", "kiaa1725", "slingshot protein phosphatase 2", "slingshot, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85464 ; - skos:exactMatch HGNC_symbol:SSH2 ; + skos:exactMatch UMLS:C1539856, + HGNC:30580, + HGNC_symbol:SSH2 ; biolink:category biolink:Gene . OMIM:606780 a owl:Class ; rdfs:label "SSH3" ; IAO:0000142 PMID:11832213 ; - oboInOwl:hasDbXref UMLS:C1539857 ; oboInOwl:hasExactSynonym "SSH3", "slingshot protein phosphatase 3", "slingshot, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54961 ; - skos:exactMatch HGNC_symbol:SSH3 ; + skos:exactMatch UMLS:C1539857, + HGNC:30581, + HGNC_symbol:SSH3 ; biolink:category biolink:Gene . OMIM:606781 a owl:Class ; @@ -226613,13 +234727,14 @@ OMIM:606781 a owl:Class ; PMID:8838793 ; RO:0002525 CHR:9606chr3p21.1 ; RO:0003303 OMIM:617044 ; - oboInOwl:hasDbXref UMLS:C1420750 ; oboInOwl:hasExactSynonym "TKT", "tkt1", "transketolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7086 ; - skos:exactMatch HGNC_symbol:TKT ; + skos:exactMatch UMLS:C1420750, + HGNC:11834, + HGNC_symbol:TKT ; biolink:category biolink:Gene . OMIM:606782 a owl:Class ; @@ -226629,14 +234744,15 @@ OMIM:606782 a owl:Class ; PMID:29489751 ; RO:0002525 CHR:9606chr12p13.2 ; RO:0003303 OMIM:614079 ; - oboInOwl:hasDbXref UMLS:C1539085 ; oboInOwl:hasExactSynonym "CLEC1A", "c-type lectin domain family 1, member a", "c-type lectin-like receptor 1", "melanin-sensing c-type lectin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51267 ; - skos:exactMatch HGNC_symbol:CLEC1A ; + skos:exactMatch UMLS:C1539085, + HGNC:24355, + HGNC_symbol:CLEC1A ; biolink:category biolink:Gene . OMIM:606783 a owl:Class ; @@ -226645,13 +234761,14 @@ OMIM:606783 a owl:Class ; PMID:20525685, PMID:23995678, PMID:25341788 ; - oboInOwl:hasDbXref UMLS:C1539086 ; oboInOwl:hasExactSynonym "CLEC1B", "c-type lectin domain family 1, member B", "c-type lectin-like receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51266 ; - skos:exactMatch HGNC_symbol:CLEC1B ; + skos:exactMatch UMLS:C1539086, + HGNC:24356, + HGNC_symbol:CLEC1B ; biolink:category biolink:Gene . OMIM:606784 a owl:Class ; @@ -226675,12 +234792,13 @@ OMIM:606784 a owl:Class ; PMID:8382613, PMID:9267989, PMID:9635432 ; - oboInOwl:hasDbXref UMLS:C1415320 ; oboInOwl:hasExactSynonym "GSK3A", "glycogen synthase kinase 3-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2931 ; - skos:exactMatch HGNC_symbol:GSK3A ; + skos:exactMatch UMLS:C1415320, + HGNC:4616, + HGNC_symbol:GSK3A ; biolink:category biolink:Gene . OMIM:606785 a owl:Class ; @@ -226697,10 +234815,10 @@ OMIM:606785 a owl:Class ; PMID:805737, PMID:8276413, PMID:9621515 ; - oboInOwl:hasDbXref UMLS:C2931132 ; oboInOwl:hasExactSynonym "crigler-najjar syndrome, iia 2", "hyperbilirubinemia, crigler-najjar iia 2" ; rdfs:subClassOf OMIMPS:237450 ; + skos:exactMatch UMLS:C2931132 ; biolink:category biolink:Disease . OMIM:606786 a owl:Class ; @@ -226708,7 +234826,6 @@ OMIM:606786 a owl:Class ; IAO:0000142 PMID:11556966, PMID:1349532, PMID:8509141 ; - oboInOwl:hasDbXref UMLS:C1540295 ; oboInOwl:hasExactSynonym "CD300C", "cd300c antigen", "cmrf35 antigen", @@ -226716,7 +234833,9 @@ OMIM:606786 a owl:Class ; "cmrf35a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10871 ; - skos:exactMatch HGNC_symbol:CD300C ; + skos:exactMatch UMLS:C1540295, + HGNC:19320, + HGNC_symbol:CD300C ; biolink:category biolink:Gene . OMIM:606790 a owl:Class ; @@ -226724,7 +234843,6 @@ OMIM:606790 a owl:Class ; IAO:0000142 PMID:10746781, PMID:16339535, PMID:9701027 ; - oboInOwl:hasDbXref UMLS:C1540294 ; oboInOwl:hasExactSynonym "CD300A", "cd300a antigen", "cmrf35h antigen", @@ -226732,7 +234850,9 @@ OMIM:606790 a owl:Class ; "irp60" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11314 ; - skos:exactMatch HGNC_symbol:CD300A ; + skos:exactMatch UMLS:C1540294, + HGNC:19319, + HGNC_symbol:CD300A ; biolink:category biolink:Gene . OMIM:606791 a owl:Class ; @@ -226741,7 +234861,6 @@ OMIM:606791 a owl:Class ; PMID:14659893, PMID:22896666, PMID:31776261 ; - oboInOwl:hasDbXref UMLS:C1540044 ; oboInOwl:hasExactSynonym "TPTE2", "tpip-alpha", "tpip-beta", @@ -226750,7 +234869,9 @@ OMIM:606791 a owl:Class ; "voltage-sensitive phosphatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93492 ; - skos:exactMatch HGNC_symbol:TPTE2 ; + skos:exactMatch UMLS:C1540044, + HGNC:17299, + HGNC_symbol:TPTE2 ; biolink:category biolink:Gene . OMIM:606792 a owl:Class ; @@ -226763,13 +234884,14 @@ OMIM:606792 a owl:Class ; PMID:11181941, PMID:11394877, PMID:11561071 ; - oboInOwl:hasDbXref UMLS:C1424950 ; oboInOwl:hasExactSynonym "HRH4", "hh4r", "histamine receptor h4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59340 ; - skos:exactMatch HGNC_symbol:HRH4 ; + skos:exactMatch UMLS:C1424950, + HGNC:17383, + HGNC_symbol:HRH4 ; biolink:category biolink:Gene . OMIM:606793 a owl:Class ; @@ -226783,14 +234905,15 @@ OMIM:606793 a owl:Class ; PMID:21030649, PMID:8198608, PMID:9048733 ; - oboInOwl:hasDbXref UMLS:C1417779 ; oboInOwl:hasExactSynonym "NPEPPS", "aminopeptidase, puromycin-sensitive", "metalloprotease mp100", "psa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9520 ; - skos:exactMatch HGNC_symbol:NPEPPS ; + skos:exactMatch UMLS:C1417779, + HGNC:7900, + HGNC_symbol:NPEPPS ; biolink:category biolink:Gene . OMIM:606794 a owl:Class ; @@ -226801,26 +234924,28 @@ OMIM:606794 a owl:Class ; PMID:29211846 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:618972 ; - oboInOwl:hasDbXref UMLS:C1420151, - UMLS:C5436514 ; oboInOwl:hasExactSynonym "SLC25A10", "dicarboxylate ion carrier", "solute carrier family 25 (mitochondrial carrier), member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1468 ; - skos:exactMatch HGNC_symbol:SLC25A10 ; + skos:exactMatch UMLS:C1420151, + UMLS:C5436514, + HGNC:10980, + HGNC_symbol:SLC25A10 ; biolink:category biolink:Gene . OMIM:606795 a owl:Class ; rdfs:label "SLC25A17" ; IAO:0000142 PMID:9874197 ; - oboInOwl:hasDbXref UMLS:C1420158 ; oboInOwl:hasExactSynonym "SLC25A17", "peroxisomal membrane protein, 34-kd", "solute carrier family 25 (mitochondrial carrier), member 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10478 ; - skos:exactMatch HGNC_symbol:SLC25A17 ; + skos:exactMatch UMLS:C1420158, + HGNC:10987, + HGNC_symbol:SLC25A17 ; biolink:category biolink:Gene . OMIM:606796 a owl:Class ; @@ -226831,14 +234956,15 @@ OMIM:606796 a owl:Class ; PMID:8721986, PMID:9292708, PMID:9925927 ; - oboInOwl:hasDbXref UMLS:C1337104 ; oboInOwl:hasExactSynonym "ST13", "hsc70-interacting protein", "p48", "suppression of tumorigenicity 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6767 ; - skos:exactMatch HGNC_symbol:ST13 ; + skos:exactMatch UMLS:C1337104, + HGNC:11343, + HGNC_symbol:ST13 ; biolink:category biolink:Gene . OMIM:606797 a owl:Class ; @@ -226862,7 +234988,6 @@ OMIM:606797 a owl:Class ; PMID:9925927 ; RO:0002525 CHR:9606chr11q24.3 ; RO:0003303 OMIM:602400 ; - oboInOwl:hasDbXref UMLS:C1366520 ; oboInOwl:hasExactSynonym "ST14", "epithin", "matriptase", @@ -226871,7 +234996,9 @@ OMIM:606797 a owl:Class ; "suppression of tumorigenicity 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6768 ; - skos:exactMatch HGNC_symbol:ST14 ; + skos:exactMatch UMLS:C1366520, + HGNC:11344, + HGNC_symbol:ST14 ; biolink:category biolink:Gene . OMIM:606799 a owl:Class ; @@ -226880,9 +235007,9 @@ OMIM:606799 a owl:Class ; PMID:14517540, PMID:17006457 ; RO:0002525 CHR:9606chr5q12 ; - oboInOwl:hasDbXref UMLS:C1847482 ; oboInOwl:hasExactSynonym "strk1", "stroke, susceptibility to, 1" ; + skos:exactMatch UMLS:C1847482 ; biolink:category biolink:Disease . OMIM:606800 a owl:Class ; @@ -226938,7 +235065,6 @@ OMIM:606800 a owl:Class ; PMID:9738873 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:232300 ; - oboInOwl:hasDbXref UMLS:C1414899 ; oboInOwl:hasExactSynonym "GAA", "acid alpha-glucosidase", "acid maltase", @@ -226947,13 +235073,14 @@ OMIM:606800 a owl:Class ; "glucosidase, alpha, acid" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2548 ; - skos:exactMatch HGNC_symbol:GAA ; + skos:exactMatch UMLS:C1414899, + HGNC:4065, + HGNC_symbol:GAA ; biolink:category biolink:Gene . OMIM:606801 a owl:Class ; rdfs:label "MAEA" ; IAO:0000142 PMID:9763581 ; - oboInOwl:hasDbXref UMLS:C1422169 ; oboInOwl:hasExactSynonym "MAEA", "erythroblast macrophage protein", "gid complex, subunit 9", @@ -226961,27 +235088,28 @@ OMIM:606801 a owl:Class ; "macrophage erythroblast attacher" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10296 ; - skos:exactMatch HGNC_symbol:MAEA ; + skos:exactMatch UMLS:C1422169, + HGNC:13731, + HGNC_symbol:MAEA ; biolink:category biolink:Gene . OMIM:606802 a owl:Class ; rdfs:label "SPIB" ; IAO:0000142 PMID:1406622, PMID:8670269 ; - oboInOwl:hasDbXref UMLS:C1420358 ; oboInOwl:hasExactSynonym "SPIB", "spib transcription factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6689 ; - skos:exactMatch HGNC_symbol:SPIB ; + skos:exactMatch UMLS:C1420358, + HGNC:11242, + HGNC_symbol:SPIB ; biolink:category biolink:Gene . OMIM:606803 a owl:Class ; rdfs:label "ACOT11" ; IAO:0000142 PMID:11696000, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1825834, - UMLS:C1847464 ; oboInOwl:hasExactSynonym "ACOT11", "acyl-coa thioesterase 11", "bfit1", @@ -226991,34 +235119,39 @@ OMIM:606803 a owl:Class ; "thioesterase, adipose-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26027 ; - skos:exactMatch HGNC_symbol:ACOT11 ; + skos:exactMatch UMLS:C1825834, + UMLS:C1847464, + HGNC:18156, + HGNC_symbol:ACOT11 ; biolink:category biolink:Gene . OMIM:606804 a owl:Class ; rdfs:label "GOLM1" ; IAO:0000142 PMID:10831838 ; - oboInOwl:hasDbXref UMLS:C1423497 ; oboInOwl:hasExactSynonym "GOLM1", "golgi membrane protein 1", "golgi phosphoprotein 2", "golgi protein, 73-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51280 ; - skos:exactMatch HGNC_symbol:GOLM1 ; + skos:exactMatch UMLS:C1423497, + HGNC:15451, + HGNC_symbol:GOLM1 ; biolink:category biolink:Gene . OMIM:606805 a owl:Class ; rdfs:label "GOLIM4" ; IAO:0000142 PMID:21187401, PMID:9201717 ; - oboInOwl:hasDbXref UMLS:C1423494 ; oboInOwl:hasExactSynonym "GOLIM4", "golgi integral membrane protein 4", "golgi phosphoprotein 4", "golgi phosphoprotein, 130-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27333 ; - skos:exactMatch HGNC_symbol:GOLIM4 ; + skos:exactMatch UMLS:C1423494, + HGNC:15448, + HGNC_symbol:GOLIM4 ; biolink:category biolink:Gene . OMIM:606806 a owl:Class ; @@ -227030,13 +235163,14 @@ OMIM:606806 a owl:Class ; PMID:29995852 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:229100 ; - oboInOwl:hasDbXref UMLS:C0268609, - UMLS:C1414832 ; oboInOwl:hasExactSynonym "FTCD", "formiminotransferase cyclodeaminase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10841 ; - skos:exactMatch HGNC_symbol:FTCD ; + skos:exactMatch UMLS:C0268609, + UMLS:C1414832, + HGNC:3974, + HGNC_symbol:FTCD ; biolink:category biolink:Gene . OMIM:606807 a owl:Class ; @@ -227049,13 +235183,14 @@ OMIM:606807 a owl:Class ; PMID:23643382 ; RO:0002525 CHR:9606chr3p14.3 ; RO:0003303 OMIM:615267 ; - oboInOwl:hasDbXref UMLS:C1425013 ; oboInOwl:hasExactSynonym "IL17RD", "interleukin 17 receptor d", "sef, zebrafish, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54756 ; - skos:exactMatch HGNC_symbol:IL17RD ; + skos:exactMatch UMLS:C1425013, + HGNC:17616, + HGNC_symbol:IL17RD ; biolink:category biolink:Gene . OMIM:606808 a owl:Class ; @@ -227066,19 +235201,19 @@ OMIM:606808 a owl:Class ; PMID:25822849 ; RO:0002525 CHR:9606chr10p12.1 ; RO:0003303 OMIM:607101 ; - oboInOwl:hasDbXref UMLS:C1417564 ; oboInOwl:hasExactSynonym "MYO3A", "myosin 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53904 ; - skos:exactMatch HGNC_symbol:MYO3A ; + skos:exactMatch UMLS:C1417564, + HGNC:7601, + HGNC_symbol:MYO3A ; biolink:category biolink:Gene . OMIM:606809 a owl:Class ; rdfs:label "ACBD3" ; IAO:0000142 PMID:11590181, PMID:23572552 ; - oboInOwl:hasDbXref UMLS:C1423499 ; oboInOwl:hasExactSynonym "ACBD3", "acyl-coa-binding domain-containing protein 3", "golgi complex-associated protein 1", @@ -227086,7 +235221,9 @@ OMIM:606809 a owl:Class ; "golgi phosphoprotein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64746 ; - skos:exactMatch HGNC_symbol:ACBD3 ; + skos:exactMatch UMLS:C1423499, + HGNC:15453, + HGNC_symbol:ACBD3 ; biolink:category biolink:Gene . OMIM:606810 a owl:Class ; @@ -227104,14 +235241,15 @@ OMIM:606810 a owl:Class ; PMID:9385373 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:600850 ; - oboInOwl:hasDbXref UMLS:C1418945 ; oboInOwl:hasExactSynonym "PRODH", "prodh1", "proline dehydrogenase 1", "proline oxidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5625 ; - skos:exactMatch HGNC_symbol:PRODH ; + skos:exactMatch UMLS:C1418945, + HGNC:9453, + HGNC_symbol:PRODH ; biolink:category biolink:Gene . OMIM:606811 a owl:Class ; @@ -227122,14 +235260,15 @@ OMIM:606811 a owl:Class ; PMID:9700195 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:239510 ; - oboInOwl:hasDbXref UMLS:C1412337 ; oboInOwl:hasExactSynonym "ALDH4A1", "aldehyde dehydrogenase 4", "aldehyde dehydrogenase, family 4, subfamily a, member 1", "pyrroline-5-carboxylate dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8659 ; - skos:exactMatch HGNC_symbol:ALDH4A1 ; + skos:exactMatch UMLS:C1412337, + HGNC:406, + HGNC_symbol:ALDH4A1 ; biolink:category biolink:Gene . OMIM:606812 a owl:Class ; @@ -227143,48 +235282,51 @@ OMIM:606812 a owl:Class ; PMID:3807970, PMID:6616883, PMID:8200987 ; - oboInOwl:hasDbXref UMLS:C0342770, - UMLS:C2936826, - ORPHA:24 ; oboInOwl:hasExactSynonym "FMRD", "fumarase deficiency", "fumaric aciduria" ; + skos:exactMatch UMLS:C0342770, + UMLS:C2936826, + ORPHA:24 ; biolink:category biolink:Disease . OMIM:606813 a owl:Class ; rdfs:label "SLC2A6" ; IAO:0000142 PMID:10970791 ; - oboInOwl:hasDbXref UMLS:C1420177 ; oboInOwl:hasExactSynonym "SLC2A6", "solute carrier family 2i (facilitated glucose transporter), member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11182 ; - skos:exactMatch HGNC_symbol:SLC2A6 ; + skos:exactMatch UMLS:C1420177, + HGNC:11011, + HGNC_symbol:SLC2A6 ; biolink:category biolink:Gene . OMIM:606814 a owl:Class ; rdfs:label "PRG3" ; IAO:0000142 PMID:10318872, PMID:11170744 ; - oboInOwl:hasDbXref UMLS:C1418890 ; oboInOwl:hasExactSynonym "PRG3", "prepro-major basic protein homolog", "proteoglycan 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10394 ; - skos:exactMatch HGNC_symbol:PRG3 ; + skos:exactMatch UMLS:C1418890, + HGNC:9363, + HGNC_symbol:PRG3 ; biolink:category biolink:Gene . OMIM:606815 a owl:Class ; rdfs:label "CITED4" ; IAO:0000142 PMID:11744733 ; - oboInOwl:hasDbXref UMLS:C1425716 ; oboInOwl:hasExactSynonym "CITED4", "cbp/p300-interacting transactivator, with glu/asp-rich carboxy terminal domain, 4", "transcriptional coactivator 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163732 ; - skos:exactMatch HGNC_symbol:CITED4 ; + skos:exactMatch UMLS:C1425716, + HGNC:18696, + HGNC_symbol:CITED4 ; biolink:category biolink:Gene . OMIM:606816 a owl:Class ; @@ -227194,13 +235336,14 @@ OMIM:606816 a owl:Class ; PMID:15850781, PMID:22174421, PMID:31061008 ; - oboInOwl:hasDbXref UMLS:C1333565 ; oboInOwl:hasExactSynonym "SIDT1", "sid1 transmembrane family, member 1", "sid1, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54847 ; - skos:exactMatch HGNC_symbol:SIDT1 ; + skos:exactMatch UMLS:C1333565, + HGNC:25967, + HGNC_symbol:SIDT1 ; biolink:category biolink:Gene . OMIM:606817 a owl:Class ; @@ -227208,13 +235351,14 @@ OMIM:606817 a owl:Class ; IAO:0000142 PMID:11927911, PMID:8618853, PMID:9842925 ; - oboInOwl:hasDbXref UMLS:C1427472 ; oboInOwl:hasExactSynonym "PTCRA", "pre-t-cell receptor, alpha-chain precursor", "pt-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171558 ; - skos:exactMatch HGNC_symbol:PTCRA ; + skos:exactMatch UMLS:C1427472, + HGNC:21290, + HGNC_symbol:PTCRA ; biolink:category biolink:Gene . OMIM:606818 a owl:Class ; @@ -227222,12 +235366,13 @@ OMIM:606818 a owl:Class ; IAO:0000142 PMID:10387075, PMID:10773679, PMID:11209758 ; - oboInOwl:hasDbXref UMLS:C1414140 ; oboInOwl:hasExactSynonym "DPP3", "dipeptidyl peptidase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10072 ; - skos:exactMatch HGNC_symbol:DPP3 ; + skos:exactMatch UMLS:C1414140, + HGNC:3008, + HGNC_symbol:DPP3 ; biolink:category biolink:Gene . OMIM:606819 a owl:Class ; @@ -227235,25 +235380,27 @@ OMIM:606819 a owl:Class ; IAO:0000142 PMID:11012666, PMID:12459266, PMID:12662155 ; - oboInOwl:hasDbXref UMLS:C1424322 ; oboInOwl:hasExactSynonym "DPP8", "dipeptidyl peptidase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54878 ; - skos:exactMatch HGNC_symbol:DPP8 ; + skos:exactMatch UMLS:C1424322, + HGNC:16490, + HGNC_symbol:DPP8 ; biolink:category biolink:Gene . OMIM:606820 a owl:Class ; rdfs:label "GLRX2" ; IAO:0000142 PMID:11297543, PMID:11397793 ; - oboInOwl:hasDbXref UMLS:C1423949 ; oboInOwl:hasExactSynonym "GLRX2", "glutaredoxin 2", "grx2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51022 ; - skos:exactMatch HGNC_symbol:GLRX2 ; + skos:exactMatch UMLS:C1423949, + HGNC:16065, + HGNC_symbol:GLRX2 ; biolink:category biolink:Gene . OMIM:606821 a owl:Class ; @@ -227267,15 +235414,16 @@ OMIM:606821 a owl:Class ; PMID:9792665 ; RO:0002525 CHR:9606chr7q22.3 ; RO:0003303 OMIM:613612 ; - oboInOwl:hasDbXref UMLS:C1423002, - UMLS:C3150876 ; oboInOwl:hasExactSynonym "COG5", "component of oligomeric golgi complex 5", "golgi transport complex 1", "golgi transport complex, 90-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10466 ; - skos:exactMatch HGNC_symbol:COG5 ; + skos:exactMatch UMLS:C1423002, + UMLS:C3150876, + HGNC:14857, + HGNC_symbol:COG5 ; biolink:category biolink:Gene . OMIM:606822 a owl:Class ; @@ -227302,16 +235450,17 @@ OMIM:606822 a owl:Class ; PMID:27391550 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:617123 ; - oboInOwl:hasDbXref UMLS:C1826644, - UMLS:C3150412, - UMLS:C3150417, - UMLS:C3151519, - UMLS:C4310704 ; oboInOwl:hasExactSynonym "POMGNT1", "protein o-mannose beta-1,2-n-acetylglucosaminyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55624 ; - skos:exactMatch HGNC_symbol:POMGNT1 ; + skos:exactMatch UMLS:C1826644, + UMLS:C3150412, + UMLS:C3150417, + UMLS:C3151519, + UMLS:C4310704, + HGNC:19139, + HGNC_symbol:POMGNT1 ; biolink:category biolink:Gene . OMIM:606823 a owl:Class ; @@ -227321,7 +235470,6 @@ OMIM:606823 a owl:Class ; PMID:11559528, PMID:12565841, PMID:21071672 ; - oboInOwl:hasDbXref UMLS:C1425130 ; oboInOwl:hasExactSynonym "ADGRA2", "adhesion g protein-coupled receptor a2", "g protein-coupled receptor 124", @@ -227329,7 +235477,9 @@ OMIM:606823 a owl:Class ; "tumor endothelial marker 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25960 ; - skos:exactMatch HGNC_symbol:ADGRA2 ; + skos:exactMatch UMLS:C1425130, + HGNC:17849, + HGNC_symbol:ADGRA2 ; biolink:category biolink:Gene . OMIM:606825 a owl:Class ; @@ -227339,51 +235489,55 @@ OMIM:606825 a owl:Class ; PMID:15140944, PMID:16461921, PMID:17643115 ; - oboInOwl:hasDbXref UMLS:C1823461 ; oboInOwl:hasExactSynonym "TNS3", "tensin 3", "tumor endothelial marker 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64759 ; - skos:exactMatch HGNC_symbol:TNS3 ; + skos:exactMatch UMLS:C1823461, + HGNC:21616, + HGNC_symbol:TNS3 ; biolink:category biolink:Gene . OMIM:606826 a owl:Class ; rdfs:label "PLXDC1" ; IAO:0000142 PMID:10947988, PMID:11559528 ; - oboInOwl:hasDbXref UMLS:C1427201 ; oboInOwl:hasExactSynonym "PLXDC1", "plexin domain-containing protein 1", "tumor endothelial marker 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57125 ; - skos:exactMatch HGNC_symbol:PLXDC1 ; + skos:exactMatch UMLS:C1427201, + HGNC:20945, + HGNC_symbol:PLXDC1 ; biolink:category biolink:Gene . OMIM:606827 a owl:Class ; rdfs:label "PLXDC2" ; IAO:0000142 PMID:10947988, PMID:11559528 ; - oboInOwl:hasDbXref UMLS:C1427241 ; oboInOwl:hasExactSynonym "PLXDC2", "plexin domain-containing protein 2", "tumor endothelial marker 7-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84898 ; - skos:exactMatch HGNC_symbol:PLXDC2 ; + skos:exactMatch UMLS:C1427241, + HGNC:21013, + HGNC_symbol:PLXDC2 ; biolink:category biolink:Gene . OMIM:606828 a owl:Class ; rdfs:label "NAGK" ; IAO:0000142 PMID:10824116 ; - oboInOwl:hasDbXref UMLS:C1424796 ; oboInOwl:hasExactSynonym "NAGK", "glcnac kinase", "n-acetylglucosamine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55577 ; - skos:exactMatch HGNC_symbol:NAGK ; + skos:exactMatch UMLS:C1424796, + HGNC:17174, + HGNC_symbol:NAGK ; biolink:category biolink:Gene . OMIM:606829 a owl:Class ; @@ -227466,14 +235620,15 @@ OMIM:606829 a owl:Class ; PMID:9989622 ; RO:0002525 CHR:9606chr9q21.11 ; RO:0003303 OMIM:229300 ; - oboInOwl:hasDbXref UMLS:C1414812 ; oboInOwl:hasExactSynonym "FXN", "frataxin", "frda gene", "x25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2395 ; - skos:exactMatch HGNC_symbol:FXN ; + skos:exactMatch UMLS:C1414812, + HGNC:3951, + HGNC_symbol:FXN ; biolink:category biolink:Gene . OMIM:606830 a owl:Class ; @@ -227487,7 +235642,6 @@ OMIM:606830 a owl:Class ; PMID:30420557 ; RO:0002525 CHR:9606chr9q21.33 ; RO:0003303 OMIM:618276 ; - oboInOwl:hasDbXref UMLS:C1424854 ; oboInOwl:hasExactSynonym "AGTPBP1", "atp/gtp-binding protein 1", "cytosolic carboxypeptidase 1", @@ -227495,7 +235649,9 @@ OMIM:606830 a owl:Class ; "nervous system nuclear protein induced by axotomy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23287 ; - skos:exactMatch HGNC_symbol:AGTPBP1 ; + skos:exactMatch UMLS:C1424854, + HGNC:17258, + HGNC_symbol:AGTPBP1 ; biolink:category biolink:Gene . OMIM:606831 a owl:Class ; @@ -227522,7 +235678,6 @@ OMIM:606831 a owl:Class ; PMID:29576451 ; RO:0002525 CHR:9606chr2p22.3 ; RO:0003303 OMIM:616050 ; - oboInOwl:hasDbXref UMLS:C1826433 ; oboInOwl:hasExactSynonym "NLRC4", "card, lrr, and nacht domain-containing protein", "caspase recruitment domain-containing protein 12", @@ -227532,7 +235687,9 @@ OMIM:606831 a owl:Class ; "nlr family, caspase recruitment domain-containing 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58484 ; - skos:exactMatch HGNC_symbol:NLRC4 ; + skos:exactMatch UMLS:C1826433, + HGNC:16412, + HGNC_symbol:NLRC4 ; biolink:category biolink:Gene . OMIM:606832 a owl:Class ; @@ -227550,7 +235707,6 @@ OMIM:606832 a owl:Class ; PMID:16286653, PMID:16754858, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1847414 ; oboInOwl:hasExactSynonym "ERAP1", "adipocyte-derived leucine aminopeptidase", "aminopeptidase regulator of tnfr1 shedding 1", @@ -227560,7 +235716,9 @@ OMIM:606832 a owl:Class ; "puromycin-insensitive leucyl-specific aminopeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51752 ; - skos:exactMatch HGNC_symbol:ERAP1 ; + skos:exactMatch UMLS:C1847414, + HGNC:18173, + HGNC_symbol:ERAP1 ; biolink:category biolink:Gene . OMIM:606833 a owl:Class ; @@ -227574,14 +235732,15 @@ OMIM:606833 a owl:Class ; PMID:29276005 ; RO:0002525 CHR:9606chr7q36.1 ; RO:0003303 OMIM:617768 ; - oboInOwl:hasDbXref UMLS:C1422165 ; oboInOwl:hasExactSynonym "KMT2C", "kiaa1506", "lysine-specific methyltransferase 2c", "myeloid/lymphoid or mixed-lineage leukemia 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58508 ; - skos:exactMatch HGNC_symbol:KMT2C ; + skos:exactMatch UMLS:C1422165, + HGNC:13726, + HGNC_symbol:KMT2C ; biolink:category biolink:Gene . OMIM:606834 a owl:Class ; @@ -227598,7 +235757,6 @@ OMIM:606834 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:617284 ; - oboInOwl:hasDbXref UMLS:C1847413 ; oboInOwl:hasExactSynonym "KMT2B", "kiaa0304", "lysine-specific methyltransferase 2b", @@ -227607,29 +235765,32 @@ OMIM:606834 a owl:Class ; "trithorax, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9757 ; - skos:exactMatch HGNC_symbol:KMT2B ; + skos:exactMatch UMLS:C1847413, + HGNC:15840, + HGNC_symbol:KMT2B ; biolink:category biolink:Gene . OMIM:606835 a owl:Class ; rdfs:label "digital arthropathy-brachydactyly, familial" ; IAO:0000142 PMID:11891693, PMID:21964574 ; - oboInOwl:hasDbXref UMLS:C1847406 ; oboInOwl:hasExactSynonym "FDAB", "digital arthropathy-brachydactyly, familial" ; + skos:exactMatch UMLS:C1847406 ; biolink:category biolink:Disease . OMIM:606836 a owl:Class ; rdfs:label "GCNT3" ; IAO:0000142 PMID:9915862, PMID:9988682 ; - oboInOwl:hasDbXref UMLS:C1415023 ; oboInOwl:hasExactSynonym "GCNT3", "beta-1,6-n-acetylglucosaminyltransferase 3", "glucosaminyl (n-acetyl) transferase 3, mucin-type" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9245 ; - skos:exactMatch HGNC_symbol:GCNT3 ; + skos:exactMatch UMLS:C1415023, + HGNC:4205, + HGNC_symbol:GCNT3 ; biolink:category biolink:Gene . OMIM:606837 a owl:Class ; @@ -227645,7 +235806,6 @@ OMIM:606837 a owl:Class ; PMID:7724523 ; RO:0002525 CHR:9606chr8q11.23 ; RO:0003303 OMIM:114480 ; - oboInOwl:hasDbXref UMLS:C1423586 ; oboInOwl:hasExactSynonym "RB1CC1", "cc1", "fak family kinase-interacting protein, 200-kd", @@ -227653,7 +235813,9 @@ OMIM:606837 a owl:Class ; "rb1-inducible coiled-coil 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9821 ; - skos:exactMatch HGNC_symbol:RB1CC1 ; + skos:exactMatch UMLS:C1423586, + HGNC:15574, + HGNC_symbol:RB1CC1 ; biolink:category biolink:Gene . OMIM:606838 a owl:Class ; @@ -227674,26 +235836,28 @@ OMIM:606838 a owl:Class ; PMID:24581500, PMID:24630723, PMID:29293211 ; - oboInOwl:hasDbXref UMLS:C1538756 ; oboInOwl:hasExactSynonym "PYCARD", "apoptosis-associated speck-like protein containing a card", "pyd and card domain-containing protein", "target of methylation-induced silencing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29108 ; - skos:exactMatch HGNC_symbol:PYCARD ; + skos:exactMatch UMLS:C1538756, + HGNC:16608, + HGNC_symbol:PYCARD ; biolink:category biolink:Gene . OMIM:606839 a owl:Class ; rdfs:label "CDHR5" ; IAO:0000142 PMID:11031102 ; - oboInOwl:hasDbXref UMLS:C1417502 ; oboInOwl:hasExactSynonym "CDHR5", "cadherin-related family, member 5", "mucin and cadherin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53841 ; - skos:exactMatch HGNC_symbol:CDHR5 ; + skos:exactMatch UMLS:C1417502, + HGNC:7521, + HGNC_symbol:CDHR5 ; biolink:category biolink:Gene . OMIM:606840 a owl:Class ; @@ -227703,12 +235867,12 @@ OMIM:606840 a owl:Class ; PMID:14573377, PMID:1811324, PMID:5341985 ; - oboInOwl:hasDbXref UMLS:C1847399, - UMLS:C3149124 ; oboInOwl:hasExactSynonym "PSMNSB", "faciomandibular myoclonus, nocturnal", "parasomnia, sleep bruxism iia", "parasomnia, sleeptalking iia" ; + skos:exactMatch UMLS:C1847399, + UMLS:C3149124 ; biolink:category biolink:Disease . OMIM:606841 a owl:Class ; @@ -227716,21 +235880,22 @@ OMIM:606841 a owl:Class ; IAO:0000142 PMID:12527898, PMID:9774341, PMID:9832420 ; - oboInOwl:hasDbXref UMLS:C1413971 ; oboInOwl:hasExactSynonym "DEDD", "death effector domain-containing dna-binding protein", "death effector domain-containing protein", "death effector domain-containing testicular protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9191 ; - skos:exactMatch HGNC_symbol:DEDD ; + skos:exactMatch UMLS:C1413971, + HGNC:2755, + HGNC_symbol:DEDD ; biolink:category biolink:Gene . OMIM:606842 a owl:Class ; rdfs:label "cardioneuromyopathy with hyaline masses and nemaline rods" ; IAO:0000142 PMID:11835379 ; - oboInOwl:hasDbXref UMLS:C1847387 ; oboInOwl:hasExactSynonym "cardioneuromyopathy with hyaline masses and nemaline rods" ; + skos:exactMatch UMLS:C1847387 ; biolink:category biolink:Disease . OMIM:606844 a owl:Class ; @@ -227751,13 +235916,14 @@ OMIM:606844 a owl:Class ; PMID:9921899 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:203800 ; - oboInOwl:hasDbXref UMLS:C1412355 ; oboInOwl:hasExactSynonym "ALMS1", "alms1 centrosome and basal body associated protein", "kiaa0328" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7840 ; - skos:exactMatch HGNC_symbol:ALMS1 ; + skos:exactMatch UMLS:C1412355, + HGNC:428, + HGNC_symbol:ALMS1 ; biolink:category biolink:Gene . OMIM:606845 a owl:Class ; @@ -227770,8 +235936,6 @@ OMIM:606845 a owl:Class ; PMID:12372286, PMID:12661006, PMID:20130090 ; - oboInOwl:hasDbXref UMLS:C1425021, - UMLS:C1847375 ; oboInOwl:hasExactSynonym "GOPC", "cftr-associated ligand", "fig/ros1 fusion gene", @@ -227780,21 +235944,25 @@ OMIM:606845 a owl:Class ; "pdz protein interacting specifically with tc10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57120 ; - skos:exactMatch HGNC_symbol:GOPC ; + skos:exactMatch UMLS:C1425021, + UMLS:C1847375, + HGNC:17643, + HGNC_symbol:GOPC ; biolink:category biolink:Gene . OMIM:606846 a owl:Class ; rdfs:label "SMYD1" ; IAO:0000142 PMID:11923873, PMID:7590968 ; - oboInOwl:hasDbXref UMLS:C1427224 ; oboInOwl:hasExactSynonym "SMYD1", "cd8b-opposite", "set and mynd domain-containing protein 1", "zinc finger mynd domain-containing protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150572 ; - skos:exactMatch HGNC_symbol:SMYD1 ; + skos:exactMatch UMLS:C1427224, + HGNC:20986, + HGNC_symbol:SMYD1 ; biolink:category biolink:Gene . OMIM:606847 a owl:Class ; @@ -227829,14 +235997,15 @@ OMIM:606847 a owl:Class ; PMID:9736782 ; RO:0002525 CHR:9606chr5q32-q33.1 ; RO:0003303 OMIM:154500 ; - oboInOwl:hasDbXref UMLS:C1420654 ; oboInOwl:hasExactSynonym "TCOF1", "tcof1 gene", "treacle", "treacle ribosome biogenesis factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6949 ; - skos:exactMatch HGNC_symbol:TCOF1 ; + skos:exactMatch UMLS:C1420654, + HGNC:11654, + HGNC_symbol:TCOF1 ; biolink:category biolink:Gene . OMIM:606848 a owl:Class ; @@ -227844,38 +236013,41 @@ OMIM:606848 a owl:Class ; IAO:0000142 PMID:11701951, PMID:26814970, PMID:31189953 ; - oboInOwl:hasDbXref UMLS:C1421968 ; oboInOwl:hasExactSynonym "NEK7", "never 1n mitosis gene a-related kinase 7", "nima-related kinase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140609 ; - skos:exactMatch HGNC_symbol:NEK7 ; + skos:exactMatch UMLS:C1421968, + HGNC:13386, + HGNC_symbol:NEK7 ; biolink:category biolink:Gene . OMIM:606849 a owl:Class ; rdfs:label "UBL5" ; IAO:0000142 PMID:11161819, PMID:11923536 ; - oboInOwl:hasDbXref UMLS:C1422174 ; oboInOwl:hasExactSynonym "UBL5", "hub1, s. cerevisiae, homolog of", "ubiquitin-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59286 ; - skos:exactMatch HGNC_symbol:UBL5 ; + skos:exactMatch UMLS:C1422174, + HGNC:13736, + HGNC_symbol:UBL5 ; biolink:category biolink:Gene . OMIM:606850 a owl:Class ; rdfs:label "MIPOL1" ; IAO:0000142 PMID:11954550, PMID:12700605 ; - oboInOwl:hasDbXref UMLS:C1427563 ; oboInOwl:hasExactSynonym "MIPOL1", "mipol1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145282 ; - skos:exactMatch HGNC_symbol:MIPOL1 ; + skos:exactMatch UMLS:C1427563, + HGNC:21460, + HGNC_symbol:MIPOL1 ; biolink:category biolink:Gene . OMIM:606851 a owl:Class ; @@ -227883,33 +236055,35 @@ OMIM:606851 a owl:Class ; IAO:0000142 PMID:11807906, PMID:12124746, PMID:7604842 ; - oboInOwl:hasDbXref UMLS:C1847361 ; - oboInOwl:hasExactSynonym "cree mental retardation syndrome" . + oboInOwl:hasExactSynonym "cree mental retardation syndrome" ; + skos:exactMatch UMLS:C1847361 . OMIM:606853 a owl:Class ; rdfs:label "ATP6V1G2" ; IAO:0000142 PMID:10202016 ; - oboInOwl:hasDbXref UMLS:C1412682 ; oboInOwl:hasExactSynonym "ATP6V1G2", "atp6g2", "atpase, h+ transporting, lysosomal, 13-kd, v1 subunit g, isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:534 ; - skos:exactMatch HGNC_symbol:ATP6V1G2 ; + skos:exactMatch UMLS:C1412682, + HGNC:862, + HGNC_symbol:ATP6V1G2 ; biolink:category biolink:Gene . OMIM:606855 a owl:Class ; rdfs:label "RLN3" ; IAO:0000142 PMID:11689565, PMID:14522968 ; - oboInOwl:hasDbXref UMLS:C1424771 ; oboInOwl:hasExactSynonym "RLN3", "h3", "relaxin 3", "rxn3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117579 ; - skos:exactMatch HGNC_symbol:RLN3 ; + skos:exactMatch UMLS:C1424771, + HGNC:17135, + HGNC_symbol:RLN3 ; biolink:category biolink:Gene . OMIM:606857 a owl:Class ; @@ -227923,14 +236097,15 @@ OMIM:606857 a owl:Class ; PMID:8995480 ; RO:0002525 CHR:9606chr6p12.1 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1415097 ; oboInOwl:hasExactSynonym "GCLC", "gamma-glutamylcysteine synthetase, catalytic subunit", "glclc", "glutamate-cysteine ligase, catalytic subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2729 ; - skos:exactMatch HGNC_symbol:GCLC ; + skos:exactMatch UMLS:C1415097, + HGNC:4311, + HGNC_symbol:GCLC ; biolink:category biolink:Gene . OMIM:606858 a owl:Class ; @@ -227980,25 +236155,27 @@ OMIM:606860 a owl:Class ; PMID:9434962 ; RO:0002525 CHR:9606chr11q12.1 ; RO:0003303 OMIM:120790 ; - oboInOwl:hasDbXref UMLS:C1412922 ; oboInOwl:hasExactSynonym "C1NH", "c1i", "complement component 1 inhibitor", "serpin peptidase inhibitor, clade g, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:710 ; - skos:exactMatch HGNC_symbol:SERPING1 ; + skos:exactMatch UMLS:C1412922, + HGNC:1228, + HGNC_symbol:SERPING1 ; biolink:category biolink:Gene . OMIM:606861 a owl:Class ; rdfs:label "PATE" ; IAO:0000142 PMID:11880645 ; - oboInOwl:hasDbXref UMLS:C1847322 ; oboInOwl:hasExactSynonym "PATE", "prostate- and testis-expressed gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160065 ; - skos:exactMatch HGNC_symbol:PATE1 ; + skos:exactMatch UMLS:C1847322, + HGNC:24664, + HGNC_symbol:PATE1 ; biolink:category biolink:Gene . OMIM:606862 a owl:Class ; @@ -228006,12 +236183,13 @@ OMIM:606862 a owl:Class ; IAO:0000142 PMID:11805147, PMID:16109714, PMID:25716998 ; - oboInOwl:hasDbXref UMLS:C1847321 ; oboInOwl:hasExactSynonym "OSCAR", "osteoclast-associated receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126014 ; - skos:exactMatch HGNC_symbol:OSCAR ; + skos:exactMatch UMLS:C1847321, + HGNC:29960, + HGNC_symbol:OSCAR ; biolink:category biolink:Gene . OMIM:606863 a owl:Class ; @@ -228022,7 +236200,6 @@ OMIM:606863 a owl:Class ; PMID:31207604, PMID:31207605, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1847320 ; oboInOwl:hasExactSynonym "TOX", "kiaa0808", "thymocyte selection-associated high mobility group box", @@ -228030,7 +236207,9 @@ OMIM:606863 a owl:Class ; "tox1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9760 ; - skos:exactMatch HGNC_symbol:TOX ; + skos:exactMatch UMLS:C1847320, + HGNC:18988, + HGNC_symbol:TOX ; biolink:category biolink:Gene . OMIM:606864 a owl:Class ; @@ -228039,10 +236218,10 @@ OMIM:606864 a owl:Class ; PMID:15383933, PMID:17667967, PMID:17804857 ; - oboInOwl:hasDbXref UMLS:C1847319 ; oboInOwl:hasExactSynonym "carney-stratakis syndrome", "paraganglioma and gastric stromal sarcoma", "paraganglioma and gastrointestinal stromal tumor" ; + skos:exactMatch UMLS:C1847319 ; biolink:category biolink:Disease . OMIM:606865 a owl:Class ; @@ -228052,25 +236231,27 @@ OMIM:606865 a owl:Class ; PMID:10929005, PMID:11278338, PMID:19460885 ; - oboInOwl:hasDbXref UMLS:C1414870 ; oboInOwl:hasExactSynonym "FUT9", "fucosyltransferase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10690 ; - skos:exactMatch HGNC_symbol:FUT9 ; + skos:exactMatch UMLS:C1414870, + HGNC:4020, + HGNC_symbol:FUT9 ; biolink:category biolink:Gene . OMIM:606866 a owl:Class ; rdfs:label "MRPL49" ; IAO:0000142 PMID:11551941, PMID:8786148 ; - oboInOwl:hasDbXref UMLS:C1412875 ; oboInOwl:hasExactSynonym "MRPL49", "mitochondrial ribosomal protein l49", "next to fau" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:740 ; - skos:exactMatch HGNC_symbol:MRPL49 ; + skos:exactMatch UMLS:C1412875, + HGNC:1176, + HGNC_symbol:MRPL49 ; biolink:category biolink:Gene . OMIM:606867 a owl:Class ; @@ -228079,7 +236260,6 @@ OMIM:606867 a owl:Class ; PMID:12015985, PMID:12543795, PMID:9628863 ; - oboInOwl:hasDbXref UMLS:C1424530 ; oboInOwl:hasExactSynonym "GORASP1", "golgi peripheral membrane protein p65", "golgi phosphoprotein 5", @@ -228087,7 +236267,9 @@ OMIM:606867 a owl:Class ; "golgi reassembly stacking protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64689 ; - skos:exactMatch HGNC_symbol:GORASP1 ; + skos:exactMatch UMLS:C1424530, + HGNC:16769, + HGNC_symbol:GORASP1 ; biolink:category biolink:Gene . OMIM:606868 a owl:Class ; @@ -228103,12 +236285,13 @@ OMIM:606868 a owl:Class ; PMID:17533375, PMID:17658469, PMID:19794125 ; - oboInOwl:hasDbXref UMLS:C1422622 ; oboInOwl:hasExactSynonym "HIPK2", "homeodomain-interacting protein kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28996 ; - skos:exactMatch HGNC_symbol:HIPK2 ; + skos:exactMatch UMLS:C1422622, + HGNC:14402, + HGNC_symbol:HIPK2 ; biolink:category biolink:Gene . OMIM:606869 a owl:Class ; @@ -228210,13 +236393,14 @@ OMIM:606869 a owl:Class ; PMID:9603435 ; RO:0002525 CHR:9606chr15q23 ; RO:0003303 OMIM:272800 ; - oboInOwl:hasDbXref UMLS:C1415522 ; oboInOwl:hasExactSynonym "HEXA", "beta-hexosaminidase a", "hexosaminidase a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3073 ; - skos:exactMatch HGNC_symbol:HEXA ; + skos:exactMatch UMLS:C1415522, + HGNC:4878, + HGNC_symbol:HEXA ; biolink:category biolink:Gene . OMIM:606870 a owl:Class ; @@ -228233,15 +236417,16 @@ OMIM:606870 a owl:Class ; PMID:32142645 ; RO:0002525 CHR:9606chr21q21.3 ; RO:0003303 OMIM:618824 ; - oboInOwl:hasDbXref UMLS:C1422840, - UMLS:C5394199 ; oboInOwl:hasExactSynonym "JAM2", "jam, vascular endothelial", "jam-b", "junctional adhesion molecule 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58494 ; - skos:exactMatch HGNC_symbol:JAM2 ; + skos:exactMatch UMLS:C1422840, + UMLS:C5394199, + HGNC:14686, + HGNC_symbol:JAM2 ; biolink:category biolink:Gene . OMIM:606871 a owl:Class ; @@ -228259,14 +236444,15 @@ OMIM:606871 a owl:Class ; PMID:23255084 ; RO:0002525 CHR:9606chr11q25 ; RO:0003303 OMIM:613730 ; - oboInOwl:hasDbXref UMLS:C1423559, - UMLS:C3151000 ; oboInOwl:hasExactSynonym "JAM3", "jam-c", "junctional adhesion molecule 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83700 ; - skos:exactMatch HGNC_symbol:JAM3 ; + skos:exactMatch UMLS:C1423559, + UMLS:C3151000, + HGNC:15532, + HGNC_symbol:JAM3 ; biolink:category biolink:Gene . OMIM:606872 a owl:Class ; @@ -228274,13 +236460,14 @@ OMIM:606872 a owl:Class ; IAO:0000142 PMID:11836526, PMID:18690214, PMID:24100041 ; - oboInOwl:hasDbXref UMLS:C1427430 ; oboInOwl:hasExactSynonym "CBLL1", "cas-br-m murine ectopic retroviral transforming sequence like-1", "hakai, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79872 ; - skos:exactMatch HGNC_symbol:CBLL1 ; + skos:exactMatch UMLS:C1427430, + HGNC:21225, + HGNC_symbol:CBLL1 ; biolink:category biolink:Gene . OMIM:606873 a owl:Class ; @@ -228336,7 +236523,12 @@ OMIM:606873 a owl:Class ; PMID:9888387 ; RO:0002525 CHR:9606chr5q13.3 ; RO:0003303 OMIM:268800 ; - oboInOwl:hasDbXref UMLS:C0036161, + oboInOwl:hasExactSynonym "HEXB", + "enc1, antisense", + "hexosaminidase B" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:3074 ; + skos:exactMatch UMLS:C0036161, UMLS:C0751489, UMLS:C0751490, UMLS:C1415523, @@ -228346,25 +236538,22 @@ OMIM:606873 a owl:Class ; UMLS:C4016989, UMLS:C4310842, UMLS:C4310887, - UMLS:C4310888 ; - oboInOwl:hasExactSynonym "HEXB", - "enc1, antisense", - "hexosaminidase B" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:3074 ; - skos:exactMatch HGNC_symbol:HEXB ; + UMLS:C4310888, + HGNC:4879, + HGNC_symbol:HEXB ; biolink:category biolink:Gene . OMIM:606876 a owl:Class ; rdfs:label "PITPNB" ; IAO:0000142 PMID:1883207, PMID:8541325 ; - oboInOwl:hasDbXref UMLS:C1418593 ; oboInOwl:hasExactSynonym "PITPNB", "phosphatidylinositol transfer protein, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23760 ; - skos:exactMatch HGNC_symbol:PITPNB ; + skos:exactMatch UMLS:C1418593, + HGNC:9002, + HGNC_symbol:PITPNB ; biolink:category biolink:Gene . OMIM:606877 a owl:Class ; @@ -228372,26 +236561,28 @@ OMIM:606877 a owl:Class ; IAO:0000142 PMID:10086381, PMID:10400610, PMID:15146458 ; - oboInOwl:hasDbXref UMLS:C1332091 ; oboInOwl:hasExactSynonym "ANP32C", "acidic leucine-rich nuclear phosphoprotein 32 family, member c", "pp32r1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23520 ; - skos:exactMatch HGNC_symbol:ANP32C ; + skos:exactMatch UMLS:C1332091, + HGNC:16675, + HGNC_symbol:ANP32C ; biolink:category biolink:Gene . OMIM:606878 a owl:Class ; rdfs:label "ANP32D" ; IAO:0000142 PMID:10086381, PMID:10400610 ; - oboInOwl:hasDbXref UMLS:C1332093 ; oboInOwl:hasExactSynonym "ANP32D", "acidic leucine-rich nuclear phosphoprotein 32 family, member d", "pp32r2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23519 ; - skos:exactMatch HGNC_symbol:ANP32D ; + skos:exactMatch UMLS:C1332093, + HGNC:16676, + HGNC_symbol:ANP32D ; biolink:category biolink:Gene . OMIM:606879 a owl:Class ; @@ -228410,15 +236601,16 @@ OMIM:606879 a owl:Class ; PMID:29269105 ; RO:0002525 CHR:9606chr1p12 ; RO:0003303 OMIM:601815 ; - oboInOwl:hasDbXref UMLS:C1418531, - UMLS:C1866174, - UMLS:C4551478 ; oboInOwl:hasExactSynonym "3-phosphoglycerate dehydrogenase", "PHGDH", "phosphoglycerate dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26227 ; - skos:exactMatch HGNC_symbol:PHGDH ; + skos:exactMatch UMLS:C1418531, + UMLS:C1866174, + UMLS:C4551478, + HGNC:8923, + HGNC_symbol:PHGDH ; biolink:category biolink:Gene . OMIM:606880 a owl:Class ; @@ -228431,14 +236623,15 @@ OMIM:606880 a owl:Class ; PMID:17003126, PMID:19546234, PMID:19854135 ; - oboInOwl:hasDbXref UMLS:C1413133 ; oboInOwl:hasExactSynonym "CASP8AP2", "caspase 8-associated protein 2", "flice-associated huge protein", "kiaa1315" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9994 ; - skos:exactMatch HGNC_symbol:CASP8AP2 ; + skos:exactMatch UMLS:C1413133, + HGNC:1510, + HGNC_symbol:CASP8AP2 ; biolink:category biolink:Gene . OMIM:606881 a owl:Class ; @@ -228446,13 +236639,14 @@ OMIM:606881 a owl:Class ; IAO:0000142 PMID:10352228, PMID:11590143, PMID:15095401 ; - oboInOwl:hasDbXref UMLS:C1425164 ; oboInOwl:hasExactSynonym "FHOD1", "fh1/fh2 domain-containing protein", "formin homology-2 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29109 ; - skos:exactMatch HGNC_symbol:FHOD1 ; + skos:exactMatch UMLS:C1425164, + HGNC:17905, + HGNC_symbol:FHOD1 ; biolink:category biolink:Gene . OMIM:606882 a owl:Class ; @@ -228508,15 +236702,16 @@ OMIM:606882 a owl:Class ; PMID:9887381 ; RO:0002525 CHR:9606chr13q14.3 ; RO:0003303 OMIM:277900 ; - oboInOwl:hasDbXref UMLS:C0019202, - UMLS:C1412689 ; oboInOwl:hasExactSynonym "ATP7B", "atpase copper transporting beta", "atpase, cu(2+)-transporting, beta polypeptide", "wnd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:540 ; - skos:exactMatch HGNC_symbol:ATP7B ; + skos:exactMatch UMLS:C0019202, + UMLS:C1412689, + HGNC:870, + HGNC_symbol:ATP7B ; biolink:category biolink:Gene . OMIM:606883 a owl:Class ; @@ -228541,14 +236736,15 @@ OMIM:606883 a owl:Class ; PMID:9789052 ; RO:0002525 CHR:9606chr12q12 ; RO:0003303 OMIM:607676 ; - oboInOwl:hasDbXref UMLS:C1334137, - UMLS:C1843256 ; oboInOwl:hasExactSynonym "IRAK4", "interleukin 1 receptor-associated kinase 4", "ren64" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51135 ; - skos:exactMatch HGNC_symbol:IRAK4 ; + skos:exactMatch UMLS:C1334137, + UMLS:C1843256, + HGNC:17967, + HGNC_symbol:IRAK4 ; biolink:category biolink:Gene . OMIM:606884 a owl:Class ; @@ -228558,14 +236754,15 @@ OMIM:606884 a owl:Class ; PMID:11085536, PMID:12036935, PMID:9500467 ; - oboInOwl:hasDbXref UMLS:C1419301 ; oboInOwl:hasExactSynonym "RBM5", "g15", "luca15", "rna-binding motif protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10181 ; - skos:exactMatch HGNC_symbol:RBM5 ; + skos:exactMatch UMLS:C1419301, + HGNC:9902, + HGNC_symbol:RBM5 ; biolink:category biolink:Gene . OMIM:606885 a owl:Class ; @@ -228584,14 +236781,15 @@ OMIM:606885 a owl:Class ; PMID:9499414 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:201470 ; - oboInOwl:hasDbXref UMLS:C1412108 ; oboInOwl:hasExactSynonym "ACADS", "acyl-coa dehydrogenase, c-2 to c-3 short chain", "acyl-coa dehydrogenase, short-chain", "short-chain acyl-coa dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:35 ; - skos:exactMatch HGNC_symbol:ACADS ; + skos:exactMatch UMLS:C1412108, + HGNC:90, + HGNC_symbol:ACADS ; biolink:category biolink:Gene . OMIM:606886 a owl:Class ; @@ -228600,13 +236798,14 @@ OMIM:606886 a owl:Class ; PMID:10353602, PMID:10965133, PMID:9500467 ; - oboInOwl:hasDbXref UMLS:C1335604 ; oboInOwl:hasExactSynonym "RBM6", "def3", "rna-binding motif protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10180 ; - skos:exactMatch HGNC_symbol:RBM6 ; + skos:exactMatch UMLS:C1335604, + HGNC:9903, + HGNC_symbol:RBM6 ; biolink:category biolink:Gene . OMIM:606887 a owl:Class ; @@ -228619,13 +236818,14 @@ OMIM:606887 a owl:Class ; PMID:9600976 ; RO:0002525 CHR:9606chr12q13.2 ; RO:0003303 OMIM:272300 ; - oboInOwl:hasDbXref UMLS:C1420521, - UMLS:C2931746 ; oboInOwl:hasExactSynonym "SUOX", "sulfite oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6821 ; - skos:exactMatch HGNC_symbol:SUOX ; + skos:exactMatch UMLS:C1420521, + UMLS:C2931746, + HGNC:11460, + HGNC_symbol:SUOX ; biolink:category biolink:Gene . OMIM:606888 a owl:Class ; @@ -228636,12 +236836,13 @@ OMIM:606888 a owl:Class ; PMID:18940593, PMID:8906617, PMID:8950106 ; - oboInOwl:hasDbXref UMLS:C1423867 ; oboInOwl:hasExactSynonym "CHRNA6", "cholinergic receptor, neuronal nicotinic, alpha polypeptide 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8973 ; - skos:exactMatch HGNC_symbol:CHRNA6 ; + skos:exactMatch UMLS:C1423867, + HGNC:15963, + HGNC_symbol:CHRNA6 ; biolink:category biolink:Gene . OMIM:606889 a owl:Class ; @@ -228659,10 +236860,10 @@ OMIM:606889 a owl:Class ; PMID:7651536, PMID:9007102, PMID:9450781 ; - oboInOwl:hasDbXref UMLS:C1847200 ; oboInOwl:hasExactSynonym "ad4", "alzheimer disease 4", "alzheimer disease, familial, 4" ; + skos:exactMatch UMLS:C1847200 ; biolink:category biolink:Disease . OMIM:606890 a owl:Class ; @@ -228692,20 +236893,20 @@ OMIM:606890 a owl:Class ; PMID:9272171 ; RO:0002525 CHR:9606chr14q31.3 ; RO:0003303 OMIM:245200 ; - oboInOwl:hasDbXref UMLS:C1414946 ; oboInOwl:hasExactSynonym "GALC", "galactocerebrosidase", "galactosylceramidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2581 ; - skos:exactMatch HGNC_symbol:GALC ; + skos:exactMatch UMLS:C1414946, + HGNC:4115, + HGNC_symbol:GALC ; biolink:category biolink:Gene . OMIM:606891 a owl:Class ; rdfs:label "FCRLA" ; IAO:0000142 PMID:11891275, PMID:15454493 ; - oboInOwl:hasDbXref UMLS:C1825286 ; oboInOwl:hasExactSynonym "FCRLA", "fc receptor homolog expressed 1n B cells", "fc receptor-like protein", @@ -228714,7 +236915,9 @@ OMIM:606891 a owl:Class ; "fcrx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84824 ; - skos:exactMatch HGNC_symbol:FCRLA ; + skos:exactMatch UMLS:C1825286, + HGNC:18504, + HGNC_symbol:FCRLA ; biolink:category biolink:Gene . OMIM:606892 a owl:Class ; @@ -228722,26 +236925,27 @@ OMIM:606892 a owl:Class ; IAO:0000142 PMID:12218144, PMID:9507000, PMID:9553086 ; - oboInOwl:hasDbXref UMLS:C1420495 ; oboInOwl:hasExactSynonym "STX12", "stx13", "syntaxin 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23673 ; - skos:exactMatch HGNC_symbol:STX12 ; + skos:exactMatch UMLS:C1420495, + HGNC:11430, + HGNC_symbol:STX12 ; biolink:category biolink:Gene . OMIM:606894 a owl:Class ; rdfs:label "duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery" ; IAO:0000142 PMID:11932992 ; - oboInOwl:hasDbXref UMLS:C1847196 ; - oboInOwl:hasExactSynonym "duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery" . + oboInOwl:hasExactSynonym "duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery" ; + skos:exactMatch UMLS:C1847196 . OMIM:606895 a owl:Class ; rdfs:label "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" ; IAO:0000142 PMID:11932993 ; - oboInOwl:hasDbXref UMLS:C1847185 ; - oboInOwl:hasExactSynonym "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" . + oboInOwl:hasExactSynonym "symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch" ; + skos:exactMatch UMLS:C1847185 . OMIM:606897 a owl:Class ; rdfs:label "LYST" ; @@ -228762,37 +236966,40 @@ OMIM:606897 a owl:Class ; PMID:9606205 ; RO:0002525 CHR:9606chr1q42.3 ; RO:0003303 OMIM:214500 ; - oboInOwl:hasDbXref UMLS:C1537630 ; oboInOwl:hasExactSynonym "LYST", "chs1 gene", "lysosomal trafficking regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1130 ; - skos:exactMatch HGNC_symbol:LYST ; + skos:exactMatch UMLS:C1537630, + HGNC:1968, + HGNC_symbol:LYST ; biolink:category biolink:Gene . OMIM:606898 a owl:Class ; rdfs:label "CACNG6" ; IAO:0000142 PMID:11170751, PMID:11738816 ; - oboInOwl:hasDbXref UMLS:C1422114 ; oboInOwl:hasExactSynonym "CACNG6", "calcium channel, voltage-dependent, gamma-6 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59285 ; - skos:exactMatch HGNC_symbol:CACNG6 ; + skos:exactMatch UMLS:C1422114, + HGNC:13625, + HGNC_symbol:CACNG6 ; biolink:category biolink:Gene . OMIM:606899 a owl:Class ; rdfs:label "CACNG7" ; IAO:0000142 PMID:11170751, PMID:11738816 ; - oboInOwl:hasDbXref UMLS:C1422115 ; oboInOwl:hasExactSynonym "CACNG7", "calcium channel, voltage-dependent, gamma-7 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59284 ; - skos:exactMatch HGNC_symbol:CACNG7 ; + skos:exactMatch UMLS:C1422115, + HGNC:13626, + HGNC_symbol:CACNG7 ; biolink:category biolink:Gene . OMIM:606900 a owl:Class ; @@ -228801,12 +237008,13 @@ OMIM:606900 a owl:Class ; PMID:11738816, PMID:16222232, PMID:30872532 ; - oboInOwl:hasDbXref UMLS:C1422116 ; oboInOwl:hasExactSynonym "CACNG8", "calcium channel, voltage-dependent, gamma-8 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59283 ; - skos:exactMatch HGNC_symbol:CACNG8 ; + skos:exactMatch UMLS:C1422116, + HGNC:13628, + HGNC_symbol:CACNG8 ; biolink:category biolink:Gene . OMIM:606901 a owl:Class ; @@ -228816,25 +237024,27 @@ OMIM:606901 a owl:Class ; OMIM:606902 a owl:Class ; rdfs:label "PYGO1" ; IAO:0000142 PMID:11955446 ; - oboInOwl:hasDbXref UMLS:C1538758 ; oboInOwl:hasExactSynonym "PYGO1", "pygopus family phd finger 1", "pygopus, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26108 ; - skos:exactMatch HGNC_symbol:PYGO1 ; + skos:exactMatch UMLS:C1538758, + HGNC:30256, + HGNC_symbol:PYGO1 ; biolink:category biolink:Gene . OMIM:606903 a owl:Class ; rdfs:label "PYGO2" ; IAO:0000142 PMID:11955446 ; - oboInOwl:hasDbXref UMLS:C1538759 ; oboInOwl:hasExactSynonym "PYGO2", "pygopus family phd finger 2", "pygopus, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90780 ; - skos:exactMatch HGNC_symbol:PYGO2 ; + skos:exactMatch UMLS:C1538759, + HGNC:30257, + HGNC_symbol:PYGO2 ; biolink:category biolink:Gene . OMIM:606904 a owl:Class ; @@ -228845,13 +237055,14 @@ OMIM:606905 a owl:Class ; rdfs:label "PREX1" ; IAO:0000142 PMID:11955434, PMID:18334636 ; - oboInOwl:hasDbXref UMLS:C1847163 ; oboInOwl:hasExactSynonym "PREX1", "kiaa1415", "phosphatidylinositol 3,4,5-trisphosphate-dependent rac exchanger 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57580 ; - skos:exactMatch HGNC_symbol:PREX1 ; + skos:exactMatch UMLS:C1847163, + HGNC:32594, + HGNC_symbol:PREX1 ; biolink:category biolink:Gene . OMIM:606906 a owl:Class ; @@ -228861,7 +237072,6 @@ OMIM:606906 a owl:Class ; PMID:28973171 ; RO:0002525 CHR:9606chr7p22.3 ; RO:0003303 OMIM:618567 ; - oboInOwl:hasDbXref UMLS:C1424210 ; oboInOwl:hasExactSynonym "MRM2", "fjh1", "ftsj, e. coli, homolog of, 2", @@ -228869,7 +237079,9 @@ OMIM:606906 a owl:Class ; "mitochondrial rrna methyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29960 ; - skos:exactMatch HGNC_symbol:MRM2 ; + skos:exactMatch UMLS:C1424210, + HGNC:16352, + HGNC_symbol:MRM2 ; biolink:category biolink:Gene . OMIM:606907 a owl:Class ; @@ -228879,38 +237091,41 @@ OMIM:606907 a owl:Class ; PMID:18381283, PMID:26053123, PMID:8812450 ; - oboInOwl:hasDbXref UMLS:C1422268 ; oboInOwl:hasExactSynonym "APOM", "apolipoprotein m", "ng20, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55937 ; - skos:exactMatch HGNC_symbol:APOM ; + skos:exactMatch UMLS:C1422268, + HGNC:13916, + HGNC_symbol:APOM ; biolink:category biolink:Gene . OMIM:606908 a owl:Class ; rdfs:label "ARFGAP2" ; IAO:0000142 PMID:11278321, PMID:17760859 ; - oboInOwl:hasDbXref UMLS:C1422025 ; oboInOwl:hasExactSynonym "ARFGAP2", "adp-ribosylation factor gtpase-activating protein 2", "zinc finger protein 289, id1-regulated, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84364 ; - skos:exactMatch HGNC_symbol:ARFGAP2 ; + skos:exactMatch UMLS:C1422025, + HGNC:13504, + HGNC_symbol:ARFGAP2 ; biolink:category biolink:Gene . OMIM:606909 a owl:Class ; rdfs:label "VAMP4" ; IAO:0000142 PMID:10359608, PMID:9553086 ; - oboInOwl:hasDbXref UMLS:C1421421 ; oboInOwl:hasExactSynonym "VAMP4", "vesicle-associated membrane protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8674 ; - skos:exactMatch HGNC_symbol:VAMP4 ; + skos:exactMatch UMLS:C1421421, + HGNC:12645, + HGNC_symbol:VAMP4 ; biolink:category biolink:Gene . OMIM:606910 a owl:Class ; @@ -228920,12 +237135,13 @@ OMIM:606910 a owl:Class ; PMID:11566354, PMID:11689480, PMID:27455953 ; - oboInOwl:hasDbXref UMLS:C1412762 ; oboInOwl:hasExactSynonym "BCL2L10", "bcl2-like 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10017 ; - skos:exactMatch HGNC_symbol:BCL2L10 ; + skos:exactMatch UMLS:C1412762, + HGNC:993, + HGNC_symbol:BCL2L10 ; biolink:category biolink:Gene . OMIM:606911 a owl:Class ; @@ -228933,48 +237149,52 @@ OMIM:606911 a owl:Class ; IAO:0000142 PMID:8404846, PMID:9378760, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1419839 ; oboInOwl:hasExactSynonym "SCAMP1", "scamp37, rat, homolog of", "secretory carrier membrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9522 ; - skos:exactMatch HGNC_symbol:SCAMP1 ; + skos:exactMatch UMLS:C1419839, + HGNC:10563, + HGNC_symbol:SCAMP1 ; biolink:category biolink:Gene . OMIM:606912 a owl:Class ; rdfs:label "SCAMP2" ; IAO:0000142 PMID:9378760 ; - oboInOwl:hasDbXref UMLS:C1419840 ; oboInOwl:hasExactSynonym "SCAMP2", "secretory carrier membrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10066 ; - skos:exactMatch HGNC_symbol:SCAMP2 ; + skos:exactMatch UMLS:C1419840, + HGNC:10564, + HGNC_symbol:SCAMP2 ; biolink:category biolink:Gene . OMIM:606913 a owl:Class ; rdfs:label "SCAMP3" ; IAO:0000142 PMID:9331372, PMID:9378760 ; - oboInOwl:hasDbXref UMLS:C1419841 ; oboInOwl:hasExactSynonym "SCAMP3", "propin1", "secretory carrier membrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10067 ; - skos:exactMatch HGNC_symbol:SCAMP3 ; + skos:exactMatch UMLS:C1419841, + HGNC:10565, + HGNC_symbol:SCAMP3 ; biolink:category biolink:Gene . OMIM:606914 a owl:Class ; rdfs:label "PKIB" ; IAO:0000142 PMID:2052616 ; - oboInOwl:hasDbXref UMLS:C1418607 ; oboInOwl:hasExactSynonym "PKIB", "protein kinase, camp-dependent catalytic, inhibitor beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5570 ; - skos:exactMatch HGNC_symbol:PKIB ; + skos:exactMatch UMLS:C1418607, + HGNC:9018, + HGNC_symbol:PKIB ; biolink:category biolink:Gene . OMIM:606915 a owl:Class ; @@ -228982,37 +237202,40 @@ OMIM:606915 a owl:Class ; IAO:0000142 PMID:11027574, PMID:11027575, PMID:11165367 ; - oboInOwl:hasDbXref UMLS:C1421928 ; oboInOwl:hasExactSynonym "GPR63", "g protein-coupled receptor 63", "psp24b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81491 ; - skos:exactMatch HGNC_symbol:GPR63 ; + skos:exactMatch UMLS:C1421928, + HGNC:13302, + HGNC_symbol:GPR63 ; biolink:category biolink:Gene . OMIM:606916 a owl:Class ; rdfs:label "GPR61" ; IAO:0000142 PMID:11165367, PMID:11690637 ; - oboInOwl:hasDbXref UMLS:C1421926 ; oboInOwl:hasExactSynonym "GPR61", "biogenic amine receptor-like gpcr", "g protein-coupled receptor 61" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83873 ; - skos:exactMatch HGNC_symbol:GPR61 ; + skos:exactMatch UMLS:C1421926, + HGNC:13300, + HGNC_symbol:GPR61 ; biolink:category biolink:Gene . OMIM:606917 a owl:Class ; rdfs:label "GPR62" ; IAO:0000142 PMID:11165367 ; - oboInOwl:hasDbXref UMLS:C1421927 ; oboInOwl:hasExactSynonym "GPR62", "g protein-coupled receptor 62" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118442 ; - skos:exactMatch HGNC_symbol:GPR62 ; + skos:exactMatch UMLS:C1421927, + HGNC:13301, + HGNC_symbol:GPR62 ; biolink:category biolink:Gene . OMIM:606918 a owl:Class ; @@ -229023,8 +237246,6 @@ OMIM:606918 a owl:Class ; PMID:28509431, PMID:9443391, PMID:9915833 ; - oboInOwl:hasDbXref UMLS:C1415177, - UMLS:C1847162 ; oboInOwl:hasExactSynonym "GOLGA5", "golgi autoantigen, golgin subfamily a, 5", "golgin 84", @@ -229033,7 +237254,10 @@ OMIM:606918 a owl:Class ; "ret-fused gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9950 ; - skos:exactMatch HGNC_symbol:GOLGA5 ; + skos:exactMatch UMLS:C1415177, + UMLS:C1847162, + HGNC:4428, + HGNC_symbol:GOLGA5 ; biolink:category biolink:Gene . OMIM:606919 a owl:Class ; @@ -229047,14 +237271,15 @@ OMIM:606919 a owl:Class ; PMID:9872981 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:616230 ; - oboInOwl:hasDbXref UMLS:C1422514 ; oboInOwl:hasExactSynonym "CERS1", "ceramide synthase 1", "lag1, s. cerevisiae, homolog of, 1", "upstream of gdf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10715 ; - skos:exactMatch HGNC_symbol:CERS1 ; + skos:exactMatch UMLS:C1422514, + HGNC:14253, + HGNC_symbol:CERS1 ; biolink:category biolink:Gene . OMIM:606920 a owl:Class ; @@ -229063,13 +237288,14 @@ OMIM:606920 a owl:Class ; PMID:18165233, PMID:20110366, PMID:21705317 ; - oboInOwl:hasDbXref UMLS:C1422392 ; oboInOwl:hasExactSynonym "CERS2", "ceramide synthase 2", "lag1, s. cerevisiae, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29956 ; - skos:exactMatch HGNC_symbol:CERS2 ; + skos:exactMatch UMLS:C1422392, + HGNC:14076, + HGNC_symbol:CERS2 ; biolink:category biolink:Gene . OMIM:606921 a owl:Class ; @@ -229077,12 +237303,13 @@ OMIM:606921 a owl:Class ; IAO:0000142 PMID:10708769, PMID:11574155, PMID:21289099 ; - oboInOwl:hasDbXref UMLS:C1415259 ; oboInOwl:hasExactSynonym "GPR78", "g protein-coupled receptor 78" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27201 ; - skos:exactMatch HGNC_symbol:GPR78 ; + skos:exactMatch UMLS:C1415259, + HGNC:4528, + HGNC_symbol:GPR78 ; biolink:category biolink:Gene . OMIM:606922 a owl:Class ; @@ -229090,13 +237317,14 @@ OMIM:606922 a owl:Class ; IAO:0000142 PMID:11574155, PMID:12098360, PMID:15141213 ; - oboInOwl:hasDbXref UMLS:C1538558 ; oboInOwl:hasExactSynonym "GPR80", "g protein-coupled receptor 80", "gpr99" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27199 ; - skos:exactMatch HGNC_symbol:OXGR1 ; + skos:exactMatch UMLS:C1538558, + HGNC:4531, + HGNC_symbol:OXGR1 ; biolink:category biolink:Gene . OMIM:606923 a owl:Class ; @@ -229104,7 +237332,6 @@ OMIM:606923 a owl:Class ; IAO:0000142 PMID:11574155, PMID:12522134, PMID:15177553 ; - oboInOwl:hasDbXref UMLS:C1415263 ; oboInOwl:hasExactSynonym "HCAR1", "g protein-coupled receptor 81", "hca1", @@ -229112,7 +237339,9 @@ OMIM:606923 a owl:Class ; "t-cell activation g protein-coupled receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27198 ; - skos:exactMatch HGNC_symbol:HCAR1 ; + skos:exactMatch UMLS:C1415263, + HGNC:4532, + HGNC_symbol:HCAR1 ; biolink:category biolink:Gene . OMIM:606924 a owl:Class ; @@ -229125,7 +237354,6 @@ OMIM:606925 a owl:Class ; PMID:12714592, PMID:12960173, PMID:16648250 ; - oboInOwl:hasDbXref UMLS:C1423577 ; oboInOwl:hasExactSynonym "QRFPR", "aq27", "g protein-coupled receptor 103", @@ -229133,13 +237361,14 @@ OMIM:606925 a owl:Class ; "sp9155" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84109 ; - skos:exactMatch HGNC_symbol:QRFPR ; + skos:exactMatch UMLS:C1423577, + HGNC:15565, + HGNC_symbol:QRFPR ; biolink:category biolink:Gene . OMIM:606926 a owl:Class ; rdfs:label "LPAR5" ; IAO:0000142 PMID:11574155 ; - oboInOwl:hasDbXref UMLS:C1421929 ; oboInOwl:hasExactSynonym "LPAR5", "g protein-coupled receptor 92", "gpr93", @@ -229147,7 +237376,9 @@ OMIM:606926 a owl:Class ; "lysophosphatidic acid receptor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57121 ; - skos:exactMatch HGNC_symbol:LPAR5 ; + skos:exactMatch UMLS:C1421929, + HGNC:13307, + HGNC_symbol:LPAR5 ; biolink:category biolink:Gene . OMIM:606927 a owl:Class ; @@ -229155,7 +237386,6 @@ OMIM:606927 a owl:Class ; IAO:0000142 PMID:11459929, PMID:11574155, PMID:15718104 ; - oboInOwl:hasDbXref UMLS:C1539915 ; oboInOwl:hasExactSynonym "TAAR8", "g protein-coupled receptor 102", "ta5", @@ -229163,20 +237393,23 @@ OMIM:606927 a owl:Class ; "trace amine-associated receptor 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83551 ; - skos:exactMatch HGNC_symbol:TAAR8 ; + skos:exactMatch UMLS:C1539915, + HGNC:14964, + HGNC_symbol:TAAR8 ; biolink:category biolink:Gene . OMIM:606929 a owl:Class ; rdfs:label "THOC3" ; IAO:0000142 PMID:11979277, PMID:15998806 ; - oboInOwl:hasDbXref UMLS:C1425989 ; oboInOwl:hasExactSynonym "THOC3", "tex1, yeast, homolog of", "tho complex, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84321 ; - skos:exactMatch HGNC_symbol:THOC3 ; + skos:exactMatch UMLS:C1425989, + HGNC:19072, + HGNC_symbol:THOC3 ; biolink:category biolink:Gene . OMIM:606930 a owl:Class ; @@ -229189,7 +237422,6 @@ OMIM:606930 a owl:Class ; PMID:16705185, PMID:19307311, PMID:7525595 ; - oboInOwl:hasDbXref UMLS:C1425987 ; oboInOwl:hasExactSynonym "THOC1", "hpr1, yeast, homolog of", "nuclear matrix protein p84", @@ -229197,7 +237429,9 @@ OMIM:606930 a owl:Class ; "tho complex, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9984 ; - skos:exactMatch HGNC_symbol:THOC1 ; + skos:exactMatch UMLS:C1425987, + HGNC:19070, + HGNC_symbol:THOC1 ; biolink:category biolink:Gene . OMIM:606931 a owl:Class ; @@ -229211,7 +237445,6 @@ OMIM:606932 a owl:Class ; PMID:17891154, PMID:19531583, PMID:28892079 ; - oboInOwl:hasDbXref UMLS:C1422577 ; oboInOwl:hasExactSynonym "VPS29", "dc15", "dc7", @@ -229221,7 +237454,9 @@ OMIM:606932 a owl:Class ; "vps29 retromer complex component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51699 ; - skos:exactMatch HGNC_symbol:VPS29 ; + skos:exactMatch UMLS:C1422577, + HGNC:14340, + HGNC_symbol:VPS29 ; biolink:category biolink:Gene . OMIM:606933 a owl:Class ; @@ -229275,19 +237510,20 @@ OMIM:606933 a owl:Class ; PMID:9158138 ; RO:0002525 CHR:9606chr11q14.3 ; RO:0003303 OMIM:601800 ; - oboInOwl:hasDbXref UMLS:C1421250, + oboInOwl:hasExactSynonym "TYR", + "tyrosinase" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:7299 ; + skos:exactMatch UMLS:C1421250, UMLS:C1847024, UMLS:C1847132, UMLS:C2677190, UMLS:C3149136, UMLS:C3152204, UMLS:C4225528, - UMLS:C4551504 ; - oboInOwl:hasExactSynonym "TYR", - "tyrosinase" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:7299 ; - skos:exactMatch HGNC_symbol:TYR ; + UMLS:C4551504, + HGNC:12442, + HGNC_symbol:TYR ; biolink:category biolink:Gene . OMIM:606934 a owl:Class ; @@ -229298,7 +237534,6 @@ OMIM:606934 a owl:Class ; PMID:9769214 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:618234 ; - oboInOwl:hasDbXref UMLS:C1425806 ; oboInOwl:hasExactSynonym "NADH dehydrogenase (ubiquinone) complex i, assembly factor 1", "NADH dehydrogenase 1 alpha subcomplex, assembly factor 1", "NDUFAF1", @@ -229307,7 +237542,9 @@ OMIM:606934 a owl:Class ; "nadh-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51103 ; - skos:exactMatch HGNC_symbol:NDUFAF1 ; + skos:exactMatch UMLS:C1425806, + HGNC:18828, + HGNC_symbol:NDUFAF1 ; biolink:category biolink:Gene . OMIM:606935 a owl:Class ; @@ -229316,13 +237553,14 @@ OMIM:606935 a owl:Class ; PMID:17676041, PMID:18337722, PMID:9731529 ; - oboInOwl:hasDbXref UMLS:C1424655 ; oboInOwl:hasExactSynonym "RBM17", "rna-binding motif protein 17", "splicing factor, 45-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84991 ; - skos:exactMatch HGNC_symbol:RBM17 ; + skos:exactMatch UMLS:C1424655, + HGNC:16944, + HGNC_symbol:RBM17 ; biolink:category biolink:Gene . OMIM:606936 a owl:Class ; @@ -229347,12 +237585,13 @@ OMIM:606936 a owl:Class ; PMID:897853 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:604559 ; - oboInOwl:hasDbXref UMLS:C1425223 ; oboInOwl:hasExactSynonym "TRPM4", "transient receptor potential cation channel, subfamily m, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54795 ; - skos:exactMatch HGNC_symbol:TRPM4 ; + skos:exactMatch UMLS:C1425223, + HGNC:17993, + HGNC_symbol:TRPM4 ; biolink:category biolink:Gene . OMIM:606937 a owl:Class ; @@ -229383,13 +237622,14 @@ OMIM:606938 a owl:Class ; PMID:9834209 ; RO:0002525 CHR:9606chr10q26.2 ; RO:0003303 OMIM:263700 ; - oboInOwl:hasDbXref UMLS:C1421375 ; oboInOwl:hasExactSynonym "UROS", "uroiiis", "uroporphyrinogen 3 synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7390 ; - skos:exactMatch HGNC_symbol:UROS ; + skos:exactMatch UMLS:C1421375, + HGNC:12592, + HGNC_symbol:UROS ; biolink:category biolink:Gene . OMIM:606939 a owl:Class ; @@ -229405,14 +237645,15 @@ OMIM:606939 a owl:Class ; PMID:7945239 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:616455 ; - oboInOwl:hasDbXref UMLS:C1412674 ; oboInOwl:hasExactSynonym "ATP6V1B2", "atp6b2", "atpase, h+ transporting, lysosomal, 56/58-kd, v1 subunit b, isoform 2", "vacuolar proton pump B isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:526 ; - skos:exactMatch HGNC_symbol:ATP6V1B2 ; + skos:exactMatch UMLS:C1412674, + HGNC:854, + HGNC_symbol:ATP6V1B2 ; biolink:category biolink:Gene . OMIM:606940 a owl:Class ; @@ -229421,13 +237662,14 @@ OMIM:606940 a owl:Class ; PMID:16946494 ; RO:0002525 CHR:9606chr8q21.13 ; RO:0003303 OMIM:178300 ; - oboInOwl:hasDbXref UMLS:C1538171 ; oboInOwl:hasExactSynonym "ZFHX4", "zfh4", "zinc finger homeobox 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79776 ; - skos:exactMatch HGNC_symbol:ZFHX4 ; + skos:exactMatch UMLS:C1538171, + HGNC:30939, + HGNC_symbol:ZFHX4 ; biolink:category biolink:Gene . OMIM:606941 a owl:Class ; @@ -229440,28 +237682,30 @@ OMIM:606941 a owl:Class ; PMID:9514593 ; RO:0002525 CHR:9606chr11q23.1 ; RO:0003303 OMIM:263210 ; - oboInOwl:hasDbXref UMLS:C1538263, - UMLS:C1849762, - UMLS:C2931006 ; oboInOwl:hasExactSynonym "ALG9", "alg9 alpha-1,2-mannosyltransferase", "alg9, s. cerevisiae, homolog of", "disrupted 1n bipolar disorder 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79796 ; - skos:exactMatch HGNC_symbol:ALG9 ; + skos:exactMatch UMLS:C1538263, + UMLS:C1849762, + UMLS:C2931006, + HGNC:15672, + HGNC_symbol:ALG9 ; biolink:category biolink:Gene . OMIM:606942 a owl:Class ; rdfs:label "COPE" ; IAO:0000142 PMID:10469566 ; - oboInOwl:hasDbXref UMLS:C1413608 ; oboInOwl:hasExactSynonym "COPE", "coatomer protein complex, subunit epsilon", "epsilon coat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11316 ; - skos:exactMatch HGNC_symbol:COPE ; + skos:exactMatch UMLS:C1413608, + HGNC:2234, + HGNC_symbol:COPE ; biolink:category biolink:Gene . OMIM:606944 a owl:Class ; @@ -229470,14 +237714,15 @@ OMIM:606944 a owl:Class ; PMID:11279080, PMID:11375975, PMID:24812403 ; - oboInOwl:hasDbXref UMLS:C1333352 ; oboInOwl:hasExactSynonym "ERBIN", "densin-180-like protein", "erbb2 interacting protein", "erbb2ip" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55914 ; - skos:exactMatch HGNC_symbol:ERBIN ; + skos:exactMatch UMLS:C1333352, + HGNC:15842, + HGNC_symbol:ERBIN ; biolink:category biolink:Gene . OMIM:606945 a owl:Class ; @@ -229622,12 +237867,13 @@ OMIM:606945 a owl:Class ; PMID:9853432 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:143890 ; - oboInOwl:hasDbXref UMLS:C1366529 ; oboInOwl:hasExactSynonym "LDLR", "low density lipoprotein receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3949 ; - skos:exactMatch HGNC_symbol:LDLR ; + skos:exactMatch UMLS:C1366529, + HGNC:6547, + HGNC_symbol:LDLR ; biolink:category biolink:Gene . OMIM:606946 a owl:Class ; @@ -229638,27 +237884,29 @@ OMIM:606946 a owl:Class ; PMID:16364912, PMID:31942069, PMID:9469815 ; - oboInOwl:hasDbXref UMLS:C1426586 ; oboInOwl:hasExactSynonym "ANAPC2", "anaphase-promoting complex, subunit 2", "apc2", "kiaa1406" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29882 ; - skos:exactMatch HGNC_symbol:ANAPC2 ; + skos:exactMatch UMLS:C1426586, + HGNC:19989, + HGNC_symbol:ANAPC2 ; biolink:category biolink:Gene . OMIM:606947 a owl:Class ; rdfs:label "ANAPC4" ; IAO:0000142 PMID:11179667, PMID:9469815 ; - oboInOwl:hasDbXref UMLS:C1426587 ; oboInOwl:hasExactSynonym "ANAPC4", "anaphase-promoting complex, subunit 4", "apc4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29945 ; - skos:exactMatch HGNC_symbol:ANAPC4 ; + skos:exactMatch UMLS:C1426587, + HGNC:19990, + HGNC_symbol:ANAPC4 ; biolink:category biolink:Gene . OMIM:606948 a owl:Class ; @@ -229666,13 +237914,14 @@ OMIM:606948 a owl:Class ; IAO:0000142 PMID:11179667, PMID:16319895, PMID:9469815 ; - oboInOwl:hasDbXref UMLS:C1423676 ; oboInOwl:hasExactSynonym "ANAPC5", "anaphase-promoting complex, subunit 5", "apc5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51433 ; - skos:exactMatch HGNC_symbol:ANAPC5 ; + skos:exactMatch UMLS:C1423676, + HGNC:15713, + HGNC_symbol:ANAPC5 ; biolink:category biolink:Gene . OMIM:606949 a owl:Class ; @@ -229682,25 +237931,27 @@ OMIM:606949 a owl:Class ; PMID:9469815 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:619699 ; - oboInOwl:hasDbXref UMLS:C1424948 ; oboInOwl:hasExactSynonym "ANAPC7", "anaphase-promoting complex, subunit 7", "apc7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51434 ; - skos:exactMatch HGNC_symbol:ANAPC7 ; + skos:exactMatch UMLS:C1424948, + HGNC:17380, + HGNC_symbol:ANAPC7 ; biolink:category biolink:Gene . OMIM:606950 a owl:Class ; rdfs:label "TRHDE" ; IAO:0000142 PMID:10491199 ; - oboInOwl:hasDbXref UMLS:C1823485 ; oboInOwl:hasExactSynonym "TRHDE", "thyrotropin-releasing hormone-degrading ectoenzyme", "trh-degrading ectoenzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29953 ; - skos:exactMatch HGNC_symbol:TRHDE ; + skos:exactMatch UMLS:C1823485, + HGNC:30748, + HGNC_symbol:TRHDE ; biolink:category biolink:Gene . OMIM:606951 a owl:Class ; @@ -229723,15 +237974,16 @@ OMIM:606951 a owl:Class ; PMID:31366715 ; RO:0002525 CHR:9606chr2q24.2 ; RO:0003303 OMIM:182250 ; - oboInOwl:hasDbXref UMLS:C1537399, - UMLS:C3888244, - UMLS:C4225427 ; oboInOwl:hasExactSynonym "IFIH1", "interferon-induced helicase c domain-containing protein 1", "melanoma differentiation-associated gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64135 ; - skos:exactMatch HGNC_symbol:IFIH1 ; + skos:exactMatch UMLS:C1537399, + UMLS:C3888244, + UMLS:C4225427, + HGNC:18873, + HGNC_symbol:IFIH1 ; biolink:category biolink:Gene . OMIM:606953 a owl:Class ; @@ -229751,26 +238003,28 @@ OMIM:606953 a owl:Class ; PMID:9973283 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:230350 ; - oboInOwl:hasDbXref UMLS:C0751161, - UMLS:C1439333, - UMLS:C4017048 ; oboInOwl:hasExactSynonym "GALE", "galactose epimerase", "udp-galactose-4-epimerase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2582 ; - skos:exactMatch HGNC_symbol:GALE ; + skos:exactMatch UMLS:C0751161, + UMLS:C1439333, + UMLS:C4017048, + HGNC:4116, + HGNC_symbol:GALE ; biolink:category biolink:Gene . OMIM:606954 a owl:Class ; rdfs:label "ZNF253" ; IAO:0000142 PMID:10585455 ; - oboInOwl:hasDbXref UMLS:C1422020 ; oboInOwl:hasExactSynonym "ZNF253", "zinc finger protein 253" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56242 ; - skos:exactMatch HGNC_symbol:ZNF253 ; + skos:exactMatch UMLS:C1422020, + HGNC:13497, + HGNC_symbol:ZNF253 ; biolink:category biolink:Gene . OMIM:606955 a owl:Class ; @@ -229780,23 +238034,25 @@ OMIM:606955 a owl:Class ; OMIM:606956 a owl:Class ; rdfs:label "ZNF256" ; IAO:0000142 PMID:10585455 ; - oboInOwl:hasDbXref UMLS:C1421743 ; oboInOwl:hasExactSynonym "ZNF256", "zinc finger protein 256" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10172 ; - skos:exactMatch HGNC_symbol:ZNF256 ; + skos:exactMatch UMLS:C1421743, + HGNC:13049, + HGNC_symbol:ZNF256 ; biolink:category biolink:Gene . OMIM:606957 a owl:Class ; rdfs:label "ZNF257" ; IAO:0000142 PMID:10585455 ; - oboInOwl:hasDbXref UMLS:C1422021 ; oboInOwl:hasExactSynonym "ZNF257", "zinc finger protein 257" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113835 ; - skos:exactMatch HGNC_symbol:ZNF257 ; + skos:exactMatch UMLS:C1422021, + HGNC:13498, + HGNC_symbol:ZNF257 ; biolink:category biolink:Gene . OMIM:606958 a owl:Class ; @@ -229805,27 +238061,29 @@ OMIM:606958 a owl:Class ; PMID:11311936, PMID:11927608, PMID:11992120 ; - oboInOwl:hasDbXref UMLS:C1425695 ; oboInOwl:hasExactSynonym "MPP5", "membrane protein, palmitoylated 5", "protein associated with lin7 1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64398 ; - skos:exactMatch HGNC_symbol:PALS1 ; + skos:exactMatch UMLS:C1425695, + HGNC:18669, + HGNC_symbol:PALS1 ; biolink:category biolink:Gene . OMIM:606959 a owl:Class ; rdfs:label "MPP6" ; IAO:0000142 PMID:10753959, PMID:11311936 ; - oboInOwl:hasDbXref UMLS:C1425357 ; oboInOwl:hasExactSynonym "MPP6", "membrane protein, palmitoylated 6", "protein associated with lin7 2, mouse, homolog of", "veli-associated maguk 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51678 ; - skos:exactMatch HGNC_symbol:PALS2 ; + skos:exactMatch UMLS:C1425357, + HGNC:18167, + HGNC_symbol:PALS2 ; biolink:category biolink:Gene . OMIM:606961 a owl:Class ; @@ -229833,12 +238091,13 @@ OMIM:606961 a owl:Class ; IAO:0000142 PMID:25143393, PMID:7644498, PMID:9202023 ; - oboInOwl:hasDbXref UMLS:C1421484 ; oboInOwl:hasExactSynonym "WBP1", "ww domain-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23559 ; - skos:exactMatch HGNC_symbol:WBP1 ; + skos:exactMatch UMLS:C1421484, + HGNC:12737, + HGNC_symbol:WBP1 ; biolink:category biolink:Gene . OMIM:606962 a owl:Class ; @@ -229848,12 +238107,13 @@ OMIM:606962 a owl:Class ; PMID:9202023 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:617639 ; - oboInOwl:hasDbXref UMLS:C1421485 ; oboInOwl:hasExactSynonym "WBP2", "ww domain-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23558 ; - skos:exactMatch HGNC_symbol:WBP2 ; + skos:exactMatch UMLS:C1421485, + HGNC:12738, + HGNC_symbol:WBP2 ; biolink:category biolink:Gene . OMIM:606964 a owl:Class ; @@ -229861,14 +238121,15 @@ OMIM:606964 a owl:Class ; IAO:0000142 PMID:15037617, PMID:15067004, PMID:7761441 ; - oboInOwl:hasDbXref UMLS:C1425128 ; oboInOwl:hasExactSynonym "STK38", "ndr1", "nuclear dbf2-related protein", "serine/threonine protein kinase 38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11329 ; - skos:exactMatch HGNC_symbol:STK38 ; + skos:exactMatch UMLS:C1425128, + HGNC:17847, + HGNC_symbol:STK38 ; biolink:category biolink:Gene . OMIM:606965 a owl:Class ; @@ -229877,13 +238138,14 @@ OMIM:606965 a owl:Class ; PMID:15572676, PMID:20869947, PMID:7544399 ; - oboInOwl:hasDbXref UMLS:C1366532 ; oboInOwl:hasExactSynonym "FASTK", "fas-activated serine/threonine kinase", "fast" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10922 ; - skos:exactMatch HGNC_symbol:FASTK ; + skos:exactMatch UMLS:C1366532, + HGNC:24676, + HGNC_symbol:FASTK ; biolink:category biolink:Gene . OMIM:606966 a owl:Class ; @@ -229892,11 +238154,11 @@ OMIM:606966 a owl:Class ; PMID:11920287, PMID:12244321, PMID:7072145 ; - oboInOwl:hasDbXref UMLS:C1847013 ; oboInOwl:hasExactSynonym "NPHP4", "nephronophthisis 4", "nephronophthisis 4, juvenile" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C1847013 ; biolink:category biolink:Disease . OMIM:606967 a owl:Class ; @@ -229927,12 +238189,13 @@ OMIM:606967 a owl:Class ; PMID:8755645 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:245900 ; - oboInOwl:hasDbXref UMLS:C1416804 ; oboInOwl:hasExactSynonym "LCAT", "lecithin:cholesterol acyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3931 ; - skos:exactMatch HGNC_symbol:LCAT ; + skos:exactMatch UMLS:C1416804, + HGNC:6522, + HGNC_symbol:LCAT ; biolink:category biolink:Gene . OMIM:606968 a owl:Class ; @@ -229940,13 +238203,14 @@ OMIM:606968 a owl:Class ; IAO:0000142 PMID:12051769, PMID:21677641, PMID:9144159 ; - oboInOwl:hasDbXref UMLS:C1539329 ; oboInOwl:hasExactSynonym "EEF2K", "calmodulin-dependent protein kinase 3", "eukaryotic elongation factor 2 kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29904 ; - skos:exactMatch HGNC_symbol:EEF2K ; + skos:exactMatch UMLS:C1539329, + HGNC:24615, + HGNC_symbol:EEF2K ; biolink:category biolink:Gene . OMIM:606969 a owl:Class ; @@ -229958,14 +238222,15 @@ OMIM:606969 a owl:Class ; PMID:30237576 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:617913 ; - oboInOwl:hasDbXref UMLS:C1423680, - UMLS:C4693567 ; oboInOwl:hasExactSynonym "GEMIN4", "gem nuclear organelle-associated protein 4", "gem-associated protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50628 ; - skos:exactMatch HGNC_symbol:GEMIN4 ; + skos:exactMatch UMLS:C1423680, + UMLS:C4693567, + HGNC:15717, + HGNC_symbol:GEMIN4 ; biolink:category biolink:Gene . OMIM:606970 a owl:Class ; @@ -229985,14 +238250,15 @@ OMIM:606973 a owl:Class ; PMID:9927668 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:611209 ; - oboInOwl:hasDbXref UMLS:C1416821 ; oboInOwl:hasExactSynonym "COG1", "component of oligomeric golgi complex 1", "kiaa1381", "low density lipoprotein receptor defect b-complementing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9382 ; - skos:exactMatch HGNC_symbol:COG1 ; + skos:exactMatch UMLS:C1416821, + HGNC:6545, + HGNC_symbol:COG1 ; biolink:category biolink:Gene . OMIM:606974 a owl:Class ; @@ -230002,26 +238268,28 @@ OMIM:606974 a owl:Class ; PMID:7962052 ; RO:0002525 CHR:9606chr1q42.2 ; RO:0003303 OMIM:617395 ; - oboInOwl:hasDbXref UMLS:C1416822 ; oboInOwl:hasExactSynonym "COG2", "component of oligomeric golgi complex 2", "low density lipoprotein receptor defect c-complementing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22796 ; - skos:exactMatch HGNC_symbol:COG2 ; + skos:exactMatch UMLS:C1416822, + HGNC:6546, + HGNC_symbol:COG2 ; biolink:category biolink:Gene . OMIM:606975 a owl:Class ; rdfs:label "COG3" ; IAO:0000142 PMID:11292827, PMID:11980916 ; - oboInOwl:hasDbXref UMLS:C1425651 ; oboInOwl:hasExactSynonym "COG3", "component of oligomeric golgi complex 3", "sec34, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83548 ; - skos:exactMatch HGNC_symbol:COG3 ; + skos:exactMatch UMLS:C1425651, + HGNC:18619, + HGNC_symbol:COG3 ; biolink:category biolink:Gene . OMIM:606976 a owl:Class ; @@ -230038,13 +238306,14 @@ OMIM:606976 a owl:Class ; PMID:8074143 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:618150 ; - oboInOwl:hasDbXref UMLS:C1425652 ; oboInOwl:hasExactSynonym "COG4", "cod1, s. cerevisiae, homolog of", "component of oligomeric golgi complex 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25839 ; - skos:exactMatch HGNC_symbol:COG4 ; + skos:exactMatch UMLS:C1425652, + HGNC:18620, + HGNC_symbol:COG4 ; biolink:category biolink:Gene . OMIM:606977 a owl:Class ; @@ -230060,14 +238329,15 @@ OMIM:606977 a owl:Class ; PMID:26260076 ; RO:0002525 CHR:9606chr13q14.11 ; RO:0003303 OMIM:615328 ; - oboInOwl:hasDbXref UMLS:C1425653 ; oboInOwl:hasExactSynonym "COG6", "cod2, s. cerevisiae, homolog of", "component of oligomeric golgi complex 6", "kiaa1134" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57511 ; - skos:exactMatch HGNC_symbol:COG6 ; + skos:exactMatch UMLS:C1425653, + HGNC:18621, + HGNC_symbol:COG6 ; biolink:category biolink:Gene . OMIM:606978 a owl:Class ; @@ -230079,12 +238349,13 @@ OMIM:606978 a owl:Class ; PMID:19577670 ; RO:0002525 CHR:9606chr16p12.2 ; RO:0003303 OMIM:608779 ; - oboInOwl:hasDbXref UMLS:C1425654 ; oboInOwl:hasExactSynonym "COG7", "component of oligomeric golgi complex 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91949 ; - skos:exactMatch HGNC_symbol:COG7 ; + skos:exactMatch UMLS:C1425654, + HGNC:18622, + HGNC_symbol:COG7 ; biolink:category biolink:Gene . OMIM:606979 a owl:Class ; @@ -230096,14 +238367,15 @@ OMIM:606979 a owl:Class ; PMID:30690882 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:611182 ; - oboInOwl:hasDbXref UMLS:C1425655, - UMLS:C1970021 ; oboInOwl:hasExactSynonym "COG8", "component of oligomeric golgi complex 8", "dor1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84342 ; - skos:exactMatch HGNC_symbol:COG8 ; + skos:exactMatch UMLS:C1425655, + UMLS:C1970021, + HGNC:18623, + HGNC_symbol:COG8 ; biolink:category biolink:Gene . OMIM:606980 a owl:Class ; @@ -230117,8 +238389,6 @@ OMIM:606980 a owl:Class ; PMID:32337771 ; RO:0002525 CHR:9606chr1q42.13 ; RO:0003303 OMIM:612016 ; - oboInOwl:hasDbXref UMLS:C1424564, - UMLS:C2677589 ; oboInOwl:hasExactSynonym "COQ8A", "aarf domain-containing kinase 3", "chaperone-activity of bc1 complex-like", @@ -230126,7 +238396,10 @@ OMIM:606980 a owl:Class ; "coq8, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56997 ; - skos:exactMatch HGNC_symbol:COQ8A ; + skos:exactMatch UMLS:C1424564, + UMLS:C2677589, + HGNC:16812, + HGNC_symbol:COQ8A ; biolink:category biolink:Gene . OMIM:606981 a owl:Class ; @@ -230135,14 +238408,15 @@ OMIM:606981 a owl:Class ; PMID:10833460, PMID:11483580, PMID:12853961 ; - oboInOwl:hasDbXref UMLS:C1415155 ; oboInOwl:hasExactSynonym "GNG2", "g protein gamma-2 subunit", "guanine nucleotide-binding protein g(i)/g(o)", "guanine nucleotide-binding protein, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54331 ; - skos:exactMatch HGNC_symbol:GNG2 ; + skos:exactMatch UMLS:C1415155, + HGNC:4404, + HGNC_symbol:GNG2 ; biolink:category biolink:Gene . OMIM:606982 a owl:Class ; @@ -230155,13 +238429,14 @@ OMIM:606982 a owl:Class ; PMID:9741684 ; RO:0002525 CHR:9606chr1q42.3 ; RO:0003303 OMIM:619518 ; - oboInOwl:hasDbXref UMLS:C1415052 ; oboInOwl:hasExactSynonym "GGPS1", "geranylgeranyl diphosphate synthase 1", "ggpps" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9453 ; - skos:exactMatch HGNC_symbol:GGPS1 ; + skos:exactMatch UMLS:C1415052, + HGNC:4249, + HGNC_symbol:GGPS1 ; biolink:category biolink:Gene . OMIM:606983 a owl:Class ; @@ -230169,21 +238444,22 @@ OMIM:606983 a owl:Class ; IAO:0000142 PMID:11481335, PMID:15671038, PMID:26786738 ; - oboInOwl:hasDbXref UMLS:C1424651 ; oboInOwl:hasExactSynonym "DGAT2", "acyl-coa:diacylglycerol acyltransferase 2", "diacylglycerol o-acyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84649 ; - skos:exactMatch HGNC_symbol:DGAT2 ; + skos:exactMatch UMLS:C1424651, + HGNC:16940, + HGNC_symbol:DGAT2 ; biolink:category biolink:Gene . OMIM:606984 a owl:Class ; rdfs:label "hyperreninemic hypoaldosteronism, familial, 2" ; IAO:0000142 PMID:11701710 ; - oboInOwl:hasDbXref UMLS:C1846990 ; oboInOwl:hasExactSynonym "fhha2", "hyperreninemic hypoaldosteronism, familial, 2" ; + skos:exactMatch UMLS:C1846990 ; biolink:category biolink:Disease . OMIM:606985 a owl:Class ; @@ -230194,8 +238470,6 @@ OMIM:606985 a owl:Class ; PMID:24290376 ; RO:0002525 CHR:9606chr11p13 ; RO:0003303 OMIM:617141 ; - oboInOwl:hasDbXref UMLS:C1412870, - UMLS:C4284070 ; oboInOwl:hasExactSynonym "ELP4", "cis-regulatory element simo", "elongation protein 4, s. cerevisiae, homolog of", @@ -230203,7 +238477,10 @@ OMIM:606985 a owl:Class ; "pax6 neighbor gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26610 ; - skos:exactMatch HGNC_symbol:ELP4 ; + skos:exactMatch UMLS:C1412870, + UMLS:C4284070, + HGNC:1171, + HGNC_symbol:ELP4 ; biolink:category biolink:Gene . OMIM:606986 a owl:Class ; @@ -230214,13 +238491,14 @@ OMIM:606987 a owl:Class ; rdfs:label "GRK7" ; IAO:0000142 PMID:11717351, PMID:11754336 ; - oboInOwl:hasDbXref UMLS:C1333701 ; oboInOwl:hasExactSynonym "GRK7", "g protein-coupled receptor kinase 7", "gprk7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131890 ; - skos:exactMatch HGNC_symbol:GRK7 ; + skos:exactMatch UMLS:C1333701, + HGNC:17031, + HGNC_symbol:GRK7 ; biolink:category biolink:Gene . OMIM:606988 a owl:Class ; @@ -230231,7 +238509,6 @@ OMIM:606988 a owl:Class ; PMID:8901634 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:618438 ; - oboInOwl:hasDbXref UMLS:C1846989 ; oboInOwl:hasExactSynonym "CHP1", "calcineurin B homologous protein", "calcineurin-like ef-hand protein 1", @@ -230240,7 +238517,9 @@ OMIM:606988 a owl:Class ; "slc9a1 binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11261 ; - skos:exactMatch HGNC_symbol:CHP1 ; + skos:exactMatch UMLS:C1846989, + HGNC:17433, + HGNC_symbol:CHP1 ; biolink:category biolink:Gene . OMIM:606989 a owl:Class ; @@ -230282,15 +238561,16 @@ OMIM:606989 a owl:Class ; PMID:9354683, PMID:9637725 ; RO:0002525 CHR:9606chr17q22 ; - oboInOwl:hasDbXref UMLS:C0398595, - UMLS:C1417245, - UMLS:C1856170, - UMLS:C1969821 ; oboInOwl:hasExactSynonym "MPO", "myeloperoxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4353 ; - skos:exactMatch HGNC_symbol:MPO ; + skos:exactMatch UMLS:C0398595, + UMLS:C1417245, + UMLS:C1856170, + UMLS:C1969821, + HGNC:7218, + HGNC_symbol:MPO ; biolink:category biolink:Gene . OMIM:606990 a owl:Class ; @@ -230301,14 +238581,15 @@ OMIM:606990 a owl:Class ; PMID:9858824 ; RO:0002525 CHR:9606chr3q23 ; RO:0003303 OMIM:617800 ; - oboInOwl:hasDbXref UMLS:C1413607 ; oboInOwl:hasExactSynonym "COPB2", "beta-2 coat protein", "beta-prime cop", "coatomer protein complex, subunit beta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9276 ; - skos:exactMatch HGNC_symbol:COPB2 ; + skos:exactMatch UMLS:C1413607, + HGNC:2232, + HGNC_symbol:COPB2 ; biolink:category biolink:Gene . OMIM:606991 a owl:Class ; @@ -230320,14 +238601,15 @@ OMIM:606991 a owl:Class ; PMID:18268345, PMID:21145457, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1425471 ; oboInOwl:hasExactSynonym "IHPK1", "inositol hexaphosphate kinase 1", "ip6k1", "kiaa0263" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9807 ; - skos:exactMatch HGNC_symbol:IP6K1 ; + skos:exactMatch UMLS:C1425471, + HGNC:18360, + HGNC_symbol:IP6K1 ; biolink:category biolink:Gene . OMIM:606992 a owl:Class ; @@ -230337,25 +238619,27 @@ OMIM:606992 a owl:Class ; PMID:11896621, PMID:18033884, PMID:18195352 ; - oboInOwl:hasDbXref UMLS:C1424894 ; oboInOwl:hasExactSynonym "IHPK2", "inositol hexaphosphate kinase 2", "ip6k2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51447 ; - skos:exactMatch HGNC_symbol:IP6K2 ; + skos:exactMatch UMLS:C1424894, + HGNC:17313, + HGNC_symbol:IP6K2 ; biolink:category biolink:Gene . OMIM:606993 a owl:Class ; rdfs:label "IHPK3" ; IAO:0000142 PMID:11502751 ; - oboInOwl:hasDbXref UMLS:C1424861 ; oboInOwl:hasExactSynonym "IHPK3", "inositol hexaphosphate kinase 3", "insp6k3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117283 ; - skos:exactMatch HGNC_symbol:IP6K3 ; + skos:exactMatch UMLS:C1424861, + HGNC:17269, + HGNC_symbol:IP6K3 ; biolink:category biolink:Gene . OMIM:606994 a owl:Class ; @@ -230364,13 +238648,14 @@ OMIM:606994 a owl:Class ; PMID:16750431, PMID:23686771, PMID:8497321 ; - oboInOwl:hasDbXref UMLS:C1540033 ; oboInOwl:hasExactSynonym "TNK2", "activated p21cdc42 kinase", "tyrosine kinase, nonreceptor, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10188 ; - skos:exactMatch HGNC_symbol:TNK2 ; + skos:exactMatch UMLS:C1540033, + HGNC:19297, + HGNC_symbol:TNK2 ; biolink:category biolink:Gene . OMIM:606997 a owl:Class ; @@ -230380,14 +238665,15 @@ OMIM:606997 a owl:Class ; PMID:9405624, PMID:9469821, PMID:9852280 ; - oboInOwl:hasDbXref UMLS:C1846978 ; oboInOwl:hasExactSynonym "C1D", "c1d nuclear receptor corepressor", "nuclear dna-binding protein c1d", "small unique nuclear receptor corepressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10438 ; - skos:exactMatch HGNC_symbol:C1D ; + skos:exactMatch UMLS:C1846978, + HGNC:29911, + HGNC_symbol:C1D ; biolink:category biolink:Gene . OMIM:606998 a owl:Class ; @@ -230397,12 +238683,13 @@ OMIM:606998 a owl:Class ; PMID:15713644, PMID:21187433, PMID:9153235 ; - oboInOwl:hasDbXref UMLS:C1414638 ; oboInOwl:hasExactSynonym "FLOT1", "flotillin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10211 ; - skos:exactMatch HGNC_symbol:FLOT1 ; + skos:exactMatch UMLS:C1414638, + HGNC:3757, + HGNC_symbol:FLOT1 ; biolink:category biolink:Gene . OMIM:606999 a owl:Class ; @@ -230451,18 +238738,19 @@ OMIM:606999 a owl:Class ; PMID:9632650 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:230400 ; - oboInOwl:hasDbXref UMLS:C0268151, - UMLS:C1414962, - UMLS:C3278146, - UMLS:C4017050, - UMLS:C4017051, - UMLS:C4017052 ; oboInOwl:hasExactSynonym "GALT", "galactose-1-phosphate uridylyltransferase", "galt/il11ra spliced read-through transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2592 ; - skos:exactMatch HGNC_symbol:GALT ; + skos:exactMatch UMLS:C0268151, + UMLS:C1414962, + UMLS:C3278146, + UMLS:C4017050, + UMLS:C4017051, + UMLS:C4017052, + HGNC:4135, + HGNC_symbol:GALT ; biolink:category biolink:Gene . OMIM:607000 a owl:Class ; @@ -230471,7 +238759,6 @@ OMIM:607000 a owl:Class ; PMID:31695196, PMID:8590280, PMID:9653119 ; - oboInOwl:hasDbXref UMLS:C1427816 ; oboInOwl:hasExactSynonym "MED24", "kiaa0130", "mediator complex subunit 24", @@ -230479,7 +238766,9 @@ OMIM:607000 a owl:Class ; "thyroid hormone receptor-associated protein, 100-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9862 ; - skos:exactMatch HGNC_symbol:MED24 ; + skos:exactMatch UMLS:C1427816, + HGNC:22963, + HGNC_symbol:MED24 ; biolink:category biolink:Gene . OMIM:607001 a owl:Class ; @@ -230494,15 +238783,16 @@ OMIM:607001 a owl:Class ; PMID:32103178 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:610253 ; - oboInOwl:hasDbXref UMLS:C0795833, - UMLS:C1539338 ; oboInOwl:hasExactSynonym "EHMT1", "euchromatic histone methyltransferase 1", "euhmtase1", "g9a-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79813 ; - skos:exactMatch HGNC_symbol:EHMT1 ; + skos:exactMatch UMLS:C0795833, + UMLS:C1539338, + HGNC:24650, + HGNC_symbol:EHMT1 ; biolink:category biolink:Gene . OMIM:607002 a owl:Class ; @@ -230520,14 +238810,15 @@ OMIM:607002 a owl:Class ; PMID:22927827 ; RO:0002525 CHR:9606chr3p13 ; RO:0003303 OMIM:610628 ; - oboInOwl:hasDbXref UMLS:C1425527 ; oboInOwl:hasExactSynonym "PROK2", "bv8", "pk2", "prokineticin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60675 ; - skos:exactMatch HGNC_symbol:PROK2 ; + skos:exactMatch UMLS:C1425527, + HGNC:18455, + HGNC_symbol:PROK2 ; biolink:category biolink:Gene . OMIM:607003 a owl:Class ; @@ -230540,12 +238831,13 @@ OMIM:607003 a owl:Class ; PMID:18711124, PMID:21841801, PMID:24094650 ; - oboInOwl:hasDbXref UMLS:C1336681 ; oboInOwl:hasExactSynonym "TSLP", "thymic stromal lymphopoietin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85480 ; - skos:exactMatch HGNC_symbol:TSLP ; + skos:exactMatch UMLS:C1336681, + HGNC:30743, + HGNC_symbol:TSLP ; biolink:category biolink:Gene . OMIM:607005 a owl:Class ; @@ -230555,13 +238847,14 @@ OMIM:607005 a owl:Class ; PMID:33963192 ; RO:0002525 CHR:9606chr5q33.2 ; RO:0003303 OMIM:619333 ; - oboInOwl:hasDbXref UMLS:C1426633 ; oboInOwl:hasExactSynonym "GEMIN5", "gem nuclear organelle-associated protein 5", "gem-associated protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25929 ; - skos:exactMatch HGNC_symbol:GEMIN5 ; + skos:exactMatch UMLS:C1426633, + HGNC:20043, + HGNC_symbol:GEMIN5 ; biolink:category biolink:Gene . OMIM:607006 a owl:Class ; @@ -230569,13 +238862,14 @@ OMIM:607006 a owl:Class ; IAO:0000142 PMID:11748230, PMID:16434402, PMID:17023415 ; - oboInOwl:hasDbXref UMLS:C1426634 ; oboInOwl:hasExactSynonym "GEMIN6", "gem nuclear organelle-associated protein 6", "gem-associated protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79833 ; - skos:exactMatch HGNC_symbol:GEMIN6 ; + skos:exactMatch UMLS:C1426634, + HGNC:20044, + HGNC_symbol:GEMIN6 ; biolink:category biolink:Gene . OMIM:607007 a owl:Class ; @@ -230583,7 +238877,6 @@ OMIM:607007 a owl:Class ; IAO:0000142 PMID:10195194, PMID:15102850, PMID:25898167 ; - oboInOwl:hasDbXref UMLS:C1424777 ; oboInOwl:hasExactSynonym "SNAPIN", "biogenesis of lysosome-related organelles complex 1, subunit 7", "bloc1, subunit 7", @@ -230591,7 +238884,9 @@ OMIM:607007 a owl:Class ; "snare-associated protein snapin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23557 ; - skos:exactMatch HGNC_symbol:SNAPIN ; + skos:exactMatch UMLS:C1424777, + HGNC:17145, + HGNC_symbol:SNAPIN ; biolink:category biolink:Gene . OMIM:607008 a owl:Class ; @@ -230643,15 +238938,16 @@ OMIM:607008 a owl:Class ; PMID:9882619 ; RO:0002525 CHR:9606chr1p31.1 ; RO:0003303 OMIM:201450 ; - oboInOwl:hasDbXref UMLS:C0220710, - UMLS:C1412107, - UMLS:C4017054 ; oboInOwl:hasExactSynonym "ACADM", "acyl-coa dehydrogenase, medium-chain", "medium-chain acyl-coa dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:34 ; - skos:exactMatch HGNC_symbol:ACADM ; + skos:exactMatch UMLS:C0220710, + UMLS:C1412107, + UMLS:C4017054, + HGNC:89, + HGNC_symbol:ACADM ; biolink:category biolink:Gene . OMIM:607009 a owl:Class ; @@ -230665,14 +238961,15 @@ OMIM:607009 a owl:Class ; PMID:9285786 ; RO:0002525 CHR:9606chr9q21.13 ; RO:0003303 OMIM:602014 ; - oboInOwl:hasDbXref UMLS:C1425225 ; oboInOwl:hasExactSynonym "TRPM6", "channel kinase 2", "melastatin-related trp cation channel 6", "transient receptor potential cation channel, subfamily m, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140803 ; - skos:exactMatch HGNC_symbol:TRPM6 ; + skos:exactMatch UMLS:C1425225, + HGNC:17995, + HGNC_symbol:TRPM6 ; biolink:category biolink:Gene . OMIM:607010 a owl:Class ; @@ -230680,7 +238977,6 @@ OMIM:607010 a owl:Class ; IAO:0000142 PMID:11836524, PMID:12417715, PMID:16364915 ; - oboInOwl:hasDbXref UMLS:C1539225 ; oboInOwl:hasExactSynonym "DCP1A", "dcp1, s. cerevisiae, homolog of, a", "decapping enzyme 1, s. cerevisiae, homolog of, a", @@ -230688,7 +238984,9 @@ OMIM:607010 a owl:Class ; "smad4-interacting transcription factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55802 ; - skos:exactMatch HGNC_symbol:DCP1A ; + skos:exactMatch UMLS:C1539225, + HGNC:18714, + HGNC_symbol:DCP1A ; biolink:category biolink:Gene . OMIM:607011 a owl:Class ; @@ -230696,12 +238994,13 @@ OMIM:607011 a owl:Class ; IAO:0000142 PMID:10936051, PMID:11941478, PMID:9806828 ; - oboInOwl:hasDbXref UMLS:C1421394 ; oboInOwl:hasExactSynonym "USP17", "ubiquitin-specific protease 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391627 ; - skos:exactMatch HGNC_symbol:USP17L9P ; + skos:exactMatch UMLS:C1421394, + HGNC:12615, + HGNC_symbol:USP17L9P ; biolink:category biolink:Gene . OMIM:607012 a owl:Class ; @@ -230713,14 +239012,15 @@ OMIM:607012 a owl:Class ; PMID:28743884 ; RO:0002525 CHR:9606chr5q13.2 ; RO:0003303 OMIM:618257 ; - oboInOwl:hasDbXref UMLS:C1332409 ; oboInOwl:hasExactSynonym "BDP1", "b-double prime 1, subunit of RNA polymerase 3 transcription initiation factor 3b", "kiaa1689", "transcription factor-like nuclear regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55814 ; - skos:exactMatch HGNC_symbol:BDP1 ; + skos:exactMatch UMLS:C1332409, + HGNC:13652, + HGNC_symbol:BDP1 ; biolink:category biolink:Gene . OMIM:607013 a owl:Class ; @@ -230728,14 +239028,15 @@ OMIM:607013 a owl:Class ; IAO:0000142 PMID:11040218, PMID:11121026, PMID:11564744 ; - oboInOwl:hasDbXref UMLS:C1332449 ; oboInOwl:hasExactSynonym "BRF2", "brf2 subunit of RNA polymerase 3 transcription initiation factor", "brfu", "transcription factor iib-related factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55290 ; - skos:exactMatch HGNC_symbol:BRF2 ; + skos:exactMatch UMLS:C1332449, + HGNC:17298, + HGNC_symbol:BRF2 ; biolink:category biolink:Gene . OMIM:607014 a owl:Class ; @@ -230819,10 +239120,10 @@ OMIM:607014 a owl:Class ; PMID:9427149, PMID:9516162, PMID:9660052 ; - oboInOwl:hasDbXref UMLS:C0086795 ; oboInOwl:hasExactSynonym "hurler syndrome", "mucopolysaccharidosis iia 1h" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0086795 ; biolink:category biolink:Disease . OMIM:607015 a owl:Class ; @@ -230849,10 +239150,10 @@ OMIM:607015 a owl:Class ; PMID:8912609, PMID:9391892, PMID:96404 ; - oboInOwl:hasDbXref UMLS:C0086431 ; oboInOwl:hasExactSynonym "hurler-scheie syndrome", "mucopolysaccharidosis iia ih/s" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0086431 ; biolink:category biolink:Disease . OMIM:607018 a owl:Class ; @@ -230863,7 +239164,6 @@ OMIM:607018 a owl:Class ; PMID:24273166, PMID:30792275, PMID:7534107 ; - oboInOwl:hasDbXref UMLS:C1425620 ; oboInOwl:hasExactSynonym "ADGRL2", "adhesion g protein-coupled receptor l2", "calcium-independent alpha-latrotoxin receptor 2", @@ -230873,18 +239173,21 @@ OMIM:607018 a owl:Class ; "lectomedin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23266 ; - skos:exactMatch HGNC_symbol:ADGRL2 ; + skos:exactMatch UMLS:C1425620, + HGNC:18582, + HGNC_symbol:ADGRL2 ; biolink:category biolink:Gene . OMIM:607019 a owl:Class ; rdfs:label "RASSF3" ; IAO:0000142 PMID:11965544 ; - oboInOwl:hasDbXref UMLS:C1422531 ; oboInOwl:hasExactSynonym "RASSF3", "ras association domain family protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283349 ; - skos:exactMatch HGNC_symbol:RASSF3 ; + skos:exactMatch UMLS:C1422531, + HGNC:14271, + HGNC_symbol:RASSF3 ; biolink:category biolink:Gene . OMIM:607020 a owl:Class ; @@ -230894,14 +239197,15 @@ OMIM:607020 a owl:Class ; PMID:12845325, PMID:15361866, PMID:21194982 ; - oboInOwl:hasDbXref UMLS:C1425011 ; oboInOwl:hasExactSynonym "RASSF5", "nore1, mouse, homolog of", "ras association domain family protein 5", "regulator for cell adhesion and polarization enriched 1n lymphoid tissue" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83593 ; - skos:exactMatch HGNC_symbol:RASSF5 ; + skos:exactMatch UMLS:C1425011, + HGNC:17609, + HGNC_symbol:RASSF5 ; biolink:category biolink:Gene . OMIM:607021 a owl:Class ; @@ -230910,14 +239214,15 @@ OMIM:607021 a owl:Class ; PMID:11175339, PMID:11992124, PMID:16814779 ; - oboInOwl:hasDbXref UMLS:C1419975 ; oboInOwl:hasExactSynonym "SEZ6L", "brain-specific receptor-like protein B", "sez6-like protein", "sez6l1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23544 ; - skos:exactMatch HGNC_symbol:SEZ6L ; + skos:exactMatch UMLS:C1419975, + HGNC:10763, + HGNC_symbol:SEZ6L ; biolink:category biolink:Gene . OMIM:607022 a owl:Class ; @@ -230928,25 +239233,27 @@ OMIM:607022 a owl:Class ; PMID:18195709, PMID:26169830, PMID:31391581 ; - oboInOwl:hasDbXref UMLS:C1424110 ; oboInOwl:hasExactSynonym "CTCFL", "brother of the regulator of imprinted sites", "ccctc-binding factor-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140690 ; - skos:exactMatch HGNC_symbol:CTCFL ; + skos:exactMatch UMLS:C1424110, + HGNC:16234, + HGNC_symbol:CTCFL ; biolink:category biolink:Gene . OMIM:607023 a owl:Class ; rdfs:label "PLK2" ; IAO:0000142 PMID:11696980 ; - oboInOwl:hasDbXref UMLS:C1426344 ; oboInOwl:hasExactSynonym "PLK2", "polo-like kinase 2", "serum-inducible kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10769 ; - skos:exactMatch HGNC_symbol:PLK2 ; + skos:exactMatch UMLS:C1426344, + HGNC:19699, + HGNC_symbol:PLK2 ; biolink:category biolink:Gene . OMIM:607024 a owl:Class ; @@ -230956,13 +239263,14 @@ OMIM:607024 a owl:Class ; PMID:29474921 ; RO:0002525 CHR:9606chr3q22.3 ; RO:0003303 OMIM:619441 ; - oboInOwl:hasDbXref UMLS:C1423603 ; oboInOwl:hasExactSynonym "DBR1", "debranching RNA lariats 1", "debranching enzyme 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51163 ; - skos:exactMatch HGNC_symbol:DBR1 ; + skos:exactMatch UMLS:C1423603, + HGNC:15594, + HGNC_symbol:DBR1 ; biolink:category biolink:Gene . OMIM:607025 a owl:Class ; @@ -230970,14 +239278,15 @@ OMIM:607025 a owl:Class ; IAO:0000142 PMID:23851392, PMID:8724849, PMID:9136115 ; - oboInOwl:hasDbXref UMLS:C1424606 ; oboInOwl:hasExactSynonym "MELK", "hpk38", "kiaa0175", "maternal embryonic leucine zipper kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9833 ; - skos:exactMatch HGNC_symbol:MELK ; + skos:exactMatch UMLS:C1424606, + HGNC:16870, + HGNC_symbol:MELK ; biolink:category biolink:Gene . OMIM:607026 a owl:Class ; @@ -230986,7 +239295,6 @@ OMIM:607026 a owl:Class ; PMID:11904404, PMID:12062803, PMID:12079279 ; - oboInOwl:hasDbXref UMLS:C1423897 ; oboInOwl:hasExactSynonym "NAV2", "kiaa1419", "neuron navigator 2", @@ -230995,7 +239303,9 @@ OMIM:607026 a owl:Class ; "unc53, c. elegans, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89797 ; - skos:exactMatch HGNC_symbol:NAV2 ; + skos:exactMatch UMLS:C1423897, + HGNC:15997, + HGNC_symbol:NAV2 ; biolink:category biolink:Gene . OMIM:607027 a owl:Class ; @@ -231009,9 +239319,6 @@ OMIM:607027 a owl:Class ; PMID:8463241 ; RO:0002525 CHR:9606chr3q13.31 ; RO:0003303 OMIM:618012 ; - oboInOwl:hasDbXref UMLS:C1412672, - UMLS:C4479409, - UMLS:C4693934 ; oboInOwl:hasExactSynonym "ATP6V1A", "atp6v1a1", "atpase, h+ transporting, lysosomal, 70-kd, 6 subunit a", @@ -231021,45 +239328,52 @@ OMIM:607027 a owl:Class ; "vacuolar proton pump, alpha subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:523 ; - skos:exactMatch HGNC_symbol:ATP6V1A ; + skos:exactMatch UMLS:C1412672, + UMLS:C4479409, + UMLS:C4693934, + HGNC:851, + HGNC_symbol:ATP6V1A ; biolink:category biolink:Gene . OMIM:607028 a owl:Class ; rdfs:label "ATP6V0D1" ; IAO:0000142 PMID:11118322, PMID:20093472 ; - oboInOwl:hasDbXref UMLS:C1422164 ; oboInOwl:hasExactSynonym "ATP6V0D1", "atpase, h+ transporting, lysosomal, 38-kd, v0 subunit d, isoform 1", "v-atpase, subunit d", "vacuolar proton pump, v0 subunit d, isoform 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9114 ; - skos:exactMatch HGNC_symbol:ATP6V0D1 ; + skos:exactMatch UMLS:C1422164, + HGNC:13724, + HGNC_symbol:ATP6V0D1 ; biolink:category biolink:Gene . OMIM:607029 a owl:Class ; rdfs:label "VAMP5" ; IAO:0000142 PMID:9725904 ; - oboInOwl:hasDbXref UMLS:C1421422 ; oboInOwl:hasExactSynonym "VAMP5", "myobrevin", "vesicle-associated membrane protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10791 ; - skos:exactMatch HGNC_symbol:VAMP5 ; + skos:exactMatch UMLS:C1421422, + HGNC:12646, + HGNC_symbol:VAMP5 ; biolink:category biolink:Gene . OMIM:607030 a owl:Class ; rdfs:label "GCA" ; IAO:0000142 PMID:1530588, PMID:1737748 ; - oboInOwl:hasDbXref UMLS:C1423891 ; oboInOwl:hasExactSynonym "GCA", "grancalcin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25801 ; - skos:exactMatch HGNC_symbol:GCA ; + skos:exactMatch UMLS:C1423891, + HGNC:15990, + HGNC_symbol:GCA ; biolink:category biolink:Gene . OMIM:607031 a owl:Class ; @@ -231070,12 +239384,13 @@ OMIM:607031 a owl:Class ; PMID:24334290 ; RO:0002525 CHR:9606chr4p14 ; RO:0003303 OMIM:614462 ; - oboInOwl:hasDbXref UMLS:C1424272 ; oboInOwl:hasExactSynonym "LIAS", "lipoic acid synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11019 ; - skos:exactMatch HGNC_symbol:LIAS ; + skos:exactMatch UMLS:C1424272, + HGNC:16429, + HGNC_symbol:LIAS ; biolink:category biolink:Gene . OMIM:607032 a owl:Class ; @@ -231087,7 +239402,6 @@ OMIM:607032 a owl:Class ; PMID:19417104, PMID:8524286, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1846919 ; oboInOwl:hasExactSynonym "SMG1", "kiaa0421", "lambda/iota protein kinase c-interacting protein", @@ -231096,7 +239410,9 @@ OMIM:607032 a owl:Class ; "smg1, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23049 ; - skos:exactMatch HGNC_symbol:SMG1 ; + skos:exactMatch UMLS:C1846919, + HGNC:30045, + HGNC_symbol:SMG1 ; biolink:category biolink:Gene . OMIM:607033 a owl:Class ; @@ -231106,7 +239422,6 @@ OMIM:607033 a owl:Class ; PMID:14574404, PMID:19417006, PMID:26464487 ; - oboInOwl:hasDbXref UMLS:C1424702 ; oboInOwl:hasExactSynonym "TFB1M", "cgi75", "dimethyladenosine transferase 1, mitochondrial", @@ -231115,7 +239430,9 @@ OMIM:607033 a owl:Class ; "transcription factor b1, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51106 ; - skos:exactMatch HGNC_symbol:TFB1M ; + skos:exactMatch UMLS:C1424702, + HGNC:17037, + HGNC_symbol:TFB1M ; biolink:category biolink:Gene . OMIM:607034 a owl:Class ; @@ -231140,7 +239457,6 @@ OMIM:607035 a owl:Class ; PMID:28965847 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:607174 ; - oboInOwl:hasDbXref UMLS:C1424302 ; oboInOwl:hasExactSynonym "SUFU", "sufu negative regulator of hedgehog signaling", "sufuh", @@ -231148,7 +239464,9 @@ OMIM:607035 a owl:Class ; "suppressor of fused, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51684 ; - skos:exactMatch HGNC_symbol:SUFU ; + skos:exactMatch UMLS:C1424302, + HGNC:16466, + HGNC_symbol:SUFU ; biolink:category biolink:Gene . OMIM:607036 a owl:Class ; @@ -231163,12 +239481,13 @@ OMIM:607036 a owl:Class ; PMID:8468053 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:243500 ; - oboInOwl:hasDbXref UMLS:C1416523 ; oboInOwl:hasExactSynonym "IVD", "isovaleryl-coa dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3712 ; - skos:exactMatch HGNC_symbol:IVD ; + skos:exactMatch UMLS:C1416523, + HGNC:6186, + HGNC_symbol:IVD ; biolink:category biolink:Gene . OMIM:607037 a owl:Class ; @@ -231180,13 +239499,14 @@ OMIM:607037 a owl:Class ; PMID:8188243 ; RO:0002525 CHR:9606chr3q27.2 ; RO:0003303 OMIM:615605 ; - oboInOwl:hasDbXref UMLS:C1414322 ; oboInOwl:hasExactSynonym "EHHADH", "enoyl-coa hydratase/3-hydroxyacyl coa dehydrogenase", "l-bifunctional protein, peroxisomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1962 ; - skos:exactMatch HGNC_symbol:EHHADH ; + skos:exactMatch UMLS:C1414322, + HGNC:3247, + HGNC_symbol:EHHADH ; biolink:category biolink:Gene . OMIM:607038 a owl:Class ; @@ -231196,12 +239516,13 @@ OMIM:607038 a owl:Class ; PMID:23173898 ; RO:0002525 CHR:9606chr16p12.2 ; RO:0003303 OMIM:607039 ; - oboInOwl:hasDbXref UMLS:C1424230 ; oboInOwl:hasExactSynonym "OTOA", "otoancorin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146183 ; - skos:exactMatch HGNC_symbol:OTOA ; + skos:exactMatch UMLS:C1424230, + HGNC:16378, + HGNC_symbol:OTOA ; biolink:category biolink:Gene . OMIM:607040 a owl:Class ; @@ -231217,13 +239538,14 @@ OMIM:607040 a owl:Class ; PMID:19710689 ; RO:0002525 CHR:9606chr16q12.1 ; RO:0003303 OMIM:117800 ; - oboInOwl:hasDbXref UMLS:C1422806 ; oboInOwl:hasExactSynonym "ABCC11", "atp-binding cassette, subfamily c, member 11", "multidrug resistance-associated protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85320 ; - skos:exactMatch HGNC_symbol:ABCC11 ; + skos:exactMatch UMLS:C1422806, + HGNC:14639, + HGNC_symbol:ABCC11 ; biolink:category biolink:Gene . OMIM:607041 a owl:Class ; @@ -231231,13 +239553,14 @@ OMIM:607041 a owl:Class ; IAO:0000142 PMID:11483364, PMID:11688999, PMID:12011458 ; - oboInOwl:hasDbXref UMLS:C1422807 ; oboInOwl:hasExactSynonym "ABCC12", "atp-binding cassette, subfamily c, member 12", "multidrug resistance-associated protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94160 ; - skos:exactMatch HGNC_symbol:ABCC12 ; + skos:exactMatch UMLS:C1422807, + HGNC:14640, + HGNC_symbol:ABCC12 ; biolink:category biolink:Gene . OMIM:607042 a owl:Class ; @@ -231278,16 +239601,17 @@ OMIM:607042 a owl:Class ; PMID:9949212 ; RO:0002525 CHR:9606chr16p12.1 ; RO:0003303 OMIM:204200 ; - oboInOwl:hasDbXref UMLS:C0751383, - UMLS:C1413495, - UMLS:C4017059 ; oboInOwl:hasExactSynonym "CLN3", "battenin", "cln3 gene", "cln3 lysosomal/endosomal transmembrane protein, battenin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1201 ; - skos:exactMatch HGNC_symbol:CLN3 ; + skos:exactMatch UMLS:C0751383, + UMLS:C1413495, + UMLS:C4017059, + HGNC:2074, + HGNC_symbol:CLN3 ; biolink:category biolink:Gene . OMIM:607043 a owl:Class ; @@ -231305,7 +239629,6 @@ OMIM:607043 a owl:Class ; PMID:24120361 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:614070 ; - oboInOwl:hasDbXref UMLS:C1540046 ; oboInOwl:hasExactSynonym "TRAF3IP2", "chromosome 6 open reading frame 4", "chromosome 6 open reading frame 5", @@ -231315,7 +239638,9 @@ OMIM:607043 a owl:Class ; "traf3-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10758 ; - skos:exactMatch HGNC_symbol:TRAF3IP2 ; + skos:exactMatch UMLS:C1540046, + HGNC:1343, + HGNC_symbol:TRAF3IP2 ; biolink:category biolink:Gene . OMIM:607044 a owl:Class ; @@ -231323,21 +239648,22 @@ OMIM:607044 a owl:Class ; IAO:0000142 PMID:11715039, PMID:12021786, PMID:9007237 ; - oboInOwl:hasDbXref UMLS:C1846888 ; oboInOwl:hasExactSynonym "t-box 24", - "tbx24" . + "tbx24" ; + skos:exactMatch UMLS:C1846888 . OMIM:607045 a owl:Class ; rdfs:label "RMST" ; IAO:0000142 PMID:12082533 ; - oboInOwl:hasDbXref UMLS:C1826836 ; oboInOwl:hasExactSynonym "RMST", "noncoding RNA 1n rhabdomyosarcoma", "noncoding RNA 54", "rhabdomyosarcoma 2-associated transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196475 ; - skos:exactMatch HGNC_symbol:RMST ; + skos:exactMatch UMLS:C1826836, + HGNC:29893, + HGNC_symbol:RMST ; biolink:category biolink:Gene . OMIM:607046 a owl:Class ; @@ -231345,13 +239671,14 @@ OMIM:607046 a owl:Class ; IAO:0000142 PMID:10900208, PMID:10982837, PMID:26404837 ; - oboInOwl:hasDbXref UMLS:C1425230 ; oboInOwl:hasExactSynonym "TOMM22", "translocase of outer mitochondrial membrane 22", "translocase of outer mitochondrial membrane 22, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56993 ; - skos:exactMatch HGNC_symbol:TOMM22 ; + skos:exactMatch UMLS:C1425230, + HGNC:18002, + HGNC_symbol:TOMM22 ; biolink:category biolink:Gene . OMIM:607047 a owl:Class ; @@ -231390,7 +239717,6 @@ OMIM:607047 a owl:Class ; PMID:9580663 ; RO:0002525 CHR:9606chr14q32.12 ; RO:0003303 OMIM:109150 ; - oboInOwl:hasDbXref UMLS:C1538301 ; oboInOwl:hasExactSynonym "ATXN3", "at3", "ataxin 3", @@ -231398,7 +239724,9 @@ OMIM:607047 a owl:Class ; "sca3 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4287 ; - skos:exactMatch HGNC_symbol:ATXN3 ; + skos:exactMatch UMLS:C1538301, + HGNC:7106, + HGNC_symbol:ATXN3 ; biolink:category biolink:Gene . OMIM:607048 a owl:Class ; @@ -231412,46 +239740,50 @@ OMIM:607048 a owl:Class ; PMID:9139840, PMID:9237999, PMID:9270027 ; - oboInOwl:hasDbXref UMLS:C1425002 ; oboInOwl:hasExactSynonym "STARD3", "metastatic lymph node 64", "start domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10948 ; - skos:exactMatch HGNC_symbol:STARD3 ; + skos:exactMatch UMLS:C1425002, + HGNC:17579, + HGNC_symbol:STARD3 ; biolink:category biolink:Gene . OMIM:607049 a owl:Class ; rdfs:label "STARD4" ; IAO:0000142 PMID:12011452 ; - oboInOwl:hasDbXref UMLS:C1425271 ; oboInOwl:hasExactSynonym "STARD4", "start domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134429 ; - skos:exactMatch HGNC_symbol:STARD4 ; + skos:exactMatch UMLS:C1425271, + HGNC:18058, + HGNC_symbol:STARD4 ; biolink:category biolink:Gene . OMIM:607050 a owl:Class ; rdfs:label "STARD5" ; IAO:0000142 PMID:12011452 ; - oboInOwl:hasDbXref UMLS:C1425276 ; oboInOwl:hasExactSynonym "STARD5", "start domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80765 ; - skos:exactMatch HGNC_symbol:STARD5 ; + skos:exactMatch UMLS:C1425276, + HGNC:18065, + HGNC_symbol:STARD5 ; biolink:category biolink:Gene . OMIM:607051 a owl:Class ; rdfs:label "STARD6" ; IAO:0000142 PMID:12011452 ; - oboInOwl:hasDbXref UMLS:C1425277 ; oboInOwl:hasExactSynonym "STARD6", "start domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147323 ; - skos:exactMatch HGNC_symbol:STARD6 ; + skos:exactMatch UMLS:C1425277, + HGNC:18066, + HGNC_symbol:STARD6 ; biolink:category biolink:Gene . OMIM:607052 a owl:Class ; @@ -231459,33 +239791,34 @@ OMIM:607052 a owl:Class ; IAO:0000142 PMID:11085536, PMID:11593436, PMID:18077375 ; - oboInOwl:hasDbXref UMLS:C1424700 ; oboInOwl:hasExactSynonym "TUSC2", "fus1", "tumor suppressor candidate 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11334 ; - skos:exactMatch HGNC_symbol:TUSC2 ; + skos:exactMatch UMLS:C1424700, + HGNC:17034, + HGNC_symbol:TUSC2 ; biolink:category biolink:Gene . OMIM:607054 a owl:Class ; rdfs:label "PHLDA3" ; IAO:0000142 PMID:10594239, PMID:19203586 ; - oboInOwl:hasDbXref UMLS:C1418541 ; oboInOwl:hasExactSynonym "PHLDA3", "pleckstrin homology-like domain, family a, member 3", "tdag51/ipl homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23612 ; - skos:exactMatch HGNC_symbol:PHLDA3 ; + skos:exactMatch UMLS:C1418541, + HGNC:8934, + HGNC_symbol:PHLDA3 ; biolink:category biolink:Gene . OMIM:607055 a owl:Class ; rdfs:label "TFB2M" ; IAO:0000142 PMID:12068295, PMID:19417006 ; - oboInOwl:hasDbXref UMLS:C1425600 ; oboInOwl:hasExactSynonym "TFB2M", "dimethyladenosine transferase 2, mitochondrial", "mitochondrial 12s rrna dimethylase 2", @@ -231493,7 +239826,9 @@ OMIM:607055 a owl:Class ; "transcription factor b2, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64216 ; - skos:exactMatch HGNC_symbol:TFB2M ; + skos:exactMatch UMLS:C1425600, + HGNC:18559, + HGNC_symbol:TFB2M ; biolink:category biolink:Gene . OMIM:607056 a owl:Class ; @@ -231505,14 +239840,15 @@ OMIM:607056 a owl:Class ; PMID:25085631 ; RO:0002525 CHR:9606chr3q12.3 ; RO:0003303 OMIM:613581 ; - oboInOwl:hasDbXref UMLS:C1425472 ; oboInOwl:hasExactSynonym "IMPG2", "interphotoreceptor matrix proteoglycan 2", "ipm200", "spacrcan" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50939 ; - skos:exactMatch HGNC_symbol:IMPG2 ; + skos:exactMatch UMLS:C1425472, + HGNC:18362, + HGNC_symbol:IMPG2 ; biolink:category biolink:Gene . OMIM:607057 a owl:Class ; @@ -231527,15 +239863,16 @@ OMIM:607057 a owl:Class ; PMID:31940699 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:617397 ; - oboInOwl:hasDbXref UMLS:C1421395, - UMLS:C4479376 ; oboInOwl:hasExactSynonym "USP18", "interferon-stimulated gene, 43-kd", "ubiquitin-specific protease 18", "ubiquitin-specific protease, 43-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11274 ; - skos:exactMatch HGNC_symbol:USP18 ; + skos:exactMatch UMLS:C1421395, + UMLS:C4479376, + HGNC:12616, + HGNC_symbol:USP18 ; biolink:category biolink:Gene . OMIM:607058 a owl:Class ; @@ -231545,7 +239882,6 @@ OMIM:607058 a owl:Class ; PMID:11516403, PMID:12441058, PMID:19000992 ; - oboInOwl:hasDbXref UMLS:C1846885 ; oboInOwl:hasExactSynonym "GJD2", "connexin 36", "gap junction protein, 36-kd", @@ -231553,7 +239889,9 @@ OMIM:607058 a owl:Class ; "gap junction protein, delta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57369 ; - skos:exactMatch HGNC_symbol:GJD2 ; + skos:exactMatch UMLS:C1846885, + HGNC:19154, + HGNC_symbol:GJD2 ; biolink:category biolink:Gene . OMIM:607059 a owl:Class ; @@ -231570,13 +239908,14 @@ OMIM:607059 a owl:Class ; PMID:19370757 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:201100 ; - oboInOwl:hasDbXref UMLS:C1424765 ; oboInOwl:hasExactSynonym "SLC39A4", "solute carrier family 39 (zinc transporter), member 4", "zip4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55630 ; - skos:exactMatch HGNC_symbol:SLC39A4 ; + skos:exactMatch UMLS:C1424765, + HGNC:17129, + HGNC_symbol:SLC39A4 ; biolink:category biolink:Gene . OMIM:607061 a owl:Class ; @@ -231587,26 +239926,28 @@ OMIM:607061 a owl:Class ; PMID:12519887, PMID:2303491, PMID:8114727 ; - oboInOwl:hasDbXref UMLS:C1846861 ; oboInOwl:hasExactSynonym "PTGES3", "prostaglandin e synthase 3", "prostaglandin e synthase, cytosolic", "unactive progesterone receptor, 23-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10728 ; - skos:exactMatch HGNC_symbol:PTGES3 ; + skos:exactMatch UMLS:C1846861, + HGNC:16049, + HGNC_symbol:PTGES3 ; biolink:category biolink:Gene . OMIM:607062 a owl:Class ; rdfs:label "FKBP7" ; IAO:0000142 PMID:9806833 ; - oboInOwl:hasDbXref UMLS:C1414629 ; oboInOwl:hasExactSynonym "FKBP7", "fk506-binding protein 7", "fkbp23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51661 ; - skos:exactMatch HGNC_symbol:FKBP7 ; + skos:exactMatch UMLS:C1414629, + HGNC:3723, + HGNC_symbol:FKBP7 ; biolink:category biolink:Gene . OMIM:607063 a owl:Class ; @@ -231630,38 +239971,41 @@ OMIM:607063 a owl:Class ; PMID:9927692 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:610968 ; - oboInOwl:hasDbXref UMLS:C1425359 ; oboInOwl:hasExactSynonym "FKBP10", "fk506-binding protein 10", "fkbp65" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60681 ; - skos:exactMatch HGNC_symbol:FKBP10 ; + skos:exactMatch UMLS:C1425359, + HGNC:18169, + HGNC_symbol:FKBP10 ; biolink:category biolink:Gene . OMIM:607064 a owl:Class ; rdfs:label "PCOLCE2" ; IAO:0000142 PMID:10873381, PMID:12063410 ; - oboInOwl:hasDbXref UMLS:C1418384 ; oboInOwl:hasExactSynonym "PCOLCE2", "procollagen c-endopeptidase enhancer 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26577 ; - skos:exactMatch HGNC_symbol:PCOLCE2 ; + skos:exactMatch UMLS:C1418384, + HGNC:8739, + HGNC_symbol:PCOLCE2 ; biolink:category biolink:Gene . OMIM:607065 a owl:Class ; rdfs:label "QPCT" ; IAO:0000142 PMID:18836460, PMID:7999256 ; - oboInOwl:hasDbXref UMLS:C1419183 ; oboInOwl:hasExactSynonym "QPCT", "glutaminyl cyclase", "glutaminyl-peptide cyclotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25797 ; - skos:exactMatch HGNC_symbol:QPCT ; + skos:exactMatch UMLS:C1419183, + HGNC:9753, + HGNC_symbol:QPCT ; biolink:category biolink:Gene . OMIM:607066 a owl:Class ; @@ -231678,13 +240022,14 @@ OMIM:607066 a owl:Class ; PMID:25285920 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:614594 ; - oboInOwl:hasDbXref UMLS:C1425292 ; oboInOwl:hasExactSynonym "TRPV3", "transient receptor potential cation channel, subfamily v, member 3", "vanilloid receptor-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162514 ; - skos:exactMatch HGNC_symbol:TRPV3 ; + skos:exactMatch UMLS:C1425292, + HGNC:18084, + HGNC_symbol:TRPV3 ; biolink:category biolink:Gene . OMIM:607067 a owl:Class ; @@ -231694,36 +240039,39 @@ OMIM:607067 a owl:Class ; PMID:12447938, PMID:12913211, PMID:15136700 ; - oboInOwl:hasDbXref UMLS:C1846860 ; oboInOwl:hasExactSynonym "saitohin", "sth" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246744 ; - skos:exactMatch HGNC_symbol:STH ; + skos:exactMatch UMLS:C1846860, + HGNC:18839, + HGNC_symbol:STH ; biolink:category biolink:Gene . OMIM:607068 a owl:Class ; rdfs:label "CYB561D2" ; IAO:0000142 PMID:11085536 ; - oboInOwl:hasDbXref UMLS:C1539198 ; oboInOwl:hasExactSynonym "101f6", "CYB561D2", "cytochrome b561 domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11068 ; - skos:exactMatch HGNC_symbol:CYB561D2 ; + skos:exactMatch UMLS:C1539198, + HGNC:30253, + HGNC_symbol:CYB561D2 ; biolink:category biolink:Gene . OMIM:607069 a owl:Class ; rdfs:label "TMEM115" ; IAO:0000142 PMID:11085536 ; - oboInOwl:hasDbXref UMLS:C1823376 ; oboInOwl:hasExactSynonym "TMEM115", "pl6 gene", "transmembrane protein 115" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11070 ; - skos:exactMatch HGNC_symbol:TMEM115 ; + skos:exactMatch UMLS:C1823376, + HGNC:30055, + HGNC_symbol:TMEM115 ; biolink:category biolink:Gene . OMIM:607070 a owl:Class ; @@ -231734,13 +240082,14 @@ OMIM:607070 a owl:Class ; PMID:23891471 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:615444 ; - oboInOwl:hasDbXref UMLS:C1426228 ; oboInOwl:hasExactSynonym "ZMYND10", "blu", "zinc finger mynd domain-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51364 ; - skos:exactMatch HGNC_symbol:ZMYND10 ; + skos:exactMatch UMLS:C1426228, + HGNC:19412, + HGNC_symbol:ZMYND10 ; biolink:category biolink:Gene . OMIM:607071 a owl:Class ; @@ -231754,13 +240103,14 @@ OMIM:607071 a owl:Class ; PMID:9503017 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:601492 ; - oboInOwl:hasDbXref UMLS:C1415825 ; oboInOwl:hasExactSynonym "HYAL1", "hyaluronidase 1", "hyaluronoglucosaminidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3373 ; - skos:exactMatch HGNC_symbol:HYAL1 ; + skos:exactMatch UMLS:C1415825, + HGNC:5320, + HGNC_symbol:HYAL1 ; biolink:category biolink:Gene . OMIM:607072 a owl:Class ; @@ -231773,7 +240123,6 @@ OMIM:607072 a owl:Class ; PMID:29590090 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:617116 ; - oboInOwl:hasDbXref UMLS:C1428434 ; oboInOwl:hasExactSynonym "NPRL2", "npr2, s. cerevisiae, homolog of", "npr2-like protein, gator1 complex subunit", @@ -231781,69 +240130,76 @@ OMIM:607072 a owl:Class ; "tumor suppressor candidate 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10641 ; - skos:exactMatch HGNC_symbol:NPRL2 ; + skos:exactMatch UMLS:C1428434, + HGNC:24969, + HGNC_symbol:NPRL2 ; biolink:category biolink:Gene . OMIM:607073 a owl:Class ; rdfs:label "NAA80" ; IAO:0000142 PMID:10644992, PMID:11085536 ; - oboInOwl:hasDbXref UMLS:C1538043 ; oboInOwl:hasExactSynonym "NAA80", "fus2", "n-alpha-acetyltransferase 80, nath catalytic subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24142 ; - skos:exactMatch HGNC_symbol:NAA80 ; + skos:exactMatch UMLS:C1538043, + HGNC:30252, + HGNC_symbol:NAA80 ; biolink:category biolink:Gene . OMIM:607074 a owl:Class ; rdfs:label "PRKD2" ; IAO:0000142 PMID:11062248 ; - oboInOwl:hasDbXref UMLS:C1538717 ; oboInOwl:hasExactSynonym "PRKD2", "pkd2", "protein kinase d2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25865 ; - skos:exactMatch HGNC_symbol:PRKD2 ; + skos:exactMatch UMLS:C1538717, + HGNC:17293, + HGNC_symbol:PRKD2 ; biolink:category biolink:Gene . OMIM:607075 a owl:Class ; rdfs:label "PDAP1" ; IAO:0000142 PMID:8780057 ; - oboInOwl:hasDbXref UMLS:C1422804 ; oboInOwl:hasExactSynonym "PDAP1", "pap1", "pdgfa-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11333 ; - skos:exactMatch HGNC_symbol:PDAP1 ; + skos:exactMatch UMLS:C1422804, + HGNC:14634, + HGNC_symbol:PDAP1 ; biolink:category biolink:Gene . OMIM:607076 a owl:Class ; rdfs:label "PI15" ; IAO:0000142 PMID:8882727, PMID:9473672 ; - oboInOwl:hasDbXref UMLS:C1418548 ; oboInOwl:hasExactSynonym "PI15", "p25ti", "protease inhibitor 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51050 ; - skos:exactMatch HGNC_symbol:PI15 ; + skos:exactMatch UMLS:C1418548, + HGNC:8946, + HGNC_symbol:PI15 ; biolink:category biolink:Gene . OMIM:607077 a owl:Class ; rdfs:label "PRKCN" ; IAO:0000142 PMID:10231560 ; - oboInOwl:hasDbXref UMLS:C1538718 ; oboInOwl:hasExactSynonym "PRKCN", "pkc-nu", "protein kinase c, nu" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23683 ; - skos:exactMatch HGNC_symbol:PRKD3 ; + skos:exactMatch UMLS:C1538718, + HGNC:9408, + HGNC_symbol:PRKD3 ; biolink:category biolink:Gene . OMIM:607078 a owl:Class ; @@ -231855,24 +240211,25 @@ OMIM:607078 a owl:Class ; PMID:14729835, PMID:14994237, PMID:15948199 ; - oboInOwl:hasDbXref UMLS:C1846843 ; oboInOwl:hasExactSynonym "EDM5", "epiphyseal dysplasia, multiple, 5", "microepiphyseal dysplasia, bilateral hereditary", "multiple epiphyseal dysplasia, matn3-related" ; rdfs:subClassOf OMIMPS:132400 ; + skos:exactMatch UMLS:C1846843 ; biolink:category biolink:Disease . OMIM:607079 a owl:Class ; rdfs:label "RHBG" ; IAO:0000142 PMID:11024028, PMID:15361618 ; - oboInOwl:hasDbXref UMLS:C1422764 ; oboInOwl:hasExactSynonym "RHBG", "rhesus blood group, B glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57127 ; - skos:exactMatch HGNC_symbol:RHBG ; + skos:exactMatch UMLS:C1422764, + HGNC:14572, + HGNC_symbol:RHBG ; biolink:category biolink:Gene . OMIM:607080 a owl:Class ; @@ -231884,10 +240241,10 @@ OMIM:607080 a owl:Class ; PMID:28589169, PMID:28708305, PMID:29471294 ; - oboInOwl:hasDbXref UMLS:C5436061, - ORPHA:168563 ; oboInOwl:hasExactSynonym "46,xy gonadal dysgenesis with minifascicular neuropathy", "GDMN" ; + skos:exactMatch UMLS:C5436061, + ORPHA:168563 ; biolink:category biolink:Disease . OMIM:607081 a owl:Class ; @@ -231896,7 +240253,6 @@ OMIM:607081 a owl:Class ; PMID:26869717, PMID:29025991, PMID:29025996 ; - oboInOwl:hasDbXref UMLS:C1539925 ; oboInOwl:hasExactSynonym "TAPBPL", "tap-binding protein-like", "tap-binding protein-related protein", @@ -231904,7 +240260,9 @@ OMIM:607081 a owl:Class ; "tapbp-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55080 ; - skos:exactMatch HGNC_symbol:TAPBPL ; + skos:exactMatch UMLS:C1539925, + HGNC:30683, + HGNC_symbol:TAPBPL ; biolink:category biolink:Gene . OMIM:607082 a owl:Class ; @@ -231922,13 +240280,14 @@ OMIM:607082 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:618501 ; - oboInOwl:hasDbXref UMLS:C1413066 ; oboInOwl:hasExactSynonym "CACNA2D2", "calcium channel, voltage-dependent, alpha-2/delta subunit 2", "kiaa0558" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9254 ; - skos:exactMatch HGNC_symbol:CACNA2D2 ; + skos:exactMatch UMLS:C1413066, + HGNC:1400, + HGNC_symbol:CACNA2D2 ; biolink:category biolink:Gene . OMIM:607083 a owl:Class ; @@ -231936,15 +240295,16 @@ OMIM:607083 a owl:Class ; IAO:0000142 PMID:11374904, PMID:11549311, PMID:11986249 ; - oboInOwl:hasDbXref UMLS:C1421506, - UMLS:C1846840 ; oboInOwl:hasExactSynonym "NSD3", "nsd3/nup98 fusion gene", "nuclear receptor-binding set domain protein 3", "whsc1l1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54904 ; - skos:exactMatch HGNC_symbol:NSD3 ; + skos:exactMatch UMLS:C1421506, + UMLS:C1846840, + HGNC:12767, + HGNC_symbol:NSD3 ; biolink:category biolink:Gene . OMIM:607084 a owl:Class ; @@ -231953,36 +240313,38 @@ OMIM:607084 a owl:Class ; PMID:12833159, PMID:15841483, PMID:8088814 ; - oboInOwl:hasDbXref UMLS:C1846839 ; oboInOwl:hasExactSynonym "DFNB31", "deafness, autosomal recessive 31", "whirler, mouse, homolog of" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1846839 ; biolink:category biolink:Disease . OMIM:607089 a owl:Class ; rdfs:label "CCNDBP1" ; IAO:0000142 PMID:10801854 ; - oboInOwl:hasDbXref UMLS:C1413177 ; oboInOwl:hasExactSynonym "CCNDBP1", "cyclin d-type-binding protein 1", "grap2 cyclin-d-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23582 ; - skos:exactMatch HGNC_symbol:CCNDBP1 ; + skos:exactMatch UMLS:C1413177, + HGNC:1587, + HGNC_symbol:CCNDBP1 ; biolink:category biolink:Gene . OMIM:607090 a owl:Class ; rdfs:label "SYF2" ; IAO:0000142 PMID:11118353 ; - oboInOwl:hasDbXref UMLS:C1823161 ; oboInOwl:hasExactSynonym "SYF2", "gcip-interacting protein p29", "syf2 pre-mrna splicing factor", "syf2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25949 ; - skos:exactMatch HGNC_symbol:SYF2 ; + skos:exactMatch UMLS:C1823161, + HGNC:19824, + HGNC_symbol:SYF2 ; biolink:category biolink:Gene . OMIM:607092 a owl:Class ; @@ -231992,12 +240354,13 @@ OMIM:607092 a owl:Class ; PMID:17885683, PMID:19603543, PMID:19729656 ; - oboInOwl:hasDbXref UMLS:C1425830 ; oboInOwl:hasExactSynonym "SPHK2", "sphingosine kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56848 ; - skos:exactMatch HGNC_symbol:SPHK2 ; + skos:exactMatch UMLS:C1425830, + HGNC:18859, + HGNC_symbol:SPHK2 ; biolink:category biolink:Gene . OMIM:607093 a owl:Class ; @@ -232112,12 +240475,13 @@ OMIM:607093 a owl:Class ; PMID:9843036, PMID:9863598 ; RO:0002525 CHR:9606chr1p36.22 ; - oboInOwl:hasDbXref UMLS:C0919427 ; oboInOwl:hasExactSynonym "5,10-methylenetetrahydrofolate reductase", "MTHFR" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4524 ; - skos:exactMatch HGNC_symbol:MTHFR ; + skos:exactMatch UMLS:C0919427, + HGNC:7436, + HGNC_symbol:MTHFR ; biolink:category biolink:Gene . OMIM:607094 a owl:Class ; @@ -232126,14 +240490,15 @@ OMIM:607094 a owl:Class ; PMID:15590694, PMID:9419338, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1424593 ; oboInOwl:hasExactSynonym "SOCS5", "cytokine-inducible sh2 protein 6", "kiaa0671", "suppressor of cytokine signaling 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9655 ; - skos:exactMatch HGNC_symbol:SOCS5 ; + skos:exactMatch UMLS:C1424593, + HGNC:16852, + HGNC_symbol:SOCS5 ; biolink:category biolink:Gene . OMIM:607095 a owl:Class ; @@ -232141,9 +240506,6 @@ OMIM:607095 a owl:Class ; IAO:0000142 PMID:11370632, PMID:16252239, PMID:8723091 ; - oboInOwl:hasDbXref UMLS:C1846796, - UMLS:C4551965, - ORPHA:93347 ; oboInOwl:hasExactSynonym "ANXD1", "anauxetic dysplasia", "anauxetic dysplasia 1", @@ -232151,6 +240513,9 @@ OMIM:607095 a owl:Class ; "spondylometaepiphyseal dysplasia, anauxetic iia", "spondylometaepiphyseal dysplasia, menger iia" ; rdfs:subClassOf OMIMPS:607095 ; + skos:exactMatch UMLS:C1846796, + UMLS:C4551965, + ORPHA:93347 ; biolink:category biolink:Disease . OMIM:607096 a owl:Class ; @@ -232162,48 +240527,51 @@ OMIM:607096 a owl:Class ; PMID:18492088 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:220150 ; - oboInOwl:hasDbXref UMLS:C1425219 ; oboInOwl:hasExactSynonym "SLC22A12", "organic anion transporter 4-like", "solute carrier family 22 (urate transporter), member 12", "urate transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116085 ; - skos:exactMatch HGNC_symbol:SLC22A12 ; + skos:exactMatch UMLS:C1425219, + HGNC:17989, + HGNC_symbol:SLC22A12 ; biolink:category biolink:Gene . OMIM:607097 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10660625, PMID:12024214 ; - oboInOwl:hasDbXref UMLS:C1425326 ; oboInOwl:hasExactSynonym "organic anion transporter 4", "slc22a11", "solute carrier family 22 (organic anion/cation transporter), member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55867 ; - skos:exactMatch HGNC_symbol:SLC22A11 ; + skos:exactMatch UMLS:C1425326, + HGNC:18120, + HGNC_symbol:SLC22A11 ; biolink:category biolink:Gene . OMIM:607098 a owl:Class ; rdfs:label "enolase alpha, lung-specific" ; IAO:0000142 PMID:7689884 ; - oboInOwl:hasDbXref UMLS:C1846791 ; oboInOwl:hasExactSynonym "ENO1B", "enolase alpha, lung-specific", - "human lung enolase" . + "human lung enolase" ; + skos:exactMatch UMLS:C1846791 . OMIM:607099 a owl:Class ; rdfs:label "HINFP" ; IAO:0000142 PMID:11553631, PMID:15541338 ; - oboInOwl:hasDbXref UMLS:C1826255 ; oboInOwl:hasExactSynonym "HINFP", "histone h4 transcription factor", "mbd2-interacting zinc finger protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25988 ; - skos:exactMatch HGNC_symbol:HINFP ; + skos:exactMatch UMLS:C1826255, + HGNC:17850, + HGNC_symbol:HINFP ; biolink:category biolink:Gene . OMIM:607100 a owl:Class ; @@ -232225,13 +240593,14 @@ OMIM:607100 a owl:Class ; PMID:9856524 ; RO:0002525 CHR:9606chr2q13 ; RO:0003303 OMIM:266900 ; - oboInOwl:hasDbXref UMLS:C1417782 ; oboInOwl:hasExactSynonym "NPHP1", "nephrocystin 1", "nph1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4867 ; - skos:exactMatch HGNC_symbol:NPHP1 ; + skos:exactMatch UMLS:C1417782, + HGNC:7905, + HGNC_symbol:NPHP1 ; biolink:category biolink:Gene . OMIM:607102 a owl:Class ; @@ -232319,14 +240688,15 @@ OMIM:607102 a owl:Class ; PMID:9607189 ; RO:0002525 CHR:9606chr11p13 ; RO:0003303 OMIM:194070 ; - oboInOwl:hasDbXref UMLS:C0694898, - UMLS:C3274610 ; oboInOwl:hasExactSynonym "WT1", "wt1 transcription factor", "wt1/ews fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7490 ; - skos:exactMatch HGNC_symbol:WT1 ; + skos:exactMatch UMLS:C0694898, + UMLS:C3274610, + HGNC:12796, + HGNC_symbol:WT1 ; biolink:category biolink:Gene . OMIM:607103 a owl:Class ; @@ -232336,18 +240706,18 @@ OMIM:607103 a owl:Class ; PMID:16222293, PMID:16794040, PMID:9858543 ; - oboInOwl:hasDbXref UMLS:C1412614 ; oboInOwl:hasExactSynonym "ATE1", "arginyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11101 ; - skos:exactMatch HGNC_symbol:ATE1 ; + skos:exactMatch UMLS:C1412614, + HGNC:782, + HGNC_symbol:ATE1 ; biolink:category biolink:Gene . OMIM:607104 a owl:Class ; rdfs:label "TNKS1BP1" ; IAO:0000142 PMID:11854288 ; - oboInOwl:hasDbXref UMLS:C1425997 ; oboInOwl:hasExactSynonym "TNKS1BP1", "kiaa1741", "tab182", @@ -232355,20 +240725,23 @@ OMIM:607104 a owl:Class ; "tankyrase 1-binding protein, 182-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85456 ; - skos:exactMatch HGNC_symbol:TNKS1BP1 ; + skos:exactMatch UMLS:C1425997, + HGNC:19081, + HGNC_symbol:TNKS1BP1 ; biolink:category biolink:Gene . OMIM:607105 a owl:Class ; rdfs:label "NOX3" ; IAO:0000142 PMID:10974555, PMID:15014044 ; - oboInOwl:hasDbXref UMLS:C1417770 ; oboInOwl:hasExactSynonym "NOX3", "gp91-3", "nadph oxidase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50508 ; - skos:exactMatch HGNC_symbol:NOX3 ; + skos:exactMatch UMLS:C1417770, + HGNC:7890, + HGNC_symbol:NOX3 ; biolink:category biolink:Gene . OMIM:607106 a owl:Class ; @@ -232376,7 +240749,6 @@ OMIM:607106 a owl:Class ; IAO:0000142 PMID:12077416, PMID:12139484, PMID:12419218 ; - oboInOwl:hasDbXref UMLS:C1424276 ; oboInOwl:hasExactSynonym "HM13", "histocompatibility 13", "intramembrane protease 1", @@ -232384,7 +240756,9 @@ OMIM:607106 a owl:Class ; "signal peptide peptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81502 ; - skos:exactMatch HGNC_symbol:HM13 ; + skos:exactMatch UMLS:C1424276, + HGNC:16435, + HGNC_symbol:HM13 ; biolink:category biolink:Gene . OMIM:607108 a owl:Class ; @@ -232482,7 +240856,11 @@ OMIM:607108 a owl:Class ; PMID:9931324 ; RO:0002525 CHR:9606chr11p13 ; RO:0003303 OMIM:165550 ; - oboInOwl:hasDbXref UMLS:C0003076, + oboInOwl:hasExactSynonym "PAX6", + "paired box gene 6" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:5080 ; + skos:exactMatch UMLS:C0003076, UMLS:C0009363, UMLS:C0155299, UMLS:C1418276, @@ -232497,12 +240875,9 @@ OMIM:607108 a owl:Class ; UMLS:C4017070, UMLS:C4017657, UMLS:C4310841, - UMLS:C4310884 ; - oboInOwl:hasExactSynonym "PAX6", - "paired box gene 6" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:5080 ; - skos:exactMatch HGNC_symbol:PAX6 ; + UMLS:C4310884, + HGNC:8620, + HGNC_symbol:PAX6 ; biolink:category biolink:Gene . OMIM:607109 a owl:Class ; @@ -232513,13 +240888,14 @@ OMIM:607109 a owl:Class ; PMID:18403710, PMID:31249028, PMID:32747826 ; - oboInOwl:hasDbXref UMLS:C1424917 ; oboInOwl:hasExactSynonym "APOBEC3A", "apolipoprotein B mrna-editing enzyme, catalytic polypeptide-like 3a", "phorbolin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200315 ; - skos:exactMatch HGNC_symbol:APOBEC3A ; + skos:exactMatch UMLS:C1424917, + HGNC:17343, + HGNC_symbol:APOBEC3A ; biolink:category biolink:Gene . OMIM:607110 a owl:Class ; @@ -232532,13 +240908,14 @@ OMIM:607110 a owl:Class ; PMID:24153179, PMID:32719516, PMID:32747826 ; - oboInOwl:hasDbXref UMLS:C1424925 ; oboInOwl:hasExactSynonym "APOBEC3B", "apolipoprotein B mrna-editing enzyme, catalytic polypeptide-like 3b", "phorbolin 1-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9582 ; - skos:exactMatch HGNC_symbol:APOBEC3B ; + skos:exactMatch UMLS:C1424925, + HGNC:17352, + HGNC_symbol:APOBEC3B ; biolink:category biolink:Gene . OMIM:607111 a owl:Class ; @@ -232554,14 +240931,15 @@ OMIM:607111 a owl:Class ; PMID:27112432 ; RO:0002525 CHR:9606chr13q13.3 ; RO:0003303 OMIM:275900 ; - oboInOwl:hasDbXref UMLS:C1425570 ; oboInOwl:hasExactSynonym "SPART", "kiaa0610", "spartin", "spg20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23111 ; - skos:exactMatch HGNC_symbol:SPART ; + skos:exactMatch UMLS:C1425570, + HGNC:18514, + HGNC_symbol:SPART ; biolink:category biolink:Gene . OMIM:607112 a owl:Class ; @@ -232573,7 +240951,6 @@ OMIM:607112 a owl:Class ; PMID:12383498, PMID:15520277, PMID:9857061 ; - oboInOwl:hasDbXref UMLS:C1422076 ; oboInOwl:hasExactSynonym "FBXO2", "f-box only protein 2", "fbg1", @@ -232581,7 +240958,9 @@ OMIM:607112 a owl:Class ; "neural f-box protein, 42-kd, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26232 ; - skos:exactMatch HGNC_symbol:FBXO2 ; + skos:exactMatch UMLS:C1422076, + HGNC:13581, + HGNC_symbol:FBXO2 ; biolink:category biolink:Gene . OMIM:607113 a owl:Class ; @@ -232611,7 +240990,6 @@ OMIM:607113 a owl:Class ; PMID:19668336, PMID:21147467, PMID:22190036 ; - oboInOwl:hasDbXref UMLS:C1424930 ; oboInOwl:hasExactSynonym "APOBEC3G", "apolipoprotein B mrna-editing enzyme, catalytic polypeptide-like 3g", "bk150c2.7", @@ -232621,7 +240999,9 @@ OMIM:607113 a owl:Class ; "phorbolin-like protein mds019" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60489 ; - skos:exactMatch HGNC_symbol:APOBEC3G ; + skos:exactMatch UMLS:C1424930, + HGNC:17357, + HGNC_symbol:APOBEC3G ; biolink:category biolink:Gene . OMIM:607114 a owl:Class ; @@ -232632,12 +241012,13 @@ OMIM:607114 a owl:Class ; PMID:12768445, PMID:16773130, PMID:17061022 ; - oboInOwl:hasDbXref UMLS:C1423517 ; oboInOwl:hasExactSynonym "ADAM33", "a disintegrin and metalloproteinase domain 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80332 ; - skos:exactMatch HGNC_symbol:ADAM33 ; + skos:exactMatch UMLS:C1423517, + HGNC:15478, + HGNC_symbol:ADAM33 ; biolink:category biolink:Gene . OMIM:607115 a owl:Class ; @@ -232650,12 +241031,12 @@ OMIM:607115 a owl:Class ; PMID:2781338, PMID:6847730, PMID:7252669 ; - oboInOwl:hasDbXref UMLS:C0409818 ; oboInOwl:hasExactSynonym "CINCA", "chronic neurologic cutaneous and articular syndrome", "cinca syndrome", "cryopyrin-associated periodic syndrome 3", "multisystem inflammatory disease, neonatal-onset" ; + skos:exactMatch UMLS:C0409818 ; biolink:category biolink:Disease . OMIM:607117 a owl:Class ; @@ -232679,8 +241060,6 @@ OMIM:607117 a owl:Class ; PMID:7693575 ; RO:0002525 CHR:9606chr8p23.1 ; RO:0003303 OMIM:251200 ; - oboInOwl:hasDbXref UMLS:C1417075, - UMLS:C1855081 ; oboInOwl:hasExactSynonym "MCPH1", "brct-repeat inhibitor of tert expression 1", "mcph1 gene", @@ -232688,7 +241067,10 @@ OMIM:607117 a owl:Class ; "microcephalin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79648 ; - skos:exactMatch HGNC_symbol:MCPH1 ; + skos:exactMatch UMLS:C1417075, + UMLS:C1855081, + HGNC:6954, + HGNC_symbol:MCPH1 ; biolink:category biolink:Gene . OMIM:607118 a owl:Class ; @@ -232699,27 +241081,29 @@ OMIM:607118 a owl:Class ; PMID:2891103 ; RO:0002525 CHR:9606chr3q22.1 ; RO:0003303 OMIM:614582 ; - oboInOwl:hasDbXref UMLS:C1419695 ; oboInOwl:hasExactSynonym "MRPL3", "mitochondrial ribosomal protein l3", "mrl3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11222 ; - skos:exactMatch HGNC_symbol:MRPL3 ; + skos:exactMatch UMLS:C1419695, + HGNC:10379, + HGNC_symbol:MRPL3 ; biolink:category biolink:Gene . OMIM:607119 a owl:Class ; rdfs:label "RNF19A" ; IAO:0000142 PMID:10976766, PMID:11237715 ; - oboInOwl:hasDbXref UMLS:C1421990 ; oboInOwl:hasExactSynonym "RNF19A", "dorfin", "double ring finger protein", "ring finger protein 19a, rbr e3 ubiquitin protein ligase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25897 ; - skos:exactMatch HGNC_symbol:RNF19A ; + skos:exactMatch UMLS:C1421990, + HGNC:13432, + HGNC_symbol:RNF19A ; biolink:category biolink:Gene . OMIM:607120 a owl:Class ; @@ -232736,8 +241120,6 @@ OMIM:607120 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr20p12.3 ; RO:0003303 OMIM:613722 ; - oboInOwl:hasDbXref UMLS:C1423830, - UMLS:C3150988 ; oboInOwl:hasExactSynonym "PLCB1", "kiaa0581", "phospholipase c, beta-1", @@ -232745,7 +241127,10 @@ OMIM:607120 a owl:Class ; "plcb1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23236 ; - skos:exactMatch HGNC_symbol:PLCB1 ; + skos:exactMatch UMLS:C1423830, + UMLS:C3150988, + HGNC:15917, + HGNC_symbol:PLCB1 ; biolink:category biolink:Gene . OMIM:607121 a owl:Class ; @@ -232756,14 +241141,15 @@ OMIM:607122 a owl:Class ; rdfs:label "PROKR1" ; IAO:0000142 PMID:10760605, PMID:11886876 ; - oboInOwl:hasDbXref UMLS:C1826704 ; oboInOwl:hasExactSynonym "PROKR1", "g protein-coupled receptor 73", "pkr1", "prokineticin receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10887 ; - skos:exactMatch HGNC_symbol:PROKR1 ; + skos:exactMatch UMLS:C1826704, + HGNC:4524, + HGNC_symbol:PROKR1 ; biolink:category biolink:Gene . OMIM:607123 a owl:Class ; @@ -232777,14 +241163,15 @@ OMIM:607123 a owl:Class ; PMID:22927827 ; RO:0002525 CHR:9606chr20p12.3 ; RO:0003303 OMIM:244200 ; - oboInOwl:hasDbXref UMLS:C1826705 ; oboInOwl:hasExactSynonym "PROKR2", "g protein-coupled receptor 73-like 1", "pkr2", "prokineticin receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128674 ; - skos:exactMatch HGNC_symbol:PROKR2 ; + skos:exactMatch UMLS:C1826705, + HGNC:15836, + HGNC_symbol:PROKR2 ; biolink:category biolink:Gene . OMIM:607124 a owl:Class ; @@ -232793,13 +241180,14 @@ OMIM:607124 a owl:Class ; PMID:9570154, PMID:9607309, PMID:9705349 ; - oboInOwl:hasDbXref UMLS:C1335236 ; oboInOwl:hasExactSynonym "PLPP1", "phosphatidic acid phosphatase iia 2a", "phospholipid phosphatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8611 ; - skos:exactMatch HGNC_symbol:PLPP1 ; + skos:exactMatch UMLS:C1335236, + HGNC:9228, + HGNC_symbol:PLPP1 ; biolink:category biolink:Gene . OMIM:607125 a owl:Class ; @@ -232808,13 +241196,14 @@ OMIM:607125 a owl:Class ; PMID:9305923, PMID:9607309, PMID:9705349 ; - oboInOwl:hasDbXref UMLS:C1418774 ; oboInOwl:hasExactSynonym "PLPP3", "phosphatidic acid phosphatase iia 2b", "phospholipid phosphatase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8613 ; - skos:exactMatch HGNC_symbol:PLPP3 ; + skos:exactMatch UMLS:C1418774, + HGNC:9229, + HGNC_symbol:PLPP3 ; biolink:category biolink:Gene . OMIM:607126 a owl:Class ; @@ -232823,13 +241212,14 @@ OMIM:607126 a owl:Class ; PMID:10992322, PMID:9607309, PMID:9705349 ; - oboInOwl:hasDbXref UMLS:C1418775 ; oboInOwl:hasExactSynonym "PLPP2", "phosphatidic acid phosphatase iia 2c", "phospholipid phosphatase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8612 ; - skos:exactMatch HGNC_symbol:PLPP2 ; + skos:exactMatch UMLS:C1418775, + HGNC:9230, + HGNC_symbol:PLPP2 ; biolink:category biolink:Gene . OMIM:607127 a owl:Class ; @@ -232839,8 +241229,6 @@ OMIM:607127 a owl:Class ; PMID:10697956, PMID:16497931, PMID:16824950 ; - oboInOwl:hasDbXref UMLS:C1825059, - UMLS:C1846724 ; oboInOwl:hasExactSynonym "ERC1", "elks gene", "elks/rab6-interacting/cast family, member 1", @@ -232849,7 +241237,10 @@ OMIM:607127 a owl:Class ; "rab6-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23085 ; - skos:exactMatch HGNC_symbol:ERC1 ; + skos:exactMatch UMLS:C1825059, + UMLS:C1846724, + HGNC:17072, + HGNC_symbol:ERC1 ; biolink:category biolink:Gene . OMIM:607128 a owl:Class ; @@ -232861,7 +241252,6 @@ OMIM:607128 a owl:Class ; PMID:11802774, PMID:16151859, PMID:19759537 ; - oboInOwl:hasDbXref UMLS:C1423650 ; oboInOwl:hasExactSynonym "TNKS2", "tank2", "tankyrase 2", @@ -232869,7 +241259,9 @@ OMIM:607128 a owl:Class ; "trf1-interacting ankyrin-related adp-ribose polymerase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80351 ; - skos:exactMatch HGNC_symbol:TNKS2 ; + skos:exactMatch UMLS:C1423650, + HGNC:15677, + HGNC_symbol:TNKS2 ; biolink:category biolink:Gene . OMIM:607129 a owl:Class ; @@ -232878,14 +241270,15 @@ OMIM:607129 a owl:Class ; PMID:12110185, PMID:20148037, PMID:22116028 ; - oboInOwl:hasDbXref UMLS:C1537694 ; oboInOwl:hasExactSynonym "MICAL1", "microtubule-associated monooxygenase, calponin and 51m domains-containing, 1", "molecule interacting with casl", "nedd9-interacting protein with calponin homology and 51m domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64780 ; - skos:exactMatch HGNC_symbol:MICAL1 ; + skos:exactMatch UMLS:C1537694, + HGNC:20619, + HGNC_symbol:MICAL1 ; biolink:category biolink:Gene . OMIM:607130 a owl:Class ; @@ -232900,14 +241293,15 @@ OMIM:607130 a owl:Class ; PMID:18497260, PMID:26678875, PMID:30078703 ; - oboInOwl:hasDbXref UMLS:C1846723 ; oboInOwl:hasExactSynonym "RPTOR", "kiaa1303", "raptor", "regulatory associated protein of mtor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57521 ; - skos:exactMatch HGNC_symbol:RPTOR ; + skos:exactMatch UMLS:C1846723, + HGNC:30287, + HGNC_symbol:RPTOR ; biolink:category biolink:Gene . OMIM:607131 a owl:Class ; @@ -232916,19 +241310,19 @@ OMIM:607131 a owl:Class ; PMID:22587682, PMID:23431744, PMID:9689990 ; - oboInOwl:hasDbXref UMLS:C1846722, - ORPHA:166024 ; oboInOwl:hasExactSynonym "AGBK", "al-gazali-bakalinova syndrome", "macrocephaly with multiple epiphyseal dysplasia and distinctive facies" ; + skos:exactMatch UMLS:C1846722, + ORPHA:166024 ; biolink:category biolink:Disease . OMIM:607132 a owl:Class ; rdfs:label "laryngeal atresia, encephalocele, and limb deformities" ; IAO:0000142 PMID:11424928 ; - oboInOwl:hasDbXref UMLS:C1846721 ; oboInOwl:hasExactSynonym "laryngeal atresia, encephalocele, and limb deformities", - "lel" . + "lel" ; + skos:exactMatch UMLS:C1846721 . OMIM:607133 a owl:Class ; IAO:0100001 OMIM:601547 ; @@ -232943,7 +241337,6 @@ OMIM:607137 a owl:Class ; PMID:9538234 ; RO:0002525 CHR:9606chr4q21.22 ; RO:0003303 OMIM:609115 ; - oboInOwl:hasDbXref UMLS:C1415639 ; oboInOwl:hasExactSynonym "HNRNPDL", "au-rich element rna-binding factor", "heterogeneous nuclear ribonucleoprotein d-like protein", @@ -232952,7 +241345,9 @@ OMIM:607137 a owl:Class ; "jktbp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9987 ; - skos:exactMatch HGNC_symbol:HNRNPDL ; + skos:exactMatch UMLS:C1415639, + HGNC:5037, + HGNC_symbol:HNRNPDL ; biolink:category biolink:Gene . OMIM:607139 a owl:Class ; @@ -233002,13 +241397,14 @@ OMIM:607139 a owl:Class ; PMID:9711872 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:227650 ; - oboInOwl:hasDbXref UMLS:C1414527 ; oboInOwl:hasExactSynonym "FANCA", "faca", "fanca gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2175 ; - skos:exactMatch HGNC_symbol:FANCA ; + skos:exactMatch UMLS:C1414527, + HGNC:3582, + HGNC_symbol:FANCA ; biolink:category biolink:Gene . OMIM:607140 a owl:Class ; @@ -233020,21 +241416,22 @@ OMIM:607140 a owl:Class ; PMID:6959555, PMID:7046115, PMID:7749670 ; - oboInOwl:hasDbXref UMLS:C0002982 ; oboInOwl:hasExactSynonym "angioid streaks" ; + skos:exactMatch UMLS:C0002982 ; biolink:category biolink:Disease . OMIM:607141 a owl:Class ; rdfs:label "GLIPR2" ; IAO:0000142 PMID:23364696 ; - oboInOwl:hasDbXref UMLS:C1425234 ; oboInOwl:hasExactSynonym "GLIPR2", "chromosome 9 open reading frame 19", "glioma pathogenesis-related protein 2", "golgi-associated pr1 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152007 ; - skos:exactMatch HGNC_symbol:GLIPR2 ; + skos:exactMatch UMLS:C1425234, + HGNC:18007, + HGNC_symbol:GLIPR2 ; biolink:category biolink:Gene . OMIM:607142 a owl:Class ; @@ -233053,8 +241450,6 @@ OMIM:607144 a owl:Class ; PMID:31481313 ; RO:0002525 CHR:9606chr22q13.33 ; RO:0003303 OMIM:607143 ; - oboInOwl:hasDbXref UMLS:C1426190, - UMLS:C2931001 ; oboInOwl:hasExactSynonym "ALG12", "alg12 alpha-1,6-mannosyltransferase", "alg12, s. cerevisiae, homolog of", @@ -233062,7 +241457,10 @@ OMIM:607144 a owl:Class ; "dolichyl-p-mannose:man-7-glcnac-2-pp-dolichyl-alpha-6-mannosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79087 ; - skos:exactMatch HGNC_symbol:ALG12 ; + skos:exactMatch UMLS:C1426190, + UMLS:C2931001, + HGNC:19358, + HGNC_symbol:ALG12 ; biolink:category biolink:Gene . OMIM:607145 a owl:Class ; @@ -233081,8 +241479,6 @@ OMIM:607145 a owl:Class ; PMID:28259707 ; RO:0002525 CHR:9606chr6p22.3 ; RO:0003303 OMIM:614076 ; - oboInOwl:hasDbXref UMLS:C1424906, - UMLS:C3279756 ; oboInOwl:hasExactSynonym "DTNBP1", "biogenesis of lysosome-related organelles complex 1, subunit 8", "bloc1, subunit 8", @@ -233092,19 +241488,23 @@ OMIM:607145 a owl:Class ; "sandy, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84062 ; - skos:exactMatch HGNC_symbol:DTNBP1 ; + skos:exactMatch UMLS:C1424906, + UMLS:C3279756, + HGNC:17328, + HGNC_symbol:DTNBP1 ; biolink:category biolink:Gene . OMIM:607146 a owl:Class ; rdfs:label "PDZD3" ; IAO:0000142 PMID:11950846 ; - oboInOwl:hasDbXref UMLS:C1826564 ; oboInOwl:hasExactSynonym "PDZD3", "intestine- and kidney-enriched pdz protein", "pdz domain-containing 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79849 ; - skos:exactMatch HGNC_symbol:PDZD3 ; + skos:exactMatch UMLS:C1826564, + HGNC:19891, + HGNC_symbol:PDZD3 ; biolink:category biolink:Gene . OMIM:607147 a owl:Class ; @@ -233114,7 +241514,6 @@ OMIM:607147 a owl:Class ; PMID:16923130, PMID:21798896, PMID:23644483 ; - oboInOwl:hasDbXref UMLS:C1425031 ; oboInOwl:hasExactSynonym "NECTIN3", "nectin 3", "nectin cell adhesion molecule 3", @@ -233122,7 +241521,9 @@ OMIM:607147 a owl:Class ; "poliovirus receptor-related 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25945 ; - skos:exactMatch HGNC_symbol:NECTIN3 ; + skos:exactMatch UMLS:C1425031, + HGNC:17664, + HGNC_symbol:NECTIN3 ; biolink:category biolink:Gene . OMIM:607148 a owl:Class ; @@ -233132,7 +241533,6 @@ OMIM:607148 a owl:Class ; OMIM:607149 a owl:Class ; rdfs:label "REXO2" ; IAO:0000142 PMID:10851236 ; - oboInOwl:hasDbXref UMLS:C1846690 ; oboInOwl:hasExactSynonym "REXO2", "RNA exonuclease 2", "RNA exonuclease 2, s. cerevisiae, homolog of", @@ -233140,7 +241540,9 @@ OMIM:607149 a owl:Class ; "small fragment nuclease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25996 ; - skos:exactMatch HGNC_symbol:REXO2 ; + skos:exactMatch UMLS:C1846690, + HGNC:17851, + HGNC_symbol:REXO2 ; biolink:category biolink:Gene . OMIM:607150 a owl:Class ; @@ -233149,8 +241551,6 @@ OMIM:607150 a owl:Class ; PMID:21512572, PMID:9121764, PMID:9468386 ; - oboInOwl:hasDbXref UMLS:C1425602, - UMLS:C1851464 ; oboInOwl:hasExactSynonym "FEV", "fev transcription factor, ets family member", "fev/ews fusion gene", @@ -233158,7 +241558,10 @@ OMIM:607150 a owl:Class ; "pet1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54738 ; - skos:exactMatch HGNC_symbol:FEV ; + skos:exactMatch UMLS:C1425602, + UMLS:C1851464, + HGNC:18562, + HGNC_symbol:FEV ; biolink:category biolink:Gene . OMIM:607153 a owl:Class ; @@ -233168,7 +241571,6 @@ OMIM:607153 a owl:Class ; PMID:11854171, PMID:9281591, PMID:9813144 ; - oboInOwl:hasDbXref UMLS:C1428333 ; oboInOwl:hasExactSynonym "ITGB1BP1", "icap1a", "icap1b", @@ -233176,7 +241578,9 @@ OMIM:607153 a owl:Class ; "integrin, beta-1, binding protein of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9270 ; - skos:exactMatch HGNC_symbol:ITGB1BP1 ; + skos:exactMatch UMLS:C1428333, + HGNC:23927, + HGNC_symbol:ITGB1BP1 ; biolink:category biolink:Gene . OMIM:607154 a owl:Class ; @@ -233185,9 +241589,9 @@ OMIM:607154 a owl:Class ; PMID:12928861, PMID:16518568, PMID:16525028 ; - oboInOwl:hasDbXref UMLS:C2607914 ; oboInOwl:hasExactSynonym "allergic rhinitis", "alrh" ; + skos:exactMatch UMLS:C2607914 ; biolink:category biolink:Disease . OMIM:607156 a owl:Class ; @@ -233195,25 +241599,27 @@ OMIM:607156 a owl:Class ; IAO:0000142 PMID:10206952, PMID:11587543, PMID:12567189 ; - oboInOwl:hasDbXref UMLS:C1539864 ; oboInOwl:hasExactSynonym "ST3GAL6", "alpha-2,3-sialyltransferase 6", "st3 beta-galactoside alpha-2,3-sialyltransferase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10402 ; - skos:exactMatch HGNC_symbol:ST3GAL6 ; + skos:exactMatch UMLS:C1539864, + HGNC:18080, + HGNC_symbol:ST3GAL6 ; biolink:category biolink:Gene . OMIM:607157 a owl:Class ; rdfs:label "SIGLEC11" ; IAO:0000142 PMID:11986327, PMID:16151003 ; - oboInOwl:hasDbXref UMLS:C1423627 ; oboInOwl:hasExactSynonym "SIGLEC11", "sialic acid-binding immunoglobulin-like lectin 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114132 ; - skos:exactMatch HGNC_symbol:SIGLEC11 ; + skos:exactMatch UMLS:C1423627, + HGNC:15622, + HGNC_symbol:SIGLEC11 ; biolink:category biolink:Gene . OMIM:607158 a owl:Class ; @@ -233222,14 +241628,15 @@ OMIM:607158 a owl:Class ; PMID:20028861, PMID:20833819, PMID:22791709 ; - oboInOwl:hasDbXref UMLS:C1823620 ; oboInOwl:hasExactSynonym "VENTX", "hpx42b", "vent homeobox", "vent-like homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27287 ; - skos:exactMatch HGNC_symbol:VENTX ; + skos:exactMatch UMLS:C1823620, + HGNC:13639, + HGNC_symbol:VENTX ; biolink:category biolink:Gene . OMIM:607159 a owl:Class ; @@ -233241,8 +241648,6 @@ OMIM:607159 a owl:Class ; PMID:30639322 ; RO:0002525 CHR:9606chr10q22.3 ; RO:0003303 OMIM:618659 ; - oboInOwl:hasDbXref UMLS:C1823956, - UMLS:C5231448 ; oboInOwl:hasExactSynonym "ZMIZ1", "kiaa1224", "retinoic acid-induced gene 17", @@ -233250,31 +241655,34 @@ OMIM:607159 a owl:Class ; "zinc finger miz-domain containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57178 ; - skos:exactMatch HGNC_symbol:ZMIZ1 ; + skos:exactMatch UMLS:C1823956, + UMLS:C5231448, + HGNC:16493, + HGNC_symbol:ZMIZ1 ; biolink:category biolink:Gene . OMIM:607160 a owl:Class ; rdfs:label "ATP6V1F" ; IAO:0000142 PMID:8581736 ; - oboInOwl:hasDbXref UMLS:C1424580 ; oboInOwl:hasExactSynonym "ATP6V1F", "atpase, h+ transporting, lysosomal, 14-kd, v1 subunit f", "vacuolar atpase, 14-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9296 ; - skos:exactMatch HGNC_symbol:ATP6V1F ; + skos:exactMatch UMLS:C1424580, + HGNC:16832, + HGNC_symbol:ATP6V1F ; biolink:category biolink:Gene . OMIM:607161 a owl:Class ; rdfs:label "multiple congenital anomalies syndrome with cloverleaf skull" ; IAO:0000142 PMID:12081722 ; - oboInOwl:hasDbXref UMLS:C1846671 ; - oboInOwl:hasExactSynonym "multiple congenital anomalies syndrome with cloverleaf skull" . + oboInOwl:hasExactSynonym "multiple congenital anomalies syndrome with cloverleaf skull" ; + skos:exactMatch UMLS:C1846671 . OMIM:607162 a owl:Class ; rdfs:label "ST8SIA5" ; IAO:0000142 PMID:9199191 ; - oboInOwl:hasDbXref UMLS:C1539877 ; oboInOwl:hasExactSynonym "ST8SIA5", "alpha-2,8-sialyltransferase 5", "sialyltransferase 8e", @@ -233282,7 +241690,9 @@ OMIM:607162 a owl:Class ; "st8sia 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29906 ; - skos:exactMatch HGNC_symbol:ST8SIA5 ; + skos:exactMatch UMLS:C1539877, + HGNC:17827, + HGNC_symbol:ST8SIA5 ; biolink:category biolink:Gene . OMIM:607163 a owl:Class ; @@ -233294,12 +241704,13 @@ OMIM:607163 a owl:Class ; PMID:26307084 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:619781 ; - oboInOwl:hasDbXref UMLS:C1422244 ; oboInOwl:hasExactSynonym "LOXL3", "lysyl oxidase-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84695 ; - skos:exactMatch HGNC_symbol:LOXL3 ; + skos:exactMatch UMLS:C1422244, + HGNC:13869, + HGNC_symbol:LOXL3 ; biolink:category biolink:Gene . OMIM:607164 a owl:Class ; @@ -233307,14 +241718,15 @@ OMIM:607164 a owl:Class ; IAO:0000142 PMID:10473138, PMID:11386758, PMID:9716535 ; - oboInOwl:hasDbXref UMLS:C1423555 ; oboInOwl:hasExactSynonym "LBX2", "ladybird homeobox 2", "ladybird late, drosophila, homolog of, 2", "ladybird-like homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85474 ; - skos:exactMatch HGNC_symbol:LBX2 ; + skos:exactMatch UMLS:C1423555, + HGNC:15525, + HGNC_symbol:LBX2 ; biolink:category biolink:Gene . OMIM:607165 a owl:Class ; @@ -233324,14 +241736,15 @@ OMIM:607165 a owl:Class ; PMID:16120614, PMID:16547497, PMID:26416733 ; - oboInOwl:hasDbXref UMLS:C1822681 ; oboInOwl:hasExactSynonym "SERINC3", "serine incorporator 3", "tms1", "tumor differentially expressed 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10955 ; - skos:exactMatch HGNC_symbol:SERINC3 ; + skos:exactMatch UMLS:C1822681, + HGNC:11699, + HGNC_symbol:SERINC3 ; biolink:category biolink:Gene . OMIM:607166 a owl:Class ; @@ -233343,50 +241756,54 @@ OMIM:607166 a owl:Class ; PMID:28905369 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:617961 ; - oboInOwl:hasDbXref UMLS:C1423060 ; oboInOwl:hasExactSynonym "TSGA10", "testis-specific protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80705 ; - skos:exactMatch HGNC_symbol:TSGA10 ; + skos:exactMatch UMLS:C1423060, + HGNC:14927, + HGNC_symbol:TSGA10 ; biolink:category biolink:Gene . OMIM:607167 a owl:Class ; rdfs:label "DYNLRB1" ; IAO:0000142 PMID:11750132 ; - oboInOwl:hasDbXref UMLS:C1825016 ; oboInOwl:hasExactSynonym "DYNLRB1", "dynein, cytoplasmic, light chain 2a", "dynein, light chain, roadblock type, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83658 ; - skos:exactMatch HGNC_symbol:DYNLRB1 ; + skos:exactMatch UMLS:C1825016, + HGNC:15468, + HGNC_symbol:DYNLRB1 ; biolink:category biolink:Gene . OMIM:607168 a owl:Class ; rdfs:label "DYNLRB2" ; IAO:0000142 PMID:11750132, PMID:15937072 ; - oboInOwl:hasDbXref UMLS:C1825017 ; oboInOwl:hasExactSynonym "DYNLRB2", "dynein, light chain 2b", "dynein, light chain, roadblock type, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83657 ; - skos:exactMatch HGNC_symbol:DYNLRB2 ; + skos:exactMatch UMLS:C1825017, + HGNC:15467, + HGNC_symbol:DYNLRB2 ; biolink:category biolink:Gene . OMIM:607169 a owl:Class ; rdfs:label "PRSS16" ; IAO:0000142 PMID:10527559, PMID:12144812 ; - oboInOwl:hasDbXref UMLS:C1418969 ; oboInOwl:hasExactSynonym "PRSS16", "protease, serine, 16", "thymus-specific serine protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10279 ; - skos:exactMatch HGNC_symbol:PRSS16 ; + skos:exactMatch UMLS:C1418969, + HGNC:9480, + HGNC_symbol:PRSS16 ; biolink:category biolink:Gene . OMIM:607170 a owl:Class ; @@ -233400,24 +241817,26 @@ OMIM:607170 a owl:Class ; PMID:24697899 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:606217 ; - oboInOwl:hasDbXref UMLS:C1422802 ; oboInOwl:hasExactSynonym "CRELD1", "cirrin", "cysteine-rich protein with egf-like domains 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:78987 ; - skos:exactMatch HGNC_symbol:CRELD1 ; + skos:exactMatch UMLS:C1422802, + HGNC:14630, + HGNC_symbol:CRELD1 ; biolink:category biolink:Gene . OMIM:607171 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12137942 ; - oboInOwl:hasDbXref UMLS:C1824790 ; oboInOwl:hasExactSynonym "creld2", "cysteine-rich protein with egf-like domains 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79174 ; - skos:exactMatch HGNC_symbol:CRELD2 ; + skos:exactMatch UMLS:C1824790, + HGNC:28150, + HGNC_symbol:CRELD2 ; biolink:category biolink:Gene . OMIM:607172 a owl:Class ; @@ -233425,28 +241844,30 @@ OMIM:607172 a owl:Class ; IAO:0000142 PMID:11572484, PMID:11741830, PMID:12438709 ; - oboInOwl:hasDbXref UMLS:C1426073 ; oboInOwl:hasExactSynonym "STK11IP", "kiaa1898", "lkb1-interacting protein 1", "serine/threonine kinase 11-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114790 ; - skos:exactMatch HGNC_symbol:STK11IP ; + skos:exactMatch UMLS:C1426073, + HGNC:19184, + HGNC_symbol:STK11IP ; biolink:category biolink:Gene . OMIM:607173 a owl:Class ; rdfs:label "PSMD14" ; IAO:0000142 PMID:12353037, PMID:9374539 ; - oboInOwl:hasDbXref UMLS:C1424617 ; oboInOwl:hasExactSynonym "26s proteasome-associated pad1 homolog", "PSMD14", "pad1, yeast, homolog of", "proteasome 26s subunit, non-atpase, 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10213 ; - skos:exactMatch HGNC_symbol:PSMD14 ; + skos:exactMatch UMLS:C1424617, + HGNC:16889, + HGNC_symbol:PSMD14 ; biolink:category biolink:Gene . OMIM:607175 a owl:Class ; @@ -233455,37 +241876,40 @@ OMIM:607175 a owl:Class ; PMID:11489891, PMID:11896457, PMID:19228121 ; - oboInOwl:hasDbXref UMLS:C1425168 ; oboInOwl:hasExactSynonym "DUSP16", "dual-specificity phosphatase 16", "kiaa1700", "map kinase phosphatase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80824 ; - skos:exactMatch HGNC_symbol:DUSP16 ; + skos:exactMatch UMLS:C1425168, + HGNC:17909, + HGNC_symbol:DUSP16 ; biolink:category biolink:Gene . OMIM:607176 a owl:Class ; rdfs:label "CALN1" ; IAO:0000142 PMID:11286509 ; - oboInOwl:hasDbXref UMLS:C1421903 ; oboInOwl:hasExactSynonym "CALN1", "calneuron 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83698 ; - skos:exactMatch HGNC_symbol:CALN1 ; + skos:exactMatch UMLS:C1421903, + HGNC:13248, + HGNC_symbol:CALN1 ; biolink:category biolink:Gene . OMIM:607177 a owl:Class ; rdfs:label "IER5" ; IAO:0000142 PMID:10049588, PMID:11997341 ; - oboInOwl:hasDbXref UMLS:C1415885 ; oboInOwl:hasExactSynonym "IER5", "immediate-early response gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51278 ; - skos:exactMatch HGNC_symbol:IER5 ; + skos:exactMatch UMLS:C1415885, + HGNC:5393, + HGNC_symbol:IER5 ; biolink:category biolink:Gene . OMIM:607178 a owl:Class ; @@ -233496,14 +241920,15 @@ OMIM:607178 a owl:Class ; PMID:8701988, PMID:9461128, PMID:9815914 ; - oboInOwl:hasDbXref UMLS:C1538615 ; oboInOwl:hasExactSynonym "PDZK1IP1", "dd96", "membrane-associated protein 17", "pdzk1-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10158 ; - skos:exactMatch HGNC_symbol:PDZK1IP1 ; + skos:exactMatch UMLS:C1538615, + HGNC:16887, + HGNC_symbol:PDZK1IP1 ; biolink:category biolink:Gene . OMIM:607179 a owl:Class ; @@ -233513,37 +241938,40 @@ OMIM:607179 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:617629 ; - oboInOwl:hasDbXref UMLS:C1419298 ; oboInOwl:hasExactSynonym "RBM12", "kiaa0765", "rna-binding motif protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10137 ; - skos:exactMatch HGNC_symbol:RBM12 ; + skos:exactMatch UMLS:C1419298, + HGNC:9898, + HGNC_symbol:RBM12 ; biolink:category biolink:Gene . OMIM:607180 a owl:Class ; rdfs:label "LRRC2" ; IAO:0000142 PMID:11896456 ; - oboInOwl:hasDbXref UMLS:C1422832 ; oboInOwl:hasExactSynonym "LRRC2", "leucine-rich repeat-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79442 ; - skos:exactMatch HGNC_symbol:LRRC2 ; + skos:exactMatch UMLS:C1422832, + HGNC:14676, + HGNC_symbol:LRRC2 ; biolink:category biolink:Gene . OMIM:607181 a owl:Class ; rdfs:label "RTP3" ; IAO:0000142 PMID:11896456, PMID:15550249 ; - oboInOwl:hasDbXref UMLS:C1826953 ; oboInOwl:hasExactSynonym "RTP3", "receptor-transporting protein 3", "transmembrane protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83597 ; - skos:exactMatch HGNC_symbol:RTP3 ; + skos:exactMatch UMLS:C1826953, + HGNC:15572, + HGNC_symbol:RTP3 ; biolink:category biolink:Gene . OMIM:607182 a owl:Class ; @@ -233554,36 +241982,39 @@ OMIM:607182 a owl:Class ; PMID:25855459 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:610019 ; - oboInOwl:hasDbXref UMLS:C1422829 ; oboInOwl:hasExactSynonym "FYCO1", "fyve and coiled-coil domain containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79443 ; - skos:exactMatch HGNC_symbol:FYCO1 ; + skos:exactMatch UMLS:C1422829, + HGNC:14673, + HGNC_symbol:FYCO1 ; biolink:category biolink:Gene . OMIM:607183 a owl:Class ; rdfs:label "SEC24A" ; IAO:0000142 PMID:10075675, PMID:10329445 ; - oboInOwl:hasDbXref UMLS:C1419927 ; oboInOwl:hasExactSynonym "SEC24A", "sec24-related gene family, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10802 ; - skos:exactMatch HGNC_symbol:SEC24A ; + skos:exactMatch UMLS:C1419927, + HGNC:10703, + HGNC_symbol:SEC24A ; biolink:category biolink:Gene . OMIM:607184 a owl:Class ; rdfs:label "SEC24B" ; IAO:0000142 PMID:10075675, PMID:10329445 ; - oboInOwl:hasDbXref UMLS:C1419928 ; oboInOwl:hasExactSynonym "SEC24B", "sec24-related gene family, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10427 ; - skos:exactMatch HGNC_symbol:SEC24B ; + skos:exactMatch UMLS:C1419928, + HGNC:10704, + HGNC_symbol:SEC24B ; biolink:category biolink:Gene . OMIM:607185 a owl:Class ; @@ -233593,13 +242024,14 @@ OMIM:607185 a owl:Class ; PMID:10329445, PMID:31273116, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1419929 ; oboInOwl:hasExactSynonym "SEC24C", "kiaa0079", "sec24-related gene family, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9632 ; - skos:exactMatch HGNC_symbol:SEC24C ; + skos:exactMatch UMLS:C1419929, + HGNC:10705, + HGNC_symbol:SEC24C ; biolink:category biolink:Gene . OMIM:607186 a owl:Class ; @@ -233613,13 +242045,14 @@ OMIM:607186 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr4q26 ; RO:0003303 OMIM:616294 ; - oboInOwl:hasDbXref UMLS:C1419930 ; oboInOwl:hasExactSynonym "SEC24D", "kiaa0755", "sec24-related gene family, member d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9871 ; - skos:exactMatch HGNC_symbol:SEC24D ; + skos:exactMatch UMLS:C1419930, + HGNC:10706, + HGNC_symbol:SEC24D ; biolink:category biolink:Gene . OMIM:607187 a owl:Class ; @@ -233629,14 +242062,15 @@ OMIM:607187 a owl:Class ; PMID:17206149, PMID:7655169, PMID:8027041 ; - oboInOwl:hasDbXref UMLS:C1539859 ; oboInOwl:hasExactSynonym "ST3GAL1", "sialyltransferase 4a", "st3 beta-galactoside alpha-2,3-sialyltransferase 1", "st3o" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6482 ; - skos:exactMatch HGNC_symbol:ST3GAL1 ; + skos:exactMatch UMLS:C1539859, + HGNC:10862, + HGNC_symbol:ST3GAL1 ; biolink:category biolink:Gene . OMIM:607188 a owl:Class ; @@ -233646,13 +242080,14 @@ OMIM:607188 a owl:Class ; PMID:7655169, PMID:8920913, PMID:9266697 ; - oboInOwl:hasDbXref UMLS:C1539860 ; oboInOwl:hasExactSynonym "ST3GAL2", "sialyltransferase 4b", "st3 beta-galactoside alpha-2,3-sialyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6483 ; - skos:exactMatch HGNC_symbol:ST3GAL2 ; + skos:exactMatch UMLS:C1539860, + HGNC:10863, + HGNC_symbol:ST3GAL2 ; biolink:category biolink:Gene . OMIM:607189 a owl:Class ; @@ -233660,12 +242095,13 @@ OMIM:607189 a owl:Class ; IAO:0000142 PMID:11318611, PMID:11829488, PMID:12110731 ; - oboInOwl:hasDbXref UMLS:C1424563 ; oboInOwl:hasExactSynonym "RGS8", "regulator of g protein signaling 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85397 ; - skos:exactMatch HGNC_symbol:RGS8 ; + skos:exactMatch UMLS:C1424563, + HGNC:16810, + HGNC_symbol:RGS8 ; biolink:category biolink:Gene . OMIM:607190 a owl:Class ; @@ -233673,36 +242109,39 @@ OMIM:607190 a owl:Class ; IAO:0000142 PMID:11829488, PMID:11875076, PMID:12193720 ; - oboInOwl:hasDbXref UMLS:C1419371 ; oboInOwl:hasExactSynonym "RGS13", "regulator of g protein signaling 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6003 ; - skos:exactMatch HGNC_symbol:RGS13 ; + skos:exactMatch UMLS:C1419371, + HGNC:9995, + HGNC_symbol:RGS13 ; biolink:category biolink:Gene . OMIM:607191 a owl:Class ; rdfs:label "RGS17" ; IAO:0000142 PMID:11829488 ; - oboInOwl:hasDbXref UMLS:C1422398 ; oboInOwl:hasExactSynonym "RGS17", "regulator of g protein signaling 17", "rgsz2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26575 ; - skos:exactMatch HGNC_symbol:RGS17 ; + skos:exactMatch UMLS:C1422398, + HGNC:14088, + HGNC_symbol:RGS17 ; biolink:category biolink:Gene . OMIM:607192 a owl:Class ; rdfs:label "RGS18" ; IAO:0000142 PMID:11042171, PMID:11829488 ; - oboInOwl:hasDbXref UMLS:C1422522 ; oboInOwl:hasExactSynonym "RGS18", "regulator of g protein signaling 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64407 ; - skos:exactMatch HGNC_symbol:RGS18 ; + skos:exactMatch UMLS:C1422522, + HGNC:14261, + HGNC_symbol:RGS18 ; biolink:category biolink:Gene . OMIM:607193 a owl:Class ; @@ -233712,14 +242151,15 @@ OMIM:607193 a owl:Class ; PMID:9038185, PMID:9748279, PMID:9748280 ; - oboInOwl:hasDbXref UMLS:C1422781 ; oboInOwl:hasExactSynonym "RGS20", "regulator of g protein signaling 20", "ret-rgs isoform", "rgsz1 isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8601 ; - skos:exactMatch HGNC_symbol:RGS20 ; + skos:exactMatch UMLS:C1422781, + HGNC:14600, + HGNC_symbol:RGS20 ; biolink:category biolink:Gene . OMIM:607194 a owl:Class ; @@ -233737,14 +242177,15 @@ OMIM:607194 a owl:Class ; PMID:9851981 ; RO:0002525 CHR:9606chr10p12.2 ; RO:0003303 OMIM:609069 ; - oboInOwl:hasDbXref UMLS:C1428235, - UMLS:C1836780 ; oboInOwl:hasExactSynonym "PTF1A", "pancreas transcription factor 1, alpha subunit", "ptf1-p48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256297 ; - skos:exactMatch HGNC_symbol:PTF1A ; + skos:exactMatch UMLS:C1428235, + UMLS:C1836780, + HGNC:23734, + HGNC_symbol:PTF1A ; biolink:category biolink:Gene . OMIM:607195 a owl:Class ; @@ -233756,21 +242197,21 @@ OMIM:607196 a owl:Class ; IAO:0000142 PMID:12185364, PMID:12376931, PMID:20583149 ; - oboInOwl:hasDbXref UMLS:C1846648, - ORPHA:99742 ; oboInOwl:hasExactSynonym "MCPHA", "amish lethal microcephaly", "microcephaly, amish iia", "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" ; rdfs:subClassOf OMIMPS:249270 ; + skos:exactMatch UMLS:C1846648, + ORPHA:99742 ; biolink:category biolink:Disease . OMIM:607197 a owl:Class ; rdfs:label "deafness, autosomal recessive" ; IAO:0000142 PMID:11741837, PMID:12457340 ; - oboInOwl:hasDbXref UMLS:C1846647 ; - oboInOwl:hasExactSynonym "deafness, autosomal recessive" . + oboInOwl:hasExactSynonym "deafness, autosomal recessive" ; + skos:exactMatch UMLS:C1846647 . OMIM:607198 a owl:Class ; rdfs:label "TDP1" ; @@ -233781,12 +242222,13 @@ OMIM:607198 a owl:Class ; PMID:15744309 ; RO:0002525 CHR:9606chr14q32.11 ; RO:0003303 OMIM:607250 ; - oboInOwl:hasDbXref UMLS:C1425854 ; oboInOwl:hasExactSynonym "TDP1", "tyrosyl-dna phosphodiesterase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55775 ; - skos:exactMatch HGNC_symbol:TDP1 ; + skos:exactMatch UMLS:C1425854, + HGNC:18884, + HGNC_symbol:TDP1 ; biolink:category biolink:Gene . OMIM:607199 a owl:Class ; @@ -233814,14 +242256,15 @@ OMIM:607199 a owl:Class ; PMID:31578523 ; RO:0002525 CHR:9606chr1q32.2 ; RO:0003303 OMIM:608864 ; - oboInOwl:hasDbXref UMLS:C0265259, - UMLS:C1416474, - UMLS:C4551864 ; oboInOwl:hasExactSynonym "IRF6", "interferon regulatory factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3664 ; - skos:exactMatch HGNC_symbol:IRF6 ; + skos:exactMatch UMLS:C0265259, + UMLS:C1416474, + UMLS:C4551864, + HGNC:6121, + HGNC_symbol:IRF6 ; biolink:category biolink:Gene . OMIM:607201 a owl:Class ; @@ -233830,13 +242273,14 @@ OMIM:607201 a owl:Class ; PMID:11773003, PMID:20167579, PMID:9421497 ; - oboInOwl:hasDbXref UMLS:C1415648 ; oboInOwl:hasExactSynonym "HNRNPR", "heterogeneous nuclear ribonucleoprotein r", "hnrpr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10236 ; - skos:exactMatch HGNC_symbol:HNRNPR ; + skos:exactMatch UMLS:C1415648, + HGNC:5047, + HGNC_symbol:HNRNPR ; biolink:category biolink:Gene . OMIM:607203 a owl:Class ; @@ -233845,14 +242289,15 @@ OMIM:607203 a owl:Class ; PMID:12202036, PMID:21512031, PMID:28976966 ; - oboInOwl:hasDbXref UMLS:C1425082 ; oboInOwl:hasExactSynonym "SAV1", "salvador family, ww domain-containing protein 1", "salvador, drosophila, homolog of", "ww domain-containing protein, 45-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60485 ; - skos:exactMatch HGNC_symbol:SAV1 ; + skos:exactMatch UMLS:C1425082, + HGNC:17795, + HGNC_symbol:SAV1 ; biolink:category biolink:Gene . OMIM:607204 a owl:Class ; @@ -233864,14 +242309,15 @@ OMIM:607204 a owl:Class ; PMID:7788527 ; RO:0002525 CHR:9606chr1p35.2 ; RO:0003303 OMIM:617931 ; - oboInOwl:hasDbXref UMLS:C1423086 ; oboInOwl:hasExactSynonym "PUM1", "kiaa0099", "pumilio RNA binding family member 1", "pumilio, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9698 ; - skos:exactMatch HGNC_symbol:PUM1 ; + skos:exactMatch UMLS:C1423086, + HGNC:14957, + HGNC_symbol:PUM1 ; biolink:category biolink:Gene . OMIM:607205 a owl:Class ; @@ -233881,14 +242327,15 @@ OMIM:607205 a owl:Class ; PMID:25349211, PMID:26724866, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1423087 ; oboInOwl:hasExactSynonym "PUM2", "kiaa0235", "pumilio RNA binding family member 2", "pumilio, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23369 ; - skos:exactMatch HGNC_symbol:PUM2 ; + skos:exactMatch UMLS:C1423087, + HGNC:14958, + HGNC_symbol:PUM2 ; biolink:category biolink:Gene . OMIM:607206 a owl:Class ; @@ -233902,14 +242349,15 @@ OMIM:607206 a owl:Class ; PMID:19890349 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:606545 ; - oboInOwl:hasDbXref UMLS:C1422178 ; oboInOwl:hasExactSynonym "ALOXE3", "arachidonate lipoxygenase 3", "lipoxygenase iia 3, epidermal", "lox iia 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59344 ; - skos:exactMatch HGNC_symbol:ALOXE3 ; + skos:exactMatch UMLS:C1422178, + HGNC:13743, + HGNC_symbol:ALOXE3 ; biolink:category biolink:Gene . OMIM:607207 a owl:Class ; @@ -233941,13 +242389,14 @@ OMIM:607207 a owl:Class ; PMID:33417001 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:615768 ; - oboInOwl:hasDbXref UMLS:C1420492 ; oboInOwl:hasExactSynonym "STUB1", "c terminus of hsc70-interacting protein", "stip1 homologous and u box-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10273 ; - skos:exactMatch HGNC_symbol:STUB1 ; + skos:exactMatch UMLS:C1420492, + HGNC:11427, + HGNC_symbol:STUB1 ; biolink:category biolink:Gene . OMIM:607208 a owl:Class ; @@ -233987,14 +242436,14 @@ OMIM:607208 a owl:Class ; PMID:27544470, PMID:28880996, PMID:9810557 ; - oboInOwl:hasDbXref UMLS:C0751122, - ORPHA:33069 ; oboInOwl:hasExactSynonym "DRVT", "developmental and epileptic encephalopathy 6a", "dravet syndrome", "epileptic encephalopathy, early infantile, 6", "severe myoclonic epilepsy of infancy" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C0751122, + ORPHA:33069 ; biolink:category biolink:Disease . OMIM:607209 a owl:Class ; @@ -234005,14 +242454,15 @@ OMIM:607209 a owl:Class ; PMID:17438001 ; RO:0002525 CHR:9606chr22q13.1 ; RO:0003303 OMIM:619632 ; - oboInOwl:hasDbXref UMLS:C1424267 ; oboInOwl:hasExactSynonym "CARD10", "bcl10-interacting maguk protein 1", "card-maguk protein 3", "caspase recruitment domain-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29775 ; - skos:exactMatch HGNC_symbol:CARD10 ; + skos:exactMatch UMLS:C1424267, + HGNC:16422, + HGNC_symbol:CARD10 ; biolink:category biolink:Gene . OMIM:607210 a owl:Class ; @@ -234039,17 +242489,18 @@ OMIM:607210 a owl:Class ; PMID:28628108 ; RO:0002525 CHR:9606chr7p22.2 ; RO:0003303 OMIM:617638 ; - oboInOwl:hasDbXref UMLS:C1424244, - UMLS:C4539957, - UMLS:C4540578, - UMLS:C4551967 ; oboInOwl:hasExactSynonym "CARD11", "bcl10-interacting maguk protein 3", "card-maguk protein 1", "caspase recruitment domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84433 ; - skos:exactMatch HGNC_symbol:CARD11 ; + skos:exactMatch UMLS:C1424244, + UMLS:C4539957, + UMLS:C4540578, + UMLS:C4551967, + HGNC:16393, + HGNC_symbol:CARD11 ; biolink:category biolink:Gene . OMIM:607211 a owl:Class ; @@ -234066,17 +242517,18 @@ OMIM:607211 a owl:Class ; PMID:8178173 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:602723 ; - oboInOwl:hasDbXref UMLS:C0032027, - UMLS:C1424286, - UMLS:C1864497, - UMLS:C4017074 ; oboInOwl:hasExactSynonym "CARD14", "bcl10-interacting maguk protein 2", "card-maguk protein 2", "caspase recruitment domain-containing protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79092 ; - skos:exactMatch HGNC_symbol:CARD14 ; + skos:exactMatch UMLS:C0032027, + UMLS:C1424286, + UMLS:C1864497, + UMLS:C4017074, + HGNC:16446, + HGNC_symbol:CARD14 ; biolink:category biolink:Gene . OMIM:607212 a owl:Class ; @@ -234093,12 +242545,13 @@ OMIM:607212 a owl:Class ; PMID:9835960 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:212050 ; - oboInOwl:hasDbXref UMLS:C1424242 ; oboInOwl:hasExactSynonym "CARD9", "caspase recruitment domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64170 ; - skos:exactMatch HGNC_symbol:CARD9 ; + skos:exactMatch UMLS:C1424242, + HGNC:16391, + HGNC_symbol:CARD9 ; biolink:category biolink:Gene . OMIM:607213 a owl:Class ; @@ -234112,21 +242565,22 @@ OMIM:607213 a owl:Class ; PMID:7710253 ; RO:0002525 CHR:9606chr16q11.2 ; RO:0003303 OMIM:613803 ; - oboInOwl:hasDbXref UMLS:C1335088 ; oboInOwl:hasExactSynonym "ORC6", "orc6-like", "origin recognition complex, subunit 6", "origin recognition complex, subunit 6, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23594 ; - skos:exactMatch HGNC_symbol:ORC6 ; + skos:exactMatch UMLS:C1335088, + HGNC:17151, + HGNC_symbol:ORC6 ; biolink:category biolink:Gene . OMIM:607214 a owl:Class ; rdfs:label "anonychia, total, with microcephaly" ; IAO:0000142 PMID:8985482 ; - oboInOwl:hasDbXref UMLS:C1846617 ; - oboInOwl:hasExactSynonym "anonychia, total, with microcephaly" . + oboInOwl:hasExactSynonym "anonychia, total, with microcephaly" ; + skos:exactMatch UMLS:C1846617 . OMIM:607215 a owl:Class ; rdfs:label "NPHP4" ; @@ -234142,27 +242596,29 @@ OMIM:607215 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr1p36.31 ; RO:0003303 OMIM:606996 ; - oboInOwl:hasDbXref UMLS:C1426011 ; oboInOwl:hasExactSynonym "NPHP4", "kiaa0673", "nephrocystin 4", "nephroretinin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:261734 ; - skos:exactMatch HGNC_symbol:NPHP4 ; + skos:exactMatch UMLS:C1426011, + HGNC:19104, + HGNC_symbol:NPHP4 ; biolink:category biolink:Gene . OMIM:607216 a owl:Class ; rdfs:label "SDK1" ; IAO:0000142 PMID:12230981, PMID:18216854 ; - oboInOwl:hasDbXref UMLS:C1426154 ; oboInOwl:hasExactSynonym "SDK1", "sidekick cell adhesion molecule 1", "sidekick, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221935 ; - skos:exactMatch HGNC_symbol:SDK1 ; + skos:exactMatch UMLS:C1426154, + HGNC:19307, + HGNC_symbol:SDK1 ; biolink:category biolink:Gene . OMIM:607217 a owl:Class ; @@ -234170,14 +242626,15 @@ OMIM:607217 a owl:Class ; IAO:0000142 PMID:12230981, PMID:18216854, PMID:26287463 ; - oboInOwl:hasDbXref UMLS:C1426155 ; oboInOwl:hasExactSynonym "SDK2", "kiaa1514", "sidekick cell adhesion molecule 2", "sidekick, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54549 ; - skos:exactMatch HGNC_symbol:SDK2 ; + skos:exactMatch UMLS:C1426155, + HGNC:19308, + HGNC_symbol:SDK2 ; biolink:category biolink:Gene . OMIM:607218 a owl:Class ; @@ -234200,50 +242657,54 @@ OMIM:607218 a owl:Class ; PMID:30630901 ; RO:0002525 CHR:9606chr7q32.1 ; RO:0003303 OMIM:612251 ; - oboInOwl:hasDbXref UMLS:C1416473 ; oboInOwl:hasExactSynonym "IRF5", "interferon regulatory factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3663 ; - skos:exactMatch HGNC_symbol:IRF5 ; + skos:exactMatch UMLS:C1416473, + HGNC:6120, + HGNC_symbol:IRF5 ; biolink:category biolink:Gene . OMIM:607219 a owl:Class ; rdfs:label "CNTN5" ; IAO:0000142 PMID:11013081 ; - oboInOwl:hasDbXref UMLS:C1413563 ; oboInOwl:hasExactSynonym "CNTN5", "contactin 5", "nb2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53942 ; - skos:exactMatch HGNC_symbol:CNTN5 ; + skos:exactMatch UMLS:C1413563, + HGNC:2175, + HGNC_symbol:CNTN5 ; biolink:category biolink:Gene . OMIM:607220 a owl:Class ; rdfs:label "CNTN6" ; IAO:0000142 PMID:10717476, PMID:9486763 ; - oboInOwl:hasDbXref UMLS:C1413564 ; oboInOwl:hasExactSynonym "CNTN6", "contactin 6", "nb3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27255 ; - skos:exactMatch HGNC_symbol:CNTN6 ; + skos:exactMatch UMLS:C1413564, + HGNC:2176, + HGNC_symbol:CNTN6 ; biolink:category biolink:Gene . OMIM:607222 a owl:Class ; rdfs:label "FBXO18" ; IAO:0000142 PMID:11956208, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422110 ; oboInOwl:hasExactSynonym "FBXO18", "f-box DNA helicase 1", "f-box only protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84893 ; - skos:exactMatch HGNC_symbol:FBH1 ; + skos:exactMatch UMLS:C1422110, + HGNC:13620, + HGNC_symbol:FBH1 ; biolink:category biolink:Gene . OMIM:607223 a owl:Class ; @@ -234253,150 +242714,162 @@ OMIM:607223 a owl:Class ; PMID:23317772 ; RO:0002525 CHR:9606chr6q27 ; RO:0003303 OMIM:125400 ; - oboInOwl:hasDbXref UMLS:C1426859 ; oboInOwl:hasExactSynonym "SMOC2", "secreted modular calcium-binding protein 2", "smooth muscle-associated protein 2", "sparc-related modular calcium-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64094 ; - skos:exactMatch HGNC_symbol:SMOC2 ; + skos:exactMatch UMLS:C1426859, + HGNC:20323, + HGNC_symbol:SMOC2 ; biolink:category biolink:Gene . OMIM:607224 a owl:Class ; rdfs:label "ORAOV1" ; IAO:0000142 PMID:12172009 ; - oboInOwl:hasDbXref UMLS:C1425006 ; oboInOwl:hasExactSynonym "ORAOV1", "oral cancer overexpressed gene 1", "tumor amplified and overexpressed sequence 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220064 ; - skos:exactMatch HGNC_symbol:LTO1 ; + skos:exactMatch UMLS:C1425006, + HGNC:17589, + HGNC_symbol:LTO1 ; biolink:category biolink:Gene . OMIM:607226 a owl:Class ; rdfs:label "HDAC11" ; IAO:0000142 PMID:11948178, PMID:30819897 ; - oboInOwl:hasDbXref UMLS:C1426002 ; oboInOwl:hasExactSynonym "HDAC11", "histone deacetylase 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79885 ; - skos:exactMatch HGNC_symbol:HDAC11 ; + skos:exactMatch UMLS:C1426002, + HGNC:19086, + HGNC_symbol:HDAC11 ; biolink:category biolink:Gene . OMIM:607227 a owl:Class ; rdfs:label "MRGPRX1" ; IAO:0000142 PMID:11551509, PMID:20004959 ; - oboInOwl:hasDbXref UMLS:C1826279 ; oboInOwl:hasExactSynonym "MRGPRX1", "mas-related g protein-coupled receptor family, member x1", "mrgx1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259249 ; - skos:exactMatch HGNC_symbol:MRGPRX1 ; + skos:exactMatch UMLS:C1826279, + HGNC:17962, + HGNC_symbol:MRGPRX1 ; biolink:category biolink:Gene . OMIM:607228 a owl:Class ; rdfs:label "MRGPRX2" ; IAO:0000142 PMID:11551509, PMID:22069323 ; - oboInOwl:hasDbXref UMLS:C1826280 ; oboInOwl:hasExactSynonym "MRGPRX2", "mas-related g protein-coupled receptor family, member x2", "mrgx2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117194 ; - skos:exactMatch HGNC_symbol:MRGPRX2 ; + skos:exactMatch UMLS:C1826280, + HGNC:17983, + HGNC_symbol:MRGPRX2 ; biolink:category biolink:Gene . OMIM:607229 a owl:Class ; rdfs:label "MRGPRX3" ; IAO:0000142 PMID:11551509 ; - oboInOwl:hasDbXref UMLS:C1826281 ; oboInOwl:hasExactSynonym "MRGPRX3", "mas-related g protein-coupled receptor family, member x3", "mrgx3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117195 ; - skos:exactMatch HGNC_symbol:MRGPRX3 ; + skos:exactMatch UMLS:C1826281, + HGNC:17980, + HGNC_symbol:MRGPRX3 ; biolink:category biolink:Gene . OMIM:607230 a owl:Class ; rdfs:label "MRGPRX4" ; IAO:0000142 PMID:11551509 ; - oboInOwl:hasDbXref UMLS:C1826282 ; oboInOwl:hasExactSynonym "MRGPRX4", "mas-related g protein-coupled receptor family, member x4", "mrgx4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117196 ; - skos:exactMatch HGNC_symbol:MRGPRX4 ; + skos:exactMatch UMLS:C1826282, + HGNC:17617, + HGNC_symbol:MRGPRX4 ; biolink:category biolink:Gene . OMIM:607231 a owl:Class ; rdfs:label "MRGPRD" ; IAO:0000142 PMID:11551509 ; - oboInOwl:hasDbXref UMLS:C1428882 ; oboInOwl:hasExactSynonym "MRGPRD", "mas-related g protein-coupled receptor family, member d", "mrgd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116512 ; - skos:exactMatch HGNC_symbol:MRGPRD ; + skos:exactMatch UMLS:C1428882, + HGNC:29626, + HGNC_symbol:MRGPRD ; biolink:category biolink:Gene . OMIM:607232 a owl:Class ; rdfs:label "MRGPRE" ; IAO:0000142 PMID:11551509 ; - oboInOwl:hasDbXref UMLS:C1428991 ; oboInOwl:hasExactSynonym "MRGPRE", "mas-related g protein-coupled receptor family, member e", "mrge" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116534 ; - skos:exactMatch HGNC_symbol:MRGPRE ; + skos:exactMatch UMLS:C1428991, + HGNC:30694, + HGNC_symbol:MRGPRE ; biolink:category biolink:Gene . OMIM:607233 a owl:Class ; rdfs:label "MRGPRF" ; IAO:0000142 PMID:11551509, PMID:2109324 ; - oboInOwl:hasDbXref UMLS:C1428415 ; oboInOwl:hasExactSynonym "MRGPRF", "mas-related g protein-coupled receptor family, member f", "mrgf", "rat thoracic artery protein, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116535 ; - skos:exactMatch HGNC_symbol:MRGPRF ; + skos:exactMatch UMLS:C1428415, + HGNC:24828, + HGNC_symbol:MRGPRF ; biolink:category biolink:Gene . OMIM:607234 a owl:Class ; rdfs:label "MRGPRG" ; IAO:0000142 PMID:11551509 ; - oboInOwl:hasDbXref UMLS:C1428416 ; oboInOwl:hasExactSynonym "MRGPRG", "mas-related g protein-coupled receptor family, member g", "mrgg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:386746 ; - skos:exactMatch HGNC_symbol:MRGPRG ; + skos:exactMatch UMLS:C1428416, + HGNC:24829, + HGNC_symbol:MRGPRG ; biolink:category biolink:Gene . OMIM:607235 a owl:Class ; rdfs:label "MAS1L" ; IAO:0000142 PMID:11551509 ; - oboInOwl:hasDbXref UMLS:C1422304 ; oboInOwl:hasExactSynonym "MAS1L", "mas1 oncogene-like", "mrg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116511 ; - skos:exactMatch HGNC_symbol:MAS1L ; + skos:exactMatch UMLS:C1422304, + HGNC:13961, + HGNC_symbol:MAS1L ; biolink:category biolink:Gene . OMIM:607236 a owl:Class ; @@ -234405,10 +242878,10 @@ OMIM:607236 a owl:Class ; PMID:14638969, PMID:1734303, PMID:7898702 ; - oboInOwl:hasDbXref UMLS:C1846582, - ORPHA:157855 ; oboInOwl:hasExactSynonym "harp syndrome", "hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration" ; + skos:exactMatch UMLS:C1846582, + ORPHA:157855 ; biolink:category biolink:Disease . OMIM:607237 a owl:Class ; @@ -234419,12 +242892,13 @@ OMIM:607237 a owl:Class ; PMID:8593615 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:600971 ; - oboInOwl:hasDbXref UMLS:C1540023 ; oboInOwl:hasExactSynonym "TMIE", "transmembrane inner ear-expressed gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259236 ; - skos:exactMatch HGNC_symbol:TMIE ; + skos:exactMatch UMLS:C1540023, + HGNC:30800, + HGNC_symbol:TMIE ; biolink:category biolink:Gene . OMIM:607238 a owl:Class ; @@ -234441,14 +242915,15 @@ OMIM:607238 a owl:Class ; PMID:31537807, PMID:7065120, PMID:9949209 ; - oboInOwl:hasDbXref UMLS:C1427858 ; oboInOwl:hasExactSynonym "COMMD1", "comm domain-containing protein 1", "copper metabolism gene murr1", "copper metabolism murr1 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150684 ; - skos:exactMatch HGNC_symbol:COMMD1 ; + skos:exactMatch UMLS:C1427858, + HGNC:23024, + HGNC_symbol:COMMD1 ; biolink:category biolink:Gene . OMIM:607240 a owl:Class ; @@ -234458,7 +242933,6 @@ OMIM:607240 a owl:Class ; PMID:19789321, PMID:21983900, PMID:22583696 ; - oboInOwl:hasDbXref UMLS:C1822692 ; oboInOwl:hasExactSynonym "KMT5A", "histone h4-lysine 20-specific methyltransferase", "lysine methyltransferase 5a", @@ -234468,32 +242942,36 @@ OMIM:607240 a owl:Class ; "set8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387893 ; - skos:exactMatch HGNC_symbol:KMT5A ; + skos:exactMatch UMLS:C1822692, + HGNC:29489, + HGNC_symbol:KMT5A ; biolink:category biolink:Gene . OMIM:607241 a owl:Class ; rdfs:label "FDCSP" ; IAO:0000142 PMID:12193705 ; - oboInOwl:hasDbXref UMLS:C1426092 ; oboInOwl:hasExactSynonym "FDCSP", "chromosome 4 open reading frame 7", "follicular dendritic cell secreted protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:260436 ; - skos:exactMatch HGNC_symbol:FDCSP ; + skos:exactMatch UMLS:C1426092, + HGNC:19215, + HGNC_symbol:FDCSP ; biolink:category biolink:Gene . OMIM:607242 a owl:Class ; rdfs:label "AP2A2" ; IAO:0000142 PMID:10048485, PMID:9700202 ; - oboInOwl:hasDbXref UMLS:C1412442 ; oboInOwl:hasExactSynonym "AP2A2", "adaptor-related protein complex 2, alpha-2 subunit", "kiaa0899" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161 ; - skos:exactMatch HGNC_symbol:AP2A2 ; + skos:exactMatch UMLS:C1412442, + HGNC:562, + HGNC_symbol:AP2A2 ; biolink:category biolink:Gene . OMIM:607243 a owl:Class ; @@ -234504,12 +242982,13 @@ OMIM:607243 a owl:Class ; PMID:25552650 ; RO:0002525 CHR:9606chr14q12 ; RO:0003303 OMIM:614067 ; - oboInOwl:hasDbXref UMLS:C1412455 ; oboInOwl:hasExactSynonym "AP4S1", "adaptor-related protein complex 4, sigma-1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11154 ; - skos:exactMatch HGNC_symbol:AP4S1 ; + skos:exactMatch UMLS:C1412455, + HGNC:575, + HGNC_symbol:AP4S1 ; biolink:category biolink:Gene . OMIM:607244 a owl:Class ; @@ -234524,12 +243003,13 @@ OMIM:607244 a owl:Class ; PMID:29698489 ; RO:0002525 CHR:9606chr15q21.2 ; RO:0003303 OMIM:184450 ; - oboInOwl:hasDbXref UMLS:C1412453 ; oboInOwl:hasExactSynonym "AP4E1", "adaptor-related protein complex 4, epsilon-1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23431 ; - skos:exactMatch HGNC_symbol:AP4E1 ; + skos:exactMatch UMLS:C1412453, + HGNC:573, + HGNC_symbol:AP4E1 ; biolink:category biolink:Gene . OMIM:607245 a owl:Class ; @@ -234543,12 +243023,13 @@ OMIM:607245 a owl:Class ; PMID:24781758 ; RO:0002525 CHR:9606chr1p13.2 ; RO:0003303 OMIM:614066 ; - oboInOwl:hasDbXref UMLS:C1412452 ; oboInOwl:hasExactSynonym "AP4B1", "adaptor-related protein complex 4, beta-1 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10717 ; - skos:exactMatch HGNC_symbol:AP4B1 ; + skos:exactMatch UMLS:C1412452, + HGNC:572, + HGNC_symbol:AP4B1 ; biolink:category biolink:Gene . OMIM:607246 a owl:Class ; @@ -234560,7 +243041,6 @@ OMIM:607246 a owl:Class ; PMID:9697856 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:617050 ; - oboInOwl:hasDbXref UMLS:C1412448 ; oboInOwl:hasExactSynonym "AP3D1", "adaptin, delta", "adaptor-related protein complex 3, delta-1 subunit", @@ -234568,18 +243048,21 @@ OMIM:607246 a owl:Class ; "mocha, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8943 ; - skos:exactMatch HGNC_symbol:AP3D1 ; + skos:exactMatch UMLS:C1412448, + HGNC:568, + HGNC_symbol:AP3D1 ; biolink:category biolink:Gene . OMIM:607247 a owl:Class ; rdfs:label "CHODL" ; IAO:0000142 PMID:12079284 ; - oboInOwl:hasDbXref UMLS:C1425091 ; oboInOwl:hasExactSynonym "CHODL", "chondrolectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140578 ; - skos:exactMatch HGNC_symbol:CHODL ; + skos:exactMatch UMLS:C1425091, + HGNC:17807, + HGNC_symbol:CHODL ; biolink:category biolink:Gene . OMIM:607249 a owl:Class ; @@ -234592,12 +243075,13 @@ OMIM:607249 a owl:Class ; PMID:20551230, PMID:23530196, PMID:30629171 ; - oboInOwl:hasDbXref UMLS:C1425793 ; oboInOwl:hasExactSynonym "CATSPER2", "cation channel, sperm-associated, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117155 ; - skos:exactMatch HGNC_symbol:CATSPER2 ; + skos:exactMatch UMLS:C1425793, + HGNC:18810, + HGNC_symbol:CATSPER2 ; biolink:category biolink:Gene . OMIM:607251 a owl:Class ; @@ -234609,14 +243093,15 @@ OMIM:607251 a owl:Class ; PMID:32142709 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:618851 ; - oboInOwl:hasDbXref UMLS:C1424897, - UMLS:C5394284 ; oboInOwl:hasExactSynonym "TIMM22", "tim22, yeast, homolog of", "translocase of inner mitochondrial membrane 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29928 ; - skos:exactMatch HGNC_symbol:TIMM22 ; + skos:exactMatch UMLS:C1424897, + UMLS:C5394284, + HGNC:17317, + HGNC_symbol:TIMM22 ; biolink:category biolink:Gene . OMIM:607252 a owl:Class ; @@ -234627,13 +243112,14 @@ OMIM:607252 a owl:Class ; PMID:11944986 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1412486 ; oboInOwl:hasExactSynonym "APOL2", "apol-ii", "apolipoprotein l-ii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23780 ; - skos:exactMatch HGNC_symbol:APOL2 ; + skos:exactMatch UMLS:C1412486, + HGNC:619, + HGNC_symbol:APOL2 ; biolink:category biolink:Gene . OMIM:607253 a owl:Class ; @@ -234643,13 +243129,14 @@ OMIM:607253 a owl:Class ; PMID:11374903, PMID:11930015, PMID:11944986 ; - oboInOwl:hasDbXref UMLS:C1423011 ; oboInOwl:hasExactSynonym "APOL3", "apol-iii", "apolipoprotein l-iii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80833 ; - skos:exactMatch HGNC_symbol:APOL3 ; + skos:exactMatch UMLS:C1423011, + HGNC:14868, + HGNC_symbol:APOL3 ; biolink:category biolink:Gene . OMIM:607254 a owl:Class ; @@ -234660,13 +243147,14 @@ OMIM:607254 a owl:Class ; PMID:11944986 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1423010 ; oboInOwl:hasExactSynonym "APOL4", "apol-iv", "apolipoprotein l-iv" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80832 ; - skos:exactMatch HGNC_symbol:APOL4 ; + skos:exactMatch UMLS:C1423010, + HGNC:14867, + HGNC_symbol:APOL4 ; biolink:category biolink:Gene . OMIM:607255 a owl:Class ; @@ -234674,13 +243162,14 @@ OMIM:607255 a owl:Class ; IAO:0000142 PMID:11374903, PMID:11930015, PMID:11944986 ; - oboInOwl:hasDbXref UMLS:C1423012 ; oboInOwl:hasExactSynonym "APOL5", "apol-v", "apolipoprotein l-v" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80831 ; - skos:exactMatch HGNC_symbol:APOL5 ; + skos:exactMatch UMLS:C1423012, + HGNC:14869, + HGNC_symbol:APOL5 ; biolink:category biolink:Gene . OMIM:607256 a owl:Class ; @@ -234688,13 +243177,14 @@ OMIM:607256 a owl:Class ; IAO:0000142 PMID:11374903, PMID:11930015, PMID:11944986 ; - oboInOwl:hasDbXref UMLS:C1423013 ; oboInOwl:hasExactSynonym "APOL6", "apol-vi", "apolipoprotein l-vi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80830 ; - skos:exactMatch HGNC_symbol:APOL6 ; + skos:exactMatch UMLS:C1423013, + HGNC:14870, + HGNC_symbol:APOL6 ; biolink:category biolink:Gene . OMIM:607257 a owl:Class ; @@ -234715,25 +243205,27 @@ OMIM:607257 a owl:Class ; PMID:9755172 ; RO:0002525 CHR:9606chr11p15.2 ; RO:0003303 OMIM:618971 ; - oboInOwl:hasDbXref UMLS:C1424266, - UMLS:C2986382, - UMLS:C5436509 ; oboInOwl:hasExactSynonym "SOX6", "sry-box 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55553 ; - skos:exactMatch HGNC_symbol:SOX6 ; + skos:exactMatch UMLS:C1424266, + UMLS:C2986382, + UMLS:C5436509, + HGNC:16421, + HGNC_symbol:SOX6 ; biolink:category biolink:Gene . OMIM:607260 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:11997112 ; - oboInOwl:hasDbXref UMLS:C1537568 ; oboInOwl:hasExactSynonym "placental protein 13-like protein", "ppl13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56891 ; - skos:exactMatch HGNC_symbol:LGALS14 ; + skos:exactMatch UMLS:C1537568, + HGNC:30054, + HGNC_symbol:LGALS14 ; biolink:category biolink:Gene . OMIM:607261 a owl:Class ; @@ -234759,13 +243251,14 @@ OMIM:607261 a owl:Class ; PMID:9199932 ; RO:0002525 CHR:9606chr4p16.2 ; RO:0003303 OMIM:193530 ; - oboInOwl:hasDbXref UMLS:C1426383 ; oboInOwl:hasExactSynonym "EVC2", "evc ciliary complex subunit 2", "limbin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132884 ; - skos:exactMatch HGNC_symbol:EVC2 ; + skos:exactMatch UMLS:C1426383, + HGNC:19747, + HGNC_symbol:EVC2 ; biolink:category biolink:Gene . OMIM:607262 a owl:Class ; @@ -234776,37 +243269,40 @@ OMIM:607262 a owl:Class ; PMID:12353027, PMID:18689690, PMID:9723620 ; - oboInOwl:hasDbXref UMLS:C1427640 ; oboInOwl:hasExactSynonym "EPN1", "epsin", "epsin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29924 ; - skos:exactMatch HGNC_symbol:EPN1 ; + skos:exactMatch UMLS:C1427640, + HGNC:21604, + HGNC_symbol:EPN1 ; biolink:category biolink:Gene . OMIM:607263 a owl:Class ; rdfs:label "EPN2" ; IAO:0000142 PMID:10470851, PMID:10567358 ; - oboInOwl:hasDbXref UMLS:C1425669 ; oboInOwl:hasExactSynonym "EPN2", "epsin 2", "kiaa1065" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22905 ; - skos:exactMatch HGNC_symbol:EPN2 ; + skos:exactMatch UMLS:C1425669, + HGNC:18639, + HGNC_symbol:EPN2 ; biolink:category biolink:Gene . OMIM:607264 a owl:Class ; rdfs:label "EPN3" ; IAO:0000142 PMID:11359770 ; - oboInOwl:hasDbXref UMLS:C1425387 ; oboInOwl:hasExactSynonym "EPN3", "epsin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55040 ; - skos:exactMatch HGNC_symbol:EPN3 ; + skos:exactMatch UMLS:C1425387, + HGNC:18235, + HGNC_symbol:EPN3 ; biolink:category biolink:Gene . OMIM:607265 a owl:Class ; @@ -234816,7 +243312,6 @@ OMIM:607265 a owl:Class ; PMID:15793701, PMID:18033301, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1824745 ; oboInOwl:hasExactSynonym "CLINT1", "clathrin interactor 1", "enthoprotin", @@ -234825,7 +243320,9 @@ OMIM:607265 a owl:Class ; "kiaa0171" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9685 ; - skos:exactMatch HGNC_symbol:CLINT1 ; + skos:exactMatch UMLS:C1824745, + HGNC:23186, + HGNC_symbol:CLINT1 ; biolink:category biolink:Gene . OMIM:607266 a owl:Class ; @@ -234838,7 +243335,6 @@ OMIM:607267 a owl:Class ; PMID:10880450, PMID:11000277, PMID:18838386 ; - oboInOwl:hasDbXref UMLS:C1422055 ; oboInOwl:hasExactSynonym "POLE3", "chromatin accessibility complex, 17-kd subunit", "nfyb-like protein 1", @@ -234846,34 +243342,38 @@ OMIM:607267 a owl:Class ; "polymerase, dna, epsilon-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54107 ; - skos:exactMatch HGNC_symbol:POLE3 ; + skos:exactMatch UMLS:C1422055, + HGNC:13546, + HGNC_symbol:POLE3 ; biolink:category biolink:Gene . OMIM:607268 a owl:Class ; rdfs:label "CHRAC1" ; IAO:0000142 PMID:10880450, PMID:11000277 ; - oboInOwl:hasDbXref UMLS:C1422054 ; oboInOwl:hasExactSynonym "CHRAC1", "chromatin accessibility complex, 15-kd subunit", "chromatin accessibility complex, subunit 1", "nfyc-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54108 ; - skos:exactMatch HGNC_symbol:CHRAC1 ; + skos:exactMatch UMLS:C1422054, + HGNC:13544, + HGNC_symbol:CHRAC1 ; biolink:category biolink:Gene . OMIM:607269 a owl:Class ; rdfs:label "POLE4" ; IAO:0000142 PMID:10801849, PMID:18838386 ; - oboInOwl:hasDbXref UMLS:C1425761 ; oboInOwl:hasExactSynonym "POLE4", "polymerase, dna, epsilon, 12-kd subunit", "polymerase, dna, epsilon-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56655 ; - skos:exactMatch HGNC_symbol:POLE4 ; + skos:exactMatch UMLS:C1425761, + HGNC:18755, + HGNC_symbol:POLE4 ; biolink:category biolink:Gene . OMIM:607270 a owl:Class ; @@ -234889,14 +243389,15 @@ OMIM:607270 a owl:Class ; PMID:9455477 ; RO:0002525 CHR:9606chr7q11.22 ; RO:0003303 OMIM:615834 ; - oboInOwl:hasDbXref UMLS:C1422523 ; oboInOwl:hasExactSynonym "AUTS2", "activator of transcription and developmental regulator auts2", "autism susceptibility candidate 2", "kiaa0442" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26053 ; - skos:exactMatch HGNC_symbol:AUTS2 ; + skos:exactMatch UMLS:C1422523, + HGNC:14262, + HGNC_symbol:AUTS2 ; biolink:category biolink:Gene . OMIM:607271 a owl:Class ; @@ -234905,10 +243406,10 @@ OMIM:607271 a owl:Class ; PMID:15459299, PMID:19930184, PMID:21447005 ; - oboInOwl:hasDbXref UMLS:C1846545 ; oboInOwl:hasExactSynonym "autoimmune lymphoproliferative syndrome, iia 2b", "caspase 8 deficiency", "ceds" ; + skos:exactMatch UMLS:C1846545 ; biolink:category biolink:Disease . OMIM:607272 a owl:Class ; @@ -234922,7 +243423,6 @@ OMIM:607272 a owl:Class ; PMID:26068855, PMID:8384581, PMID:9315664 ; - oboInOwl:hasDbXref UMLS:C1424628 ; oboInOwl:hasExactSynonym "NDC80", "hec1", "highly expressed 1n cancer", @@ -234931,7 +243431,9 @@ OMIM:607272 a owl:Class ; "ndc80, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10403 ; - skos:exactMatch HGNC_symbol:NDC80 ; + skos:exactMatch UMLS:C1424628, + HGNC:16909, + HGNC_symbol:NDC80 ; biolink:category biolink:Gene . OMIM:607273 a owl:Class ; @@ -234959,14 +243461,15 @@ OMIM:607273 a owl:Class ; PMID:26516189 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:144700 ; - oboInOwl:hasDbXref UMLS:C1539518 ; oboInOwl:hasExactSynonym "FLCN", "bhd gene", "flcl", "folliculin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201163 ; - skos:exactMatch HGNC_symbol:FLCN ; + skos:exactMatch UMLS:C1539518, + HGNC:27310, + HGNC_symbol:FLCN ; biolink:category biolink:Gene . OMIM:607274 a owl:Class ; @@ -234979,14 +243482,15 @@ OMIM:607274 a owl:Class ; PMID:27074503, PMID:30388222, PMID:8579355 ; - oboInOwl:hasDbXref UMLS:C1421391 ; oboInOwl:hasExactSynonym "USP14", "tgt, 60-kd subunit", "trna-guanine transglycosylase, 60-kd subunit", "ubiquitin-specific protease 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9097 ; - skos:exactMatch HGNC_symbol:USP14 ; + skos:exactMatch UMLS:C1421391, + HGNC:12612, + HGNC_symbol:USP14 ; biolink:category biolink:Gene . OMIM:607275 a owl:Class ; @@ -234995,13 +243499,14 @@ OMIM:607275 a owl:Class ; PMID:12297046, PMID:12975471, PMID:17192267 ; - oboInOwl:hasDbXref UMLS:C1846535 ; oboInOwl:hasExactSynonym "HOPX", "homeodomain-only protein", "hop homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84525 ; - skos:exactMatch HGNC_symbol:HOPX ; + skos:exactMatch UMLS:C1846535, + HGNC:24961, + HGNC_symbol:HOPX ; biolink:category biolink:Gene . OMIM:607276 a owl:Class ; @@ -235013,9 +243518,9 @@ OMIM:607276 a owl:Class ; PMID:20031603, PMID:20062063, PMID:3591616 ; - oboInOwl:hasDbXref UMLS:C1821417 ; oboInOwl:hasExactSynonym "resting heart rate, variation 1n", "rhr" ; + skos:exactMatch UMLS:C1821417 ; biolink:category biolink:Disease . OMIM:607280 a owl:Class ; @@ -235027,13 +243532,14 @@ OMIM:607280 a owl:Class ; PMID:18349135, PMID:8586965, PMID:9733924 ; - oboInOwl:hasDbXref UMLS:C1413562 ; oboInOwl:hasExactSynonym "CNTN4", "big2, rat, homolog of", "contactin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152330 ; - skos:exactMatch HGNC_symbol:CNTN4 ; + skos:exactMatch UMLS:C1413562, + HGNC:2174, + HGNC_symbol:CNTN4 ; biolink:category biolink:Gene . OMIM:607281 a owl:Class ; @@ -235046,15 +243552,16 @@ OMIM:607281 a owl:Class ; PMID:17936923, PMID:31010896, PMID:9230209 ; - oboInOwl:hasDbXref UMLS:C1426957, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "LSM1", "cancer-associated sm-like protein", "lsm1 homolog, mrna degradation-associated", "lsm1 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27257 ; - skos:exactMatch HGNC_symbol:LSM1 ; + skos:exactMatch UMLS:C1426957, + UMLS:C2986382, + HGNC:20472, + HGNC_symbol:LSM1 ; biolink:category biolink:Gene . OMIM:607282 a owl:Class ; @@ -235062,13 +243569,14 @@ OMIM:607282 a owl:Class ; IAO:0000142 PMID:10369684, PMID:10523320, PMID:12515382 ; - oboInOwl:hasDbXref UMLS:C1422288 ; oboInOwl:hasExactSynonym "LSM2", "chromosome 6 open reading frame 28", "lsm2 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57819 ; - skos:exactMatch HGNC_symbol:LSM2 ; + skos:exactMatch UMLS:C1422288, + HGNC:13940, + HGNC_symbol:LSM2 ; biolink:category biolink:Gene . OMIM:607283 a owl:Class ; @@ -235076,12 +243584,13 @@ OMIM:607283 a owl:Class ; IAO:0000142 PMID:10369684, PMID:10523320, PMID:12515382 ; - oboInOwl:hasDbXref UMLS:C1425147 ; oboInOwl:hasExactSynonym "LSM3", "lsm3 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27258 ; - skos:exactMatch HGNC_symbol:LSM3 ; + skos:exactMatch UMLS:C1425147, + HGNC:17874, + HGNC_symbol:LSM3 ; biolink:category biolink:Gene . OMIM:607284 a owl:Class ; @@ -235089,12 +243598,13 @@ OMIM:607284 a owl:Class ; IAO:0000142 PMID:10369684, PMID:10523320, PMID:12515382 ; - oboInOwl:hasDbXref UMLS:C1424855 ; oboInOwl:hasExactSynonym "LSM4", "lsm4 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25804 ; - skos:exactMatch HGNC_symbol:LSM4 ; + skos:exactMatch UMLS:C1424855, + HGNC:17259, + HGNC_symbol:LSM4 ; biolink:category biolink:Gene . OMIM:607285 a owl:Class ; @@ -235102,12 +243612,13 @@ OMIM:607285 a owl:Class ; IAO:0000142 PMID:10369684, PMID:10523320, PMID:12515382 ; - oboInOwl:hasDbXref UMLS:C1424786 ; oboInOwl:hasExactSynonym "LSM5", "lsm5 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23658 ; - skos:exactMatch HGNC_symbol:LSM5 ; + skos:exactMatch UMLS:C1424786, + HGNC:17162, + HGNC_symbol:LSM5 ; biolink:category biolink:Gene . OMIM:607286 a owl:Class ; @@ -235116,12 +243627,13 @@ OMIM:607286 a owl:Class ; PMID:10523320, PMID:12515382, PMID:15616564 ; - oboInOwl:hasDbXref UMLS:C1424688 ; oboInOwl:hasExactSynonym "LSM6", "lsm6 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11157 ; - skos:exactMatch HGNC_symbol:LSM6 ; + skos:exactMatch UMLS:C1424688, + HGNC:17017, + HGNC_symbol:LSM6 ; biolink:category biolink:Gene . OMIM:607287 a owl:Class ; @@ -235129,24 +243641,26 @@ OMIM:607287 a owl:Class ; IAO:0000142 PMID:10369684, PMID:10523320, PMID:12515382 ; - oboInOwl:hasDbXref UMLS:C1426955 ; oboInOwl:hasExactSynonym "LSM7", "lsm7 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51690 ; - skos:exactMatch HGNC_symbol:LSM7 ; + skos:exactMatch UMLS:C1426955, + HGNC:20470, + HGNC_symbol:LSM7 ; biolink:category biolink:Gene . OMIM:607288 a owl:Class ; rdfs:label "LSM8" ; IAO:0000142 PMID:10369684, PMID:10523320 ; - oboInOwl:hasDbXref UMLS:C1426956 ; oboInOwl:hasExactSynonym "LSM8", "lsm8 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51691 ; - skos:exactMatch HGNC_symbol:LSM8 ; + skos:exactMatch UMLS:C1426956, + HGNC:20471, + HGNC_symbol:LSM8 ; biolink:category biolink:Gene . OMIM:607289 a owl:Class ; @@ -235156,14 +243670,15 @@ OMIM:607289 a owl:Class ; PMID:32565547 ; RO:0002525 CHR:9606chr6p24.3 ; RO:0003303 OMIM:619172 ; - oboInOwl:hasDbXref UMLS:C1425601 ; oboInOwl:hasExactSynonym "BLOC1S5", "biogenesis of lysosome-related organelles complex 1, subunit 5", "bloc1, subunit 5", "muted, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63915 ; - skos:exactMatch HGNC_symbol:BLOC1S5 ; + skos:exactMatch UMLS:C1425601, + HGNC:18561, + HGNC_symbol:BLOC1S5 ; biolink:category biolink:Gene . OMIM:607290 a owl:Class ; @@ -235173,19 +243688,19 @@ OMIM:607290 a owl:Class ; PMID:17481602, PMID:22120523, PMID:26868272 ; - oboInOwl:hasDbXref UMLS:C1846532 ; oboInOwl:hasExactSynonym "SHISA5", "scotin", "shisa family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51246 ; - skos:exactMatch HGNC_symbol:SHISA5 ; + skos:exactMatch UMLS:C1846532, + HGNC:30376, + HGNC_symbol:SHISA5 ; biolink:category biolink:Gene . OMIM:607291 a owl:Class ; rdfs:label "SYNRG" ; IAO:0000142 PMID:10477754 ; - oboInOwl:hasDbXref UMLS:C1412437 ; oboInOwl:hasExactSynonym "SYNRG", "adaptor-related protein complex 1 gamma subunit-binding protein 1", "ap1 gamma subunit-binding protein 1", @@ -235193,7 +243708,9 @@ OMIM:607291 a owl:Class ; "syng" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11276 ; - skos:exactMatch HGNC_symbol:SYNRG ; + skos:exactMatch UMLS:C1412437, + HGNC:557, + HGNC_symbol:SYNRG ; biolink:category biolink:Gene . OMIM:607292 a owl:Class ; @@ -235205,13 +243722,14 @@ OMIM:607292 a owl:Class ; PMID:7748561 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:610282 ; - oboInOwl:hasDbXref UMLS:C1419947 ; oboInOwl:hasExactSynonym "SEMA4A", "semaphorin 4a", "semaphorin B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64218 ; - skos:exactMatch HGNC_symbol:SEMA4A ; + skos:exactMatch UMLS:C1419947, + HGNC:10729, + HGNC_symbol:SEMA4A ; biolink:category biolink:Gene . OMIM:607293 a owl:Class ; @@ -235222,25 +243740,27 @@ OMIM:607293 a owl:Class ; PMID:24781754 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:616042 ; - oboInOwl:hasDbXref UMLS:C1422031 ; oboInOwl:hasExactSynonym "CLIC5", "chloride intracellular channel 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53405 ; - skos:exactMatch HGNC_symbol:CLIC5 ; + skos:exactMatch UMLS:C1422031, + HGNC:13517, + HGNC_symbol:CLIC5 ; biolink:category biolink:Gene . OMIM:607294 a owl:Class ; rdfs:label "TGIF2" ; IAO:0000142 PMID:11006116, PMID:25043055 ; - oboInOwl:hasDbXref UMLS:C1423713 ; oboInOwl:hasExactSynonym "TGIF2", "tgfb-induced factor 2", "transforming growth factor-beta-induced factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60436 ; - skos:exactMatch HGNC_symbol:TGIF2 ; + skos:exactMatch UMLS:C1423713, + HGNC:15764, + HGNC_symbol:TGIF2 ; biolink:category biolink:Gene . OMIM:607295 a owl:Class ; @@ -235251,37 +243771,40 @@ OMIM:607295 a owl:Class ; PMID:27858739 ; RO:0002525 CHR:9606chr22q12.1 ; RO:0003303 OMIM:616549 ; - oboInOwl:hasDbXref UMLS:C1425346 ; oboInOwl:hasExactSynonym "MYO18B", "myosin 18b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84700 ; - skos:exactMatch HGNC_symbol:MYO18B ; + skos:exactMatch UMLS:C1425346, + HGNC:18150, + HGNC_symbol:MYO18B ; biolink:category biolink:Gene . OMIM:607296 a owl:Class ; rdfs:label "ATP6V1G1" ; IAO:0000142 PMID:11042152, PMID:9442887 ; - oboInOwl:hasDbXref UMLS:C1412684 ; oboInOwl:hasExactSynonym "ATP6V1G1", "atp6g1", "atpase, h+ transporting, lysosomal, 13-kd, v1 subunit g, isoform 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9550 ; - skos:exactMatch HGNC_symbol:ATP6V1G1 ; + skos:exactMatch UMLS:C1412684, + HGNC:864, + HGNC_symbol:ATP6V1G1 ; biolink:category biolink:Gene . OMIM:607297 a owl:Class ; rdfs:label "NINJ2" ; IAO:0000142 PMID:10627596 ; - oboInOwl:hasDbXref UMLS:C1417729 ; oboInOwl:hasExactSynonym "NINJ2", "nerve injury-induced protein 2", "ninjurin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4815 ; - skos:exactMatch HGNC_symbol:NINJ2 ; + skos:exactMatch UMLS:C1417729, + HGNC:7825, + HGNC_symbol:NINJ2 ; biolink:category biolink:Gene . OMIM:607298 a owl:Class ; @@ -235289,12 +243812,13 @@ OMIM:607298 a owl:Class ; IAO:0000142 PMID:10570481, PMID:12454992, PMID:16473877 ; - oboInOwl:hasDbXref UMLS:C1422425 ; oboInOwl:hasExactSynonym "GNG13", "guanine nucleotide-binding protein, gamma-13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51764 ; - skos:exactMatch HGNC_symbol:GNG13 ; + skos:exactMatch UMLS:C1422425, + HGNC:14131, + HGNC_symbol:GNG13 ; biolink:category biolink:Gene . OMIM:607299 a owl:Class ; @@ -235305,13 +243829,14 @@ OMIM:607299 a owl:Class ; PMID:22447725, PMID:9119979, PMID:962649 ; - oboInOwl:hasDbXref UMLS:C1824952 ; oboInOwl:hasExactSynonym "DNER", "delta- and notch-like egf-related receptor", "delta- and notch-like epidermal growth factor-related receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92737 ; - skos:exactMatch HGNC_symbol:DNER ; + skos:exactMatch UMLS:C1824952, + HGNC:24456, + HGNC_symbol:DNER ; biolink:category biolink:Gene . OMIM:607300 a owl:Class ; @@ -235326,7 +243851,6 @@ OMIM:607300 a owl:Class ; PMID:9774689 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:600059 ; - oboInOwl:hasDbXref UMLS:C1424915 ; oboInOwl:hasExactSynonym "PRPF8", "pre-mrna-processing factor 8", "precursor mrna-processing factor 8, s. cerevisiae, homolog of", @@ -235334,7 +243858,9 @@ OMIM:607300 a owl:Class ; "u5 snrnp-specific protein, 220-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10594 ; - skos:exactMatch HGNC_symbol:PRPF8 ; + skos:exactMatch UMLS:C1424915, + HGNC:17340, + HGNC_symbol:PRPF8 ; biolink:category biolink:Gene . OMIM:607301 a owl:Class ; @@ -235351,7 +243877,6 @@ OMIM:607301 a owl:Class ; PMID:9521884 ; RO:0002525 CHR:9606chr1q21.2 ; RO:0003303 OMIM:601414 ; - oboInOwl:hasDbXref UMLS:C1424921 ; oboInOwl:hasExactSynonym "PRPF3", "hprp3", "pre-mrna processing factor 3", @@ -235359,7 +243884,9 @@ OMIM:607301 a owl:Class ; "prp3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9129 ; - skos:exactMatch HGNC_symbol:PRPF3 ; + skos:exactMatch UMLS:C1424921, + HGNC:17348, + HGNC_symbol:PRPF3 ; biolink:category biolink:Gene . OMIM:607302 a owl:Class ; @@ -235373,27 +243900,29 @@ OMIM:607303 a owl:Class ; PMID:15367658, PMID:20133523, PMID:9891081 ; - oboInOwl:hasDbXref UMLS:C1424676 ; oboInOwl:hasExactSynonym "MORF4L1", "morf-related gene 15", "morf4-like protein 1", "mortality factor 4-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10933 ; - skos:exactMatch HGNC_symbol:MORF4L1 ; + skos:exactMatch UMLS:C1424676, + HGNC:16989, + HGNC_symbol:MORF4L1 ; biolink:category biolink:Gene . OMIM:607305 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12203785 ; - oboInOwl:hasDbXref UMLS:C1825956, - UMLS:C1846519 ; oboInOwl:hasExactSynonym "mds2", "mds2 gene", "mds2/etv6 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259283 ; - skos:exactMatch HGNC_symbol:MDS2 ; + skos:exactMatch UMLS:C1825956, + UMLS:C1846519, + HGNC:29633, + HGNC_symbol:MDS2 ; biolink:category biolink:Gene . OMIM:607306 a owl:Class ; @@ -235425,12 +243954,13 @@ OMIM:607306 a owl:Class ; PMID:9843052 ; RO:0002525 CHR:9606chr2p23.1 ; RO:0003303 OMIM:264600 ; - oboInOwl:hasDbXref UMLS:C0919429 ; oboInOwl:hasExactSynonym "SRD5A2", "steroid 5-alpha-reductase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6716 ; - skos:exactMatch HGNC_symbol:SRD5A2 ; + skos:exactMatch UMLS:C0919429, + HGNC:11285, + HGNC_symbol:SRD5A2 ; biolink:category biolink:Gene . OMIM:607307 a owl:Class ; @@ -235438,14 +243968,15 @@ OMIM:607307 a owl:Class ; IAO:0000142 PMID:10574462, PMID:12055638, PMID:18794120 ; - oboInOwl:hasDbXref UMLS:C1427243 ; oboInOwl:hasExactSynonym "FILIP1", "filamin a-interacting protein 1", "filip", "kiaa1275" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27145 ; - skos:exactMatch HGNC_symbol:FILIP1 ; + skos:exactMatch UMLS:C1427243, + HGNC:21015, + HGNC_symbol:FILIP1 ; biolink:category biolink:Gene . OMIM:607308 a owl:Class ; @@ -235453,8 +243984,8 @@ OMIM:607308 a owl:Class ; IAO:0000142 PMID:12239257, PMID:21278746, PMID:26073781 ; - oboInOwl:hasDbXref UMLS:C1268717 ; oboInOwl:hasExactSynonym "mammographic density" ; + skos:exactMatch UMLS:C1268717 ; biolink:category biolink:Disease . OMIM:607309 a owl:Class ; @@ -235462,24 +243993,26 @@ OMIM:607309 a owl:Class ; IAO:0000142 PMID:10338135, PMID:10535737, PMID:10640811 ; - oboInOwl:hasDbXref UMLS:C1412438 ; oboInOwl:hasExactSynonym "AP1M2", "adaptor-related protein complex 1, mu-2 subunit", "mu-1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10053 ; - skos:exactMatch HGNC_symbol:AP1M2 ; + skos:exactMatch UMLS:C1412438, + HGNC:558, + HGNC_symbol:AP1M2 ; biolink:category biolink:Gene . OMIM:607310 a owl:Class ; rdfs:label "ADAM7" ; IAO:0000142 PMID:12037602 ; - oboInOwl:hasDbXref UMLS:C1412205 ; oboInOwl:hasExactSynonym "ADAM7", "a disintegrin and metalloproteinase domain 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8756 ; - skos:exactMatch HGNC_symbol:ADAM7 ; + skos:exactMatch UMLS:C1412205, + HGNC:214, + HGNC_symbol:ADAM7 ; biolink:category biolink:Gene . OMIM:607311 a owl:Class ; @@ -235511,14 +244044,15 @@ OMIM:607311 a owl:Class ; PMID:9467558 ; RO:0002525 CHR:9606chr11q22.1 ; RO:0003303 OMIM:264080 ; - oboInOwl:hasDbXref UMLS:C1366500 ; oboInOwl:hasExactSynonym "PGR", "nuclear receptor subfamily 3, group c, member 3", "pr", "progesterone receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5241 ; - skos:exactMatch HGNC_symbol:PGR ; + skos:exactMatch UMLS:C1366500, + HGNC:8910, + HGNC_symbol:PGR ; biolink:category biolink:Gene . OMIM:607312 a owl:Class ; @@ -235527,13 +244061,14 @@ OMIM:607312 a owl:Class ; PMID:12215647, PMID:12851707, PMID:21204022 ; - oboInOwl:hasDbXref UMLS:C1428222 ; oboInOwl:hasExactSynonym "ZC3HAV1", "zinc finger antiviral protein", "zinc finger ccch domain-containing antiviral protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56829 ; - skos:exactMatch HGNC_symbol:ZC3HAV1 ; + skos:exactMatch UMLS:C1428222, + HGNC:23721, + HGNC_symbol:ZC3HAV1 ; biolink:category biolink:Gene . OMIM:607314 a owl:Class ; @@ -235543,12 +244078,13 @@ OMIM:607314 a owl:Class ; PMID:22981119 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:614899 ; - oboInOwl:hasDbXref UMLS:C1413054 ; oboInOwl:hasExactSynonym "CABP2", "calcium-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51475 ; - skos:exactMatch HGNC_symbol:CABP2 ; + skos:exactMatch UMLS:C1413054, + HGNC:1385, + HGNC_symbol:CABP2 ; biolink:category biolink:Gene . OMIM:607316 a owl:Class ; @@ -235560,27 +244096,29 @@ OMIM:607318 a owl:Class ; IAO:0000142 PMID:11292829, PMID:11691588, PMID:11691589 ; - oboInOwl:hasDbXref UMLS:C1424794 ; oboInOwl:hasExactSynonym "LOXL4", "loxc", "lysyl oxidase-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84171 ; - skos:exactMatch HGNC_symbol:LOXL4 ; + skos:exactMatch UMLS:C1424794, + HGNC:17171, + HGNC_symbol:LOXL4 ; biolink:category biolink:Gene . OMIM:607319 a owl:Class ; rdfs:label "SFMBT1" ; IAO:0000142 PMID:10661410, PMID:17599839 ; - oboInOwl:hasDbXref UMLS:C1426812 ; oboInOwl:hasExactSynonym "SFMBT1", "renal ubiquitous protein 1", "scm-like protein with 4 mbt domains 1", "sfmbt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51460 ; - skos:exactMatch HGNC_symbol:SFMBT1 ; + skos:exactMatch UMLS:C1426812, + HGNC:20255, + HGNC_symbol:SFMBT1 ; biolink:category biolink:Gene . OMIM:607320 a owl:Class ; @@ -235588,12 +244126,13 @@ OMIM:607320 a owl:Class ; IAO:0000142 PMID:11880369, PMID:11956218, PMID:12493770 ; - oboInOwl:hasDbXref UMLS:C1425925 ; oboInOwl:hasExactSynonym "RASGRP4", "ras guanyl nucleotide-releasing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115727 ; - skos:exactMatch HGNC_symbol:RASGRP4 ; + skos:exactMatch UMLS:C1425925, + HGNC:18958, + HGNC_symbol:RASGRP4 ; biolink:category biolink:Gene . OMIM:607321 a owl:Class ; @@ -235605,7 +244144,6 @@ OMIM:607321 a owl:Class ; PMID:21187400, PMID:3035563, PMID:7809153 ; - oboInOwl:hasDbXref UMLS:C1422389 ; oboInOwl:hasExactSynonym "ATP1A4", "atpase, na+/k+ transporting, alpha polypeptide-like 2", "atpase, na+/k+ transporting, alpha-4 polypeptide", @@ -235613,7 +244151,9 @@ OMIM:607321 a owl:Class ; "sodium-potassium-atpase, alpha-4 polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:480 ; - skos:exactMatch HGNC_symbol:ATP1A4 ; + skos:exactMatch UMLS:C1422389, + HGNC:14073, + HGNC_symbol:ATP1A4 ; biolink:category biolink:Gene . OMIM:607322 a owl:Class ; @@ -235626,14 +244166,15 @@ OMIM:607325 a owl:Class ; PMID:12172552, PMID:19745154, PMID:22045297 ; - oboInOwl:hasDbXref UMLS:C1422426 ; oboInOwl:hasExactSynonym "DOCK9", "dedicator of cytokinesis 9", "kiaa1058", "zizimin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23348 ; - skos:exactMatch HGNC_symbol:DOCK9 ; + skos:exactMatch UMLS:C1422426, + HGNC:14132, + HGNC_symbol:DOCK9 ; biolink:category biolink:Gene . OMIM:607327 a owl:Class ; @@ -235643,14 +244184,15 @@ OMIM:607327 a owl:Class ; PMID:11929853, PMID:15257297, PMID:23739326 ; - oboInOwl:hasDbXref UMLS:C1424516 ; oboInOwl:hasExactSynonym "MBNL2", "muscleblind-like protein 2", "muscleblind-like protein-like", "muscleblind-like splicing regulator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10150 ; - skos:exactMatch HGNC_symbol:MBNL2 ; + skos:exactMatch UMLS:C1424516, + HGNC:16746, + HGNC_symbol:MBNL2 ; biolink:category biolink:Gene . OMIM:607328 a owl:Class ; @@ -235661,7 +244203,6 @@ OMIM:607328 a owl:Class ; PMID:15713662, PMID:15965233, PMID:17088550 ; - oboInOwl:hasDbXref UMLS:C1825463 ; oboInOwl:hasExactSynonym "HEXIM1", "cardiac lineage protein 1", "hexamethylene bis acetamide-inducible protein 1", @@ -235669,7 +244210,9 @@ OMIM:607328 a owl:Class ; "menage a quatre 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10614 ; - skos:exactMatch HGNC_symbol:HEXIM1 ; + skos:exactMatch UMLS:C1825463, + HGNC:24953, + HGNC_symbol:HEXIM1 ; biolink:category biolink:Gene . OMIM:607331 a owl:Class ; @@ -235686,14 +244229,15 @@ OMIM:607331 a owl:Class ; PMID:8513323 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:180104 ; - oboInOwl:hasDbXref UMLS:C1419617 ; oboInOwl:hasExactSynonym "RP9", "pim1-associated protein, mouse, homolog of", "rp9 gene", "rp9 pre-mrna splicing factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6100 ; - skos:exactMatch HGNC_symbol:RP9 ; + skos:exactMatch UMLS:C1419617, + HGNC:10288, + HGNC_symbol:RP9 ; biolink:category biolink:Gene . OMIM:607332 a owl:Class ; @@ -235701,7 +244245,6 @@ OMIM:607332 a owl:Class ; IAO:0000142 PMID:10981724, PMID:12417574, PMID:8261136 ; - oboInOwl:hasDbXref UMLS:C1424582 ; oboInOwl:hasExactSynonym "3.1 gene", "NREP", "chromosome 5 open reading frame 13", @@ -235711,28 +244254,30 @@ OMIM:607332 a owl:Class ; "ptz17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9315 ; - skos:exactMatch HGNC_symbol:NREP ; + skos:exactMatch UMLS:C1424582, + HGNC:16834, + HGNC_symbol:NREP ; biolink:category biolink:Gene . OMIM:607333 a owl:Class ; rdfs:label "STRADB" ; IAO:0000142 PMID:11161814, PMID:12048196 ; - oboInOwl:hasDbXref UMLS:C1421877 ; oboInOwl:hasExactSynonym "STRADB", "als2 chromosome region gene 2", "ilp-interacting protein", "ste20-related kinase adaptor beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55437 ; - skos:exactMatch HGNC_symbol:STRADB ; + skos:exactMatch UMLS:C1421877, + HGNC:13205, + HGNC_symbol:STRADB ; biolink:category biolink:Gene . OMIM:607334 a owl:Class ; rdfs:label "TRAK2" ; IAO:0000142 PMID:11161814, PMID:12034717 ; - oboInOwl:hasDbXref UMLS:C1823480 ; oboInOwl:hasExactSynonym "TRAK2", "als2 chromosome region gene 3", "gaba-a receptor-interacting factor 1", @@ -235742,7 +244287,9 @@ OMIM:607334 a owl:Class ; "trafficking protein, kinesin-binding 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:66008 ; - skos:exactMatch HGNC_symbol:TRAK2 ; + skos:exactMatch UMLS:C1823480, + HGNC:13206, + HGNC_symbol:TRAK2 ; biolink:category biolink:Gene . OMIM:607335 a owl:Class ; @@ -235751,13 +244298,14 @@ OMIM:607335 a owl:Class ; PMID:12032738, PMID:12907679, PMID:16912113 ; - oboInOwl:hasDbXref UMLS:C1826422 ; oboInOwl:hasExactSynonym "BEST2", "bestrophin 2", "vmd2-like gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54831 ; - skos:exactMatch HGNC_symbol:BEST2 ; + skos:exactMatch UMLS:C1826422, + HGNC:17107, + HGNC_symbol:BEST2 ; biolink:category biolink:Gene . OMIM:607336 a owl:Class ; @@ -235766,13 +244314,14 @@ OMIM:607336 a owl:Class ; PMID:12032738, PMID:12907679, PMID:16702355 ; - oboInOwl:hasDbXref UMLS:C1826424 ; oboInOwl:hasExactSynonym "BEST4", "bestrophin 4", "vmd2-like gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266675 ; - skos:exactMatch HGNC_symbol:BEST4 ; + skos:exactMatch UMLS:C1826424, + HGNC:17106, + HGNC_symbol:BEST4 ; biolink:category biolink:Gene . OMIM:607337 a owl:Class ; @@ -235781,25 +244330,27 @@ OMIM:607337 a owl:Class ; PMID:12032738, PMID:12907679, PMID:18776041 ; - oboInOwl:hasDbXref UMLS:C1826423 ; oboInOwl:hasExactSynonym "BEST3", "bestrophin 3", "vmd2-like gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144453 ; - skos:exactMatch HGNC_symbol:BEST3 ; + skos:exactMatch UMLS:C1826423, + HGNC:17105, + HGNC_symbol:BEST3 ; biolink:category biolink:Gene . OMIM:607338 a owl:Class ; rdfs:label "LEPROTL1" ; IAO:0000142 PMID:11342119, PMID:19907080 ; - oboInOwl:hasDbXref UMLS:C1416826 ; oboInOwl:hasExactSynonym "LEPROTL1", "leptin receptor overlapping transcript-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23484 ; - skos:exactMatch HGNC_symbol:LEPROTL1 ; + skos:exactMatch UMLS:C1416826, + HGNC:6555, + HGNC_symbol:LEPROTL1 ; biolink:category biolink:Gene . OMIM:607340 a owl:Class ; @@ -235829,18 +244380,19 @@ OMIM:607340 a owl:Class ; PMID:9872744 ; RO:0002525 CHR:9606chr9q22.33 ; RO:0003303 OMIM:188890 ; - oboInOwl:hasDbXref UMLS:C1846414, - UMLS:C1861063, - UMLS:C4016025, - UMLS:C4693546, - UMLS:C4693550 ; oboInOwl:hasExactSynonym "GABBR2", "g protein-coupled receptor 51", "gaba-b receptor, r2 subunit", "gamma-aminobutyric acid B receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9568 ; - skos:exactMatch HGNC_symbol:GABBR2 ; + skos:exactMatch UMLS:C1846414, + UMLS:C1861063, + UMLS:C4016025, + UMLS:C4693546, + UMLS:C4693550, + HGNC:4507, + HGNC_symbol:GABBR2 ; biolink:category biolink:Gene . OMIM:607341 a owl:Class ; @@ -235855,13 +244407,6 @@ OMIM:607341 a owl:Class ; PMID:5096551, PMID:5282881, PMID:7876892 ; - oboInOwl:hasDbXref UMLS:C1846385, - UMLS:C1846388, - UMLS:C1846389, - UMLS:C4478700, - UMLS:C4478701, - UMLS:C4479708, - UMLS:C4479709 ; oboInOwl:hasExactSynonym "FCORD2", "cortical dysplasia of taylor", "cortical dysplasia of taylor with balloon cells", @@ -235874,6 +244419,13 @@ OMIM:607341 a owl:Class ; "focal cortical dysplasia, iia 2", "focal cortical dysplasia, iia 2a", "focal cortical dysplasia, iia 2b" ; + skos:exactMatch UMLS:C1846385, + UMLS:C1846388, + UMLS:C1846389, + UMLS:C4478700, + UMLS:C4478701, + UMLS:C4479708, + UMLS:C4479709 ; biolink:category biolink:Disease . OMIM:607342 a owl:Class ; @@ -235887,13 +244439,14 @@ OMIM:607342 a owl:Class ; PMID:19141477, PMID:21478871, PMID:23434754 ; - oboInOwl:hasDbXref UMLS:C1427734 ; oboInOwl:hasExactSynonym "CPEB1", "cpeb", "cytoplasmic polyadenylation element-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64506 ; - skos:exactMatch HGNC_symbol:CPEB1 ; + skos:exactMatch UMLS:C1427734, + HGNC:21744, + HGNC_symbol:CPEB1 ; biolink:category biolink:Gene . OMIM:607343 a owl:Class ; @@ -235923,39 +244476,42 @@ OMIM:607343 a owl:Class ; PMID:843249 ; RO:0002525 CHR:9606chr20q13.2 ; RO:0003303 OMIM:607323 ; - oboInOwl:hasDbXref UMLS:C1327918, - UMLS:C1423836, - UMLS:C1623209 ; oboInOwl:hasExactSynonym "SALL4", "hsal4", "sal-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57167 ; - skos:exactMatch HGNC_symbol:SALL4 ; + skos:exactMatch UMLS:C1327918, + UMLS:C1423836, + UMLS:C1623209, + HGNC:15924, + HGNC_symbol:SALL4 ; biolink:category biolink:Gene . OMIM:607344 a owl:Class ; rdfs:label "TUBD1" ; IAO:0000142 PMID:10620804 ; - oboInOwl:hasDbXref UMLS:C1540130 ; oboInOwl:hasExactSynonym "TUBD1", "tubd", "tubulin, delta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51174 ; - skos:exactMatch HGNC_symbol:TUBD1 ; + skos:exactMatch UMLS:C1540130, + HGNC:16811, + HGNC_symbol:TUBD1 ; biolink:category biolink:Gene . OMIM:607345 a owl:Class ; rdfs:label "TUBE1" ; IAO:0000142 PMID:10620804 ; - oboInOwl:hasDbXref UMLS:C1427122 ; oboInOwl:hasExactSynonym "TUBE1", "tubulin, epsilon", "tubulin, epsilon-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51175 ; - skos:exactMatch HGNC_symbol:TUBE1 ; + skos:exactMatch UMLS:C1427122, + HGNC:20775, + HGNC_symbol:TUBE1 ; biolink:category biolink:Gene . OMIM:607347 a owl:Class ; @@ -235968,28 +244524,30 @@ OMIM:607347 a owl:Class ; PMID:31939038 ; RO:0002525 CHR:9606chr4q25 ; RO:0003303 OMIM:614979 ; - oboInOwl:hasDbXref UMLS:C1538265, - UMLS:C3554278 ; oboInOwl:hasExactSynonym "ALPK1", "alpha kinase 1", "kiaa1527", "lymphocyte alpha kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80216 ; - skos:exactMatch HGNC_symbol:ALPK1 ; + skos:exactMatch UMLS:C1538265, + UMLS:C3554278, + HGNC:20917, + HGNC_symbol:ALPK1 ; biolink:category biolink:Gene . OMIM:607348 a owl:Class ; rdfs:label "HES5" ; IAO:0000142 PMID:15254753, PMID:7836401 ; - oboInOwl:hasDbXref UMLS:C1426393 ; oboInOwl:hasExactSynonym "HES5", "hairy/enhancer of split, drosophila, homolog of, 5", "hes family bhlh transcription factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388585 ; - skos:exactMatch HGNC_symbol:HES5 ; + skos:exactMatch UMLS:C1426393, + HGNC:19764, + HGNC_symbol:HES5 ; biolink:category biolink:Gene . OMIM:607349 a owl:Class ; @@ -235999,13 +244557,14 @@ OMIM:607349 a owl:Class ; PMID:12422220, PMID:24009311, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1423493 ; oboInOwl:hasExactSynonym "TLN2", "kiaa0320", "talin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83660 ; - skos:exactMatch HGNC_symbol:TLN2 ; + skos:exactMatch UMLS:C1423493, + HGNC:15447, + HGNC_symbol:TLN2 ; biolink:category biolink:Gene . OMIM:607350 a owl:Class ; @@ -236013,27 +244572,29 @@ OMIM:607350 a owl:Class ; IAO:0000142 PMID:10859302, PMID:15479732, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1422625 ; oboInOwl:hasExactSynonym "KIF13B", "guanylate kinase-associated kinesin", "kiaa0639", "kinesin family member 13b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23303 ; - skos:exactMatch HGNC_symbol:KIF13B ; + skos:exactMatch UMLS:C1422625, + HGNC:14405, + HGNC_symbol:KIF13B ; biolink:category biolink:Gene . OMIM:607351 a owl:Class ; rdfs:label "RHOBTB1" ; IAO:0000142 PMID:12426103, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1425748 ; oboInOwl:hasExactSynonym "RHOBTB1", "kiaa0740", "rho-related btb domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9886 ; - skos:exactMatch HGNC_symbol:RHOBTB1 ; + skos:exactMatch UMLS:C1425748, + HGNC:18738, + HGNC_symbol:RHOBTB1 ; biolink:category biolink:Gene . OMIM:607352 a owl:Class ; @@ -236045,15 +244606,16 @@ OMIM:607352 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:618004 ; - oboInOwl:hasDbXref UMLS:C1425762, - UMLS:C4693899 ; oboInOwl:hasExactSynonym "RHOBTB2", "deleted 1n breast cancer 2", "kiaa0717", "rho-related btb domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23221 ; - skos:exactMatch HGNC_symbol:RHOBTB2 ; + skos:exactMatch UMLS:C1425762, + UMLS:C4693899, + HGNC:18756, + HGNC_symbol:RHOBTB2 ; biolink:category biolink:Gene . OMIM:607353 a owl:Class ; @@ -236061,20 +244623,20 @@ OMIM:607353 a owl:Class ; IAO:0000142 PMID:10048485, PMID:12426103, PMID:19490898 ; - oboInOwl:hasDbXref UMLS:C1425763 ; oboInOwl:hasExactSynonym "RHOBTB3", "kiaa0878", "rho-related btb domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22836 ; - skos:exactMatch HGNC_symbol:RHOBTB3 ; + skos:exactMatch UMLS:C1425763, + HGNC:18757, + HGNC_symbol:RHOBTB3 ; biolink:category biolink:Gene . OMIM:607355 a owl:Class ; rdfs:label "AGO3" ; IAO:0000142 PMID:12414724, PMID:18524951 ; - oboInOwl:hasDbXref UMLS:C1425508 ; oboInOwl:hasExactSynonym "AGO3", "argonaute 3", "argonaute risc catalytic component 3", @@ -236082,14 +244644,15 @@ OMIM:607355 a owl:Class ; "eukaryotic translation initiation factor 2c, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:192669 ; - skos:exactMatch HGNC_symbol:AGO3 ; + skos:exactMatch UMLS:C1425508, + HGNC:18421, + HGNC_symbol:AGO3 ; biolink:category biolink:Gene . OMIM:607356 a owl:Class ; rdfs:label "AGO4" ; IAO:0000142 PMID:10997877, PMID:12414724 ; - oboInOwl:hasDbXref UMLS:C1425509 ; oboInOwl:hasExactSynonym "AGO4", "argonaute 4", "argonaute risc component 4", @@ -236097,7 +244660,9 @@ OMIM:607356 a owl:Class ; "kiaa1567" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:192670 ; - skos:exactMatch HGNC_symbol:AGO4 ; + skos:exactMatch UMLS:C1425509, + HGNC:18424, + HGNC_symbol:AGO4 ; biolink:category biolink:Gene . OMIM:607357 a owl:Class ; @@ -236108,13 +244673,14 @@ OMIM:607357 a owl:Class ; PMID:28669405 ; RO:0002525 CHR:9606chr6q13 ; RO:0003303 OMIM:617601 ; - oboInOwl:hasDbXref UMLS:C1416617 ; oboInOwl:hasExactSynonym "KCNQ5", "potassium channel, voltage-gated, kqt-like subfamily, member 5", "potassium channel, voltage-gated, subfamily q, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56479 ; - skos:exactMatch HGNC_symbol:KCNQ5 ; + skos:exactMatch UMLS:C1416617, + HGNC:6299, + HGNC_symbol:KCNQ5 ; biolink:category biolink:Gene . OMIM:607358 a owl:Class ; @@ -236166,12 +244732,13 @@ OMIM:607358 a owl:Class ; PMID:9931335 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:240300 ; - oboInOwl:hasDbXref UMLS:C1412304 ; oboInOwl:hasExactSynonym "AIRE", "autoimmune regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:326 ; - skos:exactMatch HGNC_symbol:AIRE ; + skos:exactMatch UMLS:C1412304, + HGNC:360, + HGNC_symbol:AIRE ; biolink:category biolink:Gene . OMIM:607359 a owl:Class ; @@ -236183,25 +244750,27 @@ OMIM:607359 a owl:Class ; PMID:18418069, PMID:22446626, PMID:28336669 ; - oboInOwl:hasDbXref UMLS:C1537479 ; oboInOwl:hasExactSynonym "CCAR2", "cell division cycle and apoptosis regulator 2", "deleted 1n breast cancer 1", "kiaa1967 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57805 ; - skos:exactMatch HGNC_symbol:CCAR2 ; + skos:exactMatch UMLS:C1537479, + HGNC:23360, + HGNC_symbol:CCAR2 ; biolink:category biolink:Gene . OMIM:607360 a owl:Class ; rdfs:label "LACRT" ; IAO:0000142 PMID:11419941 ; - oboInOwl:hasDbXref UMLS:C1424273 ; oboInOwl:hasExactSynonym "LACRT", "lacritin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90070 ; - skos:exactMatch HGNC_symbol:LACRT ; + skos:exactMatch UMLS:C1424273, + HGNC:16430, + HGNC_symbol:LACRT ; biolink:category biolink:Gene . OMIM:607361 a owl:Class ; @@ -236212,11 +244781,11 @@ OMIM:607361 a owl:Class ; PMID:17377820, PMID:21462283, PMID:22121117 ; - oboInOwl:hasDbXref UMLS:C1846357 ; oboInOwl:hasExactSynonym "MKS3", "meckel syndrome, iia 3", "meckel-gruber syndrome, iia 3" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C1846357 ; biolink:category biolink:Disease . OMIM:607362 a owl:Class ; @@ -236226,13 +244795,14 @@ OMIM:607362 a owl:Class ; PMID:15258590, PMID:15258591, PMID:21423182 ; - oboInOwl:hasDbXref UMLS:C1428958 ; oboInOwl:hasExactSynonym "RGMA", "repulsive guidance molecule", "rgm domain family, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56963 ; - skos:exactMatch HGNC_symbol:RGMA ; + skos:exactMatch UMLS:C1428958, + HGNC:30308, + HGNC_symbol:RGMA ; biolink:category biolink:Gene . OMIM:607363 a owl:Class ; @@ -236240,14 +244810,15 @@ OMIM:607363 a owl:Class ; IAO:0000142 PMID:11146660, PMID:11590237, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1424852 ; oboInOwl:hasExactSynonym "KNTC1", "kiaa0166", "kinetochore-associated protein 1", "rough deal, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9735 ; - skos:exactMatch HGNC_symbol:KNTC1 ; + skos:exactMatch UMLS:C1424852, + HGNC:17255, + HGNC_symbol:KNTC1 ; biolink:category biolink:Gene . OMIM:607364 a owl:Class ; @@ -236288,13 +244859,13 @@ OMIM:607364 a owl:Class ; PMID:820194, PMID:8640224, PMID:9326936 ; - oboInOwl:hasDbXref UMLS:C1846343, - UMLS:C1846344 ; oboInOwl:hasExactSynonym "BARTS3", "bartter syndrome, iia 3", "bartter syndrome, iia 3, with hypocalciuria", "bartter syndrome, classic" ; rdfs:subClassOf OMIMPS:601678 ; + skos:exactMatch UMLS:C1846343, + UMLS:C1846344 ; biolink:category biolink:Disease . OMIM:607365 a owl:Class ; @@ -236309,7 +244880,6 @@ OMIM:607365 a owl:Class ; PMID:21426374 ; RO:0002525 CHR:9606chr3q27.2 ; RO:0003303 OMIM:604379 ; - oboInOwl:hasDbXref UMLS:C1425545 ; oboInOwl:hasExactSynonym "LIPH", "lipase h", "lpd lipase-related protein", @@ -236317,7 +244887,9 @@ OMIM:607365 a owl:Class ; "phospholipase a1, phosphatidic acid-selective, membrane-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200879 ; - skos:exactMatch HGNC_symbol:LIPH ; + skos:exactMatch UMLS:C1425545, + HGNC:18483, + HGNC_symbol:LIPH ; biolink:category biolink:Gene . OMIM:607366 a owl:Class ; @@ -236325,13 +244897,14 @@ OMIM:607366 a owl:Class ; IAO:0000142 PMID:11060316, PMID:11263999, PMID:25148687 ; - oboInOwl:hasDbXref UMLS:C1416593 ; oboInOwl:hasExactSynonym "KCNK12", "potassium channel, subfamily k, member 12", "tandem pore domain halothane-inhibited potassium channel 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56660 ; - skos:exactMatch HGNC_symbol:KCNK12 ; + skos:exactMatch UMLS:C1416593, + HGNC:6274, + HGNC_symbol:KCNK12 ; biolink:category biolink:Gene . OMIM:607367 a owl:Class ; @@ -236339,13 +244912,14 @@ OMIM:607367 a owl:Class ; IAO:0000142 PMID:11060316, PMID:25148687, PMID:29290552 ; - oboInOwl:hasDbXref UMLS:C1416594 ; oboInOwl:hasExactSynonym "KCNK13", "potassium channel, subfamily k, member 13", "tandem pore domain halothane-inhibited potassium channel 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56659 ; - skos:exactMatch HGNC_symbol:KCNK13 ; + skos:exactMatch UMLS:C1416594, + HGNC:6275, + HGNC_symbol:KCNK13 ; biolink:category biolink:Gene . OMIM:607368 a owl:Class ; @@ -236353,48 +244927,51 @@ OMIM:607368 a owl:Class ; IAO:0000142 PMID:11409881, PMID:11431495, PMID:11749039 ; - oboInOwl:hasDbXref UMLS:C1422209 ; oboInOwl:hasExactSynonym "KCNK15", "potassium channel, subfamily k, member 15", "twik-related acid-sensitive k+ channel 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60598 ; - skos:exactMatch HGNC_symbol:KCNK15 ; + skos:exactMatch UMLS:C1422209, + HGNC:13814, + HGNC_symbol:KCNK15 ; biolink:category biolink:Gene . OMIM:607369 a owl:Class ; rdfs:label "KCNK16" ; IAO:0000142 PMID:11263999 ; - oboInOwl:hasDbXref UMLS:C1422670 ; oboInOwl:hasExactSynonym "KCNK16", "potassium channel, subfamily k, member 16", "twik-related alkaline ph-activated k+ channel 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83795 ; - skos:exactMatch HGNC_symbol:KCNK16 ; + skos:exactMatch UMLS:C1422670, + HGNC:14464, + HGNC_symbol:KCNK16 ; biolink:category biolink:Gene . OMIM:607370 a owl:Class ; rdfs:label "KCNK17" ; IAO:0000142 PMID:11248242, PMID:11263999 ; - oboInOwl:hasDbXref UMLS:C1422671 ; oboInOwl:hasExactSynonym "KCNK17", "potassium channel, subfamily k, member 17", "twik-related acid-sensitive k+ channel 4", "twik-related alkaline ph-activated k+ channel 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89822 ; - skos:exactMatch HGNC_symbol:KCNK17 ; + skos:exactMatch UMLS:C1422671, + HGNC:14465, + HGNC_symbol:KCNK17 ; biolink:category biolink:Gene . OMIM:607371 a owl:Class ; rdfs:label "dystonia, juvenile-onset" ; IAO:0000142 PMID:12325076, PMID:16685646 ; - oboInOwl:hasDbXref UMLS:C1846331 ; oboInOwl:hasExactSynonym "DJO", "dystonia, juvenile-onset" ; + skos:exactMatch UMLS:C1846331 ; biolink:category biolink:Disease . OMIM:607372 a owl:Class ; @@ -236404,7 +244981,6 @@ OMIM:607372 a owl:Class ; PMID:11414760, PMID:12167862, PMID:16799563 ; - oboInOwl:hasDbXref UMLS:C1422509 ; oboInOwl:hasExactSynonym "MED15", "activator-recruited cofactor, 105-kd", "mediator complex subunit 15", @@ -236412,14 +244988,15 @@ OMIM:607372 a owl:Class ; "tpa-inducible gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51586 ; - skos:exactMatch HGNC_symbol:MED15 ; + skos:exactMatch UMLS:C1422509, + HGNC:14248, + HGNC_symbol:MED15 ; biolink:category biolink:Gene . OMIM:607374 a owl:Class ; rdfs:label "PRKRIR" ; IAO:0000142 PMID:12575992, PMID:9447982 ; - oboInOwl:hasDbXref UMLS:C1418933 ; oboInOwl:hasExactSynonym "PRKRIR", "p58 repressor", "prkr inhibitor, repressor of", @@ -236429,7 +245006,9 @@ OMIM:607374 a owl:Class ; "thap domain-containing protein 0" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5612 ; - skos:exactMatch HGNC_symbol:THAP12 ; + skos:exactMatch UMLS:C1418933, + HGNC:9440, + HGNC_symbol:THAP12 ; biolink:category biolink:Gene . OMIM:607375 a owl:Class ; @@ -236440,7 +245019,6 @@ OMIM:607375 a owl:Class ; PMID:18449190, PMID:22388813, PMID:28931923 ; - oboInOwl:hasDbXref UMLS:C1428431 ; oboInOwl:hasExactSynonym "DOT1L", "dot1, s. cerevisiae, homolog of", "dot1-like", @@ -236448,45 +245026,50 @@ OMIM:607375 a owl:Class ; "kiaa1814" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84444 ; - skos:exactMatch HGNC_symbol:DOT1L ; + skos:exactMatch UMLS:C1428431, + HGNC:24948, + HGNC_symbol:DOT1L ; biolink:category biolink:Gene . OMIM:607376 a owl:Class ; rdfs:label "DCTN2" ; IAO:0000142 PMID:12062019 ; - oboInOwl:hasDbXref UMLS:C1413936 ; oboInOwl:hasExactSynonym "DCTN2", "dynactin 2", "dynactin complex, 50-kd subunit", "dynamitin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10540 ; - skos:exactMatch HGNC_symbol:DCTN2 ; + skos:exactMatch UMLS:C1413936, + HGNC:2712, + HGNC_symbol:DCTN2 ; biolink:category biolink:Gene . OMIM:607377 a owl:Class ; rdfs:label "LENEP" ; IAO:0000142 PMID:11376938 ; - oboInOwl:hasDbXref UMLS:C1422639 ; oboInOwl:hasExactSynonym "LENEP", "lens epithelial protein", "lep503, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55891 ; - skos:exactMatch HGNC_symbol:LENEP ; + skos:exactMatch UMLS:C1422639, + HGNC:14429, + HGNC_symbol:LENEP ; biolink:category biolink:Gene . OMIM:607378 a owl:Class ; rdfs:label "SERBP1" ; IAO:0000142 PMID:11001948 ; - oboInOwl:hasDbXref UMLS:C1822676 ; oboInOwl:hasExactSynonym "SERBP1", "pai1 rna-binding protein 1", "pairbp1", "serpine1 mrna-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26135 ; - skos:exactMatch HGNC_symbol:SERBP1 ; + skos:exactMatch UMLS:C1822676, + HGNC:17860, + HGNC_symbol:SERBP1 ; biolink:category biolink:Gene . OMIM:607379 a owl:Class ; @@ -236561,14 +245144,15 @@ OMIM:607379 a owl:Class ; PMID:9931334 ; RO:0002525 CHR:9606chr22q12.2 ; RO:0003303 OMIM:162091 ; - oboInOwl:hasDbXref UMLS:C0085114 ; oboInOwl:hasExactSynonym "NF2", "merlin", "neurofibromin 2", "schwannomin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4771 ; - skos:exactMatch HGNC_symbol:NF2 ; + skos:exactMatch UMLS:C0085114, + HGNC:7773, + HGNC_symbol:NF2 ; biolink:category biolink:Gene . OMIM:607380 a owl:Class ; @@ -236579,7 +245163,6 @@ OMIM:607380 a owl:Class ; PMID:26487268 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:616629 ; - oboInOwl:hasDbXref UMLS:C1425137 ; oboInOwl:hasExactSynonym "TRAF3IP1", "intraflagellar transport protein 54, chlamydomonas, homolog of", "microtubule-interacting protein associated with traf3", @@ -236587,7 +245170,9 @@ OMIM:607380 a owl:Class ; "traf3-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26146 ; - skos:exactMatch HGNC_symbol:TRAF3IP1 ; + skos:exactMatch UMLS:C1425137, + HGNC:17861, + HGNC_symbol:TRAF3IP1 ; biolink:category biolink:Gene . OMIM:607381 a owl:Class ; @@ -236599,27 +245184,29 @@ OMIM:607381 a owl:Class ; PMID:32369862 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:617698 ; - oboInOwl:hasDbXref UMLS:C1428182, - UMLS:C4540171 ; oboInOwl:hasExactSynonym "TIMM50", "translocase of inner mitochondrial membrane 50", "translocase of inner mitochondrial membrane 50, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92609 ; - skos:exactMatch HGNC_symbol:TIMM50 ; + skos:exactMatch UMLS:C1428182, + UMLS:C4540171, + HGNC:23656, + HGNC_symbol:TIMM50 ; biolink:category biolink:Gene . OMIM:607382 a owl:Class ; rdfs:label "CLIP3" ; IAO:0000142 PMID:11854307, PMID:25572395 ; - oboInOwl:hasDbXref UMLS:C1824748 ; oboInOwl:hasExactSynonym "CLIP3", "cap-gly domain-containing linker protein 3", "cytoplasmic linker protein 170-related protein, 59-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25999 ; - skos:exactMatch HGNC_symbol:CLIP3 ; + skos:exactMatch UMLS:C1824748, + HGNC:24314, + HGNC_symbol:CLIP3 ; biolink:category biolink:Gene . OMIM:607383 a owl:Class ; @@ -236628,37 +245215,40 @@ OMIM:607383 a owl:Class ; PMID:10611480, PMID:15254020, PMID:1630457 ; - oboInOwl:hasDbXref UMLS:C1420739 ; oboInOwl:hasExactSynonym "TIMM13", "tim13, yeast, homolog of", "translocase of inner mitochondrial membrane 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26517 ; - skos:exactMatch HGNC_symbol:TIMM13 ; + skos:exactMatch UMLS:C1420739, + HGNC:11816, + HGNC_symbol:TIMM13 ; biolink:category biolink:Gene . OMIM:607384 a owl:Class ; rdfs:label "TIMM9" ; IAO:0000142 PMID:10552927, PMID:10611480 ; - oboInOwl:hasDbXref UMLS:C1420742 ; oboInOwl:hasExactSynonym "TIMM9", "tim9, yeast, homolog of", "translocase of inner mitochondrial membrane 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26520 ; - skos:exactMatch HGNC_symbol:TIMM9 ; + skos:exactMatch UMLS:C1420742, + HGNC:11819, + HGNC_symbol:TIMM9 ; biolink:category biolink:Gene . OMIM:607385 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10570912 ; - oboInOwl:hasDbXref UMLS:C1825986 ; oboInOwl:hasExactSynonym "gnt-iv-h", "udp-n-acetylglucosamine:alpha-1,3-d-mannoside beta-1,4-n-acetylglucosaminyltransferase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25834 ; - skos:exactMatch HGNC_symbol:MGAT4C ; + skos:exactMatch UMLS:C1825986, + HGNC:30871, + HGNC_symbol:MGAT4C ; biolink:category biolink:Gene . OMIM:607386 a owl:Class ; @@ -236671,7 +245261,6 @@ OMIM:607386 a owl:Class ; PMID:25168386 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:615630 ; - oboInOwl:hasDbXref UMLS:C1825575 ; oboInOwl:hasExactSynonym "IFT172", "intraflagellar transport 172", "intraflagellar transport 172, chlamydomonas, homolog of", @@ -236679,34 +245268,38 @@ OMIM:607386 a owl:Class ; "selective lim-binding factor, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26160 ; - skos:exactMatch HGNC_symbol:IFT172 ; + skos:exactMatch UMLS:C1825575, + HGNC:30391, + HGNC_symbol:IFT172 ; biolink:category biolink:Gene . OMIM:607387 a owl:Class ; rdfs:label "DCTN3" ; IAO:0000142 PMID:11306820, PMID:9722614 ; - oboInOwl:hasDbXref UMLS:C1413937 ; oboInOwl:hasExactSynonym "DCTN3", "dynactin 3", "dynactin complex, 22-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11258 ; - skos:exactMatch HGNC_symbol:DCTN3 ; + skos:exactMatch UMLS:C1413937, + HGNC:2713, + HGNC_symbol:DCTN3 ; biolink:category biolink:Gene . OMIM:607388 a owl:Class ; rdfs:label "TIMM10B" ; IAO:0000142 PMID:10552927, PMID:9731230 ; - oboInOwl:hasDbXref UMLS:C1414871 ; oboInOwl:hasExactSynonym "TIMM10B", "fracture callus 1, rat, homolog of", "tim10, yeast, homolog of, B", "translocase of inner mitochondrial membrane 10b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26515 ; - skos:exactMatch HGNC_symbol:TIMM10B ; + skos:exactMatch UMLS:C1414871, + HGNC:4022, + HGNC_symbol:TIMM10B ; biolink:category biolink:Gene . OMIM:607389 a owl:Class ; @@ -236714,36 +245307,39 @@ OMIM:607389 a owl:Class ; IAO:0000142 PMID:12079286, PMID:19683501, PMID:25238756 ; - oboInOwl:hasDbXref UMLS:C1423760 ; oboInOwl:hasExactSynonym "SSBP2", "sensor of single-stranded DNA complex, subunit b2", "single-stranded dna-binding protein 2", "soss complex, subunit b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23635 ; - skos:exactMatch HGNC_symbol:SSBP2 ; + skos:exactMatch UMLS:C1423760, + HGNC:15831, + HGNC_symbol:SSBP2 ; biolink:category biolink:Gene . OMIM:607390 a owl:Class ; rdfs:label "SSBP3" ; IAO:0000142 PMID:12079286 ; - oboInOwl:hasDbXref UMLS:C1423648 ; oboInOwl:hasExactSynonym "SSBP3", "single-stranded dna-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23648 ; - skos:exactMatch HGNC_symbol:SSBP3 ; + skos:exactMatch UMLS:C1423648, + HGNC:15674, + HGNC_symbol:SSBP3 ; biolink:category biolink:Gene . OMIM:607391 a owl:Class ; rdfs:label "SSBP4" ; IAO:0000142 PMID:12079286 ; - oboInOwl:hasDbXref UMLS:C1423649 ; oboInOwl:hasExactSynonym "SSBP4", "single-stranded dna-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170463 ; - skos:exactMatch HGNC_symbol:SSBP4 ; + skos:exactMatch UMLS:C1423649, + HGNC:15676, + HGNC_symbol:SSBP4 ; biolink:category biolink:Gene . OMIM:607392 a owl:Class ; @@ -236758,13 +245354,14 @@ OMIM:607392 a owl:Class ; PMID:27926730, PMID:30401838, PMID:31754005 ; - oboInOwl:hasDbXref UMLS:C1538117 ; oboInOwl:hasExactSynonym "WWTR1", "transcriptional coactivator with pdz-binding motif", "ww domain-containing transcription regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25937 ; - skos:exactMatch HGNC_symbol:WWTR1 ; + skos:exactMatch UMLS:C1538117, + HGNC:24042, + HGNC_symbol:WWTR1 ; biolink:category biolink:Gene . OMIM:607393 a owl:Class ; @@ -236781,7 +245378,6 @@ OMIM:607393 a owl:Class ; PMID:16720667 ; RO:0002525 CHR:9606chr1q31.2 ; RO:0003303 OMIM:608266 ; - oboInOwl:hasDbXref UMLS:C1708291 ; oboInOwl:hasExactSynonym "CDC73", "cell division cycle 73", "cell division cycle protein 73, s. cerevisiae, homolog of", @@ -236791,7 +245387,9 @@ OMIM:607393 a owl:Class ; "parafibromin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79577 ; - skos:exactMatch HGNC_symbol:CDC73 ; + skos:exactMatch UMLS:C1708291, + HGNC:16783, + HGNC_symbol:CDC73 ; biolink:category biolink:Gene . OMIM:607394 a owl:Class ; @@ -236803,33 +245401,35 @@ OMIM:607394 a owl:Class ; PMID:26762460, PMID:31002798, PMID:8441607 ; - oboInOwl:hasDbXref UMLS:C1426490 ; oboInOwl:hasExactSynonym "POU2F3", "octamer-binding transcription factor 11", "pou domain, class 2, transcription factor 3", "skn1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25833 ; - skos:exactMatch HGNC_symbol:POU2F3 ; + skos:exactMatch UMLS:C1426490, + HGNC:19864, + HGNC_symbol:POU2F3 ; biolink:category biolink:Gene . OMIM:607395 a owl:Class ; rdfs:label "streptococcus, group a, severity of infection by" ; IAO:0000142 PMID:12436116 ; - oboInOwl:hasDbXref UMLS:C1846298 ; - oboInOwl:hasExactSynonym "streptococcus, group a, severity of infection by" . + oboInOwl:hasExactSynonym "streptococcus, group a, severity of infection by" ; + skos:exactMatch UMLS:C1846298 . OMIM:607396 a owl:Class ; rdfs:label "TOB2" ; IAO:0000142 PMID:10602502, PMID:10940559 ; - oboInOwl:hasDbXref UMLS:C1420852 ; oboInOwl:hasExactSynonym "TOB2", "kiaa1663", "transducer of erbb2, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10766 ; - skos:exactMatch HGNC_symbol:TOB2 ; + skos:exactMatch UMLS:C1420852, + HGNC:11980, + HGNC_symbol:TOB2 ; biolink:category biolink:Gene . OMIM:607397 a owl:Class ; @@ -236850,7 +245450,6 @@ OMIM:607397 a owl:Class ; PMID:9284742 ; RO:0002525 CHR:9606chr18p11.21 ; RO:0003303 OMIM:202200 ; - oboInOwl:hasDbXref UMLS:C1417062 ; oboInOwl:hasExactSynonym "MC2R", "acth receptor", "corticotropin receptor", @@ -236858,7 +245457,9 @@ OMIM:607397 a owl:Class ; "melanocortin 2 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4158 ; - skos:exactMatch HGNC_symbol:MC2R ; + skos:exactMatch UMLS:C1417062, + HGNC:6930, + HGNC_symbol:MC2R ; biolink:category biolink:Gene . OMIM:607399 a owl:Class ; @@ -236866,13 +245467,14 @@ OMIM:607399 a owl:Class ; IAO:0000142 PMID:12403827, PMID:16606612, PMID:17662026 ; - oboInOwl:hasDbXref UMLS:C1421948 ; oboInOwl:hasExactSynonym "MCOLN2", "mucolipin 2", "transient receptor potential cation channel, mucolipin subfamily, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255231 ; - skos:exactMatch HGNC_symbol:MCOLN2 ; + skos:exactMatch UMLS:C1421948, + HGNC:13357, + HGNC_symbol:MCOLN2 ; biolink:category biolink:Gene . OMIM:607400 a owl:Class ; @@ -236884,13 +245486,14 @@ OMIM:607400 a owl:Class ; PMID:17989217, PMID:18048323, PMID:29019979 ; - oboInOwl:hasDbXref UMLS:C1421949 ; oboInOwl:hasExactSynonym "MCOLN3", "mucolipin 3", "transient receptor potential cation channel, mucolipin subfamily, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55283 ; - skos:exactMatch HGNC_symbol:MCOLN3 ; + skos:exactMatch UMLS:C1421949, + HGNC:13358, + HGNC_symbol:MCOLN3 ; biolink:category biolink:Gene . OMIM:607401 a owl:Class ; @@ -236900,13 +245503,14 @@ OMIM:607401 a owl:Class ; PMID:25941255, PMID:32527925, PMID:32527928 ; - oboInOwl:hasDbXref UMLS:C1425474 ; oboInOwl:hasExactSynonym "IFNL2", "interferon, lambda-2", "interleukin 28a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282616 ; - skos:exactMatch HGNC_symbol:IFNL2 ; + skos:exactMatch UMLS:C1425474, + HGNC:18364, + HGNC_symbol:IFNL2 ; biolink:category biolink:Gene . OMIM:607402 a owl:Class ; @@ -236923,13 +245527,14 @@ OMIM:607402 a owl:Class ; PMID:32527928 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:609532 ; - oboInOwl:hasDbXref UMLS:C1425475 ; oboInOwl:hasExactSynonym "IFNL3", "interferon, lambda-3", "interleukin 28b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282617 ; - skos:exactMatch HGNC_symbol:IFNL3 ; + skos:exactMatch UMLS:C1425475, + HGNC:18365, + HGNC_symbol:IFNL3 ; biolink:category biolink:Gene . OMIM:607403 a owl:Class ; @@ -236939,13 +245544,14 @@ OMIM:607403 a owl:Class ; PMID:21398614, PMID:32527925, PMID:32527928 ; - oboInOwl:hasDbXref UMLS:C1425473 ; oboInOwl:hasExactSynonym "IFNL1", "interferon, lambda-1", "interleukin 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282618 ; - skos:exactMatch HGNC_symbol:IFNL1 ; + skos:exactMatch UMLS:C1425473, + HGNC:18363, + HGNC_symbol:IFNL1 ; biolink:category biolink:Gene . OMIM:607404 a owl:Class ; @@ -236957,13 +245563,14 @@ OMIM:607404 a owl:Class ; PMID:25431490, PMID:32527925, PMID:32527928 ; - oboInOwl:hasDbXref UMLS:C1425622 ; oboInOwl:hasExactSynonym "IFNLR1", "interferon-lambda receptor 1", "interleukin 28 receptor, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163702 ; - skos:exactMatch HGNC_symbol:IFNLR1 ; + skos:exactMatch UMLS:C1425622, + HGNC:18584, + HGNC_symbol:IFNLR1 ; biolink:category biolink:Gene . OMIM:607405 a owl:Class ; @@ -236971,13 +245578,14 @@ OMIM:607405 a owl:Class ; IAO:0000142 PMID:15329799, PMID:15718104, PMID:9464258 ; - oboInOwl:hasDbXref UMLS:C1539912 ; oboInOwl:hasExactSynonym "TAAR5", "putative neurotransmitter receptor", "trace amine-associated receptor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9038 ; - skos:exactMatch HGNC_symbol:TAAR5 ; + skos:exactMatch UMLS:C1539912, + HGNC:30236, + HGNC_symbol:TAAR5 ; biolink:category biolink:Gene . OMIM:607406 a owl:Class ; @@ -236985,14 +245593,15 @@ OMIM:607406 a owl:Class ; IAO:0000142 PMID:20810658, PMID:8828038, PMID:9794794 ; - oboInOwl:hasDbXref UMLS:C1846283 ; oboInOwl:hasExactSynonym "STBD1", "genethonin 1", "genex3414", "starch-binding domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8987 ; - skos:exactMatch HGNC_symbol:STBD1 ; + skos:exactMatch UMLS:C1846283, + HGNC:24854, + HGNC_symbol:STBD1 ; biolink:category biolink:Gene . OMIM:607407 a owl:Class ; @@ -237003,13 +245612,14 @@ OMIM:607407 a owl:Class ; PMID:28017373 ; RO:0002525 CHR:9606chr10q26.3 ; RO:0003303 OMIM:617330 ; - oboInOwl:hasDbXref UMLS:C1426003 ; oboInOwl:hasExactSynonym "EBF3", "collier/olf1/ebf transcription factor 3", "early b-cell factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253738 ; - skos:exactMatch HGNC_symbol:EBF3 ; + skos:exactMatch UMLS:C1426003, + HGNC:19087, + HGNC_symbol:EBF3 ; biolink:category biolink:Gene . OMIM:607408 a owl:Class ; @@ -237021,26 +245631,28 @@ OMIM:607408 a owl:Class ; PMID:9731535 ; RO:0002525 CHR:9606chr13q33.2 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1427399 ; oboInOwl:hasExactSynonym "DAOA", "d-amino acid oxidase activator", "g72" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:267012 ; - skos:exactMatch HGNC_symbol:DAOA ; + skos:exactMatch UMLS:C1427399, + HGNC:21191, + HGNC_symbol:DAOA ; biolink:category biolink:Gene . OMIM:607409 a owl:Class ; rdfs:label "NRN1" ; IAO:0000142 PMID:22733766, PMID:9122250 ; - oboInOwl:hasDbXref UMLS:C1425210 ; oboInOwl:hasExactSynonym "NRN1", "neuritin", "neuritin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51299 ; - skos:exactMatch HGNC_symbol:NRN1 ; + skos:exactMatch UMLS:C1425210, + HGNC:17972, + HGNC_symbol:NRN1 ; biolink:category biolink:Gene . OMIM:607410 a owl:Class ; @@ -237048,13 +245660,14 @@ OMIM:607410 a owl:Class ; IAO:0000142 PMID:12055180, PMID:15314164, PMID:17873059 ; - oboInOwl:hasDbXref UMLS:C1425962 ; oboInOwl:hasExactSynonym "DMBX1", "diencephalon/mesencephalon homeobox 1", "orthodenticle, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127343 ; - skos:exactMatch HGNC_symbol:DMBX1 ; + skos:exactMatch UMLS:C1425962, + HGNC:19026, + HGNC_symbol:DMBX1 ; biolink:category biolink:Gene . OMIM:607412 a owl:Class ; @@ -237068,23 +245681,24 @@ OMIM:607412 a owl:Class ; PMID:19541605, PMID:24048904, PMID:9837828 ; - oboInOwl:hasDbXref UMLS:C1423701 ; oboInOwl:hasExactSynonym "BPIFA1", "bpi fold-containing protein, family a, member 1", "palate, lung, and nasal epithelium carcinoma-associated protein", "splunc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51297 ; - skos:exactMatch HGNC_symbol:BPIFA1 ; + skos:exactMatch UMLS:C1423701, + HGNC:15749, + HGNC_symbol:BPIFA1 ; biolink:category biolink:Gene . OMIM:607413 a owl:Class ; rdfs:label "alzheimer disease neuronal thread protein" ; IAO:0000142 PMID:15652152, PMID:2394826 ; - oboInOwl:hasDbXref UMLS:C1846282 ; oboInOwl:hasExactSynonym "ad7cntp", - "alzheimer disease neuronal thread protein" . + "alzheimer disease neuronal thread protein" ; + skos:exactMatch UMLS:C1846282 . OMIM:607414 a owl:Class ; rdfs:label "FEZF2" ; @@ -237097,7 +245711,6 @@ OMIM:607414 a owl:Class ; PMID:22678282, PMID:26544942, PMID:28751609 ; - oboInOwl:hasDbXref UMLS:C1825291 ; oboInOwl:hasExactSynonym "FEZF2", "fez family zinc finger protein 2", "forebrain embryonic zinc finger-like", @@ -237105,7 +245718,9 @@ OMIM:607414 a owl:Class ; "zinc finger protein 312" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55079 ; - skos:exactMatch HGNC_symbol:FEZF2 ; + skos:exactMatch UMLS:C1825291, + HGNC:13506, + HGNC_symbol:FEZF2 ; biolink:category biolink:Gene . OMIM:607415 a owl:Class ; @@ -237114,13 +245729,14 @@ OMIM:607415 a owl:Class ; PMID:15271585, PMID:16585465, PMID:9731535 ; - oboInOwl:hasDbXref UMLS:C1843948 ; oboInOwl:hasExactSynonym "DAOAAS", "daoa antisense RNA", "g30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282706 ; - skos:exactMatch HGNC_symbol:DAOA-AS1 ; + skos:exactMatch UMLS:C1843948, + HGNC:30243, + HGNC_symbol:DAOA-AS1 ; biolink:category biolink:Gene . OMIM:607416 a owl:Class ; @@ -237130,7 +245746,6 @@ OMIM:607416 a owl:Class ; PMID:14699608, PMID:17178404, PMID:9799093 ; - oboInOwl:hasDbXref UMLS:C1413393 ; oboInOwl:hasExactSynonym "CHL1", "call", "cell adhesion molecule l1-like", @@ -237138,21 +245753,24 @@ OMIM:607416 a owl:Class ; "l1 cell adhesion molecule 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10752 ; - skos:exactMatch HGNC_symbol:CHL1 ; + skos:exactMatch UMLS:C1413393, + HGNC:1939, + HGNC_symbol:CHL1 ; biolink:category biolink:Gene . OMIM:607418 a owl:Class ; rdfs:label "GCC1" ; IAO:0000142 PMID:10209125, PMID:12446665 ; - oboInOwl:hasDbXref UMLS:C1426008 ; oboInOwl:hasExactSynonym "GCC1", "gcc protein, 88-kd", "golgi coiled-coil protein 1", "grip and coiled-coil domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79571 ; - skos:exactMatch HGNC_symbol:GCC1 ; + skos:exactMatch UMLS:C1426008, + HGNC:19095, + HGNC_symbol:GCC1 ; biolink:category biolink:Gene . OMIM:607419 a owl:Class ; @@ -237161,13 +245779,14 @@ OMIM:607419 a owl:Class ; PMID:12065586, PMID:16434402, PMID:17023415 ; - oboInOwl:hasDbXref UMLS:C1426635 ; oboInOwl:hasExactSynonym "GEMIN7", "gem nuclear organelle-associated protein 7", "gem-associated protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79760 ; - skos:exactMatch HGNC_symbol:GEMIN7 ; + skos:exactMatch UMLS:C1426635, + HGNC:20045, + HGNC_symbol:GEMIN7 ; biolink:category biolink:Gene . OMIM:607420 a owl:Class ; @@ -237177,7 +245796,6 @@ OMIM:607420 a owl:Class ; PMID:14530254, PMID:20562859, PMID:8495796 ; - oboInOwl:hasDbXref UMLS:C1414902 ; oboInOwl:hasExactSynonym "GABARAPL1", "apg8-like", "gaba-a receptor-associated protein-like protein 1", @@ -237185,7 +245803,9 @@ OMIM:607420 a owl:Class ; "glandular epithelial cell protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23710 ; - skos:exactMatch HGNC_symbol:GABARAPL1 ; + skos:exactMatch UMLS:C1414902, + HGNC:4068, + HGNC_symbol:GABARAPL1 ; biolink:category biolink:Gene . OMIM:607421 a owl:Class ; @@ -237194,26 +245814,28 @@ OMIM:607421 a owl:Class ; PMID:17360648 ; RO:0002525 CHR:9606chr7p14.1 ; RO:0003303 OMIM:610852 ; - oboInOwl:hasDbXref UMLS:C1424308 ; oboInOwl:hasExactSynonym "NME8", "nme/nm23 family, member 8", "sperm-specific thioredoxin 2", "thioredoxin domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51314 ; - skos:exactMatch HGNC_symbol:NME8 ; + skos:exactMatch UMLS:C1424308, + HGNC:16473, + HGNC_symbol:NME8 ; biolink:category biolink:Gene . OMIM:607422 a owl:Class ; rdfs:label "GCAT" ; IAO:0000142 PMID:10712613 ; - oboInOwl:hasDbXref UMLS:C1415008 ; oboInOwl:hasExactSynonym "2-amino-3-ketobutyrate coenzyme a ligase", "GCAT", "glycine c-acetyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23464 ; - skos:exactMatch HGNC_symbol:GCAT ; + skos:exactMatch UMLS:C1415008, + HGNC:4188, + HGNC_symbol:GCAT ; biolink:category biolink:Gene . OMIM:607423 a owl:Class ; @@ -237235,16 +245857,17 @@ OMIM:607423 a owl:Class ; PMID:22549409 ; RO:0002525 CHR:9606chr9q34.13 ; RO:0003303 OMIM:609308 ; - oboInOwl:hasDbXref UMLS:C1418752, - UMLS:C1836373, - UMLS:C4284790, - UMLS:C5436962 ; oboInOwl:hasExactSynonym "POMT1", "protein o-mannosyltransferase 1", "rotated abdomen, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10585 ; - skos:exactMatch HGNC_symbol:POMT1 ; + skos:exactMatch UMLS:C1418752, + UMLS:C1836373, + UMLS:C4284790, + UMLS:C5436962, + HGNC:9202, + HGNC_symbol:POMT1 ; biolink:category biolink:Gene . OMIM:607424 a owl:Class ; @@ -237252,14 +245875,15 @@ OMIM:607424 a owl:Class ; IAO:0000142 PMID:22475485, PMID:7802672, PMID:9202629 ; - oboInOwl:hasDbXref UMLS:C1422172 ; oboInOwl:hasExactSynonym "GLYAT", "acyl-coa:glycine n-acyltransferase", "gat", "glycine n-acyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10249 ; - skos:exactMatch HGNC_symbol:GLYAT ; + skos:exactMatch UMLS:C1422172, + HGNC:13734, + HGNC_symbol:GLYAT ; biolink:category biolink:Gene . OMIM:607425 a owl:Class ; @@ -237268,7 +245892,6 @@ OMIM:607425 a owl:Class ; PMID:12176752, PMID:16571663, PMID:16772377 ; - oboInOwl:hasDbXref UMLS:C1426042 ; oboInOwl:hasExactSynonym "GJD3", "connexin 31.9", "gap junction protein, 31.9-kd", @@ -237277,7 +245900,9 @@ OMIM:607425 a owl:Class ; "gap junction protein, delta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125111 ; - skos:exactMatch HGNC_symbol:GJD3 ; + skos:exactMatch UMLS:C1426042, + HGNC:19147, + HGNC_symbol:GJD3 ; biolink:category biolink:Gene . OMIM:607426 a owl:Class ; @@ -237299,8 +245924,6 @@ OMIM:607426 a owl:Class ; PMID:2928337, PMID:9153450, PMID:9559985 ; - oboInOwl:hasDbXref UMLS:C3551954, - ORPHA:255249 ; oboInOwl:hasExactSynonym "COQ10D1", "coenzyme Q10 deficiency, primary, 1", "coenzyme q deficiency 1", @@ -237308,6 +245931,8 @@ OMIM:607426 a owl:Class ; "coq10 deficiency, primary, 1", "ubiquinone deficiency 1" ; rdfs:subClassOf OMIMPS:607426 ; + skos:exactMatch UMLS:C3551954, + ORPHA:255249 ; biolink:category biolink:Disease . OMIM:607427 a owl:Class ; @@ -237315,13 +245940,14 @@ OMIM:607427 a owl:Class ; IAO:0000142 PMID:12084460, PMID:8493092, PMID:8764108 ; - oboInOwl:hasDbXref UMLS:C1539358 ; oboInOwl:hasExactSynonym "ENOSF1", "enolase superfamily member 1", "thymidylate synthase, antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55556 ; - skos:exactMatch HGNC_symbol:ENOSF1 ; + skos:exactMatch UMLS:C1539358, + HGNC:30365, + HGNC_symbol:ENOSF1 ; biolink:category biolink:Gene . OMIM:607428 a owl:Class ; @@ -237333,14 +245959,15 @@ OMIM:607428 a owl:Class ; PMID:31472902 ; RO:0002525 CHR:9606chr1q23.1 ; RO:0003303 OMIM:619201 ; - oboInOwl:hasDbXref UMLS:C1423691 ; oboInOwl:hasExactSynonym "KIRREL1", "kin of irre-like", "kirre-like nephrin family adhesion molecule 1", "nephrin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55243 ; - skos:exactMatch HGNC_symbol:KIRREL1 ; + skos:exactMatch UMLS:C1423691, + HGNC:15734, + HGNC_symbol:KIRREL1 ; biolink:category biolink:Gene . OMIM:607429 a owl:Class ; @@ -237352,7 +245979,6 @@ OMIM:607429 a owl:Class ; PMID:7752843 ; RO:0002525 CHR:9606chr10p12.1 ; RO:0003303 OMIM:614651 ; - oboInOwl:hasDbXref UMLS:C1843919 ; oboInOwl:hasExactSynonym "PDSS1", "coq1, s. cerevisiae, homolog of", "decaprenyl diphosphate synthase", @@ -237362,36 +245988,39 @@ OMIM:607429 a owl:Class ; "trans-prenyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23590 ; - skos:exactMatch HGNC_symbol:PDSS1 ; + skos:exactMatch UMLS:C1843919, + HGNC:17759, + HGNC_symbol:PDSS1 ; biolink:category biolink:Gene . OMIM:607430 a owl:Class ; rdfs:label "DAZAP1" ; IAO:0000142 PMID:10857750 ; - oboInOwl:hasDbXref UMLS:C1413912 ; oboInOwl:hasExactSynonym "DAZAP1", "daz-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26528 ; - skos:exactMatch HGNC_symbol:DAZAP1 ; + skos:exactMatch UMLS:C1413912, + HGNC:2683, + HGNC_symbol:DAZAP1 ; biolink:category biolink:Gene . OMIM:607431 a owl:Class ; rdfs:label "DAZAP2" ; IAO:0000142 PMID:10857750 ; - oboInOwl:hasDbXref UMLS:C1413913 ; oboInOwl:hasExactSynonym "DAZAP2", "daz-associated protein 2", "kiaa0058" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9802 ; - skos:exactMatch HGNC_symbol:DAZAP2 ; + skos:exactMatch UMLS:C1413913, + HGNC:2684, + HGNC_symbol:DAZAP2 ; biolink:category biolink:Gene . OMIM:607433 a owl:Class ; rdfs:label "TWF2" ; IAO:0000142 PMID:10406962 ; - oboInOwl:hasDbXref UMLS:C1843915 ; oboInOwl:hasExactSynonym "TWF2", "a6-related protein", "protein tyrosine kinase 9-like", @@ -237399,7 +246028,9 @@ OMIM:607433 a owl:Class ; "twinfilin, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11344 ; - skos:exactMatch HGNC_symbol:TWF2 ; + skos:exactMatch UMLS:C1843915, + HGNC:9621, + HGNC_symbol:TWF2 ; biolink:category biolink:Gene . OMIM:607434 a owl:Class ; @@ -237411,12 +246042,13 @@ OMIM:607434 a owl:Class ; PMID:29449720 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:617988 ; - oboInOwl:hasDbXref UMLS:C1415352 ; oboInOwl:hasExactSynonym "GTPBP2", "gtp-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54676 ; - skos:exactMatch HGNC_symbol:GTPBP2 ; + skos:exactMatch UMLS:C1415352, + HGNC:4670, + HGNC_symbol:GTPBP2 ; biolink:category biolink:Gene . OMIM:607435 a owl:Class ; @@ -237425,39 +246057,42 @@ OMIM:607435 a owl:Class ; PMID:28449065 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:617565 ; - oboInOwl:hasDbXref UMLS:C1414439, - UMLS:C1843914 ; oboInOwl:hasExactSynonym "ERAL1", "era g-protein-like 1", "eral1a", "eral1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26284 ; - skos:exactMatch HGNC_symbol:ERAL1 ; + skos:exactMatch UMLS:C1414439, + UMLS:C1843914, + HGNC:3424, + HGNC_symbol:ERAL1 ; biolink:category biolink:Gene . OMIM:607436 a owl:Class ; rdfs:label "PAPOLB" ; IAO:0000142 PMID:11150526, PMID:12471261 ; - oboInOwl:hasDbXref UMLS:C1423874 ; oboInOwl:hasExactSynonym "PAPOLB", "poly(a) polymerase, beta", "poly(a) polymerase, testis-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56903 ; - skos:exactMatch HGNC_symbol:PAPOLB ; + skos:exactMatch UMLS:C1423874, + HGNC:15970, + HGNC_symbol:PAPOLB ; biolink:category biolink:Gene . OMIM:607437 a owl:Class ; rdfs:label "GPRC5D" ; IAO:0000142 PMID:11311935 ; - oboInOwl:hasDbXref UMLS:C1421931 ; oboInOwl:hasExactSynonym "GPRC5D", "g protein-coupled receptor, family c, group 5, member d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55507 ; - skos:exactMatch HGNC_symbol:GPRC5D ; + skos:exactMatch UMLS:C1421931, + HGNC:13310, + HGNC_symbol:GPRC5D ; biolink:category biolink:Gene . OMIM:607438 a owl:Class ; @@ -237477,15 +246112,16 @@ OMIM:607439 a owl:Class ; PMID:19299310 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:613158 ; - oboInOwl:hasDbXref UMLS:C1426379, - UMLS:C3150411, - UMLS:C3150416, - UMLS:C3150418 ; oboInOwl:hasExactSynonym "POMT2", "protein o-mannosyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29954 ; - skos:exactMatch HGNC_symbol:POMT2 ; + skos:exactMatch UMLS:C1426379, + UMLS:C3150411, + UMLS:C3150416, + UMLS:C3150418, + HGNC:19743, + HGNC_symbol:POMT2 ; biolink:category biolink:Gene . OMIM:607440 a owl:Class ; @@ -237517,29 +246153,31 @@ OMIM:607440 a owl:Class ; PMID:9690476 ; RO:0002525 CHR:9606chr9q31.2 ; RO:0003303 OMIM:611588 ; - oboInOwl:hasDbXref UMLS:C0410174, - UMLS:C1414558, - UMLS:C1969024, - UMLS:C1969040, - UMLS:C2751052, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "FKTN", "fcmd gene", "fukutin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2218 ; - skos:exactMatch HGNC_symbol:FKTN ; + skos:exactMatch UMLS:C0410174, + UMLS:C1414558, + UMLS:C1969024, + UMLS:C1969040, + UMLS:C2751052, + UMLS:C4015968, + HGNC:3622, + HGNC_symbol:FKTN ; biolink:category biolink:Gene . OMIM:607441 a owl:Class ; rdfs:label "EPSTI1" ; IAO:0000142 PMID:11991720 ; - oboInOwl:hasDbXref UMLS:C1333351 ; oboInOwl:hasExactSynonym "EPSTI1", "epithelial stromal interaction 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94240 ; - skos:exactMatch HGNC_symbol:EPSTI1 ; + skos:exactMatch UMLS:C1333351, + HGNC:16465, + HGNC_symbol:EPSTI1 ; biolink:category biolink:Gene . OMIM:607442 a owl:Class ; @@ -237547,25 +246185,27 @@ OMIM:607442 a owl:Class ; IAO:0000142 PMID:10995578, PMID:17625570, PMID:25337876 ; - oboInOwl:hasDbXref UMLS:C1412993 ; oboInOwl:hasExactSynonym "EML4", "echinoderm microtubule-associated protein-like 4", "eml4-alk fusion gene", "ropp120" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27436 ; - skos:exactMatch HGNC_symbol:EML4 ; + skos:exactMatch UMLS:C1412993, + HGNC:1316, + HGNC_symbol:EML4 ; biolink:category biolink:Gene . OMIM:607443 a owl:Class ; rdfs:label "ELSPBP1" ; IAO:0000142 PMID:11144225 ; - oboInOwl:hasDbXref UMLS:C1422634 ; oboInOwl:hasExactSynonym "ELSPBP1", "epididymal sperm binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64100 ; - skos:exactMatch HGNC_symbol:ELSPBP1 ; + skos:exactMatch UMLS:C1422634, + HGNC:14417, + HGNC_symbol:ELSPBP1 ; biolink:category biolink:Gene . OMIM:607444 a owl:Class ; @@ -237589,40 +246229,43 @@ OMIM:607444 a owl:Class ; PMID:25991726 ; RO:0002525 CHR:9606chr7q11.21 ; RO:0003303 OMIM:609135 ; - oboInOwl:hasDbXref UMLS:C1426244 ; oboInOwl:hasExactSynonym "SBDS", "sbds gene", "sbds ribosome maturation factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51119 ; - skos:exactMatch HGNC_symbol:SBDS ; + skos:exactMatch UMLS:C1426244, + HGNC:19440, + HGNC_symbol:SBDS ; biolink:category biolink:Gene . OMIM:607445 a owl:Class ; rdfs:label "EIF4ENIF1" ; IAO:0000142 PMID:10856257 ; - oboInOwl:hasDbXref UMLS:C1424486 ; oboInOwl:hasExactSynonym "4e-t", "EIF4ENIF1", "eif4e-transporter", "eukaryotic translation initiation factor 4e nuclear import factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56478 ; - skos:exactMatch HGNC_symbol:EIF4ENIF1 ; + skos:exactMatch UMLS:C1424486, + HGNC:16687, + HGNC_symbol:EIF4ENIF1 ; biolink:category biolink:Gene . OMIM:607448 a owl:Class ; rdfs:label "NPFFR1" ; IAO:0000142 PMID:11024015, PMID:11025660 ; - oboInOwl:hasDbXref UMLS:C1826463 ; oboInOwl:hasExactSynonym "NPFFR1", "g protein-coupled receptor 147", "neuropeptide ff receptor 1", "neuropeptide ff1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64106 ; - skos:exactMatch HGNC_symbol:NPFFR1 ; + skos:exactMatch UMLS:C1826463, + HGNC:17425, + HGNC_symbol:NPFFR1 ; biolink:category biolink:Gene . OMIM:607449 a owl:Class ; @@ -237631,7 +246274,6 @@ OMIM:607449 a owl:Class ; PMID:10851242, PMID:11024015, PMID:17503329 ; - oboInOwl:hasDbXref UMLS:C1843897 ; oboInOwl:hasExactSynonym "NPFFR2", "g protein-coupled receptor 74", "neuropeptide ff receptor 2", @@ -237639,7 +246281,9 @@ OMIM:607449 a owl:Class ; "neuropeptide g protein-coupled receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10886 ; - skos:exactMatch HGNC_symbol:NPFFR2 ; + skos:exactMatch UMLS:C1843897, + HGNC:4525, + HGNC_symbol:NPFFR2 ; biolink:category biolink:Gene . OMIM:607450 a owl:Class ; @@ -237647,25 +246291,26 @@ OMIM:607450 a owl:Class ; IAO:0000142 PMID:12373648, PMID:16917092, PMID:20864495 ; - oboInOwl:hasDbXref UMLS:C1843896 ; oboInOwl:hasExactSynonym "ARVD8", "arrhythmogenic right ventricular cardiomyopathy 8", "arrhythmogenic right ventricular dysplasia, familial, 8" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1843896 ; biolink:category biolink:Disease . OMIM:607451 a owl:Class ; rdfs:label "GMEB2" ; IAO:0000142 PMID:10523663, PMID:10574462 ; - oboInOwl:hasDbXref UMLS:C1415131 ; oboInOwl:hasExactSynonym "GMEB2", "glucocorticoid modulatory element-binding protein 2", "kiaa1269", "parvovirus initiation factor, p79 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26205 ; - skos:exactMatch HGNC_symbol:GMEB2 ; + skos:exactMatch UMLS:C1415131, + HGNC:4371, + HGNC_symbol:GMEB2 ; biolink:category biolink:Gene . OMIM:607452 a owl:Class ; @@ -237674,26 +246319,28 @@ OMIM:607452 a owl:Class ; PMID:11414770, PMID:14530254, PMID:20562859 ; - oboInOwl:hasDbXref UMLS:C1421924 ; oboInOwl:hasExactSynonym "GABARAPL2", "gaba-a receptor-associated protein-like protein 2", "gate16, bovine, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11345 ; - skos:exactMatch HGNC_symbol:GABARAPL2 ; + skos:exactMatch UMLS:C1421924, + HGNC:13291, + HGNC_symbol:GABARAPL2 ; biolink:category biolink:Gene . OMIM:607455 a owl:Class ; rdfs:label "ZFAND3" ; IAO:0000142 PMID:8703127 ; - oboInOwl:hasDbXref UMLS:C1823943 ; oboInOwl:hasExactSynonym "ZFAND3", "an1-type zinc finger domain-containing protein 3", "testis-expressed gene 27", "zinc finger an1 domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60685 ; - skos:exactMatch HGNC_symbol:ZFAND3 ; + skos:exactMatch UMLS:C1823943, + HGNC:18019, + HGNC_symbol:ZFAND3 ; biolink:category biolink:Gene . OMIM:607456 a owl:Class ; @@ -237706,7 +246353,6 @@ OMIM:607456 a owl:Class ; PMID:25741868, PMID:27535533, PMID:8703127 ; - oboInOwl:hasDbXref UMLS:C1413427 ; oboInOwl:hasExactSynonym "UTP4", "cirhin", "kiaa1988", @@ -237715,7 +246361,9 @@ OMIM:607456 a owl:Class ; "utp4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84916 ; - skos:exactMatch HGNC_symbol:UTP4 ; + skos:exactMatch UMLS:C1413427, + HGNC:1983, + HGNC_symbol:UTP4 ; biolink:category biolink:Gene . OMIM:607460 a owl:Class ; @@ -237725,13 +246373,14 @@ OMIM:607460 a owl:Class ; PMID:12436198, PMID:8999922, PMID:9074642 ; - oboInOwl:hasDbXref UMLS:C1425028 ; oboInOwl:hasExactSynonym "PLA1A", "phosphatidylserine-specific phospholipase a1", "phosphatidylserine-specific phospholipase a1-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51365 ; - skos:exactMatch HGNC_symbol:PLA1A ; + skos:exactMatch UMLS:C1425028, + HGNC:17661, + HGNC_symbol:PLA1A ; biolink:category biolink:Gene . OMIM:607461 a owl:Class ; @@ -237746,12 +246395,13 @@ OMIM:607461 a owl:Class ; PMID:21280149 ; RO:0002525 CHR:9606chr18q21.1 ; RO:0003303 OMIM:607326 ; - oboInOwl:hasDbXref UMLS:C1539322 ; oboInOwl:hasExactSynonym "DYM", "dymeclin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54808 ; - skos:exactMatch HGNC_symbol:DYM ; + skos:exactMatch UMLS:C1539322, + HGNC:21317, + HGNC_symbol:DYM ; biolink:category biolink:Gene . OMIM:607462 a owl:Class ; @@ -237789,13 +246439,14 @@ OMIM:607462 a owl:Class ; PMID:9949204 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:125370 ; - oboInOwl:hasDbXref UMLS:C1540211 ; oboInOwl:hasExactSynonym "ATN1", "atrophin 1", "drpla gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1822 ; - skos:exactMatch HGNC_symbol:ATN1 ; + skos:exactMatch UMLS:C1540211, + HGNC:3033, + HGNC_symbol:ATN1 ; biolink:category biolink:Gene . OMIM:607463 a owl:Class ; @@ -237805,7 +246456,6 @@ OMIM:607463 a owl:Class ; PMID:15489900, PMID:15661756, PMID:16964264 ; - oboInOwl:hasDbXref UMLS:C1538712 ; oboInOwl:hasExactSynonym "PPP1R13L", "inhibitory member of the aspp family", "nf-kappa-b-interacting protein 1", @@ -237813,7 +246463,9 @@ OMIM:607463 a owl:Class ; "rela-associated inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10848 ; - skos:exactMatch HGNC_symbol:PPP1R13L ; + skos:exactMatch UMLS:C1538712, + HGNC:18838, + HGNC_symbol:PPP1R13L ; biolink:category biolink:Gene . OMIM:607465 a owl:Class ; @@ -237826,36 +246478,39 @@ OMIM:607465 a owl:Class ; PMID:9545404 ; RO:0002525 CHR:9606chr15q15.2 ; RO:0003303 OMIM:224120 ; - oboInOwl:hasDbXref UMLS:C1413248 ; oboInOwl:hasExactSynonym "CDAN1", "codanin 1", "discs lost, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146059 ; - skos:exactMatch HGNC_symbol:CDAN1 ; + skos:exactMatch UMLS:C1413248, + HGNC:1713, + HGNC_symbol:CDAN1 ; biolink:category biolink:Gene . OMIM:607466 a owl:Class ; rdfs:label "RAB2B" ; IAO:0000142 PMID:12376746 ; - oboInOwl:hasDbXref UMLS:C1426805 ; oboInOwl:hasExactSynonym "RAB2B", "ras-associated protein rab2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84932 ; - skos:exactMatch HGNC_symbol:RAB2B ; + skos:exactMatch UMLS:C1426805, + HGNC:20246, + HGNC_symbol:RAB2B ; biolink:category biolink:Gene . OMIM:607467 a owl:Class ; rdfs:label "CLECL1" ; IAO:0000142 PMID:12421943 ; - oboInOwl:hasDbXref UMLS:C1843833 ; oboInOwl:hasExactSynonym "CLECL1", "c-type lectin-like 1", "dendritic cell-associated lectin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160365 ; - skos:exactMatch HGNC_symbol:CLECL1 ; + skos:exactMatch UMLS:C1843833, + HGNC:24462, + HGNC_symbol:CLECL1 ; biolink:category biolink:Gene . OMIM:607468 a owl:Class ; @@ -237868,19 +246523,19 @@ OMIM:607468 a owl:Class ; PMID:27123486 ; RO:0002525 CHR:9606chr1p21.2 ; RO:0003303 OMIM:616939 ; - oboInOwl:hasDbXref UMLS:C1415269 ; oboInOwl:hasExactSynonym "GPR88", "g protein-coupled receptor 88", "striatum-specific g protein-coupled receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54112 ; - skos:exactMatch HGNC_symbol:GPR88 ; + skos:exactMatch UMLS:C1415269, + HGNC:4539, + HGNC_symbol:GPR88 ; biolink:category biolink:Gene . OMIM:607469 a owl:Class ; rdfs:label "NAAA" ; IAO:0000142 PMID:10610717 ; - oboInOwl:hasDbXref UMLS:C1412574 ; oboInOwl:hasExactSynonym "NAAA", "acid ceramidase-like protein", "asah-like protein", @@ -237888,7 +246543,9 @@ OMIM:607469 a owl:Class ; "n-acylsphingosine amidohydrolase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27163 ; - skos:exactMatch HGNC_symbol:NAAA ; + skos:exactMatch UMLS:C1412574, + HGNC:736, + HGNC_symbol:NAAA ; biolink:category biolink:Gene . OMIM:607470 a owl:Class ; @@ -237897,24 +246554,26 @@ OMIM:607470 a owl:Class ; PMID:16617102 ; RO:0002525 CHR:9606chr17q23.2 ; RO:0003303 OMIM:619641 ; - oboInOwl:hasDbXref UMLS:C1332389 ; oboInOwl:hasExactSynonym "BCAS3", "bcas3 microtubule-associated cell migration factor", "breast carcinoma amplified sequence 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54828 ; - skos:exactMatch HGNC_symbol:BCAS3 ; + skos:exactMatch UMLS:C1332389, + HGNC:14347, + HGNC_symbol:BCAS3 ; biolink:category biolink:Gene . OMIM:607471 a owl:Class ; rdfs:label "BCAS4" ; IAO:0000142 PMID:12378525 ; - oboInOwl:hasDbXref UMLS:C1332390 ; oboInOwl:hasExactSynonym "BCAS4", "breast carcinoma amplified sequence 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55653 ; - skos:exactMatch HGNC_symbol:BCAS4 ; + skos:exactMatch UMLS:C1332390, + HGNC:14367, + HGNC_symbol:BCAS4 ; biolink:category biolink:Gene . OMIM:607472 a owl:Class ; @@ -237928,8 +246587,6 @@ OMIM:607472 a owl:Class ; PMID:31695197 ; RO:0002525 CHR:9606chr10p12.1 ; RO:0003303 OMIM:617302 ; - oboInOwl:hasDbXref UMLS:C1421554, - UMLS:C4310628 ; oboInOwl:hasExactSynonym "YME1L1", "mitochondrial escape 1-like 1", "presenilin-associated metalloprotease", @@ -237937,7 +246594,10 @@ OMIM:607472 a owl:Class ; "yme1l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10730 ; - skos:exactMatch HGNC_symbol:YME1L1 ; + skos:exactMatch UMLS:C1421554, + UMLS:C4310628, + HGNC:12843, + HGNC_symbol:YME1L1 ; biolink:category biolink:Gene . OMIM:607473 a owl:Class ; @@ -237945,10 +246605,10 @@ OMIM:607473 a owl:Class ; IAO:0000142 PMID:11154138, PMID:12384421, PMID:14765194 ; - oboInOwl:hasDbXref UMLS:C1843832 ; oboInOwl:hasExactSynonym "VKCFD2", "vitamin k-dependent clotting factors, combined deficiency of, 2" ; rdfs:subClassOf OMIMPS:277450 ; + skos:exactMatch UMLS:C1843832 ; biolink:category biolink:Disease . OMIM:607474 a owl:Class ; @@ -237971,13 +246631,14 @@ OMIM:607474 a owl:Class ; PMID:9674916 ; RO:0002525 CHR:9606chr3q13.33 ; RO:0003303 OMIM:203500 ; - oboInOwl:hasDbXref UMLS:C1415533 ; oboInOwl:hasExactSynonym "HGD", "homogentisate 1,2-dioxygenase", "homogentisic acid oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3081 ; - skos:exactMatch HGNC_symbol:HGD ; + skos:exactMatch UMLS:C1415533, + HGNC:4892, + HGNC_symbol:HGD ; biolink:category biolink:Gene . OMIM:607475 a owl:Class ; @@ -237985,30 +246646,31 @@ OMIM:607475 a owl:Class ; IAO:0000142 PMID:10102298, PMID:11176989, PMID:11449319 ; - oboInOwl:hasDbXref UMLS:C1843816, - ORPHA:85128 ; oboInOwl:hasExactSynonym "bothnia retinal dystrophy", "vasterbotten dystrophy" ; + skos:exactMatch UMLS:C1843816, + ORPHA:85128 ; biolink:category biolink:Disease . OMIM:607476 a owl:Class ; rdfs:label "newfoundland rod-cone dystrophy" ; IAO:0000142 PMID:11868161, PMID:3377008 ; - oboInOwl:hasDbXref UMLS:C1843815 ; oboInOwl:hasExactSynonym "NFRCD", "newfoundland rod-cone dystrophy" ; + skos:exactMatch UMLS:C1843815 ; biolink:category biolink:Disease . OMIM:607477 a owl:Class ; rdfs:label "GTSE1" ; IAO:0000142 PMID:10974554 ; - oboInOwl:hasDbXref UMLS:C1422149 ; oboInOwl:hasExactSynonym "GTSE1", "g2- and s-phase expressed gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51512 ; - skos:exactMatch HGNC_symbol:GTSE1 ; + skos:exactMatch UMLS:C1422149, + HGNC:13698, + HGNC_symbol:GTSE1 ; biolink:category biolink:Gene . OMIM:607478 a owl:Class ; @@ -238028,13 +246690,14 @@ OMIM:607478 a owl:Class ; PMID:21441904 ; RO:0002525 CHR:9606chr12q21.1 ; RO:0003303 OMIM:608516 ; - oboInOwl:hasDbXref UMLS:C1427080 ; oboInOwl:hasExactSynonym "TPH2", "tryptophan hydroxylase 2", "tryptophan hydroxylase, neuronal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121278 ; - skos:exactMatch HGNC_symbol:TPH2 ; + skos:exactMatch UMLS:C1427080, + HGNC:20692, + HGNC_symbol:TPH2 ; biolink:category biolink:Gene . OMIM:607479 a owl:Class ; @@ -238045,12 +246708,13 @@ OMIM:607479 a owl:Class ; PMID:22512811 ; RO:0002525 CHR:9606chr18p11.22 ; RO:0003303 OMIM:605389 ; - oboInOwl:hasDbXref UMLS:C1423681 ; oboInOwl:hasExactSynonym "APCDD1", "apc downregulated 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147495 ; - skos:exactMatch HGNC_symbol:APCDD1 ; + skos:exactMatch UMLS:C1423681, + HGNC:15718, + HGNC_symbol:APCDD1 ; biolink:category biolink:Gene . OMIM:607480 a owl:Class ; @@ -238063,13 +246727,14 @@ OMIM:607481 a owl:Class ; PMID:15523652 ; RO:0002525 CHR:9606chr4q31.21 ; RO:0003303 OMIM:251100 ; - oboInOwl:hasDbXref UMLS:C1425842 ; oboInOwl:hasExactSynonym "MMAA", "metabolism of cobalamin associated a", "mmaa gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166785 ; - skos:exactMatch HGNC_symbol:MMAA ; + skos:exactMatch UMLS:C1425842, + HGNC:18871, + HGNC_symbol:MMAA ; biolink:category biolink:Gene . OMIM:607482 a owl:Class ; @@ -238077,10 +246742,10 @@ OMIM:607482 a owl:Class ; IAO:0000142 PMID:12507422, PMID:14567970, PMID:18505755 ; - oboInOwl:hasDbXref UMLS:C1843808 ; oboInOwl:hasExactSynonym "CMD1M", "cardiomyopathy, dilated, 1m" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1843808 ; biolink:category biolink:Disease . OMIM:607484 a owl:Class ; @@ -238097,7 +246762,6 @@ OMIM:607484 a owl:Class ; PMID:19520910, PMID:23439680, PMID:9482110 ; - oboInOwl:hasDbXref UMLS:C1335190 ; oboInOwl:hasExactSynonym "PARD6A", "par6", "par6 family cell polarity regulator alpha", @@ -238105,16 +246769,18 @@ OMIM:607484 a owl:Class ; "tax-interacting protein 40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50855 ; - skos:exactMatch HGNC_symbol:PARD6A ; + skos:exactMatch UMLS:C1335190, + HGNC:15943, + HGNC_symbol:PARD6A ; biolink:category biolink:Gene . OMIM:607486 a owl:Class ; rdfs:label "knops blood group system" ; IAO:0000142 PMID:11724985, PMID:9230440 ; - oboInOwl:hasDbXref UMLS:C1292327 ; oboInOwl:hasExactSynonym "KN", "knops blood group system" ; + skos:exactMatch UMLS:C1292327 ; biolink:category biolink:Disease . OMIM:607487 a owl:Class ; @@ -238123,24 +246789,25 @@ OMIM:607487 a owl:Class ; PMID:15582318, PMID:16352453, PMID:17097056 ; - oboInOwl:hasDbXref UMLS:C4225408 ; oboInOwl:hasExactSynonym "CMH25", "cardiomyopathy, familial hypertrophic, 25" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C4225408 ; biolink:category biolink:Disease . OMIM:607489 a owl:Class ; rdfs:label "CUL9" ; IAO:0000142 PMID:12526791, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1843785 ; oboInOwl:hasExactSynonym "CUL9", "cullin 9", "kiaa0708", "p53-associated parkin-like cytoplasmic protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23113 ; - skos:exactMatch HGNC_symbol:CUL9 ; + skos:exactMatch UMLS:C1843785, + HGNC:15982, + HGNC_symbol:CUL9 ; biolink:category biolink:Gene . OMIM:607490 a owl:Class ; @@ -238150,14 +246817,15 @@ OMIM:607490 a owl:Class ; PMID:31638601 ; RO:0002525 CHR:9606chr16q23.1 ; RO:0003303 OMIM:245450 ; - oboInOwl:hasDbXref UMLS:C1426348, - UMLS:C5193006 ; oboInOwl:hasExactSynonym "LDHD", "d-lactate dehydrogenase", "lactate dehydrogenase d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197257 ; - skos:exactMatch HGNC_symbol:LDHD ; + skos:exactMatch UMLS:C1426348, + UMLS:C5193006, + HGNC:19708, + HGNC_symbol:LDHD ; biolink:category biolink:Gene . OMIM:607491 a owl:Class ; @@ -238170,14 +246838,15 @@ OMIM:607491 a owl:Class ; PMID:8724849 ; RO:0002525 CHR:9606chr20q11.21 ; RO:0003303 OMIM:615327 ; - oboInOwl:hasDbXref UMLS:C1423114 ; oboInOwl:hasExactSynonym "POFUT1", "kiaa0180", "ofut1", "protein o-fucosyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23509 ; - skos:exactMatch HGNC_symbol:POFUT1 ; + skos:exactMatch UMLS:C1423114, + HGNC:14988, + HGNC_symbol:POFUT1 ; biolink:category biolink:Gene . OMIM:607492 a owl:Class ; @@ -238192,13 +246861,14 @@ OMIM:607492 a owl:Class ; PMID:9695949 ; RO:0002525 CHR:9606chr11q13.1-q13.2 ; RO:0003303 OMIM:615009 ; - oboInOwl:hasDbXref UMLS:C1538563, - UMLS:C3554343 ; oboInOwl:hasExactSynonym "PACS1", "phosphofurin acidic cluster sorting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55690 ; - skos:exactMatch HGNC_symbol:PACS1 ; + skos:exactMatch UMLS:C1538563, + UMLS:C3554343, + HGNC:30032, + HGNC_symbol:PACS1 ; biolink:category biolink:Gene . OMIM:607493 a owl:Class ; @@ -238206,24 +246876,26 @@ OMIM:607493 a owl:Class ; IAO:0000142 PMID:12080476, PMID:14966270, PMID:16387653 ; - oboInOwl:hasDbXref UMLS:C1422775 ; oboInOwl:hasExactSynonym "ING3", "inhibitor of growth 3", "p47ing3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54556 ; - skos:exactMatch HGNC_symbol:ING3 ; + skos:exactMatch UMLS:C1422775, + HGNC:14587, + HGNC_symbol:ING3 ; biolink:category biolink:Gene . OMIM:607494 a owl:Class ; rdfs:label "INPP4B" ; IAO:0000142 PMID:9295334 ; - oboInOwl:hasDbXref UMLS:C1416443 ; oboInOwl:hasExactSynonym "INPP4B", "inositol polyphosphate-4-phosphatase, iia ii, 105-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8821 ; - skos:exactMatch HGNC_symbol:INPP4B ; + skos:exactMatch UMLS:C1416443, + HGNC:6075, + HGNC_symbol:INPP4B ; biolink:category biolink:Gene . OMIM:607495 a owl:Class ; @@ -238233,14 +246905,15 @@ OMIM:607495 a owl:Class ; OMIM:607496 a owl:Class ; rdfs:label "NOSTRIN" ; IAO:0000142 PMID:12446846 ; - oboInOwl:hasDbXref UMLS:C1426772 ; oboInOwl:hasExactSynonym "NOSTRIN", "endothelial nitric oxide synthase traffic inducer", "enos traffic inducer", "nitric oxide synthase trafficker" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115677 ; - skos:exactMatch HGNC_symbol:NOSTRIN ; + skos:exactMatch UMLS:C1426772, + HGNC:20203, + HGNC_symbol:NOSTRIN ; biolink:category biolink:Gene . OMIM:607497 a owl:Class ; @@ -238248,7 +246921,6 @@ OMIM:607497 a owl:Class ; IAO:0000142 PMID:11853319, PMID:12383500, PMID:12522689 ; - oboInOwl:hasDbXref UMLS:C1412717 ; oboInOwl:hasExactSynonym "B3GAT2", "beta-1,3-glucuronyltransferase 2", "glucuronosyltransferase s", @@ -238256,7 +246928,9 @@ OMIM:607497 a owl:Class ; "udp-glucuronyltransferase s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135152 ; - skos:exactMatch HGNC_symbol:B3GAT2 ; + skos:exactMatch UMLS:C1412717, + HGNC:922, + HGNC_symbol:B3GAT2 ; biolink:category biolink:Gene . OMIM:607500 a owl:Class ; @@ -238268,20 +246942,20 @@ OMIM:607502 a owl:Class ; IAO:0000142 PMID:12372301, PMID:19184110, PMID:20799323 ; - oboInOwl:hasDbXref UMLS:C1426351 ; oboInOwl:hasExactSynonym "DISP1", "dispa", "dispatched rnd transporter family, member 1", "dispatched, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84976 ; - skos:exactMatch HGNC_symbol:DISP1 ; + skos:exactMatch UMLS:C1426351, + HGNC:19711, + HGNC_symbol:DISP1 ; biolink:category biolink:Gene . OMIM:607503 a owl:Class ; rdfs:label "DISP2" ; IAO:0000142 PMID:12372301 ; - oboInOwl:hasDbXref UMLS:C1426352 ; oboInOwl:hasExactSynonym "DISP2", "dispatched rnd transporter family, member 2", "dispatched, drosophila, homolog of, 2", @@ -238289,17 +246963,19 @@ OMIM:607503 a owl:Class ; "kiaa1742" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85455 ; - skos:exactMatch HGNC_symbol:DISP2 ; + skos:exactMatch UMLS:C1426352, + HGNC:19712, + HGNC_symbol:DISP2 ; biolink:category biolink:Gene . OMIM:607504 a owl:Class ; rdfs:label "headache associated with sexual activity" ; IAO:0000142 PMID:14504323, PMID:3778248 ; - oboInOwl:hasDbXref UMLS:C0393754 ; oboInOwl:hasExactSynonym "HSA", "benign sexual headache", - "headache associated with sexual activity" . + "headache associated with sexual activity" ; + skos:exactMatch UMLS:C0393754 . OMIM:607505 a owl:Class ; rdfs:label "PASK" ; @@ -238308,7 +246984,6 @@ OMIM:607505 a owl:Class ; PMID:11688972, PMID:16275910, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1424862 ; oboInOwl:hasExactSynonym "PASK", "kiaa0135", "pas domain-containing serine/threonine kinase", @@ -238316,7 +246991,9 @@ OMIM:607505 a owl:Class ; "paskin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23178 ; - skos:exactMatch HGNC_symbol:PASK ; + skos:exactMatch UMLS:C1424862, + HGNC:17270, + HGNC_symbol:PASK ; biolink:category biolink:Gene . OMIM:607506 a owl:Class ; @@ -238324,35 +247001,38 @@ OMIM:607506 a owl:Class ; IAO:0000142 PMID:11741898, PMID:11779638, PMID:11867212 ; - oboInOwl:hasDbXref UMLS:C1423037 ; oboInOwl:hasExactSynonym "ADAMTS14", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140766 ; - skos:exactMatch HGNC_symbol:ADAMTS14 ; + skos:exactMatch UMLS:C1423037, + HGNC:14899, + HGNC_symbol:ADAMTS14 ; biolink:category biolink:Gene . OMIM:607509 a owl:Class ; rdfs:label "ADAMTS15" ; IAO:0000142 PMID:11867212 ; - oboInOwl:hasDbXref UMLS:C1424173 ; oboInOwl:hasExactSynonym "ADAMTS15", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170689 ; - skos:exactMatch HGNC_symbol:ADAMTS15 ; + skos:exactMatch UMLS:C1424173, + HGNC:16305, + HGNC_symbol:ADAMTS15 ; biolink:category biolink:Gene . OMIM:607510 a owl:Class ; rdfs:label "ADAMTS16" ; IAO:0000142 PMID:11867212, PMID:19423552 ; - oboInOwl:hasDbXref UMLS:C1424747 ; oboInOwl:hasExactSynonym "ADAMTS16", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170690 ; - skos:exactMatch HGNC_symbol:ADAMTS16 ; + skos:exactMatch UMLS:C1424747, + HGNC:17108, + HGNC_symbol:ADAMTS16 ; biolink:category biolink:Gene . OMIM:607511 a owl:Class ; @@ -238363,12 +247043,13 @@ OMIM:607511 a owl:Class ; PMID:24940034 ; RO:0002525 CHR:9606chr15q26.3 ; RO:0003303 OMIM:613195 ; - oboInOwl:hasDbXref UMLS:C1424748 ; oboInOwl:hasExactSynonym "ADAMTS17", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170691 ; - skos:exactMatch HGNC_symbol:ADAMTS17 ; + skos:exactMatch UMLS:C1424748, + HGNC:17109, + HGNC_symbol:ADAMTS17 ; biolink:category biolink:Gene . OMIM:607512 a owl:Class ; @@ -238380,59 +247061,64 @@ OMIM:607512 a owl:Class ; PMID:23818446 ; RO:0002525 CHR:9606chr16q23.1 ; RO:0003303 OMIM:615458 ; - oboInOwl:hasDbXref UMLS:C1424749 ; oboInOwl:hasExactSynonym "ADAMTS18", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170692 ; - skos:exactMatch HGNC_symbol:ADAMTS18 ; + skos:exactMatch UMLS:C1424749, + HGNC:17110, + HGNC_symbol:ADAMTS18 ; biolink:category biolink:Gene . OMIM:607513 a owl:Class ; rdfs:label "ADAMTS19" ; IAO:0000142 PMID:11867212 ; - oboInOwl:hasDbXref UMLS:C1424750 ; oboInOwl:hasExactSynonym "ADAMTS19", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171019 ; - skos:exactMatch HGNC_symbol:ADAMTS19 ; + skos:exactMatch UMLS:C1424750, + HGNC:17111, + HGNC_symbol:ADAMTS19 ; biolink:category biolink:Gene . OMIM:607515 a owl:Class ; rdfs:label "PLAC8" ; IAO:0000142 PMID:12384430, PMID:12758124 ; - oboInOwl:hasDbXref UMLS:C1426119 ; oboInOwl:hasExactSynonym "PLAC8", "placenta-specific gene 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51316 ; - skos:exactMatch HGNC_symbol:PLAC8 ; + skos:exactMatch UMLS:C1426119, + HGNC:19254, + HGNC_symbol:PLAC8 ; biolink:category biolink:Gene . OMIM:607517 a owl:Class ; rdfs:label "LILRA4" ; IAO:0000142 PMID:12384430, PMID:15094202 ; - oboInOwl:hasDbXref UMLS:C1843764 ; oboInOwl:hasExactSynonym "LILRA4", "immunoglobulin-like transcript 7", "leukocyte immunoglobulin-like receptor, subfamily a, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23547 ; - skos:exactMatch HGNC_symbol:LILRA4 ; + skos:exactMatch UMLS:C1843764, + HGNC:15503, + HGNC_symbol:LILRA4 ; biolink:category biolink:Gene . OMIM:607518 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12384430 ; - oboInOwl:hasDbXref UMLS:C1428894 ; oboInOwl:hasExactSynonym "mapa", "monocyte and plasmacytoid activated molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126364 ; - skos:exactMatch HGNC_symbol:LRRC25 ; + skos:exactMatch UMLS:C1428894, + HGNC:29806, + HGNC_symbol:LRRC25 ; biolink:category biolink:Gene . OMIM:607519 a owl:Class ; @@ -238440,7 +247126,6 @@ OMIM:607519 a owl:Class ; IAO:0000142 PMID:10477748, PMID:10644454, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1538582 ; oboInOwl:hasExactSynonym "PARP4", "adp-ribosyltransferase-like 1", "kiaa0177", @@ -238449,18 +247134,21 @@ OMIM:607519 a owl:Class ; "vault poly(adp-ribose) polymerase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143 ; - skos:exactMatch HGNC_symbol:PARP4 ; + skos:exactMatch UMLS:C1538582, + HGNC:271, + HGNC_symbol:PARP4 ; biolink:category biolink:Gene . OMIM:607520 a owl:Class ; rdfs:label "ZAR1" ; IAO:0000142 PMID:12539046 ; - oboInOwl:hasDbXref UMLS:C1426934 ; oboInOwl:hasExactSynonym "ZAR1", "zygote arrest 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:326340 ; - skos:exactMatch HGNC_symbol:ZAR1 ; + skos:exactMatch UMLS:C1426934, + HGNC:20436, + HGNC_symbol:ZAR1 ; biolink:category biolink:Gene . OMIM:607521 a owl:Class ; @@ -238473,8 +247161,6 @@ OMIM:607521 a owl:Class ; PMID:28296950 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:614074 ; - oboInOwl:hasDbXref UMLS:C1424692, - UMLS:C3888004 ; oboInOwl:hasExactSynonym "HPS5", "alpha-integrin-binding protein 63", "hps5 biogenesis of lysosomal organelles complex 2, subunit 2", @@ -238483,7 +247169,10 @@ OMIM:607521 a owl:Class ; "ruby-eye 2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11234 ; - skos:exactMatch HGNC_symbol:HPS5 ; + skos:exactMatch UMLS:C1424692, + UMLS:C3888004, + HGNC:17022, + HGNC_symbol:HPS5 ; biolink:category biolink:Gene . OMIM:607522 a owl:Class ; @@ -238494,15 +247183,16 @@ OMIM:607522 a owl:Class ; PMID:27225848 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:614075 ; - oboInOwl:hasDbXref UMLS:C1425796, - UMLS:C3888007 ; oboInOwl:hasExactSynonym "HPS6", "hps6 biogenesis of lysosomal organelles complex 2, subunit 3", "hps6 gene", "ruby-eye, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79803 ; - skos:exactMatch HGNC_symbol:HPS6 ; + skos:exactMatch UMLS:C1425796, + UMLS:C3888007, + HGNC:18817, + HGNC_symbol:HPS6 ; biolink:category biolink:Gene . OMIM:607523 a owl:Class ; @@ -238511,11 +247201,11 @@ OMIM:607523 a owl:Class ; PMID:11843659, PMID:7577595, PMID:9856844 ; - oboInOwl:hasDbXref UMLS:C1843761 ; oboInOwl:hasExactSynonym "NDNC8", "nail disorder, nonsyndromic congenital, 8", "toenail dystrophy, isolated" ; rdfs:subClassOf OMIMPS:161050 ; + skos:exactMatch UMLS:C1843761 ; biolink:category biolink:Disease . OMIM:607524 a owl:Class ; @@ -238523,7 +247213,6 @@ OMIM:607524 a owl:Class ; IAO:0000142 PMID:11130983, PMID:11716498, PMID:8938444 ; - oboInOwl:hasDbXref UMLS:C1425275 ; oboInOwl:hasExactSynonym "RNF39", "hzf", "hzfw", @@ -238531,7 +247220,9 @@ OMIM:607524 a owl:Class ; "ring finger protein 39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80352 ; - skos:exactMatch HGNC_symbol:RNF39 ; + skos:exactMatch UMLS:C1425275, + HGNC:18064, + HGNC_symbol:RNF39 ; biolink:category biolink:Gene . OMIM:607525 a owl:Class ; @@ -238539,14 +247230,15 @@ OMIM:607525 a owl:Class ; IAO:0000142 PMID:10662553, PMID:11130983, PMID:8938444 ; - oboInOwl:hasDbXref UMLS:C1421863 ; oboInOwl:hasExactSynonym "ZNRD1", "tctex6, mouse, homolog of", "tex6", "zinc ribbon domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30834 ; - skos:exactMatch HGNC_symbol:POLR1H ; + skos:exactMatch UMLS:C1421863, + HGNC:13182, + HGNC_symbol:POLR1H ; biolink:category biolink:Gene . OMIM:607526 a owl:Class ; @@ -238556,24 +247248,26 @@ OMIM:607526 a owl:Class ; PMID:8148381 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:617408 ; - oboInOwl:hasDbXref UMLS:C1419652 ; oboInOwl:hasExactSynonym "RPL27", "ribosomal protein l27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6155 ; - skos:exactMatch HGNC_symbol:RPL27 ; + skos:exactMatch UMLS:C1419652, + HGNC:10328, + HGNC_symbol:RPL27 ; biolink:category biolink:Gene . OMIM:607527 a owl:Class ; rdfs:label "PTBP3" ; IAO:0000142 PMID:10207106 ; - oboInOwl:hasDbXref UMLS:C1419599 ; oboInOwl:hasExactSynonym "PTBP3", "polypyrimidine tract binding protein 3", "regulator of differentiation 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9991 ; - skos:exactMatch HGNC_symbol:PTBP3 ; + skos:exactMatch UMLS:C1419599, + HGNC:10253, + HGNC_symbol:PTBP3 ; biolink:category biolink:Gene . OMIM:607528 a owl:Class ; @@ -238585,14 +247279,15 @@ OMIM:607528 a owl:Class ; PMID:30455415 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:618496 ; - oboInOwl:hasDbXref UMLS:C1425218 ; oboInOwl:hasExactSynonym "ROBO4", "magic roundabout", "roundabout guidance receptor 4", "roundabout, drosophila, homolog of, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54538 ; - skos:exactMatch HGNC_symbol:ROBO4 ; + skos:exactMatch UMLS:C1425218, + HGNC:17985, + HGNC_symbol:ROBO4 ; biolink:category biolink:Gene . OMIM:607529 a owl:Class ; @@ -238604,7 +247299,6 @@ OMIM:607529 a owl:Class ; PMID:9431993 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:617709 ; - oboInOwl:hasDbXref UMLS:C1419818 ; oboInOwl:hasExactSynonym "SARS1", "sars", "serrs", @@ -238612,7 +247306,9 @@ OMIM:607529 a owl:Class ; "seryl-trna synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6301 ; - skos:exactMatch HGNC_symbol:SARS1 ; + skos:exactMatch UMLS:C1419818, + HGNC:10537, + HGNC_symbol:SARS1 ; biolink:category biolink:Gene . OMIM:607530 a owl:Class ; @@ -238620,13 +247316,14 @@ OMIM:607530 a owl:Class ; IAO:0000142 PMID:12050232, PMID:7789268, PMID:9745033 ; - oboInOwl:hasDbXref UMLS:C1843760 ; oboInOwl:hasExactSynonym "HOXA11AS", "homeobox a11, antisense", "hoxa11s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221883 ; - skos:exactMatch HGNC_symbol:HOXA11-AS ; + skos:exactMatch UMLS:C1843760, + HGNC:24957, + HGNC_symbol:HOXA11-AS ; biolink:category biolink:Gene . OMIM:607531 a owl:Class ; @@ -238636,13 +247333,14 @@ OMIM:607531 a owl:Class ; PMID:11935316, PMID:31300511, PMID:9858544 ; - oboInOwl:hasDbXref UMLS:C1416658 ; oboInOwl:hasExactSynonym "KLF12", "ap2 repressor", "kruppel-like factor 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11278 ; - skos:exactMatch HGNC_symbol:KLF12 ; + skos:exactMatch UMLS:C1416658, + HGNC:6346, + HGNC_symbol:KLF12 ; biolink:category biolink:Gene . OMIM:607532 a owl:Class ; @@ -238654,14 +247352,15 @@ OMIM:607532 a owl:Class ; PMID:30858804 ; RO:0002525 CHR:9606chr13q21.33-q22.1 ; RO:0003303 OMIM:617767 ; - oboInOwl:hasDbXref UMLS:C1539032, - UMLS:C4540389 ; oboInOwl:hasExactSynonym "PIBF1", "pibf", "progesterone-induced blocking factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10464 ; - skos:exactMatch HGNC_symbol:PIBF1 ; + skos:exactMatch UMLS:C1539032, + UMLS:C4540389, + HGNC:23352, + HGNC_symbol:PIBF1 ; biolink:category biolink:Gene . OMIM:607533 a owl:Class ; @@ -238669,7 +247368,6 @@ OMIM:607533 a owl:Class ; IAO:0000142 PMID:10231032, PMID:11935316, PMID:20531386 ; - oboInOwl:hasDbXref UMLS:C1824940 ; oboInOwl:hasExactSynonym "DIS3", "dis3 homolog, exosome endoribonuclease and 3-prime-5-prime exoribonuclease", "dis3 mitotic control, s. cerevisiae, homolog of", @@ -238678,19 +247376,22 @@ OMIM:607533 a owl:Class ; "ribosomal rna-processing protein 44, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22894 ; - skos:exactMatch HGNC_symbol:DIS3 ; + skos:exactMatch UMLS:C1824940, + HGNC:20604, + HGNC_symbol:DIS3 ; biolink:category biolink:Gene . OMIM:607534 a owl:Class ; rdfs:label "YAF2" ; IAO:0000142 PMID:11953439, PMID:9016636 ; - oboInOwl:hasDbXref UMLS:C1424936 ; oboInOwl:hasExactSynonym "YAF2", "yy1-associated factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10138 ; - skos:exactMatch HGNC_symbol:YAF2 ; + skos:exactMatch UMLS:C1424936, + HGNC:17363, + HGNC_symbol:YAF2 ; biolink:category biolink:Gene . OMIM:607535 a owl:Class ; @@ -238698,13 +247399,14 @@ OMIM:607535 a owl:Class ; IAO:0000142 PMID:10369680, PMID:11953439, PMID:22269950 ; - oboInOwl:hasDbXref UMLS:C1419776 ; oboInOwl:hasExactSynonym "RYBP", "ring1- and yy1-binding protein", "yy1- and e4tf1/gabp-associated factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23429 ; - skos:exactMatch HGNC_symbol:RYBP ; + skos:exactMatch UMLS:C1419776, + HGNC:10480, + HGNC_symbol:RYBP ; biolink:category biolink:Gene . OMIM:607536 a owl:Class ; @@ -238722,8 +247424,6 @@ OMIM:607536 a owl:Class ; PMID:21331044, PMID:9734811 ; RO:0002525 CHR:9606chr19p13.11 ; - oboInOwl:hasDbXref UMLS:C1824798, - UMLS:C1843759 ; oboInOwl:hasExactSynonym "CRTC1", "creb-regulated transcription coactivator 1", "flj14027", @@ -238734,7 +247434,10 @@ OMIM:607536 a owl:Class ; "transducer of regulated creb 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23373 ; - skos:exactMatch HGNC_symbol:CRTC1 ; + skos:exactMatch UMLS:C1824798, + UMLS:C1843759, + HGNC:16062, + HGNC_symbol:CRTC1 ; biolink:category biolink:Gene . OMIM:607537 a owl:Class ; @@ -238747,8 +247450,6 @@ OMIM:607537 a owl:Class ; PMID:15961999, PMID:17551948 ; RO:0002525 CHR:9606chr11q21 ; - oboInOwl:hasDbXref UMLS:C1424132, - UMLS:C1843759 ; oboInOwl:hasExactSynonym "MAML2", "kiaa1819", "maml2/mect1 fusion gene", @@ -238757,7 +247458,10 @@ OMIM:607537 a owl:Class ; "mastermind-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84441 ; - skos:exactMatch HGNC_symbol:MAML2 ; + skos:exactMatch UMLS:C1424132, + UMLS:C1843759, + HGNC:16259, + HGNC_symbol:MAML2 ; biolink:category biolink:Gene . OMIM:607538 a owl:Class ; @@ -238772,14 +247476,15 @@ OMIM:607538 a owl:Class ; PMID:18331715, PMID:18469341, PMID:19668197 ; - oboInOwl:hasDbXref UMLS:C1425015 ; oboInOwl:hasExactSynonym "NDEL1", "endooligopeptidase a", "nude neurodevelopment protein 1-like 1", "nude-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81565 ; - skos:exactMatch HGNC_symbol:NDEL1 ; + skos:exactMatch UMLS:C1425015, + HGNC:17620, + HGNC_symbol:NDEL1 ; biolink:category biolink:Gene . OMIM:607539 a owl:Class ; @@ -238787,17 +247492,17 @@ OMIM:607539 a owl:Class ; IAO:0000142 PMID:10096595, PMID:12476460, PMID:27041388 ; - oboInOwl:hasDbXref UMLS:C1843758 ; oboInOwl:hasExactSynonym "CCSPD", "camptopolydactyly, disorganization iia", "camptosynpolydactyly, complex" ; + skos:exactMatch UMLS:C1843758 ; biolink:category biolink:Disease . OMIM:607540 a owl:Class ; rdfs:label "secretory diarrhea, myopathy, and deafness" ; IAO:0000142 PMID:12476446 ; - oboInOwl:hasDbXref UMLS:C1843757 ; - oboInOwl:hasExactSynonym "secretory diarrhea, myopathy, and deafness" . + oboInOwl:hasExactSynonym "secretory diarrhea, myopathy, and deafness" ; + skos:exactMatch UMLS:C1843757 . OMIM:607541 a owl:Class ; rdfs:label "corneal dystrophy, avellino iia" ; @@ -238815,14 +247520,14 @@ OMIM:607541 a owl:Class ; PMID:9054935, PMID:9727418, PMID:9838259 ; - oboInOwl:hasDbXref UMLS:C1275685, - ORPHA:98963 ; oboInOwl:hasExactSynonym "CDA", "acd", "avellino corneal dystrophy", "combined granular-lattice corneal dystrophy", "corneal dystrophy, avellino iia", "granular corneal dystrophy, iia 2" ; + skos:exactMatch UMLS:C1275685, + ORPHA:98963 ; biolink:category biolink:Disease . OMIM:607542 a owl:Class ; @@ -238909,7 +247614,6 @@ OMIM:607542 a owl:Class ; PMID:9950666 ; RO:0002525 CHR:9606chr11p15.5-p15.4 ; RO:0003303 OMIM:192500 ; - oboInOwl:hasDbXref UMLS:C1416612 ; oboInOwl:hasExactSynonym "KCNQ1", "kcna8", "kvlqt1", @@ -238917,15 +247621,17 @@ OMIM:607542 a owl:Class ; "potassium channel, voltage-gated, shaker-related subfamily, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3784 ; - skos:exactMatch HGNC_symbol:KCNQ1 ; + skos:exactMatch UMLS:C1416612, + HGNC:6294, + HGNC_symbol:KCNQ1 ; biolink:category biolink:Gene . OMIM:607543 a owl:Class ; rdfs:label "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" ; IAO:0000142 PMID:12503112 ; - oboInOwl:hasDbXref UMLS:C1843706 ; oboInOwl:hasExactSynonym "smd with bowed forearms and facial dysmorphism", - "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" . + "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" ; + skos:exactMatch UMLS:C1843706 . OMIM:607544 a owl:Class ; rdfs:label "LRPPRC" ; @@ -238941,14 +247647,15 @@ OMIM:607544 a owl:Class ; PMID:8012652 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:220111 ; - oboInOwl:hasDbXref UMLS:C1423677, - UMLS:C1857355 ; oboInOwl:hasExactSynonym "LRPPRC", "leucine-rich ppr motif-containing protein", "leucine-rich protein, 130-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10128 ; - skos:exactMatch HGNC_symbol:LRPPRC ; + skos:exactMatch UMLS:C1423677, + UMLS:C1857355, + HGNC:15714, + HGNC_symbol:LRPPRC ; biolink:category biolink:Gene . OMIM:607545 a owl:Class ; @@ -238958,14 +247665,15 @@ OMIM:607545 a owl:Class ; PMID:8663358 ; RO:0002525 CHR:9606chr4q32.3 ; RO:0003303 OMIM:616834 ; - oboInOwl:hasDbXref UMLS:C1419825 ; oboInOwl:hasExactSynonym "MSMO1", "erg25", "methylsterol monooxygenase 1", "sterol c4-methyloxidase-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6307 ; - skos:exactMatch HGNC_symbol:MSMO1 ; + skos:exactMatch UMLS:C1419825, + HGNC:10545, + HGNC_symbol:MSMO1 ; biolink:category biolink:Gene . OMIM:607546 a owl:Class ; @@ -238974,7 +247682,6 @@ OMIM:607546 a owl:Class ; PMID:11133863, PMID:12960329, PMID:15661892 ; - oboInOwl:hasDbXref UMLS:C1540290 ; oboInOwl:hasExactSynonym "CD200R1", "cd200 receptor 1", "cd200r", @@ -238982,36 +247689,39 @@ OMIM:607546 a owl:Class ; "ox2 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131450 ; - skos:exactMatch HGNC_symbol:CD200R1 ; + skos:exactMatch UMLS:C1540290, + HGNC:24235, + HGNC_symbol:CD200R1 ; biolink:category biolink:Gene . OMIM:607547 a owl:Class ; rdfs:label "RPL39L" ; IAO:0000142 PMID:12359333 ; - oboInOwl:hasDbXref UMLS:C1424740 ; oboInOwl:hasExactSynonym "RPL39L", "ribosomal protein l39-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116832 ; - skos:exactMatch HGNC_symbol:RPL39L ; + skos:exactMatch UMLS:C1424740, + HGNC:17094, + HGNC_symbol:RPL39L ; biolink:category biolink:Gene . OMIM:607548 a owl:Class ; rdfs:label "RSPH6A" ; IAO:0000142 PMID:11237735 ; - oboInOwl:hasDbXref UMLS:C1422503 ; oboInOwl:hasExactSynonym "RSPH6A", "radial spoke head 6 homolog a", "radial spokehead-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81492 ; - skos:exactMatch HGNC_symbol:RSPH6A ; + skos:exactMatch UMLS:C1422503, + HGNC:14241, + HGNC_symbol:RSPH6A ; biolink:category biolink:Gene . OMIM:607549 a owl:Class ; rdfs:label "POTED" ; IAO:0000142 PMID:12475935 ; - oboInOwl:hasDbXref UMLS:C1428279 ; oboInOwl:hasExactSynonym "POTED", "ankyrin repeat domain-containing protein 21", "pote ankyrin domain family, member d", @@ -239019,31 +247729,35 @@ OMIM:607549 a owl:Class ; "prostate-, ovary-, testis-, and placenta-expressed gene on chromosome 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:317754 ; - skos:exactMatch HGNC_symbol:POTED ; + skos:exactMatch UMLS:C1428279, + HGNC:23822, + HGNC_symbol:POTED ; biolink:category biolink:Gene . OMIM:607550 a owl:Class ; rdfs:label "SLC16A10" ; IAO:0000142 PMID:11827462 ; - oboInOwl:hasDbXref UMLS:C1424697 ; oboInOwl:hasExactSynonym "SLC16A10", "solute carrier family 16 (monocarboxylic acid transporter), member 10", "t-type amino acid transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117247 ; - skos:exactMatch HGNC_symbol:SLC16A10 ; + skos:exactMatch UMLS:C1424697, + HGNC:17027, + HGNC_symbol:SLC16A10 ; biolink:category biolink:Gene . OMIM:607551 a owl:Class ; rdfs:label "SDF2L1" ; IAO:0000142 PMID:11162531 ; - oboInOwl:hasDbXref UMLS:C1419905 ; oboInOwl:hasExactSynonym "SDF2L1", "sdf2-like 1", "stromal cell-derived factor 2-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23753 ; - skos:exactMatch HGNC_symbol:SDF2L1 ; + skos:exactMatch UMLS:C1419905, + HGNC:10676, + HGNC_symbol:SDF2L1 ; biolink:category biolink:Gene . OMIM:607552 a owl:Class ; @@ -239053,12 +247767,13 @@ OMIM:607552 a owl:Class ; OMIM:607553 a owl:Class ; rdfs:label "EPPK1" ; IAO:0000142 PMID:11278896 ; - oboInOwl:hasDbXref UMLS:C1423589 ; oboInOwl:hasExactSynonym "EPPK1", "epiplakin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83481 ; - skos:exactMatch HGNC_symbol:EPPK1 ; + skos:exactMatch UMLS:C1423589, + HGNC:15577, + HGNC_symbol:EPPK1 ; biolink:category biolink:Gene . OMIM:607554 a owl:Class ; @@ -239071,22 +247786,23 @@ OMIM:607554 a owl:Class ; PMID:23851063, PMID:24096004, PMID:9070470 ; - oboInOwl:hasDbXref UMLS:C1837014 ; oboInOwl:hasExactSynonym "ATFB3", "atrial fibrillation, familial, 3" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C1837014 ; biolink:category biolink:Disease . OMIM:607555 a owl:Class ; rdfs:label "TOR3A" ; IAO:0000142 PMID:11863361 ; - oboInOwl:hasDbXref UMLS:C1420864 ; oboInOwl:hasExactSynonym "TOR3A", "atp-dependent interferon-responsive protein", "torsin 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64222 ; - skos:exactMatch HGNC_symbol:TOR3A ; + skos:exactMatch UMLS:C1420864, + HGNC:11997, + HGNC_symbol:TOR3A ; biolink:category biolink:Gene . OMIM:607556 a owl:Class ; @@ -239117,14 +247833,15 @@ OMIM:607556 a owl:Class ; PMID:9674915 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:227260 ; - oboInOwl:hasDbXref UMLS:C1427070 ; oboInOwl:hasExactSynonym "TWIST2", "dermis-expressed protein 1, mouse, homolog of", "twist family bhlh transcription factor 2", "twist, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117581 ; - skos:exactMatch HGNC_symbol:TWIST2 ; + skos:exactMatch UMLS:C1427070, + HGNC:20670, + HGNC_symbol:TWIST2 ; biolink:category biolink:Gene . OMIM:607557 a owl:Class ; @@ -239136,14 +247853,15 @@ OMIM:607557 a owl:Class ; PMID:9323205 ; RO:0002525 CHR:9606chr12q23.1 ; RO:0003303 OMIM:605583 ; - oboInOwl:hasDbXref UMLS:C1426735 ; oboInOwl:hasExactSynonym "SLC17A8", "solute carrier family 17 (sodium-dependent phosphate cotransporter), member 8", "solute carrier family 17 (vesicular glutamate cotransporter), member 8", "vesicular glutamate transporter 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246213 ; - skos:exactMatch HGNC_symbol:SLC17A8 ; + skos:exactMatch UMLS:C1426735, + HGNC:20151, + HGNC_symbol:SLC17A8 ; biolink:category biolink:Gene . OMIM:607558 a owl:Class ; @@ -239153,7 +247871,6 @@ OMIM:607558 a owl:Class ; PMID:11444841, PMID:12757856, PMID:26266980 ; - oboInOwl:hasDbXref UMLS:C1419923 ; oboInOwl:hasExactSynonym "SEC14L2", "kiaa1186", "sec14, s. cerevisiae, homolog of, 2", @@ -239163,7 +247880,9 @@ OMIM:607558 a owl:Class ; "tocopherol-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23541 ; - skos:exactMatch HGNC_symbol:SEC14L2 ; + skos:exactMatch UMLS:C1419923, + HGNC:10699, + HGNC_symbol:SEC14L2 ; biolink:category biolink:Gene . OMIM:607559 a owl:Class ; @@ -239171,14 +247890,15 @@ OMIM:607559 a owl:Class ; IAO:0000142 PMID:12438443, PMID:12560552, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1426811 ; oboInOwl:hasExactSynonym "MGRN1", "kiaa0544", "mahoganoid, mouse, homolog of", "mahogunin, ring finger 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23295 ; - skos:exactMatch HGNC_symbol:MGRN1 ; + skos:exactMatch UMLS:C1426811, + HGNC:20254, + HGNC_symbol:MGRN1 ; biolink:category biolink:Gene . OMIM:607560 a owl:Class ; @@ -239192,14 +247912,15 @@ OMIM:607560 a owl:Class ; PMID:9857026 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:617523 ; - oboInOwl:hasDbXref UMLS:C1412528 ; oboInOwl:hasExactSynonym "ARHGEF2", "gefh1", "kiaa0651", "rho guanine nucleotide exchange factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9181 ; - skos:exactMatch HGNC_symbol:ARHGEF2 ; + skos:exactMatch UMLS:C1412528, + HGNC:682, + HGNC_symbol:ARHGEF2 ; biolink:category biolink:Gene . OMIM:607561 a owl:Class ; @@ -239232,12 +247953,13 @@ OMIM:607562 a owl:Class ; PMID:30578351 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:605606 ; - oboInOwl:hasDbXref UMLS:C1537403 ; oboInOwl:hasExactSynonym "IL23R", "interleukin 23 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149233 ; - skos:exactMatch HGNC_symbol:IL23R ; + skos:exactMatch UMLS:C1537403, + HGNC:19100, + HGNC_symbol:IL23R ; biolink:category biolink:Gene . OMIM:607563 a owl:Class ; @@ -239248,7 +247970,6 @@ OMIM:607563 a owl:Class ; PMID:15118123, PMID:21040852, PMID:21040853 ; - oboInOwl:hasDbXref UMLS:C1424492 ; oboInOwl:hasExactSynonym "SLC17A6", "differentiation-associated sodium-dependent inorganic phosphate cotransporter", "sodium-dependent inorganic phosphate cotransporter, differentiation-associated", @@ -239257,26 +247978,29 @@ OMIM:607563 a owl:Class ; "vesicular glutamate transporter 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57084 ; - skos:exactMatch HGNC_symbol:SLC17A6 ; + skos:exactMatch UMLS:C1424492, + HGNC:16703, + HGNC_symbol:SLC17A6 ; biolink:category biolink:Gene . OMIM:607564 a owl:Class ; rdfs:label "TRIM6" ; IAO:0000142 PMID:11331580 ; - oboInOwl:hasDbXref UMLS:C1424147 ; oboInOwl:hasExactSynonym "TRIM6", "tripartite motif-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117854 ; - skos:exactMatch HGNC_symbol:TRIM6 ; + skos:exactMatch UMLS:C1424147, + HGNC:16277, + HGNC_symbol:TRIM6 ; biolink:category biolink:Gene . OMIM:607565 a owl:Class ; rdfs:label "spastic paraplegia, ataxia, and mental retardation" ; IAO:0000142 PMID:11839840 ; - oboInOwl:hasDbXref UMLS:C1843661 ; oboInOwl:hasExactSynonym "spar", - "spastic paraplegia, ataxia, and mental retardation" . + "spastic paraplegia, ataxia, and mental retardation" ; + skos:exactMatch UMLS:C1843661 . OMIM:607566 a owl:Class ; rdfs:label "EPM2A" ; @@ -239304,7 +248028,6 @@ OMIM:607566 a owl:Class ; PMID:9931343 ; RO:0002525 CHR:9606chr6q24.3 ; RO:0003303 OMIM:254780 ; - oboInOwl:hasDbXref UMLS:C1414435 ; oboInOwl:hasExactSynonym "EPM2A", "epm2a glucan phosphatase, laforin", "epm2a, isoform B", @@ -239312,7 +248035,9 @@ OMIM:607566 a owl:Class ; "laforin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7957 ; - skos:exactMatch HGNC_symbol:EPM2A ; + skos:exactMatch UMLS:C1414435, + HGNC:3413, + HGNC_symbol:EPM2A ; biolink:category biolink:Gene . OMIM:607567 a owl:Class ; @@ -239320,14 +248045,15 @@ OMIM:607567 a owl:Class ; IAO:0000142 PMID:11152659, PMID:12019210, PMID:16115881 ; - oboInOwl:hasDbXref UMLS:C1425220 ; oboInOwl:hasExactSynonym "OLFM3", "noelin 3", "olfactomedin 3", "optimedin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118427 ; - skos:exactMatch HGNC_symbol:OLFM3 ; + skos:exactMatch UMLS:C1425220, + HGNC:17990, + HGNC_symbol:OLFM3 ; biolink:category biolink:Gene . OMIM:607568 a owl:Class ; @@ -239338,14 +248064,15 @@ OMIM:607568 a owl:Class ; PMID:24813872 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:251110 ; - oboInOwl:hasDbXref UMLS:C1426171 ; oboInOwl:hasExactSynonym "MMAB", "cob(i)alamin adenosyltransferase", "metabolism of cobalamin associated B", "mmab gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:326625 ; - skos:exactMatch HGNC_symbol:MMAB ; + skos:exactMatch UMLS:C1426171, + HGNC:19331, + HGNC_symbol:MMAB ; biolink:category biolink:Gene . OMIM:607569 a owl:Class ; @@ -239355,14 +248082,15 @@ OMIM:607569 a owl:Class ; OMIM:607570 a owl:Class ; rdfs:label "DHX40" ; IAO:0000142 PMID:12522690 ; - oboInOwl:hasDbXref UMLS:C1425244 ; oboInOwl:hasExactSynonym "DHX40", "ddx40", "deah-box helicase 40", "deah-box polypeptide 40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79665 ; - skos:exactMatch HGNC_symbol:DHX40 ; + skos:exactMatch UMLS:C1425244, + HGNC:18018, + HGNC_symbol:DHX40 ; biolink:category biolink:Gene . OMIM:607571 a owl:Class ; @@ -239374,14 +248102,15 @@ OMIM:607571 a owl:Class ; PMID:29517768 ; RO:0002525 CHR:9606chr14q13.3 ; RO:0003303 OMIM:618811 ; - oboInOwl:hasDbXref UMLS:C1422630, - UMLS:C5394140 ; oboInOwl:hasExactSynonym "SLC25A21", "oxodicarboxylate carrier", "solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89874 ; - skos:exactMatch HGNC_symbol:SLC25A21 ; + skos:exactMatch UMLS:C1422630, + UMLS:C5394140, + HGNC:14411, + HGNC_symbol:SLC25A21 ; biolink:category biolink:Gene . OMIM:607572 a owl:Class ; @@ -239393,16 +248122,15 @@ OMIM:607572 a owl:Class ; PMID:16391553, PMID:23052943 ; RO:0002525 CHR:9606chr6q25 ; - oboInOwl:hasDbXref UMLS:C1843632 ; oboInOwl:hasExactSynonym "LPRS2", "leprosy, susceptibility to, 2" ; + skos:exactMatch UMLS:C1843632 ; biolink:category biolink:Disease . OMIM:607573 a owl:Class ; rdfs:label "MAP1S" ; IAO:0000142 PMID:11827465, PMID:22523538 ; - oboInOwl:hasDbXref UMLS:C1825943 ; oboInOwl:hasExactSynonym "MAP1S", "bpy2-interacting protein 1", "chromosome 19 open reading frame 5", @@ -239411,7 +248139,9 @@ OMIM:607573 a owl:Class ; "vcy2-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55201 ; - skos:exactMatch HGNC_symbol:MAP1S ; + skos:exactMatch UMLS:C1825943, + HGNC:15715, + HGNC_symbol:MAP1S ; biolink:category biolink:Gene . OMIM:607574 a owl:Class ; @@ -239470,14 +248200,15 @@ OMIM:607574 a owl:Class ; PMID:9888390 ; RO:0002525 CHR:9606chr22q13.33 ; RO:0003303 OMIM:250100 ; - oboInOwl:hasDbXref UMLS:C1412553 ; oboInOwl:hasExactSynonym "ARSA", "arylsulfatase a", "cerebroside 3-sulfatase", "cerebroside-sulfatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:410 ; - skos:exactMatch HGNC_symbol:ARSA ; + skos:exactMatch UMLS:C1412553, + HGNC:713, + HGNC_symbol:ARSA ; biolink:category biolink:Gene . OMIM:607575 a owl:Class ; @@ -239493,13 +248224,14 @@ OMIM:607575 a owl:Class ; PMID:30406060 ; RO:0002525 CHR:9606chr22q11.1 ; RO:0003303 OMIM:615688 ; - oboInOwl:hasDbXref UMLS:C1413327 ; oboInOwl:hasExactSynonym "ADA2", "adenosine deaminase 2", "cat eye syndrome chromosome region, candidate 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51816 ; - skos:exactMatch HGNC_symbol:ADA2 ; + skos:exactMatch UMLS:C1413327, + HGNC:1839, + HGNC_symbol:ADA2 ; biolink:category biolink:Gene . OMIM:607576 a owl:Class ; @@ -239508,21 +248240,21 @@ OMIM:607576 a owl:Class ; PMID:11381032, PMID:11827465, PMID:15640247 ; - oboInOwl:hasDbXref UMLS:C1413328 ; oboInOwl:hasExactSynonym "CECR2", "cat eye syndrome chromosome region, candidate 2", "cecr2 histone acetyl-lysine reader", "kiaa1740" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27443 ; - skos:exactMatch HGNC_symbol:CECR2 ; + skos:exactMatch UMLS:C1413328, + HGNC:1840, + HGNC_symbol:CECR2 ; biolink:category biolink:Gene . OMIM:607577 a owl:Class ; rdfs:label "ENTPD4" ; IAO:0000142 PMID:9205841, PMID:9556635 ; - oboInOwl:hasDbXref UMLS:C1414415 ; oboInOwl:hasExactSynonym "ENTPD4", "ectonucleoside triphosphate diphosphohydrolase 4", "golgi luminal udpase", @@ -239533,7 +248265,9 @@ OMIM:607577 a owl:Class ; "uridine diphosphatase, golgi luminal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9583 ; - skos:exactMatch HGNC_symbol:ENTPD4 ; + skos:exactMatch UMLS:C1414415, + HGNC:14573, + HGNC_symbol:ENTPD4 ; biolink:category biolink:Gene . OMIM:607578 a owl:Class ; @@ -239546,47 +248280,50 @@ OMIM:607578 a owl:Class ; PMID:8216538, PMID:9108865, PMID:9733290 ; - oboInOwl:hasDbXref UMLS:C0476287 ; oboInOwl:hasExactSynonym "bhs", - "breath-holding spells" . + "breath-holding spells" ; + skos:exactMatch UMLS:C0476287 . OMIM:607579 a owl:Class ; rdfs:label "SLC22A9" ; IAO:0000142 PMID:10660625, PMID:11327718 ; - oboInOwl:hasDbXref UMLS:C1424134 ; oboInOwl:hasExactSynonym "SLC22A9", "organic anion transporter 4", "solute carrier family 22 (organic anion/cation transporter), member 9", "ust3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114571 ; - skos:exactMatch HGNC_symbol:SLC22A9 ; + skos:exactMatch UMLS:C1424134, + HGNC:16261, + HGNC_symbol:SLC22A9 ; biolink:category biolink:Gene . OMIM:607580 a owl:Class ; rdfs:label "SLC22A10" ; IAO:0000142 PMID:11327718 ; - oboInOwl:hasDbXref UMLS:C1425270 ; oboInOwl:hasExactSynonym "SLC22A10", "organic anion transporter 5", "solute carrier family 22 (organic anion/cation transporter), member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387775 ; - skos:exactMatch HGNC_symbol:SLC22A10 ; + skos:exactMatch UMLS:C1425270, + HGNC:18057, + HGNC_symbol:SLC22A10 ; biolink:category biolink:Gene . OMIM:607581 a owl:Class ; rdfs:label "SLC22A8" ; IAO:0000142 PMID:10049739, PMID:11327718 ; - oboInOwl:hasDbXref UMLS:C1420143 ; oboInOwl:hasExactSynonym "SLC22A8", "organic anion transporter 3", "solute carrier family 22 (organic anion transporter), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9376 ; - skos:exactMatch HGNC_symbol:SLC22A8 ; + skos:exactMatch UMLS:C1420143, + HGNC:10972, + HGNC_symbol:SLC22A8 ; biolink:category biolink:Gene . OMIM:607582 a owl:Class ; @@ -239594,7 +248331,6 @@ OMIM:607582 a owl:Class ; IAO:0000142 PMID:10049739, PMID:10964714, PMID:9950961 ; - oboInOwl:hasDbXref UMLS:C1420141 ; oboInOwl:hasExactSynonym "SLC22A6", "organic anion transporter 1", "pah transporter", @@ -239602,20 +248338,23 @@ OMIM:607582 a owl:Class ; "solute carrier family 22 (organic anion transporter), member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9356 ; - skos:exactMatch HGNC_symbol:SLC22A6 ; + skos:exactMatch UMLS:C1420141, + HGNC:10970, + HGNC_symbol:SLC22A6 ; biolink:category biolink:Gene . OMIM:607583 a owl:Class ; rdfs:label "PEX11G" ; IAO:0000142 PMID:12417726, PMID:12559946 ; - oboInOwl:hasDbXref UMLS:C1426775 ; oboInOwl:hasExactSynonym "PEX11G", "peroxisome biogenesis factor 11g", "pex11-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92960 ; - skos:exactMatch HGNC_symbol:PEX11G ; + skos:exactMatch UMLS:C1426775, + HGNC:20208, + HGNC_symbol:PEX11G ; biolink:category biolink:Gene . OMIM:607585 a owl:Class ; @@ -239760,7 +248499,12 @@ OMIM:607585 a owl:Class ; PMID:9887333 ; RO:0002525 CHR:9606chr11q22.3 ; RO:0003303 OMIM:114480 ; - oboInOwl:hasDbXref UMLS:C0004135, + oboInOwl:hasExactSynonym "ATM", + "ataxia-telangiectasia mutated gene", + "atm serine/threonine kinase" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:472 ; + skos:exactMatch UMLS:C0004135, UMLS:C0346153, UMLS:C0740457, UMLS:C0919524, @@ -239775,59 +248519,59 @@ OMIM:607585 a owl:Class ; UMLS:C4017102, UMLS:C4017103, UMLS:C4017104, - UMLS:C4721414 ; - oboInOwl:hasExactSynonym "ATM", - "ataxia-telangiectasia mutated gene", - "atm serine/threonine kinase" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:472 ; - skos:exactMatch HGNC_symbol:ATM ; + UMLS:C4721414, + HGNC:795, + HGNC_symbol:ATM ; biolink:category biolink:Gene . OMIM:607586 a owl:Class ; rdfs:label "CARF" ; IAO:0000142 PMID:11832226 ; - oboInOwl:hasDbXref UMLS:C1422645 ; oboInOwl:hasExactSynonym "CARF", "als2 chromosome region gene 8", "calcium response factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79800 ; - skos:exactMatch HGNC_symbol:CARF ; + skos:exactMatch UMLS:C1422645, + HGNC:14435, + HGNC_symbol:CARF ; biolink:category biolink:Gene . OMIM:607587 a owl:Class ; rdfs:label "IL17D" ; IAO:0000142 PMID:12097364 ; - oboInOwl:hasDbXref UMLS:C1416390 ; oboInOwl:hasExactSynonym "IL17D", "interleukin 17d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53342 ; - skos:exactMatch HGNC_symbol:IL17D ; + skos:exactMatch UMLS:C1416390, + HGNC:5984, + HGNC_symbol:IL17D ; biolink:category biolink:Gene . OMIM:607588 a owl:Class ; rdfs:label "PPIL2" ; IAO:0000142 PMID:8660300 ; - oboInOwl:hasDbXref UMLS:C1418801 ; oboInOwl:hasExactSynonym "PPIL2", "cyclophilin, 60-kd", "peptidyl-prolyl isomerase-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23759 ; - skos:exactMatch HGNC_symbol:PPIL2 ; + skos:exactMatch UMLS:C1418801, + HGNC:9261, + HGNC_symbol:PPIL2 ; biolink:category biolink:Gene . OMIM:607589 a owl:Class ; rdfs:label "SGK2" ; IAO:0000142 PMID:10548550 ; - oboInOwl:hasDbXref UMLS:C1422258 ; oboInOwl:hasExactSynonym "SGK2", "serum/glucocorticoid-regulated kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10110 ; - skos:exactMatch HGNC_symbol:SGK2 ; + skos:exactMatch UMLS:C1422258, + HGNC:13900, + HGNC_symbol:SGK2 ; biolink:category biolink:Gene . OMIM:607590 a owl:Class ; @@ -239842,13 +248586,14 @@ OMIM:607590 a owl:Class ; PMID:22072986 ; RO:0002525 CHR:9606chr4q27 ; RO:0003303 OMIM:615984 ; - oboInOwl:hasDbXref UMLS:C1425764 ; oboInOwl:hasExactSynonym "BBS7", "bbs7 gene", "flj10715" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55212 ; - skos:exactMatch HGNC_symbol:BBS7 ; + skos:exactMatch UMLS:C1425764, + HGNC:18758, + HGNC_symbol:BBS7 ; biolink:category biolink:Gene . OMIM:607591 a owl:Class ; @@ -239860,14 +248605,15 @@ OMIM:607591 a owl:Class ; PMID:12397388, PMID:15871460, PMID:30927068 ; - oboInOwl:hasDbXref UMLS:C1822702 ; oboInOwl:hasExactSynonym "SGK3", "cytokine-independent survival kinase", "serum/glucocorticoid-regulated kinase 3", "serum/glucocorticoid-regulated kinase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23678 ; - skos:exactMatch HGNC_symbol:SGK3 ; + skos:exactMatch UMLS:C1822702, + HGNC:10812, + HGNC_symbol:SGK3 ; biolink:category biolink:Gene . OMIM:607593 a owl:Class ; @@ -239882,14 +248628,15 @@ OMIM:607593 a owl:Class ; PMID:18006705, PMID:21293379, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1427378 ; oboInOwl:hasExactSynonym "MDC1", "kiaa0170", "mediator of DNA damage checkpoint protein 1", "nuclear factor with brct domains protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9656 ; - skos:exactMatch HGNC_symbol:MDC1 ; + skos:exactMatch UMLS:C1427378, + HGNC:21163, + HGNC_symbol:MDC1 ; biolink:category biolink:Gene . OMIM:607595 a owl:Class ; @@ -239899,40 +248646,41 @@ OMIM:607595 a owl:Class ; OMIM:607597 a owl:Class ; rdfs:label "microphthalmia with cyst, bilateral facial clefts, and limb anomalies" ; IAO:0000142 PMID:12548743 ; - oboInOwl:hasDbXref UMLS:C1843492 ; - oboInOwl:hasExactSynonym "microphthalmia with cyst, bilateral facial clefts, and limb anomalies" . + oboInOwl:hasExactSynonym "microphthalmia with cyst, bilateral facial clefts, and limb anomalies" ; + skos:exactMatch UMLS:C1843492 . OMIM:607598 a owl:Class ; rdfs:label "lethal congenital contracture syndrome 2" ; IAO:0000142 PMID:12548738, PMID:15378541, PMID:17701904 ; - oboInOwl:hasDbXref UMLS:C1843478 ; oboInOwl:hasExactSynonym "LCCS2", "lethal congenital contracture syndrome 2", "multiple contracture syndrome, israeli bedouin iia a" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C1843478 ; biolink:category biolink:Disease . OMIM:607599 a owl:Class ; rdfs:label "RDH10" ; IAO:0000142 PMID:12407145, PMID:17473173 ; - oboInOwl:hasDbXref UMLS:C1426576 ; oboInOwl:hasExactSynonym "RDH10", "retinol dehydrogenase 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157506 ; - skos:exactMatch HGNC_symbol:RDH10 ; + skos:exactMatch UMLS:C1426576, + HGNC:19975, + HGNC_symbol:RDH10 ; biolink:category biolink:Gene . OMIM:607600 a owl:Class ; rdfs:label "epidermolysis bullosa simplex superficialis" ; IAO:0000142 PMID:11874498, PMID:2653224 ; - oboInOwl:hasDbXref UMLS:C1843477 ; oboInOwl:hasExactSynonym "EBSS", "epidermolysis bullosa simplex superficialis" ; + skos:exactMatch UMLS:C1843477 ; biolink:category biolink:Disease . OMIM:607601 a owl:Class ; @@ -239952,27 +248700,29 @@ OMIM:607601 a owl:Class ; PMID:26513235 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:614850 ; - oboInOwl:hasDbXref UMLS:C1843476 ; oboInOwl:hasExactSynonym "TICAM1", "tir domain-containing adaptor inducing interferon-beta", "tir domain-containing adaptor molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148022 ; - skos:exactMatch HGNC_symbol:TICAM1 ; + skos:exactMatch UMLS:C1843476, + HGNC:18348, + HGNC_symbol:TICAM1 ; biolink:category biolink:Gene . OMIM:607603 a owl:Class ; rdfs:label "KCNG4" ; IAO:0000142 PMID:12060745, PMID:24626931 ; - oboInOwl:hasDbXref UMLS:C1426342 ; oboInOwl:hasExactSynonym "KCNG4", "kv6.3", "kv6.4", "potassium channel, voltage-gated, subfamily g, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93107 ; - skos:exactMatch HGNC_symbol:KCNG4 ; + skos:exactMatch UMLS:C1426342, + HGNC:19697, + HGNC_symbol:KCNG4 ; biolink:category biolink:Gene . OMIM:607604 a owl:Class ; @@ -239984,25 +248734,27 @@ OMIM:607604 a owl:Class ; PMID:8333273 ; RO:0002525 CHR:9606chr9p24.2 ; RO:0003303 OMIM:610356 ; - oboInOwl:hasDbXref UMLS:C1426343 ; oboInOwl:hasExactSynonym "KCNV2", "kv8.2", "potassium channel, voltage-gated, subfamily v, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:169522 ; - skos:exactMatch HGNC_symbol:KCNV2 ; + skos:exactMatch UMLS:C1426343, + HGNC:19698, + HGNC_symbol:KCNV2 ; biolink:category biolink:Gene . OMIM:607605 a owl:Class ; rdfs:label "GSTA5" ; IAO:0000142 PMID:12042665 ; - oboInOwl:hasDbXref UMLS:C1426312 ; oboInOwl:hasExactSynonym "GSTA5", "glutathione s-transferase a5", "glutathione s-transferase, alpha-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221357 ; - skos:exactMatch HGNC_symbol:GSTA5 ; + skos:exactMatch UMLS:C1426312, + HGNC:19662, + HGNC_symbol:GSTA5 ; biolink:category biolink:Gene . OMIM:607606 a owl:Class ; @@ -240028,26 +248780,28 @@ OMIM:607606 a owl:Class ; PMID:9856842 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:144200 ; - oboInOwl:hasDbXref UMLS:C1416747 ; oboInOwl:hasExactSynonym "KRT9", "k9", "ka9", "keratin 9, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3857 ; - skos:exactMatch HGNC_symbol:KRT9 ; + skos:exactMatch UMLS:C1416747, + HGNC:6447, + HGNC_symbol:KRT9 ; biolink:category biolink:Gene . OMIM:607607 a owl:Class ; rdfs:label "NUP54" ; IAO:0000142 PMID:26292704, PMID:8707840 ; - oboInOwl:hasDbXref UMLS:C1424932 ; oboInOwl:hasExactSynonym "NUP54", "nucleoporin, 54-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53371 ; - skos:exactMatch HGNC_symbol:NUP54 ; + skos:exactMatch UMLS:C1424932, + HGNC:17359, + HGNC_symbol:NUP54 ; biolink:category biolink:Gene . OMIM:607608 a owl:Class ; @@ -240089,58 +248843,63 @@ OMIM:607608 a owl:Class ; PMID:9393854 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:607616 ; - oboInOwl:hasDbXref UMLS:C1420259 ; oboInOwl:hasExactSynonym "SMPD1", "sphingomyelin phosphodiesterase 1, acid lysosomal", "sphingomyelinase, acid" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6609 ; - skos:exactMatch HGNC_symbol:SMPD1 ; + skos:exactMatch UMLS:C1420259, + HGNC:11120, + HGNC_symbol:SMPD1 ; biolink:category biolink:Gene . OMIM:607609 a owl:Class ; rdfs:label "PPIL4" ; IAO:0000142 PMID:11978968 ; - oboInOwl:hasDbXref UMLS:C1423668 ; oboInOwl:hasExactSynonym "PPIL4", "peptidyl-prolyl isomerase-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85313 ; - skos:exactMatch HGNC_symbol:PPIL4 ; + skos:exactMatch UMLS:C1423668, + HGNC:15702, + HGNC_symbol:PPIL4 ; biolink:category biolink:Gene . OMIM:607610 a owl:Class ; rdfs:label "PLSCR2" ; IAO:0000142 PMID:10930526 ; - oboInOwl:hasDbXref UMLS:C1424326 ; oboInOwl:hasExactSynonym "PLSCR2", "phospholipid scramblase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57047 ; - skos:exactMatch HGNC_symbol:PLSCR2 ; + skos:exactMatch UMLS:C1424326, + HGNC:16494, + HGNC_symbol:PLSCR2 ; biolink:category biolink:Gene . OMIM:607611 a owl:Class ; rdfs:label "PLSCR3" ; IAO:0000142 PMID:10930526, PMID:15328404 ; - oboInOwl:hasDbXref UMLS:C1424327 ; oboInOwl:hasExactSynonym "PLSCR3", "phospholipid scramblase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57048 ; - skos:exactMatch HGNC_symbol:PLSCR3 ; + skos:exactMatch UMLS:C1424327, + HGNC:16495, + HGNC_symbol:PLSCR3 ; biolink:category biolink:Gene . OMIM:607612 a owl:Class ; rdfs:label "PLSCR4" ; IAO:0000142 PMID:10930526 ; - oboInOwl:hasDbXref UMLS:C1424329 ; oboInOwl:hasExactSynonym "PLSCR4", "phospholipid scramblase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57088 ; - skos:exactMatch HGNC_symbol:PLSCR4 ; + skos:exactMatch UMLS:C1424329, + HGNC:16497, + HGNC_symbol:PLSCR4 ; biolink:category biolink:Gene . OMIM:607613 a owl:Class ; @@ -240155,12 +248914,13 @@ OMIM:607613 a owl:Class ; PMID:30427554 ; RO:0002525 CHR:9606chr1q42.13 ; RO:0003303 OMIM:618177 ; - oboInOwl:hasDbXref UMLS:C1425242 ; oboInOwl:hasExactSynonym "NUP133", "nucleoporin, 133-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55746 ; - skos:exactMatch HGNC_symbol:NUP133 ; + skos:exactMatch UMLS:C1425242, + HGNC:18016, + HGNC_symbol:NUP133 ; biolink:category biolink:Gene . OMIM:607614 a owl:Class ; @@ -240173,28 +248933,30 @@ OMIM:607614 a owl:Class ; PMID:8724849 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:618178 ; - oboInOwl:hasDbXref UMLS:C1425243 ; oboInOwl:hasExactSynonym "NUP160", "kiaa0197", "nucleoporin, 160-kd", "nup120" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23279 ; - skos:exactMatch HGNC_symbol:NUP160 ; + skos:exactMatch UMLS:C1425243, + HGNC:18017, + HGNC_symbol:NUP160 ; biolink:category biolink:Gene . OMIM:607615 a owl:Class ; rdfs:label "NUP58" ; IAO:0000142 PMID:26292704, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1426818 ; oboInOwl:hasExactSynonym "NUP58", "kiaa0410", "nucleoporin, 58-kd", "nucleoporin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9818 ; - skos:exactMatch HGNC_symbol:NUP58 ; + skos:exactMatch UMLS:C1426818, + HGNC:20261, + HGNC_symbol:NUP58 ; biolink:category biolink:Gene . OMIM:607617 a owl:Class ; @@ -240212,33 +248974,34 @@ OMIM:607617 a owl:Class ; PMID:30179222 ; RO:0002525 CHR:9606chr12q15 ; RO:0003303 OMIM:616730 ; - oboInOwl:hasDbXref UMLS:C1428908 ; oboInOwl:hasExactSynonym "NUP107", "nucleoporin, 107-kd", "nup84, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57122 ; - skos:exactMatch HGNC_symbol:NUP107 ; + skos:exactMatch UMLS:C1428908, + HGNC:29914, + HGNC_symbol:NUP107 ; biolink:category biolink:Gene . OMIM:607618 a owl:Class ; rdfs:label "DDX28" ; IAO:0000142 PMID:11350955 ; - oboInOwl:hasDbXref UMLS:C1424908 ; oboInOwl:hasExactSynonym "DDX28", "dead-box helicase 28", "dead/h-box 28", "mitochondrial dead box polypeptide 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55794 ; - skos:exactMatch HGNC_symbol:DDX28 ; + skos:exactMatch UMLS:C1424908, + HGNC:17330, + HGNC_symbol:DDX28 ; biolink:category biolink:Gene . OMIM:607619 a owl:Class ; rdfs:label "FRMD3" ; IAO:0000142 PMID:12601556, PMID:17260017 ; - oboInOwl:hasDbXref UMLS:C1428345 ; oboInOwl:hasExactSynonym "FRMD3", "epb41lo", "ferm domain-containing protein 3", @@ -240246,7 +249009,9 @@ OMIM:607619 a owl:Class ; "protein 4.1o" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257019 ; - skos:exactMatch HGNC_symbol:FRMD3 ; + skos:exactMatch UMLS:C1428345, + HGNC:24125, + HGNC_symbol:FRMD3 ; biolink:category biolink:Gene . OMIM:607620 a owl:Class ; @@ -240255,13 +249020,14 @@ OMIM:607620 a owl:Class ; PMID:28301481 ; RO:0002525 CHR:9606chr8q24.12 ; RO:0003303 OMIM:248340 ; - oboInOwl:hasDbXref UMLS:C1413598 ; oboInOwl:hasExactSynonym "COLEC10", "collectin 10", "collectin, liver, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10584 ; - skos:exactMatch HGNC_symbol:COLEC10 ; + skos:exactMatch UMLS:C1413598, + HGNC:2220, + HGNC_symbol:COLEC10 ; biolink:category biolink:Gene . OMIM:607621 a owl:Class ; @@ -240270,7 +249036,6 @@ OMIM:607621 a owl:Class ; PMID:11564734, PMID:11718900, PMID:12601552 ; - oboInOwl:hasDbXref UMLS:C1423911 ; oboInOwl:hasExactSynonym "COLEC12", "collectin 12", "collectin, placenta, 1", @@ -240278,7 +249043,9 @@ OMIM:607621 a owl:Class ; "scavenger receptor with c-type lectin domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81035 ; - skos:exactMatch HGNC_symbol:COLEC12 ; + skos:exactMatch UMLS:C1423911, + HGNC:16016, + HGNC_symbol:COLEC12 ; biolink:category biolink:Gene . OMIM:607622 a owl:Class ; @@ -240288,14 +249055,15 @@ OMIM:607622 a owl:Class ; PMID:8663599 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:175800 ; - oboInOwl:hasDbXref UMLS:C1418695 ; oboInOwl:hasExactSynonym "PMVK", "phosphomevalonate kinase", "pmk", "pmkase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10654 ; - skos:exactMatch HGNC_symbol:PMVK ; + skos:exactMatch UMLS:C1418695, + HGNC:9141, + HGNC_symbol:PMVK ; biolink:category biolink:Gene . OMIM:607623 a owl:Class ; @@ -240342,30 +249110,32 @@ OMIM:607623 a owl:Class ; PMID:9990080 ; RO:0002525 CHR:9606chr18q11.2 ; RO:0003303 OMIM:257220 ; - oboInOwl:hasDbXref UMLS:C0268247, - UMLS:C1417776, - UMLS:C3179455, - UMLS:C4017105, - UMLS:C4017106, - UMLS:C4017107 ; oboInOwl:hasExactSynonym "NPC1", "npc intracellular cholesterol transporter 1", "npc1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4864 ; - skos:exactMatch HGNC_symbol:NPC1 ; + skos:exactMatch UMLS:C0268247, + UMLS:C1417776, + UMLS:C3179455, + UMLS:C4017105, + UMLS:C4017106, + UMLS:C4017107, + HGNC:7897, + HGNC_symbol:NPC1 ; biolink:category biolink:Gene . OMIM:607627 a owl:Class ; rdfs:label "BPIFA4P" ; IAO:0000142 PMID:12538848 ; - oboInOwl:hasDbXref UMLS:C1843354 ; oboInOwl:hasExactSynonym "BPIFA4P", "bpi fold-containing protein, family a, member 4, pseudogene", "breast cancer- and salivary gland-expressed gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:317716 ; - skos:exactMatch HGNC_symbol:BPIFA4P ; + skos:exactMatch UMLS:C1843354, + HGNC:20469, + HGNC_symbol:BPIFA4P ; biolink:category biolink:Gene . OMIM:607629 a owl:Class ; @@ -240377,13 +249147,14 @@ OMIM:607629 a owl:Class ; PMID:12297508, PMID:12660785, PMID:25043039 ; - oboInOwl:hasDbXref UMLS:C1538913 ; oboInOwl:hasExactSynonym "APH1A", "anterior pharynx defective 1, c. elegans, homolog of, a", "aph1 homolog a, gamma secretase subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51107 ; - skos:exactMatch HGNC_symbol:APH1A ; + skos:exactMatch UMLS:C1538913, + HGNC:29509, + HGNC_symbol:APH1A ; biolink:category biolink:Gene . OMIM:607630 a owl:Class ; @@ -240394,13 +249165,14 @@ OMIM:607630 a owl:Class ; PMID:12297508, PMID:12660785, PMID:19299585 ; - oboInOwl:hasDbXref UMLS:C1538914 ; oboInOwl:hasExactSynonym "APH1B", "anterior pharynx defective 1, c. elegans, homolog of, B", "aph1 homolog b, gamma-secretase subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83464 ; - skos:exactMatch HGNC_symbol:APH1B ; + skos:exactMatch UMLS:C1538914, + HGNC:24080, + HGNC_symbol:APH1B ; biolink:category biolink:Gene . OMIM:607632 a owl:Class ; @@ -240419,14 +249191,15 @@ OMIM:607632 a owl:Class ; PMID:28601418 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:613736 ; - oboInOwl:hasDbXref UMLS:C1538738 ; oboInOwl:hasExactSynonym "PSENEN", "pen2", "presenilin enhancer 2, c. elegans, homolog of", "presenilin enhancer, gamma-secretase subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55851 ; - skos:exactMatch HGNC_symbol:PSENEN ; + skos:exactMatch UMLS:C1538738, + HGNC:30100, + HGNC_symbol:PSENEN ; biolink:category biolink:Gene . OMIM:607633 a owl:Class ; @@ -240443,14 +249216,15 @@ OMIM:607633 a owl:Class ; PMID:9153281 ; RO:0002525 CHR:9606chr2p23.1 ; RO:0003303 OMIM:278300 ; - oboInOwl:hasDbXref UMLS:C1421531 ; oboInOwl:hasExactSynonym "XDH", "xanthine dehydrogenase", "xanthine oxidase", "xanthine oxidoreductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7498 ; - skos:exactMatch HGNC_symbol:XDH ; + skos:exactMatch UMLS:C1421531, + HGNC:12805, + HGNC_symbol:XDH ; biolink:category biolink:Gene . OMIM:607634 a owl:Class ; @@ -240461,11 +249235,11 @@ OMIM:607634 a owl:Class ; PMID:3377922, PMID:3588909, PMID:8358946 ; - oboInOwl:hasDbXref UMLS:C1843330 ; oboInOwl:hasExactSynonym "OPTA1", "osteopetrosis, autosomal dominant 1", "osteopetrosis, autosomal dominant, iia 1" ; rdfs:subClassOf OMIMPS:607634 ; + skos:exactMatch UMLS:C1843330 ; biolink:category biolink:Disease . OMIM:607635 a owl:Class ; @@ -240475,58 +249249,62 @@ OMIM:607635 a owl:Class ; PMID:12552318, PMID:12676894, PMID:15738388 ; - oboInOwl:hasDbXref UMLS:C1423695 ; oboInOwl:hasExactSynonym "CPA4", "carboxypeptidase a4", "cpa3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51200 ; - skos:exactMatch HGNC_symbol:CPA4 ; + skos:exactMatch UMLS:C1423695, + HGNC:15740, + HGNC_symbol:CPA4 ; biolink:category biolink:Gene . OMIM:607636 a owl:Class ; IAO:0000142 PMID:10434540, PMID:12579474 ; IAO:0100001 OMIM:144750 ; - oboInOwl:hasDbXref UMLS:C1843323 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1843323 . OMIM:607637 a owl:Class ; rdfs:label "EMX2OS" ; IAO:0000142 PMID:12573261 ; - oboInOwl:hasDbXref UMLS:C1425567 ; oboInOwl:hasExactSynonym "EMX2OS", "emx2 opposite strand", "emx2 opposite strand/antisense RNA", "emx2-antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196047 ; - skos:exactMatch HGNC_symbol:EMX2OS ; + skos:exactMatch UMLS:C1425567, + HGNC:18511, + HGNC_symbol:EMX2OS ; biolink:category biolink:Gene . OMIM:607638 a owl:Class ; rdfs:label "DCTD" ; IAO:0000142 PMID:7642519, PMID:7685356 ; - oboInOwl:hasDbXref UMLS:C1413934 ; oboInOwl:hasExactSynonym "DCTD", "deoxycytidylate deaminase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1635 ; - skos:exactMatch HGNC_symbol:DCTD ; + skos:exactMatch UMLS:C1413934, + HGNC:2710, + HGNC_symbol:DCTD ; biolink:category biolink:Gene . OMIM:607639 a owl:Class ; rdfs:label "SSC4D" ; IAO:0000142 PMID:12466895 ; - oboInOwl:hasDbXref UMLS:C1422667 ; oboInOwl:hasExactSynonym "SSC4D", "protein with 4 group B scavenger receptor cysteine-rich domains", "s4d-srcrb", "scavenger receptor cysteine-rich family member with 4 domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136853 ; - skos:exactMatch HGNC_symbol:SSC4D ; + skos:exactMatch UMLS:C1422667, + HGNC:14461, + HGNC_symbol:SSC4D ; biolink:category biolink:Gene . OMIM:607640 a owl:Class ; @@ -240554,20 +249332,20 @@ OMIM:607640 a owl:Class ; PMID:9288099 ; RO:0002525 CHR:9606chr3p14.1 ; RO:0003303 OMIM:164500 ; - oboInOwl:hasDbXref UMLS:C0752125, - UMLS:C1538303 ; oboInOwl:hasExactSynonym "ATXN7", "ataxin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6314 ; - skos:exactMatch HGNC_symbol:ATXN7 ; + skos:exactMatch UMLS:C0752125, + UMLS:C1538303, + HGNC:10560, + HGNC_symbol:ATXN7 ; biolink:category biolink:Gene . OMIM:607641 a owl:Class ; rdfs:label "neuronopathy, distal hereditary motor, iia 7b" ; IAO:0000142 PMID:12627231, PMID:15326253 ; - oboInOwl:hasDbXref UMLS:C1843315 ; oboInOwl:hasExactSynonym "HMN7B", "dhmn7b", "hmn 7b", @@ -240575,6 +249353,7 @@ OMIM:607641 a owl:Class ; "neuronopathy, distal hereditary motor, iia 7b", "neuropathy, distal hereditary motor, iia 7b", "neuropathy, distal hereditary motor, with vocal cord paralysis, iia 7b" ; + skos:exactMatch UMLS:C1843315 ; biolink:category biolink:Disease . OMIM:607642 a owl:Class ; @@ -240599,13 +249378,14 @@ OMIM:607642 a owl:Class ; PMID:22578325 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:182290 ; - oboInOwl:hasDbXref UMLS:C1419249 ; oboInOwl:hasExactSynonym "RAI1", "retinoic acid-induced gene 1", "retinoic acid-inducible 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10743 ; - skos:exactMatch HGNC_symbol:RAI1 ; + skos:exactMatch UMLS:C1419249, + HGNC:9834, + HGNC_symbol:RAI1 ; biolink:category biolink:Gene . OMIM:607643 a owl:Class ; @@ -240623,27 +249403,29 @@ OMIM:607643 a owl:Class ; PMID:9315724 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:607921 ; - oboInOwl:hasDbXref UMLS:C1414820 ; oboInOwl:hasExactSynonym "FSCN2", "fascin actin-bundling protein 2, retinal", "fascin, retinal", "fascin, sea urchin, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25794 ; - skos:exactMatch HGNC_symbol:FSCN2 ; + skos:exactMatch UMLS:C1414820, + HGNC:3960, + HGNC_symbol:FSCN2 ; biolink:category biolink:Gene . OMIM:607645 a owl:Class ; rdfs:label "NSG1" ; IAO:0000142 PMID:1387107, PMID:9013775 ; - oboInOwl:hasDbXref UMLS:C1843305 ; oboInOwl:hasExactSynonym "NSG1", "d4s234e gene", "neuronal vesicle trafficking associated 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27065 ; - skos:exactMatch HGNC_symbol:NSG1 ; + skos:exactMatch UMLS:C1843305, + HGNC:18790, + HGNC_symbol:NSG1 ; biolink:category biolink:Gene . OMIM:607646 a owl:Class ; @@ -240657,7 +249439,6 @@ OMIM:607646 a owl:Class ; PMID:7937772, PMID:9370309, PMID:9653162 ; - oboInOwl:hasDbXref UMLS:C1538144 ; oboInOwl:hasExactSynonym "ZBTB7B", "collagen krox protein", "t helper-inducing poz/kruppel-like factor", @@ -240665,7 +249446,9 @@ OMIM:607646 a owl:Class ; "zinc finger- and btb domain-containing protein 7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51043 ; - skos:exactMatch HGNC_symbol:ZBTB7B ; + skos:exactMatch UMLS:C1538144, + HGNC:18668, + HGNC_symbol:ZBTB7B ; biolink:category biolink:Gene . OMIM:607647 a owl:Class ; @@ -240683,25 +249466,27 @@ OMIM:607647 a owl:Class ; PMID:29875123 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:618183 ; - oboInOwl:hasDbXref UMLS:C1422123 ; oboInOwl:hasExactSynonym "PLVAP", "plasmalemma vesicle protein 1", "plasmalemma vesicle-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83483 ; - skos:exactMatch HGNC_symbol:PLVAP ; + skos:exactMatch UMLS:C1422123, + HGNC:13635, + HGNC_symbol:PLVAP ; biolink:category biolink:Gene . OMIM:607648 a owl:Class ; rdfs:label "STK39" ; IAO:0000142 PMID:10980603 ; - oboInOwl:hasDbXref UMLS:C1425045 ; oboInOwl:hasExactSynonym "STK39", "serine/threonine protein kinase 39", "ste20/sps1-related proline- and alanine-rich kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27347 ; - skos:exactMatch HGNC_symbol:STK39 ; + skos:exactMatch UMLS:C1425045, + HGNC:17717, + HGNC_symbol:STK39 ; biolink:category biolink:Gene . OMIM:607649 a owl:Class ; @@ -240716,26 +249501,28 @@ OMIM:607649 a owl:Class ; PMID:24719316 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:259720 ; - oboInOwl:hasDbXref UMLS:C1427674 ; oboInOwl:hasExactSynonym "OSTM1", "grey-lethal, mouse, homolog of", "osteopetrosis-associated transmembrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28962 ; - skos:exactMatch HGNC_symbol:OSTM1 ; + skos:exactMatch UMLS:C1427674, + HGNC:21652, + HGNC_symbol:OSTM1 ; biolink:category biolink:Gene . OMIM:607650 a owl:Class ; rdfs:label "DEFB118" ; IAO:0000142 PMID:11564719 ; - oboInOwl:hasDbXref UMLS:C1424073 ; oboInOwl:hasExactSynonym "DEFB118", "chromosome 20 open reading frame 63", "defensin, beta, 118", "epididymis-specific clone 42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117285 ; - skos:exactMatch HGNC_symbol:DEFB118 ; + skos:exactMatch UMLS:C1424073, + HGNC:16196, + HGNC_symbol:DEFB118 ; biolink:category biolink:Gene . OMIM:607651 a owl:Class ; @@ -240744,7 +249531,6 @@ OMIM:607651 a owl:Class ; PMID:10585447, PMID:10923244, PMID:15456885 ; - oboInOwl:hasDbXref UMLS:C1425995 ; oboInOwl:hasExactSynonym "PLEKHB1", "evectin 1", "kpl1", @@ -240752,7 +249538,9 @@ OMIM:607651 a owl:Class ; "pleckstrin homology domain-containing protein, retinal, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58473 ; - skos:exactMatch HGNC_symbol:PLEKHB1 ; + skos:exactMatch UMLS:C1425995, + HGNC:19079, + HGNC_symbol:PLEKHB1 ; biolink:category biolink:Gene . OMIM:607652 a owl:Class ; @@ -240763,21 +249551,21 @@ OMIM:607652 a owl:Class ; PMID:19305393 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:619436 ; - oboInOwl:hasDbXref UMLS:C1424823 ; oboInOwl:hasExactSynonym "STK36", "fused, drosophila, homolog of", "kiaa1278", "serine/threonine protein kinase 36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27148 ; - skos:exactMatch HGNC_symbol:STK36 ; + skos:exactMatch UMLS:C1424823, + HGNC:17209, + HGNC_symbol:STK36 ; biolink:category biolink:Gene . OMIM:607653 a owl:Class ; rdfs:label "RHOJ" ; IAO:0000142 PMID:10967094, PMID:30158707 ; - oboInOwl:hasDbXref UMLS:C1412532 ; oboInOwl:hasExactSynonym "RHOJ", "arhj", "ras homolog gene family, member j", @@ -240785,25 +249573,27 @@ OMIM:607653 a owl:Class ; "tc10-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57381 ; - skos:exactMatch HGNC_symbol:RHOJ ; + skos:exactMatch UMLS:C1412532, + HGNC:688, + HGNC_symbol:RHOJ ; biolink:category biolink:Gene . OMIM:607654 a owl:Class ; rdfs:label "keratosis palmoplantaris striata 3" ; IAO:0000142 PMID:11982762 ; - oboInOwl:hasDbXref UMLS:C2931123 ; oboInOwl:hasExactSynonym "PPKS3", "keratoderma, palmoplantar, striate form 3", "keratosis palmoplantaris striata 3", "striate palmoplantar keratoderma 3" ; + skos:exactMatch UMLS:C2931123 ; biolink:category biolink:Disease . OMIM:607656 a owl:Class ; rdfs:label "curly hair-acral keratoderma-caries syndrome" ; IAO:0000142 PMID:11453928 ; - oboInOwl:hasDbXref UMLS:C1843291 ; oboInOwl:hasExactSynonym "chacs", "curly hair-acral keratoderma-caries syndrome" ; + skos:exactMatch UMLS:C1843291 ; biolink:category biolink:Disease . OMIM:607657 a owl:Class ; @@ -240818,48 +249608,51 @@ OMIM:607657 a owl:Class ; PMID:24670645 ; RO:0002525 CHR:9606chr1p31.1 ; RO:0003303 OMIM:219500 ; - oboInOwl:hasDbXref UMLS:C0220993, - UMLS:C1413792, - UMLS:C5436963 ; oboInOwl:hasExactSynonym "CTH", "cystathionase", "cystathionine gamma-lyase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1491 ; - skos:exactMatch HGNC_symbol:CTH ; + skos:exactMatch UMLS:C0220993, + UMLS:C1413792, + UMLS:C5436963, + HGNC:2501, + HGNC_symbol:CTH ; biolink:category biolink:Gene . OMIM:607658 a owl:Class ; rdfs:label "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" ; IAO:0000142 PMID:12207605 ; - oboInOwl:hasDbXref UMLS:C1843285 ; oboInOwl:hasExactSynonym "hopp syndrome", "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" ; + skos:exactMatch UMLS:C1843285 ; biolink:category biolink:Disease . OMIM:607659 a owl:Class ; rdfs:label "EAF2" ; IAO:0000142 PMID:12446457, PMID:16006523 ; - oboInOwl:hasDbXref UMLS:C1427926 ; oboInOwl:hasExactSynonym "EAF2", "ell-associated factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55840 ; - skos:exactMatch HGNC_symbol:EAF2 ; + skos:exactMatch UMLS:C1427926, + HGNC:23115, + HGNC_symbol:EAF2 ; biolink:category biolink:Gene . OMIM:607660 a owl:Class ; rdfs:label "TSSK3" ; IAO:0000142 PMID:11597141 ; - oboInOwl:hasDbXref UMLS:C1540104 ; oboInOwl:hasExactSynonym "TSSK3", "serine/threonine protein kinase 22c", "stk22d, mouse, homolog of", "testis-specific serine/threonine kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81629 ; - skos:exactMatch HGNC_symbol:TSSK3 ; + skos:exactMatch UMLS:C1540104, + HGNC:15473, + HGNC_symbol:TSSK3 ; biolink:category biolink:Gene . OMIM:607661 a owl:Class ; @@ -240869,13 +249662,14 @@ OMIM:607661 a owl:Class ; OMIM:607662 a owl:Class ; rdfs:label "SPATA2" ; IAO:0000142 PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1422836 ; oboInOwl:hasExactSynonym "SPATA2", "kiaa0757", "spermatogenesis-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9825 ; - skos:exactMatch HGNC_symbol:SPATA2 ; + skos:exactMatch UMLS:C1422836, + HGNC:14681, + HGNC_symbol:SPATA2 ; biolink:category biolink:Gene . OMIM:607663 a owl:Class ; @@ -240883,14 +249677,15 @@ OMIM:607663 a owl:Class ; IAO:0000142 PMID:10608860, PMID:15096601, PMID:21719703 ; - oboInOwl:hasDbXref UMLS:C1425718 ; oboInOwl:hasExactSynonym "DDX25", "dead-box helicase 25", "dead-box polypeptide 25", "gonadotropin-regulated testicular RNA helicase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29118 ; - skos:exactMatch HGNC_symbol:DDX25 ; + skos:exactMatch UMLS:C1425718, + HGNC:18698, + HGNC_symbol:DDX25 ; biolink:category biolink:Gene . OMIM:607664 a owl:Class ; @@ -240908,13 +249703,14 @@ OMIM:607664 a owl:Class ; PMID:6450420 ; RO:0002525 CHR:9606chr12q14.3 ; RO:0003303 OMIM:252940 ; - oboInOwl:hasDbXref UMLS:C1415172 ; oboInOwl:hasExactSynonym "GNS", "glucosamine-6-sulfatase", "n-acetylglucosamine-6-sulfatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2799 ; - skos:exactMatch HGNC_symbol:GNS ; + skos:exactMatch UMLS:C1415172, + HGNC:4422, + HGNC_symbol:GNS ; biolink:category biolink:Gene . OMIM:607665 a owl:Class ; @@ -240929,23 +249725,24 @@ OMIM:607665 a owl:Class ; PMID:7947032, PMID:8255514, PMID:9918273 ; - oboInOwl:hasDbXref UMLS:C1843273, - UMLS:C1843274 ; oboInOwl:hasExactSynonym "TINU", "acute tubulointerstitial nephritis", - "tubulointerstitial nephritis with uveitis" . + "tubulointerstitial nephritis with uveitis" ; + skos:exactMatch UMLS:C1843273, + UMLS:C1843274 . OMIM:607666 a owl:Class ; rdfs:label "ANGPTL5" ; IAO:0000142 PMID:12624729, PMID:19075393, PMID:22660330 ; - oboInOwl:hasDbXref UMLS:C1426346 ; oboInOwl:hasExactSynonym "ANGPTL5", "angiopoietin-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253935 ; - skos:exactMatch HGNC_symbol:ANGPTL5 ; + skos:exactMatch UMLS:C1426346, + HGNC:19705, + HGNC_symbol:ANGPTL5 ; biolink:category biolink:Gene . OMIM:607667 a owl:Class ; @@ -240957,25 +249754,27 @@ OMIM:607667 a owl:Class ; PMID:23136403 ; RO:0002525 CHR:9606chr10q21.3 ; RO:0003303 OMIM:615616 ; - oboInOwl:hasDbXref UMLS:C1413797 ; oboInOwl:hasExactSynonym "CTNNA3", "alpha-t-catenin", "catenin, alpha-3", "vr22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29119 ; - skos:exactMatch HGNC_symbol:CTNNA3 ; + skos:exactMatch UMLS:C1413797, + HGNC:2511, + HGNC_symbol:CTNNA3 ; biolink:category biolink:Gene . OMIM:607668 a owl:Class ; rdfs:label "ARL6IP4" ; IAO:0000142 PMID:10708573 ; - oboInOwl:hasDbXref UMLS:C1425285 ; oboInOwl:hasExactSynonym "ARL6IP4", "adp-ribosylation factor-like gtpase 6-interacting protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51329 ; - skos:exactMatch HGNC_symbol:ARL6IP4 ; + skos:exactMatch UMLS:C1425285, + HGNC:18076, + HGNC_symbol:ARL6IP4 ; biolink:category biolink:Gene . OMIM:607669 a owl:Class ; @@ -240986,15 +249785,16 @@ OMIM:607669 a owl:Class ; PMID:8415637 ; RO:0002525 CHR:9606chr16p12.3 ; RO:0003303 OMIM:615685 ; - oboInOwl:hasDbXref UMLS:C1824208, - UMLS:C3810294 ; oboInOwl:hasExactSynonym "ARL6IP1", "adp-ribosylation factor-like gtpase 6-interacting protein 1", "arl6ip", "kiaa0069" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23204 ; - skos:exactMatch HGNC_symbol:ARL6IP1 ; + skos:exactMatch UMLS:C1824208, + UMLS:C3810294, + HGNC:697, + HGNC_symbol:ARL6IP1 ; biolink:category biolink:Gene . OMIM:607670 a owl:Class ; @@ -241002,12 +249802,13 @@ OMIM:607670 a owl:Class ; IAO:0000142 PMID:11528127, PMID:11738831, PMID:19490892 ; - oboInOwl:hasDbXref UMLS:C1422762 ; oboInOwl:hasExactSynonym "STK33", "serine/threonine protein kinase 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65975 ; - skos:exactMatch HGNC_symbol:STK33 ; + skos:exactMatch UMLS:C1422762, + HGNC:14568, + HGNC_symbol:STK33 ; biolink:category biolink:Gene . OMIM:607672 a owl:Class ; @@ -241021,14 +249822,15 @@ OMIM:607672 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:610313 ; - oboInOwl:hasDbXref UMLS:C1538472 ; oboInOwl:hasExactSynonym "CLCF1", "b-cell stimulatory factor 3", "cardiotrophin-like cytokine factor 1", "clc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23529 ; - skos:exactMatch HGNC_symbol:CLCF1 ; + skos:exactMatch UMLS:C1538472, + HGNC:17412, + HGNC_symbol:CLCF1 ; biolink:category biolink:Gene . OMIM:607673 a owl:Class ; @@ -241038,22 +249840,23 @@ OMIM:607673 a owl:Class ; PMID:12610306, PMID:18653895, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1425927 ; oboInOwl:hasExactSynonym "EDEM1", "edem", "endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 1", "kiaa0212" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9695 ; - skos:exactMatch HGNC_symbol:EDEM1 ; + skos:exactMatch UMLS:C1425927, + HGNC:18967, + HGNC_symbol:EDEM1 ; biolink:category biolink:Gene . OMIM:607674 a owl:Class ; rdfs:label "cataract, congenital, with mental impairment and dentate gyrus atrophy" ; IAO:0000142 PMID:12601720, PMID:9124809 ; - oboInOwl:hasDbXref UMLS:C1843257 ; oboInOwl:hasExactSynonym "cataract, congenital, with mental impairment and dentate gyrus atrophy" ; + skos:exactMatch UMLS:C1843257 ; biolink:category biolink:Disease . OMIM:607675 a owl:Class ; @@ -241064,14 +249867,15 @@ OMIM:607675 a owl:Class ; PMID:17707228, PMID:18806873, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1538820 ; oboInOwl:hasExactSynonym "RCOR", "corest", "kiaa0071", "rest corepressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23186 ; - skos:exactMatch HGNC_symbol:RCOR1 ; + skos:exactMatch UMLS:C1538820, + HGNC:17441, + HGNC_symbol:RCOR1 ; biolink:category biolink:Gene . OMIM:607677 a owl:Class ; @@ -241080,18 +249884,17 @@ OMIM:607677 a owl:Class ; PMID:11835375, PMID:14638973, PMID:9595994 ; - oboInOwl:hasDbXref UMLS:C3888087 ; oboInOwl:hasExactSynonym "CMT2I", "charcot-marie-tooth disease, axonal, iia 2i", "charcot-marie-tooth neuropathy, iia 2i" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3888087 ; biolink:category biolink:Disease . OMIM:607678 a owl:Class ; rdfs:label "charcot-marie-tooth disease, demyelinating, iia 1d" ; IAO:0000142 PMID:12525712, PMID:9537424 ; - oboInOwl:hasDbXref UMLS:C1843247 ; oboInOwl:hasExactSynonym "CMT1D", "charcot-marie-tooth disease, demyelinating, iia 1d", "charcot-marie-tooth neuropathy, iia 1d", @@ -241099,6 +249902,7 @@ OMIM:607678 a owl:Class ; "hmsn 1d", "hmsn1d" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1843247 ; biolink:category biolink:Disease . OMIM:607679 a owl:Class ; @@ -241108,13 +249912,14 @@ OMIM:607679 a owl:Class ; PMID:21532034, PMID:24508479, PMID:31019307 ; - oboInOwl:hasDbXref UMLS:C1426080 ; oboInOwl:hasExactSynonym "DOCK4", "dedicator of cytokinesis 4", "kiaa0716" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9732 ; - skos:exactMatch HGNC_symbol:DOCK4 ; + skos:exactMatch UMLS:C1426080, + HGNC:19192, + HGNC_symbol:DOCK4 ; biolink:category biolink:Gene . OMIM:607680 a owl:Class ; @@ -241122,14 +249927,15 @@ OMIM:607680 a owl:Class ; IAO:0000142 PMID:12200228, PMID:12654245, PMID:15781263 ; - oboInOwl:hasDbXref UMLS:C1424977 ; oboInOwl:hasExactSynonym "ZNF363", "androgen receptor n-terminal domain-interacting protein", "p53-induced protein, ring-h2 domain-containing", "zinc finger protein 363" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25898 ; - skos:exactMatch HGNC_symbol:RCHY1 ; + skos:exactMatch UMLS:C1424977, + HGNC:17479, + HGNC_symbol:RCHY1 ; biolink:category biolink:Gene . OMIM:607683 a owl:Class ; @@ -241137,11 +249943,11 @@ OMIM:607683 a owl:Class ; IAO:0000142 PMID:12522684, PMID:18312703 ; RO:0002525 CHR:9606chr5q31.1-q32 ; - oboInOwl:hasDbXref UMLS:C1843232 ; oboInOwl:hasExactSynonym "DFNA52", "deafness, autosomal dominant 42", "deafness, autosomal dominant 52" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1843232 ; biolink:category biolink:Disease . OMIM:607686 a owl:Class ; @@ -241150,14 +249956,15 @@ OMIM:607686 a owl:Class ; PMID:12808148, PMID:16690743, PMID:7736590 ; - oboInOwl:hasDbXref UMLS:C1426030, - UMLS:C1868219 ; oboInOwl:hasExactSynonym "FIP1L1", "fip1-like 1", "fip1l1/pdgfra fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81608 ; - skos:exactMatch HGNC_symbol:FIP1L1 ; + skos:exactMatch UMLS:C1426030, + UMLS:C1868219, + HGNC:19124, + HGNC_symbol:FIP1L1 ; biolink:category biolink:Gene . OMIM:607689 a owl:Class ; @@ -241175,14 +249982,15 @@ OMIM:607690 a owl:Class ; PMID:8599108 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:246700 ; - oboInOwl:hasDbXref UMLS:C1419816 ; oboInOwl:hasExactSynonym "SAR1B", "sar1, s. cerevisiae, homolog B", "sar1a, s. cerevisiae, homolog 2", "secretion-associated ras-related gtpase 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51128 ; - skos:exactMatch HGNC_symbol:SAR1B ; + skos:exactMatch UMLS:C1419816, + HGNC:10535, + HGNC_symbol:SAR1B ; biolink:category biolink:Gene . OMIM:607691 a owl:Class ; @@ -241190,14 +249998,15 @@ OMIM:607691 a owl:Class ; IAO:0000142 PMID:10871277, PMID:12450215, PMID:12692552 ; - oboInOwl:hasDbXref UMLS:C1419815 ; oboInOwl:hasExactSynonym "SAR1A", "sar1, s. cerevisiae, homolog of, a", "sar1a, s. cerevisiae, homolog of, 1", "secretion-associated ras-related gtpase 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56681 ; - skos:exactMatch HGNC_symbol:SAR1A ; + skos:exactMatch UMLS:C1419815, + HGNC:10534, + HGNC_symbol:SAR1A ; biolink:category biolink:Gene . OMIM:607692 a owl:Class ; @@ -241214,27 +250023,29 @@ OMIM:607693 a owl:Class ; PMID:29882503 ; RO:0002525 CHR:9606chr9q22.2 ; RO:0003303 OMIM:609698 ; - oboInOwl:hasDbXref UMLS:C1539743 ; oboInOwl:hasExactSynonym "SECISBP2", "secis-binding protein 2", "selenocysteine insertion sequence-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79048 ; - skos:exactMatch HGNC_symbol:SECISBP2 ; + skos:exactMatch UMLS:C1539743, + HGNC:30972, + HGNC_symbol:SECISBP2 ; biolink:category biolink:Gene . OMIM:607695 a owl:Class ; rdfs:label "EEFSEC" ; IAO:0000142 PMID:10970870, PMID:12667458 ; - oboInOwl:hasDbXref UMLS:C1539330 ; oboInOwl:hasExactSynonym "EEFSEC", "efsec", "eukaryotic elongation factor, selenocysteine-trna-specific", "selenoprotein translation factor selb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60678 ; - skos:exactMatch HGNC_symbol:EEFSEC ; + skos:exactMatch UMLS:C1539330, + HGNC:24614, + HGNC_symbol:EEFSEC ; biolink:category biolink:Gene . OMIM:607696 a owl:Class ; @@ -241250,14 +250061,15 @@ OMIM:607696 a owl:Class ; PMID:24608321 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:606943 ; - oboInOwl:hasDbXref UMLS:C1424214 ; oboInOwl:hasExactSynonym "USH1G", "scaffold protein containing ankyrin repeats and sam domain", "ush1 protein network component sans", "ush1g gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124590 ; - skos:exactMatch HGNC_symbol:USH1G ; + skos:exactMatch UMLS:C1424214, + HGNC:16356, + HGNC_symbol:USH1G ; biolink:category biolink:Gene . OMIM:607697 a owl:Class ; @@ -241273,14 +250085,15 @@ OMIM:607697 a owl:Class ; PMID:9521281 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:604563 ; - oboInOwl:hasDbXref UMLS:C1539727 ; oboInOwl:hasExactSynonym "SBF2", "kiaa1766", "myotubularin-related 13", "set-binding factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81846 ; - skos:exactMatch HGNC_symbol:SBF2 ; + skos:exactMatch UMLS:C1539727, + HGNC:2135, + HGNC_symbol:SBF2 ; biolink:category biolink:Gene . OMIM:607698 a owl:Class ; @@ -241290,8 +250103,6 @@ OMIM:607698 a owl:Class ; PMID:12560079, PMID:24550272, PMID:29628311 ; - oboInOwl:hasDbXref UMLS:C1825801, - UMLS:C4692877 ; oboInOwl:hasExactSynonym "LCOR", "chromosome 10 open reading frame 12", "kiaa1795", @@ -241300,7 +250111,10 @@ OMIM:607698 a owl:Class ; "prc2-associated lcor isoform 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84458 ; - skos:exactMatch HGNC_symbol:LCOR ; + skos:exactMatch UMLS:C1825801, + UMLS:C4692877, + HGNC:29503, + HGNC_symbol:LCOR ; biolink:category biolink:Gene . OMIM:607699 a owl:Class ; @@ -241312,13 +250126,14 @@ OMIM:607699 a owl:Class ; PMID:22231558, PMID:27626380, PMID:32499641 ; - oboInOwl:hasDbXref UMLS:C1419420 ; oboInOwl:hasExactSynonym "RNF20", "bre1, s. cerevisiae, homolog of, a", "ring finger protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56254 ; - skos:exactMatch HGNC_symbol:RNF20 ; + skos:exactMatch UMLS:C1419420, + HGNC:10062, + HGNC_symbol:RNF20 ; biolink:category biolink:Gene . OMIM:607700 a owl:Class ; @@ -241326,7 +250141,6 @@ OMIM:607700 a owl:Class ; IAO:0000142 PMID:12121982, PMID:12535538, PMID:12535539 ; - oboInOwl:hasDbXref UMLS:C1424605 ; oboInOwl:hasExactSynonym "RNF40", "bre1, s. cerevisiae, homolog of, B", "kiaa0661", @@ -241335,7 +250149,9 @@ OMIM:607700 a owl:Class ; "syntaxin 1-interacting ring finger protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9810 ; - skos:exactMatch HGNC_symbol:RNF40 ; + skos:exactMatch UMLS:C1424605, + HGNC:16867, + HGNC_symbol:RNF40 ; biolink:category biolink:Gene . OMIM:607701 a owl:Class ; @@ -241345,14 +250161,15 @@ OMIM:607701 a owl:Class ; PMID:9655184 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:615731 ; - oboInOwl:hasDbXref UMLS:C1424626 ; oboInOwl:hasExactSynonym "KLHL41", "kelch repeat- and btb/poz domain-containing protein 10", "kelch-like 41", "sarcosin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10324 ; - skos:exactMatch HGNC_symbol:KLHL41 ; + skos:exactMatch UMLS:C1424626, + HGNC:16905, + HGNC_symbol:KLHL41 ; biolink:category biolink:Gene . OMIM:607702 a owl:Class ; @@ -241360,14 +250177,15 @@ OMIM:607702 a owl:Class ; IAO:0000142 PMID:11056052, PMID:17178857, PMID:19684084 ; - oboInOwl:hasDbXref UMLS:C1413028 ; oboInOwl:hasExactSynonym "TCIM", "chromosome 8 open reading frame 4", "thyroid cancer 1", "transcriptional and immune response regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56892 ; - skos:exactMatch HGNC_symbol:TCIM ; + skos:exactMatch UMLS:C1413028, + HGNC:1357, + HGNC_symbol:TCIM ; biolink:category biolink:Gene . OMIM:607703 a owl:Class ; @@ -241375,14 +250193,15 @@ OMIM:607703 a owl:Class ; IAO:0000142 PMID:10048485, PMID:10469352, PMID:8672508 ; - oboInOwl:hasDbXref UMLS:C1538503 ; oboInOwl:hasExactSynonym "NUP210", "gp210", "kiaa0906", "nucleoporin, 210-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23225 ; - skos:exactMatch HGNC_symbol:NUP210 ; + skos:exactMatch UMLS:C1538503, + HGNC:30052, + HGNC_symbol:NUP210 ; biolink:category biolink:Gene . OMIM:607704 a owl:Class ; @@ -241394,7 +250213,6 @@ OMIM:607704 a owl:Class ; PMID:8724849 ; RO:0002525 CHR:9606chr9p24.3 ; RO:0003303 OMIM:612900 ; - oboInOwl:hasDbXref UMLS:C1426156 ; oboInOwl:hasExactSynonym "KANK1", "ankyrin repeat domain-containing protein 15", "kiaa0172", @@ -241402,21 +250220,24 @@ OMIM:607704 a owl:Class ; "kn motif- and ankyrin repeat domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23189 ; - skos:exactMatch HGNC_symbol:KANK1 ; + skos:exactMatch UMLS:C1426156, + HGNC:19309, + HGNC_symbol:KANK1 ; biolink:category biolink:Gene . OMIM:607705 a owl:Class ; rdfs:label "PSME4" ; IAO:0000142 PMID:12093752, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1427045 ; oboInOwl:hasExactSynonym "PSME4", "kiaa0077", "proteasome activator subunit 4", "proteasome activator, 200-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23198 ; - skos:exactMatch HGNC_symbol:PSME4 ; + skos:exactMatch UMLS:C1427045, + HGNC:20635, + HGNC_symbol:PSME4 ; biolink:category biolink:Gene . OMIM:607706 a owl:Class ; @@ -241424,12 +250245,12 @@ OMIM:607706 a owl:Class ; IAO:0000142 PMID:10815126, PMID:11743580, PMID:12821518 ; - oboInOwl:hasDbXref UMLS:C1843183 ; oboInOwl:hasExactSynonym "charcot-marie-tooth disease, iia 4a, axonal form", "charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive", "charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive", "cmt2 with vocal cord paresis, autosomal recessive" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1843183 ; biolink:category biolink:Disease . OMIM:607707 a owl:Class ; @@ -241445,13 +250266,14 @@ OMIM:607707 a owl:Class ; PMID:9060999 ; RO:0002525 CHR:9606chr7p13 ; RO:0003303 OMIM:617799 ; - oboInOwl:hasDbXref UMLS:C1413100, - UMLS:C4540484 ; oboInOwl:hasExactSynonym "CAMK2B", "calcium/calmodulin-dependent protein kinase ii-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:816 ; - skos:exactMatch HGNC_symbol:CAMK2B ; + skos:exactMatch UMLS:C1413100, + UMLS:C4540484, + HGNC:1461, + HGNC_symbol:CAMK2B ; biolink:category biolink:Gene . OMIM:607708 a owl:Class ; @@ -241462,12 +250284,13 @@ OMIM:607708 a owl:Class ; PMID:15652482, PMID:15793582, PMID:9060999 ; - oboInOwl:hasDbXref UMLS:C1413101 ; oboInOwl:hasExactSynonym "CAMK2D", "calcium/calmodulin-dependent protein kinase ii-delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:817 ; - skos:exactMatch HGNC_symbol:CAMK2D ; + skos:exactMatch UMLS:C1413101, + HGNC:1462, + HGNC_symbol:CAMK2D ; biolink:category biolink:Gene . OMIM:607709 a owl:Class ; @@ -241486,27 +250309,29 @@ OMIM:607709 a owl:Class ; PMID:8824195 ; RO:0002525 CHR:9606chr9q21.11 ; RO:0003303 OMIM:607748 ; - oboInOwl:hasDbXref UMLS:C1420745 ; oboInOwl:hasExactSynonym "TJP2", "tight junction protein 2", "zona occludens 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9414 ; - skos:exactMatch HGNC_symbol:TJP2 ; + skos:exactMatch UMLS:C1420745, + HGNC:11828, + HGNC_symbol:TJP2 ; biolink:category biolink:Gene . OMIM:607710 a owl:Class ; rdfs:label "FAM189A2" ; IAO:0000142 PMID:20602916, PMID:7951235 ; - oboInOwl:hasDbXref UMLS:C1428413 ; oboInOwl:hasExactSynonym "FAM189A2", "chromosome 9 open reading frame 61", "family with sequence similarity 189, member a2", "x123 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9413 ; - skos:exactMatch HGNC_symbol:FAM189A2 ; + skos:exactMatch UMLS:C1428413, + HGNC:24820, + HGNC_symbol:FAM189A2 ; biolink:category biolink:Gene . OMIM:607711 a owl:Class ; @@ -241514,7 +250339,6 @@ OMIM:607711 a owl:Class ; IAO:0000142 PMID:12137943, PMID:17236128, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1824937 ; oboInOwl:hasExactSynonym "DIP2A", "dip2", "disco-interacting protein 2 homolog a", @@ -241522,33 +250346,37 @@ OMIM:607711 a owl:Class ; "kiaa0184" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23181 ; - skos:exactMatch HGNC_symbol:DIP2A ; + skos:exactMatch UMLS:C1824937, + HGNC:17217, + HGNC_symbol:DIP2A ; biolink:category biolink:Gene . OMIM:607712 a owl:Class ; rdfs:label "HIC2" ; IAO:0000142 PMID:10470851, PMID:11554746 ; - oboInOwl:hasDbXref UMLS:C1425633 ; oboInOwl:hasExactSynonym "HIC2", "hic1-related gene on chromosome 22", "hypermethylated 1n cancer 2", "kiaa1020" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23119 ; - skos:exactMatch HGNC_symbol:HIC2 ; + skos:exactMatch UMLS:C1425633, + HGNC:18595, + HGNC_symbol:HIC2 ; biolink:category biolink:Gene . OMIM:607713 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:11342666, PMID:12322897 ; - oboInOwl:hasDbXref UMLS:C1825295 ; oboInOwl:hasExactSynonym "killer-specific secretory protein, 37-kd", "ksp37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83888 ; - skos:exactMatch HGNC_symbol:FGFBP2 ; + skos:exactMatch UMLS:C1825295, + HGNC:29451, + HGNC_symbol:FGFBP2 ; biolink:category biolink:Gene . OMIM:607714 a owl:Class ; @@ -241557,7 +250385,6 @@ OMIM:607714 a owl:Class ; PMID:15722346, PMID:19060883, PMID:9923610 ; - oboInOwl:hasDbXref UMLS:C1424624 ; oboInOwl:hasExactSynonym "TNIP1", "a20-binding inhibitor of nfkb 1", "kiaa0113", @@ -241565,7 +250392,9 @@ OMIM:607714 a owl:Class ; "tnfaip3-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10318 ; - skos:exactMatch HGNC_symbol:TNIP1 ; + skos:exactMatch UMLS:C1424624, + HGNC:16903, + HGNC_symbol:TNIP1 ; biolink:category biolink:Gene . OMIM:607715 a owl:Class ; @@ -241573,13 +250402,14 @@ OMIM:607715 a owl:Class ; IAO:0000142 PMID:10488076, PMID:8651929, PMID:9022669 ; - oboInOwl:hasDbXref UMLS:C1540073 ; oboInOwl:hasExactSynonym "TSC22D1", "tsc22", "tsc22 domain family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8848 ; - skos:exactMatch HGNC_symbol:TSC22D1 ; + skos:exactMatch UMLS:C1540073, + HGNC:16826, + HGNC_symbol:TSC22D1 ; biolink:category biolink:Gene . OMIM:607716 a owl:Class ; @@ -241587,13 +250417,14 @@ OMIM:607716 a owl:Class ; IAO:0000142 PMID:10718198, PMID:11171101, PMID:11543631 ; - oboInOwl:hasDbXref UMLS:C1423090 ; oboInOwl:hasExactSynonym "SYT13", "kiaa1427", "synaptotagmin 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57586 ; - skos:exactMatch HGNC_symbol:SYT13 ; + skos:exactMatch UMLS:C1423090, + HGNC:14962, + HGNC_symbol:SYT13 ; biolink:category biolink:Gene . OMIM:607717 a owl:Class ; @@ -241604,7 +250435,6 @@ OMIM:607717 a owl:Class ; PMID:16688531, PMID:21527831, PMID:22019427 ; - oboInOwl:hasDbXref UMLS:C1426374 ; oboInOwl:hasExactSynonym "TNS2", "c1ten", "kiaa1075", @@ -241612,56 +250442,62 @@ OMIM:607717 a owl:Class ; "tensin-like c1 domain-containing phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23371 ; - skos:exactMatch HGNC_symbol:TNS2 ; + skos:exactMatch UMLS:C1426374, + HGNC:19737, + HGNC_symbol:TNS2 ; biolink:category biolink:Gene . OMIM:607718 a owl:Class ; rdfs:label "SYT6" ; IAO:0000142 PMID:7791877 ; - oboInOwl:hasDbXref UMLS:C1425668 ; oboInOwl:hasExactSynonym "SYT6", "synaptotagmin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148281 ; - skos:exactMatch HGNC_symbol:SYT6 ; + skos:exactMatch UMLS:C1425668, + HGNC:18638, + HGNC_symbol:SYT6 ; biolink:category biolink:Gene . OMIM:607719 a owl:Class ; rdfs:label "SYT8" ; IAO:0000142 PMID:7791877 ; - oboInOwl:hasDbXref UMLS:C1426129 ; oboInOwl:hasExactSynonym "SYT8", "synaptotagmin 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90019 ; - skos:exactMatch HGNC_symbol:SYT8 ; + skos:exactMatch UMLS:C1426129, + HGNC:19264, + HGNC_symbol:SYT8 ; biolink:category biolink:Gene . OMIM:607720 a owl:Class ; rdfs:label "TSNAXIP1" ; IAO:0000142 PMID:12036294 ; - oboInOwl:hasDbXref UMLS:C1425624 ; oboInOwl:hasExactSynonym "TSNAXIP1", "translin-associated factor x-interacting protein 1", "trax-interacting protein 1", "tsnax-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55815 ; - skos:exactMatch HGNC_symbol:TSNAXIP1 ; + skos:exactMatch UMLS:C1425624, + HGNC:18586, + HGNC_symbol:TSNAXIP1 ; biolink:category biolink:Gene . OMIM:607722 a owl:Class ; rdfs:label "EMC2" ; IAO:0000142 PMID:11593002, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1823539 ; oboInOwl:hasExactSynonym "EMC2", "endoplasmic reticulum membrane protein complex, subunit 2", "er membrane protein complex, subunit 2", "kiaa0103" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9694 ; - skos:exactMatch HGNC_symbol:EMC2 ; + skos:exactMatch UMLS:C1823539, + HGNC:28963, + HGNC_symbol:EMC2 ; biolink:category biolink:Gene . OMIM:607723 a owl:Class ; @@ -241677,7 +250513,6 @@ OMIM:607723 a owl:Class ; PMID:22541428, PMID:23348741, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1425625 ; oboInOwl:hasExactSynonym "SUN1", "kiaa0810", "sad1 and unc84 domain-containing protein 1", @@ -241685,18 +250520,21 @@ OMIM:607723 a owl:Class ; "unc84, c. elegans, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23353 ; - skos:exactMatch HGNC_symbol:SUN1 ; + skos:exactMatch UMLS:C1425625, + HGNC:18587, + HGNC_symbol:SUN1 ; biolink:category biolink:Gene . OMIM:607724 a owl:Class ; rdfs:label "CAPS2" ; IAO:0000142 PMID:11846421 ; - oboInOwl:hasDbXref UMLS:C1424306 ; oboInOwl:hasExactSynonym "CAPS2", "calcyphosine 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84698 ; - skos:exactMatch HGNC_symbol:CAPS2 ; + skos:exactMatch UMLS:C1424306, + HGNC:16471, + HGNC_symbol:CAPS2 ; biolink:category biolink:Gene . OMIM:607725 a owl:Class ; @@ -241709,28 +250547,30 @@ OMIM:607725 a owl:Class ; PMID:17001008, PMID:32028527, PMID:32939087 ; - oboInOwl:hasDbXref UMLS:C1538580 ; oboInOwl:hasExactSynonym "PARP2", "adp-ribosyltransferase 2", "adp-ribosyltransferase-like 2", "poly(adp-ribose) polymerase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10038 ; - skos:exactMatch HGNC_symbol:PARP2 ; + skos:exactMatch UMLS:C1538580, + HGNC:272, + HGNC_symbol:PARP2 ; biolink:category biolink:Gene . OMIM:607726 a owl:Class ; rdfs:label "PARP3" ; IAO:0000142 PMID:10329013, PMID:12640039 ; - oboInOwl:hasDbXref UMLS:C1538581 ; oboInOwl:hasExactSynonym "PARP3", "adp-ribosyltransferase-like 3", "poly(adp-ribose) polymerase 3", "poly(adp-ribose) polymerase family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10039 ; - skos:exactMatch HGNC_symbol:PARP3 ; + skos:exactMatch UMLS:C1538581, + HGNC:273, + HGNC_symbol:PARP3 ; biolink:category biolink:Gene . OMIM:607727 a owl:Class ; @@ -241740,7 +250580,6 @@ OMIM:607727 a owl:Class ; PMID:12504026, PMID:16036220, PMID:8954946 ; - oboInOwl:hasDbXref UMLS:C1824525 ; oboInOwl:hasExactSynonym "CAND1", "cullin-associated neddylation-dissociated protein 1", "kiaa0829", @@ -241750,7 +250589,9 @@ OMIM:607727 a owl:Class ; "tip120a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55832 ; - skos:exactMatch HGNC_symbol:CAND1 ; + skos:exactMatch UMLS:C1824525, + HGNC:30688, + HGNC_symbol:CAND1 ; biolink:category biolink:Gene . OMIM:607729 a owl:Class ; @@ -241760,27 +250601,29 @@ OMIM:607729 a owl:Class ; PMID:15545626, PMID:20473305, PMID:21258409 ; - oboInOwl:hasDbXref UMLS:C1428430 ; oboInOwl:hasExactSynonym "DDIT4", "DNA damage-inducible transcript 4", "hif1-responsive protein rtp801", "regulated 1n development and DNA damage responses 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54541 ; - skos:exactMatch HGNC_symbol:DDIT4 ; + skos:exactMatch UMLS:C1428430, + HGNC:24944, + HGNC_symbol:DDIT4 ; biolink:category biolink:Gene . OMIM:607730 a owl:Class ; rdfs:label "DDIT4L" ; IAO:0000142 PMID:12453409, PMID:15545626 ; - oboInOwl:hasDbXref UMLS:C1428982 ; oboInOwl:hasExactSynonym "DDIT4L", "DNA damage-inducible transcript 4-like", "regulated 1n development and DNA damage responses 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115265 ; - skos:exactMatch HGNC_symbol:DDIT4L ; + skos:exactMatch UMLS:C1428982, + HGNC:30555, + HGNC_symbol:DDIT4L ; biolink:category biolink:Gene . OMIM:607732 a owl:Class ; @@ -241792,14 +250635,15 @@ OMIM:607732 a owl:Class ; PMID:30842236, PMID:31439792, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1424724 ; oboInOwl:hasExactSynonym "SARM1", "kiaa0524", "sterile alpha and heat/armadillo motifs-containing protein", "sterile alpha and tir motifs-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23098 ; - skos:exactMatch HGNC_symbol:SARM1 ; + skos:exactMatch UMLS:C1424724, + HGNC:17074, + HGNC_symbol:SARM1 ; biolink:category biolink:Gene . OMIM:607733 a owl:Class ; @@ -241816,7 +250660,6 @@ OMIM:607733 a owl:Class ; PMID:24140112, PMID:29282252, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1539732 ; oboInOwl:hasExactSynonym "SCRIB", "circletail, mouse, homolog of", "kiaa0147", @@ -241825,7 +250668,9 @@ OMIM:607733 a owl:Class ; "scribble, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23513 ; - skos:exactMatch HGNC_symbol:SCRIB ; + skos:exactMatch UMLS:C1539732, + HGNC:30377, + HGNC_symbol:SCRIB ; biolink:category biolink:Gene . OMIM:607734 a owl:Class ; @@ -241833,25 +250678,26 @@ OMIM:607734 a owl:Class ; IAO:0000142 PMID:12566280, PMID:19158810, PMID:20039262 ; - oboInOwl:hasDbXref UMLS:C1843164, - ORPHA:101085, - ORPHA:228374 ; oboInOwl:hasExactSynonym "CMT1F", "charcot-marie-tooth disease, demyelinating, iia 1f", "charcot-marie-tooth neuropathy, iia 1f" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1843164, + ORPHA:101085, + ORPHA:228374 ; biolink:category biolink:Disease . OMIM:607735 a owl:Class ; rdfs:label "PGRMC2" ; IAO:0000142 PMID:31748741, PMID:9705155 ; - oboInOwl:hasDbXref UMLS:C1423970 ; oboInOwl:hasExactSynonym "PGRMC2", "progesterone receptor membrane component 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10424 ; - skos:exactMatch HGNC_symbol:PGRMC2 ; + skos:exactMatch UMLS:C1423970, + HGNC:16089, + HGNC_symbol:PGRMC2 ; biolink:category biolink:Gene . OMIM:607736 a owl:Class ; @@ -241863,19 +250709,18 @@ OMIM:607736 a owl:Class ; PMID:15326256, PMID:16775239, PMID:17663472 ; - oboInOwl:hasDbXref UMLS:C1843153 ; oboInOwl:hasExactSynonym "CMT2J", "charcot-marie-tooth disease, iia 2, with hearing loss and pupillary abnormalities", "charcot-marie-tooth disease, axonal, iia 2j", "charcot-marie-tooth neuropathy, iia 2j" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1843153 ; biolink:category biolink:Disease . OMIM:607737 a owl:Class ; rdfs:label "FGFBP1" ; IAO:0000142 PMID:11148217, PMID:1885605 ; - oboInOwl:hasDbXref UMLS:C1539517 ; oboInOwl:hasExactSynonym "FGFBP1", "fgf-binding protein 1", "fibroblast growth factor-binding protein 1", @@ -241883,20 +250728,23 @@ OMIM:607737 a owl:Class ; "heparin-binding growth factor-binding protein, 17-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9982 ; - skos:exactMatch HGNC_symbol:FGFBP1 ; + skos:exactMatch UMLS:C1539517, + HGNC:19695, + HGNC_symbol:FGFBP1 ; biolink:category biolink:Gene . OMIM:607738 a owl:Class ; rdfs:label "KCNB2" ; IAO:0000142 PMID:8824288, PMID:9612272 ; - oboInOwl:hasDbXref UMLS:C1416555 ; oboInOwl:hasExactSynonym "KCNB2", "kv2.2", "potassium channel, voltage-gated, shab-related subfamily, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9312 ; - skos:exactMatch HGNC_symbol:KCNB2 ; + skos:exactMatch UMLS:C1416555, + HGNC:6232, + HGNC_symbol:KCNB2 ; biolink:category biolink:Gene . OMIM:607739 a owl:Class ; @@ -241907,32 +250755,33 @@ OMIM:607740 a owl:Class ; rdfs:label "USP32" ; IAO:0000142 PMID:10508479, PMID:12604796 ; - oboInOwl:hasDbXref UMLS:C1426039 ; oboInOwl:hasExactSynonym "USP32", "ny-ren-60", "ubiquitin-specific protease 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84669 ; - skos:exactMatch HGNC_symbol:USP32 ; + skos:exactMatch UMLS:C1426039, + HGNC:19143, + HGNC_symbol:USP32 ; biolink:category biolink:Gene . OMIM:607741 a owl:Class ; rdfs:label "TBC1D3" ; IAO:0000142 PMID:12604796, PMID:16863688 ; - oboInOwl:hasDbXref UMLS:C1425967 ; oboInOwl:hasExactSynonym "TBC1D3", "tbc1 domain family, member 3", "tbc1d3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729873 ; - skos:exactMatch HGNC_symbol:TBC1D3 ; + skos:exactMatch UMLS:C1425967, + HGNC:19031, + HGNC_symbol:TBC1D3 ; biolink:category biolink:Gene . OMIM:607742 a owl:Class ; rdfs:label "KRT24" ; IAO:0000142 PMID:12230514 ; - oboInOwl:hasDbXref UMLS:C1425578 ; oboInOwl:hasExactSynonym "KRT24", "flj20261", "k24", @@ -241940,7 +250789,9 @@ OMIM:607742 a owl:Class ; "keratin 24, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:192666 ; - skos:exactMatch HGNC_symbol:KRT24 ; + skos:exactMatch UMLS:C1425578, + HGNC:18527, + HGNC_symbol:KRT24 ; biolink:category biolink:Gene . OMIM:607743 a owl:Class ; @@ -241951,7 +250802,6 @@ OMIM:607743 a owl:Class ; PMID:16239343, PMID:9182757, PMID:9660748 ; - oboInOwl:hasDbXref UMLS:C1333578 ; oboInOwl:hasExactSynonym "FRS2", "fgfr substrate 2", "fibroblast growth factor receptor substrate 2", @@ -241959,13 +250809,14 @@ OMIM:607743 a owl:Class ; "suc1-associated neurotrophic factor target 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10818 ; - skos:exactMatch HGNC_symbol:FRS2 ; + skos:exactMatch UMLS:C1333578, + HGNC:16971, + HGNC_symbol:FRS2 ; biolink:category biolink:Gene . OMIM:607744 a owl:Class ; rdfs:label "FRS3" ; IAO:0000142 PMID:9660748 ; - oboInOwl:hasDbXref UMLS:C1333579 ; oboInOwl:hasExactSynonym "FRS3", "fgfr substrate 3", "fibroblast growth factor receptor substrate 3", @@ -241973,7 +250824,9 @@ OMIM:607744 a owl:Class ; "suc1-associated neurotrophic factor target 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10817 ; - skos:exactMatch HGNC_symbol:FRS3 ; + skos:exactMatch UMLS:C1333579, + HGNC:16970, + HGNC_symbol:FRS3 ; biolink:category biolink:Gene . OMIM:607746 a owl:Class ; @@ -241984,7 +250837,6 @@ OMIM:607746 a owl:Class ; PMID:12789646, PMID:8175911, PMID:9298900 ; - oboInOwl:hasDbXref UMLS:C1423716 ; oboInOwl:hasExactSynonym "FERMT2", "fermitin family, member 2", "kindlin 2", @@ -241993,33 +250845,37 @@ OMIM:607746 a owl:Class ; "unc112, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10979 ; - skos:exactMatch HGNC_symbol:FERMT2 ; + skos:exactMatch UMLS:C1423716, + HGNC:15767, + HGNC_symbol:FERMT2 ; biolink:category biolink:Gene . OMIM:607747 a owl:Class ; rdfs:label "FBLIM1" ; IAO:0000142 PMID:12496242, PMID:12679033 ; - oboInOwl:hasDbXref UMLS:C1825283 ; oboInOwl:hasExactSynonym "FBLIM1", "fblp1", "filamin-binding 51m protein 1", "mig2- and filamin-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54751 ; - skos:exactMatch HGNC_symbol:FBLIM1 ; + skos:exactMatch UMLS:C1825283, + HGNC:24686, + HGNC_symbol:FBLIM1 ; biolink:category biolink:Gene . OMIM:607749 a owl:Class ; rdfs:label "CDCA3" ; IAO:0000142 PMID:12679038 ; - oboInOwl:hasDbXref UMLS:C1422796 ; oboInOwl:hasExactSynonym "CDCA3", "cell division cycle-associated protein 3", "trigger of mitotic entry 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83461 ; - skos:exactMatch HGNC_symbol:CDCA3 ; + skos:exactMatch UMLS:C1422796, + HGNC:14624, + HGNC_symbol:CDCA3 ; biolink:category biolink:Gene . OMIM:607750 a owl:Class ; @@ -242028,13 +250884,14 @@ OMIM:607750 a owl:Class ; PMID:12453430, PMID:18403710, PMID:19581596 ; - oboInOwl:hasDbXref UMLS:C1424926 ; oboInOwl:hasExactSynonym "APOBEC3C", "a3c", "apolipoprotein B mrna-editing enzyme, catalytic polypeptide-like 3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27350 ; - skos:exactMatch HGNC_symbol:APOBEC3C ; + skos:exactMatch UMLS:C1424926, + HGNC:17353, + HGNC_symbol:APOBEC3C ; biolink:category biolink:Gene . OMIM:607751 a owl:Class ; @@ -242049,7 +250906,6 @@ OMIM:607751 a owl:Class ; PMID:19628819 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:171200 ; - oboInOwl:hasDbXref UMLS:C1419055 ; oboInOwl:hasExactSynonym "TAS2R38", "ptc", "t2r61", @@ -242057,7 +250913,9 @@ OMIM:607751 a owl:Class ; "transforming growth factor beta-stimulated clone 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5726 ; - skos:exactMatch HGNC_symbol:TAS2R38 ; + skos:exactMatch UMLS:C1419055, + HGNC:9584, + HGNC_symbol:TAS2R38 ; biolink:category biolink:Gene . OMIM:607752 a owl:Class ; @@ -242070,15 +250928,16 @@ OMIM:607752 a owl:Class ; PMID:8598223 ; RO:0002525 CHR:9606chr5q11.2 ; RO:0003303 OMIM:615872 ; - oboInOwl:hasDbXref UMLS:C1425614, - UMLS:C4014534 ; oboInOwl:hasExactSynonym "CCNO", "cyclin o", "uracil-dna glycosylase 2", "uracil-dna glycosylase, cyclin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10309 ; - skos:exactMatch HGNC_symbol:CCNO ; + skos:exactMatch UMLS:C1425614, + UMLS:C4014534, + HGNC:18576, + HGNC_symbol:CCNO ; biolink:category biolink:Gene . OMIM:607753 a owl:Class ; @@ -242086,12 +250945,13 @@ OMIM:607753 a owl:Class ; IAO:0000142 PMID:10074426, PMID:11526119, PMID:12161446 ; - oboInOwl:hasDbXref UMLS:C1822794 ; oboInOwl:hasExactSynonym "single-strand-selective monofunctional uracil-dna glycosylase 1", "smug1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23583 ; - skos:exactMatch HGNC_symbol:SMUG1 ; + skos:exactMatch UMLS:C1822794, + HGNC:17148, + HGNC_symbol:SMUG1 ; biolink:category biolink:Gene . OMIM:607754 a owl:Class ; @@ -242100,33 +250960,34 @@ OMIM:607754 a owl:Class ; PMID:12721631, PMID:15805468, PMID:16882727 ; - oboInOwl:hasDbXref UMLS:C1417177 ; oboInOwl:hasExactSynonym "MKRN1", "makorin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23608 ; - skos:exactMatch HGNC_symbol:MKRN1 ; + skos:exactMatch UMLS:C1417177, + HGNC:7112, + HGNC_symbol:MKRN1 ; biolink:category biolink:Gene . OMIM:607755 a owl:Class ; rdfs:label "MAPK8IP2" ; IAO:0000142 PMID:10490659, PMID:10756100 ; - oboInOwl:hasDbXref UMLS:C1417025 ; oboInOwl:hasExactSynonym "MAPK8IP2", "islet-brain 2", "jnk-interacting protein 2", "mitogen-activated protein kinase 8-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23542 ; - skos:exactMatch HGNC_symbol:MAPK8IP2 ; + skos:exactMatch UMLS:C1417025, + HGNC:6883, + HGNC_symbol:MAPK8IP2 ; biolink:category biolink:Gene . OMIM:607756 a owl:Class ; rdfs:label "AASDHPPT" ; IAO:0000142 PMID:11286508, PMID:12712191 ; - oboInOwl:hasDbXref UMLS:C1422497 ; oboInOwl:hasExactSynonym "AASDHPPT", "aasdppt", "alpha-aminoadipate semialdehyde dehydrogenase-phosphopantetheinyl transferase", @@ -242135,14 +250996,15 @@ OMIM:607756 a owl:Class ; "lys5, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60496 ; - skos:exactMatch HGNC_symbol:AASDHPPT ; + skos:exactMatch UMLS:C1422497, + HGNC:14235, + HGNC_symbol:AASDHPPT ; biolink:category biolink:Gene . OMIM:607757 a owl:Class ; rdfs:label "CBY1" ; IAO:0000142 PMID:12712206, PMID:27528616 ; - oboInOwl:hasDbXref UMLS:C1538626 ; oboInOwl:hasExactSynonym "CBY1", "beta-catenin antagonist cby1", "chibby", @@ -242151,7 +251013,9 @@ OMIM:607757 a owl:Class ; "hs508i15a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25776 ; - skos:exactMatch HGNC_symbol:CBY1 ; + skos:exactMatch UMLS:C1538626, + HGNC:1307, + HGNC_symbol:CBY1 ; biolink:category biolink:Gene . OMIM:607758 a owl:Class ; @@ -242159,13 +251023,14 @@ OMIM:607758 a owl:Class ; IAO:0000142 PMID:10898789, PMID:12408824, PMID:12408825 ; - oboInOwl:hasDbXref UMLS:C1424630 ; oboInOwl:hasExactSynonym "CTNNBIP1", "catenin, beta-interacting protein 1", "inhibitor of beta-catenin and tcf4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56998 ; - skos:exactMatch HGNC_symbol:CTNNBIP1 ; + skos:exactMatch UMLS:C1424630, + HGNC:16913, + HGNC_symbol:CTNNBIP1 ; biolink:category biolink:Gene . OMIM:607759 a owl:Class ; @@ -242208,7 +251073,6 @@ OMIM:607759 a owl:Class ; PMID:9734640, PMID:9834222 ; RO:0002525 CHR:9606chr17q21.31 ; - oboInOwl:hasDbXref UMLS:C1416485 ; oboInOwl:hasExactSynonym "ITGA2B", "cd41b", "gp iib", @@ -242218,7 +251082,9 @@ OMIM:607759 a owl:Class ; "platelet-specific antigen bak" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3674 ; - skos:exactMatch HGNC_symbol:ITGA2B ; + skos:exactMatch UMLS:C1416485, + HGNC:6138, + HGNC_symbol:ITGA2B ; biolink:category biolink:Gene . OMIM:607760 a owl:Class ; @@ -242227,13 +251093,14 @@ OMIM:607760 a owl:Class ; PMID:15075294, PMID:9039502, PMID:9461304 ; - oboInOwl:hasDbXref UMLS:C1336660 ; oboInOwl:hasExactSynonym "DNA topoisomerase ii-binding protein 1", "TOPBP1", "kiaa0259" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11073 ; - skos:exactMatch HGNC_symbol:TOPBP1 ; + skos:exactMatch UMLS:C1336660, + HGNC:17008, + HGNC_symbol:TOPBP1 ; biolink:category biolink:Gene . OMIM:607761 a owl:Class ; @@ -242245,8 +251112,6 @@ OMIM:607761 a owl:Class ; PMID:20233749, PMID:26575286, PMID:29362445 ; - oboInOwl:hasDbXref UMLS:C1427986, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "KIRREL3", "kiaa1867", "kin of irre-like 3", @@ -242255,7 +251120,10 @@ OMIM:607761 a owl:Class ; "nephrin-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84623 ; - skos:exactMatch HGNC_symbol:KIRREL3 ; + skos:exactMatch UMLS:C1427986, + UMLS:C4015968, + HGNC:23204, + HGNC_symbol:KIRREL3 ; biolink:category biolink:Gene . OMIM:607762 a owl:Class ; @@ -242263,7 +251131,6 @@ OMIM:607762 a owl:Class ; IAO:0000142 PMID:12424224, PMID:12504092, PMID:12837264 ; - oboInOwl:hasDbXref UMLS:C1425795 ; oboInOwl:hasExactSynonym "KIRREL2", "filtrin", "kin of irre-like 2", @@ -242272,7 +251139,9 @@ OMIM:607762 a owl:Class ; "nephrin-like gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84063 ; - skos:exactMatch HGNC_symbol:KIRREL2 ; + skos:exactMatch UMLS:C1425795, + HGNC:18816, + HGNC_symbol:KIRREL2 ; biolink:category biolink:Gene . OMIM:607763 a owl:Class ; @@ -242280,14 +251149,15 @@ OMIM:607763 a owl:Class ; IAO:0000142 PMID:11062263, PMID:15525538, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1424303 ; oboInOwl:hasExactSynonym "CENTB1", "arf-gap with coiled-coil, ankyrin repeat, and pleckstrin homology domains 1", "centaurin, beta-1", "kiaa0050" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9744 ; - skos:exactMatch HGNC_symbol:ACAP1 ; + skos:exactMatch UMLS:C1424303, + HGNC:16467, + HGNC_symbol:ACAP1 ; biolink:category biolink:Gene . OMIM:607764 a owl:Class ; @@ -242297,13 +251167,14 @@ OMIM:607764 a owl:Class ; PMID:3470305 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:607765 ; - oboInOwl:hasDbXref UMLS:C1425449 ; oboInOwl:hasExactSynonym "3-beta-hydroxy-delta-5-c27-steroid oxidoreductase", "HSD3B7", "c27-3-beta-hsd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80270 ; - skos:exactMatch HGNC_symbol:HSD3B7 ; + skos:exactMatch UMLS:C1425449, + HGNC:18324, + HGNC_symbol:HSD3B7 ; biolink:category biolink:Gene . OMIM:607766 a owl:Class ; @@ -242311,14 +251182,15 @@ OMIM:607766 a owl:Class ; IAO:0000142 PMID:11001876, PMID:11062263, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1424304 ; oboInOwl:hasExactSynonym "CENTB2", "arf-gap with coiled-coil, ankyrin repeat, and pleckstrin homology domains 2", "centaurin, beta-2", "kiaa0041" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23527 ; - skos:exactMatch HGNC_symbol:ACAP2 ; + skos:exactMatch UMLS:C1424304, + HGNC:16469, + HGNC_symbol:ACAP2 ; biolink:category biolink:Gene . OMIM:607767 a owl:Class ; @@ -242328,66 +251200,71 @@ OMIM:607767 a owl:Class ; PMID:15105503, PMID:26449471, PMID:26586190 ; - oboInOwl:hasDbXref UMLS:C1427105 ; oboInOwl:hasExactSynonym "SESN2", "hypoxia-induced gene 95", "sest2", "sestrin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83667 ; - skos:exactMatch HGNC_symbol:SESN2 ; + skos:exactMatch UMLS:C1427105, + HGNC:20746, + HGNC_symbol:SESN2 ; biolink:category biolink:Gene . OMIM:607768 a owl:Class ; rdfs:label "SESN3" ; IAO:0000142 PMID:12607115 ; - oboInOwl:hasDbXref UMLS:C1427882 ; oboInOwl:hasExactSynonym "SESN3", "sest3", "sestrin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143686 ; - skos:exactMatch HGNC_symbol:SESN3 ; + skos:exactMatch UMLS:C1427882, + HGNC:23060, + HGNC_symbol:SESN3 ; biolink:category biolink:Gene . OMIM:607769 a owl:Class ; rdfs:label "PLEKHA4" ; IAO:0000142 PMID:11001876 ; - oboInOwl:hasDbXref UMLS:C1422576 ; oboInOwl:hasExactSynonym "PLEKHA4", "phosphatidylinositol 3-phosphate-binding ph domain protein 1", "pleckstrin homology domain-containing protein, family a, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57664 ; - skos:exactMatch HGNC_symbol:PLEKHA4 ; + skos:exactMatch UMLS:C1422576, + HGNC:14339, + HGNC_symbol:PLEKHA4 ; biolink:category biolink:Gene . OMIM:607770 a owl:Class ; rdfs:label "PLEKHA5" ; IAO:0000142 PMID:11001876, PMID:11214970 ; - oboInOwl:hasDbXref UMLS:C1538668 ; oboInOwl:hasExactSynonym "PLEKHA5", "kiaa1686", "phosphatidylinositol 3-phosphate-binding ph domain protein 2", "pleckstrin homology domain-containing protein, family a, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54477 ; - skos:exactMatch HGNC_symbol:PLEKHA5 ; + skos:exactMatch UMLS:C1538668, + HGNC:30036, + HGNC_symbol:PLEKHA5 ; biolink:category biolink:Gene . OMIM:607771 a owl:Class ; rdfs:label "PLEKHA6" ; IAO:0000142 PMID:10231032, PMID:11001876 ; - oboInOwl:hasDbXref UMLS:C1538669 ; oboInOwl:hasExactSynonym "PLEKHA6", "kiaa0969", "phosphatidylinositol 3-phosphate-binding ph domain protein 3", "pleckstrin homology domain-containing protein, family a, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22874 ; - skos:exactMatch HGNC_symbol:PLEKHA6 ; + skos:exactMatch UMLS:C1538669, + HGNC:17053, + HGNC_symbol:PLEKHA6 ; biolink:category biolink:Gene . OMIM:607772 a owl:Class ; @@ -242396,52 +251273,56 @@ OMIM:607772 a owl:Class ; PMID:15168325, PMID:16080115, PMID:17000705 ; - oboInOwl:hasDbXref UMLS:C1422573 ; oboInOwl:hasExactSynonym "PLEKHA1", "pleckstrin homology domain-containing protein, family a, member 1", "tandem ph domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59338 ; - skos:exactMatch HGNC_symbol:PLEKHA1 ; + skos:exactMatch UMLS:C1422573, + HGNC:14335, + HGNC_symbol:PLEKHA1 ; biolink:category biolink:Gene . OMIM:607773 a owl:Class ; rdfs:label "PLEKHA2" ; IAO:0000142 PMID:11001876 ; - oboInOwl:hasDbXref UMLS:C1422574 ; oboInOwl:hasExactSynonym "PLEKHA2", "pleckstrin homology domain-containing protein, family a, member 2", "tandem ph domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59339 ; - skos:exactMatch HGNC_symbol:PLEKHA2 ; + skos:exactMatch UMLS:C1422574, + HGNC:14336, + HGNC_symbol:PLEKHA2 ; biolink:category biolink:Gene . OMIM:607774 a owl:Class ; rdfs:label "PLEKHA3" ; IAO:0000142 PMID:11001876, PMID:15107860 ; - oboInOwl:hasDbXref UMLS:C1422575 ; oboInOwl:hasExactSynonym "PLEKHA3", "phosphatidylinositol 4-phosphate adaptor protein 1", "pleckstrin homology domain-containing protein, family a, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65977 ; - skos:exactMatch HGNC_symbol:PLEKHA3 ; + skos:exactMatch UMLS:C1422575, + HGNC:14338, + HGNC_symbol:PLEKHA3 ; biolink:category biolink:Gene . OMIM:607775 a owl:Class ; rdfs:label "KCNE4" ; IAO:0000142 PMID:12096056, PMID:12670483 ; - oboInOwl:hasDbXref UMLS:C1416567 ; oboInOwl:hasExactSynonym "KCNE4", "minimum potassium ion channel-related peptide 3", "mink-related peptide 3", "potassium channel, voltage-gated, isk-related subfamily, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23704 ; - skos:exactMatch HGNC_symbol:KCNE4 ; + skos:exactMatch UMLS:C1416567, + HGNC:6244, + HGNC_symbol:KCNE4 ; biolink:category biolink:Gene . OMIM:607776 a owl:Class ; @@ -242456,36 +251337,38 @@ OMIM:607776 a owl:Class ; PMID:7889570 ; RO:0002525 CHR:9606chr15q24.2 ; RO:0003303 OMIM:613406 ; - oboInOwl:hasDbXref UMLS:C1426185 ; oboInOwl:hasExactSynonym "SIN3A", "sin3 transcription regulator family member a", "sin3, yeast, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25942 ; - skos:exactMatch HGNC_symbol:SIN3A ; + skos:exactMatch UMLS:C1426185, + HGNC:19353, + HGNC_symbol:SIN3A ; biolink:category biolink:Gene . OMIM:607777 a owl:Class ; rdfs:label "SIN3B" ; IAO:0000142 PMID:7889570, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1426186 ; oboInOwl:hasExactSynonym "SIN3B", "kiaa0700", "sin3 transcription regulator family member B", "sin3, yeast, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23309 ; - skos:exactMatch HGNC_symbol:SIN3B ; + skos:exactMatch UMLS:C1426186, + HGNC:19354, + HGNC_symbol:SIN3B ; biolink:category biolink:Gene . OMIM:607778 a owl:Class ; rdfs:label "acrocapitofemoral dysplasia" ; IAO:0000142 PMID:12624140, PMID:12632327 ; - oboInOwl:hasDbXref UMLS:C1843096 ; oboInOwl:hasExactSynonym "ACFD", "acrocapitofemoral dysplasia" ; + skos:exactMatch UMLS:C1843096 ; biolink:category biolink:Disease . OMIM:607779 a owl:Class ; @@ -242493,14 +251376,15 @@ OMIM:607779 a owl:Class ; IAO:0000142 PMID:12601167, PMID:15589683, PMID:16044242 ; - oboInOwl:hasDbXref UMLS:C1826541 ; oboInOwl:hasExactSynonym "PAQR7", "membrane progestin receptor, alpha", "pglp, mouse, homolog of", "progestin and adipoq receptor family, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:164091 ; - skos:exactMatch HGNC_symbol:PAQR7 ; + skos:exactMatch UMLS:C1826541, + HGNC:23146, + HGNC_symbol:PAQR7 ; biolink:category biolink:Gene . OMIM:607780 a owl:Class ; @@ -242508,7 +251392,6 @@ OMIM:607780 a owl:Class ; IAO:0000142 PMID:11676489, PMID:12601167, PMID:16044242 ; - oboInOwl:hasDbXref UMLS:C1843095 ; oboInOwl:hasExactSynonym "PAQR8", "chromosome 6 open reading frame 33", "lysosomal membrane protein, brain-expressed, 1", @@ -242516,20 +251399,23 @@ OMIM:607780 a owl:Class ; "progestin and adipoq receptor family, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85315 ; - skos:exactMatch HGNC_symbol:PAQR8 ; + skos:exactMatch UMLS:C1843095, + HGNC:15708, + HGNC_symbol:PAQR8 ; biolink:category biolink:Gene . OMIM:607781 a owl:Class ; rdfs:label "PAQR5" ; IAO:0000142 PMID:12601167, PMID:16044242 ; - oboInOwl:hasDbXref UMLS:C1826540 ; oboInOwl:hasExactSynonym "PAQR5", "membrane progestin receptor, gamma", "progestin and adipoq receptor family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54852 ; - skos:exactMatch HGNC_symbol:PAQR5 ; + skos:exactMatch UMLS:C1826540, + HGNC:29645, + HGNC_symbol:PAQR5 ; biolink:category biolink:Gene . OMIM:607782 a owl:Class ; @@ -242538,13 +251424,14 @@ OMIM:607782 a owl:Class ; PMID:11170747, PMID:12730694, PMID:9735382 ; - oboInOwl:hasDbXref UMLS:C1416935 ; oboInOwl:hasExactSynonym "LUC7L", "luc7, s. cerevisiae, homolog of", "luc7-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55692 ; - skos:exactMatch HGNC_symbol:LUC7L ; + skos:exactMatch UMLS:C1416935, + HGNC:6723, + HGNC_symbol:LUC7L ; biolink:category biolink:Gene . OMIM:607783 a owl:Class ; @@ -242557,8 +251444,6 @@ OMIM:607783 a owl:Class ; PMID:7788527 ; RO:0002525 CHR:9606chr15q25.1 ; RO:0003303 OMIM:618644 ; - oboInOwl:hasDbXref UMLS:C1422033, - UMLS:C3888200 ; oboInOwl:hasExactSynonym "MESD", "boca, drosophila, homolog of", "kiaa0081", @@ -242568,7 +251453,10 @@ OMIM:607783 a owl:Class ; "mesoderm development lrp chaperone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23184 ; - skos:exactMatch HGNC_symbol:MESD ; + skos:exactMatch UMLS:C1422033, + UMLS:C3888200, + HGNC:13520, + HGNC_symbol:MESD ; biolink:category biolink:Gene . OMIM:607784 a owl:Class ; @@ -242576,13 +251464,14 @@ OMIM:607784 a owl:Class ; IAO:0000142 PMID:11606068, PMID:11856881, PMID:12137944 ; - oboInOwl:hasDbXref UMLS:C1422254 ; oboInOwl:hasExactSynonym "ABCG4", "atp-binding cassette, subfamily g, member 4", "white, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64137 ; - skos:exactMatch HGNC_symbol:ABCG4 ; + skos:exactMatch UMLS:C1422254, + HGNC:13884, + HGNC_symbol:ABCG4 ; biolink:category biolink:Gene . OMIM:607786 a owl:Class ; @@ -242614,28 +251503,30 @@ OMIM:607786 a owl:Class ; PMID:20686565 ; RO:0002525 CHR:9606chr1p32.3 ; RO:0003303 OMIM:603776 ; - oboInOwl:hasDbXref UMLS:C1426592, - UMLS:C1863551, - UMLS:C3276239 ; oboInOwl:hasExactSynonym "PCSK9", "neural apoptosis-regulated convertase 1", "proprotein convertase, subtilisin/kexin-type, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255738 ; - skos:exactMatch HGNC_symbol:PCSK9 ; + skos:exactMatch UMLS:C1426592, + UMLS:C1863551, + UMLS:C3276239, + HGNC:20001, + HGNC_symbol:PCSK9 ; biolink:category biolink:Gene . OMIM:607787 a owl:Class ; rdfs:label "GPR180" ; IAO:0000142 PMID:12538434, PMID:12730718 ; - oboInOwl:hasDbXref UMLS:C1825412 ; oboInOwl:hasExactSynonym "GPR180", "g protein-coupled receptor 180", "intimal thickness-related receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160897 ; - skos:exactMatch HGNC_symbol:GPR180 ; + skos:exactMatch UMLS:C1825412, + HGNC:28899, + HGNC_symbol:GPR180 ; biolink:category biolink:Gene . OMIM:607788 a owl:Class ; @@ -242645,25 +251536,27 @@ OMIM:607788 a owl:Class ; PMID:2463956 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:613625 ; - oboInOwl:hasDbXref UMLS:C1425524 ; oboInOwl:hasExactSynonym "MCFD2", "multiple coagulation factor deficiency protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90411 ; - skos:exactMatch HGNC_symbol:MCFD2 ; + skos:exactMatch UMLS:C1425524, + HGNC:18451, + HGNC_symbol:MCFD2 ; biolink:category biolink:Gene . OMIM:607789 a owl:Class ; rdfs:label "PHF3" ; IAO:0000142 PMID:11856869, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1418529 ; oboInOwl:hasExactSynonym "PHF3", "kiaa0244", "phd finger protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23469 ; - skos:exactMatch HGNC_symbol:PHF3 ; + skos:exactMatch UMLS:C1418529, + HGNC:8921, + HGNC_symbol:PHF3 ; biolink:category biolink:Gene . OMIM:607790 a owl:Class ; @@ -242690,7 +251583,6 @@ OMIM:607790 a owl:Class ; PMID:28504700, PMID:29513657, PMID:31485074 ; - oboInOwl:hasDbXref UMLS:C1428863 ; oboInOwl:hasExactSynonym "TET1", "cxxc finger protein 6", "kiaa1676", @@ -242701,18 +251593,20 @@ OMIM:607790 a owl:Class ; "tet oncogene family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80312 ; - skos:exactMatch HGNC_symbol:TET1 ; + skos:exactMatch UMLS:C1428863, + HGNC:29484, + HGNC_symbol:TET1 ; biolink:category biolink:Gene . OMIM:607791 a owl:Class ; rdfs:label "charcot-marie-tooth disease, dominant intermediate d" ; IAO:0000142 PMID:10406984 ; - oboInOwl:hasDbXref UMLS:C1843075 ; oboInOwl:hasExactSynonym "CMTDID", "charcot-marie-tooth disease, dominant intermediate d", "charcot-marie-tooth neuropathy, dominant intermediate d", "di-cmtd" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1843075 ; biolink:category biolink:Disease . OMIM:607792 a owl:Class ; @@ -242721,14 +251615,15 @@ OMIM:607792 a owl:Class ; PMID:12819018, PMID:20844236, PMID:7981148 ; - oboInOwl:hasDbXref UMLS:C1426810 ; oboInOwl:hasExactSynonym "GCSAM", "germinal center-associated, signaling and motility", "germinal center-expressed transcript 2", "hgal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257144 ; - skos:exactMatch HGNC_symbol:GCSAM ; + skos:exactMatch UMLS:C1426810, + HGNC:20253, + HGNC_symbol:GCSAM ; biolink:category biolink:Gene . OMIM:607793 a owl:Class ; @@ -242736,26 +251631,28 @@ OMIM:607793 a owl:Class ; IAO:0000142 PMID:10873382, PMID:10944437, PMID:11278528 ; - oboInOwl:hasDbXref UMLS:C1418773 ; oboInOwl:hasExactSynonym "PPAN", "peter pan, drosophila, homolog of", "ppan/p2ry11 spliced read-through transcript", "ssf1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56342 ; - skos:exactMatch HGNC_symbol:PPAN ; + skos:exactMatch UMLS:C1418773, + HGNC:9227, + HGNC_symbol:PPAN ; biolink:category biolink:Gene . OMIM:607794 a owl:Class ; rdfs:label "MESTIT1" ; IAO:0000142 PMID:12095916, PMID:8884280 ; - oboInOwl:hasDbXref UMLS:C1425221 ; oboInOwl:hasExactSynonym "MESTIT1", "mest intronic transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:317751 ; - skos:exactMatch HGNC_symbol:MESTIT1 ; + skos:exactMatch UMLS:C1425221, + HGNC:17991, + HGNC_symbol:MESTIT1 ; biolink:category biolink:Gene . OMIM:607795 a owl:Class ; @@ -242768,14 +251665,15 @@ OMIM:607795 a owl:Class ; PMID:9521884 ; RO:0002525 CHR:9606chr9q32 ; RO:0003303 OMIM:615922 ; - oboInOwl:hasDbXref UMLS:C1424922 ; oboInOwl:hasExactSynonym "PRPF4", "hprp4", "pre-mrna-processing factor 4", "precursor mrna-processing factor 4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9128 ; - skos:exactMatch HGNC_symbol:PRPF4 ; + skos:exactMatch UMLS:C1424922, + HGNC:17349, + HGNC_symbol:PRPF4 ; biolink:category biolink:Gene . OMIM:607796 a owl:Class ; @@ -242783,20 +251681,20 @@ OMIM:607796 a owl:Class ; IAO:0000142 PMID:10508479, PMID:12032735, PMID:12754510 ; - oboInOwl:hasDbXref UMLS:C1424694 ; oboInOwl:hasExactSynonym "PHF11", "ny-ren-34", "phd finger protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51131 ; - skos:exactMatch HGNC_symbol:PHF11 ; + skos:exactMatch UMLS:C1424694, + HGNC:17024, + HGNC_symbol:PHF11 ; biolink:category biolink:Gene . OMIM:607797 a owl:Class ; rdfs:label "SNRNP40" ; IAO:0000142 PMID:9731529, PMID:9774689 ; - oboInOwl:hasDbXref UMLS:C1823824 ; oboInOwl:hasExactSynonym "SNRNP40", "prpf8-binding protein", "small nuclear ribonucleoprotein, 40-kd", @@ -242804,7 +251702,9 @@ OMIM:607797 a owl:Class ; "u5 snrnp-specific protein, 40-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9410 ; - skos:exactMatch HGNC_symbol:SNRNP40 ; + skos:exactMatch UMLS:C1823824, + HGNC:30857, + HGNC_symbol:SNRNP40 ; biolink:category biolink:Gene . OMIM:607798 a owl:Class ; @@ -242813,13 +251713,14 @@ OMIM:607798 a owl:Class ; PMID:17952504, PMID:19794495, PMID:8163200 ; - oboInOwl:hasDbXref UMLS:C1425269 ; oboInOwl:hasExactSynonym "TAF1L", "taf1 RNA polymerase ii-like", "tata box-binding protein-associated factor 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:138474 ; - skos:exactMatch HGNC_symbol:TAF1L ; + skos:exactMatch UMLS:C1425269, + HGNC:18056, + HGNC_symbol:TAF1L ; biolink:category biolink:Gene . OMIM:607799 a owl:Class ; @@ -242829,13 +251730,14 @@ OMIM:607799 a owl:Class ; PMID:18794299, PMID:25271157, PMID:9243510 ; - oboInOwl:hasDbXref UMLS:C1538168 ; oboInOwl:hasExactSynonym "ZDHHC17", "huntingtin-interacting protein 14", "zinc finger dhhc domain-containing protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23390 ; - skos:exactMatch HGNC_symbol:ZDHHC17 ; + skos:exactMatch UMLS:C1538168, + HGNC:18412, + HGNC_symbol:ZDHHC17 ; biolink:category biolink:Gene . OMIM:607800 a owl:Class ; @@ -242851,12 +251753,13 @@ OMIM:607800 a owl:Class ; PMID:8845852 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:242500 ; - oboInOwl:hasDbXref UMLS:C1422805 ; oboInOwl:hasExactSynonym "ABCA12", "atp-binding cassette, subfamily a, member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26154 ; - skos:exactMatch HGNC_symbol:ABCA12 ; + skos:exactMatch UMLS:C1422805, + HGNC:14637, + HGNC_symbol:ABCA12 ; biolink:category biolink:Gene . OMIM:607801 a owl:Class ; @@ -242868,13 +251771,14 @@ OMIM:607802 a owl:Class ; IAO:0000142 PMID:12657465, PMID:12707951, PMID:14723793 ; - oboInOwl:hasDbXref UMLS:C1412117 ; oboInOwl:hasExactSynonym "CNNM1", "ancient conserved domain protein 1", "cyclin m1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26507 ; - skos:exactMatch HGNC_symbol:CNNM1 ; + skos:exactMatch UMLS:C1412117, + HGNC:102, + HGNC_symbol:CNNM1 ; biolink:category biolink:Gene . OMIM:607803 a owl:Class ; @@ -242886,26 +251790,28 @@ OMIM:607803 a owl:Class ; PMID:24699222 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:616418 ; - oboInOwl:hasDbXref UMLS:C1412118 ; oboInOwl:hasExactSynonym "CNNM2", "ancient conserved domain protein 2", "cyclin m2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54805 ; - skos:exactMatch HGNC_symbol:CNNM2 ; + skos:exactMatch UMLS:C1412118, + HGNC:103, + HGNC_symbol:CNNM2 ; biolink:category biolink:Gene . OMIM:607804 a owl:Class ; rdfs:label "CNNM3" ; IAO:0000142 PMID:12657465, PMID:14723793 ; - oboInOwl:hasDbXref UMLS:C1412119 ; oboInOwl:hasExactSynonym "CNNM3", "ancient conserved domain protein 3", "cyclin m3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26505 ; - skos:exactMatch HGNC_symbol:CNNM3 ; + skos:exactMatch UMLS:C1412119, + HGNC:104, + HGNC_symbol:CNNM3 ; biolink:category biolink:Gene . OMIM:607805 a owl:Class ; @@ -242919,38 +251825,41 @@ OMIM:607805 a owl:Class ; PMID:3236352 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:217080 ; - oboInOwl:hasDbXref UMLS:C1412120 ; oboInOwl:hasExactSynonym "CNNM4", "ancient conserved domain protein 4", "cyclin m4", "kiaa1592" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26504 ; - skos:exactMatch HGNC_symbol:CNNM4 ; + skos:exactMatch UMLS:C1412120, + HGNC:105, + HGNC_symbol:CNNM4 ; biolink:category biolink:Gene . OMIM:607806 a owl:Class ; rdfs:label "OTOP1" ; IAO:0000142 PMID:12651873, PMID:29371428 ; - oboInOwl:hasDbXref UMLS:C1426306 ; oboInOwl:hasExactSynonym "OTOP1", "otopetrin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133060 ; - skos:exactMatch HGNC_symbol:OTOP1 ; + skos:exactMatch UMLS:C1426306, + HGNC:19656, + HGNC_symbol:OTOP1 ; biolink:category biolink:Gene . OMIM:607807 a owl:Class ; rdfs:label "ABCA13" ; IAO:0000142 PMID:12697998, PMID:19944402 ; - oboInOwl:hasDbXref UMLS:C1538894 ; oboInOwl:hasExactSynonym "ABCA13", "atp-binding cassette, subfamily a, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154664 ; - skos:exactMatch HGNC_symbol:ABCA13 ; + skos:exactMatch UMLS:C1538894, + HGNC:14638, + HGNC_symbol:ABCA13 ; biolink:category biolink:Gene . OMIM:607808 a owl:Class ; @@ -242958,14 +251867,15 @@ OMIM:607808 a owl:Class ; IAO:0000142 PMID:10818213, PMID:1346742, PMID:17963489 ; - oboInOwl:hasDbXref UMLS:C1417737 ; oboInOwl:hasExactSynonym "NKX2-4", "nk2 homeobox 4", "nk2, drosophila, homolog of, d", "nkx2.4, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644524 ; - skos:exactMatch HGNC_symbol:NKX2-4 ; + skos:exactMatch UMLS:C1417737, + HGNC:7837, + HGNC_symbol:NKX2-4 ; biolink:category biolink:Gene . OMIM:607809 a owl:Class ; @@ -242992,8 +251902,6 @@ OMIM:607809 a owl:Class ; PMID:9744475 ; RO:0002525 CHR:9606chr11q22.3 ; RO:0003303 OMIM:203750 ; - oboInOwl:hasDbXref UMLS:C1412111, - UMLS:C1536500 ; oboInOwl:hasExactSynonym "ACAT1", "acat", "acetoacetyl-coa thiolase, mitochondrial", @@ -243002,7 +251910,10 @@ OMIM:607809 a owl:Class ; "t2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:38 ; - skos:exactMatch HGNC_symbol:ACAT1 ; + skos:exactMatch UMLS:C1412111, + UMLS:C1536500, + HGNC:93, + HGNC_symbol:ACAT1 ; biolink:category biolink:Gene . OMIM:607810 a owl:Class ; @@ -243011,26 +251922,28 @@ OMIM:607810 a owl:Class ; PMID:20410488, PMID:21527675, PMID:29925952 ; - oboInOwl:hasDbXref UMLS:C1539703 ; oboInOwl:hasExactSynonym "RSAD2", "radical s-adenosyl methionine domain-containing protein 2", "virus inhibitory protein, endoplasmic reticulum-associated, interferon-inducible" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91543 ; - skos:exactMatch HGNC_symbol:RSAD2 ; + skos:exactMatch UMLS:C1539703, + HGNC:30908, + HGNC_symbol:RSAD2 ; biolink:category biolink:Gene . OMIM:607811 a owl:Class ; rdfs:label "PAK1IP1" ; IAO:0000142 PMID:11371639 ; - oboInOwl:hasDbXref UMLS:C1427187 ; oboInOwl:hasExactSynonym "PAK1IP1", "p21-activated kinase- and phospholipase c-interacting protein 1", "pak- and plc-interacting protein 1", "pak1-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55003 ; - skos:exactMatch HGNC_symbol:PAK1IP1 ; + skos:exactMatch UMLS:C1427187, + HGNC:20882, + HGNC_symbol:PAK1IP1 ; biolink:category biolink:Gene . OMIM:607813 a owl:Class ; @@ -243038,7 +251951,6 @@ OMIM:607813 a owl:Class ; IAO:0000142 PMID:12069809, PMID:12730698, PMID:9455484 ; - oboInOwl:hasDbXref UMLS:C1843041 ; oboInOwl:hasExactSynonym "PLPPR4", "kiaa0455", "lipid phosphate phosphatase-related 4", @@ -243048,7 +251960,9 @@ OMIM:607813 a owl:Class ; "prg1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9890 ; - skos:exactMatch HGNC_symbol:PLPPR4 ; + skos:exactMatch UMLS:C1843041, + HGNC:23496, + HGNC_symbol:PLPPR4 ; biolink:category biolink:Gene . OMIM:607814 a owl:Class ; @@ -243058,39 +251972,42 @@ OMIM:607814 a owl:Class ; PMID:14702087 ; RO:0002525 CHR:9606chr19q13.11 ; RO:0003303 OMIM:608415 ; - oboInOwl:hasDbXref UMLS:C1826821 ; oboInOwl:hasExactSynonym "RGS9BP", "regulator of g protein signaling 9-binding protein", "rgs9 anchor protein", "rgs9-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388531 ; - skos:exactMatch HGNC_symbol:RGS9BP ; + skos:exactMatch UMLS:C1826821, + HGNC:30304, + HGNC_symbol:RGS9BP ; biolink:category biolink:Gene . OMIM:607815 a owl:Class ; rdfs:label "ANKS1B" ; IAO:0000142 PMID:10490826 ; - oboInOwl:hasDbXref UMLS:C1823694 ; oboInOwl:hasExactSynonym "ANKS1B", "ankyrin repeat and sterile alpha motif domains-containing protein 1b", "e2a/pbx1-activated gene 1n pre-b cells 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56899 ; - skos:exactMatch HGNC_symbol:ANKS1B ; + skos:exactMatch UMLS:C1823694, + HGNC:24600, + HGNC_symbol:ANKS1B ; biolink:category biolink:Gene . OMIM:607816 a owl:Class ; rdfs:label "PCGF6" ; IAO:0000142 PMID:12167161 ; - oboInOwl:hasDbXref UMLS:C1538602 ; oboInOwl:hasExactSynonym "PCGF6", "mel18- and bmi1-like ring finger protein", "polycomb group ring finger protein 6", "ring finger protein 134" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84108 ; - skos:exactMatch HGNC_symbol:PCGF6 ; + skos:exactMatch UMLS:C1538602, + HGNC:21156, + HGNC_symbol:PCGF6 ; biolink:category biolink:Gene . OMIM:607817 a owl:Class ; @@ -243111,7 +252028,6 @@ OMIM:607817 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr8q22.2 ; RO:0003303 OMIM:216550 ; - oboInOwl:hasDbXref UMLS:C1540183 ; oboInOwl:hasExactSynonym "VPS13B", "coh1 gene", "kiaa0532", @@ -243119,7 +252035,9 @@ OMIM:607817 a owl:Class ; "vacuolar protein sorting 13, yeast, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157680 ; - skos:exactMatch HGNC_symbol:VPS13B ; + skos:exactMatch UMLS:C1540183, + HGNC:2183, + HGNC_symbol:VPS13B ; biolink:category biolink:Gene . OMIM:607818 a owl:Class ; @@ -243129,8 +252047,6 @@ OMIM:607818 a owl:Class ; PMID:16617106 ; RO:0002525 CHR:9606chr10q21.2 ; RO:0003303 OMIM:605990 ; - oboInOwl:hasDbXref UMLS:C1425371, - UMLS:C2700426 ; oboInOwl:hasExactSynonym "ZNF365", "kiaa0844", "su48", @@ -243138,7 +252054,10 @@ OMIM:607818 a owl:Class ; "zinc finger protein 365" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22891 ; - skos:exactMatch HGNC_symbol:ZNF365 ; + skos:exactMatch UMLS:C1425371, + UMLS:C2700426, + HGNC:18194, + HGNC_symbol:ZNF365 ; biolink:category biolink:Gene . OMIM:607819 a owl:Class ; @@ -243148,14 +252067,15 @@ OMIM:607819 a owl:Class ; PMID:12095919, PMID:15154973, PMID:15994300 ; - oboInOwl:hasDbXref UMLS:C1426005 ; oboInOwl:hasExactSynonym "SLC30A5", "solute carrier family 30 (zinc transporter), member 5", "zinc transporter 5", "znt1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64924 ; - skos:exactMatch HGNC_symbol:SLC30A5 ; + skos:exactMatch UMLS:C1426005, + HGNC:19089, + HGNC_symbol:SLC30A5 ; biolink:category biolink:Gene . OMIM:607820 a owl:Class ; @@ -243165,14 +252085,15 @@ OMIM:607820 a owl:Class ; PMID:12075009, PMID:15471887, PMID:9927460 ; - oboInOwl:hasDbXref UMLS:C1426505 ; oboInOwl:hasExactSynonym "HOOK1", "hk1", "hook microtubule tethering protein 1", "hook, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51361 ; - skos:exactMatch HGNC_symbol:HOOK1 ; + skos:exactMatch UMLS:C1426505, + HGNC:19884, + HGNC_symbol:HOOK1 ; biolink:category biolink:Gene . OMIM:607822 a owl:Class ; @@ -243210,15 +252131,15 @@ OMIM:607822 a owl:Class ; PMID:9052708, PMID:9546792, PMID:9728730 ; - oboInOwl:hasDbXref UMLS:C1843013, - UMLS:C1843014, - UMLS:C1843015 ; oboInOwl:hasExactSynonym "AD3", "alzheimer disease 3", "alzheimer disease 3, early-onset", "alzheimer disease, familial, 3", "alzheimer disease, familial, 3, with spastic paraparesis and apraxia", "alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques" ; + skos:exactMatch UMLS:C1843013, + UMLS:C1843014, + UMLS:C1843015 ; biolink:category biolink:Disease . OMIM:607823 a owl:Class ; @@ -243227,37 +252148,39 @@ OMIM:607823 a owl:Class ; PMID:12740761, PMID:19429912, PMID:26148450 ; - oboInOwl:hasDbXref UMLS:C1843004 ; oboInOwl:hasExactSynonym "HLTS", "hypotrichosis-lymphedema-telangiectasia syndrome" ; + skos:exactMatch UMLS:C1843004 ; biolink:category biolink:Disease . OMIM:607824 a owl:Class ; rdfs:label "HOOK2" ; IAO:0000142 PMID:11238449, PMID:9927460 ; - oboInOwl:hasDbXref UMLS:C1426506 ; oboInOwl:hasExactSynonym "HOOK2", "hk2", "hook microtubule tethering protein 2", "hook, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29911 ; - skos:exactMatch HGNC_symbol:HOOK2 ; + skos:exactMatch UMLS:C1426506, + HGNC:19885, + HGNC_symbol:HOOK2 ; biolink:category biolink:Gene . OMIM:607825 a owl:Class ; rdfs:label "HOOK3" ; IAO:0000142 PMID:11238449, PMID:29420470 ; - oboInOwl:hasDbXref UMLS:C1428139 ; oboInOwl:hasExactSynonym "HOOK3", "hk3", "hook microtubule tethering protein 3", "hook, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84376 ; - skos:exactMatch HGNC_symbol:HOOK3 ; + skos:exactMatch UMLS:C1428139, + HGNC:23576, + HGNC_symbol:HOOK3 ; biolink:category biolink:Gene . OMIM:607826 a owl:Class ; @@ -243268,7 +252191,6 @@ OMIM:607826 a owl:Class ; PMID:16793548, PMID:19220705, PMID:25237103 ; - oboInOwl:hasDbXref UMLS:C1412292 ; oboInOwl:hasExactSynonym "AHCYL1", "adenosylhomocysteinase-like 2", "ahcy-like 1", @@ -243278,30 +252200,34 @@ OMIM:607826 a owl:Class ; "s-adenosylhomocysteine hydrolase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10768 ; - skos:exactMatch HGNC_symbol:AHCYL1 ; + skos:exactMatch UMLS:C1412292, + HGNC:344, + HGNC_symbol:AHCYL1 ; biolink:category biolink:Gene . OMIM:607827 a owl:Class ; rdfs:label "OTOP2" ; IAO:0000142 PMID:12651873, PMID:30814735 ; - oboInOwl:hasDbXref UMLS:C1426307 ; oboInOwl:hasExactSynonym "OTOP2", "otopetrin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92736 ; - skos:exactMatch HGNC_symbol:OTOP2 ; + skos:exactMatch UMLS:C1426307, + HGNC:19657, + HGNC_symbol:OTOP2 ; biolink:category biolink:Gene . OMIM:607828 a owl:Class ; rdfs:label "OTOP3" ; IAO:0000142 PMID:12651873 ; - oboInOwl:hasDbXref UMLS:C1426308 ; oboInOwl:hasExactSynonym "OTOP3", "otopetrin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347741 ; - skos:exactMatch HGNC_symbol:OTOP3 ; + skos:exactMatch UMLS:C1426308, + HGNC:19658, + HGNC_symbol:OTOP3 ; biolink:category biolink:Gene . OMIM:607829 a owl:Class ; @@ -243311,12 +252237,12 @@ OMIM:607829 a owl:Class ; PMID:17850623, PMID:24867995, PMID:26258302 ; - oboInOwl:hasDbXref UMLS:C1843003 ; oboInOwl:hasExactSynonym "MVP2", "mitral valve prolapse 2", "mitral valve prolapse, myxomatous 2", "myxomatous mitral valve prolapse 2" ; rdfs:subClassOf OMIMPS:157700 ; + skos:exactMatch UMLS:C1843003 ; biolink:category biolink:Disease . OMIM:607830 a owl:Class ; @@ -243332,14 +252258,15 @@ OMIM:607830 a owl:Class ; PMID:8055142 ; RO:0002525 CHR:9606chr4q21.21 ; RO:0003303 OMIM:219000 ; - oboInOwl:hasDbXref UMLS:C1426074 ; oboInOwl:hasExactSynonym "FRAS1", "fras1 gene", "fraser extracellular matrix complex subunit 1", "kiaa1500" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80144 ; - skos:exactMatch HGNC_symbol:FRAS1 ; + skos:exactMatch UMLS:C1426074, + HGNC:19185, + HGNC_symbol:FRAS1 ; biolink:category biolink:Gene . OMIM:607833 a owl:Class ; @@ -243347,14 +252274,15 @@ OMIM:607833 a owl:Class ; IAO:0000142 PMID:12383518, PMID:12716968, PMID:20660792 ; - oboInOwl:hasDbXref UMLS:C1424459 ; oboInOwl:hasExactSynonym "TAC4", "hemokinin 1", "preprotachykinin c", "tachykinin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255061 ; - skos:exactMatch HGNC_symbol:TAC4 ; + skos:exactMatch UMLS:C1424459, + HGNC:16641, + HGNC_symbol:TAC4 ; biolink:category biolink:Gene . OMIM:607834 a owl:Class ; @@ -243380,17 +252308,16 @@ OMIM:607834 a owl:Class ; PMID:9674977, PMID:9774781, PMID:9783565 ; - oboInOwl:hasDbXref UMLS:C0003467, - UMLS:C0679771 ; oboInOwl:hasExactSynonym "anxiety", "harm avoidance" ; + skos:exactMatch UMLS:C0003467, + UMLS:C0679771 ; biolink:category biolink:Disease . OMIM:607835 a owl:Class ; rdfs:label "SF3B6" ; IAO:0000142 PMID:11500380, PMID:12738865 ; - oboInOwl:hasDbXref UMLS:C1842980 ; oboInOwl:hasExactSynonym "SF3B6", "pre-mrna branch site protein p14", "sf3b, 14-kd subunit", @@ -243399,7 +252326,9 @@ OMIM:607835 a owl:Class ; "splicing factor 3b, subunit 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51639 ; - skos:exactMatch HGNC_symbol:SF3B6 ; + skos:exactMatch UMLS:C1842980, + HGNC:30096, + HGNC_symbol:SF3B6 ; biolink:category biolink:Gene . OMIM:607837 a owl:Class ; @@ -243415,15 +252344,16 @@ OMIM:607837 a owl:Class ; PMID:7683855 ; RO:0002525 CHR:9606chr8p23.3 ; RO:0003303 OMIM:610003 ; - oboInOwl:hasDbXref UMLS:C1413500, - UMLS:C1838570, - UMLS:C1864923 ; oboInOwl:hasExactSynonym "CLN8", "cln8 gene", "cln8 transmembrane er and ergic protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2055 ; - skos:exactMatch HGNC_symbol:CLN8 ; + skos:exactMatch UMLS:C1413500, + UMLS:C1838570, + UMLS:C1864923, + HGNC:2079, + HGNC_symbol:CLN8 ; biolink:category biolink:Gene . OMIM:607838 a owl:Class ; @@ -243435,13 +252365,14 @@ OMIM:607838 a owl:Class ; PMID:8940155 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:252605 ; - oboInOwl:hasDbXref UMLS:C1427860 ; oboInOwl:hasExactSynonym "GNPTG", "gnptag", "n-acetylglucosamine-1-phosphotransferase, gamma subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84572 ; - skos:exactMatch HGNC_symbol:GNPTG ; + skos:exactMatch UMLS:C1427860, + HGNC:23026, + HGNC_symbol:GNPTG ; biolink:category biolink:Gene . OMIM:607839 a owl:Class ; @@ -243465,7 +252396,6 @@ OMIM:607839 a owl:Class ; PMID:9851430 ; RO:0002525 CHR:9606chr3p12.2 ; RO:0003303 OMIM:263570 ; - oboInOwl:hasDbXref UMLS:C1415001 ; oboInOwl:hasExactSynonym "1,4-alpha-glucan branching enzyme", "GBE1", "amylo-(1,4 to 1,6) transglucosidase", @@ -243474,7 +252404,9 @@ OMIM:607839 a owl:Class ; "glycogen branching enzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2632 ; - skos:exactMatch HGNC_symbol:GBE1 ; + skos:exactMatch UMLS:C1415001, + HGNC:4180, + HGNC_symbol:GBE1 ; biolink:category biolink:Gene . OMIM:607840 a owl:Class ; @@ -243500,14 +252432,15 @@ OMIM:607840 a owl:Class ; PMID:8940156 ; RO:0002525 CHR:9606chr12q23.2 ; RO:0003303 OMIM:252600 ; - oboInOwl:hasDbXref UMLS:C1825380 ; oboInOwl:hasExactSynonym "GNPTAB", "gnpta", "mgc4170", "n-acetylglucosamine-1-phosphotransferase, alpha/beta subunits" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79158 ; - skos:exactMatch HGNC_symbol:GNPTAB ; + skos:exactMatch UMLS:C1825380, + HGNC:29670, + HGNC_symbol:GNPTAB ; biolink:category biolink:Gene . OMIM:607841 a owl:Class ; @@ -243516,22 +252449,23 @@ OMIM:607841 a owl:Class ; PMID:12736868, PMID:24616153 ; RO:0002525 CHR:9606chr12q13-q14 ; - oboInOwl:hasDbXref UMLS:C1842939 ; oboInOwl:hasExactSynonym "DFNA48", "deafness, autosomal dominant 48" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1842939 ; biolink:category biolink:Disease . OMIM:607843 a owl:Class ; rdfs:label "PKHD1L1" ; IAO:0000142 PMID:12620974 ; - oboInOwl:hasDbXref UMLS:C1426851 ; oboInOwl:hasExactSynonym "PKHD1L1", "fibrocystin-l", "pkhd1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93035 ; - skos:exactMatch HGNC_symbol:PKHD1L1 ; + skos:exactMatch UMLS:C1426851, + HGNC:20313, + HGNC_symbol:PKHD1L1 ; biolink:category biolink:Gene . OMIM:607844 a owl:Class ; @@ -243549,19 +252483,20 @@ OMIM:607844 a owl:Class ; PMID:9295073 ; RO:0002525 CHR:9606chr12q14.3 ; RO:0003303 OMIM:166700 ; - oboInOwl:hasDbXref UMLS:C0029455, - UMLS:C0265514, - UMLS:C1537562, - UMLS:C3149399, - UMLS:C3149695, - UMLS:C5394581 ; oboInOwl:hasExactSynonym "LEMD3", "integral inner nuclear membrane protein", "lem domain-containing protein 3", "man antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23592 ; - skos:exactMatch HGNC_symbol:LEMD3 ; + skos:exactMatch UMLS:C0029455, + UMLS:C0265514, + UMLS:C1537562, + UMLS:C3149399, + UMLS:C3149695, + UMLS:C5394581, + HGNC:28887, + HGNC_symbol:LEMD3 ; biolink:category biolink:Gene . OMIM:607845 a owl:Class ; @@ -243573,22 +252508,22 @@ OMIM:607845 a owl:Class ; PMID:19965479, PMID:24057215, PMID:26878725 ; - oboInOwl:hasDbXref UMLS:C1425032, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "XPO5", "exp5", "exportin 5", "kiaa1291" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57510 ; - skos:exactMatch HGNC_symbol:XPO5 ; + skos:exactMatch UMLS:C1425032, + UMLS:C2986382, + HGNC:17675, + HGNC_symbol:XPO5 ; biolink:category biolink:Gene . OMIM:607846 a owl:Class ; rdfs:label "METTL2B" ; IAO:0000142 PMID:11738826, PMID:28655767 ; - oboInOwl:hasDbXref UMLS:C1825974 ; oboInOwl:hasExactSynonym "METTL2B", "methyltransferase 2b, methylcytidine", "methyltransferase-like 2b", @@ -243596,7 +252531,9 @@ OMIM:607846 a owl:Class ; "mettl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55798 ; - skos:exactMatch HGNC_symbol:METTL2B ; + skos:exactMatch UMLS:C1825974, + HGNC:18272, + HGNC_symbol:METTL2B ; biolink:category biolink:Gene . OMIM:607847 a owl:Class ; @@ -243604,11 +252541,11 @@ OMIM:607847 a owl:Class ; IAO:0000142 PMID:11807637, PMID:11810106, PMID:12778173 ; - oboInOwl:hasDbXref UMLS:C1842930, - ORPHA:2688 ; oboInOwl:hasExactSynonym "neutropenia, nonimmune chronic idiopathic, of adults", "ni-cina", "nonimmune chronic idiopathic neutropenia of adults" ; + skos:exactMatch UMLS:C1842930, + ORPHA:2688 ; biolink:category biolink:Disease . OMIM:607848 a owl:Class ; @@ -243616,12 +252553,13 @@ OMIM:607848 a owl:Class ; IAO:0000142 PMID:11179213, PMID:11520070, PMID:14668488 ; - oboInOwl:hasDbXref UMLS:C1428950 ; oboInOwl:hasExactSynonym "RILP", "rab-interacting lysosomal protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83547 ; - skos:exactMatch HGNC_symbol:RILP ; + skos:exactMatch UMLS:C1428950, + HGNC:30266, + HGNC_symbol:RILP ; biolink:category biolink:Gene . OMIM:607849 a owl:Class ; @@ -243633,40 +252571,43 @@ OMIM:607849 a owl:Class ; PMID:24916380 ; RO:0002525 CHR:9606chr14q24.1 ; RO:0003303 OMIM:616108 ; - oboInOwl:hasDbXref UMLS:C1425207 ; oboInOwl:hasExactSynonym "RDH11", "prostate short-chain dehydrogenase/reductase 1", "retinal reductase 1", "retinol dehydrogenase 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51109 ; - skos:exactMatch HGNC_symbol:RDH11 ; + skos:exactMatch UMLS:C1425207, + HGNC:17964, + HGNC_symbol:RDH11 ; biolink:category biolink:Gene . OMIM:607851 a owl:Class ; rdfs:label "NKD1" ; IAO:0000142 PMID:11356022, PMID:11604995 ; - oboInOwl:hasDbXref UMLS:C1424706 ; oboInOwl:hasExactSynonym "NKD1", "naked cuticle, drosophila, homolog of, 1", "nkd inhibitor of wnt signaling pathway 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85407 ; - skos:exactMatch HGNC_symbol:NKD1 ; + skos:exactMatch UMLS:C1424706, + HGNC:17045, + HGNC_symbol:NKD1 ; biolink:category biolink:Gene . OMIM:607852 a owl:Class ; rdfs:label "NKD2" ; IAO:0000142 PMID:11356022, PMID:11604995 ; - oboInOwl:hasDbXref UMLS:C1424707 ; oboInOwl:hasExactSynonym "NKD2", "naked cuticle, drosophila, homolog of, 2", "nkd inhibitor of wnt signaling pathway 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85409 ; - skos:exactMatch HGNC_symbol:NKD2 ; + skos:exactMatch UMLS:C1424707, + HGNC:17046, + HGNC_symbol:NKD2 ; biolink:category biolink:Gene . OMIM:607854 a owl:Class ; @@ -243708,19 +252649,20 @@ OMIM:607854 a owl:Class ; PMID:9700209 ; RO:0002525 CHR:9606chr11q12.3 ; RO:0003303 OMIM:193220 ; - oboInOwl:hasDbXref UMLS:C0339510, - UMLS:C1826421, - UMLS:C2750789, - UMLS:C3888099, - UMLS:C3888198, - UMLS:C5435648 ; oboInOwl:hasExactSynonym "BEST1", "bestrophin 1", "tu15b", "vmd2 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7439 ; - skos:exactMatch HGNC_symbol:BEST1 ; + skos:exactMatch UMLS:C0339510, + UMLS:C1826421, + UMLS:C2750789, + UMLS:C3888099, + UMLS:C3888198, + UMLS:C5435648, + HGNC:12703, + HGNC_symbol:BEST1 ; biolink:category biolink:Gene . OMIM:607855 a owl:Class ; @@ -243757,19 +252699,18 @@ OMIM:607855 a owl:Class ; PMID:8576559, PMID:9099847, PMID:9710454 ; - oboInOwl:hasDbXref UMLS:C1263858, - ORPHA:258 ; oboInOwl:hasExactSynonym "MDC1A", "muscular dystrophy, congenital merosin-deficient", "muscular dystrophy, congenital merosin-deficient, 1a", "muscular dystrophy, congenital, due to partial lama2 deficiency" ; + skos:exactMatch UMLS:C1263858, + ORPHA:258 ; biolink:category biolink:Disease . OMIM:607856 a owl:Class ; rdfs:label "CGNL1" ; IAO:0000142 PMID:11214970, PMID:12736278 ; - oboInOwl:hasDbXref UMLS:C1538448 ; oboInOwl:hasExactSynonym "CGNL1", "cgnl1/cyp19a1 fusion gene", "cingulin-like 1", @@ -243777,7 +252718,9 @@ OMIM:607856 a owl:Class ; "kiaa1749" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84952 ; - skos:exactMatch HGNC_symbol:CGNL1 ; + skos:exactMatch UMLS:C1538448, + HGNC:25931, + HGNC_symbol:CGNL1 ; biolink:category biolink:Gene . OMIM:607858 a owl:Class ; @@ -243791,21 +252734,22 @@ OMIM:607858 a owl:Class ; PMID:21426348, PMID:21953724, PMID:30578322 ; - oboInOwl:hasDbXref UMLS:C1425398 ; oboInOwl:hasExactSynonym "PARL", "presenilin-associated rhomboid-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55486 ; - skos:exactMatch HGNC_symbol:PARL ; + skos:exactMatch UMLS:C1425398, + HGNC:18253, + HGNC_symbol:PARL ; biolink:category biolink:Gene . OMIM:607859 a owl:Class ; rdfs:label "angioma, tufted" ; IAO:0000142 PMID:12752572, PMID:1458641 ; - oboInOwl:hasDbXref UMLS:C0346073 ; oboInOwl:hasExactSynonym "angioma, tufted", - "tufted angioma" . + "tufted angioma" ; + skos:exactMatch UMLS:C0346073 . OMIM:607860 a owl:Class ; rdfs:label "YY1AP1" ; @@ -243818,15 +252762,16 @@ OMIM:607860 a owl:Class ; PMID:9489789 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:602531 ; - oboInOwl:hasDbXref UMLS:C1538138, - UMLS:C1865267 ; oboInOwl:hasExactSynonym "YY1AP1", "hepatocellular carcinoma-associated protein 2", "yy1 associated protein 1", "yy1-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55249 ; - skos:exactMatch HGNC_symbol:YY1AP1 ; + skos:exactMatch UMLS:C1538138, + UMLS:C1865267, + HGNC:30935, + HGNC_symbol:YY1AP1 ; biolink:category biolink:Gene . OMIM:607861 a owl:Class ; @@ -243839,7 +252784,6 @@ OMIM:607861 a owl:Class ; PMID:28054444 ; RO:0002525 CHR:9606chr14q23.1 ; RO:0003303 OMIM:617466 ; - oboInOwl:hasDbXref UMLS:C1425059 ; oboInOwl:hasExactSynonym "DACT1", "dapper, antagonist of beta-catenin, 1", "dapper, xenopus, homolog of, 1", @@ -243847,33 +252791,37 @@ OMIM:607861 a owl:Class ; "frodo" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51339 ; - skos:exactMatch HGNC_symbol:DACT1 ; + skos:exactMatch UMLS:C1425059, + HGNC:17748, + HGNC_symbol:DACT1 ; biolink:category biolink:Gene . OMIM:607862 a owl:Class ; rdfs:label "DIRAS1" ; IAO:0000142 PMID:12107278, PMID:12194967 ; - oboInOwl:hasDbXref UMLS:C1426032 ; oboInOwl:hasExactSynonym "DIRAS1", "diras family, gtp-binding ras-like protein 1", "distinct subgroup of the ras family, member 1", "ras-related inhibitor of cell growth" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148252 ; - skos:exactMatch HGNC_symbol:DIRAS1 ; + skos:exactMatch UMLS:C1426032, + HGNC:19127, + HGNC_symbol:DIRAS1 ; biolink:category biolink:Gene . OMIM:607863 a owl:Class ; rdfs:label "DIRAS2" ; IAO:0000142 PMID:12194967 ; - oboInOwl:hasDbXref UMLS:C1426163 ; oboInOwl:hasExactSynonym "DIRAS2", "diras family, gtp-binding ras-like protein 2", "distinct subgroup of the ras family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54769 ; - skos:exactMatch HGNC_symbol:DIRAS2 ; + skos:exactMatch UMLS:C1426163, + HGNC:19323, + HGNC_symbol:DIRAS2 ; biolink:category biolink:Gene . OMIM:607864 a owl:Class ; @@ -243883,34 +252831,36 @@ OMIM:607864 a owl:Class ; PMID:8213674, PMID:9230313, PMID:9335612 ; - oboInOwl:hasDbXref UMLS:C1842884 ; oboInOwl:hasExactSynonym "caudal duplication anomaly" ; + skos:exactMatch UMLS:C1842884 ; biolink:category biolink:Disease . OMIM:607865 a owl:Class ; rdfs:label "SETDB2" ; IAO:0000142 PMID:11306461, PMID:12754510 ; - oboInOwl:hasDbXref UMLS:C1426820 ; oboInOwl:hasExactSynonym "SETDB2", "chronic lymphocytic leukemia deletion region gene 8", "set domain protein, bifurcated, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83852 ; - skos:exactMatch HGNC_symbol:SETDB2 ; + skos:exactMatch UMLS:C1426820, + HGNC:20263, + HGNC_symbol:SETDB2 ; biolink:category biolink:Gene . OMIM:607866 a owl:Class ; rdfs:label "SPRYD7" ; IAO:0000142 PMID:11306461 ; - oboInOwl:hasDbXref UMLS:C1422552 ; oboInOwl:hasExactSynonym "SPRYD7", "chromosome 13 open reading frame 1", "chronic lymphocytic leukemia deletion region gene 6", "spry domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57213 ; - skos:exactMatch HGNC_symbol:SPRYD7 ; + skos:exactMatch UMLS:C1422552, + HGNC:14297, + HGNC_symbol:SPRYD7 ; biolink:category biolink:Gene . OMIM:607867 a owl:Class ; @@ -243922,26 +252872,28 @@ OMIM:607867 a owl:Class ; PMID:27486781 ; RO:0002525 CHR:9606chr13q14.2 ; RO:0003303 OMIM:617175 ; - oboInOwl:hasDbXref UMLS:C1425391 ; oboInOwl:hasExactSynonym "RCBTB1", "chronic lymphocytic leukemia deletion region gene 7", "gdp/gtp exchange factor-like protein", "rcc1 domain- and btb domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55213 ; - skos:exactMatch HGNC_symbol:RCBTB1 ; + skos:exactMatch UMLS:C1425391, + HGNC:18243, + HGNC_symbol:RCBTB1 ; biolink:category biolink:Gene . OMIM:607868 a owl:Class ; rdfs:label "TRIM11" ; IAO:0000142 PMID:11331580, PMID:12670303 ; - oboInOwl:hasDbXref UMLS:C1424150 ; oboInOwl:hasExactSynonym "TRIM11", "tripartite motif-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81559 ; - skos:exactMatch HGNC_symbol:TRIM11 ; + skos:exactMatch UMLS:C1424150, + HGNC:16281, + HGNC_symbol:TRIM11 ; biolink:category biolink:Gene . OMIM:607869 a owl:Class ; @@ -243949,14 +252901,15 @@ OMIM:607869 a owl:Class ; IAO:0000142 PMID:12351186, PMID:12655055, PMID:18776887 ; - oboInOwl:hasDbXref UMLS:C1421357 ; oboInOwl:hasExactSynonym "UNC5A", "unc5 netrin receptor a", "unc5, c. elegans, homolog of, a", "unc5h1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90249 ; - skos:exactMatch HGNC_symbol:UNC5A ; + skos:exactMatch UMLS:C1421357, + HGNC:12567, + HGNC_symbol:UNC5A ; biolink:category biolink:Gene . OMIM:607870 a owl:Class ; @@ -243967,14 +252920,15 @@ OMIM:607870 a owl:Class ; PMID:15510105, PMID:17908930, PMID:21172653 ; - oboInOwl:hasDbXref UMLS:C1421358 ; oboInOwl:hasExactSynonym "UNC5B", "unc5 netrin receptor B", "unc5, c. elegans, homolog of, B", "unc5h2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219699 ; - skos:exactMatch HGNC_symbol:UNC5B ; + skos:exactMatch UMLS:C1421358, + HGNC:12568, + HGNC_symbol:UNC5B ; biolink:category biolink:Gene . OMIM:607871 a owl:Class ; @@ -243992,7 +252946,6 @@ OMIM:607871 a owl:Class ; PMID:30679813 ; RO:0002525 CHR:9606chr2p16.3 ; RO:0003303 OMIM:618089 ; - oboInOwl:hasDbXref UMLS:C1422085 ; oboInOwl:hasExactSynonym "FBXO11", "f-box only protein 11", "fbx11", @@ -244000,7 +252953,9 @@ OMIM:607871 a owl:Class ; "vitiligo-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80204 ; - skos:exactMatch HGNC_symbol:FBXO11 ; + skos:exactMatch UMLS:C1422085, + HGNC:13590, + HGNC_symbol:FBXO11 ; biolink:category biolink:Gene . OMIM:607872 a owl:Class ; @@ -244030,9 +252985,9 @@ OMIM:607872 a owl:Class ; PMID:24387996, PMID:9326330 ; RO:0002525 CHR:9606chr1p36 ; - oboInOwl:hasDbXref UMLS:C1842870 ; oboInOwl:hasExactSynonym "chromosome 1p36 deletion syndrome, distal", "monosomy 1p36 syndrome" ; + skos:exactMatch UMLS:C1842870 ; biolink:category biolink:Disease . OMIM:607873 a owl:Class ; @@ -244041,7 +252996,6 @@ OMIM:607873 a owl:Class ; PMID:19237602, PMID:8590280, PMID:9395444 ; - oboInOwl:hasDbXref UMLS:C1424571 ; oboInOwl:hasExactSynonym "SCARF1", "kiaa0149", "scavenger receptor class f, member 1", @@ -244050,19 +253004,22 @@ OMIM:607873 a owl:Class ; "srec1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8578 ; - skos:exactMatch HGNC_symbol:SCARF1 ; + skos:exactMatch UMLS:C1424571, + HGNC:16820, + HGNC_symbol:SCARF1 ; biolink:category biolink:Gene . OMIM:607874 a owl:Class ; rdfs:label "ZNF444" ; IAO:0000142 PMID:11978792 ; - oboInOwl:hasDbXref UMLS:C1423940 ; oboInOwl:hasExactSynonym "ZNF444", "endothelial zinc finger protein 2", "zinc finger protein 444" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55311 ; - skos:exactMatch HGNC_symbol:ZNF444 ; + skos:exactMatch UMLS:C1423940, + HGNC:16052, + HGNC_symbol:ZNF444 ; biolink:category biolink:Gene . OMIM:607875 a owl:Class ; @@ -244075,24 +253032,26 @@ OMIM:607875 a owl:Class ; PMID:28190459 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:617404 ; - oboInOwl:hasDbXref UMLS:C1842869 ; oboInOwl:hasExactSynonym "INPP5K", "inositol polyphosphate-5-phosphatase k", "skeletal muscle- and kidney-enriched inositol phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51763 ; - skos:exactMatch HGNC_symbol:INPP5K ; + skos:exactMatch UMLS:C1842869, + HGNC:33882, + HGNC_symbol:INPP5K ; biolink:category biolink:Gene . OMIM:607877 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12687421 ; - oboInOwl:hasDbXref UMLS:C1427772 ; oboInOwl:hasExactSynonym "otosp", "otospiralin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150677 ; - skos:exactMatch HGNC_symbol:OTOS ; + skos:exactMatch UMLS:C1427772, + HGNC:22644, + HGNC_symbol:OTOS ; biolink:category biolink:Gene . OMIM:607878 a owl:Class ; @@ -244108,25 +253067,27 @@ OMIM:607878 a owl:Class ; PMID:9524818 ; RO:0002525 CHR:9606chr5p12 ; RO:0003303 OMIM:614736 ; - oboInOwl:hasDbXref UMLS:C1417750 ; oboInOwl:hasExactSynonym "NNT", "nicotinamide nucleotide transhydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23530 ; - skos:exactMatch HGNC_symbol:NNT ; + skos:exactMatch UMLS:C1417750, + HGNC:7863, + HGNC_symbol:NNT ; biolink:category biolink:Gene . OMIM:607879 a owl:Class ; rdfs:label "EXOC1" ; IAO:0000142 PMID:11406615, PMID:11493706 ; - oboInOwl:hasDbXref UMLS:C1428970 ; oboInOwl:hasExactSynonym "EXOC1", "exocyst complex component 1", "sec3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55763 ; - skos:exactMatch HGNC_symbol:EXOC1 ; + skos:exactMatch UMLS:C1428970, + HGNC:30380, + HGNC_symbol:EXOC1 ; biolink:category biolink:Gene . OMIM:607880 a owl:Class ; @@ -244137,28 +253098,30 @@ OMIM:607880 a owl:Class ; PMID:30284759 ; RO:0002525 CHR:9606chr2p13.2 ; RO:0003303 OMIM:618395 ; - oboInOwl:hasDbXref UMLS:C1825079 ; oboInOwl:hasExactSynonym "EXOC6B", "exocyst complex component 6b", "kiaa0919", "sec15, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23233 ; - skos:exactMatch HGNC_symbol:EXOC6B ; + skos:exactMatch UMLS:C1825079, + HGNC:17085, + HGNC_symbol:EXOC6B ; biolink:category biolink:Gene . OMIM:607881 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10980601, PMID:12540842 ; - oboInOwl:hasDbXref UMLS:C1842851 ; oboInOwl:hasExactSynonym "breast tumor kinase substrate", "brk substrate", "signal-transducing adaptor protein 2", "stap2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55620 ; - skos:exactMatch HGNC_symbol:STAP2 ; + skos:exactMatch UMLS:C1842851, + HGNC:30430, + HGNC_symbol:STAP2 ; biolink:category biolink:Gene . OMIM:607882 a owl:Class ; @@ -244175,8 +253138,6 @@ OMIM:607882 a owl:Class ; PMID:30343981 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:614707 ; - oboInOwl:hasDbXref UMLS:C1539607, - UMLS:C3553538 ; oboInOwl:hasExactSynonym "SLC52A2", "flj11856", "g protein-coupled receptor 172a", @@ -244188,7 +253149,10 @@ OMIM:607882 a owl:Class ; "solute carrier family 52 (riboflavin transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79581 ; - skos:exactMatch HGNC_symbol:SLC52A2 ; + skos:exactMatch UMLS:C1539607, + UMLS:C3553538, + HGNC:30224, + HGNC_symbol:SLC52A2 ; biolink:category biolink:Gene . OMIM:607883 a owl:Class ; @@ -244200,7 +253164,6 @@ OMIM:607883 a owl:Class ; PMID:29122468 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:615026 ; - oboInOwl:hasDbXref UMLS:C1539608 ; oboInOwl:hasExactSynonym "SLC52A1", "flj10060", "g protein-coupled receptor 172b", @@ -244211,44 +253174,49 @@ OMIM:607883 a owl:Class ; "solute carrier family 52 (riboflavin transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55065 ; - skos:exactMatch HGNC_symbol:SLC52A1 ; + skos:exactMatch UMLS:C1539608, + HGNC:30225, + HGNC_symbol:SLC52A1 ; biolink:category biolink:Gene . OMIM:607884 a owl:Class ; rdfs:label "CMTM1" ; IAO:0000142 PMID:12782130, PMID:14672709 ; - oboInOwl:hasDbXref UMLS:C1426061 ; oboInOwl:hasExactSynonym "CMTM1", "chemokine-like factor superfamily, member 1", "cklf-like marvel transmembrane domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113540 ; - skos:exactMatch HGNC_symbol:CMTM1 ; + skos:exactMatch UMLS:C1426061, + HGNC:19172, + HGNC_symbol:CMTM1 ; biolink:category biolink:Gene . OMIM:607885 a owl:Class ; rdfs:label "CMTM2" ; IAO:0000142 PMID:12782130 ; - oboInOwl:hasDbXref UMLS:C1426062 ; oboInOwl:hasExactSynonym "CMTM2", "chemokine-like factor superfamily, member 2", "cklf-like marvel transmembrane domain-containing 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146225 ; - skos:exactMatch HGNC_symbol:CMTM2 ; + skos:exactMatch UMLS:C1426062, + HGNC:19173, + HGNC_symbol:CMTM2 ; biolink:category biolink:Gene . OMIM:607886 a owl:Class ; rdfs:label "CMTM3" ; IAO:0000142 PMID:12782130 ; - oboInOwl:hasDbXref UMLS:C1426063 ; oboInOwl:hasExactSynonym "CMTM3", "chemokine-like factor superfamily, member 3", "cklf-like marvel transmembrane domain-containing 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123920 ; - skos:exactMatch HGNC_symbol:CMTM3 ; + skos:exactMatch UMLS:C1426063, + HGNC:19174, + HGNC_symbol:CMTM3 ; biolink:category biolink:Gene . OMIM:607887 a owl:Class ; @@ -244256,25 +253224,27 @@ OMIM:607887 a owl:Class ; IAO:0000142 PMID:12782130, PMID:15616564, PMID:28813410 ; - oboInOwl:hasDbXref UMLS:C1426064 ; oboInOwl:hasExactSynonym "CMTM4", "chemokine-like factor superfamily, member 4", "cklf-like marvel transmembrane domain-containing 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146223 ; - skos:exactMatch HGNC_symbol:CMTM4 ; + skos:exactMatch UMLS:C1426064, + HGNC:19175, + HGNC_symbol:CMTM4 ; biolink:category biolink:Gene . OMIM:607888 a owl:Class ; rdfs:label "CMTM5" ; IAO:0000142 PMID:12782130 ; - oboInOwl:hasDbXref UMLS:C1426065 ; oboInOwl:hasExactSynonym "CMTM5", "chemokine-like factor superfamily, member 5", "cklf-like marvel transmembrane domain-containing 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116173 ; - skos:exactMatch HGNC_symbol:CMTM5 ; + skos:exactMatch UMLS:C1426065, + HGNC:19176, + HGNC_symbol:CMTM5 ; biolink:category biolink:Gene . OMIM:607889 a owl:Class ; @@ -244282,37 +253252,40 @@ OMIM:607889 a owl:Class ; IAO:0000142 PMID:12782130, PMID:28813410, PMID:28813417 ; - oboInOwl:hasDbXref UMLS:C1426066 ; oboInOwl:hasExactSynonym "CMTM6", "chemokine-like factor superfamily, member 6", "cklf-like marvel transmembrane domain-containing 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54918 ; - skos:exactMatch HGNC_symbol:CMTM6 ; + skos:exactMatch UMLS:C1426066, + HGNC:19177, + HGNC_symbol:CMTM6 ; biolink:category biolink:Gene . OMIM:607890 a owl:Class ; rdfs:label "CMTM7" ; IAO:0000142 PMID:12782130 ; - oboInOwl:hasDbXref UMLS:C1426067 ; oboInOwl:hasExactSynonym "CMTM7", "chemokine-like factor superfamily, member 7", "cklf-like marvel transmembrane domain-containing 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112616 ; - skos:exactMatch HGNC_symbol:CMTM7 ; + skos:exactMatch UMLS:C1426067, + HGNC:19178, + HGNC_symbol:CMTM7 ; biolink:category biolink:Gene . OMIM:607891 a owl:Class ; rdfs:label "CMTM8" ; IAO:0000142 PMID:12782130 ; - oboInOwl:hasDbXref UMLS:C1426068 ; oboInOwl:hasExactSynonym "CMTM8", "chemokine-like factor superfamily, member 8", "cklf-like marvel transmembrane domain-containing 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152189 ; - skos:exactMatch HGNC_symbol:CMTM8 ; + skos:exactMatch UMLS:C1426068, + HGNC:19179, + HGNC_symbol:CMTM8 ; biolink:category biolink:Gene . OMIM:607892 a owl:Class ; @@ -244327,12 +253300,13 @@ OMIM:607892 a owl:Class ; PMID:17392831 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:607903 ; - oboInOwl:hasDbXref UMLS:C1427484 ; oboInOwl:hasExactSynonym "DSG4", "desmoglein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147409 ; - skos:exactMatch HGNC_symbol:DSG4 ; + skos:exactMatch UMLS:C1427484, + HGNC:21307, + HGNC_symbol:DSG4 ; biolink:category biolink:Gene . OMIM:607894 a owl:Class ; @@ -244341,38 +253315,41 @@ OMIM:607894 a owl:Class ; PMID:12782129, PMID:15203210, PMID:19578180 ; - oboInOwl:hasDbXref UMLS:C1427712 ; oboInOwl:hasExactSynonym "PKD1L2", "kiaa1879", "pc1l2", "polycystin 1-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114780 ; - skos:exactMatch HGNC_symbol:PKD1L2 ; + skos:exactMatch UMLS:C1427712, + HGNC:21715, + HGNC_symbol:PKD1L2 ; biolink:category biolink:Gene . OMIM:607895 a owl:Class ; rdfs:label "PKD1L3" ; IAO:0000142 PMID:12782129, PMID:16891422 ; - oboInOwl:hasDbXref UMLS:C1427713 ; oboInOwl:hasExactSynonym "PKD1L3", "polycystin 1-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342372 ; - skos:exactMatch HGNC_symbol:PKD1L3 ; + skos:exactMatch UMLS:C1427713, + HGNC:21716, + HGNC_symbol:PKD1L3 ; biolink:category biolink:Gene . OMIM:607896 a owl:Class ; rdfs:label "OVCA2" ; IAO:0000142 PMID:8616839 ; - oboInOwl:hasDbXref UMLS:C1842848 ; oboInOwl:hasExactSynonym "OVCA2", "ovarian cancer-associated gene 2", "ovca2 serine hydrolase domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124641 ; - skos:exactMatch HGNC_symbol:OVCA2 ; + skos:exactMatch UMLS:C1842848, + HGNC:24203, + HGNC_symbol:OVCA2 ; biolink:category biolink:Gene . OMIM:607897 a owl:Class ; @@ -244383,14 +253360,15 @@ OMIM:607897 a owl:Class ; PMID:20639863, PMID:27121842, PMID:28514443 ; - oboInOwl:hasDbXref UMLS:C1425623 ; oboInOwl:hasExactSynonym "MSI2", "msi2/hoxa9 fusion gene", "musashi RNA binding protein 2", "musashi, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124540 ; - skos:exactMatch HGNC_symbol:MSI2 ; + skos:exactMatch UMLS:C1425623, + HGNC:18585, + HGNC_symbol:MSI2 ; biolink:category biolink:Gene . OMIM:607898 a owl:Class ; @@ -244400,7 +253378,6 @@ OMIM:607898 a owl:Class ; PMID:15299019, PMID:16794074, PMID:21220698 ; - oboInOwl:hasDbXref UMLS:C1540055 ; oboInOwl:hasExactSynonym "TRIB3", "chromosome 20 open reading frame 97", "nerve growth factor-induced protein kinase", @@ -244411,7 +253388,9 @@ OMIM:607898 a owl:Class ; "tribbles, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57761 ; - skos:exactMatch HGNC_symbol:TRIB3 ; + skos:exactMatch UMLS:C1540055, + HGNC:16228, + HGNC_symbol:TRIB3 ; biolink:category biolink:Gene . OMIM:607899 a owl:Class ; @@ -244421,13 +253400,14 @@ OMIM:607899 a owl:Class ; PMID:8208551, PMID:8290269, PMID:8414514 ; - oboInOwl:hasDbXref UMLS:C1823861 ; oboInOwl:hasExactSynonym "WT1AS", "wit1 gene", "wt1 antisense RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51352 ; - skos:exactMatch HGNC_symbol:WT1-AS ; + skos:exactMatch UMLS:C1823861, + HGNC:18135, + HGNC_symbol:WT1-AS ; biolink:category biolink:Gene . OMIM:607900 a owl:Class ; @@ -244439,7 +253419,6 @@ OMIM:607900 a owl:Class ; PMID:21309038 ; RO:0002525 CHR:9606chr20p12.3 ; RO:0003303 OMIM:173650 ; - oboInOwl:hasDbXref UMLS:C1423809 ; oboInOwl:hasExactSynonym "FERMT1", "chromosome 20 open reading frame 42", "fermitin family, member 1", @@ -244448,7 +253427,9 @@ OMIM:607900 a owl:Class ; "unc112-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55612 ; - skos:exactMatch HGNC_symbol:FERMT1 ; + skos:exactMatch UMLS:C1423809, + HGNC:15889, + HGNC_symbol:FERMT1 ; biolink:category biolink:Gene . OMIM:607901 a owl:Class ; @@ -244469,7 +253450,6 @@ OMIM:607901 a owl:Class ; PMID:21441448 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:612840 ; - oboInOwl:hasDbXref UMLS:C1842840 ; oboInOwl:hasExactSynonym "FERMT3", "fermitin family, member 3", "kindlin 3", @@ -244477,7 +253457,9 @@ OMIM:607901 a owl:Class ; "unc112-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83706 ; - skos:exactMatch HGNC_symbol:FERMT3 ; + skos:exactMatch UMLS:C1842840, + HGNC:23151, + HGNC_symbol:FERMT3 ; biolink:category biolink:Gene . OMIM:607902 a owl:Class ; @@ -244486,13 +253468,14 @@ OMIM:607902 a owl:Class ; PMID:19339969, PMID:19389996, PMID:9670026 ; - oboInOwl:hasDbXref UMLS:C1823075 ; oboInOwl:hasExactSynonym "SNUPN", "rna, u transporter 1", "snurportin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10073 ; - skos:exactMatch HGNC_symbol:SNUPN ; + skos:exactMatch UMLS:C1823075, + HGNC:14245, + HGNC_symbol:SNUPN ; biolink:category biolink:Gene . OMIM:607904 a owl:Class ; @@ -244514,12 +253497,13 @@ OMIM:607904 a owl:Class ; PMID:9930755 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:611942 ; - oboInOwl:hasDbXref UMLS:C1413062 ; oboInOwl:hasExactSynonym "CACNA1H", "calcium channel, voltage-dependent, t type, alpha-1h subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8912 ; - skos:exactMatch HGNC_symbol:CACNA1H ; + skos:exactMatch UMLS:C1413062, + HGNC:1395, + HGNC_symbol:CACNA1H ; biolink:category biolink:Gene . OMIM:607905 a owl:Class ; @@ -244530,23 +253514,24 @@ OMIM:607905 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chr9q22.33 ; RO:0003303 OMIM:616228 ; - oboInOwl:hasDbXref UMLS:C1427955 ; oboInOwl:hasExactSynonym "ALG2", "alg2 alpha-1,3/1,6-mannosyltransferase", "alg2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85365 ; - skos:exactMatch HGNC_symbol:ALG2 ; + skos:exactMatch UMLS:C1427955, + HGNC:23159, + HGNC_symbol:ALG2 ; biolink:category biolink:Gene . OMIM:607906 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia ii" ; IAO:0000142 PMID:12684507 ; - oboInOwl:hasDbXref UMLS:C1842836 ; oboInOwl:hasExactSynonym "CDG1I", "cdg ii", "congenital disorder of glycosylation, iia ii" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C1842836 ; biolink:category biolink:Disease . OMIM:607907 a owl:Class ; @@ -244561,10 +253546,10 @@ OMIM:607907 a owl:Class ; PMID:17478383, PMID:8988177, PMID:9738795 ; - oboInOwl:hasDbXref UMLS:C3693482 ; oboInOwl:hasExactSynonym "DFSP", "dermatofibrosarcoma protuberans", "giant cell fibroblastoma" ; + skos:exactMatch UMLS:C3693482 ; biolink:category biolink:Disease . OMIM:607908 a owl:Class ; @@ -244575,52 +253560,56 @@ OMIM:607908 a owl:Class ; PMID:25589244 ; RO:0002525 CHR:9606chr2q14.3 ; RO:0003303 OMIM:616827 ; - oboInOwl:hasDbXref UMLS:C1423965 ; oboInOwl:hasExactSynonym "LIMS2", "lim and senescent cell antigen-like domains 2", "lim zinc finger domain-containing protein 2", "particularly interesting new cys-his protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55679 ; - skos:exactMatch HGNC_symbol:LIMS2 ; + skos:exactMatch UMLS:C1423965, + HGNC:16084, + HGNC_symbol:LIMS2 ; biolink:category biolink:Gene . OMIM:607909 a owl:Class ; rdfs:label "AZIN1" ; IAO:0000142 PMID:19077035, PMID:9349715 ; - oboInOwl:hasDbXref UMLS:C1538311 ; oboInOwl:hasExactSynonym "AZIN1", "antizyme inhibitor 1", "ornithine decarboxylase antizyme inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51582 ; - skos:exactMatch HGNC_symbol:AZIN1 ; + skos:exactMatch UMLS:C1538311, + HGNC:16432, + HGNC_symbol:AZIN1 ; biolink:category biolink:Gene . OMIM:607910 a owl:Class ; rdfs:label "KIF9" ; IAO:0000142 PMID:11483511 ; - oboInOwl:hasDbXref UMLS:C1424476 ; oboInOwl:hasExactSynonym "KIF9", "kinesin family member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64147 ; - skos:exactMatch HGNC_symbol:KIF9 ; + skos:exactMatch UMLS:C1424476, + HGNC:16666, + HGNC_symbol:KIF9 ; biolink:category biolink:Gene . OMIM:607911 a owl:Class ; rdfs:label "EPM2AIP1" ; IAO:0000142 PMID:12782127, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1426372 ; oboInOwl:hasExactSynonym "EPM2AIP1", "epm2a-interacting protein 1", "kiaa0766", "laforin-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9852 ; - skos:exactMatch HGNC_symbol:EPM2AIP1 ; + skos:exactMatch UMLS:C1426372, + HGNC:19735, + HGNC_symbol:EPM2AIP1 ; biolink:category biolink:Gene . OMIM:607912 a owl:Class ; @@ -244628,38 +253617,41 @@ OMIM:607912 a owl:Class ; IAO:0000142 PMID:10567350, PMID:12775843, PMID:17503775 ; - oboInOwl:hasDbXref UMLS:C1842835 ; oboInOwl:hasExactSynonym "SELENOT", "selenoprotein t", "selt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51714 ; - skos:exactMatch HGNC_symbol:SELENOT ; + skos:exactMatch UMLS:C1842835, + HGNC:18136, + HGNC_symbol:SELENOT ; biolink:category biolink:Gene . OMIM:607913 a owl:Class ; rdfs:label "GPX6" ; IAO:0000142 PMID:10567350, PMID:12775843 ; - oboInOwl:hasDbXref UMLS:C1415280 ; oboInOwl:hasExactSynonym "GPX6", "glutathione peroxidase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257202 ; - skos:exactMatch HGNC_symbol:GPX6 ; + skos:exactMatch UMLS:C1415280, + HGNC:4558, + HGNC_symbol:GPX6 ; biolink:category biolink:Gene . OMIM:607914 a owl:Class ; rdfs:label "SELENOH" ; IAO:0000142 PMID:10567350, PMID:12775843 ; - oboInOwl:hasDbXref UMLS:C1425397 ; oboInOwl:hasExactSynonym "SELENOH", "selenoprotein h", "selh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:280636 ; - skos:exactMatch HGNC_symbol:SELENOH ; + skos:exactMatch UMLS:C1425397, + HGNC:18251, + HGNC_symbol:SELENOH ; biolink:category biolink:Gene . OMIM:607915 a owl:Class ; @@ -244670,15 +253662,16 @@ OMIM:607915 a owl:Class ; PMID:29500230 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:618768 ; - oboInOwl:hasDbXref UMLS:C1842834, - UMLS:C5394033 ; oboInOwl:hasExactSynonym "SELENOI", "ethanolaminephosphotransferase 1", "selenoprotein 1", "seli" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85465 ; - skos:exactMatch HGNC_symbol:SELENOI ; + skos:exactMatch UMLS:C1842834, + UMLS:C5394033, + HGNC:29361, + HGNC_symbol:SELENOI ; biolink:category biolink:Gene . OMIM:607916 a owl:Class ; @@ -244688,27 +253681,29 @@ OMIM:607916 a owl:Class ; PMID:12775843, PMID:21220695, PMID:25368151 ; - oboInOwl:hasDbXref UMLS:C1842833 ; oboInOwl:hasExactSynonym "SELENOK", "hspc030", "selenoprotein k", "selk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58515 ; - skos:exactMatch HGNC_symbol:SELENOK ; + skos:exactMatch UMLS:C1842833, + HGNC:30394, + HGNC_symbol:SELENOK ; biolink:category biolink:Gene . OMIM:607917 a owl:Class ; rdfs:label "SELENOO" ; IAO:0000142 PMID:10567350, PMID:12775843 ; - oboInOwl:hasDbXref UMLS:C1842832 ; oboInOwl:hasExactSynonym "SELENOO", "selenoprotein o", "selo" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83642 ; - skos:exactMatch HGNC_symbol:SELENOO ; + skos:exactMatch UMLS:C1842832, + HGNC:30395, + HGNC_symbol:SELENOO ; biolink:category biolink:Gene . OMIM:607918 a owl:Class ; @@ -244723,7 +253718,6 @@ OMIM:607918 a owl:Class ; PMID:17880573, PMID:18625033, PMID:19398551 ; - oboInOwl:hasDbXref UMLS:C1842829 ; oboInOwl:hasExactSynonym "SELENOS", "ad-015", "selenoprotein s", @@ -244732,20 +253726,23 @@ OMIM:607918 a owl:Class ; "vcp-interacting membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55829 ; - skos:exactMatch HGNC_symbol:SELENOS ; + skos:exactMatch UMLS:C1842829, + HGNC:30396, + HGNC_symbol:SELENOS ; biolink:category biolink:Gene . OMIM:607919 a owl:Class ; rdfs:label "SELENOV" ; IAO:0000142 PMID:10567350, PMID:12775843 ; - oboInOwl:hasDbXref UMLS:C1842828 ; oboInOwl:hasExactSynonym "SELENOV", "selenoprotein 5", "selv" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348303 ; - skos:exactMatch HGNC_symbol:SELENOV ; + skos:exactMatch UMLS:C1842828, + HGNC:30399, + HGNC_symbol:SELENOV ; biolink:category biolink:Gene . OMIM:607920 a owl:Class ; @@ -244773,7 +253770,6 @@ OMIM:607922 a owl:Class ; PMID:9920164 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:111400 ; - oboInOwl:hasDbXref UMLS:C1425345 ; oboInOwl:hasExactSynonym "4-n-acetylglucosaminyltransferase", "A4GALT", "alpha-1,4-galactosyltransferase", @@ -244782,7 +253778,9 @@ OMIM:607922 a owl:Class ; "p(k) antigen synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53947 ; - skos:exactMatch HGNC_symbol:A4GALT ; + skos:exactMatch UMLS:C1425345, + HGNC:18149, + HGNC_symbol:A4GALT ; biolink:category biolink:Gene . OMIM:607923 a owl:Class ; @@ -244790,14 +253788,15 @@ OMIM:607923 a owl:Class ; IAO:0000142 PMID:12493563, PMID:1607933, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1423112 ; oboInOwl:hasExactSynonym "SNAP91", "assembly protein, 180-kd", "kiaa0656", "synaptosomal-associated protein, 91-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9892 ; - skos:exactMatch HGNC_symbol:SNAP91 ; + skos:exactMatch UMLS:C1423112, + HGNC:14986, + HGNC_symbol:SNAP91 ; biolink:category biolink:Gene . OMIM:607924 a owl:Class ; @@ -244811,7 +253810,6 @@ OMIM:607924 a owl:Class ; PMID:32238924, PMID:7987395, PMID:9253601 ; - oboInOwl:hasDbXref UMLS:C1537647 ; oboInOwl:hasExactSynonym "MALAT1", "alpha gene", "alpha/tfeb fusion gene", @@ -244822,7 +253820,9 @@ OMIM:607924 a owl:Class ; "pro1073" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:378938 ; - skos:exactMatch HGNC_symbol:MALAT1 ; + skos:exactMatch UMLS:C1537647, + HGNC:29665, + HGNC_symbol:MALAT1 ; biolink:category biolink:Gene . OMIM:607925 a owl:Class ; @@ -244831,25 +253831,27 @@ OMIM:607925 a owl:Class ; PMID:15568026, PMID:15647361, PMID:18519647 ; - oboInOwl:hasDbXref UMLS:C1427306 ; oboInOwl:hasExactSynonym "BTLA", "b- and t-lymphocyte attenuator", "b- and t-lymphocyte-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151888 ; - skos:exactMatch HGNC_symbol:BTLA ; + skos:exactMatch UMLS:C1427306, + HGNC:21087, + HGNC_symbol:BTLA ; biolink:category biolink:Gene . OMIM:607926 a owl:Class ; rdfs:label "HCFC2" ; IAO:0000142 PMID:10196288 ; - oboInOwl:hasDbXref UMLS:C1539631 ; oboInOwl:hasExactSynonym "HCFC2", "hcf2", "host cell factor c2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29915 ; - skos:exactMatch HGNC_symbol:HCFC2 ; + skos:exactMatch UMLS:C1539631, + HGNC:24972, + HGNC_symbol:HCFC2 ; biolink:category biolink:Gene . OMIM:607927 a owl:Class ; @@ -244858,14 +253860,15 @@ OMIM:607927 a owl:Class ; PMID:10574462, PMID:10940552, PMID:29959197 ; - oboInOwl:hasDbXref UMLS:C1427119 ; oboInOwl:hasExactSynonym "ANKFY1", "ankyrin repeats hooked to a zinc finger motif", "ankyrin repeats- and fyve domain-containing protein 1", "kiaa1255" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51479 ; - skos:exactMatch HGNC_symbol:ANKFY1 ; + skos:exactMatch UMLS:C1427119, + HGNC:20763, + HGNC_symbol:ANKFY1 ; biolink:category biolink:Gene . OMIM:607928 a owl:Class ; @@ -244885,14 +253888,15 @@ OMIM:607928 a owl:Class ; PMID:22147658 ; RO:0002525 CHR:9606chr9q32 ; RO:0003303 OMIM:611383 ; - oboInOwl:hasDbXref UMLS:C1424217 ; oboInOwl:hasExactSynonym "WHRN", "cask-interacting protein, 98-kd", "kiaa1526", "whirlin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25861 ; - skos:exactMatch HGNC_symbol:WHRN ; + skos:exactMatch UMLS:C1424217, + HGNC:16361, + HGNC_symbol:WHRN ; biolink:category biolink:Gene . OMIM:607929 a owl:Class ; @@ -244917,7 +253921,6 @@ OMIM:607929 a owl:Class ; PMID:9811928 ; RO:0002525 CHR:9606chr7p13 ; RO:0003303 OMIM:603284 ; - oboInOwl:hasDbXref UMLS:C1427709 ; oboInOwl:hasExactSynonym "CCM2", "ccm2 gene", "ccm2 scaffold protein", @@ -244927,7 +253930,9 @@ OMIM:607929 a owl:Class ; "osmosensing scaffold for mekk3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83605 ; - skos:exactMatch HGNC_symbol:CCM2 ; + skos:exactMatch UMLS:C1427709, + HGNC:21708, + HGNC_symbol:CCM2 ; biolink:category biolink:Gene . OMIM:607930 a owl:Class ; @@ -244935,24 +253940,26 @@ OMIM:607930 a owl:Class ; IAO:0000142 PMID:10857752, PMID:17644814, PMID:21652695 ; - oboInOwl:hasDbXref UMLS:C1539216 ; oboInOwl:hasExactSynonym "CYTL1", "c17", "cytokine-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54360 ; - skos:exactMatch HGNC_symbol:CYTL1 ; + skos:exactMatch UMLS:C1539216, + HGNC:24435, + HGNC_symbol:CYTL1 ; biolink:category biolink:Gene . OMIM:607931 a owl:Class ; rdfs:label "ATXN2L" ; IAO:0000142 PMID:11784712 ; - oboInOwl:hasDbXref UMLS:C1538300 ; oboInOwl:hasExactSynonym "ATXN2L", "ataxin 2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11273 ; - skos:exactMatch HGNC_symbol:ATXN2L ; + skos:exactMatch UMLS:C1538300, + HGNC:31326, + HGNC_symbol:ATXN2L ; biolink:category biolink:Gene . OMIM:607933 a owl:Class ; @@ -244962,13 +253969,14 @@ OMIM:607933 a owl:Class ; PMID:18469825, PMID:25799988, PMID:32241947 ; - oboInOwl:hasDbXref UMLS:C1420222 ; oboInOwl:hasExactSynonym "SLC7A11", "solute carrier family 7 (cationic amino acid transporter, y+ system), member 11", "system xc(-) transporter-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23657 ; - skos:exactMatch HGNC_symbol:SLC7A11 ; + skos:exactMatch UMLS:C1420222, + HGNC:11059, + HGNC_symbol:SLC7A11 ; biolink:category biolink:Gene . OMIM:607934 a owl:Class ; @@ -244976,12 +253984,13 @@ OMIM:607934 a owl:Class ; IAO:0000142 PMID:12416996, PMID:12833157, PMID:15150696 ; - oboInOwl:hasDbXref UMLS:C1425477 ; oboInOwl:hasExactSynonym "PADI1", "peptidylarginine deiminase, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29943 ; - skos:exactMatch HGNC_symbol:PADI1 ; + skos:exactMatch UMLS:C1425477, + HGNC:18367, + HGNC_symbol:PADI1 ; biolink:category biolink:Gene . OMIM:607935 a owl:Class ; @@ -244989,12 +253998,13 @@ OMIM:607935 a owl:Class ; IAO:0000142 PMID:12392711, PMID:12833157, PMID:2768262 ; - oboInOwl:hasDbXref UMLS:C1425460 ; oboInOwl:hasExactSynonym "PADI2", "peptidylarginine deiminase, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11240 ; - skos:exactMatch HGNC_symbol:PADI2 ; + skos:exactMatch UMLS:C1425460, + HGNC:18341, + HGNC_symbol:PADI2 ; biolink:category biolink:Gene . OMIM:607937 a owl:Class ; @@ -245021,14 +254031,15 @@ OMIM:607937 a owl:Class ; PMID:23883933, PMID:24056933, PMID:26751055 ; - oboInOwl:hasDbXref UMLS:C1427164 ; oboInOwl:hasExactSynonym "NANOG", "flj12581", "homeobox transcription factor nanog", "nanog homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79923 ; - skos:exactMatch HGNC_symbol:NANOG ; + skos:exactMatch UMLS:C1427164, + HGNC:20857, + HGNC_symbol:NANOG ; biolink:category biolink:Gene . OMIM:607938 a owl:Class ; @@ -245036,14 +254047,15 @@ OMIM:607938 a owl:Class ; IAO:0000142 PMID:12819783, PMID:23054244, PMID:7891157 ; - oboInOwl:hasDbXref UMLS:C1842796 ; oboInOwl:hasExactSynonym "NTM", "hnt", "iglon2", "neurotrimin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50863 ; - skos:exactMatch HGNC_symbol:NTM ; + skos:exactMatch UMLS:C1842796, + HGNC:17941, + HGNC_symbol:NTM ; biolink:category biolink:Gene . OMIM:607939 a owl:Class ; @@ -245057,26 +254069,28 @@ OMIM:607939 a owl:Class ; PMID:3100114 ; RO:0002525 CHR:9606chr3p26.1 ; RO:0003303 OMIM:272200 ; - oboInOwl:hasDbXref UMLS:C1539893 ; oboInOwl:hasExactSynonym "SUMF1", "c-alpha-formylglycine-generating enzyme", "fgly-generating enzyme", "sulfatase-modifying factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285362 ; - skos:exactMatch HGNC_symbol:SUMF1 ; + skos:exactMatch UMLS:C1539893, + HGNC:20376, + HGNC_symbol:SUMF1 ; biolink:category biolink:Gene . OMIM:607940 a owl:Class ; rdfs:label "SUMF2" ; IAO:0000142 PMID:12757705, PMID:12757706 ; - oboInOwl:hasDbXref UMLS:C1539894 ; oboInOwl:hasExactSynonym "SUMF2", "sulfatase-modifying factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25870 ; - skos:exactMatch HGNC_symbol:SUMF2 ; + skos:exactMatch UMLS:C1539894, + HGNC:20415, + HGNC_symbol:SUMF2 ; biolink:category biolink:Gene . OMIM:607941 a owl:Class ; @@ -245086,10 +254100,10 @@ OMIM:607941 a owl:Class ; PMID:18055909, PMID:20347099, PMID:20659440 ; - oboInOwl:hasDbXref UMLS:C1842778 ; oboInOwl:hasExactSynonym "ASD2", "atrial septal defect 2" ; rdfs:subClassOf OMIMPS:108800 ; + skos:exactMatch UMLS:C1842778 ; biolink:category biolink:Disease . OMIM:607942 a owl:Class ; @@ -245097,7 +254111,6 @@ OMIM:607942 a owl:Class ; IAO:0000142 PMID:11163197, PMID:11877477, PMID:12833156 ; - oboInOwl:hasDbXref UMLS:C1538646 ; oboInOwl:hasExactSynonym "PIK3AP1", "b-cell adaptor protein", "flj35564", @@ -245105,7 +254118,9 @@ OMIM:607942 a owl:Class ; "pik3 adaptor protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118788 ; - skos:exactMatch HGNC_symbol:PIK3AP1 ; + skos:exactMatch UMLS:C1538646, + HGNC:30034, + HGNC_symbol:PIK3AP1 ; biolink:category biolink:Gene . OMIM:607943 a owl:Class ; @@ -245114,7 +254129,6 @@ OMIM:607943 a owl:Class ; PMID:11594756, PMID:12845332, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1427971 ; oboInOwl:hasExactSynonym "RASA4", "ca(2+)-promoted ras inactivator", "calcium-ras promoted inactivator", @@ -245123,7 +254137,9 @@ OMIM:607943 a owl:Class ; "ras p21 protein activator 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10156 ; - skos:exactMatch HGNC_symbol:RASA4 ; + skos:exactMatch UMLS:C1427971, + HGNC:23181, + HGNC_symbol:RASA4 ; biolink:category biolink:Gene . OMIM:607945 a owl:Class ; @@ -245136,14 +254152,15 @@ OMIM:607945 a owl:Class ; PMID:25855295, PMID:26662040, PMID:28329765 ; - oboInOwl:hasDbXref UMLS:C1540188 ; oboInOwl:hasExactSynonym "ADIPOR1", "adiponectin receptor 1", "cgi45", "progestin and adipoq receptor family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51094 ; - skos:exactMatch HGNC_symbol:ADIPOR1 ; + skos:exactMatch UMLS:C1540188, + HGNC:24040, + HGNC_symbol:ADIPOR1 ; biolink:category biolink:Gene . OMIM:607946 a owl:Class ; @@ -245154,38 +254171,41 @@ OMIM:607946 a owl:Class ; PMID:21186369, PMID:25855295, PMID:28329765 ; - oboInOwl:hasDbXref UMLS:C1540189 ; oboInOwl:hasExactSynonym "ADIPOR2", "adiponectin receptor 2", "progestin and adipoq receptor family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79602 ; - skos:exactMatch HGNC_symbol:ADIPOR2 ; + skos:exactMatch UMLS:C1540189, + HGNC:24041, + HGNC_symbol:ADIPOR2 ; biolink:category biolink:Gene . OMIM:607947 a owl:Class ; rdfs:label "KCNRG" ; IAO:0000142 PMID:12650944, PMID:15188451 ; - oboInOwl:hasDbXref UMLS:C1425861 ; oboInOwl:hasExactSynonym "KCNRG", "dltet", "potassium channel regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283518 ; - skos:exactMatch HGNC_symbol:KCNRG ; + skos:exactMatch UMLS:C1425861, + HGNC:18893, + HGNC_symbol:KCNRG ; biolink:category biolink:Gene . OMIM:607950 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10397268, PMID:11782390 ; - oboInOwl:hasDbXref UMLS:C1842761 ; oboInOwl:hasExactSynonym "testis-specific protease 50", "tsp50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29122 ; - skos:exactMatch HGNC_symbol:PRSS50 ; + skos:exactMatch UMLS:C1842761, + HGNC:17910, + HGNC_symbol:PRSS50 ; biolink:category biolink:Gene . OMIM:607951 a owl:Class ; @@ -245199,7 +254219,6 @@ OMIM:607951 a owl:Class ; PMID:7788527 ; RO:0002525 CHR:9606chr11q21 ; RO:0003303 OMIM:614114 ; - oboInOwl:hasDbXref UMLS:C1824710 ; oboInOwl:hasExactSynonym "CEP57", "centrosomal protein, 57-kd", "kiaa0092", @@ -245208,7 +254227,9 @@ OMIM:607951 a owl:Class ; "translokin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9702 ; - skos:exactMatch HGNC_symbol:CEP57 ; + skos:exactMatch UMLS:C1824710, + HGNC:30794, + HGNC_symbol:CEP57 ; biolink:category biolink:Gene . OMIM:607952 a owl:Class ; @@ -245216,42 +254237,45 @@ OMIM:607952 a owl:Class ; IAO:0000142 PMID:15829583, PMID:21048709, PMID:7874447 ; - oboInOwl:hasDbXref UMLS:C1420208 ; oboInOwl:hasExactSynonym "SLC6A11", "gaba transporter 3, rat, homolog of", "gaba transporter 4, mouse, homolog of", "solute carrier family 6 (neurotransmitter transporter, gaba), member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6538 ; - skos:exactMatch HGNC_symbol:SLC6A11 ; + skos:exactMatch UMLS:C1420208, + HGNC:11044, + HGNC_symbol:SLC6A11 ; biolink:category biolink:Gene . OMIM:607953 a owl:Class ; rdfs:label "TAGLN3" ; IAO:0000142 PMID:11238712, PMID:8015377 ; - oboInOwl:hasDbXref UMLS:C1539921 ; oboInOwl:hasExactSynonym "TAGLN3", "neuronal protein, 22-kd", "neuronal protein, 25-kd, rat, homolog of", "transgelin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29114 ; - skos:exactMatch HGNC_symbol:TAGLN3 ; + skos:exactMatch UMLS:C1539921, + HGNC:29868, + HGNC_symbol:TAGLN3 ; biolink:category biolink:Gene . OMIM:607954 a owl:Class ; rdfs:label "RANGRF" ; IAO:0000142 PMID:10811801, PMID:11290418 ; - oboInOwl:hasDbXref UMLS:C1842760 ; oboInOwl:hasExactSynonym "RANGRF", "mog1, s. cerevisiae, homolog of", "ran guanine nucleotide release factor", "rangnrf" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29098 ; - skos:exactMatch HGNC_symbol:RANGRF ; + skos:exactMatch UMLS:C1842760, + HGNC:17679, + HGNC_symbol:RANGRF ; biolink:category biolink:Gene . OMIM:607955 a owl:Class ; @@ -245270,16 +254294,17 @@ OMIM:607955 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr6q24.3-q25.1 ; RO:0003303 OMIM:127500 ; - oboInOwl:hasDbXref UMLS:C1426071, - UMLS:C2675711, - UMLS:C5193062 ; oboInOwl:hasExactSynonym "SASH1", "kiaa0790", "sam- and sh3 domain-containing protein 1", "sterile alpha motif- and sh3 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23328 ; - skos:exactMatch HGNC_symbol:SASH1 ; + skos:exactMatch UMLS:C1426071, + UMLS:C2675711, + UMLS:C5193062, + HGNC:19182, + HGNC_symbol:SASH1 ; biolink:category biolink:Gene . OMIM:607956 a owl:Class ; @@ -245287,38 +254312,41 @@ OMIM:607956 a owl:Class ; IAO:0000142 PMID:12149480, PMID:15175163, PMID:20720539 ; - oboInOwl:hasDbXref UMLS:C1426572 ; oboInOwl:hasExactSynonym "MED8", "mediator complex subunit 8", "mediator of RNA polymerase 2 transcription, subunit 8, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112950 ; - skos:exactMatch HGNC_symbol:MED8 ; + skos:exactMatch UMLS:C1426572, + HGNC:19971, + HGNC_symbol:MED8 ; biolink:category biolink:Gene . OMIM:607957 a owl:Class ; rdfs:label "CAMK1D" ; IAO:0000142 PMID:11050006 ; - oboInOwl:hasDbXref UMLS:C1426175 ; oboInOwl:hasExactSynonym "CAMK1D", "calcium/calmodulin-dependent protein kinase i-delta", "camk1-like protein kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57118 ; - skos:exactMatch HGNC_symbol:CAMK1D ; + skos:exactMatch UMLS:C1426175, + HGNC:19341, + HGNC_symbol:CAMK1D ; biolink:category biolink:Gene . OMIM:607958 a owl:Class ; rdfs:label "STXBP6" ; IAO:0000142 PMID:12145319 ; - oboInOwl:hasDbXref UMLS:C1426316 ; oboInOwl:hasExactSynonym "STXBP6", "amisyn", "hspc156", "syntaxin-binding protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29091 ; - skos:exactMatch HGNC_symbol:STXBP6 ; + skos:exactMatch UMLS:C1426316, + HGNC:19666, + HGNC_symbol:STXBP6 ; biolink:category biolink:Gene . OMIM:607959 a owl:Class ; @@ -245326,27 +254354,29 @@ OMIM:607959 a owl:Class ; IAO:0000142 PMID:10734121, PMID:10863037, PMID:25755256 ; - oboInOwl:hasDbXref UMLS:C1420221 ; oboInOwl:hasExactSynonym "SLC7A10", "asc1", "solute carrier family 7 (cationic amino acid transporter, y+ system), member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56301 ; - skos:exactMatch HGNC_symbol:SLC7A10 ; + skos:exactMatch UMLS:C1420221, + HGNC:11058, + HGNC_symbol:SLC7A10 ; biolink:category biolink:Gene . OMIM:607960 a owl:Class ; rdfs:label "DHX32" ; IAO:0000142 PMID:12163057, PMID:12527204 ; - oboInOwl:hasDbXref UMLS:C1424503 ; oboInOwl:hasExactSynonym "DHX32", "ddx32", "deah-box helicase 32, putative", "deah-box polypeptide 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55760 ; - skos:exactMatch HGNC_symbol:DHX32 ; + skos:exactMatch UMLS:C1424503, + HGNC:16717, + HGNC_symbol:DHX32 ; biolink:category biolink:Gene . OMIM:607961 a owl:Class ; @@ -245365,7 +254395,6 @@ OMIM:607961 a owl:Class ; PMID:9878861 ; RO:0002525 CHR:9606chr15q24.1 ; RO:0003303 OMIM:614745 ; - oboInOwl:hasDbXref UMLS:C1419959 ; oboInOwl:hasExactSynonym "SEMA7A", "cdw108", "semaphorin 50", @@ -245373,29 +254402,33 @@ OMIM:607961 a owl:Class ; "semaphorin k1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8482 ; - skos:exactMatch HGNC_symbol:SEMA7A ; + skos:exactMatch UMLS:C1419959, + HGNC:10741, + HGNC_symbol:SEMA7A ; biolink:category biolink:Gene . OMIM:607963 a owl:Class ; rdfs:label "MBD3L1" ; IAO:0000142 PMID:12504854 ; - oboInOwl:hasDbXref UMLS:C1423722 ; oboInOwl:hasExactSynonym "MBD3L1", "methyl-cpg binding domain protein 3-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85509 ; - skos:exactMatch HGNC_symbol:MBD3L1 ; + skos:exactMatch UMLS:C1423722, + HGNC:15774, + HGNC_symbol:MBD3L1 ; biolink:category biolink:Gene . OMIM:607964 a owl:Class ; rdfs:label "MBD3L2" ; IAO:0000142 PMID:12504854 ; - oboInOwl:hasDbXref UMLS:C1425580 ; oboInOwl:hasExactSynonym "MBD3L2", "methyl-cpg binding domain protein 3-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125997 ; - skos:exactMatch HGNC_symbol:MBD3L2 ; + skos:exactMatch UMLS:C1425580, + HGNC:18532, + HGNC_symbol:MBD3L2 ; biolink:category biolink:Gene . OMIM:607968 a owl:Class ; @@ -245410,42 +254443,44 @@ OMIM:607968 a owl:Class ; PMID:22353939 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:615986 ; - oboInOwl:hasDbXref UMLS:C1842747 ; oboInOwl:hasExactSynonym "bbs9 gene", "parathyroid hormone-responsive b1 gene", "pth-responsive b1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27241 ; - skos:exactMatch HGNC_symbol:BBS9 ; + skos:exactMatch UMLS:C1842747, + HGNC:30000, + HGNC_symbol:BBS9 ; biolink:category biolink:Gene . OMIM:607969 a owl:Class ; rdfs:label "CLK4" ; IAO:0000142 PMID:11170754 ; - oboInOwl:hasDbXref UMLS:C1422133 ; oboInOwl:hasExactSynonym "CLK4", "cdc-like kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57396 ; - skos:exactMatch HGNC_symbol:CLK4 ; + skos:exactMatch UMLS:C1422133, + HGNC:13659, + HGNC_symbol:CLK4 ; biolink:category biolink:Gene . OMIM:607970 a owl:Class ; rdfs:label "GPR135" ; IAO:0000142 PMID:14623098 ; - oboInOwl:hasDbXref UMLS:C1426588 ; oboInOwl:hasExactSynonym "GPR135", "g protein-coupled receptor 135" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64582 ; - skos:exactMatch HGNC_symbol:GPR135 ; + skos:exactMatch UMLS:C1426588, + HGNC:19991, + HGNC_symbol:GPR135 ; biolink:category biolink:Gene . OMIM:607971 a owl:Class ; rdfs:label "SLC6A15" ; IAO:0000142 PMID:11112352, PMID:16226721 ; - oboInOwl:hasDbXref UMLS:C1422111 ; oboInOwl:hasExactSynonym "SLC6A15", "sodium-coupled branched-chain amino acid transporter 1", "solute carrier family 6 (neurotransmitter transporter), member 15", @@ -245453,55 +254488,61 @@ OMIM:607971 a owl:Class ; "v7-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55117 ; - skos:exactMatch HGNC_symbol:SLC6A15 ; + skos:exactMatch UMLS:C1422111, + HGNC:13621, + HGNC_symbol:SLC6A15 ; biolink:category biolink:Gene . OMIM:607972 a owl:Class ; rdfs:label "SLC6A16" ; IAO:0000142 PMID:11112352 ; - oboInOwl:hasDbXref UMLS:C1422112 ; oboInOwl:hasExactSynonym "SLC6A16", "ntt5", "solute carrier family 6 (neurotransmitter transporter), member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28968 ; - skos:exactMatch HGNC_symbol:SLC6A16 ; + skos:exactMatch UMLS:C1422112, + HGNC:13622, + HGNC_symbol:SLC6A16 ; biolink:category biolink:Gene . OMIM:607973 a owl:Class ; rdfs:label "NETO1" ; IAO:0000142 PMID:11943477, PMID:12810072 ; - oboInOwl:hasDbXref UMLS:C1422217 ; oboInOwl:hasExactSynonym "NETO1", "brain-specific transmembrane protein 1", "neuropilin- and tolloid-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81832 ; - skos:exactMatch HGNC_symbol:NETO1 ; + skos:exactMatch UMLS:C1422217, + HGNC:13823, + HGNC_symbol:NETO1 ; biolink:category biolink:Gene . OMIM:607974 a owl:Class ; rdfs:label "NETO2" ; IAO:0000142 PMID:11943477 ; - oboInOwl:hasDbXref UMLS:C1422809 ; oboInOwl:hasExactSynonym "NETO2", "neuropilin- and tolloid-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81831 ; - skos:exactMatch HGNC_symbol:NETO2 ; + skos:exactMatch UMLS:C1422809, + HGNC:14644, + HGNC_symbol:NETO2 ; biolink:category biolink:Gene . OMIM:607975 a owl:Class ; rdfs:label "OSGIN1" ; IAO:0000142 PMID:11459809 ; - oboInOwl:hasDbXref UMLS:C1826517 ; oboInOwl:hasExactSynonym "OSGIN1", "oxidative stress-induced growth inhibitor 1", "pregnancy-induced growth inhibitor okl38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29948 ; - skos:exactMatch HGNC_symbol:OSGIN1 ; + skos:exactMatch UMLS:C1826517, + HGNC:30093, + HGNC_symbol:OSGIN1 ; biolink:category biolink:Gene . OMIM:607976 a owl:Class ; @@ -245511,7 +254552,6 @@ OMIM:607976 a owl:Class ; PMID:23303788 ; RO:0002525 CHR:9606chr20q11.21 ; RO:0003303 OMIM:612714 ; - oboInOwl:hasDbXref UMLS:C1424108 ; oboInOwl:hasExactSynonym "COX4I2", "cox iv-2", "cox4-2", @@ -245519,20 +254559,23 @@ OMIM:607976 a owl:Class ; "cytochrome c oxidase, subunit iv, isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84701 ; - skos:exactMatch HGNC_symbol:COX4I2 ; + skos:exactMatch UMLS:C1424108, + HGNC:16232, + HGNC_symbol:COX4I2 ; biolink:category biolink:Gene . OMIM:607977 a owl:Class ; rdfs:label "HECA" ; IAO:0000142 PMID:11696983 ; - oboInOwl:hasDbXref UMLS:C1427267 ; oboInOwl:hasExactSynonym "HECA", "hdc", "hdc homolog, cell cycle regulator", "headcase, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51696 ; - skos:exactMatch HGNC_symbol:HECA ; + skos:exactMatch UMLS:C1427267, + HGNC:21041, + HGNC_symbol:HECA ; biolink:category biolink:Gene . OMIM:607978 a owl:Class ; @@ -245540,24 +254583,26 @@ OMIM:607978 a owl:Class ; IAO:0000142 PMID:11536050, PMID:15381729, PMID:9140409 ; - oboInOwl:hasDbXref UMLS:C1419812 ; oboInOwl:hasExactSynonym "SAMSN1", "hematopoietic adaptor containing sh3 and sam domains 1", "sam domain, sh3 domain, and nuclear localization signals 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64092 ; - skos:exactMatch HGNC_symbol:SAMSN1 ; + skos:exactMatch UMLS:C1419812, + HGNC:10528, + HGNC_symbol:SAMSN1 ; biolink:category biolink:Gene . OMIM:607979 a owl:Class ; rdfs:label "SERHL" ; IAO:0000142 PMID:11352564 ; - oboInOwl:hasDbXref UMLS:C1422627 ; oboInOwl:hasExactSynonym "SERHL", "serine hydrolase-like, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94009 ; - skos:exactMatch HGNC_symbol:SERHL ; + skos:exactMatch UMLS:C1422627, + HGNC:14408, + HGNC_symbol:SERHL ; biolink:category biolink:Gene . OMIM:607980 a owl:Class ; @@ -245566,28 +254611,30 @@ OMIM:607980 a owl:Class ; PMID:12198123, PMID:18331822, PMID:24270810 ; - oboInOwl:hasDbXref UMLS:C1427672 ; oboInOwl:hasExactSynonym "TOMM7", "tom7", "translocase of outer mitochondrial membrane 7", "translocase of outer mitochondrial membrane 7, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54543 ; - skos:exactMatch HGNC_symbol:TOMM7 ; + skos:exactMatch UMLS:C1427672, + HGNC:21648, + HGNC_symbol:TOMM7 ; biolink:category biolink:Gene . OMIM:607981 a owl:Class ; rdfs:label "NUB1" ; IAO:0000142 PMID:11259415, PMID:12374762 ; - oboInOwl:hasDbXref UMLS:C1826485 ; oboInOwl:hasExactSynonym "NUB1", "nedd8 ultimate buster 1", "negative regulator of ubiquitin-like proteins 1", "ny-ren-18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51667 ; - skos:exactMatch HGNC_symbol:NUB1 ; + skos:exactMatch UMLS:C1826485, + HGNC:17623, + HGNC_symbol:NUB1 ; biolink:category biolink:Gene . OMIM:607982 a owl:Class ; @@ -245602,14 +254649,15 @@ OMIM:607982 a owl:Class ; PMID:30531813 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:616719 ; - oboInOwl:hasDbXref UMLS:C1422597 ; oboInOwl:hasExactSynonym "SCYL1", "n-terminal kinase-like", "scy1, s. cerevisiae, homolog of, 1", "scy1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57410 ; - skos:exactMatch HGNC_symbol:SCYL1 ; + skos:exactMatch UMLS:C1422597, + HGNC:14372, + HGNC_symbol:SCYL1 ; biolink:category biolink:Gene . OMIM:607983 a owl:Class ; @@ -245622,15 +254670,16 @@ OMIM:607983 a owl:Class ; PMID:631850 ; RO:0002525 CHR:9606chr1q24.2 ; RO:0003303 OMIM:231070 ; - oboInOwl:hasDbXref UMLS:C0432255, - UMLS:C1822658 ; oboInOwl:hasExactSynonym "GORAB", "golgin, rab6-interacting", "ntkl-binding protein 1", "scyl1-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92344 ; - skos:exactMatch HGNC_symbol:GORAB ; + skos:exactMatch UMLS:C0432255, + UMLS:C1822658, + HGNC:25676, + HGNC_symbol:GORAB ; biolink:category biolink:Gene . OMIM:607984 a owl:Class ; @@ -245642,13 +254691,14 @@ OMIM:607984 a owl:Class ; PMID:23643382 ; RO:0002525 CHR:9606chr5q31.3 ; RO:0003303 OMIM:615266 ; - oboInOwl:hasDbXref UMLS:C1423560 ; oboInOwl:hasExactSynonym "SPRY4", "sprouty rtk signaling antagonist 4", "sprouty, drosophila, homolog of, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81848 ; - skos:exactMatch HGNC_symbol:SPRY4 ; + skos:exactMatch UMLS:C1423560, + HGNC:15533, + HGNC_symbol:SPRY4 ; biolink:category biolink:Gene . OMIM:607985 a owl:Class ; @@ -245657,7 +254707,6 @@ OMIM:607985 a owl:Class ; PMID:12058031, PMID:20147709, PMID:21956109 ; - oboInOwl:hasDbXref UMLS:C1424946 ; oboInOwl:hasExactSynonym "NAGPA", "mannose 6-phosphate-uncovering enzyme", "n-acetylglucosamine-1-phosphodiester alpha-n-acetylglucosaminidase", @@ -245665,7 +254714,9 @@ OMIM:607985 a owl:Class ; "phosphodiester glycoside" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51172 ; - skos:exactMatch HGNC_symbol:NAGPA ; + skos:exactMatch UMLS:C1424946, + HGNC:17378, + HGNC_symbol:NAGPA ; biolink:category biolink:Gene . OMIM:607986 a owl:Class ; @@ -245673,13 +254724,14 @@ OMIM:607986 a owl:Class ; IAO:0000142 PMID:11944983, PMID:12477722, PMID:19351828 ; - oboInOwl:hasDbXref UMLS:C1425869 ; oboInOwl:hasExactSynonym "S100A14", "bcmp84", "s100 calcium-binding protein a14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57402 ; - skos:exactMatch HGNC_symbol:S100A14 ; + skos:exactMatch UMLS:C1425869, + HGNC:18901, + HGNC_symbol:S100A14 ; biolink:category biolink:Gene . OMIM:607987 a owl:Class ; @@ -245687,7 +254739,6 @@ OMIM:607987 a owl:Class ; IAO:0000142 PMID:12411443, PMID:12446677, PMID:18653895 ; - oboInOwl:hasDbXref UMLS:C1539295 ; oboInOwl:hasExactSynonym "DNAJC10", "dnaj/hsp40 homolog, subfamily c, member 10", "endoplasmic reticulum resident protein erdj5", @@ -245695,35 +254746,39 @@ OMIM:607987 a owl:Class ; "j domain-containing protein disulfide isomerase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54431 ; - skos:exactMatch HGNC_symbol:DNAJC10 ; + skos:exactMatch UMLS:C1539295, + HGNC:24637, + HGNC_symbol:DNAJC10 ; biolink:category biolink:Gene . OMIM:607988 a owl:Class ; rdfs:label "SPOCK2" ; IAO:0000142 PMID:10386950, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1422067 ; oboInOwl:hasExactSynonym "SPOCK2", "kiaa0275", "sparc/osteonectin, cwcv, and kazal-like domains proteoglycan 2", "testican 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9806 ; - skos:exactMatch HGNC_symbol:SPOCK2 ; + skos:exactMatch UMLS:C1422067, + HGNC:13564, + HGNC_symbol:SPOCK2 ; biolink:category biolink:Gene . OMIM:607989 a owl:Class ; rdfs:label "SPOCK3" ; IAO:0000142 PMID:10386950, PMID:11751414 ; - oboInOwl:hasDbXref UMLS:C1422068 ; oboInOwl:hasExactSynonym "SPOCK3", "n-tes", "sparc/osteonectin, cwcv, and kazal-like domains proteoglycan 3", "testican 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50859 ; - skos:exactMatch HGNC_symbol:SPOCK3 ; + skos:exactMatch UMLS:C1422068, + HGNC:13565, + HGNC_symbol:SPOCK3 ; biolink:category biolink:Gene . OMIM:607990 a owl:Class ; @@ -245744,14 +254799,15 @@ OMIM:607990 a owl:Class ; PMID:29558369, PMID:29618490, PMID:30487604 ; - oboInOwl:hasDbXref UMLS:C1421348 ; oboInOwl:hasExactSynonym "UHRF1", "inverted ccaat box-binding protein, 90-kd", "nuclear phosphoprotein, 95-kd", "ubiquitin-like protein containing phd and ring finger domains 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29128 ; - skos:exactMatch HGNC_symbol:UHRF1 ; + skos:exactMatch UMLS:C1421348, + HGNC:12556, + HGNC_symbol:UHRF1 ; biolink:category biolink:Gene . OMIM:607991 a owl:Class ; @@ -245761,40 +254817,43 @@ OMIM:607991 a owl:Class ; PMID:14722618, PMID:18234895, PMID:8798769 ; - oboInOwl:hasDbXref UMLS:C1420231 ; oboInOwl:hasExactSynonym "SLC8A3", "sodium-calcium exchanger 3", "solute carrier family 8 (sodium-calcium exchanger), member a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6547 ; - skos:exactMatch HGNC_symbol:SLC8A3 ; + skos:exactMatch UMLS:C1420231, + HGNC:11070, + HGNC_symbol:SLC8A3 ; biolink:category biolink:Gene . OMIM:607992 a owl:Class ; rdfs:label "SUGP1" ; IAO:0000142 PMID:12594045, PMID:27206982 ; - oboInOwl:hasDbXref UMLS:C1425671 ; oboInOwl:hasExactSynonym "SUGP1", "splicing factor 4", "surp and g-patch domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57794 ; - skos:exactMatch HGNC_symbol:SUGP1 ; + skos:exactMatch UMLS:C1425671, + HGNC:18643, + HGNC_symbol:SUGP1 ; biolink:category biolink:Gene . OMIM:607993 a owl:Class ; rdfs:label "SUGP2" ; IAO:0000142 PMID:12594045, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1425670 ; oboInOwl:hasExactSynonym "SUGP2", "kiaa0365", "splicing factor, arginine/serine-rich, 14", "surp and g-patch domains-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10147 ; - skos:exactMatch HGNC_symbol:SUGP2 ; + skos:exactMatch UMLS:C1425670, + HGNC:18641, + HGNC_symbol:SUGP2 ; biolink:category biolink:Gene . OMIM:607994 a owl:Class ; @@ -245804,25 +254863,27 @@ OMIM:607994 a owl:Class ; PMID:15175755, PMID:9049243, PMID:9802570 ; - oboInOwl:hasDbXref UMLS:C1538124 ; oboInOwl:hasExactSynonym "5-prime,3-prime-exoribonuclease 1", "XRN1", "strand exchange protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54464 ; - skos:exactMatch HGNC_symbol:XRN1 ; + skos:exactMatch UMLS:C1538124, + HGNC:30654, + HGNC_symbol:XRN1 ; biolink:category biolink:Gene . OMIM:607995 a owl:Class ; rdfs:label "UNC93A" ; IAO:0000142 PMID:12381271 ; - oboInOwl:hasDbXref UMLS:C1421360 ; oboInOwl:hasExactSynonym "UNC93A", "unc93 homolog a", "unc93, c. elegans, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54346 ; - skos:exactMatch HGNC_symbol:UNC93A ; + skos:exactMatch UMLS:C1421360, + HGNC:12570, + HGNC_symbol:UNC93A ; biolink:category biolink:Gene . OMIM:607996 a owl:Class ; @@ -245830,9 +254891,6 @@ OMIM:607996 a owl:Class ; IAO:0000142 PMID:12118011, PMID:12401809, PMID:12719537 ; - oboInOwl:hasDbXref UMLS:C1826460, - UMLS:C1842743, - UMLS:C1842744 ; oboInOwl:hasExactSynonym "g protein-coupled receptor 7 ligand", "gpcr7 ligand", "gpcr7 ligand with c-terminal extension", @@ -245843,14 +254901,17 @@ OMIM:607996 a owl:Class ; "preproneuropeptide B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256933 ; - skos:exactMatch HGNC_symbol:NPB ; + skos:exactMatch UMLS:C1826460, + UMLS:C1842743, + UMLS:C1842744, + HGNC:30099, + HGNC_symbol:NPB ; biolink:category biolink:Gene . OMIM:607997 a owl:Class ; rdfs:label "NPW" ; IAO:0000142 PMID:12401809, PMID:12719537 ; - oboInOwl:hasDbXref UMLS:C1826469 ; oboInOwl:hasExactSynonym "NPW", "g protein-coupled receptor 8 ligand", "gpcr8 ligand", @@ -245861,7 +254922,9 @@ OMIM:607997 a owl:Class ; "preproneuropeptide w" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283869 ; - skos:exactMatch HGNC_symbol:NPW ; + skos:exactMatch UMLS:C1826469, + HGNC:30509, + HGNC_symbol:NPW ; biolink:category biolink:Gene . OMIM:607998 a owl:Class ; @@ -245889,14 +254952,15 @@ OMIM:607998 a owl:Class ; PMID:9653647 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:609270 ; - oboInOwl:hasDbXref UMLS:C1540042 ; oboInOwl:hasExactSynonym "TPP1", "cln2 gene", "tpp 1", "tripeptidyl peptidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1200 ; - skos:exactMatch HGNC_symbol:TPP1 ; + skos:exactMatch UMLS:C1540042, + HGNC:2073, + HGNC_symbol:TPP1 ; biolink:category biolink:Gene . OMIM:607999 a owl:Class ; @@ -245911,7 +254975,6 @@ OMIM:607999 a owl:Class ; PMID:29109511 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:617796 ; - oboInOwl:hasDbXref UMLS:C1426004 ; oboInOwl:hasExactSynonym "ASH1L", "ash1, drosophila, homolog of", "ash1-like", @@ -245920,7 +254983,9 @@ OMIM:607999 a owl:Class ; "lysine-specific methyltransferase 2h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55870 ; - skos:exactMatch HGNC_symbol:ASH1L ; + skos:exactMatch UMLS:C1426004, + HGNC:19088, + HGNC_symbol:ASH1L ; biolink:category biolink:Gene . OMIM:608000 a owl:Class ; @@ -245934,14 +254999,15 @@ OMIM:608000 a owl:Class ; PMID:29656860 ; RO:0002525 CHR:9606chr4q31.1 ; RO:0003303 OMIM:617787 ; - oboInOwl:hasDbXref UMLS:C1538040 ; oboInOwl:hasExactSynonym "NAA15", "n-alpha-acetyltransferase 15, nata auxiliary subunit", "nat1, s. cerevisiae, homolog of", "nmda receptor-regulated 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80155 ; - skos:exactMatch HGNC_symbol:NAA15 ; + skos:exactMatch UMLS:C1538040, + HGNC:30782, + HGNC_symbol:NAA15 ; biolink:category biolink:Gene . OMIM:608001 a owl:Class ; @@ -245965,12 +255031,13 @@ OMIM:608002 a owl:Class ; PMID:9329956 ; RO:0002525 CHR:9606chr3q22.1 ; RO:0003303 OMIM:208540 ; - oboInOwl:hasDbXref UMLS:C1417783 ; oboInOwl:hasExactSynonym "NPHP3", "nephrocystin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27031 ; - skos:exactMatch HGNC_symbol:NPHP3 ; + skos:exactMatch UMLS:C1417783, + HGNC:7907, + HGNC_symbol:NPHP3 ; biolink:category biolink:Gene . OMIM:608003 a owl:Class ; @@ -245978,13 +255045,14 @@ OMIM:608003 a owl:Class ; IAO:0000142 PMID:12529400, PMID:12702766, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1425945 ; oboInOwl:hasExactSynonym "HIPK1", "homeodomain-interacting protein kinase 1", "kiaa0630" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:204851 ; - skos:exactMatch HGNC_symbol:HIPK1 ; + skos:exactMatch UMLS:C1425945, + HGNC:19006, + HGNC_symbol:HIPK1 ; biolink:category biolink:Gene . OMIM:608004 a owl:Class ; @@ -246001,7 +255069,6 @@ OMIM:608004 a owl:Class ; PMID:29670287, PMID:31853059, PMID:31853061 ; - oboInOwl:hasDbXref UMLS:C1538057 ; oboInOwl:hasExactSynonym "NFKBIZ", "i-kappa-b-zeta", "il1-induced nuclear ankyrin repeat protein", @@ -246012,7 +255079,9 @@ OMIM:608004 a owl:Class ; "nuclear factor of kappa light chain gene enhancer 1n B cells inhibitor, zeta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64332 ; - skos:exactMatch HGNC_symbol:NFKBIZ ; + skos:exactMatch UMLS:C1538057, + HGNC:29805, + HGNC_symbol:NFKBIZ ; biolink:category biolink:Gene . OMIM:608005 a owl:Class ; @@ -246032,61 +255101,66 @@ OMIM:608005 a owl:Class ; PMID:24631270 ; RO:0002525 CHR:9606chr5q31.2 ; RO:0003303 OMIM:248800 ; - oboInOwl:hasDbXref UMLS:C0024814, - UMLS:C1822725 ; oboInOwl:hasExactSynonym "SIL1", "bip-associated protein", "sil1 nucleotide exchange factor", "sil1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64374 ; - skos:exactMatch HGNC_symbol:SIL1 ; + skos:exactMatch UMLS:C0024814, + UMLS:C1822725, + HGNC:24624, + HGNC_symbol:SIL1 ; biolink:category biolink:Gene . OMIM:608006 a owl:Class ; rdfs:label "LMOD2" ; IAO:0000142 PMID:11318603 ; - oboInOwl:hasDbXref UMLS:C1416887 ; oboInOwl:hasExactSynonym "LMOD2", "leiomodin 2", "leiomodin, cardiac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442721 ; - skos:exactMatch HGNC_symbol:LMOD2 ; + skos:exactMatch UMLS:C1416887, + HGNC:6648, + HGNC_symbol:LMOD2 ; biolink:category biolink:Gene . OMIM:608007 a owl:Class ; rdfs:label "PLEK2" ; IAO:0000142 PMID:10419454 ; - oboInOwl:hasDbXref UMLS:C1426105 ; oboInOwl:hasExactSynonym "PLEK2", "pleckstrin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26499 ; - skos:exactMatch HGNC_symbol:PLEK2 ; + skos:exactMatch UMLS:C1426105, + HGNC:19238, + HGNC_symbol:PLEK2 ; biolink:category biolink:Gene . OMIM:608008 a owl:Class ; rdfs:label "ANXA10" ; IAO:0000142 PMID:10458909 ; - oboInOwl:hasDbXref UMLS:C1412418 ; oboInOwl:hasExactSynonym "ANXA10", "annexin a10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11199 ; - skos:exactMatch HGNC_symbol:ANXA10 ; + skos:exactMatch UMLS:C1412418, + HGNC:534, + HGNC_symbol:ANXA10 ; biolink:category biolink:Gene . OMIM:608009 a owl:Class ; rdfs:label "AK5" ; IAO:0000142 PMID:10215863, PMID:19647735 ; - oboInOwl:hasDbXref UMLS:C1412309 ; oboInOwl:hasExactSynonym "AK5", "adenylate kinase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26289 ; - skos:exactMatch HGNC_symbol:AK5 ; + skos:exactMatch UMLS:C1412309, + HGNC:365, + HGNC_symbol:AK5 ; biolink:category biolink:Gene . OMIM:608010 a owl:Class ; @@ -246110,15 +255184,16 @@ OMIM:608010 a owl:Class ; PMID:28315682 ; RO:0002525 CHR:9606chr7p13 ; RO:0003303 OMIM:617966 ; - oboInOwl:hasDbXref UMLS:C1417777, - UMLS:C1842722, - UMLS:C4693795 ; oboInOwl:hasExactSynonym "NPC1L1", "npc1-like 1", "npc1-like intracellular cholesterol transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29881 ; - skos:exactMatch HGNC_symbol:NPC1L1 ; + skos:exactMatch UMLS:C1417777, + UMLS:C1842722, + UMLS:C4693795, + HGNC:7898, + HGNC_symbol:NPC1L1 ; biolink:category biolink:Gene . OMIM:608011 a owl:Class ; @@ -246126,26 +255201,28 @@ OMIM:608011 a owl:Class ; IAO:0000142 PMID:11085516, PMID:12464630, PMID:18426907 ; - oboInOwl:hasDbXref UMLS:C1539588 ; oboInOwl:hasExactSynonym "GNL3", "e2-induced gene 3", "guanine nucleotide-binding protein-like 3", "nucleostemin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26354 ; - skos:exactMatch HGNC_symbol:GNL3 ; + skos:exactMatch UMLS:C1539588, + HGNC:29931, + HGNC_symbol:GNL3 ; biolink:category biolink:Gene . OMIM:608012 a owl:Class ; rdfs:label "PDIA2" ; IAO:0000142 PMID:8561901 ; - oboInOwl:hasDbXref UMLS:C1538606 ; oboInOwl:hasExactSynonym "PDIA2", "protein disulfide isomerase, family a, member 2", "protein disulfide isomerase, pancreatic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64714 ; - skos:exactMatch HGNC_symbol:PDIA2 ; + skos:exactMatch UMLS:C1538606, + HGNC:14180, + HGNC_symbol:PDIA2 ; biolink:category biolink:Gene . OMIM:608013 a owl:Class ; @@ -246163,11 +255240,11 @@ OMIM:608013 a owl:Class ; PMID:5422102, PMID:8599361, PMID:8929950 ; - oboInOwl:hasDbXref UMLS:C1842704, - ORPHA:355, - ORPHA:85212 ; oboInOwl:hasExactSynonym "gaucher disease, collodion iia", "gaucher disease, perinatal lethal" ; + skos:exactMatch UMLS:C1842704, + ORPHA:355, + ORPHA:85212 ; biolink:category biolink:Disease . OMIM:608014 a owl:Class ; @@ -246184,9 +255261,6 @@ OMIM:608014 a owl:Class ; PMID:31273097 ; RO:0002525 CHR:9606chr12q24.23 ; RO:0003303 OMIM:158590 ; - oboInOwl:hasDbXref UMLS:C1428937, - UMLS:C1834692, - UMLS:C1837552 ; oboInOwl:hasExactSynonym "HSPB8", "e2-induced gene 1", "heat-shock 22-kd protein 8", @@ -246195,74 +255269,83 @@ OMIM:608014 a owl:Class ; "protein kinase h11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26353 ; - skos:exactMatch HGNC_symbol:HSPB8 ; + skos:exactMatch UMLS:C1428937, + UMLS:C1834692, + UMLS:C1837552, + HGNC:30171, + HGNC_symbol:HSPB8 ; biolink:category biolink:Gene . OMIM:608015 a owl:Class ; rdfs:label "TSKU" ; IAO:0000142 PMID:11085516, PMID:15363410 ; - oboInOwl:hasDbXref UMLS:C1823517 ; oboInOwl:hasExactSynonym "TSKU", "e2-induced gene 4", "tsukushi, chicken, homolog of", "tsukushin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25987 ; - skos:exactMatch HGNC_symbol:TSKU ; + skos:exactMatch UMLS:C1823517, + HGNC:28850, + HGNC_symbol:TSKU ; biolink:category biolink:Gene . OMIM:608016 a owl:Class ; rdfs:label "COA4" ; IAO:0000142 PMID:11085516 ; - oboInOwl:hasDbXref UMLS:C1824732 ; oboInOwl:hasExactSynonym "COA4", "coiled-coil-helix-coiled-coil-helix domain-containing protein 8", "cytochrome c oxidase assembly factor 4 homolog", "e2-induced gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51287 ; - skos:exactMatch HGNC_symbol:COA4 ; + skos:exactMatch UMLS:C1824732, + HGNC:24604, + HGNC_symbol:COA4 ; biolink:category biolink:Gene . OMIM:608017 a owl:Class ; rdfs:label "FAM162A" ; IAO:0000142 PMID:11085516, PMID:3040268 ; - oboInOwl:hasDbXref UMLS:C1824125 ; oboInOwl:hasExactSynonym "FAM162A", "chromosome 3 open reading frame 28", "e2-induced gene 5", "family with sequence similarity 162, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26355 ; - skos:exactMatch HGNC_symbol:FAM162A ; + skos:exactMatch UMLS:C1824125, + HGNC:17865, + HGNC_symbol:FAM162A ; biolink:category biolink:Gene . OMIM:608018 a owl:Class ; rdfs:label "PRSS27" ; IAO:0000142 PMID:12441343 ; - oboInOwl:hasDbXref UMLS:C1423515 ; oboInOwl:hasExactSynonym "PRSS27", "pancreasin", "protease, serine, 27", "serine protease 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83886 ; - skos:exactMatch HGNC_symbol:PRSS27 ; + skos:exactMatch UMLS:C1423515, + HGNC:15475, + HGNC_symbol:PRSS27 ; biolink:category biolink:Gene . OMIM:608019 a owl:Class ; rdfs:label "TNIP3" ; IAO:0000142 PMID:11345586 ; - oboInOwl:hasDbXref UMLS:C1426159 ; oboInOwl:hasExactSynonym "TNIP3", "flj21162", "listeria-induced gene", "tnfaip3-interacting protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79931 ; - skos:exactMatch HGNC_symbol:TNIP3 ; + skos:exactMatch UMLS:C1426159, + HGNC:19315, + HGNC_symbol:TNIP3 ; biolink:category biolink:Gene . OMIM:608020 a owl:Class ; @@ -246271,13 +255354,14 @@ OMIM:608020 a owl:Class ; PMID:11306805, PMID:17036007, PMID:7811391 ; - oboInOwl:hasDbXref UMLS:C1417875 ; oboInOwl:hasExactSynonym "NUCB2", "nefa", "nucleobindin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4925 ; - skos:exactMatch HGNC_symbol:NUCB2 ; + skos:exactMatch UMLS:C1417875, + HGNC:8044, + HGNC_symbol:NUCB2 ; biolink:category biolink:Gene . OMIM:608021 a owl:Class ; @@ -246285,34 +255369,35 @@ OMIM:608021 a owl:Class ; IAO:0000142 PMID:11274388, PMID:12709070, PMID:24019467 ; - oboInOwl:hasDbXref UMLS:C1538107 ; oboInOwl:hasExactSynonym "WFIKKN1", "gdf-associated serum protein 2", "wap, follistatin, immunoglobulin, kunitz, and ntr domains-containing protein 1", "wfikkn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117166 ; - skos:exactMatch HGNC_symbol:WFIKKN1 ; + skos:exactMatch UMLS:C1538107, + HGNC:30912, + HGNC_symbol:WFIKKN1 ; biolink:category biolink:Gene . OMIM:608023 a owl:Class ; rdfs:label "DDX56" ; IAO:0000142 PMID:10749921 ; - oboInOwl:hasDbXref UMLS:C1425370 ; oboInOwl:hasExactSynonym "DDX56", "dead-box helicase 56", "dead/h-box 56", "nucleolar helicase, 61-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54606 ; - skos:exactMatch HGNC_symbol:DDX56 ; + skos:exactMatch UMLS:C1425370, + HGNC:18193, + HGNC_symbol:DDX56 ; biolink:category biolink:Gene . OMIM:608024 a owl:Class ; rdfs:label "ECI2" ; IAO:0000142 PMID:10354522, PMID:10419495 ; - oboInOwl:hasDbXref UMLS:C1422782 ; oboInOwl:hasExactSynonym "ECI2", "dbi-related sequence 1", "diazepam binding inhibitor-related sequence 1", @@ -246320,7 +255405,9 @@ OMIM:608024 a owl:Class ; "peroxisomal d3,d2-enoyl-coa isomerase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10455 ; - skos:exactMatch HGNC_symbol:ECI2 ; + skos:exactMatch UMLS:C1422782, + HGNC:14601, + HGNC_symbol:ECI2 ; biolink:category biolink:Gene . OMIM:608025 a owl:Class ; @@ -246331,20 +255418,21 @@ OMIM:608025 a owl:Class ; PMID:9926938 ; RO:0002525 CHR:9606chr2p24.3 ; RO:0003303 OMIM:614800 ; - oboInOwl:hasDbXref UMLS:C1842690 ; oboInOwl:hasExactSynonym "NBAS", "neuroblastoma-amplified gene", "neuroblastoma-amplified sequence" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51594 ; - skos:exactMatch HGNC_symbol:NBAS ; + skos:exactMatch UMLS:C1842690, + HGNC:15625, + HGNC_symbol:NBAS ; biolink:category biolink:Gene . OMIM:608028 a owl:Class ; rdfs:label "thai symphalangism syndrome" ; IAO:0000142 PMID:12838559 ; - oboInOwl:hasDbXref UMLS:C1842679 ; - oboInOwl:hasExactSynonym "thai symphalangism syndrome" . + oboInOwl:hasExactSynonym "thai symphalangism syndrome" ; + skos:exactMatch UMLS:C1842679 . OMIM:608030 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia" ; @@ -246362,10 +255450,10 @@ OMIM:608030 a owl:Class ; PMID:20660363, PMID:20668259, PMID:21280085 ; - oboInOwl:hasDbXref UMLS:C1842675 ; oboInOwl:hasExactSynonym "ALS6", "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C1842675 ; biolink:category biolink:Disease . OMIM:608032 a owl:Class ; @@ -246392,27 +255480,29 @@ OMIM:608034 a owl:Class ; PMID:9887384 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:271900 ; - oboInOwl:hasDbXref UMLS:C1412591 ; oboInOwl:hasExactSynonym "ASPA", "aminoacylase 2", "aspartoacylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:443 ; - skos:exactMatch HGNC_symbol:ASPA ; + skos:exactMatch UMLS:C1412591, + HGNC:756, + HGNC_symbol:ASPA ; biolink:category biolink:Gene . OMIM:608037 a owl:Class ; rdfs:label "CHPF2" ; IAO:0000142 PMID:10718198, PMID:12145278 ; - oboInOwl:hasDbXref UMLS:C1842641 ; oboInOwl:hasExactSynonym "CHPF2", "chondroitin polymerizing factor 2", "chondroitin sulfate glucuronyltransferase", "kiaa1402" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54480 ; - skos:exactMatch HGNC_symbol:CHPF2 ; + skos:exactMatch UMLS:C1842641, + HGNC:29270, + HGNC_symbol:CHPF2 ; biolink:category biolink:Gene . OMIM:608038 a owl:Class ; @@ -246422,7 +255512,6 @@ OMIM:608038 a owl:Class ; PMID:12032833, PMID:15548136, PMID:18639460 ; - oboInOwl:hasDbXref UMLS:C1423829 ; oboInOwl:hasExactSynonym "PAK5", "kiaa1264", "p21 cdc42/rac1-activated kinase 7", @@ -246430,20 +255519,23 @@ OMIM:608038 a owl:Class ; "p21 protein-activated kinase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57144 ; - skos:exactMatch HGNC_symbol:PAK5 ; + skos:exactMatch UMLS:C1423829, + HGNC:15916, + HGNC_symbol:PAK5 ; biolink:category biolink:Gene . OMIM:608039 a owl:Class ; rdfs:label "SPATA9" ; IAO:0000142 PMID:12493713 ; - oboInOwl:hasDbXref UMLS:C1427839 ; oboInOwl:hasExactSynonym "SPATA9", "flj35906", "nyd-sp16", "spermatogenesis-associated protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83890 ; - skos:exactMatch HGNC_symbol:SPATA9 ; + skos:exactMatch UMLS:C1427839, + HGNC:22988, + HGNC_symbol:SPATA9 ; biolink:category biolink:Gene . OMIM:608040 a owl:Class ; @@ -246454,7 +255546,6 @@ OMIM:608040 a owl:Class ; PMID:27486776 ; RO:0002525 CHR:9606chr9p21.2 ; RO:0003303 OMIM:619585 ; - oboInOwl:hasDbXref UMLS:C1825569 ; oboInOwl:hasExactSynonym "IFT74", "capillary morphogenesis gene 1", "coiled-coil domain-containing protein 2", @@ -246462,7 +255553,9 @@ OMIM:608040 a owl:Class ; "intraflagellar transport 74, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80173 ; - skos:exactMatch HGNC_symbol:IFT74 ; + skos:exactMatch UMLS:C1825569, + HGNC:21424, + HGNC_symbol:IFT74 ; biolink:category biolink:Gene . OMIM:608041 a owl:Class ; @@ -246478,40 +255571,43 @@ OMIM:608041 a owl:Class ; PMID:22383261 ; RO:0002525 CHR:9606chr4q21.21 ; RO:0003303 OMIM:228600 ; - oboInOwl:hasDbXref UMLS:C1427727 ; oboInOwl:hasExactSynonym "ANTXR2", "anthrax toxin receptor 2", "capillary morphogenesis gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118429 ; - skos:exactMatch HGNC_symbol:ANTXR2 ; + skos:exactMatch UMLS:C1427727, + HGNC:21732, + HGNC_symbol:ANTXR2 ; biolink:category biolink:Gene . OMIM:608042 a owl:Class ; rdfs:label "SYTL1" ; IAO:0000142 PMID:12137562, PMID:12189202 ; - oboInOwl:hasDbXref UMLS:C1539906 ; oboInOwl:hasExactSynonym "SYTL1", "c2 domain-containing protein jfc1", "slp1", "synaptotagmin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84958 ; - skos:exactMatch HGNC_symbol:SYTL1 ; + skos:exactMatch UMLS:C1539906, + HGNC:15584, + HGNC_symbol:SYTL1 ; biolink:category biolink:Gene . OMIM:608043 a owl:Class ; rdfs:label "GALNT10" ; IAO:0000142 PMID:12417297, PMID:20977886 ; - oboInOwl:hasDbXref UMLS:C1426498 ; oboInOwl:hasExactSynonym "GALNT10", "galnac transferase 10", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55568 ; - skos:exactMatch HGNC_symbol:GALNT10 ; + skos:exactMatch UMLS:C1426498, + HGNC:19873, + HGNC_symbol:GALNT10 ; biolink:category biolink:Gene . OMIM:608044 a owl:Class ; @@ -246522,7 +255618,6 @@ OMIM:608044 a owl:Class ; PMID:15687339, PMID:16873376, PMID:21499304 ; - oboInOwl:hasDbXref UMLS:C1426025 ; oboInOwl:hasExactSynonym "SLC5A8", "apical iodide transporter", "smct1", @@ -246530,7 +255625,9 @@ OMIM:608044 a owl:Class ; "solute carrier family 5 (iodide transporter), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160728 ; - skos:exactMatch HGNC_symbol:SLC5A8 ; + skos:exactMatch UMLS:C1426025, + HGNC:19119, + HGNC_symbol:SLC5A8 ; biolink:category biolink:Gene . OMIM:608046 a owl:Class ; @@ -246543,7 +255640,6 @@ OMIM:608046 a owl:Class ; PMID:18711132, PMID:21245296, PMID:32193362 ; - oboInOwl:hasDbXref UMLS:C1539907 ; oboInOwl:hasExactSynonym "SYVN1", "hrd1, s. cerevisiae, homolog of", "kiaa1810", @@ -246551,7 +255647,9 @@ OMIM:608046 a owl:Class ; "synoviolin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84447 ; - skos:exactMatch HGNC_symbol:SYVN1 ; + skos:exactMatch UMLS:C1539907, + HGNC:20738, + HGNC_symbol:SYVN1 ; biolink:category biolink:Gene . OMIM:608047 a owl:Class ; @@ -246561,12 +255659,13 @@ OMIM:608047 a owl:Class ; PMID:23200864 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:244450 ; - oboInOwl:hasDbXref UMLS:C1422011 ; oboInOwl:hasExactSynonym "UBE3B", "ubiquitin-protein ligase e3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89910 ; - skos:exactMatch HGNC_symbol:UBE3B ; + skos:exactMatch UMLS:C1422011, + HGNC:13478, + HGNC_symbol:UBE3B ; biolink:category biolink:Gene . OMIM:608050 a owl:Class ; @@ -246574,14 +255673,15 @@ OMIM:608050 a owl:Class ; IAO:0000142 PMID:10644435, PMID:20015956, PMID:9288096 ; - oboInOwl:hasDbXref UMLS:C1420862 ; oboInOwl:hasExactSynonym "TOR1B", "dq1", "torsin 1b", "torsin B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27348 ; - skos:exactMatch HGNC_symbol:TOR1B ; + skos:exactMatch UMLS:C1420862, + HGNC:11995, + HGNC_symbol:TOR1B ; biolink:category biolink:Gene . OMIM:608051 a owl:Class ; @@ -246591,16 +255691,15 @@ OMIM:608051 a owl:Class ; PMID:18654668, PMID:20393116, PMID:20859302 ; - oboInOwl:hasDbXref UMLS:C0339512 ; oboInOwl:hasExactSynonym "MCDR2", "macular dystrophy, retinal, 2" ; + skos:exactMatch UMLS:C0339512 ; biolink:category biolink:Disease . OMIM:608052 a owl:Class ; rdfs:label "TOR2A" ; IAO:0000142 PMID:12910263, PMID:9288096 ; - oboInOwl:hasDbXref UMLS:C1420863 ; oboInOwl:hasExactSynonym "TOR2A", "preprosalusin", "salusin-alpha", @@ -246609,7 +255708,9 @@ OMIM:608052 a owl:Class ; "torsin-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27433 ; - skos:exactMatch HGNC_symbol:TOR2A ; + skos:exactMatch UMLS:C1420863, + HGNC:11996, + HGNC_symbol:TOR2A ; biolink:category biolink:Gene . OMIM:608053 a owl:Class ; @@ -246621,23 +255722,25 @@ OMIM:608053 a owl:Class ; PMID:8617498 ; RO:0002525 CHR:9606chr15q24.2-q24.3 ; RO:0003303 OMIM:231680 ; - oboInOwl:hasDbXref UMLS:C1414471 ; oboInOwl:hasExactSynonym "ETFA", "electron transfer flavoprotein, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2108 ; - skos:exactMatch HGNC_symbol:ETFA ; + skos:exactMatch UMLS:C1414471, + HGNC:3481, + HGNC_symbol:ETFA ; biolink:category biolink:Gene . OMIM:608054 a owl:Class ; rdfs:label "CYP2A7" ; IAO:0000142 PMID:7668294 ; - oboInOwl:hasDbXref UMLS:C1413869 ; oboInOwl:hasExactSynonym "CYP2A7", "cytochrome p450, subfamily iia, polypeptide 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1549 ; - skos:exactMatch HGNC_symbol:CYP2A7 ; + skos:exactMatch UMLS:C1413869, + HGNC:2611, + HGNC_symbol:CYP2A7 ; biolink:category biolink:Gene . OMIM:608055 a owl:Class ; @@ -246645,12 +255748,13 @@ OMIM:608055 a owl:Class ; IAO:0000142 PMID:11016631, PMID:12130698, PMID:7668294 ; - oboInOwl:hasDbXref UMLS:C1413867 ; oboInOwl:hasExactSynonym "CYP2A13", "cytochrome p450, subfamily iia, polypeptide 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1553 ; - skos:exactMatch HGNC_symbol:CYP2A13 ; + skos:exactMatch UMLS:C1413867, + HGNC:2608, + HGNC_symbol:CYP2A13 ; biolink:category biolink:Gene . OMIM:608056 a owl:Class ; @@ -246662,14 +255766,15 @@ OMIM:608057 a owl:Class ; IAO:0000142 PMID:11376952, PMID:11700027, PMID:12944971 ; - oboInOwl:hasDbXref UMLS:C1539298 ; oboInOwl:hasExactSynonym "DNASE2B", "deoxyribonuclease 2 beta", "dnase ii-beta", "dnase2-like acid dnase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58511 ; - skos:exactMatch HGNC_symbol:DNASE2B ; + skos:exactMatch UMLS:C1539298, + HGNC:28875, + HGNC_symbol:DNASE2B ; biolink:category biolink:Gene . OMIM:608058 a owl:Class ; @@ -246682,14 +255787,15 @@ OMIM:608058 a owl:Class ; PMID:12861077, PMID:8549854, PMID:9770521 ; - oboInOwl:hasDbXref UMLS:C1428751 ; oboInOwl:hasExactSynonym "G6PC2", "glucose-6-phosphatase, catalytic, 2", "islet-specific g6cp-related protein", "islet-specific glucose-6-phosphatase catalytic subunit-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57818 ; - skos:exactMatch HGNC_symbol:G6PC2 ; + skos:exactMatch UMLS:C1428751, + HGNC:28906, + HGNC_symbol:G6PC2 ; biolink:category biolink:Gene . OMIM:608059 a owl:Class ; @@ -246706,26 +255812,28 @@ OMIM:608059 a owl:Class ; PMID:32943519 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:613686 ; - oboInOwl:hasDbXref UMLS:C1423880, - UMLS:C4017128 ; oboInOwl:hasExactSynonym "HES7", "hairy/enhancer of split, drosophila, homolog of, 7", "hes family bhlh transcription factor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84667 ; - skos:exactMatch HGNC_symbol:HES7 ; + skos:exactMatch UMLS:C1423880, + UMLS:C4017128, + HGNC:15977, + HGNC_symbol:HES7 ; biolink:category biolink:Gene . OMIM:608060 a owl:Class ; rdfs:label "HES4" ; IAO:0000142 PMID:11260262 ; - oboInOwl:hasDbXref UMLS:C1539667 ; oboInOwl:hasExactSynonym "HES4", "hairy/enhancer of split, drosophila, homolog of, 4", "hes family bhlh transcription factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57801 ; - skos:exactMatch HGNC_symbol:HES4 ; + skos:exactMatch UMLS:C1539667, + HGNC:24149, + HGNC_symbol:HES4 ; biolink:category biolink:Gene . OMIM:608061 a owl:Class ; @@ -246735,38 +255843,39 @@ OMIM:608061 a owl:Class ; PMID:12743032, PMID:15644312, PMID:26404837 ; - oboInOwl:hasDbXref UMLS:C1425229 ; oboInOwl:hasExactSynonym "TOMM40", "perec1", "translocase of outer mitochondrial membrane 40", "translocase of outer mitochondrial membrane 40, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10452 ; - skos:exactMatch HGNC_symbol:TOMM40 ; + skos:exactMatch UMLS:C1425229, + HGNC:18001, + HGNC_symbol:TOMM40 ; biolink:category biolink:Gene . OMIM:608063 a owl:Class ; rdfs:label "bile and pancreatic ducts, complete absence of" ; IAO:0000142 PMID:12838397 ; - oboInOwl:hasDbXref UMLS:C1842614 ; - oboInOwl:hasExactSynonym "bile and pancreatic ducts, complete absence of" . + oboInOwl:hasExactSynonym "bile and pancreatic ducts, complete absence of" ; + skos:exactMatch UMLS:C1842614 . OMIM:608064 a owl:Class ; rdfs:label "KLHL5" ; IAO:0000142 PMID:11590829 ; - oboInOwl:hasDbXref UMLS:C1416668 ; oboInOwl:hasExactSynonym "KLHL5", "kelch-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51088 ; - skos:exactMatch HGNC_symbol:KLHL5 ; + skos:exactMatch UMLS:C1416668, + HGNC:6356, + HGNC_symbol:KLHL5 ; biolink:category biolink:Gene . OMIM:608065 a owl:Class ; rdfs:label "SLC38A4" ; IAO:0000142 PMID:11342143, PMID:11414754 ; - oboInOwl:hasDbXref UMLS:C1422835 ; oboInOwl:hasExactSynonym "SLC38A4", "amino acid transporter a3", "n-system amino acid transporter 3", @@ -246774,7 +255883,9 @@ OMIM:608065 a owl:Class ; "solute carrier family 38 (amino acid transporter), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55089 ; - skos:exactMatch HGNC_symbol:SLC38A4 ; + skos:exactMatch UMLS:C1422835, + HGNC:14679, + HGNC_symbol:SLC38A4 ; biolink:category biolink:Gene . OMIM:608066 a owl:Class ; @@ -246782,13 +255893,14 @@ OMIM:608066 a owl:Class ; IAO:0000142 PMID:12660241, PMID:19901029, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1427641 ; oboInOwl:hasExactSynonym "SAFB2", "kiaa0138", "scaffold attachment factor b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9667 ; - skos:exactMatch HGNC_symbol:SAFB2 ; + skos:exactMatch UMLS:C1427641, + HGNC:21605, + HGNC_symbol:SAFB2 ; biolink:category biolink:Gene . OMIM:608067 a owl:Class ; @@ -246803,13 +255915,14 @@ OMIM:608067 a owl:Class ; PMID:21625211, PMID:23884858, PMID:30322923 ; - oboInOwl:hasDbXref UMLS:C1538830 ; oboInOwl:hasExactSynonym "RFWD2", "constitutive photomorphogenesis protein 1, arabidopsis, homolog of", "ring finger and wd repeat domains-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64326 ; - skos:exactMatch HGNC_symbol:COP1 ; + skos:exactMatch UMLS:C1538830, + HGNC:17440, + HGNC_symbol:COP1 ; biolink:category biolink:Gene . OMIM:608069 a owl:Class ; @@ -246820,7 +255933,6 @@ OMIM:608069 a owl:Class ; PMID:16648858, PMID:18046415, PMID:7641805 ; - oboInOwl:hasDbXref UMLS:C1825064 ; oboInOwl:hasExactSynonym "ERRFI1", "erbb receptor feedback inhibitor 1", "gene 33, rat, homolog of", @@ -246828,7 +255940,9 @@ OMIM:608069 a owl:Class ; "receptor-associated late transducer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54206 ; - skos:exactMatch HGNC_symbol:ERRFI1 ; + skos:exactMatch UMLS:C1825064, + HGNC:18185, + HGNC_symbol:ERRFI1 ; biolink:category biolink:Gene . OMIM:608070 a owl:Class ; @@ -246839,7 +255953,6 @@ OMIM:608070 a owl:Class ; PMID:12153396, PMID:17420289, PMID:7584026 ; - oboInOwl:hasDbXref UMLS:C1422179 ; oboInOwl:hasExactSynonym "HERPUD1", "homocysteine- and endoplasmic reticulum stress-inducible protein, ubiquitin-like domain-containing, 1", "homocysteine-responsive endoplasmic reticulum resident protein", @@ -246847,7 +255960,9 @@ OMIM:608070 a owl:Class ; "methyl methanesulfonate-inducible fragment 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9709 ; - skos:exactMatch HGNC_symbol:HERPUD1 ; + skos:exactMatch UMLS:C1422179, + HGNC:13744, + HGNC_symbol:HERPUD1 ; biolink:category biolink:Gene . OMIM:608071 a owl:Class ; @@ -246861,7 +255976,6 @@ OMIM:608071 a owl:Class ; PMID:16235095, PMID:17984064, PMID:22319583 ; - oboInOwl:hasDbXref UMLS:C1539501 ; oboInOwl:hasExactSynonym "FBXW4", "dac, mouse, homolog of", "dactylaplasia, mouse, homolog of", @@ -246871,7 +255985,9 @@ OMIM:608071 a owl:Class ; "shfm3 gene, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6468 ; - skos:exactMatch HGNC_symbol:FBXW4 ; + skos:exactMatch UMLS:C1539501, + HGNC:10847, + HGNC_symbol:FBXW4 ; biolink:category biolink:Gene . OMIM:608072 a owl:Class ; @@ -246889,25 +256005,27 @@ OMIM:608072 a owl:Class ; PMID:19036738 ; RO:0002525 CHR:9606chr6p22.3 ; RO:0003303 OMIM:254780 ; - oboInOwl:hasDbXref UMLS:C1427623 ; oboInOwl:hasExactSynonym "NHLRC1", "epm2b gene", "malin", "nhl repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:378884 ; - skos:exactMatch HGNC_symbol:NHLRC1 ; + skos:exactMatch UMLS:C1427623, + HGNC:21576, + HGNC_symbol:NHLRC1 ; biolink:category biolink:Gene . OMIM:608073 a owl:Class ; rdfs:label "NPM2" ; IAO:0000142 PMID:12714744 ; - oboInOwl:hasDbXref UMLS:C1417805 ; oboInOwl:hasExactSynonym "NPM2", "nucleophosmin/nucleoplasmin family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10361 ; - skos:exactMatch HGNC_symbol:NPM2 ; + skos:exactMatch UMLS:C1417805, + HGNC:7930, + HGNC_symbol:NPM2 ; biolink:category biolink:Gene . OMIM:608074 a owl:Class ; @@ -246924,7 +256042,6 @@ OMIM:608074 a owl:Class ; PMID:19706535, PMID:23542590, PMID:9880530 ; - oboInOwl:hasDbXref UMLS:C1418407 ; oboInOwl:hasExactSynonym "PDCD6IP", "alg2-interacting protein 1", "alg2-interacting protein 10", @@ -246933,7 +256050,9 @@ OMIM:608074 a owl:Class ; "programmed cell death 6-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10015 ; - skos:exactMatch HGNC_symbol:PDCD6IP ; + skos:exactMatch UMLS:C1418407, + HGNC:8766, + HGNC_symbol:PDCD6IP ; biolink:category biolink:Gene . OMIM:608075 a owl:Class ; @@ -246945,32 +256064,33 @@ OMIM:608075 a owl:Class ; PMID:31463947 ; RO:0002525 CHR:9606chr12p12.3 ; RO:0003303 OMIM:617214 ; - oboInOwl:hasDbXref UMLS:C1426095, - UMLS:C4310666 ; oboInOwl:hasExactSynonym "PLCZ1", "phospholipase c, zeta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89869 ; - skos:exactMatch HGNC_symbol:PLCZ1 ; + skos:exactMatch UMLS:C1426095, + UMLS:C4310666, + HGNC:19218, + HGNC_symbol:PLCZ1 ; biolink:category biolink:Gene . OMIM:608076 a owl:Class ; rdfs:label "TNK1" ; IAO:0000142 PMID:8632913 ; - oboInOwl:hasDbXref UMLS:C1336653 ; oboInOwl:hasExactSynonym "TNK1", "cd38-negative kinase", "tyrosine kinase, nonreceptor, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8711 ; - skos:exactMatch HGNC_symbol:TNK1 ; + skos:exactMatch UMLS:C1336653, + HGNC:11940, + HGNC_symbol:TNK1 ; biolink:category biolink:Gene . OMIM:608077 a owl:Class ; rdfs:label "P2RXL1" ; IAO:0000142 PMID:8786426, PMID:9242461 ; - oboInOwl:hasDbXref UMLS:C1418216 ; oboInOwl:hasExactSynonym "P2RXL1", "p2rx-like 1", "p2x, skeletal muscle-expressed", @@ -246978,7 +256098,9 @@ OMIM:608077 a owl:Class ; "purinoreceptor p2x6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9127 ; - skos:exactMatch HGNC_symbol:P2RX6 ; + skos:exactMatch UMLS:C1418216, + HGNC:8538, + HGNC_symbol:P2RX6 ; biolink:category biolink:Gene . OMIM:608079 a owl:Class ; @@ -246986,7 +256108,6 @@ OMIM:608079 a owl:Class ; IAO:0000142 PMID:11401430, PMID:21559454, PMID:21593607 ; - oboInOwl:hasDbXref UMLS:C1422479 ; oboInOwl:hasExactSynonym "ELAC1", "deleted 1n ma29 cell line", "elac ribonuclease z 1", @@ -246995,44 +256116,49 @@ OMIM:608079 a owl:Class ; "rnase zs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55520 ; - skos:exactMatch HGNC_symbol:ELAC1 ; + skos:exactMatch UMLS:C1422479, + HGNC:14197, + HGNC_symbol:ELAC1 ; biolink:category biolink:Gene . OMIM:608080 a owl:Class ; rdfs:label "MRO" ; IAO:0000142 PMID:11401430 ; - oboInOwl:hasDbXref UMLS:C1540309 ; oboInOwl:hasExactSynonym "MRO", "chromosome 18 open reading frame 3", "gene beside the ma29 deletion", "maestro" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83876 ; - skos:exactMatch HGNC_symbol:MRO ; + skos:exactMatch UMLS:C1540309, + HGNC:24121, + HGNC_symbol:MRO ; biolink:category biolink:Gene . OMIM:608081 a owl:Class ; rdfs:label "SYT15" ; IAO:0000142 PMID:11543631, PMID:12788067 ; - oboInOwl:hasDbXref UMLS:C1424791 ; oboInOwl:hasExactSynonym "SYT15", "synaptotagmin 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83849 ; - skos:exactMatch HGNC_symbol:SYT15 ; + skos:exactMatch UMLS:C1424791, + HGNC:17167, + HGNC_symbol:SYT15 ; biolink:category biolink:Gene . OMIM:608082 a owl:Class ; rdfs:label "YPEL1" ; IAO:0000142 PMID:11473580, PMID:15556292 ; - oboInOwl:hasDbXref UMLS:C1421556 ; oboInOwl:hasExactSynonym "YPEL1", "yippee-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29799 ; - skos:exactMatch HGNC_symbol:YPEL1 ; + skos:exactMatch UMLS:C1421556, + HGNC:12845, + HGNC_symbol:YPEL1 ; biolink:category biolink:Gene . OMIM:608083 a owl:Class ; @@ -247078,7 +256204,11 @@ OMIM:608083 a owl:Class ; PMID:8490626 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:207750 ; - oboInOwl:hasDbXref UMLS:C1412477, + oboInOwl:hasExactSynonym "APOC2", + "apolipoprotein c-ii" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:344 ; + skos:exactMatch UMLS:C1412477, UMLS:C1720779, UMLS:C3889891, UMLS:C4017129, @@ -247091,37 +256221,36 @@ OMIM:608083 a owl:Class ; UMLS:C4017136, UMLS:C4017137, UMLS:C4017138, - UMLS:C4017139 ; - oboInOwl:hasExactSynonym "APOC2", - "apolipoprotein c-ii" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:344 ; - skos:exactMatch HGNC_symbol:APOC2 ; + UMLS:C4017139, + HGNC:609, + HGNC_symbol:APOC2 ; biolink:category biolink:Gene . OMIM:608084 a owl:Class ; rdfs:label "GIMAP1" ; IAO:0000142 PMID:11814688 ; - oboInOwl:hasDbXref UMLS:C1539562 ; oboInOwl:hasExactSynonym "GIMAP1", "gtpase, imap family, member 1", "immunity-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170575 ; - skos:exactMatch HGNC_symbol:GIMAP1 ; + skos:exactMatch UMLS:C1539562, + HGNC:23237, + HGNC_symbol:GIMAP1 ; biolink:category biolink:Gene . OMIM:608085 a owl:Class ; rdfs:label "GIMAP2" ; IAO:0000142 PMID:11814688, PMID:23454188 ; - oboInOwl:hasDbXref UMLS:C1539563 ; oboInOwl:hasExactSynonym "GIMAP2", "gtpase, imap family, member 2", "immunity-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26157 ; - skos:exactMatch HGNC_symbol:GIMAP2 ; + skos:exactMatch UMLS:C1539563, + HGNC:21789, + HGNC_symbol:GIMAP2 ; biolink:category biolink:Gene . OMIM:608086 a owl:Class ; @@ -247133,7 +256262,6 @@ OMIM:608086 a owl:Class ; PMID:24833725 ; RO:0002525 CHR:9606chr7q36.1 ; RO:0003303 OMIM:619463 ; - oboInOwl:hasDbXref UMLS:C1539566 ; oboInOwl:hasExactSynonym "GIMAP5", "gtpase, imap family, member 5", "ian4-like 1", @@ -247141,21 +256269,24 @@ OMIM:608086 a owl:Class ; "immunity-associated protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55340 ; - skos:exactMatch HGNC_symbol:GIMAP5 ; + skos:exactMatch UMLS:C1539566, + HGNC:18005, + HGNC_symbol:GIMAP5 ; biolink:category biolink:Gene . OMIM:608087 a owl:Class ; rdfs:label "GIMAP4" ; IAO:0000142 PMID:11814688, PMID:11964296 ; - oboInOwl:hasDbXref UMLS:C1539565 ; oboInOwl:hasExactSynonym "GIMAP4", "gtpase, imap family, member 4", "immunity-associated nucleotide 1", "immunity-associated protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55303 ; - skos:exactMatch HGNC_symbol:GIMAP4 ; + skos:exactMatch UMLS:C1539565, + HGNC:21872, + HGNC_symbol:GIMAP4 ; biolink:category biolink:Gene . OMIM:608090 a owl:Class ; @@ -247163,14 +256294,15 @@ OMIM:608090 a owl:Class ; IAO:0000142 PMID:10048485, PMID:11073985, PMID:12446771 ; - oboInOwl:hasDbXref UMLS:C1826258 ; oboInOwl:hasExactSynonym "MLXIP", "kiaa0867", "mlx-interacting protein", "mondo family, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22877 ; - skos:exactMatch HGNC_symbol:MLXIP ; + skos:exactMatch UMLS:C1826258, + HGNC:17055, + HGNC_symbol:MLXIP ; biolink:category biolink:Gene . OMIM:608091 a owl:Class ; @@ -247183,11 +256315,11 @@ OMIM:608091 a owl:Class ; PMID:20036350, PMID:20512146, PMID:9373798 ; - oboInOwl:hasDbXref UMLS:C1842577 ; oboInOwl:hasExactSynonym "JBTS2", "cerebellooculorenal syndrome 2", "joubert syndrome 2" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C1842577 ; biolink:category biolink:Disease . OMIM:608092 a owl:Class ; @@ -247201,14 +256333,15 @@ OMIM:608092 a owl:Class ; PMID:17415588 ; RO:0002525 CHR:9606chr4q32.3 ; RO:0003303 OMIM:606856 ; - oboInOwl:hasDbXref UMLS:C1826538 ; oboInOwl:hasExactSynonym "PALLD", "kiaa0992", "palladin, cytoskeletal-associated protein", "palladin, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23022 ; - skos:exactMatch HGNC_symbol:PALLD ; + skos:exactMatch UMLS:C1826538, + HGNC:17068, + HGNC_symbol:PALLD ; biolink:category biolink:Gene . OMIM:608093 a owl:Class ; @@ -247217,37 +256350,39 @@ OMIM:608093 a owl:Class ; PMID:22304930, PMID:22492991, PMID:23249953 ; - oboInOwl:hasDbXref UMLS:C2931004 ; oboInOwl:hasExactSynonym "CDG1J", "cdg ij", "congenital disorder of glycosylation, iia ij" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C2931004 ; biolink:category biolink:Disease . OMIM:608094 a owl:Class ; rdfs:label "SLC37A1" ; IAO:0000142 PMID:11112347, PMID:21949678 ; - oboInOwl:hasDbXref UMLS:C1420190 ; oboInOwl:hasExactSynonym "SLC37A1", "glycerol-3-phosphate permease", "solute carrier family 37 (sugar-phosphate transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54020 ; - skos:exactMatch HGNC_symbol:SLC37A1 ; + skos:exactMatch UMLS:C1420190, + HGNC:11024, + HGNC_symbol:SLC37A1 ; biolink:category biolink:Gene . OMIM:608095 a owl:Class ; rdfs:label "SCNM1" ; IAO:0000142 PMID:12920299, PMID:17656373 ; - oboInOwl:hasDbXref UMLS:C1427938 ; oboInOwl:hasExactSynonym "SCNM1", "mgc3180", "sodium channel modifier 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79005 ; - skos:exactMatch HGNC_symbol:SCNM1 ; + skos:exactMatch UMLS:C1427938, + HGNC:23136, + HGNC_symbol:SCNM1 ; biolink:category biolink:Gene . OMIM:608100 a owl:Class ; @@ -247260,7 +256395,6 @@ OMIM:608100 a owl:Class ; PMID:22077971 ; RO:0002525 CHR:9606chr2p13.3 ; RO:0003303 OMIM:605711 ; - oboInOwl:hasDbXref UMLS:C1826399 ; oboInOwl:hasExactSynonym "NFU1", "hira-interacting protein 5", "iron-sulfur cluster scaffold protein nfu1", @@ -247268,18 +256402,21 @@ OMIM:608100 a owl:Class ; "nfu1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27247 ; - skos:exactMatch HGNC_symbol:NFU1 ; + skos:exactMatch UMLS:C1826399, + HGNC:16287, + HGNC_symbol:NFU1 ; biolink:category biolink:Gene . OMIM:608101 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12920187 ; - oboInOwl:hasDbXref UMLS:C1825474 ; oboInOwl:hasExactSynonym "hils1", "spermatid-specific linker histone h1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:373861 ; - skos:exactMatch HGNC_symbol:H1-9P ; + skos:exactMatch UMLS:C1825474, + HGNC:30616, + HGNC_symbol:H1-9P ; biolink:category biolink:Gene . OMIM:608102 a owl:Class ; @@ -247298,14 +256435,15 @@ OMIM:608102 a owl:Class ; PMID:9662406 ; RO:0002525 CHR:9606chr13q22.3 ; RO:0003303 OMIM:256731 ; - oboInOwl:hasDbXref UMLS:C1413497, - UMLS:C1850442 ; oboInOwl:hasExactSynonym "CLN5", "cln5 gene", "cln5 intracellular trafficking protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1203 ; - skos:exactMatch HGNC_symbol:CLN5 ; + skos:exactMatch UMLS:C1413497, + UMLS:C1850442, + HGNC:2076, + HGNC_symbol:CLN5 ; biolink:category biolink:Gene . OMIM:608103 a owl:Class ; @@ -247317,17 +256455,18 @@ OMIM:608103 a owl:Class ; PMID:28375157 ; RO:0002525 CHR:9606chr11q14.1 ; RO:0003303 OMIM:617874 ; - oboInOwl:hasDbXref UMLS:C1427957, - UMLS:C2931002, - UMLS:C4694013, - UMLS:C4694014 ; oboInOwl:hasExactSynonym "ALG8", "alg8 alpha-1,3-glucosyltransferase", "alg8, s. cerevisiae, homolog of", "dolichyl-p-glucose:glc-1-man-9-glcnac-2-pp-dolichyl-alpha-3-glucosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79053 ; - skos:exactMatch HGNC_symbol:ALG8 ; + skos:exactMatch UMLS:C1427957, + UMLS:C2931002, + UMLS:C4694013, + UMLS:C4694014, + HGNC:23161, + HGNC_symbol:ALG8 ; biolink:category biolink:Gene . OMIM:608104 a owl:Class ; @@ -247335,21 +256474,21 @@ OMIM:608104 a owl:Class ; IAO:0000142 PMID:12480927, PMID:15235028, PMID:28108845 ; - oboInOwl:hasDbXref UMLS:C2931002 ; oboInOwl:hasExactSynonym "CDG1H", "cdg ih", "congenital disorder of glycosylation, iia ih" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C2931002 ; biolink:category biolink:Disease . OMIM:608105 a owl:Class ; rdfs:label "epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp" ; IAO:0000142 PMID:10072049, PMID:31257402 ; - oboInOwl:hasDbXref UMLS:C1842531 ; oboInOwl:hasExactSynonym "EPRPDC", "epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp", "re-ped-wc" ; + skos:exactMatch UMLS:C1842531 ; biolink:category biolink:Disease . OMIM:608107 a owl:Class ; @@ -247404,11 +256543,6 @@ OMIM:608107 a owl:Class ; PMID:9781020 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:608068 ; - oboInOwl:hasDbXref UMLS:C0031069, - UMLS:C0085077, - UMLS:C1417104, - UMLS:C1851347, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "MEFV", "familial mediterranean fever gene", "marenostrin", @@ -247416,7 +256550,13 @@ OMIM:608107 a owl:Class ; "pyrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4210 ; - skos:exactMatch HGNC_symbol:MEFV ; + skos:exactMatch UMLS:C0031069, + UMLS:C0085077, + UMLS:C1417104, + UMLS:C1851347, + UMLS:C4015968, + HGNC:6998, + HGNC_symbol:MEFV ; biolink:category biolink:Gene . OMIM:608108 a owl:Class ; @@ -247425,14 +256565,15 @@ OMIM:608108 a owl:Class ; PMID:11992732, PMID:9006920, PMID:9602175 ; - oboInOwl:hasDbXref UMLS:C1413354 ; oboInOwl:hasExactSynonym "CFDP1", "bucentaur", "craniofacial development protein 1", "craniofacial protein, 27-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10428 ; - skos:exactMatch HGNC_symbol:CFDP1 ; + skos:exactMatch UMLS:C1413354, + HGNC:1873, + HGNC_symbol:CFDP1 ; biolink:category biolink:Gene . OMIM:608109 a owl:Class ; @@ -247446,13 +256587,14 @@ OMIM:608109 a owl:Class ; PMID:7726239 ; RO:0002525 CHR:9606chr12q24.33 ; RO:0003303 OMIM:600462 ; - oboInOwl:hasDbXref UMLS:C1423539, - UMLS:C4551958 ; oboInOwl:hasExactSynonym "PUS1", "pseudouridine synthase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80324 ; - skos:exactMatch HGNC_symbol:PUS1 ; + skos:exactMatch UMLS:C1423539, + UMLS:C4551958, + HGNC:15508, + HGNC_symbol:PUS1 ; biolink:category biolink:Gene . OMIM:608110 a owl:Class ; @@ -247460,13 +256602,14 @@ OMIM:608110 a owl:Class ; IAO:0000142 PMID:11278661, PMID:15548136, PMID:18639460 ; - oboInOwl:hasDbXref UMLS:C1335189 ; oboInOwl:hasExactSynonym "PAK6", "p21 cdc42/rac1-activated kinase 6", "p21 protein-activated kinase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56924 ; - skos:exactMatch HGNC_symbol:PAK6 ; + skos:exactMatch UMLS:C1335189, + HGNC:16061, + HGNC_symbol:PAK6 ; biolink:category biolink:Gene . OMIM:608111 a owl:Class ; @@ -247483,14 +256626,15 @@ OMIM:608111 a owl:Class ; PMID:31666700 ; RO:0002525 CHR:9606chr2p16.1 ; RO:0003303 OMIM:614083 ; - oboInOwl:hasDbXref UMLS:C1427106 ; oboInOwl:hasExactSynonym "FANCL", "fancl gene", "fanconi anemia-associated polypeptide, 43-kd", "phd finger protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55120 ; - skos:exactMatch HGNC_symbol:FANCL ; + skos:exactMatch UMLS:C1427106, + HGNC:20748, + HGNC_symbol:FANCL ; biolink:category biolink:Gene . OMIM:608112 a owl:Class ; @@ -247506,8 +256650,6 @@ OMIM:608112 a owl:Class ; PMID:29846532 ; RO:0002525 CHR:9606chr3p22.1 ; RO:0003303 OMIM:618201 ; - oboInOwl:hasDbXref UMLS:C1823479, - UMLS:C4748688 ; oboInOwl:hasExactSynonym "TRAK1", "kiaa1042", "milton, drosophila, homolog of", @@ -247515,20 +256657,24 @@ OMIM:608112 a owl:Class ; "trafficking protein, kinesin-binding 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22906 ; - skos:exactMatch HGNC_symbol:TRAK1 ; + skos:exactMatch UMLS:C1823479, + UMLS:C4748688, + HGNC:29947, + HGNC_symbol:TRAK1 ; biolink:category biolink:Gene . OMIM:608113 a owl:Class ; rdfs:label "SGCZ" ; IAO:0000142 PMID:12189167 ; - oboInOwl:hasDbXref UMLS:C1422391 ; oboInOwl:hasExactSynonym "SGCZ", "sarcoglycan, zeta", "zeta-sarcoglycan", "zsg1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137868 ; - skos:exactMatch HGNC_symbol:SGCZ ; + skos:exactMatch UMLS:C1422391, + HGNC:14075, + HGNC_symbol:SGCZ ; biolink:category biolink:Gene . OMIM:608114 a owl:Class ; @@ -247537,13 +256683,14 @@ OMIM:608114 a owl:Class ; PMID:12565890, PMID:14625293, PMID:14690521 ; - oboInOwl:hasDbXref UMLS:C1424318 ; oboInOwl:hasExactSynonym "CENTA1", "centaurin, alpha-1", "p42-ip4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11033 ; - skos:exactMatch HGNC_symbol:ADAP1 ; + skos:exactMatch UMLS:C1424318, + HGNC:16486, + HGNC_symbol:ADAP1 ; biolink:category biolink:Gene . OMIM:608115 a owl:Class ; @@ -247555,17 +256702,16 @@ OMIM:608115 a owl:Class ; PMID:16679690, PMID:17721928, PMID:8894317 ; - oboInOwl:hasDbXref UMLS:C0085083 ; oboInOwl:hasExactSynonym "OHSS", "ovarian hyperstimulation syndrome", "ovarian hyperstimulation syndrome, familial gestational spontaneous" ; + skos:exactMatch UMLS:C0085083 ; biolink:category biolink:Disease . OMIM:608116 a owl:Class ; rdfs:label "HHATL" ; IAO:0000142 PMID:10574461, PMID:11374908 ; - oboInOwl:hasDbXref UMLS:C1825433 ; oboInOwl:hasExactSynonym "HHATL", "chromosome 3 open reading frame 3", "hedgehog acyltransferase-like protein", @@ -247575,7 +256721,9 @@ OMIM:608116 a owl:Class ; "membrane-bound o-acetyltransferase domain-containing 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57467 ; - skos:exactMatch HGNC_symbol:HHATL ; + skos:exactMatch UMLS:C1825433, + HGNC:13242, + HGNC_symbol:HHATL ; biolink:category biolink:Gene . OMIM:608117 a owl:Class ; @@ -247583,7 +256731,6 @@ OMIM:608117 a owl:Class ; IAO:0000142 PMID:11134006, PMID:11374908, PMID:12907457 ; - oboInOwl:hasDbXref UMLS:C1423592 ; oboInOwl:hasExactSynonym "PDE4DIP", "kiaa0454", "kiaa0477", @@ -247592,20 +256739,23 @@ OMIM:608117 a owl:Class ; "phosphodiesterase 4d-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9659 ; - skos:exactMatch HGNC_symbol:PDE4DIP ; + skos:exactMatch UMLS:C1423592, + HGNC:15580, + HGNC_symbol:PDE4DIP ; biolink:category biolink:Gene . OMIM:608119 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10718198, PMID:12925734 ; - oboInOwl:hasDbXref UMLS:C1426748 ; oboInOwl:hasExactSynonym "homeodomain leucine zipper-containing factor", "homez", "kiaa1443" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57594 ; - skos:exactMatch HGNC_symbol:HOMEZ ; + skos:exactMatch UMLS:C1426748, + HGNC:20164, + HGNC_symbol:HOMEZ ; biolink:category biolink:Gene . OMIM:608120 a owl:Class ; @@ -247614,12 +256764,13 @@ OMIM:608120 a owl:Class ; PMID:11722847, PMID:19798050, PMID:19829382 ; - oboInOwl:hasDbXref UMLS:C1422815 ; oboInOwl:hasExactSynonym "PARVA", "parvin, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55742 ; - skos:exactMatch HGNC_symbol:PARVA ; + skos:exactMatch UMLS:C1422815, + HGNC:14652, + HGNC_symbol:PARVA ; biolink:category biolink:Gene . OMIM:608121 a owl:Class ; @@ -247627,24 +256778,26 @@ OMIM:608121 a owl:Class ; IAO:0000142 PMID:11171322, PMID:11722847, PMID:12499396 ; - oboInOwl:hasDbXref UMLS:C1422816 ; oboInOwl:hasExactSynonym "PARVB", "parvin, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29780 ; - skos:exactMatch HGNC_symbol:PARVB ; + skos:exactMatch UMLS:C1422816, + HGNC:14653, + HGNC_symbol:PARVB ; biolink:category biolink:Gene . OMIM:608122 a owl:Class ; rdfs:label "PARVG" ; IAO:0000142 PMID:11171322, PMID:11722847 ; - oboInOwl:hasDbXref UMLS:C1422817 ; oboInOwl:hasExactSynonym "PARVG", "parvin, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64098 ; - skos:exactMatch HGNC_symbol:PARVG ; + skos:exactMatch UMLS:C1422817, + HGNC:14654, + HGNC_symbol:PARVG ; biolink:category biolink:Gene . OMIM:608123 a owl:Class ; @@ -247653,13 +256806,14 @@ OMIM:608123 a owl:Class ; PMID:16103133, PMID:9153233, PMID:9299485 ; - oboInOwl:hasDbXref UMLS:C1825832 ; oboInOwl:hasExactSynonym "ACOT8", "acyl-coa thioesterase 8", "peroxisomal acyl-coa thioesterase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10005 ; - skos:exactMatch HGNC_symbol:ACOT8 ; + skos:exactMatch UMLS:C1825832, + HGNC:15919, + HGNC_symbol:ACOT8 ; biolink:category biolink:Gene . OMIM:608124 a owl:Class ; @@ -247678,14 +256832,15 @@ OMIM:608124 a owl:Class ; PMID:9588955 ; RO:0002525 CHR:9606chr16p12.3 ; RO:0003303 OMIM:264800 ; - oboInOwl:hasDbXref UMLS:C1423546 ; oboInOwl:hasExactSynonym "XYLT1", "udp-d-xylose:proteoglycan core protein beta-d-xylosyltransferase 1", "xt1", "xylosyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64131 ; - skos:exactMatch HGNC_symbol:XYLT1 ; + skos:exactMatch UMLS:C1423546, + HGNC:15516, + HGNC_symbol:XYLT1 ; biolink:category biolink:Gene . OMIM:608125 a owl:Class ; @@ -247695,37 +256850,40 @@ OMIM:608125 a owl:Class ; PMID:26027496 ; RO:0002525 CHR:9606chr17q21.33 ; RO:0003303 OMIM:264800 ; - oboInOwl:hasDbXref UMLS:C1423547 ; oboInOwl:hasExactSynonym "XYLT2", "udp-d-xylose:proteoglycan core protein beta-d-xylosyltransferase 2", "xt2", "xylosyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64132 ; - skos:exactMatch HGNC_symbol:XYLT2 ; + skos:exactMatch UMLS:C1423547, + HGNC:15517, + HGNC_symbol:XYLT2 ; biolink:category biolink:Gene . OMIM:608126 a owl:Class ; rdfs:label "WDHD1" ; IAO:0000142 PMID:9175701 ; - oboInOwl:hasDbXref UMLS:C1427963 ; oboInOwl:hasExactSynonym "WDHD1", "acidic nucleoplasmic dna-binding protein 1, xenopus, homolog of", "wd repeat and hmg-box dna-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11169 ; - skos:exactMatch HGNC_symbol:WDHD1 ; + skos:exactMatch UMLS:C1427963, + HGNC:23170, + HGNC_symbol:WDHD1 ; biolink:category biolink:Gene . OMIM:608127 a owl:Class ; rdfs:label "PBX4" ; IAO:0000142 PMID:11335119 ; - oboInOwl:hasDbXref UMLS:C1421974 ; oboInOwl:hasExactSynonym "PBX4", "pre-b-cell leukemia transcription factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80714 ; - skos:exactMatch HGNC_symbol:PBX4 ; + skos:exactMatch UMLS:C1421974, + HGNC:13403, + HGNC_symbol:PBX4 ; biolink:category biolink:Gene . OMIM:608128 a owl:Class ; @@ -247736,7 +256894,6 @@ OMIM:608129 a owl:Class ; rdfs:label "UBAC1" ; IAO:0000142 PMID:10857748, PMID:15531880 ; - oboInOwl:hasDbXref UMLS:C1428944 ; oboInOwl:hasExactSynonym "UBAC1", "glioblastoma differentiation-related protein 1", "kip1 ubiquitination-promoting complex 2", @@ -247744,7 +256901,9 @@ OMIM:608129 a owl:Class ; "ubiquitin-associated domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10422 ; - skos:exactMatch HGNC_symbol:UBAC1 ; + skos:exactMatch UMLS:C1428944, + HGNC:30221, + HGNC_symbol:UBAC1 ; biolink:category biolink:Gene . OMIM:608130 a owl:Class ; @@ -247752,14 +256911,15 @@ OMIM:608130 a owl:Class ; IAO:0000142 PMID:12409306, PMID:22460906, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1826483 ; oboInOwl:hasExactSynonym "NUAK1", "ampk-related protein kinase 5", "kiaa0537", "nuak family, snf1-like kinase, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9891 ; - skos:exactMatch HGNC_symbol:NUAK1 ; + skos:exactMatch UMLS:C1826483, + HGNC:14311, + HGNC_symbol:NUAK1 ; biolink:category biolink:Gene . OMIM:608131 a owl:Class ; @@ -247768,13 +256928,14 @@ OMIM:608131 a owl:Class ; PMID:12409306 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:619452 ; - oboInOwl:hasDbXref UMLS:C1826484 ; oboInOwl:hasExactSynonym "NUAK2", "nuak family, snf1-like kinase, 2", "snf1/ampk-related protein kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81788 ; - skos:exactMatch HGNC_symbol:NUAK2 ; + skos:exactMatch UMLS:C1826484, + HGNC:29558, + HGNC_symbol:NUAK2 ; biolink:category biolink:Gene . OMIM:608132 a owl:Class ; @@ -247791,13 +256952,14 @@ OMIM:608132 a owl:Class ; PMID:26195043 ; RO:0002525 CHR:9606chr14q31.3 ; RO:0003303 OMIM:615985 ; - oboInOwl:hasDbXref UMLS:C1426673 ; oboInOwl:hasExactSynonym "TTC8", "bbs8 gene", "tetratricopeptide repeat domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123016 ; - skos:exactMatch HGNC_symbol:TTC8 ; + skos:exactMatch UMLS:C1426673, + HGNC:20087, + HGNC_symbol:TTC8 ; biolink:category biolink:Gene . OMIM:608134 a owl:Class ; @@ -247805,13 +256967,14 @@ OMIM:608134 a owl:Class ; IAO:0000142 PMID:9039502, PMID:9615234, PMID:9813098 ; - oboInOwl:hasDbXref UMLS:C1418262 ; oboInOwl:hasExactSynonym "PALM", "kiaa0270", "paralemmin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5064 ; - skos:exactMatch HGNC_symbol:PALM ; + skos:exactMatch UMLS:C1418262, + HGNC:8594, + HGNC_symbol:PALM ; biolink:category biolink:Gene . OMIM:608135 a owl:Class ; @@ -247824,15 +256987,16 @@ OMIM:608135 a owl:Class ; PMID:18304494 ; RO:0002525 CHR:9606chr9q22.31 ; RO:0003303 OMIM:607850 ; - oboInOwl:hasDbXref UMLS:C1423015, - UMLS:C2675551, - UMLS:C2675609 ; oboInOwl:hasExactSynonym "ASPN", "asporin", "periodontal ligament-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54829 ; - skos:exactMatch HGNC_symbol:ASPN ; + skos:exactMatch UMLS:C1423015, + UMLS:C2675551, + UMLS:C2675609, + HGNC:14872, + HGNC_symbol:ASPN ; biolink:category biolink:Gene . OMIM:608136 a owl:Class ; @@ -247844,13 +257008,14 @@ OMIM:608136 a owl:Class ; PMID:9678704 ; RO:0002525 CHR:9606chr8p23.3 ; RO:0003303 OMIM:608236 ; - oboInOwl:hasDbXref UMLS:C1422408 ; oboInOwl:hasExactSynonym "ARHGEF10", "kiaa0294", "rho guanine nucleotide exchange factor 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9639 ; - skos:exactMatch HGNC_symbol:ARHGEF10 ; + skos:exactMatch UMLS:C1422408, + HGNC:14103, + HGNC_symbol:ARHGEF10 ; biolink:category biolink:Gene . OMIM:608137 a owl:Class ; @@ -247861,40 +257026,43 @@ OMIM:608137 a owl:Class ; PMID:21700882 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:614838 ; - oboInOwl:hasDbXref UMLS:C1428897, - UMLS:C4017142, - UMLS:C4017143 ; oboInOwl:hasExactSynonym "NSMF", "nasal embryonic lhrh factor", "nasal embryonic luteinizing hormone-releasing hormone factor", "nmda receptor synaptonuclear signaling and neuronal migration factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26012 ; - skos:exactMatch HGNC_symbol:NSMF ; + skos:exactMatch UMLS:C1428897, + UMLS:C4017142, + UMLS:C4017143, + HGNC:29843, + HGNC_symbol:NSMF ; biolink:category biolink:Gene . OMIM:608138 a owl:Class ; rdfs:label "PDCD7" ; IAO:0000142 PMID:10037816 ; - oboInOwl:hasDbXref UMLS:C1418408 ; oboInOwl:hasExactSynonym "PDCD7", "programmed cell death 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10081 ; - skos:exactMatch HGNC_symbol:PDCD7 ; + skos:exactMatch UMLS:C1418408, + HGNC:8767, + HGNC_symbol:PDCD7 ; biolink:category biolink:Gene . OMIM:608139 a owl:Class ; rdfs:label "CENPV" ; IAO:0000142 PMID:12196509, PMID:19930468 ; - oboInOwl:hasDbXref UMLS:C1538722 ; oboInOwl:hasExactSynonym "CENPV", "centromere protein 5", "nuclear protein p30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201161 ; - skos:exactMatch HGNC_symbol:CENPV ; + skos:exactMatch UMLS:C1538722, + HGNC:29920, + HGNC_symbol:CENPV ; biolink:category biolink:Gene . OMIM:608140 a owl:Class ; @@ -247902,14 +257070,15 @@ OMIM:608140 a owl:Class ; IAO:0000142 PMID:12196509, PMID:15703211, PMID:16600873 ; - oboInOwl:hasDbXref UMLS:C1538502 ; oboInOwl:hasExactSynonym "NUP35", "mitotic phosphoprotein 44", "nucleoporin, 35-kd", "nup53, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129401 ; - skos:exactMatch HGNC_symbol:NUP35 ; + skos:exactMatch UMLS:C1538502, + HGNC:29797, + HGNC_symbol:NUP35 ; biolink:category biolink:Gene . OMIM:608141 a owl:Class ; @@ -247917,13 +257086,14 @@ OMIM:608141 a owl:Class ; IAO:0000142 PMID:12196509, PMID:15146057, PMID:17363900 ; - oboInOwl:hasDbXref UMLS:C1427394 ; oboInOwl:hasExactSynonym "NUP43", "nucleoporin, 43-kd", "p42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348995 ; - skos:exactMatch HGNC_symbol:NUP43 ; + skos:exactMatch UMLS:C1427394, + HGNC:21182, + HGNC_symbol:NUP43 ; biolink:category biolink:Gene . OMIM:608142 a owl:Class ; @@ -247932,40 +257102,43 @@ OMIM:608142 a owl:Class ; PMID:20668094 ; RO:0002525 CHR:9606chr22q12.1 ; RO:0003303 OMIM:619523 ; - oboInOwl:hasDbXref UMLS:C1825526 ; oboInOwl:hasExactSynonym "HSCB", "hsc20, e. coli, homolog of", "hscb mitochondrial iron-sulfur cluster cochaperone", "jac1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150274 ; - skos:exactMatch HGNC_symbol:HSCB ; + skos:exactMatch UMLS:C1825526, + HGNC:28913, + HGNC_symbol:HSCB ; biolink:category biolink:Gene . OMIM:608143 a owl:Class ; rdfs:label "AGPAT6" ; IAO:0000142 PMID:12938015 ; - oboInOwl:hasDbXref UMLS:C1826612 ; oboInOwl:hasExactSynonym "1-acylglycerol-3-phosphate o-acyltransferase 6", "AGPAT6", "lpaat-zeta", "lysophosphatidic acid acyltransferase-zeta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137964 ; - skos:exactMatch HGNC_symbol:GPAT4 ; + skos:exactMatch UMLS:C1826612, + HGNC:20880, + HGNC_symbol:GPAT4 ; biolink:category biolink:Gene . OMIM:608144 a owl:Class ; rdfs:label "SPDEF" ; IAO:0000142 PMID:10625666, PMID:17347682 ; - oboInOwl:hasDbXref UMLS:C1424853 ; oboInOwl:hasExactSynonym "SPDEF", "prostate epithelium-specific ets transcription factor", "sam pointed domain-containing ets transcription factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25803 ; - skos:exactMatch HGNC_symbol:SPDEF ; + skos:exactMatch UMLS:C1424853, + HGNC:17257, + HGNC_symbol:SPDEF ; biolink:category biolink:Gene . OMIM:608145 a owl:Class ; @@ -247979,13 +257152,14 @@ OMIM:608145 a owl:Class ; PMID:7854534 ; RO:0002525 CHR:9606chr15q11.2 ; RO:0003303 OMIM:600363 ; - oboInOwl:hasDbXref UMLS:C1424705 ; oboInOwl:hasExactSynonym "NIPA1", "nipa magnesium transporter 1", "nonimprinted gene 1n prader-willi syndrome/angelman syndrome chromosome region 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123606 ; - skos:exactMatch HGNC_symbol:NIPA1 ; + skos:exactMatch UMLS:C1424705, + HGNC:17043, + HGNC_symbol:NIPA1 ; biolink:category biolink:Gene . OMIM:608146 a owl:Class ; @@ -247994,13 +257168,14 @@ OMIM:608146 a owl:Class ; PMID:22367439, PMID:24408008, PMID:24500577 ; - oboInOwl:hasDbXref UMLS:C1538062 ; oboInOwl:hasExactSynonym "NIPA2", "nipa magnesium transporter 2", "nonimprinted gene 1n prader-willi syndrome/angelman syndrome chromosome region 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81614 ; - skos:exactMatch HGNC_symbol:NIPA2 ; + skos:exactMatch UMLS:C1538062, + HGNC:17044, + HGNC_symbol:NIPA2 ; biolink:category biolink:Gene . OMIM:608147 a owl:Class ; @@ -248008,7 +257183,6 @@ OMIM:608147 a owl:Class ; IAO:0000142 PMID:11572484, PMID:11694571, PMID:14508708 ; - oboInOwl:hasDbXref UMLS:C1425638 ; oboInOwl:hasExactSynonym "TUBGCP5", "gamma-tubulin complex component 5", "kiaa1899", @@ -248016,7 +257190,9 @@ OMIM:608147 a owl:Class ; "tubulin-gamma complex-associated protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114791 ; - skos:exactMatch HGNC_symbol:TUBGCP5 ; + skos:exactMatch UMLS:C1425638, + HGNC:18600, + HGNC_symbol:TUBGCP5 ; biolink:category biolink:Gene . OMIM:608148 a owl:Class ; @@ -248039,13 +257215,14 @@ OMIM:608148 a owl:Class ; PMID:28151491 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:612313 ; - oboInOwl:hasDbXref UMLS:C1427665 ; oboInOwl:hasExactSynonym "SATB2", "kiaa1034", "special at-rich sequence-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23314 ; - skos:exactMatch HGNC_symbol:SATB2 ; + skos:exactMatch UMLS:C1427665, + HGNC:21637, + HGNC_symbol:SATB2 ; biolink:category biolink:Gene . OMIM:608149 a owl:Class ; @@ -248060,9 +257237,9 @@ OMIM:608149 a owl:Class ; PMID:32592473, PMID:9129745 ; RO:0002525 CHR:9606chr14q32 ; - oboInOwl:hasDbXref UMLS:C1842466 ; oboInOwl:hasExactSynonym "kagami-ogata syndrome", "uniparental disomy, paternal, chromosome 14" ; + skos:exactMatch UMLS:C1842466 ; biolink:category biolink:Disease . OMIM:608150 a owl:Class ; @@ -248070,12 +257247,13 @@ OMIM:608150 a owl:Class ; IAO:0000142 PMID:12087473, PMID:12853457, PMID:26022416 ; - oboInOwl:hasDbXref UMLS:C1426197 ; oboInOwl:hasExactSynonym "PPHLN1", "periphilin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51535 ; - skos:exactMatch HGNC_symbol:PPHLN1 ; + skos:exactMatch UMLS:C1426197, + HGNC:19369, + HGNC_symbol:PPHLN1 ; biolink:category biolink:Gene . OMIM:608151 a owl:Class ; @@ -248087,13 +257265,14 @@ OMIM:608151 a owl:Class ; PMID:23683095 ; RO:0002525 CHR:9606chr4p14 ; RO:0003303 OMIM:616307 ; - oboInOwl:hasDbXref UMLS:C1425459 ; oboInOwl:hasExactSynonym "WDR19", "ift144", "wd repeat-containing protein 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57728 ; - skos:exactMatch HGNC_symbol:WDR19 ; + skos:exactMatch UMLS:C1425459, + HGNC:18340, + HGNC_symbol:WDR19 ; biolink:category biolink:Gene . OMIM:608152 a owl:Class ; @@ -248101,14 +257280,15 @@ OMIM:608152 a owl:Class ; IAO:0000142 PMID:11866447, PMID:12050152, PMID:17566096 ; - oboInOwl:hasDbXref UMLS:C1425104 ; oboInOwl:hasExactSynonym "PTGES2", "gate-binding factor 1", "pges2", "prostaglandin e synthase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80142 ; - skos:exactMatch HGNC_symbol:PTGES2 ; + skos:exactMatch UMLS:C1425104, + HGNC:17822, + HGNC_symbol:PTGES2 ; biolink:category biolink:Gene . OMIM:608153 a owl:Class ; @@ -248119,21 +257299,22 @@ OMIM:608153 a owl:Class ; PMID:12495628, PMID:16885985, PMID:9237662 ; - oboInOwl:hasDbXref UMLS:C1423014 ; oboInOwl:hasExactSynonym "PPP1R14A", "pkc-potentiated inhibitor of pp1, 17-kd", "protein kinase c-potentiated inhibitor of protein phosphatase 1, 17-kd", "protein phosphatase 1, regulatory subunit 14a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94274 ; - skos:exactMatch HGNC_symbol:PPP1R14A ; + skos:exactMatch UMLS:C1423014, + HGNC:14871, + HGNC_symbol:PPP1R14A ; biolink:category biolink:Gene . OMIM:608154 a owl:Class ; rdfs:label "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones" ; IAO:0000142 PMID:12923870 ; - oboInOwl:hasDbXref UMLS:C1842465 ; oboInOwl:hasExactSynonym "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones" ; + skos:exactMatch UMLS:C1842465 ; biolink:category biolink:Disease . OMIM:608155 a owl:Class ; @@ -248143,13 +257324,14 @@ OMIM:608155 a owl:Class ; PMID:12928494, PMID:15841212, PMID:9314539 ; - oboInOwl:hasDbXref UMLS:C1428989 ; oboInOwl:hasExactSynonym "SYNPO", "kiaa1029", "synaptopodin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11346 ; - skos:exactMatch HGNC_symbol:SYNPO ; + skos:exactMatch UMLS:C1428989, + HGNC:30672, + HGNC_symbol:SYNPO ; biolink:category biolink:Gene . OMIM:608156 a owl:Class ; @@ -248162,29 +257344,30 @@ OMIM:608156 a owl:Class ; PMID:20074678, PMID:2929657 ; RO:0002525 CHR:9606chr8q22.1 ; - oboInOwl:hasDbXref UMLS:C1842464 ; oboInOwl:hasExactSynonym "NMLFS", "chromosome 8q22.1 deletion syndrome", "nablus mask-like facial syndrome" ; + skos:exactMatch UMLS:C1842464 ; biolink:category biolink:Disease . OMIM:608157 a owl:Class ; rdfs:label "SLC25A2" ; IAO:0000142 PMID:12948741 ; - oboInOwl:hasDbXref UMLS:C1427779 ; oboInOwl:hasExactSynonym "SLC25A2", "ornithine transporter, mitochondrial, 2", "solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83884 ; - skos:exactMatch HGNC_symbol:SLC25A2 ; + skos:exactMatch UMLS:C1427779, + HGNC:22921, + HGNC_symbol:SLC25A2 ; biolink:category biolink:Gene . OMIM:608158 a owl:Class ; rdfs:label "coq-responsive oxphos deficiency" ; IAO:0000142 PMID:12948744 ; - oboInOwl:hasDbXref UMLS:C1842463 ; oboInOwl:hasExactSynonym "coq-responsive oxphos deficiency" ; + skos:exactMatch UMLS:C1842463 ; biolink:category biolink:Disease . OMIM:608159 a owl:Class ; @@ -248193,14 +257376,15 @@ OMIM:608159 a owl:Class ; PMID:10600542, PMID:11004480, PMID:9826525 ; - oboInOwl:hasDbXref UMLS:C1418971 ; oboInOwl:hasExactSynonym "PRSS21", "eosinophil serine protease 1", "protease, serine, 21", "testisin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10942 ; - skos:exactMatch HGNC_symbol:PRSS21 ; + skos:exactMatch UMLS:C1418971, + HGNC:9485, + HGNC_symbol:PRSS21 ; biolink:category biolink:Gene . OMIM:608160 a owl:Class ; @@ -248285,16 +257469,6 @@ OMIM:608160 a owl:Class ; PMID:9724758 ; RO:0002525 CHR:9606chr17q24.3 ; RO:0003303 OMIM:114290 ; - oboInOwl:hasDbXref UMLS:C1420331, - UMLS:C1842462, - UMLS:C1861922, - UMLS:C1861923, - UMLS:C2749215, - UMLS:C3549544, - UMLS:C4225331, - UMLS:C4723824, - UMLS:C4747386, - UMLS:C4747387 ; oboInOwl:hasExactSynonym "SOX9", "regulatory element, enhancer, 13", "sry-box 9", @@ -248305,7 +257479,18 @@ OMIM:608160 a owl:Class ; "xysr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6662 ; - skos:exactMatch HGNC_symbol:SOX9 ; + skos:exactMatch UMLS:C1420331, + UMLS:C1842462, + UMLS:C1861922, + UMLS:C1861923, + UMLS:C2749215, + UMLS:C3549544, + UMLS:C4225331, + UMLS:C4723824, + UMLS:C4747386, + UMLS:C4747387, + HGNC:11204, + HGNC_symbol:SOX9 ; biolink:category biolink:Gene . OMIM:608161 a owl:Class ; @@ -248322,13 +257507,13 @@ OMIM:608161 a owl:Class ; PMID:8352318, PMID:8485576, PMID:9338584 ; - oboInOwl:hasDbXref UMLS:C1842914 ; oboInOwl:hasExactSynonym "VMD3", "foveomacular dystrophy, adult-onset", "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization", "macular dystrophy, vitelliform, 3", "vitelliform macular dystrophy, adult-onset" ; rdfs:subClassOf OMIMPS:153840 ; + skos:exactMatch UMLS:C1842914 ; biolink:category biolink:Disease . OMIM:608162 a owl:Class ; @@ -248338,7 +257523,6 @@ OMIM:608162 a owl:Class ; PMID:12920180, PMID:16606666, PMID:16798883 ; - oboInOwl:hasDbXref UMLS:C1538072 ; oboInOwl:hasExactSynonym "VTCN1", "b7 homolog 4", "b7 superfamily, member 1", @@ -248346,7 +257530,9 @@ OMIM:608162 a owl:Class ; "v-set domain-containing t-cell activation inhibitor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79679 ; - skos:exactMatch HGNC_symbol:VTCN1 ; + skos:exactMatch UMLS:C1538072, + HGNC:28873, + HGNC_symbol:VTCN1 ; biolink:category biolink:Gene . OMIM:608163 a owl:Class ; @@ -248357,15 +257543,16 @@ OMIM:608163 a owl:Class ; PMID:32103185 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:619072 ; - oboInOwl:hasDbXref UMLS:C1427993, - UMLS:C5436732 ; oboInOwl:hasExactSynonym "EXOC7", "exo70, s. cerevisiae, homolog of", "exocyst complex component 7", "kiaa1067" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23265 ; - skos:exactMatch HGNC_symbol:EXOC7 ; + skos:exactMatch UMLS:C1427993, + UMLS:C5436732, + HGNC:23214, + HGNC_symbol:EXOC7 ; biolink:category biolink:Gene . OMIM:608164 a owl:Class ; @@ -248373,13 +257560,14 @@ OMIM:608164 a owl:Class ; IAO:0000142 PMID:12383276, PMID:8670833, PMID:9079713 ; - oboInOwl:hasDbXref UMLS:C1425832 ; oboInOwl:hasExactSynonym "KCNV1", "kv8.1", "potassium channel, voltage-gated, subfamily v, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27012 ; - skos:exactMatch HGNC_symbol:KCNV1 ; + skos:exactMatch UMLS:C1425832, + HGNC:18861, + HGNC_symbol:KCNV1 ; biolink:category biolink:Gene . OMIM:608165 a owl:Class ; @@ -248388,14 +257576,15 @@ OMIM:608165 a owl:Class ; PMID:10574771, PMID:11729193, PMID:15744306 ; - oboInOwl:hasDbXref UMLS:C1425676 ; oboInOwl:hasExactSynonym "GULP1", "ced6, c. elegans, homolog of", "gulp", "ptb domain-containing engulfment adaptor protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51454 ; - skos:exactMatch HGNC_symbol:GULP1 ; + skos:exactMatch UMLS:C1425676, + HGNC:18649, + HGNC_symbol:GULP1 ; biolink:category biolink:Gene . OMIM:608166 a owl:Class ; @@ -248409,14 +257598,15 @@ OMIM:608166 a owl:Class ; PMID:9515811 ; RO:0002525 CHR:9606chr7q21.11 ; RO:0003303 OMIM:214800 ; - oboInOwl:hasDbXref UMLS:C1335810 ; oboInOwl:hasExactSynonym "SEMA3E", "kiaa0331", "semaphorin 3e", "semaphorin h, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9723 ; - skos:exactMatch HGNC_symbol:SEMA3E ; + skos:exactMatch UMLS:C1335810, + HGNC:10727, + HGNC_symbol:SEMA3E ; biolink:category biolink:Gene . OMIM:608167 a owl:Class ; @@ -248430,23 +257620,23 @@ OMIM:608167 a owl:Class ; PMID:24120652 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:615005 ; - oboInOwl:hasDbXref UMLS:C1425836, - UMLS:C3554195, - UMLS:C3554306 ; oboInOwl:hasExactSynonym "KCNT1", "kiaa1422", "potassium channel, subfamily t, member 1", "slack" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57582 ; - skos:exactMatch HGNC_symbol:KCNT1 ; + skos:exactMatch UMLS:C1425836, + UMLS:C3554195, + UMLS:C3554306, + HGNC:18865, + HGNC_symbol:KCNT1 ; biolink:category biolink:Gene . OMIM:608168 a owl:Class ; rdfs:label "KCNH6" ; IAO:0000142 PMID:12634931, PMID:14515244 ; - oboInOwl:hasDbXref UMLS:C1425833 ; oboInOwl:hasExactSynonym "KCNH6", "eag-related gene 2", "ether-a-go-go-related gene 2", @@ -248454,7 +257644,9 @@ OMIM:608168 a owl:Class ; "potassium channel, voltage-gated, subfamily h, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81033 ; - skos:exactMatch HGNC_symbol:KCNH6 ; + skos:exactMatch UMLS:C1425833, + HGNC:18862, + HGNC_symbol:KCNH6 ; biolink:category biolink:Gene . OMIM:608169 a owl:Class ; @@ -248462,7 +257654,6 @@ OMIM:608169 a owl:Class ; IAO:0000142 PMID:12634931, PMID:14515244, PMID:24986916 ; - oboInOwl:hasDbXref UMLS:C1425834 ; oboInOwl:hasExactSynonym "KCNH7", "eag-related gene 3", "ether-a-go-go-related gene 3", @@ -248470,7 +257661,9 @@ OMIM:608169 a owl:Class ; "potassium channel, voltage-gated, subfamily h, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90134 ; - skos:exactMatch HGNC_symbol:KCNH7 ; + skos:exactMatch UMLS:C1425834, + HGNC:18863, + HGNC_symbol:KCNH7 ; biolink:category biolink:Gene . OMIM:608170 a owl:Class ; @@ -248480,15 +257673,16 @@ OMIM:608170 a owl:Class ; PMID:26712909 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:616871 ; - oboInOwl:hasDbXref UMLS:C1425698, - UMLS:C4225520 ; oboInOwl:hasExactSynonym "DDX41", "abstrakt, drosophila, homolog of", "dead-box helicase 41", "dead/h-box 41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51428 ; - skos:exactMatch HGNC_symbol:DDX41 ; + skos:exactMatch UMLS:C1425698, + UMLS:C4225520, + HGNC:18674, + HGNC_symbol:DDX41 ; biolink:category biolink:Gene . OMIM:608171 a owl:Class ; @@ -248500,12 +257694,13 @@ OMIM:608171 a owl:Class ; PMID:26560832 ; RO:0002525 CHR:9606chr12p13.33 ; RO:0003303 OMIM:610478 ; - oboInOwl:hasDbXref UMLS:C1426771 ; oboInOwl:hasExactSynonym "CACNA2D4", "calcium channel, voltage-dependent, alpha-2/delta subunit 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93589 ; - skos:exactMatch HGNC_symbol:CACNA2D4 ; + skos:exactMatch UMLS:C1426771, + HGNC:20202, + HGNC_symbol:CACNA2D4 ; biolink:category biolink:Gene . OMIM:608172 a owl:Class ; @@ -248519,7 +257714,6 @@ OMIM:608172 a owl:Class ; PMID:29100083 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:613861 ; - oboInOwl:hasDbXref UMLS:C1427027 ; oboInOwl:hasExactSynonym "DHDDS", "cis-isoprenyltransferase", "dedol-pp synthase", @@ -248527,7 +257721,9 @@ OMIM:608172 a owl:Class ; "hds" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79947 ; - skos:exactMatch HGNC_symbol:DHDDS ; + skos:exactMatch UMLS:C1427027, + HGNC:20603, + HGNC_symbol:DHDDS ; biolink:category biolink:Gene . OMIM:608177 a owl:Class ; @@ -248563,28 +257759,30 @@ OMIM:608177 a owl:Class ; PMID:9620772 ; RO:0002525 CHR:9606chr8q24.11 ; RO:0003303 OMIM:133700 ; - oboInOwl:hasDbXref UMLS:C0008479, - UMLS:C0015306, - UMLS:C0694878, - UMLS:C4017146 ; oboInOwl:hasExactSynonym "EXT1", "exostosin 1", "exostosin glycosyltransferase 1", "ext" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2131 ; - skos:exactMatch HGNC_symbol:EXT1 ; + skos:exactMatch UMLS:C0008479, + UMLS:C0015306, + UMLS:C0694878, + UMLS:C4017146, + HGNC:3512, + HGNC_symbol:EXT1 ; biolink:category biolink:Gene . OMIM:608178 a owl:Class ; rdfs:label "LUZP2" ; IAO:0000142 PMID:12856284 ; - oboInOwl:hasDbXref UMLS:C1427988 ; oboInOwl:hasExactSynonym "LUZP2", "leucine zipper protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338645 ; - skos:exactMatch HGNC_symbol:LUZP2 ; + skos:exactMatch UMLS:C1427988, + HGNC:23206, + HGNC_symbol:LUZP2 ; biolink:category biolink:Gene . OMIM:608179 a owl:Class ; @@ -248596,14 +257794,15 @@ OMIM:608179 a owl:Class ; PMID:8845847 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:601238 ; - oboInOwl:hasDbXref UMLS:C1412612 ; oboInOwl:hasExactSynonym "ATCAY", "bniph", "caytaxin", "kiaa1872" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85300 ; - skos:exactMatch HGNC_symbol:ATCAY ; + skos:exactMatch UMLS:C1412612, + HGNC:779, + HGNC_symbol:ATCAY ; biolink:category biolink:Gene . OMIM:608181 a owl:Class ; @@ -248615,27 +257814,29 @@ OMIM:608181 a owl:Class ; PMID:6024251 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:248900 ; - oboInOwl:hasDbXref UMLS:C1539838 ; oboInOwl:hasExactSynonym "ACP33", "acidic cluster protein, 33-kd", "maspardin", "spg21 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51324 ; - skos:exactMatch HGNC_symbol:SPG21 ; + skos:exactMatch UMLS:C1539838, + HGNC:20373, + HGNC_symbol:SPG21 ; biolink:category biolink:Gene . OMIM:608182 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:11805342, PMID:11847232 ; - oboInOwl:hasDbXref UMLS:C1428931 ; oboInOwl:hasExactSynonym "calsenilin-like protein", "kcnip4", "potassium channel-interacting protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80333 ; - skos:exactMatch HGNC_symbol:KCNIP4 ; + skos:exactMatch UMLS:C1428931, + HGNC:30083, + HGNC_symbol:KCNIP4 ; biolink:category biolink:Gene . OMIM:608183 a owl:Class ; @@ -248649,8 +257850,6 @@ OMIM:608183 a owl:Class ; PMID:9823490 ; RO:0002525 CHR:9606chr15q26.3 ; RO:0003303 OMIM:605282 ; - oboInOwl:hasDbXref UMLS:C1424814, - UMLS:C1854466 ; oboInOwl:hasExactSynonym "CHSY1", "carbohydrate synthase 1", "chondroitin sulfate synthase 1", @@ -248658,44 +257857,49 @@ OMIM:608183 a owl:Class ; "kiaa0990" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22856 ; - skos:exactMatch HGNC_symbol:CHSY1 ; + skos:exactMatch UMLS:C1424814, + UMLS:C1854466, + HGNC:17198, + HGNC_symbol:CHSY1 ; biolink:category biolink:Gene . OMIM:608184 a owl:Class ; rdfs:label "immunodeficiency with hyper-igm, iia 4" ; IAO:0000142 PMID:12840068 ; - oboInOwl:hasDbXref UMLS:C1842413 ; oboInOwl:hasExactSynonym "HIGM4", "hyper-igm syndrome 4", "immunodeficiency with hyper-igm, iia 4" ; - rdfs:subClassOf OMIMPS:308230 . + rdfs:subClassOf OMIMPS:308230 ; + skos:exactMatch UMLS:C1842413 . OMIM:608185 a owl:Class ; rdfs:label "EXOC4" ; IAO:0000142 PMID:11214970, PMID:8982167, PMID:9630218 ; - oboInOwl:hasDbXref UMLS:C1825077 ; oboInOwl:hasExactSynonym "EXOC4", "exocyst complex component 4", "kiaa1699", "sec8, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60412 ; - skos:exactMatch HGNC_symbol:EXOC4 ; + skos:exactMatch UMLS:C1825077, + HGNC:30389, + HGNC_symbol:EXOC4 ; biolink:category biolink:Gene . OMIM:608186 a owl:Class ; rdfs:label "EXOC3" ; IAO:0000142 PMID:8982167, PMID:9630218 ; - oboInOwl:hasDbXref UMLS:C1825075 ; oboInOwl:hasExactSynonym "EXOC3", "exocyst complex component 3", "sec6, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11336 ; - skos:exactMatch HGNC_symbol:EXOC3 ; + skos:exactMatch UMLS:C1825075, + HGNC:30378, + HGNC_symbol:EXOC3 ; biolink:category biolink:Gene . OMIM:608187 a owl:Class ; @@ -248707,64 +257911,69 @@ OMIM:608187 a owl:Class ; PMID:25873734 ; RO:0002525 CHR:9606chr20p12.3 ; RO:0003303 OMIM:612885 ; - oboInOwl:hasDbXref UMLS:C1424025 ; oboInOwl:hasExactSynonym "MCM8", "minichromosome maintenance complex component 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84515 ; - skos:exactMatch HGNC_symbol:MCM8 ; + skos:exactMatch UMLS:C1424025, + HGNC:16147, + HGNC_symbol:MCM8 ; biolink:category biolink:Gene . OMIM:608188 a owl:Class ; rdfs:label "CRLS1" ; IAO:0000142 PMID:12771218, PMID:19542079 ; - oboInOwl:hasDbXref UMLS:C1824795 ; oboInOwl:hasExactSynonym "CRLS1", "cardiolipin synthase 1", "chromosome 20 open reading frame 155", "gcd10, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54675 ; - skos:exactMatch HGNC_symbol:CRLS1 ; + skos:exactMatch UMLS:C1824795, + HGNC:16148, + HGNC_symbol:CRLS1 ; biolink:category biolink:Gene . OMIM:608190 a owl:Class ; rdfs:label "NAT8B" ; IAO:0000142 PMID:11397015, PMID:20392701 ; - oboInOwl:hasDbXref UMLS:C1826351 ; oboInOwl:hasExactSynonym "NAT8B", "camello, xenopus, homolog of, 2", "n-acetyltransferase 8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51471 ; - skos:exactMatch HGNC_symbol:NAT8B ; + skos:exactMatch UMLS:C1826351, + HGNC:30235, + HGNC_symbol:NAT8B ; biolink:category biolink:Gene . OMIM:608191 a owl:Class ; rdfs:label "RBAK" ; IAO:0000142 PMID:10702291 ; - oboInOwl:hasDbXref UMLS:C1826772 ; oboInOwl:hasExactSynonym "RBAK", "rb-associated krab repressor", "rb-associated krab zinc finger" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57786 ; - skos:exactMatch HGNC_symbol:RBAK ; + skos:exactMatch UMLS:C1826772, + HGNC:17680, + HGNC_symbol:RBAK ; biolink:category biolink:Gene . OMIM:608192 a owl:Class ; rdfs:label "SCYL3" ; IAO:0000142 PMID:12651155 ; - oboInOwl:hasDbXref UMLS:C1539736 ; oboInOwl:hasExactSynonym "SCYL3", "protein associated with the c-terminal domain of ezrin", "scy1, s. cerevisiae, homolog of, 3", "scy1-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57147 ; - skos:exactMatch HGNC_symbol:SCYL3 ; + skos:exactMatch UMLS:C1539736, + HGNC:19285, + HGNC_symbol:SCYL3 ; biolink:category biolink:Gene . OMIM:608193 a owl:Class ; @@ -248772,45 +257981,48 @@ OMIM:608193 a owl:Class ; IAO:0000142 PMID:10207075, PMID:15935783, PMID:16672979 ; - oboInOwl:hasDbXref UMLS:C1424613 ; oboInOwl:hasExactSynonym "REC8", "rec8 meiotic recombination protein", "rec8, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9985 ; - skos:exactMatch HGNC_symbol:REC8 ; + skos:exactMatch UMLS:C1424613, + HGNC:16879, + HGNC_symbol:REC8 ; biolink:category biolink:Gene . OMIM:608194 a owl:Class ; rdfs:label "cone-rod dystrophy 13" ; IAO:0000142 PMID:12920076 ; - oboInOwl:hasDbXref UMLS:C2750720 ; oboInOwl:hasExactSynonym "CORD13", "cone-rod dystrophy 13" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C2750720 ; biolink:category biolink:Disease . OMIM:608195 a owl:Class ; rdfs:label "LRRC1" ; IAO:0000142 PMID:11440998 ; - oboInOwl:hasDbXref UMLS:C1422560 ; oboInOwl:hasExactSynonym "LRRC1", "lap and no pdz protein", "leucine-rich repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55227 ; - skos:exactMatch HGNC_symbol:LRRC1 ; + skos:exactMatch UMLS:C1422560, + HGNC:14307, + HGNC_symbol:LRRC1 ; biolink:category biolink:Gene . OMIM:608196 a owl:Class ; rdfs:label "WRNIP1" ; - oboInOwl:hasDbXref UMLS:C1427182 ; oboInOwl:hasExactSynonym "WRNIP1", "werner helicase-interacting protein 1", "whip" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56897 ; - skos:exactMatch HGNC_symbol:WRNIP1 ; + skos:exactMatch UMLS:C1427182, + HGNC:20876, + HGNC_symbol:WRNIP1 ; biolink:category biolink:Gene . OMIM:608197 a owl:Class ; @@ -248818,14 +258030,15 @@ OMIM:608197 a owl:Class ; IAO:0000142 PMID:11461926, PMID:16362825, PMID:21602801 ; - oboInOwl:hasDbXref UMLS:C1428915 ; oboInOwl:hasExactSynonym "PGLYRP3", "peptidoglycan recognition protein 3", "peptidoglycan recognition protein, intermediate, alpha", "pgrpi-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114771 ; - skos:exactMatch HGNC_symbol:PGLYRP3 ; + skos:exactMatch UMLS:C1428915, + HGNC:30014, + HGNC_symbol:PGLYRP3 ; biolink:category biolink:Gene . OMIM:608198 a owl:Class ; @@ -248833,39 +258046,42 @@ OMIM:608198 a owl:Class ; IAO:0000142 PMID:11461926, PMID:16362825, PMID:21602801 ; - oboInOwl:hasDbXref UMLS:C1428916 ; oboInOwl:hasExactSynonym "PGLYRP4", "peptidoglycan recognition protein 4", "peptidoglycan recognition protein, intermediate, beta", "pgrpi-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57115 ; - skos:exactMatch HGNC_symbol:PGLYRP4 ; + skos:exactMatch UMLS:C1428916, + HGNC:30015, + HGNC_symbol:PGLYRP4 ; biolink:category biolink:Gene . OMIM:608199 a owl:Class ; rdfs:label "PGLYRP2" ; IAO:0000142 PMID:11461926, PMID:15340057 ; - oboInOwl:hasDbXref UMLS:C1428914 ; oboInOwl:hasExactSynonym "PGLYRP2", "peptidoglycan recognition protein 2", "peptidoglycan recognition protein, long" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114770 ; - skos:exactMatch HGNC_symbol:PGLYRP2 ; + skos:exactMatch UMLS:C1428914, + HGNC:30013, + HGNC_symbol:PGLYRP2 ; biolink:category biolink:Gene . OMIM:608200 a owl:Class ; rdfs:label "CDK5RAP1" ; IAO:0000142 PMID:10721722, PMID:11882646 ; - oboInOwl:hasDbXref UMLS:C1423801 ; oboInOwl:hasExactSynonym "CDK5RAP1", "cdk5 regulatory subunit-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51654 ; - skos:exactMatch HGNC_symbol:CDK5RAP1 ; + skos:exactMatch UMLS:C1423801, + HGNC:15880, + HGNC_symbol:CDK5RAP1 ; biolink:category biolink:Gene . OMIM:608201 a owl:Class ; @@ -248886,14 +258102,15 @@ OMIM:608201 a owl:Class ; PMID:27761245 ; RO:0002525 CHR:9606chr9q33.2 ; RO:0003303 OMIM:604804 ; - oboInOwl:hasDbXref UMLS:C1425696 ; oboInOwl:hasExactSynonym "CDK5RAP2", "cdk5 regulatory subunit-associated protein 2", "centrosomal protein, 215-kd", "kiaa1633" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55755 ; - skos:exactMatch HGNC_symbol:CDK5RAP2 ; + skos:exactMatch UMLS:C1425696, + HGNC:18672, + HGNC_symbol:CDK5RAP2 ; biolink:category biolink:Gene . OMIM:608202 a owl:Class ; @@ -248903,14 +258120,15 @@ OMIM:608202 a owl:Class ; PMID:20164180, PMID:20228063, PMID:30635284 ; - oboInOwl:hasDbXref UMLS:C1425697 ; oboInOwl:hasExactSynonym "CDK5RAP3", "c53", "cdk5 regulatory subunit-associated protein 3", "lxxll/leucine zipper-containing arf-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80279 ; - skos:exactMatch HGNC_symbol:CDK5RAP3 ; + skos:exactMatch UMLS:C1425697, + HGNC:18673, + HGNC_symbol:CDK5RAP3 ; biolink:category biolink:Gene . OMIM:608203 a owl:Class ; @@ -248919,12 +258137,12 @@ OMIM:608203 a owl:Class ; PMID:10961859, PMID:21167572, PMID:32542921 ; - oboInOwl:hasDbXref UMLS:C1842398, - ORPHA:183707 ; oboInOwl:hasExactSynonym "IMD73A", "immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis", "neutrophil immunodeficiency syndrome" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1842398, + ORPHA:183707 ; biolink:category biolink:Disease . OMIM:608204 a owl:Class ; @@ -248938,14 +258156,15 @@ OMIM:608204 a owl:Class ; PMID:31546247 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:610551 ; - oboInOwl:hasDbXref UMLS:C1422014, - UMLS:C2750180 ; oboInOwl:hasExactSynonym "UNC93B1", "unc93 homolog b1, tlr signaling regulator", "unc93, c. elegans, homolog of, b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81622 ; - skos:exactMatch HGNC_symbol:UNC93B1 ; + skos:exactMatch UMLS:C1422014, + UMLS:C2750180, + HGNC:13481, + HGNC_symbol:UNC93B1 ; biolink:category biolink:Gene . OMIM:608205 a owl:Class ; @@ -248954,7 +258173,6 @@ OMIM:608205 a owl:Class ; PMID:27817865 ; RO:0002525 CHR:9606chr1p35.3 ; RO:0003303 OMIM:617282 ; - oboInOwl:hasDbXref UMLS:C1825958 ; oboInOwl:hasExactSynonym "2-enoyl thioester reductase", "MECR", "mitochondrial trans-2-enoyl-coa reductase", @@ -248962,7 +258180,9 @@ OMIM:608205 a owl:Class ; "trans-2-enoyl-coa reductase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51102 ; - skos:exactMatch HGNC_symbol:MECR ; + skos:exactMatch UMLS:C1825958, + HGNC:19691, + HGNC_symbol:MECR ; biolink:category biolink:Gene . OMIM:608206 a owl:Class ; @@ -248981,15 +258201,16 @@ OMIM:608206 a owl:Class ; PMID:24833716 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:613353 ; - oboInOwl:hasDbXref UMLS:C1539765, - UMLS:C1866636, - UMLS:C3150596 ; oboInOwl:hasExactSynonym "SH3TC2", "kiaa1985", "sh3 domain and tetratricopeptide repeat domain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79628 ; - skos:exactMatch HGNC_symbol:SH3TC2 ; + skos:exactMatch UMLS:C1539765, + UMLS:C1866636, + UMLS:C3150596, + HGNC:29427, + HGNC_symbol:SH3TC2 ; biolink:category biolink:Gene . OMIM:608208 a owl:Class ; @@ -248997,14 +258218,15 @@ OMIM:608208 a owl:Class ; IAO:0000142 PMID:10718198, PMID:14586460, PMID:14722266 ; - oboInOwl:hasDbXref UMLS:C1537659 ; oboInOwl:hasExactSynonym "MARCHF4", "kiaa1399", "march 4", "membrane-associated ring-ch finger protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57574 ; - skos:exactMatch HGNC_symbol:MARCHF4 ; + skos:exactMatch UMLS:C1537659, + HGNC:29269, + HGNC_symbol:MARCHF4 ; biolink:category biolink:Gene . OMIM:608209 a owl:Class ; @@ -249012,14 +258234,15 @@ OMIM:608209 a owl:Class ; IAO:0000142 PMID:10819331, PMID:12662155, PMID:14566338 ; - oboInOwl:hasDbXref UMLS:C1427153 ; oboInOwl:hasExactSynonym "DPP10", "dipeptidyl peptidase 10", "dipeptidyl peptidase iv-related protein 3", "kiaa1492" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57628 ; - skos:exactMatch HGNC_symbol:DPP10 ; + skos:exactMatch UMLS:C1427153, + HGNC:20823, + HGNC_symbol:DPP10 ; biolink:category biolink:Gene . OMIM:608210 a owl:Class ; @@ -249051,28 +258274,30 @@ OMIM:608210 a owl:Class ; PMID:9756849 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:616682 ; - oboInOwl:hasDbXref UMLS:C0694879, - UMLS:C1851413, - UMLS:C4225248, - UMLS:C5193209 ; oboInOwl:hasExactSynonym "EXT2", "exostosin 2", "exostosin glycosyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2132 ; - skos:exactMatch HGNC_symbol:EXT2 ; + skos:exactMatch UMLS:C0694879, + UMLS:C1851413, + UMLS:C4225248, + UMLS:C5193209, + HGNC:3513, + HGNC_symbol:EXT2 ; biolink:category biolink:Gene . OMIM:608211 a owl:Class ; rdfs:label "KAAG1" ; IAO:0000142 PMID:10601354 ; - oboInOwl:hasDbXref UMLS:C1427257 ; oboInOwl:hasExactSynonym "KAAG1", "kidney-associated antigen 1", "ru2, antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353219 ; - skos:exactMatch HGNC_symbol:KAAG1 ; + skos:exactMatch UMLS:C1427257, + HGNC:21031, + HGNC_symbol:KAAG1 ; biolink:category biolink:Gene . OMIM:608212 a owl:Class ; @@ -249095,8 +258320,6 @@ OMIM:608212 a owl:Class ; PMID:7561525 ; RO:0002525 CHR:9606chr5q33.1 ; RO:0003303 OMIM:607948 ; - oboInOwl:hasDbXref UMLS:C1537424, - UMLS:C2677079 ; oboInOwl:hasExactSynonym "IRGM", "immunity-related gtpase family, m", "interferon-inducible protein 1, mouse, homolog of", @@ -249104,20 +258327,24 @@ OMIM:608212 a owl:Class ; "lrg47, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345611 ; - skos:exactMatch HGNC_symbol:IRGM ; + skos:exactMatch UMLS:C1537424, + UMLS:C2677079, + HGNC:29597, + HGNC_symbol:IRGM ; biolink:category biolink:Gene . OMIM:608213 a owl:Class ; rdfs:label "CEND1" ; IAO:0000142 PMID:11311134, PMID:17971443 ; - oboInOwl:hasDbXref UMLS:C1824699 ; oboInOwl:hasExactSynonym "CEND1", "bm88 antigen", "cell cycle exit and neuronal differentiation 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51286 ; - skos:exactMatch HGNC_symbol:CEND1 ; + skos:exactMatch UMLS:C1824699, + HGNC:24153, + HGNC_symbol:CEND1 ; biolink:category biolink:Gene . OMIM:608214 a owl:Class ; @@ -249129,18 +258356,19 @@ OMIM:608214 a owl:Class ; PMID:21051419 ; RO:0002525 CHR:9606chr11q24.1 ; RO:0003303 OMIM:613120 ; - oboInOwl:hasDbXref UMLS:C1427065, - UMLS:C2751088, - UMLS:C2986382, - UMLS:C4013699, - UMLS:C4017659 ; oboInOwl:hasExactSynonym "SCN3B", "sodium channel, beta-3 subunit", "sodium channel, voltage-gated, iia iii, beta subunit", "sodium voltage-gated channel, beta subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55800 ; - skos:exactMatch HGNC_symbol:SCN3B ; + skos:exactMatch UMLS:C1427065, + UMLS:C2751088, + UMLS:C2986382, + UMLS:C4013699, + UMLS:C4017659, + HGNC:20665, + HGNC_symbol:SCN3B ; biolink:category biolink:Gene . OMIM:608215 a owl:Class ; @@ -249151,13 +258379,14 @@ OMIM:608215 a owl:Class ; PMID:21658586, PMID:23229549, PMID:28847002 ; - oboInOwl:hasDbXref UMLS:C1427729 ; oboInOwl:hasExactSynonym "LHX6", "lhx6.1", "lim homeobox gene 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26468 ; - skos:exactMatch HGNC_symbol:LHX6 ; + skos:exactMatch UMLS:C1427729, + HGNC:21735, + HGNC_symbol:LHX6 ; biolink:category biolink:Gene . OMIM:608216 a owl:Class ; @@ -249166,24 +258395,25 @@ OMIM:608216 a owl:Class ; PMID:11871861, PMID:15799966, PMID:21778237 ; - oboInOwl:hasDbXref UMLS:C1425162 ; oboInOwl:hasExactSynonym "COMMD5", "comm domain-containing protein 5", "copper metabolism murr1 domain-containing protein 5", "hypertension-related calcium-regulated gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28991 ; - skos:exactMatch HGNC_symbol:COMMD5 ; + skos:exactMatch UMLS:C1425162, + HGNC:17902, + HGNC_symbol:COMMD5 ; biolink:category biolink:Gene . OMIM:608217 a owl:Class ; rdfs:label "seizures, benign familial neonatal, 3" ; IAO:0000142 PMID:11897828 ; - oboInOwl:hasDbXref UMLS:C1842382 ; oboInOwl:hasExactSynonym "BFNS3", "convulsions, benign familial neonatal, 3", "seizures, benign familial neonatal, 3" ; rdfs:subClassOf OMIMPS:121200 ; + skos:exactMatch UMLS:C1842382 ; biolink:category biolink:Disease . OMIM:608218 a owl:Class ; @@ -249191,7 +258421,6 @@ OMIM:608218 a owl:Class ; IAO:0000142 PMID:11279113, PMID:1696264, PMID:7689500 ; - oboInOwl:hasDbXref UMLS:C1426926 ; oboInOwl:hasExactSynonym "KRT20", "cytokeratin 20", "k20", @@ -249200,7 +258429,9 @@ OMIM:608218 a owl:Class ; "keratin 21, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54474 ; - skos:exactMatch HGNC_symbol:KRT20 ; + skos:exactMatch UMLS:C1426926, + HGNC:20412, + HGNC_symbol:KRT20 ; biolink:category biolink:Gene . OMIM:608221 a owl:Class ; @@ -249215,14 +258446,15 @@ OMIM:608221 a owl:Class ; PMID:22102272, PMID:26136524, PMID:30252678 ; - oboInOwl:hasDbXref UMLS:C1425975 ; oboInOwl:hasExactSynonym "MASTL", "flj14813", "greatwall", "microtubule-associated serine/threonine kinase-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84930 ; - skos:exactMatch HGNC_symbol:MASTL ; + skos:exactMatch UMLS:C1425975, + HGNC:19042, + HGNC_symbol:MASTL ; biolink:category biolink:Gene . OMIM:608222 a owl:Class ; @@ -249247,13 +258479,14 @@ OMIM:608222 a owl:Class ; PMID:9545543 ; RO:0002525 CHR:9606chr22q13.1 ; RO:0003303 OMIM:103050 ; - oboInOwl:hasDbXref UMLS:C1412262 ; oboInOwl:hasExactSynonym "ADSL", "adenylosuccinase", "adenylosuccinate lyase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158 ; - skos:exactMatch HGNC_symbol:ADSL ; + skos:exactMatch UMLS:C1412262, + HGNC:291, + HGNC_symbol:ADSL ; biolink:category biolink:Gene . OMIM:608223 a owl:Class ; @@ -249271,21 +258504,22 @@ OMIM:608223 a owl:Class ; PMID:8298418, PMID:8312766, PMID:9259670 ; - oboInOwl:hasDbXref UMLS:C1842372 ; oboInOwl:hasExactSynonym "aspirin resistance", "aspirin, resistance to antithrombotic effect of", - "aspirin, resistance to cardioprotective effect of" . + "aspirin, resistance to cardioprotective effect of" ; + skos:exactMatch UMLS:C1842372 . OMIM:608225 a owl:Class ; rdfs:label "GALNT14" ; IAO:0000142 PMID:12507512 ; - oboInOwl:hasDbXref UMLS:C1427801 ; oboInOwl:hasExactSynonym "GALNT14", "galnac transferase 14", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79623 ; - skos:exactMatch HGNC_symbol:GALNT14 ; + skos:exactMatch UMLS:C1427801, + HGNC:22946, + HGNC_symbol:GALNT14 ; biolink:category biolink:Gene . OMIM:608226 a owl:Class ; @@ -249296,21 +258530,22 @@ OMIM:608226 a owl:Class ; PMID:23315541 ; RO:0002525 CHR:9606chr10q26.11 ; RO:0003303 OMIM:615413 ; - oboInOwl:hasDbXref UMLS:C1427871 ; oboInOwl:hasExactSynonym "NANOS1", "nanos c2hc-type zinc finger 1", "nanos, drosophila, homolog of, 1", "nos1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340719 ; - skos:exactMatch HGNC_symbol:NANOS1 ; + skos:exactMatch UMLS:C1427871, + HGNC:23044, + HGNC_symbol:NANOS1 ; biolink:category biolink:Gene . OMIM:608227 a owl:Class ; rdfs:label "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation" ; IAO:0000142 PMID:11836368 ; - oboInOwl:hasDbXref UMLS:C1842363 ; - oboInOwl:hasExactSynonym "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation" . + oboInOwl:hasExactSynonym "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation" ; + skos:exactMatch UMLS:C1842363 . OMIM:608228 a owl:Class ; rdfs:label "NANOS2" ; @@ -249321,14 +258556,15 @@ OMIM:608228 a owl:Class ; PMID:23228893, PMID:25416063, PMID:28071690 ; - oboInOwl:hasDbXref UMLS:C1428026 ; oboInOwl:hasExactSynonym "NANOS2", "nanos c2hc-type zinc finger 2", "nanos, drosophila, homolog of, 2", "nos2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339345 ; - skos:exactMatch HGNC_symbol:NANOS2 ; + skos:exactMatch UMLS:C1428026, + HGNC:23292, + HGNC_symbol:NANOS2 ; biolink:category biolink:Gene . OMIM:608229 a owl:Class ; @@ -249337,14 +258573,15 @@ OMIM:608229 a owl:Class ; PMID:19565640, PMID:23228893, PMID:25416063 ; - oboInOwl:hasDbXref UMLS:C1427754 ; oboInOwl:hasExactSynonym "NANOS3", "nanos c2hc-type zinc finger 3", "nanos, drosophila, homolog of, 3", "nos3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342977 ; - skos:exactMatch HGNC_symbol:NANOS3 ; + skos:exactMatch UMLS:C1427754, + HGNC:22048, + HGNC_symbol:NANOS3 ; biolink:category biolink:Gene . OMIM:608230 a owl:Class ; @@ -249353,63 +258590,68 @@ OMIM:608230 a owl:Class ; PMID:10749850, PMID:11927664, PMID:12080115 ; - oboInOwl:hasDbXref UMLS:C1413063 ; oboInOwl:hasExactSynonym "CACNA1I", "calcium channel, voltage-dependent, t type, alpha-1i subunit", "kiaa1120" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8911 ; - skos:exactMatch HGNC_symbol:CACNA1I ; + skos:exactMatch UMLS:C1413063, + HGNC:1396, + HGNC_symbol:CACNA1I ; biolink:category biolink:Gene . OMIM:608231 a owl:Class ; rdfs:label "RASSF8" ; IAO:0000142 PMID:11836357, PMID:12477932 ; - oboInOwl:hasDbXref UMLS:C1826768 ; oboInOwl:hasExactSynonym "RASSF8", "chromosome 12 open reading frame 2", "ras association domain family, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11228 ; - skos:exactMatch HGNC_symbol:RASSF8 ; + skos:exactMatch UMLS:C1826768, + HGNC:13232, + HGNC_symbol:RASSF8 ; biolink:category biolink:Gene . OMIM:608234 a owl:Class ; rdfs:label "GAL3ST3" ; IAO:0000142 PMID:11323440, PMID:11356829 ; - oboInOwl:hasDbXref UMLS:C1428352 ; oboInOwl:hasExactSynonym "GAL3ST3", "gal3st2", "galactose-3-o-sulfotransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89792 ; - skos:exactMatch HGNC_symbol:GAL3ST3 ; + skos:exactMatch UMLS:C1428352, + HGNC:24144, + HGNC_symbol:GAL3ST3 ; biolink:category biolink:Gene . OMIM:608235 a owl:Class ; rdfs:label "GAL3ST4" ; IAO:0000142 PMID:11333265 ; - oboInOwl:hasDbXref UMLS:C1428353 ; oboInOwl:hasExactSynonym "GAL3ST4", "galactose-3-o-sulfotransferase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79690 ; - skos:exactMatch HGNC_symbol:GAL3ST4 ; + skos:exactMatch UMLS:C1428353, + HGNC:24145, + HGNC_symbol:GAL3ST4 ; biolink:category biolink:Gene . OMIM:608237 a owl:Class ; rdfs:label "GAL3ST2" ; IAO:0000142 PMID:11029462, PMID:16516177 ; - oboInOwl:hasDbXref UMLS:C1428421 ; oboInOwl:hasExactSynonym "GAL3ST2", "galactose-3-o-sulfotransferase 2", "glycoprotein beta-galactose 3-prime-sulfotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64090 ; - skos:exactMatch HGNC_symbol:GAL3ST2 ; + skos:exactMatch UMLS:C1428421, + HGNC:24869, + HGNC_symbol:GAL3ST2 ; biolink:category biolink:Gene . OMIM:608238 a owl:Class ; @@ -249418,14 +258660,15 @@ OMIM:608238 a owl:Class ; PMID:24872421 ; RO:0002525 CHR:9606chr15q21.2 ; RO:0003303 OMIM:619549 ; - oboInOwl:hasDbXref UMLS:C1842356 ; oboInOwl:hasExactSynonym "SPPL2A", "intramembrane protease 3", "signal peptide peptidase-like 2a", "spp-like 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84888 ; - skos:exactMatch HGNC_symbol:SPPL2A ; + skos:exactMatch UMLS:C1842356, + HGNC:30227, + HGNC_symbol:SPPL2A ; biolink:category biolink:Gene . OMIM:608239 a owl:Class ; @@ -249433,27 +258676,29 @@ OMIM:608239 a owl:Class ; IAO:0000142 PMID:10819331, PMID:12139484, PMID:22194595 ; - oboInOwl:hasDbXref UMLS:C1842355 ; oboInOwl:hasExactSynonym "intramembrane protease 4", "kiaa1532", "signal peptide peptidase-like 2b", "spp-like 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56928 ; - skos:exactMatch HGNC_symbol:SPPL2B ; + skos:exactMatch UMLS:C1842355, + HGNC:30627, + HGNC_symbol:SPPL2B ; biolink:category biolink:Gene . OMIM:608240 a owl:Class ; rdfs:label "SPPL3" ; IAO:0000142 PMID:12139484 ; - oboInOwl:hasDbXref UMLS:C1842354 ; oboInOwl:hasExactSynonym "SPPL3", "intramembrane protease 2", "signal peptide peptidase-like 3", "spp-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121665 ; - skos:exactMatch HGNC_symbol:SPPL3 ; + skos:exactMatch UMLS:C1842354, + HGNC:30424, + HGNC_symbol:SPPL3 ; biolink:category biolink:Gene . OMIM:608241 a owl:Class ; @@ -249464,12 +258709,13 @@ OMIM:608241 a owl:Class ; PMID:22279524 ; RO:0002525 CHR:9606chr1p34.3 ; RO:0003303 OMIM:614501 ; - oboInOwl:hasDbXref UMLS:C1822806 ; oboInOwl:hasExactSynonym "SNIP1", "smad nuclear interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79753 ; - skos:exactMatch HGNC_symbol:SNIP1 ; + skos:exactMatch UMLS:C1822806, + HGNC:30587, + HGNC_symbol:SNIP1 ; biolink:category biolink:Gene . OMIM:608242 a owl:Class ; @@ -249477,13 +258723,14 @@ OMIM:608242 a owl:Class ; IAO:0000142 PMID:10581175, PMID:15676274, PMID:16815975 ; - oboInOwl:hasDbXref UMLS:C1332749 ; oboInOwl:hasExactSynonym "HERC5", "cyclin e-binding protein 1", "hect domain and rcc1-like domain 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51191 ; - skos:exactMatch HGNC_symbol:HERC5 ; + skos:exactMatch UMLS:C1332749, + HGNC:24368, + HGNC_symbol:HERC5 ; biolink:category biolink:Gene . OMIM:608243 a owl:Class ; @@ -249493,8 +258740,6 @@ OMIM:608243 a owl:Class ; PMID:27427983 ; RO:0002525 CHR:9606chr15q13.1 ; RO:0003303 OMIM:617241 ; - oboInOwl:hasDbXref UMLS:C1417615, - UMLS:C4310653 ; oboInOwl:hasExactSynonym "NSMCE3", "melanoma antigen, family g, 1", "necdin-like gene 2", @@ -249503,7 +258748,10 @@ OMIM:608243 a owl:Class ; "nse3 homolog, smc5-smc6 complex component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56160 ; - skos:exactMatch HGNC_symbol:NSMCE3 ; + skos:exactMatch UMLS:C1417615, + UMLS:C4310653, + HGNC:7677, + HGNC_symbol:NSMCE3 ; biolink:category biolink:Gene . OMIM:608245 a owl:Class ; @@ -249517,7 +258765,6 @@ OMIM:608245 a owl:Class ; PMID:22592156 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:615896 ; - oboInOwl:hasDbXref UMLS:C1825759 ; oboInOwl:hasExactSynonym "KRT71", "k6irs1", "k71", @@ -249526,14 +258773,15 @@ OMIM:608245 a owl:Class ; "keratin 71, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112802 ; - skos:exactMatch HGNC_symbol:KRT71 ; + skos:exactMatch UMLS:C1825759, + HGNC:28927, + HGNC_symbol:KRT71 ; biolink:category biolink:Gene . OMIM:608246 a owl:Class ; rdfs:label "KRT72" ; IAO:0000142 PMID:11703281, PMID:12648212 ; - oboInOwl:hasDbXref UMLS:C1825760 ; oboInOwl:hasExactSynonym "KRT72", "k6irs2", "k72", @@ -249542,13 +258790,14 @@ OMIM:608246 a owl:Class ; "keratin 72, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140807 ; - skos:exactMatch HGNC_symbol:KRT72 ; + skos:exactMatch UMLS:C1825760, + HGNC:28932, + HGNC_symbol:KRT72 ; biolink:category biolink:Gene . OMIM:608247 a owl:Class ; rdfs:label "KRT73" ; IAO:0000142 PMID:12648212 ; - oboInOwl:hasDbXref UMLS:C1825761 ; oboInOwl:hasExactSynonym "KRT73", "k6irs3", "k73", @@ -249557,7 +258806,9 @@ OMIM:608247 a owl:Class ; "keratin 73, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:319101 ; - skos:exactMatch HGNC_symbol:KRT73 ; + skos:exactMatch UMLS:C1825761, + HGNC:28928, + HGNC_symbol:KRT73 ; biolink:category biolink:Gene . OMIM:608248 a owl:Class ; @@ -249569,7 +258820,6 @@ OMIM:608248 a owl:Class ; PMID:24714551 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:194300 ; - oboInOwl:hasDbXref UMLS:C1825762 ; oboInOwl:hasExactSynonym "KRT74", "k6irs4", "k74", @@ -249578,7 +258828,9 @@ OMIM:608248 a owl:Class ; "keratin 74, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121391 ; - skos:exactMatch HGNC_symbol:KRT74 ; + skos:exactMatch UMLS:C1825762, + HGNC:28929, + HGNC_symbol:KRT74 ; biolink:category biolink:Gene . OMIM:608249 a owl:Class ; @@ -249588,8 +258840,6 @@ OMIM:608249 a owl:Class ; PMID:24390283, PMID:28059716, PMID:8889551 ; - oboInOwl:hasDbXref UMLS:C1426243, - UMLS:C1842352 ; oboInOwl:hasExactSynonym "CCNB1IP1", "chromosome 14 open reading frame 18", "cyclin b1 interacting protein 1", @@ -249597,7 +258847,10 @@ OMIM:608249 a owl:Class ; "human enhancer of invasion 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57820 ; - skos:exactMatch HGNC_symbol:CCNB1IP1 ; + skos:exactMatch UMLS:C1426243, + UMLS:C1842352, + HGNC:19437, + HGNC_symbol:CCNB1IP1 ; biolink:category biolink:Gene . OMIM:608250 a owl:Class ; @@ -249605,14 +258858,15 @@ OMIM:608250 a owl:Class ; IAO:0000142 PMID:11909966, PMID:12724404, PMID:14522945 ; - oboInOwl:hasDbXref UMLS:C1842351 ; oboInOwl:hasExactSynonym "SUDS3", "sds3 homolog, sin3a corepressor complex component", "sds3, yeast, homolog of", "sin3a-associated protein, 45-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64426 ; - skos:exactMatch HGNC_symbol:SUDS3 ; + skos:exactMatch UMLS:C1842351, + HGNC:29545, + HGNC_symbol:SUDS3 ; biolink:category biolink:Gene . OMIM:608252 a owl:Class ; @@ -249621,26 +258875,28 @@ OMIM:608252 a owl:Class ; PMID:1710979, PMID:2476666, PMID:8247004 ; - oboInOwl:hasDbXref UMLS:C1842350 ; oboInOwl:hasExactSynonym "AFAP1", "actin filament-associated protein 1", "afap", "afap, 110-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60312 ; - skos:exactMatch HGNC_symbol:AFAP1 ; + skos:exactMatch UMLS:C1842350, + HGNC:24017, + HGNC_symbol:AFAP1 ; biolink:category biolink:Gene . OMIM:608253 a owl:Class ; rdfs:label "TSKS" ; IAO:0000142 PMID:11444856, PMID:15044604 ; - oboInOwl:hasDbXref UMLS:C1336680 ; oboInOwl:hasExactSynonym "TSKS", "testis-specific kinase substrate" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60385 ; - skos:exactMatch HGNC_symbol:TSKS ; + skos:exactMatch UMLS:C1336680, + HGNC:30719, + HGNC_symbol:TSKS ; biolink:category biolink:Gene . OMIM:608254 a owl:Class ; @@ -249651,26 +258907,28 @@ OMIM:608254 a owl:Class ; PMID:16175510, PMID:17500065, PMID:20671152 ; - oboInOwl:hasDbXref UMLS:C1538593 ; oboInOwl:hasExactSynonym "PAXIP1", "pax transactivation domain-interacting protein", "pax transcription activation domain-interacting protein 1", "paxip1l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22976 ; - skos:exactMatch HGNC_symbol:PAXIP1 ; + skos:exactMatch UMLS:C1538593, + HGNC:8624, + HGNC_symbol:PAXIP1 ; biolink:category biolink:Gene . OMIM:608255 a owl:Class ; rdfs:label "TRAF3IP3" ; IAO:0000142 PMID:14572659 ; - oboInOwl:hasDbXref UMLS:C1823476 ; oboInOwl:hasExactSynonym "TRAF3IP3", "traf3-interacting jnk-activating modulator", "traf3-interacting protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80342 ; - skos:exactMatch HGNC_symbol:TRAF3IP3 ; + skos:exactMatch UMLS:C1823476, + HGNC:30766, + HGNC_symbol:TRAF3IP3 ; biolink:category biolink:Gene . OMIM:608256 a owl:Class ; @@ -249681,34 +258939,36 @@ OMIM:608256 a owl:Class ; PMID:23604097 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:611819 ; - oboInOwl:hasDbXref UMLS:C1419863, - UMLS:C2678484, - UMLS:C4013560 ; oboInOwl:hasExactSynonym "SCN4B", "sodium channel, voltage-gated, iia iv, beta subunit", "sodium voltage-gated channel, beta subunit 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6330 ; - skos:exactMatch HGNC_symbol:SCN4B ; + skos:exactMatch UMLS:C1419863, + UMLS:C2678484, + UMLS:C4013560, + HGNC:10592, + HGNC_symbol:SCN4B ; biolink:category biolink:Gene . OMIM:608257 a owl:Class ; rdfs:label "mandibulofacial dysostosis with ptosis, autosomal dominant" ; IAO:0000142 PMID:12114479 ; - oboInOwl:hasDbXref UMLS:C1842349 ; - oboInOwl:hasExactSynonym "mandibulofacial dysostosis with ptosis, autosomal dominant" . + oboInOwl:hasExactSynonym "mandibulofacial dysostosis with ptosis, autosomal dominant" ; + skos:exactMatch UMLS:C1842349 . OMIM:608258 a owl:Class ; rdfs:label "DPP9" ; IAO:0000142 PMID:12459266, PMID:12662155 ; - oboInOwl:hasDbXref UMLS:C1425675 ; oboInOwl:hasExactSynonym "DPP9", "dipeptidyl peptidase 9", "dipeptidyl peptidase iv-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91039 ; - skos:exactMatch HGNC_symbol:DPP9 ; + skos:exactMatch UMLS:C1425675, + HGNC:18648, + HGNC_symbol:DPP9 ; biolink:category biolink:Gene . OMIM:608259 a owl:Class ; @@ -249719,7 +258979,6 @@ OMIM:608259 a owl:Class ; PMID:18412154, PMID:9178771, PMID:9891060 ; - oboInOwl:hasDbXref UMLS:C1825578 ; oboInOwl:hasExactSynonym "IGF2BP3", "igf2 mrna-binding protein 3", "insulin-like growth factor 2 mrna-binding protein 3", @@ -249727,21 +258986,24 @@ OMIM:608259 a owl:Class ; "vickz3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10643 ; - skos:exactMatch HGNC_symbol:IGF2BP3 ; + skos:exactMatch UMLS:C1825578, + HGNC:28868, + HGNC_symbol:IGF2BP3 ; biolink:category biolink:Gene . OMIM:608260 a owl:Class ; rdfs:label "KCNH8" ; IAO:0000142 PMID:11897058, PMID:12890647 ; - oboInOwl:hasDbXref UMLS:C1425835 ; oboInOwl:hasExactSynonym "KCNH8", "eag-like potassium channel 1", "ether-a-go-go-like potassium channel 1", "potassium channel, voltage-gated, subfamily h, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131096 ; - skos:exactMatch HGNC_symbol:KCNH8 ; + skos:exactMatch UMLS:C1425835, + HGNC:18864, + HGNC_symbol:KCNH8 ; biolink:category biolink:Gene . OMIM:608261 a owl:Class ; @@ -249751,7 +259013,6 @@ OMIM:608261 a owl:Class ; PMID:11896061, PMID:12192048, PMID:17095700 ; - oboInOwl:hasDbXref UMLS:C1427927 ; oboInOwl:hasExactSynonym "SENP2", "axam2, rat, homolog of", "kiaa1331", @@ -249760,28 +259021,29 @@ OMIM:608261 a owl:Class ; "sumo-specific protease 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59343 ; - skos:exactMatch HGNC_symbol:SENP2 ; + skos:exactMatch UMLS:C1427927, + HGNC:23116, + HGNC_symbol:SENP2 ; biolink:category biolink:Gene . OMIM:608262 a owl:Class ; rdfs:label "DIRC3" ; IAO:0000142 PMID:12939738 ; - oboInOwl:hasDbXref UMLS:C1425089, - UMLS:C1842347 ; oboInOwl:hasExactSynonym "DIRC3", "dirc3/hspbap1 fusion gene", "disrupted 1n renal carcinoma 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729582 ; - skos:exactMatch HGNC_symbol:DIRC3 ; + skos:exactMatch UMLS:C1425089, + UMLS:C1842347, + HGNC:17805, + HGNC_symbol:DIRC3 ; biolink:category biolink:Gene . OMIM:608263 a owl:Class ; rdfs:label "HSPBAP1" ; IAO:0000142 PMID:11978969, PMID:12939738 ; - oboInOwl:hasDbXref UMLS:C1424240, - UMLS:C1842347 ; oboInOwl:hasExactSynonym "HSPBAP1", "heat-shock 27-kd protein-associated protein 1", "hspb-associated protein 1", @@ -249789,20 +259051,24 @@ OMIM:608263 a owl:Class ; "pass1, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79663 ; - skos:exactMatch HGNC_symbol:HSPBAP1 ; + skos:exactMatch UMLS:C1424240, + UMLS:C1842347, + HGNC:16389, + HGNC_symbol:HSPBAP1 ; biolink:category biolink:Gene . OMIM:608267 a owl:Class ; rdfs:label "RRAGC" ; IAO:0000142 PMID:11073942, PMID:18497260 ; - oboInOwl:hasDbXref UMLS:C1426517 ; oboInOwl:hasExactSynonym "RRAGC", "ragc", "ras-related gtp-binding protein c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64121 ; - skos:exactMatch HGNC_symbol:RRAGC ; + skos:exactMatch UMLS:C1426517, + HGNC:19902, + HGNC_symbol:RRAGC ; biolink:category biolink:Gene . OMIM:608268 a owl:Class ; @@ -249810,26 +259076,28 @@ OMIM:608268 a owl:Class ; IAO:0000142 PMID:11073942, PMID:18497260, PMID:28619945 ; - oboInOwl:hasDbXref UMLS:C1426518 ; oboInOwl:hasExactSynonym "RRAGD", "ragd", "ras-related gtp-binding protein d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58528 ; - skos:exactMatch HGNC_symbol:RRAGD ; + skos:exactMatch UMLS:C1426518, + HGNC:19903, + HGNC_symbol:RRAGD ; biolink:category biolink:Gene . OMIM:608269 a owl:Class ; rdfs:label "SLC28A3" ; IAO:0000142 PMID:11032837, PMID:16015647 ; - oboInOwl:hasDbXref UMLS:C1424316 ; oboInOwl:hasExactSynonym "SLC28A3", "concentrative nucleoside transporter 3", "solute carrier family 28 (sodium-coupled nucleoside transporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64078 ; - skos:exactMatch HGNC_symbol:SLC28A3 ; + skos:exactMatch UMLS:C1424316, + HGNC:16484, + HGNC_symbol:SLC28A3 ; biolink:category biolink:Gene . OMIM:608270 a owl:Class ; @@ -249841,16 +259109,17 @@ OMIM:608270 a owl:Class ; PMID:31350873 ; RO:0002525 CHR:9606chr20p12.1 ; RO:0003303 OMIM:618950 ; - oboInOwl:hasDbXref UMLS:C1823228, - UMLS:C2986382, - UMLS:C5436458 ; oboInOwl:hasExactSynonym "TASP1", "chromosome 20 open reading frame 13", "taspase 1", "threonine aspartase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55617 ; - skos:exactMatch HGNC_symbol:TASP1 ; + skos:exactMatch UMLS:C1823228, + UMLS:C2986382, + UMLS:C5436458, + HGNC:15859, + HGNC_symbol:TASP1 ; biolink:category biolink:Gene . OMIM:608271 a owl:Class ; @@ -249868,8 +259137,6 @@ OMIM:608271 a owl:Class ; PMID:30471716 ; RO:0002525 CHR:9606chr1p34.3 ; RO:0003303 OMIM:618325 ; - oboInOwl:hasDbXref UMLS:C1422134, - UMLS:C5193029 ; oboInOwl:hasExactSynonym "MACF1", "actin cross-linking factor 7", "kiaa1251", @@ -249878,7 +259145,10 @@ OMIM:608271 a owl:Class ; "trabeculin-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23499 ; - skos:exactMatch HGNC_symbol:MACF1 ; + skos:exactMatch UMLS:C1422134, + UMLS:C5193029, + HGNC:13664, + HGNC_symbol:MACF1 ; biolink:category biolink:Gene . OMIM:608272 a owl:Class ; @@ -249912,14 +259182,15 @@ OMIM:608272 a owl:Class ; PMID:9054950 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:256550 ; - oboInOwl:hasDbXref UMLS:C1417680 ; oboInOwl:hasExactSynonym "NEU1", "neuraminidase 1", "sialidase 1", "sialidase, lysosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4758 ; - skos:exactMatch HGNC_symbol:NEU1 ; + skos:exactMatch UMLS:C1417680, + HGNC:7758, + HGNC_symbol:NEU1 ; biolink:category biolink:Gene . OMIM:608273 a owl:Class ; @@ -249930,7 +259201,6 @@ OMIM:608273 a owl:Class ; PMID:15749890, PMID:16906166, PMID:16906167 ; - oboInOwl:hasDbXref UMLS:C1426048 ; oboInOwl:hasExactSynonym "IL27", "il27p28", "interleukin 27", @@ -249938,7 +259208,9 @@ OMIM:608273 a owl:Class ; "interleukin 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246778 ; - skos:exactMatch HGNC_symbol:IL27 ; + skos:exactMatch UMLS:C1426048, + HGNC:19157, + HGNC_symbol:IL27 ; biolink:category biolink:Gene . OMIM:608274 a owl:Class ; @@ -249947,38 +259219,41 @@ OMIM:608274 a owl:Class ; PMID:16600869, PMID:17898714, PMID:19300908 ; - oboInOwl:hasDbXref UMLS:C1826701 ; oboInOwl:hasExactSynonym "PRMT6", "protein arginine methyltransferase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55170 ; - skos:exactMatch HGNC_symbol:PRMT6 ; + skos:exactMatch UMLS:C1826701, + HGNC:18241, + HGNC_symbol:PRMT6 ; biolink:category biolink:Gene . OMIM:608275 a owl:Class ; rdfs:label "SLC22A15" ; IAO:0000142 PMID:12372408 ; - oboInOwl:hasDbXref UMLS:C1426842 ; oboInOwl:hasExactSynonym "SLC22A15", "fly-like putative transporter 1", "solute carrier family 22 (organic cation transporter), member 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55356 ; - skos:exactMatch HGNC_symbol:SLC22A15 ; + skos:exactMatch UMLS:C1426842, + HGNC:20301, + HGNC_symbol:SLC22A15 ; biolink:category biolink:Gene . OMIM:608276 a owl:Class ; rdfs:label "SLC22A16" ; IAO:0000142 PMID:12089149, PMID:12372408 ; - oboInOwl:hasDbXref UMLS:C1426843 ; oboInOwl:hasExactSynonym "SLC22A16", "carnitine transporter 2", "fly-like putative transporter 2", "solute carrier family 22 (organic cation transporter), member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85413 ; - skos:exactMatch HGNC_symbol:SLC22A16 ; + skos:exactMatch UMLS:C1426843, + HGNC:20302, + HGNC_symbol:SLC22A16 ; biolink:category biolink:Gene . OMIM:608277 a owl:Class ; @@ -249988,7 +259263,6 @@ OMIM:608277 a owl:Class ; PMID:11572857, PMID:9628581, PMID:9754571 ; - oboInOwl:hasDbXref UMLS:C1842325 ; oboInOwl:hasExactSynonym "CHST15", "b-cell rag-associated gene", "carbohydrate sulfotransferase 15", @@ -249997,53 +259271,57 @@ OMIM:608277 a owl:Class ; "n-acetylgalactosamine 4-sulfate 6-o-sulfotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51363 ; - skos:exactMatch HGNC_symbol:CHST15 ; + skos:exactMatch UMLS:C1842325, + HGNC:18137, + HGNC_symbol:CHST15 ; biolink:category biolink:Gene . OMIM:608278 a owl:Class ; rdfs:label "growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" ; IAO:0000142 PMID:12494436 ; - oboInOwl:hasDbXref UMLS:C1842321 ; - oboInOwl:hasExactSynonym "growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" . + oboInOwl:hasExactSynonym "growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" ; + skos:exactMatch UMLS:C1842321 . OMIM:608279 a owl:Class ; rdfs:label "craniosynostosis with ocular abnormalities and hallucal defects" ; IAO:0000142 PMID:12407713 ; - oboInOwl:hasDbXref UMLS:C1842316 ; - oboInOwl:hasExactSynonym "craniosynostosis with ocular abnormalities and hallucal defects" . + oboInOwl:hasExactSynonym "craniosynostosis with ocular abnormalities and hallucal defects" ; + skos:exactMatch UMLS:C1842316 . OMIM:608280 a owl:Class ; rdfs:label "GAS5" ; IAO:0000142 PMID:11054530, PMID:9819378 ; - oboInOwl:hasDbXref UMLS:C1424213 ; oboInOwl:hasExactSynonym "GAS5", "growth arrest-specific 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60674 ; - skos:exactMatch HGNC_symbol:GAS5 ; + skos:exactMatch UMLS:C1424213, + HGNC:16355, + HGNC_symbol:GAS5 ; biolink:category biolink:Gene . OMIM:608281 a owl:Class ; rdfs:label "scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities" ; IAO:0000142 PMID:12494437 ; - oboInOwl:hasDbXref UMLS:C1842315 ; oboInOwl:hasExactSynonym "anomalous pulmonary venous return, multiple cardiac malformations, and craniofacial and central nervous system abnormalities", - "scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities" . + "scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities" ; + skos:exactMatch UMLS:C1842315 . OMIM:608282 a owl:Class ; rdfs:label "TAAR9" ; IAO:0000142 PMID:11459929, PMID:14559210, PMID:15718104 ; - oboInOwl:hasDbXref UMLS:C1539916 ; oboInOwl:hasExactSynonym "TAAR9", "tar3", "trace amine receptor 3", "trace amine-associated receptor 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134860 ; - skos:exactMatch HGNC_symbol:TAAR9 ; + skos:exactMatch UMLS:C1539916, + HGNC:20977, + HGNC_symbol:TAAR9 ; biolink:category biolink:Gene . OMIM:608283 a owl:Class ; @@ -250060,24 +259338,26 @@ OMIM:608283 a owl:Class ; PMID:19551685 ; RO:0002525 CHR:9606chr12q12 ; RO:0003303 OMIM:135700 ; - oboInOwl:hasDbXref UMLS:C1426181 ; oboInOwl:hasExactSynonym "KIF21A", "kiaa1708", "kinesin family member 21a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55605 ; - skos:exactMatch HGNC_symbol:KIF21A ; + skos:exactMatch UMLS:C1426181, + HGNC:19349, + HGNC_symbol:KIF21A ; biolink:category biolink:Gene . OMIM:608284 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12139484 ; - oboInOwl:hasDbXref UMLS:C1842308 ; oboInOwl:hasExactSynonym "imp5", "intramembrane protease 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162540 ; - skos:exactMatch HGNC_symbol:SPPL2C ; + skos:exactMatch UMLS:C1842308, + HGNC:28902, + HGNC_symbol:SPPL2C ; biolink:category biolink:Gene . OMIM:608285 a owl:Class ; @@ -250086,13 +259366,14 @@ OMIM:608285 a owl:Class ; PMID:31883644 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:618845 ; - oboInOwl:hasDbXref UMLS:C1826343, - UMLS:C5394250 ; oboInOwl:hasExactSynonym "NADSYN1", "nad synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55191 ; - skos:exactMatch HGNC_symbol:NADSYN1 ; + skos:exactMatch UMLS:C1826343, + UMLS:C5394250, + HGNC:29832, + HGNC_symbol:NADSYN1 ; biolink:category biolink:Gene . OMIM:608286 a owl:Class ; @@ -250100,13 +259381,14 @@ OMIM:608286 a owl:Class ; IAO:0000142 PMID:10718198, PMID:11549318, PMID:18621663 ; - oboInOwl:hasDbXref UMLS:C1421975 ; oboInOwl:hasExactSynonym "PCDH10", "kiaa1400", "protocadherin 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57575 ; - skos:exactMatch HGNC_symbol:PCDH10 ; + skos:exactMatch UMLS:C1421975, + HGNC:13404, + HGNC_symbol:PCDH10 ; biolink:category biolink:Gene . OMIM:608287 a owl:Class ; @@ -250114,13 +259396,14 @@ OMIM:608287 a owl:Class ; IAO:0000142 PMID:10997877, PMID:11549318, PMID:11716507 ; - oboInOwl:hasDbXref UMLS:C1422528 ; oboInOwl:hasExactSynonym "PCDH18", "kiaa1562", "protocadherin 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54510 ; - skos:exactMatch HGNC_symbol:PCDH18 ; + skos:exactMatch UMLS:C1422528, + HGNC:14268, + HGNC_symbol:PCDH18 ; biolink:category biolink:Gene . OMIM:608288 a owl:Class ; @@ -250130,7 +259413,6 @@ OMIM:608288 a owl:Class ; PMID:16306994, PMID:16778892, PMID:9891060 ; - oboInOwl:hasDbXref UMLS:C1825576 ; oboInOwl:hasExactSynonym "IGF2BP1", "coding region determinant-binding protein, mouse, homolog of", "igf2 mrna-binding protein 1", @@ -250138,7 +259420,9 @@ OMIM:608288 a owl:Class ; "zipcode-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10642 ; - skos:exactMatch HGNC_symbol:IGF2BP1 ; + skos:exactMatch UMLS:C1825576, + HGNC:28866, + HGNC_symbol:IGF2BP1 ; biolink:category biolink:Gene . OMIM:608289 a owl:Class ; @@ -250151,14 +259435,15 @@ OMIM:608289 a owl:Class ; PMID:9891060 ; RO:0002525 CHR:9606chr3q27.2 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1825577, - UMLS:C3837967 ; oboInOwl:hasExactSynonym "IGF2BP2", "igf2 mrna-binding protein 2", "insulin-like growth factor 2 mrna-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10644 ; - skos:exactMatch HGNC_symbol:IGF2BP2 ; + skos:exactMatch UMLS:C1825577, + UMLS:C3837967, + HGNC:28867, + HGNC_symbol:IGF2BP2 ; biolink:category biolink:Gene . OMIM:608290 a owl:Class ; @@ -250168,21 +259453,22 @@ OMIM:608290 a owl:Class ; PMID:1628512, PMID:18627052, PMID:19533796 ; - oboInOwl:hasDbXref UMLS:C1842307 ; oboInOwl:hasExactSynonym "ectodermal dysplasia, hypohidrotic, with acanthosis nigricans", "lelis syndrome" ; + skos:exactMatch UMLS:C1842307 ; biolink:category biolink:Disease . OMIM:608291 a owl:Class ; rdfs:label "TTL" ; IAO:0000142 PMID:14571137, PMID:15899979 ; - oboInOwl:hasDbXref UMLS:C1427631 ; oboInOwl:hasExactSynonym "TTL", "tubulin-tyrosine ligase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150465 ; - skos:exactMatch HGNC_symbol:TTL ; + skos:exactMatch UMLS:C1427631, + HGNC:21586, + HGNC_symbol:TTL ; biolink:category biolink:Gene . OMIM:608292 a owl:Class ; @@ -250194,7 +259480,6 @@ OMIM:608292 a owl:Class ; PMID:19767238, PMID:21746876, PMID:21791414 ; - oboInOwl:hasDbXref UMLS:C1422756 ; oboInOwl:hasExactSynonym "STOML2", "paraprotein target 7", "paratarg 7", @@ -250202,49 +259487,54 @@ OMIM:608292 a owl:Class ; "stomatin-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30968 ; - skos:exactMatch HGNC_symbol:STOML2 ; + skos:exactMatch UMLS:C1422756, + HGNC:14559, + HGNC_symbol:STOML2 ; biolink:category biolink:Gene . OMIM:608293 a owl:Class ; rdfs:label "ARHGAP17" ; IAO:0000142 PMID:11431473, PMID:16678097 ; - oboInOwl:hasDbXref UMLS:C1538924 ; oboInOwl:hasExactSynonym "ARHGAP17", "nadrin, rat, homolog of", "rho gtpase-activating protein 17", "rhogap interacting with cip4 homologs 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55114 ; - skos:exactMatch HGNC_symbol:ARHGAP17 ; + skos:exactMatch UMLS:C1538924, + HGNC:18239, + HGNC_symbol:ARHGAP17 ; biolink:category biolink:Gene . OMIM:608294 a owl:Class ; rdfs:label "NME6" ; IAO:0000142 PMID:10453732, PMID:10618642 ; - oboInOwl:hasDbXref UMLS:C1427006 ; oboInOwl:hasExactSynonym "NME6", "nm23h6", "nme/nm23 nucleoside diphosphate kinase 6", "nonmetastatic cells 6, protein expressed 1n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10201 ; - skos:exactMatch HGNC_symbol:NME6 ; + skos:exactMatch UMLS:C1427006, + HGNC:20567, + HGNC_symbol:NME6 ; biolink:category biolink:Gene . OMIM:608295 a owl:Class ; rdfs:label "FAM107A" ; IAO:0000142 PMID:10564580, PMID:10702698 ; - oboInOwl:hasDbXref UMLS:C1842306 ; oboInOwl:hasExactSynonym "FAM107A", "downregulated 1n renal cell carcinoma 1", "family with sequence similarity 107, member a", "tu3a protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11170 ; - skos:exactMatch HGNC_symbol:FAM107A ; + skos:exactMatch UMLS:C1842306, + HGNC:30827, + HGNC_symbol:FAM107A ; biolink:category biolink:Gene . OMIM:608296 a owl:Class ; @@ -250255,12 +259545,13 @@ OMIM:608296 a owl:Class ; PMID:9806903 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:617107 ; - oboInOwl:hasDbXref UMLS:C1333548 ; oboInOwl:hasExactSynonym "FIBP", "fibroblast growth factor, acidic, intracellular binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9158 ; - skos:exactMatch HGNC_symbol:FIBP ; + skos:exactMatch UMLS:C1333548, + HGNC:3705, + HGNC_symbol:FIBP ; biolink:category biolink:Gene . OMIM:608297 a owl:Class ; @@ -250269,26 +259560,28 @@ OMIM:608297 a owl:Class ; OMIM:608298 a owl:Class ; rdfs:label "CCDS80" ; IAO:0000142 PMID:11812002 ; - oboInOwl:hasDbXref UMLS:C1824605 ; oboInOwl:hasExactSynonym "CCDS80", "coiled-coil domain-containing protein 80", "steroid-sensitive gene 1, rat, homolog of", "urb, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151887 ; - skos:exactMatch HGNC_symbol:CCDC80 ; + skos:exactMatch UMLS:C1824605, + HGNC:30649, + HGNC_symbol:CCDC80 ; biolink:category biolink:Gene . OMIM:608299 a owl:Class ; rdfs:label "RNF34" ; IAO:0000142 PMID:12118383 ; - oboInOwl:hasDbXref UMLS:C1424884 ; oboInOwl:hasExactSynonym "RNF34", "ring finger homologous to iap iia", "ring finger protein 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80196 ; - skos:exactMatch HGNC_symbol:RNF34 ; + skos:exactMatch UMLS:C1424884, + HGNC:17297, + HGNC_symbol:RNF34 ; biolink:category biolink:Gene . OMIM:608300 a owl:Class ; @@ -250300,12 +259593,13 @@ OMIM:608300 a owl:Class ; PMID:9877039 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:237310 ; - oboInOwl:hasDbXref UMLS:C1540311 ; oboInOwl:hasExactSynonym "NAGS", "n-acetylglutamate synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162417 ; - skos:exactMatch HGNC_symbol:NAGS ; + skos:exactMatch UMLS:C1540311, + HGNC:17996, + HGNC_symbol:NAGS ; biolink:category biolink:Gene . OMIM:608301 a owl:Class ; @@ -250313,25 +259607,27 @@ OMIM:608301 a owl:Class ; IAO:0000142 PMID:11572484, PMID:12023020, PMID:15857855 ; - oboInOwl:hasDbXref UMLS:C1425729 ; oboInOwl:hasExactSynonym "LGI2", "kiaa1916", "leucine-rich gene, glioma-inactivated, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55203 ; - skos:exactMatch HGNC_symbol:LGI2 ; + skos:exactMatch UMLS:C1425729, + HGNC:18710, + HGNC_symbol:LGI2 ; biolink:category biolink:Gene . OMIM:608302 a owl:Class ; rdfs:label "LGI3" ; IAO:0000142 PMID:12023020, PMID:15857855 ; - oboInOwl:hasDbXref UMLS:C1425730 ; oboInOwl:hasExactSynonym "LGI3", "leucine-rich gene, glioma-inactivated, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203190 ; - skos:exactMatch HGNC_symbol:LGI3 ; + skos:exactMatch UMLS:C1425730, + HGNC:18711, + HGNC_symbol:LGI3 ; biolink:category biolink:Gene . OMIM:608303 a owl:Class ; @@ -250342,25 +259638,27 @@ OMIM:608303 a owl:Class ; PMID:28318499 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:617468 ; - oboInOwl:hasDbXref UMLS:C1425731, - UMLS:C4479539 ; oboInOwl:hasExactSynonym "LGI4", "leucine-rich gene, glioma-inactivated, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163175 ; - skos:exactMatch HGNC_symbol:LGI4 ; + skos:exactMatch UMLS:C1425731, + UMLS:C4479539, + HGNC:18712, + HGNC_symbol:LGI4 ; biolink:category biolink:Gene . OMIM:608304 a owl:Class ; rdfs:label "CTAG3" ; IAO:0000142 PMID:12531476 ; - oboInOwl:hasDbXref UMLS:C1538431 ; oboInOwl:hasExactSynonym "CTAG3", "cancer-associated gene 1", "cancer/testis antigen 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285782 ; - skos:exactMatch HGNC_symbol:CAGE1 ; + skos:exactMatch UMLS:C1538431, + HGNC:21622, + HGNC_symbol:CAGE1 ; biolink:category biolink:Gene . OMIM:608305 a owl:Class ; @@ -250373,14 +259671,15 @@ OMIM:608305 a owl:Class ; PMID:27600704 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:615905 ; - oboInOwl:hasDbXref UMLS:C1427906, - UMLS:C4014621 ; oboInOwl:hasExactSynonym "SLC13A5", "sodium-coupled citrate transporter", "solute carrier family 13 (sodium-dependent citrate transporter), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284111 ; - skos:exactMatch HGNC_symbol:SLC13A5 ; + skos:exactMatch UMLS:C1427906, + UMLS:C4014621, + HGNC:23089, + HGNC_symbol:SLC13A5 ; biolink:category biolink:Gene . OMIM:608306 a owl:Class ; @@ -250388,13 +259687,14 @@ OMIM:608306 a owl:Class ; IAO:0000142 PMID:14526104, PMID:14597661, PMID:16476661 ; - oboInOwl:hasDbXref UMLS:C1426082 ; oboInOwl:hasExactSynonym "SP8", "buttonhead, drosophila, homolog of", "transcription factor sp8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221833 ; - skos:exactMatch HGNC_symbol:SP8 ; + skos:exactMatch UMLS:C1426082, + HGNC:19196, + HGNC_symbol:SP8 ; biolink:category biolink:Gene . OMIM:608307 a owl:Class ; @@ -250432,12 +259732,13 @@ OMIM:608307 a owl:Class ; PMID:9711878 ; RO:0002525 CHR:9606chr2q34 ; RO:0003303 OMIM:615371 ; - oboInOwl:hasDbXref UMLS:C1413683 ; oboInOwl:hasExactSynonym "CPS1", "carbamoyl phosphate synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1373 ; - skos:exactMatch HGNC_symbol:CPS1 ; + skos:exactMatch UMLS:C1413683, + HGNC:2323, + HGNC_symbol:CPS1 ; biolink:category biolink:Gene . OMIM:608308 a owl:Class ; @@ -250445,13 +259746,14 @@ OMIM:608308 a owl:Class ; IAO:0000142 PMID:10891360, PMID:11325847, PMID:11494141 ; - oboInOwl:hasDbXref UMLS:C1425413 ; oboInOwl:hasExactSynonym "ABTB1", "ankyrin repeat and btb/poz domain containing 1", "bpoz" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80325 ; - skos:exactMatch HGNC_symbol:ABTB1 ; + skos:exactMatch UMLS:C1425413, + HGNC:18275, + HGNC_symbol:ABTB1 ; biolink:category biolink:Gene . OMIM:608309 a owl:Class ; @@ -250510,15 +259812,16 @@ OMIM:608309 a owl:Class ; PMID:31316206 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:605909 ; - oboInOwl:hasDbXref UMLS:C1422771, - UMLS:C1853833, - UMLS:C1970035 ; oboInOwl:hasExactSynonym "PINK1", "pten-induced kinase 1", "pten-induced putative kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65018 ; - skos:exactMatch HGNC_symbol:PINK1 ; + skos:exactMatch UMLS:C1422771, + UMLS:C1853833, + UMLS:C1970035, + HGNC:14581, + HGNC_symbol:PINK1 ; biolink:category biolink:Gene . OMIM:608310 a owl:Class ; @@ -250539,36 +259842,39 @@ OMIM:608310 a owl:Class ; PMID:3463959 ; RO:0002525 CHR:9606chr7q11.21 ; RO:0003303 OMIM:207900 ; - oboInOwl:hasDbXref UMLS:C1412582 ; oboInOwl:hasExactSynonym "ASL", "argininosuccinase", "argininosuccinate lyase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:435 ; - skos:exactMatch HGNC_symbol:ASL ; + skos:exactMatch UMLS:C1412582, + HGNC:746, + HGNC_symbol:ASL ; biolink:category biolink:Gene . OMIM:608311 a owl:Class ; rdfs:label "GRINL1B" ; IAO:0000142 PMID:12063407 ; - oboInOwl:hasDbXref UMLS:C1423675 ; oboInOwl:hasExactSynonym "GRINL1B", "glutamate receptor, ionotropic, n-methyl d-aspartate-like 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339970 ; - skos:exactMatch HGNC_symbol:POLR2MP1 ; + skos:exactMatch UMLS:C1423675, + HGNC:15712, + HGNC_symbol:POLR2MP1 ; biolink:category biolink:Gene . OMIM:608312 a owl:Class ; rdfs:label "TWISTNB" ; IAO:0000142 PMID:12438708, PMID:9792856 ; - oboInOwl:hasDbXref UMLS:C1425253 ; oboInOwl:hasExactSynonym "TWISTNB", "twist neighbor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221830 ; - skos:exactMatch HGNC_symbol:POLR1F ; + skos:exactMatch UMLS:C1425253, + HGNC:18027, + HGNC_symbol:POLR1F ; biolink:category biolink:Gene . OMIM:608313 a owl:Class ; @@ -250597,38 +259903,41 @@ OMIM:608313 a owl:Class ; PMID:7649538 ; RO:0002525 CHR:9606chr6q23.2 ; RO:0003303 OMIM:207800 ; - oboInOwl:hasDbXref UMLS:C1412515 ; oboInOwl:hasExactSynonym "ARG1", "arginase 1", "arginase, liver" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:383 ; - skos:exactMatch HGNC_symbol:ARG1 ; + skos:exactMatch UMLS:C1412515, + HGNC:663, + HGNC_symbol:ARG1 ; biolink:category biolink:Gene . OMIM:608314 a owl:Class ; rdfs:label "SEPT3" ; IAO:0000142 PMID:11158252, PMID:11322766 ; - oboInOwl:hasDbXref UMLS:C1419967 ; oboInOwl:hasExactSynonym "SEPT3", "sep3", "septin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55964 ; - skos:exactMatch HGNC_symbol:SEPTIN3 ; + skos:exactMatch UMLS:C1419967, + HGNC:10750, + HGNC_symbol:SEPTIN3 ; biolink:category biolink:Gene . OMIM:608315 a owl:Class ; rdfs:label "EAF1" ; IAO:0000142 PMID:11418481, PMID:16006523 ; - oboInOwl:hasDbXref UMLS:C1427195 ; oboInOwl:hasExactSynonym "EAF1", "ell-associated factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85403 ; - skos:exactMatch HGNC_symbol:EAF1 ; + skos:exactMatch UMLS:C1427195, + HGNC:20907, + HGNC_symbol:EAF1 ; biolink:category biolink:Gene . OMIM:608319 a owl:Class ; @@ -250641,26 +259950,28 @@ OMIM:608321 a owl:Class ; PMID:14517278, PMID:14556004, PMID:16757566 ; - oboInOwl:hasDbXref UMLS:C1539964 ; oboInOwl:hasExactSynonym "TICAM2", "tir domain-containing adaptor molecule 2", "toll/interleukin-1 receptor domain-containing protein", "trif-related adaptor molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353376 ; - skos:exactMatch HGNC_symbol:TICAM2 ; + skos:exactMatch UMLS:C1539964, + HGNC:21354, + HGNC_symbol:TICAM2 ; biolink:category biolink:Gene . OMIM:608322 a owl:Class ; rdfs:label "KIF21B" ; IAO:0000142 PMID:10225949 ; - oboInOwl:hasDbXref UMLS:C1537485 ; oboInOwl:hasExactSynonym "KIF21B", "kiaa0449", "kinesin family member 21b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23046 ; - skos:exactMatch HGNC_symbol:KIF21B ; + skos:exactMatch UMLS:C1537485, + HGNC:29442, + HGNC_symbol:KIF21B ; biolink:category biolink:Gene . OMIM:608323 a owl:Class ; @@ -250668,24 +259979,25 @@ OMIM:608323 a owl:Class ; IAO:0000142 PMID:14606043, PMID:16429158, PMID:24354524 ; - oboInOwl:hasDbXref UMLS:C1842237 ; oboInOwl:hasExactSynonym "CMTDIC", "charcot-marie-tooth disease, dominant intermediate c", "charcot-marie-tooth neuropathy, dominant intermediate c", "di-cmtc" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1842237 ; biolink:category biolink:Disease . OMIM:608324 a owl:Class ; rdfs:label "SMIM3" ; IAO:0000142 PMID:11288140 ; - oboInOwl:hasDbXref UMLS:C1842236 ; oboInOwl:hasExactSynonym "SMIM3", "ngf-induced differentiation clone 67", "small integral membrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85027 ; - skos:exactMatch HGNC_symbol:SMIM3 ; + skos:exactMatch UMLS:C1842236, + HGNC:30248, + HGNC_symbol:SMIM3 ; biolink:category biolink:Gene . OMIM:608325 a owl:Class ; @@ -250697,44 +260009,47 @@ OMIM:608325 a owl:Class ; PMID:31649809 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:618725 ; - oboInOwl:hasDbXref UMLS:C1538635, - UMLS:C5231476, - UMLS:C5231537, - UMLS:C5231538 ; oboInOwl:hasExactSynonym "PHF21A", "braf35/hdac complex, 80-kd subunit", "kiaa1696", "phd finger protein 21a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51317 ; - skos:exactMatch HGNC_symbol:PHF21A ; + skos:exactMatch UMLS:C1538635, + UMLS:C5231476, + UMLS:C5231537, + UMLS:C5231538, + HGNC:24156, + HGNC_symbol:PHF21A ; biolink:category biolink:Gene . OMIM:608326 a owl:Class ; rdfs:label "STOML1" ; IAO:0000142 PMID:10997330, PMID:9931417 ; - oboInOwl:hasDbXref UMLS:C1422757 ; oboInOwl:hasExactSynonym "STOML1", "slp1", "stomatin-like protein 1", "stomatin-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9399 ; - skos:exactMatch HGNC_symbol:STOML1 ; + skos:exactMatch UMLS:C1422757, + HGNC:14560, + HGNC_symbol:STOML1 ; biolink:category biolink:Gene . OMIM:608327 a owl:Class ; rdfs:label "STOML3" ; IAO:0000142 PMID:12122055, PMID:17167420 ; - oboInOwl:hasDbXref UMLS:C1426231 ; oboInOwl:hasExactSynonym "STOML3", "stomatin-like protein 3", "stomatin-related olfactory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161003 ; - skos:exactMatch HGNC_symbol:STOML3 ; + skos:exactMatch UMLS:C1426231, + HGNC:19420, + HGNC_symbol:STOML3 ; biolink:category biolink:Gene . OMIM:608329 a owl:Class ; @@ -250749,7 +260064,6 @@ OMIM:608329 a owl:Class ; PMID:30532227 ; RO:0002525 CHR:9606chr11q12.2 ; RO:0003303 OMIM:618113 ; - oboInOwl:hasDbXref UMLS:C1412879 ; oboInOwl:hasExactSynonym "MYRF", "chromosome 11 open reading frame 9", "kiaa0954", @@ -250757,7 +260071,9 @@ OMIM:608329 a owl:Class ; "myelin regulatory factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:745 ; - skos:exactMatch HGNC_symbol:MYRF ; + skos:exactMatch UMLS:C1412879, + HGNC:1181, + HGNC_symbol:MYRF ; biolink:category biolink:Gene . OMIM:608330 a owl:Class ; @@ -250765,7 +260081,6 @@ OMIM:608330 a owl:Class ; IAO:0000142 PMID:12960389, PMID:18263876, PMID:27213290 ; - oboInOwl:hasDbXref UMLS:C1538720 ; oboInOwl:hasExactSynonym "PRPF19", "nuclear matrix protein 200", "pre-mrna-processing factor 19", @@ -250774,7 +260089,9 @@ OMIM:608330 a owl:Class ; "psoralen 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27339 ; - skos:exactMatch HGNC_symbol:PRPF19 ; + skos:exactMatch UMLS:C1538720, + HGNC:17896, + HGNC_symbol:PRPF19 ; biolink:category biolink:Gene . OMIM:608331 a owl:Class ; @@ -250785,27 +260102,29 @@ OMIM:608331 a owl:Class ; PMID:19033659 ; RO:0002525 CHR:9606chr5q33.1 ; RO:0003303 OMIM:242600 ; - oboInOwl:hasDbXref UMLS:C1425767 ; oboInOwl:hasExactSynonym "SLC36A2", "proton/amino acid transporter 2", "solute carrier family 36 (proton/amino acid symporter), member 2", "tramdorin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153201 ; - skos:exactMatch HGNC_symbol:SLC36A2 ; + skos:exactMatch UMLS:C1425767, + HGNC:18762, + HGNC_symbol:SLC36A2 ; biolink:category biolink:Gene . OMIM:608332 a owl:Class ; rdfs:label "SLC36A3" ; IAO:0000142 PMID:12809675, PMID:15058382 ; - oboInOwl:hasDbXref UMLS:C1426309 ; oboInOwl:hasExactSynonym "SLC36A3", "proton/amino acid transporter 3", "solute carrier family 36 (proton/amino acid symporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285641 ; - skos:exactMatch HGNC_symbol:SLC36A3 ; + skos:exactMatch UMLS:C1426309, + HGNC:19659, + HGNC_symbol:SLC36A3 ; biolink:category biolink:Gene . OMIM:608333 a owl:Class ; @@ -250813,52 +260132,56 @@ OMIM:608333 a owl:Class ; IAO:0000142 PMID:12595900, PMID:12730241, PMID:19494292 ; - oboInOwl:hasDbXref UMLS:C1426493 ; oboInOwl:hasExactSynonym "DOK4", "docking protein 4", "downstream of tyrosine kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55715 ; - skos:exactMatch HGNC_symbol:DOK4 ; + skos:exactMatch UMLS:C1426493, + HGNC:19868, + HGNC_symbol:DOK4 ; biolink:category biolink:Gene . OMIM:608334 a owl:Class ; rdfs:label "DOK5" ; IAO:0000142 PMID:12595900, PMID:12730241 ; - oboInOwl:hasDbXref UMLS:C1424050 ; oboInOwl:hasExactSynonym "DOK5", "docking protein 5", "downstream of tyrosine kinase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55816 ; - skos:exactMatch HGNC_symbol:DOK5 ; + skos:exactMatch UMLS:C1424050, + HGNC:16173, + HGNC_symbol:DOK5 ; biolink:category biolink:Gene . OMIM:608335 a owl:Class ; rdfs:label "PLEKHO1" ; IAO:0000142 PMID:10799509 ; - oboInOwl:hasDbXref UMLS:C1826600 ; oboInOwl:hasExactSynonym "PLEKHO1", "casein kinase ii-interacting protein 1", "ck2-interacting protein 1", "pleckstrin homology domain-containing protein, family o, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51177 ; - skos:exactMatch HGNC_symbol:PLEKHO1 ; + skos:exactMatch UMLS:C1826600, + HGNC:24310, + HGNC_symbol:PLEKHO1 ; biolink:category biolink:Gene . OMIM:608336 a owl:Class ; rdfs:label "TPRA1" ; IAO:0000142 PMID:10342878 ; - oboInOwl:hasDbXref UMLS:C1539611 ; oboInOwl:hasExactSynonym "TPRA1", "g protein-coupled receptor 175", "transmembrane domain protein regulated 1n adipocytes, 40-kd", "transmembrane protein, adipocyte associated 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131601 ; - skos:exactMatch HGNC_symbol:TPRA1 ; + skos:exactMatch UMLS:C1539611, + HGNC:30413, + HGNC_symbol:TPRA1 ; biolink:category biolink:Gene . OMIM:608337 a owl:Class ; @@ -250868,20 +260191,20 @@ OMIM:608337 a owl:Class ; PMID:19414743, PMID:20725033, PMID:22367539 ; - oboInOwl:hasDbXref UMLS:C1427896 ; oboInOwl:hasExactSynonym "OTUB1", "otu domain-containing ubal-binding protein 1", "otu domain-containing ubiquitin aldehyde-binding protein 1", "otubain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55611 ; - skos:exactMatch HGNC_symbol:OTUB1 ; + skos:exactMatch UMLS:C1427896, + HGNC:23077, + HGNC_symbol:OTUB1 ; biolink:category biolink:Gene . OMIM:608338 a owl:Class ; rdfs:label "OTUB2" ; IAO:0000142 PMID:12704427 ; - oboInOwl:hasDbXref UMLS:C1538554 ; oboInOwl:hasExactSynonym "OTUB2", "chromosome 14 open reading frame 137", "otu domain-containing ubal-binding protein 2", @@ -250889,7 +260212,9 @@ OMIM:608338 a owl:Class ; "otubain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:78990 ; - skos:exactMatch HGNC_symbol:OTUB2 ; + skos:exactMatch UMLS:C1538554, + HGNC:20351, + HGNC_symbol:OTUB2 ; biolink:category biolink:Gene . OMIM:608339 a owl:Class ; @@ -250897,7 +260222,6 @@ OMIM:608339 a owl:Class ; IAO:0000142 PMID:10194441, PMID:15690082, PMID:8824310 ; - oboInOwl:hasDbXref UMLS:C1420508 ; oboInOwl:hasExactSynonym "STXBP3", "munc18-3", "munc18c", @@ -250906,7 +260230,9 @@ OMIM:608339 a owl:Class ; "unc18, c. elegans, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6814 ; - skos:exactMatch HGNC_symbol:STXBP3 ; + skos:exactMatch UMLS:C1420508, + HGNC:11446, + HGNC_symbol:STXBP3 ; biolink:category biolink:Gene . OMIM:608340 a owl:Class ; @@ -250916,61 +260242,65 @@ OMIM:608340 a owl:Class ; PMID:12566285, PMID:17039978, PMID:21365284 ; - oboInOwl:hasDbXref UMLS:C1842197 ; oboInOwl:hasExactSynonym "CMTRIA", "charcot-marie-tooth disease, recessive intermediate a", "charcot-marie-tooth neuropathy, recessive intermediate a", "ri-cmta" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1842197 ; biolink:category biolink:Disease . OMIM:608341 a owl:Class ; rdfs:label "CYB5R1" ; IAO:0000142 PMID:10611283 ; - oboInOwl:hasDbXref UMLS:C1824841 ; oboInOwl:hasExactSynonym "CYB5R1", "b5r.1", "cytochrome b5 reductase 1", "nad(p)h:quinone oxidoreductase iia 3, polypeptide a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51706 ; - skos:exactMatch HGNC_symbol:CYB5R1 ; + skos:exactMatch UMLS:C1824841, + HGNC:13397, + HGNC_symbol:CYB5R1 ; biolink:category biolink:Gene . OMIM:608342 a owl:Class ; rdfs:label "CYB5R2" ; IAO:0000142 PMID:10611283 ; - oboInOwl:hasDbXref UMLS:C1824842 ; oboInOwl:hasExactSynonym "CYB5R2", "b5r.2", "cytochrome b5 reductase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51700 ; - skos:exactMatch HGNC_symbol:CYB5R2 ; + skos:exactMatch UMLS:C1824842, + HGNC:24376, + HGNC_symbol:CYB5R2 ; biolink:category biolink:Gene . OMIM:608343 a owl:Class ; rdfs:label "CYB5R4" ; IAO:0000142 PMID:10611283, PMID:15247412 ; - oboInOwl:hasDbXref UMLS:C1824844 ; oboInOwl:hasExactSynonym "CYB5R4", "cytochrome b5 reductase 4", "nadph cytochrome b5 oxidoreductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51167 ; - skos:exactMatch HGNC_symbol:CYB5R4 ; + skos:exactMatch UMLS:C1824844, + HGNC:20147, + HGNC_symbol:CYB5R4 ; biolink:category biolink:Gene . OMIM:608344 a owl:Class ; rdfs:label "HSPB9" ; IAO:0000142 PMID:11470154 ; - oboInOwl:hasDbXref UMLS:C1537389 ; oboInOwl:hasExactSynonym "HSPB9", "heat-shock 27-kd protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94086 ; - skos:exactMatch HGNC_symbol:HSPB9 ; + skos:exactMatch UMLS:C1537389, + HGNC:30589, + HGNC_symbol:HSPB9 ; biolink:category biolink:Gene . OMIM:608346 a owl:Class ; @@ -250987,7 +260317,6 @@ OMIM:608347 a owl:Class ; PMID:3994659 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:260800 ; - oboInOwl:hasDbXref UMLS:C1425932 ; oboInOwl:hasExactSynonym "DCXR", "carbonyl reductase 2", "diacetyl reductase", @@ -250997,7 +260326,9 @@ OMIM:608347 a owl:Class ; "p34h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51181 ; - skos:exactMatch HGNC_symbol:DCXR ; + skos:exactMatch UMLS:C1425932, + HGNC:18985, + HGNC_symbol:DCXR ; biolink:category biolink:Gene . OMIM:608348 a owl:Class ; @@ -251022,27 +260353,29 @@ OMIM:608348 a owl:Class ; PMID:9582350 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:248600 ; - oboInOwl:hasDbXref UMLS:C1412759 ; oboInOwl:hasExactSynonym "BCKDHA", "bckd, e1-alpha subunit", "branched-chain keto acid dehydrogenase e1, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:593 ; - skos:exactMatch HGNC_symbol:BCKDHA ; + skos:exactMatch UMLS:C1412759, + HGNC:986, + HGNC_symbol:BCKDHA ; biolink:category biolink:Gene . OMIM:608349 a owl:Class ; rdfs:label "HSH2D" ; IAO:0000142 PMID:11700021, PMID:12960172 ; - oboInOwl:hasDbXref UMLS:C1428427 ; oboInOwl:hasExactSynonym "HSH2D", "alx", "hematopoietic sh2 domain-containing protein", "hsh2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84941 ; - skos:exactMatch HGNC_symbol:HSH2D ; + skos:exactMatch UMLS:C1428427, + HGNC:24920, + HGNC_symbol:HSH2D ; biolink:category biolink:Gene . OMIM:608350 a owl:Class ; @@ -251050,13 +260383,14 @@ OMIM:608350 a owl:Class ; IAO:0000142 PMID:11418125, PMID:11594763, PMID:16314436 ; - oboInOwl:hasDbXref UMLS:C1825049 ; oboInOwl:hasExactSynonym "EMCN", "endomucin", "endomucin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51705 ; - skos:exactMatch HGNC_symbol:EMCN ; + skos:exactMatch UMLS:C1825049, + HGNC:16041, + HGNC_symbol:EMCN ; biolink:category biolink:Gene . OMIM:608351 a owl:Class ; @@ -251064,27 +260398,29 @@ OMIM:608351 a owl:Class ; IAO:0000142 PMID:12207903, PMID:12851705, PMID:30220083 ; - oboInOwl:hasDbXref UMLS:C1424478 ; oboInOwl:hasExactSynonym "IGSF11", "brain- and testis-specific immunoglobulin superfamily protein", "immunoglobulin superfamily, member 11", "v-set and immunoglobulin domains-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152404 ; - skos:exactMatch HGNC_symbol:IGSF11 ; + skos:exactMatch UMLS:C1424478, + HGNC:16669, + HGNC_symbol:IGSF11 ; biolink:category biolink:Gene . OMIM:608352 a owl:Class ; rdfs:label "ACRBP" ; IAO:0000142 PMID:11248070 ; - oboInOwl:hasDbXref UMLS:C1332008 ; oboInOwl:hasExactSynonym "ACRBP", "acrosin-binding protein", "oy-tes-1", "proacrosin-binding protein sp32 precursor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84519 ; - skos:exactMatch HGNC_symbol:ACRBP ; + skos:exactMatch UMLS:C1332008, + HGNC:17195, + HGNC_symbol:ACRBP ; biolink:category biolink:Gene . OMIM:608353 a owl:Class ; @@ -251094,7 +260430,6 @@ OMIM:608353 a owl:Class ; PMID:14738999, PMID:16916800, PMID:17900240 ; - oboInOwl:hasDbXref UMLS:C1826409 ; oboInOwl:hasExactSynonym "AZIN2", "antizyme inhibitor 2", "kiaa1945", @@ -251102,7 +260437,9 @@ OMIM:608353 a owl:Class ; "ornithine decarboxylase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113451 ; - skos:exactMatch HGNC_symbol:AZIN2 ; + skos:exactMatch UMLS:C1826409, + HGNC:29957, + HGNC_symbol:AZIN2 ; biolink:category biolink:Gene . OMIM:608355 a owl:Class ; @@ -251112,26 +260449,28 @@ OMIM:608355 a owl:Class ; OMIM:608356 a owl:Class ; rdfs:label "ODF3" ; IAO:0000142 PMID:11870087 ; - oboInOwl:hasDbXref UMLS:C1426520 ; oboInOwl:hasExactSynonym "ODF3", "outer dense fiber of sperm tails 3", "shippo1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113746 ; - skos:exactMatch HGNC_symbol:ODF3 ; + skos:exactMatch UMLS:C1426520, + HGNC:19905, + HGNC_symbol:ODF3 ; biolink:category biolink:Gene . OMIM:608357 a owl:Class ; rdfs:label "SULT1C4" ; IAO:0000142 PMID:10783263, PMID:9852044 ; - oboInOwl:hasDbXref UMLS:C1420518 ; oboInOwl:hasExactSynonym "SULT1C4", "sulfotransferase family 1c, member 2, formerly", "sulfotransferase family 1c, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27233 ; - skos:exactMatch HGNC_symbol:SULT1C4 ; + skos:exactMatch UMLS:C1420518, + HGNC:11457, + HGNC_symbol:SULT1C4 ; biolink:category biolink:Gene . OMIM:608359 a owl:Class ; @@ -251140,13 +260479,14 @@ OMIM:608359 a owl:Class ; PMID:12039030, PMID:14676822, PMID:9032093 ; - oboInOwl:hasDbXref UMLS:C1423041 ; oboInOwl:hasExactSynonym "SULT4A1", "brain sulfotransferase-like protein 1", "sulfotransferase family 4a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25830 ; - skos:exactMatch HGNC_symbol:SULT4A1 ; + skos:exactMatch UMLS:C1423041, + HGNC:14903, + HGNC_symbol:SULT4A1 ; biolink:category biolink:Gene . OMIM:608360 a owl:Class ; @@ -251163,8 +260503,6 @@ OMIM:608360 a owl:Class ; PMID:29880644 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:613506 ; - oboInOwl:hasDbXref UMLS:C1825876, - UMLS:C4225518 ; oboInOwl:hasExactSynonym "LRRC8A", "kiaa1437", "leucine-rich repeat-containing protein 8a", @@ -251172,7 +260510,10 @@ OMIM:608360 a owl:Class ; "swell1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56262 ; - skos:exactMatch HGNC_symbol:LRRC8A ; + skos:exactMatch UMLS:C1825876, + UMLS:C4225518, + HGNC:19027, + HGNC_symbol:LRRC8A ; biolink:category biolink:Gene . OMIM:608361 a owl:Class ; @@ -251180,9 +260521,9 @@ OMIM:608361 a owl:Class ; IAO:0000142 PMID:12205105, PMID:16080123, PMID:1978986 ; - oboInOwl:hasDbXref UMLS:C1842149 ; oboInOwl:hasExactSynonym "SEDK", "spondyloepiphyseal dysplasia, kimberley iia" ; + skos:exactMatch UMLS:C1842149 ; biolink:category biolink:Disease . OMIM:608362 a owl:Class ; @@ -251190,13 +260531,14 @@ OMIM:608362 a owl:Class ; IAO:0000142 PMID:12676564, PMID:9603203, PMID:9788875 ; - oboInOwl:hasDbXref UMLS:C1423838 ; oboInOwl:hasExactSynonym "STMN3", "scg10-like protein", "stathmin-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50861 ; - skos:exactMatch HGNC_symbol:STMN3 ; + skos:exactMatch UMLS:C1423838, + HGNC:15926, + HGNC_symbol:STMN3 ; biolink:category biolink:Gene . OMIM:608363 a owl:Class ; @@ -251215,9 +260557,9 @@ OMIM:608363 a owl:Class ; PMID:21792059, PMID:21844811 ; RO:0002525 CHR:9606chr22q11.2 ; - oboInOwl:hasDbXref UMLS:C2675369 ; oboInOwl:hasExactSynonym "chromosome 22q11.2 duplication syndrome", "chromosome 22q11.2 microduplication syndrome" ; + skos:exactMatch UMLS:C2675369 ; biolink:category biolink:Disease . OMIM:608364 a owl:Class ; @@ -251228,25 +260570,27 @@ OMIM:608364 a owl:Class ; PMID:29880681 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:618079 ; - oboInOwl:hasDbXref UMLS:C1825817 ; oboInOwl:hasExactSynonym "LIMA1", "epithelial protein lost 1n neoplasm", "lim domain and actin-binding protein 1", "sterol regulatory element-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51474 ; - skos:exactMatch HGNC_symbol:LIMA1 ; + skos:exactMatch UMLS:C1825817, + HGNC:24636, + HGNC_symbol:LIMA1 ; biolink:category biolink:Gene . OMIM:608365 a owl:Class ; rdfs:label "TCP10L" ; IAO:0000142 PMID:14586771 ; - oboInOwl:hasDbXref UMLS:C1420657 ; oboInOwl:hasExactSynonym "TCP10L", "t-complex protein 10-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140290 ; - skos:exactMatch HGNC_symbol:TCP10L ; + skos:exactMatch UMLS:C1420657, + HGNC:11657, + HGNC_symbol:TCP10L ; biolink:category biolink:Gene . OMIM:608366 a owl:Class ; @@ -251254,25 +260598,27 @@ OMIM:608366 a owl:Class ; IAO:0000142 PMID:10574462, PMID:12471561, PMID:14577002 ; - oboInOwl:hasDbXref UMLS:C1537465 ; oboInOwl:hasExactSynonym "CEMIP", "cell migration-inducing hyaluronidase 1", "kiaa1199" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57214 ; - skos:exactMatch HGNC_symbol:CEMIP ; + skos:exactMatch UMLS:C1537465, + HGNC:29213, + HGNC_symbol:CEMIP ; biolink:category biolink:Gene . OMIM:608368 a owl:Class ; rdfs:label "RAD9B" ; IAO:0000142 PMID:14611806 ; - oboInOwl:hasDbXref UMLS:C1427703 ; oboInOwl:hasExactSynonym "RAD9B", "rad9 checkpoint clamp component B", "rad9, s. pombe, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144715 ; - skos:exactMatch HGNC_symbol:RAD9B ; + skos:exactMatch UMLS:C1427703, + HGNC:21700, + HGNC_symbol:RAD9B ; biolink:category biolink:Gene . OMIM:608369 a owl:Class ; @@ -251281,14 +260627,15 @@ OMIM:608369 a owl:Class ; PMID:12407114, PMID:20977886, PMID:22186971 ; - oboInOwl:hasDbXref UMLS:C1428014 ; oboInOwl:hasExactSynonym "GALNT13", "galnac transferase 13", "kiaa1918", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114805 ; - skos:exactMatch HGNC_symbol:GALNT13 ; + skos:exactMatch UMLS:C1428014, + HGNC:23242, + HGNC_symbol:GALNT13 ; biolink:category biolink:Gene . OMIM:608370 a owl:Class ; @@ -251298,25 +260645,27 @@ OMIM:608370 a owl:Class ; PMID:31972369 ; RO:0002525 CHR:9606chr4q21.22 ; RO:0003303 OMIM:619086 ; - oboInOwl:hasDbXref UMLS:C1822652, - UMLS:C5436772 ; oboInOwl:hasExactSynonym "SCD5", "acyl-coa desaturase 4", "stearoyl-coa desaturase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79966 ; - skos:exactMatch HGNC_symbol:SCD5 ; + skos:exactMatch UMLS:C1822652, + UMLS:C5436772, + HGNC:21088, + HGNC_symbol:SCD5 ; biolink:category biolink:Gene . OMIM:608373 a owl:Class ; rdfs:label "SYNGR4" ; IAO:0000142 PMID:10708517 ; - oboInOwl:hasDbXref UMLS:C1420551 ; oboInOwl:hasExactSynonym "SYNGR4", "synaptogyrin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23546 ; - skos:exactMatch HGNC_symbol:SYNGR4 ; + skos:exactMatch UMLS:C1420551, + HGNC:11502, + HGNC_symbol:SYNGR4 ; biolink:category biolink:Gene . OMIM:608374 a owl:Class ; @@ -251342,13 +260691,14 @@ OMIM:608374 a owl:Class ; PMID:26633544 ; RO:0002525 CHR:9606chr1q21.1 ; RO:0003303 OMIM:602390 ; - oboInOwl:hasDbXref UMLS:C1415529 ; oboInOwl:hasExactSynonym "HJV", "hemojuvelin", "hfe2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148738 ; - skos:exactMatch HGNC_symbol:HJV ; + skos:exactMatch UMLS:C1415529, + HGNC:4887, + HGNC_symbol:HJV ; biolink:category biolink:Gene . OMIM:608375 a owl:Class ; @@ -251365,7 +260715,6 @@ OMIM:608375 a owl:Class ; PMID:9455484 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:615528 ; - oboInOwl:hasDbXref UMLS:C1423510 ; oboInOwl:hasExactSynonym "DNAJC6", "auxilin, bovine, homolog of", "djc6", @@ -251373,7 +260722,9 @@ OMIM:608375 a owl:Class ; "kiaa0473" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9829 ; - skos:exactMatch HGNC_symbol:DNAJC6 ; + skos:exactMatch UMLS:C1423510, + HGNC:15469, + HGNC_symbol:DNAJC6 ; biolink:category biolink:Gene . OMIM:608376 a owl:Class ; @@ -251381,26 +260732,28 @@ OMIM:608376 a owl:Class ; IAO:0000142 PMID:11147971, PMID:21673190, PMID:24732912 ; - oboInOwl:hasDbXref UMLS:C1423030 ; oboInOwl:hasExactSynonym "DNAJB12", "dj10", "dnaj/hsp40 homolog, subfamily b, member 12", "flj20027" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54788 ; - skos:exactMatch HGNC_symbol:DNAJB12 ; + skos:exactMatch UMLS:C1423030, + HGNC:14891, + HGNC_symbol:DNAJB12 ; biolink:category biolink:Gene . OMIM:608377 a owl:Class ; rdfs:label "ARFGAP1" ; IAO:0000142 PMID:11210549, PMID:14654841 ; - oboInOwl:hasDbXref UMLS:C1423774 ; oboInOwl:hasExactSynonym "ARFGAP1", "adp-ribosylation factor gtpase-activating protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55738 ; - skos:exactMatch HGNC_symbol:ARFGAP1 ; + skos:exactMatch UMLS:C1423774, + HGNC:15852, + HGNC_symbol:ARFGAP1 ; biolink:category biolink:Gene . OMIM:608378 a owl:Class ; @@ -251412,15 +260765,16 @@ OMIM:608378 a owl:Class ; PMID:9610721 ; RO:0002525 CHR:9606chr14q21.3 ; RO:0003303 OMIM:619099 ; - oboInOwl:hasDbXref UMLS:C1419896, - UMLS:C5436813 ; oboInOwl:hasExactSynonym "NEMF", "nuclear export mediator factor", "ny-co-1", "serologically defined colon cancer antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9147 ; - skos:exactMatch HGNC_symbol:NEMF ; + skos:exactMatch UMLS:C1419896, + UMLS:C5436813, + HGNC:10663, + HGNC_symbol:NEMF ; biolink:category biolink:Gene . OMIM:608379 a owl:Class ; @@ -251429,7 +260783,6 @@ OMIM:608379 a owl:Class ; PMID:18794339, PMID:20002784, PMID:9473515 ; - oboInOwl:hasDbXref UMLS:C1332705 ; oboInOwl:hasExactSynonym "CCRL2", "atypical chemokine receptor 5", "chemokine, cc motif, receptor-like protein 2", @@ -251437,7 +260790,9 @@ OMIM:608379 a owl:Class ; "hcr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9034 ; - skos:exactMatch HGNC_symbol:CCRL2 ; + skos:exactMatch UMLS:C1332705, + HGNC:1612, + HGNC_symbol:CCRL2 ; biolink:category biolink:Gene . OMIM:608381 a owl:Class ; @@ -251448,12 +260803,13 @@ OMIM:608381 a owl:Class ; PMID:9507394 ; RO:0002525 CHR:9606chr2q31.3 ; RO:0003303 OMIM:608380 ; - oboInOwl:hasDbXref UMLS:C1538439 ; oboInOwl:hasExactSynonym "CERKL", "ceramide kinase-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375298 ; - skos:exactMatch HGNC_symbol:CERKL ; + skos:exactMatch UMLS:C1538439, + HGNC:21699, + HGNC_symbol:CERKL ; biolink:category biolink:Gene . OMIM:608382 a owl:Class ; @@ -251471,14 +260827,15 @@ OMIM:608382 a owl:Class ; PMID:26055714, PMID:30770860, PMID:9683573 ; - oboInOwl:hasDbXref UMLS:C1420733, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "DNAJA3", "dnaj/hsp40 homolog, subfamily a, member 3", "tid56, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9093 ; - skos:exactMatch HGNC_symbol:DNAJA3 ; + skos:exactMatch UMLS:C1420733, + UMLS:C2986382, + HGNC:11808, + HGNC_symbol:DNAJA3 ; biolink:category biolink:Gene . OMIM:608383 a owl:Class ; @@ -251489,7 +260846,6 @@ OMIM:608383 a owl:Class ; PMID:12838519 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:619435 ; - oboInOwl:hasDbXref UMLS:C1427047 ; oboInOwl:hasExactSynonym "DPYSL5", "collapsin response mediator protein 5", "crmp3-associated molecule", @@ -251497,57 +260853,63 @@ OMIM:608383 a owl:Class ; "ulip6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56896 ; - skos:exactMatch HGNC_symbol:DPYSL5 ; + skos:exactMatch UMLS:C1427047, + HGNC:20637, + HGNC_symbol:DPYSL5 ; biolink:category biolink:Gene . OMIM:608384 a owl:Class ; rdfs:label "GSDMC" ; IAO:0000142 PMID:11223543, PMID:17350798 ; - oboInOwl:hasDbXref UMLS:C1417197 ; oboInOwl:hasExactSynonym "GSDMC", "gasdermin c", "melanoma-derived leucine zipper-containing extranuclear factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56169 ; - skos:exactMatch HGNC_symbol:GSDMC ; + skos:exactMatch UMLS:C1417197, + HGNC:7151, + HGNC_symbol:GSDMC ; biolink:category biolink:Gene . OMIM:608385 a owl:Class ; rdfs:label "TNS4" ; IAO:0000142 PMID:12154022, PMID:17643115 ; - oboInOwl:hasDbXref UMLS:C1823462 ; oboInOwl:hasExactSynonym "TNS4", "c-terminal tensin-like protein", "tensin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84951 ; - skos:exactMatch HGNC_symbol:TNS4 ; + skos:exactMatch UMLS:C1823462, + HGNC:24352, + HGNC_symbol:TNS4 ; biolink:category biolink:Gene . OMIM:608386 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:11861531 ; - oboInOwl:hasDbXref UMLS:C1842125 ; oboInOwl:hasExactSynonym "tip39", "tuberoinfundibular peptide of 39 amino acids" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113091 ; - skos:exactMatch HGNC_symbol:PTH2 ; + skos:exactMatch UMLS:C1842125, + HGNC:30828, + HGNC_symbol:PTH2 ; biolink:category biolink:Gene . OMIM:608387 a owl:Class ; rdfs:label "ZNF213" ; IAO:0000142 PMID:10023065, PMID:9653642 ; - oboInOwl:hasDbXref UMLS:C1421701 ; oboInOwl:hasExactSynonym "ZNF213", "cr53", "zinc finger protein 213" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7760 ; - skos:exactMatch HGNC_symbol:ZNF213 ; + skos:exactMatch UMLS:C1421701, + HGNC:13005, + HGNC_symbol:ZNF213 ; biolink:category biolink:Gene . OMIM:608388 a owl:Class ; @@ -251556,13 +260918,14 @@ OMIM:608388 a owl:Class ; PMID:14633973, PMID:17344420, PMID:21525932 ; - oboInOwl:hasDbXref UMLS:C1825024 ; oboInOwl:hasExactSynonym "ECSIT", "evolutionarily-conserved signaling intermediate 1n toll pathway", "sitpec" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51295 ; - skos:exactMatch HGNC_symbol:ECSIT ; + skos:exactMatch UMLS:C1825024, + HGNC:29548, + HGNC_symbol:ECSIT ; biolink:category biolink:Gene . OMIM:608389 a owl:Class ; @@ -251571,11 +260934,11 @@ OMIM:608389 a owl:Class ; PMID:12843324, PMID:15141091, PMID:17637804 ; - oboInOwl:hasDbXref UMLS:C1842124, - ORPHA:52429 ; oboInOwl:hasExactSynonym "BOS3", "bo syndrome 3", "branchiootic syndrome 3" ; + skos:exactMatch UMLS:C1842124, + ORPHA:52429 ; biolink:category biolink:Disease . OMIM:608390 a owl:Class ; @@ -251593,8 +260956,6 @@ OMIM:608390 a owl:Class ; PMID:8308722, PMID:9131654, PMID:9771789 ; - oboInOwl:hasDbXref UMLS:C2931826, - UMLS:C3149517 ; oboInOwl:hasExactSynonym "laryngospasm, severe neonatal episodic", "myotonia congenita, acetazolamide-responsive", "myotonia congenita, atypical", @@ -251602,6 +260963,8 @@ OMIM:608390 a owl:Class ; "myotonia permanens", "myotonia, potassium-aggravated", "sodium channel muscle disease" ; + skos:exactMatch UMLS:C2931826, + UMLS:C3149517 ; biolink:category biolink:Disease . OMIM:608395 a owl:Class ; @@ -251617,13 +260980,14 @@ OMIM:608396 a owl:Class ; PMID:19619532 ; RO:0002525 CHR:9606chr3q24 ; RO:0003303 OMIM:613410 ; - oboInOwl:hasDbXref UMLS:C1427060 ; oboInOwl:hasExactSynonym "SLC9A9", "sodium/hydrogen exchanger 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285195 ; - skos:exactMatch HGNC_symbol:SLC9A9 ; + skos:exactMatch UMLS:C1427060, + HGNC:20653, + HGNC_symbol:SLC9A9 ; biolink:category biolink:Gene . OMIM:608397 a owl:Class ; @@ -251634,26 +260998,28 @@ OMIM:608397 a owl:Class ; PMID:12906867, PMID:12943675, PMID:16547280 ; - oboInOwl:hasDbXref UMLS:C1422360 ; oboInOwl:hasExactSynonym "CSMD1", "cub and sushi multiple domains 1", "kiaa1890" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64478 ; - skos:exactMatch HGNC_symbol:CSMD1 ; + skos:exactMatch UMLS:C1422360, + HGNC:14026, + HGNC_symbol:CSMD1 ; biolink:category biolink:Gene . OMIM:608398 a owl:Class ; rdfs:label "CSMD2" ; IAO:0000142 PMID:11572484, PMID:12906867 ; - oboInOwl:hasDbXref UMLS:C1426144 ; oboInOwl:hasExactSynonym "CSMD2", "cub and sushi multiple domains 2", "kiaa1884" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114784 ; - skos:exactMatch HGNC_symbol:CSMD2 ; + skos:exactMatch UMLS:C1426144, + HGNC:19290, + HGNC_symbol:CSMD2 ; biolink:category biolink:Gene . OMIM:608399 a owl:Class ; @@ -251661,13 +261027,14 @@ OMIM:608399 a owl:Class ; IAO:0000142 PMID:11572484, PMID:12906867, PMID:12943675 ; - oboInOwl:hasDbXref UMLS:C1426145 ; oboInOwl:hasExactSynonym "CSMD3", "cub and sushi multiple domains 3", "kiaa1894" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114788 ; - skos:exactMatch HGNC_symbol:CSMD3 ; + skos:exactMatch UMLS:C1426145, + HGNC:19291, + HGNC_symbol:CSMD3 ; biolink:category biolink:Gene . OMIM:608400 a owl:Class ; @@ -251704,47 +261071,51 @@ OMIM:608400 a owl:Class ; PMID:9624053 ; RO:0002525 CHR:9606chr1q41 ; RO:0003303 OMIM:276901 ; - oboInOwl:hasDbXref UMLS:C1421381 ; oboInOwl:hasExactSynonym "USH2A", "ush2", "ush2a gene", "usherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7399 ; - skos:exactMatch HGNC_symbol:USH2A ; + skos:exactMatch UMLS:C1421381, + HGNC:12601, + HGNC_symbol:USH2A ; biolink:category biolink:Gene . OMIM:608401 a owl:Class ; rdfs:label "MS4A4E" ; IAO:0000142 PMID:11486273 ; - oboInOwl:hasDbXref UMLS:C1422542 ; oboInOwl:hasExactSynonym "MS4A4E", "membrane-spanning 4-domains, subfamily a, member 4e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643680 ; - skos:exactMatch HGNC_symbol:MS4A4E ; + skos:exactMatch UMLS:C1422542, + HGNC:14284, + HGNC_symbol:MS4A4E ; biolink:category biolink:Gene . OMIM:608402 a owl:Class ; rdfs:label "MS4A6E" ; IAO:0000142 PMID:11486273 ; - oboInOwl:hasDbXref UMLS:C1422543 ; oboInOwl:hasExactSynonym "MS4A6E", "membrane-spanning 4-domains, subfamily a, member 6e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245802 ; - skos:exactMatch HGNC_symbol:MS4A6E ; + skos:exactMatch UMLS:C1422543, + HGNC:14285, + HGNC_symbol:MS4A6E ; biolink:category biolink:Gene . OMIM:608403 a owl:Class ; rdfs:label "MS4A10" ; IAO:0000142 PMID:11486273 ; - oboInOwl:hasDbXref UMLS:C1421953 ; oboInOwl:hasExactSynonym "MS4A10", "membrane-spanning 4-domains, subfamily a, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:341116 ; - skos:exactMatch HGNC_symbol:MS4A10 ; + skos:exactMatch UMLS:C1421953, + HGNC:13368, + HGNC_symbol:MS4A10 ; biolink:category biolink:Gene . OMIM:608404 a owl:Class ; @@ -251765,46 +261136,48 @@ OMIM:608404 a owl:Class ; PMID:7686693, PMID:8623134, PMID:9040027 ; - oboInOwl:hasDbXref UMLS:C1842090 ; oboInOwl:hasExactSynonym "bleeding disorder, platelet-type, 10", "cd36 deficiency", "platelet glycoprotein 4 deficiency" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C1842090 ; biolink:category biolink:Disease . OMIM:608405 a owl:Class ; rdfs:label "ACCS" ; IAO:0000142 PMID:10767549, PMID:11470512 ; - oboInOwl:hasDbXref UMLS:C1842089 ; oboInOwl:hasExactSynonym "1-aminocyclopropane-1-carboxylate synthase", "ACCS", "acc synthase", "phacs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84680 ; - skos:exactMatch HGNC_symbol:ACCS ; + skos:exactMatch UMLS:C1842089, + HGNC:23989, + HGNC_symbol:ACCS ; biolink:category biolink:Gene . OMIM:608406 a owl:Class ; rdfs:label "vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" ; IAO:0000142 PMID:14556254 ; - oboInOwl:hasDbXref UMLS:C1842082 ; - oboInOwl:hasExactSynonym "vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" . + oboInOwl:hasExactSynonym "vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" ; + skos:exactMatch UMLS:C1842082 . OMIM:608407 a owl:Class ; rdfs:label "DPYSL4" ; IAO:0000142 PMID:10594648, PMID:10721710, PMID:9652388 ; - oboInOwl:hasDbXref UMLS:C1414147 ; oboInOwl:hasExactSynonym "DPYSL4", "collapsin response mediator protein 3", "dihydropyrimidinase-like 4", "unc33-like phosphoprotein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10570 ; - skos:exactMatch HGNC_symbol:DPYSL4 ; + skos:exactMatch UMLS:C1414147, + HGNC:3016, + HGNC_symbol:DPYSL4 ; biolink:category biolink:Gene . OMIM:608408 a owl:Class ; @@ -251813,47 +261186,49 @@ OMIM:608408 a owl:Class ; PMID:19578360, PMID:22722204, PMID:30487604 ; - oboInOwl:hasDbXref UMLS:C1426084 ; oboInOwl:hasExactSynonym "DPPA3", "developmental pluripotency-associated gene 3", "primordial germ cell protein 7", "stella, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:359787 ; - skos:exactMatch HGNC_symbol:DPPA3 ; + skos:exactMatch UMLS:C1426084, + HGNC:19199, + HGNC_symbol:DPPA3 ; biolink:category biolink:Gene . OMIM:608409 a owl:Class ; rdfs:label "C15ORF48" ; IAO:0000142 PMID:12209954 ; - oboInOwl:hasDbXref UMLS:C1824410 ; oboInOwl:hasExactSynonym "C15ORF48", "chromosome 15 open reading frame 48", "normal mucosa of esophagus-specific gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84419 ; - skos:exactMatch HGNC_symbol:C15orf48 ; + skos:exactMatch UMLS:C1824410, + HGNC:29898, + HGNC_symbol:C15orf48 ; biolink:category biolink:Gene . OMIM:608411 a owl:Class ; rdfs:label "XPO6" ; IAO:0000142 PMID:14592989, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1426370 ; oboInOwl:hasExactSynonym "XPO6", "exp6", "exportin 6", "kiaa0370" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23214 ; - skos:exactMatch HGNC_symbol:XPO6 ; + skos:exactMatch UMLS:C1426370, + HGNC:19733, + HGNC_symbol:XPO6 ; biolink:category biolink:Gene . OMIM:608412 a owl:Class ; rdfs:label "GPBP1" ; IAO:0000142 PMID:12842993, PMID:14612417 ; - oboInOwl:hasDbXref UMLS:C1825395 ; oboInOwl:hasExactSynonym "GPBP1", "gc-rich promoter-binding protein 1", "gpbp", @@ -251861,7 +261236,9 @@ OMIM:608412 a owl:Class ; "vasculin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65056 ; - skos:exactMatch HGNC_symbol:GPBP1 ; + skos:exactMatch UMLS:C1825395, + HGNC:29520, + HGNC_symbol:GPBP1 ; biolink:category biolink:Gene . OMIM:608413 a owl:Class ; @@ -251872,7 +261249,6 @@ OMIM:608413 a owl:Class ; PMID:12011095, PMID:12902990, PMID:23389450 ; - oboInOwl:hasDbXref UMLS:C1825027 ; oboInOwl:hasExactSynonym "UBR5", "e3 ubiquitin protein ligase, hect domain-containing, 1", "hyperplastic discs, drosophila, homolog of", @@ -251881,7 +261257,9 @@ OMIM:608413 a owl:Class ; "ubiquitin-protein ligase e3 component n-recognin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51366 ; - skos:exactMatch HGNC_symbol:UBR5 ; + skos:exactMatch UMLS:C1825027, + HGNC:16806, + HGNC_symbol:UBR5 ; biolink:category biolink:Gene . OMIM:608414 a owl:Class ; @@ -251896,14 +261274,15 @@ OMIM:608414 a owl:Class ; PMID:20591883 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:610725 ; - oboInOwl:hasDbXref UMLS:C1424797 ; oboInOwl:hasExactSynonym "PLCE1", "kiaa1516", "phospholipase c, epsilon-1", "plce" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51196 ; - skos:exactMatch HGNC_symbol:PLCE1 ; + skos:exactMatch UMLS:C1424797, + HGNC:17175, + HGNC_symbol:PLCE1 ; biolink:category biolink:Gene . OMIM:608416 a owl:Class ; @@ -251915,12 +261294,13 @@ OMIM:608416 a owl:Class ; PMID:26437029 ; RO:0002525 CHR:9606chr10q26.2 ; RO:0003303 OMIM:616749 ; - oboInOwl:hasDbXref UMLS:C1422589 ; oboInOwl:hasExactSynonym "MMP21", "matrix metalloproteinase 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118856 ; - skos:exactMatch HGNC_symbol:MMP21 ; + skos:exactMatch UMLS:C1422589, + HGNC:14357, + HGNC_symbol:MMP21 ; biolink:category biolink:Gene . OMIM:608417 a owl:Class ; @@ -251929,13 +261309,14 @@ OMIM:608417 a owl:Class ; PMID:11255011, PMID:11574168, PMID:19265166 ; - oboInOwl:hasDbXref UMLS:C1422595 ; oboInOwl:hasExactSynonym "MMP28", "epilysin", "matrix metalloproteinase 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79148 ; - skos:exactMatch HGNC_symbol:MMP28 ; + skos:exactMatch UMLS:C1422595, + HGNC:14366, + HGNC_symbol:MMP28 ; biolink:category biolink:Gene . OMIM:608418 a owl:Class ; @@ -251944,13 +261325,14 @@ OMIM:608418 a owl:Class ; PMID:12023038, PMID:12909369, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1424343 ; oboInOwl:hasExactSynonym "SEPT8", "kiaa0202", "septin 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23176 ; - skos:exactMatch HGNC_symbol:SEPTIN8 ; + skos:exactMatch UMLS:C1424343, + HGNC:16511, + HGNC_symbol:SEPTIN8 ; biolink:category biolink:Gene . OMIM:608419 a owl:Class ; @@ -251961,13 +261343,14 @@ OMIM:608419 a owl:Class ; PMID:6643681 ; RO:0002525 CHR:9606chr2p13.3 ; RO:0003303 OMIM:251120 ; - oboInOwl:hasDbXref UMLS:C1424510 ; oboInOwl:hasExactSynonym "MCEE", "methylmalonyl-coa epimerase", "methylmalonyl-coa racemase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84693 ; - skos:exactMatch HGNC_symbol:MCEE ; + skos:exactMatch UMLS:C1424510, + HGNC:16732, + HGNC_symbol:MCEE ; biolink:category biolink:Gene . OMIM:608420 a owl:Class ; @@ -251984,50 +261367,54 @@ OMIM:608420 a owl:Class ; PMID:32494015 ; RO:0002525 CHR:9606chr11q21 ; RO:0003303 OMIM:618550 ; - oboInOwl:hasDbXref UMLS:C1418264 ; oboInOwl:hasExactSynonym "PANX1", "pannexin 1", "px1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24145 ; - skos:exactMatch HGNC_symbol:PANX1 ; + skos:exactMatch UMLS:C1418264, + HGNC:8599, + HGNC_symbol:PANX1 ; biolink:category biolink:Gene . OMIM:608421 a owl:Class ; rdfs:label "PANX2" ; IAO:0000142 PMID:14597722 ; - oboInOwl:hasDbXref UMLS:C1418265 ; oboInOwl:hasExactSynonym "PANX2", "pannexin 2", "px2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56666 ; - skos:exactMatch HGNC_symbol:PANX2 ; + skos:exactMatch UMLS:C1418265, + HGNC:8600, + HGNC_symbol:PANX2 ; biolink:category biolink:Gene . OMIM:608422 a owl:Class ; rdfs:label "PANX3" ; IAO:0000142 PMID:14597722, PMID:25239622 ; - oboInOwl:hasDbXref UMLS:C1427010 ; oboInOwl:hasExactSynonym "PANX3", "pannexin 3", "px3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116337 ; - skos:exactMatch HGNC_symbol:PANX3 ; + skos:exactMatch UMLS:C1427010, + HGNC:20573, + HGNC_symbol:PANX3 ; biolink:category biolink:Gene . OMIM:608424 a owl:Class ; rdfs:label "MUC17" ; IAO:0000142 PMID:11855812, PMID:17058067 ; - oboInOwl:hasDbXref UMLS:C1424559 ; oboInOwl:hasExactSynonym "MUC17", "mucin 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140453 ; - skos:exactMatch HGNC_symbol:MUC17 ; + skos:exactMatch UMLS:C1424559, + HGNC:16800, + HGNC_symbol:MUC17 ; biolink:category biolink:Gene . OMIM:608425 a owl:Class ; @@ -252035,23 +261422,25 @@ OMIM:608425 a owl:Class ; IAO:0000142 PMID:11016445, PMID:14633848, PMID:15381090 ; - oboInOwl:hasDbXref UMLS:C1539522 ; oboInOwl:hasExactSynonym "fn3k", "fructosamine 3-kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64122 ; - skos:exactMatch HGNC_symbol:FN3K ; + skos:exactMatch UMLS:C1539522, + HGNC:24822, + HGNC_symbol:FN3K ; biolink:category biolink:Gene . OMIM:608426 a owl:Class ; rdfs:label "MKRN2" ; IAO:0000142 PMID:11597136 ; - oboInOwl:hasDbXref UMLS:C1417178 ; oboInOwl:hasExactSynonym "MKRN2", "makorin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23609 ; - skos:exactMatch HGNC_symbol:MKRN2 ; + skos:exactMatch UMLS:C1417178, + HGNC:7113, + HGNC_symbol:MKRN2 ; biolink:category biolink:Gene . OMIM:608427 a owl:Class ; @@ -252063,12 +261452,13 @@ OMIM:608427 a owl:Class ; PMID:20106870, PMID:21816242, PMID:23052943 ; - oboInOwl:hasDbXref UMLS:C1426045 ; oboInOwl:hasExactSynonym "PACRG", "parkin coregulated gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135138 ; - skos:exactMatch HGNC_symbol:PACRG ; + skos:exactMatch UMLS:C1426045, + HGNC:19152, + HGNC_symbol:PACRG ; biolink:category biolink:Gene . OMIM:608428 a owl:Class ; @@ -252079,12 +261469,13 @@ OMIM:608428 a owl:Class ; PMID:29706635 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:614974 ; - oboInOwl:hasDbXref UMLS:C1427013 ; oboInOwl:hasExactSynonym "CYP26C1", "cytochrome p450, subfamily xxvic, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340665 ; - skos:exactMatch HGNC_symbol:CYP26C1 ; + skos:exactMatch UMLS:C1427013, + HGNC:20577, + HGNC_symbol:CYP26C1 ; biolink:category biolink:Gene . OMIM:608429 a owl:Class ; @@ -252107,20 +261498,20 @@ OMIM:608429 a owl:Class ; PMID:9084938 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:601776 ; - oboInOwl:hasDbXref UMLS:C1428376 ; oboInOwl:hasExactSynonym "CHST14", "carbohydrate sulfotransferase 14", "dermatan-4-sulfotransferase 1", "n-acetylgalactosamine 4-0 sulfotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113189 ; - skos:exactMatch HGNC_symbol:CHST14 ; + skos:exactMatch UMLS:C1428376, + HGNC:24464, + HGNC_symbol:CHST14 ; biolink:category biolink:Gene . OMIM:608430 a owl:Class ; rdfs:label "TRPC4AP" ; IAO:0000142 PMID:14585990 ; - oboInOwl:hasDbXref UMLS:C1424058 ; oboInOwl:hasExactSynonym "TRPC4AP", "tnfr1-associated ubiquitous scaffolding and signaling protein", "transient receptor potential channel 4-associated protein", @@ -252128,7 +261519,9 @@ OMIM:608430 a owl:Class ; "tumor necrosis factor receptor 1-associated ubiquitous scaffolding and signaling protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26133 ; - skos:exactMatch HGNC_symbol:TRPC4AP ; + skos:exactMatch UMLS:C1424058, + HGNC:16181, + HGNC_symbol:TRPC4AP ; biolink:category biolink:Gene . OMIM:608431 a owl:Class ; @@ -252136,7 +261529,6 @@ OMIM:608431 a owl:Class ; IAO:0000142 PMID:12642610, PMID:8649363, PMID:9889278 ; - oboInOwl:hasDbXref UMLS:C1825325 ; oboInOwl:hasExactSynonym "G3BP1", "gap sh3 domain-binding protein", "gtpase-activating protein sh3 domain-binding protein 1", @@ -252145,14 +261537,16 @@ OMIM:608431 a owl:Class ; "ras-gtpase-activating protein sh3 domain-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10146 ; - skos:exactMatch HGNC_symbol:G3BP1 ; + skos:exactMatch UMLS:C1825325, + HGNC:30292, + HGNC_symbol:G3BP1 ; biolink:category biolink:Gene . OMIM:608432 a owl:Class ; rdfs:label "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" ; IAO:0000142 PMID:14564206 ; - oboInOwl:hasDbXref UMLS:C1842058 ; - oboInOwl:hasExactSynonym "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" . + oboInOwl:hasExactSynonym "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" ; + skos:exactMatch UMLS:C1842058 . OMIM:608433 a owl:Class ; rdfs:label "ZBTB18" ; @@ -252168,7 +261562,6 @@ OMIM:608433 a owl:Class ; PMID:9756912 ; RO:0002525 CHR:9606chr1q44 ; RO:0003303 OMIM:612337 ; - oboInOwl:hasDbXref UMLS:C1421725 ; oboInOwl:hasExactSynonym "ZBTB18", "c2h2-171", "repressor protein, 58-kd", @@ -252176,7 +261569,9 @@ OMIM:608433 a owl:Class ; "zinc finger- and btb domain-containing protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10472 ; - skos:exactMatch HGNC_symbol:ZBTB18 ; + skos:exactMatch UMLS:C1421725, + HGNC:13030, + HGNC_symbol:ZBTB18 ; biolink:category biolink:Gene . OMIM:608434 a owl:Class ; @@ -252187,7 +261582,6 @@ OMIM:608434 a owl:Class ; PMID:15383276, PMID:21499268, PMID:9826657 ; - oboInOwl:hasDbXref UMLS:C1333676 ; oboInOwl:hasExactSynonym "GIT1", "arf gtpase-activating protein git1", "cool-associated and tyrosine-phosphorylated protein 1", @@ -252197,7 +261591,9 @@ OMIM:608434 a owl:Class ; "grk-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28964 ; - skos:exactMatch HGNC_symbol:GIT1 ; + skos:exactMatch UMLS:C1333676, + HGNC:4272, + HGNC_symbol:GIT1 ; biolink:category biolink:Gene . OMIM:608435 a owl:Class ; @@ -252212,13 +261608,14 @@ OMIM:608435 a owl:Class ; PMID:9400994 ; RO:0002525 CHR:9606chr3q22.3 ; RO:0003303 OMIM:618499 ; - oboInOwl:hasDbXref UMLS:C1367476 ; oboInOwl:hasExactSynonym "MRAS", "muscle ras viral oncogene homolog", "related ras viral oncogene homolog 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22808 ; - skos:exactMatch HGNC_symbol:MRAS ; + skos:exactMatch UMLS:C1367476, + HGNC:7227, + HGNC_symbol:MRAS ; biolink:category biolink:Gene . OMIM:608436 a owl:Class ; @@ -252226,13 +261623,14 @@ OMIM:608436 a owl:Class ; IAO:0000142 PMID:11688987, PMID:9443824, PMID:9463486 ; - oboInOwl:hasDbXref UMLS:C1425126 ; oboInOwl:hasExactSynonym "SULT1B1", "sulfotransferase 1b2", "sulfotransferase family 1b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27284 ; - skos:exactMatch HGNC_symbol:SULT1B1 ; + skos:exactMatch UMLS:C1425126, + HGNC:17845, + HGNC_symbol:SULT1B1 ; biolink:category biolink:Gene . OMIM:608438 a owl:Class ; @@ -252242,14 +261640,15 @@ OMIM:608438 a owl:Class ; PMID:12955071, PMID:8590280, PMID:9427565 ; - oboInOwl:hasDbXref UMLS:C1420756 ; oboInOwl:hasExactSynonym "TLK1", "kiaa0137", "protein kinase, ubiquitous-beta", "tousled-like kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9874 ; - skos:exactMatch HGNC_symbol:TLK1 ; + skos:exactMatch UMLS:C1420756, + HGNC:11841, + HGNC_symbol:TLK1 ; biolink:category biolink:Gene . OMIM:608439 a owl:Class ; @@ -252262,13 +261661,14 @@ OMIM:608439 a owl:Class ; PMID:9427565 ; RO:0002525 CHR:9606chr17q23.2 ; RO:0003303 OMIM:618050 ; - oboInOwl:hasDbXref UMLS:C1420757 ; oboInOwl:hasExactSynonym "TLK2", "protein kinase, ubiquitous-alpha", "tousled-like kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11011 ; - skos:exactMatch HGNC_symbol:TLK2 ; + skos:exactMatch UMLS:C1420757, + HGNC:11842, + HGNC_symbol:TLK2 ; biolink:category biolink:Gene . OMIM:608440 a owl:Class ; @@ -252278,13 +261678,14 @@ OMIM:608440 a owl:Class ; PMID:12164938, PMID:18344982, PMID:28329758 ; - oboInOwl:hasDbXref UMLS:C1442492 ; oboInOwl:hasExactSynonym "LACTB", "lactamase, beta", "mitochondrial ribosomal protein l56" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114294 ; - skos:exactMatch HGNC_symbol:LACTB ; + skos:exactMatch UMLS:C1442492, + HGNC:16468, + HGNC_symbol:LACTB ; biolink:category biolink:Gene . OMIM:608441 a owl:Class ; @@ -252311,12 +261712,6 @@ OMIM:608441 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr6q25.2 ; RO:0003303 OMIM:610743 ; - oboInOwl:hasDbXref UMLS:C1424736, - UMLS:C1853116, - UMLS:C2751807, - UMLS:C2986382, - UMLS:C4015968, - UMLS:C5193121 ; oboInOwl:hasExactSynonym "SYNE1", "cpg2 isoform", "cpg2b isoform", @@ -252329,7 +261724,14 @@ OMIM:608441 a owl:Class ; "synaptic nuclear envelope protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23345 ; - skos:exactMatch HGNC_symbol:SYNE1 ; + skos:exactMatch UMLS:C1424736, + UMLS:C1853116, + UMLS:C2751807, + UMLS:C2986382, + UMLS:C4015968, + UMLS:C5193121, + HGNC:17089, + HGNC_symbol:SYNE1 ; biolink:category biolink:Gene . OMIM:608442 a owl:Class ; @@ -252345,8 +261747,6 @@ OMIM:608442 a owl:Class ; PMID:26066746 ; RO:0002525 CHR:9606chr14q23.2 ; RO:0003303 OMIM:612999 ; - oboInOwl:hasDbXref UMLS:C1424731, - UMLS:C3489792 ; oboInOwl:hasExactSynonym "SYNE2", "kiaa1011", "nesprin 2", @@ -252356,7 +261756,10 @@ OMIM:608442 a owl:Class ; "synaptic nuclear envelope protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23224 ; - skos:exactMatch HGNC_symbol:SYNE2 ; + skos:exactMatch UMLS:C1424731, + UMLS:C3489792, + HGNC:17084, + HGNC_symbol:SYNE2 ; biolink:category biolink:Gene . OMIM:608444 a owl:Class ; @@ -252367,13 +261770,14 @@ OMIM:608444 a owl:Class ; PMID:31079897 ; RO:0002525 CHR:9606chr7q22.3 ; RO:0003303 OMIM:618512 ; - oboInOwl:hasDbXref UMLS:C1425586 ; oboInOwl:hasExactSynonym "KMT2E", "lysine-specific methyltransferase 2e", "myeloid/lymphoid or mixed-lineage leukemia 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55904 ; - skos:exactMatch HGNC_symbol:KMT2E ; + skos:exactMatch UMLS:C1425586, + HGNC:18541, + HGNC_symbol:KMT2E ; biolink:category biolink:Gene . OMIM:608449 a owl:Class ; @@ -252383,24 +261787,26 @@ OMIM:608449 a owl:Class ; PMID:16002244, PMID:17679093, PMID:30733148 ; - oboInOwl:hasDbXref UMLS:C1425029 ; oboInOwl:hasExactSynonym "PTBP2", "neuronal polypyrimidine tract-binding protein", "polypyrimidine tract-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58155 ; - skos:exactMatch HGNC_symbol:PTBP2 ; + skos:exactMatch UMLS:C1425029, + HGNC:17662, + HGNC_symbol:PTBP2 ; biolink:category biolink:Gene . OMIM:608450 a owl:Class ; rdfs:label "BLACE" ; IAO:0000142 PMID:14667812 ; - oboInOwl:hasDbXref UMLS:C1426967 ; oboInOwl:hasExactSynonym "BLACE", "b-cell acute lymphoblastic leukemia-expressed gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338436 ; - skos:exactMatch HGNC_symbol:BLACE ; + skos:exactMatch UMLS:C1426967, + HGNC:20484, + HGNC_symbol:BLACE ; biolink:category biolink:Gene . OMIM:608451 a owl:Class ; @@ -252414,7 +261820,6 @@ OMIM:608451 a owl:Class ; PMID:23144459 ; RO:0002525 CHR:9606chr19q13.31 ; RO:0003303 OMIM:602473 ; - oboInOwl:hasDbXref UMLS:C1428025 ; oboInOwl:hasExactSynonym "ETHE1", "d83198", "ethe1 gene", @@ -252422,7 +261827,9 @@ OMIM:608451 a owl:Class ; "hepatoma subtracted clone one" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23474 ; - skos:exactMatch HGNC_symbol:ETHE1 ; + skos:exactMatch UMLS:C1428025, + HGNC:23287, + HGNC_symbol:ETHE1 ; biolink:category biolink:Gene . OMIM:608452 a owl:Class ; @@ -252435,13 +261842,14 @@ OMIM:608452 a owl:Class ; PMID:15372073, PMID:17460299, PMID:18568034 ; - oboInOwl:hasDbXref UMLS:C1418436 ; oboInOwl:hasExactSynonym "PDGFC", "fallotein", "platelet-derived growth factor c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56034 ; - skos:exactMatch HGNC_symbol:PDGFC ; + skos:exactMatch UMLS:C1418436, + HGNC:8801, + HGNC_symbol:PDGFC ; biolink:category biolink:Gene . OMIM:608453 a owl:Class ; @@ -252450,13 +261858,14 @@ OMIM:608453 a owl:Class ; PMID:10571044, PMID:12711395, PMID:14560016 ; - oboInOwl:hasDbXref UMLS:C1423865 ; oboInOwl:hasExactSynonym "CBLC", "cas-br-m murine ecotropic retroviral transforming sequence c", "cbl3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23624 ; - skos:exactMatch HGNC_symbol:CBLC ; + skos:exactMatch UMLS:C1423865, + HGNC:15961, + HGNC_symbol:CBLC ; biolink:category biolink:Gene . OMIM:608454 a owl:Class ; @@ -252497,13 +261906,14 @@ OMIM:608455 a owl:Class ; PMID:9633816 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:232600 ; - oboInOwl:hasDbXref UMLS:C1419157 ; oboInOwl:hasExactSynonym "PYGM", "glycogen phosphorylase, muscle", "myophosphorylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5837 ; - skos:exactMatch HGNC_symbol:PYGM ; + skos:exactMatch UMLS:C1419157, + HGNC:9726, + HGNC_symbol:PYGM ; biolink:category biolink:Gene . OMIM:608456 a owl:Class ; @@ -252516,12 +261926,12 @@ OMIM:608456 a owl:Class ; PMID:15690400, PMID:17956577, PMID:21815886 ; - oboInOwl:hasDbXref UMLS:C1837991 ; oboInOwl:hasExactSynonym "FAP2", "adenomas, multiple colorectal, autosomal recessive", "colorectal adenomatous polyposis, autosomal recessive", "familial adenomatous polyposis 2" ; rdfs:subClassOf OMIMPS:175100 ; + skos:exactMatch UMLS:C1837991 ; biolink:category biolink:Disease . OMIM:608457 a owl:Class ; @@ -252529,13 +261939,14 @@ OMIM:608457 a owl:Class ; IAO:0000142 PMID:14647293, PMID:17374722, PMID:22226355 ; - oboInOwl:hasDbXref UMLS:C1413162 ; oboInOwl:hasExactSynonym "CBX7", "chromobox 7", "chromobox homolog 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23492 ; - skos:exactMatch HGNC_symbol:CBX7 ; + skos:exactMatch UMLS:C1413162, + HGNC:1557, + HGNC_symbol:CBX7 ; biolink:category biolink:Gene . OMIM:608458 a owl:Class ; @@ -252546,38 +261957,41 @@ OMIM:608458 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr1p34.3 ; RO:0003303 OMIM:619373 ; - oboInOwl:hasDbXref UMLS:C1538048 ; oboInOwl:hasExactSynonym "NCDN", "kiaa0607", "neurochondrin", "norbin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23154 ; - skos:exactMatch HGNC_symbol:NCDN ; + skos:exactMatch UMLS:C1538048, + HGNC:17597, + HGNC_symbol:NCDN ; biolink:category biolink:Gene . OMIM:608459 a owl:Class ; rdfs:label "CDKL3" ; IAO:0000142 PMID:10463609, PMID:12927787 ; - oboInOwl:hasDbXref UMLS:C1423521 ; oboInOwl:hasExactSynonym "CDKL3", "cyclin-dependent kinase-like 3", "nkiamre" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51265 ; - skos:exactMatch HGNC_symbol:CDKL3 ; + skos:exactMatch UMLS:C1423521, + HGNC:15483, + HGNC_symbol:CDKL3 ; biolink:category biolink:Gene . OMIM:608460 a owl:Class ; rdfs:label "ZFP276" ; IAO:0000142 PMID:10936049 ; - oboInOwl:hasDbXref UMLS:C1823967 ; oboInOwl:hasExactSynonym "ZFP276", "zinc finger protein 276" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92822 ; - skos:exactMatch HGNC_symbol:ZNF276 ; + skos:exactMatch UMLS:C1823967, + HGNC:23330, + HGNC_symbol:ZNF276 ; biolink:category biolink:Gene . OMIM:608461 a owl:Class ; @@ -252591,13 +262005,14 @@ OMIM:608461 a owl:Class ; PMID:28895531 ; RO:0002525 CHR:9606chr9q32 ; RO:0003303 OMIM:615155 ; - oboInOwl:hasDbXref UMLS:C1427837 ; oboInOwl:hasExactSynonym "COL27A1", "collagen, iia xxvii, alpha-1", "kiaa1870" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85301 ; - skos:exactMatch HGNC_symbol:COL27A1 ; + skos:exactMatch UMLS:C1427837, + HGNC:22986, + HGNC_symbol:COL27A1 ; biolink:category biolink:Gene . OMIM:608463 a owl:Class ; @@ -252606,13 +262021,14 @@ OMIM:608463 a owl:Class ; PMID:11027528, PMID:12847090, PMID:14636992 ; - oboInOwl:hasDbXref UMLS:C1426102 ; oboInOwl:hasExactSynonym "AATF", "apoptosis-antagonizing transcription factor", "che1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26574 ; - skos:exactMatch HGNC_symbol:AATF ; + skos:exactMatch UMLS:C1426102, + HGNC:19235, + HGNC_symbol:AATF ; biolink:category biolink:Gene . OMIM:608464 a owl:Class ; @@ -252620,14 +262036,15 @@ OMIM:608464 a owl:Class ; IAO:0000142 PMID:14961121, PMID:16443853, PMID:17103452 ; - oboInOwl:hasDbXref UMLS:C1540193 ; oboInOwl:hasExactSynonym "AGGF1", "angiogenic factor with g-patch and fha domains 1", "flj10283", "vg5q gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55109 ; - skos:exactMatch HGNC_symbol:AGGF1 ; + skos:exactMatch UMLS:C1540193, + HGNC:24684, + HGNC_symbol:AGGF1 ; biolink:category biolink:Gene . OMIM:608465 a owl:Class ; @@ -252648,12 +262065,13 @@ OMIM:608465 a owl:Class ; PMID:9883726 ; RO:0002525 CHR:9606chr9q34.13 ; RO:0003303 OMIM:606002 ; - oboInOwl:hasDbXref UMLS:C1822695 ; oboInOwl:hasExactSynonym "SETX", "senataxin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23064 ; - skos:exactMatch HGNC_symbol:SETX ; + skos:exactMatch UMLS:C1822695, + HGNC:445, + HGNC_symbol:SETX ; biolink:category biolink:Gene . OMIM:608466 a owl:Class ; @@ -252661,27 +262079,29 @@ OMIM:608466 a owl:Class ; IAO:0000142 PMID:11554768, PMID:12604615, PMID:17110338 ; - oboInOwl:hasDbXref UMLS:C1412886 ; oboInOwl:hasExactSynonym "AHSA1", "activator of heat-shock 90-kd protein atpase 1", "aha1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10598 ; - skos:exactMatch HGNC_symbol:AHSA1 ; + skos:exactMatch UMLS:C1412886, + HGNC:1189, + HGNC_symbol:AHSA1 ; biolink:category biolink:Gene . OMIM:608467 a owl:Class ; rdfs:label "STON2" ; IAO:0000142 PMID:11381094, PMID:11454741 ; - oboInOwl:hasDbXref UMLS:C1823136 ; oboInOwl:hasExactSynonym "STON2", "stn2", "stoned b, drosophila, homolog of", "stonin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85439 ; - skos:exactMatch HGNC_symbol:STON2 ; + skos:exactMatch UMLS:C1823136, + HGNC:30652, + HGNC_symbol:STON2 ; biolink:category biolink:Gene . OMIM:608468 a owl:Class ; @@ -252690,7 +262110,6 @@ OMIM:608468 a owl:Class ; PMID:12031487, PMID:17517647, PMID:20498072 ; - oboInOwl:hasDbXref UMLS:C1422515 ; oboInOwl:hasExactSynonym "CCRN4L", "carbon catabolite repression 4-like", "ccr4, s. cerevisiae, homolog of", @@ -252698,7 +262117,9 @@ OMIM:608468 a owl:Class ; "nocturnin, xenopus, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25819 ; - skos:exactMatch HGNC_symbol:NOCT ; + skos:exactMatch UMLS:C1422515, + HGNC:14254, + HGNC_symbol:NOCT ; biolink:category biolink:Gene . OMIM:608469 a owl:Class ; @@ -252708,7 +262129,6 @@ OMIM:608469 a owl:Class ; PMID:12193588, PMID:17011493, PMID:8871553 ; - oboInOwl:hasDbXref UMLS:C1413957 ; oboInOwl:hasExactSynonym "DDX17", "RNA helicase, 70-kd", "dead-box helicase 17", @@ -252716,7 +262136,9 @@ OMIM:608469 a owl:Class ; "p72" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10521 ; - skos:exactMatch HGNC_symbol:DDX17 ; + skos:exactMatch UMLS:C1413957, + HGNC:2740, + HGNC_symbol:DDX17 ; biolink:category biolink:Gene . OMIM:608470 a owl:Class ; @@ -252733,13 +262155,13 @@ OMIM:608470 a owl:Class ; PMID:7671605, PMID:9054935, PMID:9727509 ; - oboInOwl:hasDbXref UMLS:C0339278 ; oboInOwl:hasExactSynonym "CDRB", "corneal dystrophy of bowman layer, iia 1", "corneal dystrophy, geographic", "corneal dystrophy, reis-bucklers iia", "granular corneal dystrophy, iia 3", "reis-bucklers corneal dystrophy" ; + skos:exactMatch UMLS:C0339278 ; biolink:category biolink:Disease . OMIM:608472 a owl:Class ; @@ -252747,14 +262169,15 @@ OMIM:608472 a owl:Class ; IAO:0000142 PMID:11347906, PMID:12235148, PMID:12603328 ; - oboInOwl:hasDbXref UMLS:C1539866 ; oboInOwl:hasExactSynonym "ST6GAL2", "kiaa1877", "st6 beta-galactosamide alpha-2,6-sialyltransferase 2", "st6galii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84620 ; - skos:exactMatch HGNC_symbol:ST6GAL2 ; + skos:exactMatch UMLS:C1539866, + HGNC:10861, + HGNC_symbol:ST6GAL2 ; biolink:category biolink:Gene . OMIM:608473 a owl:Class ; @@ -252764,75 +262187,81 @@ OMIM:608473 a owl:Class ; PMID:31303264 ; RO:0002525 CHR:9606chr2q13 ; RO:0003303 OMIM:618625 ; - oboInOwl:hasDbXref UMLS:C1426585 ; oboInOwl:hasExactSynonym "ANAPC1", "anaphase-promoting complex, subunit 1", "apc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64682 ; - skos:exactMatch HGNC_symbol:ANAPC1 ; + skos:exactMatch UMLS:C1426585, + HGNC:19988, + HGNC_symbol:ANAPC1 ; biolink:category biolink:Gene . OMIM:608475 a owl:Class ; rdfs:label "HIBADH" ; IAO:0000142 PMID:2647728 ; - oboInOwl:hasDbXref UMLS:C1415542 ; oboInOwl:hasExactSynonym "3-hydroxyisobutyrate dehydrogenase", "HIBADH" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11112 ; - skos:exactMatch HGNC_symbol:HIBADH ; + skos:exactMatch UMLS:C1415542, + HGNC:4907, + HGNC_symbol:HIBADH ; biolink:category biolink:Gene . OMIM:608476 a owl:Class ; rdfs:label "TBKBP1" ; IAO:0000142 PMID:14743216, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1823250 ; oboInOwl:hasExactSynonym "TBKBP1", "kiaa0775", "prosapip2", "tbk1-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9755 ; - skos:exactMatch HGNC_symbol:TBKBP1 ; + skos:exactMatch UMLS:C1823250, + HGNC:30140, + HGNC_symbol:TBKBP1 ; biolink:category biolink:Gene . OMIM:608477 a owl:Class ; rdfs:label "AKR7A3" ; IAO:0000142 PMID:10383892, PMID:12879023 ; - oboInOwl:hasDbXref UMLS:C1412329 ; oboInOwl:hasExactSynonym "AKR7A3", "aflatoxin b1-aldehyde reductase 2", "aldo-keto reductase family 7, member a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22977 ; - skos:exactMatch HGNC_symbol:AKR7A3 ; + skos:exactMatch UMLS:C1412329, + HGNC:390, + HGNC_symbol:AKR7A3 ; biolink:category biolink:Gene . OMIM:608478 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12879023 ; - oboInOwl:hasDbXref UMLS:C1837971 ; oboInOwl:hasExactSynonym "aflatoxin b1-aldehyde reductase 3", "akr7a4", "aldo-keto reductase family 7, member a4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246181 ; - skos:exactMatch HGNC_symbol:AKR7L ; + skos:exactMatch UMLS:C1837971, + HGNC:24056, + HGNC_symbol:AKR7L ; biolink:category biolink:Gene . OMIM:608479 a owl:Class ; rdfs:label "SLC26A7" ; IAO:0000142 PMID:11829495, PMID:11834742 ; - oboInOwl:hasDbXref UMLS:C1422673 ; oboInOwl:hasExactSynonym "SLC26A7", "solute carrier family 26 (sulfate transporter), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115111 ; - skos:exactMatch HGNC_symbol:SLC26A7 ; + skos:exactMatch UMLS:C1422673, + HGNC:14467, + HGNC_symbol:SLC26A7 ; biolink:category biolink:Gene . OMIM:608480 a owl:Class ; @@ -252843,24 +262272,26 @@ OMIM:608480 a owl:Class ; PMID:23582645 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:606766 ; - oboInOwl:hasDbXref UMLS:C1422674 ; oboInOwl:hasExactSynonym "SLC26A8", "solute carrier family 26 (sulfate transporter), member 8", "testis anion transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116369 ; - skos:exactMatch HGNC_symbol:SLC26A8 ; + skos:exactMatch UMLS:C1422674, + HGNC:14468, + HGNC_symbol:SLC26A8 ; biolink:category biolink:Gene . OMIM:608481 a owl:Class ; rdfs:label "SLC26A9" ; IAO:0000142 PMID:11834742 ; - oboInOwl:hasDbXref UMLS:C1422675 ; oboInOwl:hasExactSynonym "SLC26A9", "solute carrier family 26 (sulfate transporter), member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115019 ; - skos:exactMatch HGNC_symbol:SLC26A9 ; + skos:exactMatch UMLS:C1422675, + HGNC:14469, + HGNC_symbol:SLC26A9 ; biolink:category biolink:Gene . OMIM:608482 a owl:Class ; @@ -252870,7 +262301,6 @@ OMIM:608482 a owl:Class ; PMID:11034316, PMID:11226436, PMID:9653642 ; - oboInOwl:hasDbXref UMLS:C1422507 ; oboInOwl:hasExactSynonym "MMP25", "leukolysin", "matrix metalloproteinase 25", @@ -252879,41 +262309,45 @@ OMIM:608482 a owl:Class ; "mt6-mmp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64386 ; - skos:exactMatch HGNC_symbol:MMP25 ; + skos:exactMatch UMLS:C1422507, + HGNC:14246, + HGNC_symbol:MMP25 ; biolink:category biolink:Gene . OMIM:608483 a owl:Class ; rdfs:label "AKTIP" ; IAO:0000142 PMID:14749367 ; - oboInOwl:hasDbXref UMLS:C1823170 ; oboInOwl:hasExactSynonym "AKTIP", "akt-interacting protein", "ft1", "fused toes, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64400 ; - skos:exactMatch HGNC_symbol:AKTIP ; + skos:exactMatch UMLS:C1823170, + HGNC:16710, + HGNC_symbol:AKTIP ; biolink:category biolink:Gene . OMIM:608484 a owl:Class ; rdfs:label "congenital corneal opacities, cornea guttata, and corectopia" ; IAO:0000142 PMID:12860817 ; - oboInOwl:hasDbXref UMLS:C1837970 ; oboInOwl:hasExactSynonym "congenital corneal opacities, cornea guttata, and corectopia", - "corneal opacities, congenital, with cornea guttata and corectopia" . + "corneal opacities, congenital, with cornea guttata and corectopia" ; + skos:exactMatch UMLS:C1837970 . OMIM:608485 a owl:Class ; rdfs:label "TRAM2" ; IAO:0000142 PMID:10594243, PMID:14749390, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1424596 ; oboInOwl:hasExactSynonym "TRAM2", "kiaa0057", "translocation-associated membrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9697 ; - skos:exactMatch HGNC_symbol:TRAM2 ; + skos:exactMatch UMLS:C1424596, + HGNC:16855, + HGNC_symbol:TRAM2 ; biolink:category biolink:Gene . OMIM:608486 a owl:Class ; @@ -252923,14 +262357,15 @@ OMIM:608486 a owl:Class ; PMID:14752106, PMID:15545630, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1426941 ; oboInOwl:hasExactSynonym "MTSS1", "kiaa0429", "metastasis suppressor 1", "mim" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9788 ; - skos:exactMatch HGNC_symbol:MTSS1 ; + skos:exactMatch UMLS:C1426941, + HGNC:20443, + HGNC_symbol:MTSS1 ; biolink:category biolink:Gene . OMIM:608487 a owl:Class ; @@ -252944,13 +262379,14 @@ OMIM:608487 a owl:Class ; PMID:18323834, PMID:21512573, PMID:27919079 ; - oboInOwl:hasDbXref UMLS:C1424146 ; oboInOwl:hasExactSynonym "TRIM5", "rnf88", "tripartite motif-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85363 ; - skos:exactMatch HGNC_symbol:TRIM5 ; + skos:exactMatch UMLS:C1424146, + HGNC:16276, + HGNC_symbol:TRIM5 ; biolink:category biolink:Gene . OMIM:608488 a owl:Class ; @@ -252961,13 +262397,14 @@ OMIM:608488 a owl:Class ; PMID:21194680 ; RO:0002525 CHR:9606chr14q24.2 ; RO:0003303 OMIM:206920 ; - oboInOwl:hasDbXref UMLS:C1426855 ; oboInOwl:hasExactSynonym "SMOC1", "secreted modular calcium-binding protein 1", "sparc-related modular calcium-binding 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64093 ; - skos:exactMatch HGNC_symbol:SMOC1 ; + skos:exactMatch UMLS:C1426855, + HGNC:20318, + HGNC_symbol:SMOC1 ; biolink:category biolink:Gene . OMIM:608489 a owl:Class ; @@ -252977,28 +262414,30 @@ OMIM:608489 a owl:Class ; PMID:26059840 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:619672 ; - oboInOwl:hasDbXref UMLS:C1420450 ; oboInOwl:hasExactSynonym "STAG3", "cohesin subunit sa3", "stromal antigen 3", "stromalin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10734 ; - skos:exactMatch HGNC_symbol:STAG3 ; + skos:exactMatch UMLS:C1420450, + HGNC:11356, + HGNC_symbol:STAG3 ; biolink:category biolink:Gene . OMIM:608490 a owl:Class ; rdfs:label "SLC38A1" ; IAO:0000142 PMID:10891391, PMID:11325958 ; - oboInOwl:hasDbXref UMLS:C1421999 ; oboInOwl:hasExactSynonym "SLC38A1", "amino acid transporter system a, member 1", "n-system amino acid transporter 2", "solute carrier family 38 (amino acid transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81539 ; - skos:exactMatch HGNC_symbol:SLC38A1 ; + skos:exactMatch UMLS:C1421999, + HGNC:13447, + HGNC_symbol:SLC38A1 ; biolink:category biolink:Gene . OMIM:608491 a owl:Class ; @@ -253008,87 +262447,94 @@ OMIM:608491 a owl:Class ; PMID:12917399, PMID:8887674, PMID:9488476 ; - oboInOwl:hasDbXref UMLS:C1422784 ; oboInOwl:hasExactSynonym "DMTF1", "cyclin d-binding myb-like transcription factor 1", "dmp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9988 ; - skos:exactMatch HGNC_symbol:DMTF1 ; + skos:exactMatch UMLS:C1422784, + HGNC:14603, + HGNC_symbol:DMTF1 ; biolink:category biolink:Gene . OMIM:608492 a owl:Class ; rdfs:label "OR5F1" ; IAO:0000142 PMID:9787077 ; - oboInOwl:hasDbXref UMLS:C1418089 ; oboInOwl:hasExactSynonym "OR5F1", "olfactory receptor, family 5, subfamily f, member 1", "or11-10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338674 ; - skos:exactMatch HGNC_symbol:OR5F1 ; + skos:exactMatch UMLS:C1418089, + HGNC:8343, + HGNC_symbol:OR5F1 ; biolink:category biolink:Gene . OMIM:608493 a owl:Class ; rdfs:label "OR10A1" ; IAO:0000142 PMID:9787077 ; - oboInOwl:hasDbXref UMLS:C1423227 ; oboInOwl:hasExactSynonym "OR10A1", "olfactory receptor, family 10, subfamily a, member 1", "or11-403" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144124 ; - skos:exactMatch HGNC_symbol:OR10A5 ; + skos:exactMatch UMLS:C1423227, + HGNC:15131, + HGNC_symbol:OR10A5 ; biolink:category biolink:Gene . OMIM:608494 a owl:Class ; rdfs:label "OR2D2" ; IAO:0000142 PMID:9787077 ; - oboInOwl:hasDbXref UMLS:C1418024 ; oboInOwl:hasExactSynonym "OR2D2", "olfactory receptor, family 2, subfamily d, member 2", "or11-610" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120776 ; - skos:exactMatch HGNC_symbol:OR2D2 ; + skos:exactMatch UMLS:C1418024, + HGNC:8244, + HGNC_symbol:OR2D2 ; biolink:category biolink:Gene . OMIM:608495 a owl:Class ; rdfs:label "OR6A2" ; IAO:0000142 PMID:9787077 ; - oboInOwl:hasDbXref UMLS:C1423385 ; oboInOwl:hasExactSynonym "OR6A2", "olfactory receptor, family 6, subfamily a, member 2", "or11-55", "or6a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8590 ; - skos:exactMatch HGNC_symbol:OR6A2 ; + skos:exactMatch UMLS:C1423385, + HGNC:15301, + HGNC_symbol:OR6A2 ; biolink:category biolink:Gene . OMIM:608496 a owl:Class ; rdfs:label "OR5I1" ; IAO:0000142 PMID:9017400, PMID:9787077 ; - oboInOwl:hasDbXref UMLS:C1418092 ; oboInOwl:hasExactSynonym "OR5I1", "olf1", "olfactory receptor, family 5, subfamily i, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10798 ; - skos:exactMatch HGNC_symbol:OR5I1 ; + skos:exactMatch UMLS:C1418092, + HGNC:8347, + HGNC_symbol:OR5I1 ; biolink:category biolink:Gene . OMIM:608497 a owl:Class ; rdfs:label "OR2F1" ; IAO:0000142 PMID:9017400 ; - oboInOwl:hasDbXref UMLS:C1418025 ; oboInOwl:hasExactSynonym "OR2F1", "olf3", "olfactory receptor, family 2, subfamily f, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26211 ; - skos:exactMatch HGNC_symbol:OR2F1 ; + skos:exactMatch UMLS:C1418025, + HGNC:8246, + HGNC_symbol:OR2F1 ; biolink:category biolink:Gene . OMIM:608498 a owl:Class ; @@ -253098,27 +262544,29 @@ OMIM:608498 a owl:Class ; PMID:9378618 ; RO:0002525 CHR:9606chr7p12.2 ; RO:0003303 OMIM:619799 ; - oboInOwl:hasDbXref UMLS:C1423639 ; oboInOwl:hasExactSynonym "ZPBP", "sp38", "zona pellucida-binding protein", "zpbp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11055 ; - skos:exactMatch HGNC_symbol:ZPBP ; + skos:exactMatch UMLS:C1423639, + HGNC:15662, + HGNC_symbol:ZPBP ; biolink:category biolink:Gene . OMIM:608499 a owl:Class ; rdfs:label "ZPBP2" ; IAO:0000142 PMID:12883658, PMID:17664285 ; - oboInOwl:hasDbXref UMLS:C1538253 ; oboInOwl:hasExactSynonym "ZPBP2", "zona pellucida binding protein-like", "zona pellucida-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124626 ; - skos:exactMatch HGNC_symbol:ZPBP2 ; + skos:exactMatch UMLS:C1538253, + HGNC:20678, + HGNC_symbol:ZPBP2 ; biolink:category biolink:Gene . OMIM:608500 a owl:Class ; @@ -253132,7 +262580,6 @@ OMIM:608500 a owl:Class ; PMID:23420014 ; RO:0002525 CHR:9606chr12q12 ; RO:0003303 OMIM:612437 ; - oboInOwl:hasDbXref UMLS:C1424690 ; oboInOwl:hasExactSynonym "PRICKLE1", "pk1", "prickle planar cell polarity protein 1", @@ -253141,7 +262588,9 @@ OMIM:608500 a owl:Class ; "rest-interacting 51m domain protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144165 ; - skos:exactMatch HGNC_symbol:PRICKLE1 ; + skos:exactMatch UMLS:C1424690, + HGNC:17019, + HGNC_symbol:PRICKLE1 ; biolink:category biolink:Gene . OMIM:608501 a owl:Class ; @@ -253152,27 +262601,29 @@ OMIM:608501 a owl:Class ; PMID:26942291, PMID:26942292, PMID:632821 ; - oboInOwl:hasDbXref UMLS:C1426874 ; oboInOwl:hasExactSynonym "PRICKLE2", "prickle, drosophila, homolog of, 2", "prickle, planar cell polarity protein 2", "prickle-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166336 ; - skos:exactMatch HGNC_symbol:PRICKLE2 ; + skos:exactMatch UMLS:C1426874, + HGNC:20340, + HGNC_symbol:PRICKLE2 ; biolink:category biolink:Gene . OMIM:608502 a owl:Class ; rdfs:label "PCBP3" ; IAO:0000142 PMID:10936052, PMID:14612387 ; - oboInOwl:hasDbXref UMLS:C1418301 ; oboInOwl:hasExactSynonym "PCBP3", "alpha-cp3", "poly(rc)-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54039 ; - skos:exactMatch HGNC_symbol:PCBP3 ; + skos:exactMatch UMLS:C1418301, + HGNC:8651, + HGNC_symbol:PCBP3 ; biolink:category biolink:Gene . OMIM:608503 a owl:Class ; @@ -253180,14 +262631,15 @@ OMIM:608503 a owl:Class ; IAO:0000142 PMID:10891498, PMID:10936052, PMID:14612387 ; - oboInOwl:hasDbXref UMLS:C1418302 ; oboInOwl:hasExactSynonym "PCBP4", "alpha-cp4", "mcg10", "poly(rc)-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57060 ; - skos:exactMatch HGNC_symbol:PCBP4 ; + skos:exactMatch UMLS:C1418302, + HGNC:8652, + HGNC_symbol:PCBP4 ; biolink:category biolink:Gene . OMIM:608504 a owl:Class ; @@ -253196,14 +262648,15 @@ OMIM:608504 a owl:Class ; PMID:12775584, PMID:21029865, PMID:23647072 ; - oboInOwl:hasDbXref UMLS:C1423600 ; oboInOwl:hasExactSynonym "ARHGEF15", "ephexin 5", "kiaa0915", "rho guanine nucleotide exchange factor 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22899 ; - skos:exactMatch HGNC_symbol:ARHGEF15 ; + skos:exactMatch UMLS:C1423600, + HGNC:15590, + HGNC_symbol:ARHGEF15 ; biolink:category biolink:Gene . OMIM:608505 a owl:Class ; @@ -253219,12 +262672,13 @@ OMIM:608506 a owl:Class ; PMID:15509649, PMID:24091702, PMID:28114303 ; - oboInOwl:hasDbXref UMLS:C1425402 ; oboInOwl:hasExactSynonym "MFN1", "mitofusin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55669 ; - skos:exactMatch HGNC_symbol:MFN1 ; + skos:exactMatch UMLS:C1425402, + HGNC:18262, + HGNC_symbol:MFN1 ; biolink:category biolink:Gene . OMIM:608507 a owl:Class ; @@ -253270,16 +262724,17 @@ OMIM:608507 a owl:Class ; PMID:9409358 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:601152 ; - oboInOwl:hasDbXref UMLS:C0393807, - UMLS:C1424611, - UMLS:C4310725, - UMLS:C4310875 ; oboInOwl:hasExactSynonym "MFN2", "kiaa0214", "mitofusin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9927 ; - skos:exactMatch HGNC_symbol:MFN2 ; + skos:exactMatch UMLS:C0393807, + UMLS:C1424611, + UMLS:C4310725, + UMLS:C4310875, + HGNC:16877, + HGNC_symbol:MFN2 ; biolink:category biolink:Gene . OMIM:608508 a owl:Class ; @@ -253308,9 +262763,6 @@ OMIM:608508 a owl:Class ; PMID:9445163 ; RO:0002525 CHR:9606chr16q24.2 ; RO:0003303 OMIM:233690 ; - oboInOwl:hasDbXref UMLS:C1413843, - UMLS:C1856255, - UMLS:C4017159 ; oboInOwl:hasExactSynonym "CYBA", "cytochrome B light chain", "cytochrome b(-245), alpha subunit", @@ -253318,14 +262770,18 @@ OMIM:608508 a owl:Class ; "p22-phox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1535 ; - skos:exactMatch HGNC_symbol:CYBA ; + skos:exactMatch UMLS:C1413843, + UMLS:C1856255, + UMLS:C4017159, + HGNC:2577, + HGNC_symbol:CYBA ; biolink:category biolink:Gene . OMIM:608509 a owl:Class ; rdfs:label "alopecia universalis congenita, 10y gonadal dysgenesis, and laryngomalacia" ; IAO:0000142 PMID:12486505 ; - oboInOwl:hasDbXref UMLS:C1837946 ; - oboInOwl:hasExactSynonym "alopecia universalis congenita, 10y gonadal dysgenesis, and laryngomalacia" . + oboInOwl:hasExactSynonym "alopecia universalis congenita, 10y gonadal dysgenesis, and laryngomalacia" ; + skos:exactMatch UMLS:C1837946 . OMIM:608510 a owl:Class ; rdfs:label "SH2D1B" ; @@ -253333,13 +262789,14 @@ OMIM:608510 a owl:Class ; PMID:12115647, PMID:26432891, PMID:9000139 ; - oboInOwl:hasDbXref UMLS:C1822706 ; oboInOwl:hasExactSynonym "SH2D1B", "ews/fli1-activated transcript 2", "sh2 domain-containing 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117157 ; - skos:exactMatch HGNC_symbol:SH2D1B ; + skos:exactMatch UMLS:C1822706, + HGNC:30416, + HGNC_symbol:SH2D1B ; biolink:category biolink:Gene . OMIM:608511 a owl:Class ; @@ -253347,14 +262804,15 @@ OMIM:608511 a owl:Class ; IAO:0000142 PMID:10686344, PMID:11527414, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1424604 ; oboInOwl:hasExactSynonym "PHYHIP", "kiaa0273", "pahx-associated protein 1", "phytanoyl-coa hydroxylase-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9796 ; - skos:exactMatch HGNC_symbol:PHYHIP ; + skos:exactMatch UMLS:C1424604, + HGNC:16865, + HGNC_symbol:PHYHIP ; biolink:category biolink:Gene . OMIM:608512 a owl:Class ; @@ -253382,15 +262840,16 @@ OMIM:608512 a owl:Class ; PMID:9916719 ; RO:0002525 CHR:9606chr7q11.23 ; RO:0003303 OMIM:233700 ; - oboInOwl:hasDbXref UMLS:C1417608, - UMLS:C1856251 ; oboInOwl:hasExactSynonym "NCF1", "neutrophil cytosolic factor 1", "noxo2", "p47-phox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653361 ; - skos:exactMatch HGNC_symbol:NCF1 ; + skos:exactMatch UMLS:C1417608, + UMLS:C1856251, + HGNC:7660, + HGNC_symbol:NCF1 ; biolink:category biolink:Gene . OMIM:608513 a owl:Class ; @@ -253399,24 +262858,26 @@ OMIM:608513 a owl:Class ; PMID:16778078, PMID:2308839, PMID:2470644 ; - oboInOwl:hasDbXref UMLS:C1426137 ; oboInOwl:hasExactSynonym "RPPH1", "h1 RNA", "ribonuclease p, RNA component h1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85495 ; - skos:exactMatch HGNC_symbol:RPPH1 ; + skos:exactMatch UMLS:C1426137, + HGNC:19273, + HGNC_symbol:RPPH1 ; biolink:category biolink:Gene . OMIM:608514 a owl:Class ; rdfs:label "AIG1" ; IAO:0000142 PMID:11266118 ; - oboInOwl:hasDbXref UMLS:C1427643 ; oboInOwl:hasExactSynonym "AIG1", "androgen-induced gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51390 ; - skos:exactMatch HGNC_symbol:AIG1 ; + skos:exactMatch UMLS:C1427643, + HGNC:21607, + HGNC_symbol:AIG1 ; biolink:category biolink:Gene . OMIM:608515 a owl:Class ; @@ -253435,15 +262896,16 @@ OMIM:608515 a owl:Class ; PMID:9070911 ; RO:0002525 CHR:9606chr1q25.3 ; RO:0003303 OMIM:233710 ; - oboInOwl:hasDbXref UMLS:C1417609, - UMLS:C1856245 ; oboInOwl:hasExactSynonym "NCF2", "neutrophil cytosolic factor 2", "noxa2", "p67-phox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4688 ; - skos:exactMatch HGNC_symbol:NCF2 ; + skos:exactMatch UMLS:C1417609, + UMLS:C1856245, + HGNC:7661, + HGNC_symbol:NCF2 ; biolink:category biolink:Gene . OMIM:608517 a owl:Class ; @@ -253456,12 +262918,13 @@ OMIM:608517 a owl:Class ; PMID:28017374 ; RO:0002525 CHR:9606chr10q21.3 ; RO:0003303 OMIM:617336 ; - oboInOwl:hasDbXref UMLS:C1428017 ; oboInOwl:hasExactSynonym "MYPN", "myopalladin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84665 ; - skos:exactMatch HGNC_symbol:MYPN ; + skos:exactMatch UMLS:C1428017, + HGNC:23246, + HGNC_symbol:MYPN ; biolink:category biolink:Gene . OMIM:608518 a owl:Class ; @@ -253469,26 +262932,27 @@ OMIM:608518 a owl:Class ; IAO:0000142 PMID:1175324, PMID:14598343, PMID:2309783 ; - oboInOwl:hasDbXref UMLS:C0796100 ; oboInOwl:hasExactSynonym "OFD7", "ofds 7", "oral-facial-digital syndrome, iia 7", "orofaciodigital syndrome 7", "whelan syndrome" ; - rdfs:subClassOf OMIMPS:311200 . + rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C0796100 . OMIM:608519 a owl:Class ; rdfs:label "FBXO16" ; IAO:0000142 PMID:10531037, PMID:12243353, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422109 ; oboInOwl:hasExactSynonym "FBXO16", "f-box only protein 16", "fbx16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157574 ; - skos:exactMatch HGNC_symbol:FBXO16 ; + skos:exactMatch UMLS:C1422109, + HGNC:13618, + HGNC_symbol:FBXO16 ; biolink:category biolink:Gene . OMIM:608521 a owl:Class ; @@ -253499,7 +262963,6 @@ OMIM:608521 a owl:Class ; PMID:26299971, PMID:31314152, PMID:9499022 ; - oboInOwl:hasDbXref UMLS:C1425201 ; oboInOwl:hasExactSynonym "LAMTOR5", "hbx-interacting protein", "hepatitis B virus 10 protein-interacting protein", @@ -253507,7 +262970,9 @@ OMIM:608521 a owl:Class ; "late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10542 ; - skos:exactMatch HGNC_symbol:LAMTOR5 ; + skos:exactMatch UMLS:C1425201, + HGNC:17955, + HGNC_symbol:LAMTOR5 ; biolink:category biolink:Gene . OMIM:608522 a owl:Class ; @@ -253516,24 +262981,26 @@ OMIM:608522 a owl:Class ; PMID:11944984, PMID:12972596, PMID:16172393 ; - oboInOwl:hasDbXref UMLS:C1425324 ; oboInOwl:hasExactSynonym "HBXAP", "hepatitis B virus x-associated protein", "remodeling and spacing factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51773 ; - skos:exactMatch HGNC_symbol:RSF1 ; + skos:exactMatch UMLS:C1425324, + HGNC:18118, + HGNC_symbol:RSF1 ; biolink:category biolink:Gene . OMIM:608523 a owl:Class ; rdfs:label "DIO3OS" ; IAO:0000142 PMID:14962667 ; - oboInOwl:hasDbXref UMLS:C1426882 ; oboInOwl:hasExactSynonym "DIO3OS", "dio3, opposite strand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64150 ; - skos:exactMatch HGNC_symbol:DIO3OS ; + skos:exactMatch UMLS:C1426882, + HGNC:20348, + HGNC_symbol:DIO3OS ; biolink:category biolink:Gene . OMIM:608524 a owl:Class ; @@ -253544,23 +263011,25 @@ OMIM:608524 a owl:Class ; PMID:15897452, PMID:16387653, PMID:20381459 ; - oboInOwl:hasDbXref UMLS:C1426234 ; oboInOwl:hasExactSynonym "ING4", "inhibitor of growth 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51147 ; - skos:exactMatch HGNC_symbol:ING4 ; + skos:exactMatch UMLS:C1426234, + HGNC:19423, + HGNC_symbol:ING4 ; biolink:category biolink:Gene . OMIM:608525 a owl:Class ; rdfs:label "ING5" ; IAO:0000142 PMID:16387653 ; - oboInOwl:hasDbXref UMLS:C1426232 ; oboInOwl:hasExactSynonym "ING5", "inhibitor of growth 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84289 ; - skos:exactMatch HGNC_symbol:ING5 ; + skos:exactMatch UMLS:C1426232, + HGNC:19421, + HGNC_symbol:ING5 ; biolink:category biolink:Gene . OMIM:608527 a owl:Class ; @@ -253570,12 +263039,13 @@ OMIM:608527 a owl:Class ; PMID:15213228, PMID:19797320, PMID:22393058 ; - oboInOwl:hasDbXref UMLS:C1427488 ; oboInOwl:hasExactSynonym "NEU4", "neuraminidase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129807 ; - skos:exactMatch HGNC_symbol:NEU4 ; + skos:exactMatch UMLS:C1427488, + HGNC:21328, + HGNC_symbol:NEU4 ; biolink:category biolink:Gene . OMIM:608528 a owl:Class ; @@ -253585,14 +263055,15 @@ OMIM:608528 a owl:Class ; PMID:31353022 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:618590 ; - oboInOwl:hasDbXref UMLS:C1423732, - UMLS:C5231419 ; oboInOwl:hasExactSynonym "PIGU", "cell division cycle 91, s. cerevisiae, homolog-like 1", "phosphatidylinositol glycan anchor biosynthesis class u protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128869 ; - skos:exactMatch HGNC_symbol:PIGU ; + skos:exactMatch UMLS:C1423732, + UMLS:C5231419, + HGNC:15791, + HGNC_symbol:PIGU ; biolink:category biolink:Gene . OMIM:608529 a owl:Class ; @@ -253600,13 +263071,14 @@ OMIM:608529 a owl:Class ; IAO:0000142 PMID:11347906, PMID:14962672, PMID:17785364 ; - oboInOwl:hasDbXref UMLS:C1425778 ; oboInOwl:hasExactSynonym "FBN3", "fibrillin 3", "kiaa1776" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84467 ; - skos:exactMatch HGNC_symbol:FBN3 ; + skos:exactMatch UMLS:C1425778, + HGNC:18794, + HGNC_symbol:FBN3 ; biolink:category biolink:Gene . OMIM:608530 a owl:Class ; @@ -253614,12 +263086,13 @@ OMIM:608530 a owl:Class ; IAO:0000142 PMID:11179693, PMID:11818025, PMID:12878161 ; - oboInOwl:hasDbXref UMLS:C1412832 ; oboInOwl:hasExactSynonym "BTBD1", "btb/poz domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53339 ; - skos:exactMatch HGNC_symbol:BTBD1 ; + skos:exactMatch UMLS:C1412832, + HGNC:1120, + HGNC_symbol:BTBD1 ; biolink:category biolink:Gene . OMIM:608531 a owl:Class ; @@ -253627,12 +263100,13 @@ OMIM:608531 a owl:Class ; IAO:0000142 PMID:11179693, PMID:11818025, PMID:12878161 ; - oboInOwl:hasDbXref UMLS:C1423535 ; oboInOwl:hasExactSynonym "BTBD2", "btb/poz domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55643 ; - skos:exactMatch HGNC_symbol:BTBD2 ; + skos:exactMatch UMLS:C1423535, + HGNC:15504, + HGNC_symbol:BTBD2 ; biolink:category biolink:Gene . OMIM:608532 a owl:Class ; @@ -253643,7 +263117,6 @@ OMIM:608532 a owl:Class ; PMID:30609410 ; RO:0002525 CHR:9606chr7q36.3 ; RO:0003303 OMIM:618460 ; - oboInOwl:hasDbXref UMLS:C1826383 ; oboInOwl:hasExactSynonym "NCAPG2", "chromosome-associated protein g2", "condensin 2 complex, non-smc subunit g2", @@ -253651,7 +263124,9 @@ OMIM:608532 a owl:Class ; "non-smc condensin 2 complex subunit g2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54892 ; - skos:exactMatch HGNC_symbol:NCAPG2 ; + skos:exactMatch UMLS:C1826383, + HGNC:21904, + HGNC_symbol:NCAPG2 ; biolink:category biolink:Gene . OMIM:608533 a owl:Class ; @@ -253663,39 +263138,42 @@ OMIM:608533 a owl:Class ; PMID:7723957 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:615575 ; - oboInOwl:hasDbXref UMLS:C1539492 ; oboInOwl:hasExactSynonym "FBXO38", "f-box only protein 38", "fbx38", "modulator of klf7 activity, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81545 ; - skos:exactMatch HGNC_symbol:FBXO38 ; + skos:exactMatch UMLS:C1539492, + HGNC:28844, + HGNC_symbol:FBXO38 ; biolink:category biolink:Gene . OMIM:608534 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:11750065 ; - oboInOwl:hasDbXref UMLS:C1837928 ; oboInOwl:hasExactSynonym "actin-related protein m1", "arpm1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84517 ; - skos:exactMatch HGNC_symbol:ACTRT3 ; + skos:exactMatch UMLS:C1837928, + HGNC:24022, + HGNC_symbol:ACTRT3 ; biolink:category biolink:Gene . OMIM:608535 a owl:Class ; rdfs:label "ACTRT2" ; IAO:0000142 PMID:11750065, PMID:12243744 ; - oboInOwl:hasDbXref UMLS:C1826405 ; oboInOwl:hasExactSynonym "ACTRT2", "actin-related protein m2", "actin-related protein t2", "arpt2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140625 ; - skos:exactMatch HGNC_symbol:ACTRT2 ; + skos:exactMatch UMLS:C1826405, + HGNC:24026, + HGNC_symbol:ACTRT2 ; biolink:category biolink:Gene . OMIM:608536 a owl:Class ; @@ -253705,13 +263183,14 @@ OMIM:608536 a owl:Class ; PMID:25434004 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:616198 ; - oboInOwl:hasDbXref UMLS:C1423020 ; oboInOwl:hasExactSynonym "GTPBP3", "gtp-binding protein 3", "mss1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84705 ; - skos:exactMatch HGNC_symbol:GTPBP3 ; + skos:exactMatch UMLS:C1423020, + HGNC:14880, + HGNC_symbol:GTPBP3 ; biolink:category biolink:Gene . OMIM:608537 a owl:Class ; @@ -253831,18 +263310,19 @@ OMIM:608537 a owl:Class ; PMID:9880225 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:193300 ; - oboInOwl:hasDbXref UMLS:C0019562, + oboInOwl:hasExactSynonym "VHL", + "von hippel-lindau tumor suppressor" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:7428 ; + skos:exactMatch UMLS:C0019562, UMLS:C0031511, UMLS:C0694897, UMLS:C1837915, UMLS:C4017160, UMLS:C4017161, - UMLS:C5394582 ; - oboInOwl:hasExactSynonym "VHL", - "von hippel-lindau tumor suppressor" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:7428 ; - skos:exactMatch HGNC_symbol:VHL ; + UMLS:C5394582, + HGNC:12687, + HGNC_symbol:VHL ; biolink:category biolink:Gene . OMIM:608538 a owl:Class ; @@ -253852,7 +263332,6 @@ OMIM:608538 a owl:Class ; PMID:14651970, PMID:15640446, PMID:26287746 ; - oboInOwl:hasDbXref UMLS:C1424935 ; oboInOwl:hasExactSynonym "ARID5B", "arid-containing protein 5b", "at-rich interaction domain-containing protein 5b", @@ -253860,7 +263339,9 @@ OMIM:608538 a owl:Class ; "modulator recognition factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84159 ; - skos:exactMatch HGNC_symbol:ARID5B ; + skos:exactMatch UMLS:C1424935, + HGNC:17362, + HGNC_symbol:ARID5B ; biolink:category biolink:Gene . OMIM:608539 a owl:Class ; @@ -253871,13 +263352,14 @@ OMIM:608539 a owl:Class ; PMID:23559409 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:611498 ; - oboInOwl:hasDbXref UMLS:C1539573 ; oboInOwl:hasExactSynonym "GLIS2", "gli-similar protein 2", "glis family zinc finger protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84662 ; - skos:exactMatch HGNC_symbol:GLIS2 ; + skos:exactMatch UMLS:C1539573, + HGNC:29450, + HGNC_symbol:GLIS2 ; biolink:category biolink:Gene . OMIM:608541 a owl:Class ; @@ -253888,7 +263370,6 @@ OMIM:608541 a owl:Class ; PMID:16260724, PMID:17663722, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1837895 ; oboInOwl:hasExactSynonym "gtpase interacting with trka", "kiaa0712", "p200rhogap", @@ -253898,7 +263379,9 @@ OMIM:608541 a owl:Class ; "rics" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9743 ; - skos:exactMatch HGNC_symbol:ARHGAP32 ; + skos:exactMatch UMLS:C1837895, + HGNC:17399, + HGNC_symbol:ARHGAP32 ; biolink:category biolink:Gene . OMIM:608544 a owl:Class ; @@ -253907,12 +263390,13 @@ OMIM:608544 a owl:Class ; PMID:11726666, PMID:11739383, PMID:11861901 ; - oboInOwl:hasDbXref UMLS:C1425333 ; oboInOwl:hasExactSynonym "HDAC10", "histone deacetylase 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83933 ; - skos:exactMatch HGNC_symbol:HDAC10 ; + skos:exactMatch UMLS:C1425333, + HGNC:18128, + HGNC_symbol:HDAC10 ; biolink:category biolink:Gene . OMIM:608546 a owl:Class ; @@ -253931,7 +263415,6 @@ OMIM:608546 a owl:Class ; PMID:8989456 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:268305 ; - oboInOwl:hasDbXref UMLS:C1825045 ; oboInOwl:hasExactSynonym "EIF4A3", "dead/h box 48", "eukaryotic translation initiation factor 4a, isoform 3", @@ -253940,7 +263423,9 @@ OMIM:608546 a owl:Class ; "nuk34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9775 ; - skos:exactMatch HGNC_symbol:EIF4A3 ; + skos:exactMatch UMLS:C1825045, + HGNC:18683, + HGNC_symbol:EIF4A3 ; biolink:category biolink:Gene . OMIM:608547 a owl:Class ; @@ -253963,14 +263448,15 @@ OMIM:608547 a owl:Class ; PMID:20555338 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:122700 ; - oboInOwl:hasDbXref UMLS:C1428184 ; oboInOwl:hasExactSynonym "VKORC1", "flj00289", "vitamin k epoxide reductase complex, subunit 1", "vkor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79001 ; - skos:exactMatch HGNC_symbol:VKORC1 ; + skos:exactMatch UMLS:C1428184, + HGNC:23663, + HGNC_symbol:VKORC1 ; biolink:category biolink:Gene . OMIM:608548 a owl:Class ; @@ -253984,14 +263470,15 @@ OMIM:608548 a owl:Class ; PMID:9715689 ; RO:0002525 CHR:9606chr1q25.3-q31.1 ; RO:0003303 OMIM:603075 ; - oboInOwl:hasDbXref UMLS:C1837877 ; oboInOwl:hasExactSynonym "HMCN1", "fibl6", "fibulin 6", "hemicentin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83872 ; - skos:exactMatch HGNC_symbol:HMCN1 ; + skos:exactMatch UMLS:C1837877, + HGNC:19194, + HGNC_symbol:HMCN1 ; biolink:category biolink:Gene . OMIM:608549 a owl:Class ; @@ -254003,13 +263490,14 @@ OMIM:608549 a owl:Class ; PMID:29945969 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:616683 ; - oboInOwl:hasDbXref UMLS:C1422772 ; oboInOwl:hasExactSynonym "VPS11", "vacuolar protein sorting 11, yeast, homolog of", "vps11 core subunit of corvet and hops complexes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55823 ; - skos:exactMatch HGNC_symbol:VPS11 ; + skos:exactMatch UMLS:C1422772, + HGNC:14583, + HGNC_symbol:VPS11 ; biolink:category biolink:Gene . OMIM:608550 a owl:Class ; @@ -254017,27 +263505,29 @@ OMIM:608550 a owl:Class ; IAO:0000142 PMID:11250079 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:619291 ; - oboInOwl:hasDbXref UMLS:C1422773 ; oboInOwl:hasExactSynonym "VPS16", "vacuolar protein sorting 16, yeast, homolog of", "vps16 core subunit of corvet and hops complexes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64601 ; - skos:exactMatch HGNC_symbol:VPS16 ; + skos:exactMatch UMLS:C1422773, + HGNC:14584, + HGNC_symbol:VPS16 ; biolink:category biolink:Gene . OMIM:608551 a owl:Class ; rdfs:label "VPS18" ; IAO:0000142 PMID:10819331, PMID:11250079 ; - oboInOwl:hasDbXref UMLS:C1423875 ; oboInOwl:hasExactSynonym "VPS18", "kiaa1475", "vacuolar protein sorting 18, yeast, homolog of", "vps18 core subunit of corvet and hops complexes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57617 ; - skos:exactMatch HGNC_symbol:VPS18 ; + skos:exactMatch UMLS:C1423875, + HGNC:15972, + HGNC_symbol:VPS18 ; biolink:category biolink:Gene . OMIM:608552 a owl:Class ; @@ -254053,13 +263543,14 @@ OMIM:608552 a owl:Class ; PMID:8151641 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:208085 ; - oboInOwl:hasDbXref UMLS:C1421465 ; oboInOwl:hasExactSynonym "VPS33B", "vacuolar protein sorting 33, yeast, homolog of, B", "vps33b late endosome and lysosome associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26276 ; - skos:exactMatch HGNC_symbol:VPS33B ; + skos:exactMatch UMLS:C1421465, + HGNC:12712, + HGNC_symbol:VPS33B ; biolink:category biolink:Gene . OMIM:608553 a owl:Class ; @@ -254069,10 +263560,10 @@ OMIM:608553 a owl:Class ; PMID:22842227, PMID:22842229, PMID:22842230 ; - oboInOwl:hasDbXref UMLS:C1837873 ; oboInOwl:hasExactSynonym "LCA9", "leber congenital amaurosis 9" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C1837873 ; biolink:category biolink:Disease . OMIM:608554 a owl:Class ; @@ -254081,13 +263572,14 @@ OMIM:608554 a owl:Class ; PMID:18815592, PMID:22194569, PMID:24201284 ; - oboInOwl:hasDbXref UMLS:C1826459 ; oboInOwl:hasExactSynonym "NPAS4", "hlh-pas transcription factor nxf", "neuronal pas domain protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266743 ; - skos:exactMatch HGNC_symbol:NPAS4 ; + skos:exactMatch UMLS:C1826459, + HGNC:18983, + HGNC_symbol:NPAS4 ; biolink:category biolink:Gene . OMIM:608555 a owl:Class ; @@ -254098,20 +263590,21 @@ OMIM:608555 a owl:Class ; PMID:32917887 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:619127 ; - oboInOwl:hasDbXref UMLS:C1417489, - UMLS:C5436867 ; oboInOwl:hasExactSynonym "MTX2", "metaxin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10651 ; - skos:exactMatch HGNC_symbol:MTX2 ; + skos:exactMatch UMLS:C1417489, + UMLS:C5436867, + HGNC:7506, + HGNC_symbol:MTX2 ; biolink:category biolink:Gene . OMIM:608556 a owl:Class ; rdfs:label "legionnaire disease, susceptibility to" ; IAO:0000142 PMID:14623910 ; - oboInOwl:hasDbXref UMLS:C1837872 ; oboInOwl:hasExactSynonym "legionnaire disease, susceptibility to" ; + skos:exactMatch UMLS:C1837872 ; biolink:category biolink:Disease . OMIM:608560 a owl:Class ; @@ -254119,7 +263612,6 @@ OMIM:608560 a owl:Class ; IAO:0000142 PMID:11829752, PMID:12077138, PMID:12473645 ; - oboInOwl:hasDbXref UMLS:C1425659 ; oboInOwl:hasExactSynonym "STAB1", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor 1", "kiaa0246", @@ -254127,7 +263619,9 @@ OMIM:608560 a owl:Class ; "stabilin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23166 ; - skos:exactMatch HGNC_symbol:STAB1 ; + skos:exactMatch UMLS:C1425659, + HGNC:18628, + HGNC_symbol:STAB1 ; biolink:category biolink:Gene . OMIM:608561 a owl:Class ; @@ -254135,14 +263629,15 @@ OMIM:608561 a owl:Class ; IAO:0000142 PMID:11829752, PMID:12077138, PMID:12473645 ; - oboInOwl:hasDbXref UMLS:C1425660 ; oboInOwl:hasExactSynonym "STAB2", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor 2", "hepatic hyaluronan clearance receptor", "stabilin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55576 ; - skos:exactMatch HGNC_symbol:STAB2 ; + skos:exactMatch UMLS:C1425660, + HGNC:18629, + HGNC_symbol:STAB2 ; biolink:category biolink:Gene . OMIM:608563 a owl:Class ; @@ -254156,7 +263651,6 @@ OMIM:608564 a owl:Class ; PMID:10896954, PMID:11251077, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1333677 ; oboInOwl:hasExactSynonym "GIT2", "arf gtpase-activating protein git2", "cool-interacting tyrosine-phosphorylated protein 2", @@ -254167,14 +263661,15 @@ OMIM:608564 a owl:Class ; "kiaa0148" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9815 ; - skos:exactMatch HGNC_symbol:GIT2 ; + skos:exactMatch UMLS:C1333677, + HGNC:4273, + HGNC_symbol:GIT2 ; biolink:category biolink:Gene . OMIM:608566 a owl:Class ; rdfs:label "MUC15" ; IAO:0000142 PMID:12047385, PMID:6108213 ; - oboInOwl:hasDbXref UMLS:C1423085 ; oboInOwl:hasExactSynonym "MUC15", "component 2", "glycoprotein 4", @@ -254184,7 +263679,9 @@ OMIM:608566 a owl:Class ; "pasiii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143662 ; - skos:exactMatch HGNC_symbol:MUC15 ; + skos:exactMatch UMLS:C1423085, + HGNC:14956, + HGNC_symbol:MUC15 ; biolink:category biolink:Gene . OMIM:608567 a owl:Class ; @@ -254194,7 +263691,6 @@ OMIM:608567 a owl:Class ; PMID:5093256, PMID:6029120, PMID:6702657 ; - oboInOwl:hasDbXref UMLS:C1837845 ; oboInOwl:hasExactSynonym "SSS1", "sick sinus syndrome 1", "sick sinus syndrome, congenital", @@ -254202,6 +263698,7 @@ OMIM:608567 a owl:Class ; "sinus node disease, familial, autosomal recessive", "sinus rhythm, congenital absence of" ; rdfs:subClassOf OMIMPS:608567 ; + skos:exactMatch UMLS:C1837845 ; biolink:category biolink:Disease . OMIM:608568 a owl:Class ; @@ -254214,7 +263711,6 @@ OMIM:608568 a owl:Class ; PMID:21480433 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:600652 ; - oboInOwl:hasDbXref UMLS:C1427991 ; oboInOwl:hasExactSynonym "MYH14", "kiaa2034", "myosin, heavy chain 14, nonmuscle", @@ -254222,38 +263718,41 @@ OMIM:608568 a owl:Class ; "nonmuscle myosin heavy chain 2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79784 ; - skos:exactMatch HGNC_symbol:MYH14 ; + skos:exactMatch UMLS:C1427991, + HGNC:23212, + HGNC_symbol:MYH14 ; biolink:category biolink:Gene . OMIM:608569 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1o" ; IAO:0000142 PMID:15034580 ; - oboInOwl:hasDbXref UMLS:C1837839, - ORPHA:154 ; oboInOwl:hasExactSynonym "CMD1O", "cardiomyopathy, dilated, 1o", "cardiomyopathy, dilated, with ventricular tachycardia" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1837839, + ORPHA:154 ; biolink:category biolink:Disease . OMIM:608570 a owl:Class ; rdfs:label "AHNAK2" ; IAO:0000142 PMID:15007166 ; - oboInOwl:hasDbXref UMLS:C1426709 ; oboInOwl:hasExactSynonym "AHNAK2", "ahnak nucleoprotein 2", "chromosome 14 open reading frame 78", "kiaa2019" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113146 ; - skos:exactMatch HGNC_symbol:AHNAK2 ; + skos:exactMatch UMLS:C1426709, + HGNC:20125, + HGNC_symbol:AHNAK2 ; biolink:category biolink:Gene . OMIM:608571 a owl:Class ; rdfs:label "ulnar/fibular ray defect and brachydactyly" ; IAO:0000142 PMID:14564152 ; - oboInOwl:hasDbXref UMLS:C1837830 ; - oboInOwl:hasExactSynonym "ulnar/fibular ray defect and brachydactyly" . + oboInOwl:hasExactSynonym "ulnar/fibular ray defect and brachydactyly" ; + skos:exactMatch UMLS:C1837830 . OMIM:608573 a owl:Class ; IAO:0100001 OMIM:605096 ; @@ -254264,14 +263763,15 @@ OMIM:608574 a owl:Class ; IAO:0000142 PMID:14651845, PMID:15947784, PMID:16236351 ; - oboInOwl:hasDbXref UMLS:C1425282 ; oboInOwl:hasExactSynonym "EMSY", "chromosome 11 open reading frame 30", "emsy gene", "emsy transcriptional repressor, brca2 interacting" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56946 ; - skos:exactMatch HGNC_symbol:EMSY ; + skos:exactMatch UMLS:C1425282, + HGNC:18071, + HGNC_symbol:EMSY ; biolink:category biolink:Gene . OMIM:608575 a owl:Class ; @@ -254280,14 +263780,15 @@ OMIM:608575 a owl:Class ; PMID:11710234, PMID:14661078, PMID:9667000 ; - oboInOwl:hasDbXref UMLS:C1422637 ; oboInOwl:hasExactSynonym "RDH8", "retinol dehydrogenase 8", "retinol dehydrogenase, all-trans", "retinol dehydrogenase, photoreceptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50700 ; - skos:exactMatch HGNC_symbol:RDH8 ; + skos:exactMatch UMLS:C1422637, + HGNC:14423, + HGNC_symbol:RDH8 ; biolink:category biolink:Gene . OMIM:608576 a owl:Class ; @@ -254301,7 +263802,6 @@ OMIM:608576 a owl:Class ; PMID:29867222 ; RO:0002525 CHR:9606chr8q22.3 ; RO:0003303 OMIM:616029 ; - oboInOwl:hasDbXref UMLS:C1837820 ; oboInOwl:hasExactSynonym "GRHL2", "brother of grainyhead", "grainyhead, drosophila, homolog of, 2", @@ -254309,20 +263809,23 @@ OMIM:608576 a owl:Class ; "transcription factor cp2-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79977 ; - skos:exactMatch HGNC_symbol:GRHL2 ; + skos:exactMatch UMLS:C1837820, + HGNC:2799, + HGNC_symbol:GRHL2 ; biolink:category biolink:Gene . OMIM:608577 a owl:Class ; rdfs:label "CHURC1" ; IAO:0000142 PMID:14651851 ; - oboInOwl:hasDbXref UMLS:C1538463 ; oboInOwl:hasExactSynonym "CHURC1", "chromosome 14 open reading frame 52", "churchill", "churchill domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91612 ; - skos:exactMatch HGNC_symbol:CHURC1 ; + skos:exactMatch UMLS:C1538463, + HGNC:20099, + HGNC_symbol:CHURC1 ; biolink:category biolink:Gene . OMIM:608578 a owl:Class ; @@ -254341,16 +263844,17 @@ OMIM:608581 a owl:Class ; PMID:31833436 ; RO:0002525 CHR:9606chr8p23.1 ; RO:0003303 OMIM:618826 ; - oboInOwl:hasDbXref UMLS:C1423850, - UMLS:C2986382, - UMLS:C3150833, - UMLS:C4017164, - UMLS:C5394208 ; oboInOwl:hasExactSynonym "RP1L1", "rp1-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94137 ; - skos:exactMatch HGNC_symbol:RP1L1 ; + skos:exactMatch UMLS:C1423850, + UMLS:C2986382, + UMLS:C3150833, + UMLS:C4017164, + UMLS:C5394208, + HGNC:15946, + HGNC_symbol:RP1L1 ; biolink:category biolink:Gene . OMIM:608582 a owl:Class ; @@ -254362,14 +263866,15 @@ OMIM:608582 a owl:Class ; PMID:18834857, PMID:19503073, PMID:25625207 ; - oboInOwl:hasDbXref UMLS:C1427021 ; oboInOwl:hasExactSynonym "EGFL7", "epidermal growth factor-like 7", "vascular endothelial statin", "ve-statin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51162 ; - skos:exactMatch HGNC_symbol:EGFL7 ; + skos:exactMatch UMLS:C1427021, + HGNC:20594, + HGNC_symbol:EGFL7 ; biolink:category biolink:Gene . OMIM:608585 a owl:Class ; @@ -254377,22 +263882,23 @@ OMIM:608585 a owl:Class ; IAO:0000142 PMID:15083696, PMID:1789287, PMID:3389127 ; - oboInOwl:hasDbXref UMLS:C1837810 ; oboInOwl:hasExactSynonym "brachial palsy, familial congenital" ; + skos:exactMatch UMLS:C1837810 ; biolink:category biolink:Disease . OMIM:608587 a owl:Class ; rdfs:label "GHDC" ; IAO:0000142 PMID:11161808, PMID:11735219 ; - oboInOwl:hasDbXref UMLS:C1825345 ; oboInOwl:hasExactSynonym "GHDC", "d11lgp1", "gh3 domain-containing protein", "lgp1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84514 ; - skos:exactMatch HGNC_symbol:GHDC ; + skos:exactMatch UMLS:C1825345, + HGNC:24438, + HGNC_symbol:GHDC ; biolink:category biolink:Gene . OMIM:608588 a owl:Class ; @@ -254401,7 +263907,6 @@ OMIM:608588 a owl:Class ; PMID:11735219, PMID:17190814, PMID:17475874 ; - oboInOwl:hasDbXref UMLS:C1837808 ; oboInOwl:hasExactSynonym "DHX58", "d11lgp2", "dexh-box helicase 58", @@ -254409,19 +263914,22 @@ OMIM:608588 a owl:Class ; "lgp2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79132 ; - skos:exactMatch HGNC_symbol:DHX58 ; + skos:exactMatch UMLS:C1837808, + HGNC:29517, + HGNC_symbol:DHX58 ; biolink:category biolink:Gene . OMIM:608589 a owl:Class ; rdfs:label "SLAMF9" ; IAO:0000142 PMID:11685473 ; - oboInOwl:hasDbXref UMLS:C1425511 ; oboInOwl:hasExactSynonym "SLAMF9", "cd2 family, member 10", "slam family, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89886 ; - skos:exactMatch HGNC_symbol:SLAMF9 ; + skos:exactMatch UMLS:C1425511, + HGNC:18430, + HGNC_symbol:SLAMF9 ; biolink:category biolink:Gene . OMIM:608590 a owl:Class ; @@ -254439,7 +263947,6 @@ OMIM:608592 a owl:Class ; PMID:15681389, PMID:18066065, PMID:9179494 ; - oboInOwl:hasDbXref UMLS:C1424618 ; oboInOwl:hasExactSynonym "CTDSPL", "ctd small phosphatase-like", "ctdsp-like", @@ -254448,7 +263955,9 @@ OMIM:608592 a owl:Class ; "small ctd phosphatase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10217 ; - skos:exactMatch HGNC_symbol:CTDSPL ; + skos:exactMatch UMLS:C1424618, + HGNC:16890, + HGNC_symbol:CTDSPL ; biolink:category biolink:Gene . OMIM:608593 a owl:Class ; @@ -254463,14 +263972,15 @@ OMIM:608593 a owl:Class ; PMID:29483359 ; RO:0002525 CHR:9606chr1q31.3 ; RO:0003303 OMIM:614809 ; - oboInOwl:hasDbXref UMLS:C1538446 ; oboInOwl:hasExactSynonym "CFHR5", "cfhl5", "complement factor h-related 5", "factor h-related gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81494 ; - skos:exactMatch HGNC_symbol:CFHR5 ; + skos:exactMatch UMLS:C1538446, + HGNC:24668, + HGNC_symbol:CFHR5 ; biolink:category biolink:Gene . OMIM:608595 a owl:Class ; @@ -254482,7 +263992,6 @@ OMIM:608595 a owl:Class ; PMID:18305139 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:608584 ; - oboInOwl:hasDbXref UMLS:C1837790 ; oboInOwl:hasExactSynonym "NPSR1", "g protein-coupled receptor 154", "g protein-coupled receptor for asthma susceptibility", @@ -254491,43 +264000,48 @@ OMIM:608595 a owl:Class ; "vasopressin receptor-related receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387129 ; - skos:exactMatch HGNC_symbol:NPSR1 ; + skos:exactMatch UMLS:C1837790, + HGNC:23631, + HGNC_symbol:NPSR1 ; biolink:category biolink:Gene . OMIM:608596 a owl:Class ; rdfs:label "NPSRAS1" ; IAO:0000142 PMID:15073379 ; - oboInOwl:hasDbXref UMLS:C1837789 ; oboInOwl:hasExactSynonym "NPSRAS1", "asthma-associated alternatively spliced gene 1", "npsr1 antisense RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:404744 ; - skos:exactMatch HGNC_symbol:NPSR1-AS1 ; + skos:exactMatch UMLS:C1837789, + HGNC:22128, + HGNC_symbol:NPSR1-AS1 ; biolink:category biolink:Gene . OMIM:608597 a owl:Class ; rdfs:label "NEURL2" ; IAO:0000142 PMID:14960280 ; - oboInOwl:hasDbXref UMLS:C1424033 ; oboInOwl:hasExactSynonym "NEURL2", "neuralized e3 ubiquitin protein ligase 2", "neuralized-like 2", "ozz" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140825 ; - skos:exactMatch HGNC_symbol:NEURL2 ; + skos:exactMatch UMLS:C1424033, + HGNC:16156, + HGNC_symbol:NEURL2 ; biolink:category biolink:Gene . OMIM:608598 a owl:Class ; rdfs:label "CASC2" ; IAO:0000142 PMID:15024726 ; - oboInOwl:hasDbXref UMLS:C1427789 ; oboInOwl:hasExactSynonym "CASC2", "cancer susceptibility candidate 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255082 ; - skos:exactMatch HGNC_symbol:CASC2 ; + skos:exactMatch UMLS:C1427789, + HGNC:22933, + HGNC_symbol:CASC2 ; biolink:category biolink:Gene . OMIM:608599 a owl:Class ; @@ -254537,13 +264051,14 @@ OMIM:608599 a owl:Class ; PMID:12364336, PMID:12393859, PMID:15024726 ; - oboInOwl:hasDbXref UMLS:C1538765 ; oboInOwl:hasExactSynonym "RAB11FIP2", "kiaa0941", "rab11 family-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22841 ; - skos:exactMatch HGNC_symbol:RAB11FIP2 ; + skos:exactMatch UMLS:C1538765, + HGNC:29152, + HGNC_symbol:RAB11FIP2 ; biolink:category biolink:Gene . OMIM:608600 a owl:Class ; @@ -254552,36 +264067,38 @@ OMIM:608600 a owl:Class ; PMID:170190, PMID:3712389, PMID:8530581 ; - oboInOwl:hasDbXref UMLS:C1720859 ; oboInOwl:hasExactSynonym "FPLD1", "lipodystrophy, familial partial, iia 1", "lipodystrophy, familial partial, kobberling iia" ; rdfs:subClassOf OMIMPS:151660 ; + skos:exactMatch UMLS:C1720859 ; biolink:category biolink:Disease . OMIM:608601 a owl:Class ; rdfs:label "FBS1" ; IAO:0000142 PMID:9809749 ; - oboInOwl:hasDbXref UMLS:C1426940 ; oboInOwl:hasExactSynonym "FBS1", "fibrosin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64319 ; - skos:exactMatch HGNC_symbol:FBRS ; + skos:exactMatch UMLS:C1426940, + HGNC:20442, + HGNC_symbol:FBRS ; biolink:category biolink:Gene . OMIM:608602 a owl:Class ; rdfs:label "SP140" ; IAO:0000142 PMID:8695863, PMID:8910577 ; - oboInOwl:hasDbXref UMLS:C1424769 ; oboInOwl:hasExactSynonym "SP140", "lymphoid-restricted sp100 homolog", "nuclear body protein sp140", "speckled, 140-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11262 ; - skos:exactMatch HGNC_symbol:SP140 ; + skos:exactMatch UMLS:C1424769, + HGNC:17133, + HGNC_symbol:SP140 ; biolink:category biolink:Gene . OMIM:608603 a owl:Class ; @@ -254591,27 +264108,29 @@ OMIM:608603 a owl:Class ; PMID:27616481 ; RO:0002525 CHR:9606chr15q21.2 ; RO:0003303 OMIM:617194 ; - oboInOwl:hasDbXref UMLS:C1825367 ; oboInOwl:hasExactSynonym "GLDN", "cancer-related gene, liver, 2", "gliomedin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342035 ; - skos:exactMatch HGNC_symbol:GLDN ; + skos:exactMatch UMLS:C1825367, + HGNC:29514, + HGNC_symbol:GLDN ; biolink:category biolink:Gene . OMIM:608604 a owl:Class ; rdfs:label "RBP7" ; IAO:0000142 PMID:12177003, PMID:15870066 ; - oboInOwl:hasDbXref UMLS:C1428959 ; oboInOwl:hasExactSynonym "RBP7", "cellular retinol-binding protein 4", "crbpiv", "retinol-binding protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116362 ; - skos:exactMatch HGNC_symbol:RBP7 ; + skos:exactMatch UMLS:C1428959, + HGNC:30316, + HGNC_symbol:RBP7 ; biolink:category biolink:Gene . OMIM:608605 a owl:Class ; @@ -254621,8 +264140,6 @@ OMIM:608605 a owl:Class ; PMID:23842455 ; RO:0002525 CHR:9606chr3p23 ; RO:0003303 OMIM:615597 ; - oboInOwl:hasDbXref UMLS:C1823139, - UMLS:C2931007 ; oboInOwl:hasExactSynonym "STT3B", "oligosaccharyltransferase complex, catalytic subunit stt3b", "source of immunodominant major histocompatibility complex-associated peptides", @@ -254630,7 +264147,10 @@ OMIM:608605 a owl:Class ; "stt3, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201595 ; - skos:exactMatch HGNC_symbol:STT3B ; + skos:exactMatch UMLS:C1823139, + UMLS:C2931007, + HGNC:30611, + HGNC_symbol:STT3B ; biolink:category biolink:Gene . OMIM:608606 a owl:Class ; @@ -254639,19 +264159,19 @@ OMIM:608606 a owl:Class ; PMID:11784080, PMID:14516699, PMID:9073453 ; - oboInOwl:hasDbXref UMLS:C1826425 ; oboInOwl:hasExactSynonym "BHLHA15", "basic helix-loop-helix family, member a15", "basic helix-loop-helix protein mist1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:168620 ; - skos:exactMatch HGNC_symbol:BHLHA15 ; + skos:exactMatch UMLS:C1826425, + HGNC:22265, + HGNC_symbol:BHLHA15 ; biolink:category biolink:Gene . OMIM:608608 a owl:Class ; rdfs:label "PPIAL4E" ; IAO:0000142 PMID:11948409 ; - oboInOwl:hasDbXref UMLS:C1538708 ; oboInOwl:hasExactSynonym "PPIAL4E", "chromosome 1 amplified sequence 2", "coas2", @@ -254660,19 +264180,22 @@ OMIM:608608 a owl:Class ; "ppia-like protein 4e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:730262 ; - skos:exactMatch HGNC_symbol:PPIAL4E ; + skos:exactMatch UMLS:C1538708, + HGNC:33997, + HGNC_symbol:PPIAL4E ; biolink:category biolink:Gene . OMIM:608609 a owl:Class ; rdfs:label "C1ORF152" ; IAO:0000142 PMID:11948409 ; - oboInOwl:hasDbXref UMLS:C1823771 ; oboInOwl:hasExactSynonym "C1ORF152", "chromosome 1 amplified sequence 3", "chromosome 1 open reading frame 152" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:767846 ; - skos:exactMatch HGNC_symbol:PFN1P2 ; + skos:exactMatch UMLS:C1823771, + HGNC:24298, + HGNC_symbol:PFN1P2 ; biolink:category biolink:Gene . OMIM:608610 a owl:Class ; @@ -254683,13 +264206,14 @@ OMIM:608610 a owl:Class ; PMID:17968323, PMID:18296639, PMID:18548003 ; - oboInOwl:hasDbXref UMLS:C1418404 ; oboInOwl:hasExactSynonym "PDCD4", "neoplastic transformation inhibitor", "programmed cell death 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27250 ; - skos:exactMatch HGNC_symbol:PDCD4 ; + skos:exactMatch UMLS:C1418404, + HGNC:8763, + HGNC_symbol:PDCD4 ; biolink:category biolink:Gene . OMIM:608612 a owl:Class ; @@ -254700,13 +264224,13 @@ OMIM:608612 a owl:Class ; PMID:1642279, PMID:18435794, PMID:20814950 ; - oboInOwl:hasDbXref UMLS:C1837756, - ORPHA:2457, - ORPHA:90154 ; oboInOwl:hasExactSynonym "MADB", "lipodystrophy, iia b, associated with mandibuloacral dysplasia", "mandibuloacral dysplasia with iia B lipodystrophy" ; rdfs:subClassOf OMIMPS:248370 ; + skos:exactMatch UMLS:C1837756, + ORPHA:2457, + ORPHA:90154 ; biolink:category biolink:Disease . OMIM:608613 a owl:Class ; @@ -254716,14 +264240,15 @@ OMIM:608613 a owl:Class ; PMID:18156176, PMID:19913006, PMID:25344255 ; - oboInOwl:hasDbXref UMLS:C1422729 ; oboInOwl:hasExactSynonym "SP6", "epiprofin", "kruppel-like factor 14", "transcription factor sp6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80320 ; - skos:exactMatch HGNC_symbol:SP6 ; + skos:exactMatch UMLS:C1422729, + HGNC:14530, + HGNC_symbol:SP6 ; biolink:category biolink:Gene . OMIM:608614 a owl:Class ; @@ -254735,12 +264260,13 @@ OMIM:608614 a owl:Class ; PMID:23661369 ; RO:0002525 CHR:9606chr4q35.1-q35.2 ; RO:0003303 OMIM:210370 ; - oboInOwl:hasDbXref UMLS:C1539212 ; oboInOwl:hasExactSynonym "CYP4V2", "cytochrome p450, family 4, subfamily v, polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285440 ; - skos:exactMatch HGNC_symbol:CYP4V2 ; + skos:exactMatch UMLS:C1539212, + HGNC:23198, + HGNC_symbol:CYP4V2 ; biolink:category biolink:Gene . OMIM:608616 a owl:Class ; @@ -254749,7 +264275,6 @@ OMIM:608616 a owl:Class ; PMID:11448995, PMID:11814696, PMID:14550291 ; - oboInOwl:hasDbXref UMLS:C1423682 ; oboInOwl:hasExactSynonym "OBSCN", "kiaa1556", "kiaa1639", @@ -254758,40 +264283,45 @@ OMIM:608616 a owl:Class ; "obscurin-rhogef" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84033 ; - skos:exactMatch HGNC_symbol:OBSCN ; + skos:exactMatch UMLS:C1423682, + HGNC:15719, + HGNC_symbol:OBSCN ; biolink:category biolink:Gene . OMIM:608617 a owl:Class ; rdfs:label "FAM3B" ; IAO:0000142 PMID:12160727 ; - oboInOwl:hasDbXref UMLS:C1412940 ; oboInOwl:hasExactSynonym "FAM3B", "family with sequence similarity 3, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54097 ; - skos:exactMatch HGNC_symbol:FAM3B ; + skos:exactMatch UMLS:C1412940, + HGNC:1253, + HGNC_symbol:FAM3B ; biolink:category biolink:Gene . OMIM:608618 a owl:Class ; rdfs:label "FAM3C" ; IAO:0000142 PMID:12160727 ; - oboInOwl:hasDbXref UMLS:C1425690 ; oboInOwl:hasExactSynonym "FAM3C", "family with sequence similarity 3, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10447 ; - skos:exactMatch HGNC_symbol:FAM3C ; + skos:exactMatch UMLS:C1425690, + HGNC:18664, + HGNC_symbol:FAM3C ; biolink:category biolink:Gene . OMIM:608619 a owl:Class ; rdfs:label "FAM3D" ; IAO:0000142 PMID:12160727 ; - oboInOwl:hasDbXref UMLS:C1425691 ; oboInOwl:hasExactSynonym "FAM3D", "family with sequence similarity 3, member d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131177 ; - skos:exactMatch HGNC_symbol:FAM3D ; + skos:exactMatch UMLS:C1425691, + HGNC:18665, + HGNC_symbol:FAM3D ; biolink:category biolink:Gene . OMIM:608620 a owl:Class ; @@ -254805,13 +264335,14 @@ OMIM:608621 a owl:Class ; PMID:12393185, PMID:7525387, PMID:8688458 ; - oboInOwl:hasDbXref UMLS:C1420335 ; oboInOwl:hasExactSynonym "SPA17", "sp17", "sperm autoantigenic protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53340 ; - skos:exactMatch HGNC_symbol:SPA17 ; + skos:exactMatch UMLS:C1420335, + HGNC:11210, + HGNC_symbol:SPA17 ; biolink:category biolink:Gene . OMIM:608623 a owl:Class ; @@ -254821,8 +264352,8 @@ OMIM:608623 a owl:Class ; OMIM:608624 a owl:Class ; rdfs:label "midface hypoplasia, obesity, developmental delay, and neonatal hypotonia" ; IAO:0000142 PMID:12514359 ; - oboInOwl:hasDbXref UMLS:C1837730 ; - oboInOwl:hasExactSynonym "midface hypoplasia, obesity, developmental delay, and neonatal hypotonia" . + oboInOwl:hasExactSynonym "midface hypoplasia, obesity, developmental delay, and neonatal hypotonia" ; + skos:exactMatch UMLS:C1837730 . OMIM:608625 a owl:Class ; rdfs:label "PTRH2" ; @@ -254836,13 +264367,14 @@ OMIM:608625 a owl:Class ; PMID:31057140 ; RO:0002525 CHR:9606chr17q23.1 ; RO:0003303 OMIM:616263 ; - oboInOwl:hasDbXref UMLS:C1826738 ; oboInOwl:hasExactSynonym "PTRH2", "bcl2 inhibitor of transcription 1", "peptidyl-trna hydrolase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51651 ; - skos:exactMatch HGNC_symbol:PTRH2 ; + skos:exactMatch UMLS:C1826738, + HGNC:24265, + HGNC_symbol:PTRH2 ; biolink:category biolink:Gene . OMIM:608626 a owl:Class ; @@ -254858,14 +264390,15 @@ OMIM:608626 a owl:Class ; PMID:27170158 ; RO:0002525 CHR:9606chr17q23.3 ; RO:0003303 OMIM:611087 ; - oboInOwl:hasDbXref UMLS:C1837729 ; oboInOwl:hasExactSynonym "STRADA", "lyk5", "ste20-related adaptor protein", "ste20-related kinase adaptor alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92335 ; - skos:exactMatch HGNC_symbol:STRADA ; + skos:exactMatch UMLS:C1837729, + HGNC:30172, + HGNC_symbol:STRADA ; biolink:category biolink:Gene . OMIM:608627 a owl:Class ; @@ -254876,10 +264409,10 @@ OMIM:608627 a owl:Class ; PMID:20577002, PMID:20940299, PMID:23771029 ; - oboInOwl:hasDbXref UMLS:C1837728 ; oboInOwl:hasExactSynonym "ALS8", "amyotrophic lateral sclerosis 8" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C1837728 ; biolink:category biolink:Disease . OMIM:608628 a owl:Class ; @@ -254902,7 +264435,6 @@ OMIM:608628 a owl:Class ; PMID:9450851 ; RO:0002525 CHR:9606chr3q26.32 ; RO:0003303 OMIM:602342 ; - oboInOwl:hasDbXref UMLS:C1539940 ; oboInOwl:hasExactSynonym "TBL1XR1", "c21", "ira1, mouse, homolog of", @@ -254911,7 +264443,9 @@ OMIM:608628 a owl:Class ; "transducin-beta-like 1 receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79718 ; - skos:exactMatch HGNC_symbol:TBL1XR1 ; + skos:exactMatch UMLS:C1539940, + HGNC:29529, + HGNC_symbol:TBL1XR1 ; biolink:category biolink:Gene . OMIM:608630 a owl:Class ; @@ -254924,14 +264458,15 @@ OMIM:608630 a owl:Class ; PMID:26586761 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:607313 ; - oboInOwl:hasDbXref UMLS:C1538879 ; oboInOwl:hasExactSynonym "ROBO3", "rb-inhibiting gene 1", "roundabout guidance receptor 3", "roundabout, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64221 ; - skos:exactMatch HGNC_symbol:ROBO3 ; + skos:exactMatch UMLS:C1538879, + HGNC:13433, + HGNC_symbol:ROBO3 ; biolink:category biolink:Gene . OMIM:608632 a owl:Class ; @@ -254943,14 +264478,15 @@ OMIM:608632 a owl:Class ; PMID:17943132, PMID:21278745, PMID:23810380 ; - oboInOwl:hasDbXref UMLS:C1537830 ; oboInOwl:hasExactSynonym "MIR196A1", "micro RNA 196a1", "mirn196a1", "mirna196a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406972 ; - skos:exactMatch HGNC_symbol:MIR196A1 ; + skos:exactMatch UMLS:C1537830, + HGNC:31567, + HGNC_symbol:MIR196A1 ; biolink:category biolink:Gene . OMIM:608633 a owl:Class ; @@ -254965,13 +264501,14 @@ OMIM:608633 a owl:Class ; PMID:24879640, PMID:9915938 ; RO:0002525 CHR:9606chr11q22.3 ; - oboInOwl:hasDbXref UMLS:C1824531 ; oboInOwl:hasExactSynonym "CASP12", "casp12p1", "caspase 12, apoptosis-related cysteine protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506742 ; - skos:exactMatch HGNC_symbol:CASP12 ; + skos:exactMatch UMLS:C1824531, + HGNC:19004, + HGNC_symbol:CASP12 ; biolink:category biolink:Gene . OMIM:608635 a owl:Class ; @@ -254979,13 +264516,14 @@ OMIM:608635 a owl:Class ; IAO:0000142 PMID:10843809, PMID:14690521, PMID:24711647 ; - oboInOwl:hasDbXref UMLS:C1424319 ; oboInOwl:hasExactSynonym "ADAP2", "arfgap with dual pleckstrin homology domains 2", "centaurin, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55803 ; - skos:exactMatch HGNC_symbol:ADAP2 ; + skos:exactMatch UMLS:C1424319, + HGNC:16487, + HGNC_symbol:ADAP2 ; biolink:category biolink:Gene . OMIM:608636 a owl:Class ; @@ -255013,14 +264551,14 @@ OMIM:608636 a owl:Class ; PMID:9106540, PMID:9545097 ; RO:0002525 CHR:9606chr15q11 ; - oboInOwl:hasDbXref UMLS:C1876176, - UMLS:C2675336, - UMLS:C3807826 ; oboInOwl:hasExactSynonym "autism, susceptibility to, 4", "chromosome 15q11-q13 duplication syndrome", "chromosome 15q11.2 duplication syndrome", "duplication 15q11-q13 syndrome" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1876176, + UMLS:C2675336, + UMLS:C3807826 ; biolink:category biolink:Disease . OMIM:608637 a owl:Class ; @@ -255033,47 +264571,50 @@ OMIM:608639 a owl:Class ; PMID:17116893, PMID:17687330, PMID:23913272 ; - oboInOwl:hasDbXref UMLS:C1538671 ; oboInOwl:hasExactSynonym "PLEKHA8", "phosphatidylinositol 4-phosphate adaptor protein 2", "pleckstrin homology domain-containing protein, family a, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84725 ; - skos:exactMatch HGNC_symbol:PLEKHA8 ; + skos:exactMatch UMLS:C1538671, + HGNC:30037, + HGNC_symbol:PLEKHA8 ; biolink:category biolink:Gene . OMIM:608640 a owl:Class ; rdfs:label "ZNF461" ; IAO:0000142 PMID:15004467 ; - oboInOwl:hasDbXref UMLS:C1823978 ; oboInOwl:hasExactSynonym "ZNF461", "giot1, rat, homolog of", "gonadotropin-inducible transcription repressor 1, rat, homolog of", "zinc finger protein 461" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92283 ; - skos:exactMatch HGNC_symbol:ZNF461 ; + skos:exactMatch UMLS:C1823978, + HGNC:21629, + HGNC_symbol:ZNF461 ; biolink:category biolink:Gene . OMIM:608641 a owl:Class ; rdfs:label "deafness, autosomal dominant 28" ; IAO:0000142 PMID:12393799, PMID:23813623 ; - oboInOwl:hasDbXref UMLS:C1837640 ; oboInOwl:hasExactSynonym "DFNA28", "deafness, autosomal dominant 28" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1837640 ; biolink:category biolink:Disease . OMIM:608642 a owl:Class ; rdfs:label "ZADH1" ; IAO:0000142 PMID:15004468 ; - oboInOwl:hasDbXref UMLS:C1426733 ; oboInOwl:hasExactSynonym "ZADH1", "zinc-binding alcohol dehydrogenase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145482 ; - skos:exactMatch HGNC_symbol:PTGR2 ; + skos:exactMatch UMLS:C1426733, + HGNC:20149, + HGNC_symbol:PTGR2 ; biolink:category biolink:Gene . OMIM:608648 a owl:Class ; @@ -255086,13 +264627,14 @@ OMIM:608648 a owl:Class ; PMID:21685914 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:617004 ; - oboInOwl:hasDbXref UMLS:C1427303 ; oboInOwl:hasExactSynonym "SEC63", "sec63 homolog, protein translocation regulator", "sec63, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11231 ; - skos:exactMatch HGNC_symbol:SEC63 ; + skos:exactMatch UMLS:C1427303, + HGNC:21082, + HGNC_symbol:SEC63 ; biolink:category biolink:Gene . OMIM:608650 a owl:Class ; @@ -255101,7 +264643,6 @@ OMIM:608650 a owl:Class ; PMID:15014045, PMID:18936157, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1422013 ; oboInOwl:hasExactSynonym "ULK2", "kiaa0623", "unc51-like autophagy-activating kinase 2", @@ -255109,7 +264650,9 @@ OMIM:608650 a owl:Class ; "unc51.2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9706 ; - skos:exactMatch HGNC_symbol:ULK2 ; + skos:exactMatch UMLS:C1422013, + HGNC:13480, + HGNC_symbol:ULK2 ; biolink:category biolink:Gene . OMIM:608651 a owl:Class ; @@ -255120,7 +264663,6 @@ OMIM:608651 a owl:Class ; PMID:17082449, PMID:18772437, PMID:19197042 ; - oboInOwl:hasDbXref UMLS:C1424637 ; oboInOwl:hasExactSynonym "AGAP1", "arf gtpase-activating protein with gtpase domain, ankyrin repeat, and pleckstrin homology domain 1", "centaurin, gamma-2", @@ -255128,14 +264670,15 @@ OMIM:608651 a owl:Class ; "kiaa1099" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116987 ; - skos:exactMatch HGNC_symbol:AGAP1 ; + skos:exactMatch UMLS:C1424637, + HGNC:16922, + HGNC_symbol:AGAP1 ; biolink:category biolink:Gene . OMIM:608655 a owl:Class ; rdfs:label "GJC1" ; IAO:0000142 PMID:14667880, PMID:7966354 ; - oboInOwl:hasDbXref UMLS:C1415074 ; oboInOwl:hasExactSynonym "GJC1", "connexin 45", "gap junction protein, 45-kd", @@ -255143,7 +264686,9 @@ OMIM:608655 a owl:Class ; "gap junction protein, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10052 ; - skos:exactMatch HGNC_symbol:GJC1 ; + skos:exactMatch UMLS:C1415074, + HGNC:4280, + HGNC_symbol:GJC1 ; biolink:category biolink:Gene . OMIM:608657 a owl:Class ; @@ -255153,12 +264698,13 @@ OMIM:608657 a owl:Class ; PMID:14627710, PMID:18671972, PMID:20720541 ; - oboInOwl:hasDbXref UMLS:C1837594 ; oboInOwl:hasExactSynonym "JDP2", "jun dimerization protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122953 ; - skos:exactMatch HGNC_symbol:JDP2 ; + skos:exactMatch UMLS:C1837594, + HGNC:17546, + HGNC_symbol:JDP2 ; biolink:category biolink:Gene . OMIM:608659 a owl:Class ; @@ -255166,14 +264712,15 @@ OMIM:608659 a owl:Class ; IAO:0000142 PMID:12730221, PMID:12759362, PMID:12759363 ; - oboInOwl:hasDbXref UMLS:C1427843 ; oboInOwl:hasExactSynonym "SENP8", "deneddylase 1", "nedd8-specific protease 1", "sentrin-specific protease family, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123228 ; - skos:exactMatch HGNC_symbol:SENP8 ; + skos:exactMatch UMLS:C1427843, + HGNC:22992, + HGNC_symbol:SENP8 ; biolink:category biolink:Gene . OMIM:608660 a owl:Class ; @@ -255185,23 +264732,25 @@ OMIM:608660 a owl:Class ; PMID:16606821, PMID:16614226, PMID:32322062 ; - oboInOwl:hasDbXref UMLS:C1426946 ; oboInOwl:hasExactSynonym "INSIG2", "insulin-induced gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51141 ; - skos:exactMatch HGNC_symbol:INSIG2 ; + skos:exactMatch UMLS:C1426946, + HGNC:20452, + HGNC_symbol:INSIG2 ; biolink:category biolink:Gene . OMIM:608661 a owl:Class ; rdfs:label "PODN" ; IAO:0000142 PMID:12796502 ; - oboInOwl:hasDbXref UMLS:C1427966 ; oboInOwl:hasExactSynonym "PODN", "podocan" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127435 ; - skos:exactMatch HGNC_symbol:PODN ; + skos:exactMatch UMLS:C1427966, + HGNC:23174, + HGNC_symbol:PODN ; biolink:category biolink:Gene . OMIM:608662 a owl:Class ; @@ -255218,14 +264767,15 @@ OMIM:608662 a owl:Class ; PMID:9673985 ; RO:0002525 CHR:9606chr11p14.3 ; RO:0003303 OMIM:611307 ; - oboInOwl:hasDbXref UMLS:C1428652 ; oboInOwl:hasExactSynonym "ANO5", "anoctamin 5", "gdd1 gene", "transmembrane protein 16e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203859 ; - skos:exactMatch HGNC_symbol:ANO5 ; + skos:exactMatch UMLS:C1428652, + HGNC:27337, + HGNC_symbol:ANO5 ; biolink:category biolink:Gene . OMIM:608663 a owl:Class ; @@ -255235,13 +264785,14 @@ OMIM:608663 a owl:Class ; PMID:7989579 ; RO:0002525 CHR:9606chr12q12 ; RO:0003303 OMIM:262890 ; - oboInOwl:hasDbXref UMLS:C1428459 ; oboInOwl:hasExactSynonym "ANO6", "anoctamin 6", "transmembrane protein 16f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196527 ; - skos:exactMatch HGNC_symbol:ANO6 ; + skos:exactMatch UMLS:C1428459, + HGNC:25240, + HGNC_symbol:ANO6 ; biolink:category biolink:Gene . OMIM:608664 a owl:Class ; @@ -255260,7 +264811,6 @@ OMIM:608665 a owl:Class ; PMID:9345291 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:614324 ; - oboInOwl:hasDbXref UMLS:C1826729 ; oboInOwl:hasExactSynonym "PSMC3IP", "gt198", "hop2, s. cerevisiae, homolog of", @@ -255268,7 +264818,9 @@ OMIM:608665 a owl:Class ; "tbp1-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29893 ; - skos:exactMatch HGNC_symbol:PSMC3IP ; + skos:exactMatch UMLS:C1826729, + HGNC:17928, + HGNC_symbol:PSMC3IP ; biolink:category biolink:Gene . OMIM:608666 a owl:Class ; @@ -255282,13 +264834,14 @@ OMIM:608666 a owl:Class ; PMID:9090381 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:614873 ; - oboInOwl:hasDbXref UMLS:C1427818 ; oboInOwl:hasExactSynonym "PEX26", "peroxin 26", "peroxisome biogenesis factor 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55670 ; - skos:exactMatch HGNC_symbol:PEX26 ; + skos:exactMatch UMLS:C1427818, + HGNC:22965, + HGNC_symbol:PEX26 ; biolink:category biolink:Gene . OMIM:608667 a owl:Class ; @@ -255313,8 +264866,6 @@ OMIM:608667 a owl:Class ; PMID:7554368 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:122470 ; - oboInOwl:hasDbXref UMLS:C1538063, - UMLS:C4551851 ; oboInOwl:hasExactSynonym "NIPBL", "delangin", "nipped-b, drosophila, homolog of", @@ -255322,7 +264873,10 @@ OMIM:608667 a owl:Class ; "sister chromatid cohesion 2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25836 ; - skos:exactMatch HGNC_symbol:NIPBL ; + skos:exactMatch UMLS:C1538063, + UMLS:C4551851, + HGNC:28862, + HGNC_symbol:NIPBL ; biolink:category biolink:Gene . OMIM:608668 a owl:Class ; @@ -255335,14 +264889,15 @@ OMIM:608668 a owl:Class ; PMID:9663660 ; RO:0002525 CHR:9606chr10p15.3 ; RO:0003303 OMIM:616083 ; - oboInOwl:hasDbXref UMLS:C1538178 ; oboInOwl:hasExactSynonym "ZMYND11", "bone morphogenetic protein receptor-associated molecule 1", "bs69", "zinc finger mynd domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10771 ; - skos:exactMatch HGNC_symbol:ZMYND11 ; + skos:exactMatch UMLS:C1538178, + HGNC:16966, + HGNC_symbol:ZMYND11 ; biolink:category biolink:Gene . OMIM:608669 a owl:Class ; @@ -255360,21 +264915,22 @@ OMIM:608669 a owl:Class ; PMID:31051115 ; RO:0002525 CHR:9606chr9p22.3-p22.2 ; RO:0003303 OMIM:618612 ; - oboInOwl:hasDbXref UMLS:C1538958, - UMLS:C5231427 ; oboInOwl:hasExactSynonym "BNC2", "basonuclin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54796 ; - skos:exactMatch HGNC_symbol:BNC2 ; + skos:exactMatch UMLS:C1538958, + UMLS:C5231427, + HGNC:30988, + HGNC_symbol:BNC2 ; biolink:category biolink:Gene . OMIM:608670 a owl:Class ; rdfs:label "robin sequence with distinctive facial appearance and brachydactyly" ; IAO:0000142 PMID:11337748, PMID:15057987 ; - oboInOwl:hasDbXref UMLS:C1837564 ; - oboInOwl:hasExactSynonym "robin sequence with distinctive facial appearance and brachydactyly" . + oboInOwl:hasExactSynonym "robin sequence with distinctive facial appearance and brachydactyly" ; + skos:exactMatch UMLS:C1837564 . OMIM:608671 a owl:Class ; rdfs:label "DZIP1" ; @@ -255385,9 +264941,6 @@ OMIM:608671 a owl:Class ; PMID:32051257 ; RO:0002525 CHR:9606chr13q32.1 ; RO:0003303 OMIM:619102 ; - oboInOwl:hasDbXref UMLS:C1427196, - UMLS:C1835814, - UMLS:C5436818 ; oboInOwl:hasExactSynonym "DZIP1", "daz-interacting protein 1", "daz-interacting zinc finger protein 1", @@ -255395,47 +264948,53 @@ OMIM:608671 a owl:Class ; "kiaa0996" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22873 ; - skos:exactMatch HGNC_symbol:DZIP1 ; + skos:exactMatch UMLS:C1427196, + UMLS:C1835814, + UMLS:C5436818, + HGNC:20908, + HGNC_symbol:DZIP1 ; biolink:category biolink:Gene . OMIM:608672 a owl:Class ; rdfs:label "DZIP3" ; IAO:0000142 PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1837563 ; oboInOwl:hasExactSynonym "DZIP3", "daz-interacting protein 3", "daz-interacting zinc finger protein 3", "kiaa0675" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9666 ; - skos:exactMatch HGNC_symbol:DZIP3 ; + skos:exactMatch UMLS:C1837563, + HGNC:30938, + HGNC_symbol:DZIP3 ; biolink:category biolink:Gene . OMIM:608673 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2l" ; IAO:0000142 PMID:15021985, PMID:15565283 ; - oboInOwl:hasDbXref UMLS:C1837552 ; oboInOwl:hasExactSynonym "CMT2L", "charcot-marie-tooth disease, axonal, iia 2l", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2l", "charcot-marie-tooth neuropathy, axonal, iia 2l" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1837552 ; biolink:category biolink:Disease . OMIM:608674 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:14551139, PMID:16858696 ; - oboInOwl:hasDbXref UMLS:C1837550, - UMLS:C1837551 ; oboInOwl:hasExactSynonym "een-binding protein", "sh3 domain protein 19", "sh3d19", "sh3d19/runx1 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152503 ; - skos:exactMatch HGNC_symbol:SH3D19 ; + skos:exactMatch UMLS:C1837550, + UMLS:C1837551, + HGNC:30418, + HGNC_symbol:SH3D19 ; biolink:category biolink:Gene . OMIM:608675 a owl:Class ; @@ -255444,27 +265003,29 @@ OMIM:608675 a owl:Class ; PMID:30503518 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:618324 ; - oboInOwl:hasDbXref UMLS:C1428864 ; oboInOwl:hasExactSynonym "FCSK", "fucokinase", "fucose kinase", "l-fucose kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197258 ; - skos:exactMatch HGNC_symbol:FCSK ; + skos:exactMatch UMLS:C1428864, + HGNC:29500, + HGNC_symbol:FCSK ; biolink:category biolink:Gene . OMIM:608676 a owl:Class ; rdfs:label "TXLNA" ; IAO:0000142 PMID:12558796 ; - oboInOwl:hasDbXref UMLS:C1823557 ; oboInOwl:hasExactSynonym "TXLNA", "interleukin 14", "taxilin, alpha", "txln" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200081 ; - skos:exactMatch HGNC_symbol:TXLNA ; + skos:exactMatch UMLS:C1823557, + HGNC:30685, + HGNC_symbol:TXLNA ; biolink:category biolink:Gene . OMIM:608677 a owl:Class ; @@ -255478,7 +265039,6 @@ OMIM:608677 a owl:Class ; PMID:23314057 ; RO:0002525 CHR:9606chr18q11.2 ; RO:0003303 OMIM:615092 ; - oboInOwl:hasDbXref UMLS:C1537692 ; oboInOwl:hasExactSynonym "MIB1", "dapk-interacting protein 1", "kiaa1323", @@ -255487,7 +265047,9 @@ OMIM:608677 a owl:Class ; "mindbomb, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57534 ; - skos:exactMatch HGNC_symbol:MIB1 ; + skos:exactMatch UMLS:C1537692, + HGNC:21086, + HGNC_symbol:MIB1 ; biolink:category biolink:Gene . OMIM:608678 a owl:Class ; @@ -255510,7 +265072,6 @@ OMIM:608678 a owl:Class ; PMID:27568595, PMID:29420261, PMID:32103173 ; - oboInOwl:hasDbXref UMLS:C1825595 ; oboInOwl:hasExactSynonym "IL33", "chromosome 9 open reading frame 26", "il1f11", @@ -255518,7 +265079,9 @@ OMIM:608678 a owl:Class ; "nuclear factor from high endothelial venules" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90865 ; - skos:exactMatch HGNC_symbol:IL33 ; + skos:exactMatch UMLS:C1825595, + HGNC:16028, + HGNC_symbol:IL33 ; biolink:category biolink:Gene . OMIM:608679 a owl:Class ; @@ -255528,14 +265091,15 @@ OMIM:608679 a owl:Class ; PMID:28805828 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:617730 ; - oboInOwl:hasDbXref UMLS:C1540041, - UMLS:C4540270 ; oboInOwl:hasExactSynonym "TP53RK", "p53-related protein kinase", "tp53-regulating kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112858 ; - skos:exactMatch HGNC_symbol:TP53RK ; + skos:exactMatch UMLS:C1540041, + UMLS:C4540270, + HGNC:16197, + HGNC_symbol:TP53RK ; biolink:category biolink:Gene . OMIM:608680 a owl:Class ; @@ -255544,28 +265108,30 @@ OMIM:608680 a owl:Class ; PMID:28805828 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:617731 ; - oboInOwl:hasDbXref UMLS:C1823469 ; oboInOwl:hasExactSynonym "TPRKB", "cgi-121", "prpk-binding protein", "tp53rk-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51002 ; - skos:exactMatch HGNC_symbol:TPRKB ; + skos:exactMatch UMLS:C1823469, + HGNC:24259, + HGNC_symbol:TPRKB ; biolink:category biolink:Gene . OMIM:608682 a owl:Class ; rdfs:label "ADM2" ; IAO:0000142 PMID:14615490, PMID:14706825 ; - oboInOwl:hasDbXref UMLS:C1428749 ; oboInOwl:hasExactSynonym "ADM2", "adrenomedullin 2", "am2", "intermedin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79924 ; - skos:exactMatch HGNC_symbol:ADM2 ; + skos:exactMatch UMLS:C1428749, + HGNC:28898, + HGNC_symbol:ADM2 ; biolink:category biolink:Gene . OMIM:608683 a owl:Class ; @@ -255573,13 +265139,14 @@ OMIM:608683 a owl:Class ; IAO:0000142 PMID:10229662, PMID:12193387, PMID:1280328 ; - oboInOwl:hasDbXref UMLS:C1413777 ; oboInOwl:hasExactSynonym "CST8", "cystatin 8", "cystatin-related protein, epididymis-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10047 ; - skos:exactMatch HGNC_symbol:CST8 ; + skos:exactMatch UMLS:C1413777, + HGNC:2480, + HGNC_symbol:CST8 ; biolink:category biolink:Gene . OMIM:608684 a owl:Class ; @@ -255593,14 +265160,15 @@ OMIM:608684 a owl:Class ; PMID:23665482 ; RO:0002525 CHR:9606chr14q22.1 ; RO:0003303 OMIM:614851 ; - oboInOwl:hasDbXref UMLS:C1423043 ; oboInOwl:hasExactSynonym "NIN", "gsk3b-interacting protein", "kiaa1565", "ninein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51199 ; - skos:exactMatch HGNC_symbol:NIN ; + skos:exactMatch UMLS:C1423043, + HGNC:14906, + HGNC_symbol:NIN ; biolink:category biolink:Gene . OMIM:608685 a owl:Class ; @@ -255608,27 +265176,29 @@ OMIM:608685 a owl:Class ; IAO:0000142 PMID:11564881, PMID:15146193, PMID:16258540 ; - oboInOwl:hasDbXref UMLS:C1822778 ; oboInOwl:hasExactSynonym "SMC1B", "smc1-beta", "structural maintenance of chromosomes 1-like 2", "structural maintenance of chromosomes 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27127 ; - skos:exactMatch HGNC_symbol:SMC1B ; + skos:exactMatch UMLS:C1822778, + HGNC:11112, + HGNC_symbol:SMC1B ; biolink:category biolink:Gene . OMIM:608686 a owl:Class ; rdfs:label "RAB3IP" ; IAO:0000142 PMID:12007189 ; - oboInOwl:hasDbXref UMLS:C1424340 ; oboInOwl:hasExactSynonym "RAB3IP", "rab3a-interacting protein", "rabin3, rat, homolog of", "rabin8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117177 ; - skos:exactMatch HGNC_symbol:RAB3IP ; + skos:exactMatch UMLS:C1424340, + HGNC:16508, + HGNC_symbol:RAB3IP ; biolink:category biolink:Gene . OMIM:608687 a owl:Class ; @@ -255638,13 +265208,13 @@ OMIM:608687 a owl:Class ; PMID:17159129, PMID:18801880 ; RO:0002525 CHR:9606chr11q12 ; - oboInOwl:hasDbXref UMLS:C1837541 ; oboInOwl:hasExactSynonym "SCA20", "chromosome 11q12 duplication syndrome, 260-kb", "spinocerebellar ataxia 20", "spinocerebellar ataxia with dysphonia", "spinocerebellar ataxia with spasmodic cough" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1837541 ; biolink:category biolink:Disease . OMIM:608689 a owl:Class ; @@ -255652,13 +265222,14 @@ OMIM:608689 a owl:Class ; IAO:0000142 PMID:15122512, PMID:29371425, PMID:8787751 ; - oboInOwl:hasDbXref UMLS:C1825968 ; oboInOwl:hasExactSynonym "MESP1", "mesoderm posterior basic helix-loop-helix transcription factor 1", "mesoderm posterior protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55897 ; - skos:exactMatch HGNC_symbol:MESP1 ; + skos:exactMatch UMLS:C1825968, + HGNC:29658, + HGNC_symbol:MESP1 ; biolink:category biolink:Gene . OMIM:608690 a owl:Class ; @@ -255666,14 +265237,15 @@ OMIM:608690 a owl:Class ; IAO:0000142 PMID:10231032, PMID:12007189, PMID:12446711 ; - oboInOwl:hasDbXref UMLS:C1424341 ; oboInOwl:hasExactSynonym "SSX2IP", "afadin dil domain-interacting protein", "kiaa0923", "ssx2-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117178 ; - skos:exactMatch HGNC_symbol:SSX2IP ; + skos:exactMatch UMLS:C1424341, + HGNC:16509, + HGNC_symbol:SSX2IP ; biolink:category biolink:Gene . OMIM:608692 a owl:Class ; @@ -255681,40 +265253,43 @@ OMIM:608692 a owl:Class ; IAO:0000142 PMID:11056056, PMID:11739401, PMID:9129147 ; - oboInOwl:hasDbXref UMLS:C1412803 ; oboInOwl:hasExactSynonym "BLZF1", "basic leucine zipper nuclear factor 1", "golgin 45", "jem1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8548 ; - skos:exactMatch HGNC_symbol:BLZF1 ; + skos:exactMatch UMLS:C1412803, + HGNC:1065, + HGNC_symbol:BLZF1 ; biolink:category biolink:Gene . OMIM:608693 a owl:Class ; rdfs:label "GORASP2" ; IAO:0000142 PMID:10487747, PMID:11739401 ; - oboInOwl:hasDbXref UMLS:C1424984 ; oboInOwl:hasExactSynonym "GORASP2", "golgi reassembly stacking protein 2", "golgi reassembly stacking protein, 55-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26003 ; - skos:exactMatch HGNC_symbol:GORASP2 ; + skos:exactMatch UMLS:C1424984, + HGNC:17500, + HGNC_symbol:GORASP2 ; biolink:category biolink:Gene . OMIM:608694 a owl:Class ; rdfs:label "ZNF622" ; IAO:0000142 PMID:11802789, PMID:12645566 ; - oboInOwl:hasDbXref UMLS:C1538201 ; oboInOwl:hasExactSynonym "ZNF622", "zinc finger protein 622", "zpr9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90441 ; - skos:exactMatch HGNC_symbol:ZNF622 ; + skos:exactMatch UMLS:C1538201, + HGNC:30958, + HGNC_symbol:ZNF622 ; biolink:category biolink:Gene . OMIM:608697 a owl:Class ; @@ -255726,26 +265301,28 @@ OMIM:608697 a owl:Class ; PMID:30474133 ; RO:0002525 CHR:9606chr2p13.3 ; RO:0003303 OMIM:612310 ; - oboInOwl:hasDbXref UMLS:C1825298 ; oboInOwl:hasExactSynonym "FIGLA", "factor 1n germline alpha, mouse, homolog of", "folliculogenesis-specific bhlh transcription factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344018 ; - skos:exactMatch HGNC_symbol:FIGLA ; + skos:exactMatch UMLS:C1825298, + HGNC:24669, + HGNC_symbol:FIGLA ; biolink:category biolink:Gene . OMIM:608698 a owl:Class ; rdfs:label "DCBLD2" ; IAO:0000142 PMID:11447234, PMID:17570516 ; - oboInOwl:hasDbXref UMLS:C1539222 ; oboInOwl:hasExactSynonym "DCBLD2", "discoidin, cub, and lccl domain-containing protein 2", "endothelial and smooth muscle cell-derived neuropilin-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131566 ; - skos:exactMatch HGNC_symbol:DCBLD2 ; + skos:exactMatch UMLS:C1539222, + HGNC:24627, + HGNC_symbol:DCBLD2 ; biolink:category biolink:Gene . OMIM:608699 a owl:Class ; @@ -255758,15 +265335,16 @@ OMIM:608699 a owl:Class ; PMID:30006055 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:608022 ; - oboInOwl:hasDbXref UMLS:C1826624, - UMLS:C1842691 ; oboInOwl:hasExactSynonym "BMPER", "bmp-binding endothelial cell precursor-derived regulator", "bone morphogenetic protein-binding endothelial regulator protein", "crossveinless 2, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:168667 ; - skos:exactMatch HGNC_symbol:BMPER ; + skos:exactMatch UMLS:C1826624, + UMLS:C1842691, + HGNC:24154, + HGNC_symbol:BMPER ; biolink:category biolink:Gene . OMIM:608700 a owl:Class ; @@ -255788,14 +265366,15 @@ OMIM:608700 a owl:Class ; PMID:28209901 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:619260 ; - oboInOwl:hasDbXref UMLS:C1425150 ; oboInOwl:hasExactSynonym "NMNAT1", "nicotinamide nucleotide adenylyltransferase 1", "nmnat", "pyridine nucleotide adenylyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64802 ; - skos:exactMatch HGNC_symbol:NMNAT1 ; + skos:exactMatch UMLS:C1425150, + HGNC:17877, + HGNC_symbol:NMNAT1 ; biolink:category biolink:Gene . OMIM:608701 a owl:Class ; @@ -255806,40 +265385,43 @@ OMIM:608701 a owl:Class ; PMID:14516279, PMID:25271157, PMID:9455484 ; - oboInOwl:hasDbXref UMLS:C1424548 ; oboInOwl:hasExactSynonym "NMNAT2", "kiaa0479", "nicotinamide nucleotide adenylyltransferase 2", "pyridine nucleotide adenylyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23057 ; - skos:exactMatch HGNC_symbol:NMNAT2 ; + skos:exactMatch UMLS:C1424548, + HGNC:16789, + HGNC_symbol:NMNAT2 ; biolink:category biolink:Gene . OMIM:608702 a owl:Class ; rdfs:label "NMNAT3" ; IAO:0000142 PMID:12574164, PMID:24739386 ; - oboInOwl:hasDbXref UMLS:C1427227 ; oboInOwl:hasExactSynonym "NMNAT3", "nicotinamide nucleotide adenylyltransferase 3", "pyridine nucleotide adenylyltransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:349565 ; - skos:exactMatch HGNC_symbol:NMNAT3 ; + skos:exactMatch UMLS:C1427227, + HGNC:20989, + HGNC_symbol:NMNAT3 ; biolink:category biolink:Gene . OMIM:608704 a owl:Class ; rdfs:label "NMRK1" ; IAO:0000142 PMID:15137942 ; - oboInOwl:hasDbXref UMLS:C1428549 ; oboInOwl:hasExactSynonym "NMRK1", "chromosome 9 open reading frame 95", "nicotinamide riboside kinase 1", "nrk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54981 ; - skos:exactMatch HGNC_symbol:NMRK1 ; + skos:exactMatch UMLS:C1428549, + HGNC:26057, + HGNC_symbol:NMRK1 ; biolink:category biolink:Gene . OMIM:608705 a owl:Class ; @@ -255847,14 +265429,15 @@ OMIM:608705 a owl:Class ; IAO:0000142 PMID:10613898, PMID:12941630, PMID:15137942 ; - oboInOwl:hasDbXref UMLS:C1425145 ; oboInOwl:hasExactSynonym "ITGB1BP3", "integrin, beta-1, binding protein of, 3", "muscle integrin-binding protein", "nicotinamide riboside kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27231 ; - skos:exactMatch HGNC_symbol:NMRK2 ; + skos:exactMatch UMLS:C1425145, + HGNC:17871, + HGNC_symbol:NMRK2 ; biolink:category biolink:Gene . OMIM:608706 a owl:Class ; @@ -255869,7 +265452,6 @@ OMIM:608706 a owl:Class ; PMID:23872636 ; RO:0002525 CHR:9606chr15q21.3 ; RO:0003303 OMIM:127700 ; - oboInOwl:hasDbXref UMLS:C1427582 ; oboInOwl:hasExactSynonym "DNAAF4", "dynein, axonemal, assembly factor 4", "dyx1c1 gene", @@ -255877,7 +265459,9 @@ OMIM:608706 a owl:Class ; "ekn1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161582 ; - skos:exactMatch HGNC_symbol:DNAAF4 ; + skos:exactMatch UMLS:C1427582, + HGNC:21493, + HGNC_symbol:DNAAF4 ; biolink:category biolink:Gene . OMIM:608707 a owl:Class ; @@ -255896,14 +265480,15 @@ OMIM:608707 a owl:Class ; PMID:9214393 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:614226 ; - oboInOwl:hasDbXref UMLS:C1332740, - UMLS:C3280215 ; oboInOwl:hasExactSynonym "CDON", "cdo", "cell adhesion molecule-related/downregulated by oncogenes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50937 ; - skos:exactMatch HGNC_symbol:CDON ; + skos:exactMatch UMLS:C1332740, + UMLS:C3280215, + HGNC:17104, + HGNC_symbol:CDON ; biolink:category biolink:Gene . OMIM:608708 a owl:Class ; @@ -255913,13 +265498,14 @@ OMIM:608708 a owl:Class ; PMID:12720294, PMID:17086203, PMID:23624372 ; - oboInOwl:hasDbXref UMLS:C1826625 ; oboInOwl:hasExactSynonym "BOC", "brother of cdo", "brother of cdon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91653 ; - skos:exactMatch HGNC_symbol:BOC ; + skos:exactMatch UMLS:C1826625, + HGNC:17173, + HGNC_symbol:BOC ; biolink:category biolink:Gene . OMIM:608711 a owl:Class ; @@ -255928,14 +265514,15 @@ OMIM:608711 a owl:Class ; PMID:15681389, PMID:18066065, PMID:9315096 ; - oboInOwl:hasDbXref UMLS:C1424726 ; oboInOwl:hasExactSynonym "CTDSP2", "conserved gene amplified 1n osteosarcoma 4", "ctd small phosphatase 2", "small ctd phosphatase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10106 ; - skos:exactMatch HGNC_symbol:CTDSP2 ; + skos:exactMatch UMLS:C1424726, + HGNC:17077, + HGNC_symbol:CTDSP2 ; biolink:category biolink:Gene . OMIM:608712 a owl:Class ; @@ -255945,15 +265532,16 @@ OMIM:608712 a owl:Class ; PMID:24123876, PMID:9486824, PMID:9602027 ; - oboInOwl:hasDbXref UMLS:C1335289, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "PTPRT", "kiaa0283", "protein-tyrosine phosphatase, receptor-type, t", "rptp-rho" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11122 ; - skos:exactMatch HGNC_symbol:PTPRT ; + skos:exactMatch UMLS:C1335289, + UMLS:C2986382, + HGNC:9682, + HGNC_symbol:PTPRT ; biolink:category biolink:Gene . OMIM:608713 a owl:Class ; @@ -255970,13 +265558,14 @@ OMIM:608713 a owl:Class ; PMID:8201479 ; RO:0002525 CHR:9606chr11p15.2 ; RO:0003303 OMIM:600081 ; - oboInOwl:hasDbXref UMLS:C1427014, - UMLS:C1838657 ; oboInOwl:hasExactSynonym "CYP2R1", "cytochrome p450, subfamily iir, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120227 ; - skos:exactMatch HGNC_symbol:CYP2R1 ; + skos:exactMatch UMLS:C1427014, + UMLS:C1838657, + HGNC:20580, + HGNC_symbol:CYP2R1 ; biolink:category biolink:Gene . OMIM:608714 a owl:Class ; @@ -255984,95 +265573,102 @@ OMIM:608714 a owl:Class ; IAO:0000142 PMID:10747910, PMID:15088139, PMID:9016643 ; - oboInOwl:hasDbXref UMLS:C1422175 ; oboInOwl:hasExactSynonym "SNTG1", "syn4", "syntrophin, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54212 ; - skos:exactMatch HGNC_symbol:SNTG1 ; + skos:exactMatch UMLS:C1422175, + HGNC:13740, + HGNC_symbol:SNTG1 ; biolink:category biolink:Gene . OMIM:608715 a owl:Class ; rdfs:label "SNTG2" ; IAO:0000142 PMID:10747910 ; - oboInOwl:hasDbXref UMLS:C1422176 ; oboInOwl:hasExactSynonym "SNTG2", "syn5", "syntrophin, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54221 ; - skos:exactMatch HGNC_symbol:SNTG2 ; + skos:exactMatch UMLS:C1422176, + HGNC:13741, + HGNC_symbol:SNTG2 ; biolink:category biolink:Gene . OMIM:608717 a owl:Class ; rdfs:label "LGALS13" ; IAO:0000142 PMID:10527825, PMID:6856484 ; - oboInOwl:hasDbXref UMLS:C1423495 ; oboInOwl:hasExactSynonym "LGALS13", "galectin 13", "lectin, galactoside-binding, soluble, 13", "placental protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29124 ; - skos:exactMatch HGNC_symbol:LGALS13 ; + skos:exactMatch UMLS:C1423495, + HGNC:15449, + HGNC_symbol:LGALS13 ; biolink:category biolink:Gene . OMIM:608718 a owl:Class ; rdfs:label "KRTAP13-1" ; IAO:0000142 PMID:12359730 ; - oboInOwl:hasDbXref UMLS:C1425892 ; oboInOwl:hasExactSynonym "KRTAP13-1", "kap13.1", "keratin-associated protein 13-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140258 ; - skos:exactMatch HGNC_symbol:KRTAP13-1 ; + skos:exactMatch UMLS:C1425892, + HGNC:18924, + HGNC_symbol:KRTAP13-1 ; biolink:category biolink:Gene . OMIM:608719 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12486131 ; - oboInOwl:hasDbXref UMLS:C1837500 ; oboInOwl:hasExactSynonym "tr4-associated protein, 16-kd", "tra16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126382 ; - skos:exactMatch HGNC_symbol:NR2C2AP ; + skos:exactMatch UMLS:C1837500, + HGNC:30763, + HGNC_symbol:NR2C2AP ; biolink:category biolink:Gene . OMIM:608720 a owl:Class ; rdfs:label "neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia" ; IAO:0000142 PMID:11696028 ; - oboInOwl:hasDbXref UMLS:C1837492 ; - oboInOwl:hasExactSynonym "neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia" . + oboInOwl:hasExactSynonym "neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia" ; + skos:exactMatch UMLS:C1837492 . OMIM:608721 a owl:Class ; rdfs:label "CAMK2N2" ; IAO:0000142 PMID:11444830, PMID:9724800 ; - oboInOwl:hasDbXref UMLS:C1824523 ; oboInOwl:hasExactSynonym "CAMK2N2", "calcium/calmodulin-dependent protein kinase 2 inhibitor 2", "camkii inhibitory protein", "camkiin-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94032 ; - skos:exactMatch HGNC_symbol:CAMK2N2 ; + skos:exactMatch UMLS:C1824523, + HGNC:24197, + HGNC_symbol:CAMK2N2 ; biolink:category biolink:Gene . OMIM:608722 a owl:Class ; rdfs:label "CAPZA3" ; IAO:0000142 PMID:12029070 ; - oboInOwl:hasDbXref UMLS:C1428357 ; oboInOwl:hasExactSynonym "CAPZA3", "cap protein, actin, alpha-3 subunit", "capping protein, alpha-3", "cp-alpha-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93661 ; - skos:exactMatch HGNC_symbol:CAPZA3 ; + skos:exactMatch UMLS:C1428357, + HGNC:24205, + HGNC_symbol:CAPZA3 ; biolink:category biolink:Gene . OMIM:608723 a owl:Class ; @@ -256084,76 +265680,81 @@ OMIM:608723 a owl:Class ; PMID:30256902 ; RO:0002525 CHR:9606chr6p24.1 ; RO:0003303 OMIM:618298 ; - oboInOwl:hasDbXref UMLS:C1538627, - UMLS:C4749023 ; oboInOwl:hasExactSynonym "PHACTR1", "kiaa1733", "phosphatase and actin regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221692 ; - skos:exactMatch HGNC_symbol:PHACTR1 ; + skos:exactMatch UMLS:C1538627, + UMLS:C4749023, + HGNC:20990, + HGNC_symbol:PHACTR1 ; biolink:category biolink:Gene . OMIM:608724 a owl:Class ; rdfs:label "PHACTR2" ; IAO:0000142 PMID:15107502, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1538628 ; oboInOwl:hasExactSynonym "PHACTR2", "kiaa0680", "phosphatase and actin regulator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9749 ; - skos:exactMatch HGNC_symbol:PHACTR2 ; + skos:exactMatch UMLS:C1538628, + HGNC:20956, + HGNC_symbol:PHACTR2 ; biolink:category biolink:Gene . OMIM:608725 a owl:Class ; rdfs:label "PHACTR3" ; IAO:0000142 PMID:12925532, PMID:15107502 ; - oboInOwl:hasDbXref UMLS:C1538629 ; oboInOwl:hasExactSynonym "PHACTR3", "phosphatase and actin regulator 3", "scaffold-associated protein phosphatase 1-inhibiting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116154 ; - skos:exactMatch HGNC_symbol:PHACTR3 ; + skos:exactMatch UMLS:C1538629, + HGNC:15833, + HGNC_symbol:PHACTR3 ; biolink:category biolink:Gene . OMIM:608726 a owl:Class ; rdfs:label "PHACTR4" ; IAO:0000142 PMID:15107502, PMID:17609112 ; - oboInOwl:hasDbXref UMLS:C1538630 ; oboInOwl:hasExactSynonym "PHACTR4", "phosphatase and actin regulator 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65979 ; - skos:exactMatch HGNC_symbol:PHACTR4 ; + skos:exactMatch UMLS:C1538630, + HGNC:25793, + HGNC_symbol:PHACTR4 ; biolink:category biolink:Gene . OMIM:608727 a owl:Class ; rdfs:label "DET1" ; IAO:0000142 PMID:14739464 ; - oboInOwl:hasDbXref UMLS:C1539273 ; oboInOwl:hasExactSynonym "DET1", "de-etiolated 1, arabidopsis, homolog of", "det1 partner of cop1 e3 ubiquitin ligase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55070 ; - skos:exactMatch HGNC_symbol:DET1 ; + skos:exactMatch UMLS:C1539273, + HGNC:25477, + HGNC_symbol:DET1 ; biolink:category biolink:Gene . OMIM:608728 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia" ; IAO:0000142 PMID:15121775, PMID:31724101 ; - oboInOwl:hasDbXref UMLS:C1837481, - ORPHA:156728 ; oboInOwl:hasExactSynonym "SEMDBCD", "semd, matn3-related", "spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia", "spondyloepimetaphyseal dysplasia, matrilin-3 related" ; + skos:exactMatch UMLS:C1837481, + ORPHA:156728 ; biolink:category biolink:Disease . OMIM:608729 a owl:Class ; @@ -256162,13 +265763,14 @@ OMIM:608729 a owl:Class ; PMID:11162453, PMID:11733189, PMID:15668245 ; - oboInOwl:hasDbXref UMLS:C1422049 ; oboInOwl:hasExactSynonym "AGTRAP", "angiotensin 2 receptor-associated protein", "atrap" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57085 ; - skos:exactMatch HGNC_symbol:AGTRAP ; + skos:exactMatch UMLS:C1422049, + HGNC:13539, + HGNC_symbol:AGTRAP ; biolink:category biolink:Gene . OMIM:608730 a owl:Class ; @@ -256177,12 +265779,13 @@ OMIM:608730 a owl:Class ; PMID:24891338 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:615946 ; - oboInOwl:hasDbXref UMLS:C1426974 ; oboInOwl:hasExactSynonym "SLC39A5", "solute carrier family 39 (zinc transporter), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283375 ; - skos:exactMatch HGNC_symbol:SLC39A5 ; + skos:exactMatch UMLS:C1426974, + HGNC:20502, + HGNC_symbol:SLC39A5 ; biolink:category biolink:Gene . OMIM:608731 a owl:Class ; @@ -256192,14 +265795,15 @@ OMIM:608731 a owl:Class ; PMID:15129296, PMID:2903103, PMID:30552163 ; - oboInOwl:hasDbXref UMLS:C1425643 ; oboInOwl:hasExactSynonym "SLC39A6", "liv1", "solute carrier family 39 (zinc transporter), member 6", "zip6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25800 ; - skos:exactMatch HGNC_symbol:SLC39A6 ; + skos:exactMatch UMLS:C1425643, + HGNC:18607, + HGNC_symbol:SLC39A6 ; biolink:category biolink:Gene . OMIM:608732 a owl:Class ; @@ -256214,27 +265818,29 @@ OMIM:608732 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:616721 ; - oboInOwl:hasDbXref UMLS:C1427169 ; oboInOwl:hasExactSynonym "SLC39A8", "bigm103", "solute carrier family 39 (zinc transporter), member 8", "zip8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64116 ; - skos:exactMatch HGNC_symbol:SLC39A8 ; + skos:exactMatch UMLS:C1427169, + HGNC:20862, + HGNC_symbol:SLC39A8 ; biolink:category biolink:Gene . OMIM:608733 a owl:Class ; rdfs:label "SLC39A10" ; IAO:0000142 PMID:10574462, PMID:12659941 ; - oboInOwl:hasDbXref UMLS:C1427168 ; oboInOwl:hasExactSynonym "SLC39A10", "kiaa1265", "solute carrier family 39 (zinc transporter), member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57181 ; - skos:exactMatch HGNC_symbol:SLC39A10 ; + skos:exactMatch UMLS:C1427168, + HGNC:20861, + HGNC_symbol:SLC39A10 ; biolink:category biolink:Gene . OMIM:608734 a owl:Class ; @@ -256242,13 +265848,14 @@ OMIM:608734 a owl:Class ; IAO:0000142 PMID:12659941, PMID:23716681, PMID:26258299 ; - oboInOwl:hasDbXref UMLS:C1427167 ; oboInOwl:hasExactSynonym "SLC39A12", "solute carrier family 39 (zinc transporter), member 12", "zrt- and irt-like protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221074 ; - skos:exactMatch HGNC_symbol:SLC39A12 ; + skos:exactMatch UMLS:C1427167, + HGNC:20860, + HGNC_symbol:SLC39A12 ; biolink:category biolink:Gene . OMIM:608735 a owl:Class ; @@ -256259,14 +265866,15 @@ OMIM:608735 a owl:Class ; PMID:21917916 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:612350 ; - oboInOwl:hasDbXref UMLS:C1427166 ; oboInOwl:hasExactSynonym "SLC39A13", "lzt-hs9", "solute carrier family 39 (zinc transporter), member 13", "zip13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91252 ; - skos:exactMatch HGNC_symbol:SLC39A13 ; + skos:exactMatch UMLS:C1427166, + HGNC:20859, + HGNC_symbol:SLC39A13 ; biolink:category biolink:Gene . OMIM:608736 a owl:Class ; @@ -256286,29 +265894,31 @@ OMIM:608736 a owl:Class ; PMID:7584044 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:617013 ; - oboInOwl:hasDbXref UMLS:C1427165, - UMLS:C1840404, - UMLS:C4310765 ; oboInOwl:hasExactSynonym "SLC39A14", "kiaa0062", "solute carrier family 39 (zinc transporter), member 14", "zip14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23516 ; - skos:exactMatch HGNC_symbol:SLC39A14 ; + skos:exactMatch UMLS:C1427165, + UMLS:C1840404, + UMLS:C4310765, + HGNC:20858, + HGNC_symbol:SLC39A14 ; biolink:category biolink:Gene . OMIM:608737 a owl:Class ; rdfs:label "RAB11FIP1" ; IAO:0000142 PMID:11495908, PMID:11786538 ; - oboInOwl:hasDbXref UMLS:C1538764 ; oboInOwl:hasExactSynonym "RAB11FIP1", "rab-coupling protein", "rab11 family-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80223 ; - skos:exactMatch HGNC_symbol:RAB11FIP1 ; + skos:exactMatch UMLS:C1538764, + HGNC:30265, + HGNC_symbol:RAB11FIP1 ; biolink:category biolink:Gene . OMIM:608738 a owl:Class ; @@ -256317,41 +265927,44 @@ OMIM:608738 a owl:Class ; PMID:11495908, PMID:16148947, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1538766 ; oboInOwl:hasExactSynonym "RAB11FIP3", "ef-hands-containing rab-interacting protein", "kiaa0665", "rab11 family-interacting protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9727 ; - skos:exactMatch HGNC_symbol:RAB11FIP3 ; + skos:exactMatch UMLS:C1538766, + HGNC:17224, + HGNC_symbol:RAB11FIP3 ; biolink:category biolink:Gene . OMIM:608739 a owl:Class ; rdfs:label "ERI1" ; IAO:0000142 PMID:14536070, PMID:23329046 ; - oboInOwl:hasDbXref UMLS:C1823271 ; oboInOwl:hasExactSynonym "ERI1", "exoribonuclease 1", "histone mrna 3-prime end-specific exoribonuclease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90459 ; - skos:exactMatch HGNC_symbol:ERI1 ; + skos:exactMatch UMLS:C1823271, + HGNC:23994, + HGNC_symbol:ERI1 ; biolink:category biolink:Gene . OMIM:608740 a owl:Class ; rdfs:label "NFAM1" ; IAO:0000142 PMID:12615919, PMID:15143214 ; - oboInOwl:hasDbXref UMLS:C1538055 ; oboInOwl:hasExactSynonym "NFAM1", "calcineurin- and nfat-activating itam-containing protein", "nfat activating protein with itam motif 1", "nfat activation molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150372 ; - skos:exactMatch HGNC_symbol:NFAM1 ; + skos:exactMatch UMLS:C1538055, + HGNC:29872, + HGNC_symbol:NFAM1 ; biolink:category biolink:Gene . OMIM:608741 a owl:Class ; @@ -256359,26 +265972,28 @@ OMIM:608741 a owl:Class ; IAO:0000142 PMID:11543631, PMID:12925569, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1426106 ; oboInOwl:hasExactSynonym "SYT11", "kiaa0080", "synaptotagmin 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23208 ; - skos:exactMatch HGNC_symbol:SYT11 ; + skos:exactMatch UMLS:C1426106, + HGNC:19239, + HGNC_symbol:SYT11 ; biolink:category biolink:Gene . OMIM:608743 a owl:Class ; rdfs:label "JSRP1" ; IAO:0000142 PMID:12871958, PMID:18077436 ; - oboInOwl:hasDbXref UMLS:C1825641 ; oboInOwl:hasExactSynonym "JSRP1", "jp45, mouse, homolog of", "junctional sarcoplasmic reticulum protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126306 ; - skos:exactMatch HGNC_symbol:JSRP1 ; + skos:exactMatch UMLS:C1825641, + HGNC:24963, + HGNC_symbol:JSRP1 ; biolink:category biolink:Gene . OMIM:608744 a owl:Class ; @@ -256392,13 +266007,14 @@ OMIM:608744 a owl:Class ; PMID:29100094 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:612289 ; - oboInOwl:hasDbXref UMLS:C1539782 ; oboInOwl:hasExactSynonym "SLC25A24", "short calcium-binding mitochondrial carrier 1", "solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29957 ; - skos:exactMatch HGNC_symbol:SLC25A24 ; + skos:exactMatch UMLS:C1539782, + HGNC:20662, + HGNC_symbol:SLC25A24 ; biolink:category biolink:Gene . OMIM:608745 a owl:Class ; @@ -256406,7 +266022,6 @@ OMIM:608745 a owl:Class ; IAO:0000142 PMID:11572484, PMID:12645546, PMID:15054102 ; - oboInOwl:hasDbXref UMLS:C1539783 ; oboInOwl:hasExactSynonym "SLC25A25", "kiaa1896", "mitochondrial calcium-dependent solute carrier", @@ -256414,19 +266029,22 @@ OMIM:608745 a owl:Class ; "solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114789 ; - skos:exactMatch HGNC_symbol:SLC25A25 ; + skos:exactMatch UMLS:C1539783, + HGNC:20663, + HGNC_symbol:SLC25A25 ; biolink:category biolink:Gene . OMIM:608746 a owl:Class ; rdfs:label "SLC25A23" ; IAO:0000142 PMID:15054102 ; - oboInOwl:hasDbXref UMLS:C1539781 ; oboInOwl:hasExactSynonym "SLC25A23", "short calcium-binding mitochondrial carrier 3", "solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79085 ; - skos:exactMatch HGNC_symbol:SLC25A23 ; + skos:exactMatch UMLS:C1539781, + HGNC:19375, + HGNC_symbol:SLC25A23 ; biolink:category biolink:Gene . OMIM:608748 a owl:Class ; @@ -256434,12 +266052,13 @@ OMIM:608748 a owl:Class ; IAO:0000142 PMID:10072785, PMID:20596014, PMID:26056270 ; - oboInOwl:hasDbXref UMLS:C1332422 ; oboInOwl:hasExactSynonym "BMP10", "bone morphogenetic protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27302 ; - skos:exactMatch HGNC_symbol:BMP10 ; + skos:exactMatch UMLS:C1332422, + HGNC:20869, + HGNC_symbol:BMP10 ; biolink:category biolink:Gene . OMIM:608749 a owl:Class ; @@ -256460,7 +266079,6 @@ OMIM:608749 a owl:Class ; PMID:30232453, PMID:31133746, PMID:31969702 ; - oboInOwl:hasDbXref UMLS:C1422073 ; oboInOwl:hasExactSynonym "BRD4", "brd4/nut fusion gene", "bromodomain-containing protein 4", @@ -256468,7 +266086,9 @@ OMIM:608749 a owl:Class ; "mitotic chromosome-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23476 ; - skos:exactMatch HGNC_symbol:BRD4 ; + skos:exactMatch UMLS:C1422073, + HGNC:13575, + HGNC_symbol:BRD4 ; biolink:category biolink:Gene . OMIM:608750 a owl:Class ; @@ -256481,15 +266101,16 @@ OMIM:608750 a owl:Class ; PMID:8552211 ; RO:0002525 CHR:9606chr3q27.1 ; RO:0003303 OMIM:601110 ; - oboInOwl:hasDbXref UMLS:C1427879, - UMLS:C1832736 ; oboInOwl:hasExactSynonym "ALG3", "alg3 alpha-1,3-mannosyltransferase", "alg3 not56-like protein", "alg3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10195 ; - skos:exactMatch HGNC_symbol:ALG3 ; + skos:exactMatch UMLS:C1427879, + UMLS:C1832736, + HGNC:23056, + HGNC_symbol:ALG3 ; biolink:category biolink:Gene . OMIM:608752 a owl:Class ; @@ -256500,13 +266121,14 @@ OMIM:608752 a owl:Class ; PMID:9512423 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:605670 ; - oboInOwl:hasDbXref UMLS:C1422581 ; oboInOwl:hasExactSynonym "C1QTNF5", "c1q- and tumor necrosis factor-related protein 5", "ctrp5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114902 ; - skos:exactMatch HGNC_symbol:C1QTNF5 ; + skos:exactMatch UMLS:C1422581, + HGNC:14344, + HGNC_symbol:C1QTNF5 ; biolink:category biolink:Gene . OMIM:608753 a owl:Class ; @@ -256517,14 +266139,15 @@ OMIM:608753 a owl:Class ; PMID:23562994 ; RO:0002525 CHR:9606chr3p25.2 ; RO:0003303 OMIM:612389 ; - oboInOwl:hasDbXref UMLS:C1540077 ; oboInOwl:hasExactSynonym "TSEN2", "sen2, yeast, homolog of", "trna splicing endonuclease 2, s. cerevisiae, homolog of", "trna splicing endonuclease, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80746 ; - skos:exactMatch HGNC_symbol:TSEN2 ; + skos:exactMatch UMLS:C1540077, + HGNC:28422, + HGNC_symbol:TSEN2 ; biolink:category biolink:Gene . OMIM:608754 a owl:Class ; @@ -256534,7 +266157,6 @@ OMIM:608754 a owl:Class ; PMID:18711368 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:612390 ; - oboInOwl:hasDbXref UMLS:C1540078 ; oboInOwl:hasExactSynonym "TSEN34", "leukocyte receptor cluster gene 5", "sen34, yeast, homolog of", @@ -256542,7 +266164,9 @@ OMIM:608754 a owl:Class ; "trna splicing endonuclease, subunit 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79042 ; - skos:exactMatch HGNC_symbol:TSEN34 ; + skos:exactMatch UMLS:C1540078, + HGNC:15506, + HGNC_symbol:TSEN34 ; biolink:category biolink:Gene . OMIM:608755 a owl:Class ; @@ -256556,14 +266180,15 @@ OMIM:608755 a owl:Class ; PMID:21368912 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:225753 ; - oboInOwl:hasDbXref UMLS:C1540079 ; oboInOwl:hasExactSynonym "TSEN54", "sen54, yeast, homolog of", "trna splicing endonuclease 54, s. cerevisiae, homolog of", "trna splicing endonuclease, subunit 54" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283989 ; - skos:exactMatch HGNC_symbol:TSEN54 ; + skos:exactMatch UMLS:C1540079, + HGNC:27561, + HGNC_symbol:TSEN54 ; biolink:category biolink:Gene . OMIM:608756 a owl:Class ; @@ -256574,7 +266199,6 @@ OMIM:608756 a owl:Class ; PMID:27392077 ; RO:0002525 CHR:9606chr1q25.3 ; RO:0003303 OMIM:617026 ; - oboInOwl:hasDbXref UMLS:C1424550 ; oboInOwl:hasExactSynonym "TSEN15", "chromosome 1 open reading frame 19", "sen15, yeast, homolog of", @@ -256582,7 +266206,9 @@ OMIM:608756 a owl:Class ; "trna splicing endonuclease, subunit 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116461 ; - skos:exactMatch HGNC_symbol:TSEN15 ; + skos:exactMatch UMLS:C1424550, + HGNC:16791, + HGNC_symbol:TSEN15 ; biolink:category biolink:Gene . OMIM:608757 a owl:Class ; @@ -256597,8 +266223,6 @@ OMIM:608757 a owl:Class ; PMID:8896421 ; RO:0002525 CHR:9606chr11q12.1 ; RO:0003303 OMIM:615803 ; - oboInOwl:hasDbXref UMLS:C1824753, - UMLS:C1865580 ; oboInOwl:hasExactSynonym "CLP1", "cleavage and polyadenylation factor 1 subunit 1, yeast, homolog of", "cleavage factor polynucleotide kinase subunit 1", @@ -256606,7 +266230,10 @@ OMIM:608757 a owl:Class ; "heab/af10 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10978 ; - skos:exactMatch HGNC_symbol:CLP1 ; + skos:exactMatch UMLS:C1824753, + UMLS:C1865580, + HGNC:16999, + HGNC_symbol:CLP1 ; biolink:category biolink:Gene . OMIM:608758 a owl:Class ; @@ -256614,11 +266241,11 @@ OMIM:608758 a owl:Class ; IAO:0000142 PMID:12404107, PMID:8673105, PMID:9535554 ; - oboInOwl:hasDbXref UMLS:C1834460 ; oboInOwl:hasExactSynonym "CMH10", "cardiomyopathy, familial hypertrophic, 10", "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C1834460 ; biolink:category biolink:Disease . OMIM:608759 a owl:Class ; @@ -256630,14 +266257,15 @@ OMIM:608759 a owl:Class ; PMID:12796507, PMID:25665792, PMID:29720595 ; - oboInOwl:hasDbXref UMLS:C1424337 ; oboInOwl:hasExactSynonym "CYGB", "cytoglobin", "histoglobin", "stellate cell activation-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114757 ; - skos:exactMatch HGNC_symbol:CYGB ; + skos:exactMatch UMLS:C1424337, + HGNC:16505, + HGNC_symbol:CYGB ; biolink:category biolink:Gene . OMIM:608760 a owl:Class ; @@ -256657,7 +266285,6 @@ OMIM:608760 a owl:Class ; PMID:34161705 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:619422 ; - oboInOwl:hasDbXref UMLS:C1825498 ; oboInOwl:hasExactSynonym "ATG7", "apg7, s. cerevisiae, homolog of, apg7", "apg7-like", @@ -256666,7 +266293,9 @@ OMIM:608760 a owl:Class ; "gsa7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10533 ; - skos:exactMatch HGNC_symbol:ATG7 ; + skos:exactMatch UMLS:C1825498, + HGNC:16935, + HGNC_symbol:ATG7 ; biolink:category biolink:Gene . OMIM:608761 a owl:Class ; @@ -256681,21 +266310,22 @@ OMIM:608761 a owl:Class ; PMID:7420092 ; RO:0002525 CHR:9606chr2q12.3 ; RO:0003303 OMIM:158580 ; - oboInOwl:hasDbXref UMLS:C1422359 ; oboInOwl:hasExactSynonym "SLC5A7", "choline transporter", "solute carrier family 5 (choline transporter), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60482 ; - skos:exactMatch HGNC_symbol:SLC5A7 ; + skos:exactMatch UMLS:C1422359, + HGNC:14025, + HGNC_symbol:SLC5A7 ; biolink:category biolink:Gene . OMIM:608763 a owl:Class ; rdfs:label "ehlers-danlos syndrome, beasley-cohen iia" ; IAO:0000142 PMID:477010 ; - oboInOwl:hasDbXref UMLS:C1837462 ; oboInOwl:hasExactSynonym "ehlers-danlos syndrome with mental retardation, deafness, and cataract", - "ehlers-danlos syndrome, beasley-cohen iia" . + "ehlers-danlos syndrome, beasley-cohen iia" ; + skos:exactMatch UMLS:C1837462 . OMIM:608764 a owl:Class ; rdfs:label "NAMPT" ; @@ -256714,7 +266344,6 @@ OMIM:608764 a owl:Class ; PMID:19299583, PMID:31019297, PMID:8289818 ; - oboInOwl:hasDbXref UMLS:C1428933 ; oboInOwl:hasExactSynonym "NAMPT", "nicotinamide phosphoribosyltransferase", "pbef", @@ -256722,7 +266351,9 @@ OMIM:608764 a owl:Class ; "visfatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10135 ; - skos:exactMatch HGNC_symbol:NAMPT ; + skos:exactMatch UMLS:C1428933, + HGNC:30092, + HGNC_symbol:NAMPT ; biolink:category biolink:Gene . OMIM:608765 a owl:Class ; @@ -256730,9 +266361,9 @@ OMIM:608765 a owl:Class ; IAO:0000142 PMID:15088139, PMID:17436250 ; RO:0002525 CHR:9606chr8q12 ; - oboInOwl:hasDbXref UMLS:C1837461 ; oboInOwl:hasExactSynonym "IS3", "scoliosis, isolated, susceptibility to, 3" ; + skos:exactMatch UMLS:C1837461 ; biolink:category biolink:Disease . OMIM:608766 a owl:Class ; @@ -256741,13 +266372,14 @@ OMIM:608766 a owl:Class ; PMID:11031110, PMID:11384978, PMID:15082773 ; - oboInOwl:hasDbXref UMLS:C1416913 ; oboInOwl:hasExactSynonym "LRP1B", "low density lipoprotein receptor-related protein 1b", "low density lipoprotein receptor-related protein deleted 1n tumors" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53353 ; - skos:exactMatch HGNC_symbol:LRP1B ; + skos:exactMatch UMLS:C1416913, + HGNC:6693, + HGNC_symbol:LRP1B ; biolink:category biolink:Gene . OMIM:608767 a owl:Class ; @@ -256756,14 +266388,15 @@ OMIM:608767 a owl:Class ; PMID:11733146, PMID:14527725, PMID:15082774 ; - oboInOwl:hasDbXref UMLS:C1424646 ; oboInOwl:hasExactSynonym "FEM1C", "fem1 homolog c", "fem1, c. elegans, homolog of, c", "kiaa1785" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56929 ; - skos:exactMatch HGNC_symbol:FEM1C ; + skos:exactMatch UMLS:C1424646, + HGNC:16933, + HGNC_symbol:FEM1C ; biolink:category biolink:Gene . OMIM:608769 a owl:Class ; @@ -256782,7 +266415,6 @@ OMIM:608769 a owl:Class ; PMID:9467010 ; RO:0002525 CHR:9606chr11p13 ; RO:0003303 OMIM:245349 ; - oboInOwl:hasDbXref UMLS:C1427500 ; oboInOwl:hasExactSynonym "PDHX", "pdx1", "pyruvate dehydrogenase complex, component 10", @@ -256790,7 +266422,9 @@ OMIM:608769 a owl:Class ; "pyruvate dehydrogenase complex, lipoyl-containing component 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8050 ; - skos:exactMatch HGNC_symbol:PDHX ; + skos:exactMatch UMLS:C1427500, + HGNC:21350, + HGNC_symbol:PDHX ; biolink:category biolink:Gene . OMIM:608770 a owl:Class ; @@ -256804,14 +266438,15 @@ OMIM:608770 a owl:Class ; PMID:8102256 ; RO:0002525 CHR:9606chr11q23.1 ; RO:0003303 OMIM:245348 ; - oboInOwl:hasDbXref UMLS:C1414062 ; oboInOwl:hasExactSynonym "DLAT", "dihydrolipoamide s-acetyltransferase", "m2 antigen complex, 70-kd subunit", "pyruvate dehydrogenase complex, e2 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1737 ; - skos:exactMatch HGNC_symbol:DLAT ; + skos:exactMatch UMLS:C1414062, + HGNC:2896, + HGNC_symbol:DLAT ; biolink:category biolink:Gene . OMIM:608771 a owl:Class ; @@ -256829,7 +266464,6 @@ OMIM:608771 a owl:Class ; PMID:25758992 ; RO:0002525 CHR:9606chr12q24.21 ; RO:0003303 OMIM:616789 ; - oboInOwl:hasDbXref UMLS:C1427815 ; oboInOwl:hasExactSynonym "MED13L", "kiaa1025", "mediator complex subunit 13-like", @@ -256838,18 +266472,21 @@ OMIM:608771 a owl:Class ; "trap240-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23389 ; - skos:exactMatch HGNC_symbol:MED13L ; + skos:exactMatch UMLS:C1427815, + HGNC:22962, + HGNC_symbol:MED13L ; biolink:category biolink:Gene . OMIM:608772 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:14617774 ; - oboInOwl:hasDbXref UMLS:C1837442 ; oboInOwl:hasExactSynonym "iip45", "invasion inhibitory protein, 45-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60672 ; - skos:exactMatch HGNC_symbol:MIIP ; + skos:exactMatch UMLS:C1837442, + HGNC:25715, + HGNC_symbol:MIIP ; biolink:category biolink:Gene . OMIM:608773 a owl:Class ; @@ -256857,14 +266494,15 @@ OMIM:608773 a owl:Class ; IAO:0000142 PMID:10083737, PMID:11781156, PMID:14623963 ; - oboInOwl:hasDbXref UMLS:C1837441 ; oboInOwl:hasExactSynonym "TPPP", "p24", "p25", "tubulin polymerization-promoting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11076 ; - skos:exactMatch HGNC_symbol:TPPP ; + skos:exactMatch UMLS:C1837441, + HGNC:24164, + HGNC_symbol:TPPP ; biolink:category biolink:Gene . OMIM:608774 a owl:Class ; @@ -256881,12 +266519,13 @@ OMIM:608774 a owl:Class ; PMID:9650634, PMID:9672901, PMID:9672902 ; - oboInOwl:hasDbXref UMLS:C1427255 ; oboInOwl:hasExactSynonym "ANKK1", "ankyrin repeat- and kinase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255239 ; - skos:exactMatch HGNC_symbol:ANKK1 ; + skos:exactMatch UMLS:C1427255, + HGNC:21027, + HGNC_symbol:ANKK1 ; biolink:category biolink:Gene . OMIM:608775 a owl:Class ; @@ -256895,14 +266534,15 @@ OMIM:608775 a owl:Class ; PMID:18443220, PMID:19369198, PMID:19427217 ; - oboInOwl:hasDbXref UMLS:C1428451 ; oboInOwl:hasExactSynonym "HAUS1", "coiled-coil domain-containing protein 5", "haus augmin-like complex, subunit 1", "human enhancer of invasion cluster" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115106 ; - skos:exactMatch HGNC_symbol:HAUS1 ; + skos:exactMatch UMLS:C1428451, + HGNC:25174, + HGNC_symbol:HAUS1 ; biolink:category biolink:Gene . OMIM:608776 a owl:Class ; @@ -256910,11 +266550,11 @@ OMIM:608776 a owl:Class ; IAO:0000142 PMID:15148656, PMID:15945070, PMID:26453364 ; - oboInOwl:hasDbXref UMLS:C2931006 ; oboInOwl:hasExactSynonym "CDG1L", "cdg il", "congenital disorder of glycosylation, iia il" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C2931006 ; biolink:category biolink:Disease . OMIM:608777 a owl:Class ; @@ -256925,14 +266565,15 @@ OMIM:608777 a owl:Class ; PMID:17898169, PMID:18296617, PMID:8363580 ; - oboInOwl:hasDbXref UMLS:C1424662 ; oboInOwl:hasExactSynonym "POSTN", "osteoblast-specific factor 2", "periostin", "pn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10631 ; - skos:exactMatch HGNC_symbol:POSTN ; + skos:exactMatch UMLS:C1424662, + HGNC:16953, + HGNC_symbol:POSTN ; biolink:category biolink:Gene . OMIM:608778 a owl:Class ; @@ -256941,12 +266582,13 @@ OMIM:608778 a owl:Class ; PMID:17047026 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:615081 ; - oboInOwl:hasDbXref UMLS:C1425807 ; oboInOwl:hasExactSynonym "KLHL10", "kelch-like 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:317719 ; - skos:exactMatch HGNC_symbol:KLHL10 ; + skos:exactMatch UMLS:C1425807, + HGNC:18829, + HGNC_symbol:KLHL10 ; biolink:category biolink:Gene . OMIM:608780 a owl:Class ; @@ -256961,8 +266603,6 @@ OMIM:608780 a owl:Class ; PMID:30359777 ; RO:0002525 CHR:9606chr6q25.3 ; RO:0003303 OMIM:616395 ; - oboInOwl:hasDbXref UMLS:C1539623, - UMLS:C4017171 ; oboInOwl:hasExactSynonym "GTF2H5", "chromosome 6 open reading frame 175", "general transcription factor iih, polypeptide 5", @@ -256971,7 +266611,10 @@ OMIM:608780 a owl:Class ; "transcription factor iih, 8-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:404672 ; - skos:exactMatch HGNC_symbol:GTF2H5 ; + skos:exactMatch UMLS:C1539623, + UMLS:C4017171, + HGNC:21157, + HGNC_symbol:GTF2H5 ; biolink:category biolink:Gene . OMIM:608783 a owl:Class ; @@ -256979,12 +266622,13 @@ OMIM:608783 a owl:Class ; IAO:0000142 PMID:15235609, PMID:16155568, PMID:24847881 ; - oboInOwl:hasDbXref UMLS:C1423543 ; oboInOwl:hasExactSynonym "SMYD3", "set and mynd domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64754 ; - skos:exactMatch HGNC_symbol:SMYD3 ; + skos:exactMatch UMLS:C1423543, + HGNC:15513, + HGNC_symbol:SMYD3 ; biolink:category biolink:Gene . OMIM:608784 a owl:Class ; @@ -256994,27 +266638,29 @@ OMIM:608784 a owl:Class ; PMID:15184899, PMID:15489219, PMID:15992527 ; - oboInOwl:hasDbXref UMLS:C1425539 ; oboInOwl:hasExactSynonym "ZDHHC8", "kiaa1292", "zinc finger dhhc domain-containing protein 8", "znf378" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29801 ; - skos:exactMatch HGNC_symbol:ZDHHC8 ; + skos:exactMatch UMLS:C1425539, + HGNC:18474, + HGNC_symbol:ZDHHC8 ; biolink:category biolink:Gene . OMIM:608785 a owl:Class ; rdfs:label "HTRA3" ; IAO:0000142 PMID:12513693 ; - oboInOwl:hasDbXref UMLS:C1537393 ; oboInOwl:hasExactSynonym "HTRA3", "htra serine peptidase 3", "htra, e. coli, homolog of, 3", "pregnancy-related serine protease, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94031 ; - skos:exactMatch HGNC_symbol:HTRA3 ; + skos:exactMatch UMLS:C1537393, + HGNC:30406, + HGNC_symbol:HTRA3 ; biolink:category biolink:Gene . OMIM:608786 a owl:Class ; @@ -257034,12 +266680,13 @@ OMIM:608786 a owl:Class ; PMID:9585612 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:266150 ; - oboInOwl:hasDbXref UMLS:C1418288 ; oboInOwl:hasExactSynonym "PC", "pyruvate carboxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5091 ; - skos:exactMatch HGNC_symbol:PC ; + skos:exactMatch UMLS:C1418288, + HGNC:8636, + HGNC_symbol:PC ; biolink:category biolink:Gene . OMIM:608788 a owl:Class ; @@ -257048,40 +266695,43 @@ OMIM:608788 a owl:Class ; PMID:16127460, PMID:17803907, PMID:9344857 ; - oboInOwl:hasDbXref UMLS:C1428898 ; oboInOwl:hasExactSynonym "SOCS7", "nck-, ash-, and plcg-binding protein 4", "nck-associated protein 4", "suppressor of cytokine signaling 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30837 ; - skos:exactMatch HGNC_symbol:SOCS7 ; + skos:exactMatch UMLS:C1428898, + HGNC:29846, + HGNC_symbol:SOCS7 ; biolink:category biolink:Gene . OMIM:608789 a owl:Class ; rdfs:label "NCKAP5" ; IAO:0000142 PMID:9344857 ; - oboInOwl:hasDbXref UMLS:C1837421 ; oboInOwl:hasExactSynonym "NCKAP5", "nap5", "nck-associated protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344148 ; - skos:exactMatch HGNC_symbol:NCKAP5 ; + skos:exactMatch UMLS:C1837421, + HGNC:29847, + HGNC_symbol:NCKAP5 ; biolink:category biolink:Gene . OMIM:608790 a owl:Class ; rdfs:label "TADA2B" ; IAO:0000142 PMID:12972612, PMID:18838386 ; - oboInOwl:hasDbXref UMLS:C1837420 ; oboInOwl:hasExactSynonym "TADA2B", "ada2, yeast, homolog of, beta", "ada2-beta", "transcriptional adaptor 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93624 ; - skos:exactMatch HGNC_symbol:TADA2B ; + skos:exactMatch UMLS:C1837420, + HGNC:30781, + HGNC_symbol:TADA2B ; biolink:category biolink:Gene . OMIM:608791 a owl:Class ; @@ -257090,7 +266740,6 @@ OMIM:608791 a owl:Class ; PMID:15220920, PMID:17764561, PMID:19843539 ; - oboInOwl:hasDbXref UMLS:C1540142 ; oboInOwl:hasExactSynonym "NXNL1", "loc115861", "nucleoredoxin-like protein 1", @@ -257098,7 +266747,9 @@ OMIM:608791 a owl:Class ; "thioredoxin-like 6, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115861 ; - skos:exactMatch HGNC_symbol:NXNL1 ; + skos:exactMatch UMLS:C1540142, + HGNC:25179, + HGNC_symbol:NXNL1 ; biolink:category biolink:Gene . OMIM:608792 a owl:Class ; @@ -257110,22 +266761,21 @@ OMIM:608792 a owl:Class ; PMID:9286457 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:601869 ; - oboInOwl:hasDbXref UMLS:C1825353, - UMLS:C1866094 ; oboInOwl:hasExactSynonym "GIPC3", "gaip c-terminus-interacting protein 3", "gipc pdz domain-containing family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126326 ; - skos:exactMatch HGNC_symbol:GIPC3 ; + skos:exactMatch UMLS:C1825353, + UMLS:C1866094, + HGNC:18183, + HGNC_symbol:GIPC3 ; biolink:category biolink:Gene . OMIM:608793 a owl:Class ; rdfs:label "SPECC1" ; IAO:0000142 PMID:15087372, PMID:15602574 ; - oboInOwl:hasDbXref UMLS:C1823096, - UMLS:C1837419 ; oboInOwl:hasExactSynonym "SPECC1", "hcmogt1", "hcmogt1/pdgfrb fusion gene", @@ -257133,7 +266783,10 @@ OMIM:608793 a owl:Class ; "sperm antigen with calponin homology and coiled-coil domains 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92521 ; - skos:exactMatch HGNC_symbol:SPECC1 ; + skos:exactMatch UMLS:C1823096, + UMLS:C1837419, + HGNC:30615, + HGNC_symbol:SPECC1 ; biolink:category biolink:Gene . OMIM:608794 a owl:Class ; @@ -257145,7 +266798,6 @@ OMIM:608794 a owl:Class ; PMID:1903119, PMID:9221785, PMID:9680295 ; - oboInOwl:hasDbXref UMLS:C1418594 ; oboInOwl:hasExactSynonym "PITPNM1", "dres9", "phosphatidylinositol transfer protein, membrane-associated, 1", @@ -257153,19 +266805,22 @@ OMIM:608794 a owl:Class ; "retinal degeneration gene b, drosophila, homolog of, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9600 ; - skos:exactMatch HGNC_symbol:PITPNM1 ; + skos:exactMatch UMLS:C1418594, + HGNC:9003, + HGNC_symbol:PITPNM1 ; biolink:category biolink:Gene . OMIM:608795 a owl:Class ; rdfs:label "PLCD3" ; IAO:0000142 PMID:10702670, PMID:9056492 ; - oboInOwl:hasDbXref UMLS:C1418636 ; oboInOwl:hasExactSynonym "PLCD3", "phospholipase c, delta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113026 ; - skos:exactMatch HGNC_symbol:PLCD3 ; + skos:exactMatch UMLS:C1418636, + HGNC:9061, + HGNC_symbol:PLCD3 ; biolink:category biolink:Gene . OMIM:608797 a owl:Class ; @@ -257176,14 +266831,15 @@ OMIM:608797 a owl:Class ; PMID:30388401 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:618431 ; - oboInOwl:hasDbXref UMLS:C1837417 ; oboInOwl:hasExactSynonym "MEI1", "mei1, mouse, homolog of", "meiotic double-stranded break formation protein 1", "spermatogenesis-associated protein 38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150365 ; - skos:exactMatch HGNC_symbol:MEI1 ; + skos:exactMatch UMLS:C1837417, + HGNC:28613, + HGNC_symbol:MEI1 ; biolink:category biolink:Gene . OMIM:608798 a owl:Class ; @@ -257206,15 +266862,16 @@ OMIM:608798 a owl:Class ; PMID:9771715 ; RO:0002525 CHR:9606chr7p15.3 ; RO:0003303 OMIM:600994 ; - oboInOwl:hasDbXref UMLS:C1414006, - UMLS:C1832932 ; oboInOwl:hasExactSynonym "GSDME", "dfna5 gene", "gasdermin e", "inversely correlated with estrogen receptor expression 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1687 ; - skos:exactMatch HGNC_symbol:GSDME ; + skos:exactMatch UMLS:C1414006, + UMLS:C1832932, + HGNC:2810, + HGNC_symbol:GSDME ; biolink:category biolink:Gene . OMIM:608801 a owl:Class ; @@ -257239,12 +266896,13 @@ OMIM:608801 a owl:Class ; PMID:9711871 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:231670 ; - oboInOwl:hasDbXref UMLS:C1415009 ; oboInOwl:hasExactSynonym "GCDH", "glutaryl-coa dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2639 ; - skos:exactMatch HGNC_symbol:GCDH ; + skos:exactMatch UMLS:C1415009, + HGNC:4189, + HGNC_symbol:GCDH ; biolink:category biolink:Gene . OMIM:608802 a owl:Class ; @@ -257256,7 +266914,6 @@ OMIM:608802 a owl:Class ; PMID:20592034, PMID:21205669, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1423822 ; oboInOwl:hasExactSynonym "L3MBTL1", "kiaa0681", "l3mbt, drosophila, homolog of, 1", @@ -257264,7 +266921,9 @@ OMIM:608802 a owl:Class ; "l3mbtl histone methyl-lysine-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26013 ; - skos:exactMatch HGNC_symbol:L3MBTL1 ; + skos:exactMatch UMLS:C1423822, + HGNC:15905, + HGNC_symbol:L3MBTL1 ; biolink:category biolink:Gene . OMIM:608803 a owl:Class ; @@ -257287,7 +266946,6 @@ OMIM:608803 a owl:Class ; PMID:8733901 ; RO:0002525 CHR:9606chr1q42.13 ; RO:0003303 OMIM:613480 ; - oboInOwl:hasDbXref UMLS:C1424981 ; oboInOwl:hasExactSynonym "GJC2", "connexin 46.6", "connexin 47", @@ -257296,7 +266954,9 @@ OMIM:608803 a owl:Class ; "gap junction protein, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57165 ; - skos:exactMatch HGNC_symbol:GJC2 ; + skos:exactMatch UMLS:C1424981, + HGNC:17494, + HGNC_symbol:GJC2 ; biolink:category biolink:Gene . OMIM:608804 a owl:Class ; @@ -257309,11 +266969,11 @@ OMIM:608804 a owl:Class ; PMID:20513814, PMID:22669416, PMID:24374284 ; - oboInOwl:hasDbXref UMLS:C1837355 ; oboInOwl:hasExactSynonym "HLD2", "leukodystrophy, hypomyelinating, 2", "pelizaeus-merzbacher-like disease, 1" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C1837355 ; biolink:category biolink:Disease . OMIM:608805 a owl:Class ; @@ -257327,8 +266987,6 @@ OMIM:608805 a owl:Class ; PMID:2897791, PMID:7593093, PMID:7890797 ; - oboInOwl:hasDbXref UMLS:C0410480, - UMLS:C4551562 ; oboInOwl:hasExactSynonym "ANFH1", "avascular necrosis of femoral head, primary, 1", "femoral head, aseptic necrosis of", @@ -257336,17 +266994,20 @@ OMIM:608805 a owl:Class ; "ischemic necrosis of femoral head", "osteonecrosis of femoral head" ; rdfs:subClassOf OMIMPS:608805 ; + skos:exactMatch UMLS:C0410480, + UMLS:C4551562 ; biolink:category biolink:Disease . OMIM:608806 a owl:Class ; rdfs:label "NAALADL2" ; IAO:0000142 PMID:15168106 ; - oboInOwl:hasDbXref UMLS:C1826340 ; oboInOwl:hasExactSynonym "NAALADL2", "n-acetylated alpha-linked acidic dipeptidase-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254827 ; - skos:exactMatch HGNC_symbol:NAALADL2 ; + skos:exactMatch UMLS:C1826340, + HGNC:23219, + HGNC_symbol:NAALADL2 ; biolink:category biolink:Gene . OMIM:608807 a owl:Class ; @@ -257361,11 +267022,11 @@ OMIM:608807 a owl:Class ; PMID:26392295, PMID:30055862, PMID:9497249 ; - oboInOwl:hasDbXref UMLS:C1837342 ; oboInOwl:hasExactSynonym "LGMDR10", "muscular dystrophy, limb-girdle, iia 2j", "muscular dystrophy, limb-girdle, autosomal recessive 10" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C1837342 ; biolink:category biolink:Disease . OMIM:608808 a owl:Class ; @@ -257373,17 +267034,17 @@ OMIM:608808 a owl:Class ; IAO:0000142 PMID:11799476, PMID:14638541, PMID:8957507 ; - oboInOwl:hasDbXref UMLS:C1837341 ; oboInOwl:hasExactSynonym "DTGA", "dtga1", - "transposition of the great arteries, dextro-looped" . + "transposition of the great arteries, dextro-looped" ; + skos:exactMatch UMLS:C1837341 . OMIM:608809 a owl:Class ; rdfs:label "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" ; IAO:0000142 PMID:15211657 ; - oboInOwl:hasDbXref UMLS:C1837329 ; oboInOwl:hasExactSynonym "LACH", - "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" . + "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" ; + skos:exactMatch UMLS:C1837329 . OMIM:608810 a owl:Class ; rdfs:label "myopathy, myofibrillar, 2" ; @@ -257392,8 +267053,6 @@ OMIM:608810 a owl:Class ; PMID:570292, PMID:8792816, PMID:9731540 ; - oboInOwl:hasDbXref UMLS:C1837317, - ORPHA:399058 ; oboInOwl:hasExactSynonym "MFM2", "alpha-b crystallinopathy", "myopathy, desmin-related, associated with mutation 1n the cryab gene", @@ -257401,13 +267060,15 @@ OMIM:608810 a owl:Class ; "myopathy, myofibrillar, alpha-b crystallin-related", "myopathy, myofibrillar, with or without cataract and/or cardiomyopathy" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C1837317, + ORPHA:399058 ; biolink:category biolink:Disease . OMIM:608811 a owl:Class ; rdfs:label "metaphyseal undermodeling, spondylar dysplasia, and overgrowth" ; IAO:0000142 PMID:15214018 ; - oboInOwl:hasDbXref UMLS:C1837316 ; - oboInOwl:hasExactSynonym "metaphyseal undermodeling, spondylar dysplasia, and overgrowth" . + oboInOwl:hasExactSynonym "metaphyseal undermodeling, spondylar dysplasia, and overgrowth" ; + skos:exactMatch UMLS:C1837316 . OMIM:608813 a owl:Class ; rdfs:label "DERL1" ; @@ -257415,21 +267076,22 @@ OMIM:608813 a owl:Class ; PMID:15215856, PMID:16901789, PMID:18519638 ; - oboInOwl:hasDbXref UMLS:C1539270 ; oboInOwl:hasExactSynonym "DERL1", "degradation 1n endoplasmic reticulum 1, yeast, homolog of", "der1-like domain family, member 1", "derlin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79139 ; - skos:exactMatch HGNC_symbol:DERL1 ; + skos:exactMatch UMLS:C1539270, + HGNC:28454, + HGNC_symbol:DERL1 ; biolink:category biolink:Gene . OMIM:608814 a owl:Class ; rdfs:label "lateral semicircular canal malformation, familial, with external and middle ear abnormalities" ; IAO:0000142 PMID:12522792 ; - oboInOwl:hasDbXref UMLS:C1837314 ; - oboInOwl:hasExactSynonym "lateral semicircular canal malformation, familial, with external and middle ear abnormalities" . + oboInOwl:hasExactSynonym "lateral semicircular canal malformation, familial, with external and middle ear abnormalities" ; + skos:exactMatch UMLS:C1837314 . OMIM:608815 a owl:Class ; rdfs:label "EFHC1" ; @@ -257442,28 +267104,30 @@ OMIM:608815 a owl:Class ; PMID:8737649 ; RO:0002525 CHR:9606chr6p12.2 ; RO:0003303 OMIM:254770 ; - oboInOwl:hasDbXref UMLS:C1424254 ; oboInOwl:hasExactSynonym "EFHC1", "ef-hand domain (c-terminal)-containing protein 1", "ef-hand domain-containing protein 1", "myoclonin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114327 ; - skos:exactMatch HGNC_symbol:EFHC1 ; + skos:exactMatch UMLS:C1424254, + HGNC:16406, + HGNC_symbol:EFHC1 ; biolink:category biolink:Gene . OMIM:608817 a owl:Class ; rdfs:label "LRRC4C" ; IAO:0000142 PMID:10997877, PMID:14595443 ; - oboInOwl:hasDbXref UMLS:C1825875 ; oboInOwl:hasExactSynonym "LRRC4C", "kiaa1580", "leucine-rich repeat-containing protein 4c", "netrin-g1 ligand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57689 ; - skos:exactMatch HGNC_symbol:LRRC4C ; + skos:exactMatch UMLS:C1825875, + HGNC:29317, + HGNC_symbol:LRRC4C ; biolink:category biolink:Gene . OMIM:608818 a owl:Class ; @@ -257475,22 +267139,21 @@ OMIM:608818 a owl:Class ; PMID:16502428, PMID:21572417, PMID:22495309 ; - oboInOwl:hasDbXref UMLS:C1428031 ; oboInOwl:hasExactSynonym "NTNG1", "kiaa0976", "laminet 1", "netrin g1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22854 ; - skos:exactMatch HGNC_symbol:NTNG1 ; + skos:exactMatch UMLS:C1428031, + HGNC:23319, + HGNC_symbol:NTNG1 ; biolink:category biolink:Gene . OMIM:608819 a owl:Class ; rdfs:label "KRTAP1-1" ; IAO:0000142 PMID:11279113, PMID:12228244 ; - oboInOwl:hasDbXref UMLS:C1424532, - UMLS:C1837306 ; oboInOwl:hasExactSynonym "KRTAP1-1", "b2a", "kap1.1", @@ -257501,15 +267164,16 @@ OMIM:608819 a owl:Class ; "keratin-associated protein 1-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81851 ; - skos:exactMatch HGNC_symbol:KRTAP1-1 ; + skos:exactMatch UMLS:C1424532, + UMLS:C1837306, + HGNC:16772, + HGNC_symbol:KRTAP1-1 ; biolink:category biolink:Gene . OMIM:608820 a owl:Class ; rdfs:label "KRTAP1-3" ; IAO:0000142 PMID:11279113, PMID:12228244 ; - oboInOwl:hasDbXref UMLS:C1424531, - UMLS:C1837301 ; oboInOwl:hasExactSynonym "KRTAP1-3", "b2b", "kap1.2", @@ -257520,33 +267184,38 @@ OMIM:608820 a owl:Class ; "keratin-associated protein 1-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81850 ; - skos:exactMatch HGNC_symbol:KRTAP1-3 ; + skos:exactMatch UMLS:C1424531, + UMLS:C1837301, + HGNC:16771, + HGNC_symbol:KRTAP1-3 ; biolink:category biolink:Gene . OMIM:608821 a owl:Class ; rdfs:label "KRTAP1-4" ; IAO:0000142 PMID:11279113, PMID:12228244 ; - oboInOwl:hasDbXref UMLS:C1425872 ; oboInOwl:hasExactSynonym "KRTAP1-4", "kap1.4", "keratin-associated protein 1-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728255 ; - skos:exactMatch HGNC_symbol:KRTAP1-4 ; + skos:exactMatch UMLS:C1425872, + HGNC:18904, + HGNC_symbol:KRTAP1-4 ; biolink:category biolink:Gene . OMIM:608822 a owl:Class ; rdfs:label "KRTAP1-5" ; IAO:0000142 PMID:11279113, PMID:12228244 ; - oboInOwl:hasDbXref UMLS:C1424537 ; oboInOwl:hasExactSynonym "KRTAP1-5", "kap1.5", "keratin-associated protein 1-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83895 ; - skos:exactMatch HGNC_symbol:KRTAP1-5 ; + skos:exactMatch UMLS:C1424537, + HGNC:16777, + HGNC_symbol:KRTAP1-5 ; biolink:category biolink:Gene . OMIM:608823 a owl:Class ; @@ -257556,12 +267225,13 @@ OMIM:608823 a owl:Class ; PMID:2468994, PMID:6194155, PMID:6319099 ; - oboInOwl:hasDbXref UMLS:C1424506 ; oboInOwl:hasExactSynonym "CGB1", "chorionic gonadotropin, beta polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114335 ; - skos:exactMatch HGNC_symbol:CGB1 ; + skos:exactMatch UMLS:C1424506, + HGNC:16721, + HGNC_symbol:CGB1 ; biolink:category biolink:Gene . OMIM:608824 a owl:Class ; @@ -257571,12 +267241,13 @@ OMIM:608824 a owl:Class ; PMID:2468994, PMID:6194155, PMID:6319099 ; - oboInOwl:hasDbXref UMLS:C1424507 ; oboInOwl:hasExactSynonym "CGB2", "chorionic gonadotropin, beta polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114336 ; - skos:exactMatch HGNC_symbol:CGB2 ; + skos:exactMatch UMLS:C1424507, + HGNC:16722, + HGNC_symbol:CGB2 ; biolink:category biolink:Gene . OMIM:608825 a owl:Class ; @@ -257585,12 +267256,13 @@ OMIM:608825 a owl:Class ; PMID:2452822, PMID:2468994, PMID:6319099 ; - oboInOwl:hasDbXref UMLS:C1424291 ; oboInOwl:hasExactSynonym "CGB5", "chorionic gonadotropin, beta polypeptide 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93659 ; - skos:exactMatch HGNC_symbol:CGB5 ; + skos:exactMatch UMLS:C1424291, + HGNC:16452, + HGNC_symbol:CGB5 ; biolink:category biolink:Gene . OMIM:608826 a owl:Class ; @@ -257599,13 +267271,14 @@ OMIM:608826 a owl:Class ; PMID:2452822, PMID:2468994, PMID:6319099 ; - oboInOwl:hasDbXref UMLS:C1424290 ; oboInOwl:hasExactSynonym "CGB7", "cgb6", "chorionic gonadotropin, beta polypeptide 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94027 ; - skos:exactMatch HGNC_symbol:CGB7 ; + skos:exactMatch UMLS:C1424290, + HGNC:16451, + HGNC_symbol:CGB7 ; biolink:category biolink:Gene . OMIM:608827 a owl:Class ; @@ -257614,12 +267287,13 @@ OMIM:608827 a owl:Class ; PMID:2452822, PMID:2468994, PMID:6319099 ; - oboInOwl:hasDbXref UMLS:C1424292 ; oboInOwl:hasExactSynonym "CGB8", "chorionic gonadotropin, beta polypeptide 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94115 ; - skos:exactMatch HGNC_symbol:CGB8 ; + skos:exactMatch UMLS:C1424292, + HGNC:16453, + HGNC_symbol:CGB8 ; biolink:category biolink:Gene . OMIM:608828 a owl:Class ; @@ -257636,7 +267310,6 @@ OMIM:608828 a owl:Class ; PMID:20424607, PMID:22722852, PMID:25190313 ; - oboInOwl:hasDbXref UMLS:C1709966 ; oboInOwl:hasExactSynonym "RNASEN", "drosha, drosophila, homolog of", "ribonuclease iii, nuclear", @@ -257644,7 +267317,9 @@ OMIM:608828 a owl:Class ; "rnase3l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29102 ; - skos:exactMatch HGNC_symbol:DROSHA ; + skos:exactMatch UMLS:C1709966, + HGNC:17904, + HGNC_symbol:DROSHA ; biolink:category biolink:Gene . OMIM:608829 a owl:Class ; @@ -257656,13 +267331,14 @@ OMIM:608829 a owl:Class ; PMID:15678137 ; RO:0002525 CHR:9606chr6q25.1 ; RO:0003303 OMIM:600320 ; - oboInOwl:hasDbXref UMLS:C1539897, - UMLS:C1838260 ; oboInOwl:hasExactSynonym "SUMO4", "small ubiquitin-like modifier 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387082 ; - skos:exactMatch HGNC_symbol:SUMO4 ; + skos:exactMatch UMLS:C1539897, + UMLS:C1838260, + HGNC:21181, + HGNC_symbol:SUMO4 ; biolink:category biolink:Gene . OMIM:608830 a owl:Class ; @@ -257675,13 +267351,14 @@ OMIM:608830 a owl:Class ; PMID:19140180 ; RO:0002525 CHR:9606chr14q24.1 ; RO:0003303 OMIM:612712 ; - oboInOwl:hasDbXref UMLS:C1426577 ; oboInOwl:hasExactSynonym "RDH12", "retinol dehydrogenase 12", "retinol dehydrogenase, all-trans and 9-cis" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145226 ; - skos:exactMatch HGNC_symbol:RDH12 ; + skos:exactMatch UMLS:C1426577, + HGNC:19977, + HGNC_symbol:RDH12 ; biolink:category biolink:Gene . OMIM:608832 a owl:Class ; @@ -257693,14 +267370,15 @@ OMIM:608832 a owl:Class ; PMID:26416033 ; RO:0002525 CHR:9606chr1q43 ; RO:0003303 OMIM:617275 ; - oboInOwl:hasDbXref UMLS:C1539615, - UMLS:C4310638 ; oboInOwl:hasExactSynonym "GREM2", "gremlin 2 homolog, cystine knot superfamily", "protein related to dan and cerberus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64388 ; - skos:exactMatch HGNC_symbol:GREM2 ; + skos:exactMatch UMLS:C1539615, + UMLS:C4310638, + HGNC:17655, + HGNC_symbol:GREM2 ; biolink:category biolink:Gene . OMIM:608834 a owl:Class ; @@ -257709,27 +267387,29 @@ OMIM:608834 a owl:Class ; PMID:12915480, PMID:12960807, PMID:15139001 ; - oboInOwl:hasDbXref UMLS:C1428221, - UMLS:C1850932 ; oboInOwl:hasExactSynonym "CREB3L2", "bbf2h7", "camp response element-binding protein 3-like 2", "creb3l2/fus fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64764 ; - skos:exactMatch HGNC_symbol:CREB3L2 ; + skos:exactMatch UMLS:C1428221, + UMLS:C1850932, + HGNC:23720, + HGNC_symbol:CREB3L2 ; biolink:category biolink:Gene . OMIM:608835 a owl:Class ; rdfs:label "ABCC13" ; IAO:0000142 PMID:12445816, PMID:15203202 ; - oboInOwl:hasDbXref UMLS:C1423916 ; oboInOwl:hasExactSynonym "ABCC13", "atp-binding cassette, subfamily c, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150000 ; - skos:exactMatch HGNC_symbol:ABCC13 ; + skos:exactMatch UMLS:C1423916, + HGNC:16022, + HGNC_symbol:ABCC13 ; biolink:category biolink:Gene . OMIM:608836 a owl:Class ; @@ -257746,12 +267426,12 @@ OMIM:608836 a owl:Class ; PMID:7658272, PMID:7767092, PMID:9924637 ; - oboInOwl:hasDbXref UMLS:C1833518 ; oboInOwl:hasExactSynonym "carnitine palmitoyltransferase 2 deficiency, antenatal", "carnitine palmitoyltransferase 2 deficiency, lethal neonatal", "carnitine palmitoyltransferase 2 deficiency, neonatal", "cpt 2 deficiency, lethal neonatal", "cpt2 deficiency, lethal neonatal" ; + skos:exactMatch UMLS:C1833518 ; biolink:category biolink:Disease . OMIM:608837 a owl:Class ; @@ -257760,31 +267440,33 @@ OMIM:608837 a owl:Class ; PMID:15590965, PMID:1600999, PMID:17041932 ; - oboInOwl:hasDbXref UMLS:C1837245 ; oboInOwl:hasExactSynonym "carney complex variant" ; + skos:exactMatch UMLS:C1837245 ; biolink:category biolink:Disease . OMIM:608838 a owl:Class ; rdfs:label "VKORC1L1" ; IAO:0000142 PMID:14765194, PMID:23928358 ; - oboInOwl:hasDbXref UMLS:C1427581 ; oboInOwl:hasExactSynonym "VKORC1L1", "vitamin k epoxide reductase complex, subunit 1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154807 ; - skos:exactMatch HGNC_symbol:VKORC1L1 ; + skos:exactMatch UMLS:C1427581, + HGNC:21492, + HGNC_symbol:VKORC1L1 ; biolink:category biolink:Gene . OMIM:608839 a owl:Class ; rdfs:label "CAPN12" ; IAO:0000142 PMID:10964513 ; - oboInOwl:hasDbXref UMLS:C1421904 ; oboInOwl:hasExactSynonym "CAPN12", "calpain 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147968 ; - skos:exactMatch HGNC_symbol:CAPN12 ; + skos:exactMatch UMLS:C1421904, + HGNC:13249, + HGNC_symbol:CAPN12 ; biolink:category biolink:Gene . OMIM:608841 a owl:Class ; @@ -257794,35 +267476,38 @@ OMIM:608841 a owl:Class ; PMID:27839872 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:617319 ; - oboInOwl:hasDbXref UMLS:C1539133 ; oboInOwl:hasExactSynonym "CPAMD8", "c3- and pzp-like a2m domain-containing protein 8", "complement component 3- and pregnancy zone protein-like alpha-2-macroglobulin domain-containing protein 8", "kiaa1283" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27151 ; - skos:exactMatch HGNC_symbol:CPAMD8 ; + skos:exactMatch UMLS:C1539133, + HGNC:23228, + HGNC_symbol:CPAMD8 ; biolink:category biolink:Gene . OMIM:608842 a owl:Class ; rdfs:label "CHCHD1" ; IAO:0000142 PMID:15177562 ; - oboInOwl:hasDbXref UMLS:C1538449 ; oboInOwl:hasExactSynonym "CHCHD1", "coiled-coil-helix-coiled-coil-helix domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118487 ; - skos:exactMatch HGNC_symbol:CHCHD1 ; + skos:exactMatch UMLS:C1538449, + HGNC:23518, + HGNC_symbol:CHCHD1 ; biolink:category biolink:Gene . OMIM:608843 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15247411 ; - oboInOwl:hasDbXref UMLS:C1823617 ; oboInOwl:hasExactSynonym "vasorin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114990 ; - skos:exactMatch HGNC_symbol:VASN ; + skos:exactMatch UMLS:C1823617, + HGNC:18517, + HGNC_symbol:VASN ; biolink:category biolink:Gene . OMIM:608844 a owl:Class ; @@ -257833,14 +267518,15 @@ OMIM:608844 a owl:Class ; PMID:14522990, PMID:15232006, PMID:16446448 ; - oboInOwl:hasDbXref UMLS:C1425521 ; oboInOwl:hasExactSynonym "NEIL1", "endonuclease viii-like 1", "fpg1", "nei1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79661 ; - skos:exactMatch HGNC_symbol:NEIL1 ; + skos:exactMatch UMLS:C1425521, + HGNC:18448, + HGNC_symbol:NEIL1 ; biolink:category biolink:Gene . OMIM:608845 a owl:Class ; @@ -257859,17 +267545,18 @@ OMIM:608845 a owl:Class ; PMID:9714014 ; RO:0002525 CHR:9606chr3q11.2 ; RO:0003303 OMIM:209900 ; - oboInOwl:hasDbXref UMLS:C1421880, - UMLS:C1859564, - UMLS:C2675305, - UMLS:C3150808 ; oboInOwl:hasExactSynonym "ARL6", "adp-ribosylation factor-like gtpase 6", "arf-like 6", "bbs3 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84100 ; - skos:exactMatch HGNC_symbol:ARL6 ; + skos:exactMatch UMLS:C1421880, + UMLS:C1859564, + UMLS:C2675305, + UMLS:C3150808, + HGNC:13210, + HGNC_symbol:ARL6 ; biolink:category biolink:Gene . OMIM:608846 a owl:Class ; @@ -257882,14 +267569,15 @@ OMIM:608846 a owl:Class ; PMID:25751282 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:616282 ; - oboInOwl:hasDbXref UMLS:C1425585 ; oboInOwl:hasExactSynonym "CPT1C", "carnitine palmitoyltransferase 1c", "carnitine palmitoyltransferase i, brain", "carnitine palmitoyltransferase-i related c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126129 ; - skos:exactMatch HGNC_symbol:CPT1C ; + skos:exactMatch UMLS:C1425585, + HGNC:18540, + HGNC_symbol:CPT1C ; biolink:category biolink:Gene . OMIM:608847 a owl:Class ; @@ -257899,39 +267587,42 @@ OMIM:608847 a owl:Class ; PMID:12406866, PMID:15282205, PMID:18815198 ; - oboInOwl:hasDbXref UMLS:C1539539 ; oboInOwl:hasExactSynonym "FTMT", "ferritin, mitochondrial", "mitochondrial ferritin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94033 ; - skos:exactMatch HGNC_symbol:FTMT ; + skos:exactMatch UMLS:C1539539, + HGNC:17345, + HGNC_symbol:FTMT ; biolink:category biolink:Gene . OMIM:608848 a owl:Class ; rdfs:label "FNBP1L" ; IAO:0000142 PMID:15260990 ; - oboInOwl:hasDbXref UMLS:C1539523 ; oboInOwl:hasExactSynonym "FNBP1L", "chromosome 1 open reading frame 39", "formin-binding protein 1-like", "transducer of cdc42-dependent actin assembly 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54874 ; - skos:exactMatch HGNC_symbol:FNBP1L ; + skos:exactMatch UMLS:C1539523, + HGNC:20851, + HGNC_symbol:FNBP1L ; biolink:category biolink:Gene . OMIM:608849 a owl:Class ; rdfs:label "UHMK1" ; IAO:0000142 PMID:12093740, PMID:12782393 ; - oboInOwl:hasDbXref UMLS:C1540160 ; oboInOwl:hasExactSynonym "UHMK1", "kinase-interacting stathmin", "u2af homology motif kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127933 ; - skos:exactMatch HGNC_symbol:UHMK1 ; + skos:exactMatch UMLS:C1540160, + HGNC:19683, + HGNC_symbol:UHMK1 ; biolink:category biolink:Gene . OMIM:608851 a owl:Class ; @@ -257941,13 +267632,14 @@ OMIM:608851 a owl:Class ; PMID:19194460, PMID:19734881, PMID:7885830 ; - oboInOwl:hasDbXref UMLS:C1421549 ; oboInOwl:hasExactSynonym "5-prime,3-prime-exoribonuclease 2", "XRN2", "dhm1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22803 ; - skos:exactMatch HGNC_symbol:XRN2 ; + skos:exactMatch UMLS:C1421549, + HGNC:12836, + HGNC_symbol:XRN2 ; biolink:category biolink:Gene . OMIM:608853 a owl:Class ; @@ -257955,74 +267647,80 @@ OMIM:608853 a owl:Class ; IAO:0000142 PMID:15069058, PMID:17220890, PMID:25027842 ; - oboInOwl:hasDbXref UMLS:C1837221 ; oboInOwl:hasExactSynonym "BLID", "bh3-like motif-containing cell death inducer", "breast cancer cell 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:414899 ; - skos:exactMatch HGNC_symbol:BLID ; + skos:exactMatch UMLS:C1837221, + HGNC:33495, + HGNC_symbol:BLID ; biolink:category biolink:Gene . OMIM:608854 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12819961 ; - oboInOwl:hasDbXref UMLS:C1823722 ; oboInOwl:hasExactSynonym "nor1", "oxidored-nitro domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127700 ; - skos:exactMatch HGNC_symbol:OSCP1 ; + skos:exactMatch UMLS:C1823722, + HGNC:29971, + HGNC_symbol:OSCP1 ; biolink:category biolink:Gene . OMIM:608855 a owl:Class ; rdfs:label "TTYH2" ; IAO:0000142 PMID:11597145, PMID:15010458 ; - oboInOwl:hasDbXref UMLS:C1422250 ; oboInOwl:hasExactSynonym "TTYH2", "tweety family member 2", "tweety, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94015 ; - skos:exactMatch HGNC_symbol:TTYH2 ; + skos:exactMatch UMLS:C1422250, + HGNC:13877, + HGNC_symbol:TTYH2 ; biolink:category biolink:Gene . OMIM:608856 a owl:Class ; rdfs:label "CTAGE1" ; IAO:0000142 PMID:11149944, PMID:12839582 ; - oboInOwl:hasDbXref UMLS:C1539145 ; oboInOwl:hasExactSynonym "CTAGE1", "cutaneous t-cell lymphoma-associated antigen 1", "cutaneous t-cell lymphoma-associated antigen 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64693 ; - skos:exactMatch HGNC_symbol:CTAGE1 ; + skos:exactMatch UMLS:C1539145, + HGNC:24346, + HGNC_symbol:CTAGE1 ; biolink:category biolink:Gene . OMIM:608857 a owl:Class ; rdfs:label "CTAGE3" ; IAO:0000142 PMID:12839582 ; - oboInOwl:hasDbXref UMLS:C1539146 ; oboInOwl:hasExactSynonym "CTAGE3", "cutaneous t-cell lymphoma-associated antigen 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220112 ; - skos:exactMatch HGNC_symbol:CTAGE3P ; + skos:exactMatch UMLS:C1539146, + HGNC:24348, + HGNC_symbol:CTAGE3P ; biolink:category biolink:Gene . OMIM:608858 a owl:Class ; rdfs:label "FGFR1OP2" ; IAO:0000142 PMID:15034873 ; - oboInOwl:hasDbXref UMLS:C1427915, - UMLS:C1851030 ; oboInOwl:hasExactSynonym "FGFR1OP2", "fgfr1op2/fgfr1 fusion gene", "fibroblast growth factor receptor 1 oncogene partner 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26127 ; - skos:exactMatch HGNC_symbol:FGFR1OP2 ; + skos:exactMatch UMLS:C1427915, + UMLS:C1851030, + HGNC:23098, + HGNC_symbol:FGFR1OP2 ; biolink:category biolink:Gene . OMIM:608859 a owl:Class ; @@ -258032,13 +267730,14 @@ OMIM:608859 a owl:Class ; PMID:12799300, PMID:14980714, PMID:2346781 ; - oboInOwl:hasDbXref UMLS:C1427694 ; oboInOwl:hasExactSynonym "CD109", "cd109 antigen", "platelet-specific antigen system gov" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135228 ; - skos:exactMatch HGNC_symbol:CD109 ; + skos:exactMatch UMLS:C1427694, + HGNC:21685, + HGNC_symbol:CD109 ; biolink:category biolink:Gene . OMIM:608860 a owl:Class ; @@ -258048,13 +267747,14 @@ OMIM:608860 a owl:Class ; PMID:28911209 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:619643 ; - oboInOwl:hasDbXref UMLS:C1540209 ; oboInOwl:hasExactSynonym "ASTL", "astacin-like metalloendopeptidase", "ovastacin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:431705 ; - skos:exactMatch HGNC_symbol:ASTL ; + skos:exactMatch UMLS:C1540209, + HGNC:31704, + HGNC_symbol:ASTL ; biolink:category biolink:Gene . OMIM:608861 a owl:Class ; @@ -258062,14 +267762,15 @@ OMIM:608861 a owl:Class ; IAO:0000142 PMID:12032142, PMID:12058068, PMID:9620685 ; - oboInOwl:hasDbXref UMLS:C1425433 ; oboInOwl:hasExactSynonym "ATP6V1H", "atpase, h+ transporting, lysosomal, 50/57-kd, v1 subunit h", "nef-binding protein 1", "vma13, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51606 ; - skos:exactMatch HGNC_symbol:ATP6V1H ; + skos:exactMatch UMLS:C1425433, + HGNC:18303, + HGNC_symbol:ATP6V1H ; biolink:category biolink:Gene . OMIM:608862 a owl:Class ; @@ -258082,7 +267783,6 @@ OMIM:608862 a owl:Class ; PMID:27616477 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:617186 ; - oboInOwl:hasDbXref UMLS:C1425525 ; oboInOwl:hasExactSynonym "NAXE", "apoa-i-binding protein", "apoa1-binding protein", @@ -258092,7 +267792,9 @@ OMIM:608862 a owl:Class ; "yjefn domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128240 ; - skos:exactMatch HGNC_symbol:NAXE ; + skos:exactMatch UMLS:C1425525, + HGNC:18453, + HGNC_symbol:NAXE ; biolink:category biolink:Gene . OMIM:608863 a owl:Class ; @@ -258106,7 +267808,6 @@ OMIM:608863 a owl:Class ; PMID:25415436, PMID:29899446, PMID:9651190 ; - oboInOwl:hasDbXref UMLS:C1826560 ; oboInOwl:hasExactSynonym "PDPN", "aggrus", "glycoprotein, 36-kd", @@ -258116,14 +267817,15 @@ OMIM:608863 a owl:Class ; "t1a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10630 ; - skos:exactMatch HGNC_symbol:PDPN ; + skos:exactMatch UMLS:C1826560, + HGNC:29602, + HGNC_symbol:PDPN ; biolink:category biolink:Gene . OMIM:608865 a owl:Class ; rdfs:label "URB1" ; IAO:0000142 PMID:15226434, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1424918 ; oboInOwl:hasExactSynonym "URB1", "chromosome 21 open reading frame 108", "kiaa0539", @@ -258131,7 +267833,9 @@ OMIM:608865 a owl:Class ; "urb1 ribosome biogenesis 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9875 ; - skos:exactMatch HGNC_symbol:URB1 ; + skos:exactMatch UMLS:C1424918, + HGNC:17344, + HGNC_symbol:URB1 ; biolink:category biolink:Gene . OMIM:608866 a owl:Class ; @@ -258143,9 +267847,6 @@ OMIM:608866 a owl:Class ; PMID:6428224, PMID:7081222, PMID:7395866 ; - oboInOwl:hasDbXref UMLS:C1414693, - UMLS:C1837212, - UMLS:C3147312 ; oboInOwl:hasExactSynonym "FRA10AC1", "chromosome 10 open reading frame 4", "fra10a, candidate gene 1", @@ -258154,7 +267855,11 @@ OMIM:608866 a owl:Class ; "fragile site, folic acid-type, rare, fra(10)(q23.3), candidate gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118924 ; - skos:exactMatch HGNC_symbol:FRA10AC1 ; + skos:exactMatch UMLS:C1414693, + UMLS:C1837212, + UMLS:C3147312, + HGNC:1162, + HGNC_symbol:FRA10AC1 ; biolink:category biolink:Gene . OMIM:608867 a owl:Class ; @@ -258162,13 +267867,14 @@ OMIM:608867 a owl:Class ; IAO:0000142 PMID:10391943, PMID:15306813, PMID:19228121 ; - oboInOwl:hasDbXref UMLS:C1414181 ; oboInOwl:hasExactSynonym "DUSP10", "dual-specificity phosphatase 10", "map kinase phosphatase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11221 ; - skos:exactMatch HGNC_symbol:DUSP10 ; + skos:exactMatch UMLS:C1414181, + HGNC:3065, + HGNC_symbol:DUSP10 ; biolink:category biolink:Gene . OMIM:608868 a owl:Class ; @@ -258176,13 +267882,14 @@ OMIM:608868 a owl:Class ; IAO:0000142 PMID:11414704, PMID:15203213, PMID:16877544 ; - oboInOwl:hasDbXref UMLS:C1424933 ; oboInOwl:hasExactSynonym "LRIG1", "leucine-rich repeats- and immunoglobulin-like domains-containing protein 1", "lig1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26018 ; - skos:exactMatch HGNC_symbol:LRIG1 ; + skos:exactMatch UMLS:C1424933, + HGNC:17360, + HGNC_symbol:LRIG1 ; biolink:category biolink:Gene . OMIM:608869 a owl:Class ; @@ -258193,33 +267900,34 @@ OMIM:608869 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr1p13.2 ; RO:0003303 OMIM:615112 ; - oboInOwl:hasDbXref UMLS:C1427192 ; oboInOwl:hasExactSynonym "LRIG2", "kiaa0806", "leucine-rich repeats- and immunoglobulin-like domains-containing protein 2", "lig2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9860 ; - skos:exactMatch HGNC_symbol:LRIG2 ; + skos:exactMatch UMLS:C1427192, + HGNC:20889, + HGNC_symbol:LRIG2 ; biolink:category biolink:Gene . OMIM:608870 a owl:Class ; rdfs:label "LRIG3" ; IAO:0000142 PMID:15203213 ; - oboInOwl:hasDbXref UMLS:C1537590 ; oboInOwl:hasExactSynonym "LRIG3", "leucine-rich repeats- and immunoglobulin-like domains-containing protein 3", "lig3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121227 ; - skos:exactMatch HGNC_symbol:LRIG3 ; + skos:exactMatch UMLS:C1537590, + HGNC:30991, + HGNC_symbol:LRIG3 ; biolink:category biolink:Gene . OMIM:608871 a owl:Class ; rdfs:label "NIPSNAP3A" ; IAO:0000142 PMID:12427096, PMID:15177564 ; - oboInOwl:hasDbXref UMLS:C1428165 ; oboInOwl:hasExactSynonym "NIPSNAP3A", "nipsnap homolog 3a", "nipsnap, c. elegans, homolog of, 3a", @@ -258227,20 +267935,23 @@ OMIM:608871 a owl:Class ; "target for salmonella secreted protein c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25934 ; - skos:exactMatch HGNC_symbol:NIPSNAP3A ; + skos:exactMatch UMLS:C1428165, + HGNC:23619, + HGNC_symbol:NIPSNAP3A ; biolink:category biolink:Gene . OMIM:608872 a owl:Class ; rdfs:label "NIPSNAP3B" ; IAO:0000142 PMID:15177564 ; - oboInOwl:hasDbXref UMLS:C1428178 ; oboInOwl:hasExactSynonym "NIPSNAP3B", "nipsnap homolog 3b", "nipsnap, c. elegans, homolog of, 3b", "nipsnap3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55335 ; - skos:exactMatch HGNC_symbol:NIPSNAP3B ; + skos:exactMatch UMLS:C1428178, + HGNC:23641, + HGNC_symbol:NIPSNAP3B ; biolink:category biolink:Gene . OMIM:608873 a owl:Class ; @@ -258252,13 +267963,14 @@ OMIM:608873 a owl:Class ; PMID:32169168 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:618876 ; - oboInOwl:hasDbXref UMLS:C1419957, - UMLS:C5394362 ; oboInOwl:hasExactSynonym "SEMA6B", "semaphorin 6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10501 ; - skos:exactMatch HGNC_symbol:SEMA6B ; + skos:exactMatch UMLS:C1419957, + UMLS:C5394362, + HGNC:10739, + HGNC_symbol:SEMA6B ; biolink:category biolink:Gene . OMIM:608874 a owl:Class ; @@ -258270,14 +267982,14 @@ OMIM:608874 a owl:Class ; PMID:16327884, PMID:16868654, PMID:9683588 ; - oboInOwl:hasDbXref UMLS:C1837210, - ORPHA:141291, - ORPHA:199302, - ORPHA:199306 ; oboInOwl:hasExactSynonym "OFC5", "cleft 51p with or without cleft palate, nonsyndromic, 5", "orofacial cleft 5" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1837210, + ORPHA:141291, + ORPHA:199302, + ORPHA:199306 ; biolink:category biolink:Disease . OMIM:608876 a owl:Class ; @@ -258285,14 +267997,15 @@ OMIM:608876 a owl:Class ; IAO:0000142 PMID:10048485, PMID:11060040, PMID:15241417 ; - oboInOwl:hasDbXref UMLS:C1826547 ; oboInOwl:hasExactSynonym "PCF11", "kiaa0824", "pcf11 cleavage and polyadenylation factor subunit", "pcf11, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51585 ; - skos:exactMatch HGNC_symbol:PCF11 ; + skos:exactMatch UMLS:C1826547, + HGNC:30097, + HGNC_symbol:PCF11 ; biolink:category biolink:Gene . OMIM:608877 a owl:Class ; @@ -258304,13 +268017,14 @@ OMIM:608877 a owl:Class ; PMID:29604224 ; RO:0002525 CHR:9606chr1p36.22-p36.21 ; RO:0003303 OMIM:607317 ; - oboInOwl:hasDbXref UMLS:C1428143 ; oboInOwl:hasExactSynonym "VPS13D", "vacuolar protein sorting 13 homolog d", "vacuolar protein sorting 13, yeast, homolog of, d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55187 ; - skos:exactMatch HGNC_symbol:VPS13D ; + skos:exactMatch UMLS:C1428143, + HGNC:23595, + HGNC_symbol:VPS13D ; biolink:category biolink:Gene . OMIM:608879 a owl:Class ; @@ -258321,14 +268035,15 @@ OMIM:608879 a owl:Class ; PMID:26942284 ; RO:0002525 CHR:9606chr15q22.2 ; RO:0003303 OMIM:616840 ; - oboInOwl:hasDbXref UMLS:C1428142 ; oboInOwl:hasExactSynonym "VPS13C", "kiaa1421", "vacuolar protein sorting 13 homolog c", "vacuolar protein sorting 13, yeast, homolog of, c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54832 ; - skos:exactMatch HGNC_symbol:VPS13C ; + skos:exactMatch UMLS:C1428142, + HGNC:23594, + HGNC_symbol:VPS13C ; biolink:category biolink:Gene . OMIM:608880 a owl:Class ; @@ -258336,14 +268051,15 @@ OMIM:608880 a owl:Class ; IAO:0000142 PMID:11546807, PMID:14613930, PMID:17570516 ; - oboInOwl:hasDbXref UMLS:C1427113 ; oboInOwl:hasExactSynonym "ZFYVE16", "endosome-associated fyve domain protein", "kiaa0305", "zinc finger fyve domain-containing protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9765 ; - skos:exactMatch HGNC_symbol:ZFYVE16 ; + skos:exactMatch UMLS:C1427113, + HGNC:20756, + HGNC_symbol:ZFYVE16 ; biolink:category biolink:Gene . OMIM:608882 a owl:Class ; @@ -258351,14 +268067,15 @@ OMIM:608882 a owl:Class ; IAO:0000142 PMID:10718198, PMID:12110185, PMID:25403488 ; - oboInOwl:hasDbXref UMLS:C1537696 ; oboInOwl:hasExactSynonym "MICAL3", "flavoprotein oxidoreductase mical3", "kiaa1364", "microtubule-associated monooxygenase, calponin and 51m domains-containing, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57553 ; - skos:exactMatch HGNC_symbol:MICAL3 ; + skos:exactMatch UMLS:C1537696, + HGNC:24694, + HGNC_symbol:MICAL3 ; biolink:category biolink:Gene . OMIM:608883 a owl:Class ; @@ -258374,8 +268091,6 @@ OMIM:608884 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr14q13.2 ; RO:0003303 OMIM:618797 ; - oboInOwl:hasDbXref UMLS:C1425072, - UMLS:C5394091 ; oboInOwl:hasExactSynonym "RALGAPA1", "gap-related interacting protein to e12", "gtpase-activating rap/ran-gap domain-like 1", @@ -258385,7 +268100,10 @@ OMIM:608884 a owl:Class ; "tuberin-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253959 ; - skos:exactMatch HGNC_symbol:RALGAPA1 ; + skos:exactMatch UMLS:C1425072, + UMLS:C5394091, + HGNC:17770, + HGNC_symbol:RALGAPA1 ; biolink:category biolink:Gene . OMIM:608885 a owl:Class ; @@ -258394,11 +268112,11 @@ OMIM:608885 a owl:Class ; PMID:21791420, PMID:22492876, PMID:7174793 ; - oboInOwl:hasDbXref UMLS:C1837206 ; oboInOwl:hasExactSynonym "SDCHCN", "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly", "glut1 deficiency syndrome with pseudohyperkalemia and hemolysis", "stomatin-deficient cryohydrocytosis with neurologic defects" ; + skos:exactMatch UMLS:C1837206 ; biolink:category biolink:Disease . OMIM:608886 a owl:Class ; @@ -258414,7 +268132,6 @@ OMIM:608886 a owl:Class ; PMID:19252502, PMID:19297390, PMID:21307849 ; - oboInOwl:hasDbXref UMLS:C1428918 ; oboInOwl:hasExactSynonym "PPARGC1B", "estrogen receptor-related receptor ligand 1", "peroxisome proliferator-activated receptor-gamma, coactivator 1, beta", @@ -258423,7 +268140,9 @@ OMIM:608886 a owl:Class ; "ppar-gamma coactivator 1-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133522 ; - skos:exactMatch HGNC_symbol:PPARGC1B ; + skos:exactMatch UMLS:C1428918, + HGNC:30022, + HGNC_symbol:PPARGC1B ; biolink:category biolink:Gene . OMIM:608887 a owl:Class ; @@ -258431,48 +268150,52 @@ OMIM:608887 a owl:Class ; IAO:0000142 PMID:1448097, PMID:8798674, PMID:9334258 ; - oboInOwl:hasDbXref UMLS:C1419138 ; oboInOwl:hasExactSynonym "PURB", "pur-beta", "purine-rich element-binding protein B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5814 ; - skos:exactMatch HGNC_symbol:PURB ; + skos:exactMatch UMLS:C1419138, + HGNC:9702, + HGNC_symbol:PURB ; biolink:category biolink:Gene . OMIM:608888 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12220514 ; - oboInOwl:hasDbXref UMLS:C1837204 ; oboInOwl:hasExactSynonym "developmentally regulated rna-binding protein 1", "drb1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129831 ; - skos:exactMatch HGNC_symbol:RBM45 ; + skos:exactMatch UMLS:C1837204, + HGNC:24468, + HGNC_symbol:RBM45 ; biolink:category biolink:Gene . OMIM:608889 a owl:Class ; rdfs:label "ACMSD" ; IAO:0000142 PMID:12140278, PMID:30356218 ; - oboInOwl:hasDbXref UMLS:C1426143 ; oboInOwl:hasExactSynonym "ACMSD", "aminocarboxymuconate semialdehyde decarboxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130013 ; - skos:exactMatch HGNC_symbol:ACMSD ; + skos:exactMatch UMLS:C1426143, + HGNC:19288, + HGNC_symbol:ACMSD ; biolink:category biolink:Gene . OMIM:608891 a owl:Class ; rdfs:label "OSR1" ; IAO:0000142 PMID:12119563 ; - oboInOwl:hasDbXref UMLS:C1418191 ; oboInOwl:hasExactSynonym "OSR1", "odd-skipped, drosophila, homolog of", "odd-skipped-related transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130497 ; - skos:exactMatch HGNC_symbol:OSR1 ; + skos:exactMatch UMLS:C1418191, + HGNC:8111, + HGNC_symbol:OSR1 ; biolink:category biolink:Gene . OMIM:608892 a owl:Class ; @@ -258506,13 +268229,14 @@ OMIM:608892 a owl:Class ; PMID:25996639 ; RO:0002525 CHR:9606chr8q12.2 ; RO:0003303 OMIM:612370 ; - oboInOwl:hasDbXref UMLS:C1427038 ; oboInOwl:hasExactSynonym "CHD7", "chromodomain helicase dna-binding protein 7", "kiaa1416" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55636 ; - skos:exactMatch HGNC_symbol:CHD7 ; + skos:exactMatch UMLS:C1427038, + HGNC:20626, + HGNC_symbol:CHD7 ; biolink:category biolink:Gene . OMIM:608893 a owl:Class ; @@ -258527,16 +268251,17 @@ OMIM:608893 a owl:Class ; PMID:32132184 ; RO:0002525 CHR:9606chr5p15.33 ; RO:0003303 OMIM:242600 ; - oboInOwl:hasDbXref UMLS:C0018609, - UMLS:C0543541, - UMLS:C1428660, - UMLS:C3148959 ; oboInOwl:hasExactSynonym "SLC6A19", "solute carrier family 6 (neurotransmitter transporter), member 19", "system b(0) neutral amino acid transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340024 ; - skos:exactMatch HGNC_symbol:SLC6A19 ; + skos:exactMatch UMLS:C0018609, + UMLS:C0543541, + UMLS:C1428660, + UMLS:C3148959, + HGNC:27960, + HGNC_symbol:SLC6A19 ; biolink:category biolink:Gene . OMIM:608894 a owl:Class ; @@ -258560,13 +268285,14 @@ OMIM:608894 a owl:Class ; PMID:25616960 ; RO:0002525 CHR:9606chr6q23.3 ; RO:0003303 OMIM:608629 ; - oboInOwl:hasDbXref UMLS:C1427622 ; oboInOwl:hasExactSynonym "AHI1", "abelson helper integration site 1", "jouberin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54806 ; - skos:exactMatch HGNC_symbol:AHI1 ; + skos:exactMatch UMLS:C1427622, + HGNC:21575, + HGNC_symbol:AHI1 ; biolink:category biolink:Gene . OMIM:608896 a owl:Class ; @@ -258585,13 +268311,14 @@ OMIM:608896 a owl:Class ; PMID:9781048 ; RO:0002525 CHR:9606chr13q12.12 ; RO:0003303 OMIM:253700 ; - oboInOwl:hasDbXref UMLS:C1420009 ; oboInOwl:hasExactSynonym "SGCG", "dystrophin-associated glycoprotein, 35-kd", "sarcoglycan, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6445 ; - skos:exactMatch HGNC_symbol:SGCG ; + skos:exactMatch UMLS:C1420009, + HGNC:10809, + HGNC_symbol:SGCG ; biolink:category biolink:Gene . OMIM:608897 a owl:Class ; @@ -258604,38 +268331,41 @@ OMIM:608897 a owl:Class ; PMID:20435885 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:608898 ; - oboInOwl:hasDbXref UMLS:C1427947 ; oboInOwl:hasExactSynonym "UNC13D", "munc13-4", "unc13 homolog d", "unc13, c. elegans, homolog of, d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201294 ; - skos:exactMatch HGNC_symbol:UNC13D ; + skos:exactMatch UMLS:C1427947, + HGNC:23147, + HGNC_symbol:UNC13D ; biolink:category biolink:Gene . OMIM:608899 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15100712, PMID:15243160 ; - oboInOwl:hasDbXref UMLS:C1825426 ; oboInOwl:hasExactSynonym "gtf2i repeat domain-containing protein 2, alpha", "gtf2ird2", "gtf2ird2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84163 ; - skos:exactMatch HGNC_symbol:GTF2IRD2 ; + skos:exactMatch UMLS:C1825426, + HGNC:30775, + HGNC_symbol:GTF2IRD2 ; biolink:category biolink:Gene . OMIM:608900 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15100712 ; - oboInOwl:hasDbXref UMLS:C1825427 ; oboInOwl:hasExactSynonym "gtf2i repeat domain-containing protein 2, beta", "gtf2ird2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389524 ; - skos:exactMatch HGNC_symbol:GTF2IRD2B ; + skos:exactMatch UMLS:C1825427, + HGNC:33125, + HGNC_symbol:GTF2IRD2B ; biolink:category biolink:Gene . OMIM:608901 a owl:Class ; @@ -258645,33 +268375,35 @@ OMIM:608901 a owl:Class ; PMID:17044848, PMID:17357071 ; RO:0002525 CHR:9606chr3q13 ; - oboInOwl:hasDbXref UMLS:C1837173 ; oboInOwl:hasExactSynonym "chds5", "coronary artery disease, early-onset", "coronary heart disease, susceptibility to, 5" ; + skos:exactMatch UMLS:C1837173 ; biolink:category biolink:Disease . OMIM:608909 a owl:Class ; rdfs:label "ARL5B" ; IAO:0000142 PMID:12853149 ; - oboInOwl:hasDbXref UMLS:C1824206 ; oboInOwl:hasExactSynonym "ARL5B", "adp-ribosylation factor-like 8", "adp-ribosylation factor-like gtpase 5b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221079 ; - skos:exactMatch HGNC_symbol:ARL5B ; + skos:exactMatch UMLS:C1824206, + HGNC:23052, + HGNC_symbol:ARL5B ; biolink:category biolink:Gene . OMIM:608910 a owl:Class ; rdfs:label "CTAGE4" ; IAO:0000142 PMID:12839582 ; - oboInOwl:hasDbXref UMLS:C1539147 ; oboInOwl:hasExactSynonym "CTAGE4", "cutaneous t-cell lymphoma-associated antigen 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100128553 ; - skos:exactMatch HGNC_symbol:CTAGE4 ; + skos:exactMatch UMLS:C1539147, + HGNC:24772, + HGNC_symbol:CTAGE4 ; biolink:category biolink:Gene . OMIM:608911 a owl:Class ; @@ -258690,36 +268422,38 @@ OMIM:608911 a owl:Class ; PMID:9041289, PMID:9450891, PMID:9856581 ; - oboInOwl:hasDbXref UMLS:C0220723 ; oboInOwl:hasExactSynonym "PCA", "choanal atresia, posterior" ; + skos:exactMatch UMLS:C0220723 ; biolink:category biolink:Disease . OMIM:608912 a owl:Class ; rdfs:label "POTEB" ; IAO:0000142 PMID:12475935, PMID:15276201 ; - oboInOwl:hasDbXref UMLS:C1837147 ; oboInOwl:hasExactSynonym "POTEB", "pote ankyrin domain family, member B", "prostate-, ovary-, testis-, and placenta-expressed gene on chromosome 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100996331 ; - skos:exactMatch HGNC_symbol:POTEB ; + skos:exactMatch UMLS:C1837147, + HGNC:33734, + HGNC_symbol:POTEB ; biolink:category biolink:Gene . OMIM:608913 a owl:Class ; rdfs:label "POTEH" ; IAO:0000142 PMID:12475935, PMID:15276201 ; - oboInOwl:hasDbXref UMLS:C1412138 ; oboInOwl:hasExactSynonym "POTEH", "actin, beta-like, 1", "pote ankyrin domain family, member h", "prostate-, ovary-, testis-, and placenta-expressed gene on chromosome 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23784 ; - skos:exactMatch HGNC_symbol:POTEH ; + skos:exactMatch UMLS:C1412138, + HGNC:133, + HGNC_symbol:POTEH ; biolink:category biolink:Gene . OMIM:608914 a owl:Class ; @@ -258728,27 +268462,29 @@ OMIM:608914 a owl:Class ; PMID:15276201, PMID:16364570, PMID:17101985 ; - oboInOwl:hasDbXref UMLS:C1837146 ; oboInOwl:hasExactSynonym "POTEE", "pote ankyrin domain family, member e", "pote2-gamma", "prostate-, ovary-, testis-, and placenta-expressed gene on chromosome 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:445582 ; - skos:exactMatch HGNC_symbol:POTEE ; + skos:exactMatch UMLS:C1837146, + HGNC:33895, + HGNC_symbol:POTEE ; biolink:category biolink:Gene . OMIM:608915 a owl:Class ; rdfs:label "POTEA" ; IAO:0000142 PMID:12475935, PMID:15276201 ; - oboInOwl:hasDbXref UMLS:C1837145 ; oboInOwl:hasExactSynonym "POTEA", "pote ankyrin domain family, member a", "prostate-, ovary-, testis-, and placenta-expressed gene on chromosome 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340441 ; - skos:exactMatch HGNC_symbol:POTEA ; + skos:exactMatch UMLS:C1837145, + HGNC:33893, + HGNC_symbol:POTEA ; biolink:category biolink:Gene . OMIM:608916 a owl:Class ; @@ -258756,25 +268492,27 @@ OMIM:608916 a owl:Class ; IAO:0000142 PMID:12475935, PMID:15276201, PMID:16364570 ; - oboInOwl:hasDbXref UMLS:C1837144 ; oboInOwl:hasExactSynonym "POTEG", "pote ankyrin domain family, member g", "prostate-, ovary-, testis-, and placenta-expressed gene on chromosome 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:404785 ; - skos:exactMatch HGNC_symbol:POTEG ; + skos:exactMatch UMLS:C1837144, + HGNC:33896, + HGNC_symbol:POTEG ; biolink:category biolink:Gene . OMIM:608917 a owl:Class ; rdfs:label "ATPAF1" ; IAO:0000142 PMID:11410595 ; - oboInOwl:hasDbXref UMLS:C1425787 ; oboInOwl:hasExactSynonym "ATPAF1", "atp synthase, mitochondrial f1 complex, assembly factor 1", "atp11, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64756 ; - skos:exactMatch HGNC_symbol:ATPAF1 ; + skos:exactMatch UMLS:C1425787, + HGNC:18803, + HGNC_symbol:ATPAF1 ; biolink:category biolink:Gene . OMIM:608918 a owl:Class ; @@ -258783,27 +268521,29 @@ OMIM:608918 a owl:Class ; PMID:14757859 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:604273 ; - oboInOwl:hasDbXref UMLS:C1425786 ; oboInOwl:hasExactSynonym "ATPAF2", "atp synthase, mitochondrial f1 complex, assembly factor 2", "atp12, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91647 ; - skos:exactMatch HGNC_symbol:ATPAF2 ; + skos:exactMatch UMLS:C1425786, + HGNC:18802, + HGNC_symbol:ATPAF2 ; biolink:category biolink:Gene . OMIM:608919 a owl:Class ; rdfs:label "TTYH3" ; IAO:0000142 PMID:11214970, PMID:15010458 ; - oboInOwl:hasDbXref UMLS:C1427764 ; oboInOwl:hasExactSynonym "TTYH3", "kiaa1691", "tweety family member 3", "tweety, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80727 ; - skos:exactMatch HGNC_symbol:TTYH3 ; + skos:exactMatch UMLS:C1427764, + HGNC:22222, + HGNC_symbol:TTYH3 ; biolink:category biolink:Gene . OMIM:608920 a owl:Class ; @@ -258811,14 +268551,15 @@ OMIM:608920 a owl:Class ; IAO:0000142 PMID:10022914, PMID:10819331, PMID:15627748 ; - oboInOwl:hasDbXref UMLS:C1427270 ; oboInOwl:hasExactSynonym "PITPNM2", "kiaa1457", "phosphatidylinositol transfer protein, membrane-associated, 2", "pyk2 n-terminal domain-interacting receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57605 ; - skos:exactMatch HGNC_symbol:PITPNM2 ; + skos:exactMatch UMLS:C1427270, + HGNC:21044, + HGNC_symbol:PITPNM2 ; biolink:category biolink:Gene . OMIM:608921 a owl:Class ; @@ -258829,14 +268570,15 @@ OMIM:608921 a owl:Class ; PMID:8586428 ; RO:0002525 CHR:9606chr17p13.2-p13.1 ; RO:0003303 OMIM:600977 ; - oboInOwl:hasDbXref UMLS:C1427269 ; oboInOwl:hasExactSynonym "PITPNM3", "atypical chemokine receptor 6", "phosphatidylinositol transfer protein, membrane-associated, 3", "pyk2 n-terminal domain-interacting receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83394 ; - skos:exactMatch HGNC_symbol:PITPNM3 ; + skos:exactMatch UMLS:C1427269, + HGNC:21043, + HGNC_symbol:PITPNM3 ; biolink:category biolink:Gene . OMIM:608922 a owl:Class ; @@ -258850,14 +268592,15 @@ OMIM:608922 a owl:Class ; PMID:25138100 ; RO:0002525 CHR:9606chr3q11.1-q11.2 ; RO:0003303 OMIM:612291 ; - oboInOwl:hasDbXref UMLS:C1824213, - UMLS:C2676771 ; oboInOwl:hasExactSynonym "ARL13B", "adp-ribosylation factor-like gtpase 13b", "arl2-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200894 ; - skos:exactMatch HGNC_symbol:ARL13B ; + skos:exactMatch UMLS:C1824213, + UMLS:C2676771, + HGNC:25419, + HGNC_symbol:ARL13B ; biolink:category biolink:Gene . OMIM:608923 a owl:Class ; @@ -258865,25 +268608,27 @@ OMIM:608923 a owl:Class ; IAO:0000142 PMID:11459929, PMID:15329799, PMID:15718104 ; - oboInOwl:hasDbXref UMLS:C1539913 ; oboInOwl:hasExactSynonym "TAAR6", "trace amine receptor 4", "trace amine-associated receptor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:319100 ; - skos:exactMatch HGNC_symbol:TAAR6 ; + skos:exactMatch UMLS:C1539913, + HGNC:20978, + HGNC_symbol:TAAR6 ; biolink:category biolink:Gene . OMIM:608924 a owl:Class ; rdfs:label "FOXP4" ; IAO:0000142 PMID:12818433, PMID:15361625 ; - oboInOwl:hasDbXref UMLS:C1427156 ; oboInOwl:hasExactSynonym "FOXP4", "forkhead box p4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116113 ; - skos:exactMatch HGNC_symbol:FOXP4 ; + skos:exactMatch UMLS:C1427156, + HGNC:20842, + HGNC_symbol:FOXP4 ; biolink:category biolink:Gene . OMIM:608925 a owl:Class ; @@ -258891,25 +268636,27 @@ OMIM:608925 a owl:Class ; IAO:0000142 PMID:11559704, PMID:12221002, PMID:25745997 ; - oboInOwl:hasDbXref UMLS:C1426507 ; oboInOwl:hasExactSynonym "MMRN2", "endoglyx1", "multimerin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79812 ; - skos:exactMatch HGNC_symbol:MMRN2 ; + skos:exactMatch UMLS:C1426507, + HGNC:19888, + HGNC_symbol:MMRN2 ; biolink:category biolink:Gene . OMIM:608926 a owl:Class ; rdfs:label "EMID1" ; IAO:0000142 PMID:12221002 ; - oboInOwl:hasDbXref UMLS:C1425256 ; oboInOwl:hasExactSynonym "EMID1", "emi domain-containing protein 1", "emu1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129080 ; - skos:exactMatch HGNC_symbol:EMID1 ; + skos:exactMatch UMLS:C1425256, + HGNC:18036, + HGNC_symbol:EMID1 ; biolink:category biolink:Gene . OMIM:608927 a owl:Class ; @@ -258917,38 +268664,41 @@ OMIM:608927 a owl:Class ; IAO:0000142 PMID:12145293, PMID:12221002, PMID:21948517 ; - oboInOwl:hasDbXref UMLS:C1425258 ; oboInOwl:hasExactSynonym "EMID2", "collagen, iia xxvi, alpha-1", "emi domain-containing protein 2", "emu2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136227 ; - skos:exactMatch HGNC_symbol:COL26A1 ; + skos:exactMatch UMLS:C1425258, + HGNC:18038, + HGNC_symbol:COL26A1 ; biolink:category biolink:Gene . OMIM:608928 a owl:Class ; rdfs:label "EMILIN2" ; IAO:0000142 PMID:11278945, PMID:12221002 ; - oboInOwl:hasDbXref UMLS:C1426503 ; oboInOwl:hasExactSynonym "EMILIN2", "elastin microfibril interfacer 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84034 ; - skos:exactMatch HGNC_symbol:EMILIN2 ; + skos:exactMatch UMLS:C1426503, + HGNC:19881, + HGNC_symbol:EMILIN2 ; biolink:category biolink:Gene . OMIM:608929 a owl:Class ; rdfs:label "EMILIN3" ; IAO:0000142 PMID:12221002, PMID:14706625 ; - oboInOwl:hasDbXref UMLS:C1424003 ; oboInOwl:hasExactSynonym "EMILIN3", "elastin microfibril interfacer 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90187 ; - skos:exactMatch HGNC_symbol:EMILIN3 ; + skos:exactMatch UMLS:C1424003, + HGNC:16123, + HGNC_symbol:EMILIN3 ; biolink:category biolink:Gene . OMIM:608933 a owl:Class ; @@ -258956,34 +268706,35 @@ OMIM:608933 a owl:Class ; IAO:0000142 PMID:12097317, PMID:12509226, PMID:14522990 ; - oboInOwl:hasDbXref UMLS:C1425924 ; oboInOwl:hasExactSynonym "NEIL2", "endonuclease viii-like 2", "nei2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:252969 ; - skos:exactMatch HGNC_symbol:NEIL2 ; + skos:exactMatch UMLS:C1425924, + HGNC:18956, + HGNC_symbol:NEIL2 ; biolink:category biolink:Gene . OMIM:608934 a owl:Class ; rdfs:label "NEIL3" ; IAO:0000142 PMID:12433996, PMID:12509226 ; - oboInOwl:hasDbXref UMLS:C1538054 ; oboInOwl:hasExactSynonym "NEIL3", "endonuclease viii-like 3", "fgp2", "nei3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55247 ; - skos:exactMatch HGNC_symbol:NEIL3 ; + skos:exactMatch UMLS:C1538054, + HGNC:24573, + HGNC_symbol:NEIL3 ; biolink:category biolink:Gene . OMIM:608936 a owl:Class ; rdfs:label "OPRPN" ; IAO:0000142 PMID:17101991, PMID:8670737 ; - oboInOwl:hasDbXref UMLS:C1424870 ; oboInOwl:hasExactSynonym "OPRPN", "basic proline-rich lacrimal protein", "opiorphin", @@ -258992,7 +268743,9 @@ OMIM:608936 a owl:Class ; "proline-rich lacrimal protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58503 ; - skos:exactMatch HGNC_symbol:OPRPN ; + skos:exactMatch UMLS:C1424870, + HGNC:17279, + HGNC_symbol:OPRPN ; biolink:category biolink:Gene . OMIM:608937 a owl:Class ; @@ -259005,14 +268758,15 @@ OMIM:608937 a owl:Class ; PMID:15314154, PMID:17235396, PMID:9343427 ; - oboInOwl:hasDbXref UMLS:C1822703 ; oboInOwl:hasExactSynonym "SH2B1", "kiaa1299", "sh2b adaptor protein 1", "sh2b, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25970 ; - skos:exactMatch HGNC_symbol:SH2B1 ; + skos:exactMatch UMLS:C1822703, + HGNC:30417, + HGNC_symbol:SH2B1 ; biolink:category biolink:Gene . OMIM:608938 a owl:Class ; @@ -259030,7 +268784,6 @@ OMIM:608938 a owl:Class ; PMID:9804755, PMID:9822608, PMID:9878560 ; - oboInOwl:hasDbXref UMLS:C1419748 ; oboInOwl:hasExactSynonym "RPS6KB1", "p70 s6 kinase, alpha", "p70(s6k)-alpha", @@ -259040,7 +268793,9 @@ OMIM:608938 a owl:Class ; "s6k1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6198 ; - skos:exactMatch HGNC_symbol:RPS6KB1 ; + skos:exactMatch UMLS:C1419748, + HGNC:10436, + HGNC_symbol:RPS6KB1 ; biolink:category biolink:Gene . OMIM:608939 a owl:Class ; @@ -259048,7 +268803,6 @@ OMIM:608939 a owl:Class ; IAO:0000142 PMID:15060135, PMID:9804755, PMID:9878560 ; - oboInOwl:hasDbXref UMLS:C1335645 ; oboInOwl:hasExactSynonym "RPS6KB2", "p70 s6 kinase, beta", "p70(s6k)-beta", @@ -259058,45 +268812,50 @@ OMIM:608939 a owl:Class ; "s6k2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6199 ; - skos:exactMatch HGNC_symbol:RPS6KB2 ; + skos:exactMatch UMLS:C1335645, + HGNC:10437, + HGNC_symbol:RPS6KB2 ; biolink:category biolink:Gene . OMIM:608941 a owl:Class ; rdfs:label "GNG3" ; IAO:0000142 PMID:10819326, PMID:15314181 ; - oboInOwl:hasDbXref UMLS:C1415156 ; oboInOwl:hasExactSynonym "GNG3", "guanine nucleotide-binding protein, gamma-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2785 ; - skos:exactMatch HGNC_symbol:GNG3 ; + skos:exactMatch UMLS:C1415156, + HGNC:4405, + HGNC_symbol:GNG3 ; biolink:category biolink:Gene . OMIM:608942 a owl:Class ; rdfs:label "DYNLL2" ; IAO:0000142 PMID:12097491, PMID:15937072 ; - oboInOwl:hasDbXref UMLS:C1825015 ; oboInOwl:hasExactSynonym "DYNLL2", "dynein light chain 2", "dynein, light chain, lc8 type, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140735 ; - skos:exactMatch HGNC_symbol:DYNLL2 ; + skos:exactMatch UMLS:C1825015, + HGNC:24596, + HGNC_symbol:DYNLL2 ; biolink:category biolink:Gene . OMIM:608943 a owl:Class ; rdfs:label "CIAPIN1" ; IAO:0000142 PMID:10493829, PMID:14970183 ; - oboInOwl:hasDbXref UMLS:C1538464 ; oboInOwl:hasExactSynonym "CIAPIN1", "anamorsin", "cytokine-induced apoptosis inhibitor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57019 ; - skos:exactMatch HGNC_symbol:CIAPIN1 ; + skos:exactMatch UMLS:C1538464, + HGNC:28050, + HGNC_symbol:CIAPIN1 ; biolink:category biolink:Gene . OMIM:608944 a owl:Class ; @@ -259112,13 +268871,14 @@ OMIM:608944 a owl:Class ; PMID:29618029 ; RO:0002525 CHR:9606chr9p22.3 ; RO:0003303 OMIM:614485 ; - oboInOwl:hasDbXref UMLS:C1539530 ; oboInOwl:hasExactSynonym "FREM1", "chromosome 9 open reading frame 154", "fras1-related extracellular matrix protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158326 ; - skos:exactMatch HGNC_symbol:FREM1 ; + skos:exactMatch UMLS:C1539530, + HGNC:23399, + HGNC_symbol:FREM1 ; biolink:category biolink:Gene . OMIM:608945 a owl:Class ; @@ -259134,23 +268894,25 @@ OMIM:608945 a owl:Class ; PMID:30802441 ; RO:0002525 CHR:9606chr13q13.3 ; RO:0003303 OMIM:617666 ; - oboInOwl:hasDbXref UMLS:C1539531 ; oboInOwl:hasExactSynonym "FREM2", "fras1-related extracellular matrix protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:341640 ; - skos:exactMatch HGNC_symbol:FREM2 ; + skos:exactMatch UMLS:C1539531, + HGNC:25396, + HGNC_symbol:FREM2 ; biolink:category biolink:Gene . OMIM:608946 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15345741 ; - oboInOwl:hasDbXref UMLS:C1539532 ; oboInOwl:hasExactSynonym "fras1-related extracellular matrix protein 3", "frem3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166752 ; - skos:exactMatch HGNC_symbol:FREM3 ; + skos:exactMatch UMLS:C1539532, + HGNC:25172, + HGNC_symbol:FREM3 ; biolink:category biolink:Gene . OMIM:608947 a owl:Class ; @@ -259160,7 +268922,6 @@ OMIM:608947 a owl:Class ; PMID:22596160, PMID:29088697, PMID:30590535 ; - oboInOwl:hasDbXref UMLS:C1427765 ; oboInOwl:hasExactSynonym "KCTD13", "fksg86", "polymerase delta-interacting protein 1", @@ -259168,7 +268929,9 @@ OMIM:608947 a owl:Class ; "tnfaip1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253980 ; - skos:exactMatch HGNC_symbol:KCTD13 ; + skos:exactMatch UMLS:C1427765, + HGNC:22234, + HGNC_symbol:KCTD13 ; biolink:category biolink:Gene . OMIM:608948 a owl:Class ; @@ -259176,13 +268939,14 @@ OMIM:608948 a owl:Class ; IAO:0000142 PMID:15338008, PMID:15465018, PMID:8682319 ; - oboInOwl:hasDbXref UMLS:C1426910 ; oboInOwl:hasExactSynonym "ZIC4", "zic family, member 4", "zinc finger protein of cerebellum 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84107 ; - skos:exactMatch HGNC_symbol:ZIC4 ; + skos:exactMatch UMLS:C1426910, + HGNC:20393, + HGNC_symbol:ZIC4 ; biolink:category biolink:Gene . OMIM:608949 a owl:Class ; @@ -259191,23 +268955,24 @@ OMIM:608949 a owl:Class ; PMID:10671554, PMID:15287756, PMID:15329726 ; - oboInOwl:hasDbXref UMLS:C1825375 ; oboInOwl:hasExactSynonym "GLTP", "glycolipid transfer protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51228 ; - skos:exactMatch HGNC_symbol:GLTP ; + skos:exactMatch UMLS:C1825375, + HGNC:24867, + HGNC_symbol:GLTP ; biolink:category biolink:Gene . OMIM:608950 a owl:Class ; rdfs:label "MAGI2IT" ; IAO:0000142 PMID:12110681 ; - oboInOwl:hasDbXref UMLS:C1837071 ; oboInOwl:hasExactSynonym "MAGI2IT", "magi2 intronic transcript", "platelet membrane protein, 47-kd", "platelet receptor for iia 3 collagen, 47-kd" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1837071 ; biolink:category biolink:Gene . OMIM:608951 a owl:Class ; @@ -259216,14 +268981,15 @@ OMIM:608951 a owl:Class ; PMID:11889047, PMID:15314026, PMID:18180299 ; - oboInOwl:hasDbXref UMLS:C1422405 ; oboInOwl:hasExactSynonym "CNOT6", "ccr4, s. cerevisiae, homolog of", "ccr4-not transcription complex, subunit 6", "kiaa1194" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57472 ; - skos:exactMatch HGNC_symbol:CNOT6 ; + skos:exactMatch UMLS:C1422405, + HGNC:14099, + HGNC_symbol:CNOT6 ; biolink:category biolink:Gene . OMIM:608952 a owl:Class ; @@ -259234,13 +269000,14 @@ OMIM:608952 a owl:Class ; PMID:23306439, PMID:25799990, PMID:28700933 ; - oboInOwl:hasDbXref UMLS:C1538841 ; oboInOwl:hasExactSynonym "RIF1", "rap1-interacting factor 1, yeast, homolog of", "replication timing regulatory factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55183 ; - skos:exactMatch HGNC_symbol:RIF1 ; + skos:exactMatch UMLS:C1538841, + HGNC:23207, + HGNC_symbol:RIF1 ; biolink:category biolink:Gene . OMIM:608953 a owl:Class ; @@ -259248,7 +269015,6 @@ OMIM:608953 a owl:Class ; IAO:0000142 PMID:11751288, PMID:12029069, PMID:15340058 ; - oboInOwl:hasDbXref UMLS:C1420687 ; oboInOwl:hasExactSynonym "TEKT2", "tektin 2", "tektin b1", @@ -259256,7 +269022,9 @@ OMIM:608953 a owl:Class ; "tektin-t" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27285 ; - skos:exactMatch HGNC_symbol:TEKT2 ; + skos:exactMatch UMLS:C1420687, + HGNC:11725, + HGNC_symbol:TEKT2 ; biolink:category biolink:Gene . OMIM:608954 a owl:Class ; @@ -259264,7 +269032,6 @@ OMIM:608954 a owl:Class ; IAO:0000142 PMID:10048485, PMID:12828340, PMID:20305638 ; - oboInOwl:hasDbXref UMLS:C1537934 ; oboInOwl:hasExactSynonym "MON1B", "hsv-1 stimulation-related gene 1", "kiaa0872", @@ -259272,7 +269039,9 @@ OMIM:608954 a owl:Class ; "mon1, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22879 ; - skos:exactMatch HGNC_symbol:MON1B ; + skos:exactMatch UMLS:C1537934, + HGNC:25020, + HGNC_symbol:MON1B ; biolink:category biolink:Gene . OMIM:608955 a owl:Class ; @@ -259281,27 +269050,29 @@ OMIM:608955 a owl:Class ; PMID:15890843, PMID:20498047, PMID:21074048 ; - oboInOwl:hasDbXref UMLS:C1412990 ; oboInOwl:hasExactSynonym "TTLL1", "kiaa0173", "tubulin tyrosine ligase-like 1", "tubulin tyrosine ligase-like family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25809 ; - skos:exactMatch HGNC_symbol:TTLL1 ; + skos:exactMatch UMLS:C1412990, + HGNC:1312, + HGNC_symbol:TTLL1 ; biolink:category biolink:Gene . OMIM:608956 a owl:Class ; rdfs:label "SLC46A2" ; IAO:0000142 PMID:10706709, PMID:10978518 ; - oboInOwl:hasDbXref UMLS:C1423942 ; oboInOwl:hasExactSynonym "SLC46A2", "solute carrier family 46, member 2", "thymic stromal cotransporter" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57864 ; - skos:exactMatch HGNC_symbol:SLC46A2 ; + skos:exactMatch UMLS:C1423942, + HGNC:16055, + HGNC_symbol:SLC46A2 ; biolink:category biolink:Gene . OMIM:608958 a owl:Class ; @@ -259365,20 +269136,20 @@ OMIM:608958 a owl:Class ; PMID:980079 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:102700 ; - oboInOwl:hasDbXref UMLS:C1412179 ; oboInOwl:hasExactSynonym "ADA", "adenosine aminohydrolase", "adenosine deaminase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100 ; - skos:exactMatch HGNC_symbol:ADA ; + skos:exactMatch UMLS:C1412179, + HGNC:186, + HGNC_symbol:ADA ; biolink:category biolink:Gene . OMIM:608959 a owl:Class ; rdfs:label "DPH3" ; IAO:0000142 PMID:14527407, PMID:14980502 ; - oboInOwl:hasDbXref UMLS:C1538164 ; oboInOwl:hasExactSynonym "DPH3", "deafness locus putative guanine nucleotide exchange factor-interacting protein 1", "delgef-interacting protein 1", @@ -259389,20 +269160,23 @@ OMIM:608959 a owl:Class ; "zinc finger, csl domain-containing 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285381 ; - skos:exactMatch HGNC_symbol:DPH3 ; + skos:exactMatch UMLS:C1538164, + HGNC:27717, + HGNC_symbol:DPH3 ; biolink:category biolink:Gene . OMIM:608960 a owl:Class ; rdfs:label "ARL5A" ; IAO:0000142 PMID:12414990, PMID:12450215 ; - oboInOwl:hasDbXref UMLS:C1824205 ; oboInOwl:hasExactSynonym "ARL5A", "adp-ribosylation factor-like 5", "adp-ribosylation factor-like gtpase 5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26225 ; - skos:exactMatch HGNC_symbol:ARL5A ; + skos:exactMatch UMLS:C1824205, + HGNC:696, + HGNC_symbol:ARL5A ; biolink:category biolink:Gene . OMIM:608961 a owl:Class ; @@ -259414,8 +269188,6 @@ OMIM:608961 a owl:Class ; PMID:21932052, PMID:29539642, PMID:31278393 ; - oboInOwl:hasDbXref UMLS:C1425222, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "TRPM3", "kiaa1616", "long transient receptor potential channel 3", @@ -259423,33 +269195,38 @@ OMIM:608961 a owl:Class ; "transient receptor potential cation channel, subfamily m, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80036 ; - skos:exactMatch HGNC_symbol:TRPM3 ; + skos:exactMatch UMLS:C1425222, + UMLS:C2986382, + HGNC:17992, + HGNC_symbol:TRPM3 ; biolink:category biolink:Gene . OMIM:608962 a owl:Class ; rdfs:label "RHBDL2" ; IAO:0000142 PMID:11672525, PMID:15047175 ; - oboInOwl:hasDbXref UMLS:C1423964 ; oboInOwl:hasExactSynonym "RHBDL2", "rhomboid-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54933 ; - skos:exactMatch HGNC_symbol:RHBDL2 ; + skos:exactMatch UMLS:C1423964, + HGNC:16083, + HGNC_symbol:RHBDL2 ; biolink:category biolink:Gene . OMIM:608963 a owl:Class ; rdfs:label "NUTM1" ; IAO:0000142 PMID:12543779 ; - oboInOwl:hasDbXref UMLS:C1837033, - UMLS:C3274991 ; oboInOwl:hasExactSynonym "NUTM1", "nuclear protein 1n testis", "nut midline carcinoma family member 1", "nut/brd4 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256646 ; - skos:exactMatch HGNC_symbol:NUTM1 ; + skos:exactMatch UMLS:C1837033, + UMLS:C3274991, + HGNC:29919, + HGNC_symbol:NUTM1 ; biolink:category biolink:Gene . OMIM:608964 a owl:Class ; @@ -259457,13 +269234,14 @@ OMIM:608964 a owl:Class ; IAO:0000142 PMID:14634207, PMID:18046332, PMID:19759265 ; - oboInOwl:hasDbXref UMLS:C1426468 ; oboInOwl:hasExactSynonym "TBPL2", "tata box-binding protein-like protein 2", "tpb-related factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387332 ; - skos:exactMatch HGNC_symbol:TBPL2 ; + skos:exactMatch UMLS:C1426468, + HGNC:19841, + HGNC_symbol:TBPL2 ; biolink:category biolink:Gene . OMIM:608965 a owl:Class ; @@ -259477,26 +269255,28 @@ OMIM:608965 a owl:Class ; PMID:23099293 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:610427 ; - oboInOwl:hasDbXref UMLS:C1413055 ; oboInOwl:hasExactSynonym "CABP4", "calcium-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57010 ; - skos:exactMatch HGNC_symbol:CABP4 ; + skos:exactMatch UMLS:C1413055, + HGNC:1386, + HGNC_symbol:CABP4 ; biolink:category biolink:Gene . OMIM:608966 a owl:Class ; rdfs:label "DACT2" ; IAO:0000142 PMID:12632086, PMID:15459392 ; - oboInOwl:hasDbXref UMLS:C1427435 ; oboInOwl:hasExactSynonym "DACT2", "dapper, antagonist of beta-catenin, 2", "dapper, xenopus, homolog of, 2", "dapper2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:168002 ; - skos:exactMatch HGNC_symbol:DACT2 ; + skos:exactMatch UMLS:C1427435, + HGNC:21231, + HGNC_symbol:DACT2 ; biolink:category biolink:Gene . OMIM:608967 a owl:Class ; @@ -259514,24 +269294,24 @@ OMIM:608968 a owl:Class ; PMID:27181683 ; RO:0002525 CHR:9606chr20q12 ; RO:0003303 OMIM:166300 ; - oboInOwl:hasDbXref UMLS:C1416710, - UMLS:C2674705, - UMLS:C4310873, - UMLS:C4310874 ; oboInOwl:hasExactSynonym "MAFB", "krml, mouse, homolog of", "maf bzip transcription factor B", "v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9935 ; - skos:exactMatch HGNC_symbol:MAFB ; + skos:exactMatch UMLS:C1416710, + UMLS:C2674705, + UMLS:C4310873, + UMLS:C4310874, + HGNC:6408, + HGNC_symbol:MAFB ; biolink:category biolink:Gene . OMIM:608969 a owl:Class ; rdfs:label "UTP14C" ; IAO:0000142 PMID:15289605, PMID:16354793 ; - oboInOwl:hasDbXref UMLS:C1540169 ; oboInOwl:hasExactSynonym "UTP14C", "kiaa0266", "utp14, s. cerevisiae, homolog of, B", @@ -259539,7 +269319,9 @@ OMIM:608969 a owl:Class ; "utp14c small subunit processome component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9724 ; - skos:exactMatch HGNC_symbol:UTP14C ; + skos:exactMatch UMLS:C1540169, + HGNC:20321, + HGNC_symbol:UTP14C ; biolink:category biolink:Gene . OMIM:608972 a owl:Class ; @@ -259556,14 +269338,15 @@ OMIM:608972 a owl:Class ; PMID:19543265, PMID:22495310, PMID:26147081 ; - oboInOwl:hasDbXref UMLS:C1824799 ; oboInOwl:hasExactSynonym "CRTC2", "creb-regulated transcription coactivator 2", "transducer of regulated camp response element-binding protein 2", "transducer of regulated creb 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200186 ; - skos:exactMatch HGNC_symbol:CRTC2 ; + skos:exactMatch UMLS:C1824799, + HGNC:27301, + HGNC_symbol:CRTC2 ; biolink:category biolink:Gene . OMIM:608973 a owl:Class ; @@ -259573,7 +269356,6 @@ OMIM:608973 a owl:Class ; PMID:15454081, PMID:17805301, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1539799 ; oboInOwl:hasExactSynonym "SIK2", "kiaa0781", "salt-inducible kinase 2", @@ -259581,47 +269363,52 @@ OMIM:608973 a owl:Class ; "snf1-like kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23235 ; - skos:exactMatch HGNC_symbol:SIK2 ; + skos:exactMatch UMLS:C1539799, + HGNC:21680, + HGNC_symbol:SIK2 ; biolink:category biolink:Gene . OMIM:608974 a owl:Class ; rdfs:label "C1RL" ; IAO:0000142 PMID:15358180, PMID:15385675 ; - oboInOwl:hasDbXref UMLS:C1427465 ; oboInOwl:hasExactSynonym "C1RL", "c1r-like protein", "c1r-like serine protease analog", "complement component c1r-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51279 ; - skos:exactMatch HGNC_symbol:C1RL ; + skos:exactMatch UMLS:C1427465, + HGNC:21265, + HGNC_symbol:C1RL ; biolink:category biolink:Gene . OMIM:608975 a owl:Class ; rdfs:label "PARD6B" ; IAO:0000142 PMID:11260256 ; - oboInOwl:hasDbXref UMLS:C1424118 ; oboInOwl:hasExactSynonym "PARD6B", "par6 family cell polarity regulator beta", "par6-beta", "partitioning-defective protein 6, c. elegans, homolog of, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84612 ; - skos:exactMatch HGNC_symbol:PARD6B ; + skos:exactMatch UMLS:C1424118, + HGNC:16245, + HGNC_symbol:PARD6B ; biolink:category biolink:Gene . OMIM:608976 a owl:Class ; rdfs:label "PARD6G" ; IAO:0000142 PMID:11260256 ; - oboInOwl:hasDbXref UMLS:C1423959 ; oboInOwl:hasExactSynonym "PARD6G", "par6 family cell polarity regulator gamma", "par6-gamma", "partitioning-defective protein 6, c. elegans, homolog of, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84552 ; - skos:exactMatch HGNC_symbol:PARD6G ; + skos:exactMatch UMLS:C1423959, + HGNC:16076, + HGNC_symbol:PARD6G ; biolink:category biolink:Gene . OMIM:608977 a owl:Class ; @@ -259633,13 +269420,14 @@ OMIM:608977 a owl:Class ; PMID:22981120 ; RO:0002525 CHR:9606chr3q26.33 ; RO:0003303 OMIM:610198 ; - oboInOwl:hasDbXref UMLS:C1824950 ; oboInOwl:hasExactSynonym "DNAJC19", "dnaj/hsp40 homolog, subfamily c, member 19", "translocase of inner mitochondrial membrane 14, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131118 ; - skos:exactMatch HGNC_symbol:DNAJC19 ; + skos:exactMatch UMLS:C1824950, + HGNC:30528, + HGNC_symbol:DNAJC19 ; biolink:category biolink:Gene . OMIM:608978 a owl:Class ; @@ -259647,14 +269435,13 @@ OMIM:608978 a owl:Class ; IAO:0000142 PMID:11822701, PMID:17853480, PMID:1844355 ; - oboInOwl:hasDbXref UMLS:C1837026 ; oboInOwl:hasExactSynonym "meacham syndrome" ; + skos:exactMatch UMLS:C1837026 ; biolink:category biolink:Disease . OMIM:608979 a owl:Class ; rdfs:label "PPM1M" ; IAO:0000142 PMID:14654243 ; - oboInOwl:hasDbXref UMLS:C1538711 ; oboInOwl:hasExactSynonym "PPM1M", "pp2c-eta", "protein phosphatase 2c, eta isoform", @@ -259662,7 +269449,9 @@ OMIM:608979 a owl:Class ; "protein phosphatase, magnesium/manganese-dependent, 1m" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132160 ; - skos:exactMatch HGNC_symbol:PPM1M ; + skos:exactMatch UMLS:C1538711, + HGNC:26506, + HGNC_symbol:PPM1M ; biolink:category biolink:Gene . OMIM:608980 a owl:Class ; @@ -259670,9 +269459,9 @@ OMIM:608980 a owl:Class ; IAO:0000142 PMID:11822703, PMID:19732862, PMID:21507892 ; - oboInOwl:hasDbXref UMLS:C2750433 ; oboInOwl:hasExactSynonym "BNAR", "bifid nose with or without anorectal and renal anomalies" ; + skos:exactMatch UMLS:C2750433 ; biolink:category biolink:Disease . OMIM:608981 a owl:Class ; @@ -259681,13 +269470,14 @@ OMIM:608981 a owl:Class ; PMID:15485907, PMID:18480258, PMID:18480259 ; - oboInOwl:hasDbXref UMLS:C1425329 ; oboInOwl:hasExactSynonym "ACVR1C", "activin a receptor, iia 1c", "activin receptor-like kinase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130399 ; - skos:exactMatch HGNC_symbol:ACVR1C ; + skos:exactMatch UMLS:C1425329, + HGNC:18123, + HGNC_symbol:ACVR1C ; biolink:category biolink:Gene . OMIM:608983 a owl:Class ; @@ -259700,10 +269490,10 @@ OMIM:608984 a owl:Class ; PMID:17190954, PMID:18347805, PMID:21115467 ; - oboInOwl:hasDbXref UMLS:C1837015 ; oboInOwl:hasExactSynonym "SNAX1", "adsa", "ataxia, sensory, 1, autosomal dominant" ; + skos:exactMatch UMLS:C1837015 ; biolink:category biolink:Disease . OMIM:608985 a owl:Class ; @@ -259720,7 +269510,6 @@ OMIM:608985 a owl:Class ; PMID:25355358 ; RO:0002525 CHR:9606chr1q25.3 ; RO:0003303 OMIM:619460 ; - oboInOwl:hasDbXref UMLS:C1419419 ; oboInOwl:hasExactSynonym "RNF2", "bap1", "ding", @@ -259731,7 +269520,9 @@ OMIM:608985 a owl:Class ; "ring2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6045 ; - skos:exactMatch HGNC_symbol:RNF2 ; + skos:exactMatch UMLS:C1419419, + HGNC:10061, + HGNC_symbol:RNF2 ; biolink:category biolink:Gene . OMIM:608986 a owl:Class ; @@ -259739,39 +269530,42 @@ OMIM:608986 a owl:Class ; IAO:0000142 PMID:14506290, PMID:16980408, PMID:21164481 ; - oboInOwl:hasDbXref UMLS:C1824800 ; oboInOwl:hasExactSynonym "CRTC3", "creb-regulated transcription coactivator 3", "transducer of regulated camp response element-binding protein 3", "transducer of regulated creb 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64784 ; - skos:exactMatch HGNC_symbol:CRTC3 ; + skos:exactMatch UMLS:C1824800, + HGNC:26148, + HGNC_symbol:CRTC3 ; biolink:category biolink:Gene . OMIM:608987 a owl:Class ; rdfs:label "P4HA3" ; IAO:0000142 PMID:12874193, PMID:14500733 ; - oboInOwl:hasDbXref UMLS:C1538561 ; oboInOwl:hasExactSynonym "P4HA3", "procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 3", "prolyl 4-hydroxylase, alpha-3 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283208 ; - skos:exactMatch HGNC_symbol:P4HA3 ; + skos:exactMatch UMLS:C1538561, + HGNC:30135, + HGNC_symbol:P4HA3 ; biolink:category biolink:Gene . OMIM:608989 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12372410 ; - oboInOwl:hasDbXref UMLS:C1837013 ; oboInOwl:hasExactSynonym "epidermal retinal dehydrogenase 2", "rdhe2", "retinal dehydrogenase, epidermal, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:195814 ; - skos:exactMatch HGNC_symbol:SDR16C5 ; + skos:exactMatch UMLS:C1837013, + HGNC:30311, + HGNC_symbol:SDR16C5 ; biolink:category biolink:Gene . OMIM:608990 a owl:Class ; @@ -259781,12 +269575,13 @@ OMIM:608990 a owl:Class ; PMID:19836009 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:277600 ; - oboInOwl:hasDbXref UMLS:C1421875 ; oboInOwl:hasExactSynonym "ADAMTS10", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81794 ; - skos:exactMatch HGNC_symbol:ADAMTS10 ; + skos:exactMatch UMLS:C1421875, + HGNC:13201, + HGNC_symbol:ADAMTS10 ; biolink:category biolink:Gene . OMIM:608991 a owl:Class ; @@ -259794,40 +269589,43 @@ OMIM:608991 a owl:Class ; IAO:0000142 PMID:11347906, PMID:12370315, PMID:12386158 ; - oboInOwl:hasDbXref UMLS:C1424142 ; oboInOwl:hasExactSynonym "MAML3", "kiaa1816", "mastermind, drosophila, homolog of, 2", "mastermind-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55534 ; - skos:exactMatch HGNC_symbol:MAML3 ; + skos:exactMatch UMLS:C1424142, + HGNC:16272, + HGNC_symbol:MAML3 ; biolink:category biolink:Gene . OMIM:608992 a owl:Class ; rdfs:label "BCL6B" ; IAO:0000142 PMID:10965127, PMID:9632807 ; - oboInOwl:hasDbXref UMLS:C1412766 ; oboInOwl:hasExactSynonym "BCL6B", "b-cell lymphoma 6b", "bcl6-associated zinc finger protein", "bcl6b transcription repressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255877 ; - skos:exactMatch HGNC_symbol:BCL6B ; + skos:exactMatch UMLS:C1412766, + HGNC:1002, + HGNC_symbol:BCL6B ; biolink:category biolink:Gene . OMIM:608993 a owl:Class ; rdfs:label "APOBEC3F" ; IAO:0000142 PMID:11863358, PMID:15152192 ; - oboInOwl:hasDbXref UMLS:C1424929 ; oboInOwl:hasExactSynonym "APOBEC3F", "apolipoprotein B mrna-editing enzyme, catalytic polypeptide-like 3f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200316 ; - skos:exactMatch HGNC_symbol:APOBEC3F ; + skos:exactMatch UMLS:C1424929, + HGNC:17356, + HGNC_symbol:APOBEC3F ; biolink:category biolink:Gene . OMIM:608994 a owl:Class ; @@ -259835,14 +269633,15 @@ OMIM:608994 a owl:Class ; IAO:0000142 PMID:12439753, PMID:15500253, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1823693 ; oboInOwl:hasExactSynonym "ANKS1A", "ankyrin repeat and sterile alpha motif domains-containing protein 1a", "kiaa0229", "odin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23294 ; - skos:exactMatch HGNC_symbol:ANKS1A ; + skos:exactMatch UMLS:C1823693, + HGNC:20961, + HGNC_symbol:ANKS1A ; biolink:category biolink:Gene . OMIM:608997 a owl:Class ; @@ -259853,61 +269652,66 @@ OMIM:608998 a owl:Class ; rdfs:label "EIPR1" ; IAO:0000142 PMID:9403053, PMID:9925925 ; - oboInOwl:hasDbXref UMLS:C1336683 ; oboInOwl:hasExactSynonym "EIPR1", "earp complex and garp complex interacting protein 1", "tumor-suppressing stf cdna 1", "tumor-suppressing subtransferable fragment candidate gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7260 ; - skos:exactMatch HGNC_symbol:EIPR1 ; + skos:exactMatch UMLS:C1336683, + HGNC:12383, + HGNC_symbol:EIPR1 ; biolink:category biolink:Gene . OMIM:608999 a owl:Class ; rdfs:label "TSSC2" ; IAO:0000142 PMID:9403053 ; - oboInOwl:hasDbXref UMLS:C1421209 ; oboInOwl:hasExactSynonym "TSSC2", "tumor-suppressing stf cdna 2", "tumor-suppressing subtransferable fragment candidate gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:650368 ; - skos:exactMatch HGNC_symbol:TSSC2 ; + skos:exactMatch UMLS:C1421209, + HGNC:12384, + HGNC_symbol:TSSC2 ; biolink:category biolink:Gene . OMIM:609000 a owl:Class ; rdfs:label "MOXD1" ; IAO:0000142 PMID:9751809 ; - oboInOwl:hasDbXref UMLS:C1427285 ; oboInOwl:hasExactSynonym "MOXD1", "monooxygenase 10", "monooxygenase, dbh-like, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26002 ; - skos:exactMatch HGNC_symbol:MOXD1 ; + skos:exactMatch UMLS:C1427285, + HGNC:21063, + HGNC_symbol:MOXD1 ; biolink:category biolink:Gene . OMIM:609001 a owl:Class ; rdfs:label "PIK3C2G" ; IAO:0000142 PMID:9514948, PMID:9878262 ; - oboInOwl:hasDbXref UMLS:C1418573 ; oboInOwl:hasExactSynonym "PIK3C2G", "phosphatidylinositol 3-kinase, class 2, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5288 ; - skos:exactMatch HGNC_symbol:PIK3C2G ; + skos:exactMatch UMLS:C1418573, + HGNC:8973, + HGNC_symbol:PIK3C2G ; biolink:category biolink:Gene . OMIM:609002 a owl:Class ; rdfs:label "TEKT1" ; IAO:0000142 PMID:11606253 ; - oboInOwl:hasDbXref UMLS:C1423561 ; oboInOwl:hasExactSynonym "TEKT1", "tektin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83659 ; - skos:exactMatch HGNC_symbol:TEKT1 ; + skos:exactMatch UMLS:C1423561, + HGNC:15534, + HGNC_symbol:TEKT1 ; biolink:category biolink:Gene . OMIM:609003 a owl:Class ; @@ -259917,38 +269721,41 @@ OMIM:609003 a owl:Class ; PMID:14705031, PMID:15024001, PMID:19561330 ; - oboInOwl:hasDbXref UMLS:C1825300 ; oboInOwl:hasExactSynonym "FIS1", "fis1, s. cerevisiae, homolog of", "fission, mitochondrial 1", "tetratricopeptide repeat domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51024 ; - skos:exactMatch HGNC_symbol:FIS1 ; + skos:exactMatch UMLS:C1825300, + HGNC:21689, + HGNC_symbol:FIS1 ; biolink:category biolink:Gene . OMIM:609004 a owl:Class ; rdfs:label "BCL9L" ; IAO:0000142 PMID:12964048, PMID:15371335 ; - oboInOwl:hasDbXref UMLS:C1428193 ; oboInOwl:hasExactSynonym "BCL9L", "b-cell cll/lymphoma 9-like", "bcl9-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283149 ; - skos:exactMatch HGNC_symbol:BCL9L ; + skos:exactMatch UMLS:C1428193, + HGNC:23688, + HGNC_symbol:BCL9L ; biolink:category biolink:Gene . OMIM:609005 a owl:Class ; rdfs:label "WDR17" ; IAO:0000142 PMID:12401215 ; - oboInOwl:hasDbXref UMLS:C1424475 ; oboInOwl:hasExactSynonym "WDR17", "wd repeat-containing protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116966 ; - skos:exactMatch HGNC_symbol:WDR17 ; + skos:exactMatch UMLS:C1424475, + HGNC:16661, + HGNC_symbol:WDR17 ; biolink:category biolink:Gene . OMIM:609007 a owl:Class ; @@ -260039,23 +269846,24 @@ OMIM:609007 a owl:Class ; PMID:9276200 ; RO:0002525 CHR:9606chr12q12 ; RO:0003303 OMIM:607060 ; - oboInOwl:hasDbXref UMLS:C1425650, - UMLS:C1846862, - UMLS:C4017179 ; oboInOwl:hasExactSynonym "LRRK2", "dardarin", "leucine-rich repeat kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120892 ; - skos:exactMatch HGNC_symbol:LRRK2 ; + skos:exactMatch UMLS:C1425650, + UMLS:C1846862, + UMLS:C4017179, + HGNC:18618, + HGNC_symbol:LRRK2 ; biolink:category biolink:Gene . OMIM:609008 a owl:Class ; rdfs:label "marfanoid habitus with situs inversus" ; IAO:0000142 PMID:11380111, PMID:15150786 ; - oboInOwl:hasDbXref UMLS:C1836994 ; - oboInOwl:hasExactSynonym "marfanoid habitus with situs inversus" . + oboInOwl:hasExactSynonym "marfanoid habitus with situs inversus" ; + skos:exactMatch UMLS:C1836994 . OMIM:609009 a owl:Class ; rdfs:label "YWHAQ" ; @@ -260064,7 +269872,6 @@ OMIM:609009 a owl:Class ; PMID:7603573, PMID:7984035, PMID:8515476 ; - oboInOwl:hasDbXref UMLS:C1421563 ; oboInOwl:hasExactSynonym "14-3-3 protein, t-cell", "14-3-3-tau", "14-3-3-theta", @@ -260073,7 +269880,9 @@ OMIM:609009 a owl:Class ; "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10971 ; - skos:exactMatch HGNC_symbol:YWHAQ ; + skos:exactMatch UMLS:C1421563, + HGNC:12854, + HGNC_symbol:YWHAQ ; biolink:category biolink:Gene . OMIM:609010 a owl:Class ; @@ -260090,14 +269899,15 @@ OMIM:609010 a owl:Class ; PMID:9187484 ; RO:0002525 CHR:9606chr3q27.1 ; RO:0003303 OMIM:210200 ; - oboInOwl:hasDbXref UMLS:C1417066 ; oboInOwl:hasExactSynonym "3-methylcrotonyl-coa carboxylase 1", "3-methylcrotonyl-coa carboxylase, alpha", "3-methylcrotonyl-coa carboxylase, biotin-containing subunit", "MCCC1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56922 ; - skos:exactMatch HGNC_symbol:MCCC1 ; + skos:exactMatch UMLS:C1417066, + HGNC:6936, + HGNC_symbol:MCCC1 ; biolink:category biolink:Gene . OMIM:609011 a owl:Class ; @@ -260107,13 +269917,14 @@ OMIM:609011 a owl:Class ; PMID:20736312, PMID:29146868, PMID:29146869 ; - oboInOwl:hasDbXref UMLS:C1823615 ; oboInOwl:hasExactSynonym "VASH1", "kiaa1036", "vasohibin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22846 ; - skos:exactMatch HGNC_symbol:VASH1 ; + skos:exactMatch UMLS:C1823615, + HGNC:19964, + HGNC_symbol:VASH1 ; biolink:category biolink:Gene . OMIM:609012 a owl:Class ; @@ -260127,25 +269938,27 @@ OMIM:609012 a owl:Class ; PMID:30944473, PMID:30944477, PMID:30962551 ; - oboInOwl:hasDbXref UMLS:C1421496 ; oboInOwl:hasExactSynonym "WDR5", "bmp2-induced gene, 3-kb", "wd repeat-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11091 ; - skos:exactMatch HGNC_symbol:WDR5 ; + skos:exactMatch UMLS:C1421496, + HGNC:12757, + HGNC_symbol:WDR5 ; biolink:category biolink:Gene . OMIM:609013 a owl:Class ; rdfs:label "SLCO4C1" ; IAO:0000142 PMID:14993604 ; - oboInOwl:hasDbXref UMLS:C1428158 ; oboInOwl:hasExactSynonym "SLCO4C1", "organic anion transporter 4c1", "solute carrier organic anion transporter family, member 4c1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353189 ; - skos:exactMatch HGNC_symbol:SLCO4C1 ; + skos:exactMatch UMLS:C1428158, + HGNC:23612, + HGNC_symbol:SLCO4C1 ; biolink:category biolink:Gene . OMIM:609014 a owl:Class ; @@ -260163,14 +269976,15 @@ OMIM:609014 a owl:Class ; PMID:9544913 ; RO:0002525 CHR:9606chr5q13.2 ; RO:0003303 OMIM:210210 ; - oboInOwl:hasDbXref UMLS:C1417067 ; oboInOwl:hasExactSynonym "3-methylcrotonyl-coa carboxylase 2", "3-methylcrotonyl-coa carboxylase, beta", "3-methylcrotonyl-coa carboxylase, non-biotin-containing subunit", "MCCC2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64087 ; - skos:exactMatch HGNC_symbol:MCCC2 ; + skos:exactMatch UMLS:C1417067, + HGNC:6937, + HGNC_symbol:MCCC2 ; biolink:category biolink:Gene . OMIM:609016 a owl:Class ; @@ -260202,9 +270016,9 @@ OMIM:609016 a owl:Class ; PMID:9003853, PMID:9215057, PMID:9427163 ; - oboInOwl:hasDbXref UMLS:C3711645 ; oboInOwl:hasExactSynonym "lchad deficiency", "long-chain 3-hydroxyacyl-coa dehydrogenase deficiency" ; + skos:exactMatch UMLS:C3711645 ; biolink:category biolink:Disease . OMIM:609017 a owl:Class ; @@ -260218,14 +270032,15 @@ OMIM:609017 a owl:Class ; PMID:2339520 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:111750 ; - oboInOwl:hasDbXref UMLS:C1423697 ; oboInOwl:hasExactSynonym "ERMAP", "erythroblast membrane-associated protein", "erythrocyte membrane-associated protein", "erythroid membrane-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114625 ; - skos:exactMatch HGNC_symbol:ERMAP ; + skos:exactMatch UMLS:C1423697, + HGNC:15743, + HGNC_symbol:ERMAP ; biolink:category biolink:Gene . OMIM:609018 a owl:Class ; @@ -260245,13 +270060,14 @@ OMIM:609018 a owl:Class ; PMID:9396568 ; RO:0002525 CHR:9606chr21q22.13 ; RO:0003303 OMIM:253270 ; - oboInOwl:hasDbXref UMLS:C1415593 ; oboInOwl:hasExactSynonym "HLCS", "hcs", "holocarboxylase synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3141 ; - skos:exactMatch HGNC_symbol:HLCS ; + skos:exactMatch UMLS:C1415593, + HGNC:4976, + HGNC_symbol:HLCS ; biolink:category biolink:Gene . OMIM:609019 a owl:Class ; @@ -260275,13 +270091,14 @@ OMIM:609019 a owl:Class ; PMID:9705240 ; RO:0002525 CHR:9606chr3p25.1 ; RO:0003303 OMIM:253260 ; - oboInOwl:hasDbXref UMLS:C0220754, - UMLS:C1412833 ; oboInOwl:hasExactSynonym "BTD", "biotinidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:686 ; - skos:exactMatch HGNC_symbol:BTD ; + skos:exactMatch UMLS:C0220754, + UMLS:C1412833, + HGNC:1122, + HGNC_symbol:BTD ; biolink:category biolink:Gene . OMIM:609020 a owl:Class ; @@ -260290,7 +270107,6 @@ OMIM:609020 a owl:Class ; PMID:21908619, PMID:8595888, PMID:9838072 ; - oboInOwl:hasDbXref UMLS:C1836956 ; oboInOwl:hasExactSynonym "FOLH1B", "folate hydrolase 1b", "glutamate carboxypeptidase 3", @@ -260298,14 +270114,16 @@ OMIM:609020 a owl:Class ; "psma-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219595 ; - skos:exactMatch HGNC_symbol:FOLH1B ; + skos:exactMatch UMLS:C1836956, + HGNC:13636, + HGNC_symbol:FOLH1B ; biolink:category biolink:Gene . OMIM:609021 a owl:Class ; rdfs:label "peripheral cone dystrophy" ; IAO:0000142 PMID:15051206 ; - oboInOwl:hasDbXref UMLS:C1836946 ; oboInOwl:hasExactSynonym "peripheral cone dystrophy" ; + skos:exactMatch UMLS:C1836946 ; biolink:category biolink:Disease . OMIM:609022 a owl:Class ; @@ -260318,14 +270136,15 @@ OMIM:609022 a owl:Class ; PMID:17043309, PMID:20620941, PMID:24662050 ; - oboInOwl:hasDbXref UMLS:C1836945 ; oboInOwl:hasExactSynonym "RICTOR", "avo3, s. cerevisiae, homolog of", "kiaa1999", "rapamycin-insensitive companion of mtor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253260 ; - skos:exactMatch HGNC_symbol:RICTOR ; + skos:exactMatch UMLS:C1836945, + HGNC:28611, + HGNC_symbol:RICTOR ; biolink:category biolink:Gene . OMIM:609023 a owl:Class ; @@ -260341,8 +270160,6 @@ OMIM:609023 a owl:Class ; PMID:9490305 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:118800 ; - oboInOwl:hasDbXref UMLS:C1418706, - UMLS:C4551506 ; oboInOwl:hasExactSynonym "PNKD", "brain protein 17, mouse, homolog of", "kiaa1184", @@ -260351,7 +270168,10 @@ OMIM:609023 a owl:Class ; "transactivated by hepatitis c virus core protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25953 ; - skos:exactMatch HGNC_symbol:PNKD ; + skos:exactMatch UMLS:C1418706, + UMLS:C4551506, + HGNC:9153, + HGNC_symbol:PNKD ; biolink:category biolink:Gene . OMIM:609024 a owl:Class ; @@ -260362,15 +270182,16 @@ OMIM:609024 a owl:Class ; PMID:33964184 ; RO:0002525 CHR:9606chr7p22.1 ; RO:0003303 OMIM:619131 ; - oboInOwl:hasDbXref UMLS:C1416623, - UMLS:C5436875 ; oboInOwl:hasExactSynonym "KDELR2", "erd2-like protein 1", "erd2.2", "kdel endoplasmic reticulum protein retention receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11014 ; - skos:exactMatch HGNC_symbol:KDELR2 ; + skos:exactMatch UMLS:C1416623, + UMLS:C5436875, + HGNC:6305, + HGNC_symbol:KDELR2 ; biolink:category biolink:Gene . OMIM:609025 a owl:Class ; @@ -260381,7 +270202,6 @@ OMIM:609025 a owl:Class ; PMID:9856802 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:612318 ; - oboInOwl:hasDbXref UMLS:C1825763 ; oboInOwl:hasExactSynonym "KRT75", "k75", "kb18", @@ -260389,7 +270209,9 @@ OMIM:609025 a owl:Class ; "keratin 75, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9119 ; - skos:exactMatch HGNC_symbol:KRT75 ; + skos:exactMatch UMLS:C1825763, + HGNC:24431, + HGNC_symbol:KRT75 ; biolink:category biolink:Gene . OMIM:609028 a owl:Class ; @@ -260398,7 +270220,6 @@ OMIM:609028 a owl:Class ; PMID:12566447, PMID:15492226, PMID:26068852 ; - oboInOwl:hasDbXref UMLS:C1836941 ; oboInOwl:hasExactSynonym "TIFA", "tifaa", "traf-interacting protein with fha domain", @@ -260406,7 +270227,9 @@ OMIM:609028 a owl:Class ; "traf2-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92610 ; - skos:exactMatch HGNC_symbol:TIFA ; + skos:exactMatch UMLS:C1836941, + HGNC:19075, + HGNC_symbol:TIFA ; biolink:category biolink:Gene . OMIM:609029 a owl:Class ; @@ -260423,9 +270246,9 @@ OMIM:609029 a owl:Class ; PMID:7203479, PMID:7211960 ; RO:0002525 CHR:9606chr22q11.2 ; - oboInOwl:hasDbXref UMLS:C1836929 ; oboInOwl:hasExactSynonym "emanuel syndrome", "supernumerary der(22)t(11" ; + skos:exactMatch UMLS:C1836929 ; biolink:category biolink:Disease . OMIM:609030 a owl:Class ; @@ -260439,13 +270262,14 @@ OMIM:609030 a owl:Class ; PMID:18978791, PMID:20054295, PMID:24904170 ; - oboInOwl:hasDbXref UMLS:C1414028 ; oboInOwl:hasExactSynonym "DGCR8", "dgcr8 microprocessor complex subunit", "digeorge syndrome critical region gene 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54487 ; - skos:exactMatch HGNC_symbol:DGCR8 ; + skos:exactMatch UMLS:C1414028, + HGNC:2847, + HGNC_symbol:DGCR8 ; biolink:category biolink:Gene . OMIM:609031 a owl:Class ; @@ -260454,14 +270278,15 @@ OMIM:609031 a owl:Class ; PMID:12206714, PMID:12909348, PMID:15539605 ; - oboInOwl:hasDbXref UMLS:C1423841 ; oboInOwl:hasExactSynonym "EPPIN", "epididymal protease inhibitor", "serine protease inhibitor-like protein with kunitz and wap domains 1", "wap7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57119 ; - skos:exactMatch HGNC_symbol:EPPIN ; + skos:exactMatch UMLS:C1423841, + HGNC:15932, + HGNC_symbol:EPPIN ; biolink:category biolink:Gene . OMIM:609032 a owl:Class ; @@ -260470,74 +270295,79 @@ OMIM:609032 a owl:Class ; PMID:15520407, PMID:16632607, PMID:21937448 ; - oboInOwl:hasDbXref UMLS:C1836928 ; oboInOwl:hasExactSynonym "FRG2", "fshd gene 2", "fshd region gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:448831 ; - skos:exactMatch HGNC_symbol:FRG2 ; + skos:exactMatch UMLS:C1836928, + HGNC:19136, + HGNC_symbol:FRG2 ; biolink:category biolink:Gene . OMIM:609034 a owl:Class ; rdfs:label "HEYL" ; IAO:0000142 PMID:10860664 ; - oboInOwl:hasDbXref UMLS:C1415526 ; oboInOwl:hasExactSynonym "HEYL", "hairy/enhancer of split-related with yrpw motif-like protein", "hes-related bhlh transcription factor with yrpw motif-like protein", "hey-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26508 ; - skos:exactMatch HGNC_symbol:HEYL ; + skos:exactMatch UMLS:C1415526, + HGNC:4882, + HGNC_symbol:HEYL ; biolink:category biolink:Gene . OMIM:609035 a owl:Class ; rdfs:label "RAPH1" ; IAO:0000142 PMID:11214970, PMID:15469845 ; - oboInOwl:hasDbXref UMLS:C1422646 ; oboInOwl:hasExactSynonym "RAPH1", "kiaa1681", "lamellipodin", "ras association and pleckstrin homology domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65059 ; - skos:exactMatch HGNC_symbol:RAPH1 ; + skos:exactMatch UMLS:C1422646, + HGNC:14436, + HGNC_symbol:RAPH1 ; biolink:category biolink:Gene . OMIM:609036 a owl:Class ; rdfs:label "APBB1IP" ; IAO:0000142 PMID:14530287, PMID:15469846 ; - oboInOwl:hasDbXref UMLS:C1424947 ; oboInOwl:hasExactSynonym "APBB1IP", "apbb1-interacting protein", "rap1-interacting adaptor molecule", "retinoic acid-responsive proline-rich protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54518 ; - skos:exactMatch HGNC_symbol:APBB1IP ; + skos:exactMatch UMLS:C1424947, + HGNC:17379, + HGNC_symbol:APBB1IP ; biolink:category biolink:Gene . OMIM:609037 a owl:Class ; rdfs:label "mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature" ; IAO:0000142 PMID:12522796 ; - oboInOwl:hasDbXref UMLS:C1836915 ; - oboInOwl:hasExactSynonym "mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature" . + oboInOwl:hasExactSynonym "mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature" ; + skos:exactMatch UMLS:C1836915 . OMIM:609038 a owl:Class ; rdfs:label "RND1" ; IAO:0000142 PMID:10664463, PMID:11095956, PMID:9531558 ; - oboInOwl:hasDbXref UMLS:C1425441 ; oboInOwl:hasExactSynonym "RND1", "rho family gtpase 1", "rho6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27289 ; - skos:exactMatch HGNC_symbol:RND1 ; + skos:exactMatch UMLS:C1425441, + HGNC:18314, + HGNC_symbol:RND1 ; biolink:category biolink:Gene . OMIM:609042 a owl:Class ; @@ -260545,7 +270375,6 @@ OMIM:609042 a owl:Class ; IAO:0000142 PMID:14623098, PMID:14623103, PMID:20679218 ; - oboInOwl:hasDbXref UMLS:C1426589 ; oboInOwl:hasExactSynonym "OPN5", "g protein-coupled receptor 136", "neuropsin", @@ -260553,13 +270382,14 @@ OMIM:609042 a owl:Class ; "pgr12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221391 ; - skos:exactMatch HGNC_symbol:OPN5 ; + skos:exactMatch UMLS:C1426589, + HGNC:19992, + HGNC_symbol:OPN5 ; biolink:category biolink:Gene . OMIM:609043 a owl:Class ; rdfs:label "RXFP4" ; IAO:0000142 PMID:14623098 ; - oboInOwl:hasDbXref UMLS:C1826959 ; oboInOwl:hasExactSynonym "RXFP4", "g protein-coupled receptor 100", "g protein-coupled receptor 142", @@ -260568,7 +270398,9 @@ OMIM:609043 a owl:Class ; "rln3 receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339403 ; - skos:exactMatch HGNC_symbol:RXFP4 ; + skos:exactMatch UMLS:C1826959, + HGNC:14666, + HGNC_symbol:RXFP4 ; biolink:category biolink:Gene . OMIM:609044 a owl:Class ; @@ -260580,60 +270412,64 @@ OMIM:609044 a owl:Class ; PMID:27068006 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:607514 ; - oboInOwl:hasDbXref UMLS:C1425984 ; oboInOwl:hasExactSynonym "FFAR4", "free fatty acid receptor 4", "g protein-coupled receptor 120", "pgr4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338557 ; - skos:exactMatch HGNC_symbol:FFAR4 ; + skos:exactMatch UMLS:C1425984, + HGNC:19061, + HGNC_symbol:FFAR4 ; biolink:category biolink:Gene . OMIM:609045 a owl:Class ; rdfs:label "GPR141" ; IAO:0000142 PMID:14623098 ; - oboInOwl:hasDbXref UMLS:C1426590 ; oboInOwl:hasExactSynonym "GPR141", "g protein-coupled receptor 141", "pgr13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353345 ; - skos:exactMatch HGNC_symbol:GPR141 ; + skos:exactMatch UMLS:C1426590, + HGNC:19997, + HGNC_symbol:GPR141 ; biolink:category biolink:Gene . OMIM:609046 a owl:Class ; rdfs:label "GPR142" ; IAO:0000142 PMID:14623098, PMID:15845401 ; - oboInOwl:hasDbXref UMLS:C1426674 ; oboInOwl:hasExactSynonym "GPR142", "g protein-coupled receptor 142", "gprg1b", "pgr2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:350383 ; - skos:exactMatch HGNC_symbol:GPR142 ; + skos:exactMatch UMLS:C1426674, + HGNC:20088, + HGNC_symbol:GPR142 ; biolink:category biolink:Gene . OMIM:609047 a owl:Class ; rdfs:label "skeletal dysplasia, rhizomelic, with retinitis pigmentosa" ; IAO:0000142 PMID:15372527 ; - oboInOwl:hasDbXref UMLS:C1836898 ; - oboInOwl:hasExactSynonym "skeletal dysplasia, rhizomelic, with retinitis pigmentosa" . + oboInOwl:hasExactSynonym "skeletal dysplasia, rhizomelic, with retinitis pigmentosa" ; + skos:exactMatch UMLS:C1836898 . OMIM:609050 a owl:Class ; rdfs:label "MTA3" ; IAO:0000142 PMID:10574462, PMID:12705869, PMID:15169784 ; - oboInOwl:hasDbXref UMLS:C1428257 ; oboInOwl:hasExactSynonym "MTA3", "kiaa1266", "metastasis-associated gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57504 ; - skos:exactMatch HGNC_symbol:MTA3 ; + skos:exactMatch UMLS:C1428257, + HGNC:23784, + HGNC_symbol:MTA3 ; biolink:category biolink:Gene . OMIM:609051 a owl:Class ; @@ -260651,8 +270487,6 @@ OMIM:609051 a owl:Class ; PMID:29408806 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:619079 ; - oboInOwl:hasDbXref UMLS:C1424714, - UMLS:C5436750 ; oboInOwl:hasExactSynonym "CARD8", "card inhibitor of nfkb-activating ligands", "caspase recruitment domain-containing protein 8", @@ -260661,7 +270495,10 @@ OMIM:609051 a owl:Class ; "tumor-upregulated card-containing antagonist of casp9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22900 ; - skos:exactMatch HGNC_symbol:CARD8 ; + skos:exactMatch UMLS:C1424714, + UMLS:C5436750, + HGNC:17057, + HGNC_symbol:CARD8 ; biolink:category biolink:Gene . OMIM:609052 a owl:Class ; @@ -260669,10 +270506,10 @@ OMIM:609052 a owl:Class ; IAO:0000142 PMID:15517830, PMID:1870931, PMID:9637426 ; - oboInOwl:hasDbXref UMLS:C1836862 ; oboInOwl:hasExactSynonym "SMDA4", "spondylometaphyseal dysplasia, iia a4" ; rdfs:subClassOf OMIMPS:184255 ; + skos:exactMatch UMLS:C1836862 ; biolink:category biolink:Disease . OMIM:609054 a owl:Class ; @@ -260681,21 +270518,21 @@ OMIM:609054 a owl:Class ; PMID:16116423, PMID:16116424, PMID:21568838 ; - oboInOwl:hasDbXref UMLS:C1836860 ; oboInOwl:hasExactSynonym "FANCJ", "fanconi anemia, complementation group j" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C1836860 ; biolink:category biolink:Disease . OMIM:609057 a owl:Class ; rdfs:label "epidermolysis bullosa simplex 7, with nephropathy and deafness" ; IAO:0000142 PMID:15265795, PMID:3412548 ; - oboInOwl:hasDbXref UMLS:C1836823 ; oboInOwl:hasExactSynonym "EBS7", "epidermolysis bullosa simplex 7, with nephropathy and deafness", "nephropathy with pretibial epidermolysis bullosa and deafness" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C1836823 ; biolink:category biolink:Disease . OMIM:609058 a owl:Class ; @@ -260735,9 +270572,6 @@ OMIM:609058 a owl:Class ; PMID:9554742 ; RO:0002525 CHR:9606chr6p12.3 ; RO:0003303 OMIM:251000 ; - oboInOwl:hasDbXref UMLS:C1417504, - UMLS:C1855115, - UMLS:C1855116 ; oboInOwl:hasExactSynonym "MMUT", "mcm", "methylmalonyl-coa isomerase", @@ -260745,7 +270579,11 @@ OMIM:609058 a owl:Class ; "mut" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4594 ; - skos:exactMatch HGNC_symbol:MMUT ; + skos:exactMatch UMLS:C1417504, + UMLS:C1855115, + UMLS:C1855116, + HGNC:7526, + HGNC_symbol:MMUT ; biolink:category biolink:Gene . OMIM:609059 a owl:Class ; @@ -260762,7 +270600,6 @@ OMIM:609059 a owl:Class ; PMID:22832386 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:610717 ; - oboInOwl:hasDbXref UMLS:C1538686 ; oboInOwl:hasExactSynonym "PNPLA2", "adipose triglyceride lipase", "desnutrin", @@ -260773,7 +270610,9 @@ OMIM:609059 a owl:Class ; "tts2.2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57104 ; - skos:exactMatch HGNC_symbol:PNPLA2 ; + skos:exactMatch UMLS:C1538686, + HGNC:30802, + HGNC_symbol:PNPLA2 ; biolink:category biolink:Gene . OMIM:609061 a owl:Class ; @@ -260784,7 +270623,6 @@ OMIM:609061 a owl:Class ; PMID:16494957, PMID:19081071, PMID:9407065 ; - oboInOwl:hasDbXref UMLS:C1425409 ; oboInOwl:hasExactSynonym "ENAH", "ena", "enabled, drosophila, homolog of", @@ -260793,7 +270631,9 @@ OMIM:609061 a owl:Class ; "ndpp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55740 ; - skos:exactMatch HGNC_symbol:ENAH ; + skos:exactMatch UMLS:C1425409, + HGNC:18271, + HGNC_symbol:ENAH ; biolink:category biolink:Gene . OMIM:609062 a owl:Class ; @@ -260804,13 +270644,14 @@ OMIM:609062 a owl:Class ; PMID:8601806 ; RO:0002525 CHR:9606chr7p14.1 ; RO:0003303 OMIM:601583 ; - oboInOwl:hasDbXref UMLS:C1427701 ; oboInOwl:hasExactSynonym "POU6F2", "pou domain, class 6, transcription factor 2", "retina-derived pou-domain factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11281 ; - skos:exactMatch HGNC_symbol:POU6F2 ; + skos:exactMatch UMLS:C1427701, + HGNC:21694, + HGNC_symbol:POU6F2 ; biolink:category biolink:Gene . OMIM:609063 a owl:Class ; @@ -260823,27 +270664,29 @@ OMIM:609063 a owl:Class ; PMID:9006939 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:616811 ; - oboInOwl:hasDbXref UMLS:C1456398 ; oboInOwl:hasExactSynonym "TXN2", "thioredoxin 2", "thioredoxin, mitochondrial", "trx2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25828 ; - skos:exactMatch HGNC_symbol:TXN2 ; + skos:exactMatch UMLS:C1456398, + HGNC:17772, + HGNC_symbol:TXN2 ; biolink:category biolink:Gene . OMIM:609064 a owl:Class ; rdfs:label "CNDP1" ; IAO:0000142 PMID:12473676 ; - oboInOwl:hasDbXref UMLS:C1539109 ; oboInOwl:hasExactSynonym "CNDP1", "carnosinase 1", "carnosinase, serum", "carnosine dipeptidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84735 ; - skos:exactMatch HGNC_symbol:CNDP1 ; + skos:exactMatch UMLS:C1539109, + HGNC:20675, + HGNC_symbol:CNDP1 ; biolink:category biolink:Gene . OMIM:609065 a owl:Class ; @@ -260856,20 +270699,20 @@ OMIM:609066 a owl:Class ; PMID:12417594, PMID:13678582, PMID:32165588 ; - oboInOwl:hasDbXref UMLS:C1426808 ; oboInOwl:hasExactSynonym "AJUBA", "ajuba 51m protein", "ajuba, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84962 ; - skos:exactMatch HGNC_symbol:AJUBA ; + skos:exactMatch UMLS:C1426808, + HGNC:20250, + HGNC_symbol:AJUBA ; biolink:category biolink:Gene . OMIM:609067 a owl:Class ; rdfs:label "SCX" ; IAO:0000142 PMID:12705871, PMID:15338228 ; - oboInOwl:hasDbXref UMLS:C1822656 ; oboInOwl:hasExactSynonym "SCX", "scleraxis", "scleraxis bhlh transcription factor", @@ -260877,13 +270720,14 @@ OMIM:609067 a owl:Class ; "scleraxis, mouse, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642658 ; - skos:exactMatch HGNC_symbol:SCX ; + skos:exactMatch UMLS:C1822656, + HGNC:32322, + HGNC_symbol:SCX ; biolink:category biolink:Gene . OMIM:609068 a owl:Class ; rdfs:label "DAND5" ; IAO:0000142 PMID:15466485 ; - oboInOwl:hasDbXref UMLS:C1539218 ; oboInOwl:hasExactSynonym "DAND5", "cerberus, xenopus, homolog of, 2", "cerberus-like 2", @@ -260892,7 +270736,9 @@ OMIM:609068 a owl:Class ; "dante" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199699 ; - skos:exactMatch HGNC_symbol:DAND5 ; + skos:exactMatch UMLS:C1539218, + HGNC:26780, + HGNC_symbol:DAND5 ; biolink:category biolink:Gene . OMIM:609071 a owl:Class ; @@ -260901,13 +270747,14 @@ OMIM:609071 a owl:Class ; PMID:10531037, PMID:10828603, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422102 ; oboInOwl:hasExactSynonym "FBXW2", "f-box and wd40 domain protein 2", "fbw2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26190 ; - skos:exactMatch HGNC_symbol:FBXW2 ; + skos:exactMatch UMLS:C1422102, + HGNC:13608, + HGNC_symbol:FBXW2 ; biolink:category biolink:Gene . OMIM:609072 a owl:Class ; @@ -260916,13 +270763,14 @@ OMIM:609072 a owl:Class ; PMID:15520277, PMID:18381890, PMID:24444419 ; - oboInOwl:hasDbXref UMLS:C1422106 ; oboInOwl:hasExactSynonym "FBXW5", "f-box and wd40 domain protein 5", "fbw5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54461 ; - skos:exactMatch HGNC_symbol:FBXW5 ; + skos:exactMatch UMLS:C1422106, + HGNC:13613, + HGNC_symbol:FBXW5 ; biolink:category biolink:Gene . OMIM:609073 a owl:Class ; @@ -260931,7 +270779,6 @@ OMIM:609073 a owl:Class ; PMID:12481031, PMID:12904573, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422091 ; oboInOwl:hasExactSynonym "FBXW8", "f-box and wd40 domain protein 8", "fbw8", @@ -260939,26 +270786,28 @@ OMIM:609073 a owl:Class ; "fbxw6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26259 ; - skos:exactMatch HGNC_symbol:FBXW8 ; + skos:exactMatch UMLS:C1422091, + HGNC:13597, + HGNC_symbol:FBXW8 ; biolink:category biolink:Gene . OMIM:609074 a owl:Class ; rdfs:label "FBXW9" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539502 ; oboInOwl:hasExactSynonym "FBXW9", "f-box and wd40 domain protein 9", "fbw9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84261 ; - skos:exactMatch HGNC_symbol:FBXW9 ; + skos:exactMatch UMLS:C1539502, + HGNC:28136, + HGNC_symbol:FBXW9 ; biolink:category biolink:Gene . OMIM:609075 a owl:Class ; rdfs:label "FBXW12" ; IAO:0000142 PMID:15040455, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539507 ; oboInOwl:hasExactSynonym "FBXW12", "f-box and wd40 domain protein 12", "fbw12", @@ -260966,7 +270815,9 @@ OMIM:609075 a owl:Class ; "fbxo35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285231 ; - skos:exactMatch HGNC_symbol:FBXW12 ; + skos:exactMatch UMLS:C1539507, + HGNC:20729, + HGNC_symbol:FBXW12 ; biolink:category biolink:Gene . OMIM:609076 a owl:Class ; @@ -260974,27 +270825,29 @@ OMIM:609076 a owl:Class ; IAO:0000142 PMID:10531035, PMID:10531037, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422097 ; oboInOwl:hasExactSynonym "FBXL6", "f-box and leucine-rich repeat protein 6", "fbl6", "fbl6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26233 ; - skos:exactMatch HGNC_symbol:FBXL6 ; + skos:exactMatch UMLS:C1422097, + HGNC:13603, + HGNC_symbol:FBXL6 ; biolink:category biolink:Gene . OMIM:609077 a owl:Class ; rdfs:label "FBXL8" ; IAO:0000142 PMID:10531037, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1425148 ; oboInOwl:hasExactSynonym "FBXL8", "f-box and leucine-rich repeat protein 8", "fbl8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55336 ; - skos:exactMatch HGNC_symbol:FBXL8 ; + skos:exactMatch UMLS:C1425148, + HGNC:17875, + HGNC_symbol:FBXL8 ; biolink:category biolink:Gene . OMIM:609078 a owl:Class ; @@ -261006,7 +270859,6 @@ OMIM:609078 a owl:Class ; PMID:17994099, PMID:23029151, PMID:25848754 ; - oboInOwl:hasDbXref UMLS:C1422104 ; oboInOwl:hasExactSynonym "KDM2B", "cxxc finger protein 2", "f-box and leucine-rich repeat protein 10", @@ -261016,20 +270868,23 @@ OMIM:609078 a owl:Class ; "lysine-specific demethylase 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84678 ; - skos:exactMatch HGNC_symbol:KDM2B ; + skos:exactMatch UMLS:C1422104, + HGNC:13610, + HGNC_symbol:KDM2B ; biolink:category biolink:Gene . OMIM:609079 a owl:Class ; rdfs:label "FBXL12" ; IAO:0000142 PMID:10531037, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422105 ; oboInOwl:hasExactSynonym "FBXL12", "f-box and leucine-rich repeat protein 12", "fbl12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54850 ; - skos:exactMatch HGNC_symbol:FBXL12 ; + skos:exactMatch UMLS:C1422105, + HGNC:13611, + HGNC_symbol:FBXL12 ; biolink:category biolink:Gene . OMIM:609080 a owl:Class ; @@ -261037,85 +270892,90 @@ OMIM:609080 a owl:Class ; IAO:0000142 PMID:15520277, PMID:15820312, PMID:31961863 ; - oboInOwl:hasDbXref UMLS:C1539481 ; oboInOwl:hasExactSynonym "FBXL13", "dynein regulatory complex subunit 6", "f-box and leucine-rich repeat protein 13", "fbl13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222235 ; - skos:exactMatch HGNC_symbol:FBXL13 ; + skos:exactMatch UMLS:C1539481, + HGNC:21658, + HGNC_symbol:FBXL13 ; biolink:category biolink:Gene . OMIM:609081 a owl:Class ; rdfs:label "FBXL14" ; IAO:0000142 PMID:15520277, PMID:19955572 ; - oboInOwl:hasDbXref UMLS:C1428723 ; oboInOwl:hasExactSynonym "FBXL14", "f-box and leucine-rich repeat protein 14", "fbl14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144699 ; - skos:exactMatch HGNC_symbol:FBXL14 ; + skos:exactMatch UMLS:C1428723, + HGNC:28624, + HGNC_symbol:FBXL14 ; biolink:category biolink:Gene . OMIM:609082 a owl:Class ; rdfs:label "FBXL16" ; IAO:0000142 PMID:11157797, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539483 ; oboInOwl:hasExactSynonym "FBXL16", "chromosome 16 open reading frame 22", "f-box and leucine-rich repeat protein 16", "fbl16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146330 ; - skos:exactMatch HGNC_symbol:FBXL16 ; + skos:exactMatch UMLS:C1539483, + HGNC:14150, + HGNC_symbol:FBXL16 ; biolink:category biolink:Gene . OMIM:609083 a owl:Class ; rdfs:label "FBXL17" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539484 ; oboInOwl:hasExactSynonym "FBXL17", "f-box and leucine-rich repeat protein 17", "fbl17", "fbxo13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64839 ; - skos:exactMatch HGNC_symbol:FBXL17 ; + skos:exactMatch UMLS:C1539484, + HGNC:13615, + HGNC_symbol:FBXL17 ; biolink:category biolink:Gene . OMIM:609084 a owl:Class ; rdfs:label "FBXL18" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539485 ; oboInOwl:hasExactSynonym "FBXL18", "f-box and leucine-rich repeat protein 18", "fbl18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80028 ; - skos:exactMatch HGNC_symbol:FBXL18 ; + skos:exactMatch UMLS:C1539485, + HGNC:21874, + HGNC_symbol:FBXL18 ; biolink:category biolink:Gene . OMIM:609085 a owl:Class ; rdfs:label "FBXL19" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539486 ; oboInOwl:hasExactSynonym "FBXL19", "f-box and leucine-rich repeat protein 19", "fbl19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54620 ; - skos:exactMatch HGNC_symbol:FBXL19 ; + skos:exactMatch UMLS:C1539486, + HGNC:25300, + HGNC_symbol:FBXL19 ; biolink:category biolink:Gene . OMIM:609086 a owl:Class ; rdfs:label "FBXL20" ; IAO:0000142 PMID:15520277, PMID:17803915 ; - oboInOwl:hasDbXref UMLS:C1539487 ; oboInOwl:hasExactSynonym "FBXL20", "f-box and leucine-rich repeat protein 20", "fbl2", @@ -261123,7 +270983,9 @@ OMIM:609086 a owl:Class ; "scrapper" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84961 ; - skos:exactMatch HGNC_symbol:FBXL20 ; + skos:exactMatch UMLS:C1539487, + HGNC:24679, + HGNC_symbol:FBXL20 ; biolink:category biolink:Gene . OMIM:609087 a owl:Class ; @@ -261131,26 +270993,28 @@ OMIM:609087 a owl:Class ; IAO:0000142 PMID:10531035, PMID:15520277, PMID:23452856 ; - oboInOwl:hasDbXref UMLS:C1539488 ; oboInOwl:hasExactSynonym "FBXL21", "f-box and leucine-rich repeat protein 21", "fbl21", "fbxl3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26223 ; - skos:exactMatch HGNC_symbol:FBXL21P ; + skos:exactMatch UMLS:C1539488, + HGNC:13600, + HGNC_symbol:FBXL21P ; biolink:category biolink:Gene . OMIM:609088 a owl:Class ; rdfs:label "FBXL22" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539489 ; oboInOwl:hasExactSynonym "FBXL22", "f-box and leucine-rich repeat protein 22", "fbl22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283807 ; - skos:exactMatch HGNC_symbol:FBXL22 ; + skos:exactMatch UMLS:C1539489, + HGNC:27537, + HGNC_symbol:FBXL22 ; biolink:category biolink:Gene . OMIM:609089 a owl:Class ; @@ -261159,14 +271023,15 @@ OMIM:609089 a owl:Class ; PMID:10568747, PMID:10945468, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422077 ; oboInOwl:hasExactSynonym "FBXO3", "f-box only protein 3", "fba", "fbx3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26273 ; - skos:exactMatch HGNC_symbol:FBXO3 ; + skos:exactMatch UMLS:C1422077, + HGNC:13582, + HGNC_symbol:FBXO3 ; biolink:category biolink:Gene . OMIM:609090 a owl:Class ; @@ -261175,41 +271040,44 @@ OMIM:609090 a owl:Class ; PMID:10531037, PMID:10828603, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422078 ; oboInOwl:hasExactSynonym "FBXO4", "f-box only protein 4", "fbx4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26272 ; - skos:exactMatch HGNC_symbol:FBXO4 ; + skos:exactMatch UMLS:C1422078, + HGNC:13583, + HGNC_symbol:FBXO4 ; biolink:category biolink:Gene . OMIM:609091 a owl:Class ; rdfs:label "FBXO9" ; IAO:0000142 PMID:10531035, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422083 ; oboInOwl:hasExactSynonym "FBXO9", "f-box only protein 9", "fbx9", "ny-ren-57" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26268 ; - skos:exactMatch HGNC_symbol:FBXO9 ; + skos:exactMatch UMLS:C1422083, + HGNC:13588, + HGNC_symbol:FBXO9 ; biolink:category biolink:Gene . OMIM:609092 a owl:Class ; rdfs:label "FBXO10" ; IAO:0000142 PMID:15520277, PMID:19300908 ; - oboInOwl:hasDbXref UMLS:C1422084 ; oboInOwl:hasExactSynonym "FBXO10", "f-box only protein 10", "fbx10", "protein arginine methyltransferase 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26267 ; - skos:exactMatch HGNC_symbol:FBXO10 ; + skos:exactMatch UMLS:C1422084, + HGNC:13589, + HGNC_symbol:FBXO10 ; biolink:category biolink:Gene . OMIM:609093 a owl:Class ; @@ -261220,13 +271088,14 @@ OMIM:609093 a owl:Class ; PMID:16904174, PMID:17554336, PMID:17554338 ; - oboInOwl:hasDbXref UMLS:C1422108 ; oboInOwl:hasExactSynonym "FBXO15", "f-box only protein 15", "fbx15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201456 ; - skos:exactMatch HGNC_symbol:FBXO15 ; + skos:exactMatch UMLS:C1422108, + HGNC:13617, + HGNC_symbol:FBXO15 ; biolink:category biolink:Gene . OMIM:609094 a owl:Class ; @@ -261234,7 +271103,6 @@ OMIM:609094 a owl:Class ; IAO:0000142 PMID:10531037, PMID:12383498, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539490 ; oboInOwl:hasExactSynonym "FBXO17", "f-box only protein 17", "fbg4", @@ -261242,73 +271110,80 @@ OMIM:609094 a owl:Class ; "fbxo26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115290 ; - skos:exactMatch HGNC_symbol:FBXO17 ; + skos:exactMatch UMLS:C1539490, + HGNC:18754, + HGNC_symbol:FBXO17 ; biolink:category biolink:Gene . OMIM:609095 a owl:Class ; rdfs:label "FBXO21" ; IAO:0000142 PMID:10048485, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422086 ; oboInOwl:hasExactSynonym "FBXO21", "f-box only protein 21", "fbx21", "kiaa0875" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23014 ; - skos:exactMatch HGNC_symbol:FBXO21 ; + skos:exactMatch UMLS:C1422086, + HGNC:13592, + HGNC_symbol:FBXO21 ; biolink:category biolink:Gene . OMIM:609096 a owl:Class ; rdfs:label "FBXO22" ; IAO:0000142 PMID:15520277, PMID:21768309 ; - oboInOwl:hasDbXref UMLS:C1422087 ; oboInOwl:hasExactSynonym "FBXO22", "f-box only protein 22", "fbx22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26263 ; - skos:exactMatch HGNC_symbol:FBXO22 ; + skos:exactMatch UMLS:C1422087, + HGNC:13593, + HGNC_symbol:FBXO22 ; biolink:category biolink:Gene . OMIM:609097 a owl:Class ; rdfs:label "FBXO24" ; IAO:0000142 PMID:15520277, PMID:25582197 ; - oboInOwl:hasDbXref UMLS:C1422089 ; oboInOwl:hasExactSynonym "FBXO24", "f-box only protein 24", "fbx24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26261 ; - skos:exactMatch HGNC_symbol:FBXO24 ; + skos:exactMatch UMLS:C1422089, + HGNC:13595, + HGNC_symbol:FBXO24 ; biolink:category biolink:Gene . OMIM:609098 a owl:Class ; rdfs:label "FBXO25" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1422090 ; oboInOwl:hasExactSynonym "FBXO25", "f-box only protein 25", "fbx25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26260 ; - skos:exactMatch HGNC_symbol:FBXO25 ; + skos:exactMatch UMLS:C1422090, + HGNC:13596, + HGNC_symbol:FBXO25 ; biolink:category biolink:Gene . OMIM:609099 a owl:Class ; rdfs:label "FBXO27" ; IAO:0000142 PMID:12383498, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1425759 ; oboInOwl:hasExactSynonym "FBXO27", "f-box only protein 27", "fbg5", "fbx27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126433 ; - skos:exactMatch HGNC_symbol:FBXO27 ; + skos:exactMatch UMLS:C1425759, + HGNC:18753, + HGNC_symbol:FBXO27 ; biolink:category biolink:Gene . OMIM:609100 a owl:Class ; @@ -261316,27 +271191,29 @@ OMIM:609100 a owl:Class ; IAO:0000142 PMID:15520277 ; RO:0002525 CHR:9606chr1q42.11 ; RO:0003303 OMIM:619777 ; - oboInOwl:hasDbXref UMLS:C1539491 ; oboInOwl:hasExactSynonym "FBXO28", "f-box only protein 28", "fbx28", "kiaa0483" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23219 ; - skos:exactMatch HGNC_symbol:FBXO28 ; + skos:exactMatch UMLS:C1539491, + HGNC:29046, + HGNC_symbol:FBXO28 ; biolink:category biolink:Gene . OMIM:609101 a owl:Class ; rdfs:label "FBXO30" ; IAO:0000142 PMID:15520277, PMID:24076600 ; - oboInOwl:hasDbXref UMLS:C1423608 ; oboInOwl:hasExactSynonym "FBXO30", "f-box only protein 30", "fbx30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84085 ; - skos:exactMatch HGNC_symbol:FBXO30 ; + skos:exactMatch UMLS:C1423608, + HGNC:15600, + HGNC_symbol:FBXO30 ; biolink:category biolink:Gene . OMIM:609102 a owl:Class ; @@ -261349,90 +271226,97 @@ OMIM:609102 a owl:Class ; PMID:24623383 ; RO:0002525 CHR:9606chr16q24.2 ; RO:0003303 OMIM:615979 ; - oboInOwl:hasDbXref UMLS:C1424342 ; oboInOwl:hasExactSynonym "FBXO31", "f-box only protein 31", "fbx31", "fbxo14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79791 ; - skos:exactMatch HGNC_symbol:FBXO31 ; + skos:exactMatch UMLS:C1424342, + HGNC:16510, + HGNC_symbol:FBXO31 ; biolink:category biolink:Gene . OMIM:609103 a owl:Class ; rdfs:label "FBXO33" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1426460 ; oboInOwl:hasExactSynonym "FBXO33", "f-box only protein 33", "fbx33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254170 ; - skos:exactMatch HGNC_symbol:FBXO33 ; + skos:exactMatch UMLS:C1426460, + HGNC:19833, + HGNC_symbol:FBXO33 ; biolink:category biolink:Gene . OMIM:609104 a owl:Class ; rdfs:label "FBXO34" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1426770 ; oboInOwl:hasExactSynonym "FBXO34", "f-box only protein 34", "fbx34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55030 ; - skos:exactMatch HGNC_symbol:FBXO34 ; + skos:exactMatch UMLS:C1426770, + HGNC:20201, + HGNC_symbol:FBXO34 ; biolink:category biolink:Gene . OMIM:609105 a owl:Class ; rdfs:label "FBXO36" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1428640 ; oboInOwl:hasExactSynonym "FBXO36", "f-box only protein 36", "fbx36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130888 ; - skos:exactMatch HGNC_symbol:FBXO36 ; + skos:exactMatch UMLS:C1428640, + HGNC:27020, + HGNC_symbol:FBXO36 ; biolink:category biolink:Gene . OMIM:609106 a owl:Class ; rdfs:label "FBXO39" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539493 ; oboInOwl:hasExactSynonym "FBXO39", "f-box only protein 39", "fbx39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162517 ; - skos:exactMatch HGNC_symbol:FBXO39 ; + skos:exactMatch UMLS:C1539493, + HGNC:28565, + HGNC_symbol:FBXO39 ; biolink:category biolink:Gene . OMIM:609107 a owl:Class ; rdfs:label "FBXO40" ; IAO:0000142 PMID:10574462, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539494 ; oboInOwl:hasExactSynonym "FBXO40", "f-box only protein 40", "fbx40", "kiaa1195" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51725 ; - skos:exactMatch HGNC_symbol:FBXO40 ; + skos:exactMatch UMLS:C1539494, + HGNC:29816, + HGNC_symbol:FBXO40 ; biolink:category biolink:Gene . OMIM:609108 a owl:Class ; rdfs:label "FBXO41" ; IAO:0000142 PMID:11853319, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539495 ; oboInOwl:hasExactSynonym "FBXO41", "f-box only protein 41", "fbx41", "kiaa1940" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150726 ; - skos:exactMatch HGNC_symbol:FBXO41 ; + skos:exactMatch UMLS:C1539495, + HGNC:29409, + HGNC_symbol:FBXO41 ; biolink:category biolink:Gene . OMIM:609109 a owl:Class ; @@ -261440,7 +271324,6 @@ OMIM:609109 a owl:Class ; IAO:0000142 PMID:10718198, PMID:15520277, PMID:19509332 ; - oboInOwl:hasDbXref UMLS:C1539496 ; oboInOwl:hasExactSynonym "FBXO42", "f-box only protein 42", "fbx42", @@ -261448,7 +271331,9 @@ OMIM:609109 a owl:Class ; "kiaa1332" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54455 ; - skos:exactMatch HGNC_symbol:FBXO42 ; + skos:exactMatch UMLS:C1539496, + HGNC:29249, + HGNC_symbol:FBXO42 ; biolink:category biolink:Gene . OMIM:609110 a owl:Class ; @@ -261461,7 +271346,6 @@ OMIM:609110 a owl:Class ; PMID:23019610 ; RO:0002525 CHR:9606chr8q22.2 ; RO:0003303 OMIM:619696 ; - oboInOwl:hasDbXref UMLS:C1539497 ; oboInOwl:hasExactSynonym "FBXO43", "endogenous meiotic inhibitor 2, xenopus, homolog of", "erp1, xenopus, homolog of", @@ -261469,7 +271353,9 @@ OMIM:609110 a owl:Class ; "fbx43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286151 ; - skos:exactMatch HGNC_symbol:FBXO43 ; + skos:exactMatch UMLS:C1539497, + HGNC:28521, + HGNC_symbol:FBXO43 ; biolink:category biolink:Gene . OMIM:609111 a owl:Class ; @@ -261477,7 +271363,6 @@ OMIM:609111 a owl:Class ; IAO:0000142 PMID:10531035, PMID:12383498, PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539498 ; oboInOwl:hasExactSynonym "FBXO44", "f-box only protein 44", "fbg3", @@ -261485,7 +271370,9 @@ OMIM:609111 a owl:Class ; "fbx6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93611 ; - skos:exactMatch HGNC_symbol:FBXO44 ; + skos:exactMatch UMLS:C1539498, + HGNC:24847, + HGNC_symbol:FBXO44 ; biolink:category biolink:Gene . OMIM:609112 a owl:Class ; @@ -261494,13 +271381,14 @@ OMIM:609112 a owl:Class ; PMID:16012741, PMID:19398581, PMID:19996097 ; - oboInOwl:hasDbXref UMLS:C1539499 ; oboInOwl:hasExactSynonym "FBXO45", "f-box only protein 45", "fbx45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200933 ; - skos:exactMatch HGNC_symbol:FBXO45 ; + skos:exactMatch UMLS:C1539499, + HGNC:29148, + HGNC_symbol:FBXO45 ; biolink:category biolink:Gene . OMIM:609114 a owl:Class ; @@ -261510,26 +271398,28 @@ OMIM:609114 a owl:Class ; PMID:2156828, PMID:6893966, PMID:8399167 ; - oboInOwl:hasDbXref UMLS:C1423702 ; oboInOwl:hasExactSynonym "DSTN", "actin depolymerizing factor", "destrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11034 ; - skos:exactMatch HGNC_symbol:DSTN ; + skos:exactMatch UMLS:C1423702, + HGNC:15750, + HGNC_symbol:DSTN ; biolink:category biolink:Gene . OMIM:609117 a owl:Class ; rdfs:label "FBXO46" ; IAO:0000142 PMID:15520277, PMID:9585442 ; - oboInOwl:hasDbXref UMLS:C1539500 ; oboInOwl:hasExactSynonym "FBXO46", "f-box only protein 46", "fbx46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23403 ; - skos:exactMatch HGNC_symbol:FBXO46 ; + skos:exactMatch UMLS:C1539500, + HGNC:25069, + HGNC_symbol:FBXO46 ; biolink:category biolink:Gene . OMIM:609118 a owl:Class ; @@ -261544,27 +271434,29 @@ OMIM:609118 a owl:Class ; PMID:21859843 ; RO:0002525 CHR:9606chr3q26.1 ; RO:0003303 OMIM:603285 ; - oboInOwl:hasDbXref UMLS:C1418402 ; oboInOwl:hasExactSynonym "PDCD10", "ccm3 gene", "programmed cell death 10", "tfar15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11235 ; - skos:exactMatch HGNC_symbol:PDCD10 ; + skos:exactMatch UMLS:C1418402, + HGNC:8761, + HGNC_symbol:PDCD10 ; biolink:category biolink:Gene . OMIM:609119 a owl:Class ; rdfs:label "THAP11" ; IAO:0000142 PMID:12575992, PMID:18585351 ; - oboInOwl:hasDbXref UMLS:C1427980 ; oboInOwl:hasExactSynonym "THAP11", "ronin", "thap domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57215 ; - skos:exactMatch HGNC_symbol:THAP11 ; + skos:exactMatch UMLS:C1427980, + HGNC:23194, + HGNC_symbol:THAP11 ; biolink:category biolink:Gene . OMIM:609120 a owl:Class ; @@ -261572,36 +271464,39 @@ OMIM:609120 a owl:Class ; IAO:0000142 PMID:12646162, PMID:12932298, PMID:20551230 ; - oboInOwl:hasDbXref UMLS:C1427149 ; oboInOwl:hasExactSynonym "CATSPER3", "cation channel, sperm-associated, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347732 ; - skos:exactMatch HGNC_symbol:CATSPER3 ; + skos:exactMatch UMLS:C1427149, + HGNC:20819, + HGNC_symbol:CATSPER3 ; biolink:category biolink:Gene . OMIM:609121 a owl:Class ; rdfs:label "CATSPER4" ; IAO:0000142 PMID:12932298, PMID:20551230 ; - oboInOwl:hasDbXref UMLS:C1427998 ; oboInOwl:hasExactSynonym "CATSPER4", "cation channel, sperm-associated, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:378807 ; - skos:exactMatch HGNC_symbol:CATSPER4 ; + skos:exactMatch UMLS:C1427998, + HGNC:23220, + HGNC_symbol:CATSPER4 ; biolink:category biolink:Gene . OMIM:609123 a owl:Class ; rdfs:label "ATP8B4" ; IAO:0000142 PMID:11853319 ; - oboInOwl:hasDbXref UMLS:C1422046 ; oboInOwl:hasExactSynonym "ATP8B4", "atpase, class i, iia 8b, member 4", "kiaa1939" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79895 ; - skos:exactMatch HGNC_symbol:ATP8B4 ; + skos:exactMatch UMLS:C1422046, + HGNC:13536, + HGNC_symbol:ATP8B4 ; biolink:category biolink:Gene . OMIM:609124 a owl:Class ; @@ -261609,7 +271504,6 @@ OMIM:609124 a owl:Class ; IAO:0000142 PMID:11927637, PMID:15527981, PMID:16286649 ; - oboInOwl:hasDbXref UMLS:C1424990 ; oboInOwl:hasExactSynonym "ZNF385A", "hematopoietic zinc finger protein", "retinal zinc finger protein", @@ -261617,32 +271511,36 @@ OMIM:609124 a owl:Class ; "zinc finger protein 385a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25946 ; - skos:exactMatch HGNC_symbol:ZNF385A ; + skos:exactMatch UMLS:C1424990, + HGNC:17521, + HGNC_symbol:ZNF385A ; biolink:category biolink:Gene . OMIM:609125 a owl:Class ; rdfs:label "MOSPD3" ; IAO:0000142 PMID:15533722 ; - oboInOwl:hasDbXref UMLS:C1428444 ; oboInOwl:hasExactSynonym "MOSPD3", "motile sperm domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64598 ; - skos:exactMatch HGNC_symbol:MOSPD3 ; + skos:exactMatch UMLS:C1428444, + HGNC:25078, + HGNC_symbol:MOSPD3 ; biolink:category biolink:Gene . OMIM:609126 a owl:Class ; rdfs:label "ATP9A" ; IAO:0000142 PMID:11015572, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1422050 ; oboInOwl:hasExactSynonym "ATP9A", "atpase 2a", "atpase, class ii, iia 9a", "kiaa0611" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10079 ; - skos:exactMatch HGNC_symbol:ATP9A ; + skos:exactMatch UMLS:C1422050, + HGNC:13540, + HGNC_symbol:ATP9A ; biolink:category biolink:Gene . OMIM:609127 a owl:Class ; @@ -261656,14 +271554,15 @@ OMIM:609130 a owl:Class ; PMID:19620631, PMID:20347428, PMID:20347429 ; - oboInOwl:hasDbXref UMLS:C1427959 ; oboInOwl:hasExactSynonym "CENPS", "apoptosis-inducing, taf9-like domain 1", "centromeric protein s", "fancm-interacting histone-fold protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:378708 ; - skos:exactMatch HGNC_symbol:CENPS ; + skos:exactMatch UMLS:C1427959, + HGNC:23163, + HGNC_symbol:CENPS ; biolink:category biolink:Gene . OMIM:609131 a owl:Class ; @@ -261672,12 +271571,13 @@ OMIM:609131 a owl:Class ; PMID:12909588, PMID:14502431, PMID:9892664 ; - oboInOwl:hasDbXref UMLS:C1413477 ; oboInOwl:hasExactSynonym "CLDN7", "claudin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1366 ; - skos:exactMatch HGNC_symbol:CLDN7 ; + skos:exactMatch UMLS:C1413477, + HGNC:2049, + HGNC_symbol:CLDN7 ; biolink:category biolink:Gene . OMIM:609132 a owl:Class ; @@ -261708,7 +271608,6 @@ OMIM:609132 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr1p36.12 ; RO:0003303 OMIM:616728 ; - oboInOwl:hasDbXref UMLS:C1428785 ; oboInOwl:hasExactSynonym "KDM1A", "amine oxidase, flavin-containing, 2", "braf35/hdac complex, 110-kd subunit", @@ -261718,20 +271617,23 @@ OMIM:609132 a owl:Class ; "lysine-specific demethylase 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23028 ; - skos:exactMatch HGNC_symbol:KDM1A ; + skos:exactMatch UMLS:C1428785, + HGNC:29079, + HGNC_symbol:KDM1A ; biolink:category biolink:Gene . OMIM:609133 a owl:Class ; rdfs:label "FIZ1" ; IAO:0000142 PMID:10409713, PMID:12566383 ; - oboInOwl:hasDbXref UMLS:C1825301 ; oboInOwl:hasExactSynonym "FIZ1", "flj14768", "flt3-interacting zinc finger protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84922 ; - skos:exactMatch HGNC_symbol:FIZ1 ; + skos:exactMatch UMLS:C1825301, + HGNC:25917, + HGNC_symbol:FIZ1 ; biolink:category biolink:Gene . OMIM:609134 a owl:Class ; @@ -261740,14 +271642,15 @@ OMIM:609134 a owl:Class ; PMID:15317757, PMID:20080676, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1540154 ; oboInOwl:hasExactSynonym "UBR2", "chromosome 6 open reading frame 133", "kiaa0349", "ubiquitin-protein ligase e3 component n-recognin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23304 ; - skos:exactMatch HGNC_symbol:UBR2 ; + skos:exactMatch UMLS:C1540154, + HGNC:21289, + HGNC_symbol:UBR2 ; biolink:category biolink:Gene . OMIM:609136 a owl:Class ; @@ -261762,33 +271665,35 @@ OMIM:609136 a owl:Class ; PMID:17999358, PMID:19764030, PMID:23237859 ; - oboInOwl:hasDbXref UMLS:C1836727 ; oboInOwl:hasExactSynonym "PCWH", "peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease", "waardenburg-shah syndrome, neurologic variant" ; + skos:exactMatch UMLS:C1836727 ; biolink:category biolink:Disease . OMIM:609137 a owl:Class ; rdfs:label "RTP1" ; IAO:0000142 PMID:15550249, PMID:16720576 ; - oboInOwl:hasDbXref UMLS:C1826951 ; oboInOwl:hasExactSynonym "RTP1", "receptor-transporting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132112 ; - skos:exactMatch HGNC_symbol:RTP1 ; + skos:exactMatch UMLS:C1826951, + HGNC:28580, + HGNC_symbol:RTP1 ; biolink:category biolink:Gene . OMIM:609138 a owl:Class ; rdfs:label "RTP2" ; IAO:0000142 PMID:15550249 ; - oboInOwl:hasDbXref UMLS:C1826952 ; oboInOwl:hasExactSynonym "RTP2", "receptor-transporting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344892 ; - skos:exactMatch HGNC_symbol:RTP2 ; + skos:exactMatch UMLS:C1826952, + HGNC:32486, + HGNC_symbol:RTP2 ; biolink:category biolink:Gene . OMIM:609139 a owl:Class ; @@ -261804,13 +271709,14 @@ OMIM:609139 a owl:Class ; PMID:27066569 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:610250 ; - oboInOwl:hasDbXref UMLS:C1826793 ; oboInOwl:hasExactSynonym "REEP1", "chromosome 2 open reading frame 23", "receptor expression-enhancing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65055 ; - skos:exactMatch HGNC_symbol:REEP1 ; + skos:exactMatch UMLS:C1826793, + HGNC:25786, + HGNC_symbol:REEP1 ; biolink:category biolink:Gene . OMIM:609142 a owl:Class ; @@ -261824,7 +271730,6 @@ OMIM:609142 a owl:Class ; PMID:2050678, PMID:22064717, PMID:8508798 ; - oboInOwl:hasDbXref UMLS:C1413307 ; oboInOwl:hasExactSynonym "CEACAM3", "carcinoembryonic antigen-related cell adhesion molecule 3", "cd66d", @@ -261832,7 +271737,9 @@ OMIM:609142 a owl:Class ; "cgm1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1084 ; - skos:exactMatch HGNC_symbol:CEACAM3 ; + skos:exactMatch UMLS:C1413307, + HGNC:1815, + HGNC_symbol:CEACAM3 ; biolink:category biolink:Gene . OMIM:609143 a owl:Class ; @@ -261854,14 +271761,15 @@ OMIM:609144 a owl:Class ; PMID:9855554 ; RO:0002525 CHR:9606chr1q32.3 ; RO:0003303 OMIM:609033 ; - oboInOwl:hasDbXref UMLS:C1836722 ; oboInOwl:hasExactSynonym "FLVCR1", "feline leukemia virus subgroup c receptor 1", "flvcr", "flvcr heme transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28982 ; - skos:exactMatch HGNC_symbol:FLVCR1 ; + skos:exactMatch UMLS:C1836722, + HGNC:24682, + HGNC_symbol:FLVCR1 ; biolink:category biolink:Gene . OMIM:609145 a owl:Class ; @@ -261875,28 +271783,30 @@ OMIM:609145 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:618356 ; - oboInOwl:hasDbXref UMLS:C1826398, - UMLS:C5193049 ; oboInOwl:hasExactSynonym "NFASC", "kiaa0756", "neurofascin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23114 ; - skos:exactMatch HGNC_symbol:NFASC ; + skos:exactMatch UMLS:C1826398, + UMLS:C5193049, + HGNC:29866, + HGNC_symbol:NFASC ; biolink:category biolink:Gene . OMIM:609146 a owl:Class ; rdfs:label "RIC8A" ; IAO:0000142 PMID:12509430, PMID:15479639 ; - oboInOwl:hasDbXref UMLS:C1826828 ; oboInOwl:hasExactSynonym "RIC8A", "ric8 guanine nucleotide exchange factor a", "ric8, c. elegans, homolog of, a", "synembryn, c. elegans, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60626 ; - skos:exactMatch HGNC_symbol:RIC8A ; + skos:exactMatch UMLS:C1826828, + HGNC:29550, + HGNC_symbol:RIC8A ; biolink:category biolink:Gene . OMIM:609147 a owl:Class ; @@ -261905,28 +271815,30 @@ OMIM:609147 a owl:Class ; PMID:12652642, PMID:15479639, PMID:16754875 ; - oboInOwl:hasDbXref UMLS:C1826829 ; oboInOwl:hasExactSynonym "RIC8B", "ric8 guanine nucleotide exchange factor B", "ric8, c. elegans, homolog of, B", "synembryn, c. elegans, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55188 ; - skos:exactMatch HGNC_symbol:RIC8B ; + skos:exactMatch UMLS:C1826829, + HGNC:25555, + HGNC_symbol:RIC8B ; biolink:category biolink:Gene . OMIM:609149 a owl:Class ; rdfs:label "SLC29A4" ; IAO:0000142 PMID:15448143, PMID:23255610 ; - oboInOwl:hasDbXref UMLS:C1427914 ; oboInOwl:hasExactSynonym "SLC29A4", "equilibrative nucleoside transporter 4", "plasma membrane monoamine transporter", "solute carrier family 29 (monoamine transporter), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222962 ; - skos:exactMatch HGNC_symbol:SLC29A4 ; + skos:exactMatch UMLS:C1427914, + HGNC:23097, + HGNC_symbol:SLC29A4 ; biolink:category biolink:Gene . OMIM:609150 a owl:Class ; @@ -261938,26 +271850,28 @@ OMIM:609150 a owl:Class ; PMID:16253997, PMID:20393567, PMID:30365547 ; - oboInOwl:hasDbXref UMLS:C1428372 ; oboInOwl:hasExactSynonym "CXXC1", "cpg-binding protein", "cxxc finger protein 1", "protein containing cxxc domain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30827 ; - skos:exactMatch HGNC_symbol:CXXC1 ; + skos:exactMatch UMLS:C1428372, + HGNC:24343, + HGNC_symbol:CXXC1 ; biolink:category biolink:Gene . OMIM:609151 a owl:Class ; rdfs:label "UBXN11" ; IAO:0000142 PMID:11940653 ; - oboInOwl:hasDbXref UMLS:C1823584 ; oboInOwl:hasExactSynonym "UBXN11", "socius", "ubx domain protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91544 ; - skos:exactMatch HGNC_symbol:UBXN11 ; + skos:exactMatch UMLS:C1823584, + HGNC:30600, + HGNC_symbol:UBXN11 ; biolink:category biolink:Gene . OMIM:609152 a owl:Class ; @@ -261969,11 +271883,11 @@ OMIM:609152 a owl:Class ; PMID:8964822, PMID:9385128, PMID:946383 ; - oboInOwl:hasDbXref UMLS:C1836706 ; oboInOwl:hasExactSynonym "hyperthyroidism, congenital nonautoimmune", "hyperthyroidism, nonautoimmune", "hyperthyroidism, nonautoimmune, autosomal dominant", "toxic thyroid hyperplasia, autosomal dominant" ; + skos:exactMatch UMLS:C1836706 ; biolink:category biolink:Disease . OMIM:609153 a owl:Class ; @@ -261992,7 +271906,6 @@ OMIM:609153 a owl:Class ; PMID:6123793, PMID:89283 ; RO:0002525 CHR:9606chr2q35-q36 ; - oboInOwl:hasDbXref UMLS:C1836705 ; oboInOwl:hasExactSynonym "PSHK2", "cryohydrocytosis, mild", "pseudohyperkalemia cardiff", @@ -262001,6 +271914,7 @@ OMIM:609153 a owl:Class ; "pseudohyperkalemia falkirk", "pseudohyperkalemia lille", "pseudohyperkalemia, familial, 2, due to red cell leak" ; + skos:exactMatch UMLS:C1836705 ; biolink:category biolink:Disease . OMIM:609154 a owl:Class ; @@ -262008,7 +271922,6 @@ OMIM:609154 a owl:Class ; IAO:0000142 PMID:11528127, PMID:11784080, PMID:15475265 ; - oboInOwl:hasDbXref UMLS:C1412576 ; oboInOwl:hasExactSynonym "ASCL3", "achaete-scute complex, drosophila, homolog of, 3", "achaete-scute family bhlh transcription factor 3", @@ -262016,46 +271929,51 @@ OMIM:609154 a owl:Class ; "sgn1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56676 ; - skos:exactMatch HGNC_symbol:ASCL3 ; + skos:exactMatch UMLS:C1412576, + HGNC:740, + HGNC_symbol:ASCL3 ; biolink:category biolink:Gene . OMIM:609155 a owl:Class ; rdfs:label "ASCL4" ; IAO:0000142 PMID:15475265 ; - oboInOwl:hasDbXref UMLS:C1540208 ; oboInOwl:hasExactSynonym "ASCL4", "achaete-scute complex, drosophila, homolog of, 4", "achaete-scute family bhlh transcription factor 4", "human achaete-scute homolog 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121549 ; - skos:exactMatch HGNC_symbol:ASCL4 ; + skos:exactMatch UMLS:C1540208, + HGNC:24311, + HGNC_symbol:ASCL4 ; biolink:category biolink:Gene . OMIM:609156 a owl:Class ; rdfs:label "NCLN" ; IAO:0000142 PMID:15257293, PMID:20538592 ; - oboInOwl:hasDbXref UMLS:C1538049 ; oboInOwl:hasExactSynonym "NCLN", "nicalin", "nicalin, zebrafish, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56926 ; - skos:exactMatch HGNC_symbol:NCLN ; + skos:exactMatch UMLS:C1538049, + HGNC:26923, + HGNC_symbol:NCLN ; biolink:category biolink:Gene . OMIM:609157 a owl:Class ; rdfs:label "NOMO1" ; IAO:0000142 PMID:10493829, PMID:1310294 ; - oboInOwl:hasDbXref UMLS:C1538477 ; oboInOwl:hasExactSynonym "NOMO1", "nodal modulator 1", "pm5, telomeric copy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23420 ; - skos:exactMatch HGNC_symbol:NOMO1 ; + skos:exactMatch UMLS:C1538477, + HGNC:30060, + HGNC_symbol:NOMO1 ; biolink:category biolink:Gene . OMIM:609158 a owl:Class ; @@ -262063,25 +271981,27 @@ OMIM:609158 a owl:Class ; IAO:0000142 PMID:10493829, PMID:15257293, PMID:20538592 ; - oboInOwl:hasDbXref UMLS:C1538478 ; oboInOwl:hasExactSynonym "NOMO2", "nodal modulator 2", "pm5, centromeric copy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283820 ; - skos:exactMatch HGNC_symbol:NOMO2 ; + skos:exactMatch UMLS:C1538478, + HGNC:22652, + HGNC_symbol:NOMO2 ; biolink:category biolink:Gene . OMIM:609159 a owl:Class ; rdfs:label "NOMO3" ; IAO:0000142 PMID:10493829 ; - oboInOwl:hasDbXref UMLS:C1538479 ; oboInOwl:hasExactSynonym "NOMO3", "nodal modulator 3", "pm5, middle copy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:408050 ; - skos:exactMatch HGNC_symbol:NOMO3 ; + skos:exactMatch UMLS:C1538479, + HGNC:25242, + HGNC_symbol:NOMO3 ; biolink:category biolink:Gene . OMIM:609160 a owl:Class ; @@ -262099,11 +272019,11 @@ OMIM:609162 a owl:Class ; PMID:7738948, PMID:8024616, PMID:8244341 ; - oboInOwl:hasDbXref UMLS:C1836683 ; oboInOwl:hasExactSynonym "czech dysplasia", "czech dysplasia, metatarsal iia", "pseudorheumatoid dysplasia, progressive, with hypoplastic toes", "spondyloepiphyseal dysplasia with precocious osteoarthritis" ; + skos:exactMatch UMLS:C1836683 ; biolink:category biolink:Disease . OMIM:609163 a owl:Class ; @@ -262114,7 +272034,6 @@ OMIM:609163 a owl:Class ; PMID:15183629, PMID:15580557, PMID:24412617 ; - oboInOwl:hasDbXref UMLS:C1539603 ; oboInOwl:hasExactSynonym "HCAR2", "g protein-coupled receptor 109a", "hca2", @@ -262125,16 +272044,18 @@ OMIM:609163 a owl:Class ; "protein upregulated 1n macrophages by ifng, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338442 ; - skos:exactMatch HGNC_symbol:HCAR2 ; + skos:exactMatch UMLS:C1539603, + HGNC:24827, + HGNC_symbol:HCAR2 ; biolink:category biolink:Gene . OMIM:609164 a owl:Class ; rdfs:label "umbilicus, familial flat" ; IAO:0000142 PMID:15523632, PMID:8076412 ; - oboInOwl:hasDbXref UMLS:C1836682 ; oboInOwl:hasExactSynonym "flat umbilicus, autosomal dominant", "umbilicus, familial flat" ; + skos:exactMatch UMLS:C1836682 ; biolink:category biolink:Disease . OMIM:609165 a owl:Class ; @@ -262145,8 +272066,6 @@ OMIM:609165 a owl:Class ; PMID:6529087, PMID:8305756, PMID:9892962 ; - oboInOwl:hasDbXref UMLS:C1836681, - UMLS:C3665704 ; oboInOwl:hasExactSynonym "IWC", "aarau disease", "erythroderma, ichthyosiform, congenital reticular", @@ -262154,13 +272073,15 @@ OMIM:609165 a owl:Class ; "ichthyosis variegata micropinnae, alopecia universalis, congenital ichthyosis, and ectropion", "ichthyosis with confetti", "mauie syndrome" ; + skos:exactMatch UMLS:C1836681, + UMLS:C3665704 ; biolink:category biolink:Disease . OMIM:609166 a owl:Class ; rdfs:label "branchiogenic-deafness syndrome" ; IAO:0000142 PMID:12833414 ; - oboInOwl:hasDbXref UMLS:C1836673 ; oboInOwl:hasExactSynonym "branchiogenic-deafness syndrome" ; + skos:exactMatch UMLS:C1836673 ; biolink:category biolink:Disease . OMIM:609167 a owl:Class ; @@ -262181,13 +272102,14 @@ OMIM:609168 a owl:Class ; PMID:25282101 ; RO:0002525 CHR:9606chr3p24.3 ; RO:0003303 OMIM:616201 ; - oboInOwl:hasDbXref UMLS:C1428445 ; oboInOwl:hasExactSynonym "SGOL1", "sgo", "shugoshin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151648 ; - skos:exactMatch HGNC_symbol:SGO1 ; + skos:exactMatch UMLS:C1428445, + HGNC:25088, + HGNC_symbol:SGO1 ; biolink:category biolink:Gene . OMIM:609169 a owl:Class ; @@ -262196,7 +272118,6 @@ OMIM:609169 a owl:Class ; PMID:11857588, PMID:15507493, PMID:15546993 ; - oboInOwl:hasDbXref UMLS:C1428420 ; oboInOwl:hasExactSynonym "GAPDHS", "gapd2", "gapds", @@ -262204,7 +272125,9 @@ OMIM:609169 a owl:Class ; "glyceraldehyde-3-phosphate dehydrogenase, testis-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26330 ; - skos:exactMatch HGNC_symbol:GAPDHS ; + skos:exactMatch UMLS:C1428420, + HGNC:24864, + HGNC_symbol:GAPDHS ; biolink:category biolink:Gene . OMIM:609170 a owl:Class ; @@ -262212,41 +272135,44 @@ OMIM:609170 a owl:Class ; IAO:0000142 PMID:11847130, PMID:15652484, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1425439 ; oboInOwl:hasExactSynonym "TXNDC4", "endoplasmic reticulum resident protein, 44-kd", "kiaa0573", "thioredoxin domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23071 ; - skos:exactMatch HGNC_symbol:ERP44 ; + skos:exactMatch UMLS:C1425439, + HGNC:18311, + HGNC_symbol:ERP44 ; biolink:category biolink:Gene . OMIM:609171 a owl:Class ; rdfs:label "CDC42EP5" ; IAO:0000142 PMID:10490598, PMID:11035016 ; - oboInOwl:hasDbXref UMLS:C1424955 ; oboInOwl:hasExactSynonym "CDC42EP5", "binder of rho gtpases 3", "cdc42 effector protein 5", "cep5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148170 ; - skos:exactMatch HGNC_symbol:CDC42EP5 ; + skos:exactMatch UMLS:C1424955, + HGNC:17408, + HGNC_symbol:CDC42EP5 ; biolink:category biolink:Gene . OMIM:609172 a owl:Class ; rdfs:label "PPP1R16A" ; IAO:0000142 PMID:11336659, PMID:21712390 ; - oboInOwl:hasDbXref UMLS:C1423072 ; oboInOwl:hasExactSynonym "PPP1R16A", "myosin phosphatase target subunit 3", "protein phosphatase 1, regulatory subunit 16a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84988 ; - skos:exactMatch HGNC_symbol:PPP1R16A ; + skos:exactMatch UMLS:C1423072, + HGNC:14941, + HGNC_symbol:PPP1R16A ; biolink:category biolink:Gene . OMIM:609173 a owl:Class ; @@ -262263,8 +272189,6 @@ OMIM:609173 a owl:Class ; PMID:27149178 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:604321 ; - oboInOwl:hasDbXref UMLS:C1539063, - UMLS:C1834587 ; oboInOwl:hasExactSynonym "KNL1", "af15q14/all1 fusion gene", "all1-fused gene from chromosome 15q14", @@ -262274,33 +272198,38 @@ OMIM:609173 a owl:Class ; "kinetochore scaffold 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57082 ; - skos:exactMatch HGNC_symbol:KNL1 ; + skos:exactMatch UMLS:C1539063, + UMLS:C1834587, + HGNC:24054, + HGNC_symbol:KNL1 ; biolink:category biolink:Gene . OMIM:609174 a owl:Class ; rdfs:label "NSL1" ; IAO:0000142 PMID:15502821 ; - oboInOwl:hasDbXref UMLS:C1538987 ; oboInOwl:hasExactSynonym "NSL1", "chromosome 1 open reading frame 48", "dc8", "nsl1, mis12 kinetochore complex component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25936 ; - skos:exactMatch HGNC_symbol:NSL1 ; + skos:exactMatch UMLS:C1538987, + HGNC:24548, + HGNC_symbol:NSL1 ; biolink:category biolink:Gene . OMIM:609175 a owl:Class ; rdfs:label "DSN1" ; IAO:0000142 PMID:15502821 ; - oboInOwl:hasDbXref UMLS:C1824982 ; oboInOwl:hasExactSynonym "DSN1", "chromosome 20 open reading frame 172", "dsn1, mis12 kinetochore complex component", "dsn1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79980 ; - skos:exactMatch HGNC_symbol:DSN1 ; + skos:exactMatch UMLS:C1824982, + HGNC:16165, + HGNC_symbol:DSN1 ; biolink:category biolink:Gene . OMIM:609176 a owl:Class ; @@ -262309,12 +272238,13 @@ OMIM:609176 a owl:Class ; PMID:11256947, PMID:11583586, PMID:15502821 ; - oboInOwl:hasDbXref UMLS:C1418672 ; oboInOwl:hasExactSynonym "PMF1", "polyamine-modulated factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11243 ; - skos:exactMatch HGNC_symbol:PMF1 ; + skos:exactMatch UMLS:C1418672, + HGNC:9112, + HGNC_symbol:PMF1 ; biolink:category biolink:Gene . OMIM:609177 a owl:Class ; @@ -262322,39 +272252,42 @@ OMIM:609177 a owl:Class ; IAO:0000142 PMID:10806105, PMID:15094189, PMID:15502821 ; - oboInOwl:hasDbXref UMLS:C1421869 ; oboInOwl:hasExactSynonym "ZWINT", "zw10 interacting kinetochore protein", "zw10 interactor", "zwint1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11130 ; - skos:exactMatch HGNC_symbol:ZWINT ; + skos:exactMatch UMLS:C1421869, + HGNC:13195, + HGNC_symbol:ZWINT ; biolink:category biolink:Gene . OMIM:609178 a owl:Class ; rdfs:label "MIS12" ; IAO:0000142 PMID:12515822, PMID:15502821 ; - oboInOwl:hasDbXref UMLS:C1537921 ; oboInOwl:hasExactSynonym "MIS12", "mis12 kinetochore complex component", "mis12, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79003 ; - skos:exactMatch HGNC_symbol:MIS12 ; + skos:exactMatch UMLS:C1537921, + HGNC:24967, + HGNC_symbol:MIS12 ; biolink:category biolink:Gene . OMIM:609181 a owl:Class ; rdfs:label "DYRK4" ; IAO:0000142 PMID:15607427, PMID:9748265 ; - oboInOwl:hasDbXref UMLS:C1414208 ; oboInOwl:hasExactSynonym "DYRK4", "dual-specificity tyrosine phosphorylation-regulated kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8798 ; - skos:exactMatch HGNC_symbol:DYRK4 ; + skos:exactMatch UMLS:C1414208, + HGNC:3095, + HGNC_symbol:DYRK4 ; biolink:category biolink:Gene . OMIM:609182 a owl:Class ; @@ -262362,7 +272295,6 @@ OMIM:609182 a owl:Class ; IAO:0000142 PMID:15082721, PMID:15607426, PMID:9927678 ; - oboInOwl:hasDbXref UMLS:C1427132 ; oboInOwl:hasExactSynonym "SLC35D2", "fringe connection, drosophila, homolog of, 1", "solute carrier family 35, member d2", @@ -262370,31 +272302,35 @@ OMIM:609182 a owl:Class ; "ugtrel8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11046 ; - skos:exactMatch HGNC_symbol:SLC35D2 ; + skos:exactMatch UMLS:C1427132, + HGNC:20799, + HGNC_symbol:SLC35D2 ; biolink:category biolink:Gene . OMIM:609183 a owl:Class ; rdfs:label "AURKAIP1" ; IAO:0000142 PMID:12244051 ; - oboInOwl:hasDbXref UMLS:C1836668 ; oboInOwl:hasExactSynonym "AURKAIP1", "aurka-interacting protein", "aurora kinase a-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54998 ; - skos:exactMatch HGNC_symbol:AURKAIP1 ; + skos:exactMatch UMLS:C1836668, + HGNC:24114, + HGNC_symbol:AURKAIP1 ; biolink:category biolink:Gene . OMIM:609184 a owl:Class ; rdfs:label "KIF4B" ; IAO:0000142 PMID:10773663, PMID:10978527 ; - oboInOwl:hasDbXref UMLS:C1416637 ; oboInOwl:hasExactSynonym "KIF4B", "kinesin family member 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285643 ; - skos:exactMatch HGNC_symbol:KIF4B ; + skos:exactMatch UMLS:C1416637, + HGNC:6322, + HGNC_symbol:KIF4B ; biolink:category biolink:Gene . OMIM:609185 a owl:Class ; @@ -262405,7 +272341,6 @@ OMIM:609185 a owl:Class ; PMID:15626755, PMID:2436297, PMID:30026228 ; - oboInOwl:hasDbXref UMLS:C1425569 ; oboInOwl:hasExactSynonym "ZHX2", "afp regulator 1, mouse, homolog of", "alpha-fetoprotein regulator 1, mouse, homolog of", @@ -262414,7 +272349,9 @@ OMIM:609185 a owl:Class ; "zinc finger and homeodomain protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22882 ; - skos:exactMatch HGNC_symbol:ZHX2 ; + skos:exactMatch UMLS:C1425569, + HGNC:18513, + HGNC_symbol:ZHX2 ; biolink:category biolink:Gene . OMIM:609186 a owl:Class ; @@ -262427,13 +272364,14 @@ OMIM:609186 a owl:Class ; PMID:7609436 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:600721 ; - oboInOwl:hasDbXref UMLS:C1824880 ; oboInOwl:hasExactSynonym "D2HGDH", "d-2-hydroxyglutarate dehydrogenase", "d2hgd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728294 ; - skos:exactMatch HGNC_symbol:D2HGDH ; + skos:exactMatch UMLS:C1824880, + HGNC:28358, + HGNC_symbol:D2HGDH ; biolink:category biolink:Gene . OMIM:609187 a owl:Class ; @@ -262444,14 +272382,15 @@ OMIM:609187 a owl:Class ; PMID:1909402 ; RO:0002525 CHR:9606chr7p14.1 ; RO:0003303 OMIM:231690 ; - oboInOwl:hasDbXref UMLS:C0342873, - UMLS:C1423901 ; oboInOwl:hasExactSynonym "SUGCT", "chromosome 7 open reading frame 10", "succinyl-coa:glutarate-coa transferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79783 ; - skos:exactMatch HGNC_symbol:SUGCT ; + skos:exactMatch UMLS:C0342873, + UMLS:C1423901, + HGNC:16001, + HGNC_symbol:SUGCT ; biolink:category biolink:Gene . OMIM:609188 a owl:Class ; @@ -262466,15 +272405,16 @@ OMIM:609188 a owl:Class ; PMID:5645693 ; RO:0002525 CHR:9606chr7p14.1 ; RO:0003303 OMIM:234050 ; - oboInOwl:hasDbXref UMLS:C1313961, - UMLS:C1423902 ; oboInOwl:hasExactSynonym "MPLKIP", "chromosome 7 open reading frame 11", "m-phase-specific plk1-interacting protein", "ttdn1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136647 ; - skos:exactMatch HGNC_symbol:MPLKIP ; + skos:exactMatch UMLS:C1313961, + UMLS:C1423902, + HGNC:16002, + HGNC_symbol:MPLKIP ; biolink:category biolink:Gene . OMIM:609189 a owl:Class ; @@ -262487,14 +272427,15 @@ OMIM:609189 a owl:Class ; PMID:18096807, PMID:19270680, PMID:25035411 ; - oboInOwl:hasDbXref UMLS:C1427233 ; oboInOwl:hasExactSynonym "ASF1A", "anti-silencing function 1, s. cerevisiae, homolog of, a", "anti-silencing function 1a histone chaperone", "ccg1-interacting factor a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25842 ; - skos:exactMatch HGNC_symbol:ASF1A ; + skos:exactMatch UMLS:C1427233, + HGNC:20995, + HGNC_symbol:ASF1A ; biolink:category biolink:Gene . OMIM:609190 a owl:Class ; @@ -262502,20 +272443,20 @@ OMIM:609190 a owl:Class ; IAO:0000142 PMID:11470414, PMID:11897662, PMID:18096807 ; - oboInOwl:hasDbXref UMLS:C1427234 ; oboInOwl:hasExactSynonym "ASF1B", "anti-silencing function 1, s. cerevisiae, homolog of, B", "anti-silencing function 1b histone chaperone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55723 ; - skos:exactMatch HGNC_symbol:ASF1B ; + skos:exactMatch UMLS:C1427234, + HGNC:20996, + HGNC_symbol:ASF1B ; biolink:category biolink:Gene . OMIM:609191 a owl:Class ; rdfs:label "AKIP1" ; IAO:0000142 PMID:12527432, PMID:15630084 ; - oboInOwl:hasDbXref UMLS:C1412869 ; oboInOwl:hasExactSynonym "AKIP1", "breast cancer-associated gene 3", "chromosome 11 open reading frame 17", @@ -262523,19 +272464,22 @@ OMIM:609191 a owl:Class ; "protein kinase a-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56672 ; - skos:exactMatch HGNC_symbol:AKIP1 ; + skos:exactMatch UMLS:C1412869, + HGNC:1170, + HGNC_symbol:AKIP1 ; biolink:category biolink:Gene . OMIM:609193 a owl:Class ; rdfs:label "LRR1" ; IAO:0000142 PMID:11804328 ; - oboInOwl:hasDbXref UMLS:C1426378 ; oboInOwl:hasExactSynonym "LRR1", "leucine-rich repeat protein 1", "peptidyl-prolyl isomerase-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122769 ; - skos:exactMatch HGNC_symbol:LRR1 ; + skos:exactMatch UMLS:C1426378, + HGNC:19742, + HGNC_symbol:LRR1 ; biolink:category biolink:Gene . OMIM:609194 a owl:Class ; @@ -262545,7 +272489,6 @@ OMIM:609194 a owl:Class ; PMID:11585773, PMID:13679449, PMID:14729625 ; - oboInOwl:hasDbXref UMLS:C1428446 ; oboInOwl:hasExactSynonym "CABLES1", "cables", "cdk5 and abl enzyme substrate 1", @@ -262553,7 +272496,9 @@ OMIM:609194 a owl:Class ; "interactor with cdk3 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91768 ; - skos:exactMatch HGNC_symbol:CABLES1 ; + skos:exactMatch UMLS:C1428446, + HGNC:25097, + HGNC_symbol:CABLES1 ; biolink:category biolink:Gene . OMIM:609196 a owl:Class ; @@ -262565,42 +272510,45 @@ OMIM:609196 a owl:Class ; PMID:20371771 ; RO:0002525 CHR:9606chr21q22.11 ; RO:0003303 OMIM:607398 ; - oboInOwl:hasDbXref UMLS:C1537935 ; oboInOwl:hasExactSynonym "MRAP", "chromosome 21 open reading frame 61", "fat tissue-specific low molecular weight protein", "melanocortin 2 receptor accessory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56246 ; - skos:exactMatch HGNC_symbol:MRAP ; + skos:exactMatch UMLS:C1537935, + HGNC:1304, + HGNC_symbol:MRAP ; biolink:category biolink:Gene . OMIM:609198 a owl:Class ; rdfs:label "ADAMTSL1" ; IAO:0000142 PMID:11805097, PMID:14667842 ; - oboInOwl:hasDbXref UMLS:C1422803 ; oboInOwl:hasExactSynonym "ADAMTSL1", "adamts-like protein 1", "punctin", "punctin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92949 ; - skos:exactMatch HGNC_symbol:ADAMTSL1 ; + skos:exactMatch UMLS:C1422803, + HGNC:14632, + HGNC_symbol:ADAMTSL1 ; biolink:category biolink:Gene . OMIM:609199 a owl:Class ; rdfs:label "ADAMTSL3" ; IAO:0000142 PMID:10574462, PMID:14667842 ; - oboInOwl:hasDbXref UMLS:C1540186 ; oboInOwl:hasExactSynonym "ADAMTSL3", "adamts-like protein 3", "kiaa1233", "punctin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57188 ; - skos:exactMatch HGNC_symbol:ADAMTSL3 ; + skos:exactMatch UMLS:C1540186, + HGNC:14633, + HGNC_symbol:ADAMTSL3 ; biolink:category biolink:Gene . OMIM:609201 a owl:Class ; @@ -262611,7 +272559,6 @@ OMIM:609201 a owl:Class ; PMID:15159412, PMID:17679096, PMID:20585042 ; - oboInOwl:hasDbXref UMLS:C1836606 ; oboInOwl:hasExactSynonym "UBASH3B", "kiaa1959", "p70", @@ -262620,29 +272567,33 @@ OMIM:609201 a owl:Class ; "ubiquitin-associated and sh3 domain-containing protein B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84959 ; - skos:exactMatch HGNC_symbol:UBASH3B ; + skos:exactMatch UMLS:C1836606, + HGNC:29884, + HGNC_symbol:UBASH3B ; biolink:category biolink:Gene . OMIM:609202 a owl:Class ; rdfs:label "SCGN" ; IAO:0000142 PMID:10811645 ; - oboInOwl:hasDbXref UMLS:C1424652 ; oboInOwl:hasExactSynonym "SCGN", "secretagogin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10590 ; - skos:exactMatch HGNC_symbol:SCGN ; + skos:exactMatch UMLS:C1424652, + HGNC:16941, + HGNC_symbol:SCGN ; biolink:category biolink:Gene . OMIM:609203 a owl:Class ; rdfs:label "CLDN23" ; IAO:0000142 PMID:12736707 ; - oboInOwl:hasDbXref UMLS:C1539084 ; oboInOwl:hasExactSynonym "CLDN23", "claudin 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137075 ; - skos:exactMatch HGNC_symbol:CLDN23 ; + skos:exactMatch UMLS:C1539084, + HGNC:17591, + HGNC_symbol:CLDN23 ; biolink:category biolink:Gene . OMIM:609204 a owl:Class ; @@ -262652,11 +272603,12 @@ OMIM:609204 a owl:Class ; PMID:15505824 ; RO:0002525 CHR:9606chr10q22.2 ; RO:0003303 OMIM:610498 ; - oboInOwl:hasDbXref UMLS:C1422372 ; oboInOwl:hasExactSynonym "mitochondrial ribosomal protein s16: mrps16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51021 ; - skos:exactMatch HGNC_symbol:MRPS16 ; + skos:exactMatch UMLS:C1422372, + HGNC:14048, + HGNC_symbol:MRPS16 ; biolink:category biolink:Gene . OMIM:609205 a owl:Class ; @@ -262670,14 +272622,15 @@ OMIM:609205 a owl:Class ; PMID:15386433, PMID:15817459, PMID:20154697 ; - oboInOwl:hasDbXref UMLS:C1424881 ; oboInOwl:hasExactSynonym "DAB2IP", "ask1-interacting protein", "dab2-interacting protein", "kiaa1743" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153090 ; - skos:exactMatch HGNC_symbol:DAB2IP ; + skos:exactMatch UMLS:C1424881, + HGNC:17294, + HGNC_symbol:DAB2IP ; biolink:category biolink:Gene . OMIM:609206 a owl:Class ; @@ -262686,34 +272639,35 @@ OMIM:609206 a owl:Class ; PMID:20726853, PMID:22867704, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1414293 ; oboInOwl:hasExactSynonym "EEF1E1", "aminoacyl-trna synthetase-interacting multifunctional protein 3", "elongation factor p18", "eukaryotic translation elongation factor 1, epsilon-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9521 ; - skos:exactMatch HGNC_symbol:EEF1E1 ; + skos:exactMatch UMLS:C1414293, + HGNC:3212, + HGNC_symbol:EEF1E1 ; biolink:category biolink:Gene . OMIM:609207 a owl:Class ; rdfs:label "MREG" ; IAO:0000142 PMID:15550542 ; - oboInOwl:hasDbXref UMLS:C1826278 ; oboInOwl:hasExactSynonym "MREG", "dilute suppressor, mouse, homolog of", "dsu, mouse, homolog of", "melanoregulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55686 ; - skos:exactMatch HGNC_symbol:MREG ; + skos:exactMatch UMLS:C1826278, + HGNC:25478, + HGNC_symbol:MREG ; biolink:category biolink:Gene . OMIM:609208 a owl:Class ; rdfs:label "KAZALD1" ; IAO:0000142 PMID:15261838, PMID:15555553 ; - oboInOwl:hasDbXref UMLS:C1537434 ; oboInOwl:hasExactSynonym "KAZALD1", "bone- and odontoblast-expressed gene 1", "igfbp-related protein 10", @@ -262721,7 +272675,9 @@ OMIM:609208 a owl:Class ; "kazal-type serine peptidase inhibitor domain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81621 ; - skos:exactMatch HGNC_symbol:KAZALD1 ; + skos:exactMatch UMLS:C1537434, + HGNC:25460, + HGNC_symbol:KAZALD1 ; biolink:category biolink:Gene . OMIM:609209 a owl:Class ; @@ -262732,8 +272688,6 @@ OMIM:609209 a owl:Class ; PMID:9696811 ; RO:0002525 CHR:9606chr1q25.3 ; RO:0003303 OMIM:618969 ; - oboInOwl:hasDbXref UMLS:C1424660, - UMLS:C5436501 ; oboInOwl:hasExactSynonym "IVNS1ABP", "influenza virus ns1a-binding protein", "kiaa0850", @@ -262741,38 +272695,42 @@ OMIM:609209 a owl:Class ; "ns1-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10625 ; - skos:exactMatch HGNC_symbol:IVNS1ABP ; + skos:exactMatch UMLS:C1424660, + UMLS:C5436501, + HGNC:16951, + HGNC_symbol:IVNS1ABP ; biolink:category biolink:Gene . OMIM:609210 a owl:Class ; rdfs:label "CLDN18" ; IAO:0000142 PMID:11585919 ; - oboInOwl:hasDbXref UMLS:C1413467 ; oboInOwl:hasExactSynonym "CLDN18", "claudin 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51208 ; - skos:exactMatch HGNC_symbol:CLDN18 ; + skos:exactMatch UMLS:C1413467, + HGNC:2039, + HGNC_symbol:CLDN18 ; biolink:category biolink:Gene . OMIM:609211 a owl:Class ; rdfs:label "MYL12B" ; IAO:0000142 PMID:11942626, PMID:2216787 ; - oboInOwl:hasDbXref UMLS:C1836604 ; oboInOwl:hasExactSynonym "MYL12B", "myosin regulatory light chain 2", "myosin, light chain 12b, regulatory" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:103910 ; - skos:exactMatch HGNC_symbol:MYL12B ; + skos:exactMatch UMLS:C1836604, + HGNC:29827, + HGNC_symbol:MYL12B ; biolink:category biolink:Gene . OMIM:609212 a owl:Class ; rdfs:label "ASRGL1" ; IAO:0000142 PMID:11984834, PMID:22861376 ; - oboInOwl:hasDbXref UMLS:C1424288 ; oboInOwl:hasExactSynonym "ASRGL1", "alp", "asnase3", @@ -262780,7 +272738,9 @@ OMIM:609212 a owl:Class ; "asparaginase-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80150 ; - skos:exactMatch HGNC_symbol:ASRGL1 ; + skos:exactMatch UMLS:C1424288, + HGNC:16448, + HGNC_symbol:ASRGL1 ; biolink:category biolink:Gene . OMIM:609213 a owl:Class ; @@ -262799,7 +272759,6 @@ OMIM:609213 a owl:Class ; PMID:9792704 ; RO:0002525 CHR:9606chr3q21.3 ; RO:0003303 OMIM:617056 ; - oboInOwl:hasDbXref UMLS:C1425414 ; oboInOwl:hasExactSynonym "SEC61A1", "sec61 complex, alpha-1 subunit", "sec61 translocon, alpha-1 subunit", @@ -262807,7 +272766,9 @@ OMIM:609213 a owl:Class ; "sec61a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29927 ; - skos:exactMatch HGNC_symbol:SEC61A1 ; + skos:exactMatch UMLS:C1425414, + HGNC:18276, + HGNC_symbol:SEC61A1 ; biolink:category biolink:Gene . OMIM:609214 a owl:Class ; @@ -262820,13 +272781,14 @@ OMIM:609214 a owl:Class ; PMID:8945469, PMID:9565615, PMID:9792704 ; - oboInOwl:hasDbXref UMLS:C1424679 ; oboInOwl:hasExactSynonym "SEC61B", "sec61 complex, beta subunit", "sec61 translocon, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10952 ; - skos:exactMatch HGNC_symbol:SEC61B ; + skos:exactMatch UMLS:C1424679, + HGNC:16993, + HGNC_symbol:SEC61B ; biolink:category biolink:Gene . OMIM:609215 a owl:Class ; @@ -262834,13 +272796,14 @@ OMIM:609215 a owl:Class ; IAO:0000142 PMID:10212142, PMID:11042152, PMID:8107851 ; - oboInOwl:hasDbXref UMLS:C1425415 ; oboInOwl:hasExactSynonym "SEC61G", "sec61 complex, gamma subunit", "sec61 translocon, gamma subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23480 ; - skos:exactMatch HGNC_symbol:SEC61G ; + skos:exactMatch UMLS:C1425415, + HGNC:18277, + HGNC_symbol:SEC61G ; biolink:category biolink:Gene . OMIM:609216 a owl:Class ; @@ -262848,7 +272811,6 @@ OMIM:609216 a owl:Class ; IAO:0000142 PMID:10574461, PMID:11747823, PMID:15674283 ; - oboInOwl:hasDbXref UMLS:C1539844 ; oboInOwl:hasExactSynonym "SPIRE1", "kiaa1135", "spir1", @@ -262856,13 +272818,14 @@ OMIM:609216 a owl:Class ; "spire-type actin nucleation factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56907 ; - skos:exactMatch HGNC_symbol:SPIRE1 ; + skos:exactMatch UMLS:C1539844, + HGNC:30622, + HGNC_symbol:SPIRE1 ; biolink:category biolink:Gene . OMIM:609217 a owl:Class ; rdfs:label "SPIRE2" ; IAO:0000142 PMID:11347906 ; - oboInOwl:hasDbXref UMLS:C1539845 ; oboInOwl:hasExactSynonym "SPIRE2", "kiaa1832", "spir2", @@ -262870,13 +272833,14 @@ OMIM:609217 a owl:Class ; "spire-type actin nucleation factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84501 ; - skos:exactMatch HGNC_symbol:SPIRE2 ; + skos:exactMatch UMLS:C1539845, + HGNC:30623, + HGNC_symbol:SPIRE2 ; biolink:category biolink:Gene . OMIM:609219 a owl:Class ; rdfs:label "NUDT14" ; IAO:0000142 PMID:12429023 ; - oboInOwl:hasDbXref UMLS:C1426725 ; oboInOwl:hasExactSynonym "NUDT14", "nucleoside diphosphate-linked moiety 10 motif 14", "nudix hydrolase 14", @@ -262886,7 +272850,9 @@ OMIM:609219 a owl:Class ; "uridine diphosphate glucose pyrophosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256281 ; - skos:exactMatch HGNC_symbol:NUDT14 ; + skos:exactMatch UMLS:C1426725, + HGNC:20141, + HGNC_symbol:NUDT14 ; biolink:category biolink:Gene . OMIM:609221 a owl:Class ; @@ -262897,7 +272863,6 @@ OMIM:609221 a owl:Class ; PMID:24786082, PMID:25411247, PMID:25653167 ; - oboInOwl:hasDbXref UMLS:C1826354 ; oboInOwl:hasExactSynonym "NAT10", "kiaa1709", "kre33, yeast, homolog of", @@ -262906,7 +272871,9 @@ OMIM:609221 a owl:Class ; "ribosomal RNA cytidine acetyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55226 ; - skos:exactMatch HGNC_symbol:NAT10 ; + skos:exactMatch UMLS:C1826354, + HGNC:29830, + HGNC_symbol:NAT10 ; biolink:category biolink:Gene . OMIM:609222 a owl:Class ; @@ -262917,29 +272884,30 @@ OMIM:609222 a owl:Class ; PMID:22124012, PMID:23674478, PMID:9309791 ; - oboInOwl:hasDbXref UMLS:C2674987 ; oboInOwl:hasExactSynonym "ADDWOC", "dandy-walker malformation with occipital cephalocele, autosomal dominant" ; + skos:exactMatch UMLS:C2674987 ; biolink:category biolink:Disease . OMIM:609223 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger iia" ; IAO:0000142 PMID:14755466 ; - oboInOwl:hasDbXref UMLS:C1836584 ; oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger iia" ; + skos:exactMatch UMLS:C1836584 ; biolink:category biolink:Disease . OMIM:609224 a owl:Class ; rdfs:label "WIPI1" ; IAO:0000142 PMID:15020712, PMID:15602573 ; - oboInOwl:hasDbXref UMLS:C1836583 ; oboInOwl:hasExactSynonym "WIPI1", "wd40 repeat protein interacting with phosphoinositides 1", "wipi, 49-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55062 ; - skos:exactMatch HGNC_symbol:WIPI1 ; + skos:exactMatch UMLS:C1836583, + HGNC:25471, + HGNC_symbol:WIPI1 ; biolink:category biolink:Gene . OMIM:609225 a owl:Class ; @@ -262948,12 +272916,13 @@ OMIM:609225 a owl:Class ; PMID:30968111 ; RO:0002525 CHR:9606chr7p22.1 ; RO:0003303 OMIM:618453 ; - oboInOwl:hasDbXref UMLS:C1823860 ; oboInOwl:hasExactSynonym "WIPI2", "wd40 repeat protein interacting with phosphoinositides 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26100 ; - skos:exactMatch HGNC_symbol:WIPI2 ; + skos:exactMatch UMLS:C1823860, + HGNC:32225, + HGNC_symbol:WIPI2 ; biolink:category biolink:Gene . OMIM:609226 a owl:Class ; @@ -262964,21 +272933,21 @@ OMIM:609226 a owl:Class ; PMID:28503735 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:617977 ; - oboInOwl:hasDbXref UMLS:C1538089 ; oboInOwl:hasExactSynonym "WDR45B", "wd repeat-containing protein 45-like", "wd repeat-containing protein 45b", "wd40 repeat protein interacting with phosphoinositides 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56270 ; - skos:exactMatch HGNC_symbol:WDR45B ; + skos:exactMatch UMLS:C1538089, + HGNC:25072, + HGNC_symbol:WDR45B ; biolink:category biolink:Gene . OMIM:609228 a owl:Class ; rdfs:label "NUDT3" ; IAO:0000142 PMID:10419486, PMID:9822604 ; - oboInOwl:hasDbXref UMLS:C1417881 ; oboInOwl:hasExactSynonym "NUDT3", "diphosphoinositol polyphosphate phosphohydrolase", "dipp1", @@ -262987,14 +272956,15 @@ OMIM:609228 a owl:Class ; "nudix motif 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11165 ; - skos:exactMatch HGNC_symbol:NUDT3 ; + skos:exactMatch UMLS:C1417881, + HGNC:8050, + HGNC_symbol:NUDT3 ; biolink:category biolink:Gene . OMIM:609229 a owl:Class ; rdfs:label "NUDT4" ; IAO:0000142 PMID:10777568, PMID:11376937 ; - oboInOwl:hasDbXref UMLS:C1417882 ; oboInOwl:hasExactSynonym "NUDT4", "diphosphoinositol polyphosphate phosphohydrolase 2", "kiaa0487", @@ -263003,7 +272973,9 @@ OMIM:609229 a owl:Class ; "nudix motif 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11163 ; - skos:exactMatch HGNC_symbol:NUDT4 ; + skos:exactMatch UMLS:C1417882, + HGNC:8051, + HGNC_symbol:NUDT4 ; biolink:category biolink:Gene . OMIM:609230 a owl:Class ; @@ -263012,7 +272984,6 @@ OMIM:609230 a owl:Class ; PMID:10567213, PMID:10722730, PMID:27257257 ; - oboInOwl:hasDbXref UMLS:C1417883 ; oboInOwl:hasExactSynonym "NUDT5", "nucleoside diphosphate-linked moiety 10 motif 5", "nudix hydrolase 5", @@ -263020,46 +272991,51 @@ OMIM:609230 a owl:Class ; "ysa1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11164 ; - skos:exactMatch HGNC_symbol:NUDT5 ; + skos:exactMatch UMLS:C1417883, + HGNC:8052, + HGNC_symbol:NUDT5 ; biolink:category biolink:Gene . OMIM:609231 a owl:Class ; rdfs:label "NUDT7" ; IAO:0000142 PMID:11415433 ; - oboInOwl:hasDbXref UMLS:C1417885 ; oboInOwl:hasExactSynonym "NUDT7", "nucleoside diphosphate-linked moiety 10 motif 7", "nudix hydrolase 7", "nudix motif 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283927 ; - skos:exactMatch HGNC_symbol:NUDT7 ; + skos:exactMatch UMLS:C1417885, + HGNC:8054, + HGNC_symbol:NUDT7 ; biolink:category biolink:Gene . OMIM:609232 a owl:Class ; rdfs:label "NUDT12" ; IAO:0000142 PMID:12790796 ; - oboInOwl:hasDbXref UMLS:C1425804 ; oboInOwl:hasExactSynonym "NUDT12", "nucleoside diphosphate-linked moiety 10 motif 12", "nudix hydrolase 12", "nudix motif 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83594 ; - skos:exactMatch HGNC_symbol:NUDT12 ; + skos:exactMatch UMLS:C1425804, + HGNC:18826, + HGNC_symbol:NUDT12 ; biolink:category biolink:Gene . OMIM:609233 a owl:Class ; rdfs:label "NUDT13" ; IAO:0000142 PMID:12790796 ; - oboInOwl:hasDbXref UMLS:C1425805 ; oboInOwl:hasExactSynonym "NUDT13", "nucleoside diphosphate-linked moiety 10 motif 13", "nudix hydrolase 13", "nudix motif 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25961 ; - skos:exactMatch HGNC_symbol:NUDT13 ; + skos:exactMatch UMLS:C1425805, + HGNC:18827, + HGNC_symbol:NUDT13 ; biolink:category biolink:Gene . OMIM:609234 a owl:Class ; @@ -263069,25 +273045,27 @@ OMIM:609234 a owl:Class ; PMID:22745432, PMID:25858979, PMID:33029011 ; - oboInOwl:hasDbXref UMLS:C1825044 ; oboInOwl:hasExactSynonym "EIF2A", "eukaryotic translation initiation factor 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83939 ; - skos:exactMatch HGNC_symbol:EIF2A ; + skos:exactMatch UMLS:C1825044, + HGNC:3254, + HGNC_symbol:EIF2A ; biolink:category biolink:Gene . OMIM:609235 a owl:Class ; rdfs:label "BRSK1" ; IAO:0000142 PMID:11347906, PMID:15705853 ; - oboInOwl:hasDbXref UMLS:C1538963 ; oboInOwl:hasExactSynonym "BRSK1", "br serine/threonine kinase 1", "kiaa1811" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84446 ; - skos:exactMatch HGNC_symbol:BRSK1 ; + skos:exactMatch UMLS:C1538963, + HGNC:18994, + HGNC_symbol:BRSK1 ; biolink:category biolink:Gene . OMIM:609236 a owl:Class ; @@ -263096,14 +273074,15 @@ OMIM:609236 a owl:Class ; PMID:15705853, PMID:9852686, PMID:9929968 ; - oboInOwl:hasDbXref UMLS:C1538964 ; oboInOwl:hasExactSynonym "BRSK2", "br serine/threonine kinase 2", "pen11b", "sad1, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9024 ; - skos:exactMatch HGNC_symbol:BRSK2 ; + skos:exactMatch UMLS:C1538964, + HGNC:11405, + HGNC_symbol:BRSK2 ; biolink:category biolink:Gene . OMIM:609237 a owl:Class ; @@ -263116,7 +273095,6 @@ OMIM:609237 a owl:Class ; PMID:7584026 ; RO:0002525 CHR:9606chr3q13.33 ; RO:0003303 OMIM:609254 ; - oboInOwl:hasDbXref UMLS:C1428754 ; oboInOwl:hasExactSynonym "IQCB1", "iq motif-containing protein b1", "kiaa0036", @@ -263124,7 +273102,9 @@ OMIM:609237 a owl:Class ; "p53- and DNA damage-regulated 1q motif protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9657 ; - skos:exactMatch HGNC_symbol:IQCB1 ; + skos:exactMatch UMLS:C1428754, + HGNC:28949, + HGNC_symbol:IQCB1 ; biolink:category biolink:Gene . OMIM:609238 a owl:Class ; @@ -263134,14 +273114,15 @@ OMIM:609238 a owl:Class ; PMID:15367492, PMID:9455477, PMID:9455484 ; - oboInOwl:hasDbXref UMLS:C1538773 ; oboInOwl:hasExactSynonym "RABGAP1L", "kiaa0471", "rab gtpase-activating protein 1-like", "tbc1 domain family, member 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9910 ; - skos:exactMatch HGNC_symbol:RABGAP1L ; + skos:exactMatch UMLS:C1538773, + HGNC:24663, + HGNC_symbol:RABGAP1L ; biolink:category biolink:Gene . OMIM:609239 a owl:Class ; @@ -263156,14 +273137,15 @@ OMIM:609239 a owl:Class ; PMID:8889552 ; RO:0002525 CHR:9606chr13q14.2 ; RO:0003303 OMIM:278150 ; - oboInOwl:hasDbXref UMLS:C1423550 ; oboInOwl:hasExactSynonym "LPAR6", "lysophosphatidic acid receptor 6", "p2ry5", "purinergic receptor p2y, g protein-coupled, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10161 ; - skos:exactMatch HGNC_symbol:LPAR6 ; + skos:exactMatch UMLS:C1423550, + HGNC:15520, + HGNC_symbol:LPAR6 ; biolink:category biolink:Gene . OMIM:609240 a owl:Class ; @@ -263173,14 +273155,15 @@ OMIM:609240 a owl:Class ; PMID:15681610, PMID:20705812, PMID:20929775 ; - oboInOwl:hasDbXref UMLS:C1539621 ; oboInOwl:hasExactSynonym "HASPIN", "germ cell-specific gene 2", "haploid germ cell-specific nuclear protein kinase", "histone h3-associated protein kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83903 ; - skos:exactMatch HGNC_symbol:HASPIN ; + skos:exactMatch UMLS:C1539621, + HGNC:19682, + HGNC_symbol:HASPIN ; biolink:category biolink:Gene . OMIM:609242 a owl:Class ; @@ -263193,12 +273176,12 @@ OMIM:609242 a owl:Class ; PMID:8040340, PMID:8466216, PMID:8782044 ; - oboInOwl:hasDbXref UMLS:C1836522 ; oboInOwl:hasExactSynonym "alpha-n-acetylgalactosaminidase deficiency, iia 2", "alpha-n-acetylgalactosaminidase deficiency, adult-onset", "kanzaki disease", "naga deficiency, iia 2", "schindler disease, iia 2" ; + skos:exactMatch UMLS:C1836522 ; biolink:category biolink:Disease . OMIM:609243 a owl:Class ; @@ -263210,14 +273193,15 @@ OMIM:609243 a owl:Class ; PMID:15240696, PMID:17470428, PMID:19688209 ; - oboInOwl:hasDbXref UMLS:C1424552 ; oboInOwl:hasExactSynonym "RAET1E", "lymphocyte effector cell toxicity-activating ligand", "retinoic acid early transcript 1e", "ul16-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135250 ; - skos:exactMatch HGNC_symbol:RAET1E ; + skos:exactMatch UMLS:C1424552, + HGNC:16793, + HGNC_symbol:RAET1E ; biolink:category biolink:Gene . OMIM:609244 a owl:Class ; @@ -263225,12 +273209,13 @@ OMIM:609244 a owl:Class ; IAO:0000142 PMID:11827464, PMID:15240696, PMID:19688209 ; - oboInOwl:hasDbXref UMLS:C1424554 ; oboInOwl:hasExactSynonym "RAET1G", "retinoic acid early transcript 1g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353091 ; - skos:exactMatch HGNC_symbol:RAET1G ; + skos:exactMatch UMLS:C1424554, + HGNC:16795, + HGNC_symbol:RAET1G ; biolink:category biolink:Gene . OMIM:609245 a owl:Class ; @@ -263246,7 +273231,6 @@ OMIM:609245 a owl:Class ; PMID:8973305 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:604213 ; - oboInOwl:hasDbXref UMLS:C1428865 ; oboInOwl:hasExactSynonym "GPSM2", "g protein signaling modulator 2", "leu-gly-asn repeat-enriched protein", @@ -263254,7 +273238,9 @@ OMIM:609245 a owl:Class ; "transducin-binding partner, rod-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29899 ; - skos:exactMatch HGNC_symbol:GPSM2 ; + skos:exactMatch UMLS:C1428865, + HGNC:29501, + HGNC_symbol:GPSM2 ; biolink:category biolink:Gene . OMIM:609246 a owl:Class ; @@ -263262,8 +273248,6 @@ OMIM:609246 a owl:Class ; IAO:0000142 PMID:14522954, PMID:15580268, PMID:23223568 ; - oboInOwl:hasDbXref UMLS:C1428948, - UMLS:C4479710 ; oboInOwl:hasExactSynonym "PDXP", "chronophin", "pdxp/sh3bp1 fusion gene", @@ -263271,7 +273255,10 @@ OMIM:609246 a owl:Class ; "pyridoxal phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57026 ; - skos:exactMatch HGNC_symbol:PDXP ; + skos:exactMatch UMLS:C1428948, + UMLS:C4479710, + HGNC:30259, + HGNC_symbol:PDXP ; biolink:category biolink:Gene . OMIM:609247 a owl:Class ; @@ -263280,50 +273267,52 @@ OMIM:609247 a owl:Class ; PMID:8610176 ; RO:0002525 CHR:9606chr3q25.1 ; RO:0003303 OMIM:618379 ; - oboInOwl:hasDbXref UMLS:C1419415, - UMLS:C5193065 ; oboInOwl:hasExactSynonym "RNF13", "ring finger protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11342 ; - skos:exactMatch HGNC_symbol:RNF13 ; + skos:exactMatch UMLS:C1419415, + UMLS:C5193065, + HGNC:10057, + HGNC_symbol:RNF13 ; biolink:category biolink:Gene . OMIM:609248 a owl:Class ; rdfs:label "HERC4" ; IAO:0000142 PMID:10997877, PMID:15676274 ; - oboInOwl:hasDbXref UMLS:C1539664 ; oboInOwl:hasExactSynonym "HERC4", "hect domain and rcc1-like domain 4", "kiaa1593" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26091 ; - skos:exactMatch HGNC_symbol:HERC4 ; + skos:exactMatch UMLS:C1539664, + HGNC:24521, + HGNC_symbol:HERC4 ; biolink:category biolink:Gene . OMIM:609249 a owl:Class ; rdfs:label "HERC6" ; IAO:0000142 PMID:15676274 ; - oboInOwl:hasDbXref UMLS:C1539665 ; oboInOwl:hasExactSynonym "HERC6", "hect domain and rcc1-like domain 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55008 ; - skos:exactMatch HGNC_symbol:HERC6 ; + skos:exactMatch UMLS:C1539665, + HGNC:26072, + HGNC_symbol:HERC6 ; biolink:category biolink:Gene . OMIM:609250 a owl:Class ; rdfs:label "hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate" ; IAO:0000142 PMID:12895008 ; - oboInOwl:hasDbXref UMLS:C1836521 ; oboInOwl:hasExactSynonym "hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate", - "marie unna-like scalp hypotrichosis" . + "marie unna-like scalp hypotrichosis" ; + skos:exactMatch UMLS:C1836521 . OMIM:609251 a owl:Class ; rdfs:label "FCRLB" ; IAO:0000142 PMID:15676285 ; - oboInOwl:hasDbXref UMLS:C1825287 ; oboInOwl:hasExactSynonym "FCRLB", "fc receptor homolog expressed 1n B cells 2", "fc receptor-like protein 2", @@ -263331,20 +273320,23 @@ OMIM:609251 a owl:Class ; "fcry" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127943 ; - skos:exactMatch HGNC_symbol:FCRLB ; + skos:exactMatch UMLS:C1825287, + HGNC:26431, + HGNC_symbol:FCRLB ; biolink:category biolink:Gene . OMIM:609252 a owl:Class ; rdfs:label "LIPI" ; IAO:0000142 PMID:12719377 ; - oboInOwl:hasDbXref UMLS:C1425800 ; oboInOwl:hasExactSynonym "LIPI", "lipase 1", "lpd lipase", "pred5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149998 ; - skos:exactMatch HGNC_symbol:LIPI ; + skos:exactMatch UMLS:C1425800, + HGNC:18821, + HGNC_symbol:LIPI ; biolink:category biolink:Gene . OMIM:609260 a owl:Class ; @@ -263370,9 +273362,6 @@ OMIM:609260 a owl:Class ; PMID:30649465, PMID:8406488, PMID:9409358 ; - oboInOwl:hasDbXref UMLS:C1836485, - UMLS:C4721887, - ORPHA:99947 ; oboInOwl:hasExactSynonym "CMT2A2A", "charcot-marie-tooth disease, axonal, iia 2a2", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a", @@ -263381,6 +273370,9 @@ OMIM:609260 a owl:Class ; "hereditary motor and sensory neuropathy iia2", "hmsn iia2" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1836485, + UMLS:C4721887, + ORPHA:99947 ; biolink:category biolink:Disease . OMIM:609262 a owl:Class ; @@ -263398,12 +273390,13 @@ OMIM:609262 a owl:Class ; PMID:28143899 ; RO:0002525 CHR:9606chr3p26.2 ; RO:0003303 OMIM:607417 ; - oboInOwl:hasDbXref UMLS:C1539136 ; oboInOwl:hasExactSynonym "CRBN", "cereblon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51185 ; - skos:exactMatch HGNC_symbol:CRBN ; + skos:exactMatch UMLS:C1539136, + HGNC:30185, + HGNC_symbol:CRBN ; biolink:category biolink:Gene . OMIM:609263 a owl:Class ; @@ -263413,14 +273406,15 @@ OMIM:609263 a owl:Class ; PMID:17363900, PMID:18974315, PMID:23723238 ; - oboInOwl:hasDbXref UMLS:C1539744 ; oboInOwl:hasExactSynonym "SEH1L", "sec13-like protein", "seh1, yeast, homolog of", "seh1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81929 ; - skos:exactMatch HGNC_symbol:SEH1L ; + skos:exactMatch UMLS:C1539744, + HGNC:30379, + HGNC_symbol:SEH1L ; biolink:category biolink:Gene . OMIM:609264 a owl:Class ; @@ -263431,23 +273425,24 @@ OMIM:609264 a owl:Class ; PMID:30179222 ; RO:0002525 CHR:9606chr12q23.2 ; RO:0003303 OMIM:618179 ; - oboInOwl:hasDbXref UMLS:C1428909 ; oboInOwl:hasExactSynonym "NUP37", "nucleoporin, 37-kd", "p37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79023 ; - skos:exactMatch HGNC_symbol:NUP37 ; + skos:exactMatch UMLS:C1428909, + HGNC:29929, + HGNC_symbol:NUP37 ; biolink:category biolink:Gene . OMIM:609265 a owl:Class ; rdfs:label "li-fraumeni syndrome 2" ; IAO:0000142 PMID:10617473, PMID:11479205 ; - oboInOwl:hasDbXref UMLS:C1836482 ; oboInOwl:hasExactSynonym "LFS2", "li-fraumeni syndrome 2" ; rdfs:subClassOf OMIMPS:151623 ; + skos:exactMatch UMLS:C1836482 ; biolink:category biolink:Disease . OMIM:609266 a owl:Class ; @@ -263457,12 +273452,13 @@ OMIM:609266 a owl:Class ; OMIM:609267 a owl:Class ; rdfs:label "MAGEF1" ; IAO:0000142 PMID:11313144 ; - oboInOwl:hasDbXref UMLS:C1537642 ; oboInOwl:hasExactSynonym "MAGEF1", "melanoma antigen, family f, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64110 ; - skos:exactMatch HGNC_symbol:MAGEF1 ; + skos:exactMatch UMLS:C1537642, + HGNC:29639, + HGNC_symbol:MAGEF1 ; biolink:category biolink:Gene . OMIM:609268 a owl:Class ; @@ -263471,7 +273467,6 @@ OMIM:609268 a owl:Class ; PMID:11991645, PMID:12043562, PMID:12183448 ; - oboInOwl:hasDbXref UMLS:C1425153 ; oboInOwl:hasExactSynonym "SREK1", "splicing factor, arginine/serine-rich, 12", "splicing regulatory protein, glutamine/lysine-rich, 1", @@ -263479,7 +273474,9 @@ OMIM:609268 a owl:Class ; "srrp508" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140890 ; - skos:exactMatch HGNC_symbol:SREK1 ; + skos:exactMatch UMLS:C1425153, + HGNC:17882, + HGNC_symbol:SREK1 ; biolink:category biolink:Gene . OMIM:609269 a owl:Class ; @@ -263492,12 +273489,13 @@ OMIM:609269 a owl:Class ; PMID:19419997, PMID:20943657, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1427627 ; oboInOwl:hasExactSynonym "KIAA0319", "kiaa0319 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9856 ; - skos:exactMatch HGNC_symbol:KIAA0319 ; + skos:exactMatch UMLS:C1427627, + HGNC:21580, + HGNC_symbol:KIAA0319 ; biolink:category biolink:Gene . OMIM:609272 a owl:Class ; @@ -263505,7 +273503,6 @@ OMIM:609272 a owl:Class ; IAO:0000142 PMID:10843716, PMID:12391231, PMID:9920877 ; - oboInOwl:hasDbXref UMLS:C1422416 ; oboInOwl:hasExactSynonym "TPSD1", "mast cell protease 7-like", "mcp7-like", @@ -263513,18 +273510,21 @@ OMIM:609272 a owl:Class ; "tryptase, delta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23430 ; - skos:exactMatch HGNC_symbol:TPSD1 ; + skos:exactMatch UMLS:C1422416, + HGNC:14118, + HGNC_symbol:TPSD1 ; biolink:category biolink:Gene . OMIM:609274 a owl:Class ; rdfs:label "NACA2" ; IAO:0000142 PMID:12406326 ; - oboInOwl:hasDbXref UMLS:C1538032 ; oboInOwl:hasExactSynonym "NACA2", "nascent polypeptide-associated complex, alpha polypeptide, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342538 ; - skos:exactMatch HGNC_symbol:NACA2 ; + skos:exactMatch UMLS:C1538032, + HGNC:23290, + HGNC_symbol:NACA2 ; biolink:category biolink:Gene . OMIM:609275 a owl:Class ; @@ -263536,7 +273536,6 @@ OMIM:609275 a owl:Class ; PMID:9733780 ; RO:0002525 CHR:9606chr1q41 ; RO:0003303 OMIM:614225 ; - oboInOwl:hasDbXref UMLS:C1826757 ; oboInOwl:hasExactSynonym "RAB3GAP2", "kiaa0839", "p150", @@ -263544,7 +273543,9 @@ OMIM:609275 a owl:Class ; "rab3gap, 150-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25782 ; - skos:exactMatch HGNC_symbol:RAB3GAP2 ; + skos:exactMatch UMLS:C1826757, + HGNC:17168, + HGNC_symbol:RAB3GAP2 ; biolink:category biolink:Gene . OMIM:609276 a owl:Class ; @@ -263555,7 +273556,6 @@ OMIM:609276 a owl:Class ; PMID:7584044 ; RO:0002525 CHR:9606chr11q25 ; RO:0003303 OMIM:617984 ; - oboInOwl:hasDbXref UMLS:C1826381 ; oboInOwl:hasExactSynonym "NCAPD3", "chromosome-associated protein d3", "condensin 2 complex, non-smc subunit d3", @@ -263563,18 +273563,21 @@ OMIM:609276 a owl:Class ; "non-smc condensin 2 complex subunit d3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23310 ; - skos:exactMatch HGNC_symbol:NCAPD3 ; + skos:exactMatch UMLS:C1826381, + HGNC:28952, + HGNC_symbol:NCAPD3 ; biolink:category biolink:Gene . OMIM:609277 a owl:Class ; rdfs:label "MOCS3" ; IAO:0000142 PMID:15073332 ; - oboInOwl:hasDbXref UMLS:C1423714 ; oboInOwl:hasExactSynonym "MOCS3", "molybdenum cofactor synthesis 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27304 ; - skos:exactMatch HGNC_symbol:MOCS3 ; + skos:exactMatch UMLS:C1423714, + HGNC:15765, + HGNC_symbol:MOCS3 ; biolink:category biolink:Gene . OMIM:609278 a owl:Class ; @@ -263585,14 +273588,15 @@ OMIM:609278 a owl:Class ; PMID:24739963, PMID:27309808, PMID:27309818 ; - oboInOwl:hasDbXref UMLS:C1825632 ; oboInOwl:hasExactSynonym "IZUMO1", "izumo sperm-egg fusion protein 1", "mgc34799", "sperm-specific protein izumo" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284359 ; - skos:exactMatch HGNC_symbol:IZUMO1 ; + skos:exactMatch UMLS:C1825632, + HGNC:28539, + HGNC_symbol:IZUMO1 ; biolink:category biolink:Gene . OMIM:609279 a owl:Class ; @@ -263614,13 +273618,14 @@ OMIM:609279 a owl:Class ; PMID:24613305 ; RO:0002525 CHR:9606chr13q12.12-q12.13 ; RO:0003303 OMIM:608393 ; - oboInOwl:hasDbXref UMLS:C1424863 ; oboInOwl:hasExactSynonym "CENPJ", "centromeric protein j", "centrosomal p4.1-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55835 ; - skos:exactMatch HGNC_symbol:CENPJ ; + skos:exactMatch UMLS:C1424863, + HGNC:17272, + HGNC_symbol:CENPJ ; biolink:category biolink:Gene . OMIM:609280 a owl:Class ; @@ -263637,40 +273642,43 @@ OMIM:609280 a owl:Class ; PMID:26982722 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:234810 ; - oboInOwl:hasDbXref UMLS:C1426334 ; oboInOwl:hasExactSynonym "EIF2AK4", "eukaryotic translation initiation factor 2-alpha kinase 4", "general control nonderepressible 2", "kiaa1338" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440275 ; - skos:exactMatch HGNC_symbol:EIF2AK4 ; + skos:exactMatch UMLS:C1426334, + HGNC:19687, + HGNC_symbol:EIF2AK4 ; biolink:category biolink:Gene . OMIM:609281 a owl:Class ; rdfs:label "MOB1A" ; IAO:0000142 PMID:15766530 ; - oboInOwl:hasDbXref UMLS:C1537929 ; oboInOwl:hasExactSynonym "MOB1A", "mats, drosophila, homolog of, 1", "mob kinase activator 1a", "mob1-like protein 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55233 ; - skos:exactMatch HGNC_symbol:MOB1A ; + skos:exactMatch UMLS:C1537929, + HGNC:16015, + HGNC_symbol:MOB1A ; biolink:category biolink:Gene . OMIM:609282 a owl:Class ; rdfs:label "MOB1B" ; IAO:0000142 PMID:15766530 ; - oboInOwl:hasDbXref UMLS:C1428892 ; oboInOwl:hasExactSynonym "MOB1B", "mats, drosophila, homolog of, 2", "mob kinase activator 1b", "mob1-like protein 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92597 ; - skos:exactMatch HGNC_symbol:MOB1B ; + skos:exactMatch UMLS:C1428892, + HGNC:29801, + HGNC_symbol:MOB1B ; biolink:category biolink:Gene . OMIM:609287 a owl:Class ; @@ -263681,7 +273689,6 @@ OMIM:609287 a owl:Class ; PMID:15452144, PMID:16319893, PMID:19132989 ; - oboInOwl:hasDbXref UMLS:C1420028 ; oboInOwl:hasExactSynonym "SH3GLB1", "bax-interacting factor 1", "endophilin b1", @@ -263689,21 +273696,24 @@ OMIM:609287 a owl:Class ; "sh3 domain, grb2-like, endophilin b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51100 ; - skos:exactMatch HGNC_symbol:SH3GLB1 ; + skos:exactMatch UMLS:C1420028, + HGNC:10833, + HGNC_symbol:SH3GLB1 ; biolink:category biolink:Gene . OMIM:609288 a owl:Class ; rdfs:label "SH3GLB2" ; IAO:0000142 PMID:11161816, PMID:11347906 ; - oboInOwl:hasDbXref UMLS:C1420029 ; oboInOwl:hasExactSynonym "SH3GLB2", "endophilin b2", "kiaa1848", "sh3 domain, grb2-like, endophilin b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56904 ; - skos:exactMatch HGNC_symbol:SH3GLB2 ; + skos:exactMatch UMLS:C1420029, + HGNC:10834, + HGNC_symbol:SH3GLB2 ; biolink:category biolink:Gene . OMIM:609290 a owl:Class ; @@ -263716,13 +273726,14 @@ OMIM:609290 a owl:Class ; PMID:6303943, PMID:7140357, PMID:7774911 ; - oboInOwl:hasDbXref UMLS:C1412307 ; oboInOwl:hasExactSynonym "AK3", "adenylate kinase 3", "adenylate kinase 3-like 1, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50808 ; - skos:exactMatch HGNC_symbol:AK3 ; + skos:exactMatch UMLS:C1412307, + HGNC:17376, + HGNC_symbol:AK3 ; biolink:category biolink:Gene . OMIM:609291 a owl:Class ; @@ -263742,12 +273753,13 @@ OMIM:609291 a owl:Class ; PMID:30385465 ; RO:0002525 CHR:9606chr15q14 ; RO:0003303 OMIM:611431 ; - oboInOwl:hasDbXref UMLS:C1426807 ; oboInOwl:hasExactSynonym "SPRED1", "sprouty-related evh1 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161742 ; - skos:exactMatch HGNC_symbol:SPRED1 ; + skos:exactMatch UMLS:C1426807, + HGNC:20249, + HGNC_symbol:SPRED1 ; biolink:category biolink:Gene . OMIM:609292 a owl:Class ; @@ -263757,24 +273769,26 @@ OMIM:609292 a owl:Class ; PMID:15465815 ; RO:0002525 CHR:9606chr2p14 ; RO:0003303 OMIM:619745 ; - oboInOwl:hasDbXref UMLS:C1425048 ; oboInOwl:hasExactSynonym "SPRED2", "sprouty-related evh1 domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200734 ; - skos:exactMatch HGNC_symbol:SPRED2 ; + skos:exactMatch UMLS:C1425048, + HGNC:17722, + HGNC_symbol:SPRED2 ; biolink:category biolink:Gene . OMIM:609293 a owl:Class ; rdfs:label "SPRED3" ; IAO:0000142 PMID:12646235, PMID:15465815 ; - oboInOwl:hasDbXref UMLS:C1429057 ; oboInOwl:hasExactSynonym "SPRED3", "sprouty-related evh1 domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399473 ; - skos:exactMatch HGNC_symbol:SPRED3 ; + skos:exactMatch UMLS:C1429057, + HGNC:31041, + HGNC_symbol:SPRED3 ; biolink:category biolink:Gene . OMIM:609294 a owl:Class ; @@ -263782,13 +273796,14 @@ OMIM:609294 a owl:Class ; IAO:0000142 PMID:11347906, PMID:12110693, PMID:23646199 ; - oboInOwl:hasDbXref UMLS:C1419958 ; oboInOwl:hasExactSynonym "SEMA6C", "kiaa1869", "semaphorin 6c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10500 ; - skos:exactMatch HGNC_symbol:SEMA6C ; + skos:exactMatch UMLS:C1419958, + HGNC:10740, + HGNC_symbol:SEMA6C ; biolink:category biolink:Gene . OMIM:609295 a owl:Class ; @@ -263796,13 +273811,14 @@ OMIM:609295 a owl:Class ; IAO:0000142 PMID:10819331, PMID:12110693, PMID:23646199 ; - oboInOwl:hasDbXref UMLS:C1539745 ; oboInOwl:hasExactSynonym "SEMA6D", "kiaa1479", "semaphorin 6d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80031 ; - skos:exactMatch HGNC_symbol:SEMA6D ; + skos:exactMatch UMLS:C1539745, + HGNC:16770, + HGNC_symbol:SEMA6D ; biolink:category biolink:Gene . OMIM:609297 a owl:Class ; @@ -263813,27 +273829,29 @@ OMIM:609297 a owl:Class ; PMID:8817451, PMID:9049630, PMID:9464278 ; - oboInOwl:hasDbXref UMLS:C1419954 ; oboInOwl:hasExactSynonym "SEMA5A", "semaphorin 5a", "semaphorin f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9037 ; - skos:exactMatch HGNC_symbol:SEMA5A ; + skos:exactMatch UMLS:C1419954, + HGNC:10736, + HGNC_symbol:SEMA5A ; biolink:category biolink:Gene . OMIM:609298 a owl:Class ; rdfs:label "SEMA5B" ; IAO:0000142 PMID:10819331, PMID:8817451 ; - oboInOwl:hasDbXref UMLS:C1419955 ; oboInOwl:hasExactSynonym "SEMA5B", "kiaa1445", "semaphorin 5b", "semaphorin g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54437 ; - skos:exactMatch HGNC_symbol:SEMA5B ; + skos:exactMatch UMLS:C1419955, + HGNC:10737, + HGNC_symbol:SEMA5B ; biolink:category biolink:Gene . OMIM:609300 a owl:Class ; @@ -263890,7 +273908,6 @@ OMIM:609300 a owl:Class ; PMID:9435441 ; RO:0002525 CHR:9606chr10q24.32 ; RO:0003303 OMIM:202110 ; - oboInOwl:hasDbXref UMLS:C1413858 ; oboInOwl:hasExactSynonym "CYP17A1", "cyp17", "cytochrome p450, family 17, subfamily a, polypeptide 1", @@ -263901,7 +273918,9 @@ OMIM:609300 a owl:Class ; "steroid 17-hydroxylase/17,20-lyase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1586 ; - skos:exactMatch HGNC_symbol:CYP17A1 ; + skos:exactMatch UMLS:C1413858, + HGNC:2593, + HGNC_symbol:CYP17A1 ; biolink:category biolink:Gene . OMIM:609301 a owl:Class ; @@ -263913,7 +273932,6 @@ OMIM:609301 a owl:Class ; PMID:31898316 ; RO:0002525 CHR:9606chr6q23.3 ; RO:0003303 OMIM:619208 ; - oboInOwl:hasDbXref UMLS:C1425018 ; oboInOwl:hasExactSynonym "PERP", "kcp1", "keratinocyte-associated protein 1", @@ -263921,7 +273939,9 @@ OMIM:609301 a owl:Class ; "thw" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64065 ; - skos:exactMatch HGNC_symbol:PERP ; + skos:exactMatch UMLS:C1425018, + HGNC:17637, + HGNC_symbol:PERP ; biolink:category biolink:Gene . OMIM:609302 a owl:Class ; @@ -263933,14 +273953,15 @@ OMIM:609302 a owl:Class ; PMID:24596948 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:609304 ; - oboInOwl:hasDbXref UMLS:C0270855, - UMLS:C1426556 ; oboInOwl:hasExactSynonym "SLC25A22", "glutamate carrier 1", "solute carrier family 25 (mitochondrial carrier, glutamate), member 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79751 ; - skos:exactMatch HGNC_symbol:SLC25A22 ; + skos:exactMatch UMLS:C0270855, + UMLS:C1426556, + HGNC:19954, + HGNC_symbol:SLC25A22 ; biolink:category biolink:Gene . OMIM:609303 a owl:Class ; @@ -263948,13 +273969,14 @@ OMIM:609303 a owl:Class ; IAO:0000142 PMID:11381032, PMID:11897791, PMID:14598172 ; - oboInOwl:hasDbXref UMLS:C1420159 ; oboInOwl:hasExactSynonym "SLC25A18", "glutamate carrier 2", "solute carrier family 25 (mitochondrial carrier, glutamate), member 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83733 ; - skos:exactMatch HGNC_symbol:SLC25A18 ; + skos:exactMatch UMLS:C1420159, + HGNC:10988, + HGNC_symbol:SLC25A18 ; biolink:category biolink:Gene . OMIM:609305 a owl:Class ; @@ -263962,14 +273984,15 @@ OMIM:609305 a owl:Class ; IAO:0000142 PMID:15738388, PMID:17220891, PMID:8618874 ; - oboInOwl:hasDbXref UMLS:C1537624 ; oboInOwl:hasExactSynonym "LXN", "endogenous carboxypeptidase inhibitor", "latexin", "tissue carboxypeptidase inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56925 ; - skos:exactMatch HGNC_symbol:LXN ; + skos:exactMatch UMLS:C1537624, + HGNC:13347, + HGNC_symbol:LXN ; biolink:category biolink:Gene . OMIM:609309 a owl:Class ; @@ -264047,17 +274070,18 @@ OMIM:609309 a owl:Class ; PMID:9927034 ; RO:0002525 CHR:9606chr2p21-p16.3 ; RO:0003303 OMIM:158320 ; - oboInOwl:hasDbXref UMLS:C0879290, - UMLS:C1321489, - UMLS:C2936783, - UMLS:C4017191, - UMLS:C5436806 ; oboInOwl:hasExactSynonym "MSH2", "muts homolog 2", "muts, e. coli, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4436 ; - skos:exactMatch HGNC_symbol:MSH2 ; + skos:exactMatch UMLS:C0879290, + UMLS:C1321489, + UMLS:C2936783, + UMLS:C4017191, + UMLS:C5436806, + HGNC:7325, + HGNC_symbol:MSH2 ; biolink:category biolink:Gene . OMIM:609310 a owl:Class ; @@ -264081,12 +274105,12 @@ OMIM:609310 a owl:Class ; PMID:8128251, PMID:8145827, PMID:9245993 ; - oboInOwl:hasDbXref UMLS:C1333991 ; oboInOwl:hasExactSynonym "HNPCC2", "coca2", "colon cancer, familial nonpolyposis, iia 2", "colorectal cancer, hereditary nonpolyposis, iia 2" ; rdfs:subClassOf OMIMPS:120435 ; + skos:exactMatch UMLS:C1333991 ; biolink:category biolink:Disease . OMIM:609312 a owl:Class ; @@ -264121,13 +274145,14 @@ OMIM:609312 a owl:Class ; PMID:9393852 ; RO:0002525 CHR:9606chr9q34.2 ; RO:0003303 OMIM:223360 ; - oboInOwl:hasDbXref UMLS:C1413916 ; oboInOwl:hasExactSynonym "DBH", "dopamine beta-hydroxylase, plasma", "dopamine beta-monooxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1621 ; - skos:exactMatch HGNC_symbol:DBH ; + skos:exactMatch UMLS:C1413916, + HGNC:2689, + HGNC_symbol:DBH ; biolink:category biolink:Gene . OMIM:609314 a owl:Class ; @@ -264138,7 +274163,6 @@ OMIM:609314 a owl:Class ; PMID:9578619 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:615481 ; - oboInOwl:hasDbXref UMLS:C1421199 ; oboInOwl:hasExactSynonym "RSPH1", "male meiotic metaphase chromosome-associated acidic protein", "radial spoke head 1, chlamydomonas, homolog of", @@ -264147,32 +274171,36 @@ OMIM:609314 a owl:Class ; "tsa2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89765 ; - skos:exactMatch HGNC_symbol:RSPH1 ; + skos:exactMatch UMLS:C1421199, + HGNC:12371, + HGNC_symbol:RSPH1 ; biolink:category biolink:Gene . OMIM:609315 a owl:Class ; rdfs:label "TRIM7" ; IAO:0000142 PMID:11331580, PMID:11916970 ; - oboInOwl:hasDbXref UMLS:C1424148 ; oboInOwl:hasExactSynonym "TRIM7", "glycogen-interacting protein", "tripartite motif-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81786 ; - skos:exactMatch HGNC_symbol:TRIM7 ; + skos:exactMatch UMLS:C1424148, + HGNC:16278, + HGNC_symbol:TRIM7 ; biolink:category biolink:Gene . OMIM:609316 a owl:Class ; rdfs:label "TRIM31" ; IAO:0000142 PMID:11331580 ; - oboInOwl:hasDbXref UMLS:C1424157 ; oboInOwl:hasExactSynonym "TRIM31", "hcgi", "tripartite motif-containing protein 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11074 ; - skos:exactMatch HGNC_symbol:TRIM31 ; + skos:exactMatch UMLS:C1424157, + HGNC:16289, + HGNC_symbol:TRIM31 ; biolink:category biolink:Gene . OMIM:609317 a owl:Class ; @@ -264182,24 +274210,26 @@ OMIM:609317 a owl:Class ; PMID:28087737 ; RO:0002525 CHR:9606chr5q22.3 ; RO:0003303 OMIM:206500 ; - oboInOwl:hasDbXref UMLS:C1424149 ; oboInOwl:hasExactSynonym "TRIM36", "rbcc728", "tripartite motif-containing protein 36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55521 ; - skos:exactMatch HGNC_symbol:TRIM36 ; + skos:exactMatch UMLS:C1424149, + HGNC:16280, + HGNC_symbol:TRIM36 ; biolink:category biolink:Gene . OMIM:609318 a owl:Class ; rdfs:label "TRIM45" ; IAO:0000142 PMID:15351693 ; - oboInOwl:hasDbXref UMLS:C1425955 ; oboInOwl:hasExactSynonym "TRIM45", "tripartite motif-containing protein 45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80263 ; - skos:exactMatch HGNC_symbol:TRIM45 ; + skos:exactMatch UMLS:C1425955, + HGNC:19018, + HGNC_symbol:TRIM45 ; biolink:category biolink:Gene . OMIM:609321 a owl:Class ; @@ -264212,14 +274242,15 @@ OMIM:609321 a owl:Class ; PMID:30639237 ; RO:0002525 CHR:9606chr1p21.2 ; RO:0003303 OMIM:616402 ; - oboInOwl:hasDbXref UMLS:C1822613, - UMLS:C4225338 ; oboInOwl:hasExactSynonym "SASS6", "sas6 centriolar assembly protein", "sas6, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163786 ; - skos:exactMatch HGNC_symbol:SASS6 ; + skos:exactMatch UMLS:C1822613, + UMLS:C4225338, + HGNC:25403, + HGNC_symbol:SASS6 ; biolink:category biolink:Gene . OMIM:609322 a owl:Class ; @@ -264239,11 +274270,6 @@ OMIM:609322 a owl:Class ; PMID:8818656, PMID:9671307, PMID:9737241 ; - oboInOwl:hasDbXref UMLS:C0206743, - UMLS:C1836327, - ORPHA:231108, - ORPHA:69077, - ORPHA:99966 ; oboInOwl:hasExactSynonym "RTPS1", "at/rt", "brain tumor, posterior fossa, of infancy, familial", @@ -264252,32 +274278,38 @@ OMIM:609322 a owl:Class ; "rhabdoid tumor predisposition syndrome 1", "teratoid tumor, atypical" ; rdfs:subClassOf OMIMPS:609322 ; + skos:exactMatch UMLS:C0206743, + UMLS:C1836327, + ORPHA:231108, + ORPHA:69077, + ORPHA:99966 ; biolink:category biolink:Disease . OMIM:609323 a owl:Class ; rdfs:label "OLIG3" ; IAO:0000142 PMID:15769945 ; - oboInOwl:hasDbXref UMLS:C1425231 ; oboInOwl:hasExactSynonym "OLIG3", "basic helix-loop-helix domain-containing protein, class b, 7", "oligodendrocyte lineage transcription factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:167826 ; - skos:exactMatch HGNC_symbol:OLIG3 ; + skos:exactMatch UMLS:C1425231, + HGNC:18003, + HGNC_symbol:OLIG3 ; biolink:category biolink:Gene . OMIM:609324 a owl:Class ; rdfs:label "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia" ; IAO:0000142 PMID:15523498 ; - oboInOwl:hasDbXref UMLS:C1836315 ; oboInOwl:hasExactSynonym "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia" ; + skos:exactMatch UMLS:C1836315 ; biolink:category biolink:Disease . OMIM:609325 a owl:Class ; rdfs:label "epiphyseal dysplasia, multiple, with miniepiphyses" ; IAO:0000142 PMID:15523498 ; - oboInOwl:hasDbXref UMLS:C1836307 ; oboInOwl:hasExactSynonym "epiphyseal dysplasia, multiple, with miniepiphyses" ; + skos:exactMatch UMLS:C1836307 ; biolink:category biolink:Disease . OMIM:609326 a owl:Class ; @@ -264296,14 +274328,15 @@ OMIM:609326 a owl:Class ; PMID:18769430, PMID:20703300, PMID:32760005 ; - oboInOwl:hasDbXref UMLS:C1537699 ; oboInOwl:hasExactSynonym "MIR1-1", "micro RNA 1-1", "mirn1-1", "mirna1-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406904 ; - skos:exactMatch HGNC_symbol:MIR1-1 ; + skos:exactMatch UMLS:C1537699, + HGNC:31499, + HGNC_symbol:MIR1-1 ; biolink:category biolink:Gene . OMIM:609327 a owl:Class ; @@ -264318,7 +274351,6 @@ OMIM:609327 a owl:Class ; PMID:19663910, PMID:21131957, PMID:21753754 ; - oboInOwl:hasDbXref UMLS:C1836306 ; oboInOwl:hasExactSynonym "MIR124-1", "micro RNA 124-1", "mir124a1", @@ -264328,18 +274360,21 @@ OMIM:609327 a owl:Class ; "mirna124a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406907 ; - skos:exactMatch HGNC_symbol:MIR124-1 ; + skos:exactMatch UMLS:C1836306, + HGNC:31502, + HGNC_symbol:MIR124-1 ; biolink:category biolink:Gene . OMIM:609328 a owl:Class ; rdfs:label "UCK1" ; IAO:0000142 PMID:11306702 ; - oboInOwl:hasDbXref UMLS:C1540156 ; oboInOwl:hasExactSynonym "UCK1", "uridine/cytidine kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83549 ; - skos:exactMatch HGNC_symbol:UCK1 ; + skos:exactMatch UMLS:C1540156, + HGNC:14859, + HGNC_symbol:UCK1 ; biolink:category biolink:Gene . OMIM:609329 a owl:Class ; @@ -264347,40 +274382,43 @@ OMIM:609329 a owl:Class ; IAO:0000142 PMID:1108769, PMID:11306702, PMID:8812458 ; - oboInOwl:hasDbXref UMLS:C1540157 ; oboInOwl:hasExactSynonym "UCK2", "tsa903", "uridine/cytidine kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7371 ; - skos:exactMatch HGNC_symbol:UCK2 ; + skos:exactMatch UMLS:C1540157, + HGNC:12562, + HGNC_symbol:UCK2 ; biolink:category biolink:Gene . OMIM:609330 a owl:Class ; rdfs:label "OIT3" ; IAO:0000142 PMID:12939600, PMID:15589826 ; - oboInOwl:hasDbXref UMLS:C1538531 ; oboInOwl:hasExactSynonym "OIT3", "liver-specific zona pellucida domain-containing protein", "oncoprotein-induced transcript 3", "oncoprotein-induced transcript 3, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170392 ; - skos:exactMatch HGNC_symbol:OIT3 ; + skos:exactMatch UMLS:C1538531, + HGNC:29953, + HGNC_symbol:OIT3 ; biolink:category biolink:Gene . OMIM:609331 a owl:Class ; rdfs:label "BHLHE23" ; IAO:0000142 PMID:11863370, PMID:15363390 ; - oboInOwl:hasDbXref UMLS:C1423974 ; oboInOwl:hasExactSynonym "BHLHE23", "basic helix-loop-helix domain-containing protein, class b, 4", "basic helix-loop-helix family, member e23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128408 ; - skos:exactMatch HGNC_symbol:BHLHE23 ; + skos:exactMatch UMLS:C1423974, + HGNC:16093, + HGNC_symbol:BHLHE23 ; biolink:category biolink:Gene . OMIM:609332 a owl:Class ; @@ -264395,14 +274433,15 @@ OMIM:609332 a owl:Class ; PMID:29174094 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:243150 ; - oboInOwl:hasDbXref UMLS:C1540111 ; oboInOwl:hasExactSynonym "TTC7A", "kiaa1140", "tetratricopeptide repeat domain-containing protein 7a", "ttc7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57217 ; - skos:exactMatch HGNC_symbol:TTC7A ; + skos:exactMatch UMLS:C1540111, + HGNC:19750, + HGNC_symbol:TTC7A ; biolink:category biolink:Gene . OMIM:609333 a owl:Class ; @@ -264411,13 +274450,14 @@ OMIM:609333 a owl:Class ; PMID:11723224, PMID:15718104, PMID:16878137 ; - oboInOwl:hasDbXref UMLS:C1539908 ; oboInOwl:hasExactSynonym "TAAR1", "tar1", "trace amine-associated receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134864 ; - skos:exactMatch HGNC_symbol:TAAR1 ; + skos:exactMatch UMLS:C1539908, + HGNC:17734, + HGNC_symbol:TAAR1 ; biolink:category biolink:Gene . OMIM:609334 a owl:Class ; @@ -264426,22 +274466,23 @@ OMIM:609334 a owl:Class ; PMID:20420035, PMID:9401106 ; RO:0002525 CHR:9606chr18q22 ; - oboInOwl:hasDbXref UMLS:C1836305 ; oboInOwl:hasExactSynonym "chromosome 18 pericentric inversion" ; + skos:exactMatch UMLS:C1836305 ; biolink:category biolink:Disease . OMIM:609335 a owl:Class ; rdfs:label "ODR4" ; IAO:0000142 PMID:11318611, PMID:15718105 ; - oboInOwl:hasDbXref UMLS:C1538979 ; oboInOwl:hasExactSynonym "ODR4", "chromosome 1 open reading frame 27", "odorant response abnormal 4, c. elegans, homolog of", "odr4 gpcr localization factor homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54953 ; - skos:exactMatch HGNC_symbol:ODR4 ; + skos:exactMatch UMLS:C1538979, + HGNC:24299, + HGNC_symbol:ODR4 ; biolink:category biolink:Gene . OMIM:609336 a owl:Class ; @@ -264451,13 +274492,14 @@ OMIM:609336 a owl:Class ; PMID:15778720, PMID:19075393, PMID:22660330 ; - oboInOwl:hasDbXref UMLS:C1427941 ; oboInOwl:hasExactSynonym "ANGPTL6", "angiopoietin-like 6", "angiopoietin-related growth factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83854 ; - skos:exactMatch HGNC_symbol:ANGPTL6 ; + skos:exactMatch UMLS:C1427941, + HGNC:23140, + HGNC_symbol:ANGPTL6 ; biolink:category biolink:Gene . OMIM:609337 a owl:Class ; @@ -264485,7 +274527,6 @@ OMIM:609337 a owl:Class ; PMID:24516198, PMID:24856900, PMID:24891206 ; - oboInOwl:hasDbXref UMLS:C1537811 ; oboInOwl:hasExactSynonym "MIR155", "bic transcript", "micro RNA 155", @@ -264493,7 +274534,9 @@ OMIM:609337 a owl:Class ; "mirna155" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406947 ; - skos:exactMatch HGNC_symbol:MIR155 ; + skos:exactMatch UMLS:C1537811, + HGNC:31542, + HGNC_symbol:MIR155 ; biolink:category biolink:Gene . OMIM:609338 a owl:Class ; @@ -264502,10 +274545,10 @@ OMIM:609338 a owl:Class ; PMID:10458720, PMID:12574549, PMID:8553406 ; - oboInOwl:hasDbXref UMLS:C1836302 ; oboInOwl:hasExactSynonym "carotid intimal medial thickness 1", "cimt1", "intimal medial thickness of internal carotid artery" ; + skos:exactMatch UMLS:C1836302 ; biolink:category biolink:Disease . OMIM:609339 a owl:Class ; @@ -264516,14 +274559,15 @@ OMIM:609341 a owl:Class ; rdfs:label "TPSG1" ; IAO:0000142 PMID:10521469, PMID:10843716 ; - oboInOwl:hasDbXref UMLS:C1422428 ; oboInOwl:hasExactSynonym "TPSG1", "transmembrane tryptase", "tryptase, gamma", "tryptase, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25823 ; - skos:exactMatch HGNC_symbol:TPSG1 ; + skos:exactMatch UMLS:C1422428, + HGNC:14134, + HGNC_symbol:TPSG1 ; biolink:category biolink:Gene . OMIM:609342 a owl:Class ; @@ -264536,48 +274580,51 @@ OMIM:609342 a owl:Class ; PMID:9530637 ; RO:0002525 CHR:9606chr11q12.1 ; RO:0003303 OMIM:261000 ; - oboInOwl:hasDbXref UMLS:C1394891, - UMLS:C1415066, - UMLS:C4017193 ; oboInOwl:hasExactSynonym "CBLIF", "cobalamin-binding intrinsic factor", "gastric intrinsic factor", "if" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2694 ; - skos:exactMatch HGNC_symbol:CBLIF ; + skos:exactMatch UMLS:C1394891, + UMLS:C1415066, + UMLS:C4017193, + HGNC:4268, + HGNC_symbol:CBLIF ; biolink:category biolink:Gene . OMIM:609343 a owl:Class ; rdfs:label "PRSS22" ; IAO:0000142 PMID:11602603 ; - oboInOwl:hasDbXref UMLS:C1422596 ; oboInOwl:hasExactSynonym "PRSS22", "protease, serine, 22", "tryptase, epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64063 ; - skos:exactMatch HGNC_symbol:PRSS22 ; + skos:exactMatch UMLS:C1422596, + HGNC:14368, + HGNC_symbol:PRSS22 ; biolink:category biolink:Gene . OMIM:609344 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15793581 ; - oboInOwl:hasDbXref UMLS:C1824791 ; oboInOwl:hasExactSynonym "kcp", "kielin-like protein", "kielin/chordin-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375616 ; - skos:exactMatch HGNC_symbol:KCP ; + skos:exactMatch UMLS:C1824791, + HGNC:17585, + HGNC_symbol:KCP ; biolink:category biolink:Gene . OMIM:609345 a owl:Class ; rdfs:label "cerebrorenodigital syndrome with limb malformations and triradiate acetabula" ; IAO:0000142 PMID:15389699, PMID:6654326 ; - oboInOwl:hasDbXref UMLS:C1836287 ; - oboInOwl:hasExactSynonym "cerebrorenodigital syndrome with limb malformations and triradiate acetabula" . + oboInOwl:hasExactSynonym "cerebrorenodigital syndrome with limb malformations and triradiate acetabula" ; + skos:exactMatch UMLS:C1836287 . OMIM:609346 a owl:Class ; rdfs:label "REEP6" ; @@ -264587,7 +274634,6 @@ OMIM:609346 a owl:Class ; PMID:27889058 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:617304 ; - oboInOwl:hasDbXref UMLS:C1836286 ; oboInOwl:hasExactSynonym "REEP6", "chromosome 19 open reading frame 32", "deleted 1n polyposis 1-like 1", @@ -264595,7 +274641,9 @@ OMIM:609346 a owl:Class ; "tb2-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92840 ; - skos:exactMatch HGNC_symbol:REEP6 ; + skos:exactMatch UMLS:C1836286, + HGNC:30078, + HGNC_symbol:REEP6 ; biolink:category biolink:Gene . OMIM:609347 a owl:Class ; @@ -264607,49 +274655,53 @@ OMIM:609347 a owl:Class ; PMID:24388663 ; RO:0002525 CHR:9606chr5q31.2 ; RO:0003303 OMIM:615625 ; - oboInOwl:hasDbXref UMLS:C1826794 ; oboInOwl:hasExactSynonym "REEP2", "chromosome 5 open reading frame 19", "receptor expression-enhancing protein 2", "sgc32445" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51308 ; - skos:exactMatch HGNC_symbol:REEP2 ; + skos:exactMatch UMLS:C1826794, + HGNC:17975, + HGNC_symbol:REEP2 ; biolink:category biolink:Gene . OMIM:609348 a owl:Class ; rdfs:label "REEP3" ; IAO:0000142 PMID:15550249 ; - oboInOwl:hasDbXref UMLS:C1428213 ; oboInOwl:hasExactSynonym "REEP3", "chromosome 10 open reading frame 74", "receptor expression-enhancing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221035 ; - skos:exactMatch HGNC_symbol:REEP3 ; + skos:exactMatch UMLS:C1428213, + HGNC:23711, + HGNC_symbol:REEP3 ; biolink:category biolink:Gene . OMIM:609349 a owl:Class ; rdfs:label "REEP4" ; IAO:0000142 PMID:15550249 ; - oboInOwl:hasDbXref UMLS:C1826795 ; oboInOwl:hasExactSynonym "REEP4", "chromosome 8 open reading frame 20", "receptor expression-enhancing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80346 ; - skos:exactMatch HGNC_symbol:REEP4 ; + skos:exactMatch UMLS:C1826795, + HGNC:26176, + HGNC_symbol:REEP4 ; biolink:category biolink:Gene . OMIM:609350 a owl:Class ; rdfs:label "RTP4" ; IAO:0000142 PMID:15550249 ; - oboInOwl:hasDbXref UMLS:C1826954 ; oboInOwl:hasExactSynonym "RTP4", "receptor-transporting protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64108 ; - skos:exactMatch HGNC_symbol:RTP4 ; + skos:exactMatch UMLS:C1826954, + HGNC:23992, + HGNC_symbol:RTP4 ; biolink:category biolink:Gene . OMIM:609351 a owl:Class ; @@ -264658,24 +274710,25 @@ OMIM:609351 a owl:Class ; PMID:16038057, PMID:16540626, PMID:18337727 ; - oboInOwl:hasDbXref UMLS:C1428339 ; oboInOwl:hasExactSynonym "ARL11", "adp-ribosylation factor-like gtpase 11", "adp-ribosylation factor-like tumor suppressor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115761 ; - skos:exactMatch HGNC_symbol:ARL11 ; + skos:exactMatch UMLS:C1428339, + HGNC:24046, + HGNC_symbol:ARL11 ; biolink:category biolink:Gene . OMIM:609352 a owl:Class ; rdfs:label "epidermolysis bullosa simplex 2e, with migratory circinate erythema" ; IAO:0000142 PMID:12925204, PMID:15324323 ; - oboInOwl:hasDbXref UMLS:C1836284 ; oboInOwl:hasExactSynonym "EBS2E", "epidermolysis bullosa simplex 2e, with migratory circinate erythema", "epidermolysis bullosa simplex with migratory circinate erythema" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C1836284 ; biolink:category biolink:Disease . OMIM:609353 a owl:Class ; @@ -264693,7 +274746,6 @@ OMIM:609353 a owl:Class ; PMID:495649 ; RO:0002525 CHR:9606chr8p21.1 ; RO:0003303 OMIM:268300 ; - oboInOwl:hasDbXref UMLS:C1539367 ; oboInOwl:hasExactSynonym "ESCO2", "ctf7, s. cerevisiae, homolog of, 2", "eco1, s. cerevisiae, homolog of, 2", @@ -264703,28 +274755,30 @@ OMIM:609353 a owl:Class ; "establishment of sister chromatid cohesion n-acetyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157570 ; - skos:exactMatch HGNC_symbol:ESCO2 ; + skos:exactMatch UMLS:C1539367, + HGNC:27230, + HGNC_symbol:ESCO2 ; biolink:category biolink:Gene . OMIM:609355 a owl:Class ; rdfs:label "MIR32" ; IAO:0000142 PMID:11679670, PMID:15845854 ; - oboInOwl:hasDbXref UMLS:C1537743 ; oboInOwl:hasExactSynonym "MIR32", "micro RNA 32", "mirn32", "mirna32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407036 ; - skos:exactMatch HGNC_symbol:MIR32 ; + skos:exactMatch UMLS:C1537743, + HGNC:31631, + HGNC_symbol:MIR32 ; biolink:category biolink:Gene . OMIM:609356 a owl:Class ; rdfs:label "NUFIP2" ; IAO:0000142 PMID:10718198, PMID:12837692 ; - oboInOwl:hasDbXref UMLS:C1826496 ; oboInOwl:hasExactSynonym "82-fip", "NUFIP2", "fmrp-interacting protein, 82-kd", @@ -264733,7 +274787,9 @@ OMIM:609356 a owl:Class ; "proliferation-inducing gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57532 ; - skos:exactMatch HGNC_symbol:NUFIP2 ; + skos:exactMatch UMLS:C1826496, + HGNC:17634, + HGNC_symbol:NUFIP2 ; biolink:category biolink:Gene . OMIM:609357 a owl:Class ; @@ -264743,28 +274799,30 @@ OMIM:609357 a owl:Class ; PMID:15494305 ; RO:0002525 CHR:9606chr10p13 ; RO:0003303 OMIM:619313 ; - oboInOwl:hasDbXref UMLS:C1334488 ; oboInOwl:hasExactSynonym "MCM10", "dna43", "minichromosome maintenance 10, s. cerevisiae, homolog of", "minichromosome maintenance complex component 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55388 ; - skos:exactMatch HGNC_symbol:MCM10 ; + skos:exactMatch UMLS:C1334488, + HGNC:18043, + HGNC_symbol:MCM10 ; biolink:category biolink:Gene . OMIM:609358 a owl:Class ; rdfs:label "ETV2" ; IAO:0000142 PMID:1340465, PMID:15780752 ; - oboInOwl:hasDbXref UMLS:C1414476 ; oboInOwl:hasExactSynonym "ETV2", "ets variant gene 2", "ets variant transcription factor 2", "ets-related protein 71, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2116 ; - skos:exactMatch HGNC_symbol:ETV2 ; + skos:exactMatch UMLS:C1414476, + HGNC:3491, + HGNC_symbol:ETV2 ; biolink:category biolink:Gene . OMIM:609359 a owl:Class ; @@ -264772,31 +274830,32 @@ OMIM:609359 a owl:Class ; IAO:0000142 PMID:10590261, PMID:15699368, PMID:16116142 ; - oboInOwl:hasDbXref UMLS:C1825525 ; oboInOwl:hasExactSynonym "HS1BP3", "flj14249", "hs1-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64342 ; - skos:exactMatch HGNC_symbol:HS1BP3 ; + skos:exactMatch UMLS:C1825525, + HGNC:24979, + HGNC_symbol:HS1BP3 ; biolink:category biolink:Gene . OMIM:609360 a owl:Class ; rdfs:label "RNLS" ; IAO:0000142 PMID:15841207 ; - oboInOwl:hasDbXref UMLS:C1538391 ; oboInOwl:hasExactSynonym "RNLS", "chromosome 10 open reading frame 59", "renalase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55328 ; - skos:exactMatch HGNC_symbol:RNLS ; + skos:exactMatch UMLS:C1538391, + HGNC:25641, + HGNC_symbol:RNLS ; biolink:category biolink:Gene . OMIM:609361 a owl:Class ; rdfs:label "MOB4" ; IAO:0000142 PMID:11319234 ; - oboInOwl:hasDbXref UMLS:C1424857 ; oboInOwl:hasExactSynonym "MOB4", "mob family, member 4", "mob1", @@ -264806,7 +274865,9 @@ OMIM:609361 a owl:Class ; "preimplantation protein 3, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25843 ; - skos:exactMatch HGNC_symbol:MOB4 ; + skos:exactMatch UMLS:C1424857, + HGNC:17261, + HGNC_symbol:MOB4 ; biolink:category biolink:Gene . OMIM:609362 a owl:Class ; @@ -264814,7 +274875,6 @@ OMIM:609362 a owl:Class ; IAO:0000142 PMID:10092508, PMID:11790796, PMID:14754907 ; - oboInOwl:hasDbXref UMLS:C1424787 ; oboInOwl:hasExactSynonym "LYPLA3", "acylceramide synthase", "lcat-like lysophospholipase", @@ -264822,7 +274882,9 @@ OMIM:609362 a owl:Class ; "lysosomal phospholipase a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23659 ; - skos:exactMatch HGNC_symbol:PLA2G15 ; + skos:exactMatch UMLS:C1424787, + HGNC:17163, + HGNC_symbol:PLA2G15 ; biolink:category biolink:Gene . OMIM:609363 a owl:Class ; @@ -264837,9 +274899,9 @@ OMIM:609363 a owl:Class ; PMID:7651036, PMID:8869070, PMID:8988075 ; - oboInOwl:hasDbXref UMLS:C0266481 ; oboInOwl:hasExactSynonym "colloid cysts of third ventricle", - "neuroepithelial cysts of third ventricle" . + "neuroepithelial cysts of third ventricle" ; + skos:exactMatch UMLS:C0266481 . OMIM:609364 a owl:Class ; rdfs:label "NLRP2" ; @@ -264848,7 +274910,6 @@ OMIM:609364 a owl:Class ; PMID:15456791, PMID:22295082, PMID:27881734 ; - oboInOwl:hasDbXref UMLS:C1427803 ; oboInOwl:hasExactSynonym "NLRP2", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 2", "nlr family, pyrin domain-containing 2", @@ -264856,20 +274917,23 @@ OMIM:609364 a owl:Class ; "pyrin domain-containing apaf1-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55655 ; - skos:exactMatch HGNC_symbol:NLRP2 ; + skos:exactMatch UMLS:C1427803, + HGNC:22948, + HGNC_symbol:NLRP2 ; biolink:category biolink:Gene . OMIM:609365 a owl:Class ; rdfs:label "GNL2" ; IAO:0000142 PMID:24240281, PMID:8822211 ; - oboInOwl:hasDbXref UMLS:C1539587 ; oboInOwl:hasExactSynonym "GNL2", "guanine nucleotide-binding protein-like 2", "ngp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29889 ; - skos:exactMatch HGNC_symbol:GNL2 ; + skos:exactMatch UMLS:C1539587, + HGNC:29925, + HGNC_symbol:GNL2 ; biolink:category biolink:Gene . OMIM:609366 a owl:Class ; @@ -264877,7 +274941,6 @@ OMIM:609366 a owl:Class ; IAO:0000142 PMID:15632063, PMID:8590280, PMID:8636124 ; - oboInOwl:hasDbXref UMLS:C1824811 ; oboInOwl:hasExactSynonym "CTR9", "ctr9 homolog, paf1/rna polymerase 2 complex component", "ctr9, s. cerevisiae, homolog of", @@ -264887,7 +274950,9 @@ OMIM:609366 a owl:Class ; "tetratricopeptide-containing sh2-binding phosphoprotein, 150-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9646 ; - skos:exactMatch HGNC_symbol:CTR9 ; + skos:exactMatch UMLS:C1824811, + HGNC:16850, + HGNC_symbol:CTR9 ; biolink:category biolink:Gene . OMIM:609367 a owl:Class ; @@ -264899,27 +274964,29 @@ OMIM:609367 a owl:Class ; PMID:24072599 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:609460 ; - oboInOwl:hasDbXref UMLS:C1428077 ; oboInOwl:hasExactSynonym "KIFBP", "kiaa1279", "kinesin family binding protein", "kinesin-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26128 ; - skos:exactMatch HGNC_symbol:KIFBP ; + skos:exactMatch UMLS:C1428077, + HGNC:23419, + HGNC_symbol:KIFBP ; biolink:category biolink:Gene . OMIM:609368 a owl:Class ; rdfs:label "ATL2" ; IAO:0000142 PMID:14506257 ; - oboInOwl:hasDbXref UMLS:C1428340 ; oboInOwl:hasExactSynonym "ATL2", "adp-ribosylation-like factor 6-interacting protein 2", "arl6-interacting protein 2", "atlastin gtpase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64225 ; - skos:exactMatch HGNC_symbol:ATL2 ; + skos:exactMatch UMLS:C1428340, + HGNC:24047, + HGNC_symbol:ATL2 ; biolink:category biolink:Gene . OMIM:609369 a owl:Class ; @@ -264931,49 +274998,53 @@ OMIM:609369 a owl:Class ; PMID:30680846 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:615632 ; - oboInOwl:hasDbXref UMLS:C1836273, - UMLS:C3810194 ; oboInOwl:hasExactSynonym "ATL3", "atlastin gtpase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25923 ; - skos:exactMatch HGNC_symbol:ATL3 ; + skos:exactMatch UMLS:C1836273, + UMLS:C3810194, + HGNC:24526, + HGNC_symbol:ATL3 ; biolink:category biolink:Gene . OMIM:609370 a owl:Class ; rdfs:label "STK35" ; IAO:0000142 PMID:11973348 ; - oboInOwl:hasDbXref UMLS:C1424127 ; oboInOwl:hasExactSynonym "STK35", "clp36-interacting kinase", "serine/threonine kinase 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140901 ; - skos:exactMatch HGNC_symbol:STK35 ; + skos:exactMatch UMLS:C1424127, + HGNC:16254, + HGNC_symbol:STK35 ; biolink:category biolink:Gene . OMIM:609371 a owl:Class ; rdfs:label "C5ORF5" ; IAO:0000142 PMID:11087669, PMID:11161817 ; - oboInOwl:hasDbXref UMLS:C1413010 ; oboInOwl:hasExactSynonym "C5ORF5", "chromosome 5 open reading frame 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51306 ; - skos:exactMatch HGNC_symbol:FAM13B ; + skos:exactMatch UMLS:C1413010, + HGNC:1335, + HGNC_symbol:FAM13B ; biolink:category biolink:Gene . OMIM:609372 a owl:Class ; rdfs:label "FAM53C" ; IAO:0000142 PMID:11087669 ; - oboInOwl:hasDbXref UMLS:C1539458 ; oboInOwl:hasExactSynonym "FAM53C", "chromosome 5 open reading frame 6", "family with sequence similarity 53, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51307 ; - skos:exactMatch HGNC_symbol:FAM53C ; + skos:exactMatch UMLS:C1539458, + HGNC:1336, + HGNC_symbol:FAM53C ; biolink:category biolink:Gene . OMIM:609373 a owl:Class ; @@ -264986,8 +275057,6 @@ OMIM:609373 a owl:Class ; PMID:32778823 ; RO:0002525 CHR:9606chr5q31.2 ; RO:0003303 OMIM:618846 ; - oboInOwl:hasDbXref UMLS:C1413012, - UMLS:C5394263 ; oboInOwl:hasExactSynonym "KDM3B", "chromosome 5 open reading frame 7", "jumonji domain-containing protein 1b, formerly", @@ -264997,7 +275066,10 @@ OMIM:609373 a owl:Class ; "lysine-specific demethylase 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51780 ; - skos:exactMatch HGNC_symbol:KDM3B ; + skos:exactMatch UMLS:C1413012, + UMLS:C5394263, + HGNC:1337, + HGNC_symbol:KDM3B ; biolink:category biolink:Gene . OMIM:609374 a owl:Class ; @@ -265006,26 +275078,28 @@ OMIM:609374 a owl:Class ; PMID:15837422, PMID:21111234, PMID:26164757 ; - oboInOwl:hasDbXref UMLS:C1422798 ; oboInOwl:hasExactSynonym "CDCA5", "cell division cycle-associated protein 5", "sororin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113130 ; - skos:exactMatch HGNC_symbol:CDCA5 ; + skos:exactMatch UMLS:C1422798, + HGNC:14626, + HGNC_symbol:CDCA5 ; biolink:category biolink:Gene . OMIM:609375 a owl:Class ; rdfs:label "LIN9" ; IAO:0000142 PMID:15538385, PMID:17671431 ; - oboInOwl:hasDbXref UMLS:C1537574 ; oboInOwl:hasExactSynonym "LIN9", "lin9 dream muvb core complex component", "lin9, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286826 ; - skos:exactMatch HGNC_symbol:LIN9 ; + skos:exactMatch UMLS:C1537574, + HGNC:30830, + HGNC_symbol:LIN9 ; biolink:category biolink:Gene . OMIM:609377 a owl:Class ; @@ -265042,7 +275116,6 @@ OMIM:609377 a owl:Class ; PMID:25233904 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:616553 ; - oboInOwl:hasDbXref UMLS:C1538901 ; oboInOwl:hasExactSynonym "ACD", "acd shelterin complex subunit and telomerase recruitment factor", "acd, mouse, homolog of", @@ -265052,43 +275125,48 @@ OMIM:609377 a owl:Class ; "tin2-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65057 ; - skos:exactMatch HGNC_symbol:ACD ; + skos:exactMatch UMLS:C1538901, + HGNC:25070, + HGNC_symbol:ACD ; biolink:category biolink:Gene . OMIM:609379 a owl:Class ; rdfs:label "LCN6" ; IAO:0000142 PMID:14617364 ; - oboInOwl:hasDbXref UMLS:C1424912 ; oboInOwl:hasExactSynonym "LCN6", "lipocalin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158062 ; - skos:exactMatch HGNC_symbol:LCN6 ; + skos:exactMatch UMLS:C1424912, + HGNC:17337, + HGNC_symbol:LCN6 ; biolink:category biolink:Gene . OMIM:609380 a owl:Class ; rdfs:label "LMLN" ; IAO:0000142 PMID:15557119 ; - oboInOwl:hasDbXref UMLS:C1423892 ; oboInOwl:hasExactSynonym "LMLN", "invadolysin, drosophila, homolog of", "leishmanolysin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89782 ; - skos:exactMatch HGNC_symbol:LMLN ; + skos:exactMatch UMLS:C1423892, + HGNC:15991, + HGNC_symbol:LMLN ; biolink:category biolink:Gene . OMIM:609381 a owl:Class ; rdfs:label "STXBP5L" ; IAO:0000142 PMID:14767561, PMID:25504045 ; - oboInOwl:hasDbXref UMLS:C1428995 ; oboInOwl:hasExactSynonym "STXBP5L", "lethal giant larvae, drosophila, homolog of, 4", "syntaxin-binding protein 5-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9515 ; - skos:exactMatch HGNC_symbol:STXBP5L ; + skos:exactMatch UMLS:C1428995, + HGNC:30757, + HGNC_symbol:STXBP5L ; biolink:category biolink:Gene . OMIM:609382 a owl:Class ; @@ -265101,12 +275179,13 @@ OMIM:609382 a owl:Class ; PMID:33122427 ; RO:0002525 CHR:9606chr18q21.1 ; RO:0003303 OMIM:614231 ; - oboInOwl:hasDbXref UMLS:C1537396 ; oboInOwl:hasExactSynonym "IER3IP1", "immediate-early response 3-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51124 ; - skos:exactMatch HGNC_symbol:IER3IP1 ; + skos:exactMatch UMLS:C1537396, + HGNC:18550, + HGNC_symbol:IER3IP1 ; biolink:category biolink:Gene . OMIM:609383 a owl:Class ; @@ -265115,24 +275194,25 @@ OMIM:609383 a owl:Class ; PMID:17557927 ; RO:0002525 CHR:9606chr5q33.3 ; RO:0003303 OMIM:612281 ; - oboInOwl:hasDbXref UMLS:C1836267 ; oboInOwl:hasExactSynonym "NIPAL4", "ichthyin", "nipa-like domain-containing 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348938 ; - skos:exactMatch HGNC_symbol:NIPAL4 ; + skos:exactMatch UMLS:C1836267, + HGNC:28018, + HGNC_symbol:NIPAL4 ; biolink:category biolink:Gene . OMIM:609384 a owl:Class ; rdfs:label "fibrosis of extraocular muscles, congenital, 3c" ; IAO:0000142 PMID:15744040 ; RO:0002525 CHR:9606chr13q12.11 ; - oboInOwl:hasDbXref UMLS:C2750404 ; oboInOwl:hasExactSynonym "CFEOM3C", "feom4 locus", "fibrosis of extraocular muscles, congenital, 3c" ; rdfs:subClassOf OMIMPS:135700 ; + skos:exactMatch UMLS:C2750404 ; biolink:category biolink:Disease . OMIM:609385 a owl:Class ; @@ -265143,12 +275223,13 @@ OMIM:609385 a owl:Class ; PMID:28297718, PMID:3860691, PMID:4692863 ; - oboInOwl:hasDbXref UMLS:C1428267 ; oboInOwl:hasExactSynonym "DND1", "dead end, zebrafish, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:373863 ; - skos:exactMatch HGNC_symbol:DND1 ; + skos:exactMatch UMLS:C1428267, + HGNC:23799, + HGNC_symbol:DND1 ; biolink:category biolink:Gene . OMIM:609386 a owl:Class ; @@ -265157,54 +275238,58 @@ OMIM:609386 a owl:Class ; PMID:19343044, PMID:26983541, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1822781 ; oboInOwl:hasExactSynonym "SMC5", "kiaa0594", "smc5-like 1", "structural maintenance of chromosomes 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23137 ; - skos:exactMatch HGNC_symbol:SMC5 ; + skos:exactMatch UMLS:C1822781, + HGNC:20465, + HGNC_symbol:SMC5 ; biolink:category biolink:Gene . OMIM:609387 a owl:Class ; rdfs:label "SMC6" ; IAO:0000142 PMID:15793567, PMID:26983541 ; - oboInOwl:hasDbXref UMLS:C1822782 ; oboInOwl:hasExactSynonym "SMC6", "smc6-like 1", "structural maintenance of chromosomes 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79677 ; - skos:exactMatch HGNC_symbol:SMC6 ; + skos:exactMatch UMLS:C1822782, + HGNC:20466, + HGNC_symbol:SMC6 ; biolink:category biolink:Gene . OMIM:609388 a owl:Class ; rdfs:label "METTL9" ; IAO:0000142 PMID:11132146, PMID:9809579 ; - oboInOwl:hasDbXref UMLS:C1825979 ; oboInOwl:hasExactSynonym "METTL9", "dora reverse strand", "methyltransferase-like 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51108 ; - skos:exactMatch HGNC_symbol:METTL9 ; + skos:exactMatch UMLS:C1825979, + HGNC:24586, + HGNC_symbol:METTL9 ; biolink:category biolink:Gene . OMIM:609389 a owl:Class ; rdfs:label "INPP5F" ; IAO:0000142 PMID:10231032, PMID:11274189 ; - oboInOwl:hasDbXref UMLS:C1424712 ; oboInOwl:hasExactSynonym "INPP5F", "inositol polyphosphate 5-phosphatase f", "kiaa0966", "sac domain-containing inositol phosphatase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22876 ; - skos:exactMatch HGNC_symbol:INPP5F ; + skos:exactMatch UMLS:C1424712, + HGNC:17054, + HGNC_symbol:INPP5F ; biolink:category biolink:Gene . OMIM:609390 a owl:Class ; @@ -265227,7 +275312,6 @@ OMIM:609390 a owl:Class ; PMID:9039502 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:216340 ; - oboInOwl:hasDbXref UMLS:C1424608 ; oboInOwl:hasExactSynonym "FIG4", "fig4 phosphoinositide 5-phosphatase", "fig4, s. cerevisiae, homolog of", @@ -265235,19 +275319,22 @@ OMIM:609390 a owl:Class ; "sac domain-containing inositol phosphatase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9896 ; - skos:exactMatch HGNC_symbol:FIG4 ; + skos:exactMatch UMLS:C1424608, + HGNC:16873, + HGNC_symbol:FIG4 ; biolink:category biolink:Gene . OMIM:609391 a owl:Class ; rdfs:label "SP5" ; IAO:0000142 PMID:15820306 ; - oboInOwl:hasDbXref UMLS:C1539807 ; oboInOwl:hasExactSynonym "SP5", "specificity protein 5", "transcription factor sp5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389058 ; - skos:exactMatch HGNC_symbol:SP5 ; + skos:exactMatch UMLS:C1539807, + HGNC:14529, + HGNC_symbol:SP5 ; biolink:category biolink:Gene . OMIM:609392 a owl:Class ; @@ -265257,13 +275344,14 @@ OMIM:609392 a owl:Class ; PMID:18391014, PMID:22711990, PMID:23716600 ; - oboInOwl:hasDbXref UMLS:C1424346 ; oboInOwl:hasExactSynonym "KLF3", "basic kruppel-like factor", "kruppel-like factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51274 ; - skos:exactMatch HGNC_symbol:KLF3 ; + skos:exactMatch UMLS:C1424346, + HGNC:16516, + HGNC_symbol:KLF3 ; biolink:category biolink:Gene . OMIM:609393 a owl:Class ; @@ -265271,26 +275359,28 @@ OMIM:609393 a owl:Class ; IAO:0000142 PMID:15820306, PMID:17480121, PMID:21572415 ; - oboInOwl:hasDbXref UMLS:C2700595 ; oboInOwl:hasExactSynonym "KLF14", "basic transcription element-binding protein 5", "kruppel-like factor 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136259 ; - skos:exactMatch HGNC_symbol:KLF14 ; + skos:exactMatch UMLS:C2700595, + HGNC:23025, + HGNC_symbol:KLF14 ; biolink:category biolink:Gene . OMIM:609394 a owl:Class ; rdfs:label "SPC24" ; IAO:0000142 PMID:14699129, PMID:14738735 ; - oboInOwl:hasDbXref UMLS:C1539814 ; oboInOwl:hasExactSynonym "SPC24", "spc24, ndc80 kinetochore complex component", "spindle pole body component 24, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147841 ; - skos:exactMatch HGNC_symbol:SPC24 ; + skos:exactMatch UMLS:C1539814, + HGNC:26913, + HGNC_symbol:SPC24 ; biolink:category biolink:Gene . OMIM:609395 a owl:Class ; @@ -265298,14 +275388,15 @@ OMIM:609395 a owl:Class ; IAO:0000142 PMID:14699129, PMID:14738735, PMID:15616564 ; - oboInOwl:hasDbXref UMLS:C1539815 ; oboInOwl:hasExactSynonym "SPC25", "spc25, ndc80 kinetochore complex component", "spc25, s. cerevisiae, homolog of", "spindle pole body component 25, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57405 ; - skos:exactMatch HGNC_symbol:SPC25 ; + skos:exactMatch UMLS:C1539815, + HGNC:24031, + HGNC_symbol:SPC25 ; biolink:category biolink:Gene . OMIM:609396 a owl:Class ; @@ -265317,7 +275408,6 @@ OMIM:609396 a owl:Class ; PMID:17553428, PMID:27477328, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1538638 ; oboInOwl:hasExactSynonym "PHLPP1", "kiaa0606", "ph domain and leucine-rich repeat protein phosphatase 1", @@ -265325,7 +275415,9 @@ OMIM:609396 a owl:Class ; "suprachiasmatic nucleus circadian oscillatory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23239 ; - skos:exactMatch HGNC_symbol:PHLPP1 ; + skos:exactMatch UMLS:C1538638, + HGNC:20610, + HGNC_symbol:PHLPP1 ; biolink:category biolink:Gene . OMIM:609397 a owl:Class ; @@ -265337,12 +275429,13 @@ OMIM:609397 a owl:Class ; PMID:20400461 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:609404 ; - oboInOwl:hasDbXref UMLS:C1539885 ; oboInOwl:hasExactSynonym "STOX1", "storkhead box 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219736 ; - skos:exactMatch HGNC_symbol:STOX1 ; + skos:exactMatch UMLS:C1539885, + HGNC:23508, + HGNC_symbol:STOX1 ; biolink:category biolink:Gene . OMIM:609398 a owl:Class ; @@ -265350,36 +275443,39 @@ OMIM:609398 a owl:Class ; IAO:0000142 PMID:11435709, PMID:14580332, PMID:15616564 ; - oboInOwl:hasDbXref UMLS:C1422038 ; oboInOwl:hasExactSynonym "ATP6V1D", "atp6m", "atpase, h+ transporting, lysosomal, 34-kd, v1 subunit d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51382 ; - skos:exactMatch HGNC_symbol:ATP6V1D ; + skos:exactMatch UMLS:C1422038, + HGNC:13527, + HGNC_symbol:ATP6V1D ; biolink:category biolink:Gene . OMIM:609399 a owl:Class ; rdfs:label "SPESP1" ; IAO:0000142 PMID:12773409 ; - oboInOwl:hasDbXref UMLS:C1423582 ; oboInOwl:hasExactSynonym "SPESP1", "sperm equatorial segment protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246777 ; - skos:exactMatch HGNC_symbol:SPESP1 ; + skos:exactMatch UMLS:C1423582, + HGNC:15570, + HGNC_symbol:SPESP1 ; biolink:category biolink:Gene . OMIM:609401 a owl:Class ; rdfs:label "HS6ST3" ; IAO:0000142 PMID:10644753, PMID:11991713 ; - oboInOwl:hasDbXref UMLS:C1426036 ; oboInOwl:hasExactSynonym "HS6ST3", "heparan sulfate 6-o-sulfotransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266722 ; - skos:exactMatch HGNC_symbol:HS6ST3 ; + skos:exactMatch UMLS:C1426036, + HGNC:19134, + HGNC_symbol:HS6ST3 ; biolink:category biolink:Gene . OMIM:609405 a owl:Class ; @@ -265388,28 +275484,30 @@ OMIM:609405 a owl:Class ; PMID:12944407, PMID:15064355, PMID:15225876 ; - oboInOwl:hasDbXref UMLS:C1412524 ; oboInOwl:hasExactSynonym "ARHGAP8", "bch domain-containing, proline-rich, and cdc42gap-like protein 1", "gtpase-activating protein, rho, 8", "rho gtpase-activating protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23779 ; - skos:exactMatch HGNC_symbol:ARHGAP8 ; + skos:exactMatch UMLS:C1412524, + HGNC:677, + HGNC_symbol:ARHGAP8 ; biolink:category biolink:Gene . OMIM:609406 a owl:Class ; rdfs:label "PRR5" ; IAO:0000142 PMID:15718101, PMID:17461779 ; - oboInOwl:hasDbXref UMLS:C1826712 ; oboInOwl:hasExactSynonym "PRR5", "pp610", "proline-rich protein 5", "protein observed with rictor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55615 ; - skos:exactMatch HGNC_symbol:PRR5 ; + skos:exactMatch UMLS:C1826712, + HGNC:31682, + HGNC_symbol:PRR5 ; biolink:category biolink:Gene . OMIM:609407 a owl:Class ; @@ -265417,14 +275515,15 @@ OMIM:609407 a owl:Class ; IAO:0000142 PMID:12138164, PMID:12740361, PMID:12907690 ; - oboInOwl:hasDbXref UMLS:C1426230 ; oboInOwl:hasExactSynonym "3ost5", "HS3ST5", "heparan sulfate (glucosamine) 3-o-sulfotransferase 5", "heparan sulfate-glucosamine 3-sulfotransferase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222537 ; - skos:exactMatch HGNC_symbol:HS3ST5 ; + skos:exactMatch UMLS:C1426230, + HGNC:19419, + HGNC_symbol:HS3ST5 ; biolink:category biolink:Gene . OMIM:609409 a owl:Class ; @@ -265432,13 +275531,14 @@ OMIM:609409 a owl:Class ; IAO:0000142 PMID:11161817, PMID:7585247, PMID:8325628 ; - oboInOwl:hasDbXref UMLS:C1415633 ; oboInOwl:hasExactSynonym "HNRNPA0", "heterogeneous nuclear ribonucleoprotein a0", "hnrpa0" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10949 ; - skos:exactMatch HGNC_symbol:HNRNPA0 ; + skos:exactMatch UMLS:C1415633, + HGNC:5030, + HGNC_symbol:HNRNPA0 ; biolink:category biolink:Gene . OMIM:609410 a owl:Class ; @@ -265451,20 +275551,20 @@ OMIM:609410 a owl:Class ; PMID:9205841, PMID:9388224, PMID:9636665 ; - oboInOwl:hasDbXref UMLS:C1420553 ; oboInOwl:hasExactSynonym "SYNJ2", "kiaa0348", "synaptojanin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8871 ; - skos:exactMatch HGNC_symbol:SYNJ2 ; + skos:exactMatch UMLS:C1420553, + HGNC:11504, + HGNC_symbol:SYNJ2 ; biolink:category biolink:Gene . OMIM:609411 a owl:Class ; rdfs:label "SYNJ2BP" ; IAO:0000142 PMID:10357812, PMID:11882656 ; - oboInOwl:hasDbXref UMLS:C1425923 ; oboInOwl:hasExactSynonym "SYNJ2BP", "activin receptor-interacting protein 2", "outer membrane protein, 25-kd", @@ -265472,7 +275572,9 @@ OMIM:609411 a owl:Class ; "synj2-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55333 ; - skos:exactMatch HGNC_symbol:SYNJ2BP ; + skos:exactMatch UMLS:C1425923, + HGNC:18955, + HGNC_symbol:SYNJ2BP ; biolink:category biolink:Gene . OMIM:609412 a owl:Class ; @@ -265493,14 +275595,15 @@ OMIM:609412 a owl:Class ; PMID:9338586 ; RO:0002525 CHR:9606chr5q12.1 ; RO:0003303 OMIM:614621 ; - oboInOwl:hasDbXref UMLS:C1414440 ; oboInOwl:hasExactSynonym "ERCC8", "ckn1 gene", "csa gene", "excision repair cross-complementing, group 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1161 ; - skos:exactMatch HGNC_symbol:ERCC8 ; + skos:exactMatch UMLS:C1414440, + HGNC:3439, + HGNC_symbol:ERCC8 ; biolink:category biolink:Gene . OMIM:609413 a owl:Class ; @@ -265546,16 +275649,6 @@ OMIM:609413 a owl:Class ; PMID:9777763 ; RO:0002525 CHR:9606chr10q11.23 ; RO:0003303 OMIM:613761 ; - oboInOwl:hasDbXref UMLS:C0220722, - UMLS:C0265201, - UMLS:C0751038, - UMLS:C1366757, - UMLS:C1426221, - UMLS:C2674950, - UMLS:C3551173, - UMLS:C4015968, - UMLS:C4017197, - UMLS:C4310783 ; oboInOwl:hasExactSynonym "ERCC6", "csb gene", "csb/pgbd3 protein", @@ -265568,7 +275661,18 @@ OMIM:609413 a owl:Class ; "rad26, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2074 ; - skos:exactMatch HGNC_symbol:ERCC6 ; + skos:exactMatch UMLS:C0220722, + UMLS:C0265201, + UMLS:C0751038, + UMLS:C1366757, + UMLS:C1426221, + UMLS:C2674950, + UMLS:C3551173, + UMLS:C4015968, + UMLS:C4017197, + UMLS:C4310783, + HGNC:3438, + HGNC_symbol:ERCC6 ; biolink:category biolink:Gene . OMIM:609414 a owl:Class ; @@ -265594,7 +275698,6 @@ OMIM:609414 a owl:Class ; PMID:9858586 ; RO:0002525 CHR:9606chr2q34 ; RO:0003303 OMIM:121850 ; - oboInOwl:hasDbXref UMLS:C1428258 ; oboInOwl:hasExactSynonym "PIKFYVE", "fab1, s. cerevisiae, homolog of", "kiaa0981", @@ -265602,7 +275705,9 @@ OMIM:609414 a owl:Class ; "phosphoinositide kinase, fyve finger-containing" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200576 ; - skos:exactMatch HGNC_symbol:PIKFYVE ; + skos:exactMatch UMLS:C1428258, + HGNC:23785, + HGNC_symbol:PIKFYVE ; biolink:category biolink:Gene . OMIM:609415 a owl:Class ; @@ -265617,7 +275722,6 @@ OMIM:609415 a owl:Class ; PMID:20008935, PMID:20639536, PMID:21892160 ; - oboInOwl:hasDbXref UMLS:C1539033 ; oboInOwl:hasExactSynonym "MIR17HG", "chromosome 13 open reading frame 25", "micro RNA 17 host gene", @@ -265629,35 +275733,39 @@ OMIM:609415 a owl:Class ; "oncomir1 host gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407975 ; - skos:exactMatch HGNC_symbol:MIR17HG ; + skos:exactMatch UMLS:C1539033, + HGNC:23564, + HGNC_symbol:MIR17HG ; biolink:category biolink:Gene . OMIM:609417 a owl:Class ; rdfs:label "MIR18A" ; IAO:0000142 PMID:15126345, PMID:18974142 ; - oboInOwl:hasDbXref UMLS:C1825996 ; oboInOwl:hasExactSynonym "MIR18A", "micro RNA 18a", "mirn18a", "mirna18a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406953 ; - skos:exactMatch HGNC_symbol:MIR18A ; + skos:exactMatch UMLS:C1825996, + HGNC:31548, + HGNC_symbol:MIR18A ; biolink:category biolink:Gene . OMIM:609418 a owl:Class ; rdfs:label "MIR19A" ; IAO:0000142 PMID:15126345, PMID:18460397 ; - oboInOwl:hasDbXref UMLS:C1537715 ; oboInOwl:hasExactSynonym "MIR19A", "micro RNA 19a", "mirn19a", "mirna19a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406979 ; - skos:exactMatch HGNC_symbol:MIR19A ; + skos:exactMatch UMLS:C1537715, + HGNC:31574, + HGNC_symbol:MIR19A ; biolink:category biolink:Gene . OMIM:609419 a owl:Class ; @@ -265665,14 +275773,15 @@ OMIM:609419 a owl:Class ; IAO:0000142 PMID:15126345, PMID:20008935, PMID:21642990 ; - oboInOwl:hasDbXref UMLS:C1537716 ; oboInOwl:hasExactSynonym "MIR19B1", "micro RNA 19b1", "mirn19b1", "mirna19b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406980 ; - skos:exactMatch HGNC_symbol:MIR19B1 ; + skos:exactMatch UMLS:C1537716, + HGNC:31575, + HGNC_symbol:MIR19B1 ; biolink:category biolink:Gene . OMIM:609420 a owl:Class ; @@ -265684,14 +275793,15 @@ OMIM:609420 a owl:Class ; PMID:18836483, PMID:18941111, PMID:21642990 ; - oboInOwl:hasDbXref UMLS:C1825998 ; oboInOwl:hasExactSynonym "MIR20A", "micro RNA 20a", "mirn20a", "mirna20a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406982 ; - skos:exactMatch HGNC_symbol:MIR20A ; + skos:exactMatch UMLS:C1825998, + HGNC:31577, + HGNC_symbol:MIR20A ; biolink:category biolink:Gene . OMIM:609421 a owl:Class ; @@ -265706,7 +275816,6 @@ OMIM:609422 a owl:Class ; PMID:21642990, PMID:23355465, PMID:23644454 ; - oboInOwl:hasDbXref UMLS:C1537748 ; oboInOwl:hasExactSynonym "MIR92A1", "micro RNA 92a1", "mir92-1", @@ -265716,7 +275825,9 @@ OMIM:609422 a owl:Class ; "mirna92a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407048 ; - skos:exactMatch HGNC_symbol:MIR92A1 ; + skos:exactMatch UMLS:C1537748, + HGNC:31643, + HGNC_symbol:MIR92A1 ; biolink:category biolink:Gene . OMIM:609424 a owl:Class ; @@ -265731,15 +275842,16 @@ OMIM:609424 a owl:Class ; PMID:31636267 ; RO:0002525 CHR:9606chr1q25.1 ; RO:0003303 OMIM:618998 ; - oboInOwl:hasDbXref UMLS:C1826784, - UMLS:C5436563 ; oboInOwl:hasExactSynonym "RC3H1", "kiaa2025", "ring finger and ccch-type zinc finger domains-containing 1", "roquin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149041 ; - skos:exactMatch HGNC_symbol:RC3H1 ; + skos:exactMatch UMLS:C1826784, + UMLS:C5436563, + HGNC:29434, + HGNC_symbol:RC3H1 ; biolink:category biolink:Gene . OMIM:609425 a owl:Class ; @@ -265751,9 +275863,9 @@ OMIM:609425 a owl:Class ; PMID:20830797, PMID:21844811 ; RO:0002525 CHR:9606chr3q29 ; - oboInOwl:hasDbXref UMLS:C2674949 ; oboInOwl:hasExactSynonym "chromosome 3q29 deletion syndrome", "microdeletion 3q29 syndrome" ; + skos:exactMatch UMLS:C2674949 ; biolink:category biolink:Disease . OMIM:609426 a owl:Class ; @@ -265762,14 +275874,15 @@ OMIM:609426 a owl:Class ; PMID:12087176, PMID:15469942, PMID:15608642 ; - oboInOwl:hasDbXref UMLS:C1537698 ; oboInOwl:hasExactSynonym "MINK1", "mink", "misshapen/nik-related kinase 1", "mitogen-activated protein kinase kinase kinase kinase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50488 ; - skos:exactMatch HGNC_symbol:MINK1 ; + skos:exactMatch UMLS:C1537698, + HGNC:17565, + HGNC_symbol:MINK1 ; biolink:category biolink:Gene . OMIM:609427 a owl:Class ; @@ -265779,25 +275892,27 @@ OMIM:609427 a owl:Class ; PMID:16752389 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:610265 ; - oboInOwl:hasDbXref UMLS:C1427457 ; oboInOwl:hasExactSynonym "LHFPL5", "lhfp-like protein 5", "lhfpl tetraspan subfamily, member 5", "tetraspan membrane protein of hair cell stereocilia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222662 ; - skos:exactMatch HGNC_symbol:LHFPL5 ; + skos:exactMatch UMLS:C1427457, + HGNC:21253, + HGNC_symbol:LHFPL5 ; biolink:category biolink:Gene . OMIM:609429 a owl:Class ; rdfs:label "FOXN4" ; IAO:0000142 PMID:15363391 ; - oboInOwl:hasDbXref UMLS:C1427544 ; oboInOwl:hasExactSynonym "FOXN4", "forkhead box n4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121643 ; - skos:exactMatch HGNC_symbol:FOXN4 ; + skos:exactMatch UMLS:C1427544, + HGNC:21399, + HGNC_symbol:FOXN4 ; biolink:category biolink:Gene . OMIM:609430 a owl:Class ; @@ -265806,13 +275921,14 @@ OMIM:609430 a owl:Class ; PMID:12746393, PMID:16172381, PMID:19581591 ; - oboInOwl:hasDbXref UMLS:C1426157 ; oboInOwl:hasExactSynonym "NPAS3", "member of pas superfamily 6", "neuronal pas domain protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64067 ; - skos:exactMatch HGNC_symbol:NPAS3 ; + skos:exactMatch UMLS:C1426157, + HGNC:19311, + HGNC_symbol:NPAS3 ; biolink:category biolink:Gene . OMIM:609431 a owl:Class ; @@ -265820,13 +275936,14 @@ OMIM:609431 a owl:Class ; IAO:0000142 PMID:10801814, PMID:18838386, PMID:24714694 ; - oboInOwl:hasDbXref UMLS:C1426932 ; oboInOwl:hasExactSynonym "MBIP", "map3k12-binding inhibitory protein", "muk-binding inhibitory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51562 ; - skos:exactMatch HGNC_symbol:MBIP ; + skos:exactMatch UMLS:C1426932, + HGNC:20427, + HGNC_symbol:MBIP ; biolink:category biolink:Gene . OMIM:609433 a owl:Class ; @@ -265835,20 +275952,20 @@ OMIM:609433 a owl:Class ; PMID:17525340, PMID:17525341, PMID:17525342 ; - oboInOwl:hasDbXref UMLS:C1823597 ; oboInOwl:hasExactSynonym "UIMC1", "receptor-associated protein, 80-kd", "ubiquitin interaction motif-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51720 ; - skos:exactMatch HGNC_symbol:UIMC1 ; + skos:exactMatch UMLS:C1823597, + HGNC:30298, + HGNC_symbol:UIMC1 ; biolink:category biolink:Gene . OMIM:609434 a owl:Class ; rdfs:label "LUC7L3" ; IAO:0000142 PMID:10631324, PMID:12565863 ; - oboInOwl:hasDbXref UMLS:C1836205 ; oboInOwl:hasExactSynonym "LUC7L3", "cisplatin resistance-associated overexpressed protein", "luc7, s. cerevisiae, homolog of, 3", @@ -265857,7 +275974,9 @@ OMIM:609434 a owl:Class ; "luc7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51747 ; - skos:exactMatch HGNC_symbol:LUC7L3 ; + skos:exactMatch UMLS:C1836205, + HGNC:24309, + HGNC_symbol:LUC7L3 ; biolink:category biolink:Gene . OMIM:609435 a owl:Class ; @@ -265876,14 +275995,15 @@ OMIM:609435 a owl:Class ; PMID:25901006 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:607464 ; - oboInOwl:hasDbXref UMLS:C1826393 ; oboInOwl:hasExactSynonym "NDUFA13", "gene associated with retinoid- and interferon-induced mortality 19", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex 13", "nadh-ubiquinone oxidoreductase subunit a13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51079 ; - skos:exactMatch HGNC_symbol:NDUFA13 ; + skos:exactMatch UMLS:C1826393, + HGNC:17194, + HGNC_symbol:NDUFA13 ; biolink:category biolink:Gene . OMIM:609436 a owl:Class ; @@ -265898,53 +276018,56 @@ OMIM:609436 a owl:Class ; PMID:22304921, PMID:28199304, PMID:29342135 ; - oboInOwl:hasDbXref UMLS:C1333538 ; oboInOwl:hasExactSynonym "FGF21", "fibroblast growth factor 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26291 ; - skos:exactMatch HGNC_symbol:FGF21 ; + skos:exactMatch UMLS:C1333538, + HGNC:3678, + HGNC_symbol:FGF21 ; biolink:category biolink:Gene . OMIM:609437 a owl:Class ; rdfs:label "STK40" ; IAO:0000142 PMID:13679039 ; - oboInOwl:hasDbXref UMLS:C1823134 ; oboInOwl:hasExactSynonym "STK40", "serine/threonine protein kinase 40", "sink-homologous inhibitory kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83931 ; - skos:exactMatch HGNC_symbol:STK40 ; + skos:exactMatch UMLS:C1823134, + HGNC:21373, + HGNC_symbol:STK40 ; biolink:category biolink:Gene . OMIM:609438 a owl:Class ; rdfs:label "mental retardation, keratoconus, febrile seizures, and sinoatrial block" ; IAO:0000142 PMID:15811017 ; - oboInOwl:hasDbXref UMLS:C1836202 ; - oboInOwl:hasExactSynonym "mental retardation, keratoconus, febrile seizures, and sinoatrial block" . + oboInOwl:hasExactSynonym "mental retardation, keratoconus, febrile seizures, and sinoatrial block" ; + skos:exactMatch UMLS:C1836202 . OMIM:609439 a owl:Class ; rdfs:label "deafness, autosomal recessive 48" ; IAO:0000142 PMID:15711797, PMID:18505454, PMID:23023331 ; - oboInOwl:hasDbXref UMLS:C1836199 ; oboInOwl:hasExactSynonym "DFNB48", "deafness, autosomal recessive 48" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1836199 ; biolink:category biolink:Disease . OMIM:609440 a owl:Class ; rdfs:label "UTP11L" ; IAO:0000142 PMID:11860508 ; - oboInOwl:hasDbXref UMLS:C1823609 ; oboInOwl:hasExactSynonym "UTP11L", "cgi94", "utp11-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51118 ; - skos:exactMatch HGNC_symbol:UTP11 ; + skos:exactMatch UMLS:C1823609, + HGNC:24329, + HGNC_symbol:UTP11 ; biolink:category biolink:Gene . OMIM:609441 a owl:Class ; @@ -265952,12 +276075,12 @@ OMIM:609441 a owl:Class ; IAO:0000142 PMID:15805157, PMID:24129431, PMID:26105076 ; - oboInOwl:hasDbXref UMLS:C4225404 ; oboInOwl:hasExactSynonym "AMD3", "acromesomelic dysplasia 3", "acromesomelic dysplasia, demirhan iia", "chondrodysplasia, acromesomelic, with or without genital anomalies" ; rdfs:subClassOf OMIMPS:602875 ; + skos:exactMatch UMLS:C4225404 ; biolink:category biolink:Disease . OMIM:609442 a owl:Class ; @@ -265967,11 +276090,11 @@ OMIM:609442 a owl:Class ; PMID:3123693, PMID:3125743, PMID:8544193 ; - oboInOwl:hasDbXref UMLS:C0236026, - UMLS:C1876218, - ORPHA:1906 ; oboInOwl:hasExactSynonym "fetal valproate syndrome", - "valproate embryopathy, susceptibility to" . + "valproate embryopathy, susceptibility to" ; + skos:exactMatch UMLS:C0236026, + UMLS:C1876218, + ORPHA:1906 . OMIM:609443 a owl:Class ; rdfs:label "CELA2A" ; @@ -265980,34 +276103,35 @@ OMIM:609443 a owl:Class ; PMID:3646943 ; RO:0002525 CHR:9606chr1p36.21 ; RO:0003303 OMIM:618620 ; - oboInOwl:hasDbXref UMLS:C1836181 ; oboInOwl:hasExactSynonym "CELA2A", "chymotrypsin-like elastase family, member 2a", "elastase 2a", "pancreatic elastase 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63036 ; - skos:exactMatch HGNC_symbol:CELA2A ; + skos:exactMatch UMLS:C1836181, + HGNC:24609, + HGNC_symbol:CELA2A ; biolink:category biolink:Gene . OMIM:609444 a owl:Class ; rdfs:label "CELA2B" ; IAO:0000142 PMID:3646943 ; - oboInOwl:hasDbXref UMLS:C1836180 ; oboInOwl:hasExactSynonym "CELA2B", "chymotrypsin-like elastase family, member 2b", "elastase 2b", "pancreatic elastase 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51032 ; - skos:exactMatch HGNC_symbol:CELA2B ; + skos:exactMatch UMLS:C1836180, + HGNC:29995, + HGNC_symbol:CELA2B ; biolink:category biolink:Gene . OMIM:609445 a owl:Class ; rdfs:label "RXFP3" ; IAO:0000142 PMID:10806363, PMID:14522968 ; - oboInOwl:hasDbXref UMLS:C1812639 ; oboInOwl:hasExactSynonym "RXFP3", "g protein-coupled receptor 135", "relaxin 3 receptor 1", @@ -266016,7 +276140,9 @@ OMIM:609445 a owl:Class ; "somatostatin- and angiotensin-like peptide receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51289 ; - skos:exactMatch HGNC_symbol:RXFP3 ; + skos:exactMatch UMLS:C1812639, + HGNC:24883, + HGNC_symbol:RXFP3 ; biolink:category biolink:Gene . OMIM:609446 a owl:Class ; @@ -266025,10 +276151,10 @@ OMIM:609446 a owl:Class ; PMID:12366739, PMID:15937479, PMID:26195193 ; - oboInOwl:hasDbXref UMLS:C1836173 ; oboInOwl:hasExactSynonym "PNKD3", "generalized epilepsy and paroxysmal dyskinesia", "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" ; + skos:exactMatch UMLS:C1836173 ; biolink:category biolink:Disease . OMIM:609447 a owl:Class ; @@ -266036,21 +276162,21 @@ OMIM:609447 a owl:Class ; IAO:0000142 PMID:11350957, PMID:12792799, PMID:21093319 ; - oboInOwl:hasDbXref UMLS:C1836172 ; oboInOwl:hasExactSynonym "MZB1", "marginal zone B and b1 cell-specific protein", "mgc29506", "proapoptotic caspase adaptor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51237 ; - skos:exactMatch HGNC_symbol:MZB1 ; + skos:exactMatch UMLS:C1836172, + HGNC:30125, + HGNC_symbol:MZB1 ; biolink:category biolink:Gene . OMIM:609448 a owl:Class ; rdfs:label "TXNDC12" ; IAO:0000142 PMID:12761212, PMID:14557066 ; - oboInOwl:hasDbXref UMLS:C1836171 ; oboInOwl:hasExactSynonym "TXNDC12", "anterior gradient 1, xenopus, homolog of", "endoplasmic reticulum protein, 18-kd", @@ -266058,7 +276184,9 @@ OMIM:609448 a owl:Class ; "thioredoxin-like protein p19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51060 ; - skos:exactMatch HGNC_symbol:TXNDC12 ; + skos:exactMatch UMLS:C1836171, + HGNC:24626, + HGNC_symbol:TXNDC12 ; biolink:category biolink:Gene . OMIM:609449 a owl:Class ; @@ -266075,7 +276203,6 @@ OMIM:609449 a owl:Class ; PMID:22526350 ; RO:0002525 CHR:9606chr16p13.11 ; RO:0003303 OMIM:614019 ; - oboInOwl:hasDbXref UMLS:C1425014 ; oboInOwl:hasExactSynonym "NDE1", "hom-tes-87", "nude", @@ -266083,19 +276210,22 @@ OMIM:609449 a owl:Class ; "nude, a. nidulans, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54820 ; - skos:exactMatch HGNC_symbol:NDE1 ; + skos:exactMatch UMLS:C1425014, + HGNC:17619, + HGNC_symbol:NDE1 ; biolink:category biolink:Gene . OMIM:609450 a owl:Class ; rdfs:label "MXD3" ; IAO:0000142 PMID:11154258 ; - oboInOwl:hasDbXref UMLS:C1422344 ; oboInOwl:hasExactSynonym "MXD3", "mad3", "max dimerization protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83463 ; - skos:exactMatch HGNC_symbol:MXD3 ; + skos:exactMatch UMLS:C1422344, + HGNC:14008, + HGNC_symbol:MXD3 ; biolink:category biolink:Gene . OMIM:609451 a owl:Class ; @@ -266103,7 +276233,6 @@ OMIM:609451 a owl:Class ; IAO:0000142 PMID:11853319, PMID:23543754, PMID:7576184 ; - oboInOwl:hasDbXref UMLS:C1428038 ; oboInOwl:hasExactSynonym "ZFP90", "foxp3-interacting krab domain-containing protein", "kiaa1954", @@ -266112,21 +276241,24 @@ OMIM:609451 a owl:Class ; "zinc finger protein 90, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146198 ; - skos:exactMatch HGNC_symbol:ZFP90 ; + skos:exactMatch UMLS:C1428038, + HGNC:23329, + HGNC_symbol:ZFP90 ; biolink:category biolink:Gene . OMIM:609453 a owl:Class ; rdfs:label "GOLGA7" ; IAO:0000142 PMID:14522980, PMID:16000296 ; - oboInOwl:hasDbXref UMLS:C1428422 ; oboInOwl:hasExactSynonym "GOLGA7", "golgi autoantigen, golgin subfamily a, 7", "golgi complex-associated protein, 16-kd", "golgin a7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51125 ; - skos:exactMatch HGNC_symbol:GOLGA7 ; + skos:exactMatch UMLS:C1428422, + HGNC:24876, + HGNC_symbol:GOLGA7 ; biolink:category biolink:Gene . OMIM:609455 a owl:Class ; @@ -266137,13 +276269,14 @@ OMIM:609455 a owl:Class ; PMID:15456770, PMID:22190735, PMID:27626385 ; - oboInOwl:hasDbXref UMLS:C1826567 ; oboInOwl:hasExactSynonym "PELP1", "mnar", "proline-, glutamic acid-, and leucine-rich protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27043 ; - skos:exactMatch HGNC_symbol:PELP1 ; + skos:exactMatch UMLS:C1826567, + HGNC:30134, + HGNC_symbol:PELP1 ; biolink:category biolink:Gene . OMIM:609457 a owl:Class ; @@ -266158,14 +276291,15 @@ OMIM:609457 a owl:Class ; PMID:8530107 ; RO:0002525 CHR:9606chr12q23.1 ; RO:0003303 OMIM:235800 ; - oboInOwl:hasDbXref UMLS:C0220992, - UMLS:C1415465 ; oboInOwl:hasExactSynonym "HAL", "histidase", "histidine ammonia-lyase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3034 ; - skos:exactMatch HGNC_symbol:HAL ; + skos:exactMatch UMLS:C0220992, + UMLS:C1415465, + HGNC:4806, + HGNC_symbol:HAL ; biolink:category biolink:Gene . OMIM:609458 a owl:Class ; @@ -266195,26 +276329,28 @@ OMIM:609458 a owl:Class ; PMID:9915946 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:248500 ; - oboInOwl:hasDbXref UMLS:C1416997 ; oboInOwl:hasExactSynonym "MAN2B1", "laman", "mannosidase, alpha b, lysosomal", "mannosidase, alpha, class 2b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4125 ; - skos:exactMatch HGNC_symbol:MAN2B1 ; + skos:exactMatch UMLS:C1416997, + HGNC:6826, + HGNC_symbol:MAN2B1 ; biolink:category biolink:Gene . OMIM:609459 a owl:Class ; rdfs:label "DGCR6L" ; IAO:0000142 PMID:11157784, PMID:15821931 ; - oboInOwl:hasDbXref UMLS:C1425592 ; oboInOwl:hasExactSynonym "DGCR6L", "digeorge syndrome critical region gene 6-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85359 ; - skos:exactMatch HGNC_symbol:DGCR6L ; + skos:exactMatch UMLS:C1425592, + HGNC:18551, + HGNC_symbol:DGCR6L ; biolink:category biolink:Gene . OMIM:609461 a owl:Class ; @@ -266225,7 +276361,6 @@ OMIM:609461 a owl:Class ; PMID:23515163, PMID:23884858, PMID:9342215 ; - oboInOwl:hasDbXref UMLS:C1540053 ; oboInOwl:hasExactSynonym "TRIB1", "c8fw", "skip1", @@ -266234,7 +276369,9 @@ OMIM:609461 a owl:Class ; "tribbles, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10221 ; - skos:exactMatch HGNC_symbol:TRIB1 ; + skos:exactMatch UMLS:C1540053, + HGNC:16891, + HGNC_symbol:TRIB1 ; biolink:category biolink:Gene . OMIM:609462 a owl:Class ; @@ -266242,7 +276379,6 @@ OMIM:609462 a owl:Class ; IAO:0000142 PMID:12736262, PMID:15299019, PMID:9342215 ; - oboInOwl:hasDbXref UMLS:C1540054 ; oboInOwl:hasExactSynonym "TRIB2", "c5fw", "gs3955", @@ -266251,7 +276387,9 @@ OMIM:609462 a owl:Class ; "tribbles, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28951 ; - skos:exactMatch HGNC_symbol:TRIB2 ; + skos:exactMatch UMLS:C1540054, + HGNC:30809, + HGNC_symbol:TRIB2 ; biolink:category biolink:Gene . OMIM:609463 a owl:Class ; @@ -266261,7 +276399,6 @@ OMIM:609463 a owl:Class ; PMID:15951419, PMID:16204380, PMID:20607705 ; - oboInOwl:hasDbXref UMLS:C1537922 ; oboInOwl:hasExactSynonym "MRTFB", "mkl/myocardin-like 2", "mkl2/c11orf95 fusion gene", @@ -266269,7 +276406,9 @@ OMIM:609463 a owl:Class ; "myocardin-related transcription factor b, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57496 ; - skos:exactMatch HGNC_symbol:MRTFB ; + skos:exactMatch UMLS:C1537922, + HGNC:29819, + HGNC_symbol:MRTFB ; biolink:category biolink:Gene . OMIM:609464 a owl:Class ; @@ -266283,27 +276422,28 @@ OMIM:609465 a owl:Class ; PMID:25149931, PMID:29443383, PMID:7981860 ; - oboInOwl:hasDbXref UMLS:C1836121, - ORPHA:2725 ; oboInOwl:hasExactSynonym "ALGAZ", "al-gazali syndrome" ; + skos:exactMatch UMLS:C1836121, + ORPHA:2725 ; biolink:category biolink:Disease . OMIM:609466 a owl:Class ; rdfs:label "cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss" ; IAO:0000142 PMID:15057120 ; - oboInOwl:hasDbXref UMLS:C1836120 ; - oboInOwl:hasExactSynonym "cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss" . + oboInOwl:hasExactSynonym "cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss" ; + skos:exactMatch UMLS:C1836120 . OMIM:609468 a owl:Class ; rdfs:label "CCL3L3" ; IAO:0000142 PMID:15028295 ; - oboInOwl:hasDbXref UMLS:C1824661 ; oboInOwl:hasExactSynonym "CCL3L3", "chemokine, cc motif, ligand 3-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:414062 ; - skos:exactMatch HGNC_symbol:CCL3L3 ; + skos:exactMatch UMLS:C1824661, + HGNC:30554, + HGNC_symbol:CCL3L3 ; biolink:category biolink:Gene . OMIM:609471 a owl:Class ; @@ -266318,7 +276458,6 @@ OMIM:609471 a owl:Class ; PMID:24252062 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:614409 ; - oboInOwl:hasDbXref UMLS:C1425933 ; oboInOwl:hasExactSynonym "GBA2", "beta-glucosidase, bile acid", "bile acid beta-glucosidase", @@ -266327,19 +276466,22 @@ OMIM:609471 a owl:Class ; "kiaa1605" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57704 ; - skos:exactMatch HGNC_symbol:GBA2 ; + skos:exactMatch UMLS:C1425933, + HGNC:18986, + HGNC_symbol:GBA2 ; biolink:category biolink:Gene . OMIM:609472 a owl:Class ; rdfs:label "CNGA4" ; IAO:0000142 PMID:11739959, PMID:15134638 ; - oboInOwl:hasDbXref UMLS:C1413547 ; oboInOwl:hasExactSynonym "CNGA4", "cyclic nucleotide-gated channel, alpha-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1262 ; - skos:exactMatch HGNC_symbol:CNGA4 ; + skos:exactMatch UMLS:C1413547, + HGNC:2152, + HGNC_symbol:CNGA4 ; biolink:category biolink:Gene . OMIM:609473 a owl:Class ; @@ -266348,27 +276490,29 @@ OMIM:609473 a owl:Class ; PMID:11042084, PMID:12023291, PMID:15866167 ; - oboInOwl:hasDbXref UMLS:C1424964 ; oboInOwl:hasExactSynonym "CGN", "cingulin", "cingulin, xenopus, homolog of", "kiaa1319" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57530 ; - skos:exactMatch HGNC_symbol:CGN ; + skos:exactMatch UMLS:C1424964, + HGNC:17429, + HGNC_symbol:CGN ; biolink:category biolink:Gene . OMIM:609474 a owl:Class ; rdfs:label "NPTXR" ; IAO:0000142 PMID:10748068, PMID:9261167 ; - oboInOwl:hasDbXref UMLS:C1417814 ; oboInOwl:hasExactSynonym "NPTXR", "neuronal pentraxin receptor", "npr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23467 ; - skos:exactMatch HGNC_symbol:NPTXR ; + skos:exactMatch UMLS:C1417814, + HGNC:7954, + HGNC_symbol:NPTXR ; biolink:category biolink:Gene . OMIM:609475 a owl:Class ; @@ -266377,7 +276521,6 @@ OMIM:609475 a owl:Class ; PMID:10748171, PMID:10761695, PMID:16391387 ; - oboInOwl:hasDbXref UMLS:C1428900 ; oboInOwl:hasExactSynonym "AKAP8L", "a-kinase anchor protein 8-like protein", "akap8-like protein", @@ -266386,7 +276529,9 @@ OMIM:609475 a owl:Class ; "neighbor of akap95" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26993 ; - skos:exactMatch HGNC_symbol:AKAP8L ; + skos:exactMatch UMLS:C1428900, + HGNC:29857, + HGNC_symbol:AKAP8L ; biolink:category biolink:Gene . OMIM:609476 a owl:Class ; @@ -266397,39 +276542,42 @@ OMIM:609476 a owl:Class ; PMID:12901858, PMID:16714285, PMID:9448268 ; - oboInOwl:hasDbXref UMLS:C1428901 ; oboInOwl:hasExactSynonym "NLK", "nemo-like kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51701 ; - skos:exactMatch HGNC_symbol:NLK ; + skos:exactMatch UMLS:C1428901, + HGNC:29858, + HGNC_symbol:NLK ; biolink:category biolink:Gene . OMIM:609477 a owl:Class ; rdfs:label "SMCO4" ; IAO:0000142 PMID:10863097 ; - oboInOwl:hasDbXref UMLS:C1824341 ; oboInOwl:hasExactSynonym "SMCO4", "chromosome 11 open reading frame 75", "fn5, pufferfish, homolog of", "single-pass membrane protein with coiled-coil domains 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56935 ; - skos:exactMatch HGNC_symbol:SMCO4 ; + skos:exactMatch UMLS:C1824341, + HGNC:24810, + HGNC_symbol:SMCO4 ; biolink:category biolink:Gene . OMIM:609478 a owl:Class ; rdfs:label "ST8SIA3" ; IAO:0000142 PMID:10766765, PMID:9826427 ; - oboInOwl:hasDbXref UMLS:C1539875 ; oboInOwl:hasExactSynonym "ST8SIA3", "alpha-2,8-sialyltransferase 3", "st8 alpha-n-acetyl-neuraminide alpha-2,8-sialyltransferase 3", "st8sia 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51046 ; - skos:exactMatch HGNC_symbol:ST8SIA3 ; + skos:exactMatch UMLS:C1539875, + HGNC:14269, + HGNC_symbol:ST8SIA3 ; biolink:category biolink:Gene . OMIM:609479 a owl:Class ; @@ -266446,14 +276594,15 @@ OMIM:609479 a owl:Class ; PMID:27816943 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:616890 ; - oboInOwl:hasDbXref UMLS:C1868689 ; oboInOwl:hasExactSynonym "ZAK", "leucine zipper- and sterile alpha motif-containing kinase", "mlk-like mitogen-activated protein triple kinase", "mlk-related kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51776 ; - skos:exactMatch HGNC_symbol:MAP3K20 ; + skos:exactMatch UMLS:C1868689, + HGNC:17797, + HGNC_symbol:MAP3K20 ; biolink:category biolink:Gene . OMIM:609480 a owl:Class ; @@ -266466,39 +276615,42 @@ OMIM:609481 a owl:Class ; PMID:15048808, PMID:15537545, PMID:7528105 ; - oboInOwl:hasDbXref UMLS:C1425576 ; oboInOwl:hasExactSynonym "ISL2", "isl2 transcription factor, lim/homeodomain", "islet 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64843 ; - skos:exactMatch HGNC_symbol:ISL2 ; + skos:exactMatch UMLS:C1425576, + HGNC:18524, + HGNC_symbol:ISL2 ; biolink:category biolink:Gene . OMIM:609482 a owl:Class ; rdfs:label "AGR3" ; IAO:0000142 PMID:12477722, PMID:12592373 ; - oboInOwl:hasDbXref UMLS:C1836117 ; oboInOwl:hasExactSynonym "AGR3", "anterior gradient 3, protein disulphide isomerase family member", "anterior gradient 3, xenopus, homolog of", "breast cancer membrane protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155465 ; - skos:exactMatch HGNC_symbol:AGR3 ; + skos:exactMatch UMLS:C1836117, + HGNC:24167, + HGNC_symbol:AGR3 ; biolink:category biolink:Gene . OMIM:609483 a owl:Class ; rdfs:label "FAM84B" ; IAO:0000142 PMID:12477722 ; - oboInOwl:hasDbXref UMLS:C1825170 ; oboInOwl:hasExactSynonym "FAM84B", "breast cancer membrane protein 101", "family with sequence similarity 84, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157638 ; - skos:exactMatch HGNC_symbol:LRATD2 ; + skos:exactMatch UMLS:C1825170, + HGNC:24166, + HGNC_symbol:LRATD2 ; biolink:category biolink:Gene . OMIM:609484 a owl:Class ; @@ -266506,21 +276658,21 @@ OMIM:609484 a owl:Class ; IAO:0000142 PMID:11179665, PMID:12592373, PMID:15012588 ; - oboInOwl:hasDbXref UMLS:C1825918 ; oboInOwl:hasExactSynonym "LYPD3", "c4.4a", "gpi-anchored metastasis-associated protein c4.4a", "ly6/plaur domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27076 ; - skos:exactMatch HGNC_symbol:LYPD3 ; + skos:exactMatch UMLS:C1825918, + HGNC:24880, + HGNC_symbol:LYPD3 ; biolink:category biolink:Gene . OMIM:609485 a owl:Class ; rdfs:label "MOAP1" ; IAO:0000142 PMID:11060313, PMID:15949439 ; - oboInOwl:hasDbXref UMLS:C1424473 ; oboInOwl:hasExactSynonym "MOAP1", "map1", "modulator of apoptosis 1", @@ -266528,20 +276680,23 @@ OMIM:609485 a owl:Class ; "paraneoplastic ma antigen family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64112 ; - skos:exactMatch HGNC_symbol:MOAP1 ; + skos:exactMatch UMLS:C1424473, + HGNC:16658, + HGNC_symbol:MOAP1 ; biolink:category biolink:Gene . OMIM:609486 a owl:Class ; rdfs:label "EAPP" ; IAO:0000142 PMID:15716352, PMID:15820313 ; - oboInOwl:hasDbXref UMLS:C1426158 ; oboInOwl:hasExactSynonym "EAPP", "chromosome 14 open reading frame 11", "e2f-associated phosphoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55837 ; - skos:exactMatch HGNC_symbol:EAPP ; + skos:exactMatch UMLS:C1426158, + HGNC:19312, + HGNC_symbol:EAPP ; biolink:category biolink:Gene . OMIM:609487 a owl:Class ; @@ -266553,24 +276708,26 @@ OMIM:609487 a owl:Class ; PMID:16001074, PMID:24847881, PMID:8621389 ; - oboInOwl:hasDbXref UMLS:C1417013 ; oboInOwl:hasExactSynonym "MAP3K2", "map/erk kinase kinase 2", "mitogen-activated protein kinase kinase kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10746 ; - skos:exactMatch HGNC_symbol:MAP3K2 ; + skos:exactMatch UMLS:C1417013, + HGNC:6854, + HGNC_symbol:MAP3K2 ; biolink:category biolink:Gene . OMIM:609488 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15447989 ; - oboInOwl:hasDbXref UMLS:C1824639 ; oboInOwl:hasExactSynonym "cancer/testis antigen km-hn-1", "mgc33607" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256309 ; - skos:exactMatch HGNC_symbol:CCDC110 ; + skos:exactMatch UMLS:C1824639, + HGNC:28504, + HGNC_symbol:CCDC110 ; biolink:category biolink:Gene . OMIM:609489 a owl:Class ; @@ -266590,7 +276747,6 @@ OMIM:609489 a owl:Class ; PMID:9384606 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:248510 ; - oboInOwl:hasDbXref UMLS:C1416999 ; oboInOwl:hasExactSynonym "MANBA", "manb1", "mannanase", @@ -266598,18 +276754,21 @@ OMIM:609489 a owl:Class ; "mannosidase, beta a, lysosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4126 ; - skos:exactMatch HGNC_symbol:MANBA ; + skos:exactMatch UMLS:C1416999, + HGNC:6831, + HGNC_symbol:MANBA ; biolink:category biolink:Gene . OMIM:609490 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15383541 ; - oboInOwl:hasDbXref UMLS:C1836112 ; oboInOwl:hasExactSynonym "inca", "inhibitory caspase recruitment domain protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440068 ; - skos:exactMatch HGNC_symbol:CARD17 ; + skos:exactMatch UMLS:C1836112, + HGNC:33827, + HGNC_symbol:CARD17 ; biolink:category biolink:Gene . OMIM:609491 a owl:Class ; @@ -266619,13 +276778,14 @@ OMIM:609491 a owl:Class ; PMID:15091342, PMID:17991770, PMID:18566450 ; - oboInOwl:hasDbXref UMLS:C1425135 ; oboInOwl:hasExactSynonym "GPSM1", "activator of g protein signaling 3", "g protein signaling modulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26086 ; - skos:exactMatch HGNC_symbol:GPSM1 ; + skos:exactMatch UMLS:C1425135, + HGNC:17858, + HGNC_symbol:GPSM1 ; biolink:category biolink:Gene . OMIM:609492 a owl:Class ; @@ -266634,14 +276794,15 @@ OMIM:609492 a owl:Class ; PMID:12732644, PMID:20368356, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1419286 ; oboInOwl:hasExactSynonym "RASSF2", "kiaa0168", "ras association domain family protein 2", "rasfadin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9770 ; - skos:exactMatch HGNC_symbol:RASSF2 ; + skos:exactMatch UMLS:C1419286, + HGNC:9883, + HGNC_symbol:RASSF2 ; biolink:category biolink:Gene . OMIM:609493 a owl:Class ; @@ -266649,39 +276810,42 @@ OMIM:609493 a owl:Class ; IAO:0000142 PMID:10825161, PMID:14625278, PMID:14630949 ; - oboInOwl:hasDbXref UMLS:C1423839 ; oboInOwl:hasExactSynonym "SLC2A4RG", "glut4 enhancer factor", "hd gene regulatory region-binding protein 1", "slc2a4 regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56731 ; - skos:exactMatch HGNC_symbol:SLC2A4RG ; + skos:exactMatch UMLS:C1423839, + HGNC:15930, + HGNC_symbol:SLC2A4RG ; biolink:category biolink:Gene . OMIM:609494 a owl:Class ; rdfs:label "ZNF395" ; IAO:0000142 PMID:11853404, PMID:14625278 ; - oboInOwl:hasDbXref UMLS:C1538187 ; oboInOwl:hasExactSynonym "ZNF395", "hd gene regulatory region-binding protein 2", "papillomavirus-binding factor", "zinc finger protein 395" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55893 ; - skos:exactMatch HGNC_symbol:ZNF395 ; + skos:exactMatch UMLS:C1538187, + HGNC:18737, + HGNC_symbol:ZNF395 ; biolink:category biolink:Gene . OMIM:609495 a owl:Class ; rdfs:label "GGNBP1" ; IAO:0000142 PMID:15625700 ; - oboInOwl:hasDbXref UMLS:C1836111 ; oboInOwl:hasExactSynonym "GGNBP1", "gametogenetin-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:449520 ; - skos:exactMatch HGNC_symbol:GGNBP1 ; + skos:exactMatch UMLS:C1836111, + HGNC:19427, + HGNC_symbol:GGNBP1 ; biolink:category biolink:Gene . OMIM:609496 a owl:Class ; @@ -266694,38 +276858,41 @@ OMIM:609497 a owl:Class ; PMID:15691326, PMID:15908954, PMID:20843824 ; - oboInOwl:hasDbXref UMLS:C1836110 ; oboInOwl:hasExactSynonym "ERAP2", "endoplasmic reticulum aminopeptidase 2", "leukocyte-derived arginine aminopeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64167 ; - skos:exactMatch HGNC_symbol:ERAP2 ; + skos:exactMatch UMLS:C1836110, + HGNC:29499, + HGNC_symbol:ERAP2 ; biolink:category biolink:Gene . OMIM:609498 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15723337 ; - oboInOwl:hasDbXref UMLS:C1836109 ; oboInOwl:hasExactSynonym "f-box only protein 47", "fbxo47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494188 ; - skos:exactMatch HGNC_symbol:FBXO47 ; + skos:exactMatch UMLS:C1836109, + HGNC:31969, + HGNC_symbol:FBXO47 ; biolink:category biolink:Gene . OMIM:609499 a owl:Class ; rdfs:label "MCF2L" ; IAO:0000142 PMID:7957046, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1422768 ; oboInOwl:hasExactSynonym "MCF2L", "kiaa0362", "mcf2-like protein", "ost" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23263 ; - skos:exactMatch HGNC_symbol:MCF2L ; + skos:exactMatch UMLS:C1422768, + HGNC:14576, + HGNC_symbol:MCF2L ; biolink:category biolink:Gene . OMIM:609500 a owl:Class ; @@ -266734,20 +276901,21 @@ OMIM:609500 a owl:Class ; PMID:6590305, PMID:9382133, PMID:9849802 ; - oboInOwl:hasDbXref UMLS:C2931230 ; oboInOwl:hasExactSynonym "myopathy, autophagic vacuolar, infantile-onset" ; + skos:exactMatch UMLS:C2931230 ; biolink:category biolink:Disease . OMIM:609501 a owl:Class ; rdfs:label "TDRKH" ; IAO:0000142 PMID:10767542 ; - oboInOwl:hasDbXref UMLS:C1420678 ; oboInOwl:hasExactSynonym "TDRKH", "papi", "tudor and kh domains-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11022 ; - skos:exactMatch HGNC_symbol:TDRKH ; + skos:exactMatch UMLS:C1420678, + HGNC:11713, + HGNC_symbol:TDRKH ; biolink:category biolink:Gene . OMIM:609502 a owl:Class ; @@ -266757,14 +276925,15 @@ OMIM:609502 a owl:Class ; PMID:20805371 ; RO:0002525 CHR:9606chr10q23.1 ; RO:0003303 OMIM:613660 ; - oboInOwl:hasDbXref UMLS:C1422749 ; oboInOwl:hasExactSynonym "CDHR1", "cadherin-related family, member 1", "photoreceptor cadherin", "protocadherin 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92211 ; - skos:exactMatch HGNC_symbol:CDHR1 ; + skos:exactMatch UMLS:C1422749, + HGNC:14550, + HGNC_symbol:CDHR1 ; biolink:category biolink:Gene . OMIM:609503 a owl:Class ; @@ -266772,13 +276941,14 @@ OMIM:609503 a owl:Class ; IAO:0000142 PMID:10747865, PMID:11173852, PMID:12748127 ; - oboInOwl:hasDbXref UMLS:C1422153 ; oboInOwl:hasExactSynonym "THEG", "testicular haploid expressed gene, mouse, homolog of", "theg spermatid protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51298 ; - skos:exactMatch HGNC_symbol:THEG ; + skos:exactMatch UMLS:C1422153, + HGNC:13706, + HGNC_symbol:THEG ; biolink:category biolink:Gene . OMIM:609504 a owl:Class ; @@ -266788,7 +276958,6 @@ OMIM:609504 a owl:Class ; PMID:16186106, PMID:9654073, PMID:9765390 ; - oboInOwl:hasDbXref UMLS:C1417080 ; oboInOwl:hasExactSynonym "MCRS1", "microspherule protein 1", "microspherule protein 2", @@ -266796,20 +276965,23 @@ OMIM:609504 a owl:Class ; "p78" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10445 ; - skos:exactMatch HGNC_symbol:MCRS1 ; + skos:exactMatch UMLS:C1417080, + HGNC:6960, + HGNC_symbol:MCRS1 ; biolink:category biolink:Gene . OMIM:609505 a owl:Class ; rdfs:label "TRIM16" ; IAO:0000142 PMID:11919186, PMID:9817599 ; - oboInOwl:hasDbXref UMLS:C1424849 ; oboInOwl:hasExactSynonym "TRIM16", "estrogen-responsive b-box protein", "tripartite motif-containing protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10626 ; - skos:exactMatch HGNC_symbol:TRIM16 ; + skos:exactMatch UMLS:C1424849, + HGNC:17241, + HGNC_symbol:TRIM16 ; biolink:category biolink:Gene . OMIM:609506 a owl:Class ; @@ -266848,7 +277020,6 @@ OMIM:609506 a owl:Class ; PMID:9837822 ; RO:0002525 CHR:9606chr12q14.1 ; RO:0003303 OMIM:264700 ; - oboInOwl:hasDbXref UMLS:C1413865 ; oboInOwl:hasExactSynonym "1-alpha-hydroxylase", "25-hydroxyvitamin d3-1-alpha-hydroxylase", "CYP27B1", @@ -266856,7 +277027,9 @@ OMIM:609506 a owl:Class ; "p450c1-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1594 ; - skos:exactMatch HGNC_symbol:CYP27B1 ; + skos:exactMatch UMLS:C1413865, + HGNC:2606, + HGNC_symbol:CYP27B1 ; biolink:category biolink:Gene . OMIM:609507 a owl:Class ; @@ -266870,14 +277043,15 @@ OMIM:609507 a owl:Class ; PMID:21159800 ; RO:0002525 CHR:9606chr9p21.1 ; RO:0003303 OMIM:609923 ; - oboInOwl:hasDbXref UMLS:C1427675 ; oboInOwl:hasExactSynonym "TOPORS", "lun", "p53-binding protein 3", "topoisomerase i-binding arginine/serine-rich protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10210 ; - skos:exactMatch HGNC_symbol:TOPORS ; + skos:exactMatch UMLS:C1427675, + HGNC:21653, + HGNC_symbol:TOPORS ; biolink:category biolink:Gene . OMIM:609509 a owl:Class ; @@ -266885,12 +277059,13 @@ OMIM:609509 a owl:Class ; IAO:0000142 PMID:15184896, PMID:17627770, PMID:26944931 ; - oboInOwl:hasDbXref UMLS:C1426200 ; oboInOwl:hasExactSynonym "IL31", "interleukin 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:386653 ; - skos:exactMatch HGNC_symbol:IL31 ; + skos:exactMatch UMLS:C1426200, + HGNC:19372, + HGNC_symbol:IL31 ; biolink:category biolink:Gene . OMIM:609510 a owl:Class ; @@ -266904,14 +277079,15 @@ OMIM:609510 a owl:Class ; PMID:20956341 ; RO:0002525 CHR:9606chr5q11.2 ; RO:0003303 OMIM:613955 ; - oboInOwl:hasDbXref UMLS:C1425928 ; oboInOwl:hasExactSynonym "IL31RA", "gp130-like monocyte receptor", "gp130-like receptor", "interleukin 31 receptor a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133396 ; - skos:exactMatch HGNC_symbol:IL31RA ; + skos:exactMatch UMLS:C1425928, + HGNC:18969, + HGNC_symbol:IL31RA ; biolink:category biolink:Gene . OMIM:609511 a owl:Class ; @@ -266920,15 +277096,16 @@ OMIM:609511 a owl:Class ; PMID:15020713, PMID:16034420, PMID:25233840 ; - oboInOwl:hasDbXref UMLS:C1427116, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "RBSN", "rabenosyn 5", "rabenosyn, rab effector", "zinc finger fyve domain-containing protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64145 ; - skos:exactMatch HGNC_symbol:RBSN ; + skos:exactMatch UMLS:C1427116, + UMLS:C2986382, + HGNC:20759, + HGNC_symbol:RBSN ; biolink:category biolink:Gene . OMIM:609512 a owl:Class ; @@ -266946,8 +277123,6 @@ OMIM:609512 a owl:Class ; PMID:8541850 ; RO:0002525 CHR:9606chr3p11.2 ; RO:0003303 OMIM:600795 ; - oboInOwl:hasDbXref UMLS:C1538456, - UMLS:C1836076 ; oboInOwl:hasExactSynonym "CHMP2B", "charged multivesicular body protein 2b", "chmp family, member 2b", @@ -266955,25 +277130,28 @@ OMIM:609512 a owl:Class ; "vacuolar protein sorting 2, yeast, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25978 ; - skos:exactMatch HGNC_symbol:CHMP2B ; + skos:exactMatch UMLS:C1538456, + UMLS:C1836076, + HGNC:24537, + HGNC_symbol:CHMP2B ; biolink:category biolink:Gene . OMIM:609513 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15312648 ; - oboInOwl:hasDbXref UMLS:C1836075 ; oboInOwl:hasExactSynonym "neuropeptide s", "nps" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:594857 ; - skos:exactMatch HGNC_symbol:NPS ; + skos:exactMatch UMLS:C1836075, + HGNC:33940, + HGNC_symbol:NPS ; biolink:category biolink:Gene . OMIM:609514 a owl:Class ; rdfs:label "TAF8" ; IAO:0000142 PMID:14580349, PMID:23292512 ; - oboInOwl:hasDbXref UMLS:C1424885 ; oboInOwl:hasExactSynonym "TAF8", "tata box-binding protein-associated factor 8", "taube nuss, mouse, homolog of", @@ -266981,28 +277159,31 @@ OMIM:609514 a owl:Class ; "tbp-associated factor, RNA polymerase ii, 43-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129685 ; - skos:exactMatch HGNC_symbol:TAF8 ; + skos:exactMatch UMLS:C1424885, + HGNC:17300, + HGNC_symbol:TAF8 ; biolink:category biolink:Gene . OMIM:609515 a owl:Class ; rdfs:label "iridogoniodysgenesis and skeletal anomalies" ; IAO:0000142 PMID:15200504, PMID:2348980 ; - oboInOwl:hasDbXref UMLS:C1836074 ; - oboInOwl:hasExactSynonym "iridogoniodysgenesis and skeletal anomalies" . + oboInOwl:hasExactSynonym "iridogoniodysgenesis and skeletal anomalies" ; + skos:exactMatch UMLS:C1836074 . OMIM:609516 a owl:Class ; rdfs:label "ZNF382" ; IAO:0000142 PMID:11154279, PMID:12459182, PMID:9835615 ; - oboInOwl:hasDbXref UMLS:C1424956 ; oboInOwl:hasExactSynonym "ZNF382", "krab/zinc finger suppressor protein 1, rat, homolog of", "zinc finger protein 382" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84911 ; - skos:exactMatch HGNC_symbol:ZNF382 ; + skos:exactMatch UMLS:C1424956, + HGNC:17409, + HGNC_symbol:ZNF382 ; biolink:category biolink:Gene . OMIM:609517 a owl:Class ; @@ -267011,7 +277192,6 @@ OMIM:609517 a owl:Class ; PMID:10733938, PMID:14965474, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1420730 ; oboInOwl:hasExactSynonym "TIAF1", "kiaa0216", "molecule associated with jak3 n terminus", @@ -267019,18 +277199,22 @@ OMIM:609517 a owl:Class ; "tgfb1-induced antiapoptotic factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399687 ; + skos:exactMatch UMLS:C1420730, + HGNC:31104, + HGNC_symbol:MYO18A ; biolink:category biolink:Gene . OMIM:609518 a owl:Class ; rdfs:label "THAP7" ; IAO:0000142 PMID:12575992, PMID:15561719 ; - oboInOwl:hasDbXref UMLS:C1427976 ; oboInOwl:hasExactSynonym "THAP7", "thap domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80764 ; - skos:exactMatch HGNC_symbol:THAP7 ; + skos:exactMatch UMLS:C1427976, + HGNC:23190, + HGNC_symbol:THAP7 ; biolink:category biolink:Gene . OMIM:609519 a owl:Class ; @@ -267038,8 +277222,6 @@ OMIM:609519 a owl:Class ; IAO:0000142 PMID:10086727, PMID:10644725, PMID:11700047 ; - oboInOwl:hasDbXref UMLS:C1422118, - UMLS:C1840249 ; oboInOwl:hasExactSynonym "TFPT", "amida, rat, homolog of", "fb1", @@ -267047,7 +277229,10 @@ OMIM:609519 a owl:Class ; "tfpt/e2a fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29844 ; - skos:exactMatch HGNC_symbol:TFPT ; + skos:exactMatch UMLS:C1422118, + UMLS:C1840249, + HGNC:13630, + HGNC_symbol:TFPT ; biolink:category biolink:Gene . OMIM:609520 a owl:Class ; @@ -267068,12 +277253,13 @@ OMIM:609520 a owl:Class ; PMID:30590536 ; RO:0002525 CHR:9606chr8p11.21 ; RO:0003303 OMIM:602629 ; - oboInOwl:hasDbXref UMLS:C1427163 ; oboInOwl:hasExactSynonym "THAP1", "thap domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55145 ; - skos:exactMatch HGNC_symbol:THAP1 ; + skos:exactMatch UMLS:C1427163, + HGNC:20856, + HGNC_symbol:THAP1 ; biolink:category biolink:Gene . OMIM:609521 a owl:Class ; @@ -267081,25 +277267,27 @@ OMIM:609521 a owl:Class ; IAO:0000142 PMID:15154973, PMID:15451416, PMID:7882967 ; - oboInOwl:hasDbXref UMLS:C1420178 ; oboInOwl:hasExactSynonym "SLC30A1", "solute carrier family 30 (zinc transporter), member 1", "zinc transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7779 ; - skos:exactMatch HGNC_symbol:SLC30A1 ; + skos:exactMatch UMLS:C1420178, + HGNC:11012, + HGNC_symbol:SLC30A1 ; biolink:category biolink:Gene . OMIM:609522 a owl:Class ; rdfs:label "ELOA2" ; IAO:0000142 PMID:10692460 ; - oboInOwl:hasDbXref UMLS:C1428998 ; oboInOwl:hasExactSynonym "ELOA2", "elongin a2", "transcription elongation factor b, polypeptide 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51224 ; - skos:exactMatch HGNC_symbol:ELOA2 ; + skos:exactMatch UMLS:C1428998, + HGNC:30771, + HGNC_symbol:ELOA2 ; biolink:category biolink:Gene . OMIM:609523 a owl:Class ; @@ -267121,21 +277309,21 @@ OMIM:609523 a owl:Class ; PMID:9829906 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:270200 ; - oboInOwl:hasDbXref UMLS:C1412334 ; oboInOwl:hasExactSynonym "ALDH3A2", "aldehyde dehydrogenase 10", "aldehyde dehydrogenase, family 3, subfamily a, member 2", "fatty aldehyde dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:224 ; - skos:exactMatch HGNC_symbol:ALDH3A2 ; + skos:exactMatch UMLS:C1412334, + HGNC:403, + HGNC_symbol:ALDH3A2 ; biolink:category biolink:Gene . OMIM:609525 a owl:Class ; rdfs:label "METTL8" ; IAO:0000142 PMID:15992539, PMID:28655767 ; - oboInOwl:hasDbXref UMLS:C1825978 ; oboInOwl:hasExactSynonym "METTL8", "flj13984", "methyltransferase 8, methylcytidine", @@ -267143,7 +277331,9 @@ OMIM:609525 a owl:Class ; "tension-induced/inhibited protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79828 ; - skos:exactMatch HGNC_symbol:METTL8 ; + skos:exactMatch UMLS:C1825978, + HGNC:25856, + HGNC_symbol:METTL8 ; biolink:category biolink:Gene . OMIM:609526 a owl:Class ; @@ -267154,7 +277344,6 @@ OMIM:609526 a owl:Class ; PMID:16713569, PMID:16780885, PMID:17611710 ; - oboInOwl:hasDbXref UMLS:C1538675 ; oboInOwl:hasExactSynonym "PLEKHG4", "pleckstrin homology domain- and rhogef domain-containing protein g4", "pleckstrin homology domain-containing protein, family g, member 4", @@ -267162,7 +277351,9 @@ OMIM:609526 a owl:Class ; "purkinje cell atrophy-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25894 ; - skos:exactMatch HGNC_symbol:PLEKHG4 ; + skos:exactMatch UMLS:C1538675, + HGNC:24501, + HGNC_symbol:PLEKHG4 ; biolink:category biolink:Gene . OMIM:609527 a owl:Class ; @@ -267170,7 +277361,6 @@ OMIM:609527 a owl:Class ; IAO:0000142 PMID:10486569, PMID:10934204, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1424601 ; oboInOwl:hasExactSynonym "RAPGEF5", "guanine nucleotide exchange factor for rap1", "kiaa0277", @@ -267178,7 +277368,9 @@ OMIM:609527 a owl:Class ; "rap guanine nucleotide exchange factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9771 ; - skos:exactMatch HGNC_symbol:RAPGEF5 ; + skos:exactMatch UMLS:C1424601, + HGNC:16862, + HGNC_symbol:RAPGEF5 ; biolink:category biolink:Gene . OMIM:609530 a owl:Class ; @@ -267192,7 +277384,6 @@ OMIM:609530 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr4q32.1 ; RO:0003303 OMIM:618075 ; - oboInOwl:hasDbXref UMLS:C1424595 ; oboInOwl:hasExactSynonym "RAPGEF2", "kiaa0313", "neural rap guanine nucleotide exchange protein", @@ -267201,31 +277392,34 @@ OMIM:609530 a owl:Class ; "ras-associating guanine nucleotide exchange factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9693 ; - skos:exactMatch HGNC_symbol:RAPGEF2 ; + skos:exactMatch UMLS:C1424595, + HGNC:16854, + HGNC_symbol:RAPGEF2 ; biolink:category biolink:Gene . OMIM:609531 a owl:Class ; rdfs:label "RASGRP3" ; IAO:0000142 PMID:10048485, PMID:10934204 ; - oboInOwl:hasDbXref UMLS:C1422744 ; oboInOwl:hasExactSynonym "RASGRP3", "grp3", "kiaa0846", "ras guanyl nucleotide-releasing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25780 ; - skos:exactMatch HGNC_symbol:RASGRP3 ; + skos:exactMatch UMLS:C1422744, + HGNC:14545, + HGNC_symbol:RASGRP3 ; biolink:category biolink:Gene . OMIM:609533 a owl:Class ; rdfs:label "deafness, autosomal recessive 23" ; IAO:0000142 PMID:14570705, PMID:19107147 ; - oboInOwl:hasDbXref UMLS:C1836027 ; oboInOwl:hasExactSynonym "DFNB23", "deafness, autosomal recessive 23" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1836027 ; biolink:category biolink:Disease . OMIM:609534 a owl:Class ; @@ -267236,7 +277430,6 @@ OMIM:609534 a owl:Class ; PMID:20147293, PMID:21901109, PMID:25404367 ; - oboInOwl:hasDbXref UMLS:C1708025 ; oboInOwl:hasExactSynonym "ATAD5", "atpase family, aaa domain-containing, member 5", "chromosome 17 open reading frame 41", @@ -267245,7 +277438,9 @@ OMIM:609534 a owl:Class ; "frag1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79915 ; - skos:exactMatch HGNC_symbol:ATAD5 ; + skos:exactMatch UMLS:C1708025, + HGNC:25752, + HGNC_symbol:ATAD5 ; biolink:category biolink:Gene . OMIM:609536 a owl:Class ; @@ -267263,31 +277458,32 @@ OMIM:609536 a owl:Class ; PMID:5411128, PMID:7730648, PMID:777027 ; - oboInOwl:hasDbXref UMLS:C0343047 ; oboInOwl:hasExactSynonym "C5D", "c5 deficiency", "complement component 5 deficiency" ; + skos:exactMatch UMLS:C0343047 ; biolink:category biolink:Disease . OMIM:609537 a owl:Class ; rdfs:label "lipomyelomeningocele" ; IAO:0000142 PMID:15551328, PMID:3043296 ; - oboInOwl:hasDbXref UMLS:C1836022 ; - oboInOwl:hasExactSynonym "lipomyelomeningocele" . + oboInOwl:hasExactSynonym "lipomyelomeningocele" ; + skos:exactMatch UMLS:C1836022 . OMIM:609538 a owl:Class ; rdfs:label "PTPMT1" ; IAO:0000142 PMID:15247229, PMID:16039589 ; - oboInOwl:hasDbXref UMLS:C1538749 ; oboInOwl:hasExactSynonym "PTPMT1", "phosphoinositide lipid phosphatase", "protein-tyrosine phosphatase, mitochondrial, 1", "pten-like phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114971 ; - skos:exactMatch HGNC_symbol:PTPMT1 ; + skos:exactMatch UMLS:C1538749, + HGNC:26965, + HGNC_symbol:PTPMT1 ; biolink:category biolink:Gene . OMIM:609539 a owl:Class ; @@ -267302,7 +277498,6 @@ OMIM:609539 a owl:Class ; PMID:28884947 ; RO:0002525 CHR:9606chr12q12 ; RO:0003303 OMIM:617808 ; - oboInOwl:hasDbXref UMLS:C1425257 ; oboInOwl:hasExactSynonym "ARID2", "arid-containing protein 2", "at-rich interaction domain-containing protein 2", @@ -267310,45 +277505,50 @@ OMIM:609539 a owl:Class ; "kiaa1557" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196528 ; - skos:exactMatch HGNC_symbol:ARID2 ; + skos:exactMatch UMLS:C1425257, + HGNC:18037, + HGNC_symbol:ARID2 ; biolink:category biolink:Gene . OMIM:609540 a owl:Class ; rdfs:label "WDR61" ; IAO:0000142 PMID:16024656 ; - oboInOwl:hasDbXref UMLS:C1823825 ; oboInOwl:hasExactSynonym "WDR61", "ski8, yeast, homolog of", "wd repeat-containing protein 61" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80349 ; - skos:exactMatch HGNC_symbol:WDR61 ; + skos:exactMatch UMLS:C1823825, + HGNC:30300, + HGNC_symbol:WDR61 ; biolink:category biolink:Gene . OMIM:609542 a owl:Class ; rdfs:label "ATP8A1" ; IAO:0000142 PMID:10198212, PMID:15833447 ; - oboInOwl:hasDbXref UMLS:C1422042 ; oboInOwl:hasExactSynonym "ATP8A1", "atpase 2", "atpase, class i, iia 8a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10396 ; - skos:exactMatch HGNC_symbol:ATP8A1 ; + skos:exactMatch UMLS:C1422042, + HGNC:13531, + HGNC_symbol:ATP8A1 ; biolink:category biolink:Gene . OMIM:609543 a owl:Class ; rdfs:label "LINC00293" ; IAO:0000142 PMID:15676287 ; - oboInOwl:hasDbXref UMLS:C1836009 ; oboInOwl:hasExactSynonym "LINC00293", "beyla gene", "loc497634", "long intergenic noncoding RNA 293" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:497634 ; - skos:exactMatch HGNC_symbol:LINC00293 ; + skos:exactMatch UMLS:C1836009, + HGNC:39078, + HGNC_symbol:LINC00293 ; biolink:category biolink:Gene . OMIM:609544 a owl:Class ; @@ -267364,14 +277564,15 @@ OMIM:609544 a owl:Class ; PMID:23486064, PMID:24899310, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1836008 ; oboInOwl:hasExactSynonym "CCP110", "centriolar coiled-coil protein, 110-kd", "centrosomal protein, 110-kd", "kiaa0419" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9738 ; - skos:exactMatch HGNC_symbol:CCP110 ; + skos:exactMatch UMLS:C1836008, + HGNC:24342, + HGNC_symbol:CCP110 ; biolink:category biolink:Gene . OMIM:609545 a owl:Class ; @@ -267380,21 +277581,22 @@ OMIM:609545 a owl:Class ; PMID:2359107, PMID:7802033, PMID:9916853 ; - oboInOwl:hasDbXref UMLS:C1836007 ; oboInOwl:hasExactSynonym "gershoni-baruch syndrome", - "omphalocele, diaphragmatic hernia, and radial ray defects" . + "omphalocele, diaphragmatic hernia, and radial ray defects" ; + skos:exactMatch UMLS:C1836007 . OMIM:609546 a owl:Class ; rdfs:label "USP29" ; IAO:0000142 PMID:10958632, PMID:12032826 ; - oboInOwl:hasDbXref UMLS:C1425603 ; oboInOwl:hasExactSynonym "USP29", "hom-tes-84/86", "ubiquitin-specific protease 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57663 ; - skos:exactMatch HGNC_symbol:USP29 ; + skos:exactMatch UMLS:C1425603, + HGNC:18563, + HGNC_symbol:USP29 ; biolink:category biolink:Gene . OMIM:609547 a owl:Class ; @@ -267404,42 +277606,45 @@ OMIM:609547 a owl:Class ; OMIM:609548 a owl:Class ; rdfs:label "LMAN1L" ; IAO:0000142 PMID:11255007 ; - oboInOwl:hasDbXref UMLS:C1416875 ; oboInOwl:hasExactSynonym "LMAN1L", "ergic53-like protein", "lectin, mannose-binding 1-like", "lman1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79748 ; - skos:exactMatch HGNC_symbol:LMAN1L ; + skos:exactMatch UMLS:C1416875, + HGNC:6632, + HGNC_symbol:LMAN1L ; biolink:category biolink:Gene . OMIM:609550 a owl:Class ; rdfs:label "ZNF330" ; IAO:0000142 PMID:10593942, PMID:11528117 ; - oboInOwl:hasDbXref UMLS:C1423505 ; oboInOwl:hasExactSynonym "ZNF330", "nucleolar autoantigen, 36-kd", "nucleolar cysteine-rich protein", "zinc finger protein 330" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27309 ; - skos:exactMatch HGNC_symbol:ZNF330 ; + skos:exactMatch UMLS:C1423505, + HGNC:15462, + HGNC_symbol:ZNF330 ; biolink:category biolink:Gene . OMIM:609551 a owl:Class ; rdfs:label "LMAN2" ; IAO:0000142 PMID:12609988, PMID:12878160 ; - oboInOwl:hasDbXref UMLS:C1424674 ; oboInOwl:hasExactSynonym "LMAN2", "gp36b", "lectin, mannose-binding 2", "vip36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10960 ; - skos:exactMatch HGNC_symbol:LMAN2 ; + skos:exactMatch UMLS:C1424674, + HGNC:16986, + HGNC_symbol:LMAN2 ; biolink:category biolink:Gene . OMIM:609552 a owl:Class ; @@ -267449,63 +277654,68 @@ OMIM:609552 a owl:Class ; PMID:26566883 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:616887 ; - oboInOwl:hasDbXref UMLS:C1426128 ; oboInOwl:hasExactSynonym "LMAN2L", "lectin, mannose-binding 2-like", "lman2-like protein", "vip36-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81562 ; - skos:exactMatch HGNC_symbol:LMAN2L ; + skos:exactMatch UMLS:C1426128, + HGNC:19263, + HGNC_symbol:LMAN2L ; biolink:category biolink:Gene . OMIM:609553 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12107411 ; - oboInOwl:hasDbXref UMLS:C1826948 ; oboInOwl:hasExactSynonym "retbindin", "rtbdn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83546 ; - skos:exactMatch HGNC_symbol:RTBDN ; + skos:exactMatch UMLS:C1826948, + HGNC:30310, + HGNC_symbol:RTBDN ; biolink:category biolink:Gene . OMIM:609554 a owl:Class ; rdfs:label "ITM2C" ; IAO:0000142 PMID:11290423, PMID:15606899 ; - oboInOwl:hasDbXref UMLS:C1416513 ; oboInOwl:hasExactSynonym "ITM2C", "bri3", "integral membrane protein 2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81618 ; - skos:exactMatch HGNC_symbol:ITM2C ; + skos:exactMatch UMLS:C1416513, + HGNC:6175, + HGNC_symbol:ITM2C ; biolink:category biolink:Gene . OMIM:609555 a owl:Class ; rdfs:label "CPXM1" ; IAO:0000142 PMID:10073577, PMID:11780052 ; - oboInOwl:hasDbXref UMLS:C1824787 ; oboInOwl:hasExactSynonym "CPXM1", "carboxypeptidase x, m14 family, member 1", "cpx1", "cpxm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56265 ; - skos:exactMatch HGNC_symbol:CPXM1 ; + skos:exactMatch UMLS:C1824787, + HGNC:15771, + HGNC_symbol:CPXM1 ; biolink:category biolink:Gene . OMIM:609556 a owl:Class ; rdfs:label "ATP13A4" ; IAO:0000142 PMID:15925480 ; - oboInOwl:hasDbXref UMLS:C1540217 ; oboInOwl:hasExactSynonym "ATP13A4", "atpase 13a4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84239 ; - skos:exactMatch HGNC_symbol:ATP13A4 ; + skos:exactMatch UMLS:C1540217, + HGNC:25422, + HGNC_symbol:ATP13A4 ; biolink:category biolink:Gene . OMIM:609557 a owl:Class ; @@ -267519,38 +277729,41 @@ OMIM:609557 a owl:Class ; PMID:9455477 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:616224 ; - oboInOwl:hasDbXref UMLS:C1538715 ; oboInOwl:hasExactSynonym "PREPL", "kiaa0436", "prolyl endopeptidase-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9581 ; - skos:exactMatch HGNC_symbol:PREPL ; + skos:exactMatch UMLS:C1538715, + HGNC:30228, + HGNC_symbol:PREPL ; biolink:category biolink:Gene . OMIM:609559 a owl:Class ; rdfs:label "CAMKMT" ; IAO:0000142 PMID:15913950, PMID:23349634 ; - oboInOwl:hasDbXref UMLS:C1824103 ; oboInOwl:hasExactSynonym "CAMKMT", "calmodulin lysine n-methyltransferase", "chromosome 2 open reading frame 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79823 ; - skos:exactMatch HGNC_symbol:CAMKMT ; + skos:exactMatch UMLS:C1824103, + HGNC:26276, + HGNC_symbol:CAMKMT ; biolink:category biolink:Gene . OMIM:609561 a owl:Class ; rdfs:label "CPA5" ; IAO:0000142 PMID:11836249, PMID:12676894 ; - oboInOwl:hasDbXref UMLS:C1423685 ; oboInOwl:hasExactSynonym "CPA5", "carboxypeptidase a5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93979 ; - skos:exactMatch HGNC_symbol:CPA5 ; + skos:exactMatch UMLS:C1423685, + HGNC:15722, + HGNC_symbol:CPA5 ; biolink:category biolink:Gene . OMIM:609562 a owl:Class ; @@ -267564,24 +277777,26 @@ OMIM:609562 a owl:Class ; PMID:27050163 ; RO:0002525 CHR:9606chr8q13.2 ; RO:0003303 OMIM:614418 ; - oboInOwl:hasDbXref UMLS:C1424851 ; oboInOwl:hasExactSynonym "CPA6", "carboxypeptidase a6", "cpah" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57094 ; - skos:exactMatch HGNC_symbol:CPA6 ; + skos:exactMatch UMLS:C1424851, + HGNC:17245, + HGNC_symbol:CPA6 ; biolink:category biolink:Gene . OMIM:609563 a owl:Class ; rdfs:label "CPO" ; IAO:0000142 PMID:11836249 ; - oboInOwl:hasDbXref UMLS:C1427240 ; oboInOwl:hasExactSynonym "CPO", "carboxypeptidase o" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130749 ; - skos:exactMatch HGNC_symbol:CPO ; + skos:exactMatch UMLS:C1427240, + HGNC:21011, + HGNC_symbol:CPO ; biolink:category biolink:Gene . OMIM:609564 a owl:Class ; @@ -267589,24 +277804,26 @@ OMIM:609564 a owl:Class ; IAO:0000142 PMID:15674325, PMID:15953538, PMID:18851833 ; - oboInOwl:hasDbXref UMLS:C1538587 ; oboInOwl:hasExactSynonym "PARP10", "poly(adp-ribose) polymerase 10", "poly(adp-ribose) polymerase family, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84875 ; - skos:exactMatch HGNC_symbol:PARP10 ; + skos:exactMatch UMLS:C1538587, + HGNC:25895, + HGNC_symbol:PARP10 ; biolink:category biolink:Gene . OMIM:609565 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15953541 ; - oboInOwl:hasDbXref UMLS:C1824500 ; oboInOwl:hasExactSynonym "mast cell-expressed membrane protein 1", "mcemp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199675 ; - skos:exactMatch HGNC_symbol:MCEMP1 ; + skos:exactMatch UMLS:C1824500, + HGNC:27291, + HGNC_symbol:MCEMP1 ; biolink:category biolink:Gene . OMIM:609567 a owl:Class ; @@ -267615,7 +277832,6 @@ OMIM:609567 a owl:Class ; PMID:15181042, PMID:15364929, PMID:20385813 ; - oboInOwl:hasDbXref UMLS:C1540191 ; oboInOwl:hasExactSynonym "PNPLA3", "adiponutrin", "ipla2-epsilon", @@ -267623,7 +277839,9 @@ OMIM:609567 a owl:Class ; "phospholipase a2, calcium-independent, epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80339 ; - skos:exactMatch HGNC_symbol:PNPLA3 ; + skos:exactMatch UMLS:C1540191, + HGNC:18590, + HGNC_symbol:PNPLA3 ; biolink:category biolink:Gene . OMIM:609568 a owl:Class ; @@ -267631,7 +277849,6 @@ OMIM:609568 a owl:Class ; IAO:0000142 PMID:10718198, PMID:15234003, PMID:15543602 ; - oboInOwl:hasDbXref UMLS:C1425469 ; oboInOwl:hasExactSynonym "ARHGAP20", "gtpase-activating protein, rho, 20", "kiaa1391", @@ -267639,7 +277856,9 @@ OMIM:609568 a owl:Class ; "rho gtpase-activating protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57569 ; - skos:exactMatch HGNC_symbol:ARHGAP20 ; + skos:exactMatch UMLS:C1425469, + HGNC:18357, + HGNC_symbol:ARHGAP20 ; biolink:category biolink:Gene . OMIM:609569 a owl:Class ; @@ -267651,27 +277870,29 @@ OMIM:609571 a owl:Class ; IAO:0000142 PMID:16094367 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:619488 ; - oboInOwl:hasDbXref UMLS:C1823998 ; oboInOwl:hasExactSynonym "ZNF699", "flj38144", "hangover, drosophila, homolog of", "zinc finger protein 699" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374879 ; - skos:exactMatch HGNC_symbol:ZNF699 ; + skos:exactMatch UMLS:C1823998, + HGNC:24750, + HGNC_symbol:ZNF699 ; biolink:category biolink:Gene . OMIM:609574 a owl:Class ; rdfs:label "HSD17B12" ; IAO:0000142 PMID:12482854 ; - oboInOwl:hasDbXref UMLS:C1425673 ; oboInOwl:hasExactSynonym "17-beta-hsd 12", "17-beta-hydroxysteroid dehydrogenase 12", "3-ketoacyl-coa reductase", "HSD17B12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51144 ; - skos:exactMatch HGNC_symbol:HSD17B12 ; + skos:exactMatch UMLS:C1425673, + HGNC:18646, + HGNC_symbol:HSD17B12 ; biolink:category biolink:Gene . OMIM:609575 a owl:Class ; @@ -267697,13 +277918,14 @@ OMIM:609575 a owl:Class ; PMID:9709714 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:201475 ; - oboInOwl:hasDbXref UMLS:C1412110 ; oboInOwl:hasExactSynonym "ACADVL", "acyl-coa dehydrogenase, very long-chain", "vlcad" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:37 ; - skos:exactMatch HGNC_symbol:ACADVL ; + skos:exactMatch UMLS:C1412110, + HGNC:92, + HGNC_symbol:ACADVL ; biolink:category biolink:Gene . OMIM:609576 a owl:Class ; @@ -267715,13 +277937,14 @@ OMIM:609576 a owl:Class ; PMID:8530022, PMID:9802886, PMID:9861014 ; - oboInOwl:hasDbXref UMLS:C1439272 ; oboInOwl:hasExactSynonym "ACADL", "acyl-coa dehydrogenase, long-chain", "lcad" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:33 ; - skos:exactMatch HGNC_symbol:ACADL ; + skos:exactMatch UMLS:C1439272, + HGNC:88, + HGNC_symbol:ACADL ; biolink:category biolink:Gene . OMIM:609577 a owl:Class ; @@ -267734,13 +277957,14 @@ OMIM:609577 a owl:Class ; PMID:7584044 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:273750 ; - oboInOwl:hasDbXref UMLS:C1427252 ; oboInOwl:hasExactSynonym "CUL7", "cullin 7", "kiaa0076" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9820 ; - skos:exactMatch HGNC_symbol:CUL7 ; + skos:exactMatch UMLS:C1427252, + HGNC:21024, + HGNC_symbol:CUL7 ; biolink:category biolink:Gene . OMIM:609580 a owl:Class ; @@ -267748,14 +277972,15 @@ OMIM:609580 a owl:Class ; IAO:0000142 PMID:10231032, PMID:12852856, PMID:18826961 ; - oboInOwl:hasDbXref UMLS:C1865069 ; oboInOwl:hasExactSynonym "NINL", "kiaa0980", "ninein-like protein", "nlp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22981 ; - skos:exactMatch HGNC_symbol:NINL ; + skos:exactMatch UMLS:C1865069, + HGNC:29163, + HGNC_symbol:NINL ; biolink:category biolink:Gene . OMIM:609581 a owl:Class ; @@ -267774,7 +277999,6 @@ OMIM:609582 a owl:Class ; PMID:18368051, PMID:19965718, PMID:21478871 ; - oboInOwl:hasDbXref UMLS:C1865068 ; oboInOwl:hasExactSynonym "MIR122A", "micro RNA 122a", "mir122", @@ -267783,17 +278007,19 @@ OMIM:609582 a owl:Class ; "mirna122a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406906 ; - skos:exactMatch HGNC_symbol:MIR122 ; + skos:exactMatch UMLS:C1865068, + HGNC:31501, + HGNC_symbol:MIR122 ; biolink:category biolink:Gene . OMIM:609583 a owl:Class ; rdfs:label "joubert syndrome 4" ; IAO:0000142 PMID:15138899, PMID:16155189 ; - oboInOwl:hasDbXref UMLS:C1846790 ; oboInOwl:hasExactSynonym "JBTS4", "joubert syndrome 4" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C1846790 ; biolink:category biolink:Disease . OMIM:609584 a owl:Class ; @@ -267808,38 +278034,41 @@ OMIM:609584 a owl:Class ; PMID:6787330 ; RO:0002525 CHR:9606chr14q21.3 ; RO:0003303 OMIM:236792 ; - oboInOwl:hasDbXref UMLS:C1825784 ; oboInOwl:hasExactSynonym "L2HGDH", "chromosome 14 open reading frame 160", "duranin", "l-2-hydroxyglutarate dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79944 ; - skos:exactMatch HGNC_symbol:L2HGDH ; + skos:exactMatch UMLS:C1825784, + HGNC:20499, + HGNC_symbol:L2HGDH ; biolink:category biolink:Gene . OMIM:609585 a owl:Class ; rdfs:label "CPLX3" ; IAO:0000142 PMID:15911881 ; - oboInOwl:hasDbXref UMLS:C1824784 ; oboInOwl:hasExactSynonym "CPLX3", "complexin 3", "cpx 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:594855 ; - skos:exactMatch HGNC_symbol:CPLX3 ; + skos:exactMatch UMLS:C1824784, + HGNC:27652, + HGNC_symbol:CPLX3 ; biolink:category biolink:Gene . OMIM:609586 a owl:Class ; rdfs:label "CPLX4" ; IAO:0000142 PMID:15911881 ; - oboInOwl:hasDbXref UMLS:C1428370 ; oboInOwl:hasExactSynonym "CPLX4", "complexin 4", "cpx 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339302 ; - skos:exactMatch HGNC_symbol:CPLX4 ; + skos:exactMatch UMLS:C1428370, + HGNC:24330, + HGNC_symbol:CPLX4 ; biolink:category biolink:Gene . OMIM:609587 a owl:Class ; @@ -267847,14 +278076,15 @@ OMIM:609587 a owl:Class ; IAO:0000142 PMID:10819331, PMID:12919680, PMID:18218899 ; - oboInOwl:hasDbXref UMLS:C1826787 ; oboInOwl:hasExactSynonym "RCC2", "kiaa1470", "regulator of chromosome condensation 2", "td60" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55920 ; - skos:exactMatch HGNC_symbol:RCC2 ; + skos:exactMatch UMLS:C1826787, + HGNC:30297, + HGNC_symbol:RCC2 ; biolink:category biolink:Gene . OMIM:609588 a owl:Class ; @@ -267869,9 +278099,6 @@ OMIM:609588 a owl:Class ; PMID:30660387 ; RO:0002525 CHR:9606chr14q32.13 ; RO:0003303 OMIM:616859 ; - oboInOwl:hasDbXref UMLS:C1825372, - UMLS:C4225178, - UMLS:C4225507 ; oboInOwl:hasExactSynonym "GLRX5", "chromosome 14 open reading frame 87", "flb4739", @@ -267880,7 +278107,11 @@ OMIM:609588 a owl:Class ; "pro1238" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51218 ; - skos:exactMatch HGNC_symbol:GLRX5 ; + skos:exactMatch UMLS:C1825372, + UMLS:C4225178, + UMLS:C4225507, + HGNC:20134, + HGNC_symbol:GLRX5 ; biolink:category biolink:Gene . OMIM:609589 a owl:Class ; @@ -267889,7 +278120,6 @@ OMIM:609589 a owl:Class ; PMID:12692079, PMID:12919681, PMID:15123706 ; - oboInOwl:hasDbXref UMLS:C1428889 ; oboInOwl:hasExactSynonym "MTUS1", "agtr2-interacting protein", "angiotensin 2 receptor 2-interacting protein", @@ -267899,7 +278129,9 @@ OMIM:609589 a owl:Class ; "mtsg1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57509 ; - skos:exactMatch HGNC_symbol:MTUS1 ; + skos:exactMatch UMLS:C1428889, + HGNC:29789, + HGNC_symbol:MTUS1 ; biolink:category biolink:Gene . OMIM:609590 a owl:Class ; @@ -267920,7 +278152,6 @@ OMIM:609590 a owl:Class ; PMID:8589716, PMID:8987822, PMID:9671495 ; - oboInOwl:hasDbXref UMLS:C1427319 ; oboInOwl:hasExactSynonym "QKI", "qk", "qk1", @@ -267928,7 +278159,9 @@ OMIM:609590 a owl:Class ; "quaking, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9444 ; - skos:exactMatch HGNC_symbol:QKI ; + skos:exactMatch UMLS:C1427319, + HGNC:21100, + HGNC_symbol:QKI ; biolink:category biolink:Gene . OMIM:609591 a owl:Class ; @@ -267946,14 +278179,15 @@ OMIM:609591 a owl:Class ; PMID:8918462 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:615355 ; - oboInOwl:hasDbXref UMLS:C1419390 ; oboInOwl:hasExactSynonym "RIT1", "ras-like protein expressed 1n many tissues", "ric-like protein without caax motif 1", "roc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6016 ; - skos:exactMatch HGNC_symbol:RIT1 ; + skos:exactMatch UMLS:C1419390, + HGNC:10023, + HGNC_symbol:RIT1 ; biolink:category biolink:Gene . OMIM:609592 a owl:Class ; @@ -267964,20 +278198,20 @@ OMIM:609592 a owl:Class ; PMID:23805044, PMID:8824319, PMID:8918462 ; - oboInOwl:hasDbXref UMLS:C1419388 ; oboInOwl:hasExactSynonym "RIT2", "ras-like protein expressed 1n neurons", "ric-like protein without caax motif 2", "roc2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6014 ; - skos:exactMatch HGNC_symbol:RIT2 ; + skos:exactMatch UMLS:C1419388, + HGNC:10017, + HGNC_symbol:RIT2 ; biolink:category biolink:Gene . OMIM:609593 a owl:Class ; rdfs:label "CARMIL1" ; IAO:0000142 PMID:16054028 ; - oboInOwl:hasDbXref UMLS:C1427628 ; oboInOwl:hasExactSynonym "CARMIL1", "capping protein regulator and myosin 1 linker 1", "carmil, dictyostelium, homolog of", @@ -267985,21 +278219,24 @@ OMIM:609593 a owl:Class ; "lrrc16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55604 ; - skos:exactMatch HGNC_symbol:CARMIL1 ; + skos:exactMatch UMLS:C1427628, + HGNC:21581, + HGNC_symbol:CARMIL1 ; biolink:category biolink:Gene . OMIM:609594 a owl:Class ; rdfs:label "VEPH1" ; IAO:0000142 PMID:11214970, PMID:16054033 ; - oboInOwl:hasDbXref UMLS:C1540179 ; oboInOwl:hasExactSynonym "VEPH1", "kiaa1692", "melted, drosophila, homolog of", "ventricular zone-expressed ph domain-containing protein, zebrafish, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79674 ; - skos:exactMatch HGNC_symbol:VEPH1 ; + skos:exactMatch UMLS:C1540179, + HGNC:25735, + HGNC_symbol:VEPH1 ; biolink:category biolink:Gene . OMIM:609595 a owl:Class ; @@ -268014,7 +278251,6 @@ OMIM:609595 a owl:Class ; PMID:23903657 ; RO:0002525 CHR:9606chr1p34.3 ; RO:0003303 OMIM:610644 ; - oboInOwl:hasDbXref UMLS:C1826944 ; oboInOwl:hasExactSynonym "RSPO1", "cristin3", "flj40906", @@ -268024,7 +278260,9 @@ OMIM:609595 a owl:Class ; "roof plate-specific spondin, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284654 ; - skos:exactMatch HGNC_symbol:RSPO1 ; + skos:exactMatch UMLS:C1826944, + HGNC:21679, + HGNC_symbol:RSPO1 ; biolink:category biolink:Gene . OMIM:609596 a owl:Class ; @@ -268032,7 +278270,6 @@ OMIM:609596 a owl:Class ; IAO:0000142 PMID:12006665, PMID:14519125, PMID:15327989 ; - oboInOwl:hasDbXref UMLS:C1539345 ; oboInOwl:hasExactSynonym "EIF3K", "eif3-p28", "eukaryotic translation initiation factor 3, subunit 12, formerly", @@ -268040,7 +278277,9 @@ OMIM:609596 a owl:Class ; "plac24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27335 ; - skos:exactMatch HGNC_symbol:EIF3K ; + skos:exactMatch UMLS:C1539345, + HGNC:24656, + HGNC_symbol:EIF3K ; biolink:category biolink:Gene . OMIM:609597 a owl:Class ; @@ -268052,24 +278291,25 @@ OMIM:609597 a owl:Class ; PMID:23401352, PMID:24764194, PMID:9374397 ; - oboInOwl:hasDbXref UMLS:C1865044, - ORPHA:60015 ; oboInOwl:hasExactSynonym "PFM2", "parietal foramina 2" ; rdfs:subClassOf OMIMPS:168500 ; + skos:exactMatch UMLS:C1865044, + ORPHA:60015 ; biolink:category biolink:Disease . OMIM:609598 a owl:Class ; rdfs:label "ZHX3" ; IAO:0000142 PMID:12659632, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1423843 ; oboInOwl:hasExactSynonym "ZHX3", "kiaa0395", "zinc finger and homeodomain protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23051 ; - skos:exactMatch HGNC_symbol:ZHX3 ; + skos:exactMatch UMLS:C1423843, + HGNC:15935, + HGNC_symbol:ZHX3 ; biolink:category biolink:Gene . OMIM:609599 a owl:Class ; @@ -268080,36 +278320,39 @@ OMIM:609599 a owl:Class ; PMID:12679596, PMID:14583192, PMID:7730328 ; - oboInOwl:hasDbXref UMLS:C1423753 ; oboInOwl:hasExactSynonym "ANKRD1", "ankyrin repeat domain-containing protein 1", "c193", "cardiac ankyrin repeat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27063 ; - skos:exactMatch HGNC_symbol:ANKRD1 ; + skos:exactMatch UMLS:C1423753, + HGNC:15819, + HGNC_symbol:ANKRD1 ; biolink:category biolink:Gene . OMIM:609600 a owl:Class ; rdfs:label "ZNF396" ; IAO:0000142 PMID:12801647 ; - oboInOwl:hasDbXref UMLS:C1425802 ; oboInOwl:hasExactSynonym "ZNF396", "zinc finger protein 396" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:252884 ; - skos:exactMatch HGNC_symbol:ZNF396 ; + skos:exactMatch UMLS:C1425802, + HGNC:18824, + HGNC_symbol:ZNF396 ; biolink:category biolink:Gene . OMIM:609601 a owl:Class ; rdfs:label "ZNF397" ; IAO:0000142 PMID:12801647 ; - oboInOwl:hasDbXref UMLS:C1425797 ; oboInOwl:hasExactSynonym "ZNF397", "zinc finger protein 397" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84307 ; - skos:exactMatch HGNC_symbol:ZNF397 ; + skos:exactMatch UMLS:C1425797, + HGNC:18818, + HGNC_symbol:ZNF397 ; biolink:category biolink:Gene . OMIM:609602 a owl:Class ; @@ -268117,24 +278360,26 @@ OMIM:609602 a owl:Class ; IAO:0000142 PMID:12351194, PMID:16460907, PMID:19801974 ; - oboInOwl:hasDbXref UMLS:C1825719 ; oboInOwl:hasExactSynonym "KLF17", "kruppel-like factor 17", "zinc finger protein 393" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128209 ; - skos:exactMatch HGNC_symbol:KLF17 ; + skos:exactMatch UMLS:C1825719, + HGNC:18830, + HGNC_symbol:KLF17 ; biolink:category biolink:Gene . OMIM:609603 a owl:Class ; rdfs:label "CRYGN" ; IAO:0000142 PMID:15853812 ; - oboInOwl:hasDbXref UMLS:C1426951 ; oboInOwl:hasExactSynonym "CRYGN", "crystallin, gamma-n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155051 ; - skos:exactMatch HGNC_symbol:CRYGN ; + skos:exactMatch UMLS:C1426951, + HGNC:20458, + HGNC_symbol:CRYGN ; biolink:category biolink:Gene . OMIM:609604 a owl:Class ; @@ -268142,33 +278387,34 @@ OMIM:609604 a owl:Class ; IAO:0000142 PMID:12740394, PMID:15355958, PMID:20562859 ; - oboInOwl:hasDbXref UMLS:C1421946 ; oboInOwl:hasExactSynonym "MAP1LC3B", "lc3b", "microtubule-associated protein 1, light chain 3, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81631 ; - skos:exactMatch HGNC_symbol:MAP1LC3B ; + skos:exactMatch UMLS:C1421946, + HGNC:13352, + HGNC_symbol:MAP1LC3B ; biolink:category biolink:Gene . OMIM:609605 a owl:Class ; rdfs:label "MAP1LC3C" ; IAO:0000142 PMID:12740394, PMID:20562859 ; - oboInOwl:hasDbXref UMLS:C1825942 ; oboInOwl:hasExactSynonym "MAP1LC3C", "lc3c", "microtubule-associated protein 1, light chain 3, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440738 ; - skos:exactMatch HGNC_symbol:MAP1LC3C ; + skos:exactMatch UMLS:C1825942, + HGNC:13353, + HGNC_symbol:MAP1LC3C ; biolink:category biolink:Gene . OMIM:609606 a owl:Class ; rdfs:label "ATG3" ; IAO:0000142 PMID:11825910, PMID:27885029 ; - oboInOwl:hasDbXref UMLS:C1825493 ; oboInOwl:hasExactSynonym "ATG3", "apg3, s. cerevisiae, homolog of", "apg3-like", @@ -268176,7 +278422,9 @@ OMIM:609606 a owl:Class ; "autophagy-related 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64422 ; - skos:exactMatch HGNC_symbol:ATG3 ; + skos:exactMatch UMLS:C1825493, + HGNC:20962, + HGNC_symbol:ATG3 ; biolink:category biolink:Gene . OMIM:609607 a owl:Class ; @@ -268192,7 +278440,6 @@ OMIM:609607 a owl:Class ; PMID:25529316 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:613573 ; - oboInOwl:hasDbXref UMLS:C1426335 ; oboInOwl:hasExactSynonym "NECTIN4", "nectin 4", "nectin cell adhesion molecule 4", @@ -268200,7 +278447,9 @@ OMIM:609607 a owl:Class ; "poliovirus receptor-related 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81607 ; - skos:exactMatch HGNC_symbol:NECTIN4 ; + skos:exactMatch UMLS:C1426335, + HGNC:19688, + HGNC_symbol:NECTIN4 ; biolink:category biolink:Gene . OMIM:609608 a owl:Class ; @@ -268208,7 +278457,6 @@ OMIM:609608 a owl:Class ; IAO:0000142 PMID:11825910, PMID:9490301, PMID:9852036 ; - oboInOwl:hasDbXref UMLS:C1865043 ; oboInOwl:hasExactSynonym "ATG12", "agp12-like", "apg12, s. cerevisiae, homolog of", @@ -268217,7 +278465,9 @@ OMIM:609608 a owl:Class ; "fbr93" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9140 ; - skos:exactMatch HGNC_symbol:ATG12 ; + skos:exactMatch UMLS:C1865043, + HGNC:588, + HGNC_symbol:ATG12 ; biolink:category biolink:Gene . OMIM:609609 a owl:Class ; @@ -268230,26 +278480,28 @@ OMIM:609610 a owl:Class ; PMID:25817018 ; RO:0002525 CHR:9606chr15q15.3 ; RO:0003303 OMIM:616335 ; - oboInOwl:hasDbXref UMLS:C1865042 ; oboInOwl:hasExactSynonym "TUBGCP4", "gamma-tubulin complex component 4", "tubulin-gamma complex-associated protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27229 ; - skos:exactMatch HGNC_symbol:TUBGCP4 ; + skos:exactMatch UMLS:C1865042, + HGNC:16691, + HGNC_symbol:TUBGCP4 ; biolink:category biolink:Gene . OMIM:609611 a owl:Class ; rdfs:label "ANP32E" ; IAO:0000142 PMID:12438741, PMID:24463511 ; - oboInOwl:hasDbXref UMLS:C1424481 ; oboInOwl:hasExactSynonym "ANP32E", "acidic leucine-rich nuclear phosphoprotein 32 family, member e", "leucine-rich acidic nuclear protein-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81611 ; - skos:exactMatch HGNC_symbol:ANP32E ; + skos:exactMatch UMLS:C1424481, + HGNC:16673, + HGNC_symbol:ANP32E ; biolink:category biolink:Gene . OMIM:609612 a owl:Class ; @@ -268257,12 +278509,12 @@ OMIM:609612 a owl:Class ; IAO:0000142 PMID:15808269, PMID:2760786, PMID:9544647 ; - oboInOwl:hasDbXref UMLS:C1865040, - UMLS:C1865041 ; oboInOwl:hasExactSynonym "congenital fibrosis syndrome with synergistic divergence", "external ophthalmoplegia with synergistic divergence", "external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation", - "fibrosis of extraocular muscles, congenital, with synergistic divergence" . + "fibrosis of extraocular muscles, congenital, with synergistic divergence" ; + skos:exactMatch UMLS:C1865040, + UMLS:C1865041 . OMIM:609613 a owl:Class ; rdfs:label "PLEKHM2" ; @@ -268270,20 +278522,20 @@ OMIM:609613 a owl:Class ; PMID:15905402, PMID:23162002, PMID:26464484 ; - oboInOwl:hasDbXref UMLS:C1428794 ; oboInOwl:hasExactSynonym "PLEKHM2", "kiaa0842", "pleckstrin homology domain-containing protein, family m, member 2", "sifa- and kinesin-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23207 ; - skos:exactMatch HGNC_symbol:PLEKHM2 ; + skos:exactMatch UMLS:C1428794, + HGNC:29131, + HGNC_symbol:PLEKHM2 ; biolink:category biolink:Gene . OMIM:609614 a owl:Class ; rdfs:label "REXO1" ; IAO:0000142 PMID:12943681 ; - oboInOwl:hasDbXref UMLS:C1826798 ; oboInOwl:hasExactSynonym "REXO1", "RNA exonuclease 1 homolog", "RNA exonuclease 1, s. cerevisiae, homolog of", @@ -268293,13 +278545,14 @@ OMIM:609614 a owl:Class ; "transcription elongation factor B polypeptide 3-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57455 ; - skos:exactMatch HGNC_symbol:REXO1 ; + skos:exactMatch UMLS:C1826798, + HGNC:24616, + HGNC_symbol:REXO1 ; biolink:category biolink:Gene . OMIM:609615 a owl:Class ; rdfs:label "QTRT1" ; IAO:0000142 PMID:11255023 ; - oboInOwl:hasDbXref UMLS:C1428265 ; oboInOwl:hasExactSynonym "QTRT1", "queuine trna-ribosyltransferase 1", "tgt, 43-kd subunit", @@ -268307,14 +278560,16 @@ OMIM:609615 a owl:Class ; "trna-guanine transglycosylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81890 ; - skos:exactMatch HGNC_symbol:QTRT1 ; + skos:exactMatch UMLS:C1428265, + HGNC:23797, + HGNC_symbol:QTRT1 ; biolink:category biolink:Gene . OMIM:609616 a owl:Class ; rdfs:label "spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness" ; IAO:0000142 PMID:15954110 ; - oboInOwl:hasDbXref UMLS:C1865022 ; - oboInOwl:hasExactSynonym "spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness" . + oboInOwl:hasExactSynonym "spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness" ; + skos:exactMatch UMLS:C1865022 . OMIM:609617 a owl:Class ; rdfs:label "SLC30A2" ; @@ -268325,24 +278580,26 @@ OMIM:609617 a owl:Class ; PMID:8617223 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:608118 ; - oboInOwl:hasDbXref UMLS:C1420179 ; oboInOwl:hasExactSynonym "SLC30A2", "solute carrier family 30 (zinc transporter), member 2", "zinc transporter 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7780 ; - skos:exactMatch HGNC_symbol:SLC30A2 ; + skos:exactMatch UMLS:C1420179, + HGNC:11013, + HGNC_symbol:SLC30A2 ; biolink:category biolink:Gene . OMIM:609618 a owl:Class ; rdfs:label "NRON" ; IAO:0000142 PMID:16141075 ; - oboInOwl:hasDbXref UMLS:C1865021 ; oboInOwl:hasExactSynonym "NRON", "noncoding repressor of nfat" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641373 ; - skos:exactMatch HGNC_symbol:NRON ; + skos:exactMatch UMLS:C1865021, + HGNC:37079, + HGNC_symbol:NRON ; biolink:category biolink:Gene . OMIM:609619 a owl:Class ; @@ -268350,13 +278607,14 @@ OMIM:609619 a owl:Class ; IAO:0000142 PMID:10048485, PMID:10660574, PMID:10677249 ; - oboInOwl:hasDbXref UMLS:C1825386 ; oboInOwl:hasExactSynonym "GOLGA8B", "golgi autoantigen, golgin subfamily a, 8b", "golgin a8 family, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440270 ; - skos:exactMatch HGNC_symbol:GOLGA8B ; + skos:exactMatch UMLS:C1825386, + HGNC:31973, + HGNC_symbol:GOLGA8B ; biolink:category biolink:Gene . OMIM:609620 a owl:Class ; @@ -268370,10 +278628,10 @@ OMIM:609620 a owl:Class ; PMID:15890322, PMID:16132053, PMID:26168993 ; - oboInOwl:hasDbXref UMLS:C1865020 ; oboInOwl:hasExactSynonym "SQT1", "short qt syndrome 1" ; rdfs:subClassOf OMIMPS:609620 ; + skos:exactMatch UMLS:C1865020 ; biolink:category biolink:Disease . OMIM:609621 a owl:Class ; @@ -268383,33 +278641,35 @@ OMIM:609621 a owl:Class ; PMID:16109388, PMID:24818999, PMID:26168993 ; - oboInOwl:hasDbXref UMLS:C1865019 ; oboInOwl:hasExactSynonym "SQT2", "short qt syndrome 2" ; rdfs:subClassOf OMIMPS:609620 ; + skos:exactMatch UMLS:C1865019 ; biolink:category biolink:Disease . OMIM:609623 a owl:Class ; rdfs:label "RASIP1" ; IAO:0000142 PMID:15031288 ; - oboInOwl:hasDbXref UMLS:C1428404 ; oboInOwl:hasExactSynonym "RASIP1", "rain", "ras-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54922 ; - skos:exactMatch HGNC_symbol:RASIP1 ; + skos:exactMatch UMLS:C1428404, + HGNC:24716, + HGNC_symbol:RASIP1 ; biolink:category biolink:Gene . OMIM:609624 a owl:Class ; rdfs:label "MCCD1" ; IAO:0000142 PMID:14527716 ; - oboInOwl:hasDbXref UMLS:C1427068 ; oboInOwl:hasExactSynonym "MCCD1", "mitochondrial coiled-coil domain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401250 ; - skos:exactMatch HGNC_symbol:MCCD1 ; + skos:exactMatch UMLS:C1427068, + HGNC:20668, + HGNC_symbol:MCCD1 ; biolink:category biolink:Gene . OMIM:609625 a owl:Class ; @@ -268425,37 +278685,39 @@ OMIM:609625 a owl:Class ; PMID:3970071, PMID:669716 ; RO:0002525 CHR:9606chr10q26 ; - oboInOwl:hasDbXref UMLS:C2674937 ; oboInOwl:hasExactSynonym "chromosome 10q26 deletion syndrome", "terminal chromosome 10q26 deletion syndrome" ; + skos:exactMatch UMLS:C2674937 ; biolink:category biolink:Disease . OMIM:609626 a owl:Class ; rdfs:label "MDGA1" ; IAO:0000142 PMID:10404083, PMID:12082541 ; - oboInOwl:hasDbXref UMLS:C1426132 ; oboInOwl:hasExactSynonym "MDGA1", "glycosylphosphatidylinositol-mam", "mam domain-containing glycosylphosphatidylinositol anchor 1", "mam domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266727 ; - skos:exactMatch HGNC_symbol:MDGA1 ; + skos:exactMatch UMLS:C1426132, + HGNC:19267, + HGNC_symbol:MDGA1 ; biolink:category biolink:Gene . OMIM:609627 a owl:Class ; rdfs:label "TAS2R50" ; IAO:0000142 PMID:12584440, PMID:16175505 ; - oboInOwl:hasDbXref UMLS:C1425852 ; oboInOwl:hasExactSynonym "TAS2R50", "t2r50", "tas2r51", "taste receptor, iia 2, member 50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259296 ; - skos:exactMatch HGNC_symbol:TAS2R50 ; + skos:exactMatch UMLS:C1425852, + HGNC:18882, + HGNC_symbol:TAS2R50 ; biolink:category biolink:Gene . OMIM:609629 a owl:Class ; @@ -268465,13 +278727,13 @@ OMIM:609629 a owl:Class ; PMID:1864212, PMID:3770377, PMID:7438508 ; - oboInOwl:hasDbXref UMLS:C1864996 ; oboInOwl:hasExactSynonym "VSCN3", "enteric neuropathy, familial", "pseudoobstruction, chronic intestinal, neuropathic", "pseudoobstruction, idiopathic intestinal", "visceral neuropathy, familial, 3, autosomal dominant" ; rdfs:subClassOf OMIMPS:243180 ; + skos:exactMatch UMLS:C1864996 ; biolink:category biolink:Disease . OMIM:609631 a owl:Class ; @@ -268502,8 +278764,6 @@ OMIM:609631 a owl:Class ; PMID:26525917 ; RO:0002525 CHR:9606chr9p21.1 ; RO:0003303 OMIM:616298 ; - oboInOwl:hasDbXref UMLS:C1539233, - UMLS:C4225380 ; oboInOwl:hasExactSynonym "DDX58", "dead-box polypeptide 58", "dead/h-box 58", @@ -268511,7 +278771,10 @@ OMIM:609631 a owl:Class ; "retinoic acid-inducible gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23586 ; - skos:exactMatch HGNC_symbol:DDX58 ; + skos:exactMatch UMLS:C1539233, + UMLS:C4225380, + HGNC:19102, + HGNC_symbol:DDX58 ; biolink:category biolink:Gene . OMIM:609632 a owl:Class ; @@ -268521,27 +278784,29 @@ OMIM:609632 a owl:Class ; PMID:18667693, PMID:19766572, PMID:23329048 ; - oboInOwl:hasDbXref UMLS:C1539559 ; oboInOwl:hasExactSynonym "GDPD5", "glycerophosphodiester phosphodiesterase 2", "glycerophosphodiester phosphodiesterase domain-containing protein 5", "pp1665" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81544 ; - skos:exactMatch HGNC_symbol:GDPD5 ; + skos:exactMatch UMLS:C1539559, + HGNC:28804, + HGNC_symbol:GDPD5 ; biolink:category biolink:Gene . OMIM:609635 a owl:Class ; rdfs:label "TCF23" ; IAO:0000142 PMID:10652346, PMID:11701948 ; - oboInOwl:hasDbXref UMLS:C1425640 ; oboInOwl:hasExactSynonym "TCF23", "out", "transcription factor 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150921 ; - skos:exactMatch HGNC_symbol:TCF23 ; + skos:exactMatch UMLS:C1425640, + HGNC:18602, + HGNC_symbol:TCF23 ; biolink:category biolink:Gene . OMIM:609638 a owl:Class ; @@ -268549,21 +278814,22 @@ OMIM:609638 a owl:Class ; IAO:0000142 PMID:16175511, PMID:20302578, PMID:20613772 ; - oboInOwl:hasDbXref UMLS:C1864826 ; oboInOwl:hasExactSynonym "EBLA", "epidermolysis bullosa, lethal acantholytic", "lethal acantholytic epidermolysis bullosa" ; + skos:exactMatch UMLS:C1864826 ; biolink:category biolink:Disease . OMIM:609639 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15855277 ; - oboInOwl:hasDbXref UMLS:C1825450 ; oboInOwl:hasExactSynonym "hbm", "hemoglobin mu" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3042 ; - skos:exactMatch HGNC_symbol:HBM ; + skos:exactMatch UMLS:C1825450, + HGNC:4826, + HGNC_symbol:HBM ; biolink:category biolink:Gene . OMIM:609640 a owl:Class ; @@ -268571,10 +278837,10 @@ OMIM:609640 a owl:Class ; IAO:0000142 PMID:16088912, PMID:24311462 ; RO:0002525 CHR:9606chr14q22.1-q22.3 ; - oboInOwl:hasDbXref UMLS:C1864825 ; oboInOwl:hasExactSynonym "chromosome 14q22 deletion syndrome", "frias syndrome", "growth deficiency, facial anomalies, and brachydactyly" ; + skos:exactMatch UMLS:C1864825 ; biolink:category biolink:Disease . OMIM:609641 a owl:Class ; @@ -268583,7 +278849,6 @@ OMIM:609641 a owl:Class ; PMID:15919898, PMID:15919899, PMID:19483676 ; - oboInOwl:hasDbXref UMLS:C1864824 ; oboInOwl:hasExactSynonym "EIF3M", "dendritic cell protein ga17", "eukaryotic translation initiation factor 3, subunit m", @@ -268591,7 +278856,9 @@ OMIM:609641 a owl:Class ; "pci domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10480 ; - skos:exactMatch HGNC_symbol:EIF3M ; + skos:exactMatch UMLS:C1864824, + HGNC:24460, + HGNC_symbol:EIF3M ; biolink:category biolink:Gene . OMIM:609642 a owl:Class ; @@ -268599,27 +278866,26 @@ OMIM:609642 a owl:Class ; IAO:0000142 PMID:10430935, PMID:10931945, PMID:15150260 ; - oboInOwl:hasDbXref UMLS:C2982394 ; oboInOwl:hasExactSynonym "t-cell antigen receptor, gamma subunit, alternate reading frame protein", "tcrg alternate reading frame protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:445347 ; + skos:exactMatch UMLS:C2982394 ; biolink:category biolink:Gene . OMIM:609643 a owl:Class ; rdfs:label "nguyen syndrome" ; IAO:0000142 PMID:12910487, PMID:16088930 ; - oboInOwl:hasDbXref UMLS:C1864823 ; oboInOwl:hasExactSynonym "mca/mr with hypocholesterolemia due to familial hypobetalipoproteinemia", "nguyen syndrome" ; + skos:exactMatch UMLS:C1864823 ; biolink:category biolink:Disease . OMIM:609645 a owl:Class ; rdfs:label "NLRP4" ; IAO:0000142 PMID:12093792, PMID:12563287 ; - oboInOwl:hasDbXref UMLS:C1427798 ; oboInOwl:hasExactSynonym "NLRP4", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 4", "nlr family, pyrin domain-containing 4", @@ -268627,7 +278893,9 @@ OMIM:609645 a owl:Class ; "pyrin domain-containing apaf1-like protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147945 ; - skos:exactMatch HGNC_symbol:NLRP4 ; + skos:exactMatch UMLS:C1427798, + HGNC:22943, + HGNC_symbol:NLRP4 ; biolink:category biolink:Gene . OMIM:609648 a owl:Class ; @@ -268645,7 +278913,6 @@ OMIM:609648 a owl:Class ; PMID:27779193 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:611762 ; - oboInOwl:hasDbXref UMLS:C1864814 ; oboInOwl:hasExactSynonym "NLRP12", "monarch 1", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 12", @@ -268654,7 +278921,9 @@ OMIM:609648 a owl:Class ; "regulated by nitric oxide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91662 ; - skos:exactMatch HGNC_symbol:NLRP12 ; + skos:exactMatch UMLS:C1864814, + HGNC:22938, + HGNC_symbol:NLRP12 ; biolink:category biolink:Gene . OMIM:609650 a owl:Class ; @@ -268665,40 +278934,43 @@ OMIM:609650 a owl:Class ; PMID:22763455, PMID:24581500, PMID:26494172 ; - oboInOwl:hasDbXref UMLS:C1826439 ; oboInOwl:hasExactSynonym "NLRP6", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 6", "nlr family, pyrin domain-containing 6", "pyrin domain-containing apaf1-like protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171389 ; - skos:exactMatch HGNC_symbol:NLRP6 ; + skos:exactMatch UMLS:C1826439, + HGNC:22944, + HGNC_symbol:NLRP6 ; biolink:category biolink:Gene . OMIM:609651 a owl:Class ; rdfs:label "GPHA2" ; IAO:0000142 PMID:12045258, PMID:12089349 ; - oboInOwl:hasDbXref UMLS:C1425268 ; oboInOwl:hasExactSynonym "GPHA2", "glycoprotein hormone, alpha-2", "gpa2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170589 ; - skos:exactMatch HGNC_symbol:GPHA2 ; + skos:exactMatch UMLS:C1425268, + HGNC:18054, + HGNC_symbol:GPHA2 ; biolink:category biolink:Gene . OMIM:609652 a owl:Class ; rdfs:label "GPHB5" ; IAO:0000142 PMID:12045258, PMID:12089349 ; - oboInOwl:hasDbXref UMLS:C1539600 ; oboInOwl:hasExactSynonym "GPHB5", "glycoprotein hormone, beta-5", "gpb5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122876 ; - skos:exactMatch HGNC_symbol:GPHB5 ; + skos:exactMatch UMLS:C1539600, + HGNC:18055, + HGNC_symbol:GPHB5 ; biolink:category biolink:Gene . OMIM:609653 a owl:Class ; @@ -268711,7 +278983,6 @@ OMIM:609653 a owl:Class ; PMID:20818383 ; RO:0002525 CHR:9606chr5q12.1 ; RO:0003303 OMIM:618233 ; - oboInOwl:hasDbXref UMLS:C1826392 ; oboInOwl:hasExactSynonym "NADH dehydrogenase (ubiquinone) complex i, assembly factor 2", "NADH dehydrogenase 1 alpha subcomplex, assembly factor 2", "NDUFAF2", @@ -268722,20 +278993,22 @@ OMIM:609653 a owl:Class ; "ndufa12-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91942 ; - skos:exactMatch HGNC_symbol:NDUFAF2 ; + skos:exactMatch UMLS:C1826392, + HGNC:28086, + HGNC_symbol:NDUFAF2 ; biolink:category biolink:Gene . OMIM:609654 a owl:Class ; rdfs:label "short stature and facioauriculothoracic malformations" ; IAO:0000142 PMID:15264289 ; - oboInOwl:hasDbXref UMLS:C1864791 ; - oboInOwl:hasExactSynonym "short stature and facioauriculothoracic malformations" . + oboInOwl:hasExactSynonym "short stature and facioauriculothoracic malformations" ; + skos:exactMatch UMLS:C1864791 . OMIM:609655 a owl:Class ; rdfs:label "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" ; IAO:0000142 PMID:12910489 ; - oboInOwl:hasDbXref UMLS:C1864784 ; - oboInOwl:hasExactSynonym "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" . + oboInOwl:hasExactSynonym "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" ; + skos:exactMatch UMLS:C1864784 . OMIM:609658 a owl:Class ; rdfs:label "NLRP5" ; @@ -268748,20 +279021,20 @@ OMIM:609658 a owl:Class ; PMID:22357545, PMID:25542835, PMID:26323243 ; - oboInOwl:hasDbXref UMLS:C1826438 ; oboInOwl:hasExactSynonym "NLRP5", "mater, mouse, homolog of", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 5", "nlr family, pyrin domain-containing 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126206 ; - skos:exactMatch HGNC_symbol:NLRP5 ; + skos:exactMatch UMLS:C1826438, + HGNC:21269, + HGNC_symbol:NLRP5 ; biolink:category biolink:Gene . OMIM:609659 a owl:Class ; rdfs:label "NLRP8" ; IAO:0000142 PMID:12563287 ; - oboInOwl:hasDbXref UMLS:C1427795 ; oboInOwl:hasExactSynonym "NLRP8", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 8", "nlr family, pyrin domain-containing 8", @@ -268769,20 +279042,23 @@ OMIM:609659 a owl:Class ; "pyrin domain- and nacht domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126205 ; - skos:exactMatch HGNC_symbol:NLRP8 ; + skos:exactMatch UMLS:C1427795, + HGNC:22940, + HGNC_symbol:NLRP8 ; biolink:category biolink:Gene . OMIM:609660 a owl:Class ; rdfs:label "NLRP13" ; IAO:0000142 PMID:12563287 ; - oboInOwl:hasDbXref UMLS:C1427792 ; oboInOwl:hasExactSynonym "NLRP13", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 13", "nlr family, pyrin domain-containing 13", "nod14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126204 ; - skos:exactMatch HGNC_symbol:NLRP13 ; + skos:exactMatch UMLS:C1427792, + HGNC:22937, + HGNC_symbol:NLRP13 ; biolink:category biolink:Gene . OMIM:609661 a owl:Class ; @@ -268810,7 +279086,6 @@ OMIM:609661 a owl:Class ; PMID:25376457 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:231090 ; - oboInOwl:hasDbXref UMLS:C1427802 ; oboInOwl:hasExactSynonym "NLRP7", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 7", "nlr family, pyrin domain-containing 7", @@ -268818,7 +279093,9 @@ OMIM:609661 a owl:Class ; "pyrin domain-containing apaf1-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199713 ; - skos:exactMatch HGNC_symbol:NLRP7 ; + skos:exactMatch UMLS:C1427802, + HGNC:22947, + HGNC_symbol:NLRP7 ; biolink:category biolink:Gene . OMIM:609662 a owl:Class ; @@ -268827,7 +279104,6 @@ OMIM:609662 a owl:Class ; PMID:15096476, PMID:22538615, PMID:23071280 ; - oboInOwl:hasDbXref UMLS:C1826441 ; oboInOwl:hasExactSynonym "NLRP10", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 10", "nlr family, pyrin domain-containing 10", @@ -268835,7 +279111,9 @@ OMIM:609662 a owl:Class ; "pynod" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338322 ; - skos:exactMatch HGNC_symbol:NLRP10 ; + skos:exactMatch UMLS:C1826441, + HGNC:21464, + HGNC_symbol:NLRP10 ; biolink:category biolink:Gene . OMIM:609663 a owl:Class ; @@ -268843,21 +279121,21 @@ OMIM:609663 a owl:Class ; IAO:0000142 PMID:12563287, PMID:12766759, PMID:28636595 ; - oboInOwl:hasDbXref UMLS:C1427796 ; oboInOwl:hasExactSynonym "NLRP9", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 9", "nlr family, pyrin domain-containing 9", "nod6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338321 ; - skos:exactMatch HGNC_symbol:NLRP9 ; + skos:exactMatch UMLS:C1427796, + HGNC:22941, + HGNC_symbol:NLRP9 ; biolink:category biolink:Gene . OMIM:609664 a owl:Class ; rdfs:label "NLRP11" ; IAO:0000142 PMID:12563287, PMID:12766759 ; - oboInOwl:hasDbXref UMLS:C1427800 ; oboInOwl:hasExactSynonym "NLRP11", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 11", "nlr family, pyrin domain-containing 11", @@ -268865,21 +279143,24 @@ OMIM:609664 a owl:Class ; "pyrin domain-containing apaf1-like protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:204801 ; - skos:exactMatch HGNC_symbol:NLRP11 ; + skos:exactMatch UMLS:C1427800, + HGNC:22945, + HGNC_symbol:NLRP11 ; biolink:category biolink:Gene . OMIM:609665 a owl:Class ; rdfs:label "NLRP14" ; IAO:0000142 PMID:12563287, PMID:12766759 ; - oboInOwl:hasDbXref UMLS:C1427794 ; oboInOwl:hasExactSynonym "NLRP14", "nacht domain-, leucine-rich repeat-, and pyd-containing protein 14", "nlr family, pyrin domain-containing 14", "nod5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338323 ; - skos:exactMatch HGNC_symbol:NLRP14 ; + skos:exactMatch UMLS:C1427794, + HGNC:22939, + HGNC_symbol:NLRP14 ; biolink:category biolink:Gene . OMIM:609666 a owl:Class ; @@ -268887,38 +279168,41 @@ OMIM:609666 a owl:Class ; IAO:0000142 PMID:10574461, PMID:10753632, PMID:19387438 ; - oboInOwl:hasDbXref UMLS:C1425366 ; oboInOwl:hasExactSynonym "TPCN1", "kiaa1169", "two-pore channel 1", "two-pore segment channel 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53373 ; - skos:exactMatch HGNC_symbol:TPCN1 ; + skos:exactMatch UMLS:C1425366, + HGNC:18182, + HGNC_symbol:TPCN1 ; biolink:category biolink:Gene . OMIM:609667 a owl:Class ; rdfs:label "TAGAP" ; IAO:0000142 PMID:15177553 ; - oboInOwl:hasDbXref UMLS:C1423645 ; oboInOwl:hasExactSynonym "TAGAP", "t-cell activation gtpase-activating protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117289 ; - skos:exactMatch HGNC_symbol:TAGAP ; + skos:exactMatch UMLS:C1423645, + HGNC:15669, + HGNC_symbol:TAGAP ; biolink:category biolink:Gene . OMIM:609668 a owl:Class ; rdfs:label "PPTC7" ; IAO:0000142 PMID:15177553 ; - oboInOwl:hasDbXref UMLS:C1826668 ; oboInOwl:hasExactSynonym "PPTC7", "protein phosphatase targeting coq7", "ptc7 protein phosphatase, s. cerevisiae, homolog of", "t-cell activation protein phosphatase 2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160760 ; - skos:exactMatch HGNC_symbol:PPTC7 ; + skos:exactMatch UMLS:C1826668, + HGNC:30695, + HGNC_symbol:PPTC7 ; biolink:category biolink:Gene . OMIM:609669 a owl:Class ; @@ -268932,14 +279216,15 @@ OMIM:609669 a owl:Class ; PMID:19150991 ; RO:0002525 CHR:9606chr5q22.1 ; RO:0003303 OMIM:609887 ; - oboInOwl:hasDbXref UMLS:C1428992 ; oboInOwl:hasExactSynonym "WDR36", "t-cell activation wd repeat-containing protein", "utp21, s. cerevisiae, homolog of", "wd repeat-containing protein 36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134430 ; - skos:exactMatch HGNC_symbol:WDR36 ; + skos:exactMatch UMLS:C1428992, + HGNC:30696, + HGNC_symbol:WDR36 ; biolink:category biolink:Gene . OMIM:609671 a owl:Class ; @@ -268951,14 +279236,15 @@ OMIM:609671 a owl:Class ; PMID:22031863 ; RO:0002525 CHR:9606chr2q14.2 ; RO:0003303 OMIM:615234 ; - oboInOwl:hasDbXref UMLS:C1864771 ; oboInOwl:hasExactSynonym "STEAP3", "six-transmembrane epithelial antigen of prostate 3", "steap3 metalloreductase", "tumor suppressor-activated pathway 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55240 ; - skos:exactMatch HGNC_symbol:STEAP3 ; + skos:exactMatch UMLS:C1864771, + HGNC:24592, + HGNC_symbol:STEAP3 ; biolink:category biolink:Gene . OMIM:609672 a owl:Class ; @@ -268966,7 +279252,6 @@ OMIM:609672 a owl:Class ; IAO:0000142 PMID:15205466, PMID:16227995, PMID:20944747 ; - oboInOwl:hasDbXref UMLS:C1427982 ; oboInOwl:hasExactSynonym "EXOC6", "exocyst complex component 6", "sec15, s. cerevisiae, homolog of", @@ -268974,7 +279259,9 @@ OMIM:609672 a owl:Class ; "sec15l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54536 ; - skos:exactMatch HGNC_symbol:EXOC6 ; + skos:exactMatch UMLS:C1427982, + HGNC:23196, + HGNC_symbol:EXOC6 ; biolink:category biolink:Gene . OMIM:609673 a owl:Class ; @@ -268986,14 +279273,15 @@ OMIM:609673 a owl:Class ; PMID:15271796, PMID:15611105, PMID:25391964 ; - oboInOwl:hasDbXref UMLS:C1428985 ; oboInOwl:hasExactSynonym "PDGFD", "iris-expressed growth factor", "platelet-derived growth factor d", "spinal cord-derived growth factor B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80310 ; - skos:exactMatch HGNC_symbol:PDGFD ; + skos:exactMatch UMLS:C1428985, + HGNC:30620, + HGNC_symbol:PDGFD ; biolink:category biolink:Gene . OMIM:609674 a owl:Class ; @@ -269006,7 +279294,6 @@ OMIM:609674 a owl:Class ; PMID:18653893, PMID:18653894, PMID:19907496 ; - oboInOwl:hasDbXref UMLS:C1539366 ; oboInOwl:hasExactSynonym "ESCO1", "ctf7, s. cerevisiae, homolog of, 1", "eco1, s. cerevisiae, homolog of, 1", @@ -269017,7 +279304,9 @@ OMIM:609674 a owl:Class ; "kiaa1911" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114799 ; - skos:exactMatch HGNC_symbol:ESCO1 ; + skos:exactMatch UMLS:C1539366, + HGNC:24645, + HGNC_symbol:ESCO1 ; biolink:category biolink:Gene . OMIM:609675 a owl:Class ; @@ -269028,7 +279317,6 @@ OMIM:609675 a owl:Class ; PMID:16341262, PMID:21108386, PMID:32820125 ; - oboInOwl:hasDbXref UMLS:C1427738 ; oboInOwl:hasExactSynonym "SOSTDC1", "ectodermal bmp inhibitor", "ectodin", @@ -269037,7 +279325,9 @@ OMIM:609675 a owl:Class ; "wise" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25928 ; - skos:exactMatch HGNC_symbol:SOSTDC1 ; + skos:exactMatch UMLS:C1427738, + HGNC:21748, + HGNC_symbol:SOSTDC1 ; biolink:category biolink:Gene . OMIM:609676 a owl:Class ; @@ -269062,7 +279352,6 @@ OMIM:609676 a owl:Class ; PMID:27633528, PMID:28414768, PMID:29074761 ; - oboInOwl:hasDbXref UMLS:C1864770 ; oboInOwl:hasExactSynonym "MAVS", "card adaptor inducing ifnb", "ifnb promoter stimulator 1", @@ -269071,7 +279360,9 @@ OMIM:609676 a owl:Class ; "virus-induced signaling adaptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57506 ; - skos:exactMatch HGNC_symbol:MAVS ; + skos:exactMatch UMLS:C1864770, + HGNC:29233, + HGNC_symbol:MAVS ; biolink:category biolink:Gene . OMIM:609677 a owl:Class ; @@ -269086,7 +279377,6 @@ OMIM:609677 a owl:Class ; PMID:8634085, PMID:9498564, PMID:9562620 ; - oboInOwl:hasDbXref UMLS:C1864769 ; oboInOwl:hasExactSynonym "OS9", "amplified 1n osteosarcoma 9", "endoplasmic reticulum lectin os9", @@ -269094,7 +279384,9 @@ OMIM:609677 a owl:Class ; "osteosarcoma-amplified gene 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10956 ; - skos:exactMatch HGNC_symbol:OS9 ; + skos:exactMatch UMLS:C1864769, + HGNC:16994, + HGNC_symbol:OS9 ; biolink:category biolink:Gene . OMIM:609678 a owl:Class ; @@ -269114,13 +279406,14 @@ OMIM:609678 a owl:Class ; PMID:20351724 ; RO:0002525 CHR:9606chr13q31.1 ; RO:0003303 OMIM:137580 ; - oboInOwl:hasDbXref UMLS:C1426840 ; oboInOwl:hasExactSynonym "SLITRK1", "kiaa1910", "slit- and ntrk-like family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114798 ; - skos:exactMatch HGNC_symbol:SLITRK1 ; + skos:exactMatch UMLS:C1426840, + HGNC:20297, + HGNC_symbol:SLITRK1 ; biolink:category biolink:Gene . OMIM:609679 a owl:Class ; @@ -269128,13 +279421,14 @@ OMIM:609679 a owl:Class ; IAO:0000142 PMID:10048485, PMID:14550773, PMID:14557068 ; - oboInOwl:hasDbXref UMLS:C1428105 ; oboInOwl:hasExactSynonym "SLITRK3", "kiaa0848", "slit- and ntrk-like family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22865 ; - skos:exactMatch HGNC_symbol:SLITRK3 ; + skos:exactMatch UMLS:C1428105, + HGNC:23501, + HGNC_symbol:SLITRK3 ; biolink:category biolink:Gene . OMIM:609680 a owl:Class ; @@ -269143,13 +279437,14 @@ OMIM:609680 a owl:Class ; PMID:14550773, PMID:14557068, PMID:20418887 ; - oboInOwl:hasDbXref UMLS:C1539787 ; oboInOwl:hasExactSynonym "SLITRK5", "kiaa0918", "slit- and ntrk-like family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26050 ; - skos:exactMatch HGNC_symbol:SLITRK5 ; + skos:exactMatch UMLS:C1539787, + HGNC:20295, + HGNC_symbol:SLITRK5 ; biolink:category biolink:Gene . OMIM:609681 a owl:Class ; @@ -269160,12 +279455,13 @@ OMIM:609681 a owl:Class ; PMID:23543054 ; RO:0002525 CHR:9606chr13q31.1 ; RO:0003303 OMIM:221200 ; - oboInOwl:hasDbXref UMLS:C1428107 ; oboInOwl:hasExactSynonym "SLITRK6", "slit- and ntrk-like family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84189 ; - skos:exactMatch HGNC_symbol:SLITRK6 ; + skos:exactMatch UMLS:C1428107, + HGNC:23503, + HGNC_symbol:SLITRK6 ; biolink:category biolink:Gene . OMIM:609682 a owl:Class ; @@ -269174,7 +279470,6 @@ OMIM:609682 a owl:Class ; PMID:12446782, PMID:7788527, PMID:9806498 ; - oboInOwl:hasDbXref UMLS:C1425027 ; oboInOwl:hasExactSynonym "DCLRE1A", "DNA cross-link repair protein 1a", "kiaa0086", @@ -269182,7 +279477,9 @@ OMIM:609682 a owl:Class ; "snm1, s. cerevisiae, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9937 ; - skos:exactMatch HGNC_symbol:DCLRE1A ; + skos:exactMatch UMLS:C1425027, + HGNC:17660, + HGNC_symbol:DCLRE1A ; biolink:category biolink:Gene . OMIM:609683 a owl:Class ; @@ -269192,14 +279489,15 @@ OMIM:609683 a owl:Class ; PMID:16730175, PMID:18202258, PMID:20655466 ; - oboInOwl:hasDbXref UMLS:C1425019 ; oboInOwl:hasExactSynonym "DCLRE1B", "DNA cross-link repair protein 1b", "apollo", "snm1, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64858 ; - skos:exactMatch HGNC_symbol:DCLRE1B ; + skos:exactMatch UMLS:C1425019, + HGNC:17641, + HGNC_symbol:DCLRE1B ; biolink:category biolink:Gene . OMIM:609684 a owl:Class ; @@ -269207,12 +279505,13 @@ OMIM:609684 a owl:Class ; IAO:0000142 PMID:11549320, PMID:12370246, PMID:14576188 ; - oboInOwl:hasDbXref UMLS:C1422122 ; oboInOwl:hasExactSynonym "MAL2", "mal proteolipid protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114569 ; - skos:exactMatch HGNC_symbol:MAL2 ; + skos:exactMatch UMLS:C1422122, + HGNC:13634, + HGNC_symbol:MAL2 ; biolink:category biolink:Gene . OMIM:609685 a owl:Class ; @@ -269220,7 +279519,6 @@ OMIM:609685 a owl:Class ; IAO:0000142 PMID:15654081, PMID:15994933, PMID:16829576 ; - oboInOwl:hasDbXref UMLS:C1824685 ; oboInOwl:hasExactSynonym "CDCA7L", "cdca7-like", "cell division cycle-associated protein 7-like", @@ -269228,20 +279526,23 @@ OMIM:609685 a owl:Class ; "r1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55536 ; - skos:exactMatch HGNC_symbol:CDCA7L ; + skos:exactMatch UMLS:C1824685, + HGNC:30777, + HGNC_symbol:CDCA7L ; biolink:category biolink:Gene . OMIM:609686 a owl:Class ; rdfs:label "CLYBL" ; IAO:0000142 PMID:11741334, PMID:24334609 ; - oboInOwl:hasDbXref UMLS:C1425467 ; oboInOwl:hasExactSynonym "CLYBL", "citrate lyase beta-like", "citrate lyase, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171425 ; - skos:exactMatch HGNC_symbol:CLYBL ; + skos:exactMatch UMLS:C1425467, + HGNC:18355, + HGNC_symbol:CLYBL ; biolink:category biolink:Gene . OMIM:609687 a owl:Class ; @@ -269249,14 +279550,15 @@ OMIM:609687 a owl:Class ; IAO:0000142 PMID:12554859, PMID:12624257, PMID:15105502 ; - oboInOwl:hasDbXref UMLS:C1537831 ; oboInOwl:hasExactSynonym "MIR196A2", "micro RNA 196a2", "mirn196a2", "mirna196a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406973 ; - skos:exactMatch HGNC_symbol:MIR196A2 ; + skos:exactMatch UMLS:C1537831, + HGNC:31568, + HGNC_symbol:MIR196A2 ; biolink:category biolink:Gene . OMIM:609688 a owl:Class ; @@ -269264,14 +279566,15 @@ OMIM:609688 a owl:Class ; IAO:0000142 PMID:12554859, PMID:12624257, PMID:15105502 ; - oboInOwl:hasDbXref UMLS:C1537832 ; oboInOwl:hasExactSynonym "MIR196B", "micro RNA 196b", "mirn196b", "mirna196b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442920 ; - skos:exactMatch HGNC_symbol:MIR196B ; + skos:exactMatch UMLS:C1537832, + HGNC:31790, + HGNC_symbol:MIR196B ; biolink:category biolink:Gene . OMIM:609689 a owl:Class ; @@ -269289,14 +279592,15 @@ OMIM:609689 a owl:Class ; PMID:9647649 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:618358 ; - oboInOwl:hasDbXref UMLS:C1824724 ; oboInOwl:hasExactSynonym "CEP250", "centrosomal nek2-associated protein 1", "centrosomal protein 2", "centrosomal protein, 250-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11190 ; - skos:exactMatch HGNC_symbol:CEP250 ; + skos:exactMatch UMLS:C1824724, + HGNC:1859, + HGNC_symbol:CEP250 ; biolink:category biolink:Gene . OMIM:609690 a owl:Class ; @@ -269310,8 +279614,6 @@ OMIM:609690 a owl:Class ; PMID:30014610 ; RO:0002525 CHR:9606chr2q36.1 ; RO:0003303 OMIM:613658 ; - oboInOwl:hasDbXref UMLS:C1425085, - UMLS:C5436276 ; oboInOwl:hasExactSynonym "FARSB", "phenylalanine-trna synthetase, beta subunit", "phenylalanine-trna synthetase, cytoplasmic, beta subunit", @@ -269319,7 +279621,10 @@ OMIM:609690 a owl:Class ; "phersb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10056 ; - skos:exactMatch HGNC_symbol:FARSB ; + skos:exactMatch UMLS:C1425085, + UMLS:C5436276, + HGNC:17800, + HGNC_symbol:FARSB ; biolink:category biolink:Gene . OMIM:609691 a owl:Class ; @@ -269329,14 +279634,15 @@ OMIM:609691 a owl:Class ; PMID:15966898 ; RO:0002525 CHR:9606chr18q12.2 ; RO:0003303 OMIM:619402 ; - oboInOwl:hasDbXref UMLS:C1428557 ; oboInOwl:hasExactSynonym "FHOD3", "fh1/fh2 domain-containing protein 2", "formin homology-2 domain-containing protein 3", "kiaa1695" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80206 ; - skos:exactMatch HGNC_symbol:FHOD3 ; + skos:exactMatch UMLS:C1428557, + HGNC:26178, + HGNC_symbol:FHOD3 ; biolink:category biolink:Gene . OMIM:609692 a owl:Class ; @@ -269344,7 +279650,6 @@ OMIM:609692 a owl:Class ; IAO:0000142 PMID:11829459, PMID:12213210, PMID:21785420 ; - oboInOwl:hasDbXref UMLS:C1823858 ; oboInOwl:hasExactSynonym "WIPF2", "was/wasl-interacting protein family, member 2", "wasp-interacting protein-related protein", @@ -269352,33 +279657,37 @@ OMIM:609692 a owl:Class ; "wip-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147179 ; - skos:exactMatch HGNC_symbol:WIPF2 ; + skos:exactMatch UMLS:C1823858, + HGNC:30923, + HGNC_symbol:WIPF2 ; biolink:category biolink:Gene . OMIM:609693 a owl:Class ; rdfs:label "VWA7" ; IAO:0000142 PMID:10803853, PMID:8812450 ; - oboInOwl:hasDbXref UMLS:C1422287 ; oboInOwl:hasExactSynonym "VWA7", "chromosome 6 open reading frame 27", "g7c", "von willebrand factor a domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80737 ; - skos:exactMatch HGNC_symbol:VWA7 ; + skos:exactMatch UMLS:C1422287, + HGNC:13939, + HGNC_symbol:VWA7 ; biolink:category biolink:Gene . OMIM:609694 a owl:Class ; rdfs:label "GMIP" ; IAO:0000142 PMID:12093360, PMID:16086184 ; - oboInOwl:hasDbXref UMLS:C1539584 ; oboInOwl:hasExactSynonym "GMIP", "gem-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51291 ; - skos:exactMatch HGNC_symbol:GMIP ; + skos:exactMatch UMLS:C1539584, + HGNC:24852, + HGNC_symbol:GMIP ; biolink:category biolink:Gene . OMIM:609695 a owl:Class ; @@ -269399,15 +279708,16 @@ OMIM:609695 a owl:Class ; PMID:9343288 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:276710 ; - oboInOwl:hasDbXref UMLS:C0268623, - UMLS:C1415696, - UMLS:C2931042 ; oboInOwl:hasExactSynonym "4-hydroxyphenylpyruvate dioxygenase", "4-hydroxyphenylpyruvic acid oxidase", "HPD" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3242 ; - skos:exactMatch HGNC_symbol:HPD ; + skos:exactMatch UMLS:C0268623, + UMLS:C1415696, + UMLS:C2931042, + HGNC:5147, + HGNC_symbol:HPD ; biolink:category biolink:Gene . OMIM:609696 a owl:Class ; @@ -269416,7 +279726,6 @@ OMIM:609696 a owl:Class ; PMID:12724404, PMID:15247124, PMID:17043311 ; - oboInOwl:hasDbXref UMLS:C1423571 ; oboInOwl:hasExactSynonym "ARID4B", "arid-containing protein 4b", "at-rich interaction domain-containing protein 4b", @@ -269426,19 +279735,22 @@ OMIM:609696 a owl:Class ; "sin3a-associated protein, 180-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51742 ; - skos:exactMatch HGNC_symbol:ARID4B ; + skos:exactMatch UMLS:C1423571, + HGNC:15550, + HGNC_symbol:ARID4B ; biolink:category biolink:Gene . OMIM:609697 a owl:Class ; rdfs:label "SAP130" ; IAO:0000142 PMID:12724404, PMID:27049944 ; - oboInOwl:hasDbXref UMLS:C1826976 ; oboInOwl:hasExactSynonym "SAP130", "sin3a-associated protein, 130-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79595 ; - skos:exactMatch HGNC_symbol:SAP130 ; + skos:exactMatch UMLS:C1826976, + HGNC:29813, + HGNC_symbol:SAP130 ; biolink:category biolink:Gene . OMIM:609699 a owl:Class ; @@ -269449,7 +279761,6 @@ OMIM:609699 a owl:Class ; PMID:22021672, PMID:22969151, PMID:9495531 ; - oboInOwl:hasDbXref UMLS:C1442515 ; oboInOwl:hasExactSynonym "MGLL", "huk5", "mgl", @@ -269457,7 +279768,9 @@ OMIM:609699 a owl:Class ; "monoglyceride lipase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11343 ; - skos:exactMatch HGNC_symbol:MGLL ; + skos:exactMatch UMLS:C1442515, + HGNC:17038, + HGNC_symbol:MGLL ; biolink:category biolink:Gene . OMIM:609700 a owl:Class ; @@ -269466,13 +279779,14 @@ OMIM:609700 a owl:Class ; PMID:15235600, PMID:16499958, PMID:9323142 ; - oboInOwl:hasDbXref UMLS:C1425033 ; oboInOwl:hasExactSynonym "RABGEF1", "rab guanine nucleotide exchange factor 1", "rabaptin 5-associated exchange factor for rab5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27342 ; - skos:exactMatch HGNC_symbol:RABGEF1 ; + skos:exactMatch UMLS:C1425033, + HGNC:17676, + HGNC_symbol:RABGEF1 ; biolink:category biolink:Gene . OMIM:609701 a owl:Class ; @@ -269499,14 +279813,15 @@ OMIM:609701 a owl:Class ; PMID:9950362 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:252920 ; - oboInOwl:hasDbXref UMLS:C1417593 ; oboInOwl:hasExactSynonym "NAGLU", "n-acetyl-alpha-d-glucosaminidase", "n-acetyl-alpha-glucosaminidase", "n-acetylglucosaminidase, alpha-" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4669 ; - skos:exactMatch HGNC_symbol:NAGLU ; + skos:exactMatch UMLS:C1417593, + HGNC:7632, + HGNC_symbol:NAGLU ; biolink:category biolink:Gene . OMIM:609702 a owl:Class ; @@ -269517,7 +279832,6 @@ OMIM:609702 a owl:Class ; PMID:30664889 ; RO:0002525 CHR:9606chr18p11.21 ; RO:0003303 OMIM:619183 ; - oboInOwl:hasDbXref UMLS:C1428428 ; oboInOwl:hasExactSynonym "PSMG2", "cd40 ligand-activated specific transcript 3", "hepatocellular carcinoma-associated protein 3", @@ -269526,7 +279840,9 @@ OMIM:609702 a owl:Class ; "tnfsf5-induced protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56984 ; - skos:exactMatch HGNC_symbol:PSMG2 ; + skos:exactMatch UMLS:C1428428, + HGNC:24929, + HGNC_symbol:PSMG2 ; biolink:category biolink:Gene . OMIM:609703 a owl:Class ; @@ -269544,14 +279860,15 @@ OMIM:609703 a owl:Class ; PMID:20660113, PMID:21205967, PMID:22096249 ; - oboInOwl:hasDbXref UMLS:C1537709 ; oboInOwl:hasExactSynonym "MIR15A", "micro RNA 15a", "mirn15a", "mirna15a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406948 ; - skos:exactMatch HGNC_symbol:MIR15A ; + skos:exactMatch UMLS:C1537709, + HGNC:31543, + HGNC_symbol:MIR15A ; biolink:category biolink:Gene . OMIM:609704 a owl:Class ; @@ -269577,14 +279894,15 @@ OMIM:609704 a owl:Class ; PMID:21199864, PMID:21205967, PMID:22096249 ; - oboInOwl:hasDbXref UMLS:C1537711 ; oboInOwl:hasExactSynonym "MIR16-1", "micro RNA 16-1", "mirn16-1", "mirna16-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406950 ; - skos:exactMatch HGNC_symbol:MIR16-1 ; + skos:exactMatch UMLS:C1537711, + HGNC:31545, + HGNC_symbol:MIR16-1 ; biolink:category biolink:Gene . OMIM:609705 a owl:Class ; @@ -269596,8 +279914,6 @@ OMIM:609705 a owl:Class ; PMID:17613256, PMID:17686970, PMID:17906079 ; - oboInOwl:hasDbXref UMLS:C1537723, - UMLS:C1864747 ; oboInOwl:hasExactSynonym "MIR24-1", "micro RNA 189", "micro RNA 24-1", @@ -269605,29 +279921,33 @@ OMIM:609705 a owl:Class ; "mirna24-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407012 ; - skos:exactMatch HGNC_symbol:MIR24-1 ; + skos:exactMatch UMLS:C1537723, + UMLS:C1864747, + HGNC:31607, + HGNC_symbol:MIR24-1 ; biolink:category biolink:Gene . OMIM:609706 a owl:Class ; rdfs:label "deafness, autosomal recessive 53" ; IAO:0000142 PMID:16033917, PMID:25633957 ; - oboInOwl:hasDbXref UMLS:C1864746 ; oboInOwl:hasExactSynonym "DFNB53", "deafness, autosomal recessive 53" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1864746 ; biolink:category biolink:Disease . OMIM:609707 a owl:Class ; rdfs:label "DUS2L" ; IAO:0000142 PMID:15994936 ; - oboInOwl:hasDbXref UMLS:C1864745 ; oboInOwl:hasExactSynonym "DUS2L", "dihydrouridine synthase 2, s. cerevisiae, homolog of", "dihydrouridine synthase 2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54920 ; - skos:exactMatch HGNC_symbol:DUS2 ; + skos:exactMatch UMLS:C1864745, + HGNC:26014, + HGNC_symbol:DUS2 ; biolink:category biolink:Gene . OMIM:609708 a owl:Class ; @@ -269729,50 +280049,54 @@ OMIM:609708 a owl:Class ; PMID:9714430 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:238600 ; - oboInOwl:hasDbXref UMLS:C1416902 ; oboInOwl:hasExactSynonym "LPL", "lipoprotein lipase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4023 ; - skos:exactMatch HGNC_symbol:LPL ; + skos:exactMatch UMLS:C1416902, + HGNC:6677, + HGNC_symbol:LPL ; biolink:category biolink:Gene . OMIM:609709 a owl:Class ; rdfs:label "GYLTL1B" ; IAO:0000142 PMID:15661757, PMID:15752776 ; - oboInOwl:hasDbXref UMLS:C1825437 ; oboInOwl:hasExactSynonym "GYLTL1B", "glycosyltransferase-like 1b", "large2", "like-glycosyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120071 ; - skos:exactMatch HGNC_symbol:LARGE2 ; + skos:exactMatch UMLS:C1825437, + HGNC:16522, + HGNC_symbol:LARGE2 ; biolink:category biolink:Gene . OMIM:609710 a owl:Class ; rdfs:label "DCANP1" ; IAO:0000142 PMID:11798177 ; - oboInOwl:hasDbXref UMLS:C1824181 ; oboInOwl:hasExactSynonym "DCANP1", "chromosome 5 open reading frame 20", "dcnp1", "dendritic cell-associated nuclear protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140947 ; - skos:exactMatch HGNC_symbol:DCANP1 ; + skos:exactMatch UMLS:C1824181, + HGNC:24459, + HGNC_symbol:DCANP1 ; biolink:category biolink:Gene . OMIM:609711 a owl:Class ; rdfs:label "UQCR" ; IAO:0000142 PMID:9161705 ; - oboInOwl:hasDbXref UMLS:C1540163 ; oboInOwl:hasExactSynonym "UQCR", "ubiquinol-cytochrome c reductase, 6.4-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10975 ; - skos:exactMatch HGNC_symbol:UQCR11 ; + skos:exactMatch UMLS:C1540163, + HGNC:30862, + HGNC_symbol:UQCR11 ; biolink:category biolink:Gene . OMIM:609712 a owl:Class ; @@ -269825,7 +280149,6 @@ OMIM:609712 a owl:Class ; PMID:9886305 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:266200 ; - oboInOwl:hasDbXref UMLS:C1418609 ; oboInOwl:hasExactSynonym "PKLR", "pkrl", "pyruvate kinase 1", @@ -269834,18 +280157,21 @@ OMIM:609712 a owl:Class ; "pyruvate kinase, red cell iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5313 ; - skos:exactMatch HGNC_symbol:PKLR ; + skos:exactMatch UMLS:C1418609, + HGNC:9020, + HGNC_symbol:PKLR ; biolink:category biolink:Gene . OMIM:609713 a owl:Class ; rdfs:label "HUS1B" ; IAO:0000142 PMID:11944979 ; - oboInOwl:hasDbXref UMLS:C1424317 ; oboInOwl:hasExactSynonym "HUS1B", "hydroxyurea-sensitive 1, s. pombe, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135458 ; - skos:exactMatch HGNC_symbol:HUS1B ; + skos:exactMatch UMLS:C1424317, + HGNC:16485, + HGNC_symbol:HUS1B ; biolink:category biolink:Gene . OMIM:609714 a owl:Class ; @@ -269853,78 +280179,84 @@ OMIM:609714 a owl:Class ; IAO:0000142 PMID:12393607, PMID:12645956, PMID:15128762 ; - oboInOwl:hasDbXref UMLS:C1426933 ; oboInOwl:hasExactSynonym "TREML1", "trem-like protein 1", "trem-like transcript 1", "triggering receptor expressed on myeloid cells-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340205 ; - skos:exactMatch HGNC_symbol:TREML1 ; + skos:exactMatch UMLS:C1426933, + HGNC:20434, + HGNC_symbol:TREML1 ; biolink:category biolink:Gene . OMIM:609715 a owl:Class ; rdfs:label "TREML2" ; IAO:0000142 PMID:12645956 ; - oboInOwl:hasDbXref UMLS:C1540048 ; oboInOwl:hasExactSynonym "TREML2", "trem-like protein 2", "trem-like transcript 2", "triggering receptor expressed on myeloid cells-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79865 ; - skos:exactMatch HGNC_symbol:TREML2 ; + skos:exactMatch UMLS:C1540048, + HGNC:21092, + HGNC_symbol:TREML2 ; biolink:category biolink:Gene . OMIM:609716 a owl:Class ; rdfs:label "TREML3" ; IAO:0000142 PMID:12645956 ; - oboInOwl:hasDbXref UMLS:C1540050 ; oboInOwl:hasExactSynonym "TREML3", "trem-like protein 3", "trem-like transcript 3", "triggering receptor expressed on myeloid cells-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340206 ; - skos:exactMatch HGNC_symbol:TREML3P ; + skos:exactMatch UMLS:C1540050, + HGNC:30806, + HGNC_symbol:TREML3P ; biolink:category biolink:Gene . OMIM:609717 a owl:Class ; rdfs:label "PCAT4" ; IAO:0000142 PMID:11536302 ; - oboInOwl:hasDbXref UMLS:C1857862 ; oboInOwl:hasExactSynonym "PCAT4", "gene differentially expressed 1n prostate", "prostate cancer-associated transcript 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118425 ; - skos:exactMatch HGNC_symbol:PCAT4 ; + skos:exactMatch UMLS:C1857862, + HGNC:24853, + HGNC_symbol:PCAT4 ; biolink:category biolink:Gene . OMIM:609718 a owl:Class ; rdfs:label "LHFPL2" ; IAO:0000142 PMID:10329012, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1416846 ; oboInOwl:hasExactSynonym "LHFPL2", "kiaa0206", "lhfp-like protein 2", "lhfpl tetraspan subfamily, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10184 ; - skos:exactMatch HGNC_symbol:LHFPL2 ; + skos:exactMatch UMLS:C1416846, + HGNC:6588, + HGNC_symbol:LHFPL2 ; biolink:category biolink:Gene . OMIM:609719 a owl:Class ; rdfs:label "LHFPL3" ; IAO:0000142 PMID:10329012 ; - oboInOwl:hasDbXref UMLS:C1416847 ; oboInOwl:hasExactSynonym "LHFPL3", "lhfp-like protein 3", "lhfpl tetraspan subfamily, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375612 ; - skos:exactMatch HGNC_symbol:LHFPL3 ; + skos:exactMatch UMLS:C1416847, + HGNC:6589, + HGNC_symbol:LHFPL3 ; biolink:category biolink:Gene . OMIM:609720 a owl:Class ; @@ -269936,13 +280268,14 @@ OMIM:609720 a owl:Class ; PMID:25557780 ; RO:0002525 CHR:9606chr9q33.3 ; RO:0003303 OMIM:219730 ; - oboInOwl:hasDbXref UMLS:C1425708 ; oboInOwl:hasExactSynonym "CRB2", "crumbs cell polarity complex component 2", "crumbs, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286204 ; - skos:exactMatch HGNC_symbol:CRB2 ; + skos:exactMatch UMLS:C1425708, + HGNC:18688, + HGNC_symbol:CRB2 ; biolink:category biolink:Gene . OMIM:609721 a owl:Class ; @@ -269957,12 +280290,13 @@ OMIM:609721 a owl:Class ; PMID:27616478 ; RO:0002525 CHR:9606chr7p12.3 ; RO:0003303 OMIM:617205 ; - oboInOwl:hasDbXref UMLS:C1425267 ; oboInOwl:hasExactSynonym "PKD1L1", "polycystin 1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:168507 ; - skos:exactMatch HGNC_symbol:PKD1L1 ; + skos:exactMatch UMLS:C1425267, + HGNC:18053, + HGNC_symbol:PKD1L1 ; biolink:category biolink:Gene . OMIM:609722 a owl:Class ; @@ -269970,60 +280304,65 @@ OMIM:609722 a owl:Class ; IAO:0000142 PMID:15505042, PMID:15659642, PMID:15963787 ; - oboInOwl:hasDbXref UMLS:C1422329 ; oboInOwl:hasExactSynonym "PDLIM2", "mystique", "pdz and 51m domain protein 2", "stat-interacting 51m protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64236 ; - skos:exactMatch HGNC_symbol:PDLIM2 ; + skos:exactMatch UMLS:C1422329, + HGNC:13992, + HGNC_symbol:PDLIM2 ; biolink:category biolink:Gene . OMIM:609723 a owl:Class ; rdfs:label "YPEL2" ; IAO:0000142 PMID:15556292, PMID:33022222 ; - oboInOwl:hasDbXref UMLS:C1425450 ; oboInOwl:hasExactSynonym "YPEL2", "yippee-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388403 ; - skos:exactMatch HGNC_symbol:YPEL2 ; + skos:exactMatch UMLS:C1425450, + HGNC:18326, + HGNC_symbol:YPEL2 ; biolink:category biolink:Gene . OMIM:609724 a owl:Class ; rdfs:label "YPEL3" ; IAO:0000142 PMID:15556292, PMID:20388804 ; - oboInOwl:hasDbXref UMLS:C1538128 ; oboInOwl:hasExactSynonym "YPEL3", "yippee-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83719 ; - skos:exactMatch HGNC_symbol:YPEL3 ; + skos:exactMatch UMLS:C1538128, + HGNC:18327, + HGNC_symbol:YPEL3 ; biolink:category biolink:Gene . OMIM:609725 a owl:Class ; rdfs:label "YPEL4" ; IAO:0000142 PMID:15556292 ; - oboInOwl:hasDbXref UMLS:C1538129 ; oboInOwl:hasExactSynonym "YPEL4", "yippee-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219539 ; - skos:exactMatch HGNC_symbol:YPEL4 ; + skos:exactMatch UMLS:C1538129, + HGNC:18328, + HGNC_symbol:YPEL4 ; biolink:category biolink:Gene . OMIM:609726 a owl:Class ; rdfs:label "YPEL5" ; IAO:0000142 PMID:15556292 ; - oboInOwl:hasDbXref UMLS:C1538130 ; oboInOwl:hasExactSynonym "YPEL5", "yippee-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51646 ; - skos:exactMatch HGNC_symbol:YPEL5 ; + skos:exactMatch UMLS:C1538130, + HGNC:18329, + HGNC_symbol:YPEL5 ; biolink:category biolink:Gene . OMIM:609728 a owl:Class ; @@ -270035,14 +280374,15 @@ OMIM:609728 a owl:Class ; PMID:25754315 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:611390 ; - oboInOwl:hasDbXref UMLS:C1537666 ; oboInOwl:hasExactSynonym "MARS2", "methionine trna synthetase, mitochondrial", "methionyl-trna synthetase 2", "mitochondrial metrs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92935 ; - skos:exactMatch HGNC_symbol:MARS2 ; + skos:exactMatch UMLS:C1537666, + HGNC:25133, + HGNC_symbol:MARS2 ; biolink:category biolink:Gene . OMIM:609729 a owl:Class ; @@ -270050,36 +280390,39 @@ OMIM:609729 a owl:Class ; IAO:0000142 PMID:10470851, PMID:15010864, PMID:20668165 ; - oboInOwl:hasDbXref UMLS:C1538622 ; oboInOwl:hasExactSynonym "PDZRN3", "kiaa1095", "pdz domain-containing ring finger protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23024 ; - skos:exactMatch HGNC_symbol:PDZRN3 ; + skos:exactMatch UMLS:C1538622, + HGNC:17704, + HGNC_symbol:PDZRN3 ; biolink:category biolink:Gene . OMIM:609730 a owl:Class ; rdfs:label "PDZRN4" ; IAO:0000142 PMID:15010864 ; - oboInOwl:hasDbXref UMLS:C1538623 ; oboInOwl:hasExactSynonym "PDZRN4", "pdz domain-containing ring finger protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29951 ; - skos:exactMatch HGNC_symbol:PDZRN4 ; + skos:exactMatch UMLS:C1538623, + HGNC:30552, + HGNC_symbol:PDZRN4 ; biolink:category biolink:Gene . OMIM:609731 a owl:Class ; rdfs:label "CST11" ; IAO:0000142 PMID:12072414 ; - oboInOwl:hasDbXref UMLS:C1423863 ; oboInOwl:hasExactSynonym "CST11", "cst8l", "cystatin 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140880 ; - skos:exactMatch HGNC_symbol:CST11 ; + skos:exactMatch UMLS:C1423863, + HGNC:15959, + HGNC_symbol:CST11 ; biolink:category biolink:Gene . OMIM:609732 a owl:Class ; @@ -270088,26 +280431,28 @@ OMIM:609732 a owl:Class ; PMID:11782429, PMID:15367597, PMID:9535908 ; - oboInOwl:hasDbXref UMLS:C1825867 ; oboInOwl:hasExactSynonym "LNX1", "ligand of numb protein 10", "ligand of numb protein x1", "pdz domain-containing ring finger protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84708 ; - skos:exactMatch HGNC_symbol:LNX1 ; + skos:exactMatch UMLS:C1825867, + HGNC:6657, + HGNC_symbol:LNX1 ; biolink:category biolink:Gene . OMIM:609733 a owl:Class ; rdfs:label "LNX2" ; IAO:0000142 PMID:11922143 ; - oboInOwl:hasDbXref UMLS:C1426929 ; oboInOwl:hasExactSynonym "LNX2", "ligand of numb protein x2", "pdz domain-containing ring finger protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222484 ; - skos:exactMatch HGNC_symbol:LNX2 ; + skos:exactMatch UMLS:C1426929, + HGNC:20421, + HGNC_symbol:LNX2 ; biolink:category biolink:Gene . OMIM:609734 a owl:Class ; @@ -270117,22 +280462,23 @@ OMIM:609734 a owl:Class ; PMID:18765507, PMID:27468060, PMID:9620771 ; - oboInOwl:hasDbXref UMLS:C1857854 ; oboInOwl:hasExactSynonym "OBAIRH", "obesity, early-onset, with adrenal insufficiency and red hair", "proopiomelanocortin deficiency" ; + skos:exactMatch UMLS:C1857854 ; biolink:category biolink:Disease . OMIM:609735 a owl:Class ; rdfs:label "RFFL" ; IAO:0000142 PMID:15229288 ; - oboInOwl:hasDbXref UMLS:C1826808 ; oboInOwl:hasExactSynonym "RFFL", "rififylin", "ring finger and fyve-like domain containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117584 ; - skos:exactMatch HGNC_symbol:RFFL ; + skos:exactMatch UMLS:C1826808, + HGNC:24821, + HGNC_symbol:RFFL ; biolink:category biolink:Gene . OMIM:609736 a owl:Class ; @@ -270148,7 +280494,6 @@ OMIM:609736 a owl:Class ; PMID:26917597 ; RO:0002525 CHR:9606chr2p16.1 ; RO:0003303 OMIM:617507 ; - oboInOwl:hasDbXref UMLS:C1428495 ; oboInOwl:hasExactSynonym "CCDC88A", "akt phosphorylation enhancer", "coiled-coil domain-containing protein 88a", @@ -270158,7 +280503,9 @@ OMIM:609736 a owl:Class ; "kiaa1212" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55704 ; - skos:exactMatch HGNC_symbol:CCDC88A ; + skos:exactMatch UMLS:C1428495, + HGNC:25523, + HGNC_symbol:CCDC88A ; biolink:category biolink:Gene . OMIM:609737 a owl:Class ; @@ -270166,26 +280513,28 @@ OMIM:609737 a owl:Class ; IAO:0000142 PMID:12527193, PMID:14718572, PMID:23439680 ; - oboInOwl:hasDbXref UMLS:C1426800 ; oboInOwl:hasExactSynonym "CRB3", "crumbs cell polarity complex component 3", "crumbs, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92359 ; - skos:exactMatch HGNC_symbol:CRB3 ; + skos:exactMatch UMLS:C1426800, + HGNC:20237, + HGNC_symbol:CRB3 ; biolink:category biolink:Gene . OMIM:609738 a owl:Class ; rdfs:label "IGSF9" ; IAO:0000142 PMID:10718198, PMID:11991715 ; - oboInOwl:hasDbXref UMLS:C1425335 ; oboInOwl:hasExactSynonym "IGSF9", "immunoglobulin superfamily, member 9", "kiaa1355" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57549 ; - skos:exactMatch HGNC_symbol:IGSF9 ; + skos:exactMatch UMLS:C1425335, + HGNC:18132, + HGNC_symbol:IGSF9 ; biolink:category biolink:Gene . OMIM:609739 a owl:Class ; @@ -270197,23 +280546,25 @@ OMIM:609739 a owl:Class ; PMID:28461473 ; RO:0002525 CHR:9606chr3q13.33 ; RO:0003303 OMIM:609646 ; - oboInOwl:hasDbXref UMLS:C1537405 ; oboInOwl:hasExactSynonym "ILDR1", "immunoglobulin-like domain-containing receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286676 ; - skos:exactMatch HGNC_symbol:ILDR1 ; + skos:exactMatch UMLS:C1537405, + HGNC:28741, + HGNC_symbol:ILDR1 ; biolink:category biolink:Gene . OMIM:609740 a owl:Class ; rdfs:label "PHF19" ; IAO:0000142 PMID:15563832 ; - oboInOwl:hasDbXref UMLS:C1428388 ; oboInOwl:hasExactSynonym "PHF19", "phd finger protein 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26147 ; - skos:exactMatch HGNC_symbol:PHF19 ; + skos:exactMatch UMLS:C1428388, + HGNC:24566, + HGNC_symbol:PHF19 ; biolink:category biolink:Gene . OMIM:609742 a owl:Class ; @@ -270225,14 +280576,15 @@ OMIM:609742 a owl:Class ; PMID:17356132, PMID:22326581, PMID:29288206 ; - oboInOwl:hasDbXref UMLS:C1426007 ; oboInOwl:hasExactSynonym "IL4I1", "fig1", "il4-induced gene 1", "interleukin 4-induced gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259307 ; - skos:exactMatch HGNC_symbol:IL4I1 ; + skos:exactMatch UMLS:C1426007, + HGNC:19094, + HGNC_symbol:IL4I1 ; biolink:category biolink:Gene . OMIM:609743 a owl:Class ; @@ -270243,7 +280595,6 @@ OMIM:609743 a owl:Class ; PMID:16311015 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:619519 ; - oboInOwl:hasDbXref UMLS:C1425010 ; oboInOwl:hasExactSynonym "CADM3", "cell adhesion molecule 3", "immunoglobulin superfamily, member 4b", @@ -270252,7 +280603,9 @@ OMIM:609743 a owl:Class ; "tslc1-like gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57863 ; - skos:exactMatch HGNC_symbol:CADM3 ; + skos:exactMatch UMLS:C1425010, + HGNC:17601, + HGNC_symbol:CADM3 ; biolink:category biolink:Gene . OMIM:609744 a owl:Class ; @@ -270260,7 +280613,6 @@ OMIM:609744 a owl:Class ; IAO:0000142 PMID:11536053, PMID:14659875, PMID:21482674 ; - oboInOwl:hasDbXref UMLS:C1429003 ; oboInOwl:hasExactSynonym "CADM4", "cell adhesion molecule 4", "immunoglobulin superfamily, member 4c", @@ -270269,14 +280621,15 @@ OMIM:609744 a owl:Class ; "tslc1-like gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199731 ; - skos:exactMatch HGNC_symbol:CADM4 ; + skos:exactMatch UMLS:C1429003, + HGNC:30825, + HGNC_symbol:CADM4 ; biolink:category biolink:Gene . OMIM:609746 a owl:Class ; rdfs:label "ARHGAP10" ; IAO:0000142 PMID:11432776, PMID:15471851 ; - oboInOwl:hasDbXref UMLS:C1538921 ; oboInOwl:hasExactSynonym "ARHGAP10", "gtpase regulator associated with focal adhesion kinase 2", "gtpase-activating protein, rho, 10", @@ -270284,7 +280637,9 @@ OMIM:609746 a owl:Class ; "rho gtpase-activating protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79658 ; - skos:exactMatch HGNC_symbol:ARHGAP10 ; + skos:exactMatch UMLS:C1538921, + HGNC:26099, + HGNC_symbol:ARHGAP10 ; biolink:category biolink:Gene . OMIM:609747 a owl:Class ; @@ -270292,35 +280647,38 @@ OMIM:609747 a owl:Class ; IAO:0000142 PMID:11983702, PMID:15798203, PMID:17415416 ; - oboInOwl:hasDbXref UMLS:C1825825 ; oboInOwl:hasExactSynonym "ABRA", "actin-binding rho-activating protein", "striated muscle activator of rho signaling" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137735 ; - skos:exactMatch HGNC_symbol:ABRA ; + skos:exactMatch UMLS:C1825825, + HGNC:30655, + HGNC_symbol:ABRA ; biolink:category biolink:Gene . OMIM:609748 a owl:Class ; rdfs:label "UBL7" ; - oboInOwl:hasDbXref UMLS:C1540150 ; oboInOwl:hasExactSynonym "UBL7", "ubiquitin-like 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84993 ; - skos:exactMatch HGNC_symbol:UBL7 ; + skos:exactMatch UMLS:C1540150, + HGNC:28221, + HGNC_symbol:UBL7 ; biolink:category biolink:Gene . OMIM:609749 a owl:Class ; rdfs:label "UXS1" ; IAO:0000142 PMID:11877387 ; - oboInOwl:hasDbXref UMLS:C1425050 ; oboInOwl:hasExactSynonym "UXS1", "udp-glucuronate decarboxylase 1", "ugd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80146 ; - skos:exactMatch HGNC_symbol:UXS1 ; + skos:exactMatch UMLS:C1425050, + HGNC:17729, + HGNC_symbol:UXS1 ; biolink:category biolink:Gene . OMIM:609751 a owl:Class ; @@ -270343,9 +280701,6 @@ OMIM:609751 a owl:Class ; PMID:8798738 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:264470 ; - oboInOwl:hasDbXref UMLS:C1412128, - UMLS:C1849678, - UMLS:C5394554 ; oboInOwl:hasExactSynonym "ACOX1", "acyl-coa oxidase", "acyl-coa oxidase 1, palmitoyl", @@ -270354,19 +280709,24 @@ OMIM:609751 a owl:Class ; "palmitoyl-coa oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51 ; - skos:exactMatch HGNC_symbol:ACOX1 ; + skos:exactMatch UMLS:C1412128, + UMLS:C1849678, + UMLS:C5394554, + HGNC:119, + HGNC_symbol:ACOX1 ; biolink:category biolink:Gene . OMIM:609752 a owl:Class ; rdfs:label "NCOA7" ; IAO:0000142 PMID:11971969 ; - oboInOwl:hasDbXref UMLS:C1427302 ; oboInOwl:hasExactSynonym "NCOA7", "erap140", "nuclear receptor coactivator 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135112 ; - skos:exactMatch HGNC_symbol:NCOA7 ; + skos:exactMatch UMLS:C1427302, + HGNC:21081, + HGNC_symbol:NCOA7 ; biolink:category biolink:Gene . OMIM:609755 a owl:Class ; @@ -270375,11 +280735,11 @@ OMIM:609755 a owl:Class ; PMID:11098935, PMID:11796853, PMID:15199380 ; - oboInOwl:hasDbXref UMLS:C1857845 ; oboInOwl:hasExactSynonym "CELIAC3", "celiac disease, susceptibility to, 3", "gluten-sensitive enteropathy, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C1857845 ; biolink:category biolink:Disease . OMIM:609756 a owl:Class ; @@ -270388,12 +280748,13 @@ OMIM:609756 a owl:Class ; PMID:18545269, PMID:21047781, PMID:9782083 ; - oboInOwl:hasDbXref UMLS:C1423729 ; oboInOwl:hasExactSynonym "CHRFAM7A", "chrna7/fam7a fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89832 ; - skos:exactMatch HGNC_symbol:CHRFAM7A ; + skos:exactMatch UMLS:C1423729, + HGNC:15781, + HGNC_symbol:CHRFAM7A ; biolink:category biolink:Gene . OMIM:609757 a owl:Class ; @@ -270412,14 +280773,14 @@ OMIM:609757 a owl:Class ; PMID:26166478, PMID:26333794 ; RO:0002525 CHR:9606chr7q11.23 ; - oboInOwl:hasDbXref UMLS:C1857844, - ORPHA:96121 ; oboInOwl:hasExactSynonym "chromosome 7q11.23 duplication syndrome", "chromosome 7q11.23 triplication syndrome", "somerville-van der aa syndrome", "wbs duplication syndrome", "wbs triplication syndrome", "williams-beuren region duplication syndrome" ; + skos:exactMatch UMLS:C1857844, + ORPHA:96121 ; biolink:category biolink:Disease . OMIM:609758 a owl:Class ; @@ -270428,8 +280789,6 @@ OMIM:609758 a owl:Class ; PMID:15908570, PMID:16145689, PMID:17606467 ; - oboInOwl:hasDbXref UMLS:C1424284, - UMLS:C1857982 ; oboInOwl:hasExactSynonym "NKAIN2", "na+/k+ transporting atpase-interacting 2", "na+/k+ transporting atpase-interacting protein 2", @@ -270438,18 +280797,22 @@ OMIM:609758 a owl:Class ; "tcba1/susp1 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154215 ; - skos:exactMatch HGNC_symbol:NKAIN2 ; + skos:exactMatch UMLS:C1424284, + UMLS:C1857982, + HGNC:16443, + HGNC_symbol:NKAIN2 ; biolink:category biolink:Gene . OMIM:609759 a owl:Class ; rdfs:label "PRDM7" ; IAO:0000142 PMID:10668202 ; - oboInOwl:hasDbXref UMLS:C1418878 ; oboInOwl:hasExactSynonym "PRDM7", "pr domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11105 ; - skos:exactMatch HGNC_symbol:PRDM7 ; + skos:exactMatch UMLS:C1418878, + HGNC:9351, + HGNC_symbol:PRDM7 ; biolink:category biolink:Gene . OMIM:609760 a owl:Class ; @@ -270470,13 +280833,14 @@ OMIM:609760 a owl:Class ; PMID:26940866, PMID:30898902, PMID:4452481 ; - oboInOwl:hasDbXref UMLS:C1422331 ; oboInOwl:hasExactSynonym "PRDM9", "meisetz, mouse, homolog of", "pr domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56979 ; - skos:exactMatch HGNC_symbol:PRDM9 ; + skos:exactMatch UMLS:C1422331, + HGNC:13994, + HGNC_symbol:PRDM9 ; biolink:category biolink:Gene . OMIM:609761 a owl:Class ; @@ -270488,7 +280852,6 @@ OMIM:609761 a owl:Class ; PMID:20510926 ; RO:0002525 CHR:9606chr22q13.1 ; RO:0003303 OMIM:609823 ; - oboInOwl:hasDbXref UMLS:C1823497 ; oboInOwl:hasExactSynonym "TRIOBP", "kiaa1662", "trio- and f-actin-binding protein", @@ -270496,7 +280859,9 @@ OMIM:609761 a owl:Class ; "trio-associated repeat on actin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11078 ; - skos:exactMatch HGNC_symbol:TRIOBP ; + skos:exactMatch UMLS:C1823497, + HGNC:17009, + HGNC_symbol:TRIOBP ; biolink:category biolink:Gene . OMIM:609762 a owl:Class ; @@ -270506,7 +280871,6 @@ OMIM:609762 a owl:Class ; PMID:22709368 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:614077 ; - oboInOwl:hasDbXref UMLS:C1538326 ; oboInOwl:hasExactSynonym "BLOC1S3", "biogenesis of lysosome-related organelles complex 1, subunit 3", "bloc1, subunit 3", @@ -270514,7 +280878,9 @@ OMIM:609762 a owl:Class ; "reduced pigmentation, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388552 ; - skos:exactMatch HGNC_symbol:BLOC1S3 ; + skos:exactMatch UMLS:C1538326, + HGNC:20914, + HGNC_symbol:BLOC1S3 ; biolink:category biolink:Gene . OMIM:609763 a owl:Class ; @@ -270525,7 +280891,6 @@ OMIM:609763 a owl:Class ; PMID:18772438, PMID:20154717, PMID:22337770 ; - oboInOwl:hasDbXref UMLS:C1857831 ; oboInOwl:hasExactSynonym "PI4K2A", "phosphatidylinositol 4-kinase, iia 2", "phosphatidylinositol 4-kinase, iia 2, alpha", @@ -270533,7 +280898,9 @@ OMIM:609763 a owl:Class ; "pi4kii-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55361 ; - skos:exactMatch HGNC_symbol:PI4K2A ; + skos:exactMatch UMLS:C1857831, + HGNC:30031, + HGNC_symbol:PI4K2A ; biolink:category biolink:Gene . OMIM:609764 a owl:Class ; @@ -270545,7 +280912,6 @@ OMIM:609764 a owl:Class ; PMID:17589501, PMID:21768309, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1427830 ; oboInOwl:hasExactSynonym "KDM4A", "jhdm3a", "jumonji domain-containing protein 2a", @@ -270554,7 +280920,9 @@ OMIM:609764 a owl:Class ; "lysine-specific demethylase 4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9682 ; - skos:exactMatch HGNC_symbol:KDM4A ; + skos:exactMatch UMLS:C1427830, + HGNC:22978, + HGNC_symbol:KDM4A ; biolink:category biolink:Gene . OMIM:609765 a owl:Class ; @@ -270566,7 +280934,6 @@ OMIM:609765 a owl:Class ; PMID:33232677 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:619320 ; - oboInOwl:hasDbXref UMLS:C1428797 ; oboInOwl:hasExactSynonym "KDM4B", "jumonji domain-containing protein 2b", "kiaa0876", @@ -270574,26 +280941,28 @@ OMIM:609765 a owl:Class ; "lysine-specific demethylase 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23030 ; - skos:exactMatch HGNC_symbol:KDM4B ; + skos:exactMatch UMLS:C1428797, + HGNC:29136, + HGNC_symbol:KDM4B ; biolink:category biolink:Gene . OMIM:609766 a owl:Class ; rdfs:label "KDM4D" ; IAO:0000142 PMID:15138608 ; - oboInOwl:hasDbXref UMLS:C1428494 ; oboInOwl:hasExactSynonym "KDM4D", "jumonji domain-containing protein 2d", "lysine demethylase 4d", "lysine-specific demethylase 4d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55693 ; - skos:exactMatch HGNC_symbol:KDM4D ; + skos:exactMatch UMLS:C1428494, + HGNC:25498, + HGNC_symbol:KDM4D ; biolink:category biolink:Gene . OMIM:609767 a owl:Class ; rdfs:label "SLC25A28" ; IAO:0000142 PMID:11297739 ; - oboInOwl:hasDbXref UMLS:C1428089 ; oboInOwl:hasExactSynonym "SLC25A28", "mitoferrin 2", "mrs3/4", @@ -270602,20 +280971,23 @@ OMIM:609767 a owl:Class ; "solute carrier family 25 (mitochondrial carrier), member 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81894 ; - skos:exactMatch HGNC_symbol:SLC25A28 ; + skos:exactMatch UMLS:C1428089, + HGNC:23472, + HGNC_symbol:SLC25A28 ; biolink:category biolink:Gene . OMIM:609768 a owl:Class ; rdfs:label "BLOC1S2" ; IAO:0000142 PMID:15102850, PMID:25898167 ; - oboInOwl:hasDbXref UMLS:C1538325 ; oboInOwl:hasExactSynonym "BLOC1S2", "biogenesis of lysosome-related organelles complex 1, subunit 2", "bloc1, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282991 ; - skos:exactMatch HGNC_symbol:BLOC1S2 ; + skos:exactMatch UMLS:C1538325, + HGNC:20984, + HGNC_symbol:BLOC1S2 ; biolink:category biolink:Gene . OMIM:609769 a owl:Class ; @@ -270625,13 +280997,14 @@ OMIM:609769 a owl:Class ; PMID:28369735 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:617574 ; - oboInOwl:hasDbXref UMLS:C1853366 ; oboInOwl:hasExactSynonym "SDR9C7", "orphan short-chain dehydrogenase/reductase", "short chain dehydrogenase/reductase family 9c, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121214 ; - skos:exactMatch HGNC_symbol:SDR9C7 ; + skos:exactMatch UMLS:C1853366, + HGNC:29958, + HGNC_symbol:SDR9C7 ; biolink:category biolink:Gene . OMIM:609770 a owl:Class ; @@ -270639,13 +281012,14 @@ OMIM:609770 a owl:Class ; IAO:0000142 PMID:12869515, PMID:20813954, PMID:20813955 ; - oboInOwl:hasDbXref UMLS:C1426000 ; oboInOwl:hasExactSynonym "JAML", "adhesion molecule, interacts with cxadr antigen 1", "junctional adhesion molecule-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120425 ; - skos:exactMatch HGNC_symbol:JAML ; + skos:exactMatch UMLS:C1426000, + HGNC:19084, + HGNC_symbol:JAML ; biolink:category biolink:Gene . OMIM:609771 a owl:Class ; @@ -270653,12 +281027,13 @@ OMIM:609771 a owl:Class ; IAO:0000142 PMID:10725330, PMID:19029251, PMID:9521878 ; - oboInOwl:hasDbXref UMLS:C1421302 ; oboInOwl:hasExactSynonym "UBN1", "ubinuclein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29855 ; - skos:exactMatch HGNC_symbol:UBN1 ; + skos:exactMatch UMLS:C1421302, + HGNC:12506, + HGNC_symbol:UBN1 ; biolink:category biolink:Gene . OMIM:609772 a owl:Class ; @@ -270667,14 +281042,15 @@ OMIM:609772 a owl:Class ; PMID:11707066, PMID:22262902, PMID:23015759 ; - oboInOwl:hasDbXref UMLS:C1423652 ; oboInOwl:hasExactSynonym "CTTNBP2", "cortactin-binding protein 2", "cortbp2", "kiaa1758" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83992 ; - skos:exactMatch HGNC_symbol:CTTNBP2 ; + skos:exactMatch UMLS:C1423652, + HGNC:15679, + HGNC_symbol:CTTNBP2 ; biolink:category biolink:Gene . OMIM:609773 a owl:Class ; @@ -270682,38 +281058,41 @@ OMIM:609773 a owl:Class ; IAO:0000142 PMID:12586827, PMID:14585496, PMID:14612439 ; - oboInOwl:hasDbXref UMLS:C1825040 ; oboInOwl:hasExactSynonym "EID2", "crebbp/ep300 inhibitory protein 2", "e1a-like inhibitor of differentiation 2", "ep300-interacting inhibitor of differentiation 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163126 ; - skos:exactMatch HGNC_symbol:EID2 ; + skos:exactMatch UMLS:C1825040, + HGNC:28292, + HGNC_symbol:EID2 ; biolink:category biolink:Gene . OMIM:609774 a owl:Class ; rdfs:label "API5" ; IAO:0000142 PMID:9307294 ; - oboInOwl:hasDbXref UMLS:C1412463 ; oboInOwl:hasExactSynonym "API5", "antiapoptosis clone 11", "apoptosis inhibitor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8539 ; - skos:exactMatch HGNC_symbol:API5 ; + skos:exactMatch UMLS:C1412463, + HGNC:594, + HGNC_symbol:API5 ; biolink:category biolink:Gene . OMIM:609775 a owl:Class ; rdfs:label "YIPF3" ; IAO:0000142 PMID:12490290 ; - oboInOwl:hasDbXref UMLS:C1823888 ; oboInOwl:hasExactSynonym "YIPF3", "killer lineage protein 1", "yip1 domain family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25844 ; - skos:exactMatch HGNC_symbol:YIPF3 ; + skos:exactMatch UMLS:C1823888, + HGNC:21023, + HGNC_symbol:YIPF3 ; biolink:category biolink:Gene . OMIM:609776 a owl:Class ; @@ -270721,12 +281100,13 @@ OMIM:609776 a owl:Class ; IAO:0000142 PMID:10899595, PMID:14583459, PMID:9065197 ; - oboInOwl:hasDbXref UMLS:C1538714 ; oboInOwl:hasExactSynonym "PRAP1", "proline-rich acidic protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118471 ; - skos:exactMatch HGNC_symbol:PRAP1 ; + skos:exactMatch UMLS:C1538714, + HGNC:23304, + HGNC_symbol:PRAP1 ; biolink:category biolink:Gene . OMIM:609777 a owl:Class ; @@ -270734,21 +281114,21 @@ OMIM:609777 a owl:Class ; IAO:0000142 PMID:10021346, PMID:12203715, PMID:15454575 ; - oboInOwl:hasDbXref UMLS:C1422556 ; oboInOwl:hasExactSynonym "XIRP1", "cardiomyopathy-associated protein 1", "xin", "xin actin-binding repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:165904 ; - skos:exactMatch HGNC_symbol:XIRP1 ; + skos:exactMatch UMLS:C1422556, + HGNC:14301, + HGNC_symbol:XIRP1 ; biolink:category biolink:Gene . OMIM:609778 a owl:Class ; rdfs:label "XIRP2" ; IAO:0000142 PMID:15454575, PMID:17046827 ; - oboInOwl:hasDbXref UMLS:C1422557 ; oboInOwl:hasExactSynonym "XIRP2", "cardiomyopathy-associated protein 3", "cmya3 11n repeat protein 2", @@ -270756,32 +281136,36 @@ OMIM:609778 a owl:Class ; "xin actin-binding repeat-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129446 ; - skos:exactMatch HGNC_symbol:XIRP2 ; + skos:exactMatch UMLS:C1422557, + HGNC:14303, + HGNC_symbol:XIRP2 ; biolink:category biolink:Gene . OMIM:609779 a owl:Class ; rdfs:label "NEK11" ; IAO:0000142 PMID:12154088, PMID:15161910 ; - oboInOwl:hasDbXref UMLS:C1425631 ; oboInOwl:hasExactSynonym "NEK11", "never 1n mitosis gene a-related kinase 11", "nima-related kinase 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79858 ; - skos:exactMatch HGNC_symbol:NEK11 ; + skos:exactMatch UMLS:C1425631, + HGNC:18593, + HGNC_symbol:NEK11 ; biolink:category biolink:Gene . OMIM:609780 a owl:Class ; rdfs:label "CPVL" ; IAO:0000142 PMID:11401439 ; - oboInOwl:hasDbXref UMLS:C1422620 ; oboInOwl:hasExactSynonym "CPVL", "carboxypeptidase, vitellogenic-like", "hvlp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54504 ; - skos:exactMatch HGNC_symbol:CPVL ; + skos:exactMatch UMLS:C1422620, + HGNC:14399, + HGNC_symbol:CPVL ; biolink:category biolink:Gene . OMIM:609781 a owl:Class ; @@ -270792,12 +281176,13 @@ OMIM:609783 a owl:Class ; rdfs:label "ITIH5" ; IAO:0000142 PMID:14744536, PMID:2446322 ; - oboInOwl:hasDbXref UMLS:C1427561 ; oboInOwl:hasExactSynonym "ITIH5", "inter-alpha-trypsin inhibitor, heavy chain 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80760 ; - skos:exactMatch HGNC_symbol:ITIH5 ; + skos:exactMatch UMLS:C1427561, + HGNC:21449, + HGNC_symbol:ITIH5 ; biolink:category biolink:Gene . OMIM:609784 a owl:Class ; @@ -270805,36 +281190,37 @@ OMIM:609784 a owl:Class ; IAO:0000142 PMID:10644752, PMID:15282311, PMID:8114710 ; - oboInOwl:hasDbXref UMLS:C1421303, - UMLS:C1853362 ; oboInOwl:hasExactSynonym "UBP1", "lbp1a", "lbp1b", "upstream binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7342 ; - skos:exactMatch HGNC_symbol:UBP1 ; + skos:exactMatch UMLS:C1421303, + UMLS:C1853362, + HGNC:12507, + HGNC_symbol:UBP1 ; biolink:category biolink:Gene . OMIM:609785 a owl:Class ; rdfs:label "TFCP2L1" ; IAO:0000142 PMID:10644752, PMID:11073954 ; - oboInOwl:hasDbXref UMLS:C1425181 ; oboInOwl:hasExactSynonym "TFCP2L1", "cp2-related transcriptional repressor 1", "lbp9", "transcription factor cp2-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29842 ; - skos:exactMatch HGNC_symbol:TFCP2L1 ; + skos:exactMatch UMLS:C1425181, + HGNC:17925, + HGNC_symbol:TFCP2L1 ; biolink:category biolink:Gene . OMIM:609786 a owl:Class ; rdfs:label "GRHL1" ; IAO:0000142 PMID:10644752, PMID:29867222 ; - oboInOwl:hasDbXref UMLS:C1853361 ; oboInOwl:hasExactSynonym "GRHL1", "grainyhead, drosophila, homolog of, 1", "grainyhead-like 1", @@ -270842,7 +281228,9 @@ OMIM:609786 a owl:Class ; "mammalian grainyhead" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29841 ; - skos:exactMatch HGNC_symbol:GRHL1 ; + skos:exactMatch UMLS:C1853361, + HGNC:17923, + HGNC_symbol:GRHL1 ; biolink:category biolink:Gene . OMIM:609787 a owl:Class ; @@ -270855,38 +281243,41 @@ OMIM:609787 a owl:Class ; PMID:31203368 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:618418 ; - oboInOwl:hasDbXref UMLS:C1421260 ; oboInOwl:hasExactSynonym "UBAP1", "ubap", "ubiquitin-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51271 ; - skos:exactMatch HGNC_symbol:UBAP1 ; + skos:exactMatch UMLS:C1421260, + HGNC:12461, + HGNC_symbol:UBAP1 ; biolink:category biolink:Gene . OMIM:609788 a owl:Class ; rdfs:label "XRRA1" ; IAO:0000142 PMID:12908878 ; - oboInOwl:hasDbXref UMLS:C1425839 ; oboInOwl:hasExactSynonym "XRRA1", "x-ray radiation resistance-associated 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143570 ; - skos:exactMatch HGNC_symbol:XRRA1 ; + skos:exactMatch UMLS:C1425839, + HGNC:18868, + HGNC_symbol:XRRA1 ; biolink:category biolink:Gene . OMIM:609789 a owl:Class ; rdfs:label "AQP12A" ; IAO:0000142 PMID:15809071, PMID:16107722 ; - oboInOwl:hasDbXref UMLS:C1824099 ; oboInOwl:hasExactSynonym "AQP12A", "aqp12", "aqpx2", "aquaporin 12a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375318 ; - skos:exactMatch HGNC_symbol:AQP12A ; + skos:exactMatch UMLS:C1824099, + HGNC:19941, + HGNC_symbol:AQP12A ; biolink:category biolink:Gene . OMIM:609791 a owl:Class ; @@ -270897,52 +281288,56 @@ OMIM:609791 a owl:Class ; PMID:17726113 ; RO:0002525 CHR:9606chr15q24.3 ; RO:0003303 OMIM:618103 ; - oboInOwl:hasDbXref UMLS:C1427412 ; oboInOwl:hasExactSynonym "LINGO1", "leucine-rich repeat neuronal protein 1", "leucine-rich repeat protein, neuronal, 6a", "leucine-rich repeat- and ig domain-containing nogo receptor-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84894 ; - skos:exactMatch HGNC_symbol:LINGO1 ; + skos:exactMatch UMLS:C1427412, + HGNC:21205, + HGNC_symbol:LINGO1 ; biolink:category biolink:Gene . OMIM:609792 a owl:Class ; rdfs:label "LINGO3" ; IAO:0000142 PMID:14686891 ; - oboInOwl:hasDbXref UMLS:C1427413 ; oboInOwl:hasExactSynonym "LINGO3", "leucine-rich repeat neuronal protein 2", "leucine-rich repeat protein, neuronal, 6b", "leucine-rich repeat- and ig domain-containing nogo receptor-interacting protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645191 ; - skos:exactMatch HGNC_symbol:LINGO3 ; + skos:exactMatch UMLS:C1427413, + HGNC:21206, + HGNC_symbol:LINGO3 ; biolink:category biolink:Gene . OMIM:609793 a owl:Class ; rdfs:label "LINGO2" ; IAO:0000142 PMID:14686891 ; - oboInOwl:hasDbXref UMLS:C1427414 ; oboInOwl:hasExactSynonym "LINGO2", "leucine-rich repeat neuronal protein 3", "leucine-rich repeat protein, neuronal, 6c", "leucine-rich repeat- and ig domain-containing nogo receptor-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158038 ; - skos:exactMatch HGNC_symbol:LINGO2 ; + skos:exactMatch UMLS:C1427414, + HGNC:21207, + HGNC_symbol:LINGO2 ; biolink:category biolink:Gene . OMIM:609794 a owl:Class ; rdfs:label "LINGO4" ; IAO:0000142 PMID:14966521 ; - oboInOwl:hasDbXref UMLS:C1537616 ; oboInOwl:hasExactSynonym "LINGO4", "leucine-rich repeat protein, neuronal, 6d", "leucine-rich repeat- and ig domain-containing nogo receptor-interacting protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339398 ; - skos:exactMatch HGNC_symbol:LINGO4 ; + skos:exactMatch UMLS:C1537616, + HGNC:31814, + HGNC_symbol:LINGO4 ; biolink:category biolink:Gene . OMIM:609795 a owl:Class ; @@ -270951,7 +281346,6 @@ OMIM:609795 a owl:Class ; PMID:12960173, PMID:14657341, PMID:16648250 ; - oboInOwl:hasDbXref UMLS:C1853355 ; oboInOwl:hasExactSynonym "QRFP", "neuropeptide rf-amide peptide", "neuropeptide rf-amide peptide precursor", @@ -270963,7 +281357,9 @@ OMIM:609795 a owl:Class ; "rf-amide peptide, 26-amino acid" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347148 ; - skos:exactMatch HGNC_symbol:QRFP ; + skos:exactMatch UMLS:C1853355, + HGNC:29982, + HGNC_symbol:QRFP ; biolink:category biolink:Gene . OMIM:609797 a owl:Class ; @@ -270984,14 +281380,15 @@ OMIM:609797 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr9q22.31 ; RO:0003303 OMIM:618291 ; - oboInOwl:hasDbXref UMLS:C1424822 ; oboInOwl:hasExactSynonym "BICD2", "bicaudal d, drosophila, homolog of, 2", "bicd cargo adaptor 2", "kiaa0699" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23299 ; - skos:exactMatch HGNC_symbol:BICD2 ; + skos:exactMatch UMLS:C1424822, + HGNC:17208, + HGNC_symbol:BICD2 ; biolink:category biolink:Gene . OMIM:609798 a owl:Class ; @@ -271005,14 +281402,15 @@ OMIM:609798 a owl:Class ; PMID:27153399 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:617025 ; - oboInOwl:hasDbXref UMLS:C1425629 ; oboInOwl:hasExactSynonym "NEK9", "nercc1", "never 1n mitosis gene a-related kinase 9", "nima-related kinase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91754 ; - skos:exactMatch HGNC_symbol:NEK9 ; + skos:exactMatch UMLS:C1425629, + HGNC:18591, + HGNC_symbol:NEK9 ; biolink:category biolink:Gene . OMIM:609799 a owl:Class ; @@ -271032,7 +281430,6 @@ OMIM:609799 a owl:Class ; PMID:26967905 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:615415 ; - oboInOwl:hasDbXref UMLS:C1421969 ; oboInOwl:hasExactSynonym "NEK8", "jck, mouse, homolog of", "nephrocystin 9", @@ -271040,13 +281437,14 @@ OMIM:609799 a owl:Class ; "nima-related kinase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284086 ; - skos:exactMatch HGNC_symbol:NEK8 ; + skos:exactMatch UMLS:C1421969, + HGNC:13387, + HGNC_symbol:NEK8 ; biolink:category biolink:Gene . OMIM:609801 a owl:Class ; rdfs:label "CD300E" ; IAO:0000142 PMID:15557162 ; - oboInOwl:hasDbXref UMLS:C1824678 ; oboInOwl:hasExactSynonym "CD300E", "cd300 antigen-like family, member e", "cd300e antigen", @@ -271054,7 +281452,9 @@ OMIM:609801 a owl:Class ; "immune receptor expressed by myeloid cells 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342510 ; - skos:exactMatch HGNC_symbol:CD300E ; + skos:exactMatch UMLS:C1824678, + HGNC:28874, + HGNC_symbol:CD300E ; biolink:category biolink:Gene . OMIM:609802 a owl:Class ; @@ -271073,26 +281473,28 @@ OMIM:609802 a owl:Class ; PMID:29025994 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:113750 ; - oboInOwl:hasDbXref UMLS:C1427030 ; oboInOwl:hasExactSynonym "SLC24A5", "jsx", "sodium/calcium/potassium exchanger 5", "solute carrier family 24 (sodium/potassium/calcium exchanger), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283652 ; - skos:exactMatch HGNC_symbol:SLC24A5 ; + skos:exactMatch UMLS:C1427030, + HGNC:20611, + HGNC_symbol:SLC24A5 ; biolink:category biolink:Gene . OMIM:609803 a owl:Class ; rdfs:label "ANKAR" ; IAO:0000142 PMID:15110750 ; - oboInOwl:hasDbXref UMLS:C1823662 ; oboInOwl:hasExactSynonym "ANKAR", "ankyrin and armadillo repeats-containing protein", "flj25415" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150709 ; - skos:exactMatch HGNC_symbol:ANKAR ; + skos:exactMatch UMLS:C1823662, + HGNC:26350, + HGNC_symbol:ANKAR ; biolink:category biolink:Gene . OMIM:609804 a owl:Class ; @@ -271100,26 +281502,28 @@ OMIM:609804 a owl:Class ; IAO:0000142 PMID:15967112 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:619607 ; - oboInOwl:hasDbXref UMLS:C1423941 ; oboInOwl:hasExactSynonym "CFAP52", "cilia- and flagella-associated protein 52", "wd repeat-containing protein 16", "wd40 repeat-containing protein upregulated 1n hepatocellular carcinoma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146845 ; - skos:exactMatch HGNC_symbol:CFAP52 ; + skos:exactMatch UMLS:C1423941, + HGNC:16053, + HGNC_symbol:CFAP52 ; biolink:category biolink:Gene . OMIM:609805 a owl:Class ; rdfs:label "SPATA19" ; IAO:0000142 PMID:12688595 ; - oboInOwl:hasDbXref UMLS:C1823090 ; oboInOwl:hasExactSynonym "SPATA19", "spergen 1", "spermatogenesis-associated protein 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219938 ; - skos:exactMatch HGNC_symbol:SPATA19 ; + skos:exactMatch UMLS:C1823090, + HGNC:30614, + HGNC_symbol:SPATA19 ; biolink:category biolink:Gene . OMIM:609806 a owl:Class ; @@ -271178,9 +281582,6 @@ OMIM:609806 a owl:Class ; PMID:9860299 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:176000 ; - oboInOwl:hasDbXref UMLS:C0162565, - UMLS:C1415597, - UMLS:C1867969 ; oboInOwl:hasExactSynonym "HMBS", "hydroxymethylbilane synthase", "porphobilinogen deaminase", @@ -271189,7 +281590,11 @@ OMIM:609806 a owl:Class ; "uroporphyrinogen 1 synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3145 ; - skos:exactMatch HGNC_symbol:HMBS ; + skos:exactMatch UMLS:C0162565, + UMLS:C1415597, + UMLS:C1867969, + HGNC:4982, + HGNC_symbol:HMBS ; biolink:category biolink:Gene . OMIM:609807 a owl:Class ; @@ -271198,7 +281603,6 @@ OMIM:609807 a owl:Class ; PMID:15549731, PMID:22291008, PMID:27540007 ; - oboInOwl:hasDbXref UMLS:C1824680 ; oboInOwl:hasExactSynonym "CD300LF", "cd300 antigen-like family, member f", "cd300f", @@ -271207,28 +281611,31 @@ OMIM:609807 a owl:Class ; "immunoglobulin superfamily, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146722 ; - skos:exactMatch HGNC_symbol:CD300LF ; + skos:exactMatch UMLS:C1824680, + HGNC:29883, + HGNC_symbol:CD300LF ; biolink:category biolink:Gene . OMIM:609808 a owl:Class ; rdfs:label "hamartoma, precalcaneal congenital fibrolipomatous" ; IAO:0000142 PMID:11123771, PMID:16060876 ; - oboInOwl:hasDbXref UMLS:C1853298 ; oboInOwl:hasExactSynonym "hamartoma, precalcaneal congenital fibrolipomatous", - "pcfh" . + "pcfh" ; + skos:exactMatch UMLS:C1853298 . OMIM:609809 a owl:Class ; rdfs:label "LIME1" ; IAO:0000142 PMID:14610044, PMID:14610046 ; - oboInOwl:hasDbXref UMLS:C1537573 ; oboInOwl:hasExactSynonym "LIME1", "lck-interacting transmembrane adaptor 1", "lime" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54923 ; - skos:exactMatch HGNC_symbol:LIME1 ; + skos:exactMatch UMLS:C1537573, + HGNC:26016, + HGNC_symbol:LIME1 ; biolink:category biolink:Gene . OMIM:609810 a owl:Class ; @@ -271238,46 +281645,49 @@ OMIM:609810 a owl:Class ; PMID:11574691, PMID:15611116, PMID:16341224 ; - oboInOwl:hasDbXref UMLS:C1422341 ; oboInOwl:hasExactSynonym "PEG10", "embryonal carcinoma differentiation-regulated gene", "kiaa1051", "paternally expressed gene 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23089 ; - skos:exactMatch HGNC_symbol:PEG10 ; + skos:exactMatch UMLS:C1422341, + HGNC:14005, + HGNC_symbol:PEG10 ; biolink:category biolink:Gene . OMIM:609811 a owl:Class ; rdfs:label "COX7B2" ; IAO:0000142 PMID:12477932, PMID:15623157 ; - oboInOwl:hasDbXref UMLS:C1539132 ; oboInOwl:hasExactSynonym "COX7B2", "cytochrome c oxidase, subunit 7b2", "cytochrome c oxidase, subunit viib2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170712 ; - skos:exactMatch HGNC_symbol:COX7B2 ; + skos:exactMatch UMLS:C1539132, + HGNC:24381, + HGNC_symbol:COX7B2 ; biolink:category biolink:Gene . OMIM:609816 a owl:Class ; rdfs:label "NBEAL1" ; IAO:0000142 PMID:15193433 ; - oboInOwl:hasDbXref UMLS:C1538044 ; oboInOwl:hasExactSynonym "NBEAL1", "als2 chromosome region gene 17", "neurobeachin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65065 ; - skos:exactMatch HGNC_symbol:NBEAL1 ; + skos:exactMatch UMLS:C1538044, + HGNC:20681, + HGNC_symbol:NBEAL1 ; biolink:category biolink:Gene . OMIM:609817 a owl:Class ; rdfs:label "vasculitis, lymphocytic, cutaneous small vessel" ; IAO:0000142 PMID:16133183 ; - oboInOwl:hasDbXref UMLS:C1853293 ; oboInOwl:hasExactSynonym "vasculitis, lymphocytic, cutaneous small vessel" ; + skos:exactMatch UMLS:C1853293 ; biolink:category biolink:Disease . OMIM:609818 a owl:Class ; @@ -271286,26 +281696,28 @@ OMIM:609818 a owl:Class ; PMID:21962518, PMID:30975888, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1421387 ; oboInOwl:hasExactSynonym "USP10", "kiaa0190", "ubiquitin-specific protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9100 ; - skos:exactMatch HGNC_symbol:USP10 ; + skos:exactMatch UMLS:C1421387, + HGNC:12608, + HGNC_symbol:USP10 ; biolink:category biolink:Gene . OMIM:609819 a owl:Class ; rdfs:label "PRAC1" ; IAO:0000142 PMID:11340635 ; - oboInOwl:hasDbXref UMLS:C1853292 ; oboInOwl:hasExactSynonym "PRAC1", "prac1 small nuclear protein", "prostate, rectum, and colon gene 1", "small nuclear protein prac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84366 ; - skos:exactMatch HGNC_symbol:PRAC1 ; + skos:exactMatch UMLS:C1853292, + HGNC:30591, + HGNC_symbol:PRAC1 ; biolink:category biolink:Gene . OMIM:609820 a owl:Class ; @@ -271313,10 +281725,10 @@ OMIM:609820 a owl:Class ; IAO:0000142 PMID:16407130, PMID:17579185, PMID:19092153 ; - oboInOwl:hasDbXref UMLS:C1853286 ; oboInOwl:hasExactSynonym "ECYT3", "erythrocytosis, familial, 3" ; rdfs:subClassOf OMIMPS:133100 ; + skos:exactMatch UMLS:C1853286 ; biolink:category biolink:Disease . OMIM:609824 a owl:Class ; @@ -271325,13 +281737,14 @@ OMIM:609824 a owl:Class ; PMID:19851446, PMID:21478856, PMID:27723721 ; - oboInOwl:hasDbXref UMLS:C1539674 ; oboInOwl:hasExactSynonym "HORMAD1", "horma domain-containing protein 1", "nohma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84072 ; - skos:exactMatch HGNC_symbol:HORMAD1 ; + skos:exactMatch UMLS:C1539674, + HGNC:25245, + HGNC_symbol:HORMAD1 ; biolink:category biolink:Gene . OMIM:609825 a owl:Class ; @@ -271352,14 +281765,15 @@ OMIM:609825 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chr4q21.23 ; RO:0003303 OMIM:146500 ; - oboInOwl:hasDbXref UMLS:C1824776 ; oboInOwl:hasExactSynonym "COQ2", "coenzyme q2, polyprenyltransferase", "coq2, s. cerevisiae, homolog of", "parahydroxybenzoate-polyprenyltransferase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27235 ; - skos:exactMatch HGNC_symbol:COQ2 ; + skos:exactMatch UMLS:C1824776, + HGNC:25223, + HGNC_symbol:COQ2 ; biolink:category biolink:Gene . OMIM:609826 a owl:Class ; @@ -271371,46 +281785,48 @@ OMIM:609826 a owl:Class ; PMID:2983203 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:241530 ; - oboInOwl:hasDbXref UMLS:C1426845 ; oboInOwl:hasExactSynonym "SLC34A3", "sodium/inorganic phosphate cotransporter, iia 2c", "solute carrier family 34 (sodium/phosphate cotransporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142680 ; - skos:exactMatch HGNC_symbol:SLC34A3 ; + skos:exactMatch UMLS:C1426845, + HGNC:20305, + HGNC_symbol:SLC34A3 ; biolink:category biolink:Gene . OMIM:609827 a owl:Class ; rdfs:label "PELI3" ; IAO:0000142 PMID:12874243, PMID:15917247 ; - oboInOwl:hasDbXref UMLS:C1826566 ; oboInOwl:hasExactSynonym "PELI3", "pellino e3 ubiquitin protein ligase 3", "pellino, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246330 ; - skos:exactMatch HGNC_symbol:PELI3 ; + skos:exactMatch UMLS:C1826566, + HGNC:30010, + HGNC_symbol:PELI3 ; biolink:category biolink:Gene . OMIM:609828 a owl:Class ; rdfs:label "FSD1" ; IAO:0000142 PMID:11267680, PMID:12445389 ; - oboInOwl:hasDbXref UMLS:C1422180 ; oboInOwl:hasExactSynonym "FSD1", "fibronectin iia 3 and spry domains-containing protein 1", "glfnd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79187 ; - skos:exactMatch HGNC_symbol:FSD1 ; + skos:exactMatch UMLS:C1422180, + HGNC:13745, + HGNC_symbol:FSD1 ; biolink:category biolink:Gene . OMIM:609829 a owl:Class ; rdfs:label "FSD1NL" ; IAO:0000142 PMID:11267680, PMID:12154070 ; - oboInOwl:hasDbXref UMLS:C1825321 ; oboInOwl:hasExactSynonym "FSD1NL", "coiled-coil domain-containing protein 10", "fsd1 n-terminus-like protein", @@ -271418,7 +281834,9 @@ OMIM:609829 a owl:Class ; "mid1-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83856 ; - skos:exactMatch HGNC_symbol:FSD1L ; + skos:exactMatch UMLS:C1825321, + HGNC:13753, + HGNC_symbol:FSD1L ; biolink:category biolink:Gene . OMIM:609830 a owl:Class ; @@ -271437,39 +281855,42 @@ OMIM:609831 a owl:Class ; PMID:29302025 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:277400 ; - oboInOwl:hasDbXref UMLS:C1826260 ; oboInOwl:hasExactSynonym "MMACHC", "metabolism of cobalamin associated c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25974 ; - skos:exactMatch HGNC_symbol:MMACHC ; + skos:exactMatch UMLS:C1826260, + HGNC:24525, + HGNC_symbol:MMACHC ; biolink:category biolink:Gene . OMIM:609832 a owl:Class ; rdfs:label "SLC47A1" ; IAO:0000142 PMID:16330770, PMID:19158817 ; - oboInOwl:hasDbXref UMLS:C1853262 ; oboInOwl:hasExactSynonym "SLC47A1", "multidrug and toxin extrusion protein 1", "solute carrier family 47, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55244 ; - skos:exactMatch HGNC_symbol:SLC47A1 ; + skos:exactMatch UMLS:C1853262, + HGNC:25588, + HGNC_symbol:SLC47A1 ; biolink:category biolink:Gene . OMIM:609833 a owl:Class ; rdfs:label "SLC47A2" ; IAO:0000142 PMID:16330770, PMID:19158817 ; - oboInOwl:hasDbXref UMLS:C1853261 ; oboInOwl:hasExactSynonym "SLC47A2", "mate2k", "multidrug and toxin extrusion protein 2", "solute carrier family 47, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146802 ; - skos:exactMatch HGNC_symbol:SLC47A2 ; + skos:exactMatch UMLS:C1853261, + HGNC:26439, + HGNC_symbol:SLC47A2 ; biolink:category biolink:Gene . OMIM:609834 a owl:Class ; @@ -271480,39 +281901,42 @@ OMIM:609834 a owl:Class ; PMID:17130240, PMID:18263876, PMID:9461395 ; - oboInOwl:hasDbXref UMLS:C1419974 ; oboInOwl:hasExactSynonym "SETMAR", "metnase", "set and mariner transposase domains-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6419 ; - skos:exactMatch HGNC_symbol:SETMAR ; + skos:exactMatch UMLS:C1419974, + HGNC:10762, + HGNC_symbol:SETMAR ; biolink:category biolink:Gene . OMIM:609835 a owl:Class ; rdfs:label "MYCBPAP" ; IAO:0000142 PMID:12151104 ; - oboInOwl:hasDbXref UMLS:C1426327 ; oboInOwl:hasExactSynonym "MYCBPAP", "amy1-associating protein 1", "mycbp-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84073 ; - skos:exactMatch HGNC_symbol:MYCBPAP ; + skos:exactMatch UMLS:C1426327, + HGNC:19677, + HGNC_symbol:MYCBPAP ; biolink:category biolink:Gene . OMIM:609836 a owl:Class ; rdfs:label "PCBD2" ; IAO:0000142 PMID:11980910, PMID:15182178 ; - oboInOwl:hasDbXref UMLS:C1538596 ; oboInOwl:hasExactSynonym "PCBD2", "dimerization cofactor of hepatocyte nuclear factor 1 from muscle", "dimerization cofactor of hepatocyte nuclear factor 1-alpha 2", "pterin-4-alpha-carbinolamine dehydratase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84105 ; - skos:exactMatch HGNC_symbol:PCBD2 ; + skos:exactMatch UMLS:C1538596, + HGNC:24474, + HGNC_symbol:PCBD2 ; biolink:category biolink:Gene . OMIM:609837 a owl:Class ; @@ -271525,7 +281949,6 @@ OMIM:609837 a owl:Class ; PMID:19304781, PMID:20053671, PMID:23771028 ; - oboInOwl:hasDbXref UMLS:C1835962 ; oboInOwl:hasExactSynonym "SNORD115-1", "mbii-52, mouse, homolog of", "rna, hbii-52 small nucleolar", @@ -271533,33 +281956,37 @@ OMIM:609837 a owl:Class ; "snorna, hbii-52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338433 ; - skos:exactMatch HGNC_symbol:SNORD115-1 ; + skos:exactMatch UMLS:C1835962, + HGNC:33020, + HGNC_symbol:SNORD115-1 ; biolink:category biolink:Gene . OMIM:609838 a owl:Class ; rdfs:label "SLC24A2" ; IAO:0000142 PMID:10662833, PMID:11294880 ; - oboInOwl:hasDbXref UMLS:C1420147 ; oboInOwl:hasExactSynonym "SLC24A2", "retinal cone sodium/potassium/calcium exchanger", "sodium/potassium/calcium exchanger 2", "solute carrier family 24 (sodium/potassium/calcium exchanger), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25769 ; - skos:exactMatch HGNC_symbol:SLC24A2 ; + skos:exactMatch UMLS:C1420147, + HGNC:10976, + HGNC_symbol:SLC24A2 ; biolink:category biolink:Gene . OMIM:609839 a owl:Class ; rdfs:label "SLC24A3" ; IAO:0000142 PMID:11294880 ; - oboInOwl:hasDbXref UMLS:C1420148 ; oboInOwl:hasExactSynonym "SLC24A3", "sodium/potassium/calcium exchanger 3", "solute carrier family 24 (sodium/potassium/calcium exchanger), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57419 ; - skos:exactMatch HGNC_symbol:SLC24A3 ; + skos:exactMatch UMLS:C1420148, + HGNC:10977, + HGNC_symbol:SLC24A3 ; biolink:category biolink:Gene . OMIM:609840 a owl:Class ; @@ -271573,15 +282000,16 @@ OMIM:609840 a owl:Class ; PMID:29201383 ; RO:0002525 CHR:9606chr14q32.12 ; RO:0003303 OMIM:210750 ; - oboInOwl:hasDbXref UMLS:C1420149, - UMLS:C2673866, - UMLS:C4014578 ; oboInOwl:hasExactSynonym "SLC24A4", "sodium/potassium/calcium exchanger 4", "solute carrier family 24 (sodium/potassium/calcium exchanger), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123041 ; - skos:exactMatch HGNC_symbol:SLC24A4 ; + skos:exactMatch UMLS:C1420149, + UMLS:C2673866, + UMLS:C4014578, + HGNC:10978, + HGNC_symbol:SLC24A4 ; biolink:category biolink:Gene . OMIM:609841 a owl:Class ; @@ -271589,7 +282017,6 @@ OMIM:609841 a owl:Class ; IAO:0000142 PMID:14625281, PMID:20018762, PMID:28445457 ; - oboInOwl:hasDbXref UMLS:C1539780 ; oboInOwl:hasExactSynonym "SLC8B1", "nclx", "sodium/potassium/calcium exchanger 6", @@ -271597,7 +282024,9 @@ OMIM:609841 a owl:Class ; "solute carrier family 8 (sodium/lithium/calcium exchanger), member b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80024 ; - skos:exactMatch HGNC_symbol:SLC8B1 ; + skos:exactMatch UMLS:C1539780, + HGNC:26175, + HGNC_symbol:SLC8B1 ; biolink:category biolink:Gene . OMIM:609842 a owl:Class ; @@ -271607,7 +282036,6 @@ OMIM:609842 a owl:Class ; PMID:25701870 ; RO:0002525 CHR:9606chr15q24.1 ; RO:0003303 OMIM:616460 ; - oboInOwl:hasDbXref UMLS:C1825025 ; oboInOwl:hasExactSynonym "EDC3", "enhancer of mrna decapping 3", "enhancer of mrna decapping 3, s. cerevisiae, homolog of", @@ -271616,20 +282044,23 @@ OMIM:609842 a owl:Class ; "yjefn domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80153 ; - skos:exactMatch HGNC_symbol:EDC3 ; + skos:exactMatch UMLS:C1825025, + HGNC:26114, + HGNC_symbol:EDC3 ; biolink:category biolink:Gene . OMIM:609843 a owl:Class ; rdfs:label "DCP1B" ; IAO:0000142 PMID:12417715 ; - oboInOwl:hasDbXref UMLS:C1539226 ; oboInOwl:hasExactSynonym "DCP1B", "dcp1, s. cerevisiae, homolog of, B", "decapping enzyme 1, s. cerevisiae, homolog of, B", "decapping mrna 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196513 ; - skos:exactMatch HGNC_symbol:DCP1B ; + skos:exactMatch UMLS:C1539226, + HGNC:24451, + HGNC_symbol:DCP1B ; biolink:category biolink:Gene . OMIM:609844 a owl:Class ; @@ -271641,7 +282072,6 @@ OMIM:609844 a owl:Class ; PMID:17157254, PMID:28002401, PMID:9490301 ; - oboInOwl:hasDbXref UMLS:C1539227 ; oboInOwl:hasExactSynonym "DCP2", "dcp2, s. cerevisiae, homolog of", "decapping enzyme 2, s. cerevisiae, homolog of", @@ -271649,7 +282079,9 @@ OMIM:609844 a owl:Class ; "nudix hydrolase 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:167227 ; - skos:exactMatch HGNC_symbol:DCP2 ; + skos:exactMatch UMLS:C1539227, + HGNC:24452, + HGNC_symbol:DCP2 ; biolink:category biolink:Gene . OMIM:609845 a owl:Class ; @@ -271668,25 +282100,27 @@ OMIM:609845 a owl:Class ; PMID:8609217 ; RO:0002525 CHR:9606chr3q26.1 ; RO:0003303 OMIM:222900 ; - oboInOwl:hasDbXref UMLS:C1420044 ; oboInOwl:hasExactSynonym "SI", "sucrase-isomaltase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6476 ; - skos:exactMatch HGNC_symbol:SI ; + skos:exactMatch UMLS:C1420044, + HGNC:10856, + HGNC_symbol:SI ; biolink:category biolink:Gene . OMIM:609846 a owl:Class ; rdfs:label "REG4" ; IAO:0000142 PMID:11311942, PMID:12455032 ; - oboInOwl:hasDbXref UMLS:C1427829 ; oboInOwl:hasExactSynonym "REG4", "reg 4", "regenerating islet-derived family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83998 ; - skos:exactMatch HGNC_symbol:REG4 ; + skos:exactMatch UMLS:C1427829, + HGNC:22977, + HGNC_symbol:REG4 ; biolink:category biolink:Gene . OMIM:609847 a owl:Class ; @@ -271695,39 +282129,42 @@ OMIM:609847 a owl:Class ; PMID:25731175, PMID:26926082, PMID:31292548 ; - oboInOwl:hasDbXref UMLS:C1835953 ; oboInOwl:hasExactSynonym "NOTUM", "notum, drosophila, homolog of", "notum, palmitoleoyl-protein carboxylesterase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147111 ; - skos:exactMatch HGNC_symbol:NOTUM ; + skos:exactMatch UMLS:C1835953, + HGNC:27106, + HGNC_symbol:NOTUM ; biolink:category biolink:Gene . OMIM:609848 a owl:Class ; rdfs:label "KCTD11" ; IAO:0000142 PMID:12186855, PMID:15249678 ; - oboInOwl:hasDbXref UMLS:C1427479 ; oboInOwl:hasExactSynonym "KCTD11", "gene induced by retinoic acid, egf, and ngf", "potassium channel tetramerization domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147040 ; - skos:exactMatch HGNC_symbol:KCTD11 ; + skos:exactMatch UMLS:C1427479, + HGNC:21302, + HGNC_symbol:KCTD11 ; biolink:category biolink:Gene . OMIM:609849 a owl:Class ; rdfs:label "CORO1B" ; IAO:0000142 PMID:16027158, PMID:9778037 ; - oboInOwl:hasDbXref UMLS:C1413623 ; oboInOwl:hasExactSynonym "CORO1B", "coronin 1b", "coronin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57175 ; - skos:exactMatch HGNC_symbol:CORO1B ; + skos:exactMatch UMLS:C1413623, + HGNC:2253, + HGNC_symbol:CORO1B ; biolink:category biolink:Gene . OMIM:609850 a owl:Class ; @@ -271735,26 +282172,28 @@ OMIM:609850 a owl:Class ; IAO:0000142 PMID:10470851, PMID:10965142, PMID:18931681 ; - oboInOwl:hasDbXref UMLS:C1420593 ; oboInOwl:hasExactSynonym "TBC1D1", "kiaa1108", "tbc1 domain family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23216 ; - skos:exactMatch HGNC_symbol:TBC1D1 ; + skos:exactMatch UMLS:C1420593, + HGNC:11578, + HGNC_symbol:TBC1D1 ; biolink:category biolink:Gene . OMIM:609851 a owl:Class ; rdfs:label "IPMK" ; IAO:0000142 PMID:12027805, PMID:12223481 ; - oboInOwl:hasDbXref UMLS:C1427103 ; oboInOwl:hasExactSynonym "IPMK", "inositol 1,3,4,5-tetrakisphosphate 5-kinase", "inositol polyphosphate multikinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253430 ; - skos:exactMatch HGNC_symbol:IPMK ; + skos:exactMatch UMLS:C1427103, + HGNC:20739, + HGNC_symbol:IPMK ; biolink:category biolink:Gene . OMIM:609852 a owl:Class ; @@ -271762,14 +282201,15 @@ OMIM:609852 a owl:Class ; IAO:0000142 PMID:12070013, PMID:12095687, PMID:15982639 ; - oboInOwl:hasDbXref UMLS:C1421951 ; oboInOwl:hasExactSynonym "MIXL1", "mix", "mix1 homeobox-like protein 1", "mixl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83881 ; - skos:exactMatch HGNC_symbol:MIXL1 ; + skos:exactMatch UMLS:C1421951, + HGNC:13363, + HGNC_symbol:MIXL1 ; biolink:category biolink:Gene . OMIM:609853 a owl:Class ; @@ -271778,23 +282218,25 @@ OMIM:609853 a owl:Class ; PMID:29754768 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:618189 ; - oboInOwl:hasDbXref UMLS:C1826654 ; oboInOwl:hasExactSynonym "PPCS", "phosphopantothenoylcysteine synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79717 ; - skos:exactMatch HGNC_symbol:PPCS ; + skos:exactMatch UMLS:C1826654, + HGNC:25686, + HGNC_symbol:PPCS ; biolink:category biolink:Gene . OMIM:609854 a owl:Class ; rdfs:label "PPCDC" ; IAO:0000142 PMID:11923312 ; - oboInOwl:hasDbXref UMLS:C1826653 ; oboInOwl:hasExactSynonym "PPCDC", "phosphopantothenoylcysteine decarboxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60490 ; - skos:exactMatch HGNC_symbol:PPCDC ; + skos:exactMatch UMLS:C1826653, + HGNC:28107, + HGNC_symbol:PPCDC ; biolink:category biolink:Gene . OMIM:609855 a owl:Class ; @@ -271808,14 +282250,15 @@ OMIM:609855 a owl:Class ; PMID:30089828 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:618266 ; - oboInOwl:hasDbXref UMLS:C1428910 ; oboInOwl:hasExactSynonym "COASY", "coenzyme a synthase", "phosphopantetheine adenylyltransferase/dephosphocoenzyme a kinase", "ppat/dpck" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80347 ; - skos:exactMatch HGNC_symbol:COASY ; + skos:exactMatch UMLS:C1428910, + HGNC:29932, + HGNC_symbol:COASY ; biolink:category biolink:Gene . OMIM:609856 a owl:Class ; @@ -271824,77 +282267,83 @@ OMIM:609856 a owl:Class ; PMID:17847006 ; RO:0002525 CHR:9606chr3q26.31 ; RO:0003303 OMIM:102530 ; - oboInOwl:hasDbXref UMLS:C1539811 ; oboInOwl:hasExactSynonym "SPATA16", "nyd-sp12", "spermatogenesis-associated protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83893 ; - skos:exactMatch HGNC_symbol:SPATA16 ; + skos:exactMatch UMLS:C1539811, + HGNC:29935, + HGNC_symbol:SPATA16 ; biolink:category biolink:Gene . OMIM:609857 a owl:Class ; rdfs:label "DMWD" ; IAO:0000142 PMID:7633444, PMID:7905855 ; - oboInOwl:hasDbXref UMLS:C1414088 ; oboInOwl:hasExactSynonym "DMWD", "dmrn9, mouse, homolog of", "dystrophia myotonica wd repeat-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1762 ; - skos:exactMatch HGNC_symbol:DMWD ; + skos:exactMatch UMLS:C1414088, + HGNC:2936, + HGNC_symbol:DMWD ; biolink:category biolink:Gene . OMIM:609858 a owl:Class ; rdfs:label "ETNK1" ; IAO:0000142 PMID:11044454, PMID:11912161 ; - oboInOwl:hasDbXref UMLS:C1539368 ; oboInOwl:hasExactSynonym "ETNK1", "eki1", "ethanolamine kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55500 ; - skos:exactMatch HGNC_symbol:ETNK1 ; + skos:exactMatch UMLS:C1539368, + HGNC:24649, + HGNC_symbol:ETNK1 ; biolink:category biolink:Gene . OMIM:609859 a owl:Class ; rdfs:label "ETNK2" ; IAO:0000142 PMID:11044454, PMID:15161093 ; - oboInOwl:hasDbXref UMLS:C1539369 ; oboInOwl:hasExactSynonym "ETNK2", "eki2", "ethanolamine kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55224 ; - skos:exactMatch HGNC_symbol:ETNK2 ; + skos:exactMatch UMLS:C1539369, + HGNC:25575, + HGNC_symbol:ETNK2 ; biolink:category biolink:Gene . OMIM:609860 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10812081, PMID:11912161 ; - oboInOwl:hasDbXref UMLS:C1835952 ; oboInOwl:hasExactSynonym "dad1-related gene", "dadr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56286 ; - skos:exactMatch HGNC_symbol:DAD1P1 ; + skos:exactMatch UMLS:C1835952, + HGNC:18295, + HGNC_symbol:DAD1P1 ; biolink:category biolink:Gene . OMIM:609861 a owl:Class ; rdfs:label "IKBIP" ; IAO:0000142 PMID:15389287 ; - oboInOwl:hasDbXref UMLS:C1835951 ; oboInOwl:hasExactSynonym "IKBIP", "i-kappa-b kinase-interacting protein", "ikip", "ikk-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121457 ; - skos:exactMatch HGNC_symbol:IKBIP ; + skos:exactMatch UMLS:C1835951, + HGNC:26430, + HGNC_symbol:IKBIP ; biolink:category biolink:Gene . OMIM:609862 a owl:Class ; @@ -271910,13 +282359,14 @@ OMIM:609862 a owl:Class ; PMID:23554218 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:206200 ; - oboInOwl:hasDbXref UMLS:C1424347 ; oboInOwl:hasExactSynonym "TMPRSS6", "matriptase 2", "transmembrane protease, serine 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:164656 ; - skos:exactMatch HGNC_symbol:TMPRSS6 ; + skos:exactMatch UMLS:C1424347, + HGNC:16517, + HGNC_symbol:TMPRSS6 ; biolink:category biolink:Gene . OMIM:609863 a owl:Class ; @@ -271926,38 +282376,41 @@ OMIM:609863 a owl:Class ; PMID:26477546 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:614173 ; - oboInOwl:hasDbXref UMLS:C1835950 ; oboInOwl:hasExactSynonym "TCTN1", "tectonic", "tectonic 1", "tectonic family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79600 ; - skos:exactMatch HGNC_symbol:TCTN1 ; + skos:exactMatch UMLS:C1835950, + HGNC:26113, + HGNC_symbol:TCTN1 ; biolink:category biolink:Gene . OMIM:609864 a owl:Class ; rdfs:label "PIP4P2" ; IAO:0000142 PMID:16365287 ; - oboInOwl:hasDbXref UMLS:C1823316 ; oboInOwl:hasExactSynonym "PIP4P2", "phosphatidylinositol 4,5-bisphosphate 4-phosphatase, iia 2", "transmembrane protein 55a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55529 ; - skos:exactMatch HGNC_symbol:PIP4P2 ; + skos:exactMatch UMLS:C1823316, + HGNC:25452, + HGNC_symbol:PIP4P2 ; biolink:category biolink:Gene . OMIM:609865 a owl:Class ; rdfs:label "PIP4P1" ; IAO:0000142 PMID:16365287 ; - oboInOwl:hasDbXref UMLS:C1823317 ; oboInOwl:hasExactSynonym "PIP4P1", "phosphatidylinositol 4,5-bisphosphate 4-phosphatase, iia 1", "transmembrane protein 55b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90809 ; - skos:exactMatch HGNC_symbol:PIP4P1 ; + skos:exactMatch UMLS:C1823317, + HGNC:19299, + HGNC_symbol:PIP4P1 ; biolink:category biolink:Gene . OMIM:609866 a owl:Class ; @@ -271965,24 +282418,26 @@ OMIM:609866 a owl:Class ; IAO:0000142 PMID:12531887, PMID:14697242, PMID:16217026 ; - oboInOwl:hasDbXref UMLS:C1426055 ; oboInOwl:hasExactSynonym "STARD13", "deleted 1n liver cancer 2", "start domain-containing protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90627 ; - skos:exactMatch HGNC_symbol:STARD13 ; + skos:exactMatch UMLS:C1426055, + HGNC:19164, + HGNC_symbol:STARD13 ; biolink:category biolink:Gene . OMIM:609867 a owl:Class ; rdfs:label "UBLCP1" ; IAO:0000142 PMID:15883030 ; - oboInOwl:hasDbXref UMLS:C1823581 ; oboInOwl:hasExactSynonym "UBLCP1", "ubiquitin-like domain-containing ctd phosphatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134510 ; - skos:exactMatch HGNC_symbol:UBLCP1 ; + skos:exactMatch UMLS:C1823581, + HGNC:28110, + HGNC_symbol:UBLCP1 ; biolink:category biolink:Gene . OMIM:609868 a owl:Class ; @@ -271993,25 +282448,27 @@ OMIM:609868 a owl:Class ; PMID:21310915 ; RO:0002525 CHR:9606chr14q31.3 ; RO:0003303 OMIM:604232 ; - oboInOwl:hasDbXref UMLS:C1426931 ; oboInOwl:hasExactSynonym "SPATA7", "hsd3", "spermatogenesis-associated protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55812 ; - skos:exactMatch HGNC_symbol:SPATA7 ; + skos:exactMatch UMLS:C1426931, + HGNC:20423, + HGNC_symbol:SPATA7 ; biolink:category biolink:Gene . OMIM:609869 a owl:Class ; rdfs:label "SPATA12" ; IAO:0000142 PMID:15603706 ; - oboInOwl:hasDbXref UMLS:C1427999 ; oboInOwl:hasExactSynonym "SPATA12", "spermatogenesis-associated protein 12", "srg5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353324 ; - skos:exactMatch HGNC_symbol:SPATA12 ; + skos:exactMatch UMLS:C1427999, + HGNC:23221, + HGNC_symbol:SPATA12 ; biolink:category biolink:Gene . OMIM:609870 a owl:Class ; @@ -272020,7 +282477,6 @@ OMIM:609870 a owl:Class ; PMID:12056806, PMID:15793564, PMID:16184169 ; - oboInOwl:hasDbXref UMLS:C1428226 ; oboInOwl:hasExactSynonym "ARHGAP21", "gtpase-activating protein, rho, 21", "kiaa1424", @@ -272028,19 +282484,22 @@ OMIM:609870 a owl:Class ; "rho gtpase-activating protein 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57584 ; - skos:exactMatch HGNC_symbol:ARHGAP21 ; + skos:exactMatch UMLS:C1428226, + HGNC:23725, + HGNC_symbol:ARHGAP21 ; biolink:category biolink:Gene . OMIM:609871 a owl:Class ; rdfs:label "TBC1D2" ; IAO:0000142 PMID:11785977 ; - oboInOwl:hasDbXref UMLS:C1425252 ; oboInOwl:hasExactSynonym "TBC1D2", "paris1", "tbc1 domain family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55357 ; - skos:exactMatch HGNC_symbol:TBC1D2 ; + skos:exactMatch UMLS:C1425252, + HGNC:18026, + HGNC_symbol:TBC1D2 ; biolink:category biolink:Gene . OMIM:609872 a owl:Class ; @@ -272048,14 +282507,15 @@ OMIM:609872 a owl:Class ; IAO:0000142 PMID:11779191, PMID:12574366, PMID:15950183 ; - oboInOwl:hasDbXref UMLS:C1423996 ; oboInOwl:hasExactSynonym "WFDC12", "single wap motif protein 2", "wap 4-disulfide core domain 12", "whey acidic protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128488 ; - skos:exactMatch HGNC_symbol:WFDC12 ; + skos:exactMatch UMLS:C1423996, + HGNC:16115, + HGNC_symbol:WFDC12 ; biolink:category biolink:Gene . OMIM:609873 a owl:Class ; @@ -272063,7 +282523,6 @@ OMIM:609873 a owl:Class ; IAO:0000142 PMID:11181563, PMID:11313366, PMID:11747454 ; - oboInOwl:hasDbXref UMLS:C1425400 ; oboInOwl:hasExactSynonym "ITLN1", "hl1", "intelectin 1", @@ -272071,20 +282530,23 @@ OMIM:609873 a owl:Class ; "lactoferrin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55600 ; - skos:exactMatch HGNC_symbol:ITLN1 ; + skos:exactMatch UMLS:C1425400, + HGNC:18259, + HGNC_symbol:ITLN1 ; biolink:category biolink:Gene . OMIM:609874 a owl:Class ; rdfs:label "ITLN2" ; IAO:0000142 PMID:11181563, PMID:15265922 ; - oboInOwl:hasDbXref UMLS:C1427023 ; oboInOwl:hasExactSynonym "ITLN2", "hl2", "intelectin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142683 ; - skos:exactMatch HGNC_symbol:ITLN2 ; + skos:exactMatch UMLS:C1427023, + HGNC:20599, + HGNC_symbol:ITLN2 ; biolink:category biolink:Gene . OMIM:609875 a owl:Class ; @@ -272100,32 +282562,33 @@ OMIM:609875 a owl:Class ; PMID:9806930 ; RO:0002525 CHR:9606chr10q21.3 ; RO:0003303 OMIM:221900 ; - oboInOwl:hasDbXref UMLS:C1422261, - UMLS:C3277560 ; oboInOwl:hasExactSynonym "ATOH7", "atonal bhlh transcription factor 7", "atonal, drosophila, homolog of, 7", "regulatory element, cis-acting, enhancer, 21.7 kb upstream of atoh7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220202 ; - skos:exactMatch HGNC_symbol:ATOH7 ; + skos:exactMatch UMLS:C1422261, + UMLS:C3277560, + HGNC:13907, + HGNC_symbol:ATOH7 ; biolink:category biolink:Gene . OMIM:609877 a owl:Class ; rdfs:label "CRYL1" ; IAO:0000142 PMID:12527201 ; - oboInOwl:hasDbXref UMLS:C1425393 ; oboInOwl:hasExactSynonym "CRYL1", "crystallin, lambda-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51084 ; - skos:exactMatch HGNC_symbol:CRYL1 ; + skos:exactMatch UMLS:C1425393, + HGNC:18246, + HGNC_symbol:CRYL1 ; biolink:category biolink:Gene . OMIM:609878 a owl:Class ; rdfs:label "MED9" ; IAO:0000142 PMID:14638676 ; - oboInOwl:hasDbXref UMLS:C1537676 ; oboInOwl:hasExactSynonym "MED9", "flj10193", "med25", @@ -272133,20 +282596,23 @@ OMIM:609878 a owl:Class ; "mediator of RNA polymerase 2 transcription, subunit 9, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55090 ; - skos:exactMatch HGNC_symbol:MED9 ; + skos:exactMatch UMLS:C1537676, + HGNC:25487, + HGNC_symbol:MED9 ; biolink:category biolink:Gene . OMIM:609879 a owl:Class ; rdfs:label "SPATA4" ; IAO:0000142 PMID:12417927, PMID:15158438 ; - oboInOwl:hasDbXref UMLS:C1424909 ; oboInOwl:hasExactSynonym "SPATA4", "spermatogenesis-associated protein 4", "testis- and spermatogenesis cell-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132851 ; - skos:exactMatch HGNC_symbol:SPATA4 ; + skos:exactMatch UMLS:C1424909, + HGNC:17333, + HGNC_symbol:SPATA4 ; biolink:category biolink:Gene . OMIM:609880 a owl:Class ; @@ -272154,34 +282620,35 @@ OMIM:609880 a owl:Class ; IAO:0000142 PMID:10438470, PMID:10930412, PMID:31827282 ; - oboInOwl:hasDbXref UMLS:C1424687 ; oboInOwl:hasExactSynonym "KAT7", "histone acetyltransferase binding to orc1", "histone acetyltransferase myst2", "lysine acetyltransferase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11143 ; - skos:exactMatch HGNC_symbol:KAT7 ; + skos:exactMatch UMLS:C1424687, + HGNC:17016, + HGNC_symbol:KAT7 ; biolink:category biolink:Gene . OMIM:609881 a owl:Class ; rdfs:label "POLR2J2" ; IAO:0000142 PMID:11747469 ; - oboInOwl:hasDbXref UMLS:C1835948 ; oboInOwl:hasExactSynonym "POLR2J2", "RNA polymerase 2 polypeptide j-related gene", "RNA polymerase ii, subunit j2", "rpb11, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246721 ; - skos:exactMatch HGNC_symbol:POLR2J2 ; + skos:exactMatch UMLS:C1835948, + HGNC:23208, + HGNC_symbol:POLR2J2 ; biolink:category biolink:Gene . OMIM:609882 a owl:Class ; rdfs:label "MTF2" ; IAO:0000142 PMID:29808031, PMID:7772254 ; - oboInOwl:hasDbXref UMLS:C1826320 ; oboInOwl:hasExactSynonym "MTF2", "m96", "metal response element-binding transcription factor 2", @@ -272189,7 +282656,9 @@ OMIM:609882 a owl:Class ; "pcl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22823 ; - skos:exactMatch HGNC_symbol:MTF2 ; + skos:exactMatch UMLS:C1826320, + HGNC:29535, + HGNC_symbol:MTF2 ; biolink:category biolink:Gene . OMIM:609883 a owl:Class ; @@ -272209,10 +282678,6 @@ OMIM:609883 a owl:Class ; PMID:6486167 ; RO:0002525 CHR:9606chr17q22 ; RO:0003303 OMIM:249000 ; - oboInOwl:hasDbXref UMLS:C1417186, - UMLS:C2673873, - UMLS:C3714506, - UMLS:C4310705 ; oboInOwl:hasExactSynonym "MKS1", "bbs13 gene", "flj20345", @@ -272220,7 +282685,12 @@ OMIM:609883 a owl:Class ; "mks1 transition zone complex subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54903 ; - skos:exactMatch HGNC_symbol:MKS1 ; + skos:exactMatch UMLS:C1417186, + UMLS:C2673873, + UMLS:C3714506, + UMLS:C4310705, + HGNC:7121, + HGNC_symbol:MKS1 ; biolink:category biolink:Gene . OMIM:609884 a owl:Class ; @@ -272247,32 +282717,34 @@ OMIM:609884 a owl:Class ; PMID:9375913 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:615991 ; - oboInOwl:hasDbXref UMLS:C1823331, - UMLS:C1846357, - UMLS:C1853153, - UMLS:C1865794, - UMLS:C3150796, - UMLS:C4017203, - UMLS:C4017204, - UMLS:C5435651 ; oboInOwl:hasExactSynonym "TMEM67", "meckelin", "mks3 gene", "transmembrane protein 67" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91147 ; - skos:exactMatch HGNC_symbol:TMEM67 ; + skos:exactMatch UMLS:C1823331, + UMLS:C1846357, + UMLS:C1853153, + UMLS:C1865794, + UMLS:C3150796, + UMLS:C4017203, + UMLS:C4017204, + UMLS:C5435651, + HGNC:28396, + HGNC_symbol:TMEM67 ; biolink:category biolink:Gene . OMIM:609885 a owl:Class ; rdfs:label "ELL3" ; IAO:0000142 PMID:10882741 ; - oboInOwl:hasDbXref UMLS:C1427924 ; oboInOwl:hasExactSynonym "ELL3", "elongation factor, RNA polymerase ii, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80237 ; - skos:exactMatch HGNC_symbol:ELL3 ; + skos:exactMatch UMLS:C1427924, + HGNC:23113, + HGNC_symbol:ELL3 ; biolink:category biolink:Gene . OMIM:609886 a owl:Class ; @@ -272283,8 +282755,8 @@ OMIM:609886 a owl:Class ; OMIM:609889 a owl:Class ; rdfs:label "alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity" ; IAO:0000142 PMID:16276422 ; - oboInOwl:hasDbXref UMLS:C1835931 ; oboInOwl:hasExactSynonym "alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity" ; + skos:exactMatch UMLS:C1835931 ; biolink:category biolink:Disease . OMIM:609890 a owl:Class ; @@ -272293,7 +282765,6 @@ OMIM:609890 a owl:Class ; PMID:16061792, PMID:16214886, PMID:23982692 ; - oboInOwl:hasDbXref UMLS:C1538258 ; oboInOwl:hasExactSynonym "UBR4", "kiaa1307", "p600", @@ -272301,7 +282772,9 @@ OMIM:609890 a owl:Class ; "ubiquitin protein ligase e3 component n-recognin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23352 ; - skos:exactMatch HGNC_symbol:UBR4 ; + skos:exactMatch UMLS:C1538258, + HGNC:30313, + HGNC_symbol:UBR4 ; biolink:category biolink:Gene . OMIM:609891 a owl:Class ; @@ -272312,26 +282785,28 @@ OMIM:609891 a owl:Class ; PMID:26238661 ; RO:0002525 CHR:9606chr6q14.2 ; RO:0003303 OMIM:616566 ; - oboInOwl:hasDbXref UMLS:C2700597 ; oboInOwl:hasExactSynonym "RIPPLY2", "chromosome 6 open reading frame 59", "ripply transcriptional repressor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134701 ; - skos:exactMatch HGNC_symbol:RIPPLY2 ; + skos:exactMatch UMLS:C2700597, + HGNC:21390, + HGNC_symbol:RIPPLY2 ; biolink:category biolink:Gene . OMIM:609892 a owl:Class ; rdfs:label "RIPPLY3" ; IAO:0000142 PMID:10814524, PMID:16326386 ; - oboInOwl:hasDbXref UMLS:C1414167 ; oboInOwl:hasExactSynonym "RIPPLY3", "down syndrome critical region gene 6", "ripply transcriptional repressor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53820 ; - skos:exactMatch HGNC_symbol:RIPPLY3 ; + skos:exactMatch UMLS:C1414167, + HGNC:3047, + HGNC_symbol:RIPPLY3 ; biolink:category biolink:Gene . OMIM:609894 a owl:Class ; @@ -272343,8 +282818,6 @@ OMIM:609894 a owl:Class ; PMID:27648472, PMID:28192369, PMID:32627229 ; - oboInOwl:hasDbXref UMLS:C1427949, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "UNC13A", "kiaa1032", "munc13-1", @@ -272352,7 +282825,10 @@ OMIM:609894 a owl:Class ; "unc13, c. elegans, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23025 ; - skos:exactMatch HGNC_symbol:UNC13A ; + skos:exactMatch UMLS:C1427949, + UMLS:C2986382, + HGNC:23150, + HGNC_symbol:UNC13A ; biolink:category biolink:Gene . OMIM:609895 a owl:Class ; @@ -272360,35 +282836,38 @@ OMIM:609895 a owl:Class ; IAO:0000142 PMID:16322216, PMID:16631614, PMID:25190801 ; - oboInOwl:hasDbXref UMLS:C1824533 ; oboInOwl:hasExactSynonym "CASZ1", "castor zinc finger protein 1", "survival-related gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54897 ; - skos:exactMatch HGNC_symbol:CASZ1 ; + skos:exactMatch UMLS:C1824533, + HGNC:26002, + HGNC_symbol:CASZ1 ; biolink:category biolink:Gene . OMIM:609896 a owl:Class ; rdfs:label "EIF4E3" ; IAO:0000142 PMID:15153109 ; - oboInOwl:hasDbXref UMLS:C1539348 ; oboInOwl:hasExactSynonym "EIF4E3", "eif4e family, member 3", "eukaryotic translation initiation factor 4e family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:317649 ; - skos:exactMatch HGNC_symbol:EIF4E3 ; + skos:exactMatch UMLS:C1539348, + HGNC:31837, + HGNC_symbol:EIF4E3 ; biolink:category biolink:Gene . OMIM:609897 a owl:Class ; rdfs:label "EGFL8" ; - oboInOwl:hasDbXref UMLS:C1422291 ; oboInOwl:hasExactSynonym "EGFL8", "epidermal growth factor-like 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80864 ; - skos:exactMatch HGNC_symbol:EGFL8 ; + skos:exactMatch UMLS:C1422291, + HGNC:13944, + HGNC_symbol:EGFL8 ; biolink:category biolink:Gene . OMIM:609898 a owl:Class ; @@ -272400,51 +282879,55 @@ OMIM:609898 a owl:Class ; PMID:27049303 ; RO:0002525 CHR:9606chr22q12.1 ; RO:0003303 OMIM:617392 ; - oboInOwl:hasDbXref UMLS:C1424993 ; oboInOwl:hasExactSynonym "KREMEN1", "kremen", "kringle domain-containing transmembrane protein 1", "krm1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83999 ; - skos:exactMatch HGNC_symbol:KREMEN1 ; + skos:exactMatch UMLS:C1424993, + HGNC:17550, + HGNC_symbol:KREMEN1 ; biolink:category biolink:Gene . OMIM:609899 a owl:Class ; rdfs:label "KREMEN2" ; IAO:0000142 PMID:12050670, PMID:18505822 ; - oboInOwl:hasDbXref UMLS:C1425781 ; oboInOwl:hasExactSynonym "KREMEN2", "kringle domain-containing transmembrane protein 2", "krm2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79412 ; - skos:exactMatch HGNC_symbol:KREMEN2 ; + skos:exactMatch UMLS:C1425781, + HGNC:18797, + HGNC_symbol:KREMEN2 ; biolink:category biolink:Gene . OMIM:609900 a owl:Class ; rdfs:label "APOBEC3D" ; IAO:0000142 PMID:11863358 ; - oboInOwl:hasDbXref UMLS:C1424927 ; oboInOwl:hasExactSynonym "APOBEC3D", "apolipoprotein B mrna-editing enzyme, catalytic polypeptide-like 3d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140564 ; - skos:exactMatch HGNC_symbol:APOBEC3D ; + skos:exactMatch UMLS:C1424927, + HGNC:17354, + HGNC_symbol:APOBEC3D ; biolink:category biolink:Gene . OMIM:609901 a owl:Class ; rdfs:label "ANKS4B" ; IAO:0000142 PMID:15461667 ; - oboInOwl:hasDbXref UMLS:C1823696 ; oboInOwl:hasExactSynonym "ANKS4B", "ankyrin repeat and sterile alpha motif domains-containing protein 4b", "flj38819", "harmonin-interacting, ankyrin repeat-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257629 ; - skos:exactMatch HGNC_symbol:ANKS4B ; + skos:exactMatch UMLS:C1823696, + HGNC:26795, + HGNC_symbol:ANKS4B ; biolink:category biolink:Gene . OMIM:609902 a owl:Class ; @@ -272464,7 +282947,6 @@ OMIM:609904 a owl:Class ; PMID:18675384, PMID:20647423, PMID:22121020 ; - oboInOwl:hasDbXref UMLS:C1425744 ; oboInOwl:hasExactSynonym "HIST1H2BA", "h2b histone family, member u", "hist1 cluster, h2ba", @@ -272473,7 +282955,9 @@ OMIM:609904 a owl:Class ; "testis-specific histone h2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255626 ; - skos:exactMatch HGNC_symbol:H2BC1 ; + skos:exactMatch UMLS:C1425744, + HGNC:18730, + HGNC_symbol:H2BC1 ; biolink:category biolink:Gene . OMIM:609905 a owl:Class ; @@ -272481,50 +282965,54 @@ OMIM:609905 a owl:Class ; IAO:0000142 PMID:2526655 ; RO:0002525 CHR:9606chr20q11.23 ; RO:0003303 OMIM:619365 ; - oboInOwl:hasDbXref UMLS:C1423704 ; oboInOwl:hasExactSynonym "MYL9", "mlc2", "myosin light chain 9, regulatory" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10398 ; - skos:exactMatch HGNC_symbol:MYL9 ; + skos:exactMatch UMLS:C1423704, + HGNC:15754, + HGNC_symbol:MYL9 ; biolink:category biolink:Gene . OMIM:609906 a owl:Class ; rdfs:label "EFS" ; IAO:0000142 PMID:20404100, PMID:9349509 ; - oboInOwl:hasDbXref UMLS:C1424622 ; oboInOwl:hasExactSynonym "EFS", "cas scaffold protein family, member 3", "embryonal fyn-associated substrate", "src-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10278 ; - skos:exactMatch HGNC_symbol:EFS ; + skos:exactMatch UMLS:C1424622, + HGNC:16898, + HGNC_symbol:EFS ; biolink:category biolink:Gene . OMIM:609907 a owl:Class ; rdfs:label "SEMA3D" ; IAO:0000142 PMID:16261621, PMID:16280593 ; - oboInOwl:hasDbXref UMLS:C1419945 ; oboInOwl:hasExactSynonym "SEMA3D", "semaphorin 3d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:223117 ; - skos:exactMatch HGNC_symbol:SEMA3D ; + skos:exactMatch UMLS:C1419945, + HGNC:10726, + HGNC_symbol:SEMA3D ; biolink:category biolink:Gene . OMIM:609908 a owl:Class ; rdfs:label "APOBEC4" ; IAO:0000142 PMID:16082223 ; - oboInOwl:hasDbXref UMLS:C1824091 ; oboInOwl:hasExactSynonym "APOBEC4", "apolipoprotein B mrna-editing enzyme, catalytic polypeptide-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:403314 ; - skos:exactMatch HGNC_symbol:APOBEC4 ; + skos:exactMatch UMLS:C1824091, + HGNC:32152, + HGNC_symbol:APOBEC4 ; biolink:category biolink:Gene . OMIM:609909 a owl:Class ; @@ -272533,10 +283021,10 @@ OMIM:609909 a owl:Class ; PMID:12639993, PMID:16432188, PMID:18241046 ; - oboInOwl:hasDbXref UMLS:C1835928 ; oboInOwl:hasExactSynonym "CMD1P", "cardiomyopathy, dilated, 1p" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1835928 ; biolink:category biolink:Disease . OMIM:609910 a owl:Class ; @@ -272545,7 +283033,6 @@ OMIM:609910 a owl:Class ; PMID:32161152 ; RO:0002525 CHR:9606chr3q13.33 ; RO:0003303 OMIM:619177 ; - oboInOwl:hasDbXref UMLS:C1540226 ; oboInOwl:hasExactSynonym "CFAP91", "amy1-associated protein expressed 1n testis 1", "chromosome 3 open reading frame 15", @@ -272553,19 +283040,22 @@ OMIM:609910 a owl:Class ; "mycbp-associated testis-expressed protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89876 ; - skos:exactMatch HGNC_symbol:CFAP91 ; + skos:exactMatch UMLS:C1540226, + HGNC:24010, + HGNC_symbol:CFAP91 ; biolink:category biolink:Gene . OMIM:609911 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15322095 ; - oboInOwl:hasDbXref UMLS:C1426699 ; oboInOwl:hasExactSynonym "chromosome 14 open reading frame 68", "hdmcp", "hepatocellular carcinoma-downregulated mitochondrial carrier protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283600 ; - skos:exactMatch HGNC_symbol:SLC25A47 ; + skos:exactMatch UMLS:C1426699, + HGNC:20115, + HGNC_symbol:SLC25A47 ; biolink:category biolink:Gene . OMIM:609912 a owl:Class ; @@ -272578,34 +283068,35 @@ OMIM:609912 a owl:Class ; PMID:31794431 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:618974 ; - oboInOwl:hasDbXref UMLS:C1425187, - UMLS:C5436525 ; oboInOwl:hasExactSynonym "KAT8", "histone acetyltransferase myst1", "lysine acetyltransferase 8", "mof, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84148 ; - skos:exactMatch HGNC_symbol:KAT8 ; + skos:exactMatch UMLS:C1425187, + UMLS:C5436525, + HGNC:17933, + HGNC_symbol:KAT8 ; biolink:category biolink:Gene . OMIM:609914 a owl:Class ; rdfs:label "AQP11" ; IAO:0000142 PMID:16107722 ; - oboInOwl:hasDbXref UMLS:C1426548 ; oboInOwl:hasExactSynonym "AQP11", "aqpx1", "aquaporin 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282679 ; - skos:exactMatch HGNC_symbol:AQP11 ; + skos:exactMatch UMLS:C1426548, + HGNC:19940, + HGNC_symbol:AQP11 ; biolink:category biolink:Gene . OMIM:609916 a owl:Class ; rdfs:label "AZI2" ; IAO:0000142 PMID:10580148, PMID:14560022 ; - oboInOwl:hasDbXref UMLS:C1538310 ; oboInOwl:hasExactSynonym "5-azacytidine-induced gene 2, mouse, homolog of", "5-azacytidine-induced protein 2", "AZI2", @@ -272614,44 +283105,49 @@ OMIM:609916 a owl:Class ; "tilp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64343 ; - skos:exactMatch HGNC_symbol:AZI2 ; + skos:exactMatch UMLS:C1538310, + HGNC:24002, + HGNC_symbol:AZI2 ; biolink:category biolink:Gene . OMIM:609917 a owl:Class ; rdfs:label "PRNPIP" ; IAO:0000142 PMID:11571277 ; - oboInOwl:hasDbXref UMLS:C1424867 ; oboInOwl:hasExactSynonym "PRNPIP", "prion interactor 1", "prion protein-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79033 ; - skos:exactMatch HGNC_symbol:ERI3 ; + skos:exactMatch UMLS:C1424867, + HGNC:17276, + HGNC_symbol:ERI3 ; biolink:category biolink:Gene . OMIM:609920 a owl:Class ; rdfs:label "CDH22" ; IAO:0000142 PMID:8626716 ; - oboInOwl:hasDbXref UMLS:C1421905 ; oboInOwl:hasExactSynonym "CDH22", "cadherin 22", "cadherin, pituitary and brain", "pb-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64405 ; - skos:exactMatch HGNC_symbol:CDH22 ; + skos:exactMatch UMLS:C1421905, + HGNC:13251, + HGNC_symbol:CDH22 ; biolink:category biolink:Gene . OMIM:609921 a owl:Class ; rdfs:label "LRP10" ; IAO:0000142 PMID:11123907 ; - oboInOwl:hasDbXref UMLS:C1422751 ; oboInOwl:hasExactSynonym "LRP10", "low density lipoprotein receptor-related protein 10", "lrp9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26020 ; - skos:exactMatch HGNC_symbol:LRP10 ; + skos:exactMatch UMLS:C1422751, + HGNC:14553, + HGNC_symbol:LRP10 ; biolink:category biolink:Gene . OMIM:609922 a owl:Class ; @@ -272661,37 +283157,40 @@ OMIM:609922 a owl:Class ; PMID:18264098 ; RO:0002525 CHR:9606chr2p15 ; RO:0003303 OMIM:611868 ; - oboInOwl:hasDbXref UMLS:C1539336 ; oboInOwl:hasExactSynonym "EHBP1", "eh domain-binding protein 1", "kiaa0903" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23301 ; - skos:exactMatch HGNC_symbol:EHBP1 ; + skos:exactMatch UMLS:C1539336, + HGNC:29144, + HGNC_symbol:EHBP1 ; biolink:category biolink:Gene . OMIM:609925 a owl:Class ; rdfs:label "DPEP2" ; IAO:0000142 PMID:12738806 ; - oboInOwl:hasDbXref UMLS:C1427861 ; oboInOwl:hasExactSynonym "DPEP2", "dipeptidase 2", "membrane-bound dipeptidase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64174 ; - skos:exactMatch HGNC_symbol:DPEP2 ; + skos:exactMatch UMLS:C1427861, + HGNC:23028, + HGNC_symbol:DPEP2 ; biolink:category biolink:Gene . OMIM:609926 a owl:Class ; rdfs:label "DPEP3" ; IAO:0000142 PMID:12738806 ; - oboInOwl:hasDbXref UMLS:C1427862 ; oboInOwl:hasExactSynonym "DPEP3", "dipeptidase 3", "membrane-bound dipeptidase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64180 ; - skos:exactMatch HGNC_symbol:DPEP3 ; + skos:exactMatch UMLS:C1427862, + HGNC:23029, + HGNC_symbol:DPEP3 ; biolink:category biolink:Gene . OMIM:609927 a owl:Class ; @@ -272702,7 +283201,6 @@ OMIM:609927 a owl:Class ; PMID:22717650 ; RO:0002525 CHR:9606chr8p22 ; RO:0003303 OMIM:614898 ; - oboInOwl:hasDbXref UMLS:C1835921 ; oboInOwl:hasExactSynonym "VPS37A", "hepatocellular carcinoma-related protein 1", "polyglutamine-binding protein 2", @@ -272710,7 +283208,9 @@ OMIM:609927 a owl:Class ; "vps37a subunit of escrit-i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137492 ; - skos:exactMatch HGNC_symbol:VPS37A ; + skos:exactMatch UMLS:C1835921, + HGNC:24928, + HGNC_symbol:VPS37A ; biolink:category biolink:Gene . OMIM:609928 a owl:Class ; @@ -272718,38 +283218,41 @@ OMIM:609928 a owl:Class ; IAO:0000142 PMID:10819331, PMID:11919279, PMID:19922871 ; - oboInOwl:hasDbXref UMLS:C1423823 ; oboInOwl:hasExactSynonym "MYH7B", "kiaa1512", "myosin heavy chain 14", "myosin, heavy chain 7b, cardiac muscle, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57644 ; - skos:exactMatch HGNC_symbol:MYH7B ; + skos:exactMatch UMLS:C1423823, + HGNC:15906, + HGNC_symbol:MYH7B ; biolink:category biolink:Gene . OMIM:609929 a owl:Class ; rdfs:label "MYH15" ; IAO:0000142 PMID:11919279 ; - oboInOwl:hasDbXref UMLS:C1538029 ; oboInOwl:hasExactSynonym "MYH15", "myosin, heavy chain 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22989 ; - skos:exactMatch HGNC_symbol:MYH15 ; + skos:exactMatch UMLS:C1538029, + HGNC:31073, + HGNC_symbol:MYH15 ; biolink:category biolink:Gene . OMIM:609930 a owl:Class ; rdfs:label "MYL6B" ; IAO:0000142 PMID:2304459, PMID:2602161 ; - oboInOwl:hasDbXref UMLS:C1826331 ; oboInOwl:hasExactSynonym "MYL6B", "myosin, light chain 1, slow, a", "myosin, light chain 6b, alkali, smooth muscle and nonmuscle, slow" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140465 ; - skos:exactMatch HGNC_symbol:MYL6B ; + skos:exactMatch UMLS:C1826331, + HGNC:29823, + HGNC_symbol:MYL6B ; biolink:category biolink:Gene . OMIM:609931 a owl:Class ; @@ -272757,25 +283260,27 @@ OMIM:609931 a owl:Class ; IAO:0000142 PMID:2304459, PMID:2722814, PMID:8188229 ; - oboInOwl:hasDbXref UMLS:C1417551 ; oboInOwl:hasExactSynonym "MYL6", "myosin light chain 6, alkali, smooth muscle and nonmuscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4637 ; - skos:exactMatch HGNC_symbol:MYL6 ; + skos:exactMatch UMLS:C1417551, + HGNC:7587, + HGNC_symbol:MYL6 ; biolink:category biolink:Gene . OMIM:609932 a owl:Class ; rdfs:label "SPACA4" ; IAO:0000142 PMID:12788941, PMID:30190407 ; - oboInOwl:hasDbXref UMLS:C1424282 ; oboInOwl:hasExactSynonym "SPACA4", "sperm acrosomal membrane protein 14", "sperm acrosome-associated protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171169 ; - skos:exactMatch HGNC_symbol:SPACA4 ; + skos:exactMatch UMLS:C1424282, + HGNC:16441, + HGNC_symbol:SPACA4 ; biolink:category biolink:Gene . OMIM:609933 a owl:Class ; @@ -272785,14 +283290,15 @@ OMIM:609933 a owl:Class ; PMID:16931762, PMID:18724361, PMID:21998396 ; - oboInOwl:hasDbXref UMLS:C1538824 ; oboInOwl:hasExactSynonym "REG3G", "pap 1b", "reg 3", "regenerating islet-derived 3-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130120 ; - skos:exactMatch HGNC_symbol:REG3G ; + skos:exactMatch UMLS:C1538824, + HGNC:29595, + HGNC_symbol:REG3G ; biolink:category biolink:Gene . OMIM:609934 a owl:Class ; @@ -272800,38 +283306,41 @@ OMIM:609934 a owl:Class ; IAO:0000142 PMID:12139918, PMID:16326388, PMID:26686553 ; - oboInOwl:hasDbXref UMLS:C1426006 ; oboInOwl:hasExactSynonym "EBF2", "early b-cell factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64641 ; - skos:exactMatch HGNC_symbol:EBF2 ; + skos:exactMatch UMLS:C1426006, + HGNC:19090, + HGNC_symbol:EBF2 ; biolink:category biolink:Gene . OMIM:609935 a owl:Class ; rdfs:label "EBF4" ; IAO:0000142 PMID:10718198, PMID:12139918 ; - oboInOwl:hasDbXref UMLS:C1835920 ; oboInOwl:hasExactSynonym "EBF4", "early b-cell factor 4", "kiaa1442" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57593 ; - skos:exactMatch HGNC_symbol:EBF4 ; + skos:exactMatch UMLS:C1835920, + HGNC:29278, + HGNC_symbol:EBF4 ; biolink:category biolink:Gene . OMIM:609936 a owl:Class ; rdfs:label "SPIN1" ; IAO:0000142 PMID:16098913, PMID:9053325 ; - oboInOwl:hasDbXref UMLS:C1823107 ; oboInOwl:hasExactSynonym "SPIN1", "spindlin", "spindlin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10927 ; - skos:exactMatch HGNC_symbol:SPIN1 ; + skos:exactMatch UMLS:C1823107, + HGNC:11243, + HGNC_symbol:SPIN1 ; biolink:category biolink:Gene . OMIM:609937 a owl:Class ; @@ -272847,19 +283356,19 @@ OMIM:609937 a owl:Class ; PMID:30307408 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:616910 ; - oboInOwl:hasDbXref UMLS:C1422800 ; oboInOwl:hasExactSynonym "CDCA7", "cell division cycle-associated protein 7", "jpo1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83879 ; - skos:exactMatch HGNC_symbol:CDCA7 ; + skos:exactMatch UMLS:C1422800, + HGNC:14628, + HGNC_symbol:CDCA7 ; biolink:category biolink:Gene . OMIM:609938 a owl:Class ; rdfs:label "CADM2" ; IAO:0000142 PMID:16311015 ; - oboInOwl:hasDbXref UMLS:C1428899 ; oboInOwl:hasExactSynonym "CADM2", "cell adhesion molecule 2", "immunoglobulin superfamily, member 4d", @@ -272867,7 +283376,9 @@ OMIM:609938 a owl:Class ; "synaptic cell adhesion molecule 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253559 ; - skos:exactMatch HGNC_symbol:CADM2 ; + skos:exactMatch UMLS:C1428899, + HGNC:29849, + HGNC_symbol:CADM2 ; biolink:category biolink:Gene . OMIM:609939 a owl:Class ; @@ -272885,9 +283396,9 @@ OMIM:609939 a owl:Class ; PMID:19838195, PMID:9843983 ; RO:0002525 CHR:9606chr16p12.3-q12.2 ; - oboInOwl:hasDbXref UMLS:C1835919 ; oboInOwl:hasExactSynonym "SLEB6", "systemic lupus erythematosus, susceptibility to, 6" ; + skos:exactMatch UMLS:C1835919 ; biolink:category biolink:Disease . OMIM:609940 a owl:Class ; @@ -272900,11 +283411,11 @@ OMIM:609942 a owl:Class ; PMID:16474404, PMID:16474405, PMID:19396835 ; - oboInOwl:hasDbXref UMLS:C1860991, - ORPHA:648 ; oboInOwl:hasExactSynonym "NS3", "noonan syndrome 3" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C1860991, + ORPHA:648 ; biolink:category biolink:Disease . OMIM:609943 a owl:Class ; @@ -272914,8 +283425,8 @@ OMIM:609943 a owl:Class ; OMIM:609944 a owl:Class ; rdfs:label "ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features" ; IAO:0000142 PMID:15057121 ; - oboInOwl:hasDbXref UMLS:C1864966 ; - oboInOwl:hasExactSynonym "ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features" . + oboInOwl:hasExactSynonym "ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features" ; + skos:exactMatch UMLS:C1864966 . OMIM:609945 a owl:Class ; rdfs:label "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" ; @@ -272924,8 +283435,8 @@ OMIM:609945 a owl:Class ; PMID:15057119, PMID:19533791, PMID:9134290 ; - oboInOwl:hasDbXref UMLS:C1864965 ; - oboInOwl:hasExactSynonym "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" . + oboInOwl:hasExactSynonym "brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" ; + skos:exactMatch UMLS:C1864965 . OMIM:609947 a owl:Class ; rdfs:label "PRORP" ; @@ -272935,14 +283446,15 @@ OMIM:609947 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr14q13.2 ; RO:0003303 OMIM:619737 ; - oboInOwl:hasDbXref UMLS:C1426560 ; oboInOwl:hasExactSynonym "PRORP", "kiaa0391 gene", "mitochondrial ribonuclease p protein 3", "protein only rnase p catalytic subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9692 ; - skos:exactMatch HGNC_symbol:PRORP ; + skos:exactMatch UMLS:C1426560, + HGNC:19958, + HGNC_symbol:PRORP ; biolink:category biolink:Gene . OMIM:609948 a owl:Class ; @@ -272955,14 +283467,15 @@ OMIM:609948 a owl:Class ; PMID:25841028 ; RO:0002525 CHR:9606chr7p22.1 ; RO:0003303 OMIM:212840 ; - oboInOwl:hasDbXref UMLS:C1864963 ; oboInOwl:hasExactSynonym "RNF216", "ring finger protein 216", "triad domain-containing protein 3", "zinc finger protein inhibiting nfkb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54476 ; - skos:exactMatch HGNC_symbol:RNF216 ; + skos:exactMatch UMLS:C1864963, + HGNC:21698, + HGNC_symbol:RNF216 ; biolink:category biolink:Gene . OMIM:609949 a owl:Class ; @@ -272978,14 +283491,15 @@ OMIM:609949 a owl:Class ; PMID:18454156, PMID:24043888, PMID:27313051 ; - oboInOwl:hasDbXref UMLS:C1415258 ; oboInOwl:hasExactSynonym "C5AR2", "c5l2", "complement component 5a receptor 2", "g protein-coupled receptor 77" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27202 ; - skos:exactMatch HGNC_symbol:C5AR2 ; + skos:exactMatch UMLS:C1415258, + HGNC:4527, + HGNC_symbol:C5AR2 ; biolink:category biolink:Gene . OMIM:609950 a owl:Class ; @@ -272993,13 +283507,14 @@ OMIM:609950 a owl:Class ; IAO:0000142 PMID:11724819, PMID:11853319, PMID:14633994 ; - oboInOwl:hasDbXref UMLS:C1826769 ; oboInOwl:hasExactSynonym "RAVER1", "raver1, mouse, homolog of kiaa1978", "ribonucleoprotein, ptb-binding 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125950 ; - skos:exactMatch HGNC_symbol:RAVER1 ; + skos:exactMatch UMLS:C1826769, + HGNC:30296, + HGNC_symbol:RAVER1 ; biolink:category biolink:Gene . OMIM:609951 a owl:Class ; @@ -273011,7 +283526,6 @@ OMIM:609951 a owl:Class ; PMID:15781586, PMID:30209392, PMID:9225980 ; - oboInOwl:hasDbXref UMLS:C1420834 ; oboInOwl:hasExactSynonym "ZNF384", "cagh1", "cas-interacting zinc finger protein", @@ -273019,38 +283533,41 @@ OMIM:609951 a owl:Class ; "zinc finger protein 384" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171017 ; - skos:exactMatch HGNC_symbol:ZNF384 ; + skos:exactMatch UMLS:C1420834, + HGNC:11955, + HGNC_symbol:ZNF384 ; biolink:category biolink:Gene . OMIM:609953 a owl:Class ; rdfs:label "RAVER2" ; IAO:0000142 PMID:10997877, PMID:16051233 ; - oboInOwl:hasDbXref UMLS:C1826770 ; oboInOwl:hasExactSynonym "RAVER2", "raver2, mouse, homolog of kiaa1579", "ribonucleoprotein, ptb-binding 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55225 ; - skos:exactMatch HGNC_symbol:RAVER2 ; + skos:exactMatch UMLS:C1826770, + HGNC:25577, + HGNC_symbol:RAVER2 ; biolink:category biolink:Gene . OMIM:609956 a owl:Class ; rdfs:label "RAB37" ; IAO:0000142 PMID:10722846, PMID:19148500 ; - oboInOwl:hasDbXref UMLS:C1428951 ; oboInOwl:hasExactSynonym "RAB37", "ras-associated protein rab37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:326624 ; - skos:exactMatch HGNC_symbol:RAB37 ; + skos:exactMatch UMLS:C1428951, + HGNC:30268, + HGNC_symbol:RAB37 ; biolink:category biolink:Gene . OMIM:609957 a owl:Class ; rdfs:label "PPM1J" ; IAO:0000142 PMID:12633878 ; - oboInOwl:hasDbXref UMLS:C1538709 ; oboInOwl:hasExactSynonym "PPM1J", "ppp2cz", "protein phosphatase 2c, zeta isoform", @@ -273058,25 +283575,27 @@ OMIM:609957 a owl:Class ; "protein phosphatase, magnesium/manganese-dependent, 1j" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:333926 ; - skos:exactMatch HGNC_symbol:PPM1J ; + skos:exactMatch UMLS:C1538709, + HGNC:20785, + HGNC_symbol:PPM1J ; biolink:category biolink:Gene . OMIM:609959 a owl:Class ; rdfs:label "MYADM" ; IAO:0000142 PMID:10733104 ; - oboInOwl:hasDbXref UMLS:C1417520 ; oboInOwl:hasExactSynonym "MYADM", "myeloid-associated differentiation marker" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91663 ; - skos:exactMatch HGNC_symbol:MYADM ; + skos:exactMatch UMLS:C1417520, + HGNC:7544, + HGNC_symbol:MYADM ; biolink:category biolink:Gene . OMIM:609960 a owl:Class ; rdfs:label "PUM3" ; IAO:0000142 PMID:11148223, PMID:7584026 ; - oboInOwl:hasDbXref UMLS:C1428887 ; oboInOwl:hasExactSynonym "PUM3", "hla-ha8", "kiaa0020", @@ -273084,19 +283603,22 @@ OMIM:609960 a owl:Class ; "pumilio rna-binding family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9933 ; - skos:exactMatch HGNC_symbol:PUM3 ; + skos:exactMatch UMLS:C1428887, + HGNC:29676, + HGNC_symbol:PUM3 ; biolink:category biolink:Gene . OMIM:609961 a owl:Class ; rdfs:label "HMHB1" ; IAO:0000142 PMID:9892612 ; - oboInOwl:hasDbXref UMLS:C1825517 ; oboInOwl:hasExactSynonym "HMHB1", "hla-hb1", "minor histocompatibility antigen hb-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57824 ; - skos:exactMatch HGNC_symbol:HMHB1 ; + skos:exactMatch UMLS:C1825517, + HGNC:29677, + HGNC_symbol:HMHB1 ; biolink:category biolink:Gene . OMIM:609962 a owl:Class ; @@ -273107,26 +283629,28 @@ OMIM:609962 a owl:Class ; PMID:23602766, PMID:24733387, PMID:27049944 ; - oboInOwl:hasDbXref UMLS:C1539096 ; oboInOwl:hasExactSynonym "CLEC4E", "c-type lectin domain family 4, member e", "macrophage-inducible c-type lectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26253 ; - skos:exactMatch HGNC_symbol:CLEC4E ; + skos:exactMatch UMLS:C1539096, + HGNC:14555, + HGNC_symbol:CLEC4E ; biolink:category biolink:Gene . OMIM:609963 a owl:Class ; rdfs:label "CHSY3" ; IAO:0000142 PMID:12907687 ; - oboInOwl:hasDbXref UMLS:C1864958 ; oboInOwl:hasExactSynonym "CHSY3", "carbohydrate synthase 2", "chondroitin sulfate synthase 3", "css3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:337876 ; - skos:exactMatch HGNC_symbol:CHSY3 ; + skos:exactMatch UMLS:C1864958, + HGNC:24293, + HGNC_symbol:CHSY3 ; biolink:category biolink:Gene . OMIM:609964 a owl:Class ; @@ -273134,7 +283658,6 @@ OMIM:609964 a owl:Class ; IAO:0000142 PMID:14971047, PMID:23602766, PMID:23911656 ; - oboInOwl:hasDbXref UMLS:C1539095 ; oboInOwl:hasExactSynonym "CLEC4D", "c-type lectin domain family 4, member d", "clec6", @@ -273143,7 +283666,9 @@ OMIM:609964 a owl:Class ; "macrophage c-type lectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338339 ; - skos:exactMatch HGNC_symbol:CLEC4D ; + skos:exactMatch UMLS:C1539095, + HGNC:14554, + HGNC_symbol:CLEC4D ; biolink:category biolink:Gene . OMIM:609966 a owl:Class ; @@ -273151,33 +283676,35 @@ OMIM:609966 a owl:Class ; IAO:0000142 PMID:12574169 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:619826 ; - oboInOwl:hasDbXref UMLS:C1425840 ; oboInOwl:hasExactSynonym "GGN", "gametogenetin", "gametogenetin, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199720 ; - skos:exactMatch HGNC_symbol:GGN ; + skos:exactMatch UMLS:C1425840, + HGNC:18869, + HGNC_symbol:GGN ; biolink:category biolink:Gene . OMIM:609967 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12886250 ; - oboInOwl:hasDbXref UMLS:C1825277 ; oboInOwl:hasExactSynonym "b-cell novel protein 1", "bcnp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199786 ; - skos:exactMatch HGNC_symbol:NIBAN3 ; + skos:exactMatch UMLS:C1825277, + HGNC:24130, + HGNC_symbol:NIBAN3 ; biolink:category biolink:Gene . OMIM:609968 a owl:Class ; rdfs:label "hyperinsulinemic hypoglycemia, familial, 5" ; IAO:0000142 PMID:15161766 ; - oboInOwl:hasDbXref UMLS:C1864952 ; oboInOwl:hasExactSynonym "HHF5", "hyperinsulinemic hypoglycemia, familial, 5" ; rdfs:subClassOf OMIMPS:256450 ; + skos:exactMatch UMLS:C1864952 ; biolink:category biolink:Disease . OMIM:609969 a owl:Class ; @@ -273185,36 +283712,39 @@ OMIM:609969 a owl:Class ; IAO:0000142 PMID:12228223, PMID:15234001, PMID:24794495 ; - oboInOwl:hasDbXref UMLS:C1822617 ; oboInOwl:hasExactSynonym "sbsn", "suprabasin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374897 ; - skos:exactMatch HGNC_symbol:SBSN ; + skos:exactMatch UMLS:C1822617, + HGNC:24950, + HGNC_symbol:SBSN ; biolink:category biolink:Gene . OMIM:609970 a owl:Class ; rdfs:label "HES2" ; IAO:0000142 PMID:15254753 ; - oboInOwl:hasDbXref UMLS:C1539666 ; oboInOwl:hasExactSynonym "HES2", "hairy/enhancer of split, drosophila, homolog of, 2", "hes family bhlh transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54626 ; - skos:exactMatch HGNC_symbol:HES2 ; + skos:exactMatch UMLS:C1539666, + HGNC:16005, + HGNC_symbol:HES2 ; biolink:category biolink:Gene . OMIM:609971 a owl:Class ; rdfs:label "HES3" ; IAO:0000142 PMID:15254753 ; - oboInOwl:hasDbXref UMLS:C1825461 ; oboInOwl:hasExactSynonym "HES3", "hairy/enhancer of split, drosophila, homolog of, 3", "hes family bhlh transcription factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390992 ; - skos:exactMatch HGNC_symbol:HES3 ; + skos:exactMatch UMLS:C1825461, + HGNC:26226, + HGNC_symbol:HES3 ; biolink:category biolink:Gene . OMIM:609972 a owl:Class ; @@ -273223,7 +283753,6 @@ OMIM:609972 a owl:Class ; PMID:15007068, PMID:16103133, PMID:16940157 ; - oboInOwl:hasDbXref UMLS:C1825828 ; oboInOwl:hasExactSynonym "ACOT2", "acyl-coa thioesterase 2", "mte1", @@ -273231,7 +283760,9 @@ OMIM:609972 a owl:Class ; "pte1a, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10965 ; - skos:exactMatch HGNC_symbol:ACOT2 ; + skos:exactMatch UMLS:C1825828, + HGNC:18431, + HGNC_symbol:ACOT2 ; biolink:category biolink:Gene . OMIM:609973 a owl:Class ; @@ -273239,13 +283770,14 @@ OMIM:609973 a owl:Class ; IAO:0000142 PMID:10819331, PMID:16043489, PMID:23382386 ; - oboInOwl:hasDbXref UMLS:C1426072 ; oboInOwl:hasExactSynonym "HCN3", "hyperpolarization-activated cyclic nucleotide-gated potassium channel 3", "kiaa1535" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57657 ; - skos:exactMatch HGNC_symbol:HCN3 ; + skos:exactMatch UMLS:C1426072, + HGNC:19183, + HGNC_symbol:HCN3 ; biolink:category biolink:Gene . OMIM:609974 a owl:Class ; @@ -273253,13 +283785,14 @@ OMIM:609974 a owl:Class ; IAO:0000142 PMID:10835267, PMID:10861224, PMID:2059658 ; - oboInOwl:hasDbXref UMLS:C1413283 ; oboInOwl:hasExactSynonym "CDH9", "cadherin 9", "t1-cadherin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1007 ; - skos:exactMatch HGNC_symbol:CDH9 ; + skos:exactMatch UMLS:C1413283, + HGNC:1768, + HGNC_symbol:CDH9 ; biolink:category biolink:Gene . OMIM:609976 a owl:Class ; @@ -273268,14 +283801,15 @@ OMIM:609976 a owl:Class ; PMID:11734856, PMID:12538644, PMID:16126907 ; - oboInOwl:hasDbXref UMLS:C1423757 ; oboInOwl:hasExactSynonym "HIF3A", "hif3-alpha", "hypoxia-inducible factor 3, alpha subunit", "inhibitory pas domain protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64344 ; - skos:exactMatch HGNC_symbol:HIF3A ; + skos:exactMatch UMLS:C1423757, + HGNC:15825, + HGNC_symbol:HIF3A ; biolink:category biolink:Gene . OMIM:609977 a owl:Class ; @@ -273283,14 +283817,15 @@ OMIM:609977 a owl:Class ; IAO:0000142 PMID:15249581, PMID:15260989, PMID:20739936 ; - oboInOwl:hasDbXref UMLS:C1422801 ; oboInOwl:hasExactSynonym "CDCA8", "borealin", "cell division cycle-associated protein 8", "dasra B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55143 ; - skos:exactMatch HGNC_symbol:CDCA8 ; + skos:exactMatch UMLS:C1422801, + HGNC:14629, + HGNC_symbol:CDCA8 ; biolink:category biolink:Gene . OMIM:609978 a owl:Class ; @@ -273299,39 +283834,42 @@ OMIM:609978 a owl:Class ; PMID:12659812, PMID:17380209, PMID:20448178 ; - oboInOwl:hasDbXref UMLS:C1423913 ; oboInOwl:hasExactSynonym "CADPS2", "calcium-dependent activator protein for secretion 2", "kiaa1591" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93664 ; - skos:exactMatch HGNC_symbol:CADPS2 ; + skos:exactMatch UMLS:C1423913, + HGNC:16018, + HGNC_symbol:CADPS2 ; biolink:category biolink:Gene . OMIM:609979 a owl:Class ; rdfs:label "VGLL2" ; IAO:0000142 PMID:12376544, PMID:14762206 ; - oboInOwl:hasDbXref UMLS:C1426795 ; oboInOwl:hasExactSynonym "VGLL2", "vestigial- and tondu-related protein 1", "vestigial-like 2", "vgl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245806 ; - skos:exactMatch HGNC_symbol:VGLL2 ; + skos:exactMatch UMLS:C1426795, + HGNC:20232, + HGNC_symbol:VGLL2 ; biolink:category biolink:Gene . OMIM:609980 a owl:Class ; rdfs:label "VGLL3" ; IAO:0000142 PMID:12376544 ; - oboInOwl:hasDbXref UMLS:C1823631 ; oboInOwl:hasExactSynonym "VGLL3", "vestigial-like 3", "vgl3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389136 ; - skos:exactMatch HGNC_symbol:VGLL3 ; + skos:exactMatch UMLS:C1823631, + HGNC:24327, + HGNC_symbol:VGLL3 ; biolink:category biolink:Gene . OMIM:609982 a owl:Class ; @@ -273348,14 +283886,15 @@ OMIM:609982 a owl:Class ; PMID:26040712 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:619273 ; - oboInOwl:hasDbXref UMLS:C1422018 ; oboInOwl:hasExactSynonym "VPS4A", "vacuolar protein sorting 4 homolog a", "vacuolar protein sorting 4, yeast, homolog of, a", "vps4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27183 ; - skos:exactMatch HGNC_symbol:VPS4A ; + skos:exactMatch UMLS:C1422018, + HGNC:13488, + HGNC_symbol:VPS4A ; biolink:category biolink:Gene . OMIM:609983 a owl:Class ; @@ -273368,39 +283907,42 @@ OMIM:609983 a owl:Class ; PMID:19129479, PMID:23542590, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1420080 ; oboInOwl:hasExactSynonym "VPS4B", "skd1, mouse, homolog of", "vacuolar protein sorting 4 homolog B", "vacuolar protein sorting 4, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9525 ; - skos:exactMatch HGNC_symbol:VPS4B ; + skos:exactMatch UMLS:C1420080, + HGNC:10895, + HGNC_symbol:VPS4B ; biolink:category biolink:Gene . OMIM:609984 a owl:Class ; rdfs:label "ZWILCH" ; IAO:0000142 PMID:12686595 ; - oboInOwl:hasDbXref UMLS:C1824085 ; oboInOwl:hasExactSynonym "ZWILCH", "zwilch kinetochore protein", "zwilch, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55055 ; - skos:exactMatch HGNC_symbol:ZWILCH ; + skos:exactMatch UMLS:C1824085, + HGNC:25468, + HGNC_symbol:ZWILCH ; biolink:category biolink:Gene . OMIM:609986 a owl:Class ; rdfs:label "CARD6" ; IAO:0000142 PMID:12775719, PMID:16418290 ; - oboInOwl:hasDbXref UMLS:C1424245 ; oboInOwl:hasExactSynonym "CARD6", "card-containing inhibitor of nod1- and cardiak-induced nfkb activation 1", "caspase recruitment domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84674 ; - skos:exactMatch HGNC_symbol:CARD6 ; + skos:exactMatch UMLS:C1424245, + HGNC:16394, + HGNC_symbol:CARD6 ; biolink:category biolink:Gene . OMIM:609987 a owl:Class ; @@ -273408,12 +283950,13 @@ OMIM:609987 a owl:Class ; IAO:0000142 PMID:12489526, PMID:16461896, PMID:18799751 ; - oboInOwl:hasDbXref UMLS:C1823137 ; oboInOwl:hasExactSynonym "STRA8", "stimulated by retinoic acid 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:346673 ; - skos:exactMatch HGNC_symbol:STRA8 ; + skos:exactMatch UMLS:C1823137, + HGNC:30653, + HGNC_symbol:STRA8 ; biolink:category biolink:Gene . OMIM:609988 a owl:Class ; @@ -273423,21 +283966,22 @@ OMIM:609988 a owl:Class ; PMID:27523598 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:617222 ; - oboInOwl:hasDbXref UMLS:C1826647 ; oboInOwl:hasExactSynonym "PPA2", "pyrophosphatase, inorganic, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27068 ; - skos:exactMatch HGNC_symbol:PPA2 ; + skos:exactMatch UMLS:C1826647, + HGNC:28883, + HGNC_symbol:PPA2 ; biolink:category biolink:Gene . OMIM:609989 a owl:Class ; rdfs:label "metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands" ; IAO:0000142 PMID:14679588, PMID:7754130 ; - oboInOwl:hasDbXref UMLS:C1864944 ; oboInOwl:hasExactSynonym "cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly", "metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands" ; + skos:exactMatch UMLS:C1864944 ; biolink:category biolink:Disease . OMIM:609990 a owl:Class ; @@ -273445,93 +283989,99 @@ OMIM:609990 a owl:Class ; IAO:0000142 PMID:5930398, PMID:6543849, PMID:7330659 ; - oboInOwl:hasDbXref UMLS:C1864943 ; oboInOwl:hasExactSynonym "cupped metaphyses and cone-shaped epiphyses with alopecia", "metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia", "metaphyseal chondrodysplasia with ectodermal dysplasia", "trichoscyphodysplasia" ; + skos:exactMatch UMLS:C1864943 ; biolink:category biolink:Disease . OMIM:609991 a owl:Class ; rdfs:label "FNDC1" ; IAO:0000142 PMID:11347906, PMID:16407149 ; - oboInOwl:hasDbXref UMLS:C1427396 ; oboInOwl:hasExactSynonym "FNDC1", "activator of g protein signaling 8", "fibronectin iia 3 domain-containing protein 1", "kiaa1866" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84624 ; - skos:exactMatch HGNC_symbol:FNDC1 ; + skos:exactMatch UMLS:C1427396, + HGNC:21184, + HGNC_symbol:FNDC1 ; biolink:category biolink:Gene . OMIM:609992 a owl:Class ; rdfs:label "POP5" ; IAO:0000142 PMID:11042152, PMID:11413139 ; - oboInOwl:hasDbXref UMLS:C1425038 ; oboInOwl:hasExactSynonym "POP5", "hspc004", "pop5 homolog, ribonuclease p/mrp subunit", "processing of precursor 5, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51367 ; - skos:exactMatch HGNC_symbol:POP5 ; + skos:exactMatch UMLS:C1425038, + HGNC:17689, + HGNC_symbol:POP5 ; biolink:category biolink:Gene . OMIM:609993 a owl:Class ; rdfs:label "osteosclerosis with ichthyosis and premature ovarian failure" ; IAO:0000142 PMID:15995452 ; - oboInOwl:hasDbXref UMLS:C1864942 ; oboInOwl:hasExactSynonym "osteosclerosis with ichthyosis and premature ovarian failure", "sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" ; + skos:exactMatch UMLS:C1864942 ; biolink:category biolink:Disease . OMIM:609996 a owl:Class ; rdfs:label "COL28A1" ; IAO:0000142 PMID:16330543 ; - oboInOwl:hasDbXref UMLS:C1824774 ; oboInOwl:hasExactSynonym "COL28A1", "collagen, iia xxviii, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340267 ; - skos:exactMatch HGNC_symbol:COL28A1 ; + skos:exactMatch UMLS:C1824774, + HGNC:22442, + HGNC_symbol:COL28A1 ; biolink:category biolink:Gene . OMIM:609997 a owl:Class ; rdfs:label "HINT2" ; IAO:0000142 PMID:12119013 ; - oboInOwl:hasDbXref UMLS:C1425462 ; oboInOwl:hasExactSynonym "HINT2", "histidine triad nucleotide-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84681 ; - skos:exactMatch HGNC_symbol:HINT2 ; + skos:exactMatch UMLS:C1425462, + HGNC:18344, + HGNC_symbol:HINT2 ; biolink:category biolink:Gene . OMIM:609998 a owl:Class ; rdfs:label "HINT3" ; IAO:0000142 PMID:12119013 ; - oboInOwl:hasDbXref UMLS:C1425533 ; oboInOwl:hasExactSynonym "HINT3", "histidine triad nucleotide-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135114 ; - skos:exactMatch HGNC_symbol:HINT3 ; + skos:exactMatch UMLS:C1425533, + HGNC:18468, + HGNC_symbol:HINT3 ; biolink:category biolink:Gene . OMIM:609999 a owl:Class ; rdfs:label "SYNDIG1L" ; IAO:0000142 PMID:16359841 ; - oboInOwl:hasDbXref UMLS:C1823352 ; oboInOwl:hasExactSynonym "SYNDIG1L", "caudate- and putamen-enriched gene", "synapse differentiation-induced gene 1-like", "transmembrane protein 90a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:646658 ; - skos:exactMatch HGNC_symbol:SYNDIG1L ; + skos:exactMatch UMLS:C1823352, + HGNC:32388, + HGNC_symbol:SYNDIG1L ; biolink:category biolink:Gene . OMIM:610000 a owl:Class ; @@ -273546,31 +284096,33 @@ OMIM:610000 a owl:Class ; PMID:28295209 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:236500 ; - oboInOwl:hasDbXref UMLS:C1824709 ; oboInOwl:hasExactSynonym "CEP55", "centrosomal protein, 55-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55165 ; - skos:exactMatch HGNC_symbol:CEP55 ; + skos:exactMatch UMLS:C1824709, + HGNC:1161, + HGNC_symbol:CEP55 ; biolink:category biolink:Gene . OMIM:610001 a owl:Class ; rdfs:label "arthrogryposis multiplex with deafness, inguinal hernias, and early death" ; IAO:0000142 PMID:16059941 ; - oboInOwl:hasDbXref UMLS:C1864939 ; - oboInOwl:hasExactSynonym "arthrogryposis multiplex with deafness, inguinal hernias, and early death" . + oboInOwl:hasExactSynonym "arthrogryposis multiplex with deafness, inguinal hernias, and early death" ; + skos:exactMatch UMLS:C1864939 . OMIM:610002 a owl:Class ; rdfs:label "COL21A1" ; IAO:0000142 PMID:11566190, PMID:11827793, PMID:11863369 ; - oboInOwl:hasDbXref UMLS:C1424695 ; oboInOwl:hasExactSynonym "COL21A1", "collagen, iia xxi, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81578 ; - skos:exactMatch HGNC_symbol:COL21A1 ; + skos:exactMatch UMLS:C1424695, + HGNC:17025, + HGNC_symbol:COL21A1 ; biolink:category biolink:Gene . OMIM:610004 a owl:Class ; @@ -273582,8 +284134,6 @@ OMIM:610004 a owl:Class ; PMID:25500261 ; RO:0002525 CHR:9606chr4q25 ; RO:0003303 OMIM:616219 ; - oboInOwl:hasDbXref UMLS:C1425641, - UMLS:C1864922 ; oboInOwl:hasExactSynonym "COL25A1", "clac precursor", "collagen, iia xxv, alpha-1", @@ -273591,7 +284141,10 @@ OMIM:610004 a owl:Class ; "collagen-like alzheimer amyloid plaque component precursor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84570 ; - skos:exactMatch HGNC_symbol:COL25A1 ; + skos:exactMatch UMLS:C1425641, + UMLS:C1864922, + HGNC:18603, + HGNC_symbol:COL25A1 ; biolink:category biolink:Gene . OMIM:610005 a owl:Class ; @@ -273604,13 +284157,14 @@ OMIM:610005 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr3q26.2-q26.31 ; RO:0003303 OMIM:617028 ; - oboInOwl:hasDbXref UMLS:C1428997 ; oboInOwl:hasExactSynonym "TNIK", "kiaa0551", "traf2- and nck-interacting kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23043 ; - skos:exactMatch HGNC_symbol:TNIK ; + skos:exactMatch UMLS:C1428997, + HGNC:30765, + HGNC_symbol:TNIK ; biolink:category biolink:Gene . OMIM:610007 a owl:Class ; @@ -273620,14 +284174,15 @@ OMIM:610007 a owl:Class ; PMID:12591932, PMID:28393844, PMID:31073040 ; - oboInOwl:hasDbXref UMLS:C1825863 ; oboInOwl:hasExactSynonym "LMBR1L", "kiaa1174", "limb region 1 homolog-like", "lipocalin-interacting membrane receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55716 ; - skos:exactMatch HGNC_symbol:LMBR1L ; + skos:exactMatch UMLS:C1825863, + HGNC:18268, + HGNC_symbol:LMBR1L ; biolink:category biolink:Gene . OMIM:610008 a owl:Class ; @@ -273644,13 +284199,14 @@ OMIM:610008 a owl:Class ; PMID:29300381 ; RO:0002525 CHR:9606chr17q24.2 ; RO:0003303 OMIM:618144 ; - oboInOwl:hasDbXref UMLS:C1825082 ; oboInOwl:hasExactSynonym "ARSG", "arylsulfatase g", "kiaa1001" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22901 ; - skos:exactMatch HGNC_symbol:ARSG ; + skos:exactMatch UMLS:C1825082, + HGNC:24102, + HGNC_symbol:ARSG ; biolink:category biolink:Gene . OMIM:610009 a owl:Class ; @@ -273658,24 +284214,26 @@ OMIM:610009 a owl:Class ; IAO:0000142 PMID:16174644, PMID:16500042, PMID:24482476 ; - oboInOwl:hasDbXref UMLS:C1825084 ; oboInOwl:hasExactSynonym "ARSI", "arylsulfatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340075 ; - skos:exactMatch HGNC_symbol:ARSI ; + skos:exactMatch UMLS:C1825084, + HGNC:32521, + HGNC_symbol:ARSI ; biolink:category biolink:Gene . OMIM:610010 a owl:Class ; rdfs:label "ARSJ" ; IAO:0000142 PMID:16174644, PMID:16500042 ; - oboInOwl:hasDbXref UMLS:C1825085 ; oboInOwl:hasExactSynonym "ARSJ", "arylsulfatase j" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79642 ; - skos:exactMatch HGNC_symbol:ARSJ ; + skos:exactMatch UMLS:C1825085, + HGNC:26286, + HGNC_symbol:ARSJ ; biolink:category biolink:Gene . OMIM:610011 a owl:Class ; @@ -273685,12 +284243,13 @@ OMIM:610011 a owl:Class ; PMID:23986440 ; RO:0002525 CHR:9606chr5q15 ; RO:0003303 OMIM:619698 ; - oboInOwl:hasDbXref UMLS:C1825086 ; oboInOwl:hasExactSynonym "ARSK", "arylsulfatase k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153642 ; - skos:exactMatch HGNC_symbol:ARSK ; + skos:exactMatch UMLS:C1825086, + HGNC:25239, + HGNC_symbol:ARSK ; biolink:category biolink:Gene . OMIM:610012 a owl:Class ; @@ -273704,13 +284263,14 @@ OMIM:610012 a owl:Class ; PMID:7717419, PMID:7735504, PMID:9856555 ; - oboInOwl:hasDbXref UMLS:C1426908 ; oboInOwl:hasExactSynonym "SULF1", "kiaa1077", "sulfatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23213 ; - skos:exactMatch HGNC_symbol:SULF1 ; + skos:exactMatch UMLS:C1426908, + HGNC:20391, + HGNC_symbol:SULF1 ; biolink:category biolink:Gene . OMIM:610013 a owl:Class ; @@ -273718,25 +284278,27 @@ OMIM:610013 a owl:Class ; IAO:0000142 PMID:10574462, PMID:12368295, PMID:16192265 ; - oboInOwl:hasDbXref UMLS:C1426909 ; oboInOwl:hasExactSynonym "SULF2", "kiaa1247", "sulfatase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55959 ; - skos:exactMatch HGNC_symbol:SULF2 ; + skos:exactMatch UMLS:C1426909, + HGNC:20392, + HGNC_symbol:SULF2 ; biolink:category biolink:Gene . OMIM:610014 a owl:Class ; rdfs:label "TM2D3" ; IAO:0000142 PMID:11278849 ; - oboInOwl:hasDbXref UMLS:C1864911 ; oboInOwl:hasExactSynonym "TM2D3", "bbp-like protein 2", "tm2 domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80213 ; - skos:exactMatch HGNC_symbol:TM2D3 ; + skos:exactMatch UMLS:C1864911, + HGNC:24128, + HGNC_symbol:TM2D3 ; biolink:category biolink:Gene . OMIM:610016 a owl:Class ; @@ -273750,7 +284312,6 @@ OMIM:610016 a owl:Class ; PMID:22895706, PMID:25070796, PMID:25070797 ; - oboInOwl:hasDbXref UMLS:C1537781 ; oboInOwl:hasExactSynonym "MIR132", "micro RNA 132", "micro RNA 132*", @@ -273760,43 +284321,47 @@ OMIM:610016 a owl:Class ; "mirna132" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406921 ; - skos:exactMatch HGNC_symbol:MIR132 ; + skos:exactMatch UMLS:C1537781, + HGNC:31516, + HGNC_symbol:MIR132 ; biolink:category biolink:Gene . OMIM:610017 a owl:Class ; rdfs:label "multiple synostoses syndrome 2" ; IAO:0000142 PMID:16532400 ; - oboInOwl:hasDbXref UMLS:C1832708, - ORPHA:3237 ; oboInOwl:hasExactSynonym "SYNS2", "multiple synostoses syndrome 2" ; rdfs:subClassOf OMIMPS:186500 ; + skos:exactMatch UMLS:C1832708, + ORPHA:3237 ; biolink:category biolink:Disease . OMIM:610018 a owl:Class ; rdfs:label "ARHGEF40" ; IAO:0000142 PMID:16143467 ; - oboInOwl:hasDbXref UMLS:C1864909 ; oboInOwl:hasExactSynonym "ARHGEF40", "flj10357", "rho guanine nucleotide exchange factor 40", "solo" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55701 ; - skos:exactMatch HGNC_symbol:ARHGEF40 ; + skos:exactMatch UMLS:C1864909, + HGNC:25516, + HGNC_symbol:ARHGEF40 ; biolink:category biolink:Gene . OMIM:610020 a owl:Class ; rdfs:label "TBC1D10A" ; IAO:0000142 PMID:11285285, PMID:16923811 ; - oboInOwl:hasDbXref UMLS:C1539931 ; oboInOwl:hasExactSynonym "TBC1D10A", "epi64", "tbc1 domain family, member 10a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83874 ; - skos:exactMatch HGNC_symbol:TBC1D10A ; + skos:exactMatch UMLS:C1539931, + HGNC:23609, + HGNC_symbol:TBC1D10A ; biolink:category biolink:Gene . OMIM:610021 a owl:Class ; @@ -273806,63 +284371,67 @@ OMIM:610021 a owl:Class ; PMID:1358043, PMID:17701893, PMID:18481946 ; - oboInOwl:hasDbXref UMLS:C1864902, - ORPHA:165991 ; oboInOwl:hasExactSynonym "HHF7", "hyperinsulinemic hypoglycemia, exercise-induced", "hyperinsulinemic hypoglycemia, familial, 7" ; rdfs:subClassOf OMIMPS:256450 ; + skos:exactMatch UMLS:C1864902, + ORPHA:165991 ; biolink:category biolink:Disease . OMIM:610022 a owl:Class ; rdfs:label "MYO5C" ; IAO:0000142 PMID:11870218 ; - oboInOwl:hasDbXref UMLS:C1417567 ; oboInOwl:hasExactSynonym "MYO5C", "myosin 5c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55930 ; - skos:exactMatch HGNC_symbol:MYO5C ; + skos:exactMatch UMLS:C1417567, + HGNC:7604, + HGNC_symbol:MYO5C ; biolink:category biolink:Gene . OMIM:610023 a owl:Class ; rdfs:label "brachydactyly, coloboma, and anterior segment dysgenesis" ; IAO:0000142 PMID:15621880 ; - oboInOwl:hasDbXref UMLS:C1864901 ; - oboInOwl:hasExactSynonym "brachydactyly, coloboma, and anterior segment dysgenesis" . + oboInOwl:hasExactSynonym "brachydactyly, coloboma, and anterior segment dysgenesis" ; + skos:exactMatch UMLS:C1864901 . OMIM:610025 a owl:Class ; rdfs:label "COL24A1" ; IAO:0000142 PMID:12874293 ; - oboInOwl:hasDbXref UMLS:C1427151 ; oboInOwl:hasExactSynonym "COL24A1", "collagen, iia xxiv, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255631 ; - skos:exactMatch HGNC_symbol:COL24A1 ; + skos:exactMatch UMLS:C1427151, + HGNC:20821, + HGNC_symbol:COL24A1 ; biolink:category biolink:Gene . OMIM:610026 a owl:Class ; rdfs:label "COL22A1" ; IAO:0000142 PMID:15016833 ; - oboInOwl:hasDbXref UMLS:C1427840 ; oboInOwl:hasExactSynonym "COL22A1", "collagen, iia xxii, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:169044 ; - skos:exactMatch HGNC_symbol:COL22A1 ; + skos:exactMatch UMLS:C1427840, + HGNC:22989, + HGNC_symbol:COL22A1 ; biolink:category biolink:Gene . OMIM:610027 a owl:Class ; rdfs:label "VPS26B" ; IAO:0000142 PMID:16190980 ; - oboInOwl:hasDbXref UMLS:C1823639 ; oboInOwl:hasExactSynonym "VPS26B", "vacuolar protein sorting 26, yeast, homolog of, B", "vps26 retromer complex component B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112936 ; - skos:exactMatch HGNC_symbol:VPS26B ; + skos:exactMatch UMLS:C1823639, + HGNC:28119, + HGNC_symbol:VPS26B ; biolink:category biolink:Gene . OMIM:610028 a owl:Class ; @@ -273873,7 +284442,6 @@ OMIM:610028 a owl:Class ; PMID:17478423, PMID:19147789, PMID:29500242 ; - oboInOwl:hasDbXref UMLS:C1538589 ; oboInOwl:hasExactSynonym "PARP14", "b-aggressive lymphoma 2", "collaborator of stat6", @@ -273882,7 +284450,9 @@ OMIM:610028 a owl:Class ; "poly(adp-ribose) polymerase family, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54625 ; - skos:exactMatch HGNC_symbol:PARP14 ; + skos:exactMatch UMLS:C1538589, + HGNC:29232, + HGNC_symbol:PARP14 ; biolink:category biolink:Gene . OMIM:610029 a owl:Class ; @@ -273891,23 +284461,25 @@ OMIM:610029 a owl:Class ; PMID:17207767, PMID:17568748, PMID:9781040 ; - oboInOwl:hasDbXref UMLS:C1336932 ; oboInOwl:hasExactSynonym "VDAC3", "voltage-dependent anion channel 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7419 ; - skos:exactMatch HGNC_symbol:VDAC3 ; + skos:exactMatch UMLS:C1336932, + HGNC:12674, + HGNC_symbol:VDAC3 ; biolink:category biolink:Gene . OMIM:610030 a owl:Class ; rdfs:label "VDAC4" ; IAO:0000142 PMID:7517385 ; - oboInOwl:hasDbXref UMLS:C1421443 ; oboInOwl:hasExactSynonym "VDAC4", "voltage-dependent anion channel 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7418 ; - skos:exactMatch HGNC_symbol:VDAC1P4 ; + skos:exactMatch UMLS:C1421443, + HGNC:12675, + HGNC_symbol:VDAC1P4 ; biolink:category biolink:Gene . OMIM:610032 a owl:Class ; @@ -273920,26 +284492,28 @@ OMIM:610032 a owl:Class ; PMID:23667635 ; RO:0002525 CHR:9606chr7q32.1 ; RO:0003303 OMIM:608423 ; - oboInOwl:hasDbXref UMLS:C1424743 ; oboInOwl:hasExactSynonym "TNPO3", "transportin 3", "transportin-sr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23534 ; - skos:exactMatch HGNC_symbol:TNPO3 ; + skos:exactMatch UMLS:C1424743, + HGNC:17103, + HGNC_symbol:TNPO3 ; biolink:category biolink:Gene . OMIM:610033 a owl:Class ; rdfs:label "PEF1" ; IAO:0000142 PMID:10486255, PMID:11278427 ; - oboInOwl:hasDbXref UMLS:C1864891 ; oboInOwl:hasExactSynonym "PEF1", "peflin", "penta-ef-hand domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:553115 ; - skos:exactMatch HGNC_symbol:PEF1 ; + skos:exactMatch UMLS:C1864891, + HGNC:30009, + HGNC_symbol:PEF1 ; biolink:category biolink:Gene . OMIM:610034 a owl:Class ; @@ -273952,14 +284526,15 @@ OMIM:610034 a owl:Class ; PMID:8996080 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:617303 ; - oboInOwl:hasDbXref UMLS:C1425364, - UMLS:C4310627 ; oboInOwl:hasExactSynonym "VPS33A", "vacuolar protein sorting 33, yeast, homolog of, a", "vps33a core subunit of corvet and hops complexes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65082 ; - skos:exactMatch HGNC_symbol:VPS33A ; + skos:exactMatch UMLS:C1425364, + UMLS:C4310627, + HGNC:18179, + HGNC_symbol:VPS33A ; biolink:category biolink:Gene . OMIM:610035 a owl:Class ; @@ -273970,14 +284545,15 @@ OMIM:610035 a owl:Class ; PMID:8996080 ; RO:0002525 CHR:9606chr1q21.2 ; RO:0003303 OMIM:615285 ; - oboInOwl:hasDbXref UMLS:C1823643 ; oboInOwl:hasExactSynonym "VPS45", "vacuolar protein sorting 45 homolog", "vacuolar protein sorting 45, yeast, homolog of", "vacuolar protein sorting 45, yeast, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11311 ; - skos:exactMatch HGNC_symbol:VPS45 ; + skos:exactMatch UMLS:C1823643, + HGNC:14579, + HGNC_symbol:VPS45 ; biolink:category biolink:Gene . OMIM:610036 a owl:Class ; @@ -273989,62 +284565,67 @@ OMIM:610036 a owl:Class ; PMID:27530400 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:248190 ; - oboInOwl:hasDbXref UMLS:C1413468 ; oboInOwl:hasExactSynonym "CLDN19", "claudin 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149461 ; - skos:exactMatch HGNC_symbol:CLDN19 ; + skos:exactMatch UMLS:C1413468, + HGNC:2040, + HGNC_symbol:CLDN19 ; biolink:category biolink:Gene . OMIM:610037 a owl:Class ; rdfs:label "VPS37B" ; IAO:0000142 PMID:15218037 ; - oboInOwl:hasDbXref UMLS:C1823641 ; oboInOwl:hasExactSynonym "VPS37B", "vacuolar protein sorting 37, yeast, homolog of, B", "vps37b subunit of escrt-i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79720 ; - skos:exactMatch HGNC_symbol:VPS37B ; + skos:exactMatch UMLS:C1823641, + HGNC:25754, + HGNC_symbol:VPS37B ; biolink:category biolink:Gene . OMIM:610038 a owl:Class ; rdfs:label "VPS37C" ; IAO:0000142 PMID:15218037, PMID:15509564 ; - oboInOwl:hasDbXref UMLS:C1823642 ; oboInOwl:hasExactSynonym "VPS37C", "vacuolar protein sorting 37, yeast, homolog of, c", "vps37c subunit of escrt-i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55048 ; - skos:exactMatch HGNC_symbol:VPS37C ; + skos:exactMatch UMLS:C1823642, + HGNC:26097, + HGNC_symbol:VPS37C ; biolink:category biolink:Gene . OMIM:610039 a owl:Class ; rdfs:label "VPS37D" ; IAO:0000142 PMID:15218037, PMID:18398435 ; - oboInOwl:hasDbXref UMLS:C1425422 ; oboInOwl:hasExactSynonym "VPS37D", "vacuolar protein sorting 37, yeast, homolog of, d", "vps37d subunit of escrt-i", "williams-beuren syndrome chromosome region 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155382 ; - skos:exactMatch HGNC_symbol:VPS37D ; + skos:exactMatch UMLS:C1425422, + HGNC:18287, + HGNC_symbol:VPS37D ; biolink:category biolink:Gene . OMIM:610040 a owl:Class ; rdfs:label "MYO3B" ; IAO:0000142 PMID:11991710 ; - oboInOwl:hasDbXref UMLS:C1423588 ; oboInOwl:hasExactSynonym "MYO3B", "myosin 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140469 ; - skos:exactMatch HGNC_symbol:MYO3B ; + skos:exactMatch UMLS:C1423588, + HGNC:15576, + HGNC_symbol:MYO3B ; biolink:category biolink:Gene . OMIM:610041 a owl:Class ; @@ -274053,14 +284634,15 @@ OMIM:610041 a owl:Class ; PMID:12050153, PMID:12796489, PMID:15252135 ; - oboInOwl:hasDbXref UMLS:C1425582 ; oboInOwl:hasExactSynonym "NDFIP2", "kiaa1165", "nedd4 family-interacting protein 2", "nedd4 ww domain-binding protein 5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54602 ; - skos:exactMatch HGNC_symbol:NDFIP2 ; + skos:exactMatch UMLS:C1425582, + HGNC:18537, + HGNC_symbol:NDFIP2 ; biolink:category biolink:Gene . OMIM:610042 a owl:Class ; @@ -274070,23 +284652,24 @@ OMIM:610042 a owl:Class ; PMID:16571880, PMID:19896112, PMID:27439707 ; - oboInOwl:hasDbXref UMLS:C2750246, - UMLS:C4552043 ; oboInOwl:hasExactSynonym "PTHSL1", "cdfe syndrome", "cortical dysplasia-focal epilepsy syndrome", "pitt-hopkins-like syndrome 1" ; + skos:exactMatch UMLS:C2750246, + UMLS:C4552043 ; biolink:category biolink:Disease . OMIM:610043 a owl:Class ; rdfs:label "COL23A1" ; IAO:0000142 PMID:12644459 ; - oboInOwl:hasDbXref UMLS:C1427841 ; oboInOwl:hasExactSynonym "COL23A1", "collagen, iia xxiii, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91522 ; - skos:exactMatch HGNC_symbol:COL23A1 ; + skos:exactMatch UMLS:C1427841, + HGNC:22990, + HGNC_symbol:COL23A1 ; biolink:category biolink:Gene . OMIM:610044 a owl:Class ; @@ -274099,14 +284682,15 @@ OMIM:610044 a owl:Class ; PMID:32773162 ; RO:0002525 CHR:9606chr1q31.3 ; RO:0003303 OMIM:617771 ; - oboInOwl:hasDbXref UMLS:C1425837, - UMLS:C4540411 ; oboInOwl:hasExactSynonym "KCNT2", "potassium channel, subfamily t, member 2", "slick" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343450 ; - skos:exactMatch HGNC_symbol:KCNT2 ; + skos:exactMatch UMLS:C1425837, + UMLS:C4540411, + HGNC:18866, + HGNC_symbol:KCNT2 ; biolink:category biolink:Gene . OMIM:610045 a owl:Class ; @@ -274122,14 +284706,15 @@ OMIM:610045 a owl:Class ; PMID:9683595 ; RO:0002525 CHR:9606chr6p22.3 ; RO:0003303 OMIM:271980 ; - oboInOwl:hasDbXref UMLS:C0268631, - UMLS:C1412339 ; oboInOwl:hasExactSynonym "ALDH5A1", "aldehyde dehydrogenase 5 family, member a1", "succinic semialdehyde dehydrogenase, nad(+)-dependent" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7915 ; - skos:exactMatch HGNC_symbol:ALDH5A1 ; + skos:exactMatch UMLS:C0268631, + UMLS:C1412339, + HGNC:408, + HGNC_symbol:ALDH5A1 ; biolink:category biolink:Gene . OMIM:610046 a owl:Class ; @@ -274137,7 +284722,6 @@ OMIM:610046 a owl:Class ; IAO:0000142 PMID:14706636, PMID:17525158, PMID:22997338 ; - oboInOwl:hasDbXref UMLS:C1864740 ; oboInOwl:hasExactSynonym "LVRN", "aminopeptidase q", "chl2 antigen", @@ -274146,13 +284730,14 @@ OMIM:610046 a owl:Class ; "transmembrane aminopeptidase q" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:206338 ; - skos:exactMatch HGNC_symbol:LVRN ; + skos:exactMatch UMLS:C1864740, + HGNC:26904, + HGNC_symbol:LVRN ; biolink:category biolink:Gene . OMIM:610047 a owl:Class ; rdfs:label "CNPY4" ; IAO:0000142 PMID:16338228 ; - oboInOwl:hasDbXref UMLS:C1864739 ; oboInOwl:hasExactSynonym "CNPY4", "canopy 4, zebrafish, homolog of", "canopy fgf signaling regulator 4", @@ -274160,7 +284745,9 @@ OMIM:610047 a owl:Class ; "protein associated with tlr4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245812 ; - skos:exactMatch HGNC_symbol:CNPY4 ; + skos:exactMatch UMLS:C1864739, + HGNC:28631, + HGNC_symbol:CNPY4 ; biolink:category biolink:Gene . OMIM:610049 a owl:Class ; @@ -274168,8 +284755,6 @@ OMIM:610049 a owl:Class ; IAO:0000142 PMID:11922608, PMID:15284855, PMID:15338056 ; - oboInOwl:hasDbXref UMLS:C1864736, - UMLS:C3274695 ; oboInOwl:hasExactSynonym "SARNP", "cip29/mll fusion gene", "cytokine-induced protein, 29-kd", @@ -274178,20 +284763,24 @@ OMIM:610049 a owl:Class ; "sap domain-containing ribonucleoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84324 ; - skos:exactMatch HGNC_symbol:SARNP ; + skos:exactMatch UMLS:C1864736, + UMLS:C3274695, + HGNC:24432, + HGNC_symbol:SARNP ; biolink:category biolink:Gene . OMIM:610050 a owl:Class ; rdfs:label "TMPRSS13" ; IAO:0000142 PMID:11267681 ; - oboInOwl:hasDbXref UMLS:C1540030 ; oboInOwl:hasExactSynonym "TMPRSS13", "mosaic serine protease long", "mosaic serine protease short", "transmembrane protease, serine 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84000 ; - skos:exactMatch HGNC_symbol:TMPRSS13 ; + skos:exactMatch UMLS:C1540030, + HGNC:29808, + HGNC_symbol:TMPRSS13 ; biolink:category biolink:Gene . OMIM:610051 a owl:Class ; @@ -274201,7 +284790,6 @@ OMIM:610051 a owl:Class ; PMID:15632132, PMID:16730941, PMID:19234443 ; - oboInOwl:hasDbXref UMLS:C1538457 ; oboInOwl:hasExactSynonym "CHMP4A", "charged multivesicular body protein 4a", "chmp family, member 4a", @@ -274212,7 +284800,9 @@ OMIM:610051 a owl:Class ; "snf7-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29082 ; - skos:exactMatch HGNC_symbol:CHMP4A ; + skos:exactMatch UMLS:C1538457, + HGNC:20274, + HGNC_symbol:CHMP4A ; biolink:category biolink:Gene . OMIM:610052 a owl:Class ; @@ -274224,7 +284814,6 @@ OMIM:610052 a owl:Class ; PMID:16740483, PMID:18687924, PMID:19234443 ; - oboInOwl:hasDbXref UMLS:C1428904 ; oboInOwl:hasExactSynonym "CHMP3", "charged multivesicular body protein 3", "chmp family, member 3", @@ -274233,7 +284822,9 @@ OMIM:610052 a owl:Class ; "vacuolar protein sorting 24, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51652 ; - skos:exactMatch HGNC_symbol:CHMP3 ; + skos:exactMatch UMLS:C1428904, + HGNC:29865, + HGNC_symbol:CHMP3 ; biolink:category biolink:Gene . OMIM:610053 a owl:Class ; @@ -274245,14 +284836,15 @@ OMIM:610053 a owl:Class ; PMID:5936364 ; RO:0002525 CHR:9606chr22q13.33 ; RO:0003303 OMIM:251270 ; - oboInOwl:hasDbXref UMLS:C1425332 ; oboInOwl:hasExactSynonym "TUBGCP6", "gcp6", "kiaa1669", "tubulin-gamma complex-associated protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85378 ; - skos:exactMatch HGNC_symbol:TUBGCP6 ; + skos:exactMatch UMLS:C1425332, + HGNC:18127, + HGNC_symbol:TUBGCP6 ; biolink:category biolink:Gene . OMIM:610054 a owl:Class ; @@ -274266,7 +284858,6 @@ OMIM:610054 a owl:Class ; PMID:30711920, PMID:9138085, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1415407 ; oboInOwl:hasExactSynonym "H2AFY", "h2a histone family, member y", "macro h2a", @@ -274274,7 +284865,9 @@ OMIM:610054 a owl:Class ; "mh2a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9555 ; - skos:exactMatch HGNC_symbol:MACROH2A1 ; + skos:exactMatch UMLS:C1415407, + HGNC:4740, + HGNC_symbol:MACROH2A1 ; biolink:category biolink:Gene . OMIM:610055 a owl:Class ; @@ -274284,23 +284877,25 @@ OMIM:610055 a owl:Class ; PMID:17084358 ; RO:0002525 CHR:9606chr19p13.12 ; RO:0003303 OMIM:608443 ; - oboInOwl:hasDbXref UMLS:C1824539 ; oboInOwl:hasExactSynonym "CC2D1A", "coiled-coil and c2 domains-containing protein 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54862 ; - skos:exactMatch HGNC_symbol:CC2D1A ; + skos:exactMatch UMLS:C1824539, + HGNC:30237, + HGNC_symbol:CC2D1A ; biolink:category biolink:Gene . OMIM:610056 a owl:Class ; rdfs:label "SPAG7" ; IAO:0000142 PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1420340 ; oboInOwl:hasExactSynonym "SPAG7", "sperm-associated antigen 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9552 ; - skos:exactMatch HGNC_symbol:SPAG7 ; + skos:exactMatch UMLS:C1420340, + HGNC:11216, + HGNC_symbol:SPAG7 ; biolink:category biolink:Gene . OMIM:610057 a owl:Class ; @@ -274314,7 +284909,6 @@ OMIM:610057 a owl:Class ; PMID:9653160 ; RO:0002525 CHR:9606chr19p13.12 ; RO:0003303 OMIM:614020 ; - oboInOwl:hasDbXref UMLS:C1415273 ; oboInOwl:hasExactSynonym "TECR", "glycoprotein, synaptic, 2", "sc2", @@ -274322,7 +284916,9 @@ OMIM:610057 a owl:Class ; "trans-2,3-enoyl-coa reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9524 ; - skos:exactMatch HGNC_symbol:TECR ; + skos:exactMatch UMLS:C1415273, + HGNC:4551, + HGNC_symbol:TECR ; biolink:category biolink:Gene . OMIM:610058 a owl:Class ; @@ -274330,24 +284926,26 @@ OMIM:610058 a owl:Class ; IAO:0000142 PMID:15963512, PMID:8706133, PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1420594 ; oboInOwl:hasExactSynonym "TBCA", "chaperonin cofactor a", "tubulin-specific chaperone a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6902 ; - skos:exactMatch HGNC_symbol:TBCA ; + skos:exactMatch UMLS:C1420594, + HGNC:11579, + HGNC_symbol:TBCA ; biolink:category biolink:Gene . OMIM:610059 a owl:Class ; rdfs:label "MRPL33" ; IAO:0000142 PMID:9653160 ; - oboInOwl:hasDbXref UMLS:C1422693 ; oboInOwl:hasExactSynonym "MRPL33", "mitochondrial ribosomal protein l33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9553 ; - skos:exactMatch HGNC_symbol:MRPL33 ; + skos:exactMatch UMLS:C1422693, + HGNC:14487, + HGNC_symbol:MRPL33 ; biolink:category biolink:Gene . OMIM:610060 a owl:Class ; @@ -274359,7 +284957,6 @@ OMIM:610060 a owl:Class ; PMID:9653160 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:248390 ; - oboInOwl:hasDbXref UMLS:C1426766 ; oboInOwl:hasExactSynonym "POLR1C", "polymerase i, rna, subunit c", "rpa39", @@ -274368,7 +284965,9 @@ OMIM:610060 a owl:Class ; "rpac1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9533 ; - skos:exactMatch HGNC_symbol:POLR1C ; + skos:exactMatch UMLS:C1426766, + HGNC:20194, + HGNC_symbol:POLR1C ; biolink:category biolink:Gene . OMIM:610061 a owl:Class ; @@ -274376,13 +284975,14 @@ OMIM:610061 a owl:Class ; IAO:0000142 PMID:10231032, PMID:11877439, PMID:15937072 ; - oboInOwl:hasDbXref UMLS:C1425687 ; oboInOwl:hasExactSynonym "DNAH7", "dynein, axonemal, heavy chain 7", "kiaa0944" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56171 ; - skos:exactMatch HGNC_symbol:DNAH7 ; + skos:exactMatch UMLS:C1425687, + HGNC:18661, + HGNC_symbol:DNAH7 ; biolink:category biolink:Gene . OMIM:610062 a owl:Class ; @@ -274391,13 +284991,14 @@ OMIM:610062 a owl:Class ; PMID:21496787 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:614017 ; - oboInOwl:hasDbXref UMLS:C1824951 ; oboInOwl:hasExactSynonym "DNAL1", "chromosome 14 open reading frame 168", "dynein, axonemal, light chain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83544 ; - skos:exactMatch HGNC_symbol:DNAL1 ; + skos:exactMatch UMLS:C1824951, + HGNC:23247, + HGNC_symbol:DNAL1 ; biolink:category biolink:Gene . OMIM:610063 a owl:Class ; @@ -274406,13 +285007,14 @@ OMIM:610063 a owl:Class ; PMID:9545504 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:618643 ; - oboInOwl:hasDbXref UMLS:C1414098 ; oboInOwl:hasExactSynonym "DNAH17", "dnel2", "dynein, axonemal, heavy chain 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8632 ; - skos:exactMatch HGNC_symbol:DNAH17 ; + skos:exactMatch UMLS:C1414098, + HGNC:2946, + HGNC_symbol:DNAH17 ; biolink:category biolink:Gene . OMIM:610067 a owl:Class ; @@ -274422,15 +285024,16 @@ OMIM:610067 a owl:Class ; PMID:18854160, PMID:19006078, PMID:23345592 ; - oboInOwl:hasDbXref UMLS:C1429078, - UMLS:C3275261 ; oboInOwl:hasExactSynonym "MYO18A", "myo18a/pdgfrb fusion gene", "myosin 18a", "surfactant protein a receptor, 210-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399687 ; - skos:exactMatch HGNC_symbol:MYO18A ; + skos:exactMatch UMLS:C1429078, + UMLS:C3275261, + HGNC:31104, + HGNC_symbol:MYO18A ; biolink:category biolink:Gene . OMIM:610068 a owl:Class ; @@ -274440,69 +285043,74 @@ OMIM:610068 a owl:Class ; PMID:15548529, PMID:16532010, PMID:16570061 ; - oboInOwl:hasDbXref UMLS:C1422678 ; oboInOwl:hasExactSynonym "solute carrier family 26 (anion transporter), member 6: slc26a6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65010 ; - skos:exactMatch HGNC_symbol:SLC26A6 ; + skos:exactMatch UMLS:C1422678, + HGNC:14472, + HGNC_symbol:SLC26A6 ; biolink:category biolink:Gene . OMIM:610069 a owl:Class ; rdfs:label "polyposis syndrome, hereditary mixed, 2" ; IAO:0000142 PMID:16525031, PMID:8644741 ; - oboInOwl:hasDbXref UMLS:C1864730 ; oboInOwl:hasExactSynonym "HMPS2", "polyposis syndrome, hereditary mixed, 2" ; rdfs:subClassOf OMIMPS:601228 ; + skos:exactMatch UMLS:C1864730 ; biolink:category biolink:Disease . OMIM:610070 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:16049101, PMID:17925329 ; - oboInOwl:hasDbXref UMLS:C1825946 ; oboInOwl:hasExactSynonym "asap", "aster-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79884 ; - skos:exactMatch HGNC_symbol:MAP9 ; + skos:exactMatch UMLS:C1825946, + HGNC:26118, + HGNC_symbol:MAP9 ; biolink:category biolink:Gene . OMIM:610072 a owl:Class ; rdfs:label "ERMN" ; IAO:0000142 PMID:10574461, PMID:16421295 ; - oboInOwl:hasDbXref UMLS:C1428813 ; oboInOwl:hasExactSynonym "ERMN", "ermin", "juxtanodin", "kiaa1189" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57471 ; - skos:exactMatch HGNC_symbol:ERMN ; + skos:exactMatch UMLS:C1428813, + HGNC:29208, + HGNC_symbol:ERMN ; biolink:category biolink:Gene . OMIM:610073 a owl:Class ; rdfs:label "ORMDL1" ; IAO:0000142 PMID:20182505 ; - oboInOwl:hasDbXref UMLS:C1423928 ; oboInOwl:hasExactSynonym "ORMDL1", "orm1-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94101 ; - skos:exactMatch HGNC_symbol:ORMDL1 ; + skos:exactMatch UMLS:C1423928, + HGNC:16036, + HGNC_symbol:ORMDL1 ; biolink:category biolink:Gene . OMIM:610074 a owl:Class ; rdfs:label "ORMDL2" ; IAO:0000142 PMID:20182505 ; - oboInOwl:hasDbXref UMLS:C1423929 ; oboInOwl:hasExactSynonym "ORMDL2", "orm1-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29095 ; - skos:exactMatch HGNC_symbol:ORMDL2 ; + skos:exactMatch UMLS:C1423929, + HGNC:16037, + HGNC_symbol:ORMDL2 ; biolink:category biolink:Gene . OMIM:610075 a owl:Class ; @@ -274511,18 +285119,18 @@ OMIM:610075 a owl:Class ; PMID:19819884, PMID:20182505, PMID:20228799 ; - oboInOwl:hasDbXref UMLS:C1423930 ; oboInOwl:hasExactSynonym "ORMDL3", "orm1-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94103 ; - skos:exactMatch HGNC_symbol:ORMDL3 ; + skos:exactMatch UMLS:C1423930, + HGNC:16038, + HGNC_symbol:ORMDL3 ; biolink:category biolink:Gene . OMIM:610076 a owl:Class ; rdfs:label "CDK20" ; IAO:0000142 PMID:14597612 ; - oboInOwl:hasDbXref UMLS:C1539079 ; oboInOwl:hasExactSynonym "CDK20", "cell cycle-related kinase", "cyclin-dependent kinase 20", @@ -274530,7 +285138,9 @@ OMIM:610076 a owl:Class ; "p42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23552 ; - skos:exactMatch HGNC_symbol:CDK20 ; + skos:exactMatch UMLS:C1539079, + HGNC:21420, + HGNC_symbol:CDK20 ; biolink:category biolink:Gene . OMIM:610077 a owl:Class ; @@ -274539,27 +285149,29 @@ OMIM:610077 a owl:Class ; PMID:17327222, PMID:19652095, PMID:9756947 ; - oboInOwl:hasDbXref UMLS:C1539026 ; oboInOwl:hasExactSynonym "RGCC", "chromosome 13 open reading frame 15", "regulator of cell cycle", "response gene to complement 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28984 ; - skos:exactMatch HGNC_symbol:RGCC ; + skos:exactMatch UMLS:C1539026, + HGNC:20369, + HGNC_symbol:RGCC ; biolink:category biolink:Gene . OMIM:610078 a owl:Class ; rdfs:label "MORC3" ; IAO:0000142 PMID:11927593, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1826267 ; oboInOwl:hasExactSynonym "MORC3", "morc family cw-type zinc finger protein 3", "nuclear matrix protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23515 ; - skos:exactMatch HGNC_symbol:MORC3 ; + skos:exactMatch UMLS:C1826267, + HGNC:23572, + HGNC_symbol:MORC3 ; biolink:category biolink:Gene . OMIM:610079 a owl:Class ; @@ -274569,38 +285181,41 @@ OMIM:610079 a owl:Class ; PMID:20555325 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:613551 ; - oboInOwl:hasDbXref UMLS:C1822723 ; oboInOwl:hasExactSynonym "SIAE", "sialic acid acetylesterase", "sialic acid acetylesterase, cytosolic", "sialic acid acetylesterase, lysosomal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54414 ; - skos:exactMatch HGNC_symbol:SIAE ; + skos:exactMatch UMLS:C1822723, + HGNC:18187, + HGNC_symbol:SIAE ; biolink:category biolink:Gene . OMIM:610080 a owl:Class ; rdfs:label "TM2D1" ; IAO:0000142 PMID:11278849 ; - oboInOwl:hasDbXref UMLS:C1864725 ; oboInOwl:hasExactSynonym "TM2D1", "beta-amyloid peptide-binding protein", "tm2 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83941 ; - skos:exactMatch HGNC_symbol:TM2D1 ; + skos:exactMatch UMLS:C1864725, + HGNC:24142, + HGNC_symbol:TM2D1 ; biolink:category biolink:Gene . OMIM:610081 a owl:Class ; rdfs:label "TM2D2" ; IAO:0000142 PMID:11278849 ; - oboInOwl:hasDbXref UMLS:C1864724 ; oboInOwl:hasExactSynonym "TM2D2", "bbp-like protein 1", "tm2 domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83877 ; - skos:exactMatch HGNC_symbol:TM2D2 ; + skos:exactMatch UMLS:C1864724, + HGNC:24127, + HGNC_symbol:TM2D2 ; biolink:category biolink:Gene . OMIM:610082 a owl:Class ; @@ -274610,14 +285225,15 @@ OMIM:610082 a owl:Class ; PMID:12826659, PMID:14550572, PMID:19520913 ; - oboInOwl:hasDbXref UMLS:C1427370 ; oboInOwl:hasExactSynonym "MYLIP", "inducible degrader of the low density lipoprotein receptor", "mir", "myosin regulatory light chain-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29116 ; - skos:exactMatch HGNC_symbol:MYLIP ; + skos:exactMatch UMLS:C1427370, + HGNC:21155, + HGNC_symbol:MYLIP ; biolink:category biolink:Gene . OMIM:610083 a owl:Class ; @@ -274632,7 +285248,6 @@ OMIM:610083 a owl:Class ; PMID:30513139 ; RO:0002525 CHR:9606chr4q34.3-q35.1 ; RO:0003303 OMIM:615145 ; - oboInOwl:hasDbXref UMLS:C1538511 ; oboInOwl:hasExactSynonym "TENM3", "kiaa1455", "odz, drosophila, homolog of, 3", @@ -274640,7 +285255,9 @@ OMIM:610083 a owl:Class ; "teneurin transmembrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55714 ; - skos:exactMatch HGNC_symbol:TENM3 ; + skos:exactMatch UMLS:C1538511, + HGNC:29944, + HGNC_symbol:TENM3 ; biolink:category biolink:Gene . OMIM:610084 a owl:Class ; @@ -274653,7 +285270,6 @@ OMIM:610084 a owl:Class ; PMID:26188006 ; RO:0002525 CHR:9606chr11q14.1 ; RO:0003303 OMIM:616736 ; - oboInOwl:hasDbXref UMLS:C1538512 ; oboInOwl:hasExactSynonym "TENM4", "doc4", "kiaa1302", @@ -274662,20 +285278,23 @@ OMIM:610084 a owl:Class ; "teneurin transmembrane protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26011 ; - skos:exactMatch HGNC_symbol:TENM4 ; + skos:exactMatch UMLS:C1538512, + HGNC:29945, + HGNC_symbol:TENM4 ; biolink:category biolink:Gene . OMIM:610085 a owl:Class ; rdfs:label "FAM167A" ; IAO:0000142 PMID:11896452, PMID:18204098 ; - oboInOwl:hasDbXref UMLS:C1423570 ; oboInOwl:hasExactSynonym "FAM167A", "chromosome 8 open reading frame 13", "family with sequence similarity 167, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83648 ; - skos:exactMatch HGNC_symbol:FAM167A ; + skos:exactMatch UMLS:C1423570, + HGNC:15549, + HGNC_symbol:FAM167A ; biolink:category biolink:Gene . OMIM:610086 a owl:Class ; @@ -274683,14 +285302,15 @@ OMIM:610086 a owl:Class ; IAO:0000142 PMID:12923295, PMID:16051612, PMID:19300908 ; - oboInOwl:hasDbXref UMLS:C1826703 ; oboInOwl:hasExactSynonym "PRMT8", "heterogeneous nuclear ribonucleoprotein methyltransferase 1-like 3", "hrmt1l4", "protein arginine methyltransferase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56341 ; - skos:exactMatch HGNC_symbol:PRMT8 ; + skos:exactMatch UMLS:C1826703, + HGNC:5188, + HGNC_symbol:PRMT8 ; biolink:category biolink:Gene . OMIM:610087 a owl:Class ; @@ -274703,26 +285323,28 @@ OMIM:610087 a owl:Class ; PMID:30513135 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:617157 ; - oboInOwl:hasDbXref UMLS:C1826702, - UMLS:C4310689 ; oboInOwl:hasExactSynonym "PRMT7", "kiaa1933", "protein arginine methyltransferase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54496 ; - skos:exactMatch HGNC_symbol:PRMT7 ; + skos:exactMatch UMLS:C1826702, + UMLS:C4310689, + HGNC:25557, + HGNC_symbol:PRMT7 ; biolink:category biolink:Gene . OMIM:610088 a owl:Class ; rdfs:label "OLFML3" ; IAO:0000142 PMID:15280020 ; - oboInOwl:hasDbXref UMLS:C1538536 ; oboInOwl:hasExactSynonym "OLFML3", "olfactomedin, 44-kd", "olfactomedin-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56944 ; - skos:exactMatch HGNC_symbol:OLFML3 ; + skos:exactMatch UMLS:C1538536, + HGNC:24956, + HGNC_symbol:OLFML3 ; biolink:category biolink:Gene . OMIM:610089 a owl:Class ; @@ -274734,12 +285356,13 @@ OMIM:610089 a owl:Class ; PMID:31204009 ; RO:0002525 CHR:9606chr7q22.3 ; RO:0003303 OMIM:618641 ; - oboInOwl:hasDbXref UMLS:C1826831 ; oboInOwl:hasExactSynonym "RINT1", "rad50-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60561 ; - skos:exactMatch HGNC_symbol:RINT1 ; + skos:exactMatch UMLS:C1826831, + HGNC:21876, + HGNC_symbol:RINT1 ; biolink:category biolink:Gene . OMIM:610091 a owl:Class ; @@ -274747,26 +285370,27 @@ OMIM:610091 a owl:Class ; IAO:0000142 PMID:10354473, PMID:15965468, PMID:16614224 ; - oboInOwl:hasDbXref UMLS:C1426096 ; oboInOwl:hasExactSynonym "WSB1", "socs box and wb repeats 1n protein 1", "wd repeat- and socs box-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26118 ; - skos:exactMatch HGNC_symbol:WSB1 ; + skos:exactMatch UMLS:C1426096, + HGNC:19221, + HGNC_symbol:WSB1 ; biolink:category biolink:Gene . OMIM:610092 a owl:Class ; rdfs:label "microphthalmia, isolated, with coloboma 3" ; IAO:0000142 PMID:15257456, PMID:8209881 ; - oboInOwl:hasDbXref UMLS:C1864721, - UMLS:C1864722 ; oboInOwl:hasExactSynonym "MCOPCB3", "microphthalmia, cataracts, and iris abnormalities", "microphthalmia, colobomatous, isolated 3", "microphthalmia, isolated, with coloboma 3" ; rdfs:subClassOf OMIMPS:300345 ; + skos:exactMatch UMLS:C1864721, + UMLS:C1864722 ; biolink:category biolink:Disease . OMIM:610094 a owl:Class ; @@ -274779,7 +285403,6 @@ OMIM:610094 a owl:Class ; PMID:19062315 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:619573 ; - oboInOwl:hasDbXref UMLS:C1413972 ; oboInOwl:hasExactSynonym "DEF6", "def6 guanine nucleotide exchange factor", "def6, mouse, homolog of", @@ -274787,7 +285410,9 @@ OMIM:610094 a owl:Class ; "swap70-like adaptor of t cells" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50619 ; - skos:exactMatch HGNC_symbol:DEF6 ; + skos:exactMatch UMLS:C1413972, + HGNC:2760, + HGNC_symbol:DEF6 ; biolink:category biolink:Gene . OMIM:610095 a owl:Class ; @@ -274795,7 +285420,6 @@ OMIM:610095 a owl:Class ; IAO:0000142 PMID:15778373, PMID:16391939, PMID:9862332 ; - oboInOwl:hasDbXref UMLS:C1424177 ; oboInOwl:hasExactSynonym "KIR3DL3", "cd158z", "killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3", @@ -274804,7 +285428,9 @@ OMIM:610095 a owl:Class ; "kirc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115653 ; - skos:exactMatch HGNC_symbol:KIR3DL3 ; + skos:exactMatch UMLS:C1424177, + HGNC:16312, + HGNC_symbol:KIR3DL3 ; biolink:category biolink:Gene . OMIM:610096 a owl:Class ; @@ -274814,27 +285440,29 @@ OMIM:610096 a owl:Class ; PMID:15793576, PMID:17960135, PMID:24739967 ; - oboInOwl:hasDbXref UMLS:C1539967 ; oboInOwl:hasExactSynonym "TIMD4", "smuckler", "t-cell immunoglobulin and mucin domains-containing protein 4", "tim4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91937 ; - skos:exactMatch HGNC_symbol:TIMD4 ; + skos:exactMatch UMLS:C1539967, + HGNC:25132, + HGNC_symbol:TIMD4 ; biolink:category biolink:Gene . OMIM:610097 a owl:Class ; rdfs:label "ODF4" ; IAO:0000142 PMID:12079992, PMID:12728016 ; - oboInOwl:hasDbXref UMLS:C1425981 ; oboInOwl:hasExactSynonym "ODF4", "oppo1", "outer dense fiber of sperm tails 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146852 ; - skos:exactMatch HGNC_symbol:ODF4 ; + skos:exactMatch UMLS:C1425981, + HGNC:19056, + HGNC_symbol:ODF4 ; biolink:category biolink:Gene . OMIM:610098 a owl:Class ; @@ -274846,37 +285474,40 @@ OMIM:610098 a owl:Class ; PMID:26771056 ; RO:0002525 CHR:9606chr6q22.31 ; RO:0003303 OMIM:616185 ; - oboInOwl:hasDbXref UMLS:C1427573 ; oboInOwl:hasExactSynonym "MCM9", "minichromosome maintenance complex component 9", "minichromosome maintenance deficient domain containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254394 ; - skos:exactMatch HGNC_symbol:MCM9 ; + skos:exactMatch UMLS:C1427573, + HGNC:21484, + HGNC_symbol:MCM9 ; biolink:category biolink:Gene . OMIM:610101 a owl:Class ; rdfs:label "CUTC" ; IAO:0000142 PMID:16182249, PMID:7635807 ; - oboInOwl:hasDbXref UMLS:C1539168 ; oboInOwl:hasExactSynonym "CUTC", "copper transporter protein cutc", "cutc copper transporter, e. coli, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51076 ; - skos:exactMatch HGNC_symbol:CUTC ; + skos:exactMatch UMLS:C1539168, + HGNC:24271, + HGNC_symbol:CUTC ; biolink:category biolink:Gene . OMIM:610103 a owl:Class ; rdfs:label "S100Z" ; IAO:0000142 PMID:11747429 ; - oboInOwl:hasDbXref UMLS:C1539719 ; oboInOwl:hasExactSynonym "S100Z", "s100 calcium-binding protein, zeta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170591 ; - skos:exactMatch HGNC_symbol:S100Z ; + skos:exactMatch UMLS:C1539719, + HGNC:30367, + HGNC_symbol:S100Z ; biolink:category biolink:Gene . OMIM:610104 a owl:Class ; @@ -274890,14 +285521,15 @@ OMIM:610104 a owl:Class ; PMID:19293287, PMID:21118985, PMID:25027842 ; - oboInOwl:hasDbXref UMLS:C1537771 ; oboInOwl:hasExactSynonym "MIR125B1", "micro RNA 125b1", "mirn125b1", "mirna125b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406911 ; - skos:exactMatch HGNC_symbol:MIR125B1 ; + skos:exactMatch UMLS:C1537771, + HGNC:31506, + HGNC_symbol:MIR125B1 ; biolink:category biolink:Gene . OMIM:610105 a owl:Class ; @@ -274913,14 +285545,15 @@ OMIM:610105 a owl:Class ; PMID:21212412, PMID:23042294, PMID:25027842 ; - oboInOwl:hasDbXref UMLS:C1537772 ; oboInOwl:hasExactSynonym "MIR125B2", "micro RNA 125b2", "mirn125b2", "mirna125b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406912 ; - skos:exactMatch HGNC_symbol:MIR125B2 ; + skos:exactMatch UMLS:C1537772, + HGNC:31507, + HGNC_symbol:MIR125B2 ; biolink:category biolink:Gene . OMIM:610106 a owl:Class ; @@ -274928,13 +285561,14 @@ OMIM:610106 a owl:Class ; IAO:0000142 PMID:10567356, PMID:14729663, PMID:16055701 ; - oboInOwl:hasDbXref UMLS:C1413923 ; oboInOwl:hasExactSynonym "DBNL", "drebrin-like", "hpk1-interacting protein, 55-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28988 ; - skos:exactMatch HGNC_symbol:DBNL ; + skos:exactMatch UMLS:C1413923, + HGNC:2696, + HGNC_symbol:DBNL ; biolink:category biolink:Gene . OMIM:610107 a owl:Class ; @@ -274950,8 +285584,6 @@ OMIM:610107 a owl:Class ; PMID:9506886 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:617729 ; - oboInOwl:hasDbXref UMLS:C1425254, - UMLS:C4540266 ; oboInOwl:hasExactSynonym "OSGEP", "flj20411", "kae1", @@ -274959,7 +285591,10 @@ OMIM:610107 a owl:Class ; "tsc3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55644 ; - skos:exactMatch HGNC_symbol:OSGEP ; + skos:exactMatch UMLS:C1425254, + UMLS:C4540266, + HGNC:18028, + HGNC_symbol:OSGEP ; biolink:category biolink:Gene . OMIM:610108 a owl:Class ; @@ -274972,13 +285607,14 @@ OMIM:610108 a owl:Class ; PMID:21041307, PMID:29236684, PMID:29236691 ; - oboInOwl:hasDbXref UMLS:C1427656 ; oboInOwl:hasExactSynonym "ANO1", "anoctamin 1, calcium-activated chloride channel", "transmembrane protein 16a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55107 ; - skos:exactMatch HGNC_symbol:ANO1 ; + skos:exactMatch UMLS:C1427656, + HGNC:21625, + HGNC_symbol:ANO1 ; biolink:category biolink:Gene . OMIM:610109 a owl:Class ; @@ -274986,14 +285622,15 @@ OMIM:610109 a owl:Class ; IAO:0000142 PMID:12739008, PMID:19015192, PMID:19561302 ; - oboInOwl:hasDbXref UMLS:C1412880 ; oboInOwl:hasExactSynonym "ANO2", "anoctamin 2", "chromosome 12 open reading frame 3", "transmembrane protein 16b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57101 ; - skos:exactMatch HGNC_symbol:ANO2 ; + skos:exactMatch UMLS:C1412880, + HGNC:1183, + HGNC_symbol:ANO2 ; biolink:category biolink:Gene . OMIM:610110 a owl:Class ; @@ -275003,27 +285640,29 @@ OMIM:610110 a owl:Class ; PMID:23200863 ; RO:0002525 CHR:9606chr11p14.3-p14.2 ; RO:0003303 OMIM:615034 ; - oboInOwl:hasDbXref UMLS:C1422340 ; oboInOwl:hasExactSynonym "ANO3", "anoctamin 3", "chromosome 11 open reading frame 25", "transmembrane protein 16c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63982 ; - skos:exactMatch HGNC_symbol:ANO3 ; + skos:exactMatch UMLS:C1422340, + HGNC:14004, + HGNC_symbol:ANO3 ; biolink:category biolink:Gene . OMIM:610111 a owl:Class ; rdfs:label "ANO4" ; IAO:0000142 PMID:12739008 ; - oboInOwl:hasDbXref UMLS:C1428288 ; oboInOwl:hasExactSynonym "ANO4", "anoctamin 4", "flj34272", "transmembrane protein 16d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121601 ; - skos:exactMatch HGNC_symbol:ANO4 ; + skos:exactMatch UMLS:C1428288, + HGNC:23837, + HGNC_symbol:ANO4 ; biolink:category biolink:Gene . OMIM:610112 a owl:Class ; @@ -275031,14 +285670,15 @@ OMIM:610112 a owl:Class ; IAO:0000142 PMID:11214970, PMID:12939343, PMID:15128042 ; - oboInOwl:hasDbXref UMLS:C1864692 ; oboInOwl:hasExactSynonym "CMIP", "c-maf-inducing protein", "c-maf-inducing protein, truncated", "kiaa1694" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80790 ; - skos:exactMatch HGNC_symbol:CMIP ; + skos:exactMatch UMLS:C1864692, + HGNC:24319, + HGNC_symbol:CMIP ; biolink:category biolink:Gene . OMIM:610113 a owl:Class ; @@ -275055,26 +285695,28 @@ OMIM:610113 a owl:Class ; PMID:26405179 ; RO:0002525 CHR:9606chr1q21.2 ; RO:0003303 OMIM:225100 ; - oboInOwl:hasDbXref UMLS:C1826407 ; oboInOwl:hasExactSynonym "ADAMTSL4", "adamts-like 4", "thrombospondin repeat-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54507 ; - skos:exactMatch HGNC_symbol:ADAMTSL4 ; + skos:exactMatch UMLS:C1826407, + HGNC:19706, + HGNC_symbol:ADAMTSL4 ; biolink:category biolink:Gene . OMIM:610115 a owl:Class ; rdfs:label "TMEM48" ; IAO:0000142 PMID:16600873, PMID:24045954 ; - oboInOwl:hasDbXref UMLS:C1540022 ; oboInOwl:hasExactSynonym "TMEM48", "ndc1, s. cerevisiae, homolog of", "transmembrane protein 48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55706 ; - skos:exactMatch HGNC_symbol:NDC1 ; + skos:exactMatch UMLS:C1540022, + HGNC:25525, + HGNC_symbol:NDC1 ; biolink:category biolink:Gene . OMIM:610116 a owl:Class ; @@ -275085,37 +285727,40 @@ OMIM:610116 a owl:Class ; PMID:12902497, PMID:7584026, PMID:9295203 ; - oboInOwl:hasDbXref UMLS:C1538560 ; oboInOwl:hasExactSynonym "P2RY14", "g protein-coupled receptor 105", "kiaa0001", "purinergic receptor p2y, g protein-coupled, 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9934 ; - skos:exactMatch HGNC_symbol:P2RY14 ; + skos:exactMatch UMLS:C1538560, + HGNC:16442, + HGNC_symbol:P2RY14 ; biolink:category biolink:Gene . OMIM:610117 a owl:Class ; rdfs:label "SLC26A11" ; IAO:0000142 PMID:12626430 ; - oboInOwl:hasDbXref UMLS:C1422677 ; oboInOwl:hasExactSynonym "SLC26A11", "solute carrier family 26 (sulfate transporter), member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284129 ; - skos:exactMatch HGNC_symbol:SLC26A11 ; + skos:exactMatch UMLS:C1422677, + HGNC:14471, + HGNC_symbol:SLC26A11 ; biolink:category biolink:Gene . OMIM:610118 a owl:Class ; rdfs:label "GPR33" ; IAO:0000142 PMID:15987686, PMID:9653656 ; - oboInOwl:hasDbXref UMLS:C1415226 ; oboInOwl:hasExactSynonym "GPR33", "g protein-coupled receptor 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2856 ; - skos:exactMatch HGNC_symbol:GPR33 ; + skos:exactMatch UMLS:C1415226, + HGNC:4489, + HGNC_symbol:GPR33 ; biolink:category biolink:Gene . OMIM:610119 a owl:Class ; @@ -275124,7 +285769,6 @@ OMIM:610119 a owl:Class ; PMID:10331952, PMID:10574461, PMID:24273166 ; - oboInOwl:hasDbXref UMLS:C1538510 ; oboInOwl:hasExactSynonym "TENM2", "kiaa1127", "odz, drosophila, homolog of, 2", @@ -275132,44 +285776,49 @@ OMIM:610119 a owl:Class ; "teneurin transmembrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57451 ; - skos:exactMatch HGNC_symbol:TENM2 ; + skos:exactMatch UMLS:C1538510, + HGNC:29943, + HGNC_symbol:TENM2 ; biolink:category biolink:Gene . OMIM:610120 a owl:Class ; rdfs:label "TSPAN33" ; IAO:0000142 PMID:16213355 ; - oboInOwl:hasDbXref UMLS:C1823520 ; oboInOwl:hasExactSynonym "TSPAN33", "penumbra", "tetraspanin 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340348 ; - skos:exactMatch HGNC_symbol:TSPAN33 ; + skos:exactMatch UMLS:C1823520, + HGNC:28743, + HGNC_symbol:TSPAN33 ; biolink:category biolink:Gene . OMIM:610121 a owl:Class ; rdfs:label "HTR3C" ; IAO:0000142 PMID:12801637, PMID:14597179 ; - oboInOwl:hasDbXref UMLS:C1537390 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 3c", "HTR3C", "serotonin 5-ht-3c receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170572 ; - skos:exactMatch HGNC_symbol:HTR3C ; + skos:exactMatch UMLS:C1537390, + HGNC:24003, + HGNC_symbol:HTR3C ; biolink:category biolink:Gene . OMIM:610122 a owl:Class ; rdfs:label "HTR3D" ; IAO:0000142 PMID:12801637 ; - oboInOwl:hasDbXref UMLS:C1537391 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 3d", "HTR3D", "serotonin 5-ht-3d receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200909 ; - skos:exactMatch HGNC_symbol:HTR3D ; + skos:exactMatch UMLS:C1537391, + HGNC:24004, + HGNC_symbol:HTR3D ; biolink:category biolink:Gene . OMIM:610123 a owl:Class ; @@ -275177,25 +285826,27 @@ OMIM:610123 a owl:Class ; IAO:0000142 PMID:12801637, PMID:14597179, PMID:18614545 ; - oboInOwl:hasDbXref UMLS:C1537392 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine receptor 3e", "HTR3E", "serotonin 5-ht-3e receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285242 ; - skos:exactMatch HGNC_symbol:HTR3E ; + skos:exactMatch UMLS:C1537392, + HGNC:24005, + HGNC_symbol:HTR3E ; biolink:category biolink:Gene . OMIM:610124 a owl:Class ; rdfs:label "CHST13" ; IAO:0000142 PMID:12080076 ; - oboInOwl:hasDbXref UMLS:C1427744 ; oboInOwl:hasExactSynonym "CHST13", "carbohydrate sulfotransferase 13", "chondroitin 4-sulfotransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166012 ; - skos:exactMatch HGNC_symbol:CHST13 ; + skos:exactMatch UMLS:C1427744, + HGNC:21755, + HGNC_symbol:CHST13 ; biolink:category biolink:Gene . OMIM:610126 a owl:Class ; @@ -275211,26 +285862,28 @@ OMIM:610128 a owl:Class ; PMID:29514872 ; RO:0002525 CHR:9606chr12q23.3 ; RO:0003303 OMIM:618167 ; - oboInOwl:hasDbXref UMLS:C1424960 ; oboInOwl:hasExactSynonym "CHST11", "c4st", "carbohydrate sulfotransferase 11", "chondroitin 4-sulfotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50515 ; - skos:exactMatch HGNC_symbol:CHST11 ; + skos:exactMatch UMLS:C1424960, + HGNC:17422, + HGNC_symbol:CHST11 ; biolink:category biolink:Gene . OMIM:610129 a owl:Class ; rdfs:label "CHST12" ; IAO:0000142 PMID:10781601 ; - oboInOwl:hasDbXref UMLS:C1424961 ; oboInOwl:hasExactSynonym "CHST12", "carbohydrate sulfotransferase 12", "chondroitin 4-sulfotransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55501 ; - skos:exactMatch HGNC_symbol:CHST12 ; + skos:exactMatch UMLS:C1424961, + HGNC:17423, + HGNC_symbol:CHST12 ; biolink:category biolink:Gene . OMIM:610130 a owl:Class ; @@ -275242,13 +285895,14 @@ OMIM:610130 a owl:Class ; PMID:27210743 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:167030 ; - oboInOwl:hasDbXref UMLS:C1420161 ; oboInOwl:hasExactSynonym "SLC26A1", "solute carrier family 26 (sulfate transporter), member 1", "sulfate anion transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10861 ; - skos:exactMatch HGNC_symbol:SLC26A1 ; + skos:exactMatch UMLS:C1420161, + HGNC:10993, + HGNC_symbol:SLC26A1 ; biolink:category biolink:Gene . OMIM:610132 a owl:Class ; @@ -275265,28 +285919,30 @@ OMIM:610132 a owl:Class ; PMID:25068569 ; RO:0002525 CHR:9606chr1p13.1 ; RO:0003303 OMIM:182940 ; - oboInOwl:hasDbXref UMLS:C1423542 ; oboInOwl:hasExactSynonym "VANGL1", "strabismus, drosophila, homolog of, 2", "vang-like 1", "vangl planar cell polarity protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81839 ; - skos:exactMatch HGNC_symbol:VANGL1 ; + skos:exactMatch UMLS:C1423542, + HGNC:15512, + HGNC_symbol:VANGL1 ; biolink:category biolink:Gene . OMIM:610133 a owl:Class ; rdfs:label "ST6GALNAC3" ; IAO:0000142 PMID:10207017, PMID:16169874 ; - oboInOwl:hasDbXref UMLS:C1539869 ; oboInOwl:hasExactSynonym "ST6GALNAC3", "sialyltransferase 7c", "st6 alpha-n-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-n-acetylgalactosaminide alpha-2,6-sialyltransferase 3", "st6galnac 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256435 ; - skos:exactMatch HGNC_symbol:ST6GALNAC3 ; + skos:exactMatch UMLS:C1539869, + HGNC:19343, + HGNC_symbol:ST6GALNAC3 ; biolink:category biolink:Gene . OMIM:610134 a owl:Class ; @@ -275294,42 +285950,43 @@ OMIM:610134 a owl:Class ; IAO:0000142 PMID:10521438, PMID:12668675, PMID:19421193 ; - oboInOwl:hasDbXref UMLS:C1539871 ; oboInOwl:hasExactSynonym "ST6GALNAC5", "sialyltransferase 7e", "st6 alpha-n-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-n-acetylgalactosaminide alpha-2,6-sialyltransferase 5", "st6galnac 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81849 ; - skos:exactMatch HGNC_symbol:ST6GALNAC5 ; + skos:exactMatch UMLS:C1539871, + HGNC:19342, + HGNC_symbol:ST6GALNAC5 ; biolink:category biolink:Gene . OMIM:610135 a owl:Class ; rdfs:label "ST6GALNAC6" ; IAO:0000142 PMID:10702226, PMID:12668675 ; - oboInOwl:hasDbXref UMLS:C1539872 ; oboInOwl:hasExactSynonym "ST6GALNAC6", "sialyltransferase 7f", "st6 alpha-n-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-n-acetylgalactosaminide alpha-2,6-sialyltransferase 6", "st6galnac 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30815 ; - skos:exactMatch HGNC_symbol:ST6GALNAC6 ; + skos:exactMatch UMLS:C1539872, + HGNC:23364, + HGNC_symbol:ST6GALNAC6 ; biolink:category biolink:Gene . OMIM:610136 a owl:Class ; rdfs:label "devriendt syndrome" ; IAO:0000142 PMID:10826622, PMID:15602088 ; - oboInOwl:hasDbXref UMLS:C1857830 ; - oboInOwl:hasExactSynonym "devriendt syndrome" . + oboInOwl:hasExactSynonym "devriendt syndrome" ; + skos:exactMatch UMLS:C1857830 . OMIM:610137 a owl:Class ; rdfs:label "ST6GALNAC2" ; IAO:0000142 PMID:10742600, PMID:11984005 ; - oboInOwl:hasDbXref UMLS:C1539868 ; oboInOwl:hasExactSynonym "ST6GALNAC2", "sialyltransferase 7b", "sialyltransferase-like 1", @@ -275337,14 +285994,15 @@ OMIM:610137 a owl:Class ; "st6galnac 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10610 ; - skos:exactMatch HGNC_symbol:ST6GALNAC2 ; + skos:exactMatch UMLS:C1539868, + HGNC:10867, + HGNC_symbol:ST6GALNAC2 ; biolink:category biolink:Gene . OMIM:610138 a owl:Class ; rdfs:label "ST6GALNAC1" ; IAO:0000142 PMID:10536037, PMID:16319059 ; - oboInOwl:hasDbXref UMLS:C1539867 ; oboInOwl:hasExactSynonym "ST6GALNAC1", "sialyltransferase 7a", "st6 alpha-n-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-n-acetylgalactosaminide alpha-2,6-sialyltransferase 1", @@ -275352,14 +286010,15 @@ OMIM:610138 a owl:Class ; "styi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55808 ; - skos:exactMatch HGNC_symbol:ST6GALNAC1 ; + skos:exactMatch UMLS:C1539867, + HGNC:23614, + HGNC_symbol:ST6GALNAC1 ; biolink:category biolink:Gene . OMIM:610139 a owl:Class ; rdfs:label "ST8SIA6" ; IAO:0000142 PMID:11980897, PMID:16120058 ; - oboInOwl:hasDbXref UMLS:C1539878 ; oboInOwl:hasExactSynonym "ST8SIA6", "alpha-2,8-sialyltransferase 6", "sialyltransferase 8f", @@ -275367,7 +286026,9 @@ OMIM:610139 a owl:Class ; "st8sia 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338596 ; - skos:exactMatch HGNC_symbol:ST8SIA6 ; + skos:exactMatch UMLS:C1539878, + HGNC:23317, + HGNC_symbol:ST8SIA6 ; biolink:category biolink:Gene . OMIM:610140 a owl:Class ; @@ -275375,8 +286036,8 @@ OMIM:610140 a owl:Class ; IAO:0000142 PMID:15996213, PMID:18611980, PMID:27723096 ; - oboInOwl:hasDbXref UMLS:C1857829 ; oboInOwl:hasExactSynonym "heart-hand syndrome, slovenian iia" ; + skos:exactMatch UMLS:C1857829 ; biolink:category biolink:Disease . OMIM:610142 a owl:Class ; @@ -275409,7 +286070,6 @@ OMIM:610142 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr12q21.32 ; RO:0003303 OMIM:610189 ; - oboInOwl:hasDbXref UMLS:C1824725 ; oboInOwl:hasExactSynonym "CEP290", "antigen identified by monoclonal antibody 3h11", "bbs14 gene", @@ -275418,20 +286078,23 @@ OMIM:610142 a owl:Class ; "nephrocystin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80184 ; - skos:exactMatch HGNC_symbol:CEP290 ; + skos:exactMatch UMLS:C1824725, + HGNC:29021, + HGNC_symbol:CEP290 ; biolink:category biolink:Gene . OMIM:610144 a owl:Class ; rdfs:label "TBC1D3B" ; IAO:0000142 PMID:12359748, PMID:16863688 ; - oboInOwl:hasDbXref UMLS:C1823231 ; oboInOwl:hasExactSynonym "TBC1D3B", "prostate cancer gene 17", "tbc1 domain family, member 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:414059 ; - skos:exactMatch HGNC_symbol:TBC1D3B ; + skos:exactMatch UMLS:C1823231, + HGNC:27011, + HGNC_symbol:TBC1D3B ; biolink:category biolink:Gene . OMIM:610145 a owl:Class ; @@ -275440,27 +286103,29 @@ OMIM:610145 a owl:Class ; PMID:12464614, PMID:16009335, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1421917 ; oboInOwl:hasExactSynonym "ECE2", "endothelin-converting enzyme 2", "kiaa0604" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9718 ; - skos:exactMatch HGNC_symbol:ECE2 ; + skos:exactMatch UMLS:C1421917, + HGNC:13275, + HGNC_symbol:ECE2 ; biolink:category biolink:Gene . OMIM:610146 a owl:Class ; rdfs:label "IGF2AS" ; IAO:0000142 PMID:10731720, PMID:12702581 ; - oboInOwl:hasDbXref UMLS:C1422385 ; oboInOwl:hasExactSynonym "IGF2AS", "igf2, antisense", "insulin-like growth factor ii, antisense", "peg8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51214 ; - skos:exactMatch HGNC_symbol:IGF2-AS ; + skos:exactMatch UMLS:C1422385, + HGNC:14062, + HGNC_symbol:IGF2-AS ; biolink:category biolink:Gene . OMIM:610147 a owl:Class ; @@ -275468,14 +286133,15 @@ OMIM:610147 a owl:Class ; IAO:0000142 PMID:12419312, PMID:16400329, PMID:23566200 ; - oboInOwl:hasDbXref UMLS:C1426330 ; oboInOwl:hasExactSynonym "GPBAR1", "bg37", "g protein-coupled bile acid receptor 1", "tgr5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151306 ; - skos:exactMatch HGNC_symbol:GPBAR1 ; + skos:exactMatch UMLS:C1426330, + HGNC:19680, + HGNC_symbol:GPBAR1 ; biolink:category biolink:Gene . OMIM:610148 a owl:Class ; @@ -275487,14 +286153,15 @@ OMIM:610148 a owl:Class ; PMID:20805367 ; RO:0002525 CHR:9606chr12q21.2 ; RO:0003303 OMIM:615987 ; - oboInOwl:hasDbXref UMLS:C1826413 ; oboInOwl:hasExactSynonym "BBS10", "bbs10 gene", "chromosome 12 open reading frame 58", "flj23560" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79738 ; - skos:exactMatch HGNC_symbol:BBS10 ; + skos:exactMatch UMLS:C1826413, + HGNC:26291, + HGNC_symbol:BBS10 ; biolink:category biolink:Gene . OMIM:610150 a owl:Class ; @@ -275506,7 +286173,6 @@ OMIM:610150 a owl:Class ; PMID:9250675 ; RO:0002525 CHR:9606chr5p15.2 ; RO:0003303 OMIM:256840 ; - oboInOwl:hasDbXref UMLS:C1413197 ; oboInOwl:hasExactSynonym "CCT5", "cct-epsilon", "chaperonin containing t-complex polypeptide 1, subunit 5", @@ -275514,19 +286180,22 @@ OMIM:610150 a owl:Class ; "kiaa0098" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22948 ; - skos:exactMatch HGNC_symbol:CCT5 ; + skos:exactMatch UMLS:C1413197, + HGNC:1618, + HGNC_symbol:CCT5 ; biolink:category biolink:Gene . OMIM:610151 a owl:Class ; rdfs:label "METAP1" ; IAO:0000142 PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1423731 ; oboInOwl:hasExactSynonym "METAP1", "kiaa0094", "methionyl aminopeptidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23173 ; - skos:exactMatch HGNC_symbol:METAP1 ; + skos:exactMatch UMLS:C1423731, + HGNC:15789, + HGNC_symbol:METAP1 ; biolink:category biolink:Gene . OMIM:610152 a owl:Class ; @@ -275535,13 +286204,14 @@ OMIM:610152 a owl:Class ; PMID:16391015, PMID:16622419, PMID:16622420 ; - oboInOwl:hasDbXref UMLS:C1876178 ; oboInOwl:hasExactSynonym "CENPM", "centromeric protein m", "proliferation-associated nuclear element 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79019 ; - skos:exactMatch HGNC_symbol:CENPM ; + skos:exactMatch UMLS:C1876178, + HGNC:18352, + HGNC_symbol:CENPM ; biolink:category biolink:Gene . OMIM:610155 a owl:Class ; @@ -275550,56 +286220,59 @@ OMIM:610155 a owl:Class ; PMID:18927125, PMID:19264985 ; RO:0002525 CHR:9606chr2q24.3 ; - oboInOwl:hasDbXref UMLS:C1857808 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 19", "T1D19", "diabetes mellitus, insulin-dependent, 19" ; + skos:exactMatch UMLS:C1857808 ; biolink:category biolink:Disease . OMIM:610157 a owl:Class ; rdfs:label "heat-shock RNA 1" ; IAO:0000142 PMID:16554823, PMID:20040589 ; - oboInOwl:hasDbXref UMLS:C1857801 ; oboInOwl:hasExactSynonym "heat-shock RNA 1", - "hsr1" . + "hsr1" ; + skos:exactMatch UMLS:C1857801 . OMIM:610159 a owl:Class ; rdfs:label "ZNF366" ; IAO:0000142 PMID:12234665, PMID:16393996 ; - oboInOwl:hasDbXref UMLS:C1425443 ; oboInOwl:hasExactSynonym "ZNF366", "dendritic cell-specific transcript", "zinc finger protein 366" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:167465 ; - skos:exactMatch HGNC_symbol:ZNF366 ; + skos:exactMatch UMLS:C1425443, + HGNC:18316, + HGNC_symbol:ZNF366 ; biolink:category biolink:Gene . OMIM:610160 a owl:Class ; rdfs:label "ZNF367" ; IAO:0000142 PMID:12234665, PMID:15344908 ; - oboInOwl:hasDbXref UMLS:C1425447 ; oboInOwl:hasExactSynonym "ZNF367", "zinc finger protein 367", "zinc finger protein of fetal liver erythroid cells 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:195828 ; - skos:exactMatch HGNC_symbol:ZNF367 ; + skos:exactMatch UMLS:C1425447, + HGNC:18320, + HGNC_symbol:ZNF367 ; biolink:category biolink:Gene . OMIM:610161 a owl:Class ; rdfs:label "TFAP2D" ; IAO:0000142 PMID:11733187 ; - oboInOwl:hasDbXref UMLS:C1539951 ; oboInOwl:hasExactSynonym "TFAP2D", "tfap2bl1", "transcription factor ap2-delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83741 ; - skos:exactMatch HGNC_symbol:TFAP2D ; + skos:exactMatch UMLS:C1539951, + HGNC:15581, + HGNC_symbol:TFAP2D ; biolink:category biolink:Gene . OMIM:610162 a owl:Class ; @@ -275609,13 +286282,14 @@ OMIM:610162 a owl:Class ; PMID:23015189 ; RO:0002525 CHR:9606chr1p35.2 ; RO:0003303 OMIM:209900 ; - oboInOwl:hasDbXref UMLS:C1824554 ; oboInOwl:hasExactSynonym "CCDC28B", "coiled-coil domain-containing protein 28b", "mgc1203" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79140 ; - skos:exactMatch HGNC_symbol:CCDC28B ; + skos:exactMatch UMLS:C1824554, + HGNC:28163, + HGNC_symbol:CCDC28B ; biolink:category biolink:Gene . OMIM:610164 a owl:Class ; @@ -275624,23 +286298,25 @@ OMIM:610164 a owl:Class ; PMID:16421561, PMID:18806776, PMID:20622856 ; - oboInOwl:hasDbXref UMLS:C1537785 ; oboInOwl:hasExactSynonym "MIRN134", "micro RNA 134" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406924 ; - skos:exactMatch HGNC_symbol:MIR134 ; + skos:exactMatch UMLS:C1537785, + HGNC:31519, + HGNC_symbol:MIR134 ; biolink:category biolink:Gene . OMIM:610165 a owl:Class ; rdfs:label "GTDC1" ; IAO:0000142 PMID:15068588 ; - oboInOwl:hasDbXref UMLS:C1539622 ; oboInOwl:hasExactSynonym "GTDC1", "glycosyltransferase-like domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79712 ; - skos:exactMatch HGNC_symbol:GTDC1 ; + skos:exactMatch UMLS:C1539622, + HGNC:20887, + HGNC_symbol:GTDC1 ; biolink:category biolink:Gene . OMIM:610166 a owl:Class ; @@ -275652,7 +286328,6 @@ OMIM:610166 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr3p25.2-p25.1 ; RO:0003303 OMIM:618687 ; - oboInOwl:hasDbXref UMLS:C1537418 ; oboInOwl:hasExactSynonym "IQSEC1", "adp-ribosylation factor guanine nucleotide exchange protein, 100-kd", "iq motif- and sec7 domain-containing protein 1", @@ -275660,19 +286335,22 @@ OMIM:610166 a owl:Class ; "loner, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9922 ; - skos:exactMatch HGNC_symbol:IQSEC1 ; + skos:exactMatch UMLS:C1537418, + HGNC:29112, + HGNC_symbol:IQSEC1 ; biolink:category biolink:Gene . OMIM:610167 a owl:Class ; rdfs:label "PHPT1" ; IAO:0000142 PMID:12383260 ; - oboInOwl:hasDbXref UMLS:C1428922 ; oboInOwl:hasExactSynonym "PHPT1", "phosphohistidine phosphatase 1", "sex-regulated protein janus-a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29085 ; - skos:exactMatch HGNC_symbol:PHPT1 ; + skos:exactMatch UMLS:C1428922, + HGNC:30033, + HGNC_symbol:PHPT1 ; biolink:category biolink:Gene . OMIM:610169 a owl:Class ; @@ -275685,7 +286363,6 @@ OMIM:610169 a owl:Class ; PMID:25312759, PMID:26975355, PMID:29643506 ; - oboInOwl:hasDbXref UMLS:C1857796 ; oboInOwl:hasExactSynonym "INO80", "ino80 complex homolog 1", "ino80 complex, atpase subunit", @@ -275694,19 +286371,22 @@ OMIM:610169 a owl:Class ; "ino80, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54617 ; - skos:exactMatch HGNC_symbol:INO80 ; + skos:exactMatch UMLS:C1857796, + HGNC:26956, + HGNC_symbol:INO80 ; biolink:category biolink:Gene . OMIM:610171 a owl:Class ; rdfs:label "CALML6" ; IAO:0000142 PMID:15621662 ; - oboInOwl:hasDbXref UMLS:C1538433 ; oboInOwl:hasExactSynonym "CALML6", "calglandulin-like protein", "calmodulin-like 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163688 ; - skos:exactMatch HGNC_symbol:CALML6 ; + skos:exactMatch UMLS:C1538433, + HGNC:24193, + HGNC_symbol:CALML6 ; biolink:category biolink:Gene . OMIM:610172 a owl:Class ; @@ -275722,8 +286402,6 @@ OMIM:610172 a owl:Class ; PMID:31278745 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:618751 ; - oboInOwl:hasDbXref UMLS:C1857794, - UMLS:C5231490 ; oboInOwl:hasExactSynonym "SPEF2", "flj23577", "kiaa1770", @@ -275731,7 +286409,10 @@ OMIM:610172 a owl:Class ; "sperm flagellar protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79925 ; - skos:exactMatch HGNC_symbol:SPEF2 ; + skos:exactMatch UMLS:C1857794, + UMLS:C5231490, + HGNC:26293, + HGNC_symbol:SPEF2 ; biolink:category biolink:Gene . OMIM:610173 a owl:Class ; @@ -275739,27 +286420,29 @@ OMIM:610173 a owl:Class ; IAO:0000142 PMID:16549775, PMID:18308931, PMID:18498749 ; - oboInOwl:hasDbXref UMLS:C1537707 ; oboInOwl:hasExactSynonym "MIR10A", "micro RNA 10a", "mirn10a", "mirna10a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406902 ; - skos:exactMatch HGNC_symbol:MIR10A ; + skos:exactMatch UMLS:C1537707, + HGNC:31497, + HGNC_symbol:MIR10A ; biolink:category biolink:Gene . OMIM:610174 a owl:Class ; rdfs:label "UBTD2" ; IAO:0000142 PMID:12507522 ; - oboInOwl:hasDbXref UMLS:C1823583 ; oboInOwl:hasExactSynonym "UBTD2", "dendritic cell ubiquitin-like protein", "mgc30022", "ubiquitin domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92181 ; - skos:exactMatch HGNC_symbol:UBTD2 ; + skos:exactMatch UMLS:C1823583, + HGNC:24463, + HGNC_symbol:UBTD2 ; biolink:category biolink:Gene . OMIM:610175 a owl:Class ; @@ -275768,14 +286451,15 @@ OMIM:610175 a owl:Class ; PMID:16549775, PMID:17855557, PMID:17957028 ; - oboInOwl:hasDbXref UMLS:C1537779 ; oboInOwl:hasExactSynonym "MIR130A", "micro RNA 130a", "mirn130a", "mirna130a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406919 ; - skos:exactMatch HGNC_symbol:MIR130A ; + skos:exactMatch UMLS:C1537779, + HGNC:31514, + HGNC_symbol:MIR130A ; biolink:category biolink:Gene . OMIM:610176 a owl:Class ; @@ -275783,25 +286467,27 @@ OMIM:610176 a owl:Class ; IAO:0000142 PMID:12406855, PMID:1915264, PMID:22155607 ; - oboInOwl:hasDbXref UMLS:C1539731 ; oboInOwl:hasExactSynonym "SCGB1C1", "ryd5, rat, homolog of", "secretoglobin, family 1c, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147199 ; - skos:exactMatch HGNC_symbol:SCGB1C1 ; + skos:exactMatch UMLS:C1539731, + HGNC:18394, + HGNC_symbol:SCGB1C1 ; biolink:category biolink:Gene . OMIM:610177 a owl:Class ; rdfs:label "AEN" ; IAO:0000142 PMID:16171785 ; - oboInOwl:hasDbXref UMLS:C1825622 ; oboInOwl:hasExactSynonym "AEN", "apoptosis-enhancing nuclease", "interferon-stimulated exonuclease gene 20-kd-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64782 ; - skos:exactMatch HGNC_symbol:AEN ; + skos:exactMatch UMLS:C1825622, + HGNC:25722, + HGNC_symbol:AEN ; biolink:category biolink:Gene . OMIM:610178 a owl:Class ; @@ -275812,59 +286498,62 @@ OMIM:610178 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr14q23.1 ; RO:0003303 OMIM:616546 ; - oboInOwl:hasDbXref UMLS:C1426562 ; oboInOwl:hasExactSynonym "KIAA0586", "kiaa0586 gene", "talpid 3, chicken, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9786 ; - skos:exactMatch HGNC_symbol:KIAA0586 ; + skos:exactMatch UMLS:C1426562, + HGNC:19960, + HGNC_symbol:KIAA0586 ; biolink:category biolink:Gene . OMIM:610179 a owl:Class ; rdfs:label "PLB1" ; IAO:0000142 PMID:12150957 ; - oboInOwl:hasDbXref UMLS:C1428925 ; oboInOwl:hasExactSynonym "PLB1", "flj30866", "phospholipase b1", "plb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151056 ; - skos:exactMatch HGNC_symbol:PLB1 ; + skos:exactMatch UMLS:C1428925, + HGNC:30041, + HGNC_symbol:PLB1 ; biolink:category biolink:Gene . OMIM:610180 a owl:Class ; rdfs:label "OSTF1" ; IAO:0000142 PMID:10092216, PMID:10773673 ; - oboInOwl:hasDbXref UMLS:C1418192 ; oboInOwl:hasExactSynonym "OSTF1", "osf", "osteoclast-stimulating factor 1", "sh3p2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26578 ; - skos:exactMatch HGNC_symbol:OSTF1 ; + skos:exactMatch UMLS:C1418192, + HGNC:8510, + HGNC_symbol:OSTF1 ; biolink:category biolink:Gene . OMIM:610182 a owl:Class ; rdfs:label "PALMD" ; IAO:0000142 PMID:11478809, PMID:11707320 ; - oboInOwl:hasDbXref UMLS:C1423769 ; oboInOwl:hasExactSynonym "PALMD", "palmdelphin", "paralemmin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54873 ; - skos:exactMatch HGNC_symbol:PALMD ; + skos:exactMatch UMLS:C1423769, + HGNC:15846, + HGNC_symbol:PALMD ; biolink:category biolink:Gene . OMIM:610183 a owl:Class ; rdfs:label "ZFAND6" ; IAO:0000142 PMID:11054541 ; - oboInOwl:hasDbXref UMLS:C1857793 ; oboInOwl:hasExactSynonym "ZFAND6", "a20-type zinc finger domain-containing protein 3", "an1-type zinc finger domain-containing protein 6", @@ -275873,21 +286562,24 @@ OMIM:610183 a owl:Class ; "zinc finger an1 domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54469 ; - skos:exactMatch HGNC_symbol:ZFAND6 ; + skos:exactMatch UMLS:C1857793, + HGNC:30164, + HGNC_symbol:ZFAND6 ; biolink:category biolink:Gene . OMIM:610184 a owl:Class ; rdfs:label "MOGAT3" ; IAO:0000142 PMID:12618427, PMID:15671038 ; - oboInOwl:hasDbXref UMLS:C1537932 ; oboInOwl:hasExactSynonym "MOGAT3", "acyl-coa:monoacylglycerol acyltransferase 3", "mgat3", "monoacylglycerol o-acyltransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:346606 ; - skos:exactMatch HGNC_symbol:MOGAT3 ; + skos:exactMatch UMLS:C1537932, + HGNC:23249, + HGNC_symbol:MOGAT3 ; biolink:category biolink:Gene . OMIM:610185 a owl:Class ; @@ -275902,23 +286594,24 @@ OMIM:610185 a owl:Class ; PMID:21885617, PMID:25558065, PMID:26437881 ; - oboInOwl:hasDbXref UMLS:C2750234 ; oboInOwl:hasExactSynonym "CAMRQ2", "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2", "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" ; rdfs:subClassOf OMIMPS:224050 ; + skos:exactMatch UMLS:C2750234 ; biolink:category biolink:Disease . OMIM:610186 a owl:Class ; rdfs:label "USP17L2" ; IAO:0000142 PMID:14699124 ; - oboInOwl:hasDbXref UMLS:C1857782 ; oboInOwl:hasExactSynonym "USP17L2", "deubiquitinating enzyme 3", "ubiquitin-specific peptidase 17-like family member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:377630 ; - skos:exactMatch HGNC_symbol:USP17L2 ; + skos:exactMatch UMLS:C1857782, + HGNC:34434, + HGNC_symbol:USP17L2 ; biolink:category biolink:Gene . OMIM:610187 a owl:Class ; @@ -275928,9 +286621,9 @@ OMIM:610187 a owl:Class ; PMID:21525063, PMID:24702427, PMID:7815446 ; - oboInOwl:hasDbXref UMLS:C1857781 ; oboInOwl:hasExactSynonym "DIH3", "diaphragmatic hernia 3" ; + skos:exactMatch UMLS:C1857781 ; biolink:category biolink:Disease . OMIM:610188 a owl:Class ; @@ -275941,10 +286634,10 @@ OMIM:610188 a owl:Class ; PMID:16682970, PMID:16682973, PMID:26092869 ; - oboInOwl:hasDbXref UMLS:C1857780 ; oboInOwl:hasExactSynonym "JBTS5", "joubert syndrome 5" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C1857780 ; biolink:category biolink:Disease . OMIM:610190 a owl:Class ; @@ -275956,7 +286649,6 @@ OMIM:610190 a owl:Class ; PMID:22289416 ; RO:0002525 CHR:9606chr19q13.11 ; RO:0003303 OMIM:616265 ; - oboInOwl:hasDbXref UMLS:C1423894 ; oboInOwl:hasExactSynonym "CHST8", "carbohydrate sulfotransferase 8", "galnac4 sulfotransferase 1", @@ -275964,21 +286656,24 @@ OMIM:610190 a owl:Class ; "n-acetylgalactosamine-4-o-sulfotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64377 ; - skos:exactMatch HGNC_symbol:CHST8 ; + skos:exactMatch UMLS:C1423894, + HGNC:15993, + HGNC_symbol:CHST8 ; biolink:category biolink:Gene . OMIM:610191 a owl:Class ; rdfs:label "CHST9" ; IAO:0000142 PMID:11139592, PMID:11445554 ; - oboInOwl:hasDbXref UMLS:C1426513 ; oboInOwl:hasExactSynonym "CHST9", "carbohydrate sulfotransferase 9", "galnac4 sulfotransferase 2", "n-acetylgalactosamine-4-o-sulfotransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83539 ; - skos:exactMatch HGNC_symbol:CHST9 ; + skos:exactMatch UMLS:C1426513, + HGNC:19898, + HGNC_symbol:CHST9 ; biolink:category biolink:Gene . OMIM:610192 a owl:Class ; @@ -275992,14 +286687,15 @@ OMIM:610192 a owl:Class ; PMID:26259131 ; RO:0002525 CHR:9606chr9p24.2 ; RO:0003303 OMIM:610199 ; - oboInOwl:hasDbXref UMLS:C1539574 ; oboInOwl:hasExactSynonym "GLIS3", "gli-similar protein 3", "glis family zinc finger protein 3", "zinc finger protein 515" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:169792 ; - skos:exactMatch HGNC_symbol:GLIS3 ; + skos:exactMatch UMLS:C1539574, + HGNC:28510, + HGNC_symbol:GLIS3 ; biolink:category biolink:Gene . OMIM:610193 a owl:Class ; @@ -276007,11 +286703,11 @@ OMIM:610193 a owl:Class ; IAO:0000142 PMID:16505173, PMID:16773573, PMID:17105751 ; - oboInOwl:hasDbXref UMLS:C1857777 ; oboInOwl:hasExactSynonym "ARVD10", "arrhythmogenic right ventricular cardiomyopathy 10", "arrhythmogenic right ventricular dysplasia, familial, 10" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1857777 ; biolink:category biolink:Disease . OMIM:610194 a owl:Class ; @@ -276021,7 +286717,6 @@ OMIM:610194 a owl:Class ; PMID:23929950 ; RO:0002525 CHR:9606chr1q42.3 ; RO:0003303 OMIM:615181 ; - oboInOwl:hasDbXref UMLS:C1538312 ; oboInOwl:hasExactSynonym "B3GALNT2", "b3galnac-t2", "beta-1,3-n-acetylgalactosaminyltransferase 2", @@ -276029,7 +286724,9 @@ OMIM:610194 a owl:Class ; "udp-galnac:beta-glcnac-beta-1,3-galactosaminyltransferase, polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148789 ; - skos:exactMatch HGNC_symbol:B3GALNT2 ; + skos:exactMatch UMLS:C1538312, + HGNC:28596, + HGNC_symbol:B3GALNT2 ; biolink:category biolink:Gene . OMIM:610195 a owl:Class ; @@ -276037,14 +286734,15 @@ OMIM:610195 a owl:Class ; IAO:0000142 PMID:11313889, PMID:12598323, PMID:15713644 ; - oboInOwl:hasDbXref UMLS:C1419088 ; oboInOwl:hasExactSynonym "PTOV1", "activator interaction domain-containing protein 2", "prostate tumor overexpressed gene 1", "ptov1 extended at-hook-containing adaptor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53635 ; - skos:exactMatch HGNC_symbol:PTOV1 ; + skos:exactMatch UMLS:C1419088, + HGNC:9632, + HGNC_symbol:PTOV1 ; biolink:category biolink:Gene . OMIM:610196 a owl:Class ; @@ -276052,12 +286750,13 @@ OMIM:610196 a owl:Class ; IAO:0000142 PMID:12477932, PMID:16773575, PMID:17452337 ; - oboInOwl:hasDbXref UMLS:C1539354 ; oboInOwl:hasExactSynonym "ELMOD2", "elmo/ced12 domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255520 ; - skos:exactMatch HGNC_symbol:ELMOD2 ; + skos:exactMatch UMLS:C1539354, + HGNC:28111, + HGNC_symbol:ELMOD2 ; biolink:category biolink:Gene . OMIM:610197 a owl:Class ; @@ -276072,10 +286771,6 @@ OMIM:610197 a owl:Class ; PMID:30039206 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:616449 ; - oboInOwl:hasDbXref UMLS:C1537681, - UMLS:C2986382, - UMLS:C4015968, - UMLS:C4225323 ; oboInOwl:hasExactSynonym "MED25", "activator interaction domain-containing protein 1", "activator-recruited cofactor, 92-kd", @@ -276085,7 +286780,12 @@ OMIM:610197 a owl:Class ; "prostate tumor overexpressed gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81857 ; - skos:exactMatch HGNC_symbol:MED25 ; + skos:exactMatch UMLS:C1537681, + UMLS:C2986382, + UMLS:C4015968, + UMLS:C4225323, + HGNC:28845, + HGNC_symbol:MED25 ; biolink:category biolink:Gene . OMIM:610200 a owl:Class ; @@ -276094,59 +286794,61 @@ OMIM:610200 a owl:Class ; PMID:1282492, PMID:14567916, PMID:17218275 ; - oboInOwl:hasDbXref UMLS:C1422537 ; oboInOwl:hasExactSynonym "MRPL13", "l13a", "mitochondrial ribosomal protein l13", "ribosomal protein, mitochondrial, l13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28998 ; - skos:exactMatch HGNC_symbol:MRPL13 ; + skos:exactMatch UMLS:C1422537, + HGNC:14278, + HGNC_symbol:MRPL13 ; biolink:category biolink:Gene . OMIM:610201 a owl:Class ; rdfs:label "CEP162" ; IAO:0000142 PMID:10231032, PMID:16302001 ; - oboInOwl:hasDbXref UMLS:C1825676 ; oboInOwl:hasExactSynonym "CEP162", "centrosomal protein, 162-kd", "kiaa1009", "qn1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22832 ; - skos:exactMatch HGNC_symbol:CEP162 ; + skos:exactMatch UMLS:C1825676, + HGNC:21107, + HGNC_symbol:CEP162 ; biolink:category biolink:Gene . OMIM:610203 a owl:Class ; rdfs:label "CRIPAK" ; IAO:0000142 PMID:16278681 ; - oboInOwl:hasDbXref UMLS:C1824792 ; oboInOwl:hasExactSynonym "CRIPAK", "cysteine-rich inhibitor of pak1", "flj34443" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1824792 ; biolink:category biolink:Gene . OMIM:610204 a owl:Class ; rdfs:label "pontocerebellar hypoplasia, iia 5" ; IAO:0000142 PMID:16470708, PMID:21368912 ; - oboInOwl:hasDbXref UMLS:C1857762 ; oboInOwl:hasExactSynonym "PCH5", "olivopontocerebellar hypoplasia, fetal-onset", "pontocerebellar hypoplasia, iia 5" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C1857762 ; biolink:category biolink:Disease . OMIM:610205 a owl:Class ; rdfs:label "alagille syndrome 2" ; IAO:0000142 PMID:11171333, PMID:16773578 ; - oboInOwl:hasDbXref UMLS:C1857761 ; oboInOwl:hasExactSynonym "ALGS2", "alagille syndrome 2" ; rdfs:subClassOf OMIMPS:118450 ; + skos:exactMatch UMLS:C1857761 ; biolink:category biolink:Disease . OMIM:610206 a owl:Class ; @@ -276161,27 +286863,29 @@ OMIM:610206 a owl:Class ; PMID:22072594 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:217700 ; - oboInOwl:hasDbXref UMLS:C1424279 ; oboInOwl:hasExactSynonym "SLC4A11", "bicarbonate transporter-related protein 1", "sodium-coupled borate cotransporter 1", "solute carrier family 4 (sodium borate cotransporter), member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83959 ; - skos:exactMatch HGNC_symbol:SLC4A11 ; + skos:exactMatch UMLS:C1424279, + HGNC:16438, + HGNC_symbol:SLC4A11 ; biolink:category biolink:Gene . OMIM:610207 a owl:Class ; rdfs:label "SLC4A9" ; IAO:0000142 PMID:11302728, PMID:11305939 ; - oboInOwl:hasDbXref UMLS:C1420199 ; oboInOwl:hasExactSynonym "SLC4A9", "anion exchange protein 4", "solute carrier family 4 (anion exchanger), member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83697 ; - skos:exactMatch HGNC_symbol:SLC4A9 ; + skos:exactMatch UMLS:C1420199, + HGNC:11035, + HGNC_symbol:SLC4A9 ; biolink:category biolink:Gene . OMIM:610210 a owl:Class ; @@ -276193,36 +286897,38 @@ OMIM:610210 a owl:Class ; PMID:17205138, PMID:17499043, PMID:20887893 ; - oboInOwl:hasDbXref UMLS:C1825934 ; oboInOwl:hasExactSynonym "MAF1", "maf1 homolog, negative regulator of RNA polymerase 3", "maf1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84232 ; - skos:exactMatch HGNC_symbol:MAF1 ; + skos:exactMatch UMLS:C1825934, + HGNC:24966, + HGNC_symbol:MAF1 ; biolink:category biolink:Gene . OMIM:610211 a owl:Class ; rdfs:label "SLIRP" ; IAO:0000142 PMID:16762838, PMID:20200222 ; - oboInOwl:hasDbXref UMLS:C1539044 ; oboInOwl:hasExactSynonym "SLIRP", "chromosome 14 open reading frame 156", "sra stem loop-interacting rna-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81892 ; - skos:exactMatch HGNC_symbol:SLIRP ; + skos:exactMatch UMLS:C1539044, + HGNC:20495, + HGNC_symbol:SLIRP ; biolink:category biolink:Gene . OMIM:610212 a owl:Class ; rdfs:label "deafness, autosomal recessive 66" ; IAO:0000142 PMID:16244493, PMID:25601850 ; - oboInOwl:hasDbXref UMLS:C1857750 ; oboInOwl:hasExactSynonym "DFNB66", "deafness, autosomal recessive 66" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1857750 ; biolink:category biolink:Disease . OMIM:610214 a owl:Class ; @@ -276231,13 +286937,14 @@ OMIM:610214 a owl:Class ; PMID:16431915 ; RO:0002525 CHR:9606chr1q25.3 ; RO:0003303 OMIM:619493 ; - oboInOwl:hasDbXref UMLS:C1825029 ; oboInOwl:hasExactSynonym "EDEM3", "chromosome 1 open reading frame 22", "endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80267 ; - skos:exactMatch HGNC_symbol:EDEM3 ; + skos:exactMatch UMLS:C1825029, + HGNC:16787, + HGNC_symbol:EDEM3 ; biolink:category biolink:Gene . OMIM:610215 a owl:Class ; @@ -276248,7 +286955,6 @@ OMIM:610215 a owl:Class ; PMID:16314529, PMID:18096806, PMID:18541910 ; - oboInOwl:hasDbXref UMLS:C1857748 ; oboInOwl:hasExactSynonym "ARHGEF25", "guanine nucleotide exchange factor geft", "p63rhogef", @@ -276256,27 +286962,29 @@ OMIM:610215 a owl:Class ; "rho guanine nucleotide exchange factor 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115557 ; - skos:exactMatch HGNC_symbol:ARHGEF25 ; + skos:exactMatch UMLS:C1857748, + HGNC:30275, + HGNC_symbol:ARHGEF25 ; biolink:category biolink:Gene . OMIM:610216 a owl:Class ; rdfs:label "ANO8" ; IAO:0000142 PMID:10997877, PMID:15647853 ; - oboInOwl:hasDbXref UMLS:C1823305 ; oboInOwl:hasExactSynonym "ANO8", "anoctamin 8", "kiaa1623", "transmembrane protein 16h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57719 ; - skos:exactMatch HGNC_symbol:ANO8 ; + skos:exactMatch UMLS:C1823305, + HGNC:29329, + HGNC_symbol:ANO8 ; biolink:category biolink:Gene . OMIM:610218 a owl:Class ; rdfs:label "SAP30BP" ; IAO:0000142 PMID:15496587 ; - oboInOwl:hasDbXref UMLS:C1826974 ; oboInOwl:hasExactSynonym "SAP30BP", "hcngp", "htrg", @@ -276284,7 +286992,9 @@ OMIM:610218 a owl:Class ; "sap30-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29115 ; - skos:exactMatch HGNC_symbol:SAP30BP ; + skos:exactMatch UMLS:C1826974, + HGNC:30785, + HGNC_symbol:SAP30BP ; biolink:category biolink:Gene . OMIM:610219 a owl:Class ; @@ -276295,13 +287005,14 @@ OMIM:610219 a owl:Class ; PMID:17373699 ; RO:0002525 CHR:9606chr2q31.2 ; RO:0003303 OMIM:610220 ; - oboInOwl:hasDbXref UMLS:C1539285 ; oboInOwl:hasExactSynonym "PJVK", "dfnb59 gene", "pejvakin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494513 ; - skos:exactMatch HGNC_symbol:PJVK ; + skos:exactMatch UMLS:C1539285, + HGNC:29502, + HGNC_symbol:PJVK ; biolink:category biolink:Gene . OMIM:610221 a owl:Class ; @@ -276309,14 +287020,15 @@ OMIM:610221 a owl:Class ; IAO:0000142 PMID:12524439, PMID:14973226, PMID:17386266 ; - oboInOwl:hasDbXref UMLS:C1428707 ; oboInOwl:hasExactSynonym "AKT1S1", "akt1 substrate 1, proline-rich", "mgc2865", "proline-rich akt substrate, 40-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84335 ; - skos:exactMatch HGNC_symbol:AKT1S1 ; + skos:exactMatch UMLS:C1428707, + HGNC:28426, + HGNC_symbol:AKT1S1 ; biolink:category biolink:Gene . OMIM:610222 a owl:Class ; @@ -276329,29 +287041,31 @@ OMIM:610222 a owl:Class ; PMID:30769224 ; RO:0002525 CHR:9606chr20p11.23 ; RO:0003303 OMIM:613075 ; - oboInOwl:hasDbXref UMLS:C1425756, - UMLS:C2751321 ; oboInOwl:hasExactSynonym "RIN2", "rab5-interacting protein 2", "ras and rab interactor 2", "ras inhibitor jc265" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54453 ; - skos:exactMatch HGNC_symbol:RIN2 ; + skos:exactMatch UMLS:C1425756, + UMLS:C2751321, + HGNC:18750, + HGNC_symbol:RIN2 ; biolink:category biolink:Gene . OMIM:610223 a owl:Class ; rdfs:label "RIN3" ; IAO:0000142 PMID:12972505, PMID:21586568 ; - oboInOwl:hasDbXref UMLS:C1425757 ; oboInOwl:hasExactSynonym "RIN3", "flj22439", "rab5-interacting protein 3", "ras and rab interactor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79890 ; - skos:exactMatch HGNC_symbol:RIN3 ; + skos:exactMatch UMLS:C1425757, + HGNC:18751, + HGNC_symbol:RIN3 ; biolink:category biolink:Gene . OMIM:610224 a owl:Class ; @@ -276366,21 +287080,21 @@ OMIM:610224 a owl:Class ; PMID:28718531 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:618115 ; - oboInOwl:hasDbXref UMLS:C1853260 ; oboInOwl:hasExactSynonym "SOHLH1", "newborn ovary helix-loop-helix protein", "spermatogenesis- and oogenesis-specific basic helix-loop-helix protein 1", "teb2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402381 ; - skos:exactMatch HGNC_symbol:SOHLH1 ; + skos:exactMatch UMLS:C1853260, + HGNC:27845, + HGNC_symbol:SOHLH1 ; biolink:category biolink:Gene . OMIM:610225 a owl:Class ; rdfs:label "RPS19BP1" ; IAO:0000142 PMID:16289379, PMID:17964266 ; - oboInOwl:hasDbXref UMLS:C1826912 ; oboInOwl:hasExactSynonym "RPS19BP1", "active regulator of sirt1", "mgc52010", @@ -276388,7 +287102,9 @@ OMIM:610225 a owl:Class ; "s19bp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91582 ; - skos:exactMatch HGNC_symbol:RPS19BP1 ; + skos:exactMatch UMLS:C1826912, + HGNC:28749, + HGNC_symbol:RPS19BP1 ; biolink:category biolink:Gene . OMIM:610226 a owl:Class ; @@ -276400,38 +287116,41 @@ OMIM:610226 a owl:Class ; PMID:22922031 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:610227 ; - oboInOwl:hasDbXref UMLS:C1824035 ; oboInOwl:hasExactSynonym "ZNF750", "flj13841", "zinc finger protein 750" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79755 ; - skos:exactMatch HGNC_symbol:ZNF750 ; + skos:exactMatch UMLS:C1824035, + HGNC:25843, + HGNC_symbol:ZNF750 ; biolink:category biolink:Gene . OMIM:610228 a owl:Class ; rdfs:label "CAPN13" ; IAO:0000142 PMID:10964513, PMID:11675017 ; - oboInOwl:hasDbXref UMLS:C1539060 ; oboInOwl:hasExactSynonym "CAPN13", "calpain 13", "flj23523" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92291 ; - skos:exactMatch HGNC_symbol:CAPN13 ; + skos:exactMatch UMLS:C1539060, + HGNC:16663, + HGNC_symbol:CAPN13 ; biolink:category biolink:Gene . OMIM:610229 a owl:Class ; rdfs:label "CAPN14" ; IAO:0000142 PMID:10964513, PMID:11675017 ; - oboInOwl:hasDbXref UMLS:C1539061 ; oboInOwl:hasExactSynonym "CAPN14", "calpain 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440854 ; - skos:exactMatch HGNC_symbol:CAPN14 ; + skos:exactMatch UMLS:C1539061, + HGNC:16664, + HGNC_symbol:CAPN14 ; biolink:category biolink:Gene . OMIM:610230 a owl:Class ; @@ -276448,21 +287167,21 @@ OMIM:610230 a owl:Class ; PMID:8817331 ; RO:0002525 CHR:9606chr22q13.31 ; RO:0003303 OMIM:580000 ; - oboInOwl:hasDbXref UMLS:C1823502 ; oboInOwl:hasExactSynonym "TRMU", "mto2, s. cerevisiae, homolog of", "trna 5-methylaminomethyl-2-thiouridylate methyltransferase", "trnt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55687 ; - skos:exactMatch HGNC_symbol:TRMU ; + skos:exactMatch UMLS:C1823502, + HGNC:25481, + HGNC_symbol:TRMU ; biolink:category biolink:Gene . OMIM:610231 a owl:Class ; rdfs:label "PCGF1" ; IAO:0000142 PMID:11287196, PMID:23523425 ; - oboInOwl:hasDbXref UMLS:C1538597 ; oboInOwl:hasExactSynonym "PCGF1", "lethal(3)73ah, drosophila, homolog of", "mgc10882", @@ -276470,19 +287189,22 @@ OMIM:610231 a owl:Class ; "polycomb group ring finger protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84759 ; - skos:exactMatch HGNC_symbol:PCGF1 ; + skos:exactMatch UMLS:C1538597, + HGNC:17615, + HGNC_symbol:PCGF1 ; biolink:category biolink:Gene . OMIM:610232 a owl:Class ; rdfs:label "ATP13A3" ; IAO:0000142 PMID:11867234 ; - oboInOwl:hasDbXref UMLS:C1540216 ; oboInOwl:hasExactSynonym "ATP13A3", "atpase 13a3", "atpase family homolog upregulated 1n senescence cells" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79572 ; - skos:exactMatch HGNC_symbol:ATP13A3 ; + skos:exactMatch UMLS:C1540216, + HGNC:24113, + HGNC_symbol:ATP13A3 ; biolink:category biolink:Gene . OMIM:610233 a owl:Class ; @@ -276492,14 +287214,15 @@ OMIM:610233 a owl:Class ; OMIM:610235 a owl:Class ; rdfs:label "MTFP1" ; IAO:0000142 PMID:15155745 ; - oboInOwl:hasDbXref UMLS:C1853254 ; oboInOwl:hasExactSynonym "MTFP1", "hspc242", "mitochondrial fission process 1", "mitochondrial protein, 18-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51537 ; - skos:exactMatch HGNC_symbol:MTFP1 ; + skos:exactMatch UMLS:C1853254, + HGNC:26945, + HGNC_symbol:MTFP1 ; biolink:category biolink:Gene . OMIM:610236 a owl:Class ; @@ -276512,35 +287235,36 @@ OMIM:610236 a owl:Class ; PMID:30032983 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:618090 ; - oboInOwl:hasDbXref UMLS:C1427645 ; oboInOwl:hasExactSynonym "LNPK", "kiaa1715", "lnp1", "lunapark" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80856 ; - skos:exactMatch HGNC_symbol:LNPK ; + skos:exactMatch UMLS:C1427645, + HGNC:21610, + HGNC_symbol:LNPK ; biolink:category biolink:Gene . OMIM:610237 a owl:Class ; rdfs:label "MED30" ; IAO:0000142 PMID:11909976, PMID:20493979 ; - oboInOwl:hasDbXref UMLS:C1427864 ; oboInOwl:hasExactSynonym "MED30", "mediator complex subunit 30", "thyroid hormone receptor-associated protein 6", "thyroid hormone receptor-associated protein, 25-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90390 ; - skos:exactMatch HGNC_symbol:MED30 ; + skos:exactMatch UMLS:C1427864, + HGNC:23032, + HGNC_symbol:MED30 ; biolink:category biolink:Gene . OMIM:610238 a owl:Class ; rdfs:label "SLC5A11" ; IAO:0000142 PMID:12039040, PMID:12133831 ; - oboInOwl:hasDbXref UMLS:C1427908 ; oboInOwl:hasExactSynonym "SLC5A11", "kst1, rabbit, homolog of", "sodium myoinositol cotransporter 2", @@ -276548,40 +287272,46 @@ OMIM:610238 a owl:Class ; "solute carrier family 5 (sodium/glucose cotransporter), member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115584 ; - skos:exactMatch HGNC_symbol:SLC5A11 ; + skos:exactMatch UMLS:C1427908, + HGNC:23091, + HGNC_symbol:SLC5A11 ; biolink:category biolink:Gene . OMIM:610240 a owl:Class ; rdfs:label "LHFPL4" ; IAO:0000142 PMID:15905332 ; - oboInOwl:hasDbXref UMLS:C1416848 ; oboInOwl:hasExactSynonym "LHFPL4", "lhfp-like protein 4", "lhfpl tetraspan subfamily, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375323 ; - skos:exactMatch HGNC_symbol:LHFPL4 ; + skos:exactMatch UMLS:C1416848, + HGNC:29568, + HGNC_symbol:LHFPL4 ; biolink:category biolink:Gene . OMIM:610241 a owl:Class ; rdfs:label "RNF32" ; IAO:0000142 PMID:11890671 ; - oboInOwl:hasDbXref UMLS:C1424755 ; oboInOwl:hasExactSynonym "RNF32", "ring finger protein 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140545 ; - skos:exactMatch HGNC_symbol:RNF32 ; + skos:exactMatch UMLS:C1424755, + HGNC:17118, + HGNC_symbol:RNF32 ; biolink:category biolink:Gene . OMIM:610242 a owl:Class ; rdfs:label "C7ORF13" ; IAO:0000142 PMID:11890671 ; - oboInOwl:hasDbXref UMLS:C1424762 ; oboInOwl:hasExactSynonym "C7ORF13", "chromosome 7 open reading frame 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506380 ; + skos:exactMatch UMLS:C1424762, + HGNC:48971, + HGNC_symbol:RNF32-DT ; biolink:category biolink:Gene . OMIM:610243 a owl:Class ; @@ -276595,13 +287325,14 @@ OMIM:610243 a owl:Class ; PMID:25855459 ; RO:0002525 CHR:9606chr10q24.2 ; RO:0003303 OMIM:610244 ; - oboInOwl:hasDbXref UMLS:C1428605 ; oboInOwl:hasExactSynonym "ZFYVE27", "protrudin", "zinc finger fyve domain-containing protein 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118813 ; - skos:exactMatch HGNC_symbol:ZFYVE27 ; + skos:exactMatch UMLS:C1428605, + HGNC:26559, + HGNC_symbol:ZFYVE27 ; biolink:category biolink:Gene . OMIM:610249 a owl:Class ; @@ -276611,14 +287342,15 @@ OMIM:610249 a owl:Class ; PMID:16464857, PMID:20637190, PMID:25544610 ; - oboInOwl:hasDbXref UMLS:C1538692 ; oboInOwl:hasExactSynonym "POFUT2", "chromosome 21 open reading frame 80", "kiaa0958", "protein o-fucosyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23275 ; - skos:exactMatch HGNC_symbol:POFUT2 ; + skos:exactMatch UMLS:C1538692, + HGNC:14683, + HGNC_symbol:POFUT2 ; biolink:category biolink:Gene . OMIM:610251 a owl:Class ; @@ -276640,10 +287372,10 @@ OMIM:610251 a owl:Class ; PMID:7180842, PMID:7593603, PMID:8903321 ; - oboInOwl:hasDbXref UMLS:C2608086, - UMLS:C2674838 ; oboInOwl:hasExactSynonym "alcohol sensitivity, acute", "hangover, susceptibility to" ; + skos:exactMatch UMLS:C2608086, + UMLS:C2674838 ; biolink:category biolink:Disease . OMIM:610252 a owl:Class ; @@ -276653,14 +287385,15 @@ OMIM:610252 a owl:Class ; PMID:16731620, PMID:17397913, PMID:18093911 ; - oboInOwl:hasDbXref UMLS:C1537700 ; oboInOwl:hasExactSynonym "MIR1-2", "micro RNA 1-2", "mirn1-2", "mirna1-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406905 ; - skos:exactMatch HGNC_symbol:MIR1-2 ; + skos:exactMatch UMLS:C1537700, + HGNC:31500, + HGNC_symbol:MIR1-2 ; biolink:category biolink:Gene . OMIM:610254 a owl:Class ; @@ -276674,14 +287407,15 @@ OMIM:610254 a owl:Class ; PMID:17468766, PMID:18093911, PMID:19015276 ; - oboInOwl:hasDbXref UMLS:C1537782 ; oboInOwl:hasExactSynonym "MIR133A1", "micro RNA 133a1", "mirn133a1", "mirna133a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406922 ; - skos:exactMatch HGNC_symbol:MIR133A1 ; + skos:exactMatch UMLS:C1537782, + HGNC:31517, + HGNC_symbol:MIR133A1 ; biolink:category biolink:Gene . OMIM:610255 a owl:Class ; @@ -276693,14 +287427,15 @@ OMIM:610255 a owl:Class ; PMID:16731620, PMID:17468766, PMID:19015276 ; - oboInOwl:hasDbXref UMLS:C1537783 ; oboInOwl:hasExactSynonym "MIR133A2", "micro RNA 133a2", "mirn133a2", "mirna133a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406923 ; - skos:exactMatch HGNC_symbol:MIR133A2 ; + skos:exactMatch UMLS:C1537783, + HGNC:31518, + HGNC_symbol:MIR133A2 ; biolink:category biolink:Gene . OMIM:610256 a owl:Class ; @@ -276713,12 +287448,12 @@ OMIM:610256 a owl:Class ; PMID:27218149, PMID:27839872, PMID:3550563 ; - oboInOwl:hasDbXref UMLS:C1853230 ; oboInOwl:hasExactSynonym "ASGD2", "anterior segment dysgenesis 2", "aphakia, congenital primary", "cpa" ; rdfs:subClassOf OMIMPS:107250 ; + skos:exactMatch UMLS:C1853230 ; biolink:category biolink:Disease . OMIM:610257 a owl:Class ; @@ -276729,7 +287464,6 @@ OMIM:610257 a owl:Class ; PMID:30464055 ; RO:0002525 CHR:9606chr4q21.22 ; RO:0003303 OMIM:618651 ; - oboInOwl:hasDbXref UMLS:C1822669 ; oboInOwl:hasExactSynonym "SEC31A", "kiaa0905", "sec31 homolog a, copii coat complex component", @@ -276737,34 +287471,38 @@ OMIM:610257 a owl:Class ; "sec31-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22872 ; - skos:exactMatch HGNC_symbol:SEC31A ; + skos:exactMatch UMLS:C1822669, + HGNC:17052, + HGNC_symbol:SEC31A ; biolink:category biolink:Gene . OMIM:610258 a owl:Class ; rdfs:label "SEC31B" ; IAO:0000142 PMID:10788476, PMID:16495487 ; - oboInOwl:hasDbXref UMLS:C1822670 ; oboInOwl:hasExactSynonym "SEC31B", "sec31 homolog b, copii coat complex component", "sec31, yeast, homolog of, B", "sec31-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25956 ; - skos:exactMatch HGNC_symbol:SEC31B ; + skos:exactMatch UMLS:C1822670, + HGNC:23197, + HGNC_symbol:SEC31B ; biolink:category biolink:Gene . OMIM:610259 a owl:Class ; rdfs:label "LINC00163" ; IAO:0000142 PMID:16826516 ; - oboInOwl:hasDbXref UMLS:C1853229 ; oboInOwl:hasExactSynonym "LINC00163", "long intergenic noncoding RNA 163", "narcolepsy candidate region gene 1a", "noncoding RNA 163" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:727699 ; - skos:exactMatch HGNC_symbol:LINC00163 ; + skos:exactMatch UMLS:C1853229, + HGNC:33165, + HGNC_symbol:LINC00163 ; biolink:category biolink:Gene . OMIM:610263 a owl:Class ; @@ -276773,24 +287511,26 @@ OMIM:610263 a owl:Class ; PMID:27486783 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:617091 ; - oboInOwl:hasDbXref UMLS:C1853225 ; oboInOwl:hasExactSynonym "DNAJB13", "dnaj/hsp40 homolog, subfamily b, member 13", "testis spermatogenesis apoptosis-related protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374407 ; - skos:exactMatch HGNC_symbol:DNAJB13 ; + skos:exactMatch UMLS:C1853225, + HGNC:30718, + HGNC_symbol:DNAJB13 ; biolink:category biolink:Gene . OMIM:610264 a owl:Class ; rdfs:label "TEPP" ; IAO:0000142 PMID:14652002 ; - oboInOwl:hasDbXref UMLS:C1853224 ; oboInOwl:hasExactSynonym "TEPP", "testis-prostate-placenta-expressed protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374739 ; - skos:exactMatch HGNC_symbol:TEPP ; + skos:exactMatch UMLS:C1853224, + HGNC:33745, + HGNC_symbol:TEPP ; biolink:category biolink:Gene . OMIM:610266 a owl:Class ; @@ -276803,7 +287543,6 @@ OMIM:610266 a owl:Class ; PMID:9786855 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:619575 ; - oboInOwl:hasDbXref UMLS:C1539922 ; oboInOwl:hasExactSynonym "TAOK1", "kiaa1361", "mark kinase", @@ -276812,19 +287551,22 @@ OMIM:610266 a owl:Class ; "tao1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57551 ; - skos:exactMatch HGNC_symbol:TAOK1 ; + skos:exactMatch UMLS:C1539922, + HGNC:29259, + HGNC_symbol:TAOK1 ; biolink:category biolink:Gene . OMIM:610267 a owl:Class ; rdfs:label "METAP1D" ; IAO:0000142 PMID:14532271 ; - oboInOwl:hasDbXref UMLS:C1853222 ; oboInOwl:hasExactSynonym "METAP1D", "methionine aminopeptidase 1d", "methionyl aminopeptidase 1d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254042 ; - skos:exactMatch HGNC_symbol:METAP1D ; + skos:exactMatch UMLS:C1853222, + HGNC:32583, + HGNC_symbol:METAP1D ; biolink:category biolink:Gene . OMIM:610268 a owl:Class ; @@ -276832,7 +287574,6 @@ OMIM:610268 a owl:Class ; IAO:0000142 PMID:11481335, PMID:12077311, PMID:15671038 ; - oboInOwl:hasDbXref UMLS:C1537930 ; oboInOwl:hasExactSynonym "MOGAT1", "acyl-coa:monoacylglycerol acyltransferase 1", "diacylglycerol o-acyltransferase 2 like-1", @@ -276840,7 +287581,9 @@ OMIM:610268 a owl:Class ; "monoacylglycerol o-acyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116255 ; - skos:exactMatch HGNC_symbol:MOGAT1 ; + skos:exactMatch UMLS:C1537930, + HGNC:18210, + HGNC_symbol:MOGAT1 ; biolink:category biolink:Gene . OMIM:610269 a owl:Class ; @@ -276855,14 +287598,15 @@ OMIM:610270 a owl:Class ; PMID:12730219, PMID:15671038, PMID:19287392 ; - oboInOwl:hasDbXref UMLS:C1537931 ; oboInOwl:hasExactSynonym "MOGAT2", "acyl-coa:monoacylglycerol acyltransferase 2", "mgat2", "monoacylglycerol o-acyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80168 ; - skos:exactMatch HGNC_symbol:MOGAT2 ; + skos:exactMatch UMLS:C1537931, + HGNC:23248, + HGNC_symbol:MOGAT2 ; biolink:category biolink:Gene . OMIM:610271 a owl:Class ; @@ -276872,13 +287616,14 @@ OMIM:610271 a owl:Class ; PMID:33410539 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:618143 ; - oboInOwl:hasDbXref UMLS:C1423069, - UMLS:C4748357 ; oboInOwl:hasExactSynonym "PIGS", "phosphatidylinositol glycan anchor biosynthesis class s protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94005 ; - skos:exactMatch HGNC_symbol:PIGS ; + skos:exactMatch UMLS:C1423069, + UMLS:C4748357, + HGNC:14937, + HGNC_symbol:PIGS ; biolink:category biolink:Gene . OMIM:610272 a owl:Class ; @@ -276895,13 +287640,14 @@ OMIM:610272 a owl:Class ; PMID:28728837 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:615398 ; - oboInOwl:hasDbXref UMLS:C1423070 ; oboInOwl:hasExactSynonym "PIGT", "neuronal development-associated protein", "phosphatidylinositol glycan anchor biosynthesis class t protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51604 ; - skos:exactMatch HGNC_symbol:PIGT ; + skos:exactMatch UMLS:C1423070, + HGNC:14938, + HGNC_symbol:PIGT ; biolink:category biolink:Gene . OMIM:610273 a owl:Class ; @@ -276913,13 +287659,14 @@ OMIM:610273 a owl:Class ; PMID:31445883 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:610293 ; - oboInOwl:hasDbXref UMLS:C1425829 ; oboInOwl:hasExactSynonym "PIGM", "phosphatidylinositol glycan anchor biosynthesis class m protein", "pigm mannosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93183 ; - skos:exactMatch HGNC_symbol:PIGM ; + skos:exactMatch UMLS:C1425829, + HGNC:18858, + HGNC_symbol:PIGM ; biolink:category biolink:Gene . OMIM:610274 a owl:Class ; @@ -276934,12 +287681,13 @@ OMIM:610274 a owl:Class ; PMID:22315194 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:239300 ; - oboInOwl:hasDbXref UMLS:C1538644 ; oboInOwl:hasExactSynonym "PIGV", "phosphatidylinositol glycan anchor biosynthesis class 5 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55650 ; - skos:exactMatch HGNC_symbol:PIGV ; + skos:exactMatch UMLS:C1538644, + HGNC:26031, + HGNC_symbol:PIGV ; biolink:category biolink:Gene . OMIM:610275 a owl:Class ; @@ -276949,23 +287697,25 @@ OMIM:610275 a owl:Class ; PMID:27626616 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:616025 ; - oboInOwl:hasDbXref UMLS:C1427992 ; oboInOwl:hasExactSynonym "PIGW", "phosphatidylinositol glycan anchor biosynthesis class w protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284098 ; - skos:exactMatch HGNC_symbol:PIGW ; + skos:exactMatch UMLS:C1427992, + HGNC:23213, + HGNC_symbol:PIGW ; biolink:category biolink:Gene . OMIM:610276 a owl:Class ; rdfs:label "PIGX" ; IAO:0000142 PMID:15635094 ; - oboInOwl:hasDbXref UMLS:C1538645 ; oboInOwl:hasExactSynonym "PIGX", "phosphatidylinositol glycan anchor biosynthesis class 10 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54965 ; - skos:exactMatch HGNC_symbol:PIGX ; + skos:exactMatch UMLS:C1538645, + HGNC:26046, + HGNC_symbol:PIGX ; biolink:category biolink:Gene . OMIM:610277 a owl:Class ; @@ -276999,32 +287749,34 @@ OMIM:610277 a owl:Class ; PMID:8814256 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:615883 ; - oboInOwl:hasDbXref UMLS:C1823405 ; oboInOwl:hasExactSynonym "ORAI1", "calcium release-activated calcium modulator 1", "orai calcium release-activated calcium modulator 1", "transmembrane protein 142a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84876 ; - skos:exactMatch HGNC_symbol:ORAI1 ; + skos:exactMatch UMLS:C1823405, + HGNC:25896, + HGNC_symbol:ORAI1 ; biolink:category biolink:Gene . OMIM:610278 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15851471 ; - oboInOwl:hasDbXref UMLS:C1853216 ; oboInOwl:hasExactSynonym "pear1", "platelet endothelial aggregation receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375033 ; - skos:exactMatch HGNC_symbol:PEAR1 ; + skos:exactMatch UMLS:C1853216, + HGNC:33631, + HGNC_symbol:PEAR1 ; biolink:category biolink:Gene . OMIM:610279 a owl:Class ; rdfs:label "pachygyria, frontotemporal" ; IAO:0000142 PMID:14708094 ; - oboInOwl:hasDbXref UMLS:C1853215 ; oboInOwl:hasExactSynonym "pachygyria, frontotemporal" ; + skos:exactMatch UMLS:C1853215 ; biolink:category biolink:Disease . OMIM:610280 a owl:Class ; @@ -277032,33 +287784,35 @@ OMIM:610280 a owl:Class ; IAO:0000142 PMID:14523025, PMID:15044443, PMID:27830782 ; - oboInOwl:hasDbXref UMLS:C1428912 ; oboInOwl:hasExactSynonym "OSTN", "musclin", "osteocrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344901 ; - skos:exactMatch HGNC_symbol:OSTN ; + skos:exactMatch UMLS:C1428912, + HGNC:29961, + HGNC_symbol:OSTN ; biolink:category biolink:Gene . OMIM:610281 a owl:Class ; rdfs:label "ZFP62" ; IAO:0000142 PMID:8808410 ; - oboInOwl:hasDbXref UMLS:C1428013 ; oboInOwl:hasExactSynonym "ZFP62", "zinc finger protein 62" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643836 ; - skos:exactMatch HGNC_symbol:ZFP62 ; + skos:exactMatch UMLS:C1428013, + HGNC:23241, + HGNC_symbol:ZFP62 ; biolink:category biolink:Gene . OMIM:610283 a owl:Class ; rdfs:label "cone-rod dystrophy 10" ; IAO:0000142 PMID:16199541 ; - oboInOwl:hasDbXref UMLS:C1846529 ; oboInOwl:hasExactSynonym "CORD10", "cone-rod dystrophy 10" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1846529 ; biolink:category biolink:Disease . OMIM:610284 a owl:Class ; @@ -277068,12 +287822,13 @@ OMIM:610284 a owl:Class ; PMID:24341803 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:616299 ; - oboInOwl:hasDbXref UMLS:C1428876 ; oboInOwl:hasExactSynonym "LIPT1", "lipoyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51601 ; - skos:exactMatch HGNC_symbol:LIPT1 ; + skos:exactMatch UMLS:C1428876, + HGNC:29569, + HGNC_symbol:LIPT1 ; biolink:category biolink:Gene . OMIM:610285 a owl:Class ; @@ -277088,65 +287843,70 @@ OMIM:610285 a owl:Class ; PMID:31880392 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:254300 ; - oboInOwl:hasDbXref UMLS:C1824957, - UMLS:C1850792, - UMLS:C4760599 ; oboInOwl:hasExactSynonym "DOK7", "chromosome 4 open reading frame 25", "downstream of tyrosine kinase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285489 ; - skos:exactMatch HGNC_symbol:DOK7 ; + skos:exactMatch UMLS:C1824957, + UMLS:C1850792, + UMLS:C4760599, + HGNC:26594, + HGNC_symbol:DOK7 ; biolink:category biolink:Gene . OMIM:610286 a owl:Class ; rdfs:label "LCMT1" ; IAO:0000142 PMID:10600115, PMID:17724024 ; - oboInOwl:hasDbXref UMLS:C1424996 ; oboInOwl:hasExactSynonym "LCMT1", "leucine carboxyl methyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51451 ; - skos:exactMatch HGNC_symbol:LCMT1 ; + skos:exactMatch UMLS:C1424996, + HGNC:17557, + HGNC_symbol:LCMT1 ; biolink:category biolink:Gene . OMIM:610287 a owl:Class ; rdfs:label "FBXL15" ; IAO:0000142 PMID:16794082 ; - oboInOwl:hasDbXref UMLS:C1539482 ; oboInOwl:hasExactSynonym "FBXL15", "f-box and leucine-rich repeat protein 15", "f-box only protein 37", "jetlag, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79176 ; - skos:exactMatch HGNC_symbol:FBXL15 ; + skos:exactMatch UMLS:C1539482, + HGNC:28155, + HGNC_symbol:FBXL15 ; biolink:category biolink:Gene . OMIM:610288 a owl:Class ; rdfs:label "GOLGA6A" ; IAO:0000142 PMID:11161787 ; - oboInOwl:hasDbXref UMLS:C1422069 ; oboInOwl:hasExactSynonym "GOLGA6A", "golgi autoantigen, golgin subfamily a, 6", "golgin a6 family, member a", "golgin linked to pml" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342096 ; - skos:exactMatch HGNC_symbol:GOLGA6A ; + skos:exactMatch UMLS:C1422069, + HGNC:13567, + HGNC_symbol:GOLGA6A ; biolink:category biolink:Gene . OMIM:610289 a owl:Class ; rdfs:label "OXCT2" ; - oboInOwl:hasDbXref UMLS:C1425642 ; oboInOwl:hasExactSynonym "3-oxoacid coa transferase 2", "OXCT2", "flj00030", "scot-t" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64064 ; - skos:exactMatch HGNC_symbol:OXCT2 ; + skos:exactMatch UMLS:C1425642, + HGNC:18606, + HGNC_symbol:OXCT2 ; biolink:category biolink:Gene . OMIM:610290 a owl:Class ; @@ -277155,13 +287915,14 @@ OMIM:610290 a owl:Class ; PMID:19617566 ; RO:0002525 CHR:9606chr9q22.33 ; RO:0003303 OMIM:608812 ; - oboInOwl:hasDbXref UMLS:C1426502 ; oboInOwl:hasExactSynonym "GALNT12", "galnac transferase 12", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79695 ; - skos:exactMatch HGNC_symbol:GALNT12 ; + skos:exactMatch UMLS:C1426502, + HGNC:19877, + HGNC_symbol:GALNT12 ; biolink:category biolink:Gene . OMIM:610291 a owl:Class ; @@ -277171,12 +287932,13 @@ OMIM:610291 a owl:Class ; PMID:16543415, PMID:16545378, PMID:24240280 ; - oboInOwl:hasDbXref UMLS:C1428988 ; oboInOwl:hasExactSynonym "SV2C", "synaptic vesicle glycoprotein 2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22987 ; - skos:exactMatch HGNC_symbol:SV2C ; + skos:exactMatch UMLS:C1428988, + HGNC:30670, + HGNC_symbol:SV2C ; biolink:category biolink:Gene . OMIM:610292 a owl:Class ; @@ -277184,28 +287946,30 @@ OMIM:610292 a owl:Class ; IAO:0000142 PMID:11782428, PMID:16546095, PMID:18204447 ; - oboInOwl:hasDbXref UMLS:C1425385 ; oboInOwl:hasExactSynonym "BANK1", "b-cell scaffold protein with ankyrin repeats 1", "bank", "flj20706" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55024 ; - skos:exactMatch HGNC_symbol:BANK1 ; + skos:exactMatch UMLS:C1425385, + HGNC:18233, + HGNC_symbol:BANK1 ; biolink:category biolink:Gene . OMIM:610296 a owl:Class ; rdfs:label "NUDCD3" ; IAO:0000142 PMID:10470851, PMID:16754861 ; - oboInOwl:hasDbXref UMLS:C1538498 ; oboInOwl:hasExactSynonym "NUDCD3", "kiaa1068", "nudc domain-containing protein 3", "nudc-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23386 ; - skos:exactMatch HGNC_symbol:NUDCD3 ; + skos:exactMatch UMLS:C1538498, + HGNC:22208, + HGNC_symbol:NUDCD3 ; biolink:category biolink:Gene . OMIM:610298 a owl:Class ; @@ -277214,13 +287978,14 @@ OMIM:610298 a owl:Class ; PMID:12376540, PMID:15851520, PMID:16824950 ; - oboInOwl:hasDbXref UMLS:C1428878 ; oboInOwl:hasExactSynonym "PHLDB2", "ll5-beta", "pleckstrin homology-like domain, family b, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90102 ; - skos:exactMatch HGNC_symbol:PHLDB2 ; + skos:exactMatch UMLS:C1428878, + HGNC:29573, + HGNC_symbol:PHLDB2 ; biolink:category biolink:Gene . OMIM:610299 a owl:Class ; @@ -277229,52 +287994,56 @@ OMIM:610299 a owl:Class ; PMID:25704603 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:616269 ; - oboInOwl:hasDbXref UMLS:C1429203 ; oboInOwl:hasExactSynonym "SLC6A17", "ntt4", "solute carrier family 6 (neurotransmitter transporter), member 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388662 ; - skos:exactMatch HGNC_symbol:SLC6A17 ; + skos:exactMatch UMLS:C1429203, + HGNC:31399, + HGNC_symbol:SLC6A17 ; biolink:category biolink:Gene . OMIM:610300 a owl:Class ; rdfs:label "SLC6A18" ; IAO:0000142 PMID:16125675, PMID:19033659 ; - oboInOwl:hasDbXref UMLS:C1428591 ; oboInOwl:hasExactSynonym "SLC6A18", "solute carrier family 6 (neurotransmitter transporter), member 18", "xtrp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348932 ; - skos:exactMatch HGNC_symbol:SLC6A18 ; + skos:exactMatch UMLS:C1428591, + HGNC:26441, + HGNC_symbol:SLC6A18 ; biolink:category biolink:Gene . OMIM:610301 a owl:Class ; rdfs:label "TMEM57" ; IAO:0000142 PMID:12459264, PMID:15255972 ; - oboInOwl:hasDbXref UMLS:C1823319 ; oboInOwl:hasExactSynonym "TMEM57", "flj10747", "macoilin", "transmembrane protein 57" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55219 ; - skos:exactMatch HGNC_symbol:MACO1 ; + skos:exactMatch UMLS:C1823319, + HGNC:25572, + HGNC_symbol:MACO1 ; biolink:category biolink:Gene . OMIM:610302 a owl:Class ; rdfs:label "EDEM2" ; IAO:0000142 PMID:15537790, PMID:15579471 ; - oboInOwl:hasDbXref UMLS:C1825028 ; oboInOwl:hasExactSynonym "EDEM2", "endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55741 ; - skos:exactMatch HGNC_symbol:EDEM2 ; + skos:exactMatch UMLS:C1825028, + HGNC:15877, + HGNC_symbol:EDEM2 ; biolink:category biolink:Gene . OMIM:610303 a owl:Class ; @@ -277287,14 +288056,15 @@ OMIM:610303 a owl:Class ; PMID:70643 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:147630 ; - oboInOwl:hasDbXref UMLS:C1427946 ; oboInOwl:hasExactSynonym "MAFA", "maf bzip transcription factor a", "ripe3b1", "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389692 ; - skos:exactMatch HGNC_symbol:MAFA ; + skos:exactMatch UMLS:C1427946, + HGNC:23145, + HGNC_symbol:MAFA ; biolink:category biolink:Gene . OMIM:610304 a owl:Class ; @@ -277304,27 +288074,29 @@ OMIM:610304 a owl:Class ; PMID:16449189, PMID:18711132, PMID:21220515 ; - oboInOwl:hasDbXref UMLS:C1539271 ; oboInOwl:hasExactSynonym "DERL2", "der1-like domain family, member 2", "derlin 2", "f-lana" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51009 ; - skos:exactMatch HGNC_symbol:DERL2 ; + skos:exactMatch UMLS:C1539271, + HGNC:17943, + HGNC_symbol:DERL2 ; biolink:category biolink:Gene . OMIM:610305 a owl:Class ; rdfs:label "DERL3" ; IAO:0000142 PMID:15215855, PMID:16449189 ; - oboInOwl:hasDbXref UMLS:C1539272 ; oboInOwl:hasExactSynonym "DERL3", "der1-like domain family, member 3", "derlin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91319 ; - skos:exactMatch HGNC_symbol:DERL3 ; + skos:exactMatch UMLS:C1539272, + HGNC:14236, + HGNC_symbol:DERL3 ; biolink:category biolink:Gene . OMIM:610306 a owl:Class ; @@ -277333,13 +288105,14 @@ OMIM:610306 a owl:Class ; PMID:11546798, PMID:15754038, PMID:21335239 ; - oboInOwl:hasDbXref UMLS:C1826466 ; oboInOwl:hasExactSynonym "NPNT", "nephronectin", "preosteoblast egf-like repeat protein with mam domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255743 ; - skos:exactMatch HGNC_symbol:NPNT ; + skos:exactMatch UMLS:C1826466, + HGNC:27405, + HGNC_symbol:NPNT ; biolink:category biolink:Gene . OMIM:610307 a owl:Class ; @@ -277349,13 +288122,14 @@ OMIM:610307 a owl:Class ; PMID:15899891, PMID:16269826, PMID:16488390 ; - oboInOwl:hasDbXref UMLS:C1426121 ; oboInOwl:hasExactSynonym "CERK", "ceramide kinase", "kiaa1646" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64781 ; - skos:exactMatch HGNC_symbol:CERK ; + skos:exactMatch UMLS:C1426121, + HGNC:19256, + HGNC_symbol:CERK ; biolink:category biolink:Gene . OMIM:610308 a owl:Class ; @@ -277370,7 +288144,6 @@ OMIM:610308 a owl:Class ; PMID:25544610 ; RO:0002525 CHR:9606chr13q12.3 ; RO:0003303 OMIM:261540 ; - oboInOwl:hasDbXref UMLS:C1825855 ; oboInOwl:hasExactSynonym "B3GLCT", "beta-1,3-glucosyltransferase", "beta-3-glucosyltransferase", @@ -277378,34 +288151,38 @@ OMIM:610308 a owl:Class ; "udp-gal:beta-glcnac beta-1,3-galactosyltransferase-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145173 ; - skos:exactMatch HGNC_symbol:B3GLCT ; + skos:exactMatch UMLS:C1825855, + HGNC:20207, + HGNC_symbol:B3GLCT ; biolink:category biolink:Gene . OMIM:610309 a owl:Class ; rdfs:label "UBE2S" ; IAO:0000142 PMID:1379239, PMID:16819549 ; - oboInOwl:hasDbXref UMLS:C1442769 ; oboInOwl:hasExactSynonym "UBE2S", "e2epf", "epf5", "ubiquitin-conjugating enzyme e2s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27338 ; - skos:exactMatch HGNC_symbol:UBE2S ; + skos:exactMatch UMLS:C1442769, + HGNC:17895, + HGNC_symbol:UBE2S ; biolink:category biolink:Gene . OMIM:610310 a owl:Class ; rdfs:label "MGAT4D" ; IAO:0000142 PMID:16773575 ; - oboInOwl:hasDbXref UMLS:C1853199 ; oboInOwl:hasExactSynonym "MGAT4D", "loc152586", "mannosyl (alpha-1,3-)-glycoprotein beta-1,4-n-acetylglucosaminyltransferase family, member d", "mgat4 family, member d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152586 ; - skos:exactMatch HGNC_symbol:MGAT4D ; + skos:exactMatch UMLS:C1853199, + HGNC:43619, + HGNC_symbol:MGAT4D ; biolink:category biolink:Gene . OMIM:610311 a owl:Class ; @@ -277414,7 +288191,6 @@ OMIM:610311 a owl:Class ; PMID:15467741, PMID:16024617, PMID:18187620 ; - oboInOwl:hasDbXref UMLS:C1537682 ; oboInOwl:hasExactSynonym "MED28", "endothelial-derived gene 1", "magicin", @@ -277423,7 +288199,9 @@ OMIM:610311 a owl:Class ; "merlin- and grb2-interacting cytoskeletal protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80306 ; - skos:exactMatch HGNC_symbol:MED28 ; + skos:exactMatch UMLS:C1537682, + HGNC:24628, + HGNC_symbol:MED28 ; biolink:category biolink:Gene . OMIM:610312 a owl:Class ; @@ -277435,22 +288213,24 @@ OMIM:610312 a owl:Class ; PMID:17446352, PMID:22020280, PMID:24153179 ; - oboInOwl:hasDbXref UMLS:C1425022 ; oboInOwl:hasExactSynonym "mili, mouse, homolog of", "piwi-like 2: piwil2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55124 ; - skos:exactMatch HGNC_symbol:PIWIL2 ; + skos:exactMatch UMLS:C1425022, + HGNC:17644, + HGNC_symbol:PIWIL2 ; biolink:category biolink:Gene . OMIM:610314 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12906857 ; - oboInOwl:hasDbXref UMLS:C1425518 ; oboInOwl:hasExactSynonym "piwi-like 3: piwil3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440822 ; - skos:exactMatch HGNC_symbol:PIWIL3 ; + skos:exactMatch UMLS:C1425518, + HGNC:18443, + HGNC_symbol:PIWIL3 ; biolink:category biolink:Gene . OMIM:610315 a owl:Class ; @@ -277458,14 +288238,15 @@ OMIM:610315 a owl:Class ; IAO:0000142 PMID:12906857, PMID:17395546, PMID:22020280 ; - oboInOwl:hasDbXref UMLS:C1425519 ; oboInOwl:hasExactSynonym "PIWIL4", "hiwi2", "miwi2, mouse, homolog of", "piwi-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143689 ; - skos:exactMatch HGNC_symbol:PIWIL4 ; + skos:exactMatch UMLS:C1425519, + HGNC:18444, + HGNC_symbol:PIWIL4 ; biolink:category biolink:Gene . OMIM:610316 a owl:Class ; @@ -277481,61 +288262,65 @@ OMIM:610316 a owl:Class ; PMID:30046113 ; RO:0002525 CHR:9606chr2p16.1 ; RO:0003303 OMIM:614934 ; - oboInOwl:hasDbXref UMLS:C1427960 ; oboInOwl:hasExactSynonym "PNPT1", "old35", "pnpase", "polyribonucleotide nucleotidyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:87178 ; - skos:exactMatch HGNC_symbol:PNPT1 ; + skos:exactMatch UMLS:C1427960, + HGNC:23166, + HGNC_symbol:PNPT1 ; biolink:category biolink:Gene . OMIM:610317 a owl:Class ; rdfs:label "COBL" ; IAO:0000142 PMID:14512015, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1427760 ; oboInOwl:hasExactSynonym "COBL", "cordon-bleu wh2 repeat protein", "cordon-bleu, mouse, homolog of", "kiaa0633" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23242 ; - skos:exactMatch HGNC_symbol:COBL ; + skos:exactMatch UMLS:C1427760, + HGNC:22199, + HGNC_symbol:COBL ; biolink:category biolink:Gene . OMIM:610318 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10231032, PMID:14512015 ; - oboInOwl:hasDbXref UMLS:C1428135 ; oboInOwl:hasExactSynonym "cobl-like protein 1: cobll1", "cobl-related protein 1", "kiaa0977" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22837 ; - skos:exactMatch HGNC_symbol:COBLL1 ; + skos:exactMatch UMLS:C1428135, + HGNC:23571, + HGNC_symbol:COBLL1 ; biolink:category biolink:Gene . OMIM:610319 a owl:Class ; rdfs:label "rhizomelic dysplasia, scoliosis, and retinitis pigmentosa" ; IAO:0000142 PMID:16770799 ; - oboInOwl:hasDbXref UMLS:C1853197 ; - oboInOwl:hasExactSynonym "rhizomelic dysplasia, scoliosis, and retinitis pigmentosa" . + oboInOwl:hasExactSynonym "rhizomelic dysplasia, scoliosis, and retinitis pigmentosa" ; + skos:exactMatch UMLS:C1853197 . OMIM:610322 a owl:Class ; rdfs:label "TRERF1" ; IAO:0000142 PMID:11349124, PMID:12101186, PMID:15899840 ; - oboInOwl:hasDbXref UMLS:C1425411 ; oboInOwl:hasExactSynonym "TRERF1", "transcriptional regulating factor 1", "transcriptional regulating protein, 132-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55809 ; - skos:exactMatch HGNC_symbol:TRERF1 ; + skos:exactMatch UMLS:C1425411, + HGNC:18273, + HGNC_symbol:TRERF1 ; biolink:category biolink:Gene . OMIM:610323 a owl:Class ; @@ -277550,7 +288335,6 @@ OMIM:610323 a owl:Class ; PMID:19448665, PMID:19622726, PMID:19648967 ; - oboInOwl:hasDbXref UMLS:C1826315 ; oboInOwl:hasExactSynonym "MTDH", "astrocyte elevated gene 1", "lyric", @@ -277558,19 +288342,22 @@ OMIM:610323 a owl:Class ; "metastasis adhesion protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92140 ; - skos:exactMatch HGNC_symbol:MTDH ; + skos:exactMatch UMLS:C1826315, + HGNC:29608, + HGNC_symbol:MTDH ; biolink:category biolink:Gene . OMIM:610324 a owl:Class ; rdfs:label "OXSM" ; IAO:0000142 PMID:15668256 ; - oboInOwl:hasDbXref UMLS:C1826528 ; oboInOwl:hasExactSynonym "3-oxoacyl-acp synthase, mitochondrial", "OXSM", "beta-ketoacyl synthase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54995 ; - skos:exactMatch HGNC_symbol:OXSM ; + skos:exactMatch UMLS:C1826528, + HGNC:26063, + HGNC_symbol:OXSM ; biolink:category biolink:Gene . OMIM:610325 a owl:Class ; @@ -277580,13 +288367,14 @@ OMIM:610325 a owl:Class ; PMID:12679384, PMID:16088917, PMID:20675372 ; - oboInOwl:hasDbXref UMLS:C1417876 ; oboInOwl:hasExactSynonym "NUDC", "nuclear distribution c, dynein complex regulator", "nuclear distribution gene c, a. nidulans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10726 ; - skos:exactMatch HGNC_symbol:NUDC ; + skos:exactMatch UMLS:C1417876, + HGNC:8045, + HGNC_symbol:NUDC ; biolink:category biolink:Gene . OMIM:610326 a owl:Class ; @@ -277599,25 +288387,27 @@ OMIM:610326 a owl:Class ; PMID:31056085 ; RO:0002525 CHR:9606chr13q14.3 ; RO:0003303 OMIM:610181 ; - oboInOwl:hasDbXref UMLS:C1826837 ; oboInOwl:hasExactSynonym "RNASEH2B", "dleu8", "flj11712", "ribonuclease h2, subunit B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79621 ; - skos:exactMatch HGNC_symbol:RNASEH2B ; + skos:exactMatch UMLS:C1826837, + HGNC:25671, + HGNC_symbol:RNASEH2B ; biolink:category biolink:Gene . OMIM:610327 a owl:Class ; rdfs:label "RUFY1" ; IAO:0000142 PMID:11877430 ; - oboInOwl:hasDbXref UMLS:C1426389 ; oboInOwl:hasExactSynonym "RUFY1", "run and fyve domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80230 ; - skos:exactMatch HGNC_symbol:RUFY1 ; + skos:exactMatch UMLS:C1426389, + HGNC:19760, + HGNC_symbol:RUFY1 ; biolink:category biolink:Gene . OMIM:610328 a owl:Class ; @@ -277625,13 +288415,14 @@ OMIM:610328 a owl:Class ; IAO:0000142 PMID:10819331, PMID:11877430, PMID:17098871 ; - oboInOwl:hasDbXref UMLS:C1426390 ; oboInOwl:hasExactSynonym "RUFY2", "kiaa1537", "run and fyve domains-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55680 ; - skos:exactMatch HGNC_symbol:RUFY2 ; + skos:exactMatch UMLS:C1426390, + HGNC:19761, + HGNC_symbol:RUFY2 ; biolink:category biolink:Gene . OMIM:610330 a owl:Class ; @@ -277645,14 +288436,15 @@ OMIM:610330 a owl:Class ; PMID:31056085 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:610329 ; - oboInOwl:hasDbXref UMLS:C1826838 ; oboInOwl:hasExactSynonym "RNASEH2C", "ayp1", "flj20974", "ribonuclease h2, subunit c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84153 ; - skos:exactMatch HGNC_symbol:RNASEH2C ; + skos:exactMatch UMLS:C1826838, + HGNC:24116, + HGNC_symbol:RNASEH2C ; biolink:category biolink:Gene . OMIM:610331 a owl:Class ; @@ -277661,13 +288453,14 @@ OMIM:610331 a owl:Class ; PMID:11551980, PMID:12972610, PMID:15896295 ; - oboInOwl:hasDbXref UMLS:C1425399 ; oboInOwl:hasExactSynonym "HES6", "hairy/enhancer of split, drosophila, homolog of, 6", "hes family bhlh transcription factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55502 ; - skos:exactMatch HGNC_symbol:HES6 ; + skos:exactMatch UMLS:C1425399, + HGNC:18254, + HGNC_symbol:HES6 ; biolink:category biolink:Gene . OMIM:610332 a owl:Class ; @@ -277678,14 +288471,15 @@ OMIM:610334 a owl:Class ; rdfs:label "TMEM176A" ; IAO:0000142 PMID:11967007, PMID:12097419 ; - oboInOwl:hasDbXref UMLS:C1823440 ; oboInOwl:hasExactSynonym "TMEM176A", "gs188", "hepatocellular carcinoma-associated antigen 112", "transmembrane protein 176a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55365 ; - skos:exactMatch HGNC_symbol:TMEM176A ; + skos:exactMatch UMLS:C1823440, + HGNC:24930, + HGNC_symbol:TMEM176A ; biolink:category biolink:Gene . OMIM:610335 a owl:Class ; @@ -277693,34 +288487,35 @@ OMIM:610335 a owl:Class ; IAO:0000142 PMID:11703362, PMID:12097419, PMID:15906353 ; - oboInOwl:hasDbXref UMLS:C1538633 ; oboInOwl:hasExactSynonym "PHF20", "glioma-expressed antigen 2", "hepatocellular carcinoma-associated antigen 58", "phd finger protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51230 ; - skos:exactMatch HGNC_symbol:PHF20 ; + skos:exactMatch UMLS:C1538633, + HGNC:16098, + HGNC_symbol:PHF20 ; biolink:category biolink:Gene . OMIM:610336 a owl:Class ; rdfs:label "C2CD4C" ; IAO:0000142 PMID:11853319, PMID:15527968 ; - oboInOwl:hasDbXref UMLS:C1428858 ; oboInOwl:hasExactSynonym "C2CD4C", "c2 calcium-dependent domain-containing protein 4c", "kiaa1957", "nuclear-localized factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126567 ; - skos:exactMatch HGNC_symbol:C2CD4C ; + skos:exactMatch UMLS:C1428858, + HGNC:29417, + HGNC_symbol:C2CD4C ; biolink:category biolink:Gene . OMIM:610337 a owl:Class ; rdfs:label "URGCP" ; IAO:0000142 PMID:12082552 ; - oboInOwl:hasDbXref UMLS:C1835911 ; oboInOwl:hasExactSynonym "URGCP", "hbx antigen-upregulated gene 4", "hepatitis B virus-encoded 10 antigen-upregulated gene 4", @@ -277728,16 +288523,18 @@ OMIM:610337 a owl:Class ; "urg4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55665 ; - skos:exactMatch HGNC_symbol:URGCP ; + skos:exactMatch UMLS:C1835911, + HGNC:30890, + HGNC_symbol:URGCP ; biolink:category biolink:Gene . OMIM:610338 a owl:Class ; rdfs:label "right pulmonary artery, anomalous origin of, familial" ; IAO:0000142 PMID:16523515 ; - oboInOwl:hasDbXref UMLS:C1835910 ; oboInOwl:hasExactSynonym "arpa, familial", "right pulmonary artery, anomalous origin of, familial", - "right pulmonary artery, anomalous origin of, with ventricular septal defect, patent foramen ovale, and patent ductus arteriosus" . + "right pulmonary artery, anomalous origin of, with ventricular septal defect, patent foramen ovale, and patent ductus arteriosus" ; + skos:exactMatch UMLS:C1835910 . OMIM:610339 a owl:Class ; rdfs:label "P3H1" ; @@ -277750,7 +288547,6 @@ OMIM:610339 a owl:Class ; PMID:22281939 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:610915 ; - oboInOwl:hasDbXref UMLS:C1426160 ; oboInOwl:hasExactSynonym "P3H1", "growth suppressor 1", "leprecan", @@ -277758,7 +288554,9 @@ OMIM:610339 a owl:Class ; "prolyl 3-hydroxylase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64175 ; - skos:exactMatch HGNC_symbol:P3H1 ; + skos:exactMatch UMLS:C1426160, + HGNC:19316, + HGNC_symbol:P3H1 ; biolink:category biolink:Gene . OMIM:610340 a owl:Class ; @@ -277766,13 +288564,14 @@ OMIM:610340 a owl:Class ; IAO:0000142 PMID:10783258, PMID:14521927, PMID:8912867 ; - oboInOwl:hasDbXref UMLS:C1426447 ; oboInOwl:hasExactSynonym "EPB41L4B", "erythrocyte membrane protein band 4.1-like 4b", "expressed 1n highly metastatic cells 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54566 ; - skos:exactMatch HGNC_symbol:EPB41L4B ; + skos:exactMatch UMLS:C1426447, + HGNC:19818, + HGNC_symbol:EPB41L4B ; biolink:category biolink:Gene . OMIM:610341 a owl:Class ; @@ -277784,13 +288583,14 @@ OMIM:610341 a owl:Class ; PMID:25469533 ; RO:0002525 CHR:9606chr3q28 ; RO:0003303 OMIM:614292 ; - oboInOwl:hasDbXref UMLS:C1537563 ; oboInOwl:hasExactSynonym "P3H2", "leprecan-like 1", "prolyl 3-hydroxylase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55214 ; - skos:exactMatch HGNC_symbol:P3H2 ; + skos:exactMatch UMLS:C1537563, + HGNC:19317, + HGNC_symbol:P3H2 ; biolink:category biolink:Gene . OMIM:610342 a owl:Class ; @@ -277799,37 +288599,40 @@ OMIM:610342 a owl:Class ; PMID:15063763, PMID:28115524, PMID:8723724 ; - oboInOwl:hasDbXref UMLS:C1537564 ; oboInOwl:hasExactSynonym "P3H3", "leprecan-like 2", "prolyl 3-hydroxylase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10536 ; - skos:exactMatch HGNC_symbol:P3H3 ; + skos:exactMatch UMLS:C1537564, + HGNC:19318, + HGNC_symbol:P3H3 ; biolink:category biolink:Gene . OMIM:610343 a owl:Class ; rdfs:label "C2CD4A" ; IAO:0000142 PMID:15527968 ; - oboInOwl:hasDbXref UMLS:C1835909 ; oboInOwl:hasExactSynonym "C2CD4A", "c2 calcium-dependent domain-containing protein 4a", "nuclear-localized factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145741 ; - skos:exactMatch HGNC_symbol:C2CD4A ; + skos:exactMatch UMLS:C1835909, + HGNC:33627, + HGNC_symbol:C2CD4A ; biolink:category biolink:Gene . OMIM:610344 a owl:Class ; rdfs:label "C2CD4B" ; IAO:0000142 PMID:15527968 ; - oboInOwl:hasDbXref UMLS:C1835908 ; oboInOwl:hasExactSynonym "C2CD4B", "c2 calcium-dependent domain-containing protein 4b", "nuclear-localized factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388125 ; - skos:exactMatch HGNC_symbol:C2CD4B ; + skos:exactMatch UMLS:C1835908, + HGNC:33628, + HGNC_symbol:C2CD4B ; biolink:category biolink:Gene . OMIM:610345 a owl:Class ; @@ -277844,19 +288647,19 @@ OMIM:610345 a owl:Class ; PMID:3560758 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:212350 ; - oboInOwl:hasDbXref UMLS:C1826611 ; oboInOwl:hasExactSynonym "AGK", "acylglycerol kinase", "multisubstrate lipid kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55750 ; - skos:exactMatch HGNC_symbol:AGK ; + skos:exactMatch UMLS:C1826611, + HGNC:21869, + HGNC_symbol:AGK ; biolink:category biolink:Gene . OMIM:610346 a owl:Class ; rdfs:label "CDC37L1" ; IAO:0000142 PMID:11413142 ; - oboInOwl:hasDbXref UMLS:C1540301 ; oboInOwl:hasExactSynonym "CDC37L1", "cdc37-like 1", "cell division cycle 37, s. cerevisiae, homolog-like 1", @@ -277865,14 +288668,15 @@ OMIM:610346 a owl:Class ; "hsp90-associating relative of cdc37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55664 ; - skos:exactMatch HGNC_symbol:CDC37L1 ; + skos:exactMatch UMLS:C1540301, + HGNC:17179, + HGNC_symbol:CDC37L1 ; biolink:category biolink:Gene . OMIM:610347 a owl:Class ; rdfs:label "RPRD1A" ; IAO:0000142 PMID:12470661, PMID:22231121 ; - oboInOwl:hasDbXref UMLS:C1835907 ; oboInOwl:hasExactSynonym "RPRD1A", "cdkn2b-related protein", "cyclin-dependent kinase inhibitor 2b-related protein", @@ -277882,32 +288686,36 @@ OMIM:610347 a owl:Class ; "regulation of nuclear pre-mrna domain-containing protein 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55197 ; - skos:exactMatch HGNC_symbol:RPRD1A ; + skos:exactMatch UMLS:C1835907, + HGNC:25560, + HGNC_symbol:RPRD1A ; biolink:category biolink:Gene . OMIM:610348 a owl:Class ; rdfs:label "FAM178A" ; IAO:0000142 PMID:12459258 ; - oboInOwl:hasDbXref UMLS:C1425098 ; oboInOwl:hasExactSynonym "FAM178A", "chromosome 10 open reading frame 6", "family with sequence similarity 178, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55719 ; - skos:exactMatch HGNC_symbol:SLF2 ; + skos:exactMatch UMLS:C1425098, + HGNC:17814, + HGNC_symbol:SLF2 ; biolink:category biolink:Gene . OMIM:610349 a owl:Class ; rdfs:label "MAMSTR" ; IAO:0000142 PMID:16818234, PMID:18230740 ; - oboInOwl:hasDbXref UMLS:C1835906 ; oboInOwl:hasExactSynonym "MAMSTR", "mastr", "mef2-activating sap transcriptional regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284358 ; - skos:exactMatch HGNC_symbol:MAMSTR ; + skos:exactMatch UMLS:C1835906, + HGNC:26689, + HGNC_symbol:MAMSTR ; biolink:category biolink:Gene . OMIM:610350 a owl:Class ; @@ -277917,7 +288725,6 @@ OMIM:610350 a owl:Class ; PMID:23773660 ; RO:0002525 CHR:9606chr15q26.3 ; RO:0003303 OMIM:614340 ; - oboInOwl:hasDbXref UMLS:C1537575 ; oboInOwl:hasExactSynonym "LINS1", "flj10583", "lines homolog 1", @@ -277926,14 +288733,15 @@ OMIM:610350 a owl:Class ; "wins1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55180 ; - skos:exactMatch HGNC_symbol:LINS1 ; + skos:exactMatch UMLS:C1537575, + HGNC:30922, + HGNC_symbol:LINS1 ; biolink:category biolink:Gene . OMIM:610351 a owl:Class ; rdfs:label "PPP4R3A" ; IAO:0000142 PMID:16085932, PMID:16107728 ; - oboInOwl:hasDbXref UMLS:C1822785 ; oboInOwl:hasExactSynonym "PPP4R3A", "kiaa2010", "mek1 suppressor 1", @@ -277942,7 +288750,9 @@ OMIM:610351 a owl:Class ; "suppressor of mek1, dictyostelium, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55671 ; - skos:exactMatch HGNC_symbol:PPP4R3A ; + skos:exactMatch UMLS:C1822785, + HGNC:20219, + HGNC_symbol:PPP4R3A ; biolink:category biolink:Gene . OMIM:610352 a owl:Class ; @@ -277950,7 +288760,6 @@ OMIM:610352 a owl:Class ; IAO:0000142 PMID:10718198, PMID:16085932, PMID:16107728 ; - oboInOwl:hasDbXref UMLS:C1822786 ; oboInOwl:hasExactSynonym "PPP4R3B", "kiaa1387", "mek1 suppressor 2", @@ -277959,7 +288768,9 @@ OMIM:610352 a owl:Class ; "suppressor of mek1, dictyostelium, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57223 ; - skos:exactMatch HGNC_symbol:PPP4R3B ; + skos:exactMatch UMLS:C1822786, + HGNC:29267, + HGNC_symbol:PPP4R3B ; biolink:category biolink:Gene . OMIM:610354 a owl:Class ; @@ -277971,8 +288782,6 @@ OMIM:610354 a owl:Class ; PMID:31932796 ; RO:0002525 CHR:9606chr9p24.1 ; RO:0003303 OMIM:618761 ; - oboInOwl:hasDbXref UMLS:C1425035, - UMLS:C5231492 ; oboInOwl:hasExactSynonym "RIC1", "connexin 43-interacting protein, 150-kd", "kiaa1432", @@ -277980,7 +288789,10 @@ OMIM:610354 a owl:Class ; "ric1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57589 ; - skos:exactMatch HGNC_symbol:RIC1 ; + skos:exactMatch UMLS:C1425035, + UMLS:C5231492, + HGNC:17686, + HGNC_symbol:RIC1 ; biolink:category biolink:Gene . OMIM:610355 a owl:Class ; @@ -278001,26 +288813,28 @@ OMIM:610355 a owl:Class ; PMID:26649820 ; RO:0002525 CHR:9606chr16p12.2 ; RO:0003303 OMIM:613348 ; - oboInOwl:hasDbXref UMLS:C1835898 ; oboInOwl:hasExactSynonym "PALB2", "fancn gene", "partner and localizer of brca2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79728 ; - skos:exactMatch HGNC_symbol:PALB2 ; + skos:exactMatch UMLS:C1835898, + HGNC:26144, + HGNC_symbol:PALB2 ; biolink:category biolink:Gene . OMIM:610358 a owl:Class ; rdfs:label "SPCS1" ; IAO:0000142 PMID:8632014 ; - oboInOwl:hasDbXref UMLS:C1539816 ; oboInOwl:hasExactSynonym "SPCS1", "signal peptidase complex, subunit 1", "signal peptidase, 12-kd subunit", "spc1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28972 ; - skos:exactMatch HGNC_symbol:SPCS1 ; + skos:exactMatch UMLS:C1539816, + HGNC:23401, + HGNC_symbol:SPCS1 ; biolink:category biolink:Gene . OMIM:610360 a owl:Class ; @@ -278028,12 +288842,13 @@ OMIM:610360 a owl:Class ; IAO:0000142 PMID:14565953, PMID:15314156, PMID:17058067 ; - oboInOwl:hasDbXref UMLS:C1428023 ; oboInOwl:hasExactSynonym "MUC20", "mucin 20, cell surface-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200958 ; - skos:exactMatch HGNC_symbol:MUC20 ; + skos:exactMatch UMLS:C1428023, + HGNC:23282, + HGNC_symbol:MUC20 ; biolink:category biolink:Gene . OMIM:610362 a owl:Class ; @@ -278042,14 +288857,15 @@ OMIM:610362 a owl:Class ; PMID:25789692 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:610381 ; - oboInOwl:hasDbXref UMLS:C1826771 ; oboInOwl:hasExactSynonym "RAX2", "q50-type retinal homeobox", "retina and anterior neural fold homeobox 2", "retina and anterior neural fold homeobox-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84839 ; - skos:exactMatch HGNC_symbol:RAX2 ; + skos:exactMatch UMLS:C1826771, + HGNC:18286, + HGNC_symbol:RAX2 ; biolink:category biolink:Gene . OMIM:610363 a owl:Class ; @@ -278061,12 +288877,13 @@ OMIM:610363 a owl:Class ; PMID:27545678 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:617234 ; - oboInOwl:hasDbXref UMLS:C1426944 ; oboInOwl:hasExactSynonym "PADI6", "peptidylarginine deiminase, iia 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353238 ; - skos:exactMatch HGNC_symbol:PADI6 ; + skos:exactMatch UMLS:C1426944, + HGNC:20449, + HGNC_symbol:PADI6 ; biolink:category biolink:Gene . OMIM:610364 a owl:Class ; @@ -278074,25 +288891,27 @@ OMIM:610364 a owl:Class ; IAO:0000142 PMID:11996952, PMID:16607040, PMID:16636500 ; - oboInOwl:hasDbXref UMLS:C1823289 ; oboInOwl:hasExactSynonym "TMBIM1", "responsive to centrifugal force and shear stress 1", "transmembrane bax inhibitor motif-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64114 ; - skos:exactMatch HGNC_symbol:TMBIM1 ; + skos:exactMatch UMLS:C1823289, + HGNC:23410, + HGNC_symbol:TMBIM1 ; biolink:category biolink:Gene . OMIM:610365 a owl:Class ; rdfs:label "C1QTNF1" ; IAO:0000142 PMID:12409230 ; - oboInOwl:hasDbXref UMLS:C1422563 ; oboInOwl:hasExactSynonym "C1QTNF1", "c1q- and tumor necrosis factor-related protein 1", "g protein-coupled receptor-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114897 ; - skos:exactMatch HGNC_symbol:C1QTNF1 ; + skos:exactMatch UMLS:C1422563, + HGNC:14324, + HGNC_symbol:C1QTNF1 ; biolink:category biolink:Gene . OMIM:610366 a owl:Class ; @@ -278100,13 +288919,14 @@ OMIM:610366 a owl:Class ; IAO:0000142 PMID:10024875, PMID:8076832, PMID:9714600 ; - oboInOwl:hasDbXref UMLS:C1412449 ; oboInOwl:hasExactSynonym "AP3M1", "adaptor-related protein complex 3, mu-1 subunit", "clathrin adaptor complex ap3, mu-3a subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26985 ; - skos:exactMatch HGNC_symbol:AP3M1 ; + skos:exactMatch UMLS:C1412449, + HGNC:569, + HGNC_symbol:AP3M1 ; biolink:category biolink:Gene . OMIM:610367 a owl:Class ; @@ -278115,51 +288935,55 @@ OMIM:610367 a owl:Class ; PMID:11741323, PMID:12175779, PMID:16154905 ; - oboInOwl:hasDbXref UMLS:C1422501 ; oboInOwl:hasExactSynonym "SLC2A11", "glucose transporter 11", "solute carrier family 2 (facilitated glucose transporter), member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:66035 ; - skos:exactMatch HGNC_symbol:SLC2A11 ; + skos:exactMatch UMLS:C1422501, + HGNC:14239, + HGNC_symbol:SLC2A11 ; biolink:category biolink:Gene . OMIM:610368 a owl:Class ; rdfs:label "LRCH1" ; IAO:0000142 PMID:10231032, PMID:16447229 ; - oboInOwl:hasDbXref UMLS:C1537586 ; oboInOwl:hasExactSynonym "LRCH1", "kiaa1016", "leucine-rich repeats and calponin homology domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23143 ; - skos:exactMatch HGNC_symbol:LRCH1 ; + skos:exactMatch UMLS:C1537586, + HGNC:20309, + HGNC_symbol:LRCH1 ; biolink:category biolink:Gene . OMIM:610369 a owl:Class ; rdfs:label "HSPA14" ; IAO:0000142 PMID:14592822, PMID:16002468 ; - oboInOwl:hasDbXref UMLS:C1537387 ; oboInOwl:hasExactSynonym "HSPA14", "heat-shock 70-kd protein 14", "hsp70-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51182 ; - skos:exactMatch HGNC_symbol:HSPA14 ; + skos:exactMatch UMLS:C1537387, + HGNC:29526, + HGNC_symbol:HSPA14 ; biolink:category biolink:Gene . OMIM:610371 a owl:Class ; rdfs:label "SLC2A7" ; IAO:0000142 PMID:11780753 ; - oboInOwl:hasDbXref UMLS:C1421997 ; oboInOwl:hasExactSynonym "SLC2A7", "glucose transporter 7", "solute carrier family 2 (facilitated glucose transporter), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155184 ; - skos:exactMatch HGNC_symbol:SLC2A7 ; + skos:exactMatch UMLS:C1421997, + HGNC:13445, + HGNC_symbol:SLC2A7 ; biolink:category biolink:Gene . OMIM:610372 a owl:Class ; @@ -278168,35 +288992,37 @@ OMIM:610372 a owl:Class ; PMID:11832379, PMID:12890477, PMID:16091581 ; - oboInOwl:hasDbXref UMLS:C1425278 ; oboInOwl:hasExactSynonym "SLC2A12", "glucose transporter 12", "solute carrier family 2 (facilitated glucose transporter), member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154091 ; - skos:exactMatch HGNC_symbol:SLC2A12 ; + skos:exactMatch UMLS:C1425278, + HGNC:18067, + HGNC_symbol:SLC2A12 ; biolink:category biolink:Gene . OMIM:610373 a owl:Class ; rdfs:label "DDX50" ; IAO:0000142 PMID:11891046 ; - oboInOwl:hasDbXref UMLS:C1425165 ; oboInOwl:hasExactSynonym "DDX50", "dead/h-box 50", "dexd-box helicase 50", "rh-ii/gu-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79009 ; - skos:exactMatch HGNC_symbol:DDX50 ; + skos:exactMatch UMLS:C1425165, + HGNC:17906, + HGNC_symbol:DDX50 ; biolink:category biolink:Gene . OMIM:610374 a owl:Class ; rdfs:label "diabetes mellitus, transient neonatal, 2" ; IAO:0000142 PMID:16885549 ; - oboInOwl:hasDbXref UMLS:C1835887, - ORPHA:99886 ; oboInOwl:hasExactSynonym "TNDM2", "diabetes mellitus, transient neonatal, 2" ; + skos:exactMatch UMLS:C1835887, + ORPHA:99886 ; biolink:category biolink:Disease . OMIM:610375 a owl:Class ; @@ -278205,7 +289031,6 @@ OMIM:610375 a owl:Class ; PMID:14593112, PMID:14764709, PMID:20516077 ; - oboInOwl:hasDbXref UMLS:C1427462 ; oboInOwl:hasExactSynonym "CAPRIN2", "RNA granule protein 140", "c1q domain-containing protein 1", @@ -278216,7 +289041,9 @@ OMIM:610375 a owl:Class ; "kiaa1873" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65981 ; - skos:exactMatch HGNC_symbol:CAPRIN2 ; + skos:exactMatch UMLS:C1427462, + HGNC:21259, + HGNC_symbol:CAPRIN2 ; biolink:category biolink:Gene . OMIM:610376 a owl:Class ; @@ -278236,7 +289063,6 @@ OMIM:610376 a owl:Class ; PMID:31211835 ; RO:0002525 CHR:9606chr2q37.3 ; RO:0003303 OMIM:619215 ; - oboInOwl:hasDbXref UMLS:C1835886 ; oboInOwl:hasExactSynonym "ACKR3", "atypical chemokine receptor 3", "chemokine orphan receptor 1", @@ -278245,7 +289071,9 @@ OMIM:610376 a owl:Class ; "rdc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57007 ; - skos:exactMatch HGNC_symbol:ACKR3 ; + skos:exactMatch UMLS:C1835886, + HGNC:23692, + HGNC_symbol:ACKR3 ; biolink:category biolink:Gene . OMIM:610377 a owl:Class ; @@ -278258,10 +289086,10 @@ OMIM:610377 a owl:Class ; PMID:8352861, PMID:8386351, PMID:9714005 ; - oboInOwl:hasDbXref UMLS:C1959626, - ORPHA:29 ; oboInOwl:hasExactSynonym "MEVA", "mevalonic aciduria" ; + skos:exactMatch UMLS:C1959626, + ORPHA:29 ; biolink:category biolink:Disease . OMIM:610378 a owl:Class ; @@ -278269,13 +289097,14 @@ OMIM:610378 a owl:Class ; IAO:0000142 PMID:12042312, PMID:16417217, PMID:21654807 ; - oboInOwl:hasDbXref UMLS:C1539572 ; oboInOwl:hasExactSynonym "GLIS1", "gli-similar protein 1", "glis family zinc finger protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148979 ; - skos:exactMatch HGNC_symbol:GLIS1 ; + skos:exactMatch UMLS:C1539572, + HGNC:29525, + HGNC_symbol:GLIS1 ; biolink:category biolink:Gene . OMIM:610382 a owl:Class ; @@ -278289,18 +289118,17 @@ OMIM:610382 a owl:Class ; PMID:1782786, PMID:18925672, PMID:18925678 ; - oboInOwl:hasDbXref UMLS:C2931455 ; oboInOwl:hasExactSynonym "face blindness", "prosopagnosia, congenital", "prosopagnosia, developmental", "prosopagnosia, hereditary" ; + skos:exactMatch UMLS:C2931455 ; biolink:category biolink:Disease . OMIM:610383 a owl:Class ; rdfs:label "RASSF9" ; IAO:0000142 PMID:18272789, PMID:9837933 ; - oboInOwl:hasDbXref UMLS:C1423694 ; oboInOwl:hasExactSynonym "RASSF9", "pam c-terminal interactor protein 1", "pamci", @@ -278308,33 +289136,37 @@ OMIM:610383 a owl:Class ; "ras association domain family, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9182 ; - skos:exactMatch HGNC_symbol:RASSF9 ; + skos:exactMatch UMLS:C1423694, + HGNC:15739, + HGNC_symbol:RASSF9 ; biolink:category biolink:Gene . OMIM:610384 a owl:Class ; rdfs:label "HECW1" ; IAO:0000142 PMID:14684739, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1539659 ; oboInOwl:hasExactSynonym "HECW1", "hect, c2, and ww domains-containing e3 ubiquitin-protein ligase 1", "kiaa0322", "nedd4-like ubiquitin-protein ligase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23072 ; - skos:exactMatch HGNC_symbol:HECW1 ; + skos:exactMatch UMLS:C1539659, + HGNC:22195, + HGNC_symbol:HECW1 ; biolink:category biolink:Gene . OMIM:610385 a owl:Class ; rdfs:label "LR8" ; IAO:0000142 PMID:11967007, PMID:9922225 ; - oboInOwl:hasDbXref UMLS:C1835864 ; oboInOwl:hasExactSynonym "LR8", "lr8 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28959 ; - skos:exactMatch HGNC_symbol:TMEM176B ; + skos:exactMatch UMLS:C1835864, + HGNC:29596, + HGNC_symbol:TMEM176B ; biolink:category biolink:Gene . OMIM:610386 a owl:Class ; @@ -278342,13 +289174,14 @@ OMIM:610386 a owl:Class ; IAO:0000142 PMID:11527404, PMID:12050806, PMID:20671187 ; - oboInOwl:hasDbXref UMLS:C1425408 ; oboInOwl:hasExactSynonym "BTBD7", "btb/poz domain-containing protein 7", "fup1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55727 ; - skos:exactMatch HGNC_symbol:BTBD7 ; + skos:exactMatch UMLS:C1425408, + HGNC:18269, + HGNC_symbol:BTBD7 ; biolink:category biolink:Gene . OMIM:610387 a owl:Class ; @@ -278357,28 +289190,30 @@ OMIM:610387 a owl:Class ; PMID:16949250, PMID:19805291, PMID:30391163 ; - oboInOwl:hasDbXref UMLS:C1835863 ; oboInOwl:hasExactSynonym "SLC25A37", "mfrn1", "mitoferrin", "solute carrier family 25 (mitochondrial iron carrier), member 37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51312 ; - skos:exactMatch HGNC_symbol:SLC25A37 ; + skos:exactMatch UMLS:C1835863, + HGNC:29786, + HGNC_symbol:SLC25A37 ; biolink:category biolink:Gene . OMIM:610388 a owl:Class ; rdfs:label "REM1" ; IAO:0000142 PMID:10831614, PMID:31969708 ; - oboInOwl:hasDbXref UMLS:C1538825 ; oboInOwl:hasExactSynonym "REM1", "gtpase-regulating endothelial cell-sprouting protein", "ras (rad and gem)-like gtp-binding protein 1", "rrad- and gem-like gtpase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28954 ; - skos:exactMatch HGNC_symbol:REM1 ; + skos:exactMatch UMLS:C1538825, + HGNC:15922, + HGNC_symbol:REM1 ; biolink:category biolink:Gene . OMIM:610389 a owl:Class ; @@ -278387,14 +289222,15 @@ OMIM:610389 a owl:Class ; PMID:17195838 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:610798 ; - oboInOwl:hasDbXref UMLS:C1835861 ; oboInOwl:hasExactSynonym "LAMTOR2", "late endosomal/lysosomal adaptor, mapk and mtor activator 2", "mapbp-interacting protein", "p14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28956 ; - skos:exactMatch HGNC_symbol:LAMTOR2 ; + skos:exactMatch UMLS:C1835861, + HGNC:29796, + HGNC_symbol:LAMTOR2 ; biolink:category biolink:Gene . OMIM:610390 a owl:Class ; @@ -278402,20 +289238,20 @@ OMIM:610390 a owl:Class ; IAO:0000142 PMID:7888681 ; RO:0002525 CHR:9606chr11q12.1 ; RO:0003303 OMIM:619223 ; - oboInOwl:hasDbXref UMLS:C1835860 ; oboInOwl:hasExactSynonym "MPEG1", "macrophage expressed gene 1", "mpg1", "perforin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219972 ; - skos:exactMatch HGNC_symbol:MPEG1 ; + skos:exactMatch UMLS:C1835860, + HGNC:29619, + HGNC_symbol:MPEG1 ; biolink:category biolink:Gene . OMIM:610391 a owl:Class ; rdfs:label "PLPPR3" ; IAO:0000142 PMID:12730698 ; - oboInOwl:hasDbXref UMLS:C1835859 ; oboInOwl:hasExactSynonym "PLPPR3", "lipid phosphate phosphatase-related 3", "lpr3", @@ -278424,7 +289260,9 @@ OMIM:610391 a owl:Class ; "prg2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79948 ; - skos:exactMatch HGNC_symbol:PLPPR3 ; + skos:exactMatch UMLS:C1835859, + HGNC:23497, + HGNC_symbol:PLPPR3 ; biolink:category biolink:Gene . OMIM:610392 a owl:Class ; @@ -278436,14 +289274,15 @@ OMIM:610392 a owl:Class ; PMID:25634536, PMID:29643511, PMID:9689053 ; - oboInOwl:hasDbXref UMLS:C1428063 ; oboInOwl:hasExactSynonym "MYCBP2", "kiaa0916", "myc-binding protein 2", "protein associated with myc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23077 ; - skos:exactMatch HGNC_symbol:MYCBP2 ; + skos:exactMatch UMLS:C1428063, + HGNC:23386, + HGNC_symbol:MYCBP2 ; biolink:category biolink:Gene . OMIM:610393 a owl:Class ; @@ -278451,49 +289290,53 @@ OMIM:610393 a owl:Class ; IAO:0000142 PMID:10997877, PMID:16545939, PMID:27036302 ; - oboInOwl:hasDbXref UMLS:C1825392 ; oboInOwl:hasExactSynonym "GON4L", "gon4-like protein", "kiaa1606" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54856 ; - skos:exactMatch HGNC_symbol:GON4L ; + skos:exactMatch UMLS:C1825392, + HGNC:25973, + HGNC_symbol:GON4L ; biolink:category biolink:Gene . OMIM:610394 a owl:Class ; rdfs:label "GLIPR1L2" ; IAO:0000142 PMID:16714093 ; - oboInOwl:hasDbXref UMLS:C1825369 ; oboInOwl:hasExactSynonym "GLIPR1L2", "glipr1-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144321 ; - skos:exactMatch HGNC_symbol:GLIPR1L2 ; + skos:exactMatch UMLS:C1825369, + HGNC:28592, + HGNC_symbol:GLIPR1L2 ; biolink:category biolink:Gene . OMIM:610395 a owl:Class ; rdfs:label "GLIPR1L1" ; IAO:0000142 PMID:16714093 ; - oboInOwl:hasDbXref UMLS:C1825368 ; oboInOwl:hasExactSynonym "GLIPR1L1", "glipr1-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256710 ; - skos:exactMatch HGNC_symbol:GLIPR1L1 ; + skos:exactMatch UMLS:C1825368, + HGNC:28392, + HGNC_symbol:GLIPR1L1 ; biolink:category biolink:Gene . OMIM:610396 a owl:Class ; rdfs:label "TRAPPC6A" ; IAO:0000142 PMID:16697553, PMID:29391579 ; - oboInOwl:hasDbXref UMLS:C1427890, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "TRAPPC6A", "trafficking protein particle complex, subunit 6a", "trapp complex, subunit 6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79090 ; - skos:exactMatch HGNC_symbol:TRAPPC6A ; + skos:exactMatch UMLS:C1427890, + UMLS:C2986382, + HGNC:23069, + HGNC_symbol:TRAPPC6A ; biolink:category biolink:Gene . OMIM:610397 a owl:Class ; @@ -278504,52 +289347,56 @@ OMIM:610397 a owl:Class ; PMID:28626029 ; RO:0002525 CHR:9606chr14q21.1 ; RO:0003303 OMIM:617862 ; - oboInOwl:hasDbXref UMLS:C1427887 ; oboInOwl:hasExactSynonym "TRAPPC6B", "tpc6", "trafficking protein particle complex, subunit 6b", "trapp complex, subunit 6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122553 ; - skos:exactMatch HGNC_symbol:TRAPPC6B ; + skos:exactMatch UMLS:C1427887, + HGNC:23066, + HGNC_symbol:TRAPPC6B ; biolink:category biolink:Gene . OMIM:610398 a owl:Class ; rdfs:label "SAP30L" ; IAO:0000142 PMID:14680513 ; - oboInOwl:hasDbXref UMLS:C1826975 ; oboInOwl:hasExactSynonym "SAP30L", "sap30-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79685 ; - skos:exactMatch HGNC_symbol:SAP30L ; + skos:exactMatch UMLS:C1826975, + HGNC:25663, + HGNC_symbol:SAP30L ; biolink:category biolink:Gene . OMIM:610399 a owl:Class ; rdfs:label "TMPRSS11E" ; IAO:0000142 PMID:11161383, PMID:15328353 ; - oboInOwl:hasDbXref UMLS:C1540027 ; oboInOwl:hasExactSynonym "TMPRSS11E", "desc1", "transmembrane protease, serine 11e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28983 ; - skos:exactMatch HGNC_symbol:TMPRSS11E ; + skos:exactMatch UMLS:C1540027, + HGNC:24465, + HGNC_symbol:TMPRSS11E ; biolink:category biolink:Gene . OMIM:610400 a owl:Class ; rdfs:label "MACROD1" ; IAO:0000142 PMID:12578638, PMID:15691879 ; - oboInOwl:hasDbXref UMLS:C1835858 ; oboInOwl:hasExactSynonym "MACROD1", "lrp16 protein", "macro domain-containing 1", "mono-adp ribosylhydrolase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28992 ; - skos:exactMatch HGNC_symbol:MACROD1 ; + skos:exactMatch UMLS:C1835858, + HGNC:29598, + HGNC_symbol:MACROD1 ; biolink:category biolink:Gene . OMIM:610401 a owl:Class ; @@ -278557,13 +289404,14 @@ OMIM:610401 a owl:Class ; IAO:0000142 PMID:11038171, PMID:15519678, PMID:20407033 ; - oboInOwl:hasDbXref UMLS:C1422132 ; oboInOwl:hasExactSynonym "NTN4", "beta-netrin", "netrin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59277 ; - skos:exactMatch HGNC_symbol:NTN4 ; + skos:exactMatch UMLS:C1422132, + HGNC:13658, + HGNC_symbol:NTN4 ; biolink:category biolink:Gene . OMIM:610402 a owl:Class ; @@ -278575,14 +289423,15 @@ OMIM:610403 a owl:Class ; rdfs:label "CAND2" ; IAO:0000142 PMID:10441524, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1824526 ; oboInOwl:hasExactSynonym "CAND2", "cullin-associated neddylation-dissociated 2", "kiaa0667", "tbp-interacting protein B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23066 ; - skos:exactMatch HGNC_symbol:CAND2 ; + skos:exactMatch UMLS:C1824526, + HGNC:30689, + HGNC_symbol:CAND2 ; biolink:category biolink:Gene . OMIM:610404 a owl:Class ; @@ -278593,7 +289442,6 @@ OMIM:610404 a owl:Class ; PMID:16595695, PMID:18923082, PMID:30057030 ; - oboInOwl:hasDbXref UMLS:C1835856 ; oboInOwl:hasExactSynonym "RMI1", "blm-associated protein, 75-kd", "chromosome 9 open reading frame 76", @@ -278601,27 +289449,29 @@ OMIM:610404 a owl:Class ; "recq-mediated genome instability 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80010 ; - skos:exactMatch HGNC_symbol:RMI1 ; + skos:exactMatch UMLS:C1835856, + HGNC:25764, + HGNC_symbol:RMI1 ; biolink:category biolink:Gene . OMIM:610405 a owl:Class ; rdfs:label "CHPF" ; IAO:0000142 PMID:12716890, PMID:12761225 ; - oboInOwl:hasDbXref UMLS:C1835855 ; oboInOwl:hasExactSynonym "CHPF", "chondroitin polymerizing factor", "chondroitin sulfate synthase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79586 ; - skos:exactMatch HGNC_symbol:CHPF ; + skos:exactMatch UMLS:C1835855, + HGNC:24291, + HGNC_symbol:CHPF ; biolink:category biolink:Gene . OMIM:610406 a owl:Class ; rdfs:label "TRR-TCT2-1" ; IAO:0000142 PMID:2066114, PMID:7703509 ; - oboInOwl:hasDbXref UMLS:C1421178 ; oboInOwl:hasExactSynonym "TRR-TCT2-1", "transfer RNA arginine 1", "trna arginine (anticodon tct) 2-1", @@ -278629,7 +289479,9 @@ OMIM:610406 a owl:Class ; "trna-arg (anticodon tct) 2-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7230 ; - skos:exactMatch HGNC_symbol:TRR-TCT2-1 ; + skos:exactMatch UMLS:C1421178, + HGNC:12343, + HGNC_symbol:TRR-TCT2-1 ; biolink:category biolink:Gene . OMIM:610407 a owl:Class ; @@ -278637,7 +289489,6 @@ OMIM:610407 a owl:Class ; IAO:0000142 PMID:116197, PMID:2066114, PMID:7703509 ; - oboInOwl:hasDbXref UMLS:C1421118 ; oboInOwl:hasExactSynonym "TRG-GCC2-6", "transfer RNA glycine 2", "trna glycine (anticodon gcc) 2-6", @@ -278645,7 +289496,9 @@ OMIM:610407 a owl:Class ; "trna-gly (anticodon gcc) 2-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7196 ; - skos:exactMatch HGNC_symbol:TRG-GCC2-6 ; + skos:exactMatch UMLS:C1421118, + HGNC:12273, + HGNC_symbol:TRG-GCC2-6 ; biolink:category biolink:Gene . OMIM:610408 a owl:Class ; @@ -278653,36 +289506,39 @@ OMIM:610408 a owl:Class ; IAO:0000142 PMID:11336635, PMID:11741232, PMID:24695226 ; - oboInOwl:hasDbXref UMLS:C1425279 ; oboInOwl:hasExactSynonym "SLC15A3", "peptide/histidine transporter 2", "solute carrier family 15 (oligopeptide transporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51296 ; - skos:exactMatch HGNC_symbol:SLC15A3 ; + skos:exactMatch UMLS:C1425279, + HGNC:18068, + HGNC_symbol:SLC15A3 ; biolink:category biolink:Gene . OMIM:610409 a owl:Class ; rdfs:label "SLC16A8" ; IAO:0000142 PMID:10493836 ; - oboInOwl:hasDbXref UMLS:C1424140 ; oboInOwl:hasExactSynonym "SLC16A8", "monocarboxylate transporter 3", "solute carrier family 16 (monocarboxylic acid transporter), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23539 ; - skos:exactMatch HGNC_symbol:SLC16A8 ; + skos:exactMatch UMLS:C1424140, + HGNC:16270, + HGNC_symbol:SLC16A8 ; biolink:category biolink:Gene . OMIM:610410 a owl:Class ; rdfs:label "DHRS1" ; - oboInOwl:hasDbXref UMLS:C1424285 ; oboInOwl:hasExactSynonym "DHRS1", "sdr family, member 1", "short-chain dehydrogenase/reductase family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115817 ; - skos:exactMatch HGNC_symbol:DHRS1 ; + skos:exactMatch UMLS:C1424285, + HGNC:16445, + HGNC_symbol:DHRS1 ; biolink:category biolink:Gene . OMIM:610411 a owl:Class ; @@ -278690,7 +289546,6 @@ OMIM:610411 a owl:Class ; IAO:0000142 PMID:11447110, PMID:15143176, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1424594 ; oboInOwl:hasExactSynonym "IPO13", "imp13", "importin 13", @@ -278699,14 +289554,15 @@ OMIM:610411 a owl:Class ; "ran-binding protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9670 ; - skos:exactMatch HGNC_symbol:IPO13 ; + skos:exactMatch UMLS:C1424594, + HGNC:16853, + HGNC_symbol:IPO13 ; biolink:category biolink:Gene . OMIM:610412 a owl:Class ; rdfs:label "SPTSSB" ; IAO:0000142 PMID:15777716, PMID:19416851 ; - oboInOwl:hasDbXref UMLS:C1824153 ; oboInOwl:hasExactSynonym "SPTSSB", "admp, mouse, homolog of", "chromosome 3 open reading frame 57", @@ -278714,19 +289570,22 @@ OMIM:610412 a owl:Class ; "small subunit of serine palmitoyltransferase B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:165679 ; - skos:exactMatch HGNC_symbol:SPTSSB ; + skos:exactMatch UMLS:C1824153, + HGNC:24045, + HGNC_symbol:SPTSSB ; biolink:category biolink:Gene . OMIM:610413 a owl:Class ; rdfs:label "IGFBPL1" ; IAO:0000142 PMID:15845387 ; - oboInOwl:hasDbXref UMLS:C1537401 ; oboInOwl:hasExactSynonym "IGFBPL1", "igfbp-related protein 4", "insulin-like growth factor binding protein-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347252 ; - skos:exactMatch HGNC_symbol:IGFBPL1 ; + skos:exactMatch UMLS:C1537401, + HGNC:20081, + HGNC_symbol:IGFBPL1 ; biolink:category biolink:Gene . OMIM:610415 a owl:Class ; @@ -278734,50 +289593,54 @@ OMIM:610415 a owl:Class ; IAO:0000142 PMID:10394363, PMID:12855681, PMID:15753124 ; - oboInOwl:hasDbXref UMLS:C1426340 ; oboInOwl:hasExactSynonym "STXBP4", "stx4-interacting protein", "syntaxin-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:252983 ; - skos:exactMatch HGNC_symbol:STXBP4 ; + skos:exactMatch UMLS:C1426340, + HGNC:19694, + HGNC_symbol:STXBP4 ; biolink:category biolink:Gene . OMIM:610416 a owl:Class ; rdfs:label "SCAND1" ; IAO:0000142 PMID:10777584, PMID:12383503 ; - oboInOwl:hasDbXref UMLS:C1419842 ; oboInOwl:hasExactSynonym "SCAND1", "raz1", "scan domain-containing 1", "sdp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51282 ; - skos:exactMatch HGNC_symbol:SCAND1 ; + skos:exactMatch UMLS:C1419842, + HGNC:10566, + HGNC_symbol:SCAND1 ; biolink:category biolink:Gene . OMIM:610417 a owl:Class ; rdfs:label "SCAND2" ; IAO:0000142 PMID:11056053, PMID:12036577 ; - oboInOwl:hasDbXref UMLS:C1419843 ; oboInOwl:hasExactSynonym "SCAND2", "scan domain-containing 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54581 ; - skos:exactMatch HGNC_symbol:SCAND2P ; + skos:exactMatch UMLS:C1419843, + HGNC:10567, + HGNC_symbol:SCAND2P ; biolink:category biolink:Gene . OMIM:610418 a owl:Class ; rdfs:label "WDFY2" ; IAO:0000142 PMID:16873553 ; - oboInOwl:hasDbXref UMLS:C1426966 ; oboInOwl:hasExactSynonym "WDFY2", "wd repeat- and fyve domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115825 ; - skos:exactMatch HGNC_symbol:WDFY2 ; + skos:exactMatch UMLS:C1426966, + HGNC:20482, + HGNC_symbol:WDFY2 ; biolink:category biolink:Gene . OMIM:610421 a owl:Class ; @@ -278788,7 +289651,6 @@ OMIM:610421 a owl:Class ; PMID:15163637, PMID:15901763, PMID:27174676 ; - oboInOwl:hasDbXref UMLS:C1425323 ; oboInOwl:hasExactSynonym "KHDRBS3", "etoile", "kh domain-containing, rna-binding, signal transduction-associated protein 3", @@ -278797,7 +289659,9 @@ OMIM:610421 a owl:Class ; "tstar" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10656 ; - skos:exactMatch HGNC_symbol:KHDRBS3 ; + skos:exactMatch UMLS:C1425323, + HGNC:18117, + HGNC_symbol:KHDRBS3 ; biolink:category biolink:Gene . OMIM:610423 a owl:Class ; @@ -278808,14 +289672,15 @@ OMIM:610423 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:618067 ; - oboInOwl:hasDbXref UMLS:C1538564, - UMLS:C4748070 ; oboInOwl:hasExactSynonym "PACS2", "kiaa0602", "phosphofurin acidic cluster sorting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23241 ; - skos:exactMatch HGNC_symbol:PACS2 ; + skos:exactMatch UMLS:C1538564, + UMLS:C4748070, + HGNC:23794, + HGNC_symbol:PACS2 ; biolink:category biolink:Gene . OMIM:610426 a owl:Class ; @@ -278825,38 +289690,41 @@ OMIM:610426 a owl:Class ; OMIM:610428 a owl:Class ; rdfs:label "COX18" ; IAO:0000142 PMID:16212937 ; - oboInOwl:hasDbXref UMLS:C1824782 ; oboInOwl:hasExactSynonym "COX18", "cox18, s. cerevisiae, homolog of", "cytochrome c oxidase assembly factor cox18", "mitochondrial cox18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285521 ; - skos:exactMatch HGNC_symbol:COX18 ; + skos:exactMatch UMLS:C1824782, + HGNC:26801, + HGNC_symbol:COX18 ; biolink:category biolink:Gene . OMIM:610429 a owl:Class ; rdfs:label "COX19" ; IAO:0000142 PMID:16212937 ; - oboInOwl:hasDbXref UMLS:C1824783 ; oboInOwl:hasExactSynonym "COX19", "cox19, s. cerevisiae, homolog of", "cytochrome c oxidase assembly factor cox19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90639 ; - skos:exactMatch HGNC_symbol:COX19 ; + skos:exactMatch UMLS:C1824783, + HGNC:28074, + HGNC_symbol:COX19 ; biolink:category biolink:Gene . OMIM:610431 a owl:Class ; rdfs:label "RNF167" ; IAO:0000142 PMID:16314844 ; - oboInOwl:hasDbXref UMLS:C1538865 ; oboInOwl:hasExactSynonym "RNF167", "ring finger protein 167", "ring105" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26001 ; - skos:exactMatch HGNC_symbol:RNF167 ; + skos:exactMatch UMLS:C1538865, + HGNC:24544, + HGNC_symbol:RNF167 ; biolink:category biolink:Gene . OMIM:610432 a owl:Class ; @@ -278867,49 +289735,53 @@ OMIM:610432 a owl:Class ; PMID:25196541 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:616260 ; - oboInOwl:hasDbXref UMLS:C1427365 ; oboInOwl:hasExactSynonym "RNF125", "ring finger protein 125", "t-cell ring protein identified 1n activation screen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54941 ; - skos:exactMatch HGNC_symbol:RNF125 ; + skos:exactMatch UMLS:C1427365, + HGNC:21150, + HGNC_symbol:RNF125 ; biolink:category biolink:Gene . OMIM:610433 a owl:Class ; rdfs:label "LY6G5B" ; IAO:0000142 PMID:12079290 ; - oboInOwl:hasDbXref UMLS:C1422279 ; oboInOwl:hasExactSynonym "LY6G5B", "g5b", "lymphocyte antigen 6 complex, locus g5b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58496 ; - skos:exactMatch HGNC_symbol:LY6G5B ; + skos:exactMatch UMLS:C1422279, + HGNC:13931, + HGNC_symbol:LY6G5B ; biolink:category biolink:Gene . OMIM:610434 a owl:Class ; rdfs:label "LY6G5C" ; IAO:0000142 PMID:12079290 ; - oboInOwl:hasDbXref UMLS:C1422280 ; oboInOwl:hasExactSynonym "LY6G5C", "g5c", "lymphocyte antigen 6 complex, locus g5c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80741 ; - skos:exactMatch HGNC_symbol:LY6G5C ; + skos:exactMatch UMLS:C1422280, + HGNC:13932, + HGNC_symbol:LY6G5C ; biolink:category biolink:Gene . OMIM:610435 a owl:Class ; rdfs:label "LY6G6C" ; IAO:0000142 PMID:12079290 ; - oboInOwl:hasDbXref UMLS:C1422284 ; oboInOwl:hasExactSynonym "LY6G6C", "g6c", "lymphocyte antigen 6 complex, locus g6c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80740 ; - skos:exactMatch HGNC_symbol:LY6G6C ; + skos:exactMatch UMLS:C1422284, + HGNC:13936, + HGNC_symbol:LY6G6C ; biolink:category biolink:Gene . OMIM:610436 a owl:Class ; @@ -278923,31 +289795,32 @@ OMIM:610436 a owl:Class ; PMID:30121372 ; RO:0002525 CHR:9606chr18q22.2 ; RO:0003303 OMIM:614833 ; - oboInOwl:hasDbXref UMLS:C1425681 ; oboInOwl:hasExactSynonym "RTTN", "rotatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25914 ; - skos:exactMatch HGNC_symbol:RTTN ; + skos:exactMatch UMLS:C1425681, + HGNC:18654, + HGNC_symbol:RTTN ; biolink:category biolink:Gene . OMIM:610437 a owl:Class ; rdfs:label "LY6G6E" ; IAO:0000142 PMID:12079290 ; - oboInOwl:hasDbXref UMLS:C1422282 ; oboInOwl:hasExactSynonym "LY6G6E", "lymphocyte antigen 6 complex, locus g6e", "lymphocyte antigen 6 family, member g6e, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79136 ; - skos:exactMatch HGNC_symbol:LY6G6E ; + skos:exactMatch UMLS:C1422282, + HGNC:13934, + HGNC_symbol:LY6G6E ; biolink:category biolink:Gene . OMIM:610440 a owl:Class ; rdfs:label "SGSM3" ; IAO:0000142 PMID:15541357, PMID:17509819 ; - oboInOwl:hasDbXref UMLS:C1428456 ; oboInOwl:hasExactSynonym "SGSM3", "merlin-associated protein", "merlin-binding protein", @@ -278956,7 +289829,9 @@ OMIM:610440 a owl:Class ; "small g protein signaling modulator 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27352 ; - skos:exactMatch HGNC_symbol:SGSM3 ; + skos:exactMatch UMLS:C1428456, + HGNC:25228, + HGNC_symbol:SGSM3 ; biolink:category biolink:Gene . OMIM:610441 a owl:Class ; @@ -278967,8 +289842,8 @@ OMIM:610441 a owl:Class ; PMID:16960801, PMID:17971766, PMID:18841155 ; - oboInOwl:hasDbXref UMLS:C1864873 ; oboInOwl:hasExactSynonym "testicular microlithiasis" ; + skos:exactMatch UMLS:C1864873 ; biolink:category biolink:Disease . OMIM:610444 a owl:Class ; @@ -278977,11 +289852,11 @@ OMIM:610444 a owl:Class ; PMID:17584859, PMID:4919219, PMID:8673138 ; - oboInOwl:hasDbXref UMLS:C1864870 ; oboInOwl:hasExactSynonym "CSNBAD3", "night blindness, congenital stationary, autosomal dominant 3", "night blindness, congenital stationary, nougaret iia" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C1864870 ; biolink:category biolink:Disease . OMIM:610445 a owl:Class ; @@ -278990,11 +289865,11 @@ OMIM:610445 a owl:Class ; PMID:7846071, PMID:8358437, PMID:9888392 ; - oboInOwl:hasDbXref UMLS:C1864869 ; oboInOwl:hasExactSynonym "CSNBAD1", "night blindness, congenital stationary, autosomal dominant 1", "night blindness, congenital stationary, rhodopsin-related" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C1864869 ; biolink:category biolink:Disease . OMIM:610446 a owl:Class ; @@ -279007,9 +289882,9 @@ OMIM:610446 a owl:Class ; PMID:27821549, PMID:5143865, PMID:9486992 ; - oboInOwl:hasDbXref UMLS:C1864868 ; oboInOwl:hasExactSynonym "buruli ulcer, susceptibility to", "mycobacterium ulcerans, susceptibility to" ; + skos:exactMatch UMLS:C1864868 ; biolink:category biolink:Disease . OMIM:610447 a owl:Class ; @@ -279017,14 +289892,15 @@ OMIM:610447 a owl:Class ; IAO:0000142 PMID:14527721, PMID:15342797, PMID:18805828 ; - oboInOwl:hasDbXref UMLS:C1823113 ; oboInOwl:hasExactSynonym "SPRN", "shadoo", "shadow of prion protein", "sho" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:503542 ; - skos:exactMatch HGNC_symbol:SPRN ; + skos:exactMatch UMLS:C1823113, + HGNC:16871, + HGNC_symbol:SPRN ; biolink:category biolink:Gene . OMIM:610448 a owl:Class ; @@ -279039,47 +289915,50 @@ OMIM:610448 a owl:Class ; PMID:17846997, PMID:20752149, PMID:20799324 ; - oboInOwl:hasDbXref UMLS:C0024145 ; oboInOwl:hasExactSynonym "CHBL1", "chilblain lupus 1" ; rdfs:subClassOf OMIMPS:610448 ; + skos:exactMatch UMLS:C0024145 ; biolink:category biolink:Disease . OMIM:610449 a owl:Class ; rdfs:label "MTCH1" ; IAO:0000142 PMID:10551805, PMID:12377771 ; - oboInOwl:hasDbXref UMLS:C1425004 ; oboInOwl:hasExactSynonym "MTCH1", "mitochondrial carrier homolog 1", "presenilin-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23787 ; - skos:exactMatch HGNC_symbol:MTCH1 ; + skos:exactMatch UMLS:C1425004, + HGNC:17586, + HGNC_symbol:MTCH1 ; biolink:category biolink:Gene . OMIM:610450 a owl:Class ; rdfs:label "LYPD1" ; IAO:0000142 PMID:16413018 ; - oboInOwl:hasDbXref UMLS:C1537628 ; oboInOwl:hasExactSynonym "LYPD1", "ly6/plaur domain-containing protein 1", "putative hela tumor suppressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116372 ; - skos:exactMatch HGNC_symbol:LYPD1 ; + skos:exactMatch UMLS:C1537628, + HGNC:28431, + HGNC_symbol:LYPD1 ; biolink:category biolink:Gene . OMIM:610451 a owl:Class ; rdfs:label "LRRC35" ; IAO:0000142 PMID:15728251 ; - oboInOwl:hasDbXref UMLS:C1823249 ; oboInOwl:hasExactSynonym "LRRC35", "e-like protein", "leucine-rich repeat-containing protein 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219899 ; - skos:exactMatch HGNC_symbol:TBCEL ; + skos:exactMatch UMLS:C1823249, + HGNC:28115, + HGNC_symbol:TBCEL ; biolink:category biolink:Gene . OMIM:610452 a owl:Class ; @@ -279087,8 +289966,8 @@ OMIM:610452 a owl:Class ; IAO:0000142 PMID:10393720, PMID:16778168, PMID:2466800 ; - oboInOwl:hasDbXref UMLS:C1864867 ; oboInOwl:hasExactSynonym "mutagen sensitivity" ; + skos:exactMatch UMLS:C1864867 ; biolink:category biolink:Disease . OMIM:610453 a owl:Class ; @@ -279107,13 +289986,14 @@ OMIM:610453 a owl:Class ; PMID:7755582 ; RO:0002525 CHR:9606chr8p11.21-p11.1 ; RO:0003303 OMIM:616544 ; - oboInOwl:hasDbXref UMLS:C1825466 ; oboInOwl:hasExactSynonym "HGSNAT", "heparan-alpha-glucosaminide n-acetyltransferase", "transmembrane protein 76" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:138050 ; - skos:exactMatch HGNC_symbol:HGSNAT ; + skos:exactMatch UMLS:C1825466, + HGNC:26527, + HGNC_symbol:HGSNAT ; biolink:category biolink:Gene . OMIM:610454 a owl:Class ; @@ -279122,14 +290002,15 @@ OMIM:610454 a owl:Class ; PMID:11709705, PMID:18490357, PMID:21949185 ; - oboInOwl:hasDbXref UMLS:C1428848 ; oboInOwl:hasExactSynonym "LZTS2", "kiaa1813", "lapser1", "leucine zipper, putative tumor suppressor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84445 ; - skos:exactMatch HGNC_symbol:LZTS2 ; + skos:exactMatch UMLS:C1428848, + HGNC:29381, + HGNC_symbol:LZTS2 ; biolink:category biolink:Gene . OMIM:610456 a owl:Class ; @@ -279146,15 +290027,16 @@ OMIM:610456 a owl:Class ; PMID:30322869 ; RO:0002525 CHR:9606chr7q21.2 ; RO:0003303 OMIM:610455 ; - oboInOwl:hasDbXref UMLS:C1539722, - UMLS:C1864861, - UMLS:C4284088, - UMLS:C5436668 ; oboInOwl:hasExactSynonym "SAMD9", "sterile alpha motif domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54809 ; - skos:exactMatch HGNC_symbol:SAMD9 ; + skos:exactMatch UMLS:C1539722, + UMLS:C1864861, + UMLS:C4284088, + UMLS:C5436668, + HGNC:1348, + HGNC_symbol:SAMD9 ; biolink:category biolink:Gene . OMIM:610457 a owl:Class ; @@ -279164,65 +290046,70 @@ OMIM:610457 a owl:Class ; PMID:31495489 ; RO:0002525 CHR:9606chr2q21.1 ; RO:0003303 OMIM:618622 ; - oboInOwl:hasDbXref UMLS:C1822791 ; oboInOwl:hasExactSynonym "SMPD4", "kiaa1418", "sphingomyelin phosphodiesterase 4, neutral membrane", "sphingomyelinase, neutral, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55627 ; - skos:exactMatch HGNC_symbol:SMPD4 ; + skos:exactMatch UMLS:C1822791, + HGNC:32949, + HGNC_symbol:SMPD4 ; biolink:category biolink:Gene . OMIM:610458 a owl:Class ; rdfs:label "LZIC" ; IAO:0000142 PMID:11712074 ; - oboInOwl:hasDbXref UMLS:C1424983 ; oboInOwl:hasExactSynonym "LZIC", "leucine zipper and ctnnbip1 domains-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84328 ; - skos:exactMatch HGNC_symbol:LZIC ; + skos:exactMatch UMLS:C1424983, + HGNC:17497, + HGNC_symbol:LZIC ; biolink:category biolink:Gene . OMIM:610459 a owl:Class ; rdfs:label "PRR13" ; IAO:0000142 PMID:16847352 ; - oboInOwl:hasDbXref UMLS:C1826717 ; oboInOwl:hasExactSynonym "PRR13", "proline-rich protein 13", "taxol resistance gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54458 ; - skos:exactMatch HGNC_symbol:PRR13 ; + skos:exactMatch UMLS:C1826717, + HGNC:24528, + HGNC_symbol:PRR13 ; biolink:category biolink:Gene . OMIM:610461 a owl:Class ; rdfs:label "RTN4RL1" ; IAO:0000142 PMID:12694398, PMID:12839991 ; - oboInOwl:hasDbXref UMLS:C1427489 ; oboInOwl:hasExactSynonym "RTN4RL1", "nogo-66 receptor homolog 2", "nogo-66 receptor-related protein 3", "reticulon 4 receptor-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146760 ; - skos:exactMatch HGNC_symbol:RTN4RL1 ; + skos:exactMatch UMLS:C1427489, + HGNC:21329, + HGNC_symbol:RTN4RL1 ; biolink:category biolink:Gene . OMIM:610462 a owl:Class ; rdfs:label "RTN4RL2" ; IAO:0000142 PMID:12694398, PMID:12839991 ; - oboInOwl:hasDbXref UMLS:C1427877 ; oboInOwl:hasExactSynonym "RTN4RL2", "nogo-66 receptor homolog 1", "nogo-66 receptor-related protein 2", "reticulon 4 receptor-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:349667 ; - skos:exactMatch HGNC_symbol:RTN4RL2 ; + skos:exactMatch UMLS:C1427877, + HGNC:23053, + HGNC_symbol:RTN4RL2 ; biolink:category biolink:Gene . OMIM:610463 a owl:Class ; @@ -279234,7 +290121,6 @@ OMIM:610463 a owl:Class ; PMID:29100083 ; RO:0002525 CHR:9606chr6q22.1 ; RO:0003303 OMIM:617831 ; - oboInOwl:hasDbXref UMLS:C1826501 ; oboInOwl:hasExactSynonym "NUS1", "chromosome 6 open reading frame 68", "nogob receptor", @@ -279242,46 +290128,51 @@ OMIM:610463 a owl:Class ; "nus1 dehydrodolichyl diphosphate synthase subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116150 ; - skos:exactMatch HGNC_symbol:NUS1 ; + skos:exactMatch UMLS:C1826501, + HGNC:21042, + HGNC_symbol:NUS1 ; biolink:category biolink:Gene . OMIM:610464 a owl:Class ; rdfs:label "GPR156" ; IAO:0000142 PMID:12591167, PMID:16229975 ; - oboInOwl:hasDbXref UMLS:C1427157 ; oboInOwl:hasExactSynonym "GPR156", "g protein-coupled receptor 156", "gababl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:165829 ; - skos:exactMatch HGNC_symbol:GPR156 ; + skos:exactMatch UMLS:C1427157, + HGNC:20844, + HGNC_symbol:GPR156 ; biolink:category biolink:Gene . OMIM:610465 a owl:Class ; rdfs:label "ACSF2" ; IAO:0000142 PMID:16380219, PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C1864859 ; oboInOwl:hasExactSynonym "ACSF2", "acyl-coa synthetase family, member 2", "flj20920" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80221 ; - skos:exactMatch HGNC_symbol:ACSF2 ; + skos:exactMatch UMLS:C1864859, + HGNC:26101, + HGNC_symbol:ACSF2 ; biolink:category biolink:Gene . OMIM:610466 a owl:Class ; rdfs:label "LIX1" ; IAO:0000142 PMID:11731258, PMID:16899656 ; - oboInOwl:hasDbXref UMLS:C1537580 ; oboInOwl:hasExactSynonym "LIX1", "limb and cns expressed 1", "limb expression 1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:167410 ; - skos:exactMatch HGNC_symbol:LIX1 ; + skos:exactMatch UMLS:C1537580, + HGNC:18581, + HGNC_symbol:LIX1 ; biolink:category biolink:Gene . OMIM:610467 a owl:Class ; @@ -279292,52 +290183,56 @@ OMIM:610467 a owl:Class ; PMID:15829503, PMID:18554506, PMID:23933735 ; - oboInOwl:hasDbXref UMLS:C1419093 ; oboInOwl:hasExactSynonym "3-hydroxyacyl-coa dehydratase 1", "HACD1", "protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9200 ; - skos:exactMatch HGNC_symbol:HACD1 ; + skos:exactMatch UMLS:C1419093, + HGNC:9639, + HGNC_symbol:HACD1 ; biolink:category biolink:Gene . OMIM:610468 a owl:Class ; rdfs:label "IFI44" ; IAO:0000142 PMID:2170570 ; - oboInOwl:hasDbXref UMLS:C1424650 ; oboInOwl:hasExactSynonym "IFI44", "interferon-induced protein 44", "interferon-induced, hepatitis c-associated microtubule aggregate protein, 44 kd", "p44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10561 ; - skos:exactMatch HGNC_symbol:IFI44 ; + skos:exactMatch UMLS:C1424650, + HGNC:16938, + HGNC_symbol:IFI44 ; biolink:category biolink:Gene . OMIM:610469 a owl:Class ; rdfs:label "AP3M2" ; IAO:0000142 PMID:7601449, PMID:8076832 ; - oboInOwl:hasDbXref UMLS:C1412450 ; oboInOwl:hasExactSynonym "AP3M2", "adaptor-related protein complex 3, mu-2 subunit", "cla20", "clathrin adaptor complex ap3, mu-3b subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10947 ; - skos:exactMatch HGNC_symbol:AP3M2 ; + skos:exactMatch UMLS:C1412450, + HGNC:570, + HGNC_symbol:AP3M2 ; biolink:category biolink:Gene . OMIM:610470 a owl:Class ; rdfs:label "TRPT1" ; IAO:0000142 PMID:14504659 ; - oboInOwl:hasDbXref UMLS:C1426854 ; oboInOwl:hasExactSynonym "TRPT1", "transfer RNA phosphotransferase 1", "trna phosphotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83707 ; - skos:exactMatch HGNC_symbol:TRPT1 ; + skos:exactMatch UMLS:C1426854, + HGNC:20316, + HGNC_symbol:TRPT1 ; biolink:category biolink:Gene . OMIM:610471 a owl:Class ; @@ -279346,12 +290241,13 @@ OMIM:610471 a owl:Class ; PMID:20736312, PMID:29146868, PMID:29146869 ; - oboInOwl:hasDbXref UMLS:C1823616 ; oboInOwl:hasExactSynonym "VASH2", "vasohibin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79805 ; - skos:exactMatch HGNC_symbol:VASH2 ; + skos:exactMatch UMLS:C1823616, + HGNC:25723, + HGNC_symbol:VASH2 ; biolink:category biolink:Gene . OMIM:610472 a owl:Class ; @@ -279359,25 +290255,27 @@ OMIM:610472 a owl:Class ; IAO:0000142 PMID:16704971, PMID:16864775, PMID:18156367 ; - oboInOwl:hasDbXref UMLS:C1825853 ; oboInOwl:hasExactSynonym "AYTL2", "acyltransferase-like 2", "lpc acyltransferase 1", "lysophosphatidylcholine acyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79888 ; - skos:exactMatch HGNC_symbol:LPCAT1 ; + skos:exactMatch UMLS:C1825853, + HGNC:25718, + HGNC_symbol:LPCAT1 ; biolink:category biolink:Gene . OMIM:610473 a owl:Class ; rdfs:label "LPGAT1" ; IAO:0000142 PMID:15485873 ; - oboInOwl:hasDbXref UMLS:C1537584 ; oboInOwl:hasExactSynonym "LPGAT1", "lysophosphatidylglycerol acyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9926 ; - skos:exactMatch HGNC_symbol:LPGAT1 ; + skos:exactMatch UMLS:C1537584, + HGNC:28985, + HGNC_symbol:LPGAT1 ; biolink:category biolink:Gene . OMIM:610474 a owl:Class ; @@ -279386,29 +290284,29 @@ OMIM:610474 a owl:Class ; PMID:24864036, PMID:8601314, PMID:8630492 ; - oboInOwl:hasDbXref UMLS:C1864852 ; oboInOwl:hasExactSynonym "CATSHLS", "camptodactyly, tall stature, and hearing loss syndrome", "catshl syndrome" ; + skos:exactMatch UMLS:C1864852 ; biolink:category biolink:Disease . OMIM:610477 a owl:Class ; rdfs:label "TMPRSS9" ; IAO:0000142 PMID:12886014 ; - oboInOwl:hasDbXref UMLS:C1428929 ; oboInOwl:hasExactSynonym "TMPRSS9", "polyserase 1", "transmembrane protease, serine 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:360200 ; - skos:exactMatch HGNC_symbol:TMPRSS9 ; + skos:exactMatch UMLS:C1428929, + HGNC:30079, + HGNC_symbol:TMPRSS9 ; biolink:category biolink:Gene . OMIM:610479 a owl:Class ; rdfs:label "SRFBP1" ; IAO:0000142 PMID:15492011, PMID:16647043 ; - oboInOwl:hasDbXref UMLS:C1539847 ; oboInOwl:hasExactSynonym "SRFBP1", "p49", "p49/strap", @@ -279416,68 +290314,73 @@ OMIM:610479 a owl:Class ; "srf-dependent transcription regulation-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153443 ; - skos:exactMatch HGNC_symbol:SRFBP1 ; + skos:exactMatch UMLS:C1539847, + HGNC:26333, + HGNC_symbol:SRFBP1 ; biolink:category biolink:Gene . OMIM:610480 a owl:Class ; rdfs:label "LEMD1" ; IAO:0000142 PMID:15254688 ; - oboInOwl:hasDbXref UMLS:C1425741 ; oboInOwl:hasExactSynonym "LEMD1", "lem domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93273 ; - skos:exactMatch HGNC_symbol:LEMD1 ; + skos:exactMatch UMLS:C1425741, + HGNC:18725, + HGNC_symbol:LEMD1 ; biolink:category biolink:Gene . OMIM:610481 a owl:Class ; rdfs:label "SHD" ; IAO:0000142 PMID:9315092 ; - oboInOwl:hasDbXref UMLS:C1822716 ; oboInOwl:hasExactSynonym "SHD", "sh2 domain-containing protein d", "src homology 2 domain-containing transforming protein d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56961 ; - skos:exactMatch HGNC_symbol:SHD ; + skos:exactMatch UMLS:C1822716, + HGNC:30633, + HGNC_symbol:SHD ; biolink:category biolink:Gene . OMIM:610482 a owl:Class ; rdfs:label "SHE" ; IAO:0000142 PMID:9315092 ; - oboInOwl:hasDbXref UMLS:C1822717 ; oboInOwl:hasExactSynonym "SHE", "sh2 domain-containing protein e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126669 ; - skos:exactMatch HGNC_symbol:SHE ; + skos:exactMatch UMLS:C1822717, + HGNC:27004, + HGNC_symbol:SHE ; biolink:category biolink:Gene . OMIM:610483 a owl:Class ; rdfs:label "agammaglobulinemia, microcephaly, and severe dermatitis" ; IAO:0000142 PMID:16691627 ; - oboInOwl:hasDbXref UMLS:C1864848 ; oboInOwl:hasExactSynonym "agammaglobulinemia, microcephaly, and severe dermatitis" ; + skos:exactMatch UMLS:C1864848 ; biolink:category biolink:Disease . OMIM:610484 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:16522626, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1864847 ; oboInOwl:hasExactSynonym "kiaa0552", "proline-rich synapse-associated protein-interacting protein 1", "prosap-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9762 ; - skos:exactMatch HGNC_symbol:LZTS3 ; + skos:exactMatch UMLS:C1864847, + HGNC:30139, + HGNC_symbol:LZTS3 ; biolink:category biolink:Gene . OMIM:610485 a owl:Class ; rdfs:label "LINC00312" ; IAO:0000142 PMID:11780420, PMID:15474036 ; - oboInOwl:hasDbXref UMLS:C1416896 ; oboInOwl:hasExactSynonym "LINC00312", "estrogen receptor repressor, 10-kd", "long intergenic noncoding RNA 312", @@ -279485,80 +290388,88 @@ OMIM:610485 a owl:Class ; "nag7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29931 ; - skos:exactMatch HGNC_symbol:LINC00312 ; + skos:exactMatch UMLS:C1416896, + HGNC:6662, + HGNC_symbol:LINC00312 ; biolink:category biolink:Gene . OMIM:610486 a owl:Class ; rdfs:label "LRRC4" ; IAO:0000142 PMID:15967442 ; - oboInOwl:hasDbXref UMLS:C1423596 ; oboInOwl:hasExactSynonym "LRRC4", "leucine-rich repeat-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64101 ; - skos:exactMatch HGNC_symbol:LRRC4 ; + skos:exactMatch UMLS:C1423596, + HGNC:15586, + HGNC_symbol:LRRC4 ; biolink:category biolink:Gene . OMIM:610487 a owl:Class ; rdfs:label "KHDRBS2" ; IAO:0000142 PMID:12529443, PMID:12549823 ; - oboInOwl:hasDbXref UMLS:C1425320 ; oboInOwl:hasExactSynonym "KHDRBS2", "kh domain-containing, rna-binding, signal transduction-associated protein 2", "slm1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:202559 ; - skos:exactMatch HGNC_symbol:KHDRBS2 ; + skos:exactMatch UMLS:C1425320, + HGNC:18114, + HGNC_symbol:KHDRBS2 ; biolink:category biolink:Gene . OMIM:610488 a owl:Class ; rdfs:label "TTC9" ; IAO:0000142 PMID:16678794, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1426823 ; oboInOwl:hasExactSynonym "TTC9", "kiaa0227", "tetratricopeptide repeat domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23508 ; - skos:exactMatch HGNC_symbol:TTC9 ; + skos:exactMatch UMLS:C1426823, + HGNC:20267, + HGNC_symbol:TTC9 ; biolink:category biolink:Gene . OMIM:610490 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:16793224 ; - oboInOwl:hasDbXref UMLS:C1864845 ; oboInOwl:hasExactSynonym "flj16165", "papl", "purple acid phosphatase, long form" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390928 ; - skos:exactMatch HGNC_symbol:ACP7 ; + skos:exactMatch UMLS:C1864845, + HGNC:33781, + HGNC_symbol:ACP7 ; biolink:category biolink:Gene . OMIM:610491 a owl:Class ; rdfs:label "SLAIN1" ; IAO:0000142 PMID:16546155 ; - oboInOwl:hasDbXref UMLS:C1822732 ; oboInOwl:hasExactSynonym "SLAIN1", "slain motif family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122060 ; - skos:exactMatch HGNC_symbol:SLAIN1 ; + skos:exactMatch UMLS:C1822732, + HGNC:26387, + HGNC_symbol:SLAIN1 ; biolink:category biolink:Gene . OMIM:610492 a owl:Class ; rdfs:label "SLAIN2" ; IAO:0000142 PMID:10819331, PMID:16546155 ; - oboInOwl:hasDbXref UMLS:C1822733 ; oboInOwl:hasExactSynonym "SLAIN2", "kiaa1458", "slain motif family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57606 ; - skos:exactMatch HGNC_symbol:SLAIN2 ; + skos:exactMatch UMLS:C1822733, + HGNC:29282, + HGNC_symbol:SLAIN2 ; biolink:category biolink:Gene . OMIM:610493 a owl:Class ; @@ -279567,21 +290478,21 @@ OMIM:610493 a owl:Class ; PMID:12792787, PMID:15262978, PMID:16814745 ; - oboInOwl:hasDbXref UMLS:C1428199 ; oboInOwl:hasExactSynonym "DIXDC1", "coiled-coil dix1", "dix domain-containing protein 1", "kiaa1735" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85458 ; - skos:exactMatch HGNC_symbol:DIXDC1 ; + skos:exactMatch UMLS:C1428199, + HGNC:23695, + HGNC_symbol:DIXDC1 ; biolink:category biolink:Gene . OMIM:610494 a owl:Class ; rdfs:label "DCAF6" ; IAO:0000142 PMID:12032826, PMID:15784617 ; - oboInOwl:hasDbXref UMLS:C1537421 ; oboInOwl:hasExactSynonym "DCAF6", "ddb1- and cul4-associated factor 6", "hom-tes-88/94/95", @@ -279589,19 +290500,22 @@ OMIM:610494 a owl:Class ; "nuclear receptor interaction protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55827 ; - skos:exactMatch HGNC_symbol:DCAF6 ; + skos:exactMatch UMLS:C1537421, + HGNC:30002, + HGNC_symbol:DCAF6 ; biolink:category biolink:Gene . OMIM:610495 a owl:Class ; rdfs:label "IFFO1" ; IAO:0000142 PMID:12032826 ; - oboInOwl:hasDbXref UMLS:C2239524 ; oboInOwl:hasExactSynonym "IFFO1", "hom-tes-103 gene", "intermediate filament family orphan 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25900 ; - skos:exactMatch HGNC_symbol:IFFO1 ; + skos:exactMatch UMLS:C2239524, + HGNC:24970, + HGNC_symbol:IFFO1 ; biolink:category biolink:Gene . OMIM:610496 a owl:Class ; @@ -279609,13 +290523,14 @@ OMIM:610496 a owl:Class ; IAO:0000142 PMID:15752761, PMID:25704602, PMID:9305890 ; - oboInOwl:hasDbXref UMLS:C1824198 ; oboInOwl:hasExactSynonym "ARHGAP29", "ptpl1-associated rhogap1", "rho gtpase-activating protein 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9411 ; - skos:exactMatch HGNC_symbol:ARHGAP29 ; + skos:exactMatch UMLS:C1824198, + HGNC:30207, + HGNC_symbol:ARHGAP29 ; biolink:category biolink:Gene . OMIM:610497 a owl:Class ; @@ -279623,28 +290538,30 @@ OMIM:610497 a owl:Class ; IAO:0000142 PMID:14636569, PMID:7826398, PMID:9737713 ; - oboInOwl:hasDbXref UMLS:C1412823 ; oboInOwl:hasExactSynonym "BRE", "brain and reproductive organ-expressed protein", "brcc4", "brcc45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9577 ; - skos:exactMatch HGNC_symbol:BABAM2 ; + skos:exactMatch UMLS:C1412823, + HGNC:1106, + HGNC_symbol:BABAM2 ; biolink:category biolink:Gene . OMIM:610499 a owl:Class ; rdfs:label "RAPGEF6" ; IAO:0000142 PMID:11524421, PMID:12581858 ; - oboInOwl:hasDbXref UMLS:C1427062 ; oboInOwl:hasExactSynonym "RAPGEF6", "pdz domain-containing guanine nucleotide exchange factor 2", "rap guanine nucleotide exchange factor 6", "ras-associating guanine nucleotide exchange factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51735 ; - skos:exactMatch HGNC_symbol:RAPGEF6 ; + skos:exactMatch UMLS:C1427062, + HGNC:20655, + HGNC_symbol:RAPGEF6 ; biolink:category biolink:Gene . OMIM:610500 a owl:Class ; @@ -279653,7 +290570,6 @@ OMIM:610500 a owl:Class ; PMID:11782402, PMID:14557257, PMID:16098192 ; - oboInOwl:hasDbXref UMLS:C1538279 ; oboInOwl:hasExactSynonym "ANKHD1", "ankyrin repeat and kh domain-containing protein 1", "kiaa1085", @@ -279662,7 +290578,9 @@ OMIM:610500 a owl:Class ; "vpr-binding ankyrin repeat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54882 ; - skos:exactMatch HGNC_symbol:ANKHD1 ; + skos:exactMatch UMLS:C1538279, + HGNC:24714, + HGNC_symbol:ANKHD1 ; biolink:category biolink:Gene . OMIM:610501 a owl:Class ; @@ -279670,13 +290588,14 @@ OMIM:610501 a owl:Class ; IAO:0000142 PMID:11214970, PMID:16079250, PMID:21030649 ; - oboInOwl:hasDbXref UMLS:C1826359 ; oboInOwl:hasExactSynonym "NBPF1", "kiaa1693", "neuroblastoma breakpoint family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55672 ; - skos:exactMatch HGNC_symbol:NBPF1 ; + skos:exactMatch UMLS:C1826359, + HGNC:26088, + HGNC_symbol:NBPF1 ; biolink:category biolink:Gene . OMIM:610502 a owl:Class ; @@ -279686,25 +290605,27 @@ OMIM:610502 a owl:Class ; PMID:28638143 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:616732 ; - oboInOwl:hasDbXref UMLS:C1425674 ; oboInOwl:hasExactSynonym "RTN4IP1", "nogo-interacting mitochondrial protein", "reticulon 4-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84816 ; - skos:exactMatch HGNC_symbol:RTN4IP1 ; + skos:exactMatch UMLS:C1425674, + HGNC:18647, + HGNC_symbol:RTN4IP1 ; biolink:category biolink:Gene . OMIM:610503 a owl:Class ; rdfs:label "CDIP1" ; IAO:0000142 PMID:10570909 ; - oboInOwl:hasDbXref UMLS:C1539059 ; oboInOwl:hasExactSynonym "CDIP1", "cell death-inducing p53 target 1", "chromosome 16 open reading frame 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29965 ; - skos:exactMatch HGNC_symbol:CDIP1 ; + skos:exactMatch UMLS:C1539059, + HGNC:13234, + HGNC_symbol:CDIP1 ; biolink:category biolink:Gene . OMIM:610506 a owl:Class ; @@ -279715,28 +290636,30 @@ OMIM:610506 a owl:Class ; PMID:22419161, PMID:26659056, PMID:28860207 ; - oboInOwl:hasDbXref UMLS:C1826536 ; oboInOwl:hasExactSynonym "PAF1", "paf1 RNA polymerase ii-associated factor, s. cerevisiae, homolog of", "paf1 homolog, paf1/rna polymerase 2 complex component", "pancreatic differentiation protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54623 ; - skos:exactMatch HGNC_symbol:PAF1 ; + skos:exactMatch UMLS:C1826536, + HGNC:25459, + HGNC_symbol:PAF1 ; biolink:category biolink:Gene . OMIM:610507 a owl:Class ; rdfs:label "LEO1" ; IAO:0000142 PMID:15632063, PMID:15791002 ; - oboInOwl:hasDbXref UMLS:C1825809 ; oboInOwl:hasExactSynonym "LEO1", "leo1 RNA polymerase 2 associated factor, s. cerevisiae, homolog of", "leo1 homolog, paf1/rna polymerase 2 complex component", "replicative senescence downregulated leo1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123169 ; - skos:exactMatch HGNC_symbol:LEO1 ; + skos:exactMatch UMLS:C1825809, + HGNC:30401, + HGNC_symbol:LEO1 ; biolink:category biolink:Gene . OMIM:610509 a owl:Class ; @@ -279747,26 +290670,28 @@ OMIM:610509 a owl:Class ; PMID:15927954, PMID:16120769, PMID:27055476 ; - oboInOwl:hasDbXref UMLS:C1826827 ; oboInOwl:hasExactSynonym "RIC3", "resistance to inhibitors of cholinesterase 3, c. elegans, homolog of", "ric3 acetylcholine receptor chaperone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79608 ; - skos:exactMatch HGNC_symbol:RIC3 ; + skos:exactMatch UMLS:C1826827, + HGNC:30338, + HGNC_symbol:RIC3 ; biolink:category biolink:Gene . OMIM:610510 a owl:Class ; rdfs:label "BORA" ; IAO:0000142 PMID:16890155, PMID:18566290 ; - oboInOwl:hasDbXref UMLS:C1824391 ; oboInOwl:hasExactSynonym "BORA", "aurora borealis", "chromosome 13 open reading frame 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79866 ; - skos:exactMatch HGNC_symbol:BORA ; + skos:exactMatch UMLS:C1824391, + HGNC:24724, + HGNC_symbol:BORA ; biolink:category biolink:Gene . OMIM:610511 a owl:Class ; @@ -279782,13 +290707,14 @@ OMIM:610511 a owl:Class ; PMID:9007255 ; RO:0002525 CHR:9606chr14q21.1 ; RO:0003303 OMIM:607812 ; - oboInOwl:hasDbXref UMLS:C1419925 ; oboInOwl:hasExactSynonym "SEC23A", "sec23 homolog a, coat complex 2 component", "sec23, s. cerevisiae, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10484 ; - skos:exactMatch HGNC_symbol:SEC23A ; + skos:exactMatch UMLS:C1419925, + HGNC:10701, + HGNC_symbol:SEC23A ; biolink:category biolink:Gene . OMIM:610512 a owl:Class ; @@ -279799,13 +290725,14 @@ OMIM:610512 a owl:Class ; PMID:8898360 ; RO:0002525 CHR:9606chr20p11.23 ; RO:0003303 OMIM:224100 ; - oboInOwl:hasDbXref UMLS:C1419926 ; oboInOwl:hasExactSynonym "SEC23B", "sec23 homolog b, coat complex 2 component", "sec23, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10483 ; - skos:exactMatch HGNC_symbol:SEC23B ; + skos:exactMatch UMLS:C1419926, + HGNC:10702, + HGNC_symbol:SEC23B ; biolink:category biolink:Gene . OMIM:610513 a owl:Class ; @@ -279835,14 +290762,15 @@ OMIM:610513 a owl:Class ; PMID:495089 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:617225 ; - oboInOwl:hasDbXref UMLS:C1540215, - UMLS:C1847640, - UMLS:C4310662 ; oboInOwl:hasExactSynonym "ATP13A2", "atpase 13a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23400 ; - skos:exactMatch HGNC_symbol:ATP13A2 ; + skos:exactMatch UMLS:C1540215, + UMLS:C1847640, + UMLS:C4310662, + HGNC:30213, + HGNC_symbol:ATP13A2 ; biolink:category biolink:Gene . OMIM:610514 a owl:Class ; @@ -279852,28 +290780,30 @@ OMIM:610514 a owl:Class ; PMID:14612400, PMID:15502158, PMID:16046545 ; - oboInOwl:hasDbXref UMLS:C1428920 ; oboInOwl:hasExactSynonym "PHF17", "gene for apoptosis and differentiation 1n epithelia", "kiaa1807", "phd finger protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79960 ; - skos:exactMatch HGNC_symbol:JADE1 ; + skos:exactMatch UMLS:C1428920, + HGNC:30027, + HGNC_symbol:JADE1 ; biolink:category biolink:Gene . OMIM:610515 a owl:Class ; rdfs:label "PHF15" ; IAO:0000142 PMID:14612400, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1427836 ; oboInOwl:hasExactSynonym "PHF15", "jade2", "kiaa0239", "phd finger protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23338 ; - skos:exactMatch HGNC_symbol:JADE2 ; + skos:exactMatch UMLS:C1427836, + HGNC:22984, + HGNC_symbol:JADE2 ; biolink:category biolink:Gene . OMIM:610516 a owl:Class ; @@ -279884,14 +290814,15 @@ OMIM:610516 a owl:Class ; PMID:4434100 ; RO:0002525 CHR:9606chr3p21.2 ; RO:0003303 OMIM:220120 ; - oboInOwl:hasDbXref UMLS:C1864833 ; oboInOwl:hasExactSynonym "GLYCTK", "glycerate kinase", "glyctk1", "glyctk2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132158 ; - skos:exactMatch HGNC_symbol:GLYCTK ; + skos:exactMatch UMLS:C1864833, + HGNC:24247, + HGNC_symbol:GLYCTK ; biolink:category biolink:Gene . OMIM:610517 a owl:Class ; @@ -279899,14 +290830,15 @@ OMIM:610517 a owl:Class ; IAO:0000142 PMID:11214970, PMID:12093160, PMID:16845472 ; - oboInOwl:hasDbXref UMLS:C1539117 ; oboInOwl:hasExactSynonym "CNTNAP3", "contactin-associated protein 3", "contactin-associated protein-like 3", "kiaa1714" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79937 ; - skos:exactMatch HGNC_symbol:CNTNAP3 ; + skos:exactMatch UMLS:C1539117, + HGNC:13834, + HGNC_symbol:CNTNAP3 ; biolink:category biolink:Gene . OMIM:610518 a owl:Class ; @@ -279915,34 +290847,35 @@ OMIM:610518 a owl:Class ; PMID:12093160, PMID:16845472, PMID:24870235 ; - oboInOwl:hasDbXref UMLS:C1539118 ; oboInOwl:hasExactSynonym "CNTNAP4", "contactin-associated protein 4", "contactin-associated protein-like 4", "kiaa1763" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85445 ; - skos:exactMatch HGNC_symbol:CNTNAP4 ; + skos:exactMatch UMLS:C1539118, + HGNC:18747, + HGNC_symbol:CNTNAP4 ; biolink:category biolink:Gene . OMIM:610519 a owl:Class ; rdfs:label "CNTNAP5" ; IAO:0000142 PMID:12093160, PMID:16845472 ; - oboInOwl:hasDbXref UMLS:C1539119 ; oboInOwl:hasExactSynonym "CNTNAP5", "contactin-associated protein 5", "contactin-associated protein-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129684 ; - skos:exactMatch HGNC_symbol:CNTNAP5 ; + skos:exactMatch UMLS:C1539119, + HGNC:18748, + HGNC_symbol:CNTNAP5 ; biolink:category biolink:Gene . OMIM:610520 a owl:Class ; rdfs:label "CD300LG" ; IAO:0000142 PMID:16754720, PMID:16876123 ; - oboInOwl:hasDbXref UMLS:C1824681 ; oboInOwl:hasExactSynonym "CD300LG", "cd300 antigen-like family, member g", "clm9", @@ -279950,14 +290883,15 @@ OMIM:610520 a owl:Class ; "triggering receptor expressed on myeloid cells 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146894 ; - skos:exactMatch HGNC_symbol:CD300LG ; + skos:exactMatch UMLS:C1824681, + HGNC:30455, + HGNC_symbol:CD300LG ; biolink:category biolink:Gene . OMIM:610521 a owl:Class ; rdfs:label "KCTD12" ; IAO:0000142 PMID:15357420, PMID:20400944 ; - oboInOwl:hasDbXref UMLS:C1422834 ; oboInOwl:hasExactSynonym "KCTD12", "chromosome 13 open reading frame 2", "kiaa1778", @@ -279966,18 +290900,21 @@ OMIM:610521 a owl:Class ; "predominantly fetal-expressed t1 domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115207 ; - skos:exactMatch HGNC_symbol:KCTD12 ; + skos:exactMatch UMLS:C1422834, + HGNC:14678, + HGNC_symbol:KCTD12 ; biolink:category biolink:Gene . OMIM:610522 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:16515847 ; - oboInOwl:hasDbXref UMLS:C1864832 ; oboInOwl:hasExactSynonym "cei", "coordinated expression to irxa2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153571 ; - skos:exactMatch HGNC_symbol:C5orf38 ; + skos:exactMatch UMLS:C1864832, + HGNC:24226, + HGNC_symbol:C5orf38 ; biolink:category biolink:Gene . OMIM:610523 a owl:Class ; @@ -279986,13 +290923,14 @@ OMIM:610523 a owl:Class ; PMID:22246503 ; RO:0002525 CHR:9606chr7q32.2 ; RO:0003303 OMIM:614464 ; - oboInOwl:hasDbXref UMLS:C1421198 ; oboInOwl:hasExactSynonym "CEP41", "centrosomal protein, 41-kd", "testis-specific protein a14 testis-specific protein 14, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:95681 ; - skos:exactMatch HGNC_symbol:CEP41 ; + skos:exactMatch UMLS:C1421198, + HGNC:12370, + HGNC_symbol:CEP41 ; biolink:category biolink:Gene . OMIM:610524 a owl:Class ; @@ -280001,7 +290939,6 @@ OMIM:610524 a owl:Class ; PMID:14694139, PMID:16140326, PMID:18077339 ; - oboInOwl:hasDbXref UMLS:C1864667 ; oboInOwl:hasExactSynonym "ERVFRD1", "endogenous retrovirus group frd, member 1", "herv-frd env protein", @@ -280010,13 +290947,14 @@ OMIM:610524 a owl:Class ; "syncytin b, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:405754 ; - skos:exactMatch HGNC_symbol:ERVFRD-1 ; + skos:exactMatch UMLS:C1864667, + HGNC:33823, + HGNC_symbol:ERVFRD-1 ; biolink:category biolink:Gene . OMIM:610525 a owl:Class ; rdfs:label "NT5C1A" ; IAO:0000142 PMID:11133996 ; - oboInOwl:hasDbXref UMLS:C1425101 ; oboInOwl:hasExactSynonym "5-prime-nucleotidase, cytosolic, 1a", "NT5C1A", "cytosolic 5-prime nucleotidase 1", @@ -280024,13 +290962,14 @@ OMIM:610525 a owl:Class ; "nucleotidase, 5-prime, cytosolic, 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84618 ; - skos:exactMatch HGNC_symbol:NT5C1A ; + skos:exactMatch UMLS:C1425101, + HGNC:17819, + HGNC_symbol:NT5C1A ; biolink:category biolink:Gene . OMIM:610526 a owl:Class ; rdfs:label "NT5C1B" ; IAO:0000142 PMID:11690631 ; - oboInOwl:hasDbXref UMLS:C1425100 ; oboInOwl:hasExactSynonym "5-prime-nucleotidase, cytosolic, 1b", "NT5C1B", "autoimmune infertility-related protein", @@ -280038,20 +290977,23 @@ OMIM:610526 a owl:Class ; "nucleotidase, 5-prime, cytosolic, 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93034 ; - skos:exactMatch HGNC_symbol:NT5C1B ; + skos:exactMatch UMLS:C1425100, + HGNC:17818, + HGNC_symbol:NT5C1B ; biolink:category biolink:Gene . OMIM:610527 a owl:Class ; rdfs:label "TXNDC1" ; IAO:0000142 PMID:10757810, PMID:11152479 ; - oboInOwl:hasDbXref UMLS:C1823559 ; oboInOwl:hasExactSynonym "TXNDC1", "thioredoxin domain-containing protein 1", "transmembrane trx-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81542 ; - skos:exactMatch HGNC_symbol:TMX1 ; + skos:exactMatch UMLS:C1823559, + HGNC:15487, + HGNC_symbol:TMX1 ; biolink:category biolink:Gene . OMIM:610528 a owl:Class ; @@ -280070,38 +291012,41 @@ OMIM:610528 a owl:Class ; PMID:27602517 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:615032 ; - oboInOwl:hasDbXref UMLS:C1538450 ; oboInOwl:hasExactSynonym "CHD8", "axis duplication inhibitor", "chromodomain helicase dna-binding protein 8", "kiaa1564" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57680 ; - skos:exactMatch HGNC_symbol:CHD8 ; + skos:exactMatch UMLS:C1538450, + HGNC:20153, + HGNC_symbol:CHD8 ; biolink:category biolink:Gene . OMIM:610529 a owl:Class ; rdfs:label "TUSC1" ; IAO:0000142 PMID:15208665 ; - oboInOwl:hasDbXref UMLS:C1540131 ; oboInOwl:hasExactSynonym "TUSC1", "tsg9", "tumor suppressor candidate 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286319 ; - skos:exactMatch HGNC_symbol:TUSC1 ; + skos:exactMatch UMLS:C1540131, + HGNC:31010, + HGNC_symbol:TUSC1 ; biolink:category biolink:Gene . OMIM:610530 a owl:Class ; rdfs:label "TRIM41" ; IAO:0000142 PMID:11549288, PMID:16022281 ; - oboInOwl:hasDbXref UMLS:C1425950 ; oboInOwl:hasExactSynonym "TRIM41", "tripartite motif-containing protein 41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90933 ; - skos:exactMatch HGNC_symbol:TRIM41 ; + skos:exactMatch UMLS:C1425950, + HGNC:19013, + HGNC_symbol:TRIM41 ; biolink:category biolink:Gene . OMIM:610531 a owl:Class ; @@ -280112,14 +291057,15 @@ OMIM:610531 a owl:Class ; PMID:21911699 ; RO:0002525 CHR:9606chr7p15.3 ; RO:0003303 OMIM:610532 ; - oboInOwl:hasDbXref UMLS:C1825268 ; oboInOwl:hasExactSynonym "FAM126A", "downregulated by ctnnb1, protein a", "family with sequence similarity 126, member a", "hyccin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84668 ; - skos:exactMatch HGNC_symbol:FAM126A ; + skos:exactMatch UMLS:C1825268, + HGNC:24587, + HGNC_symbol:FAM126A ; biolink:category biolink:Gene . OMIM:610533 a owl:Class ; @@ -280135,14 +291081,15 @@ OMIM:610533 a owl:Class ; PMID:23926262 ; RO:0002525 CHR:9606chr5q34 ; RO:0003303 OMIM:615602 ; - oboInOwl:hasDbXref UMLS:C1823863 ; oboInOwl:hasExactSynonym "WWC1", "kiaa0869", "kidney and brain expressed protein", "ww, c2, and coiled-coil domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23286 ; - skos:exactMatch HGNC_symbol:WWC1 ; + skos:exactMatch UMLS:C1823863, + HGNC:29435, + HGNC_symbol:WWC1 ; biolink:category biolink:Gene . OMIM:610534 a owl:Class ; @@ -280156,27 +291103,29 @@ OMIM:610534 a owl:Class ; PMID:30289615 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:616459 ; - oboInOwl:hasDbXref UMLS:C1539228 ; oboInOwl:hasExactSynonym "DCPS", "dcs1, c. elegans, homolog of", "decapping enzyme, scavenger", "histidine triad nucleotide-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28960 ; - skos:exactMatch HGNC_symbol:DCPS ; + skos:exactMatch UMLS:C1539228, + HGNC:29812, + HGNC_symbol:DCPS ; biolink:category biolink:Gene . OMIM:610537 a owl:Class ; rdfs:label "DPP7" ; IAO:0000142 PMID:10567372, PMID:11067927 ; - oboInOwl:hasDbXref UMLS:C1423031 ; oboInOwl:hasExactSynonym "DPP7", "dipeptidyl peptidase 7", "quiescent cell proline dipeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29952 ; - skos:exactMatch HGNC_symbol:DPP7 ; + skos:exactMatch UMLS:C1423031, + HGNC:14892, + HGNC_symbol:DPP7 ; biolink:category biolink:Gene . OMIM:610538 a owl:Class ; @@ -280186,13 +291135,14 @@ OMIM:610538 a owl:Class ; PMID:26046368 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:616435 ; - oboInOwl:hasDbXref UMLS:C1540147 ; oboInOwl:hasExactSynonym "UBE2T", "hspc150", "ubiquitin-conjugating enzyme e2t" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29089 ; - skos:exactMatch HGNC_symbol:UBE2T ; + skos:exactMatch UMLS:C1540147, + HGNC:25009, + HGNC_symbol:UBE2T ; biolink:category biolink:Gene . OMIM:610539 a owl:Class ; @@ -280205,10 +291155,10 @@ OMIM:610539 a owl:Class ; PMID:3024666, PMID:8460394, PMID:9930900 ; - oboInOwl:hasDbXref UMLS:C1864651 ; oboInOwl:hasExactSynonym "GDSAPC", "gaucher disease, atypical, due to saposin c deficiency", "saposin c deficiency" ; + skos:exactMatch UMLS:C1864651 ; biolink:category biolink:Disease . OMIM:610540 a owl:Class ; @@ -280220,7 +291170,6 @@ OMIM:610540 a owl:Class ; PMID:19656776 ; RO:0002525 CHR:9606chr20q13.32 ; RO:0003303 OMIM:603233 ; - oboInOwl:hasDbXref UMLS:C1864650 ; oboInOwl:hasExactSynonym "GNASAS1", "gnas complex locus, antisense transcript 1", "gnas1, antisense", @@ -280229,7 +291178,9 @@ OMIM:610540 a owl:Class ; "sang" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149775 ; - skos:exactMatch HGNC_symbol:GNAS-AS1 ; + skos:exactMatch UMLS:C1864650, + HGNC:24872, + HGNC_symbol:GNAS-AS1 ; biolink:category biolink:Gene . OMIM:610541 a owl:Class ; @@ -280237,14 +291188,15 @@ OMIM:610541 a owl:Class ; IAO:0000142 PMID:11872655, PMID:16907705, PMID:7498521 ; - oboInOwl:hasDbXref UMLS:C1423073 ; oboInOwl:hasExactSynonym "PPP1R3B", "pp1g, hepatic", "protein phosphatase 1, glycogen-targeting subunit, liver", "protein phosphatase 1, regulatory subunit 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79660 ; - skos:exactMatch HGNC_symbol:PPP1R3B ; + skos:exactMatch UMLS:C1423073, + HGNC:14942, + HGNC_symbol:PPP1R3B ; biolink:category biolink:Gene . OMIM:610543 a owl:Class ; @@ -280263,56 +291215,60 @@ OMIM:610543 a owl:Class ; PMID:8488874, PMID:8599359 ; RO:0002525 CHR:9606chr16p13.3 ; - oboInOwl:hasDbXref UMLS:C1864648 ; oboInOwl:hasExactSynonym "chromosome 16p13.3 deletion syndrome, proximal", "rsts deletion syndrome", "rubinstein-taybi deletion syndrome" ; rdfs:subClassOf OMIMPS:180849 ; + skos:exactMatch UMLS:C1864648 ; biolink:category biolink:Disease . OMIM:610544 a owl:Class ; rdfs:label "IGFL1" ; IAO:0000142 PMID:16890402, PMID:21454693 ; - oboInOwl:hasDbXref UMLS:C1825579 ; oboInOwl:hasExactSynonym "IGFL1", "igf-like family member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374918 ; - skos:exactMatch HGNC_symbol:IGFL1 ; + skos:exactMatch UMLS:C1825579, + HGNC:24093, + HGNC_symbol:IGFL1 ; biolink:category biolink:Gene . OMIM:610545 a owl:Class ; rdfs:label "IGFL2" ; IAO:0000142 PMID:16890402 ; - oboInOwl:hasDbXref UMLS:C1825582 ; oboInOwl:hasExactSynonym "IGFL2", "igf-like family member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147920 ; - skos:exactMatch HGNC_symbol:IGFL2 ; + skos:exactMatch UMLS:C1825582, + HGNC:32929, + HGNC_symbol:IGFL2 ; biolink:category biolink:Gene . OMIM:610546 a owl:Class ; rdfs:label "IGFL3" ; IAO:0000142 PMID:16890402 ; - oboInOwl:hasDbXref UMLS:C1825583 ; oboInOwl:hasExactSynonym "IGFL3", "igf-like family member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388555 ; - skos:exactMatch HGNC_symbol:IGFL3 ; + skos:exactMatch UMLS:C1825583, + HGNC:32930, + HGNC_symbol:IGFL3 ; biolink:category biolink:Gene . OMIM:610547 a owl:Class ; rdfs:label "IGFL4" ; IAO:0000142 PMID:16890402 ; - oboInOwl:hasDbXref UMLS:C1825584 ; oboInOwl:hasExactSynonym "IGFL4", "igf-like family member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:444882 ; - skos:exactMatch HGNC_symbol:IGFL4 ; + skos:exactMatch UMLS:C1825584, + HGNC:32931, + HGNC_symbol:IGFL4 ; biolink:category biolink:Gene . OMIM:610548 a owl:Class ; @@ -280320,7 +291276,6 @@ OMIM:610548 a owl:Class ; IAO:0000142 PMID:16949364, PMID:9626505, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1538916 ; oboInOwl:hasExactSynonym "AQR", "aquarius intron-binding spliceosomal factor", "aquarius, mouse, homolog of", @@ -280328,7 +291283,9 @@ OMIM:610548 a owl:Class ; "kiaa0560" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9716 ; - skos:exactMatch HGNC_symbol:AQR ; + skos:exactMatch UMLS:C1538916, + HGNC:29513, + HGNC_symbol:AQR ; biolink:category biolink:Gene . OMIM:610549 a owl:Class ; @@ -280350,11 +291307,11 @@ OMIM:610549 a owl:Class ; PMID:6749340, PMID:7136687, PMID:8288049 ; - oboInOwl:hasDbXref UMLS:C0342278 ; oboInOwl:hasExactSynonym "diabetes mellitus, insulin-resistant, with acanthosis nigricans", "diabetes mellitus, insulin-resistant, with acanthosis nigricans, iia a", "insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans", "iran, iia a" ; + skos:exactMatch UMLS:C0342278 ; biolink:category biolink:Disease . OMIM:610550 a owl:Class ; @@ -280378,7 +291335,6 @@ OMIM:610550 a owl:Class ; PMID:9482646 ; RO:0002525 CHR:9606chr10q22.3 ; RO:0003303 OMIM:250850 ; - oboInOwl:hasDbXref UMLS:C1417038 ; oboInOwl:hasExactSynonym "MAT1A", "mata1", "methionine adenosyltransferase i, alpha", @@ -280386,7 +291342,9 @@ OMIM:610550 a owl:Class ; "sams, liver-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4143 ; - skos:exactMatch HGNC_symbol:MAT1A ; + skos:exactMatch UMLS:C1417038, + HGNC:6903, + HGNC_symbol:MAT1A ; biolink:category biolink:Gene . OMIM:610552 a owl:Class ; @@ -280399,15 +291357,16 @@ OMIM:610552 a owl:Class ; PMID:27545681 ; RO:0002525 CHR:9606chr3q22.1 ; RO:0003303 OMIM:617132 ; - oboInOwl:hasDbXref UMLS:C1428004, - UMLS:C4310699, - UMLS:C4310700 ; oboInOwl:hasExactSynonym "UBA5", "ubiquitin-activating enzyme e1 domain-containing 1", "ubiquitin-like modifier activating enzyme 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79876 ; - skos:exactMatch HGNC_symbol:UBA5 ; + skos:exactMatch UMLS:C1428004, + UMLS:C4310699, + UMLS:C4310700, + HGNC:23230, + HGNC_symbol:UBA5 ; biolink:category biolink:Gene . OMIM:610553 a owl:Class ; @@ -280418,12 +291377,13 @@ OMIM:610553 a owl:Class ; PMID:29868776 ; RO:0002525 CHR:9606chr13q13.3 ; RO:0003303 OMIM:617899 ; - oboInOwl:hasDbXref UMLS:C1823591 ; oboInOwl:hasExactSynonym "UFM1", "ubiquitin-fold modifier 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51569 ; - skos:exactMatch HGNC_symbol:UFM1 ; + skos:exactMatch UMLS:C1823591, + HGNC:20597, + HGNC_symbol:UFM1 ; biolink:category biolink:Gene . OMIM:610554 a owl:Class ; @@ -280433,13 +291393,14 @@ OMIM:610554 a owl:Class ; PMID:29868776 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:618076 ; - oboInOwl:hasDbXref UMLS:C1823590 ; oboInOwl:hasExactSynonym "UFC1", "ubiquitin-fold modifier-conjugating enzyme 1", "ufm1-conjugating enzyme 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51506 ; - skos:exactMatch HGNC_symbol:UFC1 ; + skos:exactMatch UMLS:C1823590, + HGNC:26941, + HGNC_symbol:UFC1 ; biolink:category biolink:Gene . OMIM:610555 a owl:Class ; @@ -280447,38 +291408,41 @@ OMIM:610555 a owl:Class ; IAO:0000142 PMID:11677243, PMID:12464682, PMID:17062753 ; - oboInOwl:hasDbXref UMLS:C1538973 ; oboInOwl:hasExactSynonym "C1GALT1", "core 1 beta-3-gal-t", "core 1 synthase, glycoprotein-n-acetylgalactosamine 3-beta-galactosyltransferase, 1", "t synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56913 ; - skos:exactMatch HGNC_symbol:C1GALT1 ; + skos:exactMatch UMLS:C1538973, + HGNC:24337, + HGNC_symbol:C1GALT1 ; biolink:category biolink:Gene . OMIM:610556 a owl:Class ; rdfs:label "HAR1A" ; IAO:0000142 PMID:16915236 ; - oboInOwl:hasDbXref UMLS:C1825447 ; oboInOwl:hasExactSynonym "HAR1A", "har1f", "highly accelerated region gene 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:768096 ; - skos:exactMatch HGNC_symbol:HAR1A ; + skos:exactMatch UMLS:C1825447, + HGNC:33117, + HGNC_symbol:HAR1A ; biolink:category biolink:Gene . OMIM:610557 a owl:Class ; rdfs:label "HAR1B" ; IAO:0000142 PMID:16915236 ; - oboInOwl:hasDbXref UMLS:C1825448 ; oboInOwl:hasExactSynonym "HAR1B", "har1r", "highly accelerated region gene 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:768097 ; - skos:exactMatch HGNC_symbol:HAR1B ; + skos:exactMatch UMLS:C1825448, + HGNC:33118, + HGNC_symbol:HAR1B ; biolink:category biolink:Gene . OMIM:610558 a owl:Class ; @@ -280487,7 +291451,6 @@ OMIM:610558 a owl:Class ; PMID:16962653, PMID:17043309, PMID:1849280 ; - oboInOwl:hasDbXref UMLS:C1425758 ; oboInOwl:hasExactSynonym "MAPKAP1", "jc310", "mekk2-interacting protein 1", @@ -280495,45 +291458,50 @@ OMIM:610558 a owl:Class ; "sapk-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79109 ; - skos:exactMatch HGNC_symbol:MAPKAP1 ; + skos:exactMatch UMLS:C1425758, + HGNC:18752, + HGNC_symbol:MAPKAP1 ; biolink:category biolink:Gene . OMIM:610559 a owl:Class ; rdfs:label "RASSF4" ; IAO:0000142 PMID:15375500, PMID:15574778 ; - oboInOwl:hasDbXref UMLS:C1427128 ; oboInOwl:hasExactSynonym "RASSF4", "ad037", "ras association domain family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83937 ; - skos:exactMatch HGNC_symbol:RASSF4 ; + skos:exactMatch UMLS:C1427128, + HGNC:20793, + HGNC_symbol:RASSF4 ; biolink:category biolink:Gene . OMIM:610560 a owl:Class ; rdfs:label "PRSS36" ; IAO:0000142 PMID:15536082 ; - oboInOwl:hasDbXref UMLS:C1538731 ; oboInOwl:hasExactSynonym "PRSS36", "polyserase 2", "polyserine protease 2", "protease, serine, 36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146547 ; - skos:exactMatch HGNC_symbol:PRSS36 ; + skos:exactMatch UMLS:C1538731, + HGNC:26906, + HGNC_symbol:PRSS36 ; biolink:category biolink:Gene . OMIM:610561 a owl:Class ; rdfs:label "PRSS53" ; IAO:0000142 PMID:16566820 ; - oboInOwl:hasDbXref UMLS:C1864636 ; oboInOwl:hasExactSynonym "PRSS53", "polyserase 3", "protease, serine, 53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339105 ; - skos:exactMatch HGNC_symbol:PRSS53 ; + skos:exactMatch UMLS:C1864636, + HGNC:34407, + HGNC_symbol:PRSS53 ; biolink:category biolink:Gene . OMIM:610562 a owl:Class ; @@ -280545,7 +291513,6 @@ OMIM:610562 a owl:Class ; PMID:25225661, PMID:26000482, PMID:31827283 ; - oboInOwl:hasDbXref UMLS:C1823924 ; oboInOwl:hasExactSynonym "ZC3H12A", "mcp1-induced protein", "mcpip1", @@ -280553,20 +291520,23 @@ OMIM:610562 a owl:Class ; "zinc finger ccch domain-containing protein 12a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80149 ; - skos:exactMatch HGNC_symbol:ZC3H12A ; + skos:exactMatch UMLS:C1823924, + HGNC:26259, + HGNC_symbol:ZC3H12A ; biolink:category biolink:Gene . OMIM:610563 a owl:Class ; rdfs:label "KPNA6" ; IAO:0000142 PMID:10523667, PMID:16298512 ; - oboInOwl:hasDbXref UMLS:C1416704 ; oboInOwl:hasExactSynonym "KPNA6", "importin alpha-7", "karyopherin alpha-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23633 ; - skos:exactMatch HGNC_symbol:KPNA6 ; + skos:exactMatch UMLS:C1416704, + HGNC:6399, + HGNC_symbol:KPNA6 ; biolink:category biolink:Gene . OMIM:610564 a owl:Class ; @@ -280577,7 +291547,6 @@ OMIM:610564 a owl:Class ; PMID:20495179 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:614652 ; - oboInOwl:hasDbXref UMLS:C1826561 ; oboInOwl:hasExactSynonym "PDSS2", "chromosome 6 open reading frame 210", "d-less polyprenyl pyrophosphate synthase 1", @@ -280585,7 +291554,9 @@ OMIM:610564 a owl:Class ; "prenyl diphosphate synthase, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57107 ; - skos:exactMatch HGNC_symbol:PDSS2 ; + skos:exactMatch UMLS:C1826561, + HGNC:23041, + HGNC_symbol:PDSS2 ; biolink:category biolink:Gene . OMIM:610565 a owl:Class ; @@ -280595,13 +291566,14 @@ OMIM:610565 a owl:Class ; PMID:25098561 ; RO:0002525 CHR:9606chr22q13.1 ; RO:0003303 OMIM:616059 ; - oboInOwl:hasDbXref UMLS:C1414106 ; oboInOwl:hasExactSynonym "DNAL4", "dnalc4, mouse, homolog of", "dynein, axonemal, light chain 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10126 ; - skos:exactMatch HGNC_symbol:DNAL4 ; + skos:exactMatch UMLS:C1414106, + HGNC:2955, + HGNC_symbol:DNAL4 ; biolink:category biolink:Gene . OMIM:610566 a owl:Class ; @@ -280614,28 +291586,30 @@ OMIM:610566 a owl:Class ; PMID:19898489, PMID:19965651, PMID:20951969 ; - oboInOwl:hasDbXref UMLS:C1826002 ; oboInOwl:hasExactSynonym "MIR146A", "micro RNA 146a", "mirn146a", "mirna146a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406938 ; - skos:exactMatch HGNC_symbol:MIR146A ; + skos:exactMatch UMLS:C1826002, + HGNC:31533, + HGNC_symbol:MIR146A ; biolink:category biolink:Gene . OMIM:610567 a owl:Class ; rdfs:label "MIR146B" ; IAO:0000142 PMID:16885212, PMID:18270258 ; - oboInOwl:hasDbXref UMLS:C1826003 ; oboInOwl:hasExactSynonym "MIR146B", "micro RNA 146b", "mirn146b", "mirna146b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574447 ; - skos:exactMatch HGNC_symbol:MIR146B ; + skos:exactMatch UMLS:C1826003, + HGNC:32079, + HGNC_symbol:MIR146B ; biolink:category biolink:Gene . OMIM:610568 a owl:Class ; @@ -280647,52 +291621,56 @@ OMIM:610568 a owl:Class ; PMID:26849110 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:616833 ; - oboInOwl:hasDbXref UMLS:C1823988, - UMLS:C1864633 ; oboInOwl:hasExactSynonym "ZNF687", "kiaa1441", "zinc finger protein 687", "znf687/runx1 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57592 ; - skos:exactMatch HGNC_symbol:ZNF687 ; + skos:exactMatch UMLS:C1823988, + UMLS:C1864633, + HGNC:29277, + HGNC_symbol:ZNF687 ; biolink:category biolink:Gene . OMIM:610569 a owl:Class ; rdfs:label "USP24" ; IAO:0000142 PMID:10470851, PMID:14715245 ; - oboInOwl:hasDbXref UMLS:C1421401 ; oboInOwl:hasExactSynonym "USP24", "kiaa1057", "ubiquitin-specific protease 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23358 ; - skos:exactMatch HGNC_symbol:USP24 ; + skos:exactMatch UMLS:C1421401, + HGNC:12623, + HGNC_symbol:USP24 ; biolink:category biolink:Gene . OMIM:610570 a owl:Class ; rdfs:label "USP40" ; IAO:0000142 PMID:14715245 ; - oboInOwl:hasDbXref UMLS:C1426657 ; oboInOwl:hasExactSynonym "USP40", "ubiquitin-specific protease 40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55230 ; - skos:exactMatch HGNC_symbol:USP40 ; + skos:exactMatch UMLS:C1426657, + HGNC:20069, + HGNC_symbol:USP40 ; biolink:category biolink:Gene . OMIM:610571 a owl:Class ; rdfs:label "FKBP11" ; IAO:0000142 PMID:12036304, PMID:16596453 ; - oboInOwl:hasDbXref UMLS:C1425656 ; oboInOwl:hasExactSynonym "FKBP11", "fk506-binding protein 11", "fk506-binding protein, 19-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51303 ; - skos:exactMatch HGNC_symbol:FKBP11 ; + skos:exactMatch UMLS:C1425656, + HGNC:18624, + HGNC_symbol:FKBP11 ; biolink:category biolink:Gene . OMIM:610572 a owl:Class ; @@ -280703,14 +291681,15 @@ OMIM:610572 a owl:Class ; PMID:19364627 ; RO:0002525 CHR:9606chr5q13.2 ; RO:0003303 OMIM:610153 ; - oboInOwl:hasDbXref UMLS:C1537667 ; oboInOwl:hasExactSynonym "MARVELD2", "marvd2", "marvel domain-containing protein 2", "tricellulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153562 ; - skos:exactMatch HGNC_symbol:MARVELD2 ; + skos:exactMatch UMLS:C1537667, + HGNC:26401, + HGNC_symbol:MARVELD2 ; biolink:category biolink:Gene . OMIM:610573 a owl:Class ; @@ -280725,14 +291704,15 @@ OMIM:610573 a owl:Class ; PMID:4702713 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:206800 ; - oboInOwl:hasDbXref UMLS:C1826946 ; oboInOwl:hasExactSynonym "RSPO4", "cristin4", "r-spondin 4", "r-spondin family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343637 ; - skos:exactMatch HGNC_symbol:RSPO4 ; + skos:exactMatch UMLS:C1826946, + HGNC:16175, + HGNC_symbol:RSPO4 ; biolink:category biolink:Gene . OMIM:610574 a owl:Class ; @@ -280744,7 +291724,6 @@ OMIM:610574 a owl:Class ; PMID:17468756, PMID:22895193, PMID:28813421 ; - oboInOwl:hasDbXref UMLS:C1704989 ; oboInOwl:hasExactSynonym "RSPO3", "cristin1", "pwtsr", @@ -280752,7 +291731,9 @@ OMIM:610574 a owl:Class ; "r-spondin family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84870 ; - skos:exactMatch HGNC_symbol:RSPO3 ; + skos:exactMatch UMLS:C1704989, + HGNC:20866, + HGNC_symbol:RSPO3 ; biolink:category biolink:Gene . OMIM:610575 a owl:Class ; @@ -280770,14 +291751,15 @@ OMIM:610575 a owl:Class ; PMID:29769720 ; RO:0002525 CHR:9606chr8q23.1 ; RO:0003303 OMIM:618021 ; - oboInOwl:hasDbXref UMLS:C1826945 ; oboInOwl:hasExactSynonym "RSPO2", "cristin2", "r-spondin 2", "r-spondin family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340419 ; - skos:exactMatch HGNC_symbol:RSPO2 ; + skos:exactMatch UMLS:C1826945, + HGNC:28583, + HGNC_symbol:RSPO2 ; biolink:category biolink:Gene . OMIM:610576 a owl:Class ; @@ -280785,48 +291767,52 @@ OMIM:610576 a owl:Class ; IAO:0000142 PMID:11396949, PMID:12297274, PMID:19911011 ; - oboInOwl:hasDbXref UMLS:C1422424 ; oboInOwl:hasExactSynonym "ARHGAP9", "rho gtpase-activating protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64333 ; - skos:exactMatch HGNC_symbol:ARHGAP9 ; + skos:exactMatch UMLS:C1422424, + HGNC:14130, + HGNC_symbol:ARHGAP9 ; biolink:category biolink:Gene . OMIM:610577 a owl:Class ; rdfs:label "ARHGAP12" ; IAO:0000142 PMID:11854031, PMID:12297274 ; - oboInOwl:hasDbXref UMLS:C1424207 ; oboInOwl:hasExactSynonym "ARHGAP12", "rho gtpase-activating protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94134 ; - skos:exactMatch HGNC_symbol:ARHGAP12 ; + skos:exactMatch UMLS:C1424207, + HGNC:16348, + HGNC_symbol:ARHGAP12 ; biolink:category biolink:Gene . OMIM:610578 a owl:Class ; rdfs:label "ARHGAP15" ; IAO:0000142 PMID:12650940 ; - oboInOwl:hasDbXref UMLS:C1427256 ; oboInOwl:hasExactSynonym "ARHGAP15", "bm046", "rho gtpase-activating protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55843 ; - skos:exactMatch HGNC_symbol:ARHGAP15 ; + skos:exactMatch UMLS:C1427256, + HGNC:21030, + HGNC_symbol:ARHGAP15 ; biolink:category biolink:Gene . OMIM:610579 a owl:Class ; rdfs:label "RCSD1" ; IAO:0000142 PMID:15850461 ; - oboInOwl:hasDbXref UMLS:C1826789 ; oboInOwl:hasExactSynonym "RCSD1", "capz-interacting protein", "rcsd domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92241 ; - skos:exactMatch HGNC_symbol:RCSD1 ; + skos:exactMatch UMLS:C1826789, + HGNC:28310, + HGNC_symbol:RCSD1 ; biolink:category biolink:Gene . OMIM:610580 a owl:Class ; @@ -280835,25 +291821,27 @@ OMIM:610580 a owl:Class ; PMID:15199164, PMID:15540201, PMID:16818649 ; - oboInOwl:hasDbXref UMLS:C1538648 ; oboInOwl:hasExactSynonym "PIM3", "oncogene pim3", "serine/threonine protein kinase pim3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:415116 ; - skos:exactMatch HGNC_symbol:PIM3 ; + skos:exactMatch UMLS:C1538648, + HGNC:19310, + HGNC_symbol:PIM3 ; biolink:category biolink:Gene . OMIM:610581 a owl:Class ; rdfs:label "COPG2IT1" ; IAO:0000142 PMID:10995575 ; - oboInOwl:hasDbXref UMLS:C1413612 ; oboInOwl:hasExactSynonym "COPG2IT1", "coatomer protein complex, subunit gamma-2, intronic transcript 1", "copg2 intronic transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53844 ; - skos:exactMatch HGNC_symbol:COPG2IT1 ; + skos:exactMatch UMLS:C1413612, + HGNC:2238, + HGNC_symbol:COPG2IT1 ; biolink:category biolink:Gene . OMIM:610582 a owl:Class ; @@ -280864,11 +291852,11 @@ OMIM:610582 a owl:Class ; PMID:16205880, PMID:17327377, PMID:17635943 ; - oboInOwl:hasDbXref UMLS:C1864623, - ORPHA:99886 ; oboInOwl:hasExactSynonym "diabetes mellitus, iia ii, autosomal dominant", "diabetes mellitus, transient neonatal, 3", "tndm3" ; + skos:exactMatch UMLS:C1864623, + ORPHA:99886 ; biolink:category biolink:Disease . OMIM:610583 a owl:Class ; @@ -280876,37 +291864,40 @@ OMIM:610583 a owl:Class ; IAO:0000142 PMID:10231032, PMID:12183362, PMID:17032765 ; - oboInOwl:hasDbXref UMLS:C1424871 ; oboInOwl:hasExactSynonym "ANKRD6", "ankyrin repeat domain-containing protein 6", "diversin", "kiaa0957" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22881 ; - skos:exactMatch HGNC_symbol:ANKRD6 ; + skos:exactMatch UMLS:C1424871, + HGNC:17280, + HGNC_symbol:ANKRD6 ; biolink:category biolink:Gene . OMIM:610584 a owl:Class ; rdfs:label "TRIM67" ; IAO:0000142 PMID:16434393 ; - oboInOwl:hasDbXref UMLS:C1540071 ; oboInOwl:hasExactSynonym "TRIM67", "trim9-like", "tripartite motif-containing protein 67" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440730 ; - skos:exactMatch HGNC_symbol:TRIM67 ; + skos:exactMatch UMLS:C1540071, + HGNC:31859, + HGNC_symbol:TRIM67 ; biolink:category biolink:Gene . OMIM:610585 a owl:Class ; rdfs:label "ARHGAP22" ; IAO:0000142 PMID:15254788 ; - oboInOwl:hasDbXref UMLS:C1428960 ; oboInOwl:hasExactSynonym "ARHGAP22", "rho gtpase-activating protein 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58504 ; - skos:exactMatch HGNC_symbol:ARHGAP22 ; + skos:exactMatch UMLS:C1428960, + HGNC:30320, + HGNC_symbol:ARHGAP22 ; biolink:category biolink:Gene . OMIM:610586 a owl:Class ; @@ -280917,7 +291908,6 @@ OMIM:610586 a owl:Class ; PMID:16862148, PMID:21911940, PMID:21926999 ; - oboInOwl:hasDbXref UMLS:C1428476 ; oboInOwl:hasExactSynonym "ARHGAP24", "filamin a-associated rhogap", "p73rhogap", @@ -280925,96 +291915,105 @@ OMIM:610586 a owl:Class ; "rho gtpase-activating protein 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83478 ; - skos:exactMatch HGNC_symbol:ARHGAP24 ; + skos:exactMatch UMLS:C1428476, + HGNC:25361, + HGNC_symbol:ARHGAP24 ; biolink:category biolink:Gene . OMIM:610587 a owl:Class ; rdfs:label "ARHGAP25" ; IAO:0000142 PMID:15254788, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1428755 ; oboInOwl:hasExactSynonym "ARHGAP25", "kiaa0053", "rho gtpase-activating protein 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9938 ; - skos:exactMatch HGNC_symbol:ARHGAP25 ; + skos:exactMatch UMLS:C1428755, + HGNC:28951, + HGNC_symbol:ARHGAP25 ; biolink:category biolink:Gene . OMIM:610588 a owl:Class ; rdfs:label "DDN" ; IAO:0000142 PMID:8915891, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1539230 ; oboInOwl:hasExactSynonym "DDN", "dendrin", "kiaa0749" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23109 ; - skos:exactMatch HGNC_symbol:DDN ; + skos:exactMatch UMLS:C1539230, + HGNC:24458, + HGNC_symbol:DDN ; biolink:category biolink:Gene . OMIM:610589 a owl:Class ; rdfs:label "ARHGAP11A" ; IAO:0000142 PMID:7584026, PMID:7584028 ; - oboInOwl:hasDbXref UMLS:C1538922 ; oboInOwl:hasExactSynonym "ARHGAP11A", "kiaa0013", "rho gtpase-activating protein 11a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9824 ; - skos:exactMatch HGNC_symbol:ARHGAP11A ; + skos:exactMatch UMLS:C1538922, + HGNC:15783, + HGNC_symbol:ARHGAP11A ; biolink:category biolink:Gene . OMIM:610590 a owl:Class ; rdfs:label "ARHGAP23" ; IAO:0000142 PMID:10819331, PMID:15254754 ; - oboInOwl:hasDbXref UMLS:C1428826 ; oboInOwl:hasExactSynonym "ARHGAP23", "kiaa1501", "rho gtpase-activating protein 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57636 ; - skos:exactMatch HGNC_symbol:ARHGAP23 ; + skos:exactMatch UMLS:C1428826, + HGNC:29293, + HGNC_symbol:ARHGAP23 ; biolink:category biolink:Gene . OMIM:610591 a owl:Class ; rdfs:label "ARHGAP27" ; IAO:0000142 PMID:15147912, PMID:15492870 ; - oboInOwl:hasDbXref UMLS:C1538926 ; oboInOwl:hasExactSynonym "ARHGAP27", "cin85-associated multidomain-containing rhogap1", "rho gtpase-activating protein 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201176 ; - skos:exactMatch HGNC_symbol:ARHGAP27 ; + skos:exactMatch UMLS:C1538926, + HGNC:31813, + HGNC_symbol:ARHGAP27 ; biolink:category biolink:Gene . OMIM:610592 a owl:Class ; rdfs:label "ARHGAP28" ; IAO:0000142 PMID:10718198 ; - oboInOwl:hasDbXref UMLS:C1538927 ; oboInOwl:hasExactSynonym "ARHGAP28", "kiaa1314", "rho gtpase-activating protein 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79822 ; - skos:exactMatch HGNC_symbol:ARHGAP28 ; + skos:exactMatch UMLS:C1538927, + HGNC:25509, + HGNC_symbol:ARHGAP28 ; biolink:category biolink:Gene . OMIM:610593 a owl:Class ; rdfs:label "MAP6D1" ; IAO:0000142 PMID:16837464 ; - oboInOwl:hasDbXref UMLS:C1825945 ; oboInOwl:hasExactSynonym "MAP6D1", "map6 domain-containing protein 1", "stop-like protein, 21-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79929 ; - skos:exactMatch HGNC_symbol:MAP6D1 ; + skos:exactMatch UMLS:C1825945, + HGNC:25753, + HGNC_symbol:MAP6D1 ; biolink:category biolink:Gene . OMIM:610594 a owl:Class ; @@ -281026,13 +292025,14 @@ OMIM:610594 a owl:Class ; PMID:27303042 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:619705 ; - oboInOwl:hasDbXref UMLS:C1825308 ; oboInOwl:hasExactSynonym "FNIP1", "folliculin-interacting protein 1", "kiaa1961" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:96459 ; - skos:exactMatch HGNC_symbol:FNIP1 ; + skos:exactMatch UMLS:C1825308, + HGNC:29418, + HGNC_symbol:FNIP1 ; biolink:category biolink:Gene . OMIM:610595 a owl:Class ; @@ -281043,7 +292043,6 @@ OMIM:610595 a owl:Class ; PMID:7799934 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:255100 ; - oboInOwl:hasDbXref UMLS:C1825303 ; oboInOwl:hasExactSynonym "FLAD1", "fad synthetase", "fad1, s. cerevisiae, homolog of", @@ -281052,7 +292051,9 @@ OMIM:610595 a owl:Class ; "fmn adenylyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80308 ; - skos:exactMatch HGNC_symbol:FLAD1 ; + skos:exactMatch UMLS:C1825303, + HGNC:24671, + HGNC_symbol:FLAD1 ; biolink:category biolink:Gene . OMIM:610596 a owl:Class ; @@ -281064,13 +292065,14 @@ OMIM:610596 a owl:Class ; PMID:25825154, PMID:8590280, PMID:9829985 ; - oboInOwl:hasDbXref UMLS:C1423549 ; oboInOwl:hasExactSynonym "BOP1", "block of proliferation 1", "kiaa0124" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23246 ; - skos:exactMatch HGNC_symbol:BOP1 ; + skos:exactMatch UMLS:C1423549, + HGNC:15519, + HGNC_symbol:BOP1 ; biolink:category biolink:Gene . OMIM:610597 a owl:Class ; @@ -281078,14 +292080,15 @@ OMIM:610597 a owl:Class ; IAO:0000142 PMID:11853319, PMID:15467761, PMID:15885502 ; - oboInOwl:hasDbXref UMLS:C1427468 ; oboInOwl:hasExactSynonym "GRWD1", "glutamate-rich wd repeat-containing protein 1", "grwd", "kiaa1942" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83743 ; - skos:exactMatch HGNC_symbol:GRWD1 ; + skos:exactMatch UMLS:C1427468, + HGNC:21270, + HGNC_symbol:GRWD1 ; biolink:category biolink:Gene . OMIM:610598 a owl:Class ; @@ -281095,13 +292098,14 @@ OMIM:610598 a owl:Class ; PMID:9501213 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:610599 ; - oboInOwl:hasDbXref UMLS:C1826694 ; oboInOwl:hasExactSynonym "PRCD", "photoreceptor disc component", "prcd, dog, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:768206 ; - skos:exactMatch HGNC_symbol:PRCD ; + skos:exactMatch UMLS:C1826694, + HGNC:32528, + HGNC_symbol:PRCD ; biolink:category biolink:Gene . OMIM:610600 a owl:Class ; @@ -281123,7 +292127,6 @@ OMIM:610600 a owl:Class ; PMID:947946, PMID:9625333, PMID:9814506 ; - oboInOwl:hasDbXref UMLS:C3463917 ; oboInOwl:hasExactSynonym "18-oxidase deficiency", "aldosterone deficiency 2", "aldosterone deficiency due to deficiency of steroid 18-oxidase", @@ -281131,6 +292134,7 @@ OMIM:610600 a owl:Class ; "corticosterone methyloxidase iia 2 deficiency", "hyperreninemic hypoaldosteronism, familial, 1", "steroid 18-oxidase deficiency" ; + skos:exactMatch UMLS:C3463917 ; biolink:category biolink:Disease . OMIM:610601 a owl:Class ; @@ -281140,7 +292144,6 @@ OMIM:610601 a owl:Class ; PMID:11327827, PMID:16829021, PMID:8018728 ; - oboInOwl:hasDbXref UMLS:C1367517 ; oboInOwl:hasExactSynonym "KLK15", "aco protease", "kallikrein 15", @@ -281149,7 +292152,9 @@ OMIM:610601 a owl:Class ; "prostinogen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55554 ; - skos:exactMatch HGNC_symbol:KLK15 ; + skos:exactMatch UMLS:C1367517, + HGNC:20453, + HGNC_symbol:KLK15 ; biolink:category biolink:Gene . OMIM:610602 a owl:Class ; @@ -281158,14 +292163,15 @@ OMIM:610602 a owl:Class ; PMID:16642038, PMID:17979886, PMID:18432238 ; - oboInOwl:hasDbXref UMLS:C1823175 ; oboInOwl:hasExactSynonym "ALKBH2", "abh2", "alkb homolog 2, alpha-ketoglutarate-dependent dioxygenase", "alkb, e. coli, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121642 ; - skos:exactMatch HGNC_symbol:ALKBH2 ; + skos:exactMatch UMLS:C1823175, + HGNC:32487, + HGNC_symbol:ALKBH2 ; biolink:category biolink:Gene . OMIM:610603 a owl:Class ; @@ -281174,7 +292180,6 @@ OMIM:610603 a owl:Class ; PMID:16033822, PMID:16642038, PMID:17979886 ; - oboInOwl:hasDbXref UMLS:C1823176 ; oboInOwl:hasExactSynonym "ALKBH3", "abh3", "alkb homolog 3, alpha-ketoglutarate-dependent dioxygenase", @@ -281183,13 +292188,14 @@ OMIM:610603 a owl:Class ; "prostate cancer antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221120 ; - skos:exactMatch HGNC_symbol:ALKBH3 ; + skos:exactMatch UMLS:C1823176, + HGNC:30141, + HGNC_symbol:ALKBH3 ; biolink:category biolink:Gene . OMIM:610604 a owl:Class ; rdfs:label "KIR3DP1" ; IAO:0000142 PMID:15580659 ; - oboInOwl:hasDbXref UMLS:C1825712 ; oboInOwl:hasExactSynonym "KIR3DP1", "cd158c", "killer cell immunoglobulin-like receptor, three domains, pseudogene 1", @@ -281198,32 +292204,36 @@ OMIM:610604 a owl:Class ; "kirx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:548594 ; - skos:exactMatch HGNC_symbol:KIR3DP1 ; + skos:exactMatch UMLS:C1825712, + HGNC:16343, + HGNC_symbol:KIR3DP1 ; biolink:category biolink:Gene . OMIM:610605 a owl:Class ; rdfs:label "CPEB2" ; IAO:0000142 PMID:12672660 ; - oboInOwl:hasDbXref UMLS:C1427735 ; oboInOwl:hasExactSynonym "CPEB2", "cytoplasmic polyadenylation element-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132864 ; - skos:exactMatch HGNC_symbol:CPEB2 ; + skos:exactMatch UMLS:C1427735, + HGNC:21745, + HGNC_symbol:CPEB2 ; biolink:category biolink:Gene . OMIM:610606 a owl:Class ; rdfs:label "CPEB3" ; IAO:0000142 PMID:10231032, PMID:16990549 ; - oboInOwl:hasDbXref UMLS:C1427736 ; oboInOwl:hasExactSynonym "CPEB3", "cpeb3 ribozyme", "cytoplasmic polyadenylation element-binding protein 3", "kiaa0940" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22849 ; - skos:exactMatch HGNC_symbol:CPEB3 ; + skos:exactMatch UMLS:C1427736, + HGNC:21746, + HGNC_symbol:CPEB3 ; biolink:category biolink:Gene . OMIM:610607 a owl:Class ; @@ -281231,14 +292241,15 @@ OMIM:610607 a owl:Class ; IAO:0000142 PMID:11214970, PMID:22138752, PMID:30111840 ; - oboInOwl:hasDbXref UMLS:C1427737 ; oboInOwl:hasExactSynonym "CPEB4", "cpe-binding protein 4", "cytoplasmic polyadenylation element-binding protein 4", "kiaa1673" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80315 ; - skos:exactMatch HGNC_symbol:CPEB4 ; + skos:exactMatch UMLS:C1427737, + HGNC:21747, + HGNC_symbol:CPEB4 ; biolink:category biolink:Gene . OMIM:610608 a owl:Class ; @@ -281250,8 +292261,6 @@ OMIM:610608 a owl:Class ; PMID:8724849 ; RO:0002525 CHR:9606chr20p11.21 ; RO:0003303 OMIM:617827 ; - oboInOwl:hasDbXref UMLS:C1825347, - UMLS:C4693356 ; oboInOwl:hasExactSynonym "GINS1", "gins complex", "gins complex subunit 1", @@ -281259,33 +292268,38 @@ OMIM:610608 a owl:Class ; "psf1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9837 ; - skos:exactMatch HGNC_symbol:GINS1 ; + skos:exactMatch UMLS:C1825347, + UMLS:C4693356, + HGNC:28980, + HGNC_symbol:GINS1 ; biolink:category biolink:Gene . OMIM:610609 a owl:Class ; rdfs:label "GINS2" ; IAO:0000142 PMID:12730134, PMID:16287864 ; - oboInOwl:hasDbXref UMLS:C1825348 ; oboInOwl:hasExactSynonym "GINS2", "gins complex subunit 2", "psf2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51659 ; - skos:exactMatch HGNC_symbol:GINS2 ; + skos:exactMatch UMLS:C1825348, + HGNC:24575, + HGNC_symbol:GINS2 ; biolink:category biolink:Gene . OMIM:610610 a owl:Class ; rdfs:label "GINS3" ; IAO:0000142 PMID:12730134, PMID:16287864 ; - oboInOwl:hasDbXref UMLS:C1825349 ; oboInOwl:hasExactSynonym "GINS3", "gins complex subunit 3", "psf3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64785 ; - skos:exactMatch HGNC_symbol:GINS3 ; + skos:exactMatch UMLS:C1825349, + HGNC:25851, + HGNC_symbol:GINS3 ; biolink:category biolink:Gene . OMIM:610611 a owl:Class ; @@ -281293,13 +292307,14 @@ OMIM:610611 a owl:Class ; IAO:0000142 PMID:12730134, PMID:16287864, PMID:16338220 ; - oboInOwl:hasDbXref UMLS:C1825350 ; oboInOwl:hasExactSynonym "GINS4", "gins complex subunit 4", "sld5, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84296 ; - skos:exactMatch HGNC_symbol:GINS4 ; + skos:exactMatch UMLS:C1825350, + HGNC:28226, + HGNC_symbol:GINS4 ; biolink:category biolink:Gene . OMIM:610613 a owl:Class ; @@ -281335,34 +292350,35 @@ OMIM:610613 a owl:Class ; PMID:9302260 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:103900 ; - oboInOwl:hasDbXref UMLS:C1413856 ; oboInOwl:hasExactSynonym "CYP11B1", "cytochrome p450, subfamily xib, polypeptide 1", "p450c11", "steroid 11-beta-hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1584 ; - skos:exactMatch HGNC_symbol:CYP11B1 ; + skos:exactMatch UMLS:C1413856, + HGNC:2591, + HGNC_symbol:CYP11B1 ; biolink:category biolink:Gene . OMIM:610614 a owl:Class ; rdfs:label "TBRG1" ; IAO:0000142 PMID:16582619, PMID:7654366 ; - oboInOwl:hasDbXref UMLS:C1428872 ; oboInOwl:hasExactSynonym "TBRG1", "nuclear interactor of arf and mdm2", "tgfb regulator 1", "transforming growth factor-beta regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84897 ; - skos:exactMatch HGNC_symbol:TBRG1 ; + skos:exactMatch UMLS:C1428872, + HGNC:29551, + HGNC_symbol:TBRG1 ; biolink:category biolink:Gene . OMIM:610615 a owl:Class ; rdfs:label "RABL6" ; IAO:0000142 PMID:16582619 ; - oboInOwl:hasDbXref UMLS:C1428403 ; oboInOwl:hasExactSynonym "RABL6", "chromosome 9 open reading frame 86", "partner of arf", @@ -281370,21 +292386,24 @@ OMIM:610615 a owl:Class ; "rab-like protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55684 ; - skos:exactMatch HGNC_symbol:RABL6 ; + skos:exactMatch UMLS:C1428403, + HGNC:24703, + HGNC_symbol:RABL6 ; biolink:category biolink:Gene . OMIM:610616 a owl:Class ; rdfs:label "ANKRD12" ; IAO:0000142 PMID:10048485, PMID:16582619 ; - oboInOwl:hasDbXref UMLS:C1428796 ; oboInOwl:hasExactSynonym "ANKRD12", "ankyrin repeat domain-containing protein 12", "ankyrin repeat-containing cofactor 2", "kiaa0874" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23253 ; - skos:exactMatch HGNC_symbol:ANKRD12 ; + skos:exactMatch UMLS:C1428796, + HGNC:29135, + HGNC_symbol:ANKRD12 ; biolink:category biolink:Gene . OMIM:610617 a owl:Class ; @@ -281392,7 +292411,6 @@ OMIM:610617 a owl:Class ; IAO:0000142 PMID:11278750, PMID:16949367, PMID:17041588 ; - oboInOwl:hasDbXref UMLS:C1824983 ; oboInOwl:hasExactSynonym "DTL", "cdt2, s. pombe, homolog of", "ddb1- and cul4-associated factor 2", @@ -281402,7 +292420,9 @@ OMIM:610617 a owl:Class ; "retinoic acid-regulated nuclear matrix-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51514 ; - skos:exactMatch HGNC_symbol:DTL ; + skos:exactMatch UMLS:C1824983, + HGNC:30288, + HGNC_symbol:DTL ; biolink:category biolink:Gene . OMIM:610619 a owl:Class ; @@ -281437,26 +292457,28 @@ OMIM:610619 a owl:Class ; PMID:9490684 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:234000 ; - oboInOwl:hasDbXref UMLS:C1414499 ; oboInOwl:hasExactSynonym "F12", "coagulation factor 12", "hageman factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2161 ; - skos:exactMatch HGNC_symbol:F12 ; + skos:exactMatch UMLS:C1414499, + HGNC:3530, + HGNC_symbol:F12 ; biolink:category biolink:Gene . OMIM:610620 a owl:Class ; rdfs:label "ADPRHL1" ; IAO:0000142 PMID:12070318, PMID:16278211 ; - oboInOwl:hasDbXref UMLS:C1427480 ; oboInOwl:hasExactSynonym "ADPRHL1", "adp-ribosylhydrolase 2", "adp-ribosylhydrolase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113622 ; - skos:exactMatch HGNC_symbol:ADPRHL1 ; + skos:exactMatch UMLS:C1427480, + HGNC:21303, + HGNC_symbol:ADPRHL1 ; biolink:category biolink:Gene . OMIM:610621 a owl:Class ; @@ -281467,11 +292489,6 @@ OMIM:610621 a owl:Class ; PMID:27158779 ; RO:0002525 CHR:9606chr4q28.1 ; RO:0003303 OMIM:617925 ; - oboInOwl:hasDbXref UMLS:C1825613, - UMLS:C2986382, - UMLS:C4693616, - UMLS:C4693640, - UMLS:C4694024 ; oboInOwl:hasExactSynonym "INTU", "inturned planar cell polarity protein", "inturned, drosophila, homolog of", @@ -281479,7 +292496,13 @@ OMIM:610621 a owl:Class ; "pdz domain-containing 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27152 ; - skos:exactMatch HGNC_symbol:INTU ; + skos:exactMatch UMLS:C1825613, + UMLS:C2986382, + UMLS:C4693616, + UMLS:C4693640, + UMLS:C4694024, + HGNC:29239, + HGNC_symbol:INTU ; biolink:category biolink:Gene . OMIM:610622 a owl:Class ; @@ -281489,14 +292512,15 @@ OMIM:610622 a owl:Class ; PMID:27158779 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:182940 ; - oboInOwl:hasDbXref UMLS:C1825324, - UMLS:C3891448 ; oboInOwl:hasExactSynonym "FUZ", "fuzzy planar cell polarity protein", "fuzzy, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80199 ; - skos:exactMatch HGNC_symbol:FUZ ; + skos:exactMatch UMLS:C1825324, + UMLS:C3891448, + HGNC:26219, + HGNC_symbol:FUZ ; biolink:category biolink:Gene . OMIM:610624 a owl:Class ; @@ -281508,38 +292532,41 @@ OMIM:610624 a owl:Class ; PMID:30401461 ; RO:0002525 CHR:9606chr1p34.3 ; RO:0003303 OMIM:618170 ; - oboInOwl:hasDbXref UMLS:C1427481 ; oboInOwl:hasExactSynonym "ADPRHL2", "adp-ribosylhydrolase 3", "adp-ribosylhydrolase-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54936 ; - skos:exactMatch HGNC_symbol:ADPRS ; + skos:exactMatch UMLS:C1427481, + HGNC:21304, + HGNC_symbol:ADPRS ; biolink:category biolink:Gene . OMIM:610625 a owl:Class ; rdfs:label "ART5" ; IAO:0000142 PMID:11587854, PMID:12070318 ; - oboInOwl:hasDbXref UMLS:C1540199 ; oboInOwl:hasExactSynonym "ART5", "adp-ribosyltransferase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116969 ; - skos:exactMatch HGNC_symbol:ART5 ; + skos:exactMatch UMLS:C1540199, + HGNC:24049, + HGNC_symbol:ART5 ; biolink:category biolink:Gene . OMIM:610626 a owl:Class ; rdfs:label "PLPP5" ; IAO:0000142 PMID:16261160 ; - oboInOwl:hasDbXref UMLS:C1826649 ; oboInOwl:hasExactSynonym "PLPP5", "htpap", "phospholipid phosphatase 5", "ppap2 domain-containing protein 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84513 ; - skos:exactMatch HGNC_symbol:PLPP5 ; + skos:exactMatch UMLS:C1826649, + HGNC:25026, + HGNC_symbol:PLPP5 ; biolink:category biolink:Gene . OMIM:610627 a owl:Class ; @@ -281550,46 +292577,49 @@ OMIM:610627 a owl:Class ; PMID:27484237 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:166760 ; - oboInOwl:hasDbXref UMLS:C1825487, - UMLS:C1833692, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "A2ML1", "alpha-2-macroglobulin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144568 ; - skos:exactMatch HGNC_symbol:A2ML1 ; + skos:exactMatch UMLS:C1825487, + UMLS:C1833692, + UMLS:C2986382, + HGNC:23336, + HGNC_symbol:A2ML1 ; biolink:category biolink:Gene . OMIM:610631 a owl:Class ; IAO:0100001 OMIM:610630 ; - oboInOwl:hasDbXref UMLS:C1538751 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1538751 . OMIM:610632 a owl:Class ; rdfs:label "MICU2" ; IAO:0000142 PMID:15944804, PMID:24231807, PMID:29053821 ; - oboInOwl:hasDbXref UMLS:C1539331, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "MICU2", "ef-hand domain family, member a1", "mitochondrial calcium uptake protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221154 ; - skos:exactMatch HGNC_symbol:MICU2 ; + skos:exactMatch UMLS:C1539331, + UMLS:C2986382, + HGNC:31830, + HGNC_symbol:MICU2 ; biolink:category biolink:Gene . OMIM:610633 a owl:Class ; rdfs:label "MICU3" ; IAO:0000142 PMID:15944804 ; - oboInOwl:hasDbXref UMLS:C1539332 ; oboInOwl:hasExactSynonym "MICU3", "ef-hand domain family, member a2", "mitochondrial calcium uptake protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286097 ; - skos:exactMatch HGNC_symbol:MICU3 ; + skos:exactMatch UMLS:C1539332, + HGNC:27820, + HGNC_symbol:MICU3 ; biolink:category biolink:Gene . OMIM:610634 a owl:Class ; @@ -281603,12 +292633,13 @@ OMIM:610635 a owl:Class ; PMID:21791690 ; RO:0002525 CHR:9606chr8q22.3 ; RO:0003303 OMIM:614266 ; - oboInOwl:hasDbXref UMLS:C1425808 ; oboInOwl:hasExactSynonym "CTHRC1", "collagen triple-helix repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115908 ; - skos:exactMatch HGNC_symbol:CTHRC1 ; + skos:exactMatch UMLS:C1425808, + HGNC:18831, + HGNC_symbol:CTHRC1 ; biolink:category biolink:Gene . OMIM:610636 a owl:Class ; @@ -281617,14 +292648,15 @@ OMIM:610636 a owl:Class ; PMID:16251535, PMID:16982751, PMID:29661829 ; - oboInOwl:hasDbXref UMLS:C1537730 ; oboInOwl:hasExactSynonym "MIR27B", "micro RNA 27b", "mirn27b", "mirna27b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407019 ; - skos:exactMatch HGNC_symbol:MIR27B ; + skos:exactMatch UMLS:C1537730, + HGNC:31614, + HGNC_symbol:MIR27B ; biolink:category biolink:Gene . OMIM:610637 a owl:Class ; @@ -281632,37 +292664,40 @@ OMIM:610637 a owl:Class ; IAO:0000142 PMID:14722266, PMID:16936636, PMID:18305173 ; - oboInOwl:hasDbXref UMLS:C1537660 ; oboInOwl:hasExactSynonym "MARCHF5", "march 5", "membrane-associated ring-ch finger protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54708 ; - skos:exactMatch HGNC_symbol:MARCHF5 ; + skos:exactMatch UMLS:C1537660, + HGNC:26025, + HGNC_symbol:MARCHF5 ; biolink:category biolink:Gene . OMIM:610638 a owl:Class ; rdfs:label "IGSF5" ; IAO:0000142 PMID:12773569 ; - oboInOwl:hasDbXref UMLS:C1416374 ; oboInOwl:hasExactSynonym "IGSF5", "immunoglobulin superfamily, member 5", "junctional adhesion molecule 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150084 ; - skos:exactMatch HGNC_symbol:IGSF5 ; + skos:exactMatch UMLS:C1416374, + HGNC:5952, + HGNC_symbol:IGSF5 ; biolink:category biolink:Gene . OMIM:610639 a owl:Class ; rdfs:label "GRID2IP1" ; IAO:0000142 PMID:16835239 ; - oboInOwl:hasDbXref UMLS:C1539616 ; oboInOwl:hasExactSynonym "GRID2IP1", "delphilin", "grid2-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:392862 ; - skos:exactMatch HGNC_symbol:GRID2IP ; + skos:exactMatch UMLS:C1539616, + HGNC:18464, + HGNC_symbol:GRID2IP ; biolink:category biolink:Gene . OMIM:610640 a owl:Class ; @@ -281676,21 +292711,21 @@ OMIM:610640 a owl:Class ; PMID:28106072, PMID:28192787, PMID:31292544 ; - oboInOwl:hasDbXref UMLS:C1538134 ; oboInOwl:hasExactSynonym "YTHDF2", "yth domain family, member 2", "yth n6-methyladenosine rna-binding protein 2", "ythdf2/runx1 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51441 ; - skos:exactMatch HGNC_symbol:YTHDF2 ; + skos:exactMatch UMLS:C1538134, + HGNC:31675, + HGNC_symbol:YTHDF2 ; biolink:category biolink:Gene . OMIM:610641 a owl:Class ; rdfs:label "TUT1" ; IAO:0000142 PMID:16790842, PMID:18288197 ; - oboInOwl:hasDbXref UMLS:C1823555 ; oboInOwl:hasExactSynonym "TUT1", "nuclear speckle-targeted pipk1a-regulated poly(a) polymerase", "pap-associated domain-containing protein 2", @@ -281699,20 +292734,23 @@ OMIM:610641 a owl:Class ; "u6-tutase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64852 ; - skos:exactMatch HGNC_symbol:TUT1 ; + skos:exactMatch UMLS:C1823555, + HGNC:26184, + HGNC_symbol:TUT1 ; biolink:category biolink:Gene . OMIM:610642 a owl:Class ; rdfs:label "ERP27" ; IAO:0000142 PMID:16940051 ; - oboInOwl:hasDbXref UMLS:C1824367 ; oboInOwl:hasExactSynonym "ERP27", "chromosome 12 open reading frame 46", "endoplasmic reticulum protein, 27-kd", "erp27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121506 ; - skos:exactMatch HGNC_symbol:ERP27 ; + skos:exactMatch UMLS:C1824367, + HGNC:26495, + HGNC_symbol:ERP27 ; biolink:category biolink:Gene . OMIM:610643 a owl:Class ; @@ -281724,8 +292762,6 @@ OMIM:610643 a owl:Class ; PMID:20943269, PMID:21172653, PMID:21479604 ; - oboInOwl:hasDbXref UMLS:C1537472, - UMLS:C3277759 ; oboInOwl:hasExactSynonym "CIP2A", "autoantigen, 90-kd", "cancerous inhibitor of pp2a", @@ -281735,31 +292771,36 @@ OMIM:610643 a owl:Class ; "p90" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57650 ; - skos:exactMatch HGNC_symbol:CIP2A ; + skos:exactMatch UMLS:C1537472, + UMLS:C3277759, + HGNC:29302, + HGNC_symbol:CIP2A ; biolink:category biolink:Gene . OMIM:610645 a owl:Class ; rdfs:label "CIB3" ; IAO:0000142 PMID:15574431 ; - oboInOwl:hasDbXref UMLS:C1428390 ; oboInOwl:hasExactSynonym "CIB3", "calcium- and integrin-binding protein 3", "kinase-interacting protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117286 ; - skos:exactMatch HGNC_symbol:CIB3 ; + skos:exactMatch UMLS:C1428390, + HGNC:24580, + HGNC_symbol:CIB3 ; biolink:category biolink:Gene . OMIM:610646 a owl:Class ; rdfs:label "CIB4" ; IAO:0000142 PMID:15574431 ; - oboInOwl:hasDbXref UMLS:C1857712 ; oboInOwl:hasExactSynonym "CIB4", "calcium- and integrin-binding protein 4", "kinase-interacting protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130106 ; - skos:exactMatch HGNC_symbol:CIB4 ; + skos:exactMatch UMLS:C1857712, + HGNC:33703, + HGNC_symbol:CIB4 ; biolink:category biolink:Gene . OMIM:610647 a owl:Class ; @@ -281771,7 +292812,6 @@ OMIM:610647 a owl:Class ; PMID:20643647 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:614063 ; - oboInOwl:hasDbXref UMLS:C1826352 ; oboInOwl:hasExactSynonym "NAT8L", "aspartate n-acetyltransferase", "camell0, xenopus, homolog of, 3", @@ -281779,7 +292819,9 @@ OMIM:610647 a owl:Class ; "nat8-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339983 ; - skos:exactMatch HGNC_symbol:NAT8L ; + skos:exactMatch UMLS:C1826352, + HGNC:26742, + HGNC_symbol:NAT8L ; biolink:category biolink:Gene . OMIM:610648 a owl:Class ; @@ -281795,8 +292837,6 @@ OMIM:610648 a owl:Class ; PMID:8798433 ; RO:0002525 CHR:9606chr12q24.11-q24.12 ; RO:0003303 OMIM:618141 ; - oboInOwl:hasDbXref UMLS:C1426179, - UMLS:C4748341 ; oboInOwl:hasExactSynonym "CUX2", "cdp2", "cut, drosophila, homolog of, 2", @@ -281805,7 +292845,10 @@ OMIM:610648 a owl:Class ; "kiaa0293" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23316 ; - skos:exactMatch HGNC_symbol:CUX2 ; + skos:exactMatch UMLS:C1426179, + UMLS:C4748341, + HGNC:19347, + HGNC_symbol:CUX2 ; biolink:category biolink:Gene . OMIM:610650 a owl:Class ; @@ -281818,14 +292861,15 @@ OMIM:610650 a owl:Class ; PMID:18497827, PMID:19683493, PMID:8033103 ; - oboInOwl:hasDbXref UMLS:C1423708 ; oboInOwl:hasExactSynonym "ADRM1", "adhesion-regulating molecule 1", "arm1", "rpn13, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11047 ; - skos:exactMatch HGNC_symbol:ADRM1 ; + skos:exactMatch UMLS:C1423708, + HGNC:15759, + HGNC_symbol:ADRM1 ; biolink:category biolink:Gene . OMIM:610652 a owl:Class ; @@ -281838,19 +292882,19 @@ OMIM:610652 a owl:Class ; PMID:27058447 ; RO:0002525 CHR:9606chr6q27 ; RO:0003303 OMIM:616922 ; - oboInOwl:hasDbXref UMLS:C1418412 ; oboInOwl:hasExactSynonym "PDE10A", "phosphodiesterase 10a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10846 ; - skos:exactMatch HGNC_symbol:PDE10A ; + skos:exactMatch UMLS:C1418412, + HGNC:8772, + HGNC_symbol:PDE10A ; biolink:category biolink:Gene . OMIM:610653 a owl:Class ; rdfs:label "RRP1" ; IAO:0000142 PMID:10341208, PMID:9192856 ; - oboInOwl:hasDbXref UMLS:C1857700 ; oboInOwl:hasExactSynonym "RRP1", "novel nuclear protein 1", "nucleolar protein, 52-kd", @@ -281858,7 +292902,9 @@ OMIM:610653 a owl:Class ; "ribosomal rna-processing 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8568 ; - skos:exactMatch HGNC_symbol:RRP1 ; + skos:exactMatch UMLS:C1857700, + HGNC:18785, + HGNC_symbol:RRP1 ; biolink:category biolink:Gene . OMIM:610654 a owl:Class ; @@ -281867,7 +292913,6 @@ OMIM:610654 a owl:Class ; PMID:20926688, PMID:8724849, PMID:9192856 ; - oboInOwl:hasDbXref UMLS:C1428276 ; oboInOwl:hasExactSynonym "RRP1B", "kiaa0179 gene", "nnp1-like", @@ -281875,19 +292920,22 @@ OMIM:610654 a owl:Class ; "ribosomal rna-processing protein 1, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23076 ; - skos:exactMatch HGNC_symbol:RRP1B ; + skos:exactMatch UMLS:C1428276, + HGNC:23818, + HGNC_symbol:RRP1B ; biolink:category biolink:Gene . OMIM:610656 a owl:Class ; rdfs:label "CCBL2" ; IAO:0000142 PMID:16376499 ; - oboInOwl:hasDbXref UMLS:C1824541 ; oboInOwl:hasExactSynonym "CCBL2", "cysteine conjugate beta-lyase 2", "kynurenine aminotransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56267 ; - skos:exactMatch HGNC_symbol:KYAT3 ; + skos:exactMatch UMLS:C1824541, + HGNC:33238, + HGNC_symbol:KYAT3 ; biolink:category biolink:Gene . OMIM:610657 a owl:Class ; @@ -281901,14 +292949,15 @@ OMIM:610657 a owl:Class ; PMID:8724849 ; RO:0002525 CHR:9606chr8q24.13 ; RO:0003303 OMIM:603563 ; - oboInOwl:hasDbXref UMLS:C1825654 ; oboInOwl:hasExactSynonym "WASHC5", "kiaa0196", "strumpellin", "wash complex, subunit 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9897 ; - skos:exactMatch HGNC_symbol:WASHC5 ; + skos:exactMatch UMLS:C1825654, + HGNC:28984, + HGNC_symbol:WASHC5 ; biolink:category biolink:Gene . OMIM:610658 a owl:Class ; @@ -281920,13 +292969,14 @@ OMIM:610658 a owl:Class ; PMID:31270148, PMID:7644499, PMID:8188213 ; - oboInOwl:hasDbXref UMLS:C1424865 ; oboInOwl:hasExactSynonym "TRIM29", "ataxia-telangiectasia group d-associated protein", "tripartite motif-containing protein 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23650 ; - skos:exactMatch HGNC_symbol:TRIM29 ; + skos:exactMatch UMLS:C1424865, + HGNC:17274, + HGNC_symbol:TRIM29 ; biolink:category biolink:Gene . OMIM:610659 a owl:Class ; @@ -281934,26 +292984,28 @@ OMIM:610659 a owl:Class ; IAO:0000142 PMID:10574462, PMID:1372507, PMID:9828146 ; - oboInOwl:hasDbXref UMLS:C1415290 ; oboInOwl:hasExactSynonym "GRID1", "glutamate receptor, ionotropic, delta 1", "kiaa1220" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2894 ; - skos:exactMatch HGNC_symbol:GRID1 ; + skos:exactMatch UMLS:C1415290, + HGNC:4575, + HGNC_symbol:GRID1 ; biolink:category biolink:Gene . OMIM:610660 a owl:Class ; rdfs:label "GLYR1" ; IAO:0000142 PMID:16352664 ; - oboInOwl:hasDbXref UMLS:C1857684 ; oboInOwl:hasExactSynonym "GLYR1", "cytokine-like nuclear factor n-pac", "glyoxylate reductase 1 homolog", "nuclear protein, 60-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84656 ; - skos:exactMatch HGNC_symbol:GLYR1 ; + skos:exactMatch UMLS:C1857684, + HGNC:24434, + HGNC_symbol:GLYR1 ; biolink:category biolink:Gene . OMIM:610661 a owl:Class ; @@ -281968,14 +293020,15 @@ OMIM:610661 a owl:Class ; PMID:31957011 ; RO:0002525 CHR:9606chr3p24.2 ; RO:0003303 OMIM:615273 ; - oboInOwl:hasDbXref UMLS:C1425023, - UMLS:C3808991 ; oboInOwl:hasExactSynonym "NGLY1", "n-glycanase 1", "peptide-n-glycanase 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55768 ; - skos:exactMatch HGNC_symbol:NGLY1 ; + skos:exactMatch UMLS:C1425023, + UMLS:C3808991, + HGNC:17646, + HGNC_symbol:NGLY1 ; biolink:category biolink:Gene . OMIM:610662 a owl:Class ; @@ -281984,40 +293037,43 @@ OMIM:610662 a owl:Class ; PMID:26293662 ; RO:0002525 CHR:9606chr4q22.1 ; RO:0003303 OMIM:616809 ; - oboInOwl:hasDbXref UMLS:C1826587, - UMLS:C3540252 ; oboInOwl:hasExactSynonym "PIGY", "phosphatidylinositol glycan anchor biosynthesis class y protein", "pigy upstream reading frame", "prey" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84992 ; - skos:exactMatch HGNC_symbol:PIGY ; + skos:exactMatch UMLS:C1826587, + UMLS:C3540252, + HGNC:28213, + HGNC_symbol:PIGY ; biolink:category biolink:Gene . OMIM:610663 a owl:Class ; rdfs:label "SMYD2" ; IAO:0000142 PMID:16805913, PMID:17108971 ; - oboInOwl:hasDbXref UMLS:C1427221 ; oboInOwl:hasExactSynonym "SMYD2", "set and mynd domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56950 ; - skos:exactMatch HGNC_symbol:SMYD2 ; + skos:exactMatch UMLS:C1427221, + HGNC:20982, + HGNC_symbol:SMYD2 ; biolink:category biolink:Gene . OMIM:610664 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:16289875, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1825648 ; oboInOwl:hasExactSynonym "bcox1", "breast cancer-overexpressed gene 1", "kiaa0100" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9703 ; - skos:exactMatch HGNC_symbol:KIAA0100 ; + skos:exactMatch UMLS:C1825648, + HGNC:28960, + HGNC_symbol:KIAA0100 ; biolink:category biolink:Gene . OMIM:610665 a owl:Class ; @@ -282043,8 +293099,6 @@ OMIM:610665 a owl:Class ; PMID:4134542, PMID:7536989, PMID:7836402 ; - oboInOwl:hasDbXref UMLS:C1414556, - UMLS:C4017227 ; oboInOwl:hasExactSynonym "FCGR3B", "cd16b", "fc fragment of igg receptor iiib", @@ -282057,18 +293111,22 @@ OMIM:610665 a owl:Class ; "neutrophil-specific antigen nc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2215 ; - skos:exactMatch HGNC_symbol:FCGR3B ; + skos:exactMatch UMLS:C1414556, + UMLS:C4017227, + HGNC:3620, + HGNC_symbol:FCGR3B ; biolink:category biolink:Gene . OMIM:610666 a owl:Class ; rdfs:label "NRSN2" ; IAO:0000142 PMID:16527258 ; - oboInOwl:hasDbXref UMLS:C1826472 ; oboInOwl:hasExactSynonym "NRSN2", "neurensin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80023 ; - skos:exactMatch HGNC_symbol:NRSN2 ; + skos:exactMatch UMLS:C1826472, + HGNC:16229, + HGNC_symbol:NRSN2 ; biolink:category biolink:Gene . OMIM:610667 a owl:Class ; @@ -282077,25 +293135,27 @@ OMIM:610667 a owl:Class ; PMID:16402389, PMID:9034192, PMID:9353303 ; - oboInOwl:hasDbXref UMLS:C1426328 ; oboInOwl:hasExactSynonym "UCHL5", "ubiquitin carboxyl-terminal hydrolase l5", "uch37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51377 ; - skos:exactMatch HGNC_symbol:UCHL5 ; + skos:exactMatch UMLS:C1426328, + HGNC:19678, + HGNC_symbol:UCHL5 ; biolink:category biolink:Gene . OMIM:610668 a owl:Class ; rdfs:label "INSC" ; IAO:0000142 PMID:16458856 ; - oboInOwl:hasDbXref UMLS:C1825602 ; oboInOwl:hasExactSynonym "INSC", "insc spindle orientation adaptor protein", "inscuteable, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387755 ; - skos:exactMatch HGNC_symbol:INSC ; + skos:exactMatch UMLS:C1825602, + HGNC:33116, + HGNC_symbol:INSC ; biolink:category biolink:Gene . OMIM:610669 a owl:Class ; @@ -282104,14 +293164,15 @@ OMIM:610669 a owl:Class ; PMID:12753905, PMID:15169888, PMID:16633345 ; - oboInOwl:hasDbXref UMLS:C1426024 ; oboInOwl:hasExactSynonym "TNIP2", "a20-binding inhibitor of nfkb 2", "flip1", "tnfaip3-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79155 ; - skos:exactMatch HGNC_symbol:TNIP2 ; + skos:exactMatch UMLS:C1426024, + HGNC:19118, + HGNC_symbol:TNIP2 ; biolink:category biolink:Gene . OMIM:610670 a owl:Class ; @@ -282120,27 +293181,29 @@ OMIM:610670 a owl:Class ; PMID:23176821 ; RO:0002525 CHR:9606chr4q25 ; RO:0003303 OMIM:615030 ; - oboInOwl:hasDbXref UMLS:C1427016, - UMLS:C3539507 ; oboInOwl:hasExactSynonym "CYP2U1", "cytochrome p450, family 2, subfamily u, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113612 ; - skos:exactMatch HGNC_symbol:CYP2U1 ; + skos:exactMatch UMLS:C1427016, + UMLS:C3539507, + HGNC:20582, + HGNC_symbol:CYP2U1 ; biolink:category biolink:Gene . OMIM:610671 a owl:Class ; rdfs:label "ZNF628" ; IAO:0000142 PMID:15556296, PMID:31932482 ; - oboInOwl:hasDbXref UMLS:C1538207 ; oboInOwl:hasExactSynonym "ZNF628", "zec", "zfp628", "zinc finger protein 628" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89887 ; - skos:exactMatch HGNC_symbol:ZNF628 ; + skos:exactMatch UMLS:C1538207, + HGNC:28054, + HGNC_symbol:ZNF628 ; biolink:category biolink:Gene . OMIM:610672 a owl:Class ; @@ -282153,45 +293216,47 @@ OMIM:610672 a owl:Class ; PMID:9278521 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:617393 ; - oboInOwl:hasDbXref UMLS:C1427213 ; oboInOwl:hasExactSynonym "NACC1", "btb/poz domain-containing protein 14b", "nac1", "nucleus accumbens-associated protein 1, ben and btb/poz domains-containing" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112939 ; - skos:exactMatch HGNC_symbol:NACC1 ; + skos:exactMatch UMLS:C1427213, + HGNC:20967, + HGNC_symbol:NACC1 ; biolink:category biolink:Gene . OMIM:610673 a owl:Class ; rdfs:label "NAIF1" ; IAO:0000142 PMID:16378748 ; - oboInOwl:hasDbXref UMLS:C1428488 ; oboInOwl:hasExactSynonym "NAIF1", "chromosome 9 open reading frame 90", "nuclear apoptosis-inducing factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203245 ; - skos:exactMatch HGNC_symbol:NAIF1 ; + skos:exactMatch UMLS:C1428488, + HGNC:25446, + HGNC_symbol:NAIF1 ; biolink:category biolink:Gene . OMIM:610674 a owl:Class ; rdfs:label "SPEF1" ; IAO:0000142 PMID:16206169 ; - oboInOwl:hasDbXref UMLS:C1423795 ; oboInOwl:hasExactSynonym "SPEF1", "calponin-homology and microtubule-associated protein", "chromosome 20 open reading frame 28", "sperm flagellar protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25876 ; - skos:exactMatch HGNC_symbol:SPEF1 ; + skos:exactMatch UMLS:C1423795, + HGNC:15874, + HGNC_symbol:SPEF1 ; biolink:category biolink:Gene . OMIM:610675 a owl:Class ; rdfs:label "USE1" ; IAO:0000142 PMID:16354670 ; - oboInOwl:hasDbXref UMLS:C1857683 ; oboInOwl:hasExactSynonym "USE1", "hematopoietic stem/progenitor cell protein mds032", "p31", @@ -282199,19 +293264,22 @@ OMIM:610675 a owl:Class ; "unconventional snare 1n the er 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55850 ; - skos:exactMatch HGNC_symbol:USE1 ; + skos:exactMatch UMLS:C1857683, + HGNC:30882, + HGNC_symbol:USE1 ; biolink:category biolink:Gene . OMIM:610677 a owl:Class ; rdfs:label "LSM14A" ; IAO:0000142 PMID:16484376 ; - oboInOwl:hasDbXref UMLS:C1825913 ; oboInOwl:hasExactSynonym "LSM14A", "lsm14a mrna processing body assembly factor", "rna-associated protein 55" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26065 ; - skos:exactMatch HGNC_symbol:LSM14A ; + skos:exactMatch UMLS:C1825913, + HGNC:24489, + HGNC_symbol:LSM14A ; biolink:category biolink:Gene . OMIM:610679 a owl:Class ; @@ -282220,7 +293288,6 @@ OMIM:610679 a owl:Class ; PMID:11313143, PMID:16775625, PMID:9202329 ; - oboInOwl:hasDbXref UMLS:C1418496 ; oboInOwl:hasExactSynonym "CDK14", "cyclin-dependent kinase 14", "kiaa0834", @@ -282228,14 +293295,16 @@ OMIM:610679 a owl:Class ; "pftaire1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5218 ; - skos:exactMatch HGNC_symbol:CDK14 ; + skos:exactMatch UMLS:C1418496, + HGNC:8883, + HGNC_symbol:CDK14 ; biolink:category biolink:Gene . OMIM:610680 a owl:Class ; rdfs:label "holoprosencephaly, recurrent infections, and monocytosis" ; IAO:0000142 PMID:17103456 ; - oboInOwl:hasDbXref UMLS:C1853187 ; - oboInOwl:hasExactSynonym "holoprosencephaly, recurrent infections, and monocytosis" . + oboInOwl:hasExactSynonym "holoprosencephaly, recurrent infections, and monocytosis" ; + skos:exactMatch UMLS:C1853187 . OMIM:610683 a owl:Class ; rdfs:label "BBS12" ; @@ -282244,14 +293313,15 @@ OMIM:610683 a owl:Class ; PMID:20827784 ; RO:0002525 CHR:9606chr4q27 ; RO:0003303 OMIM:615989 ; - oboInOwl:hasDbXref UMLS:C1826414 ; oboInOwl:hasExactSynonym "BBS12", "bbs12 gene", "c4orf24", "flj35630" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166379 ; - skos:exactMatch HGNC_symbol:BBS12 ; + skos:exactMatch UMLS:C1826414, + HGNC:26648, + HGNC_symbol:BBS12 ; biolink:category biolink:Gene . OMIM:610684 a owl:Class ; @@ -282259,7 +293329,6 @@ OMIM:610684 a owl:Class ; IAO:0000142 PMID:12083771, PMID:17141153, PMID:22134922 ; - oboInOwl:hasDbXref UMLS:C1426001 ; oboInOwl:hasExactSynonym "CTDNEP1", "c-terminal domain nuclear envelope phosphatase 1", "ctd nuclear envelope phosphatase 1", @@ -282267,20 +293336,23 @@ OMIM:610684 a owl:Class ; "nem1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23399 ; - skos:exactMatch HGNC_symbol:CTDNEP1 ; + skos:exactMatch UMLS:C1426001, + HGNC:19085, + HGNC_symbol:CTDNEP1 ; biolink:category biolink:Gene . OMIM:610686 a owl:Class ; rdfs:label "UBXN2B" ; IAO:0000142 PMID:17141156 ; - oboInOwl:hasDbXref UMLS:C1853155 ; oboInOwl:hasExactSynonym "UBXN2B", "loc137886 gene", "p37", "ubx domain protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137886 ; - skos:exactMatch HGNC_symbol:UBXN2B ; + skos:exactMatch UMLS:C1853155, + HGNC:27035, + HGNC_symbol:UBXN2B ; biolink:category biolink:Gene . OMIM:610688 a owl:Class ; @@ -282290,21 +293362,22 @@ OMIM:610688 a owl:Class ; PMID:19508969, PMID:21633164, PMID:26092869 ; - oboInOwl:hasDbXref UMLS:C1853153 ; oboInOwl:hasExactSynonym "JBTS6", "joubert syndrome 6" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C1853153 ; biolink:category biolink:Disease . OMIM:610689 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15656990 ; - oboInOwl:hasDbXref UMLS:C1853152 ; oboInOwl:hasExactSynonym "dipas", "dipla1, antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:493913 ; - skos:exactMatch HGNC_symbol:PAPPA-AS1 ; + skos:exactMatch UMLS:C1853152, + HGNC:35152, + HGNC_symbol:PAPPA-AS1 ; biolink:category biolink:Gene . OMIM:610690 a owl:Class ; @@ -282318,41 +293391,44 @@ OMIM:610690 a owl:Class ; PMID:8824301 ; RO:0002525 CHR:9606chr2q32.2 ; RO:0003303 OMIM:250620 ; - oboInOwl:hasDbXref UMLS:C0342738, - UMLS:C1415543 ; oboInOwl:hasExactSynonym "3-hydroxyisobutyryl-coa hydrolase", "HIBCH", "beta-hydroxyisobutyryl-coenzyme a hydrolase", "hibyl-coa-h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26275 ; - skos:exactMatch HGNC_symbol:HIBCH ; + skos:exactMatch UMLS:C0342738, + UMLS:C1415543, + HGNC:4908, + HGNC_symbol:HIBCH ; biolink:category biolink:Gene . OMIM:610691 a owl:Class ; rdfs:label "PRUNE2" ; IAO:0000142 PMID:16288218, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1826727 ; oboInOwl:hasExactSynonym "PRUNE2", "bch motif-containing molecule at the c-terminal region 1", "kiaa0367", "prune, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158471 ; - skos:exactMatch HGNC_symbol:PRUNE2 ; + skos:exactMatch UMLS:C1826727, + HGNC:25209, + HGNC_symbol:PRUNE2 ; biolink:category biolink:Gene . OMIM:610692 a owl:Class ; rdfs:label "HSPB7" ; IAO:0000142 PMID:10593960 ; - oboInOwl:hasDbXref UMLS:C1415770 ; oboInOwl:hasExactSynonym "HSPB7", "cardiovascular heat-shock protein", "heat-shock 27-kd protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27129 ; - skos:exactMatch HGNC_symbol:HSPB7 ; + skos:exactMatch UMLS:C1415770, + HGNC:5249, + HGNC_symbol:HSPB7 ; biolink:category biolink:Gene . OMIM:610693 a owl:Class ; @@ -282362,21 +293438,21 @@ OMIM:610693 a owl:Class ; PMID:19656802 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:236680 ; - oboInOwl:hasDbXref UMLS:C1825557 ; oboInOwl:hasExactSynonym "HYLS1", "flj32915", "hyls1 centriolar and ciliogenesis-associated protein", "hyls1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219844 ; - skos:exactMatch HGNC_symbol:HYLS1 ; + skos:exactMatch UMLS:C1825557, + HGNC:26558, + HGNC_symbol:HYLS1 ; biolink:category biolink:Gene . OMIM:610694 a owl:Class ; rdfs:label "PGPEP1" ; IAO:0000142 PMID:12651114, PMID:15380924 ; - oboInOwl:hasDbXref UMLS:C1422070 ; oboInOwl:hasExactSynonym "5-oxoprolyl peptidase", "PGPEP1", "pgp", @@ -282384,7 +293460,9 @@ OMIM:610694 a owl:Class ; "pyrrolidone-carboxylate peptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54858 ; - skos:exactMatch HGNC_symbol:PGPEP1 ; + skos:exactMatch UMLS:C1422070, + HGNC:13568, + HGNC_symbol:PGPEP1 ; biolink:category biolink:Gene . OMIM:610695 a owl:Class ; @@ -282394,13 +293472,14 @@ OMIM:610695 a owl:Class ; PMID:12842460, PMID:14717697, PMID:15829720 ; - oboInOwl:hasDbXref UMLS:C1537388 ; oboInOwl:hasExactSynonym "HSPB6", "heat-shock 27-kd protein 6", "heat-shock protein, 20-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126393 ; - skos:exactMatch HGNC_symbol:HSPB6 ; + skos:exactMatch UMLS:C1537388, + HGNC:26511, + HGNC_symbol:HSPB6 ; biolink:category biolink:Gene . OMIM:610696 a owl:Class ; @@ -282409,7 +293488,6 @@ OMIM:610696 a owl:Class ; PMID:15789362, PMID:16288740, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1537443 ; oboInOwl:hasExactSynonym "kiaa0101", "overexpressed 1n anaplastic thyroid carcinoma 1", "p15(paf)", @@ -282417,7 +293495,9 @@ OMIM:610696 a owl:Class ; "pcna-associated factor, 15-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9768 ; - skos:exactMatch HGNC_symbol:PCLAF ; + skos:exactMatch UMLS:C1537443, + HGNC:28961, + HGNC_symbol:PCLAF ; biolink:category biolink:Gene . OMIM:610697 a owl:Class ; @@ -282427,7 +293507,6 @@ OMIM:610697 a owl:Class ; PMID:12671685, PMID:16413998, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1826563 ; oboInOwl:hasExactSynonym "PDZD2", "activated 1n prostate cancer", "kiaa0300", @@ -282436,7 +293515,9 @@ OMIM:610697 a owl:Class ; "plakophilin-related armadillo repeat protein-interacting pdz protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23037 ; - skos:exactMatch HGNC_symbol:PDZD2 ; + skos:exactMatch UMLS:C1826563, + HGNC:18486, + HGNC_symbol:PDZD2 ; biolink:category biolink:Gene . OMIM:610699 a owl:Class ; @@ -282445,49 +293526,53 @@ OMIM:610699 a owl:Class ; PMID:16973439, PMID:18467495, PMID:19414486 ; - oboInOwl:hasDbXref UMLS:C1823941 ; oboInOwl:hasExactSynonym "ZFAND2A", "an1-type zinc finger domain-containing protein 2a", "arsenite-inducible rna-associated protein", "zinc finger an1 domain-containing protein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90637 ; - skos:exactMatch HGNC_symbol:ZFAND2A ; + skos:exactMatch UMLS:C1823941, + HGNC:28073, + HGNC_symbol:ZFAND2A ; biolink:category biolink:Gene . OMIM:610700 a owl:Class ; rdfs:label "HTRA4" ; IAO:0000142 PMID:12408815 ; - oboInOwl:hasDbXref UMLS:C1537394 ; oboInOwl:hasExactSynonym "HTRA4", "htra serine peptidase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203100 ; - skos:exactMatch HGNC_symbol:HTRA4 ; + skos:exactMatch UMLS:C1537394, + HGNC:26909, + HGNC_symbol:HTRA4 ; biolink:category biolink:Gene . OMIM:610701 a owl:Class ; rdfs:label "HSPA12A" ; IAO:0000142 PMID:12552099, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1425959 ; oboInOwl:hasExactSynonym "HSPA12A", "heat-shock 70-kd protein 12a", "kiaa0417" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259217 ; - skos:exactMatch HGNC_symbol:HSPA12A ; + skos:exactMatch UMLS:C1425959, + HGNC:19022, + HGNC_symbol:HSPA12A ; biolink:category biolink:Gene . OMIM:610702 a owl:Class ; rdfs:label "HSPA12B" ; IAO:0000142 PMID:12552099 ; - oboInOwl:hasDbXref UMLS:C1424070 ; oboInOwl:hasExactSynonym "HSPA12B", "heat-shock 70-kd protein 12b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116835 ; - skos:exactMatch HGNC_symbol:HSPA12B ; + skos:exactMatch UMLS:C1424070, + HGNC:16193, + HGNC_symbol:HSPA12B ; biolink:category biolink:Gene . OMIM:610703 a owl:Class ; @@ -282496,7 +293581,6 @@ OMIM:610703 a owl:Class ; PMID:24717441, PMID:9039502, PMID:9931472 ; - oboInOwl:hasDbXref UMLS:C1424667 ; oboInOwl:hasExactSynonym "HSPH1", "heat-shock 105/110-kd protein 1", "heat-shock protein, 105-kd", @@ -282504,7 +293588,9 @@ OMIM:610703 a owl:Class ; "kiaa0201" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10808 ; - skos:exactMatch HGNC_symbol:HSPH1 ; + skos:exactMatch UMLS:C1424667, + HGNC:16969, + HGNC_symbol:HSPH1 ; biolink:category biolink:Gene . OMIM:610704 a owl:Class ; @@ -282514,20 +293600,20 @@ OMIM:610704 a owl:Class ; PMID:18281461, PMID:18339324, PMID:21746876 ; - oboInOwl:hasDbXref UMLS:C1538631 ; oboInOwl:hasExactSynonym "PHB2", "prohibitin 2", "repressor of estrogen receptor activity" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11331 ; - skos:exactMatch HGNC_symbol:PHB2 ; + skos:exactMatch UMLS:C1538631, + HGNC:30306, + HGNC_symbol:PHB2 ; biolink:category biolink:Gene . OMIM:610705 a owl:Class ; rdfs:label "CD300LB" ; IAO:0000142 PMID:16920917, PMID:20566714 ; - oboInOwl:hasDbXref UMLS:C1824679 ; oboInOwl:hasExactSynonym "CD300LB", "cd300 antigen-like family, member B", "cd300b", @@ -282537,69 +293623,75 @@ OMIM:610705 a owl:Class ; "triggering receptor expressed on myeloid cells 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124599 ; - skos:exactMatch HGNC_symbol:CD300LB ; + skos:exactMatch UMLS:C1824679, + HGNC:30811, + HGNC_symbol:CD300LB ; biolink:category biolink:Gene . OMIM:610709 a owl:Class ; rdfs:label "TSSK1" ; IAO:0000142 PMID:15044604 ; - oboInOwl:hasDbXref UMLS:C1540102 ; oboInOwl:hasExactSynonym "TSSK1", "serine/threonine protein kinase 22d", "stk22a, mouse, homolog of", "testis-specific serine/threonine kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83942 ; - skos:exactMatch HGNC_symbol:TSSK1B ; + skos:exactMatch UMLS:C1540102, + HGNC:14968, + HGNC_symbol:TSSK1B ; biolink:category biolink:Gene . OMIM:610710 a owl:Class ; rdfs:label "TSSK2" ; IAO:0000142 PMID:15044604 ; - oboInOwl:hasDbXref UMLS:C1540103 ; oboInOwl:hasExactSynonym "TSSK2", "serine/threonine protein kinase 22b", "testis-specific serine/threonine kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23617 ; - skos:exactMatch HGNC_symbol:TSSK2 ; + skos:exactMatch UMLS:C1540103, + HGNC:11401, + HGNC_symbol:TSSK2 ; biolink:category biolink:Gene . OMIM:610711 a owl:Class ; rdfs:label "TSSK4" ; IAO:0000142 PMID:15964553 ; - oboInOwl:hasDbXref UMLS:C1540105 ; oboInOwl:hasExactSynonym "TSSK4", "testis-specific serine/threonine kinase 4", "tssk5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283629 ; - skos:exactMatch HGNC_symbol:TSSK4 ; + skos:exactMatch UMLS:C1540105, + HGNC:19825, + HGNC_symbol:TSSK4 ; biolink:category biolink:Gene . OMIM:610712 a owl:Class ; rdfs:label "TSSK6" ; IAO:0000142 PMID:15044604, PMID:15870294 ; - oboInOwl:hasDbXref UMLS:C1540108 ; oboInOwl:hasExactSynonym "TSSK6", "small serine/threonine protein kinase", "testis-specific serine/threonine kinase 6", "tssk4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83983 ; - skos:exactMatch HGNC_symbol:TSSK6 ; + skos:exactMatch UMLS:C1540108, + HGNC:30410, + HGNC_symbol:TSSK6 ; biolink:category biolink:Gene . OMIM:610713 a owl:Class ; rdfs:label "brachydactyly-syndactyly syndrome" ; IAO:0000142 PMID:17236141, PMID:23995701 ; - oboInOwl:hasDbXref UMLS:C1853137, - UMLS:C4310807 ; oboInOwl:hasExactSynonym "BDSD", "brachydactyly-syndactyly syndrome", "brachydactyly-syndactyly-oligodactyly syndrome" ; + skos:exactMatch UMLS:C1853137, + UMLS:C4310807 ; biolink:category biolink:Disease . OMIM:610714 a owl:Class ; @@ -282607,13 +293699,14 @@ OMIM:610714 a owl:Class ; IAO:0000142 PMID:10441506, PMID:11432776, PMID:15282551 ; - oboInOwl:hasDbXref UMLS:C1538661 ; oboInOwl:hasExactSynonym "PKN3", "pkn-beta", "protein kinase n3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29941 ; - skos:exactMatch HGNC_symbol:PKN3 ; + skos:exactMatch UMLS:C1538661, + HGNC:17999, + HGNC_symbol:PKN3 ; biolink:category biolink:Gene . OMIM:610715 a owl:Class ; @@ -282622,13 +293715,14 @@ OMIM:610715 a owl:Class ; PMID:14648837, PMID:15332117, PMID:16437149 ; - oboInOwl:hasDbXref UMLS:C1424985 ; oboInOwl:hasExactSynonym "HEMGN", "erythroid differentiation-associated gene", "hemogen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55363 ; - skos:exactMatch HGNC_symbol:HEMGN ; + skos:exactMatch UMLS:C1424985, + HGNC:17509, + HGNC_symbol:HEMGN ; biolink:category biolink:Gene . OMIM:610716 a owl:Class ; @@ -282636,26 +293730,28 @@ OMIM:610716 a owl:Class ; IAO:0000142 PMID:12875843, PMID:17102137, PMID:17116885 ; - oboInOwl:hasDbXref UMLS:C1823281 ; oboInOwl:hasExactSynonym "TIPIN", "timeless-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54962 ; - skos:exactMatch HGNC_symbol:TIPIN ; + skos:exactMatch UMLS:C1823281, + HGNC:30750, + HGNC_symbol:TIPIN ; biolink:category biolink:Gene . OMIM:610718 a owl:Class ; rdfs:label "MIR195" ; IAO:0000142 PMID:17108080, PMID:18632683 ; - oboInOwl:hasDbXref UMLS:C1853135 ; oboInOwl:hasExactSynonym "MIR195", "micro RNA 195", "mirn195", "mirna195" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406971 ; - skos:exactMatch HGNC_symbol:MIR195 ; + skos:exactMatch UMLS:C1853135, + HGNC:31566, + HGNC_symbol:MIR195 ; biolink:category biolink:Gene . OMIM:610719 a owl:Class ; @@ -282664,42 +293760,45 @@ OMIM:610719 a owl:Class ; PMID:17108080, PMID:23222520, PMID:31068698 ; - oboInOwl:hasDbXref UMLS:C1853134 ; oboInOwl:hasExactSynonym "MIR199A1", "micro RNA 199a1", "mirn199a1", "mirna199a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406976 ; - skos:exactMatch HGNC_symbol:MIR199A1 ; + skos:exactMatch UMLS:C1853134, + HGNC:31571, + HGNC_symbol:MIR199A1 ; biolink:category biolink:Gene . OMIM:610720 a owl:Class ; rdfs:label "MIR199A2" ; IAO:0000142 PMID:15978578, PMID:20534588 ; - oboInOwl:hasDbXref UMLS:C1853133 ; oboInOwl:hasExactSynonym "MIR199A2", "micro RNA 199a2", "mirn199a2", "mirna199a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406977 ; - skos:exactMatch HGNC_symbol:MIR199A2 ; + skos:exactMatch UMLS:C1853133, + HGNC:31572, + HGNC_symbol:MIR199A2 ; biolink:category biolink:Gene . OMIM:610721 a owl:Class ; rdfs:label "MIR214" ; IAO:0000142 PMID:17108080, PMID:20534588 ; - oboInOwl:hasDbXref UMLS:C1853132 ; oboInOwl:hasExactSynonym "MIR214", "micro RNA 214", "mirn214", "mirna214" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406996 ; - skos:exactMatch HGNC_symbol:MIR214 ; + skos:exactMatch UMLS:C1853132, + HGNC:31591, + HGNC_symbol:MIR214 ; biolink:category biolink:Gene . OMIM:610722 a owl:Class ; @@ -282710,104 +293809,112 @@ OMIM:610723 a owl:Class ; rdfs:label "MIR23B" ; IAO:0000142 PMID:17108080, PMID:19219026 ; - oboInOwl:hasDbXref UMLS:C1853131 ; oboInOwl:hasExactSynonym "MIR23B", "micro RNA 23b", "mirn23b", "mirna23b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407011 ; - skos:exactMatch HGNC_symbol:MIR23B ; + skos:exactMatch UMLS:C1853131, + HGNC:31606, + HGNC_symbol:MIR23B ; biolink:category biolink:Gene . OMIM:610724 a owl:Class ; rdfs:label "MIR24-2" ; IAO:0000142 PMID:15978578 ; - oboInOwl:hasDbXref UMLS:C1853130 ; oboInOwl:hasExactSynonym "MIR24-2", "micro RNA 24-2", "mirn24-2", "mirna24-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407013 ; - skos:exactMatch HGNC_symbol:MIR24-2 ; + skos:exactMatch UMLS:C1853130, + HGNC:31608, + HGNC_symbol:MIR24-2 ; biolink:category biolink:Gene . OMIM:610726 a owl:Class ; rdfs:label "TRUB1" ; IAO:0000142 PMID:12736709 ; - oboInOwl:hasDbXref UMLS:C1423945 ; oboInOwl:hasExactSynonym "TRUB1", "pus4", "trub pseudouridine synthase family member 1", "trub pseudouridine synthase, e. coli, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142940 ; - skos:exactMatch HGNC_symbol:TRUB1 ; + skos:exactMatch UMLS:C1423945, + HGNC:16060, + HGNC_symbol:TRUB1 ; biolink:category biolink:Gene . OMIM:610727 a owl:Class ; rdfs:label "TRUB2" ; IAO:0000142 PMID:12736709, PMID:27974379 ; - oboInOwl:hasDbXref UMLS:C1424793 ; oboInOwl:hasExactSynonym "TRUB2", "trub pseudouridine synthase family member 2", "trub pseudouridine synthase, e. coli, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26995 ; - skos:exactMatch HGNC_symbol:TRUB2 ; + skos:exactMatch UMLS:C1424793, + HGNC:17170, + HGNC_symbol:TRUB2 ; biolink:category biolink:Gene . OMIM:610728 a owl:Class ; rdfs:label "SMPDL3A" ; IAO:0000142 PMID:12442002, PMID:25288789 ; - oboInOwl:hasDbXref UMLS:C1424952 ; oboInOwl:hasExactSynonym "SMPDL3A", "acid sphingomyelinase-like phosphodiesterase 3a", "sphingomyelin phosphodiesterase, acid-like, 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10924 ; - skos:exactMatch HGNC_symbol:SMPDL3A ; + skos:exactMatch UMLS:C1424952, + HGNC:17389, + HGNC_symbol:SMPDL3A ; biolink:category biolink:Gene . OMIM:610729 a owl:Class ; rdfs:label "WDR92" ; IAO:0000142 PMID:16487927 ; - oboInOwl:hasDbXref UMLS:C1853122 ; oboInOwl:hasExactSynonym "WDR92", "loc116143", "monad protein", "wd repeat-containing protein 92" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116143 ; - skos:exactMatch HGNC_symbol:DNAAF10 ; + skos:exactMatch UMLS:C1853122, + HGNC:25176, + HGNC_symbol:DNAAF10 ; biolink:category biolink:Gene . OMIM:610730 a owl:Class ; rdfs:label "CCT6B" ; IAO:0000142 PMID:8812458, PMID:9013858 ; - oboInOwl:hasDbXref UMLS:C1413199 ; oboInOwl:hasExactSynonym "CCT6B", "cct-zeta 2", "chaperonin-containing t-complex polypeptide 1, subunit 6b", "chaperonin-containing tcp1, subunit 6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10693 ; - skos:exactMatch HGNC_symbol:CCT6B ; + skos:exactMatch UMLS:C1413199, + HGNC:1621, + HGNC_symbol:CCT6B ; biolink:category biolink:Gene . OMIM:610731 a owl:Class ; rdfs:label "ANKRD7" ; IAO:0000142 PMID:8812458 ; - oboInOwl:hasDbXref UMLS:C1425626 ; oboInOwl:hasExactSynonym "ANKRD7", "ankyrin repeat domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56311 ; - skos:exactMatch HGNC_symbol:ANKRD7 ; + skos:exactMatch UMLS:C1425626, + HGNC:18588, + HGNC_symbol:ANKRD7 ; biolink:category biolink:Gene . OMIM:610732 a owl:Class ; @@ -282816,14 +293923,15 @@ OMIM:610732 a owl:Class ; PMID:31978331 ; RO:0002525 CHR:9606chr11q23.2 ; RO:0003303 OMIM:618801 ; - oboInOwl:hasDbXref UMLS:C1428204, - UMLS:C5394104 ; oboInOwl:hasExactSynonym "TTC12", "tetratricopeptide repeat domain-containing protein 12", "tparm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54970 ; - skos:exactMatch HGNC_symbol:TTC12 ; + skos:exactMatch UMLS:C1428204, + UMLS:C5394104, + HGNC:23700, + HGNC_symbol:TTC12 ; biolink:category biolink:Gene . OMIM:610734 a owl:Class ; @@ -282835,39 +293943,42 @@ OMIM:610734 a owl:Class ; PMID:15136035, PMID:15677738, PMID:16021567 ; - oboInOwl:hasDbXref UMLS:C1412405 ; oboInOwl:hasExactSynonym "ANKRD2", "ankyrin repeat domain-containing protein 2", "ankyrin repeat protein with pest motif and proline-rich region" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26287 ; - skos:exactMatch HGNC_symbol:ANKRD2 ; + skos:exactMatch UMLS:C1412405, + HGNC:495, + HGNC_symbol:ANKRD2 ; biolink:category biolink:Gene . OMIM:610735 a owl:Class ; rdfs:label "MYOZ3" ; IAO:0000142 PMID:11842093 ; - oboInOwl:hasDbXref UMLS:C1425604 ; oboInOwl:hasExactSynonym "MYOZ3", "calsarcin 3", "fatz-related protein 3", "myozenin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91977 ; - skos:exactMatch HGNC_symbol:MYOZ3 ; + skos:exactMatch UMLS:C1425604, + HGNC:18565, + HGNC_symbol:MYOZ3 ; biolink:category biolink:Gene . OMIM:610736 a owl:Class ; rdfs:label "ANKRD23" ; IAO:0000142 PMID:12456686, PMID:14583192 ; - oboInOwl:hasDbXref UMLS:C1428378 ; oboInOwl:hasExactSynonym "ANKRD23", "ankyrin repeat domain-containing protein 23", "diabetes-related ankyrin repeat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200539 ; - skos:exactMatch HGNC_symbol:ANKRD23 ; + skos:exactMatch UMLS:C1428378, + HGNC:24470, + HGNC_symbol:ANKRD23 ; biolink:category biolink:Gene . OMIM:610737 a owl:Class ; @@ -282875,12 +293986,13 @@ OMIM:610737 a owl:Class ; IAO:0000142 PMID:12975377, PMID:16039990, PMID:21441910 ; - oboInOwl:hasDbXref UMLS:C1537513 ; oboInOwl:hasExactSynonym "KSR2", "kinase suppressor of ras 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283455 ; - skos:exactMatch HGNC_symbol:KSR2 ; + skos:exactMatch UMLS:C1537513, + HGNC:18610, + HGNC_symbol:KSR2 ; biolink:category biolink:Gene . OMIM:610739 a owl:Class ; @@ -282895,14 +294007,15 @@ OMIM:610739 a owl:Class ; PMID:29507423 ; RO:0002525 CHR:9606chr16p12.1 ; RO:0003303 OMIM:618074 ; - oboInOwl:hasDbXref UMLS:C1540035 ; oboInOwl:hasExactSynonym "TNRC6A", "glycine/tryptophan repeat protein, 182-kd", "kiaa1460", "trinucleotide repeat-containing gene 6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27327 ; - skos:exactMatch HGNC_symbol:TNRC6A ; + skos:exactMatch UMLS:C1540035, + HGNC:11969, + HGNC_symbol:TNRC6A ; biolink:category biolink:Gene . OMIM:610740 a owl:Class ; @@ -282912,48 +294025,51 @@ OMIM:610740 a owl:Class ; PMID:16880270 ; RO:0002525 CHR:9606chr22q13.1 ; RO:0003303 OMIM:619243 ; - oboInOwl:hasDbXref UMLS:C1540036 ; oboInOwl:hasExactSynonym "TNRC6B", "kiaa1093", "trinucleotide repeat-containing gene 6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23112 ; - skos:exactMatch HGNC_symbol:TNRC6B ; + skos:exactMatch UMLS:C1540036, + HGNC:29190, + HGNC_symbol:TNRC6B ; biolink:category biolink:Gene . OMIM:610741 a owl:Class ; rdfs:label "TNRC6C" ; IAO:0000142 PMID:10997877, PMID:16880270 ; - oboInOwl:hasDbXref UMLS:C1540037 ; oboInOwl:hasExactSynonym "TNRC6C", "kiaa1582", "trinucleotide repeat-containing gene 6c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57690 ; - skos:exactMatch HGNC_symbol:TNRC6C ; + skos:exactMatch UMLS:C1540037, + HGNC:29318, + HGNC_symbol:TNRC6C ; biolink:category biolink:Gene . OMIM:610742 a owl:Class ; rdfs:label "MOV10" ; IAO:0000142 PMID:10997877, PMID:16289642 ; - oboInOwl:hasDbXref UMLS:C1417230 ; oboInOwl:hasExactSynonym "MOV10", "kiaa1631", "moloney leukemia virus 10, mouse, homolog of", "mov10 risc complex RNA helicase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4343 ; - skos:exactMatch HGNC_symbol:MOV10 ; + skos:exactMatch UMLS:C1417230, + HGNC:7200, + HGNC_symbol:MOV10 ; biolink:category biolink:Gene . OMIM:610744 a owl:Class ; rdfs:label "iris pattern" ; IAO:0000142 PMID:12855068, PMID:21835309 ; - oboInOwl:hasDbXref UMLS:C1853115 ; oboInOwl:hasExactSynonym "iris pattern" ; + skos:exactMatch UMLS:C1853115 ; biolink:category biolink:Disease . OMIM:610745 a owl:Class ; @@ -282973,12 +294089,13 @@ OMIM:610745 a owl:Class ; PMID:9203140 ; RO:0002525 CHR:9606chr15q24.1 ; RO:0003303 OMIM:601186 ; - oboInOwl:hasDbXref UMLS:C1539887 ; oboInOwl:hasExactSynonym "STRA6", "stimulated by retinoic acid 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64220 ; - skos:exactMatch HGNC_symbol:STRA6 ; + skos:exactMatch UMLS:C1539887, + HGNC:30650, + HGNC_symbol:STRA6 ; biolink:category biolink:Gene . OMIM:610746 a owl:Class ; @@ -282991,7 +294108,6 @@ OMIM:610746 a owl:Class ; PMID:23890587 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:610768 ; - oboInOwl:hasDbXref UMLS:C1428074 ; oboInOwl:hasExactSynonym "DOLK", "dolichol kinase", "dolichol kinase 1", @@ -283000,21 +294116,24 @@ OMIM:610746 a owl:Class ; "transmembrane protein 15, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22845 ; - skos:exactMatch HGNC_symbol:DOLK ; + skos:exactMatch UMLS:C1428074, + HGNC:23406, + HGNC_symbol:DOLK ; biolink:category biolink:Gene . OMIM:610747 a owl:Class ; rdfs:label "SAMD4A" ; IAO:0000142 PMID:10470851, PMID:16221671 ; - oboInOwl:hasDbXref UMLS:C1826968 ; oboInOwl:hasExactSynonym "SAMD4A", "kiaa1053", "smaug, drosophila, homolog of, 1", "sterile alpha motif domain-containing protein 4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23034 ; - skos:exactMatch HGNC_symbol:SAMD4A ; + skos:exactMatch UMLS:C1826968, + HGNC:23023, + HGNC_symbol:SAMD4A ; biolink:category biolink:Gene . OMIM:610748 a owl:Class ; @@ -283023,64 +294142,69 @@ OMIM:610748 a owl:Class ; PMID:11597335, PMID:16901786, PMID:29880484 ; - oboInOwl:hasDbXref UMLS:C1421403 ; oboInOwl:hasExactSynonym "USP28", "kiaa1515", "ubiquitin-specific protease 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57646 ; - skos:exactMatch HGNC_symbol:USP28 ; + skos:exactMatch UMLS:C1421403, + HGNC:12625, + HGNC_symbol:USP28 ; biolink:category biolink:Gene . OMIM:610749 a owl:Class ; rdfs:label "KLHL31" ; IAO:0000142 PMID:15302408 ; - oboInOwl:hasDbXref UMLS:C1825732 ; oboInOwl:hasExactSynonym "KLHL31", "kelch-like 31", "klhl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401265 ; - skos:exactMatch HGNC_symbol:KLHL31 ; + skos:exactMatch UMLS:C1825732, + HGNC:21353, + HGNC_symbol:KLHL31 ; biolink:category biolink:Gene . OMIM:610750 a owl:Class ; rdfs:label "ZCRB1" ; IAO:0000142 PMID:15146077, PMID:16959469 ; - oboInOwl:hasDbXref UMLS:C1823938 ; oboInOwl:hasExactSynonym "ZCRB1", "madp1", "u11/u12 snrnp, 31-kd subunit", "zinc finger cchc domain- and rna-binding motif-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85437 ; - skos:exactMatch HGNC_symbol:ZCRB1 ; + skos:exactMatch UMLS:C1823938, + HGNC:29620, + HGNC_symbol:ZCRB1 ; biolink:category biolink:Gene . OMIM:610751 a owl:Class ; rdfs:label "PRTFDC1" ; IAO:0000142 PMID:16928426, PMID:17599052 ; - oboInOwl:hasDbXref UMLS:C1428041 ; oboInOwl:hasExactSynonym "PRTFDC1", "phosphoribosyl transferase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56952 ; - skos:exactMatch HGNC_symbol:PRTFDC1 ; + skos:exactMatch UMLS:C1428041, + HGNC:23333, + HGNC_symbol:PRTFDC1 ; biolink:category biolink:Gene . OMIM:610752 a owl:Class ; rdfs:label "UST" ; IAO:0000142 PMID:10187838, PMID:16192264 ; - oboInOwl:hasDbXref UMLS:C1424835 ; oboInOwl:hasExactSynonym "UST", "uronosyl 2-o-sulfotransferase", "uronyl 2-sulfotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10090 ; - skos:exactMatch HGNC_symbol:UST ; + skos:exactMatch UMLS:C1424835, + HGNC:17223, + HGNC_symbol:UST ; biolink:category biolink:Gene . OMIM:610754 a owl:Class ; @@ -283097,7 +294221,6 @@ OMIM:610754 a owl:Class ; PMID:32612238, PMID:33318687, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1823656 ; oboInOwl:hasExactSynonym "WAPL", "friend of ebna2", "kiaa0261", @@ -283105,39 +294228,43 @@ OMIM:610754 a owl:Class ; "wings apart-like protein, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23063 ; - skos:exactMatch HGNC_symbol:WAPL ; + skos:exactMatch UMLS:C1823656, + HGNC:23293, + HGNC_symbol:WAPL ; biolink:category biolink:Gene . OMIM:610756 a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome 2" ; IAO:0000142 PMID:11443545 ; - oboInOwl:hasDbXref UMLS:C1853102 ; oboInOwl:hasExactSynonym "COFS2", "cerebrooculofacioskeletal syndrome 2" ; rdfs:subClassOf OMIMPS:214150 ; + skos:exactMatch UMLS:C1853102 ; biolink:category biolink:Disease . OMIM:610757 a owl:Class ; rdfs:label "CCL4L2" ; IAO:0000142 PMID:15028295 ; - oboInOwl:hasDbXref UMLS:C1824663 ; oboInOwl:hasExactSynonym "CCL4L2", "chemokine, cc motif, ligand 4-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9560 ; - skos:exactMatch HGNC_symbol:CCL4L2 ; + skos:exactMatch UMLS:C1824663, + HGNC:24066, + HGNC_symbol:CCL4L2 ; biolink:category biolink:Gene . OMIM:610763 a owl:Class ; rdfs:label "NANP" ; IAO:0000142 PMID:16237198 ; - oboInOwl:hasDbXref UMLS:C1826346 ; oboInOwl:hasExactSynonym "NANP", "n-acetylneuraminic acid phosphatase", "neu5ac-9-phosphate phosphatase haloacid dehalogenase-like hydrolase domain-containing protein-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140838 ; - skos:exactMatch HGNC_symbol:NANP ; + skos:exactMatch UMLS:C1826346, + HGNC:16140, + HGNC_symbol:NANP ; biolink:category biolink:Gene . OMIM:610764 a owl:Class ; @@ -283146,7 +294273,6 @@ OMIM:610764 a owl:Class ; PMID:17855024, PMID:9734811, PMID:9915832 ; - oboInOwl:hasDbXref UMLS:C1424579 ; oboInOwl:hasExactSynonym "BZRAP1", "benzodiazapine receptor (peripheral)-associated protein 1", "kiaa0612", @@ -283154,7 +294280,9 @@ OMIM:610764 a owl:Class ; "rims-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9256 ; - skos:exactMatch HGNC_symbol:TSPOAP1 ; + skos:exactMatch UMLS:C1424579, + HGNC:16831, + HGNC_symbol:TSPOAP1 ; biolink:category biolink:Gene . OMIM:610765 a owl:Class ; @@ -283172,14 +294300,15 @@ OMIM:610766 a owl:Class ; PMID:8032679 ; RO:0002525 CHR:9606chr15q21.3 ; RO:0003303 OMIM:618948 ; - oboInOwl:hasDbXref UMLS:C1826263, - UMLS:C5394551 ; oboInOwl:hasExactSynonym "MNS1", "flj11222", "meiosis-specific nuclear structural protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55329 ; - skos:exactMatch HGNC_symbol:MNS1 ; + skos:exactMatch UMLS:C1826263, + UMLS:C5394551, + HGNC:29636, + HGNC_symbol:MNS1 ; biolink:category biolink:Gene . OMIM:610767 a owl:Class ; @@ -283204,21 +294333,21 @@ OMIM:610767 a owl:Class ; PMID:32132711 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:611081 ; - oboInOwl:hasDbXref UMLS:C1825502, - UMLS:C4310865 ; oboInOwl:hasExactSynonym "ATG16L1", "apg16-like", "autophagy 16-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55054 ; - skos:exactMatch HGNC_symbol:ATG16L1 ; + skos:exactMatch UMLS:C1825502, + UMLS:C4310865, + HGNC:21498, + HGNC_symbol:ATG16L1 ; biolink:category biolink:Gene . OMIM:610769 a owl:Class ; rdfs:label "NOC3L" ; IAO:0000142 PMID:15564382, PMID:9918832 ; - oboInOwl:hasDbXref UMLS:C1835848 ; oboInOwl:hasExactSynonym "NOC3L", "chromosome 10 open reading frame 117", "factor for adipocyte differentiation 24", @@ -283226,20 +294355,23 @@ OMIM:610769 a owl:Class ; "nucleolar complex-associated protein 3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64318 ; - skos:exactMatch HGNC_symbol:NOC3L ; + skos:exactMatch UMLS:C1835848, + HGNC:24034, + HGNC_symbol:NOC3L ; biolink:category biolink:Gene . OMIM:610770 a owl:Class ; rdfs:label "NOC2L" ; IAO:0000142 PMID:16322561 ; - oboInOwl:hasDbXref UMLS:C1826446 ; oboInOwl:hasExactSynonym "NOC2L", "noc2-like nucleolar-associated transcriptional repressor", "novel inhat repressor", "nucleolar complex-associated protein 2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26155 ; - skos:exactMatch HGNC_symbol:NOC2L ; + skos:exactMatch UMLS:C1826446, + HGNC:24517, + HGNC_symbol:NOC2L ; biolink:category biolink:Gene . OMIM:610771 a owl:Class ; @@ -283247,25 +294379,27 @@ OMIM:610771 a owl:Class ; IAO:0000142 PMID:12592387, PMID:17289567, PMID:24923445 ; - oboInOwl:hasDbXref UMLS:C1424568 ; oboInOwl:hasExactSynonym "CHD5", "chromodomain helicase dna-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26038 ; - skos:exactMatch HGNC_symbol:CHD5 ; + skos:exactMatch UMLS:C1424568, + HGNC:16816, + HGNC_symbol:CHD5 ; biolink:category biolink:Gene . OMIM:610772 a owl:Class ; rdfs:label "NKX6-3" ; IAO:0000142 PMID:16326147 ; - oboInOwl:hasDbXref UMLS:C1826430 ; oboInOwl:hasExactSynonym "NKX6-3", "nk6 homeobox 3", "nk6, drosophila, homolog of, 3", "nkx6.3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157848 ; - skos:exactMatch HGNC_symbol:NKX6-3 ; + skos:exactMatch UMLS:C1826430, + HGNC:26328, + HGNC_symbol:NKX6-3 ; biolink:category biolink:Gene . OMIM:610774 a owl:Class ; @@ -283274,8 +294408,6 @@ OMIM:610774 a owl:Class ; PMID:29394991 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:617929 ; - oboInOwl:hasDbXref UMLS:C1420844, - UMLS:C4693663 ; oboInOwl:hasExactSynonym "CNPY3", "canopy 3, zebrafish, homolog of", "canopy fgf signaling regulator 3", @@ -283285,57 +294417,64 @@ OMIM:610774 a owl:Class ; "trinucleotide repeat-containing gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10695 ; - skos:exactMatch HGNC_symbol:CNPY3 ; + skos:exactMatch UMLS:C1420844, + UMLS:C4693663, + HGNC:11968, + HGNC_symbol:CNPY3 ; biolink:category biolink:Gene . OMIM:610775 a owl:Class ; rdfs:label "TIGAR" ; IAO:0000142 PMID:16140933, PMID:16839880 ; - oboInOwl:hasDbXref UMLS:C1412882 ; oboInOwl:hasExactSynonym "TIGAR", "chromosome 12 open reading frame 5", "tp53-induced glycolysis and apoptosis regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57103 ; - skos:exactMatch HGNC_symbol:TIGAR ; + skos:exactMatch UMLS:C1412882, + HGNC:1185, + HGNC_symbol:TIGAR ; biolink:category biolink:Gene . OMIM:610776 a owl:Class ; rdfs:label "DRAM1" ; IAO:0000142 PMID:16839881 ; - oboInOwl:hasDbXref UMLS:C1835843 ; oboInOwl:hasExactSynonym "DRAM1", "damage-regulated autophagy modulator 1", "dram" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55332 ; - skos:exactMatch HGNC_symbol:DRAM1 ; + skos:exactMatch UMLS:C1835843, + HGNC:25645, + HGNC_symbol:DRAM1 ; biolink:category biolink:Gene . OMIM:610777 a owl:Class ; rdfs:label "NGDN" ; IAO:0000142 PMID:16705177 ; - oboInOwl:hasDbXref UMLS:C1826400 ; oboInOwl:hasExactSynonym "NGDN", "neuroguidin", "ngd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25983 ; - skos:exactMatch HGNC_symbol:NGDN ; + skos:exactMatch UMLS:C1826400, + HGNC:20271, + HGNC_symbol:NGDN ; biolink:category biolink:Gene . OMIM:610778 a owl:Class ; rdfs:label "GNB1L" ; IAO:0000142 PMID:11072084, PMID:11350118 ; - oboInOwl:hasDbXref UMLS:C1415150 ; oboInOwl:hasExactSynonym "GNB1L", "guanine nucleotide-binding protein, beta-1-like", "wd repeat-containing protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54584 ; - skos:exactMatch HGNC_symbol:GNB1L ; + skos:exactMatch UMLS:C1415150, + HGNC:4397, + HGNC_symbol:GNB1L ; biolink:category biolink:Gene . OMIM:610779 a owl:Class ; @@ -283343,39 +294482,42 @@ OMIM:610779 a owl:Class ; IAO:0000142 PMID:10486206, PMID:12970194, PMID:18573874 ; - oboInOwl:hasDbXref UMLS:C1417873 ; oboInOwl:hasExactSynonym "NUBP2", "cytosolic fe-s cluster deficient 1, s. cerevisiae, homolog of", "nucleotide-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10101 ; - skos:exactMatch HGNC_symbol:NUBP2 ; + skos:exactMatch UMLS:C1417873, + HGNC:8042, + HGNC_symbol:NUBP2 ; biolink:category biolink:Gene . OMIM:610780 a owl:Class ; rdfs:label "LSG1" ; IAO:0000142 PMID:11256614, PMID:16209721 ; - oboInOwl:hasDbXref UMLS:C1825910 ; oboInOwl:hasExactSynonym "LSG1", "large 60s subunit nuclear export gtpase 1", "large subunit gtpase 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55341 ; - skos:exactMatch HGNC_symbol:LSG1 ; + skos:exactMatch UMLS:C1825910, + HGNC:25652, + HGNC_symbol:LSG1 ; biolink:category biolink:Gene . OMIM:610781 a owl:Class ; rdfs:label "GMPR2" ; IAO:0000142 PMID:12009299, PMID:12669231 ; - oboInOwl:hasDbXref UMLS:C1415136 ; oboInOwl:hasExactSynonym "GMPR2", "gmp reductase 2", "guanosine monophosphate reductase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51292 ; - skos:exactMatch HGNC_symbol:GMPR2 ; + skos:exactMatch UMLS:C1415136, + HGNC:4377, + HGNC_symbol:GMPR2 ; biolink:category biolink:Gene . OMIM:610782 a owl:Class ; @@ -283391,14 +294533,15 @@ OMIM:610782 a owl:Class ; PMID:22772450, PMID:24054330, PMID:32343678 ; - oboInOwl:hasDbXref UMLS:C1835841 ; oboInOwl:hasExactSynonym "MIR29A", "micro RNA 29a", "mirn29a", "mirna29a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407021 ; - skos:exactMatch HGNC_symbol:MIR29A ; + skos:exactMatch UMLS:C1835841, + HGNC:31616, + HGNC_symbol:MIR29A ; biolink:category biolink:Gene . OMIM:610783 a owl:Class ; @@ -283418,14 +294561,15 @@ OMIM:610783 a owl:Class ; PMID:22772450, PMID:24054330, PMID:30638953 ; - oboInOwl:hasDbXref UMLS:C1835840 ; oboInOwl:hasExactSynonym "MIR29B1", "micro RNA 29b1", "mirn29b1", "mirna29b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407024 ; - skos:exactMatch HGNC_symbol:MIR29B1 ; + skos:exactMatch UMLS:C1835840, + HGNC:31619, + HGNC_symbol:MIR29B1 ; biolink:category biolink:Gene . OMIM:610784 a owl:Class ; @@ -283436,58 +294580,61 @@ OMIM:610784 a owl:Class ; PMID:19584290, PMID:20570858, PMID:24054330 ; - oboInOwl:hasDbXref UMLS:C1835839 ; oboInOwl:hasExactSynonym "MIR29C", "micro RNA 29c", "mirn29c", "mirna29c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407026 ; - skos:exactMatch HGNC_symbol:MIR29C ; + skos:exactMatch UMLS:C1835839, + HGNC:31621, + HGNC_symbol:MIR29C ; biolink:category biolink:Gene . OMIM:610785 a owl:Class ; rdfs:label "PDIK1L" ; IAO:0000142 PMID:14631099 ; - oboInOwl:hasDbXref UMLS:C1538612 ; oboInOwl:hasExactSynonym "PDIK1L", "pdlim1-interacting kinase 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149420 ; - skos:exactMatch HGNC_symbol:PDIK1L ; + skos:exactMatch UMLS:C1538612, + HGNC:18981, + HGNC_symbol:PDIK1L ; biolink:category biolink:Gene . OMIM:610786 a owl:Class ; rdfs:label "SRCIN1" ; IAO:0000142 PMID:10625663, PMID:11214970 ; - oboInOwl:hasDbXref UMLS:C1835838 ; oboInOwl:hasExactSynonym "SRCIN1", "kiaa1684", "snap25-interacting protein", "src kinase signaling inhibitor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80725 ; - skos:exactMatch HGNC_symbol:SRCIN1 ; + skos:exactMatch UMLS:C1835838, + HGNC:29506, + HGNC_symbol:SRCIN1 ; biolink:category biolink:Gene . OMIM:610787 a owl:Class ; rdfs:label "PRAC2" ; IAO:0000142 PMID:12746837 ; - oboInOwl:hasDbXref UMLS:C1835837 ; oboInOwl:hasExactSynonym "PRAC2", "homeobox B cluster antisense RNA 5", "prac2 small nuclear protein", "prostate, rectum, and colon gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:360205 ; - skos:exactMatch HGNC_symbol:PRAC2 ; + skos:exactMatch UMLS:C1835837, + HGNC:30143, + HGNC_symbol:PRAC2 ; biolink:category biolink:Gene . OMIM:610788 a owl:Class ; rdfs:label "SLC35B2" ; IAO:0000142 PMID:12716889 ; - oboInOwl:hasDbXref UMLS:C1835836 ; oboInOwl:hasExactSynonym "3-prime-phosphoadenosine 5-prime-phosphosulfate transporter 1", "SLC35B2", "paps transporter 1", @@ -283495,80 +294642,88 @@ OMIM:610788 a owl:Class ; "solute carrier family 35 (3-prime-phosphoadenosine 5-prime-phosphosulfate transporter), member b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347734 ; - skos:exactMatch HGNC_symbol:SLC35B2 ; + skos:exactMatch UMLS:C1835836, + HGNC:16872, + HGNC_symbol:SLC35B2 ; biolink:category biolink:Gene . OMIM:610789 a owl:Class ; rdfs:label "PDRG1" ; IAO:0000142 PMID:14562055 ; - oboInOwl:hasDbXref UMLS:C1538614 ; oboInOwl:hasExactSynonym "PDRG1", "chromosome 20 open reading frame 126", "p53 and DNA damage-regulated 1", "pdrg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81572 ; - skos:exactMatch HGNC_symbol:PDRG1 ; + skos:exactMatch UMLS:C1538614, + HGNC:16119, + HGNC_symbol:PDRG1 ; biolink:category biolink:Gene . OMIM:610790 a owl:Class ; rdfs:label "SLC35B1" ; IAO:0000142 PMID:9010752 ; - oboInOwl:hasDbXref UMLS:C1427131 ; oboInOwl:hasExactSynonym "SLC35B1", "solute carrier family 35, member b1", "udp-galactose transporter-related 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10237 ; - skos:exactMatch HGNC_symbol:SLC35B1 ; + skos:exactMatch UMLS:C1427131, + HGNC:20798, + HGNC_symbol:SLC35B1 ; biolink:category biolink:Gene . OMIM:610791 a owl:Class ; rdfs:label "SLC43A2" ; IAO:0000142 PMID:15659399, PMID:32879489 ; - oboInOwl:hasDbXref UMLS:C1539786 ; oboInOwl:hasExactSynonym "SLC43A2", "l-type amino acid transporter 4", "solute carrier family 43 (l-type amino acid transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124935 ; - skos:exactMatch HGNC_symbol:SLC43A2 ; + skos:exactMatch UMLS:C1539786, + HGNC:23087, + HGNC_symbol:SLC43A2 ; biolink:category biolink:Gene . OMIM:610792 a owl:Class ; rdfs:label "SLC22A25" ; IAO:0000142 PMID:15054140 ; - oboInOwl:hasDbXref UMLS:C1835834 ; oboInOwl:hasExactSynonym "SLC22A25", "organic anion transporter ust6", "solute carrier family 22, member 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387601 ; - skos:exactMatch HGNC_symbol:SLC22A25 ; + skos:exactMatch UMLS:C1835834, + HGNC:32935, + HGNC_symbol:SLC22A25 ; biolink:category biolink:Gene . OMIM:610793 a owl:Class ; rdfs:label "SLC25A30" ; IAO:0000142 PMID:15809292 ; - oboInOwl:hasDbXref UMLS:C1539784 ; oboInOwl:hasExactSynonym "SLC25A30", "kidney mitochondrial carrier protein 1", "solute carrier family 25 (mitochondrial carrier, kidney), member 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253512 ; - skos:exactMatch HGNC_symbol:SLC25A30 ; + skos:exactMatch UMLS:C1539784, + HGNC:27371, + HGNC_symbol:SLC25A30 ; biolink:category biolink:Gene . OMIM:610794 a owl:Class ; rdfs:label "ZNF323" ; IAO:0000142 PMID:12147252 ; - oboInOwl:hasDbXref UMLS:C1422403 ; oboInOwl:hasExactSynonym "ZNF323", "zinc finger protein 323" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64288 ; - skos:exactMatch HGNC_symbol:ZSCAN31 ; + skos:exactMatch UMLS:C1422403, + HGNC:14097, + HGNC_symbol:ZSCAN31 ; biolink:category biolink:Gene . OMIM:610795 a owl:Class ; @@ -283576,7 +294731,6 @@ OMIM:610795 a owl:Class ; IAO:0000142 PMID:11825889, PMID:16923119, PMID:9885244 ; - oboInOwl:hasDbXref UMLS:C1823081 ; oboInOwl:hasExactSynonym "SORBS3", "sh3 domain-containing adaptor molecule 1", "sh3d4", @@ -283585,27 +294739,30 @@ OMIM:610795 a owl:Class ; "vinexin-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10174 ; - skos:exactMatch HGNC_symbol:SORBS3 ; + skos:exactMatch UMLS:C1823081, + HGNC:30907, + HGNC_symbol:SORBS3 ; biolink:category biolink:Gene . OMIM:610796 a owl:Class ; rdfs:label "SLC25A31" ; IAO:0000142 PMID:15670820 ; - oboInOwl:hasDbXref UMLS:C1539785 ; oboInOwl:hasExactSynonym "SLC25A31", "adenine nucleotide translocator 4", "adp/atp carrier 4", "solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83447 ; - skos:exactMatch HGNC_symbol:SLC25A31 ; + skos:exactMatch UMLS:C1539785, + HGNC:25319, + HGNC_symbol:SLC25A31 ; biolink:category biolink:Gene . OMIM:610797 a owl:Class ; rdfs:label "epiphyseal dysplasia, baumann iia" ; IAO:0000142 PMID:12884438 ; - oboInOwl:hasDbXref UMLS:C1835830 ; - oboInOwl:hasExactSynonym "epiphyseal dysplasia, baumann iia" . + oboInOwl:hasExactSynonym "epiphyseal dysplasia, baumann iia" ; + skos:exactMatch UMLS:C1835830 . OMIM:610799 a owl:Class ; IAO:0100001 OMIM:607676 ; @@ -283614,14 +294771,15 @@ OMIM:610799 a owl:Class ; OMIM:610800 a owl:Class ; rdfs:label "ATG10" ; IAO:0000142 PMID:12890687 ; - oboInOwl:hasDbXref UMLS:C1825501 ; oboInOwl:hasExactSynonym "ATG10", "apg10, s. cerevisiae, homolog of", "autophagy 10, s. cerevisiae, homolog of", "autophagy-related 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83734 ; - skos:exactMatch HGNC_symbol:ATG10 ; + skos:exactMatch UMLS:C1825501, + HGNC:20315, + HGNC_symbol:ATG10 ; biolink:category biolink:Gene . OMIM:610801 a owl:Class ; @@ -283630,12 +294788,13 @@ OMIM:610801 a owl:Class ; PMID:15713785 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:619468 ; - oboInOwl:hasDbXref UMLS:C1426238 ; oboInOwl:hasExactSynonym "SLC41A1", "solute carrier family 41 (magnesium transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254428 ; - skos:exactMatch HGNC_symbol:SLC41A1 ; + skos:exactMatch UMLS:C1426238, + HGNC:19429, + HGNC_symbol:SLC41A1 ; biolink:category biolink:Gene . OMIM:610802 a owl:Class ; @@ -283643,12 +294802,13 @@ OMIM:610802 a owl:Class ; IAO:0000142 PMID:12810078, PMID:15809054, PMID:27349617 ; - oboInOwl:hasDbXref UMLS:C1429059 ; oboInOwl:hasExactSynonym "SLC41A2", "solute carrier family 41, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84102 ; - skos:exactMatch HGNC_symbol:SLC41A2 ; + skos:exactMatch UMLS:C1429059, + HGNC:31045, + HGNC_symbol:SLC41A2 ; biolink:category biolink:Gene . OMIM:610803 a owl:Class ; @@ -283656,12 +294816,13 @@ OMIM:610803 a owl:Class ; IAO:0000142 PMID:12810078, PMID:27302215, PMID:27349617 ; - oboInOwl:hasDbXref UMLS:C1429060 ; oboInOwl:hasExactSynonym "SLC41A3", "solute carrier family 41, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54946 ; - skos:exactMatch HGNC_symbol:SLC41A3 ; + skos:exactMatch UMLS:C1429060, + HGNC:31046, + HGNC_symbol:SLC41A3 ; biolink:category biolink:Gene . OMIM:610804 a owl:Class ; @@ -283673,14 +294834,15 @@ OMIM:610804 a owl:Class ; PMID:9039502 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:269250 ; - oboInOwl:hasDbXref UMLS:C1427133 ; oboInOwl:hasExactSynonym "SLC35D1", "kiaa0260", "solute carrier family 35 (udp-glucuronic acid/udp-n-acetylgalactosamine dual transporter), member d1", "udp-galactose transporter-related 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23169 ; - skos:exactMatch HGNC_symbol:SLC35D1 ; + skos:exactMatch UMLS:C1427133, + HGNC:20800, + HGNC_symbol:SLC35D1 ; biolink:category biolink:Gene . OMIM:610805 a owl:Class ; @@ -283698,77 +294860,83 @@ OMIM:610805 a owl:Class ; PMID:6381857, PMID:7062725, PMID:844022 ; - oboInOwl:hasDbXref UMLS:C1835826 ; oboInOwl:hasExactSynonym "CAKUT1", "congenital anomalies of kidney and urinary tract 1", "renal hypodysplasia, nonsyndromic, 1" ; rdfs:subClassOf OMIMPS:610805 ; + skos:exactMatch UMLS:C1835826 ; biolink:category biolink:Disease . OMIM:610806 a owl:Class ; rdfs:label "TBC1D3C" ; IAO:0000142 PMID:16863688 ; - oboInOwl:hasDbXref UMLS:C1823232 ; oboInOwl:hasExactSynonym "TBC1D3C", "tbc1 domain family, member 3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:414060 ; - skos:exactMatch HGNC_symbol:TBC1D3C ; + skos:exactMatch UMLS:C1823232, + HGNC:24889, + HGNC_symbol:TBC1D3C ; biolink:category biolink:Gene . OMIM:610807 a owl:Class ; rdfs:label "TBC1D3D" ; IAO:0000142 PMID:16863688 ; - oboInOwl:hasDbXref UMLS:C1823233 ; oboInOwl:hasExactSynonym "TBC1D3D", "tbc1 domain family, member 3d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101060389 ; - skos:exactMatch HGNC_symbol:TBC1D3D ; + skos:exactMatch UMLS:C1823233, + HGNC:28944, + HGNC_symbol:TBC1D3D ; biolink:category biolink:Gene . OMIM:610808 a owl:Class ; rdfs:label "TBC1D3E" ; IAO:0000142 PMID:16863688 ; - oboInOwl:hasDbXref UMLS:C1823234 ; oboInOwl:hasExactSynonym "TBC1D3E", "tbc1 domain family, member 3e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:102723859 ; - skos:exactMatch HGNC_symbol:TBC1D3E ; + skos:exactMatch UMLS:C1823234, + HGNC:27071, + HGNC_symbol:TBC1D3E ; biolink:category biolink:Gene . OMIM:610809 a owl:Class ; rdfs:label "TBC1D3F" ; IAO:0000142 PMID:16863688 ; - oboInOwl:hasDbXref UMLS:C1823235 ; oboInOwl:hasExactSynonym "TBC1D3F", "tbc1 domain family, member 3f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84218 ; - skos:exactMatch HGNC_symbol:TBC1D3F ; + skos:exactMatch UMLS:C1823235, + HGNC:18257, + HGNC_symbol:TBC1D3F ; biolink:category biolink:Gene . OMIM:610810 a owl:Class ; rdfs:label "TBC1D3G" ; IAO:0000142 PMID:16863688 ; - oboInOwl:hasDbXref UMLS:C1823236 ; oboInOwl:hasExactSynonym "TBC1D3G", "tbc1 domain family, member 3g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101060321 ; - skos:exactMatch HGNC_symbol:TBC1D3G ; + skos:exactMatch UMLS:C1823236, + HGNC:29860, + HGNC_symbol:TBC1D3G ; biolink:category biolink:Gene . OMIM:610811 a owl:Class ; rdfs:label "TBC1D3H" ; IAO:0000142 PMID:16863688 ; - oboInOwl:hasDbXref UMLS:C1823237 ; oboInOwl:hasExactSynonym "TBC1D3H", "tbc1 domain family, member 3h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729877 ; - skos:exactMatch HGNC_symbol:TBC1D3H ; + skos:exactMatch UMLS:C1823237, + HGNC:30708, + HGNC_symbol:TBC1D3H ; biolink:category biolink:Gene . OMIM:610812 a owl:Class ; @@ -283780,14 +294948,15 @@ OMIM:610812 a owl:Class ; PMID:23849777 ; RO:0002525 CHR:9606chr16q22.2 ; RO:0003303 OMIM:608647 ; - oboInOwl:hasDbXref UMLS:C1426196 ; oboInOwl:hasExactSynonym "HYDIN", "hydin axonemal central pair apparatus protein", "hydin1", "hydrocephalus-inducing, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54768 ; - skos:exactMatch HGNC_symbol:HYDIN ; + skos:exactMatch UMLS:C1426196, + HGNC:19368, + HGNC_symbol:HYDIN ; biolink:category biolink:Gene . OMIM:610813 a owl:Class ; @@ -283796,7 +294965,6 @@ OMIM:610813 a owl:Class ; PMID:16938426, PMID:19029900, PMID:21030649 ; - oboInOwl:hasDbXref UMLS:C1825555 ; oboInOwl:hasExactSynonym "HYDIN2", "hydin axonemal central pair apparatus protein 2", "hydin, mouse, homolog of, 2", @@ -283804,7 +294972,9 @@ OMIM:610813 a owl:Class ; "kiaa1864" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100288805 ; - skos:exactMatch HGNC_symbol:HYDIN2 ; + skos:exactMatch UMLS:C1825555, + HGNC:33129, + HGNC_symbol:HYDIN2 ; biolink:category biolink:Gene . OMIM:610814 a owl:Class ; @@ -283821,36 +294991,39 @@ OMIM:610816 a owl:Class ; PMID:16949250, PMID:23266187, PMID:25320081 ; - oboInOwl:hasDbXref UMLS:C1822743 ; oboInOwl:hasExactSynonym "SLC25A33", "bone marrow stromal cell mitochondrial carrier protein", "pyrimidine nucleotide carrier 1", "solute carrier family 25 (mitochondrial carrier, pyrimidine nucleotide transporter), member 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84275 ; - skos:exactMatch HGNC_symbol:SLC25A33 ; + skos:exactMatch UMLS:C1822743, + HGNC:29681, + HGNC_symbol:SLC25A33 ; biolink:category biolink:Gene . OMIM:610817 a owl:Class ; rdfs:label "SLC25A34" ; IAO:0000142 PMID:16949250 ; - oboInOwl:hasDbXref UMLS:C1822744 ; oboInOwl:hasExactSynonym "SLC25A34", "solute carrier family 25, member 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284723 ; - skos:exactMatch HGNC_symbol:SLC25A34 ; + skos:exactMatch UMLS:C1822744, + HGNC:27653, + HGNC_symbol:SLC25A34 ; biolink:category biolink:Gene . OMIM:610818 a owl:Class ; rdfs:label "SLC25A35" ; IAO:0000142 PMID:16949250 ; - oboInOwl:hasDbXref UMLS:C1822745 ; oboInOwl:hasExactSynonym "SLC25A35", "solute carrier family 25, member 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399512 ; - skos:exactMatch HGNC_symbol:SLC25A35 ; + skos:exactMatch UMLS:C1822745, + HGNC:31921, + HGNC_symbol:SLC25A35 ; biolink:category biolink:Gene . OMIM:610819 a owl:Class ; @@ -283859,47 +295032,51 @@ OMIM:610819 a owl:Class ; PMID:19412178 ; RO:0002525 CHR:9606chr3p22.1 ; RO:0003303 OMIM:205950 ; - oboInOwl:hasDbXref UMLS:C1822747 ; oboInOwl:hasExactSynonym "SLC25A38", "solute carrier family 25, member 38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54977 ; - skos:exactMatch HGNC_symbol:SLC25A38 ; + skos:exactMatch UMLS:C1822747, + HGNC:26054, + HGNC_symbol:SLC25A38 ; biolink:category biolink:Gene . OMIM:610820 a owl:Class ; rdfs:label "SLC25A39" ; IAO:0000142 PMID:16949250, PMID:19656490 ; - oboInOwl:hasDbXref UMLS:C1822748 ; oboInOwl:hasExactSynonym "SLC25A39", "cgi69", "solute carrier family 25, member 39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51629 ; - skos:exactMatch HGNC_symbol:SLC25A39 ; + skos:exactMatch UMLS:C1822748, + HGNC:24279, + HGNC_symbol:SLC25A39 ; biolink:category biolink:Gene . OMIM:610821 a owl:Class ; rdfs:label "SLC25A40" ; IAO:0000142 PMID:16949250 ; - oboInOwl:hasDbXref UMLS:C1822749 ; oboInOwl:hasExactSynonym "SLC25A40", "solute carrier family 25, member 40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55972 ; - skos:exactMatch HGNC_symbol:SLC25A40 ; + skos:exactMatch UMLS:C1822749, + HGNC:29680, + HGNC_symbol:SLC25A40 ; biolink:category biolink:Gene . OMIM:610822 a owl:Class ; rdfs:label "SLC25A41" ; IAO:0000142 PMID:16949250 ; - oboInOwl:hasDbXref UMLS:C1822750 ; oboInOwl:hasExactSynonym "SLC25A41", "solute carrier family 25, member 41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284427 ; - skos:exactMatch HGNC_symbol:SLC25A41 ; + skos:exactMatch UMLS:C1822750, + HGNC:28533, + HGNC_symbol:SLC25A41 ; biolink:category biolink:Gene . OMIM:610823 a owl:Class ; @@ -283910,35 +295087,38 @@ OMIM:610823 a owl:Class ; PMID:29923093 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:618416 ; - oboInOwl:hasDbXref UMLS:C1822751 ; oboInOwl:hasExactSynonym "SLC25A42", "solute carrier family 25, member 42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284439 ; - skos:exactMatch HGNC_symbol:SLC25A42 ; + skos:exactMatch UMLS:C1822751, + HGNC:28380, + HGNC_symbol:SLC25A42 ; biolink:category biolink:Gene . OMIM:610824 a owl:Class ; rdfs:label "SLC25A44" ; IAO:0000142 PMID:16949250, PMID:31435015 ; - oboInOwl:hasDbXref UMLS:C1822753 ; oboInOwl:hasExactSynonym "SLC25A44", "solute carrier family 25, member 44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9673 ; - skos:exactMatch HGNC_symbol:SLC25A44 ; + skos:exactMatch UMLS:C1822753, + HGNC:29036, + HGNC_symbol:SLC25A44 ; biolink:category biolink:Gene . OMIM:610825 a owl:Class ; rdfs:label "SLC25A45" ; IAO:0000142 PMID:16949250 ; - oboInOwl:hasDbXref UMLS:C1822754 ; oboInOwl:hasExactSynonym "SLC25A45", "solute carrier family 25, member 45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283130 ; - skos:exactMatch HGNC_symbol:SLC25A45 ; + skos:exactMatch UMLS:C1822754, + HGNC:27442, + HGNC_symbol:SLC25A45 ; biolink:category biolink:Gene . OMIM:610826 a owl:Class ; @@ -283951,12 +295131,13 @@ OMIM:610826 a owl:Class ; PMID:28376086 ; RO:0002525 CHR:9606chr5q22.1 ; RO:0003303 OMIM:619303 ; - oboInOwl:hasDbXref UMLS:C1822755 ; oboInOwl:hasExactSynonym "SLC25A46", "solute carrier family 25, member 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91137 ; - skos:exactMatch HGNC_symbol:SLC25A46 ; + skos:exactMatch UMLS:C1822755, + HGNC:25198, + HGNC_symbol:SLC25A46 ; biolink:category biolink:Gene . OMIM:610827 a owl:Class ; @@ -283968,33 +295149,35 @@ OMIM:610827 a owl:Class ; PMID:29652087 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:615095 ; - oboInOwl:hasDbXref UMLS:C1423745 ; oboInOwl:hasExactSynonym "ZNF335", "nif2", "nrc-interacting factor", "zinc finger protein 335" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63925 ; - skos:exactMatch HGNC_symbol:ZNF335 ; + skos:exactMatch UMLS:C1423745, + HGNC:15807, + HGNC_symbol:ZNF335 ; biolink:category biolink:Gene . OMIM:610830 a owl:Class ; rdfs:label "polyosteolysis-hyperostosis syndrome" ; IAO:0000142 PMID:17001672 ; - oboInOwl:hasDbXref UMLS:C1835818 ; - oboInOwl:hasExactSynonym "polyosteolysis-hyperostosis syndrome" . + oboInOwl:hasExactSynonym "polyosteolysis-hyperostosis syndrome" ; + skos:exactMatch UMLS:C1835818 . OMIM:610831 a owl:Class ; rdfs:label "TBC1D10C" ; IAO:0000142 PMID:12477932, PMID:17230191 ; - oboInOwl:hasDbXref UMLS:C1539933 ; oboInOwl:hasExactSynonym "TBC1D10C", "carabin", "tbc1 domain family, member 10c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374403 ; - skos:exactMatch HGNC_symbol:TBC1D10C ; + skos:exactMatch UMLS:C1539933, + HGNC:24702, + HGNC_symbol:TBC1D10C ; biolink:category biolink:Gene . OMIM:610832 a owl:Class ; @@ -284002,10 +295185,10 @@ OMIM:610832 a owl:Class ; IAO:0000142 PMID:17200671, PMID:17200672, PMID:21568838 ; - oboInOwl:hasDbXref UMLS:C1835817 ; oboInOwl:hasExactSynonym "FANCN", "fanconi anemia, complementation group n" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C1835817 ; biolink:category biolink:Disease . OMIM:610833 a owl:Class ; @@ -284014,20 +295197,20 @@ OMIM:610833 a owl:Class ; PMID:18570629 ; RO:0002525 CHR:9606chr20p11.23 ; RO:0003303 OMIM:619717 ; - oboInOwl:hasDbXref UMLS:C1423824 ; oboInOwl:hasExactSynonym "NAA20", "n-acetyltransferase 5", "n-alpha-acetyltransferase 20, natb catalytic subunit", "nat3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51126 ; - skos:exactMatch HGNC_symbol:NAA20 ; + skos:exactMatch UMLS:C1423824, + HGNC:15908, + HGNC_symbol:NAA20 ; biolink:category biolink:Gene . OMIM:610834 a owl:Class ; rdfs:label "NAA50" ; IAO:0000142 PMID:16507339 ; - oboInOwl:hasDbXref UMLS:C1826357 ; oboInOwl:hasExactSynonym "NAA50", "n-acetyltransferase 13", "n-alpha-acetyltransferase 50, nate catalytic subunit", @@ -284035,44 +295218,48 @@ OMIM:610834 a owl:Class ; "san, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80218 ; - skos:exactMatch HGNC_symbol:NAA50 ; + skos:exactMatch UMLS:C1826357, + HGNC:29533, + HGNC_symbol:NAA50 ; biolink:category biolink:Gene . OMIM:610835 a owl:Class ; rdfs:label "NARG2" ; IAO:0000142 PMID:11297529, PMID:15606750 ; - oboInOwl:hasDbXref UMLS:C1538042 ; oboInOwl:hasExactSynonym "NARG2", "nmda receptor-regulated 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79664 ; - skos:exactMatch HGNC_symbol:ICE2 ; + skos:exactMatch UMLS:C1538042, + HGNC:29885, + HGNC_symbol:ICE2 ; biolink:category biolink:Gene . OMIM:610837 a owl:Class ; rdfs:label "BCL2L12" ; IAO:0000142 PMID:11401436, PMID:17210792 ; - oboInOwl:hasDbXref UMLS:C1422195 ; oboInOwl:hasExactSynonym "BCL2L12", "bcl2-like 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83596 ; - skos:exactMatch HGNC_symbol:BCL2L12 ; + skos:exactMatch UMLS:C1422195, + HGNC:13787, + HGNC_symbol:BCL2L12 ; biolink:category biolink:Gene . OMIM:610840 a owl:Class ; rdfs:label "mitral valve prolapse 3" ; IAO:0000142 PMID:16172273, PMID:31118289 ; - oboInOwl:hasDbXref UMLS:C1835814, - ORPHA:741 ; oboInOwl:hasExactSynonym "MVP3", "mitral valve prolapse 3", "mitral valve prolapse, myxomatous 3", "myxomatous mitral valve prolapse 3" ; rdfs:subClassOf OMIMPS:157700 ; + skos:exactMatch UMLS:C1835814, + ORPHA:741 ; biolink:category biolink:Disease . OMIM:610841 a owl:Class ; @@ -284081,13 +295268,14 @@ OMIM:610841 a owl:Class ; PMID:11463338, PMID:16860747, PMID:18160041 ; - oboInOwl:hasDbXref UMLS:C1426088 ; oboInOwl:hasExactSynonym "STIM2", "kiaa1482", "stromal interaction molecule 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57620 ; - skos:exactMatch HGNC_symbol:STIM2 ; + skos:exactMatch UMLS:C1426088, + HGNC:19205, + HGNC_symbol:STIM2 ; biolink:category biolink:Gene . OMIM:610842 a owl:Class ; @@ -284097,22 +295285,23 @@ OMIM:610842 a owl:Class ; PMID:2808851, PMID:5548470, PMID:9615107 ; - oboInOwl:hasDbXref UMLS:C1835813 ; oboInOwl:hasExactSynonym "pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency", "pxe-like disorder with multiple coagulation factor deficiency" ; + skos:exactMatch UMLS:C1835813 ; biolink:category biolink:Disease . OMIM:610843 a owl:Class ; rdfs:label "UQCR10" ; IAO:0000142 PMID:8592474 ; - oboInOwl:hasDbXref UMLS:C1835812 ; oboInOwl:hasExactSynonym "UQCR10", "cytochrome c1-associated protein", "ubiquinol-cytochrome c reductase complex, 7.2-kd subunit", "ubiquinol-cytochrome c reductase, complex 3 subunit 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29796 ; - skos:exactMatch HGNC_symbol:UQCR10 ; + skos:exactMatch UMLS:C1835812, + HGNC:30863, + HGNC_symbol:UQCR10 ; biolink:category biolink:Gene . OMIM:610844 a owl:Class ; @@ -284131,10 +295320,6 @@ OMIM:610844 a owl:Class ; PMID:26556829 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:604360 ; - oboInOwl:hasDbXref UMLS:C1420344, - UMLS:C1858479, - UMLS:C1865864, - UMLS:C4225253 ; oboInOwl:hasExactSynonym "SPG11", "flj21439", "kiaa1840", @@ -284142,56 +295327,65 @@ OMIM:610844 a owl:Class ; "spg11 vesicle trafficking associated, spatacsin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80208 ; - skos:exactMatch HGNC_symbol:SPG11 ; + skos:exactMatch UMLS:C1420344, + UMLS:C1858479, + UMLS:C1865864, + UMLS:C4225253, + HGNC:11226, + HGNC_symbol:SPG11 ; biolink:category biolink:Gene . OMIM:610845 a owl:Class ; rdfs:label "SLC35B3" ; IAO:0000142 PMID:16492677 ; - oboInOwl:hasDbXref UMLS:C1427638 ; oboInOwl:hasExactSynonym "3-prime-phosphoadenosine 5-prime-phosphosulfate transporter", "SLC35B3", "paps transporter 2", "solute carrier family 35 (3-prime-phosphoadenosine 5-prime-phosphosulfate transporter), member b3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51000 ; - skos:exactMatch HGNC_symbol:SLC35B3 ; + skos:exactMatch UMLS:C1427638, + HGNC:21601, + HGNC_symbol:SLC35B3 ; biolink:category biolink:Gene . OMIM:610846 a owl:Class ; rdfs:label "LRRC10" ; IAO:0000142 PMID:14751244 ; - oboInOwl:hasDbXref UMLS:C1537597 ; oboInOwl:hasExactSynonym "LRRC10", "heart-restricted leucine-rich repeat protein", "leucine-rich repeat-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:376132 ; - skos:exactMatch HGNC_symbol:LRRC10 ; + skos:exactMatch UMLS:C1537597, + HGNC:20264, + HGNC_symbol:LRRC10 ; biolink:category biolink:Gene . OMIM:610847 a owl:Class ; rdfs:label "ZNF322" ; IAO:0000142 PMID:15555580 ; - oboInOwl:hasDbXref UMLS:C1428177 ; oboInOwl:hasExactSynonym "ZNF322", "zinc finger protein 322", "zinc finger protein 322a", "zinc finger protein 489" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79692 ; - skos:exactMatch HGNC_symbol:ZNF322 ; + skos:exactMatch UMLS:C1428177, + HGNC:23640, + HGNC_symbol:ZNF322 ; biolink:category biolink:Gene . OMIM:610848 a owl:Class ; rdfs:label "REP15" ; IAO:0000142 PMID:16195351 ; - oboInOwl:hasDbXref UMLS:C1835811 ; oboInOwl:hasExactSynonym "REP15", "rab15 effector protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387849 ; - skos:exactMatch HGNC_symbol:REP15 ; + skos:exactMatch UMLS:C1835811, + HGNC:33748, + HGNC_symbol:REP15 ; biolink:category biolink:Gene . OMIM:610849 a owl:Class ; @@ -284201,24 +295395,26 @@ OMIM:610849 a owl:Class ; PMID:21074048, PMID:21262966, PMID:23897886 ; - oboInOwl:hasDbXref UMLS:C1823541 ; oboInOwl:hasExactSynonym "TTLL6", "tubulin tyrosine ligase-like 6", "tubulin tyrosine ligase-like family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284076 ; - skos:exactMatch HGNC_symbol:TTLL6 ; + skos:exactMatch UMLS:C1823541, + HGNC:26664, + HGNC_symbol:TTLL6 ; biolink:category biolink:Gene . OMIM:610850 a owl:Class ; rdfs:label "XAB2" ; IAO:0000142 PMID:10944529 ; - oboInOwl:hasDbXref UMLS:C1422399 ; oboInOwl:hasExactSynonym "XAB2", "xpa-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56949 ; - skos:exactMatch HGNC_symbol:XAB2 ; + skos:exactMatch UMLS:C1422399, + HGNC:14089, + HGNC_symbol:XAB2 ; biolink:category biolink:Gene . OMIM:610851 a owl:Class ; @@ -284226,7 +295422,6 @@ OMIM:610851 a owl:Class ; IAO:0000142 PMID:11230166, PMID:11256614, PMID:15775984 ; - oboInOwl:hasDbXref UMLS:C1540235 ; oboInOwl:hasExactSynonym "2c18", "AP1AR", "adaptor-related protein complex 1-associated regulatory protein", @@ -284234,20 +295429,23 @@ OMIM:610851 a owl:Class ; "gamma-1 adaptin brefeldin-a resistance protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55435 ; - skos:exactMatch HGNC_symbol:AP1AR ; + skos:exactMatch UMLS:C1540235, + HGNC:28808, + HGNC_symbol:AP1AR ; biolink:category biolink:Gene . OMIM:610853 a owl:Class ; rdfs:label "AHCTF1" ; IAO:0000142 PMID:11952839, PMID:17098863 ; - oboInOwl:hasDbXref UMLS:C1826615 ; oboInOwl:hasExactSynonym "AHCTF1", "at-hook-containing transcription factor 1", "embryonic large molecule derived from yolk sac" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25909 ; - skos:exactMatch HGNC_symbol:AHCTF1 ; + skos:exactMatch UMLS:C1826615, + HGNC:24618, + HGNC_symbol:AHCTF1 ; biolink:category biolink:Gene . OMIM:610854 a owl:Class ; @@ -284264,38 +295462,41 @@ OMIM:610855 a owl:Class ; PMID:21211618 ; RO:0002525 CHR:9606chr10p12.1 ; RO:0003303 OMIM:188000 ; - oboInOwl:hasDbXref UMLS:C1428810 ; oboInOwl:hasExactSynonym "ANKRD26", "ankyrin repeat domain-containing protein 26", "kiaa1074" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22852 ; - skos:exactMatch HGNC_symbol:ANKRD26 ; + skos:exactMatch UMLS:C1428810, + HGNC:29186, + HGNC_symbol:ANKRD26 ; biolink:category biolink:Gene . OMIM:610856 a owl:Class ; rdfs:label "ANKRD30A" ; IAO:0000142 PMID:11280766, PMID:16364570 ; - oboInOwl:hasDbXref UMLS:C1538287 ; oboInOwl:hasExactSynonym "ANKRD30A", "ankyrin repeat domain-containing protein 30a", "breast cancer antigen ny-br-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91074 ; - skos:exactMatch HGNC_symbol:ANKRD30A ; + skos:exactMatch UMLS:C1538287, + HGNC:17234, + HGNC_symbol:ANKRD30A ; biolink:category biolink:Gene . OMIM:610857 a owl:Class ; rdfs:label "MUCL1" ; IAO:0000142 PMID:12019145 ; - oboInOwl:hasDbXref UMLS:C1334347 ; oboInOwl:hasExactSynonym "MUCL1", "mucin-like 1", "small breast epithelial mucin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118430 ; - skos:exactMatch HGNC_symbol:MUCL1 ; + skos:exactMatch UMLS:C1334347, + HGNC:30588, + HGNC_symbol:MUCL1 ; biolink:category biolink:Gene . OMIM:610858 a owl:Class ; @@ -284304,7 +295505,6 @@ OMIM:610858 a owl:Class ; PMID:15147888, PMID:16950395, PMID:24608264 ; - oboInOwl:hasDbXref UMLS:C1427962 ; oboInOwl:hasExactSynonym "RNA transcription, translation, and transport factor", "RTRAF", "cgi99", @@ -284312,7 +295512,9 @@ OMIM:610858 a owl:Class ; "cle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51637 ; - skos:exactMatch HGNC_symbol:RTRAF ; + skos:exactMatch UMLS:C1427962, + HGNC:23169, + HGNC_symbol:RTRAF ; biolink:category biolink:Gene . OMIM:610859 a owl:Class ; @@ -284328,14 +295530,15 @@ OMIM:610859 a owl:Class ; PMID:29479355 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:618131 ; - oboInOwl:hasDbXref UMLS:C2239891, - UMLS:C4748304 ; oboInOwl:hasExactSynonym "CARMIL2", "capping protein regulator and myosin 1 linker 2", "rgd-, leucine-rich repeat-, tropomodulin domain-, and proline-rich domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146206 ; - skos:exactMatch HGNC_symbol:CARMIL2 ; + skos:exactMatch UMLS:C2239891, + UMLS:C4748304, + HGNC:27089, + HGNC_symbol:CARMIL2 ; biolink:category biolink:Gene . OMIM:610860 a owl:Class ; @@ -284361,23 +295564,23 @@ OMIM:610860 a owl:Class ; PMID:9490286 ; RO:0002525 CHR:9606chr1p21.2 ; RO:0003303 OMIM:232400 ; - oboInOwl:hasDbXref UMLS:C1412279, - UMLS:C3695005, - UMLS:C3695006, - UMLS:C3695007 ; oboInOwl:hasExactSynonym "AGL", "amylo-1,6-glucosidase, 4-alpha-glucanotransferase", "glycogen debrancher enzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:178 ; - skos:exactMatch HGNC_symbol:AGL ; + skos:exactMatch UMLS:C1412279, + UMLS:C3695005, + UMLS:C3695006, + UMLS:C3695007, + HGNC:321, + HGNC_symbol:AGL ; biolink:category biolink:Gene . OMIM:610861 a owl:Class ; rdfs:label "SYNE3" ; IAO:0000142 PMID:16330710, PMID:20711465 ; - oboInOwl:hasDbXref UMLS:C1426488 ; oboInOwl:hasExactSynonym "SYNE3", "chromosome 14 open reading frame 49", "nesprin 3", @@ -284385,13 +295588,14 @@ OMIM:610861 a owl:Class ; "spectrin repeat-containing nuclear envelope protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161176 ; - skos:exactMatch HGNC_symbol:SYNE3 ; + skos:exactMatch UMLS:C1426488, + HGNC:19861, + HGNC_symbol:SYNE3 ; biolink:category biolink:Gene . OMIM:610862 a owl:Class ; rdfs:label "DEGS2" ; IAO:0000142 PMID:15063729 ; - oboInOwl:hasDbXref UMLS:C1539266 ; oboInOwl:hasExactSynonym "DEGS2", "degenerative spermatocyte, drosophila, homolog of, 2", "delta(4)-desaturase, sphingolipid, 2", @@ -284399,7 +295603,9 @@ OMIM:610862 a owl:Class ; "sphingolipid delta-4-desaturase/c4-hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123099 ; - skos:exactMatch HGNC_symbol:DEGS2 ; + skos:exactMatch UMLS:C1539266, + HGNC:20113, + HGNC_symbol:DEGS2 ; biolink:category biolink:Gene . OMIM:610863 a owl:Class ; @@ -284411,25 +295617,27 @@ OMIM:610863 a owl:Class ; PMID:23434117 ; RO:0002525 CHR:9606chr3q26.33 ; RO:0003303 OMIM:615185 ; - oboInOwl:hasDbXref UMLS:C1427102 ; oboInOwl:hasExactSynonym "GNB4", "g protein, beta-4 subunit", "guanine nucleotide-binding protein, beta-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59345 ; - skos:exactMatch HGNC_symbol:GNB4 ; + skos:exactMatch UMLS:C1427102, + HGNC:20731, + HGNC_symbol:GNB4 ; biolink:category biolink:Gene . OMIM:610864 a owl:Class ; rdfs:label "FLVCR1-DT" ; IAO:0000142 PMID:11943475 ; - oboInOwl:hasDbXref UMLS:C1970487 ; oboInOwl:hasExactSynonym "FLVCR1-DT", "flvcr1 divergent transcript", "lqk1 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642946 ; - skos:exactMatch HGNC_symbol:FLVCR1-DT ; + skos:exactMatch UMLS:C1970487, + HGNC:39077, + HGNC_symbol:FLVCR1-DT ; biolink:category biolink:Gene . OMIM:610865 a owl:Class ; @@ -284445,7 +295653,6 @@ OMIM:610865 a owl:Class ; PMID:25677735 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:225790 ; - oboInOwl:hasDbXref UMLS:C1426689 ; oboInOwl:hasExactSynonym "FLVCR2", "calcium chelate transporter", "chromosome 14 open reading frame 58", @@ -284454,32 +295661,36 @@ OMIM:610865 a owl:Class ; "flvcr-like on chromosome 14q" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55640 ; - skos:exactMatch HGNC_symbol:FLVCR2 ; + skos:exactMatch UMLS:C1426689, + HGNC:20105, + HGNC_symbol:FLVCR2 ; biolink:category biolink:Gene . OMIM:610866 a owl:Class ; rdfs:label "UCKL1" ; IAO:0000142 PMID:12199906, PMID:16709802 ; - oboInOwl:hasDbXref UMLS:C1540158 ; oboInOwl:hasExactSynonym "UCKL1", "uck1-like", "uridine/cytidine kinase-like 1", "urkl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54963 ; - skos:exactMatch HGNC_symbol:UCKL1 ; + skos:exactMatch UMLS:C1540158, + HGNC:15938, + HGNC_symbol:UCKL1 ; biolink:category biolink:Gene . OMIM:610867 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12676565, PMID:29784826 ; - oboInOwl:hasDbXref UMLS:C1537617 ; oboInOwl:hasExactSynonym "leucine-rich repeat transmembrane protein 1: lrrtm1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347730 ; - skos:exactMatch HGNC_symbol:LRRTM1 ; + skos:exactMatch UMLS:C1537617, + HGNC:19408, + HGNC_symbol:LRRTM1 ; biolink:category biolink:Gene . OMIM:610868 a owl:Class ; @@ -284488,37 +295699,40 @@ OMIM:610868 a owl:Class ; PMID:20064387, PMID:29784826, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1537618 ; oboInOwl:hasExactSynonym "LRRTM2", "kiaa0416", "leucine-rich repeat transmembrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26045 ; - skos:exactMatch HGNC_symbol:LRRTM2 ; + skos:exactMatch UMLS:C1537618, + HGNC:19409, + HGNC_symbol:LRRTM2 ; biolink:category biolink:Gene . OMIM:610869 a owl:Class ; rdfs:label "LRRTM3" ; IAO:0000142 PMID:12676565, PMID:17098871 ; - oboInOwl:hasDbXref UMLS:C1426227 ; oboInOwl:hasExactSynonym "LRRTM3", "leucine-rich repeat transmembrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347731 ; - skos:exactMatch HGNC_symbol:LRRTM3 ; + skos:exactMatch UMLS:C1426227, + HGNC:19410, + HGNC_symbol:LRRTM3 ; biolink:category biolink:Gene . OMIM:610870 a owl:Class ; rdfs:label "LRRTM4" ; IAO:0000142 PMID:12676565, PMID:31974009 ; - oboInOwl:hasDbXref UMLS:C1537619 ; oboInOwl:hasExactSynonym "LRRTM4", "leucine-rich repeat transmembrane protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80059 ; - skos:exactMatch HGNC_symbol:LRRTM4 ; + skos:exactMatch UMLS:C1537619, + HGNC:19411, + HGNC_symbol:LRRTM4 ; biolink:category biolink:Gene . OMIM:610871 a owl:Class ; @@ -284528,49 +295742,52 @@ OMIM:610871 a owl:Class ; PMID:469586, PMID:7162782, PMID:9650690 ; - oboInOwl:hasDbXref UMLS:C1970485 ; oboInOwl:hasExactSynonym "sakoda complex", "sakoda spectrum", - "sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip/palate" . + "sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip/palate" ; + skos:exactMatch UMLS:C1970485 . OMIM:610872 a owl:Class ; rdfs:label "IBRDC3" ; IAO:0000142 PMID:10438909, PMID:10912506, PMID:16709802 ; - oboInOwl:hasDbXref UMLS:C1428629 ; oboInOwl:hasExactSynonym "IBRDC3", "ibr domain-containing protein 3", "natural killer lytic-associated molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127544 ; - skos:exactMatch HGNC_symbol:RNF19B ; + skos:exactMatch UMLS:C1428629, + HGNC:26886, + HGNC_symbol:RNF19B ; biolink:category biolink:Gene . OMIM:610874 a owl:Class ; rdfs:label "SPATC1" ; IAO:0000142 PMID:15280373 ; - oboInOwl:hasDbXref UMLS:C1539813 ; oboInOwl:hasExactSynonym "SPATC1", "speriolin", "spermatogenesis and centriole-associated 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375686 ; - skos:exactMatch HGNC_symbol:SPATC1 ; + skos:exactMatch UMLS:C1539813, + HGNC:30510, + HGNC_symbol:SPATC1 ; biolink:category biolink:Gene . OMIM:610875 a owl:Class ; rdfs:label "SAPS1" ; IAO:0000142 PMID:10470851, PMID:16769727 ; - oboInOwl:hasDbXref UMLS:C1826977 ; oboInOwl:hasExactSynonym "SAPS1", "kiaa1115", "protein phosphatase 6, regulatory subunit 1", "saps domain family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22870 ; - skos:exactMatch HGNC_symbol:PPP6R1 ; + skos:exactMatch UMLS:C1826977, + HGNC:29195, + HGNC_symbol:PPP6R1 ; biolink:category biolink:Gene . OMIM:610876 a owl:Class ; @@ -284584,27 +295801,29 @@ OMIM:610876 a owl:Class ; PMID:26437029 ; RO:0002525 CHR:9606chr6q16.3 ; RO:0003303 OMIM:616756 ; - oboInOwl:hasDbXref UMLS:C1427259 ; oboInOwl:hasExactSynonym "HACE1", "hect domain- and ankyrin repeat-containing e3 ubiquitin protein ligase 1", "kiaa1320" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57531 ; - skos:exactMatch HGNC_symbol:HACE1 ; + skos:exactMatch UMLS:C1427259, + HGNC:21033, + HGNC_symbol:HACE1 ; biolink:category biolink:Gene . OMIM:610877 a owl:Class ; rdfs:label "SAPS2" ; IAO:0000142 PMID:16769727, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1826978 ; oboInOwl:hasExactSynonym "SAPS2", "kiaa0685", "protein phosphatase 6, regulatory subunit 2", "saps domain family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9701 ; - skos:exactMatch HGNC_symbol:PPP6R2 ; + skos:exactMatch UMLS:C1826978, + HGNC:19253, + HGNC_symbol:PPP6R2 ; biolink:category biolink:Gene . OMIM:610879 a owl:Class ; @@ -284612,7 +295831,6 @@ OMIM:610879 a owl:Class ; IAO:0000142 PMID:10997877, PMID:11401438, PMID:16769727 ; - oboInOwl:hasDbXref UMLS:C1822609 ; oboInOwl:hasExactSynonym "SAPS3", "chromosome 11 open reading frame 23", "kiaa1558", @@ -284620,18 +295838,21 @@ OMIM:610879 a owl:Class ; "saps domain family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55291 ; - skos:exactMatch HGNC_symbol:PPP6R3 ; + skos:exactMatch UMLS:C1822609, + HGNC:1173, + HGNC_symbol:PPP6R3 ; biolink:category biolink:Gene . OMIM:610880 a owl:Class ; rdfs:label "C11ORF24" ; IAO:0000142 PMID:11401438 ; - oboInOwl:hasDbXref UMLS:C1412873 ; oboInOwl:hasExactSynonym "C11ORF24", "chromosome 11 open reading frame 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53838 ; - skos:exactMatch HGNC_symbol:C11orf24 ; + skos:exactMatch UMLS:C1412873, + HGNC:1174, + HGNC_symbol:C11orf24 ; biolink:category biolink:Gene . OMIM:610881 a owl:Class ; @@ -284643,8 +295864,6 @@ OMIM:610881 a owl:Class ; PMID:29276005 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:617788 ; - oboInOwl:hasDbXref UMLS:C1539900, - UMLS:C4540474 ; oboInOwl:hasExactSynonym "KMT5B", "cgi85", "lysine methyltransferase 5b", @@ -284653,7 +295872,10 @@ OMIM:610881 a owl:Class ; "suppressor of variegation 4-20, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51111 ; - skos:exactMatch HGNC_symbol:KMT5B ; + skos:exactMatch UMLS:C1539900, + UMLS:C4540474, + HGNC:24283, + HGNC_symbol:KMT5B ; biolink:category biolink:Gene . OMIM:610882 a owl:Class ; @@ -284662,13 +295884,14 @@ OMIM:610882 a owl:Class ; PMID:14654843, PMID:15269182, PMID:9430706 ; - oboInOwl:hasDbXref UMLS:C1420427 ; oboInOwl:hasExactSynonym "SSNA1", "nuclear autoantigen, 14-kd", "sjogren syndrome nuclear autoantigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8636 ; - skos:exactMatch HGNC_symbol:SSNA1 ; + skos:exactMatch UMLS:C1420427, + HGNC:11321, + HGNC_symbol:SSNA1 ; biolink:category biolink:Gene . OMIM:610883 a owl:Class ; @@ -284691,76 +295914,80 @@ OMIM:610883 a owl:Class ; PMID:32656927, PMID:8725788 ; RO:0002525 CHR:9606chr17p11.2 ; - oboInOwl:hasDbXref UMLS:C2931246, - ORPHA:1713 ; oboInOwl:hasExactSynonym "PTLS", "chromosome 17p11.2 duplication syndrome", "potocki-lupski syndrome" ; + skos:exactMatch UMLS:C2931246, + ORPHA:1713 ; biolink:category biolink:Disease . OMIM:610884 a owl:Class ; rdfs:label "FAAP24" ; IAO:0000142 PMID:17289582, PMID:18995830 ; - oboInOwl:hasDbXref UMLS:C1824481 ; oboInOwl:hasExactSynonym "FAAP24", "chromosome 19 open reading frame 40", "fa core complex-associated protein 24", "fanconi anemia-associated protein, 24-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91442 ; - skos:exactMatch HGNC_symbol:FAAP24 ; + skos:exactMatch UMLS:C1824481, + HGNC:28467, + HGNC_symbol:FAAP24 ; biolink:category biolink:Gene . OMIM:610885 a owl:Class ; rdfs:label "EME1" ; IAO:0000142 PMID:12721304, PMID:14609959 ; - oboInOwl:hasDbXref UMLS:C1428432 ; oboInOwl:hasExactSynonym "EME1", "eme1, s. pombe, homolog of, 1", "essential meiotic endonuclease 1, s. pombe, homolog of, 1", "essential meiotic structure-specific endonuclease 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146956 ; - skos:exactMatch HGNC_symbol:EME1 ; + skos:exactMatch UMLS:C1428432, + HGNC:24965, + HGNC_symbol:EME1 ; biolink:category biolink:Gene . OMIM:610886 a owl:Class ; rdfs:label "EME2" ; IAO:0000142 PMID:12721304, PMID:17289582 ; - oboInOwl:hasDbXref UMLS:C1428650 ; oboInOwl:hasExactSynonym "EME2", "eme1, s. pombe, homolog of, 2", "essential meiotic endonuclease 1, s. pombe, homolog of, 2", "essential meiotic structure-specific endonuclease 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197342 ; - skos:exactMatch HGNC_symbol:EME2 ; + skos:exactMatch UMLS:C1428650, + HGNC:27289, + HGNC_symbol:EME2 ; biolink:category biolink:Gene . OMIM:610887 a owl:Class ; rdfs:label "POLN" ; IAO:0000142 PMID:12794064 ; - oboInOwl:hasDbXref UMLS:C1425841 ; oboInOwl:hasExactSynonym "DNA polymerase n", "POLN", "pol4p", "polymerase, dna, nu" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353497 ; - skos:exactMatch HGNC_symbol:POLN ; + skos:exactMatch UMLS:C1425841, + HGNC:18870, + HGNC_symbol:POLN ; biolink:category biolink:Gene . OMIM:610888 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12508346 ; - oboInOwl:hasDbXref UMLS:C1970481 ; oboInOwl:hasExactSynonym "gastric cancer-related gene 224", "gcrg224" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:360219 ; + skos:exactMatch UMLS:C1970481 ; biolink:category biolink:Gene . OMIM:610889 a owl:Class ; @@ -284768,53 +295995,57 @@ OMIM:610889 a owl:Class ; IAO:0000142 PMID:11032817, PMID:11809816, PMID:12767927 ; - oboInOwl:hasDbXref UMLS:C1427040 ; oboInOwl:hasExactSynonym "IPO11", "importin 11", "ran-binding protein 11", "synleurin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51194 ; - skos:exactMatch HGNC_symbol:IPO11 ; + skos:exactMatch UMLS:C1427040, + HGNC:20628, + HGNC_symbol:IPO11 ; biolink:category biolink:Gene . OMIM:610890 a owl:Class ; rdfs:label "RGS7BP" ; IAO:0000142 PMID:15632198, PMID:15897264 ; - oboInOwl:hasDbXref UMLS:C1826820 ; oboInOwl:hasExactSynonym "RGS7BP", "r7-binding protein", "regulator of g protein signaling 7-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401190 ; - skos:exactMatch HGNC_symbol:RGS7BP ; + skos:exactMatch UMLS:C1826820, + HGNC:23271, + HGNC_symbol:RGS7BP ; biolink:category biolink:Gene . OMIM:610891 a owl:Class ; rdfs:label "FAM102A" ; IAO:0000142 PMID:14605097 ; - oboInOwl:hasDbXref UMLS:C1825226 ; oboInOwl:hasExactSynonym "FAM102A", "early estrogen-induced gene 1", "family with sequence similarity 102, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399665 ; - skos:exactMatch HGNC_symbol:FAM102A ; + skos:exactMatch UMLS:C1825226, + HGNC:31419, + HGNC_symbol:FAM102A ; biolink:category biolink:Gene . OMIM:610892 a owl:Class ; rdfs:label "SYT14L" ; IAO:0000142 PMID:11543631, PMID:16376304 ; - oboInOwl:hasDbXref UMLS:C1970480 ; oboInOwl:hasExactSynonym "SYT14L", "chr415syt", "synaptotagmin 14-like protein", "sytdep" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401135 ; - skos:exactMatch HGNC_symbol:SYT14P1 ; + skos:exactMatch UMLS:C1970480, + HGNC:33429, + HGNC_symbol:SYT14P1 ; biolink:category biolink:Gene . OMIM:610893 a owl:Class ; @@ -284824,7 +296055,6 @@ OMIM:610893 a owl:Class ; PMID:17928861, PMID:18687924, PMID:26040713 ; - oboInOwl:hasDbXref UMLS:C1538455 ; oboInOwl:hasExactSynonym "CHMP2A", "bc2", "charged multivesicular body protein 2a", @@ -284834,20 +296064,23 @@ OMIM:610893 a owl:Class ; "vps2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27243 ; - skos:exactMatch HGNC_symbol:CHMP2A ; + skos:exactMatch UMLS:C1538455, + HGNC:30216, + HGNC_symbol:CHMP2A ; biolink:category biolink:Gene . OMIM:610894 a owl:Class ; rdfs:label "NRG4" ; IAO:0000142 PMID:10348342, PMID:15583696 ; - oboInOwl:hasDbXref UMLS:C1826470 ; oboInOwl:hasExactSynonym "NRG4", "heregulin 4", "neuregulin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145957 ; - skos:exactMatch HGNC_symbol:NRG4 ; + skos:exactMatch UMLS:C1826470, + HGNC:29862, + HGNC_symbol:NRG4 ; biolink:category biolink:Gene . OMIM:610895 a owl:Class ; @@ -284857,14 +296090,15 @@ OMIM:610895 a owl:Class ; PMID:23046573, PMID:24019467, PMID:26942165 ; - oboInOwl:hasDbXref UMLS:C1538108 ; oboInOwl:hasExactSynonym "WFIKKN2", "gdf-associated serum protein 1", "wap, follistatin, immunoglobulin, kunitz, and ntr domains-containing protein 2", "wfikkn related-protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124857 ; - skos:exactMatch HGNC_symbol:WFIKKN2 ; + skos:exactMatch UMLS:C1538108, + HGNC:30916, + HGNC_symbol:WFIKKN2 ; biolink:category biolink:Gene . OMIM:610897 a owl:Class ; @@ -284879,9 +296113,6 @@ OMIM:610897 a owl:Class ; PMID:26040713 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:605387 ; - oboInOwl:hasDbXref UMLS:C1538458, - UMLS:C1854311, - UMLS:C4017230 ; oboInOwl:hasExactSynonym "CHMP4B", "charged multivesicular body protein 4b", "chmp family, member 4b", @@ -284890,7 +296121,11 @@ OMIM:610897 a owl:Class ; "snf7-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128866 ; - skos:exactMatch HGNC_symbol:CHMP4B ; + skos:exactMatch UMLS:C1538458, + UMLS:C1854311, + UMLS:C4017230, + HGNC:16171, + HGNC_symbol:CHMP4B ; biolink:category biolink:Gene . OMIM:610899 a owl:Class ; @@ -284899,7 +296134,6 @@ OMIM:610899 a owl:Class ; PMID:14678797, PMID:16730941, PMID:22422861 ; - oboInOwl:hasDbXref UMLS:C1538459 ; oboInOwl:hasExactSynonym "CHMP4C", "charged multivesicular body protein 4c", "chmp family, member 4c", @@ -284908,7 +296142,9 @@ OMIM:610899 a owl:Class ; "snf7-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92421 ; - skos:exactMatch HGNC_symbol:CHMP4C ; + skos:exactMatch UMLS:C1538459, + HGNC:30599, + HGNC_symbol:CHMP4C ; biolink:category biolink:Gene . OMIM:610900 a owl:Class ; @@ -284917,7 +296153,6 @@ OMIM:610900 a owl:Class ; PMID:16730941, PMID:26195726, PMID:28553951 ; - oboInOwl:hasDbXref UMLS:C1538460 ; oboInOwl:hasExactSynonym "CHMP5", "charged multivesicular body protein 5", "chmp family, member 5", @@ -284925,7 +296160,9 @@ OMIM:610900 a owl:Class ; "hspc177" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51510 ; - skos:exactMatch HGNC_symbol:CHMP5 ; + skos:exactMatch UMLS:C1538460, + HGNC:26942, + HGNC_symbol:CHMP5 ; biolink:category biolink:Gene . OMIM:610901 a owl:Class ; @@ -284933,7 +296170,6 @@ OMIM:610901 a owl:Class ; IAO:0000142 PMID:15511219, PMID:16730941, PMID:19234443 ; - oboInOwl:hasDbXref UMLS:C1538461 ; oboInOwl:hasExactSynonym "CHMP6", "charged multivesicular body protein 6", "chmp family, member 6", @@ -284941,7 +296177,9 @@ OMIM:610901 a owl:Class ; "vps20, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79643 ; - skos:exactMatch HGNC_symbol:CHMP6 ; + skos:exactMatch UMLS:C1538461, + HGNC:25675, + HGNC_symbol:CHMP6 ; biolink:category biolink:Gene . OMIM:610902 a owl:Class ; @@ -284950,7 +296188,6 @@ OMIM:610902 a owl:Class ; PMID:11984006, PMID:15173323, PMID:15644320 ; - oboInOwl:hasDbXref UMLS:C1427206 ; oboInOwl:hasExactSynonym "VTA1", "chromosome 6 open reading frame 55", "dopamine-responsive gene 1", @@ -284960,21 +296197,24 @@ OMIM:610902 a owl:Class ; "vta1, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51534 ; - skos:exactMatch HGNC_symbol:VTA1 ; + skos:exactMatch UMLS:C1427206, + HGNC:20954, + HGNC_symbol:VTA1 ; biolink:category biolink:Gene . OMIM:610903 a owl:Class ; rdfs:label "VPS36" ; IAO:0000142 PMID:11278625, PMID:15755741 ; - oboInOwl:hasDbXref UMLS:C1823640 ; oboInOwl:hasExactSynonym "VPS36", "ell-associated protein, 45-kd", "vacuolar protein sorting 36 homolog", "vacuolar protein sorting 36, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51028 ; - skos:exactMatch HGNC_symbol:VPS36 ; + skos:exactMatch UMLS:C1823640, + HGNC:20312, + HGNC_symbol:VPS36 ; biolink:category biolink:Gene . OMIM:610904 a owl:Class ; @@ -284982,7 +296222,6 @@ OMIM:610904 a owl:Class ; IAO:0000142 PMID:10419521, PMID:11278625, PMID:15755741 ; - oboInOwl:hasDbXref UMLS:C1822797 ; oboInOwl:hasExactSynonym "SNF8", "ell-associated protein, 30-kd", "snf8 subunit of escrit-ii", @@ -284990,7 +296229,9 @@ OMIM:610904 a owl:Class ; "vacuolar protein sorting 22, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11267 ; - skos:exactMatch HGNC_symbol:SNF8 ; + skos:exactMatch UMLS:C1822797, + HGNC:17028, + HGNC_symbol:SNF8 ; biolink:category biolink:Gene . OMIM:610905 a owl:Class ; @@ -285002,27 +296243,29 @@ OMIM:610907 a owl:Class ; IAO:0000142 PMID:11278625, PMID:15511219, PMID:15755741 ; - oboInOwl:hasDbXref UMLS:C1823637 ; oboInOwl:hasExactSynonym "VPS25", "ell-associated protein, 20-kd", "vacuolar protein sorting 25 homolog", "vacuolar protein sorting 25, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84313 ; - skos:exactMatch HGNC_symbol:VPS25 ; + skos:exactMatch UMLS:C1823637, + HGNC:28122, + HGNC_symbol:VPS25 ; biolink:category biolink:Gene . OMIM:610909 a owl:Class ; rdfs:label "MCMBP" ; IAO:0000142 PMID:17296731, PMID:33087936 ; - oboInOwl:hasDbXref UMLS:C1538419 ; oboInOwl:hasExactSynonym "MCMBP", "chromosome 10 open reading frame 119", "minichromosome maintenance complex-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79892 ; - skos:exactMatch HGNC_symbol:MCMBP ; + skos:exactMatch UMLS:C1538419, + HGNC:25782, + HGNC_symbol:MCMBP ; biolink:category biolink:Gene . OMIM:610910 a owl:Class ; @@ -285037,11 +296280,11 @@ OMIM:610910 a owl:Class ; PMID:7435514, PMID:8171324, PMID:8202532 ; - oboInOwl:hasDbXref UMLS:C1970472 ; oboInOwl:hasExactSynonym "pap, acquired", "pulmonary alveolar lipoproteinosis, acquired", "pulmonary alveolar proteinosis, acquired", "pulmonary alveolar proteinosis, autoimmune" ; + skos:exactMatch UMLS:C1970472 ; biolink:category biolink:Disease . OMIM:610911 a owl:Class ; @@ -285055,14 +296298,15 @@ OMIM:610911 a owl:Class ; PMID:9786927 ; RO:0002525 CHR:9606chr3q13.32-q13.33 ; RO:0003303 OMIM:100300 ; - oboInOwl:hasDbXref UMLS:C1970471 ; oboInOwl:hasExactSynonym "ARHGAP31", "cdc42 gtpase-activating protein", "kiaa1204", "rho gtpase-activating protein 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57514 ; - skos:exactMatch HGNC_symbol:ARHGAP31 ; + skos:exactMatch UMLS:C1970471, + HGNC:29216, + HGNC_symbol:ARHGAP31 ; biolink:category biolink:Gene . OMIM:610912 a owl:Class ; @@ -285073,12 +296317,13 @@ OMIM:610912 a owl:Class ; PMID:27412008 ; RO:0002525 CHR:9606chr4q13.3 ; RO:0003303 OMIM:617607 ; - oboInOwl:hasDbXref UMLS:C1823188 ; oboInOwl:hasExactSynonym "AMTN", "amelotin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401138 ; - skos:exactMatch HGNC_symbol:AMTN ; + skos:exactMatch UMLS:C1823188, + HGNC:33188, + HGNC_symbol:AMTN ; biolink:category biolink:Gene . OMIM:610914 a owl:Class ; @@ -285086,13 +296331,14 @@ OMIM:610914 a owl:Class ; IAO:0000142 PMID:11360993, PMID:15882838, PMID:23939472 ; - oboInOwl:hasDbXref UMLS:C1970469 ; oboInOwl:hasExactSynonym "ENOX1", "cnox", "ecto-nox disulfide-thiol exchanger 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55068 ; - skos:exactMatch HGNC_symbol:ENOX1 ; + skos:exactMatch UMLS:C1970469, + HGNC:25474, + HGNC_symbol:ENOX1 ; biolink:category biolink:Gene . OMIM:610916 a owl:Class ; @@ -285109,7 +296355,6 @@ OMIM:610916 a owl:Class ; PMID:27306184 ; RO:0002525 CHR:9606chr5p15.31 ; RO:0003303 OMIM:611091 ; - oboInOwl:hasDbXref UMLS:C1538489 ; oboInOwl:hasExactSynonym "NSUN2", "myc-induced sun domain-containing protein", "nol1/nop2/sun domain family, member 2", @@ -285118,7 +296363,9 @@ OMIM:610916 a owl:Class ; "trm4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54888 ; - skos:exactMatch HGNC_symbol:NSUN2 ; + skos:exactMatch UMLS:C1538489, + HGNC:25994, + HGNC_symbol:NSUN2 ; biolink:category biolink:Gene . OMIM:610917 a owl:Class ; @@ -285126,75 +296373,81 @@ OMIM:610917 a owl:Class ; IAO:0000142 PMID:12446704, PMID:12684051, PMID:16138900 ; - oboInOwl:hasDbXref UMLS:C1424349 ; oboInOwl:hasExactSynonym "RAB34", "rah, mouse, homolog of", "ras-associated protein 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83871 ; - skos:exactMatch HGNC_symbol:RAB34 ; + skos:exactMatch UMLS:C1424349, + HGNC:16519, + HGNC_symbol:RAB34 ; biolink:category biolink:Gene . OMIM:610918 a owl:Class ; rdfs:label "SELENOM" ; IAO:0000142 PMID:11839807, PMID:23880772 ; - oboInOwl:hasDbXref UMLS:C1970457 ; oboInOwl:hasExactSynonym "SELENOM", "selenoprotein m", "selm", "sepm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140606 ; - skos:exactMatch HGNC_symbol:SELENOM ; + skos:exactMatch UMLS:C1970457, + HGNC:30397, + HGNC_symbol:SELENOM ; biolink:category biolink:Gene . OMIM:610919 a owl:Class ; rdfs:label "GTPBP5" ; IAO:0000142 PMID:17054726 ; - oboInOwl:hasDbXref UMLS:C1424114 ; oboInOwl:hasExactSynonym "GTPBP5", "gtp-binding protein 5", "obgh1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26164 ; - skos:exactMatch HGNC_symbol:MTG2 ; + skos:exactMatch UMLS:C1424114, + HGNC:16239, + HGNC_symbol:MTG2 ; biolink:category biolink:Gene . OMIM:610920 a owl:Class ; rdfs:label "GTPBP10" ; IAO:0000142 PMID:17054726 ; - oboInOwl:hasDbXref UMLS:C1825431 ; oboInOwl:hasExactSynonym "GTPBP10", "gtp-binding protein 10", "obgh2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85865 ; - skos:exactMatch HGNC_symbol:GTPBP10 ; + skos:exactMatch UMLS:C1825431, + HGNC:25106, + HGNC_symbol:GTPBP10 ; biolink:category biolink:Gene . OMIM:610922 a owl:Class ; rdfs:label "NPAP1" ; IAO:0000142 PMID:10783265, PMID:17337158 ; - oboInOwl:hasDbXref UMLS:C1412887 ; oboInOwl:hasExactSynonym "NPAP1", "chromosome 15 open reading frame 2", "nuclear pore associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23742 ; - skos:exactMatch HGNC_symbol:NPAP1 ; + skos:exactMatch UMLS:C1412887, + HGNC:1190, + HGNC_symbol:NPAP1 ; biolink:category biolink:Gene . OMIM:610923 a owl:Class ; rdfs:label "SLC35B4" ; IAO:0000142 PMID:15911612 ; - oboInOwl:hasDbXref UMLS:C1427017 ; oboInOwl:hasExactSynonym "SLC35B4", "solute carrier family 35 (udp-xylose/udp-n-acetylglucosamine transporter), member b4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84912 ; - skos:exactMatch HGNC_symbol:SLC35B4 ; + skos:exactMatch UMLS:C1427017, + HGNC:20584, + HGNC_symbol:SLC35B4 ; biolink:category biolink:Gene . OMIM:610924 a owl:Class ; @@ -285213,7 +296466,6 @@ OMIM:610924 a owl:Class ; PMID:9195957 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:615895 ; - oboInOwl:hasDbXref UMLS:C1826773 ; oboInOwl:hasExactSynonym "RBCK1", "heme-oxidized irp2 ubiquitin ligase 1", "hepatitis B virus x-associated protein 3", @@ -285222,7 +296474,9 @@ OMIM:610924 a owl:Class ; "rbcc protein interacting with pkc 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10616 ; - skos:exactMatch HGNC_symbol:RBCK1 ; + skos:exactMatch UMLS:C1826773, + HGNC:15864, + HGNC_symbol:RBCK1 ; biolink:category biolink:Gene . OMIM:610925 a owl:Class ; @@ -285234,14 +296488,15 @@ OMIM:610925 a owl:Class ; PMID:32076265 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:616445 ; - oboInOwl:hasDbXref UMLS:C1425470, - UMLS:C4225324 ; oboInOwl:hasExactSynonym "IL17RC", "interleukin 17 receptor c", "interleukin 17 receptor-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84818 ; - skos:exactMatch HGNC_symbol:IL17RC ; + skos:exactMatch UMLS:C1425470, + UMLS:C4225324, + HGNC:18358, + HGNC_symbol:IL17RC ; biolink:category biolink:Gene . OMIM:610928 a owl:Class ; @@ -285254,40 +296509,43 @@ OMIM:610928 a owl:Class ; PMID:8636240 ; RO:0002525 CHR:9606chr8q11.23 ; RO:0003303 OMIM:613674 ; - oboInOwl:hasDbXref UMLS:C1425328 ; oboInOwl:hasExactSynonym "SOX17", "sry-box 17", "sry-related hmg-box gene 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64321 ; - skos:exactMatch HGNC_symbol:SOX17 ; + skos:exactMatch UMLS:C1425328, + HGNC:18122, + HGNC_symbol:SOX17 ; biolink:category biolink:Gene . OMIM:610929 a owl:Class ; rdfs:label "ORAI2" ; IAO:0000142 PMID:16582901, PMID:16807233 ; - oboInOwl:hasDbXref UMLS:C1823406 ; oboInOwl:hasExactSynonym "ORAI2", "chromosome 7 open reading frame 19", "orai calcium release-activated calcium modulator 2", "transmembrane protein 142b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80228 ; - skos:exactMatch HGNC_symbol:ORAI2 ; + skos:exactMatch UMLS:C1823406, + HGNC:21667, + HGNC_symbol:ORAI2 ; biolink:category biolink:Gene . OMIM:610930 a owl:Class ; rdfs:label "ORAI3" ; IAO:0000142 PMID:16582901, PMID:16807233 ; - oboInOwl:hasDbXref UMLS:C1823407 ; oboInOwl:hasExactSynonym "ORAI3", "orai calcium release-activated calcium modulator 3", "transmembrane protein 142c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93129 ; - skos:exactMatch HGNC_symbol:ORAI3 ; + skos:exactMatch UMLS:C1823407, + HGNC:28185, + HGNC_symbol:ORAI3 ; biolink:category biolink:Gene . OMIM:610931 a owl:Class ; @@ -285297,13 +296555,14 @@ OMIM:610931 a owl:Class ; PMID:20660741 ; RO:0002525 CHR:9606chr8q24.22 ; RO:0003303 OMIM:608175 ; - oboInOwl:hasDbXref UMLS:C1823945 ; oboInOwl:hasExactSynonym "ZFAT1", "zinc finger gene 1n autoimmune thyroid disease 1", "zinc finger protein 406" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57623 ; - skos:exactMatch HGNC_symbol:ZFAT ; + skos:exactMatch UMLS:C1823945, + HGNC:19899, + HGNC_symbol:ZFAT ; biolink:category biolink:Gene . OMIM:610932 a owl:Class ; @@ -285312,7 +296571,6 @@ OMIM:610932 a owl:Class ; PMID:17360616, PMID:19783987, PMID:7507208 ; - oboInOwl:hasDbXref UMLS:C1823556 ; oboInOwl:hasExactSynonym "TWF1", "a6 protein tyrosine kinase", "protein tyrosine kinase 9", @@ -285320,7 +296578,9 @@ OMIM:610932 a owl:Class ; "twinfilin, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5756 ; - skos:exactMatch HGNC_symbol:TWF1 ; + skos:exactMatch UMLS:C1823556, + HGNC:9620, + HGNC_symbol:TWF1 ; biolink:category biolink:Gene . OMIM:610933 a owl:Class ; @@ -285336,14 +296596,15 @@ OMIM:610933 a owl:Class ; PMID:3022865 ; RO:0002525 CHR:9606chr9q33.3-q34.11 ; RO:0003303 OMIM:614436 ; - oboInOwl:hasDbXref UMLS:C1428449 ; oboInOwl:hasExactSynonym "LRSAM1", "leucine-rich repeat- and sterile alpha motif-containing 1", "ring zinc finger and leucine-rich repeat-containing protein", "tsg101-associated ligase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90678 ; - skos:exactMatch HGNC_symbol:LRSAM1 ; + skos:exactMatch UMLS:C1428449, + HGNC:25135, + HGNC_symbol:LRSAM1 ; biolink:category biolink:Gene . OMIM:610934 a owl:Class ; @@ -285357,21 +296618,21 @@ OMIM:610934 a owl:Class ; PMID:27412763 ; RO:0002525 CHR:9606chr7q35 ; RO:0003303 OMIM:611548 ; - oboInOwl:hasDbXref UMLS:C1826445, - UMLS:C1969060 ; oboInOwl:hasExactSynonym "NOBOX", "newborn ovary homeobox, mouse, homolog of", "nobox oogenesis homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135935 ; - skos:exactMatch HGNC_symbol:NOBOX ; + skos:exactMatch UMLS:C1826445, + UMLS:C1969060, + HGNC:22448, + HGNC_symbol:NOBOX ; biolink:category biolink:Gene . OMIM:610935 a owl:Class ; rdfs:label "ZACN" ; IAO:0000142 PMID:12381728, PMID:16083862 ; - oboInOwl:hasDbXref UMLS:C1825810 ; oboInOwl:hasExactSynonym "ZACN", "l2", "ligand-gated ion channel, zinc-activated, 1", @@ -285379,7 +296640,9 @@ OMIM:610935 a owl:Class ; "zn(2+)-activated channel" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353174 ; - skos:exactMatch HGNC_symbol:ZACN ; + skos:exactMatch UMLS:C1825810, + HGNC:29504, + HGNC_symbol:ZACN ; biolink:category biolink:Gene . OMIM:610936 a owl:Class ; @@ -285391,16 +296654,17 @@ OMIM:610936 a owl:Class ; PMID:3651428 ; RO:0002525 CHR:9606chr9q21.2 ; RO:0003303 OMIM:616038 ; - oboInOwl:hasDbXref UMLS:C1426033, - UMLS:C1970253, - UMLS:C4015019 ; oboInOwl:hasExactSynonym "PSAT1", "endometrial progesterone-induced protein", "phosphoserine aminotransferase 1", "psat" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29968 ; - skos:exactMatch HGNC_symbol:PSAT1 ; + skos:exactMatch UMLS:C1426033, + UMLS:C1970253, + UMLS:C4015019, + HGNC:19129, + HGNC_symbol:PSAT1 ; biolink:category biolink:Gene . OMIM:610937 a owl:Class ; @@ -285416,66 +296680,70 @@ OMIM:610937 a owl:Class ; PMID:26071364 ; RO:0002525 CHR:9606chr16q12.2 ; RO:0003303 OMIM:611561 ; - oboInOwl:hasDbXref UMLS:C1969052, - UMLS:C1969053, - UMLS:C2242767, - UMLS:C4017235, - UMLS:C5436841 ; oboInOwl:hasExactSynonym "RPGRIP1L", "kiaa1005", "nephrocystin 8", "rpgrip1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23322 ; - skos:exactMatch HGNC_symbol:RPGRIP1L ; + skos:exactMatch UMLS:C1969052, + UMLS:C1969053, + UMLS:C2242767, + UMLS:C4017235, + UMLS:C5436841, + HGNC:29168, + HGNC_symbol:RPGRIP1L ; biolink:category biolink:Gene . OMIM:610938 a owl:Class ; rdfs:label "coronary heart disease, susceptibility to, 7" ; IAO:0000142 PMID:15282206 ; - oboInOwl:hasDbXref UMLS:C1970441 ; oboInOwl:hasExactSynonym "CHDS7", "coronary heart disease, susceptibility to, 7" ; + skos:exactMatch UMLS:C1970441 ; biolink:category biolink:Disease . OMIM:610939 a owl:Class ; rdfs:label "MIR192" ; IAO:0000142 PMID:15616155, PMID:17360662 ; - oboInOwl:hasDbXref UMLS:C1537825 ; oboInOwl:hasExactSynonym "MIR192", "micro RNA 192", "mirn192", "mirna192" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406967 ; - skos:exactMatch HGNC_symbol:MIR192 ; + skos:exactMatch UMLS:C1537825, + HGNC:31562, + HGNC_symbol:MIR192 ; biolink:category biolink:Gene . OMIM:610940 a owl:Class ; rdfs:label "MIR194-1" ; IAO:0000142 PMID:15616155 ; - oboInOwl:hasDbXref UMLS:C1537827 ; oboInOwl:hasExactSynonym "MIR194-1", "micro RNA 194-1", "mirn194-1", "mirna194-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406969 ; - skos:exactMatch HGNC_symbol:MIR194-1 ; + skos:exactMatch UMLS:C1537827, + HGNC:31564, + HGNC_symbol:MIR194-1 ; biolink:category biolink:Gene . OMIM:610941 a owl:Class ; rdfs:label "MIR194-2" ; IAO:0000142 PMID:15616155 ; - oboInOwl:hasDbXref UMLS:C1537828 ; oboInOwl:hasExactSynonym "MIR194-2", "micro RNA 194-2", "mirn194-2", "mirna194-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406970 ; - skos:exactMatch HGNC_symbol:MIR194-2 ; + skos:exactMatch UMLS:C1537828, + HGNC:31565, + HGNC_symbol:MIR194-2 ; biolink:category biolink:Gene . OMIM:610942 a owl:Class ; @@ -285486,41 +296754,44 @@ OMIM:610942 a owl:Class ; PMID:26056285 ; RO:0002525 CHR:9606chr9q21.12 ; RO:0003303 OMIM:616722 ; - oboInOwl:hasDbXref UMLS:C1537842, - UMLS:C4225493 ; oboInOwl:hasExactSynonym "MIR204", "micro RNA 204", "mirn204", "mirna204" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406987 ; - skos:exactMatch HGNC_symbol:MIR204 ; + skos:exactMatch UMLS:C1537842, + UMLS:C4225493, + HGNC:31582, + HGNC_symbol:MIR204 ; biolink:category biolink:Gene . OMIM:610943 a owl:Class ; rdfs:label "MIR215" ; IAO:0000142 PMID:15616155 ; - oboInOwl:hasDbXref UMLS:C1537851 ; oboInOwl:hasExactSynonym "MIR215", "micro RNA 215", "mirn215", "mirna215" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406997 ; - skos:exactMatch HGNC_symbol:MIR215 ; + skos:exactMatch UMLS:C1537851, + HGNC:31592, + HGNC_symbol:MIR215 ; biolink:category biolink:Gene . OMIM:610944 a owl:Class ; rdfs:label "MIR216" ; IAO:0000142 PMID:15616155 ; - oboInOwl:hasDbXref UMLS:C1537852 ; oboInOwl:hasExactSynonym "MIR216", "micro RNA 216", "mirn216", "mirna216" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406998 ; - skos:exactMatch HGNC_symbol:MIR216A ; + skos:exactMatch UMLS:C1537852, + HGNC:31593, + HGNC_symbol:MIR216A ; biolink:category biolink:Gene . OMIM:610945 a owl:Class ; @@ -285528,14 +296799,15 @@ OMIM:610945 a owl:Class ; IAO:0000142 PMID:15616155, PMID:17943132, PMID:18806776 ; - oboInOwl:hasDbXref UMLS:C1537863 ; oboInOwl:hasExactSynonym "MIR296", "micro RNA 296", "mirn296", "mirna296" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407022 ; - skos:exactMatch HGNC_symbol:MIR296 ; + skos:exactMatch UMLS:C1537863, + HGNC:31617, + HGNC_symbol:MIR296 ; biolink:category biolink:Gene . OMIM:610946 a owl:Class ; @@ -285545,14 +296817,15 @@ OMIM:610946 a owl:Class ; PMID:18347091, PMID:22000014, PMID:25743594 ; - oboInOwl:hasDbXref UMLS:C1537784 ; oboInOwl:hasExactSynonym "MIR133B", "micro RNA 133b", "mirn133b", "mirna133b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442890 ; - skos:exactMatch HGNC_symbol:MIR133B ; + skos:exactMatch UMLS:C1537784, + HGNC:31759, + HGNC_symbol:MIR133B ; biolink:category biolink:Gene . OMIM:610949 a owl:Class ; @@ -285563,24 +296836,26 @@ OMIM:610949 a owl:Class ; PMID:21835308 ; RO:0002525 CHR:9606chr1q32.2 ; RO:0003303 OMIM:614229 ; - oboInOwl:hasDbXref UMLS:C1427944 ; oboInOwl:hasExactSynonym "SYT14", "synaptotagmin 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255928 ; - skos:exactMatch HGNC_symbol:SYT14 ; + skos:exactMatch UMLS:C1427944, + HGNC:23143, + HGNC_symbol:SYT14 ; biolink:category biolink:Gene . OMIM:610950 a owl:Class ; rdfs:label "SYT16" ; IAO:0000142 PMID:12801916 ; - oboInOwl:hasDbXref UMLS:C1823166 ; oboInOwl:hasExactSynonym "SYT16", "synaptotagmin 14-related protein", "synaptotagmin 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83851 ; - skos:exactMatch HGNC_symbol:SYT16 ; + skos:exactMatch UMLS:C1823166, + HGNC:23142, + HGNC_symbol:SYT16 ; biolink:category biolink:Gene . OMIM:610951 a owl:Class ; @@ -285597,25 +296872,26 @@ OMIM:610951 a owl:Class ; PMID:19277732, PMID:27211611, PMID:31597037 ; - oboInOwl:hasDbXref UMLS:C1838571, - ORPHA:168491, - ORPHA:228366 ; oboInOwl:hasExactSynonym "CLN7", "ceroid lipofuscinosis, neuronal, 7" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C1838571, + ORPHA:168491, + ORPHA:228366 ; biolink:category biolink:Disease . OMIM:610952 a owl:Class ; rdfs:label "CRNKL1" ; IAO:0000142 PMID:11342225, PMID:12084575 ; - oboInOwl:hasDbXref UMLS:C1423711 ; oboInOwl:hasExactSynonym "CRNKL1", "crooked neck pre-mrna splicing factor-like 1", "crooked neck, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51340 ; - skos:exactMatch HGNC_symbol:CRNKL1 ; + skos:exactMatch UMLS:C1423711, + HGNC:15762, + HGNC_symbol:CRNKL1 ; biolink:category biolink:Gene . OMIM:610953 a owl:Class ; @@ -285623,13 +296899,14 @@ OMIM:610953 a owl:Class ; IAO:0000142 PMID:16522649, PMID:17172855, PMID:23657261 ; - oboInOwl:hasDbXref UMLS:C1826584 ; oboInOwl:hasExactSynonym "PIF1", "pif", "pif1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80119 ; - skos:exactMatch HGNC_symbol:PIF1 ; + skos:exactMatch UMLS:C1826584, + HGNC:26220, + HGNC_symbol:PIF1 ; biolink:category biolink:Gene . OMIM:610955 a owl:Class ; @@ -285638,13 +296915,14 @@ OMIM:610955 a owl:Class ; PMID:15728249, PMID:16880271, PMID:17287728 ; - oboInOwl:hasDbXref UMLS:C1426550 ; oboInOwl:hasExactSynonym "TRAPPC3", "bet3, yeast, homolog of", "trafficking protein particle complex, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27095 ; - skos:exactMatch HGNC_symbol:TRAPPC3 ; + skos:exactMatch UMLS:C1426550, + HGNC:19942, + HGNC_symbol:TRAPPC3 ; biolink:category biolink:Gene . OMIM:610956 a owl:Class ; @@ -285657,14 +296935,15 @@ OMIM:610956 a owl:Class ; PMID:21815884 ; RO:0002525 CHR:9606chr1q25.1 ; RO:0003303 OMIM:611105 ; - oboInOwl:hasDbXref UMLS:C1824885 ; oboInOwl:hasExactSynonym "DARS2", "aspartyl-trna synthetase 2", "aspartyl-trna synthetase, mitochondrial", "mt-asprs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55157 ; - skos:exactMatch HGNC_symbol:DARS2 ; + skos:exactMatch UMLS:C1824885, + HGNC:25538, + HGNC_symbol:DARS2 ; biolink:category biolink:Gene . OMIM:610957 a owl:Class ; @@ -285679,22 +296958,22 @@ OMIM:610957 a owl:Class ; PMID:24430573 ; RO:0002525 CHR:9606chr12p11.21 ; RO:0003303 OMIM:613561 ; - oboInOwl:hasDbXref UMLS:C1823881, - UMLS:C3150802 ; oboInOwl:hasExactSynonym "YARS2", "mt-tyrrs", "tyrosyl-trna synthetase 2", "tyrosyl-trna synthetase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51067 ; - skos:exactMatch HGNC_symbol:YARS2 ; + skos:exactMatch UMLS:C1823881, + UMLS:C3150802, + HGNC:24249, + HGNC_symbol:YARS2 ; biolink:category biolink:Gene . OMIM:610958 a owl:Class ; rdfs:label "AGPAT9" ; IAO:0000142 PMID:17002884, PMID:17170135 ; - oboInOwl:hasDbXref UMLS:C1970419 ; oboInOwl:hasExactSynonym "1-acylglycerol-3-phosphate o-acyltransferase 9", "AGPAT9", "glycerol-3-phosphate acyltransferase 3", @@ -285704,46 +296983,51 @@ OMIM:610958 a owl:Class ; "lysophosphatidic acid acyltransferase, theta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84803 ; - skos:exactMatch HGNC_symbol:GPAT3 ; + skos:exactMatch UMLS:C1970419, + HGNC:28157, + HGNC_symbol:GPAT3 ; biolink:category biolink:Gene . OMIM:610959 a owl:Class ; rdfs:label "MIR376A1" ; IAO:0000142 PMID:17322061 ; - oboInOwl:hasDbXref UMLS:C1970418 ; oboInOwl:hasExactSynonym "MIR376A1", "micro RNA 376a1", "mirn376a1", "mirna376a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494325 ; - skos:exactMatch HGNC_symbol:MIR376A1 ; + skos:exactMatch UMLS:C1970418, + HGNC:31869, + HGNC_symbol:MIR376A1 ; biolink:category biolink:Gene . OMIM:610960 a owl:Class ; rdfs:label "MIR376A2" ; IAO:0000142 PMID:17322061 ; - oboInOwl:hasDbXref UMLS:C1970417 ; oboInOwl:hasExactSynonym "MIR376A2", "micro RNA 376a2", "mirn376a2", "mirna376a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:664615 ; - skos:exactMatch HGNC_symbol:MIR376A2 ; + skos:exactMatch UMLS:C1970417, + HGNC:32532, + HGNC_symbol:MIR376A2 ; biolink:category biolink:Gene . OMIM:610961 a owl:Class ; rdfs:label "MIR376B" ; IAO:0000142 PMID:17322061 ; - oboInOwl:hasDbXref UMLS:C1826016 ; oboInOwl:hasExactSynonym "MIR376B", "micro RNA 376b", "mirn376b", "mirna376b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574435 ; - skos:exactMatch HGNC_symbol:MIR376B ; + skos:exactMatch UMLS:C1826016, + HGNC:32066, + HGNC_symbol:MIR376B ; biolink:category biolink:Gene . OMIM:610962 a owl:Class ; @@ -285755,7 +297039,6 @@ OMIM:610962 a owl:Class ; PMID:16809764, PMID:17916692, PMID:21571633 ; - oboInOwl:hasDbXref UMLS:C1822788 ; oboInOwl:hasExactSynonym "SMG5", "ever shorter telomeres 1, s. cerevisiae, homolog of, B", "kiaa1089", @@ -285763,7 +297046,9 @@ OMIM:610962 a owl:Class ; "smg5, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23381 ; - skos:exactMatch HGNC_symbol:SMG5 ; + skos:exactMatch UMLS:C1822788, + HGNC:24644, + HGNC_symbol:SMG5 ; biolink:category biolink:Gene . OMIM:610963 a owl:Class ; @@ -285774,7 +297059,6 @@ OMIM:610963 a owl:Class ; PMID:15721257, PMID:17916692, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1822789 ; oboInOwl:hasExactSynonym "SMG6", "ever shorter telomeres 1, s. cerevisiae, homolog of, a", "kiaa0732", @@ -285782,7 +297066,9 @@ OMIM:610963 a owl:Class ; "smg6, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23293 ; - skos:exactMatch HGNC_symbol:SMG6 ; + skos:exactMatch UMLS:C1822789, + HGNC:17809, + HGNC_symbol:SMG6 ; biolink:category biolink:Gene . OMIM:610964 a owl:Class ; @@ -285793,7 +297079,6 @@ OMIM:610964 a owl:Class ; PMID:15721257, PMID:17916692, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1822790 ; oboInOwl:hasExactSynonym "SMG7", "ever shorter telomeres 1, s. cerevisiae, homolog of, c", "kiaa0250", @@ -285801,17 +297086,19 @@ OMIM:610964 a owl:Class ; "smg7, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9887 ; - skos:exactMatch HGNC_symbol:SMG7 ; + skos:exactMatch UMLS:C1822790, + HGNC:16792, + HGNC_symbol:SMG7 ; biolink:category biolink:Gene . OMIM:610965 a owl:Class ; rdfs:label "xfe progeroid syndrome" ; IAO:0000142 PMID:17183314, PMID:29105242 ; - oboInOwl:hasDbXref UMLS:C1970416 ; oboInOwl:hasExactSynonym "XFEPS", "xfe progeroid syndrome", "xpf-ercc1 progeroid syndrome" ; + skos:exactMatch UMLS:C1970416 ; biolink:category biolink:Disease . OMIM:610966 a owl:Class ; @@ -285833,9 +297120,6 @@ OMIM:610966 a owl:Class ; PMID:7956835 ; RO:0002525 CHR:9606chr16q12.2 ; RO:0003303 OMIM:612460 ; - oboInOwl:hasDbXref UMLS:C1970415, - UMLS:C2752001, - UMLS:C4225492 ; oboInOwl:hasExactSynonym "FTO", "alkb homolog 9", "fat mass- and obesity-associated gene", @@ -285843,20 +297127,25 @@ OMIM:610966 a owl:Class ; "fto alpha-ketoglutarate-dependent dioxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79068 ; - skos:exactMatch HGNC_symbol:FTO ; + skos:exactMatch UMLS:C1970415, + UMLS:C2752001, + UMLS:C4225492, + HGNC:24678, + HGNC_symbol:FTO ; biolink:category biolink:Gene . OMIM:610969 a owl:Class ; rdfs:label "TRAPPC1" ; IAO:0000142 PMID:10582700 ; - oboInOwl:hasDbXref UMLS:C1426510 ; oboInOwl:hasExactSynonym "TRAPPC1", "bet5, s. cerevisiae, homolog of", "melanoma ubiquitous mutated 2", "trafficking protein particle complex, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58485 ; - skos:exactMatch HGNC_symbol:TRAPPC1 ; + skos:exactMatch UMLS:C1426510, + HGNC:19894, + HGNC_symbol:TRAPPC1 ; biolink:category biolink:Gene . OMIM:610970 a owl:Class ; @@ -285866,12 +297155,13 @@ OMIM:610970 a owl:Class ; PMID:30120216 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:618331 ; - oboInOwl:hasDbXref UMLS:C1823481 ; oboInOwl:hasExactSynonym "TRAPPC2L", "trafficking protein particle complex 2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51693 ; - skos:exactMatch HGNC_symbol:TRAPPC2L ; + skos:exactMatch UMLS:C1823481, + HGNC:30887, + HGNC_symbol:TRAPPC2L ; biolink:category biolink:Gene . OMIM:610971 a owl:Class ; @@ -285880,27 +297170,29 @@ OMIM:610971 a owl:Class ; PMID:31794024 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:618741 ; - oboInOwl:hasDbXref UMLS:C1426551, - UMLS:C5394027 ; oboInOwl:hasExactSynonym "TRAPPC4", "synbindin", "trafficking protein particle complex, subunit 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51399 ; - skos:exactMatch HGNC_symbol:TRAPPC4 ; + skos:exactMatch UMLS:C1426551, + UMLS:C5394027, + HGNC:19943, + HGNC_symbol:TRAPPC4 ; biolink:category biolink:Gene . OMIM:610972 a owl:Class ; rdfs:label "AJAP1" ; IAO:0000142 PMID:14595118, PMID:17267690 ; - oboInOwl:hasDbXref UMLS:C1826621 ; oboInOwl:hasExactSynonym "AJAP1", "adherens junction-associated protein 1", "shrew1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55966 ; - skos:exactMatch HGNC_symbol:AJAP1 ; + skos:exactMatch UMLS:C1826621, + HGNC:30801, + HGNC_symbol:AJAP1 ; biolink:category biolink:Gene . OMIM:610973 a owl:Class ; @@ -285908,39 +297200,42 @@ OMIM:610973 a owl:Class ; IAO:0000142 PMID:14719143, PMID:17237226, PMID:17332497 ; - oboInOwl:hasDbXref UMLS:C1428604 ; oboInOwl:hasExactSynonym "MPP7", "membrane protein, palmitoylated 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143098 ; - skos:exactMatch HGNC_symbol:MPP7 ; + skos:exactMatch UMLS:C1428604, + HGNC:26542, + HGNC_symbol:MPP7 ; biolink:category biolink:Gene . OMIM:610974 a owl:Class ; rdfs:label "ZNF521" ; IAO:0000142 PMID:14630787, PMID:21326203 ; - oboInOwl:hasDbXref UMLS:C1428393 ; oboInOwl:hasExactSynonym "ZNF521", "early hematopoietic zinc finger", "evi3, mouse, homolog of", "zinc finger protein 521" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25925 ; - skos:exactMatch HGNC_symbol:ZNF521 ; + skos:exactMatch UMLS:C1428393, + HGNC:24605, + HGNC_symbol:ZNF521 ; biolink:category biolink:Gene . OMIM:610975 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10922053, PMID:8855241 ; - oboInOwl:hasDbXref UMLS:C1970412 ; oboInOwl:hasExactSynonym "og9", "sebox", "skin-, embryo-, brain-, and oocyte-specific homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645832 ; - skos:exactMatch HGNC_symbol:SEBOX ; + skos:exactMatch UMLS:C1970412, + HGNC:32942, + HGNC_symbol:SEBOX ; biolink:category biolink:Gene . OMIM:610976 a owl:Class ; @@ -285948,26 +297243,28 @@ OMIM:610976 a owl:Class ; IAO:0000142 PMID:12683974, PMID:16571802, PMID:18403710 ; - oboInOwl:hasDbXref UMLS:C1970411 ; oboInOwl:hasExactSynonym "APOBEC3H", "apobec-related protein 10", "apolipoprotein B mrna editing enzyme, catalytic polypeptide-like 3h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:164668 ; - skos:exactMatch HGNC_symbol:APOBEC3H ; + skos:exactMatch UMLS:C1970411, + HGNC:24100, + HGNC_symbol:APOBEC3H ; biolink:category biolink:Gene . OMIM:610977 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:17362938, PMID:8353488 ; - oboInOwl:hasDbXref UMLS:C1970410 ; oboInOwl:hasExactSynonym "tetracycline transporter-like protein", "tetran", "tpo1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10227 ; - skos:exactMatch HGNC_symbol:MFSD10 ; + skos:exactMatch UMLS:C1970410, + HGNC:16894, + HGNC_symbol:MFSD10 ; biolink:category biolink:Gene . OMIM:610978 a owl:Class ; @@ -285980,10 +297277,10 @@ OMIM:610978 a owl:Class ; PMID:19336474, PMID:24714694, PMID:9565498 ; - oboInOwl:hasDbXref UMLS:C1970269 ; oboInOwl:hasExactSynonym "CAHTP", "brain-lung-thyroid syndrome", "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" ; + skos:exactMatch UMLS:C1970269 ; biolink:category biolink:Disease . OMIM:610979 a owl:Class ; @@ -285993,7 +297290,6 @@ OMIM:610979 a owl:Class ; PMID:17702752, PMID:18981179, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1825477 ; oboInOwl:hasExactSynonym "PPIP5K1", "diphosphoinositol pentakisphosphate kinase 1", "histidine acid phosphatase domain-containing protein 2a", @@ -286003,30 +297299,34 @@ OMIM:610979 a owl:Class ; "vip1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9677 ; - skos:exactMatch HGNC_symbol:PPIP5K1 ; + skos:exactMatch UMLS:C1825477, + HGNC:29023, + HGNC_symbol:PPIP5K1 ; biolink:category biolink:Gene . OMIM:610980 a owl:Class ; rdfs:label "KCNQ1DN" ; IAO:0000142 PMID:11056398 ; - oboInOwl:hasDbXref UMLS:C1537436 ; oboInOwl:hasExactSynonym "KCNQ1DN", "kcnq1 downstream neighbor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55539 ; - skos:exactMatch HGNC_symbol:KCNQ1DN ; + skos:exactMatch UMLS:C1537436, + HGNC:13335, + HGNC_symbol:KCNQ1DN ; biolink:category biolink:Gene . OMIM:610981 a owl:Class ; rdfs:label "WBP2NL" ; IAO:0000142 PMID:17289678 ; - oboInOwl:hasDbXref UMLS:C1823657 ; oboInOwl:hasExactSynonym "WBP2NL", "postacrosomal sheath ww domain-binding protein", "wwbp2 n-terminal-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:164684 ; - skos:exactMatch HGNC_symbol:WBP2NL ; + skos:exactMatch UMLS:C1823657, + HGNC:28389, + HGNC_symbol:WBP2NL ; biolink:category biolink:Gene . OMIM:610982 a owl:Class ; @@ -286040,20 +297340,20 @@ OMIM:610982 a owl:Class ; PMID:6054293 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:613237 ; - oboInOwl:hasDbXref UMLS:C1539048 ; oboInOwl:hasExactSynonym "INF2", "chromosome 14 open reading frame 173", "formin, inverted, 2", "inverted formin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64423 ; - skos:exactMatch HGNC_symbol:INF2 ; + skos:exactMatch UMLS:C1539048, + HGNC:23791, + HGNC_symbol:INF2 ; biolink:category biolink:Gene . OMIM:610983 a owl:Class ; rdfs:label "MIR376C" ; IAO:0000142 PMID:17322061 ; - oboInOwl:hasDbXref UMLS:C1537889 ; oboInOwl:hasExactSynonym "MIR376C", "micro RNA 368", "micro RNA 376c", @@ -286062,7 +297362,9 @@ OMIM:610983 a owl:Class ; "mirna376c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442913 ; - skos:exactMatch HGNC_symbol:MIR376C ; + skos:exactMatch UMLS:C1537889, + HGNC:31782, + HGNC_symbol:MIR376C ; biolink:category biolink:Gene . OMIM:610984 a owl:Class ; @@ -286076,18 +297378,17 @@ OMIM:610984 a owl:Class ; PMID:7922290, PMID:849647, PMID:8613545 ; - oboInOwl:hasDbXref UMLS:C3463916 ; oboInOwl:hasExactSynonym "CFID", "c3 glomerulopathy 2", "c3 inactivator deficiency", "complement component 3 inactivator deficiency", "complement factor 1 deficiency" ; + skos:exactMatch UMLS:C3463916 ; biolink:category biolink:Disease . OMIM:610985 a owl:Class ; rdfs:label "UEVLD" ; IAO:0000142 PMID:12427560 ; - oboInOwl:hasDbXref UMLS:C1823589 ; oboInOwl:hasExactSynonym "UEVLD", "attp", "ubiquitin e2 variant and lactate/malate dehydrogenase domains-containing protein", @@ -286095,7 +297396,9 @@ OMIM:610985 a owl:Class ; "uev2 and ldh domains-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55293 ; - skos:exactMatch HGNC_symbol:UEVLD ; + skos:exactMatch UMLS:C1823589, + HGNC:30866, + HGNC_symbol:UEVLD ; biolink:category biolink:Gene . OMIM:610986 a owl:Class ; @@ -286107,18 +297410,18 @@ OMIM:610986 a owl:Class ; PMID:8255649 ; RO:0002525 CHR:9606chr15q26.3 ; RO:0003303 OMIM:615198 ; - oboInOwl:hasDbXref UMLS:C1425644 ; oboInOwl:hasExactSynonym "LRRK1", "leucine-rich repeat kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79705 ; - skos:exactMatch HGNC_symbol:LRRK1 ; + skos:exactMatch UMLS:C1425644, + HGNC:18608, + HGNC_symbol:LRRK1 ; biolink:category biolink:Gene . OMIM:610987 a owl:Class ; rdfs:label "ASAH2B" ; IAO:0000142 PMID:17334805 ; - oboInOwl:hasDbXref UMLS:C1540202 ; oboInOwl:hasExactSynonym "ASAH2B", "asah2-like protein", "ceramidase, nonlysosomal, c", @@ -286127,7 +297430,9 @@ OMIM:610987 a owl:Class ; "nonlysosomal ceramidase c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653308 ; - skos:exactMatch HGNC_symbol:ASAH2B ; + skos:exactMatch UMLS:C1540202, + HGNC:23456, + HGNC_symbol:ASAH2B ; biolink:category biolink:Gene . OMIM:610988 a owl:Class ; @@ -286137,11 +297442,11 @@ OMIM:610988 a owl:Class ; PMID:14735151, PMID:15052269, PMID:17353895 ; - oboInOwl:hasDbXref UMLS:C1970254, - UMLS:C2750103 ; oboInOwl:hasExactSynonym "LPRS4", "leprosy, early-onset, susceptibility to", "leprosy, susceptibility to, 4" ; + skos:exactMatch UMLS:C1970254, + UMLS:C2750103 ; biolink:category biolink:Disease . OMIM:610989 a owl:Class ; @@ -286150,7 +297455,6 @@ OMIM:610989 a owl:Class ; PMID:12393858, PMID:17158803, PMID:18264097 ; - oboInOwl:hasDbXref UMLS:C1425151 ; oboInOwl:hasExactSynonym "LMTK2", "brain-enriched kinase", "kiaa1079", @@ -286158,14 +297462,15 @@ OMIM:610989 a owl:Class ; "lemur tyrosine kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22853 ; - skos:exactMatch HGNC_symbol:LMTK2 ; + skos:exactMatch UMLS:C1425151, + HGNC:17880, + HGNC_symbol:LMTK2 ; biolink:category biolink:Gene . OMIM:610990 a owl:Class ; rdfs:label "PPP1R18" ; IAO:0000142 PMID:11853319, PMID:17374523 ; - oboInOwl:hasDbXref UMLS:C1428856 ; oboInOwl:hasExactSynonym "PPP1R18", "kiaa1949 gene", "phostensin", @@ -286173,7 +297478,9 @@ OMIM:610990 a owl:Class ; "protein phosphatase 1 regulatory subunit 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170954 ; - skos:exactMatch HGNC_symbol:PPP1R18 ; + skos:exactMatch UMLS:C1428856, + HGNC:29413, + HGNC_symbol:PPP1R18 ; biolink:category biolink:Gene . OMIM:610991 a owl:Class ; @@ -286186,36 +297493,38 @@ OMIM:610991 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:612921 ; - oboInOwl:hasDbXref UMLS:C1826505 ; oboInOwl:hasExactSynonym "OBSL1", "kiaa0657", "obscurin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23363 ; - skos:exactMatch HGNC_symbol:OBSL1 ; + skos:exactMatch UMLS:C1826505, + HGNC:29092, + HGNC_symbol:OBSL1 ; biolink:category biolink:Gene . OMIM:610992 a owl:Class ; rdfs:label "phosphoserine aminotransferase deficiency" ; IAO:0000142 PMID:17436247, PMID:29269105 ; - oboInOwl:hasDbXref UMLS:C1970253, - ORPHA:284417 ; oboInOwl:hasExactSynonym "PSATD", "phosphoserine aminotransferase deficiency", "psat deficiency" ; + skos:exactMatch UMLS:C1970253, + ORPHA:284417 ; biolink:category biolink:Disease . OMIM:610993 a owl:Class ; rdfs:label "USP44" ; IAO:0000142 PMID:14715245, PMID:17443180 ; - oboInOwl:hasDbXref UMLS:C1426652 ; oboInOwl:hasExactSynonym "USP44", "ubiquitin-specific protease 44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84101 ; - skos:exactMatch HGNC_symbol:USP44 ; + skos:exactMatch UMLS:C1426652, + HGNC:20064, + HGNC_symbol:USP44 ; biolink:category biolink:Gene . OMIM:610994 a owl:Class ; @@ -286223,52 +297532,56 @@ OMIM:610994 a owl:Class ; IAO:0000142 PMID:11076860, PMID:11280764, PMID:31604315 ; - oboInOwl:hasDbXref UMLS:C1970252 ; oboInOwl:hasExactSynonym "TMEM189", "kua", "kua/uev1 spliced read-through transcript", "transmembrane protein 189" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387521 ; - skos:exactMatch HGNC_symbol:PEDS1 ; + skos:exactMatch UMLS:C1970252, + HGNC:16735, + HGNC_symbol:PEDS1 ; biolink:category biolink:Gene . OMIM:610995 a owl:Class ; rdfs:label "PCYOX1" ; IAO:0000142 PMID:10048485, PMID:10585463 ; - oboInOwl:hasDbXref UMLS:C1427018 ; oboInOwl:hasExactSynonym "PCYOX1", "kiaa0908", "prenylcysteine lyase", "prenylcysteine oxidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51449 ; - skos:exactMatch HGNC_symbol:PCYOX1 ; + skos:exactMatch UMLS:C1427018, + HGNC:20588, + HGNC_symbol:PCYOX1 ; biolink:category biolink:Gene . OMIM:610996 a owl:Class ; rdfs:label "DTD1" ; IAO:0000142 PMID:12392168 ; - oboInOwl:hasDbXref UMLS:C1970251 ; oboInOwl:hasExactSynonym "DTD1", "chromosome 20 open reading frame 88", "d-aminoacyl-trna deacylase 1", "d-tyrosyl-trna deacylase 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92675 ; - skos:exactMatch HGNC_symbol:DTD1 ; + skos:exactMatch UMLS:C1970251, + HGNC:16219, + HGNC_symbol:DTD1 ; biolink:category biolink:Gene . OMIM:610998 a owl:Class ; rdfs:label "METRN" ; IAO:0000142 PMID:15085178 ; - oboInOwl:hasDbXref UMLS:C1537685 ; oboInOwl:hasExactSynonym "METRN", "meteorin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79006 ; - skos:exactMatch HGNC_symbol:METRN ; + skos:exactMatch UMLS:C1537685, + HGNC:14151, + HGNC_symbol:METRN ; biolink:category biolink:Gene . OMIM:610999 a owl:Class ; @@ -286277,53 +297590,57 @@ OMIM:610999 a owl:Class ; PMID:14966270, PMID:17192267, PMID:23103869 ; - oboInOwl:hasDbXref UMLS:C1426501 ; oboInOwl:hasExactSynonym "EPC1", "enhancer of polycomb homolog 1", "enhancer of polycomb, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80314 ; - skos:exactMatch HGNC_symbol:EPC1 ; + skos:exactMatch UMLS:C1426501, + HGNC:19876, + HGNC_symbol:EPC1 ; biolink:category biolink:Gene . OMIM:611000 a owl:Class ; rdfs:label "EPC2" ; IAO:0000142 PMID:14966270, PMID:27626380 ; - oboInOwl:hasDbXref UMLS:C1539360 ; oboInOwl:hasExactSynonym "EPC2", "enhancer of polycomb homolog 2", "enhancer of polycomb, drosophila, homolog of, 2", "epc-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26122 ; - skos:exactMatch HGNC_symbol:EPC2 ; + skos:exactMatch UMLS:C1539360, + HGNC:24543, + HGNC_symbol:EPC2 ; biolink:category biolink:Gene . OMIM:611001 a owl:Class ; rdfs:label "MEAF6" ; IAO:0000142 PMID:14966270 ; - oboInOwl:hasDbXref UMLS:C1823768 ; oboInOwl:hasExactSynonym "MEAF6", "chromosome 1 open reading frame 149", "eaf6, s. cerevisiae, homolog of", "myst/esa1-associated factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64769 ; - skos:exactMatch HGNC_symbol:MEAF6 ; + skos:exactMatch UMLS:C1823768, + HGNC:25674, + HGNC_symbol:MEAF6 ; biolink:category biolink:Gene . OMIM:611002 a owl:Class ; rdfs:label "TMEM204" ; IAO:0000142 PMID:15206924 ; - oboInOwl:hasDbXref UMLS:C1422452 ; oboInOwl:hasExactSynonym "TMEM204", "chromosome 16 open reading frame 30", "claudin-like protein, 24-kd", "transmembrane protein 204" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79652 ; - skos:exactMatch HGNC_symbol:TMEM204 ; + skos:exactMatch UMLS:C1422452, + HGNC:14158, + HGNC_symbol:TMEM204 ; biolink:category biolink:Gene . OMIM:611005 a owl:Class ; @@ -286332,14 +297649,15 @@ OMIM:611005 a owl:Class ; PMID:17267406, PMID:22357625, PMID:23446422 ; - oboInOwl:hasDbXref UMLS:C1538844 ; oboInOwl:hasExactSynonym "MEX3C", "mex3 rna-binding family member c", "mex3, c. elegans, homolog of, c", "ring finger- and kh domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51320 ; - skos:exactMatch HGNC_symbol:MEX3C ; + skos:exactMatch UMLS:C1538844, + HGNC:28040, + HGNC_symbol:MEX3C ; biolink:category biolink:Gene . OMIM:611006 a owl:Class ; @@ -286352,8 +297670,6 @@ OMIM:611006 a owl:Class ; PMID:29767723 ; RO:0002525 CHR:9606chr9q21.33 ; RO:0003303 OMIM:617613 ; - oboInOwl:hasDbXref UMLS:C1428729, - UMLS:C4539919 ; oboInOwl:hasExactSynonym "ISCA1", "hesb-like domain-containing 2", "hisca", @@ -286361,39 +297677,43 @@ OMIM:611006 a owl:Class ; "iron-sulfur cluster assembly 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81689 ; - skos:exactMatch HGNC_symbol:ISCA1 ; + skos:exactMatch UMLS:C1428729, + UMLS:C4539919, + HGNC:28660, + HGNC_symbol:ISCA1 ; biolink:category biolink:Gene . OMIM:611007 a owl:Class ; rdfs:label "MEX3A" ; IAO:0000142 PMID:17267406 ; - oboInOwl:hasDbXref UMLS:C1970246 ; oboInOwl:hasExactSynonym "MEX3A", "mex3 rna-binding family member a", "mex3, c. elegans, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92312 ; - skos:exactMatch HGNC_symbol:MEX3A ; + skos:exactMatch UMLS:C1970246, + HGNC:33482, + HGNC_symbol:MEX3A ; biolink:category biolink:Gene . OMIM:611008 a owl:Class ; rdfs:label "MEX3B" ; IAO:0000142 PMID:17267406 ; - oboInOwl:hasDbXref UMLS:C1538845 ; oboInOwl:hasExactSynonym "MEX3B", "mex3 rna-binding family member B", "mex3, c. elegans, homolog of, B", "ring finger- and kh domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84206 ; - skos:exactMatch HGNC_symbol:MEX3B ; + skos:exactMatch UMLS:C1538845, + HGNC:25297, + HGNC_symbol:MEX3B ; biolink:category biolink:Gene . OMIM:611009 a owl:Class ; rdfs:label "MEX3D" ; IAO:0000142 PMID:14769789, PMID:17267406 ; - oboInOwl:hasDbXref UMLS:C1424512 ; oboInOwl:hasExactSynonym "MEX3D", "kiaa2031", "mex3 rna-binding family member d", @@ -286402,40 +297722,44 @@ OMIM:611009 a owl:Class ; "tino" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399664 ; - skos:exactMatch HGNC_symbol:MEX3D ; + skos:exactMatch UMLS:C1424512, + HGNC:16734, + HGNC_symbol:MEX3D ; biolink:category biolink:Gene . OMIM:611011 a owl:Class ; rdfs:label "TMEM259" ; IAO:0000142 PMID:16084606 ; - oboInOwl:hasDbXref UMLS:C1424703 ; oboInOwl:hasExactSynonym "TMEM259", "chromosome 19 open reading frame 6", "membralin", "transmembrane protein 259" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91304 ; - skos:exactMatch HGNC_symbol:TMEM259 ; + skos:exactMatch UMLS:C1424703, + HGNC:17039, + HGNC_symbol:TMEM259 ; biolink:category biolink:Gene . OMIM:611012 a owl:Class ; rdfs:label "RGSL1" ; IAO:0000142 PMID:12801632 ; - oboInOwl:hasDbXref UMLS:C1425666 ; oboInOwl:hasExactSynonym "RGSL1", "regulator of g protein signaling-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353299 ; - skos:exactMatch HGNC_symbol:RGSL1 ; + skos:exactMatch UMLS:C1425666, + HGNC:18636, + HGNC_symbol:RGSL1 ; biolink:category biolink:Gene . OMIM:611013 a owl:Class ; rdfs:label "RGSL2" ; IAO:0000142 PMID:12801632 ; - oboInOwl:hasDbXref UMLS:C1425665 ; oboInOwl:hasExactSynonym "RGSL2", "regulator of g protein signaling-like 2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1425665 ; biolink:category biolink:Gene . OMIM:611015 a owl:Class ; @@ -286455,10 +297779,10 @@ OMIM:611015 a owl:Class ; PMID:9298901, PMID:9546821 ; RO:0002525 CHR:9606chr7q31 ; - oboInOwl:hasDbXref UMLS:C1970243 ; oboInOwl:hasExactSynonym "AUTS9", "autism, susceptibility to, 9" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1970243 ; biolink:category biolink:Disease . OMIM:611016 a owl:Class ; @@ -286474,10 +297798,10 @@ OMIM:611016 a owl:Class ; PMID:7643354, PMID:8655659 ; RO:0002525 CHR:9606chr7q36 ; - oboInOwl:hasDbXref UMLS:C1970242 ; oboInOwl:hasExactSynonym "AUTS10", "autism, susceptibility to, 10" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1970242 ; biolink:category biolink:Disease . OMIM:611017 a owl:Class ; @@ -286485,37 +297809,40 @@ OMIM:611017 a owl:Class ; IAO:0000142 PMID:16128611, PMID:17255948, PMID:22002062 ; - oboInOwl:hasDbXref UMLS:C1540143 ; oboInOwl:hasExactSynonym "TYSND1", "trypsin domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219743 ; - skos:exactMatch HGNC_symbol:TYSND1 ; + skos:exactMatch UMLS:C1540143, + HGNC:28531, + HGNC_symbol:TYSND1 ; biolink:category biolink:Gene . OMIM:611018 a owl:Class ; rdfs:label "PAIP2B" ; IAO:0000142 PMID:16804161, PMID:17381337 ; - oboInOwl:hasDbXref UMLS:C1970240 ; oboInOwl:hasExactSynonym "PAIP2B", "pabp-interacting protein 2b", "poly(a)-binding protein-interacting protein 2b", "polyadenylate-binding protein-interacting protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400961 ; - skos:exactMatch HGNC_symbol:PAIP2B ; + skos:exactMatch UMLS:C1970240, + HGNC:29200, + HGNC_symbol:PAIP2B ; biolink:category biolink:Gene . OMIM:611019 a owl:Class ; rdfs:label "ATP6V0E2" ; IAO:0000142 PMID:17350184 ; - oboInOwl:hasDbXref UMLS:C1825509 ; oboInOwl:hasExactSynonym "ATP6V0E2", "atpase, h+ transporting, lysosomal, 9-kd, v0 subunit e2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155066 ; - skos:exactMatch HGNC_symbol:ATP6V0E2 ; + skos:exactMatch UMLS:C1825509, + HGNC:21723, + HGNC_symbol:ATP6V0E2 ; biolink:category biolink:Gene . OMIM:611020 a owl:Class ; @@ -286540,26 +297867,28 @@ OMIM:611020 a owl:Class ; PMID:22162762, PMID:22174421, PMID:22286305 ; - oboInOwl:hasDbXref UMLS:C1537719 ; oboInOwl:hasExactSynonym "MIR21", "micro RNA 21", "mirn21", "mirna21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406991 ; - skos:exactMatch HGNC_symbol:MIR21 ; + skos:exactMatch UMLS:C1537719, + HGNC:31586, + HGNC_symbol:MIR21 ; biolink:category biolink:Gene . OMIM:611021 a owl:Class ; rdfs:label "NMD3" ; IAO:0000142 PMID:12773398 ; - oboInOwl:hasDbXref UMLS:C1538068 ; oboInOwl:hasExactSynonym "NMD3", "nmd3 ribosome export adaptor", "nmd3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51068 ; - skos:exactMatch HGNC_symbol:NMD3 ; + skos:exactMatch UMLS:C1538068, + HGNC:24250, + HGNC_symbol:NMD3 ; biolink:category biolink:Gene . OMIM:611023 a owl:Class ; @@ -286570,7 +297899,6 @@ OMIM:611023 a owl:Class ; PMID:26189817 ; RO:0002525 CHR:9606chr14q23.1 ; RO:0003303 OMIM:616539 ; - oboInOwl:hasDbXref UMLS:C1823499 ; oboInOwl:hasExactSynonym "TRMT5", "kiaa1393", "trm5", @@ -286578,34 +297906,38 @@ OMIM:611023 a owl:Class ; "trna methyltransferase 5, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57570 ; - skos:exactMatch HGNC_symbol:TRMT5 ; + skos:exactMatch UMLS:C1823499, + HGNC:23141, + HGNC_symbol:TRMT5 ; biolink:category biolink:Gene . OMIM:611024 a owl:Class ; rdfs:label "ZNF667" ; IAO:0000142 PMID:17397802 ; - oboInOwl:hasDbXref UMLS:C1538231 ; oboInOwl:hasExactSynonym "ZNF667", "mipu1, rat, homolog of", "zinc finger protein 667" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63934 ; - skos:exactMatch HGNC_symbol:ZNF667 ; + skos:exactMatch UMLS:C1538231, + HGNC:28854, + HGNC_symbol:ZNF667 ; biolink:category biolink:Gene . OMIM:611025 a owl:Class ; rdfs:label "ENKUR" ; IAO:0000142 PMID:15385169, PMID:29257953 ; - oboInOwl:hasDbXref UMLS:C1428701, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "ENKUR", "chromosome 10 open reading frame 63", "enkurin, mouse, homolog of", "enkurin, trpc channel-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219670 ; - skos:exactMatch HGNC_symbol:ENKUR ; + skos:exactMatch UMLS:C1428701, + UMLS:C2986382, + HGNC:28388, + HGNC_symbol:ENKUR ; biolink:category biolink:Gene . OMIM:611026 a owl:Class ; @@ -286621,8 +297953,6 @@ OMIM:611026 a owl:Class ; PMID:23745665 ; RO:0002525 CHR:9606chr16q23.1 ; RO:0003303 OMIM:612319 ; - oboInOwl:hasDbXref UMLS:C1427405, - UMLS:C3496228 ; oboInOwl:hasExactSynonym "FA2H", "fah1, s. cerevisiae, homolog of", "fatty acid 2-hydroxylase", @@ -286631,20 +297961,24 @@ OMIM:611026 a owl:Class ; "scs7, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79152 ; - skos:exactMatch HGNC_symbol:FA2H ; + skos:exactMatch UMLS:C1427405, + UMLS:C3496228, + HGNC:21197, + HGNC_symbol:FA2H ; biolink:category biolink:Gene . OMIM:611027 a owl:Class ; rdfs:label "SHCBP1" ; IAO:0000142 PMID:10086341 ; - oboInOwl:hasDbXref UMLS:C1539766 ; oboInOwl:hasExactSynonym "SHCBP1", "protein expressed 1n activated lymphocytes", "shc sh2 domain-binding protein 1", "shc-binding and spindle-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79801 ; - skos:exactMatch HGNC_symbol:SHCBP1 ; + skos:exactMatch UMLS:C1539766, + HGNC:29547, + HGNC_symbol:SHCBP1 ; biolink:category biolink:Gene . OMIM:611028 a owl:Class ; @@ -286652,38 +297986,41 @@ OMIM:611028 a owl:Class ; IAO:0000142 PMID:15375526, PMID:24904167, PMID:28839191 ; - oboInOwl:hasDbXref UMLS:C1539999 ; oboInOwl:hasExactSynonym "TMEM30A", "cdc50, s. cerevisiae, homolog of, a", "transmembrane protein 30a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55754 ; - skos:exactMatch HGNC_symbol:TMEM30A ; + skos:exactMatch UMLS:C1539999, + HGNC:16667, + HGNC_symbol:TMEM30A ; biolink:category biolink:Gene . OMIM:611029 a owl:Class ; rdfs:label "TMEM30B" ; IAO:0000142 PMID:15375526 ; - oboInOwl:hasDbXref UMLS:C1540000 ; oboInOwl:hasExactSynonym "TMEM30B", "cdc50, s. cerevisiae, homolog of, B", "transmembrane protein 30b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161291 ; - skos:exactMatch HGNC_symbol:TMEM30B ; + skos:exactMatch UMLS:C1540000, + HGNC:27254, + HGNC_symbol:TMEM30B ; biolink:category biolink:Gene . OMIM:611030 a owl:Class ; rdfs:label "TMEM30C" ; IAO:0000142 PMID:15375526, PMID:17258408 ; - oboInOwl:hasDbXref UMLS:C1540001 ; oboInOwl:hasExactSynonym "TMEM30C", "cdc50, s. cerevisiae, homolog of, c", "transmembrane protein 30c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644444 ; - skos:exactMatch HGNC_symbol:TMEM30CP ; + skos:exactMatch UMLS:C1540001, + HGNC:30443, + HGNC_symbol:TMEM30CP ; biolink:category biolink:Gene . OMIM:611032 a owl:Class ; @@ -286691,24 +298028,26 @@ OMIM:611032 a owl:Class ; IAO:0000142 PMID:15756417, PMID:16395525, PMID:17074343 ; - oboInOwl:hasDbXref UMLS:C1823089 ; oboInOwl:hasExactSynonym "SPATA17", "msrg11", "spermatogenesis-associated protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128153 ; - skos:exactMatch HGNC_symbol:SPATA17 ; + skos:exactMatch UMLS:C1823089, + HGNC:25184, + HGNC_symbol:SPATA17 ; biolink:category biolink:Gene . OMIM:611033 a owl:Class ; rdfs:label "C11ORF21" ; IAO:0000142 PMID:11054561 ; - oboInOwl:hasDbXref UMLS:C1421892 ; oboInOwl:hasExactSynonym "C11ORF21", "chromosome 11 open reading frame 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29125 ; - skos:exactMatch HGNC_symbol:C11orf21 ; + skos:exactMatch UMLS:C1421892, + HGNC:13231, + HGNC_symbol:C11orf21 ; biolink:category biolink:Gene . OMIM:611034 a owl:Class ; @@ -286718,40 +298057,43 @@ OMIM:611034 a owl:Class ; PMID:9149941 ; RO:0002525 CHR:9606chr6p22.2 ; RO:0003303 OMIM:612671 ; - oboInOwl:hasDbXref UMLS:C1420111 ; oboInOwl:hasExactSynonym "SLC17A3", "npt4", "solute carrier family 17 (organic anion transporter), member 3", "solute carrier family 17 (sodium phosphate cotransporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10786 ; - skos:exactMatch HGNC_symbol:SLC17A3 ; + skos:exactMatch UMLS:C1420111, + HGNC:10931, + HGNC_symbol:SLC17A3 ; biolink:category biolink:Gene . OMIM:611035 a owl:Class ; rdfs:label "APLF" ; IAO:0000142 PMID:17353262, PMID:18172500 ; - oboInOwl:hasDbXref UMLS:C1428740 ; oboInOwl:hasExactSynonym "APLF", "aprataxin- and pnk-like factor", "aprataxin- and pnkp-like factor", "chromosome 2 open reading frame 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200558 ; - skos:exactMatch HGNC_symbol:APLF ; + skos:exactMatch UMLS:C1428740, + HGNC:28724, + HGNC_symbol:APLF ; biolink:category biolink:Gene . OMIM:611036 a owl:Class ; rdfs:label "SLC2A13" ; IAO:0000142 PMID:11500374 ; - oboInOwl:hasDbXref UMLS:C1423860 ; oboInOwl:hasExactSynonym "SLC2A13", "proton (h+) myoinositol symporter", "solute carrier family 2 (facilitated glucose transporter), member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114134 ; - skos:exactMatch HGNC_symbol:SLC2A13 ; + skos:exactMatch UMLS:C1423860, + HGNC:15956, + HGNC_symbol:SLC2A13 ; biolink:category biolink:Gene . OMIM:611037 a owl:Class ; @@ -286760,26 +298102,28 @@ OMIM:611037 a owl:Class ; PMID:26522469 ; RO:0002525 CHR:9606chr3p14.1 ; RO:0003303 OMIM:616794 ; - oboInOwl:hasDbXref UMLS:C1427063, - UMLS:C4225206 ; oboInOwl:hasExactSynonym "SLC25A26", "s-adenosylmethionine carrier protein", "solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115286 ; - skos:exactMatch HGNC_symbol:SLC25A26 ; + skos:exactMatch UMLS:C1427063, + UMLS:C4225206, + HGNC:20661, + HGNC_symbol:SLC25A26 ; biolink:category biolink:Gene . OMIM:611039 a owl:Class ; rdfs:label "SLC2A14" ; IAO:0000142 PMID:12504846 ; - oboInOwl:hasDbXref UMLS:C1425431 ; oboInOwl:hasExactSynonym "SLC2A14", "glucose transporter 14", "solute carrier family 2 (facilitated glucose transporter), member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144195 ; - skos:exactMatch HGNC_symbol:SLC2A14 ; + skos:exactMatch UMLS:C1425431, + HGNC:18301, + HGNC_symbol:SLC2A14 ; biolink:category biolink:Gene . OMIM:611040 a owl:Class ; @@ -286791,34 +298135,36 @@ OMIM:611040 a owl:Class ; PMID:21670352, PMID:22605927, PMID:23127749 ; - oboInOwl:hasDbXref UMLS:C1970236 ; oboInOwl:hasExactSynonym "MCOP5", "microphthalmia, isolated 5", "microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen" ; rdfs:subClassOf OMIMPS:251600 ; + skos:exactMatch UMLS:C1970236 ; biolink:category biolink:Disease . OMIM:611041 a owl:Class ; rdfs:label "TRIM47" ; IAO:0000142 PMID:11511098 ; - oboInOwl:hasDbXref UMLS:C1425957 ; oboInOwl:hasExactSynonym "TRIM47", "gene overexpressed 1n astrocytoma", "tripartite motif-containing protein 47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91107 ; - skos:exactMatch HGNC_symbol:TRIM47 ; + skos:exactMatch UMLS:C1425957, + HGNC:19020, + HGNC_symbol:TRIM47 ; biolink:category biolink:Gene . OMIM:611042 a owl:Class ; rdfs:label "LELP1" ; IAO:0000142 PMID:17387579 ; - oboInOwl:hasDbXref UMLS:C1825808 ; oboInOwl:hasExactSynonym "LELP1", "late cornified envelope-like proline-rich 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149018 ; - skos:exactMatch HGNC_symbol:LELP1 ; + skos:exactMatch UMLS:C1825808, + HGNC:32046, + HGNC_symbol:LELP1 ; biolink:category biolink:Gene . OMIM:611043 a owl:Class ; @@ -286835,7 +298181,6 @@ OMIM:611043 a owl:Class ; PMID:20512147, PMID:22898984, PMID:23594738 ; - oboInOwl:hasDbXref UMLS:C1423887 ; oboInOwl:hasExactSynonym "LIN28A", "lin28", "lin28 homolog a", @@ -286843,7 +298188,9 @@ OMIM:611043 a owl:Class ; "zinc finger cchc domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79727 ; - skos:exactMatch HGNC_symbol:LIN28A ; + skos:exactMatch UMLS:C1423887, + HGNC:15986, + HGNC_symbol:LIN28A ; biolink:category biolink:Gene . OMIM:611044 a owl:Class ; @@ -286854,13 +298201,14 @@ OMIM:611044 a owl:Class ; PMID:23042116, PMID:27383785, PMID:31959994 ; - oboInOwl:hasDbXref UMLS:C1825819 ; oboInOwl:hasExactSynonym "LIN28B", "lin28 homolog B", "lin28, c. elegans, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389421 ; - skos:exactMatch HGNC_symbol:LIN28B ; + skos:exactMatch UMLS:C1825819, + HGNC:32207, + HGNC_symbol:LIN28B ; biolink:category biolink:Gene . OMIM:611045 a owl:Class ; @@ -286878,9 +298226,6 @@ OMIM:611045 a owl:Class ; PMID:30626647 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:612541 ; - oboInOwl:hasDbXref UMLS:C1428419, - UMLS:C2675526, - UMLS:C2751630 ; oboInOwl:hasExactSynonym "G6PC3", "g6pase-beta", "glucose-6-phosphatase, beta", @@ -286888,18 +298233,23 @@ OMIM:611045 a owl:Class ; "ubiquitous glucose-6-phosphatase catalytic subunit-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92579 ; - skos:exactMatch HGNC_symbol:G6PC3 ; + skos:exactMatch UMLS:C1428419, + UMLS:C2675526, + UMLS:C2751630, + HGNC:24861, + HGNC_symbol:G6PC3 ; biolink:category biolink:Gene . OMIM:611047 a owl:Class ; rdfs:label "RAET1L" ; IAO:0000142 PMID:11827464 ; - oboInOwl:hasDbXref UMLS:C1424557 ; oboInOwl:hasExactSynonym "RAET1L", "retinoic acid early transcript 1l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154064 ; - skos:exactMatch HGNC_symbol:RAET1L ; + skos:exactMatch UMLS:C1424557, + HGNC:16798, + HGNC_symbol:RAET1L ; biolink:category biolink:Gene . OMIM:611048 a owl:Class ; @@ -286911,38 +298261,41 @@ OMIM:611048 a owl:Class ; PMID:22622579, PMID:9153226, PMID:9413226 ; - oboInOwl:hasDbXref UMLS:C1422599 ; oboInOwl:hasExactSynonym "PPP1R15A", "growth arrest and dna-damage-inducible gene 34", "protein phosphatase 1, regulatory subunit 15a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23645 ; - skos:exactMatch HGNC_symbol:PPP1R15A ; + skos:exactMatch UMLS:C1422599, + HGNC:14375, + HGNC_symbol:PPP1R15A ; biolink:category biolink:Gene . OMIM:611049 a owl:Class ; rdfs:label "SLC17A2" ; IAO:0000142 PMID:9149941 ; - oboInOwl:hasDbXref UMLS:C1420110 ; oboInOwl:hasExactSynonym "SLC17A2", "npt3", "solute carrier family 17 (sodium phosphate cotransporter), member 2", "solute carrier family 17, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10246 ; - skos:exactMatch HGNC_symbol:SLC17A2 ; + skos:exactMatch UMLS:C1420110, + HGNC:10930, + HGNC_symbol:SLC17A2 ; biolink:category biolink:Gene . OMIM:611050 a owl:Class ; rdfs:label "LUZP6" ; IAO:0000142 PMID:16982933 ; - oboInOwl:hasDbXref UMLS:C1970234 ; oboInOwl:hasExactSynonym "LUZP6", "leucine zipper protein 6", "myeloproliferative disease-associated antigen, 6-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:767558 ; - skos:exactMatch HGNC_symbol:LUZP6 ; + skos:exactMatch UMLS:C1970234, + HGNC:33955, + HGNC_symbol:LUZP6 ; biolink:category biolink:Gene . OMIM:611051 a owl:Class ; @@ -286953,14 +298306,15 @@ OMIM:611051 a owl:Class ; PMID:17503326 ; RO:0002525 CHR:9606chr3q28 ; RO:0003303 OMIM:607453 ; - oboInOwl:hasDbXref UMLS:C1824574 ; oboInOwl:hasExactSynonym "CCDC50", "chromosome 3 open reading frame 6", "coiled-coil domain-containing protein 50", "ymer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152137 ; - skos:exactMatch HGNC_symbol:CCDC50 ; + skos:exactMatch UMLS:C1824574, + HGNC:18111, + HGNC_symbol:CCDC50 ; biolink:category biolink:Gene . OMIM:611052 a owl:Class ; @@ -286983,10 +298337,6 @@ OMIM:611052 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:619056 ; - oboInOwl:hasDbXref UMLS:C1822684, - UMLS:C5394583, - UMLS:C5394584, - UMLS:C5436699 ; oboInOwl:hasExactSynonym "SETD1A", "kiaa0339", "lysine-specific methyltransferase 2f", @@ -286995,7 +298345,12 @@ OMIM:611052 a owl:Class ; "set1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9739 ; - skos:exactMatch HGNC_symbol:SETD1A ; + skos:exactMatch UMLS:C1822684, + UMLS:C5394583, + UMLS:C5394584, + UMLS:C5436699, + HGNC:29010, + HGNC_symbol:SETD1A ; biolink:category biolink:Gene . OMIM:611053 a owl:Class ; @@ -287005,14 +298360,15 @@ OMIM:611053 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:617773 ; - oboInOwl:hasDbXref UMLS:C1428171 ; oboInOwl:hasExactSynonym "RUSC2", "iporin", "kiaa0375", "run domain and sh3 domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9853 ; - skos:exactMatch HGNC_symbol:RUSC2 ; + skos:exactMatch UMLS:C1428171, + HGNC:23625, + HGNC_symbol:RUSC2 ; biolink:category biolink:Gene . OMIM:611054 a owl:Class ; @@ -287022,14 +298378,15 @@ OMIM:611054 a owl:Class ; PMID:17419996, PMID:7796809, PMID:9624153 ; - oboInOwl:hasDbXref UMLS:C1418785 ; oboInOwl:hasExactSynonym "PPFIA1", "lar-interacting protein 1", "liprin-alpha-1", "protein-tyrosine phosphatase, receptor-type, f polypeptide-interacting protein alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8500 ; - skos:exactMatch HGNC_symbol:PPFIA1 ; + skos:exactMatch UMLS:C1418785, + HGNC:9245, + HGNC_symbol:PPFIA1 ; biolink:category biolink:Gene . OMIM:611055 a owl:Class ; @@ -287044,8 +298401,6 @@ OMIM:611055 a owl:Class ; PMID:34155378 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:619000 ; - oboInOwl:hasDbXref UMLS:C1822685, - UMLS:C5436574 ; oboInOwl:hasExactSynonym "SETD1B", "kiaa1076", "lysine-specific methyltransferase 2g", @@ -287053,19 +298408,23 @@ OMIM:611055 a owl:Class ; "set1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23067 ; - skos:exactMatch HGNC_symbol:SETD1B ; + skos:exactMatch UMLS:C1822685, + UMLS:C5436574, + HGNC:29187, + HGNC_symbol:SETD1B ; biolink:category biolink:Gene . OMIM:611056 a owl:Class ; rdfs:label "SCLY" ; IAO:0000142 PMID:10692412 ; - oboInOwl:hasDbXref UMLS:C1425354 ; oboInOwl:hasExactSynonym "SCLY", "scl", "selenocysteine lyase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51540 ; - skos:exactMatch HGNC_symbol:SCLY ; + skos:exactMatch UMLS:C1425354, + HGNC:18161, + HGNC_symbol:SCLY ; biolink:category biolink:Gene . OMIM:611057 a owl:Class ; @@ -287077,7 +298436,6 @@ OMIM:611058 a owl:Class ; IAO:0000142 PMID:11463335, PMID:19555649, PMID:21555075 ; - oboInOwl:hasDbXref UMLS:C1538625 ; oboInOwl:hasExactSynonym "PEX5L", "peroxisome biogenesis factor 5-like", "pex5-related protein", @@ -287085,7 +298443,9 @@ OMIM:611058 a owl:Class ; "trip8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51555 ; - skos:exactMatch HGNC_symbol:PEX5L ; + skos:exactMatch UMLS:C1538625, + HGNC:30024, + HGNC_symbol:PEX5L ; biolink:category biolink:Gene . OMIM:611059 a owl:Class ; @@ -287093,13 +298453,14 @@ OMIM:611059 a owl:Class ; IAO:0000142 PMID:16253997, PMID:17355966, PMID:20516061 ; - oboInOwl:hasDbXref UMLS:C1823375 ; oboInOwl:hasExactSynonym "WDR82", "transmembrane protein 113", "wd repeat-containing protein 82" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80335 ; - skos:exactMatch HGNC_symbol:WDR82 ; + skos:exactMatch UMLS:C1823375, + HGNC:28826, + HGNC_symbol:WDR82 ; biolink:category biolink:Gene . OMIM:611060 a owl:Class ; @@ -287116,8 +298477,6 @@ OMIM:611060 a owl:Class ; PMID:9455477 ; RO:0002525 CHR:9606chr18q12.3 ; RO:0003303 OMIM:269150 ; - oboInOwl:hasDbXref UMLS:C1423585, - UMLS:C3888128 ; oboInOwl:hasExactSynonym "SETBP1", "kiaa0437", "seb", @@ -287125,7 +298484,10 @@ OMIM:611060 a owl:Class ; "setbp1/nup98 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26040 ; - skos:exactMatch HGNC_symbol:SETBP1 ; + skos:exactMatch UMLS:C1423585, + UMLS:C3888128, + HGNC:15573, + HGNC_symbol:SETBP1 ; biolink:category biolink:Gene . OMIM:611061 a owl:Class ; @@ -287143,13 +298505,14 @@ OMIM:611061 a owl:Class ; PMID:22732358 ; RO:0002525 CHR:9606chr7p22.3 ; RO:0003303 OMIM:259775 ; - oboInOwl:hasDbXref UMLS:C1427755 ; oboInOwl:hasExactSynonym "FAM20C", "dentin matrix protein 4", "family with sequence similarity 20, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56975 ; - skos:exactMatch HGNC_symbol:FAM20C ; + skos:exactMatch UMLS:C1427755, + HGNC:22140, + HGNC_symbol:FAM20C ; biolink:category biolink:Gene . OMIM:611062 a owl:Class ; @@ -287164,12 +298527,13 @@ OMIM:611062 a owl:Class ; PMID:24196488 ; RO:0002525 CHR:9606chr17q24.2 ; RO:0003303 OMIM:204690 ; - oboInOwl:hasDbXref UMLS:C1427851 ; oboInOwl:hasExactSynonym "FAM20A", "family with sequence similarity 20, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54757 ; - skos:exactMatch HGNC_symbol:FAM20A ; + skos:exactMatch UMLS:C1427851, + HGNC:23015, + HGNC_symbol:FAM20A ; biolink:category biolink:Gene . OMIM:611063 a owl:Class ; @@ -287180,14 +298544,15 @@ OMIM:611063 a owl:Class ; PMID:30105814, PMID:30847897, PMID:9455484 ; - oboInOwl:hasDbXref UMLS:C1427852 ; oboInOwl:hasExactSynonym "FAM20B", "fam20b glycosaminoglycan xylosylkinase", "family with sequence similarity 20, member B", "kiaa0475" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9917 ; - skos:exactMatch HGNC_symbol:FAM20B ; + skos:exactMatch UMLS:C1427852, + HGNC:23017, + HGNC_symbol:FAM20B ; biolink:category biolink:Gene . OMIM:611065 a owl:Class ; @@ -287200,8 +298565,6 @@ OMIM:611065 a owl:Class ; PMID:23086801 ; RO:0002525 CHR:9606chr4q22.1 ; RO:0003303 OMIM:615135 ; - oboInOwl:hasDbXref UMLS:C1538710, - UMLS:C3554575 ; oboInOwl:hasExactSynonym "PPM1K", "branched-chain alpha-ketoacid dehydrogenase phosphatase", "pp2c-type mitochondrial phosphatase", @@ -287210,85 +298573,94 @@ OMIM:611065 a owl:Class ; "protein phosphatase, pp2c domain-containing, 1k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152926 ; - skos:exactMatch HGNC_symbol:PPM1K ; + skos:exactMatch UMLS:C1538710, + UMLS:C3554575, + HGNC:25415, + HGNC_symbol:PPM1K ; biolink:category biolink:Gene . OMIM:611066 a owl:Class ; rdfs:label "PHLPPL" ; IAO:0000142 PMID:17386267 ; - oboInOwl:hasDbXref UMLS:C1538639 ; oboInOwl:hasExactSynonym "PHLPPL", "ph domain and leucine-rich repeat protein phosphatase-like", "phlpp-like", "phlpp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23035 ; - skos:exactMatch HGNC_symbol:PHLPP2 ; + skos:exactMatch UMLS:C1538639, + HGNC:29149, + HGNC_symbol:PHLPP2 ; biolink:category biolink:Gene . OMIM:611068 a owl:Class ; rdfs:label "SNORD43" ; IAO:0000142 PMID:10684968, PMID:8674114 ; - oboInOwl:hasDbXref UMLS:C1822945 ; oboInOwl:hasExactSynonym "SNORD43", "rna, u43 small nucleolar", "small nucleolar rna, c/d box, 43", "snorna, u43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26807 ; - skos:exactMatch HGNC_symbol:SNORD43 ; + skos:exactMatch UMLS:C1822945, + HGNC:10182, + HGNC_symbol:SNORD43 ; biolink:category biolink:Gene . OMIM:611069 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:10684968 ; - oboInOwl:hasDbXref UMLS:C1970210 ; oboInOwl:hasExactSynonym "rna, u86 small nucleolar", "rnu86", "snorna, u86" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116936 ; - skos:exactMatch HGNC_symbol:SNORD139 ; + skos:exactMatch UMLS:C1970210, + HGNC:50421, + HGNC_symbol:SNORD139 ; biolink:category biolink:Gene . OMIM:611070 a owl:Class ; rdfs:label "SNORD83A" ; IAO:0000142 PMID:10684968 ; - oboInOwl:hasDbXref UMLS:C1822992 ; oboInOwl:hasExactSynonym "SNORD83A", "rna, u83a small nucleolar", "small nucleolar rna, c/d box, 83a", "snorna, u83a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116937 ; - skos:exactMatch HGNC_symbol:SNORD83A ; + skos:exactMatch UMLS:C1822992, + HGNC:17131, + HGNC_symbol:SNORD83A ; biolink:category biolink:Gene . OMIM:611071 a owl:Class ; rdfs:label "SNORD83B" ; IAO:0000142 PMID:10684968 ; - oboInOwl:hasDbXref UMLS:C1822993 ; oboInOwl:hasExactSynonym "SNORD83B", "rna, u83b small nucleolar", "small nucleolar rna, c/d box, 83b", "snorna, u83b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116938 ; - skos:exactMatch HGNC_symbol:SNORD83B ; + skos:exactMatch UMLS:C1822993, + HGNC:17132, + HGNC_symbol:SNORD83B ; biolink:category biolink:Gene . OMIM:611072 a owl:Class ; rdfs:label "DNAJC24" ; IAO:0000142 PMID:15485916 ; - oboInOwl:hasDbXref UMLS:C1824962 ; oboInOwl:hasExactSynonym "DNAJC24", "diphthamide biosynthesis protein 4", "dnaj/hsp40 homolog, subfamily c, member 24", "dph4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120526 ; - skos:exactMatch HGNC_symbol:DNAJC24 ; + skos:exactMatch UMLS:C1824962, + HGNC:26979, + HGNC_symbol:DNAJC24 ; biolink:category biolink:Gene . OMIM:611074 a owl:Class ; @@ -287296,14 +298668,15 @@ OMIM:611074 a owl:Class ; IAO:0000142 PMID:14678827, PMID:17353277, PMID:17550780 ; - oboInOwl:hasDbXref UMLS:C1970208 ; oboInOwl:hasExactSynonym "BSX", "brain-specific homeobox", "brain-specific homeobox, mouse, homolog of", "bsx1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390259 ; - skos:exactMatch HGNC_symbol:BSX ; + skos:exactMatch UMLS:C1970208, + HGNC:20450, + HGNC_symbol:BSX ; biolink:category biolink:Gene . OMIM:611075 a owl:Class ; @@ -287311,28 +298684,30 @@ OMIM:611075 a owl:Class ; IAO:0000142 PMID:11042152, PMID:15485916, PMID:19965467 ; - oboInOwl:hasDbXref UMLS:C1824963 ; oboInOwl:hasExactSynonym "DPH5", "diphthamide biosynthesis protein 5", "dph5, s. cerevisiae, homolog of", "hspc143" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51611 ; - skos:exactMatch HGNC_symbol:DPH5 ; + skos:exactMatch UMLS:C1824963, + HGNC:24270, + HGNC_symbol:DPH5 ; biolink:category biolink:Gene . OMIM:611076 a owl:Class ; rdfs:label "NT5DC3" ; IAO:0000142 PMID:15547748, PMID:15827139 ; - oboInOwl:hasDbXref UMLS:C1826481 ; oboInOwl:hasExactSynonym "5-prime-nucleotidase domain-containing protein 3", "NT5DC3", "grp94-neighboring nucleotidase", "tu12b1ty" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51559 ; - skos:exactMatch HGNC_symbol:NT5DC3 ; + skos:exactMatch UMLS:C1826481, + HGNC:30826, + HGNC_symbol:NT5DC3 ; biolink:category biolink:Gene . OMIM:611077 a owl:Class ; @@ -287340,50 +298715,54 @@ OMIM:611077 a owl:Class ; IAO:0000142 PMID:15359280, PMID:16185709, PMID:30885959 ; - oboInOwl:hasDbXref UMLS:C1428594 ; oboInOwl:hasExactSynonym "CHCHD4", "coiled-coil-helix-coiled-coil-helix domain-containing protein 4", "mia40, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131474 ; - skos:exactMatch HGNC_symbol:CHCHD4 ; + skos:exactMatch UMLS:C1428594, + HGNC:26467, + HGNC_symbol:CHCHD4 ; biolink:category biolink:Gene . OMIM:611078 a owl:Class ; rdfs:label "CBWD1" ; IAO:0000142 PMID:11489251, PMID:12421752 ; - oboInOwl:hasDbXref UMLS:C1424770 ; oboInOwl:hasExactSynonym "CBWD1", "cobalamin synthetase w domain-containing protein 1", "cobw domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55871 ; - skos:exactMatch HGNC_symbol:CBWD1 ; + skos:exactMatch UMLS:C1424770, + HGNC:17134, + HGNC_symbol:CBWD1 ; biolink:category biolink:Gene . OMIM:611079 a owl:Class ; rdfs:label "CBWD2" ; IAO:0000142 PMID:12421752 ; - oboInOwl:hasDbXref UMLS:C1425166 ; oboInOwl:hasExactSynonym "CBWD2", "cobalamin synthetase w domain-containing protein 2", "cobw domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150472 ; - skos:exactMatch HGNC_symbol:CBWD2 ; + skos:exactMatch UMLS:C1425166, + HGNC:17907, + HGNC_symbol:CBWD2 ; biolink:category biolink:Gene . OMIM:611080 a owl:Class ; rdfs:label "CBWD3" ; IAO:0000142 PMID:12421752 ; - oboInOwl:hasDbXref UMLS:C1539065 ; oboInOwl:hasExactSynonym "CBWD3", "cobalamin synthetase w domain-containing protein 3", "cobw domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:445571 ; - skos:exactMatch HGNC_symbol:CBWD3 ; + skos:exactMatch UMLS:C1539065, + HGNC:18519, + HGNC_symbol:CBWD3 ; biolink:category biolink:Gene . OMIM:611082 a owl:Class ; @@ -287391,46 +298770,48 @@ OMIM:611082 a owl:Class ; IAO:0000142 PMID:17066261 ; RO:0002525 CHR:9606chr22q12.1 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1970205 ; oboInOwl:hasExactSynonym "MIAT", "c22orf35", "miat gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440823 ; - skos:exactMatch HGNC_symbol:MIAT ; + skos:exactMatch UMLS:C1970205, + HGNC:33425, + HGNC_symbol:MIAT ; biolink:category biolink:Gene . OMIM:611083 a owl:Class ; rdfs:label "ADHFE1" ; IAO:0000142 PMID:12592711, PMID:16616524 ; - oboInOwl:hasDbXref UMLS:C1424212 ; oboInOwl:hasExactSynonym "ADHFE1", "alcohol dehydrogenase 8", "alcohol dehydrogenase, iron-containing, 1", "hydroxyacid-oxoacid transhydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137872 ; - skos:exactMatch HGNC_symbol:ADHFE1 ; + skos:exactMatch UMLS:C1424212, + HGNC:16354, + HGNC_symbol:ADHFE1 ; biolink:category biolink:Gene . OMIM:611084 a owl:Class ; rdfs:label "FOXD4L1" ; IAO:0000142 PMID:12421752 ; - oboInOwl:hasDbXref UMLS:C1425574 ; oboInOwl:hasExactSynonym "FOXD4L1", "forkhead box d4-like 1", "foxd4-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200350 ; - skos:exactMatch HGNC_symbol:FOXD4L1 ; + skos:exactMatch UMLS:C1425574, + HGNC:18521, + HGNC_symbol:FOXD4L1 ; biolink:category biolink:Gene . OMIM:611085 a owl:Class ; rdfs:label "FOXD4L4" ; IAO:0000142 PMID:12234674, PMID:12421752 ; - oboInOwl:hasDbXref UMLS:C1970204 ; oboInOwl:hasExactSynonym "FOXD4L4", "forkhead box d4-like 2", "forkhead box d4-like 4", @@ -287438,19 +298819,22 @@ OMIM:611085 a owl:Class ; "foxd4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:349334 ; - skos:exactMatch HGNC_symbol:FOXD4L4 ; + skos:exactMatch UMLS:C1970204, + HGNC:23762, + HGNC_symbol:FOXD4L4 ; biolink:category biolink:Gene . OMIM:611086 a owl:Class ; rdfs:label "FOXD4L3" ; IAO:0000142 PMID:12421752 ; - oboInOwl:hasDbXref UMLS:C1425575 ; oboInOwl:hasExactSynonym "FOXD4L3", "forkhead box d4-like 3", "foxd4-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286380 ; - skos:exactMatch HGNC_symbol:FOXD4L3 ; + skos:exactMatch UMLS:C1425575, + HGNC:18523, + HGNC_symbol:FOXD4L3 ; biolink:category biolink:Gene . OMIM:611088 a owl:Class ; @@ -287460,15 +298844,16 @@ OMIM:611088 a owl:Class ; PMID:24094744 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:615504 ; - oboInOwl:hasDbXref UMLS:C1824589, - UMLS:C3809701 ; oboInOwl:hasExactSynonym "CCDC65", "coiled-coil domain-containing protein 65", "dynein regulatory complex subunit 2", "nyd-sp28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85478 ; - skos:exactMatch HGNC_symbol:CCDC65 ; + skos:exactMatch UMLS:C1824589, + UMLS:C3809701, + HGNC:29937, + HGNC_symbol:CCDC65 ; biolink:category biolink:Gene . OMIM:611089 a owl:Class ; @@ -287479,7 +298864,6 @@ OMIM:611089 a owl:Class ; PMID:20817957 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:160150 ; - oboInOwl:hasDbXref UMLS:C1826326 ; oboInOwl:hasExactSynonym "MTMR14", "chromosome 3 open reading frame 29", "egg-derived tyrosine phosphatase, drosophila, homolog of", @@ -287487,7 +298871,9 @@ OMIM:611089 a owl:Class ; "myotubularin-related protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64419 ; - skos:exactMatch HGNC_symbol:MTMR14 ; + skos:exactMatch UMLS:C1826326, + HGNC:26190, + HGNC_symbol:MTMR14 ; biolink:category biolink:Gene . OMIM:611092 a owl:Class ; @@ -287495,12 +298881,12 @@ OMIM:611092 a owl:Class ; IAO:0000142 PMID:17120046, PMID:17847003, PMID:25039795 ; - oboInOwl:hasDbXref UMLS:C1970198, - ORPHA:88616 ; oboInOwl:hasExactSynonym "MRT6", "intellectual developmental disorder, autosomal recessive 6", "mental retardation, autosomal recessive 6" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1970198, + ORPHA:88616 ; biolink:category biolink:Disease . OMIM:611094 a owl:Class ; @@ -287512,7 +298898,6 @@ OMIM:611098 a owl:Class ; IAO:0000142 PMID:11443137, PMID:15897894, PMID:23990467 ; - oboInOwl:hasDbXref UMLS:C1823132 ; oboInOwl:hasExactSynonym "STEAP4", "six-transmembrane epithelial antigen of prostate 4", "six-transmembrane protein of prostate 2", @@ -287520,7 +298905,9 @@ OMIM:611098 a owl:Class ; "tumor necrosis-alpha-induced adipose-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79689 ; - skos:exactMatch HGNC_symbol:STEAP4 ; + skos:exactMatch UMLS:C1823132, + HGNC:21923, + HGNC_symbol:STEAP4 ; biolink:category biolink:Gene . OMIM:611099 a owl:Class ; @@ -287531,14 +298918,15 @@ OMIM:611099 a owl:Class ; PMID:17495932, PMID:3311968, PMID:7590364 ; - oboInOwl:hasDbXref UMLS:C1538611 ; oboInOwl:hasExactSynonym "PDIA6", "endoplasmic reticulum protein 5", "p5", "protein disulfide isomerase, family a, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10130 ; - skos:exactMatch HGNC_symbol:PDIA6 ; + skos:exactMatch UMLS:C1538611, + HGNC:30168, + HGNC_symbol:PDIA6 ; biolink:category biolink:Gene . OMIM:611101 a owl:Class ; @@ -287550,14 +298938,15 @@ OMIM:611101 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr1p36.31 ; RO:0003303 OMIM:611067 ; - oboInOwl:hasDbXref UMLS:C1826596 ; oboInOwl:hasExactSynonym "PLEKHG5", "kiaa0720", "pleckstrin homology domain- and rhogef domain-containing protein g5", "pleckstrin homology domain-containing protein, family g, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57449 ; - skos:exactMatch HGNC_symbol:PLEKHG5 ; + skos:exactMatch UMLS:C1826596, + HGNC:29105, + HGNC_symbol:PLEKHG5 ; biolink:category biolink:Gene . OMIM:611102 a owl:Class ; @@ -287568,11 +298957,11 @@ OMIM:611102 a owl:Class ; PMID:19246478, PMID:26011646 ; RO:0002525 CHR:9606chr15q15.3 ; - oboInOwl:hasDbXref UMLS:C1970187 ; oboInOwl:hasExactSynonym "DIS", "chromosome 15q15.3 deletion syndrome", "deafness, sensorineural, and male infertility", "deafness-infertility syndrome" ; + skos:exactMatch UMLS:C1970187 ; biolink:category biolink:Disease . OMIM:611103 a owl:Class ; @@ -287587,12 +298976,13 @@ OMIM:611103 a owl:Class ; PMID:27233227 ; RO:0002525 CHR:9606chr3q21.3 ; RO:0003303 OMIM:611126 ; - oboInOwl:hasDbXref UMLS:C1427586 ; oboInOwl:hasExactSynonym "ACAD9", "acyl-coa dehydrogenase family, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28976 ; - skos:exactMatch HGNC_symbol:ACAD9 ; + skos:exactMatch UMLS:C1427586, + HGNC:21497, + HGNC_symbol:ACAD9 ; biolink:category biolink:Gene . OMIM:611104 a owl:Class ; @@ -287608,14 +298998,15 @@ OMIM:611104 a owl:Class ; PMID:9668039 ; RO:0002525 CHR:9606chr12p11.21 ; RO:0003303 OMIM:609311 ; - oboInOwl:hasDbXref UMLS:C1426031, - UMLS:C1836336 ; oboInOwl:hasExactSynonym "FGD4", "fgd1-related f-actin-binding protein", "fyve, rhogef, and ph domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121512 ; - skos:exactMatch HGNC_symbol:FGD4 ; + skos:exactMatch UMLS:C1426031, + UMLS:C1836336, + HGNC:19125, + HGNC_symbol:FGD4 ; biolink:category biolink:Gene . OMIM:611106 a owl:Class ; @@ -287623,7 +299014,6 @@ OMIM:611106 a owl:Class ; IAO:0000142 PMID:15272417, PMID:17210687, PMID:18178554 ; - oboInOwl:hasDbXref UMLS:C1823927 ; oboInOwl:hasExactSynonym "ZC3H12D", "c6orf95", "mcpip4", @@ -287631,69 +299021,76 @@ OMIM:611106 a owl:Class ; "zinc finger ccch domain-containing protein 12d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340152 ; - skos:exactMatch HGNC_symbol:ZC3H12D ; + skos:exactMatch UMLS:C1823927, + HGNC:21175, + HGNC_symbol:ZC3H12D ; biolink:category biolink:Gene . OMIM:611108 a owl:Class ; rdfs:label "VWC2" ; IAO:0000142 PMID:17400546 ; - oboInOwl:hasDbXref UMLS:C1823654 ; oboInOwl:hasExactSynonym "VWC2", "brain-specific chordin-like protein", "von willebrand factor c domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375567 ; - skos:exactMatch HGNC_symbol:VWC2 ; + skos:exactMatch UMLS:C1823654, + HGNC:30200, + HGNC_symbol:VWC2 ; biolink:category biolink:Gene . OMIM:611110 a owl:Class ; rdfs:label "MAP3K7CL" ; IAO:0000142 PMID:15168726 ; - oboInOwl:hasDbXref UMLS:C1424295 ; oboInOwl:hasExactSynonym "MAP3K7CL", "chromosome 21 open reading frame 7", "map3k7 c-terminal-like protein", "tak1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56911 ; - skos:exactMatch HGNC_symbol:MAP3K7CL ; + skos:exactMatch UMLS:C1424295, + HGNC:16457, + HGNC_symbol:MAP3K7CL ; biolink:category biolink:Gene . OMIM:611111 a owl:Class ; rdfs:label "DPPA5" ; IAO:0000142 PMID:15790765, PMID:17913455 ; - oboInOwl:hasDbXref UMLS:C1426086 ; oboInOwl:hasExactSynonym "DPPA5", "developmental pluripotency-associated gene 5", "embryonal stem cell-specific gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340168 ; - skos:exactMatch HGNC_symbol:DPPA5 ; + skos:exactMatch UMLS:C1426086, + HGNC:19201, + HGNC_symbol:DPPA5 ; biolink:category biolink:Gene . OMIM:611112 a owl:Class ; rdfs:label "DACT3" ; IAO:0000142 PMID:16881060 ; - oboInOwl:hasDbXref UMLS:C1824881 ; oboInOwl:hasExactSynonym "DACT3", "dapper, antagonist of beta-catenin, 3", "dapper, xenopus, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147906 ; - skos:exactMatch HGNC_symbol:DACT3 ; + skos:exactMatch UMLS:C1824881, + HGNC:30745, + HGNC_symbol:DACT3 ; biolink:category biolink:Gene . OMIM:611113 a owl:Class ; rdfs:label "CEMP1" ; IAO:0000142 PMID:16263347 ; - oboInOwl:hasDbXref UMLS:C1824698 ; oboInOwl:hasExactSynonym "CEMP1", "cementum protein 1", "cementum protein 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:752014 ; - skos:exactMatch HGNC_symbol:CEMP1 ; + skos:exactMatch UMLS:C1824698, + HGNC:32553, + HGNC_symbol:CEMP1 ; biolink:category biolink:Gene . OMIM:611114 a owl:Class ; @@ -287702,34 +299099,35 @@ OMIM:611114 a owl:Class ; PMID:17438277, PMID:17923094, PMID:18066065 ; - oboInOwl:hasDbXref UMLS:C1537805 ; oboInOwl:hasExactSynonym "MIR150", "micro RNA 150", "mirn150", "mirna150" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406942 ; - skos:exactMatch HGNC_symbol:MIR150 ; + skos:exactMatch UMLS:C1537805, + HGNC:31537, + HGNC_symbol:MIR150 ; biolink:category biolink:Gene . OMIM:611115 a owl:Class ; rdfs:label "VWCE" ; IAO:0000142 PMID:12869306 ; - oboInOwl:hasDbXref UMLS:C1823655 ; oboInOwl:hasExactSynonym "VWCE", "urg11", "von willebrand factor c and egf domain-containing protein", "vwc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220001 ; - skos:exactMatch HGNC_symbol:VWCE ; + skos:exactMatch UMLS:C1823655, + HGNC:26487, + HGNC_symbol:VWCE ; biolink:category biolink:Gene . OMIM:611116 a owl:Class ; rdfs:label "MIR208A" ; IAO:0000142 PMID:17379774, PMID:19922871 ; - oboInOwl:hasDbXref UMLS:C1537845 ; oboInOwl:hasExactSynonym "MIR208A", "micro RNA 208a", "mir208", @@ -287739,20 +299137,23 @@ OMIM:611116 a owl:Class ; "mirna208a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406990 ; - skos:exactMatch HGNC_symbol:MIR208A ; + skos:exactMatch UMLS:C1537845, + HGNC:31585, + HGNC_symbol:MIR208A ; biolink:category biolink:Gene . OMIM:611117 a owl:Class ; rdfs:label "PPME1" ; IAO:0000142 PMID:10318862, PMID:18394995 ; - oboInOwl:hasDbXref UMLS:C1826667 ; oboInOwl:hasExactSynonym "PPME1", "pme1", "protein phosphatase methylesterase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51400 ; - skos:exactMatch HGNC_symbol:PPME1 ; + skos:exactMatch UMLS:C1826667, + HGNC:30178, + HGNC_symbol:PPME1 ; biolink:category biolink:Gene . OMIM:611118 a owl:Class ; @@ -287760,13 +299161,14 @@ OMIM:611118 a owl:Class ; IAO:0000142 PMID:16956324, PMID:19864422, PMID:21367862 ; - oboInOwl:hasDbXref UMLS:C1422467 ; oboInOwl:hasExactSynonym "NARFL", "iron-only hydrogenase-like protein 1", "nuclear prelamin a recognition factor-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64428 ; - skos:exactMatch HGNC_symbol:CIAO3 ; + skos:exactMatch UMLS:C1422467, + HGNC:14179, + HGNC_symbol:CIAO3 ; biolink:category biolink:Gene . OMIM:611119 a owl:Class ; @@ -287782,68 +299184,73 @@ OMIM:611119 a owl:Class ; PMID:30300710 ; RO:0002525 CHR:9606chr7p15.3 ; RO:0003303 OMIM:612943 ; - oboInOwl:hasDbXref UMLS:C1423635, - UMLS:C2751986, - UMLS:C4310742 ; oboInOwl:hasExactSynonym "KLHL7", "kelch-like 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55975 ; - skos:exactMatch HGNC_symbol:KLHL7 ; + skos:exactMatch UMLS:C1423635, + UMLS:C2751986, + UMLS:C4310742, + HGNC:15646, + HGNC_symbol:KLHL7 ; biolink:category biolink:Gene . OMIM:611120 a owl:Class ; rdfs:label "SPTLC3" ; IAO:0000142 PMID:17023427, PMID:19416851 ; - oboInOwl:hasDbXref UMLS:C1823121 ; oboInOwl:hasExactSynonym "SPTLC3", "lcb2b", "serine palmitoyltransferase, long-chain base subunit 3", "sptlc2l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55304 ; - skos:exactMatch HGNC_symbol:SPTLC3 ; + skos:exactMatch UMLS:C1823121, + HGNC:16253, + HGNC_symbol:SPTLC3 ; biolink:category biolink:Gene . OMIM:611121 a owl:Class ; rdfs:label "CLMN" ; IAO:0000142 PMID:10574461, PMID:11386753 ; - oboInOwl:hasDbXref UMLS:C1426573 ; oboInOwl:hasExactSynonym "CLMN", "calmin", "calponin-line transmembrane domain protein", "kiaa1188" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79789 ; - skos:exactMatch HGNC_symbol:CLMN ; + skos:exactMatch UMLS:C1426573, + HGNC:19972, + HGNC_symbol:CLMN ; biolink:category biolink:Gene . OMIM:611122 a owl:Class ; rdfs:label "ANKRD28" ; IAO:0000142 PMID:16564677, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1428778 ; oboInOwl:hasExactSynonym "ANKRD28", "ankyrin repeat domain-containing protein 28", "kiaa0379", "phosphatase interactor targeting k protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23243 ; - skos:exactMatch HGNC_symbol:ANKRD28 ; + skos:exactMatch UMLS:C1428778, + HGNC:29024, + HGNC_symbol:ANKRD28 ; biolink:category biolink:Gene . OMIM:611123 a owl:Class ; rdfs:label "EPHA10" ; IAO:0000142 PMID:11114734, PMID:15777695 ; - oboInOwl:hasDbXref UMLS:C1539363 ; oboInOwl:hasExactSynonym "EPHA10", "ephrin receptor epha10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284656 ; - skos:exactMatch HGNC_symbol:EPHA10 ; + skos:exactMatch UMLS:C1539363, + HGNC:19987, + HGNC_symbol:EPHA10 ; biolink:category biolink:Gene . OMIM:611124 a owl:Class ; @@ -287860,104 +299267,112 @@ OMIM:611124 a owl:Class ; PMID:31597037 ; RO:0002525 CHR:9606chr4q28.2 ; RO:0003303 OMIM:616170 ; - oboInOwl:hasDbXref UMLS:C1838571, - UMLS:C1970174, - UMLS:C4015371 ; oboInOwl:hasExactSynonym "MFSD8", "major facilitator superfamily domain-containing protein 8", "mgc33302" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256471 ; - skos:exactMatch HGNC_symbol:MFSD8 ; + skos:exactMatch UMLS:C1838571, + UMLS:C1970174, + UMLS:C4015371, + HGNC:28486, + HGNC_symbol:MFSD8 ; biolink:category biolink:Gene . OMIM:611125 a owl:Class ; rdfs:label "DSEL" ; IAO:0000142 PMID:12556911, PMID:16505484 ; - oboInOwl:hasDbXref UMLS:C1425342 ; oboInOwl:hasExactSynonym "DSEL", "chromosome 18 open reading frame 4", "dermatan sulfate epimerase-like", "ncag1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92126 ; - skos:exactMatch HGNC_symbol:DSEL ; + skos:exactMatch UMLS:C1425342, + HGNC:18144, + HGNC_symbol:DSEL ; biolink:category biolink:Gene . OMIM:611127 a owl:Class ; rdfs:label "UBL4B" ; IAO:0000142 PMID:16872915 ; - oboInOwl:hasDbXref UMLS:C1823580 ; oboInOwl:hasExactSynonym "UBL4B", "ubiquitin-like 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:164153 ; - skos:exactMatch HGNC_symbol:UBL4B ; + skos:exactMatch UMLS:C1823580, + HGNC:32309, + HGNC_symbol:UBL4B ; biolink:category biolink:Gene . OMIM:611128 a owl:Class ; rdfs:label "MDGA2" ; IAO:0000142 PMID:15019943 ; - oboInOwl:hasDbXref UMLS:C1426462 ; oboInOwl:hasExactSynonym "MDGA2", "mam domain-containing glycosylphosphatidylinositol anchor 2", "mam domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161357 ; - skos:exactMatch HGNC_symbol:MDGA2 ; + skos:exactMatch UMLS:C1426462, + HGNC:19835, + HGNC_symbol:MDGA2 ; biolink:category biolink:Gene . OMIM:611129 a owl:Class ; rdfs:label "WBP1L" ; IAO:0000142 PMID:16709928 ; - oboInOwl:hasDbXref UMLS:C1428113 ; oboInOwl:hasExactSynonym "WBP1L", "chromosome 10 open reading frame 26", "opal1", "ww domain-binding protein 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54838 ; - skos:exactMatch HGNC_symbol:WBP1L ; + skos:exactMatch UMLS:C1428113, + HGNC:23510, + HGNC_symbol:WBP1L ; biolink:category biolink:Gene . OMIM:611130 a owl:Class ; rdfs:label "CHMP7" ; IAO:0000142 PMID:16856878, PMID:32494070 ; - oboInOwl:hasDbXref UMLS:C1538462 ; oboInOwl:hasExactSynonym "CHMP7", "charged multivesicular body protein 7", "chmp family, member 7", "chromatin-modifying protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91782 ; - skos:exactMatch HGNC_symbol:CHMP7 ; + skos:exactMatch UMLS:C1538462, + HGNC:28439, + HGNC_symbol:CHMP7 ; biolink:category biolink:Gene . OMIM:611132 a owl:Class ; rdfs:label "RBKS" ; IAO:0000142 PMID:6288103, PMID:8382990 ; - oboInOwl:hasDbXref UMLS:C1428961 ; oboInOwl:hasExactSynonym "RBKS", "ribokinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64080 ; - skos:exactMatch HGNC_symbol:RBKS ; + skos:exactMatch UMLS:C1428961, + HGNC:30325, + HGNC_symbol:RBKS ; biolink:category biolink:Gene . OMIM:611133 a owl:Class ; rdfs:label "SNORD82" ; IAO:0000142 PMID:10524220 ; - oboInOwl:hasDbXref UMLS:C1822991 ; oboInOwl:hasExactSynonym "SNORD82", "rna, u82 small nucleolar", "small nucleolar rna, c/d box, 82", "snorna, u82" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25826 ; - skos:exactMatch HGNC_symbol:SNORD82 ; + skos:exactMatch UMLS:C1822991, + HGNC:10240, + HGNC_symbol:SNORD82 ; biolink:category biolink:Gene . OMIM:611134 a owl:Class ; @@ -287965,13 +299380,13 @@ OMIM:611134 a owl:Class ; IAO:0000142 PMID:17160906, PMID:17564974, PMID:17705300 ; - oboInOwl:hasDbXref UMLS:C1970161, - UMLS:C1970162 ; oboInOwl:hasExactSynonym "MKS4", "meckel syndrome, iia 4", "meckel-gruber syndrome, iia 4", "meckel-like cerebrorenodigital syndrome" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C1970161, + UMLS:C1970162 ; biolink:category biolink:Disease . OMIM:611135 a owl:Class ; @@ -287980,26 +299395,28 @@ OMIM:611135 a owl:Class ; PMID:16075061, PMID:17452648, PMID:29342135 ; - oboInOwl:hasDbXref UMLS:C1825715 ; oboInOwl:hasExactSynonym "KLB", "beta-klotho", "klotho, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152831 ; - skos:exactMatch HGNC_symbol:KLB ; + skos:exactMatch UMLS:C1825715, + HGNC:15527, + HGNC_symbol:KLB ; biolink:category biolink:Gene . OMIM:611137 a owl:Class ; rdfs:label "PSMB11" ; IAO:0000142 PMID:17540904 ; - oboInOwl:hasDbXref UMLS:C1970159 ; oboInOwl:hasExactSynonym "PSMB11", "proteasome subunit beta-5t", "proteasome subunit, beta-5 family, thymus-specific", "proteasome subunit, beta-type, 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122706 ; - skos:exactMatch HGNC_symbol:PSMB11 ; + skos:exactMatch UMLS:C1970159, + HGNC:31963, + HGNC_symbol:PSMB11 ; biolink:category biolink:Gene . OMIM:611138 a owl:Class ; @@ -288008,14 +299425,15 @@ OMIM:611138 a owl:Class ; PMID:11336498, PMID:7744952, PMID:9674995 ; - oboInOwl:hasDbXref UMLS:C1424300 ; oboInOwl:hasExactSynonym "STRBP", "p74, rat, homolog of", "spermatid perinuclear rna-binding protein", "spnr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55342 ; - skos:exactMatch HGNC_symbol:STRBP ; + skos:exactMatch UMLS:C1424300, + HGNC:16462, + HGNC_symbol:STRBP ; biolink:category biolink:Gene . OMIM:611140 a owl:Class ; @@ -288029,7 +299447,6 @@ OMIM:611140 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:616954 ; - oboInOwl:hasDbXref UMLS:C1823263 ; oboInOwl:hasExactSynonym "TELO2", "clk2, c. elegans, homolog of", "hclk2", @@ -288039,7 +299456,9 @@ OMIM:611140 a owl:Class ; "telomere maintenance 2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9894 ; - skos:exactMatch HGNC_symbol:TELO2 ; + skos:exactMatch UMLS:C1823263, + HGNC:29099, + HGNC_symbol:TELO2 ; biolink:category biolink:Gene . OMIM:611141 a owl:Class ; @@ -288051,15 +299470,16 @@ OMIM:611141 a owl:Class ; PMID:16715130, PMID:22711003, PMID:28013292 ; - oboInOwl:hasDbXref UMLS:C1537693, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "MIB2", "mindbomb e3 ubiquitin protein ligase 2", "mindbomb, drosophila, homolog of, 2", "skeletrophin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142678 ; - skos:exactMatch HGNC_symbol:MIB2 ; + skos:exactMatch UMLS:C1537693, + UMLS:C2986382, + HGNC:30577, + HGNC_symbol:MIB2 ; biolink:category biolink:Gene . OMIM:611142 a owl:Class ; @@ -288068,7 +299488,6 @@ OMIM:611142 a owl:Class ; PMID:12569123, PMID:18191222, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1824740 ; oboInOwl:hasExactSynonym "CKAP5", "colonic and hepatic tumor overexpressed gene", "cytoskeleton-associated protein 5", @@ -288076,13 +299495,14 @@ OMIM:611142 a owl:Class ; "mini spindles, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9793 ; - skos:exactMatch HGNC_symbol:CKAP5 ; + skos:exactMatch UMLS:C1824740, + HGNC:28959, + HGNC_symbol:CKAP5 ; biolink:category biolink:Gene . OMIM:611143 a owl:Class ; rdfs:label "ABRAXAS1" ; IAO:0000142 PMID:17525340 ; - oboInOwl:hasDbXref UMLS:C1970157 ; oboInOwl:hasExactSynonym "ABRAXAS1", "abraxas", "abraxas 1, brca1 a complex subunit", @@ -288090,14 +299510,15 @@ OMIM:611143 a owl:Class ; "family with sequence similarity 175, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84142 ; - skos:exactMatch HGNC_symbol:ABRAXAS1 ; + skos:exactMatch UMLS:C1970157, + HGNC:25829, + HGNC_symbol:ABRAXAS1 ; biolink:category biolink:Gene . OMIM:611144 a owl:Class ; rdfs:label "ABRAXAS2" ; IAO:0000142 PMID:17525340, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1970995 ; oboInOwl:hasExactSynonym "ABRAXAS2", "abraxas 2, brisc complex subunit", "abraxas brother 1", @@ -288105,7 +299526,9 @@ OMIM:611144 a owl:Class ; "kiaa0157" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23172 ; - skos:exactMatch HGNC_symbol:ABRAXAS2 ; + skos:exactMatch UMLS:C1970995, + HGNC:28975, + HGNC_symbol:ABRAXAS2 ; biolink:category biolink:Gene . OMIM:611145 a owl:Class ; @@ -288124,15 +299547,16 @@ OMIM:611145 a owl:Class ; PMID:31676859 ; RO:0002525 CHR:9606chr8q24.11 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1426844, - UMLS:C3837967, - UMLS:C4017238 ; oboInOwl:hasExactSynonym "SLC30A8", "solute carrier family 30 (zinc transporter), member 8", "zinc transporter 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:169026 ; - skos:exactMatch HGNC_symbol:SLC30A8 ; + skos:exactMatch UMLS:C1426844, + UMLS:C3837967, + UMLS:C4017238, + HGNC:20303, + HGNC_symbol:SLC30A8 ; biolink:category biolink:Gene . OMIM:611146 a owl:Class ; @@ -288147,14 +299571,15 @@ OMIM:611146 a owl:Class ; PMID:31527311 ; RO:0002525 CHR:9606chr1q41 ; RO:0003303 OMIM:613280 ; - oboInOwl:hasDbXref UMLS:C1822757, - UMLS:C2750442 ; oboInOwl:hasExactSynonym "SLC30A10", "solute carrier family 30 (zinc transporter), member 10", "zinc transporter 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55532 ; - skos:exactMatch HGNC_symbol:SLC30A10 ; + skos:exactMatch UMLS:C1822757, + UMLS:C2750442, + HGNC:25355, + HGNC_symbol:SLC30A10 ; biolink:category biolink:Gene . OMIM:611148 a owl:Class ; @@ -288162,13 +299587,14 @@ OMIM:611148 a owl:Class ; IAO:0000142 PMID:11997387, PMID:15154973, PMID:15994300 ; - oboInOwl:hasDbXref UMLS:C1426152 ; oboInOwl:hasExactSynonym "SLC30A6", "solute carrier family 30 (zinc transporter), member 6", "zinc transporter 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55676 ; - skos:exactMatch HGNC_symbol:SLC30A6 ; + skos:exactMatch UMLS:C1426152, + HGNC:19305, + HGNC_symbol:SLC30A6 ; biolink:category biolink:Gene . OMIM:611149 a owl:Class ; @@ -288176,13 +299602,14 @@ OMIM:611149 a owl:Class ; IAO:0000142 PMID:12446736, PMID:15154973, PMID:15994300 ; - oboInOwl:hasDbXref UMLS:C1426153 ; oboInOwl:hasExactSynonym "SLC30A7", "solute carrier family 30 (zinc transporter), member 7", "zinc transporter 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148867 ; - skos:exactMatch HGNC_symbol:SLC30A7 ; + skos:exactMatch UMLS:C1426153, + HGNC:19306, + HGNC_symbol:SLC30A7 ; biolink:category biolink:Gene . OMIM:611150 a owl:Class ; @@ -288195,26 +299622,28 @@ OMIM:611150 a owl:Class ; PMID:23443018 ; RO:0002525 CHR:9606chr22q13.31 ; RO:0003303 OMIM:603516 ; - oboInOwl:hasDbXref UMLS:C1538308 ; oboInOwl:hasExactSynonym "ATXN10", "ataxin 10", "e46-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25814 ; - skos:exactMatch HGNC_symbol:ATXN10 ; + skos:exactMatch UMLS:C1538308, + HGNC:10549, + HGNC_symbol:ATXN10 ; biolink:category biolink:Gene . OMIM:611151 a owl:Class ; rdfs:label "TRMT2A" ; IAO:0000142 PMID:9224656 ; - oboInOwl:hasDbXref UMLS:C1970148 ; oboInOwl:hasExactSynonym "TRMT2A", "hpaii tiny fragments locus 9c", "trna methyltransferase 2 homolog a", "trna methyltransferase 2, s. cerevisiae, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27037 ; - skos:exactMatch HGNC_symbol:TRMT2A ; + skos:exactMatch UMLS:C1970148, + HGNC:24974, + HGNC_symbol:TRMT2A ; biolink:category biolink:Gene . OMIM:611153 a owl:Class ; @@ -288260,14 +299689,15 @@ OMIM:611153 a owl:Class ; PMID:9671271 ; RO:0002525 CHR:9606chr9q22.33 ; RO:0003303 OMIM:278700 ; - oboInOwl:hasDbXref UMLS:C1337030 ; oboInOwl:hasExactSynonym "XPA", "xpa complementing gene", "xpa gene", "xpa, DNA damage recognition and repair factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7507 ; - skos:exactMatch HGNC_symbol:XPA ; + skos:exactMatch UMLS:C1337030, + HGNC:12814, + HGNC_symbol:XPA ; biolink:category biolink:Gene . OMIM:611155 a owl:Class ; @@ -288279,33 +299709,34 @@ OMIM:611156 a owl:Class ; rdfs:label "ERMP1" ; IAO:0000142 PMID:11347906, PMID:17267443 ; - oboInOwl:hasDbXref UMLS:C1428205 ; oboInOwl:hasExactSynonym "ERMP1", "endoplasmic reticulum metallopeptidase 1", "fxna, rat, homolog of", "kiaa1815" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79956 ; - skos:exactMatch HGNC_symbol:ERMP1 ; + skos:exactMatch UMLS:C1428205, + HGNC:23703, + HGNC_symbol:ERMP1 ; biolink:category biolink:Gene . OMIM:611157 a owl:Class ; rdfs:label "MRGBP" ; IAO:0000142 PMID:12963728 ; - oboInOwl:hasDbXref UMLS:C1423788 ; oboInOwl:hasExactSynonym "MRGBP", "chromosome 20 open reading frame 20", "mrg/morf4l-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55257 ; - skos:exactMatch HGNC_symbol:MRGBP ; + skos:exactMatch UMLS:C1423788, + HGNC:15866, + HGNC_symbol:MRGBP ; biolink:category biolink:Gene . OMIM:611158 a owl:Class ; rdfs:label "KRT77" ; IAO:0000142 PMID:15737194, PMID:16117782 ; - oboInOwl:hasDbXref UMLS:C1825765 ; oboInOwl:hasExactSynonym "KRT77", "k77", "kb39", @@ -288313,13 +299744,14 @@ OMIM:611158 a owl:Class ; "keratin 77, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374454 ; - skos:exactMatch HGNC_symbol:KRT77 ; + skos:exactMatch UMLS:C1825765, + HGNC:20411, + HGNC_symbol:KRT77 ; biolink:category biolink:Gene . OMIM:611159 a owl:Class ; rdfs:label "KRT78" ; IAO:0000142 PMID:15737194 ; - oboInOwl:hasDbXref UMLS:C1825766 ; oboInOwl:hasExactSynonym "KRT78", "k78", "kb40", @@ -288327,13 +299759,14 @@ OMIM:611159 a owl:Class ; "keratin 78, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196374 ; - skos:exactMatch HGNC_symbol:KRT78 ; + skos:exactMatch UMLS:C1825766, + HGNC:28926, + HGNC_symbol:KRT78 ; biolink:category biolink:Gene . OMIM:611160 a owl:Class ; rdfs:label "KRT79" ; IAO:0000142 PMID:15737194 ; - oboInOwl:hasDbXref UMLS:C1970031 ; oboInOwl:hasExactSynonym "KRT79", "k79", "kb38", @@ -288341,33 +299774,37 @@ OMIM:611160 a owl:Class ; "keratin 79, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338785 ; - skos:exactMatch HGNC_symbol:KRT79 ; + skos:exactMatch UMLS:C1970031, + HGNC:28930, + HGNC_symbol:KRT79 ; biolink:category biolink:Gene . OMIM:611161 a owl:Class ; rdfs:label "KRT80" ; IAO:0000142 PMID:15737194 ; - oboInOwl:hasDbXref UMLS:C1825767 ; oboInOwl:hasExactSynonym "KRT80", "k80", "keratin 80, iia 2", "keratin b20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144501 ; - skos:exactMatch HGNC_symbol:KRT80 ; + skos:exactMatch UMLS:C1825767, + HGNC:27056, + HGNC_symbol:KRT80 ; biolink:category biolink:Gene . OMIM:611163 a owl:Class ; rdfs:label "TOX2" ; IAO:0000142 PMID:14764631 ; - oboInOwl:hasDbXref UMLS:C1423976 ; oboInOwl:hasExactSynonym "TOX2", "chromosome 20 open reading frame 100", "granulosa cell hmg-box protein 1", "tox high mobility group box family member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84969 ; - skos:exactMatch HGNC_symbol:TOX2 ; + skos:exactMatch UMLS:C1423976, + HGNC:16095, + HGNC_symbol:TOX2 ; biolink:category biolink:Gene . OMIM:611164 a owl:Class ; @@ -288375,12 +299812,13 @@ OMIM:611164 a owl:Class ; IAO:0000142 PMID:17005330, PMID:26360614, PMID:27412763 ; - oboInOwl:hasDbXref UMLS:C1824195 ; oboInOwl:hasExactSynonym "ARGFX", "arginine-fifty homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:503582 ; - skos:exactMatch HGNC_symbol:ARGFX ; + skos:exactMatch UMLS:C1824195, + HGNC:30146, + HGNC_symbol:ARGFX ; biolink:category biolink:Gene . OMIM:611165 a owl:Class ; @@ -288388,35 +299826,38 @@ OMIM:611165 a owl:Class ; IAO:0000142 PMID:17005330, PMID:26360614, PMID:27412763 ; - oboInOwl:hasDbXref UMLS:C1824964 ; oboInOwl:hasExactSynonym "DPRX", "divergent-paired related homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:503834 ; - skos:exactMatch HGNC_symbol:DPRX ; + skos:exactMatch UMLS:C1824964, + HGNC:32166, + HGNC_symbol:DPRX ; biolink:category biolink:Gene . OMIM:611166 a owl:Class ; rdfs:label "TPRX1" ; IAO:0000142 PMID:17005330, PMID:27412763 ; - oboInOwl:hasDbXref UMLS:C1823470 ; oboInOwl:hasExactSynonym "TPRX1", "tetrapeptide repeat homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284355 ; - skos:exactMatch HGNC_symbol:TPRX1 ; + skos:exactMatch UMLS:C1823470, + HGNC:32174, + HGNC_symbol:TPRX1 ; biolink:category biolink:Gene . OMIM:611167 a owl:Class ; rdfs:label "TPRXL" ; IAO:0000142 PMID:17005330 ; - oboInOwl:hasDbXref UMLS:C1823474 ; oboInOwl:hasExactSynonym "TPRXL", "tetrapeptide repeat homeobox-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348825 ; - skos:exactMatch HGNC_symbol:TPRXL ; + skos:exactMatch UMLS:C1823474, + HGNC:32178, + HGNC_symbol:TPRXL ; biolink:category biolink:Gene . OMIM:611168 a owl:Class ; @@ -288424,26 +299865,28 @@ OMIM:611168 a owl:Class ; IAO:0000142 PMID:17005330, PMID:26360614, PMID:27412763 ; - oboInOwl:hasDbXref UMLS:C1824994 ; oboInOwl:hasExactSynonym "DUXA", "double homeobox a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:503835 ; - skos:exactMatch HGNC_symbol:DUXA ; + skos:exactMatch UMLS:C1824994, + HGNC:32179, + HGNC_symbol:DUXA ; biolink:category biolink:Gene . OMIM:611169 a owl:Class ; rdfs:label "CATSPERB" ; IAO:0000142 PMID:17478420, PMID:20551230 ; - oboInOwl:hasDbXref UMLS:C1426973 ; oboInOwl:hasExactSynonym "CATSPERB", "cation channel, sperm-associated, auxiliary subunit beta", "catsper-beta", "chromosome 14 open reading frame 161" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79820 ; - skos:exactMatch HGNC_symbol:CATSPERB ; + skos:exactMatch UMLS:C1426973, + HGNC:20500, + HGNC_symbol:CATSPERB ; biolink:category biolink:Gene . OMIM:611170 a owl:Class ; @@ -288460,14 +299903,15 @@ OMIM:611170 a owl:Class ; PMID:30322869 ; RO:0002525 CHR:9606chr7q21.2 ; RO:0003303 OMIM:619806 ; - oboInOwl:hasDbXref UMLS:C1327919, - UMLS:C1826970, - UMLS:C5435704 ; oboInOwl:hasExactSynonym "SAMD9L", "sterile alpha motif domain-containing protein 9-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219285 ; - skos:exactMatch HGNC_symbol:SAMD9L ; + skos:exactMatch UMLS:C1327919, + UMLS:C1826970, + UMLS:C5435704, + HGNC:1349, + HGNC_symbol:SAMD9L ; biolink:category biolink:Gene . OMIM:611171 a owl:Class ; @@ -288475,13 +299919,14 @@ OMIM:611171 a owl:Class ; IAO:0000142 PMID:10997877, PMID:17030985, PMID:30733148 ; - oboInOwl:hasDbXref UMLS:C1428834 ; oboInOwl:hasExactSynonym "SHTN1", "kiaa1598", "shootin1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57698 ; - skos:exactMatch HGNC_symbol:SHTN1 ; + skos:exactMatch UMLS:C1428834, + HGNC:29319, + HGNC_symbol:SHTN1 ; biolink:category biolink:Gene . OMIM:611172 a owl:Class ; @@ -288503,54 +299948,58 @@ OMIM:611172 a owl:Class ; PMID:25043055, PMID:28082412, PMID:32051587 ; - oboInOwl:hasDbXref UMLS:C1537745 ; oboInOwl:hasExactSynonym "MIR34A", "micro RNA 34a", "mirn34a", "mirna34a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407040 ; - skos:exactMatch HGNC_symbol:MIR34A ; + skos:exactMatch UMLS:C1537745, + HGNC:31635, + HGNC_symbol:MIR34A ; biolink:category biolink:Gene . OMIM:611173 a owl:Class ; rdfs:label "MIR375" ; IAO:0000142 PMID:15538371, PMID:19289822 ; - oboInOwl:hasDbXref UMLS:C1537896 ; oboInOwl:hasExactSynonym "MIR375", "micro RNA 375", "mirn375", "mirna375" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494324 ; - skos:exactMatch HGNC_symbol:MIR375 ; + skos:exactMatch UMLS:C1537896, + HGNC:31868, + HGNC_symbol:MIR375 ; biolink:category biolink:Gene . OMIM:611175 a owl:Class ; rdfs:label "OLA1" ; IAO:0000142 PMID:17430889, PMID:27481995 ; - oboInOwl:hasDbXref UMLS:C1825430 ; oboInOwl:hasExactSynonym "OLA1", "gtp-binding protein 9", "obg-like atpase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29789 ; - skos:exactMatch HGNC_symbol:OLA1 ; + skos:exactMatch UMLS:C1825430, + HGNC:28833, + HGNC_symbol:OLA1 ; biolink:category biolink:Gene . OMIM:611176 a owl:Class ; rdfs:label "JKAMP" ; IAO:0000142 PMID:16166642 ; - oboInOwl:hasDbXref UMLS:C1426757 ; oboInOwl:hasExactSynonym "JKAMP", "chromosome 14 open reading frame 100", "jnk/mapk8-associated membrane protein", "jnk1-associated membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51528 ; - skos:exactMatch HGNC_symbol:JKAMP ; + skos:exactMatch UMLS:C1426757, + HGNC:20184, + HGNC_symbol:JKAMP ; biolink:category biolink:Gene . OMIM:611177 a owl:Class ; @@ -288564,9 +300013,6 @@ OMIM:611177 a owl:Class ; PMID:30767363 ; RO:0002525 CHR:9606chr3q25.33 ; RO:0003303 OMIM:611263 ; - oboInOwl:hasDbXref UMLS:C1825570, - UMLS:C4017239, - UMLS:C4017240 ; oboInOwl:hasExactSynonym "IFT80", "intraflagellar transport 80", "intraflagellar transport 80, chlamydomonas, homolog of", @@ -288574,14 +300020,17 @@ OMIM:611177 a owl:Class ; "wd repeat-containing protein 56" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57560 ; - skos:exactMatch HGNC_symbol:IFT80 ; + skos:exactMatch UMLS:C1825570, + UMLS:C4017239, + UMLS:C4017240, + HGNC:29262, + HGNC_symbol:IFT80 ; biolink:category biolink:Gene . OMIM:611178 a owl:Class ; rdfs:label "GALP" ; IAO:0000142 PMID:10601261, PMID:17535903 ; - oboInOwl:hasDbXref UMLS:C1970023 ; oboInOwl:hasExactSynonym "GALP", "alarin", "galanin-like peptide", @@ -288589,7 +300038,9 @@ OMIM:611178 a owl:Class ; "galp precursor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85569 ; - skos:exactMatch HGNC_symbol:GALP ; + skos:exactMatch UMLS:C1970023, + HGNC:24840, + HGNC_symbol:GALP ; biolink:category biolink:Gene . OMIM:611179 a owl:Class ; @@ -288598,14 +300049,15 @@ OMIM:611179 a owl:Class ; PMID:1334959, PMID:16615870, PMID:17329357 ; - oboInOwl:hasDbXref UMLS:C1822719 ; oboInOwl:hasExactSynonym "SHROOM1", "apxl2", "kiaa1960", "shroom family member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134549 ; - skos:exactMatch HGNC_symbol:SHROOM1 ; + skos:exactMatch UMLS:C1822719, + HGNC:24084, + HGNC_symbol:SHROOM1 ; biolink:category biolink:Gene . OMIM:611180 a owl:Class ; @@ -288613,7 +300065,6 @@ OMIM:611180 a owl:Class ; IAO:0000142 PMID:10574461, PMID:11739404, PMID:12612062 ; - oboInOwl:hasDbXref UMLS:C1970022 ; oboInOwl:hasExactSynonym "NELFB", "cofactor of brca1", "kiaa1182", @@ -288621,19 +300072,22 @@ OMIM:611180 a owl:Class ; "negative elongation factor polypeptide B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25920 ; - skos:exactMatch HGNC_symbol:NELFB ; + skos:exactMatch UMLS:C1970022, + HGNC:24324, + HGNC_symbol:NELFB ; biolink:category biolink:Gene . OMIM:611181 a owl:Class ; rdfs:label "ACAD10" ; IAO:0000142 PMID:15560374, PMID:21237683 ; - oboInOwl:hasDbXref UMLS:C1427635 ; oboInOwl:hasExactSynonym "ACAD10", "acyl-coa dehydrogenase family, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80724 ; - skos:exactMatch HGNC_symbol:ACAD10 ; + skos:exactMatch UMLS:C1427635, + HGNC:21597, + HGNC_symbol:ACAD10 ; biolink:category biolink:Gene . OMIM:611183 a owl:Class ; @@ -288644,7 +300098,6 @@ OMIM:611183 a owl:Class ; PMID:17311301, PMID:19280651, PMID:23939472 ; - oboInOwl:hasDbXref UMLS:C1427880 ; oboInOwl:hasExactSynonym "BRK1", "brick1", "brick1, scar/wave actin-nucleating complex subunit", @@ -288652,7 +300105,9 @@ OMIM:611183 a owl:Class ; "hspc300" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55845 ; - skos:exactMatch HGNC_symbol:BRK1 ; + skos:exactMatch UMLS:C1427880, + HGNC:23057, + HGNC_symbol:BRK1 ; biolink:category biolink:Gene . OMIM:611184 a owl:Class ; @@ -288687,18 +300142,19 @@ OMIM:611184 a owl:Class ; PMID:9827909 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:616843 ; - oboInOwl:hasDbXref UMLS:C0272051, - UMLS:C1539428, - UMLS:C4017241, - UMLS:C4017242, - UMLS:C4749121 ; oboInOwl:hasExactSynonym "PIEZO1", "family with sequence similarity 38, member a", "membrane protein induced by beta-amyloid treatment", "piezo-type mechanosensitive ion channel component 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9780 ; - skos:exactMatch HGNC_symbol:PIEZO1 ; + skos:exactMatch UMLS:C0272051, + UMLS:C1539428, + UMLS:C4017241, + UMLS:C4017242, + UMLS:C4749121, + HGNC:28993, + HGNC_symbol:PIEZO1 ; biolink:category biolink:Gene . OMIM:611186 a owl:Class ; @@ -288711,14 +300167,15 @@ OMIM:611186 a owl:Class ; PMID:22308344, PMID:24052309, PMID:24360277 ; - oboInOwl:hasDbXref UMLS:C1537704 ; oboInOwl:hasExactSynonym "MIR9-1", "micro RNA 9-1", "mirn9-1", "mirna9-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407046 ; - skos:exactMatch HGNC_symbol:MIR9-1 ; + skos:exactMatch UMLS:C1537704, + HGNC:31641, + HGNC_symbol:MIR9-1 ; biolink:category biolink:Gene . OMIM:611187 a owl:Class ; @@ -288727,14 +300184,15 @@ OMIM:611187 a owl:Class ; PMID:16039986, PMID:17483472, PMID:25209608 ; - oboInOwl:hasDbXref UMLS:C1537705 ; oboInOwl:hasExactSynonym "MIR9-2", "micro RNA 9-2", "mirn9-2", "mirna9-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407047 ; - skos:exactMatch HGNC_symbol:MIR9-2 ; + skos:exactMatch UMLS:C1537705, + HGNC:31642, + HGNC_symbol:MIR9-2 ; biolink:category biolink:Gene . OMIM:611188 a owl:Class ; @@ -288742,14 +300200,15 @@ OMIM:611188 a owl:Class ; IAO:0000142 PMID:12007417, PMID:17483472, PMID:20173740 ; - oboInOwl:hasDbXref UMLS:C1537706 ; oboInOwl:hasExactSynonym "MIR9-3", "micro RNA 9-3", "mirn9-3", "mirna9-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407051 ; - skos:exactMatch HGNC_symbol:MIR9-3 ; + skos:exactMatch UMLS:C1537706, + HGNC:31646, + HGNC_symbol:MIR9-3 ; biolink:category biolink:Gene . OMIM:611189 a owl:Class ; @@ -288757,28 +300216,30 @@ OMIM:611189 a owl:Class ; IAO:0000142 PMID:12554859, PMID:16822819, PMID:18270258 ; - oboInOwl:hasDbXref UMLS:C1537833 ; oboInOwl:hasExactSynonym "MIR197", "micro RNA 197", "mirn197", "mirna197" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406974 ; - skos:exactMatch HGNC_symbol:MIR197 ; + skos:exactMatch UMLS:C1537833, + HGNC:31569, + HGNC_symbol:MIR197 ; biolink:category biolink:Gene . OMIM:611190 a owl:Class ; rdfs:label "MIR346" ; IAO:0000142 PMID:12554859, PMID:16822819 ; - oboInOwl:hasDbXref UMLS:C1537886 ; oboInOwl:hasExactSynonym "MIR346", "micro RNA 346", "mirn346", "mirna346" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442911 ; - skos:exactMatch HGNC_symbol:MIR346 ; + skos:exactMatch UMLS:C1537886, + HGNC:31780, + HGNC_symbol:MIR346 ; biolink:category biolink:Gene . OMIM:611191 a owl:Class ; @@ -288786,14 +300247,15 @@ OMIM:611191 a owl:Class ; IAO:0000142 PMID:12007417, PMID:17400653, PMID:17483472 ; - oboInOwl:hasDbXref UMLS:C1537770 ; oboInOwl:hasExactSynonym "MIR125A", "micro RNA 125a", "mirn125a", "mirna125a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406910 ; - skos:exactMatch HGNC_symbol:MIR125A ; + skos:exactMatch UMLS:C1537770, + HGNC:31505, + HGNC_symbol:MIR125A ; biolink:category biolink:Gene . OMIM:611192 a owl:Class ; @@ -288806,7 +300268,6 @@ OMIM:611192 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:148050 ; - oboInOwl:hasDbXref UMLS:C1427487 ; oboInOwl:hasExactSynonym "ANKRD11", "ankyrin repeat domain-containing protein 11", "ankyrin repeat-containing cofactor 1", @@ -288815,19 +300276,22 @@ OMIM:611192 a owl:Class ; "t13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29123 ; - skos:exactMatch HGNC_symbol:ANKRD11 ; + skos:exactMatch UMLS:C1427487, + HGNC:21316, + HGNC_symbol:ANKRD11 ; biolink:category biolink:Gene . OMIM:611193 a owl:Class ; rdfs:label "RRP15" ; IAO:0000142 PMID:15769876 ; - oboInOwl:hasDbXref UMLS:C1970019 ; oboInOwl:hasExactSynonym "RRP15", "ribosomal rna-processing 15 homolog", "ribosomal rna-processing 15, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51018 ; - skos:exactMatch HGNC_symbol:RRP15 ; + skos:exactMatch UMLS:C1970019, + HGNC:24255, + HGNC_symbol:RRP15 ; biolink:category biolink:Gene . OMIM:611194 a owl:Class ; @@ -288835,7 +300299,6 @@ OMIM:611194 a owl:Class ; IAO:0000142 PMID:10048485, PMID:17439943, PMID:31221560 ; - oboInOwl:hasDbXref UMLS:C1826955 ; oboInOwl:hasExactSynonym "RUFY3", "kiaa0871", "rap2-interacting protein 10", @@ -288843,7 +300306,9 @@ OMIM:611194 a owl:Class ; "single axon-related 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22902 ; - skos:exactMatch HGNC_symbol:RUFY3 ; + skos:exactMatch UMLS:C1826955, + HGNC:30285, + HGNC_symbol:RUFY3 ; biolink:category biolink:Gene . OMIM:611195 a owl:Class ; @@ -288851,14 +300316,15 @@ OMIM:611195 a owl:Class ; IAO:0000142 PMID:14718537, PMID:15277531, PMID:18941173 ; - oboInOwl:hasDbXref UMLS:C1825633 ; oboInOwl:hasExactSynonym "JAKMIP1", "jamip1", "janus kinase and microtubule-interacting protein 1", "multiple alpha helices and rna-linker protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152789 ; - skos:exactMatch HGNC_symbol:JAKMIP1 ; + skos:exactMatch UMLS:C1825633, + HGNC:26460, + HGNC_symbol:JAKMIP1 ; biolink:category biolink:Gene . OMIM:611196 a owl:Class ; @@ -288866,14 +300332,15 @@ OMIM:611196 a owl:Class ; IAO:0000142 PMID:11572484, PMID:16051670, PMID:18053775 ; - oboInOwl:hasDbXref UMLS:C1823957 ; oboInOwl:hasExactSynonym "ZMIZ2", "kiaa1886", "zimp7", "zinc finger miz-domain containing 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83637 ; - skos:exactMatch HGNC_symbol:ZMIZ2 ; + skos:exactMatch UMLS:C1823957, + HGNC:22229, + HGNC_symbol:ZMIZ2 ; biolink:category biolink:Gene . OMIM:611197 a owl:Class ; @@ -288881,7 +300348,6 @@ OMIM:611197 a owl:Class ; IAO:0000142 PMID:15277531, PMID:17572408, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1825634 ; oboInOwl:hasExactSynonym "JAKMIP2", "jamip2", "janus kinase and microtubule-interacting protein 2", @@ -288889,14 +300355,15 @@ OMIM:611197 a owl:Class ; "neuroendocrine long coiled-coil protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9832 ; - skos:exactMatch HGNC_symbol:JAKMIP2 ; + skos:exactMatch UMLS:C1825634, + HGNC:29067, + HGNC_symbol:JAKMIP2 ; biolink:category biolink:Gene . OMIM:611198 a owl:Class ; rdfs:label "JAKMIP3" ; IAO:0000142 PMID:15277531, PMID:17572408 ; - oboInOwl:hasDbXref UMLS:C1428122 ; oboInOwl:hasExactSynonym "JAKMIP3", "chromosome 10 open reading frame 39", "jamip3", @@ -288904,33 +300371,37 @@ OMIM:611198 a owl:Class ; "neuroendocrine long coiled-coil protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282973 ; - skos:exactMatch HGNC_symbol:JAKMIP3 ; + skos:exactMatch UMLS:C1428122, + HGNC:23523, + HGNC_symbol:JAKMIP3 ; biolink:category biolink:Gene . OMIM:611199 a owl:Class ; rdfs:label "DNTTIP2" ; IAO:0000142 PMID:15047147, PMID:16762320 ; - oboInOwl:hasDbXref UMLS:C1824955 ; oboInOwl:hasExactSynonym "DNTTIP2", "dntt-interacting protein 2", "estrogen receptor-binding protein", "fcf2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30836 ; - skos:exactMatch HGNC_symbol:DNTTIP2 ; + skos:exactMatch UMLS:C1824955, + HGNC:24013, + HGNC_symbol:DNTTIP2 ; biolink:category biolink:Gene . OMIM:611200 a owl:Class ; rdfs:label "TDRD6" ; IAO:0000142 PMID:17215373, PMID:28263986 ; - oboInOwl:hasDbXref UMLS:C1427493 ; oboInOwl:hasExactSynonym "TDRD6", "tudor domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221400 ; - skos:exactMatch HGNC_symbol:TDRD6 ; + skos:exactMatch UMLS:C1427493, + HGNC:21339, + HGNC_symbol:TDRD6 ; biolink:category biolink:Gene . OMIM:611201 a owl:Class ; @@ -288938,13 +300409,14 @@ OMIM:611201 a owl:Class ; IAO:0000142 PMID:10718198, PMID:15233997, PMID:17543862 ; - oboInOwl:hasDbXref UMLS:C1425746 ; oboInOwl:hasExactSynonym "KLHL9", "kelch-like 9", "kiaa1354" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55958 ; - skos:exactMatch HGNC_symbol:KLHL9 ; + skos:exactMatch UMLS:C1425746, + HGNC:18732, + HGNC_symbol:KLHL9 ; biolink:category biolink:Gene . OMIM:611202 a owl:Class ; @@ -288952,14 +300424,15 @@ OMIM:611202 a owl:Class ; IAO:0000142 PMID:10781606, PMID:11328816, PMID:17334805 ; - oboInOwl:hasDbXref UMLS:C1425831 ; oboInOwl:hasExactSynonym "ASAH2", "ceramidase, nonlysosomal", "n-acylsphingosine amidohydrolase 2", "nonlysosomal ceramidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56624 ; - skos:exactMatch HGNC_symbol:ASAH2 ; + skos:exactMatch UMLS:C1425831, + HGNC:18860, + HGNC_symbol:ASAH2 ; biolink:category biolink:Gene . OMIM:611203 a owl:Class ; @@ -288979,7 +300452,6 @@ OMIM:611203 a owl:Class ; PMID:8764987 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:162350 ; - oboInOwl:hasDbXref UMLS:C1424111 ; oboInOwl:hasExactSynonym "DNAJC5", "csp-alpha", "cysteine string protein", @@ -288987,7 +300459,9 @@ OMIM:611203 a owl:Class ; "dnaj/hsp40 homolog, subfamily c, member 5, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80331 ; - skos:exactMatch HGNC_symbol:DNAJC5 ; + skos:exactMatch UMLS:C1424111, + HGNC:16235, + HGNC_symbol:DNAJC5 ; biolink:category biolink:Gene . OMIM:611204 a owl:Class ; @@ -289001,7 +300475,6 @@ OMIM:611204 a owl:Class ; PMID:29225145 ; RO:0002525 CHR:9606chr14q32.11-q32.12 ; RO:0003303 OMIM:236600 ; - oboInOwl:hasDbXref UMLS:C1426569 ; oboInOwl:hasExactSynonym "CCDC88C", "coiled-coil domain-containing protein 88c", "daple", @@ -289009,7 +300482,9 @@ OMIM:611204 a owl:Class ; "kiaa1509" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440193 ; - skos:exactMatch HGNC_symbol:CCDC88C ; + skos:exactMatch UMLS:C1426569, + HGNC:19967, + HGNC_symbol:CCDC88C ; biolink:category biolink:Gene . OMIM:611205 a owl:Class ; @@ -289018,14 +300493,15 @@ OMIM:611205 a owl:Class ; PMID:17185515, PMID:21289099, PMID:25403443 ; - oboInOwl:hasDbXref UMLS:C1970017 ; oboInOwl:hasExactSynonym "CCDC88B", "coiled-coil domain-containing protein 88b", "gpr78-interacting protein induced by endoplasmic reticulum stress", "hook-related protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283234 ; - skos:exactMatch HGNC_symbol:CCDC88B ; + skos:exactMatch UMLS:C1970017, + HGNC:26757, + HGNC_symbol:CCDC88B ; biolink:category biolink:Gene . OMIM:611206 a owl:Class ; @@ -289033,40 +300509,43 @@ OMIM:611206 a owl:Class ; IAO:0000142 PMID:10231032, PMID:11444854, PMID:26786512 ; - oboInOwl:hasDbXref UMLS:C1426029 ; oboInOwl:hasExactSynonym "DNAJC9", "dnaj/hsp40 homolog, subfamily c, member 9", "j domain of dnaj-like protein 1", "kiaa0974" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23234 ; - skos:exactMatch HGNC_symbol:DNAJC9 ; + skos:exactMatch UMLS:C1426029, + HGNC:19123, + HGNC_symbol:DNAJC9 ; biolink:category biolink:Gene . OMIM:611207 a owl:Class ; rdfs:label "DNAJC1" ; IAO:0000142 PMID:14668352 ; - oboInOwl:hasDbXref UMLS:C1426675 ; oboInOwl:hasExactSynonym "DNAJC1", "dnaj/hsp40 homolog, subfamily c, member 1", "htj1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64215 ; - skos:exactMatch HGNC_symbol:DNAJC1 ; + skos:exactMatch UMLS:C1426675, + HGNC:20090, + HGNC_symbol:DNAJC1 ; biolink:category biolink:Gene . OMIM:611208 a owl:Class ; rdfs:label "HNRNPLL" ; IAO:0000142 PMID:15256261, PMID:18669861 ; - oboInOwl:hasDbXref UMLS:C1539673 ; oboInOwl:hasExactSynonym "HNRNPLL", "heterogeneous nuclear ribonucleoprotein l-like", "hnrpll", "stromal rna-regulating factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92906 ; - skos:exactMatch HGNC_symbol:HNRNPLL ; + skos:exactMatch UMLS:C1539673, + HGNC:25127, + HGNC_symbol:HNRNPLL ; biolink:category biolink:Gene . OMIM:611210 a owl:Class ; @@ -289079,13 +300558,14 @@ OMIM:611210 a owl:Class ; PMID:16982762, PMID:17160018, PMID:17482142 ; - oboInOwl:hasDbXref UMLS:C1538595 ; oboInOwl:hasExactSynonym "PBK", "lymphokine-activated killer t cell-originated protein kinase", "pdz-binding kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55872 ; - skos:exactMatch HGNC_symbol:PBK ; + skos:exactMatch UMLS:C1538595, + HGNC:18282, + HGNC_symbol:PBK ; biolink:category biolink:Gene . OMIM:611211 a owl:Class ; @@ -289095,35 +300575,38 @@ OMIM:611211 a owl:Class ; PMID:30506946 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:618386 ; - oboInOwl:hasDbXref UMLS:C1422189 ; oboInOwl:hasExactSynonym "RELT", "receptor expressed 1n lymphoid tissues", "tumor necrosis factor receptor superfamily, member 19-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84957 ; - skos:exactMatch HGNC_symbol:RELT ; + skos:exactMatch UMLS:C1422189, + HGNC:13764, + HGNC_symbol:RELT ; biolink:category biolink:Gene . OMIM:611212 a owl:Class ; rdfs:label "RELL1" ; IAO:0000142 PMID:16389068 ; - oboInOwl:hasDbXref UMLS:C1970015 ; oboInOwl:hasExactSynonym "RELL1", "relt-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:768211 ; - skos:exactMatch HGNC_symbol:RELL1 ; + skos:exactMatch UMLS:C1970015, + HGNC:27379, + HGNC_symbol:RELL1 ; biolink:category biolink:Gene . OMIM:611213 a owl:Class ; rdfs:label "RELL2" ; IAO:0000142 PMID:16389068 ; - oboInOwl:hasDbXref UMLS:C1970014 ; oboInOwl:hasExactSynonym "RELL2", "relt-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285613 ; - skos:exactMatch HGNC_symbol:RELL2 ; + skos:exactMatch UMLS:C1970014, + HGNC:26902, + HGNC_symbol:RELL2 ; biolink:category biolink:Gene . OMIM:611214 a owl:Class ; @@ -289131,33 +300614,34 @@ OMIM:611214 a owl:Class ; IAO:0000142 PMID:10718198, PMID:11565749, PMID:29875412 ; - oboInOwl:hasDbXref UMLS:C1823522 ; oboInOwl:hasExactSynonym "TSR1", "kiaa1401", "tsr1 ribosome maturation factor", "tsr1, 20s rrna accumulation, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55720 ; - skos:exactMatch HGNC_symbol:TSR1 ; + skos:exactMatch UMLS:C1823522, + HGNC:25542, + HGNC_symbol:TSR1 ; biolink:category biolink:Gene . OMIM:611215 a owl:Class ; rdfs:label "PWRN1" ; IAO:0000142 PMID:17337158, PMID:19471314 ; - oboInOwl:hasDbXref UMLS:C1826743 ; oboInOwl:hasExactSynonym "PWRN1", "prader-willi region noncoding RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:791114 ; - skos:exactMatch HGNC_symbol:PWRN1 ; + skos:exactMatch UMLS:C1826743, + HGNC:33235, + HGNC_symbol:PWRN1 ; biolink:category biolink:Gene . OMIM:611216 a owl:Class ; rdfs:label "UBXN4" ; IAO:0000142 PMID:16968747, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1423004 ; oboInOwl:hasExactSynonym "UBXN4", "erasin", "kiaa2042", @@ -289165,18 +300649,21 @@ OMIM:611216 a owl:Class ; "ubx domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23190 ; - skos:exactMatch HGNC_symbol:UBXN4 ; + skos:exactMatch UMLS:C1423004, + HGNC:14860, + HGNC_symbol:UBXN4 ; biolink:category biolink:Gene . OMIM:611217 a owl:Class ; rdfs:label "PWRN2" ; IAO:0000142 PMID:17337158 ; - oboInOwl:hasDbXref UMLS:C1826744 ; oboInOwl:hasExactSynonym "PWRN2", "prader-willi region noncoding RNA 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:791115 ; - skos:exactMatch HGNC_symbol:PWRN2 ; + skos:exactMatch UMLS:C1826744, + HGNC:33236, + HGNC_symbol:PWRN2 ; biolink:category biolink:Gene . OMIM:611218 a owl:Class ; @@ -289186,14 +300673,15 @@ OMIM:611218 a owl:Class ; PMID:17471240, PMID:25825937, PMID:29695864 ; - oboInOwl:hasDbXref UMLS:C1539617 ; oboInOwl:hasExactSynonym "GSDMA", "gasdermin 1", "gasdermin a", "gsdm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284110 ; - skos:exactMatch HGNC_symbol:GSDMA ; + skos:exactMatch UMLS:C1539617, + HGNC:13311, + HGNC_symbol:GSDMA ; biolink:category biolink:Gene . OMIM:611219 a owl:Class ; @@ -289202,7 +300690,6 @@ OMIM:611219 a owl:Class ; PMID:16478993 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:619377 ; - oboInOwl:hasDbXref UMLS:C1823598 ; oboInOwl:hasExactSynonym "UNC45A", "gcunc45", "smooth muscle cell-associated protein 1", @@ -289210,7 +300697,9 @@ OMIM:611219 a owl:Class ; "unc45, c. elegans, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55898 ; - skos:exactMatch HGNC_symbol:UNC45A ; + skos:exactMatch UMLS:C1823598, + HGNC:30594, + HGNC_symbol:UNC45A ; biolink:category biolink:Gene . OMIM:611220 a owl:Class ; @@ -289222,14 +300711,15 @@ OMIM:611220 a owl:Class ; PMID:33217308 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:619178 ; - oboInOwl:hasDbXref UMLS:C1823599 ; oboInOwl:hasExactSynonym "UNC45B", "smunc45", "unc45 myosin chaperone B", "unc45, c. elegans, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146862 ; - skos:exactMatch HGNC_symbol:UNC45B ; + skos:exactMatch UMLS:C1823599, + HGNC:14304, + HGNC_symbol:UNC45B ; biolink:category biolink:Gene . OMIM:611221 a owl:Class ; @@ -289237,23 +300727,24 @@ OMIM:611221 a owl:Class ; IAO:0000142 PMID:15010812, PMID:17350798, PMID:32299851 ; - oboInOwl:hasDbXref UMLS:C1428195 ; oboInOwl:hasExactSynonym "GSDMB", "gasdermin B", "gasdermin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55876 ; - skos:exactMatch HGNC_symbol:GSDMB ; + skos:exactMatch UMLS:C1428195, + HGNC:23690, + HGNC_symbol:GSDMB ; biolink:category biolink:Gene . OMIM:611222 a owl:Class ; rdfs:label "microphthalmia, syndromic 10" ; IAO:0000142 PMID:16566018 ; - oboInOwl:hasDbXref UMLS:C1970013 ; oboInOwl:hasExactSynonym "MCOPS10", "microphthalmia and brain atrophy", "microphthalmia, syndromic 10" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C1970013 ; biolink:category biolink:Disease . OMIM:611223 a owl:Class ; @@ -289272,8 +300763,6 @@ OMIM:611223 a owl:Class ; PMID:23745724 ; RO:0002525 CHR:9606chr1q43-q44 ; RO:0003303 OMIM:615937 ; - oboInOwl:hasDbXref UMLS:C1332074, - UMLS:C3552424 ; oboInOwl:hasExactSynonym "AKT3", "akt serine/threonine kinase 3", "magi3/akt3 fusion gene", @@ -289282,7 +300771,10 @@ OMIM:611223 a owl:Class ; "v-akt murine thymoma viral oncogene homolog 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10000 ; - skos:exactMatch HGNC_symbol:AKT3 ; + skos:exactMatch UMLS:C1332074, + UMLS:C3552424, + HGNC:393, + HGNC_symbol:AKT3 ; biolink:category biolink:Gene . OMIM:611224 a owl:Class ; @@ -289293,7 +300785,6 @@ OMIM:611224 a owl:Class ; PMID:9128182 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:245400 ; - oboInOwl:hasDbXref UMLS:C1420511 ; oboInOwl:hasExactSynonym "SUCLG1", "g-alpha", "succinate-coa ligase, adp-forming, alpha subunit", @@ -289301,20 +300792,23 @@ OMIM:611224 a owl:Class ; "succinate-coa ligase, gdp-forming, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8802 ; - skos:exactMatch HGNC_symbol:SUCLG1 ; + skos:exactMatch UMLS:C1420511, + HGNC:11449, + HGNC_symbol:SUCLG1 ; biolink:category biolink:Gene . OMIM:611226 a owl:Class ; rdfs:label "ARMC3" ; IAO:0000142 PMID:16397042, PMID:16915934 ; - oboInOwl:hasDbXref UMLS:C1429025 ; oboInOwl:hasExactSynonym "ARMC3", "armadillo repeat-containing protein 3", "ku-ct-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219681 ; - skos:exactMatch HGNC_symbol:ARMC3 ; + skos:exactMatch UMLS:C1429025, + HGNC:30964, + HGNC_symbol:ARMC3 ; biolink:category biolink:Gene . OMIM:611227 a owl:Class ; @@ -289324,14 +300818,15 @@ OMIM:611227 a owl:Class ; PMID:20144758, PMID:22020278, PMID:22291013 ; - oboInOwl:hasDbXref UMLS:C1825554 ; oboInOwl:hasExactSynonym "HVCN1", "hv1", "hydrogen voltage-gated channel 1", "voltage sensor domain-only protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84329 ; - skos:exactMatch HGNC_symbol:HVCN1 ; + skos:exactMatch UMLS:C1825554, + HGNC:28240, + HGNC_symbol:HVCN1 ; biolink:category biolink:Gene . OMIM:611228 a owl:Class ; @@ -289342,24 +300837,25 @@ OMIM:611228 a owl:Class ; PMID:21705420, PMID:23489662, PMID:24878229 ; - oboInOwl:hasDbXref UMLS:C1970011 ; oboInOwl:hasExactSynonym "CMT4J", "charcot-marie-tooth disease, iia 4j", "charcot-marie-tooth disease, autosomal recessive, iia 4j" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1970011 ; biolink:category biolink:Disease . OMIM:611229 a owl:Class ; rdfs:label "ERLEC1" ; IAO:0000142 PMID:16531414 ; - oboInOwl:hasDbXref UMLS:C1540220 ; oboInOwl:hasExactSynonym "ERLEC1", "chromosome 2 open reading frame 30", "endoplasmic reticulum lectin 1", "erlectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27248 ; - skos:exactMatch HGNC_symbol:ERLEC1 ; + skos:exactMatch UMLS:C1540220, + HGNC:25222, + HGNC_symbol:ERLEC1 ; biolink:category biolink:Gene . OMIM:611230 a owl:Class ; @@ -289368,7 +300864,6 @@ OMIM:611230 a owl:Class ; PMID:17640884, PMID:18397266, PMID:27737959 ; - oboInOwl:hasDbXref UMLS:C1826385 ; oboInOwl:hasExactSynonym "NCAPH2", "chromosome-associated protein h2", "condensin 2 complex, non-smc subunit h2", @@ -289376,7 +300871,9 @@ OMIM:611230 a owl:Class ; "non-smc condensin 2 complex subunit h2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29781 ; - skos:exactMatch HGNC_symbol:NCAPH2 ; + skos:exactMatch UMLS:C1826385, + HGNC:25071, + HGNC_symbol:NCAPH2 ; biolink:category biolink:Gene . OMIM:611231 a owl:Class ; @@ -289387,12 +300884,13 @@ OMIM:611231 a owl:Class ; PMID:14722018, PMID:15068973, PMID:17287494 ; - oboInOwl:hasDbXref UMLS:C1413478 ; oboInOwl:hasExactSynonym "CLDN8", "claudin 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9073 ; - skos:exactMatch HGNC_symbol:CLDN8 ; + skos:exactMatch UMLS:C1413478, + HGNC:2050, + HGNC_symbol:CLDN8 ; biolink:category biolink:Gene . OMIM:611232 a owl:Class ; @@ -289400,49 +300898,53 @@ OMIM:611232 a owl:Class ; IAO:0000142 PMID:12743111, PMID:15068973, PMID:16382445 ; - oboInOwl:hasDbXref UMLS:C1413462 ; oboInOwl:hasExactSynonym "CLDN12", "claudin 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9069 ; - skos:exactMatch HGNC_symbol:CLDN12 ; + skos:exactMatch UMLS:C1413462, + HGNC:2034, + HGNC_symbol:CLDN12 ; biolink:category biolink:Gene . OMIM:611233 a owl:Class ; rdfs:label "ARMETL1" ; IAO:0000142 PMID:17611540 ; - oboInOwl:hasDbXref UMLS:C1538945 ; oboInOwl:hasExactSynonym "ARMETL1", "arginine-rich protein mutated 1n early stage tumors-like 1", "conserved dopamine neurotrophic factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441549 ; - skos:exactMatch HGNC_symbol:CDNF ; + skos:exactMatch UMLS:C1538945, + HGNC:24913, + HGNC_symbol:CDNF ; biolink:category biolink:Gene . OMIM:611234 a owl:Class ; rdfs:label "FAM84A" ; IAO:0000142 PMID:16820875 ; - oboInOwl:hasDbXref UMLS:C1825169 ; oboInOwl:hasExactSynonym "FAM84A", "family with sequence similarity 84, member a", "neurologic/sensory 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151354 ; - skos:exactMatch HGNC_symbol:LRATD1 ; + skos:exactMatch UMLS:C1825169, + HGNC:20743, + HGNC_symbol:LRATD1 ; biolink:category biolink:Gene . OMIM:611235 a owl:Class ; rdfs:label "TMEM38A" ; IAO:0000142 PMID:17611541 ; - oboInOwl:hasDbXref UMLS:C1540008 ; oboInOwl:hasExactSynonym "TMEM38A", "mitsugumin 33", "transmembrane protein 38a", "trimeric intracellular cation channel iia a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79041 ; - skos:exactMatch HGNC_symbol:TMEM38A ; + skos:exactMatch UMLS:C1540008, + HGNC:28462, + HGNC_symbol:TMEM38A ; biolink:category biolink:Gene . OMIM:611236 a owl:Class ; @@ -289455,39 +300957,42 @@ OMIM:611236 a owl:Class ; PMID:27698420 ; RO:0002525 CHR:9606chr9q31.2 ; RO:0003303 OMIM:615066 ; - oboInOwl:hasDbXref UMLS:C1540009 ; oboInOwl:hasExactSynonym "TMEM38B", "transmembrane protein 38b", "trimeric intracellular cation channel iia B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55151 ; - skos:exactMatch HGNC_symbol:TMEM38B ; + skos:exactMatch UMLS:C1540009, + HGNC:25535, + HGNC_symbol:TMEM38B ; biolink:category biolink:Gene . OMIM:611237 a owl:Class ; rdfs:label "BTBD9" ; IAO:0000142 PMID:11572484 ; - oboInOwl:hasDbXref UMLS:C1427432 ; oboInOwl:hasExactSynonym "BTBD9", "btb/poz domain-containing protein 9", "kiaa1880" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114781 ; - skos:exactMatch HGNC_symbol:BTBD9 ; + skos:exactMatch UMLS:C1427432, + HGNC:21228, + HGNC_symbol:BTBD9 ; biolink:category biolink:Gene . OMIM:611238 a owl:Class ; rdfs:label "CHCHD7" ; IAO:0000142 PMID:16736500, PMID:22842048 ; - oboInOwl:hasDbXref UMLS:C1428688, - UMLS:C3887966 ; oboInOwl:hasExactSynonym "CHCHD7", "chchd7/plag1 fusion gene", "coiled-coil-helix-coiled-coil-helix domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79145 ; - skos:exactMatch HGNC_symbol:CHCHD7 ; + skos:exactMatch UMLS:C1428688, + UMLS:C3887966, + HGNC:28314, + HGNC_symbol:CHCHD7 ; biolink:category biolink:Gene . OMIM:611239 a owl:Class ; @@ -289495,14 +301000,15 @@ OMIM:611239 a owl:Class ; IAO:0000142 PMID:10480904, PMID:11572484, PMID:15488195 ; - oboInOwl:hasDbXref UMLS:C1825413 ; oboInOwl:hasExactSynonym "GPRIN1", "g protein-regulated inducer of neurite outgrowth 1", "gprin family, member 1", "kiaa1893" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114787 ; - skos:exactMatch HGNC_symbol:GPRIN1 ; + skos:exactMatch UMLS:C1825413, + HGNC:24835, + HGNC_symbol:GPRIN1 ; biolink:category biolink:Gene . OMIM:611240 a owl:Class ; @@ -289511,45 +301017,47 @@ OMIM:611240 a owl:Class ; PMID:15488195, PMID:21030649, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1825414 ; oboInOwl:hasExactSynonym "GPRIN2", "g protein-regulated inducer of neurite outgrowth 2", "gprin family, member 2", "kiaa0514" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9721 ; - skos:exactMatch HGNC_symbol:GPRIN2 ; + skos:exactMatch UMLS:C1825414, + HGNC:23730, + HGNC_symbol:GPRIN2 ; biolink:category biolink:Gene . OMIM:611241 a owl:Class ; rdfs:label "GPRIN3" ; IAO:0000142 PMID:15488195 ; - oboInOwl:hasDbXref UMLS:C1825415 ; oboInOwl:hasExactSynonym "GPRIN3", "g protein-regulated inducer of neurite outgrowth 3", "gprin family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285513 ; - skos:exactMatch HGNC_symbol:GPRIN3 ; + skos:exactMatch UMLS:C1825415, + HGNC:27733, + HGNC_symbol:GPRIN3 ; biolink:category biolink:Gene . OMIM:611243 a owl:Class ; rdfs:label "TYW1" ; IAO:0000142 PMID:17150819 ; - oboInOwl:hasDbXref UMLS:C1823562 ; oboInOwl:hasExactSynonym "TYW1", "trna-wybutosine-synthesizing protein 1, s. cerevisiae, homolog of", "trna-yw-synthesizing protein 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55253 ; - skos:exactMatch HGNC_symbol:TYW1 ; + skos:exactMatch UMLS:C1823562, + HGNC:25598, + HGNC_symbol:TYW1 ; biolink:category biolink:Gene . OMIM:611244 a owl:Class ; rdfs:label "TRMT12" ; IAO:0000142 PMID:16005430, PMID:17150819 ; - oboInOwl:hasDbXref UMLS:C1823501 ; oboInOwl:hasExactSynonym "TRMT12", "trm12", "trna methyltransferase 12 homolog", @@ -289558,26 +301066,28 @@ OMIM:611244 a owl:Class ; "trna-yw-synthesizing protein 2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55039 ; - skos:exactMatch HGNC_symbol:TRMT12 ; + skos:exactMatch UMLS:C1823501, + HGNC:26091, + HGNC_symbol:TRMT12 ; biolink:category biolink:Gene . OMIM:611245 a owl:Class ; rdfs:label "TYW3" ; IAO:0000142 PMID:17150819 ; - oboInOwl:hasDbXref UMLS:C1823563 ; oboInOwl:hasExactSynonym "TYW3", "trna-wybutosine-synthesizing protein 3, s. cerevisiae, homolog of", "trna-yw-synthesizing protein 3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127253 ; - skos:exactMatch HGNC_symbol:TYW3 ; + skos:exactMatch UMLS:C1823563, + HGNC:24757, + HGNC_symbol:TYW3 ; biolink:category biolink:Gene . OMIM:611246 a owl:Class ; rdfs:label "LCMT2" ; IAO:0000142 PMID:17150819, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1424997 ; oboInOwl:hasExactSynonym "LCMT2", "kiaa0547", "leucine carboxyl methyltransferase 2", @@ -289585,20 +301095,23 @@ OMIM:611246 a owl:Class ; "trna-yw-synthesizing protein 4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9836 ; - skos:exactMatch HGNC_symbol:LCMT2 ; + skos:exactMatch UMLS:C1424997, + HGNC:17558, + HGNC_symbol:LCMT2 ; biolink:category biolink:Gene . OMIM:611248 a owl:Class ; rdfs:label "KLHDC3" ; IAO:0000142 PMID:12606021, PMID:12755172 ; - oboInOwl:hasDbXref UMLS:C1427084 ; oboInOwl:hasExactSynonym "KLHDC3", "kelch domain-containing protein 3", "peas" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116138 ; - skos:exactMatch HGNC_symbol:KLHDC3 ; + skos:exactMatch UMLS:C1427084, + HGNC:20704, + HGNC_symbol:KLHDC3 ; biolink:category biolink:Gene . OMIM:611249 a owl:Class ; @@ -289607,7 +301120,6 @@ OMIM:611249 a owl:Class ; PMID:17437991, PMID:18056805, PMID:18668040 ; - oboInOwl:hasDbXref UMLS:C1537913 ; oboInOwl:hasExactSynonym "MIRLET7B", "let7, c. elegans, homolog of, B", "micro RNA let7b", @@ -289615,7 +301127,9 @@ OMIM:611249 a owl:Class ; "mirnlet7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406884 ; - skos:exactMatch HGNC_symbol:MIRLET7B ; + skos:exactMatch UMLS:C1537913, + HGNC:31479, + HGNC_symbol:MIRLET7B ; biolink:category biolink:Gene . OMIM:611250 a owl:Class ; @@ -289623,7 +301137,6 @@ OMIM:611250 a owl:Class ; IAO:0000142 PMID:11679670, PMID:17437991, PMID:22262659 ; - oboInOwl:hasDbXref UMLS:C1537916 ; oboInOwl:hasExactSynonym "MIRLET7E", "let7, c. elegans, homolog of, e", "micro RNA let7e", @@ -289631,14 +301144,15 @@ OMIM:611250 a owl:Class ; "mirnlet7e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406887 ; - skos:exactMatch HGNC_symbol:MIRLET7E ; + skos:exactMatch UMLS:C1537916, + HGNC:31482, + HGNC_symbol:MIRLET7E ; biolink:category biolink:Gene . OMIM:611251 a owl:Class ; rdfs:label "DISP3" ; IAO:0000142 PMID:10718198, PMID:15645143 ; - oboInOwl:hasDbXref UMLS:C1826733 ; oboInOwl:hasExactSynonym "DISP3", "dispatched rnd transporter family, member 3", "dispatched, drosophila, homolog of, 3", @@ -289646,7 +301160,9 @@ OMIM:611251 a owl:Class ; "patched domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57540 ; - skos:exactMatch HGNC_symbol:DISP3 ; + skos:exactMatch UMLS:C1826733, + HGNC:29251, + HGNC_symbol:DISP3 ; biolink:category biolink:Gene . OMIM:611253 a owl:Class ; @@ -289655,12 +301171,13 @@ OMIM:611253 a owl:Class ; PMID:15547730, PMID:16015647, PMID:19305393 ; - oboInOwl:hasDbXref UMLS:C1425662 ; oboInOwl:hasExactSynonym "KIF27", "kinesin family member 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55582 ; - skos:exactMatch HGNC_symbol:KIF27 ; + skos:exactMatch UMLS:C1425662, + HGNC:18632, + HGNC_symbol:KIF27 ; biolink:category biolink:Gene . OMIM:611254 a owl:Class ; @@ -289676,18 +301193,19 @@ OMIM:611254 a owl:Class ; PMID:9689990 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:200990 ; - oboInOwl:hasDbXref UMLS:C0796147, + oboInOwl:hasExactSynonym "KIF7", + "kinesin family member 7" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:374654 ; + skos:exactMatch UMLS:C0796147, UMLS:C1537482, UMLS:C1846722, UMLS:C2986382, UMLS:C3277723, UMLS:C3279899, - UMLS:C3280899 ; - oboInOwl:hasExactSynonym "KIF7", - "kinesin family member 7" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:374654 ; - skos:exactMatch HGNC_symbol:KIF7 ; + UMLS:C3280899, + HGNC:30497, + HGNC_symbol:KIF7 ; biolink:category biolink:Gene . OMIM:611255 a owl:Class ; @@ -289696,14 +301214,15 @@ OMIM:611255 a owl:Class ; PMID:12716910, PMID:16814099, PMID:17189823 ; - oboInOwl:hasDbXref UMLS:C1419901 ; oboInOwl:hasExactSynonym "NOXA1", "nadph oxidase activator 1", "nox activator 1", "p51-nox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10811 ; - skos:exactMatch HGNC_symbol:NOXA1 ; + skos:exactMatch UMLS:C1419901, + HGNC:10668, + HGNC_symbol:NOXA1 ; biolink:category biolink:Gene . OMIM:611256 a owl:Class ; @@ -289713,27 +301232,29 @@ OMIM:611256 a owl:Class ; PMID:14617635, PMID:15949904, PMID:17189823 ; - oboInOwl:hasDbXref UMLS:C1426224 ; oboInOwl:hasExactSynonym "NOXO1", "nadph oxidase organizer 1", "p41-nox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124056 ; - skos:exactMatch HGNC_symbol:NOXO1 ; + skos:exactMatch UMLS:C1426224, + HGNC:19404, + HGNC_symbol:NOXO1 ; biolink:category biolink:Gene . OMIM:611257 a owl:Class ; rdfs:label "TMEM132D" ; IAO:0000142 PMID:11853319, PMID:12966072 ; - oboInOwl:hasDbXref UMLS:C1823394 ; oboInOwl:hasExactSynonym "TMEM132D", "kiaa1944", "mature oligodendrocyte transmembrane protein", "transmembrane protein 132d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121256 ; - skos:exactMatch HGNC_symbol:TMEM132D ; + skos:exactMatch UMLS:C1823394, + HGNC:29411, + HGNC_symbol:TMEM132D ; biolink:category biolink:Gene . OMIM:611258 a owl:Class ; @@ -289745,7 +301266,6 @@ OMIM:611258 a owl:Class ; PMID:28418495 ; RO:0002525 CHR:9606chr9q22.33 ; RO:0003303 OMIM:613887 ; - oboInOwl:hasDbXref UMLS:C1429004 ; oboInOwl:hasExactSynonym "TDRD7", "kiaa1529", "pctaire2-binding protein", @@ -289753,7 +301273,9 @@ OMIM:611258 a owl:Class ; "tudor repeat associator with pctaire2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23424 ; - skos:exactMatch HGNC_symbol:TDRD7 ; + skos:exactMatch UMLS:C1429004, + HGNC:30831, + HGNC_symbol:TDRD7 ; biolink:category biolink:Gene . OMIM:611259 a owl:Class ; @@ -289766,43 +301288,45 @@ OMIM:611259 a owl:Class ; PMID:20584901, PMID:21841312, PMID:24760768 ; - oboInOwl:hasDbXref UMLS:C1427272 ; oboInOwl:hasExactSynonym "CDKAL1", "cdk5 regulatory subunit-associated protein 1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54901 ; - skos:exactMatch HGNC_symbol:CDKAL1 ; + skos:exactMatch UMLS:C1427272, + HGNC:21050, + HGNC_symbol:CDKAL1 ; biolink:category biolink:Gene . OMIM:611260 a owl:Class ; rdfs:label "THNSL1" ; IAO:0000142 PMID:17034760 ; - oboInOwl:hasDbXref UMLS:C1539960 ; oboInOwl:hasExactSynonym "THNSL1", "threonine synthase-like 1", "tsh1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79896 ; - skos:exactMatch HGNC_symbol:THNSL1 ; + skos:exactMatch UMLS:C1539960, + HGNC:26160, + HGNC_symbol:THNSL1 ; biolink:category biolink:Gene . OMIM:611261 a owl:Class ; rdfs:label "THNSL2" ; IAO:0000142 PMID:17034760 ; - oboInOwl:hasDbXref UMLS:C1970006 ; oboInOwl:hasExactSynonym "THNSL2", "threonine synthase-like 2", "ths2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55258 ; - skos:exactMatch HGNC_symbol:THNSL2 ; + skos:exactMatch UMLS:C1970006, + HGNC:25602, + HGNC_symbol:THNSL2 ; biolink:category biolink:Gene . OMIM:611262 a owl:Class ; rdfs:label "DOHH" ; IAO:0000142 PMID:16371467, PMID:16533814 ; - oboInOwl:hasDbXref UMLS:C1824956 ; oboInOwl:hasExactSynonym "DOHH", "deoxyhypusine dioxygenase", "deoxyhypusine hydroxylase", @@ -289810,7 +301334,9 @@ OMIM:611262 a owl:Class ; "heat-like repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83475 ; - skos:exactMatch HGNC_symbol:DOHH ; + skos:exactMatch UMLS:C1824956, + HGNC:28662, + HGNC_symbol:DOHH ; biolink:category biolink:Gene . OMIM:611264 a owl:Class ; @@ -289818,14 +301344,15 @@ OMIM:611264 a owl:Class ; IAO:0000142 PMID:17610844, PMID:21695110, PMID:22002061 ; - oboInOwl:hasDbXref UMLS:C1427577 ; oboInOwl:hasExactSynonym "CENPW", "cancer-upregulated gene 2", "centromeric protein w", "chromosome 6 open reading frame 173" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387103 ; - skos:exactMatch HGNC_symbol:CENPW ; + skos:exactMatch UMLS:C1427577, + HGNC:21488, + HGNC_symbol:CENPW ; biolink:category biolink:Gene . OMIM:611265 a owl:Class ; @@ -289833,7 +301360,6 @@ OMIM:611265 a owl:Class ; IAO:0000142 PMID:11214970, PMID:12189208, PMID:16239304 ; - oboInOwl:hasDbXref UMLS:C1970004 ; oboInOwl:hasExactSynonym "kiaa1769", "pdip1-alpha", "pdip1-beta", @@ -289842,20 +301368,23 @@ OMIM:611265 a owl:Class ; "pric complex, 285-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85441 ; - skos:exactMatch HGNC_symbol:HELZ2 ; + skos:exactMatch UMLS:C1970004, + HGNC:30021, + HGNC_symbol:HELZ2 ; biolink:category biolink:Gene . OMIM:611266 a owl:Class ; rdfs:label "POTEKP" ; IAO:0000142 PMID:16824795 ; - oboInOwl:hasDbXref UMLS:C1538905 ; oboInOwl:hasExactSynonym "POTEKP", "actin, kappa actin-like protein", "fksg30", "pote ankyrin domain family, member k, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440915 ; - skos:exactMatch HGNC_symbol:POTEKP ; + skos:exactMatch UMLS:C1538905, + HGNC:30182, + HGNC_symbol:POTEKP ; biolink:category biolink:Gene . OMIM:611267 a owl:Class ; @@ -289863,14 +301392,15 @@ OMIM:611267 a owl:Class ; IAO:0000142 PMID:15313197, PMID:16206286, PMID:16491480 ; - oboInOwl:hasDbXref UMLS:C1538551 ; oboInOwl:hasExactSynonym "OR51E1", "dgpcr", "olfactory receptor, family 51, subfamily e, member 1", "prostate-specific g protein-coupled receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143503 ; - skos:exactMatch HGNC_symbol:OR51E1 ; + skos:exactMatch UMLS:C1538551, + HGNC:15194, + HGNC_symbol:OR51E1 ; biolink:category biolink:Gene . OMIM:611268 a owl:Class ; @@ -289881,26 +301411,28 @@ OMIM:611268 a owl:Class ; PMID:16206286, PMID:16491480, PMID:26560302 ; - oboInOwl:hasDbXref UMLS:C1423286 ; oboInOwl:hasExactSynonym "OR51E2", "olfactory receptor, family 51, subfamily e, member 2", "prostate-specific g protein-coupled receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81285 ; - skos:exactMatch HGNC_symbol:OR51E2 ; + skos:exactMatch UMLS:C1423286, + HGNC:15195, + HGNC_symbol:OR51E2 ; biolink:category biolink:Gene . OMIM:611269 a owl:Class ; rdfs:label "NOM1" ; IAO:0000142 PMID:15715967, PMID:30639046 ; - oboInOwl:hasDbXref UMLS:C1538476 ; oboInOwl:hasExactSynonym "NOM1", "chromosome 7 open reading frame 3", "nucleolar protein with mif4g domain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64434 ; - skos:exactMatch HGNC_symbol:NOM1 ; + skos:exactMatch UMLS:C1538476, + HGNC:13244, + HGNC_symbol:NOM1 ; biolink:category biolink:Gene . OMIM:611270 a owl:Class ; @@ -289908,8 +301440,6 @@ OMIM:611270 a owl:Class ; IAO:0000142 PMID:21040848, PMID:26235277, PMID:8455721 ; - oboInOwl:hasDbXref UMLS:C1423703, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "NAPB", "n-ethylmaleimide-sensitive factor attachment protein, beta", "nsf attachment protein beta", @@ -289917,20 +301447,24 @@ OMIM:611270 a owl:Class ; "soluble nsf-attachment protein, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63908 ; - skos:exactMatch HGNC_symbol:NAPB ; + skos:exactMatch UMLS:C1423703, + UMLS:C2986382, + HGNC:15751, + HGNC_symbol:NAPB ; biolink:category biolink:Gene . OMIM:611271 a owl:Class ; rdfs:label "KIF18A" ; IAO:0000142 PMID:15878648, PMID:18267093 ; - oboInOwl:hasDbXref UMLS:C1537484 ; oboInOwl:hasExactSynonym "KIF18A", "kinesin family member 18a", "marrow stromal kif18a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81930 ; - skos:exactMatch HGNC_symbol:KIF18A ; + skos:exactMatch UMLS:C1537484, + HGNC:29441, + HGNC_symbol:KIF18A ; biolink:category biolink:Gene . OMIM:611272 a owl:Class ; @@ -289938,20 +301472,20 @@ OMIM:611272 a owl:Class ; IAO:0000142 PMID:10231032, PMID:10585779, PMID:12860387 ; - oboInOwl:hasDbXref UMLS:C1421576 ; oboInOwl:hasExactSynonym "ZKSCAN5", "kiaa1015", "zinc finger protein 95", "zinc finger protein with krab and scan domains 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23660 ; - skos:exactMatch HGNC_symbol:ZKSCAN5 ; + skos:exactMatch UMLS:C1421576, + HGNC:12867, + HGNC_symbol:ZKSCAN5 ; biolink:category biolink:Gene . OMIM:611273 a owl:Class ; rdfs:label "SKOR1" ; IAO:0000142 PMID:15528197 ; - oboInOwl:hasDbXref UMLS:C1825797 ; oboInOwl:hasExactSynonym "SKOR1", "corl1", "functional smad-suppressing element 15", @@ -289959,7 +301493,9 @@ OMIM:611273 a owl:Class ; "ski family transcriptional corepressor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390598 ; - skos:exactMatch HGNC_symbol:SKOR1 ; + skos:exactMatch UMLS:C1825797, + HGNC:21326, + HGNC_symbol:SKOR1 ; biolink:category biolink:Gene . OMIM:611275 a owl:Class ; @@ -289967,7 +301503,6 @@ OMIM:611275 a owl:Class ; IAO:0000142 PMID:11741952, PMID:12681488, PMID:12901880 ; - oboInOwl:hasDbXref UMLS:C1424669 ; oboInOwl:hasExactSynonym "BNIPL", "bcl2/adenovirus e1b 19-kd protein-interacting protein 2-like", "bnip2-similar", @@ -289975,7 +301510,9 @@ OMIM:611275 a owl:Class ; "bnipl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149428 ; - skos:exactMatch HGNC_symbol:BNIPL ; + skos:exactMatch UMLS:C1424669, + HGNC:16976, + HGNC_symbol:BNIPL ; biolink:category biolink:Gene . OMIM:611277 a owl:Class ; @@ -289988,12 +301525,13 @@ OMIM:611278 a owl:Class ; PMID:9275178 ; RO:0002525 CHR:9606chr9q32 ; RO:0003303 OMIM:619662 ; - oboInOwl:hasDbXref UMLS:C1427584 ; oboInOwl:hasExactSynonym "KIF12", "kinesin family member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113220 ; - skos:exactMatch HGNC_symbol:KIF12 ; + skos:exactMatch UMLS:C1427584, + HGNC:21495, + HGNC_symbol:KIF12 ; biolink:category biolink:Gene . OMIM:611279 a owl:Class ; @@ -290010,13 +301548,14 @@ OMIM:611279 a owl:Class ; PMID:9275178 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:617914 ; - oboInOwl:hasDbXref UMLS:C1426070 ; oboInOwl:hasExactSynonym "KIF14", "kiaa0042", "kinesin family member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9928 ; - skos:exactMatch HGNC_symbol:KIF14 ; + skos:exactMatch UMLS:C1426070, + HGNC:19181, + HGNC_symbol:KIF14 ; biolink:category biolink:Gene . OMIM:611280 a owl:Class ; @@ -290024,24 +301563,26 @@ OMIM:611280 a owl:Class ; IAO:0000142 PMID:11384994, PMID:16964437, PMID:27626380 ; - oboInOwl:hasDbXref UMLS:C1426794 ; oboInOwl:hasExactSynonym "KLHDC2", "host cell factor-like protein 1", "kelch domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23588 ; - skos:exactMatch HGNC_symbol:KLHDC2 ; + skos:exactMatch UMLS:C1426794, + HGNC:20231, + HGNC_symbol:KLHDC2 ; biolink:category biolink:Gene . OMIM:611281 a owl:Class ; rdfs:label "KLHDC1" ; IAO:0000142 PMID:16964437 ; - oboInOwl:hasDbXref UMLS:C1426463 ; oboInOwl:hasExactSynonym "KLHDC1", "kelch domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122773 ; - skos:exactMatch HGNC_symbol:KLHDC1 ; + skos:exactMatch UMLS:C1426463, + HGNC:19836, + HGNC_symbol:KLHDC1 ; biolink:category biolink:Gene . OMIM:611282 a owl:Class ; @@ -290052,14 +301593,15 @@ OMIM:611282 a owl:Class ; PMID:30290152 ; RO:0002525 CHR:9606chr10q24.2 ; RO:0003303 OMIM:618415 ; - oboInOwl:hasDbXref UMLS:C1428968 ; oboInOwl:hasExactSynonym "DNMBP", "dynamin-binding protein", "kiaa1010", "tuba" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23268 ; - skos:exactMatch HGNC_symbol:DNMBP ; + skos:exactMatch UMLS:C1428968, + HGNC:30373, + HGNC_symbol:DNMBP ; biolink:category biolink:Gene . OMIM:611284 a owl:Class ; @@ -290067,36 +301609,38 @@ OMIM:611284 a owl:Class ; IAO:0000142 PMID:15668411, PMID:16924027, PMID:19349605 ; - oboInOwl:hasDbXref UMLS:C1969807, - UMLS:C2749929 ; oboInOwl:hasExactSynonym "FTSD", "dystonia, focal, task-specific", "musician's dystonia" ; + skos:exactMatch UMLS:C1969807, + UMLS:C2749929 ; biolink:category biolink:Disease . OMIM:611285 a owl:Class ; rdfs:label "KCTD5" ; IAO:0000142 PMID:17239418, PMID:28562590 ; - oboInOwl:hasDbXref UMLS:C1427556 ; oboInOwl:hasExactSynonym "KCTD5", "potassium channel tetramerization domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54442 ; - skos:exactMatch HGNC_symbol:KCTD5 ; + skos:exactMatch UMLS:C1427556, + HGNC:21423, + HGNC_symbol:KCTD5 ; biolink:category biolink:Gene . OMIM:611286 a owl:Class ; rdfs:label "RTCD1" ; IAO:0000142 PMID:9184239 ; - oboInOwl:hasDbXref UMLS:C1425216 ; oboInOwl:hasExactSynonym "RNA 3-prime-terminal phosphate cyclase: rpc", "RNA terminal phosphate cyclase domain-containing protein 1", "RTCD1", "rtc domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8634 ; - skos:exactMatch HGNC_symbol:RTCA ; + skos:exactMatch UMLS:C1425216, + HGNC:17981, + HGNC_symbol:RTCA ; biolink:category biolink:Gene . OMIM:611287 a owl:Class ; @@ -290105,7 +301649,6 @@ OMIM:611287 a owl:Class ; PMID:16396907, PMID:17607000, PMID:19265014 ; - oboInOwl:hasDbXref UMLS:C1426240 ; oboInOwl:hasExactSynonym "CNIH1", "cnih", "cornichon family ampa receptor auxiliary protein 1", @@ -290113,7 +301656,9 @@ OMIM:611287 a owl:Class ; "t-cell growth-associated molecule 77" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10175 ; - skos:exactMatch HGNC_symbol:CNIH1 ; + skos:exactMatch UMLS:C1426240, + HGNC:19431, + HGNC_symbol:CNIH1 ; biolink:category biolink:Gene . OMIM:611288 a owl:Class ; @@ -290121,14 +301666,15 @@ OMIM:611288 a owl:Class ; IAO:0000142 PMID:16396907, PMID:17229890, PMID:19265014 ; - oboInOwl:hasDbXref UMLS:C1539112 ; oboInOwl:hasExactSynonym "CNIH2", "cni-like", "cornichon family ampa receptor auxiliary protein 2", "cornichon, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254263 ; - skos:exactMatch HGNC_symbol:CNIH2 ; + skos:exactMatch UMLS:C1539112, + HGNC:28744, + HGNC_symbol:CNIH2 ; biolink:category biolink:Gene . OMIM:611289 a owl:Class ; @@ -290137,13 +301683,14 @@ OMIM:611289 a owl:Class ; PMID:23868260, PMID:3856868, PMID:69600 ; - oboInOwl:hasDbXref UMLS:C1428862 ; oboInOwl:hasExactSynonym "LRG1", "leucine-rich alpha-2-glycoprotein 1", "lrg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116844 ; - skos:exactMatch HGNC_symbol:LRG1 ; + skos:exactMatch UMLS:C1428862, + HGNC:29480, + HGNC_symbol:LRG1 ; biolink:category biolink:Gene . OMIM:611290 a owl:Class ; @@ -290162,7 +301709,6 @@ OMIM:611290 a owl:Class ; PMID:28846100 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:611291 ; - oboInOwl:hasDbXref UMLS:C1826402 ; oboInOwl:hasExactSynonym "NHEJ1", "cernunnos", "nej1, s. cerevisiae, homolog of", @@ -290170,14 +301716,15 @@ OMIM:611290 a owl:Class ; "xrcc4-like factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79840 ; - skos:exactMatch HGNC_symbol:NHEJ1 ; + skos:exactMatch UMLS:C1826402, + HGNC:25737, + HGNC_symbol:NHEJ1 ; biolink:category biolink:Gene . OMIM:611292 a owl:Class ; rdfs:label "CLVS1" ; IAO:0000142 PMID:16802092, PMID:19651769 ; - oboInOwl:hasDbXref UMLS:C1969798 ; oboInOwl:hasExactSynonym "CLVS1", "cellular retinaldehyde-binding protein-like", "clathrin vesicle-associated sec14 protein 1", @@ -290185,31 +301732,35 @@ OMIM:611292 a owl:Class ; "retinaldehyde-binding protein 1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157807 ; - skos:exactMatch HGNC_symbol:CLVS1 ; + skos:exactMatch UMLS:C1969798, + HGNC:23139, + HGNC_symbol:CLVS1 ; biolink:category biolink:Gene . OMIM:611293 a owl:Class ; rdfs:label "CCDC86" ; IAO:0000142 PMID:17300783 ; - oboInOwl:hasDbXref UMLS:C1824612 ; oboInOwl:hasExactSynonym "CCDC86", "coiled-coil domain-containing protein 86", "cytokine-induced protein with coiled-coil domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79080 ; - skos:exactMatch HGNC_symbol:CCDC86 ; + skos:exactMatch UMLS:C1824612, + HGNC:28359, + HGNC_symbol:CCDC86 ; biolink:category biolink:Gene . OMIM:611294 a owl:Class ; rdfs:label "ONECUT3" ; IAO:0000142 PMID:11944891 ; - oboInOwl:hasDbXref UMLS:C1421973 ; oboInOwl:hasExactSynonym "ONECUT3", "one cut domain, family member 3", "one cut homeobox 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390874 ; - skos:exactMatch HGNC_symbol:ONECUT3 ; + skos:exactMatch UMLS:C1421973, + HGNC:13399, + HGNC_symbol:ONECUT3 ; biolink:category biolink:Gene . OMIM:611295 a owl:Class ; @@ -290219,19 +301770,19 @@ OMIM:611295 a owl:Class ; PMID:27889062 ; RO:0002525 CHR:9606chr3q27.1 ; RO:0003303 OMIM:617294 ; - oboInOwl:hasDbXref UMLS:C1825726 ; oboInOwl:hasExactSynonym "KLHL24", "kainate receptor-interacting protein for glur6", "kelch-like 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54800 ; - skos:exactMatch HGNC_symbol:KLHL24 ; + skos:exactMatch UMLS:C1825726, + HGNC:25947, + HGNC_symbol:KLHL24 ; biolink:category biolink:Gene . OMIM:611296 a owl:Class ; rdfs:label "ANXA2R" ; IAO:0000142 PMID:16895901 ; - oboInOwl:hasDbXref UMLS:C1969797 ; oboInOwl:hasExactSynonym "ANXA2R", "annexin 2 receptor", "annexin a2 receptor", @@ -290239,7 +301790,9 @@ OMIM:611296 a owl:Class ; "chromosome 5 open reading frame 39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389289 ; - skos:exactMatch HGNC_symbol:ANXA2R ; + skos:exactMatch UMLS:C1969797, + HGNC:33463, + HGNC_symbol:ANXA2R ; biolink:category biolink:Gene . OMIM:611297 a owl:Class ; @@ -290249,26 +301802,28 @@ OMIM:611297 a owl:Class ; PMID:15175245, PMID:15670784, PMID:19251632 ; - oboInOwl:hasDbXref UMLS:C1538552 ; oboInOwl:hasExactSynonym "OSR2", "odd-skipped-related transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116039 ; - skos:exactMatch HGNC_symbol:OSR2 ; + skos:exactMatch UMLS:C1538552, + HGNC:15830, + HGNC_symbol:OSR2 ; biolink:category biolink:Gene . OMIM:611298 a owl:Class ; rdfs:label "ELAPOR1" ; IAO:0000142 PMID:10718198, PMID:16322283 ; - oboInOwl:hasDbXref UMLS:C1825684 ; oboInOwl:hasExactSynonym "ELAPOR1", "endosome-lysosome-associated apoptosis and autophagy regulator 1", "estrogen-induced gene 121", "kiaa1324" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57535 ; - skos:exactMatch HGNC_symbol:ELAPOR1 ; + skos:exactMatch UMLS:C1825684, + HGNC:29618, + HGNC_symbol:ELAPOR1 ; biolink:category biolink:Gene . OMIM:611299 a owl:Class ; @@ -290276,27 +301831,29 @@ OMIM:611299 a owl:Class ; IAO:0000142 PMID:10718198, PMID:11483598, PMID:17239372 ; - oboInOwl:hasDbXref UMLS:C1426872 ; oboInOwl:hasExactSynonym "G2E3", "g2/m phase-specific e3 ubiquitin ligase", "kiaa1333" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55632 ; - skos:exactMatch HGNC_symbol:G2E3 ; + skos:exactMatch UMLS:C1426872, + HGNC:20338, + HGNC_symbol:G2E3 ; biolink:category biolink:Gene . OMIM:611300 a owl:Class ; rdfs:label "LARP6" ; IAO:0000142 PMID:17383118, PMID:23887937 ; - oboInOwl:hasDbXref UMLS:C1825791 ; oboInOwl:hasExactSynonym "LARP6", "acheron", "la ribonucleoprotein 6, translational regulator", "la ribonucleoprotein domain family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55323 ; - skos:exactMatch HGNC_symbol:LARP6 ; + skos:exactMatch UMLS:C1825791, + HGNC:24012, + HGNC_symbol:LARP6 ; biolink:category biolink:Gene . OMIM:611301 a owl:Class ; @@ -290304,13 +301861,14 @@ OMIM:611301 a owl:Class ; IAO:0000142 PMID:12724401, PMID:17396147, PMID:31666700 ; - oboInOwl:hasDbXref UMLS:C1824462 ; oboInOwl:hasExactSynonym "FAAP100", "chromosome 17 open reading frame 70", "fanconi anemia-associated protein, 100-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80233 ; - skos:exactMatch HGNC_symbol:FAAP100 ; + skos:exactMatch UMLS:C1824462, + HGNC:26171, + HGNC_symbol:FAAP100 ; biolink:category biolink:Gene . OMIM:611303 a owl:Class ; @@ -290321,25 +301879,27 @@ OMIM:611303 a owl:Class ; PMID:17554300, PMID:17632545, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1825657 ; oboInOwl:hasExactSynonym "CLEC16A", "c-type lectin domain family 16, member a", "kiaa0350" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23274 ; - skos:exactMatch HGNC_symbol:CLEC16A ; + skos:exactMatch UMLS:C1825657, + HGNC:29013, + HGNC_symbol:CLEC16A ; biolink:category biolink:Gene . OMIM:611304 a owl:Class ; rdfs:label "TMEM159" ; IAO:0000142 PMID:15589683 ; - oboInOwl:hasDbXref UMLS:C1823423 ; oboInOwl:hasExactSynonym "TMEM159", "promethin", "transmembrane protein 159" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57146 ; - skos:exactMatch HGNC_symbol:LDAF1 ; + skos:exactMatch UMLS:C1823423, + HGNC:30136, + HGNC_symbol:LDAF1 ; biolink:category biolink:Gene . OMIM:611305 a owl:Class ; @@ -290347,25 +301907,27 @@ OMIM:611305 a owl:Class ; IAO:0000142 PMID:10048485, PMID:16328021, PMID:17194709 ; - oboInOwl:hasDbXref UMLS:C1428795 ; oboInOwl:hasExactSynonym "ABLIM3", "actin-binding 51m protein family, member 3", "kiaa0843" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22885 ; - skos:exactMatch HGNC_symbol:ABLIM3 ; + skos:exactMatch UMLS:C1428795, + HGNC:29132, + HGNC_symbol:ABLIM3 ; biolink:category biolink:Gene . OMIM:611306 a owl:Class ; rdfs:label "SCARA5" ; IAO:0000142 PMID:16407294, PMID:20038795 ; - oboInOwl:hasDbXref UMLS:C1822624 ; oboInOwl:hasExactSynonym "SCARA5", "scavenger receptor class a, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286133 ; - skos:exactMatch HGNC_symbol:SCARA5 ; + skos:exactMatch UMLS:C1822624, + HGNC:28701, + HGNC_symbol:SCARA5 ; biolink:category biolink:Gene . OMIM:611308 a owl:Class ; @@ -290374,16 +301936,15 @@ OMIM:611308 a owl:Class ; PMID:17375531, PMID:2377350, PMID:9514496 ; - oboInOwl:hasDbXref UMLS:C1969784 ; oboInOwl:hasExactSynonym "PHPVAD", "persistent hyperplastic primary vitreous, autosomal dominant" ; rdfs:subClassOf OMIMPS:221900 ; + skos:exactMatch UMLS:C1969784 ; biolink:category biolink:Disease . OMIM:611309 a owl:Class ; rdfs:label "DEPP1" ; IAO:0000142 PMID:16123073 ; - oboInOwl:hasDbXref UMLS:C1428046 ; oboInOwl:hasExactSynonym "DEPP1", "chromosome 10 open reading frame 10", "decidual protein induced by progesterone", @@ -290391,19 +301952,22 @@ OMIM:611309 a owl:Class ; "fasting-induced gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11067 ; - skos:exactMatch HGNC_symbol:DEPP1 ; + skos:exactMatch UMLS:C1428046, + HGNC:23355, + HGNC_symbol:DEPP1 ; biolink:category biolink:Gene . OMIM:611310 a owl:Class ; rdfs:label "PSTK" ; IAO:0000142 PMID:15317934 ; - oboInOwl:hasDbXref UMLS:C1428719 ; oboInOwl:hasExactSynonym "PSTK", "chromosome 10 open reading frame", "phosphoseryl-trna kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118672 ; - skos:exactMatch HGNC_symbol:PSTK ; + skos:exactMatch UMLS:C1428719, + HGNC:28578, + HGNC_symbol:PSTK ; biolink:category biolink:Gene . OMIM:611311 a owl:Class ; @@ -290414,14 +301978,15 @@ OMIM:611312 a owl:Class ; rdfs:label "CRNN" ; IAO:0000142 PMID:11056050, PMID:15854041 ; - oboInOwl:hasDbXref UMLS:C1824796 ; oboInOwl:hasExactSynonym "CRNN", "chromosome 1 open reading frame 10", "cornulin", "pdrc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:49860 ; - skos:exactMatch HGNC_symbol:CRNN ; + skos:exactMatch UMLS:C1824796, + HGNC:1230, + HGNC_symbol:CRNN ; biolink:category biolink:Gene . OMIM:611313 a owl:Class ; @@ -290446,20 +302011,20 @@ OMIM:611313 a owl:Class ; PMID:23455636 ; RO:0002525 CHR:9606chr10q26.13 ; RO:0003303 OMIM:613778 ; - oboInOwl:hasDbXref UMLS:C1824219 ; oboInOwl:hasExactSynonym "ARMS2", "arms2 gene", "loc387715" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387715 ; - skos:exactMatch HGNC_symbol:ARMS2 ; + skos:exactMatch UMLS:C1824219, + HGNC:32685, + HGNC_symbol:ARMS2 ; biolink:category biolink:Gene . OMIM:611314 a owl:Class ; rdfs:label "HMGN2P46" ; IAO:0000142 PMID:15027122, PMID:24043589 ; - oboInOwl:hasDbXref UMLS:C1428626 ; oboInOwl:hasExactSynonym "HMGN2P46", "chromosome 15 open reading frame 21", "dpca2", @@ -290467,32 +302032,36 @@ OMIM:611314 a owl:Class ; "hmgn2 pseudogene 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283651 ; - skos:exactMatch HGNC_symbol:HMGN2P46 ; + skos:exactMatch UMLS:C1428626, + HGNC:26817, + HGNC_symbol:HMGN2P46 ; biolink:category biolink:Gene . OMIM:611315 a owl:Class ; rdfs:label "ZSCAN20" ; IAO:0000142 PMID:16429158 ; - oboInOwl:hasDbXref UMLS:C1421784 ; oboInOwl:hasExactSynonym "ZSCAN20", "kox29", "zinc finger protein 31", "zinc finger- and scan domain-containing protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7579 ; - skos:exactMatch HGNC_symbol:ZSCAN20 ; + skos:exactMatch UMLS:C1421784, + HGNC:13093, + HGNC_symbol:ZSCAN20 ; biolink:category biolink:Gene . OMIM:611316 a owl:Class ; rdfs:label "SLC12A8" ; IAO:0000142 PMID:11863360, PMID:16297188 ; - oboInOwl:hasDbXref UMLS:C1423604 ; oboInOwl:hasExactSynonym "SLC12A8", "solute carrier family 12 (sodium/potassium/chloride transporter), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84561 ; - skos:exactMatch HGNC_symbol:SLC12A8 ; + skos:exactMatch UMLS:C1423604, + HGNC:15595, + HGNC_symbol:SLC12A8 ; biolink:category biolink:Gene . OMIM:611317 a owl:Class ; @@ -290501,13 +302070,14 @@ OMIM:611317 a owl:Class ; PMID:22065524 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:615217 ; - oboInOwl:hasDbXref UMLS:C1538647 ; oboInOwl:hasExactSynonym "PIK3R5", "p101", "phosphatidylinositol 3-kinase, regulatory subunit 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23533 ; - skos:exactMatch HGNC_symbol:PIK3R5 ; + skos:exactMatch UMLS:C1538647, + HGNC:30035, + HGNC_symbol:PIK3R5 ; biolink:category biolink:Gene . OMIM:611318 a owl:Class ; @@ -290517,41 +302087,44 @@ OMIM:611318 a owl:Class ; PMID:31155615 ; RO:0002525 CHR:9606chr3q25.1 ; RO:0003303 OMIM:618872 ; - oboInOwl:hasDbXref UMLS:C1537678, - UMLS:C5394350 ; oboInOwl:hasExactSynonym "MED12L", "kiaa1635", "mediator complex subunit 12-like", "no opposite-paired repeat" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116931 ; - skos:exactMatch HGNC_symbol:MED12L ; + skos:exactMatch UMLS:C1537678, + UMLS:C5394350, + HGNC:16050, + HGNC_symbol:MED12L ; biolink:category biolink:Gene . OMIM:611319 a owl:Class ; rdfs:label "IFI27L2" ; IAO:0000142 PMID:14728724 ; - oboInOwl:hasDbXref UMLS:C1426387 ; oboInOwl:hasExactSynonym "IFI27L2", "family with sequence similarity 14, member a", "interferon-alpha-inducible protein 27-like 2", "interferon-stimulated gene 12b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83982 ; - skos:exactMatch HGNC_symbol:IFI27L2 ; + skos:exactMatch UMLS:C1426387, + HGNC:19753, + HGNC_symbol:IFI27L2 ; biolink:category biolink:Gene . OMIM:611320 a owl:Class ; rdfs:label "IFI27L1" ; IAO:0000142 PMID:14728724 ; - oboInOwl:hasDbXref UMLS:C1426388 ; oboInOwl:hasExactSynonym "IFI27L1", "family with sequence similarity 14, member B", "interferon-alpha-inducible protein 27-like 1", "interferon-stimulated gene 12c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122509 ; - skos:exactMatch HGNC_symbol:IFI27L1 ; + skos:exactMatch UMLS:C1426388, + HGNC:19754, + HGNC_symbol:IFI27L1 ; biolink:category biolink:Gene . OMIM:611321 a owl:Class ; @@ -290561,7 +302134,6 @@ OMIM:611321 a owl:Class ; PMID:12498782, PMID:16760430, PMID:17332754 ; - oboInOwl:hasDbXref UMLS:C1424968 ; oboInOwl:hasExactSynonym "CLSTN1", "alc-alpha", "alcadein, alpha", @@ -290569,7 +302141,9 @@ OMIM:611321 a owl:Class ; "kiaa0911" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22883 ; - skos:exactMatch HGNC_symbol:CLSTN1 ; + skos:exactMatch UMLS:C1424968, + HGNC:17447, + HGNC_symbol:CLSTN1 ; biolink:category biolink:Gene . OMIM:611322 a owl:Class ; @@ -290577,27 +302151,29 @@ OMIM:611322 a owl:Class ; IAO:0000142 PMID:11147971, PMID:15660130, PMID:9383053 ; - oboInOwl:hasDbXref UMLS:C1423023 ; oboInOwl:hasExactSynonym "DNAJA2", "cell cycle progression restoration 3", "dj3", "dnaj/hsp40 homolog, subfamily a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10294 ; - skos:exactMatch HGNC_symbol:DNAJA2 ; + skos:exactMatch UMLS:C1423023, + HGNC:14884, + HGNC_symbol:DNAJA2 ; biolink:category biolink:Gene . OMIM:611323 a owl:Class ; rdfs:label "CLSTN2" ; IAO:0000142 PMID:12498782 ; - oboInOwl:hasDbXref UMLS:C1424969 ; oboInOwl:hasExactSynonym "CLSTN2", "alc-gamma", "alcadein, gamma", "calsyntenin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64084 ; - skos:exactMatch HGNC_symbol:CLSTN2 ; + skos:exactMatch UMLS:C1424969, + HGNC:17448, + HGNC_symbol:CLSTN2 ; biolink:category biolink:Gene . OMIM:611324 a owl:Class ; @@ -290605,7 +302181,6 @@ OMIM:611324 a owl:Class ; IAO:0000142 PMID:12498782, PMID:31043739, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1425480 ; oboInOwl:hasExactSynonym "CLSTN3", "alc-beta", "alcadein, beta", @@ -290614,7 +302189,9 @@ OMIM:611324 a owl:Class ; "kiaa0726" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9746 ; - skos:exactMatch HGNC_symbol:CLSTN3 ; + skos:exactMatch UMLS:C1425480, + HGNC:18371, + HGNC_symbol:CLSTN3 ; biolink:category biolink:Gene . OMIM:611325 a owl:Class ; @@ -290622,7 +302199,6 @@ OMIM:611325 a owl:Class ; IAO:0000142 PMID:10231032, PMID:20869947, PMID:9383053 ; - oboInOwl:hasDbXref UMLS:C1424967 ; oboInOwl:hasExactSynonym "TBRG4", "cell cycle progression restoration 2", "fast kinase domain-containing protein 4", @@ -290630,7 +302206,9 @@ OMIM:611325 a owl:Class ; "transforming growth factor-beta regulator 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9238 ; - skos:exactMatch HGNC_symbol:TBRG4 ; + skos:exactMatch UMLS:C1424967, + HGNC:17443, + HGNC_symbol:TBRG4 ; biolink:category biolink:Gene . OMIM:611326 a owl:Class ; @@ -290638,76 +302216,82 @@ OMIM:611326 a owl:Class ; IAO:0000142 PMID:10574462, PMID:17000758, PMID:9383053 ; - oboInOwl:hasDbXref UMLS:C1539078 ; oboInOwl:hasExactSynonym "CCPG1", "cell cycle progression 1", "cell cycle progression restoration 8", "kiaa1254" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9236 ; - skos:exactMatch HGNC_symbol:CCPG1 ; + skos:exactMatch UMLS:C1539078, + HGNC:24227, + HGNC_symbol:CCPG1 ; biolink:category biolink:Gene . OMIM:611327 a owl:Class ; rdfs:label "DNAJB4" ; IAO:0000142 PMID:24293545, PMID:9546042 ; - oboInOwl:hasDbXref UMLS:C1423025 ; oboInOwl:hasExactSynonym "DNAJB4", "dnaj/hsp40 homolog, subfamily b, member 4", "human liver dnaj-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11080 ; - skos:exactMatch HGNC_symbol:DNAJB4 ; + skos:exactMatch UMLS:C1423025, + HGNC:14886, + HGNC_symbol:DNAJB4 ; biolink:category biolink:Gene . OMIM:611328 a owl:Class ; rdfs:label "DNAJB5" ; IAO:0000142 PMID:10570961 ; - oboInOwl:hasDbXref UMLS:C1423026 ; oboInOwl:hasExactSynonym "DNAJB5", "dnaj/hsp40 homolog, subfamily b, member 5", "heat shock cognate 40", "kiaa1045" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25822 ; - skos:exactMatch HGNC_symbol:DNAJB5 ; + skos:exactMatch UMLS:C1423026, + HGNC:14887, + HGNC_symbol:DNAJB5 ; biolink:category biolink:Gene . OMIM:611329 a owl:Class ; rdfs:label "SCARNA18" ; IAO:0000142 PMID:16361266 ; - oboInOwl:hasDbXref UMLS:C1822642 ; oboInOwl:hasExactSynonym "SCARNA18", "small cajal body-specific RNA 18", "snorna, u109" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677765 ; - skos:exactMatch HGNC_symbol:SCARNA18 ; + skos:exactMatch UMLS:C1822642, + HGNC:32559, + HGNC_symbol:SCARNA18 ; biolink:category biolink:Gene . OMIM:611330 a owl:Class ; rdfs:label "SNORA12" ; IAO:0000142 PMID:16361266 ; - oboInOwl:hasDbXref UMLS:C1822822 ; oboInOwl:hasExactSynonym "SNORA12", "small nucleolar rna, h/aca box, 12", "snorna, u108" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677800 ; - skos:exactMatch HGNC_symbol:SNORA12 ; + skos:exactMatch UMLS:C1822822, + HGNC:32600, + HGNC_symbol:SNORA12 ; biolink:category biolink:Gene . OMIM:611331 a owl:Class ; rdfs:label "SNORA74B" ; IAO:0000142 PMID:16361266 ; - oboInOwl:hasDbXref UMLS:C1822889 ; oboInOwl:hasExactSynonym "SNORA74B", "small nucleolar rna, h/aca box, 74b", "snorna, u19-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677841 ; - skos:exactMatch HGNC_symbol:SNORA74B ; + skos:exactMatch UMLS:C1822889, + HGNC:32660, + HGNC_symbol:SNORA74B ; biolink:category biolink:Gene . OMIM:611332 a owl:Class ; @@ -290728,76 +302312,82 @@ OMIM:611332 a owl:Class ; PMID:9973293 ; RO:0002525 CHR:9606chr7q36.3 ; RO:0003303 OMIM:603511 ; - oboInOwl:hasDbXref UMLS:C1423027 ; oboInOwl:hasExactSynonym "DNAJB6", "dj4", "dnaj/hsp40 homolog, subfamily b, member 6", "mrj" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10049 ; - skos:exactMatch HGNC_symbol:DNAJB6 ; + skos:exactMatch UMLS:C1423027, + HGNC:14888, + HGNC_symbol:DNAJB6 ; biolink:category biolink:Gene . OMIM:611333 a owl:Class ; rdfs:label "SNORA3B" ; IAO:0000142 PMID:16361266 ; - oboInOwl:hasDbXref UMLS:C1822858 ; oboInOwl:hasExactSynonym "SNORA3B", "small nucleolar rna, h/aca box, 3b", "small nucleolar rna, h/aca box, 45", "snorna, aca3-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677826 ; - skos:exactMatch HGNC_symbol:SNORA3B ; + skos:exactMatch UMLS:C1822858, + HGNC:32638, + HGNC_symbol:SNORA3B ; biolink:category biolink:Gene . OMIM:611334 a owl:Class ; rdfs:label "SNORA81" ; IAO:0000142 PMID:16361266 ; - oboInOwl:hasDbXref UMLS:C1822896 ; oboInOwl:hasExactSynonym "SNORA81", "small nucleolar rna, h/aca box, 81", "snorna, hbi-61" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677847 ; - skos:exactMatch HGNC_symbol:SNORA81 ; + skos:exactMatch UMLS:C1822896, + HGNC:32667, + HGNC_symbol:SNORA81 ; biolink:category biolink:Gene . OMIM:611335 a owl:Class ; rdfs:label "SNORA5C" ; IAO:0000142 PMID:16361266 ; - oboInOwl:hasDbXref UMLS:C1822814 ; oboInOwl:hasExactSynonym "SNORA5C", "small nucleolar rna, h/aca box, 5c", "snorna, hbi-80" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677796 ; - skos:exactMatch HGNC_symbol:SNORA5C ; + skos:exactMatch UMLS:C1822814, + HGNC:32590, + HGNC_symbol:SNORA5C ; biolink:category biolink:Gene . OMIM:611336 a owl:Class ; rdfs:label "DNAJB7" ; IAO:0000142 PMID:11147971 ; - oboInOwl:hasDbXref UMLS:C1428435 ; oboInOwl:hasExactSynonym "DNAJB7", "dj5", "dnaj/hsp40 homolog, subfamily b, member 7", "hsc3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150353 ; - skos:exactMatch HGNC_symbol:DNAJB7 ; + skos:exactMatch UMLS:C1428435, + HGNC:24986, + HGNC_symbol:DNAJB7 ; biolink:category biolink:Gene . OMIM:611337 a owl:Class ; rdfs:label "DNAJB8" ; IAO:0000142 PMID:11147971 ; - oboInOwl:hasDbXref UMLS:C1428203 ; oboInOwl:hasExactSynonym "DNAJB8", "dj6", "dnaj/hsp40 homolog, subfamily b, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:165721 ; - skos:exactMatch HGNC_symbol:DNAJB8 ; + skos:exactMatch UMLS:C1428203, + HGNC:23699, + HGNC_symbol:DNAJB8 ; biolink:category biolink:Gene . OMIM:611338 a owl:Class ; @@ -290808,7 +302398,6 @@ OMIM:611338 a owl:Class ; PMID:16183633, PMID:21177865, PMID:30661429 ; - oboInOwl:hasDbXref UMLS:C1427125 ; oboInOwl:hasExactSynonym "ATG4B", "apg4, s. cerevisiae, homolog of, B", "autl1", @@ -290818,7 +302407,9 @@ OMIM:611338 a owl:Class ; "kiaa0943" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23192 ; - skos:exactMatch HGNC_symbol:ATG4B ; + skos:exactMatch UMLS:C1427125, + HGNC:20790, + HGNC_symbol:ATG4B ; biolink:category biolink:Gene . OMIM:611339 a owl:Class ; @@ -290827,7 +302418,6 @@ OMIM:611339 a owl:Class ; PMID:17442669, PMID:21177865, PMID:30661429 ; - oboInOwl:hasDbXref UMLS:C1825495 ; oboInOwl:hasExactSynonym "ATG4C", "apg4, s. cerevisiae, homolog of, c", "autl3", @@ -290836,7 +302426,9 @@ OMIM:611339 a owl:Class ; "autophagy-related 4c cysteine peptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84938 ; - skos:exactMatch HGNC_symbol:ATG4C ; + skos:exactMatch UMLS:C1825495, + HGNC:16040, + HGNC_symbol:ATG4C ; biolink:category biolink:Gene . OMIM:611340 a owl:Class ; @@ -290847,7 +302439,6 @@ OMIM:611340 a owl:Class ; PMID:25875846, PMID:28583040, PMID:30661429 ; - oboInOwl:hasDbXref UMLS:C1825496 ; oboInOwl:hasExactSynonym "ATG4D", "apg4, s. cerevisiae, homolog of, d", "autl4", @@ -290856,7 +302447,9 @@ OMIM:611340 a owl:Class ; "autophagy-related 4d cysteine peptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84971 ; - skos:exactMatch HGNC_symbol:ATG4D ; + skos:exactMatch UMLS:C1825496, + HGNC:20789, + HGNC_symbol:ATG4D ; biolink:category biolink:Gene . OMIM:611341 a owl:Class ; @@ -290867,7 +302460,6 @@ OMIM:611341 a owl:Class ; PMID:29706351 ; RO:0002525 CHR:9606chr3q27.3 ; RO:0003303 OMIM:618061 ; - oboInOwl:hasDbXref UMLS:C1423028 ; oboInOwl:hasExactSynonym "DNAJB11", "apobec1-binding protein 2", "dj9", @@ -290875,41 +302467,46 @@ OMIM:611341 a owl:Class ; "human endoplasmic reticulum-associated dnaj" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51726 ; - skos:exactMatch HGNC_symbol:DNAJB11 ; + skos:exactMatch UMLS:C1423028, + HGNC:14889, + HGNC_symbol:DNAJB11 ; biolink:category biolink:Gene . OMIM:611342 a owl:Class ; rdfs:label "C9ORF64" ; IAO:0000142 PMID:16015647 ; - oboInOwl:hasDbXref UMLS:C1428674 ; oboInOwl:hasExactSynonym "C9ORF64", "chromosome 9 open reading frame 64" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84267 ; - skos:exactMatch HGNC_symbol:C9orf64 ; + skos:exactMatch UMLS:C1428674, + HGNC:28144, + HGNC_symbol:C9orf64 ; biolink:category biolink:Gene . OMIM:611343 a owl:Class ; rdfs:label "IDNK" ; IAO:0000142 PMID:16015647 ; - oboInOwl:hasDbXref UMLS:C1538339 ; oboInOwl:hasExactSynonym "IDNK", "chromosome 9 open reading frame 103", "idnk gluconokinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:414328 ; - skos:exactMatch HGNC_symbol:IDNK ; + skos:exactMatch UMLS:C1538339, + HGNC:31367, + HGNC_symbol:IDNK ; biolink:category biolink:Gene . OMIM:611344 a owl:Class ; rdfs:label "RASEF" ; IAO:0000142 PMID:16015647 ; - oboInOwl:hasDbXref UMLS:C1538784 ; oboInOwl:hasExactSynonym "RASEF", "ras and ef-hand domains-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158158 ; - skos:exactMatch HGNC_symbol:RASEF ; + skos:exactMatch UMLS:C1538784, + HGNC:26464, + HGNC_symbol:RASEF ; biolink:category biolink:Gene . OMIM:611345 a owl:Class ; @@ -290921,36 +302518,37 @@ OMIM:611345 a owl:Class ; PMID:31428919 ; RO:0002525 CHR:9606chr7p22.3 ; RO:0003303 OMIM:618571 ; - oboInOwl:hasDbXref UMLS:C1825603, - UMLS:C5231414 ; oboInOwl:hasExactSynonym "INTS1", "int1", "integrator complex subunit 1", "kiaa1440" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26173 ; - skos:exactMatch HGNC_symbol:INTS1 ; + skos:exactMatch UMLS:C1825603, + UMLS:C5231414, + HGNC:24555, + HGNC_symbol:INTS1 ; biolink:category biolink:Gene . OMIM:611346 a owl:Class ; rdfs:label "INTS2" ; IAO:0000142 PMID:10574462, PMID:16239144 ; - oboInOwl:hasDbXref UMLS:C1825604 ; oboInOwl:hasExactSynonym "INTS2", "int2", "integrator complex subunit 2", "kiaa1287" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57508 ; - skos:exactMatch HGNC_symbol:INTS2 ; + skos:exactMatch UMLS:C1825604, + HGNC:29241, + HGNC_symbol:INTS2 ; biolink:category biolink:Gene . OMIM:611347 a owl:Class ; rdfs:label "INTS3" ; IAO:0000142 PMID:16239144, PMID:19683501 ; - oboInOwl:hasDbXref UMLS:C1825605 ; oboInOwl:hasExactSynonym "INTS3", "int3", "integrator complex subunit 3", @@ -290958,45 +302556,50 @@ OMIM:611347 a owl:Class ; "soss complex, subunit a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65123 ; - skos:exactMatch HGNC_symbol:INTS3 ; + skos:exactMatch UMLS:C1825605, + HGNC:26153, + HGNC_symbol:INTS3 ; biolink:category biolink:Gene . OMIM:611348 a owl:Class ; rdfs:label "INTS4" ; IAO:0000142 PMID:16239144 ; - oboInOwl:hasDbXref UMLS:C1825606 ; oboInOwl:hasExactSynonym "INTS4", "int4", "integrator complex subunit 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92105 ; - skos:exactMatch HGNC_symbol:INTS4 ; + skos:exactMatch UMLS:C1825606, + HGNC:25048, + HGNC_symbol:INTS4 ; biolink:category biolink:Gene . OMIM:611349 a owl:Class ; rdfs:label "INTS5" ; IAO:0000142 PMID:11214970, PMID:16239144 ; - oboInOwl:hasDbXref UMLS:C1825607 ; oboInOwl:hasExactSynonym "INTS5", "int5", "integrator complex subunit 5", "kiaa1698" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80789 ; - skos:exactMatch HGNC_symbol:INTS5 ; + skos:exactMatch UMLS:C1825607, + HGNC:29352, + HGNC_symbol:INTS5 ; biolink:category biolink:Gene . OMIM:611350 a owl:Class ; rdfs:label "INTS7" ; IAO:0000142 PMID:16239144 ; - oboInOwl:hasDbXref UMLS:C1825609 ; oboInOwl:hasExactSynonym "INTS7", "int7", "integrator complex subunit 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25896 ; - skos:exactMatch HGNC_symbol:INTS7 ; + skos:exactMatch UMLS:C1825609, + HGNC:24484, + HGNC_symbol:INTS7 ; biolink:category biolink:Gene . OMIM:611351 a owl:Class ; @@ -291005,80 +302608,86 @@ OMIM:611351 a owl:Class ; PMID:28542170 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:618572 ; - oboInOwl:hasDbXref UMLS:C1825610 ; oboInOwl:hasExactSynonym "INTS8", "int8", "integrator complex subunit 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55656 ; - skos:exactMatch HGNC_symbol:INTS8 ; + skos:exactMatch UMLS:C1825610, + HGNC:26048, + HGNC_symbol:INTS8 ; biolink:category biolink:Gene . OMIM:611352 a owl:Class ; rdfs:label "INTS9" ; IAO:0000142 PMID:15684398, PMID:16239144 ; - oboInOwl:hasDbXref UMLS:C1969781 ; oboInOwl:hasExactSynonym "INTS9", "int9", "integrator complex subunit 9", "related to cpsf subunits, 74-kd protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55756 ; - skos:exactMatch HGNC_symbol:INTS9 ; + skos:exactMatch UMLS:C1969781, + HGNC:25592, + HGNC_symbol:INTS9 ; biolink:category biolink:Gene . OMIM:611353 a owl:Class ; rdfs:label "INTS10" ; IAO:0000142 PMID:16239144, PMID:27244555 ; - oboInOwl:hasDbXref UMLS:C1825611 ; oboInOwl:hasExactSynonym "INTS10", "int10", "integrator complex subunit 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55174 ; - skos:exactMatch HGNC_symbol:INTS10 ; + skos:exactMatch UMLS:C1825611, + HGNC:25548, + HGNC_symbol:INTS10 ; biolink:category biolink:Gene . OMIM:611354 a owl:Class ; rdfs:label "CPSF3L" ; IAO:0000142 PMID:15684398, PMID:16239144 ; - oboInOwl:hasDbXref UMLS:C1824786 ; oboInOwl:hasExactSynonym "CPSF3L", "cleavage and polyadenylation-specific factor 3-like", "integrator complex subunit 11", "related to cpsf subunits, 68-kd protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54973 ; - skos:exactMatch HGNC_symbol:INTS11 ; + skos:exactMatch UMLS:C1824786, + HGNC:26052, + HGNC_symbol:INTS11 ; biolink:category biolink:Gene . OMIM:611355 a owl:Class ; rdfs:label "INTS12" ; IAO:0000142 PMID:16239144, PMID:24058608 ; - oboInOwl:hasDbXref UMLS:C1825612 ; oboInOwl:hasExactSynonym "INTS12", "int12", "integrator complex subunit 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57117 ; - skos:exactMatch HGNC_symbol:INTS12 ; + skos:exactMatch UMLS:C1825612, + HGNC:25067, + HGNC_symbol:INTS12 ; biolink:category biolink:Gene . OMIM:611356 a owl:Class ; rdfs:label "GKAP1" ; IAO:0000142 PMID:10671526, PMID:16015647 ; - oboInOwl:hasDbXref UMLS:C1539570 ; oboInOwl:hasExactSynonym "GKAP1", "cgmp-dependent protein kinase-anchoring protein, 42-kd", "g kinase-anchoring protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80318 ; - skos:exactMatch HGNC_symbol:GKAP1 ; + skos:exactMatch UMLS:C1539570, + HGNC:17496, + HGNC_symbol:GKAP1 ; biolink:category biolink:Gene . OMIM:611357 a owl:Class ; @@ -291088,14 +302697,15 @@ OMIM:611357 a owl:Class ; PMID:29358272 ; RO:0002525 CHR:9606chr6q14.1 ; RO:0003303 OMIM:617952 ; - oboInOwl:hasDbXref UMLS:C1539443 ; oboInOwl:hasExactSynonym "TENT5A", "chromosome 6 open reading frame 37", "family with sequence similarity 46, member a", "terminal nucleotidyltransferase 5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55603 ; - skos:exactMatch HGNC_symbol:TENT5A ; + skos:exactMatch UMLS:C1539443, + HGNC:18345, + HGNC_symbol:TENT5A ; biolink:category biolink:Gene . OMIM:611358 a owl:Class ; @@ -291105,27 +302715,29 @@ OMIM:611358 a owl:Class ; PMID:27535533, PMID:28135719, PMID:30665703 ; - oboInOwl:hasDbXref UMLS:C1427373 ; oboInOwl:hasExactSynonym "RNF135", "ring finger protein 135", "riplet" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84282 ; - skos:exactMatch HGNC_symbol:RNF135 ; + skos:exactMatch UMLS:C1427373, + HGNC:21158, + HGNC_symbol:RNF135 ; biolink:category biolink:Gene . OMIM:611359 a owl:Class ; rdfs:label "AMBRA1" ; IAO:0000142 PMID:11214970, PMID:17589504 ; - oboInOwl:hasDbXref UMLS:C1969662 ; oboInOwl:hasExactSynonym "AMBRA1", "activating molecule 1n beclin 1-regulated autophagy", "ddb1- and cul4-associated factor 3", "kiaa1736" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55626 ; - skos:exactMatch HGNC_symbol:AMBRA1 ; + skos:exactMatch UMLS:C1969662, + HGNC:25990, + HGNC_symbol:AMBRA1 ; biolink:category biolink:Gene . OMIM:611360 a owl:Class ; @@ -291141,116 +302753,125 @@ OMIM:611360 a owl:Class ; PMID:32269332 ; RO:0002525 CHR:9606chr15q26.1 ; RO:0003303 OMIM:609053 ; - oboInOwl:hasDbXref UMLS:C1825278, - UMLS:C1836861 ; oboInOwl:hasExactSynonym "FANCI", "fanci gene", "kiaa1794" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55215 ; - skos:exactMatch HGNC_symbol:FANCI ; + skos:exactMatch UMLS:C1825278, + UMLS:C1836861, + HGNC:25568, + HGNC_symbol:FANCI ; biolink:category biolink:Gene . OMIM:611361 a owl:Class ; rdfs:label "UBA6" ; IAO:0000142 PMID:17597759, PMID:17889673 ; - oboInOwl:hasDbXref UMLS:C1823564 ; oboInOwl:hasExactSynonym "UBA6", "ubiquitin-activating enzyme 6", "ubiquitin-activating enzyme e1-like 2", "ubiquitin-like modifier-activating enzyme 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55236 ; - skos:exactMatch HGNC_symbol:UBA6 ; + skos:exactMatch UMLS:C1823564, + HGNC:25581, + HGNC_symbol:UBA6 ; biolink:category biolink:Gene . OMIM:611362 a owl:Class ; rdfs:label "UBE2Z" ; IAO:0000142 PMID:17597759 ; - oboInOwl:hasDbXref UMLS:C1823577 ; oboInOwl:hasExactSynonym "UBE2Z", "uba6-specific e2", "ubiquitin-conjugating enzyme e2z" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65264 ; - skos:exactMatch HGNC_symbol:UBE2Z ; + skos:exactMatch UMLS:C1823577, + HGNC:25847, + HGNC_symbol:UBE2Z ; biolink:category biolink:Gene . OMIM:611365 a owl:Class ; rdfs:label "TMEM183B" ; IAO:0000142 PMID:16644869 ; - oboInOwl:hasDbXref UMLS:C1823448 ; oboInOwl:hasExactSynonym "TMEM183B", "c1orf37dup", "transmembrane protein 183b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653659 ; - skos:exactMatch HGNC_symbol:TMEM183BP ; + skos:exactMatch UMLS:C1823448, + HGNC:33205, + HGNC_symbol:TMEM183BP ; biolink:category biolink:Gene . OMIM:611366 a owl:Class ; rdfs:label "MYG1" ; IAO:0000142 PMID:16996721 ; - oboInOwl:hasDbXref UMLS:C1425007 ; oboInOwl:hasExactSynonym "MYG1", "chromosome 12 open reading frame 10", "melanocyte proliferating gene 1, mouse, homolog of", "myg1 exonuclease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60314 ; - skos:exactMatch HGNC_symbol:MYG1 ; + skos:exactMatch UMLS:C1425007, + HGNC:17590, + HGNC_symbol:MYG1 ; biolink:category biolink:Gene . OMIM:611367 a owl:Class ; rdfs:label "DNPEP" ; IAO:0000142 PMID:21576357, PMID:9632644 ; - oboInOwl:hasDbXref UMLS:C1414125 ; oboInOwl:hasExactSynonym "DNPEP", "aspartyl aminopeptidase", "aspep" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23549 ; - skos:exactMatch HGNC_symbol:DNPEP ; + skos:exactMatch UMLS:C1414125, + HGNC:2981, + HGNC_symbol:DNPEP ; biolink:category biolink:Gene . OMIM:611368 a owl:Class ; rdfs:label "MAEL" ; IAO:0000142 PMID:12538514, PMID:18694567 ; - oboInOwl:hasDbXref UMLS:C1825933 ; oboInOwl:hasExactSynonym "MAEL", "maelstrom spermatogenic transposon silencer", "maelstrom, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84944 ; - skos:exactMatch HGNC_symbol:MAEL ; + skos:exactMatch UMLS:C1825933, + HGNC:25929, + HGNC_symbol:MAEL ; biolink:category biolink:Gene . OMIM:611370 a owl:Class ; rdfs:label "FGGY" ; IAO:0000142 PMID:17671248, PMID:27909055 ; - oboInOwl:hasDbXref UMLS:C1969654 ; oboInOwl:hasExactSynonym "FGGY", "fggy carbohydrate kinase domain-containing protein", "flj10986" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55277 ; - skos:exactMatch HGNC_symbol:FGGY ; + skos:exactMatch UMLS:C1969654, + HGNC:25610, + HGNC_symbol:FGGY ; biolink:category biolink:Gene . OMIM:611371 a owl:Class ; rdfs:label "ZNF653" ; IAO:0000142 PMID:12920234 ; - oboInOwl:hasDbXref UMLS:C1538221 ; oboInOwl:hasExactSynonym "ZNF653", "zinc finger protein 653", "zip67" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115950 ; - skos:exactMatch HGNC_symbol:ZNF653 ; + skos:exactMatch UMLS:C1538221, + HGNC:25196, + HGNC_symbol:ZNF653 ; biolink:category biolink:Gene . OMIM:611372 a owl:Class ; @@ -291259,26 +302880,28 @@ OMIM:611372 a owl:Class ; PMID:15659652, PMID:25281535, PMID:9644265 ; - oboInOwl:hasDbXref UMLS:C1426301 ; oboInOwl:hasExactSynonym "SMAP1", "small adp-ribosylation factor gtpase-activating protein 1", "small arfgap 1", "stromal membrane-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60682 ; - skos:exactMatch HGNC_symbol:SMAP1 ; + skos:exactMatch UMLS:C1426301, + HGNC:19651, + HGNC_symbol:SMAP1 ; biolink:category biolink:Gene . OMIM:611373 a owl:Class ; rdfs:label "LEAP2" ; IAO:0000142 PMID:12493837, PMID:31424424 ; - oboInOwl:hasDbXref UMLS:C1825807 ; oboInOwl:hasExactSynonym "LEAP2", "liver-expressed antimicrobial peptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116842 ; - skos:exactMatch HGNC_symbol:LEAP2 ; + skos:exactMatch UMLS:C1825807, + HGNC:29571, + HGNC_symbol:LEAP2 ; biolink:category biolink:Gene . OMIM:611374 a owl:Class ; @@ -291287,14 +302910,15 @@ OMIM:611374 a owl:Class ; PMID:21205967, PMID:21558425, PMID:24899310 ; - oboInOwl:hasDbXref UMLS:C1537746 ; oboInOwl:hasExactSynonym "MIR34B", "micro RNA 34b", "mirn34b", "mirna34b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407041 ; - skos:exactMatch HGNC_symbol:MIR34B ; + skos:exactMatch UMLS:C1537746, + HGNC:31636, + HGNC_symbol:MIR34B ; biolink:category biolink:Gene . OMIM:611375 a owl:Class ; @@ -291304,14 +302928,15 @@ OMIM:611375 a owl:Class ; PMID:21558425, PMID:22498974, PMID:24899310 ; - oboInOwl:hasDbXref UMLS:C1537747 ; oboInOwl:hasExactSynonym "MIR34C", "micro RNA 34c", "mirn34c", "mirna34c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407042 ; - skos:exactMatch HGNC_symbol:MIR34C ; + skos:exactMatch UMLS:C1537747, + HGNC:31637, + HGNC_symbol:MIR34C ; biolink:category biolink:Gene . OMIM:611376 a owl:Class ; @@ -291320,22 +302945,22 @@ OMIM:611376 a owl:Class ; PMID:17487221, PMID:25575569 ; RO:0002525 CHR:9606chr8q23-q24 ; - oboInOwl:hasDbXref UMLS:C1969653 ; oboInOwl:hasExactSynonym "MGS", "mungan syndrome", "pseudoobstruction, chronic idiopathic intestinal, with barrett esophagus and cardiac abnormalities", "visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, barrett esophagus, and cardiac abnormalities" ; + skos:exactMatch UMLS:C1969653 ; biolink:category biolink:Disease . OMIM:611377 a owl:Class ; rdfs:label "brachydactyly, iia b2" ; IAO:0000142 PMID:17668388, PMID:4648959 ; - oboInOwl:hasDbXref UMLS:C1969652, - ORPHA:140908, - ORPHA:93383 ; oboInOwl:hasExactSynonym "BDB2", "brachydactyly, iia b2" ; + skos:exactMatch UMLS:C1969652, + ORPHA:140908, + ORPHA:93383 ; biolink:category biolink:Disease . OMIM:611379 a owl:Class ; @@ -291344,28 +302969,30 @@ OMIM:611379 a owl:Class ; PMID:17236128 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:136630 ; - oboInOwl:hasDbXref UMLS:C1824938 ; oboInOwl:hasExactSynonym "DIP2B", "disco-interacting protein 2 homolog B", "disco-interacting protein 2, drosophila, homolog of, B", "kiaa1463" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57609 ; - skos:exactMatch HGNC_symbol:DIP2B ; + skos:exactMatch UMLS:C1824938, + HGNC:29284, + HGNC_symbol:DIP2B ; biolink:category biolink:Gene . OMIM:611380 a owl:Class ; rdfs:label "DIP2C" ; IAO:0000142 PMID:10231032, PMID:17236128 ; - oboInOwl:hasDbXref UMLS:C1824939 ; oboInOwl:hasExactSynonym "DIP2C", "disco-interacting protein 2 homolog c", "disco-interacting protein 2, drosophila, homolog of, c", "kiaa0934" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22982 ; - skos:exactMatch HGNC_symbol:DIP2C ; + skos:exactMatch UMLS:C1824939, + HGNC:29150, + HGNC_symbol:DIP2C ; biolink:category biolink:Gene . OMIM:611385 a owl:Class ; @@ -291390,14 +303017,15 @@ OMIM:611386 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr20q13.13 ; RO:0003303 OMIM:615873 ; - oboInOwl:hasDbXref UMLS:C1423715 ; oboInOwl:hasExactSynonym "ADNP", "activity-dependent neuroprotector homeobox", "adnp1", "kiaa0784" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23394 ; - skos:exactMatch HGNC_symbol:ADNP ; + skos:exactMatch UMLS:C1423715, + HGNC:15766, + HGNC_symbol:ADNP ; biolink:category biolink:Gene . OMIM:611387 a owl:Class ; @@ -291405,33 +303033,34 @@ OMIM:611387 a owl:Class ; IAO:0000142 PMID:16455961, PMID:16989774, PMID:25411203 ; - oboInOwl:hasDbXref UMLS:C1969646 ; oboInOwl:hasExactSynonym "CXCL17", "cxc chemokine ligand 17", "dendritic cell and monocyte chemokine-like protein", "vegf coregulated chemokine 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284340 ; - skos:exactMatch HGNC_symbol:CXCL17 ; + skos:exactMatch UMLS:C1969646, + HGNC:19232, + HGNC_symbol:CXCL17 ; biolink:category biolink:Gene . OMIM:611388 a owl:Class ; rdfs:label "DNTTIP1" ; IAO:0000142 PMID:11473582 ; - oboInOwl:hasDbXref UMLS:C1424037 ; oboInOwl:hasExactSynonym "DNTTIP1", "chromosome 20 open reading frame 167", "deoxynucleotidyltransferase, terminal, interacting protein 1", "tdt-interacting factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116092 ; - skos:exactMatch HGNC_symbol:DNTTIP1 ; + skos:exactMatch UMLS:C1424037, + HGNC:16160, + HGNC_symbol:DNTTIP1 ; biolink:category biolink:Gene . OMIM:611389 a owl:Class ; rdfs:label "PRICKLE4" ; IAO:0000142 PMID:15702247 ; - oboInOwl:hasDbXref UMLS:C1332658 ; oboInOwl:hasExactSynonym "PRICKLE4", "chromosome 6, open reading frame 49", "overexpressed breast tumor protein", @@ -291440,69 +303069,76 @@ OMIM:611389 a owl:Class ; "prickle-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29964 ; - skos:exactMatch HGNC_symbol:PRICKLE4 ; + skos:exactMatch UMLS:C1332658, + HGNC:16805, + HGNC_symbol:PRICKLE4 ; biolink:category biolink:Gene . OMIM:611392 a owl:Class ; rdfs:label "ADO" ; IAO:0000142 PMID:17581819, PMID:31273118 ; - oboInOwl:hasDbXref UMLS:C1428110 ; oboInOwl:hasExactSynonym "2-aminoethanethiol dioxygenase", "ADO", "chromosome 10 open reading frame 22", "cysteamine dioxygenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84890 ; - skos:exactMatch HGNC_symbol:ADO ; + skos:exactMatch UMLS:C1428110, + HGNC:23506, + HGNC_symbol:ADO ; biolink:category biolink:Gene . OMIM:611393 a owl:Class ; rdfs:label "FAM110A" ; IAO:0000142 PMID:17499476 ; - oboInOwl:hasDbXref UMLS:C1424065 ; oboInOwl:hasExactSynonym "FAM110A", "chromosome 20 open reading frame 55", "family with sequence similarity 110, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83541 ; - skos:exactMatch HGNC_symbol:FAM110A ; + skos:exactMatch UMLS:C1424065, + HGNC:16188, + HGNC_symbol:FAM110A ; biolink:category biolink:Gene . OMIM:611394 a owl:Class ; rdfs:label "FAM110B" ; IAO:0000142 PMID:17499476 ; - oboInOwl:hasDbXref UMLS:C1824280 ; oboInOwl:hasExactSynonym "FAM110B", "chromosome 8 open reading frame 72", "family with sequence similarity 110, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90362 ; - skos:exactMatch HGNC_symbol:FAM110B ; + skos:exactMatch UMLS:C1824280, + HGNC:28587, + HGNC_symbol:FAM110B ; biolink:category biolink:Gene . OMIM:611395 a owl:Class ; rdfs:label "FAM110C" ; IAO:0000142 PMID:17499476 ; - oboInOwl:hasDbXref UMLS:C1969643 ; oboInOwl:hasExactSynonym "FAM110C", "family with sequence similarity 110, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642273 ; - skos:exactMatch HGNC_symbol:FAM110C ; + skos:exactMatch UMLS:C1969643, + HGNC:33340, + HGNC_symbol:FAM110C ; biolink:category biolink:Gene . OMIM:611396 a owl:Class ; rdfs:label "ADIG" ; IAO:0000142 PMID:15567149, PMID:16132694 ; - oboInOwl:hasDbXref UMLS:C1969642 ; oboInOwl:hasExactSynonym "ADIG", "adipogenin", "small adipocyte factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149685 ; - skos:exactMatch HGNC_symbol:ADIG ; + skos:exactMatch UMLS:C1969642, + HGNC:28606, + HGNC_symbol:ADIG ; biolink:category biolink:Gene . OMIM:611397 a owl:Class ; @@ -291510,14 +303146,15 @@ OMIM:611397 a owl:Class ; IAO:0000142 PMID:11214970, PMID:15673434, PMID:21068316 ; - oboInOwl:hasDbXref UMLS:C1823226 ; oboInOwl:hasExactSynonym "TANC1", "kiaa1728", "tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 1", "tpr domain-, ankyrin repeat-, and coiled-coil-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85461 ; - skos:exactMatch HGNC_symbol:TANC1 ; + skos:exactMatch UMLS:C1823226, + HGNC:29364, + HGNC_symbol:TANC1 ; biolink:category biolink:Gene . OMIM:611398 a owl:Class ; @@ -291525,14 +303162,15 @@ OMIM:611398 a owl:Class ; IAO:0000142 PMID:30665704 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:618449 ; - oboInOwl:hasDbXref UMLS:C1539549 ; oboInOwl:hasExactSynonym "GAS2L2", "gas2-related on chromosome 17", "gas2-related protein", "growth arrest-specific 2-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246176 ; - skos:exactMatch HGNC_symbol:GAS2L2 ; + skos:exactMatch UMLS:C1539549, + HGNC:24846, + HGNC_symbol:GAS2L2 ; biolink:category biolink:Gene . OMIM:611399 a owl:Class ; @@ -291540,13 +303178,14 @@ OMIM:611399 a owl:Class ; IAO:0000142 PMID:15797711, PMID:17963220, PMID:24285566 ; - oboInOwl:hasDbXref UMLS:C1822655 ; oboInOwl:hasExactSynonym "SCLT1", "clathrin-associated protein 1a", "sodium channel and clathrin linker 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132320 ; - skos:exactMatch HGNC_symbol:SCLT1 ; + skos:exactMatch UMLS:C1822655, + HGNC:26406, + HGNC_symbol:SCLT1 ; biolink:category biolink:Gene . OMIM:611400 a owl:Class ; @@ -291554,7 +303193,6 @@ OMIM:611400 a owl:Class ; IAO:0000142 PMID:17604720, PMID:20393566, PMID:20616235 ; - oboInOwl:hasDbXref UMLS:C1969641 ; oboInOwl:hasExactSynonym "HOTAIR", "hox antisense intergenic RNA", "hox transcript antisense rna, noncoding", @@ -291562,80 +303200,87 @@ OMIM:611400 a owl:Class ; "long intergenic noncoding RNA hotair" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100124700 ; - skos:exactMatch HGNC_symbol:HOTAIR ; + skos:exactMatch UMLS:C1969641, + HGNC:33510, + HGNC_symbol:HOTAIR ; biolink:category biolink:Gene . OMIM:611401 a owl:Class ; rdfs:label "C6ORF15" ; IAO:0000142 PMID:11178745, PMID:15217361 ; - oboInOwl:hasDbXref UMLS:C1422277 ; oboInOwl:hasExactSynonym "C6ORF15", "chromosome 6 open reading frame 15", "simian taste bud-specific gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29113 ; - skos:exactMatch HGNC_symbol:C6orf15 ; + skos:exactMatch UMLS:C1422277, + HGNC:13927, + HGNC_symbol:C6orf15 ; biolink:category biolink:Gene . OMIM:611402 a owl:Class ; rdfs:label "DOK6" ; IAO:0000142 PMID:15286081 ; - oboInOwl:hasDbXref UMLS:C1539310 ; oboInOwl:hasExactSynonym "DOK6", "docking protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220164 ; - skos:exactMatch HGNC_symbol:DOK6 ; + skos:exactMatch UMLS:C1539310, + HGNC:28301, + HGNC_symbol:DOK6 ; biolink:category biolink:Gene . OMIM:611404 a owl:Class ; rdfs:label "LY6G6F" ; IAO:0000142 PMID:12852788 ; - oboInOwl:hasDbXref UMLS:C1422281 ; oboInOwl:hasExactSynonym "LY6G6F", "chromosome 6 open reading frame 21", "g6f protein", "lymphocyte antigen 6 family, member g6f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259215 ; - skos:exactMatch HGNC_symbol:LY6G6F ; + skos:exactMatch UMLS:C1422281, + HGNC:13933, + HGNC_symbol:LY6G6F ; biolink:category biolink:Gene . OMIM:611405 a owl:Class ; rdfs:label "RCL1" ; IAO:0000142 PMID:10790377, PMID:11565748 ; - oboInOwl:hasDbXref UMLS:C1425036 ; oboInOwl:hasExactSynonym "RCL1", "RNA terminal phosphate cyclase-like 1", "rnac", "rpcl1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10171 ; - skos:exactMatch HGNC_symbol:RCL1 ; + skos:exactMatch UMLS:C1425036, + HGNC:17687, + HGNC_symbol:RCL1 ; biolink:category biolink:Gene . OMIM:611406 a owl:Class ; rdfs:label "DYNC1LI2" ; IAO:0000142 PMID:10893222, PMID:7738094 ; - oboInOwl:hasDbXref UMLS:C1825009 ; oboInOwl:hasExactSynonym "DYNC1LI2", "dynein, cytoplasmic 1, light intermediate chain 2", "lic2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1783 ; - skos:exactMatch HGNC_symbol:DYNC1LI2 ; + skos:exactMatch UMLS:C1825009, + HGNC:2966, + HGNC_symbol:DYNC1LI2 ; biolink:category biolink:Gene . OMIM:611407 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1w" ; IAO:0000142 PMID:11815424 ; - oboInOwl:hasDbXref UMLS:C1969639 ; oboInOwl:hasExactSynonym "CMD1W", "cardiomyopathy, dilated, 1w" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1969639 ; biolink:category biolink:Disease . OMIM:611408 a owl:Class ; @@ -291648,7 +303293,6 @@ OMIM:611408 a owl:Class ; PMID:19800048 ; RO:0002525 CHR:9606chr6q14.1 ; RO:0003303 OMIM:604537 ; - oboInOwl:hasDbXref UMLS:C1537529 ; oboInOwl:hasExactSynonym "LCA5", "chromosome 6 open reading frame 152", "lca5 gene", @@ -291656,7 +303300,9 @@ OMIM:611408 a owl:Class ; "leberilin lca5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:167691 ; - skos:exactMatch HGNC_symbol:LCA5 ; + skos:exactMatch UMLS:C1537529, + HGNC:31923, + HGNC_symbol:LCA5 ; biolink:category biolink:Gene . OMIM:611409 a owl:Class ; @@ -291699,10 +303345,6 @@ OMIM:611409 a owl:Class ; PMID:8980282 ; RO:0002525 CHR:9606chr15q12-q13.1 ; RO:0003303 OMIM:227220 ; - oboInOwl:hasDbXref UMLS:C0268495, - UMLS:C0268497, - UMLS:C1417925, - UMLS:C1856895 ; oboInOwl:hasExactSynonym "OCA2", "oca2 gene", "oca2 melanosomal transmembrane protein", @@ -291710,7 +303352,12 @@ OMIM:611409 a owl:Class ; "pink-eyed dilution" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4948 ; - skos:exactMatch HGNC_symbol:OCA2 ; + skos:exactMatch UMLS:C0268495, + UMLS:C0268497, + UMLS:C1417925, + UMLS:C1856895, + HGNC:8101, + HGNC_symbol:OCA2 ; biolink:category biolink:Gene . OMIM:611410 a owl:Class ; @@ -291721,7 +303368,6 @@ OMIM:611410 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr6p22.3 ; RO:0003303 OMIM:607017 ; - oboInOwl:hasDbXref UMLS:C1422247 ; oboInOwl:hasExactSynonym "RIPOR2", "chromosome 6 open reading frame 32", "family with sequence similarity 65, member B", @@ -291730,7 +303376,9 @@ OMIM:611410 a owl:Class ; "rho family-interacting cell polarization regulator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9750 ; - skos:exactMatch HGNC_symbol:RIPOR2 ; + skos:exactMatch UMLS:C1422247, + HGNC:13872, + HGNC_symbol:RIPOR2 ; biolink:category biolink:Gene . OMIM:611411 a owl:Class ; @@ -291738,20 +303386,20 @@ OMIM:611411 a owl:Class ; IAO:0000142 PMID:17015467, PMID:21084482, PMID:7642608 ; - oboInOwl:hasDbXref UMLS:C1413104 ; oboInOwl:hasExactSynonym "CAMKK1", "calcium/calmodulin-dependent protein kinase kinase 1, alpha", "camkk-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84254 ; - skos:exactMatch HGNC_symbol:CAMKK1 ; + skos:exactMatch UMLS:C1413104, + HGNC:1469, + HGNC_symbol:CAMKK1 ; biolink:category biolink:Gene . OMIM:611412 a owl:Class ; rdfs:label "NPL" ; IAO:0000142 PMID:11318611, PMID:16147865 ; - oboInOwl:hasDbXref UMLS:C1424540 ; oboInOwl:hasExactSynonym "NPL", "c112", "chromosome 1 open reading frame 13", @@ -291759,7 +303407,9 @@ OMIM:611412 a owl:Class ; "n-acetylneuraminate pyruvate lyase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80896 ; - skos:exactMatch HGNC_symbol:NPL ; + skos:exactMatch UMLS:C1424540, + HGNC:16781, + HGNC_symbol:NPL ; biolink:category biolink:Gene . OMIM:611413 a owl:Class ; @@ -291768,13 +303418,14 @@ OMIM:611413 a owl:Class ; PMID:17713528, PMID:23744950, PMID:9115257 ; - oboInOwl:hasDbXref UMLS:C1428966 ; oboInOwl:hasExactSynonym "DLGAP3", "discs large-associated protein 3", "sap90/psd95-associated protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58512 ; - skos:exactMatch HGNC_symbol:DLGAP3 ; + skos:exactMatch UMLS:C1428966, + HGNC:30368, + HGNC_symbol:DLGAP3 ; biolink:category biolink:Gene . OMIM:611414 a owl:Class ; @@ -291782,13 +303433,14 @@ OMIM:611414 a owl:Class ; IAO:0000142 PMID:12384296, PMID:17655857, PMID:29988065 ; - oboInOwl:hasDbXref UMLS:C1426922 ; oboInOwl:hasExactSynonym "CALR3", "calreticulin 2", "calreticulin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125972 ; - skos:exactMatch HGNC_symbol:CALR3 ; + skos:exactMatch UMLS:C1426922, + HGNC:20407, + HGNC_symbol:CALR3 ; biolink:category biolink:Gene . OMIM:611415 a owl:Class ; @@ -291799,14 +303451,15 @@ OMIM:611415 a owl:Class ; PMID:26633632, PMID:27760120, PMID:7584026 ; - oboInOwl:hasDbXref UMLS:C1427199 ; oboInOwl:hasExactSynonym "POLD3", "kiaa0039", "p66", "polymerase (dna-directed), delta 3, accessory subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10714 ; - skos:exactMatch HGNC_symbol:POLD3 ; + skos:exactMatch UMLS:C1427199, + HGNC:20932, + HGNC_symbol:POLD3 ; biolink:category biolink:Gene . OMIM:611416 a owl:Class ; @@ -291817,53 +303470,57 @@ OMIM:611416 a owl:Class ; PMID:18355772, PMID:23001122, PMID:23001124 ; - oboInOwl:hasDbXref UMLS:C1420847 ; oboInOwl:hasExactSynonym "TOX3", "cagf9", "tox high mobility group box family member 3", "trinucleotide repeat-containing 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27324 ; - skos:exactMatch HGNC_symbol:TOX3 ; + skos:exactMatch UMLS:C1420847, + HGNC:11972, + HGNC_symbol:TOX3 ; biolink:category biolink:Gene . OMIM:611417 a owl:Class ; rdfs:label "SGSM1" ; IAO:0000142 PMID:11853319, PMID:17509819 ; - oboInOwl:hasDbXref UMLS:C1428855 ; oboInOwl:hasExactSynonym "SGSM1", "kiaa1941", "small g protein signaling modulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129049 ; - skos:exactMatch HGNC_symbol:SGSM1 ; + skos:exactMatch UMLS:C1428855, + HGNC:29410, + HGNC_symbol:SGSM1 ; biolink:category biolink:Gene . OMIM:611418 a owl:Class ; rdfs:label "SGSM2" ; IAO:0000142 PMID:17509819, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1428780 ; oboInOwl:hasExactSynonym "SGSM2", "kiaa0397", "small g protein signaling modulator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9905 ; - skos:exactMatch HGNC_symbol:SGSM2 ; + skos:exactMatch UMLS:C1428780, + HGNC:29026, + HGNC_symbol:SGSM2 ; biolink:category biolink:Gene . OMIM:611419 a owl:Class ; rdfs:label "SMIM29" ; IAO:0000142 PMID:10036196 ; - oboInOwl:hasDbXref UMLS:C1413015 ; oboInOwl:hasExactSynonym "SMIM29", "chromosome 6 open reading frame 1", "lbh", "small integral membrane protein 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221491 ; - skos:exactMatch HGNC_symbol:SMIM29 ; + skos:exactMatch UMLS:C1413015, + HGNC:1340, + HGNC_symbol:SMIM29 ; biolink:category biolink:Gene . OMIM:611420 a owl:Class ; @@ -291874,7 +303531,6 @@ OMIM:611420 a owl:Class ; PMID:15585571, PMID:17108141, PMID:22447717 ; - oboInOwl:hasDbXref UMLS:C1424515 ; oboInOwl:hasExactSynonym "CIZ1", "cdkn1a-interacting zinc finger protein 1", "cip1-interacting zinc finger protein", @@ -291883,7 +303539,9 @@ OMIM:611420 a owl:Class ; "zinc finger protein 356" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25792 ; - skos:exactMatch HGNC_symbol:CIZ1 ; + skos:exactMatch UMLS:C1424515, + HGNC:16744, + HGNC_symbol:CIZ1 ; biolink:category biolink:Gene . OMIM:611421 a owl:Class ; @@ -291901,14 +303559,15 @@ OMIM:611421 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:136140 ; - oboInOwl:hasDbXref UMLS:C1969628 ; oboInOwl:hasExactSynonym "SRCAP", "kiaa0309", "snf2-related cbp activator protein", "swr1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10847 ; - skos:exactMatch HGNC_symbol:SRCAP ; + skos:exactMatch UMLS:C1969628, + HGNC:16974, + HGNC_symbol:SRCAP ; biolink:category biolink:Gene . OMIM:611422 a owl:Class ; @@ -291917,13 +303576,14 @@ OMIM:611422 a owl:Class ; PMID:16407260, PMID:17639080, PMID:17639081 ; - oboInOwl:hasDbXref UMLS:C1826262 ; oboInOwl:hasExactSynonym "MND1", "meiotic nuclear divisions 1", "meiotic nuclear divisions 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84057 ; - skos:exactMatch HGNC_symbol:MND1 ; + skos:exactMatch UMLS:C1826262, + HGNC:24839, + HGNC_symbol:MND1 ; biolink:category biolink:Gene . OMIM:611423 a owl:Class ; @@ -291937,46 +303597,49 @@ OMIM:611423 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:614673 ; - oboInOwl:hasDbXref UMLS:C1824718 ; oboInOwl:hasExactSynonym "CEP135", "centrosomal protein, 135-kd", "kiaa0635" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9662 ; - skos:exactMatch HGNC_symbol:CEP135 ; + skos:exactMatch UMLS:C1824718, + HGNC:29086, + HGNC_symbol:CEP135 ; biolink:category biolink:Gene . OMIM:611424 a owl:Class ; rdfs:label "ZMYND19" ; IAO:0000142 PMID:12208518, PMID:16039987 ; - oboInOwl:hasDbXref UMLS:C1427361 ; oboInOwl:hasExactSynonym "ZMYND19", "mchr1-interacting zinc finger protein", "zinc finger mynd domain-containing protein 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116225 ; - skos:exactMatch HGNC_symbol:ZMYND19 ; + skos:exactMatch UMLS:C1427361, + HGNC:21146, + HGNC_symbol:ZMYND19 ; biolink:category biolink:Gene . OMIM:611425 a owl:Class ; rdfs:label "CNTROB" ; IAO:0000142 PMID:16275750 ; - oboInOwl:hasDbXref UMLS:C1824770 ; oboInOwl:hasExactSynonym "CNTROB", "centrobin, centriole duplication and spindle assembly protein", "centrosomal brca2-interacting protein", "lyst-interacting protein lip8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116840 ; - skos:exactMatch HGNC_symbol:CNTROB ; + skos:exactMatch UMLS:C1824770, + HGNC:29616, + HGNC_symbol:CNTROB ; biolink:category biolink:Gene . OMIM:611426 a owl:Class ; rdfs:label "tented eyebrows" ; IAO:0000142 PMID:9270529 ; - oboInOwl:hasDbXref UMLS:C1969624 ; - oboInOwl:hasExactSynonym "tented eyebrows" . + oboInOwl:hasExactSynonym "tented eyebrows" ; + skos:exactMatch UMLS:C1969624 . OMIM:611427 a owl:Class ; rdfs:label "MTHFD1L" ; @@ -291984,13 +303647,14 @@ OMIM:611427 a owl:Class ; PMID:15013446, PMID:15611115, PMID:23267094 ; - oboInOwl:hasDbXref UMLS:C1538020 ; oboInOwl:hasExactSynonym "MTHFD1L", "methylenetetrahydrofolate dehydrogenase 1-like, nadp(+)-dependent", "mitochondrial c1-tetrahydrofolate synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25902 ; - skos:exactMatch HGNC_symbol:MTHFD1L ; + skos:exactMatch UMLS:C1538020, + HGNC:21055, + HGNC_symbol:MTHFD1L ; biolink:category biolink:Gene . OMIM:611428 a owl:Class ; @@ -292003,28 +303667,30 @@ OMIM:611428 a owl:Class ; PMID:8434992 ; RO:0002525 CHR:9606chr21q22.11 ; RO:0003303 OMIM:251230 ; - oboInOwl:hasDbXref UMLS:C1414132 ; oboInOwl:hasExactSynonym "DONSON", "b17", "chromosome 21 open reading frame 60", "downstream neighbor of son" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29980 ; - skos:exactMatch HGNC_symbol:DONSON ; + skos:exactMatch UMLS:C1414132, + HGNC:2993, + HGNC_symbol:DONSON ; biolink:category biolink:Gene . OMIM:611429 a owl:Class ; rdfs:label "APRG1" ; IAO:0000142 PMID:12543795, PMID:16187228 ; - oboInOwl:hasDbXref UMLS:C1824131 ; oboInOwl:hasExactSynonym "APRG1", "ap20 region protein 1", "aprg1 tumor suppressor candidate", "chromosome 3 open reading frame 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339883 ; - skos:exactMatch HGNC_symbol:APRG1 ; + skos:exactMatch UMLS:C1824131, + HGNC:24082, + HGNC_symbol:APRG1 ; biolink:category biolink:Gene . OMIM:611430 a owl:Class ; @@ -292033,14 +303699,15 @@ OMIM:611430 a owl:Class ; PMID:30929735 ; RO:0002525 CHR:9606chr3p22.2 ; RO:0003303 OMIM:618429 ; - oboInOwl:hasDbXref UMLS:C1540116 ; oboInOwl:hasExactSynonym "TTC21A", "intraflagellar transport 139a", "stress-inducible protein 2", "tetratricopeptide repeat domain-containing protein 21a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199223 ; - skos:exactMatch HGNC_symbol:TTC21A ; + skos:exactMatch UMLS:C1540116, + HGNC:30761, + HGNC_symbol:TTC21A ; biolink:category biolink:Gene . OMIM:611432 a owl:Class ; @@ -292051,25 +303718,27 @@ OMIM:611432 a owl:Class ; PMID:2338345 ; RO:0002525 CHR:9606chr9p24.3 ; RO:0003303 OMIM:243700 ; - oboInOwl:hasDbXref UMLS:C1426079 ; oboInOwl:hasExactSynonym "DOCK8", "dedicator of cytokinesis 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81704 ; - skos:exactMatch HGNC_symbol:DOCK8 ; + skos:exactMatch UMLS:C1426079, + HGNC:19191, + HGNC_symbol:DOCK8 ; biolink:category biolink:Gene . OMIM:611433 a owl:Class ; rdfs:label "STYK1" ; IAO:0000142 PMID:15150103, PMID:17298854 ; - oboInOwl:hasDbXref UMLS:C1539889 ; oboInOwl:hasExactSynonym "STYK1", "novel oncogene with kinase domain", "serine/threonine/tyrosine kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55359 ; - skos:exactMatch HGNC_symbol:STYK1 ; + skos:exactMatch UMLS:C1539889, + HGNC:18889, + HGNC_symbol:STYK1 ; biolink:category biolink:Gene . OMIM:611434 a owl:Class ; @@ -292078,13 +303747,14 @@ OMIM:611434 a owl:Class ; PMID:10744659, PMID:11463797, PMID:15199160 ; - oboInOwl:hasDbXref UMLS:C1969622 ; oboInOwl:hasExactSynonym "CLNK", "cytokine-dependent hematopoietic cell linker", "mast cell immunoreceptor signal transducer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116449 ; - skos:exactMatch HGNC_symbol:CLNK ; + skos:exactMatch UMLS:C1969622, + HGNC:17438, + HGNC_symbol:CLNK ; biolink:category biolink:Gene . OMIM:611435 a owl:Class ; @@ -292093,24 +303763,26 @@ OMIM:611435 a owl:Class ; PMID:10733577, PMID:16436051, PMID:20139980 ; - oboInOwl:hasDbXref UMLS:C1539309 ; oboInOwl:hasExactSynonym "DOK3", "docking protein 3", "dok-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79930 ; - skos:exactMatch HGNC_symbol:DOK3 ; + skos:exactMatch UMLS:C1539309, + HGNC:24583, + HGNC_symbol:DOK3 ; biolink:category biolink:Gene . OMIM:611436 a owl:Class ; rdfs:label "CA13" ; IAO:0000142 PMID:14600151 ; - oboInOwl:hasDbXref UMLS:C1538426 ; oboInOwl:hasExactSynonym "CA13", "carbonic anhydrase 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:377677 ; - skos:exactMatch HGNC_symbol:CA13 ; + skos:exactMatch UMLS:C1538426, + HGNC:14914, + HGNC_symbol:CA13 ; biolink:category biolink:Gene . OMIM:611437 a owl:Class ; @@ -292119,7 +303791,6 @@ OMIM:611437 a owl:Class ; PMID:11959862, PMID:12479873, PMID:19228121 ; - oboInOwl:hasDbXref UMLS:C1425862 ; oboInOwl:hasExactSynonym "DUSP19", "dual-specificity phosphatase 19", "dusp17", @@ -292127,30 +303798,34 @@ OMIM:611437 a owl:Class ; "sapk pathway-regulating phosphatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142679 ; - skos:exactMatch HGNC_symbol:DUSP19 ; + skos:exactMatch UMLS:C1425862, + HGNC:18894, + HGNC_symbol:DUSP19 ; biolink:category biolink:Gene . OMIM:611438 a owl:Class ; rdfs:label "TXLNB" ; IAO:0000142 PMID:15184072 ; - oboInOwl:hasDbXref UMLS:C1823558 ; oboInOwl:hasExactSynonym "TXLNB", "taxilin, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:167838 ; - skos:exactMatch HGNC_symbol:TXLNB ; + skos:exactMatch UMLS:C1823558, + HGNC:21617, + HGNC_symbol:TXLNB ; biolink:category biolink:Gene . OMIM:611439 a owl:Class ; rdfs:label "ZBTB22" ; IAO:0000142 PMID:9545376 ; - oboInOwl:hasDbXref UMLS:C1823902 ; oboInOwl:hasExactSynonym "ZBTB22", "bing1", "zinc finger- and btb domain-containing protein 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9278 ; - skos:exactMatch HGNC_symbol:ZBTB22 ; + skos:exactMatch UMLS:C1823902, + HGNC:13085, + HGNC_symbol:ZBTB22 ; biolink:category biolink:Gene . OMIM:611440 a owl:Class ; @@ -292158,59 +303833,64 @@ OMIM:611440 a owl:Class ; IAO:0000142 PMID:11859131, PMID:24754225, PMID:9545376 ; - oboInOwl:hasDbXref UMLS:C1823823 ; oboInOwl:hasExactSynonym "WDR46", "bing4", "wd repeat-containing protein 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9277 ; - skos:exactMatch HGNC_symbol:WDR46 ; + skos:exactMatch UMLS:C1823823, + HGNC:13923, + HGNC_symbol:WDR46 ; biolink:category biolink:Gene . OMIM:611441 a owl:Class ; rdfs:label "DUX1" ; IAO:0000142 PMID:11245978, PMID:9736770 ; - oboInOwl:hasDbXref UMLS:C1414194 ; oboInOwl:hasExactSynonym "DUX1", "double homeobox protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26584 ; - skos:exactMatch HGNC_symbol:DUX1 ; + skos:exactMatch UMLS:C1414194, + HGNC:3079, + HGNC_symbol:DUX1 ; biolink:category biolink:Gene . OMIM:611442 a owl:Class ; rdfs:label "DUX2" ; IAO:0000142 PMID:11245978, PMID:9736770 ; - oboInOwl:hasDbXref UMLS:C1414195 ; oboInOwl:hasExactSynonym "DUX2", "double homeobox protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26583 ; - skos:exactMatch HGNC_symbol:DUX4L8 ; + skos:exactMatch UMLS:C1414195, + HGNC:38670, + HGNC_symbol:DUX4L8 ; biolink:category biolink:Gene . OMIM:611443 a owl:Class ; rdfs:label "DUX3" ; IAO:0000142 PMID:11245978 ; - oboInOwl:hasDbXref UMLS:C1414196 ; oboInOwl:hasExactSynonym "DUX3", "double homeobox protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26582 ; - skos:exactMatch HGNC_symbol:DUX3 ; + skos:exactMatch UMLS:C1414196, + HGNC:3081, + HGNC_symbol:DUX3 ; biolink:category biolink:Gene . OMIM:611444 a owl:Class ; rdfs:label "DUX5" ; IAO:0000142 PMID:11245978 ; - oboInOwl:hasDbXref UMLS:C1414198 ; oboInOwl:hasExactSynonym "DUX5", "double homeobox protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26581 ; - skos:exactMatch HGNC_symbol:DUX5 ; + skos:exactMatch UMLS:C1414198, + HGNC:3083, + HGNC_symbol:DUX5 ; biolink:category biolink:Gene . OMIM:611445 a owl:Class ; @@ -292220,13 +303900,14 @@ OMIM:611445 a owl:Class ; PMID:12646135, PMID:17880892, PMID:22393045 ; - oboInOwl:hasDbXref UMLS:C1428792 ; oboInOwl:hasExactSynonym "DNM3", "dynamin 3", "kiaa0820" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26052 ; - skos:exactMatch HGNC_symbol:DNM3 ; + skos:exactMatch UMLS:C1428792, + HGNC:29125, + HGNC_symbol:DNM3 ; biolink:category biolink:Gene . OMIM:611446 a owl:Class ; @@ -292234,13 +303915,14 @@ OMIM:611446 a owl:Class ; IAO:0000142 PMID:12408986, PMID:12591617, PMID:19228121 ; - oboInOwl:hasDbXref UMLS:C1425546 ; oboInOwl:hasExactSynonym "DUSP18", "dual-specificity phosphatase 18", "lmwdsp20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150290 ; - skos:exactMatch HGNC_symbol:DUSP18 ; + skos:exactMatch UMLS:C1425546, + HGNC:18484, + HGNC_symbol:DUSP18 ; biolink:category biolink:Gene . OMIM:611447 a owl:Class ; @@ -292248,7 +303930,6 @@ OMIM:611447 a owl:Class ; IAO:0000142 PMID:10100484, PMID:16479255, PMID:9780336 ; - oboInOwl:hasDbXref UMLS:C1823884 ; oboInOwl:hasExactSynonym "YBX2", "contrin", "csda3", @@ -292257,7 +303938,9 @@ OMIM:611447 a owl:Class ; "y box-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51087 ; - skos:exactMatch HGNC_symbol:YBX2 ; + skos:exactMatch UMLS:C1823884, + HGNC:17948, + HGNC_symbol:YBX2 ; biolink:category biolink:Gene . OMIM:611448 a owl:Class ; @@ -292269,7 +303952,6 @@ OMIM:611448 a owl:Class ; PMID:8724849 ; RO:0002525 CHR:9606chr10q11.21 ; RO:0003303 OMIM:107600 ; - oboInOwl:hasDbXref UMLS:C1428109 ; oboInOwl:hasExactSynonym "BMS1", "bms1 ribosome biogenesis factor", "bms1, ribosome assembly protein, s. cerevisiae, homolog of", @@ -292278,7 +303960,9 @@ OMIM:611448 a owl:Class ; "ribosome biogenesis protein bms1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9790 ; - skos:exactMatch HGNC_symbol:BMS1 ; + skos:exactMatch UMLS:C1428109, + HGNC:23505, + HGNC_symbol:BMS1 ; biolink:category biolink:Gene . OMIM:611449 a owl:Class ; @@ -292286,27 +303970,29 @@ OMIM:611449 a owl:Class ; IAO:0000142 PMID:10944119, PMID:11214970, PMID:16449645 ; - oboInOwl:hasDbXref UMLS:C1425083 ; oboInOwl:hasExactSynonym "XPO4", "exp4", "exportin 4", "kiaa1721" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64328 ; - skos:exactMatch HGNC_symbol:XPO4 ; + skos:exactMatch UMLS:C1425083, + HGNC:17796, + HGNC_symbol:XPO4 ; biolink:category biolink:Gene . OMIM:611450 a owl:Class ; rdfs:label "PXK" ; IAO:0000142 PMID:16135750, PMID:16142408 ; - oboInOwl:hasDbXref UMLS:C1428035 ; oboInOwl:hasExactSynonym "PXK", "modulator of na,k-atpase", "pxk domain-containing serine/threonine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54899 ; - skos:exactMatch HGNC_symbol:PXK ; + skos:exactMatch UMLS:C1428035, + HGNC:23326, + HGNC_symbol:PXK ; biolink:category biolink:Gene . OMIM:611452 a owl:Class ; @@ -292316,14 +304002,15 @@ OMIM:611452 a owl:Class ; OMIM:611453 a owl:Class ; rdfs:label "DBNDD2" ; IAO:0000142 PMID:16305340 ; - oboInOwl:hasDbXref UMLS:C1824888 ; oboInOwl:hasExactSynonym "DBNDD2", "dysbindin domain-containing 2", "hsmnp1", "scf apoptosis response protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55861 ; - skos:exactMatch HGNC_symbol:DBNDD2 ; + skos:exactMatch UMLS:C1824888, + HGNC:15881, + HGNC_symbol:DBNDD2 ; biolink:category biolink:Gene . OMIM:611454 a owl:Class ; @@ -292333,25 +304020,27 @@ OMIM:611454 a owl:Class ; OMIM:611455 a owl:Class ; rdfs:label "KNCN" ; IAO:0000142 PMID:15855039 ; - oboInOwl:hasDbXref UMLS:C1969618 ; oboInOwl:hasExactSynonym "KNCN", "kino", "kinocilin", "l5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148930 ; - skos:exactMatch HGNC_symbol:KNCN ; + skos:exactMatch UMLS:C1969618, + HGNC:26488, + HGNC_symbol:KNCN ; biolink:category biolink:Gene . OMIM:611457 a owl:Class ; rdfs:label "FOXO6" ; IAO:0000142 PMID:12857750 ; - oboInOwl:hasDbXref UMLS:C1969616 ; oboInOwl:hasExactSynonym "FOXO6", "forkhead box o6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100132074 ; - skos:exactMatch HGNC_symbol:FOXO6 ; + skos:exactMatch UMLS:C1969616, + HGNC:24814, + HGNC_symbol:FOXO6 ; biolink:category biolink:Gene . OMIM:611458 a owl:Class ; @@ -292403,7 +304092,6 @@ OMIM:611458 a owl:Class ; PMID:9883849 ; RO:0002525 CHR:9606chr3p22.3 ; RO:0003303 OMIM:253010 ; - oboInOwl:hasDbXref UMLS:C1415090 ; oboInOwl:hasExactSynonym "GLB1", "beta-galactosidase-1", "elastin receptor 1", @@ -292412,7 +304100,9 @@ OMIM:611458 a owl:Class ; "s-gal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2720 ; - skos:exactMatch HGNC_symbol:GLB1 ; + skos:exactMatch UMLS:C1415090, + HGNC:4298, + HGNC_symbol:GLB1 ; biolink:category biolink:Gene . OMIM:611459 a owl:Class ; @@ -292422,18 +304112,18 @@ OMIM:611459 a owl:Class ; PMID:30082715 ; RO:0002525 CHR:9606chr4q31.22 ; RO:0003303 OMIM:618363 ; - oboInOwl:hasDbXref UMLS:C1822740 ; oboInOwl:hasExactSynonym "SLC10A7", "solute carrier family 10 (sodium/bile acid cotransporter family), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84068 ; - skos:exactMatch HGNC_symbol:SLC10A7 ; + skos:exactMatch UMLS:C1822740, + HGNC:23088, + HGNC_symbol:SLC10A7 ; biolink:category biolink:Gene . OMIM:611460 a owl:Class ; rdfs:label "TPRG1L" ; IAO:0000142 PMID:17869247 ; - oboInOwl:hasDbXref UMLS:C1825152 ; oboInOwl:hasExactSynonym "TPRG1L", "family with sequence similarity 79, member a", "mover", @@ -292441,7 +304131,9 @@ OMIM:611460 a owl:Class ; "tumor protein p63-regulated protein 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127262 ; - skos:exactMatch HGNC_symbol:TPRG1L ; + skos:exactMatch UMLS:C1825152, + HGNC:27007, + HGNC_symbol:TPRG1L ; biolink:category biolink:Gene . OMIM:611461 a owl:Class ; @@ -292449,7 +304141,6 @@ OMIM:611461 a owl:Class ; IAO:0000142 PMID:16377569, PMID:17253959, PMID:32675368 ; - oboInOwl:hasDbXref UMLS:C1427912 ; oboInOwl:hasExactSynonym "SLC22A17", "brain-type organic ion transporter", "neutrophil gelatinase-associated lipocalcin receptor", @@ -292458,13 +304149,14 @@ OMIM:611461 a owl:Class ; "solute carrier family 22 (organic cation transporter), member 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51310 ; - skos:exactMatch HGNC_symbol:SLC22A17 ; + skos:exactMatch UMLS:C1427912, + HGNC:23095, + HGNC_symbol:SLC22A17 ; biolink:category biolink:Gene . OMIM:611462 a owl:Class ; rdfs:label "PIK3R6" ; IAO:0000142 PMID:16476736 ; - oboInOwl:hasDbXref UMLS:C1428643 ; oboInOwl:hasExactSynonym "PIK3R6", "chromosome 17 open reading frame 38", "p87-pikap", @@ -292472,7 +304164,9 @@ OMIM:611462 a owl:Class ; "phosphoinositide 3-kinase-gamma adaptor protein, 87-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146850 ; - skos:exactMatch HGNC_symbol:PIK3R6 ; + skos:exactMatch UMLS:C1428643, + HGNC:27101, + HGNC_symbol:PIK3R6 ; biolink:category biolink:Gene . OMIM:611463 a owl:Class ; @@ -292480,28 +304174,30 @@ OMIM:611463 a owl:Class ; IAO:0000142 PMID:12803540, PMID:15283699, PMID:17558023 ; - oboInOwl:hasDbXref UMLS:C1427956 ; oboInOwl:hasExactSynonym "SAT2", "spermidine/spermine n(1)-acetyltransferase 2", "ssat2", "thialysine n-epsilon-acetyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112483 ; - skos:exactMatch HGNC_symbol:SAT2 ; + skos:exactMatch UMLS:C1427956, + HGNC:23160, + HGNC_symbol:SAT2 ; biolink:category biolink:Gene . OMIM:611464 a owl:Class ; rdfs:label "MON1A" ; IAO:0000142 PMID:17632513, PMID:20305638 ; - oboInOwl:hasDbXref UMLS:C1537933 ; oboInOwl:hasExactSynonym "MON1A", "mon1 homolog a, secretory trafficking-associated", "mon1, s. cerevisiae, homolog of, a", "sand1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84315 ; - skos:exactMatch HGNC_symbol:MON1A ; + skos:exactMatch UMLS:C1537933, + HGNC:28207, + HGNC_symbol:MON1A ; biolink:category biolink:Gene . OMIM:611466 a owl:Class ; @@ -292514,14 +304210,15 @@ OMIM:611466 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:618107 ; - oboInOwl:hasDbXref UMLS:C1428775 ; oboInOwl:hasExactSynonym "PLEKHM1", "adaptor protein, 162-kd", "kiaa0356", "pleckstrin homology domain-containing protein, family m, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9842 ; - skos:exactMatch HGNC_symbol:PLEKHM1 ; + skos:exactMatch UMLS:C1428775, + HGNC:29017, + HGNC_symbol:PLEKHM1 ; biolink:category biolink:Gene . OMIM:611467 a owl:Class ; @@ -292530,26 +304227,28 @@ OMIM:611467 a owl:Class ; PMID:16689661, PMID:17266443, PMID:22461501 ; - oboInOwl:hasDbXref UMLS:C1426511 ; oboInOwl:hasExactSynonym "guanylate-binding protein 5, mouse, homolog of", "guanylate-binding protein 5: gbp5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115362 ; - skos:exactMatch HGNC_symbol:GBP5 ; + skos:exactMatch UMLS:C1426511, + HGNC:19895, + HGNC_symbol:GBP5 ; biolink:category biolink:Gene . OMIM:611468 a owl:Class ; rdfs:label "BDNFAS" ; IAO:0000142 PMID:15666411, PMID:17629449 ; - oboInOwl:hasDbXref UMLS:C1538322 ; oboInOwl:hasExactSynonym "BDNFAS", "anti-bdnf", "bdnf antisense RNA", "brain-derived neurotrophic factor, opposite strand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:497258 ; - skos:exactMatch HGNC_symbol:BDNF-AS ; + skos:exactMatch UMLS:C1538322, + HGNC:20608, + HGNC_symbol:BDNF-AS ; biolink:category biolink:Gene . OMIM:611470 a owl:Class ; @@ -292557,13 +304256,14 @@ OMIM:611470 a owl:Class ; IAO:0000142 PMID:12107413, PMID:14551530, PMID:17010935 ; - oboInOwl:hasDbXref UMLS:C1427244 ; oboInOwl:hasExactSynonym "GLULD1", "glutamate-ammonia ligase (glutamine synthetase) domain-containing 1", "lengsin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51557 ; - skos:exactMatch HGNC_symbol:LGSN ; + skos:exactMatch UMLS:C1427244, + HGNC:21016, + HGNC_symbol:LGSN ; biolink:category biolink:Gene . OMIM:611471 a owl:Class ; @@ -292571,14 +304271,15 @@ OMIM:611471 a owl:Class ; IAO:0000142 PMID:10506173, PMID:12010880, PMID:9820827 ; - oboInOwl:hasDbXref UMLS:C1538902 ; oboInOwl:hasExactSynonym "ACP6", "acid phosphatase 6, lysophosphatide", "acid phosphatase-like 1", "lysophosphatidic acid-specific phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51205 ; - skos:exactMatch HGNC_symbol:ACP6 ; + skos:exactMatch UMLS:C1538902, + HGNC:29609, + HGNC_symbol:ACP6 ; biolink:category biolink:Gene . OMIM:611472 a owl:Class ; @@ -292590,31 +304291,32 @@ OMIM:611472 a owl:Class ; PMID:23708187 ; RO:0002525 CHR:9606chr2q23.1 ; RO:0003303 OMIM:156200 ; - oboInOwl:hasDbXref UMLS:C1426942 ; oboInOwl:hasExactSynonym "MBD5", "kiaa1461", "methyl-cpg-binding domain protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55777 ; - skos:exactMatch HGNC_symbol:MBD5 ; + skos:exactMatch UMLS:C1426942, + HGNC:20444, + HGNC_symbol:MBD5 ; biolink:category biolink:Gene . OMIM:611473 a owl:Class ; rdfs:label "ESRG" ; IAO:0000142 PMID:17803967 ; - oboInOwl:hasDbXref UMLS:C1969111 ; oboInOwl:hasExactSynonym "ESRG", "embryonic stem cell-related protein", "hesrg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:790952 ; - skos:exactMatch HGNC_symbol:ESRG ; + skos:exactMatch UMLS:C1969111, + HGNC:39079, + HGNC_symbol:ESRG ; biolink:category biolink:Gene . OMIM:611474 a owl:Class ; rdfs:label "PLAAT5" ; IAO:0000142 PMID:17158102 ; - oboInOwl:hasDbXref UMLS:C1825524 ; oboInOwl:hasExactSynonym "PLAAT5", "h-rev107-like protein 5", "hras-like suppressor family, member 5", @@ -292622,56 +304324,62 @@ OMIM:611474 a owl:Class ; "phospholipase a and acyltransferase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117245 ; - skos:exactMatch HGNC_symbol:PLAAT5 ; + skos:exactMatch UMLS:C1825524, + HGNC:24978, + HGNC_symbol:PLAAT5 ; biolink:category biolink:Gene . OMIM:611475 a owl:Class ; rdfs:label "RPAP1" ; IAO:0000142 PMID:10718198, PMID:17643375 ; - oboInOwl:hasDbXref UMLS:C1428389 ; oboInOwl:hasExactSynonym "RNA polymerase ii-associated protein 1", "RPAP1", "kiaa1403" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26015 ; - skos:exactMatch HGNC_symbol:RPAP1 ; + skos:exactMatch UMLS:C1428389, + HGNC:24567, + HGNC_symbol:RPAP1 ; biolink:category biolink:Gene . OMIM:611476 a owl:Class ; rdfs:label "RPAP2" ; IAO:0000142 PMID:17643375 ; - oboInOwl:hasDbXref UMLS:C1823702 ; oboInOwl:hasExactSynonym "RNA polymerase ii-associated protein 2", "RPAP2", "chromosome 1 open reading frame 82" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79871 ; - skos:exactMatch HGNC_symbol:RPAP2 ; + skos:exactMatch UMLS:C1823702, + HGNC:25791, + HGNC_symbol:RPAP2 ; biolink:category biolink:Gene . OMIM:611477 a owl:Class ; rdfs:label "RPAP3" ; IAO:0000142 PMID:17643375 ; - oboInOwl:hasDbXref UMLS:C1969110 ; oboInOwl:hasExactSynonym "RNA polymerase ii-associated protein 3", "RPAP3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79657 ; - skos:exactMatch HGNC_symbol:RPAP3 ; + skos:exactMatch UMLS:C1969110, + HGNC:26151, + HGNC_symbol:RPAP3 ; biolink:category biolink:Gene . OMIM:611478 a owl:Class ; rdfs:label "MEPCE" ; IAO:0000142 PMID:12358911, PMID:17643375 ; - oboInOwl:hasDbXref UMLS:C1826417 ; oboInOwl:hasExactSynonym "MEPCE", "bicoid-interacting 3, drosophila, homolog of", "methylphosphate capping enzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56257 ; - skos:exactMatch HGNC_symbol:MEPCE ; + skos:exactMatch UMLS:C1826417, + HGNC:20247, + HGNC_symbol:MEPCE ; biolink:category biolink:Gene . OMIM:611479 a owl:Class ; @@ -292679,38 +304387,41 @@ OMIM:611479 a owl:Class ; IAO:0000142 PMID:11058119, PMID:12588985, PMID:17643375 ; - oboInOwl:hasDbXref UMLS:C1424698 ; oboInOwl:hasExactSynonym "XAB1", "mbd2-interacting protein", "xpa-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11321 ; - skos:exactMatch HGNC_symbol:GPN1 ; + skos:exactMatch UMLS:C1424698, + HGNC:17030, + HGNC_symbol:GPN1 ; biolink:category biolink:Gene . OMIM:611480 a owl:Class ; rdfs:label "PIH1D1" ; IAO:0000142 PMID:15670595, PMID:17643375 ; - oboInOwl:hasDbXref UMLS:C1826454 ; oboInOwl:hasExactSynonym "PIH1D1", "nop17, s. cerevisiae, homolog of", "pih1 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55011 ; - skos:exactMatch HGNC_symbol:PIH1D1 ; + skos:exactMatch UMLS:C1826454, + HGNC:26075, + HGNC_symbol:PIH1D1 ; biolink:category biolink:Gene . OMIM:611481 a owl:Class ; rdfs:label "UFSP1" ; IAO:0000142 PMID:17182609 ; - oboInOwl:hasDbXref UMLS:C1969109 ; oboInOwl:hasExactSynonym "UFSP1", "ufm1-specific peptidase 1", "ufm1-specific protease 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402682 ; - skos:exactMatch HGNC_symbol:UFSP1 ; + skos:exactMatch UMLS:C1969109, + HGNC:33821, + HGNC_symbol:UFSP1 ; biolink:category biolink:Gene . OMIM:611482 a owl:Class ; @@ -292722,14 +304433,15 @@ OMIM:611482 a owl:Class ; PMID:28892125 ; RO:0002525 CHR:9606chr4q35.1 ; RO:0003303 OMIM:617974 ; - oboInOwl:hasDbXref UMLS:C1824165 ; oboInOwl:hasExactSynonym "UFSP2", "chromosome 4 open reading frame 20", "ufm1-specific peptidase 2", "ufm1-specific protease 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55325 ; - skos:exactMatch HGNC_symbol:UFSP2 ; + skos:exactMatch UMLS:C1824165, + HGNC:25640, + HGNC_symbol:UFSP2 ; biolink:category biolink:Gene . OMIM:611483 a owl:Class ; @@ -292740,28 +304452,30 @@ OMIM:611483 a owl:Class ; PMID:33164986 ; RO:0002525 CHR:9606chr5q31.3 ; RO:0003303 OMIM:619278 ; - oboInOwl:hasDbXref UMLS:C1823890 ; oboInOwl:hasExactSynonym "YIPF5", "smooth muscle cell-associated protein 5", "yip1 domain family, member 5", "yip1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81555 ; - skos:exactMatch HGNC_symbol:YIPF5 ; + skos:exactMatch UMLS:C1823890, + HGNC:24877, + HGNC_symbol:YIPF5 ; biolink:category biolink:Gene . OMIM:611484 a owl:Class ; rdfs:label "YIF1A" ; IAO:0000142 PMID:10970842, PMID:15990086 ; - oboInOwl:hasDbXref UMLS:C1823885 ; oboInOwl:hasExactSynonym "YIF1A", "yif1", "yip1-interacting factor homolog a, membrane-trafficking protein", "yip1-interacting factor, s. cerevisiae, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10897 ; - skos:exactMatch HGNC_symbol:YIF1A ; + skos:exactMatch UMLS:C1823885, + HGNC:16688, + HGNC_symbol:YIF1A ; biolink:category biolink:Gene . OMIM:611485 a owl:Class ; @@ -292770,13 +304484,14 @@ OMIM:611485 a owl:Class ; PMID:11162645, PMID:15548388, PMID:16112640 ; - oboInOwl:hasDbXref UMLS:C1425828 ; oboInOwl:hasExactSynonym "CYP4F12", "cytochrome p450, family 4, subfamily f, polypeptide 12", "cytochrome p450, subfamily ivf, polypeptide 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:66002 ; - skos:exactMatch HGNC_symbol:CYP4F12 ; + skos:exactMatch UMLS:C1425828, + HGNC:18857, + HGNC_symbol:CYP4F12 ; biolink:category biolink:Gene . OMIM:611486 a owl:Class ; @@ -292788,25 +304503,27 @@ OMIM:611486 a owl:Class ; PMID:26203179 ; RO:0002525 CHR:9606chr10q26.3 ; RO:0003303 OMIM:616950 ; - oboInOwl:hasDbXref UMLS:C1823157 ; oboInOwl:hasExactSynonym "SYCE1", "synaptonemal complex central element protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93426 ; - skos:exactMatch HGNC_symbol:SYCE1 ; + skos:exactMatch UMLS:C1823157, + HGNC:28852, + HGNC_symbol:SYCE1 ; biolink:category biolink:Gene . OMIM:611487 a owl:Class ; rdfs:label "SYCE2" ; IAO:0000142 PMID:15944401, PMID:17339376 ; - oboInOwl:hasDbXref UMLS:C1823158 ; oboInOwl:hasExactSynonym "SYCE2", "central element synaptonemal complex 1", "synaptonemal complex central element protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256126 ; - skos:exactMatch HGNC_symbol:SYCE2 ; + skos:exactMatch UMLS:C1823158, + HGNC:27411, + HGNC_symbol:SYCE2 ; biolink:category biolink:Gene . OMIM:611488 a owl:Class ; @@ -292816,24 +304533,25 @@ OMIM:611488 a owl:Class ; PMID:15829498 ; RO:0002525 CHR:9606chr9q32-q33 ; RO:0003303 OMIM:10 ; - oboInOwl:hasDbXref UMLS:C1969108 ; oboInOwl:hasExactSynonym "ARMD10", "macular degeneration, age-related, 10" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C1969108 ; biolink:category biolink:Disease . OMIM:611491 a owl:Class ; rdfs:label "RADIL" ; IAO:0000142 PMID:11347906, PMID:17704304 ; - oboInOwl:hasDbXref UMLS:C1969105 ; oboInOwl:hasExactSynonym "RADIL", "kiaa1849", "rap gtpase interactor", "ras association and dilute domains protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55698 ; - skos:exactMatch HGNC_symbol:RADIL ; + skos:exactMatch UMLS:C1969105, + HGNC:22226, + HGNC_symbol:RADIL ; biolink:category biolink:Gene . OMIM:611492 a owl:Class ; @@ -292863,7 +304581,6 @@ OMIM:611492 a owl:Class ; PMID:9525974 ; RO:0002525 CHR:9606chr8q21.2 ; RO:0003303 OMIM:259730 ; - oboInOwl:hasDbXref UMLS:C1413043 ; oboInOwl:hasExactSynonym "CA2", "ca 2", "carbonic anhydrase 2", @@ -292871,17 +304588,19 @@ OMIM:611492 a owl:Class ; "carbonic anhydrase c, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:760 ; - skos:exactMatch HGNC_symbol:CA2 ; + skos:exactMatch UMLS:C1413043, + HGNC:1373, + HGNC_symbol:CA2 ; biolink:category biolink:Gene . OMIM:611493 a owl:Class ; rdfs:label "atrial fibrillation, familial, 4" ; IAO:0000142 PMID:15368194, PMID:9070470 ; - oboInOwl:hasDbXref UMLS:C1862394 ; oboInOwl:hasExactSynonym "ATFB4", "atrial fibrillation, familial, 4" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C1862394 ; biolink:category biolink:Disease . OMIM:611495 a owl:Class ; @@ -292890,13 +304609,14 @@ OMIM:611495 a owl:Class ; PMID:18034255 ; RO:0002525 CHR:9606chr19p13.12 ; RO:0003303 OMIM:604777 ; - oboInOwl:hasDbXref UMLS:C1969094 ; oboInOwl:hasExactSynonym "CYP4F22", "cytochrome p450, family 4, subfamily f, polypeptide 22", "cytochrome p450, subfamily ivf, polypeptide 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126410 ; - skos:exactMatch HGNC_symbol:CYP4F22 ; + skos:exactMatch UMLS:C1969094, + HGNC:26820, + HGNC_symbol:CYP4F22 ; biolink:category biolink:Gene . OMIM:611496 a owl:Class ; @@ -292911,23 +304631,24 @@ OMIM:611496 a owl:Class ; PMID:9566909 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:617912 ; - oboInOwl:hasDbXref UMLS:C1423740 ; oboInOwl:hasExactSynonym "GATA5", "gata-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140628 ; - skos:exactMatch HGNC_symbol:GATA5 ; + skos:exactMatch UMLS:C1423740, + HGNC:15802, + HGNC_symbol:GATA5 ; biolink:category biolink:Gene . OMIM:611497 a owl:Class ; rdfs:label "osteopetrosis, autosomal recessive 6" ; IAO:0000142 PMID:14969387, PMID:17404618 ; - oboInOwl:hasDbXref UMLS:C1969093 ; oboInOwl:hasExactSynonym "OPTB6", "osteopetrosis, autosomal recessive 6", "osteopetrosis, autosomal recessive, intermediate form" ; rdfs:subClassOf OMIMPS:259700 ; + skos:exactMatch UMLS:C1969093 ; biolink:category biolink:Disease . OMIM:611499 a owl:Class ; @@ -293008,12 +304729,13 @@ OMIM:611499 a owl:Class ; PMID:9987917 ; RO:0002525 CHR:9606chr7q11.21 ; RO:0003303 OMIM:253220 ; - oboInOwl:hasDbXref UMLS:C1439345 ; oboInOwl:hasExactSynonym "GUSB", "beta-glucuronidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2990 ; - skos:exactMatch HGNC_symbol:GUSB ; + skos:exactMatch UMLS:C1439345, + HGNC:4696, + HGNC_symbol:GUSB ; biolink:category biolink:Gene . OMIM:611500 a owl:Class ; @@ -293023,14 +304745,15 @@ OMIM:611500 a owl:Class ; PMID:19196972, PMID:20223197, PMID:20223198 ; - oboInOwl:hasDbXref UMLS:C1537856 ; oboInOwl:hasExactSynonym "MIR219-1", "micro RNA 219-1", "mirn219-1", "mirna219-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407002 ; - skos:exactMatch HGNC_symbol:MIR219A1 ; + skos:exactMatch UMLS:C1537856, + HGNC:31597, + HGNC_symbol:MIR219A1 ; biolink:category biolink:Gene . OMIM:611501 a owl:Class ; @@ -293044,70 +304767,76 @@ OMIM:611501 a owl:Class ; PMID:22693284 ; RO:0002525 CHR:9606chr1p36.31-p36.23 ; RO:0003303 OMIM:614756 ; - oboInOwl:hasDbXref UMLS:C1425790 ; oboInOwl:hasExactSynonym "CAMTA1", "calmodulin-binding transcription activator 1", "kiaa0833" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23261 ; - skos:exactMatch HGNC_symbol:CAMTA1 ; + skos:exactMatch UMLS:C1425790, + HGNC:18806, + HGNC_symbol:CAMTA1 ; biolink:category biolink:Gene . OMIM:611502 a owl:Class ; rdfs:label "CENPK" ; IAO:0000142 PMID:10996314, PMID:16622420 ; - oboInOwl:hasDbXref UMLS:C1824701 ; oboInOwl:hasExactSynonym "CENPK", "centromeric protein k", "solt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64105 ; - skos:exactMatch HGNC_symbol:CENPK ; + skos:exactMatch UMLS:C1824701, + HGNC:29479, + HGNC_symbol:CENPK ; biolink:category biolink:Gene . OMIM:611503 a owl:Class ; rdfs:label "CENPL" ; IAO:0000142 PMID:16622420 ; - oboInOwl:hasDbXref UMLS:C1824702 ; oboInOwl:hasExactSynonym "CENPL", "centromeric protein 50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91687 ; - skos:exactMatch HGNC_symbol:CENPL ; + skos:exactMatch UMLS:C1824702, + HGNC:17879, + HGNC_symbol:CENPL ; biolink:category biolink:Gene . OMIM:611504 a owl:Class ; rdfs:label "CENPO" ; IAO:0000142 PMID:16622420 ; - oboInOwl:hasDbXref UMLS:C1824704 ; oboInOwl:hasExactSynonym "CENPO", "centromeric protein o" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79172 ; - skos:exactMatch HGNC_symbol:CENPO ; + skos:exactMatch UMLS:C1824704, + HGNC:28152, + HGNC_symbol:CENPO ; biolink:category biolink:Gene . OMIM:611505 a owl:Class ; rdfs:label "CENPP" ; IAO:0000142 PMID:16622420 ; - oboInOwl:hasDbXref UMLS:C1824705 ; oboInOwl:hasExactSynonym "CENPP", "centromeric protein p" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401541 ; - skos:exactMatch HGNC_symbol:CENPP ; + skos:exactMatch UMLS:C1824705, + HGNC:32933, + HGNC_symbol:CENPP ; biolink:category biolink:Gene . OMIM:611506 a owl:Class ; rdfs:label "CENPQ" ; IAO:0000142 PMID:16622420 ; - oboInOwl:hasDbXref UMLS:C1824706 ; oboInOwl:hasExactSynonym "CENPQ", "centromeric protein q" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55166 ; - skos:exactMatch HGNC_symbol:CENPQ ; + skos:exactMatch UMLS:C1824706, + HGNC:21347, + HGNC_symbol:CENPQ ; biolink:category biolink:Gene . OMIM:611507 a owl:Class ; @@ -293124,7 +304853,6 @@ OMIM:611507 a owl:Class ; PMID:29237418 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:604928 ; - oboInOwl:hasDbXref UMLS:C1969088 ; oboInOwl:hasExactSynonym "CISD2", "cdgsh iron sulfur domain protein 2", "endoplasmic reticulum intermembrane small protein", @@ -293133,7 +304861,9 @@ OMIM:611507 a owl:Class ; "zinc finger protein zcd2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:493856 ; - skos:exactMatch HGNC_symbol:CISD2 ; + skos:exactMatch UMLS:C1969088, + HGNC:24212, + HGNC_symbol:CISD2 ; biolink:category biolink:Gene . OMIM:611508 a owl:Class ; @@ -293141,24 +304871,26 @@ OMIM:611508 a owl:Class ; IAO:0000142 PMID:10048485, PMID:11925432, PMID:16678093 ; - oboInOwl:hasDbXref UMLS:C1425791 ; oboInOwl:hasExactSynonym "CAMTA2", "calmodulin-binding transcription activator 2", "kiaa0909" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23125 ; - skos:exactMatch HGNC_symbol:CAMTA2 ; + skos:exactMatch UMLS:C1425791, + HGNC:18807, + HGNC_symbol:CAMTA2 ; biolink:category biolink:Gene . OMIM:611509 a owl:Class ; rdfs:label "CENPN" ; IAO:0000142 PMID:16622419 ; - oboInOwl:hasDbXref UMLS:C1824703 ; oboInOwl:hasExactSynonym "CENPN", "centromeric protein n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55839 ; - skos:exactMatch HGNC_symbol:CENPN ; + skos:exactMatch UMLS:C1824703, + HGNC:30873, + HGNC_symbol:CENPN ; biolink:category biolink:Gene . OMIM:611510 a owl:Class ; @@ -293168,12 +304900,13 @@ OMIM:611510 a owl:Class ; PMID:29228025 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:618702 ; - oboInOwl:hasDbXref UMLS:C1824707 ; oboInOwl:hasExactSynonym "CENPT", "centromeric protein t" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80152 ; - skos:exactMatch HGNC_symbol:CENPT ; + skos:exactMatch UMLS:C1824707, + HGNC:25787, + HGNC_symbol:CENPT ; biolink:category biolink:Gene . OMIM:611511 a owl:Class ; @@ -293181,14 +304914,15 @@ OMIM:611511 a owl:Class ; IAO:0000142 PMID:15116101, PMID:16622419, PMID:16622420 ; - oboInOwl:hasDbXref UMLS:C1427498 ; oboInOwl:hasExactSynonym "MLF1IP", "cenp50", "centromeric protein u", "mlf1-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79682 ; - skos:exactMatch HGNC_symbol:CENPU ; + skos:exactMatch UMLS:C1427498, + HGNC:21348, + HGNC_symbol:CENPU ; biolink:category biolink:Gene . OMIM:611512 a owl:Class ; @@ -293198,7 +304932,6 @@ OMIM:611512 a owl:Class ; PMID:19194461, PMID:24009392, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1427145 ; oboInOwl:hasExactSynonym "KDM3A", "jmjc domain-containing histone demethylase 2a", "jumonji domain-containing protein 1a, formerly", @@ -293209,20 +304942,23 @@ OMIM:611512 a owl:Class ; "testis-specific gene a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55818 ; - skos:exactMatch HGNC_symbol:KDM3A ; + skos:exactMatch UMLS:C1427145, + HGNC:20815, + HGNC_symbol:KDM3A ; biolink:category biolink:Gene . OMIM:611513 a owl:Class ; rdfs:label "NEUROD6" ; IAO:0000142 PMID:12357074 ; - oboInOwl:hasDbXref UMLS:C1422203 ; oboInOwl:hasExactSynonym "NEUROD6", "atoh2", "math2", "neurogenic differentiation 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63974 ; - skos:exactMatch HGNC_symbol:NEUROD6 ; + skos:exactMatch UMLS:C1422203, + HGNC:13804, + HGNC_symbol:NEUROD6 ; biolink:category biolink:Gene . OMIM:611514 a owl:Class ; @@ -293235,7 +304971,6 @@ OMIM:611514 a owl:Class ; PMID:23918954 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:619648 ; - oboInOwl:hasDbXref UMLS:C1825410 ; oboInOwl:hasExactSynonym "WLS", "evenness interrupted, drosophila, homolog of", "g protein-coupled receptor 177", @@ -293243,30 +304978,34 @@ OMIM:611514 a owl:Class ; "wntless, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79971 ; - skos:exactMatch HGNC_symbol:WLS ; + skos:exactMatch UMLS:C1825410, + HGNC:30238, + HGNC_symbol:WLS ; biolink:category biolink:Gene . OMIM:611516 a owl:Class ; rdfs:label "NICN1" ; IAO:0000142 PMID:12392556 ; - oboInOwl:hasDbXref UMLS:C1425444 ; oboInOwl:hasExactSynonym "NICN1", "nicolin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84276 ; - skos:exactMatch HGNC_symbol:NICN1 ; + skos:exactMatch UMLS:C1425444, + HGNC:18317, + HGNC_symbol:NICN1 ; biolink:category biolink:Gene . OMIM:611517 a owl:Class ; rdfs:label "CYP4F11" ; IAO:0000142 PMID:10964514 ; - oboInOwl:hasDbXref UMLS:C1421912 ; oboInOwl:hasExactSynonym "CYP4F11", "cytochrome p450, family 4, subfamily f, polypeptide 11", "cytochrome p450, subfamily ivf, polypeptide 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57834 ; - skos:exactMatch HGNC_symbol:CYP4F11 ; + skos:exactMatch UMLS:C1421912, + HGNC:13265, + HGNC_symbol:CYP4F11 ; biolink:category biolink:Gene . OMIM:611518 a owl:Class ; @@ -293274,14 +305013,15 @@ OMIM:611518 a owl:Class ; IAO:0000142 PMID:12432077, PMID:15710388, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1428093 ; oboInOwl:hasExactSynonym "DOCK10", "dedicator of cytokinesis 10", "kiaa0694", "zizimin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55619 ; - skos:exactMatch HGNC_symbol:DOCK10 ; + skos:exactMatch UMLS:C1428093, + HGNC:23479, + HGNC_symbol:DOCK10 ; biolink:category biolink:Gene . OMIM:611519 a owl:Class ; @@ -293289,36 +305029,38 @@ OMIM:611519 a owl:Class ; IAO:0000142 PMID:12522211, PMID:15811854, PMID:17623671 ; - oboInOwl:hasDbXref UMLS:C1428254 ; oboInOwl:hasExactSynonym "POLDIP2", "pdip38", "polymerase delta-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26073 ; - skos:exactMatch HGNC_symbol:POLDIP2 ; + skos:exactMatch UMLS:C1428254, + HGNC:23781, + HGNC_symbol:POLDIP2 ; biolink:category biolink:Gene . OMIM:611520 a owl:Class ; rdfs:label "POLDIP3" ; IAO:0000142 PMID:12522211, PMID:15341740 ; - oboInOwl:hasDbXref UMLS:C1428255 ; oboInOwl:hasExactSynonym "POLDIP3", "pdip46", "polymerase delta-interacting protein 3", "s6k1 aly/ref-like target" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84271 ; - skos:exactMatch HGNC_symbol:POLDIP3 ; + skos:exactMatch UMLS:C1428255, + HGNC:23782, + HGNC_symbol:POLDIP3 ; biolink:category biolink:Gene . OMIM:611522 a owl:Class ; rdfs:label "intraocular pressure quantitative trait locus" ; IAO:0000142 PMID:17210855 ; - oboInOwl:hasDbXref UMLS:C1969085 ; oboInOwl:hasExactSynonym "IOPQTL", "glaucoma, susceptibility to", "intraocular pressure quantitative trait locus" ; + skos:exactMatch UMLS:C1969085 ; biolink:category biolink:Disease . OMIM:611524 a owl:Class ; @@ -293329,14 +305071,15 @@ OMIM:611524 a owl:Class ; PMID:7607232 ; RO:0002525 CHR:9606chr6q15 ; RO:0003303 OMIM:611523 ; - oboInOwl:hasDbXref UMLS:C1427551 ; oboInOwl:hasExactSynonym "RARS2", "arginyl-trna synthetase 2", "arginyl-trna synthetase, mitochondrial", "rarsl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57038 ; - skos:exactMatch HGNC_symbol:RARS2 ; + skos:exactMatch UMLS:C1427551, + HGNC:21406, + HGNC_symbol:RARS2 ; biolink:category biolink:Gene . OMIM:611525 a owl:Class ; @@ -293344,7 +305087,6 @@ OMIM:611525 a owl:Class ; IAO:0000142 PMID:10751307, PMID:16934752, PMID:17317665 ; - oboInOwl:hasDbXref UMLS:C1422411 ; oboInOwl:hasExactSynonym "DNA polymerase, delta 4, smallest subunit", "POLD4", "cdm1, s. pombe, homolog of", @@ -293352,14 +305094,15 @@ OMIM:611525 a owl:Class ; "polymerase (dna-directed), delta 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57804 ; - skos:exactMatch HGNC_symbol:POLD4 ; + skos:exactMatch UMLS:C1422411, + HGNC:14106, + HGNC_symbol:POLD4 ; biolink:category biolink:Gene . OMIM:611526 a owl:Class ; rdfs:label "NOP14" ; IAO:0000142 PMID:11694595, PMID:9734812 ; - oboInOwl:hasDbXref UMLS:C1424572 ; oboInOwl:hasExactSynonym "NOP14", "nop14 nucleolar protein", "nop14, s. cerevisiae, homolog of", @@ -293367,42 +305110,46 @@ OMIM:611526 a owl:Class ; "res4-25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8602 ; - skos:exactMatch HGNC_symbol:NOP14 ; + skos:exactMatch UMLS:C1424572, + HGNC:16821, + HGNC_symbol:NOP14 ; biolink:category biolink:Gene . OMIM:611527 a owl:Class ; rdfs:label "NHEDC1" ; IAO:0000142 PMID:16850186 ; - oboInOwl:hasDbXref UMLS:C1969082 ; oboInOwl:hasExactSynonym "NHEDC1", "na+/h+ exchanger domain-containing protein 1", "na+/h+ exchanger protein", "sodium/hydrogen exchanger domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150159 ; - skos:exactMatch HGNC_symbol:SLC9B1 ; + skos:exactMatch UMLS:C1969082, + HGNC:24244, + HGNC_symbol:SLC9B1 ; biolink:category biolink:Gene . OMIM:611528 a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia, familial, 12" ; IAO:0000142 PMID:17924338 ; - oboInOwl:hasDbXref UMLS:C1969081 ; oboInOwl:hasExactSynonym "ARVD12", "arrhythmogenic right ventricular cardiomyopathy 12", "arrhythmogenic right ventricular dysplasia, familial, 12" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1969081 ; biolink:category biolink:Disease . OMIM:611529 a owl:Class ; rdfs:label "CYP2S1" ; IAO:0000142 PMID:11181079 ; - oboInOwl:hasDbXref UMLS:C1423637 ; oboInOwl:hasExactSynonym "CYP2S1", "cytochrome p450, family 2, subfamily s, polypeptide 1", "cytochrome p450, subfamily iis, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29785 ; - skos:exactMatch HGNC_symbol:CYP2S1 ; + skos:exactMatch UMLS:C1423637, + HGNC:15654, + HGNC_symbol:CYP2S1 ; biolink:category biolink:Gene . OMIM:611530 a owl:Class ; @@ -293411,7 +305158,6 @@ OMIM:611530 a owl:Class ; PMID:10574462, PMID:12609826, PMID:24719317 ; - oboInOwl:hasDbXref UMLS:C1423943 ; oboInOwl:hasExactSynonym "NLN", "angiotensin-binding protein", "kiaa1226", @@ -293419,7 +305165,9 @@ OMIM:611530 a owl:Class ; "neurotensin endopeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57486 ; - skos:exactMatch HGNC_symbol:NLN ; + skos:exactMatch UMLS:C1423943, + HGNC:16058, + HGNC_symbol:NLN ; biolink:category biolink:Gene . OMIM:611531 a owl:Class ; @@ -293430,7 +305178,6 @@ OMIM:611531 a owl:Class ; PMID:19463982 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:211180 ; - oboInOwl:hasDbXref UMLS:C1825050 ; oboInOwl:hasExactSynonym "EMG1", "c2f", "emg1 n1-specific pseudouridine methyltransferase", @@ -293438,34 +305185,38 @@ OMIM:611531 a owl:Class ; "nucleolar essential protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10436 ; - skos:exactMatch HGNC_symbol:EMG1 ; + skos:exactMatch UMLS:C1825050, + HGNC:16912, + HGNC_symbol:EMG1 ; biolink:category biolink:Gene . OMIM:611532 a owl:Class ; rdfs:label "NOL6" ; IAO:0000142 PMID:11895476, PMID:15590835 ; - oboInOwl:hasDbXref UMLS:C1426524 ; oboInOwl:hasExactSynonym "NOL6", "nucleolar protein 6", "nucleolar rna-associated protein", "utp22, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65083 ; - skos:exactMatch HGNC_symbol:NOL6 ; + skos:exactMatch UMLS:C1426524, + HGNC:19910, + HGNC_symbol:NOL6 ; biolink:category biolink:Gene . OMIM:611533 a owl:Class ; rdfs:label "NOL7" ; IAO:0000142 PMID:16205646 ; - oboInOwl:hasDbXref UMLS:C1427266 ; oboInOwl:hasExactSynonym "NOL7", "nucleolar protein 7", "nucleolar protein, 27-kd", "retinoic acid repressible protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51406 ; - skos:exactMatch HGNC_symbol:NOL7 ; + skos:exactMatch UMLS:C1427266, + HGNC:21040, + HGNC_symbol:NOL7 ; biolink:category biolink:Gene . OMIM:611534 a owl:Class ; @@ -293473,33 +305224,34 @@ OMIM:611534 a owl:Class ; IAO:0000142 PMID:14660641, PMID:15132771, PMID:16963496 ; - oboInOwl:hasDbXref UMLS:C1428064 ; oboInOwl:hasExactSynonym "NOL8", "nop132", "nucleolar protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55035 ; - skos:exactMatch HGNC_symbol:NOL8 ; + skos:exactMatch UMLS:C1428064, + HGNC:23387, + HGNC_symbol:NOL8 ; biolink:category biolink:Gene . OMIM:611537 a owl:Class ; rdfs:label "CTNNBL1" ; IAO:0000142 PMID:12659813, PMID:18722174 ; - oboInOwl:hasDbXref UMLS:C1423800 ; oboInOwl:hasExactSynonym "CTNNBL1", "catenin, beta-like, 1", "nuclear-associated protein", "nyd-sp19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56259 ; - skos:exactMatch HGNC_symbol:CTNNBL1 ; + skos:exactMatch UMLS:C1423800, + HGNC:15879, + HGNC_symbol:CTNNBL1 ; biolink:category biolink:Gene . OMIM:611538 a owl:Class ; rdfs:label "OR7D4" ; IAO:0000142 PMID:17873857 ; - oboInOwl:hasDbXref UMLS:C1418113 ; oboInOwl:hasExactSynonym "OR7D4", "odorant receptor family subfamily d, member 4rt", "olfactory receptor or19-7", @@ -293507,7 +305259,9 @@ OMIM:611538 a owl:Class ; "or19-b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125958 ; - skos:exactMatch HGNC_symbol:OR7D4 ; + skos:exactMatch UMLS:C1418113, + HGNC:8380, + HGNC_symbol:OR7D4 ; biolink:category biolink:Gene . OMIM:611539 a owl:Class ; @@ -293518,26 +305272,28 @@ OMIM:611539 a owl:Class ; PMID:8798505 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:607836 ; - oboInOwl:hasDbXref UMLS:C1414672 ; oboInOwl:hasExactSynonym "FOXD3", "forkhead box d3", "genesis, mouse, homolog of", "hfh2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27022 ; - skos:exactMatch HGNC_symbol:FOXD3 ; + skos:exactMatch UMLS:C1414672, + HGNC:3804, + HGNC_symbol:FOXD3 ; biolink:category biolink:Gene . OMIM:611540 a owl:Class ; rdfs:label "SGIP1" ; IAO:0000142 PMID:15919751, PMID:17626015 ; - oboInOwl:hasDbXref UMLS:C1539762 ; oboInOwl:hasExactSynonym "SGIP1", "sh3-domain grb2-like (endophilin)-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84251 ; - skos:exactMatch HGNC_symbol:SGIP1 ; + skos:exactMatch UMLS:C1539762, + HGNC:25412, + HGNC_symbol:SGIP1 ; biolink:category biolink:Gene . OMIM:611541 a owl:Class ; @@ -293546,13 +305302,14 @@ OMIM:611541 a owl:Class ; PMID:17351151, PMID:17577583, PMID:21300787 ; - oboInOwl:hasDbXref UMLS:C1426661 ; oboInOwl:hasExactSynonym "SNX27", "methamphetamine-responsive transcript 1", "sorting nexin 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81609 ; - skos:exactMatch HGNC_symbol:SNX27 ; + skos:exactMatch UMLS:C1426661, + HGNC:20073, + HGNC_symbol:SNX27 ; biolink:category biolink:Gene . OMIM:611542 a owl:Class ; @@ -293590,16 +305347,17 @@ OMIM:611542 a owl:Class ; PMID:9593674 ; RO:0002525 CHR:9606chr5q14.1 ; RO:0003303 OMIM:253200 ; - oboInOwl:hasDbXref UMLS:C0026709, - UMLS:C1412554, - UMLS:C4017252, - UMLS:C4017253, - UMLS:C4017254 ; oboInOwl:hasExactSynonym "ARSB", "arylsulfatase B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:411 ; - skos:exactMatch HGNC_symbol:ARSB ; + skos:exactMatch UMLS:C0026709, + UMLS:C1412554, + UMLS:C4017252, + UMLS:C4017253, + UMLS:C4017254, + HGNC:714, + HGNC_symbol:ARSB ; biolink:category biolink:Gene . OMIM:611545 a owl:Class ; @@ -293609,13 +305367,14 @@ OMIM:611545 a owl:Class ; PMID:12464258, PMID:15789615, PMID:16112640 ; - oboInOwl:hasDbXref UMLS:C1413891 ; oboInOwl:hasExactSynonym "CYP4F8", "cytochrome p450, family 4, subfamily f, polypeptide 8", "cytochrome p450, subfamily ivf, polypeptide 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11283 ; - skos:exactMatch HGNC_symbol:CYP4F8 ; + skos:exactMatch UMLS:C1413891, + HGNC:2648, + HGNC_symbol:CYP4F8 ; biolink:category biolink:Gene . OMIM:611546 a owl:Class ; @@ -293623,14 +305382,15 @@ OMIM:611546 a owl:Class ; IAO:0000142 PMID:11567032, PMID:12032166, PMID:17906635 ; - oboInOwl:hasDbXref UMLS:C1423759 ; oboInOwl:hasExactSynonym "ELOVL6", "elongation of very long chain fatty acids-like 6", "fatty acyl-coa elongase", "long-chain fatty-acyl elongase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79071 ; - skos:exactMatch HGNC_symbol:ELOVL6 ; + skos:exactMatch UMLS:C1423759, + HGNC:15829, + HGNC_symbol:ELOVL6 ; biolink:category biolink:Gene . OMIM:611547 a owl:Class ; @@ -293643,9 +305403,9 @@ OMIM:611547 a owl:Class ; PMID:19132395, PMID:19343178 ; RO:0002525 CHR:9606chr12q14.3 ; - oboInOwl:hasDbXref UMLS:C1969061 ; oboInOwl:hasExactSynonym "STQTL9", "stature quantitative trait locus 9" ; + skos:exactMatch UMLS:C1969061 ; biolink:category biolink:Disease . OMIM:611549 a owl:Class ; @@ -293662,12 +305422,13 @@ OMIM:611549 a owl:Class ; PMID:31147513 ; RO:0002525 CHR:9606chr13q32.3-q33.1 ; RO:0003303 OMIM:615419 ; - oboInOwl:hasDbXref UMLS:C1969059 ; oboInOwl:hasExactSynonym "NALCN", "sodium leak channel, nonselective" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259232 ; - skos:exactMatch HGNC_symbol:NALCN ; + skos:exactMatch UMLS:C1969059, + HGNC:19082, + HGNC_symbol:NALCN ; biolink:category biolink:Gene . OMIM:611550 a owl:Class ; @@ -293686,7 +305447,6 @@ OMIM:611550 a owl:Class ; PMID:26094914 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:609148 ; - oboInOwl:hasDbXref UMLS:C1425993 ; oboInOwl:hasExactSynonym "1c7", "NCR3", "activating natural killer receptor p30", @@ -293694,76 +305454,82 @@ OMIM:611550 a owl:Class ; "natural cytotoxicity triggering receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259197 ; - skos:exactMatch HGNC_symbol:NCR3 ; + skos:exactMatch UMLS:C1425993, + HGNC:19077, + HGNC_symbol:NCR3 ; biolink:category biolink:Gene . OMIM:611551 a owl:Class ; rdfs:label "FBLN7" ; IAO:0000142 PMID:17699513 ; - oboInOwl:hasDbXref UMLS:C1969058 ; oboInOwl:hasExactSynonym "FBLN7", "fibulin 7", "tm14, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129804 ; - skos:exactMatch HGNC_symbol:FBLN7 ; + skos:exactMatch UMLS:C1969058, + HGNC:26740, + HGNC_symbol:FBLN7 ; biolink:category biolink:Gene . OMIM:611552 a owl:Class ; rdfs:label "NAPRT" ; IAO:0000142 PMID:17604275, PMID:31019297 ; - oboInOwl:hasDbXref UMLS:C1826348 ; oboInOwl:hasExactSynonym "NAPRT", "nicotinate phosphoribosyltransferase", "nicotinate phosphoribosyltransferase domain-containing 1", "nicotinic acid phosphoribosyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93100 ; - skos:exactMatch HGNC_symbol:NAPRT ; + skos:exactMatch UMLS:C1826348, + HGNC:30450, + HGNC_symbol:NAPRT ; biolink:category biolink:Gene . OMIM:611554 a owl:Class ; rdfs:label "leopard syndrome 2" ; IAO:0000142 PMID:17603483 ; - oboInOwl:hasDbXref UMLS:C1969056 ; oboInOwl:hasExactSynonym "LPRD2", "leopard syndrome 2" ; rdfs:subClassOf OMIMPS:151100 ; + skos:exactMatch UMLS:C1969056 ; biolink:category biolink:Disease . OMIM:611555 a owl:Class ; rdfs:label "renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies" ; IAO:0000142 PMID:17663471 ; - oboInOwl:hasDbXref UMLS:C1969055 ; - oboInOwl:hasExactSynonym "renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies" . + oboInOwl:hasExactSynonym "renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies" ; + skos:exactMatch UMLS:C1969055 . OMIM:611557 a owl:Class ; rdfs:label "UPK1A" ; IAO:0000142 PMID:15913809, PMID:8175808, PMID:9846985 ; - oboInOwl:hasDbXref UMLS:C1421364 ; oboInOwl:hasExactSynonym "UPK1A", "upia", "uroplakin 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11045 ; - skos:exactMatch HGNC_symbol:UPK1A ; + skos:exactMatch UMLS:C1421364, + HGNC:12577, + HGNC_symbol:UPK1A ; biolink:category biolink:Gene . OMIM:611558 a owl:Class ; rdfs:label "UPK2" ; IAO:0000142 PMID:8175808, PMID:9846985 ; - oboInOwl:hasDbXref UMLS:C1421366 ; oboInOwl:hasExactSynonym "UPK2", "up2", "upii", "uroplakin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7379 ; - skos:exactMatch HGNC_symbol:UPK2 ; + skos:exactMatch UMLS:C1421366, + HGNC:12579, + HGNC_symbol:UPK2 ; biolink:category biolink:Gene . OMIM:611559 a owl:Class ; @@ -293778,7 +305544,6 @@ OMIM:611559 a owl:Class ; PMID:8175808, PMID:9818021, PMID:9846985 ; - oboInOwl:hasDbXref UMLS:C1421367 ; oboInOwl:hasExactSynonym "UPK3A", "upiii", "upiiia", @@ -293786,7 +305551,9 @@ OMIM:611559 a owl:Class ; "uroplakin 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7380 ; - skos:exactMatch HGNC_symbol:UPK3A ; + skos:exactMatch UMLS:C1421367, + HGNC:12580, + HGNC_symbol:UPK3A ; biolink:category biolink:Gene . OMIM:611560 a owl:Class ; @@ -293794,10 +305561,10 @@ OMIM:611560 a owl:Class ; IAO:0000142 PMID:17558407, PMID:17558409, PMID:18565097 ; - oboInOwl:hasDbXref UMLS:C1969053 ; oboInOwl:hasExactSynonym "JBTS7", "joubert syndrome 7" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C1969053 ; biolink:category biolink:Disease . OMIM:611562 a owl:Class ; @@ -293810,23 +305577,25 @@ OMIM:611562 a owl:Class ; PMID:22479503 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:614822 ; - oboInOwl:hasDbXref UMLS:C1822675 ; oboInOwl:hasExactSynonym "SEPT12", "septin 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124404 ; - skos:exactMatch HGNC_symbol:SEPTIN12 ; + skos:exactMatch UMLS:C1822675, + HGNC:26348, + HGNC_symbol:SEPTIN12 ; biolink:category biolink:Gene . OMIM:611563 a owl:Class ; rdfs:label "SEPT13" ; IAO:0000142 PMID:15915442 ; - oboInOwl:hasDbXref UMLS:C1822674 ; oboInOwl:hasExactSynonym "SEPT13", "septin 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641977 ; - skos:exactMatch HGNC_symbol:SEPTIN7P2 ; + skos:exactMatch UMLS:C1822674, + HGNC:32339, + HGNC_symbol:SEPTIN7P2 ; biolink:category biolink:Gene . OMIM:611564 a owl:Class ; @@ -293836,13 +305605,14 @@ OMIM:611564 a owl:Class ; PMID:15371550, PMID:15701641, PMID:16166625 ; - oboInOwl:hasDbXref UMLS:C1538317 ; oboInOwl:hasExactSynonym "BANP", "btg3-associated nuclear protein", "scaffold/matrix-associated region 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54971 ; - skos:exactMatch HGNC_symbol:BANP ; + skos:exactMatch UMLS:C1538317, + HGNC:13450, + HGNC_symbol:BANP ; biolink:category biolink:Gene . OMIM:611565 a owl:Class ; @@ -293855,40 +305625,43 @@ OMIM:611565 a owl:Class ; PMID:29290337 ; RO:0002525 CHR:9606chr4q27 ; RO:0003303 OMIM:617822 ; - oboInOwl:hasDbXref UMLS:C1537461 ; oboInOwl:hasExactSynonym "KIAA1109", "kiaa1109 gene", "tweek, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84162 ; - skos:exactMatch HGNC_symbol:KIAA1109 ; + skos:exactMatch UMLS:C1537461, + HGNC:26953, + HGNC_symbol:KIAA1109 ; biolink:category biolink:Gene . OMIM:611566 a owl:Class ; rdfs:label "PRPS1L1" ; IAO:0000142 PMID:2168892 ; - oboInOwl:hasDbXref UMLS:C1418955 ; oboInOwl:hasExactSynonym "PRPS1L1", "phosphoribosylpyrophosphate synthetase 1-like 1", "phosphoribosylpyrophosphate synthetase 3", "prps1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221823 ; - skos:exactMatch HGNC_symbol:PRPS1L1 ; + skos:exactMatch UMLS:C1418955, + HGNC:9463, + HGNC_symbol:PRPS1L1 ; biolink:category biolink:Gene . OMIM:611567 a owl:Class ; rdfs:label "MACROD2" ; IAO:0000142 PMID:17586838, PMID:18593871 ; - oboInOwl:hasDbXref UMLS:C1424006 ; oboInOwl:hasExactSynonym "MACROD2", "chromosome 20 open reading frame 133", "macro domain-containing 2", "mono-adp ribosylhydrolase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140733 ; - skos:exactMatch HGNC_symbol:MACROD2 ; + skos:exactMatch UMLS:C1424006, + HGNC:16126, + HGNC_symbol:MACROD2 ; biolink:category biolink:Gene . OMIM:611568 a owl:Class ; @@ -293899,7 +305672,6 @@ OMIM:611568 a owl:Class ; PMID:16157705, PMID:16750881, PMID:17611281 ; - oboInOwl:hasDbXref UMLS:C1969051 ; oboInOwl:hasExactSynonym "SYBU", "golgi-localized syntaphilin-related protein", "golsyn B", @@ -293909,7 +305681,9 @@ OMIM:611568 a owl:Class ; "syntabulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55638 ; - skos:exactMatch HGNC_symbol:SYBU ; + skos:exactMatch UMLS:C1969051, + HGNC:26011, + HGNC_symbol:SYBU ; biolink:category biolink:Gene . OMIM:611569 a owl:Class ; @@ -293918,14 +305692,15 @@ OMIM:611569 a owl:Class ; PMID:16876122, PMID:17376772, PMID:9771967 ; - oboInOwl:hasDbXref UMLS:C1413432 ; oboInOwl:hasExactSynonym "CKAP2", "cytoskeleton-associated protein 2", "lb1", "tumor- and microtubule-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26586 ; - skos:exactMatch HGNC_symbol:CKAP2 ; + skos:exactMatch UMLS:C1413432, + HGNC:1990, + HGNC_symbol:CKAP2 ; biolink:category biolink:Gene . OMIM:611570 a owl:Class ; @@ -293941,15 +305716,16 @@ OMIM:611570 a owl:Class ; PMID:9678974 ; RO:0002525 CHR:9606chr9q22.32 ; RO:0003303 OMIM:229700 ; - oboInOwl:hasDbXref UMLS:C0016756, - UMLS:C1414544 ; oboInOwl:hasExactSynonym "FBP1", "fructose-1,6-bisphosphatase 1", "fructose-1,6-bisphosphatase, liver", "fructose-1,6-diphosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2203 ; - skos:exactMatch HGNC_symbol:FBP1 ; + skos:exactMatch UMLS:C0016756, + UMLS:C1414544, + HGNC:3606, + HGNC_symbol:FBP1 ; biolink:category biolink:Gene . OMIM:611573 a owl:Class ; @@ -293959,7 +305735,6 @@ OMIM:611573 a owl:Class ; PMID:14976195, PMID:15315829, PMID:19965467 ; - oboInOwl:hasDbXref UMLS:C1428890 ; oboInOwl:hasExactSynonym "SGMS1", "medulla oblongata-derived protein", "sms1", @@ -293967,7 +305742,9 @@ OMIM:611573 a owl:Class ; "transmembrane protein 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259230 ; - skos:exactMatch HGNC_symbol:SGMS1 ; + skos:exactMatch UMLS:C1428890, + HGNC:29799, + HGNC_symbol:SGMS1 ; biolink:category biolink:Gene . OMIM:611574 a owl:Class ; @@ -293977,25 +305754,27 @@ OMIM:611574 a owl:Class ; PMID:30779713 ; RO:0002525 CHR:9606chr4q25 ; RO:0003303 OMIM:126550 ; - oboInOwl:hasDbXref UMLS:C1969043 ; oboInOwl:hasExactSynonym "SGMS2", "sms2", "sphingomyelin synthase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166929 ; - skos:exactMatch HGNC_symbol:SGMS2 ; + skos:exactMatch UMLS:C1969043, + HGNC:28395, + HGNC_symbol:SGMS2 ; biolink:category biolink:Gene . OMIM:611575 a owl:Class ; rdfs:label "SAMD8" ; IAO:0000142 PMID:14685263 ; - oboInOwl:hasDbXref UMLS:C1428572 ; oboInOwl:hasExactSynonym "SAMD8", "sphingomyelin synthase-related", "sterile alpha motif domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142891 ; - skos:exactMatch HGNC_symbol:SAMD8 ; + skos:exactMatch UMLS:C1428572, + HGNC:26320, + HGNC_symbol:SAMD8 ; biolink:category biolink:Gene . OMIM:611576 a owl:Class ; @@ -294005,14 +305784,15 @@ OMIM:611576 a owl:Class ; PMID:16549775, PMID:17898713, PMID:18308931 ; - oboInOwl:hasDbXref UMLS:C1537708 ; oboInOwl:hasExactSynonym "MIR10B", "micro RNA 10b", "mirn10b", "mirna10b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406903 ; - skos:exactMatch HGNC_symbol:MIR10B ; + skos:exactMatch UMLS:C1537708, + HGNC:31498, + HGNC_symbol:MIR10B ; biolink:category biolink:Gene . OMIM:611577 a owl:Class ; @@ -294030,9 +305810,6 @@ OMIM:611577 a owl:Class ; PMID:32299951 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:618505 ; - oboInOwl:hasDbXref UMLS:C1428772, - UMLS:C2986382, - UMLS:C5193134 ; oboInOwl:hasExactSynonym "KDM6B", "jumonji domain-containing protein 3", "kiaa0346", @@ -294040,43 +305817,50 @@ OMIM:611577 a owl:Class ; "lysine-specific demethylase 6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23135 ; - skos:exactMatch HGNC_symbol:KDM6B ; + skos:exactMatch UMLS:C1428772, + UMLS:C2986382, + UMLS:C5193134, + HGNC:29012, + HGNC_symbol:KDM6B ; biolink:category biolink:Gene . OMIM:611578 a owl:Class ; rdfs:label "FRRS1" ; IAO:0000142 PMID:14499595 ; - oboInOwl:hasDbXref UMLS:C1825318 ; oboInOwl:hasExactSynonym "FRRS1", "ferric chelate reductase 1", "stromal cell-derived receptor 2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391059 ; - skos:exactMatch HGNC_symbol:FRRS1 ; + skos:exactMatch UMLS:C1825318, + HGNC:27622, + HGNC_symbol:FRRS1 ; biolink:category biolink:Gene . OMIM:611579 a owl:Class ; rdfs:label "TMEM114" ; IAO:0000142 PMID:17492639 ; - oboInOwl:hasDbXref UMLS:C1969042 ; oboInOwl:hasExactSynonym "TMEM114", "transmembrane protein 114" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283953 ; - skos:exactMatch HGNC_symbol:TMEM114 ; + skos:exactMatch UMLS:C1969042, + HGNC:33227, + HGNC_symbol:TMEM114 ; biolink:category biolink:Gene . OMIM:611580 a owl:Class ; rdfs:label "EDDM3A" ; IAO:0000142 PMID:7514008 ; - oboInOwl:hasDbXref UMLS:C1424671 ; oboInOwl:hasExactSynonym "EDDM3A", "epididymal protein 3a", "family with sequence similarity 12, member a", "human epididymis-specific protein 3, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10876 ; - skos:exactMatch HGNC_symbol:EDDM3A ; + skos:exactMatch UMLS:C1424671, + HGNC:16978, + HGNC_symbol:EDDM3A ; biolink:category biolink:Gene . OMIM:611581 a owl:Class ; @@ -294087,13 +305871,14 @@ OMIM:611582 a owl:Class ; rdfs:label "FAM12B" ; IAO:0000142 PMID:1693137, PMID:7514008 ; - oboInOwl:hasDbXref UMLS:C1426098 ; oboInOwl:hasExactSynonym "FAM12B", "family with sequence similarity 12, member B", "human epididymis-specific 3, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64184 ; - skos:exactMatch HGNC_symbol:EDDM3B ; + skos:exactMatch UMLS:C1426098, + HGNC:19223, + HGNC_symbol:EDDM3B ; biolink:category biolink:Gene . OMIM:611583 a owl:Class ; @@ -294103,14 +305888,15 @@ OMIM:611583 a owl:Class ; PMID:21346191, PMID:23676272, PMID:8649988 ; - oboInOwl:hasDbXref UMLS:C1424934 ; oboInOwl:hasExactSynonym "ARID5A", "arid-containing protein 5a", "at-rich interaction domain-containing protein 5a", "modulator recognition factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10865 ; - skos:exactMatch HGNC_symbol:ARID5A ; + skos:exactMatch UMLS:C1424934, + HGNC:17361, + HGNC_symbol:ARID5A ; biolink:category biolink:Gene . OMIM:611584 a owl:Class ; @@ -294126,15 +305912,15 @@ OMIM:611584 a owl:Class ; PMID:26100139, PMID:8911608, PMID:9279758 ; - oboInOwl:hasDbXref UMLS:C2700405, - ORPHA:3440, - ORPHA:895 ; oboInOwl:hasExactSynonym "WS2E", "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation", "waardenburg syndrome, iia 2e", "waardenburg syndrome, iia 2e, with or without neurologic involvement", "ws2e, with or without neurologic involvement" ; rdfs:subClassOf OMIMPS:193500 ; + skos:exactMatch UMLS:C2700405, + ORPHA:3440, + ORPHA:895 ; biolink:category biolink:Disease . OMIM:611585 a owl:Class ; @@ -294142,14 +305928,15 @@ OMIM:611585 a owl:Class ; IAO:0000142 PMID:11145610, PMID:11696366, PMID:17717601 ; - oboInOwl:hasDbXref UMLS:C1823264 ; oboInOwl:hasExactSynonym "TESC", "tescalcin", "tescalcin, mouse, homolog of", "tsc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54997 ; - skos:exactMatch HGNC_symbol:TESC ; + skos:exactMatch UMLS:C1823264, + HGNC:26065, + HGNC_symbol:TESC ; biolink:category biolink:Gene . OMIM:611586 a owl:Class ; @@ -294158,39 +305945,42 @@ OMIM:611586 a owl:Class ; PMID:21262840, PMID:27478018, PMID:9878755 ; - oboInOwl:hasDbXref UMLS:C1538975 ; oboInOwl:hasExactSynonym "C1QL1", "c1q-related factor", "c1qrf", "complement component 1, q subcomponent-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10882 ; - skos:exactMatch HGNC_symbol:C1QL1 ; + skos:exactMatch UMLS:C1538975, + HGNC:24182, + HGNC_symbol:C1QL1 ; biolink:category biolink:Gene . OMIM:611587 a owl:Class ; rdfs:label "ARHGAP19" ; IAO:0000142 PMID:17454002 ; - oboInOwl:hasDbXref UMLS:C1428225 ; oboInOwl:hasExactSynonym "ARHGAP19", "gtpase-activating protein, rho, 19", "rho gtpase-activating protein 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84986 ; - skos:exactMatch HGNC_symbol:ARHGAP19 ; + skos:exactMatch UMLS:C1428225, + HGNC:23724, + HGNC_symbol:ARHGAP19 ; biolink:category biolink:Gene . OMIM:611589 a owl:Class ; rdfs:label "PNPLA5" ; IAO:0000142 PMID:16799181, PMID:17603008 ; - oboInOwl:hasDbXref UMLS:C1538688 ; oboInOwl:hasExactSynonym "PNPLA5", "gs2-like protein", "patatin-like phospholipase domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150379 ; - skos:exactMatch HGNC_symbol:PNPLA5 ; + skos:exactMatch UMLS:C1538688, + HGNC:24888, + HGNC_symbol:PNPLA5 ; biolink:category biolink:Gene . OMIM:611590 a owl:Class ; @@ -294200,26 +305990,27 @@ OMIM:611590 a owl:Class ; PMID:12938018, PMID:15211439, PMID:9854053 ; - oboInOwl:hasDbXref UMLS:C5436235, - ORPHA:18, - ORPHA:93610 ; oboInOwl:hasExactSynonym "DRTA4", "renal tubular acidosis, distal, 4, with hemolytic anemia", "renal tubular acidosis, distal, with normal red cell morphology" ; rdfs:subClassOf OMIMPS:179800 ; + skos:exactMatch UMLS:C5436235, + ORPHA:18, + ORPHA:93610 ; biolink:category biolink:Disease . OMIM:611591 a owl:Class ; rdfs:label "PPBPP2" ; IAO:0000142 PMID:7887923 ; - oboInOwl:hasDbXref UMLS:C1538707 ; oboInOwl:hasExactSynonym "PPBPP2", "dna-binding protein amplifying expression of surfactant protein B", "pro-platelet basic protein pseudogene 2", "pro-platelet basic protein-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10895 ; - skos:exactMatch HGNC_symbol:PPBPP2 ; + skos:exactMatch UMLS:C1538707, + HGNC:16981, + HGNC_symbol:PPBPP2 ; biolink:category biolink:Gene . OMIM:611592 a owl:Class ; @@ -294234,14 +306025,15 @@ OMIM:611592 a owl:Class ; PMID:29126765 ; RO:0002525 CHR:9606chr6p25.1 ; RO:0003303 OMIM:617046 ; - oboInOwl:hasDbXref UMLS:C1539476 ; oboInOwl:hasExactSynonym "FARS2", "fars1", "mitochondrial phers", "phenylalanyl-trna synthetase 2, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10667 ; - skos:exactMatch HGNC_symbol:FARS2 ; + skos:exactMatch UMLS:C1539476, + HGNC:21062, + HGNC_symbol:FARS2 ; biolink:category biolink:Gene . OMIM:611593 a owl:Class ; @@ -294249,7 +306041,6 @@ OMIM:611593 a owl:Class ; IAO:0000142 PMID:10731710, PMID:479131, PMID:7982889 ; - oboInOwl:hasDbXref UMLS:C1539794 ; oboInOwl:hasExactSynonym "SMR3B", "p-b peptide", "pbii", @@ -294258,20 +306049,23 @@ OMIM:611593 a owl:Class ; "submaxillary gland androgen-regulated protein 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10879 ; - skos:exactMatch HGNC_symbol:SMR3B ; + skos:exactMatch UMLS:C1539794, + HGNC:17326, + HGNC_symbol:SMR3B ; biolink:category biolink:Gene . OMIM:611594 a owl:Class ; rdfs:label "USP39" ; IAO:0000142 PMID:10022888, PMID:11350945 ; - oboInOwl:hasDbXref UMLS:C1426659 ; oboInOwl:hasExactSynonym "USP39", "snrnp assembly defective 1, s. cerevisiae, homolog of", "ubiquitin-specific protease 39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10713 ; - skos:exactMatch HGNC_symbol:USP39 ; + skos:exactMatch UMLS:C1426659, + HGNC:20071, + HGNC_symbol:USP39 ; biolink:category biolink:Gene . OMIM:611595 a owl:Class ; @@ -294285,8 +306079,6 @@ OMIM:611595 a owl:Class ; PMID:25434003 ; RO:0002525 CHR:9606chr18q23 ; RO:0003303 OMIM:608572 ; - oboInOwl:hasDbXref UMLS:C1540140, - UMLS:C1837822 ; oboInOwl:hasExactSynonym "TXNL4A", "dim1, s. pombe, homolog of", "thioredoxin-like 4a", @@ -294294,7 +306086,10 @@ OMIM:611595 a owl:Class ; "u5-15kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10907 ; - skos:exactMatch HGNC_symbol:TXNL4A ; + skos:exactMatch UMLS:C1540140, + UMLS:C1837822, + HGNC:30551, + HGNC_symbol:TXNL4A ; biolink:category biolink:Gene . OMIM:611596 a owl:Class ; @@ -294304,14 +306099,15 @@ OMIM:611596 a owl:Class ; PMID:17230527, PMID:22891334, PMID:23036705 ; - oboInOwl:hasDbXref UMLS:C1424673 ; oboInOwl:hasExactSynonym "DHRS4", "nadph-dependent retinol dehydrogenase/reductase", "sdr family, member 4", "short-chain dehydrogenase/reductase family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10901 ; - skos:exactMatch HGNC_symbol:DHRS4 ; + skos:exactMatch UMLS:C1424673, + HGNC:16985, + HGNC_symbol:DHRS4 ; biolink:category biolink:Gene . OMIM:611599 a owl:Class ; @@ -294321,14 +306117,15 @@ OMIM:611599 a owl:Class ; PMID:19626115, PMID:20007902, PMID:22000014 ; - oboInOwl:hasDbXref UMLS:C1537844 ; oboInOwl:hasExactSynonym "MIR206", "micro RNA 206", "mirn206", "mirna206" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406989 ; - skos:exactMatch HGNC_symbol:MIR206 ; + skos:exactMatch UMLS:C1537844, + HGNC:31584, + HGNC_symbol:MIR206 ; biolink:category biolink:Gene . OMIM:611600 a owl:Class ; @@ -294336,7 +306133,6 @@ OMIM:611600 a owl:Class ; IAO:0000142 PMID:10748113, PMID:12620390, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1427473 ; oboInOwl:hasExactSynonym "RIMS3", "kiaa0237", "nim3", @@ -294344,19 +306140,22 @@ OMIM:611600 a owl:Class ; "rim3-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9783 ; - skos:exactMatch HGNC_symbol:RIMS3 ; + skos:exactMatch UMLS:C1427473, + HGNC:21292, + HGNC_symbol:RIMS3 ; biolink:category biolink:Gene . OMIM:611601 a owl:Class ; rdfs:label "RIMS4" ; IAO:0000142 PMID:12620390 ; - oboInOwl:hasDbXref UMLS:C1424060 ; oboInOwl:hasExactSynonym "RIMS4", "protein regulating synaptic membrane exocytosis 4", "rim4-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140730 ; - skos:exactMatch HGNC_symbol:RIMS4 ; + skos:exactMatch UMLS:C1424060, + HGNC:16183, + HGNC_symbol:RIMS4 ; biolink:category biolink:Gene . OMIM:611602 a owl:Class ; @@ -294364,13 +306163,14 @@ OMIM:611602 a owl:Class ; IAO:0000142 PMID:10748113, PMID:17855024, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1826830 ; oboInOwl:hasExactSynonym "RIMBP2", "kiaa0318", "rims-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23504 ; - skos:exactMatch HGNC_symbol:RIMBP2 ; + skos:exactMatch UMLS:C1826830, + HGNC:30339, + HGNC_symbol:RIMBP2 ; biolink:category biolink:Gene . OMIM:611604 a owl:Class ; @@ -294380,13 +306180,14 @@ OMIM:611604 a owl:Class ; PMID:24482476 ; RO:0002525 CHR:9606chr10q24.31 ; RO:0003303 OMIM:615681 ; - oboInOwl:hasDbXref UMLS:C1539836 ; oboInOwl:hasExactSynonym "ERLIN1", "endoplasmic reticulum lipid raft-associated protein 1", "keo4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10613 ; - skos:exactMatch HGNC_symbol:ERLIN1 ; + skos:exactMatch UMLS:C1539836, + HGNC:16947, + HGNC_symbol:ERLIN1 ; biolink:category biolink:Gene . OMIM:611605 a owl:Class ; @@ -294399,14 +306200,15 @@ OMIM:611605 a owl:Class ; PMID:23109145 ; RO:0002525 CHR:9606chr8p11.23 ; RO:0003303 OMIM:611225 ; - oboInOwl:hasDbXref UMLS:C1539837 ; oboInOwl:hasExactSynonym "ERLIN2", "chromosome 8 open reading frame 2", "endoplasmic reticulum lipid raft-associated protein 2", "spfh domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11160 ; - skos:exactMatch HGNC_symbol:ERLIN2 ; + skos:exactMatch UMLS:C1539837, + HGNC:1356, + HGNC_symbol:ERLIN2 ; biolink:category biolink:Gene . OMIM:611606 a owl:Class ; @@ -294422,14 +306224,15 @@ OMIM:611606 a owl:Class ; PMID:29325119 ; RO:0002525 CHR:9606chr7q32.2 ; RO:0003303 OMIM:613074 ; - oboInOwl:hasDbXref UMLS:C1537752 ; oboInOwl:hasExactSynonym "MIR96", "micro RNA 96", "mirn96", "mirna96" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407053 ; - skos:exactMatch HGNC_symbol:MIR96 ; + skos:exactMatch UMLS:C1537752, + HGNC:31648, + HGNC_symbol:MIR96 ; biolink:category biolink:Gene . OMIM:611607 a owl:Class ; @@ -294438,14 +306241,15 @@ OMIM:611607 a owl:Class ; PMID:17597072, PMID:19188590, PMID:20478254 ; - oboInOwl:hasDbXref UMLS:C1537816 ; oboInOwl:hasExactSynonym "MIR182", "micro RNA 182", "mirn182", "mirna182" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406958 ; - skos:exactMatch HGNC_symbol:MIR182 ; + skos:exactMatch UMLS:C1537816, + HGNC:31553, + HGNC_symbol:MIR182 ; biolink:category biolink:Gene . OMIM:611608 a owl:Class ; @@ -294456,37 +306260,40 @@ OMIM:611608 a owl:Class ; PMID:24368418, PMID:25055867, PMID:28572455 ; - oboInOwl:hasDbXref UMLS:C1537817 ; oboInOwl:hasExactSynonym "MIR183", "micro RNA 183", "mirn183", "mirna183" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406959 ; - skos:exactMatch HGNC_symbol:MIR183 ; + skos:exactMatch UMLS:C1537817, + HGNC:31554, + HGNC_symbol:MIR183 ; biolink:category biolink:Gene . OMIM:611609 a owl:Class ; rdfs:label "SIPA1L2" ; IAO:0000142 PMID:10718198 ; - oboInOwl:hasDbXref UMLS:C1428268 ; oboInOwl:hasExactSynonym "SIPA1L2", "kiaa1389", "sipa1-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57568 ; - skos:exactMatch HGNC_symbol:SIPA1L2 ; + skos:exactMatch UMLS:C1428268, + HGNC:23800, + HGNC_symbol:SIPA1L2 ; biolink:category biolink:Gene . OMIM:611610 a owl:Class ; rdfs:label "PGM2L1" ; IAO:0000142 PMID:17804405 ; - oboInOwl:hasDbXref UMLS:C1427194 ; oboInOwl:hasExactSynonym "PGM2L1", "phosphoglucomutase 2-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283209 ; - skos:exactMatch HGNC_symbol:PGM2L1 ; + skos:exactMatch UMLS:C1427194, + HGNC:20898, + HGNC_symbol:PGM2L1 ; biolink:category biolink:Gene . OMIM:611611 a owl:Class ; @@ -294496,87 +306303,93 @@ OMIM:611611 a owl:Class ; PMID:28794130 ; RO:0002525 CHR:9606chr15q24.3 ; RO:0003303 OMIM:618195 ; - oboInOwl:hasDbXref UMLS:C1421773 ; oboInOwl:hasExactSynonym "SCAPER", "kiaa1454", "s-phase cyclin a-associated protein 1n the endoplasmic reticulum", "zinc finger protein 291" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:49855 ; - skos:exactMatch HGNC_symbol:SCAPER ; + skos:exactMatch UMLS:C1421773, + HGNC:13081, + HGNC_symbol:SCAPER ; biolink:category biolink:Gene . OMIM:611612 a owl:Class ; rdfs:label "THTPA" ; IAO:0000142 PMID:11827967 ; - oboInOwl:hasDbXref UMLS:C1425934 ; oboInOwl:hasExactSynonym "THTPA", "thiamine triphosphatase", "thtpase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79178 ; - skos:exactMatch HGNC_symbol:THTPA ; + skos:exactMatch UMLS:C1425934, + HGNC:18987, + HGNC_symbol:THTPA ; biolink:category biolink:Gene . OMIM:611613 a owl:Class ; rdfs:label "POGLUT2" ; IAO:0000142 PMID:11167020, PMID:30127001 ; - oboInOwl:hasDbXref UMLS:C1426182 ; oboInOwl:hasExactSynonym "POGLUT2", "endoplasmic reticulum resident protein 58", "kdel motif-containing protein 1", "protein o-glucosyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79070 ; - skos:exactMatch HGNC_symbol:POGLUT2 ; + skos:exactMatch UMLS:C1426182, + HGNC:19350, + HGNC_symbol:POGLUT2 ; biolink:category biolink:Gene . OMIM:611614 a owl:Class ; rdfs:label "UTP3" ; IAO:0000142 PMID:11404095, PMID:17015728 ; - oboInOwl:hasDbXref UMLS:C1969026 ; oboInOwl:hasExactSynonym "UTP3", "charged amino acid-rich leucine zipper 1", "utp3 small subunit processome component", "utp3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57050 ; - skos:exactMatch HGNC_symbol:UTP3 ; + skos:exactMatch UMLS:C1969026, + HGNC:24477, + HGNC_symbol:UTP3 ; biolink:category biolink:Gene . OMIM:611615 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1x" ; IAO:0000142 PMID:17036286 ; - oboInOwl:hasDbXref UMLS:C1969024 ; oboInOwl:hasExactSynonym "CMD1X", "cardiomyopathy, dilated, 1x", "cardiomyopathy, dilated, with mild or no proximal muscle weakness" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1969024 ; biolink:category biolink:Disease . OMIM:611616 a owl:Class ; rdfs:label "NADK" ; IAO:0000142 PMID:11594753, PMID:30846598 ; - oboInOwl:hasDbXref UMLS:C1826342 ; oboInOwl:hasExactSynonym "NADK", "nad kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65220 ; - skos:exactMatch HGNC_symbol:NADK ; + skos:exactMatch UMLS:C1826342, + HGNC:29831, + HGNC_symbol:NADK ; biolink:category biolink:Gene . OMIM:611617 a owl:Class ; rdfs:label "EFHD1" ; IAO:0000142 PMID:12270117 ; - oboInOwl:hasDbXref UMLS:C1428873 ; oboInOwl:hasExactSynonym "EFHD1", "ef-hand domain family, member d1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80303 ; - skos:exactMatch HGNC_symbol:EFHD1 ; + skos:exactMatch UMLS:C1428873, + HGNC:29556, + HGNC_symbol:EFHD1 ; biolink:category biolink:Gene . OMIM:611618 a owl:Class ; @@ -294586,41 +306399,44 @@ OMIM:611618 a owl:Class ; OMIM:611619 a owl:Class ; rdfs:label "MIR877" ; IAO:0000142 PMID:17964270 ; - oboInOwl:hasDbXref UMLS:C1969015 ; oboInOwl:hasExactSynonym "MIR877", "micro RNA 877", "mirn877", "mirna877" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126314 ; - skos:exactMatch HGNC_symbol:MIR877 ; + skos:exactMatch UMLS:C1969015, + HGNC:33660, + HGNC_symbol:MIR877 ; biolink:category biolink:Gene . OMIM:611620 a owl:Class ; rdfs:label "MIR1224" ; IAO:0000142 PMID:17964270, PMID:25043019 ; - oboInOwl:hasDbXref UMLS:C2239743 ; oboInOwl:hasExactSynonym "MIR1224", "micro RNA 1224", "mirn1224", "mirna1224" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100187716 ; - skos:exactMatch HGNC_symbol:MIR1224 ; + skos:exactMatch UMLS:C2239743, + HGNC:33923, + HGNC_symbol:MIR1224 ; biolink:category biolink:Gene . OMIM:611621 a owl:Class ; rdfs:label "MIR1225" ; IAO:0000142 PMID:17964270 ; - oboInOwl:hasDbXref UMLS:C2239744 ; oboInOwl:hasExactSynonym "MIR1225", "micro RNA 1225", "mirn1225", "mirna1225" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100188847 ; - skos:exactMatch HGNC_symbol:MIR1225 ; + skos:exactMatch UMLS:C2239744, + HGNC:33931, + HGNC_symbol:MIR1225 ; biolink:category biolink:Gene . OMIM:611622 a owl:Class ; @@ -294630,14 +306446,15 @@ OMIM:611622 a owl:Class ; PMID:18550753, PMID:25950943, PMID:25953347 ; - oboInOwl:hasDbXref UMLS:C1825616, - UMLS:C3147659 ; oboInOwl:hasExactSynonym "IQCJ", "iq motif-containing protein j", "iqcj/schip1 read-through transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:654502 ; - skos:exactMatch HGNC_symbol:IQCJ ; + skos:exactMatch UMLS:C1825616, + UMLS:C3147659, + HGNC:32406, + HGNC_symbol:IQCJ ; biolink:category biolink:Gene . OMIM:611623 a owl:Class ; @@ -294648,32 +306465,33 @@ OMIM:611623 a owl:Class ; PMID:30626896 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:615833 ; - oboInOwl:hasDbXref UMLS:C1826394, - UMLS:C4014430 ; oboInOwl:hasExactSynonym "NECAP1", "adaptin ear-binding coat-associated protein 1", "necap endocytosis-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25977 ; - skos:exactMatch HGNC_symbol:NECAP1 ; + skos:exactMatch UMLS:C1826394, + UMLS:C4014430, + HGNC:24539, + HGNC_symbol:NECAP1 ; biolink:category biolink:Gene . OMIM:611624 a owl:Class ; rdfs:label "NECAP2" ; IAO:0000142 PMID:14555962 ; - oboInOwl:hasDbXref UMLS:C1826395 ; oboInOwl:hasExactSynonym "NECAP2", "adaptin ear-binding coat-associated protein 2", "necap endocytosis-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55707 ; - skos:exactMatch HGNC_symbol:NECAP2 ; + skos:exactMatch UMLS:C1826395, + HGNC:25528, + HGNC_symbol:NECAP2 ; biolink:category biolink:Gene . OMIM:611625 a owl:Class ; rdfs:label "GID8" ; IAO:0000142 PMID:12559565 ; - oboInOwl:hasDbXref UMLS:C1423779 ; oboInOwl:hasExactSynonym "GID8", "chromosome 20 open reading frame 11", "gid complex, subunit 8", @@ -294681,7 +306499,9 @@ OMIM:611625 a owl:Class ; "two-hybrid-associated protein with ranbpm 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54994 ; - skos:exactMatch HGNC_symbol:GID8 ; + skos:exactMatch UMLS:C1423779, + HGNC:15857, + HGNC_symbol:GID8 ; biolink:category biolink:Gene . OMIM:611626 a owl:Class ; @@ -294690,28 +306510,30 @@ OMIM:611626 a owl:Class ; PMID:26022416, PMID:29211708, PMID:30487602 ; - oboInOwl:hasDbXref UMLS:C1969012 ; oboInOwl:hasExactSynonym "MPHOSPH8", "m-phase phosphoprotein 8", "mpp8", "two-hybrid-associated protein with ranbpm 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54737 ; - skos:exactMatch HGNC_symbol:MPHOSPH8 ; + skos:exactMatch UMLS:C1969012, + HGNC:29810, + HGNC_symbol:MPHOSPH8 ; biolink:category biolink:Gene . OMIM:611627 a owl:Class ; rdfs:label "TLCD3A" ; IAO:0000142 PMID:12270127, PMID:16143812 ; - oboInOwl:hasDbXref UMLS:C1539463 ; oboInOwl:hasExactSynonym "TLCD3A", "ct120", "family with sequence similarity 57, member a", "tlc domain-containing protein 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79850 ; - skos:exactMatch HGNC_symbol:TLCD3A ; + skos:exactMatch UMLS:C1539463, + HGNC:29646, + HGNC_symbol:TLCD3A ; biolink:category biolink:Gene . OMIM:611628 a owl:Class ; @@ -294719,14 +306541,15 @@ OMIM:611628 a owl:Class ; IAO:0000142 PMID:10574461, PMID:12062803, PMID:12079279 ; - oboInOwl:hasDbXref UMLS:C1423890 ; oboInOwl:hasExactSynonym "NAV1", "kiaa1151", "neuron navigator 1", "pore membrane- and/or filament-interacting-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89796 ; - skos:exactMatch HGNC_symbol:NAV1 ; + skos:exactMatch UMLS:C1423890, + HGNC:15989, + HGNC_symbol:NAV1 ; biolink:category biolink:Gene . OMIM:611629 a owl:Class ; @@ -294734,14 +306557,15 @@ OMIM:611629 a owl:Class ; IAO:0000142 PMID:10231032, PMID:12062803, PMID:12079279 ; - oboInOwl:hasDbXref UMLS:C1423898 ; oboInOwl:hasExactSynonym "NAV3", "kiaa0938", "neuron navigator 3", "pore membrane- and/or filament-interacting-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89795 ; - skos:exactMatch HGNC_symbol:NAV3 ; + skos:exactMatch UMLS:C1423898, + HGNC:15998, + HGNC_symbol:NAV3 ; biolink:category biolink:Gene . OMIM:611632 a owl:Class ; @@ -294760,26 +306584,28 @@ OMIM:611632 a owl:Class ; PMID:9450854 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:121800 ; - oboInOwl:hasDbXref UMLS:C1823578 ; oboInOwl:hasExactSynonym "UBIAD1", "transitional epithelial response protein 1", "ubia prenyltransferase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29914 ; - skos:exactMatch HGNC_symbol:UBIAD1 ; + skos:exactMatch UMLS:C1823578, + HGNC:30791, + HGNC_symbol:UBIAD1 ; biolink:category biolink:Gene . OMIM:611633 a owl:Class ; rdfs:label "RTF1" ; IAO:0000142 PMID:17576814, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1826949 ; oboInOwl:hasExactSynonym "RTF1", "kiaa0252", "rtf1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23168 ; - skos:exactMatch HGNC_symbol:RTF1 ; + skos:exactMatch UMLS:C1826949, + HGNC:28996, + HGNC_symbol:RTF1 ; biolink:category biolink:Gene . OMIM:611635 a owl:Class ; @@ -294787,70 +306613,75 @@ OMIM:611635 a owl:Class ; IAO:0000142 PMID:11078465, PMID:12797958, PMID:9497361 ; - oboInOwl:hasDbXref UMLS:C1422201 ; oboInOwl:hasExactSynonym "NEUROD4", "math3", "neurogenic differentiation 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58158 ; - skos:exactMatch HGNC_symbol:NEUROD4 ; + skos:exactMatch UMLS:C1422201, + HGNC:13802, + HGNC_symbol:NEUROD4 ; biolink:category biolink:Gene . OMIM:611636 a owl:Class ; rdfs:label "NAALAD2" ; IAO:0000142 PMID:10085079 ; - oboInOwl:hasDbXref UMLS:C1422727 ; oboInOwl:hasExactSynonym "NAALAD2", "n-acetylated alpha-linked acidic dipeptidase 2", "naaladase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10003 ; - skos:exactMatch HGNC_symbol:NAALAD2 ; + skos:exactMatch UMLS:C1422727, + HGNC:14526, + HGNC_symbol:NAALAD2 ; biolink:category biolink:Gene . OMIM:611638 a owl:Class ; rdfs:label "microphthalmia, isolated, with coloboma 5" ; IAO:0000142 PMID:10556296, PMID:12503095 ; - oboInOwl:hasDbXref UMLS:C1968843 ; oboInOwl:hasExactSynonym "MCOPCB5", "microphthalmia, isolated, with coloboma 5" ; rdfs:subClassOf OMIMPS:300345 ; + skos:exactMatch UMLS:C1968843 ; biolink:category biolink:Disease . OMIM:611639 a owl:Class ; rdfs:label "ZGLP1" ; IAO:0000142 PMID:16982049, PMID:32054698 ; - oboInOwl:hasDbXref UMLS:C1999257 ; oboInOwl:hasExactSynonym "ZGLP1", "gata-like protein 1", "zinc finger gata-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100125288 ; - skos:exactMatch HGNC_symbol:ZGLP1 ; + skos:exactMatch UMLS:C1999257, + HGNC:37245, + HGNC_symbol:ZGLP1 ; biolink:category biolink:Gene . OMIM:611640 a owl:Class ; rdfs:label "FANK1" ; IAO:0000142 PMID:17604233 ; - oboInOwl:hasDbXref UMLS:C1428124 ; oboInOwl:hasExactSynonym "FANK1", "fibronectin iia 3 and ankyrin repeat domains 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92565 ; - skos:exactMatch HGNC_symbol:FANK1 ; + skos:exactMatch UMLS:C1428124, + HGNC:23527, + HGNC_symbol:FANK1 ; biolink:category biolink:Gene . OMIM:611641 a owl:Class ; rdfs:label "HEPN1" ; IAO:0000142 PMID:12971969 ; - oboInOwl:hasDbXref UMLS:C1968842 ; oboInOwl:hasExactSynonym "HEPN1", "cancer susceptibility gene hepn1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641654 ; - skos:exactMatch HGNC_symbol:HEPN1 ; + skos:exactMatch UMLS:C1968842, + HGNC:34400, + HGNC_symbol:HEPN1 ; biolink:category biolink:Gene . OMIM:611642 a owl:Class ; @@ -294865,47 +306696,49 @@ OMIM:611642 a owl:Class ; PMID:24824219 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:613926 ; - oboInOwl:hasDbXref UMLS:C1968841 ; oboInOwl:hasExactSynonym "HEPACAM", "glial cell adhesion molecule", "hepatocyte and glial cell adhesion molecule", "hepatocyte cell adhesion molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220296 ; - skos:exactMatch HGNC_symbol:HEPACAM ; + skos:exactMatch UMLS:C1968841, + HGNC:26361, + HGNC_symbol:HEPACAM ; biolink:category biolink:Gene . OMIM:611643 a owl:Class ; rdfs:label "ZKSCAN4" ; IAO:0000142 PMID:17910948 ; - oboInOwl:hasDbXref UMLS:C1422237 ; oboInOwl:hasExactSynonym "ZKSCAN4", "zinc finger protein 307", "zinc finger protein with krab and scan domains 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387032 ; - skos:exactMatch HGNC_symbol:ZKSCAN4 ; + skos:exactMatch UMLS:C1422237, + HGNC:13854, + HGNC_symbol:ZKSCAN4 ; biolink:category biolink:Gene . OMIM:611645 a owl:Class ; rdfs:label "CXXC4" ; IAO:0000142 PMID:11113207, PMID:23563267 ; - oboInOwl:hasDbXref UMLS:C1428392 ; oboInOwl:hasExactSynonym "CXXC4", "cxxc finger protein 4", "dvl1-binding protein", "inhibitor of dvl/axin complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80319 ; - skos:exactMatch HGNC_symbol:CXXC4 ; + skos:exactMatch UMLS:C1428392, + HGNC:24593, + HGNC_symbol:CXXC4 ; biolink:category biolink:Gene . OMIM:611646 a owl:Class ; rdfs:label "SPHKAP" ; IAO:0000142 PMID:11214970, PMID:12080051 ; - oboInOwl:hasDbXref UMLS:C1968839 ; oboInOwl:hasExactSynonym "SPHKAP", "kiaa1678", "skip", @@ -294913,7 +306746,9 @@ OMIM:611646 a owl:Class ; "sphk1-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80309 ; - skos:exactMatch HGNC_symbol:SPHKAP ; + skos:exactMatch UMLS:C1968839, + HGNC:30619, + HGNC_symbol:SPHKAP ; biolink:category biolink:Gene . OMIM:611647 a owl:Class ; @@ -294926,14 +306761,15 @@ OMIM:611647 a owl:Class ; PMID:32165008 ; RO:0002525 CHR:9606chr1q42.2 ; RO:0003303 OMIM:617020 ; - oboInOwl:hasDbXref UMLS:C1540200, - UMLS:C4310762 ; oboInOwl:hasExactSynonym "ARV1", "arv1 homolog, fatty acid homeostasis modulator", "arv1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64801 ; - skos:exactMatch HGNC_symbol:ARV1 ; + skos:exactMatch UMLS:C1540200, + UMLS:C4310762, + HGNC:29561, + HGNC_symbol:ARV1 ; biolink:category biolink:Gene . OMIM:611648 a owl:Class ; @@ -294946,7 +306782,6 @@ OMIM:611648 a owl:Class ; PMID:9455477 ; RO:0002525 CHR:9606chr5q21.1 ; RO:0003303 OMIM:618422 ; - oboInOwl:hasDbXref UMLS:C1825476 ; oboInOwl:hasExactSynonym "PPIP5K2", "diphosphoinositol pentakisphosphate kinase 2", "histidine acid phosphatase domain-containing protein 1", @@ -294954,14 +306789,15 @@ OMIM:611648 a owl:Class ; "vip2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23262 ; - skos:exactMatch HGNC_symbol:PPIP5K2 ; + skos:exactMatch UMLS:C1825476, + HGNC:29035, + HGNC_symbol:PPIP5K2 ; biolink:category biolink:Gene . OMIM:611649 a owl:Class ; rdfs:label "MINDY3" ; IAO:0000142 PMID:12054670, PMID:21499297 ; - oboInOwl:hasDbXref UMLS:C1538397 ; oboInOwl:hasExactSynonym "MINDY3", "card-containing protein", "chromosome 10 open reading frame 97", @@ -294969,18 +306805,20 @@ OMIM:611649 a owl:Class ; "mindy lysine-48 deubiquitinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80013 ; - skos:exactMatch HGNC_symbol:MINDY3 ; + skos:exactMatch UMLS:C1538397, + HGNC:23578, + HGNC_symbol:MINDY3 ; biolink:category biolink:Gene . OMIM:611650 a owl:Class ; rdfs:label "peripapillary atrophy, beta iia" ; IAO:0000142 PMID:17525180, PMID:2722447 ; - oboInOwl:hasDbXref UMLS:C1968838 ; oboInOwl:hasExactSynonym "PPAB", "beta-ppa", "peripapillary atrophy, beta iia", - "peripapillary chorioretinal atrophy, beta iia" . + "peripapillary chorioretinal atrophy, beta iia" ; + skos:exactMatch UMLS:C1968838 . OMIM:611651 a owl:Class ; rdfs:label "PLA2G3" ; @@ -294988,7 +306826,6 @@ OMIM:611651 a owl:Class ; PMID:12522102, PMID:15863501, PMID:20393563 ; - oboInOwl:hasDbXref UMLS:C1425188 ; oboInOwl:hasExactSynonym "PLA2G3", "giii-spla2", "phospholipase a2, group 3", @@ -294996,7 +306833,9 @@ OMIM:611651 a owl:Class ; "spla2-iii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50487 ; - skos:exactMatch HGNC_symbol:PLA2G3 ; + skos:exactMatch UMLS:C1425188, + HGNC:17934, + HGNC_symbol:PLA2G3 ; biolink:category biolink:Gene . OMIM:611652 a owl:Class ; @@ -295005,7 +306844,6 @@ OMIM:611652 a owl:Class ; PMID:11278438, PMID:12522102, PMID:15831466 ; - oboInOwl:hasDbXref UMLS:C1425595 ; oboInOwl:hasExactSynonym "PLA2G12A", "gxii", "phospholipase a2, group 12a", @@ -295014,13 +306852,14 @@ OMIM:611652 a owl:Class ; "spla2-gxii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81579 ; - skos:exactMatch HGNC_symbol:PLA2G12A ; + skos:exactMatch UMLS:C1425595, + HGNC:18554, + HGNC_symbol:PLA2G12A ; biolink:category biolink:Gene . OMIM:611653 a owl:Class ; rdfs:label "PLA2G12B" ; IAO:0000142 PMID:14516201 ; - oboInOwl:hasDbXref UMLS:C1425596 ; oboInOwl:hasExactSynonym "PLA2G12B", "gxiib", "phospholipase a2, group 12b", @@ -295028,7 +306867,9 @@ OMIM:611653 a owl:Class ; "spla2-gxiib" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84647 ; - skos:exactMatch HGNC_symbol:PLA2G12B ; + skos:exactMatch UMLS:C1425596, + HGNC:18555, + HGNC_symbol:PLA2G12B ; biolink:category biolink:Gene . OMIM:611654 a owl:Class ; @@ -295040,7 +306881,6 @@ OMIM:611654 a owl:Class ; PMID:24360808 ; RO:0002525 CHR:9606chr8q13.1-q13.2 ; RO:0003303 OMIM:615636 ; - oboInOwl:hasDbXref UMLS:C1824808 ; oboInOwl:hasExactSynonym "CSPP1", "centrosome spindle pole-associated protein 1", "cspp", @@ -295048,7 +306888,9 @@ OMIM:611654 a owl:Class ; "cspp1-s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79848 ; - skos:exactMatch HGNC_symbol:CSPP1 ; + skos:exactMatch UMLS:C1824808, + HGNC:26193, + HGNC_symbol:CSPP1 ; biolink:category biolink:Gene . OMIM:611655 a owl:Class ; @@ -295062,80 +306904,85 @@ OMIM:611655 a owl:Class ; PMID:26050939 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:615802 ; - oboInOwl:hasDbXref UMLS:C1968837 ; oboInOwl:hasExactSynonym "PGAP1", "gpi deacylase", "post-gpi attachment to proteins 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80055 ; - skos:exactMatch HGNC_symbol:PGAP1 ; + skos:exactMatch UMLS:C1968837, + HGNC:25712, + HGNC_symbol:PGAP1 ; biolink:category biolink:Gene . OMIM:611656 a owl:Class ; rdfs:label "SIKE1" ; IAO:0000142 PMID:16281057 ; - oboInOwl:hasDbXref UMLS:C1968836 ; oboInOwl:hasExactSynonym "SIKE1", "suppressor of ikbke 1", "suppressor of ikk-epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80143 ; - skos:exactMatch HGNC_symbol:SIKE1 ; + skos:exactMatch UMLS:C1968836, + HGNC:26119, + HGNC_symbol:SIKE1 ; biolink:category biolink:Gene . OMIM:611657 a owl:Class ; rdfs:label "SPSB1" ; IAO:0000142 PMID:15713673 ; - oboInOwl:hasDbXref UMLS:C1823117 ; oboInOwl:hasExactSynonym "SPSB1", "spry domain- and socs box-containing 1", "spry domain-containing socs box protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80176 ; - skos:exactMatch HGNC_symbol:SPSB1 ; + skos:exactMatch UMLS:C1823117, + HGNC:30628, + HGNC_symbol:SPSB1 ; biolink:category biolink:Gene . OMIM:611658 a owl:Class ; rdfs:label "SPSB2" ; IAO:0000142 PMID:15713673 ; - oboInOwl:hasDbXref UMLS:C1823118 ; oboInOwl:hasExactSynonym "SPSB2", "spry domain- and socs box-containing 2", "spry domain-containing socs box protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84727 ; - skos:exactMatch HGNC_symbol:SPSB2 ; + skos:exactMatch UMLS:C1823118, + HGNC:29522, + HGNC_symbol:SPSB2 ; biolink:category biolink:Gene . OMIM:611659 a owl:Class ; rdfs:label "SPSB3" ; IAO:0000142 PMID:15713673 ; - oboInOwl:hasDbXref UMLS:C1823119 ; oboInOwl:hasExactSynonym "SPSB3", "spry domain- and socs box-containing 3", "spry domain-containing socs box protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90864 ; - skos:exactMatch HGNC_symbol:SPSB3 ; + skos:exactMatch UMLS:C1823119, + HGNC:30629, + HGNC_symbol:SPSB3 ; biolink:category biolink:Gene . OMIM:611660 a owl:Class ; rdfs:label "SPSB4" ; IAO:0000142 PMID:15713673 ; - oboInOwl:hasDbXref UMLS:C1823120 ; oboInOwl:hasExactSynonym "SPSB4", "spry domain- and socs box-containing 4", "spry domain-containing socs box protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92369 ; - skos:exactMatch HGNC_symbol:SPSB4 ; + skos:exactMatch UMLS:C1823120, + HGNC:30630, + HGNC_symbol:SPSB4 ; biolink:category biolink:Gene . OMIM:611661 a owl:Class ; rdfs:label "DBF4B" ; IAO:0000142 PMID:12065429, PMID:15668232 ; - oboInOwl:hasDbXref UMLS:C1824886 ; oboInOwl:hasExactSynonym "DBF4B", "ask-like 1", "dbf4 zinc finger B", @@ -295143,51 +306990,55 @@ OMIM:611661 a owl:Class ; "dbf4-related factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80174 ; - skos:exactMatch HGNC_symbol:DBF4B ; + skos:exactMatch UMLS:C1824886, + HGNC:17883, + HGNC_symbol:DBF4B ; biolink:category biolink:Gene . OMIM:611662 a owl:Class ; rdfs:label "EGOT" ; IAO:0000142 PMID:17351112 ; - oboInOwl:hasDbXref UMLS:C1968835 ; oboInOwl:hasExactSynonym "EGOT", "eosinophil granule ontogeny", "eosinophil granule ontogeny transcript, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126791 ; - skos:exactMatch HGNC_symbol:EGOT ; + skos:exactMatch UMLS:C1968835, + HGNC:37129, + HGNC_symbol:EGOT ; biolink:category biolink:Gene . OMIM:611665 a owl:Class ; rdfs:label "DDX54" ; IAO:0000142 PMID:12466272, PMID:31256877 ; - oboInOwl:hasDbXref UMLS:C1426670 ; oboInOwl:hasExactSynonym "DDX54", "dead box RNA helicase, 97-kd", "dead-box helicase 54", "dead/h-box 54" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79039 ; - skos:exactMatch HGNC_symbol:DDX54 ; + skos:exactMatch UMLS:C1426670, + HGNC:20084, + HGNC_symbol:DDX54 ; biolink:category biolink:Gene . OMIM:611666 a owl:Class ; rdfs:label "PLPP6" ; IAO:0000142 PMID:16464866 ; - oboInOwl:hasDbXref UMLS:C1826650 ; oboInOwl:hasExactSynonym "PLPP6", "phospholipid phosphatase 6", "ppap2 domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:403313 ; - skos:exactMatch HGNC_symbol:PLPP6 ; + skos:exactMatch UMLS:C1826650, + HGNC:23682, + HGNC_symbol:PLPP6 ; biolink:category biolink:Gene . OMIM:611667 a owl:Class ; rdfs:label "SPATS2" ; IAO:0000142 PMID:11944913 ; - oboInOwl:hasDbXref UMLS:C1425677 ; oboInOwl:hasExactSynonym "SPATS2", "scr59", "serine-rich spermatocytes and round spermatid protein, 59-kd", @@ -295195,21 +307046,24 @@ OMIM:611667 a owl:Class ; "spermatogenesis-associated serine-rich protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65244 ; - skos:exactMatch HGNC_symbol:SPATS2 ; + skos:exactMatch UMLS:C1425677, + HGNC:18650, + HGNC_symbol:SPATS2 ; biolink:category biolink:Gene . OMIM:611668 a owl:Class ; rdfs:label "CORO7" ; IAO:0000142 PMID:15327992, PMID:16905771 ; - oboInOwl:hasDbXref UMLS:C1539127 ; oboInOwl:hasExactSynonym "CORO7", "coronin 7", "crn7", "polarity-osmotic defective 1, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79585 ; - skos:exactMatch HGNC_symbol:CORO7 ; + skos:exactMatch UMLS:C1539127, + HGNC:26161, + HGNC_symbol:CORO7 ; biolink:category biolink:Gene . OMIM:611669 a owl:Class ; @@ -295220,7 +307074,6 @@ OMIM:611669 a owl:Class ; PMID:30289604 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:618302 ; - oboInOwl:hasDbXref UMLS:C1428492 ; oboInOwl:hasExactSynonym "TRMT1", "n2,n2-dimethylguanosine-26 trna methyltransferase", "trm1", @@ -295229,33 +307082,37 @@ OMIM:611669 a owl:Class ; "trna(m(2,2)g26)dimethyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55621 ; - skos:exactMatch HGNC_symbol:TRMT1 ; + skos:exactMatch UMLS:C1428492, + HGNC:25980, + HGNC_symbol:TRMT1 ; biolink:category biolink:Gene . OMIM:611670 a owl:Class ; rdfs:label "ISYNA1" ; IAO:0000142 PMID:12941308, PMID:15464731 ; - oboInOwl:hasDbXref UMLS:C1968833 ; oboInOwl:hasExactSynonym "ISYNA1", "inositol-3-phosphate synthase 1", "ips", "myoinositol 1-phosphate synthase a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51477 ; - skos:exactMatch HGNC_symbol:ISYNA1 ; + skos:exactMatch UMLS:C1968833, + HGNC:29821, + HGNC_symbol:ISYNA1 ; biolink:category biolink:Gene . OMIM:611671 a owl:Class ; rdfs:label "PIGZ" ; IAO:0000142 PMID:15208306 ; - oboInOwl:hasDbXref UMLS:C1826588 ; oboInOwl:hasExactSynonym "PIGZ", "phosphatidylinositol glycan anchor biosynthesis class z protein", "smp3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80235 ; - skos:exactMatch HGNC_symbol:PIGZ ; + skos:exactMatch UMLS:C1826588, + HGNC:30596, + HGNC_symbol:PIGZ ; biolink:category biolink:Gene . OMIM:611672 a owl:Class ; @@ -295274,40 +307131,43 @@ OMIM:611672 a owl:Class ; PMID:3987728 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:229050 ; - oboInOwl:hasDbXref UMLS:C1968832 ; oboInOwl:hasExactSynonym "SLC46A1", "heme carrier protein 1", "proton-coupled folate transporter", "solute carrier family 46 (folate transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113235 ; - skos:exactMatch HGNC_symbol:SLC46A1 ; + skos:exactMatch UMLS:C1968832, + HGNC:30521, + HGNC_symbol:SLC46A1 ; biolink:category biolink:Gene . OMIM:611673 a owl:Class ; rdfs:label "TRMT1L" ; IAO:0000142 PMID:17198746 ; - oboInOwl:hasDbXref UMLS:C1424541 ; oboInOwl:hasExactSynonym "TRMT1L", "chromosome 1 open reading frame 25", "trm1-like", "trna methyltransferase 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81627 ; - skos:exactMatch HGNC_symbol:TRMT1L ; + skos:exactMatch UMLS:C1424541, + HGNC:16782, + HGNC_symbol:TRMT1L ; biolink:category biolink:Gene . OMIM:611674 a owl:Class ; rdfs:label "XKR3" ; IAO:0000142 PMID:16431037 ; - oboInOwl:hasDbXref UMLS:C1823870 ; oboInOwl:hasExactSynonym "XKR3", "x kell blood group precursor-related family, member 3", "xrg3", "xtes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150165 ; - skos:exactMatch HGNC_symbol:XKR3 ; + skos:exactMatch UMLS:C1823870, + HGNC:28778, + HGNC_symbol:XKR3 ; biolink:category biolink:Gene . OMIM:611675 a owl:Class ; @@ -295315,73 +307175,79 @@ OMIM:611675 a owl:Class ; IAO:0000142 PMID:15511631, PMID:17010949, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1537449 ; oboInOwl:hasExactSynonym "KIAA0513", "kiaa0513 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9764 ; - skos:exactMatch HGNC_symbol:KIAA0513 ; + skos:exactMatch UMLS:C1537449, + HGNC:29058, + HGNC_symbol:KIAA0513 ; biolink:category biolink:Gene . OMIM:611676 a owl:Class ; rdfs:label "PDCL2" ; IAO:0000142 PMID:12424248, PMID:19193988 ; - oboInOwl:hasDbXref UMLS:C1428867 ; oboInOwl:hasExactSynonym "PDCL2", "phosducin-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132954 ; - skos:exactMatch HGNC_symbol:PDCL2 ; + skos:exactMatch UMLS:C1428867, + HGNC:29524, + HGNC_symbol:PDCL2 ; biolink:category biolink:Gene . OMIM:611677 a owl:Class ; rdfs:label "OR13G1" ; IAO:0000142 PMID:16175505 ; - oboInOwl:hasDbXref UMLS:C1423125 ; oboInOwl:hasExactSynonym "OR13G1", "olfactory receptor, family 13, subfamily g, member 1", "or1-37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441933 ; - skos:exactMatch HGNC_symbol:OR13G1 ; + skos:exactMatch UMLS:C1423125, + HGNC:14999, + HGNC_symbol:OR13G1 ; biolink:category biolink:Gene . OMIM:611678 a owl:Class ; rdfs:label "PDCL3" ; IAO:0000142 PMID:15371430, PMID:17429077 ; - oboInOwl:hasDbXref UMLS:C1428747 ; oboInOwl:hasExactSynonym "PDCL3", "phlp2a", "phosducin-like 3", "viral iap-associated factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79031 ; - skos:exactMatch HGNC_symbol:PDCL3 ; + skos:exactMatch UMLS:C1428747, + HGNC:28860, + HGNC_symbol:PDCL3 ; biolink:category biolink:Gene . OMIM:611679 a owl:Class ; rdfs:label "FBXW10" ; IAO:0000142 PMID:15520277 ; - oboInOwl:hasDbXref UMLS:C1539503 ; oboInOwl:hasExactSynonym "FBXW10", "f-box and wd40 domain protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10517 ; - skos:exactMatch HGNC_symbol:FBXW10 ; + skos:exactMatch UMLS:C1539503, + HGNC:1211, + HGNC_symbol:FBXW10 ; biolink:category biolink:Gene . OMIM:611680 a owl:Class ; rdfs:label "C1ORF116" ; IAO:0000142 PMID:15525603 ; - oboInOwl:hasDbXref UMLS:C1823736 ; oboInOwl:hasExactSynonym "C1ORF116", "chromosome 1 open reading frame 116", "specifically androgen-regulated gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79098 ; - skos:exactMatch HGNC_symbol:C1orf116 ; + skos:exactMatch UMLS:C1823736, + HGNC:28667, + HGNC_symbol:C1orf116 ; biolink:category biolink:Gene . OMIM:611681 a owl:Class ; @@ -295389,18 +307255,18 @@ OMIM:611681 a owl:Class ; IAO:0000142 PMID:12514189, PMID:12562771, PMID:30814516 ; - oboInOwl:hasDbXref UMLS:C1424800 ; oboInOwl:hasExactSynonym "ADAMTS20", "a disintegrin-like and metalloproteinase with thrombospondin iia 1 motif, 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80070 ; - skos:exactMatch HGNC_symbol:ADAMTS20 ; + skos:exactMatch UMLS:C1424800, + HGNC:17178, + HGNC_symbol:ADAMTS20 ; biolink:category biolink:Gene . OMIM:611682 a owl:Class ; rdfs:label "LPAL2" ; IAO:0000142 PMID:7749817 ; - oboInOwl:hasDbXref UMLS:C1427417 ; oboInOwl:hasExactSynonym "LPAL2", "apolipoprotein(a)-related gene c", "lipoprotein(a)-like 2", @@ -295408,7 +307274,9 @@ OMIM:611682 a owl:Class ; "lpa-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80350 ; - skos:exactMatch HGNC_symbol:LPAL2 ; + skos:exactMatch UMLS:C1427417, + HGNC:21210, + HGNC_symbol:LPAL2 ; biolink:category biolink:Gene . OMIM:611683 a owl:Class ; @@ -295417,12 +307285,13 @@ OMIM:611683 a owl:Class ; PMID:15137908, PMID:15381090, PMID:17686456 ; - oboInOwl:hasDbXref UMLS:C1968831 ; oboInOwl:hasExactSynonym "fn3k-related protein", "fructosamine 3-kinase-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79672 ; - skos:exactMatch HGNC_symbol:FN3KRP ; + skos:exactMatch UMLS:C1968831, + HGNC:25700, + HGNC_symbol:FN3KRP ; biolink:category biolink:Gene . OMIM:611684 a owl:Class ; @@ -295436,8 +307305,6 @@ OMIM:611684 a owl:Class ; PMID:17392836, PMID:31956895, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1424600, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "SART3", "kiaa0156", "p110", @@ -295446,7 +307313,10 @@ OMIM:611684 a owl:Class ; "tat-interacting protein, 110-kd: tip110" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9733 ; - skos:exactMatch HGNC_symbol:SART3 ; + skos:exactMatch UMLS:C1424600, + UMLS:C4015968, + HGNC:16860, + HGNC_symbol:SART3 ; biolink:category biolink:Gene . OMIM:611685 a owl:Class ; @@ -295461,26 +307331,28 @@ OMIM:611685 a owl:Class ; PMID:26503038, PMID:9734811, PMID:9852682 ; - oboInOwl:hasDbXref UMLS:C1419429 ; oboInOwl:hasExactSynonym "RNF8", "kiaa0646", "ring finger protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9025 ; - skos:exactMatch HGNC_symbol:RNF8 ; + skos:exactMatch UMLS:C1419429, + HGNC:10071, + HGNC_symbol:RNF8 ; biolink:category biolink:Gene . OMIM:611686 a owl:Class ; rdfs:label "CASD1" ; IAO:0000142 PMID:11528394, PMID:11703667 ; - oboInOwl:hasDbXref UMLS:C1824530 ; oboInOwl:hasExactSynonym "CASD1", "cas1 domain-containing protein 1", "chromosome 7 open reading frame 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64921 ; - skos:exactMatch HGNC_symbol:CASD1 ; + skos:exactMatch UMLS:C1824530, + HGNC:16014, + HGNC_symbol:CASD1 ; biolink:category biolink:Gene . OMIM:611687 a owl:Class ; @@ -295497,25 +307369,27 @@ OMIM:611687 a owl:Class ; PMID:25542835 ; RO:0002525 CHR:9606chr6q13 ; RO:0003303 OMIM:614293 ; - oboInOwl:hasDbXref UMLS:C1968829 ; oboInOwl:hasExactSynonym "KHDC3L", "chromosome 6 open reading frame 221", "embryonic stem cell-associated transcript 1", "khdc3-like protein, subcortical maternal complex member" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154288 ; - skos:exactMatch HGNC_symbol:KHDC3L ; + skos:exactMatch UMLS:C1968829, + HGNC:33699, + HGNC_symbol:KHDC3L ; biolink:category biolink:Gene . OMIM:611688 a owl:Class ; rdfs:label "KHDC1" ; IAO:0000142 PMID:17913455 ; - oboInOwl:hasDbXref UMLS:C1427514 ; oboInOwl:hasExactSynonym "KHDC1", "kh domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80759 ; - skos:exactMatch HGNC_symbol:KHDC1 ; + skos:exactMatch UMLS:C1427514, + HGNC:21366, + HGNC_symbol:KHDC1 ; biolink:category biolink:Gene . OMIM:611689 a owl:Class ; @@ -295523,7 +307397,6 @@ OMIM:611689 a owl:Class ; IAO:0000142 PMID:17913455, PMID:18804437, PMID:25542835 ; - oboInOwl:hasDbXref UMLS:C1968827 ; oboInOwl:hasExactSynonym "OOEP", "floped, mouse, homolog of", "kh domain-containing protein 2", @@ -295531,21 +307404,24 @@ OMIM:611689 a owl:Class ; "oocyte-expressed protein, dog, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441161 ; - skos:exactMatch HGNC_symbol:OOEP ; + skos:exactMatch UMLS:C1968827, + HGNC:21382, + HGNC_symbol:OOEP ; biolink:category biolink:Gene . OMIM:611690 a owl:Class ; rdfs:label "PRRG4" ; IAO:0000142 PMID:10568747, PMID:11171957 ; - oboInOwl:hasDbXref UMLS:C1538726 ; oboInOwl:hasExactSynonym "PRRG4", "proline-rich gamma-carboxyglutamic acid protein 4", "proline-rich gla protein 4", "transmembrane gamma-carboxyglutamic acid protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79056 ; - skos:exactMatch HGNC_symbol:PRRG4 ; + skos:exactMatch UMLS:C1538726, + HGNC:30799, + HGNC_symbol:PRRG4 ; biolink:category biolink:Gene . OMIM:611691 a owl:Class ; @@ -295554,27 +307430,29 @@ OMIM:611691 a owl:Class ; PMID:16206243, PMID:20236627, PMID:27626380 ; - oboInOwl:hasDbXref UMLS:C1539903 ; oboInOwl:hasExactSynonym "SVEP1", "polydom", "selectin-like osteoblast-derived protein", "sushi, von willebrand factor iia a, egf, and pentraxin domains-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79987 ; - skos:exactMatch HGNC_symbol:SVEP1 ; + skos:exactMatch UMLS:C1539903, + HGNC:15985, + HGNC_symbol:SVEP1 ; biolink:category biolink:Gene . OMIM:611692 a owl:Class ; rdfs:label "ZBTB34" ; IAO:0000142 PMID:12056414, PMID:16718364 ; - oboInOwl:hasDbXref UMLS:C1538154 ; oboInOwl:hasExactSynonym "ZBTB34", "kiaa1993", "zinc finger- and btb domain-containing protein 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:403341 ; - skos:exactMatch HGNC_symbol:ZBTB34 ; + skos:exactMatch UMLS:C1538154, + HGNC:31446, + HGNC_symbol:ZBTB34 ; biolink:category biolink:Gene . OMIM:611693 a owl:Class ; @@ -295587,7 +307465,6 @@ OMIM:611693 a owl:Class ; PMID:23460781 ; RO:0002525 CHR:9606chr11q24.1 ; RO:0003303 OMIM:615237 ; - oboInOwl:hasDbXref UMLS:C1968826 ; oboInOwl:hasExactSynonym "CLMP", "adipocyte adhesion molecule", "adipocyte-specific adhesion molecule", @@ -295595,16 +307472,18 @@ OMIM:611693 a owl:Class ; "cxadr-like membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79827 ; - skos:exactMatch HGNC_symbol:CLMP ; + skos:exactMatch UMLS:C1968826, + HGNC:24039, + HGNC_symbol:CLMP ; biolink:category biolink:Gene . OMIM:611694 a owl:Class ; rdfs:label "dystonia with cerebellar atrophy" ; IAO:0000142 PMID:17130408, PMID:26408497 ; - oboInOwl:hasDbXref UMLS:C2673697 ; oboInOwl:hasExactSynonym "DYTCA", "dystonia with cerebellar atrophy" ; + skos:exactMatch UMLS:C2673697 ; biolink:category biolink:Disease . OMIM:611695 a owl:Class ; @@ -295615,175 +307494,188 @@ OMIM:611695 a owl:Class ; PMID:23141541 ; RO:0002525 CHR:9606chr15q15.2 ; RO:0003303 OMIM:604432 ; - oboInOwl:hasDbXref UMLS:C1426038 ; oboInOwl:hasExactSynonym "TTBK2", "tau tubulin kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146057 ; - skos:exactMatch HGNC_symbol:TTBK2 ; + skos:exactMatch UMLS:C1426038, + HGNC:19141, + HGNC_symbol:TTBK2 ; biolink:category biolink:Gene . OMIM:611696 a owl:Class ; rdfs:label "SLC22A20" ; IAO:0000142 PMID:17714910 ; - oboInOwl:hasDbXref UMLS:C1968823 ; oboInOwl:hasExactSynonym "SLC22A20", "organic anion transporter 6", "solute carrier family 22, member 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440044 ; - skos:exactMatch HGNC_symbol:SLC22A20P ; + skos:exactMatch UMLS:C1968823, + HGNC:29867, + HGNC_symbol:SLC22A20P ; biolink:category biolink:Gene . OMIM:611697 a owl:Class ; rdfs:label "SLC22A23" ; IAO:0000142 PMID:17714910 ; - oboInOwl:hasDbXref UMLS:C1427322 ; oboInOwl:hasExactSynonym "SLC22A23", "chromosome 6 open reading frame 85", "solute carrier family 22, member 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63027 ; - skos:exactMatch HGNC_symbol:SLC22A23 ; + skos:exactMatch UMLS:C1427322, + HGNC:21106, + HGNC_symbol:SLC22A23 ; biolink:category biolink:Gene . OMIM:611698 a owl:Class ; rdfs:label "SLC22A24" ; IAO:0000142 PMID:17714910 ; - oboInOwl:hasDbXref UMLS:C1968822 ; oboInOwl:hasExactSynonym "SLC22A24", "solute carrier family 22, member 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283238 ; - skos:exactMatch HGNC_symbol:SLC22A24 ; + skos:exactMatch UMLS:C1968822, + HGNC:28542, + HGNC_symbol:SLC22A24 ; biolink:category biolink:Gene . OMIM:611699 a owl:Class ; rdfs:label "SVOP" ; IAO:0000142 PMID:17714910, PMID:9801366 ; - oboInOwl:hasDbXref UMLS:C1823156 ; oboInOwl:hasExactSynonym "SVOP", "sv2-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55530 ; - skos:exactMatch HGNC_symbol:SVOP ; + skos:exactMatch UMLS:C1823156, + HGNC:25417, + HGNC_symbol:SVOP ; biolink:category biolink:Gene . OMIM:611700 a owl:Class ; rdfs:label "SVOPL" ; IAO:0000142 PMID:17714910 ; - oboInOwl:hasDbXref UMLS:C1968821 ; oboInOwl:hasExactSynonym "SVOPL", "sv2-related protein-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136306 ; - skos:exactMatch HGNC_symbol:SVOPL ; + skos:exactMatch UMLS:C1968821, + HGNC:27034, + HGNC_symbol:SVOPL ; biolink:category biolink:Gene . OMIM:611701 a owl:Class ; rdfs:label "SPNS3" ; IAO:0000142 PMID:17714910 ; - oboInOwl:hasDbXref UMLS:C1968820 ; oboInOwl:hasExactSynonym "SPNS3", "sphingolipid transporter 3", "spinster, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201305 ; - skos:exactMatch HGNC_symbol:SPNS3 ; + skos:exactMatch UMLS:C1968820, + HGNC:28433, + HGNC_symbol:SPNS3 ; biolink:category biolink:Gene . OMIM:611702 a owl:Class ; rdfs:label "spondylometaphyseal dysplasia, east african iia" ; IAO:0000142 PMID:12457408, PMID:1870931 ; - oboInOwl:hasDbXref UMLS:C2673686 ; - oboInOwl:hasExactSynonym "spondylometaphyseal dysplasia, east african iia" . + oboInOwl:hasExactSynonym "spondylometaphyseal dysplasia, east african iia" ; + skos:exactMatch UMLS:C2673686 . OMIM:611703 a owl:Class ; rdfs:label "ZNF436" ; IAO:0000142 PMID:17089209 ; - oboInOwl:hasDbXref UMLS:C1427144 ; oboInOwl:hasExactSynonym "ZNF436", "kiaa1710", "zinc finger protein 436" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80818 ; - skos:exactMatch HGNC_symbol:ZNF436 ; + skos:exactMatch UMLS:C1427144, + HGNC:20814, + HGNC_symbol:ZNF436 ; biolink:category biolink:Gene . OMIM:611704 a owl:Class ; rdfs:label "TMPRSS11A" ; IAO:0000142 PMID:16267096 ; - oboInOwl:hasDbXref UMLS:C1540024 ; oboInOwl:hasExactSynonym "TMPRSS11A", "esophageal cancer-related gene 1", "transmembrane protease, serine 11a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339967 ; - skos:exactMatch HGNC_symbol:TMPRSS11A ; + skos:exactMatch UMLS:C1540024, + HGNC:27954, + HGNC_symbol:TMPRSS11A ; biolink:category biolink:Gene . OMIM:611705 a owl:Class ; rdfs:label "salih myopathy" ; IAO:0000142 PMID:17444505, PMID:24105469 ; - oboInOwl:hasDbXref UMLS:C2673677 ; oboInOwl:hasExactSynonym "SALMY", "myopathy, early-onset, with fatal cardiomyopathy", "salih myopathy" ; + skos:exactMatch UMLS:C2673677 ; biolink:category biolink:Disease . OMIM:611707 a owl:Class ; rdfs:label "MPZL3" ; IAO:0000142 PMID:17273165, PMID:23715724 ; - oboInOwl:hasDbXref UMLS:C2239757 ; oboInOwl:hasExactSynonym "MPZL3", "myelin protein zero-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196264 ; - skos:exactMatch HGNC_symbol:MPZL3 ; + skos:exactMatch UMLS:C2239757, + HGNC:27279, + HGNC_symbol:MPZL3 ; biolink:category biolink:Gene . OMIM:611708 a owl:Class ; rdfs:label "MIR431" ; IAO:0000142 PMID:15891114, PMID:17943132 ; - oboInOwl:hasDbXref UMLS:C1826023 ; oboInOwl:hasExactSynonym "MIR431", "micro RNA 431", "mirn431", "mirna431" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574038 ; - skos:exactMatch HGNC_symbol:MIR431 ; + skos:exactMatch UMLS:C1826023, + HGNC:32027, + HGNC_symbol:MIR431 ; biolink:category biolink:Gene . OMIM:611709 a owl:Class ; rdfs:label "MIR127" ; IAO:0000142 PMID:15891114 ; - oboInOwl:hasDbXref UMLS:C1537774 ; oboInOwl:hasExactSynonym "MIR127", "micro RNA 127", "mirn127", "mirna127" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406914 ; - skos:exactMatch HGNC_symbol:MIR127 ; + skos:exactMatch UMLS:C1537774, + HGNC:31509, + HGNC_symbol:MIR127 ; biolink:category biolink:Gene . OMIM:611710 a owl:Class ; rdfs:label "MIR136" ; IAO:0000142 PMID:15891114 ; - oboInOwl:hasDbXref UMLS:C1537789 ; oboInOwl:hasExactSynonym "MIR136", "micro RNA 136", "mirn136", "mirna136" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406927 ; - skos:exactMatch HGNC_symbol:MIR136 ; + skos:exactMatch UMLS:C1537789, + HGNC:31522, + HGNC_symbol:MIR136 ; biolink:category biolink:Gene . OMIM:611711 a owl:Class ; @@ -295791,37 +307683,40 @@ OMIM:611711 a owl:Class ; IAO:0000142 PMID:11710888, PMID:15891114, PMID:18252210 ; - oboInOwl:hasDbXref UMLS:C1826025 ; oboInOwl:hasExactSynonym "MIR433", "micro RNA 433", "mirn433", "mirna433" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574034 ; - skos:exactMatch HGNC_symbol:MIR433 ; + skos:exactMatch UMLS:C1826025, + HGNC:32026, + HGNC_symbol:MIR433 ; biolink:category biolink:Gene . OMIM:611712 a owl:Class ; rdfs:label "HIPK4" ; IAO:0000142 PMID:18022393 ; - oboInOwl:hasDbXref UMLS:C1425946 ; oboInOwl:hasExactSynonym "HIPK4", "homeodomain-interacting protein kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147746 ; - skos:exactMatch HGNC_symbol:HIPK4 ; + skos:exactMatch UMLS:C1425946, + HGNC:19007, + HGNC_symbol:HIPK4 ; biolink:category biolink:Gene . OMIM:611713 a owl:Class ; rdfs:label "TCTEX1D4" ; IAO:0000142 PMID:16982625 ; - oboInOwl:hasDbXref UMLS:C2240074 ; oboInOwl:hasExactSynonym "TCTEX1D4", "tctex1 domain-containing protein 4", "tctex2-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343521 ; - skos:exactMatch HGNC_symbol:DYNLT4 ; + skos:exactMatch UMLS:C2240074, + HGNC:32315, + HGNC_symbol:DYNLT4 ; biolink:category biolink:Gene . OMIM:611714 a owl:Class ; @@ -295830,7 +307725,6 @@ OMIM:611714 a owl:Class ; PMID:17545148, PMID:18385674, PMID:29959197 ; - oboInOwl:hasDbXref UMLS:C1539548 ; oboInOwl:hasExactSynonym "GAPVD1", "gtpase-activating protein and vps9 domains 1", "kiaa1521", @@ -295838,7 +307732,9 @@ OMIM:611714 a owl:Class ; "rab5-activating protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26130 ; - skos:exactMatch HGNC_symbol:GAPVD1 ; + skos:exactMatch UMLS:C1539548, + HGNC:23375, + HGNC_symbol:GAPVD1 ; biolink:category biolink:Gene . OMIM:611715 a owl:Class ; @@ -295851,7 +307747,6 @@ OMIM:611715 a owl:Class ; PMID:21937992 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:612713 ; - oboInOwl:hasDbXref UMLS:C2240046 ; oboInOwl:hasExactSynonym "SRD5A3", "polyprenol reductase", "srd5a2l", @@ -295859,7 +307754,9 @@ OMIM:611715 a owl:Class ; "steroid 5-alpha-reductase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79644 ; - skos:exactMatch HGNC_symbol:SRD5A3 ; + skos:exactMatch UMLS:C2240046, + HGNC:25812, + HGNC_symbol:SRD5A3 ; biolink:category biolink:Gene . OMIM:611716 a owl:Class ; @@ -295873,36 +307770,37 @@ OMIM:611716 a owl:Class ; PMID:22773132 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:278250 ; - oboInOwl:hasDbXref UMLS:C0268355, - UMLS:C0406587, - UMLS:C1425544 ; oboInOwl:hasExactSynonym "ATP6V0A2", "a2v-atpase", "atpase, h+ transporting, lysosomal, v0 subunit a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23545 ; - skos:exactMatch HGNC_symbol:ATP6V0A2 ; + skos:exactMatch UMLS:C0268355, + UMLS:C0406587, + UMLS:C1425544, + HGNC:18481, + HGNC_symbol:ATP6V0A2 ; biolink:category biolink:Gene . OMIM:611717 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech" ; IAO:0000142 PMID:17515304, PMID:7493737 ; - oboInOwl:hasDbXref UMLS:C2673649 ; oboInOwl:hasExactSynonym "fantasy island syndrome", "sed-bds", "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech", "tatoo dysplasia" ; + skos:exactMatch UMLS:C2673649 ; biolink:category biolink:Disease . OMIM:611719 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 5" ; IAO:0000142 PMID:17873122, PMID:21189481 ; - oboInOwl:hasDbXref UMLS:C2673642 ; oboInOwl:hasExactSynonym "COXPD5", "combined oxidative phosphorylation deficiency 5" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C2673642 ; biolink:category biolink:Disease . OMIM:611720 a owl:Class ; @@ -295913,14 +307811,15 @@ OMIM:611720 a owl:Class ; PMID:30166628 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:618088 ; - oboInOwl:hasDbXref UMLS:C1422540 ; oboInOwl:hasExactSynonym "IRF2BPL", "chromosome 14 open reading frame 4", "enhanced at puberty 1", "interferon regulatory factor 2-binding protein like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64207 ; - skos:exactMatch HGNC_symbol:IRF2BPL ; + skos:exactMatch UMLS:C1422540, + HGNC:14282, + HGNC_symbol:IRF2BPL ; biolink:category biolink:Gene . OMIM:611721 a owl:Class ; @@ -295929,31 +307828,32 @@ OMIM:611721 a owl:Class ; PMID:1371116, PMID:19267410, PMID:2514102 ; - oboInOwl:hasDbXref UMLS:C2673635 ; oboInOwl:hasExactSynonym "PSAPD", "combined sap deficiency", "combined saposin deficiency", "prosaposin deficiency" ; + skos:exactMatch UMLS:C2673635 ; biolink:category biolink:Disease . OMIM:611722 a owl:Class ; rdfs:label "krabbe disease, atypical, due to saposin a deficiency" ; IAO:0000142 PMID:15773042 ; - oboInOwl:hasDbXref UMLS:C2673266 ; oboInOwl:hasExactSynonym "KRBSAPA", "krabbe disease, atypical, due to saposin a deficiency", "saposin a deficiency" ; + skos:exactMatch UMLS:C2673266 ; biolink:category biolink:Disease . OMIM:611723 a owl:Class ; rdfs:label "C21ORF24" ; IAO:0000142 PMID:14693372 ; - oboInOwl:hasDbXref UMLS:C1412951 ; oboInOwl:hasExactSynonym "C21ORF24", "chromosome 21 open reading frame 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400866 ; - skos:exactMatch HGNC_symbol:LINC00114 ; + skos:exactMatch UMLS:C1412951, + HGNC:1265, + HGNC_symbol:LINC00114 ; biolink:category biolink:Gene . OMIM:611725 a owl:Class ; @@ -295964,37 +307864,40 @@ OMIM:611725 a owl:Class ; PMID:22748208 ; RO:0002525 CHR:9606chr7q11.21 ; RO:0003303 OMIM:611726 ; - oboInOwl:hasDbXref UMLS:C1427750 ; oboInOwl:hasExactSynonym "KCTD7", "potassium channel tetramerization domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154881 ; - skos:exactMatch HGNC_symbol:KCTD7 ; + skos:exactMatch UMLS:C1427750, + HGNC:21957, + HGNC_symbol:KCTD7 ; biolink:category biolink:Gene . OMIM:611727 a owl:Class ; rdfs:label "C1ORF76" ; IAO:0000142 PMID:17208556 ; - oboInOwl:hasDbXref UMLS:C1823220 ; oboInOwl:hasExactSynonym "C1ORF76", "chromosome 1 open reading frame 76", "neuroblastoma-derived secretory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148753 ; - skos:exactMatch HGNC_symbol:FAM163A ; + skos:exactMatch UMLS:C1823220, + HGNC:28274, + HGNC_symbol:FAM163A ; biolink:category biolink:Gene . OMIM:611728 a owl:Class ; rdfs:label "PRR5L" ; IAO:0000142 PMID:17461779 ; - oboInOwl:hasDbXref UMLS:C2673256 ; oboInOwl:hasExactSynonym "PRR5L", "flj14213", "proline-rich protein 5-like", "protein observed with rictor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79899 ; - skos:exactMatch HGNC_symbol:PRR5L ; + skos:exactMatch UMLS:C2673256, + HGNC:25878, + HGNC_symbol:PRR5L ; biolink:category biolink:Gene . OMIM:611729 a owl:Class ; @@ -296007,12 +307910,13 @@ OMIM:611729 a owl:Class ; PMID:9624122 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:609541 ; - oboInOwl:hasDbXref UMLS:C1825716 ; oboInOwl:hasExactSynonym "KLC2", "kinesin light chain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64837 ; - skos:exactMatch HGNC_symbol:KLC2 ; + skos:exactMatch UMLS:C1825716, + HGNC:20716, + HGNC_symbol:KLC2 ; biolink:category biolink:Gene . OMIM:611730 a owl:Class ; @@ -296022,13 +307926,14 @@ OMIM:611730 a owl:Class ; PMID:15084287, PMID:17920587, PMID:19553998 ; - oboInOwl:hasDbXref UMLS:C1426448 ; oboInOwl:hasExactSynonym "EPB41L5", "erythrocyte membrane protein band 4.1-like 5", "kiaa1548" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57669 ; - skos:exactMatch HGNC_symbol:EPB41L5 ; + skos:exactMatch UMLS:C1426448, + HGNC:19819, + HGNC_symbol:EPB41L5 ; biolink:category biolink:Gene . OMIM:611731 a owl:Class ; @@ -296229,7 +308134,13 @@ OMIM:611731 a owl:Class ; PMID:9973276 ; RO:0002525 CHR:9606chr5q22.2 ; RO:0003303 OMIM:114550 ; - oboInOwl:hasDbXref UMLS:C0017097, + oboInOwl:hasExactSynonym "APC", + "apc gene", + "apc regulator of wnt signaling pathway", + "deleted 1n polyposis 2.5" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:324 ; + skos:exactMatch UMLS:C0017097, UMLS:C0032580, UMLS:C0162832, UMLS:C1833970, @@ -296245,36 +308156,32 @@ OMIM:611731 a owl:Class ; UMLS:C4015935, UMLS:C4017261, UMLS:C4017262, - UMLS:C4310860 ; - oboInOwl:hasExactSynonym "APC", - "apc gene", - "apc regulator of wnt signaling pathway", - "deleted 1n polyposis 2.5" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:324 ; - skos:exactMatch HGNC_symbol:APC ; + UMLS:C4310860, + HGNC:583, + HGNC_symbol:APC ; biolink:category biolink:Gene . OMIM:611732 a owl:Class ; rdfs:label "MBOAT1" ; IAO:0000142 PMID:17440500, PMID:18287005 ; - oboInOwl:hasDbXref UMLS:C1427626 ; oboInOwl:hasExactSynonym "MBOAT1", "lysophosphatidylethanolamine acyltransferase 1", "membrane-bound o-acetyltransferase 1", "membrane-bound o-acetyltransferase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154141 ; - skos:exactMatch HGNC_symbol:MBOAT1 ; + skos:exactMatch UMLS:C1427626, + HGNC:21579, + HGNC_symbol:MBOAT1 ; biolink:category biolink:Gene . OMIM:611733 a owl:Class ; rdfs:label "dauwerse-peters syndrome" ; IAO:0000142 PMID:17440500 ; - oboInOwl:hasDbXref UMLS:C2673203 ; oboInOwl:hasExactSynonym "dauwerse-peters syndrome", - "short stature, facial dysmorphism, severe brachydactyly, and syndactyly" . + "short stature, facial dysmorphism, severe brachydactyly, and syndactyly" ; + skos:exactMatch UMLS:C2673203 . OMIM:611734 a owl:Class ; rdfs:label "WDR77" ; @@ -296283,14 +308190,15 @@ OMIM:611734 a owl:Class ; PMID:16712789, PMID:17437848, PMID:18356297 ; - oboInOwl:hasDbXref UMLS:C1823841 ; oboInOwl:hasExactSynonym "WDR77", "androgen receptor-associated protein, 44-kd", "methylosome protein, 50-kd", "wd repeat-containing protein 77" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79084 ; - skos:exactMatch HGNC_symbol:WDR77 ; + skos:exactMatch UMLS:C1823841, + HGNC:29652, + HGNC_symbol:WDR77 ; biolink:category biolink:Gene . OMIM:611735 a owl:Class ; @@ -296302,40 +308210,43 @@ OMIM:611735 a owl:Class ; PMID:16926850, PMID:17335815, PMID:28760953 ; - oboInOwl:hasDbXref UMLS:C1540305 ; oboInOwl:hasExactSynonym "CDCP1", "cd318 antigen", "cub domain-containing protein 1", "sima135" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64866 ; - skos:exactMatch HGNC_symbol:CDCP1 ; + skos:exactMatch UMLS:C1540305, + HGNC:24357, + HGNC_symbol:CDCP1 ; biolink:category biolink:Gene . OMIM:611736 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:11103799, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C2673202 ; oboInOwl:hasExactSynonym "greb1", "greb1 protein", "kiaa0575" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9687 ; - skos:exactMatch HGNC_symbol:GREB1 ; + skos:exactMatch UMLS:C2673202, + HGNC:24885, + HGNC_symbol:GREB1 ; biolink:category biolink:Gene . OMIM:611737 a owl:Class ; rdfs:label "SEPT10" ; IAO:0000142 PMID:12711328, PMID:15915442 ; - oboInOwl:hasDbXref UMLS:C1422584 ; oboInOwl:hasExactSynonym "SEPT10", "sept1-like", "septin 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151011 ; - skos:exactMatch HGNC_symbol:SEPTIN10 ; + skos:exactMatch UMLS:C1422584, + HGNC:14349, + HGNC_symbol:SEPTIN10 ; biolink:category biolink:Gene . OMIM:611740 a owl:Class ; @@ -296343,7 +308254,6 @@ OMIM:611740 a owl:Class ; IAO:0000142 PMID:11278918, PMID:25701869, PMID:32527835 ; - oboInOwl:hasDbXref UMLS:C1425564 ; oboInOwl:hasExactSynonym "BCO2", "beta-carotene 9-prime,10-prime monooxygenase", "beta-carotene 9-prime,10-prime oxygenase", @@ -296352,7 +308262,9 @@ OMIM:611740 a owl:Class ; "beta-diox-ii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83875 ; - skos:exactMatch HGNC_symbol:BCO2 ; + skos:exactMatch UMLS:C1425564, + HGNC:18503, + HGNC_symbol:BCO2 ; biolink:category biolink:Gene . OMIM:611741 a owl:Class ; @@ -296364,7 +308276,6 @@ OMIM:611741 a owl:Class ; PMID:9571199, PMID:9744806, PMID:9886053 ; - oboInOwl:hasDbXref UMLS:C1412116 ; oboInOwl:hasExactSynonym "ASIC3", "acid-sensing ion channel, subunit 3", "cation channel, amiloride-sensitive, neuronal 3", @@ -296372,21 +308283,24 @@ OMIM:611741 a owl:Class ; "testis sodium channel 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9311 ; - skos:exactMatch HGNC_symbol:ASIC3 ; + skos:exactMatch UMLS:C1412116, + HGNC:101, + HGNC_symbol:ASIC3 ; biolink:category biolink:Gene . OMIM:611743 a owl:Class ; rdfs:label "PLEKHG6" ; IAO:0000142 PMID:16721066, PMID:17881735 ; - oboInOwl:hasDbXref UMLS:C1826597 ; oboInOwl:hasExactSynonym "PLEKHG6", "myosin-interacting guanine nucleotide exchange factor", "pleckstrin homology domain- and rhogef domain-containing protein g6", "pleckstrin homology domain-containing protein, family g, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55200 ; - skos:exactMatch HGNC_symbol:PLEKHG6 ; + skos:exactMatch UMLS:C1826597, + HGNC:25562, + HGNC_symbol:PLEKHG6 ; biolink:category biolink:Gene . OMIM:611744 a owl:Class ; @@ -296395,14 +308309,15 @@ OMIM:611744 a owl:Class ; PMID:11932290, PMID:1475186, PMID:23656588 ; - oboInOwl:hasDbXref UMLS:C1826520 ; oboInOwl:hasExactSynonym "OTUD4", "hiv-1 integration 1", "kiaa1046", "otu domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54726 ; - skos:exactMatch HGNC_symbol:OTUD4 ; + skos:exactMatch UMLS:C1826520, + HGNC:24949, + HGNC_symbol:OTUD4 ; biolink:category biolink:Gene . OMIM:611745 a owl:Class ; @@ -296410,38 +308325,41 @@ OMIM:611745 a owl:Class ; IAO:0000142 PMID:11347906, PMID:12473691, PMID:15037600 ; - oboInOwl:hasDbXref UMLS:C1540173 ; oboInOwl:hasExactSynonym "VCPIP1", "kiaa1850", "vcp/p47 complex-interacting protein 1", "vcp/p47 complex-interacting protein, 135-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80124 ; - skos:exactMatch HGNC_symbol:VCPIP1 ; + skos:exactMatch UMLS:C1540173, + HGNC:30897, + HGNC_symbol:VCPIP1 ; biolink:category biolink:Gene . OMIM:611746 a owl:Class ; rdfs:label "SCUBE1" ; IAO:0000142 PMID:11087664, PMID:12270931 ; - oboInOwl:hasDbXref UMLS:C1421995 ; oboInOwl:hasExactSynonym "SCUBE1", "signal peptide-, cub domain-, and egf-like domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80274 ; - skos:exactMatch HGNC_symbol:SCUBE1 ; + skos:exactMatch UMLS:C1421995, + HGNC:13441, + HGNC_symbol:SCUBE1 ; biolink:category biolink:Gene . OMIM:611747 a owl:Class ; rdfs:label "SCUBE2" ; IAO:0000142 PMID:12270931, PMID:21652720 ; - oboInOwl:hasDbXref UMLS:C1539733 ; oboInOwl:hasExactSynonym "SCUBE2", "signal peptide-, cub domain-, and egf-like domains-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57758 ; - skos:exactMatch HGNC_symbol:SCUBE2 ; + skos:exactMatch UMLS:C1539733, + HGNC:30425, + HGNC_symbol:SCUBE2 ; biolink:category biolink:Gene . OMIM:611748 a owl:Class ; @@ -296451,93 +308369,100 @@ OMIM:611748 a owl:Class ; PMID:23334419, PMID:27732584, PMID:28489822 ; - oboInOwl:hasDbXref UMLS:C1826525 ; oboInOwl:hasExactSynonym "OTUD7B", "cellular zinc finger anti-nfkb", "cezanne", "otu domain-containing protein 7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56957 ; - skos:exactMatch HGNC_symbol:OTUD7B ; + skos:exactMatch UMLS:C1826525, + HGNC:16683, + HGNC_symbol:OTUD7B ; biolink:category biolink:Gene . OMIM:611749 a owl:Class ; rdfs:label "ZRANB1" ; IAO:0000142 PMID:11463333 ; - oboInOwl:hasDbXref UMLS:C1425380 ; oboInOwl:hasExactSynonym "ZRANB1", "traf-binding domain-containing protein", "zinc finger ran-binding domain-containing protein 1", "zinc finger ranbp2-type domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54764 ; - skos:exactMatch HGNC_symbol:ZRANB1 ; + skos:exactMatch UMLS:C1425380, + HGNC:18224, + HGNC_symbol:ZRANB1 ; biolink:category biolink:Gene . OMIM:611750 a owl:Class ; rdfs:label "SYNC1" ; IAO:0000142 PMID:11053421, PMID:16124004 ; - oboInOwl:hasDbXref UMLS:C1539905 ; oboInOwl:hasExactSynonym "SYNC1", "syncoilin", "syncoilin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81493 ; - skos:exactMatch HGNC_symbol:SYNC ; + skos:exactMatch UMLS:C1539905, + HGNC:28897, + HGNC_symbol:SYNC ; biolink:category biolink:Gene . OMIM:611751 a owl:Class ; rdfs:label "THUMPD2" ; IAO:0000142 PMID:12063391 ; - oboInOwl:hasDbXref UMLS:C1539962 ; oboInOwl:hasExactSynonym "THUMPD2", "chromosome 2 open reading frame 8", "sam-dependent methyltransferase", "thump domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80745 ; - skos:exactMatch HGNC_symbol:THUMPD2 ; + skos:exactMatch UMLS:C1539962, + HGNC:14890, + HGNC_symbol:THUMPD2 ; biolink:category biolink:Gene . OMIM:611752 a owl:Class ; rdfs:label "ECRG4" ; IAO:0000142 PMID:12800218, PMID:20404145 ; - oboInOwl:hasDbXref UMLS:C1824107 ; oboInOwl:hasExactSynonym "ECRG4", "chromosome 2 open reading frame 40", "ecrg4 augurin precursor", "esophageal cancer-related gene 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84417 ; - skos:exactMatch HGNC_symbol:ECRG4 ; + skos:exactMatch UMLS:C1824107, + HGNC:24642, + HGNC_symbol:ECRG4 ; biolink:category biolink:Gene . OMIM:611753 a owl:Class ; rdfs:label "VMP1" ; IAO:0000142 PMID:11785947, PMID:19597153 ; - oboInOwl:hasDbXref UMLS:C1823309 ; oboInOwl:hasExactSynonym "VMP1", "transmembrane protein 49", "vacuole membrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81671 ; - skos:exactMatch HGNC_symbol:VMP1 ; + skos:exactMatch UMLS:C1823309, + HGNC:29559, + HGNC_symbol:VMP1 ; biolink:category biolink:Gene . OMIM:611754 a owl:Class ; rdfs:label "AADAT" ; IAO:0000142 PMID:10441733, PMID:12126930 ; - oboInOwl:hasDbXref UMLS:C1425183 ; oboInOwl:hasExactSynonym "AADAT", "alpha-aminoadipate aminotransferase", "kynurenine aminotransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51166 ; - skos:exactMatch HGNC_symbol:AADAT ; + skos:exactMatch UMLS:C1425183, + HGNC:17929, + HGNC_symbol:AADAT ; biolink:category biolink:Gene . OMIM:611755 a owl:Class ; @@ -296547,16 +308472,15 @@ OMIM:611755 a owl:Class ; PMID:17554762, PMID:17898177, PMID:20805370 ; - oboInOwl:hasDbXref UMLS:C1857821 ; oboInOwl:hasExactSynonym "LCA10", "leber congenital amaurosis 10" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C1857821 ; biolink:category biolink:Disease . OMIM:611756 a owl:Class ; rdfs:label "ROPN1L" ; IAO:0000142 PMID:11278869 ; - oboInOwl:hasDbXref UMLS:C1538881 ; oboInOwl:hasExactSynonym "ROPN1L", "akap-associated sperm protein", "radial spoke head 11, chlamydomonas, homolog of", @@ -296564,59 +308488,65 @@ OMIM:611756 a owl:Class ; "ropn1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83853 ; - skos:exactMatch HGNC_symbol:ROPN1L ; + skos:exactMatch UMLS:C1538881, + HGNC:24060, + HGNC_symbol:ROPN1L ; biolink:category biolink:Gene . OMIM:611757 a owl:Class ; rdfs:label "ROPN1" ; IAO:0000142 PMID:10591629, PMID:11278869 ; - oboInOwl:hasDbXref UMLS:C1425039 ; oboInOwl:hasExactSynonym "ROPN1", "outer dense fiber of sperm tails 6", "rhophilin-associated tail protein 1", "ropporin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54763 ; - skos:exactMatch HGNC_symbol:ROPN1 ; + skos:exactMatch UMLS:C1425039, + HGNC:17692, + HGNC_symbol:ROPN1 ; biolink:category biolink:Gene . OMIM:611758 a owl:Class ; rdfs:label "OTUD3" ; IAO:0000142 PMID:9455484 ; - oboInOwl:hasDbXref UMLS:C1826519 ; oboInOwl:hasExactSynonym "OTUD3", "kiaa0459", "otu domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23252 ; - skos:exactMatch HGNC_symbol:OTUD3 ; + skos:exactMatch UMLS:C1826519, + HGNC:29038, + HGNC_symbol:OTUD3 ; biolink:category biolink:Gene . OMIM:611759 a owl:Class ; rdfs:label "STARD3NL" ; IAO:0000142 PMID:12393907, PMID:16709157 ; - oboInOwl:hasDbXref UMLS:C1426060 ; oboInOwl:hasExactSynonym "STARD3NL", "mln64 n-terminal domain homolog", "stard3 n-terminal-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83930 ; - skos:exactMatch HGNC_symbol:STARD3NL ; + skos:exactMatch UMLS:C1426060, + HGNC:19169, + HGNC_symbol:STARD3NL ; biolink:category biolink:Gene . OMIM:611760 a owl:Class ; rdfs:label "PCDH17" ; IAO:0000142 PMID:11082270, PMID:17978184 ; - oboInOwl:hasDbXref UMLS:C1422527 ; oboInOwl:hasExactSynonym "PCDH17", "protocadherin 17", "protocadherin 68" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27253 ; - skos:exactMatch HGNC_symbol:PCDH17 ; + skos:exactMatch UMLS:C1422527, + HGNC:14267, + HGNC_symbol:PCDH17 ; biolink:category biolink:Gene . OMIM:611761 a owl:Class ; @@ -296630,37 +308560,40 @@ OMIM:611761 a owl:Class ; PMID:9225211 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:246650 ; - oboInOwl:hasDbXref UMLS:C1823374 ; oboInOwl:hasExactSynonym "LMF1", "lipase maturation factor 1", "transmembrane protein 112" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64788 ; - skos:exactMatch HGNC_symbol:LMF1 ; + skos:exactMatch UMLS:C1823374, + HGNC:14154, + HGNC_symbol:LMF1 ; biolink:category biolink:Gene . OMIM:611763 a owl:Class ; rdfs:label "LBH" ; IAO:0000142 PMID:11336496 ; - oboInOwl:hasDbXref UMLS:C1825795 ; oboInOwl:hasExactSynonym "LBH", "lbh regulator of wnt signaling pathway", "limb bud and heart development, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81606 ; - skos:exactMatch HGNC_symbol:LBH ; + skos:exactMatch UMLS:C1825795, + HGNC:29532, + HGNC_symbol:LBH ; biolink:category biolink:Gene . OMIM:611764 a owl:Class ; rdfs:label "CNFN" ; IAO:0000142 PMID:15147942, PMID:9115270 ; - oboInOwl:hasDbXref UMLS:C1539111 ; oboInOwl:hasExactSynonym "CNFN", "cornifelin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84518 ; - skos:exactMatch HGNC_symbol:CNFN ; + skos:exactMatch UMLS:C1539111, + HGNC:30183, + HGNC_symbol:CNFN ; biolink:category biolink:Gene . OMIM:611765 a owl:Class ; @@ -296671,8 +308604,6 @@ OMIM:611765 a owl:Class ; PMID:6499258 ; RO:0002525 CHR:9606chr2p13.3 ; RO:0003303 OMIM:146750 ; - oboInOwl:hasDbXref UMLS:C0432304, - UMLS:C2239905 ; oboInOwl:hasExactSynonym "ASPRV1", "aspartic peptidase, retroviral-like 1", "muno", @@ -296681,7 +308612,10 @@ OMIM:611765 a owl:Class ; "tpa-inducible aspartic proteinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151516 ; - skos:exactMatch HGNC_symbol:ASPRV1 ; + skos:exactMatch UMLS:C0432304, + UMLS:C2239905, + HGNC:26321, + HGNC_symbol:ASPRV1 ; biolink:category biolink:Gene . OMIM:611766 a owl:Class ; @@ -296693,12 +308627,13 @@ OMIM:611766 a owl:Class ; PMID:9614118 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:618248 ; - oboInOwl:hasDbXref UMLS:C1826321 ; oboInOwl:hasExactSynonym "MTFMT", "mitochondrial methionyl-trna formyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123263 ; - skos:exactMatch HGNC_symbol:MTFMT ; + skos:exactMatch UMLS:C1826321, + HGNC:29666, + HGNC_symbol:MTFMT ; biolink:category biolink:Gene . OMIM:611767 a owl:Class ; @@ -296711,7 +308646,6 @@ OMIM:611767 a owl:Class ; PMID:19843690, PMID:20364122, PMID:24994098 ; - oboInOwl:hasDbXref UMLS:C1537773 ; oboInOwl:hasExactSynonym "MIR126", "micro RNA 123", "micro RNA 126", @@ -296720,20 +308654,23 @@ OMIM:611767 a owl:Class ; "mirna126" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406913 ; - skos:exactMatch HGNC_symbol:MIR126 ; + skos:exactMatch UMLS:C1537773, + HGNC:31508, + HGNC_symbol:MIR126 ; biolink:category biolink:Gene . OMIM:611768 a owl:Class ; rdfs:label "MIR335" ; IAO:0000142 PMID:18185580 ; - oboInOwl:hasDbXref UMLS:C1537879 ; oboInOwl:hasExactSynonym "MIR335", "micro RNA 335", "mirn335", "mirna335" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442904 ; - skos:exactMatch HGNC_symbol:MIR335 ; + skos:exactMatch UMLS:C1537879, + HGNC:31773, + HGNC_symbol:MIR335 ; biolink:category biolink:Gene . OMIM:611769 a owl:Class ; @@ -296741,7 +308678,6 @@ OMIM:611769 a owl:Class ; IAO:0000142 PMID:18056805, PMID:24311694, PMID:29581509 ; - oboInOwl:hasDbXref UMLS:C1537776 ; oboInOwl:hasExactSynonym "MIR128-2", "micro RNA 128-2", "mir128b", @@ -296749,7 +308685,9 @@ OMIM:611769 a owl:Class ; "mirna128-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406916 ; - skos:exactMatch HGNC_symbol:MIR128-2 ; + skos:exactMatch UMLS:C1537776, + HGNC:31511, + HGNC_symbol:MIR128-2 ; biolink:category biolink:Gene . OMIM:611770 a owl:Class ; @@ -296761,16 +308699,17 @@ OMIM:611770 a owl:Class ; PMID:9621430 ; RO:0002525 CHR:9606chr8p21.2 ; RO:0003303 OMIM:217095 ; - oboInOwl:hasDbXref UMLS:C0041207, - UMLS:C1826429, - UMLS:C1857586 ; oboInOwl:hasExactSynonym "NKX2-6", "cardiac-specific homeobox 2", "nk2 homeobox 6", "nk2, drosophila, homolog of, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137814 ; - skos:exactMatch HGNC_symbol:NKX2-6 ; + skos:exactMatch UMLS:C0041207, + UMLS:C1826429, + UMLS:C1857586, + HGNC:32940, + HGNC_symbol:NKX2-6 ; biolink:category biolink:Gene . OMIM:611771 a owl:Class ; @@ -296780,9 +308719,9 @@ OMIM:611771 a owl:Class ; PMID:16431249, PMID:18077821, PMID:9176854 ; - oboInOwl:hasDbXref UMLS:C2673196 ; oboInOwl:hasExactSynonym "LPG", "lipoprotein glomerulopathy" ; + skos:exactMatch UMLS:C2673196 ; biolink:category biolink:Disease . OMIM:611772 a owl:Class ; @@ -296792,7 +308731,6 @@ OMIM:611772 a owl:Class ; PMID:12438418, PMID:17535814, PMID:33721060 ; - oboInOwl:hasDbXref UMLS:C1826495 ; oboInOwl:hasExactSynonym "NUF2", "cell division cycle-associated protein 1", "nuf2 component of ndc80 kinetochore complex", @@ -296800,7 +308738,9 @@ OMIM:611772 a owl:Class ; "nuf2r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83540 ; - skos:exactMatch HGNC_symbol:NUF2 ; + skos:exactMatch UMLS:C1826495, + HGNC:14621, + HGNC_symbol:NUF2 ; biolink:category biolink:Gene . OMIM:611773 a owl:Class ; @@ -296814,9 +308754,9 @@ OMIM:611773 a owl:Class ; PMID:20056676, PMID:20818663, PMID:25719457 ; - oboInOwl:hasDbXref UMLS:C2673195 ; oboInOwl:hasExactSynonym "HANAC", "angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" ; + skos:exactMatch UMLS:C2673195 ; biolink:category biolink:Disease . OMIM:611774 a owl:Class ; @@ -296824,7 +308764,6 @@ OMIM:611774 a owl:Class ; IAO:0000142 PMID:16039986, PMID:18056805, PMID:24311694 ; - oboInOwl:hasDbXref UMLS:C1537775 ; oboInOwl:hasExactSynonym "MIR128-1", "micro RNA 128-1", "mir128a", @@ -296832,7 +308771,9 @@ OMIM:611774 a owl:Class ; "mirna128-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406915 ; - skos:exactMatch HGNC_symbol:MIR128-1 ; + skos:exactMatch UMLS:C1537775, + HGNC:31510, + HGNC_symbol:MIR128-1 ; biolink:category biolink:Gene . OMIM:611776 a owl:Class ; @@ -296842,7 +308783,6 @@ OMIM:611776 a owl:Class ; PMID:28853723 ; RO:0002525 CHR:9606chr6q16.1 ; RO:0003303 OMIM:618237 ; - oboInOwl:hasDbXref UMLS:C1427260 ; oboInOwl:hasExactSynonym "NADH dehydrogenase (ubiquinone) complex i, assembly factor 4", "NADH dehydrogenase 1 alpha subcomplex, assembly factor 4", "NDUFAF4", @@ -296850,7 +308790,9 @@ OMIM:611776 a owl:Class ; "hormone-regulated proliferation-associated protein, 20-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29078 ; - skos:exactMatch HGNC_symbol:NDUFAF4 ; + skos:exactMatch UMLS:C1427260, + HGNC:21034, + HGNC_symbol:NDUFAF4 ; biolink:category biolink:Gene . OMIM:611778 a owl:Class ; @@ -296861,37 +308803,40 @@ OMIM:611778 a owl:Class ; PMID:7788527 ; RO:0002525 CHR:9606chr3p22.3 ; RO:0003303 OMIM:611777 ; - oboInOwl:hasDbXref UMLS:C1539599 ; oboInOwl:hasExactSynonym "GPD1L", "glycerol-3-phosphate dehydrogenase 1-like", "kiaa0089" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23171 ; - skos:exactMatch HGNC_symbol:GPD1L ; + skos:exactMatch UMLS:C1539599, + HGNC:28956, + HGNC_symbol:GPD1L ; biolink:category biolink:Gene . OMIM:611779 a owl:Class ; rdfs:label "FSCB" ; IAO:0000142 PMID:17855365 ; - oboInOwl:hasDbXref UMLS:C1539043 ; oboInOwl:hasExactSynonym "FSCB", "chromosome 14 open reading frame 155", "fibrous sheath cabyr-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84075 ; - skos:exactMatch HGNC_symbol:FSCB ; + skos:exactMatch UMLS:C1539043, + HGNC:20494, + HGNC_symbol:FSCB ; biolink:category biolink:Gene . OMIM:611780 a owl:Class ; rdfs:label "PHRF1" ; IAO:0000142 PMID:10819331 ; - oboInOwl:hasDbXref UMLS:C2673188 ; oboInOwl:hasExactSynonym "PHRF1", "kiaa1542", "phd and ring finger domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57661 ; - skos:exactMatch HGNC_symbol:PHRF1 ; + skos:exactMatch UMLS:C2673188, + HGNC:24351, + HGNC_symbol:PHRF1 ; biolink:category biolink:Gene . OMIM:611781 a owl:Class ; @@ -296901,13 +308846,14 @@ OMIM:611781 a owl:Class ; PMID:18622394, PMID:20953172, PMID:23913270 ; - oboInOwl:hasDbXref UMLS:C1422338 ; oboInOwl:hasExactSynonym "PRDM14", "pfm11", "pr domain-containing protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63978 ; - skos:exactMatch HGNC_symbol:PRDM14 ; + skos:exactMatch UMLS:C1422338, + HGNC:14001, + HGNC_symbol:PRDM14 ; biolink:category biolink:Gene . OMIM:611782 a owl:Class ; @@ -296916,27 +308862,29 @@ OMIM:611782 a owl:Class ; PMID:11453658, PMID:12051741, PMID:18216854 ; - oboInOwl:hasDbXref UMLS:C1422818 ; oboInOwl:hasExactSynonym "DSCAML1", "down syndrome cell adhesion molecule-like 1", "dscam-like 1", "kiaa1132" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57453 ; - skos:exactMatch HGNC_symbol:DSCAML1 ; + skos:exactMatch UMLS:C1422818, + HGNC:14656, + HGNC_symbol:DSCAML1 ; biolink:category biolink:Gene . OMIM:611784 a owl:Class ; rdfs:label "GTF3C6" ; IAO:0000142 PMID:17409385 ; - oboInOwl:hasDbXref UMLS:C1427178 ; oboInOwl:hasExactSynonym "GTF3C6", "c6orf51", "general transcription factor 3c, polypeptide 6", "transcription factor iiic, 35-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112495 ; - skos:exactMatch HGNC_symbol:GTF3C6 ; + skos:exactMatch UMLS:C1427178, + HGNC:20872, + HGNC_symbol:GTF3C6 ; biolink:category biolink:Gene . OMIM:611785 a owl:Class ; @@ -296946,12 +308894,13 @@ OMIM:611785 a owl:Class ; PMID:15899824, PMID:18202660, PMID:25030174 ; - oboInOwl:hasDbXref UMLS:C1412072 ; oboInOwl:hasExactSynonym "ABCB5", "atp-binding cassette, subfamily b, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340273 ; - skos:exactMatch HGNC_symbol:ABCB5 ; + skos:exactMatch UMLS:C1412072, + HGNC:46, + HGNC_symbol:ABCB5 ; biolink:category biolink:Gene . OMIM:611786 a owl:Class ; @@ -296959,21 +308908,21 @@ OMIM:611786 a owl:Class ; IAO:0000142 PMID:15156151, PMID:18045866, PMID:31277925 ; - oboInOwl:hasDbXref UMLS:C1422348 ; oboInOwl:hasExactSynonym "MEMO1", "chromosome 2 open reading frame 4", "mediator of cell motility 1", "memo" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51072 ; - skos:exactMatch HGNC_symbol:MEMO1 ; + skos:exactMatch UMLS:C1422348, + HGNC:14014, + HGNC_symbol:MEMO1 ; biolink:category biolink:Gene . OMIM:611787 a owl:Class ; rdfs:label "CMPK2" ; IAO:0000142 PMID:17999954, PMID:7751651 ; - oboInOwl:hasDbXref UMLS:C2239305 ; oboInOwl:hasExactSynonym "CMPK2", "cytidine monophosphate (ump-cmp) kinase 2, mitochondrial", "cytidylate kinase 2", @@ -296982,7 +308931,9 @@ OMIM:611787 a owl:Class ; "uridine monophosphate/cytidine monophosphate 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129607 ; - skos:exactMatch HGNC_symbol:CMPK2 ; + skos:exactMatch UMLS:C2239305, + HGNC:27015, + HGNC_symbol:CMPK2 ; biolink:category biolink:Gene . OMIM:611788 a owl:Class ; @@ -296992,48 +308943,51 @@ OMIM:611788 a owl:Class ; PMID:21248741, PMID:24243736, PMID:7575269 ; - oboInOwl:hasDbXref UMLS:C2673186 ; oboInOwl:hasExactSynonym "AAT6", "aortic aneurysm, familial thoracic 6", "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi" ; rdfs:subClassOf OMIMPS:607086 ; + skos:exactMatch UMLS:C2673186 ; biolink:category biolink:Disease . OMIM:611789 a owl:Class ; rdfs:label "NHEDC2" ; IAO:0000142 PMID:18000046 ; - oboInOwl:hasDbXref UMLS:C2239781 ; oboInOwl:hasExactSynonym "NHEDC2", "na+/h+ exchanger domain-containing protein 2", "sodium hydrogen antiporter 2", "sodium/hydrogen exchanger domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133308 ; - skos:exactMatch HGNC_symbol:SLC9B2 ; + skos:exactMatch UMLS:C2239781, + HGNC:25143, + HGNC_symbol:SLC9B2 ; biolink:category biolink:Gene . OMIM:611790 a owl:Class ; rdfs:label "MYRIP" ; IAO:0000142 PMID:12221080, PMID:17827149 ; - oboInOwl:hasDbXref UMLS:C1426047 ; oboInOwl:hasExactSynonym "MYRIP", "myosin viia- and rab-interacting protein", "synaptotagmin-like protein lacking c2 domains c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25924 ; - skos:exactMatch HGNC_symbol:MYRIP ; + skos:exactMatch UMLS:C1426047, + HGNC:19156, + HGNC_symbol:MYRIP ; biolink:category biolink:Gene . OMIM:611791 a owl:Class ; rdfs:label "PTCHD3" ; IAO:0000142 PMID:17904097 ; - oboInOwl:hasDbXref UMLS:C1826734 ; oboInOwl:hasExactSynonym "PTCHD3", "patched domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374308 ; - skos:exactMatch HGNC_symbol:PTCHD3 ; + skos:exactMatch UMLS:C1826734, + HGNC:24776, + HGNC_symbol:PTCHD3 ; biolink:category biolink:Gene . OMIM:611792 a owl:Class ; @@ -297041,31 +308995,32 @@ OMIM:611792 a owl:Class ; IAO:0000142 PMID:15225602, PMID:30531910, PMID:31328227 ; - oboInOwl:hasDbXref UMLS:C1427776 ; oboInOwl:hasExactSynonym "ZCCHC4", "zinc finger cchc domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29063 ; - skos:exactMatch HGNC_symbol:ZCCHC4 ; + skos:exactMatch UMLS:C1427776, + HGNC:22917, + HGNC_symbol:ZCCHC4 ; biolink:category biolink:Gene . OMIM:611793 a owl:Class ; rdfs:label "LSM12" ; IAO:0000142 PMID:15225602, PMID:17074343 ; - oboInOwl:hasDbXref UMLS:C1825912 ; oboInOwl:hasExactSynonym "LSM12", "lsm12, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124801 ; - skos:exactMatch HGNC_symbol:LSM12 ; + skos:exactMatch UMLS:C1825912, + HGNC:26407, + HGNC_symbol:LSM12 ; biolink:category biolink:Gene . OMIM:611794 a owl:Class ; rdfs:label "MIR369" ; IAO:0000142 PMID:15891114, PMID:18048652 ; - oboInOwl:hasDbXref UMLS:C1537890 ; oboInOwl:hasExactSynonym "MIR369", "micro RNA 369", "micro RNA 369-5p", @@ -297074,7 +309029,9 @@ OMIM:611794 a owl:Class ; "mirna369" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442914 ; - skos:exactMatch HGNC_symbol:MIR369 ; + skos:exactMatch UMLS:C1537890, + HGNC:31783, + HGNC_symbol:MIR369 ; biolink:category biolink:Gene . OMIM:611795 a owl:Class ; @@ -297085,14 +309042,15 @@ OMIM:611795 a owl:Class ; PMID:19690389, PMID:19898489, PMID:24855947 ; - oboInOwl:hasDbXref UMLS:C1537799 ; oboInOwl:hasExactSynonym "MIR145", "micro RNA 145", "mirn145", "mirna145" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406937 ; - skos:exactMatch HGNC_symbol:MIR145 ; + skos:exactMatch UMLS:C1537799, + HGNC:31532, + HGNC_symbol:MIR145 ; biolink:category biolink:Gene . OMIM:611796 a owl:Class ; @@ -297101,18 +309059,18 @@ OMIM:611796 a owl:Class ; PMID:12388744, PMID:14597614, PMID:17200173 ; - oboInOwl:hasDbXref UMLS:C1422154 ; oboInOwl:hasExactSynonym "SCG3", "secretogranin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29106 ; - skos:exactMatch HGNC_symbol:SCG3 ; + skos:exactMatch UMLS:C1422154, + HGNC:13707, + HGNC_symbol:SCG3 ; biolink:category biolink:Gene . OMIM:611797 a owl:Class ; rdfs:label "UQCC1" ; IAO:0000142 PMID:11118897 ; - oboInOwl:hasDbXref UMLS:C1423811 ; oboInOwl:hasExactSynonym "UQCC1", "basic fibroblast growth factor-repressed zic-binding protein", "bfgf-repressed zic-binding protein", @@ -297122,7 +309080,9 @@ OMIM:611797 a owl:Class ; "uqcc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55245 ; - skos:exactMatch HGNC_symbol:UQCC1 ; + skos:exactMatch UMLS:C1423811, + HGNC:15891, + HGNC_symbol:UQCC1 ; biolink:category biolink:Gene . OMIM:611798 a owl:Class ; @@ -297130,14 +309090,15 @@ OMIM:611798 a owl:Class ; IAO:0000142 PMID:15363888, PMID:25380825, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C2239372 ; oboInOwl:hasExactSynonym "EFR3A", "efr3 homolog a", "efr3, s. cerevisiae, homolog of, a", "kiaa0143" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23167 ; - skos:exactMatch HGNC_symbol:EFR3A ; + skos:exactMatch UMLS:C2239372, + HGNC:28970, + HGNC_symbol:EFR3A ; biolink:category biolink:Gene . OMIM:611799 a owl:Class ; @@ -297145,8 +309106,6 @@ OMIM:611799 a owl:Class ; IAO:0000142 PMID:12560079, PMID:18391951, PMID:29628311 ; - oboInOwl:hasDbXref UMLS:C1825802, - UMLS:C4693012 ; oboInOwl:hasExactSynonym "LCORL", "lcor-like protein", "ligand-dependent nuclear receptor corepressor-like protein", @@ -297154,7 +309113,10 @@ OMIM:611799 a owl:Class ; "prc2-associated lcor isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254251 ; - skos:exactMatch HGNC_symbol:LCORL ; + skos:exactMatch UMLS:C1825802, + UMLS:C4693012, + HGNC:30776, + HGNC_symbol:LCORL ; biolink:category biolink:Gene . OMIM:611800 a owl:Class ; @@ -297164,14 +309126,15 @@ OMIM:611800 a owl:Class ; PMID:17889454, PMID:20043853, PMID:20448178 ; - oboInOwl:hasDbXref UMLS:C1426094 ; oboInOwl:hasExactSynonym "THADA", "kiaa1767", "thada armadillo repeat-containing protein", "thyroid adenoma-associated gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63892 ; - skos:exactMatch HGNC_symbol:THADA ; + skos:exactMatch UMLS:C1426094, + HGNC:19217, + HGNC_symbol:THADA ; biolink:category biolink:Gene . OMIM:611801 a owl:Class ; @@ -297185,8 +309148,6 @@ OMIM:611801 a owl:Class ; PMID:30345601 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:615716 ; - oboInOwl:hasDbXref UMLS:C1538624, - UMLS:C3810354 ; oboInOwl:hasExactSynonym "PGAP3", "gene coamplified with erbb2", "mgc9753", @@ -297194,7 +309155,10 @@ OMIM:611801 a owl:Class ; "post-gpi attachment to proteins 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93210 ; - skos:exactMatch HGNC_symbol:PGAP3 ; + skos:exactMatch UMLS:C1538624, + UMLS:C3810354, + HGNC:23719, + HGNC_symbol:PGAP3 ; biolink:category biolink:Gene . OMIM:611802 a owl:Class ; @@ -297202,7 +309166,6 @@ OMIM:611802 a owl:Class ; IAO:0000142 PMID:12739007, PMID:17121940, PMID:17503775 ; - oboInOwl:hasDbXref UMLS:C1428682 ; oboInOwl:hasExactSynonym "MIEN1", "c35", "chromosome 17 open reading frame 37", @@ -297210,19 +309173,22 @@ OMIM:611802 a owl:Class ; "redox protein, 12-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84299 ; - skos:exactMatch HGNC_symbol:MIEN1 ; + skos:exactMatch UMLS:C1428682, + HGNC:28230, + HGNC_symbol:MIEN1 ; biolink:category biolink:Gene . OMIM:611803 a owl:Class ; rdfs:label "ITFG1" ; IAO:0000142 PMID:12598909 ; - oboInOwl:hasDbXref UMLS:C1825626 ; oboInOwl:hasExactSynonym "ITFG1", "integrin-alpha fg-gap repeat-containing protein 1", "t-cell immunomodulatory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81533 ; - skos:exactMatch HGNC_symbol:ITFG1 ; + skos:exactMatch UMLS:C1825626, + HGNC:30697, + HGNC_symbol:ITFG1 ; biolink:category biolink:Gene . OMIM:611805 a owl:Class ; @@ -297231,13 +309197,14 @@ OMIM:611805 a owl:Class ; PMID:25065913 ; RO:0002525 CHR:9606chr6p12.1 ; RO:0003303 OMIM:615957 ; - oboInOwl:hasDbXref UMLS:C1427485 ; oboInOwl:hasExactSynonym "ELOVL5", "elongation of very long chain fatty acids-like 5", "helo1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60481 ; - skos:exactMatch HGNC_symbol:ELOVL5 ; + skos:exactMatch UMLS:C1427485, + HGNC:21308, + HGNC_symbol:ELOVL5 ; biolink:category biolink:Gene . OMIM:611806 a owl:Class ; @@ -297245,56 +309212,59 @@ OMIM:611806 a owl:Class ; IAO:0000142 PMID:11790780, PMID:16407288, PMID:18334919 ; - oboInOwl:hasDbXref UMLS:C1540201 ; oboInOwl:hasExactSynonym "AS3MT", "arsenic (+3 oxidation state) methyltransferase", "cyt19", "s-adenosyl-l-methionine:arsenic(iii) methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57412 ; - skos:exactMatch HGNC_symbol:AS3MT ; + skos:exactMatch UMLS:C1540201, + HGNC:17452, + HGNC_symbol:AS3MT ; biolink:category biolink:Gene . OMIM:611807 a owl:Class ; rdfs:label "TIPRL" ; IAO:0000142 PMID:11741537, PMID:17384681 ; - oboInOwl:hasDbXref UMLS:C1823282 ; oboInOwl:hasExactSynonym "TIPRL", "protein phosphatase 2a-interacting protein", "tip41, s. cerevisiae, homolog of", "tip41-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:261726 ; - skos:exactMatch HGNC_symbol:TIPRL ; + skos:exactMatch UMLS:C1823282, + HGNC:30231, + HGNC_symbol:TIPRL ; biolink:category biolink:Gene . OMIM:611808 a owl:Class ; rdfs:label "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" ; IAO:0000142 PMID:18203159 ; - oboInOwl:hasDbXref UMLS:C2678494 ; oboInOwl:hasExactSynonym "ETINPH", - "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" . + "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" ; + skos:exactMatch UMLS:C2678494 . OMIM:611809 a owl:Class ; rdfs:label "bestrophinopathy, autosomal recessive" ; IAO:0000142 PMID:18179881, PMID:26720466 ; - oboInOwl:hasDbXref UMLS:C3888198 ; oboInOwl:hasExactSynonym "ARB", "bestrophinopathy, autosomal recessive" ; + skos:exactMatch UMLS:C3888198 ; biolink:category biolink:Disease . OMIM:611810 a owl:Class ; rdfs:label "USHBP1" ; IAO:0000142 PMID:11311560 ; - oboInOwl:hasDbXref UMLS:C1428342 ; oboInOwl:hasExactSynonym "USHBP1", "mutated 1n colon cancer 2", "ush1c-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83878 ; - skos:exactMatch HGNC_symbol:USHBP1 ; + skos:exactMatch UMLS:C1428342, + HGNC:24058, + HGNC_symbol:USHBP1 ; biolink:category biolink:Gene . OMIM:611811 a owl:Class ; @@ -297302,13 +309272,14 @@ OMIM:611811 a owl:Class ; IAO:0000142 PMID:11347906, PMID:12151103, PMID:15607024 ; - oboInOwl:hasDbXref UMLS:C1538183 ; oboInOwl:hasExactSynonym "ZNF333", "kiaa1806", "zinc finger protein 333" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84449 ; - skos:exactMatch HGNC_symbol:ZNF333 ; + skos:exactMatch UMLS:C1538183, + HGNC:15624, + HGNC_symbol:ZNF333 ; biolink:category biolink:Gene . OMIM:611812 a owl:Class ; @@ -297316,10 +309287,10 @@ OMIM:611812 a owl:Class ; IAO:0000142 PMID:15932923, PMID:18179883, PMID:9989404 ; - oboInOwl:hasDbXref UMLS:C2678492 ; oboInOwl:hasExactSynonym "46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs", "SERKAL", "serkal syndrome" ; + skos:exactMatch UMLS:C2678492 ; biolink:category biolink:Disease . OMIM:611813 a owl:Class ; @@ -297330,26 +309301,28 @@ OMIM:611813 a owl:Class ; PMID:30487246 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:618527 ; - oboInOwl:hasDbXref UMLS:C1422635 ; oboInOwl:hasExactSynonym "ELOVL1", "elongation of very long chain fatty acids-like 1", "ssc1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64834 ; - skos:exactMatch HGNC_symbol:ELOVL1 ; + skos:exactMatch UMLS:C1422635, + HGNC:14418, + HGNC_symbol:ELOVL1 ; biolink:category biolink:Gene . OMIM:611814 a owl:Class ; rdfs:label "ELOVL2" ; IAO:0000142 PMID:10791983, PMID:17583696 ; - oboInOwl:hasDbXref UMLS:C1422633 ; oboInOwl:hasExactSynonym "ELOVL2", "elongation of very long chain fatty acids-like 2", "ssc2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54898 ; - skos:exactMatch HGNC_symbol:ELOVL2 ; + skos:exactMatch UMLS:C1422633, + HGNC:14416, + HGNC_symbol:ELOVL2 ; biolink:category biolink:Gene . OMIM:611815 a owl:Class ; @@ -297357,13 +309330,14 @@ OMIM:611815 a owl:Class ; IAO:0000142 PMID:10791983, PMID:14581464, PMID:9395518 ; - oboInOwl:hasDbXref UMLS:C1425264 ; oboInOwl:hasExactSynonym "ELOVL3", "cig30, mouse, homolog of", "elongation of very long chain fatty acids-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83401 ; - skos:exactMatch HGNC_symbol:ELOVL3 ; + skos:exactMatch UMLS:C1425264, + HGNC:18047, + HGNC_symbol:ELOVL3 ; biolink:category biolink:Gene . OMIM:611816 a owl:Class ; @@ -297373,10 +309347,10 @@ OMIM:611816 a owl:Class ; PMID:20683999, PMID:24357613, PMID:25420144 ; - oboInOwl:hasDbXref UMLS:C2678486 ; oboInOwl:hasExactSynonym "TMBTS", "mental retardation, severe, and absent nails of hallux and pollex", "temple-baraitser syndrome" ; + skos:exactMatch UMLS:C2678486 ; biolink:category biolink:Disease . OMIM:611817 a owl:Class ; @@ -297419,13 +309393,14 @@ OMIM:611817 a owl:Class ; PMID:9394807, PMID:9598306, PMID:9683661 ; - oboInOwl:hasDbXref UMLS:C1425775 ; oboInOwl:hasExactSynonym "KLRK1", "killer cell lectin-like receptor, subfamily k, member 1", "nkg2d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22914 ; - skos:exactMatch HGNC_symbol:KLRK1 ; + skos:exactMatch UMLS:C1425775, + HGNC:18788, + HGNC_symbol:KLRK1 ; biolink:category biolink:Gene . OMIM:611818 a owl:Class ; @@ -297433,315 +309408,341 @@ OMIM:611818 a owl:Class ; IAO:0000142 PMID:10220144, PMID:17060380, PMID:17275750 ; - oboInOwl:hasDbXref UMLS:C2678485 ; oboInOwl:hasExactSynonym "LQT9", "long qt syndrome 2/9, digenic", "long qt syndrome 9", "long qt syndrome 9, acquired, susceptibility to" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C2678485 ; biolink:category biolink:Disease . OMIM:611821 a owl:Class ; rdfs:label "MRPL1" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422534 ; oboInOwl:hasExactSynonym "MRPL1", "mitochondrial ribosomal protein l1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65008 ; - skos:exactMatch HGNC_symbol:MRPL1 ; + skos:exactMatch UMLS:C1422534, + HGNC:14275, + HGNC_symbol:MRPL1 ; biolink:category biolink:Gene . OMIM:611822 a owl:Class ; rdfs:label "MRPL2" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422380 ; oboInOwl:hasExactSynonym "MRPL2", "mitochondrial ribosomal protein l2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51069 ; - skos:exactMatch HGNC_symbol:MRPL2 ; + skos:exactMatch UMLS:C1422380, + HGNC:14056, + HGNC_symbol:MRPL2 ; biolink:category biolink:Gene . OMIM:611823 a owl:Class ; rdfs:label "MRPL4" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422535 ; oboInOwl:hasExactSynonym "MRPL4", "mitochondrial ribosomal protein l4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51073 ; - skos:exactMatch HGNC_symbol:MRPL4 ; + skos:exactMatch UMLS:C1422535, + HGNC:14276, + HGNC_symbol:MRPL4 ; biolink:category biolink:Gene . OMIM:611824 a owl:Class ; rdfs:label "MRPL9" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422536 ; oboInOwl:hasExactSynonym "MRPL9", "mitochondrial ribosomal protein l9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65005 ; - skos:exactMatch HGNC_symbol:MRPL9 ; + skos:exactMatch UMLS:C1422536, + HGNC:14277, + HGNC_symbol:MRPL9 ; biolink:category biolink:Gene . OMIM:611825 a owl:Class ; rdfs:label "MRPL10" ; IAO:0000142 PMID:11543634, PMID:9857009 ; - oboInOwl:hasDbXref UMLS:C1422379 ; oboInOwl:hasExactSynonym "MRPL10", "mitochondrial ribosomal protein l10", "mrpl8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124995 ; - skos:exactMatch HGNC_symbol:MRPL10 ; + skos:exactMatch UMLS:C1422379, + HGNC:14055, + HGNC_symbol:MRPL10 ; biolink:category biolink:Gene . OMIM:611826 a owl:Class ; rdfs:label "MRPL11" ; IAO:0000142 PMID:11543634, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1422367 ; oboInOwl:hasExactSynonym "MRPL11", "mitochondrial ribosomal protein l11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65003 ; - skos:exactMatch HGNC_symbol:MRPL11 ; + skos:exactMatch UMLS:C1422367, + HGNC:14042, + HGNC_symbol:MRPL11 ; biolink:category biolink:Gene . OMIM:611827 a owl:Class ; rdfs:label "MRPL14" ; IAO:0000142 PMID:11543634, PMID:9857009 ; - oboInOwl:hasDbXref UMLS:C1422538 ; oboInOwl:hasExactSynonym "MRPL14", "mitochondrial ribosomal protein l14", "mrpl32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64928 ; - skos:exactMatch HGNC_symbol:MRPL14 ; + skos:exactMatch UMLS:C1422538, + HGNC:14279, + HGNC_symbol:MRPL14 ; biolink:category biolink:Gene . OMIM:611828 a owl:Class ; rdfs:label "MRPL15" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422378 ; oboInOwl:hasExactSynonym "MRPL15", "mitochondrial ribosomal protein l15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29088 ; - skos:exactMatch HGNC_symbol:MRPL15 ; + skos:exactMatch UMLS:C1422378, + HGNC:14054, + HGNC_symbol:MRPL15 ; biolink:category biolink:Gene . OMIM:611829 a owl:Class ; rdfs:label "MRPL16" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422682 ; oboInOwl:hasExactSynonym "MRPL16", "mitochondrial ribosomal protein l16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54948 ; - skos:exactMatch HGNC_symbol:MRPL16 ; + skos:exactMatch UMLS:C1422682, + HGNC:14476, + HGNC_symbol:MRPL16 ; biolink:category biolink:Gene . OMIM:611830 a owl:Class ; rdfs:label "MRPL17" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422377 ; oboInOwl:hasExactSynonym "MRPL17", "mitochondrial ribosomal protein l17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63875 ; - skos:exactMatch HGNC_symbol:MRPL17 ; + skos:exactMatch UMLS:C1422377, + HGNC:14053, + HGNC_symbol:MRPL17 ; biolink:category biolink:Gene . OMIM:611831 a owl:Class ; rdfs:label "MRPL18" ; IAO:0000142 PMID:11551941 ; - oboInOwl:hasDbXref UMLS:C1422683 ; oboInOwl:hasExactSynonym "MRPL18", "mitochondrial ribosomal protein l18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29074 ; - skos:exactMatch HGNC_symbol:MRPL18 ; + skos:exactMatch UMLS:C1422683, + HGNC:14477, + HGNC_symbol:MRPL18 ; biolink:category biolink:Gene . OMIM:611832 a owl:Class ; rdfs:label "MRPL19" ; IAO:0000142 PMID:11543634, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1422376 ; oboInOwl:hasExactSynonym "MRPL19", "kiaa0104", "mitochondrial ribosomal protein l19", "mrpl15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9801 ; - skos:exactMatch HGNC_symbol:MRPL19 ; + skos:exactMatch UMLS:C1422376, + HGNC:14052, + HGNC_symbol:MRPL19 ; biolink:category biolink:Gene . OMIM:611833 a owl:Class ; rdfs:label "MRPL20" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422684 ; oboInOwl:hasExactSynonym "MRPL20", "mitochondrial ribosomal protein l20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55052 ; - skos:exactMatch HGNC_symbol:MRPL20 ; + skos:exactMatch UMLS:C1422684, + HGNC:14478, + HGNC_symbol:MRPL20 ; biolink:category biolink:Gene . OMIM:611834 a owl:Class ; rdfs:label "MRPL21" ; IAO:0000142 PMID:11551941 ; - oboInOwl:hasDbXref UMLS:C1422685 ; oboInOwl:hasExactSynonym "MRPL21", "mitochondrial ribosomal protein l21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219927 ; - skos:exactMatch HGNC_symbol:MRPL21 ; + skos:exactMatch UMLS:C1422685, + HGNC:14479, + HGNC_symbol:MRPL21 ; biolink:category biolink:Gene . OMIM:611835 a owl:Class ; rdfs:label "MRPL22" ; IAO:0000142 PMID:11543634, PMID:9857009 ; - oboInOwl:hasDbXref UMLS:C1422686 ; oboInOwl:hasExactSynonym "MRPL22", "mitochondrial ribosomal protein l22", "mrpl25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29093 ; - skos:exactMatch HGNC_symbol:MRPL22 ; + skos:exactMatch UMLS:C1422686, + HGNC:14480, + HGNC_symbol:MRPL22 ; biolink:category biolink:Gene . OMIM:611836 a owl:Class ; rdfs:label "MRPL24" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422366 ; oboInOwl:hasExactSynonym "MRPL24", "mitochondrial ribosomal protein l24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79590 ; - skos:exactMatch HGNC_symbol:MRPL24 ; + skos:exactMatch UMLS:C1422366, + HGNC:14037, + HGNC_symbol:MRPL24 ; biolink:category biolink:Gene . OMIM:611837 a owl:Class ; rdfs:label "MRPL27" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422689 ; oboInOwl:hasExactSynonym "MRPL27", "mitochondrial ribosomal protein l27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51264 ; - skos:exactMatch HGNC_symbol:MRPL27 ; + skos:exactMatch UMLS:C1422689, + HGNC:14483, + HGNC_symbol:MRPL27 ; biolink:category biolink:Gene . OMIM:611838 a owl:Class ; rdfs:label "MRPL30" ; IAO:0000142 PMID:11543634, PMID:9857009 ; - oboInOwl:hasDbXref UMLS:C1422365 ; oboInOwl:hasExactSynonym "MRPL30", "mitochondrial ribosomal protein l30", "mrpl28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51263 ; - skos:exactMatch HGNC_symbol:MRPL30 ; + skos:exactMatch UMLS:C1422365, + HGNC:14036, + HGNC_symbol:MRPL30 ; biolink:category biolink:Gene . OMIM:611839 a owl:Class ; rdfs:label "MRPL32" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422364 ; oboInOwl:hasExactSynonym "MRPL32", "mitochondrial ribosomal protein l32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64983 ; - skos:exactMatch HGNC_symbol:MRPL32 ; + skos:exactMatch UMLS:C1422364, + HGNC:14035, + HGNC_symbol:MRPL32 ; biolink:category biolink:Gene . OMIM:611840 a owl:Class ; rdfs:label "MRPL34" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422694 ; oboInOwl:hasExactSynonym "MRPL34", "mitochondrial ribosomal protein l34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64981 ; - skos:exactMatch HGNC_symbol:MRPL34 ; + skos:exactMatch UMLS:C1422694, + HGNC:14488, + HGNC_symbol:MRPL34 ; biolink:category biolink:Gene . OMIM:611841 a owl:Class ; rdfs:label "MRPL35" ; IAO:0000142 PMID:11551941, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1422695 ; oboInOwl:hasExactSynonym "MRPL35", "mitochondrial ribosomal protein l35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51318 ; - skos:exactMatch HGNC_symbol:MRPL35 ; + skos:exactMatch UMLS:C1422695, + HGNC:14489, + HGNC_symbol:MRPL35 ; biolink:category biolink:Gene . OMIM:611842 a owl:Class ; rdfs:label "MRPL36" ; IAO:0000142 PMID:11543634, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1422696 ; oboInOwl:hasExactSynonym "MRPL36", "mitochondrial ribosomal protein l36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64979 ; - skos:exactMatch HGNC_symbol:MRPL36 ; + skos:exactMatch UMLS:C1422696, + HGNC:14490, + HGNC_symbol:MRPL36 ; biolink:category biolink:Gene . OMIM:611843 a owl:Class ; rdfs:label "MRPL37" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422363 ; oboInOwl:hasExactSynonym "MRPL37", "mitochondrial ribosomal protein l37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51253 ; - skos:exactMatch HGNC_symbol:MRPL37 ; + skos:exactMatch UMLS:C1422363, + HGNC:14034, + HGNC_symbol:MRPL37 ; biolink:category biolink:Gene . OMIM:611844 a owl:Class ; rdfs:label "MRPL38" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422362 ; oboInOwl:hasExactSynonym "MRPL38", "mitochondrial ribosomal protein l38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64978 ; - skos:exactMatch HGNC_symbol:MRPL38 ; + skos:exactMatch UMLS:C1422362, + HGNC:14033, + HGNC_symbol:MRPL38 ; biolink:category biolink:Gene . OMIM:611845 a owl:Class ; rdfs:label "MRPL39" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422361 ; oboInOwl:hasExactSynonym "MRPL39", "mitochondrial ribosomal protein l39", "mrpl5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54148 ; - skos:exactMatch HGNC_symbol:MRPL39 ; + skos:exactMatch UMLS:C1422361, + HGNC:14027, + HGNC_symbol:MRPL39 ; biolink:category biolink:Gene . OMIM:611846 a owl:Class ; rdfs:label "MRPL41" ; IAO:0000142 PMID:11543634, PMID:9857009 ; - oboInOwl:hasDbXref UMLS:C1422698 ; oboInOwl:hasExactSynonym "MRPL41", "mitochondrial ribosomal protein l41", "mrpl27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64975 ; - skos:exactMatch HGNC_symbol:MRPL41 ; + skos:exactMatch UMLS:C1422698, + HGNC:14492, + HGNC_symbol:MRPL41 ; biolink:category biolink:Gene . OMIM:611847 a owl:Class ; @@ -297749,25 +309750,27 @@ OMIM:611847 a owl:Class ; IAO:0000142 PMID:11279123, PMID:11543634, PMID:9857009 ; - oboInOwl:hasDbXref UMLS:C1422699 ; oboInOwl:hasExactSynonym "MRPL42", "mitochondrial ribosomal protein l42", "mrpl31", "mrps32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28977 ; - skos:exactMatch HGNC_symbol:MRPL42 ; + skos:exactMatch UMLS:C1422699, + HGNC:14493, + HGNC_symbol:MRPL42 ; biolink:category biolink:Gene . OMIM:611848 a owl:Class ; rdfs:label "MRPL43" ; IAO:0000142 PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422722 ; oboInOwl:hasExactSynonym "MRPL43", "mitochondrial ribosomal protein l43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84545 ; - skos:exactMatch HGNC_symbol:MRPL43 ; + skos:exactMatch UMLS:C1422722, + HGNC:14517, + HGNC_symbol:MRPL43 ; biolink:category biolink:Gene . OMIM:611849 a owl:Class ; @@ -297776,128 +309779,139 @@ OMIM:611849 a owl:Class ; PMID:23315540 ; RO:0002525 CHR:9606chr2q36.1 ; RO:0003303 OMIM:615395 ; - oboInOwl:hasDbXref UMLS:C1424465 ; oboInOwl:hasExactSynonym "MRPL44", "mitochondrial ribosomal protein l44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65080 ; - skos:exactMatch HGNC_symbol:MRPL44 ; + skos:exactMatch UMLS:C1424465, + HGNC:16650, + HGNC_symbol:MRPL44 ; biolink:category biolink:Gene . OMIM:611850 a owl:Class ; rdfs:label "MRPL45" ; IAO:0000142 PMID:11551941, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1424466 ; oboInOwl:hasExactSynonym "MRPL45", "mitochondrial ribosomal protein l45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84311 ; - skos:exactMatch HGNC_symbol:MRPL45 ; + skos:exactMatch UMLS:C1424466, + HGNC:16651, + HGNC_symbol:MRPL45 ; biolink:category biolink:Gene . OMIM:611851 a owl:Class ; rdfs:label "MRPL46" ; IAO:0000142 PMID:11551941 ; - oboInOwl:hasDbXref UMLS:C1412889 ; oboInOwl:hasExactSynonym "MRPL46", "mitochondrial ribosomal protein l46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26589 ; - skos:exactMatch HGNC_symbol:MRPL46 ; + skos:exactMatch UMLS:C1412889, + HGNC:1192, + HGNC_symbol:MRPL46 ; biolink:category biolink:Gene . OMIM:611852 a owl:Class ; rdfs:label "MRPL47" ; IAO:0000142 PMID:11551941 ; - oboInOwl:hasDbXref UMLS:C1424467 ; oboInOwl:hasExactSynonym "MRPL47", "mitochondrial ribosomal protein l47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57129 ; - skos:exactMatch HGNC_symbol:MRPL47 ; + skos:exactMatch UMLS:C1424467, + HGNC:16652, + HGNC_symbol:MRPL47 ; biolink:category biolink:Gene . OMIM:611853 a owl:Class ; rdfs:label "MRPL48" ; IAO:0000142 PMID:11551941, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1424468 ; oboInOwl:hasExactSynonym "MRPL48", "mitochondrial ribosomal protein l48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51642 ; - skos:exactMatch HGNC_symbol:MRPL48 ; + skos:exactMatch UMLS:C1424468, + HGNC:16653, + HGNC_symbol:MRPL48 ; biolink:category biolink:Gene . OMIM:611854 a owl:Class ; rdfs:label "MRPL50" ; IAO:0000142 PMID:11551941, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1424469 ; oboInOwl:hasExactSynonym "MRPL50", "mitochondrial ribosomal protein l50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54534 ; - skos:exactMatch HGNC_symbol:MRPL50 ; + skos:exactMatch UMLS:C1424469, + HGNC:16654, + HGNC_symbol:MRPL50 ; biolink:category biolink:Gene . OMIM:611855 a owl:Class ; rdfs:label "MRPL51" ; IAO:0000142 PMID:11543634, PMID:11551941 ; - oboInOwl:hasDbXref UMLS:C1422368 ; oboInOwl:hasExactSynonym "MRPL51", "mitochondrial ribosomal protein l51", "mrp64" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51258 ; - skos:exactMatch HGNC_symbol:MRPL51 ; + skos:exactMatch UMLS:C1422368, + HGNC:14044, + HGNC_symbol:MRPL51 ; biolink:category biolink:Gene . OMIM:611856 a owl:Class ; rdfs:label "MRPL52" ; IAO:0000142 PMID:11551941 ; - oboInOwl:hasDbXref UMLS:C1424470 ; oboInOwl:hasExactSynonym "MRPL52", "mitochondrial ribosomal protein l52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122704 ; - skos:exactMatch HGNC_symbol:MRPL52 ; + skos:exactMatch UMLS:C1424470, + HGNC:16655, + HGNC_symbol:MRPL52 ; biolink:category biolink:Gene . OMIM:611857 a owl:Class ; rdfs:label "MRPL53" ; IAO:0000142 PMID:11551941, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1424483 ; oboInOwl:hasExactSynonym "MRPL53", "mitochondrial ribosomal protein l53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116540 ; - skos:exactMatch HGNC_symbol:MRPL53 ; + skos:exactMatch UMLS:C1424483, + HGNC:16684, + HGNC_symbol:MRPL53 ; biolink:category biolink:Gene . OMIM:611858 a owl:Class ; rdfs:label "MRPL54" ; IAO:0000142 PMID:11551941 ; - oboInOwl:hasDbXref UMLS:C1424484 ; oboInOwl:hasExactSynonym "MRPL54", "mitochondrial ribosomal protein l54" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116541 ; - skos:exactMatch HGNC_symbol:MRPL54 ; + skos:exactMatch UMLS:C1424484, + HGNC:16685, + HGNC_symbol:MRPL54 ; biolink:category biolink:Gene . OMIM:611859 a owl:Class ; rdfs:label "MRPL55" ; IAO:0000142 PMID:11551941 ; - oboInOwl:hasDbXref UMLS:C1424485 ; oboInOwl:hasExactSynonym "MRPL55", "mitochondrial ribosomal protein l55" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128308 ; - skos:exactMatch HGNC_symbol:MRPL55 ; + skos:exactMatch UMLS:C1424485, + HGNC:16686, + HGNC_symbol:MRPL55 ; biolink:category biolink:Gene . OMIM:611860 a owl:Class ; @@ -297907,13 +309921,14 @@ OMIM:611860 a owl:Class ; OMIM:611861 a owl:Class ; rdfs:label "ADPGK" ; IAO:0000142 PMID:14975750 ; - oboInOwl:hasDbXref UMLS:C1540190 ; oboInOwl:hasExactSynonym "ADPGK", "adp-dependent glucokinase", "adp-gk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83440 ; - skos:exactMatch HGNC_symbol:ADPGK ; + skos:exactMatch UMLS:C1540190, + HGNC:25250, + HGNC_symbol:ADPGK ; biolink:category biolink:Gene . OMIM:611862 a owl:Class ; @@ -297922,48 +309937,51 @@ OMIM:611862 a owl:Class ; PMID:19180233, PMID:2001132, PMID:6693578 ; - oboInOwl:hasDbXref UMLS:C2676078 ; oboInOwl:hasExactSynonym "WBCQ1", "white blood cell count quantitative trait locus 1" ; + skos:exactMatch UMLS:C2676078 ; biolink:category biolink:Disease . OMIM:611864 a owl:Class ; rdfs:label "ARMC10" ; IAO:0000142 PMID:12839973 ; - oboInOwl:hasDbXref UMLS:C2239904 ; oboInOwl:hasExactSynonym "ARMC10", "armadillo repeat-containing 10", "splicing variant involved 1n hepatocarcinogenesis" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83787 ; - skos:exactMatch HGNC_symbol:ARMC10 ; + skos:exactMatch UMLS:C2239904, + HGNC:21706, + HGNC_symbol:ARMC10 ; biolink:category biolink:Gene . OMIM:611865 a owl:Class ; rdfs:label "L3MBTL2" ; IAO:0000142 PMID:11682070, PMID:14597177 ; - oboInOwl:hasDbXref UMLS:C1425632 ; oboInOwl:hasExactSynonym "L3MBTL2", "l3mbt, drosophila, homolog of, 2", "l3mbt-like 2", "l3mbtl histone methyl-lysine-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83746 ; - skos:exactMatch HGNC_symbol:L3MBTL2 ; + skos:exactMatch UMLS:C1425632, + HGNC:18594, + HGNC_symbol:L3MBTL2 ; biolink:category biolink:Gene . OMIM:611866 a owl:Class ; rdfs:label "RBP5" ; IAO:0000142 PMID:11274389 ; - oboInOwl:hasDbXref UMLS:C1423770 ; oboInOwl:hasExactSynonym "RBP5", "cellular retinol-binding protein 3", "crbpiii", "retinol-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83758 ; - skos:exactMatch HGNC_symbol:RBP5 ; + skos:exactMatch UMLS:C1423770, + HGNC:15847, + HGNC_symbol:RBP5 ; biolink:category biolink:Gene . OMIM:611867 a owl:Class ; @@ -297979,61 +309997,65 @@ OMIM:611867 a owl:Class ; PMID:9326327, PMID:9973528 ; RO:0002525 CHR:9606chr22q11.2 ; - oboInOwl:hasDbXref UMLS:C2678480, - ORPHA:261330 ; oboInOwl:hasExactSynonym "chromosome 22q11.2 deletion syndrome, distal", "distal chromosome 22q11.2 deletion syndrome" ; + skos:exactMatch UMLS:C2678480, + ORPHA:261330 ; biolink:category biolink:Disease . OMIM:611869 a owl:Class ; rdfs:label "RABEP2" ; IAO:0000142 PMID:9524116 ; - oboInOwl:hasDbXref UMLS:C1538772 ; oboInOwl:hasExactSynonym "RABEP2", "rabaptin 5-beta", "rabaptin, rab gtpase-binding effector protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79874 ; - skos:exactMatch HGNC_symbol:RABEP2 ; + skos:exactMatch UMLS:C1538772, + HGNC:24817, + HGNC_symbol:RABEP2 ; biolink:category biolink:Gene . OMIM:611870 a owl:Class ; rdfs:label "CNTLN" ; IAO:0000142 PMID:18086554, PMID:24554434 ; - oboInOwl:hasDbXref UMLS:C1428082 ; oboInOwl:hasExactSynonym "CNTLN", "centlein", "chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54875 ; - skos:exactMatch HGNC_symbol:CNTLN ; + skos:exactMatch UMLS:C1428082, + HGNC:23432, + HGNC_symbol:CNTLN ; biolink:category biolink:Gene . OMIM:611871 a owl:Class ; rdfs:label "FAM82B" ; IAO:0000142 PMID:18070910 ; - oboInOwl:hasDbXref UMLS:C1825159 ; oboInOwl:hasExactSynonym "FAM82B", "family with sequence similarity 82, member B", "regulator of microtubule dynamics 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51115 ; - skos:exactMatch HGNC_symbol:RMDN1 ; + skos:exactMatch UMLS:C1825159, + HGNC:24285, + HGNC_symbol:RMDN1 ; biolink:category biolink:Gene . OMIM:611872 a owl:Class ; rdfs:label "FAM82A1" ; IAO:0000142 PMID:18070910 ; - oboInOwl:hasDbXref UMLS:C1825158 ; oboInOwl:hasExactSynonym "FAM82A1", "family with sequence similarity 82, member a, formerly", "family with sequence similarity 82, member a1", "regulator of microtubule dynamics 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151393 ; - skos:exactMatch HGNC_symbol:RMDN2 ; + skos:exactMatch UMLS:C1825158, + HGNC:26567, + HGNC_symbol:RMDN2 ; biolink:category biolink:Gene . OMIM:611873 a owl:Class ; @@ -298042,14 +310064,15 @@ OMIM:611873 a owl:Class ; PMID:16820967, PMID:18070910, PMID:22131369 ; - oboInOwl:hasDbXref UMLS:C1825160 ; oboInOwl:hasExactSynonym "FAM82A2", "family with sequence similarity 82, member a2", "protein tyrosine phosphatase-interacting protein 51: ptpip51 family with sequence similarity 82, member c, formerly", "regulator of microtubule dynamics 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55177 ; - skos:exactMatch HGNC_symbol:RMDN3 ; + skos:exactMatch UMLS:C1825160, + HGNC:25550, + HGNC_symbol:RMDN3 ; biolink:category biolink:Gene . OMIM:611874 a owl:Class ; @@ -298058,46 +310081,48 @@ OMIM:611874 a owl:Class ; PMID:16547973, PMID:18056703, PMID:9771976 ; - oboInOwl:hasDbXref UMLS:C1826397 ; oboInOwl:hasExactSynonym "NENF", "cell immortalization-related protein 2", "neudesin", "neuron-derived neurotrophic factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29937 ; - skos:exactMatch HGNC_symbol:NENF ; + skos:exactMatch UMLS:C1826397, + HGNC:30384, + HGNC_symbol:NENF ; biolink:category biolink:Gene . OMIM:611875 a owl:Class ; rdfs:label "brugada syndrome 3" ; IAO:0000142 PMID:15655131, PMID:17224476 ; - oboInOwl:hasDbXref UMLS:C2678478 ; oboInOwl:hasExactSynonym "BRGDA3", "brugada syndrome 3" ; rdfs:subClassOf OMIMPS:601144 ; + skos:exactMatch UMLS:C2678478 ; biolink:category biolink:Disease . OMIM:611877 a owl:Class ; rdfs:label "BAIAP2L1" ; IAO:0000142 PMID:14752106, PMID:17430976 ; - oboInOwl:hasDbXref UMLS:C1538314 ; oboInOwl:hasExactSynonym "BAIAP2L1", "bai1-associated protein 2-like 1", "insulin receptor tyrosine kinase substrate" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55971 ; - skos:exactMatch HGNC_symbol:BAIAP2L1 ; + skos:exactMatch UMLS:C1538314, + HGNC:21649, + HGNC_symbol:BAIAP2L1 ; biolink:category biolink:Gene . OMIM:611879 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1z" ; IAO:0000142 PMID:15542288 ; - oboInOwl:hasDbXref UMLS:C2678475 ; oboInOwl:hasExactSynonym "CMD1Z", "cardiomyopathy, dilated, 1z" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C2678475 ; biolink:category biolink:Disease . OMIM:611882 a owl:Class ; @@ -298105,12 +310130,13 @@ OMIM:611882 a owl:Class ; IAO:0000142 PMID:14651967, PMID:17971453, PMID:19150429 ; - oboInOwl:hasDbXref UMLS:C1427954 ; oboInOwl:hasExactSynonym "PNRC2", "proline-rich nuclear receptor coactivator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55629 ; - skos:exactMatch HGNC_symbol:PNRC2 ; + skos:exactMatch UMLS:C1427954, + HGNC:23158, + HGNC_symbol:PNRC2 ; biolink:category biolink:Gene . OMIM:611883 a owl:Class ; @@ -298119,13 +310145,14 @@ OMIM:611883 a owl:Class ; PMID:11313963, PMID:12527204, PMID:17947333 ; - oboInOwl:hasDbXref UMLS:C1412753 ; oboInOwl:hasExactSynonym "BCCIP", "brca2- and cdkn1a-interacting protein", "p21- and cdk-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56647 ; - skos:exactMatch HGNC_symbol:BCCIP ; + skos:exactMatch UMLS:C1412753, + HGNC:978, + HGNC_symbol:BCCIP ; biolink:category biolink:Gene . OMIM:611885 a owl:Class ; @@ -298136,33 +310163,35 @@ OMIM:611885 a owl:Class ; PMID:21455173, PMID:21455180, PMID:21455181 ; - oboInOwl:hasDbXref UMLS:C1822714 ; oboInOwl:hasExactSynonym "SHARPIN", "shank-associated rh domain interactor", "shank-interacting protein-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81858 ; - skos:exactMatch HGNC_symbol:SHARPIN ; + skos:exactMatch UMLS:C1822714, + HGNC:25321, + HGNC_symbol:SHARPIN ; biolink:category biolink:Gene . OMIM:611886 a owl:Class ; rdfs:label "mesomelic dysplasia, camera iia" ; IAO:0000142 PMID:12955769, PMID:18203165 ; - oboInOwl:hasDbXref UMLS:C2678472 ; - oboInOwl:hasExactSynonym "mesomelic dysplasia, camera iia" . + oboInOwl:hasExactSynonym "mesomelic dysplasia, camera iia" ; + skos:exactMatch UMLS:C2678472 . OMIM:611887 a owl:Class ; rdfs:label "UPK3B" ; IAO:0000142 PMID:12446744 ; - oboInOwl:hasDbXref UMLS:C1427559 ; oboInOwl:hasExactSynonym "UPK3B", "p35", "upiiib", "uroplakin 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105375355 ; - skos:exactMatch HGNC_symbol:UPK3B ; + skos:exactMatch UMLS:C1427559, + HGNC:21444, + HGNC_symbol:UPK3B ; biolink:category biolink:Gene . OMIM:611888 a owl:Class ; @@ -298178,25 +310207,27 @@ OMIM:611888 a owl:Class ; PMID:9192842 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:600775 ; - oboInOwl:hasDbXref UMLS:C1333360 ; oboInOwl:hasExactSynonym "ERF", "ets2 repressor factor", "pe2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2077 ; - skos:exactMatch HGNC_symbol:ERF ; + skos:exactMatch UMLS:C1333360, + HGNC:3444, + HGNC_symbol:ERF ; biolink:category biolink:Gene . OMIM:611889 a owl:Class ; rdfs:label "S100PBP" ; IAO:0000142 PMID:15632002 ; - oboInOwl:hasDbXref UMLS:C1826964 ; oboInOwl:hasExactSynonym "S100PBP", "s100p-binding protein", "s100pbpr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64766 ; - skos:exactMatch HGNC_symbol:S100PBP ; + skos:exactMatch UMLS:C1826964, + HGNC:25768, + HGNC_symbol:S100PBP ; biolink:category biolink:Gene . OMIM:611890 a owl:Class ; @@ -298207,10 +310238,10 @@ OMIM:611890 a owl:Class ; PMID:28729373, PMID:28884921, PMID:7821908 ; - oboInOwl:hasDbXref UMLS:C5193016 ; oboInOwl:hasExactSynonym "CAAHD", "congenital arthrogryposis with anterior horn cell disease", "lethal arthrogryposis with anterior horn cell disease, formerly" ; + skos:exactMatch UMLS:C5193016 ; biolink:category biolink:Disease . OMIM:611893 a owl:Class ; @@ -298220,14 +310251,15 @@ OMIM:611893 a owl:Class ; PMID:26573021 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:616763 ; - oboInOwl:hasDbXref UMLS:C1538673 ; oboInOwl:hasExactSynonym "PLEKHG2", "clg", "pleckstrin homology domain- and rhogef domain-containing protein g2", "pleckstrin homology domain-containing protein, family g, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64857 ; - skos:exactMatch HGNC_symbol:PLEKHG2 ; + skos:exactMatch UMLS:C1538673, + HGNC:29515, + HGNC_symbol:PLEKHG2 ; biolink:category biolink:Gene . OMIM:611894 a owl:Class ; @@ -298238,14 +310270,15 @@ OMIM:611894 a owl:Class ; PMID:30804514 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:618618 ; - oboInOwl:hasDbXref UMLS:C1537794 ; oboInOwl:hasExactSynonym "MIR140", "micro RNA 140", "mirn140", "mirna140" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406932 ; - skos:exactMatch HGNC_symbol:MIR140 ; + skos:exactMatch UMLS:C1537794, + HGNC:31527, + HGNC_symbol:MIR140 ; biolink:category biolink:Gene . OMIM:611896 a owl:Class ; @@ -298254,51 +310287,55 @@ OMIM:611896 a owl:Class ; PMID:15854907, PMID:18176563, PMID:18176565 ; - oboInOwl:hasDbXref UMLS:C1826950 ; oboInOwl:hasExactSynonym "RTL1", "paternally expressed gene 11", "retrotransposon-like gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388015 ; - skos:exactMatch HGNC_symbol:RTL1 ; + skos:exactMatch UMLS:C1826950, + HGNC:14665, + HGNC_symbol:RTL1 ; biolink:category biolink:Gene . OMIM:611898 a owl:Class ; rdfs:label "ENGASE" ; IAO:0000142 PMID:12114544 ; - oboInOwl:hasDbXref UMLS:C2681929 ; oboInOwl:hasExactSynonym "ENGASE", "endo-beta-n-acetylglucosaminidase", "flj21865" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64772 ; - skos:exactMatch HGNC_symbol:ENGASE ; + skos:exactMatch UMLS:C2681929, + HGNC:24622, + HGNC_symbol:ENGASE ; biolink:category biolink:Gene . OMIM:611899 a owl:Class ; rdfs:label "MIR203" ; IAO:0000142 PMID:17622355, PMID:18311128 ; - oboInOwl:hasDbXref UMLS:C1537841 ; oboInOwl:hasExactSynonym "MIR203", "micro RNA 203", "mirn203", "mirna203" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406986 ; - skos:exactMatch HGNC_symbol:MIR203A ; + skos:exactMatch UMLS:C1537841, + HGNC:31581, + HGNC_symbol:MIR203A ; biolink:category biolink:Gene . OMIM:611900 a owl:Class ; rdfs:label "MPPE1" ; IAO:0000142 PMID:11978971 ; - oboInOwl:hasDbXref UMLS:C1423889 ; oboInOwl:hasExactSynonym "MPPE1", "metallophosphoesterase 1", "pgap5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65258 ; - skos:exactMatch HGNC_symbol:MPPE1 ; + skos:exactMatch UMLS:C1423889, + HGNC:15988, + HGNC_symbol:MPPE1 ; biolink:category biolink:Gene . OMIM:611901 a owl:Class ; @@ -298311,66 +310348,71 @@ OMIM:611901 a owl:Class ; PMID:33559681 ; RO:0002525 CHR:9606chr1p36.33 ; RO:0003303 OMIM:619216 ; - oboInOwl:hasDbXref UMLS:C1823652 ; oboInOwl:hasExactSynonym "VWA1", "va domain-containing protein 1", "von willebrand factor a domain-containing protein 1", "von willebrand factor a domain-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64856 ; - skos:exactMatch HGNC_symbol:VWA1 ; + skos:exactMatch UMLS:C1823652, + HGNC:30910, + HGNC_symbol:VWA1 ; biolink:category biolink:Gene . OMIM:611902 a owl:Class ; rdfs:label "CCDC136" ; IAO:0000142 PMID:11347906, PMID:15112360 ; - oboInOwl:hasDbXref UMLS:C2240341 ; oboInOwl:hasExactSynonym "CCDC136", "coiled-coil domain-containing protein 136", "kiaa1793", "nag6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64753 ; - skos:exactMatch HGNC_symbol:CCDC136 ; + skos:exactMatch UMLS:C2240341, + HGNC:22225, + HGNC_symbol:CCDC136 ; biolink:category biolink:Gene . OMIM:611903 a owl:Class ; rdfs:label "ZNF649" ; IAO:0000142 PMID:15950191 ; - oboInOwl:hasDbXref UMLS:C1823985 ; oboInOwl:hasExactSynonym "ZNF649", "zinc finger protein 649" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65251 ; - skos:exactMatch HGNC_symbol:ZNF649 ; + skos:exactMatch UMLS:C1823985, + HGNC:25741, + HGNC_symbol:ZNF649 ; biolink:category biolink:Gene . OMIM:611904 a owl:Class ; rdfs:label "PLET1" ; IAO:0000142 PMID:15203209, PMID:18195351 ; - oboInOwl:hasDbXref UMLS:C1428928 ; oboInOwl:hasExactSynonym "PLET1", "chromosome 11 open reading frame 34", "placenta-expressed transcript 1", "placenta-expressed transcript 1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:349633 ; - skos:exactMatch HGNC_symbol:PLET1 ; + skos:exactMatch UMLS:C1428928, + HGNC:30053, + HGNC_symbol:PLET1 ; biolink:category biolink:Gene . OMIM:611905 a owl:Class ; rdfs:label "FNDC4" ; IAO:0000142 PMID:12384288, PMID:27066907 ; - oboInOwl:hasDbXref UMLS:C1426802 ; oboInOwl:hasExactSynonym "FNDC4", "fibronectin iia 3 domain-containing protein 4", "frcp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64838 ; - skos:exactMatch HGNC_symbol:FNDC4 ; + skos:exactMatch UMLS:C1426802, + HGNC:20239, + HGNC_symbol:FNDC4 ; biolink:category biolink:Gene . OMIM:611906 a owl:Class ; @@ -298382,14 +310424,15 @@ OMIM:611906 a owl:Class ; PMID:24052909, PMID:24120943, PMID:30550785 ; - oboInOwl:hasDbXref UMLS:C1426803 ; oboInOwl:hasExactSynonym "FNDC5", "fibronectin iia 3 domain-containing protein 5", "frcp2", "irisin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:252995 ; - skos:exactMatch HGNC_symbol:FNDC5 ; + skos:exactMatch UMLS:C1426803, + HGNC:20240, + HGNC_symbol:FNDC5 ; biolink:category biolink:Gene . OMIM:611908 a owl:Class ; @@ -298401,13 +310444,14 @@ OMIM:611908 a owl:Class ; PMID:23111317 ; RO:0002525 CHR:9606chr3p21.1 ; RO:0003303 OMIM:612015 ; - oboInOwl:hasDbXref UMLS:C1538829 ; oboInOwl:hasExactSynonym "RFT1", "rft1 homolog", "rft1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91869 ; - skos:exactMatch HGNC_symbol:RFT1 ; + skos:exactMatch UMLS:C1538829, + HGNC:30220, + HGNC_symbol:RFT1 ; biolink:category biolink:Gene . OMIM:611909 a owl:Class ; @@ -298416,13 +310460,14 @@ OMIM:611909 a owl:Class ; PMID:19138685, PMID:20493170, PMID:24052261 ; - oboInOwl:hasDbXref UMLS:C1539525 ; oboInOwl:hasExactSynonym "FNDC3B", "factor for adipocyte differentiation 104", "fibronectin iia 3 domain-containing protein 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64778 ; - skos:exactMatch HGNC_symbol:FNDC3B ; + skos:exactMatch UMLS:C1539525, + HGNC:24670, + HGNC_symbol:FNDC3B ; biolink:category biolink:Gene . OMIM:611910 a owl:Class ; @@ -298436,14 +310481,15 @@ OMIM:611910 a owl:Class ; PMID:26376857 ; RO:0002525 CHR:9606chr10q23.31 ; RO:0003303 OMIM:612018 ; - oboInOwl:hasDbXref UMLS:C1427911, - UMLS:C4310859 ; oboInOwl:hasExactSynonym "SLC16A12", "monocarboxylate transporter 12", "solute carrier family 16 (monocarboxylic acid transporter), member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387700 ; - skos:exactMatch HGNC_symbol:SLC16A12 ; + skos:exactMatch UMLS:C1427911, + UMLS:C4310859, + HGNC:23094, + HGNC_symbol:SLC16A12 ; biolink:category biolink:Gene . OMIM:611911 a owl:Class ; @@ -298460,26 +310506,28 @@ OMIM:611911 a owl:Class ; PMID:22125086 ; RO:0002525 CHR:9606chr12q23.3 ; RO:0003303 OMIM:255125 ; - oboInOwl:hasDbXref UMLS:C1825620 ; oboInOwl:hasExactSynonym "ISCU", "iron-sulfur cluster assembly enzyme", "iron-sulfur cluster scaffold, e. coli, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23479 ; - skos:exactMatch HGNC_symbol:ISCU ; + skos:exactMatch UMLS:C1825620, + HGNC:29882, + HGNC_symbol:ISCU ; biolink:category biolink:Gene . OMIM:611912 a owl:Class ; rdfs:label "NUCKS1" ; IAO:0000142 PMID:11298763, PMID:15381070 ; - oboInOwl:hasDbXref UMLS:C1826486 ; oboInOwl:hasExactSynonym "NUCKS1", "nucks", "nuclear casein kinase and cyclin-dependent kinase substrate 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64710 ; - skos:exactMatch HGNC_symbol:NUCKS1 ; + skos:exactMatch UMLS:C1826486, + HGNC:29923, + HGNC_symbol:NUCKS1 ; biolink:category biolink:Gene . OMIM:611913 a owl:Class ; @@ -298512,12 +310560,12 @@ OMIM:611913 a owl:Class ; PMID:21844811, PMID:22596160 ; RO:0002525 CHR:9606chr16p11.2 ; - oboInOwl:hasDbXref UMLS:C3150154, - UMLS:C3552491, - ORPHA:261197 ; oboInOwl:hasExactSynonym "autism, susceptibility to, 14a", "chromosome 16p11.2 deletion syndrome, 593-kb" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C3150154, + UMLS:C3552491, + ORPHA:261197 ; biolink:category biolink:Disease . OMIM:611914 a owl:Class ; @@ -298525,28 +310573,30 @@ OMIM:611914 a owl:Class ; IAO:0000142 PMID:10488076, PMID:11707329, PMID:17147695 ; - oboInOwl:hasDbXref UMLS:C1540076 ; oboInOwl:hasExactSynonym "TSC22D4", "tsc22 domain family, member 4", "tsc22 homologous gene 1", "tsc22-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81628 ; - skos:exactMatch HGNC_symbol:TSC22D4 ; + skos:exactMatch UMLS:C1540076, + HGNC:21696, + HGNC_symbol:TSC22D4 ; biolink:category biolink:Gene . OMIM:611915 a owl:Class ; rdfs:label "VOPP1" ; IAO:0000142 PMID:11916499, PMID:15735698 ; - oboInOwl:hasDbXref UMLS:C2677838 ; oboInOwl:hasExactSynonym "VOPP1", "egfr-coamplified and overexpressed protein", "glioblastoma-amplified secreted protein", "vesicular, overexpressed 1n cancer, prosurvival protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81552 ; - skos:exactMatch HGNC_symbol:VOPP1 ; + skos:exactMatch UMLS:C2677838, + HGNC:34518, + HGNC_symbol:VOPP1 ; biolink:category biolink:Gene . OMIM:611916 a owl:Class ; @@ -298556,14 +310606,15 @@ OMIM:611916 a owl:Class ; PMID:18276594, PMID:24820863, PMID:28073787 ; - oboInOwl:hasDbXref UMLS:C2239306, - UMLS:C5394585 ; oboInOwl:hasExactSynonym "COL6A5", "collagen, iia vi, alpha-5", "collagen, iia xxix, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256076 ; - skos:exactMatch HGNC_symbol:COL6A5 ; + skos:exactMatch UMLS:C2239306, + UMLS:C5394585, + HGNC:26674, + HGNC_symbol:COL6A5 ; biolink:category biolink:Gene . OMIM:611917 a owl:Class ; @@ -298574,14 +310625,15 @@ OMIM:611917 a owl:Class ; PMID:24981860, PMID:28455245, PMID:29563586 ; - oboInOwl:hasDbXref UMLS:C1825637 ; oboInOwl:hasExactSynonym "KDM8", "jumonji domain-containing protein 5", "lysine demethylase 8", "lysine-specific demethylase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79831 ; - skos:exactMatch HGNC_symbol:KDM8 ; + skos:exactMatch UMLS:C1825637, + HGNC:25840, + HGNC_symbol:KDM8 ; biolink:category biolink:Gene . OMIM:611918 a owl:Class ; @@ -298592,7 +310644,6 @@ OMIM:611919 a owl:Class ; rdfs:label "RIOX1" ; IAO:0000142 PMID:14742713, PMID:17308053 ; - oboInOwl:hasDbXref UMLS:C1427214 ; oboInOwl:hasExactSynonym "RIOX1", "chromosome 14 open reading frame 169", "myc-associated protein with jmjc domain", @@ -298600,51 +310651,57 @@ OMIM:611919 a owl:Class ; "ribosomal oxygenase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79697 ; - skos:exactMatch HGNC_symbol:RIOX1 ; + skos:exactMatch UMLS:C1427214, + HGNC:20968, + HGNC_symbol:RIOX1 ; biolink:category biolink:Gene . OMIM:611921 a owl:Class ; rdfs:label "GJB7" ; - oboInOwl:hasDbXref UMLS:C1424488 ; oboInOwl:hasExactSynonym "GJB7", "connexin 25", "gap junction protein, beta-7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375519 ; - skos:exactMatch HGNC_symbol:GJB7 ; + skos:exactMatch UMLS:C1424488, + HGNC:16690, + HGNC_symbol:GJB7 ; biolink:category biolink:Gene . OMIM:611922 a owl:Class ; rdfs:label "GJD4" ; - oboInOwl:hasDbXref UMLS:C2239493 ; oboInOwl:hasExactSynonym "GJD4", "connexin 40.1", "gap junction protein, delta-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219770 ; - skos:exactMatch HGNC_symbol:GJD4 ; + skos:exactMatch UMLS:C2239493, + HGNC:23296, + HGNC_symbol:GJD4 ; biolink:category biolink:Gene . OMIM:611923 a owl:Class ; rdfs:label "GJA9" ; - oboInOwl:hasDbXref UMLS:C1426046 ; oboInOwl:hasExactSynonym "GJA9", "connexin 59", "gap junction protein, alpha-9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81025 ; - skos:exactMatch HGNC_symbol:GJA9 ; + skos:exactMatch UMLS:C1426046, + HGNC:19155, + HGNC_symbol:GJA9 ; biolink:category biolink:Gene . OMIM:611924 a owl:Class ; rdfs:label "GJA10" ; - oboInOwl:hasDbXref UMLS:C2678513 ; oboInOwl:hasExactSynonym "GJA10", "connexin 62", "gap junction protein, alpha-10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84694 ; - skos:exactMatch HGNC_symbol:GJA10 ; + skos:exactMatch UMLS:C2678513, + HGNC:16995, + HGNC_symbol:GJA10 ; biolink:category biolink:Gene . OMIM:611925 a owl:Class ; @@ -298656,8 +310713,6 @@ OMIM:611925 a owl:Class ; PMID:17259707, PMID:18849090, PMID:19876648 ; - oboInOwl:hasDbXref UMLS:C2677835, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "GJC3", "connexin 29", "connexin 30.2", @@ -298666,14 +310721,17 @@ OMIM:611925 a owl:Class ; "gap junction protein, gamma-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:349149 ; - skos:exactMatch HGNC_symbol:GJC3 ; + skos:exactMatch UMLS:C2677835, + UMLS:C2986382, + HGNC:17495, + HGNC_symbol:GJC3 ; biolink:category biolink:Gene . OMIM:611926 a owl:Class ; rdfs:label "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" ; IAO:0000142 PMID:17937424 ; - oboInOwl:hasDbXref UMLS:C3150156 ; oboInOwl:hasExactSynonym "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" ; + skos:exactMatch UMLS:C3150156 ; biolink:category biolink:Disease . OMIM:611927 a owl:Class ; @@ -298687,19 +310745,20 @@ OMIM:611927 a owl:Class ; PMID:22414746 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:130900 ; - oboInOwl:hasDbXref UMLS:C1825168 ; oboInOwl:hasExactSynonym "FAM83H", "family with sequence similarity 83, member h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286077 ; - skos:exactMatch HGNC_symbol:FAM83H ; + skos:exactMatch UMLS:C1825168, + HGNC:24797, + HGNC_symbol:FAM83H ; biolink:category biolink:Gene . OMIM:611929 a owl:Class ; rdfs:label "camptodactyly syndrome, guadalajara, iia 3" ; IAO:0000142 PMID:12401988 ; - oboInOwl:hasDbXref UMLS:C2677809 ; oboInOwl:hasExactSynonym "camptodactyly syndrome, guadalajara, iia 3" ; + skos:exactMatch UMLS:C2677809 ; biolink:category biolink:Disease . OMIM:611930 a owl:Class ; @@ -298707,12 +310766,13 @@ OMIM:611930 a owl:Class ; IAO:0000142 PMID:12364601, PMID:12429849, PMID:18065403 ; - oboInOwl:hasDbXref UMLS:C1825623 ; oboInOwl:hasExactSynonym "ISG20L2", "interferon-stimulated exonuclease gene 20-kd-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81875 ; - skos:exactMatch HGNC_symbol:ISG20L2 ; + skos:exactMatch UMLS:C1825623, + HGNC:25745, + HGNC_symbol:ISG20L2 ; biolink:category biolink:Gene . OMIM:611931 a owl:Class ; @@ -298721,7 +310781,6 @@ OMIM:611931 a owl:Class ; PMID:15560375, PMID:17456047, PMID:18344982 ; - oboInOwl:hasDbXref UMLS:C1424233 ; oboInOwl:hasExactSynonym "PPM1L", "pp2c-epsilon", "ppm1-like", @@ -298730,7 +310789,9 @@ OMIM:611931 a owl:Class ; "protein phosphatase, magnesium/manganese-dependent, 1l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151742 ; - skos:exactMatch HGNC_symbol:PPM1L ; + skos:exactMatch UMLS:C1424233, + HGNC:16381, + HGNC_symbol:PPM1L ; biolink:category biolink:Gene . OMIM:611932 a owl:Class ; @@ -298741,26 +310802,28 @@ OMIM:611932 a owl:Class ; PMID:17766439, PMID:17905743, PMID:18047834 ; - oboInOwl:hasDbXref UMLS:C1823935 ; oboInOwl:hasExactSynonym "CISD1", "cdgsh iron sulfur domain protein 1", "mitochondrial asn-glu-glu-thr (neet)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55847 ; - skos:exactMatch HGNC_symbol:CISD1 ; + skos:exactMatch UMLS:C1823935, + HGNC:30880, + HGNC_symbol:CISD1 ; biolink:category biolink:Gene . OMIM:611933 a owl:Class ; rdfs:label "CISD3" ; IAO:0000142 PMID:17376863, PMID:17584744 ; - oboInOwl:hasDbXref UMLS:C2239301 ; oboInOwl:hasExactSynonym "CISD3", "cdgsh iron sulfur domain protein 3", "mitoneet-related 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284106 ; - skos:exactMatch HGNC_symbol:CISD3 ; + skos:exactMatch UMLS:C2239301, + HGNC:27578, + HGNC_symbol:CISD3 ; biolink:category biolink:Gene . OMIM:611935 a owl:Class ; @@ -298772,44 +310835,45 @@ OMIM:611935 a owl:Class ; PMID:5524089 ; RO:0002525 CHR:9606chr2q23.2 ; RO:0003303 OMIM:277410 ; - oboInOwl:hasDbXref UMLS:C1538998 ; oboInOwl:hasExactSynonym "MMADHC", "chromosome 2 open reading frame 25", "metabolism of cobalamin associated d", "mmadhc gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27249 ; - skos:exactMatch HGNC_symbol:MMADHC ; + skos:exactMatch UMLS:C1538998, + HGNC:25221, + HGNC_symbol:MMADHC ; biolink:category biolink:Gene . OMIM:611936 a owl:Class ; rdfs:label "chromosome 3q29 duplication syndrome" ; IAO:0000142 PMID:18241066 ; RO:0002525 CHR:9606chr3q29 ; - oboInOwl:hasDbXref UMLS:C2749873 ; oboInOwl:hasExactSynonym "chromosome 3q29 duplication syndrome", "microduplication 3q29 syndrome" ; + skos:exactMatch UMLS:C2749873 ; biolink:category biolink:Disease . OMIM:611937 a owl:Class ; rdfs:label "IGHD3-3" ; IAO:0000142 PMID:18064298, PMID:6801764 ; - oboInOwl:hasDbXref UMLS:C1415953 ; oboInOwl:hasExactSynonym "IGHD3-3", "dxp4", "ighd33", "immunoglobulin heavy chain diversity gene 3-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28501 ; - skos:exactMatch HGNC_symbol:IGHD3-3 ; + skos:exactMatch UMLS:C1415953, + HGNC:5498, + HGNC_symbol:IGHD3-3 ; biolink:category biolink:Gene . OMIM:611939 a owl:Class ; rdfs:label "IGHV3-23" ; IAO:0000142 PMID:6801764, PMID:7657830 ; - oboInOwl:hasDbXref UMLS:C1416037 ; oboInOwl:hasExactSynonym "IGHV3-23", "dp47", "ighv323", @@ -298818,7 +310882,9 @@ OMIM:611939 a owl:Class ; "vh26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28442 ; - skos:exactMatch HGNC_symbol:IGHV3-23 ; + skos:exactMatch UMLS:C1416037, + HGNC:5588, + HGNC_symbol:IGHV3-23 ; biolink:category biolink:Gene . OMIM:611940 a owl:Class ; @@ -298827,38 +310893,41 @@ OMIM:611940 a owl:Class ; PMID:18443287, PMID:19503064, PMID:21097901 ; - oboInOwl:hasDbXref UMLS:C1825948 ; oboInOwl:hasExactSynonym "MBOAT4", "ghrelin o-acetyltransferase", "membrane-bound o-acetyltransferase domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:619373 ; - skos:exactMatch HGNC_symbol:MBOAT4 ; + skos:exactMatch UMLS:C1825948, + HGNC:32311, + HGNC_symbol:MBOAT4 ; biolink:category biolink:Gene . OMIM:611941 a owl:Class ; rdfs:label "ATAD2" ; IAO:0000142 PMID:17998543, PMID:20581866 ; - oboInOwl:hasDbXref UMLS:C1428934 ; oboInOwl:hasExactSynonym "ATAD2", "aaa nuclear coregulator, cancer-associated", "atpase family, aaa domain-containing, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29028 ; - skos:exactMatch HGNC_symbol:ATAD2 ; + skos:exactMatch UMLS:C1428934, + HGNC:30123, + HGNC_symbol:ATAD2 ; biolink:category biolink:Gene . OMIM:611946 a owl:Class ; rdfs:label "UBXN6" ; IAO:0000142 PMID:11342112 ; - oboInOwl:hasDbXref UMLS:C1423061 ; oboInOwl:hasExactSynonym "UBXN6", "ubx domain protein 6", "ubx domain-containing gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80700 ; - skos:exactMatch HGNC_symbol:UBXN6 ; + skos:exactMatch UMLS:C1423061, + HGNC:14928, + HGNC_symbol:UBXN6 ; biolink:category biolink:Gene . OMIM:611947 a owl:Class ; @@ -298870,14 +310939,15 @@ OMIM:611947 a owl:Class ; PMID:24867956, PMID:27078069, PMID:28159898 ; - oboInOwl:hasDbXref UMLS:C1826442 ; oboInOwl:hasExactSynonym "NLRX1", "clr11.3", "nlr family member x1", "nod9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79671 ; - skos:exactMatch HGNC_symbol:NLRX1 ; + skos:exactMatch UMLS:C1826442, + HGNC:29890, + HGNC_symbol:NLRX1 ; biolink:category biolink:Gene . OMIM:611948 a owl:Class ; @@ -298887,21 +310957,21 @@ OMIM:611948 a owl:Class ; OMIM:611949 a owl:Class ; rdfs:label "MBOAT2" ; IAO:0000142 PMID:18287005 ; - oboInOwl:hasDbXref UMLS:C1538505 ; oboInOwl:hasExactSynonym "MBOAT2", "lysophosphatidylcholine acyltransferase 4", "membrane-bound o-acyltransferase 2", "membrane-bound o-acyltransferase domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129642 ; - skos:exactMatch HGNC_symbol:MBOAT2 ; + skos:exactMatch UMLS:C1538505, + HGNC:25193, + HGNC_symbol:MBOAT2 ; biolink:category biolink:Gene . OMIM:611950 a owl:Class ; rdfs:label "LPCAT3" ; IAO:0000142 PMID:10446276, PMID:18287005 ; - oboInOwl:hasDbXref UMLS:C1825949 ; oboInOwl:hasExactSynonym "LPCAT3", "lysophosphatidylcholine acyltransferase 3", "membrane-bound o-acyltransferase 5", @@ -298909,7 +310979,9 @@ OMIM:611950 a owl:Class ; "nessy, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10162 ; - skos:exactMatch HGNC_symbol:LPCAT3 ; + skos:exactMatch UMLS:C1825949, + HGNC:30244, + HGNC_symbol:LPCAT3 ; biolink:category biolink:Gene . OMIM:611951 a owl:Class ; @@ -298921,7 +310993,6 @@ OMIM:611951 a owl:Class ; PMID:26092869 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:614175 ; - oboInOwl:hasDbXref UMLS:C2240202 ; oboInOwl:hasExactSynonym "B9D2", "b9 domain-containing protein 2", "involved 1n cilia stability 1", @@ -298929,20 +311000,23 @@ OMIM:611951 a owl:Class ; "stumpy, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80776 ; - skos:exactMatch HGNC_symbol:B9D2 ; + skos:exactMatch UMLS:C2240202, + HGNC:28636, + HGNC_symbol:B9D2 ; biolink:category biolink:Gene . OMIM:611952 a owl:Class ; rdfs:label "VPS28" ; IAO:0000142 PMID:11134028, PMID:18287038 ; - oboInOwl:hasDbXref UMLS:C1425363 ; oboInOwl:hasExactSynonym "VPS28", "vacuolar protein sorting 28, yeast, homolog of", "vps28 subunit of escrt-i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51160 ; - skos:exactMatch HGNC_symbol:VPS28 ; + skos:exactMatch UMLS:C1425363, + HGNC:18178, + HGNC_symbol:VPS28 ; biolink:category biolink:Gene . OMIM:611954 a owl:Class ; @@ -298950,14 +311024,15 @@ OMIM:611954 a owl:Class ; IAO:0000142 PMID:17695719, PMID:18193036, PMID:18227514 ; - oboInOwl:hasDbXref UMLS:C1537894 ; oboInOwl:hasExactSynonym "MIR373", "micro RNA 373", "mirn373", "mirna373" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442918 ; - skos:exactMatch HGNC_symbol:MIR373 ; + skos:exactMatch UMLS:C1537894, + HGNC:31787, + HGNC_symbol:MIR373 ; biolink:category biolink:Gene . OMIM:611955 a owl:Class ; @@ -298969,34 +311044,36 @@ OMIM:611955 a owl:Class ; PMID:18758462, PMID:21576123 ; RO:0002525 CHR:9606chr17q12 ; - oboInOwl:hasDbXref UMLS:C2677773 ; oboInOwl:hasExactSynonym "HPC11", "prostate cancer, hereditary, 11" ; + skos:exactMatch UMLS:C2677773 ; biolink:category biolink:Disease . OMIM:611956 a owl:Class ; rdfs:label "C3ORF52" ; IAO:0000142 PMID:15737651 ; - oboInOwl:hasDbXref UMLS:C1824148 ; oboInOwl:hasExactSynonym "C3ORF52", "chromosome 3 open reading frame 52", "tpa-induced transmembrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79669 ; - skos:exactMatch HGNC_symbol:C3orf52 ; + skos:exactMatch UMLS:C1824148, + HGNC:26255, + HGNC_symbol:C3orf52 ; biolink:category biolink:Gene . OMIM:611957 a owl:Class ; rdfs:label "MIRN378" ; IAO:0000142 PMID:18077375 ; - oboInOwl:hasDbXref UMLS:C1537899 ; oboInOwl:hasExactSynonym "MIRN378", "micro RNA 378", "mir378", "mirna378" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494327 ; - skos:exactMatch HGNC_symbol:MIR378A ; + skos:exactMatch UMLS:C1537899, + HGNC:31871, + HGNC_symbol:MIR378A ; biolink:category biolink:Gene . OMIM:611960 a owl:Class ; @@ -299005,39 +311082,38 @@ OMIM:611960 a owl:Class ; PMID:12065182, PMID:16391567, PMID:18403759 ; - oboInOwl:hasDbXref UMLS:C2677770 ; oboInOwl:hasExactSynonym "ASRT7", "asthma-related traits, susceptibility to, 7" ; + skos:exactMatch UMLS:C2677770 ; biolink:category biolink:Disease . OMIM:611961 a owl:Class ; rdfs:label "stevenson-carey syndrome" ; IAO:0000142 PMID:17764080, PMID:19504608 ; - oboInOwl:hasDbXref UMLS:C2677763 ; - oboInOwl:hasExactSynonym "stevenson-carey syndrome" . + oboInOwl:hasExactSynonym "stevenson-carey syndrome" ; + skos:exactMatch UMLS:C2677763 . OMIM:611962 a owl:Class ; rdfs:label "hunter-macdonald syndrome" ; IAO:0000142 PMID:17972300 ; - oboInOwl:hasDbXref UMLS:C2677745 ; oboInOwl:hasExactSynonym "hunter-macdonald syndrome" ; + skos:exactMatch UMLS:C2677745 ; biolink:category biolink:Disease . OMIM:611963 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:16423998 ; - oboInOwl:hasDbXref UMLS:C2677744 ; oboInOwl:hasExactSynonym "acyl-coa thioesterase 7-like", "loc344967" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344967 ; + skos:exactMatch UMLS:C2677744 ; biolink:category biolink:Gene . OMIM:611964 a owl:Class ; rdfs:label "CYB5B" ; IAO:0000142 PMID:11867265 ; - oboInOwl:hasDbXref UMLS:C1824838 ; oboInOwl:hasExactSynonym "CYB5B", "cypb5m", "cytb5, iia 2", @@ -299045,21 +311121,24 @@ OMIM:611964 a owl:Class ; "outer mitochondrial membrane cytochrome b5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80777 ; - skos:exactMatch HGNC_symbol:CYB5B ; + skos:exactMatch UMLS:C1824838, + HGNC:24374, + HGNC_symbol:CYB5B ; biolink:category biolink:Gene . OMIM:611965 a owl:Class ; rdfs:label "THOC7" ; IAO:0000142 PMID:12951069, PMID:15998806 ; - oboInOwl:hasDbXref UMLS:C1823274 ; oboInOwl:hasExactSynonym "THOC7", "fsap24", "nif3l1-binding protein 1", "tho complex, subunit 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80145 ; - skos:exactMatch HGNC_symbol:THOC7 ; + skos:exactMatch UMLS:C1823274, + HGNC:29874, + HGNC_symbol:THOC7 ; biolink:category biolink:Gene . OMIM:611966 a owl:Class ; @@ -299074,26 +311153,28 @@ OMIM:611966 a owl:Class ; PMID:22549410 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:613192 ; - oboInOwl:hasDbXref UMLS:C2677743 ; oboInOwl:hasExactSynonym "TRAPPC9", "kiaa1882", "nik- and ikbkb-binding protein", "trafficking protein particle complex, subunit 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83696 ; - skos:exactMatch HGNC_symbol:TRAPPC9 ; + skos:exactMatch UMLS:C2677743, + HGNC:30832, + HGNC_symbol:TRAPPC9 ; biolink:category biolink:Gene . OMIM:611967 a owl:Class ; rdfs:label "KLHL8" ; IAO:0000142 PMID:10718198 ; - oboInOwl:hasDbXref UMLS:C1425672 ; oboInOwl:hasExactSynonym "KLHL8", "kelch-like 8", "kiaa1378" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57563 ; - skos:exactMatch HGNC_symbol:KLHL8 ; + skos:exactMatch UMLS:C1425672, + HGNC:18644, + HGNC_symbol:KLHL8 ; biolink:category biolink:Gene . OMIM:611968 a owl:Class ; @@ -299102,7 +311183,6 @@ OMIM:611968 a owl:Class ; PMID:12408968, PMID:18077340, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1424733 ; oboInOwl:hasExactSynonym "CSTF2T", "cleavage stimulation factor, 3-prime pre-rna, subunit 2, 64-kd, tau variant", "cstf2, tau variant", @@ -299111,32 +311191,36 @@ OMIM:611968 a owl:Class ; "tau-cstf64" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23283 ; - skos:exactMatch HGNC_symbol:CSTF2T ; + skos:exactMatch UMLS:C1424733, + HGNC:17086, + HGNC_symbol:CSTF2T ; biolink:category biolink:Gene . OMIM:611969 a owl:Class ; rdfs:label "MOB2" ; IAO:0000142 PMID:11223154 ; - oboInOwl:hasDbXref UMLS:C2677742 ; oboInOwl:hasExactSynonym "MOB2", "hcca2 gene", "mob kinase activator 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81532 ; - skos:exactMatch HGNC_symbol:MOB2 ; + skos:exactMatch UMLS:C2677742, + HGNC:24904, + HGNC_symbol:MOB2 ; biolink:category biolink:Gene . OMIM:611970 a owl:Class ; rdfs:label "NIFK" ; IAO:0000142 PMID:11342549 ; - oboInOwl:hasDbXref UMLS:C1425119 ; oboInOwl:hasExactSynonym "NIFK", "mki67-interacting nucleolar phosphoprotein", "nopp34", "nucleolar protein interacting with the fha domain of mki67" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84365 ; - skos:exactMatch HGNC_symbol:NIFK ; + skos:exactMatch UMLS:C1425119, + HGNC:17838, + HGNC_symbol:NIFK ; biolink:category biolink:Gene . OMIM:611971 a owl:Class ; @@ -299146,36 +311230,39 @@ OMIM:611971 a owl:Class ; PMID:29576219 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:617950 ; - oboInOwl:hasDbXref UMLS:C1422701 ; oboInOwl:hasExactSynonym "MRPS2", "mitochondrial ribosomal protein s2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51116 ; - skos:exactMatch HGNC_symbol:MRPS2 ; + skos:exactMatch UMLS:C1422701, + HGNC:14495, + HGNC_symbol:MRPS2 ; biolink:category biolink:Gene . OMIM:611972 a owl:Class ; rdfs:label "MRPS5" ; IAO:0000142 PMID:11279123, PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422704 ; oboInOwl:hasExactSynonym "MRPS5", "mitochondrial ribosomal protein s5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64969 ; - skos:exactMatch HGNC_symbol:MRPS5 ; + skos:exactMatch UMLS:C1422704, + HGNC:14498, + HGNC_symbol:MRPS5 ; biolink:category biolink:Gene . OMIM:611973 a owl:Class ; rdfs:label "MRPS6" ; IAO:0000142 PMID:11279123, PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422375 ; oboInOwl:hasExactSynonym "MRPS6", "mitochondrial ribosomal protein s6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64968 ; - skos:exactMatch HGNC_symbol:MRPS6 ; + skos:exactMatch UMLS:C1422375, + HGNC:14051, + HGNC_symbol:MRPS6 ; biolink:category biolink:Gene . OMIM:611974 a owl:Class ; @@ -299186,47 +311273,51 @@ OMIM:611974 a owl:Class ; PMID:9063420 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:617872 ; - oboInOwl:hasDbXref UMLS:C1422705 ; oboInOwl:hasExactSynonym "MRPS7", "mitochondrial ribosomal protein s7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51081 ; - skos:exactMatch HGNC_symbol:MRPS7 ; + skos:exactMatch UMLS:C1422705, + HGNC:14499, + HGNC_symbol:MRPS7 ; biolink:category biolink:Gene . OMIM:611975 a owl:Class ; rdfs:label "MRPS9" ; IAO:0000142 PMID:11279123 ; - oboInOwl:hasDbXref UMLS:C1422707 ; oboInOwl:hasExactSynonym "MRPS9", "mitochondrial ribosomal protein s9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64965 ; - skos:exactMatch HGNC_symbol:MRPS9 ; + skos:exactMatch UMLS:C1422707, + HGNC:14501, + HGNC_symbol:MRPS9 ; biolink:category biolink:Gene . OMIM:611976 a owl:Class ; rdfs:label "MRPS10" ; IAO:0000142 PMID:11279123, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1422708 ; oboInOwl:hasExactSynonym "MRPS10", "mitochondrial ribosomal protein s10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55173 ; - skos:exactMatch HGNC_symbol:MRPS10 ; + skos:exactMatch UMLS:C1422708, + HGNC:14502, + HGNC_symbol:MRPS10 ; biolink:category biolink:Gene . OMIM:611977 a owl:Class ; rdfs:label "MRPS11" ; IAO:0000142 PMID:11279123, PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422374 ; oboInOwl:hasExactSynonym "MRPS11", "mitochondrial ribosomal protein s11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64963 ; - skos:exactMatch HGNC_symbol:MRPS11 ; + skos:exactMatch UMLS:C1422374, + HGNC:14050, + HGNC_symbol:MRPS11 ; biolink:category biolink:Gene . OMIM:611978 a owl:Class ; @@ -299236,24 +311327,26 @@ OMIM:611978 a owl:Class ; PMID:30358850 ; RO:0002525 CHR:9606chr1q25.1 ; RO:0003303 OMIM:618378 ; - oboInOwl:hasDbXref UMLS:C1422373 ; oboInOwl:hasExactSynonym "MRPS14", "mitochondrial ribosomal protein s14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63931 ; - skos:exactMatch HGNC_symbol:MRPS14 ; + skos:exactMatch UMLS:C1422373, + HGNC:14049, + HGNC_symbol:MRPS14 ; biolink:category biolink:Gene . OMIM:611979 a owl:Class ; rdfs:label "MRPS15" ; IAO:0000142 PMID:11279123, PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422710 ; oboInOwl:hasExactSynonym "MRPS15", "mitochondrial ribosomal protein s15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64960 ; - skos:exactMatch HGNC_symbol:MRPS15 ; + skos:exactMatch UMLS:C1422710, + HGNC:14504, + HGNC_symbol:MRPS15 ; biolink:category biolink:Gene . OMIM:611980 a owl:Class ; @@ -299261,51 +311354,55 @@ OMIM:611980 a owl:Class ; IAO:0000142 PMID:11279123, PMID:11543634, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1422371 ; oboInOwl:hasExactSynonym "MRPS17", "mitochondrial ribosomal protein s17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51373 ; - skos:exactMatch HGNC_symbol:MRPS17 ; + skos:exactMatch UMLS:C1422371, + HGNC:14047, + HGNC_symbol:MRPS17 ; biolink:category biolink:Gene . OMIM:611981 a owl:Class ; rdfs:label "MRPS18A" ; IAO:0000142 PMID:11279123, PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422720 ; oboInOwl:hasExactSynonym "MRPS18A", "mitochondrial ribosomal protein s18a", "mrps18-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55168 ; - skos:exactMatch HGNC_symbol:MRPS18A ; + skos:exactMatch UMLS:C1422720, + HGNC:14515, + HGNC_symbol:MRPS18A ; biolink:category biolink:Gene . OMIM:611982 a owl:Class ; rdfs:label "MRPS18B" ; IAO:0000142 PMID:11279123, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1422721 ; oboInOwl:hasExactSynonym "MRPS18B", "mitochondrial ribosomal protein s18b", "mrps18-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28973 ; - skos:exactMatch HGNC_symbol:MRPS18B ; + skos:exactMatch UMLS:C1422721, + HGNC:14516, + HGNC_symbol:MRPS18B ; biolink:category biolink:Gene . OMIM:611983 a owl:Class ; rdfs:label "MRPS18C" ; IAO:0000142 PMID:11279123, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1424453 ; oboInOwl:hasExactSynonym "MRPS18C", "mitochondrial ribosomal protein s18c", "mrps18-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51023 ; - skos:exactMatch HGNC_symbol:MRPS18C ; + skos:exactMatch UMLS:C1424453, + HGNC:16633, + HGNC_symbol:MRPS18C ; biolink:category biolink:Gene . OMIM:611984 a owl:Class ; @@ -299313,12 +311410,13 @@ OMIM:611984 a owl:Class ; IAO:0000142 PMID:11279123, PMID:11543634, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1422370 ; oboInOwl:hasExactSynonym "MRPS21", "mitochondrial ribosomal protein s21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54460 ; - skos:exactMatch HGNC_symbol:MRPS21 ; + skos:exactMatch UMLS:C1422370, + HGNC:14046, + HGNC_symbol:MRPS21 ; biolink:category biolink:Gene . OMIM:611985 a owl:Class ; @@ -299328,25 +311426,27 @@ OMIM:611985 a owl:Class ; PMID:26741492 ; RO:0002525 CHR:9606chr17q22 ; RO:0003303 OMIM:618952 ; - oboInOwl:hasDbXref UMLS:C1422714, - UMLS:C5436466 ; oboInOwl:hasExactSynonym "MRPS23", "mitochondrial ribosomal protein s23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51649 ; - skos:exactMatch HGNC_symbol:MRPS23 ; + skos:exactMatch UMLS:C1422714, + UMLS:C5436466, + HGNC:14509, + HGNC_symbol:MRPS23 ; biolink:category biolink:Gene . OMIM:611986 a owl:Class ; rdfs:label "MRPS24" ; IAO:0000142 PMID:11279123, PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1422715 ; oboInOwl:hasExactSynonym "MRPS24", "mitochondrial ribosomal protein s24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64951 ; - skos:exactMatch HGNC_symbol:MRPS24 ; + skos:exactMatch UMLS:C1422715, + HGNC:14510, + HGNC_symbol:MRPS24 ; biolink:category biolink:Gene . OMIM:611987 a owl:Class ; @@ -299356,13 +311456,14 @@ OMIM:611987 a owl:Class ; PMID:31039582 ; RO:0002525 CHR:9606chr3p25.1 ; RO:0003303 OMIM:619025 ; - oboInOwl:hasDbXref UMLS:C1422716, - UMLS:C5436623 ; oboInOwl:hasExactSynonym "MRPS25", "mitochondrial ribosomal protein s25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64432 ; - skos:exactMatch HGNC_symbol:MRPS25 ; + skos:exactMatch UMLS:C1422716, + UMLS:C5436623, + HGNC:14511, + HGNC_symbol:MRPS25 ; biolink:category biolink:Gene . OMIM:611988 a owl:Class ; @@ -299370,26 +311471,28 @@ OMIM:611988 a owl:Class ; IAO:0000142 PMID:11279123, PMID:11543634, PMID:9857009 ; - oboInOwl:hasDbXref UMLS:C1422369 ; oboInOwl:hasExactSynonym "MRPS26", "mitochondrial ribosomal protein s26", "mrps13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64949 ; - skos:exactMatch HGNC_symbol:MRPS26 ; + skos:exactMatch UMLS:C1422369, + HGNC:14045, + HGNC_symbol:MRPS26 ; biolink:category biolink:Gene . OMIM:611989 a owl:Class ; rdfs:label "MRPS27" ; IAO:0000142 PMID:11279123, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1422717 ; oboInOwl:hasExactSynonym "MRPS27", "kiaa0264", "mitochondrial ribosomal protein s27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23107 ; - skos:exactMatch HGNC_symbol:MRPS27 ; + skos:exactMatch UMLS:C1422717, + HGNC:14512, + HGNC_symbol:MRPS27 ; biolink:category biolink:Gene . OMIM:611990 a owl:Class ; @@ -299400,26 +311503,28 @@ OMIM:611990 a owl:Class ; PMID:30566640 ; RO:0002525 CHR:9606chr8q21.13 ; RO:0003303 OMIM:618958 ; - oboInOwl:hasDbXref UMLS:C1422718, - UMLS:C5436476 ; oboInOwl:hasExactSynonym "MRPS28", "mitochondrial ribosomal protein s28", "mrps35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28957 ; - skos:exactMatch HGNC_symbol:MRPS28 ; + skos:exactMatch UMLS:C1422718, + UMLS:C5436476, + HGNC:14513, + HGNC_symbol:MRPS28 ; biolink:category biolink:Gene . OMIM:611991 a owl:Class ; rdfs:label "MRPS30" ; IAO:0000142 PMID:11279123, PMID:11543634 ; - oboInOwl:hasDbXref UMLS:C1418410 ; oboInOwl:hasExactSynonym "MRPS30", "mitochondrial ribosomal protein s30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10884 ; - skos:exactMatch HGNC_symbol:MRPS30 ; + skos:exactMatch UMLS:C1418410, + HGNC:8769, + HGNC_symbol:MRPS30 ; biolink:category biolink:Gene . OMIM:611992 a owl:Class ; @@ -299427,25 +311532,27 @@ OMIM:611992 a owl:Class ; IAO:0000142 PMID:11279123, PMID:12706105, PMID:8567980 ; - oboInOwl:hasDbXref UMLS:C1424452 ; oboInOwl:hasExactSynonym "MRPS31", "imogen 38", "mitochondrial ribosomal protein s31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10240 ; - skos:exactMatch HGNC_symbol:MRPS31 ; + skos:exactMatch UMLS:C1424452, + HGNC:16632, + HGNC_symbol:MRPS31 ; biolink:category biolink:Gene . OMIM:611993 a owl:Class ; rdfs:label "MRPS33" ; IAO:0000142 PMID:11279123, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1424454 ; oboInOwl:hasExactSynonym "MRPS33", "mitochondrial ribosomal protein s33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51650 ; - skos:exactMatch HGNC_symbol:MRPS33 ; + skos:exactMatch UMLS:C1424454, + HGNC:16634, + HGNC_symbol:MRPS33 ; biolink:category biolink:Gene . OMIM:611994 a owl:Class ; @@ -299456,50 +311563,54 @@ OMIM:611994 a owl:Class ; PMID:28777931 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:617664 ; - oboInOwl:hasDbXref UMLS:C1424441 ; oboInOwl:hasExactSynonym "MRPS34", "mitochondrial ribosomal protein s34", "mrps12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65993 ; - skos:exactMatch HGNC_symbol:MRPS34 ; + skos:exactMatch UMLS:C1424441, + HGNC:16618, + HGNC_symbol:MRPS34 ; biolink:category biolink:Gene . OMIM:611995 a owl:Class ; rdfs:label "MRPS35" ; IAO:0000142 PMID:11279123, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1424455 ; oboInOwl:hasExactSynonym "MRPS35", "mitochondrial ribosomal protein s35", "mrps28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60488 ; - skos:exactMatch HGNC_symbol:MRPS35 ; + skos:exactMatch UMLS:C1424455, + HGNC:16635, + HGNC_symbol:MRPS35 ; biolink:category biolink:Gene . OMIM:611996 a owl:Class ; rdfs:label "MRPS36" ; IAO:0000142 PMID:11279123, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1424451 ; oboInOwl:hasExactSynonym "MRPS36", "mitochondrial ribosomal protein s36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92259 ; - skos:exactMatch HGNC_symbol:MRPS36 ; + skos:exactMatch UMLS:C1424451, + HGNC:16631, + HGNC_symbol:MRPS36 ; biolink:category biolink:Gene . OMIM:611997 a owl:Class ; rdfs:label "MRP63" ; IAO:0000142 PMID:11543634, PMID:12706105 ; - oboInOwl:hasDbXref UMLS:C1422719 ; oboInOwl:hasExactSynonym "MRP63", "mitochondrial ribosomal protein 63" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:78988 ; - skos:exactMatch HGNC_symbol:MRPL57 ; + skos:exactMatch UMLS:C1422719, + HGNC:14514, + HGNC_symbol:MRPL57 ; biolink:category biolink:Gene . OMIM:611998 a owl:Class ; @@ -299508,13 +311619,14 @@ OMIM:611998 a owl:Class ; PMID:16469704 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:619324 ; - oboInOwl:hasDbXref UMLS:C1425826 ; oboInOwl:hasExactSynonym "CREB3L3", "camp response element-binding protein 3-like 3", "crebh" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84699 ; - skos:exactMatch HGNC_symbol:CREB3L3 ; + skos:exactMatch UMLS:C1425826, + HGNC:18855, + HGNC_symbol:CREB3L3 ; biolink:category biolink:Gene . OMIM:611999 a owl:Class ; @@ -299523,20 +311635,20 @@ OMIM:611999 a owl:Class ; PMID:11495908, PMID:12470645, PMID:16148947 ; - oboInOwl:hasDbXref UMLS:C1538767 ; oboInOwl:hasExactSynonym "RAB11FIP4", "kiaa1821", "rab11 family-interacting protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84440 ; - skos:exactMatch HGNC_symbol:RAB11FIP4 ; + skos:exactMatch UMLS:C1538767, + HGNC:30267, + HGNC_symbol:RAB11FIP4 ; biolink:category biolink:Gene . OMIM:612000 a owl:Class ; rdfs:label "TRIM66" ; IAO:0000142 PMID:15322135, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1540070 ; oboInOwl:hasExactSynonym "TRIM66", "kiaa0298", "tif1-delta", @@ -299544,7 +311656,9 @@ OMIM:612000 a owl:Class ; "tripartite motif-containing protein 66" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9866 ; - skos:exactMatch HGNC_symbol:TRIM66 ; + skos:exactMatch UMLS:C1540070, + HGNC:29005, + HGNC_symbol:TRIM66 ; biolink:category biolink:Gene . OMIM:612001 a owl:Class ; @@ -299572,22 +311686,23 @@ OMIM:612001 a owl:Class ; PMID:29395074, PMID:29395075 ; RO:0002525 CHR:9606chr15q13.3 ; - oboInOwl:hasDbXref UMLS:C2677613, - ORPHA:199318 ; oboInOwl:hasExactSynonym "chromosome 15q13.3 deletion syndrome", "chromosome 15q13.3 microdeletion syndrome" ; + skos:exactMatch UMLS:C2677613, + ORPHA:199318 ; biolink:category biolink:Disease . OMIM:612002 a owl:Class ; rdfs:label "DEPDC1" ; IAO:0000142 PMID:17452976 ; - oboInOwl:hasDbXref UMLS:C1427804 ; oboInOwl:hasExactSynonym "DEPDC1", "dep domain-containing protein 1", "flj20354" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55635 ; - skos:exactMatch HGNC_symbol:DEPDC1 ; + skos:exactMatch UMLS:C1427804, + HGNC:22949, + HGNC_symbol:DEPDC1 ; biolink:category biolink:Gene . OMIM:612003 a owl:Class ; @@ -299604,13 +311719,14 @@ OMIM:612003 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:607688 ; - oboInOwl:hasDbXref UMLS:C1420838 ; oboInOwl:hasExactSynonym "GIGYF2", "grb10-interacting gyf protein 2", "kiaa0642" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26058 ; - skos:exactMatch HGNC_symbol:GIGYF2 ; + skos:exactMatch UMLS:C1420838, + HGNC:11960, + HGNC_symbol:GIGYF2 ; biolink:category biolink:Gene . OMIM:612012 a owl:Class ; @@ -299625,7 +311741,6 @@ OMIM:612012 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr14q24.1 ; RO:0003303 OMIM:270700 ; - oboInOwl:hasDbXref UMLS:C1427118 ; oboInOwl:hasExactSynonym "ZFYVE26", "kiaa0321", "spastizin", @@ -299633,7 +311748,9 @@ OMIM:612012 a owl:Class ; "zinc finger fyve domain-containing protein 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23503 ; - skos:exactMatch HGNC_symbol:ZFYVE26 ; + skos:exactMatch UMLS:C1427118, + HGNC:20761, + HGNC_symbol:ZFYVE26 ; biolink:category biolink:Gene . OMIM:612013 a owl:Class ; @@ -299649,17 +311766,18 @@ OMIM:612013 a owl:Class ; PMID:22246503 ; RO:0002525 CHR:9606chr4p15.32 ; RO:0003303 OMIM:612284 ; - oboInOwl:hasDbXref UMLS:C2240338, - UMLS:C2676788, - UMLS:C2676790, - UMLS:C3280898, - UMLS:C5436837 ; oboInOwl:hasExactSynonym "CC2D2A", "coiled-coil and c2 domains-containing protein 2a", "kiaa1345" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57545 ; - skos:exactMatch HGNC_symbol:CC2D2A ; + skos:exactMatch UMLS:C2240338, + UMLS:C2676788, + UMLS:C2676790, + UMLS:C3280898, + UMLS:C5436837, + HGNC:29253, + HGNC_symbol:CC2D2A ; biolink:category biolink:Gene . OMIM:612014 a owl:Class ; @@ -299669,13 +311787,14 @@ OMIM:612014 a owl:Class ; PMID:25492405 ; RO:0002525 CHR:9606chr2q24.3 ; RO:0003303 OMIM:613819 ; - oboInOwl:hasDbXref UMLS:C1540117 ; oboInOwl:hasExactSynonym "TTC21B", "tetratricopeptide repeat domain-containing protein 21b", "tetratricopeptide repeat-containing hedgehog modulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79809 ; - skos:exactMatch HGNC_symbol:TTC21B ; + skos:exactMatch UMLS:C1540117, + HGNC:25660, + HGNC_symbol:TTC21B ; biolink:category biolink:Gene . OMIM:612019 a owl:Class ; @@ -299683,13 +311802,14 @@ OMIM:612019 a owl:Class ; IAO:0000142 PMID:16971476, PMID:18093975, PMID:25701869 ; - oboInOwl:hasDbXref UMLS:C1825625 ; oboInOwl:hasExactSynonym "ISX", "intestine-specific homeobox", "rax-like homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91464 ; - skos:exactMatch HGNC_symbol:ISX ; + skos:exactMatch UMLS:C1825625, + HGNC:28084, + HGNC_symbol:ISX ; biolink:category biolink:Gene . OMIM:612021 a owl:Class ; @@ -299699,32 +311819,33 @@ OMIM:612021 a owl:Class ; PMID:28343629 ; RO:0002525 CHR:9606chr8q21.3 ; RO:0003303 OMIM:617452 ; - oboInOwl:hasDbXref UMLS:C1826523 ; oboInOwl:hasExactSynonym "OTUD6B", "duba5", "otu domain-containing protein 6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51633 ; - skos:exactMatch HGNC_symbol:OTUD6B ; + skos:exactMatch UMLS:C1826523, + HGNC:24281, + HGNC_symbol:OTUD6B ; biolink:category biolink:Gene . OMIM:612022 a owl:Class ; rdfs:label "OTUD1" ; IAO:0000142 PMID:17991829 ; - oboInOwl:hasDbXref UMLS:C1538555 ; oboInOwl:hasExactSynonym "OTUD1", "duba7", "otu domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220213 ; - skos:exactMatch HGNC_symbol:OTUD1 ; + skos:exactMatch UMLS:C1538555, + HGNC:27346, + HGNC_symbol:OTUD1 ; biolink:category biolink:Gene . OMIM:612023 a owl:Class ; rdfs:label "YOD1" ; IAO:0000142 PMID:17991829, PMID:30952814 ; - oboInOwl:hasDbXref UMLS:C1823894 ; oboInOwl:hasExactSynonym "YOD1", "duba8", "otu domain-containing protein 2", @@ -299732,7 +311853,9 @@ OMIM:612023 a owl:Class ; "yod1 otu deubiquitinating enzyme 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55432 ; - skos:exactMatch HGNC_symbol:YOD1 ; + skos:exactMatch UMLS:C1823894, + HGNC:25035, + HGNC_symbol:YOD1 ; biolink:category biolink:Gene . OMIM:612024 a owl:Class ; @@ -299741,7 +311864,6 @@ OMIM:612024 a owl:Class ; PMID:24090792, PMID:29395074, PMID:29395075 ; - oboInOwl:hasDbXref UMLS:C1826524 ; oboInOwl:hasExactSynonym "OTUD7A", "cezanne2", "chromosome 16 open reading frame 15", @@ -299749,7 +311871,9 @@ OMIM:612024 a owl:Class ; "otud7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161725 ; - skos:exactMatch HGNC_symbol:OTUD7A ; + skos:exactMatch UMLS:C1826524, + HGNC:20718, + HGNC_symbol:OTUD7A ; biolink:category biolink:Gene . OMIM:612025 a owl:Class ; @@ -299761,13 +311885,14 @@ OMIM:612025 a owl:Class ; PMID:18765512 ; RO:0002525 CHR:9606chr6q25.1 ; RO:0003303 OMIM:274800 ; - oboInOwl:hasDbXref UMLS:C1825631 ; oboInOwl:hasExactSynonym "IYD", "iodotyrosine dehalogenase 1", "iodotyrosine deiodinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389434 ; - skos:exactMatch HGNC_symbol:IYD ; + skos:exactMatch UMLS:C1825631, + HGNC:21071, + HGNC_symbol:IYD ; biolink:category biolink:Gene . OMIM:612026 a owl:Class ; @@ -299780,14 +311905,15 @@ OMIM:612026 a owl:Class ; PMID:30006060 ; RO:0002525 CHR:9606chr4q25 ; RO:0003303 OMIM:615071 ; - oboInOwl:hasDbXref UMLS:C1825792 ; oboInOwl:hasExactSynonym "LARP7", "la ribonucleoprotein 7, transcriptional regulator", "la ribonucleoprotein domain family, member 7", "ptefb interaction protein for 7sk stability" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51574 ; - skos:exactMatch HGNC_symbol:LARP7 ; + skos:exactMatch UMLS:C1825792, + HGNC:24912, + HGNC_symbol:LARP7 ; biolink:category biolink:Gene . OMIM:612027 a owl:Class ; @@ -299796,25 +311922,27 @@ OMIM:612027 a owl:Class ; PMID:12586822, PMID:17766434, PMID:20016009 ; - oboInOwl:hasDbXref UMLS:C1425726 ; oboInOwl:hasExactSynonym "GRASP", "grp1-associated scaffold protein", "tamalin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160622 ; - skos:exactMatch HGNC_symbol:TAMALIN ; + skos:exactMatch UMLS:C1425726, + HGNC:18707, + HGNC_symbol:TAMALIN ; biolink:category biolink:Gene . OMIM:612028 a owl:Class ; rdfs:label "FITM1" ; IAO:0000142 PMID:18160536 ; - oboInOwl:hasDbXref UMLS:C2677581 ; oboInOwl:hasExactSynonym "FITM1", "fat storage-inducing transmembrane protein 1", "fat-inducing transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161247 ; - skos:exactMatch HGNC_symbol:FITM1 ; + skos:exactMatch UMLS:C2677581, + HGNC:33714, + HGNC_symbol:FITM1 ; biolink:category biolink:Gene . OMIM:612029 a owl:Class ; @@ -299824,14 +311952,15 @@ OMIM:612029 a owl:Class ; PMID:30288795 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:618635 ; - oboInOwl:hasDbXref UMLS:C1424015 ; oboInOwl:hasExactSynonym "FITM2", "chromosome 20 open reading frame 142", "fat storage-inducing transmembrane protein 2", "fat-inducing transcript 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128486 ; - skos:exactMatch HGNC_symbol:FITM2 ; + skos:exactMatch UMLS:C1424015, + HGNC:16135, + HGNC_symbol:FITM2 ; biolink:category biolink:Gene . OMIM:612031 a owl:Class ; @@ -299839,13 +311968,14 @@ OMIM:612031 a owl:Class ; IAO:0000142 PMID:12242034, PMID:16426570, PMID:20398888 ; - oboInOwl:hasDbXref UMLS:C1428338 ; oboInOwl:hasExactSynonym "INHBE", "activin beta-e", "inhibin, beta e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83729 ; - skos:exactMatch HGNC_symbol:INHBE ; + skos:exactMatch UMLS:C1428338, + HGNC:24029, + HGNC_symbol:INHBE ; biolink:category biolink:Gene . OMIM:612032 a owl:Class ; @@ -299855,26 +311985,28 @@ OMIM:612032 a owl:Class ; PMID:21335234, PMID:27647347, PMID:7982580 ; - oboInOwl:hasDbXref UMLS:C2239360 ; oboInOwl:hasExactSynonym "DPY30", "dpy30 histone methyltransferase complex regulatory subunit", "dpy30, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84661 ; - skos:exactMatch HGNC_symbol:DPY30 ; + skos:exactMatch UMLS:C2239360, + HGNC:24590, + HGNC_symbol:DPY30 ; biolink:category biolink:Gene . OMIM:612033 a owl:Class ; rdfs:label "PAGR1" ; IAO:0000142 PMID:17500065 ; - oboInOwl:hasDbXref UMLS:C1540252 ; oboInOwl:hasExactSynonym "PAGR1", "chromosome 16 open reading frame 53", "paxip1-associated glutamate-rich protein 1", "ptip-associated 1 protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79447 ; - skos:exactMatch HGNC_symbol:PAGR1 ; + skos:exactMatch UMLS:C1540252, + HGNC:28707, + HGNC_symbol:PAGR1 ; biolink:category biolink:Gene . OMIM:612034 a owl:Class ; @@ -299886,14 +312018,15 @@ OMIM:612034 a owl:Class ; PMID:9823329 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:617169 ; - oboInOwl:hasDbXref UMLS:C1332100 ; oboInOwl:hasExactSynonym "APC2", "apc-like", "apc2 gene", "apc2 regulator of wnt signaling pathway 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10297 ; - skos:exactMatch HGNC_symbol:APC2 ; + skos:exactMatch UMLS:C1332100, + HGNC:24036, + HGNC_symbol:APC2 ; biolink:category biolink:Gene . OMIM:612035 a owl:Class ; @@ -299905,7 +312038,6 @@ OMIM:612035 a owl:Class ; PMID:25058219 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:615889 ; - oboInOwl:hasDbXref UMLS:C1427250 ; oboInOwl:hasExactSynonym "AARS2", "alanyl-trna synthetase 2", "alanyl-trna synthetase, mitochondrial", @@ -299913,7 +312045,9 @@ OMIM:612035 a owl:Class ; "mt-alars" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57505 ; - skos:exactMatch HGNC_symbol:AARS2 ; + skos:exactMatch UMLS:C1427250, + HGNC:21022, + HGNC_symbol:AARS2 ; biolink:category biolink:Gene . OMIM:612036 a owl:Class ; @@ -299927,15 +312061,16 @@ OMIM:612036 a owl:Class ; PMID:29915213 ; RO:0002525 CHR:9606chr1p32.3 ; RO:0003303 OMIM:618437 ; - oboInOwl:hasDbXref UMLS:C1826544, - UMLS:C5193099 ; oboInOwl:hasExactSynonym "PARS2", "mt-prors", "prolyl-trna synthetase 2", "prolyl-trna synthetase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25973 ; - skos:exactMatch HGNC_symbol:PARS2 ; + skos:exactMatch UMLS:C1826544, + UMLS:C5193099, + HGNC:30563, + HGNC_symbol:PARS2 ; biolink:category biolink:Gene . OMIM:612037 a owl:Class ; @@ -299943,52 +312078,56 @@ OMIM:612037 a owl:Class ; IAO:0000142 PMID:12761501, PMID:18082624, PMID:18213395 ; - oboInOwl:hasDbXref UMLS:C1823782 ; oboInOwl:hasExactSynonym "MUL1", "chromosome 1 open reading frame 166", "mitochondrial ubiquitin ligase activator of nfkb 1", "mulan" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79594 ; - skos:exactMatch HGNC_symbol:MUL1 ; + skos:exactMatch UMLS:C1823782, + HGNC:25762, + HGNC_symbol:MUL1 ; biolink:category biolink:Gene . OMIM:612038 a owl:Class ; rdfs:label "TMED4" ; IAO:0000142 PMID:12761501 ; - oboInOwl:hasDbXref UMLS:C1539985 ; oboInOwl:hasExactSynonym "TMED4", "transmembrane emp24 protein transport domain-containing protein 4", "transmembrane p24 trafficking protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222068 ; - skos:exactMatch HGNC_symbol:TMED4 ; + skos:exactMatch UMLS:C1539985, + HGNC:22301, + HGNC_symbol:TMED4 ; biolink:category biolink:Gene . OMIM:612039 a owl:Class ; rdfs:label "AGPAT7" ; IAO:0000142 PMID:16243729, PMID:18156367 ; - oboInOwl:hasDbXref UMLS:C1826613 ; oboInOwl:hasExactSynonym "1-acylglycerol-3-phosphate o-acyltransferase 7", "AGPAT7", "acyltransferase-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254531 ; - skos:exactMatch HGNC_symbol:LPCAT4 ; + skos:exactMatch UMLS:C1826613, + HGNC:30059, + HGNC_symbol:LPCAT4 ; biolink:category biolink:Gene . OMIM:612040 a owl:Class ; rdfs:label "LPCAT2" ; IAO:0000142 PMID:17182612, PMID:18156367 ; - oboInOwl:hasDbXref UMLS:C1825852 ; oboInOwl:hasExactSynonym "LPCAT2", "acyltransferase-like 1", "lysophosphatidylcholine acyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54947 ; - skos:exactMatch HGNC_symbol:LPCAT2 ; + skos:exactMatch UMLS:C1825852, + HGNC:26032, + HGNC_symbol:LPCAT2 ; biolink:category biolink:Gene . OMIM:612041 a owl:Class ; @@ -300001,20 +312140,20 @@ OMIM:612041 a owl:Class ; PMID:28059716 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:612042 ; - oboInOwl:hasDbXref UMLS:C2239897 ; oboInOwl:hasExactSynonym "RNF212", "ring finger protein 212", "zhp3, c. elegans, homolog of", "zip3-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285498 ; - skos:exactMatch HGNC_symbol:RNF212 ; + skos:exactMatch UMLS:C2239897, + HGNC:27729, + HGNC_symbol:RNF212 ; biolink:category biolink:Gene . OMIM:612043 a owl:Class ; rdfs:label "MIR371A" ; IAO:0000142 PMID:17695719 ; - oboInOwl:hasDbXref UMLS:C1537892 ; oboInOwl:hasExactSynonym "MIR371A", "micro RNA 371a", "mirn371", @@ -300022,20 +312161,23 @@ OMIM:612043 a owl:Class ; "mirna371a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442916 ; - skos:exactMatch HGNC_symbol:MIR371A ; + skos:exactMatch UMLS:C1537892, + HGNC:31785, + HGNC_symbol:MIR371A ; biolink:category biolink:Gene . OMIM:612044 a owl:Class ; rdfs:label "MIRN372" ; IAO:0000142 PMID:17695719 ; - oboInOwl:hasDbXref UMLS:C1537893 ; oboInOwl:hasExactSynonym "MIRN372", "micro RNA 372", "mir372", "mirna372" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442917 ; - skos:exactMatch HGNC_symbol:MIR372 ; + skos:exactMatch UMLS:C1537893, + HGNC:31786, + HGNC_symbol:MIR372 ; biolink:category biolink:Gene . OMIM:612045 a owl:Class ; @@ -300043,14 +312185,15 @@ OMIM:612045 a owl:Class ; IAO:0000142 PMID:11071891, PMID:14654242, PMID:20952387 ; - oboInOwl:hasDbXref UMLS:C1422565 ; oboInOwl:hasExactSynonym "C1QTNF3", "c1q- and tumor necrosis factor-related protein 3", "collagenous repeat-containing sequence, 26-kd protein", "ctrp3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114899 ; - skos:exactMatch HGNC_symbol:C1QTNF3 ; + skos:exactMatch UMLS:C1422565, + HGNC:14326, + HGNC_symbol:C1QTNF3 ; biolink:category biolink:Gene . OMIM:612046 a owl:Class ; @@ -300058,12 +312201,13 @@ OMIM:612046 a owl:Class ; IAO:0000142 PMID:12893818, PMID:14633988, PMID:18194653 ; - oboInOwl:hasDbXref UMLS:C1428277 ; oboInOwl:hasExactSynonym "E2F7", "e2f transcription factor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144455 ; - skos:exactMatch HGNC_symbol:E2F7 ; + skos:exactMatch UMLS:C1428277, + HGNC:23820, + HGNC_symbol:E2F7 ; biolink:category biolink:Gene . OMIM:612047 a owl:Class ; @@ -300071,12 +312215,13 @@ OMIM:612047 a owl:Class ; IAO:0000142 PMID:15722552, PMID:16179649, PMID:18194653 ; - oboInOwl:hasDbXref UMLS:C1825020 ; oboInOwl:hasExactSynonym "E2F8", "e2f transcription factor 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79733 ; - skos:exactMatch HGNC_symbol:E2F8 ; + skos:exactMatch UMLS:C1825020, + HGNC:24727, + HGNC_symbol:E2F8 ; biolink:category biolink:Gene . OMIM:612048 a owl:Class ; @@ -300088,20 +312233,20 @@ OMIM:612048 a owl:Class ; PMID:23812740 ; RO:0002525 CHR:9606chr3p25.1 ; RO:0003303 OMIM:614302 ; - oboInOwl:hasDbXref UMLS:C1540016 ; oboInOwl:hasExactSynonym "TMEM43", "luma", "transmembrane protein 43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79188 ; - skos:exactMatch HGNC_symbol:TMEM43 ; + skos:exactMatch UMLS:C1540016, + HGNC:28472, + HGNC_symbol:TMEM43 ; biolink:category biolink:Gene . OMIM:612049 a owl:Class ; rdfs:label "RIOX2" ; IAO:0000142 PMID:12091391, PMID:15897898 ; - oboInOwl:hasDbXref UMLS:C1426245 ; oboInOwl:hasExactSynonym "RIOX2", "mineral dust-induced gene", "myc-induced nuclear antigen", @@ -300109,7 +312254,9 @@ OMIM:612049 a owl:Class ; "ribosomal oxygenase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84864 ; - skos:exactMatch HGNC_symbol:RIOX2 ; + skos:exactMatch UMLS:C1426245, + HGNC:19441, + HGNC_symbol:RIOX2 ; biolink:category biolink:Gene . OMIM:612050 a owl:Class ; @@ -300117,13 +312264,14 @@ OMIM:612050 a owl:Class ; IAO:0000142 PMID:11042109, PMID:11748237, PMID:20959604 ; - oboInOwl:hasDbXref UMLS:C1425008 ; oboInOwl:hasExactSynonym "NDFIP1", "nedd4 family-interacting protein 1", "nedd4 ww domain-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80762 ; - skos:exactMatch HGNC_symbol:NDFIP1 ; + skos:exactMatch UMLS:C1425008, + HGNC:17592, + HGNC_symbol:NDFIP1 ; biolink:category biolink:Gene . OMIM:612051 a owl:Class ; @@ -300132,13 +312280,14 @@ OMIM:612051 a owl:Class ; PMID:19878914 ; RO:0002525 CHR:9606chr16q21 ; RO:0003303 OMIM:117210 ; - oboInOwl:hasDbXref UMLS:C2677573 ; oboInOwl:hasExactSynonym "BEAN1", "brain-expressed, associated with nedd4", "brain-expressed, associated with nedd4, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146227 ; - skos:exactMatch HGNC_symbol:BEAN1 ; + skos:exactMatch UMLS:C2677573, + HGNC:24160, + HGNC_symbol:BEAN1 ; biolink:category biolink:Gene . OMIM:612053 a owl:Class ; @@ -300148,7 +312297,6 @@ OMIM:612053 a owl:Class ; PMID:27102483, PMID:7835719, PMID:8545129 ; - oboInOwl:hasDbXref UMLS:C1412825 ; oboInOwl:hasExactSynonym "ZFP36L2", "egf response factor 2", "tis11d, mouse, homolog of", @@ -300156,7 +312304,9 @@ OMIM:612053 a owl:Class ; "zinc finger protein 36-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:678 ; - skos:exactMatch HGNC_symbol:ZFP36L2 ; + skos:exactMatch UMLS:C1412825, + HGNC:1108, + HGNC_symbol:ZFP36L2 ; biolink:category biolink:Gene . OMIM:612054 a owl:Class ; @@ -300164,33 +312314,34 @@ OMIM:612054 a owl:Class ; IAO:0000142 PMID:12356739, PMID:18180299, PMID:9447985 ; - oboInOwl:hasDbXref UMLS:C1419755 ; oboInOwl:hasExactSynonym "CNOT9", "ccr4-not transcription complex, subunit 9", "rcd1", "required for cell differentiation 1, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9125 ; - skos:exactMatch HGNC_symbol:CNOT9 ; + skos:exactMatch UMLS:C1419755, + HGNC:10445, + HGNC_symbol:CNOT9 ; biolink:category biolink:Gene . OMIM:612055 a owl:Class ; rdfs:label "RPS27L" ; IAO:0000142 PMID:17057733 ; - oboInOwl:hasDbXref UMLS:C1425541 ; oboInOwl:hasExactSynonym "RPS27L", "ribosomal protein s27-like", "rps27-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51065 ; - skos:exactMatch HGNC_symbol:RPS27L ; + skos:exactMatch UMLS:C1425541, + HGNC:18476, + HGNC_symbol:RPS27L ; biolink:category biolink:Gene . OMIM:612056 a owl:Class ; rdfs:label "GET4" ; IAO:0000142 PMID:18249086, PMID:20676083 ; - oboInOwl:hasDbXref UMLS:C1427699 ; oboInOwl:hasExactSynonym "GET4", "chromosome 7 open reading frame 20", "conserved edge-expressed protein", @@ -300200,41 +312351,44 @@ OMIM:612056 a owl:Class ; "trc35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51608 ; - skos:exactMatch HGNC_symbol:GET4 ; + skos:exactMatch UMLS:C1427699, + HGNC:21690, + HGNC_symbol:GET4 ; biolink:category biolink:Gene . OMIM:612057 a owl:Class ; rdfs:label "SAPCD2" ; IAO:0000142 PMID:17525738 ; - oboInOwl:hasDbXref UMLS:C1538362 ; oboInOwl:hasExactSynonym "SAPCD2", "chromosome 9 open reading frame 140", "p42.3", "suppressor apc domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89958 ; - skos:exactMatch HGNC_symbol:SAPCD2 ; + skos:exactMatch UMLS:C1538362, + HGNC:28055, + HGNC_symbol:SAPCD2 ; biolink:category biolink:Gene . OMIM:612058 a owl:Class ; rdfs:label "SAMM50" ; IAO:0000142 PMID:15644312, PMID:17624330 ; - oboInOwl:hasDbXref UMLS:C1826973 ; oboInOwl:hasExactSynonym "SAMM50", "sam50", "samm50 sorting and assembly machinery component", "sorting and assembly machinery component 50, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25813 ; - skos:exactMatch HGNC_symbol:SAMM50 ; + skos:exactMatch UMLS:C1826973, + HGNC:24276, + HGNC_symbol:SAMM50 ; biolink:category biolink:Gene . OMIM:612059 a owl:Class ; rdfs:label "LARP1" ; IAO:0000142 PMID:10878606, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1825786 ; oboInOwl:hasExactSynonym "LARP1", "kiaa0731", "la ribonucleoprotein 1, translational regulator", @@ -300242,31 +312396,35 @@ OMIM:612059 a owl:Class ; "la-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23367 ; - skos:exactMatch HGNC_symbol:LARP1 ; + skos:exactMatch UMLS:C1825786, + HGNC:29531, + HGNC_symbol:LARP1 ; biolink:category biolink:Gene . OMIM:612060 a owl:Class ; rdfs:label "ZNRF1" ; IAO:0000142 PMID:11427537, PMID:14561866 ; - oboInOwl:hasDbXref UMLS:C1538249 ; oboInOwl:hasExactSynonym "ZNRF1", "nerve injury gene 283", "zinc finger and ring finger protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84937 ; - skos:exactMatch HGNC_symbol:ZNRF1 ; + skos:exactMatch UMLS:C1538249, + HGNC:18452, + HGNC_symbol:ZNRF1 ; biolink:category biolink:Gene . OMIM:612061 a owl:Class ; rdfs:label "ZNRF2" ; IAO:0000142 PMID:14561866 ; - oboInOwl:hasDbXref UMLS:C1538250 ; oboInOwl:hasExactSynonym "ZNRF2", "zinc finger and ring finger protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:223082 ; - skos:exactMatch HGNC_symbol:ZNRF2 ; + skos:exactMatch UMLS:C1538250, + HGNC:22316, + HGNC_symbol:ZNRF2 ; biolink:category biolink:Gene . OMIM:612062 a owl:Class ; @@ -300274,36 +312432,39 @@ OMIM:612062 a owl:Class ; IAO:0000142 PMID:10574461, PMID:22575959, PMID:22895187 ; - oboInOwl:hasDbXref UMLS:C1538251 ; oboInOwl:hasExactSynonym "ZNRF3", "kiaa1133", "zinc finger and ring finger protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84133 ; - skos:exactMatch HGNC_symbol:ZNRF3 ; + skos:exactMatch UMLS:C1538251, + HGNC:18126, + HGNC_symbol:ZNRF3 ; biolink:category biolink:Gene . OMIM:612063 a owl:Class ; rdfs:label "ZNRF4" ; IAO:0000142 PMID:10191088 ; - oboInOwl:hasDbXref UMLS:C1538252 ; oboInOwl:hasExactSynonym "ZNRF4", "spermatid-specific ring zinc finger protein", "zinc finger and ring finger protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148066 ; - skos:exactMatch HGNC_symbol:ZNRF4 ; + skos:exactMatch UMLS:C1538252, + HGNC:17726, + HGNC_symbol:ZNRF4 ; biolink:category biolink:Gene . OMIM:612064 a owl:Class ; rdfs:label "GIGYF1" ; IAO:0000142 PMID:12771153 ; - oboInOwl:hasDbXref UMLS:C2239491 ; oboInOwl:hasExactSynonym "GIGYF1", "grb10-interacting gyf protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64599 ; - skos:exactMatch HGNC_symbol:GIGYF1 ; + skos:exactMatch UMLS:C2239491, + HGNC:9126, + HGNC_symbol:GIGYF1 ; biolink:category biolink:Gene . OMIM:612065 a owl:Class ; @@ -300311,7 +312472,6 @@ OMIM:612065 a owl:Class ; IAO:0000142 PMID:11110709, PMID:16061477, PMID:16809771 ; - oboInOwl:hasDbXref UMLS:C1538586 ; oboInOwl:hasExactSynonym "PARP9", "b-aggressive lymphoma 1", "bal", @@ -300319,45 +312479,50 @@ OMIM:612065 a owl:Class ; "poly(adp-ribose) polymerase family, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83666 ; - skos:exactMatch HGNC_symbol:PARP9 ; + skos:exactMatch UMLS:C1538586, + HGNC:24118, + HGNC_symbol:PARP9 ; biolink:category biolink:Gene . OMIM:612066 a owl:Class ; rdfs:label "PARP15" ; IAO:0000142 PMID:16061477 ; - oboInOwl:hasDbXref UMLS:C1538590 ; oboInOwl:hasExactSynonym "PARP15", "b-aggressive lymphoma 3", "poly(adp-ribose) polymerase 15", "poly(adp-ribose) polymerase family, member 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:165631 ; - skos:exactMatch HGNC_symbol:PARP15 ; + skos:exactMatch UMLS:C1538590, + HGNC:26876, + HGNC_symbol:PARP15 ; biolink:category biolink:Gene . OMIM:612068 a owl:Class ; rdfs:label "PIRT" ; IAO:0000142 PMID:18455988 ; - oboInOwl:hasDbXref UMLS:C2677566 ; oboInOwl:hasExactSynonym "PIRT", "phosphoinositide-interacting regulator of transient receptor potential channels", "phosphoinositide-interacting regulator of trp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644139 ; - skos:exactMatch HGNC_symbol:PIRT ; + skos:exactMatch UMLS:C2677566, + HGNC:37239, + HGNC_symbol:PIRT ; biolink:category biolink:Gene . OMIM:612070 a owl:Class ; rdfs:label "MIRN144" ; IAO:0000142 PMID:18303114 ; - oboInOwl:hasDbXref UMLS:C1537798 ; oboInOwl:hasExactSynonym "MIRN144", "micro RNA 144", "mir144", "mirna144" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406936 ; - skos:exactMatch HGNC_symbol:MIR144 ; + skos:exactMatch UMLS:C1537798, + HGNC:31531, + HGNC_symbol:MIR144 ; biolink:category biolink:Gene . OMIM:612071 a owl:Class ; @@ -300366,26 +312531,28 @@ OMIM:612071 a owl:Class ; PMID:18303114, PMID:20424607, PMID:20448148 ; - oboInOwl:hasDbXref UMLS:C1826031 ; oboInOwl:hasExactSynonym "MIRN451", "micro RNA 451", "mir451", "mirna451" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574411 ; - skos:exactMatch HGNC_symbol:MIR451A ; + skos:exactMatch UMLS:C1826031, + HGNC:32053, + HGNC_symbol:MIR451A ; biolink:category biolink:Gene . OMIM:612072 a owl:Class ; rdfs:label "MIF4GD" ; IAO:0000142 PMID:18025107 ; - oboInOwl:hasDbXref UMLS:C1825994 ; oboInOwl:hasExactSynonym "MIF4GD", "mif4g domain-containing protein", "slbp-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57409 ; - skos:exactMatch HGNC_symbol:MIF4GD ; + skos:exactMatch UMLS:C1825994, + HGNC:24030, + HGNC_symbol:MIF4GD ; biolink:category biolink:Gene . OMIM:612074 a owl:Class ; @@ -300394,12 +312561,13 @@ OMIM:612074 a owl:Class ; PMID:18439547 ; RO:0002525 CHR:9606chr7q32.1 ; RO:0003303 OMIM:612079 ; - oboInOwl:hasDbXref UMLS:C1538793 ; oboInOwl:hasExactSynonym "RBM28", "rna-binding motif protein 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55131 ; - skos:exactMatch HGNC_symbol:RBM28 ; + skos:exactMatch UMLS:C1538793, + HGNC:21863, + HGNC_symbol:RBM28 ; biolink:category biolink:Gene . OMIM:612075 a owl:Class ; @@ -300408,11 +312576,6 @@ OMIM:612075 a owl:Class ; PMID:19138848, PMID:19667227, PMID:30439532 ; - oboInOwl:hasDbXref UMLS:C2749861, - UMLS:C3150172, - ORPHA:254803, - ORPHA:255235, - ORPHA:298 ; oboInOwl:hasExactSynonym "MTDPS8A", "mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy)", "mitochondrial DNA depletion syndrome 8b (mngie type)", @@ -300420,6 +312583,11 @@ OMIM:612075 a owl:Class ; "mitochondrial neurogastrointestinal encephalopathy syndrome, rrm2b-related", "mngie, rrm2b-related" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C2749861, + UMLS:C3150172, + ORPHA:254803, + ORPHA:255235, + ORPHA:298 ; biolink:category biolink:Disease . OMIM:612077 a owl:Class ; @@ -300428,14 +312596,15 @@ OMIM:612077 a owl:Class ; PMID:18308931, PMID:22328083, PMID:24163368 ; - oboInOwl:hasDbXref UMLS:C1537720 ; oboInOwl:hasExactSynonym "MIR22", "micro RNA 22", "mirn22", "mirna22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407004 ; - skos:exactMatch HGNC_symbol:MIR22 ; + skos:exactMatch UMLS:C1537720, + HGNC:31599, + HGNC_symbol:MIR22 ; biolink:category biolink:Gene . OMIM:612078 a owl:Class ; @@ -300449,13 +312618,14 @@ OMIM:612078 a owl:Class ; PMID:7387950 ; RO:0002525 CHR:9606chr16q24.2 ; RO:0003303 OMIM:229200 ; - oboInOwl:hasDbXref UMLS:C1427995 ; oboInOwl:hasExactSynonym "ZNF469", "kiaa1858", "zinc finger protein 469" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84627 ; - skos:exactMatch HGNC_symbol:ZNF469 ; + skos:exactMatch UMLS:C1427995, + HGNC:23216, + HGNC_symbol:ZNF469 ; biolink:category biolink:Gene . OMIM:612080 a owl:Class ; @@ -300464,25 +312634,27 @@ OMIM:612080 a owl:Class ; PMID:2981208 ; RO:0002525 CHR:9606chr5q31.1 ; RO:0003303 OMIM:615159 ; - oboInOwl:hasDbXref UMLS:C1823602 ; oboInOwl:hasExactSynonym "UQCRQ", "qpc", "ubiquinol-cytochrome c reductase, complex 3 subunit vii, 9.5-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27089 ; - skos:exactMatch HGNC_symbol:UQCRQ ; + skos:exactMatch UMLS:C1823602, + HGNC:29594, + HGNC_symbol:UQCRQ ; biolink:category biolink:Gene . OMIM:612081 a owl:Class ; rdfs:label "IL34" ; IAO:0000142 PMID:18467591 ; - oboInOwl:hasDbXref UMLS:C1824430 ; oboInOwl:hasExactSynonym "IL34", "chromosome 16 open reading frame 77", "interleukin 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146433 ; - skos:exactMatch HGNC_symbol:IL34 ; + skos:exactMatch UMLS:C1824430, + HGNC:28529, + HGNC_symbol:IL34 ; biolink:category biolink:Gene . OMIM:612082 a owl:Class ; @@ -300500,14 +312672,15 @@ OMIM:612082 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:617600 ; - oboInOwl:hasDbXref UMLS:C1422489 ; oboInOwl:hasExactSynonym "CIC", "capicua transcriptional repressor", "capicua, drosophila, homolog of", "kiaa0306" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23152 ; - skos:exactMatch HGNC_symbol:CIC ; + skos:exactMatch UMLS:C1422489, + HGNC:14214, + HGNC_symbol:CIC ; biolink:category biolink:Gene . OMIM:612084 a owl:Class ; @@ -300517,14 +312690,15 @@ OMIM:612084 a owl:Class ; PMID:18292224 ; RO:0002525 CHR:9606chr3q29 ; RO:0003303 OMIM:619484 ; - oboInOwl:hasDbXref UMLS:C2677531 ; oboInOwl:hasExactSynonym "SLC51A", "organic solute transporter, alpha", "ost-alpha", "solute carrier family 51, subunit alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200931 ; - skos:exactMatch HGNC_symbol:SLC51A ; + skos:exactMatch UMLS:C2677531, + HGNC:29955, + HGNC_symbol:SLC51A ; biolink:category biolink:Gene . OMIM:612085 a owl:Class ; @@ -300533,25 +312707,27 @@ OMIM:612085 a owl:Class ; PMID:15563450 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:619481 ; - oboInOwl:hasDbXref UMLS:C2677530 ; oboInOwl:hasExactSynonym "SLC51B", "organic solute transporter, beta", "ost-beta", "solute carrier family 51, subunit beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123264 ; - skos:exactMatch HGNC_symbol:SLC51B ; + skos:exactMatch UMLS:C2677530, + HGNC:29956, + HGNC_symbol:SLC51B ; biolink:category biolink:Gene . OMIM:612086 a owl:Class ; rdfs:label "HMSD" ; IAO:0000142 PMID:17409267 ; - oboInOwl:hasDbXref UMLS:C1825518 ; oboInOwl:hasExactSynonym "HMSD", "minor histocompatibility antigen, serpin domain-containing" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284293 ; - skos:exactMatch HGNC_symbol:HMSD ; + skos:exactMatch UMLS:C1825518, + HGNC:23037, + HGNC_symbol:HMSD ; biolink:category biolink:Gene . OMIM:612087 a owl:Class ; @@ -300560,26 +312736,28 @@ OMIM:612087 a owl:Class ; PMID:18550855, PMID:18615019, PMID:23803857 ; - oboInOwl:hasDbXref UMLS:C1539087 ; oboInOwl:hasExactSynonym "CLEC2A", "c-type lectin domain family 2, member a", "keratinocyte-associated c-type lectin", "proliferation-induced lymphocyte-associated receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387836 ; - skos:exactMatch HGNC_symbol:CLEC2A ; + skos:exactMatch UMLS:C1539087, + HGNC:24191, + HGNC_symbol:CLEC2A ; biolink:category biolink:Gene . OMIM:612088 a owl:Class ; rdfs:label "CLEC12A" ; IAO:0000142 PMID:14739280 ; - oboInOwl:hasDbXref UMLS:C1539106 ; oboInOwl:hasExactSynonym "CLEC12A", "c-type lectin domain family 12, member a", "myeloid inhibitory c-type lectin-like receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160364 ; - skos:exactMatch HGNC_symbol:CLEC12A ; + skos:exactMatch UMLS:C1539106, + HGNC:31713, + HGNC_symbol:CLEC12A ; biolink:category biolink:Gene . OMIM:612090 a owl:Class ; @@ -300589,14 +312767,15 @@ OMIM:612090 a owl:Class ; PMID:21926171, PMID:22101765, PMID:25122764 ; - oboInOwl:hasDbXref UMLS:C1537838 ; oboInOwl:hasExactSynonym "MIR200A", "micro RNA 200a", "mirn200a", "mirna200a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406983 ; - skos:exactMatch HGNC_symbol:MIR200A ; + skos:exactMatch UMLS:C1537838, + HGNC:31578, + HGNC_symbol:MIR200A ; biolink:category biolink:Gene . OMIM:612091 a owl:Class ; @@ -300605,14 +312784,15 @@ OMIM:612091 a owl:Class ; PMID:18381893, PMID:21079000, PMID:23765281 ; - oboInOwl:hasDbXref UMLS:C1537839 ; oboInOwl:hasExactSynonym "MIRN200B", "micro RNA 200b", "mir200b", "mirna200b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406984 ; - skos:exactMatch HGNC_symbol:MIR200B ; + skos:exactMatch UMLS:C1537839, + HGNC:31579, + HGNC_symbol:MIR200B ; biolink:category biolink:Gene . OMIM:612092 a owl:Class ; @@ -300621,14 +312801,15 @@ OMIM:612092 a owl:Class ; PMID:18381893, PMID:19665969, PMID:19665978 ; - oboInOwl:hasDbXref UMLS:C1537840 ; oboInOwl:hasExactSynonym "MIR200C", "micro RNA 200c", "mirn200c", "mirna200c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406985 ; - skos:exactMatch HGNC_symbol:MIR200C ; + skos:exactMatch UMLS:C1537840, + HGNC:31580, + HGNC_symbol:MIR200C ; biolink:category biolink:Gene . OMIM:612093 a owl:Class ; @@ -300637,14 +312818,15 @@ OMIM:612093 a owl:Class ; PMID:18381893, PMID:22101765, PMID:25043019 ; - oboInOwl:hasDbXref UMLS:C1537795 ; oboInOwl:hasExactSynonym "MIR141", "micro RNA 141", "mirn141", "mirna141" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406933 ; - skos:exactMatch HGNC_symbol:MIR141 ; + skos:exactMatch UMLS:C1537795, + HGNC:31528, + HGNC_symbol:MIR141 ; biolink:category biolink:Gene . OMIM:612094 a owl:Class ; @@ -300653,32 +312835,33 @@ OMIM:612094 a owl:Class ; PMID:18381893, PMID:21079000, PMID:23765281 ; - oboInOwl:hasDbXref UMLS:C1826022 ; oboInOwl:hasExactSynonym "MIRN429", "micro RNA 429", "mir429", "mirna429" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:554210 ; - skos:exactMatch HGNC_symbol:MIR429 ; + skos:exactMatch UMLS:C1826022, + HGNC:13784, + HGNC_symbol:MIR429 ; biolink:category biolink:Gene . OMIM:612095 a owl:Class ; rdfs:label "retinitis pigmentosa 41" ; IAO:0000142 PMID:10587575, PMID:17605048 ; - oboInOwl:hasDbXref UMLS:C2677516 ; oboInOwl:hasExactSynonym "RP41", "retinal degeneration, autosomal recessive, prominin-related", "retinitis pigmentosa 41" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C2677516 ; biolink:category biolink:Disease . OMIM:612097 a owl:Class ; rdfs:label "deafness, unilateral, with delayed endolymphatic hydrops" ; IAO:0000142 PMID:17497713 ; - oboInOwl:hasDbXref UMLS:C2677512 ; oboInOwl:hasExactSynonym "deafness, unilateral, with delayed endolymphatic hydrops" ; + skos:exactMatch UMLS:C2677512 ; biolink:category biolink:Disease . OMIM:612098 a owl:Class ; @@ -300688,10 +312871,10 @@ OMIM:612098 a owl:Class ; PMID:16267253, PMID:17611253, PMID:18403758 ; - oboInOwl:hasDbXref UMLS:C2677506 ; oboInOwl:hasExactSynonym "CMH11", "cardiomyopathy, familial hypertrophic, 11" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C2677506 ; biolink:category biolink:Disease . OMIM:612101 a owl:Class ; @@ -300699,21 +312882,21 @@ OMIM:612101 a owl:Class ; IAO:0000142 PMID:11923287, PMID:12324459, PMID:18316730 ; - oboInOwl:hasDbXref UMLS:C1826582 ; oboInOwl:hasExactSynonym "PI4K2B", "phosphatidylinositol 4-kinase, iia 2, beta", "phosphatidylinositol 4-kinase, iia ii, beta", "pi4kii-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55300 ; - skos:exactMatch HGNC_symbol:PI4K2B ; + skos:exactMatch UMLS:C1826582, + HGNC:18215, + HGNC_symbol:PI4K2B ; biolink:category biolink:Gene . OMIM:612102 a owl:Class ; rdfs:label "MIRNLET7G" ; IAO:0000142 PMID:12007417, PMID:18308936 ; - oboInOwl:hasDbXref UMLS:C1537919 ; oboInOwl:hasExactSynonym "MIRNLET7G", "let7, c. elegans, homolog of, g", "micro RNA let7g", @@ -300721,31 +312904,35 @@ OMIM:612102 a owl:Class ; "mirna let7g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406890 ; - skos:exactMatch HGNC_symbol:MIRLET7G ; + skos:exactMatch UMLS:C1537919, + HGNC:31485, + HGNC_symbol:MIRLET7G ; biolink:category biolink:Gene . OMIM:612103 a owl:Class ; rdfs:label "OBFC2A" ; IAO:0000142 PMID:18449195 ; - oboInOwl:hasDbXref UMLS:C1826503 ; oboInOwl:hasExactSynonym "OBFC2A", "oligonucleotide/oligosaccharide-binding fold-containing protein 2a", "single-stranded dna-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64859 ; - skos:exactMatch HGNC_symbol:NABP1 ; + skos:exactMatch UMLS:C1826503, + HGNC:26232, + HGNC_symbol:NABP1 ; biolink:category biolink:Gene . OMIM:612104 a owl:Class ; rdfs:label "OBFC2B" ; IAO:0000142 PMID:18449195 ; - oboInOwl:hasDbXref UMLS:C1826504 ; oboInOwl:hasExactSynonym "OBFC2B", "oligonucleotide/oligosaccharide-binding fold-containing protein 2b", "single-stranded dna-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79035 ; - skos:exactMatch HGNC_symbol:NABP2 ; + skos:exactMatch UMLS:C1826504, + HGNC:28412, + HGNC_symbol:NABP2 ; biolink:category biolink:Gene . OMIM:612105 a owl:Class ; @@ -300755,25 +312942,27 @@ OMIM:612105 a owl:Class ; PMID:23418309 ; RO:0002525 CHR:9606chr10q23.31 ; RO:0003303 OMIM:615107 ; - oboInOwl:hasDbXref UMLS:C2677502 ; oboInOwl:hasExactSynonym "KLLN", "killin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100144748 ; - skos:exactMatch HGNC_symbol:KLLN ; + skos:exactMatch UMLS:C2677502, + HGNC:37212, + HGNC_symbol:KLLN ; biolink:category biolink:Gene . OMIM:612106 a owl:Class ; rdfs:label "ZBTB40" ; IAO:0000142 PMID:18445777, PMID:9455484 ; - oboInOwl:hasDbXref UMLS:C1823906 ; oboInOwl:hasExactSynonym "ZBTB40", "kiaa0478", "zinc finger- and btb domain-containing protein 40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9923 ; - skos:exactMatch HGNC_symbol:ZBTB40 ; + skos:exactMatch UMLS:C1823906, + HGNC:29045, + HGNC_symbol:ZBTB40 ; biolink:category biolink:Gene . OMIM:612107 a owl:Class ; @@ -300782,13 +312971,14 @@ OMIM:612107 a owl:Class ; PMID:25180256 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:616063 ; - oboInOwl:hasDbXref UMLS:C1424069 ; oboInOwl:hasExactSynonym "SLC17A9", "chromosome 20 open reading frame 59", "solute carrier family 17 (vesicular nucleotide transporter), member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63910 ; - skos:exactMatch HGNC_symbol:SLC17A9 ; + skos:exactMatch UMLS:C1424069, + HGNC:16192, + HGNC_symbol:SLC17A9 ; biolink:category biolink:Gene . OMIM:612111 a owl:Class ; @@ -300796,39 +312986,42 @@ OMIM:612111 a owl:Class ; IAO:0000142 PMID:10233894, PMID:10644768, PMID:19878437 ; - oboInOwl:hasDbXref UMLS:C1424856 ; oboInOwl:hasExactSynonym "TNFAIP8", "oxi-alpha", "scc-s2", "tumor necrosis factor-alpha-induced protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25816 ; - skos:exactMatch HGNC_symbol:TNFAIP8 ; + skos:exactMatch UMLS:C1424856, + HGNC:17260, + HGNC_symbol:TNFAIP8 ; biolink:category biolink:Gene . OMIM:612112 a owl:Class ; rdfs:label "TNFAIP8L2" ; IAO:0000142 PMID:18455983 ; - oboInOwl:hasDbXref UMLS:C1823458 ; oboInOwl:hasExactSynonym "TNFAIP8L2", "tnfaip8-like 2", "tumor necrosis factor-alpha-induced protein 8-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79626 ; - skos:exactMatch HGNC_symbol:TNFAIP8L2 ; + skos:exactMatch UMLS:C1823458, + HGNC:26277, + HGNC_symbol:TNFAIP8L2 ; biolink:category biolink:Gene . OMIM:612115 a owl:Class ; rdfs:label "ARHGEF3" ; IAO:0000142 PMID:10873612, PMID:12221096 ; - oboInOwl:hasDbXref UMLS:C1412529 ; oboInOwl:hasExactSynonym "ARHGEF3", "rho guanine nucleotide exchange factor 3", "xpln" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50650 ; - skos:exactMatch HGNC_symbol:ARHGEF3 ; + skos:exactMatch UMLS:C1412529, + HGNC:683, + HGNC_symbol:ARHGEF3 ; biolink:category biolink:Gene . OMIM:612116 a owl:Class ; @@ -300839,14 +313032,15 @@ OMIM:612116 a owl:Class ; PMID:32069354, PMID:32130408, PMID:32499641 ; - oboInOwl:hasDbXref UMLS:C1421400 ; oboInOwl:hasExactSynonym "USP22", "kiaa1063", "ubiquitin-specific protease 22", "ubp8, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23326 ; - skos:exactMatch HGNC_symbol:USP22 ; + skos:exactMatch UMLS:C1421400, + HGNC:12621, + HGNC_symbol:USP22 ; biolink:category biolink:Gene . OMIM:612117 a owl:Class ; @@ -300857,27 +313051,29 @@ OMIM:612117 a owl:Class ; PMID:19626115, PMID:19690389, PMID:24855947 ; - oboInOwl:hasDbXref UMLS:C1537797 ; oboInOwl:hasExactSynonym "MIR143", "micro RNA 143", "mirn143", "mirna143" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406935 ; - skos:exactMatch HGNC_symbol:MIR143 ; + skos:exactMatch UMLS:C1537797, + HGNC:31530, + HGNC_symbol:MIR143 ; biolink:category biolink:Gene . OMIM:612118 a owl:Class ; rdfs:label "IQSEC3" ; IAO:0000142 PMID:10470851, PMID:17981261 ; - oboInOwl:hasDbXref UMLS:C1537420 ; oboInOwl:hasExactSynonym "IQSEC3", "iq motif- and sec7 domain-containing protein 3", "kiaa1110" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440073 ; - skos:exactMatch HGNC_symbol:IQSEC3 ; + skos:exactMatch UMLS:C1537420, + HGNC:29193, + HGNC_symbol:IQSEC3 ; biolink:category biolink:Gene . OMIM:612120 a owl:Class ; @@ -300890,14 +313086,15 @@ OMIM:612120 a owl:Class ; PMID:20049731 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:615238 ; - oboInOwl:hasDbXref UMLS:C1538466 ; oboInOwl:hasExactSynonym "CIDEC", "cell death activator cide3", "cell death-inducing dffa-like effector c", "fat-specific protein 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63924 ; - skos:exactMatch HGNC_symbol:CIDEC ; + skos:exactMatch UMLS:C1538466, + HGNC:24229, + HGNC_symbol:CIDEC ; biolink:category biolink:Gene . OMIM:612121 a owl:Class ; @@ -300910,24 +313107,26 @@ OMIM:612121 a owl:Class ; PMID:3757302 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:615024 ; - oboInOwl:hasDbXref UMLS:C1427450 ; oboInOwl:hasExactSynonym "PNPLA1", "patatin-like phospholipase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285848 ; - skos:exactMatch HGNC_symbol:PNPLA1 ; + skos:exactMatch UMLS:C1427450, + HGNC:21246, + HGNC_symbol:PNPLA1 ; biolink:category biolink:Gene . OMIM:612122 a owl:Class ; rdfs:label "PNPLA7" ; IAO:0000142 PMID:16799181 ; - oboInOwl:hasDbXref UMLS:C1826638 ; oboInOwl:hasExactSynonym "PNPLA7", "nte-like 1", "patatin-like phospholipase domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375775 ; - skos:exactMatch HGNC_symbol:PNPLA7 ; + skos:exactMatch UMLS:C1826638, + HGNC:24768, + HGNC_symbol:PNPLA7 ; biolink:category biolink:Gene . OMIM:612123 a owl:Class ; @@ -300938,7 +313137,6 @@ OMIM:612123 a owl:Class ; PMID:25512002 ; RO:0002525 CHR:9606chr7q31.1 ; RO:0003303 OMIM:251950 ; - oboInOwl:hasDbXref UMLS:C1826639 ; oboInOwl:hasExactSynonym "PNPLA8", "ipla2-2", "patatin-like phospholipase domain-containing protein 8", @@ -300946,20 +313144,23 @@ OMIM:612123 a owl:Class ; "pnpla-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50640 ; - skos:exactMatch HGNC_symbol:PNPLA8 ; + skos:exactMatch UMLS:C1826639, + HGNC:28900, + HGNC_symbol:PNPLA8 ; biolink:category biolink:Gene . OMIM:612125 a owl:Class ; rdfs:label "SERTAD3" ; IAO:0000142 PMID:10982866, PMID:17260023 ; - oboInOwl:hasDbXref UMLS:C1425185 ; oboInOwl:hasExactSynonym "SERTAD3", "rpa-binding transactivator 1", "serta domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29946 ; - skos:exactMatch HGNC_symbol:SERTAD3 ; + skos:exactMatch UMLS:C1425185, + HGNC:17931, + HGNC_symbol:SERTAD3 ; biolink:category biolink:Gene . OMIM:612126 a owl:Class ; @@ -300982,7 +313183,6 @@ OMIM:612126 a owl:Class ; PMID:21229316, PMID:26336901, PMID:6707673 ; - oboInOwl:hasDbXref UMLS:C1842534 ; oboInOwl:hasExactSynonym "GLUT1DS2", "dystonia 18", "glut1 deficiency syndrome 2", @@ -300991,30 +313191,33 @@ OMIM:612126 a owl:Class ; "ped with or without epilepsy and/or hemolytic anemia" ; rdfs:subClassOf OMIMPS:128100, OMIMPS:606777 ; + skos:exactMatch UMLS:C1842534 ; biolink:category biolink:Disease . OMIM:612127 a owl:Class ; rdfs:label "HSD17B13" ; IAO:0000142 PMID:17311113 ; - oboInOwl:hasDbXref UMLS:C1425705 ; oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase 13", "HSD17B13", "short-chain dehydrogenase/reductase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345275 ; - skos:exactMatch HGNC_symbol:HSD17B13 ; + skos:exactMatch UMLS:C1425705, + HGNC:18685, + HGNC_symbol:HSD17B13 ; biolink:category biolink:Gene . OMIM:612128 a owl:Class ; rdfs:label "RASL10B" ; IAO:0000142 PMID:17984325 ; - oboInOwl:hasDbXref UMLS:C1428957 ; oboInOwl:hasExactSynonym "RASL10B", "ras-like, family 10, member B", "ras-related protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91608 ; - skos:exactMatch HGNC_symbol:RASL10B ; + skos:exactMatch UMLS:C1428957, + HGNC:30295, + HGNC_symbol:RASL10B ; biolink:category biolink:Gene . OMIM:612129 a owl:Class ; @@ -301023,24 +313226,25 @@ OMIM:612129 a owl:Class ; PMID:17671174, PMID:27316339, PMID:30403776 ; - oboInOwl:hasDbXref UMLS:C1825601 ; oboInOwl:hasExactSynonym "IDO2", "indoleamine 2,3-dioxygenase 2", "indoleamine 2,3-dioxygenase-like 1", "indoleamine-pyrrole 2,3-dioxygenase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:169355 ; - skos:exactMatch HGNC_symbol:IDO2 ; + skos:exactMatch UMLS:C1825601, + HGNC:27269, + HGNC_symbol:IDO2 ; biolink:category biolink:Gene . OMIM:612130 a owl:Class ; rdfs:label "GAEC1" ; IAO:0000142 PMID:17384685 ; - oboInOwl:hasDbXref UMLS:C2677489 ; oboInOwl:hasExactSynonym "GAEC1", "gene amplified 1n esophageal cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126794 ; + skos:exactMatch UMLS:C2677489 ; biolink:category biolink:Gene . OMIM:612131 a owl:Class ; @@ -301048,7 +313252,6 @@ OMIM:612131 a owl:Class ; IAO:0000142 PMID:11294878, PMID:11304534, PMID:15190067 ; - oboInOwl:hasDbXref UMLS:C1424616 ; oboInOwl:hasExactSynonym "3-alpha-hsd", "3-alpha-hydroxysteroid dehydrogenase", "DHRS9", @@ -301058,7 +313261,9 @@ OMIM:612131 a owl:Class ; "short-chain dehydrogenase/reductase family, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10170 ; - skos:exactMatch HGNC_symbol:DHRS9 ; + skos:exactMatch UMLS:C1424616, + HGNC:16888, + HGNC_symbol:DHRS9 ; biolink:category biolink:Gene . OMIM:612133 a owl:Class ; @@ -301067,7 +313272,6 @@ OMIM:612133 a owl:Class ; PMID:15084587, PMID:15273251, PMID:16263792 ; - oboInOwl:hasDbXref UMLS:C2677479 ; oboInOwl:hasExactSynonym "NFE4", "erythroid-specific factor p22-nfe4", "fetal globin activator nfe4", @@ -301076,7 +313280,9 @@ OMIM:612133 a owl:Class ; "transcription factor nfe4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58160 ; - skos:exactMatch HGNC_symbol:NFE4 ; + skos:exactMatch UMLS:C2677479, + HGNC:29902, + HGNC_symbol:NFE4 ; biolink:category biolink:Gene . OMIM:612134 a owl:Class ; @@ -301086,7 +313292,6 @@ OMIM:612134 a owl:Class ; PMID:12788935, PMID:15853773, PMID:17985344 ; - oboInOwl:hasDbXref UMLS:C1825366 ; oboInOwl:hasExactSynonym "GLCE", "c5-epimerase", "d-glucuronyl c5-epimerase", @@ -301096,7 +313301,9 @@ OMIM:612134 a owl:Class ; "kiaa0836" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26035 ; - skos:exactMatch HGNC_symbol:GLCE ; + skos:exactMatch UMLS:C1825366, + HGNC:17855, + HGNC_symbol:GLCE ; biolink:category biolink:Gene . OMIM:612135 a owl:Class ; @@ -301104,24 +313311,26 @@ OMIM:612135 a owl:Class ; IAO:0000142 PMID:11820818, PMID:12801634, PMID:15752768 ; - oboInOwl:hasDbXref UMLS:C1423581 ; oboInOwl:hasExactSynonym "CABYR", "calcium-binding tyrosine phosphorylation-regulated protein", "fibrousheathin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26256 ; - skos:exactMatch HGNC_symbol:CABYR ; + skos:exactMatch UMLS:C1423581, + HGNC:15569, + HGNC_symbol:CABYR ; biolink:category biolink:Gene . OMIM:612136 a owl:Class ; rdfs:label "ECHDC1" ; IAO:0000142 PMID:18326623 ; - oboInOwl:hasDbXref UMLS:C1427578 ; oboInOwl:hasExactSynonym "ECHDC1", "enoyl coenzyme a hydratase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55862 ; - skos:exactMatch HGNC_symbol:ECHDC1 ; + skos:exactMatch UMLS:C1427578, + HGNC:21489, + HGNC_symbol:ECHDC1 ; biolink:category biolink:Gene . OMIM:612137 a owl:Class ; @@ -301129,14 +313338,15 @@ OMIM:612137 a owl:Class ; IAO:0000142 PMID:15813938, PMID:21602803, PMID:25327252 ; - oboInOwl:hasDbXref UMLS:C1427491 ; oboInOwl:hasExactSynonym "RNF146", "dactylidin", "iduna", "ring finger protein 146" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81847 ; - skos:exactMatch HGNC_symbol:RNF146 ; + skos:exactMatch UMLS:C1427491, + HGNC:21336, + HGNC_symbol:RNF146 ; biolink:category biolink:Gene . OMIM:612138 a owl:Class ; @@ -301148,11 +313358,11 @@ OMIM:612138 a owl:Class ; PMID:15681471, PMID:18374450, PMID:7136614 ; - oboInOwl:hasDbXref UMLS:C2677349 ; oboInOwl:hasExactSynonym "EBS5C", "epidermolysis bullosa simplex 5c, with pyloric atresia", "epidermolysis bullosa simplex with pyloric atresia" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C2677349 ; biolink:category biolink:Disease . OMIM:612139 a owl:Class ; @@ -301162,40 +313372,43 @@ OMIM:612139 a owl:Class ; PMID:18334636, PMID:19729658, PMID:22622578 ; - oboInOwl:hasDbXref UMLS:C1427805 ; oboInOwl:hasExactSynonym "PREX2", "dep domain-containing protein 2", "phosphatidylinositol 3,4,5-trisphosphate-dependent rac exchanger 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80243 ; - skos:exactMatch HGNC_symbol:PREX2 ; + skos:exactMatch UMLS:C1427805, + HGNC:22950, + HGNC_symbol:PREX2 ; biolink:category biolink:Gene . OMIM:612140 a owl:Class ; rdfs:label "SEPT14" ; IAO:0000142 PMID:17922164, PMID:23917401 ; - oboInOwl:hasDbXref UMLS:C2239921, - UMLS:C4282397 ; oboInOwl:hasExactSynonym "SEPT14", "sept14/egfr fusion gene", "septin 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:346288 ; - skos:exactMatch HGNC_symbol:SEPTIN14 ; + skos:exactMatch UMLS:C2239921, + UMLS:C4282397, + HGNC:33280, + HGNC_symbol:SEPTIN14 ; biolink:category biolink:Gene . OMIM:612141 a owl:Class ; rdfs:label "EPB41L4A" ; IAO:0000142 PMID:10874211 ; - oboInOwl:hasDbXref UMLS:C1421919 ; oboInOwl:hasExactSynonym "EPB41L4A", "epb41l4", "erythrocyte membrane protein band 4.1-like 4a", "nbl4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64097 ; - skos:exactMatch HGNC_symbol:EPB41L4A ; + skos:exactMatch UMLS:C1421919, + HGNC:13278, + HGNC_symbol:EPB41L4A ; biolink:category biolink:Gene . OMIM:612142 a owl:Class ; @@ -301204,7 +313417,6 @@ OMIM:612142 a owl:Class ; PMID:16039986, PMID:17437991, PMID:25027842 ; - oboInOwl:hasDbXref UMLS:C1537911 ; oboInOwl:hasExactSynonym "MIRLET7A2", "let7, c. elegans, homolog of, a2", "micro RNA let7a2", @@ -301212,14 +313424,15 @@ OMIM:612142 a owl:Class ; "mirnlet7a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406882 ; - skos:exactMatch HGNC_symbol:MIRLET7A2 ; + skos:exactMatch UMLS:C1537911, + HGNC:31477, + HGNC_symbol:MIRLET7A2 ; biolink:category biolink:Gene . OMIM:612143 a owl:Class ; rdfs:label "MIRNLET7A3" ; IAO:0000142 PMID:11679670, PMID:17437991 ; - oboInOwl:hasDbXref UMLS:C1537912 ; oboInOwl:hasExactSynonym "MIRNLET7A3", "let7, c. elegans, homolog of, a3", "micro RNA let7a3", @@ -301227,7 +313440,9 @@ OMIM:612143 a owl:Class ; "mirna let7a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406883 ; - skos:exactMatch HGNC_symbol:MIRLET7A3 ; + skos:exactMatch UMLS:C1537912, + HGNC:31478, + HGNC_symbol:MIRLET7A3 ; biolink:category biolink:Gene . OMIM:612144 a owl:Class ; @@ -301236,7 +313451,6 @@ OMIM:612144 a owl:Class ; PMID:16039986, PMID:17437991, PMID:25027842 ; - oboInOwl:hasDbXref UMLS:C1537914 ; oboInOwl:hasExactSynonym "MIRLET7C", "let7, c. elegans, homolog of, c", "micro RNA let7c", @@ -301244,7 +313458,9 @@ OMIM:612144 a owl:Class ; "mirnlet7c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406885 ; - skos:exactMatch HGNC_symbol:MIRLET7C ; + skos:exactMatch UMLS:C1537914, + HGNC:31480, + HGNC_symbol:MIRLET7C ; biolink:category biolink:Gene . OMIM:612145 a owl:Class ; @@ -301252,7 +313468,6 @@ OMIM:612145 a owl:Class ; IAO:0000142 PMID:11679670, PMID:17437991, PMID:29867223 ; - oboInOwl:hasDbXref UMLS:C1537915 ; oboInOwl:hasExactSynonym "MIRNLET7D", "let7, c. elegans, homolog of, d", "micro RNA let7d", @@ -301260,7 +313475,9 @@ OMIM:612145 a owl:Class ; "mirna let7d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406886 ; - skos:exactMatch HGNC_symbol:MIRLET7D ; + skos:exactMatch UMLS:C1537915, + HGNC:31481, + HGNC_symbol:MIRLET7D ; biolink:category biolink:Gene . OMIM:612146 a owl:Class ; @@ -301268,7 +313485,6 @@ OMIM:612146 a owl:Class ; IAO:0000142 PMID:11679670, PMID:17437991, PMID:22262659 ; - oboInOwl:hasDbXref UMLS:C1537917 ; oboInOwl:hasExactSynonym "MIRLET7F1", "let7, c. elegans, homolog of, f1", "micro RNA let7f1", @@ -301276,20 +313492,23 @@ OMIM:612146 a owl:Class ; "mirnlet7f1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406888 ; - skos:exactMatch HGNC_symbol:MIRLET7F1 ; + skos:exactMatch UMLS:C1537917, + HGNC:31483, + HGNC_symbol:MIRLET7F1 ; biolink:category biolink:Gene . OMIM:612147 a owl:Class ; rdfs:label "MYLK3" ; IAO:0000142 PMID:17885681, PMID:18202317 ; - oboInOwl:hasDbXref UMLS:C2239763 ; oboInOwl:hasExactSynonym "MYLK3", "mlck, cardiac", "myosin light chain kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91807 ; - skos:exactMatch HGNC_symbol:MYLK3 ; + skos:exactMatch UMLS:C2239763, + HGNC:29826, + HGNC_symbol:MYLK3 ; biolink:category biolink:Gene . OMIM:612148 a owl:Class ; @@ -301297,7 +313516,6 @@ OMIM:612148 a owl:Class ; IAO:0000142 PMID:11679670, PMID:12007417, PMID:17437991 ; - oboInOwl:hasDbXref UMLS:C1537920 ; oboInOwl:hasExactSynonym "MIRNLET7I", "let7, c. elegans, homolog of, 1", "micro RNA let7i", @@ -301305,7 +313523,9 @@ OMIM:612148 a owl:Class ; "mirna let7i" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406891 ; - skos:exactMatch HGNC_symbol:MIRLET7I ; + skos:exactMatch UMLS:C1537920, + HGNC:31486, + HGNC_symbol:MIRLET7I ; biolink:category biolink:Gene . OMIM:612149 a owl:Class ; @@ -301317,7 +313537,6 @@ OMIM:612149 a owl:Class ; PMID:17715393, PMID:25205790, PMID:26785492 ; - oboInOwl:hasDbXref UMLS:C1419304 ; oboInOwl:hasExactSynonym "RBFOX2", "fox1, c. elegans, homolog of, 2", "repressor of tamoxifen transcriptional activity", @@ -301326,7 +313545,9 @@ OMIM:612149 a owl:Class ; "rna-binding protein fox1, c. elegans, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23543 ; - skos:exactMatch HGNC_symbol:RBFOX2 ; + skos:exactMatch UMLS:C1419304, + HGNC:9906, + HGNC_symbol:RBFOX2 ; biolink:category biolink:Gene . OMIM:612150 a owl:Class ; @@ -301335,14 +313556,15 @@ OMIM:612150 a owl:Class ; PMID:16039986, PMID:18328430, PMID:24670661 ; - oboInOwl:hasDbXref UMLS:C1537725 ; oboInOwl:hasExactSynonym "MIR25", "micro RNA 25", "mirn25", "mirna25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407014 ; - skos:exactMatch HGNC_symbol:MIR25 ; + skos:exactMatch UMLS:C1537725, + HGNC:31609, + HGNC_symbol:MIR25 ; biolink:category biolink:Gene . OMIM:612151 a owl:Class ; @@ -301353,7 +313575,6 @@ OMIM:612151 a owl:Class ; PMID:19812400, PMID:21642990, PMID:23543060 ; - oboInOwl:hasDbXref UMLS:C1537726 ; oboInOwl:hasExactSynonym "MIR26A1", "micro RNA 26a1", "mir26a", @@ -301361,7 +313582,9 @@ OMIM:612151 a owl:Class ; "mirna26a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407015 ; - skos:exactMatch HGNC_symbol:MIR26A1 ; + skos:exactMatch UMLS:C1537726, + HGNC:31610, + HGNC_symbol:MIR26A1 ; biolink:category biolink:Gene . OMIM:612152 a owl:Class ; @@ -301370,14 +313593,15 @@ OMIM:612152 a owl:Class ; PMID:18066065, PMID:19701194, PMID:19812400 ; - oboInOwl:hasDbXref UMLS:C1537728 ; oboInOwl:hasExactSynonym "MIR26B", "micro RNA 26b", "mirn26b", "mirna26b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407017 ; - skos:exactMatch HGNC_symbol:MIR26B ; + skos:exactMatch UMLS:C1537728, + HGNC:31612, + HGNC_symbol:MIR26B ; biolink:category biolink:Gene . OMIM:612153 a owl:Class ; @@ -301386,7 +313610,6 @@ OMIM:612153 a owl:Class ; PMID:11914277, PMID:20558719, PMID:24835395 ; - oboInOwl:hasDbXref UMLS:C1537729 ; oboInOwl:hasExactSynonym "MIR27A", "micro RNA 27a", "mir27", @@ -301394,34 +313617,38 @@ OMIM:612153 a owl:Class ; "mirna27a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407018 ; - skos:exactMatch HGNC_symbol:MIR27A ; + skos:exactMatch UMLS:C1537729, + HGNC:31613, + HGNC_symbol:MIR27A ; biolink:category biolink:Gene . OMIM:612154 a owl:Class ; rdfs:label "MIR28" ; IAO:0000142 PMID:11679670 ; - oboInOwl:hasDbXref UMLS:C1537731 ; oboInOwl:hasExactSynonym "MIR28", "micro RNA 28", "mirn28", "mirna28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407020 ; - skos:exactMatch HGNC_symbol:MIR28 ; + skos:exactMatch UMLS:C1537731, + HGNC:31615, + HGNC_symbol:MIR28 ; biolink:category biolink:Gene . OMIM:612155 a owl:Class ; rdfs:label "MIR31" ; IAO:0000142 PMID:11679670, PMID:22289355 ; - oboInOwl:hasDbXref UMLS:C1537742 ; oboInOwl:hasExactSynonym "MIR31", "micro RNA 31", "mirn31", "mirna31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407035 ; - skos:exactMatch HGNC_symbol:MIR31 ; + skos:exactMatch UMLS:C1537742, + HGNC:31630, + HGNC_symbol:MIR31 ; biolink:category biolink:Gene . OMIM:612156 a owl:Class ; @@ -301431,7 +313658,6 @@ OMIM:612156 a owl:Class ; PMID:20466885, PMID:20558698, PMID:22012398 ; - oboInOwl:hasDbXref UMLS:C1537744 ; oboInOwl:hasExactSynonym "MIR33A", "micro RNA 33a", "mir33", @@ -301439,7 +313665,9 @@ OMIM:612156 a owl:Class ; "mirna33a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407039 ; - skos:exactMatch HGNC_symbol:MIR33A ; + skos:exactMatch UMLS:C1537744, + HGNC:31634, + HGNC_symbol:MIR33A ; biolink:category biolink:Gene . OMIM:612157 a owl:Class ; @@ -301450,14 +313678,15 @@ OMIM:612157 a owl:Class ; PMID:17704192, PMID:20457756, PMID:27821551 ; - oboInOwl:hasDbXref UMLS:C1425182, - UMLS:C3888199 ; oboInOwl:hasExactSynonym "SENP1", "senp1/mesdc2 fusion gene", "sentrin-specific protease family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29843 ; - skos:exactMatch HGNC_symbol:SENP1 ; + skos:exactMatch UMLS:C1425182, + UMLS:C3888199, + HGNC:17927, + HGNC_symbol:SENP1 ; biolink:category biolink:Gene . OMIM:612158 a owl:Class ; @@ -301467,13 +313696,13 @@ OMIM:612158 a owl:Class ; PMID:20022194, PMID:25173926, PMID:25224718 ; - oboInOwl:hasDbXref UMLS:C2677338, - UMLS:C4225403 ; oboInOwl:hasExactSynonym "CMD1AA", "cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction", "cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction" ; rdfs:subClassOf OMIMPS:115200, OMIMPS:192600 ; + skos:exactMatch UMLS:C2677338, + UMLS:C4225403 ; biolink:category biolink:Disease . OMIM:612159 a owl:Class ; @@ -301482,13 +313711,14 @@ OMIM:612159 a owl:Class ; PMID:17149709, PMID:17877635, PMID:7822236 ; - oboInOwl:hasDbXref UMLS:C1424713 ; oboInOwl:hasExactSynonym "RPH3A", "kiaa0985", "rabphilin 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22895 ; - skos:exactMatch HGNC_symbol:RPH3A ; + skos:exactMatch UMLS:C1424713, + HGNC:17056, + HGNC_symbol:RPH3A ; biolink:category biolink:Gene . OMIM:612163 a owl:Class ; @@ -301499,13 +313729,14 @@ OMIM:612163 a owl:Class ; PMID:20720007 ; RO:0002525 CHR:9606chr11q13.3 ; RO:0003303 OMIM:612267 ; - oboInOwl:hasDbXref UMLS:C1427150 ; oboInOwl:hasExactSynonym "TPCN2", "two-pore channel 2", "two-pore segment channel 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219931 ; - skos:exactMatch HGNC_symbol:TPCN2 ; + skos:exactMatch UMLS:C1427150, + HGNC:20820, + HGNC_symbol:TPCN2 ; biolink:category biolink:Gene . OMIM:612166 a owl:Class ; @@ -301513,13 +313744,14 @@ OMIM:612166 a owl:Class ; IAO:0000142 PMID:10681536, PMID:17550612, PMID:18328005 ; - oboInOwl:hasDbXref UMLS:C1424763 ; oboInOwl:hasExactSynonym "SLC39A2", "solute carrier family 39 (zinc transporter), member 2", "zrt- and irt-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29986 ; - skos:exactMatch HGNC_symbol:SLC39A2 ; + skos:exactMatch UMLS:C1424763, + HGNC:17127, + HGNC_symbol:SLC39A2 ; biolink:category biolink:Gene . OMIM:612167 a owl:Class ; @@ -301532,7 +313764,6 @@ OMIM:612167 a owl:Class ; PMID:24001775, PMID:24482476, PMID:27373336 ; - oboInOwl:hasDbXref UMLS:C1538092 ; oboInOwl:hasExactSynonym "WDR48", "kiaa1449", "p80", @@ -301540,20 +313771,23 @@ OMIM:612167 a owl:Class ; "wd repeat-containing protein 48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57599 ; - skos:exactMatch HGNC_symbol:WDR48 ; + skos:exactMatch UMLS:C1538092, + HGNC:30914, + HGNC_symbol:WDR48 ; biolink:category biolink:Gene . OMIM:612168 a owl:Class ; rdfs:label "SLC39A3" ; IAO:0000142 PMID:10681536, PMID:17550612 ; - oboInOwl:hasDbXref UMLS:C1424764 ; oboInOwl:hasExactSynonym "SLC39A3", "solute carrier family 39 (zinc transporter), member 3", "zrt- and irt-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29985 ; - skos:exactMatch HGNC_symbol:SLC39A3 ; + skos:exactMatch UMLS:C1424764, + HGNC:17128, + HGNC_symbol:SLC39A3 ; biolink:category biolink:Gene . OMIM:612169 a owl:Class ; @@ -301564,7 +313798,6 @@ OMIM:612169 a owl:Class ; PMID:23261299, PMID:2531080, PMID:9516136 ; - oboInOwl:hasDbXref UMLS:C1521989 ; oboInOwl:hasExactSynonym "FCGR2C", "cd32c", "fc fragment of igg receptor iic", @@ -301573,18 +313806,21 @@ OMIM:612169 a owl:Class ; "fcriic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9103 ; - skos:exactMatch HGNC_symbol:FCGR2C ; + skos:exactMatch UMLS:C1521989, + HGNC:15626, + HGNC_symbol:FCGR2C ; biolink:category biolink:Gene . OMIM:612170 a owl:Class ; rdfs:label "MUC19" ; IAO:0000142 PMID:12882755 ; - oboInOwl:hasDbXref UMLS:C1422594 ; oboInOwl:hasExactSynonym "MUC19", "mucin 19, oligomeric" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283463 ; - skos:exactMatch HGNC_symbol:MUC19 ; + skos:exactMatch UMLS:C1422594, + HGNC:14362, + HGNC_symbol:MUC19 ; biolink:category biolink:Gene . OMIM:612171 a owl:Class ; @@ -301594,12 +313830,13 @@ OMIM:612171 a owl:Class ; PMID:12839967, PMID:15700311, PMID:18197409 ; - oboInOwl:hasDbXref UMLS:C1539685 ; oboInOwl:hasExactSynonym "RPRM", "reprimo" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56475 ; - skos:exactMatch HGNC_symbol:RPRM ; + skos:exactMatch UMLS:C1539685, + HGNC:24201, + HGNC_symbol:RPRM ; biolink:category biolink:Gene . OMIM:612172 a owl:Class ; @@ -301607,7 +313844,6 @@ OMIM:612172 a owl:Class ; IAO:0000142 PMID:18425142, PMID:30975767, PMID:9409622 ; - oboInOwl:hasDbXref UMLS:C1424920 ; oboInOwl:hasExactSynonym "DDX23", "dead-box helicase 23", "dead-box polypeptide 23", @@ -301616,7 +313852,9 @@ OMIM:612172 a owl:Class ; "u5-100kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9416 ; - skos:exactMatch HGNC_symbol:DDX23 ; + skos:exactMatch UMLS:C1424920, + HGNC:17347, + HGNC_symbol:DDX23 ; biolink:category biolink:Gene . OMIM:612173 a owl:Class ; @@ -301626,13 +313864,14 @@ OMIM:612173 a owl:Class ; PMID:15328412, PMID:17699735, PMID:19305393 ; - oboInOwl:hasDbXref UMLS:C1539808 ; oboInOwl:hasExactSynonym "SPAG16", "pf20", "sperm-associated antigen 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79582 ; - skos:exactMatch HGNC_symbol:SPAG16 ; + skos:exactMatch UMLS:C1539808, + HGNC:23225, + HGNC_symbol:SPAG16 ; biolink:category biolink:Gene . OMIM:612174 a owl:Class ; @@ -301641,26 +313880,28 @@ OMIM:612174 a owl:Class ; PMID:15561763, PMID:19892943, PMID:22801495 ; - oboInOwl:hasDbXref UMLS:C1538427 ; oboInOwl:hasExactSynonym "CAB39", "calcium-binding protein 39", "mo25-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51719 ; - skos:exactMatch HGNC_symbol:CAB39 ; + skos:exactMatch UMLS:C1538427, + HGNC:20292, + HGNC_symbol:CAB39 ; biolink:category biolink:Gene . OMIM:612175 a owl:Class ; rdfs:label "CAB39L" ; IAO:0000142 PMID:14517248 ; - oboInOwl:hasDbXref UMLS:C1538428 ; oboInOwl:hasExactSynonym "CAB39L", "cab39-like protein", "calcium-binding protein 39-like protein", "mo25-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81617 ; - skos:exactMatch HGNC_symbol:CAB39L ; + skos:exactMatch UMLS:C1538428, + HGNC:20290, + HGNC_symbol:CAB39L ; biolink:category biolink:Gene . OMIM:612176 a owl:Class ; @@ -301680,14 +313921,15 @@ OMIM:612176 a owl:Class ; PMID:29203593 ; RO:0002525 CHR:9606chr1p32.1 ; RO:0003303 OMIM:618116 ; - oboInOwl:hasDbXref UMLS:C1826336 ; oboInOwl:hasExactSynonym "MYSM1", "histone h2a deubiquitinase", "kiaa1915", "myb-like, swirm, and mpn domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114803 ; - skos:exactMatch HGNC_symbol:MYSM1 ; + skos:exactMatch UMLS:C1826336, + HGNC:29401, + HGNC_symbol:MYSM1 ; biolink:category biolink:Gene . OMIM:612177 a owl:Class ; @@ -301695,53 +313937,57 @@ OMIM:612177 a owl:Class ; IAO:0000142 PMID:17881443, PMID:6084597, PMID:6179628 ; - oboInOwl:hasDbXref UMLS:C1419401 ; oboInOwl:hasExactSynonym "7l1a", "7sl", "RN7SL1", "rna, 7sl, cytoplasmic 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6029 ; - skos:exactMatch HGNC_symbol:RN7SL1 ; + skos:exactMatch UMLS:C1419401, + HGNC:10038, + HGNC_symbol:RN7SL1 ; biolink:category biolink:Gene . OMIM:612178 a owl:Class ; rdfs:label "HENMT1" ; IAO:0000142 PMID:18463630, PMID:20558712 ; - oboInOwl:hasDbXref UMLS:C1823206 ; oboInOwl:hasExactSynonym "HENMT1", "chromosome 1 open reading frame 59", "hen methyltransferase 1", "hen1 methyltransferase, arabidopsis, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113802 ; - skos:exactMatch HGNC_symbol:HENMT1 ; + skos:exactMatch UMLS:C1823206, + HGNC:26400, + HGNC_symbol:HENMT1 ; biolink:category biolink:Gene . OMIM:612179 a owl:Class ; rdfs:label "RN7SL2" ; IAO:0000142 PMID:6084597 ; - oboInOwl:hasDbXref UMLS:C1427936 ; oboInOwl:hasExactSynonym "7l1c", "7l30.1", "RN7SL2", "rna, 7sl, cytoplasmic 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:378706 ; - skos:exactMatch HGNC_symbol:RN7SL2 ; + skos:exactMatch UMLS:C1427936, + HGNC:23134, + HGNC_symbol:RN7SL2 ; biolink:category biolink:Gene . OMIM:612180 a owl:Class ; rdfs:label "RN7SL3" ; IAO:0000142 PMID:6084597 ; - oboInOwl:hasDbXref UMLS:C1427937 ; oboInOwl:hasExactSynonym "7l30.2", "RN7SL3", "rna, 7sl, cytoplasmic 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:378707 ; - skos:exactMatch HGNC_symbol:RN7SL3 ; + skos:exactMatch UMLS:C1427937, + HGNC:23135, + HGNC_symbol:RN7SL3 ; biolink:category biolink:Gene . OMIM:612181 a owl:Class ; @@ -301749,12 +313995,13 @@ OMIM:612181 a owl:Class ; IAO:0000142 PMID:11278439, PMID:15904467, PMID:17058067 ; - oboInOwl:hasDbXref UMLS:C1417493 ; oboInOwl:hasExactSynonym "MUC13", "mucin 13, cell surface-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56667 ; - skos:exactMatch HGNC_symbol:MUC13 ; + skos:exactMatch UMLS:C1417493, + HGNC:7511, + HGNC_symbol:MUC13 ; biolink:category biolink:Gene . OMIM:612182 a owl:Class ; @@ -301794,50 +314041,54 @@ OMIM:612182 a owl:Class ; PMID:9918135 ; RO:0002525 CHR:9606chr8p22 ; RO:0003303 OMIM:243400 ; - oboInOwl:hasDbXref UMLS:C0796518 ; oboInOwl:hasExactSynonym "NAT2", "arylamide acetylase 2", "n-acetyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10 ; - skos:exactMatch HGNC_symbol:NAT2 ; + skos:exactMatch UMLS:C0796518, + HGNC:7646, + HGNC_symbol:NAT2 ; biolink:category biolink:Gene . OMIM:612183 a owl:Class ; rdfs:label "GPR176" ; IAO:0000142 PMID:7893747 ; - oboInOwl:hasDbXref UMLS:C1825409 ; oboInOwl:hasExactSynonym "GPR176", "g protein-coupled receptor 176" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11245 ; - skos:exactMatch HGNC_symbol:GPR176 ; + skos:exactMatch UMLS:C1825409, + HGNC:32370, + HGNC_symbol:GPR176 ; biolink:category biolink:Gene . OMIM:612184 a owl:Class ; rdfs:label "CASKIN1" ; IAO:0000142 PMID:10718198, PMID:12040031 ; - oboInOwl:hasDbXref UMLS:C1427185 ; oboInOwl:hasExactSynonym "CASKIN1", "cask-interacting protein 1", "kiaa1306" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57524 ; - skos:exactMatch HGNC_symbol:CASKIN1 ; + skos:exactMatch UMLS:C1427185, + HGNC:20879, + HGNC_symbol:CASKIN1 ; biolink:category biolink:Gene . OMIM:612185 a owl:Class ; rdfs:label "CASKIN2" ; IAO:0000142 PMID:10574461, PMID:12040031 ; - oboInOwl:hasDbXref UMLS:C1425374 ; oboInOwl:hasExactSynonym "CASKIN2", "cask-interacting protein 2", "kiaa1139" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57513 ; - skos:exactMatch HGNC_symbol:CASKIN2 ; + skos:exactMatch UMLS:C1425374, + HGNC:18200, + HGNC_symbol:CASKIN2 ; biolink:category biolink:Gene . OMIM:612186 a owl:Class ; @@ -301852,28 +314103,30 @@ OMIM:612186 a owl:Class ; PMID:33715530 ; RO:0002525 CHR:9606chr15q21.2 ; RO:0003303 OMIM:618663 ; - oboInOwl:hasDbXref UMLS:C1414090, - UMLS:C4015261, - UMLS:C4539881, - UMLS:C5231450 ; oboInOwl:hasExactSynonym "DMXL2", "dmx-like 2", "kiaa0856", "rabconnectin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23312 ; - skos:exactMatch HGNC_symbol:DMXL2 ; + skos:exactMatch UMLS:C1414090, + UMLS:C4015261, + UMLS:C4539881, + UMLS:C5231450, + HGNC:2938, + HGNC_symbol:DMXL2 ; biolink:category biolink:Gene . OMIM:612187 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:18418376 ; - oboInOwl:hasDbXref UMLS:C2677318 ; oboInOwl:hasExactSynonym "heme-responsive gene 1", "hrg1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55652 ; - skos:exactMatch HGNC_symbol:SLC48A1 ; + skos:exactMatch UMLS:C2677318, + HGNC:26035, + HGNC_symbol:SLC48A1 ; biolink:category biolink:Gene . OMIM:612188 a owl:Class ; @@ -301881,7 +314134,6 @@ OMIM:612188 a owl:Class ; IAO:0000142 PMID:11448994, PMID:12941698, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1427020 ; oboInOwl:hasExactSynonym "VPS39", "kiaa0770", "trap1-like protein", @@ -301890,20 +314142,23 @@ OMIM:612188 a owl:Class ; "vps39 subunit of hops complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23339 ; - skos:exactMatch HGNC_symbol:VPS39 ; + skos:exactMatch UMLS:C1427020, + HGNC:20593, + HGNC_symbol:VPS39 ; biolink:category biolink:Gene . OMIM:612189 a owl:Class ; rdfs:label "PBLD" ; IAO:0000142 PMID:11355021 ; - oboInOwl:hasDbXref UMLS:C1826546 ; oboInOwl:hasExactSynonym "PBLD", "mawd-binding protein", "mawdbp", "phenazine biosynthesis-like protein domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64081 ; - skos:exactMatch HGNC_symbol:PBLD ; + skos:exactMatch UMLS:C1826546, + HGNC:23301, + HGNC_symbol:PBLD ; biolink:category biolink:Gene . OMIM:612190 a owl:Class ; @@ -301912,7 +314167,6 @@ OMIM:612190 a owl:Class ; PMID:12718876, PMID:23636326, PMID:28489822 ; - oboInOwl:hasDbXref UMLS:C2677317 ; oboInOwl:hasExactSynonym "MLST8", "g protein beta subunit-like protein", "g-beta-like protein", @@ -301922,19 +314176,22 @@ OMIM:612190 a owl:Class ; "wat1, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64223 ; - skos:exactMatch HGNC_symbol:MLST8 ; + skos:exactMatch UMLS:C2677317, + HGNC:24825, + HGNC_symbol:MLST8 ; biolink:category biolink:Gene . OMIM:612191 a owl:Class ; rdfs:label "MSMP" ; IAO:0000142 PMID:17338636 ; - oboInOwl:hasDbXref UMLS:C2677316 ; oboInOwl:hasExactSynonym "MSMP", "microseminoprotein, prostate-associated", "pc3 prostate cancer cell-secreted microprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:692094 ; - skos:exactMatch HGNC_symbol:MSMP ; + skos:exactMatch UMLS:C2677316, + HGNC:29663, + HGNC_symbol:MSMP ; biolink:category biolink:Gene . OMIM:612192 a owl:Class ; @@ -301949,13 +314206,14 @@ OMIM:612192 a owl:Class ; PMID:8120052 ; RO:0002525 CHR:9606chr6p22.1 ; RO:0003303 OMIM:601410 ; - oboInOwl:hasDbXref UMLS:C1823951 ; oboInOwl:hasExactSynonym "ZFP57", "zfp57 zinc finger protein", "zinc finger protein 57, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:346171 ; - skos:exactMatch HGNC_symbol:ZFP57 ; + skos:exactMatch UMLS:C1823951, + HGNC:18791, + HGNC_symbol:ZFP57 ; biolink:category biolink:Gene . OMIM:612193 a owl:Class ; @@ -301964,14 +314222,15 @@ OMIM:612193 a owl:Class ; PMID:16407236, PMID:17872945, PMID:18252718 ; - oboInOwl:hasDbXref UMLS:C1422559 ; oboInOwl:hasExactSynonym "CMYA5", "cardiomyopathy-associated protein 5", "myospryn", "tripartite motif-containing protein 76" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:202333 ; - skos:exactMatch HGNC_symbol:CMYA5 ; + skos:exactMatch UMLS:C1422559, + HGNC:14305, + HGNC_symbol:CMYA5 ; biolink:category biolink:Gene . OMIM:612194 a owl:Class ; @@ -301984,27 +314243,29 @@ OMIM:612194 a owl:Class ; PMID:29590090, PMID:7499430, PMID:8995684 ; - oboInOwl:hasDbXref UMLS:C1335646 ; oboInOwl:hasExactSynonym "RRAGA", "fip1", "raga", "ras-related gtp-binding protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10670 ; - skos:exactMatch HGNC_symbol:RRAGA ; + skos:exactMatch UMLS:C1335646, + HGNC:16963, + HGNC_symbol:RRAGA ; biolink:category biolink:Gene . OMIM:612195 a owl:Class ; rdfs:label "ABHD1" ; IAO:0000142 PMID:11922611, PMID:12735795 ; - oboInOwl:hasDbXref UMLS:C1424994 ; oboInOwl:hasExactSynonym "ABHD1", "abhydrolase domain-containing protein 1", "lung alpha/beta hydrolase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84696 ; - skos:exactMatch HGNC_symbol:ABHD1 ; + skos:exactMatch UMLS:C1424994, + HGNC:17553, + HGNC_symbol:ABHD1 ; biolink:category biolink:Gene . OMIM:612196 a owl:Class ; @@ -302014,34 +314275,36 @@ OMIM:612196 a owl:Class ; PMID:15721306, PMID:17980156, PMID:26989199 ; - oboInOwl:hasDbXref UMLS:C1425733 ; oboInOwl:hasExactSynonym "ABHD2", "abhydrolase domain-containing protein 2, acylglycerol lipase", "lung alpha/beta hydrolase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11057 ; - skos:exactMatch HGNC_symbol:ABHD2 ; + skos:exactMatch UMLS:C1425733, + HGNC:18717, + HGNC_symbol:ABHD2 ; biolink:category biolink:Gene . OMIM:612197 a owl:Class ; rdfs:label "ABHD3" ; IAO:0000142 PMID:11922611, PMID:12735795 ; - oboInOwl:hasDbXref UMLS:C1425734 ; oboInOwl:hasExactSynonym "ABHD3", "abhydrolase domain-containing protein 3, phospholipase", "lung alpha/beta hydrolase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171586 ; - skos:exactMatch HGNC_symbol:ABHD3 ; + skos:exactMatch UMLS:C1425734, + HGNC:18718, + HGNC_symbol:ABHD3 ; biolink:category biolink:Gene . OMIM:612198 a owl:Class ; rdfs:label "diastasis recti and weakness of the linea alba" ; IAO:0000142 PMID:15127756, PMID:18076103 ; - oboInOwl:hasDbXref UMLS:C2677303 ; oboInOwl:hasExactSynonym "diastasis recti and weakness of the linea alba" ; + skos:exactMatch UMLS:C2677303 ; biolink:category biolink:Disease . OMIM:612200 a owl:Class ; @@ -302049,14 +314312,15 @@ OMIM:612200 a owl:Class ; IAO:0000142 PMID:16691549, PMID:18621663, PMID:21264219 ; - oboInOwl:hasDbXref UMLS:C1824154 ; oboInOwl:hasExactSynonym "DIPK2A", "chromosome 3 open reading frame 58", "deleted 1n autism 1", "divergent protein kinase domain 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:205428 ; - skos:exactMatch HGNC_symbol:DIPK2A ; + skos:exactMatch UMLS:C1824154, + HGNC:28490, + HGNC_symbol:DIPK2A ; biolink:category biolink:Gene . OMIM:612201 a owl:Class ; @@ -302065,10 +314329,10 @@ OMIM:612201 a owl:Class ; PMID:19646991, PMID:20064500, PMID:9070470 ; - oboInOwl:hasDbXref UMLS:C2677294 ; oboInOwl:hasExactSynonym "ATFB6", "atrial fibrillation, familial, 6" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C2677294 ; biolink:category biolink:Disease . OMIM:612202 a owl:Class ; @@ -302078,37 +314342,40 @@ OMIM:612202 a owl:Class ; PMID:18094332, PMID:22723016, PMID:31154937 ; - oboInOwl:hasDbXref UMLS:C1425372 ; oboInOwl:hasExactSynonym "SOX7", "sry-box 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83595 ; - skos:exactMatch HGNC_symbol:SOX7 ; + skos:exactMatch UMLS:C1425372, + HGNC:18196, + HGNC_symbol:SOX7 ; biolink:category biolink:Gene . OMIM:612203 a owl:Class ; rdfs:label "NAP1L5" ; IAO:0000142 PMID:12383514 ; - oboInOwl:hasDbXref UMLS:C1426570 ; oboInOwl:hasExactSynonym "NAP1L5", "downregulated 1n liver malignancy", "nucleosome assembly protein 1-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266812 ; - skos:exactMatch HGNC_symbol:NAP1L5 ; + skos:exactMatch UMLS:C1426570, + HGNC:19968, + HGNC_symbol:NAP1L5 ; biolink:category biolink:Gene . OMIM:612204 a owl:Class ; rdfs:label "ATG9A" ; IAO:0000142 PMID:15755735 ; - oboInOwl:hasDbXref UMLS:C1825499 ; oboInOwl:hasExactSynonym "ATG9A", "apg9-like 1", "autophagy 9, s. cerevisiae, homolog of, a", "autophagy-related 9a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79065 ; - skos:exactMatch HGNC_symbol:ATG9A ; + skos:exactMatch UMLS:C1825499, + HGNC:22408, + HGNC_symbol:ATG9A ; biolink:category biolink:Gene . OMIM:612205 a owl:Class ; @@ -302117,7 +314384,6 @@ OMIM:612205 a owl:Class ; PMID:15755735, PMID:17403686, PMID:19197948 ; - oboInOwl:hasDbXref UMLS:C1825500 ; oboInOwl:hasExactSynonym "ATG9B", "apg9-like 2", "autophagy 9, s. cerevisiae, homolog of, B", @@ -302126,7 +314392,9 @@ OMIM:612205 a owl:Class ; "sone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285973 ; - skos:exactMatch HGNC_symbol:ATG9B ; + skos:exactMatch UMLS:C1825500, + HGNC:21899, + HGNC_symbol:ATG9B ; biolink:category biolink:Gene . OMIM:612206 a owl:Class ; @@ -302135,12 +314403,13 @@ OMIM:612206 a owl:Class ; PMID:10568747, PMID:18635802, PMID:7647465 ; - oboInOwl:hasDbXref UMLS:C1424790 ; oboInOwl:hasExactSynonym "FJX1", "four-jointed box, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24147 ; - skos:exactMatch HGNC_symbol:FJX1 ; + skos:exactMatch UMLS:C1424790, + HGNC:17166, + HGNC_symbol:FJX1 ; biolink:category biolink:Gene . OMIM:612207 a owl:Class ; @@ -302150,14 +314419,15 @@ OMIM:612207 a owl:Class ; PMID:18635803, PMID:19553991, PMID:23345592 ; - oboInOwl:hasDbXref UMLS:C1423498 ; oboInOwl:hasExactSynonym "GOLPH3", "golgi phosphoprotein 3", "golgi-associated protein, 34-kd", "mitochondrial DNA absence-sensitive factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64083 ; - skos:exactMatch HGNC_symbol:GOLPH3 ; + skos:exactMatch UMLS:C1423498, + HGNC:15452, + HGNC_symbol:GOLPH3 ; biolink:category biolink:Gene . OMIM:612208 a owl:Class ; @@ -302166,13 +314436,14 @@ OMIM:612208 a owl:Class ; PMID:16263763, PMID:18635803, PMID:23345592 ; - oboInOwl:hasDbXref UMLS:C1539590 ; oboInOwl:hasExactSynonym "GOLPH3L", "golgi phosphoprotein 3-like", "gpp34-related" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55204 ; - skos:exactMatch HGNC_symbol:GOLPH3L ; + skos:exactMatch UMLS:C1539590, + HGNC:24882, + HGNC_symbol:GOLPH3L ; biolink:category biolink:Gene . OMIM:612209 a owl:Class ; @@ -302180,18 +314451,18 @@ OMIM:612209 a owl:Class ; IAO:0000142 PMID:10837126, PMID:11124811, PMID:18563087 ; - oboInOwl:hasDbXref UMLS:C1826308 ; oboInOwl:hasExactSynonym "MSGN1", "mesogenin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343930 ; - skos:exactMatch HGNC_symbol:MSGN1 ; + skos:exactMatch UMLS:C1826308, + HGNC:14907, + HGNC_symbol:MSGN1 ; biolink:category biolink:Gene . OMIM:612210 a owl:Class ; rdfs:label "HULC" ; IAO:0000142 PMID:17241883 ; - oboInOwl:hasDbXref UMLS:C2677155 ; oboInOwl:hasExactSynonym "HULC", "hepatocellular carcinoma-upregulated long noncoding RNA", "highly upregulated 1n liver cancer", @@ -302199,39 +314470,42 @@ OMIM:612210 a owl:Class ; "long noncoding RNA hulc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728655 ; - skos:exactMatch HGNC_symbol:HULC ; + skos:exactMatch UMLS:C2677155, + HGNC:34232, + HGNC_symbol:HULC ; biolink:category biolink:Gene . OMIM:612211 a owl:Class ; rdfs:label "TUSC5" ; IAO:0000142 PMID:12660825, PMID:17592729 ; - oboInOwl:hasDbXref UMLS:C1540132 ; oboInOwl:hasExactSynonym "TUSC5", "lost1", "tumor suppressor candidate 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286753 ; - skos:exactMatch HGNC_symbol:TRARG1 ; + skos:exactMatch UMLS:C1540132, + HGNC:29592, + HGNC_symbol:TRARG1 ; biolink:category biolink:Gene . OMIM:612212 a owl:Class ; rdfs:label "PLGLA" ; IAO:0000142 PMID:10092845, PMID:9074645 ; - oboInOwl:hasDbXref UMLS:C2239826 ; oboInOwl:hasExactSynonym "PLGLA", "plasminogen-like a", "plasminogen-related gene a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285189 ; - skos:exactMatch HGNC_symbol:PLGLA ; + skos:exactMatch UMLS:C2239826, + HGNC:9074, + HGNC_symbol:PLGLA ; biolink:category biolink:Gene . OMIM:612213 a owl:Class ; rdfs:label "BSPH1" ; IAO:0000142 PMID:17085770 ; - oboInOwl:hasDbXref UMLS:C2677154 ; oboInOwl:hasExactSynonym "BSPH1", "binder of sperm protein, bovine, homolog of, 1", "bovine seminal plasma protein-like 1", @@ -302239,57 +314513,63 @@ OMIM:612213 a owl:Class ; "seminal plasma protein, bovine, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100131137 ; - skos:exactMatch HGNC_symbol:BSPH1 ; + skos:exactMatch UMLS:C2677154, + HGNC:33906, + HGNC_symbol:BSPH1 ; biolink:category biolink:Gene . OMIM:612214 a owl:Class ; rdfs:label "RGL4" ; IAO:0000142 PMID:12140761, PMID:12874025 ; - oboInOwl:hasDbXref UMLS:C2239883 ; oboInOwl:hasExactSynonym "RGL4", "ral guanine nucleotide dissociation stimulator-like 4", "ralgds-related, rabbit, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266747 ; - skos:exactMatch HGNC_symbol:RGL4 ; + skos:exactMatch UMLS:C2239883, + HGNC:31911, + HGNC_symbol:RGL4 ; biolink:category biolink:Gene . OMIM:612215 a owl:Class ; rdfs:label "SNHG6" ; IAO:0000142 PMID:16226852 ; - oboInOwl:hasDbXref UMLS:C1822801 ; oboInOwl:hasExactSynonym "SNHG6", "small nucleolar RNA host gene 6", "u87 host gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641638 ; - skos:exactMatch HGNC_symbol:SNHG6 ; + skos:exactMatch UMLS:C1822801, + HGNC:32965, + HGNC_symbol:SNHG6 ; biolink:category biolink:Gene . OMIM:612216 a owl:Class ; rdfs:label "SNORD87" ; IAO:0000142 PMID:12119114, PMID:16226852 ; - oboInOwl:hasDbXref UMLS:C1822997 ; oboInOwl:hasExactSynonym "SNORD87", "small nucleolar rna, c/d box, 87", "u87" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641648 ; - skos:exactMatch HGNC_symbol:SNORD87 ; + skos:exactMatch UMLS:C1822997, + HGNC:32746, + HGNC_symbol:SNORD87 ; biolink:category biolink:Gene . OMIM:612217 a owl:Class ; rdfs:label "ILRUN" ; IAO:0000142 PMID:14574404 ; - oboInOwl:hasDbXref UMLS:C1427422 ; oboInOwl:hasExactSynonym "ILRUN", "chromosome 6 open reading frame 106", "inflammation and lipid regulator with uba-like and nbr1-like domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64771 ; - skos:exactMatch HGNC_symbol:ILRUN ; + skos:exactMatch UMLS:C1427422, + HGNC:21215, + HGNC_symbol:ILRUN ; biolink:category biolink:Gene . OMIM:612218 a owl:Class ; @@ -302297,12 +314577,13 @@ OMIM:612218 a owl:Class ; IAO:0000142 PMID:16354688, PMID:18375381, PMID:18391951 ; - oboInOwl:hasDbXref UMLS:C1538156 ; oboInOwl:hasExactSynonym "ZBTB38", "zinc finger- and btb domain-containing protein 38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253461 ; - skos:exactMatch HGNC_symbol:ZBTB38 ; + skos:exactMatch UMLS:C1538156, + HGNC:26636, + HGNC_symbol:ZBTB38 ; biolink:category biolink:Gene . OMIM:612220 a owl:Class ; @@ -302312,13 +314593,14 @@ OMIM:612220 a owl:Class ; PMID:17579116, PMID:22722937, PMID:22722940 ; - oboInOwl:hasDbXref UMLS:C1825859 ; oboInOwl:hasExactSynonym "B4GALNT3", "b4galnact3", "beta-1,4-n-acetylgalactosaminyltransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283358 ; - skos:exactMatch HGNC_symbol:B4GALNT3 ; + skos:exactMatch UMLS:C1825859, + HGNC:24137, + HGNC_symbol:B4GALNT3 ; biolink:category biolink:Gene . OMIM:612222 a owl:Class ; @@ -302346,33 +314628,34 @@ OMIM:612222 a owl:Class ; PMID:9660054 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:253000 ; - oboInOwl:hasDbXref UMLS:C1414950 ; oboInOwl:hasExactSynonym "GALNS", "galactosamine-6-sulfate sulfatase", "n-acetylgalactosamine-sulfate sulfatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2588 ; - skos:exactMatch HGNC_symbol:GALNS ; + skos:exactMatch UMLS:C1414950, + HGNC:4122, + HGNC_symbol:GALNS ; biolink:category biolink:Gene . OMIM:612225 a owl:Class ; rdfs:label "maturity-onset diabetes of the young, iia 9" ; IAO:0000142 PMID:17426099 ; - oboInOwl:hasDbXref UMLS:C2677132 ; oboInOwl:hasExactSynonym "MODY9", "maturity-onset diabetes of the young, iia 9" ; + skos:exactMatch UMLS:C2677132 ; biolink:category biolink:Disease . OMIM:612233 a owl:Class ; rdfs:label "leukodystrophy, hypomyelinating, 4" ; IAO:0000142 PMID:18571143, PMID:27405012 ; - oboInOwl:hasDbXref UMLS:C2677109 ; oboInOwl:hasExactSynonym "HLD4", "leukodystrophy, hypomyelinating, 4", "mitchap60 disease", "mitochondrial hsp60 chaperonopathy" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C2677109 ; biolink:category biolink:Disease . OMIM:612234 a owl:Class ; @@ -302381,40 +314664,43 @@ OMIM:612234 a owl:Class ; PMID:19472444, PMID:23467090, PMID:29681531 ; - oboInOwl:hasDbXref UMLS:C1539418 ; oboInOwl:hasExactSynonym "CALHM1", "calcium homeostasis modulator 1", "family with sequence similarity 26, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255022 ; - skos:exactMatch HGNC_symbol:CALHM1 ; + skos:exactMatch UMLS:C1539418, + HGNC:23494, + HGNC_symbol:CALHM1 ; biolink:category biolink:Gene . OMIM:612235 a owl:Class ; rdfs:label "CALHM2" ; IAO:0000142 PMID:18585350, PMID:31776515 ; - oboInOwl:hasDbXref UMLS:C1539417 ; oboInOwl:hasExactSynonym "CALHM2", "calcium homeostasis modulator 2", "family with sequence similarity 26, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51063 ; - skos:exactMatch HGNC_symbol:CALHM2 ; + skos:exactMatch UMLS:C1539417, + HGNC:23493, + HGNC_symbol:CALHM2 ; biolink:category biolink:Gene . OMIM:612236 a owl:Class ; rdfs:label "ERGIC2" ; IAO:0000142 PMID:11445006, PMID:12932305 ; - oboInOwl:hasDbXref UMLS:C1825062 ; oboInOwl:hasExactSynonym "ERGIC2", "cda14", "endoplasmic reticulum-golgi intermediate compartment protein 2", "ptx1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51290 ; - skos:exactMatch HGNC_symbol:ERGIC2 ; + skos:exactMatch UMLS:C1825062, + HGNC:30208, + HGNC_symbol:ERGIC2 ; biolink:category biolink:Gene . OMIM:612242 a owl:Class ; @@ -302429,11 +314715,11 @@ OMIM:612242 a owl:Class ; PMID:9182775, PMID:9286463 ; RO:0002525 CHR:9606chr10q23 ; - oboInOwl:hasDbXref UMLS:C0345893, - UMLS:C4225669 ; oboInOwl:hasExactSynonym "chromosome 10q22.3-q23.2 deletion syndrome", "juvenile polyposis of infancy", "juvenile polyposis, infantile" ; + skos:exactMatch UMLS:C0345893, + UMLS:C4225669 ; biolink:category biolink:Disease . OMIM:612243 a owl:Class ; @@ -302445,23 +314731,24 @@ OMIM:612243 a owl:Class ; PMID:27501152 ; RO:0002525 CHR:9606chr6q24.2 ; RO:0003303 OMIM:616503 ; - oboInOwl:hasDbXref UMLS:C1422227 ; oboInOwl:hasExactSynonym "ADGRG6", "adhesion g protein-coupled receptor g6", "g protein-coupled receptor 126", "vascular-inducible g protein-coupled receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57211 ; - skos:exactMatch HGNC_symbol:ADGRG6 ; + skos:exactMatch UMLS:C1422227, + HGNC:13841, + HGNC_symbol:ADGRG6 ; biolink:category biolink:Gene . OMIM:612245 a owl:Class ; rdfs:label "inflammatory bowel disease 14" ; IAO:0000142 PMID:17881657 ; - oboInOwl:hasDbXref UMLS:C2677100 ; oboInOwl:hasExactSynonym "IBD14", "inflammatory bowel disease 14" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2677100 ; biolink:category biolink:Disease . OMIM:612246 a owl:Class ; @@ -302470,14 +314757,15 @@ OMIM:612246 a owl:Class ; PMID:17947679, PMID:27316686, PMID:7584026 ; - oboInOwl:hasDbXref UMLS:C1540296 ; oboInOwl:hasExactSynonym "CD302", "cd302 antigen", "dec205-associated c-type lectin 1", "kiaa0022" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9936 ; - skos:exactMatch HGNC_symbol:CD302 ; + skos:exactMatch UMLS:C1540296, + HGNC:30843, + HGNC_symbol:CD302 ; biolink:category biolink:Gene . OMIM:612247 a owl:Class ; @@ -302490,22 +314778,23 @@ OMIM:612247 a owl:Class ; PMID:3894462, PMID:7493034, PMID:8880573 ; - oboInOwl:hasDbXref UMLS:C2677099 ; oboInOwl:hasExactSynonym "CAN", "crouzon syndrome with acanthosis nigricans", "crouzonodermoskeletal syndrome" ; + skos:exactMatch UMLS:C2677099 ; biolink:category biolink:Disease . OMIM:612248 a owl:Class ; rdfs:label "ZNF627" ; IAO:0000142 PMID:12016960, PMID:18077766 ; - oboInOwl:hasDbXref UMLS:C1538206 ; oboInOwl:hasExactSynonym "ZNF627", "zinc finger protein 627" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199692 ; - skos:exactMatch HGNC_symbol:ZNF627 ; + skos:exactMatch UMLS:C1538206, + HGNC:30570, + HGNC_symbol:ZNF627 ; biolink:category biolink:Gene . OMIM:612249 a owl:Class ; @@ -302514,13 +314803,14 @@ OMIM:612249 a owl:Class ; PMID:25394321, PMID:25760364, PMID:25760365 ; - oboInOwl:hasDbXref UMLS:C1823277 ; oboInOwl:hasExactSynonym "THSD7A", "kiaa0960", "thrombospondin type-1 domain-containing protein 7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221981 ; - skos:exactMatch HGNC_symbol:THSD7A ; + skos:exactMatch UMLS:C1823277, + HGNC:22207, + HGNC_symbol:THSD7A ; biolink:category biolink:Gene . OMIM:612250 a owl:Class ; @@ -302528,11 +314818,12 @@ OMIM:612250 a owl:Class ; IAO:0000142 PMID:18250320, PMID:23332756, PMID:25322266 ; - oboInOwl:hasDbXref UMLS:C1428198 ; oboInOwl:hasExactSynonym "g protein-coupled receptor 161: gpr161" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23432 ; - skos:exactMatch HGNC_symbol:GPR161 ; + skos:exactMatch UMLS:C1428198, + HGNC:23694, + HGNC_symbol:GPR161 ; biolink:category biolink:Gene . OMIM:612252 a owl:Class ; @@ -302542,13 +314833,14 @@ OMIM:612252 a owl:Class ; PMID:19219027, PMID:23953115, PMID:30337411 ; - oboInOwl:hasDbXref UMLS:C1539103 ; oboInOwl:hasExactSynonym "CLEC9A", "c-type lectin domain family 9, member a", "dendritic cell natural killer lectin group receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283420 ; - skos:exactMatch HGNC_symbol:CLEC9A ; + skos:exactMatch UMLS:C1539103, + HGNC:26705, + HGNC_symbol:CLEC9A ; biolink:category biolink:Gene . OMIM:612256 a owl:Class ; @@ -302560,14 +314852,15 @@ OMIM:612256 a owl:Class ; PMID:30449657 ; RO:0002525 CHR:9606chr19p13.13 ; RO:0003303 OMIM:618273 ; - oboInOwl:hasDbXref UMLS:C1537669 ; oboInOwl:hasExactSynonym "MAST1", "kiaa0973", "microtubule-associated serine/threonine kinase 1", "syntrophin-associated serine/threonine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22983 ; - skos:exactMatch HGNC_symbol:MAST1 ; + skos:exactMatch UMLS:C1537669, + HGNC:19034, + HGNC_symbol:MAST1 ; biolink:category biolink:Gene . OMIM:612257 a owl:Class ; @@ -302576,14 +314869,15 @@ OMIM:612257 a owl:Class ; PMID:18206861, PMID:8246979, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1425969 ; oboInOwl:hasExactSynonym "MAST2", "kiaa0807", "microtubule-associated serine/threonine kinase 2", "microtubule-associated serine/threonine kinase, 205-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23139 ; - skos:exactMatch HGNC_symbol:MAST2 ; + skos:exactMatch UMLS:C1425969, + HGNC:19035, + HGNC_symbol:MAST2 ; biolink:category biolink:Gene . OMIM:612258 a owl:Class ; @@ -302591,13 +314885,14 @@ OMIM:612258 a owl:Class ; IAO:0000142 PMID:15951562, PMID:18206861, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1425970 ; oboInOwl:hasExactSynonym "MAST3", "kiaa0561", "microtubule-associated serine/threonine kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23031 ; - skos:exactMatch HGNC_symbol:MAST3 ; + skos:exactMatch UMLS:C1425970, + HGNC:19036, + HGNC_symbol:MAST3 ; biolink:category biolink:Gene . OMIM:612260 a owl:Class ; @@ -302606,14 +314901,14 @@ OMIM:612260 a owl:Class ; PMID:20538326, PMID:21057262, PMID:31301515 ; - oboInOwl:hasDbXref UMLS:C2677092, - ORPHA:183713 ; oboInOwl:hasExactSynonym "IMD68", "immunodeficiency 68", "myd88 deficiency", "pyogenic bacterial infections, recurrent, due to myd88 deficiency", "recurrent pyogenic bacterial infections due to myd88 deficiency" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C2677092, + ORPHA:183713 ; biolink:category biolink:Disease . OMIM:612261 a owl:Class ; @@ -302634,10 +314929,10 @@ OMIM:612261 a owl:Class ; PMID:20393462, PMID:21151126, PMID:21983784 ; - oboInOwl:hasDbXref UMLS:C2677091 ; oboInOwl:hasExactSynonym "IBD17", "inflammatory bowel disease 17" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2677091 ; biolink:category biolink:Disease . OMIM:612264 a owl:Class ; @@ -302649,7 +314944,6 @@ OMIM:612264 a owl:Class ; PMID:12972549, PMID:17974964, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1424610 ; oboInOwl:hasExactSynonym "MRC2", "cd280", "endo180", @@ -302659,7 +314953,9 @@ OMIM:612264 a owl:Class ; "urokinase-type plasminogen activator receptor-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9902 ; - skos:exactMatch HGNC_symbol:MRC2 ; + skos:exactMatch UMLS:C1424610, + HGNC:16875, + HGNC_symbol:MRC2 ; biolink:category biolink:Gene . OMIM:612265 a owl:Class ; @@ -302667,7 +314963,6 @@ OMIM:612265 a owl:Class ; IAO:0000142 PMID:14585507, PMID:19015244, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1825255 ; oboInOwl:hasExactSynonym "FAM120A", "chromosome 9 open reading frame 10", "family with sequence similarity 120, member a", @@ -302675,7 +314970,9 @@ OMIM:612265 a owl:Class ; "oxidative stress-associated src activator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23196 ; - skos:exactMatch HGNC_symbol:FAM120A ; + skos:exactMatch UMLS:C1825255, + HGNC:13247, + HGNC_symbol:FAM120A ; biolink:category biolink:Gene . OMIM:612266 a owl:Class ; @@ -302683,7 +314980,6 @@ OMIM:612266 a owl:Class ; IAO:0000142 PMID:11347906, PMID:14585507, PMID:17595322 ; - oboInOwl:hasDbXref UMLS:C1825257 ; oboInOwl:hasExactSynonym "FAM120B", "constitutive coactivator of pparg", "family with sequence similarity 120, member B", @@ -302691,7 +314987,9 @@ OMIM:612266 a owl:Class ; "pparg constitutive coactivator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84498 ; - skos:exactMatch HGNC_symbol:FAM120B ; + skos:exactMatch UMLS:C1825257, + HGNC:21109, + HGNC_symbol:FAM120B ; biolink:category biolink:Gene . OMIM:612268 a owl:Class ; @@ -302702,8 +315000,6 @@ OMIM:612268 a owl:Class ; PMID:31699823 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:615860 ; - oboInOwl:hasDbXref UMLS:C1823540, - UMLS:C4014501 ; oboInOwl:hasExactSynonym "TTLL5", "kiaa0998", "src1- and tif2-associated binding protein", @@ -302711,20 +315007,24 @@ OMIM:612268 a owl:Class ; "tubulin tyrosine ligase-like family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23093 ; - skos:exactMatch HGNC_symbol:TTLL5 ; + skos:exactMatch UMLS:C1823540, + UMLS:C4014501, + HGNC:19963, + HGNC_symbol:TTLL5 ; biolink:category biolink:Gene . OMIM:612270 a owl:Class ; rdfs:label "CDCA4" ; IAO:0000142 PMID:11482882, PMID:16984923 ; - oboInOwl:hasDbXref UMLS:C1422797 ; oboInOwl:hasExactSynonym "CDCA4", "cell division cycle-associated protein 4", "hematopoietic progenitor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55038 ; - skos:exactMatch HGNC_symbol:CDCA4 ; + skos:exactMatch UMLS:C1422797, + HGNC:14625, + HGNC_symbol:CDCA4 ; biolink:category biolink:Gene . OMIM:612272 a owl:Class ; @@ -302739,7 +315039,6 @@ OMIM:612275 a owl:Class ; rdfs:label "GGNBP2" ; IAO:0000142 PMID:11728448, PMID:15145523 ; - oboInOwl:hasDbXref UMLS:C1426189 ; oboInOwl:hasExactSynonym "GGNBP2", "dioxin-inducible factor 3", "gametogenetin-binding protein 2", @@ -302747,7 +315046,9 @@ OMIM:612275 a owl:Class ; "lzk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79893 ; - skos:exactMatch HGNC_symbol:GGNBP2 ; + skos:exactMatch UMLS:C1426189, + HGNC:19357, + HGNC_symbol:GGNBP2 ; biolink:category biolink:Gene . OMIM:612276 a owl:Class ; @@ -302756,14 +315057,15 @@ OMIM:612276 a owl:Class ; PMID:16024787 ; RO:0002525 CHR:9606chr1p34.3 ; RO:0003303 OMIM:619609 ; - oboInOwl:hasDbXref UMLS:C1823895 ; oboInOwl:hasExactSynonym "YRDC", "ischemia/reperfusion-inducible protein", "yrdc domain-containing protein", "yrdc, e. coli, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79693 ; - skos:exactMatch HGNC_symbol:YRDC ; + skos:exactMatch UMLS:C1823895, + HGNC:28905, + HGNC_symbol:YRDC ; biolink:category biolink:Gene . OMIM:612277 a owl:Class ; @@ -302777,13 +315079,14 @@ OMIM:612277 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr9q34.2 ; RO:0003303 OMIM:231050 ; - oboInOwl:hasDbXref UMLS:C1540185 ; oboInOwl:hasExactSynonym "ADAMTSL2", "adamts-like protein 2", "kiaa0605" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9719 ; - skos:exactMatch HGNC_symbol:ADAMTSL2 ; + skos:exactMatch UMLS:C1540185, + HGNC:14631, + HGNC_symbol:ADAMTSL2 ; biolink:category biolink:Gene . OMIM:612278 a owl:Class ; @@ -302801,10 +315104,10 @@ OMIM:612278 a owl:Class ; PMID:20106866, PMID:20360734, PMID:21278745 ; - oboInOwl:hasDbXref UMLS:C2677079 ; oboInOwl:hasExactSynonym "IBD19", "inflammatory bowel disease (crohn disease) 19" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2677079 ; biolink:category biolink:Disease . OMIM:612280 a owl:Class ; @@ -302841,26 +315144,28 @@ OMIM:612280 a owl:Class ; PMID:9762612 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:230000 ; - oboInOwl:hasDbXref UMLS:C1414857 ; oboInOwl:hasExactSynonym "FUCA1", "alpha-l-fucosidase 1", "fucosidase, alpha-l, 1", "fucosidase, alpha-l, tissue" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2517 ; - skos:exactMatch HGNC_symbol:FUCA1 ; + skos:exactMatch UMLS:C1414857, + HGNC:4006, + HGNC_symbol:FUCA1 ; biolink:category biolink:Gene . OMIM:612282 a owl:Class ; rdfs:label "ZNF804A" ; IAO:0000142 PMID:16713569 ; - oboInOwl:hasDbXref UMLS:C1824069 ; oboInOwl:hasExactSynonym "ZNF804A", "chromosome 2 open reading frame 10", "zinc finger protein 804a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91752 ; - skos:exactMatch HGNC_symbol:ZNF804A ; + skos:exactMatch UMLS:C1824069, + HGNC:21711, + HGNC_symbol:ZNF804A ; biolink:category biolink:Gene . OMIM:612283 a owl:Class ; @@ -302917,13 +315222,14 @@ OMIM:612283 a owl:Class ; PMID:9683579 ; RO:0002525 CHR:9606chr2q14.3 ; RO:0003303 OMIM:612304 ; - oboInOwl:hasDbXref UMLS:C1418943 ; oboInOwl:hasExactSynonym "PROC", "pc", "protein c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5624 ; - skos:exactMatch HGNC_symbol:PROC ; + skos:exactMatch UMLS:C1418943, + HGNC:9451, + HGNC_symbol:PROC ; biolink:category biolink:Gene . OMIM:612285 a owl:Class ; @@ -302932,62 +315238,66 @@ OMIM:612285 a owl:Class ; PMID:18950740, PMID:22241855, PMID:22246503 ; - oboInOwl:hasDbXref UMLS:C2676788, - ORPHA:2318 ; oboInOwl:hasExactSynonym "JBTS9", "joubert syndrome 9", "joubert syndrome 9/15, digenic" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C2676788, + ORPHA:2318 ; biolink:category biolink:Disease . OMIM:612294 a owl:Class ; rdfs:label "DEPDC7" ; IAO:0000142 PMID:10568747 ; - oboInOwl:hasDbXref UMLS:C1824916 ; oboInOwl:hasExactSynonym "DEPDC7", "dep domain-containing protein 7", "tr2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91614 ; - skos:exactMatch HGNC_symbol:DEPDC7 ; + skos:exactMatch UMLS:C1824916, + HGNC:29899, + HGNC_symbol:DEPDC7 ; biolink:category biolink:Gene . OMIM:612295 a owl:Class ; rdfs:label "ARL14EP" ; IAO:0000142 PMID:10568747, PMID:21458045 ; - oboInOwl:hasDbXref UMLS:C1824313 ; oboInOwl:hasExactSynonym "ARL14EP", "adp-ribosylation factor 7 effector protein", "adp-ribosylation factor-like gtpase 14 effector protein", "chromosome 11 open reading frame 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120534 ; - skos:exactMatch HGNC_symbol:ARL14EP ; + skos:exactMatch UMLS:C1824313, + HGNC:26798, + HGNC_symbol:ARL14EP ; biolink:category biolink:Gene . OMIM:612296 a owl:Class ; rdfs:label "LINC00294" ; IAO:0000142 PMID:10568747 ; - oboInOwl:hasDbXref UMLS:C2676768 ; oboInOwl:hasExactSynonym "LINC00294", "loc283267", "long intergenic noncoding RNA 294" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283267 ; - skos:exactMatch HGNC_symbol:LINC00294 ; + skos:exactMatch UMLS:C2676768, + HGNC:27456, + HGNC_symbol:LINC00294 ; biolink:category biolink:Gene . OMIM:612297 a owl:Class ; rdfs:label "C11ORF41" ; IAO:0000142 PMID:10568747 ; - oboInOwl:hasDbXref UMLS:C1824309 ; oboInOwl:hasExactSynonym "C11ORF41", "chromosome 11 open reading frame 41", "g2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25758 ; - skos:exactMatch HGNC_symbol:KIAA1549L ; + skos:exactMatch UMLS:C1824309, + HGNC:24836, + HGNC_symbol:KIAA1549L ; biolink:category biolink:Gene . OMIM:612298 a owl:Class ; @@ -302997,13 +315307,14 @@ OMIM:612298 a owl:Class ; PMID:26394807 ; RO:0002525 CHR:9606chr11p13 ; RO:0003303 OMIM:617142 ; - oboInOwl:hasDbXref UMLS:C1425953 ; oboInOwl:hasExactSynonym "TRIM44", "mc7", "tripartite motif-containing protein 44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54765 ; - skos:exactMatch HGNC_symbol:TRIM44 ; + skos:exactMatch UMLS:C1425953, + HGNC:19016, + HGNC_symbol:TRIM44 ; biolink:category biolink:Gene . OMIM:612299 a owl:Class ; @@ -303011,13 +315322,14 @@ OMIM:612299 a owl:Class ; IAO:0000142 PMID:10568747, PMID:15799966, PMID:23563313 ; - oboInOwl:hasDbXref UMLS:C1428439 ; oboInOwl:hasExactSynonym "COMMD9", "comm domain-containing protein 9", "copper metabolism murr1 domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29099 ; - skos:exactMatch HGNC_symbol:COMMD9 ; + skos:exactMatch UMLS:C1428439, + HGNC:25014, + HGNC_symbol:COMMD9 ; biolink:category biolink:Gene . OMIM:612301 a owl:Class ; @@ -303025,44 +315337,45 @@ OMIM:612301 a owl:Class ; IAO:0000142 PMID:15231021, PMID:18606301, PMID:19940926 ; - oboInOwl:hasDbXref UMLS:C2676766 ; oboInOwl:hasExactSynonym "OPTB7", "osteopetrosis, autosomal recessive 7", "osteopetrosis, osteoclast-poor, with hypogammaglobulinemia" ; rdfs:subClassOf OMIMPS:259700 ; + skos:exactMatch UMLS:C2676766 ; biolink:category biolink:Disease . OMIM:612302 a owl:Class ; rdfs:label "ADGRA1" ; IAO:0000142 PMID:11347906, PMID:12565841 ; - oboInOwl:hasDbXref UMLS:C1422225 ; oboInOwl:hasExactSynonym "ADGRA1", "adhesion g protein-coupled receptor a1", "g protein-coupled receptor 123", "kiaa1828" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84435 ; - skos:exactMatch HGNC_symbol:ADGRA1 ; + skos:exactMatch UMLS:C1422225, + HGNC:13838, + HGNC_symbol:ADGRA1 ; biolink:category biolink:Gene . OMIM:612303 a owl:Class ; rdfs:label "ADGRA3" ; IAO:0000142 PMID:12565841 ; - oboInOwl:hasDbXref UMLS:C1422226 ; oboInOwl:hasExactSynonym "ADGRA3", "adhesion g protein-coupled receptor a3", "g protein-coupled receptor 125" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166647 ; - skos:exactMatch HGNC_symbol:ADGRA3 ; + skos:exactMatch UMLS:C1422226, + HGNC:13839, + HGNC_symbol:ADGRA3 ; biolink:category biolink:Gene . OMIM:612305 a owl:Class ; rdfs:label "ADGRE4P" ; IAO:0000142 PMID:12565841, PMID:16753812 ; - oboInOwl:hasDbXref UMLS:C1426107 ; oboInOwl:hasExactSynonym "ADGRE4P", "adhesion g protein-coupled receptor e4, pseudogene", "emr4, mouse, homolog of", @@ -303070,32 +315383,36 @@ OMIM:612305 a owl:Class ; "g protein-coupled receptor 127" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:326342 ; - skos:exactMatch HGNC_symbol:ADGRE4P ; + skos:exactMatch UMLS:C1426107, + HGNC:19240, + HGNC_symbol:ADGRE4P ; biolink:category biolink:Gene . OMIM:612307 a owl:Class ; rdfs:label "ADGRG7" ; IAO:0000142 PMID:12565841 ; - oboInOwl:hasDbXref UMLS:C1426108 ; oboInOwl:hasExactSynonym "ADGRG7", "adhesion g protein-coupled receptor g7", "g protein-coupled receptor 128" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84873 ; - skos:exactMatch HGNC_symbol:ADGRG7 ; + skos:exactMatch UMLS:C1426108, + HGNC:19241, + HGNC_symbol:ADGRG7 ; biolink:category biolink:Gene . OMIM:612308 a owl:Class ; rdfs:label "ZBTB4" ; IAO:0000142 PMID:10819331, PMID:16354688 ; - oboInOwl:hasDbXref UMLS:C1428295 ; oboInOwl:hasExactSynonym "ZBTB4", "kiaa1538", "zinc finger and btb domain-containing 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57659 ; - skos:exactMatch HGNC_symbol:ZBTB4 ; + skos:exactMatch UMLS:C1428295, + HGNC:23847, + HGNC_symbol:ZBTB4 ; biolink:category biolink:Gene . OMIM:612309 a owl:Class ; @@ -303165,7 +315482,6 @@ OMIM:612309 a owl:Class ; PMID:9759618 ; RO:0002525 CHR:9606chr1q24.2 ; RO:0003303 OMIM:188055 ; - oboInOwl:hasDbXref UMLS:C1414509 ; oboInOwl:hasExactSynonym "F5", "activated protein c cofactor", "apc cofactor", @@ -303175,18 +315491,21 @@ OMIM:612309 a owl:Class ; "protein c cofactor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2153 ; - skos:exactMatch HGNC_symbol:F5 ; + skos:exactMatch UMLS:C1414509, + HGNC:3542, + HGNC_symbol:F5 ; biolink:category biolink:Gene . OMIM:612314 a owl:Class ; rdfs:label "GSTO2" ; IAO:0000142 PMID:12618591 ; - oboInOwl:hasDbXref UMLS:C1427885 ; oboInOwl:hasExactSynonym "GSTO2", "glutathione s-transferase, omega-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119391 ; - skos:exactMatch HGNC_symbol:GSTO2 ; + skos:exactMatch UMLS:C1427885, + HGNC:23064, + HGNC_symbol:GSTO2 ; biolink:category biolink:Gene . OMIM:612315 a owl:Class ; @@ -303197,7 +315516,6 @@ OMIM:612315 a owl:Class ; PMID:7543104 ; RO:0002525 CHR:9606chr12q13.13 ; RO:0003303 OMIM:615735 ; - oboInOwl:hasDbXref UMLS:C1426919 ; oboInOwl:hasExactSynonym "KRT6C", "k6c", "kb12", @@ -303206,7 +315524,9 @@ OMIM:612315 a owl:Class ; "keratin 6h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286887 ; - skos:exactMatch HGNC_symbol:KRT6C ; + skos:exactMatch UMLS:C1426919, + HGNC:20406, + HGNC_symbol:KRT6C ; biolink:category biolink:Gene . OMIM:612316 a owl:Class ; @@ -303224,15 +315544,16 @@ OMIM:612316 a owl:Class ; PMID:32004445 ; RO:0002525 CHR:9606chr1p36.33 ; RO:0003303 OMIM:618810 ; - oboInOwl:hasDbXref UMLS:C1428501, - UMLS:C4310677, - UMLS:C4310856, - UMLS:C5394137 ; oboInOwl:hasExactSynonym "ATAD3A", "atpase family, aaa domain-containing, member 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55210 ; - skos:exactMatch HGNC_symbol:ATAD3A ; + skos:exactMatch UMLS:C1428501, + UMLS:C4310677, + UMLS:C4310856, + UMLS:C5394137, + HGNC:25567, + HGNC_symbol:ATAD3A ; biolink:category biolink:Gene . OMIM:612317 a owl:Class ; @@ -303243,7 +315564,6 @@ OMIM:612317 a owl:Class ; PMID:17210950, PMID:18063578, PMID:20332122 ; - oboInOwl:hasDbXref UMLS:C1428335 ; oboInOwl:hasExactSynonym "ATAD3B", "aaa-tob3", "atpase family, aaa domain-containing, member 3b", @@ -303251,18 +315571,21 @@ OMIM:612317 a owl:Class ; "tob3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83858 ; - skos:exactMatch HGNC_symbol:ATAD3B ; + skos:exactMatch UMLS:C1428335, + HGNC:24007, + HGNC_symbol:ATAD3B ; biolink:category biolink:Gene . OMIM:612320 a owl:Class ; rdfs:label "CDCP2" ; IAO:0000142 PMID:16252231 ; - oboInOwl:hasDbXref UMLS:C1824686 ; oboInOwl:hasExactSynonym "CDCP2", "cub domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200008 ; - skos:exactMatch HGNC_symbol:CDCP2 ; + skos:exactMatch UMLS:C1824686, + HGNC:27297, + HGNC_symbol:CDCP2 ; biolink:category biolink:Gene . OMIM:612321 a owl:Class ; @@ -303278,22 +315601,22 @@ OMIM:612322 a owl:Class ; PMID:31944455 ; RO:0002525 CHR:9606chr2q33.3 ; RO:0003303 OMIM:618855 ; - oboInOwl:hasDbXref UMLS:C1825280, - UMLS:C5394293 ; oboInOwl:hasExactSynonym "FASTKD2", "fast kinase domain-containing protein 2", "fast kinase domains 2", "kiaa0971" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22868 ; - skos:exactMatch HGNC_symbol:FASTKD2 ; + skos:exactMatch UMLS:C1825280, + UMLS:C5394293, + HGNC:29160, + HGNC_symbol:FASTKD2 ; biolink:category biolink:Gene . OMIM:612323 a owl:Class ; rdfs:label "IMMP1L" ; IAO:0000142 PMID:15814844, PMID:16554811 ; - oboInOwl:hasDbXref UMLS:C1825596 ; oboInOwl:hasExactSynonym "IMMP1L", "imp1, s. cerevisiae, homolog of", "imp1-like", @@ -303301,20 +315624,23 @@ OMIM:612323 a owl:Class ; "inner mitochondrial membrane peptidase, subunit 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196294 ; - skos:exactMatch HGNC_symbol:IMMP1L ; + skos:exactMatch UMLS:C1825596, + HGNC:26317, + HGNC_symbol:IMMP1L ; biolink:category biolink:Gene . OMIM:612324 a owl:Class ; rdfs:label "CCDC34" ; IAO:0000142 PMID:10508479, PMID:16554811 ; - oboInOwl:hasDbXref UMLS:C1824558 ; oboInOwl:hasExactSynonym "CCDC34", "coiled-coil domain-containing protein 34", "ny-ren-41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91057 ; - skos:exactMatch HGNC_symbol:CCDC34 ; + skos:exactMatch UMLS:C1824558, + HGNC:25079, + HGNC_symbol:CCDC34 ; biolink:category biolink:Gene . OMIM:612325 a owl:Class ; @@ -303327,14 +315653,15 @@ OMIM:612325 a owl:Class ; PMID:29539279 ; RO:0002525 CHR:9606chr6p12.1 ; RO:0003303 OMIM:617924 ; - oboInOwl:hasDbXref UMLS:C1427425 ; oboInOwl:hasExactSynonym "ICK", "intestinal cell kinase", "kiaa0936", "mak-related kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22858 ; - skos:exactMatch HGNC_symbol:CILK1 ; + skos:exactMatch UMLS:C1427425, + HGNC:21219, + HGNC_symbol:CILK1 ; biolink:category biolink:Gene . OMIM:612326 a owl:Class ; @@ -303343,21 +315670,21 @@ OMIM:612326 a owl:Class ; PMID:12107429, PMID:16574069, PMID:18068114 ; - oboInOwl:hasDbXref UMLS:C1823255 ; oboInOwl:hasExactSynonym "TCF25", "kiaa1049", "nuclear localized protein 1", "transcription factor 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22980 ; - skos:exactMatch HGNC_symbol:TCF25 ; + skos:exactMatch UMLS:C1823255, + HGNC:29181, + HGNC_symbol:TCF25 ; biolink:category biolink:Gene . OMIM:612327 a owl:Class ; rdfs:label "MANEA" ; IAO:0000142 PMID:15677381, PMID:15760709 ; - oboInOwl:hasDbXref UMLS:C1427293 ; oboInOwl:hasExactSynonym "MANEA", "endo", "endo-alpha-1,2-mannosidase", @@ -303365,47 +315692,52 @@ OMIM:612327 a owl:Class ; "mannosidase, endo-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79694 ; - skos:exactMatch HGNC_symbol:MANEA ; + skos:exactMatch UMLS:C1427293, + HGNC:21072, + HGNC_symbol:MANEA ; biolink:category biolink:Gene . OMIM:612328 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12601173, PMID:16554811 ; - oboInOwl:hasDbXref UMLS:C1824597 ; oboInOwl:hasExactSynonym "coiled-coil domain-containing protein 73: ccdc73", "ny-sar-79" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:493860 ; - skos:exactMatch HGNC_symbol:CCDC73 ; + skos:exactMatch UMLS:C1824597, + HGNC:23261, + HGNC_symbol:CCDC73 ; biolink:category biolink:Gene . OMIM:612329 a owl:Class ; rdfs:label "MIR30A" ; IAO:0000142 PMID:17604727, PMID:18632683 ; - oboInOwl:hasDbXref UMLS:C1537736 ; oboInOwl:hasExactSynonym "MIR30A", "micro RNA 30a", "mirn30a", "mirna30a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407029 ; - skos:exactMatch HGNC_symbol:MIR30A ; + skos:exactMatch UMLS:C1537736, + HGNC:31624, + HGNC_symbol:MIR30A ; biolink:category biolink:Gene . OMIM:612330 a owl:Class ; rdfs:label "MIRN610" ; IAO:0000142 PMID:16505370, PMID:16554811 ; - oboInOwl:hasDbXref UMLS:C1826189 ; oboInOwl:hasExactSynonym "MIRN610", "micro RNA 610", "mir610", "mirna610" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693195 ; - skos:exactMatch HGNC_symbol:MIR610 ; + skos:exactMatch UMLS:C1826189, + HGNC:32866, + HGNC_symbol:MIR610 ; biolink:category biolink:Gene . OMIM:612331 a owl:Class ; @@ -303414,14 +315746,15 @@ OMIM:612331 a owl:Class ; PMID:11104771, PMID:16979770, PMID:9753324 ; - oboInOwl:hasDbXref UMLS:C1425076 ; oboInOwl:hasExactSynonym "LIN7B", "lin7, c. elegans, homolog of, B", "mammalian lin7 homolog 2", "vertebrate lin7 homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64130 ; - skos:exactMatch HGNC_symbol:LIN7B ; + skos:exactMatch UMLS:C1425076, + HGNC:17788, + HGNC_symbol:LIN7B ; biolink:category biolink:Gene . OMIM:612332 a owl:Class ; @@ -303432,14 +315765,15 @@ OMIM:612332 a owl:Class ; PMID:16554811, PMID:17942893, PMID:9753324 ; - oboInOwl:hasDbXref UMLS:C1425077 ; oboInOwl:hasExactSynonym "LIN7C", "lin7, c. elegans, homolog of, c", "mammalian lin7 homolog 3", "vertebrate lin7 homolog 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55327 ; - skos:exactMatch HGNC_symbol:LIN7C ; + skos:exactMatch UMLS:C1425077, + HGNC:17789, + HGNC_symbol:LIN7C ; biolink:category biolink:Gene . OMIM:612333 a owl:Class ; @@ -303448,7 +315782,6 @@ OMIM:612333 a owl:Class ; PMID:14624448, PMID:17654514, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1421977 ; oboInOwl:hasExactSynonym "PDCD11", "apoptosis-linked gene 4", "kiaa0185", @@ -303456,7 +315789,9 @@ OMIM:612333 a owl:Class ; "programmed cell death 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22984 ; - skos:exactMatch HGNC_symbol:PDCD11 ; + skos:exactMatch UMLS:C1421977, + HGNC:13408, + HGNC_symbol:PDCD11 ; biolink:category biolink:Gene . OMIM:612334 a owl:Class ; @@ -303465,13 +315800,14 @@ OMIM:612334 a owl:Class ; PMID:16605240, PMID:18067139, PMID:19041747 ; - oboInOwl:hasDbXref UMLS:C2239773 ; oboInOwl:hasExactSynonym "NAPEPLD", "n-acyl phosphatidylethanolamine phospholipase d", "n-acyl phosphatidylethanolamine-hydrolyzing phospholipase d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222236 ; - skos:exactMatch HGNC_symbol:NAPEPLD ; + skos:exactMatch UMLS:C2239773, + HGNC:21683, + HGNC_symbol:NAPEPLD ; biolink:category biolink:Gene . OMIM:612336 a owl:Class ; @@ -303499,17 +315835,16 @@ OMIM:612336 a owl:Class ; PMID:8035922, PMID:8247052, PMID:8497285 ; - oboInOwl:hasDbXref UMLS:C3278211 ; oboInOwl:hasExactSynonym "THPH5", "thrombophilia due to protein s deficiency, autosomal dominant" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C3278211 ; biolink:category biolink:Disease . OMIM:612338 a owl:Class ; rdfs:label "GGTLC1" ; IAO:0000142 PMID:18357469, PMID:7689219 ; - oboInOwl:hasDbXref UMLS:C1424278 ; oboInOwl:hasExactSynonym "GGTLC1", "gamma-glutamyltransferase, light chain 1", "ggt, iia ii-m", @@ -303517,7 +315852,9 @@ OMIM:612338 a owl:Class ; "ggtla4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92086 ; - skos:exactMatch HGNC_symbol:GGTLC1 ; + skos:exactMatch UMLS:C1424278, + HGNC:16437, + HGNC_symbol:GGTLC1 ; biolink:category biolink:Gene . OMIM:612339 a owl:Class ; @@ -303525,44 +315862,46 @@ OMIM:612339 a owl:Class ; IAO:0000142 PMID:18357469, PMID:7906515, PMID:8830654 ; - oboInOwl:hasDbXref UMLS:C2239489 ; oboInOwl:hasExactSynonym "GGTLC2", "gamma-glutamyltransferase, light chain 2", "ggt, iia 3", "ggtl4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91227 ; - skos:exactMatch HGNC_symbol:GGTLC2 ; + skos:exactMatch UMLS:C2239489, + HGNC:18596, + HGNC_symbol:GGTLC2 ; biolink:category biolink:Gene . OMIM:612340 a owl:Class ; rdfs:label "GGTLC3" ; IAO:0000142 PMID:18357469, PMID:7906515 ; - oboInOwl:hasDbXref UMLS:C2676726 ; oboInOwl:hasExactSynonym "GGTLC3", "gamma-glutamyltransferase, light chain 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728226 ; - skos:exactMatch HGNC_symbol:GGTLC3 ; + skos:exactMatch UMLS:C2676726, + HGNC:33426, + HGNC_symbol:GGTLC3 ; biolink:category biolink:Gene . OMIM:612341 a owl:Class ; rdfs:label "GGT6" ; IAO:0000142 PMID:18357469 ; - oboInOwl:hasDbXref UMLS:C1825344 ; oboInOwl:hasExactSynonym "GGT6", "gamma-glutamyltransferase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124975 ; - skos:exactMatch HGNC_symbol:GGT6 ; + skos:exactMatch UMLS:C1825344, + HGNC:26891, + HGNC_symbol:GGT6 ; biolink:category biolink:Gene . OMIM:612342 a owl:Class ; rdfs:label "GGT7" ; IAO:0000142 PMID:12270127, PMID:18357469 ; - oboInOwl:hasDbXref UMLS:C1415060 ; oboInOwl:hasExactSynonym "GGT7", "gamma-glutamyltransferase 7", "ggt4", @@ -303570,20 +315909,23 @@ OMIM:612342 a owl:Class ; "ggtl5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2686 ; - skos:exactMatch HGNC_symbol:GGT7 ; + skos:exactMatch UMLS:C1415060, + HGNC:4259, + HGNC_symbol:GGT7 ; biolink:category biolink:Gene . OMIM:612344 a owl:Class ; rdfs:label "ZNF385B" ; IAO:0000142 PMID:17352388, PMID:18413373 ; - oboInOwl:hasDbXref UMLS:C1428573 ; oboInOwl:hasExactSynonym "ZNF385B", "zinc finger protein 385b", "zinc finger protein 533" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151126 ; - skos:exactMatch HGNC_symbol:ZNF385B ; + skos:exactMatch UMLS:C1428573, + HGNC:26332, + HGNC_symbol:ZNF385B ; biolink:category biolink:Gene . OMIM:612345 a owl:Class ; @@ -303592,8 +315934,8 @@ OMIM:612345 a owl:Class ; PMID:18413373, PMID:19248183 ; RO:0002525 CHR:9606chr2q31.2 ; - oboInOwl:hasDbXref UMLS:C2676724 ; oboInOwl:hasExactSynonym "chromosome 2q31.2 deletion syndrome" ; + skos:exactMatch UMLS:C2676724 ; biolink:category biolink:Disease . OMIM:612346 a owl:Class ; @@ -303616,23 +315958,24 @@ OMIM:612346 a owl:Class ; PMID:9738450 ; RO:0002525 CHR:9606chr22q11.23 ; RO:0003303 OMIM:231950 ; - oboInOwl:hasDbXref UMLS:C1415053 ; oboInOwl:hasExactSynonym "GGT1", "gamma-glutamyltransferase 1", "ggt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2678 ; - skos:exactMatch HGNC_symbol:GGT1 ; + skos:exactMatch UMLS:C1415053, + HGNC:4250, + HGNC_symbol:GGT1 ; biolink:category biolink:Gene . OMIM:612347 a owl:Class ; rdfs:label "jervell and lange-nielsen syndrome 2" ; IAO:0000142 PMID:9341873, PMID:9445165 ; - oboInOwl:hasDbXref UMLS:C2676723 ; oboInOwl:hasExactSynonym "JLNS2", "jervell and lange-nielsen syndrome 2" ; rdfs:subClassOf OMIMPS:220400 ; + skos:exactMatch UMLS:C2676723 ; biolink:category biolink:Disease . OMIM:612349 a owl:Class ; @@ -303765,15 +316108,16 @@ OMIM:612349 a owl:Class ; PMID:9950317 ; RO:0002525 CHR:9606chr12q23.2 ; RO:0003303 OMIM:261600 ; - oboInOwl:hasDbXref UMLS:C0751434, - UMLS:C1418251, - UMLS:C2676533, - UMLS:C2678416 ; oboInOwl:hasExactSynonym "PAH", "phenylalanine hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5053 ; - skos:exactMatch HGNC_symbol:PAH ; + skos:exactMatch UMLS:C0751434, + UMLS:C1418251, + UMLS:C2676533, + UMLS:C2678416, + HGNC:8582, + HGNC_symbol:PAH ; biolink:category biolink:Gene . OMIM:612351 a owl:Class ; @@ -303782,12 +316126,13 @@ OMIM:612351 a owl:Class ; PMID:24780628, PMID:26550799, PMID:28710361 ; - oboInOwl:hasDbXref UMLS:C2676509 ; oboInOwl:hasExactSynonym "FOXI3", "forkhead box i3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344167 ; - skos:exactMatch HGNC_symbol:FOXI3 ; + skos:exactMatch UMLS:C2676509, + HGNC:35123, + HGNC_symbol:FOXI3 ; biolink:category biolink:Gene . OMIM:612352 a owl:Class ; @@ -303796,7 +316141,6 @@ OMIM:612352 a owl:Class ; PMID:12810066, PMID:12943674, PMID:18758443 ; - oboInOwl:hasDbXref UMLS:C1823130 ; oboInOwl:hasExactSynonym "STAMBPL1", "amsh-family protein", "amsh-like protein", @@ -303804,14 +316148,16 @@ OMIM:612352 a owl:Class ; "stam-binding protein-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57559 ; - skos:exactMatch HGNC_symbol:STAMBPL1 ; + skos:exactMatch UMLS:C1823130, + HGNC:24105, + HGNC_symbol:STAMBPL1 ; biolink:category biolink:Gene . OMIM:612355 a owl:Class ; IAO:0000142 PMID:18241670 ; IAO:0100001 OMIM:608881 ; - oboInOwl:hasDbXref UMLS:C1825988 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1825988 . OMIM:612358 a owl:Class ; rdfs:label "KNG1" ; @@ -303831,7 +316177,6 @@ OMIM:612358 a owl:Class ; PMID:7901207 ; RO:0002525 CHR:9606chr3q27.3 ; RO:0003303 OMIM:228960 ; - oboInOwl:hasDbXref UMLS:C1537501 ; oboInOwl:hasExactSynonym "KNG1", "bradykinin", "fitzgerald factor", @@ -303843,7 +316188,9 @@ OMIM:612358 a owl:Class ; "williams factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3827 ; - skos:exactMatch HGNC_symbol:KNG1 ; + skos:exactMatch UMLS:C1537501, + HGNC:6383, + HGNC_symbol:KNG1 ; biolink:category biolink:Gene . OMIM:612359 a owl:Class ; @@ -303857,13 +316204,14 @@ OMIM:612360 a owl:Class ; PMID:21607760 ; RO:0002525 CHR:9606chr20p12.1 ; RO:0003303 OMIM:618238 ; - oboInOwl:hasDbXref UMLS:C1423817 ; oboInOwl:hasExactSynonym "NADH dehydrogenase (ubiquinone) complex i, assembly factor 5", "NDUFAF5", "chromosome 20 open reading frame 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79133 ; - skos:exactMatch HGNC_symbol:NDUFAF5 ; + skos:exactMatch UMLS:C1423817, + HGNC:15899, + HGNC_symbol:NDUFAF5 ; biolink:category biolink:Gene . OMIM:612363 a owl:Class ; @@ -303871,9 +316219,9 @@ OMIM:612363 a owl:Class ; IAO:0000142 PMID:11148181, PMID:12194918, PMID:18940312 ; - oboInOwl:hasDbXref UMLS:C2676497 ; oboInOwl:hasExactSynonym "alanine aminotransferase, plasma level of, quantitative trait locus 1", "altqtl1" ; + skos:exactMatch UMLS:C2676497 ; biolink:category biolink:Disease . OMIM:612364 a owl:Class ; @@ -303881,9 +316229,9 @@ OMIM:612364 a owl:Class ; IAO:0000142 PMID:18940312, PMID:19542081, PMID:22001757 ; - oboInOwl:hasDbXref UMLS:C2676496 ; oboInOwl:hasExactSynonym "alanine aminotransferase, plasma level of, quantitative trait locus 2", "altqtl2" ; + skos:exactMatch UMLS:C2676496 ; biolink:category biolink:Disease . OMIM:612365 a owl:Class ; @@ -303892,17 +316240,17 @@ OMIM:612365 a owl:Class ; PMID:12194918, PMID:18940312, PMID:22001757 ; - oboInOwl:hasDbXref UMLS:C2676495 ; oboInOwl:hasExactSynonym "gamma glutamyltransferase, plasma level of, quantitative trait locus 1", "ggtqtl1" ; + skos:exactMatch UMLS:C2676495 ; biolink:category biolink:Disease . OMIM:612366 a owl:Class ; rdfs:label "gamma glutamyltransferase, plasma level of, quantitative trait locus 2" ; IAO:0000142 PMID:18940312 ; - oboInOwl:hasDbXref UMLS:C2676494 ; oboInOwl:hasExactSynonym "gamma glutamyltransferase, plasma level of, quantitative trait locus 2", "ggtqtl2" ; + skos:exactMatch UMLS:C2676494 ; biolink:category biolink:Disease . OMIM:612373 a owl:Class ; @@ -303931,12 +316279,13 @@ OMIM:612373 a owl:Class ; PMID:9545394 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:602782 ; - oboInOwl:hasDbXref UMLS:C1427913 ; oboInOwl:hasExactSynonym "equilibrative nucleoside transporter 3", "solute carrier family 29 (nucleoside transporter), member 3: slc29a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55315 ; - skos:exactMatch HGNC_symbol:SLC29A3 ; + skos:exactMatch UMLS:C1427913, + HGNC:23096, + HGNC_symbol:SLC29A3 ; biolink:category biolink:Gene . OMIM:612374 a owl:Class ; @@ -303977,8 +316326,6 @@ OMIM:612374 a owl:Class ; PMID:32877915 ; RO:0002525 CHR:9606chr5q31.2 ; RO:0003303 OMIM:615934 ; - oboInOwl:hasDbXref UMLS:C1823437, - UMLS:C4014722 ; oboInOwl:hasExactSynonym "STING1", "endoplasmic reticulum interferon stimulator", "mediator of irf3 activation", @@ -303988,19 +316335,23 @@ OMIM:612374 a owl:Class ; "transmembrane protein 173" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340061 ; - skos:exactMatch HGNC_symbol:STING1 ; + skos:exactMatch UMLS:C1823437, + UMLS:C4014722, + HGNC:27962, + HGNC_symbol:STING1 ; biolink:category biolink:Gene . OMIM:612375 a owl:Class ; rdfs:label "AIDA" ; IAO:0000142 PMID:17681137 ; - oboInOwl:hasDbXref UMLS:C1823700 ; oboInOwl:hasExactSynonym "AIDA", "axin interactor, dorsalization-associated", "axin-interacting protein and dorsalization antagonist" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64853 ; - skos:exactMatch HGNC_symbol:AIDA ; + skos:exactMatch UMLS:C1823700, + HGNC:25761, + HGNC_symbol:AIDA ; biolink:category biolink:Gene . OMIM:612377 a owl:Class ; @@ -304009,76 +316360,81 @@ OMIM:612377 a owl:Class ; PMID:15799966, PMID:16573520, PMID:21778237 ; - oboInOwl:hasDbXref UMLS:C1428336 ; oboInOwl:hasExactSynonym "COMMD6", "comm domain-containing protein 6", "copper metabolism murr1 domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170622 ; - skos:exactMatch HGNC_symbol:COMMD6 ; + skos:exactMatch UMLS:C1428336, + HGNC:24015, + HGNC_symbol:COMMD6 ; biolink:category biolink:Gene . OMIM:612379 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iq" ; IAO:0000142 PMID:18271001, PMID:20637498 ; - oboInOwl:hasDbXref UMLS:C4317224 ; oboInOwl:hasExactSynonym "CDG1Q", "cdg iq", "coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities", "congenital disorder of glycosylation, iia iq" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C4317224 ; biolink:category biolink:Disease . OMIM:612382 a owl:Class ; rdfs:label "MED10" ; IAO:0000142 PMID:10882111, PMID:12584197 ; - oboInOwl:hasDbXref UMLS:C1825959 ; oboInOwl:hasExactSynonym "MED10", "mediator complex subunit 10", "nut2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84246 ; - skos:exactMatch HGNC_symbol:MED10 ; + skos:exactMatch UMLS:C1825959, + HGNC:28760, + HGNC_symbol:MED10 ; biolink:category biolink:Gene . OMIM:612383 a owl:Class ; rdfs:label "MED11" ; IAO:0000142 PMID:12584197 ; - oboInOwl:hasDbXref UMLS:C1825960 ; oboInOwl:hasExactSynonym "MED11", "hspc296", "mediator complex subunit 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400569 ; - skos:exactMatch HGNC_symbol:MED11 ; + skos:exactMatch UMLS:C1825960, + HGNC:32687, + HGNC_symbol:MED11 ; biolink:category biolink:Gene . OMIM:612384 a owl:Class ; rdfs:label "MED18" ; IAO:0000142 PMID:12584197 ; - oboInOwl:hasDbXref UMLS:C1537679 ; oboInOwl:hasExactSynonym "MED18", "mediator complex subunit 18", "trap/mediator complex subunit p28b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54797 ; - skos:exactMatch HGNC_symbol:MED18 ; + skos:exactMatch UMLS:C1537679, + HGNC:25944, + HGNC_symbol:MED18 ; biolink:category biolink:Gene . OMIM:612385 a owl:Class ; rdfs:label "MED19" ; IAO:0000142 PMID:12584197, PMID:9417904 ; - oboInOwl:hasDbXref UMLS:C1537680 ; oboInOwl:hasExactSynonym "MED19", "dt2p1g7", "lung cancer metastasis-related protein 1", "mediator complex subunit 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219541 ; - skos:exactMatch HGNC_symbol:MED19 ; + skos:exactMatch UMLS:C1537680, + HGNC:29600, + HGNC_symbol:MED19 ; biolink:category biolink:Gene . OMIM:612386 a owl:Class ; @@ -304112,8 +316468,6 @@ OMIM:612386 a owl:Class ; PMID:9649563 ; RO:0002525 CHR:9606chr18q21.31 ; RO:0003303 OMIM:177000 ; - oboInOwl:hasDbXref UMLS:C1414580, - UMLS:C4692546 ; oboInOwl:hasExactSynonym "FECH", "ferrochelatase", "heme synthase", @@ -304121,7 +316475,10 @@ OMIM:612386 a owl:Class ; "iron chelatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2235 ; - skos:exactMatch HGNC_symbol:FECH ; + skos:exactMatch UMLS:C1414580, + UMLS:C4692546, + HGNC:3647, + HGNC_symbol:FECH ; biolink:category biolink:Gene . OMIM:612391 a owl:Class ; @@ -304140,22 +316497,22 @@ OMIM:612392 a owl:Class ; PMID:33097395 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:618239 ; - oboInOwl:hasDbXref UMLS:C1824247, - UMLS:C4748786, - UMLS:C5394473 ; oboInOwl:hasExactSynonym "NADH dehydrogenase (ubiquinone) complex i, assembly factor 6", "NDUFAF6", "chromosome 8 open reading frame 38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137682 ; - skos:exactMatch HGNC_symbol:NDUFAF6 ; + skos:exactMatch UMLS:C1824247, + UMLS:C4748786, + UMLS:C5394473, + HGNC:28625, + HGNC_symbol:NDUFAF6 ; biolink:category biolink:Gene . OMIM:612393 a owl:Class ; rdfs:label "WHAMM" ; IAO:0000142 PMID:11853319, PMID:18614018 ; - oboInOwl:hasDbXref UMLS:C1823852 ; oboInOwl:hasExactSynonym "WHAMM", "kiaa1971", "was protein homolog associated with actin, golgi membranes, and microtubules", @@ -304164,7 +316521,9 @@ OMIM:612393 a owl:Class ; "wh2 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123720 ; - skos:exactMatch HGNC_symbol:WHAMM ; + skos:exactMatch UMLS:C1823852, + HGNC:30493, + HGNC_symbol:WHAMM ; biolink:category biolink:Gene . OMIM:612395 a owl:Class ; @@ -304177,7 +316536,6 @@ OMIM:612395 a owl:Class ; PMID:9427222 ; RO:0002525 CHR:9606chr22q13.33 ; RO:0003303 OMIM:602541 ; - oboInOwl:hasDbXref UMLS:C1538453 ; oboInOwl:hasExactSynonym "CHKB", "choline kinase, beta", "choline kinase-like protein", @@ -304186,14 +316544,15 @@ OMIM:612395 a owl:Class ; "ethanolamine kinase, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1120 ; - skos:exactMatch HGNC_symbol:CHKB ; + skos:exactMatch UMLS:C1538453, + HGNC:1938, + HGNC_symbol:CHKB ; biolink:category biolink:Gene . OMIM:612397 a owl:Class ; rdfs:label "COL6A4P1" ; IAO:0000142 PMID:18276594, PMID:18622395 ; - oboInOwl:hasDbXref UMLS:C2700407 ; oboInOwl:hasExactSynonym "COL6A4P1", "collagen, iia vi, alpha-4, pseudogene 1", "diva", @@ -304201,7 +316560,9 @@ OMIM:612397 a owl:Class ; "loc344875" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344875 ; - skos:exactMatch HGNC_symbol:COL6A4P1 ; + skos:exactMatch UMLS:C2700407, + HGNC:33484, + HGNC_symbol:COL6A4P1 ; biolink:category biolink:Gene . OMIM:612398 a owl:Class ; @@ -304209,13 +316570,14 @@ OMIM:612398 a owl:Class ; IAO:0000142 PMID:10887961, PMID:18804435, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1425403 ; oboInOwl:hasExactSynonym "RAB21", "kiaa0118", "rab-associated protein rab21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23011 ; - skos:exactMatch HGNC_symbol:RAB21 ; + skos:exactMatch UMLS:C1425403, + HGNC:18263, + HGNC_symbol:RAB21 ; biolink:category biolink:Gene . OMIM:612399 a owl:Class ; @@ -304227,27 +316589,29 @@ OMIM:612399 a owl:Class ; PMID:26537248 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:616814 ; - oboInOwl:hasDbXref UMLS:C1539970, - UMLS:C4225197 ; oboInOwl:hasExactSynonym "TLE6", "groucho-related gene 6", "tle family member 6, subcortical maternal complex member", "transducin-like enhancer of split 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79816 ; - skos:exactMatch HGNC_symbol:TLE6 ; + skos:exactMatch UMLS:C1539970, + UMLS:C4225197, + HGNC:30788, + HGNC_symbol:TLE6 ; biolink:category biolink:Gene . OMIM:612402 a owl:Class ; rdfs:label "ALS2CL" ; IAO:0000142 PMID:15388334, PMID:17239822 ; - oboInOwl:hasDbXref UMLS:C1427028 ; oboInOwl:hasExactSynonym "ALS2CL", "als2 c-terminal-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259173 ; - skos:exactMatch HGNC_symbol:ALS2CL ; + skos:exactMatch UMLS:C1427028, + HGNC:20605, + HGNC_symbol:ALS2CL ; biolink:category biolink:Gene . OMIM:612403 a owl:Class ; @@ -304255,47 +316619,51 @@ OMIM:612403 a owl:Class ; IAO:0000142 PMID:15033445, PMID:17628721, PMID:32554701 ; - oboInOwl:hasDbXref UMLS:C1428270 ; oboInOwl:hasExactSynonym "RASL11A", "ras-like, family 11, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387496 ; - skos:exactMatch HGNC_symbol:RASL11A ; + skos:exactMatch UMLS:C1428270, + HGNC:23802, + HGNC_symbol:RASL11A ; biolink:category biolink:Gene . OMIM:612404 a owl:Class ; rdfs:label "RASL11B" ; IAO:0000142 PMID:15033445, PMID:17628721 ; - oboInOwl:hasDbXref UMLS:C1428271 ; oboInOwl:hasExactSynonym "RASL11B", "ras-like, family 11, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65997 ; - skos:exactMatch HGNC_symbol:RASL11B ; + skos:exactMatch UMLS:C1428271, + HGNC:23804, + HGNC_symbol:RASL11B ; biolink:category biolink:Gene . OMIM:612405 a owl:Class ; rdfs:label "ARL9" ; IAO:0000142 PMID:15033445 ; - oboInOwl:hasDbXref UMLS:C1428141 ; oboInOwl:hasExactSynonym "ARL9", "adp-ribosylation factor-like gtpase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132946 ; - skos:exactMatch HGNC_symbol:ARL9 ; + skos:exactMatch UMLS:C1428141, + HGNC:23592, + HGNC_symbol:ARL9 ; biolink:category biolink:Gene . OMIM:612407 a owl:Class ; rdfs:label "RGS21" ; IAO:0000142 PMID:15066150, PMID:16302027 ; - oboInOwl:hasDbXref UMLS:C1538836 ; oboInOwl:hasExactSynonym "RGS21", "regulator of g protein signaling 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:431704 ; - skos:exactMatch HGNC_symbol:RGS21 ; + skos:exactMatch UMLS:C1538836, + HGNC:26839, + HGNC_symbol:RGS21 ; biolink:category biolink:Gene . OMIM:612408 a owl:Class ; @@ -304304,13 +316672,14 @@ OMIM:612408 a owl:Class ; PMID:11790299, PMID:16148043, PMID:29483655 ; - oboInOwl:hasDbXref UMLS:C1426856 ; oboInOwl:hasExactSynonym "PSPC1", "paraspeckle component 1", "paraspeckle protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55269 ; - skos:exactMatch HGNC_symbol:PSPC1 ; + skos:exactMatch UMLS:C1426856, + HGNC:20320, + HGNC_symbol:PSPC1 ; biolink:category biolink:Gene . OMIM:612409 a owl:Class ; @@ -304318,7 +316687,6 @@ OMIM:612409 a owl:Class ; IAO:0000142 PMID:11443112, PMID:11790299, PMID:16227627 ; - oboInOwl:hasDbXref UMLS:C1422492 ; oboInOwl:hasExactSynonym "RBM14", "coactivator activator", "paraspeckle protein 2", @@ -304326,7 +316694,9 @@ OMIM:612409 a owl:Class ; "syt-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10432 ; - skos:exactMatch HGNC_symbol:RBM14 ; + skos:exactMatch UMLS:C1422492, + HGNC:14219, + HGNC_symbol:RBM14 ; biolink:category biolink:Gene . OMIM:612411 a owl:Class ; @@ -304342,14 +316712,15 @@ OMIM:612411 a owl:Class ; PMID:2624276 ; RO:0002525 CHR:9606chr4q28.1 ; RO:0003303 OMIM:615546 ; - oboInOwl:hasDbXref UMLS:C1427920 ; oboInOwl:hasExactSynonym "FAT4", "fat atypical cadherin 4", "fat tumor suppressor, drosophila, homolog of, 4", "fatj" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79633 ; - skos:exactMatch HGNC_symbol:FAT4 ; + skos:exactMatch UMLS:C1427920, + HGNC:23109, + HGNC_symbol:FAT4 ; biolink:category biolink:Gene . OMIM:612412 a owl:Class ; @@ -304358,25 +316729,27 @@ OMIM:612412 a owl:Class ; PMID:18805990, PMID:30026308, PMID:30177775 ; - oboInOwl:hasDbXref UMLS:C1412978, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "SPATC1L", "chromosome 21 open reading frame 56", "spermatogenesis and centriole-associated protein 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84221 ; - skos:exactMatch HGNC_symbol:SPATC1L ; + skos:exactMatch UMLS:C1412978, + UMLS:C2986382, + HGNC:1298, + HGNC_symbol:SPATC1L ; biolink:category biolink:Gene . OMIM:612413 a owl:Class ; rdfs:label "RBM7" ; IAO:0000142 PMID:12634307 ; - oboInOwl:hasDbXref UMLS:C1419302 ; oboInOwl:hasExactSynonym "RBM7", "rna-binding motif protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10179 ; - skos:exactMatch HGNC_symbol:RBM7 ; + skos:exactMatch UMLS:C1419302, + HGNC:9904, + HGNC_symbol:RBM7 ; biolink:category biolink:Gene . OMIM:612414 a owl:Class ; @@ -304388,7 +316761,6 @@ OMIM:612414 a owl:Class ; PMID:18953341 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:611451 ; - oboInOwl:hasDbXref UMLS:C2676276 ; oboInOwl:hasExactSynonym "LRTOMT", "catechol-o-methyl-transferase-2", "leucine-rich repeat-containing protein 51", @@ -304397,7 +316769,9 @@ OMIM:612414 a owl:Class ; "leucine-rich transmembrane o-methyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220074 ; - skos:exactMatch HGNC_symbol:LRTOMT ; + skos:exactMatch UMLS:C2676276, + HGNC:25033, + HGNC_symbol:LRTOMT ; biolink:category biolink:Gene . OMIM:612415 a owl:Class ; @@ -304406,12 +316780,13 @@ OMIM:612415 a owl:Class ; PMID:12323076, PMID:12450215, PMID:8126105 ; - oboInOwl:hasDbXref UMLS:C1419194 ; oboInOwl:hasExactSynonym "RAB24", "ras-associated protein 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53917 ; - skos:exactMatch HGNC_symbol:RAB24 ; + skos:exactMatch UMLS:C1419194, + HGNC:9765, + HGNC_symbol:RAB24 ; biolink:category biolink:Gene . OMIM:612418 a owl:Class ; @@ -304423,32 +316798,33 @@ OMIM:612418 a owl:Class ; PMID:30950220 ; RO:0002525 CHR:9606chr8q21.11 ; RO:0003303 OMIM:614052 ; - oboInOwl:hasDbXref UMLS:C1823334, - UMLS:C3279699 ; oboInOwl:hasExactSynonym "TMEM70", "transmembrane protein 70" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54968 ; - skos:exactMatch HGNC_symbol:TMEM70 ; + skos:exactMatch UMLS:C1823334, + UMLS:C3279699, + HGNC:26050, + HGNC_symbol:TMEM70 ; biolink:category biolink:Gene . OMIM:612419 a owl:Class ; rdfs:label "CILP2" ; IAO:0000142 PMID:12746903, PMID:21880736 ; - oboInOwl:hasDbXref UMLS:C1428358 ; oboInOwl:hasExactSynonym "CILP2", "cartilage intermediate layer protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148113 ; - skos:exactMatch HGNC_symbol:CILP2 ; + skos:exactMatch UMLS:C1428358, + HGNC:24213, + HGNC_symbol:CILP2 ; biolink:category biolink:Gene . OMIM:612420 a owl:Class ; rdfs:label "AFAP1L2" ; IAO:0000142 PMID:11572484, PMID:17412687 ; - oboInOwl:hasDbXref UMLS:C1428531 ; oboInOwl:hasExactSynonym "AFAP1L2", "actin filament-associated protein 1-like protein 2", "afap1-like protein 2", @@ -304456,7 +316832,9 @@ OMIM:612420 a owl:Class ; "xb130" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84632 ; - skos:exactMatch HGNC_symbol:AFAP1L2 ; + skos:exactMatch UMLS:C1428531, + HGNC:25901, + HGNC_symbol:AFAP1L2 ; biolink:category biolink:Gene . OMIM:612422 a owl:Class ; @@ -304464,10 +316842,10 @@ OMIM:612422 a owl:Class ; IAO:0000142 PMID:16651346, PMID:18651846, PMID:8205619 ; - oboInOwl:hasDbXref UMLS:C2676271 ; oboInOwl:hasExactSynonym "RCM3", "cardiomyopathy, familial restrictive, 3" ; rdfs:subClassOf OMIMPS:115210 ; + skos:exactMatch UMLS:C2676271 ; biolink:category biolink:Disease . OMIM:612424 a owl:Class ; @@ -304476,14 +316854,15 @@ OMIM:612424 a owl:Class ; PMID:18976725 ; RO:0002525 CHR:9606chr6q12 ; RO:0003303 OMIM:602772 ; - oboInOwl:hasDbXref UMLS:C1427605 ; oboInOwl:hasExactSynonym "EYS", "eyes shut homolog", "eyes shut, drosophila, homolog of", "spacemaker" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:346007 ; - skos:exactMatch HGNC_symbol:EYS ; + skos:exactMatch UMLS:C1427605, + HGNC:21555, + HGNC_symbol:EYS ; biolink:category biolink:Gene . OMIM:612425 a owl:Class ; @@ -304493,14 +316872,15 @@ OMIM:612425 a owl:Class ; PMID:17485487, PMID:18765791, PMID:32322060 ; - oboInOwl:hasDbXref UMLS:C1429002 ; oboInOwl:hasExactSynonym "SGOL2", "shugoshin 2", "shugoshin-like 2", "tripin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151246 ; - skos:exactMatch HGNC_symbol:SGO2 ; + skos:exactMatch UMLS:C1429002, + HGNC:30812, + HGNC_symbol:SGO2 ; biolink:category biolink:Gene . OMIM:612426 a owl:Class ; @@ -304508,72 +316888,77 @@ OMIM:612426 a owl:Class ; IAO:0000142 PMID:18923082, PMID:18923083, PMID:27977684 ; - oboInOwl:hasDbXref UMLS:C1824428 ; oboInOwl:hasExactSynonym "RMI2", "blm-associated protein, 18-kd", "chromosome 16 open reading frame 75", "recq-mediated genome instability 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116028 ; - skos:exactMatch HGNC_symbol:RMI2 ; + skos:exactMatch UMLS:C1824428, + HGNC:28349, + HGNC_symbol:RMI2 ; biolink:category biolink:Gene . OMIM:612427 a owl:Class ; rdfs:label "RBM25" ; IAO:0000142 PMID:17560998 ; - oboInOwl:hasDbXref UMLS:C1538791 ; oboInOwl:hasExactSynonym "RBM25", "arg/glu/asp-rich protein, 120-kd", "rna-binding motif protein 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58517 ; - skos:exactMatch HGNC_symbol:RBM25 ; + skos:exactMatch UMLS:C1538791, + HGNC:23244, + HGNC_symbol:RBM25 ; biolink:category biolink:Gene . OMIM:612428 a owl:Class ; rdfs:label "RBM38" ; IAO:0000142 PMID:17050675 ; - oboInOwl:hasDbXref UMLS:C1826780 ; oboInOwl:hasExactSynonym "RBM38", "rna-binding motif protein 38", "rnpc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55544 ; - skos:exactMatch HGNC_symbol:RBM38 ; + skos:exactMatch UMLS:C1826780, + HGNC:15818, + HGNC_symbol:RBM38 ; biolink:category biolink:Gene . OMIM:612429 a owl:Class ; rdfs:label "ZNF300" ; IAO:0000142 PMID:14746915, PMID:17541838 ; - oboInOwl:hasDbXref UMLS:C1421782 ; oboInOwl:hasExactSynonym "ZNF300", "zinc finger protein 300" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91975 ; - skos:exactMatch HGNC_symbol:ZNF300 ; + skos:exactMatch UMLS:C1421782, + HGNC:13091, + HGNC_symbol:ZNF300 ; biolink:category biolink:Gene . OMIM:612430 a owl:Class ; rdfs:label "RBM22" ; IAO:0000142 PMID:15616564, PMID:17045351 ; - oboInOwl:hasDbXref UMLS:C1538787 ; oboInOwl:hasExactSynonym "RBM22", "rna-binding motif protein 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55696 ; - skos:exactMatch HGNC_symbol:RBM22 ; + skos:exactMatch UMLS:C1538787, + HGNC:25503, + HGNC_symbol:RBM22 ; biolink:category biolink:Gene . OMIM:612431 a owl:Class ; rdfs:label "deafness, autosomal dominant 27" ; IAO:0000142 PMID:18279434, PMID:29961578 ; - oboInOwl:hasDbXref UMLS:C3887929 ; oboInOwl:hasExactSynonym "DFNA27", "deafness, autosomal dominant 27" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C3887929 ; biolink:category biolink:Disease . OMIM:612432 a owl:Class ; @@ -304581,51 +316966,55 @@ OMIM:612432 a owl:Class ; IAO:0000142 PMID:11553796, PMID:17573773, PMID:8839352 ; - oboInOwl:hasDbXref UMLS:C1823859 ; oboInOwl:hasExactSynonym "WIPF3", "cr16", "was/wasl-interacting protein family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644150 ; - skos:exactMatch HGNC_symbol:WIPF3 ; + skos:exactMatch UMLS:C1823859, + HGNC:22004, + HGNC_symbol:WIPF3 ; biolink:category biolink:Gene . OMIM:612434 a owl:Class ; rdfs:label "CRISPLD2" ; IAO:0000142 PMID:17616516 ; - oboInOwl:hasDbXref UMLS:C1539139 ; oboInOwl:hasExactSynonym "CRISPLD2", "cysteine-rich secretory protein, lccl domain-containing, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83716 ; - skos:exactMatch HGNC_symbol:CRISPLD2 ; + skos:exactMatch UMLS:C1539139, + HGNC:25248, + HGNC_symbol:CRISPLD2 ; biolink:category biolink:Gene . OMIM:612435 a owl:Class ; rdfs:label "SLCO3A1" ; IAO:0000142 PMID:10873595, PMID:16971491 ; - oboInOwl:hasDbXref UMLS:C1420127 ; oboInOwl:hasExactSynonym "SLCO3A1", "organic anion transporter 3a1", "organic anion transporter d", "solute carrier organic anion transporter family, member 3a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28232 ; - skos:exactMatch HGNC_symbol:SLCO3A1 ; + skos:exactMatch UMLS:C1420127, + HGNC:10952, + HGNC_symbol:SLCO3A1 ; biolink:category biolink:Gene . OMIM:612436 a owl:Class ; rdfs:label "SLCO4A1" ; IAO:0000142 PMID:10873595 ; - oboInOwl:hasDbXref UMLS:C1420128 ; oboInOwl:hasExactSynonym "SLCO4A1", "organic anion transporter 4a1", "organic anion transporter e", "solute carrier organic anion transporter family, member 4a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28231 ; - skos:exactMatch HGNC_symbol:SLCO4A1 ; + skos:exactMatch UMLS:C1420128, + HGNC:10953, + HGNC_symbol:SLCO4A1 ; biolink:category biolink:Gene . OMIM:612439 a owl:Class ; @@ -304633,12 +317022,13 @@ OMIM:612439 a owl:Class ; IAO:0000142 PMID:10704287, PMID:11172815, PMID:17760859 ; - oboInOwl:hasDbXref UMLS:C1412513 ; oboInOwl:hasExactSynonym "ARFGAP3", "adp-ribosylation factor gtpase-activating protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26286 ; - skos:exactMatch HGNC_symbol:ARFGAP3 ; + skos:exactMatch UMLS:C1412513, + HGNC:661, + HGNC_symbol:ARFGAP3 ; biolink:category biolink:Gene . OMIM:612440 a owl:Class ; @@ -304650,7 +317040,6 @@ OMIM:612441 a owl:Class ; IAO:0000142 PMID:12941944, PMID:14617637, PMID:14623122 ; - oboInOwl:hasDbXref UMLS:C1428351 ; oboInOwl:hasExactSynonym "MGAT5B", "alpha-1,6-mannosyl-glycoprotein beta-1,6-n-acetylglucosaminyltransferase, isozyme B", "gnt-ix", @@ -304658,20 +317047,23 @@ OMIM:612441 a owl:Class ; "udp-n-acetylglucosamine:alpha-1,6-d-mannoside beta-1,6-n-acetylglucosaminyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146664 ; - skos:exactMatch HGNC_symbol:MGAT5B ; + skos:exactMatch UMLS:C1428351, + HGNC:24140, + HGNC_symbol:MGAT5B ; biolink:category biolink:Gene . OMIM:612442 a owl:Class ; rdfs:label "SEC22A" ; IAO:0000142 PMID:8621431 ; - oboInOwl:hasDbXref UMLS:C1822667 ; oboInOwl:hasExactSynonym "SEC22A", "sec22 homolog a, vesicle trafficking protein", "sec22l2", "secretion deficient 22, s. cerevisiae, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26984 ; - skos:exactMatch HGNC_symbol:SEC22A ; + skos:exactMatch UMLS:C1822667, + HGNC:20260, + HGNC_symbol:SEC22A ; biolink:category biolink:Gene . OMIM:612443 a owl:Class ; @@ -304681,8 +317073,8 @@ OMIM:612443 a owl:Class ; OMIM:612445 a owl:Class ; rdfs:label "scoliosis, arachnodactyly, and blindness" ; IAO:0000142 PMID:18990988 ; - oboInOwl:hasDbXref UMLS:C2676234 ; - oboInOwl:hasExactSynonym "scoliosis, arachnodactyly, and blindness" . + oboInOwl:hasExactSynonym "scoliosis, arachnodactyly, and blindness" ; + skos:exactMatch UMLS:C2676234 . OMIM:612446 a owl:Class ; rdfs:label "complement component 6 deficiency" ; @@ -304701,42 +317093,42 @@ OMIM:612446 a owl:Class ; PMID:8871666, PMID:9472666, PMID:9856498 ; - oboInOwl:hasDbXref UMLS:C2676232, - UMLS:C2676233 ; oboInOwl:hasExactSynonym "C6D", "c6 deficiency", "c6 deficiency, subtotal", "complement component 6 deficiency", "complement component 6 deficiency, subtotal" ; + skos:exactMatch UMLS:C2676232, + UMLS:C2676233 ; biolink:category biolink:Disease . OMIM:612447 a owl:Class ; rdfs:label "skeletal defects, genital hypoplasia, and impaired intellectual development" ; IAO:0000142 PMID:11891687, PMID:18611983 ; - oboInOwl:hasDbXref UMLS:C2676231 ; oboInOwl:hasExactSynonym "skeletal defects, genital hypoplasia, and impaired intellectual development", - "skeletal defects, genital hypoplasia, and mental retardation" . + "skeletal defects, genital hypoplasia, and mental retardation" ; + skos:exactMatch UMLS:C2676231 . OMIM:612449 a owl:Class ; rdfs:label "GEN1" ; IAO:0000142 PMID:15576351, PMID:19020614, PMID:21399624 ; - oboInOwl:hasDbXref UMLS:C2239486 ; oboInOwl:hasExactSynonym "GEN1", "gen1 holliday junction 5-prime flap endonuclease", "gen1, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348654 ; - skos:exactMatch HGNC_symbol:GEN1 ; + skos:exactMatch UMLS:C2239486, + HGNC:26881, + HGNC_symbol:GEN1 ; biolink:category biolink:Gene . OMIM:612450 a owl:Class ; rdfs:label "HBS1L" ; IAO:0000142 PMID:10470851, PMID:9872408 ; - oboInOwl:hasDbXref UMLS:C1415488 ; oboInOwl:hasExactSynonym "HBS1L", "erf3-similar protein", "hbs1, s. cerevisiae, homolog of", @@ -304744,7 +317136,9 @@ OMIM:612450 a owl:Class ; "kiaa1038" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10767 ; - skos:exactMatch HGNC_symbol:HBS1L ; + skos:exactMatch UMLS:C1415488, + HGNC:4834, + HGNC_symbol:HBS1L ; biolink:category biolink:Gene . OMIM:612451 a owl:Class ; @@ -304752,13 +317146,14 @@ OMIM:612451 a owl:Class ; IAO:0000142 PMID:18364390, PMID:21571784, PMID:22205304 ; - oboInOwl:hasDbXref UMLS:C1421785 ; oboInOwl:hasExactSynonym "RNF114", "ring finger protein 114", "zinc finger protein 313" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55905 ; - skos:exactMatch HGNC_symbol:RNF114 ; + skos:exactMatch UMLS:C1421785, + HGNC:13094, + HGNC_symbol:RNF114 ; biolink:category biolink:Gene . OMIM:612452 a owl:Class ; @@ -304771,14 +317166,15 @@ OMIM:612452 a owl:Class ; PMID:26306646 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:610443 ; - oboInOwl:hasDbXref UMLS:C1825683 ; oboInOwl:hasExactSynonym "KANSL1", "kat8 regulatory nsl complex, subunit 1", "kiaa1267", "msl1v1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284058 ; - skos:exactMatch HGNC_symbol:KANSL1 ; + skos:exactMatch UMLS:C1825683, + HGNC:24565, + HGNC_symbol:KANSL1 ; biolink:category biolink:Gene . OMIM:612453 a owl:Class ; @@ -304795,13 +317191,14 @@ OMIM:612453 a owl:Class ; PMID:28498977 ; RO:0002525 CHR:9606chr5q23.2 ; RO:0003303 OMIM:614399 ; - oboInOwl:hasDbXref UMLS:C1825964 ; oboInOwl:hasExactSynonym "MEGF10", "kiaa1780", "multiple epidermal growth factor-like domains 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84466 ; - skos:exactMatch HGNC_symbol:MEGF10 ; + skos:exactMatch UMLS:C1825964, + HGNC:29634, + HGNC_symbol:MEGF10 ; biolink:category biolink:Gene . OMIM:612454 a owl:Class ; @@ -304809,13 +317206,14 @@ OMIM:612454 a owl:Class ; IAO:0000142 PMID:11347906, PMID:17498693, PMID:22407321 ; - oboInOwl:hasDbXref UMLS:C1825965 ; oboInOwl:hasExactSynonym "MEGF11", "kiaa1781", "multiple epidermal growth factor-like domains 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84465 ; - skos:exactMatch HGNC_symbol:MEGF11 ; + skos:exactMatch UMLS:C1825965, + HGNC:29635, + HGNC_symbol:MEGF11 ; biolink:category biolink:Gene . OMIM:612455 a owl:Class ; @@ -304823,32 +317221,33 @@ OMIM:612455 a owl:Class ; IAO:0000142 PMID:16104846, PMID:16873376, PMID:17692818 ; - oboInOwl:hasDbXref UMLS:C1539777 ; oboInOwl:hasExactSynonym "SLC5A12", "sodium-coupled monocarboxylate transporter 2", "solute carrier family 5 (sodium/glucose cotransporter), member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:159963 ; - skos:exactMatch HGNC_symbol:SLC5A12 ; + skos:exactMatch UMLS:C1539777, + HGNC:28750, + HGNC_symbol:SLC5A12 ; biolink:category biolink:Gene . OMIM:612456 a owl:Class ; rdfs:label "APOLD1" ; IAO:0000142 PMID:15102925 ; - oboInOwl:hasDbXref UMLS:C1824092 ; oboInOwl:hasExactSynonym "APOLD1", "apolipoprotein 50 domain-containing 1", "vascular early response gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81575 ; - skos:exactMatch HGNC_symbol:APOLD1 ; + skos:exactMatch UMLS:C1824092, + HGNC:25268, + HGNC_symbol:APOLD1 ; biolink:category biolink:Gene . OMIM:612457 a owl:Class ; rdfs:label "ARID3B" ; IAO:0000142 PMID:10446990, PMID:10838570 ; - oboInOwl:hasDbXref UMLS:C1422585 ; oboInOwl:hasExactSynonym "ARID3B", "arid-containing protein 3b", "at-rich interaction domain-containing protein 3b", @@ -304857,7 +317256,9 @@ OMIM:612457 a owl:Class ; "dead ringer, drosophila, homolog-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10620 ; - skos:exactMatch HGNC_symbol:ARID3B ; + skos:exactMatch UMLS:C1422585, + HGNC:14350, + HGNC_symbol:ARID3B ; biolink:category biolink:Gene . OMIM:612458 a owl:Class ; @@ -304872,9 +317273,6 @@ OMIM:612458 a owl:Class ; PMID:31031012 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:618470 ; - oboInOwl:hasDbXref UMLS:C1538908, - UMLS:C5193113, - UMLS:C5193115 ; oboInOwl:hasExactSynonym "ACTL6B", "actin-like 6b", "actin-related protein, alpha", @@ -304882,7 +317280,11 @@ OMIM:612458 a owl:Class ; "baf53b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51412 ; - skos:exactMatch HGNC_symbol:ACTL6B ; + skos:exactMatch UMLS:C1538908, + UMLS:C5193113, + UMLS:C5193115, + HGNC:160, + HGNC_symbol:ACTL6B ; biolink:category biolink:Gene . OMIM:612461 a owl:Class ; @@ -304891,13 +317293,14 @@ OMIM:612461 a owl:Class ; PMID:17120280, PMID:20211139, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1412501 ; oboInOwl:hasExactSynonym "ARC", "activity-regulated cytoskeleton-associated protein", "kiaa0278" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23237 ; - skos:exactMatch HGNC_symbol:ARC ; + skos:exactMatch UMLS:C1412501, + HGNC:648, + HGNC_symbol:ARC ; biolink:category biolink:Gene . OMIM:612462 a owl:Class ; @@ -304907,10 +317310,10 @@ OMIM:612462 a owl:Class ; PMID:18372789, PMID:21488135, PMID:6265935 ; - oboInOwl:hasDbXref UMLS:C2932716 ; oboInOwl:hasExactSynonym "PHP1C", "php 1c", "pseudohypoparathyroidism, iia 1c" ; + skos:exactMatch UMLS:C2932716 ; biolink:category biolink:Disease . OMIM:612464 a owl:Class ; @@ -304918,14 +317321,15 @@ OMIM:612464 a owl:Class ; IAO:0000142 PMID:10718198, PMID:16269462, PMID:20603614 ; - oboInOwl:hasDbXref UMLS:C1428822 ; oboInOwl:hasExactSynonym "ARRDC3", "arrestin domain-containing protein 3", "kiaa1376", "thioredoxin-binding protein-2-like inducible membrane" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57561 ; - skos:exactMatch HGNC_symbol:ARRDC3 ; + skos:exactMatch UMLS:C1428822, + HGNC:29263, + HGNC_symbol:ARRDC3 ; biolink:category biolink:Gene . OMIM:612465 a owl:Class ; @@ -304941,16 +317345,17 @@ OMIM:612465 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr13q22.2 ; RO:0003303 OMIM:616087 ; - oboInOwl:hasDbXref UMLS:C1426056, - UMLS:C2986382, - UMLS:C5436964 ; oboInOwl:hasExactSynonym "TBC1D4", "akt substrate, 160-kd", "kiaa0603", "tbc1 domain family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9882 ; - skos:exactMatch HGNC_symbol:TBC1D4 ; + skos:exactMatch UMLS:C1426056, + UMLS:C2986382, + UMLS:C5436964, + HGNC:19165, + HGNC_symbol:TBC1D4 ; biolink:category biolink:Gene . OMIM:612466 a owl:Class ; @@ -304958,26 +317363,28 @@ OMIM:612466 a owl:Class ; IAO:0000142 PMID:16108726, PMID:16689661, PMID:17266443 ; - oboInOwl:hasDbXref UMLS:C1426964 ; oboInOwl:hasExactSynonym "GBP4", "guanylate-binding protein 3, mouse, homolog of", "guanylate-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115361 ; - skos:exactMatch HGNC_symbol:GBP4 ; + skos:exactMatch UMLS:C1426964, + HGNC:20480, + HGNC_symbol:GBP4 ; biolink:category biolink:Gene . OMIM:612467 a owl:Class ; rdfs:label "GBP6" ; IAO:0000142 PMID:16689661, PMID:17266443 ; - oboInOwl:hasDbXref UMLS:C1539555 ; oboInOwl:hasExactSynonym "GBP6", "guanylate-binding protein 4, mouse, homolog of", "guanylate-binding protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163351 ; - skos:exactMatch HGNC_symbol:GBP6 ; + skos:exactMatch UMLS:C1539555, + HGNC:25395, + HGNC_symbol:GBP6 ; biolink:category biolink:Gene . OMIM:612468 a owl:Class ; @@ -304985,13 +317392,14 @@ OMIM:612468 a owl:Class ; IAO:0000142 PMID:16689661, PMID:17266443, PMID:21551061 ; - oboInOwl:hasDbXref UMLS:C1825338 ; oboInOwl:hasExactSynonym "GBP7", "guanylate-binding protein 7", "guanylate-binding protein 7, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388646 ; - skos:exactMatch HGNC_symbol:GBP7 ; + skos:exactMatch UMLS:C1825338, + HGNC:29606, + HGNC_symbol:GBP7 ; biolink:category biolink:Gene . OMIM:612469 a owl:Class ; @@ -305002,12 +317410,12 @@ OMIM:612469 a owl:Class ; PMID:18753648, PMID:7526938 ; RO:0002525 CHR:9606chr11p13-p12 ; - oboInOwl:hasDbXref UMLS:C2675904 ; oboInOwl:hasExactSynonym "WAGRO", "chromosome 11p13-p12 deletion syndrome", "wagr syndrome with obesity", "wagro syndrome", "wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome" ; + skos:exactMatch UMLS:C2675904 ; biolink:category biolink:Disease . OMIM:612470 a owl:Class ; @@ -305015,14 +317423,15 @@ OMIM:612470 a owl:Class ; IAO:0000142 PMID:10878360, PMID:19008445, PMID:22992524 ; - oboInOwl:hasDbXref UMLS:C2240205 ; oboInOwl:hasExactSynonym "BATF3", "basic leucine zipper transcription factor, atf-like 3", "p21(snft)", "small nuclear factor isolated from t cells, 21-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55509 ; - skos:exactMatch HGNC_symbol:BATF3 ; + skos:exactMatch UMLS:C2240205, + HGNC:28915, + HGNC_symbol:BATF3 ; biolink:category biolink:Gene . OMIM:612471 a owl:Class ; @@ -305032,7 +317441,6 @@ OMIM:612471 a owl:Class ; PMID:7592550 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:210100 ; - oboInOwl:hasDbXref UMLS:C1422631 ; oboInOwl:hasExactSynonym "AGXT2", "agt2", "alanine-glyoxylate aminotransferase 2", @@ -305040,7 +317448,9 @@ OMIM:612471 a owl:Class ; "beta-alanine pyruvate aminotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64902 ; - skos:exactMatch HGNC_symbol:AGXT2 ; + skos:exactMatch UMLS:C1422631, + HGNC:14412, + HGNC_symbol:AGXT2 ; biolink:category biolink:Gene . OMIM:612472 a owl:Class ; @@ -305060,7 +317470,6 @@ OMIM:612472 a owl:Class ; PMID:32778823, PMID:8021282, PMID:9409616 ; - oboInOwl:hasDbXref UMLS:C1424999 ; oboInOwl:hasExactSynonym "METTL3", "ime4, s. cerevisiae, homolog of", "methyltransferase 3, n6-adenosine-methyltransferase complex catalytic subunit", @@ -305068,7 +317477,9 @@ OMIM:612472 a owl:Class ; "mt-a70" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56339 ; - skos:exactMatch HGNC_symbol:METTL3 ; + skos:exactMatch UMLS:C1424999, + HGNC:17563, + HGNC_symbol:METTL3 ; biolink:category biolink:Gene . OMIM:612473 a owl:Class ; @@ -305076,13 +317487,14 @@ OMIM:612473 a owl:Class ; IAO:0000142 PMID:15302887, PMID:16865237, PMID:17178731 ; - oboInOwl:hasDbXref UMLS:C2675903 ; oboInOwl:hasExactSynonym "PEBP4", "cousin of rkip 1", "phosphatidylethanolamine-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157310 ; - skos:exactMatch HGNC_symbol:PEBP4 ; + skos:exactMatch UMLS:C2675903, + HGNC:28319, + HGNC_symbol:PEBP4 ; biolink:category biolink:Gene . OMIM:612474 a owl:Class ; @@ -305102,8 +317514,8 @@ OMIM:612474 a owl:Class ; PMID:22901949, PMID:26066539 ; RO:0002525 CHR:9606chr1q21.1 ; - oboInOwl:hasDbXref UMLS:C2675897 ; oboInOwl:hasExactSynonym "chromosome 1q21.1 deletion syndrome, 1.35-mb" ; + skos:exactMatch UMLS:C2675897 ; biolink:category biolink:Disease . OMIM:612475 a owl:Class ; @@ -305117,8 +317529,8 @@ OMIM:612475 a owl:Class ; PMID:23018752, PMID:26066539 ; RO:0002525 CHR:9606chr1q21.1 ; - oboInOwl:hasDbXref UMLS:C2675891 ; oboInOwl:hasExactSynonym "chromosome 1q21.1 duplication syndrome" ; + skos:exactMatch UMLS:C2675891 ; biolink:category biolink:Disease . OMIM:612476 a owl:Class ; @@ -305132,7 +317544,6 @@ OMIM:612476 a owl:Class ; PMID:8570175, PMID:8630063, PMID:9745044 ; - oboInOwl:hasDbXref UMLS:C1412740 ; oboInOwl:hasExactSynonym "BATF", "b-cell activating transcription factor", "basic leucine zipper transcription factor, atf-like", @@ -305140,21 +317551,24 @@ OMIM:612476 a owl:Class ; "sfa2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10538 ; - skos:exactMatch HGNC_symbol:BATF ; + skos:exactMatch UMLS:C1412740, + HGNC:958, + HGNC_symbol:BATF ; biolink:category biolink:Gene . OMIM:612477 a owl:Class ; rdfs:label "IQCG" ; IAO:0000142 PMID:11230166, PMID:18084320 ; - oboInOwl:hasDbXref UMLS:C1537417, - UMLS:C4225435 ; oboInOwl:hasExactSynonym "IQCG", "iq motif-containing protein g", "iqcg/nup98 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84223 ; - skos:exactMatch HGNC_symbol:IQCG ; + skos:exactMatch UMLS:C1537417, + UMLS:C4225435, + HGNC:25251, + HGNC_symbol:IQCG ; biolink:category biolink:Gene . OMIM:612478 a owl:Class ; @@ -305163,7 +317577,6 @@ OMIM:612478 a owl:Class ; PMID:12044471, PMID:12780348, PMID:14697346 ; - oboInOwl:hasDbXref UMLS:C1423773 ; oboInOwl:hasExactSynonym "NECAB3", "amyloid beta precursor protein-binding, family a, member 2", "efcbp3", @@ -305174,7 +317587,9 @@ OMIM:612478 a owl:Class ; "x11l-binding protein 51" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63941 ; - skos:exactMatch HGNC_symbol:NECAB3 ; + skos:exactMatch UMLS:C1423773, + HGNC:15851, + HGNC_symbol:NECAB3 ; biolink:category biolink:Gene . OMIM:612479 a owl:Class ; @@ -305186,25 +317601,27 @@ OMIM:612480 a owl:Class ; rdfs:label "TIPARP" ; IAO:0000142 PMID:11358835, PMID:12851707 ; - oboInOwl:hasDbXref UMLS:C1428200 ; oboInOwl:hasExactSynonym "TIPARP", "tcdd-inducible poly(adp-ribose) polymerase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25976 ; - skos:exactMatch HGNC_symbol:TIPARP ; + skos:exactMatch UMLS:C1428200, + HGNC:23696, + HGNC_symbol:TIPARP ; biolink:category biolink:Gene . OMIM:612481 a owl:Class ; rdfs:label "PARP12" ; IAO:0000142 PMID:12851707 ; - oboInOwl:hasDbXref UMLS:C1826543 ; oboInOwl:hasExactSynonym "PARP12", "flj22693", "poly(adp-ribose) polymerase family, member 12", "zc3hdc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64761 ; - skos:exactMatch HGNC_symbol:PARP12 ; + skos:exactMatch UMLS:C1826543, + HGNC:21919, + HGNC_symbol:PARP12 ; biolink:category biolink:Gene . OMIM:612482 a owl:Class ; @@ -305220,26 +317637,28 @@ OMIM:612482 a owl:Class ; PMID:27081527 ; RO:0002525 CHR:9606chr17q22 ; RO:0003303 OMIM:617108 ; - oboInOwl:hasDbXref UMLS:C1425565 ; oboInOwl:hasExactSynonym "RNF43", "ring finger protein 43", "rnf124" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54894 ; - skos:exactMatch HGNC_symbol:RNF43 ; + skos:exactMatch UMLS:C1425565, + HGNC:18505, + HGNC_symbol:RNF43 ; biolink:category biolink:Gene . OMIM:612483 a owl:Class ; rdfs:label "FAT3" ; IAO:0000142 PMID:11811999, PMID:16865240 ; - oboInOwl:hasDbXref UMLS:C1427923 ; oboInOwl:hasExactSynonym "FAT3", "fat atypical cadherin 3", "fat tumor suppressor, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120114 ; - skos:exactMatch HGNC_symbol:FAT3 ; + skos:exactMatch UMLS:C1427923, + HGNC:23112, + HGNC_symbol:FAT3 ; biolink:category biolink:Gene . OMIM:612484 a owl:Class ; @@ -305247,30 +317666,31 @@ OMIM:612484 a owl:Class ; IAO:0000142 PMID:11861908, PMID:12244054, PMID:12527768 ; - oboInOwl:hasDbXref UMLS:C1426140 ; oboInOwl:hasExactSynonym "RNASE7", "ribonuclease, rnase a family, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84659 ; - skos:exactMatch HGNC_symbol:RNASE7 ; + skos:exactMatch UMLS:C1426140, + HGNC:19278, + HGNC_symbol:RNASE7 ; biolink:category biolink:Gene . OMIM:612485 a owl:Class ; rdfs:label "RNASE8" ; IAO:0000142 PMID:11861908 ; - oboInOwl:hasDbXref UMLS:C1426139 ; oboInOwl:hasExactSynonym "RNASE8", "ribonuclease, rnase a family, 8", "rnase8, placental" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122665 ; - skos:exactMatch HGNC_symbol:RNASE8 ; + skos:exactMatch UMLS:C1426139, + HGNC:19277, + HGNC_symbol:RNASE8 ; biolink:category biolink:Gene . OMIM:612486 a owl:Class ; rdfs:label "DCHS2" ; IAO:0000142 PMID:15003449 ; - oboInOwl:hasDbXref UMLS:C1539224 ; oboInOwl:hasExactSynonym "DCHS2", "cadherin j", "dachsous cadherin-related 2", @@ -305278,7 +317698,9 @@ OMIM:612486 a owl:Class ; "protocadherin j" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54798 ; - skos:exactMatch HGNC_symbol:DCHS2 ; + skos:exactMatch UMLS:C1539224, + HGNC:23111, + HGNC_symbol:DCHS2 ; biolink:category biolink:Gene . OMIM:612487 a owl:Class ; @@ -305288,61 +317710,66 @@ OMIM:612487 a owl:Class ; PMID:21455180, PMID:21455181, PMID:26008899 ; - oboInOwl:hasDbXref UMLS:C1423923 ; oboInOwl:hasExactSynonym "RNF31", "hoil1-interacting protein", "ring finger protein 31", "zinc, in-between-ring finger, and ubiquitin-associated domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55072 ; - skos:exactMatch HGNC_symbol:RNF31 ; + skos:exactMatch UMLS:C1423923, + HGNC:16031, + HGNC_symbol:RNF31 ; biolink:category biolink:Gene . OMIM:612488 a owl:Class ; rdfs:label "RNF38" ; IAO:0000142 PMID:12074600 ; - oboInOwl:hasDbXref UMLS:C1425266 ; oboInOwl:hasExactSynonym "RNF38", "ring finger protein 38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152006 ; - skos:exactMatch HGNC_symbol:RNF38 ; + skos:exactMatch UMLS:C1425266, + HGNC:18052, + HGNC_symbol:RNF38 ; biolink:category biolink:Gene . OMIM:612489 a owl:Class ; rdfs:label "RNF24" ; IAO:0000142 PMID:17850865 ; - oboInOwl:hasDbXref UMLS:C1422191 ; oboInOwl:hasExactSynonym "RNF24", "goliath-like protein (c3ch4 type)", "ring finger protein 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11237 ; - skos:exactMatch HGNC_symbol:RNF24 ; + skos:exactMatch UMLS:C1422191, + HGNC:13779, + HGNC_symbol:RNF24 ; biolink:category biolink:Gene . OMIM:612490 a owl:Class ; rdfs:label "RNF181" ; IAO:0000142 PMID:18331836 ; - oboInOwl:hasDbXref UMLS:C2239895 ; oboInOwl:hasExactSynonym "RNF181", "ring finger protein 181" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51255 ; - skos:exactMatch HGNC_symbol:RNF181 ; + skos:exactMatch UMLS:C2239895, + HGNC:28037, + HGNC_symbol:RNF181 ; biolink:category biolink:Gene . OMIM:612491 a owl:Class ; rdfs:label "APIP" ; IAO:0000142 PMID:15262985 ; - oboInOwl:hasDbXref UMLS:C1824090 ; oboInOwl:hasExactSynonym "APIP", "apaf1-interacting protein", "cgi29", "mmrp19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51074 ; - skos:exactMatch HGNC_symbol:APIP ; + skos:exactMatch UMLS:C1824090, + HGNC:17581, + HGNC_symbol:APIP ; biolink:category biolink:Gene . OMIM:612492 a owl:Class ; @@ -305350,76 +317777,82 @@ OMIM:612492 a owl:Class ; IAO:0000142 PMID:14715245, PMID:18287522, PMID:24896179 ; - oboInOwl:hasDbXref UMLS:C1426653 ; oboInOwl:hasExactSynonym "USP30", "ubiquitin-specific protease 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84749 ; - skos:exactMatch HGNC_symbol:USP30 ; + skos:exactMatch UMLS:C1426653, + HGNC:20065, + HGNC_symbol:USP30 ; biolink:category biolink:Gene . OMIM:612493 a owl:Class ; rdfs:label "CNPY1" ; IAO:0000142 PMID:16488878 ; - oboInOwl:hasDbXref UMLS:C1824766 ; oboInOwl:hasExactSynonym "CNPY1", "canopy 1, zebrafish, homolog of", "canopy fgf signaling regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285888 ; - skos:exactMatch HGNC_symbol:CNPY1 ; + skos:exactMatch UMLS:C1824766, + HGNC:27786, + HGNC_symbol:CNPY1 ; biolink:category biolink:Gene . OMIM:612494 a owl:Class ; rdfs:label "ARHGEF10L" ; IAO:0000142 PMID:16112081 ; - oboInOwl:hasDbXref UMLS:C1824200 ; oboInOwl:hasExactSynonym "ARHGEF10L", "grinchgef", "kiaa1626", "rho guanine nucleotide exchange factor 10-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55160 ; - skos:exactMatch HGNC_symbol:ARHGEF10L ; + skos:exactMatch UMLS:C1824200, + HGNC:25540, + HGNC_symbol:ARHGEF10L ; biolink:category biolink:Gene . OMIM:612495 a owl:Class ; rdfs:label "UBE3D" ; IAO:0000142 PMID:15749827 ; - oboInOwl:hasDbXref UMLS:C1427527 ; oboInOwl:hasExactSynonym "UBE3D", "h10bh", "ubiquitin-conjugating enzyme e2c-binding protein", "ubiquitin-protein ligase e3d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90025 ; - skos:exactMatch HGNC_symbol:UBE3D ; + skos:exactMatch UMLS:C1427527, + HGNC:21381, + HGNC_symbol:UBE3D ; biolink:category biolink:Gene . OMIM:612496 a owl:Class ; rdfs:label "ARHGEF19" ; IAO:0000142 PMID:15485661 ; - oboInOwl:hasDbXref UMLS:C1428610 ; oboInOwl:hasExactSynonym "ARHGEF19", "rho guanine nucleotide exchange factor 19", "weakly similar to rhogef5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128272 ; - skos:exactMatch HGNC_symbol:ARHGEF19 ; + skos:exactMatch UMLS:C1428610, + HGNC:26604, + HGNC_symbol:ARHGEF19 ; biolink:category biolink:Gene . OMIM:612497 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:11124703, PMID:16861225 ; - oboInOwl:hasDbXref UMLS:C2675889 ; oboInOwl:hasExactSynonym "human sequence similar to yeast 29", "nsa2, s. cerevisiae, homolog of", "tgfb-inducible nuclear protein 1", "transforming growth factor-beta-inducible nuclear protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10412 ; - skos:exactMatch HGNC_symbol:NSA2 ; + skos:exactMatch UMLS:C2675889, + HGNC:30728, + HGNC_symbol:NSA2 ; biolink:category biolink:Gene . OMIM:612498 a owl:Class ; @@ -305431,20 +317864,20 @@ OMIM:612498 a owl:Class ; PMID:32646962 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:617030 ; - oboInOwl:hasDbXref UMLS:C1426678, - UMLS:C4310754 ; oboInOwl:hasExactSynonym "ADSS1", "adenylosuccinate synthase 1", "adenylosuccinate synthase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122622 ; - skos:exactMatch HGNC_symbol:ADSS1 ; + skos:exactMatch UMLS:C1426678, + UMLS:C4310754, + HGNC:20093, + HGNC_symbol:ADSS1 ; biolink:category biolink:Gene . OMIM:612499 a owl:Class ; rdfs:label "DIMT1" ; IAO:0000142 PMID:11124703 ; - oboInOwl:hasDbXref UMLS:C1824936 ; oboInOwl:hasExactSynonym "DIMT1", "dim1, s. cerevisiae, homolog of", "dimethyladenosine transferase 1-like", @@ -305452,13 +317885,14 @@ OMIM:612499 a owl:Class ; "human sequence similar to yeast 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27292 ; - skos:exactMatch HGNC_symbol:DIMT1 ; + skos:exactMatch UMLS:C1824936, + HGNC:30217, + HGNC_symbol:DIMT1 ; biolink:category biolink:Gene . OMIM:612500 a owl:Class ; rdfs:label "DDX52" ; IAO:0000142 PMID:11124703 ; - oboInOwl:hasDbXref UMLS:C1426628 ; oboInOwl:hasExactSynonym "DDX52", "dead-box polypeptide 52", "dexd-box helicase 52", @@ -305466,7 +317900,9 @@ OMIM:612500 a owl:Class ; "rok1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11056 ; - skos:exactMatch HGNC_symbol:DDX52 ; + skos:exactMatch UMLS:C1426628, + HGNC:20038, + HGNC_symbol:DDX52 ; biolink:category biolink:Gene . OMIM:612501 a owl:Class ; @@ -305475,13 +317911,14 @@ OMIM:612501 a owl:Class ; PMID:12763049, PMID:16300736, PMID:17471241 ; - oboInOwl:hasDbXref UMLS:C1823572 ; oboInOwl:hasExactSynonym "UBE2Q2", "loc92912", "ubiquitin-conjugating enzyme e2q 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92912 ; - skos:exactMatch HGNC_symbol:UBE2Q2 ; + skos:exactMatch UMLS:C1823572, + HGNC:19248, + HGNC_symbol:UBE2Q2 ; biolink:category biolink:Gene . OMIM:612502 a owl:Class ; @@ -305492,13 +317929,14 @@ OMIM:612502 a owl:Class ; PMID:8933348 ; RO:0002525 CHR:9606chr2p25.3 ; RO:0003303 OMIM:265050 ; - oboInOwl:hasDbXref UMLS:C1424826 ; oboInOwl:hasExactSynonym "COLEC11", "collectin 11", "collectin, kidney, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:78989 ; - skos:exactMatch HGNC_symbol:COLEC11 ; + skos:exactMatch UMLS:C1424826, + HGNC:17213, + HGNC_symbol:COLEC11 ; biolink:category biolink:Gene . OMIM:612503 a owl:Class ; @@ -305512,25 +317950,27 @@ OMIM:612503 a owl:Class ; PMID:8894702 ; RO:0002525 CHR:9606chr17q24.3 ; RO:0003303 OMIM:135400 ; - oboInOwl:hasDbXref UMLS:C1412064 ; oboInOwl:hasExactSynonym "ABCA5", "atp-binding cassette, subfamily a, member 5", "kiaa1888" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23461 ; - skos:exactMatch HGNC_symbol:ABCA5 ; + skos:exactMatch UMLS:C1412064, + HGNC:35, + HGNC_symbol:ABCA5 ; biolink:category biolink:Gene . OMIM:612504 a owl:Class ; rdfs:label "ABCA6" ; IAO:0000142 PMID:11478798, PMID:8894702 ; - oboInOwl:hasDbXref UMLS:C1412065 ; oboInOwl:hasExactSynonym "ABCA6", "atp-binding cassette, subfamily a, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23460 ; - skos:exactMatch HGNC_symbol:ABCA6 ; + skos:exactMatch UMLS:C1412065, + HGNC:36, + HGNC_symbol:ABCA6 ; biolink:category biolink:Gene . OMIM:612505 a owl:Class ; @@ -305538,47 +317978,51 @@ OMIM:612505 a owl:Class ; IAO:0000142 PMID:10048485, PMID:11478798, PMID:12379217 ; - oboInOwl:hasDbXref UMLS:C1412067 ; oboInOwl:hasExactSynonym "ABCA8", "atp-binding cassette, subfamily a, member 8", "kiaa0822" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10351 ; - skos:exactMatch HGNC_symbol:ABCA8 ; + skos:exactMatch UMLS:C1412067, + HGNC:38, + HGNC_symbol:ABCA8 ; biolink:category biolink:Gene . OMIM:612506 a owl:Class ; rdfs:label "UBE2R2" ; IAO:0000142 PMID:12037680 ; - oboInOwl:hasDbXref UMLS:C1426522 ; oboInOwl:hasExactSynonym "UBE2R2", "ubiquitin-conjugating enzyme e2r 2", "ubiquitin-conjugating enzyme ubc3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54926 ; - skos:exactMatch HGNC_symbol:UBE2R2 ; + skos:exactMatch UMLS:C1426522, + HGNC:19907, + HGNC_symbol:UBE2R2 ; biolink:category biolink:Gene . OMIM:612507 a owl:Class ; rdfs:label "ABCA9" ; IAO:0000142 PMID:12150964 ; - oboInOwl:hasDbXref UMLS:C1412068 ; oboInOwl:hasExactSynonym "ABCA9", "atp-binding cassette, subfamily a, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10350 ; - skos:exactMatch HGNC_symbol:ABCA9 ; + skos:exactMatch UMLS:C1412068, + HGNC:39, + HGNC_symbol:ABCA9 ; biolink:category biolink:Gene . OMIM:612508 a owl:Class ; rdfs:label "ABCA10" ; IAO:0000142 PMID:12821155 ; - oboInOwl:hasDbXref UMLS:C1412059 ; oboInOwl:hasExactSynonym "ABCA10", "atp-binding cassette, subfamily a, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10349 ; - skos:exactMatch HGNC_symbol:ABCA10 ; + skos:exactMatch UMLS:C1412059, + HGNC:30, + HGNC_symbol:ABCA10 ; biolink:category biolink:Gene . OMIM:612509 a owl:Class ; @@ -305586,13 +318030,14 @@ OMIM:612509 a owl:Class ; IAO:0000142 PMID:11146224, PMID:15474296, PMID:8894702 ; - oboInOwl:hasDbXref UMLS:C1412076 ; oboInOwl:hasExactSynonym "ABCC10", "atp-binding cassette, subfamily c, member 10", "multidrug resistance-associated protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89845 ; - skos:exactMatch HGNC_symbol:ABCC10 ; + skos:exactMatch UMLS:C1412076, + HGNC:52, + HGNC_symbol:ABCC10 ; biolink:category biolink:Gene . OMIM:612510 a owl:Class ; @@ -305600,39 +318045,42 @@ OMIM:612510 a owl:Class ; IAO:0000142 PMID:11124703, PMID:16203778, PMID:8894702 ; - oboInOwl:hasDbXref UMLS:C1412094 ; oboInOwl:hasExactSynonym "ABCF2", "atp-binding cassette, subfamily f, member 2", "human sequence similar to yeast 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10061 ; - skos:exactMatch HGNC_symbol:ABCF2 ; + skos:exactMatch UMLS:C1412094, + HGNC:71, + HGNC_symbol:ABCF2 ; biolink:category biolink:Gene . OMIM:612511 a owl:Class ; rdfs:label "MIRN101-1" ; IAO:0000142 PMID:19008416 ; - oboInOwl:hasDbXref UMLS:C1537757 ; oboInOwl:hasExactSynonym "MIRN101-1", "micro RNA 101-1", "mir101-1", "mirna101-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406893 ; - skos:exactMatch HGNC_symbol:MIR101-1 ; + skos:exactMatch UMLS:C1537757, + HGNC:31488, + HGNC_symbol:MIR101-1 ; biolink:category biolink:Gene . OMIM:612512 a owl:Class ; rdfs:label "MIRN101-2" ; IAO:0000142 PMID:19008416 ; - oboInOwl:hasDbXref UMLS:C1537758 ; oboInOwl:hasExactSynonym "MIRN101-2", "micro RNA 101-2", "mir101-2", "mirna101-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406894 ; - skos:exactMatch HGNC_symbol:MIR101-2 ; + skos:exactMatch UMLS:C1537758, + HGNC:31489, + HGNC_symbol:MIR101-2 ; biolink:category biolink:Gene . OMIM:612513 a owl:Class ; @@ -305649,8 +318097,8 @@ OMIM:612513 a owl:Class ; PMID:25979662, PMID:26019277 ; RO:0002525 CHR:9606chr2p16.1-p15 ; - oboInOwl:hasDbXref UMLS:C2675875 ; oboInOwl:hasExactSynonym "chromosome 2p16.1-p15 deletion syndrome" ; + skos:exactMatch UMLS:C2675875 ; biolink:category biolink:Disease . OMIM:612515 a owl:Class ; @@ -305664,13 +318112,14 @@ OMIM:612515 a owl:Class ; PMID:6876115 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:241080 ; - oboInOwl:hasDbXref UMLS:C1824104 ; oboInOwl:hasExactSynonym "DCAF17", "chromosome 2 open reading frame 37", "ddb1- and cul4-associated factor 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80067 ; - skos:exactMatch HGNC_symbol:DCAF17 ; + skos:exactMatch UMLS:C1824104, + HGNC:25784, + HGNC_symbol:DCAF17 ; biolink:category biolink:Gene . OMIM:612516 a owl:Class ; @@ -305680,13 +318129,14 @@ OMIM:612516 a owl:Class ; PMID:12761289, PMID:14961764, PMID:15271982 ; - oboInOwl:hasDbXref UMLS:C1423851 ; oboInOwl:hasExactSynonym "UACA", "nucling", "uveal autoantigen with coiled-coil domains and ankyrin repeats" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55075 ; - skos:exactMatch HGNC_symbol:UACA ; + skos:exactMatch UMLS:C1423851, + HGNC:15947, + HGNC_symbol:UACA ; biolink:category biolink:Gene . OMIM:612517 a owl:Class ; @@ -305694,25 +318144,27 @@ OMIM:612517 a owl:Class ; IAO:0000142 PMID:19052621 ; RO:0002525 CHR:9606chr14q21.3 ; RO:0003303 OMIM:612518 ; - oboInOwl:hasDbXref UMLS:C1426761 ; oboInOwl:hasExactSynonym "DNAAF2", "chromosome 14 open reading frame 104", "dynein, axonemal, assembly factor 2", "kintoun, medaka, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55172 ; - skos:exactMatch HGNC_symbol:DNAAF2 ; + skos:exactMatch UMLS:C1426761, + HGNC:20188, + HGNC_symbol:DNAAF2 ; biolink:category biolink:Gene . OMIM:612519 a owl:Class ; rdfs:label "SLC35D3" ; IAO:0000142 PMID:17062724 ; - oboInOwl:hasDbXref UMLS:C1423626 ; oboInOwl:hasExactSynonym "SLC35D3", "solute carrier family 35, member d3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340146 ; - skos:exactMatch HGNC_symbol:SLC35D3 ; + skos:exactMatch UMLS:C1423626, + HGNC:15621, + HGNC_symbol:SLC35D3 ; biolink:category biolink:Gene . OMIM:612520 a owl:Class ; @@ -305724,20 +318176,20 @@ OMIM:612520 a owl:Class ; PMID:19073967, PMID:19430480, PMID:9313763 ; - oboInOwl:hasDbXref UMLS:C2675866 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 20", "T1D20", "diabetes mellitus, insulin-dependent, 20" ; + skos:exactMatch UMLS:C2675866 ; biolink:category biolink:Disease . OMIM:612521 a owl:Class ; rdfs:label " iia 1 diabetes mellitus 21" ; IAO:0000142 PMID:19073967 ; RO:0002525 CHR:9606chr6q25 ; - oboInOwl:hasDbXref UMLS:C2675865 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 21", "T1D21", "diabetes mellitus, insulin-dependent, 21" ; + skos:exactMatch UMLS:C2675865 ; biolink:category biolink:Disease . OMIM:612522 a owl:Class ; @@ -305745,34 +318197,36 @@ OMIM:612522 a owl:Class ; IAO:0000142 PMID:19073967, PMID:8751444, PMID:8756719 ; - oboInOwl:hasDbXref UMLS:C2675864 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 22", "T1D22", "diabetes mellitus, insulin-dependent, 22" ; + skos:exactMatch UMLS:C2675864 ; biolink:category biolink:Disease . OMIM:612523 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:15897968 ; - oboInOwl:hasDbXref UMLS:C1825615 ; oboInOwl:hasExactSynonym "iq motif-containing protein h: iqch", "nyd-sp5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64799 ; - skos:exactMatch HGNC_symbol:IQCH ; + skos:exactMatch UMLS:C1825615, + HGNC:25721, + HGNC_symbol:IQCH ; biolink:category biolink:Gene . OMIM:612524 a owl:Class ; rdfs:label "RPP21" ; IAO:0000142 PMID:11497433, PMID:17601797 ; - oboInOwl:hasDbXref UMLS:C1427477 ; oboInOwl:hasExactSynonym "RPP21", "ribonuclease p/mrp subunit p21", "ribonuclease p/mrp, 21-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79897 ; - skos:exactMatch HGNC_symbol:RPP21 ; + skos:exactMatch UMLS:C1427477, + HGNC:21300, + HGNC_symbol:RPP21 ; biolink:category biolink:Gene . OMIM:612526 a owl:Class ; @@ -305780,12 +318234,12 @@ OMIM:612526 a owl:Class ; IAO:0000142 PMID:11739396, PMID:15028826, PMID:18211975 ; - oboInOwl:hasDbXref UMLS:C2675861 ; oboInOwl:hasExactSynonym "CGL3", "berardinelli-seip congenital lipodystrophy, iia 3", "lipodystrophy, berardinelli-seip congenital, iia 3", "lipodystrophy, congenital generalized, iia 3" ; rdfs:subClassOf OMIMPS:608594 ; + skos:exactMatch UMLS:C2675861 ; biolink:category biolink:Disease . OMIM:612530 a owl:Class ; @@ -305800,101 +318254,109 @@ OMIM:612530 a owl:Class ; PMID:8599357, PMID:9728329 ; RO:0002525 CHR:9606chr1q41-q42 ; - oboInOwl:hasDbXref UMLS:C2675857 ; oboInOwl:hasExactSynonym "chromosome 1q41-q42 deletion syndrome", "holoprosencephaly 10" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C2675857 ; biolink:category biolink:Disease . OMIM:612531 a owl:Class ; rdfs:label "THAP2" ; IAO:0000142 PMID:12575992, PMID:18073205 ; - oboInOwl:hasDbXref UMLS:C1427161 ; oboInOwl:hasExactSynonym "THAP2", "thap domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83591 ; - skos:exactMatch HGNC_symbol:THAP2 ; + skos:exactMatch UMLS:C1427161, + HGNC:20854, + HGNC_symbol:THAP2 ; biolink:category biolink:Gene . OMIM:612532 a owl:Class ; rdfs:label "THAP3" ; IAO:0000142 PMID:12575992, PMID:18073205 ; - oboInOwl:hasDbXref UMLS:C1427162 ; oboInOwl:hasExactSynonym "THAP3", "thap domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90326 ; - skos:exactMatch HGNC_symbol:THAP3 ; + skos:exactMatch UMLS:C1427162, + HGNC:20855, + HGNC_symbol:THAP3 ; biolink:category biolink:Gene . OMIM:612533 a owl:Class ; rdfs:label "THAP4" ; IAO:0000142 PMID:12575992 ; - oboInOwl:hasDbXref UMLS:C1427973 ; oboInOwl:hasExactSynonym "THAP4", "thap domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51078 ; - skos:exactMatch HGNC_symbol:THAP4 ; + skos:exactMatch UMLS:C1427973, + HGNC:23187, + HGNC_symbol:THAP4 ; biolink:category biolink:Gene . OMIM:612534 a owl:Class ; rdfs:label "THAP5" ; IAO:0000142 PMID:12575992 ; - oboInOwl:hasDbXref UMLS:C1427974 ; oboInOwl:hasExactSynonym "THAP5", "thap domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:168451 ; - skos:exactMatch HGNC_symbol:THAP5 ; + skos:exactMatch UMLS:C1427974, + HGNC:23188, + HGNC_symbol:THAP5 ; biolink:category biolink:Gene . OMIM:612535 a owl:Class ; rdfs:label "THAP6" ; IAO:0000142 PMID:12575992 ; - oboInOwl:hasDbXref UMLS:C1427975 ; oboInOwl:hasExactSynonym "THAP6", "thap domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152815 ; - skos:exactMatch HGNC_symbol:THAP6 ; + skos:exactMatch UMLS:C1427975, + HGNC:23189, + HGNC_symbol:THAP6 ; biolink:category biolink:Gene . OMIM:612536 a owl:Class ; rdfs:label "THAP8" ; IAO:0000142 PMID:12575992 ; - oboInOwl:hasDbXref UMLS:C1427977 ; oboInOwl:hasExactSynonym "THAP8", "thap domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199745 ; - skos:exactMatch HGNC_symbol:THAP8 ; + skos:exactMatch UMLS:C1427977, + HGNC:23191, + HGNC_symbol:THAP8 ; biolink:category biolink:Gene . OMIM:612537 a owl:Class ; rdfs:label "THAP9" ; IAO:0000142 PMID:12575992, PMID:23349291 ; - oboInOwl:hasDbXref UMLS:C1427978 ; oboInOwl:hasExactSynonym "THAP9", "thap domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79725 ; - skos:exactMatch HGNC_symbol:THAP9 ; + skos:exactMatch UMLS:C1427978, + HGNC:23192, + HGNC_symbol:THAP9 ; biolink:category biolink:Gene . OMIM:612538 a owl:Class ; rdfs:label "THAP10" ; IAO:0000142 PMID:12575992 ; - oboInOwl:hasDbXref UMLS:C1427979 ; oboInOwl:hasExactSynonym "THAP10", "thap domain-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56906 ; - skos:exactMatch HGNC_symbol:THAP10 ; + skos:exactMatch UMLS:C1427979, + HGNC:23193, + HGNC_symbol:THAP10 ; biolink:category biolink:Gene . OMIM:612543 a owl:Class ; @@ -305902,13 +318364,14 @@ OMIM:612543 a owl:Class ; IAO:0000142 PMID:10819331, PMID:14715245, PMID:19039105 ; - oboInOwl:hasDbXref UMLS:C1426650 ; oboInOwl:hasExactSynonym "USP36", "kiaa1453", "ubiquitin-specific protease 36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57602 ; - skos:exactMatch HGNC_symbol:USP36 ; + skos:exactMatch UMLS:C1426650, + HGNC:20062, + HGNC_symbol:USP36 ; biolink:category biolink:Gene . OMIM:612544 a owl:Class ; @@ -305916,84 +318379,91 @@ OMIM:612544 a owl:Class ; IAO:0000142 PMID:11347906, PMID:16005990, PMID:17194709 ; - oboInOwl:hasDbXref UMLS:C1426081 ; oboInOwl:hasExactSynonym "ABLIM2", "actin-binding 51m protein family, member 2", "kiaa1808" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84448 ; - skos:exactMatch HGNC_symbol:ABLIM2 ; + skos:exactMatch UMLS:C1426081, + HGNC:19195, + HGNC_symbol:ABLIM2 ; biolink:category biolink:Gene . OMIM:612545 a owl:Class ; rdfs:label "WBSCR26" ; IAO:0000142 PMID:18398435 ; - oboInOwl:hasDbXref UMLS:C1425424 ; oboInOwl:hasExactSynonym "WBSCR26", "williams-beuren syndrome chromosome region 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171022 ; - skos:exactMatch HGNC_symbol:ABHD11-AS1 ; + skos:exactMatch UMLS:C1425424, + HGNC:18289, + HGNC_symbol:ABHD11-AS1 ; biolink:category biolink:Gene . OMIM:612546 a owl:Class ; rdfs:label "METTL27" ; IAO:0000142 PMID:18398435 ; - oboInOwl:hasDbXref UMLS:C1538074 ; oboInOwl:hasExactSynonym "METTL27", "methyltransferase-like 27", "williams-beuren syndrome chromosome region 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155368 ; - skos:exactMatch HGNC_symbol:METTL27 ; + skos:exactMatch UMLS:C1538074, + HGNC:19068, + HGNC_symbol:METTL27 ; biolink:category biolink:Gene . OMIM:612547 a owl:Class ; rdfs:label "TMEM270" ; IAO:0000142 PMID:18398435 ; - oboInOwl:hasDbXref UMLS:C1823658 ; oboInOwl:hasExactSynonym "TMEM270", "transmembrane protein 270", "williams-beuren syndrome chromosome region 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135886 ; - skos:exactMatch HGNC_symbol:TMEM270 ; + skos:exactMatch UMLS:C1823658, + HGNC:23018, + HGNC_symbol:TMEM270 ; biolink:category biolink:Gene . OMIM:612548 a owl:Class ; rdfs:label "TRIM50" ; IAO:0000142 PMID:18398435 ; - oboInOwl:hasDbXref UMLS:C1823490 ; oboInOwl:hasExactSynonym "TRIM50", "trim50a", "tripartite motif-containing protein 50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135892 ; - skos:exactMatch HGNC_symbol:TRIM50 ; + skos:exactMatch UMLS:C1823490, + HGNC:19017, + HGNC_symbol:TRIM50 ; biolink:category biolink:Gene . OMIM:612549 a owl:Class ; rdfs:label "TRIM73" ; IAO:0000142 PMID:18398435 ; - oboInOwl:hasDbXref UMLS:C1823494 ; oboInOwl:hasExactSynonym "TRIM73", "trim50b", "tripartite motif-containing protein 73" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375593 ; - skos:exactMatch HGNC_symbol:TRIM73 ; + skos:exactMatch UMLS:C1823494, + HGNC:18162, + HGNC_symbol:TRIM73 ; biolink:category biolink:Gene . OMIM:612550 a owl:Class ; rdfs:label "TRIM74" ; IAO:0000142 PMID:18398435 ; - oboInOwl:hasDbXref UMLS:C1823495 ; oboInOwl:hasExactSynonym "TRIM74", "trim50c", "tripartite motif-containing protein 74" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:378108 ; - skos:exactMatch HGNC_symbol:TRIM74 ; + skos:exactMatch UMLS:C1823495, + HGNC:17453, + HGNC_symbol:TRIM74 ; biolink:category biolink:Gene . OMIM:612552 a owl:Class ; @@ -306001,27 +318471,29 @@ OMIM:612552 a owl:Class ; IAO:0000142 PMID:17209048, PMID:23533661, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1427093 ; oboInOwl:hasExactSynonym "ZBED4", "bed-type zinc finger domain-containing protein 4", "kiaa0637", "zinc finger bed domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9889 ; - skos:exactMatch HGNC_symbol:ZBED4 ; + skos:exactMatch UMLS:C1427093, + HGNC:20721, + HGNC_symbol:ZBED4 ; biolink:category biolink:Gene . OMIM:612553 a owl:Class ; rdfs:label "MIR370" ; IAO:0000142 PMID:17621267 ; - oboInOwl:hasDbXref UMLS:C1537891 ; oboInOwl:hasExactSynonym "MIR370", "micro RNA 370", "mirn370", "mirna370" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442915 ; - skos:exactMatch HGNC_symbol:MIR370 ; + skos:exactMatch UMLS:C1537891, + HGNC:31784, + HGNC_symbol:MIR370 ; biolink:category biolink:Gene . OMIM:612555 a owl:Class ; @@ -306063,27 +318535,28 @@ OMIM:612555 a owl:Class ; PMID:9585613, PMID:9792861, PMID:9971877 ; - oboInOwl:hasDbXref UMLS:C2675520, - UMLS:C2675521, - UMLS:C2675522 ; oboInOwl:hasExactSynonym "BROVCA2", "breast cancer, familial, susceptibility to, 2", "breast-ovarian cancer, familial, susceptibility to, 2", "hboc2", "ovarian cancer, familial, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:604370 ; + skos:exactMatch UMLS:C2675520, + UMLS:C2675521, + UMLS:C2675522 ; biolink:category biolink:Disease . OMIM:612564 a owl:Class ; rdfs:label "TXNDC9" ; IAO:0000142 PMID:16415341 ; - oboInOwl:hasDbXref UMLS:C1540135 ; oboInOwl:hasExactSynonym "TXNDC9", "phosducin-like protein 3", "thioredoxin domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10190 ; - skos:exactMatch HGNC_symbol:TXNDC9 ; + skos:exactMatch UMLS:C1540135, + HGNC:24110, + HGNC_symbol:TXNDC9 ; biolink:category biolink:Gene . OMIM:612565 a owl:Class ; @@ -306093,12 +318566,13 @@ OMIM:612565 a owl:Class ; PMID:17429068, PMID:20651120, PMID:9030196 ; - oboInOwl:hasDbXref UMLS:C1425479 ; oboInOwl:hasExactSynonym "RAB1B", "ras-associated protein rab1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81876 ; - skos:exactMatch HGNC_symbol:RAB1B ; + skos:exactMatch UMLS:C1425479, + HGNC:18370, + HGNC_symbol:RAB1B ; biolink:category biolink:Gene . OMIM:612567 a owl:Class ; @@ -306109,36 +318583,38 @@ OMIM:612567 a owl:Class ; PMID:19890111, PMID:20228799, PMID:21519361 ; - oboInOwl:hasDbXref UMLS:C2675508 ; oboInOwl:hasExactSynonym "IBD25", "inflammatory bowel disease 25, autosomal recessive", "inflammatory bowel disease, early-onset, autosomal recessive" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2675508 ; biolink:category biolink:Disease . OMIM:612568 a owl:Class ; rdfs:label "SPIC" ; IAO:0000142 PMID:12459275, PMID:19037245 ; - oboInOwl:hasDbXref UMLS:C1428871 ; oboInOwl:hasExactSynonym "SPIC", "spic transcription factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121599 ; - skos:exactMatch HGNC_symbol:SPIC ; + skos:exactMatch UMLS:C1428871, + HGNC:29549, + HGNC_symbol:SPIC ; biolink:category biolink:Gene . OMIM:612569 a owl:Class ; rdfs:label "CCAR1" ; IAO:0000142 PMID:12816952, PMID:18722177 ; - oboInOwl:hasDbXref UMLS:C1428361 ; oboInOwl:hasExactSynonym "CCAR1", "cell cycle and apoptosis regulatory protein 1", "cell division cycle and apoptosis regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55749 ; - skos:exactMatch HGNC_symbol:CCAR1 ; + skos:exactMatch UMLS:C1428361, + HGNC:24236, + HGNC_symbol:CCAR1 ; biolink:category biolink:Gene . OMIM:612570 a owl:Class ; @@ -306161,12 +318637,13 @@ OMIM:612570 a owl:Class ; PMID:9737771 ; RO:0002525 CHR:9606chr5q23.3 ; RO:0003303 OMIM:616118 ; - oboInOwl:hasDbXref UMLS:C1414543 ; oboInOwl:hasExactSynonym "FBN2", "fibrillin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2201 ; - skos:exactMatch HGNC_symbol:FBN2 ; + skos:exactMatch UMLS:C1414543, + HGNC:3604, + HGNC_symbol:FBN2 ; biolink:category biolink:Gene . OMIM:612576 a owl:Class ; @@ -306178,18 +318655,18 @@ OMIM:612576 a owl:Class ; PMID:22147889, PMID:3688036 ; RO:0002525 CHR:9606chr17p13.3-p13.1 ; - oboInOwl:hasDbXref UMLS:C2675492 ; oboInOwl:hasExactSynonym "chromosome 17p13.3, telomeric, duplication syndrome", "split-hand/foot malformation with long bone deficiency 3" ; + skos:exactMatch UMLS:C2675492 ; biolink:category biolink:Disease . OMIM:612577 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 11" ; IAO:0000142 PMID:19118816 ; - oboInOwl:hasDbXref UMLS:C2675491 ; oboInOwl:hasExactSynonym "ALS11", "amyotrophic lateral sclerosis 11" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C2675491 ; biolink:category biolink:Disease . OMIM:612582 a owl:Class ; @@ -306209,22 +318686,23 @@ OMIM:612582 a owl:Class ; PMID:9620769, PMID:9792859 ; RO:0002525 CHR:9606chr6pter-p24 ; - oboInOwl:hasDbXref UMLS:C2675486 ; oboInOwl:hasExactSynonym "chromosome 6pter-p24 deletion syndrome" ; + skos:exactMatch UMLS:C2675486 ; biolink:category biolink:Disease . OMIM:612583 a owl:Class ; rdfs:label "SPNS1" ; IAO:0000142 PMID:12815463, PMID:19074308 ; - oboInOwl:hasDbXref UMLS:C2240043 ; oboInOwl:hasExactSynonym "SPNS1", "sphingolipid transporter 1", "spin1", "spinster, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83985 ; - skos:exactMatch HGNC_symbol:SPNS1 ; + skos:exactMatch UMLS:C2240043, + HGNC:30621, + HGNC_symbol:SPNS1 ; biolink:category biolink:Gene . OMIM:612584 a owl:Class ; @@ -306235,25 +318713,27 @@ OMIM:612584 a owl:Class ; PMID:30973865 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:618457 ; - oboInOwl:hasDbXref UMLS:C2240044 ; oboInOwl:hasExactSynonym "SPNS2", "sphingolipid transporter 2", "spinster, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124976 ; - skos:exactMatch HGNC_symbol:SPNS2 ; + skos:exactMatch UMLS:C2240044, + HGNC:26992, + HGNC_symbol:SPNS2 ; biolink:category biolink:Gene . OMIM:612585 a owl:Class ; rdfs:label "CLPTM1L" ; IAO:0000142 PMID:11162647 ; - oboInOwl:hasDbXref UMLS:C1824755 ; oboInOwl:hasExactSynonym "CLPTM1L", "cisplatin resistance-related protein 9", "clptm1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81037 ; - skos:exactMatch HGNC_symbol:CLPTM1L ; + skos:exactMatch UMLS:C1824755, + HGNC:24308, + HGNC_symbol:CLPTM1L ; biolink:category biolink:Gene . OMIM:612588 a owl:Class ; @@ -306262,14 +318742,15 @@ OMIM:612588 a owl:Class ; PMID:19098914, PMID:24100041, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1424602 ; oboInOwl:hasExactSynonym "BCLAF1", "bcl2-associated transcription factor 1", "btf", "kiaa0164" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9774 ; - skos:exactMatch HGNC_symbol:BCLAF1 ; + skos:exactMatch UMLS:C1424602, + HGNC:16863, + HGNC_symbol:BCLAF1 ; biolink:category biolink:Gene . OMIM:612597 a owl:Class ; @@ -306278,13 +318759,14 @@ OMIM:612597 a owl:Class ; PMID:15781451, PMID:18329370, PMID:19752223 ; - oboInOwl:hasDbXref UMLS:C1824797 ; oboInOwl:hasExactSynonym "CRTAM", "class 1 major histocompatibility complex-restricted t-cell-associated molecule", "cytotoxic and regulatory t-cell molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56253 ; - skos:exactMatch HGNC_symbol:CRTAM ; + skos:exactMatch UMLS:C1824797, + HGNC:24313, + HGNC_symbol:CRTAM ; biolink:category biolink:Gene . OMIM:612598 a owl:Class ; @@ -306295,51 +318777,55 @@ OMIM:612598 a owl:Class ; PMID:14755250, PMID:16123141, PMID:17917589 ; - oboInOwl:hasDbXref UMLS:C1335629 ; oboInOwl:hasExactSynonym "RNF11", "ring finger protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26994 ; - skos:exactMatch HGNC_symbol:RNF11 ; + skos:exactMatch UMLS:C1335629, + HGNC:10056, + HGNC_symbol:RNF11 ; biolink:category biolink:Gene . OMIM:612600 a owl:Class ; rdfs:label "RNMTL1" ; IAO:0000142 PMID:12296377, PMID:12565177 ; - oboInOwl:hasDbXref UMLS:C1425547 ; oboInOwl:hasExactSynonym "RNA methyltransferase-like 1", "RNMTL1", "hc90" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55178 ; - skos:exactMatch HGNC_symbol:MRM3 ; + skos:exactMatch UMLS:C1425547, + HGNC:18485, + HGNC_symbol:MRM3 ; biolink:category biolink:Gene . OMIM:612601 a owl:Class ; rdfs:label "RFPL4A" ; IAO:0000142 PMID:11850190 ; - oboInOwl:hasDbXref UMLS:C2239881 ; oboInOwl:hasExactSynonym "RFPL4A", "ret finger protein-like 4a", "rnf210" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342931 ; - skos:exactMatch HGNC_symbol:RFPL4A ; + skos:exactMatch UMLS:C2239881, + HGNC:16449, + HGNC_symbol:RFPL4A ; biolink:category biolink:Gene . OMIM:612602 a owl:Class ; rdfs:label "RBM15B" ; IAO:0000142 PMID:16129689, PMID:27602518 ; - oboInOwl:hasDbXref UMLS:C1538786 ; oboInOwl:hasExactSynonym "RBM15B", "humagcgb", "one twenty two protein 3", "rna-binding motif protein 15b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29890 ; - skos:exactMatch HGNC_symbol:RBM15B ; + skos:exactMatch UMLS:C1538786, + HGNC:24303, + HGNC_symbol:RBM15B ; biolink:category biolink:Gene . OMIM:612603 a owl:Class ; @@ -306347,7 +318833,6 @@ OMIM:612603 a owl:Class ; IAO:0000142 PMID:11698679, PMID:15854049, PMID:20089530 ; - oboInOwl:hasDbXref UMLS:C1537530 ; oboInOwl:hasExactSynonym "LCE1A", "late cornified envelope gene cluster", "late cornified envelope protein 1a", @@ -306355,85 +318840,93 @@ OMIM:612603 a owl:Class ; "lce gene cluster" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353131 ; - skos:exactMatch HGNC_symbol:LCE1A ; + skos:exactMatch UMLS:C1537530, + HGNC:29459, + HGNC_symbol:LCE1A ; biolink:category biolink:Gene . OMIM:612604 a owl:Class ; rdfs:label "LCE1B" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537531 ; oboInOwl:hasExactSynonym "LCE1B", "late cornified envelope protein 1b", "late envelope protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353132 ; - skos:exactMatch HGNC_symbol:LCE1B ; + skos:exactMatch UMLS:C1537531, + HGNC:16611, + HGNC_symbol:LCE1B ; biolink:category biolink:Gene . OMIM:612605 a owl:Class ; rdfs:label "LCE1C" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537532 ; oboInOwl:hasExactSynonym "LCE1C", "late cornified envelope 1c", "late envelope protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353133 ; - skos:exactMatch HGNC_symbol:LCE1C ; + skos:exactMatch UMLS:C1537532, + HGNC:29464, + HGNC_symbol:LCE1C ; biolink:category biolink:Gene . OMIM:612606 a owl:Class ; rdfs:label "LCE1D" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537533 ; oboInOwl:hasExactSynonym "LCE1D", "late cornified envelope protein 1d", "late envelope protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353134 ; - skos:exactMatch HGNC_symbol:LCE1D ; + skos:exactMatch UMLS:C1537533, + HGNC:29465, + HGNC_symbol:LCE1D ; biolink:category biolink:Gene . OMIM:612607 a owl:Class ; rdfs:label "LCE1E" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537534 ; oboInOwl:hasExactSynonym "LCE1E", "late cornified envelope protein 1e", "late envelope protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353135 ; - skos:exactMatch HGNC_symbol:LCE1E ; + skos:exactMatch UMLS:C1537534, + HGNC:29466, + HGNC_symbol:LCE1E ; biolink:category biolink:Gene . OMIM:612608 a owl:Class ; rdfs:label "LCE1F" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537535 ; oboInOwl:hasExactSynonym "LCE1F", "late cornified envelope protein 1f", "late envelope protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353137 ; - skos:exactMatch HGNC_symbol:LCE1F ; + skos:exactMatch UMLS:C1537535, + HGNC:29467, + HGNC_symbol:LCE1F ; biolink:category biolink:Gene . OMIM:612609 a owl:Class ; rdfs:label "LCE2A" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537536 ; oboInOwl:hasExactSynonym "LCE2A", "late cornified envelope protein 2a", "late envelope protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353139 ; - skos:exactMatch HGNC_symbol:LCE2A ; + skos:exactMatch UMLS:C1537536, + HGNC:29469, + HGNC_symbol:LCE2A ; biolink:category biolink:Gene . OMIM:612610 a owl:Class ; @@ -306441,66 +318934,71 @@ OMIM:612610 a owl:Class ; IAO:0000142 PMID:11698679, PMID:15854049, PMID:9344646 ; - oboInOwl:hasDbXref UMLS:C1537537 ; oboInOwl:hasExactSynonym "LCE2B", "late cornified envelope protein 2b", "late envelope protein 10", "xp5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26239 ; - skos:exactMatch HGNC_symbol:LCE2B ; + skos:exactMatch UMLS:C1537537, + HGNC:16610, + HGNC_symbol:LCE2B ; biolink:category biolink:Gene . OMIM:612611 a owl:Class ; rdfs:label "LCE2C" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537538 ; oboInOwl:hasExactSynonym "LCE2C", "late cornified envelope protein 2c", "late envelope protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353140 ; - skos:exactMatch HGNC_symbol:LCE2C ; + skos:exactMatch UMLS:C1537538, + HGNC:29460, + HGNC_symbol:LCE2C ; biolink:category biolink:Gene . OMIM:612612 a owl:Class ; rdfs:label "LCE2D" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537539 ; oboInOwl:hasExactSynonym "LCE2D", "late cornified envelope protein 2d", "late envelope protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353141 ; - skos:exactMatch HGNC_symbol:LCE2D ; + skos:exactMatch UMLS:C1537539, + HGNC:16518, + HGNC_symbol:LCE2D ; biolink:category biolink:Gene . OMIM:612613 a owl:Class ; rdfs:label "LCE3A" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537540 ; oboInOwl:hasExactSynonym "LCE3A", "late cornified envelope protein 3a", "late envelope protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353142 ; - skos:exactMatch HGNC_symbol:LCE3A ; + skos:exactMatch UMLS:C1537540, + HGNC:29461, + HGNC_symbol:LCE3A ; biolink:category biolink:Gene . OMIM:612614 a owl:Class ; rdfs:label "LCE3B" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537541 ; oboInOwl:hasExactSynonym "LCE3B", "late cornified envelope protein 3b", "late envelope protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353143 ; - skos:exactMatch HGNC_symbol:LCE3B ; + skos:exactMatch UMLS:C1537541, + HGNC:29462, + HGNC_symbol:LCE3B ; biolink:category biolink:Gene . OMIM:612615 a owl:Class ; @@ -306508,65 +319006,70 @@ OMIM:612615 a owl:Class ; IAO:0000142 PMID:11350120, PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537542 ; oboInOwl:hasExactSynonym "LCE3C", "late cornified envelope protein 3c", "late envelope protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353144 ; - skos:exactMatch HGNC_symbol:LCE3C ; + skos:exactMatch UMLS:C1537542, + HGNC:16612, + HGNC_symbol:LCE3C ; biolink:category biolink:Gene . OMIM:612616 a owl:Class ; rdfs:label "LCE3D" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537543 ; oboInOwl:hasExactSynonym "LCE3D", "late cornified envelope protein 3d", "late envelope protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84648 ; - skos:exactMatch HGNC_symbol:LCE3D ; + skos:exactMatch UMLS:C1537543, + HGNC:16615, + HGNC_symbol:LCE3D ; biolink:category biolink:Gene . OMIM:612617 a owl:Class ; rdfs:label "LCE3E" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537544 ; oboInOwl:hasExactSynonym "LCE3E", "late cornified envelope protein 3e", "late envelope protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353145 ; - skos:exactMatch HGNC_symbol:LCE3E ; + skos:exactMatch UMLS:C1537544, + HGNC:29463, + HGNC_symbol:LCE3E ; biolink:category biolink:Gene . OMIM:612618 a owl:Class ; rdfs:label "LCE4A" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537545 ; oboInOwl:hasExactSynonym "LCE4A", "late cornified envelope protein 4a", "late envelope protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199834 ; - skos:exactMatch HGNC_symbol:LCE4A ; + skos:exactMatch UMLS:C1537545, + HGNC:16613, + HGNC_symbol:LCE4A ; biolink:category biolink:Gene . OMIM:612619 a owl:Class ; rdfs:label "LCE5A" ; IAO:0000142 PMID:11698679, PMID:15854049 ; - oboInOwl:hasDbXref UMLS:C1537546 ; oboInOwl:hasExactSynonym "LCE5A", "late cornified envelope protein 5a", "late envelope protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254910 ; - skos:exactMatch HGNC_symbol:LCE5A ; + skos:exactMatch UMLS:C1537546, + HGNC:16614, + HGNC_symbol:LCE5A ; biolink:category biolink:Gene . OMIM:612620 a owl:Class ; @@ -306575,12 +319078,13 @@ OMIM:612620 a owl:Class ; PMID:17367779, PMID:17404571, PMID:19570220 ; - oboInOwl:hasDbXref UMLS:C1427129 ; oboInOwl:hasExactSynonym "RASSF6", "ras association domain family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166824 ; - skos:exactMatch HGNC_symbol:RASSF6 ; + skos:exactMatch UMLS:C1427129, + HGNC:20796, + HGNC_symbol:RASSF6 ; biolink:category biolink:Gene . OMIM:612624 a owl:Class ; @@ -306593,12 +319097,12 @@ OMIM:612624 a owl:Class ; PMID:7909524, PMID:8314010, PMID:9120002 ; - oboInOwl:hasDbXref UMLS:C2675470 ; oboInOwl:hasExactSynonym "MVCD3", "end-stage renal disease, diabetic, susceptibility to", "microvascular complications of diabetes, susceptibility to, 3", "nephropathy, diabetic, susceptibility to" ; rdfs:subClassOf OMIMPS:603933 ; + skos:exactMatch UMLS:C2675470 ; biolink:category biolink:Disease . OMIM:612625 a owl:Class ; @@ -306610,13 +319114,14 @@ OMIM:612625 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chr6q13 ; RO:0003303 OMIM:277380 ; - oboInOwl:hasDbXref UMLS:C1825864 ; oboInOwl:hasExactSynonym "lmbd1", "lmbr1 domain-containing protein 1: lmbrd1", "nes-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55788 ; - skos:exactMatch HGNC_symbol:LMBRD1 ; + skos:exactMatch UMLS:C1825864, + HGNC:23038, + HGNC_symbol:LMBRD1 ; biolink:category biolink:Gene . OMIM:612626 a owl:Class ; @@ -306628,9 +319133,9 @@ OMIM:612626 a owl:Class ; PMID:18651844, PMID:19955558 ; RO:0002525 CHR:9606chr15q26-qter ; - oboInOwl:hasDbXref UMLS:C2675463 ; oboInOwl:hasExactSynonym "chromosome 15q26-qter deletion syndrome", "drayer syndrome" ; + skos:exactMatch UMLS:C2675463 ; biolink:category biolink:Disease . OMIM:612633 a owl:Class ; @@ -306638,11 +319143,11 @@ OMIM:612633 a owl:Class ; IAO:0000142 PMID:11335891, PMID:11918623, PMID:9661650 ; - oboInOwl:hasDbXref UMLS:C2674665 ; oboInOwl:hasExactSynonym "MVCD5", "microvascular complications of diabetes, susceptibility to, 5", "retinopathy, diabetic, susceptibility to" ; rdfs:subClassOf OMIMPS:603933 ; + skos:exactMatch UMLS:C2674665 ; biolink:category biolink:Disease . OMIM:612635 a owl:Class ; @@ -306652,13 +319157,13 @@ OMIM:612635 a owl:Class ; PMID:15347835, PMID:18566337, PMID:678784 ; - oboInOwl:hasDbXref UMLS:C2673520 ; oboInOwl:hasExactSynonym "MVCD7", "microvascular complications of diabetes, susceptibility to, 7", "nephropathy, diabetic, susceptibility to", "nonproliferative retinopathy, diabetic, susceptibility to", "proliferative retinopathy, diabetic, susceptibility to" ; rdfs:subClassOf OMIMPS:603933 ; + skos:exactMatch UMLS:C2673520 ; biolink:category biolink:Disease . OMIM:612636 a owl:Class ; @@ -306672,7 +319177,6 @@ OMIM:612636 a owl:Class ; PMID:26708753 ; RO:0002525 CHR:9606chr2q34 ; RO:0003303 OMIM:616801 ; - oboInOwl:hasDbXref UMLS:C1428609 ; oboInOwl:hasExactSynonym "UNC80", "chromosome 2 open reading frame 21", "kiaa1843", @@ -306680,7 +319184,9 @@ OMIM:612636 a owl:Class ; "unc80, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285175 ; - skos:exactMatch HGNC_symbol:UNC80 ; + skos:exactMatch UMLS:C1428609, + HGNC:26582, + HGNC_symbol:UNC80 ; biolink:category biolink:Gene . OMIM:612638 a owl:Class ; @@ -306690,25 +319196,27 @@ OMIM:612638 a owl:Class ; PMID:24191001 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:618236 ; - oboInOwl:hasDbXref UMLS:C1426901 ; oboInOwl:hasExactSynonym "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 11", "NDUFA11", "nadh-ubiquinone oxidoreductase subunit a11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126328 ; - skos:exactMatch HGNC_symbol:NDUFA11 ; + skos:exactMatch UMLS:C1426901, + HGNC:20371, + HGNC_symbol:NDUFA11 ; biolink:category biolink:Gene . OMIM:612640 a owl:Class ; rdfs:label "TBATA" ; IAO:0000142 PMID:18208870 ; - oboInOwl:hasDbXref UMLS:C1428114 ; oboInOwl:hasExactSynonym "TBATA", "chromosome 10 open reading frame 27", "thymus, brain, and testes associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219793 ; - skos:exactMatch HGNC_symbol:TBATA ; + skos:exactMatch UMLS:C1428114, + HGNC:23511, + HGNC_symbol:TBATA ; biolink:category biolink:Gene . OMIM:612641 a owl:Class ; @@ -306732,12 +319240,6 @@ OMIM:612641 a owl:Class ; PMID:9590147 ; RO:0002525 CHR:9606chr8p11.21 ; RO:0003303 OMIM:182900 ; - oboInOwl:hasDbXref UMLS:C1412402, - UMLS:C4017274, - UMLS:C4017275, - UMLS:C4017276, - UMLS:C4017277, - UMLS:C4017278 ; oboInOwl:hasExactSynonym "ANK1", "ankyrin 1", "ankyrin 1 muscle-specific isoform", @@ -306745,25 +319247,32 @@ OMIM:612641 a owl:Class ; "ankyrin-r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286 ; - skos:exactMatch HGNC_symbol:ANK1 ; + skos:exactMatch UMLS:C1412402, + UMLS:C4017274, + UMLS:C4017275, + UMLS:C4017276, + UMLS:C4017277, + UMLS:C4017278, + HGNC:492, + HGNC_symbol:ANK1 ; biolink:category biolink:Gene . OMIM:612643 a owl:Class ; rdfs:label "deafness, autosomal dominant 3b" ; IAO:0000142 PMID:10471490 ; - oboInOwl:hasDbXref UMLS:C2675237 ; oboInOwl:hasExactSynonym "DFNA3B", "deafness, autosomal dominant 3b" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C2675237 ; biolink:category biolink:Disease . OMIM:612644 a owl:Class ; rdfs:label "deafness, autosomal dominant 2b" ; IAO:0000142 PMID:9843210 ; - oboInOwl:hasDbXref UMLS:C2675236 ; oboInOwl:hasExactSynonym "DFNA2B", "deafness, autosomal dominant 2b" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C2675236 ; biolink:category biolink:Disease . OMIM:612645 a owl:Class ; @@ -306772,22 +319281,23 @@ OMIM:612645 a owl:Class ; PMID:11896458, PMID:18580690, PMID:21465647 ; - oboInOwl:hasDbXref UMLS:C2675235 ; oboInOwl:hasExactSynonym "DFNB1B", "deafness, autosomal recessive 1b" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C2675235 ; biolink:category biolink:Disease . OMIM:612646 a owl:Class ; rdfs:label "MACC1" ; IAO:0000142 PMID:19098908 ; - oboInOwl:hasDbXref UMLS:C2675234 ; oboInOwl:hasExactSynonym "MACC1", "met transcriptional regulator macc1", "metastasis-associated gene 1n colon cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:346389 ; - skos:exactMatch HGNC_symbol:MACC1 ; + skos:exactMatch UMLS:C2675234, + HGNC:30215, + HGNC_symbol:MACC1 ; biolink:category biolink:Gene . OMIM:612647 a owl:Class ; @@ -306797,13 +319307,14 @@ OMIM:612647 a owl:Class ; PMID:23993197 ; RO:0002525 CHR:9606chr6q22.1 ; RO:0003303 OMIM:612649 ; - oboInOwl:hasDbXref UMLS:C1427608 ; oboInOwl:hasExactSynonym "RSPH4A", "radial spoke head 4, chlamydomonas, homolog of, a", "radial spoke head component 4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345895 ; - skos:exactMatch HGNC_symbol:RSPH4A ; + skos:exactMatch UMLS:C1427608, + HGNC:21558, + HGNC_symbol:RSPH4A ; biolink:category biolink:Gene . OMIM:612648 a owl:Class ; @@ -306813,23 +319324,24 @@ OMIM:612648 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:612650 ; - oboInOwl:hasDbXref UMLS:C1427279 ; oboInOwl:hasExactSynonym "RSPH9", "radial spoke head 9, chlamydomonas, homolog of", "radial spoke head component 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221421 ; - skos:exactMatch HGNC_symbol:RSPH9 ; + skos:exactMatch UMLS:C1427279, + HGNC:21057, + HGNC_symbol:RSPH9 ; biolink:category biolink:Gene . OMIM:612651 a owl:Class ; rdfs:label "endocrine-cerebroosteodysplasia" ; IAO:0000142 PMID:19185282, PMID:27069622 ; - oboInOwl:hasDbXref UMLS:C2675227, - ORPHA:199332 ; oboInOwl:hasExactSynonym "ECO", "endocrine-cerebroosteodysplasia" ; + skos:exactMatch UMLS:C2675227, + ORPHA:199332 ; biolink:category biolink:Disease . OMIM:612652 a owl:Class ; @@ -306848,10 +319360,10 @@ OMIM:612653 a owl:Class ; PMID:9233560, PMID:9734643, PMID:9973643 ; - oboInOwl:hasDbXref UMLS:C2675212 ; oboInOwl:hasExactSynonym "SPH4", "spherocytosis, iia 4", "spherocytosis, hereditary, 4" ; + skos:exactMatch UMLS:C2675212 ; biolink:category biolink:Disease . OMIM:612654 a owl:Class ; @@ -306859,14 +319371,15 @@ OMIM:612654 a owl:Class ; IAO:0000142 PMID:15731013, PMID:18931701, PMID:25270598 ; - oboInOwl:hasDbXref UMLS:C1823256 ; oboInOwl:hasExactSynonym "TCHP", "mitostatin", "trichoplein", "trichoplein, keratin filament-binding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84260 ; - skos:exactMatch HGNC_symbol:TCHP ; + skos:exactMatch UMLS:C1823256, + HGNC:28135, + HGNC_symbol:TCHP ; biolink:category biolink:Gene . OMIM:612655 a owl:Class ; @@ -306876,7 +319389,6 @@ OMIM:612655 a owl:Class ; PMID:24515783 ; RO:0002525 CHR:9606chr6p24.1 ; RO:0003303 OMIM:248000 ; - oboInOwl:hasDbXref UMLS:C1427287 ; oboInOwl:hasExactSynonym "TBC1D7", "cell migration-inducing protein 23", "pig51", @@ -306884,7 +319396,9 @@ OMIM:612655 a owl:Class ; "tbc7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51256 ; - skos:exactMatch HGNC_symbol:TBC1D7 ; + skos:exactMatch UMLS:C1427287, + HGNC:21066, + HGNC_symbol:TBC1D7 ; biolink:category biolink:Gene . OMIM:612657 a owl:Class ; @@ -306892,24 +319406,25 @@ OMIM:612657 a owl:Class ; IAO:0000142 PMID:18654668, PMID:24474277, PMID:26702251 ; - oboInOwl:hasDbXref UMLS:C2675210, - ORPHA:1872 ; oboInOwl:hasExactSynonym "CORD12", "cone-rod dystrophy 12" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C2675210, + ORPHA:1872 ; biolink:category biolink:Disease . OMIM:612658 a owl:Class ; rdfs:label "TJAP1" ; IAO:0000142 PMID:11602598 ; - oboInOwl:hasDbXref UMLS:C1823283 ; oboInOwl:hasExactSynonym "TJAP1", "protein incorporated later into tight junctions", "tight junction protein 4", "tight junction-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93643 ; - skos:exactMatch HGNC_symbol:TJAP1 ; + skos:exactMatch UMLS:C1823283, + HGNC:17949, + HGNC_symbol:TJAP1 ; biolink:category biolink:Gene . OMIM:612659 a owl:Class ; @@ -306923,25 +319438,27 @@ OMIM:612659 a owl:Class ; PMID:26264437 ; RO:0002525 CHR:9606chr6q22.1 ; RO:0003303 OMIM:615710 ; - oboInOwl:hasDbXref UMLS:C1427569 ; oboInOwl:hasExactSynonym "RFX6", "regulatory factor x, 6", "rfxdc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222546 ; - skos:exactMatch HGNC_symbol:RFX6 ; + skos:exactMatch UMLS:C1427569, + HGNC:21478, + HGNC_symbol:RFX6 ; biolink:category biolink:Gene . OMIM:612660 a owl:Class ; rdfs:label "RFX7" ; IAO:0000142 PMID:18673564 ; - oboInOwl:hasDbXref UMLS:C1826811 ; oboInOwl:hasExactSynonym "RFX7", "regulatory factor x, 7", "rfxdc2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64864 ; - skos:exactMatch HGNC_symbol:RFX7 ; + skos:exactMatch UMLS:C1826811, + HGNC:25777, + HGNC_symbol:RFX7 ; biolink:category biolink:Gene . OMIM:612661 a owl:Class ; @@ -306952,57 +319469,60 @@ OMIM:612661 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:613988 ; - oboInOwl:hasDbXref UMLS:C1823843 ; oboInOwl:hasExactSynonym "WRAP53", "telomerase cajal body protein 1", "wd repeat-containing protein 79", "wd repeat-containing protein antisense to tp53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55135 ; - skos:exactMatch HGNC_symbol:WRAP53 ; + skos:exactMatch UMLS:C1823843, + HGNC:25522, + HGNC_symbol:WRAP53 ; biolink:category biolink:Gene . OMIM:612662 a owl:Class ; rdfs:label "TBC1D15" ; IAO:0000142 PMID:16055087, PMID:29364868 ; - oboInOwl:hasDbXref UMLS:C1428511 ; oboInOwl:hasExactSynonym "TBC1D15", "tbc1 domain family, member 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64786 ; - skos:exactMatch HGNC_symbol:TBC1D15 ; + skos:exactMatch UMLS:C1428511, + HGNC:25694, + HGNC_symbol:TBC1D15 ; biolink:category biolink:Gene . OMIM:612663 a owl:Class ; rdfs:label "TIFAB" ; IAO:0000142 PMID:15047173, PMID:26458771 ; - oboInOwl:hasDbXref UMLS:C2675209 ; oboInOwl:hasExactSynonym "TIFAB", "tifa-related protein", "traf-interacting protein with forkhead-associated domain, family member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:497189 ; - skos:exactMatch HGNC_symbol:TIFAB ; + skos:exactMatch UMLS:C2675209, + HGNC:34024, + HGNC_symbol:TIFAB ; biolink:category biolink:Gene . OMIM:612664 a owl:Class ; rdfs:label "RERG" ; IAO:0000142 PMID:11533059 ; - oboInOwl:hasDbXref UMLS:C1423882 ; oboInOwl:hasExactSynonym "RERG", "ras-like and estrogen-regulated growth inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85004 ; - skos:exactMatch HGNC_symbol:RERG ; + skos:exactMatch UMLS:C1423882, + HGNC:15980, + HGNC_symbol:RERG ; biolink:category biolink:Gene . OMIM:612665 a owl:Class ; rdfs:label "TEX101" ; IAO:0000142 PMID:15689535, PMID:16516155 ; - oboInOwl:hasDbXref UMLS:C1539948 ; oboInOwl:hasExactSynonym "TEX101", "scleroderma-associated autoantigen", "spermatogenesis-related gene", @@ -307010,7 +319530,9 @@ OMIM:612665 a owl:Class ; "testis-specific 101 reactive protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83639 ; - skos:exactMatch HGNC_symbol:TEX101 ; + skos:exactMatch UMLS:C1539948, + HGNC:30722, + HGNC_symbol:TEX101 ; biolink:category biolink:Gene . OMIM:612666 a owl:Class ; @@ -307025,7 +319547,6 @@ OMIM:612666 a owl:Class ; PMID:9455484 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:270750 ; - oboInOwl:hasDbXref UMLS:C1538843 ; oboInOwl:hasExactSynonym "DSTYK", "dual serine/threonine and tyrosine protein kinase", "dusty protein kinase", @@ -307034,19 +319555,22 @@ OMIM:612666 a owl:Class ; "receptor-interacting serine/threonine kinase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25778 ; - skos:exactMatch HGNC_symbol:DSTYK ; + skos:exactMatch UMLS:C1538843, + HGNC:29043, + HGNC_symbol:DSTYK ; biolink:category biolink:Gene . OMIM:612667 a owl:Class ; rdfs:label "HJURP" ; IAO:0000142 PMID:17823411, PMID:26942680 ; - oboInOwl:hasDbXref UMLS:C2239515 ; oboInOwl:hasExactSynonym "HJURP", "holliday junction recognition protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55355 ; - skos:exactMatch HGNC_symbol:HJURP ; + skos:exactMatch UMLS:C2239515, + HGNC:25444, + HGNC_symbol:HJURP ; biolink:category biolink:Gene . OMIM:612668 a owl:Class ; @@ -307054,13 +319578,14 @@ OMIM:612668 a owl:Class ; IAO:0000142 PMID:12584440, PMID:15537898, PMID:19628819 ; - oboInOwl:hasDbXref UMLS:C1425845 ; oboInOwl:hasExactSynonym "TAS2R43", "t2r52", "taste receptor, iia 2, member 43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259289 ; - skos:exactMatch HGNC_symbol:TAS2R43 ; + skos:exactMatch UMLS:C1425845, + HGNC:18875, + HGNC_symbol:TAS2R43 ; biolink:category biolink:Gene . OMIM:612669 a owl:Class ; @@ -307069,14 +319594,15 @@ OMIM:612669 a owl:Class ; PMID:15537898, PMID:20534469, PMID:20972434 ; - oboInOwl:hasDbXref UMLS:C1426019 ; oboInOwl:hasExactSynonym "TAS2R31", "t2r53", "taste receptor, iia 2, member 31", "taste receptor, iia 2, member 44, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259290 ; - skos:exactMatch HGNC_symbol:TAS2R31 ; + skos:exactMatch UMLS:C1426019, + HGNC:19113, + HGNC_symbol:TAS2R31 ; biolink:category biolink:Gene . OMIM:612670 a owl:Class ; @@ -307089,12 +319615,13 @@ OMIM:612672 a owl:Class ; PMID:15971998, PMID:16154996, PMID:9918381 ; - oboInOwl:hasDbXref UMLS:C1419188 ; oboInOwl:hasExactSynonym "RAB10", "ras-associated protein rab10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10890 ; - skos:exactMatch HGNC_symbol:RAB10 ; + skos:exactMatch UMLS:C1419188, + HGNC:9759, + HGNC_symbol:RAB10 ; biolink:category biolink:Gene . OMIM:612673 a owl:Class ; @@ -307102,25 +319629,27 @@ OMIM:612673 a owl:Class ; IAO:0000142 PMID:15004230, PMID:15971998, PMID:16154996 ; - oboInOwl:hasDbXref UMLS:C1424352 ; oboInOwl:hasExactSynonym "RAB14", "ras-associated protein rab14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51552 ; - skos:exactMatch HGNC_symbol:RAB14 ; + skos:exactMatch UMLS:C1424352, + HGNC:16524, + HGNC_symbol:RAB14 ; biolink:category biolink:Gene . OMIM:612675 a owl:Class ; rdfs:label "SCARNA15" ; IAO:0000142 PMID:15199136, PMID:19026782 ; - oboInOwl:hasDbXref UMLS:C1822639 ; oboInOwl:hasExactSynonym "SCARNA15", "aca45", "small cajal body-specific RNA 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677778 ; - skos:exactMatch HGNC_symbol:SCARNA15 ; + skos:exactMatch UMLS:C1822639, + HGNC:32572, + HGNC_symbol:SCARNA15 ; biolink:category biolink:Gene . OMIM:612676 a owl:Class ; @@ -307140,13 +319669,14 @@ OMIM:612676 a owl:Class ; PMID:9744478 ; RO:0002525 CHR:9606chr4p15.32 ; RO:0003303 OMIM:261630 ; - oboInOwl:hasDbXref UMLS:C1419182 ; oboInOwl:hasExactSynonym "QDPR", "dihydropteridine reductase", "quinoid dihydropteridine reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5860 ; - skos:exactMatch HGNC_symbol:QDPR ; + skos:exactMatch UMLS:C1419182, + HGNC:9752, + HGNC_symbol:QDPR ; biolink:category biolink:Gene . OMIM:612677 a owl:Class ; @@ -307154,13 +319684,14 @@ OMIM:612677 a owl:Class ; IAO:0000142 PMID:15122330, PMID:16479015, PMID:18247378 ; - oboInOwl:hasDbXref UMLS:C1538760 ; oboInOwl:hasExactSynonym "PYHIN1", "interferon-inducible protein 10", "pyrin and hin domain family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149628 ; - skos:exactMatch HGNC_symbol:PYHIN1 ; + skos:exactMatch UMLS:C1538760, + HGNC:28894, + HGNC_symbol:PYHIN1 ; biolink:category biolink:Gene . OMIM:612678 a owl:Class ; @@ -307170,7 +319701,6 @@ OMIM:612678 a owl:Class ; PMID:14761971, PMID:17725984, PMID:23209433 ; - oboInOwl:hasDbXref UMLS:C1420843 ; oboInOwl:hasExactSynonym "CELF3", "bruno-like 1", "cugbp- and elav-like family, member 3", @@ -307178,7 +319708,9 @@ OMIM:612678 a owl:Class ; "trinucleotide repeat-containing gene 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11189 ; - skos:exactMatch HGNC_symbol:CELF3 ; + skos:exactMatch UMLS:C1420843, + HGNC:11967, + HGNC_symbol:CELF3 ; biolink:category biolink:Gene . OMIM:612679 a owl:Class ; @@ -307189,14 +319721,15 @@ OMIM:612679 a owl:Class ; PMID:17677002, PMID:21745337, PMID:23209433 ; - oboInOwl:hasDbXref UMLS:C1422349 ; oboInOwl:hasExactSynonym "CELF4", "bruno-like 4", "cugbp- and elav-like family, member 4", "cugbp- and etr3-like factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56853 ; - skos:exactMatch HGNC_symbol:CELF4 ; + skos:exactMatch UMLS:C1422349, + HGNC:14015, + HGNC_symbol:CELF4 ; biolink:category biolink:Gene . OMIM:612680 a owl:Class ; @@ -307205,14 +319738,15 @@ OMIM:612680 a owl:Class ; PMID:11158314, PMID:14761971, PMID:23209433 ; - oboInOwl:hasDbXref UMLS:C2675196 ; oboInOwl:hasExactSynonym "CELF5", "bruno-like 5", "cugbp- and elav-like family, member 5", "cugbp- and etr3-like factor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60680 ; - skos:exactMatch HGNC_symbol:CELF5 ; + skos:exactMatch UMLS:C2675196, + HGNC:14058, + HGNC_symbol:CELF5 ; biolink:category biolink:Gene . OMIM:612681 a owl:Class ; @@ -307220,20 +319754,20 @@ OMIM:612681 a owl:Class ; IAO:0000142 PMID:10893231, PMID:14761971, PMID:23209433 ; - oboInOwl:hasDbXref UMLS:C1422382 ; oboInOwl:hasExactSynonym "CELF6", "bruno-like 6", "cugbp- and elav-like family, member 6", "cugbp- and etr3-like factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60677 ; - skos:exactMatch HGNC_symbol:CELF6 ; + skos:exactMatch UMLS:C1422382, + HGNC:14059, + HGNC_symbol:CELF6 ; biolink:category biolink:Gene . OMIM:612682 a owl:Class ; rdfs:label "DRAXIN" ; IAO:0000142 PMID:19150847 ; - oboInOwl:hasDbXref UMLS:C1823801 ; oboInOwl:hasExactSynonym "DRAXIN", "chromosome 1 open reading frame 187", "dorsal inhibitory axon guidance protein", @@ -307241,32 +319775,36 @@ OMIM:612682 a owl:Class ; "neucrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374946 ; - skos:exactMatch HGNC_symbol:DRAXIN ; + skos:exactMatch UMLS:C1823801, + HGNC:25054, + HGNC_symbol:DRAXIN ; biolink:category biolink:Gene . OMIM:612683 a owl:Class ; rdfs:label "TEKT3" ; IAO:0000142 PMID:14735490 ; - oboInOwl:hasDbXref UMLS:C1422549 ; oboInOwl:hasExactSynonym "TEKT3", "tektin 3", "testicular microtubules-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64518 ; - skos:exactMatch HGNC_symbol:TEKT3 ; + skos:exactMatch UMLS:C1422549, + HGNC:14293, + HGNC_symbol:TEKT3 ; biolink:category biolink:Gene . OMIM:612684 a owl:Class ; rdfs:label "ISM2" ; IAO:0000142 PMID:15194193 ; - oboInOwl:hasDbXref UMLS:C1427968 ; oboInOwl:hasExactSynonym "ISM2", "isthmin 2, zebrafish, homolog of", "thrombospondin iia 1 domain-containing protein 3", "thrombospondin- and amop-containing isthmin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145501 ; - skos:exactMatch HGNC_symbol:ISM2 ; + skos:exactMatch UMLS:C1427968, + HGNC:23176, + HGNC_symbol:ISM2 ; biolink:category biolink:Gene . OMIM:612685 a owl:Class ; @@ -307275,25 +319813,27 @@ OMIM:612685 a owl:Class ; PMID:19041755, PMID:19508979, PMID:28860385 ; - oboInOwl:hasDbXref UMLS:C1428832 ; oboInOwl:hasExactSynonym "CAMSAP3", "calmodulin-regulated spectrin-associated protein 3", "kiaa1543 gene", "nezha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57662 ; - skos:exactMatch HGNC_symbol:CAMSAP3 ; + skos:exactMatch UMLS:C1428832, + HGNC:29307, + HGNC_symbol:CAMSAP3 ; biolink:category biolink:Gene . OMIM:612686 a owl:Class ; rdfs:label "PLEKHA7" ; IAO:0000142 PMID:19041755 ; - oboInOwl:hasDbXref UMLS:C1538670 ; oboInOwl:hasExactSynonym "PLEKHA7", "pleckstrin homology domain-containing protein, family a, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144100 ; - skos:exactMatch HGNC_symbol:PLEKHA7 ; + skos:exactMatch UMLS:C1538670, + HGNC:27049, + HGNC_symbol:PLEKHA7 ; biolink:category biolink:Gene . OMIM:612687 a owl:Class ; @@ -307302,14 +319842,15 @@ OMIM:612687 a owl:Class ; PMID:15671031, PMID:21187450, PMID:23744777 ; - oboInOwl:hasDbXref UMLS:C1428631 ; oboInOwl:hasExactSynonym "RGMB", "dragon", "repulsive guidance molecule B", "rgm domain family, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285704 ; - skos:exactMatch HGNC_symbol:RGMB ; + skos:exactMatch UMLS:C1428631, + HGNC:26896, + HGNC_symbol:RGMB ; biolink:category biolink:Gene . OMIM:612688 a owl:Class ; @@ -307322,12 +319863,13 @@ OMIM:612688 a owl:Class ; PMID:26503038 ; RO:0002525 CHR:9606chr3q29 ; RO:0003303 OMIM:611943 ; - oboInOwl:hasDbXref UMLS:C1538866 ; oboInOwl:hasExactSynonym "RNF168", "ring finger protein 168" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:165918 ; - skos:exactMatch HGNC_symbol:RNF168 ; + skos:exactMatch UMLS:C1538866, + HGNC:26661, + HGNC_symbol:RNF168 ; biolink:category biolink:Gene . OMIM:612689 a owl:Class ; @@ -307335,34 +319877,36 @@ OMIM:612689 a owl:Class ; IAO:0000142 PMID:10601346, PMID:12021270, PMID:9531559 ; - oboInOwl:hasDbXref UMLS:C1420746 ; oboInOwl:hasExactSynonym "TJP3", "tight junction protein 3", "zona occludens 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27134 ; - skos:exactMatch HGNC_symbol:TJP3 ; + skos:exactMatch UMLS:C1420746, + HGNC:11829, + HGNC_symbol:TJP3 ; biolink:category biolink:Gene . OMIM:612691 a owl:Class ; rdfs:label "polymicrogyria, bilateral temporooccipital" ; IAO:0000142 PMID:24598713 ; - oboInOwl:hasDbXref UMLS:C4013648 ; oboInOwl:hasExactSynonym "BTOP", "polymicrogyria, bilateral temporooccipital" ; + skos:exactMatch UMLS:C4013648 ; biolink:category biolink:Disease . OMIM:612693 a owl:Class ; rdfs:label "URM1" ; IAO:0000142 PMID:16046629, PMID:19017811 ; - oboInOwl:hasDbXref UMLS:C1823603 ; oboInOwl:hasExactSynonym "URM1", "ubiquitin-related modifier 1", "ubiquitin-related modifier 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81605 ; - skos:exactMatch HGNC_symbol:URM1 ; + skos:exactMatch UMLS:C1823603, + HGNC:28378, + HGNC_symbol:URM1 ; biolink:category biolink:Gene . OMIM:612694 a owl:Class ; @@ -307370,13 +319914,14 @@ OMIM:612694 a owl:Class ; IAO:0000142 PMID:18391219, PMID:19017811, PMID:29925953 ; - oboInOwl:hasDbXref UMLS:C1825847 ; oboInOwl:hasExactSynonym "CTU1", "atp-binding domain protein 3", "cytosolic thiouridylase, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90353 ; - skos:exactMatch HGNC_symbol:CTU1 ; + skos:exactMatch UMLS:C1825847, + HGNC:29590, + HGNC_symbol:CTU1 ; biolink:category biolink:Gene . OMIM:612695 a owl:Class ; @@ -307386,14 +319931,15 @@ OMIM:612695 a owl:Class ; PMID:12758122, PMID:19298825, PMID:9535882 ; - oboInOwl:hasDbXref UMLS:C1421429 ; oboInOwl:hasExactSynonym "VTRNA1-1", "hvg1", "vault RNA 1-1", "vault RNA component 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56664 ; - skos:exactMatch HGNC_symbol:VTRNA1-1 ; + skos:exactMatch UMLS:C1421429, + HGNC:12654, + HGNC_symbol:VTRNA1-1 ; biolink:category biolink:Gene . OMIM:612696 a owl:Class ; @@ -307403,14 +319949,15 @@ OMIM:612696 a owl:Class ; PMID:12758122, PMID:19298825, PMID:9535882 ; - oboInOwl:hasDbXref UMLS:C1421430 ; oboInOwl:hasExactSynonym "VTRNA1-2", "hvg2", "vault RNA 1-2", "vault RNA component 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56663 ; - skos:exactMatch HGNC_symbol:VTRNA1-2 ; + skos:exactMatch UMLS:C1421430, + HGNC:12655, + HGNC_symbol:VTRNA1-2 ; biolink:category biolink:Gene . OMIM:612697 a owl:Class ; @@ -307420,35 +319967,36 @@ OMIM:612697 a owl:Class ; PMID:12758122, PMID:19298825, PMID:9535882 ; - oboInOwl:hasDbXref UMLS:C1421431 ; oboInOwl:hasExactSynonym "VTRNA1-3", "hvg3", "vault RNA 1-3", "vault RNA component 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56662 ; - skos:exactMatch HGNC_symbol:VTRNA1-3 ; + skos:exactMatch UMLS:C1421431, + HGNC:12656, + HGNC_symbol:VTRNA1-3 ; biolink:category biolink:Gene . OMIM:612698 a owl:Class ; rdfs:label "MIR187" ; IAO:0000142 PMID:12554860, PMID:18270258 ; - oboInOwl:hasDbXref UMLS:C1537821 ; oboInOwl:hasExactSynonym "MIR187", "micro RNA 187", "mirn187", "mirna187" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406963 ; - skos:exactMatch HGNC_symbol:MIR187 ; + skos:exactMatch UMLS:C1537821, + HGNC:31558, + HGNC_symbol:MIR187 ; biolink:category biolink:Gene . OMIM:612699 a owl:Class ; rdfs:label "RIMBP3" ; IAO:0000142 PMID:11258795, PMID:17855024 ; - oboInOwl:hasDbXref UMLS:C2239888 ; oboInOwl:hasExactSynonym "RIMBP3", "kiaa1666", "rimbp3.1", @@ -307456,115 +320004,125 @@ OMIM:612699 a owl:Class ; "rims-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85376 ; - skos:exactMatch HGNC_symbol:RIMBP3 ; + skos:exactMatch UMLS:C2239888, + HGNC:29344, + HGNC_symbol:RIMBP3 ; biolink:category biolink:Gene . OMIM:612700 a owl:Class ; rdfs:label "RIMBP3B" ; IAO:0000142 PMID:17855024 ; - oboInOwl:hasDbXref UMLS:C2239889 ; oboInOwl:hasExactSynonym "RIMBP3B", "rimbp3.2", "rims-binding protein 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440804 ; - skos:exactMatch HGNC_symbol:RIMBP3B ; + skos:exactMatch UMLS:C2239889, + HGNC:33891, + HGNC_symbol:RIMBP3B ; biolink:category biolink:Gene . OMIM:612701 a owl:Class ; rdfs:label "RIMBP3C" ; IAO:0000142 PMID:17855024 ; - oboInOwl:hasDbXref UMLS:C2239890 ; oboInOwl:hasExactSynonym "RIMBP3C", "rimbp3.3", "rims-binding protein 3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150221 ; - skos:exactMatch HGNC_symbol:RIMBP3C ; + skos:exactMatch UMLS:C2239890, + HGNC:33892, + HGNC_symbol:RIMBP3C ; biolink:category biolink:Gene . OMIM:612704 a owl:Class ; rdfs:label "RGPD1" ; IAO:0000142 PMID:15710750 ; - oboInOwl:hasDbXref UMLS:C1826812 ; oboInOwl:hasExactSynonym "RGPD1", "ranbp2-like and grip domain-containing protein 1", "rgp1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400966 ; - skos:exactMatch HGNC_symbol:RGPD1 ; + skos:exactMatch UMLS:C1826812, + HGNC:32414, + HGNC_symbol:RGPD1 ; biolink:category biolink:Gene . OMIM:612705 a owl:Class ; rdfs:label "RGPD2" ; IAO:0000142 PMID:15710750 ; - oboInOwl:hasDbXref UMLS:C1826813 ; oboInOwl:hasExactSynonym "RGPD2", "ranbp2-like and grip domain-containing protein 2", "rgp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729857 ; - skos:exactMatch HGNC_symbol:RGPD2 ; + skos:exactMatch UMLS:C1826813, + HGNC:32415, + HGNC_symbol:RGPD2 ; biolink:category biolink:Gene . OMIM:612706 a owl:Class ; rdfs:label "RGPD3" ; IAO:0000142 PMID:15710750 ; - oboInOwl:hasDbXref UMLS:C1826814 ; oboInOwl:hasExactSynonym "RGPD3", "ranbp2-like and grip domain-containing protein 3", "rgp3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653489 ; - skos:exactMatch HGNC_symbol:RGPD3 ; + skos:exactMatch UMLS:C1826814, + HGNC:32416, + HGNC_symbol:RGPD3 ; biolink:category biolink:Gene . OMIM:612707 a owl:Class ; rdfs:label "RGPD4" ; IAO:0000142 PMID:15710750 ; - oboInOwl:hasDbXref UMLS:C1826815 ; oboInOwl:hasExactSynonym "RGPD4", "ranbp2-like and grip domain-containing protein 4", "rgp4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285190 ; - skos:exactMatch HGNC_symbol:RGPD4 ; + skos:exactMatch UMLS:C1826815, + HGNC:32417, + HGNC_symbol:RGPD4 ; biolink:category biolink:Gene . OMIM:612708 a owl:Class ; rdfs:label "RGPD5" ; IAO:0000142 PMID:11774384, PMID:15710750 ; - oboInOwl:hasDbXref UMLS:C1826816 ; oboInOwl:hasExactSynonym "RGPD5", "bs63", "ranbp2-like and grip domain-containing protein 5", "rgp5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84220 ; - skos:exactMatch HGNC_symbol:RGPD5 ; + skos:exactMatch UMLS:C1826816, + HGNC:32418, + HGNC_symbol:RGPD5 ; biolink:category biolink:Gene . OMIM:612709 a owl:Class ; rdfs:label "RGPD6" ; IAO:0000142 PMID:15710750 ; - oboInOwl:hasDbXref UMLS:C1826817 ; oboInOwl:hasExactSynonym "RGPD6", "ranbp2-like and grip domain-containing protein 6", "rgp6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729540 ; - skos:exactMatch HGNC_symbol:RGPD6 ; + skos:exactMatch UMLS:C1826817, + HGNC:32419, + HGNC_symbol:RGPD6 ; biolink:category biolink:Gene . OMIM:612710 a owl:Class ; rdfs:label "RGPD7" ; IAO:0000142 PMID:15710750 ; - oboInOwl:hasDbXref UMLS:C1826818 ; oboInOwl:hasExactSynonym "RGPD7", "ranbp2-like and grip domain-containing protein 7", "rgp7" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1826818 ; biolink:category biolink:Gene . OMIM:612711 a owl:Class ; @@ -307573,14 +320131,15 @@ OMIM:612711 a owl:Class ; PMID:15710750, PMID:16885419, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1427997 ; oboInOwl:hasExactSynonym "GCC2", "gcc protein, 185-kd", "grip and coiled-coil domain-containing protein 2", "kiaa0336" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9648 ; - skos:exactMatch HGNC_symbol:GCC2 ; + skos:exactMatch UMLS:C1427997, + HGNC:23218, + HGNC_symbol:GCC2 ; biolink:category biolink:Gene . OMIM:612718 a owl:Class ; @@ -307595,7 +320154,6 @@ OMIM:612718 a owl:Class ; PMID:22386973, PMID:23660394, PMID:23770102 ; - oboInOwl:hasDbXref UMLS:C2675179 ; oboInOwl:hasExactSynonym "CCDS3", "agat deficiency", "arginine:glycine amidinotransferase deficiency", @@ -307603,6 +320161,7 @@ OMIM:612718 a owl:Class ; "creatine deficiency syndrome due to agat deficiency", "gatm deficiency" ; rdfs:subClassOf OMIMPS:300352 ; + skos:exactMatch UMLS:C2675179 ; biolink:category biolink:Disease . OMIM:612719 a owl:Class ; @@ -307624,36 +320183,39 @@ OMIM:612719 a owl:Class ; PMID:9450907 ; RO:0002525 CHR:9606chr11q23.1 ; RO:0003303 OMIM:261640 ; - oboInOwl:hasDbXref UMLS:C1419129 ; oboInOwl:hasExactSynonym "6-pyruvoyl-tetrahydropterin synthase", "PTS", "ptps" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5805 ; - skos:exactMatch HGNC_symbol:PTS ; + skos:exactMatch UMLS:C1419129, + HGNC:9689, + HGNC_symbol:PTS ; biolink:category biolink:Gene . OMIM:612720 a owl:Class ; rdfs:label "DHX29" ; IAO:0000142 PMID:19109895 ; - oboInOwl:hasDbXref UMLS:C1423751 ; oboInOwl:hasExactSynonym "DHX29", "deah-box polypeptide 29", "dexh-box helicase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54505 ; - skos:exactMatch HGNC_symbol:DHX29 ; + skos:exactMatch UMLS:C1423751, + HGNC:15815, + HGNC_symbol:DHX29 ; biolink:category biolink:Gene . OMIM:612721 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:17951542 ; - oboInOwl:hasDbXref UMLS:C2681920 ; oboInOwl:hasExactSynonym "regulated endocrine-specific protein 18", "resp18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389075 ; - skos:exactMatch HGNC_symbol:RESP18 ; + skos:exactMatch UMLS:C2681920, + HGNC:33762, + HGNC_symbol:RESP18 ; biolink:category biolink:Gene . OMIM:612722 a owl:Class ; @@ -307665,26 +320227,28 @@ OMIM:612722 a owl:Class ; PMID:20054296, PMID:22854966, PMID:29925953 ; - oboInOwl:hasDbXref UMLS:C1427083 ; oboInOwl:hasExactSynonym "ELP3", "elongation protein 3, s. cerevisiae, homolog of", "elongator acetyltransferase complex, subunit 3", "kat9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55140 ; - skos:exactMatch HGNC_symbol:ELP3 ; + skos:exactMatch UMLS:C1427083, + HGNC:20696, + HGNC_symbol:ELP3 ; biolink:category biolink:Gene . OMIM:612723 a owl:Class ; rdfs:label "PLEKHH2" ; IAO:0000142 PMID:17251388, PMID:18752002 ; - oboInOwl:hasDbXref UMLS:C1538676 ; oboInOwl:hasExactSynonym "PLEKHH2", "pleckstrin homology domain-containing protein, family h, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130271 ; - skos:exactMatch HGNC_symbol:PLEKHH2 ; + skos:exactMatch UMLS:C1538676, + HGNC:30506, + HGNC_symbol:PLEKHH2 ; biolink:category biolink:Gene . OMIM:612724 a owl:Class ; @@ -307723,8 +320287,6 @@ OMIM:612724 a owl:Class ; PMID:9610797 ; RO:0002525 CHR:9606chr9q31.1 ; RO:0003303 OMIM:229600 ; - oboInOwl:hasDbXref UMLS:C0016751, - UMLS:C1412347 ; oboInOwl:hasExactSynonym "ALDOB", "aldolase 2", "aldolase B", @@ -307732,7 +320294,10 @@ OMIM:612724 a owl:Class ; "fructose-1,6-bisphosphate aldolase B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:229 ; - skos:exactMatch HGNC_symbol:ALDOB ; + skos:exactMatch UMLS:C0016751, + UMLS:C1412347, + HGNC:417, + HGNC_symbol:ALDOB ; biolink:category biolink:Gene . OMIM:612726 a owl:Class ; @@ -307742,8 +320307,8 @@ OMIM:612726 a owl:Class ; PMID:18792981, PMID:9286458 ; IAO:0100001 OMIM:301068 ; - oboInOwl:hasDbXref UMLS:C0795969 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C0795969 . OMIM:612730 a owl:Class ; rdfs:label "SLC9A8" ; @@ -307753,21 +320318,22 @@ OMIM:612730 a owl:Class ; PMID:20719963, PMID:25472965, PMID:25736793 ; - oboInOwl:hasDbXref UMLS:C1427100 ; oboInOwl:hasExactSynonym "SLC9A8", "kiaa0939", "sodium/hydrogen exchanger 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23315 ; - skos:exactMatch HGNC_symbol:SLC9A8 ; + skos:exactMatch UMLS:C1427100, + HGNC:20728, + HGNC_symbol:SLC9A8 ; biolink:category biolink:Gene . OMIM:612731 a owl:Class ; rdfs:label "faciocardiomelic syndrome" ; IAO:0000142 PMID:17159509 ; - oboInOwl:hasDbXref UMLS:C2674798 ; oboInOwl:hasExactSynonym "faciocardiomelic syndrome" ; + skos:exactMatch UMLS:C2674798 ; biolink:category biolink:Disease . OMIM:612732 a owl:Class ; @@ -307794,17 +320360,18 @@ OMIM:612732 a owl:Class ; PMID:9888388 ; RO:0002525 CHR:9606chr3q11.2 ; RO:0003303 OMIM:618892 ; - oboInOwl:hasDbXref UMLS:C0342856, - UMLS:C0342859, - UMLS:C1413681, - UMLS:C4017281 ; oboInOwl:hasExactSynonym "CPOX", "coproporphyrinogen oxidase", "cpo", "cpx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1371 ; - skos:exactMatch HGNC_symbol:CPOX ; + skos:exactMatch UMLS:C0342856, + UMLS:C0342859, + UMLS:C1413681, + UMLS:C4017281, + HGNC:2321, + HGNC_symbol:CPOX ; biolink:category biolink:Gene . OMIM:612733 a owl:Class ; @@ -307814,7 +320381,6 @@ OMIM:612733 a owl:Class ; PMID:18373705, PMID:19015024, PMID:8242058 ; - oboInOwl:hasDbXref UMLS:C1425991 ; oboInOwl:hasExactSynonym "THOC5", "fms-interacting protein", "fsap79", @@ -307822,19 +320388,22 @@ OMIM:612733 a owl:Class ; "tho complex, subunit 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8563 ; - skos:exactMatch HGNC_symbol:THOC5 ; + skos:exactMatch UMLS:C1425991, + HGNC:19074, + HGNC_symbol:THOC5 ; biolink:category biolink:Gene . OMIM:612734 a owl:Class ; rdfs:label "TLX1NB" ; IAO:0000142 PMID:17303350 ; - oboInOwl:hasDbXref UMLS:C2674784 ; oboInOwl:hasExactSynonym "TLX1NB", "tlx1 divergent gene", "tlx1 neighbor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100038246 ; - skos:exactMatch HGNC_symbol:TLX1NB ; + skos:exactMatch UMLS:C2674784, + HGNC:37183, + HGNC_symbol:TLX1NB ; biolink:category biolink:Gene . OMIM:612735 a owl:Class ; @@ -307842,44 +320411,46 @@ OMIM:612735 a owl:Class ; IAO:0000142 PMID:10902611, PMID:11567627, PMID:18697946 ; - oboInOwl:hasDbXref UMLS:C1415578 ; oboInOwl:hasExactSynonym "HLA-DRB3", "hla-dr52", "major histocompatibility complex, class ii, dr beta-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3125 ; - skos:exactMatch HGNC_symbol:HLA-DRB3 ; + skos:exactMatch UMLS:C1415578, + HGNC:4951, + HGNC_symbol:HLA-DRB3 ; biolink:category biolink:Gene . OMIM:612738 a owl:Class ; rdfs:label "SLC9A10" ; IAO:0000142 PMID:14634667 ; - oboInOwl:hasDbXref UMLS:C1539778 ; oboInOwl:hasExactSynonym "SLC9A10", "solute carrier family 9, member 10", "sperm-specific sodium proton exchanger" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285335 ; - skos:exactMatch HGNC_symbol:SLC9C1 ; + skos:exactMatch UMLS:C1539778, + HGNC:31401, + HGNC_symbol:SLC9C1 ; biolink:category biolink:Gene . OMIM:612739 a owl:Class ; rdfs:label "SPACA1" ; IAO:0000142 PMID:11870081, PMID:22949614 ; - oboInOwl:hasDbXref UMLS:C1423094 ; oboInOwl:hasExactSynonym "SPACA1", "sperm acrosome membrane-associated protein 32", "sperm acrosome-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81833 ; - skos:exactMatch HGNC_symbol:SPACA1 ; + skos:exactMatch UMLS:C1423094, + HGNC:14967, + HGNC_symbol:SPACA1 ; biolink:category biolink:Gene . OMIM:612741 a owl:Class ; rdfs:label "SNAI3" ; IAO:0000142 PMID:12579345 ; - oboInOwl:hasDbXref UMLS:C1425507 ; oboInOwl:hasExactSynonym "SNAI3", "smuc", "snail family transcriptional repressor 3", @@ -307887,7 +320458,9 @@ OMIM:612741 a owl:Class ; "zfp293" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:333929 ; - skos:exactMatch HGNC_symbol:SNAI3 ; + skos:exactMatch UMLS:C1425507, + HGNC:18411, + HGNC_symbol:SNAI3 ; biolink:category biolink:Gene . OMIM:612742 a owl:Class ; @@ -307896,7 +320469,6 @@ OMIM:612742 a owl:Class ; PMID:19273599, PMID:20558617, PMID:23623381 ; - oboInOwl:hasDbXref UMLS:C1826004 ; oboInOwl:hasExactSynonym "MIR181A1", "micro RNA 181a1", "mir213", @@ -307904,7 +320476,9 @@ OMIM:612742 a owl:Class ; "mirna181a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406995 ; - skos:exactMatch HGNC_symbol:MIR181A1 ; + skos:exactMatch UMLS:C1826004, + HGNC:31590, + HGNC_symbol:MIR181A1 ; biolink:category biolink:Gene . OMIM:612743 a owl:Class ; @@ -307912,54 +320486,58 @@ OMIM:612743 a owl:Class ; IAO:0000142 PMID:16039986, PMID:19273599, PMID:20558617 ; - oboInOwl:hasDbXref UMLS:C1826005 ; oboInOwl:hasExactSynonym "MIR181A2", "micro RNA 181a2", "mirn181a2", "mirna181a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406954 ; - skos:exactMatch HGNC_symbol:MIR181A2 ; + skos:exactMatch UMLS:C1826005, + HGNC:31549, + HGNC_symbol:MIR181A2 ; biolink:category biolink:Gene . OMIM:612744 a owl:Class ; rdfs:label "MIR181B1" ; IAO:0000142 PMID:16039986, PMID:23623381 ; - oboInOwl:hasDbXref UMLS:C1537813 ; oboInOwl:hasExactSynonym "MIR181B1", "micro RNA 181b1", "mirn181b1", "mirna181b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406955 ; - skos:exactMatch HGNC_symbol:MIR181B1 ; + skos:exactMatch UMLS:C1537813, + HGNC:31550, + HGNC_symbol:MIR181B1 ; biolink:category biolink:Gene . OMIM:612745 a owl:Class ; rdfs:label "MIR181B2" ; IAO:0000142 PMID:16039986 ; - oboInOwl:hasDbXref UMLS:C1537814 ; oboInOwl:hasExactSynonym "MIR181B2", "micro RNA 181b2", "mirn181b2", "mirna181b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406956 ; - skos:exactMatch HGNC_symbol:MIR181B2 ; + skos:exactMatch UMLS:C1537814, + HGNC:31551, + HGNC_symbol:MIR181B2 ; biolink:category biolink:Gene . OMIM:612746 a owl:Class ; rdfs:label "MIR181C" ; IAO:0000142 PMID:16039986 ; - oboInOwl:hasDbXref UMLS:C1537815 ; oboInOwl:hasExactSynonym "MIR181C", "micro RNA 181c", "mirn181c", "mirna181c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406957 ; - skos:exactMatch HGNC_symbol:MIR181C ; + skos:exactMatch UMLS:C1537815, + HGNC:31552, + HGNC_symbol:MIR181C ; biolink:category biolink:Gene . OMIM:612747 a owl:Class ; @@ -307967,33 +320545,34 @@ OMIM:612747 a owl:Class ; IAO:0000142 PMID:10806191, PMID:15868102, PMID:18367544 ; - oboInOwl:hasDbXref UMLS:C1424789 ; oboInOwl:hasExactSynonym "TFIP11", "ntr1, s. cerevisiae, homolog of", "tuftelin-interacting protein 11", "tuftelin-interacting protein, 39-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24144 ; - skos:exactMatch HGNC_symbol:TFIP11 ; + skos:exactMatch UMLS:C1424789, + HGNC:17165, + HGNC_symbol:TFIP11 ; biolink:category biolink:Gene . OMIM:612748 a owl:Class ; rdfs:label "LYZL2" ; IAO:0000142 PMID:16014814 ; - oboInOwl:hasDbXref UMLS:C1537632 ; oboInOwl:hasExactSynonym "LYZL2", "lysozyme 2", "lysozyme-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119180 ; - skos:exactMatch HGNC_symbol:LYZL2 ; + skos:exactMatch UMLS:C1537632, + HGNC:29613, + HGNC_symbol:LYZL2 ; biolink:category biolink:Gene . OMIM:612749 a owl:Class ; rdfs:label "SPACA3" ; IAO:0000142 PMID:12606493, PMID:16014814 ; - oboInOwl:hasDbXref UMLS:C1424133 ; oboInOwl:hasExactSynonym "SPACA3", "allp17", "lyc3", @@ -308002,29 +320581,33 @@ OMIM:612749 a owl:Class ; "sperm lysozyme-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124912 ; - skos:exactMatch HGNC_symbol:SPACA3 ; + skos:exactMatch UMLS:C1424133, + HGNC:16260, + HGNC_symbol:SPACA3 ; biolink:category biolink:Gene . OMIM:612750 a owl:Class ; rdfs:label "LYZL4" ; IAO:0000142 PMID:16014814 ; - oboInOwl:hasDbXref UMLS:C1537633 ; oboInOwl:hasExactSynonym "LYZL4", "lysozyme-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131375 ; - skos:exactMatch HGNC_symbol:LYZL4 ; + skos:exactMatch UMLS:C1537633, + HGNC:28387, + HGNC_symbol:LYZL4 ; biolink:category biolink:Gene . OMIM:612751 a owl:Class ; rdfs:label "LYZL6" ; IAO:0000142 PMID:16014814 ; - oboInOwl:hasDbXref UMLS:C1537634 ; oboInOwl:hasExactSynonym "LYZL6", "lysozyme-like 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57151 ; - skos:exactMatch HGNC_symbol:LYZL6 ; + skos:exactMatch UMLS:C1537634, + HGNC:29614, + HGNC_symbol:LYZL6 ; biolink:category biolink:Gene . OMIM:612752 a owl:Class ; @@ -308032,13 +320615,14 @@ OMIM:612752 a owl:Class ; IAO:0000142 PMID:19001364, PMID:19182210, PMID:23303788 ; - oboInOwl:hasDbXref UMLS:C1428636 ; oboInOwl:hasExactSynonym "CXXC5", "cxxc finger protein 5", "retinoid-inducible nuclear factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51523 ; - skos:exactMatch HGNC_symbol:CXXC5 ; + skos:exactMatch UMLS:C1428636, + HGNC:26943, + HGNC_symbol:CXXC5 ; biolink:category biolink:Gene . OMIM:612753 a owl:Class ; @@ -308049,13 +320633,14 @@ OMIM:612753 a owl:Class ; PMID:19935664 ; RO:0002525 CHR:9606chr18q21.32 ; RO:0003303 OMIM:235510 ; - oboInOwl:hasDbXref UMLS:C1539067 ; oboInOwl:hasExactSynonym "CCBE1", "collagen and calcium-binding egf domain-containing protein 1", "kiaa1983" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147372 ; - skos:exactMatch HGNC_symbol:CCBE1 ; + skos:exactMatch UMLS:C1539067, + HGNC:29426, + HGNC_symbol:CCBE1 ; biolink:category biolink:Gene . OMIM:612754 a owl:Class ; @@ -308063,39 +320648,42 @@ OMIM:612754 a owl:Class ; IAO:0000142 PMID:10636891, PMID:18258855, PMID:23615448 ; - oboInOwl:hasDbXref UMLS:C1423888 ; oboInOwl:hasExactSynonym "GLRX3", "glutaredoxin 3", "grx3", "protein kinase c-interacting cousin of thioredoxin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10539 ; - skos:exactMatch HGNC_symbol:GLRX3 ; + skos:exactMatch UMLS:C1423888, + HGNC:15987, + HGNC_symbol:GLRX3 ; biolink:category biolink:Gene . OMIM:612755 a owl:Class ; rdfs:label "NAA25" ; IAO:0000142 PMID:18570629 ; - oboInOwl:hasDbXref UMLS:C1824351 ; oboInOwl:hasExactSynonym "NAA25", "chromosome 12 open reading frame 30", "mitochondrial distribution and morphology 20, yeast, homolog of", "n-alpha-acetyltransferase 25, natb auxiliary subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80018 ; - skos:exactMatch HGNC_symbol:NAA25 ; + skos:exactMatch UMLS:C1824351, + HGNC:25783, + HGNC_symbol:NAA25 ; biolink:category biolink:Gene . OMIM:612756 a owl:Class ; rdfs:label "TCAM1" ; IAO:0000142 PMID:11195349, PMID:9889334 ; - oboInOwl:hasDbXref UMLS:C1823252 ; oboInOwl:hasExactSynonym "TCAM1", "testicular cell adhesion molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146771 ; - skos:exactMatch HGNC_symbol:TCAM1P ; + skos:exactMatch UMLS:C1823252, + HGNC:30707, + HGNC_symbol:TCAM1P ; biolink:category biolink:Gene . OMIM:612757 a owl:Class ; @@ -308114,12 +320702,13 @@ OMIM:612757 a owl:Class ; PMID:24847059 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:615947 ; - oboInOwl:hasDbXref UMLS:C2239507 ; oboInOwl:hasExactSynonym "GPIHBP1", "glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338328 ; - skos:exactMatch HGNC_symbol:GPIHBP1 ; + skos:exactMatch UMLS:C2239507, + HGNC:24945, + HGNC_symbol:GPIHBP1 ; biolink:category biolink:Gene . OMIM:612758 a owl:Class ; @@ -308130,13 +320719,14 @@ OMIM:612758 a owl:Class ; PMID:8605045 ; RO:0002525 CHR:9606chr4p15.32 ; RO:0003303 OMIM:616897 ; - oboInOwl:hasDbXref UMLS:C2240065 ; oboInOwl:hasExactSynonym "TAPT1", "cytomegalovirus gh fusion receptor", "transmembrane anterior posterior transformation 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:202018 ; - skos:exactMatch HGNC_symbol:TAPT1 ; + skos:exactMatch UMLS:C2240065, + HGNC:26887, + HGNC_symbol:TAPT1 ; biolink:category biolink:Gene . OMIM:612760 a owl:Class ; @@ -308146,14 +320736,15 @@ OMIM:612760 a owl:Class ; PMID:18723694, PMID:18927432, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1539800 ; oboInOwl:hasExactSynonym "SNRK", "kiaa0096", "snf-related kinase", "snf1-related kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54861 ; - skos:exactMatch HGNC_symbol:SNRK ; + skos:exactMatch UMLS:C1539800, + HGNC:30598, + HGNC_symbol:SNRK ; biolink:category biolink:Gene . OMIM:612761 a owl:Class ; @@ -308176,10 +320767,6 @@ OMIM:612761 a owl:Class ; PMID:8731679 ; RO:0002525 CHR:9606chr4q22.3 ; RO:0003303 OMIM:181600 ; - oboInOwl:hasDbXref UMLS:C0406707, - UMLS:C0406767, - UMLS:C1425496, - UMLS:C1852150 ; oboInOwl:hasExactSynonym "SMARCAD1", "enhancer trap locus 1, mouse, homolog of", "human helicase 1", @@ -308187,7 +320774,12 @@ OMIM:612761 a owl:Class ; "swi/snf-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, dead/h box-containing, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56916 ; - skos:exactMatch HGNC_symbol:SMARCAD1 ; + skos:exactMatch UMLS:C0406707, + UMLS:C0406767, + UMLS:C1425496, + UMLS:C1852150, + HGNC:18398, + HGNC_symbol:SMARCAD1 ; biolink:category biolink:Gene . OMIM:612762 a owl:Class ; @@ -308195,7 +320787,6 @@ OMIM:612762 a owl:Class ; IAO:0000142 PMID:11564863, PMID:17967894, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1823153 ; oboInOwl:hasExactSynonym "SUPT7L", "kiaa0764", "spt7l", @@ -308206,41 +320797,44 @@ OMIM:612762 a owl:Class ; "suppressor of ty 7-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9913 ; - skos:exactMatch HGNC_symbol:SUPT7L ; + skos:exactMatch UMLS:C1823153, + HGNC:30632, + HGNC_symbol:SUPT7L ; biolink:category biolink:Gene . OMIM:612763 a owl:Class ; rdfs:label "TADA1L" ; IAO:0000142 PMID:11564863 ; - oboInOwl:hasDbXref UMLS:C1823168 ; oboInOwl:hasExactSynonym "TADA1L", "hfi1/ada1, yeast, homolog of", "spt3-associated factor 42", "transcriptional adaptor 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117143 ; - skos:exactMatch HGNC_symbol:TADA1 ; + skos:exactMatch UMLS:C1823168, + HGNC:30631, + HGNC_symbol:TADA1 ; biolink:category biolink:Gene . OMIM:612764 a owl:Class ; rdfs:label "ISY1" ; IAO:0000142 PMID:10574461, PMID:16103217 ; - oboInOwl:hasDbXref UMLS:C2239552 ; oboInOwl:hasExactSynonym "ISY1", "isy1 splicing factor homolog", "isy1 splicing factor, s. cerevisiae, homolog of", "kiaa1160" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57461 ; - skos:exactMatch HGNC_symbol:ISY1 ; + skos:exactMatch UMLS:C2239552, + HGNC:29201, + HGNC_symbol:ISY1 ; biolink:category biolink:Gene . OMIM:612765 a owl:Class ; rdfs:label "SFI1" ; IAO:0000142 PMID:14504268, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1539759 ; oboInOwl:hasExactSynonym "SFI1", "kiaa0542", "sfi1 centrin-binding protein", @@ -308248,7 +320842,9 @@ OMIM:612765 a owl:Class ; "spindle assembly-associated protein sfi1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9814 ; - skos:exactMatch HGNC_symbol:SFI1 ; + skos:exactMatch UMLS:C1539759, + HGNC:29064, + HGNC_symbol:SFI1 ; biolink:category biolink:Gene . OMIM:612766 a owl:Class ; @@ -308256,7 +320852,6 @@ OMIM:612766 a owl:Class ; IAO:0000142 PMID:19261746, PMID:19261748, PMID:19261749 ; - oboInOwl:hasDbXref UMLS:C2240326 ; oboInOwl:hasExactSynonym "BABAM1", "brisc and brca1 a complex, member 1", "chromosome 19 open reading frame 62", @@ -308264,7 +320859,9 @@ OMIM:612766 a owl:Class ; "new component of brca1 a complex 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29086 ; - skos:exactMatch HGNC_symbol:BABAM1 ; + skos:exactMatch UMLS:C2240326, + HGNC:25008, + HGNC_symbol:BABAM1 ; biolink:category biolink:Gene . OMIM:612767 a owl:Class ; @@ -308274,7 +320871,6 @@ OMIM:612767 a owl:Class ; PMID:18842585, PMID:21703541, PMID:29899445 ; - oboInOwl:hasDbXref UMLS:C1422629 ; oboInOwl:hasExactSynonym "DHX36", "RNA helicase associated with au-rich elements", "deah-box helicase 36", @@ -308283,7 +320879,9 @@ OMIM:612767 a owl:Class ; "kiaa1488" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170506 ; - skos:exactMatch HGNC_symbol:DHX36 ; + skos:exactMatch UMLS:C1422629, + HGNC:14410, + HGNC_symbol:DHX36 ; biolink:category biolink:Gene . OMIM:612768 a owl:Class ; @@ -308292,7 +320890,6 @@ OMIM:612768 a owl:Class ; PMID:18403135, PMID:18663353, PMID:19137017 ; - oboInOwl:hasDbXref UMLS:C2239457 ; oboInOwl:hasExactSynonym "FNIP2", "fnip1-like protein", "folliculin-interacting protein 2", @@ -308300,7 +320897,9 @@ OMIM:612768 a owl:Class ; "methylguanine-induced apoptosis 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57600 ; - skos:exactMatch HGNC_symbol:FNIP2 ; + skos:exactMatch UMLS:C2239457, + HGNC:29280, + HGNC_symbol:FNIP2 ; biolink:category biolink:Gene . OMIM:612769 a owl:Class ; @@ -308311,14 +320910,15 @@ OMIM:612769 a owl:Class ; PMID:30139920, PMID:30239724, PMID:30638953 ; - oboInOwl:hasDbXref UMLS:C2681866 ; oboInOwl:hasExactSynonym "NEAT1", "noncoding RNA 84", "noncoding nuclear-enriched abundant transcript 1", "trophoblast-derived noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283131 ; - skos:exactMatch HGNC_symbol:NEAT1 ; + skos:exactMatch UMLS:C2681866, + HGNC:30815, + HGNC_symbol:NEAT1 ; biolink:category biolink:Gene . OMIM:612770 a owl:Class ; @@ -308335,27 +320935,29 @@ OMIM:612770 a owl:Class ; PMID:3561949 ; RO:0002525 CHR:9606chr22q12.2 ; RO:0003303 OMIM:618889 ; - oboInOwl:hasDbXref UMLS:C1418591, - UMLS:C5394404 ; oboInOwl:hasExactSynonym "PISD", "phosphatidylserine decarboxylase", "psd", "pssc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23761 ; - skos:exactMatch HGNC_symbol:PISD ; + skos:exactMatch UMLS:C1418591, + UMLS:C5394404, + HGNC:8999, + HGNC_symbol:PISD ; biolink:category biolink:Gene . OMIM:612771 a owl:Class ; rdfs:label "DUOXA1" ; IAO:0000142 PMID:14670962, PMID:16651268 ; - oboInOwl:hasDbXref UMLS:C1824986 ; oboInOwl:hasExactSynonym "DUOXA1", "dual oxidase maturation factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90527 ; - skos:exactMatch HGNC_symbol:DUOXA1 ; + skos:exactMatch UMLS:C1824986, + HGNC:26507, + HGNC_symbol:DUOXA1 ; biolink:category biolink:Gene . OMIM:612772 a owl:Class ; @@ -308364,12 +320966,13 @@ OMIM:612772 a owl:Class ; PMID:18042646 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:274900 ; - oboInOwl:hasDbXref UMLS:C1824987 ; oboInOwl:hasExactSynonym "DUOXA2", "dual oxidase maturation factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:405753 ; - skos:exactMatch HGNC_symbol:DUOXA2 ; + skos:exactMatch UMLS:C1824987, + HGNC:32698, + HGNC_symbol:DUOXA2 ; biolink:category biolink:Gene . OMIM:612773 a owl:Class ; @@ -308394,7 +320997,6 @@ OMIM:612773 a owl:Class ; PMID:9192786 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:111200 ; - oboInOwl:hasDbXref UMLS:C1826415 ; oboInOwl:hasExactSynonym "BCAM", "b-cell adhesion molecule", "basal cell adhesion molecule", @@ -308402,7 +321004,9 @@ OMIM:612773 a owl:Class ; "msk19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4059 ; - skos:exactMatch HGNC_symbol:BCAM ; + skos:exactMatch UMLS:C1826415, + HGNC:6722, + HGNC_symbol:BCAM ; biolink:category biolink:Gene . OMIM:612774 a owl:Class ; @@ -308410,14 +321014,15 @@ OMIM:612774 a owl:Class ; IAO:0000142 PMID:12584440, PMID:19628819, PMID:20534469 ; - oboInOwl:hasDbXref UMLS:C1425847 ; oboInOwl:hasExactSynonym "TAS2R46", "t2r46", "t2r54", "taste receptor, iia 2, member 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259292 ; - skos:exactMatch HGNC_symbol:TAS2R46 ; + skos:exactMatch UMLS:C1425847, + HGNC:18877, + HGNC_symbol:TAS2R46 ; biolink:category biolink:Gene . OMIM:612776 a owl:Class ; @@ -308429,17 +321034,17 @@ OMIM:612776 a owl:Class ; PMID:6809915, PMID:8436470, PMID:9142661 ; - oboInOwl:hasDbXref UMLS:C2748587, - UMLS:C2748588 ; oboInOwl:hasExactSynonym "hypoglossia with situs inversus", "hypoglossia, isolated" ; + skos:exactMatch UMLS:C2748587, + UMLS:C2748588 ; biolink:category biolink:Disease . OMIM:612777 a owl:Class ; rdfs:label "hypotonia, seizures, and precocious puberty" ; IAO:0000142 PMID:18541960 ; - oboInOwl:hasDbXref UMLS:C2748586 ; - oboInOwl:hasExactSynonym "hypotonia, seizures, and precocious puberty" . + oboInOwl:hasExactSynonym "hypotonia, seizures, and precocious puberty" ; + skos:exactMatch UMLS:C2748586 . OMIM:612778 a owl:Class ; rdfs:label "SETD2" ; @@ -308457,7 +321062,6 @@ OMIM:612778 a owl:Class ; PMID:9700202 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:616831 ; - oboInOwl:hasDbXref UMLS:C1822686 ; oboInOwl:hasExactSynonym "SETD2", "huntingtin-binding protein, 231-kd", "huntingtin-interacting protein B", @@ -308466,7 +321070,9 @@ OMIM:612778 a owl:Class ; "set2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29072 ; - skos:exactMatch HGNC_symbol:SETD2 ; + skos:exactMatch UMLS:C1822686, + HGNC:18420, + HGNC_symbol:SETD2 ; biolink:category biolink:Gene . OMIM:612779 a owl:Class ; @@ -308492,13 +321098,14 @@ OMIM:612779 a owl:Class ; PMID:9918128 ; RO:0002525 CHR:9606chr1p21.3 ; RO:0003303 OMIM:274270 ; - oboInOwl:hasDbXref UMLS:C1366555 ; oboInOwl:hasExactSynonym "DPYD", "dihydropyrimidine dehydrogenase", "dpd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1806 ; - skos:exactMatch HGNC_symbol:DPYD ; + skos:exactMatch UMLS:C1366555, + HGNC:3012, + HGNC_symbol:DPYD ; biolink:category biolink:Gene . OMIM:612781 a owl:Class ; @@ -308510,11 +321117,11 @@ OMIM:612781 a owl:Class ; PMID:6134983, PMID:8288694, PMID:8496314 ; - oboInOwl:hasDbXref UMLS:C2748571 ; oboInOwl:hasExactSynonym "IGHD1B", "ighd 1b", "isolated growth hormone deficiency, iia 1b" ; rdfs:subClassOf OMIMPS:262400 ; + skos:exactMatch UMLS:C2748571 ; biolink:category biolink:Disease . OMIM:612782 a owl:Class ; @@ -308526,11 +321133,11 @@ OMIM:612782 a owl:Class ; PMID:7798233, PMID:8167687, PMID:8814256 ; - oboInOwl:hasDbXref UMLS:C2748568 ; oboInOwl:hasExactSynonym "IMD9", "immune dysfunction with t-cell inactivation due to calcium entry defect 1", "immunodeficiency 9" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C2748568 ; biolink:category biolink:Disease . OMIM:612783 a owl:Class ; @@ -308542,38 +321149,38 @@ OMIM:612783 a owl:Class ; PMID:24621671, PMID:26560041, PMID:8921403 ; - oboInOwl:hasDbXref UMLS:C2748557 ; oboInOwl:hasExactSynonym "IMD10", "immune dysfunction with t-cell inactivation due to calcium entry defect 2", "immunodeficiency 10", "stim1 deficiency" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C2748557 ; biolink:category biolink:Disease . OMIM:612784 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:17947297, PMID:9700202 ; - oboInOwl:hasDbXref UMLS:C2748556 ; oboInOwl:hasExactSynonym "huntingtin yeast 2-hybrid protein k", "huntingtin-interacting protein k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25764 ; - skos:exactMatch HGNC_symbol:HYPK ; + skos:exactMatch UMLS:C2748556, + HGNC:18418, + HGNC_symbol:HYPK ; biolink:category biolink:Gene . OMIM:612785 a owl:Class ; rdfs:label "megarbane-jalkh syndrome" ; IAO:0000142 PMID:19012336 ; - oboInOwl:hasDbXref UMLS:C2748555 ; oboInOwl:hasExactSynonym "developmental delay, dysmorphic facial features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure", - "megarbane-jalkh syndrome" . + "megarbane-jalkh syndrome" ; + skos:exactMatch UMLS:C2748555 . OMIM:612786 a owl:Class ; rdfs:label "CCNY" ; IAO:0000142 PMID:15164054, PMID:18060517 ; - oboInOwl:hasDbXref UMLS:C1428045 ; oboInOwl:hasExactSynonym "CCNY", "chromosome 10 open reading frame 9", "cyclin 10", @@ -308581,21 +321188,24 @@ OMIM:612786 a owl:Class ; "cyclin-fold protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219771 ; - skos:exactMatch HGNC_symbol:CCNY ; + skos:exactMatch UMLS:C1428045, + HGNC:23354, + HGNC_symbol:CCNY ; biolink:category biolink:Gene . OMIM:612787 a owl:Class ; rdfs:label "PUS10" ; IAO:0000142 PMID:14527409, PMID:17900615 ; - oboInOwl:hasDbXref UMLS:C2239865 ; oboInOwl:hasExactSynonym "PUS10", "downstream of bid", "pseudouridine synthase 10", "pseudouridylate synthase 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150962 ; - skos:exactMatch HGNC_symbol:PUS10 ; + skos:exactMatch UMLS:C2239865, + HGNC:26505, + HGNC_symbol:PUS10 ; biolink:category biolink:Gene . OMIM:612788 a owl:Class ; @@ -308603,13 +321213,14 @@ OMIM:612788 a owl:Class ; IAO:0000142 PMID:11309849, PMID:11747606, PMID:16835220 ; - oboInOwl:hasDbXref UMLS:C1427203 ; oboInOwl:hasExactSynonym "FOXQ1", "forkhead box q1", "hfh1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94234 ; - skos:exactMatch HGNC_symbol:FOXQ1 ; + skos:exactMatch UMLS:C1427203, + HGNC:20951, + HGNC_symbol:FOXQ1 ; biolink:category biolink:Gene . OMIM:612790 a owl:Class ; @@ -308619,7 +321230,6 @@ OMIM:612790 a owl:Class ; PMID:12056414, PMID:16236762, PMID:9199174 ; - oboInOwl:hasDbXref UMLS:C2748553 ; oboInOwl:hasExactSynonym "ARHGEF28", "guanine nucleotide exchange factor, 190-kd", "kiaa1998", @@ -308630,7 +321240,9 @@ OMIM:612790 a owl:Class ; "rhogef" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64283 ; - skos:exactMatch HGNC_symbol:ARHGEF28 ; + skos:exactMatch UMLS:C2748553, + HGNC:30322, + HGNC_symbol:ARHGEF28 ; biolink:category biolink:Gene . OMIM:612791 a owl:Class ; @@ -308638,13 +321250,14 @@ OMIM:612791 a owl:Class ; IAO:0000142 PMID:15031282, PMID:18519692, PMID:18940803 ; - oboInOwl:hasDbXref UMLS:C1422236 ; oboInOwl:hasExactSynonym "ZKSCAN3", "zinc finger protein 306", "zinc finger protein with krab and scan domains 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80317 ; - skos:exactMatch HGNC_symbol:ZKSCAN3 ; + skos:exactMatch UMLS:C1422236, + HGNC:13853, + HGNC_symbol:ZKSCAN3 ; biolink:category biolink:Gene . OMIM:612792 a owl:Class ; @@ -308661,14 +321274,15 @@ OMIM:612792 a owl:Class ; PMID:7584026 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:151050 ; - oboInOwl:hasDbXref UMLS:C1419056 ; oboInOwl:hasExactSynonym "PTDSS1", "kiaa0024", "phosphatidylserine synthase 1", "pss1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9791 ; - skos:exactMatch HGNC_symbol:PTDSS1 ; + skos:exactMatch UMLS:C1419056, + HGNC:9587, + HGNC_symbol:PTDSS1 ; biolink:category biolink:Gene . OMIM:612793 a owl:Class ; @@ -308679,22 +321293,23 @@ OMIM:612793 a owl:Class ; PMID:14984733, PMID:18343815, PMID:19014349 ; - oboInOwl:hasDbXref UMLS:C1456391 ; oboInOwl:hasExactSynonym "PTDSS2", "phosphatidylserine synthase 2", "pss2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81490 ; - skos:exactMatch HGNC_symbol:PTDSS2 ; + skos:exactMatch UMLS:C1456391, + HGNC:15463, + HGNC_symbol:PTDSS2 ; biolink:category biolink:Gene . OMIM:612794 a owl:Class ; rdfs:label "atrial septal defect 5" ; IAO:0000142 PMID:17947298 ; - oboInOwl:hasDbXref UMLS:C2748552 ; oboInOwl:hasExactSynonym "ASD5", "atrial septal defect 5" ; rdfs:subClassOf OMIMPS:108800 ; + skos:exactMatch UMLS:C2748552 ; biolink:category biolink:Disease . OMIM:612797 a owl:Class ; @@ -308705,9 +321320,9 @@ OMIM:612797 a owl:Class ; PMID:18364377, PMID:19060911, PMID:20686565 ; - oboInOwl:hasDbXref UMLS:C2675071 ; oboInOwl:hasExactSynonym "HDLCQ12", "high density lipoprotein cholesterol level quantitative trait locus 12" ; + skos:exactMatch UMLS:C2675071 ; biolink:category biolink:Disease . OMIM:612798 a owl:Class ; @@ -308719,12 +321334,12 @@ OMIM:612798 a owl:Class ; PMID:6709737, PMID:6823486, PMID:9703081 ; - oboInOwl:hasDbXref UMLS:C2748545 ; oboInOwl:hasExactSynonym "QME", "auricular cleft, congenital", "cosman deformity of the auricle", "ears, prominent and constricted", "question mark ears, isolated" ; + skos:exactMatch UMLS:C2748545 ; biolink:category biolink:Disease . OMIM:612799 a owl:Class ; @@ -308737,8 +321352,6 @@ OMIM:612799 a owl:Class ; PMID:23008233 ; RO:0002525 CHR:9606chr16p12.2 ; RO:0003303 OMIM:614924 ; - oboInOwl:hasDbXref UMLS:C1825021, - UMLS:C3554079 ; oboInOwl:hasExactSynonym "EARS2", "glutamyl-trna synthetase 2, mitochondrial", "glutamyl-trna synthetase, mitochondrial", @@ -308746,7 +321359,10 @@ OMIM:612799 a owl:Class ; "mitochondrial glurs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124454 ; - skos:exactMatch HGNC_symbol:EARS2 ; + skos:exactMatch UMLS:C1825021, + UMLS:C3554079, + HGNC:29419, + HGNC_symbol:EARS2 ; biolink:category biolink:Gene . OMIM:612800 a owl:Class ; @@ -308756,14 +321372,15 @@ OMIM:612800 a owl:Class ; PMID:25787132 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:616672 ; - oboInOwl:hasDbXref UMLS:C2240335 ; oboInOwl:hasExactSynonym "CARS2", "cysteinyl-trna synthetase 2", "cysteinyl-trna synthetase, mitochondrial", "mitochondrial cysrs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79587 ; - skos:exactMatch HGNC_symbol:CARS2 ; + skos:exactMatch UMLS:C2240335, + HGNC:25695, + HGNC_symbol:CARS2 ; biolink:category biolink:Gene . OMIM:612801 a owl:Class ; @@ -308776,14 +321393,15 @@ OMIM:612801 a owl:Class ; PMID:8409271 ; RO:0002525 CHR:9606chr1q41 ; RO:0003303 OMIM:616007 ; - oboInOwl:hasDbXref UMLS:C1825559 ; oboInOwl:hasExactSynonym "IARS2", "isoleucyl-trna synthetase 2", "isoleucyl-trna synthetase, mitochondrial", "mitochondrial ilers" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55699 ; - skos:exactMatch HGNC_symbol:IARS2 ; + skos:exactMatch UMLS:C1825559, + HGNC:29685, + HGNC_symbol:IARS2 ; biolink:category biolink:Gene . OMIM:612802 a owl:Class ; @@ -308797,8 +321415,6 @@ OMIM:612802 a owl:Class ; PMID:31064326 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:615917 ; - oboInOwl:hasDbXref UMLS:C1823614, - UMLS:C4014660 ; oboInOwl:hasExactSynonym "VARS2", "kiaa1885", "mitochondrial valrs", @@ -308806,7 +321422,10 @@ OMIM:612802 a owl:Class ; "valyl-trna synthetase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57176 ; - skos:exactMatch HGNC_symbol:VARS2 ; + skos:exactMatch UMLS:C1823614, + UMLS:C4014660, + HGNC:21642, + HGNC_symbol:VARS2 ; biolink:category biolink:Gene . OMIM:612803 a owl:Class ; @@ -308820,14 +321439,15 @@ OMIM:612803 a owl:Class ; PMID:30327238 ; RO:0002525 CHR:9606chr11q14.1 ; RO:0003303 OMIM:616239 ; - oboInOwl:hasDbXref UMLS:C1826350 ; oboInOwl:hasExactSynonym "NARS2", "asparaginyl-trna synthetase 2", "asparaginyl-trna synthetase, mitochondrial", "mitochondrial asnrs" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79731 ; - skos:exactMatch HGNC_symbol:NARS2 ; + skos:exactMatch UMLS:C1826350, + HGNC:26274, + HGNC_symbol:NARS2 ; biolink:category biolink:Gene . OMIM:612804 a owl:Class ; @@ -308838,15 +321458,16 @@ OMIM:612804 a owl:Class ; PMID:24034276 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:613845 ; - oboInOwl:hasDbXref UMLS:C1425041, - UMLS:C3151209 ; oboInOwl:hasExactSynonym "SARS2", "mitochondrial serrs", "seryl-trna synthetase 2", "seryl-trna synthetase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54938 ; - skos:exactMatch HGNC_symbol:SARS2 ; + skos:exactMatch UMLS:C1425041, + UMLS:C3151209, + HGNC:17697, + HGNC_symbol:SARS2 ; biolink:category biolink:Gene . OMIM:612805 a owl:Class ; @@ -308855,27 +321476,29 @@ OMIM:612805 a owl:Class ; PMID:24827421 ; RO:0002525 CHR:9606chr1q21.2 ; RO:0003303 OMIM:615918 ; - oboInOwl:hasDbXref UMLS:C1539926 ; oboInOwl:hasExactSynonym "TARS2", "mitochondrial thrrs", "threonyl-trna synthetase 2", "threonyl-trna synthetase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80222 ; - skos:exactMatch HGNC_symbol:TARS2 ; + skos:exactMatch UMLS:C1539926, + HGNC:30740, + HGNC_symbol:TARS2 ; biolink:category biolink:Gene . OMIM:612806 a owl:Class ; rdfs:label "GPR89B" ; IAO:0000142 PMID:18794847 ; - oboInOwl:hasDbXref UMLS:C1825398 ; oboInOwl:hasExactSynonym "GPR89B", "g protein-coupled receptor 89b", "golgi ph regulator", "gpr89, telomeric copy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51463 ; - skos:exactMatch HGNC_symbol:GPR89B ; + skos:exactMatch UMLS:C1825398, + HGNC:13840, + HGNC_symbol:GPR89B ; biolink:category biolink:Gene . OMIM:612807 a owl:Class ; @@ -308883,14 +321506,15 @@ OMIM:612807 a owl:Class ; IAO:0000142 PMID:10819331, PMID:16495444, PMID:16828986 ; - oboInOwl:hasDbXref UMLS:C1428825 ; oboInOwl:hasExactSynonym "LRFN1", "kiaa1484", "leucine-rich repeat and fibronectin iia 3 domain-containing protein 1", "synaptic adhesion-like molecule 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57622 ; - skos:exactMatch HGNC_symbol:LRFN1 ; + skos:exactMatch UMLS:C1428825, + HGNC:29290, + HGNC_symbol:LRFN1 ; biolink:category biolink:Gene . OMIM:612808 a owl:Class ; @@ -308899,63 +321523,68 @@ OMIM:612808 a owl:Class ; PMID:16495444, PMID:16828986, PMID:26486473 ; - oboInOwl:hasDbXref UMLS:C1427431 ; oboInOwl:hasExactSynonym "LRFN2", "kiaa1246", "leucine-rich repeat and fibronectin iia 3 domain-containing protein 2", "synaptic adhesion-like molecule 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57497 ; - skos:exactMatch HGNC_symbol:LRFN2 ; + skos:exactMatch UMLS:C1427431, + HGNC:21226, + HGNC_symbol:LRFN2 ; biolink:category biolink:Gene . OMIM:612809 a owl:Class ; rdfs:label "LRFN3" ; IAO:0000142 PMID:16495444, PMID:16828986 ; - oboInOwl:hasDbXref UMLS:C1428696 ; oboInOwl:hasExactSynonym "LRFN3", "leucine-rich repeat and fibronectin iia 3 domain-containing protein 3", "synaptic adhesion-like molecule 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79414 ; - skos:exactMatch HGNC_symbol:LRFN3 ; + skos:exactMatch UMLS:C1428696, + HGNC:28370, + HGNC_symbol:LRFN3 ; biolink:category biolink:Gene . OMIM:612810 a owl:Class ; rdfs:label "LRFN4" ; IAO:0000142 PMID:16495444, PMID:16828986 ; - oboInOwl:hasDbXref UMLS:C1428712 ; oboInOwl:hasExactSynonym "LRFN4", "leucine-rich repeat and fibronectin iia 3 domain-containing protein 4", "synaptic adhesion-like molecule 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:78999 ; - skos:exactMatch HGNC_symbol:LRFN4 ; + skos:exactMatch UMLS:C1428712, + HGNC:28456, + HGNC_symbol:LRFN4 ; biolink:category biolink:Gene . OMIM:612811 a owl:Class ; rdfs:label "LRFN5" ; IAO:0000142 PMID:16828986 ; - oboInOwl:hasDbXref UMLS:C1426894 ; oboInOwl:hasExactSynonym "LRFN5", "leucine-rich repeat and fibronectin iia 3 domain-containing protein 5", "synaptic adhesion-like molecule 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145581 ; - skos:exactMatch HGNC_symbol:LRFN5 ; + skos:exactMatch UMLS:C1426894, + HGNC:20360, + HGNC_symbol:LRFN5 ; biolink:category biolink:Gene . OMIM:612812 a owl:Class ; rdfs:label "PFN3" ; IAO:0000142 PMID:11867228 ; - oboInOwl:hasDbXref UMLS:C1826569 ; oboInOwl:hasExactSynonym "PFN3", "profilin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345456 ; - skos:exactMatch HGNC_symbol:PFN3 ; + skos:exactMatch UMLS:C1826569, + HGNC:18627, + HGNC_symbol:PFN3 ; biolink:category biolink:Gene . OMIM:612814 a owl:Class ; @@ -308963,78 +321592,84 @@ OMIM:612814 a owl:Class ; IAO:0000142 PMID:15236321, PMID:16088906, PMID:21300779 ; - oboInOwl:hasDbXref UMLS:C1539812 ; oboInOwl:hasExactSynonym "SPATA18", "spermatid-expressed gene 1", "spermatogenesis-associated protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132671 ; - skos:exactMatch HGNC_symbol:SPATA18 ; + skos:exactMatch UMLS:C1539812, + HGNC:29579, + HGNC_symbol:SPATA18 ; biolink:category biolink:Gene . OMIM:612815 a owl:Class ; rdfs:label "ZDHHC13" ; IAO:0000142 PMID:12393793, PMID:18794299 ; - oboInOwl:hasDbXref UMLS:C1538167 ; oboInOwl:hasExactSynonym "ZDHHC13", "hip14-like", "zinc finger dhhc domain-containing protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54503 ; - skos:exactMatch HGNC_symbol:ZDHHC13 ; + skos:exactMatch UMLS:C1538167, + HGNC:18413, + HGNC_symbol:ZDHHC13 ; biolink:category biolink:Gene . OMIM:612816 a owl:Class ; rdfs:label "UTP18" ; IAO:0000142 PMID:15590835, PMID:24754225 ; - oboInOwl:hasDbXref UMLS:C1823611 ; oboInOwl:hasExactSynonym "UTP18", "utp18 small subunit processome component", "utp18, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51096 ; - skos:exactMatch HGNC_symbol:UTP18 ; + skos:exactMatch UMLS:C1823611, + HGNC:24274, + HGNC_symbol:UTP18 ; biolink:category biolink:Gene . OMIM:612817 a owl:Class ; rdfs:label "KRR1" ; IAO:0000142 PMID:11359931, PMID:15590835 ; - oboInOwl:hasDbXref UMLS:C1825740 ; oboInOwl:hasExactSynonym "KRR1", "krr1 small subunitprocessome component homolog", "krr1, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11103 ; - skos:exactMatch HGNC_symbol:KRR1 ; + skos:exactMatch UMLS:C1825740, + HGNC:5176, + HGNC_symbol:KRR1 ; biolink:category biolink:Gene . OMIM:612818 a owl:Class ; rdfs:label "NUSAP1" ; IAO:0000142 PMID:12963707 ; - oboInOwl:hasDbXref UMLS:C1425583 ; oboInOwl:hasExactSynonym "NUSAP1", "nucleolar and spindle-associated protein 1", "nucleolar protein ankt", "nusap" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51203 ; - skos:exactMatch HGNC_symbol:NUSAP1 ; + skos:exactMatch UMLS:C1425583, + HGNC:18538, + HGNC_symbol:NUSAP1 ; biolink:category biolink:Gene . OMIM:612819 a owl:Class ; rdfs:label "NOC4L" ; IAO:0000142 PMID:12446671 ; - oboInOwl:hasDbXref UMLS:C1826447 ; oboInOwl:hasExactSynonym "NOC4L", "noc4", "nucleolar complex-associated protein 4 homolog", "nucleolar complex-associated protein 4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79050 ; - skos:exactMatch HGNC_symbol:NOC4L ; + skos:exactMatch UMLS:C1826447, + HGNC:28461, + HGNC_symbol:NOC4L ; biolink:category biolink:Gene . OMIM:612820 a owl:Class ; @@ -309042,7 +321677,6 @@ OMIM:612820 a owl:Class ; IAO:0000142 PMID:17196182, PMID:22389504, PMID:8995369 ; - oboInOwl:hasDbXref UMLS:C1826467 ; oboInOwl:hasExactSynonym "NPTN", "glycoprotein, 55-kd", "glycoprotein, 65-kd", @@ -309052,18 +321686,21 @@ OMIM:612820 a owl:Class ; "stromal cell-derived factor receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27020 ; - skos:exactMatch HGNC_symbol:NPTN ; + skos:exactMatch UMLS:C1826467, + HGNC:17867, + HGNC_symbol:NPTN ; biolink:category biolink:Gene . OMIM:612821 a owl:Class ; rdfs:label "GPR89A" ; - oboInOwl:hasDbXref UMLS:C1825399 ; oboInOwl:hasExactSynonym "GPR89A", "g protein-coupled receptor 89a", "gpr89, centromeric copy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653519 ; - skos:exactMatch HGNC_symbol:GPR89A ; + skos:exactMatch UMLS:C1825399, + HGNC:31984, + HGNC_symbol:GPR89A ; biolink:category biolink:Gene . OMIM:612822 a owl:Class ; @@ -309072,35 +321709,36 @@ OMIM:612822 a owl:Class ; PMID:15656982, PMID:17498821, PMID:9673349 ; - oboInOwl:hasDbXref UMLS:C1823612 ; oboInOwl:hasExactSynonym "UTP20", "downregulated 1n metastasis", "utp20 small subunit processome component", "utp20, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27340 ; - skos:exactMatch HGNC_symbol:UTP20 ; + skos:exactMatch UMLS:C1823612, + HGNC:17897, + HGNC_symbol:UTP20 ; biolink:category biolink:Gene . OMIM:612823 a owl:Class ; rdfs:label "TAF1D" ; IAO:0000142 PMID:15520167, PMID:17318177 ; - oboInOwl:hasDbXref UMLS:C1825640 ; oboInOwl:hasExactSynonym "TAF1D", "josephin domain-containing 3", "tata box-binding protein-associated factor 1d", "tbp-associated factor, RNA polymerase i, 41-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79101 ; - skos:exactMatch HGNC_symbol:TAF1D ; + skos:exactMatch UMLS:C1825640, + HGNC:28759, + HGNC_symbol:TAF1D ; biolink:category biolink:Gene . OMIM:612824 a owl:Class ; rdfs:label "SEC14L3" ; IAO:0000142 PMID:12757856, PMID:15040456 ; - oboInOwl:hasDbXref UMLS:C1425682 ; oboInOwl:hasExactSynonym "SEC14L3", "sec14, s. cerevisiae, homolog of, 3", "sec14-like 3", @@ -309108,13 +321746,14 @@ OMIM:612824 a owl:Class ; "tocopherol-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266629 ; - skos:exactMatch HGNC_symbol:SEC14L3 ; + skos:exactMatch UMLS:C1425682, + HGNC:18655, + HGNC_symbol:SEC14L3 ; biolink:category biolink:Gene . OMIM:612825 a owl:Class ; rdfs:label "SEC14L4" ; IAO:0000142 PMID:12757856 ; - oboInOwl:hasDbXref UMLS:C1427039 ; oboInOwl:hasExactSynonym "SEC14L4", "sec14, s. cerevisiae, homolog of, 4", "sec14-like 4", @@ -309122,7 +321761,9 @@ OMIM:612825 a owl:Class ; "tocopherol-associated protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284904 ; - skos:exactMatch HGNC_symbol:SEC14L4 ; + skos:exactMatch UMLS:C1427039, + HGNC:20627, + HGNC_symbol:SEC14L4 ; biolink:category biolink:Gene . OMIM:612826 a owl:Class ; @@ -309131,52 +321772,56 @@ OMIM:612826 a owl:Class ; PMID:11756451, PMID:17895250, PMID:18583713 ; - oboInOwl:hasDbXref UMLS:C1425046 ; oboInOwl:hasExactSynonym "SGPP1", "sphingosine-1-phosphate phosphatase 1", "spp1", "sppase1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81537 ; - skos:exactMatch HGNC_symbol:SGPP1 ; + skos:exactMatch UMLS:C1425046, + HGNC:17720, + HGNC_symbol:SGPP1 ; biolink:category biolink:Gene . OMIM:612827 a owl:Class ; rdfs:label "SGPP2" ; IAO:0000142 PMID:12411432, PMID:17113265 ; - oboInOwl:hasDbXref UMLS:C1426555 ; oboInOwl:hasExactSynonym "SGPP2", "sphingosine-1-phosphate phosphatase 2", "sphingosine-1-phosphate phosphohydrolase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130367 ; - skos:exactMatch HGNC_symbol:SGPP2 ; + skos:exactMatch UMLS:C1426555, + HGNC:19953, + HGNC_symbol:SGPP2 ; biolink:category biolink:Gene . OMIM:612828 a owl:Class ; rdfs:label "CEBPZ" ; IAO:0000142 PMID:12446671, PMID:2247079 ; - oboInOwl:hasDbXref UMLS:C1428360 ; oboInOwl:hasExactSynonym "CEBPZ", "cbf", "ccaat/enhancer-binding protein, zeta", "nucleolar complex-associated protein 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10153 ; - skos:exactMatch HGNC_symbol:CEBPZ ; + skos:exactMatch UMLS:C1428360, + HGNC:24218, + HGNC_symbol:CEBPZ ; biolink:category biolink:Gene . OMIM:612829 a owl:Class ; rdfs:label "RAB3C" ; IAO:0000142 PMID:12296628 ; - oboInOwl:hasDbXref UMLS:C1428952 ; oboInOwl:hasExactSynonym "RAB3C", "ras-associated protein rab3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115827 ; - skos:exactMatch HGNC_symbol:RAB3C ; + skos:exactMatch UMLS:C1428952, + HGNC:30269, + HGNC_symbol:RAB3C ; biolink:category biolink:Gene . OMIM:612830 a owl:Class ; @@ -309185,14 +321830,15 @@ OMIM:612830 a owl:Class ; PMID:11861404, PMID:17286855, PMID:9705317 ; - oboInOwl:hasDbXref UMLS:C1425040 ; oboInOwl:hasExactSynonym "DHRS3", "retsdr1", "sdr family, member 3", "short-chain dehydrogenase/reductase family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9249 ; - skos:exactMatch HGNC_symbol:DHRS3 ; + skos:exactMatch UMLS:C1425040, + HGNC:17693, + HGNC_symbol:DHRS3 ; biolink:category biolink:Gene . OMIM:612831 a owl:Class ; @@ -309201,7 +321847,6 @@ OMIM:612831 a owl:Class ; PMID:11165019, PMID:12697717, PMID:9888557 ; - oboInOwl:hasDbXref UMLS:C1825529 ; oboInOwl:hasExactSynonym "17-beta-hsdxi", "17-beta-hydroxysteroid dehydrogenase 11", "HSD17B11", @@ -309209,14 +321854,15 @@ OMIM:612831 a owl:Class ; "retsdr2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51170 ; - skos:exactMatch HGNC_symbol:HSD17B11 ; + skos:exactMatch UMLS:C1825529, + HGNC:22960, + HGNC_symbol:HSD17B11 ; biolink:category biolink:Gene . OMIM:612832 a owl:Class ; rdfs:label "HSD17B14" ; IAO:0000142 PMID:10800688, PMID:17067289 ; - oboInOwl:hasDbXref UMLS:C1825530 ; oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase 14", "HSD17B14", "retsdr3", @@ -309224,20 +321870,23 @@ OMIM:612832 a owl:Class ; "short-chain dehydrogenase/reductase family, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51171 ; - skos:exactMatch HGNC_symbol:HSD17B14 ; + skos:exactMatch UMLS:C1825530, + HGNC:23238, + HGNC_symbol:HSD17B14 ; biolink:category biolink:Gene . OMIM:612833 a owl:Class ; rdfs:label "DHRS7" ; IAO:0000142 PMID:10800688 ; - oboInOwl:hasDbXref UMLS:C1427588 ; oboInOwl:hasExactSynonym "DHRS7", "retsdr4", "sdr family, member 7", "short-chain dehydrogenase/reductase family, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51635 ; - skos:exactMatch HGNC_symbol:DHRS7 ; + skos:exactMatch UMLS:C1427588, + HGNC:21524, + HGNC_symbol:DHRS7 ; biolink:category biolink:Gene . OMIM:612834 a owl:Class ; @@ -309245,14 +321894,15 @@ OMIM:612834 a owl:Class ; IAO:0000142 PMID:11001876, PMID:14532993, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1428201 ; oboInOwl:hasExactSynonym "PHLDB1", "kiaa0638", "ll5a", "pleckstrin homology-like domain, family b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23187 ; - skos:exactMatch HGNC_symbol:PHLDB1 ; + skos:exactMatch UMLS:C1428201, + HGNC:23697, + HGNC_symbol:PHLDB1 ; biolink:category biolink:Gene . OMIM:612835 a owl:Class ; @@ -309260,14 +321910,15 @@ OMIM:612835 a owl:Class ; IAO:0000142 PMID:10470851, PMID:15583837, PMID:15702972 ; - oboInOwl:hasDbXref UMLS:C1826592 ; oboInOwl:hasExactSynonym "PLCH1", "kiaa1069", "phospholipase c like-3", "phospholipase c, eta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23007 ; - skos:exactMatch HGNC_symbol:PLCH1 ; + skos:exactMatch UMLS:C1826592, + HGNC:29185, + HGNC_symbol:PLCH1 ; biolink:category biolink:Gene . OMIM:612836 a owl:Class ; @@ -309275,13 +321926,14 @@ OMIM:612836 a owl:Class ; IAO:0000142 PMID:15583837, PMID:15899900, PMID:16107206 ; - oboInOwl:hasDbXref UMLS:C1826593 ; oboInOwl:hasExactSynonym "PLCH2", "phospholipase c like-4", "phospholipase c, eta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9651 ; - skos:exactMatch HGNC_symbol:PLCH2 ; + skos:exactMatch UMLS:C1826593, + HGNC:29037, + HGNC_symbol:PLCH2 ; biolink:category biolink:Gene . OMIM:612837 a owl:Class ; @@ -309294,26 +321946,27 @@ OMIM:612837 a owl:Class ; PMID:26081641 ; RO:0002525 CHR:9606chr16q21 ; RO:0003303 OMIM:614654 ; - oboInOwl:hasDbXref UMLS:C1824778 ; oboInOwl:hasExactSynonym "COQ9", "chromosome 16 open reading frame 49", "coenzyme 9", "coq9, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57017 ; - skos:exactMatch HGNC_symbol:COQ9 ; + skos:exactMatch UMLS:C1824778, + HGNC:25302, + HGNC_symbol:COQ9 ; biolink:category biolink:Gene . OMIM:612838 a owl:Class ; rdfs:label "brugada syndrome 5" ; IAO:0000142 PMID:15655131, PMID:18464934 ; - oboInOwl:hasDbXref UMLS:C2748541, - UMLS:C2748542 ; oboInOwl:hasExactSynonym "BRGDA5", "brugada syndrome 5", "cardiac conduction defect, nonspecific" ; rdfs:subClassOf OMIMPS:601144 ; + skos:exactMatch UMLS:C2748541, + UMLS:C2748542 ; biolink:category biolink:Disease . OMIM:612839 a owl:Class ; @@ -309351,15 +322004,16 @@ OMIM:612839 a owl:Class ; PMID:32518946 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:614286 ; - oboInOwl:hasDbXref UMLS:C1825692, - UMLS:C5436860 ; oboInOwl:hasExactSynonym "TET2", "kiaa1546", "tet methylcytosine dioxygenase 2", "tet oncogene family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54790 ; - skos:exactMatch HGNC_symbol:TET2 ; + skos:exactMatch UMLS:C1825692, + UMLS:C5436860, + HGNC:25941, + HGNC_symbol:TET2 ; biolink:category biolink:Gene . OMIM:612842 a owl:Class ; @@ -309369,23 +322023,24 @@ OMIM:612842 a owl:Class ; PMID:14724584, PMID:15199135, PMID:17556863 ; - oboInOwl:hasDbXref UMLS:C1425383 ; oboInOwl:hasExactSynonym "RASD2", "ras homolog enriched 1n striatum", "rasd family, member 2", "tumor endothelial marker 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23551 ; - skos:exactMatch HGNC_symbol:RASD2 ; + skos:exactMatch UMLS:C1425383, + HGNC:18229, + HGNC_symbol:RASD2 ; biolink:category biolink:Gene . OMIM:612843 a owl:Class ; rdfs:label "keratosis follicularis spinulosa decalvans, autosomal dominant" ; IAO:0000142 PMID:18280351, PMID:18984066 ; - oboInOwl:hasDbXref UMLS:C2748527 ; oboInOwl:hasExactSynonym "KFSD", "keratosis follicularis spinulosa decalvans, autosomal dominant" ; + skos:exactMatch UMLS:C2748527 ; biolink:category biolink:Disease . OMIM:612844 a owl:Class ; @@ -309394,13 +322049,14 @@ OMIM:612844 a owl:Class ; PMID:16738315, PMID:18259216, PMID:19015314 ; - oboInOwl:hasDbXref UMLS:C1425138 ; oboInOwl:hasExactSynonym "SENP3", "sentrin-specific protease family, member 3", "sumo-specific protease 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26168 ; - skos:exactMatch HGNC_symbol:SENP3 ; + skos:exactMatch UMLS:C1425138, + HGNC:17862, + HGNC_symbol:SENP3 ; biolink:category biolink:Gene . OMIM:612845 a owl:Class ; @@ -309408,27 +322064,29 @@ OMIM:612845 a owl:Class ; IAO:0000142 PMID:16608850, PMID:16738315, PMID:19015314 ; - oboInOwl:hasDbXref UMLS:C1428705 ; oboInOwl:hasExactSynonym "SENP5", "sentrin-specific protease family, member 5", "sumo-specific protease 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:205564 ; - skos:exactMatch HGNC_symbol:SENP5 ; + skos:exactMatch UMLS:C1428705, + HGNC:28407, + HGNC_symbol:SENP5 ; biolink:category biolink:Gene . OMIM:612846 a owl:Class ; rdfs:label "SENP7" ; IAO:0000142 PMID:11214970, PMID:18799455 ; - oboInOwl:hasDbXref UMLS:C1428976 ; oboInOwl:hasExactSynonym "SENP7", "kiaa1707", "sentrin-specific protease family, member 7", "sumo-specific protease 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57337 ; - skos:exactMatch HGNC_symbol:SENP7 ; + skos:exactMatch UMLS:C1428976, + HGNC:30402, + HGNC_symbol:SENP7 ; biolink:category biolink:Gene . OMIM:612848 a owl:Class ; @@ -309438,24 +322096,26 @@ OMIM:612848 a owl:Class ; PMID:19465911 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:619166 ; - oboInOwl:hasDbXref UMLS:C2748512 ; oboInOwl:hasExactSynonym "SDHAF1", "succinate dehydrogenase complex assembly factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644096 ; - skos:exactMatch HGNC_symbol:SDHAF1 ; + skos:exactMatch UMLS:C2748512, + HGNC:33867, + HGNC_symbol:SDHAF1 ; biolink:category biolink:Gene . OMIM:612849 a owl:Class ; rdfs:label "USP46" ; IAO:0000142 PMID:14715245, PMID:19465912 ; - oboInOwl:hasDbXref UMLS:C1426663 ; oboInOwl:hasExactSynonym "USP46", "ubiquitin-specific peptidase 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64854 ; - skos:exactMatch HGNC_symbol:USP46 ; + skos:exactMatch UMLS:C1426663, + HGNC:20075, + HGNC_symbol:USP46 ; biolink:category biolink:Gene . OMIM:612850 a owl:Class ; @@ -309472,13 +322132,14 @@ OMIM:612850 a owl:Class ; PMID:26732629 ; RO:0002525 CHR:9606chr6p25.2 ; RO:0003303 OMIM:610031 ; - oboInOwl:hasDbXref UMLS:C1823553 ; oboInOwl:hasExactSynonym "TUBB2B", "tubulin, beta, class 2b", "tubulin, beta-2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347733 ; - skos:exactMatch HGNC_symbol:TUBB2B ; + skos:exactMatch UMLS:C1823553, + HGNC:30829, + HGNC_symbol:TUBB2B ; biolink:category biolink:Gene . OMIM:612852 a owl:Class ; @@ -309488,10 +322149,10 @@ OMIM:612852 a owl:Class ; PMID:2212151, PMID:3889053, PMID:8415308 ; - oboInOwl:hasDbXref UMLS:C2748507 ; oboInOwl:hasExactSynonym "OMPP", "interleukin 1 receptor antagonist deficiency", "osteomyelitis, sterile multifocal, with periostitis and pustulosis" ; + skos:exactMatch UMLS:C2748507 ; biolink:category biolink:Disease . OMIM:612854 a owl:Class ; @@ -309501,7 +322162,6 @@ OMIM:612854 a owl:Class ; PMID:17428803, PMID:25956157, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C2239919 ; oboInOwl:hasExactSynonym "SEC16A", "kiaa0310", "p250", @@ -309510,14 +322170,15 @@ OMIM:612854 a owl:Class ; "sec16l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9919 ; - skos:exactMatch HGNC_symbol:SEC16A ; + skos:exactMatch UMLS:C2239919, + HGNC:29006, + HGNC_symbol:SEC16A ; biolink:category biolink:Gene . OMIM:612855 a owl:Class ; rdfs:label "SEC16B" ; IAO:0000142 PMID:11605020, PMID:17192411 ; - oboInOwl:hasDbXref UMLS:C1825931 ; oboInOwl:hasExactSynonym "SEC16B", "leucine zipper transcription regulator 2", "regucalcin gene promoter region-related protein", @@ -309526,63 +322187,68 @@ OMIM:612855 a owl:Class ; "sec16s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89866 ; - skos:exactMatch HGNC_symbol:SEC16B ; + skos:exactMatch UMLS:C1825931, + HGNC:30301, + HGNC_symbol:SEC16B ; biolink:category biolink:Gene . OMIM:612856 a owl:Class ; rdfs:label "ASTN2" ; IAO:0000142 PMID:15656990, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1424691 ; oboInOwl:hasExactSynonym "ASTN2", "astrotactin 2", "kiaa0634" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23245 ; - skos:exactMatch HGNC_symbol:ASTN2 ; + skos:exactMatch UMLS:C1424691, + HGNC:17021, + HGNC_symbol:ASTN2 ; biolink:category biolink:Gene . OMIM:612857 a owl:Class ; rdfs:label "PLAC9" ; IAO:0000142 PMID:12758124 ; - oboInOwl:hasDbXref UMLS:C1426120 ; oboInOwl:hasExactSynonym "PLAC9", "placenta-specific gene 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219348 ; - skos:exactMatch HGNC_symbol:PLAC9 ; + skos:exactMatch UMLS:C1426120, + HGNC:19255, + HGNC_symbol:PLAC9 ; biolink:category biolink:Gene . OMIM:612859 a owl:Class ; rdfs:label "TIGIT" ; IAO:0000142 PMID:19011627, PMID:19815499 ; - oboInOwl:hasDbXref UMLS:C1823649 ; oboInOwl:hasExactSynonym "TIGIT", "t-cell immunoreceptor with immunoglobulin and itim domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201633 ; - skos:exactMatch HGNC_symbol:TIGIT ; + skos:exactMatch UMLS:C1823649, + HGNC:26838, + HGNC_symbol:TIGIT ; biolink:category biolink:Gene . OMIM:612860 a owl:Class ; rdfs:label "QSOX2" ; IAO:0000142 PMID:14633699, PMID:22801504 ; - oboInOwl:hasDbXref UMLS:C1428946 ; oboInOwl:hasExactSynonym "QSOX2", "quiescin q6 sulfhydryl oxidase 2", "sulfhydryl oxidase, neuroblastoma-derived" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:169714 ; - skos:exactMatch HGNC_symbol:QSOX2 ; + skos:exactMatch UMLS:C1428946, + HGNC:30249, + HGNC_symbol:QSOX2 ; biolink:category biolink:Gene . OMIM:612861 a owl:Class ; rdfs:label "NOP16" ; IAO:0000142 PMID:11042152, PMID:18373870 ; - oboInOwl:hasDbXref UMLS:C2678520 ; oboInOwl:hasExactSynonym "NOP16", "hbv pre-s2 transregulated protein 3", "hspc111", @@ -309590,7 +322256,9 @@ OMIM:612861 a owl:Class ; "nop16, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51491 ; - skos:exactMatch HGNC_symbol:NOP16 ; + skos:exactMatch UMLS:C2678520, + HGNC:26934, + HGNC_symbol:NOP16 ; biolink:category biolink:Gene . OMIM:612863 a owl:Class ; @@ -309605,33 +322273,35 @@ OMIM:612863 a owl:Class ; PMID:20493459, PMID:9863602 ; RO:0002525 CHR:9606chr6q24-q25 ; - oboInOwl:hasDbXref UMLS:C3150215 ; oboInOwl:hasExactSynonym "chromosome 6q24-q25 deletion syndrome" ; + skos:exactMatch UMLS:C3150215 ; biolink:category biolink:Disease . OMIM:612864 a owl:Class ; rdfs:label "PLA2G4D" ; IAO:0000142 PMID:14709560 ; - oboInOwl:hasDbXref UMLS:C1428923 ; oboInOwl:hasExactSynonym "PLA2G4D", "cpla2-delta", "phospholipase a2 delta, cytosolic", "phospholipase a2, group 4d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283748 ; - skos:exactMatch HGNC_symbol:PLA2G4D ; + skos:exactMatch UMLS:C1428923, + HGNC:30038, + HGNC_symbol:PLA2G4D ; biolink:category biolink:Gene . OMIM:612865 a owl:Class ; rdfs:label "PIP5KL1" ; IAO:0000142 PMID:14701839 ; - oboInOwl:hasDbXref UMLS:C1428738 ; oboInOwl:hasExactSynonym "PIP5KL1", "phosphatidylinositol 4-phosphate-5-kinase-like 1", "phosphatidylinositol phosphate kinase homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:138429 ; - skos:exactMatch HGNC_symbol:PIP5KL1 ; + skos:exactMatch UMLS:C1428738, + HGNC:28711, + HGNC_symbol:PIP5KL1 ; biolink:category biolink:Gene . OMIM:612866 a owl:Class ; @@ -309643,26 +322313,27 @@ OMIM:612866 a owl:Class ; PMID:30221345 ; RO:0002525 CHR:9606chr1p21.3 ; RO:0003303 OMIM:619036 ; - oboInOwl:hasDbXref UMLS:C1823173, - UMLS:C4015596, - UMLS:C5436646, - UMLS:C5436652 ; oboInOwl:hasExactSynonym "ALG14", "alg14 udp-n-acetylglucosaminyltransferase subunit", "alg14, s. cerevisiae, homolog of", "asparagine-linked glycosylation 14, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199857 ; - skos:exactMatch HGNC_symbol:ALG14 ; + skos:exactMatch UMLS:C1823173, + UMLS:C4015596, + UMLS:C5436646, + UMLS:C5436652, + HGNC:28287, + HGNC_symbol:ALG14 ; biolink:category biolink:Gene . OMIM:612867 a owl:Class ; rdfs:label "corneal dystrophy, subepithelial mucinous" ; IAO:0000142 PMID:8352693 ; - oboInOwl:hasDbXref UMLS:C2748503 ; oboInOwl:hasExactSynonym "SMCD", "corneal dystrophy, subepithelial mucinous", - "subepithelial mucinous corneal dystrophy" . + "subepithelial mucinous corneal dystrophy" ; + skos:exactMatch UMLS:C2748503 . OMIM:612868 a owl:Class ; rdfs:label "corneal dystrophy, posterior amorphous" ; @@ -309674,25 +322345,26 @@ OMIM:612868 a owl:Class ; PMID:301356, PMID:6607727 ; RO:0002525 CHR:9606chr12q21.33 ; - oboInOwl:hasDbXref UMLS:C2748502 ; oboInOwl:hasExactSynonym "PACD", "chromosome 12q21.33 deletion syndrome", "corneal dystrophy, posterior amorphous", "posterior amorphous corneal dystrophy" ; + skos:exactMatch UMLS:C2748502 ; biolink:category biolink:Disease . OMIM:612869 a owl:Class ; rdfs:label "ATRNL1" ; IAO:0000142 PMID:14531729, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1428783 ; oboInOwl:hasExactSynonym "ATRNL1", "alp", "attractin-like 1", "kiaa0534" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26033 ; - skos:exactMatch HGNC_symbol:ATRNL1 ; + skos:exactMatch UMLS:C1428783, + HGNC:29063, + HGNC_symbol:ATRNL1 ; biolink:category biolink:Gene . OMIM:612870 a owl:Class ; @@ -309704,46 +322376,50 @@ OMIM:612870 a owl:Class ; PMID:29209020 ; RO:0002525 CHR:9606chr6q14.1 ; RO:0003303 OMIM:617991 ; - oboInOwl:hasDbXref UMLS:C1423647 ; oboInOwl:hasExactSynonym "PHIP", "ddb1- and cul4-associated factor 14", "pleckstrin homology domain-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55023 ; - skos:exactMatch HGNC_symbol:PHIP ; + skos:exactMatch UMLS:C1423647, + HGNC:15673, + HGNC_symbol:PHIP ; biolink:category biolink:Gene . OMIM:612871 a owl:Class ; rdfs:label "NKAIN1" ; IAO:0000142 PMID:17606467 ; - oboInOwl:hasDbXref UMLS:C1825148 ; oboInOwl:hasExactSynonym "NKAIN1", "na+/k+ transporting atpase-interacting 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79570 ; - skos:exactMatch HGNC_symbol:NKAIN1 ; + skos:exactMatch UMLS:C1825148, + HGNC:25743, + HGNC_symbol:NKAIN1 ; biolink:category biolink:Gene . OMIM:612872 a owl:Class ; rdfs:label "NKAIN3" ; IAO:0000142 PMID:17606467 ; - oboInOwl:hasDbXref UMLS:C1825149 ; oboInOwl:hasExactSynonym "NKAIN3", "na+/k+ transporting atpase-interacting 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286183 ; - skos:exactMatch HGNC_symbol:NKAIN3 ; + skos:exactMatch UMLS:C1825149, + HGNC:26829, + HGNC_symbol:NKAIN3 ; biolink:category biolink:Gene . OMIM:612873 a owl:Class ; rdfs:label "NKAIN4" ; IAO:0000142 PMID:17606467 ; - oboInOwl:hasDbXref UMLS:C1424068 ; oboInOwl:hasExactSynonym "NKAIN4", "na+/k+ transporting atpase-interacting 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128414 ; - skos:exactMatch HGNC_symbol:NKAIN4 ; + skos:exactMatch UMLS:C1424068, + HGNC:16191, + HGNC_symbol:NKAIN4 ; biolink:category biolink:Gene . OMIM:612878 a owl:Class ; @@ -309753,25 +322429,27 @@ OMIM:612878 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr11q22.3 ; RO:0003303 OMIM:615028 ; - oboInOwl:hasDbXref UMLS:C1825081 ; oboInOwl:hasExactSynonym "EXPH5", "exophilin 5", "kiaa0624", "synaptotagmin-like protein lacking c2 domains B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23086 ; - skos:exactMatch HGNC_symbol:EXPH5 ; + skos:exactMatch UMLS:C1825081, + HGNC:30578, + HGNC_symbol:EXPH5 ; biolink:category biolink:Gene . OMIM:612879 a owl:Class ; rdfs:label "MAMDC2" ; IAO:0000142 PMID:19343044 ; - oboInOwl:hasDbXref UMLS:C1428190 ; oboInOwl:hasExactSynonym "MAMDC2", "mam domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256691 ; - skos:exactMatch HGNC_symbol:MAMDC2 ; + skos:exactMatch UMLS:C1428190, + HGNC:23673, + HGNC_symbol:MAMDC2 ; biolink:category biolink:Gene . OMIM:612880 a owl:Class ; @@ -309781,7 +322459,6 @@ OMIM:612880 a owl:Class ; PMID:15543135, PMID:17182843, PMID:18812475 ; - oboInOwl:hasDbXref UMLS:C1423595 ; oboInOwl:hasExactSynonym "SYTL2", "exophilin 4", "kiaa1597", @@ -309790,7 +322467,9 @@ OMIM:612880 a owl:Class ; "synaptotagmin-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54843 ; - skos:exactMatch HGNC_symbol:SYTL2 ; + skos:exactMatch UMLS:C1423595, + HGNC:15585, + HGNC_symbol:SYTL2 ; biolink:category biolink:Gene . OMIM:612881 a owl:Class ; @@ -309801,74 +322480,79 @@ OMIM:612881 a owl:Class ; PMID:19876902, PMID:23300014 ; RO:0002525 CHR:9606chr5q14.3-q15 ; - oboInOwl:hasDbXref UMLS:C2752071 ; oboInOwl:hasExactSynonym "chromosome 5q14.3 deletion syndrome, distal", "heterotopia, periventricular, associated with chromosome 5q deletion", "periventricular nodular heterotopia 5" ; rdfs:subClassOf OMIMPS:300049 ; + skos:exactMatch UMLS:C2752071 ; biolink:category biolink:Disease . OMIM:612887 a owl:Class ; rdfs:label "SEPT11" ; IAO:0000142 PMID:15196925, PMID:15485874 ; - oboInOwl:hasDbXref UMLS:C1539751 ; oboInOwl:hasExactSynonym "SEPT11", "septin 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55752 ; - skos:exactMatch HGNC_symbol:SEPTIN11 ; + skos:exactMatch UMLS:C1539751, + HGNC:25589, + HGNC_symbol:SEPTIN11 ; biolink:category biolink:Gene . OMIM:612888 a owl:Class ; rdfs:label "LRRC8B" ; IAO:0000142 PMID:15094057, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1825877 ; oboInOwl:hasExactSynonym "LRRC8B", "kiaa0231", "leucine-rich repeat-containing protein 8b", "t-cell activation leucine repeat-rich protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23507 ; - skos:exactMatch HGNC_symbol:LRRC8B ; + skos:exactMatch UMLS:C1825877, + HGNC:30692, + HGNC_symbol:LRRC8B ; biolink:category biolink:Gene . OMIM:612889 a owl:Class ; rdfs:label "LRRC8C" ; IAO:0000142 PMID:15094057, PMID:15184384 ; - oboInOwl:hasDbXref UMLS:C1825878 ; oboInOwl:hasExactSynonym "LRRC8C", "ad158", "factor for adipocyte differentiation 158", "leucine-rich repeat-containing protein 8c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84230 ; - skos:exactMatch HGNC_symbol:LRRC8C ; + skos:exactMatch UMLS:C1825878, + HGNC:25075, + HGNC_symbol:LRRC8C ; biolink:category biolink:Gene . OMIM:612890 a owl:Class ; rdfs:label "LRRC8D" ; IAO:0000142 PMID:15094057 ; - oboInOwl:hasDbXref UMLS:C1825879 ; oboInOwl:hasExactSynonym "LRRC8D", "leucine-rich repeat-containing protein 5", "leucine-rich repeat-containing protein 8d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55144 ; - skos:exactMatch HGNC_symbol:LRRC8D ; + skos:exactMatch UMLS:C1825879, + HGNC:16992, + HGNC_symbol:LRRC8D ; biolink:category biolink:Gene . OMIM:612891 a owl:Class ; rdfs:label "LRRC8E" ; IAO:0000142 PMID:15094057 ; - oboInOwl:hasDbXref UMLS:C1825880 ; oboInOwl:hasExactSynonym "LRRC8E", "leucine-rich repeat-containing protein 8e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80131 ; - skos:exactMatch HGNC_symbol:LRRC8E ; + skos:exactMatch UMLS:C1825880, + HGNC:26272, + HGNC_symbol:LRRC8E ; biolink:category biolink:Gene . OMIM:612895 a owl:Class ; @@ -309877,37 +322561,40 @@ OMIM:612895 a owl:Class ; PMID:9119370 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:618529 ; - oboInOwl:hasDbXref UMLS:C1425235 ; oboInOwl:hasExactSynonym "NXN", "nucleoredoxin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64359 ; - skos:exactMatch HGNC_symbol:NXN ; + skos:exactMatch UMLS:C1425235, + HGNC:18008, + HGNC_symbol:NXN ; biolink:category biolink:Gene . OMIM:612896 a owl:Class ; rdfs:label "RDM1" ; IAO:0000142 PMID:15611051, PMID:17905820 ; - oboInOwl:hasDbXref UMLS:C1826792 ; oboInOwl:hasExactSynonym "RDM1", "rad52 motif-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201299 ; - skos:exactMatch HGNC_symbol:RDM1 ; + skos:exactMatch UMLS:C1826792, + HGNC:19950, + HGNC_symbol:RDM1 ; biolink:category biolink:Gene . OMIM:612897 a owl:Class ; rdfs:label "SEPT1" ; IAO:0000142 PMID:16179162, PMID:2174398 ; - oboInOwl:hasDbXref UMLS:C1414049 ; oboInOwl:hasExactSynonym "SEPT1", "diff6", "septin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1731 ; - skos:exactMatch HGNC_symbol:SEPTIN1 ; + skos:exactMatch UMLS:C1414049, + HGNC:2879, + HGNC_symbol:SEPTIN1 ; biolink:category biolink:Gene . OMIM:612898 a owl:Class ; @@ -309918,13 +322605,14 @@ OMIM:612898 a owl:Class ; PMID:26185144 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:616276 ; - oboInOwl:hasDbXref UMLS:C1426339 ; oboInOwl:hasExactSynonym "COQ4", "coenzyme q4", "coenzyme q4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51117 ; - skos:exactMatch HGNC_symbol:COQ4 ; + skos:exactMatch UMLS:C1426339, + HGNC:19693, + HGNC_symbol:COQ4 ; biolink:category biolink:Gene . OMIM:612901 a owl:Class ; @@ -309938,57 +322626,62 @@ OMIM:612901 a owl:Class ; PMID:3782288 ; RO:0002525 CHR:9606chr20q13.32 ; RO:0003303 OMIM:613112 ; - oboInOwl:hasDbXref UMLS:C1424130 ; oboInOwl:hasExactSynonym "TUBB1", "tubulin, beta, class 6", "tubulin, beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81027 ; - skos:exactMatch HGNC_symbol:TUBB1 ; + skos:exactMatch UMLS:C1424130, + HGNC:16257, + HGNC_symbol:TUBB1 ; biolink:category biolink:Gene . OMIM:612902 a owl:Class ; rdfs:label "LCN8" ; IAO:0000142 PMID:15363845 ; - oboInOwl:hasDbXref UMLS:C1537552 ; oboInOwl:hasExactSynonym "LCN8", "lipocalin 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:138307 ; - skos:exactMatch HGNC_symbol:LCN8 ; + skos:exactMatch UMLS:C1537552, + HGNC:27038, + HGNC_symbol:LCN8 ; biolink:category biolink:Gene . OMIM:612903 a owl:Class ; rdfs:label "LCN9" ; IAO:0000142 PMID:15363845 ; - oboInOwl:hasDbXref UMLS:C1537553 ; oboInOwl:hasExactSynonym "LCN9", "lipocalin 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:392399 ; - skos:exactMatch HGNC_symbol:LCN9 ; + skos:exactMatch UMLS:C1537553, + HGNC:17442, + HGNC_symbol:LCN9 ; biolink:category biolink:Gene . OMIM:612904 a owl:Class ; rdfs:label "LCN10" ; IAO:0000142 PMID:15363845 ; - oboInOwl:hasDbXref UMLS:C1537554 ; oboInOwl:hasExactSynonym "LCN10", "lipocalin 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:414332 ; - skos:exactMatch HGNC_symbol:LCN10 ; + skos:exactMatch UMLS:C1537554, + HGNC:20892, + HGNC_symbol:LCN10 ; biolink:category biolink:Gene . OMIM:612905 a owl:Class ; rdfs:label "LCN12" ; IAO:0000142 PMID:15363845 ; - oboInOwl:hasDbXref UMLS:C1537555 ; oboInOwl:hasExactSynonym "LCN12", "lipocalin 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286256 ; - skos:exactMatch HGNC_symbol:LCN12 ; + skos:exactMatch UMLS:C1537555, + HGNC:28733, + HGNC_symbol:LCN12 ; biolink:category biolink:Gene . OMIM:612906 a owl:Class ; @@ -309998,12 +322691,13 @@ OMIM:612906 a owl:Class ; PMID:22019778, PMID:23162001, PMID:32703879 ; - oboInOwl:hasDbXref UMLS:C1419201 ; oboInOwl:hasExactSynonym "RAB32", "ras-associated protein rab32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10981 ; - skos:exactMatch HGNC_symbol:RAB32 ; + skos:exactMatch UMLS:C1419201, + HGNC:9772, + HGNC_symbol:RAB32 ; biolink:category biolink:Gene . OMIM:612907 a owl:Class ; @@ -310014,14 +322708,15 @@ OMIM:612907 a owl:Class ; PMID:26494905 ; RO:0002525 CHR:9606chr3p26.2 ; RO:0003303 OMIM:616084 ; - oboInOwl:hasDbXref UMLS:C1424916 ; oboInOwl:hasExactSynonym "TRNT1", "cca-adding trna nucleotidyltransferase, mitochondrial", "mitochondrial cca-adding trna nucleotidyltransferase", "trna nucleotidyltransferase, cca-adding, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51095 ; - skos:exactMatch HGNC_symbol:TRNT1 ; + skos:exactMatch UMLS:C1424916, + HGNC:17341, + HGNC_symbol:TRNT1 ; biolink:category biolink:Gene . OMIM:612908 a owl:Class ; @@ -310029,11 +322724,11 @@ OMIM:612908 a owl:Class ; IAO:0000142 PMID:10594734, PMID:15149499, PMID:9887343 ; - oboInOwl:hasDbXref UMLS:C1852127 ; oboInOwl:hasExactSynonym "PPKS2", "keratoderma, palmoplantar, striate form 2", "keratosis palmoplantaris striata 2", "striate palmoplantar keratoderma 2" ; + skos:exactMatch UMLS:C1852127 ; biolink:category biolink:Disease . OMIM:612909 a owl:Class ; @@ -310042,25 +322737,27 @@ OMIM:612909 a owl:Class ; PMID:12007787, PMID:16103095, PMID:17426708 ; - oboInOwl:hasDbXref UMLS:C1424353 ; oboInOwl:hasExactSynonym "RAB6C", "ras-associated protein rab6c", "wth3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84084 ; - skos:exactMatch HGNC_symbol:RAB6C ; + skos:exactMatch UMLS:C1424353, + HGNC:16525, + HGNC_symbol:RAB6C ; biolink:category biolink:Gene . OMIM:612910 a owl:Class ; rdfs:label "PHF23" ; IAO:0000142 PMID:17287853 ; - oboInOwl:hasDbXref UMLS:C1826581 ; oboInOwl:hasExactSynonym "PHF23", "phd finger protein 23", "phf23/nup98 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79142 ; - skos:exactMatch HGNC_symbol:PHF23 ; + skos:exactMatch UMLS:C1826581, + HGNC:28428, + HGNC_symbol:PHF23 ; biolink:category biolink:Gene . OMIM:612911 a owl:Class ; @@ -310070,13 +322767,14 @@ OMIM:612911 a owl:Class ; PMID:9349717 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:618240 ; - oboInOwl:hasDbXref UMLS:C1824156 ; oboInOwl:hasExactSynonym "NADH dehydrogenase (ubiquinone) complex i, assembly factor 3", "NADH dehydrogenase 1 alpha subcomplex, assembly factor 3", "NDUFAF3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25915 ; - skos:exactMatch HGNC_symbol:NDUFAF3 ; + skos:exactMatch UMLS:C1824156, + HGNC:29918, + HGNC_symbol:NDUFAF3 ; biolink:category biolink:Gene . OMIM:612912 a owl:Class ; @@ -310086,13 +322784,14 @@ OMIM:612912 a owl:Class ; PMID:19583955, PMID:7694637, PMID:9889281 ; - oboInOwl:hasDbXref UMLS:C1823357 ; oboInOwl:hasExactSynonym "TMEM97", "mac30", "transmembrane protein 97" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27346 ; - skos:exactMatch HGNC_symbol:TMEM97 ; + skos:exactMatch UMLS:C1823357, + HGNC:28106, + HGNC_symbol:TMEM97 ; biolink:category biolink:Gene . OMIM:612913 a owl:Class ; @@ -310100,7 +322799,6 @@ OMIM:612913 a owl:Class ; IAO:0000142 PMID:12439899, PMID:12687670, PMID:7531942 ; - oboInOwl:hasDbXref UMLS:C2752048 ; oboInOwl:hasExactSynonym "OFD11", "gabrielli syndrome", "ofds 11", @@ -310108,20 +322806,22 @@ OMIM:612913 a owl:Class ; "oral-facial-digital syndrome, iia 11", "orofaciodigital syndrome 11" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C2752048 ; biolink:category biolink:Disease . OMIM:612914 a owl:Class ; rdfs:label "MED29" ; IAO:0000142 PMID:14576168, PMID:15555573 ; - oboInOwl:hasDbXref UMLS:C1537429 ; oboInOwl:hasExactSynonym "MED29", "intersex, drosophila, homolog of", "intersex-like", "mediator complex subunit 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55588 ; - skos:exactMatch HGNC_symbol:MED29 ; + skos:exactMatch UMLS:C1537429, + HGNC:23074, + HGNC_symbol:MED29 ; biolink:category biolink:Gene . OMIM:612915 a owl:Class ; @@ -310129,28 +322829,29 @@ OMIM:612915 a owl:Class ; IAO:0000142 PMID:14576168, PMID:25446406, PMID:9933582 ; - oboInOwl:hasDbXref UMLS:C1540052 ; oboInOwl:hasExactSynonym "MED20", "mediator complex subunit 20", "trf-proximal, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9477 ; - skos:exactMatch HGNC_symbol:MED20 ; + skos:exactMatch UMLS:C1540052, + HGNC:16840, + HGNC_symbol:MED20 ; biolink:category biolink:Gene . OMIM:612916 a owl:Class ; rdfs:label "zechi-ceide syndrome" ; IAO:0000142 PMID:17907157 ; - oboInOwl:hasDbXref UMLS:C2752047 ; oboInOwl:hasExactSynonym "occipital atretic cephalocele, unusual facies, and large feet", - "zechi-ceide syndrome" . + "zechi-ceide syndrome" ; + skos:exactMatch UMLS:C2752047 . OMIM:612917 a owl:Class ; rdfs:label "giacheti syndrome" ; IAO:0000142 PMID:17907158 ; - oboInOwl:hasDbXref UMLS:C2752043 ; oboInOwl:hasExactSynonym "giacheti syndrome", - "marfanoid habitus and specific language and learning disabilities" . + "marfanoid habitus and specific language and learning disabilities" ; + skos:exactMatch UMLS:C2752043 . OMIM:612918 a owl:Class ; rdfs:label "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" ; @@ -310165,12 +322866,12 @@ OMIM:612918 a owl:Class ; PMID:29899452, PMID:8213925, PMID:9781913 ; - oboInOwl:hasDbXref UMLS:C2752042, - ORPHA:140944 ; oboInOwl:hasExactSynonym "clove syndrome", "cloves syndrome", "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi", "congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities" ; + skos:exactMatch UMLS:C2752042, + ORPHA:140944 ; biolink:category biolink:Disease . OMIM:612919 a owl:Class ; @@ -310178,13 +322879,14 @@ OMIM:612919 a owl:Class ; IAO:0000142 PMID:11762191, PMID:12566319, PMID:19528316 ; - oboInOwl:hasDbXref UMLS:C1416796 ; oboInOwl:hasExactSynonym "LANCL2", "lanc-like 2", "testis-specific adriamycin sensitivity protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55915 ; - skos:exactMatch HGNC_symbol:LANCL2 ; + skos:exactMatch UMLS:C1416796, + HGNC:6509, + HGNC_symbol:LANCL2 ; biolink:category biolink:Gene . OMIM:612920 a owl:Class ; @@ -310194,13 +322896,14 @@ OMIM:612920 a owl:Class ; PMID:27736875 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:618180 ; - oboInOwl:hasDbXref UMLS:C1412954 ; oboInOwl:hasExactSynonym "TSPEAR", "chromosome 21 open reading frame 29", "thrombospondin-type laminin g domain and ear repeats" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54084 ; - skos:exactMatch HGNC_symbol:TSPEAR ; + skos:exactMatch UMLS:C1412954, + HGNC:1268, + HGNC_symbol:TSPEAR ; biolink:category biolink:Gene . OMIM:612923 a owl:Class ; @@ -310208,11 +322911,11 @@ OMIM:612923 a owl:Class ; IAO:0000142 PMID:15173250, PMID:16386793, PMID:16621965 ; - oboInOwl:hasDbXref UMLS:C2752039 ; oboInOwl:hasExactSynonym "AHUS3", "ahus, susceptibility to, 3", "hemolytic uremic syndrome, atypical, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:235400 ; + skos:exactMatch UMLS:C2752039 ; biolink:category biolink:Disease . OMIM:612924 a owl:Class ; @@ -310220,45 +322923,47 @@ OMIM:612924 a owl:Class ; IAO:0000142 PMID:15661753, PMID:17182750, PMID:7452889 ; - oboInOwl:hasDbXref UMLS:C2752038 ; oboInOwl:hasExactSynonym "AHUS4", "ahus, susceptibility to, 4", "hemolytic uremic syndrome, atypical, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:235400 ; + skos:exactMatch UMLS:C2752038 ; biolink:category biolink:Disease . OMIM:612925 a owl:Class ; rdfs:label "hemolytic uremic syndrome, atypical, susceptibility to, 5" ; IAO:0000142 PMID:18796626 ; - oboInOwl:hasDbXref UMLS:C2752037 ; oboInOwl:hasExactSynonym "AHUS5", "ahus, susceptibility to, 5", "hemolytic uremic syndrome, atypical, susceptibility to, 5" ; rdfs:subClassOf OMIMPS:235400 ; + skos:exactMatch UMLS:C2752037 ; biolink:category biolink:Disease . OMIM:612927 a owl:Class ; rdfs:label "AVL9" ; IAO:0000142 PMID:17229886, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C2681178 ; oboInOwl:hasExactSynonym "AVL9", "avl9, s. cerevisiae, homolog of", "kiaa0241" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23080 ; - skos:exactMatch HGNC_symbol:AVL9 ; + skos:exactMatch UMLS:C2681178, + HGNC:28994, + HGNC_symbol:AVL9 ; biolink:category biolink:Gene . OMIM:612928 a owl:Class ; rdfs:label "ISOC2" ; IAO:0000142 PMID:17658461 ; - oboInOwl:hasDbXref UMLS:C1537427 ; oboInOwl:hasExactSynonym "ISOC2", "isochorismatase domain-containing 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79763 ; - skos:exactMatch HGNC_symbol:ISOC2 ; + skos:exactMatch UMLS:C1537427, + HGNC:26278, + HGNC_symbol:ISOC2 ; biolink:category biolink:Gene . OMIM:612930 a owl:Class ; @@ -310266,13 +322971,14 @@ OMIM:612930 a owl:Class ; IAO:0000142 PMID:16815647, PMID:19079291, PMID:21185755 ; - oboInOwl:hasDbXref UMLS:C2239817 ; oboInOwl:hasExactSynonym "PID1", "nyggf4", "phosphotyrosine interaction domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55022 ; - skos:exactMatch HGNC_symbol:PID1 ; + skos:exactMatch UMLS:C2239817, + HGNC:26084, + HGNC_symbol:PID1 ; biolink:category biolink:Gene . OMIM:612931 a owl:Class ; @@ -310288,14 +322994,15 @@ OMIM:612931 a owl:Class ; PMID:8447317 ; RO:0002525 CHR:9606chr7p13 ; RO:0003303 OMIM:261670 ; - oboInOwl:hasDbXref UMLS:C0268149, - UMLS:C1418502 ; oboInOwl:hasExactSynonym "PGAM2", "phosphoglycerate mutase 2", "phosphoglycerate mutase, muscle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5224 ; - skos:exactMatch HGNC_symbol:PGAM2 ; + skos:exactMatch UMLS:C0268149, + UMLS:C1418502, + HGNC:8889, + HGNC_symbol:PGAM2 ; biolink:category biolink:Gene . OMIM:612934 a owl:Class ; @@ -310309,7 +323016,6 @@ OMIM:612935 a owl:Class ; PMID:14506264, PMID:16257966, PMID:9199174 ; - oboInOwl:hasDbXref UMLS:C2681837 ; oboInOwl:hasExactSynonym "MPRIP", "kiaa0864", "mrip", @@ -310318,16 +323024,18 @@ OMIM:612935 a owl:Class ; "rip3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23164 ; - skos:exactMatch HGNC_symbol:MPRIP ; + skos:exactMatch UMLS:C2681837, + HGNC:30321, + HGNC_symbol:MPRIP ; biolink:category biolink:Gene . OMIM:612938 a owl:Class ; rdfs:label "growth retardation, developmental delay, and facial dysmorphism" ; IAO:0000142 PMID:19559399, PMID:26378117 ; - oboInOwl:hasDbXref UMLS:C2752001 ; oboInOwl:hasExactSynonym "GDFD", "growth retardation, developmental delay, and facial dysmorphism" ; + skos:exactMatch UMLS:C2752001 ; biolink:category biolink:Disease . OMIM:612939 a owl:Class ; @@ -310336,14 +323044,15 @@ OMIM:612939 a owl:Class ; PMID:12417338, PMID:15215316, PMID:9830037 ; - oboInOwl:hasDbXref UMLS:C2681594 ; oboInOwl:hasExactSynonym "HSPBP1", "heat-shock 70-kd protein-binding protein 1", "hsp70-binding protein 1", "hspa-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23640 ; - skos:exactMatch HGNC_symbol:HSPBP1 ; + skos:exactMatch UMLS:C2681594, + HGNC:24989, + HGNC_symbol:HSPBP1 ; biolink:category biolink:Gene . OMIM:612940 a owl:Class ; @@ -310355,11 +323064,11 @@ OMIM:612940 a owl:Class ; PMID:19401719, PMID:19576563, PMID:19648921 ; - oboInOwl:hasDbXref UMLS:C2751987 ; oboInOwl:hasExactSynonym "ARCL2B", "cutis laxa with progeroid features", "cutis laxa, autosomal recessive, iia 2b" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C2751987 ; biolink:category biolink:Disease . OMIM:612941 a owl:Class ; @@ -310368,7 +323077,6 @@ OMIM:612941 a owl:Class ; PMID:12964049, PMID:16391387, PMID:9700202 ; - oboInOwl:hasDbXref UMLS:C1826709 ; oboInOwl:hasExactSynonym "PRPF40A", "fbp11, mouse, homolog of", "formin-binding protein 3", @@ -310378,7 +323086,9 @@ OMIM:612941 a owl:Class ; "prpf40, s. cerevisiae, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55660 ; - skos:exactMatch HGNC_symbol:PRPF40A ; + skos:exactMatch UMLS:C1826709, + HGNC:16463, + HGNC_symbol:PRPF40A ; biolink:category biolink:Gene . OMIM:612942 a owl:Class ; @@ -310387,13 +323097,14 @@ OMIM:612942 a owl:Class ; PMID:15502842, PMID:17925226, PMID:8360141 ; - oboInOwl:hasDbXref UMLS:C1425389 ; oboInOwl:hasExactSynonym "RAB25", "rab11c", "ras-associated protein rab25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57111 ; - skos:exactMatch HGNC_symbol:RAB25 ; + skos:exactMatch UMLS:C1425389, + HGNC:18238, + HGNC_symbol:RAB25 ; biolink:category biolink:Gene . OMIM:612944 a owl:Class ; @@ -310406,57 +323117,59 @@ OMIM:612944 a owl:Class ; PMID:9192857 ; RO:0002525 CHR:9606chr6q27 ; RO:0003303 OMIM:612951 ; - oboInOwl:hasDbXref UMLS:C1427695 ; oboInOwl:hasExactSynonym "RNASET2", "ribonuclease t2", "rnase6pl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8635 ; - skos:exactMatch HGNC_symbol:RNASET2 ; + skos:exactMatch UMLS:C1427695, + HGNC:21686, + HGNC_symbol:RNASET2 ; biolink:category biolink:Gene . OMIM:612945 a owl:Class ; rdfs:label "RAB4B" ; IAO:0000142 PMID:12450215, PMID:8825628 ; - oboInOwl:hasDbXref UMLS:C1419211 ; oboInOwl:hasExactSynonym "RAB4B", "ras-associated protein rab4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53916 ; - skos:exactMatch HGNC_symbol:RAB4B ; + skos:exactMatch UMLS:C1419211, + HGNC:9782, + HGNC_symbol:RAB4B ; biolink:category biolink:Gene . OMIM:612946 a owl:Class ; rdfs:label "hadziselimovic syndrome" ; IAO:0000142 PMID:11152145, PMID:19373080 ; - oboInOwl:hasDbXref UMLS:C2751878 ; oboInOwl:hasExactSynonym "hadziselimovic syndrome", "microcephaly-faciocardioskeletal syndrome" ; + skos:exactMatch UMLS:C2751878 ; biolink:category biolink:Disease . OMIM:612947 a owl:Class ; rdfs:label "microcephaly, growth retardation, cataract, hearing loss, and unusual appearance" ; IAO:0000142 PMID:19474705 ; - oboInOwl:hasDbXref UMLS:C2751870 ; - oboInOwl:hasExactSynonym "microcephaly, growth retardation, cataract, hearing loss, and unusual appearance" . + oboInOwl:hasExactSynonym "microcephaly, growth retardation, cataract, hearing loss, and unusual appearance" ; + skos:exactMatch UMLS:C2751870 . OMIM:612948 a owl:Class ; rdfs:label "stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features" ; IAO:0000142 PMID:19451813 ; - oboInOwl:hasDbXref UMLS:C5193232 ; - oboInOwl:hasExactSynonym "stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features" . + oboInOwl:hasExactSynonym "stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features" ; + skos:exactMatch UMLS:C5193232 . OMIM:612950 a owl:Class ; rdfs:label "psoriasis 12, susceptibility to" ; IAO:0000142 PMID:18364390, PMID:22205304 ; RO:0002525 CHR:9606chr20q13 ; - oboInOwl:hasDbXref UMLS:C2751854 ; oboInOwl:hasExactSynonym "PSORS12", "psoriasis 12, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C2751854 ; biolink:category biolink:Disease . OMIM:612958 a owl:Class ; @@ -310466,8 +323179,6 @@ OMIM:612958 a owl:Class ; PMID:25044680 ; RO:0002525 CHR:9606chr17q23.3 ; RO:0003303 OMIM:619052 ; - oboInOwl:hasDbXref UMLS:C1824568, - UMLS:C5436689 ; oboInOwl:hasExactSynonym "TACO1", "coiled-coil domain-containing protein 44", "translational activator of cox 1", @@ -310475,7 +323186,10 @@ OMIM:612958 a owl:Class ; "translational activator of mtco1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51204 ; - skos:exactMatch HGNC_symbol:TACO1 ; + skos:exactMatch UMLS:C1824568, + UMLS:C5436689, + HGNC:24316, + HGNC_symbol:TACO1 ; biolink:category biolink:Gene . OMIM:612959 a owl:Class ; @@ -310484,52 +323198,56 @@ OMIM:612959 a owl:Class ; PMID:29107558 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:618013 ; - oboInOwl:hasDbXref UMLS:C1826778 ; oboInOwl:hasExactSynonym "ESRP1", "epithelial splicing regulatory protein 1", "rna-binding motif protein 35a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54845 ; - skos:exactMatch HGNC_symbol:ESRP1 ; + skos:exactMatch UMLS:C1826778, + HGNC:25966, + HGNC_symbol:ESRP1 ; biolink:category biolink:Gene . OMIM:612960 a owl:Class ; rdfs:label "ESRP2" ; IAO:0000142 PMID:19285943 ; - oboInOwl:hasDbXref UMLS:C1826779 ; oboInOwl:hasExactSynonym "ESRP2", "epithelial splicing regulatory protein 2", "rna-binding motif protein 35b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80004 ; - skos:exactMatch HGNC_symbol:ESRP2 ; + skos:exactMatch UMLS:C1826779, + HGNC:26152, + HGNC_symbol:ESRP2 ; biolink:category biolink:Gene . OMIM:612962 a owl:Class ; rdfs:label "DCTN5" ; IAO:0000142 PMID:10525537, PMID:15043994 ; - oboInOwl:hasDbXref UMLS:C1824893 ; oboInOwl:hasExactSynonym "DCTN5", "dynactin 5", "p25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84516 ; - skos:exactMatch HGNC_symbol:DCTN5 ; + skos:exactMatch UMLS:C1824893, + HGNC:24594, + HGNC_symbol:DCTN5 ; biolink:category biolink:Gene . OMIM:612963 a owl:Class ; rdfs:label "DCTN6" ; IAO:0000142 PMID:15043994, PMID:9168138 ; - oboInOwl:hasDbXref UMLS:C1424666 ; oboInOwl:hasExactSynonym "DCTN6", "dynactin 6", "p27", "ws3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10671 ; - skos:exactMatch HGNC_symbol:DCTN6 ; + skos:exactMatch UMLS:C1424666, + HGNC:16964, + HGNC_symbol:DCTN6 ; biolink:category biolink:Gene . OMIM:612964 a owl:Class ; @@ -310540,12 +323258,12 @@ OMIM:612964 a owl:Class ; PMID:23918653, PMID:26523528, PMID:28033660 ; - oboInOwl:hasDbXref UMLS:C2751825, - UMLS:C4479664 ; oboInOwl:hasExactSynonym "POF7", "adrenal insufficiency, nr5a1-related", "premature ovarian failure 7" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C2751825, + UMLS:C4479664 ; biolink:category biolink:Disease . OMIM:612965 a owl:Class ; @@ -310559,7 +323277,6 @@ OMIM:612965 a owl:Class ; PMID:19246354, PMID:23918653, PMID:8187173 ; - oboInOwl:hasDbXref UMLS:C3489793 ; oboInOwl:hasExactSynonym "46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure", "46,xy sex reversal 3", "46,xy sex reversal, partial or complete, nr5a1-related", @@ -310567,6 +323284,7 @@ OMIM:612965 a owl:Class ; "disorder of sex development, 46,xy, nr5a1-related", "sex reversal, xy, with or without adrenal failure" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C3489793 ; biolink:category biolink:Disease . OMIM:612966 a owl:Class ; @@ -310577,37 +323295,39 @@ OMIM:612966 a owl:Class ; PMID:16537905, PMID:20070612, PMID:8126105 ; - oboInOwl:hasDbXref UMLS:C1419193 ; oboInOwl:hasExactSynonym "RAB22A", "ras-associated protein rab22a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57403 ; - skos:exactMatch HGNC_symbol:RAB22A ; + skos:exactMatch UMLS:C1419193, + HGNC:9764, + HGNC_symbol:RAB22A ; biolink:category biolink:Gene . OMIM:612968 a owl:Class ; rdfs:label "cataract 34, multiple types" ; IAO:0000142 PMID:17893665, PMID:27218149 ; - oboInOwl:hasDbXref UMLS:C2751822 ; oboInOwl:hasExactSynonym "CTRCT34", "cataract 34, multiple types", "cataract 34, multiple types, with or without microcornea", "cataract, autosomal recessive congenital 3" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C2751822 ; biolink:category biolink:Disease . OMIM:612969 a owl:Class ; rdfs:label "TIGD7" ; IAO:0000142 PMID:15487591, PMID:8643651 ; - oboInOwl:hasDbXref UMLS:C1425451 ; oboInOwl:hasExactSynonym "TIGD7", "sancho", "tigger transposable element-derived gene 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91151 ; - skos:exactMatch HGNC_symbol:TIGD7 ; + skos:exactMatch UMLS:C1425451, + HGNC:18331, + HGNC_symbol:TIGD7 ; biolink:category biolink:Gene . OMIM:612971 a owl:Class ; @@ -310620,91 +323340,97 @@ OMIM:612971 a owl:Class ; PMID:29048736 ; RO:0002525 CHR:9606chr10q24.31 ; RO:0003303 OMIM:276901 ; - oboInOwl:hasDbXref UMLS:C1428568 ; oboInOwl:hasExactSynonym "PDZD7", "pdz domain-containing 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79955 ; - skos:exactMatch HGNC_symbol:PDZD7 ; + skos:exactMatch UMLS:C1428568, + HGNC:26257, + HGNC_symbol:PDZD7 ; biolink:category biolink:Gene . OMIM:612972 a owl:Class ; rdfs:label "TIGD1" ; IAO:0000142 PMID:15487591, PMID:8643651 ; - oboInOwl:hasDbXref UMLS:C1422724 ; oboInOwl:hasExactSynonym "TIGD1", "tigger transposable element-derived gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200765 ; - skos:exactMatch HGNC_symbol:TIGD1 ; + skos:exactMatch UMLS:C1422724, + HGNC:14523, + HGNC_symbol:TIGD1 ; biolink:category biolink:Gene . OMIM:612973 a owl:Class ; rdfs:label "TIGD2" ; IAO:0000142 PMID:15487591, PMID:8643651 ; - oboInOwl:hasDbXref UMLS:C1425453 ; oboInOwl:hasExactSynonym "TIGD2", "tigger transposable element-derived gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166815 ; - skos:exactMatch HGNC_symbol:TIGD2 ; + skos:exactMatch UMLS:C1425453, + HGNC:18333, + HGNC_symbol:TIGD2 ; biolink:category biolink:Gene . OMIM:612974 a owl:Class ; rdfs:label "DEPDC6" ; IAO:0000142 PMID:19446321 ; - oboInOwl:hasDbXref UMLS:C1427808 ; oboInOwl:hasExactSynonym "DEPDC6", "dep domain-containing mtor-interacting protein", "dep domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64798 ; - skos:exactMatch HGNC_symbol:DEPTOR ; + skos:exactMatch UMLS:C1427808, + HGNC:22953, + HGNC_symbol:DEPTOR ; biolink:category biolink:Gene . OMIM:612977 a owl:Class ; rdfs:label "DCUN1D4" ; IAO:0000142 PMID:15988528, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1824897 ; oboInOwl:hasExactSynonym "DCUN1D4", "dcn1 domain-containing protein 4", "kiaa0276" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23142 ; - skos:exactMatch HGNC_symbol:DCUN1D4 ; + skos:exactMatch UMLS:C1824897, + HGNC:28998, + HGNC_symbol:DCUN1D4 ; biolink:category biolink:Gene . OMIM:612978 a owl:Class ; rdfs:label "CBLN3" ; IAO:0000142 PMID:10964938, PMID:17331201 ; - oboInOwl:hasDbXref UMLS:C1426730 ; oboInOwl:hasExactSynonym "CBLN3", "precerebellin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643866 ; - skos:exactMatch HGNC_symbol:CBLN3 ; + skos:exactMatch UMLS:C1426730, + HGNC:20146, + HGNC_symbol:CBLN3 ; biolink:category biolink:Gene . OMIM:612979 a owl:Class ; rdfs:label "SYS1" ; IAO:0000142 PMID:15077113 ; - oboInOwl:hasDbXref UMLS:C1823165 ; oboInOwl:hasExactSynonym "SYS1", "sys1 golgi trafficking protein", "sys1 golgi-localized integral membrane protein, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90196 ; - skos:exactMatch HGNC_symbol:SYS1 ; + skos:exactMatch UMLS:C1823165, + HGNC:16162, + HGNC_symbol:SYS1 ; biolink:category biolink:Gene . OMIM:612980 a owl:Class ; rdfs:label "IMP3" ; IAO:0000142 PMID:12655004 ; - oboInOwl:hasDbXref UMLS:C1825597 ; oboInOwl:hasExactSynonym "IMP3", "brms2", "imp u3 small nucleolar ribonuclear protein 3", @@ -310712,20 +323438,23 @@ OMIM:612980 a owl:Class ; "mitochondrial ribosomal subunit component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55272 ; - skos:exactMatch HGNC_symbol:IMP3 ; + skos:exactMatch UMLS:C1825597, + HGNC:14497, + HGNC_symbol:IMP3 ; biolink:category biolink:Gene . OMIM:612981 a owl:Class ; rdfs:label "IMP4" ; IAO:0000142 PMID:12655004 ; - oboInOwl:hasDbXref UMLS:C1537406 ; oboInOwl:hasExactSynonym "IMP4", "bxdc4", "imp u3 small nucleolar ribonuclear protein 4", "imp4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92856 ; - skos:exactMatch HGNC_symbol:IMP4 ; + skos:exactMatch UMLS:C1537406, + HGNC:30856, + HGNC_symbol:IMP4 ; biolink:category biolink:Gene . OMIM:612982 a owl:Class ; @@ -310734,14 +323463,15 @@ OMIM:612982 a owl:Class ; PMID:18492109, PMID:22387901, PMID:23960236 ; - oboInOwl:hasDbXref UMLS:C1537846 ; oboInOwl:hasExactSynonym "MIR210", "micro RNA 210", "mirn210", "mirna210" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406992 ; - skos:exactMatch HGNC_symbol:MIR210 ; + skos:exactMatch UMLS:C1537846, + HGNC:31587, + HGNC_symbol:MIR210 ; biolink:category biolink:Gene . OMIM:612983 a owl:Class ; @@ -310749,14 +323479,15 @@ OMIM:612983 a owl:Class ; IAO:0000142 PMID:17589498, PMID:18212054, PMID:18328430 ; - oboInOwl:hasDbXref UMLS:C1537764 ; oboInOwl:hasExactSynonym "MIR106B", "micro RNA 106b", "mirn106b", "mirna106b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406900 ; - skos:exactMatch HGNC_symbol:MIR106B ; + skos:exactMatch UMLS:C1537764, + HGNC:31495, + HGNC_symbol:MIR106B ; biolink:category biolink:Gene . OMIM:612984 a owl:Class ; @@ -310765,14 +323496,15 @@ OMIM:612984 a owl:Class ; PMID:18212054, PMID:18328430, PMID:18974142 ; - oboInOwl:hasDbXref UMLS:C1537750 ; oboInOwl:hasExactSynonym "MIR93", "micro RNA 93", "mirn93", "mirna93" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407050 ; - skos:exactMatch HGNC_symbol:MIR93 ; + skos:exactMatch UMLS:C1537750, + HGNC:31645, + HGNC_symbol:MIR93 ; biolink:category biolink:Gene . OMIM:612985 a owl:Class ; @@ -310780,20 +323512,20 @@ OMIM:612985 a owl:Class ; IAO:0000142 PMID:10370142, PMID:26287746, PMID:9427753 ; - oboInOwl:hasDbXref UMLS:C1422592 ; oboInOwl:hasExactSynonym "IRX3", "iroquois homeobox protein 3", "irxb1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79191 ; - skos:exactMatch HGNC_symbol:IRX3 ; + skos:exactMatch UMLS:C1422592, + HGNC:14360, + HGNC_symbol:IRX3 ; biolink:category biolink:Gene . OMIM:612986 a owl:Class ; rdfs:label "EID3" ; IAO:0000142 PMID:15752197, PMID:15987788 ; - oboInOwl:hasDbXref UMLS:C1825042 ; oboInOwl:hasExactSynonym "EID3", "e1a-like inhibitor of differentiation 3", "ep300-interacting inhibitor of differentiation 3", @@ -310801,14 +323533,15 @@ OMIM:612986 a owl:Class ; "nse4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:493861 ; - skos:exactMatch HGNC_symbol:EID3 ; + skos:exactMatch UMLS:C1825042, + HGNC:32961, + HGNC_symbol:EID3 ; biolink:category biolink:Gene . OMIM:612987 a owl:Class ; rdfs:label "NSMCE4A" ; IAO:0000142 PMID:15752197, PMID:18086888 ; - oboInOwl:hasDbXref UMLS:C1826474 ; oboInOwl:hasExactSynonym "NSMCE4A", "chromosome 10 open reading frame 86", "non-smc element 4, s. cerevisiae, homolog of, a", @@ -310816,7 +323549,9 @@ OMIM:612987 a owl:Class ; "nse4 homolog a, smc5-smc6 complex component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54780 ; - skos:exactMatch HGNC_symbol:NSMCE4A ; + skos:exactMatch UMLS:C1826474, + HGNC:25935, + HGNC_symbol:NSMCE4A ; biolink:category biolink:Gene . OMIM:612988 a owl:Class ; @@ -310827,12 +323562,13 @@ OMIM:612988 a owl:Class ; PMID:23500070 ; RO:0002525 CHR:9606chr11q14.1 ; RO:0003303 OMIM:612989 ; - oboInOwl:hasDbXref UMLS:C1823384 ; oboInOwl:hasExactSynonym "TMEM126A", "transmembrane protein 126a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84233 ; - skos:exactMatch HGNC_symbol:TMEM126A ; + skos:exactMatch UMLS:C1823384, + HGNC:25382, + HGNC_symbol:TMEM126A ; biolink:category biolink:Gene . OMIM:612990 a owl:Class ; @@ -310848,15 +323584,16 @@ OMIM:612990 a owl:Class ; PMID:24218140 ; RO:0002525 CHR:9606chr20q11.21 ; RO:0003303 OMIM:614286 ; - oboInOwl:hasDbXref UMLS:C0796232, - UMLS:C1425445 ; oboInOwl:hasExactSynonym "ASXL1", "additional sex combs-like 1", "asxl transcriptional regulator 1", "kiaa0978" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171023 ; - skos:exactMatch HGNC_symbol:ASXL1 ; + skos:exactMatch UMLS:C0796232, + UMLS:C1425445, + HGNC:18318, + HGNC_symbol:ASXL1 ; biolink:category biolink:Gene . OMIM:612991 a owl:Class ; @@ -310870,38 +323607,41 @@ OMIM:612991 a owl:Class ; PMID:27693232 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:617190 ; - oboInOwl:hasDbXref UMLS:C1428272, - UMLS:C4310672 ; oboInOwl:hasExactSynonym "ASXL2", "additional sex combs-like 2", "asxl transcriptional regulator 2", "kiaa1685" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55252 ; - skos:exactMatch HGNC_symbol:ASXL2 ; + skos:exactMatch UMLS:C1428272, + UMLS:C4310672, + HGNC:23805, + HGNC_symbol:ASXL2 ; biolink:category biolink:Gene . OMIM:612992 a owl:Class ; rdfs:label "NBPF3" ; IAO:0000142 PMID:16079250, PMID:17391723 ; - oboInOwl:hasDbXref UMLS:C1826361 ; oboInOwl:hasExactSynonym "NBPF3", "neuroblastoma breakpoint family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84224 ; - skos:exactMatch HGNC_symbol:NBPF3 ; + skos:exactMatch UMLS:C1826361, + HGNC:25076, + HGNC_symbol:NBPF3 ; biolink:category biolink:Gene . OMIM:612993 a owl:Class ; rdfs:label "FILIP1L" ; IAO:0000142 PMID:18794120 ; - oboInOwl:hasDbXref UMLS:C1825299 ; oboInOwl:hasExactSynonym "FILIP1L", "filamin a-interacting protein 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11259 ; - skos:exactMatch HGNC_symbol:FILIP1L ; + skos:exactMatch UMLS:C1825299, + HGNC:24589, + HGNC_symbol:FILIP1L ; biolink:category biolink:Gene . OMIM:612994 a owl:Class ; @@ -310912,18 +323652,18 @@ OMIM:612994 a owl:Class ; PMID:8647132 ; RO:0002525 CHR:9606chr4p15.33 ; RO:0003303 OMIM:615374 ; - oboInOwl:hasDbXref UMLS:C1419197 ; oboInOwl:hasExactSynonym "RAB28", "ras-associated protein 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9364 ; - skos:exactMatch HGNC_symbol:RAB28 ; + skos:exactMatch UMLS:C1419197, + HGNC:9768, + HGNC_symbol:RAB28 ; biolink:category biolink:Gene . OMIM:612995 a owl:Class ; rdfs:label "TRV-CAC1-2" ; IAO:0000142 PMID:2766931 ; - oboInOwl:hasDbXref UMLS:C1421188 ; oboInOwl:hasExactSynonym "TRV-CAC1-2", "transfer RNA valine (cac) 1-2", "transfer RNA valine 2", @@ -310932,13 +323672,14 @@ OMIM:612995 a owl:Class ; "trna-val (anticodon cac) 1-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7240 ; - skos:exactMatch HGNC_symbol:TRV-CAC1-2 ; + skos:exactMatch UMLS:C1421188, + HGNC:12354, + HGNC_symbol:TRV-CAC1-2 ; biolink:category biolink:Gene . OMIM:612996 a owl:Class ; rdfs:label "TRK-CTT2-3" ; IAO:0000142 PMID:2766931 ; - oboInOwl:hasDbXref UMLS:C1823498 ; oboInOwl:hasExactSynonym "TRK-CTT2-3", "transfer RNA lysine (ctt) 2-4", "transfer RNA lysine 2", @@ -310947,17 +323688,19 @@ OMIM:612996 a owl:Class ; "trna-lys (anticodon ctt) 2-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:790966 ; - skos:exactMatch HGNC_symbol:TRK-CTT2-3 ; + skos:exactMatch UMLS:C1823498, + HGNC:33199, + HGNC_symbol:TRK-CTT2-3 ; biolink:category biolink:Gene . OMIM:612998 a owl:Class ; rdfs:label "emery-dreifuss muscular dystrophy 4, autosomal dominant" ; IAO:0000142 PMID:17761684 ; - oboInOwl:hasDbXref UMLS:C2751807 ; oboInOwl:hasExactSynonym "EDMD4", "emery-dreifuss muscular dystrophy 4 with variable features", "emery-dreifuss muscular dystrophy 4, autosomal dominant" ; rdfs:subClassOf OMIMPS:310300 ; + skos:exactMatch UMLS:C2751807 ; biolink:category biolink:Disease . OMIM:613001 a owl:Class ; @@ -310981,18 +323724,18 @@ OMIM:613001 a owl:Class ; PMID:8313622, PMID:8588580, PMID:9009364 ; - oboInOwl:hasDbXref UMLS:C0406612 ; oboInOwl:hasExactSynonym "ECCL", "encephalocraniocutaneous lipomatosis" ; + skos:exactMatch UMLS:C0406612 ; biolink:category biolink:Disease . OMIM:613003 a owl:Class ; rdfs:label "attention deficit-hyperactivity disorder, susceptibility to, 7" ; IAO:0000142 PMID:16116490, PMID:18347598 ; - oboInOwl:hasDbXref UMLS:C2751802 ; oboInOwl:hasExactSynonym "adhd7", "attention deficit-hyperactivity disorder, susceptibility to, 7" ; + skos:exactMatch UMLS:C2751802 ; biolink:category biolink:Disease . OMIM:613004 a owl:Class ; @@ -311079,24 +323822,25 @@ OMIM:613004 a owl:Class ; PMID:9931325 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:617435 ; - oboInOwl:hasDbXref UMLS:C0020179, - UMLS:C1415504, - UMLS:C4479491 ; oboInOwl:hasExactSynonym "HTT", "hd gene", "huntingtin", "it15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3064 ; - skos:exactMatch HGNC_symbol:HTT ; + skos:exactMatch UMLS:C0020179, + UMLS:C1415504, + UMLS:C4479491, + HGNC:4851, + HGNC_symbol:HTT ; biolink:category biolink:Gene . OMIM:613005 a owl:Class ; rdfs:label "santos syndrome" ; IAO:0000142 PMID:19012338 ; - oboInOwl:hasDbXref UMLS:C2751698 ; oboInOwl:hasExactSynonym "fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome", - "santos syndrome" . + "santos syndrome" ; + skos:exactMatch UMLS:C2751698 . OMIM:613009 a owl:Class ; rdfs:label "SEPSECS" ; @@ -311108,14 +323852,15 @@ OMIM:613009 a owl:Class ; PMID:25044680 ; RO:0002525 CHR:9606chr4p15.2 ; RO:0003303 OMIM:613811 ; - oboInOwl:hasDbXref UMLS:C2239920 ; oboInOwl:hasExactSynonym "SEPSECS", "liver pancreas antigen", "o-phosphoserine trna-selenocysteine trna synthase", "soluble liver antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51091 ; - skos:exactMatch HGNC_symbol:SEPSECS ; + skos:exactMatch UMLS:C2239920, + HGNC:30605, + HGNC_symbol:SEPSECS ; biolink:category biolink:Gene . OMIM:613010 a owl:Class ; @@ -311123,13 +323868,14 @@ OMIM:613010 a owl:Class ; IAO:0000142 PMID:12623014, PMID:14580199, PMID:19641494 ; - oboInOwl:hasDbXref UMLS:C1538827 ; oboInOwl:hasExactSynonym "RFK", "flavokinase", "riboflavin kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55312 ; - skos:exactMatch HGNC_symbol:RFK ; + skos:exactMatch UMLS:C1538827, + HGNC:30324, + HGNC_symbol:RFK ; biolink:category biolink:Gene . OMIM:613012 a owl:Class ; @@ -311138,13 +323884,14 @@ OMIM:613012 a owl:Class ; PMID:6107814 ; RO:0002525 CHR:9606chr3q21.3 ; RO:0003303 OMIM:276880 ; - oboInOwl:hasDbXref UMLS:C1540164 ; oboInOwl:hasExactSynonym "UROC1", "urocanase", "urocanase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131669 ; - skos:exactMatch HGNC_symbol:UROC1 ; + skos:exactMatch UMLS:C1540164, + HGNC:26444, + HGNC_symbol:UROC1 ; biolink:category biolink:Gene . OMIM:613018 a owl:Class ; @@ -311161,14 +323908,15 @@ OMIM:613018 a owl:Class ; PMID:6147198 ; RO:0002525 CHR:9606chr16q22.2 ; RO:0003303 OMIM:276600 ; - oboInOwl:hasDbXref UMLS:C0268487, - UMLS:C1420590 ; oboInOwl:hasExactSynonym "TAT", "tat, soluble", "tyrosine aminotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6898 ; - skos:exactMatch HGNC_symbol:TAT ; + skos:exactMatch UMLS:C0268487, + UMLS:C1420590, + HGNC:11573, + HGNC_symbol:TAT ; biolink:category biolink:Gene . OMIM:613019 a owl:Class ; @@ -311179,13 +323927,14 @@ OMIM:613019 a owl:Class ; PMID:6286462 ; RO:0002525 CHR:9606chr11q12.2 ; RO:0003303 OMIM:601650 ; - oboInOwl:hasDbXref UMLS:C2240298 ; oboInOwl:hasExactSynonym "SDHAF2", "succinate dehydrogenase 5", "succinate dehydrogenase complex assembly factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54949 ; - skos:exactMatch HGNC_symbol:SDHAF2 ; + skos:exactMatch UMLS:C2240298, + HGNC:26034, + HGNC_symbol:SDHAF2 ; biolink:category biolink:Gene . OMIM:613020 a owl:Class ; @@ -311197,11 +323946,11 @@ OMIM:613021 a owl:Class ; IAO:0000142 PMID:19017867, PMID:19462466, PMID:9654209 ; - oboInOwl:hasDbXref UMLS:C2751666 ; oboInOwl:hasExactSynonym "BESC2", "bronchiectasis with or without elevated sweat chloride 2", "cystic fibrosis-like syndrome" ; rdfs:subClassOf OMIMPS:211400 ; + skos:exactMatch UMLS:C2751666 ; biolink:category biolink:Disease . OMIM:613022 a owl:Class ; @@ -311213,27 +323962,29 @@ OMIM:613022 a owl:Class ; PMID:8020988 ; RO:0002525 CHR:9606chr7p13 ; RO:0003303 OMIM:203740 ; - oboInOwl:hasDbXref UMLS:C1417943 ; oboInOwl:hasExactSynonym "OGDH", "alpha-ketoglutarate dehydrogenase", "e1k", "oxoglutarate dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4967 ; - skos:exactMatch HGNC_symbol:OGDH ; + skos:exactMatch UMLS:C1417943, + HGNC:8124, + HGNC_symbol:OGDH ; biolink:category biolink:Gene . OMIM:613023 a owl:Class ; rdfs:label "CEP170" ; IAO:0000142 PMID:15616186, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1824721 ; oboInOwl:hasExactSynonym "CEP170", "centrosomal protein, 170-kd", "kiaa0470" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9859 ; - skos:exactMatch HGNC_symbol:CEP170 ; + skos:exactMatch UMLS:C1824721, + HGNC:28920, + HGNC_symbol:CEP170 ; biolink:category biolink:Gene . OMIM:613026 a owl:Class ; @@ -311248,27 +323999,27 @@ OMIM:613026 a owl:Class ; PMID:27992417, PMID:9632168 ; RO:0002525 CHR:9606chr19q13.11 ; - oboInOwl:hasDbXref UMLS:C4311048 ; oboInOwl:hasExactSynonym "chromosome 19q13.11 deletion syndrome, distal" ; + skos:exactMatch UMLS:C4311048 ; biolink:category biolink:Disease . OMIM:613028 a owl:Class ; rdfs:label "glioma susceptibility 2" ; IAO:0000142 PMID:12085208 ; - oboInOwl:hasDbXref UMLS:C2751642 ; oboInOwl:hasExactSynonym "GLM2", "glioma susceptibility 2" ; rdfs:subClassOf OMIMPS:137800 ; + skos:exactMatch UMLS:C2751642 ; biolink:category biolink:Disease . OMIM:613029 a owl:Class ; rdfs:label "glioma susceptibility 3" ; IAO:0000142 PMID:15689453, PMID:16825431 ; - oboInOwl:hasDbXref UMLS:C2751641 ; oboInOwl:hasExactSynonym "GLM3", "glioma susceptibility 3" ; rdfs:subClassOf OMIMPS:137800 ; + skos:exactMatch UMLS:C2751641 ; biolink:category biolink:Disease . OMIM:613034 a owl:Class ; @@ -311279,9 +324030,9 @@ OMIM:613035 a owl:Class ; rdfs:label "hearing loss, noise-induced, susceptibility to" ; IAO:0000142 PMID:16823764, PMID:18813331 ; - oboInOwl:hasDbXref UMLS:C2751629 ; oboInOwl:hasExactSynonym "NIHL", "hearing loss, noise-induced, susceptibility to" ; + skos:exactMatch UMLS:C2751629 ; biolink:category biolink:Disease . OMIM:613036 a owl:Class ; @@ -311292,14 +324043,15 @@ OMIM:613036 a owl:Class ; PMID:8590280 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:213200 ; - oboInOwl:hasDbXref UMLS:C1425693 ; oboInOwl:hasExactSynonym "PMPCA", "kiaa0123", "mitochondrial processing peptidase-alpha", "peptidase, mitochondrial processing, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23203 ; - skos:exactMatch HGNC_symbol:PMPCA ; + skos:exactMatch UMLS:C1425693, + HGNC:18667, + HGNC_symbol:PMPCA ; biolink:category biolink:Gene . OMIM:613037 a owl:Class ; @@ -311311,12 +324063,13 @@ OMIM:613037 a owl:Class ; PMID:23150559 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:610156 ; - oboInOwl:hasDbXref UMLS:C1427565 ; oboInOwl:hasExactSynonym "INPP5E", "inositol polyphosphate-5-phosphatase, 72-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56623 ; - skos:exactMatch HGNC_symbol:INPP5E ; + skos:exactMatch UMLS:C1427565, + HGNC:21474, + HGNC_symbol:INPP5E ; biolink:category biolink:Gene . OMIM:613039 a owl:Class ; @@ -311326,198 +324079,222 @@ OMIM:613039 a owl:Class ; PMID:19666485, PMID:19701453, PMID:20335658 ; - oboInOwl:hasDbXref UMLS:C1413380 ; oboInOwl:hasExactSynonym "CHD1L", "amplified 1n liver cancer 1", "chromodomain helicase dna-binding protein 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9557 ; - skos:exactMatch HGNC_symbol:CHD1L ; + skos:exactMatch UMLS:C1413380, + HGNC:1916, + HGNC_symbol:CHD1L ; biolink:category biolink:Gene . OMIM:613040 a owl:Class ; rdfs:label "CCDC26" ; IAO:0000142 PMID:16449964 ; - oboInOwl:hasDbXref UMLS:C1824551 ; oboInOwl:hasExactSynonym "CCDC26", "coiled-coil domain-containing protein 26", "retinoic acid modulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137196 ; - skos:exactMatch HGNC_symbol:CCDC26 ; + skos:exactMatch UMLS:C1824551, + HGNC:28416, + HGNC_symbol:CCDC26 ; biolink:category biolink:Gene . OMIM:613041 a owl:Class ; rdfs:label "FAM90A1" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825182 ; oboInOwl:hasExactSynonym "FAM90A1", "family with sequence similarity 90, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55138 ; - skos:exactMatch HGNC_symbol:FAM90A1 ; + skos:exactMatch UMLS:C1825182, + HGNC:25526, + HGNC_symbol:FAM90A1 ; biolink:category biolink:Gene . OMIM:613042 a owl:Class ; rdfs:label "FAM90A3" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825184 ; oboInOwl:hasExactSynonym "FAM90A3", "fam90a copy 2", "family with sequence similarity 90, member a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389611 ; - skos:exactMatch HGNC_symbol:FAM90A3P ; + skos:exactMatch UMLS:C1825184, + HGNC:32251, + HGNC_symbol:FAM90A3P ; biolink:category biolink:Gene . OMIM:613043 a owl:Class ; rdfs:label "FAM90A5" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825186 ; oboInOwl:hasExactSynonym "FAM90A5", "fam90a copy 5", "family with sequence similarity 90, member a5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441315 ; - skos:exactMatch HGNC_symbol:FAM90A5P ; + skos:exactMatch UMLS:C1825186, + HGNC:32253, + HGNC_symbol:FAM90A5P ; biolink:category biolink:Gene . OMIM:613044 a owl:Class ; rdfs:label "FAM90A7" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825188 ; oboInOwl:hasExactSynonym "FAM90A7", "fam90a copy 8", "family with sequence similarity 90, member a7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441317 ; + skos:exactMatch UMLS:C1825188, + HGNC:32255, + HGNC_symbol:FAM90A7 ; biolink:category biolink:Gene . OMIM:613045 a owl:Class ; rdfs:label "FAM90A8" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825189 ; oboInOwl:hasExactSynonym "FAM90A8", "fam90a copy 15", "family with sequence similarity 90, member a8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441324 ; + skos:exactMatch UMLS:C1825189, + HGNC:32256, + HGNC_symbol:FAM90A8 ; biolink:category biolink:Gene . OMIM:613046 a owl:Class ; rdfs:label "FAM90A9" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825190 ; oboInOwl:hasExactSynonym "FAM90A9", "fam90a copy 18", "family with sequence similarity 90, member a9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441327 ; + skos:exactMatch UMLS:C1825190, + HGNC:32257, + HGNC_symbol:FAM90A9 ; biolink:category biolink:Gene . OMIM:613047 a owl:Class ; rdfs:label "FAM90A10" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825191 ; oboInOwl:hasExactSynonym "FAM90A10", "fam90a copy 19", "family with sequence similarity 90, member a10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441328 ; + skos:exactMatch UMLS:C1825191, + HGNC:32258, + HGNC_symbol:FAM90A10 ; biolink:category biolink:Gene . OMIM:613048 a owl:Class ; rdfs:label "FAM90A12" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825193 ; oboInOwl:hasExactSynonym "FAM90A12", "fam90a copy 22", "family with sequence similarity 90, member a12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645879 ; - skos:exactMatch HGNC_symbol:FAM90A12P ; + skos:exactMatch UMLS:C1825193, + HGNC:32260, + HGNC_symbol:FAM90A12P ; biolink:category biolink:Gene . OMIM:613049 a owl:Class ; rdfs:label "FAM90A13" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825194 ; oboInOwl:hasExactSynonym "FAM90A13", "fam90a copy 4", "family with sequence similarity 90, member a13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441314 ; - skos:exactMatch HGNC_symbol:FAM90A13P ; + skos:exactMatch UMLS:C1825194, + HGNC:32261, + HGNC_symbol:FAM90A13P ; biolink:category biolink:Gene . OMIM:613050 a owl:Class ; rdfs:label "FAM90A14" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825195 ; oboInOwl:hasExactSynonym "FAM90A14", "fam90a copy 12", "family with sequence similarity 90, member a14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645651 ; + skos:exactMatch UMLS:C1825195, + HGNC:32262, + HGNC_symbol:FAM90A14 ; biolink:category biolink:Gene . OMIM:613051 a owl:Class ; rdfs:label "FAM90A15" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825196 ; oboInOwl:hasExactSynonym "FAM90A15", "fam90a copy 1", "family with sequence similarity 90, member a15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389630 ; - skos:exactMatch HGNC_symbol:FAM90A15P ; + skos:exactMatch UMLS:C1825196, + HGNC:32263, + HGNC_symbol:FAM90A15P ; biolink:category biolink:Gene . OMIM:613052 a owl:Class ; rdfs:label "FAM90A18" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825199 ; oboInOwl:hasExactSynonym "FAM90A18", "fam90a copy 13", "family with sequence similarity 90, member a18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441326 ; + skos:exactMatch UMLS:C1825199, + HGNC:32266, + HGNC_symbol:FAM90A18 ; biolink:category biolink:Gene . OMIM:613053 a owl:Class ; rdfs:label "FAM90A19" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825200 ; oboInOwl:hasExactSynonym "FAM90A19", "fam90a copy 17", "family with sequence similarity 90, member a19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728753 ; + skos:exactMatch UMLS:C1825200, + HGNC:32267, + HGNC_symbol:FAM90A19 ; biolink:category biolink:Gene . OMIM:613054 a owl:Class ; rdfs:label "FAM90A20" ; IAO:0000142 PMID:17684299 ; - oboInOwl:hasDbXref UMLS:C1825201 ; oboInOwl:hasExactSynonym "FAM90A20", "fam90a copy 6", "family with sequence similarity 90, member a20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728430 ; - skos:exactMatch HGNC_symbol:FAM90A20P ; + skos:exactMatch UMLS:C1825201, + HGNC:32268, + HGNC_symbol:FAM90A20P ; biolink:category biolink:Gene . OMIM:613056 a owl:Class ; rdfs:label "LUC7L2" ; IAO:0000142 PMID:17656373 ; - oboInOwl:hasDbXref UMLS:C1427644 ; oboInOwl:hasExactSynonym "LUC7L2", "luc7, s. cerevisiae, homolog of, 2", "luc7-like 2", "luc7-like 2 pre-mrna splicing factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51631 ; - skos:exactMatch HGNC_symbol:LUC7L2 ; + skos:exactMatch UMLS:C1427644, + HGNC:21608, + HGNC_symbol:LUC7L2 ; biolink:category biolink:Gene . OMIM:613057 a owl:Class ; @@ -311525,14 +324302,15 @@ OMIM:613057 a owl:Class ; IAO:0000142 PMID:19487573, PMID:19701194, PMID:21642990 ; - oboInOwl:hasDbXref UMLS:C1537727 ; oboInOwl:hasExactSynonym "MIR26A2", "micro RNA 26a2", "mirn26a2", "mirna26a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407016 ; - skos:exactMatch HGNC_symbol:MIR26A2 ; + skos:exactMatch UMLS:C1537727, + HGNC:31611, + HGNC_symbol:MIR26A2 ; biolink:category biolink:Gene . OMIM:613066 a owl:Class ; @@ -311540,26 +324318,28 @@ OMIM:613066 a owl:Class ; IAO:0000142 PMID:11549286, PMID:11972344, PMID:15339927 ; - oboInOwl:hasDbXref UMLS:C1424500 ; oboInOwl:hasExactSynonym "PKNOX2", "pbx-regulating protein 2", "pbx/knotted 1 homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63876 ; - skos:exactMatch HGNC_symbol:PKNOX2 ; + skos:exactMatch UMLS:C1424500, + HGNC:16714, + HGNC_symbol:PKNOX2 ; biolink:category biolink:Gene . OMIM:613069 a owl:Class ; rdfs:label "PHF10" ; IAO:0000142 PMID:11827455, PMID:19561591 ; - oboInOwl:hasDbXref UMLS:C1425396 ; oboInOwl:hasExactSynonym "PHF10", "brg1-associated factor, 45-kd, a", "phd finger protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55274 ; - skos:exactMatch HGNC_symbol:PHF10 ; + skos:exactMatch UMLS:C1425396, + HGNC:18250, + HGNC_symbol:PHF10 ; biolink:category biolink:Gene . OMIM:613070 a owl:Class ; @@ -311567,20 +324347,20 @@ OMIM:613070 a owl:Class ; IAO:0000142 PMID:12408186, PMID:19732863, PMID:21931168 ; - oboInOwl:hasDbXref UMLS:C3278664 ; oboInOwl:hasExactSynonym "LFIT", "liver failure, infantile, transient" ; + skos:exactMatch UMLS:C3278664 ; biolink:category biolink:Disease . OMIM:613071 a owl:Class ; rdfs:label "bronchiectasis with or without elevated sweat chloride 3" ; IAO:0000142 PMID:18507830, PMID:19017867 ; - oboInOwl:hasDbXref UMLS:C2751324 ; oboInOwl:hasExactSynonym "BESC3", "bronchiectasis with or without elevated sweat chloride 3", "cystic fibrosis-like syndrome" ; rdfs:subClassOf OMIMPS:211400 ; + skos:exactMatch UMLS:C2751324 ; biolink:category biolink:Disease . OMIM:613072 a owl:Class ; @@ -311591,12 +324371,13 @@ OMIM:613072 a owl:Class ; PMID:22341973 ; RO:0002525 CHR:9606chr18q21.1 ; RO:0003303 OMIM:613079 ; - oboInOwl:hasDbXref UMLS:C1537583 ; oboInOwl:hasExactSynonym "LOXHD1", "lipoxygenase homology domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125336 ; - skos:exactMatch HGNC_symbol:LOXHD1 ; + skos:exactMatch UMLS:C1537583, + HGNC:26521, + HGNC_symbol:LOXHD1 ; biolink:category biolink:Gene . OMIM:613077 a owl:Class ; @@ -311604,12 +324385,12 @@ OMIM:613077 a owl:Class ; IAO:0000142 PMID:19664747, PMID:21646632, PMID:21951382 ; - oboInOwl:hasDbXref UMLS:C2751319, - ORPHA:254892 ; oboInOwl:hasExactSynonym "PEOA5", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5", "progressive external ophthalmoplegia, autosomal dominant 5" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C2751319, + ORPHA:254892 ; biolink:category biolink:Disease . OMIM:613081 a owl:Class ; @@ -311617,7 +324398,6 @@ OMIM:613081 a owl:Class ; IAO:0000142 PMID:15620353, PMID:19407342, PMID:19727073 ; - oboInOwl:hasDbXref UMLS:C1427624 ; oboInOwl:hasExactSynonym "KDM1B", "amine oxidase, flavin-containing, 1", "lysine demethylase 1b", @@ -311625,7 +324405,9 @@ OMIM:613081 a owl:Class ; "lysine-specific demethylase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221656 ; - skos:exactMatch HGNC_symbol:KDM1B ; + skos:exactMatch UMLS:C1427624, + HGNC:21577, + HGNC_symbol:KDM1B ; biolink:category biolink:Gene . OMIM:613082 a owl:Class ; @@ -311633,14 +324415,15 @@ OMIM:613082 a owl:Class ; IAO:0000142 PMID:15677451, PMID:20887894, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1825505 ; oboInOwl:hasExactSynonym "ATP2C2", "atpase, ca(2+)-transporting, iia 2c, member 2", "kiaa0703", "secretory pathway ca(2+) atpase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9914 ; - skos:exactMatch HGNC_symbol:ATP2C2 ; + skos:exactMatch UMLS:C1825505, + HGNC:29103, + HGNC_symbol:ATP2C2 ; biolink:category biolink:Gene . OMIM:613083 a owl:Class ; @@ -311648,7 +324431,6 @@ OMIM:613083 a owl:Class ; IAO:0000142 PMID:19196968, PMID:20835226, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1421774 ; oboInOwl:hasExactSynonym "LTN1", "kiaa0714", "listerin e3 ubiquitin protein ligase 1", @@ -311656,7 +324438,9 @@ OMIM:613083 a owl:Class ; "ring finger protein 160" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26046 ; - skos:exactMatch HGNC_symbol:LTN1 ; + skos:exactMatch UMLS:C1421774, + HGNC:13082, + HGNC_symbol:LTN1 ; biolink:category biolink:Gene . OMIM:613084 a owl:Class ; @@ -311673,13 +324457,14 @@ OMIM:613084 a owl:Class ; PMID:9373037 ; RO:0002525 CHR:9606chr2p25.3 ; RO:0003303 OMIM:616521 ; - oboInOwl:hasDbXref UMLS:C1417585 ; oboInOwl:hasExactSynonym "MYT1L", "kiaa1106", "myelin transcription factor 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23040 ; - skos:exactMatch HGNC_symbol:MYT1L ; + skos:exactMatch UMLS:C1417585, + HGNC:7623, + HGNC_symbol:MYT1L ; biolink:category biolink:Gene . OMIM:613086 a owl:Class ; @@ -311688,19 +324473,19 @@ OMIM:613086 a owl:Class ; PMID:19361779, PMID:19656777, PMID:21081970 ; - oboInOwl:hasDbXref UMLS:C2751316 ; oboInOwl:hasExactSynonym "GLC3D", "glaucoma 3, primary congenital, d" ; + skos:exactMatch UMLS:C2751316 ; biolink:category biolink:Disease . OMIM:613089 a owl:Class ; rdfs:label "capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" ; IAO:0000142 PMID:18798326, PMID:29446767 ; - oboInOwl:hasDbXref UMLS:C2751313 ; oboInOwl:hasExactSynonym "capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth", "clapo", "lopez-gutierrez syndrome" ; + skos:exactMatch UMLS:C2751313 ; biolink:category biolink:Disease . OMIM:613092 a owl:Class ; @@ -311708,21 +324493,21 @@ OMIM:613092 a owl:Class ; IAO:0000142 PMID:12634862, PMID:16164624, PMID:19664745 ; - oboInOwl:hasDbXref UMLS:C2751310 ; oboInOwl:hasExactSynonym "ADTKD4", "early-onset hyperuricemia, anemia, and progressive kidney failure", "hyperuricemic nephropathy, familial juvenile, 2", "tubulointerstitial kidney disease, autosomal dominant, 4" ; rdfs:subClassOf OMIMPS:162000 ; + skos:exactMatch UMLS:C2751310 ; biolink:category biolink:Disease . OMIM:613094 a owl:Class ; rdfs:label "microphthalmia, isolated 4" ; IAO:0000142 PMID:19129173 ; - oboInOwl:hasDbXref UMLS:C2751307 ; oboInOwl:hasExactSynonym "MCOP4", "microphthalmia, isolated 4" ; rdfs:subClassOf OMIMPS:251600 ; + skos:exactMatch UMLS:C2751307 ; biolink:category biolink:Disease . OMIM:613097 a owl:Class ; @@ -311732,8 +324517,8 @@ OMIM:613097 a owl:Class ; OMIM:613098 a owl:Class ; rdfs:label "increased analgesia from kappa-opioid receptor agonist, female-specific" ; IAO:0000142 PMID:12663858 ; - oboInOwl:hasDbXref UMLS:C2751296 ; oboInOwl:hasExactSynonym "increased analgesia from kappa-opioid receptor agonist, female-specific" ; + skos:exactMatch UMLS:C2751296 ; biolink:category biolink:Disease . OMIM:613099 a owl:Class ; @@ -311744,10 +324529,10 @@ OMIM:613099 a owl:Class ; PMID:16809487, PMID:19578364, PMID:8894704 ; - oboInOwl:hasDbXref UMLS:C2751295 ; oboInOwl:hasExactSynonym "CMM5", "melanoma, cutaneous malignant, susceptibility to, 5" ; rdfs:subClassOf OMIMPS:155600 ; + skos:exactMatch UMLS:C2751295 ; biolink:category biolink:Disease . OMIM:613103 a owl:Class ; @@ -311755,27 +324540,29 @@ OMIM:613103 a owl:Class ; IAO:0000142 PMID:11347906, PMID:19737518, PMID:23055939 ; - oboInOwl:hasDbXref UMLS:C1825702 ; oboInOwl:hasExactSynonym "SRRM4", "kiaa1853", "neural-specific sr-related protein, 100-kd", "serine/arginine repetitive matrix protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84530 ; - skos:exactMatch HGNC_symbol:SRRM4 ; + skos:exactMatch UMLS:C1825702, + HGNC:29389, + HGNC_symbol:SRRM4 ; biolink:category biolink:Gene . OMIM:613104 a owl:Class ; rdfs:label "CACFD1" ; IAO:0000142 PMID:19737521 ; - oboInOwl:hasDbXref UMLS:C1413035 ; oboInOwl:hasExactSynonym "CACFD1", "calcium channel flower-domain containing protein 1", "chromosome 9 open reading frame 7", "flower, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11094 ; - skos:exactMatch HGNC_symbol:CACFD1 ; + skos:exactMatch UMLS:C1413035, + HGNC:1365, + HGNC_symbol:CACFD1 ; biolink:category biolink:Gene . OMIM:613105 a owl:Class ; @@ -311791,21 +324578,21 @@ OMIM:613105 a owl:Class ; PMID:8644804, PMID:9010868, PMID:9443872 ; - oboInOwl:hasDbXref UMLS:C2751290 ; oboInOwl:hasExactSynonym "CACD2", "choroidal dystrophy, central areolar 2", "macular dystrophy, progressive" ; rdfs:subClassOf OMIMPS:215500 ; + skos:exactMatch UMLS:C2751290 ; biolink:category biolink:Disease . OMIM:613108 a owl:Class ; rdfs:label "candidiasis, familial, 4" ; IAO:0000142 PMID:19864674 ; - oboInOwl:hasDbXref UMLS:C0341024 ; oboInOwl:hasExactSynonym "CANDF4", "candidiasis, familial chronic mucocutaneous", "candidiasis, familial, 4" ; rdfs:subClassOf OMIMPS:114580 ; + skos:exactMatch UMLS:C0341024 ; biolink:category biolink:Disease . OMIM:613109 a owl:Class ; @@ -311832,12 +324619,13 @@ OMIM:613109 a owl:Class ; PMID:9223328 ; RO:0002525 CHR:9606chr5q33.1 ; RO:0003303 OMIM:272750 ; - oboInOwl:hasDbXref UMLS:C1415127 ; oboInOwl:hasExactSynonym "GM2A", "gm2 activator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2760 ; - skos:exactMatch HGNC_symbol:GM2A ; + skos:exactMatch UMLS:C1415127, + HGNC:4367, + HGNC_symbol:GM2A ; biolink:category biolink:Gene . OMIM:613110 a owl:Class ; @@ -311846,13 +324634,14 @@ OMIM:613110 a owl:Class ; PMID:11920613, PMID:17031575, PMID:18836209 ; - oboInOwl:hasDbXref UMLS:C1412799 ; oboInOwl:hasExactSynonym "BLCAP", "bladder cancer-associated protein", "bladder cancer-associated, 10-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10904 ; - skos:exactMatch HGNC_symbol:BLCAP ; + skos:exactMatch UMLS:C1412799, + HGNC:1055, + HGNC_symbol:BLCAP ; biolink:category biolink:Gene . OMIM:613111 a owl:Class ; @@ -311879,7 +324668,6 @@ OMIM:613111 a owl:Class ; PMID:9603439 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:256540 ; - oboInOwl:hasDbXref UMLS:C1824812 ; oboInOwl:hasExactSynonym "CTSA", "beta-galactosidase 2", "beta-galactosidase protective protein", @@ -311889,7 +324677,9 @@ OMIM:613111 a owl:Class ; "protective protein/cathepsin a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5476 ; - skos:exactMatch HGNC_symbol:CTSA ; + skos:exactMatch UMLS:C1824812, + HGNC:9251, + HGNC_symbol:CTSA ; biolink:category biolink:Gene . OMIM:613113 a owl:Class ; @@ -312003,19 +324793,20 @@ OMIM:613113 a owl:Class ; PMID:9668168 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:193520 ; - oboInOwl:hasDbXref UMLS:C0027831, - UMLS:C0085113, - UMLS:C0349639, - UMLS:C0553586, - UMLS:C1834235, - UMLS:C2931482, - UMLS:C4225458 ; oboInOwl:hasExactSynonym "NF1", "neurofibromin", "neurofibromin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4763 ; - skos:exactMatch HGNC_symbol:NF1 ; + skos:exactMatch UMLS:C0027831, + UMLS:C0085113, + UMLS:C0349639, + UMLS:C0553586, + UMLS:C1834235, + UMLS:C2931482, + UMLS:C4225458, + HGNC:7765, + HGNC_symbol:NF1 ; biolink:category biolink:Gene . OMIM:613114 a owl:Class ; @@ -312026,14 +324817,15 @@ OMIM:613114 a owl:Class ; PMID:26040720 ; RO:0002525 CHR:9606chr5p15.1 ; RO:0003303 OMIM:613115 ; - oboInOwl:hasDbXref UMLS:C2239425 ; oboInOwl:hasExactSynonym "RETREG1", "family with sequence similarity 134, member B", "jk1", "reticulophagy regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54463 ; - skos:exactMatch HGNC_symbol:RETREG1 ; + skos:exactMatch UMLS:C2239425, + HGNC:25964, + HGNC_symbol:RETREG1 ; biolink:category biolink:Gene . OMIM:613117 a owl:Class ; @@ -312041,14 +324833,15 @@ OMIM:613117 a owl:Class ; IAO:0000142 PMID:10792466, PMID:18202102, PMID:8674114 ; - oboInOwl:hasDbXref UMLS:C1822955 ; oboInOwl:hasExactSynonym "SNORD50A", "rna, u50 small nucleolar", "small nucleolar rna, c/d box, 50a", "snorna, u50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26799 ; - skos:exactMatch HGNC_symbol:SNORD50A ; + skos:exactMatch UMLS:C1822955, + HGNC:10200, + HGNC_symbol:SNORD50A ; biolink:category biolink:Gene . OMIM:613121 a owl:Class ; @@ -312061,23 +324854,24 @@ OMIM:613121 a owl:Class ; PMID:9832551 ; RO:0002525 CHR:9606chr1p31.1 ; RO:0003303 OMIM:613876 ; - oboInOwl:hasDbXref UMLS:C1428874 ; oboInOwl:hasExactSynonym "NEXN", "nexilin f-actin-binding protein", "nexilin, rat, homolog of", "nexilin-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91624 ; - skos:exactMatch HGNC_symbol:NEXN ; + skos:exactMatch UMLS:C1428874, + HGNC:29557, + HGNC_symbol:NEXN ; biolink:category biolink:Gene . OMIM:613122 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1cc" ; IAO:0000142 PMID:19881492 ; - oboInOwl:hasDbXref UMLS:C2751084 ; oboInOwl:hasExactSynonym "CMD1CC", "cardiomyopathy, dilated, 1cc" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C2751084 ; biolink:category biolink:Disease . OMIM:613123 a owl:Class ; @@ -312085,27 +324879,28 @@ OMIM:613123 a owl:Class ; IAO:0000142 PMID:15655131, PMID:19165230, PMID:22840528 ; - oboInOwl:hasDbXref UMLS:C2751083 ; oboInOwl:hasExactSynonym "BRGDA8", "brugada syndrome 8" ; rdfs:subClassOf OMIMPS:601144 ; + skos:exactMatch UMLS:C2751083 ; biolink:category biolink:Disease . OMIM:613124 a owl:Class ; rdfs:label "hydrops fetalis, nonimmune, with gracile bones and dysmorphism" ; IAO:0000142 PMID:18478587 ; - oboInOwl:hasDbXref UMLS:C5193233 ; - oboInOwl:hasExactSynonym "hydrops fetalis, nonimmune, with gracile bones and dysmorphism" . + oboInOwl:hasExactSynonym "hydrops fetalis, nonimmune, with gracile bones and dysmorphism" ; + skos:exactMatch UMLS:C5193233 . OMIM:613125 a owl:Class ; rdfs:label "NRIP3" ; IAO:0000142 PMID:17043644 ; - oboInOwl:hasDbXref UMLS:C1412866 ; oboInOwl:hasExactSynonym "NRIP3", "nuclear receptor-interacting protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56675 ; - skos:exactMatch HGNC_symbol:NRIP3 ; + skos:exactMatch UMLS:C1412866, + HGNC:1167, + HGNC_symbol:NRIP3 ; biolink:category biolink:Gene . OMIM:613126 a owl:Class ; @@ -312113,13 +324908,14 @@ OMIM:613126 a owl:Class ; IAO:0000142 PMID:12082536, PMID:12427559, PMID:18291097 ; - oboInOwl:hasDbXref UMLS:C1826730 ; oboInOwl:hasExactSynonym "PSRC1", "dda3, mouse, homolog of", "proline/serine-rich coiled-coil protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84722 ; - skos:exactMatch HGNC_symbol:PSRC1 ; + skos:exactMatch UMLS:C1826730, + HGNC:24472, + HGNC_symbol:PSRC1 ; biolink:category biolink:Gene . OMIM:613127 a owl:Class ; @@ -312128,14 +324924,15 @@ OMIM:613127 a owl:Class ; PMID:14660436, PMID:15094188, PMID:17483092 ; - oboInOwl:hasDbXref UMLS:C1428354 ; oboInOwl:hasExactSynonym "CHRDL2", "breast tumor novel factor 1", "chl2", "chordin-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25884 ; - skos:exactMatch HGNC_symbol:CHRDL2 ; + skos:exactMatch UMLS:C1428354, + HGNC:24168, + HGNC_symbol:CHRDL2 ; biolink:category biolink:Gene . OMIM:613128 a owl:Class ; @@ -312148,15 +324945,16 @@ OMIM:613128 a owl:Class ; PMID:32499435 ; RO:0002525 CHR:9606chr10q24.33 ; RO:0003303 OMIM:617341 ; - oboInOwl:hasDbXref UMLS:C1428560, - UMLS:C4479220 ; oboInOwl:hasExactSynonym "STN1", "oligonucleotide/oligosaccharide-binding fold-containing protein 1", "stn1, cst complex subunit", "stn1, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79991 ; - skos:exactMatch HGNC_symbol:STN1 ; + skos:exactMatch UMLS:C1428560, + UMLS:C4479220, + HGNC:26200, + HGNC_symbol:STN1 ; biolink:category biolink:Gene . OMIM:613129 a owl:Class ; @@ -312174,15 +324972,16 @@ OMIM:613129 a owl:Class ; PMID:32499435 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:612199 ; - oboInOwl:hasDbXref UMLS:C1824460, - UMLS:C4552029 ; oboInOwl:hasExactSynonym "CTC1", "alpha accessory factor, 132-kd subunit", "chromosome 17 open reading frame 68", "conserved telomere maintenance component 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80169 ; - skos:exactMatch HGNC_symbol:CTC1 ; + skos:exactMatch UMLS:C1824460, + UMLS:C4552029, + HGNC:26169, + HGNC_symbol:CTC1 ; biolink:category biolink:Gene . OMIM:613130 a owl:Class ; @@ -312190,14 +324989,15 @@ OMIM:613130 a owl:Class ; IAO:0000142 PMID:19854130, PMID:22763445, PMID:32499435 ; - oboInOwl:hasDbXref UMLS:C2751072 ; oboInOwl:hasExactSynonym "TEN1", "chromosome 17 open reading frame 106", "ten1, cst complex subunit", "ten1, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100134934 ; - skos:exactMatch HGNC_symbol:TEN1 ; + skos:exactMatch UMLS:C2751072, + HGNC:37242, + HGNC_symbol:TEN1 ; biolink:category biolink:Gene . OMIM:613131 a owl:Class ; @@ -312205,52 +325005,56 @@ OMIM:613131 a owl:Class ; IAO:0000142 PMID:19252524, PMID:19833767, PMID:24899310 ; - oboInOwl:hasDbXref UMLS:C1826027 ; oboInOwl:hasExactSynonym "MIR449A", "micro RNA 449a", "mirn449a", "mirna449a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:554213 ; - skos:exactMatch HGNC_symbol:MIR449A ; + skos:exactMatch UMLS:C1826027, + HGNC:27645, + HGNC_symbol:MIR449A ; biolink:category biolink:Gene . OMIM:613132 a owl:Class ; rdfs:label "MIR449B" ; IAO:0000142 PMID:19833767, PMID:24899310 ; - oboInOwl:hasDbXref UMLS:C1826028 ; oboInOwl:hasExactSynonym "MIR449B", "micro RNA 449b", "mirn449b", "mirna449b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693123 ; - skos:exactMatch HGNC_symbol:MIR449B ; + skos:exactMatch UMLS:C1826028, + HGNC:32794, + HGNC_symbol:MIR449B ; biolink:category biolink:Gene . OMIM:613133 a owl:Class ; rdfs:label "TSPAN2" ; IAO:0000142 PMID:10719184, PMID:9714763 ; - oboInOwl:hasDbXref UMLS:C1540082 ; oboInOwl:hasExactSynonym "TSPAN2", "new est tetraspan 3", "tetraspanin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10100 ; - skos:exactMatch HGNC_symbol:TSPAN2 ; + skos:exactMatch UMLS:C1540082, + HGNC:20659, + HGNC_symbol:TSPAN2 ; biolink:category biolink:Gene . OMIM:613134 a owl:Class ; rdfs:label "TSPAN3" ; IAO:0000142 PMID:9714763 ; - oboInOwl:hasDbXref UMLS:C1540083 ; oboInOwl:hasExactSynonym "TSPAN3", "tetraspanin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10099 ; - skos:exactMatch HGNC_symbol:TSPAN3 ; + skos:exactMatch UMLS:C1540083, + HGNC:17752, + HGNC_symbol:TSPAN3 ; biolink:category biolink:Gene . OMIM:613135 a owl:Class ; @@ -312259,38 +325063,40 @@ OMIM:613135 a owl:Class ; PMID:21112253, PMID:21777827, PMID:22279524 ; - oboInOwl:hasDbXref UMLS:C2751067, - UMLS:C4747621 ; oboInOwl:hasExactSynonym "PKDYS1", "dopamine transporter deficiency syndrome", "parkinsonism-dystonia 1, infantile-onset", "pkdys" ; rdfs:subClassOf OMIMPS:613135 ; + skos:exactMatch UMLS:C2751067, + UMLS:C4747621 ; biolink:category biolink:Disease . OMIM:613136 a owl:Class ; rdfs:label "TSPAN5" ; IAO:0000142 PMID:10719184, PMID:9714763 ; - oboInOwl:hasDbXref UMLS:C1540085 ; oboInOwl:hasExactSynonym "TSPAN5", "new est tetraspan 4", "tetraspanin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10098 ; - skos:exactMatch HGNC_symbol:TSPAN5 ; + skos:exactMatch UMLS:C1540085, + HGNC:17753, + HGNC_symbol:TSPAN5 ; biolink:category biolink:Gene . OMIM:613137 a owl:Class ; rdfs:label "TSPAN9" ; IAO:0000142 PMID:10719184 ; - oboInOwl:hasDbXref UMLS:C1540089 ; oboInOwl:hasExactSynonym "TSPAN9", "new est tetraspan 5", "tetraspanin 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10867 ; - skos:exactMatch HGNC_symbol:TSPAN9 ; + skos:exactMatch UMLS:C1540089, + HGNC:21640, + HGNC_symbol:TSPAN9 ; biolink:category biolink:Gene . OMIM:613138 a owl:Class ; @@ -312304,44 +325110,46 @@ OMIM:613138 a owl:Class ; PMID:22427576 ; RO:0002525 CHR:9606chr7q31.31 ; RO:0003303 OMIM:613310 ; - oboInOwl:hasDbXref UMLS:C1540092 ; oboInOwl:hasExactSynonym "TSPAN12", "new est tetraspan 2", "tetraspanin 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23554 ; - skos:exactMatch HGNC_symbol:TSPAN12 ; + skos:exactMatch UMLS:C1540092, + HGNC:21641, + HGNC_symbol:TSPAN12 ; biolink:category biolink:Gene . OMIM:613139 a owl:Class ; rdfs:label "TSPAN13" ; IAO:0000142 PMID:10719184 ; - oboInOwl:hasDbXref UMLS:C1540093 ; oboInOwl:hasExactSynonym "TSPAN13", "new est tetraspan 6", "tetraspanin 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27075 ; - skos:exactMatch HGNC_symbol:TSPAN13 ; + skos:exactMatch UMLS:C1540093, + HGNC:21643, + HGNC_symbol:TSPAN13 ; biolink:category biolink:Gene . OMIM:613140 a owl:Class ; rdfs:label "TSPAN15" ; IAO:0000142 PMID:10719184 ; - oboInOwl:hasDbXref UMLS:C1540095 ; oboInOwl:hasExactSynonym "TSPAN15", "new est tetraspan 7", "tetraspanin 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23555 ; - skos:exactMatch HGNC_symbol:TSPAN15 ; + skos:exactMatch UMLS:C1540095, + HGNC:23298, + HGNC_symbol:TSPAN15 ; biolink:category biolink:Gene . OMIM:613141 a owl:Class ; rdfs:label "DTX2" ; IAO:0000142 PMID:10819331, PMID:12670957 ; - oboInOwl:hasDbXref UMLS:C1423876 ; oboInOwl:hasExactSynonym "DTX2", "deltex e3 ubiquitin ligase 2", "deltex, drosophila, homolog of, 2", @@ -312349,19 +325157,22 @@ OMIM:613141 a owl:Class ; "ring finger protein 58" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113878 ; - skos:exactMatch HGNC_symbol:DTX2 ; + skos:exactMatch UMLS:C1423876, + HGNC:15973, + HGNC_symbol:DTX2 ; biolink:category biolink:Gene . OMIM:613142 a owl:Class ; rdfs:label "DTX3" ; IAO:0000142 PMID:12670957 ; - oboInOwl:hasDbXref UMLS:C1428375 ; oboInOwl:hasExactSynonym "DTX3", "deltex e3 ubiquitin ligase 3", "deltex, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196403 ; - skos:exactMatch HGNC_symbol:DTX3 ; + skos:exactMatch UMLS:C1428375, + HGNC:24457, + HGNC_symbol:DTX3 ; biolink:category biolink:Gene . OMIM:613143 a owl:Class ; @@ -312369,14 +325180,15 @@ OMIM:613143 a owl:Class ; IAO:0000142 PMID:12670957, PMID:16809771, PMID:19818714 ; - oboInOwl:hasDbXref UMLS:C1539313 ; oboInOwl:hasExactSynonym "B lymphoma- and bal-associated protein", "DTX3L", "deltex e3 ubiquitin ligase 3l", "dtx3-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151636 ; - skos:exactMatch HGNC_symbol:DTX3L ; + skos:exactMatch UMLS:C1539313, + HGNC:30323, + HGNC_symbol:DTX3L ; biolink:category biolink:Gene . OMIM:613146 a owl:Class ; @@ -312394,7 +325206,6 @@ OMIM:613146 a owl:Class ; PMID:8446173 ; RO:0002525 CHR:9606chr15q25.1 ; RO:0003303 OMIM:614303 ; - oboInOwl:hasDbXref UMLS:C1537818 ; oboInOwl:hasExactSynonym "MIR184", "micro RNA 184", "micro RNA 184*", @@ -312402,21 +325213,24 @@ OMIM:613146 a owl:Class ; "mirna184" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406960 ; - skos:exactMatch HGNC_symbol:MIR184 ; + skos:exactMatch UMLS:C1537818, + HGNC:31555, + HGNC_symbol:MIR184 ; biolink:category biolink:Gene . OMIM:613147 a owl:Class ; rdfs:label "MIR205" ; IAO:0000142 PMID:18376396, PMID:19033458 ; - oboInOwl:hasDbXref UMLS:C1537843 ; oboInOwl:hasExactSynonym "MIR205", "micro RNA 205", "mirn205", "mirna205" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406988 ; - skos:exactMatch HGNC_symbol:MIR205 ; + skos:exactMatch UMLS:C1537843, + HGNC:31583, + HGNC_symbol:MIR205 ; biolink:category biolink:Gene . OMIM:613149 a owl:Class ; @@ -312426,13 +325240,14 @@ OMIM:613149 a owl:Class ; PMID:21532571, PMID:30108282, PMID:9622062 ; - oboInOwl:hasDbXref UMLS:C2681352 ; oboInOwl:hasExactSynonym "CDKN2BAS", "antisense noncoding RNA 1n the ink4 locus", "cdkn2b antisense RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100048912 ; - skos:exactMatch HGNC_symbol:CDKN2B-AS1 ; + skos:exactMatch UMLS:C2681352, + HGNC:34341, + HGNC_symbol:CDKN2B-AS1 ; biolink:category biolink:Gene . OMIM:613150 a owl:Class ; @@ -312443,37 +325258,37 @@ OMIM:613150 a owl:Class ; PMID:19067344, PMID:19138766, PMID:19299310 ; - oboInOwl:hasDbXref UMLS:C3150411, - ORPHA:588, - ORPHA:899 ; oboInOwl:hasExactSynonym "MDDGA2", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 2", "walker-warburg syndrome or muscle-eye-brain disease, pomt2-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3150411, + ORPHA:588, + ORPHA:899 ; biolink:category biolink:Disease . OMIM:613151 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3" ; IAO:0000142 PMID:19067344, PMID:19299310 ; - oboInOwl:hasDbXref UMLS:C3150412, - ORPHA:370959 ; oboInOwl:hasExactSynonym "MDDGB3", "muscular dystrophy, congenital, pomgnt1-related", "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3" ; rdfs:subClassOf OMIMPS:613155 ; + skos:exactMatch UMLS:C3150412, + ORPHA:370959 ; biolink:category biolink:Disease . OMIM:613152 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4" ; IAO:0000142 PMID:17878207, PMID:19299310 ; - oboInOwl:hasDbXref UMLS:C2751052, - ORPHA:370980 ; oboInOwl:hasExactSynonym "MDDGB4", "muscular dystrophy, congenital, fktn-related", "muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4" ; rdfs:subClassOf OMIMPS:613155 ; + skos:exactMatch UMLS:C2751052, + ORPHA:370980 ; biolink:category biolink:Disease . OMIM:613153 a owl:Class ; @@ -312481,13 +325296,13 @@ OMIM:613153 a owl:Class ; IAO:0000142 PMID:11320179, PMID:15121789, PMID:20236121 ; - oboInOwl:hasDbXref UMLS:C3150413, - ORPHA:588, - ORPHA:899 ; oboInOwl:hasExactSynonym "MDDGA5", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5", "walker-warburg syndrome or muscle-eye-brain disease, fkrp-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3150413, + ORPHA:588, + ORPHA:899 ; biolink:category biolink:Disease . OMIM:613154 a owl:Class ; @@ -312496,13 +325311,13 @@ OMIM:613154 a owl:Class ; PMID:17878207, PMID:19067344, PMID:19299310 ; - oboInOwl:hasDbXref UMLS:C3150414, - ORPHA:588, - ORPHA:899 ; oboInOwl:hasExactSynonym "MDDGA6", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6", "walker-warburg syndrome or muscle-eye-brain disease, large-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3150414, + ORPHA:588, + ORPHA:899 ; biolink:category biolink:Disease . OMIM:613155 a owl:Class ; @@ -312517,13 +325332,13 @@ OMIM:613155 a owl:Class ; PMID:22549409, PMID:8879654, PMID:9631397 ; - oboInOwl:hasDbXref UMLS:C3150415, - ORPHA:370959, - ORPHA:370968 ; oboInOwl:hasExactSynonym "MDDGB1", "muscular dystrophy, congenital, pomt1-related", "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual impairment), iia b, 1" ; rdfs:subClassOf OMIMPS:613155 ; + skos:exactMatch UMLS:C3150415, + ORPHA:370959, + ORPHA:370968 ; biolink:category biolink:Disease . OMIM:613156 a owl:Class ; @@ -312533,13 +325348,13 @@ OMIM:613156 a owl:Class ; PMID:19138766, PMID:19299310, PMID:24002165 ; - oboInOwl:hasDbXref UMLS:C3150416, - ORPHA:370959, - ORPHA:370968 ; oboInOwl:hasExactSynonym "MDDGB2", "muscular dystrophy, congenital, pomt2-related", "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2" ; rdfs:subClassOf OMIMPS:613155 ; + skos:exactMatch UMLS:C3150416, + ORPHA:370959, + ORPHA:370968 ; biolink:category biolink:Disease . OMIM:613157 a owl:Class ; @@ -312547,8 +325362,6 @@ OMIM:613157 a owl:Class ; IAO:0000142 PMID:17878207, PMID:18195152, PMID:22419172 ; - oboInOwl:hasDbXref UMLS:C3150417, - ORPHA:206564 ; oboInOwl:hasExactSynonym "MDDGC3", "muscular dystrophy, limb-girdle, iia 2o", "muscular dystrophy, limb-girdle, autosomal recessive 15", @@ -312556,6 +325369,8 @@ OMIM:613157 a owl:Class ; "muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related" ; rdfs:subClassOf OMIMPS:253600, OMIMPS:609308 ; + skos:exactMatch UMLS:C3150417, + ORPHA:206564 ; biolink:category biolink:Disease . OMIM:613160 a owl:Class ; @@ -312669,13 +325484,14 @@ OMIM:613160 a owl:Class ; PMID:9689113 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:613554 ; - oboInOwl:hasDbXref UMLS:C1336938 ; oboInOwl:hasExactSynonym "VWF", "factor viii-von willebrand factor", "von willebrand factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7450 ; - skos:exactMatch HGNC_symbol:VWF ; + skos:exactMatch UMLS:C1336938, + HGNC:12726, + HGNC_symbol:VWF ; biolink:category biolink:Gene . OMIM:613165 a owl:Class ; @@ -312694,16 +325510,17 @@ OMIM:613165 a owl:Class ; PMID:31988067 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:617719 ; - oboInOwl:hasDbXref UMLS:C1538435, - UMLS:C4012146, - UMLS:C4017299, - UMLS:C4540251 ; oboInOwl:hasExactSynonym "CANT1", "calcium-activated nucleotidase 1", "soluble calcium-activated nucleotidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124583 ; - skos:exactMatch HGNC_symbol:CANT1 ; + skos:exactMatch UMLS:C1538435, + UMLS:C4012146, + UMLS:C4017299, + UMLS:C4540251, + HGNC:19721, + HGNC_symbol:CANT1 ; biolink:category biolink:Gene . OMIM:613166 a owl:Class ; @@ -312711,27 +325528,29 @@ OMIM:613166 a owl:Class ; IAO:0000142 PMID:15611072, PMID:16684769, PMID:19342486 ; - oboInOwl:hasDbXref UMLS:C1539220 ; oboInOwl:hasExactSynonym "DCLK2", "camk-like creb regulatory kinase 2", "dck2", "doublecortin-like kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166614 ; - skos:exactMatch HGNC_symbol:DCLK2 ; + skos:exactMatch UMLS:C1539220, + HGNC:19002, + HGNC_symbol:DCLK2 ; biolink:category biolink:Gene . OMIM:613167 a owl:Class ; rdfs:label "DCLK3" ; IAO:0000142 PMID:16684769 ; - oboInOwl:hasDbXref UMLS:C1539221 ; oboInOwl:hasExactSynonym "DCLK3", "click-related protein", "dck3", "doublecortin-like kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85443 ; - skos:exactMatch HGNC_symbol:DCLK3 ; + skos:exactMatch UMLS:C1539221, + HGNC:19005, + HGNC_symbol:DCLK3 ; biolink:category biolink:Gene . OMIM:613168 a owl:Class ; @@ -312752,14 +325571,15 @@ OMIM:613168 a owl:Class ; PMID:8484741 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:262850 ; - oboInOwl:hasDbXref UMLS:C1418648 ; oboInOwl:hasExactSynonym "SERPINF2", "alpha-2-antiplasmin", "alpha-2-plasmin inhibitor", "serpin peptidase inhibitor, clade f, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5345 ; - skos:exactMatch HGNC_symbol:SERPINF2 ; + skos:exactMatch UMLS:C1418648, + HGNC:9075, + HGNC_symbol:SERPINF2 ; biolink:category biolink:Gene . OMIM:613169 a owl:Class ; @@ -312767,25 +325587,27 @@ OMIM:613169 a owl:Class ; IAO:0000142 PMID:19706467 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:236000 ; - oboInOwl:hasDbXref UMLS:C1825723 ; oboInOwl:hasExactSynonym "KLHDC8B", "kelch domain-containing protein 8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200942 ; - skos:exactMatch HGNC_symbol:KLHDC8B ; + skos:exactMatch UMLS:C1825723, + HGNC:28557, + HGNC_symbol:KLHDC8B ; biolink:category biolink:Gene . OMIM:613170 a owl:Class ; rdfs:label "TSPAN1" ; IAO:0000142 PMID:10719184, PMID:9714763 ; - oboInOwl:hasDbXref UMLS:C1540081 ; oboInOwl:hasExactSynonym "TSPAN1", "new est tetraspan 1", "tetraspanin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10103 ; - skos:exactMatch HGNC_symbol:TSPAN1 ; + skos:exactMatch UMLS:C1540081, + HGNC:20657, + HGNC_symbol:TSPAN1 ; biolink:category biolink:Gene . OMIM:613171 a owl:Class ; @@ -312794,32 +325616,34 @@ OMIM:613171 a owl:Class ; PMID:20590677 ; RO:0002525 CHR:9606chr10q25.2 ; RO:0003303 OMIM:613172 ; - oboInOwl:hasDbXref UMLS:C1428654 ; oboInOwl:hasExactSynonym "RBM20", "rna-binding motif protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282996 ; - skos:exactMatch HGNC_symbol:RBM20 ; + skos:exactMatch UMLS:C1428654, + HGNC:27424, + HGNC_symbol:RBM20 ; biolink:category biolink:Gene . OMIM:613173 a owl:Class ; rdfs:label "NEGR1" ; IAO:0000142 PMID:10075727 ; - oboInOwl:hasDbXref UMLS:C1424887 ; oboInOwl:hasExactSynonym "NEGR1", "kindred of iglon: kilon", "neuronal growth regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257194 ; - skos:exactMatch HGNC_symbol:NEGR1 ; + skos:exactMatch UMLS:C1424887, + HGNC:17302, + HGNC_symbol:NEGR1 ; biolink:category biolink:Gene . OMIM:613174 a owl:Class ; rdfs:label "chromosome 5p13 duplication syndrome" ; IAO:0000142 PMID:19052029 ; RO:0002525 CHR:9606chr5p13 ; - oboInOwl:hasDbXref UMLS:C2750805 ; oboInOwl:hasExactSynonym "chromosome 5p13 duplication syndrome" ; + skos:exactMatch UMLS:C2750805 ; biolink:category biolink:Disease . OMIM:613175 a owl:Class ; @@ -312828,13 +325652,14 @@ OMIM:613175 a owl:Class ; PMID:33242396 ; RO:0002525 CHR:9606chr17q22 ; RO:0003303 OMIM:619268 ; - oboInOwl:hasDbXref UMLS:C1824463 ; oboInOwl:hasExactSynonym "SMG8", "chromosome 17 open reading frame 71", "smg8 nonsense-mediated mrna decay factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55181 ; - skos:exactMatch HGNC_symbol:SMG8 ; + skos:exactMatch UMLS:C1824463, + HGNC:25551, + HGNC_symbol:SMG8 ; biolink:category biolink:Gene . OMIM:613176 a owl:Class ; @@ -312843,45 +325668,48 @@ OMIM:613176 a owl:Class ; PMID:27018474 ; RO:0002525 CHR:9606chr19q13.31 ; RO:0003303 OMIM:616920 ; - oboInOwl:hasDbXref UMLS:C2240325 ; oboInOwl:hasExactSynonym "SMG9", "chromosome 19 open reading frame 61", "smg9 nonsense-mediated mrna decay factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56006 ; - skos:exactMatch HGNC_symbol:SMG9 ; + skos:exactMatch UMLS:C2240325, + HGNC:25763, + HGNC_symbol:SMG9 ; biolink:category biolink:Gene . OMIM:613178 a owl:Class ; rdfs:label "CTIF" ; IAO:0000142 PMID:19648179, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1428332 ; oboInOwl:hasExactSynonym "CTIF", "cap-binding complex-dependent translation initiation factor", "cbp80/cbp20-dependent translation initiation factor", "kiaa0427" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9811 ; - skos:exactMatch HGNC_symbol:CTIF ; + skos:exactMatch UMLS:C1428332, + HGNC:23925, + HGNC_symbol:CTIF ; biolink:category biolink:Gene . OMIM:613180 a owl:Class ; IAO:0000142 PMID:19896110 ; IAO:0100001 OMIM:609528 ; - oboInOwl:hasDbXref UMLS:C2750798 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C2750798 . OMIM:613181 a owl:Class ; rdfs:label "BOLA1" ; IAO:0000142 PMID:18548201 ; - oboInOwl:hasDbXref UMLS:C1826626 ; oboInOwl:hasExactSynonym "BOLA1", "bola family member 1", "bola, e. coli, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51027 ; - skos:exactMatch HGNC_symbol:BOLA1 ; + skos:exactMatch UMLS:C1826626, + HGNC:24263, + HGNC_symbol:BOLA1 ; biolink:category biolink:Gene . OMIM:613182 a owl:Class ; @@ -312889,13 +325717,14 @@ OMIM:613182 a owl:Class ; IAO:0000142 PMID:14718656, PMID:18548201, PMID:27487209 ; - oboInOwl:hasDbXref UMLS:C1826627 ; oboInOwl:hasExactSynonym "BOLA2", "bola family member 2", "bola, e. coli, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:552900 ; - skos:exactMatch HGNC_symbol:BOLA2 ; + skos:exactMatch UMLS:C1826627, + HGNC:29488, + HGNC_symbol:BOLA2 ; biolink:category biolink:Gene . OMIM:613183 a owl:Class ; @@ -312908,14 +325737,15 @@ OMIM:613183 a owl:Class ; PMID:30302924 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:614299 ; - oboInOwl:hasDbXref UMLS:C1826629, - UMLS:C3280378 ; oboInOwl:hasExactSynonym "BOLA3", "bola family member 3", "bola, e. coli, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388962 ; - skos:exactMatch HGNC_symbol:BOLA3 ; + skos:exactMatch UMLS:C1826629, + UMLS:C3280378, + HGNC:24415, + HGNC_symbol:BOLA3 ; biolink:category biolink:Gene . OMIM:613184 a owl:Class ; @@ -312923,27 +325753,29 @@ OMIM:613184 a owl:Class ; IAO:0000142 PMID:11560955, PMID:11597395, PMID:18451177 ; - oboInOwl:hasDbXref UMLS:C1540072 ; oboInOwl:hasExactSynonym "TRIM68", "gc109", "ss56", "tripartite motif-containing protein 68" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55128 ; - skos:exactMatch HGNC_symbol:TRIM68 ; + skos:exactMatch UMLS:C1540072, + HGNC:21161, + HGNC_symbol:TRIM68 ; biolink:category biolink:Gene . OMIM:613185 a owl:Class ; rdfs:label "MIR95" ; IAO:0000142 PMID:11914277 ; - oboInOwl:hasDbXref UMLS:C1537751 ; oboInOwl:hasExactSynonym "MIR95", "micro RNA 95", "mirn95", "mirna95" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407052 ; - skos:exactMatch HGNC_symbol:MIR95 ; + skos:exactMatch UMLS:C1537751, + HGNC:31647, + HGNC_symbol:MIR95 ; biolink:category biolink:Gene . OMIM:613186 a owl:Class ; @@ -312952,55 +325784,59 @@ OMIM:613186 a owl:Class ; PMID:16039986, PMID:21212412, PMID:25027842 ; - oboInOwl:hasDbXref UMLS:C1537756 ; oboInOwl:hasExactSynonym "MIR100", "micro RNA 100", "mirn100", "mirna100" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406892 ; - skos:exactMatch HGNC_symbol:MIR100 ; + skos:exactMatch UMLS:C1537756, + HGNC:31487, + HGNC_symbol:MIR100 ; biolink:category biolink:Gene . OMIM:613187 a owl:Class ; rdfs:label "MIR103-1" ; IAO:0000142 PMID:11914277, PMID:21654750 ; - oboInOwl:hasDbXref UMLS:C1537759 ; oboInOwl:hasExactSynonym "MIR103-1", "micro RNA 103-1", "mirn103-1", "mirna103-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406895 ; - skos:exactMatch HGNC_symbol:MIR103A1 ; + skos:exactMatch UMLS:C1537759, + HGNC:31490, + HGNC_symbol:MIR103A1 ; biolink:category biolink:Gene . OMIM:613188 a owl:Class ; rdfs:label "MIR103-2" ; IAO:0000142 PMID:11914277 ; - oboInOwl:hasDbXref UMLS:C1537760 ; oboInOwl:hasExactSynonym "MIR103-2", "micro RNA 103-2", "mirn103-2", "mirna103-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406896 ; - skos:exactMatch HGNC_symbol:MIR103A2 ; + skos:exactMatch UMLS:C1537760, + HGNC:31491, + HGNC_symbol:MIR103A2 ; biolink:category biolink:Gene . OMIM:613189 a owl:Class ; rdfs:label "MIR107" ; IAO:0000142 PMID:11914277, PMID:21654750 ; - oboInOwl:hasDbXref UMLS:C1537765 ; oboInOwl:hasExactSynonym "MIR107", "micro RNA 107", "mirn107", "mirna107" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406901 ; - skos:exactMatch HGNC_symbol:MIR107 ; + skos:exactMatch UMLS:C1537765, + HGNC:31496, + HGNC_symbol:MIR107 ; biolink:category biolink:Gene . OMIM:613190 a owl:Class ; @@ -313012,78 +325848,83 @@ OMIM:613190 a owl:Class ; PMID:27261005 ; RO:0002525 CHR:9606chr16q24.1 ; RO:0003303 OMIM:613193 ; - oboInOwl:hasDbXref UMLS:C1825897, - UMLS:C2750790 ; oboInOwl:hasExactSynonym "DNAAF1", "dynein, axonemal, assembly factor 1", "leucine-rich repeat-containing protein 50", "oda7, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123872 ; - skos:exactMatch HGNC_symbol:DNAAF1 ; + skos:exactMatch UMLS:C1825897, + UMLS:C2750790, + HGNC:30539, + HGNC_symbol:DNAAF1 ; biolink:category biolink:Gene . OMIM:613191 a owl:Class ; rdfs:label "DUSP13" ; IAO:0000142 PMID:10585869, PMID:15252030 ; - oboInOwl:hasDbXref UMLS:C1426331 ; oboInOwl:hasExactSynonym "DUSP13", "dual-specificity phosphatase 13", "muscle-restricted dual-specificity phosphatase", "testis- and skeletal muscle-specific dual-specificity phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51207 ; - skos:exactMatch HGNC_symbol:DUSP13 ; + skos:exactMatch UMLS:C1426331, + HGNC:19681, + HGNC_symbol:DUSP13 ; biolink:category biolink:Gene . OMIM:613194 a owl:Class ; rdfs:label "retinitis pigmentosa 50" ; IAO:0000142 PMID:19853238 ; - oboInOwl:hasDbXref UMLS:C2750789 ; oboInOwl:hasExactSynonym "RP50", "retinitis pigmentosa 50", "retinitis pigmentosa, concentric" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C2750789 ; biolink:category biolink:Disease . OMIM:613196 a owl:Class ; rdfs:label "ETAA1" ; IAO:0000142 PMID:30139873 ; - oboInOwl:hasDbXref UMLS:C1825070 ; oboInOwl:hasExactSynonym "ETAA1", "etaa1 activator of atr kinase", "etaa16", "ewing tumor-associated antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54465 ; - skos:exactMatch HGNC_symbol:ETAA1 ; + skos:exactMatch UMLS:C1825070, + HGNC:24648, + HGNC_symbol:ETAA1 ; biolink:category biolink:Gene . OMIM:613197 a owl:Class ; rdfs:label "TRAFD1" ; IAO:0000142 PMID:16221674, PMID:18849341 ; - oboInOwl:hasDbXref UMLS:C1823477 ; oboInOwl:hasExactSynonym "TRAFD1", "fln29", "traf-type zinc finger domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10906 ; - skos:exactMatch HGNC_symbol:TRAFD1 ; + skos:exactMatch UMLS:C1823477, + HGNC:24808, + HGNC_symbol:TRAFD1 ; biolink:category biolink:Gene . OMIM:613198 a owl:Class ; rdfs:label "KMT5C" ; IAO:0000142 PMID:15145825, PMID:16322686 ; - oboInOwl:hasDbXref UMLS:C1539901 ; oboInOwl:hasExactSynonym "KMT5C", "lysine methyltransferase 5c", "suppressor of variegation 4-20, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84787 ; - skos:exactMatch HGNC_symbol:KMT5C ; + skos:exactMatch UMLS:C1539901, + HGNC:28405, + HGNC_symbol:KMT5C ; biolink:category biolink:Gene . OMIM:613199 a owl:Class ; @@ -313095,7 +325936,6 @@ OMIM:613199 a owl:Class ; PMID:16893890, PMID:17158878, PMID:17396146 ; - oboInOwl:hasDbXref UMLS:C1539923 ; oboInOwl:hasExactSynonym "TAOK2", "kiaa0881", "prostate-derived ste20-like kinase", @@ -313106,7 +325946,9 @@ OMIM:613199 a owl:Class ; "tao2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9344 ; - skos:exactMatch HGNC_symbol:TAOK2 ; + skos:exactMatch UMLS:C1539923, + HGNC:16835, + HGNC_symbol:TAOK2 ; biolink:category biolink:Gene . OMIM:613200 a owl:Class ; @@ -313114,7 +325956,6 @@ OMIM:613200 a owl:Class ; IAO:0000142 PMID:15019998, PMID:19907496, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C2239805 ; oboInOwl:hasExactSynonym "PDS5A", "kiaa0648", "pds5 cohesin-associated factor a", @@ -313122,7 +325963,9 @@ OMIM:613200 a owl:Class ; "scc112" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23244 ; - skos:exactMatch HGNC_symbol:PDS5A ; + skos:exactMatch UMLS:C2239805, + HGNC:29088, + HGNC_symbol:PDS5A ; biolink:category biolink:Gene . OMIM:613201 a owl:Class ; @@ -313131,7 +325974,6 @@ OMIM:613201 a owl:Class ; PMID:12766176, PMID:12930902, PMID:19907496 ; - oboInOwl:hasDbXref UMLS:C1425513 ; oboInOwl:hasExactSynonym "CHTF18", "chl12, yeast, homolog of", "chromosome transmission fidelity factor 18", @@ -313139,7 +325981,9 @@ OMIM:613201 a owl:Class ; "ctf18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63922 ; - skos:exactMatch HGNC_symbol:CHTF18 ; + skos:exactMatch UMLS:C1425513, + HGNC:18435, + HGNC_symbol:CHTF18 ; biolink:category biolink:Gene . OMIM:613202 a owl:Class ; @@ -313147,14 +325991,15 @@ OMIM:613202 a owl:Class ; IAO:0000142 PMID:12766176, PMID:12930902, PMID:19907496 ; - oboInOwl:hasDbXref UMLS:C2681361 ; oboInOwl:hasExactSynonym "CHTF8", "chromosome transmission fidelity factor 8", "chromosome transmission fidelity factor 8, s. cerevisiae, homolog of", "ctf8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54921 ; - skos:exactMatch HGNC_symbol:CHTF8 ; + skos:exactMatch UMLS:C2681361, + HGNC:24353, + HGNC_symbol:CHTF8 ; biolink:category biolink:Gene . OMIM:613203 a owl:Class ; @@ -313162,14 +326007,15 @@ OMIM:613203 a owl:Class ; IAO:0000142 PMID:12766176, PMID:12930902, PMID:19907496 ; - oboInOwl:hasDbXref UMLS:C2239361 ; oboInOwl:hasExactSynonym "DNA replication and sister chromatid cohesion 1", "DSCC1", "dcc1", "defective 1n sister chromatid cohesion 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79075 ; - skos:exactMatch HGNC_symbol:DSCC1 ; + skos:exactMatch UMLS:C2239361, + HGNC:24453, + HGNC_symbol:DSCC1 ; biolink:category biolink:Gene . OMIM:613205 a owl:Class ; @@ -313178,18 +326024,18 @@ OMIM:613205 a owl:Class ; PMID:15622532, PMID:15961312, PMID:18551513 ; - oboInOwl:hasDbXref UMLS:C2750785 ; oboInOwl:hasExactSynonym "mdcl", "muscular dystrophy, congenital, lmna-related" ; + skos:exactMatch UMLS:C2750785 ; biolink:category biolink:Disease . OMIM:613206 a owl:Class ; rdfs:label "spastic paraplegia 44, autosomal recessive" ; IAO:0000142 PMID:19056803 ; - oboInOwl:hasDbXref UMLS:C2750784 ; oboInOwl:hasExactSynonym "SPG44", "spastic paraplegia 44, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2750784 ; biolink:category biolink:Disease . OMIM:613209 a owl:Class ; @@ -313197,40 +326043,43 @@ OMIM:613209 a owl:Class ; IAO:0000142 PMID:10718198, PMID:19349973, PMID:19965467 ; - oboInOwl:hasDbXref UMLS:C1823445 ; oboInOwl:hasExactSynonym "TMEM181", "g protein-coupled receptor 178", "kiaa1423", "transmembrane protein 181" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57583 ; - skos:exactMatch HGNC_symbol:TMEM181 ; + skos:exactMatch UMLS:C1823445, + HGNC:20958, + HGNC_symbol:TMEM181 ; biolink:category biolink:Gene . OMIM:613210 a owl:Class ; rdfs:label "DPH7" ; IAO:0000142 PMID:11595641, PMID:19965467 ; - oboInOwl:hasDbXref UMLS:C1823846 ; oboInOwl:hasExactSynonym "DPH7", "diphthamide biosynthesis protein 7", "dph7, s. cerevisiae, homolog of", "wd repeat-containing protein 85" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92715 ; - skos:exactMatch HGNC_symbol:DPH7 ; + skos:exactMatch UMLS:C1823846, + HGNC:25199, + HGNC_symbol:DPH7 ; biolink:category biolink:Gene . OMIM:613212 a owl:Class ; rdfs:label "AARSD1" ; IAO:0000142 PMID:18172502, PMID:20010690 ; - oboInOwl:hasDbXref UMLS:C1825491 ; oboInOwl:hasExactSynonym "AARSD1", "alanyl-trna synthetase domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80755 ; - skos:exactMatch HGNC_symbol:AARSD1 ; + skos:exactMatch UMLS:C1825491, + HGNC:28417, + HGNC_symbol:AARSD1 ; biolink:category biolink:Gene . OMIM:613213 a owl:Class ; @@ -313276,14 +326125,15 @@ OMIM:613213 a owl:Class ; PMID:9695975 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:250800 ; - oboInOwl:hasDbXref UMLS:C1824843 ; oboInOwl:hasExactSynonym "CYB5R3", "b5r", "cytochrome b5 reductase 3", "nadh-diaphorase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1727 ; - skos:exactMatch HGNC_symbol:CYB5R3 ; + skos:exactMatch UMLS:C1824843, + HGNC:2873, + HGNC_symbol:CYB5R3 ; biolink:category biolink:Gene . OMIM:613214 a owl:Class ; @@ -313293,12 +326143,13 @@ OMIM:613214 a owl:Class ; PMID:25008349 ; RO:0002525 CHR:9606chr15q21.3 ; RO:0003303 OMIM:613211 ; - oboInOwl:hasDbXref UMLS:C1823836 ; oboInOwl:hasExactSynonym "WDR72", "wd repeat-containing protein 72" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256764 ; - skos:exactMatch HGNC_symbol:WDR72 ; + skos:exactMatch UMLS:C1823836, + HGNC:26790, + HGNC_symbol:WDR72 ; biolink:category biolink:Gene . OMIM:613215 a owl:Class ; @@ -313307,8 +326158,8 @@ OMIM:613215 a owl:Class ; PMID:19520700, PMID:20452996 ; RO:0002525 CHR:9606chr17p13.3 ; - oboInOwl:hasDbXref UMLS:C3808300 ; oboInOwl:hasExactSynonym "chromosome 17p13.3, centromeric, duplication syndrome" ; + skos:exactMatch UMLS:C3808300 ; biolink:category biolink:Disease . OMIM:613218 a owl:Class ; @@ -313328,14 +326179,15 @@ OMIM:613218 a owl:Class ; PMID:8262522 ; RO:0002525 CHR:9606chr18q22.3 ; RO:0003303 OMIM:250790 ; - oboInOwl:hasDbXref UMLS:C1824837 ; oboInOwl:hasExactSynonym "CYB5A", "cytochrome b5", "cytochrome b5, iia a (microsomal)", "microsomal cytochrome b5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1528 ; - skos:exactMatch HGNC_symbol:CYB5A ; + skos:exactMatch UMLS:C1824837, + HGNC:2570, + HGNC_symbol:CYB5A ; biolink:category biolink:Gene . OMIM:613220 a owl:Class ; @@ -313343,38 +326195,41 @@ OMIM:613220 a owl:Class ; IAO:0000142 PMID:18559506, PMID:19079261, PMID:28811369 ; - oboInOwl:hasDbXref UMLS:C1428462 ; oboInOwl:hasExactSynonym "TMEM18", "transmembrane protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129787 ; - skos:exactMatch HGNC_symbol:TMEM18 ; + skos:exactMatch UMLS:C1428462, + HGNC:25257, + HGNC_symbol:TMEM18 ; biolink:category biolink:Gene . OMIM:613221 a owl:Class ; rdfs:label "MTCH2" ; IAO:0000142 PMID:12407445, PMID:19079261 ; - oboInOwl:hasDbXref UMLS:C1425005 ; oboInOwl:hasExactSynonym "MTCH2", "met-induced mitochondrial protein", "mitochondrial carrier homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23788 ; - skos:exactMatch HGNC_symbol:MTCH2 ; + skos:exactMatch UMLS:C1425005, + HGNC:17587, + HGNC_symbol:MTCH2 ; biolink:category biolink:Gene . OMIM:613222 a owl:Class ; rdfs:label "GNPDA2" ; IAO:0000142 PMID:12965206, PMID:19079261 ; - oboInOwl:hasDbXref UMLS:C1427589 ; oboInOwl:hasExactSynonym "GNPDA2", "glucosamine-6-phosphate deaminase 2", "gnp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132789 ; - skos:exactMatch HGNC_symbol:GNPDA2 ; + skos:exactMatch UMLS:C1427589, + HGNC:21526, + HGNC_symbol:GNPDA2 ; biolink:category biolink:Gene . OMIM:613224 a owl:Class ; @@ -313382,10 +326237,10 @@ OMIM:613224 a owl:Class ; IAO:0000142 PMID:19775298, PMID:19966803, PMID:26467218 ; - oboInOwl:hasDbXref UMLS:C2750732 ; oboInOwl:hasExactSynonym "NS6", "noonan syndrome 6" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C2750732 ; biolink:category biolink:Disease . OMIM:613225 a owl:Class ; @@ -313423,22 +326278,23 @@ OMIM:613225 a owl:Class ; PMID:7727776, PMID:7918041, PMID:8989821 ; - oboInOwl:hasDbXref UMLS:C2750514 ; oboInOwl:hasExactSynonym "factor xiii, a subunit, deficiency of" ; + skos:exactMatch UMLS:C2750514 ; biolink:category biolink:Disease . OMIM:613226 a owl:Class ; rdfs:label "ZNF296" ; IAO:0000142 PMID:11063263, PMID:19255975 ; - oboInOwl:hasDbXref UMLS:C0964742 ; oboInOwl:hasExactSynonym "ZNF296", "zfp296", "zinc finger protein 296", "znf342" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162979 ; - skos:exactMatch HGNC_symbol:ZNF296 ; + skos:exactMatch UMLS:C0964742, + HGNC:15981, + HGNC_symbol:ZNF296 ; biolink:category biolink:Gene . OMIM:613228 a owl:Class ; @@ -313470,13 +326326,14 @@ OMIM:613228 a owl:Class ; PMID:9137882 ; RO:0002525 CHR:9606chr4q34.3 ; RO:0003303 OMIM:208400 ; - oboInOwl:hasDbXref UMLS:C1412276 ; oboInOwl:hasExactSynonym "AGA", "aspartylglucosaminidase", "glycosylasparaginase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:175 ; - skos:exactMatch HGNC_symbol:AGA ; + skos:exactMatch UMLS:C1412276, + HGNC:318, + HGNC_symbol:AGA ; biolink:category biolink:Gene . OMIM:613229 a owl:Class ; @@ -313486,9 +326343,9 @@ OMIM:613229 a owl:Class ; PMID:17713528, PMID:19199280, PMID:2018177 ; - oboInOwl:hasDbXref UMLS:C0040953 ; oboInOwl:hasExactSynonym "TTM", "trichotillomania" ; + skos:exactMatch UMLS:C0040953 ; biolink:category biolink:Disease . OMIM:613230 a owl:Class ; @@ -313519,38 +326376,41 @@ OMIM:613230 a owl:Class ; PMID:975880 ; RO:0002525 CHR:9606chr19q13.11 ; RO:0003303 OMIM:170100 ; - oboInOwl:hasDbXref UMLS:C1418462 ; oboInOwl:hasExactSynonym "PEPD", "imidodipeptidase", "peptidase d", "prolidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5184 ; - skos:exactMatch HGNC_symbol:PEPD ; + skos:exactMatch UMLS:C1418462, + HGNC:8840, + HGNC_symbol:PEPD ; biolink:category biolink:Gene . OMIM:613231 a owl:Class ; rdfs:label "KIF26A" ; IAO:0000142 PMID:10574462, PMID:19914172 ; - oboInOwl:hasDbXref UMLS:C1426789 ; oboInOwl:hasExactSynonym "KIF26A", "kiaa1236", "kinesin family member 26a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26153 ; - skos:exactMatch HGNC_symbol:KIF26A ; + skos:exactMatch UMLS:C1426789, + HGNC:20226, + HGNC_symbol:KIF26A ; biolink:category biolink:Gene . OMIM:613232 a owl:Class ; rdfs:label "RBM42" ; IAO:0000142 PMID:19170760 ; - oboInOwl:hasDbXref UMLS:C2239872 ; oboInOwl:hasExactSynonym "RBM42", "rna-binding motif protein 42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79171 ; - skos:exactMatch HGNC_symbol:RBM42 ; + skos:exactMatch UMLS:C2239872, + HGNC:28117, + HGNC_symbol:RBM42 ; biolink:category biolink:Gene . OMIM:613234 a owl:Class ; @@ -313559,14 +326419,15 @@ OMIM:613234 a owl:Class ; PMID:17052608, PMID:18782767, PMID:20079333 ; - oboInOwl:hasDbXref UMLS:C1538892 ; oboInOwl:hasExactSynonym "NCEH1", "kiaa1363", "nceh", "neutral cholesterol ester hydrolase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57552 ; - skos:exactMatch HGNC_symbol:NCEH1 ; + skos:exactMatch UMLS:C1538892, + HGNC:29260, + HGNC_symbol:NCEH1 ; biolink:category biolink:Gene . OMIM:613236 a owl:Class ; @@ -313574,44 +326435,47 @@ OMIM:613236 a owl:Class ; IAO:0000142 PMID:20074522 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:613239 ; - oboInOwl:hasDbXref UMLS:C2750476 ; oboInOwl:hasExactSynonym "KCNJ18", "kir2.6", "potassium channel, inwardly rectifying, subfamily j, member 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100134444 ; - skos:exactMatch HGNC_symbol:KCNJ18 ; + skos:exactMatch UMLS:C2750476, + HGNC:39080, + HGNC_symbol:KCNJ18 ; biolink:category biolink:Gene . OMIM:613240 a owl:Class ; rdfs:label "PPP1R1C" ; IAO:0000142 PMID:18310074 ; - oboInOwl:hasDbXref UMLS:C1423071 ; oboInOwl:hasExactSynonym "PPP1R1C", "protein phosphatase 1 inhibitor 5", "protein phosphatase 1, regulatory subunit 1c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151242 ; - skos:exactMatch HGNC_symbol:PPP1R1C ; + skos:exactMatch UMLS:C1423071, + HGNC:14940, + HGNC_symbol:PPP1R1C ; biolink:category biolink:Gene . OMIM:613241 a owl:Class ; rdfs:label "pseudopili annulati" ; IAO:0000142 PMID:11207966, PMID:5470945 ; - oboInOwl:hasDbXref UMLS:C3150463 ; - oboInOwl:hasExactSynonym "pseudopili annulati" . + oboInOwl:hasExactSynonym "pseudopili annulati" ; + skos:exactMatch UMLS:C3150463 . OMIM:613242 a owl:Class ; rdfs:label "PPP1R14C" ; IAO:0000142 PMID:11812771 ; - oboInOwl:hasDbXref UMLS:C1423082 ; oboInOwl:hasExactSynonym "PPP1R14C", "kinase-enhanced protein phosphatase 1 inhibitor", "protein phosphatase 1, regulatory subunit 14c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81706 ; - skos:exactMatch HGNC_symbol:PPP1R14C ; + skos:exactMatch UMLS:C1423082, + HGNC:14952, + HGNC_symbol:PPP1R14C ; biolink:category biolink:Gene . OMIM:613244 a owl:Class ; @@ -313619,104 +326483,110 @@ OMIM:613244 a owl:Class ; IAO:0000142 PMID:16951683, PMID:19098912, PMID:21309036 ; - oboInOwl:hasDbXref UMLS:C2750471 ; oboInOwl:hasExactSynonym "HNPCC8", "colorectal cancer, hereditary nonpolyposis, iia 8" ; rdfs:subClassOf OMIMPS:120435 ; + skos:exactMatch UMLS:C2750471 ; biolink:category biolink:Disease . OMIM:613245 a owl:Class ; rdfs:label "PPP1R12C" ; IAO:0000142 PMID:11399775 ; - oboInOwl:hasDbXref UMLS:C1423078 ; oboInOwl:hasExactSynonym "PPP1R12C", "myosin-binding subunit, 85-kd", "protein phosphatase 1, regulatory subunit 12c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54776 ; - skos:exactMatch HGNC_symbol:PPP1R12C ; + skos:exactMatch UMLS:C1423078, + HGNC:14947, + HGNC_symbol:PPP1R12C ; biolink:category biolink:Gene . OMIM:613246 a owl:Class ; rdfs:label "PPP1R1A" ; IAO:0000142 PMID:11883959, PMID:8611507 ; - oboInOwl:hasDbXref UMLS:C1418824 ; oboInOwl:hasExactSynonym "PPP1R1A", "inhibitor 1", "protein phosphatase 1 inhibitor 1", "protein phosphatase 1, regulatory subunit 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5502 ; - skos:exactMatch HGNC_symbol:PPP1R1A ; + skos:exactMatch UMLS:C1418824, + HGNC:9286, + HGNC_symbol:PPP1R1A ; biolink:category biolink:Gene . OMIM:613247 a owl:Class ; rdfs:label "PLIN4" ; IAO:0000142 PMID:11572484, PMID:12840023 ; - oboInOwl:hasDbXref UMLS:C1428852 ; oboInOwl:hasExactSynonym "PLIN4", "kiaa1881", "perilipin 4", "s3-12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729359 ; - skos:exactMatch HGNC_symbol:PLIN4 ; + skos:exactMatch UMLS:C1428852, + HGNC:29393, + HGNC_symbol:PLIN4 ; biolink:category biolink:Gene . OMIM:613248 a owl:Class ; rdfs:label "PLIN5" ; IAO:0000142 PMID:17234449, PMID:21393244 ; - oboInOwl:hasDbXref UMLS:C2750470 ; oboInOwl:hasExactSynonym "PLIN5", "lipid storage droplet protein 5", "perilipin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440503 ; - skos:exactMatch HGNC_symbol:PLIN5 ; + skos:exactMatch UMLS:C2750470, + HGNC:33196, + HGNC_symbol:PLIN5 ; biolink:category biolink:Gene . OMIM:613249 a owl:Class ; rdfs:label "EBLN1" ; IAO:0000142 PMID:20054395 ; - oboInOwl:hasDbXref UMLS:C2750469 ; oboInOwl:hasExactSynonym "EBLN1", "endogenous borna-like n element-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340900 ; - skos:exactMatch HGNC_symbol:EBLN1 ; + skos:exactMatch UMLS:C2750469, + HGNC:39430, + HGNC_symbol:EBLN1 ; biolink:category biolink:Gene . OMIM:613250 a owl:Class ; rdfs:label "EBLN2" ; IAO:0000142 PMID:20054395 ; - oboInOwl:hasDbXref UMLS:C2750468 ; oboInOwl:hasExactSynonym "EBLN2", "endogenous borna-like n element-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55096 ; - skos:exactMatch HGNC_symbol:EBLN2 ; + skos:exactMatch UMLS:C2750468, + HGNC:25493, + HGNC_symbol:EBLN2 ; biolink:category biolink:Gene . OMIM:613251 a owl:Class ; rdfs:label "cardiomyopathy, familial hypertrophic, 14" ; IAO:0000142 PMID:11815426, PMID:15998695 ; - oboInOwl:hasDbXref UMLS:C2750467 ; oboInOwl:hasExactSynonym "CMH14", "cardiomyopathy, familial hypertrophic, 14" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C2750467 ; biolink:category biolink:Disease . OMIM:613252 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1ee" ; IAO:0000142 PMID:15998695 ; - oboInOwl:hasDbXref UMLS:C2750466 ; oboInOwl:hasExactSynonym "CMD1EE", "cardiomyopathy, dilated, 1ee" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C2750466 ; biolink:category biolink:Disease . OMIM:613253 a owl:Class ; @@ -313726,13 +326596,14 @@ OMIM:613253 a owl:Class ; OMIM:613256 a owl:Class ; rdfs:label "PPP1R14D" ; IAO:0000142 PMID:12974676 ; - oboInOwl:hasDbXref UMLS:C1423083 ; oboInOwl:hasExactSynonym "PPP1R14D", "gut and brain phosphatase inhibitor 1", "protein phosphatase 1, regulatory subunit 14d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54866 ; - skos:exactMatch HGNC_symbol:PPP1R14D ; + skos:exactMatch UMLS:C1423083, + HGNC:14953, + HGNC_symbol:PPP1R14D ; biolink:category biolink:Gene . OMIM:613257 a owl:Class ; @@ -313742,25 +326613,27 @@ OMIM:613257 a owl:Class ; PMID:26307080 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:616817 ; - oboInOwl:hasDbXref UMLS:C1423081 ; oboInOwl:hasExactSynonym "PPP1R15B", "crep", "protein phosphatase 1, regulatory subunit 15b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84919 ; - skos:exactMatch HGNC_symbol:PPP1R15B ; + skos:exactMatch UMLS:C1423081, + HGNC:14951, + HGNC_symbol:PPP1R15B ; biolink:category biolink:Gene . OMIM:613258 a owl:Class ; rdfs:label "C18ORF54" ; IAO:0000142 PMID:19622765 ; - oboInOwl:hasDbXref UMLS:C1540278 ; oboInOwl:hasExactSynonym "C18ORF54", "chromosome 18 open reading frame 54", "las2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162681 ; - skos:exactMatch HGNC_symbol:C18orf54 ; + skos:exactMatch UMLS:C1540278, + HGNC:13796, + HGNC_symbol:C18orf54 ; biolink:category biolink:Gene . OMIM:613259 a owl:Class ; @@ -313768,71 +326641,77 @@ OMIM:613259 a owl:Class ; IAO:0000142 PMID:15854042, PMID:20448178, PMID:20448179 ; - oboInOwl:hasDbXref UMLS:C1826941 ; oboInOwl:hasExactSynonym "RPTN", "repetin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126638 ; - skos:exactMatch HGNC_symbol:RPTN ; + skos:exactMatch UMLS:C1826941, + HGNC:26809, + HGNC_symbol:RPTN ; biolink:category biolink:Gene . OMIM:613260 a owl:Class ; rdfs:label "KPRP" ; IAO:0000142 PMID:16297201 ; - oboInOwl:hasDbXref UMLS:C1825736 ; oboInOwl:hasExactSynonym "KPRP", "keratinocyte proline-rich protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:448834 ; - skos:exactMatch HGNC_symbol:KPRP ; + skos:exactMatch UMLS:C1825736, + HGNC:31823, + HGNC_symbol:KPRP ; biolink:category biolink:Gene . OMIM:613261 a owl:Class ; rdfs:label "PRTG" ; IAO:0000142 PMID:15922677 ; - oboInOwl:hasDbXref UMLS:C1826726 ; oboInOwl:hasExactSynonym "PRTG", "protogenin, chicken, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283659 ; - skos:exactMatch HGNC_symbol:PRTG ; + skos:exactMatch UMLS:C1826726, + HGNC:26373, + HGNC_symbol:PRTG ; biolink:category biolink:Gene . OMIM:613262 a owl:Class ; rdfs:label "RSL24D1" ; IAO:0000142 PMID:12808088 ; - oboInOwl:hasDbXref UMLS:C1425543 ; oboInOwl:hasExactSynonym "RSL24D1", "ribosomal protein l24 domain-containing protein 1", "rlp24, yeast, homolog of", "rpl24 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51187 ; - skos:exactMatch HGNC_symbol:RSL24D1 ; + skos:exactMatch UMLS:C1425543, + HGNC:18479, + HGNC_symbol:RSL24D1 ; biolink:category biolink:Gene . OMIM:613263 a owl:Class ; rdfs:label "SNHG5" ; IAO:0000142 PMID:10792466 ; - oboInOwl:hasDbXref UMLS:C1822800 ; oboInOwl:hasExactSynonym "SNHG5", "small nucleolar RNA host gene 5", "u50 host gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387066 ; - skos:exactMatch HGNC_symbol:SNHG5 ; + skos:exactMatch UMLS:C1822800, + HGNC:21026, + HGNC_symbol:SNHG5 ; biolink:category biolink:Gene . OMIM:613264 a owl:Class ; rdfs:label "SNORD50B" ; IAO:0000142 PMID:10792466 ; - oboInOwl:hasDbXref UMLS:C1822956 ; oboInOwl:hasExactSynonym "SNORD50B", "small nucleolar rna, c/d box", "snorna, u50-prime" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:692088 ; - skos:exactMatch HGNC_symbol:SNORD50B ; + skos:exactMatch UMLS:C1822956, + HGNC:32722, + HGNC_symbol:SNORD50B ; biolink:category biolink:Gene . OMIM:613265 a owl:Class ; @@ -313845,11 +326724,11 @@ OMIM:613265 a owl:Class ; PMID:8630502, PMID:8630503, PMID:9279758 ; - oboInOwl:hasDbXref UMLS:C2750457 ; oboInOwl:hasExactSynonym "WS4B", "waardenburg syndrome, iia 4b", "waardenburg syndrome, iia 4b, with hirschsprung disease" ; rdfs:subClassOf OMIMPS:193500 ; + skos:exactMatch UMLS:C2750457 ; biolink:category biolink:Disease . OMIM:613267 a owl:Class ; @@ -313866,23 +326745,23 @@ OMIM:613267 a owl:Class ; PMID:25722209, PMID:26401622, PMID:9302263 ; - oboInOwl:hasDbXref UMLS:C2750451 ; oboInOwl:hasExactSynonym "FECD3", "corneal dystrophy, fuchs endothelial, 3", "corneal dystrophy, fuchs endothelial, late-onset", "fcd2 locus" ; rdfs:subClassOf OMIMPS:136800 ; + skos:exactMatch UMLS:C2750451 ; biolink:category biolink:Disease . OMIM:613268 a owl:Class ; rdfs:label "corneal dystrophy, fuchs endothelial, 4" ; IAO:0000142 PMID:18024964, PMID:24094747 ; - oboInOwl:hasDbXref UMLS:C2750450 ; oboInOwl:hasExactSynonym "FECD4", "corneal dystrophy, fuchs endothelial, 4", "corneal dystrophy, fuchs endothelial, late-onset" ; rdfs:subClassOf OMIMPS:136800 ; + skos:exactMatch UMLS:C2750450 ; biolink:category biolink:Disease . OMIM:613270 a owl:Class ; @@ -313890,11 +326769,11 @@ OMIM:613270 a owl:Class ; IAO:0000142 PMID:20036349, PMID:24094747, PMID:26622166 ; - oboInOwl:hasDbXref UMLS:C2750448 ; oboInOwl:hasExactSynonym "FECD6", "corneal dystrophy, fuchs endothelial, 6", "corneal dystrophy, fuchs endothelial, late-onset" ; rdfs:subClassOf OMIMPS:136800 ; + skos:exactMatch UMLS:C2750448 ; biolink:category biolink:Disease . OMIM:613272 a owl:Class ; @@ -313902,19 +326781,19 @@ OMIM:613272 a owl:Class ; IAO:0000142 PMID:10508479, PMID:19582487, PMID:23382386 ; - oboInOwl:hasDbXref UMLS:C1427482 ; oboInOwl:hasExactSynonym "KCTD3", "ny-ren-45", "potassium channel tetramerization domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51133 ; - skos:exactMatch HGNC_symbol:KCTD3 ; + skos:exactMatch UMLS:C1427482, + HGNC:21305, + HGNC_symbol:KCTD3 ; biolink:category biolink:Gene . OMIM:613273 a owl:Class ; rdfs:label "INIP" ; IAO:0000142 PMID:19683501 ; - oboInOwl:hasDbXref UMLS:C1428437 ; oboInOwl:hasExactSynonym "INIP", "chromosome 9 open reading frame 80", "inst3- and nabp-interacting protein", @@ -313922,7 +326801,9 @@ OMIM:613273 a owl:Class ; "soss complex, subunit c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58493 ; - skos:exactMatch HGNC_symbol:INIP ; + skos:exactMatch UMLS:C1428437, + HGNC:24994, + HGNC_symbol:INIP ; biolink:category biolink:Gene . OMIM:613274 a owl:Class ; @@ -313933,14 +326814,15 @@ OMIM:613274 a owl:Class ; PMID:25967871 ; RO:0002525 CHR:9606chr18q12.2 ; RO:0003303 OMIM:603592 ; - oboInOwl:hasDbXref UMLS:C1425386 ; oboInOwl:hasExactSynonym "MOCOS", "hmcs", "mcs", "molybdenum cofactor sulfurase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55034 ; - skos:exactMatch HGNC_symbol:MOCOS ; + skos:exactMatch UMLS:C1425386, + HGNC:18234, + HGNC_symbol:MOCOS ; biolink:category biolink:Gene . OMIM:613275 a owl:Class ; @@ -313949,7 +326831,6 @@ OMIM:613275 a owl:Class ; PMID:12055102, PMID:17609201, PMID:18586956 ; - oboInOwl:hasDbXref UMLS:C1423772 ; oboInOwl:hasExactSynonym "PPP1R16B", "kiaa0823", "protein phosphatase 1, regulatory subunit 16b", @@ -313957,7 +326838,9 @@ OMIM:613275 a owl:Class ; "transforming growth factor-beta-inhibited membrane-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26051 ; - skos:exactMatch HGNC_symbol:PPP1R16B ; + skos:exactMatch UMLS:C1423772, + HGNC:15850, + HGNC_symbol:PPP1R16B ; biolink:category biolink:Gene . OMIM:613276 a owl:Class ; @@ -313970,14 +326853,15 @@ OMIM:613276 a owl:Class ; PMID:23190533 ; RO:0002525 CHR:9606chr16q21 ; RO:0003303 OMIM:604173 ; - oboInOwl:hasDbXref UMLS:C1824414 ; oboInOwl:hasExactSynonym "USB1", "chromosome 16 open reading frame 57", "u6 small nuclear RNA biogenesis phosphodiesterase 1", "u6 snrna biogenesis phosphodiesterase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79650 ; - skos:exactMatch HGNC_symbol:USB1 ; + skos:exactMatch UMLS:C1824414, + HGNC:25792, + HGNC_symbol:USB1 ; biolink:category biolink:Gene . OMIM:613277 a owl:Class ; @@ -313987,12 +326871,13 @@ OMIM:613277 a owl:Class ; PMID:22282472 ; RO:0002525 CHR:9606chr11q12.2 ; RO:0003303 OMIM:603194 ; - oboInOwl:hasDbXref UMLS:C2680482 ; oboInOwl:hasExactSynonym "TMEM216", "transmembrane protein 216" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51259 ; - skos:exactMatch HGNC_symbol:TMEM216 ; + skos:exactMatch UMLS:C2680482, + HGNC:25018, + HGNC_symbol:TMEM216 ; biolink:category biolink:Gene . OMIM:613278 a owl:Class ; @@ -314007,7 +326892,6 @@ OMIM:613278 a owl:Class ; PMID:21399624 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:613951 ; - oboInOwl:hasDbXref UMLS:C1428293 ; oboInOwl:hasExactSynonym "SLX4", "btb/poz domain-containing protein 12", "kiaa1784", @@ -314017,7 +326901,9 @@ OMIM:613278 a owl:Class ; "slx4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84464 ; - skos:exactMatch HGNC_symbol:SLX4 ; + skos:exactMatch UMLS:C1428293, + HGNC:23845, + HGNC_symbol:SLX4 ; biolink:category biolink:Gene . OMIM:613279 a owl:Class ; @@ -314028,25 +326914,27 @@ OMIM:613279 a owl:Class ; PMID:21734151 ; RO:0002525 CHR:9606chr14q31.3 ; RO:0003303 OMIM:617125 ; - oboInOwl:hasDbXref UMLS:C1823929 ; oboInOwl:hasExactSynonym "ny-ren-37", "suppressor of tau 2, c. elegans, homolog of", "zinc finger ccch domain-containing protein 14: zc3h14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79882 ; - skos:exactMatch HGNC_symbol:ZC3H14 ; + skos:exactMatch UMLS:C1823929, + HGNC:20509, + HGNC_symbol:ZC3H14 ; biolink:category biolink:Gene . OMIM:613281 a owl:Class ; rdfs:label "SNX20" ; IAO:0000142 PMID:18196517 ; - oboInOwl:hasDbXref UMLS:C2680431 ; oboInOwl:hasExactSynonym "SNX20", "selectin ligand interactor cytoplasmic 1", "sorting nexin 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124460 ; - skos:exactMatch HGNC_symbol:SNX20 ; + skos:exactMatch UMLS:C2680431, + HGNC:30390, + HGNC_symbol:SNX20 ; biolink:category biolink:Gene . OMIM:613283 a owl:Class ; @@ -314056,21 +326944,22 @@ OMIM:613283 a owl:Class ; PMID:20137778 ; RO:0002525 CHR:9606chr4p13 ; RO:0003303 OMIM:613285 ; - oboInOwl:hasDbXref UMLS:C2681555 ; oboInOwl:hasExactSynonym "GRXCR1", "glutaredoxin, cysteine-rich, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389207 ; - skos:exactMatch HGNC_symbol:GRXCR1 ; + skos:exactMatch UMLS:C2681555, + HGNC:31673, + HGNC_symbol:GRXCR1 ; biolink:category biolink:Gene . OMIM:613286 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1ff" ; IAO:0000142 PMID:19590045 ; - oboInOwl:hasDbXref UMLS:C2750091 ; oboInOwl:hasExactSynonym "CMD1FF", "cardiomyopathy, dilated, 1ff" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C2750091 ; biolink:category biolink:Disease . OMIM:613287 a owl:Class ; @@ -314078,12 +326967,12 @@ OMIM:613287 a owl:Class ; IAO:0000142 PMID:20045102, PMID:22009580, PMID:22206013 ; - oboInOwl:hasDbXref UMLS:C2750090 ; oboInOwl:hasExactSynonym "CMT2N", "charcot-marie-tooth disease, axonal, iia 2n", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2n", "charcot-marie-tooth neuropathy, axonal, iia 2n" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C2750090 ; biolink:category biolink:Disease . OMIM:613288 a owl:Class ; @@ -314091,13 +326980,14 @@ OMIM:613288 a owl:Class ; IAO:0000142 PMID:19043407, PMID:21343302, PMID:23354051 ; - oboInOwl:hasDbXref UMLS:C1823493 ; oboInOwl:hasExactSynonym "TRIM72", "mitsugumin, 53-kd", "tripartite motif-containing protein 72" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:493829 ; - skos:exactMatch HGNC_symbol:TRIM72 ; + skos:exactMatch UMLS:C1823493, + HGNC:32671, + HGNC_symbol:TRIM72 ; biolink:category biolink:Gene . OMIM:613289 a owl:Class ; @@ -314106,12 +326996,13 @@ OMIM:613289 a owl:Class ; PMID:16804541 ; RO:0002525 CHR:9606chr13q21 ; RO:0003303 OMIM:608768 ; - oboInOwl:hasDbXref UMLS:C1825849 ; oboInOwl:hasExactSynonym "ATXN8", "ataxin 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:724066 ; - skos:exactMatch HGNC_symbol:ATXN8 ; + skos:exactMatch UMLS:C1825849, + HGNC:32925, + HGNC_symbol:ATXN8 ; biolink:category biolink:Gene . OMIM:613292 a owl:Class ; @@ -314119,7 +327010,6 @@ OMIM:613292 a owl:Class ; IAO:0000142 PMID:16237082, PMID:20032318, PMID:20154091 ; - oboInOwl:hasDbXref UMLS:C1824907 ; oboInOwl:hasExactSynonym "DENND1B", "chromosome 1 open reading frame 18", "connecdenn 2", @@ -314127,7 +327017,9 @@ OMIM:613292 a owl:Class ; "family with sequence similarity 31, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163486 ; - skos:exactMatch HGNC_symbol:DENND1B ; + skos:exactMatch UMLS:C1824907, + HGNC:28404, + HGNC_symbol:DENND1B ; biolink:category biolink:Gene . OMIM:613293 a owl:Class ; @@ -314143,14 +327035,15 @@ OMIM:613293 a owl:Class ; PMID:9375925 ; RO:0002525 CHR:9606chr5q35.1 ; RO:0003303 OMIM:249420 ; - oboInOwl:hasDbXref UMLS:C1822712 ; oboInOwl:hasExactSynonym "SH3PXD2B", "kiaa1295", "sh3 and px domains-containing protein 2b", "tyrosine kinase substrate with 4 sh3 domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285590 ; - skos:exactMatch HGNC_symbol:SH3PXD2B ; + skos:exactMatch UMLS:C1822712, + HGNC:29242, + HGNC_symbol:SH3PXD2B ; biolink:category biolink:Gene . OMIM:613294 a owl:Class ; @@ -314161,14 +327054,15 @@ OMIM:613294 a owl:Class ; PMID:20164921, PMID:22157079, PMID:9920803 ; - oboInOwl:hasDbXref UMLS:C1826966 ; oboInOwl:hasExactSynonym "SAE1", "activator of sumo1, s. cerevisiae, homolog of", "sua1", "sumo1-activating enzyme, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10055 ; - skos:exactMatch HGNC_symbol:SAE1 ; + skos:exactMatch UMLS:C1826966, + HGNC:30660, + HGNC_symbol:SAE1 ; biolink:category biolink:Gene . OMIM:613295 a owl:Class ; @@ -314179,14 +327073,15 @@ OMIM:613295 a owl:Class ; PMID:20164921, PMID:22157079, PMID:9920803 ; - oboInOwl:hasDbXref UMLS:C1826967 ; oboInOwl:hasExactSynonym "UBA2", "sumo1-activating enzyme, subunit 2", "uba2, s. cerevisiae, homolog of", "ubiquitin-like modifier-activating enzyme 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10054 ; - skos:exactMatch HGNC_symbol:UBA2 ; + skos:exactMatch UMLS:C1826967, + HGNC:30661, + HGNC_symbol:UBA2 ; biolink:category biolink:Gene . OMIM:613296 a owl:Class ; @@ -314195,13 +327090,14 @@ OMIM:613296 a owl:Class ; PMID:15162524, PMID:15911104, PMID:20098429 ; - oboInOwl:hasDbXref UMLS:C1422129 ; oboInOwl:hasExactSynonym "LAPTM4B", "lysosome-associated protein, transmembrane 4, beta", "lysosome-associated transmembrane protein 4, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55353 ; - skos:exactMatch HGNC_symbol:LAPTM4B ; + skos:exactMatch UMLS:C1422129, + HGNC:13646, + HGNC_symbol:LAPTM4B ; biolink:category biolink:Gene . OMIM:613297 a owl:Class ; @@ -314219,7 +327115,6 @@ OMIM:613297 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr5p15.2 ; RO:0003303 OMIM:613608 ; - oboInOwl:hasDbXref UMLS:C1537661 ; oboInOwl:hasExactSynonym "MARCHF6", "doa10, s. cerevisiae, homolog of", "kiaa0597", @@ -314228,7 +327123,9 @@ OMIM:613297 a owl:Class ; "teb4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10299 ; - skos:exactMatch HGNC_symbol:MARCHF6 ; + skos:exactMatch UMLS:C1537661, + HGNC:30550, + HGNC_symbol:MARCHF6 ; biolink:category biolink:Gene . OMIM:613298 a owl:Class ; @@ -314238,7 +327135,6 @@ OMIM:613298 a owl:Class ; PMID:20835227, PMID:20865002, PMID:23704573 ; - oboInOwl:hasDbXref UMLS:C1824406 ; oboInOwl:hasExactSynonym "TICRR", "chromosome 15 open reading frame 42", "sld3, yeast, homolog of", @@ -314246,33 +327142,37 @@ OMIM:613298 a owl:Class ; "treslin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90381 ; - skos:exactMatch HGNC_symbol:TICRR ; + skos:exactMatch UMLS:C1824406, + HGNC:28704, + HGNC_symbol:TICRR ; biolink:category biolink:Gene . OMIM:613299 a owl:Class ; rdfs:label "FAM13A" ; IAO:0000142 PMID:10048485, PMID:15234000 ; - oboInOwl:hasDbXref UMLS:C1426195 ; oboInOwl:hasExactSynonym "FAM13A", "fam13a1", "family with sequence similarity 13, member a", "kiaa0914" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10144 ; - skos:exactMatch HGNC_symbol:FAM13A ; + skos:exactMatch UMLS:C1426195, + HGNC:19367, + HGNC_symbol:FAM13A ; biolink:category biolink:Gene . OMIM:613300 a owl:Class ; rdfs:label "FAM13AOS" ; IAO:0000142 PMID:15234000 ; - oboInOwl:hasDbXref UMLS:C2681464 ; oboInOwl:hasExactSynonym "FAM13AOS", "fam13a opposite strand", "fam13a1os" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285512 ; - skos:exactMatch HGNC_symbol:FAM13A-AS1 ; + skos:exactMatch UMLS:C2681464, + HGNC:19370, + HGNC_symbol:FAM13A-AS1 ; biolink:category biolink:Gene . OMIM:613301 a owl:Class ; @@ -314282,27 +327182,29 @@ OMIM:613301 a owl:Class ; PMID:25192046 ; RO:0002525 CHR:9606chr7q31.32 ; RO:0003303 OMIM:616030 ; - oboInOwl:hasDbXref UMLS:C1825290 ; oboInOwl:hasExactSynonym "FEZF1", "fez family zinc finger protein 1", "forebrain embryonic zinc finger", "zinc finger protein 312b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389549 ; - skos:exactMatch HGNC_symbol:FEZF1 ; + skos:exactMatch UMLS:C1825290, + HGNC:22788, + HGNC_symbol:FEZF1 ; biolink:category biolink:Gene . OMIM:613302 a owl:Class ; rdfs:label "ALKBH4" ; IAO:0000142 PMID:17979886 ; - oboInOwl:hasDbXref UMLS:C1823177 ; oboInOwl:hasExactSynonym "ALKBH4", "abh4", "alkb homolog 4, lysine demethylase", "alkb, e. coli, homolog of, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54784 ; - skos:exactMatch HGNC_symbol:ALKBH4 ; + skos:exactMatch UMLS:C1823177, + HGNC:21900, + HGNC_symbol:ALKBH4 ; biolink:category biolink:Gene . OMIM:613303 a owl:Class ; @@ -314310,40 +327212,43 @@ OMIM:613303 a owl:Class ; IAO:0000142 PMID:17979886, PMID:23177736, PMID:31439758 ; - oboInOwl:hasDbXref UMLS:C1823178 ; oboInOwl:hasExactSynonym "ALKBH5", "abh5", "alkb homolog 5, RNA demethylase", "alkb, e. coli, homolog of, 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54890 ; - skos:exactMatch HGNC_symbol:ALKBH5 ; + skos:exactMatch UMLS:C1823178, + HGNC:25996, + HGNC_symbol:ALKBH5 ; biolink:category biolink:Gene . OMIM:613304 a owl:Class ; rdfs:label "ALKBH6" ; IAO:0000142 PMID:17979886 ; - oboInOwl:hasDbXref UMLS:C1823179 ; oboInOwl:hasExactSynonym "ALKBH6", "abh6", "alkb homolog 6", "alkb, e. coli, homolog of, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84964 ; - skos:exactMatch HGNC_symbol:ALKBH6 ; + skos:exactMatch UMLS:C1823179, + HGNC:28243, + HGNC_symbol:ALKBH6 ; biolink:category biolink:Gene . OMIM:613305 a owl:Class ; rdfs:label "ALKBH7" ; IAO:0000142 PMID:17979886 ; - oboInOwl:hasDbXref UMLS:C1823180 ; oboInOwl:hasExactSynonym "ALKBH7", "abh7", "alkb homolog 7", "alkb, e. coli, homolog of, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84266 ; - skos:exactMatch HGNC_symbol:ALKBH7 ; + skos:exactMatch UMLS:C1823180, + HGNC:21306, + HGNC_symbol:ALKBH7 ; biolink:category biolink:Gene . OMIM:613306 a owl:Class ; @@ -314354,14 +327259,15 @@ OMIM:613306 a owl:Class ; PMID:31079898 ; RO:0002525 CHR:9606chr11q22.3 ; RO:0003303 OMIM:618504 ; - oboInOwl:hasDbXref UMLS:C1823181 ; oboInOwl:hasExactSynonym "ALKBH8", "abh8", "alkb homolog 8, trna methyltransferase", "alkb, e. coli, homolog of, 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91801 ; - skos:exactMatch HGNC_symbol:ALKBH8 ; + skos:exactMatch UMLS:C1823181, + HGNC:25189, + HGNC_symbol:ALKBH8 ; biolink:category biolink:Gene . OMIM:613311 a owl:Class ; @@ -314372,14 +327278,15 @@ OMIM:613311 a owl:Class ; PMID:23814038 ; RO:0002525 CHR:9606chr6p25.1 ; RO:0003303 OMIM:615595 ; - oboInOwl:hasDbXref UMLS:C1825924 ; oboInOwl:hasExactSynonym "LYRM4", "chromosome 6 open reading frame 149", "isd11, s. cerevisiae, homolog of", "lyr motif-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57128 ; - skos:exactMatch HGNC_symbol:LYRM4 ; + skos:exactMatch UMLS:C1825924, + HGNC:21365, + HGNC_symbol:LYRM4 ; biolink:category biolink:Gene . OMIM:613312 a owl:Class ; @@ -314387,22 +327294,23 @@ OMIM:613312 a owl:Class ; IAO:0000142 PMID:12881724, PMID:20137772, PMID:20137773 ; - oboInOwl:hasDbXref UMLS:C2750078 ; oboInOwl:hasExactSynonym "ARHR2", "hypophosphatemic rickets, autosomal recessive, 2" ; rdfs:subClassOf OMIMPS:193100 ; + skos:exactMatch UMLS:C2750078 ; biolink:category biolink:Disease . OMIM:613314 a owl:Class ; rdfs:label "RPL37A" ; IAO:0000142 PMID:19927161, PMID:8224875 ; - oboInOwl:hasDbXref UMLS:C1419671 ; oboInOwl:hasExactSynonym "RPL37A", "ribosomal protein l37a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6168 ; - skos:exactMatch HGNC_symbol:RPL37A ; + skos:exactMatch UMLS:C1419671, + HGNC:10348, + HGNC_symbol:RPL37A ; biolink:category biolink:Gene . OMIM:613315 a owl:Class ; @@ -314411,38 +327319,41 @@ OMIM:613315 a owl:Class ; PMID:1326959, PMID:19927161, PMID:8607819 ; - oboInOwl:hasDbXref UMLS:C1419677 ; oboInOwl:hasExactSynonym "RPL41", "hg12", "ribosomal protein l41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6171 ; - skos:exactMatch HGNC_symbol:RPL41 ; + skos:exactMatch UMLS:C1419677, + HGNC:10354, + HGNC_symbol:RPL41 ; biolink:category biolink:Gene . OMIM:613316 a owl:Class ; rdfs:label "WDFY4" ; IAO:0000142 PMID:10997877, PMID:30409884 ; - oboInOwl:hasDbXref UMLS:C1428836 ; oboInOwl:hasExactSynonym "WDFY4", "kiaa1607", "wd repeat- and fyve domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57705 ; - skos:exactMatch HGNC_symbol:WDFY4 ; + skos:exactMatch UMLS:C1428836, + HGNC:29323, + HGNC_symbol:WDFY4 ; biolink:category biolink:Gene . OMIM:613317 a owl:Class ; rdfs:label "DCAF11" ; IAO:0000142 PMID:19273594 ; - oboInOwl:hasDbXref UMLS:C1426815 ; oboInOwl:hasExactSynonym "DCAF11", "ddb1- and cul4-associated factor 11", "wd repeat-containing protein 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80344 ; - skos:exactMatch HGNC_symbol:DCAF11 ; + skos:exactMatch UMLS:C1426815, + HGNC:20258, + HGNC_symbol:DCAF11 ; biolink:category biolink:Gene . OMIM:613319 a owl:Class ; @@ -314451,46 +327362,49 @@ OMIM:613319 a owl:Class ; PMID:20096397, PMID:22402862, PMID:9673985 ; - oboInOwl:hasDbXref UMLS:C2750076 ; oboInOwl:hasExactSynonym "MMD3", "miyoshi muscular dystrophy 3", "miyoshi myopathy 3" ; rdfs:subClassOf OMIMPS:254130 ; + skos:exactMatch UMLS:C2750076 ; biolink:category biolink:Disease . OMIM:613321 a owl:Class ; rdfs:label "GXYLT1" ; IAO:0000142 PMID:19940119 ; - oboInOwl:hasDbXref UMLS:C1825374 ; oboInOwl:hasExactSynonym "GXYLT1", "glucoside xylosyltransferase 1", "glycosyltransferase 8 domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283464 ; - skos:exactMatch HGNC_symbol:GXYLT1 ; + skos:exactMatch UMLS:C1825374, + HGNC:27482, + HGNC_symbol:GXYLT1 ; biolink:category biolink:Gene . OMIM:613322 a owl:Class ; rdfs:label "GXYLT2" ; IAO:0000142 PMID:19940119 ; - oboInOwl:hasDbXref UMLS:C2239497 ; oboInOwl:hasExactSynonym "GXYLT2", "glucoside xylosyltransferase 2", "glycosyltransferase 8 domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:727936 ; - skos:exactMatch HGNC_symbol:GXYLT2 ; + skos:exactMatch UMLS:C2239497, + HGNC:33383, + HGNC_symbol:GXYLT2 ; biolink:category biolink:Gene . OMIM:613323 a owl:Class ; rdfs:label "FRMPD2" ; IAO:0000142 PMID:19706687 ; - oboInOwl:hasDbXref UMLS:C1539535 ; oboInOwl:hasExactSynonym "FRMPD2", "ferm and pdz domains-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143162 ; - skos:exactMatch HGNC_symbol:FRMPD2 ; + skos:exactMatch UMLS:C1539535, + HGNC:28572, + HGNC_symbol:FRMPD2 ; biolink:category biolink:Gene . OMIM:613324 a owl:Class ; @@ -314498,13 +327412,14 @@ OMIM:613324 a owl:Class ; IAO:0000142 PMID:17145773, PMID:17599059, PMID:19151759 ; - oboInOwl:hasDbXref UMLS:C1428000 ; oboInOwl:hasExactSynonym "SPATA13", "apc-stimulated guanine nucleotide exchange factor 2", "spermatogenesis-associated protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221178 ; - skos:exactMatch HGNC_symbol:SPATA13 ; + skos:exactMatch UMLS:C1428000, + HGNC:23222, + HGNC_symbol:SPATA13 ; biolink:category biolink:Gene . OMIM:613326 a owl:Class ; @@ -314517,14 +327432,15 @@ OMIM:613326 a owl:Class ; PMID:9718352 ; RO:0002525 CHR:9606chr8q22.3 ; RO:0003303 OMIM:222748 ; - oboInOwl:hasDbXref UMLS:C0342803, - UMLS:C1414144 ; oboInOwl:hasExactSynonym "5,6-dihydropyrimidine amidohydrolase", "DPYS", "dihydropyrimidinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1807 ; - skos:exactMatch HGNC_symbol:DPYS ; + skos:exactMatch UMLS:C0342803, + UMLS:C1414144, + HGNC:3013, + HGNC_symbol:DPYS ; biolink:category biolink:Gene . OMIM:613329 a owl:Class ; @@ -314536,9 +327452,9 @@ OMIM:613329 a owl:Class ; PMID:2496147, PMID:8757969, PMID:9207454 ; - oboInOwl:hasDbXref UMLS:C2750067 ; oboInOwl:hasExactSynonym "hyperfibrinolysis due to pai1 deficiency", "plasminogen activator inhibitor-1 deficiency" ; + skos:exactMatch UMLS:C2750067 ; biolink:category biolink:Disease . OMIM:613331 a owl:Class ; @@ -314546,13 +327462,14 @@ OMIM:613331 a owl:Class ; IAO:0000142 PMID:14722266, PMID:18305173, PMID:18389477 ; - oboInOwl:hasDbXref UMLS:C1537656 ; oboInOwl:hasExactSynonym "MARCHF1", "march 1", "membrane-associated ring-ch finger protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55016 ; - skos:exactMatch HGNC_symbol:MARCHF1 ; + skos:exactMatch UMLS:C1537656, + HGNC:26077, + HGNC_symbol:MARCHF1 ; biolink:category biolink:Gene . OMIM:613332 a owl:Class ; @@ -314560,13 +327477,14 @@ OMIM:613332 a owl:Class ; IAO:0000142 PMID:14722266, PMID:15689499, PMID:18305173 ; - oboInOwl:hasDbXref UMLS:C1537657 ; oboInOwl:hasExactSynonym "MARCHF2", "march 2", "membrane-associated ring-ch finger protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51257 ; - skos:exactMatch HGNC_symbol:MARCHF2 ; + skos:exactMatch UMLS:C1537657, + HGNC:28038, + HGNC_symbol:MARCHF2 ; biolink:category biolink:Gene . OMIM:613333 a owl:Class ; @@ -314574,13 +327492,14 @@ OMIM:613333 a owl:Class ; IAO:0000142 PMID:14722266, PMID:16428329, PMID:18305173 ; - oboInOwl:hasDbXref UMLS:C1537658 ; oboInOwl:hasExactSynonym "MARCHF3", "march 3", "membrane-associated ring-ch finger protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115123 ; - skos:exactMatch HGNC_symbol:MARCHF3 ; + skos:exactMatch UMLS:C1537658, + HGNC:28728, + HGNC_symbol:MARCHF3 ; biolink:category biolink:Gene . OMIM:613334 a owl:Class ; @@ -314588,13 +327507,14 @@ OMIM:613334 a owl:Class ; IAO:0000142 PMID:14722266, PMID:18305173, PMID:19901269 ; - oboInOwl:hasDbXref UMLS:C1537662 ; oboInOwl:hasExactSynonym "MARCHF7", "march 7", "membrane-associated ring-ch finger protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64844 ; - skos:exactMatch HGNC_symbol:MARCHF7 ; + skos:exactMatch UMLS:C1537662, + HGNC:17393, + HGNC_symbol:MARCHF7 ; biolink:category biolink:Gene . OMIM:613335 a owl:Class ; @@ -314603,14 +327523,15 @@ OMIM:613335 a owl:Class ; PMID:14722266, PMID:18305173, PMID:18389477 ; - oboInOwl:hasDbXref UMLS:C1537663 ; oboInOwl:hasExactSynonym "MARCHF8", "march 8", "membrane-associated ring-ch finger protein 8", "mir" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220972 ; - skos:exactMatch HGNC_symbol:MARCHF8 ; + skos:exactMatch UMLS:C1537663, + HGNC:23356, + HGNC_symbol:MARCHF8 ; biolink:category biolink:Gene . OMIM:613336 a owl:Class ; @@ -314618,38 +327539,41 @@ OMIM:613336 a owl:Class ; IAO:0000142 PMID:14722266, PMID:17174307, PMID:18305173 ; - oboInOwl:hasDbXref UMLS:C1537664 ; oboInOwl:hasExactSynonym "MARCHF9", "march 9", "membrane-associated ring-ch finger protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92979 ; - skos:exactMatch HGNC_symbol:MARCHF9 ; + skos:exactMatch UMLS:C1537664, + HGNC:25139, + HGNC_symbol:MARCHF9 ; biolink:category biolink:Gene . OMIM:613337 a owl:Class ; rdfs:label "MARCHF10" ; IAO:0000142 PMID:17604280, PMID:21937444 ; - oboInOwl:hasDbXref UMLS:C1826841 ; oboInOwl:hasExactSynonym "MARCHF10", "march 10", "membrane-associated ring-ch finger protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162333 ; - skos:exactMatch HGNC_symbol:MARCHF10 ; + skos:exactMatch UMLS:C1826841, + HGNC:26655, + HGNC_symbol:MARCHF10 ; biolink:category biolink:Gene . OMIM:613338 a owl:Class ; rdfs:label "MARCHF11" ; IAO:0000142 PMID:17604280 ; - oboInOwl:hasDbXref UMLS:C2239674 ; oboInOwl:hasExactSynonym "MARCHF11", "march 11", "membrane-associated ring-ch finger protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441061 ; - skos:exactMatch HGNC_symbol:MARCHF11 ; + skos:exactMatch UMLS:C2239674, + HGNC:33609, + HGNC_symbol:MARCHF11 ; biolink:category biolink:Gene . OMIM:613342 a owl:Class ; @@ -314659,17 +327583,17 @@ OMIM:613342 a owl:Class ; PMID:8362904, PMID:8823421, PMID:9375727 ; - oboInOwl:hasDbXref UMLS:C2931420 ; - oboInOwl:hasExactSynonym "mseleni joint disease" . + oboInOwl:hasExactSynonym "mseleni joint disease" ; + skos:exactMatch UMLS:C2931420 . OMIM:613343 a owl:Class ; rdfs:label "handigodu joint disease" ; IAO:0000142 PMID:7886470, PMID:9375727 ; - oboInOwl:hasDbXref UMLS:C3150545 ; oboInOwl:hasExactSynonym "handigodu joint disease", "hjd", "spondyloepimetaphyseal dysplasia, handigodu iia" ; + skos:exactMatch UMLS:C3150545 ; biolink:category biolink:Disease . OMIM:613344 a owl:Class ; @@ -314679,13 +327603,14 @@ OMIM:613344 a owl:Class ; PMID:30120214 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:618613 ; - oboInOwl:hasDbXref UMLS:C2681629 ; oboInOwl:hasExactSynonym "KIAA1549", "kiaa1549 gene", "kiaa1549/braf fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57670 ; - skos:exactMatch HGNC_symbol:KIAA1549 ; + skos:exactMatch UMLS:C2681629, + HGNC:22219, + HGNC_symbol:KIAA1549 ; biolink:category biolink:Gene . OMIM:613345 a owl:Class ; @@ -314703,21 +327628,22 @@ OMIM:613345 a owl:Class ; PMID:19118277, PMID:21490317, PMID:6325904 ; - oboInOwl:hasDbXref UMLS:C2750061 ; oboInOwl:hasExactSynonym "HOKPP2", "hypokalemic periodic paralysis, iia 2" ; + skos:exactMatch UMLS:C2750061 ; biolink:category biolink:Disease . OMIM:613346 a owl:Class ; rdfs:label "SHISA9" ; IAO:0000142 PMID:20185686 ; - oboInOwl:hasDbXref UMLS:C2750060 ; oboInOwl:hasExactSynonym "SHISA9", "cystine-knot ampa receptor-modulating protein, 44-kd", "shisa family, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729993 ; - skos:exactMatch HGNC_symbol:SHISA9 ; + skos:exactMatch UMLS:C2750060, + HGNC:37231, + HGNC_symbol:SHISA9 ; biolink:category biolink:Gene . OMIM:613347 a owl:Class ; @@ -314729,9 +327655,9 @@ OMIM:613347 a owl:Class ; PMID:7597059, PMID:7816807, PMID:9140390 ; - oboInOwl:hasDbXref UMLS:C3150546 ; oboInOwl:hasExactSynonym "pancreatic cancer, susceptibility to, 2", "pnca2" ; + skos:exactMatch UMLS:C3150546 ; biolink:category biolink:Disease . OMIM:613349 a owl:Class ; @@ -314767,14 +327693,15 @@ OMIM:613349 a owl:Class ; PMID:8430317 ; RO:0002525 CHR:9606chr10q26.13 ; RO:0003303 OMIM:258870 ; - oboInOwl:hasDbXref UMLS:C1417917 ; oboInOwl:hasExactSynonym "OAT", "ornithine aminotransferase", "ornithine delta-aminotransferase", "ornithine keto acid aminotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4942 ; - skos:exactMatch HGNC_symbol:OAT ; + skos:exactMatch UMLS:C1417917, + HGNC:8091, + HGNC_symbol:OAT ; biolink:category biolink:Gene . OMIM:613350 a owl:Class ; @@ -314787,10 +327714,6 @@ OMIM:613350 a owl:Class ; PMID:21110228 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:211530 ; - oboInOwl:hasDbXref UMLS:C0015708, - UMLS:C0796274, - UMLS:C1424064, - UMLS:C4017306 ; oboInOwl:hasExactSynonym "SLC52A3", "chromosome 20 open reading frame 54", "rfvt3", @@ -314798,7 +327721,12 @@ OMIM:613350 a owl:Class ; "solute carrier family 52 (riboflavin transporter), member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113278 ; - skos:exactMatch HGNC_symbol:SLC52A3 ; + skos:exactMatch UMLS:C0015708, + UMLS:C0796274, + UMLS:C1424064, + UMLS:C4017306, + HGNC:16187, + HGNC_symbol:SLC52A3 ; biolink:category biolink:Gene . OMIM:613351 a owl:Class ; @@ -314807,12 +327735,13 @@ OMIM:613351 a owl:Class ; PMID:19065146, PMID:21865595, PMID:23468526 ; - oboInOwl:hasDbXref UMLS:C1427261 ; oboInOwl:hasExactSynonym "ARHGAP18", "rho gtpase-activating protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93663 ; - skos:exactMatch HGNC_symbol:ARHGAP18 ; + skos:exactMatch UMLS:C1427261, + HGNC:21035, + HGNC_symbol:ARHGAP18 ; biolink:category biolink:Gene . OMIM:613352 a owl:Class ; @@ -314823,13 +327752,14 @@ OMIM:613352 a owl:Class ; PMID:29522154 ; RO:0002525 CHR:9606chr3q25.32 ; RO:0003303 OMIM:618402 ; - oboInOwl:hasDbXref UMLS:C1539709 ; oboInOwl:hasExactSynonym "RSRC1", "arginine/serine-rich coiled-coil protein 1", "sr-related protein, 53-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51319 ; - skos:exactMatch HGNC_symbol:RSRC1 ; + skos:exactMatch UMLS:C1539709, + HGNC:24152, + HGNC_symbol:RSRC1 ; biolink:category biolink:Gene . OMIM:613354 a owl:Class ; @@ -314839,13 +327769,14 @@ OMIM:613354 a owl:Class ; PMID:20170899 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:613307 ; - oboInOwl:hasDbXref UMLS:C1428630 ; oboInOwl:hasExactSynonym "TPRN", "chromosome 9 open reading frame 75", "taperin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286262 ; - skos:exactMatch HGNC_symbol:TPRN ; + skos:exactMatch UMLS:C1428630, + HGNC:26894, + HGNC_symbol:TPRN ; biolink:category biolink:Gene . OMIM:613355 a owl:Class ; @@ -314859,8 +327790,8 @@ OMIM:613355 a owl:Class ; PMID:30828993, PMID:31151956 ; RO:0002525 CHR:9606chr17q23.1-q23.2 ; - oboInOwl:hasDbXref UMLS:C3150607 ; oboInOwl:hasExactSynonym "chromosome 17q23.1-q23.2 deletion syndrome" ; + skos:exactMatch UMLS:C3150607 ; biolink:category biolink:Disease . OMIM:613356 a owl:Class ; @@ -314868,47 +327799,51 @@ OMIM:613356 a owl:Class ; IAO:0000142 PMID:19710467, PMID:25015823, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C3146763 ; oboInOwl:hasExactSynonym "TRIL", "kiaa0644", "tlr4 interactor with leucine-rich repeats" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9865 ; - skos:exactMatch HGNC_symbol:TRIL ; + skos:exactMatch UMLS:C3146763, + HGNC:22200, + HGNC_symbol:TRIL ; biolink:category biolink:Gene . OMIM:613357 a owl:Class ; rdfs:label "FIBCD1" ; IAO:0000142 PMID:19710473, PMID:19892701 ; - oboInOwl:hasDbXref UMLS:C1428535 ; oboInOwl:hasExactSynonym "FIBCD1", "fibrinogen c domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84929 ; - skos:exactMatch HGNC_symbol:FIBCD1 ; + skos:exactMatch UMLS:C1428535, + HGNC:25922, + HGNC_symbol:FIBCD1 ; biolink:category biolink:Gene . OMIM:613358 a owl:Class ; rdfs:label "ALDH16A1" ; IAO:0000142 PMID:19184135 ; - oboInOwl:hasDbXref UMLS:C1538261 ; oboInOwl:hasExactSynonym "ALDH16A1", "aldehyde dehydrogenase 16 family, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126133 ; - skos:exactMatch HGNC_symbol:ALDH16A1 ; + skos:exactMatch UMLS:C1538261, + HGNC:28114, + HGNC_symbol:ALDH16A1 ; biolink:category biolink:Gene . OMIM:613359 a owl:Class ; rdfs:label "LYPD6" ; IAO:0000142 PMID:19653121 ; - oboInOwl:hasDbXref UMLS:C1825921 ; oboInOwl:hasExactSynonym "LYPD6", "ly6/plaur domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130574 ; - skos:exactMatch HGNC_symbol:LYPD6 ; + skos:exactMatch UMLS:C1825921, + HGNC:28751, + HGNC_symbol:LYPD6 ; biolink:category biolink:Gene . OMIM:613360 a owl:Class ; @@ -314918,37 +327853,40 @@ OMIM:613360 a owl:Class ; PMID:25983245 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:616502 ; - oboInOwl:hasDbXref UMLS:C1823338 ; oboInOwl:hasExactSynonym "DRAM2", "damage-regulated autophagy modulator 2", "transmembrane protein 77" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128338 ; - skos:exactMatch HGNC_symbol:DRAM2 ; + skos:exactMatch UMLS:C1823338, + HGNC:28769, + HGNC_symbol:DRAM2 ; biolink:category biolink:Gene . OMIM:613361 a owl:Class ; rdfs:label "SLC18B1" ; IAO:0000142 PMID:19697161 ; - oboInOwl:hasDbXref UMLS:C1427620 ; oboInOwl:hasExactSynonym "SLC18B1", "chromosome 6 open reading frame 192", "solute carrier family 18, member b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116843 ; - skos:exactMatch HGNC_symbol:SLC18B1 ; + skos:exactMatch UMLS:C1427620, + HGNC:21573, + HGNC_symbol:SLC18B1 ; biolink:category biolink:Gene . OMIM:613362 a owl:Class ; rdfs:label "CINP" ; IAO:0000142 PMID:16082200, PMID:19889979 ; - oboInOwl:hasDbXref UMLS:C2829164 ; oboInOwl:hasExactSynonym "CINP", "cdk2-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51550 ; - skos:exactMatch HGNC_symbol:CINP ; + skos:exactMatch UMLS:C2829164, + HGNC:23789, + HGNC_symbol:CINP ; biolink:category biolink:Gene . OMIM:613363 a owl:Class ; @@ -314959,62 +327897,67 @@ OMIM:613363 a owl:Class ; PMID:24183451 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:615633 ; - oboInOwl:hasDbXref UMLS:C1428686 ; oboInOwl:hasExactSynonym "WDR34", "wd repeat-containing protein 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89891 ; - skos:exactMatch HGNC_symbol:DYNC2I2 ; + skos:exactMatch UMLS:C1428686, + HGNC:28296, + HGNC_symbol:DYNC2I2 ; biolink:category biolink:Gene . OMIM:613365 a owl:Class ; rdfs:label "SLCO6A1" ; IAO:0000142 PMID:12677006 ; - oboInOwl:hasDbXref UMLS:C1428159 ; oboInOwl:hasExactSynonym "SLCO6A1", "gonad-specific transporter", "solute carrier organic anion transporter family, member 6a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133482 ; - skos:exactMatch HGNC_symbol:SLCO6A1 ; + skos:exactMatch UMLS:C1428159, + HGNC:23613, + HGNC_symbol:SLCO6A1 ; biolink:category biolink:Gene . OMIM:613366 a owl:Class ; rdfs:label "SLC10A6" ; IAO:0000142 PMID:17491011 ; - oboInOwl:hasDbXref UMLS:C1822739 ; oboInOwl:hasExactSynonym "SLC10A6", "sodium-dependent organic anion transporter", "solute carrier family 10 (sodium/bile acid cotransporter family), member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345274 ; - skos:exactMatch HGNC_symbol:SLC10A6 ; + skos:exactMatch UMLS:C1822739, + HGNC:30603, + HGNC_symbol:SLC10A6 ; biolink:category biolink:Gene . OMIM:613367 a owl:Class ; rdfs:label "LIN54" ; IAO:0000142 PMID:17671431, PMID:19725879 ; - oboInOwl:hasDbXref UMLS:C1825821 ; oboInOwl:hasExactSynonym "LIN54", "lin54, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132660 ; - skos:exactMatch HGNC_symbol:LIN54 ; + skos:exactMatch UMLS:C1825821, + HGNC:25397, + HGNC_symbol:LIN54 ; biolink:category biolink:Gene . OMIM:613368 a owl:Class ; rdfs:label "CARNS1" ; IAO:0000142 PMID:10718198, PMID:20097752 ; - oboInOwl:hasDbXref UMLS:C2681177 ; oboInOwl:hasExactSynonym "CARNS1", "atp-grasp domain-containing protein 1", "carnosine synthase 1", "kiaa1394" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57571 ; - skos:exactMatch HGNC_symbol:CARNS1 ; + skos:exactMatch UMLS:C2681177, + HGNC:29268, + HGNC_symbol:CARNS1 ; biolink:category biolink:Gene . OMIM:613369 a owl:Class ; @@ -315022,7 +327965,6 @@ OMIM:613369 a owl:Class ; IAO:0000142 PMID:10727850, PMID:12234937, PMID:19377511 ; - oboInOwl:hasDbXref UMLS:C1425699 ; oboInOwl:hasExactSynonym "DDX42", "RNA helicase-like protein", "dead-box helicase 42", @@ -315030,7 +327972,9 @@ OMIM:613369 a owl:Class ; "splicing factor 3b, 125-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11325 ; - skos:exactMatch HGNC_symbol:DDX42 ; + skos:exactMatch UMLS:C1425699, + HGNC:18676, + HGNC_symbol:DDX42 ; biolink:category biolink:Gene . OMIM:613372 a owl:Class ; @@ -315039,7 +327983,6 @@ OMIM:613372 a owl:Class ; PMID:20228063, PMID:25952549, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1427868 ; oboInOwl:hasExactSynonym "UFL1", "kiaa0776", "novel lzap-binding protein", @@ -315047,7 +327990,9 @@ OMIM:613372 a owl:Class ; "ufm1-specific ligase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23376 ; - skos:exactMatch HGNC_symbol:UFL1 ; + skos:exactMatch UMLS:C1427868, + HGNC:23039, + HGNC_symbol:UFL1 ; biolink:category biolink:Gene . OMIM:613373 a owl:Class ; @@ -315058,25 +328003,27 @@ OMIM:613373 a owl:Class ; PMID:31539032 ; RO:0002525 CHR:9606chr3q27.1 ; RO:0003303 OMIM:615127 ; - oboInOwl:hasDbXref UMLS:C1538125 ; oboInOwl:hasExactSynonym "YEATS2", "kiaa1197", "yeats domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55689 ; - skos:exactMatch HGNC_symbol:YEATS2 ; + skos:exactMatch UMLS:C1538125, + HGNC:25489, + HGNC_symbol:YEATS2 ; biolink:category biolink:Gene . OMIM:613374 a owl:Class ; rdfs:label "CCDC101" ; IAO:0000142 PMID:18838386 ; - oboInOwl:hasDbXref UMLS:C1824628 ; oboInOwl:hasExactSynonym "CCDC101", "coiled-coil domain-containing protein 101", "staf36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112869 ; - skos:exactMatch HGNC_symbol:SGF29 ; + skos:exactMatch UMLS:C1824628, + HGNC:25156, + HGNC_symbol:SGF29 ; biolink:category biolink:Gene . OMIM:613377 a owl:Class ; @@ -315084,38 +328031,41 @@ OMIM:613377 a owl:Class ; IAO:0000142 PMID:19807924, PMID:19945436, PMID:20220755 ; - oboInOwl:hasDbXref UMLS:C1428570 ; oboInOwl:hasExactSynonym "SH3RF2", "heart protein phosphatase 1-binding protein", "plenty of sh3 domains 3", "sh3 domain-containing ring finger protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153769 ; - skos:exactMatch HGNC_symbol:SH3RF2 ; + skos:exactMatch UMLS:C1428570, + HGNC:26299, + HGNC_symbol:SH3RF2 ; biolink:category biolink:Gene . OMIM:613378 a owl:Class ; rdfs:label "A2LD1" ; IAO:0000142 PMID:20110353 ; - oboInOwl:hasDbXref UMLS:C2681400 ; oboInOwl:hasExactSynonym "A2LD1", "aig2-like domain-containing protein 1", "gamma-glutamylamine cyclotransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:87769 ; - skos:exactMatch HGNC_symbol:GGACT ; + skos:exactMatch UMLS:C2681400, + HGNC:25100, + HGNC_symbol:GGACT ; biolink:category biolink:Gene . OMIM:613379 a owl:Class ; rdfs:label "CMBL" ; IAO:0000142 PMID:20177059 ; - oboInOwl:hasDbXref UMLS:C1824759 ; oboInOwl:hasExactSynonym "CMBL", "carboxymethylenebutenolidase, pseudomonas, homolog of", "carboxymethylenebutenolidase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134147 ; - skos:exactMatch HGNC_symbol:CMBL ; + skos:exactMatch UMLS:C1824759, + HGNC:25090, + HGNC_symbol:CMBL ; biolink:category biolink:Gene . OMIM:613380 a owl:Class ; @@ -315126,13 +328076,14 @@ OMIM:613380 a owl:Class ; PMID:19253379, PMID:7510254, PMID:9435283 ; - oboInOwl:hasDbXref UMLS:C1415624 ; oboInOwl:hasExactSynonym "HMX3", "h6 family homeobox 3", "nkx5.1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340784 ; - skos:exactMatch HGNC_symbol:HMX3 ; + skos:exactMatch UMLS:C1415624, + HGNC:5019, + HGNC_symbol:HMX3 ; biolink:category biolink:Gene . OMIM:613381 a owl:Class ; @@ -315194,24 +328145,26 @@ OMIM:613381 a owl:Class ; PMID:9813456 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:236200 ; - oboInOwl:hasDbXref UMLS:C1439329 ; oboInOwl:hasExactSynonym "CBS", "cystathionine beta-synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:875 ; - skos:exactMatch HGNC_symbol:CBS ; + skos:exactMatch UMLS:C1439329, + HGNC:1550, + HGNC_symbol:CBS ; biolink:category biolink:Gene . OMIM:613383 a owl:Class ; rdfs:label "ANKRD54" ; IAO:0000142 PMID:19064729 ; - oboInOwl:hasDbXref UMLS:C1823688 ; oboInOwl:hasExactSynonym "ANKRD54", "ankyrin repeat domain-containing protein 54", "lyn-interacting ankyrin repeat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129138 ; - skos:exactMatch HGNC_symbol:ANKRD54 ; + skos:exactMatch UMLS:C1823688, + HGNC:25185, + HGNC_symbol:ANKRD54 ; biolink:category biolink:Gene . OMIM:613384 a owl:Class ; @@ -315220,13 +328173,14 @@ OMIM:613384 a owl:Class ; PMID:11980906, PMID:12807435, PMID:18216018 ; - oboInOwl:hasDbXref UMLS:C1427008 ; oboInOwl:hasExactSynonym "CCNL1", "activity- and neurotransmitter-induced gene 6a", "cyclin l1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57018 ; - skos:exactMatch HGNC_symbol:CCNL1 ; + skos:exactMatch UMLS:C1427008, + HGNC:20569, + HGNC_symbol:CCNL1 ; biolink:category biolink:Gene . OMIM:613386 a owl:Class ; @@ -315243,24 +328197,25 @@ OMIM:613386 a owl:Class ; PMID:29805043 ; RO:0002525 CHR:9606chr13q12.3 ; RO:0003303 OMIM:618048 ; - oboInOwl:hasDbXref UMLS:C1826645 ; oboInOwl:hasExactSynonym "POMP", "proteasome maturation protein", "proteassemblin", "ump1, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51371 ; - skos:exactMatch HGNC_symbol:POMP ; + skos:exactMatch UMLS:C1826645, + HGNC:20330, + HGNC_symbol:POMP ; biolink:category biolink:Gene . OMIM:613388 a owl:Class ; rdfs:label "fanconi renotubular syndrome 2" ; IAO:0000142 PMID:20335586, PMID:2842681 ; - oboInOwl:hasDbXref UMLS:C3150652 ; oboInOwl:hasExactSynonym "FRTS2", "fanconi renotubular syndrome 2" ; rdfs:subClassOf OMIMPS:134600 ; + skos:exactMatch UMLS:C3150652 ; biolink:category biolink:Disease . OMIM:613389 a owl:Class ; @@ -315268,7 +328223,6 @@ OMIM:613389 a owl:Class ; IAO:0000142 PMID:12351693, PMID:12923172, PMID:18687783 ; - oboInOwl:hasDbXref UMLS:C1422214 ; oboInOwl:hasExactSynonym "SLCO1C1", "organic anion transporter f", "organic anion transporter polypeptide 14", @@ -315276,17 +328230,19 @@ OMIM:613389 a owl:Class ; "solute carrier organic anion transporter family, member 1c1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53919 ; - skos:exactMatch HGNC_symbol:SLCO1C1 ; + skos:exactMatch UMLS:C1422214, + HGNC:13819, + HGNC_symbol:SLCO1C1 ; biolink:category biolink:Gene . OMIM:613390 a owl:Class ; rdfs:label "fanconi anemia, complementation group o" ; IAO:0000142 PMID:20400963, PMID:21568838 ; - oboInOwl:hasDbXref UMLS:C3150653 ; oboInOwl:hasExactSynonym "FANCO", "fanconi anemia, complementation group o" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C3150653 ; biolink:category biolink:Disease . OMIM:613394 a owl:Class ; @@ -315295,27 +328251,29 @@ OMIM:613394 a owl:Class ; PMID:20223197, PMID:21079996, PMID:24057215 ; - oboInOwl:hasDbXref UMLS:C1537791 ; oboInOwl:hasExactSynonym "MIR138-1", "micro RNA 138-1", "mirn138-1", "mirna138-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406929 ; - skos:exactMatch HGNC_symbol:MIR138-1 ; + skos:exactMatch UMLS:C1537791, + HGNC:31524, + HGNC_symbol:MIR138-1 ; biolink:category biolink:Gene . OMIM:613395 a owl:Class ; rdfs:label "MIR138-2" ; IAO:0000142 PMID:19465924 ; - oboInOwl:hasDbXref UMLS:C1537792 ; oboInOwl:hasExactSynonym "MIR138-2", "micro RNA 138-2", "mirn138-2", "mirna138-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406930 ; - skos:exactMatch HGNC_symbol:MIR138-2 ; + skos:exactMatch UMLS:C1537792, + HGNC:31525, + HGNC_symbol:MIR138-2 ; biolink:category biolink:Gene . OMIM:613396 a owl:Class ; @@ -315323,13 +328281,14 @@ OMIM:613396 a owl:Class ; IAO:0000142 PMID:11920614, PMID:15472897, PMID:16288839 ; - oboInOwl:hasDbXref UMLS:C1424496 ; oboInOwl:hasExactSynonym "DSCR8", "down syndrome critical region gene 8", "malignant melanoma-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84677 ; - skos:exactMatch HGNC_symbol:DSCR8 ; + skos:exactMatch UMLS:C1424496, + HGNC:16707, + HGNC_symbol:DSCR8 ; biolink:category biolink:Gene . OMIM:613397 a owl:Class ; @@ -315341,26 +328300,28 @@ OMIM:613397 a owl:Class ; PMID:9664034 ; RO:0002525 CHR:9606chr12q14.1 ; RO:0003303 OMIM:618594 ; - oboInOwl:hasDbXref UMLS:C1422473 ; oboInOwl:hasExactSynonym "AVIL", "advillin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10677 ; - skos:exactMatch HGNC_symbol:AVIL ; + skos:exactMatch UMLS:C1422473, + HGNC:14188, + HGNC_symbol:AVIL ; biolink:category biolink:Gene . OMIM:613400 a owl:Class ; rdfs:label "ADI1" ; IAO:0000142 PMID:11602742, PMID:14718544 ; - oboInOwl:hasDbXref UMLS:C1826411 ; oboInOwl:hasExactSynonym "ADI1", "acireductone dioxygenase 1", "mt1-mmp cytoplasmic tail-binding protein 1", "submergence-induced protein-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55256 ; - skos:exactMatch HGNC_symbol:ADI1 ; + skos:exactMatch UMLS:C1826411, + HGNC:30576, + HGNC_symbol:ADI1 ; biolink:category biolink:Gene . OMIM:613401 a owl:Class ; @@ -315370,7 +328331,6 @@ OMIM:613401 a owl:Class ; PMID:20190753 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:613404 ; - oboInOwl:hasDbXref UMLS:C2829040 ; oboInOwl:hasExactSynonym "VIPAS39", "chromosome 14 open reading frame 133", "spe39, c. elegans, homolog of", @@ -315378,7 +328338,9 @@ OMIM:613401 a owl:Class ; "vps33b-interacting protein, apical-basolateral polarity regulator, spe39 homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63894 ; - skos:exactMatch HGNC_symbol:VIPAS39 ; + skos:exactMatch UMLS:C2829040, + HGNC:20347, + HGNC_symbol:VIPAS39 ; biolink:category biolink:Gene . OMIM:613403 a owl:Class ; @@ -315388,13 +328350,14 @@ OMIM:613403 a owl:Class ; PMID:25389632 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:171300 ; - oboInOwl:hasDbXref UMLS:C1823386, - UMLS:C3149711 ; oboInOwl:hasExactSynonym "TMEM127", "transmembrane protein 127" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55654 ; - skos:exactMatch HGNC_symbol:TMEM127 ; + skos:exactMatch UMLS:C1823386, + UMLS:C3149711, + HGNC:26038, + HGNC_symbol:TMEM127 ; biolink:category biolink:Gene . OMIM:613405 a owl:Class ; @@ -315402,25 +328365,27 @@ OMIM:613405 a owl:Class ; IAO:0000142 PMID:19920351 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:613418 ; - oboInOwl:hasDbXref UMLS:C2829703 ; oboInOwl:hasExactSynonym "MIR2861", "micro RNA 2861", "mirn2861", "mirna 2861" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100422910 ; - skos:exactMatch HGNC_symbol:MIR2861 ; + skos:exactMatch UMLS:C2829703, + HGNC:38221, + HGNC_symbol:MIR2861 ; biolink:category biolink:Gene . OMIM:613408 a owl:Class ; rdfs:label "CCDC122" ; IAO:0000142 PMID:20393182 ; - oboInOwl:hasDbXref UMLS:C1824649 ; oboInOwl:hasExactSynonym "CCDC122", "coiled-coil domain-containing protein 122" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160857 ; - skos:exactMatch HGNC_symbol:CCDC122 ; + skos:exactMatch UMLS:C1824649, + HGNC:26478, + HGNC_symbol:CCDC122 ; biolink:category biolink:Gene . OMIM:613409 a owl:Class ; @@ -315432,15 +328397,16 @@ OMIM:613409 a owl:Class ; PMID:31978345 ; RO:0002525 CHR:9606chr13q14.11 ; RO:0003303 OMIM:618795 ; - oboInOwl:hasDbXref UMLS:C1824389, - UMLS:C3495559 ; oboInOwl:hasExactSynonym "LACC1", "chromosome 13 open reading frame 31", "fatty acid metabolism-immunity nexus protein", "laccase (multicopper reductase) domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144811 ; - skos:exactMatch HGNC_symbol:LACC1 ; + skos:exactMatch UMLS:C1824389, + UMLS:C3495559, + HGNC:26789, + HGNC_symbol:LACC1 ; biolink:category biolink:Gene . OMIM:613413 a owl:Class ; @@ -315455,36 +328421,39 @@ OMIM:613413 a owl:Class ; PMID:29444210 ; RO:0002525 CHR:9606chr7p21.3 ; RO:0003303 OMIM:617964 ; - oboInOwl:hasDbXref UMLS:C1823367 ; oboInOwl:hasExactSynonym "TMEM106B", "transmembrane protein 106b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54664 ; - skos:exactMatch HGNC_symbol:TMEM106B ; + skos:exactMatch UMLS:C1823367, + HGNC:22407, + HGNC_symbol:TMEM106B ; biolink:category biolink:Gene . OMIM:613414 a owl:Class ; rdfs:label "IL17REL" ; IAO:0000142 PMID:20228798 ; - oboInOwl:hasDbXref UMLS:C2239533 ; oboInOwl:hasExactSynonym "IL17REL", "interleukin 17 receptor e-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400935 ; - skos:exactMatch HGNC_symbol:IL17REL ; + skos:exactMatch UMLS:C2239533, + HGNC:33808, + HGNC_symbol:IL17REL ; biolink:category biolink:Gene . OMIM:613415 a owl:Class ; rdfs:label "CKMT1A" ; IAO:0000142 PMID:17098888 ; - oboInOwl:hasDbXref UMLS:C1538467 ; oboInOwl:hasExactSynonym "CKMT1A", "ckmt1, telomeric copy", "creatine kinase, mitochondrial 1, telomeric copy", "creatine kinase, mitochondrial 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:548596 ; - skos:exactMatch HGNC_symbol:CKMT1A ; + skos:exactMatch UMLS:C1538467, + HGNC:31736, + HGNC_symbol:CKMT1A ; biolink:category biolink:Gene . OMIM:613416 a owl:Class ; @@ -315493,41 +328462,44 @@ OMIM:613416 a owl:Class ; PMID:11572484, PMID:15342343, PMID:1621245 ; - oboInOwl:hasDbXref UMLS:C1427702 ; oboInOwl:hasExactSynonym "SCIN", "adseverin", "kiaa1905", "scinderin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85477 ; - skos:exactMatch HGNC_symbol:SCIN ; + skos:exactMatch UMLS:C1427702, + HGNC:21695, + HGNC_symbol:SCIN ; biolink:category biolink:Gene . OMIM:613417 a owl:Class ; rdfs:label "FAM48A" ; IAO:0000142 PMID:11340631, PMID:16751104 ; - oboInOwl:hasDbXref UMLS:C1539449 ; oboInOwl:hasExactSynonym "FAM48A", "chromosome 13 open reading frame 19", "family with sequence similarity 48, member a", "p38-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55578 ; - skos:exactMatch HGNC_symbol:SUPT20H ; + skos:exactMatch UMLS:C1539449, + HGNC:20596, + HGNC_symbol:SUPT20H ; biolink:category biolink:Gene . OMIM:613419 a owl:Class ; rdfs:label "ZSCAN4" ; IAO:0000142 PMID:17553482, PMID:20336070 ; - oboInOwl:hasDbXref UMLS:C1538256 ; oboInOwl:hasExactSynonym "ZSCAN4", "zinc finger protein 494", "zinc finger- and scan domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201516 ; - skos:exactMatch HGNC_symbol:ZSCAN4 ; + skos:exactMatch UMLS:C1538256, + HGNC:23709, + HGNC_symbol:ZSCAN4 ; biolink:category biolink:Gene . OMIM:613420 a owl:Class ; @@ -315543,50 +328515,54 @@ OMIM:613420 a owl:Class ; PMID:9383029 ; RO:0002525 CHR:9606chr18q11.2 ; RO:0003303 OMIM:181270 ; - oboInOwl:hasDbXref UMLS:C1425395, - UMLS:C1867020 ; oboInOwl:hasExactSynonym "KCTD1", "potassium channel tetramerization domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284252 ; - skos:exactMatch HGNC_symbol:KCTD1 ; + skos:exactMatch UMLS:C1425395, + UMLS:C1867020, + HGNC:18249, + HGNC_symbol:KCTD1 ; biolink:category biolink:Gene . OMIM:613421 a owl:Class ; rdfs:label "KCTD10" ; IAO:0000142 PMID:15982757, PMID:22179047 ; - oboInOwl:hasDbXref UMLS:C1428009 ; oboInOwl:hasExactSynonym "KCTD10", "potassium channel tetramerization domain-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83892 ; - skos:exactMatch HGNC_symbol:KCTD10 ; + skos:exactMatch UMLS:C1428009, + HGNC:23236, + HGNC_symbol:KCTD10 ; biolink:category biolink:Gene . OMIM:613422 a owl:Class ; rdfs:label "KCTD2" ; IAO:0000142 PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1427474 ; oboInOwl:hasExactSynonym "KCTD2", "kiaa0176", "potassium channel tetramerization domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23510 ; - skos:exactMatch HGNC_symbol:KCTD2 ; + skos:exactMatch UMLS:C1427474, + HGNC:21294, + HGNC_symbol:KCTD2 ; biolink:category biolink:Gene . OMIM:613423 a owl:Class ; rdfs:label "KCTD16" ; IAO:0000142 PMID:10718198, PMID:20400944 ; - oboInOwl:hasDbXref UMLS:C1428818 ; oboInOwl:hasExactSynonym "KCTD16", "kiaa1317", "potassium channel tetramerization domain-containing protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57528 ; - skos:exactMatch HGNC_symbol:KCTD16 ; + skos:exactMatch UMLS:C1428818, + HGNC:29244, + HGNC_symbol:KCTD16 ; biolink:category biolink:Gene . OMIM:613425 a owl:Class ; @@ -315596,13 +328572,14 @@ OMIM:613425 a owl:Class ; PMID:25616964 ; RO:0002525 CHR:9606chr2p23.2 ; RO:0003303 OMIM:613428 ; - oboInOwl:hasDbXref UMLS:C2681197 ; oboInOwl:hasExactSynonym "PCARE", "chromosome 2 open reading frame 71", "photoreceptor cilium actin regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388939 ; - skos:exactMatch HGNC_symbol:PCARE ; + skos:exactMatch UMLS:C2681197, + HGNC:34383, + HGNC_symbol:PCARE ; biolink:category biolink:Gene . OMIM:613426 a owl:Class ; @@ -315615,26 +328592,27 @@ OMIM:613426 a owl:Class ; PMID:19138847, PMID:21127202, PMID:31147515 ; - oboInOwl:hasDbXref UMLS:C1834481, - UMLS:C3150690 ; oboInOwl:hasExactSynonym "CMD1S", "cardiomyopathy, dilated, 1s", "left ventricular noncompaction 5" ; rdfs:subClassOf OMIMPS:115200, OMIMPS:604169 ; + skos:exactMatch UMLS:C1834481, + UMLS:C3150690 ; biolink:category biolink:Disease . OMIM:613427 a owl:Class ; rdfs:label "ANAPC16" ; IAO:0000142 PMID:20360068 ; - oboInOwl:hasDbXref UMLS:C1538404 ; oboInOwl:hasExactSynonym "ANAPC16", "anaphase-promoting complex, subunit 16", "chromosome 10 open reading frame 104", "metabolic syndrome-associated gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119504 ; - skos:exactMatch HGNC_symbol:ANAPC16 ; + skos:exactMatch UMLS:C1538404, + HGNC:26976, + HGNC_symbol:ANAPC16 ; biolink:category biolink:Gene . OMIM:613429 a owl:Class ; @@ -315643,13 +328621,14 @@ OMIM:613429 a owl:Class ; PMID:18443220, PMID:19369198, PMID:19427217 ; - oboInOwl:hasDbXref UMLS:C1824708 ; oboInOwl:hasExactSynonym "HAUS2", "centrosomal protein, 27-kd: cep27", "haus augmin-like complex, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55142 ; - skos:exactMatch HGNC_symbol:HAUS2 ; + skos:exactMatch UMLS:C1824708, + HGNC:25530, + HGNC_symbol:HAUS2 ; biolink:category biolink:Gene . OMIM:613430 a owl:Class ; @@ -315657,14 +328636,15 @@ OMIM:613430 a owl:Class ; IAO:0000142 PMID:18443220, PMID:19369198, PMID:19427217 ; - oboInOwl:hasDbXref UMLS:C1540234 ; oboInOwl:hasExactSynonym "HAUS3", "chromosome 4 open reading frame 15", "dim gamma-tubulin 3, drosophila, homolog of", "haus augmin-like complex, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79441 ; - skos:exactMatch HGNC_symbol:HAUS3 ; + skos:exactMatch UMLS:C1540234, + HGNC:28719, + HGNC_symbol:HAUS3 ; biolink:category biolink:Gene . OMIM:613431 a owl:Class ; @@ -315672,13 +328652,14 @@ OMIM:613431 a owl:Class ; IAO:0000142 PMID:18443220, PMID:19369198, PMID:19427217 ; - oboInOwl:hasDbXref UMLS:C1426747 ; oboInOwl:hasExactSynonym "HAUS4", "chromosome 14 open reading frame 94", "haus augmin-like complex, subunit 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54930 ; - skos:exactMatch HGNC_symbol:HAUS4 ; + skos:exactMatch UMLS:C1426747, + HGNC:20163, + HGNC_symbol:HAUS4 ; biolink:category biolink:Gene . OMIM:613432 a owl:Class ; @@ -315687,14 +328668,15 @@ OMIM:613432 a owl:Class ; PMID:18443220, PMID:19369198, PMID:19427217 ; - oboInOwl:hasDbXref UMLS:C1428793 ; oboInOwl:hasExactSynonym "HAUS5", "dim gamma-tubulin 5, drosophila, homolog of", "haus augmin-like complex, subunit 5", "kiaa0841" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23354 ; - skos:exactMatch HGNC_symbol:HAUS5 ; + skos:exactMatch UMLS:C1428793, + HGNC:29130, + HGNC_symbol:HAUS5 ; biolink:category biolink:Gene . OMIM:613433 a owl:Class ; @@ -315703,14 +328685,15 @@ OMIM:613433 a owl:Class ; PMID:19029337, PMID:19369198, PMID:19427217 ; - oboInOwl:hasDbXref UMLS:C1428538 ; oboInOwl:hasExactSynonym "HAUS6", "dim gamma-tubulin 6, drosophila, homolog of", "family with sequence similarity 29, member a", "haus augmin-like complex, subunit 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54801 ; - skos:exactMatch HGNC_symbol:HAUS6 ; + skos:exactMatch UMLS:C1428538, + HGNC:25948, + HGNC_symbol:HAUS6 ; biolink:category biolink:Gene . OMIM:613434 a owl:Class ; @@ -315720,14 +328703,15 @@ OMIM:613434 a owl:Class ; PMID:19369198, PMID:19427217, PMID:19776357 ; - oboInOwl:hasDbXref UMLS:C2681566 ; oboInOwl:hasExactSynonym "HAUS8", "dim gamma-tubulin 4, drosophila, homolog of", "haus augmin-like complex, subunit 8", "hec1-interacting and centrosome-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93323 ; - skos:exactMatch HGNC_symbol:HAUS8 ; + skos:exactMatch UMLS:C2681566, + HGNC:30532, + HGNC_symbol:HAUS8 ; biolink:category biolink:Gene . OMIM:613435 a owl:Class ; @@ -315736,10 +328720,10 @@ OMIM:613435 a owl:Class ; PMID:25943890, PMID:27493188, PMID:31838784 ; - oboInOwl:hasDbXref UMLS:C3150692 ; oboInOwl:hasExactSynonym "ALS12", "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C3150692 ; biolink:category biolink:Disease . OMIM:613437 a owl:Class ; @@ -315751,35 +328735,38 @@ OMIM:613437 a owl:Class ; PMID:32098969 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:619164 ; - oboInOwl:hasDbXref UMLS:C1428769 ; oboInOwl:hasExactSynonym "FCHO1", "fch domain only protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23149 ; - skos:exactMatch HGNC_symbol:FCHO1 ; + skos:exactMatch UMLS:C1428769, + HGNC:29002, + HGNC_symbol:FCHO1 ; biolink:category biolink:Gene . OMIM:613438 a owl:Class ; rdfs:label "FCHO2" ; IAO:0000142 PMID:15254787, PMID:20448150 ; - oboInOwl:hasDbXref UMLS:C1539508 ; oboInOwl:hasExactSynonym "FCHO2", "fch domain only protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115548 ; - skos:exactMatch HGNC_symbol:FCHO2 ; + skos:exactMatch UMLS:C1539508, + HGNC:25180, + HGNC_symbol:FCHO2 ; biolink:category biolink:Gene . OMIM:613439 a owl:Class ; rdfs:label "CNST" ; IAO:0000142 PMID:19864490 ; - oboInOwl:hasDbXref UMLS:C1823217 ; oboInOwl:hasExactSynonym "CNST", "consortin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163882 ; - skos:exactMatch HGNC_symbol:CNST ; + skos:exactMatch UMLS:C1823217, + HGNC:26486, + HGNC_symbol:CNST ; biolink:category biolink:Gene . OMIM:613441 a owl:Class ; @@ -315819,26 +328806,28 @@ OMIM:613441 a owl:Class ; PMID:8439564 ; RO:0002525 CHR:9606chr22q12.2 ; RO:0003303 OMIM:275350 ; - oboInOwl:hasDbXref UMLS:C1420653 ; oboInOwl:hasExactSynonym "TCN2", "tc 2", "transcobalamin 2", "vitamin b12-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6948 ; - skos:exactMatch HGNC_symbol:TCN2 ; + skos:exactMatch UMLS:C1420653, + HGNC:11653, + HGNC_symbol:TCN2 ; biolink:category biolink:Gene . OMIM:613442 a owl:Class ; rdfs:label "PTX4" ; IAO:0000142 PMID:20357257 ; - oboInOwl:hasDbXref UMLS:C2828585 ; oboInOwl:hasExactSynonym "PTX4", "pentraxin 4", "pentraxin 4, long" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390667 ; - skos:exactMatch HGNC_symbol:PTX4 ; + skos:exactMatch UMLS:C2828585, + HGNC:14171, + HGNC_symbol:PTX4 ; biolink:category biolink:Gene . OMIM:613444 a owl:Class ; @@ -315849,12 +328838,12 @@ OMIM:613444 a owl:Class ; PMID:20799338, PMID:20808231 ; RO:0002525 CHR:9606chr16p11.2 ; - oboInOwl:hasDbXref UMLS:C1866432, - UMLS:C3150701, - UMLS:C3150702 ; oboInOwl:hasExactSynonym "body mass index quantitative trait locus 16", "chromosome 16p11.2 deletion syndrome, 220-kb", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C1866432, + UMLS:C3150701, + UMLS:C3150702 ; biolink:category biolink:Disease . OMIM:613445 a owl:Class ; @@ -315872,13 +328861,14 @@ OMIM:613446 a owl:Class ; PMID:27208211 ; RO:0002525 CHR:9606chr5q23.2 ; RO:0003303 OMIM:616300 ; - oboInOwl:hasDbXref UMLS:C1824627 ; oboInOwl:hasExactSynonym "CEP120", "centrosomal protein, 120-kd", "coiled-coil domain-containing protein 100" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153241 ; - skos:exactMatch HGNC_symbol:CEP120 ; + skos:exactMatch UMLS:C1824627, + HGNC:26690, + HGNC_symbol:CEP120 ; biolink:category biolink:Gene . OMIM:613447 a owl:Class ; @@ -315886,51 +328876,55 @@ OMIM:613447 a owl:Class ; IAO:0000142 PMID:20360068, PMID:20736305, PMID:23810536 ; - oboInOwl:hasDbXref UMLS:C3146551 ; oboInOwl:hasExactSynonym "SPICE1", "coiled-coil domain-containing protein 52, formerly", "spindle and centriole protein", "spindle- and centriole-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152185 ; - skos:exactMatch HGNC_symbol:SPICE1 ; + skos:exactMatch UMLS:C3146551, + HGNC:25083, + HGNC_symbol:SPICE1 ; biolink:category biolink:Gene . OMIM:613448 a owl:Class ; rdfs:label "MZT1" ; IAO:0000142 PMID:20360068 ; - oboInOwl:hasDbXref UMLS:C2681284 ; oboInOwl:hasExactSynonym "MZT1", "chromosome 13 open reading frame 37", "mitotic spindle organizing protein 1", "mitotic spindle-organizing protein associated with a ring of gamma-tubulin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440145 ; - skos:exactMatch HGNC_symbol:MZT1 ; + skos:exactMatch UMLS:C2681284, + HGNC:33830, + HGNC_symbol:MZT1 ; biolink:category biolink:Gene . OMIM:613449 a owl:Class ; rdfs:label "FAM128A" ; IAO:0000142 PMID:20360068 ; - oboInOwl:hasDbXref UMLS:C1825273 ; oboInOwl:hasExactSynonym "FAM128A", "family with sequence similarity 128, member a", "mitotic spindle-organizing protein associated with a ring of gamma-tubulin 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653784 ; - skos:exactMatch HGNC_symbol:MZT2A ; + skos:exactMatch UMLS:C1825273, + HGNC:33187, + HGNC_symbol:MZT2A ; biolink:category biolink:Gene . OMIM:613450 a owl:Class ; rdfs:label "FAM128B" ; IAO:0000142 PMID:20360068 ; - oboInOwl:hasDbXref UMLS:C1825274 ; oboInOwl:hasExactSynonym "FAM128B", "family with sequence similarity 128, member B", "mitotic spindle-organizing protein associated with a ring of gamma-tubulin 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80097 ; - skos:exactMatch HGNC_symbol:MZT2B ; + skos:exactMatch UMLS:C1825274, + HGNC:25886, + HGNC_symbol:MZT2B ; biolink:category biolink:Gene . OMIM:613451 a owl:Class ; @@ -315939,23 +328933,24 @@ OMIM:613451 a owl:Class ; PMID:19692347, PMID:22140057, PMID:24668755 ; - oboInOwl:hasDbXref UMLS:C3150703, - ORPHA:228390 ; oboInOwl:hasExactSynonym "FND2", "frontonasal dysplasia 2" ; rdfs:subClassOf OMIMPS:136760 ; + skos:exactMatch UMLS:C3150703, + ORPHA:228390 ; biolink:category biolink:Disease . OMIM:613452 a owl:Class ; rdfs:label "CATSPERG" ; IAO:0000142 PMID:19516020, PMID:20551230 ; - oboInOwl:hasDbXref UMLS:C1428460 ; oboInOwl:hasExactSynonym "CATSPERG", "cation channel, sperm-associated, auxiliary subunit gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57828 ; - skos:exactMatch HGNC_symbol:CATSPERG ; + skos:exactMatch UMLS:C1428460, + HGNC:25243, + HGNC_symbol:CATSPERG ; biolink:category biolink:Gene . OMIM:613455 a owl:Class ; @@ -315967,7 +328962,6 @@ OMIM:613455 a owl:Class ; PMID:9039502 ; RO:0002525 CHR:9606chr1q41 ; RO:0003303 OMIM:619269 ; - oboInOwl:hasDbXref UMLS:C1825987 ; oboInOwl:hasExactSynonym "MIA3", "kiaa0268", "melanoma inhibitory activity family, member 3", @@ -315976,7 +328970,9 @@ OMIM:613455 a owl:Class ; "transport and golgi organization gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375056 ; - skos:exactMatch HGNC_symbol:MIA3 ; + skos:exactMatch UMLS:C1825987, + HGNC:24008, + HGNC_symbol:MIA3 ; biolink:category biolink:Gene . OMIM:613457 a owl:Class ; @@ -315990,8 +328986,8 @@ OMIM:613457 a owl:Class ; PMID:8010711, PMID:9037346 ; RO:0002525 CHR:9606chr14q11-q22 ; - oboInOwl:hasDbXref UMLS:C3150707 ; oboInOwl:hasExactSynonym "chromosome 14q11-q22 deletion syndrome" ; + skos:exactMatch UMLS:C3150707 ; biolink:category biolink:Disease . OMIM:613458 a owl:Class ; @@ -316002,8 +328998,8 @@ OMIM:613458 a owl:Class ; PMID:20587603, PMID:21792059 ; RO:0002525 CHR:9606chr16p13.3 ; - oboInOwl:hasDbXref UMLS:C3150708 ; oboInOwl:hasExactSynonym "chromosome 16p13.3 duplication syndrome" ; + skos:exactMatch UMLS:C3150708 ; biolink:category biolink:Disease . OMIM:613461 a owl:Class ; @@ -316011,30 +329007,30 @@ OMIM:613461 a owl:Class ; IAO:0000142 PMID:18042720, PMID:19907080, PMID:9207021 ; - oboInOwl:hasDbXref UMLS:C1537565 ; oboInOwl:hasExactSynonym "LEPROT", "leptin receptor gene-related protein", "leptin receptor overlapping transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54741 ; - skos:exactMatch HGNC_symbol:LEPROT ; + skos:exactMatch UMLS:C1537565, + HGNC:29477, + HGNC_symbol:LEPROT ; biolink:category biolink:Gene . OMIM:613464 a owl:Class ; rdfs:label "retinitis pigmentosa 51" ; IAO:0000142 PMID:20451172, PMID:26195043 ; - oboInOwl:hasDbXref UMLS:C3150715 ; oboInOwl:hasExactSynonym "RP51", "retinitis pigmentosa 51" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3150715 ; biolink:category biolink:Disease . OMIM:613465 a owl:Class ; rdfs:label "NME7" ; IAO:0000142 PMID:11768308, PMID:20360068 ; - oboInOwl:hasDbXref UMLS:C1426952 ; oboInOwl:hasExactSynonym "NME7", "nm23h7", "nme/nm23 family, member 7", @@ -316043,19 +329039,22 @@ OMIM:613465 a owl:Class ; "nucleoside diphosphate kinase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29922 ; - skos:exactMatch HGNC_symbol:NME7 ; + skos:exactMatch UMLS:C1426952, + HGNC:20461, + HGNC_symbol:NME7 ; biolink:category biolink:Gene . OMIM:613466 a owl:Class ; rdfs:label "PFDN2" ; IAO:0000142 PMID:20360068, PMID:9630229 ; - oboInOwl:hasDbXref UMLS:C1418484 ; oboInOwl:hasExactSynonym "PFDN2", "prefoldin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5202 ; - skos:exactMatch HGNC_symbol:PFDN2 ; + skos:exactMatch UMLS:C1418484, + HGNC:8867, + HGNC_symbol:PFDN2 ; biolink:category biolink:Gene . OMIM:613467 a owl:Class ; @@ -316065,14 +329064,15 @@ OMIM:613467 a owl:Class ; PMID:22898984, PMID:25480299, PMID:28792939 ; - oboInOwl:hasDbXref UMLS:C1428522 ; oboInOwl:hasExactSynonym "ZCCHC6", "kiaa1711", "terminal uridyltransferase 7", "zinc finger cchc domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79670 ; - skos:exactMatch HGNC_symbol:TUT7 ; + skos:exactMatch UMLS:C1428522, + HGNC:25817, + HGNC_symbol:TUT7 ; biolink:category biolink:Gene . OMIM:613468 a owl:Class ; @@ -316091,7 +329091,6 @@ OMIM:613468 a owl:Class ; PMID:9128814 ; RO:0002525 CHR:9606chr8p22 ; RO:0003303 OMIM:159950 ; - oboInOwl:hasDbXref UMLS:C1412573 ; oboInOwl:hasExactSynonym "ASAH1", "acdase", "acid cdase", @@ -316101,7 +329100,9 @@ OMIM:613468 a owl:Class ; "n-acylsphingosine deacylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:427 ; - skos:exactMatch HGNC_symbol:ASAH1 ; + skos:exactMatch UMLS:C1412573, + HGNC:735, + HGNC_symbol:ASAH1 ; biolink:category biolink:Gene . OMIM:613469 a owl:Class ; @@ -316118,13 +329119,14 @@ OMIM:613469 a owl:Class ; PMID:25510506 ; RO:0002525 CHR:9606chr10q24.2 ; RO:0003303 OMIM:236730 ; - oboInOwl:hasDbXref UMLS:C1425482 ; oboInOwl:hasExactSynonym "HPSE2", "heparanase 2", "hpa2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60495 ; - skos:exactMatch HGNC_symbol:HPSE2 ; + skos:exactMatch UMLS:C1425482, + HGNC:18374, + HGNC_symbol:HPSE2 ; biolink:category biolink:Gene . OMIM:613471 a owl:Class ; @@ -316132,20 +329134,21 @@ OMIM:613471 a owl:Class ; IAO:0000142 PMID:20522425, PMID:5448799, PMID:5553949 ; - oboInOwl:hasDbXref UMLS:C0748397 ; oboInOwl:hasExactSynonym "primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia", "reynolds syndrome" ; + skos:exactMatch UMLS:C0748397 ; biolink:category biolink:Disease . OMIM:613472 a owl:Class ; rdfs:label "ULK3" ; IAO:0000142 PMID:19878745 ; - oboInOwl:hasDbXref UMLS:C1540161 ; oboInOwl:hasExactSynonym "ULK3", "unc51-like kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25989 ; - skos:exactMatch HGNC_symbol:ULK3 ; + skos:exactMatch UMLS:C1540161, + HGNC:19703, + HGNC_symbol:ULK3 ; biolink:category biolink:Gene . OMIM:613473 a owl:Class ; @@ -316154,7 +329157,6 @@ OMIM:613473 a owl:Class ; PMID:12786944, PMID:32750315, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1422019 ; oboInOwl:hasExactSynonym "WDR7", "kiaa0541", "rabconnectin 3, beta", @@ -316162,14 +329164,15 @@ OMIM:613473 a owl:Class ; "wd repeat-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23335 ; - skos:exactMatch HGNC_symbol:WDR7 ; + skos:exactMatch UMLS:C1422019, + HGNC:13490, + HGNC_symbol:WDR7 ; biolink:category biolink:Gene . OMIM:613474 a owl:Class ; rdfs:label "ZFAND2B" ; IAO:0000142 PMID:18467495, PMID:19414486 ; - oboInOwl:hasDbXref UMLS:C1823942 ; oboInOwl:hasExactSynonym "ZFAND2B", "airap-like protein", "an1-type zinc finger domain-containing protein 2b", @@ -316177,50 +329180,54 @@ OMIM:613474 a owl:Class ; "zinc finger an1 domain-containing protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130617 ; - skos:exactMatch HGNC_symbol:ZFAND2B ; + skos:exactMatch UMLS:C1823942, + HGNC:25206, + HGNC_symbol:ZFAND2B ; biolink:category biolink:Gene . OMIM:613475 a owl:Class ; rdfs:label "RRP36" ; IAO:0000142 PMID:20038530 ; - oboInOwl:hasDbXref UMLS:C1427520 ; oboInOwl:hasExactSynonym "RRP36", "chromosome 6 open reading frame 153", "ribosomal rna-processing 36", "ribosomal rna-processing factor, 36-kd, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:88745 ; - skos:exactMatch HGNC_symbol:RRP36 ; + skos:exactMatch UMLS:C1427520, + HGNC:21374, + HGNC_symbol:RRP36 ; biolink:category biolink:Gene . OMIM:613476 a owl:Class ; rdfs:label "MFSD6" ; IAO:0000142 PMID:20123006 ; - oboInOwl:hasDbXref UMLS:C2681661 ; oboInOwl:hasExactSynonym "MFSD6", "macrophage mhc receptor 2", "major facilitator superfamily domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54842 ; - skos:exactMatch HGNC_symbol:MFSD6 ; + skos:exactMatch UMLS:C2681661, + HGNC:24711, + HGNC_symbol:MFSD6 ; biolink:category biolink:Gene . OMIM:613478 a owl:Class ; rdfs:label "CCDC106" ; IAO:0000142 PMID:20159018 ; - oboInOwl:hasDbXref UMLS:C1824634 ; oboInOwl:hasExactSynonym "CCDC106", "coiled-coil domain-containing protein 106" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29903 ; - skos:exactMatch HGNC_symbol:CCDC106 ; + skos:exactMatch UMLS:C1824634, + HGNC:30181, + HGNC_symbol:CCDC106 ; biolink:category biolink:Gene . OMIM:613479 a owl:Class ; rdfs:label "CEP131" ; IAO:0000142 PMID:10470851, PMID:8529672 ; - oboInOwl:hasDbXref UMLS:C1538309 ; oboInOwl:hasExactSynonym "5-azacytidine-induced gene 1, mouse, homolog of", "CEP131", "az1, mouse, homolog of", @@ -316228,7 +329235,9 @@ OMIM:613479 a owl:Class ; "kiaa1118" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22994 ; - skos:exactMatch HGNC_symbol:CEP131 ; + skos:exactMatch UMLS:C1538309, + HGNC:29511, + HGNC_symbol:CEP131 ; biolink:category biolink:Gene . OMIM:613481 a owl:Class ; @@ -316238,12 +329247,13 @@ OMIM:613481 a owl:Class ; PMID:19165854 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:619803 ; - oboInOwl:hasDbXref UMLS:C1824586 ; oboInOwl:hasExactSynonym "coiled-coil domain-containing protein 62: ccdc62", "estrogen receptor-associated protein, 75-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84660 ; - skos:exactMatch HGNC_symbol:CCDC62 ; + skos:exactMatch UMLS:C1824586, + HGNC:30723, + HGNC_symbol:CCDC62 ; biolink:category biolink:Gene . OMIM:613482 a owl:Class ; @@ -316251,12 +329261,13 @@ OMIM:613482 a owl:Class ; IAO:0000142 PMID:14623875, PMID:14684736, PMID:18216018 ; - oboInOwl:hasDbXref UMLS:C1427009 ; oboInOwl:hasExactSynonym "CCNL2", "cyclin l2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81669 ; - skos:exactMatch HGNC_symbol:CCNL2 ; + skos:exactMatch UMLS:C1427009, + HGNC:20570, + HGNC_symbol:CCNL2 ; biolink:category biolink:Gene . OMIM:613483 a owl:Class ; @@ -316266,14 +329277,15 @@ OMIM:613483 a owl:Class ; PMID:18957218, PMID:20346763, PMID:22284184 ; - oboInOwl:hasDbXref UMLS:C1420841 ; oboInOwl:hasExactSynonym "BHLHE22", "basic helix-loop-helix domain-containing protein, class b, 5", "basic helix-loop-helix family, member e22", "beta3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27319 ; - skos:exactMatch HGNC_symbol:BHLHE22 ; + skos:exactMatch UMLS:C1420841, + HGNC:11963, + HGNC_symbol:BHLHE22 ; biolink:category biolink:Gene . OMIM:613484 a owl:Class ; @@ -316289,7 +329301,6 @@ OMIM:613484 a owl:Class ; PMID:33596411 ; RO:0002525 CHR:9606chr1p36.21-p36.13 ; RO:0003303 OMIM:619312 ; - oboInOwl:hasDbXref UMLS:C1539835 ; oboInOwl:hasExactSynonym "SPEN", "kiaa0929", "msx2-interacting nuclear target", @@ -316298,7 +329309,9 @@ OMIM:613484 a owl:Class ; "spen, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23013 ; - skos:exactMatch HGNC_symbol:SPEN ; + skos:exactMatch UMLS:C1539835, + HGNC:17575, + HGNC_symbol:SPEN ; biolink:category biolink:Gene . OMIM:613486 a owl:Class ; @@ -316307,14 +329320,15 @@ OMIM:613486 a owl:Class ; PMID:20466882, PMID:20558698, PMID:22012398 ; - oboInOwl:hasDbXref UMLS:C1826000 ; oboInOwl:hasExactSynonym "MIR33B", "micro RNA 33b", "mirn33b", "mirna33b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693120 ; - skos:exactMatch HGNC_symbol:MIR33B ; + skos:exactMatch UMLS:C1826000, + HGNC:32791, + HGNC_symbol:MIR33B ; biolink:category biolink:Gene . OMIM:613487 a owl:Class ; @@ -316328,7 +329342,6 @@ OMIM:613487 a owl:Class ; PMID:22895706, PMID:25070796, PMID:25070797 ; - oboInOwl:hasDbXref UMLS:C1537848 ; oboInOwl:hasExactSynonym "MIR212", "micro RNA 212", "micro RNA 212*", @@ -316338,7 +329351,9 @@ OMIM:613487 a owl:Class ; "mirna212" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406994 ; - skos:exactMatch HGNC_symbol:MIR212 ; + skos:exactMatch UMLS:C1537848, + HGNC:31589, + HGNC_symbol:MIR212 ; biolink:category biolink:Gene . OMIM:613488 a owl:Class ; @@ -316362,8 +329377,8 @@ OMIM:613488 a owl:Class ; PMID:8453640, PMID:8913727 ; RO:0002525 CHR:9606chr12q13.1 ; - oboInOwl:hasDbXref UMLS:C0206634 ; oboInOwl:hasExactSynonym "myxoid liposarcoma" ; + skos:exactMatch UMLS:C0206634 ; biolink:category biolink:Disease . OMIM:613489 a owl:Class ; @@ -316371,11 +329386,11 @@ OMIM:613489 a owl:Class ; IAO:0000142 PMID:16356446, PMID:19494034, PMID:21185756 ; - oboInOwl:hasDbXref UMLS:C3150736 ; oboInOwl:hasExactSynonym "CDG2J", "cdg iij", "congenital disorder of glycosylation, iia iij" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C3150736 ; biolink:category biolink:Disease . OMIM:613491 a owl:Class ; @@ -316383,14 +329398,15 @@ OMIM:613491 a owl:Class ; IAO:0000142 PMID:12783875, PMID:16477081, PMID:17713573 ; - oboInOwl:hasDbXref UMLS:C2681403 ; oboInOwl:hasExactSynonym "ACER1", "alkaline cdase 1", "alkaline ceramidase 1", "alkcdase1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125981 ; - skos:exactMatch HGNC_symbol:ACER1 ; + skos:exactMatch UMLS:C2681403, + HGNC:18356, + HGNC_symbol:ACER1 ; biolink:category biolink:Gene . OMIM:613492 a owl:Class ; @@ -316399,14 +329415,15 @@ OMIM:613492 a owl:Class ; PMID:16940153, PMID:18945876, PMID:20089856 ; - oboInOwl:hasDbXref UMLS:C1540204 ; oboInOwl:hasExactSynonym "ACER2", "alkaline cdase 2", "alkaline ceramidase 2", "alkcdase2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340485 ; - skos:exactMatch HGNC_symbol:ACER2 ; + skos:exactMatch UMLS:C1540204, + HGNC:23675, + HGNC_symbol:ACER2 ; biolink:category biolink:Gene . OMIM:613497 a owl:Class ; @@ -316427,14 +329444,15 @@ OMIM:613497 a owl:Class ; PMID:8956047 ; RO:0002525 CHR:9606chr10q23.31 ; RO:0003303 OMIM:278000 ; - oboInOwl:hasDbXref UMLS:C1416865 ; oboInOwl:hasExactSynonym "LIPA", "cholesterol ester hydrolase", "lipase a, lysosomal acid", "lysosomal acid lipase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3988 ; - skos:exactMatch HGNC_symbol:LIPA ; + skos:exactMatch UMLS:C1416865, + HGNC:6617, + HGNC_symbol:LIPA ; biolink:category biolink:Gene . OMIM:613499 a owl:Class ; @@ -316450,7 +329468,6 @@ OMIM:613499 a owl:Class ; PMID:18929679, PMID:19965387, PMID:20929775 ; - oboInOwl:hasDbXref UMLS:C1425743 ; oboInOwl:hasExactSynonym "HIST1H2AA", "h2a histone family, member r", "h2a/r", @@ -316459,7 +329476,9 @@ OMIM:613499 a owl:Class ; "histone gene cluster 1, h2aa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221613 ; - skos:exactMatch HGNC_symbol:H2AC1 ; + skos:exactMatch UMLS:C1425743, + HGNC:18729, + HGNC_symbol:H2AC1 ; biolink:category biolink:Gene . OMIM:613503 a owl:Class ; @@ -316467,26 +329486,28 @@ OMIM:613503 a owl:Class ; IAO:0000142 PMID:22407913, PMID:2564844, PMID:9036956 ; - oboInOwl:hasDbXref UMLS:C1415571 ; oboInOwl:hasExactSynonym "HLA-DQA2", "dx-alpha", "major histocompatibility complex, class ii, dq alpha-2", "major histocompatibility complex, class ii, dx alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3118 ; - skos:exactMatch HGNC_symbol:HLA-DQA2 ; + skos:exactMatch UMLS:C1415571, + HGNC:4943, + HGNC_symbol:HLA-DQA2 ; biolink:category biolink:Gene . OMIM:613504 a owl:Class ; rdfs:label "ZFYVE21" ; IAO:0000142 PMID:20439989 ; - oboInOwl:hasDbXref UMLS:C1427117 ; oboInOwl:hasExactSynonym "ZFYVE21", "zinc finger fyve domain-containing protein 21", "zinc finger protein 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79038 ; - skos:exactMatch HGNC_symbol:ZFYVE21 ; + skos:exactMatch UMLS:C1427117, + HGNC:20760, + HGNC_symbol:ZFYVE21 ; biolink:category biolink:Gene . OMIM:613505 a owl:Class ; @@ -316495,24 +329516,25 @@ OMIM:613505 a owl:Class ; PMID:19250639, PMID:20613726, PMID:22547800 ; - oboInOwl:hasDbXref UMLS:C1537601 ; oboInOwl:hasExactSynonym "LRRC26", "cytokeratin-associated protein 1n cancer", "leucine-rich repeat-containing protein 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389816 ; - skos:exactMatch HGNC_symbol:LRRC26 ; + skos:exactMatch UMLS:C1537601, + HGNC:31409, + HGNC_symbol:LRRC26 ; biolink:category biolink:Gene . OMIM:613507 a owl:Class ; rdfs:label "glycogen storage disease 15" ; IAO:0000142 PMID:20357282 ; - oboInOwl:hasDbXref UMLS:C3150754 ; oboInOwl:hasExactSynonym "GSD15", "glycogen storage disease 15", "glycogenin deficiency", "gsd 15", "gyg1 deficiency" ; + skos:exactMatch UMLS:C3150754 ; biolink:category biolink:Disease . OMIM:613509 a owl:Class ; @@ -316521,9 +329543,9 @@ OMIM:613509 a owl:Class ; PMID:16909388, PMID:20522426 ; RO:0002525 CHR:9606chr4q21 ; - oboInOwl:hasDbXref UMLS:C3150756, - ORPHA:238750 ; oboInOwl:hasExactSynonym "chromosome 4q21 deletion syndrome" ; + skos:exactMatch UMLS:C3150756, + ORPHA:238750 ; biolink:category biolink:Disease . OMIM:613510 a owl:Class ; @@ -316531,7 +329553,6 @@ OMIM:613510 a owl:Class ; IAO:0000142 PMID:19654316, PMID:20544018, PMID:25561175 ; - oboInOwl:hasDbXref UMLS:C1824325 ; oboInOwl:hasExactSynonym "LAMTOR1", "chromosome 11 open reading frame 59", "late endosomal/lysosomal adaptor, mapk and mtor activator 1", @@ -316540,46 +329561,51 @@ OMIM:613510 a owl:Class ; "protein associated with detergent-resistant membranes and endosomes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55004 ; - skos:exactMatch HGNC_symbol:LAMTOR1 ; + skos:exactMatch UMLS:C1824325, + HGNC:26068, + HGNC_symbol:LAMTOR1 ; biolink:category biolink:Gene . OMIM:613511 a owl:Class ; rdfs:label "SPINK9" ; IAO:0000142 PMID:19190773, PMID:19194479 ; - oboInOwl:hasDbXref UMLS:C1823112 ; oboInOwl:hasExactSynonym "SPINK9", "lymphoepithelial kazal-type-related inhibitor 2", "serine protease inhibitor, kazal-type, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643394 ; - skos:exactMatch HGNC_symbol:SPINK9 ; + skos:exactMatch UMLS:C1823112, + HGNC:32951, + HGNC_symbol:SPINK9 ; biolink:category biolink:Gene . OMIM:613512 a owl:Class ; rdfs:label "ZBED6" ; IAO:0000142 PMID:20016685, PMID:23533661 ; - oboInOwl:hasDbXref UMLS:C3147017 ; oboInOwl:hasExactSynonym "ZBED6", "bed-type zinc finger domain-containing protein 6", "zinc finger bed domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100381270 ; - skos:exactMatch HGNC_symbol:ZBED6 ; + skos:exactMatch UMLS:C3147017, + HGNC:33273, + HGNC_symbol:ZBED6 ; biolink:category biolink:Gene . OMIM:613513 a owl:Class ; rdfs:label "ZC3H11A" ; IAO:0000142 PMID:20016685, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1823922 ; oboInOwl:hasExactSynonym "ZC3H11A", "kiaa0663", "zinc finger ccch domain-containing protein 11a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9877 ; - skos:exactMatch HGNC_symbol:ZC3H11A ; + skos:exactMatch UMLS:C1823922, + HGNC:29093, + HGNC_symbol:ZC3H11A ; biolink:category biolink:Gene . OMIM:613514 a owl:Class ; @@ -316587,13 +329613,14 @@ OMIM:613514 a owl:Class ; IAO:0000142 PMID:15142998, PMID:18667750, PMID:7841460 ; - oboInOwl:hasDbXref UMLS:C1423719 ; oboInOwl:hasExactSynonym "ZP4", "zona pellucida B protein", "zona pellucida glycoprotein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57829 ; - skos:exactMatch HGNC_symbol:ZP4 ; + skos:exactMatch UMLS:C1423719, + HGNC:15770, + HGNC_symbol:ZP4 ; biolink:category biolink:Gene . OMIM:613515 a owl:Class ; @@ -316603,7 +329630,6 @@ OMIM:613515 a owl:Class ; PMID:19270696, PMID:23455425, PMID:25686604 ; - oboInOwl:hasDbXref UMLS:C3146639 ; oboInOwl:hasExactSynonym "ATG14", "autophagy 14, s. cerevisiae, homolog of", "autophagy-related 14", @@ -316613,7 +329639,9 @@ OMIM:613515 a owl:Class ; "yeast atg14-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22863 ; - skos:exactMatch HGNC_symbol:ATG14 ; + skos:exactMatch UMLS:C3146639, + HGNC:19962, + HGNC_symbol:ATG14 ; biolink:category biolink:Gene . OMIM:613516 a owl:Class ; @@ -316627,8 +329655,6 @@ OMIM:613516 a owl:Class ; PMID:9039502 ; RO:0002525 CHR:9606chr3q29 ; RO:0003303 OMIM:615705 ; - oboInOwl:hasDbXref UMLS:C1537447, - UMLS:C3810326 ; oboInOwl:hasExactSynonym "RUBCN", "kiaa0226 gene", "rubicon", @@ -316636,19 +329662,23 @@ OMIM:613516 a owl:Class ; "rundataxin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9711 ; - skos:exactMatch HGNC_symbol:RUBCN ; + skos:exactMatch UMLS:C1537447, + UMLS:C3810326, + HGNC:28991, + HGNC_symbol:RUBCN ; biolink:category biolink:Gene . OMIM:613520 a owl:Class ; rdfs:label "FGD6" ; IAO:0000142 PMID:20170901 ; - oboInOwl:hasDbXref UMLS:C1427731 ; oboInOwl:hasExactSynonym "FGD6", "fyve, rhogef, and ph domain-containing protein 6", "zinc finger fyve domain-containing protein 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55785 ; - skos:exactMatch HGNC_symbol:FGD6 ; + skos:exactMatch UMLS:C1427731, + HGNC:21740, + HGNC_symbol:FGD6 ; biolink:category biolink:Gene . OMIM:613521 a owl:Class ; @@ -316673,12 +329703,13 @@ OMIM:613521 a owl:Class ; PMID:9792863 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:176100 ; - oboInOwl:hasDbXref UMLS:C1421374 ; oboInOwl:hasExactSynonym "UROD", "uroporphyrinogen decarboxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7389 ; - skos:exactMatch HGNC_symbol:UROD ; + skos:exactMatch UMLS:C1421374, + HGNC:12591, + HGNC_symbol:UROD ; biolink:category biolink:Gene . OMIM:613523 a owl:Class ; @@ -316696,9 +329727,9 @@ OMIM:613523 a owl:Class ; PMID:9694738, PMID:9716603 ; RO:0002525 CHR:9606chr8p11 ; - oboInOwl:hasDbXref UMLS:C3150773 ; oboInOwl:hasExactSynonym "chromosome 8p11 myeloproliferative syndrome", "stem cell leukemia/lymphoma" ; + skos:exactMatch UMLS:C3150773 ; biolink:category biolink:Disease . OMIM:613524 a owl:Class ; @@ -316711,7 +329742,6 @@ OMIM:613524 a owl:Class ; PMID:9610721 ; RO:0002525 CHR:9606chr1q43-q44 ; RO:0003303 OMIM:613615 ; - oboInOwl:hasDbXref UMLS:C1419903 ; oboInOwl:hasExactSynonym "SDCCAG8", "bbs16 gene", "centrosomal colon cancer autoantigen protein", @@ -316722,13 +329752,14 @@ OMIM:613524 a owl:Class ; "slsn7 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10806 ; - skos:exactMatch HGNC_symbol:SDCCAG8 ; + skos:exactMatch UMLS:C1419903, + HGNC:10671, + HGNC_symbol:SDCCAG8 ; biolink:category biolink:Gene . OMIM:613525 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12930300 ; - oboInOwl:hasDbXref UMLS:C1424818 ; oboInOwl:hasExactSynonym "chromosome 6 open reading frame 16", "psoriasis susceptibility 1 candidate gene 1", "psors1 candidate gene 1", @@ -316736,13 +329767,14 @@ OMIM:613525 a owl:Class ; "seek1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170679 ; - skos:exactMatch HGNC_symbol:PSORS1C1 ; + skos:exactMatch UMLS:C1424818, + HGNC:17202, + HGNC_symbol:PSORS1C1 ; biolink:category biolink:Gene . OMIM:613526 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12930300 ; - oboInOwl:hasDbXref UMLS:C1424815 ; oboInOwl:hasExactSynonym "chromosome 6 open reading frame 17", "psoriasis susceptibility 1 candidate gene 2", "psors1 candidate gene 2", @@ -316750,19 +329782,22 @@ OMIM:613526 a owl:Class ; "spr1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170680 ; - skos:exactMatch HGNC_symbol:PSORS1C2 ; + skos:exactMatch UMLS:C1424815, + HGNC:17199, + HGNC_symbol:PSORS1C2 ; biolink:category biolink:Gene . OMIM:613527 a owl:Class ; rdfs:label "DNAJC27" ; IAO:0000142 PMID:14980719 ; - oboInOwl:hasDbXref UMLS:C2239871 ; oboInOwl:hasExactSynonym "DNAJC27", "dnaj/hsp40 homolog, subfamily c, member 27", "rab and dnaj domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51277 ; - skos:exactMatch HGNC_symbol:DNAJC27 ; + skos:exactMatch UMLS:C2239871, + HGNC:30290, + HGNC_symbol:DNAJC27 ; biolink:category biolink:Gene . OMIM:613528 a owl:Class ; @@ -316771,12 +329806,13 @@ OMIM:613528 a owl:Class ; PMID:11751925, PMID:12966166, PMID:17521570 ; - oboInOwl:hasDbXref UMLS:C1426130 ; oboInOwl:hasExactSynonym "SYT9", "synaptotagmin 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143425 ; - skos:exactMatch HGNC_symbol:SYT9 ; + skos:exactMatch UMLS:C1426130, + HGNC:19265, + HGNC_symbol:SYT9 ; biolink:category biolink:Gene . OMIM:613529 a owl:Class ; @@ -316793,13 +329829,14 @@ OMIM:613529 a owl:Class ; PMID:25996639 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:613823 ; - oboInOwl:hasDbXref UMLS:C1824719 ; oboInOwl:hasExactSynonym "CEP152", "centrosomal protein, 152-kd", "kiaa0912" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22995 ; - skos:exactMatch HGNC_symbol:CEP152 ; + skos:exactMatch UMLS:C1824719, + HGNC:29298, + HGNC_symbol:CEP152 ; biolink:category biolink:Gene . OMIM:613531 a owl:Class ; @@ -316808,12 +329845,13 @@ OMIM:613531 a owl:Class ; PMID:20577206, PMID:9467947, PMID:9620558 ; - oboInOwl:hasDbXref UMLS:C1419057 ; oboInOwl:hasExactSynonym "PTENP1", "phosphatase and tensin homolog pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11191 ; - skos:exactMatch HGNC_symbol:PTENP1 ; + skos:exactMatch UMLS:C1419057, + HGNC:9589, + HGNC_symbol:PTENP1 ; biolink:category biolink:Gene . OMIM:613532 a owl:Class ; @@ -316822,12 +329860,13 @@ OMIM:613532 a owl:Class ; PMID:18772196, PMID:22921120, PMID:9030196 ; - oboInOwl:hasDbXref UMLS:C1428953 ; oboInOwl:hasExactSynonym "RAB8B", "ras-associated protein rab8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51762 ; - skos:exactMatch HGNC_symbol:RAB8B ; + skos:exactMatch UMLS:C1428953, + HGNC:30273, + HGNC_symbol:RAB8B ; biolink:category biolink:Gene . OMIM:613533 a owl:Class ; @@ -316835,8 +329874,8 @@ OMIM:613533 a owl:Class ; IAO:0000142 PMID:17576104, PMID:19502243 ; RO:0002525 CHR:9606chr17q21.31 ; - oboInOwl:hasDbXref UMLS:C3150787 ; oboInOwl:hasExactSynonym "chromosome 17q21.31 duplication syndrome" ; + skos:exactMatch UMLS:C3150787 ; biolink:category biolink:Disease . OMIM:613534 a owl:Class ; @@ -316859,14 +329898,15 @@ OMIM:613534 a owl:Class ; PMID:8546134 ; RO:0002525 CHR:9606chr15q13.3 ; RO:0003303 OMIM:614817 ; - oboInOwl:hasDbXref UMLS:C3147283 ; oboInOwl:hasExactSynonym "FAN1", "fancd2/fanci-associated nuclease 1", "kiaa1018", "myotubularin-related protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22909 ; - skos:exactMatch HGNC_symbol:FAN1 ; + skos:exactMatch UMLS:C3147283, + HGNC:29170, + HGNC_symbol:FAN1 ; biolink:category biolink:Gene . OMIM:613535 a owl:Class ; @@ -316876,25 +329916,27 @@ OMIM:613535 a owl:Class ; PMID:20697954, PMID:23831424, PMID:26814968 ; - oboInOwl:hasDbXref UMLS:C1537448 ; oboInOwl:hasExactSynonym "KIAA0319L", "adeno-associated virus receptor", "kiaa0319-like", "kiaa1837" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79932 ; - skos:exactMatch HGNC_symbol:KIAA0319L ; + skos:exactMatch UMLS:C1537448, + HGNC:30071, + HGNC_symbol:KIAA0319L ; biolink:category biolink:Gene . OMIM:613536 a owl:Class ; rdfs:label "LEKR1" ; IAO:0000142 PMID:19010793 ; - oboInOwl:hasDbXref UMLS:C2239647 ; oboInOwl:hasExactSynonym "LEKR1", "leucine-, glutamate-, and lysine-rich protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389170 ; - skos:exactMatch HGNC_symbol:LEKR1 ; + skos:exactMatch UMLS:C2239647, + HGNC:33765, + HGNC_symbol:LEKR1 ; biolink:category biolink:Gene . OMIM:613537 a owl:Class ; @@ -316902,26 +329944,28 @@ OMIM:613537 a owl:Class ; IAO:0000142 PMID:20434986, PMID:20639463, PMID:22711889 ; - oboInOwl:hasDbXref UMLS:C1826434 ; oboInOwl:hasExactSynonym "NLRC5", "nlr family, card domain-containing 5", "nlr family, card-containing 5", "nlr family, caspase recruitment domain-containing 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84166 ; - skos:exactMatch HGNC_symbol:NLRC5 ; + skos:exactMatch UMLS:C1826434, + HGNC:29933, + HGNC_symbol:NLRC5 ; biolink:category biolink:Gene . OMIM:613538 a owl:Class ; rdfs:label "FEM1A" ; IAO:0000142 PMID:9828124 ; - oboInOwl:hasDbXref UMLS:C1424647 ; oboInOwl:hasExactSynonym "FEM1A", "fem1 homolog a", "fem1, c. elegans, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55527 ; - skos:exactMatch HGNC_symbol:FEM1A ; + skos:exactMatch UMLS:C1424647, + HGNC:16934, + HGNC_symbol:FEM1A ; biolink:category biolink:Gene . OMIM:613539 a owl:Class ; @@ -316930,7 +329974,6 @@ OMIM:613539 a owl:Class ; PMID:19330022, PMID:9455477, PMID:9828124 ; - oboInOwl:hasDbXref UMLS:C1414582 ; oboInOwl:hasExactSynonym "FEM1B", "f1a-alpha", "fem1 homolog B", @@ -316939,20 +329982,23 @@ OMIM:613539 a owl:Class ; "kiaa0396" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10116 ; - skos:exactMatch HGNC_symbol:FEM1B ; + skos:exactMatch UMLS:C1414582, + HGNC:3649, + HGNC_symbol:FEM1B ; biolink:category biolink:Gene . OMIM:613540 a owl:Class ; rdfs:label "SPTSSA" ; IAO:0000142 PMID:19416851 ; - oboInOwl:hasDbXref UMLS:C1426895 ; oboInOwl:hasExactSynonym "SPTSSA", "chromosome 14 open reading frame 147", "serine palmitoyltransferase, small subunit, a", "small subunit of serine palmitoyltransferase a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171546 ; - skos:exactMatch HGNC_symbol:SPTSSA ; + skos:exactMatch UMLS:C1426895, + HGNC:20361, + HGNC_symbol:SPTSSA ; biolink:category biolink:Gene . OMIM:613541 a owl:Class ; @@ -316967,29 +330013,31 @@ OMIM:613541 a owl:Class ; PMID:3479531 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:615035 ; - oboInOwl:hasDbXref UMLS:C2240303, - UMLS:C3150801, - UMLS:C3539506 ; oboInOwl:hasExactSynonym "MTRFR", "chromosome 12 open reading frame 65", "mitochondrial translation release factor 1n rescue" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91574 ; - skos:exactMatch HGNC_symbol:MTRFR ; + skos:exactMatch UMLS:C2240303, + UMLS:C3150801, + UMLS:C3539506, + HGNC:26784, + HGNC_symbol:MTRFR ; biolink:category biolink:Gene . OMIM:613542 a owl:Class ; rdfs:label "MTRF1L" ; IAO:0000142 PMID:17803939, PMID:18429816 ; - oboInOwl:hasDbXref UMLS:C1427273 ; oboInOwl:hasExactSynonym "MTRF1L", "human mitochondrial release factor 1-like", "mitochondrial translational release factor 1-like", "mtrf1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54516 ; - skos:exactMatch HGNC_symbol:MTRF1L ; + skos:exactMatch UMLS:C1427273, + HGNC:21051, + HGNC_symbol:MTRF1L ; biolink:category biolink:Gene . OMIM:613543 a owl:Class ; @@ -317000,7 +330048,6 @@ OMIM:613543 a owl:Class ; PMID:7717419, PMID:7735504, PMID:9856555 ; - oboInOwl:hasDbXref UMLS:C1425976 ; oboInOwl:hasExactSynonym "SLCO5A1", "oatp5a1", "organic anion transporter polypeptide j", @@ -317009,7 +330056,9 @@ OMIM:613543 a owl:Class ; "solute carrier organic anion transporter family, member 5a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81796 ; - skos:exactMatch HGNC_symbol:SLCO5A1 ; + skos:exactMatch UMLS:C1425976, + HGNC:19046, + HGNC_symbol:SLCO5A1 ; biolink:category biolink:Gene . OMIM:613544 a owl:Class ; @@ -317021,10 +330070,10 @@ OMIM:613544 a owl:Class ; PMID:8723062, PMID:9268108 ; RO:0002525 CHR:9606chr6q11-q14 ; - oboInOwl:hasDbXref UMLS:C3150790, - UMLS:C3150791 ; oboInOwl:hasExactSynonym "chromosome 6q11-q14 deletion syndrome", "chromosome 6q13-q14 deletion syndrome" ; + skos:exactMatch UMLS:C3150790, + UMLS:C3150791 ; biolink:category biolink:Disease . OMIM:613546 a owl:Class ; @@ -317047,32 +330096,33 @@ OMIM:613546 a owl:Class ; PMID:8772541, PMID:9618522, PMID:9718379 ; - oboInOwl:hasDbXref UMLS:C1960539 ; oboInOwl:hasExactSynonym "aromatase deficiency", "pseudohermaphroditism, female, due to placental aromatase deficiency" ; + skos:exactMatch UMLS:C1960539 ; biolink:category biolink:Disease . OMIM:613550 a owl:Class ; rdfs:label "nephronophthisis 11" ; IAO:0000142 PMID:19508969, PMID:4688793 ; - oboInOwl:hasDbXref UMLS:C3150796, - ORPHA:84081 ; oboInOwl:hasExactSynonym "NPHP11", "nephronophthisis 11" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C3150796, + ORPHA:84081 ; biolink:category biolink:Disease . OMIM:613552 a owl:Class ; rdfs:label "GSAP" ; IAO:0000142 PMID:20811458 ; - oboInOwl:hasDbXref UMLS:C2678557 ; oboInOwl:hasExactSynonym "GSAP", "gamma-secretase-activating protein", "pigeon, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54103 ; - skos:exactMatch HGNC_symbol:GSAP ; + skos:exactMatch UMLS:C2678557, + HGNC:28042, + HGNC_symbol:GSAP ; biolink:category biolink:Gene . OMIM:613553 a owl:Class ; @@ -317081,13 +330131,14 @@ OMIM:613553 a owl:Class ; PMID:20179356 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:613159 ; - oboInOwl:hasDbXref UMLS:C1823877 ; oboInOwl:hasExactSynonym "XPNPEP3", "aminopeptidase p3", "x-prolyl aminopeptidase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63929 ; - skos:exactMatch HGNC_symbol:XPNPEP3 ; + skos:exactMatch UMLS:C1823877, + HGNC:28052, + HGNC_symbol:XPNPEP3 ; biolink:category biolink:Gene . OMIM:613555 a owl:Class ; @@ -317106,29 +330157,31 @@ OMIM:613555 a owl:Class ; PMID:9455477 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:618798 ; - oboInOwl:hasDbXref UMLS:C2680470, - UMLS:C5394586, - UMLS:C5394587 ; oboInOwl:hasExactSynonym "TET3", "kiaa0401", "tet methylcytosine dioxygenase 3", "tet oncogene family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200424 ; - skos:exactMatch HGNC_symbol:TET3 ; + skos:exactMatch UMLS:C2680470, + UMLS:C5394586, + UMLS:C5394587, + HGNC:28313, + HGNC_symbol:TET3 ; biolink:category biolink:Gene . OMIM:613556 a owl:Class ; rdfs:label "MIR659" ; IAO:0000142 PMID:18723524 ; - oboInOwl:hasDbXref UMLS:C1826238 ; oboInOwl:hasExactSynonym "MIR659", "micro RNA 659", "mirn659", "mirna659" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:724029 ; - skos:exactMatch HGNC_symbol:MIR659 ; + skos:exactMatch UMLS:C1826238, + HGNC:32915, + HGNC_symbol:MIR659 ; biolink:category biolink:Gene . OMIM:613557 a owl:Class ; @@ -317139,25 +330192,24 @@ OMIM:613558 a owl:Class ; rdfs:label "deafness, autosomal dominant 51" ; IAO:0000142 PMID:20602916 ; RO:0002525 CHR:9606chr9q21.11 ; - oboInOwl:hasDbXref UMLS:C3160736 ; oboInOwl:hasExactSynonym "DFNA51", "chromosome 9q21.11 duplication syndrome", "deafness, autosomal dominant 51" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C3160736 ; biolink:category biolink:Disease . OMIM:613559 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 7" ; IAO:0000142 PMID:20598281 ; - oboInOwl:hasDbXref UMLS:C3150801 ; oboInOwl:hasExactSynonym "COXPD7", "combined oxidative phosphorylation deficiency 7" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3150801 ; biolink:category biolink:Disease . OMIM:613560 a owl:Class ; rdfs:label "NTMT1" ; - oboInOwl:hasDbXref UMLS:C1824291 ; oboInOwl:hasExactSynonym "NTMT1", "c9orf32", "methyltransferase-like 11a", @@ -317166,7 +330218,9 @@ OMIM:613560 a owl:Class ; "rcc1 methyltransferase, n-terminal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28989 ; - skos:exactMatch HGNC_symbol:NTMT1 ; + skos:exactMatch UMLS:C1824291, + HGNC:23373, + HGNC_symbol:NTMT1 ; biolink:category biolink:Gene . OMIM:613562 a owl:Class ; @@ -317174,13 +330228,14 @@ OMIM:613562 a owl:Class ; IAO:0000142 PMID:17213291, PMID:18991291, PMID:20519654 ; - oboInOwl:hasDbXref UMLS:C1539516 ; oboInOwl:hasExactSynonym "FCRL6", "fc receptor-like protein 6", "fcrh6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343413 ; - skos:exactMatch HGNC_symbol:FCRL6 ; + skos:exactMatch UMLS:C1539516, + HGNC:31910, + HGNC_symbol:FCRL6 ; biolink:category biolink:Gene . OMIM:613564 a owl:Class ; @@ -317193,8 +330248,8 @@ OMIM:613564 a owl:Class ; PMID:8411037, PMID:9272715 ; RO:0002525 CHR:9606chr2p12-p11.2 ; - oboInOwl:hasDbXref UMLS:C3150804 ; oboInOwl:hasExactSynonym "chromosome 2p12-p11.2 deletion syndrome" ; + skos:exactMatch UMLS:C3150804 ; biolink:category biolink:Disease . OMIM:613565 a owl:Class ; @@ -317205,14 +330260,15 @@ OMIM:613565 a owl:Class ; PMID:21317885, PMID:24344129, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1421297 ; oboInOwl:hasExactSynonym "UBE4B", "kiaa0684", "ubiquitination factor e4b", "ufd2, s. cerevisiae, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10277 ; - skos:exactMatch HGNC_symbol:UBE4B ; + skos:exactMatch UMLS:C1421297, + HGNC:12500, + HGNC_symbol:UBE4B ; biolink:category biolink:Gene . OMIM:613567 a owl:Class ; @@ -317220,7 +330276,6 @@ OMIM:613567 a owl:Class ; IAO:0000142 PMID:10486218, PMID:10718198, PMID:23533661 ; - oboInOwl:hasDbXref UMLS:C1823962 ; oboInOwl:hasExactSynonym "ZMYM6", "buster2", "kiaa1353", @@ -317229,7 +330284,9 @@ OMIM:613567 a owl:Class ; "zinc finger, mym-type 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9204 ; - skos:exactMatch HGNC_symbol:ZMYM6 ; + skos:exactMatch UMLS:C1823962, + HGNC:13050, + HGNC_symbol:ZMYM6 ; biolink:category biolink:Gene . OMIM:613568 a owl:Class ; @@ -317239,7 +330296,6 @@ OMIM:613568 a owl:Class ; PMID:12356764, PMID:22011512, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1823960 ; oboInOwl:hasExactSynonym "ZMYM4", "cell death-inhibiting RNA", "kiaa0425", @@ -317247,7 +330303,9 @@ OMIM:613568 a owl:Class ; "zinc finger, mym-type 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9202 ; - skos:exactMatch HGNC_symbol:ZMYM4 ; + skos:exactMatch UMLS:C1823960, + HGNC:13055, + HGNC_symbol:ZMYM4 ; biolink:category biolink:Gene . OMIM:613569 a owl:Class ; @@ -317261,7 +330319,6 @@ OMIM:613569 a owl:Class ; PMID:20551905, PMID:20724637, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C2828739 ; oboInOwl:hasExactSynonym "SUN2", "kiaa0668", "sad1 and unc84 domain-containing protein 2", @@ -317269,19 +330326,22 @@ OMIM:613569 a owl:Class ; "unc84, c. elegans, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25777 ; - skos:exactMatch HGNC_symbol:SUN2 ; + skos:exactMatch UMLS:C2828739, + HGNC:14210, + HGNC_symbol:SUN2 ; biolink:category biolink:Gene . OMIM:613570 a owl:Class ; rdfs:label "LDAH" ; IAO:0000142 PMID:12477932 ; - oboInOwl:hasDbXref UMLS:C1824109 ; oboInOwl:hasExactSynonym "LDAH", "chromosome 2 open reading frame 43", "lipid droplet associated hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60526 ; - skos:exactMatch HGNC_symbol:LDAH ; + skos:exactMatch UMLS:C1824109, + HGNC:26145, + HGNC_symbol:LDAH ; biolink:category biolink:Gene . OMIM:613572 a owl:Class ; @@ -317290,24 +330350,26 @@ OMIM:613572 a owl:Class ; PMID:16199532, PMID:17478059, PMID:27986810 ; - oboInOwl:hasDbXref UMLS:C1425566 ; oboInOwl:hasExactSynonym "GPRC6A", "g protein-coupled receptor, family c, group 6, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222545 ; - skos:exactMatch HGNC_symbol:GPRC6A ; + skos:exactMatch UMLS:C1425566, + HGNC:18510, + HGNC_symbol:GPRC6A ; biolink:category biolink:Gene . OMIM:613574 a owl:Class ; rdfs:label "TTC39B" ; IAO:0000142 PMID:20686565, PMID:27383786 ; - oboInOwl:hasDbXref UMLS:C1428206 ; oboInOwl:hasExactSynonym "TTC39B", "tetratricopeptide repeat domain-containing protein 39b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158219 ; - skos:exactMatch HGNC_symbol:TTC39B ; + skos:exactMatch UMLS:C1428206, + HGNC:23704, + HGNC_symbol:TTC39B ; biolink:category biolink:Gene . OMIM:613575 a owl:Class ; @@ -317315,11 +330377,11 @@ OMIM:613575 a owl:Class ; IAO:0000142 PMID:19858128, PMID:19956407, PMID:31736247 ; - oboInOwl:hasDbXref UMLS:C3150808, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP55", "retinitis pigmentosa 55" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3150808, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:613577 a owl:Class ; @@ -317342,20 +330404,21 @@ OMIM:613577 a owl:Class ; PMID:31257402 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:605021 ; - oboInOwl:hasDbXref UMLS:C0795934, - UMLS:C0917800, - UMLS:C1823245, - UMLS:C1842531, - UMLS:C2829265, - UMLS:C3809173, - UMLS:C3892048 ; oboInOwl:hasExactSynonym "TBC1D24", "kiaa1171", "skywalker, drosophila, homolog of", "tbc1 domain family, member 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57465 ; - skos:exactMatch HGNC_symbol:TBC1D24 ; + skos:exactMatch UMLS:C0795934, + UMLS:C0917800, + UMLS:C1823245, + UMLS:C1842531, + UMLS:C2829265, + UMLS:C3809173, + UMLS:C3892048, + HGNC:29203, + HGNC_symbol:TBC1D24 ; biolink:category biolink:Gene . OMIM:613578 a owl:Class ; @@ -317366,7 +330429,6 @@ OMIM:613578 a owl:Class ; PMID:8294000, PMID:8650574, PMID:9099703 ; - oboInOwl:hasDbXref UMLS:C1418972 ; oboInOwl:hasExactSynonym "PRSS3", "mesotrypsin", "mesotrypsinogen", @@ -317378,7 +330440,9 @@ OMIM:613578 a owl:Class ; "trypsinogen 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5646 ; - skos:exactMatch HGNC_symbol:PRSS3 ; + skos:exactMatch UMLS:C1418972, + HGNC:9486, + HGNC_symbol:PRSS3 ; biolink:category biolink:Gene . OMIM:613579 a owl:Class ; @@ -317390,14 +330454,15 @@ OMIM:613579 a owl:Class ; PMID:21059925, PMID:23911656, PMID:25176311 ; - oboInOwl:hasDbXref UMLS:C1539101 ; oboInOwl:hasExactSynonym "CLEC6A", "c-type lectin domain family 6, member a", "clec4n, mouse, homolog of", "dectin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93978 ; - skos:exactMatch HGNC_symbol:CLEC6A ; + skos:exactMatch UMLS:C1539101, + HGNC:14556, + HGNC_symbol:CLEC6A ; biolink:category biolink:Gene . OMIM:613580 a owl:Class ; @@ -317409,11 +330474,6 @@ OMIM:613580 a owl:Class ; PMID:27158779 ; RO:0002525 CHR:9606chr2p15 ; RO:0003303 OMIM:217085 ; - oboInOwl:hasDbXref UMLS:C1857587, - UMLS:C2681211, - UMLS:C3150127, - UMLS:C4017315, - UMLS:C4017316 ; oboInOwl:hasExactSynonym "WDPCP", "bbs15 gene", "chromosome 2 open reading frame 86", @@ -317421,7 +330481,13 @@ OMIM:613580 a owl:Class ; "wd repeat-containing planar cell polarity effector" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51057 ; - skos:exactMatch HGNC_symbol:WDPCP ; + skos:exactMatch UMLS:C1857587, + UMLS:C2681211, + UMLS:C3150127, + UMLS:C4017315, + UMLS:C4017316, + HGNC:28027, + HGNC_symbol:WDPCP ; biolink:category biolink:Gene . OMIM:613583 a owl:Class ; @@ -317436,40 +330502,43 @@ OMIM:613583 a owl:Class ; PMID:30102701 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:604317 ; - oboInOwl:hasDbXref UMLS:C1823826, - UMLS:C1858535, - UMLS:C3501830, - UMLS:C4017318 ; oboInOwl:hasExactSynonym "WDR62", "chromosome 19 open reading frame 14", "wd repeat-containing protein 62" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284403 ; - skos:exactMatch HGNC_symbol:WDR62 ; + skos:exactMatch UMLS:C1823826, + UMLS:C1858535, + UMLS:C3501830, + UMLS:C4017318, + HGNC:24502, + HGNC_symbol:WDR62 ; biolink:category biolink:Gene . OMIM:613584 a owl:Class ; rdfs:label "ALDH1L2" ; IAO:0000142 PMID:20498374 ; - oboInOwl:hasDbXref UMLS:C1538260 ; oboInOwl:hasExactSynonym "10-formyltetrahydrofolate dehydrogenase, mitochondrial", "ALDH1L2", "aldehyde dehydrogenase 1 family, member l2", "mitochondrial 10-formyltetrahydrofolate dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160428 ; - skos:exactMatch HGNC_symbol:ALDH1L2 ; + skos:exactMatch UMLS:C1538260, + HGNC:26777, + HGNC_symbol:ALDH1L2 ; biolink:category biolink:Gene . OMIM:613585 a owl:Class ; rdfs:label "TMEM147" ; IAO:0000142 PMID:20538592 ; - oboInOwl:hasDbXref UMLS:C1823412 ; oboInOwl:hasExactSynonym "TMEM147", "transmembrane protein 147" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10430 ; - skos:exactMatch HGNC_symbol:TMEM147 ; + skos:exactMatch UMLS:C1823412, + HGNC:30414, + HGNC_symbol:TMEM147 ; biolink:category biolink:Gene . OMIM:613586 a owl:Class ; @@ -317478,13 +330547,14 @@ OMIM:613586 a owl:Class ; PMID:19706509, PMID:29875412, PMID:30176151 ; - oboInOwl:hasDbXref UMLS:C1826444 ; oboInOwl:hasExactSynonym "NOB1", "nin1-binding protein 1 homolog", "nin1/rpn12-binding protein 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28987 ; - skos:exactMatch HGNC_symbol:NOB1 ; + skos:exactMatch UMLS:C1826444, + HGNC:29540, + HGNC_symbol:NOB1 ; biolink:category biolink:Gene . OMIM:613587 a owl:Class ; @@ -317501,24 +330571,25 @@ OMIM:613587 a owl:Class ; PMID:2774037, PMID:30025130, PMID:8909203 ; - oboInOwl:hasDbXref UMLS:C3150833, - ORPHA:247834 ; oboInOwl:hasExactSynonym "OCMD", "occult macular dystrophy", "omd" ; + skos:exactMatch UMLS:C3150833, + ORPHA:247834 ; biolink:category biolink:Disease . OMIM:613588 a owl:Class ; rdfs:label "CLEC3A" ; IAO:0000142 PMID:10524194, PMID:19173304 ; - oboInOwl:hasDbXref UMLS:C1539091 ; oboInOwl:hasExactSynonym "CLEC3A", "c-type lectin domain family 3, member a", "lectin, c-type, superfamily member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10143 ; - skos:exactMatch HGNC_symbol:CLEC3A ; + skos:exactMatch UMLS:C1539091, + HGNC:2052, + HGNC_symbol:CLEC3A ; biolink:category biolink:Gene . OMIM:613590 a owl:Class ; @@ -317526,14 +330597,15 @@ OMIM:613590 a owl:Class ; IAO:0000142 PMID:11170752, PMID:20208008, PMID:31919129 ; - oboInOwl:hasDbXref UMLS:C1412843 ; oboInOwl:hasExactSynonym "BTN2A1", "bt2.1", "btf1", "butyrophilin, subfamily 2, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11120 ; - skos:exactMatch HGNC_symbol:BTN2A1 ; + skos:exactMatch UMLS:C1412843, + HGNC:1136, + HGNC_symbol:BTN2A1 ; biolink:category biolink:Gene . OMIM:613591 a owl:Class ; @@ -317541,26 +330613,28 @@ OMIM:613591 a owl:Class ; IAO:0000142 PMID:11170752, PMID:20208008, PMID:26809444 ; - oboInOwl:hasDbXref UMLS:C1412844 ; oboInOwl:hasExactSynonym "BTN2A2", "bt2.2", "btf2", "butyrophilin, subfamily 2, member a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10385 ; - skos:exactMatch HGNC_symbol:BTN2A2 ; + skos:exactMatch UMLS:C1412844, + HGNC:1137, + HGNC_symbol:BTN2A2 ; biolink:category biolink:Gene . OMIM:613592 a owl:Class ; rdfs:label "BTN2A3" ; IAO:0000142 PMID:11170752, PMID:20208008 ; - oboInOwl:hasDbXref UMLS:C1421890 ; oboInOwl:hasExactSynonym "BTN2A3", "butyrophilin, subfamily 2, member a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54718 ; - skos:exactMatch HGNC_symbol:BTN2A3P ; + skos:exactMatch UMLS:C1421890, + HGNC:13229, + HGNC_symbol:BTN2A3P ; biolink:category biolink:Gene . OMIM:613593 a owl:Class ; @@ -317568,7 +330642,6 @@ OMIM:613593 a owl:Class ; IAO:0000142 PMID:11170752, PMID:20208008, PMID:32820120 ; - oboInOwl:hasDbXref UMLS:C1412845 ; oboInOwl:hasExactSynonym "BTN3A1", "bt3.1", "btf5", @@ -317576,34 +330649,38 @@ OMIM:613593 a owl:Class ; "cd277" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11119 ; - skos:exactMatch HGNC_symbol:BTN3A1 ; + skos:exactMatch UMLS:C1412845, + HGNC:1138, + HGNC_symbol:BTN3A1 ; biolink:category biolink:Gene . OMIM:613594 a owl:Class ; rdfs:label "BTN3A2" ; IAO:0000142 PMID:11170752, PMID:20208008 ; - oboInOwl:hasDbXref UMLS:C1412846 ; oboInOwl:hasExactSynonym "BTN3A2", "bt3.2", "btf4", "butyrophilin, subfamily 3, member a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11118 ; - skos:exactMatch HGNC_symbol:BTN3A2 ; + skos:exactMatch UMLS:C1412846, + HGNC:1139, + HGNC_symbol:BTN3A2 ; biolink:category biolink:Gene . OMIM:613595 a owl:Class ; rdfs:label "BTN3A3" ; IAO:0000142 PMID:11170752, PMID:20208008 ; - oboInOwl:hasDbXref UMLS:C1412847 ; oboInOwl:hasExactSynonym "BTN3A3", "btf3", "butyrophilin, subfamily 3, member a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10384 ; - skos:exactMatch HGNC_symbol:BTN3A3 ; + skos:exactMatch UMLS:C1412847, + HGNC:1140, + HGNC_symbol:BTN3A3 ; biolink:category biolink:Gene . OMIM:613596 a owl:Class ; @@ -317615,13 +330692,14 @@ OMIM:613596 a owl:Class ; PMID:31236346 ; RO:0002525 CHR:9606chr2p15 ; RO:0003303 OMIM:606068 ; - oboInOwl:hasDbXref UMLS:C1419614, - UMLS:C2681489 ; oboInOwl:hasExactSynonym "FAM161A", "family with sequence similarity 161, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84140 ; - skos:exactMatch HGNC_symbol:FAM161A ; + skos:exactMatch UMLS:C1419614, + UMLS:C2681489, + HGNC:25808, + HGNC_symbol:FAM161A ; biolink:category biolink:Gene . OMIM:613597 a owl:Class ; @@ -317631,13 +330709,14 @@ OMIM:613597 a owl:Class ; PMID:27561601 ; RO:0002525 CHR:9606chr10q24.2 ; RO:0003303 OMIM:613616 ; - oboInOwl:hasDbXref UMLS:C1538394 ; oboInOwl:hasExactSynonym "4-hydroxy-2-oxoglutarate aldolase 1", "HOGA1", "dihydrodipicolinate synthase-like, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112817 ; - skos:exactMatch HGNC_symbol:HOGA1 ; + skos:exactMatch UMLS:C1538394, + HGNC:25155, + HGNC_symbol:HOGA1 ; biolink:category biolink:Gene . OMIM:613598 a owl:Class ; @@ -317646,12 +330725,13 @@ OMIM:613598 a owl:Class ; PMID:20797688 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:613617 ; - oboInOwl:hasDbXref UMLS:C1428598 ; oboInOwl:hasExactSynonym "ZNF513", "zinc finger protein 513" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130557 ; - skos:exactMatch HGNC_symbol:ZNF513 ; + skos:exactMatch UMLS:C1428598, + HGNC:26498, + HGNC_symbol:ZNF513 ; biolink:category biolink:Gene . OMIM:613599 a owl:Class ; @@ -317661,27 +330741,28 @@ OMIM:613599 a owl:Class ; PMID:24697911 ; RO:0002525 CHR:9606chr20p11.21 ; RO:0003303 OMIM:612674 ; - oboInOwl:hasDbXref UMLS:C1825822, - UMLS:C2675204 ; oboInOwl:hasExactSynonym "ABHD12", "abhydrolase domain-containing protein 12, lysophospholipase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26090 ; - skos:exactMatch HGNC_symbol:ABHD12 ; + skos:exactMatch UMLS:C1825822, + UMLS:C2675204, + HGNC:15868, + HGNC_symbol:ABHD12 ; biolink:category biolink:Gene . OMIM:613600 a owl:Class ; rdfs:label "torsade lange pointes, short-coupled variant" ; IAO:0000142 PMID:8281648 ; - oboInOwl:hasDbXref UMLS:C3150851 ; - oboInOwl:hasExactSynonym "torsade lange pointes, short-coupled variant" . + oboInOwl:hasExactSynonym "torsade lange pointes, short-coupled variant" ; + skos:exactMatch UMLS:C3150851 . OMIM:613601 a owl:Class ; rdfs:label "early repolarization associated with ventricular fibrillation" ; IAO:0000142 PMID:18463377 ; - oboInOwl:hasDbXref UMLS:C3150852 ; oboInOwl:hasExactSynonym "early repolarization associated with ventricular fibrillation", - "early repolarization syndrome" . + "early repolarization syndrome" ; + skos:exactMatch UMLS:C3150852 . OMIM:613602 a owl:Class ; rdfs:label "WDR35" ; @@ -317701,11 +330782,6 @@ OMIM:613602 a owl:Class ; PMID:28400947 ; RO:0002525 CHR:9606chr2p24.1 ; RO:0003303 OMIM:614091 ; - oboInOwl:hasDbXref UMLS:C1428820, - UMLS:C3150874, - UMLS:C4017319, - UMLS:C4694035, - UMLS:C4747658 ; oboInOwl:hasExactSynonym "WDR35", "intraflagellar transport 121, chlamydomonas, homolog of", "kiaa1336", @@ -317713,15 +330789,21 @@ OMIM:613602 a owl:Class ; "wd repeat-containing protein 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57539 ; - skos:exactMatch HGNC_symbol:WDR35 ; + skos:exactMatch UMLS:C1428820, + UMLS:C3150874, + UMLS:C4017319, + UMLS:C4694035, + UMLS:C4747658, + HGNC:29250, + HGNC_symbol:WDR35 ; biolink:category biolink:Gene . OMIM:613603 a owl:Class ; rdfs:label "chromosome 4q32.1-q32.2 triplication syndrome" ; IAO:0000142 PMID:19764020 ; RO:0002525 CHR:9606chr4q32.1-q32.2 ; - oboInOwl:hasDbXref UMLS:C3150857 ; oboInOwl:hasExactSynonym "chromosome 4q32.1-q32.2 triplication syndrome" ; + skos:exactMatch UMLS:C3150857 ; biolink:category biolink:Disease . OMIM:613604 a owl:Class ; @@ -317731,8 +330813,8 @@ OMIM:613604 a owl:Class ; PMID:19449418, PMID:19676056 ; RO:0002525 CHR:9606chr16p12.2-p11.2 ; - oboInOwl:hasDbXref UMLS:C3150858 ; oboInOwl:hasExactSynonym "chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb" ; + skos:exactMatch UMLS:C3150858 ; biolink:category biolink:Disease . OMIM:613605 a owl:Class ; @@ -317741,7 +330823,6 @@ OMIM:613605 a owl:Class ; PMID:24026985 ; RO:0002525 CHR:9606chr10q25.2 ; RO:0003303 OMIM:615995 ; - oboInOwl:hasDbXref UMLS:C2681864 ; oboInOwl:hasExactSynonym "BBIP1", "bbs protein complex-interacting protein 1", "bbs protein complex-interacting protein, 10-kd", @@ -317750,7 +330831,9 @@ OMIM:613605 a owl:Class ; "noncoding RNA 81, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92482 ; - skos:exactMatch HGNC_symbol:BBIP1 ; + skos:exactMatch UMLS:C2681864, + HGNC:28093, + HGNC_symbol:BBIP1 ; biolink:category biolink:Gene . OMIM:613607 a owl:Class ; @@ -317762,7 +330845,6 @@ OMIM:613607 a owl:Class ; PMID:19805304, PMID:22732588, PMID:24226767 ; - oboInOwl:hasDbXref UMLS:C1427618 ; oboInOwl:hasExactSynonym "THEMIS", "chromosome 6 open reading frame 190", "grb2-associated protein", @@ -317772,7 +330854,9 @@ OMIM:613607 a owl:Class ; "thymocyte-expressed molecule involved 1n selection" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387357 ; - skos:exactMatch HGNC_symbol:THEMIS ; + skos:exactMatch UMLS:C1427618, + HGNC:21569, + HGNC_symbol:THEMIS ; biolink:category biolink:Gene . OMIM:613609 a owl:Class ; @@ -317854,7 +330938,13 @@ OMIM:613609 a owl:Class ; PMID:9851897 ; RO:0002525 CHR:9606chr6p22.2 ; RO:0003303 OMIM:176200 ; - oboInOwl:hasDbXref UMLS:C1384665, + oboInOwl:hasExactSynonym "HFE", + "hfe gene", + "hlah", + "homeostatic iron regulator" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:3077 ; + skos:exactMatch UMLS:C1384665, UMLS:C1856170, UMLS:C2673517, UMLS:C2673518, @@ -317863,14 +330953,9 @@ OMIM:613609 a owl:Class ; UMLS:C3280096, UMLS:C3469186, UMLS:C4017321, - UMLS:C4017322 ; - oboInOwl:hasExactSynonym "HFE", - "hfe gene", - "hlah", - "homeostatic iron regulator" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:3077 ; - skos:exactMatch HGNC_symbol:HFE ; + UMLS:C4017322, + HGNC:4886, + HGNC_symbol:HFE ; biolink:category biolink:Gene . OMIM:613610 a owl:Class ; @@ -317881,46 +330966,48 @@ OMIM:613610 a owl:Class ; PMID:24123776, PMID:26691894, PMID:28332779 ; - oboInOwl:hasDbXref UMLS:C3150874, - ORPHA:1515 ; oboInOwl:hasExactSynonym "CED2", "cranioectodermal dysplasia 2" ; rdfs:subClassOf OMIMPS:218330 ; + skos:exactMatch UMLS:C3150874, + ORPHA:1515 ; biolink:category biolink:Disease . OMIM:613613 a owl:Class ; rdfs:label "MIR208B" ; IAO:0000142 PMID:19922871 ; - oboInOwl:hasDbXref UMLS:C2239686 ; oboInOwl:hasExactSynonym "MIR208B", "micro RNA 208b", "mirn208b", "mirna208b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126336 ; - skos:exactMatch HGNC_symbol:MIR208B ; + skos:exactMatch UMLS:C2239686, + HGNC:33669, + HGNC_symbol:MIR208B ; biolink:category biolink:Gene . OMIM:613614 a owl:Class ; rdfs:label "MIR499" ; IAO:0000142 PMID:19922871, PMID:21186368 ; - oboInOwl:hasDbXref UMLS:C1826053 ; oboInOwl:hasExactSynonym "MIR499", "micro RNA 499", "mirn499", "mirna499" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574501 ; - skos:exactMatch HGNC_symbol:MIR499A ; + skos:exactMatch UMLS:C1826053, + HGNC:32133, + HGNC_symbol:MIR499A ; biolink:category biolink:Gene . OMIM:613618 a owl:Class ; rdfs:label "chromosome 17q23.1-q23.2 duplication syndrome" ; IAO:0000142 PMID:20598276 ; RO:0002525 CHR:9606chr17q23.1-q23.2 ; - oboInOwl:hasDbXref UMLS:C3150880 ; oboInOwl:hasExactSynonym "chromosome 17q23.1-q23.2 duplication syndrome" ; + skos:exactMatch UMLS:C3150880 ; biolink:category biolink:Disease . OMIM:613619 a owl:Class ; @@ -317933,27 +331020,29 @@ OMIM:613619 a owl:Class ; PMID:28650483 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:600920 ; - oboInOwl:hasDbXref UMLS:C1426494 ; oboInOwl:hasExactSynonym "SCARF2", "scavenger receptor class f, member 2", "scavenger receptor expressed by endothelial cells 2", "srec 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91179 ; - skos:exactMatch HGNC_symbol:SCARF2 ; + skos:exactMatch UMLS:C1426494, + HGNC:19869, + HGNC_symbol:SCARF2 ; biolink:category biolink:Gene . OMIM:613620 a owl:Class ; rdfs:label "TBC1D10B" ; IAO:0000142 PMID:16923811, PMID:19077034 ; - oboInOwl:hasDbXref UMLS:C1539932 ; oboInOwl:hasExactSynonym "TBC1D10B", "rab27agap-beta", "tbc1 domain family, member 10b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26000 ; - skos:exactMatch HGNC_symbol:TBC1D10B ; + skos:exactMatch UMLS:C1539932, + HGNC:24510, + HGNC_symbol:TBC1D10B ; biolink:category biolink:Gene . OMIM:613621 a owl:Class ; @@ -317967,14 +331056,15 @@ OMIM:613621 a owl:Class ; PMID:32518176 ; RO:0002525 CHR:9606chr14q12 ; RO:0003303 OMIM:618242 ; - oboInOwl:hasDbXref UMLS:C1538495, - UMLS:C4748792 ; oboInOwl:hasExactSynonym "NUBPL", "iron-sulfur protein required for NADH dehydrogenase", "nucleotide-binding protein-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80224 ; - skos:exactMatch HGNC_symbol:NUBPL ; + skos:exactMatch UMLS:C1538495, + UMLS:C4748792, + HGNC:20278, + HGNC_symbol:NUBPL ; biolink:category biolink:Gene . OMIM:613622 a owl:Class ; @@ -317984,19 +331074,20 @@ OMIM:613622 a owl:Class ; PMID:25678554 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:618241 ; - oboInOwl:hasDbXref UMLS:C1825311 ; oboInOwl:hasExactSynonym "FOXRED1", "fad-dependent oxidoreductase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55572 ; - skos:exactMatch HGNC_symbol:FOXRED1 ; + skos:exactMatch UMLS:C1825311, + HGNC:26927, + HGNC_symbol:FOXRED1 ; biolink:category biolink:Gene . OMIM:613623 a owl:Class ; rdfs:label "agenesis of the corpus callosum and congenital lymphedema" ; IAO:0000142 PMID:20583147 ; - oboInOwl:hasDbXref UMLS:C3150887 ; - oboInOwl:hasExactSynonym "agenesis of the corpus callosum and congenital lymphedema" . + oboInOwl:hasExactSynonym "agenesis of the corpus callosum and congenital lymphedema" ; + skos:exactMatch UMLS:C3150887 . OMIM:613624 a owl:Class ; rdfs:label "ZNF592" ; @@ -318004,13 +331095,14 @@ OMIM:613624 a owl:Class ; PMID:20531441, PMID:26123727, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1428764 ; oboInOwl:hasExactSynonym "ZNF592", "kiaa0211", "zinc finger protein 592" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9640 ; - skos:exactMatch HGNC_symbol:ZNF592 ; + skos:exactMatch UMLS:C1428764, + HGNC:28986, + HGNC_symbol:ZNF592 ; biolink:category biolink:Gene . OMIM:613626 a owl:Class ; @@ -318021,15 +331113,15 @@ OMIM:613627 a owl:Class ; rdfs:label "brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation" ; IAO:0000142 PMID:20358606, PMID:2750787 ; - oboInOwl:hasDbXref UMLS:C3150890 ; oboInOwl:hasExactSynonym "brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation", - "tsukahara syndrome" . + "tsukahara syndrome" ; + skos:exactMatch UMLS:C3150890 . OMIM:613628 a owl:Class ; rdfs:label "odontoid hypoplasia" ; IAO:0000142 PMID:19449423 ; - oboInOwl:hasDbXref UMLS:C1846439 ; oboInOwl:hasExactSynonym "odontoid hypoplasia" ; + skos:exactMatch UMLS:C1846439 ; biolink:category biolink:Disease . OMIM:613629 a owl:Class ; @@ -318059,13 +331151,14 @@ OMIM:613629 a owl:Class ; PMID:8533802 ; RO:0002525 CHR:9606chr18p11.22-p11.21 ; RO:0003303 OMIM:617146 ; - oboInOwl:hasDbXref UMLS:C1539429 ; oboInOwl:hasExactSynonym "PIEZO2", "family with sequence similarity 38, member B", "piezo-type mechanosensitive ion channel component 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63895 ; - skos:exactMatch HGNC_symbol:PIEZO2 ; + skos:exactMatch UMLS:C1539429, + HGNC:26270, + HGNC_symbol:PIEZO2 ; biolink:category biolink:Gene . OMIM:613630 a owl:Class ; @@ -318075,10 +331168,10 @@ OMIM:613630 a owl:Class ; PMID:10346820, PMID:20961246, PMID:22197489 ; - oboInOwl:hasDbXref UMLS:C3150891, - ORPHA:465824 ; oboInOwl:hasExactSynonym "cocoon syndrome", "fetal encasement syndrome" ; + skos:exactMatch UMLS:C3150891, + ORPHA:465824 ; biolink:category biolink:Disease . OMIM:613631 a owl:Class ; @@ -318086,7 +331179,6 @@ OMIM:613631 a owl:Class ; IAO:0000142 PMID:18550675, PMID:19922874, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1539397 ; oboInOwl:hasExactSynonym "WASHC2C", "family with sequence similarity 21, member c", "kiaa0592", @@ -318094,7 +331186,9 @@ OMIM:613631 a owl:Class ; "wash complex, subunit 2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253725 ; - skos:exactMatch HGNC_symbol:WASHC2C ; + skos:exactMatch UMLS:C1539397, + HGNC:23414, + HGNC_symbol:WASHC2C ; biolink:category biolink:Gene . OMIM:613632 a owl:Class ; @@ -318102,14 +331196,15 @@ OMIM:613632 a owl:Class ; IAO:0000142 PMID:18159949, PMID:19922874, PMID:25225459 ; - oboInOwl:hasDbXref UMLS:C2240171 ; oboInOwl:hasExactSynonym "WASHC1", "was protein family homolog 1", "wash", "wash complex, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100287171 ; - skos:exactMatch HGNC_symbol:WASHC1 ; + skos:exactMatch UMLS:C2240171, + HGNC:24361, + HGNC_symbol:WASHC1 ; biolink:category biolink:Gene . OMIM:613633 a owl:Class ; @@ -318117,7 +331212,6 @@ OMIM:613633 a owl:Class ; IAO:0000142 PMID:10997877, PMID:17182770, PMID:20154091 ; - oboInOwl:hasDbXref UMLS:C1824906 ; oboInOwl:hasExactSynonym "DENND1A", "connecdenn", "connecdenn 1", @@ -318125,19 +331219,22 @@ OMIM:613633 a owl:Class ; "kiaa1608" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57706 ; - skos:exactMatch HGNC_symbol:DENND1A ; + skos:exactMatch UMLS:C1824906, + HGNC:29324, + HGNC_symbol:DENND1A ; biolink:category biolink:Gene . OMIM:613634 a owl:Class ; rdfs:label "DENND1C" ; IAO:0000142 PMID:20154091 ; - oboInOwl:hasDbXref UMLS:C1824908 ; oboInOwl:hasExactSynonym "DENND1C", "connecdenn 3", "denn/madd domain-containing protein 1c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79958 ; - skos:exactMatch HGNC_symbol:DENND1C ; + skos:exactMatch UMLS:C1824908, + HGNC:26225, + HGNC_symbol:DENND1C ; biolink:category biolink:Gene . OMIM:613635 a owl:Class ; @@ -318155,14 +331252,15 @@ OMIM:613635 a owl:Class ; PMID:7709427 ; RO:0002525 CHR:9606chr7p22.1 ; RO:0003303 OMIM:618878 ; - oboInOwl:hasDbXref UMLS:C1539340, - UMLS:C5394371 ; oboInOwl:hasExactSynonym "EIF2AK1", "eukaryotic translation initiation factor 2-alpha kinase 1", "heme-regulated inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27102 ; - skos:exactMatch HGNC_symbol:EIF2AK1 ; + skos:exactMatch UMLS:C1539340, + UMLS:C5394371, + HGNC:24921, + HGNC_symbol:EIF2AK1 ; biolink:category biolink:Gene . OMIM:613638 a owl:Class ; @@ -318174,10 +331272,10 @@ OMIM:613638 a owl:Class ; PMID:20613546, PMID:7573129 ; RO:0002525 CHR:9606chr19p13.13 ; - oboInOwl:hasDbXref UMLS:C3150894, - UMLS:C3150895 ; oboInOwl:hasExactSynonym "chromosome 19p13.13 deletion syndrome", "chromosome 19p13.13 duplication syndrome" ; + skos:exactMatch UMLS:C3150894, + UMLS:C3150895 ; biolink:category biolink:Disease . OMIM:613639 a owl:Class ; @@ -318185,35 +331283,36 @@ OMIM:613639 a owl:Class ; IAO:0000142 PMID:15203201, PMID:17056209, PMID:22025619 ; - oboInOwl:hasDbXref UMLS:C1426509 ; oboInOwl:hasExactSynonym "ADGRD1", "adhesion g protein-coupled receptor d1", "g protein-coupled receptor 133", "pgr25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283383 ; - skos:exactMatch HGNC_symbol:ADGRD1 ; + skos:exactMatch UMLS:C1426509, + HGNC:19893, + HGNC_symbol:ADGRD1 ; biolink:category biolink:Gene . OMIM:613641 a owl:Class ; rdfs:label "charcot-marie-tooth disease, recessive intermediate B" ; IAO:0000142 PMID:20920668, PMID:28364294 ; - oboInOwl:hasDbXref UMLS:C3150897 ; oboInOwl:hasExactSynonym "CMTRIB", "charcot-marie-tooth disease, recessive intermediate B", "charcot-marie-tooth neuropathy, recessive intermediate B" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3150897 ; biolink:category biolink:Disease . OMIM:613642 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1gg" ; IAO:0000142 PMID:20551992 ; - oboInOwl:hasDbXref UMLS:C3150898, - ORPHA:154 ; oboInOwl:hasExactSynonym "CMD1GG", "cardiomyopathy, dilated, 1gg" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C3150898, + ORPHA:154 ; biolink:category biolink:Disease . OMIM:613644 a owl:Class ; @@ -318223,7 +331322,6 @@ OMIM:613644 a owl:Class ; PMID:15691849, PMID:16757475, PMID:19106100 ; - oboInOwl:hasDbXref UMLS:C1426677 ; oboInOwl:hasExactSynonym "ATF7IP", "activating transcription factor 7-interacting protein", "atf7-interacting protein", @@ -318232,68 +331330,75 @@ OMIM:613644 a owl:Class ; "mcaf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55729 ; - skos:exactMatch HGNC_symbol:ATF7IP ; + skos:exactMatch UMLS:C1426677, + HGNC:20092, + HGNC_symbol:ATF7IP ; biolink:category biolink:Gene . OMIM:613645 a owl:Class ; rdfs:label "ATF7IP2" ; IAO:0000142 PMID:15691849 ; - oboInOwl:hasDbXref UMLS:C1426912 ; oboInOwl:hasExactSynonym "ATF7IP2", "activating transcription factor 7-interacting protein 2", "atf7-interacting protein 2", "mbd1-containing chromatin-associated factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80063 ; - skos:exactMatch HGNC_symbol:ATF7IP2 ; + skos:exactMatch UMLS:C1426912, + HGNC:20397, + HGNC_symbol:ATF7IP2 ; biolink:category biolink:Gene . OMIM:613648 a owl:Class ; rdfs:label "MEG8" ; IAO:0000142 PMID:11337479, PMID:12045206 ; - oboInOwl:hasDbXref UMLS:C1422766 ; oboInOwl:hasExactSynonym "MEG8", "maternally expressed gene 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79104 ; - skos:exactMatch HGNC_symbol:MEG8 ; + skos:exactMatch UMLS:C1422766, + HGNC:14574, + HGNC_symbol:MEG8 ; biolink:category biolink:Gene . OMIM:613649 a owl:Class ; rdfs:label "SNORD112" ; IAO:0000142 PMID:12045206 ; - oboInOwl:hasDbXref UMLS:C1823028 ; oboInOwl:hasExactSynonym "SNORD112", "small nucleolar rna, c/d box, 112", "snorna 14q(0)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:692215 ; - skos:exactMatch HGNC_symbol:SNORD112 ; + skos:exactMatch UMLS:C1823028, + HGNC:32777, + HGNC_symbol:SNORD112 ; biolink:category biolink:Gene . OMIM:613650 a owl:Class ; rdfs:label "SNORD113-1" ; IAO:0000142 PMID:12045206 ; - oboInOwl:hasDbXref UMLS:C1823029 ; oboInOwl:hasExactSynonym "SNORD113-1", "small nucleolar rna, c/d box, 113-1", "snorna 14q(i-1)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:767561 ; - skos:exactMatch HGNC_symbol:SNORD113-1 ; + skos:exactMatch UMLS:C1823029, + HGNC:32980, + HGNC_symbol:SNORD113-1 ; biolink:category biolink:Gene . OMIM:613651 a owl:Class ; rdfs:label "SNORD114-1" ; IAO:0000142 PMID:12045206 ; - oboInOwl:hasDbXref UMLS:C1823039 ; oboInOwl:hasExactSynonym "SNORD114-1", "small nucleolar rna, c/d box, 114-1", "snorna 14q(ii-1)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:767577 ; - skos:exactMatch HGNC_symbol:SNORD114-1 ; + skos:exactMatch UMLS:C1823039, + HGNC:32989, + HGNC_symbol:SNORD114-1 ; biolink:category biolink:Gene . OMIM:613653 a owl:Class ; @@ -318304,21 +331409,21 @@ OMIM:613653 a owl:Class ; PMID:9455477 ; RO:0002525 CHR:9606chr7p22.1 ; RO:0003303 OMIM:613647 ; - oboInOwl:hasDbXref UMLS:C2239557 ; oboInOwl:hasExactSynonym "AP5Z1", "adaptor-related protein complex 5, zeta-1 subunit", "kiaa0415", "spg48 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9907 ; - skos:exactMatch HGNC_symbol:AP5Z1 ; + skos:exactMatch UMLS:C2239557, + HGNC:22197, + HGNC_symbol:AP5Z1 ; biolink:category biolink:Gene . OMIM:613654 a owl:Class ; rdfs:label "MIR380" ; IAO:0000142 PMID:15310658, PMID:20871609 ; - oboInOwl:hasDbXref UMLS:C1537901 ; oboInOwl:hasExactSynonym "MIR380", "micro RNA 380", "micro RNA 380*", @@ -318328,7 +331433,9 @@ OMIM:613654 a owl:Class ; "mirna380" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494329 ; - skos:exactMatch HGNC_symbol:MIR380 ; + skos:exactMatch UMLS:C1537901, + HGNC:31873, + HGNC_symbol:MIR380 ; biolink:category biolink:Gene . OMIM:613655 a owl:Class ; @@ -318339,15 +331446,16 @@ OMIM:613655 a owl:Class ; PMID:20871611 ; RO:0002525 CHR:9606chr10q25.3 ; RO:0003303 OMIM:613656 ; - oboInOwl:hasDbXref UMLS:C1537435, - UMLS:C4225479 ; oboInOwl:hasExactSynonym "KCNK18", "potassium channel, subfamily k, member 18", "twik-related individual k+ channel", "twik-related spinal cord k+ channel" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338567 ; - skos:exactMatch HGNC_symbol:KCNK18 ; + skos:exactMatch UMLS:C1537435, + UMLS:C4225479, + HGNC:19439, + HGNC_symbol:KCNK18 ; biolink:category biolink:Gene . OMIM:613662 a owl:Class ; @@ -318356,24 +331464,25 @@ OMIM:613662 a owl:Class ; PMID:12825077, PMID:19307547, PMID:20142534 ; - oboInOwl:hasDbXref UMLS:C3150914 ; oboInOwl:hasExactSynonym "MTDPS4B", "mitochondrial DNA depletion syndrome 4b (mngie type)", "mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related", "mngie, polg-related" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C3150914 ; biolink:category biolink:Disease . OMIM:613663 a owl:Class ; rdfs:label "SHQ1" ; IAO:0000142 PMID:19383767 ; - oboInOwl:hasDbXref UMLS:C1539769 ; oboInOwl:hasExactSynonym "SHQ1", "shq1, h/aca ribonucleoprotein assembly factor", "shq1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55164 ; - skos:exactMatch HGNC_symbol:SHQ1 ; + skos:exactMatch UMLS:C1539769, + HGNC:25543, + HGNC_symbol:SHQ1 ; biolink:category biolink:Gene . OMIM:613664 a owl:Class ; @@ -318381,13 +331490,14 @@ OMIM:613664 a owl:Class ; IAO:0000142 PMID:15327999, PMID:18310078, PMID:20634291 ; - oboInOwl:hasDbXref UMLS:C1822792 ; oboInOwl:hasExactSynonym "SMTNL1", "calponin homology-associated smooth muscle protein", "smoothelin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219537 ; - skos:exactMatch HGNC_symbol:SMTNL1 ; + skos:exactMatch UMLS:C1822792, + HGNC:32394, + HGNC_symbol:SMTNL1 ; biolink:category biolink:Gene . OMIM:613665 a owl:Class ; @@ -318434,7 +331544,6 @@ OMIM:613665 a owl:Class ; PMID:9886340 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1824884 ; oboInOwl:hasExactSynonym "ACKR1", "atypical chemokine receptor 1", "duffy antigen receptor for chemokines", @@ -318443,7 +331552,9 @@ OMIM:613665 a owl:Class ; "glycoprotein d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2532 ; - skos:exactMatch HGNC_symbol:ACKR1 ; + skos:exactMatch UMLS:C1824884, + HGNC:4035, + HGNC_symbol:ACKR1 ; biolink:category biolink:Gene . OMIM:613666 a owl:Class ; @@ -318454,8 +331565,6 @@ OMIM:613666 a owl:Class ; PMID:9039502 ; RO:0002525 CHR:9606chr13q14.3 ; RO:0003303 OMIM:613661 ; - oboInOwl:hasDbXref UMLS:C1876205, - UMLS:C3150913 ; oboInOwl:hasExactSynonym "ALG11", "alg11 alpha-1,2-mannosyltransferase", "alg11, s. cerevisiae, homolog of", @@ -318463,7 +331572,10 @@ OMIM:613666 a owl:Class ; "kiaa0266" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440138 ; - skos:exactMatch HGNC_symbol:ALG11 ; + skos:exactMatch UMLS:C1876205, + UMLS:C3150913, + HGNC:32456, + HGNC_symbol:ALG11 ; biolink:category biolink:Gene . OMIM:613667 a owl:Class ; @@ -318472,14 +331584,15 @@ OMIM:613667 a owl:Class ; PMID:21035105 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:613671 ; - oboInOwl:hasDbXref UMLS:C2240038 ; oboInOwl:hasExactSynonym "SOBP", "jackson circler protein 1, mouse, homolog of", "sine oculis-binding protein homolog", "sine oculis-binding protein, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55084 ; - skos:exactMatch HGNC_symbol:SOBP ; + skos:exactMatch UMLS:C2240038, + HGNC:29256, + HGNC_symbol:SOBP ; biolink:category biolink:Gene . OMIM:613669 a owl:Class ; @@ -318489,7 +331602,6 @@ OMIM:613669 a owl:Class ; PMID:25008111 ; RO:0002525 CHR:9606chr10p11.23 ; RO:0003303 OMIM:613672 ; - oboInOwl:hasDbXref UMLS:C1428497 ; oboInOwl:hasExactSynonym "MTPAP", "mitochondrial poly(a) polymerase", "pap-associated domain-containing protein 1", @@ -318497,7 +331609,9 @@ OMIM:613669 a owl:Class ; "poly(a) polymerase-associated domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55149 ; - skos:exactMatch HGNC_symbol:MTPAP ; + skos:exactMatch UMLS:C1428497, + HGNC:25532, + HGNC_symbol:MTPAP ; biolink:category biolink:Gene . OMIM:613673 a owl:Class ; @@ -318507,21 +331621,21 @@ OMIM:613673 a owl:Class ; PMID:7507739, PMID:7521883, PMID:7680924 ; - oboInOwl:hasDbXref UMLS:C3150926, - ORPHA:293825 ; oboInOwl:hasExactSynonym "CDAN4", "anemia, congenital dyserythropoietic, iia 4", "cda, iia 4" ; rdfs:subClassOf OMIMPS:224120 ; + skos:exactMatch UMLS:C3150926, + ORPHA:293825 ; biolink:category biolink:Disease . OMIM:613676 a owl:Class ; rdfs:label "seckel syndrome 4" ; IAO:0000142 PMID:20522431 ; - oboInOwl:hasDbXref UMLS:C3888212 ; oboInOwl:hasExactSynonym "SCKL4", "seckel syndrome 4" ; rdfs:subClassOf OMIMPS:210600 ; + skos:exactMatch UMLS:C3888212 ; biolink:category biolink:Disease . OMIM:613677 a owl:Class ; @@ -318536,20 +331650,20 @@ OMIM:613677 a owl:Class ; PMID:24420545, PMID:24574546, PMID:7119083 ; - oboInOwl:hasDbXref UMLS:C3150933 ; oboInOwl:hasExactSynonym "HALD3", "fh 3", "hyperaldosteronism, familial, iia 3" ; rdfs:subClassOf OMIMPS:103900 ; + skos:exactMatch UMLS:C3150933 ; biolink:category biolink:Disease . OMIM:613678 a owl:Class ; rdfs:label "brachyolmia iia 2" ; IAO:0000142 PMID:2669482 ; - oboInOwl:hasDbXref UMLS:C3159322 ; oboInOwl:hasExactSynonym "BCYM2", "brachyolmia iia 2", "brachyolmia, maroteaux iia" ; + skos:exactMatch UMLS:C3159322 ; biolink:category biolink:Disease . OMIM:613679 a owl:Class ; @@ -318588,11 +331702,11 @@ OMIM:613679 a owl:Class ; PMID:7362870, PMID:7740448, PMID:9863703 ; - oboInOwl:hasDbXref UMLS:C0020640, - UMLS:C0272317 ; oboInOwl:hasExactSynonym "dysprothrombinemia", "hypoprothrombinemia", "prothrombin deficiency, congenital" ; + skos:exactMatch UMLS:C0020640, + UMLS:C0272317 ; biolink:category biolink:Disease . OMIM:613681 a owl:Class ; @@ -318600,51 +331714,54 @@ OMIM:613681 a owl:Class ; IAO:0000142 PMID:20577005, PMID:21654727 ; RO:0002525 CHR:9606chr2q31.1 ; - oboInOwl:hasDbXref UMLS:C3150940 ; oboInOwl:hasExactSynonym "chromosome 2q31.1 duplication syndrome", "mesomelic dysplasia, 2q31.1 duplication-related" ; + skos:exactMatch UMLS:C3150940 ; biolink:category biolink:Disease . OMIM:613682 a owl:Class ; rdfs:label "MIR130B" ; IAO:0000142 PMID:17573714, PMID:18974142 ; - oboInOwl:hasDbXref UMLS:C1537780 ; oboInOwl:hasExactSynonym "MIR130B", "micro RNA 130b", "mirn130b", "mirna130b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406920 ; - skos:exactMatch HGNC_symbol:MIR130B ; + skos:exactMatch UMLS:C1537780, + HGNC:31515, + HGNC_symbol:MIR130B ; biolink:category biolink:Gene . OMIM:613683 a owl:Class ; rdfs:label "SLC50A1" ; IAO:0000142 PMID:21107422, PMID:8630032 ; - oboInOwl:hasDbXref UMLS:C1826764 ; oboInOwl:hasExactSynonym "SLC50A1", "rag1-activating protein 1", "solute carrier family 50 (sugar transporter), member 1", "sugar efflux transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55974 ; - skos:exactMatch HGNC_symbol:SLC50A1 ; + skos:exactMatch UMLS:C1826764, + HGNC:30657, + HGNC_symbol:SLC50A1 ; biolink:category biolink:Gene . OMIM:613687 a owl:Class ; rdfs:label "PARPBP" ; IAO:0000142 PMID:11006283, PMID:9729295 ; - oboInOwl:hasDbXref UMLS:C1824369 ; oboInOwl:hasExactSynonym "PARPBP", "antisense RNA overlapping mch", "chromosome 12 open reading frame 48", "parp1-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55010 ; - skos:exactMatch HGNC_symbol:PARPBP ; + skos:exactMatch UMLS:C1824369, + HGNC:26074, + HGNC_symbol:PARPBP ; biolink:category biolink:Gene . OMIM:613691 a owl:Class ; @@ -318652,14 +331769,15 @@ OMIM:613691 a owl:Class ; IAO:0000142 PMID:11937641, PMID:15565177, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C2266648 ; oboInOwl:hasExactSynonym "GRAMD4", "death-inducing protein", "gram domain-containing protein 4", "kiaa0767" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23151 ; - skos:exactMatch HGNC_symbol:GRAMD4 ; + skos:exactMatch UMLS:C2266648, + HGNC:29113, + HGNC_symbol:GRAMD4 ; biolink:category biolink:Gene . OMIM:613692 a owl:Class ; @@ -318670,7 +331788,6 @@ OMIM:613692 a owl:Class ; PMID:25480299, PMID:28792939, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1428762 ; oboInOwl:hasExactSynonym "TUT4", "kiaa0191", "terminal uridyltransferase 4", @@ -318678,29 +331795,32 @@ OMIM:613692 a owl:Class ; "zinc finger cchc domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23318 ; - skos:exactMatch HGNC_symbol:TUT4 ; + skos:exactMatch UMLS:C1428762, + HGNC:28981, + HGNC_symbol:TUT4 ; biolink:category biolink:Gene . OMIM:613694 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1u" ; IAO:0000142 PMID:17186461 ; - oboInOwl:hasDbXref UMLS:C3160720 ; oboInOwl:hasExactSynonym "CMD1U", "cardiomyopathy, dilated, 1u" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C3160720 ; biolink:category biolink:Disease . OMIM:613696 a owl:Class ; rdfs:label "UBTFL1" ; IAO:0000142 PMID:19915186 ; - oboInOwl:hasDbXref UMLS:C2681098 ; oboInOwl:hasExactSynonym "UBTFL1", "hmg-box protein, preimplantation stage-specific", "ubtf-like 1", "upstream binding transcription factor (rna polymerase i)-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642623 ; - skos:exactMatch HGNC_symbol:UBTFL1 ; + skos:exactMatch UMLS:C2681098, + HGNC:14533, + HGNC_symbol:UBTFL1 ; biolink:category biolink:Gene . OMIM:613698 a owl:Class ; @@ -318722,28 +331842,30 @@ OMIM:613698 a owl:Class ; PMID:9837782 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:212138 ; - oboInOwl:hasDbXref UMLS:C1413076 ; oboInOwl:hasExactSynonym "SLC25A20", "carnitine-acylcarnitine carrier", "carnitine-acylcarnitine translocase", "solute carrier family 25 (carnitine/acylcarnitine translocase), member 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:788 ; - skos:exactMatch HGNC_symbol:SLC25A20 ; + skos:exactMatch UMLS:C1413076, + HGNC:1421, + HGNC_symbol:SLC25A20 ; biolink:category biolink:Gene . OMIM:613699 a owl:Class ; rdfs:label "GLT6D1" ; IAO:0000142 PMID:19218399, PMID:19897590 ; - oboInOwl:hasDbXref UMLS:C1539575 ; oboInOwl:hasExactSynonym "GLT6D1", "gltdc1", "glycosyltransferase 6 domain-containing 1", "gt6m7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:360203 ; - skos:exactMatch HGNC_symbol:GLT6D1 ; + skos:exactMatch UMLS:C1539575, + HGNC:23671, + HGNC_symbol:GLT6D1 ; biolink:category biolink:Gene . OMIM:613700 a owl:Class ; @@ -318755,41 +331877,42 @@ OMIM:613700 a owl:Class ; PMID:302674, PMID:4420964 ; RO:0002525 CHR:9606chr22q11.2 ; - oboInOwl:hasDbXref UMLS:C3150966 ; oboInOwl:hasExactSynonym "22) SYNDROME", "supernumerary der(22)t(8" ; + skos:exactMatch UMLS:C3150966 ; biolink:category biolink:Disease . OMIM:613701 a owl:Class ; rdfs:label "MIR328" ; IAO:0000142 PMID:20211135 ; - oboInOwl:hasDbXref UMLS:C1537876 ; oboInOwl:hasExactSynonym "MIR328", "micro RNA 328", "mirn328", "mirna328" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442901 ; - skos:exactMatch HGNC_symbol:MIR328 ; + skos:exactMatch UMLS:C1537876, + HGNC:31770, + HGNC_symbol:MIR328 ; biolink:category biolink:Gene . OMIM:613702 a owl:Class ; rdfs:label "klippel-feil syndrome 3, autosomal dominant" ; IAO:0000142 PMID:15241163, PMID:19864492 ; - oboInOwl:hasDbXref UMLS:C3150967 ; oboInOwl:hasExactSynonym "KFS3", "klippel-feil syndrome 3, autosomal dominant" ; rdfs:subClassOf OMIMPS:118100 ; + skos:exactMatch UMLS:C3150967 ; biolink:category biolink:Disease . OMIM:613704 a owl:Class ; rdfs:label "microphthalmia, isolated 7" ; IAO:0000142 PMID:19864492 ; - oboInOwl:hasDbXref UMLS:C3150969 ; oboInOwl:hasExactSynonym "MCOP7", "microphthalmia, isolated 7" ; rdfs:subClassOf OMIMPS:251600 ; + skos:exactMatch UMLS:C3150969 ; biolink:category biolink:Disease . OMIM:613707 a owl:Class ; @@ -318797,19 +331920,19 @@ OMIM:613707 a owl:Class ; IAO:0000142 PMID:18042262, PMID:19206169, PMID:19416762 ; - oboInOwl:hasDbXref UMLS:C3150971 ; oboInOwl:hasExactSynonym "LPRD3", "leopard syndrome 3" ; rdfs:subClassOf OMIMPS:151100 ; + skos:exactMatch UMLS:C3150971 ; biolink:category biolink:Disease . OMIM:613708 a owl:Class ; rdfs:label "neuropathy, hereditary sensory, iia 1d" ; IAO:0000142 PMID:21194679 ; - oboInOwl:hasDbXref UMLS:C3150972 ; oboInOwl:hasExactSynonym "HSN1D", "neuropathy, hereditary sensory, iia 1d" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C3150972 ; biolink:category biolink:Disease . OMIM:613709 a owl:Class ; @@ -318820,14 +331943,15 @@ OMIM:613709 a owl:Class ; PMID:2482295, PMID:8653400, PMID:9070942 ; - oboInOwl:hasDbXref UMLS:C3147162 ; oboInOwl:hasExactSynonym "EIF2D", "eukaryotic translation initiation factor 2d", "hepatocellular carcinoma-associated antigen 56", "ligatin, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1939 ; - skos:exactMatch HGNC_symbol:EIF2D ; + skos:exactMatch UMLS:C3147162, + HGNC:6583, + HGNC_symbol:EIF2D ; biolink:category biolink:Gene . OMIM:613713 a owl:Class ; @@ -318836,24 +331960,26 @@ OMIM:613713 a owl:Class ; PMID:19481525, PMID:20870947, PMID:24896180 ; - oboInOwl:hasDbXref UMLS:C1826548 ; oboInOwl:hasExactSynonym "PCID2", "pci domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55795 ; - skos:exactMatch HGNC_symbol:PCID2 ; + skos:exactMatch UMLS:C1826548, + HGNC:25653, + HGNC_symbol:PCID2 ; biolink:category biolink:Gene . OMIM:613714 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:19528259, PMID:21422170 ; - oboInOwl:hasDbXref UMLS:C3150976 ; oboInOwl:hasExactSynonym "b7 homolog 6", "b7h6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374383 ; - skos:exactMatch HGNC_symbol:NCR3LG1 ; + skos:exactMatch UMLS:C3150976, + HGNC:42400, + HGNC_symbol:NCR3LG1 ; biolink:category biolink:Gene . OMIM:613715 a owl:Class ; @@ -318863,27 +331989,29 @@ OMIM:613715 a owl:Class ; PMID:8955128 ; RO:0002525 CHR:9606chr13q12.2 ; RO:0003303 OMIM:613717 ; - oboInOwl:hasDbXref UMLS:C1426930 ; oboInOwl:hasExactSynonym "POLR1D", "RNA polymerase a, 16-kd, mouse, homolog of", "polymerase i, rna, subunit d", "rpac2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51082 ; - skos:exactMatch HGNC_symbol:POLR1D ; + skos:exactMatch UMLS:C1426930, + HGNC:20422, + HGNC_symbol:POLR1D ; biolink:category biolink:Gene . OMIM:613716 a owl:Class ; rdfs:label "MIR661" ; IAO:0000142 PMID:19584269 ; - oboInOwl:hasDbXref UMLS:C1826240 ; oboInOwl:hasExactSynonym "MIR661", "micro RNA 661", "mirn661", "mirna661" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:724031 ; - skos:exactMatch HGNC_symbol:MIR661 ; + skos:exactMatch UMLS:C1826240, + HGNC:32917, + HGNC_symbol:MIR661 ; biolink:category biolink:Gene . OMIM:613719 a owl:Class ; @@ -318895,13 +332023,14 @@ OMIM:613719 a owl:Class ; PMID:24191262 ; RO:0002525 CHR:9606chr12q14.3 ; RO:0003303 OMIM:613718 ; - oboInOwl:hasDbXref UMLS:C1537982, - UMLS:C2239351 ; oboInOwl:hasExactSynonym "MSRB3", "methionine sulfoxide reductase b3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253827 ; - skos:exactMatch HGNC_symbol:MSRB3 ; + skos:exactMatch UMLS:C1537982, + UMLS:C2239351, + HGNC:27375, + HGNC_symbol:MSRB3 ; biolink:category biolink:Gene . OMIM:613720 a owl:Class ; @@ -318911,12 +332040,12 @@ OMIM:613720 a owl:Class ; PMID:22275249, PMID:22926866, PMID:23621294 ; - oboInOwl:hasDbXref UMLS:C3150986, - ORPHA:439218 ; oboInOwl:hasExactSynonym "DEE7", "developmental and epileptic encephalopathy 7", "epileptic encephalopathy, early infantile, 7" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3150986, + ORPHA:439218 ; biolink:category biolink:Disease . OMIM:613721 a owl:Class ; @@ -318931,25 +332060,26 @@ OMIM:613721 a owl:Class ; PMID:27276562, PMID:28379373, PMID:29844171 ; - oboInOwl:hasDbXref UMLS:C3150987, - ORPHA:1934 ; oboInOwl:hasExactSynonym "DEE11", "developmental and epileptic encephalopathy 11", "epileptic encephalopathy, early infantile, 11" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3150987, + ORPHA:1934 ; biolink:category biolink:Disease . OMIM:613725 a owl:Class ; rdfs:label "SLC25A27" ; IAO:0000142 PMID:10025957, PMID:11334880 ; - oboInOwl:hasDbXref UMLS:C1427286 ; oboInOwl:hasExactSynonym "SLC25A27", "solute carrier family 25, member 17", "uncoupling protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9481 ; - skos:exactMatch HGNC_symbol:SLC25A27 ; + skos:exactMatch UMLS:C1427286, + HGNC:21065, + HGNC_symbol:SLC25A27 ; biolink:category biolink:Gene . OMIM:613726 a owl:Class ; @@ -318959,13 +332089,14 @@ OMIM:613726 a owl:Class ; PMID:25182700 ; RO:0002525 CHR:9606chr3p22.1-p21.33 ; RO:0003303 OMIM:613728 ; - oboInOwl:hasDbXref UMLS:C1823307 ; oboInOwl:hasExactSynonym "ANO10", "anoctamin 10", "transmembrane protein 16k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55129 ; - skos:exactMatch HGNC_symbol:ANO10 ; + skos:exactMatch UMLS:C1823307, + HGNC:25519, + HGNC_symbol:ANO10 ; biolink:category biolink:Gene . OMIM:613727 a owl:Class ; @@ -318975,12 +332106,13 @@ OMIM:613727 a owl:Class ; PMID:21109227 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:609273 ; - oboInOwl:hasDbXref UMLS:C2829594 ; oboInOwl:hasExactSynonym "KBTBD13", "kelch repeat- and btb/poz domain-containing protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390594 ; - skos:exactMatch HGNC_symbol:KBTBD13 ; + skos:exactMatch UMLS:C2829594, + HGNC:37227, + HGNC_symbol:KBTBD13 ; biolink:category biolink:Gene . OMIM:613729 a owl:Class ; @@ -318991,9 +332123,9 @@ OMIM:613729 a owl:Class ; PMID:20146355, PMID:21109226 ; RO:0002525 CHR:9606chr7q11.23 ; - oboInOwl:hasDbXref UMLS:C3150999 ; oboInOwl:hasExactSynonym "chromosome 7q11.23 deletion syndrome, distal, 1.2-mb", "distal chromosome 7q11.23 deletion syndrome" ; + skos:exactMatch UMLS:C3150999 ; biolink:category biolink:Disease . OMIM:613731 a owl:Class ; @@ -319035,11 +332167,11 @@ OMIM:613731 a owl:Class ; PMID:9197578, PMID:9751768, PMID:9892703 ; - oboInOwl:hasDbXref UMLS:C3151001 ; oboInOwl:hasExactSynonym "RP4", "retinitis pigmentosa 4", "retinitis pigmentosa, rhodopsin-related" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151001 ; biolink:category biolink:Disease . OMIM:613732 a owl:Class ; @@ -319098,7 +332230,13 @@ OMIM:613733 a owl:Class ; PMID:9920087, PMID:9989505 ; RO:0002525 CHR:9606chr11q13.1 ; - oboInOwl:hasDbXref UMLS:C0025267, + oboInOwl:hasExactSynonym "MEN1", + "men1 gene", + "menin", + "menin 1" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:4221 ; + skos:exactMatch UMLS:C0025267, UMLS:C0280089, UMLS:C0694884, UMLS:C2675664, @@ -319106,14 +332244,9 @@ OMIM:613733 a owl:Class ; UMLS:C4017331, UMLS:C4017332, UMLS:C4479701, - UMLS:C4551961 ; - oboInOwl:hasExactSynonym "MEN1", - "men1 gene", - "menin", - "menin 1" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:4221 ; - skos:exactMatch HGNC_symbol:MEN1 ; + UMLS:C4551961, + HGNC:7010, + HGNC_symbol:MEN1 ; biolink:category biolink:Gene . OMIM:613734 a owl:Class ; @@ -319123,49 +332256,52 @@ OMIM:613734 a owl:Class ; PMID:26833332 ; RO:0002525 CHR:9606chr2q21.1 ; RO:0003303 OMIM:616828 ; - oboInOwl:hasDbXref UMLS:C1824644 ; oboInOwl:hasExactSynonym "CCDC115", "coiled-coil domain-containing protein 115", "coiled-coil protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84317 ; - skos:exactMatch HGNC_symbol:CCDC115 ; + skos:exactMatch UMLS:C1824644, + HGNC:28178, + HGNC_symbol:CCDC115 ; biolink:category biolink:Gene . OMIM:613737 a owl:Class ; rdfs:label "acne inversa, familial, 3" ; IAO:0000142 PMID:20929727 ; - oboInOwl:hasDbXref UMLS:C3151038 ; oboInOwl:hasExactSynonym "ACNINV3", "acne inversa, familial, 3" ; rdfs:subClassOf OMIMPS:142690 ; + skos:exactMatch UMLS:C3151038 ; biolink:category biolink:Disease . OMIM:613738 a owl:Class ; rdfs:label "AGMO" ; IAO:0000142 PMID:20643956 ; - oboInOwl:hasDbXref UMLS:C2240102 ; oboInOwl:hasExactSynonym "AGMO", "alkylglycerol monooxygenase", "glyceryl-ether monooxygenase", "transmembrane protein 195: tmem195" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:392636 ; - skos:exactMatch HGNC_symbol:AGMO ; + skos:exactMatch UMLS:C2240102, + HGNC:33784, + HGNC_symbol:AGMO ; biolink:category biolink:Gene . OMIM:613739 a owl:Class ; rdfs:label "THYN1" ; IAO:0000142 PMID:11042152, PMID:12384300 ; - oboInOwl:hasDbXref UMLS:C1823279 ; oboInOwl:hasExactSynonym "THYN1", "hematopoietic stem/progenitor cell-expressed gene 144", "thy28, chicken, homolog of", "thymocyte nuclear protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29087 ; - skos:exactMatch HGNC_symbol:THYN1 ; + skos:exactMatch UMLS:C1823279, + HGNC:29560, + HGNC_symbol:THYN1 ; biolink:category biolink:Gene . OMIM:613740 a owl:Class ; @@ -319184,13 +332320,14 @@ OMIM:613741 a owl:Class ; PMID:9536091 ; RO:0002525 CHR:9606chr14q22.1 ; RO:0003303 OMIM:232700 ; - oboInOwl:hasDbXref UMLS:C1419156 ; oboInOwl:hasExactSynonym "PYGL", "glycogen phosphorylase, liver", "lgp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5836 ; - skos:exactMatch HGNC_symbol:PYGL ; + skos:exactMatch UMLS:C1419156, + HGNC:9725, + HGNC_symbol:PYGL ; biolink:category biolink:Gene . OMIM:613742 a owl:Class ; @@ -319214,14 +332351,15 @@ OMIM:613742 a owl:Class ; PMID:9332655 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:232200 ; - oboInOwl:hasDbXref UMLS:C1414892 ; oboInOwl:hasExactSynonym "G6PC", "g6pt, formerly", "glucose-6-phosphatase, catalytic", "glucose-6-phosphatase, catalytic, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2538 ; - skos:exactMatch HGNC_symbol:G6PC1 ; + skos:exactMatch UMLS:C1414892, + HGNC:4056, + HGNC_symbol:G6PC1 ; biolink:category biolink:Gene . OMIM:613744 a owl:Class ; @@ -319229,11 +332367,11 @@ OMIM:613744 a owl:Class ; IAO:0000142 PMID:20972249, PMID:21620353, PMID:21937992 ; - oboInOwl:hasDbXref UMLS:C3151056 ; oboInOwl:hasExactSynonym "SPG51", "cerebral palsy, spastic quadriplegic, 4, formerly", "spastic paraplegia 51, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3151056 ; biolink:category biolink:Disease . OMIM:613745 a owl:Class ; @@ -319241,25 +332379,27 @@ OMIM:613745 a owl:Class ; IAO:0000142 PMID:10318877, PMID:11247669, PMID:11524682 ; - oboInOwl:hasDbXref UMLS:C1538273 ; oboInOwl:hasExactSynonym "ANAPC10", "anaphase-promoting complex, subunit 10", "apc10", "doc1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10393 ; - skos:exactMatch HGNC_symbol:ANAPC10 ; + skos:exactMatch UMLS:C1538273, + HGNC:24077, + HGNC_symbol:ANAPC10 ; biolink:category biolink:Gene . OMIM:613746 a owl:Class ; rdfs:label "BCAR4" ; IAO:0000142 PMID:20859285 ; - oboInOwl:hasDbXref UMLS:C1826416 ; oboInOwl:hasExactSynonym "BCAR4", "breast cancer antiestrogen resistance 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400500 ; - skos:exactMatch HGNC_symbol:BCAR4 ; + skos:exactMatch UMLS:C1826416, + HGNC:22170, + HGNC_symbol:BCAR4 ; biolink:category biolink:Gene . OMIM:613747 a owl:Class ; @@ -319267,12 +332407,13 @@ OMIM:613747 a owl:Class ; IAO:0000142 PMID:11416179, PMID:20670673, PMID:21620453 ; - oboInOwl:hasDbXref UMLS:C1426526 ; oboInOwl:hasExactSynonym "KIF24", "kinesin family member 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347240 ; - skos:exactMatch HGNC_symbol:KIF24 ; + skos:exactMatch UMLS:C1426526, + HGNC:19916, + HGNC_symbol:KIF24 ; biolink:category biolink:Gene . OMIM:613748 a owl:Class ; @@ -319280,7 +332421,6 @@ OMIM:613748 a owl:Class ; IAO:0000142 PMID:17242405, PMID:17624330, PMID:21081504 ; - oboInOwl:hasDbXref UMLS:C1427748 ; oboInOwl:hasExactSynonym "CHCHD3", "coiled-coil-helix-coiled-coil-helix domain-containing protein 3", "micos complex, 19-kd subunit", @@ -319289,7 +332429,9 @@ OMIM:613748 a owl:Class ; "mitochondrial inner membrane organizing system protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54927 ; - skos:exactMatch HGNC_symbol:CHCHD3 ; + skos:exactMatch UMLS:C1427748, + HGNC:21906, + HGNC_symbol:CHCHD3 ; biolink:category biolink:Gene . OMIM:613749 a owl:Class ; @@ -319297,14 +332439,15 @@ OMIM:613749 a owl:Class ; IAO:0000142 PMID:10449921, PMID:16166646, PMID:21051538 ; - oboInOwl:hasDbXref UMLS:C1823966 ; oboInOwl:hasExactSynonym "ZNF260", "phenylephrine response element complex 1, rat, homolog of", "zfp260", "zinc finger protein 260" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339324 ; - skos:exactMatch HGNC_symbol:ZNF260 ; + skos:exactMatch UMLS:C1823966, + HGNC:13499, + HGNC_symbol:ZNF260 ; biolink:category biolink:Gene . OMIM:613753 a owl:Class ; @@ -319312,49 +332455,52 @@ OMIM:613753 a owl:Class ; IAO:0000142 PMID:20378606, PMID:20478254, PMID:23558749 ; - oboInOwl:hasDbXref UMLS:C1537847 ; oboInOwl:hasExactSynonym "MIR211", "micro RNA 211", "mirn211", "mirna211" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406993 ; - skos:exactMatch HGNC_symbol:MIR211 ; + skos:exactMatch UMLS:C1537847, + HGNC:31588, + HGNC_symbol:MIR211 ; biolink:category biolink:Gene . OMIM:613754 a owl:Class ; rdfs:label "RNF187" ; IAO:0000142 PMID:20852630 ; - oboInOwl:hasDbXref UMLS:C1826840 ; oboInOwl:hasExactSynonym "RNF187", "ring domain ap1 coactivator 1", "ring finger protein 187" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149603 ; - skos:exactMatch HGNC_symbol:RNF187 ; + skos:exactMatch UMLS:C1826840, + HGNC:27146, + HGNC_symbol:RNF187 ; biolink:category biolink:Gene . OMIM:613755 a owl:Class ; rdfs:label "MIR326" ; IAO:0000142 PMID:14691248, PMID:19955368 ; - oboInOwl:hasDbXref UMLS:C1537875 ; oboInOwl:hasExactSynonym "MIR326", "micro RNA 326", "mirn326", "mirna326" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442900 ; - skos:exactMatch HGNC_symbol:MIR326 ; + skos:exactMatch UMLS:C1537875, + HGNC:31769, + HGNC_symbol:MIR326 ; biolink:category biolink:Gene . OMIM:613757 a owl:Class ; rdfs:label "macular degeneration, age-related, 6" ; IAO:0000142 PMID:15028672 ; - oboInOwl:hasDbXref UMLS:C3151060 ; oboInOwl:hasExactSynonym "ARMD6", "macular degeneration, age-related, 6" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C3151060 ; biolink:category biolink:Disease . OMIM:613760 a owl:Class ; @@ -319362,13 +332508,14 @@ OMIM:613760 a owl:Class ; IAO:0000142 PMID:12748860, PMID:20498635, PMID:21097500 ; - oboInOwl:hasDbXref UMLS:C1426310 ; oboInOwl:hasExactSynonym "SLC36A4", "proton/amino acid transporter 4", "solute carrier family 36, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120103 ; - skos:exactMatch HGNC_symbol:SLC36A4 ; + skos:exactMatch UMLS:C1426310, + HGNC:19660, + HGNC_symbol:SLC36A4 ; biolink:category biolink:Gene . OMIM:613763 a owl:Class ; @@ -319377,25 +332524,26 @@ OMIM:613763 a owl:Class ; PMID:16505043, PMID:16877416, PMID:19461931 ; - oboInOwl:hasDbXref UMLS:C3151065, - UMLS:C3808377 ; oboInOwl:hasExactSynonym "CTRCT16", "cataract 16, multiple types", "cataract, congenital lamellar", "cataract, posterior polar, 2" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3151065, + UMLS:C3808377 ; biolink:category biolink:Disease . OMIM:613764 a owl:Class ; rdfs:label "SCAMP4" ; IAO:0000142 PMID:11050114, PMID:11295240 ; - oboInOwl:hasDbXref UMLS:C1428973 ; oboInOwl:hasExactSynonym "SCAMP4", "secretory carrier membrane protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113178 ; - skos:exactMatch HGNC_symbol:SCAMP4 ; + skos:exactMatch UMLS:C1428973, + HGNC:30385, + HGNC_symbol:SCAMP4 ; biolink:category biolink:Gene . OMIM:613765 a owl:Class ; @@ -319403,10 +332551,10 @@ OMIM:613765 a owl:Class ; IAO:0000142 PMID:10462489, PMID:22335739, PMID:23396983 ; - oboInOwl:hasDbXref UMLS:C1861065 ; oboInOwl:hasExactSynonym "CMH9", "cardiomyopathy, familial hypertrophic, 9" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C1861065 ; biolink:category biolink:Disease . OMIM:613766 a owl:Class ; @@ -319417,13 +332565,14 @@ OMIM:613766 a owl:Class ; PMID:25057210, PMID:31439720, PMID:32020363 ; - oboInOwl:hasDbXref UMLS:C1428974, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "SCAMP5", "secretory carrier membrane protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:192683 ; - skos:exactMatch HGNC_symbol:SCAMP5 ; + skos:exactMatch UMLS:C1428974, + UMLS:C2986382, + HGNC:30386, + HGNC_symbol:SCAMP5 ; biolink:category biolink:Gene . OMIM:613768 a owl:Class ; @@ -319436,8 +332585,6 @@ OMIM:613768 a owl:Class ; PMID:22931863 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:607151 ; - oboInOwl:hasDbXref UMLS:C1422738, - UMLS:C3151472 ; oboInOwl:hasExactSynonym "RNF213", "alk lymphoma oligomerization partner on chromosome 17", "kiaa1618", @@ -319445,56 +332592,63 @@ OMIM:613768 a owl:Class ; "rnf213/alk fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57674 ; - skos:exactMatch HGNC_symbol:RNF213 ; + skos:exactMatch UMLS:C1422738, + UMLS:C3151472, + HGNC:14539, + HGNC_symbol:RNF213 ; biolink:category biolink:Gene . OMIM:613770 a owl:Class ; rdfs:label "PLAC4" ; IAO:0000142 PMID:19892844, PMID:8406465 ; - oboInOwl:hasDbXref UMLS:C1422789 ; oboInOwl:hasExactSynonym "PLAC4", "placenta-specific gene 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:191585 ; - skos:exactMatch HGNC_symbol:PLAC4 ; + skos:exactMatch UMLS:C1422789, + HGNC:14616, + HGNC_symbol:PLAC4 ; biolink:category biolink:Gene . OMIM:613771 a owl:Class ; rdfs:label "TMEM205" ; IAO:0000142 PMID:20589834 ; - oboInOwl:hasDbXref UMLS:C2240110 ; oboInOwl:hasExactSynonym "TMEM205", "transmembrane protein 205" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374882 ; - skos:exactMatch HGNC_symbol:TMEM205 ; + skos:exactMatch UMLS:C2240110, + HGNC:29631, + HGNC_symbol:TMEM205 ; biolink:category biolink:Gene . OMIM:613772 a owl:Class ; rdfs:label "KLHL14" ; IAO:0000142 PMID:10718198, PMID:19535332 ; - oboInOwl:hasDbXref UMLS:C1537494 ; oboInOwl:hasExactSynonym "KLHL14", "kelch-like 14", "kiaa1384", "protein interactor of torsin a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57565 ; - skos:exactMatch HGNC_symbol:KLHL14 ; + skos:exactMatch UMLS:C1537494, + HGNC:29266, + HGNC_symbol:KLHL14 ; biolink:category biolink:Gene . OMIM:613773 a owl:Class ; rdfs:label "IGSF9B" ; IAO:0000142 PMID:10470851 ; - oboInOwl:hasDbXref UMLS:C1825585 ; oboInOwl:hasExactSynonym "IGSF9B", "immunoglobulin superfamily, member 9b", "kiaa1030" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22997 ; - skos:exactMatch HGNC_symbol:IGSF9B ; + skos:exactMatch UMLS:C1825585, + HGNC:32326, + HGNC_symbol:IGSF9B ; biolink:category biolink:Gene . OMIM:613774 a owl:Class ; @@ -319502,19 +332656,19 @@ OMIM:613774 a owl:Class ; IAO:0000142 PMID:19508979, PMID:20946984, PMID:22319583 ; - oboInOwl:hasDbXref UMLS:C1426552 ; oboInOwl:hasExactSynonym "CAMSAP1", "calmodulin-regulated spectrin-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157922 ; - skos:exactMatch HGNC_symbol:CAMSAP1 ; + skos:exactMatch UMLS:C1426552, + HGNC:19946, + HGNC_symbol:CAMSAP1 ; biolink:category biolink:Gene . OMIM:613775 a owl:Class ; rdfs:label "CAMSAP2" ; IAO:0000142 PMID:10470851, PMID:19508979 ; - oboInOwl:hasDbXref UMLS:C1824524 ; oboInOwl:hasExactSynonym "CAMSAP2", "calmodulin-regulated spectrin-associated protein 1-like 1", "calmodulin-regulated spectrin-associated protein 2", @@ -319522,7 +332676,9 @@ OMIM:613775 a owl:Class ; "kiaa1078" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23271 ; - skos:exactMatch HGNC_symbol:CAMSAP2 ; + skos:exactMatch UMLS:C1824524, + HGNC:29188, + HGNC_symbol:CAMSAP2 ; biolink:category biolink:Gene . OMIM:613776 a owl:Class ; @@ -319532,20 +332688,21 @@ OMIM:613776 a owl:Class ; PMID:20425836, PMID:21056402 ; RO:0002525 CHR:9606chr17p13.1 ; - oboInOwl:hasDbXref UMLS:C3151069 ; oboInOwl:hasExactSynonym "chromosome 17p13.1 deletion syndrome" ; + skos:exactMatch UMLS:C3151069 ; biolink:category biolink:Disease . OMIM:613777 a owl:Class ; rdfs:label "FOXRED2" ; IAO:0000142 PMID:19706418 ; - oboInOwl:hasDbXref UMLS:C1825312 ; oboInOwl:hasExactSynonym "FOXRED2", "endoplasmic reticulum flavoprotein associated with degradation", "fad-dependent oxidoreductase domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80020 ; - skos:exactMatch HGNC_symbol:FOXRED2 ; + skos:exactMatch UMLS:C1825312, + HGNC:26264, + HGNC_symbol:FOXRED2 ; biolink:category biolink:Gene . OMIM:613779 a owl:Class ; @@ -319563,10 +332720,10 @@ OMIM:613779 a owl:Class ; PMID:7306227, PMID:7358404, PMID:7369233 ; - oboInOwl:hasDbXref UMLS:C3151071 ; oboInOwl:hasExactSynonym "C3D", "c3 deficiency, autosomal recessive", "complement component 3 deficiency, autosomal recessive" ; + skos:exactMatch UMLS:C3151071 ; biolink:category biolink:Disease . OMIM:613780 a owl:Class ; @@ -319576,24 +332733,25 @@ OMIM:613780 a owl:Class ; PMID:27586135, PMID:28401540, PMID:29544503 ; - oboInOwl:hasDbXref UMLS:C3151077, - ORPHA:91387 ; oboInOwl:hasExactSynonym "AAT7", "aortic aneurysm, familial thoracic 7", "aortic dissection, familial, with or without aortic aneurysm" ; rdfs:subClassOf OMIMPS:607086 ; + skos:exactMatch UMLS:C3151077, + ORPHA:91387 ; biolink:category biolink:Disease . OMIM:613781 a owl:Class ; rdfs:label "CCDC125" ; IAO:0000142 PMID:19787194 ; - oboInOwl:hasDbXref UMLS:C1824652 ; oboInOwl:hasExactSynonym "CCDC125", "coiled-coil domain-containing protein 125", "kenae" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:202243 ; - skos:exactMatch HGNC_symbol:CCDC125 ; + skos:exactMatch UMLS:C1824652, + HGNC:28924, + HGNC_symbol:CCDC125 ; biolink:category biolink:Gene . OMIM:613782 a owl:Class ; @@ -319601,33 +332759,34 @@ OMIM:613782 a owl:Class ; IAO:0000142 PMID:10375640, PMID:14699060, PMID:18424444 ; - oboInOwl:hasDbXref UMLS:C1537981 ; oboInOwl:hasExactSynonym "MSRB2", "cbs1", "methionine sulfoxide reductase b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22921 ; - skos:exactMatch HGNC_symbol:MSRB2 ; + skos:exactMatch UMLS:C1537981, + HGNC:17061, + HGNC_symbol:MSRB2 ; biolink:category biolink:Gene . OMIM:613783 a owl:Class ; rdfs:label "complement component c1s deficiency" ; IAO:0000142 PMID:11390518, PMID:9856483 ; - oboInOwl:hasDbXref UMLS:C3151078 ; oboInOwl:hasExactSynonym "C1SD", "c1s deficiency", "complement component c1s deficiency" ; + skos:exactMatch UMLS:C3151078 ; biolink:category biolink:Disease . OMIM:613784 a owl:Class ; rdfs:label "macular degeneration, age-related, 12" ; IAO:0000142 PMID:15208270, PMID:17909628 ; - oboInOwl:hasDbXref UMLS:C3151079 ; oboInOwl:hasExactSynonym "ARMD12", "macular degeneration, age-related, 12" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C3151079 ; biolink:category biolink:Disease . OMIM:613785 a owl:Class ; @@ -319649,13 +332808,14 @@ OMIM:613785 a owl:Class ; PMID:3198132 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:130080 ; - oboInOwl:hasDbXref UMLS:C1412936 ; oboInOwl:hasExactSynonym "C1R", "complement component 1, r subcomponent", "complement component c1r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:715 ; - skos:exactMatch HGNC_symbol:C1R ; + skos:exactMatch UMLS:C1412936, + HGNC:1246, + HGNC_symbol:C1R ; biolink:category biolink:Gene . OMIM:613786 a owl:Class ; @@ -319664,14 +332824,15 @@ OMIM:613786 a owl:Class ; PMID:21068402, PMID:21499264, PMID:21907013 ; - oboInOwl:hasDbXref UMLS:C1537802 ; oboInOwl:hasExactSynonym "MIR148A", "micro RNA 148a", "mirn148a", "mirna148a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406940 ; - skos:exactMatch HGNC_symbol:MIR148A ; + skos:exactMatch UMLS:C1537802, + HGNC:31535, + HGNC_symbol:MIR148A ; biolink:category biolink:Gene . OMIM:613787 a owl:Class ; @@ -319679,27 +332840,29 @@ OMIM:613787 a owl:Class ; IAO:0000142 PMID:21068402, PMID:21499264, PMID:28656878 ; - oboInOwl:hasDbXref UMLS:C1537803 ; oboInOwl:hasExactSynonym "MIR148B", "micro RNA 148b", "mirn148b", "mirna148b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442892 ; - skos:exactMatch HGNC_symbol:MIR148B ; + skos:exactMatch UMLS:C1537803, + HGNC:31761, + HGNC_symbol:MIR148B ; biolink:category biolink:Gene . OMIM:613788 a owl:Class ; rdfs:label "MIR152" ; IAO:0000142 PMID:21068402 ; - oboInOwl:hasDbXref UMLS:C1537807 ; oboInOwl:hasExactSynonym "MIR152", "micro RNA 152", "mirn152", "mirna152" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406943 ; - skos:exactMatch HGNC_symbol:MIR152 ; + skos:exactMatch UMLS:C1537807, + HGNC:31538, + HGNC_symbol:MIR152 ; biolink:category biolink:Gene . OMIM:613792 a owl:Class ; @@ -319725,9 +332888,9 @@ OMIM:613792 a owl:Class ; PMID:8103286, PMID:8933338 ; RO:0002525 CHR:9606chr3pter-p25 ; - oboInOwl:hasDbXref UMLS:C0795806 ; oboInOwl:hasExactSynonym "3p- syndrome", "chromosome 3pter-p25 deletion syndrome" ; + skos:exactMatch UMLS:C0795806 ; biolink:category biolink:Disease . OMIM:613794 a owl:Class ; @@ -319735,10 +332898,10 @@ OMIM:613794 a owl:Class ; IAO:0000142 PMID:15557452, PMID:9326941, PMID:9501220 ; - oboInOwl:hasDbXref UMLS:C3151086 ; oboInOwl:hasExactSynonym "RP20", "retinitis pigmentosa 20" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151086 ; biolink:category biolink:Disease . OMIM:613796 a owl:Class ; @@ -319748,24 +332911,25 @@ OMIM:613796 a owl:Class ; PMID:19084105, PMID:20841510, PMID:9284918 ; - oboInOwl:hasDbXref UMLS:C3151088 ; oboInOwl:hasExactSynonym "IMD31B", "immunodeficiency 31b", "immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive", "stat1 deficiency, autosomal recessive" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3151088 ; biolink:category biolink:Disease . OMIM:613797 a owl:Class ; rdfs:label "PRSS33" ; IAO:0000142 PMID:12795636 ; - oboInOwl:hasDbXref UMLS:C1538729 ; oboInOwl:hasExactSynonym "PRSS33", "eos", "protease, serine, 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:260429 ; - skos:exactMatch HGNC_symbol:PRSS33 ; + skos:exactMatch UMLS:C1538729, + HGNC:30405, + HGNC_symbol:PRSS33 ; biolink:category biolink:Gene . OMIM:613798 a owl:Class ; @@ -319775,12 +332939,13 @@ OMIM:613798 a owl:Class ; PMID:23255504 ; RO:0002525 CHR:9606chr3q26.33 ; RO:0003303 OMIM:613807 ; - oboInOwl:hasDbXref UMLS:C1824563 ; oboInOwl:hasExactSynonym "CCDC39", "coiled-coil domain-containing protein 39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339829 ; - skos:exactMatch HGNC_symbol:CCDC39 ; + skos:exactMatch UMLS:C1824563, + HGNC:25244, + HGNC_symbol:CCDC39 ; biolink:category biolink:Gene . OMIM:613799 a owl:Class ; @@ -319790,26 +332955,28 @@ OMIM:613799 a owl:Class ; PMID:23255504 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:613808 ; - oboInOwl:hasDbXref UMLS:C1824564 ; oboInOwl:hasExactSynonym "CCDC40", "coiled-coil domain-containing protein 40", "kiaa1640" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55036 ; - skos:exactMatch HGNC_symbol:CCDC40 ; + skos:exactMatch UMLS:C1824564, + HGNC:26090, + HGNC_symbol:CCDC40 ; biolink:category biolink:Gene . OMIM:613802 a owl:Class ; rdfs:label "MLEC" ; IAO:0000142 PMID:18524852, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C2681835 ; oboInOwl:hasExactSynonym "MLEC", "kiaa0152", "malectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9761 ; - skos:exactMatch HGNC_symbol:MLEC ; + skos:exactMatch UMLS:C2681835, + HGNC:28973, + HGNC_symbol:MLEC ; biolink:category biolink:Gene . OMIM:613809 a owl:Class ; @@ -319818,32 +332985,33 @@ OMIM:613809 a owl:Class ; PMID:12427073, PMID:17296898, PMID:20507924 ; - oboInOwl:hasDbXref UMLS:C3151138 ; oboInOwl:hasExactSynonym "RP39", "retinitis pigmentosa 39" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151138 ; biolink:category biolink:Disease . OMIM:613812 a owl:Class ; rdfs:label "bile acid synthesis defect, congenital, 3" ; IAO:0000142 PMID:9802883 ; - oboInOwl:hasDbXref UMLS:C3151147 ; oboInOwl:hasExactSynonym "CBAS3", "bile acid synthesis defect, congenital, 3" ; rdfs:subClassOf OMIMPS:607765 ; + skos:exactMatch UMLS:C3151147 ; biolink:category biolink:Disease . OMIM:613813 a owl:Class ; rdfs:label "MDM1" ; IAO:0000142 PMID:18805803, PMID:3182840 ; - oboInOwl:hasDbXref UMLS:C1537674 ; oboInOwl:hasExactSynonym "MDM1", "mdm1 nuclear protein", "mouse double minute 1 homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56890 ; - skos:exactMatch HGNC_symbol:MDM1 ; + skos:exactMatch UMLS:C1537674, + HGNC:29917, + HGNC_symbol:MDM1 ; biolink:category biolink:Gene . OMIM:613814 a owl:Class ; @@ -319854,12 +333022,13 @@ OMIM:613814 a owl:Class ; PMID:24397319 ; RO:0002525 CHR:9606chr17p12 ; RO:0003303 OMIM:615157 ; - oboInOwl:hasDbXref UMLS:C1540115 ; oboInOwl:hasExactSynonym "TTC19", "tetratricopeptide repeat domain-containing protein 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54902 ; - skos:exactMatch HGNC_symbol:TTC19 ; + skos:exactMatch UMLS:C1540115, + HGNC:26006, + HGNC_symbol:TTC19 ; biolink:category biolink:Gene . OMIM:613815 a owl:Class ; @@ -319947,8 +333116,6 @@ OMIM:613815 a owl:Class ; PMID:9863599 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:201910 ; - oboInOwl:hasDbXref UMLS:C1413860, - UMLS:C1413861 ; oboInOwl:hasExactSynonym "21-hydroxylase B", "CYP21A2", "ca21h", @@ -319960,7 +333127,10 @@ OMIM:613815 a owl:Class ; "steroid cytochrome p450 21-hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1589 ; - skos:exactMatch HGNC_symbol:CYP21A2 ; + skos:exactMatch UMLS:C1413860, + UMLS:C1413861, + HGNC:2600, + HGNC_symbol:CYP21A2 ; biolink:category biolink:Gene . OMIM:613816 a owl:Class ; @@ -319969,36 +333139,38 @@ OMIM:613816 a owl:Class ; PMID:33340455 ; RO:0002525 CHR:9606chr14q32.12 ; RO:0003303 OMIM:619189 ; - oboInOwl:hasDbXref UMLS:C2681097 ; oboInOwl:hasExactSynonym "UBR7", "ubiquitin protein ligase e3 component n-recognin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55148 ; - skos:exactMatch HGNC_symbol:UBR7 ; + skos:exactMatch UMLS:C2681097, + HGNC:20344, + HGNC_symbol:UBR7 ; biolink:category biolink:Gene . OMIM:613817 a owl:Class ; rdfs:label "SPATS2L" ; IAO:0000142 PMID:19005571 ; - oboInOwl:hasDbXref UMLS:C2828720 ; oboInOwl:hasExactSynonym "SPATS2L", "spats2-like", "spermatogenesis-associated serine-rich protein 2-like", "stress granule and nucleolar protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26010 ; - skos:exactMatch HGNC_symbol:SPATS2L ; + skos:exactMatch UMLS:C2828720, + HGNC:24574, + HGNC_symbol:SPATS2L ; biolink:category biolink:Gene . OMIM:613820 a owl:Class ; rdfs:label "nephronophthisis 12" ; IAO:0000142 PMID:21258341 ; - oboInOwl:hasDbXref UMLS:C3151186, - UMLS:C3279203 ; oboInOwl:hasExactSynonym "NPHP12", "joubert syndrome 11", "nephronophthisis 12" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C3151186, + UMLS:C3279203 ; biolink:category biolink:Disease . OMIM:613821 a owl:Class ; @@ -320006,7 +333178,6 @@ OMIM:613821 a owl:Class ; IAO:0000142 PMID:15865209, PMID:1718268, PMID:26429887 ; - oboInOwl:hasDbXref UMLS:C1418849 ; oboInOwl:hasExactSynonym "PPP3R2", "calcineurin b-like protein", "ppp3r1-like: ppp3rl", @@ -320014,7 +333185,9 @@ OMIM:613821 a owl:Class ; "protein phosphatase 3, regulatory subunit b, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5535 ; - skos:exactMatch HGNC_symbol:PPP3R2 ; + skos:exactMatch UMLS:C1418849, + HGNC:9318, + HGNC_symbol:PPP3R2 ; biolink:category biolink:Gene . OMIM:613822 a owl:Class ; @@ -320022,22 +333195,23 @@ OMIM:613822 a owl:Class ; IAO:0000142 PMID:10769191, PMID:16085932, PMID:20154705 ; - oboInOwl:hasDbXref UMLS:C1425429 ; oboInOwl:hasExactSynonym "PPP4R2", "pp4r2", "protein phosphatase 4, regulatory subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151987 ; - skos:exactMatch HGNC_symbol:PPP4R2 ; + skos:exactMatch UMLS:C1425429, + HGNC:18296, + HGNC_symbol:PPP4R2 ; biolink:category biolink:Gene . OMIM:613824 a owl:Class ; rdfs:label "nephronophthisis 9" ; IAO:0000142 PMID:18199800 ; - oboInOwl:hasDbXref UMLS:C3151188 ; oboInOwl:hasExactSynonym "NPHP9", "nephronophthisis 9" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C3151188 ; biolink:category biolink:Disease . OMIM:613825 a owl:Class ; @@ -320055,21 +333229,22 @@ OMIM:613825 a owl:Class ; PMID:9182899, PMID:9570574, PMID:9634479 ; - oboInOwl:hasDbXref UMLS:C3151189 ; oboInOwl:hasExactSynonym "C9D", "c9 deficiency", "complement component 9 deficiency" ; + skos:exactMatch UMLS:C3151189 ; biolink:category biolink:Disease . OMIM:613831 a owl:Class ; rdfs:label "UBR3" ; IAO:0000142 PMID:17462990 ; - oboInOwl:hasDbXref UMLS:C1538218 ; oboInOwl:hasExactSynonym "UBR3", "ubiquitin protein ligase e3 component n-recognin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130507 ; - skos:exactMatch HGNC_symbol:UBR3 ; + skos:exactMatch UMLS:C1538218, + HGNC:30467, + HGNC_symbol:UBR3 ; biolink:category biolink:Gene . OMIM:613832 a owl:Class ; @@ -320079,7 +333254,6 @@ OMIM:613832 a owl:Class ; OMIM:613833 a owl:Class ; rdfs:label "KANSL1L" ; IAO:0000142 PMID:16227571 ; - oboInOwl:hasDbXref UMLS:C2240261 ; oboInOwl:hasExactSynonym "KANSL1L", "chromosome 2 open reading frame 67", "kansl1-like protein", @@ -320087,7 +333261,9 @@ OMIM:613833 a owl:Class ; "msl1v2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151050 ; - skos:exactMatch HGNC_symbol:KANSL1L ; + skos:exactMatch UMLS:C2240261, + HGNC:26310, + HGNC_symbol:KANSL1L ; biolink:category biolink:Gene . OMIM:613835 a owl:Class ; @@ -320097,42 +333273,44 @@ OMIM:613835 a owl:Class ; PMID:15024725, PMID:16543197, PMID:20006823 ; - oboInOwl:hasDbXref UMLS:C3151202 ; oboInOwl:hasExactSynonym "LCA8", "leber congenital amaurosis 8" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C3151202 ; biolink:category biolink:Disease . OMIM:613837 a owl:Class ; rdfs:label "leber congenital amaurosis 11" ; IAO:0000142 PMID:16384941, PMID:20006823 ; - oboInOwl:hasDbXref UMLS:C1840284 ; oboInOwl:hasExactSynonym "LCA11", "leber congenital amaurosis 11" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C1840284 ; biolink:category biolink:Disease . OMIM:613840 a owl:Class ; rdfs:label "ZNF304" ; IAO:0000142 PMID:12051768 ; - oboInOwl:hasDbXref UMLS:C1422026 ; oboInOwl:hasExactSynonym "ZNF304", "zinc finger protein 304" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57343 ; - skos:exactMatch HGNC_symbol:ZNF304 ; + skos:exactMatch UMLS:C1422026, + HGNC:13505, + HGNC_symbol:ZNF304 ; biolink:category biolink:Gene . OMIM:613841 a owl:Class ; rdfs:label "UBN2" ; IAO:0000142 PMID:19029251 ; - oboInOwl:hasDbXref UMLS:C2681096 ; oboInOwl:hasExactSynonym "UBN2", "ubinuclein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254048 ; - skos:exactMatch HGNC_symbol:UBN2 ; + skos:exactMatch UMLS:C2681096, + HGNC:21931, + HGNC_symbol:UBN2 ; biolink:category biolink:Gene . OMIM:613842 a owl:Class ; @@ -320143,13 +333321,14 @@ OMIM:613842 a owl:Class ; PMID:28475863 ; RO:0002525 CHR:9606chr20p11.21 ; RO:0003303 OMIM:617662 ; - oboInOwl:hasDbXref UMLS:C1825438 ; oboInOwl:hasExactSynonym "GZF1", "gdnf-inducible zinc finger protein 1", "zinc finger protein 336" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64412 ; - skos:exactMatch HGNC_symbol:GZF1 ; + skos:exactMatch UMLS:C1825438, + HGNC:15808, + HGNC_symbol:GZF1 ; biolink:category biolink:Gene . OMIM:613843 a owl:Class ; @@ -320158,12 +333337,12 @@ OMIM:613843 a owl:Class ; PMID:17962469, PMID:18055821, PMID:9326941 ; - oboInOwl:hasDbXref UMLS:C1838603, - UMLS:C3151206 ; oboInOwl:hasExactSynonym "LCA15", "leber congenital amaurosis 15", "retinitis pigmentosa, juvenile, tulp1-related" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C1838603, + UMLS:C3151206 ; biolink:category biolink:Disease . OMIM:613844 a owl:Class ; @@ -320171,9 +333350,6 @@ OMIM:613844 a owl:Class ; IAO:0000142 PMID:12881716, PMID:2826252, PMID:7684318 ; - oboInOwl:hasDbXref UMLS:C1421373, - UMLS:C3151207, - UMLS:C3151208 ; oboInOwl:hasExactSynonym "UQCRH", "hinge protein, mitochondrial", "ubiquinol-cytochrome c reductase hinge protein", @@ -320181,7 +333357,11 @@ OMIM:613844 a owl:Class ; "uqcrh/zsg fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7388 ; - skos:exactMatch HGNC_symbol:UQCRH ; + skos:exactMatch UMLS:C1421373, + UMLS:C3151207, + UMLS:C3151208, + HGNC:12590, + HGNC_symbol:UQCRH ; biolink:category biolink:Gene . OMIM:613846 a owl:Class ; @@ -320193,13 +333373,14 @@ OMIM:613846 a owl:Class ; PMID:25118024 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:616654 ; - oboInOwl:hasDbXref UMLS:C1824359 ; oboInOwl:hasExactSynonym "TCTN2", "tectonic 2", "tectonic family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79867 ; - skos:exactMatch HGNC_symbol:TCTN2 ; + skos:exactMatch UMLS:C1824359, + HGNC:25774, + HGNC_symbol:TCTN2 ; biolink:category biolink:Gene . OMIM:613847 a owl:Class ; @@ -320208,25 +333389,26 @@ OMIM:613847 a owl:Class ; PMID:22883145 ; RO:0002525 CHR:9606chr10q24.1 ; RO:0003303 OMIM:258860 ; - oboInOwl:hasDbXref UMLS:C1538392 ; oboInOwl:hasExactSynonym "TCTN3", "chromosome 10 open reading frame 61", "tectonic 3", "tectonic family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26123 ; - skos:exactMatch HGNC_symbol:TCTN3 ; + skos:exactMatch UMLS:C1538392, + HGNC:24519, + HGNC_symbol:TCTN3 ; biolink:category biolink:Gene . OMIM:613848 a owl:Class ; rdfs:label "osteogenesis imperfecta, iia 10" ; IAO:0000142 PMID:20188343, PMID:25510505 ; - oboInOwl:hasDbXref UMLS:C3151211 ; oboInOwl:hasExactSynonym "OI10", "oi, iia 10", "osteogenesis imperfecta, iia 10" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C3151211 ; biolink:category biolink:Disease . OMIM:613851 a owl:Class ; @@ -320235,13 +333417,14 @@ OMIM:613851 a owl:Class ; PMID:14622217, PMID:19368807, PMID:20147288 ; - oboInOwl:hasDbXref UMLS:C1425446 ; oboInOwl:hasExactSynonym "PRIMA1", "prima", "proline-rich membrane anchor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145270 ; - skos:exactMatch HGNC_symbol:PRIMA1 ; + skos:exactMatch UMLS:C1425446, + HGNC:18319, + HGNC_symbol:PRIMA1 ; biolink:category biolink:Gene . OMIM:613853 a owl:Class ; @@ -320252,21 +333435,21 @@ OMIM:613854 a owl:Class ; rdfs:label "congenital heart defects, multiple types, 6" ; IAO:0000142 PMID:17924340, PMID:28991257 ; - oboInOwl:hasDbXref UMLS:C3151221, - ORPHA:860 ; oboInOwl:hasExactSynonym "CHTD6", "congenital heart defects, multiple types, 6", "transposition of the great arteries, dextro-looped 3, formerly" ; + skos:exactMatch UMLS:C3151221, + ORPHA:860 ; biolink:category biolink:Disease . OMIM:613855 a owl:Class ; rdfs:label "episodic ataxia, iia 5" ; IAO:0000142 PMID:10762541, PMID:16100538 ; - oboInOwl:hasDbXref UMLS:C1866039 ; oboInOwl:hasExactSynonym "EA5", "episodic ataxia, iia 5" ; rdfs:subClassOf OMIMPS:160120 ; + skos:exactMatch UMLS:C1866039 ; biolink:category biolink:Disease . OMIM:613858 a owl:Class ; @@ -320282,49 +333465,53 @@ OMIM:613858 a owl:Class ; PMID:29529029 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:613517 ; - oboInOwl:hasDbXref UMLS:C3148643 ; oboInOwl:hasExactSynonym "PRSS56", "protease, serine, 56" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:646960 ; - skos:exactMatch HGNC_symbol:PRSS56 ; + skos:exactMatch UMLS:C3148643, + HGNC:39433, + HGNC_symbol:PRSS56 ; biolink:category biolink:Gene . OMIM:613859 a owl:Class ; rdfs:label "UMODL1" ; IAO:0000142 PMID:15194491 ; - oboInOwl:hasDbXref UMLS:C1421352 ; oboInOwl:hasExactSynonym "UMODL1", "uromodulin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89766 ; - skos:exactMatch HGNC_symbol:UMODL1 ; + skos:exactMatch UMLS:C1421352, + HGNC:12560, + HGNC_symbol:UMODL1 ; biolink:category biolink:Gene . OMIM:613864 a owl:Class ; rdfs:label "ZNF317" ; IAO:0000142 PMID:10997877, PMID:11688974 ; - oboInOwl:hasDbXref UMLS:C1422028 ; oboInOwl:hasExactSynonym "ZNF317", "kiaa1588", "zinc finger protein 317" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57693 ; - skos:exactMatch HGNC_symbol:ZNF317 ; + skos:exactMatch UMLS:C1422028, + HGNC:13507, + HGNC_symbol:ZNF317 ; biolink:category biolink:Gene . OMIM:613866 a owl:Class ; rdfs:label "PLAAT2" ; IAO:0000142 PMID:18163183, PMID:19615464 ; - oboInOwl:hasDbXref UMLS:C1425106 ; oboInOwl:hasExactSynonym "PLAAT2", "hras-like suppressor 2", "phospholipase a and acyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54979 ; - skos:exactMatch HGNC_symbol:PLAAT2 ; + skos:exactMatch UMLS:C1425106, + HGNC:17824, + HGNC_symbol:PLAAT2 ; biolink:category biolink:Gene . OMIM:613867 a owl:Class ; @@ -320336,7 +333523,6 @@ OMIM:613867 a owl:Class ; PMID:19615464, PMID:28077878, PMID:9771974 ; - oboInOwl:hasDbXref UMLS:C1425107 ; oboInOwl:hasExactSynonym "PLAAT3", "hras-like suppressor 3", "hrev107", @@ -320345,7 +333531,9 @@ OMIM:613867 a owl:Class ; "phospholipase a2, group 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11145 ; - skos:exactMatch HGNC_symbol:PLAAT3 ; + skos:exactMatch UMLS:C1425107, + HGNC:17825, + HGNC_symbol:PLAAT3 ; biolink:category biolink:Gene . OMIM:613868 a owl:Class ; @@ -320360,7 +333548,6 @@ OMIM:613868 a owl:Class ; PMID:9582331 ; RO:0002525 CHR:9606chr18q12.3 ; RO:0003303 OMIM:111000 ; - oboInOwl:hasDbXref UMLS:C1420098 ; oboInOwl:hasExactSynonym "SLC14A1", "solute carrier family 14 (urea transporter), member 1", "urea transporter, erythrocyte", @@ -320368,7 +333555,9 @@ OMIM:613868 a owl:Class ; "utb, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6563 ; - skos:exactMatch HGNC_symbol:SLC14A1 ; + skos:exactMatch UMLS:C1420098, + HGNC:10918, + HGNC_symbol:SLC14A1 ; biolink:category biolink:Gene . OMIM:613870 a owl:Class ; @@ -320378,9 +333567,9 @@ OMIM:613870 a owl:Class ; PMID:9449665, PMID:9649553, PMID:9915973 ; - oboInOwl:hasDbXref UMLS:C3151237 ; oboInOwl:hasExactSynonym "HCAD", "hirschsprung disease, cardiac defects, and autonomic dysfunction" ; + skos:exactMatch UMLS:C3151237 ; biolink:category biolink:Disease . OMIM:613871 a owl:Class ; @@ -320405,13 +333594,14 @@ OMIM:613871 a owl:Class ; PMID:9705236 ; RO:0002525 CHR:9606chr15q25.1 ; RO:0003303 OMIM:276700 ; - oboInOwl:hasDbXref UMLS:C1414525 ; oboInOwl:hasExactSynonym "FAH", "fumarylacetoacetase", "fumarylacetoacetate hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2184 ; - skos:exactMatch HGNC_symbol:FAH ; + skos:exactMatch UMLS:C1414525, + HGNC:3579, + HGNC_symbol:FAH ; biolink:category biolink:Gene . OMIM:613872 a owl:Class ; @@ -320454,12 +333644,13 @@ OMIM:613872 a owl:Class ; PMID:9399854 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:227600 ; - oboInOwl:hasDbXref UMLS:C1414497 ; oboInOwl:hasExactSynonym "F10", "coagulation factor 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2159 ; - skos:exactMatch HGNC_symbol:F10 ; + skos:exactMatch UMLS:C1414497, + HGNC:3528, + HGNC_symbol:F10 ; biolink:category biolink:Gene . OMIM:613875 a owl:Class ; @@ -320476,12 +333667,13 @@ OMIM:613879 a owl:Class ; PMID:7647472 ; RO:0002525 CHR:9606chr3q22.1 ; RO:0003303 OMIM:275120 ; - oboInOwl:hasDbXref UMLS:C1421143 ; oboInOwl:hasExactSynonym "TRH", "thyrotropin-releasing hormone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7200 ; - skos:exactMatch HGNC_symbol:TRH ; + skos:exactMatch UMLS:C1421143, + HGNC:12298, + HGNC_symbol:TRH ; biolink:category biolink:Gene . OMIM:613880 a owl:Class ; @@ -320489,33 +333681,34 @@ OMIM:613880 a owl:Class ; IAO:0000142 PMID:10231032, PMID:19666599, PMID:21252314 ; - oboInOwl:hasDbXref UMLS:C1428800 ; oboInOwl:hasExactSynonym "BAHD1", "bah domain-containing protein 1", "bromo-adjacent homology domain-containing protein 1", "kiaa0945" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22893 ; - skos:exactMatch HGNC_symbol:BAHD1 ; + skos:exactMatch UMLS:C1428800, + HGNC:29153, + HGNC_symbol:BAHD1 ; biolink:category biolink:Gene . OMIM:613881 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1hh" ; IAO:0000142 PMID:21353195, PMID:21898660 ; - oboInOwl:hasDbXref UMLS:C3151293 ; oboInOwl:hasExactSynonym "CMD1HH", "cardiomyopathy, dilated, 1hh" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C3151293 ; biolink:category biolink:Disease . OMIM:613882 a owl:Class ; rdfs:label "hypomagnesemia 6, renal" ; IAO:0000142 PMID:21397062 ; - oboInOwl:hasDbXref UMLS:C3151295 ; oboInOwl:hasExactSynonym "HOMG6", "hypomagnesemia 6, renal" ; rdfs:subClassOf OMIMPS:602014 ; + skos:exactMatch UMLS:C3151295 ; biolink:category biolink:Disease . OMIM:613883 a owl:Class ; @@ -320543,14 +333736,15 @@ OMIM:613883 a owl:Class ; PMID:9593744 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:110900 ; - oboInOwl:hasDbXref UMLS:C1416625 ; oboInOwl:hasExactSynonym "KEL", "kell blood group antigen", "kell blood group glycoprotein", "kell blood group metalloendopeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3792 ; - skos:exactMatch HGNC_symbol:KEL ; + skos:exactMatch UMLS:C1416625, + HGNC:6308, + HGNC_symbol:KEL ; biolink:category biolink:Gene . OMIM:613884 a owl:Class ; @@ -320566,45 +333760,47 @@ OMIM:613884 a owl:Class ; PMID:7129450, PMID:7287000 ; RO:0002525 CHR:9606chr13q14 ; - oboInOwl:hasDbXref UMLS:C3151302 ; oboInOwl:hasExactSynonym "chromosome 13q deletion syndrome", "chromosome 13q14 deletion syndrome" ; + skos:exactMatch UMLS:C3151302 ; biolink:category biolink:Disease . OMIM:613885 a owl:Class ; rdfs:label "meckel syndrome, iia 8" ; IAO:0000142 PMID:21462283 ; - oboInOwl:hasDbXref UMLS:C3836857 ; oboInOwl:hasExactSynonym "MKS8", "meckel syndrome, iia 8" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C3836857 ; biolink:category biolink:Disease . OMIM:613888 a owl:Class ; rdfs:label "RHOT1" ; IAO:0000142 PMID:12482879 ; - oboInOwl:hasDbXref UMLS:C1427382 ; oboInOwl:hasExactSynonym "RHOT1", "arht1", "mitochondrial rho 1", "ras homolog gene family, member t1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55288 ; - skos:exactMatch HGNC_symbol:RHOT1 ; + skos:exactMatch UMLS:C1427382, + HGNC:21168, + HGNC_symbol:RHOT1 ; biolink:category biolink:Gene . OMIM:613889 a owl:Class ; rdfs:label "RHOT2" ; IAO:0000142 PMID:12482879, PMID:15218247 ; - oboInOwl:hasDbXref UMLS:C1427383 ; oboInOwl:hasExactSynonym "RHOT2", "arht2", "mitochondrial rho 2", "ras homolog gene family, member t2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89941 ; - skos:exactMatch HGNC_symbol:RHOT2 ; + skos:exactMatch UMLS:C1427383, + HGNC:21169, + HGNC_symbol:RHOT2 ; biolink:category biolink:Gene . OMIM:613890 a owl:Class ; @@ -320631,14 +333827,15 @@ OMIM:613890 a owl:Class ; PMID:8943802 ; RO:0002525 CHR:9606chr1p12 ; RO:0003303 OMIM:201810 ; - oboInOwl:hasDbXref UMLS:C1415743 ; oboInOwl:hasExactSynonym "3-beta-hsd, adrenal and gonadal iia", "3-beta-hydroxysteroid dehydrogenase 2", "3-beta-hydroxysteroid dehydrogenase/delta-isomerase, iia 2", "HSD3B2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3284 ; - skos:exactMatch HGNC_symbol:HSD3B2 ; + skos:exactMatch UMLS:C1415743, + HGNC:5218, + HGNC_symbol:HSD3B2 ; biolink:category biolink:Gene . OMIM:613891 a owl:Class ; @@ -320652,27 +333849,29 @@ OMIM:613891 a owl:Class ; PMID:9042911 ; RO:0002525 CHR:9606chr3q21.2 ; RO:0003303 OMIM:258900 ; - oboInOwl:hasDbXref UMLS:C1421354 ; oboInOwl:hasExactSynonym "UMPS", "orotate phosphoribosyltransferase", "orotidylic decarboxylase", "uridine monophosphate synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7372 ; - skos:exactMatch HGNC_symbol:UMPS ; + skos:exactMatch UMLS:C1421354, + HGNC:12563, + HGNC_symbol:UMPS ; biolink:category biolink:Gene . OMIM:613892 a owl:Class ; rdfs:label "DPY19L1" ; IAO:0000142 PMID:10048485, PMID:16526957 ; - oboInOwl:hasDbXref UMLS:C1824972 ; oboInOwl:hasExactSynonym "DPY19L1", "dpy19-like 1", "kiaa0877" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23333 ; - skos:exactMatch HGNC_symbol:DPY19L1 ; + skos:exactMatch UMLS:C1824972, + HGNC:22205, + HGNC_symbol:DPY19L1 ; biolink:category biolink:Gene . OMIM:613893 a owl:Class ; @@ -320683,34 +333882,37 @@ OMIM:613893 a owl:Class ; PMID:21397064 ; RO:0002525 CHR:9606chr12q14.2 ; RO:0003303 OMIM:613958 ; - oboInOwl:hasDbXref UMLS:C1824975 ; oboInOwl:hasExactSynonym "DPY19L2", "dpy19-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283417 ; - skos:exactMatch HGNC_symbol:DPY19L2 ; + skos:exactMatch UMLS:C1824975, + HGNC:19414, + HGNC_symbol:DPY19L2 ; biolink:category biolink:Gene . OMIM:613894 a owl:Class ; rdfs:label "DPY19L3" ; IAO:0000142 PMID:16526957 ; - oboInOwl:hasDbXref UMLS:C1824980 ; oboInOwl:hasExactSynonym "DPY19L3", "dpy19-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147991 ; - skos:exactMatch HGNC_symbol:DPY19L3 ; + skos:exactMatch UMLS:C1824980, + HGNC:27120, + HGNC_symbol:DPY19L3 ; biolink:category biolink:Gene . OMIM:613895 a owl:Class ; rdfs:label "DPY19L4" ; IAO:0000142 PMID:16526957 ; - oboInOwl:hasDbXref UMLS:C1824981 ; oboInOwl:hasExactSynonym "DPY19L4", "dpy19-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286148 ; - skos:exactMatch HGNC_symbol:DPY19L4 ; + skos:exactMatch UMLS:C1824981, + HGNC:27829, + HGNC_symbol:DPY19L4 ; biolink:category biolink:Gene . OMIM:613896 a owl:Class ; @@ -320732,8 +333934,6 @@ OMIM:613896 a owl:Class ; PMID:6295140 ; RO:0002525 CHR:9606chr7q33 ; RO:0003303 OMIM:222800 ; - oboInOwl:hasDbXref UMLS:C1291620, - UMLS:C1412816 ; oboInOwl:hasExactSynonym "2,3-bisphosphoglycerate phosphatase", "2,3-bpg phosphatase", "2,3-diphosphoglycerate mutase", @@ -320741,7 +333941,10 @@ OMIM:613896 a owl:Class ; "bisphosphoglycerate mutase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:669 ; - skos:exactMatch HGNC_symbol:BPGM ; + skos:exactMatch UMLS:C1291620, + UMLS:C1412816, + HGNC:1093, + HGNC_symbol:BPGM ; biolink:category biolink:Gene . OMIM:613897 a owl:Class ; @@ -320753,12 +333956,13 @@ OMIM:613897 a owl:Class ; PMID:9382107 ; RO:0002525 CHR:9606chr11p14.3 ; RO:0003303 OMIM:603467 ; - oboInOwl:hasDbXref UMLS:C1414532 ; oboInOwl:hasExactSynonym "FANCF", "fancf gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2188 ; - skos:exactMatch HGNC_symbol:FANCF ; + skos:exactMatch UMLS:C1414532, + HGNC:3587, + HGNC_symbol:FANCF ; biolink:category biolink:Gene . OMIM:613898 a owl:Class ; @@ -320770,14 +333974,15 @@ OMIM:613898 a owl:Class ; PMID:9463337 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:246450 ; - oboInOwl:hasDbXref UMLS:C1415614 ; oboInOwl:hasExactSynonym "3-hydroxy-3-methylglutaryl-coa lyase", "HMGCL", "hl", "hmg-coa lyase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3155 ; - skos:exactMatch HGNC_symbol:HMGCL ; + skos:exactMatch UMLS:C1415614, + HGNC:5005, + HGNC_symbol:HMGCL ; biolink:category biolink:Gene . OMIM:613899 a owl:Class ; @@ -320825,13 +334030,14 @@ OMIM:613899 a owl:Class ; PMID:9590173 ; RO:0002525 CHR:9606chr9q22.32 ; RO:0003303 OMIM:227645 ; - oboInOwl:hasDbXref UMLS:C1414529 ; oboInOwl:hasExactSynonym "FANCC", "fac", "fancc gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2176 ; - skos:exactMatch HGNC_symbol:FANCC ; + skos:exactMatch UMLS:C1414529, + HGNC:3584, + HGNC_symbol:FANCC ; biolink:category biolink:Gene . OMIM:613900 a owl:Class ; @@ -320844,14 +334050,15 @@ OMIM:613900 a owl:Class ; PMID:25253745 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:613908 ; - oboInOwl:hasDbXref UMLS:C1539956 ; oboInOwl:hasExactSynonym "TGM6", "tg6", "transglutaminase 6", "transglutaminase y" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343641 ; - skos:exactMatch HGNC_symbol:TGM6 ; + skos:exactMatch UMLS:C1539956, + HGNC:16255, + HGNC_symbol:TGM6 ; biolink:category biolink:Gene . OMIM:613901 a owl:Class ; @@ -320861,14 +334068,15 @@ OMIM:613901 a owl:Class ; PMID:21311021, PMID:24608264, PMID:24870230 ; - oboInOwl:hasDbXref UMLS:C1824509 ; oboInOwl:hasExactSynonym "RNA 2-prime,3-prime cyclic phosphate and 5-prime-oh ligase", "RTCB", "chromosome 22 open reading frame 28", "hematopoietic stem/progenitor cell-expressed gene 117" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51493 ; - skos:exactMatch HGNC_symbol:RTCB ; + skos:exactMatch UMLS:C1824509, + HGNC:26935, + HGNC_symbol:RTCB ; biolink:category biolink:Gene . OMIM:613902 a owl:Class ; @@ -320876,7 +334084,6 @@ OMIM:613902 a owl:Class ; IAO:0000142 PMID:14983057, PMID:22886885, PMID:25127144 ; - oboInOwl:hasDbXref UMLS:C1428140 ; oboInOwl:hasExactSynonym "ZNF503", "nlz2", "noca-like zinc finger protein 1", @@ -320884,55 +334091,61 @@ OMIM:613902 a owl:Class ; "zinc finger protein 503" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84858 ; - skos:exactMatch HGNC_symbol:ZNF503 ; + skos:exactMatch UMLS:C1428140, + HGNC:23589, + HGNC_symbol:ZNF503 ; biolink:category biolink:Gene . OMIM:613903 a owl:Class ; rdfs:label "ZNF540" ; IAO:0000142 PMID:16343441, PMID:16815308 ; - oboInOwl:hasDbXref UMLS:C1428473 ; oboInOwl:hasExactSynonym "ZNF540", "zinc finger protein 540" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163255 ; - skos:exactMatch HGNC_symbol:ZNF540 ; + skos:exactMatch UMLS:C1428473, + HGNC:25331, + HGNC_symbol:ZNF540 ; biolink:category biolink:Gene . OMIM:613904 a owl:Class ; rdfs:label "ZNF569" ; IAO:0000142 PMID:16793018 ; - oboInOwl:hasDbXref UMLS:C1428407 ; oboInOwl:hasExactSynonym "ZNF569", "zinc finger protein 569" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148266 ; - skos:exactMatch HGNC_symbol:ZNF569 ; + skos:exactMatch UMLS:C1428407, + HGNC:24737, + HGNC_symbol:ZNF569 ; biolink:category biolink:Gene . OMIM:613905 a owl:Class ; rdfs:label "ZNF606" ; IAO:0000142 PMID:11347906, PMID:15964554 ; - oboInOwl:hasDbXref UMLS:C1428528 ; oboInOwl:hasExactSynonym "ZNF606", "kiaa1852", "zinc finger protein 606", "znf328" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80095 ; - skos:exactMatch HGNC_symbol:ZNF606 ; + skos:exactMatch UMLS:C1428528, + HGNC:25879, + HGNC_symbol:ZNF606 ; biolink:category biolink:Gene . OMIM:613906 a owl:Class ; rdfs:label "ZNF641" ; IAO:0000142 PMID:16343441 ; - oboInOwl:hasDbXref UMLS:C1823984 ; oboInOwl:hasExactSynonym "ZNF641", "zinc finger protein 641" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121274 ; - skos:exactMatch HGNC_symbol:ZNF641 ; + skos:exactMatch UMLS:C1823984, + HGNC:31834, + HGNC_symbol:ZNF641 ; biolink:category biolink:Gene . OMIM:613907 a owl:Class ; @@ -320940,47 +334153,50 @@ OMIM:613907 a owl:Class ; IAO:0000142 PMID:10231032, PMID:16966434, PMID:18456661 ; - oboInOwl:hasDbXref UMLS:C1538220 ; oboInOwl:hasExactSynonym "ZNF652", "kiaa0924", "zinc finger protein 652" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22834 ; - skos:exactMatch HGNC_symbol:ZNF652 ; + skos:exactMatch UMLS:C1538220, + HGNC:29147, + HGNC_symbol:ZNF652 ; biolink:category biolink:Gene . OMIM:613909 a owl:Class ; rdfs:label "spinocerebellar ataxia 32" ; RO:0002525 CHR:9606chr7q32-q33 ; - oboInOwl:hasDbXref UMLS:C3151343 ; oboInOwl:hasExactSynonym "SCA32", "spinocerebellar ataxia 32" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C3151343 ; biolink:category biolink:Disease . OMIM:613910 a owl:Class ; rdfs:label "ZNF480" ; IAO:0000142 PMID:15219843 ; - oboInOwl:hasDbXref UMLS:C1538189 ; oboInOwl:hasExactSynonym "ZNF480", "zinc finger protein 480" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147657 ; - skos:exactMatch HGNC_symbol:ZNF480 ; + skos:exactMatch UMLS:C1538189, + HGNC:23305, + HGNC_symbol:ZNF480 ; biolink:category biolink:Gene . OMIM:613911 a owl:Class ; rdfs:label "ZNF496" ; IAO:0000142 PMID:15169884, PMID:17521633 ; - oboInOwl:hasDbXref UMLS:C1428215 ; oboInOwl:hasExactSynonym "ZNF496", "nsd1-interacting zinc finger protein 1", "zfp496", "zinc finger protein 496" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84838 ; - skos:exactMatch HGNC_symbol:ZNF496 ; + skos:exactMatch UMLS:C1428215, + HGNC:23713, + HGNC_symbol:ZNF496 ; biolink:category biolink:Gene . OMIM:613913 a owl:Class ; @@ -320995,23 +334211,24 @@ OMIM:613913 a owl:Class ; PMID:2385743, PMID:4686987, PMID:6986570 ; - oboInOwl:hasDbXref UMLS:C3151347 ; oboInOwl:hasExactSynonym "APLDC3", "lipodystrophy, partial, acquired, associated with c3 nephritic factor", "lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis" ; + skos:exactMatch UMLS:C3151347 ; biolink:category biolink:Disease . OMIM:613914 a owl:Class ; rdfs:label "ZNF746" ; IAO:0000142 PMID:21376232, PMID:31237944 ; - oboInOwl:hasDbXref UMLS:C1824032 ; oboInOwl:hasExactSynonym "ZNF746", "parkin-interacting substrate", "zinc finger protein 746" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155061 ; - skos:exactMatch HGNC_symbol:ZNF746 ; + skos:exactMatch UMLS:C1824032, + HGNC:21948, + HGNC_symbol:ZNF746 ; biolink:category biolink:Gene . OMIM:613915 a owl:Class ; @@ -321020,46 +334237,49 @@ OMIM:613915 a owl:Class ; PMID:25055871 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:616248 ; - oboInOwl:hasDbXref UMLS:C1823908 ; oboInOwl:hasExactSynonym "zinc finger- and btb domain-containing protein 42: zbtb42", "znf925" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100128927 ; - skos:exactMatch HGNC_symbol:ZBTB42 ; + skos:exactMatch UMLS:C1823908, + HGNC:32550, + HGNC_symbol:ZBTB42 ; biolink:category biolink:Gene . OMIM:613916 a owl:Class ; rdfs:label "deafness, autosomal recessive 89" ; IAO:0000142 PMID:21181198, PMID:23768514 ; - oboInOwl:hasDbXref UMLS:C3151351 ; oboInOwl:hasExactSynonym "DFNB89", "deafness, autosomal recessive 89" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3151351 ; biolink:category biolink:Disease . OMIM:613917 a owl:Class ; rdfs:label "MUC22" ; IAO:0000142 PMID:20981447 ; - oboInOwl:hasDbXref UMLS:C3151352 ; oboInOwl:hasExactSynonym "MUC22", "mucin 22", "panbronchiolitis-related mucin-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507679 ; - skos:exactMatch HGNC_symbol:MUC22 ; + skos:exactMatch UMLS:C3151352, + HGNC:39755, + HGNC_symbol:MUC22 ; biolink:category biolink:Gene . OMIM:613918 a owl:Class ; rdfs:label "HCG22" ; IAO:0000142 PMID:20981447 ; - oboInOwl:hasDbXref UMLS:C1539644 ; oboInOwl:hasExactSynonym "HCG22", "hla complex group 22", "panbronchiolitis-related mucin-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285834 ; - skos:exactMatch HGNC_symbol:HCG22 ; + skos:exactMatch UMLS:C1539644, + HGNC:27780, + HGNC_symbol:HCG22 ; biolink:category biolink:Gene . OMIM:613919 a owl:Class ; @@ -321068,12 +334288,13 @@ OMIM:613919 a owl:Class ; PMID:23355886, PMID:25283277, PMID:30475797 ; - oboInOwl:hasDbXref UMLS:C1427410 ; oboInOwl:hasExactSynonym "KIF6", "kinesin family member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221458 ; - skos:exactMatch HGNC_symbol:KIF6 ; + skos:exactMatch UMLS:C1427410, + HGNC:21202, + HGNC_symbol:KIF6 ; biolink:category biolink:Gene . OMIM:613920 a owl:Class ; @@ -321083,51 +334304,55 @@ OMIM:613920 a owl:Class ; PMID:21457908 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:616500 ; - oboInOwl:hasDbXref UMLS:C2240258, - UMLS:C4225154 ; oboInOwl:hasExactSynonym "COA5", "chromosome 2 open reading frame 64", "cytochrome c oxidase assembly factor 5", "pet191, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:493753 ; - skos:exactMatch HGNC_symbol:COA5 ; + skos:exactMatch UMLS:C2240258, + UMLS:C4225154, + HGNC:33848, + HGNC_symbol:COA5 ; biolink:category biolink:Gene . OMIM:613921 a owl:Class ; rdfs:label "LIPJ" ; IAO:0000142 PMID:17562024 ; - oboInOwl:hasDbXref UMLS:C1537576 ; oboInOwl:hasExactSynonym "LIPJ", "lipase family, member j", "lipase-like abhydrolase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142910 ; - skos:exactMatch HGNC_symbol:LIPJ ; + skos:exactMatch UMLS:C1537576, + HGNC:21773, + HGNC_symbol:LIPJ ; biolink:category biolink:Gene . OMIM:613922 a owl:Class ; rdfs:label "LIPK" ; IAO:0000142 PMID:17562024 ; - oboInOwl:hasDbXref UMLS:C1537577 ; oboInOwl:hasExactSynonym "LIPK", "lipase family, member k", "lipase-like abhydrolase domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643414 ; - skos:exactMatch HGNC_symbol:LIPK ; + skos:exactMatch UMLS:C1537577, + HGNC:23444, + HGNC_symbol:LIPK ; biolink:category biolink:Gene . OMIM:613923 a owl:Class ; rdfs:label "LIPM" ; IAO:0000142 PMID:17562024 ; - oboInOwl:hasDbXref UMLS:C1537578 ; oboInOwl:hasExactSynonym "LIPM", "lipase family, member m", "lipase-like abhydrolase domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340654 ; - skos:exactMatch HGNC_symbol:LIPM ; + skos:exactMatch UMLS:C1537578, + HGNC:23455, + HGNC_symbol:LIPM ; biolink:category biolink:Gene . OMIM:613924 a owl:Class ; @@ -321136,23 +334361,24 @@ OMIM:613924 a owl:Class ; PMID:21439540 ; RO:0002525 CHR:9606chr10q23.31 ; RO:0003303 OMIM:613943 ; - oboInOwl:hasDbXref UMLS:C1537579 ; oboInOwl:hasExactSynonym "LIPN", "lipase family, member n", "lipase-like abhydrolase domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643418 ; - skos:exactMatch HGNC_symbol:LIPN ; + skos:exactMatch UMLS:C1537579, + HGNC:23452, + HGNC_symbol:LIPN ; biolink:category biolink:Gene . OMIM:613925 a owl:Class ; rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 2a" ; IAO:0000142 PMID:20517947, PMID:21419380 ; - oboInOwl:hasDbXref UMLS:C3151355 ; oboInOwl:hasExactSynonym "MLC2A", "megalencephalic leukoencephalopathy with subcortical cysts 2a" ; rdfs:subClassOf OMIMPS:604004 ; + skos:exactMatch UMLS:C3151355 ; biolink:category biolink:Disease . OMIM:613927 a owl:Class ; @@ -321176,38 +334402,41 @@ OMIM:613927 a owl:Class ; PMID:993342 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:615489 ; - oboInOwl:hasDbXref UMLS:C1412938 ; oboInOwl:hasExactSynonym "C2", "complement component 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:717 ; - skos:exactMatch HGNC_symbol:C2 ; + skos:exactMatch UMLS:C1412938, + HGNC:1248, + HGNC_symbol:C2 ; biolink:category biolink:Gene . OMIM:613928 a owl:Class ; rdfs:label "MUCL3" ; IAO:0000142 PMID:12185533 ; - oboInOwl:hasDbXref UMLS:C1427687 ; oboInOwl:hasExactSynonym "MUCL3", "chromosome 6 open reading frame 37", "diffuse panbronchiolitis critical region gene 1", "mucin-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135656 ; - skos:exactMatch HGNC_symbol:MUCL3 ; + skos:exactMatch UMLS:C1427687, + HGNC:21666, + HGNC_symbol:MUCL3 ; biolink:category biolink:Gene . OMIM:613929 a owl:Class ; rdfs:label "SPINK4" ; IAO:0000142 PMID:12678500, PMID:1400298 ; - oboInOwl:hasDbXref UMLS:C1424462 ; oboInOwl:hasExactSynonym "SPINK4", "pec60", "serine protease inhibitor, kazal-type, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27290 ; - skos:exactMatch HGNC_symbol:SPINK4 ; + skos:exactMatch UMLS:C1424462, + HGNC:16646, + HGNC_symbol:SPINK4 ; biolink:category biolink:Gene . OMIM:613931 a owl:Class ; @@ -321220,12 +334449,13 @@ OMIM:613931 a owl:Class ; PMID:28092684 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:614969 ; - oboInOwl:hasDbXref UMLS:C1423858 ; oboInOwl:hasExactSynonym "TOE1", "target of egr1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114034 ; - skos:exactMatch HGNC_symbol:TOE1 ; + skos:exactMatch UMLS:C1423858, + HGNC:15954, + HGNC_symbol:TOE1 ; biolink:category biolink:Gene . OMIM:613932 a owl:Class ; @@ -321240,73 +334470,79 @@ OMIM:613932 a owl:Class ; PMID:30010057 ; RO:0002525 CHR:9606chr1p31.1 ; RO:0003303 OMIM:616117 ; - oboInOwl:hasDbXref UMLS:C1426311 ; oboInOwl:hasExactSynonym "TNNI3K", "cardiac troponin i-interacting kinase", "tnni3-interacting kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51086 ; - skos:exactMatch HGNC_symbol:TNNI3K ; + skos:exactMatch UMLS:C1426311, + HGNC:19661, + HGNC_symbol:TNNI3K ; biolink:category biolink:Gene . OMIM:613934 a owl:Class ; rdfs:label "TMEM25" ; IAO:0000142 PMID:15254712, PMID:31424425 ; - oboInOwl:hasDbXref UMLS:C1539994 ; oboInOwl:hasExactSynonym "TMEM25", "transmembrane protein 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84866 ; - skos:exactMatch HGNC_symbol:TMEM25 ; + skos:exactMatch UMLS:C1539994, + HGNC:25890, + HGNC_symbol:TMEM25 ; biolink:category biolink:Gene . OMIM:613935 a owl:Class ; rdfs:label "TMEM74" ; IAO:0000142 PMID:18294959 ; - oboInOwl:hasDbXref UMLS:C1823336 ; oboInOwl:hasExactSynonym "TMEM74", "transmembrane protein 74" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157753 ; - skos:exactMatch HGNC_symbol:TMEM74 ; + skos:exactMatch UMLS:C1823336, + HGNC:26409, + HGNC_symbol:TMEM74 ; biolink:category biolink:Gene . OMIM:613936 a owl:Class ; rdfs:label "TMEM102" ; IAO:0000142 PMID:17828305 ; - oboInOwl:hasDbXref UMLS:C1823362 ; oboInOwl:hasExactSynonym "TMEM102", "common beta chain-associated protein", "transmembrane protein 102" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284114 ; - skos:exactMatch HGNC_symbol:TMEM102 ; + skos:exactMatch UMLS:C1823362, + HGNC:26722, + HGNC_symbol:TMEM102 ; biolink:category biolink:Gene . OMIM:613937 a owl:Class ; rdfs:label "TMEM184C" ; IAO:0000142 PMID:11483580, PMID:17072649 ; - oboInOwl:hasDbXref UMLS:C1540005 ; oboInOwl:hasExactSynonym "TMEM184C", "transmembrane protein 184c", "transmembrane protein 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55751 ; - skos:exactMatch HGNC_symbol:TMEM184C ; + skos:exactMatch UMLS:C1540005, + HGNC:25587, + HGNC_symbol:TMEM184C ; biolink:category biolink:Gene . OMIM:613939 a owl:Class ; rdfs:label "SPATA20" ; IAO:0000142 PMID:15223837 ; - oboInOwl:hasDbXref UMLS:C1823091 ; oboInOwl:hasExactSynonym "SPATA20", "sperm-specific protein 411", "spermatogenesis-associated protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64847 ; - skos:exactMatch HGNC_symbol:SPATA20 ; + skos:exactMatch UMLS:C1823091, + HGNC:26125, + HGNC_symbol:SPATA20 ; biolink:category biolink:Gene . OMIM:613940 a owl:Class ; @@ -321315,25 +334551,27 @@ OMIM:613940 a owl:Class ; PMID:26299366 ; RO:0002525 CHR:9606chr4q28.1 ; RO:0003303 OMIM:616577 ; - oboInOwl:hasDbXref UMLS:C1425325 ; oboInOwl:hasExactSynonym "SPATA5", "spermatogenesis-associated factor", "spermatogenesis-associated protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166378 ; - skos:exactMatch HGNC_symbol:SPATA5 ; + skos:exactMatch UMLS:C1425325, + HGNC:18119, + HGNC_symbol:SPATA5 ; biolink:category biolink:Gene . OMIM:613941 a owl:Class ; rdfs:label "SPINT3" ; IAO:0000142 PMID:11549316 ; - oboInOwl:hasDbXref UMLS:C1420363 ; oboInOwl:hasExactSynonym "SPINT3", "serine peptidase inhibitor, kunitz-type, 3", "serine protease inhibitor, kunitz-type, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10816 ; - skos:exactMatch HGNC_symbol:SPINT3 ; + skos:exactMatch UMLS:C1420363, + HGNC:11248, + HGNC_symbol:SPINT3 ; biolink:category biolink:Gene . OMIM:613942 a owl:Class ; @@ -321344,7 +334582,6 @@ OMIM:613942 a owl:Class ; PMID:27640305 ; RO:0002525 CHR:9606chr20q11.21 ; RO:0003303 OMIM:617187 ; - oboInOwl:hasDbXref UMLS:C1424125 ; oboInOwl:hasExactSynonym "SUN5", "sad1 and unc84 domain-containing protein 5", "spag4-like protein", @@ -321353,71 +334590,78 @@ OMIM:613942 a owl:Class ; "testis- and spermatogenesis-related gene 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140732 ; - skos:exactMatch HGNC_symbol:SUN5 ; + skos:exactMatch UMLS:C1424125, + HGNC:16252, + HGNC_symbol:SUN5 ; biolink:category biolink:Gene . OMIM:613945 a owl:Class ; rdfs:label "DNAJC5B" ; IAO:0000142 PMID:15091340, PMID:17034881 ; - oboInOwl:hasDbXref UMLS:C1428350 ; oboInOwl:hasExactSynonym "DNAJC5B", "csp-beta", "cysteine string protein, beta", "dnaj/hsp40 homolog, subfamily c, member 5, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85479 ; - skos:exactMatch HGNC_symbol:DNAJC5B ; + skos:exactMatch UMLS:C1428350, + HGNC:24138, + HGNC_symbol:DNAJC5B ; biolink:category biolink:Gene . OMIM:613946 a owl:Class ; rdfs:label "DNAJC5G" ; IAO:0000142 PMID:15091340 ; - oboInOwl:hasDbXref UMLS:C1428417 ; oboInOwl:hasExactSynonym "DNAJC5G", "csp-gamma", "cysteine string protein, gamma", "dnaj/hsp40 homolog, subfamily c, member 5, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285126 ; - skos:exactMatch HGNC_symbol:DNAJC5G ; + skos:exactMatch UMLS:C1428417, + HGNC:24844, + HGNC_symbol:DNAJC5G ; biolink:category biolink:Gene . OMIM:613947 a owl:Class ; rdfs:label "SPATA6" ; IAO:0000142 PMID:11735130 ; - oboInOwl:hasDbXref UMLS:C1425438 ; oboInOwl:hasExactSynonym "SPATA6", "hash, rat, homolog of", "spermatogenesis-associated protein 6", "spermatogenesis-related factor 1, rat, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54558 ; - skos:exactMatch HGNC_symbol:SPATA6 ; + skos:exactMatch UMLS:C1425438, + HGNC:18309, + HGNC_symbol:SPATA6 ; biolink:category biolink:Gene . OMIM:613948 a owl:Class ; rdfs:label "SPATA8" ; IAO:0000142 PMID:16809841 ; - oboInOwl:hasDbXref UMLS:C1539810 ; oboInOwl:hasExactSynonym "SPATA8", "spermatogenesis-associated protein 8", "spermatogenesis-related gene 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145946 ; - skos:exactMatch HGNC_symbol:SPATA8 ; + skos:exactMatch UMLS:C1539810, + HGNC:28676, + HGNC_symbol:SPATA8 ; biolink:category biolink:Gene . OMIM:613952 a owl:Class ; rdfs:label "TENT5C" ; IAO:0000142 PMID:21478870 ; - oboInOwl:hasDbXref UMLS:C1539445 ; oboInOwl:hasExactSynonym "TENT5C", "family with sequence similarity 46, member c", "terminal nucleotidyltransferase 5c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54855 ; - skos:exactMatch HGNC_symbol:TENT5C ; + skos:exactMatch UMLS:C1539445, + HGNC:24712, + HGNC_symbol:TENT5C ; biolink:category biolink:Gene . OMIM:613954 a owl:Class ; @@ -321429,124 +334673,132 @@ OMIM:613954 a owl:Class ; PMID:30103325, PMID:31368485, PMID:33004675 ; - oboInOwl:hasDbXref UMLS:C5436279, - ORPHA:275872, - ORPHA:803 ; oboInOwl:hasExactSynonym "FTDALS6", "amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, formerly", "frontotemporal dementia and/or amyotrophic lateral sclerosis 6" ; rdfs:subClassOf OMIMPS:105400, OMIMPS:105550 ; + skos:exactMatch UMLS:C5436279, + ORPHA:275872, + ORPHA:803 ; biolink:category biolink:Disease . OMIM:613959 a owl:Class ; rdfs:label "schizophrenia 16" ; IAO:0000142 PMID:21346763 ; RO:0002525 CHR:9606chr7q36.3 ; - oboInOwl:hasDbXref UMLS:C3151408 ; oboInOwl:hasExactSynonym "SCZD16", "chromosome 7q36.3 duplication syndrome, 362-kb", "schizophrenia 16", "schizophrenia susceptibility locus, chromosome 7q36.3-related" ; + skos:exactMatch UMLS:C3151408 ; biolink:category biolink:Disease . OMIM:613961 a owl:Class ; rdfs:label "TAS2R19" ; IAO:0000142 PMID:15496549 ; - oboInOwl:hasDbXref UMLS:C1426014 ; oboInOwl:hasExactSynonym "TAS2R19", "t2r19", "t2r48", "taste receptor, iia 2, member 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259294 ; - skos:exactMatch HGNC_symbol:TAS2R19 ; + skos:exactMatch UMLS:C1426014, + HGNC:19108, + HGNC_symbol:TAS2R19 ; biolink:category biolink:Gene . OMIM:613962 a owl:Class ; rdfs:label "TAS2R20" ; IAO:0000142 PMID:12584440 ; - oboInOwl:hasDbXref UMLS:C1426015 ; oboInOwl:hasExactSynonym "TAS2R20", "t2r56", "taste receptor, iia 2, member 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259295 ; - skos:exactMatch HGNC_symbol:TAS2R20 ; + skos:exactMatch UMLS:C1426015, + HGNC:19109, + HGNC_symbol:TAS2R20 ; biolink:category biolink:Gene . OMIM:613963 a owl:Class ; rdfs:label "TAS2R30" ; IAO:0000142 PMID:15496549 ; - oboInOwl:hasDbXref UMLS:C1426018 ; oboInOwl:hasExactSynonym "TAS2R30", "t2r30", "t2r47", "taste receptor, iia 2, member 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259293 ; - skos:exactMatch HGNC_symbol:TAS2R30 ; + skos:exactMatch UMLS:C1426018, + HGNC:19112, + HGNC_symbol:TAS2R30 ; biolink:category biolink:Gene . OMIM:613964 a owl:Class ; rdfs:label "TAS2R40" ; IAO:0000142 PMID:15496549 ; - oboInOwl:hasDbXref UMLS:C1425855 ; oboInOwl:hasExactSynonym "TAS2R40", "t2r40", "taste receptor, iia 2, member 40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259286 ; - skos:exactMatch HGNC_symbol:TAS2R40 ; + skos:exactMatch UMLS:C1425855, + HGNC:18885, + HGNC_symbol:TAS2R40 ; biolink:category biolink:Gene . OMIM:613965 a owl:Class ; rdfs:label "TAS2R41" ; IAO:0000142 PMID:12584440 ; - oboInOwl:hasDbXref UMLS:C1425853 ; oboInOwl:hasExactSynonym "TAS2R41", "t2r59", "taste receptor, iia 2, member 41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259287 ; - skos:exactMatch HGNC_symbol:TAS2R41 ; + skos:exactMatch UMLS:C1425853, + HGNC:18883, + HGNC_symbol:TAS2R41 ; biolink:category biolink:Gene . OMIM:613966 a owl:Class ; rdfs:label "TAS2R42" ; IAO:0000142 PMID:15496549 ; - oboInOwl:hasDbXref UMLS:C1425857 ; oboInOwl:hasExactSynonym "TAS2R42", "t2r42", "t2r55", "taste receptor, iia 2, member 42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353164 ; - skos:exactMatch HGNC_symbol:TAS2R42 ; + skos:exactMatch UMLS:C1425857, + HGNC:18888, + HGNC_symbol:TAS2R42 ; biolink:category biolink:Gene . OMIM:613967 a owl:Class ; rdfs:label "TAS2R45" ; IAO:0000142 PMID:15496549 ; - oboInOwl:hasDbXref UMLS:C1425846 ; oboInOwl:hasExactSynonym "TAS2R45", "t2r45", "taste receptor, iia 2, member 45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259291 ; - skos:exactMatch HGNC_symbol:TAS2R45 ; + skos:exactMatch UMLS:C1425846, + HGNC:18876, + HGNC_symbol:TAS2R45 ; biolink:category biolink:Gene . OMIM:613968 a owl:Class ; rdfs:label "TAS2R60" ; IAO:0000142 PMID:12584440 ; - oboInOwl:hasDbXref UMLS:C1427048 ; oboInOwl:hasExactSynonym "TAS2R60", "t2r60", "taste receptor, iia 2, member 60" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338398 ; - skos:exactMatch HGNC_symbol:TAS2R60 ; + skos:exactMatch UMLS:C1427048, + HGNC:20639, + HGNC_symbol:TAS2R60 ; biolink:category biolink:Gene . OMIM:613971 a owl:Class ; @@ -321574,40 +334826,43 @@ OMIM:613973 a owl:Class ; PMID:29074761, PMID:29625897, PMID:29976794 ; - oboInOwl:hasDbXref UMLS:C3147783 ; oboInOwl:hasExactSynonym "CGAS", "chromosome 6 open reading frame 150", "cyclic gmp-amp synthase", "mab21 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115004 ; - skos:exactMatch HGNC_symbol:CGAS ; + skos:exactMatch UMLS:C3147783, + HGNC:21367, + HGNC_symbol:CGAS ; biolink:category biolink:Gene . OMIM:613974 a owl:Class ; rdfs:label "DDX60" ; IAO:0000142 PMID:21478870, PMID:21791617 ; - oboInOwl:hasDbXref UMLS:C2239342 ; oboInOwl:hasExactSynonym "DDX60", "dead-box polypeptide 60", "dexd/h-box helicase 60" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55601 ; - skos:exactMatch HGNC_symbol:DDX60 ; + skos:exactMatch UMLS:C2239342, + HGNC:25942, + HGNC_symbol:DDX60 ; biolink:category biolink:Gene . OMIM:613975 a owl:Class ; rdfs:label "IFI44L" ; IAO:0000142 PMID:21478870, PMID:25344690 ; - oboInOwl:hasDbXref UMLS:C1537398 ; oboInOwl:hasExactSynonym "IFI44L", "ifi44-like", "interferon-induced protein 44-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10964 ; - skos:exactMatch HGNC_symbol:IFI44L ; + skos:exactMatch UMLS:C1537398, + HGNC:17817, + HGNC_symbol:IFI44L ; biolink:category biolink:Gene . OMIM:613976 a owl:Class ; @@ -321620,12 +334875,13 @@ OMIM:613976 a owl:Class ; PMID:9382107 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:600901 ; - oboInOwl:hasDbXref UMLS:C1414531 ; oboInOwl:hasExactSynonym "FANCE", "fance gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2178 ; - skos:exactMatch HGNC_symbol:FANCE ; + skos:exactMatch UMLS:C1414531, + HGNC:3586, + HGNC_symbol:FANCE ; biolink:category biolink:Gene . OMIM:613977 a owl:Class ; @@ -321639,9 +334895,9 @@ OMIM:613977 a owl:Class ; PMID:6158500, PMID:7741137, PMID:8811323 ; - oboInOwl:hasDbXref UMLS:C3151421 ; oboInOwl:hasExactSynonym "TNCY", "cyanosis, transient neonatal" ; + skos:exactMatch UMLS:C3151421 ; biolink:category biolink:Disease . OMIM:613978 a owl:Class ; @@ -321659,13 +334915,13 @@ OMIM:613978 a owl:Class ; PMID:5792424, PMID:5923604, PMID:6253786 ; - oboInOwl:hasDbXref UMLS:C3161174, - UMLS:C3279561 ; oboInOwl:hasExactSynonym "HBH", "alpha-thalassemia, hemoglobin h iia", "hemoglobin h disease", "hemoglobin h disease, deletional", "hemoglobin h disease, nondeletional" ; + skos:exactMatch UMLS:C3161174, + UMLS:C3279561 ; biolink:category biolink:Disease . OMIM:613979 a owl:Class ; @@ -321678,7 +334934,6 @@ OMIM:613979 a owl:Class ; PMID:21549338 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:613983 ; - oboInOwl:hasDbXref UMLS:C1826706 ; oboInOwl:hasExactSynonym "PRPF6", "androgen receptor n-terminal domain-transactivating protein 1", "chromosome 20 open reading frame 14", @@ -321688,29 +334943,31 @@ OMIM:613979 a owl:Class ; "tom" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24148 ; - skos:exactMatch HGNC_symbol:PRPF6 ; + skos:exactMatch UMLS:C1826706, + HGNC:15860, + HGNC_symbol:PRPF6 ; biolink:category biolink:Gene . OMIM:613980 a owl:Class ; rdfs:label "atrial fibrillation, familial, 9" ; IAO:0000142 PMID:15922306, PMID:9070470 ; - oboInOwl:hasDbXref UMLS:C3151431 ; oboInOwl:hasExactSynonym "ATFB9", "atrial fibrillation, familial, 9" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C3151431 ; biolink:category biolink:Disease . OMIM:613981 a owl:Class ; rdfs:label "hypotrichosis 3" ; IAO:0000142 PMID:10793007, PMID:21188418 ; - oboInOwl:hasDbXref UMLS:C3151432, - ORPHA:90368 ; oboInOwl:hasExactSynonym "HYPT3", "hypotrichosis 3", "hypotrichosis simplex of the scalp 2" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C3151432, + ORPHA:90368 ; biolink:category biolink:Disease . OMIM:613984 a owl:Class ; @@ -321742,22 +334999,23 @@ OMIM:613984 a owl:Class ; PMID:7581463 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:227646 ; - oboInOwl:hasDbXref UMLS:C1414530, - UMLS:C3160738 ; oboInOwl:hasExactSynonym "FANCD2", "fancd2 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2177 ; - skos:exactMatch HGNC_symbol:FANCD2 ; + skos:exactMatch UMLS:C1414530, + UMLS:C3160738, + HGNC:3585, + HGNC_symbol:FANCD2 ; biolink:category biolink:Gene . OMIM:613986 a owl:Class ; rdfs:label "pituitary hormone deficiency, combined, 6" ; IAO:0000142 PMID:18728160 ; - oboInOwl:hasDbXref UMLS:C3151440 ; oboInOwl:hasExactSynonym "CPHD6", "pituitary hormone deficiency, combined, 6" ; rdfs:subClassOf OMIMPS:613038 ; + skos:exactMatch UMLS:C3151440 ; biolink:category biolink:Disease . OMIM:613989 a owl:Class ; @@ -321767,12 +335025,12 @@ OMIM:613989 a owl:Class ; PMID:18042801, PMID:18460650, PMID:21602826 ; - oboInOwl:hasDbXref UMLS:C3151443, - UMLS:C3151444 ; oboInOwl:hasExactSynonym "DKCA2", "dyskeratosis congenita, autosomal dominant 2", "dyskeratosis congenita, autosomal recessive 4" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C3151443, + UMLS:C3151444 ; biolink:category biolink:Disease . OMIM:613990 a owl:Class ; @@ -321783,23 +335041,24 @@ OMIM:613990 a owl:Class ; PMID:18979121, PMID:21199492, PMID:21477109 ; - oboInOwl:hasDbXref UMLS:C3151445 ; oboInOwl:hasExactSynonym "DKCA3", "dyskeratosis congenita, autosomal dominant 3" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C3151445 ; biolink:category biolink:Disease . OMIM:613991 a owl:Class ; rdfs:label "CDC42BPG" ; IAO:0000142 PMID:15194684 ; - oboInOwl:hasDbXref UMLS:C1540302 ; oboInOwl:hasExactSynonym "CDC42BPG", "cdc42-binding protein kinase, gamma", "mrck-gamma", "myotonic dystrophy kinase-related cdc42-binding kinase, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55561 ; - skos:exactMatch HGNC_symbol:CDC42BPG ; + skos:exactMatch UMLS:C1540302, + HGNC:29829, + HGNC_symbol:CDC42BPG ; biolink:category biolink:Gene . OMIM:613992 a owl:Class ; @@ -321808,21 +335067,21 @@ OMIM:613992 a owl:Class ; PMID:18697906, PMID:21164013, PMID:24476824 ; - oboInOwl:hasDbXref UMLS:C1428233 ; oboInOwl:hasExactSynonym "PPP2R2D", "b-delta", "b55-delta", "protein phosphatase 2, regulatory subunit b, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55844 ; - skos:exactMatch HGNC_symbol:PPP2R2D ; + skos:exactMatch UMLS:C1428233, + HGNC:23732, + HGNC_symbol:PPP2R2D ; biolink:category biolink:Gene . OMIM:613993 a owl:Class ; rdfs:label "MYL7" ; IAO:0000142 PMID:12083776, PMID:1429676 ; - oboInOwl:hasDbXref UMLS:C1427716 ; oboInOwl:hasExactSynonym "MYL7", "mlc2a", "mylc2a", @@ -321830,95 +335089,105 @@ OMIM:613993 a owl:Class ; "myosin, light chain 7, regulatory" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58498 ; - skos:exactMatch HGNC_symbol:MYL7 ; + skos:exactMatch UMLS:C1427716, + HGNC:21719, + HGNC_symbol:MYL7 ; biolink:category biolink:Gene . OMIM:613994 a owl:Class ; rdfs:label "NBPF4" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826362 ; oboInOwl:hasExactSynonym "NBPF4", "neuroblastoma breakpoint family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148545 ; - skos:exactMatch HGNC_symbol:NBPF4 ; + skos:exactMatch UMLS:C1826362, + HGNC:26550, + HGNC_symbol:NBPF4 ; biolink:category biolink:Gene . OMIM:613995 a owl:Class ; rdfs:label "NBPF5" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826363 ; oboInOwl:hasExactSynonym "NBPF5", "neuroblastoma breakpoint family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507044 ; - skos:exactMatch HGNC_symbol:NBPF5P ; + skos:exactMatch UMLS:C1826363, + HGNC:24491, + HGNC_symbol:NBPF5P ; biolink:category biolink:Gene . OMIM:613996 a owl:Class ; rdfs:label "NBPF6" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826364 ; oboInOwl:hasExactSynonym "NBPF6", "neuroblastoma breakpoint family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653149 ; - skos:exactMatch HGNC_symbol:NBPF6 ; + skos:exactMatch UMLS:C1826364, + HGNC:31988, + HGNC_symbol:NBPF6 ; biolink:category biolink:Gene . OMIM:613997 a owl:Class ; rdfs:label "NBPF7" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826365 ; oboInOwl:hasExactSynonym "NBPF7", "neuroblastoma breakpoint family, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343505 ; - skos:exactMatch HGNC_symbol:NBPF7P ; + skos:exactMatch UMLS:C1826365, + HGNC:31989, + HGNC_symbol:NBPF7P ; biolink:category biolink:Gene . OMIM:613998 a owl:Class ; rdfs:label "NBPF8" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826366 ; oboInOwl:hasExactSynonym "NBPF8", "neuroblastoma breakpoint family, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728841 ; - skos:exactMatch HGNC_symbol:NBPF8 ; + skos:exactMatch UMLS:C1826366, + HGNC:31990, + HGNC_symbol:NBPF8 ; biolink:category biolink:Gene . OMIM:613999 a owl:Class ; rdfs:label "NBPF9" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826367 ; oboInOwl:hasExactSynonym "NBPF9", "neuroblastoma breakpoint family, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400818 ; - skos:exactMatch HGNC_symbol:NBPF9 ; + skos:exactMatch UMLS:C1826367, + HGNC:31991, + HGNC_symbol:NBPF9 ; biolink:category biolink:Gene . OMIM:614000 a owl:Class ; rdfs:label "NBPF10" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826368 ; oboInOwl:hasExactSynonym "NBPF10", "neuroblastoma breakpoint family, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100132406 ; - skos:exactMatch HGNC_symbol:NBPF10 ; + skos:exactMatch UMLS:C1826368, + HGNC:31992, + HGNC_symbol:NBPF10 ; biolink:category biolink:Gene . OMIM:614001 a owl:Class ; rdfs:label "NBPF11" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826369 ; oboInOwl:hasExactSynonym "NBPF11", "neuroblastoma breakpoint family, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200030 ; - skos:exactMatch HGNC_symbol:NBPF11 ; + skos:exactMatch UMLS:C1826369, + HGNC:31993, + HGNC_symbol:NBPF11 ; biolink:category biolink:Gene . OMIM:614002 a owl:Class ; @@ -321928,12 +335197,13 @@ OMIM:614002 a owl:Class ; OMIM:614003 a owl:Class ; rdfs:label "NBPF14" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826372 ; oboInOwl:hasExactSynonym "NBPF14", "neuroblastoma breakpoint family, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25832 ; - skos:exactMatch HGNC_symbol:NBPF14 ; + skos:exactMatch UMLS:C1826372, + HGNC:25232, + HGNC_symbol:NBPF14 ; biolink:category biolink:Gene . OMIM:614004 a owl:Class ; @@ -321943,29 +335213,31 @@ OMIM:614004 a owl:Class ; OMIM:614005 a owl:Class ; IAO:0000142 PMID:16079250 ; IAO:0100001 OMIM:610414 ; - oboInOwl:hasDbXref UMLS:C1826374 ; - owl:deprecated true . + owl:deprecated true ; + skos:exactMatch UMLS:C1826374 . OMIM:614006 a owl:Class ; rdfs:label "NBPF19" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826377 ; oboInOwl:hasExactSynonym "NBPF19", "neuroblastoma breakpoint family, member 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101060226 ; - skos:exactMatch HGNC_symbol:NBPF19 ; + skos:exactMatch UMLS:C1826377, + HGNC:31999, + HGNC_symbol:NBPF19 ; biolink:category biolink:Gene . OMIM:614007 a owl:Class ; rdfs:label "NBPF20" ; IAO:0000142 PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1826378 ; oboInOwl:hasExactSynonym "NBPF20", "neuroblastoma breakpoint family, member 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100288142 ; - skos:exactMatch HGNC_symbol:NBPF20 ; + skos:exactMatch UMLS:C1826378, + HGNC:32000, + HGNC_symbol:NBPF20 ; biolink:category biolink:Gene . OMIM:614010 a owl:Class ; @@ -321975,7 +335247,6 @@ OMIM:614010 a owl:Class ; PMID:22887726 ; RO:0002525 CHR:9606chr8q12.1 ; RO:0003303 OMIM:614078 ; - oboInOwl:hasDbXref UMLS:C1825599 ; oboInOwl:hasExactSynonym "IMPAD1", "golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase", "inositol monophosphatase domain-containing protein 1", @@ -321983,39 +335254,42 @@ OMIM:614010 a owl:Class ; "myoinositol monophosphatase a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54928 ; - skos:exactMatch HGNC_symbol:BPNT2 ; + skos:exactMatch UMLS:C1825599, + HGNC:26019, + HGNC_symbol:BPNT2 ; biolink:category biolink:Gene . OMIM:614011 a owl:Class ; rdfs:label "ERVK-4" ; IAO:0000142 PMID:11401426 ; - oboInOwl:hasDbXref UMLS:C1422184 ; oboInOwl:hasExactSynonym "ERVK-4", "endogenous retrovirus group k, member 4", "herv-ki", "human endogenous retrovirus k 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60359 ; - skos:exactMatch HGNC_symbol:ERVK-4 ; + skos:exactMatch UMLS:C1422184, + HGNC:13756, + HGNC_symbol:ERVK-4 ; biolink:category biolink:Gene . OMIM:614012 a owl:Class ; rdfs:label "ERVK-5" ; IAO:0000142 PMID:11401426 ; - oboInOwl:hasDbXref UMLS:C1422185 ; oboInOwl:hasExactSynonym "ERVK-5", "endogenous retrovirus group k, member 5", "herv-kii", "human endogenous retrovirus k 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60358 ; - skos:exactMatch HGNC_symbol:ERVK-5 ; + skos:exactMatch UMLS:C1422185, + HGNC:13757, + HGNC_symbol:ERVK-5 ; biolink:category biolink:Gene . OMIM:614013 a owl:Class ; rdfs:label "ERVK-7" ; IAO:0000142 PMID:11401426 ; - oboInOwl:hasDbXref UMLS:C1539364 ; oboInOwl:hasExactSynonym "ERVK-7", "endogenous retrovirus group k, member 7", "herv-k102", @@ -322023,7 +335297,9 @@ OMIM:614013 a owl:Class ; "human endogenous retrovirus k 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:449619 ; - skos:exactMatch HGNC_symbol:ERVK-7 ; + skos:exactMatch UMLS:C1539364, + HGNC:31828, + HGNC_symbol:ERVK-7 ; biolink:category biolink:Gene . OMIM:614014 a owl:Class ; @@ -322031,12 +335307,13 @@ OMIM:614014 a owl:Class ; IAO:0000142 PMID:15974301, PMID:18992174, PMID:19137000 ; - oboInOwl:hasDbXref UMLS:C1538849 ; oboInOwl:hasExactSynonym "RNASE9", "ribonuclease, rnase a family, 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390443 ; - skos:exactMatch HGNC_symbol:RNASE9 ; + skos:exactMatch UMLS:C1538849, + HGNC:20673, + HGNC_symbol:RNASE9 ; biolink:category biolink:Gene . OMIM:614015 a owl:Class ; @@ -322044,7 +335321,6 @@ OMIM:614015 a owl:Class ; IAO:0000142 PMID:14610053, PMID:20159446, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1412864 ; oboInOwl:hasExactSynonym "DAGLA", "dagl-alpha", "dgl-alpha", @@ -322053,14 +335329,15 @@ OMIM:614015 a owl:Class ; "kiaa0659" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:747 ; - skos:exactMatch HGNC_symbol:DAGLA ; + skos:exactMatch UMLS:C1412864, + HGNC:1165, + HGNC_symbol:DAGLA ; biolink:category biolink:Gene . OMIM:614016 a owl:Class ; rdfs:label "DAGLB" ; IAO:0000142 PMID:14610053, PMID:20159446 ; - oboInOwl:hasDbXref UMLS:C2239329 ; oboInOwl:hasExactSynonym "DAGLB", "dagl-beta", "dgl-beta", @@ -322068,7 +335345,9 @@ OMIM:614016 a owl:Class ; "diacylglycerol lipase, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221955 ; - skos:exactMatch HGNC_symbol:DAGLB ; + skos:exactMatch UMLS:C2239329, + HGNC:28923, + HGNC_symbol:DAGLB ; biolink:category biolink:Gene . OMIM:614022 a owl:Class ; @@ -322077,11 +335356,11 @@ OMIM:614022 a owl:Class ; PMID:18088563, PMID:18378609, PMID:9070470 ; - oboInOwl:hasDbXref UMLS:C3151464, - ORPHA:334 ; oboInOwl:hasExactSynonym "ATFB10", "atrial fibrillation, familial, 10" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C3151464, + ORPHA:334 ; biolink:category biolink:Disease . OMIM:614025 a owl:Class ; @@ -322093,43 +335372,44 @@ OMIM:614025 a owl:Class ; PMID:3739751, PMID:3799360, PMID:6961921 ; - oboInOwl:hasDbXref UMLS:C3151466 ; oboInOwl:hasExactSynonym "hepatic lipase deficiency", "hl deficiency", "lipc deficiency" ; + skos:exactMatch UMLS:C3151466 ; biolink:category biolink:Disease . OMIM:614026 a owl:Class ; rdfs:label "KIF26B" ; IAO:0000142 PMID:20439720, PMID:29053796 ; - oboInOwl:hasDbXref UMLS:C1825708, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "KIF26B", "kinesin family member 26b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55083 ; - skos:exactMatch HGNC_symbol:KIF26B ; + skos:exactMatch UMLS:C1825708, + UMLS:C2986382, + HGNC:25484, + HGNC_symbol:KIF26B ; biolink:category biolink:Gene . OMIM:614027 a owl:Class ; rdfs:label "INSM2" ; IAO:0000142 PMID:21343251, PMID:30359270 ; - oboInOwl:hasDbXref UMLS:C1424992 ; oboInOwl:hasExactSynonym "INSM2", "insulinoma-associated 2", "insulinoma-associated gene 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84684 ; - skos:exactMatch HGNC_symbol:INSM2 ; + skos:exactMatch UMLS:C1424992, + HGNC:17539, + HGNC_symbol:INSM2 ; biolink:category biolink:Gene . OMIM:614029 a owl:Class ; rdfs:label "SPDYA" ; IAO:0000142 PMID:11980914, PMID:15611625 ; - oboInOwl:hasDbXref UMLS:C1823094 ; oboInOwl:hasExactSynonym "SPDYA", "rapid inducer of g2/m progression 1n oocytes, xenopus, homolog of, a", "ringo a", @@ -322138,7 +335418,9 @@ OMIM:614029 a owl:Class ; "spy1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245711 ; - skos:exactMatch HGNC_symbol:SPDYA ; + skos:exactMatch UMLS:C1823094, + HGNC:30613, + HGNC_symbol:SPDYA ; biolink:category biolink:Gene . OMIM:614030 a owl:Class ; @@ -322147,7 +335429,6 @@ OMIM:614030 a owl:Class ; PMID:18802405, PMID:20605920, PMID:22763696 ; - oboInOwl:hasDbXref UMLS:C1823095 ; oboInOwl:hasExactSynonym "SPDYC", "rapid inducer of g2/m progression 1n oocytes, xenopus, homolog of, c", "ringo c", @@ -322156,7 +335437,9 @@ OMIM:614030 a owl:Class ; "speedy/ringo cell cycle regulator family, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387778 ; - skos:exactMatch HGNC_symbol:SPDYC ; + skos:exactMatch UMLS:C1823095, + HGNC:32681, + HGNC_symbol:SPDYC ; biolink:category biolink:Gene . OMIM:614031 a owl:Class ; @@ -322166,13 +335449,14 @@ OMIM:614031 a owl:Class ; PMID:18222118, PMID:18347012, PMID:19801445 ; - oboInOwl:hasDbXref UMLS:C1538783 ; oboInOwl:hasExactSynonym "RANBP10", "kiaa1464", "ran-binding protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57610 ; - skos:exactMatch HGNC_symbol:RANBP10 ; + skos:exactMatch UMLS:C1538783, + HGNC:29285, + HGNC_symbol:RANBP10 ; biolink:category biolink:Gene . OMIM:614032 a owl:Class ; @@ -322180,32 +335464,33 @@ OMIM:614032 a owl:Class ; IAO:0000142 PMID:19293638, PMID:20516061, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1825671 ; oboInOwl:hasExactSynonym "TOX4", "kiaa0737", "langerhans cell protein 1", "tox high mobility group box family member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9878 ; - skos:exactMatch HGNC_symbol:TOX4 ; + skos:exactMatch UMLS:C1825671, + HGNC:20161, + HGNC_symbol:TOX4 ; biolink:category biolink:Gene . OMIM:614034 a owl:Class ; rdfs:label "heme oxygenase 1 deficiency" ; IAO:0000142 PMID:9380736, PMID:9884342 ; - oboInOwl:hasDbXref UMLS:C1841651 ; oboInOwl:hasExactSynonym "HMOX1D", "heme oxygenase 1 deficiency" ; + skos:exactMatch UMLS:C1841651 ; biolink:category biolink:Disease . OMIM:614036 a owl:Class ; rdfs:label "alpha-2-macroglobulin deficiency" ; IAO:0000142 PMID:2475424, PMID:94459 ; - oboInOwl:hasDbXref UMLS:C3279661 ; oboInOwl:hasExactSynonym "A2MD", - "alpha-2-macroglobulin deficiency" . + "alpha-2-macroglobulin deficiency" ; + skos:exactMatch UMLS:C3279661 . OMIM:614038 a owl:Class ; rdfs:label "lymphedema, primary, with myelodysplasia" ; @@ -322213,33 +335498,34 @@ OMIM:614038 a owl:Class ; PMID:21892158, PMID:295075, PMID:3157947 ; - oboInOwl:hasDbXref UMLS:C3279664 ; oboInOwl:hasExactSynonym "emberger syndrome", "lymphedema, primary, with myelodysplasia" ; + skos:exactMatch UMLS:C3279664 ; biolink:category biolink:Disease . OMIM:614039 a owl:Class ; rdfs:label "cortical dysplasia, complex, with other brain malformations 1" ; IAO:0000142 PMID:20829227, PMID:25059107 ; - oboInOwl:hasDbXref UMLS:C3808397 ; oboInOwl:hasExactSynonym "CDCBM1", "cortical dysplasia, complex, with other brain malformations 1" ; rdfs:subClassOf OMIMPS:614039 ; + skos:exactMatch UMLS:C3808397 ; biolink:category biolink:Disease . OMIM:614040 a owl:Class ; rdfs:label "ZNF467" ; IAO:0000142 PMID:12426389, PMID:21123171 ; - oboInOwl:hasDbXref UMLS:C1538188 ; oboInOwl:hasExactSynonym "ZNF467", "ezi, mouse, homolog of", "zfp467", "zinc finger protein 467" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:168544 ; - skos:exactMatch HGNC_symbol:ZNF467 ; + skos:exactMatch UMLS:C1538188, + HGNC:23154, + HGNC_symbol:ZNF467 ; biolink:category biolink:Gene . OMIM:614041 a owl:Class ; @@ -322325,28 +335611,29 @@ OMIM:614041 a owl:Class ; PMID:9671401 ; RO:0002525 CHR:9606chr13q14.2 ; RO:0003303 OMIM:182280 ; - oboInOwl:hasDbXref UMLS:C0035335, - UMLS:C0694889, - UMLS:C1851162, - UMLS:C2608045, - UMLS:C4017354, - UMLS:C4017355 ; oboInOwl:hasExactSynonym "RB1", "p105-rb", "rb transcriptional corepressor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5925 ; - skos:exactMatch HGNC_symbol:RB1 ; + skos:exactMatch UMLS:C0035335, + UMLS:C0694889, + UMLS:C1851162, + UMLS:C2608045, + UMLS:C4017354, + UMLS:C4017355, + HGNC:9884, + HGNC_symbol:RB1 ; biolink:category biolink:Gene . OMIM:614042 a owl:Class ; rdfs:label "moyamoya disease 5" ; IAO:0000142 PMID:19409525, PMID:20970362 ; - oboInOwl:hasDbXref UMLS:C3279690 ; oboInOwl:hasExactSynonym "MYMY5", "moyamoya disease 5" ; rdfs:subClassOf OMIMPS:252350 ; + skos:exactMatch UMLS:C3279690 ; biolink:category biolink:Disease . OMIM:614043 a owl:Class ; @@ -322355,68 +335642,73 @@ OMIM:614043 a owl:Class ; PMID:19265123, PMID:21220426, PMID:21785361 ; - oboInOwl:hasDbXref UMLS:C1416922 ; oboInOwl:hasExactSynonym "LRRFIP2", "leucine-rich repeat 1n flii-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9209 ; - skos:exactMatch HGNC_symbol:LRRFIP2 ; + skos:exactMatch UMLS:C1416922, + HGNC:6703, + HGNC_symbol:LRRFIP2 ; biolink:category biolink:Gene . OMIM:614044 a owl:Class ; rdfs:label "trypsinogen deficiency" ; IAO:0000142 PMID:14258916 ; - oboInOwl:hasDbXref UMLS:C0268417 ; - oboInOwl:hasExactSynonym "trypsinogen deficiency" . + oboInOwl:hasExactSynonym "trypsinogen deficiency" ; + skos:exactMatch UMLS:C0268417 . OMIM:614045 a owl:Class ; rdfs:label "FAM129B" ; IAO:0000142 PMID:21148485 ; - oboInOwl:hasDbXref UMLS:C1825276 ; oboInOwl:hasExactSynonym "FAM129B", "family with sequence similarity 129, member B", "melanoma invasion by erk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64855 ; - skos:exactMatch HGNC_symbol:NIBAN2 ; + skos:exactMatch UMLS:C1825276, + HGNC:25282, + HGNC_symbol:NIBAN2 ; biolink:category biolink:Gene . OMIM:614046 a owl:Class ; rdfs:label "ARGLU1" ; IAO:0000142 PMID:21454576, PMID:30698747 ; - oboInOwl:hasDbXref UMLS:C2239821 ; oboInOwl:hasExactSynonym "ARGLU1", "arginine- and glutamate-rich protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55082 ; - skos:exactMatch HGNC_symbol:ARGLU1 ; + skos:exactMatch UMLS:C2239821, + HGNC:25482, + HGNC_symbol:ARGLU1 ; biolink:category biolink:Gene . OMIM:614047 a owl:Class ; rdfs:label "MTHFD2L" ; IAO:0000142 PMID:21163947 ; - oboInOwl:hasDbXref UMLS:C1538021 ; oboInOwl:hasExactSynonym "MTHFD2L", "methylenetetrahydrofolate dehydrogenase 2-like, nadp(+)-dependent", "mthfd2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441024 ; - skos:exactMatch HGNC_symbol:MTHFD2L ; + skos:exactMatch UMLS:C1538021, + HGNC:31865, + HGNC_symbol:MTHFD2L ; biolink:category biolink:Gene . OMIM:614048 a owl:Class ; rdfs:label "ELAPOR2" ; IAO:0000142 PMID:17475571, PMID:21177533 ; - oboInOwl:hasDbXref UMLS:C1825685 ; oboInOwl:hasExactSynonym "ELAPOR2", "eig121-like", "endosome-lysosome-associated apoptosis and autophagy regulator 2", "kiaa1324-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222223 ; - skos:exactMatch HGNC_symbol:ELAPOR2 ; + skos:exactMatch UMLS:C1825685, + HGNC:21945, + HGNC_symbol:ELAPOR2 ; biolink:category biolink:Gene . OMIM:614049 a owl:Class ; @@ -322428,20 +335720,20 @@ OMIM:614049 a owl:Class ; PMID:21076161, PMID:23348765, PMID:9070470 ; - oboInOwl:hasDbXref UMLS:C3279693 ; oboInOwl:hasExactSynonym "ATFB11", "atrial fibrillation, familial, 11" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C3279693 ; biolink:category biolink:Disease . OMIM:614050 a owl:Class ; rdfs:label "atrial fibrillation, familial, 12" ; IAO:0000142 PMID:17245405, PMID:9070470 ; - oboInOwl:hasDbXref UMLS:C3279695 ; oboInOwl:hasExactSynonym "ATFB12", "atrial fibrillation, familial, 12" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C3279695 ; biolink:category biolink:Disease . OMIM:614051 a owl:Class ; @@ -322453,7 +335745,6 @@ OMIM:614054 a owl:Class ; IAO:0000142 PMID:10574462, PMID:20643647, PMID:20657015 ; - oboInOwl:hasDbXref UMLS:C1825155 ; oboInOwl:hasExactSynonym "RIMKLB", "kiaa1238", "n-acetylaspartyl-glutamate synthetase", @@ -322461,28 +335752,30 @@ OMIM:614054 a owl:Class ; "ribosomal modification protein rimk-like family, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57494 ; - skos:exactMatch HGNC_symbol:RIMKLB ; + skos:exactMatch UMLS:C1825155, + HGNC:29228, + HGNC_symbol:RIMKLB ; biolink:category biolink:Gene . OMIM:614056 a owl:Class ; rdfs:label "PPP1R26" ; IAO:0000142 PMID:16053918, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1428787 ; oboInOwl:hasExactSynonym "PPP1R26", "drim-interacting protein", "kiaa0649 gene", "protein phosphatase 1, regulatory subunit 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9858 ; - skos:exactMatch HGNC_symbol:PPP1R26 ; + skos:exactMatch UMLS:C1428787, + HGNC:29089, + HGNC_symbol:PPP1R26 ; biolink:category biolink:Gene . OMIM:614057 a owl:Class ; rdfs:label "MIR409" ; IAO:0000142 PMID:15891114, PMID:20570858 ; - oboInOwl:hasDbXref UMLS:C1826017 ; oboInOwl:hasExactSynonym "MIR409", "micro RNA 409", "micro RNA 409-3p", @@ -322491,7 +335784,9 @@ OMIM:614057 a owl:Class ; "mirna409" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574413 ; - skos:exactMatch HGNC_symbol:MIR409 ; + skos:exactMatch UMLS:C1826017, + HGNC:32055, + HGNC_symbol:MIR409 ; biolink:category biolink:Gene . OMIM:614058 a owl:Class ; @@ -322503,40 +335798,43 @@ OMIM:614058 a owl:Class ; PMID:8662230 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:229800 ; - oboInOwl:hasDbXref UMLS:C1416630 ; oboInOwl:hasExactSynonym "KHK", "fructokinase, hepatic", "ketohexokinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3795 ; - skos:exactMatch HGNC_symbol:KHK ; + skos:exactMatch UMLS:C1416630, + HGNC:6315, + HGNC_symbol:KHK ; biolink:category biolink:Gene . OMIM:614059 a owl:Class ; rdfs:label "MIR338" ; IAO:0000142 PMID:20223197, PMID:20223198 ; - oboInOwl:hasDbXref UMLS:C1537881 ; oboInOwl:hasExactSynonym "MIR338", "micro RNA 338", "mirn338", "mirna338" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442906 ; - skos:exactMatch HGNC_symbol:MIR338 ; + skos:exactMatch UMLS:C1537881, + HGNC:31775, + HGNC_symbol:MIR338 ; biolink:category biolink:Gene . OMIM:614060 a owl:Class ; rdfs:label "HOTTIP" ; IAO:0000142 PMID:21423168 ; - oboInOwl:hasDbXref UMLS:C2829932 ; oboInOwl:hasExactSynonym "HOTTIP", "hoxa distal transcript antisense RNA", "hoxa transcript at the distal tip", "noncoding RNA 213" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100316868 ; - skos:exactMatch HGNC_symbol:HOTTIP ; + skos:exactMatch UMLS:C2829932, + HGNC:37461, + HGNC_symbol:HOTTIP ; biolink:category biolink:Gene . OMIM:614061 a owl:Class ; @@ -322545,14 +335843,15 @@ OMIM:614061 a owl:Class ; PMID:11867215, PMID:20534456, PMID:20724538 ; - oboInOwl:hasDbXref UMLS:C1538532 ; oboInOwl:hasExactSynonym "OLFM4", "gcsf-stimulated clone 1", "gw112", "olfactomedin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10562 ; - skos:exactMatch HGNC_symbol:OLFM4 ; + skos:exactMatch UMLS:C1538532, + HGNC:17190, + HGNC_symbol:OLFM4 ; biolink:category biolink:Gene . OMIM:614062 a owl:Class ; @@ -322562,7 +335861,6 @@ OMIM:614062 a owl:Class ; PMID:18854160, PMID:21240187, PMID:9418861 ; - oboInOwl:hasDbXref UMLS:C1413265 ; oboInOwl:hasExactSynonym "CDC42BPB", "cdc42-binding protein kinase, beta", "cdc42bp-beta", @@ -322570,7 +335868,9 @@ OMIM:614062 a owl:Class ; "myotonic dystrophy kinase-related cdc42-binding kinase, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9578 ; - skos:exactMatch HGNC_symbol:CDC42BPB ; + skos:exactMatch UMLS:C1413265, + HGNC:1738, + HGNC_symbol:CDC42BPB ; biolink:category biolink:Gene . OMIM:614064 a owl:Class ; @@ -322581,7 +335881,6 @@ OMIM:614064 a owl:Class ; PMID:9455477 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:614069 ; - oboInOwl:hasDbXref UMLS:C1538151 ; oboInOwl:hasExactSynonym "ZBTB24", "kiaa0441", "poz-, at hook-, and zinc finger-containing protein 2", @@ -322589,17 +335888,20 @@ OMIM:614064 a owl:Class ; "zinc finger- and btb domain-containing protein 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9841 ; - skos:exactMatch HGNC_symbol:ZBTB24 ; + skos:exactMatch UMLS:C1538151, + HGNC:21143, + HGNC_symbol:ZBTB24 ; biolink:category biolink:Gene . OMIM:614065 a owl:Class ; rdfs:label "myopathy, distal, 4" ; IAO:0000142 PMID:15824355, PMID:21620354 ; - oboInOwl:hasDbXref UMLS:C3279722 ; oboInOwl:hasExactSynonym "MPD4", "myopathy, distal, 4", "williams distal myopathy" ; + rdfs:subClassOf OMIMPS:160500 ; + skos:exactMatch UMLS:C3279722 ; biolink:category biolink:Disease . OMIM:614068 a owl:Class ; @@ -322611,14 +335913,15 @@ OMIM:614068 a owl:Class ; PMID:28973684 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:617866 ; - oboInOwl:hasDbXref UMLS:C1824395 ; oboInOwl:hasExactSynonym "IFT43", "chromosome 14 open reading frame 179", "intraflagellar transport 43", "intraflagellar transport 43, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112752 ; - skos:exactMatch HGNC_symbol:IFT43 ; + skos:exactMatch UMLS:C1824395, + HGNC:29669, + HGNC_symbol:IFT43 ; biolink:category biolink:Gene . OMIM:614071 a owl:Class ; @@ -322628,7 +335931,6 @@ OMIM:614071 a owl:Class ; PMID:20093627, PMID:20412299, PMID:21240187 ; - oboInOwl:hasDbXref UMLS:C3471264 ; oboInOwl:hasExactSynonym "MYZAP", "grinl1a complex locus", "grinl1a complex locus combined transcript 1", @@ -322640,7 +335942,9 @@ OMIM:614071 a owl:Class ; "myzap-polr2m locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100820829 ; - skos:exactMatch HGNC_symbol:MYZAP ; + skos:exactMatch UMLS:C3471264, + HGNC:43444, + HGNC_symbol:MYZAP ; biolink:category biolink:Gene . OMIM:614084 a owl:Class ; @@ -322651,29 +335955,31 @@ OMIM:614084 a owl:Class ; PMID:30628060 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:617996 ; - oboInOwl:hasDbXref UMLS:C1538106, - UMLS:C4693865 ; oboInOwl:hasExactSynonym "WEE2", "wee1 homolog 2", "wee1, s. pombe, homolog of, 2", "wee1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494551 ; - skos:exactMatch HGNC_symbol:WEE2 ; + skos:exactMatch UMLS:C1538106, + UMLS:C4693865, + HGNC:19684, + HGNC_symbol:WEE2 ; biolink:category biolink:Gene . OMIM:614085 a owl:Class ; rdfs:label "RHNO1" ; IAO:0000142 PMID:20811708, PMID:21659603 ; - oboInOwl:hasDbXref UMLS:C1824353 ; oboInOwl:hasExactSynonym "RHNO1", "chromosome 12 open reading frame 32", "rad9-, rad1-, and hus1-interacting nuclear orphan 1", "rhino" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83695 ; - skos:exactMatch HGNC_symbol:RHNO1 ; + skos:exactMatch UMLS:C1824353, + HGNC:28206, + HGNC_symbol:RHNO1 ; biolink:category biolink:Gene . OMIM:614086 a owl:Class ; @@ -322688,15 +335994,16 @@ OMIM:614086 a owl:Class ; PMID:8813877 ; RO:0002525 CHR:9606chr5q11.2 ; RO:0003303 OMIM:618695 ; - oboInOwl:hasDbXref UMLS:C3463911, - UMLS:C5231464 ; oboInOwl:hasExactSynonym "MCIDAS", "idas", "multiciliate differentiation and DNA synthesis-associated cell cycle protein", "multicilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345643 ; - skos:exactMatch HGNC_symbol:MCIDAS ; + skos:exactMatch UMLS:C3463911, + UMLS:C5231464, + HGNC:40050, + HGNC_symbol:MCIDAS ; biolink:category biolink:Gene . OMIM:614087 a owl:Class ; @@ -322712,23 +336019,24 @@ OMIM:614088 a owl:Class ; PMID:8639917 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:111250 ; - oboInOwl:hasDbXref UMLS:C1415842 ; oboInOwl:hasExactSynonym "ICAM4", "cd242 antigen", "intracellular adhesion molecule 4", "lw gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3386 ; - skos:exactMatch HGNC_symbol:ICAM4 ; + skos:exactMatch UMLS:C1415842, + HGNC:5347, + HGNC_symbol:ICAM4 ; biolink:category biolink:Gene . OMIM:614089 a owl:Class ; rdfs:label "atrial septal defect 3" ; IAO:0000142 PMID:15735645 ; - oboInOwl:hasDbXref UMLS:C3279790 ; oboInOwl:hasExactSynonym "ASD3", "atrial septal defect 3" ; rdfs:subClassOf OMIMPS:108800 ; + skos:exactMatch UMLS:C3279790 ; biolink:category biolink:Disease . OMIM:614092 a owl:Class ; @@ -322737,38 +336045,41 @@ OMIM:614092 a owl:Class ; PMID:19607794 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:619790 ; - oboInOwl:hasDbXref UMLS:C2239886 ; oboInOwl:hasExactSynonym "RILPL1", "gapdh competitor of siah protein enhances life", "rab-interacting lysosomal protein-like 1", "rilp-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353116 ; - skos:exactMatch HGNC_symbol:RILPL1 ; + skos:exactMatch UMLS:C2239886, + HGNC:26814, + HGNC_symbol:RILPL1 ; biolink:category biolink:Gene . OMIM:614093 a owl:Class ; rdfs:label "RILPL2" ; IAO:0000142 PMID:14668488 ; - oboInOwl:hasDbXref UMLS:C2239887 ; oboInOwl:hasExactSynonym "RILPL2", "rab-interacting lysosomal protein-like 2", "rilp-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196383 ; - skos:exactMatch HGNC_symbol:RILPL2 ; + skos:exactMatch UMLS:C2239887, + HGNC:28787, + HGNC_symbol:RILPL2 ; biolink:category biolink:Gene . OMIM:614094 a owl:Class ; rdfs:label "MARVELD3" ; IAO:0000142 PMID:19364627, PMID:20028514 ; - oboInOwl:hasDbXref UMLS:C1537668 ; oboInOwl:hasExactSynonym "MARVELD3", "marvel domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91862 ; - skos:exactMatch HGNC_symbol:MARVELD3 ; + skos:exactMatch UMLS:C1537668, + HGNC:30525, + HGNC_symbol:MARVELD3 ; biolink:category biolink:Gene . OMIM:614095 a owl:Class ; @@ -322777,24 +336088,25 @@ OMIM:614095 a owl:Class ; PMID:9657976 ; RO:0002525 CHR:9606chr14q11.2-q12 ; RO:0003303 OMIM:261650 ; - oboInOwl:hasDbXref UMLS:C1418372 ; oboInOwl:hasExactSynonym "PCK2", "pepck2", "phosphoenolpyruvate carboxykinase 2, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5106 ; - skos:exactMatch HGNC_symbol:PCK2 ; + skos:exactMatch UMLS:C1418372, + HGNC:8725, + HGNC_symbol:PCK2 ; biolink:category biolink:Gene . OMIM:614096 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 8" ; IAO:0000142 PMID:21549344, PMID:25058219 ; - oboInOwl:hasDbXref UMLS:C3279793 ; oboInOwl:hasExactSynonym "COXPD8", "cardiomyopathy, hypertrophic mitochondrial, fatal infantile", "combined oxidative phosphorylation deficiency 8" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3279793 ; biolink:category biolink:Disease . OMIM:614099 a owl:Class ; @@ -322802,10 +336114,10 @@ OMIM:614099 a owl:Class ; IAO:0000142 PMID:20493458, PMID:20817137, PMID:21378380 ; - oboInOwl:hasDbXref UMLS:C3279807 ; oboInOwl:hasExactSynonym "CED3", "cranioectodermal dysplasia 3" ; rdfs:subClassOf OMIMPS:218330 ; + skos:exactMatch UMLS:C3279807 ; biolink:category biolink:Disease . OMIM:614100 a owl:Class ; @@ -322817,16 +336129,16 @@ OMIM:614100 a owl:Class ; PMID:4237829, PMID:5156260, PMID:7304406 ; - oboInOwl:hasDbXref UMLS:C0432335 ; oboInOwl:hasExactSynonym "cutis laxa, neonatal, with marfanoid phenotype", "cutis laxa-marfanoid syndrome" ; + skos:exactMatch UMLS:C0432335 ; biolink:category biolink:Disease . OMIM:614101 a owl:Class ; rdfs:label "plasma fibronectin deficiency" ; IAO:0000142 PMID:2869211 ; - oboInOwl:hasDbXref UMLS:C2675436 ; oboInOwl:hasExactSynonym "plasma fibronectin deficiency" ; + skos:exactMatch UMLS:C2675436 ; biolink:category biolink:Disease . OMIM:614103 a owl:Class ; @@ -322836,20 +336148,21 @@ OMIM:614103 a owl:Class ; PMID:20358611, PMID:6476475, PMID:7972431 ; - oboInOwl:hasDbXref UMLS:C0398370 ; oboInOwl:hasExactSynonym "lipedema" ; + skos:exactMatch UMLS:C0398370 ; biolink:category biolink:Disease . OMIM:614106 a owl:Class ; rdfs:label "MLIP" ; IAO:0000142 PMID:21498514 ; - oboInOwl:hasDbXref UMLS:C1427504 ; oboInOwl:hasExactSynonym "MLIP", "chromosome 6 open reading frame 142", "muscular lmna-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90523 ; - skos:exactMatch HGNC_symbol:MLIP ; + skos:exactMatch UMLS:C1427504, + HGNC:21355, + HGNC_symbol:MLIP ; biolink:category biolink:Gene . OMIM:614107 a owl:Class ; @@ -322857,21 +336170,21 @@ OMIM:614107 a owl:Class ; IAO:0000142 PMID:20699224, PMID:20701745, PMID:24045845 ; - oboInOwl:hasDbXref UMLS:C2681636, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "KPNA7", "importin alpha-8", "karyopherin alpha-7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402569 ; - skos:exactMatch HGNC_symbol:KPNA7 ; + skos:exactMatch UMLS:C2681636, + UMLS:C2986382, + HGNC:21839, + HGNC_symbol:KPNA7 ; biolink:category biolink:Gene . OMIM:614108 a owl:Class ; rdfs:label "BPIFB2" ; IAO:0000142 PMID:12185532, PMID:12837268 ; - oboInOwl:hasDbXref UMLS:C1424054 ; oboInOwl:hasExactSynonym "BPIFB2", "bactericidal permeability-increasing protein-like 1", "bpi fold-containing protein, family b, member 2", @@ -322879,45 +336192,50 @@ OMIM:614108 a owl:Class ; "rysr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80341 ; - skos:exactMatch HGNC_symbol:BPIFB2 ; + skos:exactMatch UMLS:C1424054, + HGNC:16177, + HGNC_symbol:BPIFB2 ; biolink:category biolink:Gene . OMIM:614109 a owl:Class ; rdfs:label "BPIFC" ; IAO:0000142 PMID:12185532 ; - oboInOwl:hasDbXref UMLS:C1424335 ; oboInOwl:hasExactSynonym "BPIFC", "bactericidal permeability-increasing protein-like 2", "bpi fold-containing protein, family c", "bpi-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254240 ; - skos:exactMatch HGNC_symbol:BPIFC ; + skos:exactMatch UMLS:C1424335, + HGNC:16503, + HGNC_symbol:BPIFC ; biolink:category biolink:Gene . OMIM:614110 a owl:Class ; rdfs:label "BPIFB6" ; IAO:0000142 PMID:12185532 ; - oboInOwl:hasDbXref UMLS:C1424336 ; oboInOwl:hasExactSynonym "BPIFB6", "bactericidal permeability-increasing protein-like 3", "bpi fold-containing protein, family b, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128859 ; - skos:exactMatch HGNC_symbol:BPIFB6 ; + skos:exactMatch UMLS:C1424336, + HGNC:16504, + HGNC_symbol:BPIFB6 ; biolink:category biolink:Gene . OMIM:614112 a owl:Class ; rdfs:label "MIR320A" ; IAO:0000142 PMID:20628061 ; - oboInOwl:hasDbXref UMLS:C1537870 ; oboInOwl:hasExactSynonym "MIR320A", "micro RNA 320a", "mirn320a", "mirna320a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407037 ; - skos:exactMatch HGNC_symbol:MIR320A ; + skos:exactMatch UMLS:C1537870, + HGNC:31632, + HGNC_symbol:MIR320A ; biolink:category biolink:Gene . OMIM:614113 a owl:Class ; @@ -322925,34 +336243,36 @@ OMIM:614113 a owl:Class ; IAO:0000142 PMID:18060736, PMID:2338345 ; RO:0002525 CHR:9606chr9p24 ; - oboInOwl:hasDbXref UMLS:C3279842 ; oboInOwl:hasExactSynonym "MRD2", "intellectual developmental disorder, autosomal dominant 2", "mental retardation, autosomal dominant 2" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C3279842 ; biolink:category biolink:Disease . OMIM:614117 a owl:Class ; rdfs:label "EXOC3L1" ; IAO:0000142 PMID:18480549 ; - oboInOwl:hasDbXref UMLS:C1825076 ; oboInOwl:hasExactSynonym "EXOC3L1", "exoc3l", "exocyst complex component 3-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283849 ; - skos:exactMatch HGNC_symbol:EXOC3L1 ; + skos:exactMatch UMLS:C1825076, + HGNC:27540, + HGNC_symbol:EXOC3L1 ; biolink:category biolink:Gene . OMIM:614118 a owl:Class ; rdfs:label "TSHZ2" ; IAO:0000142 PMID:19745106 ; - oboInOwl:hasDbXref UMLS:C1823515 ; oboInOwl:hasExactSynonym "TSHZ2", "teashirt zinc finger homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128553 ; - skos:exactMatch HGNC_symbol:TSHZ2 ; + skos:exactMatch UMLS:C1823515, + HGNC:13010, + HGNC_symbol:TSHZ2 ; biolink:category biolink:Gene . OMIM:614119 a owl:Class ; @@ -322963,28 +336283,28 @@ OMIM:614119 a owl:Class ; PMID:19745106, PMID:21543328, PMID:27668656 ; - oboInOwl:hasDbXref UMLS:C1823516 ; oboInOwl:hasExactSynonym "TSHZ3", "kiaa1474", "teashirt zinc finger homeobox 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57616 ; - skos:exactMatch HGNC_symbol:TSHZ3 ; + skos:exactMatch UMLS:C1823516, + HGNC:30700, + HGNC_symbol:TSHZ3 ; biolink:category biolink:Gene . OMIM:614120 a owl:Class ; rdfs:label "hydrolethalus syndrome 2" ; IAO:0000142 PMID:21552264 ; - oboInOwl:hasDbXref UMLS:C3279899 ; oboInOwl:hasExactSynonym "HLS2", "hydrolethalus syndrome 2" ; rdfs:subClassOf OMIMPS:236680 ; + skos:exactMatch UMLS:C3279899 ; biolink:category biolink:Disease . OMIM:614121 a owl:Class ; rdfs:label "TENT2" ; IAO:0000142 PMID:15070731 ; - oboInOwl:hasDbXref UMLS:C1428624 ; oboInOwl:hasExactSynonym "TENT2", "gld2", "poly(a) polymerase-associated domain-containing protein 4", @@ -322992,7 +336312,9 @@ OMIM:614121 a owl:Class ; "terminal uridyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:167153 ; - skos:exactMatch HGNC_symbol:TENT2 ; + skos:exactMatch UMLS:C1428624, + HGNC:26776, + HGNC_symbol:TENT2 ; biolink:category biolink:Gene . OMIM:614123 a owl:Class ; @@ -323009,13 +336331,14 @@ OMIM:614123 a owl:Class ; PMID:31102500 ; RO:0002525 CHR:9606chr1q24.1 ; RO:0003303 OMIM:213980 ; - oboInOwl:hasDbXref UMLS:C1823293, - UMLS:C1859252 ; oboInOwl:hasExactSynonym "TMCO1", "transmembrane and coiled-coil domains protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54499 ; - skos:exactMatch HGNC_symbol:TMCO1 ; + skos:exactMatch UMLS:C1823293, + UMLS:C1859252, + HGNC:18188, + HGNC_symbol:TMCO1 ; biolink:category biolink:Gene . OMIM:614124 a owl:Class ; @@ -323023,7 +336346,6 @@ OMIM:614124 a owl:Class ; IAO:0000142 PMID:10718198, PMID:20576599, PMID:22570503 ; - oboInOwl:hasDbXref UMLS:C2829540 ; oboInOwl:hasExactSynonym "GPCPD1", "endometrial differentiation 3", "glycerophosphocholine phosphodiesterase 1", @@ -323032,7 +336354,9 @@ OMIM:614124 a owl:Class ; "kiaa1434" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56261 ; - skos:exactMatch HGNC_symbol:GPCPD1 ; + skos:exactMatch UMLS:C2829540, + HGNC:26957, + HGNC_symbol:GPCPD1 ; biolink:category biolink:Gene . OMIM:614125 a owl:Class ; @@ -323040,21 +336364,21 @@ OMIM:614125 a owl:Class ; IAO:0000142 PMID:17855347, PMID:18366076, PMID:21896782 ; - oboInOwl:hasDbXref UMLS:C1426085 ; oboInOwl:hasExactSynonym "DPPA4", "developmental pluripotency-associated gene 4", "ecat15-1", "embryonic stem cell-associated transcript 15-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55211 ; - skos:exactMatch HGNC_symbol:DPPA4 ; + skos:exactMatch UMLS:C1426085, + HGNC:19200, + HGNC_symbol:DPPA4 ; biolink:category biolink:Gene . OMIM:614126 a owl:Class ; rdfs:label "MTARC1" ; IAO:0000142 PMID:19053771, PMID:21029045 ; - oboInOwl:hasDbXref UMLS:C1826272 ; oboInOwl:hasExactSynonym "MTARC1", "marc1", "mitochondrial amidoxime-reducing component 1", @@ -323063,13 +336387,14 @@ OMIM:614126 a owl:Class ; "mosc domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64757 ; - skos:exactMatch HGNC_symbol:MTARC1 ; + skos:exactMatch UMLS:C1826272, + HGNC:26189, + HGNC_symbol:MTARC1 ; biolink:category biolink:Gene . OMIM:614127 a owl:Class ; rdfs:label "MTARC2" ; IAO:0000142 PMID:21029045 ; - oboInOwl:hasDbXref UMLS:C1826273 ; oboInOwl:hasExactSynonym "MTARC2", "marc2", "mitochondrial amidoxime-reducing component 2", @@ -323078,20 +336403,23 @@ OMIM:614127 a owl:Class ; "mosc domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54996 ; - skos:exactMatch HGNC_symbol:MTARC2 ; + skos:exactMatch UMLS:C1826273, + HGNC:26064, + HGNC_symbol:MTARC2 ; biolink:category biolink:Gene . OMIM:614130 a owl:Class ; rdfs:label "ADAD1" ; IAO:0000142 PMID:15649457, PMID:7543294 ; - oboInOwl:hasDbXref UMLS:C2240366 ; oboInOwl:hasExactSynonym "ADAD1", "adenosine deaminase domain-containing protein 1, testis-specific", "testis nuclear rna-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132612 ; - skos:exactMatch HGNC_symbol:ADAD1 ; + skos:exactMatch UMLS:C2240366, + HGNC:30713, + HGNC_symbol:ADAD1 ; biolink:category biolink:Gene . OMIM:614132 a owl:Class ; @@ -323101,47 +336429,50 @@ OMIM:614132 a owl:Class ; OMIM:614133 a owl:Class ; rdfs:label "HEPACAM2" ; IAO:0000142 PMID:19358830 ; - oboInOwl:hasDbXref UMLS:C2681565 ; oboInOwl:hasExactSynonym "HEPACAM2", "hepacam family member 2", "mitotic kinetics regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253012 ; - skos:exactMatch HGNC_symbol:HEPACAM2 ; + skos:exactMatch UMLS:C2681565, + HGNC:27364, + HGNC_symbol:HEPACAM2 ; biolink:category biolink:Gene . OMIM:614135 a owl:Class ; rdfs:label "epiphyseal dysplasia, multiple, 6" ; IAO:0000142 PMID:11565064 ; - oboInOwl:hasDbXref UMLS:C2675767 ; oboInOwl:hasExactSynonym "EDM6", "epiphyseal dysplasia, multiple, 6" ; rdfs:subClassOf OMIMPS:132400 ; + skos:exactMatch UMLS:C2675767 ; biolink:category biolink:Disease . OMIM:614136 a owl:Class ; rdfs:label "TRAPPC8" ; IAO:0000142 PMID:10231032, PMID:21525244 ; - oboInOwl:hasDbXref UMLS:C1428805 ; oboInOwl:hasExactSynonym "TRAPPC8", "kiaa1012", "trafficking protein particle complex, subunit 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22878 ; - skos:exactMatch HGNC_symbol:TRAPPC8 ; + skos:exactMatch UMLS:C1428805, + HGNC:29169, + HGNC_symbol:TRAPPC8 ; biolink:category biolink:Gene . OMIM:614137 a owl:Class ; rdfs:label "BET3L" ; IAO:0000142 PMID:21525244 ; - oboInOwl:hasDbXref UMLS:C1427309 ; oboInOwl:hasExactSynonym "BET3L", "bet3, s. cerevisiae, homolog-like", "trafficking protein particle complex 3-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100128327 ; - skos:exactMatch HGNC_symbol:TRAPPC3L ; + skos:exactMatch UMLS:C1427309, + HGNC:21090, + HGNC_symbol:TRAPPC3L ; biolink:category biolink:Gene . OMIM:614138 a owl:Class ; @@ -323153,13 +336484,14 @@ OMIM:614138 a owl:Class ; PMID:27707803 ; RO:0002525 CHR:9606chr4q35.1 ; RO:0003303 OMIM:615356 ; - oboInOwl:hasDbXref UMLS:C2240268 ; oboInOwl:hasExactSynonym "TRAPPC11", "chromosome 4 open reading frame 41", "trafficking protein particle complex, subunit 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60684 ; - skos:exactMatch HGNC_symbol:TRAPPC11 ; + skos:exactMatch UMLS:C2240268, + HGNC:25751, + HGNC_symbol:TRAPPC11 ; biolink:category biolink:Gene . OMIM:614139 a owl:Class ; @@ -323168,13 +336500,14 @@ OMIM:614139 a owl:Class ; PMID:28777934 ; RO:0002525 CHR:9606chr2p25.3 ; RO:0003303 OMIM:617669 ; - oboInOwl:hasDbXref UMLS:C1428367 ; oboInOwl:hasExactSynonym "TRAPPC12", "tetratricopeptide repeat domain-containing protein 15", "trafficking protein particle complex, subunit 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51112 ; - skos:exactMatch HGNC_symbol:TRAPPC12 ; + skos:exactMatch UMLS:C1428367, + HGNC:24284, + HGNC_symbol:TRAPPC12 ; biolink:category biolink:Gene . OMIM:614140 a owl:Class ; @@ -323190,7 +336523,6 @@ OMIM:614140 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr22q11.23 ; RO:0003303 OMIM:145420 ; - oboInOwl:hasDbXref UMLS:C1823097 ; oboInOwl:hasExactSynonym "SPECC1L", "kiaa0376", "ny-ren-22", @@ -323198,7 +336530,9 @@ OMIM:614140 a owl:Class ; "sperm antigen with calponin homology and coiled-coil domains 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23384 ; - skos:exactMatch HGNC_symbol:SPECC1L ; + skos:exactMatch UMLS:C1823097, + HGNC:29022, + HGNC_symbol:SPECC1L ; biolink:category biolink:Gene . OMIM:614141 a owl:Class ; @@ -323211,37 +336545,40 @@ OMIM:614141 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr4q31.3 ; RO:0003303 OMIM:615490 ; - oboInOwl:hasDbXref UMLS:C1423877 ; oboInOwl:hasExactSynonym "TRIM2", "kiaa0517", "tripartite motif-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23321 ; - skos:exactMatch HGNC_symbol:TRIM2 ; + skos:exactMatch UMLS:C1423877, + HGNC:15974, + HGNC_symbol:TRIM2 ; biolink:category biolink:Gene . OMIM:614142 a owl:Class ; rdfs:label "CUEDC2" ; IAO:0000142 PMID:17347654, PMID:21572428 ; - oboInOwl:hasDbXref UMLS:C1428692 ; oboInOwl:hasExactSynonym "CUEDC2", "cue domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79004 ; - skos:exactMatch HGNC_symbol:CUEDC2 ; + skos:exactMatch UMLS:C1428692, + HGNC:28352, + HGNC_symbol:CUEDC2 ; biolink:category biolink:Gene . OMIM:614143 a owl:Class ; rdfs:label "IGFLR1" ; IAO:0000142 PMID:21454693 ; - oboInOwl:hasDbXref UMLS:C1823414 ; oboInOwl:hasExactSynonym "IGFLR1", "igf-like family receptor 1", "transmembrane protein 149" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79713 ; - skos:exactMatch HGNC_symbol:IGFLR1 ; + skos:exactMatch UMLS:C1823414, + HGNC:23620, + HGNC_symbol:IGFLR1 ; biolink:category biolink:Gene . OMIM:614144 a owl:Class ; @@ -323254,13 +336591,14 @@ OMIM:614144 a owl:Class ; PMID:24886560 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:617120 ; - oboInOwl:hasDbXref UMLS:C2240201 ; oboInOwl:hasExactSynonym "B9D1", "b9 domain-containing protein 1", "mks1-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27077 ; - skos:exactMatch HGNC_symbol:B9D1 ; + skos:exactMatch UMLS:C2240201, + HGNC:24123, + HGNC_symbol:B9D1 ; biolink:category biolink:Gene . OMIM:614145 a owl:Class ; @@ -323268,49 +336606,53 @@ OMIM:614145 a owl:Class ; IAO:0000142 PMID:21737058 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:614205 ; - oboInOwl:hasDbXref UMLS:C1428477 ; oboInOwl:hasExactSynonym "CCDC8", "coiled-coil domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83987 ; - skos:exactMatch HGNC_symbol:CCDC8 ; + skos:exactMatch UMLS:C1428477, + HGNC:25367, + HGNC_symbol:CCDC8 ; biolink:category biolink:Gene . OMIM:614146 a owl:Class ; rdfs:label "DNAAF9" ; IAO:0000142 PMID:21683323 ; - oboInOwl:hasDbXref UMLS:C1425047 ; oboInOwl:hasExactSynonym "DNAAF9", "chromosome 20 open reading frame 194", "dynein, axonemal, assembly factor 9", "shulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25943 ; - skos:exactMatch HGNC_symbol:DNAAF9 ; + skos:exactMatch UMLS:C1425047, + HGNC:17721, + HGNC_symbol:DNAAF9 ; biolink:category biolink:Gene . OMIM:614147 a owl:Class ; rdfs:label "C1QTNF8" ; IAO:0000142 PMID:19666007 ; - oboInOwl:hasDbXref UMLS:C1429194 ; oboInOwl:hasExactSynonym "C1QTNF8", "c1q- and tumor necrosis factor-related protein 8", "ctrp8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390664 ; - skos:exactMatch HGNC_symbol:C1QTNF8 ; + skos:exactMatch UMLS:C1429194, + HGNC:31374, + HGNC_symbol:C1QTNF8 ; biolink:category biolink:Gene . OMIM:614148 a owl:Class ; rdfs:label "C1QTNF9B" ; IAO:0000142 PMID:19666007 ; - oboInOwl:hasDbXref UMLS:C3146706 ; oboInOwl:hasExactSynonym "C1QTNF9B", "c1q- and tumor necrosis factor-related protein 9b", "ctrp9b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387911 ; - skos:exactMatch HGNC_symbol:C1QTNF9B ; + skos:exactMatch UMLS:C3146706, + HGNC:34072, + HGNC_symbol:C1QTNF9B ; biolink:category biolink:Gene . OMIM:614150 a owl:Class ; @@ -323320,8 +336662,6 @@ OMIM:614150 a owl:Class ; PMID:30478137 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:618821 ; - oboInOwl:hasDbXref UMLS:C2828534, - UMLS:C5394173 ; oboInOwl:hasExactSynonym "PKDCC", "protein kinase domain-containing protein, cytoplasmic", "protein kinase domain-containing protein, cytoplasmic, mouse, homolog of", @@ -323329,7 +336669,10 @@ OMIM:614150 a owl:Class ; "vertebrate lonesome kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91461 ; - skos:exactMatch HGNC_symbol:PKDCC ; + skos:exactMatch UMLS:C2828534, + UMLS:C5394173, + HGNC:25123, + HGNC_symbol:PKDCC ; biolink:category biolink:Gene . OMIM:614151 a owl:Class ; @@ -323340,12 +336683,13 @@ OMIM:614151 a owl:Class ; PMID:28691929 ; RO:0002525 CHR:9606chr16q23.1 ; RO:0003303 OMIM:617784 ; - oboInOwl:hasDbXref UMLS:C1538832 ; oboInOwl:hasExactSynonym "RFWD3", "ring finger and wd repeat domains-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55159 ; - skos:exactMatch HGNC_symbol:RFWD3 ; + skos:exactMatch UMLS:C1538832, + HGNC:25539, + HGNC_symbol:RFWD3 ; biolink:category biolink:Gene . OMIM:614154 a owl:Class ; @@ -323356,27 +336700,29 @@ OMIM:614154 a owl:Class ; PMID:9372940 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:614153 ; - oboInOwl:hasDbXref UMLS:C2678521 ; oboInOwl:hasExactSynonym "NOP56", "nop56 ribonuclear protein", "nop56, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10528 ; - skos:exactMatch HGNC_symbol:NOP56 ; + skos:exactMatch UMLS:C2678521, + HGNC:15911, + HGNC_symbol:NOP56 ; biolink:category biolink:Gene . OMIM:614155 a owl:Class ; rdfs:label "MIR1292" ; IAO:0000142 PMID:18285502, PMID:21683323 ; - oboInOwl:hasDbXref UMLS:C2681776 ; oboInOwl:hasExactSynonym "MIR1292", "micro RNA 1292", "mirn1292", "mirna1292" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100302138 ; - skos:exactMatch HGNC_symbol:MIR1292 ; + skos:exactMatch UMLS:C2681776, + HGNC:35364, + HGNC_symbol:MIR1292 ; biolink:category biolink:Gene . OMIM:614157 a owl:Class ; @@ -323389,12 +336735,13 @@ OMIM:614159 a owl:Class ; PMID:22539872 ; RO:0002525 CHR:9606chr1p22.2 ; RO:0003303 OMIM:614167 ; - oboInOwl:hasDbXref UMLS:C1538214 ; oboInOwl:hasExactSynonym "ZNF644", "zinc finger protein 644" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84146 ; - skos:exactMatch HGNC_symbol:ZNF644 ; + skos:exactMatch UMLS:C1538214, + HGNC:29222, + HGNC_symbol:ZNF644 ; biolink:category biolink:Gene . OMIM:614161 a owl:Class ; @@ -323410,13 +336757,14 @@ OMIM:614161 a owl:Class ; PMID:8458232 ; RO:0002525 CHR:9606chr4q27 ; RO:0003303 OMIM:614170 ; - oboInOwl:hasDbXref UMLS:C1418876 ; oboInOwl:hasExactSynonym "PRDM5", "pfm2", "pr domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11107 ; - skos:exactMatch HGNC_symbol:PRDM5 ; + skos:exactMatch UMLS:C1418876, + HGNC:9349, + HGNC_symbol:PRDM5 ; biolink:category biolink:Gene . OMIM:614168 a owl:Class ; @@ -323438,15 +336786,16 @@ OMIM:614168 a owl:Class ; PMID:8490617 ; RO:0002525 CHR:9606chr20q13.31 ; RO:0003303 OMIM:261680 ; - oboInOwl:hasDbXref UMLS:C0268194, - UMLS:C1418371 ; oboInOwl:hasExactSynonym "PCK1", "pepck, cytosolic", "pepck1", "phosphoenolpyruvate carboxykinase 1, soluble" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5105 ; - skos:exactMatch HGNC_symbol:PCK1 ; + skos:exactMatch UMLS:C0268194, + UMLS:C1418371, + HGNC:8724, + HGNC_symbol:PCK1 ; biolink:category biolink:Gene . OMIM:614169 a owl:Class ; @@ -323458,13 +336807,14 @@ OMIM:614169 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:139090 ; - oboInOwl:hasDbXref UMLS:C1538045 ; oboInOwl:hasExactSynonym "NBEAL2", "kiaa0540", "neurobeachin-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23218 ; - skos:exactMatch HGNC_symbol:NBEAL2 ; + skos:exactMatch UMLS:C1538045, + HGNC:31928, + HGNC_symbol:NBEAL2 ; biolink:category biolink:Gene . OMIM:614172 a owl:Class ; @@ -323478,7 +336828,6 @@ OMIM:614172 a owl:Class ; PMID:23365458, PMID:24227816, PMID:2543925 ; - oboInOwl:hasDbXref UMLS:C3280030 ; oboInOwl:hasExactSynonym "IMD21", "combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections", "dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency", @@ -323487,56 +336836,61 @@ OMIM:614172 a owl:Class ; "monocytopenia and mycobacterial infection syndrome", "monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3280030 ; biolink:category biolink:Disease . OMIM:614174 a owl:Class ; rdfs:label "MEIG1" ; IAO:0000142 PMID:19805151 ; - oboInOwl:hasDbXref UMLS:C1537684 ; oboInOwl:hasExactSynonym "MEIG1", "meiosis-expressed gene 1, mouse, homolog of", "meiosis/spermiogenesis-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644890 ; - skos:exactMatch HGNC_symbol:MEIG1 ; + skos:exactMatch UMLS:C1537684, + HGNC:23429, + HGNC_symbol:MEIG1 ; biolink:category biolink:Gene . OMIM:614176 a owl:Class ; rdfs:label "ZFYVE28" ; IAO:0000142 PMID:10997877, PMID:19460345 ; - oboInOwl:hasDbXref UMLS:C1428840 ; oboInOwl:hasExactSynonym "ZFYVE28", "kiaa1643", "lst2, c. elegans, ortholog of", "zinc finger fyve domain-containing protein 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57732 ; - skos:exactMatch HGNC_symbol:ZFYVE28 ; + skos:exactMatch UMLS:C1428840, + HGNC:29334, + HGNC_symbol:ZFYVE28 ; biolink:category biolink:Gene . OMIM:614177 a owl:Class ; rdfs:label "EFCAB4A" ; IAO:0000142 PMID:20418871 ; - oboInOwl:hasDbXref UMLS:C1825033 ; oboInOwl:hasExactSynonym "EFCAB4A", "calcium release-activated calcium channel regulator 2b", "ef-hand calcium-binding domain-containing protein 4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283229 ; - skos:exactMatch HGNC_symbol:CRACR2B ; + skos:exactMatch UMLS:C1825033, + HGNC:28703, + HGNC_symbol:CRACR2B ; biolink:category biolink:Gene . OMIM:614178 a owl:Class ; rdfs:label "CRACR2A" ; IAO:0000142 PMID:20418871 ; - oboInOwl:hasDbXref UMLS:C1825034 ; oboInOwl:hasExactSynonym "CRACR2A", "calcium release-activated calcium channel regulator 2a", "ef-hand calcium-binding domain-containing protein 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84766 ; - skos:exactMatch HGNC_symbol:CRACR2A ; + skos:exactMatch UMLS:C1825034, + HGNC:28657, + HGNC_symbol:CRACR2A ; biolink:category biolink:Gene . OMIM:614179 a owl:Class ; @@ -323545,23 +336899,24 @@ OMIM:614179 a owl:Class ; PMID:19755105, PMID:29739947, PMID:30483960 ; - oboInOwl:hasDbXref UMLS:C1825624 ; oboInOwl:hasExactSynonym "ISLR2", "immunoglobulin superfamily containing leucine-rich repeat 2", "kiaa1465", "leucine-rich repeat domain- and immunoglobulin domain-containing axon extension protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57611 ; - skos:exactMatch HGNC_symbol:ISLR2 ; + skos:exactMatch UMLS:C1825624, + HGNC:29286, + HGNC_symbol:ISLR2 ; biolink:category biolink:Gene . OMIM:614180 a owl:Class ; rdfs:label "retinitis pigmentosa 61" ; IAO:0000142 PMID:21310491 ; - oboInOwl:hasDbXref UMLS:C3280041 ; oboInOwl:hasExactSynonym "RP61", "retinitis pigmentosa 61" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3280041 ; biolink:category biolink:Disease . OMIM:614182 a owl:Class ; @@ -323569,14 +336924,15 @@ OMIM:614182 a owl:Class ; IAO:0000142 PMID:10574462, PMID:14680629, PMID:19151727 ; - oboInOwl:hasDbXref UMLS:C1539661 ; oboInOwl:hasExactSynonym "HEG1", "heart development protein with egf-like domains 1", "heart of glass, zebrafish, homolog of, 1", "kiaa1237" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57493 ; - skos:exactMatch HGNC_symbol:HEG1 ; + skos:exactMatch UMLS:C1539661, + HGNC:29227, + HGNC_symbol:HEG1 ; biolink:category biolink:Gene . OMIM:614183 a owl:Class ; @@ -323584,7 +336940,6 @@ OMIM:614183 a owl:Class ; IAO:0000142 PMID:11853319, PMID:20531386, PMID:20531389 ; - oboInOwl:hasDbXref UMLS:C1824941 ; oboInOwl:hasExactSynonym "DIS3L", "dis3 mitotic control, s. cerevisiae, homolog-like", "dis3-like exonuclease 1", @@ -323592,7 +336947,9 @@ OMIM:614183 a owl:Class ; "kiaa1955" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115752 ; - skos:exactMatch HGNC_symbol:DIS3L ; + skos:exactMatch UMLS:C1824941, + HGNC:28698, + HGNC_symbol:DIS3L ; biolink:category biolink:Gene . OMIM:614184 a owl:Class ; @@ -323606,23 +336963,24 @@ OMIM:614184 a owl:Class ; PMID:6093533 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:267000 ; - oboInOwl:hasDbXref UMLS:C2239353 ; oboInOwl:hasExactSynonym "DIS3L2", "dis3 mitotic control, s. cerevisiae, homolog-like 2", "dis3-like 3-prime-5-prime exoribonuclease 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129563 ; - skos:exactMatch HGNC_symbol:DIS3L2 ; + skos:exactMatch UMLS:C2239353, + HGNC:28648, + HGNC_symbol:DIS3L2 ; biolink:category biolink:Gene . OMIM:614185 a owl:Class ; rdfs:label "geleophysic dysplasia 2" ; IAO:0000142 PMID:21683322, PMID:26860060 ; - oboInOwl:hasDbXref UMLS:C3280054 ; oboInOwl:hasExactSynonym "GPHYSD2", "geleophysic dysplasia 2" ; rdfs:subClassOf OMIMPS:231050 ; + skos:exactMatch UMLS:C3280054 ; biolink:category biolink:Disease . OMIM:614186 a owl:Class ; @@ -323630,32 +336988,33 @@ OMIM:614186 a owl:Class ; IAO:0000142 PMID:21763485, PMID:25475713, PMID:25921210 ; - oboInOwl:hasDbXref UMLS:C3280062 ; oboInOwl:hasExactSynonym "LCA16", "leber congenital amaurosis 16" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C3280062 ; biolink:category biolink:Disease . OMIM:614189 a owl:Class ; rdfs:label "GOLGA7B" ; IAO:0000142 PMID:17074475 ; - oboInOwl:hasDbXref UMLS:C1539013 ; oboInOwl:hasExactSynonym "GOLGA7B", "chromosome 10 open reading frame 132", "golgin a7 family, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401647 ; - skos:exactMatch HGNC_symbol:GOLGA7B ; + skos:exactMatch UMLS:C1539013, + HGNC:31668, + HGNC_symbol:GOLGA7B ; biolink:category biolink:Gene . OMIM:614190 a owl:Class ; rdfs:label "pigmented nodular adrenocortical disease, primary, 3" ; IAO:0000142 PMID:18272904 ; - oboInOwl:hasDbXref UMLS:C3280094 ; oboInOwl:hasExactSynonym "PPNAD3", "cushing syndrome, adrenal, due to ppnad3", "pigmented nodular adrenocortical disease, primary, 3" ; rdfs:subClassOf OMIMPS:610489 ; + skos:exactMatch UMLS:C3280094 ; biolink:category biolink:Disease . OMIM:614191 a owl:Class ; @@ -323681,13 +337040,14 @@ OMIM:614191 a owl:Class ; PMID:9851433 ; RO:0002525 CHR:9606chr22q12.2-q12.3 ; RO:0003303 OMIM:604364 ; - oboInOwl:hasDbXref UMLS:C1539268 ; oboInOwl:hasExactSynonym "DEPDC5", "dep domain-containing protein 5", "kiaa0645" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9681 ; - skos:exactMatch HGNC_symbol:DEPDC5 ; + skos:exactMatch UMLS:C1539268, + HGNC:18423, + HGNC_symbol:DEPDC5 ; biolink:category biolink:Gene . OMIM:614192 a owl:Class ; @@ -323698,9 +337058,9 @@ OMIM:614193 a owl:Class ; rdfs:label "transferrin serum level quantitative trait locus 2" ; IAO:0000142 PMID:19084217, PMID:23794717 ; - oboInOwl:hasDbXref UMLS:C3280096 ; oboInOwl:hasExactSynonym "TFQTL2", "transferrin serum level quantitative trait locus 2" ; + skos:exactMatch UMLS:C3280096 ; biolink:category biolink:Disease . OMIM:614194 a owl:Class ; @@ -323715,21 +337075,22 @@ OMIM:614194 a owl:Class ; PMID:8849019 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:614219 ; - oboInOwl:hasDbXref UMLS:C1426077 ; oboInOwl:hasExactSynonym "DOCK6", "dedicator of cytokinesis 6", "kiaa1395" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57572 ; - skos:exactMatch HGNC_symbol:DOCK6 ; + skos:exactMatch UMLS:C1426077, + HGNC:19189, + HGNC_symbol:DOCK6 ; biolink:category biolink:Gene . OMIM:614195 a owl:Class ; rdfs:label "craniofacial anomalies and anterior segment dysgenesis syndrome" ; IAO:0000142 PMID:15051220 ; - oboInOwl:hasDbXref UMLS:C3280099 ; oboInOwl:hasExactSynonym "CAASDS", "craniofacial anomalies and anterior segment dysgenesis syndrome" ; + skos:exactMatch UMLS:C3280099 ; biolink:category biolink:Disease . OMIM:614197 a owl:Class ; @@ -323738,24 +337099,25 @@ OMIM:614197 a owl:Class ; PMID:21685888, PMID:27642048, PMID:29626093 ; - oboInOwl:hasDbXref UMLS:C1824637 ; oboInOwl:hasExactSynonym "MCU", "coiled-coil domain-containing protein 109a", "mitochondrial calcium uniporter" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90550 ; - skos:exactMatch HGNC_symbol:MCU ; + skos:exactMatch UMLS:C1824637, + HGNC:23526, + HGNC_symbol:MCU ; biolink:category biolink:Gene . OMIM:614198 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 16" ; IAO:0000142 PMID:12766226, PMID:25707578 ; - oboInOwl:hasDbXref UMLS:C3280112 ; oboInOwl:hasExactSynonym "CMS16", "myasthenic syndrome, congenital, 16", "myasthenic syndrome, congenital, acetazolamide-responsive" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C3280112 ; biolink:category biolink:Disease . OMIM:614199 a owl:Class ; @@ -323764,10 +337126,10 @@ OMIM:614199 a owl:Class ; PMID:19251977, PMID:21236492, PMID:7670489 ; - oboInOwl:hasDbXref UMLS:C3280113 ; oboInOwl:hasExactSynonym "NPHS5", "nephrotic syndrome, iia 5, with or without ocular abnormalities" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C3280113 ; biolink:category biolink:Disease . OMIM:614206 a owl:Class ; @@ -323776,7 +337138,6 @@ OMIM:614206 a owl:Class ; PMID:19858291, PMID:20688955, PMID:27626380 ; - oboInOwl:hasDbXref UMLS:C1823221 ; oboInOwl:hasExactSynonym "CHTOP", "chromatin target of prmt1", "chromosome 1 open reading frame 77", @@ -323784,38 +337145,41 @@ OMIM:614206 a owl:Class ; "small protein rich 1n arginine and glycine" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26097 ; - skos:exactMatch HGNC_symbol:CHTOP ; + skos:exactMatch UMLS:C1823221, + HGNC:24511, + HGNC_symbol:CHTOP ; biolink:category biolink:Gene . OMIM:614209 a owl:Class ; rdfs:label "meckel syndrome, iia 9" ; IAO:0000142 PMID:21493627 ; - oboInOwl:hasDbXref UMLS:C3280155 ; oboInOwl:hasExactSynonym "MKS9", "meckel syndrome, iia 9" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C3280155 ; biolink:category biolink:Disease . OMIM:614213 a owl:Class ; rdfs:label "neuropathy, hereditary sensory, iia 2c" ; IAO:0000142 PMID:21820098 ; - oboInOwl:hasDbXref UMLS:C3280168 ; oboInOwl:hasExactSynonym "HSN2C", "neuropathy, hereditary sensory, iia 2c" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C3280168 ; biolink:category biolink:Disease . OMIM:614214 a owl:Class ; rdfs:label "KLHL6" ; IAO:0000142 PMID:11214971, PMID:12617994 ; - oboInOwl:hasDbXref UMLS:C1425680 ; oboInOwl:hasExactSynonym "KLHL6", "flj00029", "kelch-like 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89857 ; - skos:exactMatch HGNC_symbol:KLHL6 ; + skos:exactMatch UMLS:C1425680, + HGNC:18653, + HGNC_symbol:KLHL6 ; biolink:category biolink:Gene . OMIM:614215 a owl:Class ; @@ -323830,43 +337194,46 @@ OMIM:614215 a owl:Class ; PMID:31880396 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:616867 ; - oboInOwl:hasDbXref UMLS:C1428365, - UMLS:C3277074, - UMLS:C4225176 ; oboInOwl:hasExactSynonym "ASCC1", "activating signal cointegrator 1 complex, subunit 1", "asc1 complex, 50-kd subunit", "p50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51008 ; - skos:exactMatch HGNC_symbol:ASCC1 ; + skos:exactMatch UMLS:C1428365, + UMLS:C3277074, + UMLS:C4225176, + HGNC:24268, + HGNC_symbol:ASCC1 ; biolink:category biolink:Gene . OMIM:614216 a owl:Class ; rdfs:label "ASCC2" ; IAO:0000142 PMID:12077347, PMID:29144457 ; - oboInOwl:hasDbXref UMLS:C1540205 ; oboInOwl:hasExactSynonym "ASCC2", "activating signal cointegrator 1 complex, subunit 2", "asc1 complex, 100-kd subunit", "p100" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84164 ; - skos:exactMatch HGNC_symbol:ASCC2 ; + skos:exactMatch UMLS:C1540205, + HGNC:24103, + HGNC_symbol:ASCC2 ; biolink:category biolink:Gene . OMIM:614217 a owl:Class ; rdfs:label "ASCC3" ; IAO:0000142 PMID:12077347 ; - oboInOwl:hasDbXref UMLS:C1540206 ; oboInOwl:hasExactSynonym "ASCC3", "activating signal cointegrator 1 complex, subunit 3", "asc1 complex subunit, 200-kd subunit", "p200" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10973 ; - skos:exactMatch HGNC_symbol:ASCC3 ; + skos:exactMatch UMLS:C1540206, + HGNC:18697, + HGNC_symbol:ASCC3 ; biolink:category biolink:Gene . OMIM:614218 a owl:Class ; @@ -323881,25 +337248,26 @@ OMIM:614218 a owl:Class ; PMID:28556411 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:617967 ; - oboInOwl:hasDbXref UMLS:C1823844 ; oboInOwl:hasExactSynonym "WDR81", "sorf2, c. elegans, homolog of", "wd repeat-containing protein 81" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124997 ; - skos:exactMatch HGNC_symbol:WDR81 ; + skos:exactMatch UMLS:C1823844, + HGNC:26600, + HGNC_symbol:WDR81 ; biolink:category biolink:Gene . OMIM:614228 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2o" ; IAO:0000142 PMID:12730604, PMID:21820100 ; - oboInOwl:hasDbXref UMLS:C3280220 ; oboInOwl:hasExactSynonym "CMT2O", "charcot-marie-tooth disease, axonal, iia 2o", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2o", "charcot-marie-tooth neuropathy, axonal, iia 2o" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3280220 ; biolink:category biolink:Disease . OMIM:614230 a owl:Class ; @@ -323908,9 +337276,9 @@ OMIM:614230 a owl:Class ; PMID:16946494, PMID:21802062 ; RO:0002525 CHR:9606chr8q21.11 ; - oboInOwl:hasDbXref UMLS:C3280231, - ORPHA:284160 ; oboInOwl:hasExactSynonym "chromosome 8q21.11 deletion syndrome" ; + skos:exactMatch UMLS:C3280231, + ORPHA:284160 ; biolink:category biolink:Disease . OMIM:614232 a owl:Class ; @@ -323950,7 +337318,6 @@ OMIM:614232 a owl:Class ; PMID:9851783 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:218030 ; - oboInOwl:hasDbXref UMLS:C1857550 ; oboInOwl:hasExactSynonym "11-beta-hsd", "11-beta-hydroxysteroid dehydrogenase, iia 2", "HSD11B2", @@ -323958,7 +337325,9 @@ OMIM:614232 a owl:Class ; "hsd11, kidney and placental iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3291 ; - skos:exactMatch HGNC_symbol:HSD11B2 ; + skos:exactMatch UMLS:C1857550, + HGNC:5209, + HGNC_symbol:HSD11B2 ; biolink:category biolink:Gene . OMIM:614233 a owl:Class ; @@ -323966,23 +337335,24 @@ OMIM:614233 a owl:Class ; IAO:0000142 PMID:16709486 ; RO:0002525 CHR:9606chr19pter-p13.1 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C2681535 ; oboInOwl:hasExactSynonym "FPH1", "fph", "hyperpigmentation, familial progressive, 1" ; + skos:exactMatch UMLS:C2681535 ; biolink:category biolink:Disease . OMIM:614234 a owl:Class ; rdfs:label "PIFO" ; IAO:0000142 PMID:20643351 ; - oboInOwl:hasDbXref UMLS:C1823708 ; oboInOwl:hasExactSynonym "PIFO", "chromosome 1 open reading frame 88", "pitchfork, mouse, homolog of", "primary cilia formation" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128344 ; - skos:exactMatch HGNC_symbol:PIFO ; + skos:exactMatch UMLS:C1823708, + HGNC:27009, + HGNC_symbol:PIFO ; biolink:category biolink:Gene . OMIM:614235 a owl:Class ; @@ -323990,31 +337360,32 @@ OMIM:614235 a owl:Class ; IAO:0000142 PMID:20573829, PMID:21549406, PMID:29097544 ; - oboInOwl:hasDbXref UMLS:C1428638 ; oboInOwl:hasExactSynonym "PDZD8", "pdz domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118987 ; - skos:exactMatch HGNC_symbol:PDZD8 ; + skos:exactMatch UMLS:C1428638, + HGNC:26974, + HGNC_symbol:PDZD8 ; biolink:category biolink:Gene . OMIM:614236 a owl:Class ; rdfs:label "SLC38A7" ; IAO:0000142 PMID:21511949 ; - oboInOwl:hasDbXref UMLS:C2239930 ; oboInOwl:hasExactSynonym "SLC38A7", "sodium-coupled neutral amino acid transporter 7", "solute carrier family 38 (amino acid transporter), member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55238 ; - skos:exactMatch HGNC_symbol:SLC38A7 ; + skos:exactMatch UMLS:C2239930, + HGNC:25582, + HGNC_symbol:SLC38A7 ; biolink:category biolink:Gene . OMIM:614239 a owl:Class ; rdfs:label "PHETA1" ; IAO:0000142 PMID:20133602, PMID:21233288 ; - oboInOwl:hasDbXref UMLS:C1825239 ; oboInOwl:hasExactSynonym "PHETA1", "family with sequence similarity 109, member a", "inositol polyphosphate phosphatase-interacting protein, 27-kd, a", @@ -324022,14 +337393,15 @@ OMIM:614239 a owl:Class ; "sesquipedalian, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144717 ; - skos:exactMatch HGNC_symbol:PHETA1 ; + skos:exactMatch UMLS:C1825239, + HGNC:26509, + HGNC_symbol:PHETA1 ; biolink:category biolink:Gene . OMIM:614240 a owl:Class ; rdfs:label "PHETA2" ; IAO:0000142 PMID:20133602, PMID:21233288 ; - oboInOwl:hasDbXref UMLS:C1825240 ; oboInOwl:hasExactSynonym "PHETA2", "family with sequence similarity 109, member B", "inositol polyphosphate phosphatase-interacting protein, 27-kd, B", @@ -324037,7 +337409,9 @@ OMIM:614240 a owl:Class ; "sesquipedalian, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150368 ; - skos:exactMatch HGNC_symbol:PHETA2 ; + skos:exactMatch UMLS:C1825240, + HGNC:27161, + HGNC_symbol:PHETA2 ; biolink:category biolink:Gene . OMIM:614241 a owl:Class ; @@ -324045,14 +337419,15 @@ OMIM:614241 a owl:Class ; IAO:0000142 PMID:15152008, PMID:16620771, PMID:19075029 ; - oboInOwl:hasDbXref UMLS:C1537626 ; oboInOwl:hasExactSynonym "1-acylglycerol-3-phosphate o-acyltransferase 8", "LCLAT1", "acyl-coa:lysocardiolipin acyltransferase 1", "lysocardiolipin acyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253558 ; - skos:exactMatch HGNC_symbol:LCLAT1 ; + skos:exactMatch UMLS:C1537626, + HGNC:26756, + HGNC_symbol:LCLAT1 ; biolink:category biolink:Gene . OMIM:614242 a owl:Class ; @@ -324060,13 +337435,14 @@ OMIM:614242 a owl:Class ; IAO:0000142 PMID:10510291, PMID:12739169, PMID:21886157 ; - oboInOwl:hasDbXref UMLS:C1428121 ; oboInOwl:hasExactSynonym "SLC16A9", "monocarboxylate transporter 9", "solute carrier family 16 (monocarboxylic acid transporter), member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220963 ; - skos:exactMatch HGNC_symbol:SLC16A9 ; + skos:exactMatch UMLS:C1428121, + HGNC:23520, + HGNC_symbol:SLC16A9 ; biolink:category biolink:Gene . OMIM:614243 a owl:Class ; @@ -324078,25 +337454,27 @@ OMIM:614243 a owl:Class ; PMID:27477828 ; RO:0002525 CHR:9606chr8q24.3 ; RO:0003303 OMIM:260005 ; - oboInOwl:hasDbXref UMLS:C1417961 ; oboInOwl:hasExactSynonym "5-oxo-l-prolinase", "5-oxoprolinase (atp-hydrolyzing)", "OPLAH" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26873 ; - skos:exactMatch HGNC_symbol:OPLAH ; + skos:exactMatch UMLS:C1417961, + HGNC:8149, + HGNC_symbol:OPLAH ; biolink:category biolink:Gene . OMIM:614244 a owl:Class ; rdfs:label "PDXDC1" ; IAO:0000142 PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C2239806 ; oboInOwl:hasExactSynonym "PDXDC1", "kiaa0251", "pyridoxal-dependent decarboxylase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23042 ; - skos:exactMatch HGNC_symbol:PDXDC1 ; + skos:exactMatch UMLS:C2239806, + HGNC:28995, + HGNC_symbol:PDXDC1 ; biolink:category biolink:Gene . OMIM:614245 a owl:Class ; @@ -324106,45 +337484,47 @@ OMIM:614245 a owl:Class ; PMID:21846720 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:614265 ; - oboInOwl:hasDbXref UMLS:C2240360 ; oboInOwl:hasExactSynonym "ACSF3", "acyl-coa synthetase family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197322 ; - skos:exactMatch HGNC_symbol:ACSF3 ; + skos:exactMatch UMLS:C2240360, + HGNC:27288, + HGNC_symbol:ACSF3 ; biolink:category biolink:Gene . OMIM:614246 a owl:Class ; rdfs:label "NAA60" ; IAO:0000142 PMID:21593219, PMID:21750686 ; - oboInOwl:hasDbXref UMLS:C2681858 ; oboInOwl:hasExactSynonym "NAA60", "n-alpha-acetyltransferase 60, natf catalytic subunit", "nat15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79903 ; - skos:exactMatch HGNC_symbol:NAA60 ; + skos:exactMatch UMLS:C2681858, + HGNC:25875, + HGNC_symbol:NAA60 ; biolink:category biolink:Gene . OMIM:614247 a owl:Class ; rdfs:label "MIR519D" ; IAO:0000142 PMID:21524841 ; - oboInOwl:hasDbXref UMLS:C1826094 ; oboInOwl:hasExactSynonym "MIR519D", "micro RNA 519d", "mirn519d", "mirna519d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574480 ; - skos:exactMatch HGNC_symbol:MIR519D ; + skos:exactMatch UMLS:C1826094, + HGNC:32112, + HGNC_symbol:MIR519D ; biolink:category biolink:Gene . OMIM:614248 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:12056414, PMID:20534451 ; - oboInOwl:hasDbXref UMLS:C3280264 ; oboInOwl:hasExactSynonym "kiaa2002", "nkf3 kinase family member", "peak1", @@ -324152,7 +337532,9 @@ OMIM:614248 a owl:Class ; "sgk269" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79834 ; - skos:exactMatch HGNC_symbol:PEAK1 ; + skos:exactMatch UMLS:C3280264, + HGNC:29431, + HGNC_symbol:PEAK1 ; biolink:category biolink:Gene . OMIM:614253 a owl:Class ; @@ -324166,11 +337548,11 @@ OMIM:614254 a owl:Class ; PMID:27164704, PMID:28228639, PMID:29365063 ; - oboInOwl:hasDbXref UMLS:C3280282, - ORPHA:178469 ; oboInOwl:hasExactSynonym "NDHMSD", "mental retardation, autosomal dominant 8, formerly", "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" ; + skos:exactMatch UMLS:C3280282, + ORPHA:178469 ; biolink:category biolink:Disease . OMIM:614255 a owl:Class ; @@ -324185,12 +337567,12 @@ OMIM:614255 a owl:Class ; PMID:30385166, PMID:31805580, PMID:32096284 ; - oboInOwl:hasDbXref UMLS:C5393830, - ORPHA:178469 ; oboInOwl:hasExactSynonym "NESCAVS", "mental retardation, autosomal dominant 9, formerly", "nescav syndrome", "neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment" ; + skos:exactMatch UMLS:C5393830, + ORPHA:178469 ; biolink:category biolink:Disease . OMIM:614258 a owl:Class ; @@ -324215,7 +337597,6 @@ OMIM:614258 a owl:Class ; PMID:9331371 ; RO:0002525 CHR:9606chr10q22.3 ; RO:0003303 OMIM:264090 ; - oboInOwl:hasDbXref UMLS:C1538695 ; oboInOwl:hasExactSynonym "POLR3A", "RNA polymerase iii, 155-kd subunit", "RNA polymerase iii, subunit c1", @@ -324223,19 +337604,22 @@ OMIM:614258 a owl:Class ; "rpc155" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11128 ; - skos:exactMatch HGNC_symbol:POLR3A ; + skos:exactMatch UMLS:C1538695, + HGNC:30074, + HGNC_symbol:POLR3A ; biolink:category biolink:Gene . OMIM:614259 a owl:Class ; rdfs:label "CFAP57" ; IAO:0000142 PMID:21574244 ; - oboInOwl:hasDbXref UMLS:C1823829 ; oboInOwl:hasExactSynonym "CFAP57", "cilia- and flagella-associated protein 57", "wd repeat-containing protein 65" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149465 ; - skos:exactMatch HGNC_symbol:CFAP57 ; + skos:exactMatch UMLS:C1823829, + HGNC:26485, + HGNC_symbol:CFAP57 ; biolink:category biolink:Gene . OMIM:614260 a owl:Class ; @@ -324275,78 +337659,84 @@ OMIM:614260 a owl:Class ; PMID:32848248 ; RO:0002525 CHR:9606chr9p21.2 ; RO:0003303 OMIM:105550 ; - oboInOwl:hasDbXref UMLS:C1428691, - UMLS:C3888102 ; oboInOwl:hasExactSynonym "C9ORF72", "chromosome 9 open reading frame 72" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203228 ; - skos:exactMatch HGNC_symbol:C9orf72 ; + skos:exactMatch UMLS:C1428691, + UMLS:C3888102, + HGNC:28337, + HGNC_symbol:C9orf72 ; biolink:category biolink:Gene . OMIM:614262 a owl:Class ; rdfs:label "arthrogryposis, perthes disease, and upward gaze palsy" ; IAO:0000142 PMID:21271645, PMID:26633546 ; - oboInOwl:hasDbXref UMLS:C3280309 ; oboInOwl:hasExactSynonym "APUG", "arthrogryposis, perthes disease, and upward gaze palsy" ; + skos:exactMatch UMLS:C3280309 ; biolink:category biolink:Disease . OMIM:614263 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:18587408, PMID:21785702 ; - oboInOwl:hasDbXref UMLS:C3280313 ; oboInOwl:hasExactSynonym "bace1 antisense rna: bace1as" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100379571 ; - skos:exactMatch HGNC_symbol:BACE1-AS ; + skos:exactMatch UMLS:C3280313, + HGNC:37125, + HGNC_symbol:BACE1-AS ; biolink:category biolink:Gene . OMIM:614264 a owl:Class ; rdfs:label "ARHGAP30" ; IAO:0000142 PMID:21565175 ; - oboInOwl:hasDbXref UMLS:C1824199 ; oboInOwl:hasExactSynonym "ARHGAP30", "rho gtpase-activating protein 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257106 ; - skos:exactMatch HGNC_symbol:ARHGAP30 ; + skos:exactMatch UMLS:C1824199, + HGNC:27414, + HGNC_symbol:ARHGAP30 ; biolink:category biolink:Gene . OMIM:614267 a owl:Class ; rdfs:label "ACOT6" ; IAO:0000142 PMID:16940157 ; - oboInOwl:hasDbXref UMLS:C1825830 ; oboInOwl:hasExactSynonym "ACOT6", "acyl-coa thioesterase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641372 ; - skos:exactMatch HGNC_symbol:ACOT6 ; + skos:exactMatch UMLS:C1825830, + HGNC:33159, + HGNC_symbol:ACOT6 ; biolink:category biolink:Gene . OMIM:614268 a owl:Class ; rdfs:label "ADGRF4" ; IAO:0000142 PMID:12435584 ; - oboInOwl:hasDbXref UMLS:C1425949 ; oboInOwl:hasExactSynonym "ADGRF4", "adhesion g protein-coupled receptor f4", "g protein-coupled receptor 115" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221393 ; - skos:exactMatch HGNC_symbol:ADGRF4 ; + skos:exactMatch UMLS:C1425949, + HGNC:19011, + HGNC_symbol:ADGRF4 ; biolink:category biolink:Gene . OMIM:614269 a owl:Class ; rdfs:label "GPR153" ; IAO:0000142 PMID:15777626 ; - oboInOwl:hasDbXref UMLS:C1428164 ; oboInOwl:hasExactSynonym "GPR153", "g protein-coupled receptor 153" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387509 ; - skos:exactMatch HGNC_symbol:GPR153 ; + skos:exactMatch UMLS:C1428164, + HGNC:23618, + HGNC_symbol:GPR153 ; biolink:category biolink:Gene . OMIM:614270 a owl:Class ; @@ -324360,66 +337750,72 @@ OMIM:614270 a owl:Class ; PMID:33472045 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:618664 ; - oboInOwl:hasDbXref UMLS:C1824636, - UMLS:C5231451 ; oboInOwl:hasExactSynonym "CFAP65", "cilia- and flagella-associated protein 65", "coiled-coil domain-containing protein 108" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255101 ; - skos:exactMatch HGNC_symbol:CFAP65 ; + skos:exactMatch UMLS:C1824636, + UMLS:C5231451, + HGNC:25325, + HGNC_symbol:CFAP65 ; biolink:category biolink:Gene . OMIM:614271 a owl:Class ; rdfs:label "CCDC137" ; - oboInOwl:hasDbXref UMLS:C2240342 ; oboInOwl:hasExactSynonym "CCDC137", "coiled-coil domain-containing protein 137" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339230 ; - skos:exactMatch HGNC_symbol:CCDC137 ; + skos:exactMatch UMLS:C2240342, + HGNC:33451, + HGNC_symbol:CCDC137 ; biolink:category biolink:Gene . OMIM:614272 a owl:Class ; rdfs:label "FASTKD5" ; IAO:0000142 PMID:20869947 ; - oboInOwl:hasDbXref UMLS:C1825282 ; oboInOwl:hasExactSynonym "FASTKD5", "fast kinase domain-containing protein 5", "fast kinase domains 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60493 ; - skos:exactMatch HGNC_symbol:FASTKD5 ; + skos:exactMatch UMLS:C1825282, + HGNC:25790, + HGNC_symbol:FASTKD5 ; biolink:category biolink:Gene . OMIM:614273 a owl:Class ; rdfs:label "OR4C46" ; - oboInOwl:hasDbXref UMLS:C1429127 ; oboInOwl:hasExactSynonym "OR4C46", "olfactory receptor, family 4, subfamily c, member 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119749 ; - skos:exactMatch HGNC_symbol:OR4C46 ; + skos:exactMatch UMLS:C1429127, + HGNC:31271, + HGNC_symbol:OR4C46 ; biolink:category biolink:Gene . OMIM:614274 a owl:Class ; rdfs:label "SBNO1" ; - oboInOwl:hasDbXref UMLS:C1427826 ; oboInOwl:hasExactSynonym "SBNO1", "strawberry notch, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55206 ; - skos:exactMatch HGNC_symbol:SBNO1 ; + skos:exactMatch UMLS:C1427826, + HGNC:22973, + HGNC_symbol:SBNO1 ; biolink:category biolink:Gene . OMIM:614275 a owl:Class ; rdfs:label "ZNF565" ; - oboInOwl:hasDbXref UMLS:C1428622 ; oboInOwl:hasExactSynonym "ZNF565", "zinc finger protein 565" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147929 ; - skos:exactMatch HGNC_symbol:ZNF565 ; + skos:exactMatch UMLS:C1428622, + HGNC:26726, + HGNC_symbol:ZNF565 ; biolink:category biolink:Gene . OMIM:614276 a owl:Class ; @@ -324427,27 +337823,29 @@ OMIM:614276 a owl:Class ; IAO:0000142 PMID:10470851, PMID:10581172, PMID:21757756 ; - oboInOwl:hasDbXref UMLS:C1418639 ; oboInOwl:hasExactSynonym "PLCL2", "kiaa1092", "phospholipase c-like 2", "phospholipase c-related catalytically inactive protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23228 ; - skos:exactMatch HGNC_symbol:PLCL2 ; + skos:exactMatch UMLS:C1418639, + HGNC:9064, + HGNC_symbol:PLCL2 ; biolink:category biolink:Gene . OMIM:614277 a owl:Class ; rdfs:label "UBE2W" ; IAO:0000142 PMID:16368532, PMID:21229326 ; - oboInOwl:hasDbXref UMLS:C1823575 ; oboInOwl:hasExactSynonym "UBE2W", "ubc16, arabidopsis, homolog of", "ubiquitin-conjugating enzyme 2w" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55284 ; - skos:exactMatch HGNC_symbol:UBE2W ; + skos:exactMatch UMLS:C1823575, + HGNC:25616, + HGNC_symbol:UBE2W ; biolink:category biolink:Gene . OMIM:614278 a owl:Class ; @@ -324459,21 +337857,22 @@ OMIM:614278 a owl:Class ; PMID:8675676, PMID:8675689, PMID:9412624 ; - oboInOwl:hasDbXref UMLS:C3280315 ; oboInOwl:hasExactSynonym "PAFAD", "platelet-activating factor acetylhydrolase deficiency" ; + skos:exactMatch UMLS:C3280315 ; biolink:category biolink:Disease . OMIM:614281 a owl:Class ; rdfs:label "ESAM" ; IAO:0000142 PMID:11847224 ; - oboInOwl:hasDbXref UMLS:C1424976 ; oboInOwl:hasExactSynonym "ESAM", "endothelial cell adhesion molecule", "endothelial cell-selective adhesion molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90952 ; - skos:exactMatch HGNC_symbol:ESAM ; + skos:exactMatch UMLS:C1424976, + HGNC:17474, + HGNC_symbol:ESAM ; biolink:category biolink:Gene . OMIM:614282 a owl:Class ; @@ -324481,13 +337880,14 @@ OMIM:614282 a owl:Class ; IAO:0000142 PMID:18355758, PMID:8609160, PMID:9254016 ; - oboInOwl:hasDbXref UMLS:C1822659 ; oboInOwl:hasExactSynonym "SDF4", "calcium-binding protein, 45-kd", "stromal cell-derived factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51150 ; - skos:exactMatch HGNC_symbol:SDF4 ; + skos:exactMatch UMLS:C1822659, + HGNC:24188, + HGNC_symbol:SDF4 ; biolink:category biolink:Gene . OMIM:614283 a owl:Class ; @@ -324496,70 +337896,75 @@ OMIM:614283 a owl:Class ; PMID:21991891 ; RO:0002525 CHR:9606chr7p21.3 ; RO:0003303 OMIM:614400 ; - oboInOwl:hasDbXref UMLS:C1425732 ; oboInOwl:hasExactSynonym "GLCCI1", "glucocorticoid-induced transcript 1", "thymocyte/spermatocyte selection 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113263 ; - skos:exactMatch HGNC_symbol:GLCCI1 ; + skos:exactMatch UMLS:C1425732, + HGNC:18713, + HGNC_symbol:GLCCI1 ; biolink:category biolink:Gene . OMIM:614284 a owl:Class ; rdfs:label "stickler syndrome, iia 5" ; IAO:0000142 PMID:21671392 ; - oboInOwl:hasDbXref UMLS:C3280342 ; oboInOwl:hasExactSynonym "STL5", "stickler syndrome, iia 5" ; rdfs:subClassOf OMIMPS:108300 ; + skos:exactMatch UMLS:C3280342 ; biolink:category biolink:Disease . OMIM:614285 a owl:Class ; rdfs:label "C1QTNF9" ; IAO:0000142 PMID:18787108 ; - oboInOwl:hasDbXref UMLS:C1823202 ; oboInOwl:hasExactSynonym "C1QTNF9", "c1q- and tumor necrosis factor-related protein 9", "c1qtnf9a", "ctrp9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338872 ; - skos:exactMatch HGNC_symbol:C1QTNF9 ; + skos:exactMatch UMLS:C1823202, + HGNC:28732, + HGNC_symbol:C1QTNF9 ; biolink:category biolink:Gene . OMIM:614287 a owl:Class ; rdfs:label "OFCC1" ; IAO:0000142 PMID:15218257 ; - oboInOwl:hasDbXref UMLS:C1427245 ; oboInOwl:hasExactSynonym "OFCC1", "mrds1", "ofc1 candidate gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266553 ; - skos:exactMatch HGNC_symbol:OFCC1 ; + skos:exactMatch UMLS:C1427245, + HGNC:21017, + HGNC_symbol:OFCC1 ; biolink:category biolink:Gene . OMIM:614288 a owl:Class ; rdfs:label "ACAD11" ; IAO:0000142 PMID:21237683 ; - oboInOwl:hasDbXref UMLS:C1825826 ; oboInOwl:hasExactSynonym "ACAD11", "acyl-coa dehydrogenase family, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84129 ; - skos:exactMatch HGNC_symbol:ACAD11 ; + skos:exactMatch UMLS:C1825826, + HGNC:30211, + HGNC_symbol:ACAD11 ; biolink:category biolink:Gene . OMIM:614289 a owl:Class ; rdfs:label "SEL1L2" ; IAO:0000142 PMID:14729273 ; - oboInOwl:hasDbXref UMLS:C1822672 ; oboInOwl:hasExactSynonym "SEL1L2", "sel1l-like", "suppressor of lin12-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80343 ; - skos:exactMatch HGNC_symbol:SEL1L2 ; + skos:exactMatch UMLS:C1822672, + HGNC:15897, + HGNC_symbol:SEL1L2 ; biolink:category biolink:Gene . OMIM:614290 a owl:Class ; @@ -324567,9 +337972,9 @@ OMIM:614290 a owl:Class ; IAO:0000142 PMID:20803640, PMID:25900901 ; RO:0002525 CHR:9606chr18p ; - oboInOwl:hasDbXref UMLS:C0795868 ; oboInOwl:hasExactSynonym "isochromosome 18p syndrome", "tetrasomy 18p" ; + skos:exactMatch UMLS:C0795868 ; biolink:category biolink:Disease . OMIM:614294 a owl:Class ; @@ -324580,8 +337985,8 @@ OMIM:614294 a owl:Class ; PMID:23239641, PMID:24352913 ; RO:0002525 CHR:9606chr15q25 ; - oboInOwl:hasDbXref UMLS:C3280355 ; oboInOwl:hasExactSynonym "chromosome 15q25 deletion syndrome" ; + skos:exactMatch UMLS:C3280355 ; biolink:category biolink:Disease . OMIM:614295 a owl:Class ; @@ -324595,14 +338000,15 @@ OMIM:614295 a owl:Class ; PMID:21922595 ; RO:0002525 CHR:9606chr10q21.1 ; RO:0003303 OMIM:601331 ; - oboInOwl:hasDbXref UMLS:C1426183 ; oboInOwl:hasExactSynonym "BICC1", "bicaudal c, drosophila, homolog of, 1", "bicc", "bicc family rna-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80114 ; - skos:exactMatch HGNC_symbol:BICC1 ; + skos:exactMatch UMLS:C1426183, + HGNC:19351, + HGNC_symbol:BICC1 ; biolink:category biolink:Gene . OMIM:614296 a owl:Class ; @@ -324612,10 +338018,10 @@ OMIM:614296 a owl:Class ; PMID:18544103, PMID:20069065, PMID:21538838 ; - oboInOwl:hasDbXref UMLS:C3280358 ; oboInOwl:hasExactSynonym "WFSL", "hearing loss, progressive, with optic atrophy and/or impaired glucose regulation", "wolfram-like syndrome, autosomal dominant" ; + skos:exactMatch UMLS:C3280358 ; biolink:category biolink:Disease . OMIM:614297 a owl:Class ; @@ -324633,12 +338039,13 @@ OMIM:614297 a owl:Class ; PMID:31087512 ; RO:0002525 CHR:9606chr19q12 ; RO:0003303 OMIM:614298 ; - oboInOwl:hasDbXref UMLS:C1428487 ; oboInOwl:hasExactSynonym "C19ORF12", "chromosome 19 open reading frame 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83636 ; - skos:exactMatch HGNC_symbol:C19orf12 ; + skos:exactMatch UMLS:C1428487, + HGNC:25443, + HGNC_symbol:C19orf12 ; biolink:category biolink:Gene . OMIM:614301 a owl:Class ; @@ -324646,14 +338053,15 @@ OMIM:614301 a owl:Class ; IAO:0000142 PMID:16121196, PMID:17322884, PMID:21475249 ; - oboInOwl:hasDbXref UMLS:C2239958 ; oboInOwl:hasExactSynonym "ATXN1L", "ataxin 1-like", "brother of ataxin 1", "brother of atxn1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342371 ; - skos:exactMatch HGNC_symbol:ATXN1L ; + skos:exactMatch UMLS:C2239958, + HGNC:33279, + HGNC_symbol:ATXN1L ; biolink:category biolink:Gene . OMIM:614304 a owl:Class ; @@ -324661,23 +338069,24 @@ OMIM:614304 a owl:Class ; IAO:0000142 PMID:18316599, PMID:21278922, PMID:21425146 ; - oboInOwl:hasDbXref UMLS:C1537790 ; oboInOwl:hasExactSynonym "MIR137", "micro RNA 137", "mirn137", "mirna137" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406928 ; - skos:exactMatch HGNC_symbol:MIR137 ; + skos:exactMatch UMLS:C1537790, + HGNC:31523, + HGNC_symbol:MIR137 ; biolink:category biolink:Gene . OMIM:614306 a owl:Class ; rdfs:label "cognitive impairment with or without cerebellar ataxia" ; IAO:0000142 PMID:16236810, PMID:28702509 ; - oboInOwl:hasDbXref UMLS:C3280415 ; oboInOwl:hasExactSynonym "CIAT", "cognitive impairment with or without cerebellar ataxia" ; + skos:exactMatch UMLS:C3280415 ; biolink:category biolink:Disease . OMIM:614307 a owl:Class ; @@ -324688,58 +338097,62 @@ OMIM:614307 a owl:Class ; PMID:18032455, PMID:20821052, PMID:21576695 ; - oboInOwl:hasDbXref UMLS:C3280428 ; oboInOwl:hasExactSynonym "AMACRD", "alpha-methylacyl-coa racemase deficiency", "amacr deficiency" ; + skos:exactMatch UMLS:C3280428 ; biolink:category biolink:Disease . OMIM:614308 a owl:Class ; rdfs:label "FTCDNL1" ; IAO:0000142 PMID:21573128 ; - oboInOwl:hasDbXref UMLS:C3280437 ; oboInOwl:hasExactSynonym "FTCDNL1", "formiminotransferase cyclodeaminase n-terminal-like protein 1", "formiminotransferase n-terminal subdomain-containing gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348751 ; - skos:exactMatch HGNC_symbol:FTCDNL1 ; + skos:exactMatch UMLS:C3280437, + HGNC:48661, + HGNC_symbol:FTCDNL1 ; biolink:category biolink:Gene . OMIM:614309 a owl:Class ; rdfs:label "TRMT44" ; IAO:0000142 PMID:21658913 ; - oboInOwl:hasDbXref UMLS:C1824168 ; oboInOwl:hasExactSynonym "TRMT44", "methyltransferase-like 19", "trna methyltransferase 44 homolog", "trna methyltransferase 44, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152992 ; - skos:exactMatch HGNC_symbol:TRMT44 ; + skos:exactMatch UMLS:C1824168, + HGNC:26653, + HGNC_symbol:TRMT44 ; biolink:category biolink:Gene . OMIM:614310 a owl:Class ; rdfs:label "CEP70" ; IAO:0000142 PMID:21795687 ; - oboInOwl:hasDbXref UMLS:C1824713 ; oboInOwl:hasExactSynonym "CEP70", "centrosomal protein, 70-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80321 ; - skos:exactMatch HGNC_symbol:CEP70 ; + skos:exactMatch UMLS:C1824713, + HGNC:29972, + HGNC_symbol:CEP70 ; biolink:category biolink:Gene . OMIM:614311 a owl:Class ; rdfs:label "SYNDIG1" ; IAO:0000142 PMID:20152115 ; - oboInOwl:hasDbXref UMLS:C1423805 ; oboInOwl:hasExactSynonym "SYNDIG1", "synapse differentiation-induced gene 1", "transmembrane protein 90b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79953 ; - skos:exactMatch HGNC_symbol:SYNDIG1 ; + skos:exactMatch UMLS:C1423805, + HGNC:15885, + HGNC_symbol:SYNDIG1 ; biolink:category biolink:Gene . OMIM:614312 a owl:Class ; @@ -324748,47 +338161,51 @@ OMIM:614312 a owl:Class ; PMID:24431330 ; RO:0002525 CHR:9606chr17p13.2 ; RO:0003303 OMIM:615842 ; - oboInOwl:hasDbXref UMLS:C1427235 ; oboInOwl:hasExactSynonym "ZMYND15", "zinc finger mynd-containing protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84225 ; - skos:exactMatch HGNC_symbol:ZMYND15 ; + skos:exactMatch UMLS:C1427235, + HGNC:20997, + HGNC_symbol:ZMYND15 ; biolink:category biolink:Gene . OMIM:614313 a owl:Class ; rdfs:label "ACOT1" ; IAO:0000142 PMID:16940157, PMID:20846931 ; - oboInOwl:hasDbXref UMLS:C1825827 ; oboInOwl:hasExactSynonym "ACOT1", "acyl-coa thioesterase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641371 ; - skos:exactMatch HGNC_symbol:ACOT1 ; + skos:exactMatch UMLS:C1825827, + HGNC:33128, + HGNC_symbol:ACOT1 ; biolink:category biolink:Gene . OMIM:614314 a owl:Class ; rdfs:label "ACOT4" ; IAO:0000142 PMID:16940157 ; - oboInOwl:hasDbXref UMLS:C1825829 ; oboInOwl:hasExactSynonym "ACOT4", "acyl-coa thioesterase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122970 ; - skos:exactMatch HGNC_symbol:ACOT4 ; + skos:exactMatch UMLS:C1825829, + HGNC:19748, + HGNC_symbol:ACOT4 ; biolink:category biolink:Gene . OMIM:614315 a owl:Class ; rdfs:label "ACOT12" ; IAO:0000142 PMID:16951743 ; - oboInOwl:hasDbXref UMLS:C1825835 ; oboInOwl:hasExactSynonym "ACOT12", "acyl-coa thioesterase 12", "cytosolic acetyl-coa hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134526 ; - skos:exactMatch HGNC_symbol:ACOT12 ; + skos:exactMatch UMLS:C1825835, + HGNC:24436, + HGNC_symbol:ACOT12 ; biolink:category biolink:Gene . OMIM:614316 a owl:Class ; @@ -324796,7 +338213,6 @@ OMIM:614316 a owl:Class ; IAO:0000142 PMID:19138172, PMID:21892161, PMID:9705316 ; - oboInOwl:hasDbXref UMLS:C1425079 ; oboInOwl:hasExactSynonym "VTI1A", "vesicle transport through interaction with t-snares 1a", "vti1, s. cerevisiae, homolog of, a", @@ -324804,7 +338220,9 @@ OMIM:614316 a owl:Class ; "vti1rp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143187 ; - skos:exactMatch HGNC_symbol:VTI1A ; + skos:exactMatch UMLS:C1425079, + HGNC:17792, + HGNC_symbol:VTI1A ; biolink:category biolink:Gene . OMIM:614321 a owl:Class ; @@ -324812,9 +338230,10 @@ OMIM:614321 a owl:Class ; IAO:0000142 PMID:11805270, PMID:15580566, PMID:18930476 ; - oboInOwl:hasDbXref UMLS:C3280443 ; oboInOwl:hasExactSynonym "MPDT", "myopathy, distal, tateyama iia" ; + rdfs:subClassOf OMIMPS:160500 ; + skos:exactMatch UMLS:C3280443 ; biolink:category biolink:Disease . OMIM:614323 a owl:Class ; @@ -324826,21 +338245,21 @@ OMIM:614323 a owl:Class ; PMID:3204178, PMID:3676095, PMID:619793 ; - oboInOwl:hasDbXref UMLS:C0263579, - UMLS:C1304501, - ORPHA:79150 ; oboInOwl:hasExactSynonym "LWNH", "hyperpigmentation, progressive cribriform and zosteriform", "nevoid hypermelanosis, linear and whorled" ; + skos:exactMatch UMLS:C0263579, + UMLS:C1304501, + ORPHA:79150 ; biolink:category biolink:Disease . OMIM:614325 a owl:Class ; rdfs:label "pitt-hopkins-like syndrome 2" ; IAO:0000142 PMID:19896112, PMID:21964664 ; - oboInOwl:hasDbXref UMLS:C3280479 ; oboInOwl:hasExactSynonym "PTHSL2", "pitt-hopkins-like syndrome 2" ; + skos:exactMatch UMLS:C3280479 ; biolink:category biolink:Disease . OMIM:614326 a owl:Class ; @@ -324850,11 +338269,11 @@ OMIM:614326 a owl:Class ; PMID:21892160, PMID:30672094 ; RO:0002525 CHR:9606chr13q31.3 ; - oboInOwl:hasDbXref UMLS:C3280489 ; oboInOwl:hasExactSynonym "FGLDS2", "brachydactyly with short stature and microcephaly", "feingold syndrome 2" ; rdfs:subClassOf OMIMPS:164280 ; + skos:exactMatch UMLS:C3280489 ; biolink:category biolink:Disease . OMIM:614330 a owl:Class ; @@ -324862,14 +338281,15 @@ OMIM:614330 a owl:Class ; IAO:0000142 PMID:18783346, PMID:21262840, PMID:27478018 ; - oboInOwl:hasDbXref UMLS:C1538976 ; oboInOwl:hasExactSynonym "C1QL2", "c1q- and tumor necrosis factor-related protein 10", "complement component 1, q subcomponent-like 2", "ctrp10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:165257 ; - skos:exactMatch HGNC_symbol:C1QL2 ; + skos:exactMatch UMLS:C1538976, + HGNC:24181, + HGNC_symbol:C1QL2 ; biolink:category biolink:Gene . OMIM:614331 a owl:Class ; @@ -324877,11 +338297,11 @@ OMIM:614331 a owl:Class ; IAO:0000142 PMID:7761852, PMID:9590282, PMID:9927040 ; - oboInOwl:hasDbXref UMLS:C1860896 ; oboInOwl:hasExactSynonym "HNPCC6", "colon cancer, hereditary nonpolyposis, iia 6", "colorectal cancer, hereditary nonpolyposis, iia 6" ; rdfs:subClassOf OMIMPS:120435 ; + skos:exactMatch UMLS:C1860896 ; biolink:category biolink:Disease . OMIM:614334 a owl:Class ; @@ -324891,23 +338311,24 @@ OMIM:614334 a owl:Class ; PMID:24218364, PMID:27270108, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1428964 ; oboInOwl:hasExactSynonym "DNAJC13", "dnaj/hsp40 homolog, subfamily c, member 13", "kiaa0678", "receptor-mediated endocytosis 8, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23317 ; - skos:exactMatch HGNC_symbol:DNAJC13 ; + skos:exactMatch UMLS:C1428964, + HGNC:30343, + HGNC_symbol:DNAJC13 ; biolink:category biolink:Gene . OMIM:614335 a owl:Class ; rdfs:label "arthrogryposis, distal, iia 1b" ; IAO:0000142 PMID:20045868 ; - oboInOwl:hasDbXref UMLS:C3280526 ; oboInOwl:hasExactSynonym "DA1B", "arthrogryposis, distal, iia 1b" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C3280526 ; biolink:category biolink:Disease . OMIM:614336 a owl:Class ; @@ -324921,14 +338342,15 @@ OMIM:614336 a owl:Class ; PMID:27354339 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:613320 ; - oboInOwl:hasDbXref UMLS:C3148559 ; oboInOwl:hasExactSynonym "PAM16", "mitochondria-associated granulocyte-macrophage colony-stimulating factor signaling molecule", "presequence translocase-associated motor 16", "presequence translocase-associated motor 16, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51025 ; - skos:exactMatch HGNC_symbol:PAM16 ; + skos:exactMatch UMLS:C3148559, + HGNC:29679, + HGNC_symbol:PAM16 ; biolink:category biolink:Gene . OMIM:614337 a owl:Class ; @@ -324940,10 +338362,10 @@ OMIM:614337 a owl:Class ; PMID:18602922, PMID:25856668, PMID:8072530 ; - oboInOwl:hasDbXref UMLS:C1838333 ; oboInOwl:hasExactSynonym "HNPCC4", "colorectal cancer, hereditary nonpolyposis, iia 4" ; rdfs:subClassOf OMIMPS:120435 ; + skos:exactMatch UMLS:C1838333 ; biolink:category biolink:Disease . OMIM:614339 a owl:Class ; @@ -324953,13 +338375,14 @@ OMIM:614339 a owl:Class ; OMIM:614348 a owl:Class ; rdfs:label "ADTRP" ; IAO:0000142 PMID:21868574 ; - oboInOwl:hasDbXref UMLS:C1427421 ; oboInOwl:hasExactSynonym "ADTRP", "androgen-dependent tfpi-regulating protein", "chromosome 6 open reading frame 105" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84830 ; - skos:exactMatch HGNC_symbol:ADTRP ; + skos:exactMatch UMLS:C1427421, + HGNC:21214, + HGNC_symbol:ADTRP ; biolink:category biolink:Gene . OMIM:614349 a owl:Class ; @@ -324968,13 +338391,14 @@ OMIM:614349 a owl:Class ; PMID:21602272, PMID:30487602, PMID:8647861 ; - oboInOwl:hasDbXref UMLS:C1538210 ; oboInOwl:hasExactSynonym "ZNF638", "nuclear protein, 220-kd", "zinc finger protein 638" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27332 ; - skos:exactMatch HGNC_symbol:ZNF638 ; + skos:exactMatch UMLS:C1538210, + HGNC:17894, + HGNC_symbol:ZNF638 ; biolink:category biolink:Gene . OMIM:614350 a owl:Class ; @@ -324988,10 +338412,10 @@ OMIM:614350 a owl:Class ; PMID:25318681, PMID:7604266, PMID:9354786 ; - oboInOwl:hasDbXref UMLS:C1833477 ; oboInOwl:hasExactSynonym "HNPCC5", "colorectal cancer, hereditary nonpolyposis, iia 5" ; rdfs:subClassOf OMIMPS:120435 ; + skos:exactMatch UMLS:C1833477 ; biolink:category biolink:Disease . OMIM:614351 a owl:Class ; @@ -325004,15 +338428,16 @@ OMIM:614351 a owl:Class ; PMID:9348540 ; RO:0002525 CHR:9606chr16q13 ; RO:0003303 OMIM:616892 ; - oboInOwl:hasDbXref UMLS:C1428756, - UMLS:C4225166 ; oboInOwl:hasExactSynonym "NUP93", "kiaa0095", "nic96, s. cerevisiae, homolog of", "nucleoporin, 93-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9688 ; - skos:exactMatch HGNC_symbol:NUP93 ; + skos:exactMatch UMLS:C1428756, + UMLS:C4225166, + HGNC:28958, + HGNC_symbol:NUP93 ; biolink:category biolink:Gene . OMIM:614352 a owl:Class ; @@ -325025,120 +338450,129 @@ OMIM:614352 a owl:Class ; PMID:9348540 ; RO:0002525 CHR:9606chr7q33 ; RO:0003303 OMIM:616893 ; - oboInOwl:hasDbXref UMLS:C1425685, - UMLS:C4225165 ; oboInOwl:hasExactSynonym "NUP205", "chromosome 7 open reading framer 14", "kiaa0225", "nucleoporin, 205-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23165 ; - skos:exactMatch HGNC_symbol:NUP205 ; + skos:exactMatch UMLS:C1425685, + UMLS:C4225165, + HGNC:18658, + HGNC_symbol:NUP205 ; biolink:category biolink:Gene . OMIM:614353 a owl:Class ; rdfs:label "HAS2AS1" ; IAO:0000142 PMID:15843373, PMID:21357421 ; - oboInOwl:hasDbXref UMLS:C2681560 ; oboInOwl:hasExactSynonym "HAS2AS1", "has2 antisense RNA 1", "hyaluronan synthase 2, antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:594842 ; - skos:exactMatch HGNC_symbol:HAS2-AS1 ; + skos:exactMatch UMLS:C2681560, + HGNC:34340, + HGNC_symbol:HAS2-AS1 ; biolink:category biolink:Gene . OMIM:614354 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:21103834, PMID:21414369 ; - oboInOwl:hasDbXref UMLS:C3280546 ; oboInOwl:hasExactSynonym "pro2268 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55390 ; + skos:exactMatch UMLS:C3280546 ; biolink:category biolink:Gene . OMIM:614355 a owl:Class ; rdfs:label "ACSS1" ; IAO:0000142 PMID:11150295, PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C1825841 ; oboInOwl:hasExactSynonym "ACSS1", "acyl-coa synthetase 1", "acyl-coa synthetase short chain family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84532 ; - skos:exactMatch HGNC_symbol:ACSS1 ; + skos:exactMatch UMLS:C1825841, + HGNC:16091, + HGNC_symbol:ACSS1 ; biolink:category biolink:Gene . OMIM:614356 a owl:Class ; rdfs:label "ACSS3" ; IAO:0000142 PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C2240364 ; oboInOwl:hasExactSynonym "ACSS3", "acyl-coa synthetase short chain family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79611 ; - skos:exactMatch HGNC_symbol:ACSS3 ; + skos:exactMatch UMLS:C2240364, + HGNC:24723, + HGNC_symbol:ACSS3 ; biolink:category biolink:Gene . OMIM:614357 a owl:Class ; rdfs:label "ACSM1" ; IAO:0000142 PMID:11470804, PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C1825838 ; oboInOwl:hasExactSynonym "ACSM1", "acyl-coa synthetase medium chain family, member 1", "medium chain acyl-coa synthetase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116285 ; - skos:exactMatch HGNC_symbol:ACSM1 ; + skos:exactMatch UMLS:C1825838, + HGNC:18049, + HGNC_symbol:ACSM1 ; biolink:category biolink:Gene . OMIM:614358 a owl:Class ; rdfs:label "ACSM2A" ; IAO:0000142 PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C2240361 ; oboInOwl:hasExactSynonym "ACSM2A", "acyl-coa synthetase medium chain family, member 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123876 ; - skos:exactMatch HGNC_symbol:ACSM2A ; + skos:exactMatch UMLS:C2240361, + HGNC:32017, + HGNC_symbol:ACSM2A ; biolink:category biolink:Gene . OMIM:614359 a owl:Class ; rdfs:label "ACSM2B" ; IAO:0000142 PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C1825839 ; oboInOwl:hasExactSynonym "ACSM2B", "acyl-coa synthetase medium chain family, member 2b", "xenobiotic/medium chain fatty acid-coa ligase a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348158 ; - skos:exactMatch HGNC_symbol:ACSM2B ; + skos:exactMatch UMLS:C1825839, + HGNC:30931, + HGNC_symbol:ACSM2B ; biolink:category biolink:Gene . OMIM:614360 a owl:Class ; rdfs:label "ACSM4" ; IAO:0000142 PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C2240362 ; oboInOwl:hasExactSynonym "ACSM4", "acyl-coa synthetase medium chain family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:341392 ; - skos:exactMatch HGNC_symbol:ACSM4 ; + skos:exactMatch UMLS:C2240362, + HGNC:32016, + HGNC_symbol:ACSM4 ; biolink:category biolink:Gene . OMIM:614361 a owl:Class ; rdfs:label "ACSM5" ; IAO:0000142 PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C2240363 ; oboInOwl:hasExactSynonym "ACSM5", "acyl-coa synthetase medium chain family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54988 ; - skos:exactMatch HGNC_symbol:ACSM5 ; + skos:exactMatch UMLS:C2240363, + HGNC:26060, + HGNC_symbol:ACSM5 ; biolink:category biolink:Gene . OMIM:614362 a owl:Class ; @@ -325148,7 +338582,6 @@ OMIM:614362 a owl:Class ; PMID:15800013, PMID:17762044, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1825836 ; oboInOwl:hasExactSynonym "ACSBG1", "acyl-coa synthetase, bubblegum family, member 1", "bg1", @@ -325157,7 +338590,9 @@ OMIM:614362 a owl:Class ; "lipidosin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23205 ; - skos:exactMatch HGNC_symbol:ACSBG1 ; + skos:exactMatch UMLS:C1825836, + HGNC:29567, + HGNC_symbol:ACSBG1 ; biolink:category biolink:Gene . OMIM:614363 a owl:Class ; @@ -325165,13 +338600,14 @@ OMIM:614363 a owl:Class ; IAO:0000142 PMID:15685348, PMID:16371355, PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C1825837 ; oboInOwl:hasExactSynonym "ACSBG2", "acyl-coa synthetase, bubblegum family, member 2", "bubblegum-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81616 ; - skos:exactMatch HGNC_symbol:ACSBG2 ; + skos:exactMatch UMLS:C1825837, + HGNC:24174, + HGNC_symbol:ACSBG2 ; biolink:category biolink:Gene . OMIM:614364 a owl:Class ; @@ -325179,26 +338615,28 @@ OMIM:614364 a owl:Class ; IAO:0000142 PMID:12623130, PMID:15992942, PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C1427475 ; oboInOwl:hasExactSynonym "AACS", "acetoacetyl-coa synthetase", "acyl-coa synthetase family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65985 ; - skos:exactMatch HGNC_symbol:AACS ; + skos:exactMatch UMLS:C1427475, + HGNC:21298, + HGNC_symbol:AACS ; biolink:category biolink:Gene . OMIM:614365 a owl:Class ; rdfs:label "AASDH" ; IAO:0000142 PMID:12712191, PMID:17762044 ; - oboInOwl:hasDbXref UMLS:C2240229 ; oboInOwl:hasExactSynonym "AASDH", "acyl-coa synthetase family, member 4", "aminoadipate-semialdehyde dehydrogenase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132949 ; - skos:exactMatch HGNC_symbol:AASDH ; + skos:exactMatch UMLS:C2240229, + HGNC:23993, + HGNC_symbol:AASDH ; biolink:category biolink:Gene . OMIM:614366 a owl:Class ; @@ -325210,21 +338648,21 @@ OMIM:614366 a owl:Class ; PMID:25339210 ; RO:0002525 CHR:9606chr12q23.3 ; RO:0003303 OMIM:614381 ; - oboInOwl:hasDbXref UMLS:C1538696 ; oboInOwl:hasExactSynonym "POLR3B", "c128, s. cerevisiae, homolog of", "polymerase iii, rna, subunit B", "rpc2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55703 ; - skos:exactMatch HGNC_symbol:POLR3B ; + skos:exactMatch UMLS:C1538696, + HGNC:30348, + HGNC_symbol:POLR3B ; biolink:category biolink:Gene . OMIM:614367 a owl:Class ; rdfs:label "AP5B1" ; IAO:0000142 PMID:20613862, PMID:22022230 ; - oboInOwl:hasDbXref UMLS:C3280555 ; oboInOwl:hasExactSynonym "AP5B1", "adaptor-related protein complex 5, beta subunit", "adaptor-related protein complex 5, beta-1 subunit", @@ -325232,7 +338670,9 @@ OMIM:614367 a owl:Class ; "dkfzp761e198" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91056 ; - skos:exactMatch HGNC_symbol:AP5B1 ; + skos:exactMatch UMLS:C3280555, + HGNC:25104, + HGNC_symbol:AP5B1 ; biolink:category biolink:Gene . OMIM:614368 a owl:Class ; @@ -325240,7 +338680,6 @@ OMIM:614368 a owl:Class ; IAO:0000142 PMID:18395520, PMID:20613862, PMID:22022230 ; - oboInOwl:hasDbXref UMLS:C1426765 ; oboInOwl:hasExactSynonym "AP5M1", "adaptor-related protein complex 5, mu subunit", "adaptor-related protein complex 5, mu-1 subunit", @@ -325250,15 +338689,17 @@ OMIM:614368 a owl:Class ; "mud" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55745 ; - skos:exactMatch HGNC_symbol:AP5M1 ; + skos:exactMatch UMLS:C1426765, + HGNC:20192, + HGNC_symbol:AP5M1 ; biolink:category biolink:Gene . OMIM:614369 a owl:Class ; rdfs:label "peripheral neuropathy, myopathy, hoarseness, and hearing loss" ; IAO:0000142 PMID:21480433 ; - oboInOwl:hasDbXref UMLS:C3280556 ; oboInOwl:hasExactSynonym "PNMHH", "peripheral neuropathy, myopathy, hoarseness, and hearing loss" ; + skos:exactMatch UMLS:C3280556 ; biolink:category biolink:Disease . OMIM:614371 a owl:Class ; @@ -325276,26 +338717,26 @@ OMIM:614371 a owl:Class ; PMID:25939314, PMID:26138103, PMID:28126818 ; - oboInOwl:hasDbXref UMLS:C1858186, - UMLS:C3280582, - UMLS:C3280583, - UMLS:C3280584, - UMLS:C3280585 ; oboInOwl:hasExactSynonym "dengue fever, protection against", "dengue fever, susceptibility to", "dengue hemorrhagic fever, susceptibility to", "dengue shock syndrome, susceptibility to", "dengue virus, susceptibility to" ; + skos:exactMatch UMLS:C1858186, + UMLS:C3280582, + UMLS:C3280583, + UMLS:C3280584, + UMLS:C3280585 ; biolink:category biolink:Disease . OMIM:614373 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 16, juvenile" ; IAO:0000142 PMID:21842496, PMID:7807156 ; - oboInOwl:hasDbXref UMLS:C3280587 ; oboInOwl:hasExactSynonym "ALS16", "amyotrophic lateral sclerosis 16, juvenile" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C3280587 ; biolink:category biolink:Disease . OMIM:614376 a owl:Class ; @@ -325304,31 +338745,31 @@ OMIM:614376 a owl:Class ; PMID:22019273, PMID:22791528, PMID:24183451 ; - oboInOwl:hasDbXref UMLS:C3280598 ; oboInOwl:hasExactSynonym "SRTD5", "asphyxiating thoracic dystrophy 5", "short-rib thoracic dysplasia 5 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C3280598 ; biolink:category biolink:Disease . OMIM:614377 a owl:Class ; rdfs:label "nephronophthisis 13" ; IAO:0000142 PMID:22019273, PMID:23559409 ; - oboInOwl:hasDbXref UMLS:C3280612 ; oboInOwl:hasExactSynonym "NPHP13", "nephronophthisis 13" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C3280612 ; biolink:category biolink:Disease . OMIM:614378 a owl:Class ; rdfs:label "cranioectodermal dysplasia 4" ; IAO:0000142 PMID:21378380, PMID:22019273 ; - oboInOwl:hasDbXref UMLS:C3280616 ; oboInOwl:hasExactSynonym "CED4", "cranioectodermal dysplasia 4" ; rdfs:subClassOf OMIMPS:218330 ; + skos:exactMatch UMLS:C3280616 ; biolink:category biolink:Disease . OMIM:614380 a owl:Class ; @@ -325344,21 +338785,21 @@ OMIM:614380 a owl:Class ; PMID:7451653, PMID:7706484, PMID:8473511 ; - oboInOwl:hasDbXref UMLS:C3280642 ; oboInOwl:hasExactSynonym "C4AD", "c4a deficiency", "complement component 4a deficiency" ; + skos:exactMatch UMLS:C3280642 ; biolink:category biolink:Disease . OMIM:614382 a owl:Class ; rdfs:label "bacteremia, susceptibility to, 1" ; IAO:0000142 PMID:15635111, PMID:17322885 ; - oboInOwl:hasDbXref UMLS:C3280645, - UMLS:C3280646 ; oboInOwl:hasExactSynonym "BACTS1", "bacteremia, resistance to", "bacteremia, susceptibility to, 1" ; + skos:exactMatch UMLS:C3280645, + UMLS:C3280646 ; biolink:category biolink:Disease . OMIM:614383 a owl:Class ; @@ -325366,9 +338807,9 @@ OMIM:614383 a owl:Class ; IAO:0000142 PMID:15635111, PMID:20484391, PMID:9465889 ; - oboInOwl:hasDbXref UMLS:C3280647 ; oboInOwl:hasExactSynonym "BACTS2", "bacteremia, susceptibility to, 2" ; + skos:exactMatch UMLS:C3280647 ; biolink:category biolink:Disease . OMIM:614384 a owl:Class ; @@ -325376,22 +338817,23 @@ OMIM:614384 a owl:Class ; IAO:0000142 PMID:16489141, PMID:21319197, PMID:21655935 ; - oboInOwl:hasDbXref UMLS:C1826046 ; oboInOwl:hasExactSynonym "MIR492", "micro RNA 492", "mirna492" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574449 ; - skos:exactMatch HGNC_symbol:MIR492 ; + skos:exactMatch UMLS:C1826046, + HGNC:32081, + HGNC_symbol:MIR492 ; biolink:category biolink:Gene . OMIM:614385 a owl:Class ; rdfs:label "colorectal cancer, hereditary nonpolyposis, iia 7" ; IAO:0000142 PMID:12702580 ; - oboInOwl:hasDbXref UMLS:C1858380 ; oboInOwl:hasExactSynonym "HNPCC7", "colorectal cancer, hereditary nonpolyposis, iia 7" ; rdfs:subClassOf OMIMPS:120435 ; + skos:exactMatch UMLS:C1858380 ; biolink:category biolink:Disease . OMIM:614386 a owl:Class ; @@ -325411,24 +338853,26 @@ OMIM:614386 a owl:Class ; PMID:9579893 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:605751 ; - oboInOwl:hasDbXref UMLS:C1826724 ; oboInOwl:hasExactSynonym "PRRT2", "proline-rich transmembrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112476 ; - skos:exactMatch HGNC_symbol:PRRT2 ; + skos:exactMatch UMLS:C1826724, + HGNC:30500, + HGNC_symbol:PRRT2 ; biolink:category biolink:Gene . OMIM:614387 a owl:Class ; rdfs:label "ZNF526" ; IAO:0000142 PMID:11853319 ; - oboInOwl:hasDbXref UMLS:C1428857 ; oboInOwl:hasExactSynonym "ZNF526", "kiaa1951", "zinc finger protein 526" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116115 ; - skos:exactMatch HGNC_symbol:ZNF526 ; + skos:exactMatch UMLS:C1428857, + HGNC:29415, + HGNC_symbol:ZNF526 ; biolink:category biolink:Gene . OMIM:614388 a owl:Class ; @@ -325445,12 +338889,12 @@ OMIM:614388 a owl:Class ; PMID:27145208, PMID:27328748, PMID:31587467 ; - oboInOwl:hasDbXref UMLS:C3280660, - ORPHA:330050 ; oboInOwl:hasExactSynonym "EMPF1", "empf", "encephalopathy due to defective mitochondrial and peroxisomal fission 1" ; rdfs:subClassOf OMIMPS:614388 ; + skos:exactMatch UMLS:C3280660, + ORPHA:330050 ; biolink:category biolink:Disease . OMIM:614389 a owl:Class ; @@ -325469,7 +338913,6 @@ OMIM:614389 a owl:Class ; PMID:7918041, PMID:8164730, PMID:8419231 ; - oboInOwl:hasDbXref UMLS:C3280670 ; oboInOwl:hasExactSynonym "RPRGL1", "abortion, spontaneous, recurrent", "embryonic loss, recurrent", @@ -325479,6 +338922,7 @@ OMIM:614389 a owl:Class ; "rpl", "rprgl", "stillbirth, recurrent" ; + skos:exactMatch UMLS:C3280670 ; biolink:category biolink:Disease . OMIM:614390 a owl:Class ; @@ -325486,9 +338930,9 @@ OMIM:614390 a owl:Class ; IAO:0000142 PMID:11506076, PMID:16905025, PMID:18303502 ; - oboInOwl:hasDbXref UMLS:C3280672 ; oboInOwl:hasExactSynonym "RPRGL2", "pregnancy loss, recurrent, susceptibility to, 2" ; + skos:exactMatch UMLS:C3280672 ; biolink:category biolink:Disease . OMIM:614392 a owl:Class ; @@ -325496,24 +338940,26 @@ OMIM:614392 a owl:Class ; IAO:0000142 PMID:18632687, PMID:18664458, PMID:21172665 ; - oboInOwl:hasDbXref UMLS:C1427031 ; oboInOwl:hasExactSynonym "TDRD3", "tudor domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81550 ; - skos:exactMatch HGNC_symbol:TDRD3 ; + skos:exactMatch UMLS:C1427031, + HGNC:20612, + HGNC_symbol:TDRD3 ; biolink:category biolink:Gene . OMIM:614393 a owl:Class ; rdfs:label "OARD1" ; IAO:0000142 PMID:21849506 ; - oboInOwl:hasDbXref UMLS:C1427460 ; oboInOwl:hasExactSynonym "OARD1", "chromosome 6 open reading frame 130", "o-acyl-adp-ribose deacylase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221443 ; - skos:exactMatch HGNC_symbol:OARD1 ; + skos:exactMatch UMLS:C1427460, + HGNC:21257, + HGNC_symbol:OARD1 ; biolink:category biolink:Gene . OMIM:614394 a owl:Class ; @@ -325521,13 +338967,14 @@ OMIM:614394 a owl:Class ; IAO:0000142 PMID:14672413, PMID:16775004, PMID:23892607 ; - oboInOwl:hasDbXref UMLS:C1825566 ; oboInOwl:hasExactSynonym "IFT20", "intraflagellar transport 20", "intraflagellar transport 20, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90410 ; - skos:exactMatch HGNC_symbol:IFT20 ; + skos:exactMatch UMLS:C1825566, + HGNC:30989, + HGNC_symbol:IFT20 ; biolink:category biolink:Gene . OMIM:614395 a owl:Class ; @@ -325536,11 +338983,11 @@ OMIM:614395 a owl:Class ; PMID:14657427, PMID:16412785, PMID:9162098 ; - oboInOwl:hasDbXref UMLS:C3280677, - UMLS:C3280678 ; oboInOwl:hasExactSynonym "GVHDS", "graft-versus-host disease, resistance to", "graft-versus-host disease, susceptibility to" ; + skos:exactMatch UMLS:C3280677, + UMLS:C3280678 ; biolink:category biolink:Disease . OMIM:614396 a owl:Class ; @@ -325548,13 +338995,14 @@ OMIM:614396 a owl:Class ; IAO:0000142 PMID:15498521, PMID:21594610, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1825394 ; oboInOwl:hasExactSynonym "GPATCH8", "g-patch domain-containing protein 8", "kiaa0553" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23131 ; - skos:exactMatch HGNC_symbol:GPATCH8 ; + skos:exactMatch UMLS:C1825394, + HGNC:29066, + HGNC_symbol:GPATCH8 ; biolink:category biolink:Gene . OMIM:614397 a owl:Class ; @@ -325569,34 +339017,35 @@ OMIM:614397 a owl:Class ; PMID:31127034 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:616486 ; - oboInOwl:hasDbXref UMLS:C1825980, - UMLS:C4225310 ; oboInOwl:hasExactSynonym "MFSD2A", "major facilitator superfamily domain-containing protein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84879 ; - skos:exactMatch HGNC_symbol:MFSD2A ; + skos:exactMatch UMLS:C1825980, + UMLS:C4225310, + HGNC:25897, + HGNC_symbol:MFSD2A ; biolink:category biolink:Gene . OMIM:614398 a owl:Class ; rdfs:label "JCAD" ; IAO:0000142 PMID:10819331, PMID:21884682 ; - oboInOwl:hasDbXref UMLS:C1428823 ; oboInOwl:hasExactSynonym "JCAD", "junctional cadherin 5-associated protein", "junctional protein associated with coronary artery disease", "kiaa1462" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57608 ; - skos:exactMatch HGNC_symbol:JCAD ; + skos:exactMatch UMLS:C1428823, + HGNC:29283, + HGNC_symbol:JCAD ; biolink:category biolink:Gene . OMIM:614403 a owl:Class ; rdfs:label "RHBDF1" ; IAO:0000142 PMID:21439629, PMID:8318735 ; - oboInOwl:hasDbXref UMLS:C1427003 ; oboInOwl:hasExactSynonym "RHBDF1", "chromosome 16 open reading frame 8", "dist1", @@ -325605,7 +339054,9 @@ OMIM:614403 a owl:Class ; "rhomboid 5, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64285 ; - skos:exactMatch HGNC_symbol:RHBDF1 ; + skos:exactMatch UMLS:C1427003, + HGNC:20561, + HGNC_symbol:RHBDF1 ; biolink:category biolink:Gene . OMIM:614404 a owl:Class ; @@ -325623,48 +339074,51 @@ OMIM:614404 a owl:Class ; PMID:8666405 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:148500 ; - oboInOwl:hasDbXref UMLS:C1826825 ; oboInOwl:hasExactSynonym "RHBDF2", "inactive rhomboid protein 2", "rhomboid 5 homolog 2", "rhomboid 5, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79651 ; - skos:exactMatch HGNC_symbol:RHBDF2 ; + skos:exactMatch UMLS:C1826825, + HGNC:20788, + HGNC_symbol:RHBDF2 ; biolink:category biolink:Gene . OMIM:614405 a owl:Class ; rdfs:label "DHX33" ; IAO:0000142 PMID:21930779 ; - oboInOwl:hasDbXref UMLS:C1424504 ; oboInOwl:hasExactSynonym "DHX33", "deah-box helicase 33", "deah-box polypeptide 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56919 ; - skos:exactMatch HGNC_symbol:DHX33 ; + skos:exactMatch UMLS:C1424504, + HGNC:16718, + HGNC_symbol:DHX33 ; biolink:category biolink:Gene . OMIM:614406 a owl:Class ; rdfs:label "SCIMP" ; IAO:0000142 PMID:21930792 ; - oboInOwl:hasDbXref UMLS:C2240316 ; oboInOwl:hasExactSynonym "SCIMP", "chromosome 17 open reading frame 87", "slp adaptor- and csk-interacting membrane protein", "slp65/slp76- and csk-interacting membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388325 ; - skos:exactMatch HGNC_symbol:SCIMP ; + skos:exactMatch UMLS:C2240316, + HGNC:33504, + HGNC_symbol:SCIMP ; biolink:category biolink:Gene . OMIM:614407 a owl:Class ; rdfs:label "microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome" ; IAO:0000142 PMID:22002884 ; - oboInOwl:hasDbXref UMLS:C3280692 ; oboInOwl:hasExactSynonym "MCHCCD", "microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome", "zaki-gleeson syndrome" ; + skos:exactMatch UMLS:C3280692 ; biolink:category biolink:Disease . OMIM:614408 a owl:Class ; @@ -325674,43 +339128,45 @@ OMIM:614408 a owl:Class ; OMIM:614410 a owl:Class ; rdfs:label "AFAP1L1" ; IAO:0000142 PMID:21333378 ; - oboInOwl:hasDbXref UMLS:C2239293 ; oboInOwl:hasExactSynonym "AFAP1L1", "actin filament-associated protein 1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134265 ; - skos:exactMatch HGNC_symbol:AFAP1L1 ; + skos:exactMatch UMLS:C2239293, + HGNC:26714, + HGNC_symbol:AFAP1L1 ; biolink:category biolink:Gene . OMIM:614412 a owl:Class ; rdfs:label "TOPAZ1" ; IAO:0000142 PMID:22069478 ; - oboInOwl:hasDbXref UMLS:C2828843 ; oboInOwl:hasExactSynonym "TOPAZ1", "chromosome 3 open reading frame 77", "testis- and ovary-specific paz domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375337 ; - skos:exactMatch HGNC_symbol:TOPAZ1 ; + skos:exactMatch UMLS:C2828843, + HGNC:24746, + HGNC_symbol:TOPAZ1 ; biolink:category biolink:Gene . OMIM:614415 a owl:Class ; rdfs:label "chilblain lupus 2" ; IAO:0000142 PMID:21204240 ; - oboInOwl:hasDbXref UMLS:C3280721 ; oboInOwl:hasExactSynonym "CHBL2", "chilblain lupus 2" ; rdfs:subClassOf OMIMPS:610448 ; + skos:exactMatch UMLS:C3280721 ; biolink:category biolink:Disease . OMIM:614417 a owl:Class ; rdfs:label "epilepsy, familial temporal lobe, 5" ; IAO:0000142 PMID:21922598, PMID:23105115 ; - oboInOwl:hasDbXref UMLS:C3280730 ; oboInOwl:hasExactSynonym "ETL5", "epilepsy, familial temporal lobe, 5" ; rdfs:subClassOf OMIMPS:600512 ; + skos:exactMatch UMLS:C3280730 ; biolink:category biolink:Disease . OMIM:614421 a owl:Class ; @@ -325726,13 +339182,14 @@ OMIM:614423 a owl:Class ; PMID:22981120 ; RO:0002525 CHR:9606chr2q33.1 ; RO:0003303 OMIM:614424 ; - oboInOwl:hasDbXref UMLS:C3146739 ; oboInOwl:hasExactSynonym "TMEM237", "als2 chromosome region gene 4", "transmembrane protein 237" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65062 ; - skos:exactMatch HGNC_symbol:TMEM237 ; + skos:exactMatch UMLS:C3146739, + HGNC:14432, + HGNC_symbol:TMEM237 ; biolink:category biolink:Gene . OMIM:614425 a owl:Class ; @@ -325740,13 +339197,14 @@ OMIM:614425 a owl:Class ; IAO:0000142 PMID:20801936, PMID:20810650, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C3146829 ; oboInOwl:hasExactSynonym "TTI1", "kiaa0406", "telo2-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9675 ; - skos:exactMatch HGNC_symbol:TTI1 ; + skos:exactMatch UMLS:C3146829, + HGNC:29029, + HGNC_symbol:TTI1 ; biolink:category biolink:Gene . OMIM:614426 a owl:Class ; @@ -325757,13 +339215,14 @@ OMIM:614426 a owl:Class ; PMID:23956177 ; RO:0002525 CHR:9606chr8p12 ; RO:0003303 OMIM:615541 ; - oboInOwl:hasDbXref UMLS:C1824250 ; oboInOwl:hasExactSynonym "TTI2", "chromosome 8 open reading frame 41", "telo2-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80185 ; - skos:exactMatch HGNC_symbol:TTI2 ; + skos:exactMatch UMLS:C1824250, + HGNC:26262, + HGNC_symbol:TTI2 ; biolink:category biolink:Gene . OMIM:614427 a owl:Class ; @@ -325773,26 +339232,28 @@ OMIM:614427 a owl:Class ; PMID:24487590 ; RO:0002525 CHR:9606chr18q22.3 ; RO:0003303 OMIM:607842 ; - oboInOwl:hasDbXref UMLS:C1823514 ; oboInOwl:hasExactSynonym "TSHZ1", "ny-co-33", "teashirt zinc finger homeobox 1", "tsh1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10194 ; - skos:exactMatch HGNC_symbol:TSHZ1 ; + skos:exactMatch UMLS:C1823514, + HGNC:10669, + HGNC_symbol:TSHZ1 ; biolink:category biolink:Gene . OMIM:614428 a owl:Class ; rdfs:label "TFAP2E" ; IAO:0000142 PMID:14636996 ; - oboInOwl:hasDbXref UMLS:C1539952 ; oboInOwl:hasExactSynonym "TFAP2E", "ap2-epsilon", "transcription factor ap2-epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339488 ; - skos:exactMatch HGNC_symbol:TFAP2E ; + skos:exactMatch UMLS:C1539952, + HGNC:30774, + HGNC_symbol:TFAP2E ; biolink:category biolink:Gene . OMIM:614430 a owl:Class ; @@ -325801,28 +339262,28 @@ OMIM:614430 a owl:Class ; PMID:17105897, PMID:17643447, PMID:18672102 ; - oboInOwl:hasDbXref UMLS:C3280781 ; oboInOwl:hasExactSynonym "AVSD4", "atrioventricular septal defect 4" ; rdfs:subClassOf OMIMPS:606215 ; + skos:exactMatch UMLS:C3280781 ; biolink:category biolink:Disease . OMIM:614433 a owl:Class ; rdfs:label "atrial septal defect 8" ; IAO:0000142 PMID:16287139 ; - oboInOwl:hasDbXref UMLS:C3280790 ; oboInOwl:hasExactSynonym "ASD8", "atrial septal defect 8" ; rdfs:subClassOf OMIMPS:108800 ; + skos:exactMatch UMLS:C3280790 ; biolink:category biolink:Disease . OMIM:614434 a owl:Class ; rdfs:label "cutis laxa, autosomal dominant 2" ; IAO:0000142 PMID:12618961 ; - oboInOwl:hasDbXref UMLS:C3280794 ; oboInOwl:hasExactSynonym "ADCL2", "cutis laxa, autosomal dominant 2" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C3280794 ; biolink:category biolink:Disease . OMIM:614435 a owl:Class ; @@ -325830,49 +339291,52 @@ OMIM:614435 a owl:Class ; IAO:0000142 PMID:13050604, PMID:14607454, PMID:20456451 ; - oboInOwl:hasDbXref UMLS:C3280795 ; oboInOwl:hasExactSynonym "HLHS2", "hypoplastic left heart syndrome 2" ; rdfs:subClassOf OMIMPS:241550 ; + skos:exactMatch UMLS:C3280795 ; biolink:category biolink:Disease . OMIM:614439 a owl:Class ; rdfs:label "ARL14" ; IAO:0000142 PMID:21458045 ; - oboInOwl:hasDbXref UMLS:C1824214 ; oboInOwl:hasExactSynonym "ARL14", "adp-ribosylation factor 7", "adp-ribosylation factor-like gtpase 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80117 ; - skos:exactMatch HGNC_symbol:ARL14 ; + skos:exactMatch UMLS:C1824214, + HGNC:22974, + HGNC_symbol:ARL14 ; biolink:category biolink:Gene . OMIM:614440 a owl:Class ; rdfs:label "PSD3" ; IAO:0000142 PMID:16270321 ; - oboInOwl:hasDbXref UMLS:C1538736 ; oboInOwl:hasExactSynonym "PSD3", "efa6r", "hca67", "pleckstrin and sec7 domains-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23362 ; - skos:exactMatch HGNC_symbol:PSD3 ; + skos:exactMatch UMLS:C1538736, + HGNC:19093, + HGNC_symbol:PSD3 ; biolink:category biolink:Gene . OMIM:614442 a owl:Class ; rdfs:label "PSD4" ; IAO:0000142 PMID:12082148, PMID:21458045 ; - oboInOwl:hasDbXref UMLS:C3280815 ; oboInOwl:hasExactSynonym "PSD4", "exchange factor for arf6, B", "pleckstrin and sec7 domains-containing protein 4", "telomeric of interleukin 1 cluster" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23550 ; - skos:exactMatch HGNC_symbol:PSD4 ; + skos:exactMatch UMLS:C3280815, + HGNC:19096, + HGNC_symbol:PSD4 ; biolink:category biolink:Gene . OMIM:614443 a owl:Class ; @@ -325880,13 +339344,14 @@ OMIM:614443 a owl:Class ; IAO:0000142 PMID:10074103, PMID:10849420, PMID:19170763 ; - oboInOwl:hasDbXref UMLS:C1456382 ; oboInOwl:hasExactSynonym "EBNA1BP2", "ebna1-binding protein 2", "ebp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10969 ; - skos:exactMatch HGNC_symbol:EBNA1BP2 ; + skos:exactMatch UMLS:C1456382, + HGNC:15531, + HGNC_symbol:EBNA1BP2 ; biolink:category biolink:Gene . OMIM:614444 a owl:Class ; @@ -325894,7 +339359,6 @@ OMIM:614444 a owl:Class ; IAO:0000142 PMID:10747847, PMID:10889189, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1538780 ; oboInOwl:hasExactSynonym "RALGPS1", "kiaa0351", "ral gef with ph domain and sh3 domain-binding motif", @@ -325902,14 +339366,15 @@ OMIM:614444 a owl:Class ; "ral guanine nucleotide exchange factor with ph domain and sh3 domain-binding motif 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9649 ; - skos:exactMatch HGNC_symbol:RALGPS1 ; + skos:exactMatch UMLS:C1538780, + HGNC:16851, + HGNC_symbol:RALGPS1 ; biolink:category biolink:Gene . OMIM:614445 a owl:Class ; rdfs:label "DPPA2" ; IAO:0000142 PMID:21896782, PMID:25686699 ; - oboInOwl:hasDbXref UMLS:C1426083 ; oboInOwl:hasExactSynonym "DPPA2", "developmental pluripotency-associated gene 2", "ecat15-2", @@ -325917,19 +339382,22 @@ OMIM:614445 a owl:Class ; "pluripotent embryonic stem cell-related gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151871 ; - skos:exactMatch HGNC_symbol:DPPA2 ; + skos:exactMatch UMLS:C1426083, + HGNC:19197, + HGNC_symbol:DPPA2 ; biolink:category biolink:Gene . OMIM:614446 a owl:Class ; rdfs:label "ATP9B" ; IAO:0000142 PMID:21914794, PMID:9548971 ; - oboInOwl:hasDbXref UMLS:C1422051 ; oboInOwl:hasExactSynonym "ATP9B", "atpase, class ii, iia 9b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374868 ; - skos:exactMatch HGNC_symbol:ATP9B ; + skos:exactMatch UMLS:C1422051, + HGNC:13541, + HGNC_symbol:ATP9B ; biolink:category biolink:Gene . OMIM:614447 a owl:Class ; @@ -325937,12 +339405,13 @@ OMIM:614447 a owl:Class ; IAO:0000142 PMID:10645953, PMID:1930693, PMID:19706769 ; - oboInOwl:hasDbXref UMLS:C1825423 ; oboInOwl:hasExactSynonym "G0S2", "g0/g1 switch gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50486 ; - skos:exactMatch HGNC_symbol:G0S2 ; + skos:exactMatch UMLS:C1825423, + HGNC:30229, + HGNC_symbol:G0S2 ; biolink:category biolink:Gene . OMIM:614448 a owl:Class ; @@ -325951,25 +339420,27 @@ OMIM:614448 a owl:Class ; PMID:26395491, PMID:30824354, PMID:30936178 ; - oboInOwl:hasDbXref UMLS:C3280816 ; oboInOwl:hasExactSynonym "GMNC", "gemc1", "geminin coiled-coil domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:647309 ; - skos:exactMatch HGNC_symbol:GMNC ; + skos:exactMatch UMLS:C3280816, + HGNC:40049, + HGNC_symbol:GMNC ; biolink:category biolink:Gene . OMIM:614449 a owl:Class ; rdfs:label "PCDH20" ; IAO:0000142 PMID:10817752 ; - oboInOwl:hasDbXref UMLS:C1422518 ; oboInOwl:hasExactSynonym "PCDH20", "protocadherin 13", "protocadherin 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64881 ; - skos:exactMatch HGNC_symbol:PCDH20 ; + skos:exactMatch UMLS:C1422518, + HGNC:14257, + HGNC_symbol:PCDH20 ; biolink:category biolink:Gene . OMIM:614451 a owl:Class ; @@ -325977,13 +339448,14 @@ OMIM:614451 a owl:Class ; IAO:0000142 PMID:19826053, PMID:20937905, PMID:21959040 ; - oboInOwl:hasDbXref UMLS:C1539356 ; oboInOwl:hasExactSynonym "ELOVL7", "elongation of very long chain fatty acids-like 7", "elovl fatty acid elongase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79993 ; - skos:exactMatch HGNC_symbol:ELOVL7 ; + skos:exactMatch UMLS:C1539356, + HGNC:26292, + HGNC_symbol:ELOVL7 ; biolink:category biolink:Gene . OMIM:614452 a owl:Class ; @@ -325994,14 +339466,15 @@ OMIM:614452 a owl:Class ; PMID:29659736 ; RO:0002525 CHR:9606chr10q23.31 ; RO:0003303 OMIM:618011 ; - oboInOwl:hasDbXref UMLS:C1428532, - UMLS:C4693933 ; oboInOwl:hasExactSynonym "ATAD1", "atpase family, aaa domain-containing, member 1", "thorase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84896 ; - skos:exactMatch HGNC_symbol:ATAD1 ; + skos:exactMatch UMLS:C1428532, + UMLS:C4693933, + HGNC:25903, + HGNC_symbol:ATAD1 ; biolink:category biolink:Gene . OMIM:614453 a owl:Class ; @@ -326009,7 +339482,6 @@ OMIM:614453 a owl:Class ; IAO:0000142 PMID:10718198, PMID:11729199, PMID:22072671 ; - oboInOwl:hasDbXref UMLS:C1537596 ; oboInOwl:hasExactSynonym "LRRC7", "densin", "densin 180", @@ -326017,7 +339489,9 @@ OMIM:614453 a owl:Class ; "leucine-rich repeat-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57554 ; - skos:exactMatch HGNC_symbol:LRRC7 ; + skos:exactMatch UMLS:C1537596, + HGNC:18531, + HGNC_symbol:LRRC7 ; biolink:category biolink:Gene . OMIM:614454 a owl:Class ; @@ -326025,7 +339499,6 @@ OMIM:614454 a owl:Class ; IAO:0000142 PMID:11278995, PMID:7584026, PMID:9575161 ; - oboInOwl:hasDbXref UMLS:C1540149 ; oboInOwl:hasExactSynonym "UBE3C", "hecth2", "kiaa0010", @@ -326033,7 +339506,9 @@ OMIM:614454 a owl:Class ; "ubiquitin protein ligase e3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9690 ; - skos:exactMatch HGNC_symbol:UBE3C ; + skos:exactMatch UMLS:C1540149, + HGNC:16803, + HGNC_symbol:UBE3C ; biolink:category biolink:Gene . OMIM:614455 a owl:Class ; @@ -326041,20 +339516,20 @@ OMIM:614455 a owl:Class ; IAO:0000142 PMID:22187985, PMID:5462235, PMID:6054293 ; - oboInOwl:hasDbXref UMLS:C3280845 ; oboInOwl:hasExactSynonym "CMTDIE", "charcot-marie-tooth disease, dominant intermediate e", "charcot-marie-tooth neuropathy with focal segmental glomerulonephritis" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3280845 ; biolink:category biolink:Disease . OMIM:614457 a owl:Class ; rdfs:label "ichthyosis, spastic quadriplegia, and mental retardation" ; IAO:0000142 PMID:17208947, PMID:22100072 ; - oboInOwl:hasDbXref UMLS:C3280856 ; oboInOwl:hasExactSynonym "ISQMR", "ichthyosis, spastic quadriplegia, and mental retardation" ; + skos:exactMatch UMLS:C3280856 ; biolink:category biolink:Disease . OMIM:614459 a owl:Class ; @@ -326063,24 +339538,26 @@ OMIM:614459 a owl:Class ; PMID:29025994 ; RO:0002525 CHR:9606chr11q12.2 ; RO:0003303 OMIM:614465 ; - oboInOwl:hasDbXref UMLS:C1823401 ; oboInOwl:hasExactSynonym "TMEM138", "transmembrane protein 138" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51524 ; - skos:exactMatch HGNC_symbol:TMEM138 ; + skos:exactMatch UMLS:C1823401, + HGNC:26944, + HGNC_symbol:TMEM138 ; biolink:category biolink:Gene . OMIM:614460 a owl:Class ; rdfs:label "USP47" ; IAO:0000142 PMID:14715245, PMID:19966869 ; - oboInOwl:hasDbXref UMLS:C1426664 ; oboInOwl:hasExactSynonym "USP47", "ubiquitin-specific protease 47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55031 ; - skos:exactMatch HGNC_symbol:USP47 ; + skos:exactMatch UMLS:C1426664, + HGNC:20076, + HGNC_symbol:USP47 ; biolink:category biolink:Gene . OMIM:614461 a owl:Class ; @@ -326090,14 +339567,15 @@ OMIM:614461 a owl:Class ; PMID:28804536 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:615824 ; - oboInOwl:hasDbXref UMLS:C1427441 ; oboInOwl:hasExactSynonym "UQCC2", "chromosome 6 open reading frame 125", "m19", "ubiquinol-cytochrome c reductase complex assembly factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84300 ; - skos:exactMatch HGNC_symbol:UQCC2 ; + skos:exactMatch UMLS:C1427441, + HGNC:21237, + HGNC_symbol:UQCC2 ; biolink:category biolink:Gene . OMIM:614463 a owl:Class ; @@ -326110,14 +339588,15 @@ OMIM:614463 a owl:Class ; PMID:21636852, PMID:25241110, PMID:28112205 ; - oboInOwl:hasDbXref UMLS:C1422672 ; oboInOwl:hasExactSynonym "NDRG4", "kiaa1180", "nmyc downstream-regulated gene 4", "smooth muscle-associated protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65009 ; - skos:exactMatch HGNC_symbol:NDRG4 ; + skos:exactMatch UMLS:C1422672, + HGNC:14466, + HGNC_symbol:NDRG4 ; biolink:category biolink:Gene . OMIM:614467 a owl:Class ; @@ -326130,14 +339609,15 @@ OMIM:614469 a owl:Class ; PMID:19546234, PMID:19632182, PMID:22198669 ; - oboInOwl:hasDbXref UMLS:C2680450 ; oboInOwl:hasExactSynonym "SRRT", "arsenite resistance protein 2", "serrate RNA effector molecule", "serrate RNA effector molecule, arabidopsis, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51593 ; - skos:exactMatch HGNC_symbol:SRRT ; + skos:exactMatch UMLS:C2680450, + HGNC:24101, + HGNC_symbol:SRRT ; biolink:category biolink:Gene . OMIM:614470 a owl:Class ; @@ -326146,37 +339626,39 @@ OMIM:614470 a owl:Class ; PMID:21063026, PMID:21079152, PMID:24240292 ; - oboInOwl:hasDbXref UMLS:C2674723, - ORPHA:268114 ; oboInOwl:hasExactSynonym "RALD", "autoimmune lymphoproliferative syndrome, iia 4", "ras-associated autoimmune leukoproliferative disorder" ; + skos:exactMatch UMLS:C2674723, + ORPHA:268114 ; biolink:category biolink:Disease . OMIM:614471 a owl:Class ; rdfs:label "USP19" ; IAO:0000142 PMID:10048485, PMID:19015242 ; - oboInOwl:hasDbXref UMLS:C1421396 ; oboInOwl:hasExactSynonym "USP19", "kiaa0891", "ubiquitin-specific protease 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10869 ; - skos:exactMatch HGNC_symbol:USP19 ; + skos:exactMatch UMLS:C1421396, + HGNC:12617, + HGNC_symbol:USP19 ; biolink:category biolink:Gene . OMIM:614472 a owl:Class ; rdfs:label "RNF123" ; IAO:0000142 PMID:15531880, PMID:19015242 ; - oboInOwl:hasDbXref UMLS:C1427363 ; oboInOwl:hasExactSynonym "RNF123", "kip1 ubiquitination-promoting complex 1", "ring finger protein 123" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63891 ; - skos:exactMatch HGNC_symbol:RNF123 ; + skos:exactMatch UMLS:C1427363, + HGNC:21148, + HGNC_symbol:RNF123 ; biolink:category biolink:Gene . OMIM:614473 a owl:Class ; @@ -326186,10 +339668,10 @@ OMIM:614473 a owl:Class ; PMID:16573612, PMID:20034067, PMID:22209248 ; - oboInOwl:hasDbXref UMLS:C3276161 ; oboInOwl:hasExactSynonym "GACI2", "arterial calcification, generalized, of infancy, 2" ; rdfs:subClassOf OMIMPS:208000 ; + skos:exactMatch UMLS:C3276161 ; biolink:category biolink:Disease . OMIM:614474 a owl:Class ; @@ -326197,19 +339679,19 @@ OMIM:614474 a owl:Class ; IAO:0000142 PMID:1534968, PMID:17105897, PMID:20581743 ; - oboInOwl:hasDbXref UMLS:C3280939 ; oboInOwl:hasExactSynonym "AVSD5", "atrioventricular septal defect 5" ; rdfs:subClassOf OMIMPS:606215 ; + skos:exactMatch UMLS:C3280939 ; biolink:category biolink:Disease . OMIM:614475 a owl:Class ; rdfs:label "atrial septal defect 9" ; IAO:0000142 PMID:20631719 ; - oboInOwl:hasDbXref UMLS:C3280943 ; oboInOwl:hasExactSynonym "ASD9", "atrial septal defect 9" ; rdfs:subClassOf OMIMPS:108800 ; + skos:exactMatch UMLS:C3280943 ; biolink:category biolink:Disease . OMIM:614476 a owl:Class ; @@ -326218,13 +339700,14 @@ OMIM:614476 a owl:Class ; PMID:21880733 ; RO:0002525 CHR:9606chr15q23 ; RO:0003303 OMIM:619825 ; - oboInOwl:hasDbXref UMLS:C1823276 ; oboInOwl:hasExactSynonym "THSD4", "adamts-like protein 6", "thrombospondin type-1 domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79875 ; - skos:exactMatch HGNC_symbol:THSD4 ; + skos:exactMatch UMLS:C1823276, + HGNC:25835, + HGNC_symbol:THSD4 ; biolink:category biolink:Gene . OMIM:614477 a owl:Class ; @@ -326236,13 +339719,14 @@ OMIM:614477 a owl:Class ; PMID:27008867 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:614500 ; - oboInOwl:hasDbXref UMLS:C1824246 ; oboInOwl:hasExactSynonym "CFAP418", "chromosome 8 open reading frame 37", "cilia- and flagella-associated protein 418" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157657 ; - skos:exactMatch HGNC_symbol:CFAP418 ; + skos:exactMatch UMLS:C1824246, + HGNC:27232, + HGNC_symbol:CFAP418 ; biolink:category biolink:Gene . OMIM:614478 a owl:Class ; @@ -326251,40 +339735,43 @@ OMIM:614478 a owl:Class ; PMID:22356826 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:619053 ; - oboInOwl:hasDbXref UMLS:C1824382, - UMLS:C5436692 ; oboInOwl:hasExactSynonym "COX14", "chromosome 12 open reading frame 62", "cox14, s. cerevisiae, homolog of", "cytochrome c oxidase assembly factor cox14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84987 ; - skos:exactMatch HGNC_symbol:COX14 ; + skos:exactMatch UMLS:C1824382, + UMLS:C5436692, + HGNC:28216, + HGNC_symbol:COX14 ; biolink:category biolink:Gene . OMIM:614479 a owl:Class ; rdfs:label "MCAT" ; IAO:0000142 PMID:12882974 ; - oboInOwl:hasDbXref UMLS:C1825950 ; oboInOwl:hasExactSynonym "MCAT", "malonyl coa:acp acyltransferase, mitochondrial", "mitochondrial malonyltransferase", "mt, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27349 ; - skos:exactMatch HGNC_symbol:MCAT ; + skos:exactMatch UMLS:C1825950, + HGNC:29622, + HGNC_symbol:MCAT ; biolink:category biolink:Gene . OMIM:614481 a owl:Class ; rdfs:label "ATXN7AS1" ; IAO:0000142 PMID:21689595 ; - oboInOwl:hasDbXref UMLS:C3280964 ; oboInOwl:hasExactSynonym "ATXN7AS1", "atxn7 antisense RNA 1", "sca7 antisense noncoding transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100861563 ; - skos:exactMatch HGNC_symbol:SCAANT1 ; + skos:exactMatch UMLS:C3280964, + HGNC:43718, + HGNC_symbol:SCAANT1 ; biolink:category biolink:Gene . OMIM:614482 a owl:Class ; @@ -326292,9 +339779,9 @@ OMIM:614482 a owl:Class ; IAO:0000142 PMID:15902551, PMID:22243965, PMID:22508683 ; - oboInOwl:hasDbXref UMLS:C3280965 ; oboInOwl:hasExactSynonym "CCHLND", "congenital cataracts, hearing loss, and neurodegeneration" ; + skos:exactMatch UMLS:C3280965 ; biolink:category biolink:Disease . OMIM:614483 a owl:Class ; @@ -326302,26 +339789,27 @@ OMIM:614483 a owl:Class ; IAO:0000142 PMID:22209246, PMID:30315939, PMID:30413629 ; - oboInOwl:hasDbXref UMLS:C3280970, - ORPHA:2940, - ORPHA:99810 ; oboInOwl:hasExactSynonym "BSVD2", "brain small vessel disease 2", "porencephaly 2, formerly" ; rdfs:subClassOf OMIMPS:175780 ; + skos:exactMatch UMLS:C3280970, + ORPHA:2940, + ORPHA:99810 ; biolink:category biolink:Disease . OMIM:614484 a owl:Class ; rdfs:label "ANAPC13" ; IAO:0000142 PMID:15060174 ; - oboInOwl:hasDbXref UMLS:C1538274 ; oboInOwl:hasExactSynonym "ANAPC13", "anaphase-promoting complex, subunit 13", "apc13", "swm1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25847 ; - skos:exactMatch HGNC_symbol:ANAPC13 ; + skos:exactMatch UMLS:C1538274, + HGNC:24540, + HGNC_symbol:ANAPC13 ; biolink:category biolink:Gene . OMIM:614486 a owl:Class ; @@ -326336,10 +339824,10 @@ OMIM:614486 a owl:Class ; PMID:23332921, PMID:7811989, PMID:9843165 ; - oboInOwl:hasDbXref UMLS:C3280976 ; oboInOwl:hasExactSynonym "THPH12", "thrombophilia due to thrombomodulin defect" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C3280976 ; biolink:category biolink:Disease . OMIM:614487 a owl:Class ; @@ -326347,35 +339835,37 @@ OMIM:614487 a owl:Class ; IAO:0000142 PMID:22022284, PMID:25401298, PMID:32219868 ; - oboInOwl:hasDbXref UMLS:C3280977, - ORPHA:313772 ; oboInOwl:hasExactSynonym "SPAX5", "spastic ataxia 5, autosomal recessive" ; rdfs:subClassOf OMIMPS:108600 ; + skos:exactMatch UMLS:C3280977, + ORPHA:313772 ; biolink:category biolink:Disease . OMIM:614488 a owl:Class ; rdfs:label "MIR1258" ; IAO:0000142 PMID:21266359 ; - oboInOwl:hasDbXref UMLS:C2681738 ; oboInOwl:hasExactSynonym "MIR1258", "micro RNA 1258", "mirna1258" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100302172 ; - skos:exactMatch HGNC_symbol:MIR1258 ; + skos:exactMatch UMLS:C2681738, + HGNC:35323, + HGNC_symbol:MIR1258 ; biolink:category biolink:Gene . OMIM:614489 a owl:Class ; rdfs:label "MIR616" ; IAO:0000142 PMID:21224345 ; - oboInOwl:hasDbXref UMLS:C1826195 ; oboInOwl:hasExactSynonym "MIR616", "micro RNA 616", "mirna616" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693201 ; - skos:exactMatch HGNC_symbol:MIR616 ; + skos:exactMatch UMLS:C1826195, + HGNC:32872, + HGNC_symbol:MIR616 ; biolink:category biolink:Gene . OMIM:614490 a owl:Class ; @@ -326386,44 +339876,47 @@ OMIM:614490 a owl:Class ; PMID:22246507, PMID:567888, PMID:8146983 ; - oboInOwl:hasDbXref UMLS:C3280986 ; oboInOwl:hasExactSynonym "JR", "blood group, junior system" ; + skos:exactMatch UMLS:C3280986 ; biolink:category biolink:Disease . OMIM:614497 a owl:Class ; rdfs:label "microphthalmia, isolated, with coloboma 7" ; IAO:0000142 PMID:19504436, PMID:22226084 ; - oboInOwl:hasDbXref UMLS:C3281027 ; oboInOwl:hasExactSynonym "MCOPCB7", "microphthalmia, isolated, with coloboma 7" ; rdfs:subClassOf OMIMPS:300345 ; + skos:exactMatch UMLS:C3281027 ; biolink:category biolink:Disease . OMIM:614502 a owl:Class ; rdfs:label "PIERCE1" ; IAO:0000142 PMID:21159655 ; - oboInOwl:hasDbXref UMLS:C1428708 ; oboInOwl:hasExactSynonym "PIERCE1", "chromosome 9 open reading frame 116", "p53-induced expression 1n rb-null cells 1", "piercer of microtubule wall 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:138162 ; + skos:exactMatch UMLS:C1428708, + HGNC:28435, + HGNC_symbol:PIERCE1 ; biolink:category biolink:Gene . OMIM:614503 a owl:Class ; rdfs:label "KLHDC8A" ; IAO:0000142 PMID:20133782 ; - oboInOwl:hasDbXref UMLS:C1825722 ; oboInOwl:hasExactSynonym "KLHDC8A", "kelch domain-containing protein 8a", "s-delta-e1", "substitute for delta-egfr expression 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55220 ; - skos:exactMatch HGNC_symbol:KLHDC8A ; + skos:exactMatch UMLS:C1825722, + HGNC:25573, + HGNC_symbol:KLHDC8A ; biolink:category biolink:Gene . OMIM:614505 a owl:Class ; @@ -326433,12 +339926,13 @@ OMIM:614505 a owl:Class ; PMID:27149304 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:614557 ; - oboInOwl:hasDbXref UMLS:C1425657 ; oboInOwl:hasExactSynonym "FKBP14", "fk506-binding protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55033 ; - skos:exactMatch HGNC_symbol:FKBP14 ; + skos:exactMatch UMLS:C1425657, + HGNC:18625, + HGNC_symbol:FKBP14 ; biolink:category biolink:Gene . OMIM:614506 a owl:Class ; @@ -326454,14 +339948,15 @@ OMIM:614506 a owl:Class ; PMID:27282546 ; RO:0002525 CHR:9606chr7p22.3 ; RO:0003303 OMIM:614498 ; - oboInOwl:hasDbXref UMLS:C1427704 ; oboInOwl:hasExactSynonym "BRAT1", "baat1", "brca1-associated atm activator 1", "chromosome 7 open reading frame 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221927 ; - skos:exactMatch HGNC_symbol:BRAT1 ; + skos:exactMatch UMLS:C1427704, + HGNC:21701, + HGNC_symbol:BRAT1 ; biolink:category biolink:Gene . OMIM:614508 a owl:Class ; @@ -326471,10 +339966,10 @@ OMIM:614508 a owl:Class ; PMID:24808016, PMID:25813273, PMID:27830107 ; - oboInOwl:hasDbXref UMLS:C3281089 ; oboInOwl:hasExactSynonym "MRMV2", "mirror movements 2" ; rdfs:subClassOf OMIMPS:157600 ; + skos:exactMatch UMLS:C3281089 ; biolink:category biolink:Disease . OMIM:614509 a owl:Class ; @@ -326482,38 +339977,41 @@ OMIM:614509 a owl:Class ; IAO:0000142 PMID:16039986, PMID:21212412, PMID:25027842 ; - oboInOwl:hasDbXref UMLS:C1537754 ; oboInOwl:hasExactSynonym "MIR99A", "micro RNA 99a", "mirna99a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407055 ; - skos:exactMatch HGNC_symbol:MIR99A ; + skos:exactMatch UMLS:C1537754, + HGNC:31650, + HGNC_symbol:MIR99A ; biolink:category biolink:Gene . OMIM:614510 a owl:Class ; rdfs:label "MIR99B" ; IAO:0000142 PMID:21212412 ; - oboInOwl:hasDbXref UMLS:C1537755 ; oboInOwl:hasExactSynonym "MIR99B", "micro RNA 99b", "mirna99b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407056 ; - skos:exactMatch HGNC_symbol:MIR99B ; + skos:exactMatch UMLS:C1537755, + HGNC:31651, + HGNC_symbol:MIR99B ; biolink:category biolink:Gene . OMIM:614511 a owl:Class ; rdfs:label "MDFIC" ; IAO:0000142 PMID:10671520, PMID:17064770 ; - oboInOwl:hasDbXref UMLS:C1537673 ; oboInOwl:hasExactSynonym "MDFIC", "imfa domain-containing protein", "myod family inhibitor domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29969 ; - skos:exactMatch HGNC_symbol:MDFIC ; + skos:exactMatch UMLS:C1537673, + HGNC:28870, + HGNC_symbol:MDFIC ; biolink:category biolink:Gene . OMIM:614512 a owl:Class ; @@ -326526,27 +340024,29 @@ OMIM:614512 a owl:Class ; PMID:25425325 ; RO:0002525 CHR:9606chr1q25.2 ; RO:0003303 OMIM:617072 ; - oboInOwl:hasDbXref UMLS:C1823464 ; oboInOwl:hasExactSynonym "TOR1AIP1", "lamin-associated protein 1", "lap1b", "torsin a-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26092 ; - skos:exactMatch HGNC_symbol:TOR1AIP1 ; + skos:exactMatch UMLS:C1823464, + HGNC:29456, + HGNC_symbol:TOR1AIP1 ; biolink:category biolink:Gene . OMIM:614513 a owl:Class ; rdfs:label "TOR1AIP2" ; IAO:0000142 PMID:15767459, PMID:19339278 ; - oboInOwl:hasDbXref UMLS:C1823465 ; oboInOwl:hasExactSynonym "TOR1AIP2", "luminal domain like lap1", "torsin a-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163590 ; - skos:exactMatch HGNC_symbol:TOR1AIP2 ; + skos:exactMatch UMLS:C1823465, + HGNC:24055, + HGNC_symbol:TOR1AIP2 ; biolink:category biolink:Gene . OMIM:614515 a owl:Class ; @@ -326556,41 +340056,44 @@ OMIM:614515 a owl:Class ; PMID:22325362 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:614565 ; - oboInOwl:hasDbXref UMLS:C1825411 ; oboInOwl:hasExactSynonym "GPR179", "g protein-coupled receptor 179", "gpr158-like", "gpr158l1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440435 ; - skos:exactMatch HGNC_symbol:GPR179 ; + skos:exactMatch UMLS:C1825411, + HGNC:31371, + HGNC_symbol:GPR179 ; biolink:category biolink:Gene . OMIM:614516 a owl:Class ; rdfs:label "DOLPP1" ; IAO:0000142 PMID:10369878, PMID:12198133 ; - oboInOwl:hasDbXref UMLS:C1428875 ; oboInOwl:hasExactSynonym "DOLPP1", "dolichyl pyrophosphate phosphatase 1", "lsfr2, pufferfish, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57171 ; - skos:exactMatch HGNC_symbol:DOLPP1 ; + skos:exactMatch UMLS:C1428875, + HGNC:29565, + HGNC_symbol:DOLPP1 ; biolink:category biolink:Gene . OMIM:614517 a owl:Class ; rdfs:label "ARNTL2" ; IAO:0000142 PMID:10964693, PMID:11018023 ; - oboInOwl:hasDbXref UMLS:C1425931 ; oboInOwl:hasExactSynonym "ARNTL2", "aryl hydrocarbon receptor nuclear translocator-like protein 2", "brain and muscle arnt-like protein 2", "cycle-like factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56938 ; - skos:exactMatch HGNC_symbol:ARNTL2 ; + skos:exactMatch UMLS:C1425931, + HGNC:18984, + HGNC_symbol:ARNTL2 ; biolink:category biolink:Gene . OMIM:614518 a owl:Class ; @@ -326599,13 +340102,14 @@ OMIM:614518 a owl:Class ; PMID:21965549 ; RO:0002525 CHR:9606chr7q21.2 ; RO:0003303 OMIM:614672 ; - oboInOwl:hasDbXref UMLS:C1539551 ; oboInOwl:hasExactSynonym "GATAD1", "gata zinc finger domain-containing protein 1", "ocular development-associated gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57798 ; - skos:exactMatch HGNC_symbol:GATAD1 ; + skos:exactMatch UMLS:C1539551, + HGNC:29941, + HGNC_symbol:GATAD1 ; biolink:category biolink:Gene . OMIM:614520 a owl:Class ; @@ -326614,8 +340118,8 @@ OMIM:614520 a owl:Class ; PMID:15254372, PMID:7521503, PMID:8726225 ; - oboInOwl:hasDbXref UMLS:C3281106 ; - oboInOwl:hasExactSynonym "encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency" . + oboInOwl:hasExactSynonym "encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency" ; + skos:exactMatch UMLS:C3281106 . OMIM:614521 a owl:Class ; rdfs:label "thrombocythemia 3" ; @@ -326626,11 +340130,11 @@ OMIM:614521 a owl:Class ; PMID:6837574, PMID:7053766, PMID:7296002 ; - oboInOwl:hasDbXref UMLS:C3281125 ; oboInOwl:hasExactSynonym "THCYT3", "thrombocythemia 3", "thrombocytosis 3" ; rdfs:subClassOf OMIMPS:187950 ; + skos:exactMatch UMLS:C3281125 ; biolink:category biolink:Disease . OMIM:614522 a owl:Class ; @@ -326638,13 +340142,14 @@ OMIM:614522 a owl:Class ; IAO:0000142 PMID:15383316, PMID:18303015, PMID:22358839 ; - oboInOwl:hasDbXref UMLS:C1426191 ; oboInOwl:hasExactSynonym "KLHL12", "dkir", "kelch-like 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59349 ; - skos:exactMatch HGNC_symbol:KLHL12 ; + skos:exactMatch UMLS:C1426191, + HGNC:19360, + HGNC_symbol:KLHL12 ; biolink:category biolink:Gene . OMIM:614523 a owl:Class ; @@ -326652,35 +340157,37 @@ OMIM:614523 a owl:Class ; IAO:0000142 PMID:20700123, PMID:22358842, PMID:26828271 ; - oboInOwl:hasDbXref UMLS:C1826043 ; oboInOwl:hasExactSynonym "MIR489", "micro RNA 489", "mirna489" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574442 ; - skos:exactMatch HGNC_symbol:MIR489 ; + skos:exactMatch UMLS:C1826043, + HGNC:32074, + HGNC_symbol:MIR489 ; biolink:category biolink:Gene . OMIM:614524 a owl:Class ; rdfs:label "fibrochondrogenesis 2" ; IAO:0000142 PMID:22246659 ; - oboInOwl:hasDbXref UMLS:C3281128 ; oboInOwl:hasExactSynonym "FBCG2", "fibrochondrogenesis 2" ; rdfs:subClassOf OMIMPS:228520 ; + skos:exactMatch UMLS:C3281128 ; biolink:category biolink:Disease . OMIM:614525 a owl:Class ; rdfs:label "NFATC2IP" ; IAO:0000142 PMID:20133688, PMID:8943202 ; - oboInOwl:hasDbXref UMLS:C1538056 ; oboInOwl:hasExactSynonym "NFATC2IP", "nfat-interacting protein, 45-kd", "nfatc2-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84901 ; - skos:exactMatch HGNC_symbol:NFATC2IP ; + skos:exactMatch UMLS:C1538056, + HGNC:25906, + HGNC_symbol:NFATC2IP ; biolink:category biolink:Gene . OMIM:614526 a owl:Class ; @@ -326692,8 +340199,8 @@ OMIM:614526 a owl:Class ; PMID:20621612, PMID:21844811 ; RO:0002525 CHR:9606chr17q12 ; - oboInOwl:hasDbXref UMLS:C3281137 ; oboInOwl:hasExactSynonym "chromosome 17q12 duplication syndrome" ; + skos:exactMatch UMLS:C3281137 ; biolink:category biolink:Disease . OMIM:614527 a owl:Class ; @@ -326707,22 +340214,23 @@ OMIM:614527 a owl:Class ; PMID:21055719, PMID:21844811 ; RO:0002525 CHR:9606chr17q12 ; - oboInOwl:hasDbXref UMLS:C3281138 ; oboInOwl:hasExactSynonym "chromosome 17q12 deletion syndrome" ; + skos:exactMatch UMLS:C3281138 ; biolink:category biolink:Disease . OMIM:614528 a owl:Class ; rdfs:label "HIF1AAS1" ; IAO:0000142 PMID:19854946, PMID:21897117 ; - oboInOwl:hasDbXref UMLS:C3281139 ; oboInOwl:hasExactSynonym "HIF1AAS1", "ahif1a, 5-prime", "antisense hif1-alpha, 5-prime", "hif1a antisense RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100750246 ; - skos:exactMatch HGNC_symbol:HIF1A-AS1 ; + skos:exactMatch UMLS:C3281139, + HGNC:43014, + HGNC_symbol:HIF1A-AS1 ; biolink:category biolink:Gene . OMIM:614529 a owl:Class ; @@ -326730,7 +340238,6 @@ OMIM:614529 a owl:Class ; IAO:0000142 PMID:19854946, PMID:21897117, PMID:9923855 ; - oboInOwl:hasDbXref UMLS:C3281140 ; oboInOwl:hasExactSynonym "HIF1AAS2", "ahifia, 3-prime", "antisense hif1-alpha", @@ -326738,7 +340245,9 @@ OMIM:614529 a owl:Class ; "hif1a antisense RNA 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100750247 ; - skos:exactMatch HGNC_symbol:HIF1A-AS2 ; + skos:exactMatch UMLS:C3281140, + HGNC:43015, + HGNC_symbol:HIF1A-AS2 ; biolink:category biolink:Gene . OMIM:614530 a owl:Class ; @@ -326747,26 +340256,28 @@ OMIM:614530 a owl:Class ; PMID:21617257 ; RO:0002525 CHR:9606chr12q22 ; RO:0003303 OMIM:618244 ; - oboInOwl:hasDbXref UMLS:C1826391 ; oboInOwl:hasExactSynonym "NDUFA12", "b17.2", "nadh-ubiquinone oxidoreductase 1 alpha subcomplex 12", "nadh-ubiquinone oxidoreductase subunit a12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55967 ; - skos:exactMatch HGNC_symbol:NDUFA12 ; + skos:exactMatch UMLS:C1826391, + HGNC:23987, + HGNC_symbol:NDUFA12 ; biolink:category biolink:Gene . OMIM:614531 a owl:Class ; rdfs:label "RASGEF1A" ; IAO:0000142 PMID:17121879, PMID:19645719 ; - oboInOwl:hasDbXref UMLS:C1428364 ; oboInOwl:hasExactSynonym "RASGEF1A", "rasgef domain family, member 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221002 ; - skos:exactMatch HGNC_symbol:RASGEF1A ; + skos:exactMatch UMLS:C1428364, + HGNC:24246, + HGNC_symbol:RASGEF1A ; biolink:category biolink:Gene . OMIM:614532 a owl:Class ; @@ -326774,27 +340285,29 @@ OMIM:614532 a owl:Class ; IAO:0000142 PMID:12488504, PMID:19645719, PMID:20090772 ; - oboInOwl:hasDbXref UMLS:C1428423 ; oboInOwl:hasExactSynonym "RASGEF1B", "gpi-gamma-4", "rasgef domain family, member 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153020 ; - skos:exactMatch HGNC_symbol:RASGEF1B ; + skos:exactMatch UMLS:C1428423, + HGNC:24881, + HGNC_symbol:RASGEF1B ; biolink:category biolink:Gene . OMIM:614533 a owl:Class ; rdfs:label "CDC26" ; IAO:0000142 PMID:10922056, PMID:8895471 ; - oboInOwl:hasDbXref UMLS:C1425120 ; oboInOwl:hasExactSynonym "CDC26", "anaphase-promoting complex, subunit 12", "cell division cycle 26", "cell division cycle 26, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246184 ; - skos:exactMatch HGNC_symbol:CDC26 ; + skos:exactMatch UMLS:C1425120, + HGNC:17839, + HGNC_symbol:CDC26 ; biolink:category biolink:Gene . OMIM:614534 a owl:Class ; @@ -326802,13 +340315,14 @@ OMIM:614534 a owl:Class ; IAO:0000142 PMID:10922056, PMID:11739784, PMID:21926987 ; - oboInOwl:hasDbXref UMLS:C1422660 ; oboInOwl:hasExactSynonym "ANAPC11", "anaphase-promoting complex subunit 11", "apc11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51529 ; - skos:exactMatch HGNC_symbol:ANAPC11 ; + skos:exactMatch UMLS:C1422660, + HGNC:14452, + HGNC_symbol:ANAPC11 ; biolink:category biolink:Gene . OMIM:614535 a owl:Class ; @@ -326817,20 +340331,20 @@ OMIM:614535 a owl:Class ; PMID:21965664 ; RO:0002525 CHR:9606chr17p12 ; RO:0003303 OMIM:619831 ; - oboInOwl:hasDbXref UMLS:C2240224 ; oboInOwl:hasExactSynonym "ZSWIM7", "swim domain-containing srs2-interacting protein 1", "swim-type zinc finger domain-containing protein 7", "zinc finger swim domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125150 ; - skos:exactMatch HGNC_symbol:ZSWIM7 ; + skos:exactMatch UMLS:C2240224, + HGNC:26993, + HGNC_symbol:ZSWIM7 ; biolink:category biolink:Gene . OMIM:614536 a owl:Class ; rdfs:label "SWSAP1" ; IAO:0000142 PMID:21965664 ; - oboInOwl:hasDbXref UMLS:C1824480 ; oboInOwl:hasExactSynonym "SWSAP1", "chromosome 19 open reading frame 39", "swim-type zinc finger domain-containing protein 7-associated protein 1", @@ -326838,7 +340352,9 @@ OMIM:614536 a owl:Class ; "zswim7-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126074 ; - skos:exactMatch HGNC_symbol:SWSAP1 ; + skos:exactMatch UMLS:C1824480, + HGNC:26638, + HGNC_symbol:SWSAP1 ; biolink:category biolink:Gene . OMIM:614537 a owl:Class ; @@ -326847,25 +340363,27 @@ OMIM:614537 a owl:Class ; PMID:23395477 ; RO:0002525 CHR:9606chr10q22.2-q22.3 ; RO:0003303 OMIM:615179 ; - oboInOwl:hasDbXref UMLS:C1428073 ; oboInOwl:hasExactSynonym "LRMDA", "chromosome 10 open reading frame 11", "leucine-rich melanocyte differentiation-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83938 ; - skos:exactMatch HGNC_symbol:LRMDA ; + skos:exactMatch UMLS:C1428073, + HGNC:23405, + HGNC_symbol:LRMDA ; biolink:category biolink:Gene . OMIM:614538 a owl:Class ; rdfs:label "MIR570" ; IAO:0000142 PMID:22190470 ; - oboInOwl:hasDbXref UMLS:C1826149 ; oboInOwl:hasExactSynonym "MIR570", "micro RNA 570", "mirna570" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693155 ; - skos:exactMatch HGNC_symbol:MIR570 ; + skos:exactMatch UMLS:C1826149, + HGNC:32826, + HGNC_symbol:MIR570 ; biolink:category biolink:Gene . OMIM:614539 a owl:Class ; @@ -326873,14 +340391,15 @@ OMIM:614539 a owl:Class ; IAO:0000142 PMID:11557815, PMID:12181327, PMID:22194613 ; - oboInOwl:hasDbXref UMLS:C1424812 ; oboInOwl:hasExactSynonym "DNA helicase B", "HELB", "hdhb", "helicase, dna, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92797 ; - skos:exactMatch HGNC_symbol:HELB ; + skos:exactMatch UMLS:C1424812, + HGNC:17196, + HGNC_symbol:HELB ; biolink:category biolink:Gene . OMIM:614540 a owl:Class ; @@ -326896,41 +340415,44 @@ OMIM:614541 a owl:Class ; PMID:8230159, PMID:914282 ; RO:0002525 CHR:9606chr16q22 ; - oboInOwl:hasDbXref UMLS:C3281152 ; oboInOwl:hasExactSynonym "chromosome 16q22 deletion syndrome" ; + skos:exactMatch UMLS:C3281152 ; biolink:category biolink:Disease . OMIM:614542 a owl:Class ; rdfs:label "FAM69A" ; IAO:0000142 PMID:21334309 ; - oboInOwl:hasDbXref UMLS:C1825130 ; oboInOwl:hasExactSynonym "FAM69A", "family with sequence similarity 69, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388650 ; - skos:exactMatch HGNC_symbol:DIPK1A ; + skos:exactMatch UMLS:C1825130, + HGNC:32213, + HGNC_symbol:DIPK1A ; biolink:category biolink:Gene . OMIM:614543 a owl:Class ; rdfs:label "FAM69B" ; IAO:0000142 PMID:21334309 ; - oboInOwl:hasDbXref UMLS:C1825131 ; oboInOwl:hasExactSynonym "FAM69B", "family with sequence similarity 69, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:138311 ; - skos:exactMatch HGNC_symbol:DIPK1B ; + skos:exactMatch UMLS:C1825131, + HGNC:28290, + HGNC_symbol:DIPK1B ; biolink:category biolink:Gene . OMIM:614544 a owl:Class ; rdfs:label "FAM69C" ; IAO:0000142 PMID:21334309 ; - oboInOwl:hasDbXref UMLS:C2829366 ; oboInOwl:hasExactSynonym "FAM69C", "family with sequence similarity 69, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125704 ; - skos:exactMatch HGNC_symbol:DIPK1C ; + skos:exactMatch UMLS:C2829366, + HGNC:31729, + HGNC_symbol:DIPK1C ; biolink:category biolink:Gene . OMIM:614545 a owl:Class ; @@ -326938,7 +340460,6 @@ OMIM:614545 a owl:Class ; IAO:0000142 PMID:20680400 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:619264 ; - oboInOwl:hasDbXref UMLS:C2240327 ; oboInOwl:hasExactSynonym "EMC10", "chromosome 19 open reading frame 63", "endoplasmic reticulum membrane protein complex, subunit 10", @@ -326947,19 +340468,22 @@ OMIM:614545 a owl:Class ; "hematopoietic signal peptide-containing secreted protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284361 ; - skos:exactMatch HGNC_symbol:EMC10 ; + skos:exactMatch UMLS:C2240327, + HGNC:27609, + HGNC_symbol:EMC10 ; biolink:category biolink:Gene . OMIM:614547 a owl:Class ; rdfs:label "FAM103A1" ; IAO:0000142 PMID:22099306 ; - oboInOwl:hasDbXref UMLS:C1825228 ; oboInOwl:hasExactSynonym "FAM103A1", "family with sequence similarity 103, member a1", "rnmt-activating miniprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83640 ; - skos:exactMatch HGNC_symbol:RAMAC ; + skos:exactMatch UMLS:C1825228, + HGNC:31022, + HGNC_symbol:RAMAC ; biolink:category biolink:Gene . OMIM:614548 a owl:Class ; @@ -326967,38 +340491,41 @@ OMIM:614548 a owl:Class ; IAO:0000142 PMID:10574462, PMID:10637174, PMID:16120614 ; - oboInOwl:hasDbXref UMLS:C1822679 ; oboInOwl:hasExactSynonym "SERINC1", "kiaa1253", "serine incorporator 1", "tms2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57515 ; - skos:exactMatch HGNC_symbol:SERINC1 ; + skos:exactMatch UMLS:C1822679, + HGNC:13464, + HGNC_symbol:SERINC1 ; biolink:category biolink:Gene . OMIM:614549 a owl:Class ; rdfs:label "SERINC2" ; IAO:0000142 PMID:12949800, PMID:16120614 ; - oboInOwl:hasDbXref UMLS:C1822680 ; oboInOwl:hasExactSynonym "SERINC2", "serine incorporator 2", "tumor differentially expressed gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347735 ; - skos:exactMatch HGNC_symbol:SERINC2 ; + skos:exactMatch UMLS:C1822680, + HGNC:23231, + HGNC_symbol:SERINC2 ; biolink:category biolink:Gene . OMIM:614550 a owl:Class ; rdfs:label "SERINC4" ; IAO:0000142 PMID:16120614 ; - oboInOwl:hasDbXref UMLS:C1822682 ; oboInOwl:hasExactSynonym "SERINC4", "serine incorporator 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:619189 ; - skos:exactMatch HGNC_symbol:SERINC4 ; + skos:exactMatch UMLS:C1822682, + HGNC:32237, + HGNC_symbol:SERINC4 ; biolink:category biolink:Gene . OMIM:614551 a owl:Class ; @@ -327007,64 +340534,69 @@ OMIM:614551 a owl:Class ; PMID:16120614, PMID:26416733, PMID:26416734 ; - oboInOwl:hasDbXref UMLS:C1822683 ; oboInOwl:hasExactSynonym "SERINC5", "chromosome 5 open reading frame 12", "serine incorporator 5", "tpo1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256987 ; - skos:exactMatch HGNC_symbol:SERINC5 ; + skos:exactMatch UMLS:C1822683, + HGNC:18825, + HGNC_symbol:SERINC5 ; biolink:category biolink:Gene . OMIM:614552 a owl:Class ; rdfs:label "XXYLT1" ; IAO:0000142 PMID:22117070 ; - oboInOwl:hasDbXref UMLS:C1540232 ; oboInOwl:hasExactSynonym "XXYLT1", "chromosome 3 open reading frame 21", "xyloside xylosyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152002 ; - skos:exactMatch HGNC_symbol:XXYLT1 ; + skos:exactMatch UMLS:C1540232, + HGNC:26639, + HGNC_symbol:XXYLT1 ; biolink:category biolink:Gene . OMIM:614553 a owl:Class ; rdfs:label "N6AMT1" ; IAO:0000142 PMID:21193388 ; - oboInOwl:hasDbXref UMLS:C1826338 ; oboInOwl:hasExactSynonym "N6AMT1", "chromosome 21 open reading frame 127", "n6 adenine-specific DNA methyltransferase 1", "n6 adenine-specific DNA methyltransferase 1, putative" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29104 ; - skos:exactMatch HGNC_symbol:N6AMT1 ; + skos:exactMatch UMLS:C1826338, + HGNC:16021, + HGNC_symbol:N6AMT1 ; biolink:category biolink:Gene . OMIM:614554 a owl:Class ; rdfs:label "FAM32A" ; IAO:0000142 PMID:21339736 ; - oboInOwl:hasDbXref UMLS:C1428387 ; oboInOwl:hasExactSynonym "FAM32A", "family with sequence similarity 32, member a", "ovarian tumor-associated gene 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26017 ; - skos:exactMatch HGNC_symbol:FAM32A ; + skos:exactMatch UMLS:C1428387, + HGNC:24563, + HGNC_symbol:FAM32A ; biolink:category biolink:Gene . OMIM:614555 a owl:Class ; rdfs:label "FRMD6" ; IAO:0000142 PMID:16137681 ; - oboInOwl:hasDbXref UMLS:C1825314 ; oboInOwl:hasExactSynonym "FRMD6", "chromosome 14 open reading frame 31", "ferm domain-containing protein 6", "willin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122786 ; - skos:exactMatch HGNC_symbol:FRMD6 ; + skos:exactMatch UMLS:C1825314, + HGNC:19839, + HGNC_symbol:FRMD6 ; biolink:category biolink:Gene . OMIM:614556 a owl:Class ; @@ -327079,7 +340611,6 @@ OMIM:614556 a owl:Class ; PMID:28323383 ; RO:0002525 CHR:9606chr6q25.3 ; RO:0003303 OMIM:135900 ; - oboInOwl:hasDbXref UMLS:C1425260 ; oboInOwl:hasExactSynonym "ARID1B", "arid-containing protein 1b", "at-rich interaction domain-containing protein 1b", @@ -327088,7 +340619,9 @@ OMIM:614556 a owl:Class ; "kiaa1235" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57492 ; - skos:exactMatch HGNC_symbol:ARID1B ; + skos:exactMatch UMLS:C1425260, + HGNC:18040, + HGNC_symbol:ARID1B ; biolink:category biolink:Gene . OMIM:614558 a owl:Class ; @@ -327098,12 +340631,12 @@ OMIM:614558 a owl:Class ; PMID:24888894, PMID:25239001, PMID:25725044 ; - oboInOwl:hasDbXref UMLS:C3281191, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE13", "developmental and epileptic encephalopathy 13", "epileptic encephalopathy, early infantile, 13" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3281191, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:614560 a owl:Class ; @@ -327114,7 +340647,6 @@ OMIM:614560 a owl:Class ; PMID:25173104, PMID:31753851, PMID:31780627 ; - oboInOwl:hasDbXref UMLS:C1428798 ; oboInOwl:hasExactSynonym "MAU2", "kiaa0892", "mau2 chromatid cohesion factor, c. elegans, homolog of", @@ -327122,7 +340654,9 @@ OMIM:614560 a owl:Class ; "sister chromatid cohesion 4, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23383 ; - skos:exactMatch HGNC_symbol:MAU2 ; + skos:exactMatch UMLS:C1428798, + HGNC:29140, + HGNC_symbol:MAU2 ; biolink:category biolink:Gene . OMIM:614562 a owl:Class ; @@ -327137,22 +340671,22 @@ OMIM:614563 a owl:Class ; PMID:22368300, PMID:23603762, PMID:25140959 ; - oboInOwl:hasDbXref UMLS:C3281202 ; oboInOwl:hasExactSynonym "MRD13", "intellectual developmental disorder, autosomal dominant 13", "mental retardation, autosomal dominant 13", "mental retardation, autosomal dominant 13, with neuronal migration defects" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C3281202 ; biolink:category biolink:Disease . OMIM:614564 a owl:Class ; rdfs:label "cutaneous telangiectasia and cancer syndrome, familial" ; IAO:0000142 PMID:22341969 ; - oboInOwl:hasDbXref UMLS:C3281203, - ORPHA:313846 ; oboInOwl:hasExactSynonym "FCTCS", "cutaneous telangiectasia and cancer syndrome, familial", "telangiectasia, cutaneous, and cancer syndrome, familial" ; + skos:exactMatch UMLS:C3281203, + ORPHA:313846 ; biolink:category biolink:Disease . OMIM:614566 a owl:Class ; @@ -327162,14 +340696,15 @@ OMIM:614566 a owl:Class ; PMID:22387996 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:606763 ; - oboInOwl:hasDbXref UMLS:C1824492 ; oboInOwl:hasExactSynonym "DNAAF3", "dynein assembly blocked 1, chlamydomonas, homolog of", "dynein, axonemal, assembly factor 3", "pf22, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:352909 ; - skos:exactMatch HGNC_symbol:DNAAF3 ; + skos:exactMatch UMLS:C1824492, + HGNC:30492, + HGNC_symbol:DNAAF3 ; biolink:category biolink:Gene . OMIM:614567 a owl:Class ; @@ -327182,7 +340717,6 @@ OMIM:614567 a owl:Class ; PMID:27626380 ; RO:0002525 CHR:9606chr13q21.2 ; RO:0003303 OMIM:609129 ; - oboInOwl:hasDbXref UMLS:C1423519 ; oboInOwl:hasExactSynonym "DIAPH3", "dia2", "diaphanous, drosophila, homolog of, 3", @@ -327190,20 +340724,23 @@ OMIM:614567 a owl:Class ; "drf3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81624 ; - skos:exactMatch HGNC_symbol:DIAPH3 ; + skos:exactMatch UMLS:C1423519, + HGNC:15480, + HGNC_symbol:DIAPH3 ; biolink:category biolink:Gene . OMIM:614568 a owl:Class ; rdfs:label "UNC13C" ; IAO:0000142 PMID:11150314 ; - oboInOwl:hasDbXref UMLS:C1427948 ; oboInOwl:hasExactSynonym "UNC13C", "munc13-3", "unc13 homolog c", "unc13, c. elegans, homolog of, c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440279 ; - skos:exactMatch HGNC_symbol:UNC13C ; + skos:exactMatch UMLS:C1427948, + HGNC:23149, + HGNC_symbol:UNC13C ; biolink:category biolink:Gene . OMIM:614569 a owl:Class ; @@ -327224,21 +340761,22 @@ OMIM:614569 a owl:Class ; PMID:733398, PMID:8408836, PMID:869989 ; - oboInOwl:hasDbXref UMLS:C0024454 ; oboInOwl:hasExactSynonym "maffucci syndrome", "multiple enchondromatosis, maffucci iia" ; + skos:exactMatch UMLS:C0024454 ; biolink:category biolink:Disease . OMIM:614570 a owl:Class ; rdfs:label "KIF18B" ; IAO:0000142 PMID:20600703, PMID:21820309 ; - oboInOwl:hasDbXref UMLS:C2239564 ; oboInOwl:hasExactSynonym "KIF18B", "kinesin family member 18b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146909 ; - skos:exactMatch HGNC_symbol:KIF18B ; + skos:exactMatch UMLS:C2239564, + HGNC:27102, + HGNC_symbol:KIF18B ; biolink:category biolink:Gene . OMIM:614571 a owl:Class ; @@ -327252,16 +340790,17 @@ OMIM:614571 a owl:Class ; PMID:5816874 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:277170 ; - oboInOwl:hasDbXref UMLS:C2240273, - UMLS:C2745997, - UMLS:C2986382, - UMLS:C3553264 ; oboInOwl:hasExactSynonym "CPLANE1", "chromosome 5 open reading frame 42", "ciliogenesis and planar polarity effector 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65250 ; - skos:exactMatch HGNC_symbol:CPLANE1 ; + skos:exactMatch UMLS:C2240273, + UMLS:C2745997, + UMLS:C2986382, + UMLS:C3553264, + HGNC:25801, + HGNC_symbol:CPLANE1 ; biolink:category biolink:Gene . OMIM:614572 a owl:Class ; @@ -327271,26 +340810,28 @@ OMIM:614572 a owl:Class ; PMID:21085182, PMID:22596162, PMID:2511439 ; - oboInOwl:hasDbXref UMLS:C1823950 ; oboInOwl:hasExactSynonym "ZFP42", "reduced expression gene 1", "zinc finger protein 42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132625 ; - skos:exactMatch HGNC_symbol:ZFP42 ; + skos:exactMatch UMLS:C1823950, + HGNC:30949, + HGNC_symbol:ZFP42 ; biolink:category biolink:Gene . OMIM:614573 a owl:Class ; rdfs:label "GPR158" ; IAO:0000142 PMID:10574461, PMID:16229975 ; - oboInOwl:hasDbXref UMLS:C1428194 ; oboInOwl:hasExactSynonym "GPR158", "g protein-coupled receptor 158", "kiaa1136" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57512 ; - skos:exactMatch HGNC_symbol:GPR158 ; + skos:exactMatch UMLS:C1428194, + HGNC:23689, + HGNC_symbol:GPR158 ; biolink:category biolink:Gene . OMIM:614574 a owl:Class ; @@ -327306,13 +340847,14 @@ OMIM:614574 a owl:Class ; PMID:8133980 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:226750 ; - oboInOwl:hasDbXref UMLS:C1826844 ; oboInOwl:hasExactSynonym "ROGDI", "rogdi atypical leucine zipper", "rogdi, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79641 ; - skos:exactMatch HGNC_symbol:ROGDI ; + skos:exactMatch UMLS:C1826844, + HGNC:29478, + HGNC_symbol:ROGDI ; biolink:category biolink:Gene . OMIM:614576 a owl:Class ; @@ -327320,11 +340862,11 @@ OMIM:614576 a owl:Class ; IAO:0000142 PMID:20605848, PMID:23430903, PMID:26260076 ; - oboInOwl:hasDbXref UMLS:C3553230 ; oboInOwl:hasExactSynonym "CDG2L", "cdg iil", "congenital disorder of glycosylation, iia iil" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C3553230 ; biolink:category biolink:Disease . OMIM:614577 a owl:Class ; @@ -327332,58 +340874,63 @@ OMIM:614577 a owl:Class ; IAO:0000142 PMID:16044242, PMID:17724343, PMID:21385899 ; - oboInOwl:hasDbXref UMLS:C1538572 ; oboInOwl:hasExactSynonym "PAQR3", "progestin and adipoq receptor family, member 3", "raf kinase trapping to golgi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152559 ; - skos:exactMatch HGNC_symbol:PAQR3 ; + skos:exactMatch UMLS:C1538572, + HGNC:30130, + HGNC_symbol:PAQR3 ; biolink:category biolink:Gene . OMIM:614578 a owl:Class ; rdfs:label "PAQR4" ; IAO:0000142 PMID:16044242 ; - oboInOwl:hasDbXref UMLS:C1538573 ; oboInOwl:hasExactSynonym "PAQR4", "progestin and adipoq receptor family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124222 ; - skos:exactMatch HGNC_symbol:PAQR4 ; + skos:exactMatch UMLS:C1538573, + HGNC:26386, + HGNC_symbol:PAQR4 ; biolink:category biolink:Gene . OMIM:614579 a owl:Class ; rdfs:label "PAQR6" ; IAO:0000142 PMID:16044242 ; - oboInOwl:hasDbXref UMLS:C1538574 ; oboInOwl:hasExactSynonym "PAQR6", "progestin and adipoq receptor family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79957 ; - skos:exactMatch HGNC_symbol:PAQR6 ; + skos:exactMatch UMLS:C1538574, + HGNC:30132, + HGNC_symbol:PAQR6 ; biolink:category biolink:Gene . OMIM:614580 a owl:Class ; rdfs:label "PAQR9" ; IAO:0000142 PMID:16044242 ; - oboInOwl:hasDbXref UMLS:C1538575 ; oboInOwl:hasExactSynonym "PAQR9", "progestin and adipoq receptor family, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344838 ; - skos:exactMatch HGNC_symbol:PAQR9 ; + skos:exactMatch UMLS:C1538575, + HGNC:30131, + HGNC_symbol:PAQR9 ; biolink:category biolink:Gene . OMIM:614581 a owl:Class ; rdfs:label "MMD2" ; IAO:0000142 PMID:16044242 ; - oboInOwl:hasDbXref UMLS:C1537927 ; oboInOwl:hasExactSynonym "MMD2", "monocyte-to-macrophage differentiation-associated protein 2", "progestin and adipoq receptor family, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221938 ; - skos:exactMatch HGNC_symbol:MMD2 ; + skos:exactMatch UMLS:C1537927, + HGNC:30133, + HGNC_symbol:MMD2 ; biolink:category biolink:Gene . OMIM:614583 a owl:Class ; @@ -327391,10 +340938,10 @@ OMIM:614583 a owl:Class ; IAO:0000142 PMID:22366783, PMID:25052316, PMID:3351890 ; - oboInOwl:hasDbXref UMLS:C3281235 ; oboInOwl:hasExactSynonym "BRWS2", "baraitser-winter syndrome 2" ; rdfs:subClassOf OMIMPS:243310 ; + skos:exactMatch UMLS:C3281235 ; biolink:category biolink:Disease . OMIM:614584 a owl:Class ; @@ -327406,13 +340953,14 @@ OMIM:614584 a owl:Class ; PMID:30940925 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:618493 ; - oboInOwl:hasDbXref UMLS:C2678549 ; oboInOwl:hasExactSynonym "P4HTM", "proline hydroxylase 4", "prolyl 4-hydroxylase, transmembrane" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54681 ; - skos:exactMatch HGNC_symbol:P4HTM ; + skos:exactMatch UMLS:C2678549, + HGNC:28858, + HGNC_symbol:P4HTM ; biolink:category biolink:Gene . OMIM:614585 a owl:Class ; @@ -327422,14 +340970,15 @@ OMIM:614585 a owl:Class ; PMID:30010796 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:251900 ; - oboInOwl:hasDbXref UMLS:C2239449 ; oboInOwl:hasExactSynonym "FDX2", "fdx1-like protein", "ferredoxin 1-like protein", "ferredoxin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112812 ; - skos:exactMatch HGNC_symbol:FDX2 ; + skos:exactMatch UMLS:C2239449, + HGNC:30546, + HGNC_symbol:FDX2 ; biolink:category biolink:Gene . OMIM:614586 a owl:Class ; @@ -327437,7 +340986,6 @@ OMIM:614586 a owl:Class ; IAO:0000142 PMID:11214970, PMID:21820437, PMID:22081607 ; - oboInOwl:hasDbXref UMLS:C1425537 ; oboInOwl:hasExactSynonym "ZDHHC5", "dhhc5", "kiaa1748", @@ -327445,7 +340993,9 @@ OMIM:614586 a owl:Class ; "zinc finger protein 375" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25921 ; - skos:exactMatch HGNC_symbol:ZDHHC5 ; + skos:exactMatch UMLS:C1425537, + HGNC:18472, + HGNC_symbol:ZDHHC5 ; biolink:category biolink:Gene . OMIM:614587 a owl:Class ; @@ -327453,14 +341003,15 @@ OMIM:614587 a owl:Class ; IAO:0000142 PMID:19109178, PMID:23070364, PMID:27302742 ; - oboInOwl:hasDbXref UMLS:C1824730 ; oboInOwl:hasExactSynonym "CHAC1", "cation transport regulator-like protein 1", "chac glutathione-specific gamma-glutamylcyclotransferase 1", "chac, e. coli, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79094 ; - skos:exactMatch HGNC_symbol:CHAC1 ; + skos:exactMatch UMLS:C1824730, + HGNC:28680, + HGNC_symbol:CHAC1 ; biolink:category biolink:Gene . OMIM:614589 a owl:Class ; @@ -327470,13 +341021,14 @@ OMIM:614589 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr5q15 ; RO:0003303 OMIM:222470 ; - oboInOwl:hasDbXref UMLS:C2681086 ; oboInOwl:hasExactSynonym "TTC37", "kiaa0372", "tetratricopeptide repeat domain-containing protein 37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9652 ; - skos:exactMatch HGNC_symbol:TTC37 ; + skos:exactMatch UMLS:C2681086, + HGNC:23639, + HGNC_symbol:TTC37 ; biolink:category biolink:Gene . OMIM:614591 a owl:Class ; @@ -327490,22 +341042,23 @@ OMIM:614591 a owl:Class ; PMID:7655461 ; RO:0002525 CHR:9606chr19q13.31-q13.32 ; RO:0003303 OMIM:618410 ; - oboInOwl:hasDbXref UMLS:C1824693 ; oboInOwl:hasExactSynonym "CEACAM16", "carcinoembryonic antigen-related cell adhesion molecule 16", "cea cell adhesion molecule 16", "cea-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388551 ; - skos:exactMatch HGNC_symbol:CEACAM16 ; + skos:exactMatch UMLS:C1824693, + HGNC:31948, + HGNC_symbol:CEACAM16 ; biolink:category biolink:Gene . OMIM:614592 a owl:Class ; rdfs:label "bent bone dysplasia syndrome" ; IAO:0000142 PMID:22387015 ; - oboInOwl:hasDbXref UMLS:C3281247 ; oboInOwl:hasExactSynonym "BBDS", "bent bone dysplasia syndrome" ; + skos:exactMatch UMLS:C3281247 ; biolink:category biolink:Disease . OMIM:614593 a owl:Class ; @@ -327513,7 +341066,6 @@ OMIM:614593 a owl:Class ; IAO:0000142 PMID:15932519, PMID:22442484, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1825660 ; oboInOwl:hasExactSynonym "MARF1", "kiaa0430", "limkain b1", @@ -327521,7 +341073,9 @@ OMIM:614593 a owl:Class ; "meiosis regulator and mrna stability factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9665 ; - skos:exactMatch HGNC_symbol:MARF1 ; + skos:exactMatch UMLS:C1825660, + HGNC:29562, + HGNC_symbol:MARF1 ; biolink:category biolink:Gene . OMIM:614596 a owl:Class ; @@ -327530,13 +341084,14 @@ OMIM:614596 a owl:Class ; PMID:19342891, PMID:21258340, PMID:22422859 ; - oboInOwl:hasDbXref UMLS:C1537866 ; oboInOwl:hasExactSynonym "MIR302A", "micro RNA 302a", "mirna302a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407028 ; - skos:exactMatch HGNC_symbol:MIR302A ; + skos:exactMatch UMLS:C1537866, + HGNC:31623, + HGNC_symbol:MIR302A ; biolink:category biolink:Gene . OMIM:614597 a owl:Class ; @@ -327544,63 +341099,68 @@ OMIM:614597 a owl:Class ; IAO:0000142 PMID:19342891, PMID:21878650, PMID:22422859 ; - oboInOwl:hasDbXref UMLS:C1537867 ; oboInOwl:hasExactSynonym "MIR302B", "micro RNA 302b", "mirna302b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442894 ; - skos:exactMatch HGNC_symbol:MIR302B ; + skos:exactMatch UMLS:C1537867, + HGNC:31763, + HGNC_symbol:MIR302B ; biolink:category biolink:Gene . OMIM:614598 a owl:Class ; rdfs:label "MIR302C" ; IAO:0000142 PMID:19342891, PMID:22422859 ; - oboInOwl:hasDbXref UMLS:C1537868 ; oboInOwl:hasExactSynonym "MIR302C", "micro RNA 302c", "mirna302c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442895 ; - skos:exactMatch HGNC_symbol:MIR302C ; + skos:exactMatch UMLS:C1537868, + HGNC:31764, + HGNC_symbol:MIR302C ; biolink:category biolink:Gene . OMIM:614599 a owl:Class ; rdfs:label "MIR302D" ; IAO:0000142 PMID:19342891, PMID:22422859 ; - oboInOwl:hasDbXref UMLS:C1537869 ; oboInOwl:hasExactSynonym "MIR302D", "micro RNA 302d", "mirna302d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442896 ; - skos:exactMatch HGNC_symbol:MIR302D ; + skos:exactMatch UMLS:C1537869, + HGNC:31765, + HGNC_symbol:MIR302D ; biolink:category biolink:Gene . OMIM:614600 a owl:Class ; rdfs:label "MIR367" ; IAO:0000142 PMID:19342891 ; - oboInOwl:hasDbXref UMLS:C1537888 ; oboInOwl:hasExactSynonym "MIR367", "micro RNA 367", "mirna367" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442912 ; - skos:exactMatch HGNC_symbol:MIR367 ; + skos:exactMatch UMLS:C1537888, + HGNC:31781, + HGNC_symbol:MIR367 ; biolink:category biolink:Gene . OMIM:614601 a owl:Class ; rdfs:label "ZNF326" ; IAO:0000142 PMID:22446626 ; - oboInOwl:hasDbXref UMLS:C1422409 ; oboInOwl:hasExactSynonym "ZNF326", "zinc finger protein 326", "zinc finger protein interacting with nuclear messenger ribonucleoproteins and dbc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284695 ; - skos:exactMatch HGNC_symbol:ZNF326 ; + skos:exactMatch UMLS:C1422409, + HGNC:14104, + HGNC_symbol:ZNF326 ; biolink:category biolink:Gene . OMIM:614603 a owl:Class ; @@ -327611,39 +341171,42 @@ OMIM:614603 a owl:Class ; PMID:23176821 ; RO:0002525 CHR:9606chr14q22.1 ; RO:0003303 OMIM:609340 ; - oboInOwl:hasDbXref UMLS:C1426353 ; oboInOwl:hasExactSynonym "DDHD1", "ddhd domain-containing protein 1", "kiaa1705", "phosphatidic acid-preferring phospholipase a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80821 ; - skos:exactMatch HGNC_symbol:DDHD1 ; + skos:exactMatch UMLS:C1426353, + HGNC:19714, + HGNC_symbol:DDHD1 ; biolink:category biolink:Gene . OMIM:614604 a owl:Class ; rdfs:label "ZDHHC7" ; IAO:0000142 PMID:22031296, PMID:33029007 ; - oboInOwl:hasDbXref UMLS:C1425529 ; oboInOwl:hasExactSynonym "ZDHHC7", "dhhc7", "zinc finger dhhc domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55625 ; - skos:exactMatch HGNC_symbol:ZDHHC7 ; + skos:exactMatch UMLS:C1425529, + HGNC:18459, + HGNC_symbol:ZDHHC7 ; biolink:category biolink:Gene . OMIM:614605 a owl:Class ; rdfs:label "ZDHHC21" ; IAO:0000142 PMID:22031296 ; - oboInOwl:hasDbXref UMLS:C1427108 ; oboInOwl:hasExactSynonym "ZDHHC21", "dhhc21", "zinc finger dhhc domain-containing protein 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340481 ; - skos:exactMatch HGNC_symbol:ZDHHC21 ; + skos:exactMatch UMLS:C1427108, + HGNC:20750, + HGNC_symbol:ZDHHC21 ; biolink:category biolink:Gene . OMIM:614606 a owl:Class ; @@ -327651,13 +341214,14 @@ OMIM:614606 a owl:Class ; IAO:0000142 PMID:11347906, PMID:20601674, PMID:22427331 ; - oboInOwl:hasDbXref UMLS:C1428056 ; oboInOwl:hasExactSynonym "FOCAD", "focadhesin", "kiaa1797" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54914 ; - skos:exactMatch HGNC_symbol:FOCAD ; + skos:exactMatch UMLS:C1428056, + HGNC:23377, + HGNC_symbol:FOCAD ; biolink:category biolink:Gene . OMIM:614608 a owl:Class ; @@ -327667,24 +341231,24 @@ OMIM:614608 a owl:Class ; PMID:23906836, PMID:23929686, PMID:25168959 ; - oboInOwl:hasDbXref UMLS:C3553248 ; oboInOwl:hasExactSynonym "CSS3", "coffin-siris syndrome 3", "mental retardation, autosomal dominant 15" ; rdfs:subClassOf OMIMPS:135900, OMIMPS:156200 ; + skos:exactMatch UMLS:C3553248 ; biolink:category biolink:Disease . OMIM:614609 a owl:Class ; rdfs:label "coffin-siris syndrome 4" ; IAO:0000142 PMID:22426308, PMID:25168959 ; - oboInOwl:hasDbXref UMLS:C3553249 ; oboInOwl:hasExactSynonym "CSS4", "coffin-siris syndrome 4", "mental retardation, autosomal dominant 16" ; rdfs:subClassOf OMIMPS:135900, OMIMPS:156200 ; + skos:exactMatch UMLS:C3553249 ; biolink:category biolink:Disease . OMIM:614610 a owl:Class ; @@ -327696,7 +341260,6 @@ OMIM:614610 a owl:Class ; PMID:25961457 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:616099 ; - oboInOwl:hasDbXref UMLS:C1428829 ; oboInOwl:hasExactSynonym "KANK2", "ankyrin repeat domain-containing protein 25", "kiaa1518", @@ -327704,30 +341267,34 @@ OMIM:614610 a owl:Class ; "src-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25959 ; - skos:exactMatch HGNC_symbol:KANK2 ; + skos:exactMatch UMLS:C1428829, + HGNC:29300, + HGNC_symbol:KANK2 ; biolink:category biolink:Gene . OMIM:614611 a owl:Class ; rdfs:label "KANK3" ; IAO:0000142 PMID:17996375 ; - oboInOwl:hasDbXref UMLS:C1823683 ; oboInOwl:hasExactSynonym "KANK3", "kn motif- and ankyrin repeat domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256949 ; - skos:exactMatch HGNC_symbol:KANK3 ; + skos:exactMatch UMLS:C1823683, + HGNC:24796, + HGNC_symbol:KANK3 ; biolink:category biolink:Gene . OMIM:614612 a owl:Class ; rdfs:label "KANK4" ; IAO:0000142 PMID:17996375, PMID:25961457 ; - oboInOwl:hasDbXref UMLS:C1823674 ; oboInOwl:hasExactSynonym "KANK4", "kn motif- and ankyrin repeat domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163782 ; - skos:exactMatch HGNC_symbol:KANK4 ; + skos:exactMatch UMLS:C1823674, + HGNC:27263, + HGNC_symbol:KANK4 ; biolink:category biolink:Gene . OMIM:614614 a owl:Class ; @@ -327736,10 +341303,10 @@ OMIM:614614 a owl:Class ; PMID:21368133, PMID:25589040, PMID:7655461 ; - oboInOwl:hasDbXref UMLS:C3281297 ; oboInOwl:hasExactSynonym "DFNA4B", "deafness, autosomal dominant 4b" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C3281297 ; biolink:category biolink:Disease . OMIM:614615 a owl:Class ; @@ -327748,29 +341315,29 @@ OMIM:614615 a owl:Class ; PMID:25877302, PMID:26092869, PMID:5816874 ; - oboInOwl:hasDbXref UMLS:C3553264 ; oboInOwl:hasExactSynonym "JBTS17", "joubert syndrome 17" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C3553264 ; biolink:category biolink:Disease . OMIM:614616 a owl:Class ; rdfs:label "diarrhea 6" ; IAO:0000142 PMID:22436048 ; - oboInOwl:hasDbXref UMLS:C3553270 ; oboInOwl:hasExactSynonym "DIAR6", "diarrhea 6" ; rdfs:subClassOf OMIMPS:214700 ; + skos:exactMatch UMLS:C3553270 ; biolink:category biolink:Disease . OMIM:614617 a owl:Class ; rdfs:label "deafness, autosomal recessive 86" ; IAO:0000142 PMID:22211675, PMID:24387994 ; - oboInOwl:hasDbXref UMLS:C2829265 ; oboInOwl:hasExactSynonym "DFNB86", "deafness, autosomal recessive 86" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C2829265 ; biolink:category biolink:Disease . OMIM:614620 a owl:Class ; @@ -327787,78 +341354,84 @@ OMIM:614620 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:266920 ; - oboInOwl:hasDbXref UMLS:C1825574 ; oboInOwl:hasExactSynonym "IFT140", "intraflagellar transport 140", "intraflagellar transport 140, chlamydomonas, homolog of kiaa0590" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9742 ; - skos:exactMatch HGNC_symbol:IFT140 ; + skos:exactMatch UMLS:C1825574, + HGNC:29077, + HGNC_symbol:IFT140 ; biolink:category biolink:Gene . OMIM:614624 a owl:Class ; rdfs:label "MALSU1" ; IAO:0000142 PMID:22238375, PMID:22238376 ; - oboInOwl:hasDbXref UMLS:C3470933 ; oboInOwl:hasExactSynonym "MALSU1", "chromosome 7 open reading frame 30", "mitochondrial assembly of ribosomal large subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115416 ; - skos:exactMatch HGNC_symbol:MALSU1 ; + skos:exactMatch UMLS:C3470933, + HGNC:21721, + HGNC_symbol:MALSU1 ; biolink:category biolink:Gene . OMIM:614625 a owl:Class ; rdfs:label "DANCR" ; IAO:0000142 PMID:22302877, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C3470059 ; oboInOwl:hasExactSynonym "DANCR", "anti-differentiation noncoding RNA", "differentiation-antagonizing noncoding RNA", "kiaa0114" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57291 ; - skos:exactMatch HGNC_symbol:DANCR ; + skos:exactMatch UMLS:C3470059, + HGNC:28964, + HGNC_symbol:DANCR ; biolink:category biolink:Gene . OMIM:614626 a owl:Class ; rdfs:label "SNORA26" ; IAO:0000142 PMID:11387227, PMID:22302877 ; - oboInOwl:hasDbXref UMLS:C1822838 ; oboInOwl:hasExactSynonym "SNORA26", "mbi-6, mouse, homolog of", "small nucleolar rna, h/aca box, 26", "snorna, hbi-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677810 ; - skos:exactMatch HGNC_symbol:SNORA26 ; + skos:exactMatch UMLS:C1822838, + HGNC:32616, + HGNC_symbol:SNORA26 ; biolink:category biolink:Gene . OMIM:614627 a owl:Class ; rdfs:label "MIR4449" ; IAO:0000142 PMID:16381832, PMID:22302877 ; - oboInOwl:hasDbXref UMLS:C3148044 ; oboInOwl:hasExactSynonym "MIR4449", "micro RNA 4449", "mirna4449" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100616436 ; - skos:exactMatch HGNC_symbol:MIR4449 ; + skos:exactMatch UMLS:C3148044, + HGNC:41864, + HGNC_symbol:MIR4449 ; biolink:category biolink:Gene . OMIM:614630 a owl:Class ; rdfs:label "ADGB" ; IAO:0000142 PMID:22115833 ; - oboInOwl:hasDbXref UMLS:C3471494 ; oboInOwl:hasExactSynonym "ADGB", "androglobin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79747 ; - skos:exactMatch HGNC_symbol:ADGB ; + skos:exactMatch UMLS:C3471494, + HGNC:21212, + HGNC_symbol:ADGB ; biolink:category biolink:Gene . OMIM:614631 a owl:Class ; @@ -327873,15 +341446,16 @@ OMIM:614631 a owl:Class ; PMID:9492098 ; RO:0002525 CHR:9606chr7p21.2 ; RO:0003303 OMIM:616052 ; - oboInOwl:hasDbXref UMLS:C2829592, - UMLS:C3553330, - UMLS:C4015095 ; oboInOwl:hasExactSynonym "CRPPA", "cdp-l-ribitol pyrophosphorylase a", "isoprenoid synthase domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729920 ; - skos:exactMatch HGNC_symbol:CRPPA ; + skos:exactMatch UMLS:C2829592, + UMLS:C3553330, + UMLS:C4015095, + HGNC:37276, + HGNC_symbol:CRPPA ; biolink:category biolink:Gene . OMIM:614632 a owl:Class ; @@ -327897,13 +341471,14 @@ OMIM:614632 a owl:Class ; PMID:7513056 ; RO:0002525 CHR:9606chr4p16.3 ; RO:0003303 OMIM:614640 ; - oboInOwl:hasDbXref UMLS:C3470230 ; oboInOwl:hasExactSynonym "UVSSA", "kiaa1530", "uv-stimulated scaffold protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57654 ; - skos:exactMatch HGNC_symbol:UVSSA ; + skos:exactMatch UMLS:C3470230, + HGNC:29304, + HGNC_symbol:UVSSA ; biolink:category biolink:Gene . OMIM:614633 a owl:Class ; @@ -327915,7 +341490,6 @@ OMIM:614633 a owl:Class ; PMID:1955109, PMID:20615984, PMID:8199405 ; - oboInOwl:hasDbXref UMLS:C1425679 ; oboInOwl:hasExactSynonym "VPS54", "slp8", "vacuolar protein sorting 54, s. cerevisiae, homolog of", @@ -327924,32 +341498,36 @@ OMIM:614633 a owl:Class ; "wobbler, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51542 ; - skos:exactMatch HGNC_symbol:VPS54 ; + skos:exactMatch UMLS:C1425679, + HGNC:18652, + HGNC_symbol:VPS54 ; biolink:category biolink:Gene . OMIM:614634 a owl:Class ; rdfs:label "CEP126" ; IAO:0000142 PMID:10718198, PMID:22264561 ; - oboInOwl:hasDbXref UMLS:C1825687 ; oboInOwl:hasExactSynonym "CEP126", "centrosomal protein 126", "kiaa1377" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57562 ; - skos:exactMatch HGNC_symbol:CEP126 ; + skos:exactMatch UMLS:C1825687, + HGNC:29264, + HGNC_symbol:CEP126 ; biolink:category biolink:Gene . OMIM:614635 a owl:Class ; rdfs:label "LINC00538" ; IAO:0000142 PMID:22258142 ; - oboInOwl:hasDbXref UMLS:C3470843 ; oboInOwl:hasExactSynonym "LINC00538", "long intergenic noncoding RNA 538", "yiya" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100861504 ; - skos:exactMatch HGNC_symbol:LINC00538 ; + skos:exactMatch UMLS:C3470843, + HGNC:43655, + HGNC_symbol:LINC00538 ; biolink:category biolink:Gene . OMIM:614636 a owl:Class ; @@ -327957,60 +341535,65 @@ OMIM:614636 a owl:Class ; IAO:0000142 PMID:22196185 ; RO:0002525 CHR:9606chr12q24.11 ; RO:0003303 OMIM:619482 ; - oboInOwl:hasDbXref UMLS:C1422251 ; oboInOwl:hasExactSynonym "MYO1H", "myosin 1h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283446 ; - skos:exactMatch HGNC_symbol:MYO1H ; + skos:exactMatch UMLS:C1422251, + HGNC:13879, + HGNC_symbol:MYO1H ; biolink:category biolink:Gene . OMIM:614637 a owl:Class ; rdfs:label "DESI1" ; IAO:0000142 PMID:22370726 ; - oboInOwl:hasDbXref UMLS:C3470073 ; oboInOwl:hasExactSynonym "DESI1", "desumoylating isopeptidase 1", "pppde peptidase domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27351 ; - skos:exactMatch HGNC_symbol:DESI1 ; + skos:exactMatch UMLS:C3470073, + HGNC:24577, + HGNC_symbol:DESI1 ; biolink:category biolink:Gene . OMIM:614638 a owl:Class ; rdfs:label "DESI2" ; IAO:0000142 PMID:22370726 ; - oboInOwl:hasDbXref UMLS:C3470072 ; oboInOwl:hasExactSynonym "DESI2", "desumoylating isopeptidase 2", "pppde peptidase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51029 ; - skos:exactMatch HGNC_symbol:DESI2 ; + skos:exactMatch UMLS:C3470072, + HGNC:24264, + HGNC_symbol:DESI2 ; biolink:category biolink:Gene . OMIM:614639 a owl:Class ; rdfs:label "ZBTB46" ; IAO:0000142 PMID:22370726 ; - oboInOwl:hasDbXref UMLS:C1823912 ; oboInOwl:hasExactSynonym "ZBTB46", "btb-zinc finger protein expressed 1n effector lymphocytes", "zinc finger- and btb domain-containing protein 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140685 ; - skos:exactMatch HGNC_symbol:ZBTB46 ; + skos:exactMatch UMLS:C1823912, + HGNC:16094, + HGNC_symbol:ZBTB46 ; biolink:category biolink:Gene . OMIM:614641 a owl:Class ; rdfs:label "LAMP5" ; IAO:0000142 PMID:21642595 ; - oboInOwl:hasDbXref UMLS:C3470555 ; oboInOwl:hasExactSynonym "LAMP5", "brain- and dendritic cell-associated lamp", "lysosome-associated membrane protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24141 ; - skos:exactMatch HGNC_symbol:LAMP5 ; + skos:exactMatch UMLS:C3470555, + HGNC:16097, + HGNC_symbol:LAMP5 ; biolink:category biolink:Gene . OMIM:614642 a owl:Class ; @@ -328018,13 +341601,14 @@ OMIM:614642 a owl:Class ; IAO:0000142 PMID:10718198, PMID:16964419, PMID:22153075 ; - oboInOwl:hasDbXref UMLS:C1426053 ; oboInOwl:hasExactSynonym "STARD9", "kiaa1300", "start domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57519 ; - skos:exactMatch HGNC_symbol:STARD9 ; + skos:exactMatch UMLS:C1426053, + HGNC:19162, + HGNC_symbol:STARD9 ; biolink:category biolink:Gene . OMIM:614643 a owl:Class ; @@ -328035,12 +341619,12 @@ OMIM:614643 a owl:Class ; PMID:23217329, PMID:7604843, PMID:9492098 ; - oboInOwl:hasDbXref UMLS:C3553330, - ORPHA:899 ; oboInOwl:hasExactSynonym "MDDGA7", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 7", "walker-warburg syndrome or muscle-eye-brain disease, ispd-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3553330, + ORPHA:899 ; biolink:category biolink:Disease . OMIM:614647 a owl:Class ; @@ -328052,7 +341636,6 @@ OMIM:614647 a owl:Class ; PMID:28117207 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:614650 ; - oboInOwl:hasDbXref UMLS:C1426796 ; oboInOwl:hasExactSynonym "COQ6", "cgi10", "coenzyme Q10 monooxygenase 6", @@ -328060,18 +341643,21 @@ OMIM:614647 a owl:Class ; "coq6, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51004 ; - skos:exactMatch HGNC_symbol:COQ6 ; + skos:exactMatch UMLS:C1426796, + HGNC:20233, + HGNC_symbol:COQ6 ; biolink:category biolink:Gene . OMIM:614648 a owl:Class ; rdfs:label "RALYL" ; IAO:0000142 PMID:12688537 ; - oboInOwl:hasDbXref UMLS:C2239869 ; oboInOwl:hasExactSynonym "RALYL", "raly-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:138046 ; - skos:exactMatch HGNC_symbol:RALYL ; + skos:exactMatch UMLS:C2239869, + HGNC:27036, + HGNC_symbol:RALYL ; biolink:category biolink:Gene . OMIM:614649 a owl:Class ; @@ -328083,36 +341669,38 @@ OMIM:614649 a owl:Class ; PMID:26433933 ; RO:0002525 CHR:9606chr8p11.21 ; RO:0003303 OMIM:619686 ; - oboInOwl:hasDbXref UMLS:C1538867 ; oboInOwl:hasExactSynonym "RNF170", "ring finger protein 170" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81790 ; - skos:exactMatch HGNC_symbol:RNF170 ; + skos:exactMatch UMLS:C1538867, + HGNC:25358, + HGNC_symbol:RNF170 ; biolink:category biolink:Gene . OMIM:614653 a owl:Class ; rdfs:label "neuropathy, hereditary sensory and autonomic, iia 6" ; IAO:0000142 PMID:22522446 ; - oboInOwl:hasDbXref UMLS:C3539003 ; oboInOwl:hasExactSynonym "HSAN6", "hsan 6", "neuropathy, hereditary sensory and autonomic, iia 6" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C3539003 ; biolink:category biolink:Disease . OMIM:614656 a owl:Class ; rdfs:label "PALD1" ; IAO:0000142 PMID:10574462, PMID:22354871 ; - oboInOwl:hasDbXref UMLS:C1537467 ; oboInOwl:hasExactSynonym "PALD1", "kiaa1274", "paladin, mouse, homolog of", "paladin1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27143 ; - skos:exactMatch HGNC_symbol:PALD1 ; + skos:exactMatch UMLS:C1537467, + HGNC:23530, + HGNC_symbol:PALD1 ; biolink:category biolink:Gene . OMIM:614657 a owl:Class ; @@ -328120,13 +341708,14 @@ OMIM:614657 a owl:Class ; IAO:0000142 PMID:11733531, PMID:12406577, PMID:22362771 ; - oboInOwl:hasDbXref UMLS:C1425095 ; oboInOwl:hasExactSynonym "AMOTL1", "angiomotin-like 1", "junction-enriched and -associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154810 ; - skos:exactMatch HGNC_symbol:AMOTL1 ; + skos:exactMatch UMLS:C1425095, + HGNC:17811, + HGNC_symbol:AMOTL1 ; biolink:category biolink:Gene . OMIM:614658 a owl:Class ; @@ -328135,26 +341724,28 @@ OMIM:614658 a owl:Class ; PMID:12406577, PMID:21937427, PMID:22362771 ; - oboInOwl:hasDbXref UMLS:C1425096 ; oboInOwl:hasExactSynonym "AMOTL2", "angiomotin-like 2", "kiaa0989" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51421 ; - skos:exactMatch HGNC_symbol:AMOTL2 ; + skos:exactMatch UMLS:C1425096, + HGNC:17812, + HGNC_symbol:AMOTL2 ; biolink:category biolink:Gene . OMIM:614659 a owl:Class ; rdfs:label "AMER2" ; IAO:0000142 PMID:17925383, PMID:22128170 ; - oboInOwl:hasDbXref UMLS:C1825262 ; oboInOwl:hasExactSynonym "AMER2", "apc membrane recruitment protein 2", "family with sequence similarity 123, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219287 ; - skos:exactMatch HGNC_symbol:AMER2 ; + skos:exactMatch UMLS:C1825262, + HGNC:26360, + HGNC_symbol:AMER2 ; biolink:category biolink:Gene . OMIM:614660 a owl:Class ; @@ -328162,7 +341753,6 @@ OMIM:614660 a owl:Class ; IAO:0000142 PMID:17936923, PMID:20852261, PMID:22090346 ; - oboInOwl:hasDbXref UMLS:C2239799 ; oboInOwl:hasExactSynonym "PATL1", "pat1 homolog 1, processing body mrna decay factor", "pat1-like 1", @@ -328170,7 +341760,9 @@ OMIM:614660 a owl:Class ; "protein associated with topoisomerase ii, s. cerevisiae, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219988 ; - skos:exactMatch HGNC_symbol:PATL1 ; + skos:exactMatch UMLS:C2239799, + HGNC:26721, + HGNC_symbol:PATL1 ; biolink:category biolink:Gene . OMIM:614661 a owl:Class ; @@ -328180,7 +341772,6 @@ OMIM:614661 a owl:Class ; PMID:28965849 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:617743 ; - oboInOwl:hasDbXref UMLS:C2239800 ; oboInOwl:hasExactSynonym "PATL2", "pat1 homolog 2", "pat1-like 2", @@ -328188,7 +341779,9 @@ OMIM:614661 a owl:Class ; "protein associated with topoisomerase ii, s. cerevisiae, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197135 ; - skos:exactMatch HGNC_symbol:PATL2 ; + skos:exactMatch UMLS:C2239800, + HGNC:33630, + HGNC_symbol:PATL2 ; biolink:category biolink:Gene . OMIM:614663 a owl:Class ; @@ -328196,7 +341789,6 @@ OMIM:614663 a owl:Class ; IAO:0000142 PMID:10500250, PMID:7533788, PMID:9376072 ; - oboInOwl:hasDbXref UMLS:C1423833 ; oboInOwl:hasExactSynonym "RALY", "heterogeneous nuclear ribonucleoprotein associated with lethal yellow, mouse, homolog of", "p542", @@ -328205,7 +341797,9 @@ OMIM:614663 a owl:Class ; "rna-binding protein raly, autoantigenic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22913 ; - skos:exactMatch HGNC_symbol:RALY ; + skos:exactMatch UMLS:C1423833, + HGNC:15921, + HGNC_symbol:RALY ; biolink:category biolink:Gene . OMIM:614664 a owl:Class ; @@ -328213,13 +341807,14 @@ OMIM:614664 a owl:Class ; IAO:0000142 PMID:12645956, PMID:19155473, PMID:22210914 ; - oboInOwl:hasDbXref UMLS:C1540051 ; oboInOwl:hasExactSynonym "TREML4", "trem-like transcript 4", "triggering receptor expressed on myeloid cells-like protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285852 ; - skos:exactMatch HGNC_symbol:TREML4 ; + skos:exactMatch UMLS:C1540051, + HGNC:30807, + HGNC_symbol:TREML4 ; biolink:category biolink:Gene . OMIM:614666 a owl:Class ; @@ -328228,13 +341823,14 @@ OMIM:614666 a owl:Class ; PMID:22818856 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:614807 ; - oboInOwl:hasDbXref UMLS:C1824603 ; oboInOwl:hasExactSynonym "CCDC78", "chromosome 16 open reading frame 25", "coiled-coil domain-containing protein 78" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124093 ; - skos:exactMatch HGNC_symbol:CCDC78 ; + skos:exactMatch UMLS:C1824603, + HGNC:14153, + HGNC_symbol:CCDC78 ; biolink:category biolink:Gene . OMIM:614667 a owl:Class ; @@ -328246,21 +341842,22 @@ OMIM:614667 a owl:Class ; PMID:29331171 ; RO:0002525 CHR:9606chr6q13 ; RO:0003303 OMIM:614702 ; - oboInOwl:hasDbXref UMLS:C1426126 ; oboInOwl:hasExactSynonym "MTO1", "mitochondrial translation optimization 1, s. cerevisiae, homolog of", "mitochondrial trna translation optimization 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25821 ; - skos:exactMatch HGNC_symbol:MTO1 ; + skos:exactMatch UMLS:C1426126, + HGNC:19261, + HGNC_symbol:MTO1 ; biolink:category biolink:Gene . OMIM:614670 a owl:Class ; rdfs:label "peripartum cardiomyopathy, susceptibility to" ; IAO:0000142 PMID:22596155 ; - oboInOwl:hasDbXref UMLS:C3553406 ; oboInOwl:hasExactSynonym "peripartum cardiomyopathy, susceptibility to", "ppcm, susceptibility to" ; + skos:exactMatch UMLS:C3553406 ; biolink:category biolink:Disease . OMIM:614671 a owl:Class ; @@ -328284,11 +341881,11 @@ OMIM:614671 a owl:Class ; PMID:22596160, PMID:22970919 ; RO:0002525 CHR:9606chr16p11.2 ; - oboInOwl:hasDbXref UMLS:C3553407, - UMLS:C3553408, - ORPHA:370079 ; oboInOwl:hasExactSynonym "autism, susceptibility to, 14b", "chromosome 16p11.2 duplication syndrome" ; + skos:exactMatch UMLS:C3553407, + UMLS:C3553408, + ORPHA:370079 ; biolink:category biolink:Disease . OMIM:614677 a owl:Class ; @@ -328296,36 +341893,39 @@ OMIM:614677 a owl:Class ; IAO:0000142 PMID:22581229 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:614679 ; - oboInOwl:hasDbXref UMLS:C1824631 ; oboInOwl:hasExactSynonym "CCDC103", "coiled-coil domain-containing protein 103", "pr46b, chlamydomonas, homolog of", "schmalhans, zebrafish, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388389 ; - skos:exactMatch HGNC_symbol:CCDC103 ; + skos:exactMatch UMLS:C1824631, + HGNC:32700, + HGNC_symbol:CCDC103 ; biolink:category biolink:Gene . OMIM:614681 a owl:Class ; rdfs:label "AGPHD1" ; IAO:0000142 PMID:22241472 ; - oboInOwl:hasDbXref UMLS:C2829607 ; oboInOwl:hasExactSynonym "AGPHD1", "aminoglycoside phosphotransferase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123688 ; - skos:exactMatch HGNC_symbol:HYKK ; + skos:exactMatch UMLS:C2829607, + HGNC:34403, + HGNC_symbol:HYKK ; biolink:category biolink:Gene . OMIM:614682 a owl:Class ; rdfs:label "AGXT2L1" ; IAO:0000142 PMID:22241472 ; - oboInOwl:hasDbXref UMLS:C1422624 ; oboInOwl:hasExactSynonym "AGXT2L1", "alanine-glyoxylate aminotransferase 2-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64850 ; - skos:exactMatch HGNC_symbol:ETNPPL ; + skos:exactMatch UMLS:C1422624, + HGNC:14404, + HGNC_symbol:ETNPPL ; biolink:category biolink:Gene . OMIM:614683 a owl:Class ; @@ -328334,31 +341934,33 @@ OMIM:614683 a owl:Class ; PMID:23242558 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:615011 ; - oboInOwl:hasDbXref UMLS:C1826614 ; oboInOwl:hasExactSynonym "5-phosphohydroxy-l-lysine phospho-lyase", "PHYKPL", "alanine-glyoxylate aminotransferase 2-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85007 ; - skos:exactMatch HGNC_symbol:PHYKPL ; + skos:exactMatch UMLS:C1826614, + HGNC:28249, + HGNC_symbol:PHYKPL ; biolink:category biolink:Gene . OMIM:614684 a owl:Class ; rdfs:label "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes" ; IAO:0000142 PMID:19938075 ; - oboInOwl:hasDbXref UMLS:C3553465 ; oboInOwl:hasExactSynonym "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes" ; + skos:exactMatch UMLS:C3553465 ; biolink:category biolink:Disease . OMIM:614685 a owl:Class ; rdfs:label "ZNF597" ; IAO:0000142 PMID:21593219 ; - oboInOwl:hasDbXref UMLS:C1428608 ; oboInOwl:hasExactSynonym "ZNF597", "zinc finger protein 597" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146434 ; - skos:exactMatch HGNC_symbol:ZNF597 ; + skos:exactMatch UMLS:C1428608, + HGNC:26573, + HGNC_symbol:ZNF597 ; biolink:category biolink:Gene . OMIM:614686 a owl:Class ; @@ -328366,89 +341968,94 @@ OMIM:614686 a owl:Class ; IAO:0000142 PMID:10534398, PMID:21421564, PMID:21593219 ; - oboInOwl:hasDbXref UMLS:C1539455, - UMLS:C4225401 ; oboInOwl:hasExactSynonym "FAM50B", "family with sequence similarity 50, member B", "family with sequence similarity 50, member b, antisense transcript", "xap5-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26240 ; - skos:exactMatch HGNC_symbol:FAM50B ; + skos:exactMatch UMLS:C1539455, + UMLS:C4225401, + HGNC:18789, + HGNC_symbol:FAM50B ; biolink:category biolink:Gene . OMIM:614687 a owl:Class ; rdfs:label "alar cleft, isolated" ; IAO:0000142 PMID:19921637 ; - oboInOwl:hasDbXref UMLS:C3553476 ; - oboInOwl:hasExactSynonym "alar cleft, isolated" . + oboInOwl:hasExactSynonym "alar cleft, isolated" ; + skos:exactMatch UMLS:C3553476 . OMIM:614688 a owl:Class ; rdfs:label "pontine tegmental cap dysplasia" ; IAO:0000142 PMID:17690130, PMID:18842761, PMID:21651769 ; - oboInOwl:hasDbXref UMLS:C3541340 ; oboInOwl:hasExactSynonym "PTCD", - "pontine tegmental cap dysplasia" . + "pontine tegmental cap dysplasia" ; + skos:exactMatch UMLS:C3541340 . OMIM:614690 a owl:Class ; rdfs:label "C4ORF48" ; IAO:0000142 PMID:21287218 ; - oboInOwl:hasDbXref UMLS:C2681226 ; oboInOwl:hasExactSynonym "C4ORF48", "chromosome 4 open reading frame 48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401115 ; - skos:exactMatch HGNC_symbol:C4orf48 ; + skos:exactMatch UMLS:C2681226, + HGNC:34437, + HGNC_symbol:C4orf48 ; biolink:category biolink:Gene . OMIM:614691 a owl:Class ; rdfs:label "cataract 38" ; IAO:0000142 PMID:22415731 ; - oboInOwl:hasDbXref UMLS:C3553494 ; oboInOwl:hasExactSynonym "CTRCT38", "cataract 38", "cataract, autosomal recessive congenital 5" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3553494 ; biolink:category biolink:Disease . OMIM:614693 a owl:Class ; rdfs:label "ATMIN" ; IAO:0000142 PMID:22167198, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C2239910 ; oboInOwl:hasExactSynonym "ATMIN", "atm interactor", "atm substrate chk2-interacting zinc finger protein", "kiaa0431" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23300 ; - skos:exactMatch HGNC_symbol:ATMIN ; + skos:exactMatch UMLS:C2239910, + HGNC:29034, + HGNC_symbol:ATMIN ; biolink:category biolink:Gene . OMIM:614694 a owl:Class ; rdfs:label "RPRD1B" ; IAO:0000142 PMID:22231121, PMID:22264791 ; - oboInOwl:hasDbXref UMLS:C1424086 ; oboInOwl:hasExactSynonym "RPRD1B", "cell cycle-related and expression-elevated protein 1n tumor", "regulation of nuclear pre-mrna domain-containing protein 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58490 ; - skos:exactMatch HGNC_symbol:RPRD1B ; + skos:exactMatch UMLS:C1424086, + HGNC:16209, + HGNC_symbol:RPRD1B ; biolink:category biolink:Gene . OMIM:614695 a owl:Class ; rdfs:label "RPRD2" ; IAO:0000142 PMID:22231121 ; - oboInOwl:hasDbXref UMLS:C1825661 ; oboInOwl:hasExactSynonym "RPRD2", "regulation of nuclear pre-mrna domain-containing 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23248 ; - skos:exactMatch HGNC_symbol:RPRD2 ; + skos:exactMatch UMLS:C1825661, + HGNC:29039, + HGNC_symbol:RPRD2 ; biolink:category biolink:Gene . OMIM:614696 a owl:Class ; @@ -328462,13 +342069,14 @@ OMIM:614697 a owl:Class ; PMID:22495306, PMID:22495309, PMID:22495311 ; - oboInOwl:hasDbXref UMLS:C1537433 ; oboInOwl:hasExactSynonym "KATNAL2", "katanin, p60 subunit, a-like protein 2", "katna-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83473 ; - skos:exactMatch HGNC_symbol:KATNAL2 ; + skos:exactMatch UMLS:C1537433, + HGNC:25387, + HGNC_symbol:KATNAL2 ; biolink:category biolink:Gene . OMIM:614698 a owl:Class ; @@ -328479,8 +342087,6 @@ OMIM:614698 a owl:Class ; PMID:24403053 ; RO:0002525 CHR:9606chr1q44 ; RO:0003303 OMIM:619054 ; - oboInOwl:hasDbXref UMLS:C3469918, - UMLS:C5436694 ; oboInOwl:hasExactSynonym "COX20", "cox2 chaperone cox20", "cox20, s. cerevisiae, homolog of", @@ -328488,16 +342094,19 @@ OMIM:614698 a owl:Class ; "family with sequence similarity 36, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116228 ; - skos:exactMatch HGNC_symbol:COX20 ; + skos:exactMatch UMLS:C3469918, + UMLS:C5436694, + HGNC:26970, + HGNC_symbol:COX20 ; biolink:category biolink:Gene . OMIM:614699 a owl:Class ; rdfs:label "immunodeficiency, common variable, 7" ; IAO:0000142 PMID:22035880 ; - oboInOwl:hasDbXref UMLS:C3542922 ; oboInOwl:hasExactSynonym "CVID7", "immunodeficiency, common variable, 7" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C3542922 ; biolink:category biolink:Disease . OMIM:614703 a owl:Class ; @@ -328505,12 +342114,13 @@ OMIM:614703 a owl:Class ; IAO:0000142 PMID:22559943, PMID:22559944, PMID:26206078 ; - oboInOwl:hasDbXref UMLS:C3469872 ; oboInOwl:hasExactSynonym "SRGAP2B", "slit-robo rho gtpase-activating protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:647135 ; - skos:exactMatch HGNC_symbol:SRGAP2B ; + skos:exactMatch UMLS:C3469872, + HGNC:35237, + HGNC_symbol:SRGAP2B ; biolink:category biolink:Gene . OMIM:614704 a owl:Class ; @@ -328518,34 +342128,36 @@ OMIM:614704 a owl:Class ; IAO:0000142 PMID:22559943, PMID:22559944, PMID:26206078 ; - oboInOwl:hasDbXref UMLS:C3469873 ; oboInOwl:hasExactSynonym "SRGAP2C", "slit-robo rho gtpase-activating protein 2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653464 ; - skos:exactMatch HGNC_symbol:SRGAP2C ; + skos:exactMatch UMLS:C3469873, + HGNC:30584, + HGNC_symbol:SRGAP2C ; biolink:category biolink:Gene . OMIM:614705 a owl:Class ; rdfs:label "SRGAP2D" ; IAO:0000142 PMID:22559943, PMID:26206078 ; - oboInOwl:hasDbXref UMLS:C3541537 ; oboInOwl:hasExactSynonym "SRGAP2D", "slit-robo rho gtpase-activating protein 2d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100996712 ; - skos:exactMatch HGNC_symbol:SRGAP2D ; + skos:exactMatch UMLS:C3541537, + HGNC:43932, + HGNC_symbol:SRGAP2D ; biolink:category biolink:Gene . OMIM:614706 a owl:Class ; rdfs:label "ceroid lipofuscinosis, neuronal, 11" ; IAO:0000142 PMID:20522652, PMID:22608501 ; - oboInOwl:hasDbXref UMLS:C3539123 ; oboInOwl:hasExactSynonym "CLN11", "ceroid lipofuscinosis, neuronal, 11" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C3539123 ; biolink:category biolink:Disease . OMIM:614708 a owl:Class ; @@ -328556,12 +342168,13 @@ OMIM:614708 a owl:Class ; PMID:33308444 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:619184 ; - oboInOwl:hasDbXref UMLS:C1539734 ; oboInOwl:hasExactSynonym "SCUBE3", "signal peptide-, cub domain-, and egf-like domains-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222663 ; - skos:exactMatch HGNC_symbol:SCUBE3 ; + skos:exactMatch UMLS:C1539734, + HGNC:13655, + HGNC_symbol:SCUBE3 ; biolink:category biolink:Gene . OMIM:614709 a owl:Class ; @@ -328569,12 +342182,13 @@ OMIM:614709 a owl:Class ; IAO:0000142 PMID:19022914, PMID:20826099, PMID:20938407 ; - oboInOwl:hasDbXref UMLS:C1825922 ; oboInOwl:hasExactSynonym "LYRM1", "lyr motif-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57149 ; - skos:exactMatch HGNC_symbol:LYRM1 ; + skos:exactMatch UMLS:C1825922, + HGNC:25074, + HGNC_symbol:LYRM1 ; biolink:category biolink:Gene . OMIM:614710 a owl:Class ; @@ -328582,7 +342196,6 @@ OMIM:614710 a owl:Class ; IAO:0000142 PMID:18676834, PMID:21317926, PMID:26206078 ; - oboInOwl:hasDbXref UMLS:C1825137 ; oboInOwl:hasExactSynonym "FAM72A", "family with sequence similarity 72, member a", "latent membrane protein 1-induced protein", @@ -328590,7 +342203,9 @@ OMIM:614710 a owl:Class ; "ugene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729533 ; - skos:exactMatch HGNC_symbol:FAM72A ; + skos:exactMatch UMLS:C1825137, + HGNC:24044, + HGNC_symbol:FAM72A ; biolink:category biolink:Gene . OMIM:614711 a owl:Class ; @@ -328598,24 +342213,26 @@ OMIM:614711 a owl:Class ; IAO:0000142 PMID:19755123, PMID:21317926, PMID:26206078 ; - oboInOwl:hasDbXref UMLS:C1825138 ; oboInOwl:hasExactSynonym "FAM72B", "family with sequence similarity 72, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653820 ; - skos:exactMatch HGNC_symbol:FAM72B ; + skos:exactMatch UMLS:C1825138, + HGNC:24805, + HGNC_symbol:FAM72B ; biolink:category biolink:Gene . OMIM:614712 a owl:Class ; rdfs:label "FAM72D" ; IAO:0000142 PMID:21317926, PMID:26206078 ; - oboInOwl:hasDbXref UMLS:C2239400 ; oboInOwl:hasExactSynonym "FAM72D", "family with sequence similarity 72, member d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728833 ; - skos:exactMatch HGNC_symbol:FAM72D ; + skos:exactMatch UMLS:C2239400, + HGNC:33593, + HGNC_symbol:FAM72D ; biolink:category biolink:Gene . OMIM:614713 a owl:Class ; @@ -328623,50 +342240,54 @@ OMIM:614713 a owl:Class ; IAO:0000142 PMID:18272789, PMID:19570220, PMID:20956940 ; - oboInOwl:hasDbXref UMLS:C2239870 ; oboInOwl:hasExactSynonym "RASSF10", "ras association domain family, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644943 ; - skos:exactMatch HGNC_symbol:RASSF10 ; + skos:exactMatch UMLS:C2239870, + HGNC:33984, + HGNC_symbol:RASSF10 ; biolink:category biolink:Gene . OMIM:614715 a owl:Class ; rdfs:label "TMIGD2" ; IAO:0000142 PMID:22419821, PMID:23784006 ; - oboInOwl:hasDbXref UMLS:C1823450 ; oboInOwl:hasExactSynonym "TMIGD2", "cd28 homolog", "immunoglobulin and proline-rich receptor 1", "transmembrane and immunoglobulin domains-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126259 ; - skos:exactMatch HGNC_symbol:TMIGD2 ; + skos:exactMatch UMLS:C1823450, + HGNC:28324, + HGNC_symbol:TMIGD2 ; biolink:category biolink:Gene . OMIM:614716 a owl:Class ; rdfs:label "CARMIL3" ; IAO:0000142 PMID:21102520 ; - oboInOwl:hasDbXref UMLS:C1426826 ; oboInOwl:hasExactSynonym "CARMIL3", "capping protein regulator and myosin 1 linker 3", "leucine-rich repeat-containing protein 16b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90668 ; - skos:exactMatch HGNC_symbol:CARMIL3 ; + skos:exactMatch UMLS:C1426826, + HGNC:20272, + HGNC_symbol:CARMIL3 ; biolink:category biolink:Gene . OMIM:614717 a owl:Class ; rdfs:label "ANAPC15" ; IAO:0000142 PMID:21926987 ; - oboInOwl:hasDbXref UMLS:C1824317 ; oboInOwl:hasExactSynonym "ANAPC15", "anaphase-promoting complex, subunit 15", "apc15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25906 ; - skos:exactMatch HGNC_symbol:ANAPC15 ; + skos:exactMatch UMLS:C1824317, + HGNC:24531, + HGNC_symbol:ANAPC15 ; biolink:category biolink:Gene . OMIM:614718 a owl:Class ; @@ -328675,14 +342296,15 @@ OMIM:614718 a owl:Class ; PMID:22110139 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:613328 ; - oboInOwl:hasDbXref UMLS:C1539051 ; oboInOwl:hasExactSynonym "KNSTRN", "chromosome 15 open reading frame 23", "kinetochore-localized astrin/spag5-binding protein", "small kinetochore-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90417 ; - skos:exactMatch HGNC_symbol:KNSTRN ; + skos:exactMatch UMLS:C1539051, + HGNC:30767, + HGNC_symbol:KNSTRN ; biolink:category biolink:Gene . OMIM:614719 a owl:Class ; @@ -328690,14 +342312,15 @@ OMIM:614719 a owl:Class ; IAO:0000142 PMID:12810064, PMID:15581609, PMID:20473331 ; - oboInOwl:hasDbXref UMLS:C1427019 ; oboInOwl:hasExactSynonym "KCMF1", "basic fibroblast growth factor-induced gene 1n gastric cancer", "differentially expressed 1n branching tubulogenesis 91", "potassium channel modulatory factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56888 ; - skos:exactMatch HGNC_symbol:KCMF1 ; + skos:exactMatch UMLS:C1427019, + HGNC:20589, + HGNC_symbol:KCMF1 ; biolink:category biolink:Gene . OMIM:614720 a owl:Class ; @@ -328707,14 +342330,15 @@ OMIM:614720 a owl:Class ; PMID:32330417 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:618916 ; - oboInOwl:hasDbXref UMLS:C1540298, - UMLS:C5394501 ; oboInOwl:hasExactSynonym "CDK19", "cyclin-dependent kinase 19", "kiaa1028" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23097 ; - skos:exactMatch HGNC_symbol:CDK19 ; + skos:exactMatch UMLS:C1540298, + UMLS:C5394501, + HGNC:19338, + HGNC_symbol:CDK19 ; biolink:category biolink:Gene . OMIM:614721 a owl:Class ; @@ -328723,19 +342347,19 @@ OMIM:614721 a owl:Class ; PMID:18059362, PMID:20079711, PMID:21170034 ; - oboInOwl:hasDbXref UMLS:C1428843 ; oboInOwl:hasExactSynonym "TSPYL5", "kiaa1750", "tspy-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85453 ; - skos:exactMatch HGNC_symbol:TSPYL5 ; + skos:exactMatch UMLS:C1428843, + HGNC:29367, + HGNC_symbol:TSPYL5 ; biolink:category biolink:Gene . OMIM:614722 a owl:Class ; rdfs:label "MIR3120" ; IAO:0000142 PMID:22393045 ; - oboInOwl:hasDbXref UMLS:C2829719 ; oboInOwl:hasExactSynonym "MIR3120", "micro RNA 3120", "micro RNA 3120-3p", @@ -328743,7 +342367,9 @@ OMIM:614722 a owl:Class ; "mirna3120" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100422882 ; - skos:exactMatch HGNC_symbol:MIR3120 ; + skos:exactMatch UMLS:C2829719, + HGNC:38295, + HGNC_symbol:MIR3120 ; biolink:category biolink:Gene . OMIM:614724 a owl:Class ; @@ -328754,12 +342380,13 @@ OMIM:614724 a owl:Class ; PMID:24613305 ; RO:0002525 CHR:9606chr3q22.2 ; RO:0003303 OMIM:614728 ; - oboInOwl:hasDbXref UMLS:C1824711 ; oboInOwl:hasExactSynonym "CEP63", "centrosomal protein, 63-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80254 ; - skos:exactMatch HGNC_symbol:CEP63 ; + skos:exactMatch UMLS:C1824711, + HGNC:25815, + HGNC_symbol:CEP63 ; biolink:category biolink:Gene . OMIM:614725 a owl:Class ; @@ -328771,12 +342398,13 @@ OMIM:614725 a owl:Class ; PMID:29205472 ; RO:0002525 CHR:9606chr6q25.3 ; RO:0003303 OMIM:614739 ; - oboInOwl:hasDbXref UMLS:C1427283 ; oboInOwl:hasExactSynonym "SERAC1", "serine active site-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84947 ; - skos:exactMatch HGNC_symbol:SERAC1 ; + skos:exactMatch UMLS:C1427283, + HGNC:21061, + HGNC_symbol:SERAC1 ; biolink:category biolink:Gene . OMIM:614726 a owl:Class ; @@ -328785,13 +342413,14 @@ OMIM:614726 a owl:Class ; PMID:3202867 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:614727 ; - oboInOwl:hasDbXref UMLS:C1823430 ; oboInOwl:hasExactSynonym "TMEM165", "ft27", "transmembrane protein 165" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55858 ; - skos:exactMatch HGNC_symbol:TMEM165 ; + skos:exactMatch UMLS:C1823430, + HGNC:30760, + HGNC_symbol:TMEM165 ; biolink:category biolink:Gene . OMIM:614729 a owl:Class ; @@ -328800,14 +342429,15 @@ OMIM:614729 a owl:Class ; PMID:21625211, PMID:25043011, PMID:9341143 ; - oboInOwl:hasDbXref UMLS:C1427739 ; oboInOwl:hasExactSynonym "COPS6", "cop9 signalosome, subunit 6", "csn6", "mov34 family, 34-kd member" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10980 ; - skos:exactMatch HGNC_symbol:COPS6 ; + skos:exactMatch UMLS:C1427739, + HGNC:21749, + HGNC_symbol:COPS6 ; biolink:category biolink:Gene . OMIM:614730 a owl:Class ; @@ -328817,24 +342447,26 @@ OMIM:614730 a owl:Class ; PMID:22683086 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:614749 ; - oboInOwl:hasDbXref UMLS:C1427994 ; oboInOwl:hasExactSynonym "PIGO", "phosphatidylinositol glycan anchor biosynthesis class o protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84720 ; - skos:exactMatch HGNC_symbol:PIGO ; + skos:exactMatch UMLS:C1427994, + HGNC:23215, + HGNC_symbol:PIGO ; biolink:category biolink:Gene . OMIM:614733 a owl:Class ; rdfs:label "MIR193A" ; IAO:0000142 PMID:21743466 ; - oboInOwl:hasDbXref UMLS:C1826007 ; oboInOwl:hasExactSynonym "MIR193A", "micro RNA 193a", "mirna193a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406968 ; - skos:exactMatch HGNC_symbol:MIR193A ; + skos:exactMatch UMLS:C1826007, + HGNC:31563, + HGNC_symbol:MIR193A ; biolink:category biolink:Gene . OMIM:614734 a owl:Class ; @@ -328842,13 +342474,14 @@ OMIM:614734 a owl:Class ; IAO:0000142 PMID:21512034, PMID:21518763, PMID:21743466 ; - oboInOwl:hasDbXref UMLS:C1826008 ; oboInOwl:hasExactSynonym "MIR193B", "micro RNA 193b", "mirna193b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574455 ; - skos:exactMatch HGNC_symbol:MIR193B ; + skos:exactMatch UMLS:C1826008, + HGNC:32087, + HGNC_symbol:MIR193B ; biolink:category biolink:Gene . OMIM:614735 a owl:Class ; @@ -328856,7 +342489,6 @@ OMIM:614735 a owl:Class ; IAO:0000142 PMID:21518763, PMID:21640710, PMID:21743466 ; - oboInOwl:hasDbXref UMLS:C3470967 ; oboInOwl:hasExactSynonym "MIR365A", "micro RNA 365a", "mir365", @@ -328864,21 +342496,24 @@ OMIM:614735 a owl:Class ; "mirna365a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126355 ; - skos:exactMatch HGNC_symbol:MIR365A ; + skos:exactMatch UMLS:C3470967, + HGNC:33692, + HGNC_symbol:MIR365A ; biolink:category biolink:Gene . OMIM:614737 a owl:Class ; rdfs:label "MPC2" ; IAO:0000142 PMID:22628554, PMID:22628558 ; - oboInOwl:hasDbXref UMLS:C1826634 ; oboInOwl:hasExactSynonym "MPC2", "brain protein 44", "mitochondrial pyruvate carrier 2", "pyruvate carrier, mitochondrial, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25874 ; - skos:exactMatch HGNC_symbol:MPC2 ; + skos:exactMatch UMLS:C1826634, + HGNC:24515, + HGNC_symbol:MPC2 ; biolink:category biolink:Gene . OMIM:614738 a owl:Class ; @@ -328888,22 +342523,23 @@ OMIM:614738 a owl:Class ; PMID:22628558 ; RO:0002525 CHR:9606chr6q27 ; RO:0003303 OMIM:614741 ; - oboInOwl:hasDbXref UMLS:C1427642 ; oboInOwl:hasExactSynonym "MPC1", "brain protein 44-like", "mitochondrial pyruvate carrier 1", "pyruvate carrier, mitochondrial, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51660 ; - skos:exactMatch HGNC_symbol:MPC1 ; + skos:exactMatch UMLS:C1427642, + HGNC:21606, + HGNC_symbol:MPC1 ; biolink:category biolink:Gene . OMIM:614740 a owl:Class ; rdfs:label "basal cell carcinoma, susceptibility to, 7" ; IAO:0000142 PMID:21946351 ; - oboInOwl:hasDbXref UMLS:C3553606 ; oboInOwl:hasExactSynonym "BCC7", "basal cell carcinoma, susceptibility to, 7" ; + skos:exactMatch UMLS:C3553606 ; biolink:category biolink:Disease . OMIM:614742 a owl:Class ; @@ -328919,31 +342555,31 @@ OMIM:614742 a owl:Class ; PMID:21436073, PMID:21483807, PMID:22512499 ; - oboInOwl:hasDbXref UMLS:C3553617 ; oboInOwl:hasExactSynonym "PFBMFT1", "pulmonary fibrosis and/or bone marrow failure, telomere-related, 1" ; rdfs:subClassOf OMIMPS:614742 ; + skos:exactMatch UMLS:C3553617 ; biolink:category biolink:Disease . OMIM:614751 a owl:Class ; rdfs:label "neuronopathy, distal hereditary motor, iia 5b" ; IAO:0000142 PMID:22703882 ; - oboInOwl:hasDbXref UMLS:C3553656 ; oboInOwl:hasExactSynonym "HMN5B", "dhmn 5b", "hmn 5b", "neuronopathy, distal hereditary motor, iia 5b", "neuropathy, distal hereditary motor, iia 5b", "spinal muscular atrophy, distal, iia 5b" ; + skos:exactMatch UMLS:C3553656 ; biolink:category biolink:Disease . OMIM:614752 a owl:Class ; rdfs:label "interleukin 6, serum level of, quantitative trait locus" ; IAO:0000142 PMID:15306846, PMID:17357077 ; - oboInOwl:hasDbXref UMLS:C3540094 ; oboInOwl:hasExactSynonym "il6, serum level of, quantitative trait locus", "interleukin 6, serum level of, quantitative trait locus" ; + skos:exactMatch UMLS:C3540094 ; biolink:category biolink:Disease . OMIM:614753 a owl:Class ; @@ -328952,12 +342588,12 @@ OMIM:614753 a owl:Class ; PMID:22301465, PMID:26200704, PMID:26927468 ; - oboInOwl:hasDbXref UMLS:C3553660, - ORPHA:420179 ; oboInOwl:hasExactSynonym "MALNS", "malan overgrowth syndrome", "malan syndrome", "sotos syndrome 2, formerly" ; + skos:exactMatch UMLS:C3553660, + ORPHA:420179 ; biolink:category biolink:Disease . OMIM:614754 a owl:Class ; @@ -328966,25 +342602,27 @@ OMIM:614754 a owl:Class ; PMID:11863363, PMID:12609607, PMID:22932389 ; - oboInOwl:hasDbXref UMLS:C1422263 ; oboInOwl:hasExactSynonym "DMRT3", "dmrta3", "doublesex- and mab3-related transcription factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58524 ; - skos:exactMatch HGNC_symbol:DMRT3 ; + skos:exactMatch UMLS:C1422263, + HGNC:13909, + HGNC_symbol:DMRT3 ; biolink:category biolink:Gene . OMIM:614755 a owl:Class ; rdfs:label "MIR520H" ; IAO:0000142 PMID:20628378 ; - oboInOwl:hasDbXref UMLS:C1826103 ; oboInOwl:hasExactSynonym "MIR520H", "micro RNA 520h", "mirna520h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574493 ; - skos:exactMatch HGNC_symbol:MIR520H ; + skos:exactMatch UMLS:C1826103, + HGNC:32125, + HGNC_symbol:MIR520H ; biolink:category biolink:Gene . OMIM:614757 a owl:Class ; @@ -329001,14 +342639,15 @@ OMIM:614757 a owl:Class ; PMID:25251575 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:610967 ; - oboInOwl:hasDbXref UMLS:C1825562 ; oboInOwl:hasExactSynonym "IFITM5", "bone-restricted ifitm-like protein 5", "fragilis 4, mouse, homolog of", "interferon-induced transmembrane protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387733 ; - skos:exactMatch HGNC_symbol:IFITM5 ; + skos:exactMatch UMLS:C1825562, + HGNC:16644, + HGNC_symbol:IFITM5 ; biolink:category biolink:Gene . OMIM:614758 a owl:Class ; @@ -329018,7 +342657,6 @@ OMIM:614758 a owl:Class ; PMID:16554302, PMID:19109891, PMID:22772370 ; - oboInOwl:hasDbXref UMLS:C1423548 ; oboInOwl:hasExactSynonym "DCTN4", "dyn4", "dynactin 4", @@ -329026,7 +342664,9 @@ OMIM:614758 a owl:Class ; "p62" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51164 ; - skos:exactMatch HGNC_symbol:DCTN4 ; + skos:exactMatch UMLS:C1423548, + HGNC:15518, + HGNC_symbol:DCTN4 ; biolink:category biolink:Gene . OMIM:614759 a owl:Class ; @@ -329036,71 +342676,77 @@ OMIM:614759 a owl:Class ; PMID:25504577 ; RO:0002525 CHR:9606chr18q21.1 ; RO:0003303 OMIM:614779 ; - oboInOwl:hasDbXref UMLS:C1539069 ; oboInOwl:hasExactSynonym "CFAP53", "cilia- and flagella-associated protein 53", "coiled-coil domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220136 ; - skos:exactMatch HGNC_symbol:CFAP53 ; + skos:exactMatch UMLS:C1539069, + HGNC:26530, + HGNC_symbol:CFAP53 ; biolink:category biolink:Gene . OMIM:614760 a owl:Class ; rdfs:label "PQLC2" ; IAO:0000142 PMID:22822152, PMID:23169667 ; - oboInOwl:hasDbXref UMLS:C1428543 ; oboInOwl:hasExactSynonym "PQLC2", "pq loop repeat-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54896 ; - skos:exactMatch HGNC_symbol:SLC66A1 ; + skos:exactMatch UMLS:C1428543, + HGNC:26001, + HGNC_symbol:SLC66A1 ; biolink:category biolink:Gene . OMIM:614761 a owl:Class ; rdfs:label "GLYATL1" ; IAO:0000142 PMID:20305126, PMID:22475485 ; - oboInOwl:hasDbXref UMLS:C1825376 ; oboInOwl:hasExactSynonym "GLYATL1", "glycine n-acyltransferase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92292 ; - skos:exactMatch HGNC_symbol:GLYATL1 ; + skos:exactMatch UMLS:C1825376, + HGNC:30519, + HGNC_symbol:GLYATL1 ; biolink:category biolink:Gene . OMIM:614762 a owl:Class ; rdfs:label "GLYATL2" ; IAO:0000142 PMID:20305126, PMID:22408254 ; - oboInOwl:hasDbXref UMLS:C1825377 ; oboInOwl:hasExactSynonym "GLYATL2", "glycine n-acyltransferase-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219970 ; - skos:exactMatch HGNC_symbol:GLYATL2 ; + skos:exactMatch UMLS:C1825377, + HGNC:24178, + HGNC_symbol:GLYATL2 ; biolink:category biolink:Gene . OMIM:614763 a owl:Class ; rdfs:label "GLYATL3" ; IAO:0000142 PMID:20305126 ; - oboInOwl:hasDbXref UMLS:C1427499 ; oboInOwl:hasExactSynonym "GLYATL3", "glycine n-acyltransferase-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389396 ; - skos:exactMatch HGNC_symbol:GLYATL3 ; + skos:exactMatch UMLS:C1427499, + HGNC:21349, + HGNC_symbol:GLYATL3 ; biolink:category biolink:Gene . OMIM:614764 a owl:Class ; rdfs:label "KATNAL1" ; IAO:0000142 PMID:22654668 ; - oboInOwl:hasDbXref UMLS:C1428695 ; oboInOwl:hasExactSynonym "KATNAL1", "katanin, p60 subunit, a-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84056 ; - skos:exactMatch HGNC_symbol:KATNAL1 ; + skos:exactMatch UMLS:C1428695, + HGNC:28361, + HGNC_symbol:KATNAL1 ; biolink:category biolink:Gene . OMIM:614765 a owl:Class ; @@ -329112,12 +342758,13 @@ OMIM:614765 a owl:Class ; PMID:20596727, PMID:8769426, PMID:9693043 ; - oboInOwl:hasDbXref UMLS:C1420489 ; oboInOwl:hasExactSynonym "STRN", "striatin, calmodulin-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6801 ; - skos:exactMatch HGNC_symbol:STRN ; + skos:exactMatch UMLS:C1420489, + HGNC:11424, + HGNC_symbol:STRN ; biolink:category biolink:Gene . OMIM:614766 a owl:Class ; @@ -329127,44 +342774,46 @@ OMIM:614766 a owl:Class ; PMID:25531779, PMID:27626380, PMID:7864889 ; - oboInOwl:hasDbXref UMLS:C1423683 ; oboInOwl:hasExactSynonym "STRN3", "s/g2 nuclear antigen", "striatin, calmodulin-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29966 ; - skos:exactMatch HGNC_symbol:STRN3 ; + skos:exactMatch UMLS:C1423683, + HGNC:15720, + HGNC_symbol:STRN3 ; biolink:category biolink:Gene . OMIM:614767 a owl:Class ; rdfs:label "STRN4" ; IAO:0000142 PMID:10748158 ; - oboInOwl:hasDbXref UMLS:C1423684 ; oboInOwl:hasExactSynonym "STRN4", "striatin, calmodulin-binding protein 4", "zinedin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29888 ; - skos:exactMatch HGNC_symbol:STRN4 ; + skos:exactMatch UMLS:C1423684, + HGNC:15721, + HGNC_symbol:STRN4 ; biolink:category biolink:Gene . OMIM:614768 a owl:Class ; rdfs:label "TMEM66" ; IAO:0000142 PMID:22464749 ; - oboInOwl:hasDbXref UMLS:C1823330 ; oboInOwl:hasExactSynonym "TMEM66", "soce-associated regulatory factor", "transmembrane protein 66" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51669 ; - skos:exactMatch HGNC_symbol:SARAF ; + skos:exactMatch UMLS:C1823330, + HGNC:28789, + HGNC_symbol:SARAF ; biolink:category biolink:Gene . OMIM:614769 a owl:Class ; rdfs:label "COA1" ; IAO:0000142 PMID:22356826, PMID:23260140 ; - oboInOwl:hasDbXref UMLS:C1824229 ; oboInOwl:hasExactSynonym "COA1", "chromosome 7 open reading frame 44", "cytochrome c oxidase assembly factor 1 homolog", @@ -329172,7 +342821,9 @@ OMIM:614769 a owl:Class ; "mitochondrial translation regulation assembly intermediate of cytochrome c oxidase 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55744 ; - skos:exactMatch HGNC_symbol:COA1 ; + skos:exactMatch UMLS:C1824229, + HGNC:21868, + HGNC_symbol:COA1 ; biolink:category biolink:Gene . OMIM:614770 a owl:Class ; @@ -329182,15 +342833,16 @@ OMIM:614770 a owl:Class ; PMID:25293719 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:619055 ; - oboInOwl:hasDbXref UMLS:C3541664, - UMLS:C5436695 ; oboInOwl:hasExactSynonym "PET100", "chromosome 19 open reading frame 79", "pet100 cytochrome c oxidase chaperone", "pet100, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100131801 ; - skos:exactMatch HGNC_symbol:PET100 ; + skos:exactMatch UMLS:C3541664, + UMLS:C5436695, + HGNC:40038, + HGNC_symbol:PET100 ; biolink:category biolink:Gene . OMIM:614771 a owl:Class ; @@ -329200,14 +342852,15 @@ OMIM:614771 a owl:Class ; PMID:28386624 ; RO:0002525 CHR:9606chr20p11.23 ; RO:0003303 OMIM:619063 ; - oboInOwl:hasDbXref UMLS:C3471365, - UMLS:C5436723 ; oboInOwl:hasExactSynonym "PET117", "pet117 cytochrome c oxidase chaperone", "pet117, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100303755 ; - skos:exactMatch HGNC_symbol:PET117 ; + skos:exactMatch UMLS:C3471365, + UMLS:C5436723, + HGNC:40045, + HGNC_symbol:PET117 ; biolink:category biolink:Gene . OMIM:614772 a owl:Class ; @@ -329220,40 +342873,43 @@ OMIM:614772 a owl:Class ; PMID:26160915 ; RO:0002525 CHR:9606chr1q42.2 ; RO:0003303 OMIM:616501 ; - oboInOwl:hasDbXref UMLS:C1425251, - UMLS:C4225304 ; oboInOwl:hasExactSynonym "COA6", "chromosome 1 open reading frame 31", "cytochrome c oxidase assembly factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388753 ; - skos:exactMatch HGNC_symbol:COA6 ; + skos:exactMatch UMLS:C1425251, + UMLS:C4225304, + HGNC:18025, + HGNC_symbol:COA6 ; biolink:category biolink:Gene . OMIM:614773 a owl:Class ; rdfs:label "MSS51" ; IAO:0000142 PMID:22356826 ; - oboInOwl:hasDbXref UMLS:C3471123 ; oboInOwl:hasExactSynonym "MSS51", "mss51 mitochondrial translational activator", "mss51 mitochondrial translational activator, s. cerevisiae, homolog of", "zinc finger mynd domain-containing 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118490 ; - skos:exactMatch HGNC_symbol:MSS51 ; + skos:exactMatch UMLS:C3471123, + HGNC:21000, + HGNC_symbol:MSS51 ; biolink:category biolink:Gene . OMIM:614774 a owl:Class ; rdfs:label "PTCD1" ; IAO:0000142 PMID:22356826, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1427759 ; oboInOwl:hasExactSynonym "PTCD1", "kiaa0632", "pentatricopeptide repeat domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26024 ; - skos:exactMatch HGNC_symbol:PTCD1 ; + skos:exactMatch UMLS:C1427759, + HGNC:22198, + HGNC_symbol:PTCD1 ; biolink:category biolink:Gene . OMIM:614775 a owl:Class ; @@ -329264,15 +342920,16 @@ OMIM:614775 a owl:Class ; PMID:25604084 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:619058 ; - oboInOwl:hasDbXref UMLS:C1824580, - UMLS:C5436710 ; oboInOwl:hasExactSynonym "COA3", "coiled-coil domain-containing protein 56", "cytochrome c oxidase assembly factor 3", "mitochondrial translation regulation assembly intermediate of cytochrome c oxidase 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28958 ; - skos:exactMatch HGNC_symbol:COA3 ; + skos:exactMatch UMLS:C1824580, + UMLS:C5436710, + HGNC:24990, + HGNC_symbol:COA3 ; biolink:category biolink:Gene . OMIM:614776 a owl:Class ; @@ -329288,15 +342945,16 @@ OMIM:614776 a owl:Class ; PMID:31430259 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:618162 ; - oboInOwl:hasDbXref UMLS:C2828701, - UMLS:C4748455 ; oboInOwl:hasExactSynonym "SIK3", "kiaa0999", "salt-inducible kinase 3", "sik family kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23387 ; - skos:exactMatch HGNC_symbol:SIK3 ; + skos:exactMatch UMLS:C2828701, + UMLS:C4748455, + HGNC:29165, + HGNC_symbol:SIK3 ; biolink:category biolink:Gene . OMIM:614777 a owl:Class ; @@ -329309,13 +342967,14 @@ OMIM:614777 a owl:Class ; PMID:22678361, PMID:22678362, PMID:23891004 ; - oboInOwl:hasDbXref UMLS:C1422218 ; oboInOwl:hasExactSynonym "MMS19", "mms19 nucleotide excision repair, s. cerevisiae, homolog of", "mms19-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64210 ; - skos:exactMatch HGNC_symbol:MMS19 ; + skos:exactMatch UMLS:C1422218, + HGNC:13824, + HGNC_symbol:MMS19 ; biolink:category biolink:Gene . OMIM:614778 a owl:Class ; @@ -329324,7 +342983,6 @@ OMIM:614778 a owl:Class ; PMID:22678361, PMID:22678362, PMID:23891004 ; - oboInOwl:hasDbXref UMLS:C1825216 ; oboInOwl:hasExactSynonym "CIAO2B", "cia2b", "cytosolic iron-sulfur assembly component 2b", @@ -329332,7 +342990,9 @@ OMIM:614778 a owl:Class ; "mss19-interacting protein of 18 kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51647 ; - skos:exactMatch HGNC_symbol:CIAO2B ; + skos:exactMatch UMLS:C1825216, + HGNC:24261, + HGNC_symbol:CIAO2B ; biolink:category biolink:Gene . OMIM:614780 a owl:Class ; @@ -329344,12 +343004,13 @@ OMIM:614780 a owl:Class ; PMID:23123320 ; RO:0002525 CHR:9606chr7p15.2 ; RO:0003303 OMIM:615085 ; - oboInOwl:hasDbXref UMLS:C1423101 ; oboInOwl:hasExactSynonym "SNX10", "sorting nexin 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29887 ; - skos:exactMatch HGNC_symbol:SNX10 ; + skos:exactMatch UMLS:C1423101, + HGNC:14974, + HGNC_symbol:SNX10 ; biolink:category biolink:Gene . OMIM:614781 a owl:Class ; @@ -329357,13 +343018,14 @@ OMIM:614781 a owl:Class ; IAO:0000142 PMID:10718198, PMID:20562859, PMID:22342342 ; - oboInOwl:hasDbXref UMLS:C2680468 ; oboInOwl:hasExactSynonym "TECPR1", "kiaa1358", "tectonin beta-propeller repeat-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25851 ; - skos:exactMatch HGNC_symbol:TECPR1 ; + skos:exactMatch UMLS:C2680468, + HGNC:22214, + HGNC_symbol:TECPR1 ; biolink:category biolink:Gene . OMIM:614783 a owl:Class ; @@ -329375,7 +343037,6 @@ OMIM:614783 a owl:Class ; PMID:22840364 ; RO:0002525 CHR:9606chr3p21.2 ; RO:0003303 OMIM:614813 ; - oboInOwl:hasDbXref UMLS:C1538095 ; oboInOwl:hasExactSynonym "POC1A", "pix2", "poc1 centriolar protein a", @@ -329383,7 +343044,9 @@ OMIM:614783 a owl:Class ; "proteome of centriole 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25886 ; - skos:exactMatch HGNC_symbol:POC1A ; + skos:exactMatch UMLS:C1538095, + HGNC:24488, + HGNC_symbol:POC1A ; biolink:category biolink:Gene . OMIM:614784 a owl:Class ; @@ -329396,7 +343059,6 @@ OMIM:614784 a owl:Class ; PMID:25044745 ; RO:0002525 CHR:9606chr12q21.33 ; RO:0003303 OMIM:615973 ; - oboInOwl:hasDbXref UMLS:C1538096 ; oboInOwl:hasExactSynonym "POC1B", "pix1", "poc1 centriolar protein B", @@ -329404,7 +343066,9 @@ OMIM:614784 a owl:Class ; "proteome of the centriole 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282809 ; - skos:exactMatch HGNC_symbol:POC1B ; + skos:exactMatch UMLS:C1538096, + HGNC:30836, + HGNC_symbol:POC1B ; biolink:category biolink:Gene . OMIM:614785 a owl:Class ; @@ -329416,24 +343080,26 @@ OMIM:614785 a owl:Class ; PMID:32181496 ; RO:0002525 CHR:9606chr2q36.3 ; RO:0003303 OMIM:617086 ; - oboInOwl:hasDbXref UMLS:C1540223 ; oboInOwl:hasExactSynonym "MFF", "chromosome 2 open reading frame 33", "mitochondrial fission factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56947 ; - skos:exactMatch HGNC_symbol:MFF ; + skos:exactMatch UMLS:C1540223, + HGNC:24858, + HGNC_symbol:MFF ; biolink:category biolink:Gene . OMIM:614786 a owl:Class ; rdfs:label "TMEM207" ; IAO:0000142 PMID:22226915 ; - oboInOwl:hasDbXref UMLS:C2240111 ; oboInOwl:hasExactSynonym "TMEM207", "transmembrane protein 207" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131920 ; - skos:exactMatch HGNC_symbol:TMEM207 ; + skos:exactMatch UMLS:C2240111, + HGNC:33705, + HGNC_symbol:TMEM207 ; biolink:category biolink:Gene . OMIM:614787 a owl:Class ; @@ -329447,24 +343113,26 @@ OMIM:614787 a owl:Class ; PMID:9455484 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:616364 ; - oboInOwl:hasDbXref UMLS:C1425785 ; oboInOwl:hasExactSynonym "POGZ", "kiaa0461", "pogo transposable element with znf domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23126 ; - skos:exactMatch HGNC_symbol:POGZ ; + skos:exactMatch UMLS:C1425785, + HGNC:18801, + HGNC_symbol:POGZ ; biolink:category biolink:Gene . OMIM:614788 a owl:Class ; rdfs:label "FGD5" ; IAO:0000142 PMID:22328776 ; - oboInOwl:hasDbXref UMLS:C1426023 ; oboInOwl:hasExactSynonym "FGD5", "fyve, rhogef, and ph domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152273 ; - skos:exactMatch HGNC_symbol:FGD5 ; + skos:exactMatch UMLS:C1426023, + HGNC:19117, + HGNC_symbol:FGD5 ; biolink:category biolink:Gene . OMIM:614789 a owl:Class ; @@ -329474,15 +343142,16 @@ OMIM:614789 a owl:Class ; PMID:31368252 ; RO:0002525 CHR:9606chr3p14.1 ; RO:0003303 OMIM:615297 ; - oboInOwl:hasDbXref UMLS:C1824159, - UMLS:C3809092 ; oboInOwl:hasExactSynonym "EOGT", "chromosome 3 open reading frame 64", "egf domain-specific o-linked n-acetylglucosamine transferase", "eogt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285203 ; - skos:exactMatch HGNC_symbol:EOGT ; + skos:exactMatch UMLS:C1824159, + UMLS:C3809092, + HGNC:28526, + HGNC_symbol:EOGT ; biolink:category biolink:Gene . OMIM:614790 a owl:Class ; @@ -329491,32 +343160,33 @@ OMIM:614790 a owl:Class ; PMID:19785987, PMID:20086015, PMID:21900451 ; - oboInOwl:hasDbXref UMLS:C1538114 ; oboInOwl:hasExactSynonym "WTIP", "wt1-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126374 ; - skos:exactMatch HGNC_symbol:WTIP ; + skos:exactMatch UMLS:C1538114, + HGNC:20964, + HGNC_symbol:WTIP ; biolink:category biolink:Gene . OMIM:614791 a owl:Class ; rdfs:label "MIR199B" ; IAO:0000142 PMID:19308264, PMID:21102440 ; - oboInOwl:hasDbXref UMLS:C1537837 ; oboInOwl:hasExactSynonym "MIR199B", "micro RNA 199b", "mirn199b", "mirna199b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406978 ; - skos:exactMatch HGNC_symbol:MIR199B ; + skos:exactMatch UMLS:C1537837, + HGNC:31573, + HGNC_symbol:MIR199B ; biolink:category biolink:Gene . OMIM:614792 a owl:Class ; rdfs:label "TMUB1" ; IAO:0000142 PMID:19254477 ; - oboInOwl:hasDbXref UMLS:C1823455 ; oboInOwl:hasExactSynonym "TMUB1", "chromosome 7 open reading frame 21", "dendritic cell-derived ubiquitin-like protein", @@ -329524,21 +343194,24 @@ OMIM:614792 a owl:Class ; "transmembrane and ubiquitin-like domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83590 ; - skos:exactMatch HGNC_symbol:TMUB1 ; + skos:exactMatch UMLS:C1823455, + HGNC:21709, + HGNC_symbol:TMUB1 ; biolink:category biolink:Gene . OMIM:614793 a owl:Class ; rdfs:label "MAP3K21" ; IAO:0000142 PMID:11347906, PMID:21602844 ; - oboInOwl:hasDbXref UMLS:C3553689 ; oboInOwl:hasExactSynonym "MAP3K21", "kiaa1804", "mitogen-activated protein kinase kinase kinase 21", "mixed-lineage kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84451 ; - skos:exactMatch HGNC_symbol:MAP3K21 ; + skos:exactMatch UMLS:C3553689, + HGNC:29798, + HGNC_symbol:MAP3K21 ; biolink:category biolink:Gene . OMIM:614794 a owl:Class ; @@ -329546,7 +343219,6 @@ OMIM:614794 a owl:Class ; IAO:0000142 PMID:15367102, PMID:20537980, PMID:21173190 ; - oboInOwl:hasDbXref UMLS:C1412283 ; oboInOwl:hasExactSynonym "1-acyl-sn-glycerol 3-phosphate acyltransferase 3", "1-acylglycerol-3-phosphate o-acyltransferase 3", "AGPAT3", @@ -329555,7 +343227,9 @@ OMIM:614794 a owl:Class ; "lysophosphatidic acid acyltransferase, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56894 ; - skos:exactMatch HGNC_symbol:AGPAT3 ; + skos:exactMatch UMLS:C1412283, + HGNC:326, + HGNC_symbol:AGPAT3 ; biolink:category biolink:Gene . OMIM:614795 a owl:Class ; @@ -329564,7 +343238,6 @@ OMIM:614795 a owl:Class ; PMID:21173190, PMID:28807933, PMID:9828130 ; - oboInOwl:hasDbXref UMLS:C1427190 ; oboInOwl:hasExactSynonym "1-acyl-sn-glycerol 3-phosphate acyltransferase 4", "1-acylglycerol-3-phosphate o-acyltransferase 4", "AGPAT4", @@ -329572,14 +343245,15 @@ OMIM:614795 a owl:Class ; "lysophosphatidic acid acyltransferase, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56895 ; - skos:exactMatch HGNC_symbol:AGPAT4 ; + skos:exactMatch UMLS:C1427190, + HGNC:20885, + HGNC_symbol:AGPAT4 ; biolink:category biolink:Gene . OMIM:614796 a owl:Class ; rdfs:label "AGPAT5" ; IAO:0000142 PMID:15367102, PMID:21173190 ; - oboInOwl:hasDbXref UMLS:C1540194 ; oboInOwl:hasExactSynonym "1-acyl-sn-glycerol 3-phosphate acyltransferase 5", "1-acylglycerol-3-phosphate o-acyltransferase 5", "AGPAT5", @@ -329587,7 +343261,9 @@ OMIM:614796 a owl:Class ; "lysophosphatidic acid acyltransferase, epsilon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55326 ; - skos:exactMatch HGNC_symbol:AGPAT5 ; + skos:exactMatch UMLS:C1540194, + HGNC:20886, + HGNC_symbol:AGPAT5 ; biolink:category biolink:Gene . OMIM:614797 a owl:Class ; @@ -329595,13 +343271,14 @@ OMIM:614797 a owl:Class ; IAO:0000142 PMID:11306823, PMID:12804775, PMID:16951688 ; - oboInOwl:hasDbXref UMLS:C1418453 ; oboInOwl:hasExactSynonym "PELI1", "pellino e3 ubiquitin protein ligase 1", "pellino, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57162 ; - skos:exactMatch HGNC_symbol:PELI1 ; + skos:exactMatch UMLS:C1418453, + HGNC:8827, + HGNC_symbol:PELI1 ; biolink:category biolink:Gene . OMIM:614798 a owl:Class ; @@ -329611,24 +343288,26 @@ OMIM:614798 a owl:Class ; PMID:12860405, PMID:15213237, PMID:22669975 ; - oboInOwl:hasDbXref UMLS:C1418454 ; oboInOwl:hasExactSynonym "PELI2", "pellino e3 ubiquitin protein ligase 2", "pellino, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57161 ; - skos:exactMatch HGNC_symbol:PELI2 ; + skos:exactMatch UMLS:C1418454, + HGNC:8828, + HGNC_symbol:PELI2 ; biolink:category biolink:Gene . OMIM:614799 a owl:Class ; rdfs:label "C1ORF109" ; IAO:0000142 PMID:22548824 ; - oboInOwl:hasDbXref UMLS:C1823729 ; oboInOwl:hasExactSynonym "C1ORF109", "chromosome 1 open reading frame 109" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54955 ; - skos:exactMatch HGNC_symbol:C1orf109 ; + skos:exactMatch UMLS:C1823729, + HGNC:26039, + HGNC_symbol:C1orf109 ; biolink:category biolink:Gene . OMIM:614801 a owl:Class ; @@ -329636,13 +343315,14 @@ OMIM:614801 a owl:Class ; IAO:0000142 PMID:16227571, PMID:19650074, PMID:21726816 ; - oboInOwl:hasDbXref UMLS:C2681844 ; oboInOwl:hasExactSynonym "MSL1", "male-specific lethal 1, drosophila, homolog of", "msl complex subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339287 ; - skos:exactMatch HGNC_symbol:MSL1 ; + skos:exactMatch UMLS:C2681844, + HGNC:27905, + HGNC_symbol:MSL1 ; biolink:category biolink:Gene . OMIM:614802 a owl:Class ; @@ -329650,27 +343330,29 @@ OMIM:614802 a owl:Class ; IAO:0000142 PMID:10997877, PMID:16227571, PMID:21726816 ; - oboInOwl:hasDbXref UMLS:C1826309 ; oboInOwl:hasExactSynonym "MSL2", "kiaa1585", "male-specific lethal 2, drosophila, homolog of", "msl complex subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55167 ; - skos:exactMatch HGNC_symbol:MSL2 ; + skos:exactMatch UMLS:C1826309, + HGNC:25544, + HGNC_symbol:MSL2 ; biolink:category biolink:Gene . OMIM:614803 a owl:Class ; rdfs:label "DMRTA1" ; IAO:0000142 PMID:11863363, PMID:16982677 ; - oboInOwl:hasDbXref UMLS:C1422220 ; oboInOwl:hasExactSynonym "DMRTA1", "dmrt4", "doublesex- and mab3-related transcription factor a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63951 ; - skos:exactMatch HGNC_symbol:DMRTA1 ; + skos:exactMatch UMLS:C1422220, + HGNC:13826, + HGNC_symbol:DMRTA1 ; biolink:category biolink:Gene . OMIM:614804 a owl:Class ; @@ -329680,48 +343362,52 @@ OMIM:614804 a owl:Class ; PMID:25489906, PMID:28031177, PMID:28655839 ; - oboInOwl:hasDbXref UMLS:C1422262 ; oboInOwl:hasExactSynonym "DMRTA2", "dmrt5", "doublesex- and mab3-related transcription factor a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63950 ; - skos:exactMatch HGNC_symbol:DMRTA2 ; + skos:exactMatch UMLS:C1422262, + HGNC:13908, + HGNC_symbol:DMRTA2 ; biolink:category biolink:Gene . OMIM:614805 a owl:Class ; rdfs:label "DMRTB1" ; IAO:0000142 PMID:11863363 ; - oboInOwl:hasDbXref UMLS:C1422266 ; oboInOwl:hasExactSynonym "DMRTB1", "doublesex- and mab3-related transcription factor b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63948 ; - skos:exactMatch HGNC_symbol:DMRTB1 ; + skos:exactMatch UMLS:C1422266, + HGNC:13913, + HGNC_symbol:DMRTB1 ; biolink:category biolink:Gene . OMIM:614806 a owl:Class ; rdfs:label "DMRTC2" ; IAO:0000142 PMID:11863363 ; - oboInOwl:hasDbXref UMLS:C1422265 ; oboInOwl:hasExactSynonym "DMRTC2", "doublesex- and mab3-related transcription factor c2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63946 ; - skos:exactMatch HGNC_symbol:DMRTC2 ; + skos:exactMatch UMLS:C1422265, + HGNC:13911, + HGNC_symbol:DMRTC2 ; biolink:category biolink:Gene . OMIM:614811 a owl:Class ; rdfs:label "L3HYPDH" ; IAO:0000142 PMID:22528483 ; - oboInOwl:hasDbXref UMLS:C1539037 ; oboInOwl:hasExactSynonym "L3HYPDH", "chromosome 14 open reading frame 149", "l-3-hydroxyproline dehydratase, trans", "trans-3-hydroxyl-l-proline dehydratase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112849 ; - skos:exactMatch HGNC_symbol:L3HYPDH ; + skos:exactMatch UMLS:C1539037, + HGNC:20488, + HGNC_symbol:L3HYPDH ; biolink:category biolink:Gene . OMIM:614812 a owl:Class ; @@ -329732,47 +343418,49 @@ OMIM:614812 a owl:Class ; PMID:19650074, PMID:21344397, PMID:22565310 ; - oboInOwl:hasDbXref UMLS:C2829966 ; oboInOwl:hasExactSynonym "NUPR1", "candidate of metastasis 1", "nuclear protein, transcriptional regulator, 1", "p8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26471 ; - skos:exactMatch HGNC_symbol:NUPR1 ; + skos:exactMatch UMLS:C2829966, + HGNC:29990, + HGNC_symbol:NUPR1 ; biolink:category biolink:Gene . OMIM:614815 a owl:Class ; rdfs:label "joubert syndrome 18" ; IAO:0000142 PMID:22883145 ; - oboInOwl:hasDbXref UMLS:C3553758 ; oboInOwl:hasExactSynonym "JBTS18", "joubert syndrome 18" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C3553758 ; biolink:category biolink:Disease . OMIM:614818 a owl:Class ; rdfs:label "FRY" ; IAO:0000142 PMID:15473964, PMID:22753416 ; - oboInOwl:hasDbXref UMLS:C1825319 ; oboInOwl:hasExactSynonym "FRY", "chromosome 13 open reading frame 14", "fry microtubule-binding protein", "furry, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10129 ; - skos:exactMatch HGNC_symbol:FRY ; + skos:exactMatch UMLS:C1825319, + HGNC:20367, + HGNC_symbol:FRY ; biolink:category biolink:Gene . OMIM:614819 a owl:Class ; rdfs:label "weill-marchesani syndrome 3" ; IAO:0000142 PMID:11941487, PMID:22539340 ; - oboInOwl:hasDbXref UMLS:C3553785 ; oboInOwl:hasExactSynonym "WMS3", "weill-marchesani syndrome 3" ; rdfs:subClassOf OMIMPS:277600 ; + skos:exactMatch UMLS:C3553785 ; biolink:category biolink:Disease . OMIM:614820 a owl:Class ; @@ -329784,22 +343472,23 @@ OMIM:614820 a owl:Class ; PMID:26410222, PMID:32913013, PMID:5089756 ; - oboInOwl:hasDbXref UMLS:C3553788 ; oboInOwl:hasExactSynonym "AHC2", "alternating hemiplegia of childhood 2" ; rdfs:subClassOf OMIMPS:104290 ; + skos:exactMatch UMLS:C3553788 ; biolink:category biolink:Disease . OMIM:614821 a owl:Class ; rdfs:label "PTCSC3" ; IAO:0000142 PMID:20350937, PMID:22586128 ; - oboInOwl:hasDbXref UMLS:C3540258 ; oboInOwl:hasExactSynonym "PTCSC3", "ptcsc3 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100886964 ; - skos:exactMatch HGNC_symbol:PTCSC3 ; + skos:exactMatch UMLS:C3540258, + HGNC:43959, + HGNC_symbol:PTCSC3 ; biolink:category biolink:Gene . OMIM:614823 a owl:Class ; @@ -329807,26 +343496,27 @@ OMIM:614823 a owl:Class ; IAO:0000142 PMID:22275001, PMID:30796334, PMID:30848080 ; - oboInOwl:hasDbXref UMLS:C3542024 ; oboInOwl:hasExactSynonym "AOVD2", "aortic valve disease 2", "aortic valve stenosis", "bicuspid aortic valve" ; rdfs:subClassOf OMIMPS:109730 ; + skos:exactMatch UMLS:C3542024 ; biolink:category biolink:Disease . OMIM:614824 a owl:Class ; rdfs:label "AP5S1" ; IAO:0000142 PMID:20613862, PMID:22022230 ; - oboInOwl:hasDbXref UMLS:C3471304 ; oboInOwl:hasExactSynonym "AP5S1", "adaptor-related protein complex 5, sigma-1 subunit", "chromosome 20 open reading frame 29", "sigma 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55317 ; - skos:exactMatch HGNC_symbol:AP5S1 ; + skos:exactMatch UMLS:C3471304, + HGNC:15875, + HGNC_symbol:AP5S1 ; biolink:category biolink:Gene . OMIM:614825 a owl:Class ; @@ -329836,24 +343526,26 @@ OMIM:614825 a owl:Class ; PMID:29395073 ; RO:0002525 CHR:9606chr6q24.1 ; RO:0003303 OMIM:617916 ; - oboInOwl:hasDbXref UMLS:C1423590 ; oboInOwl:hasExactSynonym "REPS1", "ralbp1-associated eps domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85021 ; - skos:exactMatch HGNC_symbol:REPS1 ; + skos:exactMatch UMLS:C1423590, + HGNC:15578, + HGNC_symbol:REPS1 ; biolink:category biolink:Gene . OMIM:614827 a owl:Class ; rdfs:label "DNAJC11" ; IAO:0000142 PMID:12964007, PMID:24191001 ; - oboInOwl:hasDbXref UMLS:C1539296 ; oboInOwl:hasExactSynonym "DNAJC11", "dnaj/hsp40 homolog, subfamily c, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55735 ; - skos:exactMatch HGNC_symbol:DNAJC11 ; + skos:exactMatch UMLS:C1539296, + HGNC:25570, + HGNC_symbol:DNAJC11 ; biolink:category biolink:Gene . OMIM:614828 a owl:Class ; @@ -329863,7 +343555,6 @@ OMIM:614828 a owl:Class ; PMID:27066570 ; RO:0002525 CHR:9606chr3p22.1 ; RO:0003303 OMIM:618135 ; - oboInOwl:hasDbXref UMLS:C1824135 ; oboInOwl:hasExactSynonym "POMGNT2", "ago61", "chromosome 3 open reading frame 39", @@ -329871,7 +343562,9 @@ OMIM:614828 a owl:Class ; "protein o-mannose beta-1,4-n-acetylglucosaminyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84892 ; - skos:exactMatch HGNC_symbol:POMGNT2 ; + skos:exactMatch UMLS:C1824135, + HGNC:25902, + HGNC_symbol:POMGNT2 ; biolink:category biolink:Gene . OMIM:614829 a owl:Class ; @@ -329879,34 +343572,36 @@ OMIM:614829 a owl:Class ; IAO:0000142 PMID:22901946 ; RO:0002525 CHR:9606chr4q21.1 ; RO:0003303 OMIM:614832 ; - oboInOwl:hasDbXref UMLS:C1824169 ; oboInOwl:hasExactSynonym "ODAPH", "chromosome 4 open reading frame 26", "odontogenesis-associated phosphoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152816 ; - skos:exactMatch HGNC_symbol:ODAPH ; + skos:exactMatch UMLS:C1824169, + HGNC:26300, + HGNC_symbol:ODAPH ; biolink:category biolink:Gene . OMIM:614830 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 8" ; IAO:0000142 PMID:22958903 ; - oboInOwl:hasDbXref UMLS:C3553813 ; oboInOwl:hasExactSynonym "MDDGA8", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 8", "walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3553813 ; biolink:category biolink:Disease . OMIM:614835 a owl:Class ; rdfs:label "ACTBL2" ; IAO:0000142 PMID:16824795 ; - oboInOwl:hasDbXref UMLS:C1538904 ; oboInOwl:hasExactSynonym "ACTBL2", "actin, beta-like, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345651 ; - skos:exactMatch HGNC_symbol:ACTBL2 ; + skos:exactMatch UMLS:C1538904, + HGNC:17780, + HGNC_symbol:ACTBL2 ; biolink:category biolink:Gene . OMIM:614843 a owl:Class ; @@ -329916,22 +343611,23 @@ OMIM:614843 a owl:Class ; PMID:17451507, PMID:17647262, PMID:18472969 ; - oboInOwl:hasDbXref UMLS:C1826507 ; oboInOwl:hasExactSynonym "ODAM", "apin", "odontogenic ameloblast-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54959 ; - skos:exactMatch HGNC_symbol:ODAM ; + skos:exactMatch UMLS:C1826507, + HGNC:26043, + HGNC_symbol:ODAM ; biolink:category biolink:Gene . OMIM:614846 a owl:Class ; rdfs:label "tetrasomy 15q26" ; IAO:0000142 PMID:22653535 ; RO:0002525 CHR:9606chr15q26-qter ; - oboInOwl:hasDbXref UMLS:C3553858 ; oboInOwl:hasExactSynonym "levy-shanske syndrome", "tetrasomy 15q26" ; + skos:exactMatch UMLS:C3553858 ; biolink:category biolink:Disease . OMIM:614848 a owl:Class ; @@ -329945,13 +343641,14 @@ OMIM:614848 a owl:Class ; PMID:23150559 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:614845 ; - oboInOwl:hasDbXref UMLS:C1824720 ; oboInOwl:hasExactSynonym "CEP164", "centrosomal protein, 164-kd", "kiaa1052" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22897 ; - skos:exactMatch HGNC_symbol:CEP164 ; + skos:exactMatch UMLS:C1824720, + HGNC:29182, + HGNC_symbol:CEP164 ; biolink:category biolink:Gene . OMIM:614852 a owl:Class ; @@ -329961,17 +343658,16 @@ OMIM:614852 a owl:Class ; PMID:20598275, PMID:22775483, PMID:22983954 ; - oboInOwl:hasDbXref UMLS:C3553886 ; oboInOwl:hasExactSynonym "MCPH9", "microcephaly 9, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C3553886 ; biolink:category biolink:Disease . OMIM:614853 a owl:Class ; rdfs:label "CRLF3" ; IAO:0000142 PMID:11468690, PMID:19427400 ; - oboInOwl:hasDbXref UMLS:C1424799 ; oboInOwl:hasExactSynonym "CRLF3", "creme9", "cytokine receptor-like factor 3", @@ -329979,33 +343675,37 @@ OMIM:614853 a owl:Class ; "cytokine receptor-related protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51379 ; - skos:exactMatch HGNC_symbol:CRLF3 ; + skos:exactMatch UMLS:C1424799, + HGNC:17177, + HGNC_symbol:CRLF3 ; biolink:category biolink:Gene . OMIM:614854 a owl:Class ; rdfs:label "LRRC59" ; IAO:0000142 PMID:11964394, PMID:22321063 ; - oboInOwl:hasDbXref UMLS:C1825904 ; oboInOwl:hasExactSynonym "LRRC59", "leucine-rich repeat-containing protein 59", "p34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55379 ; - skos:exactMatch HGNC_symbol:LRRC59 ; + skos:exactMatch UMLS:C1825904, + HGNC:28817, + HGNC_symbol:LRRC59 ; biolink:category biolink:Gene . OMIM:614855 a owl:Class ; rdfs:label "TBC1D14" ; IAO:0000142 PMID:10718198, PMID:22613832 ; - oboInOwl:hasDbXref UMLS:C1428819 ; oboInOwl:hasExactSynonym "TBC1D14", "kiaa1322", "tbc1 domain family, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57533 ; - skos:exactMatch HGNC_symbol:TBC1D14 ; + skos:exactMatch UMLS:C1428819, + HGNC:29246, + HGNC_symbol:TBC1D14 ; biolink:category biolink:Gene . OMIM:614859 a owl:Class ; @@ -330014,21 +343714,21 @@ OMIM:614859 a owl:Class ; PMID:9090384, PMID:9354782, PMID:9632816 ; - oboInOwl:hasDbXref UMLS:C1866340, - UMLS:C3553929 ; oboInOwl:hasExactSynonym "PBD3A", "peroxisome biogenesis disorder 3a (zellweger)", "peroxisome biogenesis disorder, complementation group 3" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C1866340, + UMLS:C3553929 ; biolink:category biolink:Disease . OMIM:614861 a owl:Class ; rdfs:label "deafness, autosomal recessive 98" ; IAO:0000142 PMID:22678063 ; - oboInOwl:hasDbXref UMLS:C3553932 ; oboInOwl:hasExactSynonym "DFNB98", "deafness, autosomal recessive 98" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3553932 ; biolink:category biolink:Disease . OMIM:614862 a owl:Class ; @@ -330036,16 +343736,16 @@ OMIM:614862 a owl:Class ; IAO:0000142 PMID:17055079, PMID:8670792, PMID:8940266 ; - oboInOwl:hasDbXref UMLS:C1832230, - UMLS:C1832231, - UMLS:C1832232, - UMLS:C3553936 ; oboInOwl:hasExactSynonym "PBD4A", "peroxisome biogenesis disorder 4a (zellweger)", "peroxisome biogenesis disorder, complementation group 4", "peroxisome biogenesis disorder, complementation group 6", "peroxisome biogenesis disorder, complementation group c" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C1832230, + UMLS:C1832231, + UMLS:C1832232, + UMLS:C3553936 ; biolink:category biolink:Disease . OMIM:614864 a owl:Class ; @@ -330055,25 +343755,27 @@ OMIM:614864 a owl:Class ; PMID:29363216 ; RO:0002525 CHR:9606chr7p22.3 ; RO:0003303 OMIM:614874 ; - oboInOwl:hasDbXref UMLS:C1825454 ; oboInOwl:hasExactSynonym "DNAAF5", "dynein axonemal assembly factor 5", "heat repeat-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54919 ; - skos:exactMatch HGNC_symbol:DNAAF5 ; + skos:exactMatch UMLS:C1825454, + HGNC:26013, + HGNC_symbol:DNAAF5 ; biolink:category biolink:Gene . OMIM:614865 a owl:Class ; rdfs:label "DBET" ; IAO:0000142 PMID:22541069 ; - oboInOwl:hasDbXref UMLS:C3553939 ; oboInOwl:hasExactSynonym "DBET", "d4z4 binding element transcript, noncoding", "dbe transcript, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100419743 ; - skos:exactMatch HGNC_symbol:DBET ; + skos:exactMatch UMLS:C3553939, + HGNC:43904, + HGNC_symbol:DBET ; biolink:category biolink:Gene . OMIM:614866 a owl:Class ; @@ -330082,16 +343784,16 @@ OMIM:614866 a owl:Class ; PMID:1546315, PMID:17055079, PMID:7681622 ; - oboInOwl:hasDbXref UMLS:C3539010, - UMLS:C3553940, - UMLS:C3553941, - UMLS:C3553942 ; oboInOwl:hasExactSynonym "PBD5A", "peroxisome biogenesis disorder 5a (zellweger)", "peroxisome biogenesis disorder, complementation group 10", "peroxisome biogenesis disorder, complementation group 5", "peroxisome biogenesis disorder, complementation group f" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3539010, + UMLS:C3553940, + UMLS:C3553941, + UMLS:C3553942 ; biolink:category biolink:Disease . OMIM:614870 a owl:Class ; @@ -330102,13 +343804,13 @@ OMIM:614870 a owl:Class ; PMID:8771174, PMID:9683594, PMID:9700193 ; - oboInOwl:hasDbXref UMLS:C1864399, - UMLS:C3553947 ; oboInOwl:hasExactSynonym "PBD6A", "peroxisome biogenesis disorder 6a (zellweger)", "peroxisome biogenesis disorder, complementation group 7", "peroxisome biogenesis disorder, complementation group B" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C1864399, + UMLS:C3553947 ; biolink:category biolink:Disease . OMIM:614872 a owl:Class ; @@ -330117,14 +343819,14 @@ OMIM:614872 a owl:Class ; PMID:15858711, PMID:17055079, PMID:17336976 ; - oboInOwl:hasDbXref UMLS:C3539168, - UMLS:C3553950, - UMLS:C3888385 ; oboInOwl:hasExactSynonym "PBD7A", "peroxisome biogenesis disorder 7a (zellweger)", "peroxisome biogenesis disorder, complementation group 8", "peroxisome biogenesis disorder, complementation group a" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3539168, + UMLS:C3553950, + UMLS:C3888385 ; biolink:category biolink:Disease . OMIM:614875 a owl:Class ; @@ -330134,11 +343836,11 @@ OMIM:614875 a owl:Class ; PMID:15602086, PMID:22057234, PMID:22057236 ; - oboInOwl:hasDbXref UMLS:C3553958 ; oboInOwl:hasExactSynonym "metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria", "metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria", "metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria", "spondyloenchondromatosis with d-2-hydroxyglutaric aciduria" ; + skos:exactMatch UMLS:C3553958 ; biolink:category biolink:Disease . OMIM:614876 a owl:Class ; @@ -330146,14 +343848,14 @@ OMIM:614876 a owl:Class ; IAO:0000142 PMID:11890679, PMID:17055079, PMID:9837814 ; - oboInOwl:hasDbXref UMLS:C1863998, - UMLS:C1863999, - UMLS:C3553959 ; oboInOwl:hasExactSynonym "PBD8A", "peroxisome biogenesis disorder 8a (zellweger)", "peroxisome biogenesis disorder, complementation group 9", "peroxisome biogenesis disorder, complementation group d" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C1863998, + UMLS:C1863999, + UMLS:C3553959 ; biolink:category biolink:Disease . OMIM:614878 a owl:Class ; @@ -330162,11 +343864,11 @@ OMIM:614878 a owl:Class ; PMID:19531496, PMID:23000145, PMID:30619256 ; - oboInOwl:hasDbXref UMLS:C3553961, - ORPHA:324530 ; oboInOwl:hasExactSynonym "APLAID", "autoinflammation, antibody deficiency, and immune dysregulation", "autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated" ; + skos:exactMatch UMLS:C3553961, + ORPHA:324530 ; biolink:category biolink:Disease . OMIM:614879 a owl:Class ; @@ -330180,9 +343882,6 @@ OMIM:614879 a owl:Class ; PMID:7541833, PMID:8882397, PMID:8892018 ; - oboInOwl:hasDbXref UMLS:C1866351, - UMLS:C1866352, - UMLS:C2749346 ; oboInOwl:hasExactSynonym "PBD9B", "peroxisome biogenesis disorder 9b", "peroxisome biogenesis disorder, complementation group 11", @@ -330190,6 +343889,9 @@ OMIM:614879 a owl:Class ; "peroxisome biogenesis disorder, pex7-related, atypical", "refsum disease, adult, 2" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C1866351, + UMLS:C1866352, + UMLS:C2749346 ; biolink:category biolink:Disease . OMIM:614883 a owl:Class ; @@ -330197,14 +343899,14 @@ OMIM:614883 a owl:Class ; IAO:0000142 PMID:10332040, PMID:17055079, PMID:19449432 ; - oboInOwl:hasDbXref UMLS:C1866259, - UMLS:C1866260, - UMLS:C3554000 ; oboInOwl:hasExactSynonym "PBD11A", "peroxisome biogenesis disorder 11a (zellweger)", "peroxisome biogenesis disorder, complementation group 13", "peroxisome biogenesis disorder, complementation group h" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C1866259, + UMLS:C1866260, + UMLS:C3554000 ; biolink:category biolink:Disease . OMIM:614884 a owl:Class ; @@ -330212,13 +343914,14 @@ OMIM:614884 a owl:Class ; IAO:0000142 PMID:26157035 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:616948 ; - oboInOwl:hasDbXref UMLS:C2240169 ; oboInOwl:hasExactSynonym "VWA3B", "von willebrand factor a domain-containing protein 3b", "vwa domain-containing protein 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200403 ; - skos:exactMatch HGNC_symbol:VWA3B ; + skos:exactMatch UMLS:C2240169, + HGNC:28385, + HGNC_symbol:VWA3B ; biolink:category biolink:Gene . OMIM:614888 a owl:Class ; @@ -330229,13 +343932,14 @@ OMIM:614888 a owl:Class ; PMID:23064416 ; RO:0002525 CHR:9606chr15q23 ; RO:0003303 OMIM:148600 ; - oboInOwl:hasDbXref UMLS:C2828924 ; oboInOwl:hasExactSynonym "AAGAB", "alpha- and gamma-adaptin-binding protein", "p34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79719 ; - skos:exactMatch HGNC_symbol:AAGAB ; + skos:exactMatch UMLS:C2828924, + HGNC:25662, + HGNC_symbol:AAGAB ; biolink:category biolink:Gene . OMIM:614892 a owl:Class ; @@ -330244,25 +343948,25 @@ OMIM:614892 a owl:Class ; PMID:19084105, PMID:22573496, PMID:26513235 ; - oboInOwl:hasDbXref UMLS:C4013950 ; oboInOwl:hasExactSynonym "IMD31A", "immunodeficiency 31a", "immunodeficiency 31a, mycobacteriosis, autosomal dominant", "stat1 deficiency, autosomal dominant" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4013950 ; biolink:category biolink:Disease . OMIM:614893 a owl:Class ; rdfs:label "immunodeficiency 32a" ; IAO:0000142 PMID:17616516, PMID:21524210 ; - oboInOwl:hasDbXref UMLS:C3808589 ; oboInOwl:hasExactSynonym "IMD32A", "cd11c-positive/cd1c-positive dendritic cell deficiency, autosomal dominant", "immunodeficiency 32a", "immunodeficiency 32a, mycobacteriosis, autosomal dominant", "irf8 deficiency, autosomal dominant" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3808589 ; biolink:category biolink:Disease . OMIM:614894 a owl:Class ; @@ -330278,11 +343982,11 @@ OMIM:614895 a owl:Class ; PMID:16534116, PMID:21079185, PMID:22847150 ; - oboInOwl:hasDbXref UMLS:C3540453, - ORPHA:99952 ; oboInOwl:hasExactSynonym "CMT4F", "charcot-marie-tooth disease, demyelinating, iia 4f" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3540453, + ORPHA:99952 ; biolink:category biolink:Disease . OMIM:614901 a owl:Class ; @@ -330293,83 +343997,90 @@ OMIM:614901 a owl:Class ; PMID:9611264 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:614923 ; - oboInOwl:hasDbXref UMLS:C1538319 ; oboInOwl:hasExactSynonym "BCKDK", "bckd kinase", "bckdh kinase", "branched-chain alpha-keto acid dehydrogenase kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10295 ; - skos:exactMatch HGNC_symbol:BCKDK ; + skos:exactMatch UMLS:C1538319, + HGNC:16902, + HGNC_symbol:BCKDK ; biolink:category biolink:Gene . OMIM:614902 a owl:Class ; rdfs:label "ARHGAP33" ; IAO:0000142 PMID:12773384 ; - oboInOwl:hasDbXref UMLS:C1427903 ; oboInOwl:hasExactSynonym "ARHGAP33", "rho gtpase-activating protein 33", "tc10/cdc42 gtpase-activating protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115703 ; - skos:exactMatch HGNC_symbol:ARHGAP33 ; + skos:exactMatch UMLS:C1427903, + HGNC:23085, + HGNC_symbol:ARHGAP33 ; biolink:category biolink:Gene . OMIM:614903 a owl:Class ; rdfs:label "SNX16" ; IAO:0000142 PMID:12813048 ; - oboInOwl:hasDbXref UMLS:C1423107 ; oboInOwl:hasExactSynonym "SNX16", "sorting nexin 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64089 ; - skos:exactMatch HGNC_symbol:SNX16 ; + skos:exactMatch UMLS:C1423107, + HGNC:14980, + HGNC_symbol:SNX16 ; biolink:category biolink:Gene . OMIM:614904 a owl:Class ; rdfs:label "SNX7" ; IAO:0000142 PMID:11485546 ; - oboInOwl:hasDbXref UMLS:C1423098 ; oboInOwl:hasExactSynonym "SNX7", "sorting nexin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51375 ; - skos:exactMatch HGNC_symbol:SNX7 ; + skos:exactMatch UMLS:C1423098, + HGNC:14971, + HGNC_symbol:SNX7 ; biolink:category biolink:Gene . OMIM:614905 a owl:Class ; rdfs:label "SNX8" ; IAO:0000142 PMID:11485546, PMID:19782049 ; - oboInOwl:hasDbXref UMLS:C1423099 ; oboInOwl:hasExactSynonym "SNX8", "sorting nexin 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29886 ; - skos:exactMatch HGNC_symbol:SNX8 ; + skos:exactMatch UMLS:C1423099, + HGNC:14972, + HGNC_symbol:SNX8 ; biolink:category biolink:Gene . OMIM:614906 a owl:Class ; rdfs:label "SNX11" ; IAO:0000142 PMID:11485546 ; - oboInOwl:hasDbXref UMLS:C1423102 ; oboInOwl:hasExactSynonym "SNX11", "sorting nexin 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29916 ; - skos:exactMatch HGNC_symbol:SNX11 ; + skos:exactMatch UMLS:C1423102, + HGNC:14975, + HGNC_symbol:SNX11 ; biolink:category biolink:Gene . OMIM:614907 a owl:Class ; rdfs:label "PRPF39" ; IAO:0000142 PMID:22773733 ; - oboInOwl:hasDbXref UMLS:C1426852 ; oboInOwl:hasExactSynonym "PRPF39", "pre-mrna-processing factor 39", "precursor mrna-processing factor 39, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55015 ; - skos:exactMatch HGNC_symbol:PRPF39 ; + skos:exactMatch UMLS:C1426852, + HGNC:20314, + HGNC_symbol:PRPF39 ; biolink:category biolink:Gene . OMIM:614908 a owl:Class ; @@ -330378,93 +344089,100 @@ OMIM:614908 a owl:Class ; PMID:26545878 ; RO:0002525 CHR:9606chr11q14.2 ; RO:0003303 OMIM:616881 ; - oboInOwl:hasDbXref UMLS:C1824339 ; oboInOwl:hasExactSynonym "HIKESHI", "chromosome 11 open reading frame 73", "heat shock protein nuclear import factor hikeshi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51501 ; - skos:exactMatch HGNC_symbol:HIKESHI ; + skos:exactMatch UMLS:C1824339, + HGNC:26938, + HGNC_symbol:HIKESHI ; biolink:category biolink:Gene . OMIM:614909 a owl:Class ; rdfs:label "TMEM174" ; IAO:0000142 PMID:20331980 ; - oboInOwl:hasDbXref UMLS:C1823438 ; oboInOwl:hasExactSynonym "TMEM174", "transmembrane protein 174" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134288 ; - skos:exactMatch HGNC_symbol:TMEM174 ; + skos:exactMatch UMLS:C1823438, + HGNC:28187, + HGNC_symbol:TMEM174 ; biolink:category biolink:Gene . OMIM:614910 a owl:Class ; rdfs:label "C1QTNF6" ; - oboInOwl:hasDbXref UMLS:C1422580 ; oboInOwl:hasExactSynonym "C1QTNF6", "c1q- and tumor necrosis factor-related protein 6", "ctrp6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114904 ; - skos:exactMatch HGNC_symbol:C1QTNF6 ; + skos:exactMatch UMLS:C1422580, + HGNC:14343, + HGNC_symbol:C1QTNF6 ; biolink:category biolink:Gene . OMIM:614911 a owl:Class ; rdfs:label "C1QTNF4" ; IAO:0000142 PMID:21658842, PMID:24366864 ; - oboInOwl:hasDbXref UMLS:C1422582 ; oboInOwl:hasExactSynonym "C1QTNF4", "c1q- and tumor necrosis factor-related protein 4", "ctrp4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114900 ; - skos:exactMatch HGNC_symbol:C1QTNF4 ; + skos:exactMatch UMLS:C1422582, + HGNC:14346, + HGNC_symbol:C1QTNF4 ; biolink:category biolink:Gene . OMIM:614912 a owl:Class ; rdfs:label "TRABD2A" ; IAO:0000142 PMID:22726442 ; - oboInOwl:hasDbXref UMLS:C3543895 ; oboInOwl:hasExactSynonym "TRABD2A", "tiki1", "trab domain-containing protein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129293 ; - skos:exactMatch HGNC_symbol:TRABD2A ; + skos:exactMatch UMLS:C3543895, + HGNC:27013, + HGNC_symbol:TRABD2A ; biolink:category biolink:Gene . OMIM:614913 a owl:Class ; rdfs:label "TRABD2B" ; IAO:0000142 PMID:22726442 ; - oboInOwl:hasDbXref UMLS:C3543894 ; oboInOwl:hasExactSynonym "TRABD2B", "tiki2", "trab domain-containing protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388630 ; - skos:exactMatch HGNC_symbol:TRABD2B ; + skos:exactMatch UMLS:C3543894, + HGNC:44200, + HGNC_symbol:TRABD2B ; biolink:category biolink:Gene . OMIM:614914 a owl:Class ; rdfs:label "MIR298" ; IAO:0000142 PMID:22521303 ; - oboInOwl:hasDbXref UMLS:C2239691 ; oboInOwl:hasExactSynonym "MIR298", "micro RNA 298", "mirna298" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126296 ; - skos:exactMatch HGNC_symbol:MIR298 ; + skos:exactMatch UMLS:C2239691, + HGNC:33634, + HGNC_symbol:MIR298 ; biolink:category biolink:Gene . OMIM:614915 a owl:Class ; rdfs:label "lethal congenital contracture syndrome 4" ; IAO:0000142 PMID:22610851 ; - oboInOwl:hasDbXref UMLS:C3554046 ; oboInOwl:hasExactSynonym "LCCS4", "lethal congenital contracture syndrome 4" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C3554046 ; biolink:category biolink:Disease . OMIM:614917 a owl:Class ; @@ -330477,13 +344195,14 @@ OMIM:614917 a owl:Class ; PMID:26395190 ; RO:0002525 CHR:9606chr6q25.1 ; RO:0003303 OMIM:614922 ; - oboInOwl:hasDbXref UMLS:C1826833 ; oboInOwl:hasExactSynonym "RMND1", "required for meiotic nuclear division 1 homolog", "required for meiotic nuclear division 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55005 ; - skos:exactMatch HGNC_symbol:RMND1 ; + skos:exactMatch UMLS:C1826833, + HGNC:21176, + HGNC_symbol:RMND1 ; biolink:category biolink:Gene . OMIM:614918 a owl:Class ; @@ -330493,13 +344212,14 @@ OMIM:614918 a owl:Class ; PMID:30607703 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:619057 ; - oboInOwl:hasDbXref UMLS:C1826731, - UMLS:C5436703 ; oboInOwl:hasExactSynonym "PTCD3", "pentatricopeptide repeat domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55037 ; - skos:exactMatch HGNC_symbol:PTCD3 ; + skos:exactMatch UMLS:C1826731, + UMLS:C5436703, + HGNC:24717, + HGNC_symbol:PTCD3 ; biolink:category biolink:Gene . OMIM:614919 a owl:Class ; @@ -330507,13 +344227,14 @@ OMIM:614919 a owl:Class ; IAO:0000142 PMID:16380119, PMID:19103604, PMID:21118999 ; - oboInOwl:hasDbXref UMLS:C1428713 ; oboInOwl:hasExactSynonym "NOA1", "chromosome 4 open reading frame 14", "nitric oxide-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84273 ; - skos:exactMatch HGNC_symbol:NOA1 ; + skos:exactMatch UMLS:C1428713, + HGNC:28473, + HGNC_symbol:NOA1 ; biolink:category biolink:Gene . OMIM:614925 a owl:Class ; @@ -330521,13 +344242,14 @@ OMIM:614925 a owl:Class ; IAO:0000142 PMID:23122586 ; RO:0002525 CHR:9606chr12q21.31 ; RO:0003303 OMIM:614944 ; - oboInOwl:hasDbXref UMLS:C2240302 ; oboInOwl:hasExactSynonym "OTOGL", "chromosome 12 open reading frame 64", "otogelin-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283310 ; - skos:exactMatch HGNC_symbol:OTOGL ; + skos:exactMatch UMLS:C2240302, + HGNC:26901, + HGNC_symbol:OTOGL ; biolink:category biolink:Gene . OMIM:614929 a owl:Class ; @@ -330535,10 +344257,10 @@ OMIM:614929 a owl:Class ; IAO:0000142 PMID:17489990, PMID:20409997, PMID:24714551 ; - oboInOwl:hasDbXref UMLS:C3554117 ; oboInOwl:hasExactSynonym "ECTD7", "ectodermal dysplasia 7, hair/nail iia" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C3554117 ; biolink:category biolink:Disease . OMIM:614930 a owl:Class ; @@ -330551,13 +344273,14 @@ OMIM:614930 a owl:Class ; PMID:23891469 ; RO:0002525 CHR:9606chr8q24.22 ; RO:0003303 OMIM:614935 ; - oboInOwl:hasDbXref UMLS:C1537595 ; oboInOwl:hasExactSynonym "LRRC6", "leucine-rich repeat-containing protein 6", "leucine-rich testis protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23639 ; - skos:exactMatch HGNC_symbol:DNAAF11 ; + skos:exactMatch UMLS:C1537595, + HGNC:16725, + HGNC_symbol:DNAAF11 ; biolink:category biolink:Gene . OMIM:614932 a owl:Class ; @@ -330565,22 +344288,23 @@ OMIM:614932 a owl:Class ; IAO:0000142 PMID:23084291, PMID:25457163, PMID:30046113 ; - oboInOwl:hasDbXref UMLS:C3554129 ; oboInOwl:hasExactSynonym "COXPD13", "combined oxidative phosphorylation deficiency 13" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3554129 ; biolink:category biolink:Disease . OMIM:614933 a owl:Class ; rdfs:label "LINCMD1" ; IAO:0000142 PMID:12554859, PMID:22000014 ; - oboInOwl:hasDbXref UMLS:C3554140 ; oboInOwl:hasExactSynonym "LINCMD1", "long intergenic noncoding rna, muscle differentiation 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101154644 ; - skos:exactMatch HGNC_symbol:LINCMD1 ; + skos:exactMatch UMLS:C3554140, + HGNC:49089, + HGNC_symbol:LINCMD1 ; biolink:category biolink:Gene . OMIM:614938 a owl:Class ; @@ -330591,7 +344315,6 @@ OMIM:614938 a owl:Class ; PMID:22926522, PMID:22986343, PMID:8673135 ; - oboInOwl:hasDbXref UMLS:C2681113 ; oboInOwl:hasExactSynonym "VTRNA2-1", "cord blood lymphocyte-derived noncoding RNA 3", "noncoding RNA 886", @@ -330601,7 +344324,9 @@ OMIM:614938 a owl:Class ; "vtrna2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126299 ; - skos:exactMatch HGNC_symbol:VTRNA2-1 ; + skos:exactMatch UMLS:C2681113, + HGNC:37054, + HGNC_symbol:VTRNA2-1 ; biolink:category biolink:Gene . OMIM:614939 a owl:Class ; @@ -330610,12 +344335,13 @@ OMIM:614939 a owl:Class ; PMID:19590015, PMID:22265414, PMID:32144202 ; - oboInOwl:hasDbXref UMLS:C1826571 ; oboInOwl:hasExactSynonym "PGAM5", "phosphoglycerate mutase family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:192111 ; - skos:exactMatch HGNC_symbol:PGAM5 ; + skos:exactMatch UMLS:C1826571, + HGNC:28763, + HGNC_symbol:PGAM5 ; biolink:category biolink:Gene . OMIM:614940 a owl:Class ; @@ -330624,22 +344350,23 @@ OMIM:614940 a owl:Class ; PMID:20979233, PMID:21626677, PMID:26440664 ; - oboInOwl:hasDbXref UMLS:C3541517 ; oboInOwl:hasExactSynonym "ECTD11A", "ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant", "ectodermal dysplasia, hypohidrotic, autosomal dominant" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C3541517 ; biolink:category biolink:Disease . OMIM:614942 a owl:Class ; rdfs:label "PGS1" ; - oboInOwl:hasDbXref UMLS:C1826574 ; oboInOwl:hasExactSynonym "PGS1", "pgp synthase", "phosphatidylglycerophosphate synthase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9489 ; - skos:exactMatch HGNC_symbol:PGS1 ; + skos:exactMatch UMLS:C1826574, + HGNC:30029, + HGNC_symbol:PGS1 ; biolink:category biolink:Gene . OMIM:614943 a owl:Class ; @@ -330648,14 +344375,15 @@ OMIM:614943 a owl:Class ; PMID:15735003, PMID:23931759, PMID:26071602 ; - oboInOwl:hasDbXref UMLS:C1823486 ; oboInOwl:hasExactSynonym "TRIAP1", "hspc132", "p53-inducible cell survival factor", "tp53-regulated inhibitor of apoptosis 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51499 ; - skos:exactMatch HGNC_symbol:TRIAP1 ; + skos:exactMatch UMLS:C1823486, + HGNC:26937, + HGNC_symbol:TRIAP1 ; biolink:category biolink:Gene . OMIM:614946 a owl:Class ; @@ -330665,10 +344393,10 @@ OMIM:614946 a owl:Class ; PMID:24161539, PMID:27095821, PMID:29126765 ; - oboInOwl:hasDbXref UMLS:C3554168 ; oboInOwl:hasExactSynonym "COXPD14", "combined oxidative phosphorylation deficiency 14" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3554168 ; biolink:category biolink:Disease . OMIM:614947 a owl:Class ; @@ -330676,10 +344404,10 @@ OMIM:614947 a owl:Class ; IAO:0000142 PMID:21907147, PMID:23499752, PMID:24461907 ; - oboInOwl:hasDbXref UMLS:C3554182 ; oboInOwl:hasExactSynonym "COXPD15", "combined oxidative phosphorylation deficiency 15" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3554182 ; biolink:category biolink:Disease . OMIM:614948 a owl:Class ; @@ -330687,14 +344415,15 @@ OMIM:614948 a owl:Class ; IAO:0000142 PMID:16790493, PMID:16943180, PMID:19114592 ; - oboInOwl:hasDbXref UMLS:C3469951 ; oboInOwl:hasExactSynonym "TAMM41", "chromosome 3 open reading frame 31", "tam41", "translocator assembly and maintenance, mitochondrial, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132001 ; - skos:exactMatch HGNC_symbol:TAMM41 ; + skos:exactMatch UMLS:C3469951, + HGNC:25187, + HGNC_symbol:TAMM41 ; biolink:category biolink:Gene . OMIM:614949 a owl:Class ; @@ -330704,36 +344433,39 @@ OMIM:614949 a owl:Class ; PMID:23349226 ; RO:0002525 CHR:9606chr16q23.1 ; RO:0003303 OMIM:615397 ; - oboInOwl:hasDbXref UMLS:C2828877 ; oboInOwl:hasExactSynonym "TMEM231", "transmembrane protein 231" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79583 ; - skos:exactMatch HGNC_symbol:TMEM231 ; + skos:exactMatch UMLS:C2828877, + HGNC:37234, + HGNC_symbol:TMEM231 ; biolink:category biolink:Gene . OMIM:614950 a owl:Class ; rdfs:label "TMEM17" ; IAO:0000142 PMID:22179047 ; - oboInOwl:hasDbXref UMLS:C1428612 ; oboInOwl:hasExactSynonym "TMEM17", "transmembrane protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200728 ; - skos:exactMatch HGNC_symbol:TMEM17 ; + skos:exactMatch UMLS:C1428612, + HGNC:26623, + HGNC_symbol:TMEM17 ; biolink:category biolink:Gene . OMIM:614951 a owl:Class ; rdfs:label "HEATR3" ; IAO:0000142 PMID:23118189 ; - oboInOwl:hasDbXref UMLS:C1825455 ; oboInOwl:hasExactSynonym "HEATR3", "heat repeat-containing protein 3", "symportin", "synchronized import protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55027 ; - skos:exactMatch HGNC_symbol:HEATR3 ; + skos:exactMatch UMLS:C1825455, + HGNC:26087, + HGNC_symbol:HEATR3 ; biolink:category biolink:Gene . OMIM:614952 a owl:Class ; @@ -330743,12 +344475,13 @@ OMIM:614952 a owl:Class ; PMID:21249125, PMID:23000900, PMID:9846487 ; - oboInOwl:hasDbXref UMLS:C1822767 ; oboInOwl:hasExactSynonym "SLFN5", "schlafen family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162394 ; - skos:exactMatch HGNC_symbol:SLFN5 ; + skos:exactMatch UMLS:C1822767, + HGNC:28286, + HGNC_symbol:SLFN5 ; biolink:category biolink:Gene . OMIM:614953 a owl:Class ; @@ -330757,12 +344490,13 @@ OMIM:614953 a owl:Class ; PMID:19619625, PMID:21249125, PMID:23000900 ; - oboInOwl:hasDbXref UMLS:C1822768 ; oboInOwl:hasExactSynonym "SLFN11", "schlafen family, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91607 ; - skos:exactMatch HGNC_symbol:SLFN11 ; + skos:exactMatch UMLS:C1822768, + HGNC:26633, + HGNC_symbol:SLFN11 ; biolink:category biolink:Gene . OMIM:614955 a owl:Class ; @@ -330774,12 +344508,13 @@ OMIM:614955 a owl:Class ; PMID:21249125, PMID:23000900, PMID:9846487 ; - oboInOwl:hasDbXref UMLS:C1822769 ; oboInOwl:hasExactSynonym "SLFN12", "schlafen family, member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55106 ; - skos:exactMatch HGNC_symbol:SLFN12 ; + skos:exactMatch UMLS:C1822769, + HGNC:25500, + HGNC_symbol:SLFN12 ; biolink:category biolink:Gene . OMIM:614956 a owl:Class ; @@ -330791,13 +344526,14 @@ OMIM:614956 a owl:Class ; PMID:21249125, PMID:23000900, PMID:9846487 ; - oboInOwl:hasDbXref UMLS:C2239936 ; oboInOwl:hasExactSynonym "SLFN12L", "schlafen family, member 12-like", "slfn12-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506736 ; - skos:exactMatch HGNC_symbol:SLFN12L ; + skos:exactMatch UMLS:C2239936, + HGNC:33920, + HGNC_symbol:SLFN12L ; biolink:category biolink:Gene . OMIM:614957 a owl:Class ; @@ -330806,12 +344542,13 @@ OMIM:614957 a owl:Class ; PMID:19619625, PMID:21249125, PMID:23000900 ; - oboInOwl:hasDbXref UMLS:C1822770 ; oboInOwl:hasExactSynonym "SLFN13", "schlafen family, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146857 ; - skos:exactMatch HGNC_symbol:SLFN13 ; + skos:exactMatch UMLS:C1822770, + HGNC:26481, + HGNC_symbol:SLFN13 ; biolink:category biolink:Gene . OMIM:614958 a owl:Class ; @@ -330824,12 +344561,13 @@ OMIM:614958 a owl:Class ; PMID:26769223 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:616913 ; - oboInOwl:hasDbXref UMLS:C1822771 ; oboInOwl:hasExactSynonym "SLFN14", "schlafen family, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342618 ; - skos:exactMatch HGNC_symbol:SLFN14 ; + skos:exactMatch UMLS:C1822771, + HGNC:32689, + HGNC_symbol:SLFN14 ; biolink:category biolink:Gene . OMIM:614959 a owl:Class ; @@ -330841,12 +344579,12 @@ OMIM:614959 a owl:Class ; PMID:24029078, PMID:24120652, PMID:7555952 ; - oboInOwl:hasDbXref UMLS:C3554195, - ORPHA:293181 ; oboInOwl:hasExactSynonym "DEE14", "developmental and epileptic encephalopathy 14", "epileptic encephalopathy, early infantile, 14" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3554195, + ORPHA:293181 ; biolink:category biolink:Disease . OMIM:614960 a owl:Class ; @@ -330855,65 +344593,70 @@ OMIM:614960 a owl:Class ; PMID:21397848, PMID:23064227, PMID:23064230 ; - oboInOwl:hasDbXref UMLS:C2678560 ; oboInOwl:hasExactSynonym "PLD6", "mitochondrial phospholipase", "phospholipase d family, member 6", "zucchini, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201164 ; - skos:exactMatch HGNC_symbol:PLD6 ; + skos:exactMatch UMLS:C2678560, + HGNC:30447, + HGNC_symbol:PLD6 ; biolink:category biolink:Gene . OMIM:614964 a owl:Class ; rdfs:label "ELFN1" ; IAO:0000142 PMID:19389623, PMID:23042292 ; - oboInOwl:hasDbXref UMLS:C2239386 ; oboInOwl:hasExactSynonym "ELFN1", "extracellular leucine-rich repeat and fibronectin iia 3 domain-containing protein 1", "protein phosphatase 1, regulatory subunit 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:392617 ; - skos:exactMatch HGNC_symbol:ELFN1 ; + skos:exactMatch UMLS:C2239386, + HGNC:33154, + HGNC_symbol:ELFN1 ; biolink:category biolink:Gene . OMIM:614965 a owl:Class ; rdfs:label "SCRN1" ; IAO:0000142 PMID:12221138, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C1427758 ; oboInOwl:hasExactSynonym "SCRN1", "kiaa0193", "secernin 1", "ses1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9805 ; - skos:exactMatch HGNC_symbol:SCRN1 ; + skos:exactMatch UMLS:C1427758, + HGNC:22192, + HGNC_symbol:SCRN1 ; biolink:category biolink:Gene . OMIM:614966 a owl:Class ; rdfs:label "SCRN2" ; IAO:0000142 PMID:12221138 ; - oboInOwl:hasDbXref UMLS:C1428971 ; oboInOwl:hasExactSynonym "SCRN2", "secernin 2", "ses2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90507 ; - skos:exactMatch HGNC_symbol:SCRN2 ; + skos:exactMatch UMLS:C1428971, + HGNC:30381, + HGNC_symbol:SCRN2 ; biolink:category biolink:Gene . OMIM:614967 a owl:Class ; rdfs:label "SCRN3" ; IAO:0000142 PMID:12221138 ; - oboInOwl:hasDbXref UMLS:C1428972 ; oboInOwl:hasExactSynonym "SCRN3", "secernin 3", "ses3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79634 ; - skos:exactMatch HGNC_symbol:SCRN3 ; + skos:exactMatch UMLS:C1428972, + HGNC:30382, + HGNC_symbol:SCRN3 ; biolink:category biolink:Gene . OMIM:614968 a owl:Class ; @@ -330921,36 +344664,38 @@ OMIM:614968 a owl:Class ; IAO:0000142 PMID:12476414, PMID:18641339, PMID:19712589 ; - oboInOwl:hasDbXref UMLS:C1539763 ; oboInOwl:hasExactSynonym "SH2D4A", "protein phosphatase 1, regulatory subunit 38", "sh2 domain-containing protein 4a", "sh2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63898 ; - skos:exactMatch HGNC_symbol:SH2D4A ; + skos:exactMatch UMLS:C1539763, + HGNC:26102, + HGNC_symbol:SH2D4A ; biolink:category biolink:Gene . OMIM:614970 a owl:Class ; rdfs:label "joubert syndrome 20" ; IAO:0000142 PMID:22179047, PMID:23012439 ; - oboInOwl:hasDbXref UMLS:C3554235 ; oboInOwl:hasExactSynonym "JBTS20", "joubert syndrome 20" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C3554235 ; biolink:category biolink:Disease . OMIM:614971 a owl:Class ; rdfs:label "TUG1" ; IAO:0000142 PMID:15797018, PMID:19571010 ; - oboInOwl:hasDbXref UMLS:C2681088 ; oboInOwl:hasExactSynonym "TUG1", "taurine-upregulated gene 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55000 ; - skos:exactMatch HGNC_symbol:TUG1 ; + skos:exactMatch UMLS:C2681088, + HGNC:26066, + HGNC_symbol:TUG1 ; biolink:category biolink:Gene . OMIM:614972 a owl:Class ; @@ -330962,9 +344707,9 @@ OMIM:614972 a owl:Class ; PMID:21989363, PMID:9419367, PMID:9923886 ; - oboInOwl:hasDbXref UMLS:C3554241 ; oboInOwl:hasExactSynonym "ICP3", "cholestasis, intrahepatic, of pregnancy 3" ; + skos:exactMatch UMLS:C3554241 ; biolink:category biolink:Disease . OMIM:614973 a owl:Class ; @@ -330977,18 +344722,17 @@ OMIM:614973 a owl:Class ; PMID:23161670, PMID:7645599, PMID:8204474 ; - oboInOwl:hasDbXref UMLS:C3554245 ; oboInOwl:hasExactSynonym "FFDD2", "brauer-setleis syndrome", "focal facial dermal dysplasia 2, brauer-setleis iia" ; rdfs:subClassOf OMIMPS:136500 ; + skos:exactMatch UMLS:C3554245 ; biolink:category biolink:Disease . OMIM:614975 a owl:Class ; rdfs:label "FENDRR" ; IAO:0000142 PMID:19571010, PMID:23034409 ; - oboInOwl:hasDbXref UMLS:C3540317 ; oboInOwl:hasExactSynonym "FENDRR", "foxf1 adjacent noncoding developmental regulatory RNA", "foxf1 antisense RNA 1, noncoding", @@ -330998,14 +344742,15 @@ OMIM:614975 a owl:Class ; "tcons_00024240" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400550 ; - skos:exactMatch HGNC_symbol:FENDRR ; + skos:exactMatch UMLS:C3540317, + HGNC:43894, + HGNC_symbol:FENDRR ; biolink:category biolink:Gene . OMIM:614977 a owl:Class ; rdfs:label "LINC01081" ; IAO:0000142 PMID:23034409, PMID:24842713 ; - oboInOwl:hasDbXref UMLS:C3554276 ; oboInOwl:hasExactSynonym "LINC01081", "lncrna tcons_00024764", "long intergenic noncoding RNA 1081", @@ -331013,14 +344758,15 @@ OMIM:614977 a owl:Class ; "tcons_00024764" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101154687 ; - skos:exactMatch HGNC_symbol:LINC01081 ; + skos:exactMatch UMLS:C3554276, + HGNC:49124, + HGNC_symbol:LINC01081 ; biolink:category biolink:Gene . OMIM:614978 a owl:Class ; rdfs:label "LINC01082" ; IAO:0000142 PMID:23034409, PMID:24842713 ; - oboInOwl:hasDbXref UMLS:C3554277 ; oboInOwl:hasExactSynonym "LINC01082", "lncrna tcons_00024492", "long intergenic noncoding RNA 1082", @@ -331028,7 +344774,9 @@ OMIM:614978 a owl:Class ; "tcons_00024492" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506542 ; - skos:exactMatch HGNC_symbol:LINC01082 ; + skos:exactMatch UMLS:C3554277, + HGNC:49125, + HGNC_symbol:LINC01082 ; biolink:category biolink:Gene . OMIM:614981 a owl:Class ; @@ -331039,13 +344787,14 @@ OMIM:614981 a owl:Class ; PMID:20538613, PMID:22342343, PMID:23135403 ; - oboInOwl:hasDbXref UMLS:C1412690 ; oboInOwl:hasExactSynonym "ATPIF1", "atpase inhibitory factor 1", "if1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93974 ; - skos:exactMatch HGNC_symbol:ATP5IF1 ; + skos:exactMatch UMLS:C1412690, + HGNC:871, + HGNC_symbol:ATP5IF1 ; biolink:category biolink:Gene . OMIM:614982 a owl:Class ; @@ -331074,14 +344823,15 @@ OMIM:614982 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr18p11.32 ; RO:0003303 OMIM:158901 ; - oboInOwl:hasDbXref UMLS:C1539789 ; oboInOwl:hasExactSynonym "SMCHD1", "kiaa0650", "smc hinge domain-containing protein 1", "structural maintenance of chromosomes flexible hinge domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23347 ; - skos:exactMatch HGNC_symbol:SMCHD1 ; + skos:exactMatch UMLS:C1539789, + HGNC:29090, + HGNC_symbol:SMCHD1 ; biolink:category biolink:Gene . OMIM:614983 a owl:Class ; @@ -331090,14 +344840,15 @@ OMIM:614983 a owl:Class ; PMID:20531301, PMID:21892628, PMID:22992524 ; - oboInOwl:hasDbXref UMLS:C1826412 ; oboInOwl:hasExactSynonym "BATF2", "basic leucine zipper transcription factor, atf-like 2", "suppressor of activator protein 1, regulated by interferon", "suppressor of ap1, regulated by ifn" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116071 ; - skos:exactMatch HGNC_symbol:BATF2 ; + skos:exactMatch UMLS:C1826412, + HGNC:25163, + HGNC_symbol:BATF2 ; biolink:category biolink:Gene . OMIM:614984 a owl:Class ; @@ -331109,19 +344860,19 @@ OMIM:614984 a owl:Class ; PMID:29661920 ; RO:0002525 CHR:9606chr10p14 ; RO:0003303 OMIM:204750 ; - oboInOwl:hasDbXref UMLS:C1428130 ; oboInOwl:hasExactSynonym "DHTKD1", "dehydrogenase e1 and transketolase domains-containing protein 1", "kiaa1630" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55526 ; - skos:exactMatch HGNC_symbol:DHTKD1 ; + skos:exactMatch UMLS:C1428130, + HGNC:23537, + HGNC_symbol:DHTKD1 ; biolink:category biolink:Gene . OMIM:614985 a owl:Class ; rdfs:label "HELLPAR" ; IAO:0000142 PMID:23093777 ; - oboInOwl:hasDbXref UMLS:C3542728 ; oboInOwl:hasExactSynonym "HELLPAR", "hellp syndrome-associated long intergenic noncoding RNA", "hellp syndrome-associated long noncoding RNA", @@ -331129,33 +344880,37 @@ OMIM:614985 a owl:Class ; "lncrna hellp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101101692 ; - skos:exactMatch HGNC_symbol:HELLPAR ; + skos:exactMatch UMLS:C3542728, + HGNC:43984, + HGNC_symbol:HELLPAR ; biolink:category biolink:Gene . OMIM:614986 a owl:Class ; rdfs:label "CAMK2N1" ; IAO:0000142 PMID:18305109 ; - oboInOwl:hasDbXref UMLS:C1824522 ; oboInOwl:hasExactSynonym "CAMK2N1", "calcium/calmodulin-dependent protein kinase 2 inhibitor 1", "camkii inhibitory protein, alpha", "camkiin-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55450 ; - skos:exactMatch HGNC_symbol:CAMK2N1 ; + skos:exactMatch UMLS:C1824522, + HGNC:24190, + HGNC_symbol:CAMK2N1 ; biolink:category biolink:Gene . OMIM:614987 a owl:Class ; rdfs:label "EPS8L1" ; IAO:0000142 PMID:12620401, PMID:14565974 ; - oboInOwl:hasDbXref UMLS:C1333347 ; oboInOwl:hasExactSynonym "EPS8L1", "eps8-like protein 1", "eps8-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54869 ; - skos:exactMatch HGNC_symbol:EPS8L1 ; + skos:exactMatch UMLS:C1333347, + HGNC:21295, + HGNC_symbol:EPS8L1 ; biolink:category biolink:Gene . OMIM:614988 a owl:Class ; @@ -331167,13 +344922,14 @@ OMIM:614988 a owl:Class ; PMID:28281779 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:617637 ; - oboInOwl:hasDbXref UMLS:C3541520 ; oboInOwl:hasExactSynonym "EPS8L2", "eps8-like protein 2", "eps8-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64787 ; - skos:exactMatch HGNC_symbol:EPS8L2 ; + skos:exactMatch UMLS:C3541520, + HGNC:21296, + HGNC_symbol:EPS8L2 ; biolink:category biolink:Gene . OMIM:614989 a owl:Class ; @@ -331184,56 +344940,58 @@ OMIM:614989 a owl:Class ; PMID:23099647 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:612841 ; - oboInOwl:hasDbXref UMLS:C1333349, - UMLS:C2748535 ; oboInOwl:hasExactSynonym "EPS8L3", "eps8-like protein 3", "eps8-related protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79574 ; - skos:exactMatch HGNC_symbol:EPS8L3 ; + skos:exactMatch UMLS:C1333349, + UMLS:C2748535, + HGNC:21297, + HGNC_symbol:EPS8L3 ; biolink:category biolink:Gene . OMIM:614991 a owl:Class ; rdfs:label "UCH1LAS" ; IAO:0000142 PMID:23064229 ; - oboInOwl:hasDbXref UMLS:C3554292 ; oboInOwl:hasExactSynonym "UCH1LAS", "ubiquitin carboxyl-terminal esterase l1, antisense", "uch1l, antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101180899 ; + skos:exactMatch UMLS:C3554292 ; biolink:category biolink:Gene . OMIM:614992 a owl:Class ; rdfs:label "LINC00237" ; IAO:0000142 PMID:23034868 ; - oboInOwl:hasDbXref UMLS:C3470613 ; oboInOwl:hasExactSynonym "LINC00237", "lincrna 237", "long intergenic noncoding RNA 237" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105372556 ; - skos:exactMatch HGNC_symbol:LINC00237 ; + skos:exactMatch UMLS:C3470613, + HGNC:38166, + HGNC_symbol:LINC00237 ; biolink:category biolink:Gene . OMIM:614993 a owl:Class ; rdfs:label "CAMKV" ; IAO:0000142 PMID:8283228 ; - oboInOwl:hasDbXref UMLS:C1538434 ; oboInOwl:hasExactSynonym "1g5", "CAMKV", "cam kinase-like vesicle-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79012 ; - skos:exactMatch HGNC_symbol:CAMKV ; + skos:exactMatch UMLS:C1538434, + HGNC:28788, + HGNC_symbol:CAMKV ; biolink:category biolink:Gene . OMIM:614994 a owl:Class ; rdfs:label "CAMK1G" ; IAO:0000142 PMID:10645953, PMID:12637513 ; - oboInOwl:hasDbXref UMLS:C1422774 ; oboInOwl:hasExactSynonym "CAMK1G", "calcium/calmodulin-dependent protein kinase 1g", "calcium/calmodulin-dependent protein kinase i-gamma", @@ -331241,7 +344999,9 @@ OMIM:614994 a owl:Class ; "camki-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57172 ; - skos:exactMatch HGNC_symbol:CAMK1G ; + skos:exactMatch UMLS:C1422774, + HGNC:14585, + HGNC_symbol:CAMK1G ; biolink:category biolink:Gene . OMIM:614995 a owl:Class ; @@ -331249,36 +345009,38 @@ OMIM:614995 a owl:Class ; IAO:0000142 PMID:21982598, PMID:21993849, PMID:25849644 ; - oboInOwl:hasDbXref UMLS:C1425516 ; oboInOwl:hasExactSynonym "IL17RE", "interleukin 17 receptor e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132014 ; - skos:exactMatch HGNC_symbol:IL17RE ; + skos:exactMatch UMLS:C1425516, + HGNC:18439, + HGNC_symbol:IL17RE ; biolink:category biolink:Gene . OMIM:614996 a owl:Class ; rdfs:label "MSE" ; IAO:0000142 PMID:11782409, PMID:22522483 ; - oboInOwl:hasDbXref UMLS:C3537320 ; oboInOwl:hasExactSynonym "MSE", "myelinating schwann cell element" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101180900 ; + skos:exactMatch UMLS:C3537320 ; biolink:category biolink:Gene . OMIM:614997 a owl:Class ; rdfs:label "GATAD2A" ; IAO:0000142 PMID:12183469, PMID:16415179 ; - oboInOwl:hasDbXref UMLS:C1539552 ; oboInOwl:hasExactSynonym "GATAD2A", "gata zinc finger domain-containing protein 2a", "p66-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54815 ; - skos:exactMatch HGNC_symbol:GATAD2A ; + skos:exactMatch UMLS:C1539552, + HGNC:29989, + HGNC_symbol:GATAD2A ; biolink:category biolink:Gene . OMIM:614998 a owl:Class ; @@ -331295,8 +345057,6 @@ OMIM:614998 a owl:Class ; PMID:31949314 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:615074 ; - oboInOwl:hasDbXref UMLS:C1539553, - UMLS:C3554448 ; oboInOwl:hasExactSynonym "GATAD2B", "gata zinc finger domain-containing protein 2b", "kiaa1150", @@ -331305,19 +345065,23 @@ OMIM:614998 a owl:Class ; "p68" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57459 ; - skos:exactMatch HGNC_symbol:GATAD2B ; + skos:exactMatch UMLS:C1539553, + UMLS:C3554448, + HGNC:30778, + HGNC_symbol:GATAD2B ; biolink:category biolink:Gene . OMIM:614999 a owl:Class ; rdfs:label "CYP4X1" ; IAO:0000142 PMID:12176035 ; - oboInOwl:hasDbXref UMLS:C1539213 ; oboInOwl:hasExactSynonym "CYP4X1", "cypivx1", "cytochrome p450, family 4, subfamily x, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:260293 ; - skos:exactMatch HGNC_symbol:CYP4X1 ; + skos:exactMatch UMLS:C1539213, + HGNC:20244, + HGNC_symbol:CYP4X1 ; biolink:category biolink:Gene . OMIM:615000 a owl:Class ; @@ -331326,25 +345090,27 @@ OMIM:615000 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr14q32.31 ; RO:0003303 OMIM:615031 ; - oboInOwl:hasDbXref UMLS:C2680469 ; oboInOwl:hasExactSynonym "TECPR2", "kiaa0329", "tectonin beta-propeller repeat-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9895 ; - skos:exactMatch HGNC_symbol:TECPR2 ; + skos:exactMatch UMLS:C2680469, + HGNC:19957, + HGNC_symbol:TECPR2 ; biolink:category biolink:Gene . OMIM:615001 a owl:Class ; rdfs:label "ZC3H12C" ; IAO:0000142 PMID:18178554 ; - oboInOwl:hasDbXref UMLS:C1823926 ; oboInOwl:hasExactSynonym "ZC3H12C", "mcp1-induced protein 3", "zinc finger ccch domain-containing protein 12c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85463 ; - skos:exactMatch HGNC_symbol:ZC3H12C ; + skos:exactMatch UMLS:C1823926, + HGNC:29362, + HGNC_symbol:ZC3H12C ; biolink:category biolink:Gene . OMIM:615002 a owl:Class ; @@ -331355,14 +345121,15 @@ OMIM:615002 a owl:Class ; PMID:9662074, PMID:9822657, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1413105 ; oboInOwl:hasExactSynonym "CAMKK2", "calcium/calmodulin-dependent protein kinase kinase 2, beta", "camkk-beta", "kiaa0787" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10645 ; - skos:exactMatch HGNC_symbol:CAMKK2 ; + skos:exactMatch UMLS:C1413105, + HGNC:1470, + HGNC_symbol:CAMKK2 ; biolink:category biolink:Gene . OMIM:615003 a owl:Class ; @@ -331377,13 +345144,14 @@ OMIM:615003 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr8p11.23 ; RO:0003303 OMIM:615033 ; - oboInOwl:hasDbXref UMLS:C1428790 ; oboInOwl:hasExactSynonym "DDHD2", "ddhd domain-containing protein 2", "kiaa0725" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23259 ; - skos:exactMatch HGNC_symbol:DDHD2 ; + skos:exactMatch UMLS:C1428790, + HGNC:29106, + HGNC_symbol:DDHD2 ; biolink:category biolink:Gene . OMIM:615004 a owl:Class ; @@ -331394,13 +345162,14 @@ OMIM:615004 a owl:Class ; PMID:25997951 ; RO:0002525 CHR:9606chr4q25 ; RO:0003303 OMIM:615058 ; - oboInOwl:hasDbXref UMLS:C2239655 ; oboInOwl:hasExactSynonym "LRIT3", "figler4", "leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345193 ; - skos:exactMatch HGNC_symbol:LRIT3 ; + skos:exactMatch UMLS:C2239655, + HGNC:24783, + HGNC_symbol:LRIT3 ; biolink:category biolink:Gene . OMIM:615006 a owl:Class ; @@ -331408,22 +345177,22 @@ OMIM:615006 a owl:Class ; IAO:0000142 PMID:21907012, PMID:23252400, PMID:31584066 ; - oboInOwl:hasDbXref UMLS:C3554316, - ORPHA:3451 ; oboInOwl:hasExactSynonym "DEE15", "developmental and epileptic encephalopathy 15", "epileptic encephalopathy, early infantile, 15" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3554316, + ORPHA:3451 ; biolink:category biolink:Disease . OMIM:615007 a owl:Class ; rdfs:label "basal ganglia calcification, idiopathic, 4" ; IAO:0000142 PMID:19506901, PMID:23255827 ; - oboInOwl:hasDbXref UMLS:C3554321 ; oboInOwl:hasExactSynonym "IBGC4", "basal ganglia calcification, idiopathic, 4" ; rdfs:subClassOf OMIMPS:213600 ; + skos:exactMatch UMLS:C3554321 ; biolink:category biolink:Disease . OMIM:615010 a owl:Class ; @@ -331431,16 +345200,15 @@ OMIM:615010 a owl:Class ; IAO:0000142 PMID:23001123, PMID:24262145, PMID:25243380 ; - oboInOwl:hasDbXref UMLS:C3539013 ; oboInOwl:hasExactSynonym "AGS6", "aicardi-goutieres syndrome 6" ; rdfs:subClassOf OMIMPS:225750 ; + skos:exactMatch UMLS:C3539013 ; biolink:category biolink:Disease . OMIM:615012 a owl:Class ; rdfs:label "HIST1H2AG" ; IAO:0000142 PMID:12408966 ; - oboInOwl:hasDbXref UMLS:C1415404 ; oboInOwl:hasExactSynonym "HIST1H2AG", "h2a histone family, member p", "h2a/p", @@ -331449,13 +345217,14 @@ OMIM:615012 a owl:Class ; "histone gene cluster 1, h2ag" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8969 ; - skos:exactMatch HGNC_symbol:H2AC11 ; + skos:exactMatch UMLS:C1415404, + HGNC:4737, + HGNC_symbol:H2AC11 ; biolink:category biolink:Gene . OMIM:615013 a owl:Class ; rdfs:label "HIST1H2AH" ; IAO:0000142 PMID:12408966 ; - oboInOwl:hasDbXref UMLS:C1422138 ; oboInOwl:hasExactSynonym "HIST1H2AH", "h2a/s", "hist1 cluster, h2ah", @@ -331463,33 +345232,37 @@ OMIM:615013 a owl:Class ; "histone gene cluster 1, h2ah" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85235 ; - skos:exactMatch HGNC_symbol:H2AC12 ; + skos:exactMatch UMLS:C1422138, + HGNC:13671, + HGNC_symbol:H2AC12 ; biolink:category biolink:Gene . OMIM:615014 a owl:Class ; rdfs:label "HIST2H2AB" ; IAO:0000142 PMID:12408966 ; - oboInOwl:hasDbXref UMLS:C1426979 ; oboInOwl:hasExactSynonym "HIST2H2AB", "hist2 cluster, h2ab", "histone gene cluster 2, h2a histone family, member B", "histone gene cluster 2, h2ab" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:317772 ; - skos:exactMatch HGNC_symbol:H2AC21 ; + skos:exactMatch UMLS:C1426979, + HGNC:20508, + HGNC_symbol:H2AC21 ; biolink:category biolink:Gene . OMIM:615015 a owl:Class ; rdfs:label "HIST3H2A" ; IAO:0000142 PMID:12408966 ; - oboInOwl:hasDbXref UMLS:C1426978 ; oboInOwl:hasExactSynonym "HIST3H2A", "hist3 cluster, h2a", "histone gene cluster 3, h2a", "histone gene cluster 3, h2a histone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92815 ; - skos:exactMatch HGNC_symbol:H2AW ; + skos:exactMatch UMLS:C1426978, + HGNC:20507, + HGNC_symbol:H2AW ; biolink:category biolink:Gene . OMIM:615016 a owl:Class ; @@ -331497,18 +345270,18 @@ OMIM:615016 a owl:Class ; IAO:0000142 PMID:22714804 ; RO:0002525 CHR:9606chr6p22.1 ; RO:0003303 OMIM:615082 ; - oboInOwl:hasDbXref UMLS:C1418036 ; oboInOwl:hasExactSynonym "OR2J3", "olfactory receptor, family 2, subfamily j, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442186 ; - skos:exactMatch HGNC_symbol:OR2J3 ; + skos:exactMatch UMLS:C1418036, + HGNC:8261, + HGNC_symbol:OR2J3 ; biolink:category biolink:Gene . OMIM:615017 a owl:Class ; rdfs:label "MIR139" ; IAO:0000142 PMID:22580051 ; - oboInOwl:hasDbXref UMLS:C1537793 ; oboInOwl:hasExactSynonym "MIR139", "micro RNA 139", "micro RNA 139-3p", @@ -331516,96 +345289,104 @@ OMIM:615017 a owl:Class ; "mirna139" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406931 ; - skos:exactMatch HGNC_symbol:MIR139 ; + skos:exactMatch UMLS:C1537793, + HGNC:31526, + HGNC_symbol:MIR139 ; biolink:category biolink:Gene . OMIM:615019 a owl:Class ; rdfs:label "ELP5" ; IAO:0000142 PMID:16850183, PMID:22854966 ; - oboInOwl:hasDbXref UMLS:C1824473 ; oboInOwl:hasExactSynonym "ELP5", "chromosome 17 open reading frame 81", "dermal papilla-derived protein 6", "elongator acetyltransferase complex, subunit 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23587 ; - skos:exactMatch HGNC_symbol:ELP5 ; + skos:exactMatch UMLS:C1824473, + HGNC:30617, + HGNC_symbol:ELP5 ; biolink:category biolink:Gene . OMIM:615020 a owl:Class ; rdfs:label "ELP6" ; IAO:0000142 PMID:22854966 ; - oboInOwl:hasDbXref UMLS:C1823363 ; oboInOwl:hasExactSynonym "ELP6", "chromosome 3 open reading frame 75", "elongator acetyltransferase complex, subunit 6", "transmembrane protein 103" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54859 ; - skos:exactMatch HGNC_symbol:ELP6 ; + skos:exactMatch UMLS:C1823363, + HGNC:25976, + HGNC_symbol:ELP6 ; biolink:category biolink:Gene . OMIM:615025 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2q" ; IAO:0000142 PMID:23141294, PMID:29661920 ; - oboInOwl:hasDbXref UMLS:C3554366 ; oboInOwl:hasExactSynonym "CMT2Q", "charcot-marie-tooth disease, axonal, iia 2q", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2q", "charcot-marie-tooth neuropathy, iia 2q" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3554366 ; biolink:category biolink:Disease . OMIM:615027 a owl:Class ; rdfs:label "SINHCAF" ; IAO:0000142 PMID:22865885, PMID:22984288 ; - oboInOwl:hasDbXref UMLS:C1539467 ; oboInOwl:hasExactSynonym "SINHCAF", "family with sequence similarity 60, member a", "sin3-hdac complex associated factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58516 ; - skos:exactMatch HGNC_symbol:SINHCAF ; + skos:exactMatch UMLS:C1539467, + HGNC:30702, + HGNC_symbol:SINHCAF ; biolink:category biolink:Gene . OMIM:615029 a owl:Class ; rdfs:label "CBLN4" ; IAO:0000142 PMID:17331201, PMID:22220752 ; - oboInOwl:hasDbXref UMLS:C1539064 ; oboInOwl:hasExactSynonym "CBLN4", "precerebellin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140689 ; - skos:exactMatch HGNC_symbol:CBLN4 ; + skos:exactMatch UMLS:C1539064, + HGNC:16231, + HGNC_symbol:CBLN4 ; biolink:category biolink:Gene . OMIM:615036 a owl:Class ; rdfs:label "MIR410" ; IAO:0000142 PMID:21970883, PMID:23246289 ; - oboInOwl:hasDbXref UMLS:C1826018 ; oboInOwl:hasExactSynonym "MIR410", "micro RNA 410", "mirna410" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574434 ; - skos:exactMatch HGNC_symbol:MIR410 ; + skos:exactMatch UMLS:C1826018, + HGNC:32065, + HGNC_symbol:MIR410 ; biolink:category biolink:Gene . OMIM:615037 a owl:Class ; rdfs:label "MIR487B" ; IAO:0000142 PMID:21970883 ; - oboInOwl:hasDbXref UMLS:C1826041 ; oboInOwl:hasExactSynonym "MIR487B", "micro RNA 487b", "mirna487b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:664616 ; - skos:exactMatch HGNC_symbol:MIR487B ; + skos:exactMatch UMLS:C1826041, + HGNC:32533, + HGNC_symbol:MIR487B ; biolink:category biolink:Gene . OMIM:615038 a owl:Class ; @@ -331614,75 +345395,80 @@ OMIM:615038 a owl:Class ; PMID:23261303 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:615067 ; - oboInOwl:hasDbXref UMLS:C1824643 ; oboInOwl:hasExactSynonym "ODAD1", "coiled-coil domain-containing protein 114: ccdc114", "outer dynein arm docking complex subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93233 ; - skos:exactMatch HGNC_symbol:ODAD1 ; + skos:exactMatch UMLS:C1824643, + HGNC:26560, + HGNC_symbol:ODAD1 ; biolink:category biolink:Gene . OMIM:615039 a owl:Class ; rdfs:label "NDST4" ; IAO:0000142 PMID:11087757 ; - oboInOwl:hasDbXref UMLS:C1427123 ; oboInOwl:hasExactSynonym "NDST4", "heparan glucosaminyl n-deacetylase/n-sulfotransferase 4", "heparan sulfate n-deacetylase/n-sulfotransferase 4", "n-deacetylase/n-sulfotransferase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64579 ; - skos:exactMatch HGNC_symbol:NDST4 ; + skos:exactMatch UMLS:C1427123, + HGNC:20779, + HGNC_symbol:NDST4 ; biolink:category biolink:Gene . OMIM:615043 a owl:Class ; rdfs:label "spastic paraplegia 43, autosomal recessive" ; IAO:0000142 PMID:20039086, PMID:23857908 ; - oboInOwl:hasDbXref UMLS:C2680446 ; oboInOwl:hasExactSynonym "SPG43", "spastic paraplegia 43, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2680446 ; biolink:category biolink:Disease . OMIM:615044 a owl:Class ; rdfs:label "HIST1H2BJ" ; IAO:0000142 PMID:12408966 ; - oboInOwl:hasDbXref UMLS:C1415425 ; oboInOwl:hasExactSynonym "HIST1H2BJ", "hist1 cluster, h2bj", "histone gene cluster 1, h2b histone family, member j", "histone gene cluster 1, h2bj" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8970 ; - skos:exactMatch HGNC_symbol:H2BC11 ; + skos:exactMatch UMLS:C1415425, + HGNC:4761, + HGNC_symbol:H2BC11 ; biolink:category biolink:Gene . OMIM:615045 a owl:Class ; rdfs:label "HIST1H2BK" ; IAO:0000142 PMID:12408966 ; - oboInOwl:hasDbXref UMLS:C1422300 ; oboInOwl:hasExactSynonym "HIST1H2BK", "hist1 cluster, h2bk", "histone gene cluster 1, h2b histone family, member k", "histone gene cluster 1, h2bk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85236 ; - skos:exactMatch HGNC_symbol:H2BC12 ; + skos:exactMatch UMLS:C1422300, + HGNC:13954, + HGNC_symbol:H2BC12 ; biolink:category biolink:Gene . OMIM:615046 a owl:Class ; rdfs:label "HIST3H2BB" ; IAO:0000142 PMID:12408966 ; - oboInOwl:hasDbXref UMLS:C1426983 ; oboInOwl:hasExactSynonym "HIST3H2BB", "hist3 cluster, h2bb", "histone gene cluster 3, h2b histone family, member B", "histone gene cluster 3, h2bb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128312 ; - skos:exactMatch HGNC_symbol:H2BU1 ; + skos:exactMatch UMLS:C1426983, + HGNC:20514, + HGNC_symbol:H2BU1 ; biolink:category biolink:Gene . OMIM:615047 a owl:Class ; @@ -331695,15 +345481,16 @@ OMIM:615047 a owl:Class ; PMID:31616000 ; RO:0002525 CHR:9606chr17q23.2-q23.3 ; RO:0003303 OMIM:618906 ; - oboInOwl:hasDbXref UMLS:C1823227, - UMLS:C5394588, - UMLS:C5394589 ; oboInOwl:hasExactSynonym "TANC2", "kiaa1636", "tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26115 ; - skos:exactMatch HGNC_symbol:TANC2 ; + skos:exactMatch UMLS:C1823227, + UMLS:C5394588, + UMLS:C5394589, + HGNC:30212, + HGNC_symbol:TANC2 ; biolink:category biolink:Gene . OMIM:615049 a owl:Class ; @@ -331714,13 +345501,14 @@ OMIM:615049 a owl:Class ; PMID:26264232 ; RO:0002525 CHR:9606chr10p12.1 ; RO:0003303 OMIM:616708 ; - oboInOwl:hasDbXref UMLS:C1424905 ; oboInOwl:hasExactSynonym "WAC", "kiaa1844", "ww domain-containing adaptor with coiled-coil region" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51322 ; - skos:exactMatch HGNC_symbol:WAC ; + skos:exactMatch UMLS:C1424905, + HGNC:17327, + HGNC_symbol:WAC ; biolink:category biolink:Gene . OMIM:615050 a owl:Class ; @@ -331728,12 +345516,13 @@ OMIM:615050 a owl:Class ; IAO:0000142 PMID:11509662, PMID:12076535, PMID:12593841 ; - oboInOwl:hasDbXref UMLS:C1424801 ; oboInOwl:hasExactSynonym "ASB5", "ankyrin repeat- and socs box-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140458 ; - skos:exactMatch HGNC_symbol:ASB5 ; + skos:exactMatch UMLS:C1424801, + HGNC:17180, + HGNC_symbol:ASB5 ; biolink:category biolink:Gene . OMIM:615051 a owl:Class ; @@ -331741,12 +345530,13 @@ OMIM:615051 a owl:Class ; IAO:0000142 PMID:11509662, PMID:12076535, PMID:16325183 ; - oboInOwl:hasDbXref UMLS:C1424802 ; oboInOwl:hasExactSynonym "ASB6", "ankyrin repeat- and socs box-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140459 ; - skos:exactMatch HGNC_symbol:ASB6 ; + skos:exactMatch UMLS:C1424802, + HGNC:17181, + HGNC_symbol:ASB6 ; biolink:category biolink:Gene . OMIM:615052 a owl:Class ; @@ -331754,12 +345544,13 @@ OMIM:615052 a owl:Class ; IAO:0000142 PMID:11509662, PMID:12076535, PMID:16325183 ; - oboInOwl:hasDbXref UMLS:C1424803 ; oboInOwl:hasExactSynonym "ASB7", "ankyrin repeat- and socs box-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140460 ; - skos:exactMatch HGNC_symbol:ASB7 ; + skos:exactMatch UMLS:C1424803, + HGNC:17182, + HGNC_symbol:ASB7 ; biolink:category biolink:Gene . OMIM:615053 a owl:Class ; @@ -331767,12 +345558,13 @@ OMIM:615053 a owl:Class ; IAO:0000142 PMID:11509662, PMID:12076535, PMID:12559969 ; - oboInOwl:hasDbXref UMLS:C1424804 ; oboInOwl:hasExactSynonym "ASB8", "ankyrin repeat- and socs box-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140461 ; - skos:exactMatch HGNC_symbol:ASB8 ; + skos:exactMatch UMLS:C1424804, + HGNC:17183, + HGNC_symbol:ASB8 ; biolink:category biolink:Gene . OMIM:615054 a owl:Class ; @@ -331783,34 +345575,37 @@ OMIM:615054 a owl:Class ; PMID:22156576 ; RO:0002525 CHR:9606chr7q36.1 ; RO:0003303 OMIM:603383 ; - oboInOwl:hasDbXref UMLS:C1424806 ; oboInOwl:hasExactSynonym "ASB10", "ankyrin repeat- and socs box-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136371 ; - skos:exactMatch HGNC_symbol:ASB10 ; + skos:exactMatch UMLS:C1424806, + HGNC:17185, + HGNC_symbol:ASB10 ; biolink:category biolink:Gene . OMIM:615055 a owl:Class ; rdfs:label "ASB13" ; IAO:0000142 PMID:12076535 ; - oboInOwl:hasDbXref UMLS:C1426394 ; oboInOwl:hasExactSynonym "ASB13", "ankyrin repeat- and socs box-containing protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79754 ; - skos:exactMatch HGNC_symbol:ASB13 ; + skos:exactMatch UMLS:C1426394, + HGNC:19765, + HGNC_symbol:ASB13 ; biolink:category biolink:Gene . OMIM:615056 a owl:Class ; rdfs:label "ASB16" ; IAO:0000142 PMID:12076535 ; - oboInOwl:hasDbXref UMLS:C1426397 ; oboInOwl:hasExactSynonym "ASB16", "ankyrin repeat- and socs box-containing protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92591 ; - skos:exactMatch HGNC_symbol:ASB16 ; + skos:exactMatch UMLS:C1426397, + HGNC:19768, + HGNC_symbol:ASB16 ; biolink:category biolink:Gene . OMIM:615057 a owl:Class ; @@ -331821,64 +345616,69 @@ OMIM:615060 a owl:Class ; rdfs:label "SCGB1D1" ; IAO:0000142 PMID:10066439, PMID:22155607 ; - oboInOwl:hasDbXref UMLS:C1425494 ; oboInOwl:hasExactSynonym "SCGB1D1", "lipophilin a", "secretoglobin, family 1d, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10648 ; - skos:exactMatch HGNC_symbol:SCGB1D1 ; + skos:exactMatch UMLS:C1425494, + HGNC:18395, + HGNC_symbol:SCGB1D1 ; biolink:category biolink:Gene . OMIM:615061 a owl:Class ; rdfs:label "SCGB1D2" ; IAO:0000142 PMID:10066439, PMID:22155607 ; - oboInOwl:hasDbXref UMLS:C1425495 ; oboInOwl:hasExactSynonym "SCGB1D2", "lipophilin B", "secretoglobin, family 1d, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10647 ; - skos:exactMatch HGNC_symbol:SCGB1D2 ; + skos:exactMatch UMLS:C1425495, + HGNC:18396, + HGNC_symbol:SCGB1D2 ; biolink:category biolink:Gene . OMIM:615062 a owl:Class ; rdfs:label "SCGB1D4" ; IAO:0000142 PMID:15034037, PMID:22155607 ; - oboInOwl:hasDbXref UMLS:C1822654 ; oboInOwl:hasExactSynonym "SCGB1D4", "interferon-gamma-inducible secretoglobin", "secretoglobin, family 1d, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:404552 ; - skos:exactMatch HGNC_symbol:SCGB1D4 ; + skos:exactMatch UMLS:C1822654, + HGNC:31748, + HGNC_symbol:SCGB1D4 ; biolink:category biolink:Gene . OMIM:615063 a owl:Class ; rdfs:label "SCGB2B2" ; IAO:0000142 PMID:22155607 ; - oboInOwl:hasDbXref UMLS:C3469679 ; oboInOwl:hasExactSynonym "SCGB2B2", "secretoglobin, family 2b, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284402 ; - skos:exactMatch HGNC_symbol:SCGB2B2 ; + skos:exactMatch UMLS:C3469679, + HGNC:27616, + HGNC_symbol:SCGB2B2 ; biolink:category biolink:Gene . OMIM:615064 a owl:Class ; rdfs:label "SLC25A29" ; IAO:0000142 PMID:12882971, PMID:19287344 ; - oboInOwl:hasDbXref UMLS:C1426700 ; oboInOwl:hasExactSynonym "SLC25A29", "carnitine-acylcarnitine translocase-like", "mitochondrial ornithine transporter 3", "solute carrier family 25 (carnitine/acylcarnitine translocase), member 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123096 ; - skos:exactMatch HGNC_symbol:SLC25A29 ; + skos:exactMatch UMLS:C1426700, + HGNC:20116, + HGNC_symbol:SLC25A29 ; biolink:category biolink:Gene . OMIM:615068 a owl:Class ; @@ -331891,7 +345691,6 @@ OMIM:615068 a owl:Class ; PMID:3344762 ; RO:0002525 CHR:9606chr18q12.3-q21.1 ; RO:0003303 OMIM:242840 ; - oboInOwl:hasDbXref UMLS:C3147174 ; oboInOwl:hasExactSynonym "EPG5", "ectopic p-granules autophagy protein 5 homolog", "ectopic p-granules autophagy protein 5, c. elegans, homolog of", @@ -331899,13 +345698,14 @@ OMIM:615068 a owl:Class ; "kiaa1632" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57724 ; - skos:exactMatch HGNC_symbol:EPG5 ; + skos:exactMatch UMLS:C3147174, + HGNC:29331, + HGNC_symbol:EPG5 ; biolink:category biolink:Gene . OMIM:615069 a owl:Class ; rdfs:label "HIST4H4" ; IAO:0000142 PMID:12408966 ; - oboInOwl:hasDbXref UMLS:C1426980 ; oboInOwl:hasExactSynonym "HIST4H4", "h4/p", "hist4 cluster, h4", @@ -331913,28 +345713,31 @@ OMIM:615069 a owl:Class ; "histone gene cluster 4, h4 histone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121504 ; - skos:exactMatch HGNC_symbol:H4-16 ; + skos:exactMatch UMLS:C1426980, + HGNC:20510, + HGNC_symbol:H4-16 ; biolink:category biolink:Gene . OMIM:615070 a owl:Class ; rdfs:label "MIR590" ; IAO:0000142 PMID:23222520 ; - oboInOwl:hasDbXref UMLS:C1826169 ; oboInOwl:hasExactSynonym "MIR590", "micro RNA 590", "mirn590", "mirna590" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693175 ; - skos:exactMatch HGNC_symbol:MIR590 ; + skos:exactMatch UMLS:C1826169, + HGNC:32846, + HGNC_symbol:MIR590 ; biolink:category biolink:Gene . OMIM:615072 a owl:Class ; rdfs:label "brachydactyly, iia a1, c" ; IAO:0000142 PMID:20683927 ; - oboInOwl:hasDbXref UMLS:C3554446 ; oboInOwl:hasExactSynonym "BDA1C", "brachydactyly, iia a1, c" ; + skos:exactMatch UMLS:C3554446 ; biolink:category biolink:Disease . OMIM:615075 a owl:Class ; @@ -331946,10 +345749,10 @@ OMIM:615075 a owl:Class ; PMID:27915094, PMID:28514307, PMID:28575650 ; - oboInOwl:hasDbXref UMLS:C3554449 ; oboInOwl:hasExactSynonym "NEDSDV", "mental retardation, autosomal dominant 19, formerly", "neurodevelopmental disorder with spastic diplegia and visual defects" ; + skos:exactMatch UMLS:C3554449 ; biolink:category biolink:Disease . OMIM:615076 a owl:Class ; @@ -331957,39 +345760,42 @@ OMIM:615076 a owl:Class ; IAO:0000142 PMID:23313956 ; RO:0002525 CHR:9606chr20p11.23 ; RO:0003303 OMIM:615084 ; - oboInOwl:hasDbXref UMLS:C1424082 ; oboInOwl:hasExactSynonym "MGME1", "chromosome 20 open reading frame 72", "mitochondrial genome maintenance exonuclease 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92667 ; - skos:exactMatch HGNC_symbol:MGME1 ; + skos:exactMatch UMLS:C1424082, + HGNC:16205, + HGNC_symbol:MGME1 ; biolink:category biolink:Gene . OMIM:615077 a owl:Class ; rdfs:label "TBC1D30" ; IAO:0000142 PMID:10231032, PMID:19077034 ; - oboInOwl:hasDbXref UMLS:C2240070 ; oboInOwl:hasExactSynonym "TBC1D30", "kiaa0984", "tbc1 domain family, member 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23329 ; - skos:exactMatch HGNC_symbol:TBC1D30 ; + skos:exactMatch UMLS:C2240070, + HGNC:29164, + HGNC_symbol:TBC1D30 ; biolink:category biolink:Gene . OMIM:615078 a owl:Class ; rdfs:label "GOLT1B" ; IAO:0000142 PMID:12414650 ; - oboInOwl:hasDbXref UMLS:C1539592 ; oboInOwl:hasExactSynonym "GOLT1B", "germ cell tumor 2", "golgi transport 1b", "got1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51026 ; - skos:exactMatch HGNC_symbol:GOLT1B ; + skos:exactMatch UMLS:C1539592, + HGNC:20175, + HGNC_symbol:GOLT1B ; biolink:category biolink:Gene . OMIM:615079 a owl:Class ; @@ -331998,7 +345804,6 @@ OMIM:615079 a owl:Class ; PMID:15737938, PMID:19357193, PMID:23097494 ; - oboInOwl:hasDbXref UMLS:C3469622 ; oboInOwl:hasExactSynonym "ASUN", "asunder, drosophila, homolog of", "asunder, spermatogenesis regulator", @@ -332006,18 +345811,21 @@ OMIM:615079 a owl:Class ; "mat89bb, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55726 ; - skos:exactMatch HGNC_symbol:INTS13 ; + skos:exactMatch UMLS:C3469622, + HGNC:20174, + HGNC_symbol:INTS13 ; biolink:category biolink:Gene . OMIM:615086 a owl:Class ; rdfs:label "HARBI1" ; IAO:0000142 PMID:15169610 ; - oboInOwl:hasDbXref UMLS:C1824343 ; oboInOwl:hasExactSynonym "HARBI1", "harbinger transposase-derived gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283254 ; - skos:exactMatch HGNC_symbol:HARBI1 ; + skos:exactMatch UMLS:C1824343, + HGNC:26522, + HGNC_symbol:HARBI1 ; biolink:category biolink:Gene . OMIM:615087 a owl:Class ; @@ -332030,7 +345838,6 @@ OMIM:615088 a owl:Class ; PMID:19597335, PMID:21791414, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C3146638 ; oboInOwl:hasExactSynonym "ATG13", "autophagy 13, s. cerevisiae, homolog of", "autophagy-related 13", @@ -332039,66 +345846,73 @@ OMIM:615088 a owl:Class ; "paratarg 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9776 ; - skos:exactMatch HGNC_symbol:ATG13 ; + skos:exactMatch UMLS:C3146638, + HGNC:29091, + HGNC_symbol:ATG13 ; biolink:category biolink:Gene . OMIM:615089 a owl:Class ; rdfs:label "ATG101" ; IAO:0000142 PMID:19597335 ; - oboInOwl:hasDbXref UMLS:C1824365 ; oboInOwl:hasExactSynonym "ATG101", "autophagy-related protein 101", "chromosome 12 open reading frame 44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60673 ; - skos:exactMatch HGNC_symbol:ATG101 ; + skos:exactMatch UMLS:C1824365, + HGNC:25679, + HGNC_symbol:ATG101 ; biolink:category biolink:Gene . OMIM:615090 a owl:Class ; rdfs:label "IFNL4" ; IAO:0000142 PMID:23291588 ; - oboInOwl:hasDbXref UMLS:C3541708 ; oboInOwl:hasExactSynonym "IFNL4", "interferon, lambda-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101180976 ; - skos:exactMatch HGNC_symbol:IFNL4 ; + skos:exactMatch UMLS:C3541708, + HGNC:44480, + HGNC_symbol:IFNL4 ; biolink:category biolink:Gene . OMIM:615093 a owl:Class ; rdfs:label "LY6K" ; IAO:0000142 PMID:12516096, PMID:22988241 ; - oboInOwl:hasDbXref UMLS:C1537625 ; oboInOwl:hasExactSynonym "LY6K", "lymphocyte antigen 6 complex, locus k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54742 ; - skos:exactMatch HGNC_symbol:LY6K ; + skos:exactMatch UMLS:C1537625, + HGNC:24225, + HGNC_symbol:LY6K ; biolink:category biolink:Gene . OMIM:615094 a owl:Class ; rdfs:label "PROX2" ; IAO:0000142 PMID:16470382 ; - oboInOwl:hasDbXref UMLS:C2239845 ; oboInOwl:hasExactSynonym "PROX2", "prospero-related homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283571 ; - skos:exactMatch HGNC_symbol:PROX2 ; + skos:exactMatch UMLS:C2239845, + HGNC:26715, + HGNC_symbol:PROX2 ; biolink:category biolink:Gene . OMIM:615096 a owl:Class ; rdfs:label "MIR217" ; IAO:0000142 PMID:19786632, PMID:22308024 ; - oboInOwl:hasDbXref UMLS:C1537853 ; oboInOwl:hasExactSynonym "MIR217", "micro RNA 217", "mirna217" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406999 ; - skos:exactMatch HGNC_symbol:MIR217 ; + skos:exactMatch UMLS:C1537853, + HGNC:31594, + HGNC_symbol:MIR217 ; biolink:category biolink:Gene . OMIM:615097 a owl:Class ; @@ -332107,35 +345921,36 @@ OMIM:615097 a owl:Class ; PMID:17502375, PMID:22896705, PMID:22932902 ; - oboInOwl:hasDbXref UMLS:C1420210 ; oboInOwl:hasExactSynonym "SLC6A13", "gaba transporter 2", "gaba transporter 3, mouse, homolog of", "solute carrier family 6 (neurotransmitter transporter, gaba), member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6540 ; - skos:exactMatch HGNC_symbol:SLC6A13 ; + skos:exactMatch UMLS:C1420210, + HGNC:11046, + HGNC_symbol:SLC6A13 ; biolink:category biolink:Gene . OMIM:615098 a owl:Class ; rdfs:label "TTC28" ; IAO:0000142 PMID:10470851, PMID:23036704 ; - oboInOwl:hasDbXref UMLS:C1823532 ; oboInOwl:hasExactSynonym "TTC28", "kiaa1043", "tetratricopeptide repeat domain-containing protein 28", "tprbk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23331 ; - skos:exactMatch HGNC_symbol:TTC28 ; + skos:exactMatch UMLS:C1823532, + HGNC:29179, + HGNC_symbol:TTC28 ; biolink:category biolink:Gene . OMIM:615099 a owl:Class ; rdfs:label "ERFE" ; IAO:0000142 PMID:22351773, PMID:24880340 ; - oboInOwl:hasDbXref UMLS:C2239422 ; oboInOwl:hasExactSynonym "ERFE", "c1q- and tumor necrosis factor-related protein 15", "erythroferrone", @@ -332143,19 +345958,22 @@ OMIM:615099 a owl:Class ; "myonectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151176 ; - skos:exactMatch HGNC_symbol:ERFE ; + skos:exactMatch UMLS:C2239422, + HGNC:26727, + HGNC_symbol:ERFE ; biolink:category biolink:Gene . OMIM:615100 a owl:Class ; rdfs:label "CTTNBP2NL" ; IAO:0000142 PMID:18782753, PMID:23015759 ; - oboInOwl:hasDbXref UMLS:C1824813 ; oboInOwl:hasExactSynonym "CTTNBP2NL", "cttnbp2 n terminus-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55917 ; - skos:exactMatch HGNC_symbol:CTTNBP2NL ; + skos:exactMatch UMLS:C1824813, + HGNC:25330, + HGNC_symbol:CTTNBP2NL ; biolink:category biolink:Gene . OMIM:615101 a owl:Class ; @@ -332165,20 +345983,21 @@ OMIM:615101 a owl:Class ; PMID:24702957 ; RO:0002525 CHR:9606chr6p25.2 ; RO:0003303 OMIM:615763 ; - oboInOwl:hasDbXref UMLS:C1823552 ; oboInOwl:hasExactSynonym "TUBB2A", "tubulin, beta, class 2a", "tubulin, beta-2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7280 ; - skos:exactMatch HGNC_symbol:TUBB2A ; + skos:exactMatch UMLS:C1823552, + HGNC:12412, + HGNC_symbol:TUBB2A ; biolink:category biolink:Gene . OMIM:615102 a owl:Class ; rdfs:label "tyshchenko syndrome" ; IAO:0000142 PMID:21834043 ; - oboInOwl:hasDbXref UMLS:C3554774 ; oboInOwl:hasExactSynonym "tyshchenko syndrome" ; + skos:exactMatch UMLS:C3554774 ; biolink:category biolink:Disease . OMIM:615103 a owl:Class ; @@ -332187,39 +346006,42 @@ OMIM:615103 a owl:Class ; PMID:29016863 ; RO:0002525 CHR:9606chr18p11.21 ; RO:0003303 OMIM:617732 ; - oboInOwl:hasDbXref UMLS:C1540128 ; oboInOwl:hasExactSynonym "TUBB6", "tubulin, beta, class 5", "tubulin, beta-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84617 ; - skos:exactMatch HGNC_symbol:TUBB6 ; + skos:exactMatch UMLS:C1540128, + HGNC:20776, + HGNC_symbol:TUBB6 ; biolink:category biolink:Gene . OMIM:615104 a owl:Class ; rdfs:label "NCKAP5L" ; IAO:0000142 PMID:10997877 ; - oboInOwl:hasDbXref UMLS:C1825693 ; oboInOwl:hasExactSynonym "NCKAP5L", "kiaa1602", "nck-associated protein 5-like", "nckap5-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57701 ; - skos:exactMatch HGNC_symbol:NCKAP5L ; + skos:exactMatch UMLS:C1825693, + HGNC:29321, + HGNC_symbol:NCKAP5L ; biolink:category biolink:Gene . OMIM:615105 a owl:Class ; rdfs:label "MRI1" ; IAO:0000142 PMID:19620624 ; - oboInOwl:hasDbXref UMLS:C2681840 ; oboInOwl:hasExactSynonym "MRI1", "mediator of rhoa-dependent invasion", "methylthioribose-1-phosphate isomerase 1", "methylthioribose-1-phosphate isomerase, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84245 ; - skos:exactMatch HGNC_symbol:MRI1 ; + skos:exactMatch UMLS:C2681840, + HGNC:28469, + HGNC_symbol:MRI1 ; biolink:category biolink:Gene . OMIM:615106 a owl:Class ; @@ -332229,54 +346051,57 @@ OMIM:615106 a owl:Class ; OMIM:615108 a owl:Class ; rdfs:label "cowden syndrome 5" ; IAO:0000142 PMID:23246288 ; - oboInOwl:hasDbXref UMLS:C3554518 ; oboInOwl:hasExactSynonym "CWS5", "cowden syndrome 5" ; rdfs:subClassOf OMIMPS:158350 ; + skos:exactMatch UMLS:C3554518 ; biolink:category biolink:Disease . OMIM:615109 a owl:Class ; rdfs:label "cowden syndrome 6" ; IAO:0000142 PMID:23246288 ; - oboInOwl:hasDbXref UMLS:C3554519 ; oboInOwl:hasExactSynonym "CWS6", "cowden syndrome 6" ; rdfs:subClassOf OMIMPS:158350 ; + skos:exactMatch UMLS:C3554519 ; biolink:category biolink:Disease . OMIM:615110 a owl:Class ; rdfs:label "WDR53" ; IAO:0000142 PMID:17041588 ; - oboInOwl:hasDbXref UMLS:C1538098 ; oboInOwl:hasExactSynonym "WDR53", "wd repeat-containing protein 53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348793 ; - skos:exactMatch HGNC_symbol:WDR53 ; + skos:exactMatch UMLS:C1538098, + HGNC:28786, + HGNC_symbol:WDR53 ; biolink:category biolink:Gene . OMIM:615111 a owl:Class ; rdfs:label "DENND2D" ; IAO:0000142 PMID:23182661 ; - oboInOwl:hasDbXref UMLS:C1824911 ; oboInOwl:hasExactSynonym "DENND2D", "denn/madd domain-containing protein 2d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79961 ; - skos:exactMatch HGNC_symbol:DENND2D ; + skos:exactMatch UMLS:C1824911, + HGNC:26192, + HGNC_symbol:DENND2D ; biolink:category biolink:Gene . OMIM:615114 a owl:Class ; rdfs:label "ZNF516" ; IAO:0000142 PMID:23446422, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1428766 ; oboInOwl:hasExactSynonym "ZNF516", "kiaa0222", "zinc finger protein 516" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9658 ; - skos:exactMatch HGNC_symbol:ZNF516 ; + skos:exactMatch UMLS:C1428766, + HGNC:28990, + HGNC_symbol:ZNF516 ; biolink:category biolink:Gene . OMIM:615115 a owl:Class ; @@ -332288,39 +346113,42 @@ OMIM:615115 a owl:Class ; PMID:28100473 ; RO:0002525 CHR:9606chr18q12.1 ; RO:0003303 OMIM:615485 ; - oboInOwl:hasDbXref UMLS:C2239906, - UMLS:C3809650 ; oboInOwl:hasExactSynonym "ASXL3", "additional sex combs-like 3", "asxl transcriptional regulator 3", "kiaa1713" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80816 ; - skos:exactMatch HGNC_symbol:ASXL3 ; + skos:exactMatch UMLS:C2239906, + UMLS:C3809650, + HGNC:29357, + HGNC_symbol:ASXL3 ; biolink:category biolink:Gene . OMIM:615116 a owl:Class ; rdfs:label "SPEM1" ; IAO:0000142 PMID:17426145 ; - oboInOwl:hasDbXref UMLS:C1824475 ; oboInOwl:hasExactSynonym "SPEM1", "chromosome 17 open reading frame 83", "spermatid maturation protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374768 ; - skos:exactMatch HGNC_symbol:SPEM1 ; + skos:exactMatch UMLS:C1824475, + HGNC:32429, + HGNC_symbol:SPEM1 ; biolink:category biolink:Gene . OMIM:615117 a owl:Class ; rdfs:label "C2ORF88" ; IAO:0000142 PMID:23115245 ; - oboInOwl:hasDbXref UMLS:C2681212 ; oboInOwl:hasExactSynonym "C2ORF88", "chromosome 2 open reading frame 88", "small membrane protein kinase a-anchoring protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84281 ; - skos:exactMatch HGNC_symbol:C2orf88 ; + skos:exactMatch UMLS:C2681212, + HGNC:28191, + HGNC_symbol:C2orf88 ; biolink:category biolink:Gene . OMIM:615118 a owl:Class ; @@ -332332,54 +346160,58 @@ OMIM:615121 a owl:Class ; IAO:0000142 PMID:19405124, PMID:19767238, PMID:21791414 ; - oboInOwl:hasDbXref UMLS:C3554539 ; oboInOwl:hasExactSynonym "hyperphosphorylated paratarg-7", "stomatin-like protein-2, hyperphosphorylation of" ; + skos:exactMatch UMLS:C3554539 ; biolink:category biolink:Disease . OMIM:615123 a owl:Class ; rdfs:label "ANKRD13A" ; IAO:0000142 PMID:22298428 ; - oboInOwl:hasDbXref UMLS:C1823666 ; oboInOwl:hasExactSynonym "ANKRD13A", "ankyrin repeat domain-containing protein 13a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:88455 ; - skos:exactMatch HGNC_symbol:ANKRD13A ; + skos:exactMatch UMLS:C1823666, + HGNC:21268, + HGNC_symbol:ANKRD13A ; biolink:category biolink:Gene . OMIM:615124 a owl:Class ; rdfs:label "ANKRD13B" ; IAO:0000142 PMID:22298428 ; - oboInOwl:hasDbXref UMLS:C1823667 ; oboInOwl:hasExactSynonym "ANKRD13B", "ankyrin repeat domain-containing protein 13b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124930 ; - skos:exactMatch HGNC_symbol:ANKRD13B ; + skos:exactMatch UMLS:C1823667, + HGNC:26363, + HGNC_symbol:ANKRD13B ; biolink:category biolink:Gene . OMIM:615125 a owl:Class ; rdfs:label "ANKRD13C" ; IAO:0000142 PMID:20959461, PMID:22298428 ; - oboInOwl:hasDbXref UMLS:C1823668 ; oboInOwl:hasExactSynonym "ANKRD13C", "ankyrin repeat domain-containing protein 13c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81573 ; - skos:exactMatch HGNC_symbol:ANKRD13C ; + skos:exactMatch UMLS:C1823668, + HGNC:25374, + HGNC_symbol:ANKRD13C ; biolink:category biolink:Gene . OMIM:615126 a owl:Class ; rdfs:label "ANKRD13D" ; IAO:0000142 PMID:22298428 ; - oboInOwl:hasDbXref UMLS:C1823669 ; oboInOwl:hasExactSynonym "ANKRD13D", "ankyrin repeat domain-containing protein 13d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338692 ; - skos:exactMatch HGNC_symbol:ANKRD13D ; + skos:exactMatch UMLS:C1823669, + HGNC:27880, + HGNC_symbol:ANKRD13D ; biolink:category biolink:Gene . OMIM:615128 a owl:Class ; @@ -332388,7 +346220,6 @@ OMIM:615128 a owl:Class ; PMID:20347428, PMID:20347429, PMID:8839844 ; - oboInOwl:hasDbXref UMLS:C1420488 ; oboInOwl:hasExactSynonym "CENPX", "centromeric protein 10", "fancm-interacting histone-fold protein 2", @@ -332397,20 +346228,23 @@ OMIM:615128 a owl:Class ; "stimulated by retinoic acid 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201254 ; - skos:exactMatch HGNC_symbol:CENPX ; + skos:exactMatch UMLS:C1420488, + HGNC:11422, + HGNC_symbol:CENPX ; biolink:category biolink:Gene . OMIM:615129 a owl:Class ; rdfs:label "GALNT5" ; IAO:0000142 PMID:10545594, PMID:20977886 ; - oboInOwl:hasDbXref UMLS:C1414955 ; oboInOwl:hasExactSynonym "GALNT5", "galnac transferase 5", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11227 ; - skos:exactMatch HGNC_symbol:GALNT5 ; + skos:exactMatch UMLS:C1414955, + HGNC:4127, + HGNC_symbol:GALNT5 ; biolink:category biolink:Gene . OMIM:615130 a owl:Class ; @@ -332419,33 +346253,34 @@ OMIM:615130 a owl:Class ; PMID:20977886, PMID:21282601, PMID:24226769 ; - oboInOwl:hasDbXref UMLS:C1426500 ; oboInOwl:hasExactSynonym "GALNT11", "galnac transferase 11", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63917 ; - skos:exactMatch HGNC_symbol:GALNT11 ; + skos:exactMatch UMLS:C1426500, + HGNC:19875, + HGNC_symbol:GALNT11 ; biolink:category biolink:Gene . OMIM:615131 a owl:Class ; rdfs:label "GALNT15" ; IAO:0000142 PMID:15147861, PMID:20977886 ; - oboInOwl:hasDbXref UMLS:C1427591 ; oboInOwl:hasExactSynonym "GALNT15", "galnac transferase 15", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117248 ; - skos:exactMatch HGNC_symbol:GALNT15 ; + skos:exactMatch UMLS:C1427591, + HGNC:21531, + HGNC_symbol:GALNT15 ; biolink:category biolink:Gene . OMIM:615132 a owl:Class ; rdfs:label "GALNT16" ; IAO:0000142 PMID:10574461, PMID:20977886 ; - oboInOwl:hasDbXref UMLS:C1428007 ; oboInOwl:hasExactSynonym "GALNT16", "galnac transferase 16", "galnac transferase-like 1", @@ -332453,32 +346288,36 @@ OMIM:615132 a owl:Class ; "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57452 ; - skos:exactMatch HGNC_symbol:GALNT16 ; + skos:exactMatch UMLS:C1428007, + HGNC:23233, + HGNC_symbol:GALNT16 ; biolink:category biolink:Gene . OMIM:615133 a owl:Class ; rdfs:label "GALNTL5" ; IAO:0000142 PMID:20977886 ; - oboInOwl:hasDbXref UMLS:C1539547 ; oboInOwl:hasExactSynonym "GALNTL5", "galnac transferase 19", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:168391 ; - skos:exactMatch HGNC_symbol:GALNTL5 ; + skos:exactMatch UMLS:C1539547, + HGNC:21725, + HGNC_symbol:GALNTL5 ; biolink:category biolink:Gene . OMIM:615136 a owl:Class ; rdfs:label "GALNT18" ; IAO:0000142 PMID:22171061 ; - oboInOwl:hasDbXref UMLS:C1539546 ; oboInOwl:hasExactSynonym "GALNT18", "galnac transferase 18", "galnac transferase-like 4", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374378 ; - skos:exactMatch HGNC_symbol:GALNT18 ; + skos:exactMatch UMLS:C1539546, + HGNC:30488, + HGNC_symbol:GALNT18 ; biolink:category biolink:Gene . OMIM:615137 a owl:Class ; @@ -332487,7 +346326,6 @@ OMIM:615137 a owl:Class ; PMID:20977886, PMID:22171061, PMID:22787146 ; - oboInOwl:hasDbXref UMLS:C1424206 ; oboInOwl:hasExactSynonym "GALNT17", "galnac transferase 17", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 17", @@ -332495,28 +346333,31 @@ OMIM:615137 a owl:Class ; "williams-beuren syndrome chromosome region 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64409 ; - skos:exactMatch HGNC_symbol:GALNT17 ; + skos:exactMatch UMLS:C1424206, + HGNC:16347, + HGNC_symbol:GALNT17 ; biolink:category biolink:Gene . OMIM:615138 a owl:Class ; rdfs:label "GALNTL6" ; IAO:0000142 PMID:20977886 ; - oboInOwl:hasDbXref UMLS:C2681539 ; oboInOwl:hasExactSynonym "GALNTL6", "galnac transferase 20", "udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase-like 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442117 ; - skos:exactMatch HGNC_symbol:GALNTL6 ; + skos:exactMatch UMLS:C2681539, + HGNC:33844, + HGNC_symbol:GALNTL6 ; biolink:category biolink:Gene . OMIM:615139 a owl:Class ; rdfs:label "facial dysmorphism, immunodeficiency, livedo, and short stature" ; IAO:0000142 PMID:23230001, PMID:25948378 ; - oboInOwl:hasDbXref UMLS:C3554576 ; oboInOwl:hasExactSynonym "FILS", "facial dysmorphism, immunodeficiency, livedo, and short stature" ; + skos:exactMatch UMLS:C3554576 ; biolink:category biolink:Disease . OMIM:615140 a owl:Class ; @@ -332530,13 +346371,14 @@ OMIM:615140 a owl:Class ; PMID:9445485 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:218340 ; - oboInOwl:hasDbXref UMLS:C1824378 ; oboInOwl:hasExactSynonym "C12ORF57", "c10", "chromosome 12 open reading frame 57" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113246 ; - skos:exactMatch HGNC_symbol:C12orf57 ; + skos:exactMatch UMLS:C1824378, + HGNC:29521, + HGNC_symbol:C12orf57 ; biolink:category biolink:Gene . OMIM:615141 a owl:Class ; @@ -332546,12 +346388,13 @@ OMIM:615141 a owl:Class ; OMIM:615142 a owl:Class ; rdfs:label "KIF2B" ; IAO:0000142 PMID:17538014 ; - oboInOwl:hasDbXref UMLS:C1537481 ; oboInOwl:hasExactSynonym "KIF2B", "kinesin family member 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84643 ; - skos:exactMatch HGNC_symbol:KIF2B ; + skos:exactMatch UMLS:C1537481, + HGNC:29443, + HGNC_symbol:KIF2B ; biolink:category biolink:Gene . OMIM:615143 a owl:Class ; @@ -332559,26 +346402,28 @@ OMIM:615143 a owl:Class ; IAO:0000142 PMID:10231032, PMID:12865408, PMID:21801292 ; - oboInOwl:hasDbXref UMLS:C1421398 ; oboInOwl:hasExactSynonym "USP20", "kiaa1003", "ubiquitin-specific protease 20", "vhl-interacting deubiquitinating enzyme 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10868 ; - skos:exactMatch HGNC_symbol:USP20 ; + skos:exactMatch UMLS:C1421398, + HGNC:12619, + HGNC_symbol:USP20 ; biolink:category biolink:Gene . OMIM:615144 a owl:Class ; rdfs:label "PRSS55" ; IAO:0000142 PMID:18844450 ; - oboInOwl:hasDbXref UMLS:C2828579 ; oboInOwl:hasExactSynonym "PRSS55", "protease, serine, 55", "testis serine protease 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203074 ; - skos:exactMatch HGNC_symbol:PRSS55 ; + skos:exactMatch UMLS:C2828579, + HGNC:30824, + HGNC_symbol:PRSS55 ; biolink:category biolink:Gene . OMIM:615146 a owl:Class ; @@ -332589,77 +346434,83 @@ OMIM:615146 a owl:Class ; PMID:19684588, PMID:21801292, PMID:23486064 ; - oboInOwl:hasDbXref UMLS:C1426647 ; oboInOwl:hasExactSynonym "USP33", "kiaa1097", "ubiquitin-specific protease 33", "vhl-interacting deubiquitinating enzyme 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23032 ; - skos:exactMatch HGNC_symbol:USP33 ; + skos:exactMatch UMLS:C1426647, + HGNC:20059, + HGNC_symbol:USP33 ; biolink:category biolink:Gene . OMIM:615148 a owl:Class ; rdfs:label "MIR551A" ; IAO:0000142 PMID:22469786 ; - oboInOwl:hasDbXref UMLS:C1826129 ; oboInOwl:hasExactSynonym "MIR551A", "micro RNA 551a", "mirna155a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693135 ; - skos:exactMatch HGNC_symbol:MIR551A ; + skos:exactMatch UMLS:C1826129, + HGNC:32806, + HGNC_symbol:MIR551A ; biolink:category biolink:Gene . OMIM:615149 a owl:Class ; rdfs:label "MIR495" ; IAO:0000142 PMID:21258409, PMID:22469786 ; - oboInOwl:hasDbXref UMLS:C1826049 ; oboInOwl:hasExactSynonym "MIR495", "micro RNA 495", "mirna495" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574453 ; - skos:exactMatch HGNC_symbol:MIR495 ; + skos:exactMatch UMLS:C1826049, + HGNC:32085, + HGNC_symbol:MIR495 ; biolink:category biolink:Gene . OMIM:615150 a owl:Class ; rdfs:label "MIR191" ; IAO:0000142 PMID:22683624 ; - oboInOwl:hasDbXref UMLS:C1537824 ; oboInOwl:hasExactSynonym "MIR191", "micro RNA 191", "mirna191" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406966 ; - skos:exactMatch HGNC_symbol:MIR191 ; + skos:exactMatch UMLS:C1537824, + HGNC:31561, + HGNC_symbol:MIR191 ; biolink:category biolink:Gene . OMIM:615151 a owl:Class ; rdfs:label "MIR30C1" ; IAO:0000142 PMID:19048628 ; - oboInOwl:hasDbXref UMLS:C1537738 ; oboInOwl:hasExactSynonym "MIR30C1", "micro RNA 30c-1", "mina30c1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407031 ; - skos:exactMatch HGNC_symbol:MIR30C1 ; + skos:exactMatch UMLS:C1537738, + HGNC:31626, + HGNC_symbol:MIR30C1 ; biolink:category biolink:Gene . OMIM:615152 a owl:Class ; rdfs:label "KLHDC10" ; IAO:0000142 PMID:23102700, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C2681633 ; oboInOwl:hasExactSynonym "KLHDC10", "kelch domain-containing protein 10", "scruin-like at the midline, drosophila, homolog of", "slim, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23008 ; - skos:exactMatch HGNC_symbol:KLHDC10 ; + skos:exactMatch UMLS:C2681633, + HGNC:22194, + HGNC_symbol:KLHDC10 ; biolink:category biolink:Gene . OMIM:615153 a owl:Class ; @@ -332668,74 +346519,80 @@ OMIM:615153 a owl:Class ; PMID:22265413, PMID:22265414, PMID:22421439 ; - oboInOwl:hasDbXref UMLS:C1537924 ; oboInOwl:hasExactSynonym "MLKL", "mixed lineage kinase domain-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197259 ; - skos:exactMatch HGNC_symbol:MLKL ; + skos:exactMatch UMLS:C1537924, + HGNC:26617, + HGNC_symbol:MLKL ; biolink:category biolink:Gene . OMIM:615154 a owl:Class ; rdfs:label "DYDC1" ; IAO:0000142 PMID:19545932 ; - oboInOwl:hasDbXref UMLS:C1539320 ; oboInOwl:hasExactSynonym "DYDC1", "dpy30 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143241 ; - skos:exactMatch HGNC_symbol:DYDC1 ; + skos:exactMatch UMLS:C1539320, + HGNC:23460, + HGNC_symbol:DYDC1 ; biolink:category biolink:Gene . OMIM:615161 a owl:Class ; rdfs:label "HLA-DQB2" ; IAO:0000142 PMID:22407913, PMID:2564844 ; - oboInOwl:hasDbXref UMLS:C1415573 ; oboInOwl:hasExactSynonym "HLA-DQB2", "dx-beta", "major histocompatibility complex, class ii, dq beta-2", "major histocompatibility complex, class ii, dx beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3120 ; - skos:exactMatch HGNC_symbol:HLA-DQB2 ; + skos:exactMatch UMLS:C1415573, + HGNC:4945, + HGNC_symbol:HLA-DQB2 ; biolink:category biolink:Gene . OMIM:615164 a owl:Class ; rdfs:label "AKIRIN1" ; IAO:0000142 PMID:18066067, PMID:23363597 ; - oboInOwl:hasDbXref UMLS:C1823728 ; oboInOwl:hasExactSynonym "AKIRIN1", "akirin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79647 ; - skos:exactMatch HGNC_symbol:AKIRIN1 ; + skos:exactMatch UMLS:C1823728, + HGNC:25744, + HGNC_symbol:AKIRIN1 ; biolink:category biolink:Gene . OMIM:615165 a owl:Class ; rdfs:label "AKIRIN2" ; IAO:0000142 PMID:18066067, PMID:23363597 ; - oboInOwl:hasDbXref UMLS:C1427552 ; oboInOwl:hasExactSynonym "AKIRIN2", "akirin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55122 ; - skos:exactMatch HGNC_symbol:AKIRIN2 ; + skos:exactMatch UMLS:C1427552, + HGNC:21407, + HGNC_symbol:AKIRIN2 ; biolink:category biolink:Gene . OMIM:615166 a owl:Class ; rdfs:label "CMC1" ; IAO:0000142 PMID:18443040 ; - oboInOwl:hasDbXref UMLS:C2240263 ; oboInOwl:hasExactSynonym "CMC1", "c3orf68", "cox assembly mitochondrial protein 1, s. cerevisiae, homolog of", "mitochondrial metallochaperone-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152100 ; - skos:exactMatch HGNC_symbol:CMC1 ; + skos:exactMatch UMLS:C2240263, + HGNC:28783, + HGNC_symbol:CMC1 ; biolink:category biolink:Gene . OMIM:615167 a owl:Class ; @@ -332743,7 +346600,6 @@ OMIM:615167 a owl:Class ; IAO:0000142 PMID:17074343, PMID:20180869, PMID:22645314 ; - oboInOwl:hasDbXref UMLS:C2239659 ; oboInOwl:hasExactSynonym "LRWD1", "centromere protein 33", "leucine-rich repeats- and wd repeat domain-containing protein 1", @@ -332751,76 +346607,82 @@ OMIM:615167 a owl:Class ; "origin recognition complex-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222229 ; - skos:exactMatch HGNC_symbol:LRWD1 ; + skos:exactMatch UMLS:C2239659, + HGNC:21769, + HGNC_symbol:LRWD1 ; biolink:category biolink:Gene . OMIM:615168 a owl:Class ; rdfs:label "AMZ1" ; IAO:0000142 PMID:11853319, PMID:15972818 ; - oboInOwl:hasDbXref UMLS:C2239529 ; oboInOwl:hasExactSynonym "AMZ1", "archaelysin family metallopeptidase 1", "archaemetzincin 1", "kiaa1950" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155185 ; - skos:exactMatch HGNC_symbol:AMZ1 ; + skos:exactMatch UMLS:C2239529, + HGNC:22231, + HGNC_symbol:AMZ1 ; biolink:category biolink:Gene . OMIM:615169 a owl:Class ; rdfs:label "AMZ2" ; IAO:0000142 PMID:15972818, PMID:17074343 ; - oboInOwl:hasDbXref UMLS:C2239530 ; oboInOwl:hasExactSynonym "AMZ2", "archaelysin family metallopeptidase 2", "archaemetzincin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51321 ; - skos:exactMatch HGNC_symbol:AMZ2 ; + skos:exactMatch UMLS:C2239530, + HGNC:28041, + HGNC_symbol:AMZ2 ; biolink:category biolink:Gene . OMIM:615170 a owl:Class ; rdfs:label "wahab syndrome" ; IAO:0000142 PMID:20683984 ; - oboInOwl:hasDbXref UMLS:C3554611 ; oboInOwl:hasExactSynonym "camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome", "wahab syndrome" ; + skos:exactMatch UMLS:C3554611 ; biolink:category biolink:Disease . OMIM:615171 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:17074343 ; - oboInOwl:hasDbXref UMLS:C3554631 ; oboInOwl:hasExactSynonym "loc100134040", "loc100134040 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100134040 ; + skos:exactMatch UMLS:C3554631 ; biolink:category biolink:Gene . OMIM:615172 a owl:Class ; rdfs:label "RNFT1" ; IAO:0000142 PMID:17074343 ; - oboInOwl:hasDbXref UMLS:C2239901 ; oboInOwl:hasExactSynonym "RNFT1", "ring finger protein, transmembrane 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51136 ; - skos:exactMatch HGNC_symbol:RNFT1 ; + skos:exactMatch UMLS:C2239901, + HGNC:30206, + HGNC_symbol:RNFT1 ; biolink:category biolink:Gene . OMIM:615173 a owl:Class ; rdfs:label "LINC-ROR" ; IAO:0000142 PMID:21057500, PMID:23208419 ; - oboInOwl:hasDbXref UMLS:C3470566 ; oboInOwl:hasExactSynonym "LINC-ROR", "lincrna ror", "long intergenic noncoding rna, regulator of reprogramming" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100885779 ; - skos:exactMatch HGNC_symbol:LINC-ROR ; + skos:exactMatch UMLS:C3470566, + HGNC:43773, + HGNC_symbol:LINC-ROR ; biolink:category biolink:Gene . OMIM:615175 a owl:Class ; @@ -332828,61 +346690,66 @@ OMIM:615175 a owl:Class ; IAO:0000142 PMID:23275342 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:619531 ; - oboInOwl:hasDbXref UMLS:C1539464 ; oboInOwl:hasExactSynonym "TLCD3B", "family with sequence similarity 57, member B", "tlc domain-containing protein 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83723 ; - skos:exactMatch HGNC_symbol:TLCD3B ; + skos:exactMatch UMLS:C1539464, + HGNC:25295, + HGNC_symbol:TLCD3B ; biolink:category biolink:Gene . OMIM:615176 a owl:Class ; rdfs:label "NPTNIT1" ; - oboInOwl:hasDbXref UMLS:C3541498 ; oboInOwl:hasExactSynonym "NPTNIT1", "lncrna let", "long noncoding rna, low expression 1n tumor", "nptn intronic transcript 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101241892 ; - skos:exactMatch HGNC_symbol:NPTN-IT1 ; + skos:exactMatch UMLS:C3541498, + HGNC:45091, + HGNC_symbol:NPTN-IT1 ; biolink:category biolink:Gene . OMIM:615177 a owl:Class ; rdfs:label "RNF126" ; IAO:0000142 PMID:23026136 ; - oboInOwl:hasDbXref UMLS:C1427366 ; oboInOwl:hasExactSynonym "RNF126", "ring finger protein 126" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55658 ; - skos:exactMatch HGNC_symbol:RNF126 ; + skos:exactMatch UMLS:C1427366, + HGNC:21151, + HGNC_symbol:RNF126 ; biolink:category biolink:Gene . OMIM:615178 a owl:Class ; rdfs:label "KXD1" ; IAO:0000142 PMID:22554196, PMID:25898167 ; - oboInOwl:hasDbXref UMLS:C3470554 ; oboInOwl:hasExactSynonym "KXD1", "chromosome 19 open reading frame 50", "kxdl motif-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79036 ; - skos:exactMatch HGNC_symbol:KXD1 ; + skos:exactMatch UMLS:C3470554, + HGNC:28420, + HGNC_symbol:KXD1 ; biolink:category biolink:Gene . OMIM:615180 a owl:Class ; rdfs:label "TIMM21" ; IAO:0000142 PMID:23260140 ; - oboInOwl:hasDbXref UMLS:C3469993 ; oboInOwl:hasExactSynonym "TIMM21", "tim21, yeast, homolog of", "translocase of inner mitochondrial membrane 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29090 ; - skos:exactMatch HGNC_symbol:TIMM21 ; + skos:exactMatch UMLS:C3469993, + HGNC:25010, + HGNC_symbol:TIMM21 ; biolink:category biolink:Gene . OMIM:615182 a owl:Class ; @@ -332891,32 +346758,33 @@ OMIM:615182 a owl:Class ; PMID:23393310, PMID:23561848, PMID:26870663 ; - oboInOwl:hasDbXref UMLS:C2746066 ; oboInOwl:hasExactSynonym "D2L2AD", "combined d-2- and l-2-hydroxyglutaric aciduria" ; + skos:exactMatch UMLS:C2746066 ; biolink:category biolink:Disease . OMIM:615183 a owl:Class ; rdfs:label "C1ORF86" ; IAO:0000142 PMID:22343915, PMID:22705371 ; - oboInOwl:hasDbXref UMLS:C1823706 ; oboInOwl:hasExactSynonym "C1ORF86", "chromosome 1 open reading frame 86", "fanconi anemia-associated protein, 20-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199990 ; - skos:exactMatch HGNC_symbol:FAAP20 ; + skos:exactMatch UMLS:C1823706, + HGNC:26428, + HGNC_symbol:FAAP20 ; biolink:category biolink:Gene . OMIM:615184 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1ii" ; IAO:0000142 PMID:16483541, PMID:16793013 ; - oboInOwl:hasDbXref UMLS:C3554649 ; oboInOwl:hasExactSynonym "CMD1II", "cardiomyopathy, dilated, 1ii" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C3554649 ; biolink:category biolink:Disease . OMIM:615186 a owl:Class ; @@ -332925,7 +346793,6 @@ OMIM:615186 a owl:Class ; PMID:22959432, PMID:22961380, PMID:23236153 ; - oboInOwl:hasDbXref UMLS:C2681389 ; oboInOwl:hasExactSynonym "CWC22", "cwc22 spliceosome-associated protein homolog", "cwc22 spliceosome-associated protein, s. cerevisiae, homolog of", @@ -332933,7 +346800,9 @@ OMIM:615186 a owl:Class ; "nucampholin, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57703 ; - skos:exactMatch HGNC_symbol:CWC22 ; + skos:exactMatch UMLS:C2681389, + HGNC:29322, + HGNC_symbol:CWC22 ; biolink:category biolink:Gene . OMIM:615187 a owl:Class ; @@ -332947,25 +346816,27 @@ OMIM:615187 a owl:Class ; PMID:23561847 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:614207 ; - oboInOwl:hasDbXref UMLS:C2828415 ; oboInOwl:hasExactSynonym "PGAP2", "cell wall biogenesis protein 43 n-terminal homolog", "fgf receptor-activating protein 1", "post-gpi attachment to proteins 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27315 ; - skos:exactMatch HGNC_symbol:PGAP2 ; + skos:exactMatch UMLS:C2828415, + HGNC:17893, + HGNC_symbol:PGAP2 ; biolink:category biolink:Gene . OMIM:615189 a owl:Class ; rdfs:label "ANKRD55" ; IAO:0000142 PMID:22130326 ; - oboInOwl:hasDbXref UMLS:C1823689 ; oboInOwl:hasExactSynonym "ANKRD55", "ankyrin repeat domain-containing protein 55" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79722 ; - skos:exactMatch HGNC_symbol:ANKRD55 ; + skos:exactMatch UMLS:C1823689, + HGNC:25681, + HGNC_symbol:ANKRD55 ; biolink:category biolink:Gene . OMIM:615190 a owl:Class ; @@ -332975,12 +346846,12 @@ OMIM:615190 a owl:Class ; PMID:23453664, PMID:23591994, PMID:23959892 ; - oboInOwl:hasDbXref UMLS:C3554656, - UMLS:C3808802 ; oboInOwl:hasExactSynonym "DKCB5", "dyskeratosis congenita, autosomal dominant 4", "dyskeratosis congenita, autosomal recessive 5" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C3554656, + UMLS:C3808802 ; biolink:category biolink:Disease . OMIM:615194 a owl:Class ; @@ -332990,27 +346861,29 @@ OMIM:615194 a owl:Class ; PMID:20547751, PMID:23036705, PMID:7556196 ; - oboInOwl:hasDbXref UMLS:C1425464 ; oboInOwl:hasExactSynonym "DHRS2", "hep27", "sdr family, member 2", "short-chain dehydrogenase/reductase family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10202 ; - skos:exactMatch HGNC_symbol:DHRS2 ; + skos:exactMatch UMLS:C1425464, + HGNC:18349, + HGNC_symbol:DHRS2 ; biolink:category biolink:Gene . OMIM:615195 a owl:Class ; rdfs:label "DHRS4L1" ; IAO:0000142 PMID:22891334, PMID:23036705 ; - oboInOwl:hasDbXref UMLS:C1426369 ; oboInOwl:hasExactSynonym "DHRS4L1", "dhrs4-like 1", "short-chain dehydrogenase/reductase family, member 4-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728635 ; - skos:exactMatch HGNC_symbol:DHRS4L1 ; + skos:exactMatch UMLS:C1426369, + HGNC:19732, + HGNC_symbol:DHRS4L1 ; biolink:category biolink:Gene . OMIM:615196 a owl:Class ; @@ -333018,28 +346891,30 @@ OMIM:615196 a owl:Class ; IAO:0000142 PMID:18754758, PMID:22891334, PMID:23036705 ; - oboInOwl:hasDbXref UMLS:C1426368 ; oboInOwl:hasExactSynonym "DHRS4L2", "dhrs4-like 2", "dhrs4p1", "short-chain dehydrogenase/reductase family, member 4-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:317749 ; - skos:exactMatch HGNC_symbol:DHRS4L2 ; + skos:exactMatch UMLS:C1426368, + HGNC:19731, + HGNC_symbol:DHRS4L2 ; biolink:category biolink:Gene . OMIM:615199 a owl:Class ; rdfs:label "SLC35G5" ; IAO:0000142 PMID:11896452, PMID:17101974 ; - oboInOwl:hasDbXref UMLS:C3469830 ; oboInOwl:hasExactSynonym "SLC35G5", "acyl-malonyl-condensing enzyme", "acyl-malonyl-condensing enzyme 1-like 2", "solute carrier family 35, member g5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83650 ; - skos:exactMatch HGNC_symbol:SLC35G5 ; + skos:exactMatch UMLS:C3469830, + HGNC:15546, + HGNC_symbol:SLC35G5 ; biolink:category biolink:Gene . OMIM:615200 a owl:Class ; @@ -333047,7 +346922,6 @@ OMIM:615200 a owl:Class ; IAO:0000142 PMID:16188880, PMID:22115783, PMID:31189603 ; - oboInOwl:hasDbXref UMLS:C1427120 ; oboInOwl:hasExactSynonym "PLEKHF1", "lysosome-associated apoptosis-inducing protein containing ph and fyve domains", "ph and fyve domains-containing protein 1", @@ -333055,45 +346929,50 @@ OMIM:615200 a owl:Class ; "pleckstrin homology domain-containing protein, family f, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79156 ; - skos:exactMatch HGNC_symbol:PLEKHF1 ; + skos:exactMatch UMLS:C1427120, + HGNC:20764, + HGNC_symbol:PLEKHF1 ; biolink:category biolink:Gene . OMIM:615201 a owl:Class ; rdfs:label "MIR1909" ; IAO:0000142 PMID:18583537, PMID:21042738 ; - oboInOwl:hasDbXref UMLS:C2681815 ; oboInOwl:hasExactSynonym "MIR1909", "micro RNA 1909", "mirna1909" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100302210 ; - skos:exactMatch HGNC_symbol:MIR1909 ; + skos:exactMatch UMLS:C2681815, + HGNC:35393, + HGNC_symbol:MIR1909 ; biolink:category biolink:Gene . OMIM:615202 a owl:Class ; rdfs:label "MIR1915" ; IAO:0000142 PMID:18583537, PMID:21042738 ; - oboInOwl:hasDbXref UMLS:C2681821 ; oboInOwl:hasExactSynonym "MIR1915", "micro RNA 1915", "mirna1915" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100302129 ; - skos:exactMatch HGNC_symbol:MIR1915 ; + skos:exactMatch UMLS:C2681821, + HGNC:35399, + HGNC_symbol:MIR1915 ; biolink:category biolink:Gene . OMIM:615203 a owl:Class ; rdfs:label "RHBDD2" ; IAO:0000142 PMID:19616622, PMID:23386608 ; - oboInOwl:hasDbXref UMLS:C1826823 ; oboInOwl:hasExactSynonym "RHBDD2", "rhomboid domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57414 ; - skos:exactMatch HGNC_symbol:RHBDD2 ; + skos:exactMatch UMLS:C1826823, + HGNC:23082, + HGNC_symbol:RHBDD2 ; biolink:category biolink:Gene . OMIM:615204 a owl:Class ; @@ -333105,25 +346984,27 @@ OMIM:615204 a owl:Class ; PMID:29917077 ; RO:0002525 CHR:9606chr10q24.33 ; RO:0003303 OMIM:618683 ; - oboInOwl:hasDbXref UMLS:C1429011 ; oboInOwl:hasExactSynonym "ATP5MD", "atp synthase membrane subunit dapit", "diabetes-associated protein 1n insulin-sensitive tissues", "upregulated during skeletal muscle growth 5, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84833 ; - skos:exactMatch HGNC_symbol:ATP5MK ; + skos:exactMatch UMLS:C1429011, + HGNC:30889, + HGNC_symbol:ATP5MK ; biolink:category biolink:Gene . OMIM:615205 a owl:Class ; rdfs:label "SPINK13" ; IAO:0000142 PMID:23430248 ; - oboInOwl:hasDbXref UMLS:C2828722 ; oboInOwl:hasExactSynonym "SPINK13", "serine protease inhibitor, kazal-type, 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153218 ; - skos:exactMatch HGNC_symbol:SPINK13 ; + skos:exactMatch UMLS:C2828722, + HGNC:27200, + HGNC_symbol:SPINK13 ; biolink:category biolink:Gene . OMIM:615206 a owl:Class ; @@ -333131,22 +347012,22 @@ OMIM:615206 a owl:Class ; IAO:0000142 PMID:12818158, PMID:23374270, PMID:23561803 ; - oboInOwl:hasDbXref UMLS:C3554686 ; oboInOwl:hasExactSynonym "IMD11A", "card11 immunodeficiency", "immunodeficiency 11" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3554686 ; biolink:category biolink:Disease . OMIM:615207 a owl:Class ; rdfs:label "immunodeficiency 56" ; IAO:0000142 PMID:23440042, PMID:25398835 ; - oboInOwl:hasDbXref UMLS:C3554687 ; oboInOwl:hasExactSynonym "IMD56", "il21r immunodeficiency", "immunodeficiency 56" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3554687 ; biolink:category biolink:Disease . OMIM:615208 a owl:Class ; @@ -333154,7 +347035,6 @@ OMIM:615208 a owl:Class ; IAO:0000142 PMID:18288467, PMID:19995552, PMID:22816767 ; - oboInOwl:hasDbXref UMLS:C1427114 ; oboInOwl:hasExactSynonym "PLEKHF2", "endoplasmic reticulum-associated apoptosis-involved protein containing ph and fyve domains", "ph and fyve domains-containing protein 2", @@ -333162,14 +347042,15 @@ OMIM:615208 a owl:Class ; "pleckstrin homology domain-containing protein, family f, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79666 ; - skos:exactMatch HGNC_symbol:PLEKHF2 ; + skos:exactMatch UMLS:C1427114, + HGNC:20757, + HGNC_symbol:PLEKHF2 ; biolink:category biolink:Gene . OMIM:615209 a owl:Class ; rdfs:label "MIR149" ; IAO:0000142 PMID:20623644, PMID:22821729 ; - oboInOwl:hasDbXref UMLS:C1537804 ; oboInOwl:hasExactSynonym "MIR149", "micro RNA 149", "micro RNA 149*", @@ -333178,18 +347059,21 @@ OMIM:615209 a owl:Class ; "mirna149" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406941 ; - skos:exactMatch HGNC_symbol:MIR149 ; + skos:exactMatch UMLS:C1537804, + HGNC:31536, + HGNC_symbol:MIR149 ; biolink:category biolink:Gene . OMIM:615210 a owl:Class ; rdfs:label "PCNP" ; IAO:0000142 PMID:12176013 ; - oboInOwl:hasDbXref UMLS:C1826551 ; oboInOwl:hasExactSynonym "PCNP", "pest-containing nuclear protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57092 ; - skos:exactMatch HGNC_symbol:PCNP ; + skos:exactMatch UMLS:C1826551, + HGNC:30023, + HGNC_symbol:PCNP ; biolink:category biolink:Gene . OMIM:615211 a owl:Class ; @@ -333198,86 +347082,92 @@ OMIM:615211 a owl:Class ; PMID:14741369, PMID:23404503, PMID:27129234 ; - oboInOwl:hasDbXref UMLS:C1421349 ; oboInOwl:hasExactSynonym "UHRF2", "np95/icbp90-like ring finger protein", "ubiquitin-like protein containing phd and ring finger domains 2, e3 ubiquitin protein ligase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115426 ; - skos:exactMatch HGNC_symbol:UHRF2 ; + skos:exactMatch UMLS:C1421349, + HGNC:12557, + HGNC_symbol:UHRF2 ; biolink:category biolink:Gene . OMIM:615212 a owl:Class ; rdfs:label "LRRC38" ; IAO:0000142 PMID:22547800 ; - oboInOwl:hasDbXref UMLS:C1825885 ; oboInOwl:hasExactSynonym "LRRC38", "bk channel, auxiliary gamma subunit 4", "leucine-rich repeat-containing protein 38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126755 ; - skos:exactMatch HGNC_symbol:LRRC38 ; + skos:exactMatch UMLS:C1825885, + HGNC:27005, + HGNC_symbol:LRRC38 ; biolink:category biolink:Gene . OMIM:615213 a owl:Class ; rdfs:label "LRRC55" ; IAO:0000142 PMID:22547800 ; - oboInOwl:hasDbXref UMLS:C1825900 ; oboInOwl:hasExactSynonym "LRRC55", "bk channel, auxiliary gamma subunit 3", "leucine-rich repeat-containing protein 55" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219527 ; - skos:exactMatch HGNC_symbol:LRRC55 ; + skos:exactMatch UMLS:C1825900, + HGNC:32324, + HGNC_symbol:LRRC55 ; biolink:category biolink:Gene . OMIM:615214 a owl:Class ; rdfs:label "agammaglobulinemia 7, autosomal recessive" ; IAO:0000142 PMID:22351933, PMID:7705412 ; - oboInOwl:hasDbXref UMLS:C3554689 ; oboInOwl:hasExactSynonym "AGM7", "agammaglobulinemia 7, autosomal recessive", "agammaglobulinemia, autosomal recessive, due to pik3r1 defect" ; rdfs:subClassOf OMIMPS:601495 ; + skos:exactMatch UMLS:C3554689 ; biolink:category biolink:Disease . OMIM:615215 a owl:Class ; rdfs:label "KCNU1" ; IAO:0000142 PMID:23129643, PMID:9452476 ; - oboInOwl:hasDbXref UMLS:C1425838 ; oboInOwl:hasExactSynonym "KCNU1", "potassium channel, subfamily u, member 1", "slowpoke, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157855 ; - skos:exactMatch HGNC_symbol:KCNU1 ; + skos:exactMatch UMLS:C1425838, + HGNC:18867, + HGNC_symbol:KCNU1 ; biolink:category biolink:Gene . OMIM:615216 a owl:Class ; rdfs:label "KIFC2" ; IAO:0000142 PMID:11259594, PMID:9115737 ; - oboInOwl:hasDbXref UMLS:C1428868 ; oboInOwl:hasExactSynonym "KIFC2", "kinesin family member c2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90990 ; - skos:exactMatch HGNC_symbol:KIFC2 ; + skos:exactMatch UMLS:C1428868, + HGNC:29530, + HGNC_symbol:KIFC2 ; biolink:category biolink:Gene . OMIM:615218 a owl:Class ; rdfs:label "LRRC52" ; IAO:0000142 PMID:22547800, PMID:23129643 ; - oboInOwl:hasDbXref UMLS:C1825899 ; oboInOwl:hasExactSynonym "LRRC52", "bk channel, auxiliary gamma subunit 2", "leucine-rich repeat-containing protein 52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440699 ; - skos:exactMatch HGNC_symbol:LRRC52 ; + skos:exactMatch UMLS:C1825899, + HGNC:32156, + HGNC_symbol:LRRC52 ; biolink:category biolink:Gene . OMIM:615220 a owl:Class ; @@ -333290,25 +347180,26 @@ OMIM:615220 a owl:Class ; PMID:24634143, PMID:26671912, PMID:458828 ; - oboInOwl:hasDbXref UMLS:C3808844 ; oboInOwl:hasExactSynonym "OI15", "oi, iia 15", "osteogenesis imperfecta, iia 15" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C3808844 ; biolink:category biolink:Disease . OMIM:615223 a owl:Class ; rdfs:label "IFNE" ; IAO:0000142 PMID:15233997, PMID:23449591 ; - oboInOwl:hasDbXref UMLS:C2681609 ; oboInOwl:hasExactSynonym "IFNE", "ifne1", "interferon, epsilon", "interferon, tau-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338376 ; - skos:exactMatch HGNC_symbol:IFNE ; + skos:exactMatch UMLS:C2681609, + HGNC:18163, + HGNC_symbol:IFNE ; biolink:category biolink:Gene . OMIM:615227 a owl:Class ; @@ -333316,14 +347207,15 @@ OMIM:615227 a owl:Class ; IAO:0000142 PMID:21262840, PMID:21378161, PMID:27478018 ; - oboInOwl:hasDbXref UMLS:C1538977 ; oboInOwl:hasExactSynonym "C1QL3", "c1q/tnf-related protein 13", "complement component 1, q subcomponent-like 3", "k100" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389941 ; - skos:exactMatch HGNC_symbol:C1QL3 ; + skos:exactMatch UMLS:C1538977, + HGNC:19359, + HGNC_symbol:C1QL3 ; biolink:category biolink:Gene . OMIM:615229 a owl:Class ; @@ -333331,19 +347223,19 @@ OMIM:615229 a owl:Class ; IAO:0000142 PMID:21262840, PMID:23449976, PMID:27478018 ; - oboInOwl:hasDbXref UMLS:C1538978 ; oboInOwl:hasExactSynonym "C1QL4", "c1q/tnf-related protein 11", "complement component 1, q subcomponent-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338761 ; - skos:exactMatch HGNC_symbol:C1QL4 ; + skos:exactMatch UMLS:C1538978, + HGNC:31416, + HGNC_symbol:C1QL4 ; biolink:category biolink:Gene . OMIM:615230 a owl:Class ; rdfs:label "LINC01080" ; IAO:0000142 PMID:23065742 ; - oboInOwl:hasDbXref UMLS:C3808912 ; oboInOwl:hasExactSynonym "LINC01080", "lincrna tcons_00021856", "lncrna tcons_00021856", @@ -333352,7 +347244,9 @@ OMIM:615230 a owl:Class ; "tcons_00021856" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101515984 ; - skos:exactMatch HGNC_symbol:LINC01080 ; + skos:exactMatch UMLS:C3808912, + HGNC:49123, + HGNC_symbol:LINC01080 ; biolink:category biolink:Gene . OMIM:615231 a owl:Class ; @@ -333361,21 +347255,22 @@ OMIM:615231 a owl:Class ; PMID:23583642, PMID:23583643, PMID:23601678 ; - oboInOwl:hasDbXref UMLS:C1537928 ; oboInOwl:hasExactSynonym "RC3H2", "membrane-associated nucleic acid-binding protein", "ring finger and ccch-type zinc finger domains-containing protein 2", "roquin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54542 ; - skos:exactMatch HGNC_symbol:RC3H2 ; + skos:exactMatch UMLS:C1537928, + HGNC:21461, + HGNC_symbol:RC3H2 ; biolink:category biolink:Gene . OMIM:615236 a owl:Class ; rdfs:label "woods syndrome" ; IAO:0000142 PMID:1640433 ; - oboInOwl:hasDbXref UMLS:C0796203 ; - oboInOwl:hasExactSynonym "woods syndrome" . + oboInOwl:hasExactSynonym "woods syndrome" ; + skos:exactMatch UMLS:C0796203 . OMIM:615239 a owl:Class ; rdfs:label "MIR7-1" ; @@ -333384,37 +347279,40 @@ OMIM:615239 a owl:Class ; PMID:23446348, PMID:26801612, PMID:32852789 ; - oboInOwl:hasDbXref UMLS:C1537701 ; oboInOwl:hasExactSynonym "MIR7-1", "micro RNA 7-1", "mir7", "mirna7-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407043 ; - skos:exactMatch HGNC_symbol:MIR7-1 ; + skos:exactMatch UMLS:C1537701, + HGNC:31638, + HGNC_symbol:MIR7-1 ; biolink:category biolink:Gene . OMIM:615240 a owl:Class ; rdfs:label "KCTD15" ; IAO:0000142 PMID:23382213 ; - oboInOwl:hasDbXref UMLS:C1428029 ; oboInOwl:hasExactSynonym "KCTD15", "potassium channel tetramerization domain-containing protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79047 ; - skos:exactMatch HGNC_symbol:KCTD15 ; + skos:exactMatch UMLS:C1428029, + HGNC:23297, + HGNC_symbol:KCTD15 ; biolink:category biolink:Gene . OMIM:615241 a owl:Class ; rdfs:label "TINCR" ; IAO:0000142 PMID:23201690 ; - oboInOwl:hasDbXref UMLS:C1422787 ; oboInOwl:hasExactSynonym "TINCR", "terminal differentiation-induced noncoding RNA", "tissue differentiation-inducing noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257000 ; - skos:exactMatch HGNC_symbol:TINCR ; + skos:exactMatch UMLS:C1422787, + HGNC:14607, + HGNC_symbol:TINCR ; biolink:category biolink:Gene . OMIM:615242 a owl:Class ; @@ -333424,48 +347322,52 @@ OMIM:615242 a owl:Class ; PMID:23563608 ; RO:0002525 CHR:9606chr1p36.32 ; RO:0003303 OMIM:615264 ; - oboInOwl:hasDbXref UMLS:C3543515 ; oboInOwl:hasExactSynonym "SMIM1", "small integral membrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388588 ; - skos:exactMatch HGNC_symbol:SMIM1 ; + skos:exactMatch UMLS:C3543515, + HGNC:44204, + HGNC_symbol:SMIM1 ; biolink:category biolink:Gene . OMIM:615243 a owl:Class ; rdfs:label "DEFB114" ; IAO:0000142 PMID:11854508, PMID:23482568 ; - oboInOwl:hasDbXref UMLS:C1425303 ; oboInOwl:hasExactSynonym "DEFB114", "defensin, beta, 114", "defensin, beta, 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245928 ; - skos:exactMatch HGNC_symbol:DEFB114 ; + skos:exactMatch UMLS:C1425303, + HGNC:18095, + HGNC_symbol:DEFB114 ; biolink:category biolink:Gene . OMIM:615245 a owl:Class ; rdfs:label "MIR671" ; IAO:0000142 PMID:21964070 ; - oboInOwl:hasDbXref UMLS:C1826244 ; oboInOwl:hasExactSynonym "MIR671", "micro RNA 671", "mirna671" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:768213 ; - skos:exactMatch HGNC_symbol:MIR671 ; + skos:exactMatch UMLS:C1826244, + HGNC:33134, + HGNC_symbol:MIR671 ; biolink:category biolink:Gene . OMIM:615246 a owl:Class ; rdfs:label "ZBED2" ; IAO:0000142 PMID:23533661 ; - oboInOwl:hasDbXref UMLS:C1427087 ; oboInOwl:hasExactSynonym "ZBED2", "zinc finger bed domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79413 ; - skos:exactMatch HGNC_symbol:ZBED2 ; + skos:exactMatch UMLS:C1427087, + HGNC:20710, + HGNC_symbol:ZBED2 ; biolink:category biolink:Gene . OMIM:615247 a owl:Class ; @@ -333477,14 +347379,15 @@ OMIM:615247 a owl:Class ; PMID:24925318 ; RO:0002525 CHR:9606chr8p11.21 ; RO:0003303 OMIM:615249 ; - oboInOwl:hasDbXref UMLS:C3808960 ; oboInOwl:hasExactSynonym "POMK", "protein kinase-like protein sgk196", "protein-o-mannose kinase", "sugen kinase 196" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84197 ; - skos:exactMatch HGNC_symbol:POMK ; + skos:exactMatch UMLS:C3808960, + HGNC:26267, + HGNC_symbol:POMK ; biolink:category biolink:Gene . OMIM:615248 a owl:Class ; @@ -333492,9 +347395,6 @@ OMIM:615248 a owl:Class ; IAO:0000142 PMID:18006477, PMID:22286171, PMID:22892539 ; - oboInOwl:hasDbXref UMLS:C3714995, - UMLS:C3714998, - UMLS:C3808963 ; oboInOwl:hasExactSynonym "CMD1KK", "cardiomyopathy, dilated, 1kk", "cardiomyopathy, familial hypertrophic, 22", @@ -333502,61 +347402,68 @@ OMIM:615248 a owl:Class ; rdfs:subClassOf OMIMPS:115200, OMIMPS:115210, OMIMPS:192600 ; + skos:exactMatch UMLS:C3714995, + UMLS:C3714998, + UMLS:C3808963 ; biolink:category biolink:Disease . OMIM:615250 a owl:Class ; rdfs:label "ZBED3" ; IAO:0000142 PMID:19141611, PMID:23533661 ; - oboInOwl:hasDbXref UMLS:C1427088 ; oboInOwl:hasExactSynonym "ZBED3", "zinc finger bed domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84327 ; - skos:exactMatch HGNC_symbol:ZBED3 ; + skos:exactMatch UMLS:C1427088, + HGNC:20711, + HGNC_symbol:ZBED3 ; biolink:category biolink:Gene . OMIM:615251 a owl:Class ; rdfs:label "ZBED5" ; IAO:0000142 PMID:23533661 ; - oboInOwl:hasDbXref UMLS:C1823900 ; oboInOwl:hasExactSynonym "ZBED5", "buster1", "zinc finger bed domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58486 ; - skos:exactMatch HGNC_symbol:ZBED5 ; + skos:exactMatch UMLS:C1823900, + HGNC:30803, + HGNC_symbol:ZBED5 ; biolink:category biolink:Gene . OMIM:615252 a owl:Class ; rdfs:label "ZBED6CL" ; IAO:0000142 PMID:23533661 ; - oboInOwl:hasDbXref UMLS:C3808965 ; oboInOwl:hasExactSynonym "ZBED6CL", "chromosome 7 open reading frame 29", "zbed6 c terminus-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113763 ; + skos:exactMatch UMLS:C3808965, + HGNC:21720, + HGNC_symbol:ZBED10P ; biolink:category biolink:Gene . OMIM:615253 a owl:Class ; rdfs:label "ZBED8" ; IAO:0000142 PMID:23533661 ; - oboInOwl:hasDbXref UMLS:C2681239 ; oboInOwl:hasExactSynonym "ZBED8", "buster3", "chromosome 5 open reading frame 54", "zinc finger bed domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63920 ; - skos:exactMatch HGNC_symbol:ZBED8 ; + skos:exactMatch UMLS:C2681239, + HGNC:30804, + HGNC_symbol:ZBED8 ; biolink:category biolink:Gene . OMIM:615254 a owl:Class ; rdfs:label "SCAND3" ; IAO:0000142 PMID:11572484, PMID:23533661 ; - oboInOwl:hasDbXref UMLS:C1422235 ; oboInOwl:hasExactSynonym "SCAND3", "buster4", "kiaa1925", @@ -333564,19 +347471,22 @@ OMIM:615254 a owl:Class ; "zinc finger bed domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114821 ; - skos:exactMatch HGNC_symbol:ZBED9 ; + skos:exactMatch UMLS:C1422235, + HGNC:13851, + HGNC_symbol:ZBED9 ; biolink:category biolink:Gene . OMIM:615255 a owl:Class ; rdfs:label "METTL18" ; IAO:0000142 PMID:23349634 ; - oboInOwl:hasDbXref UMLS:C1823772 ; oboInOwl:hasExactSynonym "METTL18", "chromosome 1 open reading frame 156", "methyltransferase-like 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92342 ; - skos:exactMatch HGNC_symbol:METTL18 ; + skos:exactMatch UMLS:C1823772, + HGNC:28793, + HGNC_symbol:METTL18 ; biolink:category biolink:Gene . OMIM:615256 a owl:Class ; @@ -333584,7 +347494,6 @@ OMIM:615256 a owl:Class ; IAO:0000142 PMID:23349634, PMID:25023281, PMID:25416781 ; - oboInOwl:hasDbXref UMLS:C2681279 ; oboInOwl:hasExactSynonym "ETFBKMT", "chromosome 12 open reading frame 72", "electron transfer flavoprotein beta-subunit lysine methyltransferase", @@ -333592,73 +347501,80 @@ OMIM:615256 a owl:Class ; "methyltransferase-like 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254013 ; - skos:exactMatch HGNC_symbol:ETFBKMT ; + skos:exactMatch UMLS:C2681279, + HGNC:28739, + HGNC_symbol:ETFBKMT ; biolink:category biolink:Gene . OMIM:615257 a owl:Class ; rdfs:label "METTL21A" ; IAO:0000142 PMID:23349634, PMID:25144183 ; - oboInOwl:hasDbXref UMLS:C1825253 ; oboInOwl:hasExactSynonym "METTL21A", "family with sequence similarity 119, member a", "methyltransferase 21a, hspa lysine", "methyltransferase-like 21a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151194 ; - skos:exactMatch HGNC_symbol:METTL21A ; + skos:exactMatch UMLS:C1825253, + HGNC:30476, + HGNC_symbol:METTL21A ; biolink:category biolink:Gene . OMIM:615258 a owl:Class ; rdfs:label "EEF1AKMT3" ; IAO:0000142 PMID:23349634 ; - oboInOwl:hasDbXref UMLS:C1825254 ; oboInOwl:hasExactSynonym "EEF1AKMT3", "eef1a lysine methyltransferase 3", "family with sequence similarity 119, member B", "methyltransferase-like 21b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25895 ; - skos:exactMatch HGNC_symbol:EEF1AKMT3 ; + skos:exactMatch UMLS:C1825254, + HGNC:24936, + HGNC_symbol:EEF1AKMT3 ; biolink:category biolink:Gene . OMIM:615259 a owl:Class ; rdfs:label "METTL21C" ; IAO:0000142 PMID:23349634 ; - oboInOwl:hasDbXref UMLS:C2681286 ; oboInOwl:hasExactSynonym "METTL21C", "chromosome 13 open reading frame 39", "methyltransferase 21c, aars1 lysine", "methyltransferase-like 21c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196541 ; - skos:exactMatch HGNC_symbol:METTL21C ; + skos:exactMatch UMLS:C2681286, + HGNC:33717, + HGNC_symbol:METTL21C ; biolink:category biolink:Gene . OMIM:615260 a owl:Class ; rdfs:label "VCPKMT" ; IAO:0000142 PMID:23349634 ; - oboInOwl:hasDbXref UMLS:C3147805 ; oboInOwl:hasExactSynonym "VCPKMT", "chromosome 14 open reading frame 138", "methyltransferase-like 21d", "valosin-containing protein lysine methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79609 ; - skos:exactMatch HGNC_symbol:VCPKMT ; + skos:exactMatch UMLS:C3147805, + HGNC:20352, + HGNC_symbol:VCPKMT ; biolink:category biolink:Gene . OMIM:615261 a owl:Class ; rdfs:label "METTL22" ; IAO:0000142 PMID:23349634 ; - oboInOwl:hasDbXref UMLS:C1824421 ; oboInOwl:hasExactSynonym "METTL22", "chromosome 16 open reading frame 68", "methyltransferase 22, kin27 lysine", "methyltransferase-like 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79091 ; - skos:exactMatch HGNC_symbol:METTL22 ; + skos:exactMatch UMLS:C1824421, + HGNC:28368, + HGNC_symbol:METTL22 ; biolink:category biolink:Gene . OMIM:615262 a owl:Class ; @@ -333668,27 +347584,29 @@ OMIM:615262 a owl:Class ; PMID:24626631 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:615942 ; - oboInOwl:hasDbXref UMLS:C2681299 ; oboInOwl:hasExactSynonym "METTL23", "chromosome 17 open reading frame 95", "methyltransferase-like 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124512 ; - skos:exactMatch HGNC_symbol:METTL23 ; + skos:exactMatch UMLS:C2681299, + HGNC:26988, + HGNC_symbol:METTL23 ; biolink:category biolink:Gene . OMIM:615263 a owl:Class ; rdfs:label "EEF2KMT" ; IAO:0000142 PMID:23349634, PMID:25231979 ; - oboInOwl:hasDbXref UMLS:C1825173 ; oboInOwl:hasExactSynonym "EEF2KMT", "eef2 lysine methyltransferase", "eukaryotic elongation factor 2 lysine methyltransferase", "family with sequence similarity 86, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196483 ; - skos:exactMatch HGNC_symbol:EEF2KMT ; + skos:exactMatch UMLS:C1825173, + HGNC:32221, + HGNC_symbol:EEF2KMT ; biolink:category biolink:Gene . OMIM:615265 a owl:Class ; @@ -333697,23 +347615,24 @@ OMIM:615265 a owl:Class ; PMID:10744724, PMID:23703728, PMID:9777341 ; - oboInOwl:hasDbXref UMLS:C1426386 ; oboInOwl:hasExactSynonym "FNBP4", "fbp30", "formin-binding protein 4", "kiaa1014" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23360 ; - skos:exactMatch HGNC_symbol:FNBP4 ; + skos:exactMatch UMLS:C1426386, + HGNC:19752, + HGNC_symbol:FNBP4 ; biolink:category biolink:Gene . OMIM:615272 a owl:Class ; rdfs:label "fanconi anemia, complementation group q" ; IAO:0000142 PMID:23623386 ; - oboInOwl:hasDbXref UMLS:C3808988 ; oboInOwl:hasExactSynonym "FANCQ", "fanconi anemia, complementation group q" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C3808988 ; biolink:category biolink:Disease . OMIM:615275 a owl:Class ; @@ -333721,13 +347640,14 @@ OMIM:615275 a owl:Class ; IAO:0000142 PMID:21424586, PMID:23610393, PMID:32703879 ; - oboInOwl:hasDbXref UMLS:C2239547 ; oboInOwl:hasExactSynonym "ACOD1", "aconitate decarboxylase 1", "immunoresponsive gene 1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:730249 ; - skos:exactMatch HGNC_symbol:ACOD1 ; + skos:exactMatch UMLS:C2239547, + HGNC:33904, + HGNC_symbol:ACOD1 ; biolink:category biolink:Gene . OMIM:615276 a owl:Class ; @@ -333738,13 +347658,14 @@ OMIM:615276 a owl:Class ; PMID:26045466 ; RO:0002525 CHR:9606chr15q26.3 ; RO:0003303 OMIM:615023 ; - oboInOwl:hasDbXref UMLS:C3469889 ; oboInOwl:hasExactSynonym "CERS3", "ceramide synthase 3", "lag1, s. cerevisiae, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:204219 ; - skos:exactMatch HGNC_symbol:CERS3 ; + skos:exactMatch UMLS:C3469889, + HGNC:23752, + HGNC_symbol:CERS3 ; biolink:category biolink:Gene . OMIM:615278 a owl:Class ; @@ -333754,11 +347675,11 @@ OMIM:615278 a owl:Class ; PMID:17437909, PMID:21797849, PMID:9272711 ; - oboInOwl:hasDbXref UMLS:C3809005, - ORPHA:1340 ; oboInOwl:hasExactSynonym "CFC2", "cardiofaciocutaneous syndrome 2" ; rdfs:subClassOf OMIMPS:115150 ; + skos:exactMatch UMLS:C3809005, + ORPHA:1340 ; biolink:category biolink:Disease . OMIM:615279 a owl:Class ; @@ -333766,11 +347687,11 @@ OMIM:615279 a owl:Class ; IAO:0000142 PMID:16439621, PMID:17551924, PMID:18042262 ; - oboInOwl:hasDbXref UMLS:C3809006, - ORPHA:1340 ; oboInOwl:hasExactSynonym "CFC3", "cardiofaciocutaneous syndrome 3" ; rdfs:subClassOf OMIMPS:115150 ; + skos:exactMatch UMLS:C3809006, + ORPHA:1340 ; biolink:category biolink:Disease . OMIM:615283 a owl:Class ; @@ -333782,16 +347703,17 @@ OMIM:615283 a owl:Class ; PMID:32103185 ; RO:0002525 CHR:9606chr1q42.2 ; RO:0003303 OMIM:619076 ; - oboInOwl:hasDbXref UMLS:C1428397, - UMLS:C2986382, - UMLS:C5436747 ; oboInOwl:hasExactSynonym "EXOC8", "exocyst complex component 8", "exocyst complex, 84-kd subunit", "sec84, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149371 ; - skos:exactMatch HGNC_symbol:EXOC8 ; + skos:exactMatch UMLS:C1428397, + UMLS:C2986382, + UMLS:C5436747, + HGNC:24659, + HGNC_symbol:EXOC8 ; biolink:category biolink:Gene . OMIM:615288 a owl:Class ; @@ -333800,8 +347722,6 @@ OMIM:615288 a owl:Class ; PMID:23354437 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:615294 ; - oboInOwl:hasDbXref UMLS:C1824106, - UMLS:C3809087 ; oboInOwl:hasExactSynonym "DRC1", "chromosome 2 open reading frame 39", "coiled-coil domain-containing protein 164", @@ -333809,21 +347729,25 @@ OMIM:615288 a owl:Class ; "dynein regulatory complex, subunit 1, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92749 ; - skos:exactMatch HGNC_symbol:DRC1 ; + skos:exactMatch UMLS:C1824106, + UMLS:C3809087, + HGNC:24245, + HGNC_symbol:DRC1 ; biolink:category biolink:Gene . OMIM:615289 a owl:Class ; rdfs:label "MISP" ; IAO:0000142 PMID:23509069, PMID:23574715 ; - oboInOwl:hasDbXref UMLS:C1428639 ; oboInOwl:hasExactSynonym "MISP", "chromosome 19 open reading frame 21", "mitotic interactor and substrate of plk1", "mitotic spindle-positioning protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126353 ; - skos:exactMatch HGNC_symbol:MISP ; + skos:exactMatch UMLS:C1428639, + HGNC:27000, + HGNC_symbol:MISP ; biolink:category biolink:Gene . OMIM:615290 a owl:Class ; @@ -333837,12 +347761,12 @@ OMIM:615290 a owl:Class ; PMID:29528393, PMID:8114789, PMID:9713859 ; - oboInOwl:hasDbXref UMLS:C4747715, - ORPHA:363447, - ORPHA:363454 ; oboInOwl:hasExactSynonym "SMALED2A", "spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant" ; rdfs:subClassOf OMIMPS:158600 ; + skos:exactMatch UMLS:C4747715, + ORPHA:363447, + ORPHA:363454 ; biolink:category biolink:Disease . OMIM:615291 a owl:Class ; @@ -333859,11 +347783,6 @@ OMIM:615291 a owl:Class ; PMID:9892646 ; RO:0002525 CHR:9606chr1p36.33 ; RO:0003303 OMIM:271640 ; - oboInOwl:hasDbXref UMLS:C1425214, - UMLS:C1836121, - UMLS:C3809210, - UMLS:C4017377, - UMLS:C4017378 ; oboInOwl:hasExactSynonym "B3GALT6", "beta-1,3-galactosyltransferase 6", "beta-3-galt6", @@ -333871,7 +347790,13 @@ OMIM:615291 a owl:Class ; "udp-gal:beta-gal beta-1,3-galactosyltransferase, polypeptide 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126792 ; - skos:exactMatch HGNC_symbol:B3GALT6 ; + skos:exactMatch UMLS:C1425214, + UMLS:C1836121, + UMLS:C3809210, + UMLS:C4017377, + UMLS:C4017378, + HGNC:17978, + HGNC_symbol:B3GALT6 ; biolink:category biolink:Gene . OMIM:615292 a owl:Class ; @@ -333882,35 +347807,37 @@ OMIM:615292 a owl:Class ; PMID:23996431 ; RO:0002525 CHR:9606chr11q12.1 ; RO:0003303 OMIM:127000 ; - oboInOwl:hasDbXref UMLS:C1825241 ; oboInOwl:hasExactSynonym "FAM111A", "family with sequence similarity 111, member a", "kiaa1895" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63901 ; - skos:exactMatch HGNC_symbol:FAM111A ; + skos:exactMatch UMLS:C1825241, + HGNC:24725, + HGNC_symbol:FAM111A ; biolink:category biolink:Gene . OMIM:615293 a owl:Class ; rdfs:label "myofibromatosis, infantile, 2" ; IAO:0000142 PMID:23731542 ; - oboInOwl:hasDbXref UMLS:C3809084 ; oboInOwl:hasExactSynonym "IMF2", "myofibromatosis, infantile, 2" ; rdfs:subClassOf OMIMPS:228550 ; + skos:exactMatch UMLS:C3809084 ; biolink:category biolink:Disease . OMIM:615295 a owl:Class ; rdfs:label "USP34" ; IAO:0000142 PMID:21383061, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1426654 ; oboInOwl:hasExactSynonym "USP34", "kiaa0570", "ubiquitin-specific protease 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9736 ; - skos:exactMatch HGNC_symbol:USP34 ; + skos:exactMatch UMLS:C1426654, + HGNC:20066, + HGNC_symbol:USP34 ; biolink:category biolink:Gene . OMIM:615296 a owl:Class ; @@ -333918,7 +347845,6 @@ OMIM:615296 a owl:Class ; IAO:0000142 PMID:11278614, PMID:11991722, PMID:22315422 ; - oboInOwl:hasDbXref UMLS:C1423572 ; oboInOwl:hasExactSynonym "IL1F10", "family of interleukin 1-theta", "fil1-theta", @@ -333927,7 +347853,9 @@ OMIM:615296 a owl:Class ; "interleukin 38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84639 ; - skos:exactMatch HGNC_symbol:IL1F10 ; + skos:exactMatch UMLS:C1423572, + HGNC:15552, + HGNC_symbol:IL1F10 ; biolink:category biolink:Gene . OMIM:615298 a owl:Class ; @@ -333935,35 +347863,37 @@ OMIM:615298 a owl:Class ; IAO:0000142 PMID:16127465, PMID:16892395, PMID:18283415 ; - oboInOwl:hasDbXref UMLS:C3809104, - ORPHA:3250 ; oboInOwl:hasExactSynonym "SYM1B", "symphalangism, proximal, 1b" ; rdfs:subClassOf OMIMPS:185800 ; + skos:exactMatch UMLS:C3809104, + ORPHA:3250 ; biolink:category biolink:Disease . OMIM:615299 a owl:Class ; rdfs:label "NXNL2" ; IAO:0000142 PMID:17764561, PMID:22343139 ; - oboInOwl:hasDbXref UMLS:C2239791 ; oboInOwl:hasExactSynonym "NXNL2", "nucleoredoxin-like protein 2", "rod-derived cone viability factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158046 ; - skos:exactMatch HGNC_symbol:NXNL2 ; + skos:exactMatch UMLS:C2239791, + HGNC:30482, + HGNC_symbol:NXNL2 ; biolink:category biolink:Gene . OMIM:615301 a owl:Class ; rdfs:label "TMEM214" ; IAO:0000142 PMID:23661706 ; - oboInOwl:hasDbXref UMLS:C2680480 ; oboInOwl:hasExactSynonym "TMEM214", "transmembrane protein 214" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54867 ; - skos:exactMatch HGNC_symbol:TMEM214 ; + skos:exactMatch UMLS:C2680480, + HGNC:25983, + HGNC_symbol:TMEM214 ; biolink:category biolink:Gene . OMIM:615302 a owl:Class ; @@ -333974,110 +347904,117 @@ OMIM:615302 a owl:Class ; PMID:29796286 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:615286 ; - oboInOwl:hasDbXref UMLS:C2239292 ; oboInOwl:hasExactSynonym "ADAT3", "adenosine deaminase, trna-specific, 3", "tad3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113179 ; - skos:exactMatch HGNC_symbol:ADAT3 ; + skos:exactMatch UMLS:C2239292, + HGNC:25151, + HGNC_symbol:ADAT3 ; biolink:category biolink:Gene . OMIM:615303 a owl:Class ; rdfs:label "TRG-TCC1-1" ; IAO:0000142 PMID:1457046 ; - oboInOwl:hasDbXref UMLS:C1421119 ; oboInOwl:hasExactSynonym "TRG-TCC1-1", "transfer RNA glycine 3", "trna glycine (anticodon tcc) 1-1", "trna-gly (anticodon tcc) 1-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7197 ; - skos:exactMatch HGNC_symbol:TRG-TCC1-1 ; + skos:exactMatch UMLS:C1421119, + HGNC:12274, + HGNC_symbol:TRG-TCC1-1 ; biolink:category biolink:Gene . OMIM:615304 a owl:Class ; rdfs:label "TRV-CAC3-1" ; IAO:0000142 PMID:1457046 ; - oboInOwl:hasDbXref UMLS:C2681050 ; oboInOwl:hasExactSynonym "TRV-CAC3-1", "transfer RNA valine 32", "trna valine (anticodon cac) 3-1", "trna-val (anticodon cac) 3-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100189416 ; - skos:exactMatch HGNC_symbol:TRV-CAC3-1 ; + skos:exactMatch UMLS:C2681050, + HGNC:34985, + HGNC_symbol:TRV-CAC3-1 ; biolink:category biolink:Gene . OMIM:615305 a owl:Class ; rdfs:label "TRR-ACG1-2" ; IAO:0000142 PMID:1457046 ; - oboInOwl:hasDbXref UMLS:C1421179 ; oboInOwl:hasExactSynonym "TRR-ACG1-2", "transfer RNA arginine 2", "trna arginine (anticodon acg) 1-2", "trna-arg (anticodon acg) 1-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7231 ; - skos:exactMatch HGNC_symbol:TRR-ACG1-2 ; + skos:exactMatch UMLS:C1421179, + HGNC:12344, + HGNC_symbol:TRR-ACG1-2 ; biolink:category biolink:Gene . OMIM:615306 a owl:Class ; rdfs:label "TRV-CAC1-6" ; IAO:0000142 PMID:1457046 ; - oboInOwl:hasDbXref UMLS:C2681039 ; oboInOwl:hasExactSynonym "TRV-CAC1-6", "transfer RNA valine 21", "trna valine (anticodon cac) 1-6", "trna-val (anticodon cac) 1-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100189227 ; - skos:exactMatch HGNC_symbol:TRV-CAC1-6 ; + skos:exactMatch UMLS:C2681039, + HGNC:34790, + HGNC_symbol:TRV-CAC1-6 ; biolink:category biolink:Gene . OMIM:615307 a owl:Class ; rdfs:label "TRV-AAC5-1" ; IAO:0000142 PMID:1457046 ; - oboInOwl:hasDbXref UMLS:C2681030 ; oboInOwl:hasExactSynonym "TRV-AAC5-1", "transfer RNA valine 12", "trna valine (anticodon aac) 5-1", "trna-val (anticodon aac) 5-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100189014 ; - skos:exactMatch HGNC_symbol:TRV-AAC5-1 ; + skos:exactMatch UMLS:C2681030, + HGNC:34573, + HGNC_symbol:TRV-AAC5-1 ; biolink:category biolink:Gene . OMIM:615308 a owl:Class ; rdfs:label "TRV-AAC4-1" ; IAO:0000142 PMID:1457046 ; - oboInOwl:hasDbXref UMLS:C2681035 ; oboInOwl:hasExactSynonym "TRV-AAC4-1", "transfer RNA valine 17", "trna valine (anticodon aac) 4-1", "trna-val (anticodon aac) 4-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100189161 ; - skos:exactMatch HGNC_symbol:TRV-AAC4-1 ; + skos:exactMatch UMLS:C2681035, + HGNC:34723, + HGNC_symbol:TRV-AAC4-1 ; biolink:category biolink:Gene . OMIM:615309 a owl:Class ; rdfs:label "TRT-AGT2-2" ; IAO:0000142 PMID:1457046 ; - oboInOwl:hasDbXref UMLS:C2681016 ; oboInOwl:hasExactSynonym "TRT-AGT2-2", "transfer RNA threonine 15", "trna threonine (anticodon agt) 2-2", "trna-thr (anticodon agt) 2-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100189340 ; - skos:exactMatch HGNC_symbol:TRT-AGT2-2 ; + skos:exactMatch UMLS:C2681016, + HGNC:34908, + HGNC_symbol:TRT-AGT2-2 ; biolink:category biolink:Gene . OMIM:615310 a owl:Class ; rdfs:label "TRV-AAC1-1" ; IAO:0000142 PMID:1457046 ; - oboInOwl:hasDbXref UMLS:C2681042 ; oboInOwl:hasExactSynonym "TRV-AAC1-1", "transfer RNA valine (aac) 1-1", "transfer RNA valine 24", @@ -334085,42 +348022,46 @@ OMIM:615310 a owl:Class ; "trna-val (anticodon aac) 1-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100189318 ; - skos:exactMatch HGNC_symbol:TRV-AAC1-1 ; + skos:exactMatch UMLS:C2681042, + HGNC:34885, + HGNC_symbol:TRV-AAC1-1 ; biolink:category biolink:Gene . OMIM:615313 a owl:Class ; rdfs:label "B3GNT7" ; IAO:0000142 PMID:12061784, PMID:14706853 ; - oboInOwl:hasDbXref UMLS:C1425794 ; oboInOwl:hasExactSynonym "B3GNT7", "beta-1,3-n-acetylglucosaminyltransferase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93010 ; - skos:exactMatch HGNC_symbol:B3GNT7 ; + skos:exactMatch UMLS:C1425794, + HGNC:18811, + HGNC_symbol:B3GNT7 ; biolink:category biolink:Gene . OMIM:615314 a owl:Class ; rdfs:label "craniosynostosis 3" ; IAO:0000142 PMID:23354436, PMID:23438589 ; - oboInOwl:hasDbXref UMLS:C3715051, - ORPHA:35098, - ORPHA:35099 ; oboInOwl:hasExactSynonym "CRS3", "craniosynostosis 3" ; rdfs:subClassOf OMIMPS:123100 ; + skos:exactMatch UMLS:C3715051, + ORPHA:35098, + ORPHA:35099 ; biolink:category biolink:Disease . OMIM:615315 a owl:Class ; rdfs:label "B3GNT6" ; IAO:0000142 PMID:11821425 ; - oboInOwl:hasDbXref UMLS:C1423657 ; oboInOwl:hasExactSynonym "B3GNT6", "beta-1,3-n-acetylglucosaminyltransferase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:192134 ; - skos:exactMatch HGNC_symbol:B3GNT6 ; + skos:exactMatch UMLS:C1423657, + HGNC:24141, + HGNC_symbol:B3GNT6 ; biolink:category biolink:Gene . OMIM:615316 a owl:Class ; @@ -334135,14 +348076,15 @@ OMIM:615316 a owl:Class ; PMID:28913435 ; RO:0002525 CHR:9606chr1q42.13 ; RO:0003303 OMIM:615330 ; - oboInOwl:hasDbXref UMLS:C1823215 ; oboInOwl:hasExactSynonym "IBA57", "chromosome 1 open reading frame 69", "iba57, s. cerevisiae, homolog of", "iron-sulfur cluster assembly factor iba57" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200205 ; - skos:exactMatch HGNC_symbol:IBA57 ; + skos:exactMatch UMLS:C1823215, + HGNC:27302, + HGNC_symbol:IBA57 ; biolink:category biolink:Gene . OMIM:615317 a owl:Class ; @@ -334154,24 +348096,26 @@ OMIM:615317 a owl:Class ; PMID:29359243 ; RO:0002525 CHR:9606chr14q24.3 ; RO:0003303 OMIM:616370 ; - oboInOwl:hasDbXref UMLS:C2239551 ; oboInOwl:hasExactSynonym "ISCA2", "iron-sulfur cluster assembly 2", "iron-sulfur cluster assembly 2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122961 ; - skos:exactMatch HGNC_symbol:ISCA2 ; + skos:exactMatch UMLS:C2239551, + HGNC:19857, + HGNC_symbol:ISCA2 ; biolink:category biolink:Gene . OMIM:615318 a owl:Class ; rdfs:label "TMEM14C" ; IAO:0000142 PMID:19656490 ; - oboInOwl:hasDbXref UMLS:C1539991 ; oboInOwl:hasExactSynonym "TMEM14C", "transmembrane protein 14c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51522 ; - skos:exactMatch HGNC_symbol:TMEM14C ; + skos:exactMatch UMLS:C1539991, + HGNC:20952, + HGNC_symbol:TMEM14C ; biolink:category biolink:Gene . OMIM:615319 a owl:Class ; @@ -334179,14 +348123,15 @@ OMIM:615319 a owl:Class ; IAO:0000142 PMID:11116084, PMID:15937339, PMID:23447528 ; - oboInOwl:hasDbXref UMLS:C1825598 ; oboInOwl:hasExactSynonym "IMPACT", "impact rwd domain protein", "imprinted and ancient gene, mouse, homolog of", "rwd domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55364 ; - skos:exactMatch HGNC_symbol:IMPACT ; + skos:exactMatch UMLS:C1825598, + HGNC:20387, + HGNC_symbol:IMPACT ; biolink:category biolink:Gene . OMIM:615320 a owl:Class ; @@ -334198,30 +348143,32 @@ OMIM:615320 a owl:Class ; PMID:26133662 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:615352 ; - oboInOwl:hasDbXref UMLS:C1539586, - UMLS:C3714932, - UMLS:C3809216, - UMLS:C3809221 ; oboInOwl:hasExactSynonym "GMPPB", "gdp-mannose pyrophosphorylase B", "gdp-mannose pyrophosphorylase, beta subunit", "gmpp-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29925 ; - skos:exactMatch HGNC_symbol:GMPPB ; + skos:exactMatch UMLS:C1539586, + UMLS:C3714932, + UMLS:C3809216, + UMLS:C3809221, + HGNC:22932, + HGNC_symbol:GMPPB ; biolink:category biolink:Gene . OMIM:615321 a owl:Class ; rdfs:label "CLIC6" ; IAO:0000142 PMID:14597386 ; - oboInOwl:hasDbXref UMLS:C1413487 ; oboInOwl:hasExactSynonym "CLIC6", "chloride intracellular channel 6", "clic1-like", "parchorin, rabbit, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54102 ; - skos:exactMatch HGNC_symbol:CLIC6 ; + skos:exactMatch UMLS:C1413487, + HGNC:2065, + HGNC_symbol:CLIC6 ; biolink:category biolink:Gene . OMIM:615322 a owl:Class ; @@ -334233,38 +348180,41 @@ OMIM:615322 a owl:Class ; PMID:32197075 ; RO:0002525 CHR:9606chr3q29 ; RO:0003303 OMIM:618875 ; - oboInOwl:hasDbXref UMLS:C1537608, - UMLS:C5394359 ; oboInOwl:hasExactSynonym "NRROS", "leucine-rich repeat-containing protein 33", "negative regulator of reactive oxygen species" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375387 ; - skos:exactMatch HGNC_symbol:NRROS ; + skos:exactMatch UMLS:C1537608, + UMLS:C5394359, + HGNC:24613, + HGNC_symbol:NRROS ; biolink:category biolink:Gene . OMIM:615323 a owl:Class ; rdfs:label "JOSD1" ; IAO:0000142 PMID:23625928, PMID:7584044 ; - oboInOwl:hasDbXref UMLS:C1825638 ; oboInOwl:hasExactSynonym "JOSD1", "josephin domain-containing protein 1", "kiaa0063" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9929 ; - skos:exactMatch HGNC_symbol:JOSD1 ; + skos:exactMatch UMLS:C1825638, + HGNC:28953, + HGNC_symbol:JOSD1 ; biolink:category biolink:Gene . OMIM:615324 a owl:Class ; rdfs:label "JOSD2" ; IAO:0000142 PMID:23625928 ; - oboInOwl:hasDbXref UMLS:C1825639 ; oboInOwl:hasExactSynonym "JOSD2", "josephin domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126119 ; - skos:exactMatch HGNC_symbol:JOSD2 ; + skos:exactMatch UMLS:C1825639, + HGNC:28853, + HGNC_symbol:JOSD2 ; biolink:category biolink:Gene . OMIM:615325 a owl:Class ; @@ -334275,12 +348225,13 @@ OMIM:615326 a owl:Class ; rdfs:label "IFNK" ; IAO:0000142 PMID:11514542, PMID:28792927 ; - oboInOwl:hasDbXref UMLS:C1427711 ; oboInOwl:hasExactSynonym "IFNK", "interferon, kappa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56832 ; - skos:exactMatch HGNC_symbol:IFNK ; + skos:exactMatch UMLS:C1427711, + HGNC:21714, + HGNC_symbol:IFNK ; biolink:category biolink:Gene . OMIM:615329 a owl:Class ; @@ -334290,27 +348241,29 @@ OMIM:615329 a owl:Class ; PMID:9405631 ; RO:0002525 CHR:9606chr6p25.3 ; RO:0003303 OMIM:619306 ; - oboInOwl:hasDbXref UMLS:C1825074 ; oboInOwl:hasExactSynonym "EXOC2", "exocyst complex component 2", "sec5", "sec5-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55770 ; - skos:exactMatch HGNC_symbol:EXOC2 ; + skos:exactMatch UMLS:C1825074, + HGNC:24968, + HGNC_symbol:EXOC2 ; biolink:category biolink:Gene . OMIM:615331 a owl:Class ; rdfs:label "IRF2BP1" ; IAO:0000142 PMID:12799427, PMID:18671972 ; - oboInOwl:hasDbXref UMLS:C1427725 ; oboInOwl:hasExactSynonym "IRF2BP1", "interferon regulatory factor 2-binding protein 1", "irf2-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26145 ; - skos:exactMatch HGNC_symbol:IRF2BP1 ; + skos:exactMatch UMLS:C1427725, + HGNC:21728, + HGNC_symbol:IRF2BP1 ; biolink:category biolink:Gene . OMIM:615332 a owl:Class ; @@ -334320,27 +348273,29 @@ OMIM:615332 a owl:Class ; PMID:27016798 ; RO:0002525 CHR:9606chr1q42.3 ; RO:0003303 OMIM:617765 ; - oboInOwl:hasDbXref UMLS:C1427726 ; oboInOwl:hasExactSynonym "IRF2BP2", "interferon regulatory factor 2-binding protein 2", "irf2-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:359948 ; - skos:exactMatch HGNC_symbol:IRF2BP2 ; + skos:exactMatch UMLS:C1427726, + HGNC:21729, + HGNC_symbol:IRF2BP2 ; biolink:category biolink:Gene . OMIM:615333 a owl:Class ; rdfs:label "B3GNT5" ; IAO:0000142 PMID:11283017, PMID:11384981 ; - oboInOwl:hasDbXref UMLS:C1423656 ; oboInOwl:hasExactSynonym "B3GNT5", "beta-1,3-n-acetylglucosaminyltransferase 5", "lactotriaosylceramide synthase", "lc3 synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84002 ; - skos:exactMatch HGNC_symbol:B3GNT5 ; + skos:exactMatch UMLS:C1423656, + HGNC:15684, + HGNC_symbol:B3GNT5 ; biolink:category biolink:Gene . OMIM:615334 a owl:Class ; @@ -334349,14 +348304,15 @@ OMIM:615334 a owl:Class ; PMID:12297269, PMID:12912983, PMID:21757428 ; - oboInOwl:hasDbXref UMLS:C3469890 ; oboInOwl:hasExactSynonym "CERS4", "ceramide synthase 4", "lag1, s. cerevisiae, homolog of, 4", "tram homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79603 ; - skos:exactMatch HGNC_symbol:CERS4 ; + skos:exactMatch UMLS:C3469890, + HGNC:23747, + HGNC_symbol:CERS4 ; biolink:category biolink:Gene . OMIM:615335 a owl:Class ; @@ -334365,38 +348321,41 @@ OMIM:615335 a owl:Class ; PMID:12297269, PMID:12912983, PMID:16100120 ; - oboInOwl:hasDbXref UMLS:C3469891 ; oboInOwl:hasExactSynonym "CERS5", "ceramide synthase 5", "lag1, s. cerevisiae, homolog of, 5", "tram homolog 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91012 ; - skos:exactMatch HGNC_symbol:CERS5 ; + skos:exactMatch UMLS:C3469891, + HGNC:23749, + HGNC_symbol:CERS5 ; biolink:category biolink:Gene . OMIM:615336 a owl:Class ; rdfs:label "CERS6" ; IAO:0000142 PMID:15823095, PMID:22013072 ; - oboInOwl:hasDbXref UMLS:C3469892 ; oboInOwl:hasExactSynonym "CERS6", "ceramide synthase 6", "lag1, s. cerevisiae, homolog of, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253782 ; - skos:exactMatch HGNC_symbol:CERS6 ; + skos:exactMatch UMLS:C3469892, + HGNC:23826, + HGNC_symbol:CERS6 ; biolink:category biolink:Gene . OMIM:615337 a owl:Class ; rdfs:label "B3GNTL1" ; IAO:0000142 PMID:15560372 ; - oboInOwl:hasDbXref UMLS:C1427724 ; oboInOwl:hasExactSynonym "B3GNTL1", "beta-1,3-n-acetylglucosaminyltransferase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146712 ; - skos:exactMatch HGNC_symbol:B3GNTL1 ; + skos:exactMatch UMLS:C1427724, + HGNC:21727, + HGNC_symbol:B3GNTL1 ; biolink:category biolink:Gene . OMIM:615338 a owl:Class ; @@ -334405,13 +348364,13 @@ OMIM:615338 a owl:Class ; PMID:21087195, PMID:23343562, PMID:23526554 ; - oboInOwl:hasDbXref UMLS:C3809173, - ORPHA:293181, - ORPHA:352596 ; oboInOwl:hasExactSynonym "DEE16", "developmental and epileptic encephalopathy 16", "epileptic encephalopathy, early infantile, 16" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3809173, + ORPHA:293181, + ORPHA:352596 ; biolink:category biolink:Disease . OMIM:615339 a owl:Class ; @@ -334419,13 +348378,14 @@ OMIM:615339 a owl:Class ; IAO:0000142 PMID:11358853, PMID:23263864, PMID:23530063 ; - oboInOwl:hasDbXref UMLS:C1824946 ; oboInOwl:hasExactSynonym "DNAJC15", "dnaj/hsp40 homolog, subfamily c, member 15", "methylation-controlled j protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29103 ; - skos:exactMatch HGNC_symbol:DNAJC15 ; + skos:exactMatch UMLS:C1824946, + HGNC:20325, + HGNC_symbol:DNAJC15 ; biolink:category biolink:Gene . OMIM:615340 a owl:Class ; @@ -334434,13 +348394,14 @@ OMIM:615340 a owl:Class ; PMID:24960163 ; RO:0002525 CHR:9606chr3p22.1 ; RO:0003303 OMIM:615348 ; - oboInOwl:hasDbXref UMLS:C1428967 ; oboInOwl:hasExactSynonym "kelch repeat- and btb/poz domain-containing protein 5", "kelch-like 40: klhl40", "sarcosynapsin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131377 ; - skos:exactMatch HGNC_symbol:KLHL40 ; + skos:exactMatch UMLS:C1428967, + HGNC:30372, + HGNC_symbol:KLHL40 ; biolink:category biolink:Gene . OMIM:615341 a owl:Class ; @@ -334449,12 +348410,13 @@ OMIM:615341 a owl:Class ; PMID:12464261, PMID:15128046, PMID:23632021 ; - oboInOwl:hasDbXref UMLS:C1539211 ; oboInOwl:hasExactSynonym "CYP4A22", "cytochrome p450, family 4, subfamily a, polypeptide 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284541 ; - skos:exactMatch HGNC_symbol:CYP4A22 ; + skos:exactMatch UMLS:C1539211, + HGNC:20575, + HGNC_symbol:CYP4A22 ; biolink:category biolink:Gene . OMIM:615345 a owl:Class ; @@ -334465,26 +348427,28 @@ OMIM:615345 a owl:Class ; PMID:7131178 ; RO:0002525 CHR:9606chr9q34.2 ; RO:0003303 OMIM:254940 ; - oboInOwl:hasDbXref UMLS:C2828870 ; oboInOwl:hasExactSynonym "MYMK", "myomaker", "transmembrane protein 8c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389827 ; - skos:exactMatch HGNC_symbol:MYMK ; + skos:exactMatch UMLS:C2828870, + HGNC:33778, + HGNC_symbol:MYMK ; biolink:category biolink:Gene . OMIM:615347 a owl:Class ; rdfs:label "ATAD2B" ; IAO:0000142 PMID:10574462, PMID:21158754 ; - oboInOwl:hasDbXref UMLS:C1825095 ; oboInOwl:hasExactSynonym "ATAD2B", "atpase family, aaa domain-containing, member 2b", "kiaa1240" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54454 ; - skos:exactMatch HGNC_symbol:ATAD2B ; + skos:exactMatch UMLS:C1825095, + HGNC:29230, + HGNC_symbol:ATAD2B ; biolink:category biolink:Gene . OMIM:615349 a owl:Class ; @@ -334492,52 +348456,53 @@ OMIM:615349 a owl:Class ; IAO:0000142 PMID:10506123, PMID:23664117, PMID:29931299 ; - oboInOwl:hasDbXref UMLS:C3809210, - ORPHA:536467, - ORPHA:75496 ; oboInOwl:hasExactSynonym "EDSSPD2", "ehlers-danlos syndrome, progeroid type, 2, formerly", "ehlers-danlos syndrome, spondylodysplastic type, 2" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C3809210, + ORPHA:536467, + ORPHA:75496 ; biolink:category biolink:Disease . OMIM:615350 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14" ; IAO:0000142 PMID:23768512 ; - oboInOwl:hasDbXref UMLS:C3809216, - ORPHA:588 ; oboInOwl:hasExactSynonym "MDDGA14", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14", "walker-warburg syndrome or muscle-eye-brain disease, gmppb-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3809216, + ORPHA:588 ; biolink:category biolink:Disease . OMIM:615351 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14" ; IAO:0000142 PMID:19901254, PMID:23768512 ; - oboInOwl:hasDbXref UMLS:C3809221, - ORPHA:370959, - ORPHA:370968 ; oboInOwl:hasExactSynonym "MDDGB14", "muscular dystrophy, congenital, gmppb-related", "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14" ; rdfs:subClassOf OMIMPS:613155 ; + skos:exactMatch UMLS:C3809221, + ORPHA:370959, + ORPHA:370968 ; biolink:category biolink:Disease . OMIM:615353 a owl:Class ; rdfs:label "CCDC28A" ; IAO:0000142 PMID:16028218, PMID:22058212 ; - oboInOwl:hasDbXref UMLS:C1824553, - UMLS:C3809232 ; oboInOwl:hasExactSynonym "CCDC28A", "ccdc28a/nup98 fusion gene", "chromosome 6 open reading frame 80", "coiled-coil domain-containing protein 28a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25901 ; - skos:exactMatch HGNC_symbol:CCDC28A ; + skos:exactMatch UMLS:C1824553, + UMLS:C3809232, + HGNC:21098, + HGNC_symbol:CCDC28A ; biolink:category biolink:Gene . OMIM:615354 a owl:Class ; @@ -334545,13 +348510,14 @@ OMIM:615354 a owl:Class ; IAO:0000142 PMID:17455211 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:619477 ; - oboInOwl:hasDbXref UMLS:C1823723 ; oboInOwl:hasExactSynonym "LRIF1", "ligand-dependent nuclear receptor-interacting factor 1", "receptor-interacting factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55791 ; - skos:exactMatch HGNC_symbol:LRIF1 ; + skos:exactMatch UMLS:C1823723, + HGNC:30299, + HGNC_symbol:LRIF1 ; biolink:category biolink:Gene . OMIM:615357 a owl:Class ; @@ -334560,47 +348526,50 @@ OMIM:615357 a owl:Class ; PMID:15620693, PMID:15917431, PMID:18826941 ; - oboInOwl:hasDbXref UMLS:C1825857 ; oboInOwl:hasExactSynonym "B3GNT8", "beta-1,3-galactosyltransferase 7, formerly", "beta-1,3-galactosyltransferase 8", "bgalt15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374907 ; - skos:exactMatch HGNC_symbol:B3GNT8 ; + skos:exactMatch UMLS:C1825857, + HGNC:24139, + HGNC_symbol:B3GNT8 ; biolink:category biolink:Gene . OMIM:615358 a owl:Class ; rdfs:label "AK9" ; IAO:0000142 PMID:23416111 ; - oboInOwl:hasDbXref UMLS:C2681904 ; oboInOwl:hasExactSynonym "AK9", "adenylate kinase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221264 ; - skos:exactMatch HGNC_symbol:AK9 ; + skos:exactMatch UMLS:C2681904, + HGNC:33814, + HGNC_symbol:AK9 ; biolink:category biolink:Gene . OMIM:615359 a owl:Class ; rdfs:label "MIOS" ; IAO:0000142 PMID:14973288, PMID:23723238 ; - oboInOwl:hasDbXref UMLS:C2681663 ; oboInOwl:hasExactSynonym "MIOS", "meiosis regulator for oocyte development", "missing oocyte/meiosis regulator, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54468 ; - skos:exactMatch HGNC_symbol:MIOS ; + skos:exactMatch UMLS:C2681663, + HGNC:21905, + HGNC_symbol:MIOS ; biolink:category biolink:Gene . OMIM:615360 a owl:Class ; rdfs:label "leber congenital amaurosis 17" ; IAO:0000142 PMID:23307924 ; - oboInOwl:hasDbXref UMLS:C3715164 ; oboInOwl:hasExactSynonym "LCA17", "leber congenital amaurosis 17" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C3715164 ; biolink:category biolink:Disease . OMIM:615361 a owl:Class ; @@ -334609,10 +348578,10 @@ OMIM:615361 a owl:Class ; PMID:23802536, PMID:24823460, PMID:6278146 ; - oboInOwl:hasDbXref UMLS:C3809243 ; oboInOwl:hasExactSynonym "HYPOC2", "hypocalcemia, autosomal dominant 2" ; rdfs:subClassOf OMIMPS:601198 ; + skos:exactMatch UMLS:C3809243 ; biolink:category biolink:Disease . OMIM:615363 a owl:Class ; @@ -334623,10 +348592,10 @@ OMIM:615363 a owl:Class ; PMID:27754803, PMID:8090165, PMID:9396482 ; - oboInOwl:hasDbXref UMLS:C3809250 ; oboInOwl:hasExactSynonym "ESTRR", "estrogen insensitivity", "estrogen resistance" ; + skos:exactMatch UMLS:C3809250 ; biolink:category biolink:Disease . OMIM:615364 a owl:Class ; @@ -334638,46 +348607,50 @@ OMIM:615364 a owl:Class ; PMID:29365104 ; RO:0002525 CHR:9606chr14q32.2 ; RO:0003303 OMIM:617965 ; - oboInOwl:hasDbXref UMLS:C1426676 ; oboInOwl:hasExactSynonym "AK7", "adenylate kinase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122481 ; - skos:exactMatch HGNC_symbol:AK7 ; + skos:exactMatch UMLS:C1426676, + HGNC:20091, + HGNC_symbol:AK7 ; biolink:category biolink:Gene . OMIM:615365 a owl:Class ; rdfs:label "AK8" ; IAO:0000142 PMID:21080915 ; - oboInOwl:hasDbXref UMLS:C1428600 ; oboInOwl:hasExactSynonym "AK8", "adenylate kinase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158067 ; - skos:exactMatch HGNC_symbol:AK8 ; + skos:exactMatch UMLS:C1428600, + HGNC:26526, + HGNC_symbol:AK8 ; biolink:category biolink:Gene . OMIM:615366 a owl:Class ; rdfs:label "NOL11" ; IAO:0000142 PMID:22916032 ; - oboInOwl:hasDbXref UMLS:C1826452 ; oboInOwl:hasExactSynonym "NOL11", "nucleolar protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25926 ; - skos:exactMatch HGNC_symbol:NOL11 ; + skos:exactMatch UMLS:C1826452, + HGNC:24557, + HGNC_symbol:NOL11 ; biolink:category biolink:Gene . OMIM:615367 a owl:Class ; rdfs:label "NTAN1" ; IAO:0000142 PMID:8910481 ; - oboInOwl:hasDbXref UMLS:C1538494 ; oboInOwl:hasExactSynonym "NTAN1", "n-terminal asparagine amidase", "n-terminal asparagine amidohydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123803 ; - skos:exactMatch HGNC_symbol:NTAN1 ; + skos:exactMatch UMLS:C1538494, + HGNC:29909, + HGNC_symbol:NTAN1 ; biolink:category biolink:Gene . OMIM:615370 a owl:Class ; @@ -334688,28 +348661,30 @@ OMIM:615370 a owl:Class ; PMID:25671767 ; RO:0002525 CHR:9606chr9q22.33 ; RO:0003303 OMIM:615382 ; - oboInOwl:hasDbXref UMLS:C1823697 ; oboInOwl:hasExactSynonym "ANKS6", "ankyrin repeat and sterile alpha motif domains-containing protein 6", "pkdr1", "samcystin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203286 ; - skos:exactMatch HGNC_symbol:ANKS6 ; + skos:exactMatch UMLS:C1823697, + HGNC:26724, + HGNC_symbol:ANKS6 ; biolink:category biolink:Gene . OMIM:615372 a owl:Class ; rdfs:label "MIR1260B" ; IAO:0000142 PMID:16381832, PMID:23591200 ; - oboInOwl:hasDbXref UMLS:C2829687 ; oboInOwl:hasExactSynonym "MIR1260B", "micro RNA 1260b", "mirn1260b", "mirna1260b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100422991 ; - skos:exactMatch HGNC_symbol:MIR1260B ; + skos:exactMatch UMLS:C2829687, + HGNC:38258, + HGNC_symbol:MIR1260B ; biolink:category biolink:Gene . OMIM:615375 a owl:Class ; @@ -334717,81 +348692,85 @@ OMIM:615375 a owl:Class ; IAO:0000142 PMID:11096118, PMID:15485901, PMID:17079333 ; - oboInOwl:hasDbXref UMLS:C1424940 ; oboInOwl:hasExactSynonym "IRAK1BP1", "interleukin 1 receptor-associated kinase 1-binding protein 1", "irak1-binding protein 1", "signaling molecule that associates with pelle-like kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134728 ; - skos:exactMatch HGNC_symbol:IRAK1BP1 ; + skos:exactMatch UMLS:C1424940, + HGNC:17368, + HGNC_symbol:IRAK1BP1 ; biolink:category biolink:Gene . OMIM:615376 a owl:Class ; rdfs:label "charcot-marie-tooth disease, recessive intermediate c" ; IAO:0000142 PMID:23777631, PMID:23844677 ; - oboInOwl:hasDbXref UMLS:C3809309 ; oboInOwl:hasExactSynonym "CMTRIC", "charcot-marie-tooth disease, recessive intermediate c", "charcot-marie-tooth neuropathy, recessive intermediate c" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3809309 ; biolink:category biolink:Disease . OMIM:615377 a owl:Class ; rdfs:label "atrial fibrillation, familial, 13" ; IAO:0000142 PMID:19808477, PMID:9070470 ; - oboInOwl:hasDbXref UMLS:C3809311 ; oboInOwl:hasExactSynonym "ATFB13", "atrial fibrillation, familial, 13" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C3809311 ; biolink:category biolink:Disease . OMIM:615379 a owl:Class ; rdfs:label "MIR650" ; IAO:0000142 PMID:20381459, PMID:22234685 ; - oboInOwl:hasDbXref UMLS:C1826229 ; oboInOwl:hasExactSynonym "MIR650", "micro RNA 650", "mirna650" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:723778 ; - skos:exactMatch HGNC_symbol:MIR650 ; + skos:exactMatch UMLS:C1826229, + HGNC:32906, + HGNC_symbol:MIR650 ; biolink:category biolink:Gene . OMIM:615380 a owl:Class ; rdfs:label "AREL1" ; IAO:0000142 PMID:23479728, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C3809313 ; oboInOwl:hasExactSynonym "AREL1", "apoptosis-resistant e3 ubiquitin protein ligase 1", "kiaa0317" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9870 ; - skos:exactMatch HGNC_symbol:AREL1 ; + skos:exactMatch UMLS:C3809313, + HGNC:20363, + HGNC_symbol:AREL1 ; biolink:category biolink:Gene . OMIM:615381 a owl:Class ; rdfs:label "mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" ; IAO:0000142 PMID:20631028, PMID:23770608 ; - oboInOwl:hasDbXref UMLS:C3715192 ; oboInOwl:hasExactSynonym "MDPL", "mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" ; + skos:exactMatch UMLS:C3715192 ; biolink:category biolink:Disease . OMIM:615383 a owl:Class ; rdfs:label "FIGNL1" ; IAO:0000142 PMID:23754376 ; - oboInOwl:hasDbXref UMLS:C1421923 ; oboInOwl:hasExactSynonym "FIGNL1", "fidgetin-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63979 ; - skos:exactMatch HGNC_symbol:FIGNL1 ; + skos:exactMatch UMLS:C1421923, + HGNC:13286, + HGNC_symbol:FIGNL1 ; biolink:category biolink:Gene . OMIM:615384 a owl:Class ; @@ -334801,13 +348780,14 @@ OMIM:615384 a owl:Class ; PMID:8590280 ; RO:0002525 CHR:9606chr8q11.21 ; RO:0003303 OMIM:619665 ; - oboInOwl:hasDbXref UMLS:C3809326 ; oboInOwl:hasExactSynonym "SPIDR", "kiaa0146", "scaffolding protein involved 1n DNA repair" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23514 ; - skos:exactMatch HGNC_symbol:SPIDR ; + skos:exactMatch UMLS:C3809326, + HGNC:28971, + HGNC_symbol:SPIDR ; biolink:category biolink:Gene . OMIM:615385 a owl:Class ; @@ -334815,49 +348795,53 @@ OMIM:615385 a owl:Class ; IAO:0000142 PMID:21252292, PMID:23593016, PMID:24387992 ; - oboInOwl:hasDbXref UMLS:C1826038 ; oboInOwl:hasExactSynonym "MIR485", "micro RNA 485", "mirna485" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574436 ; - skos:exactMatch HGNC_symbol:MIR485 ; + skos:exactMatch UMLS:C1826038, + HGNC:32067, + HGNC_symbol:MIR485 ; biolink:category biolink:Gene . OMIM:615388 a owl:Class ; rdfs:label "ADAT2" ; IAO:0000142 PMID:10550050 ; - oboInOwl:hasDbXref UMLS:C1427384 ; oboInOwl:hasExactSynonym "ADAT2", "adenosine deaminase, trna-specific, 2", "tad2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134637 ; - skos:exactMatch HGNC_symbol:ADAT2 ; + skos:exactMatch UMLS:C1427384, + HGNC:21172, + HGNC_symbol:ADAT2 ; biolink:category biolink:Gene . OMIM:615389 a owl:Class ; rdfs:label "IDI2" ; IAO:0000142 PMID:14629038, PMID:17202134 ; - oboInOwl:hasDbXref UMLS:C1428100 ; oboInOwl:hasExactSynonym "IDI2", "ippi2", "isopentenyl-diphosphate delta isomerase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91734 ; - skos:exactMatch HGNC_symbol:IDI2 ; + skos:exactMatch UMLS:C1428100, + HGNC:23487, + HGNC_symbol:IDI2 ; biolink:category biolink:Gene . OMIM:615391 a owl:Class ; rdfs:label "IDI2AS1" ; IAO:0000142 PMID:14629038 ; - oboInOwl:hasDbXref UMLS:C3809338 ; oboInOwl:hasExactSynonym "IDI2AS1", "idi2 antisense RNA 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55853 ; - skos:exactMatch HGNC_symbol:IDI2-AS1 ; + skos:exactMatch UMLS:C3809338, + HGNC:30885, + HGNC_symbol:IDI2-AS1 ; biolink:category biolink:Gene . OMIM:615392 a owl:Class ; @@ -334866,13 +348850,14 @@ OMIM:615392 a owl:Class ; PMID:17599839, PMID:18024232, PMID:23385818 ; - oboInOwl:hasDbXref UMLS:C1426813 ; oboInOwl:hasExactSynonym "SFMBT2", "kiaa1617", "scm-like protein with 4 mbt domains 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57713 ; - skos:exactMatch HGNC_symbol:SFMBT2 ; + skos:exactMatch UMLS:C1426813, + HGNC:20256, + HGNC_symbol:SFMBT2 ; biolink:category biolink:Gene . OMIM:615393 a owl:Class ; @@ -334880,45 +348865,47 @@ OMIM:615393 a owl:Class ; IAO:0000142 PMID:21450691, PMID:21531335, PMID:22949673 ; - oboInOwl:hasDbXref UMLS:C1826318 ; oboInOwl:hasExactSynonym "MTERF4", "mitochondrial transcription termination factor 4", "mterf domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130916 ; - skos:exactMatch HGNC_symbol:MTERF4 ; + skos:exactMatch UMLS:C1826318, + HGNC:28785, + HGNC_symbol:MTERF4 ; biolink:category biolink:Gene . OMIM:615394 a owl:Class ; rdfs:label "NSUN4" ; IAO:0000142 PMID:21531335, PMID:22949673 ; - oboInOwl:hasDbXref UMLS:C1538491 ; oboInOwl:hasExactSynonym "NSUN4", "nop2/sun RNA methyltransferase family, member 4", "nop2/sun domain family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387338 ; - skos:exactMatch HGNC_symbol:NSUN4 ; + skos:exactMatch UMLS:C1538491, + HGNC:31802, + HGNC_symbol:NSUN4 ; biolink:category biolink:Gene . OMIM:615399 a owl:Class ; rdfs:label "paroxysmal nocturnal hemoglobinuria 2" ; IAO:0000142 PMID:23733340 ; - oboInOwl:hasDbXref UMLS:C3809369 ; oboInOwl:hasExactSynonym "PNH2", "paroxysmal nocturnal hemoglobinuria 2" ; rdfs:subClassOf OMIMPS:300818 ; + skos:exactMatch UMLS:C3809369 ; biolink:category biolink:Disease . OMIM:615402 a owl:Class ; rdfs:label "dyschromatosis universalis hereditaria 3" ; IAO:0000142 PMID:23519333, PMID:24224009 ; - oboInOwl:hasDbXref UMLS:C3809394 ; oboInOwl:hasExactSynonym "DUH3", "dyschromatosis universalis hereditaria 3" ; rdfs:subClassOf OMIMPS:127500 ; + skos:exactMatch UMLS:C3809394 ; biolink:category biolink:Disease . OMIM:615403 a owl:Class ; @@ -334931,14 +348918,15 @@ OMIM:615403 a owl:Class ; PMID:30476144 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:613680 ; - oboInOwl:hasDbXref UMLS:C1823273, - UMLS:C3150939 ; oboInOwl:hasExactSynonym "THOC6", "functional spliceosome-associated protein, 35-kd", "tho complex, subunit 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79228 ; - skos:exactMatch HGNC_symbol:THOC6 ; + skos:exactMatch UMLS:C1823273, + UMLS:C3150939, + HGNC:28369, + HGNC_symbol:THOC6 ; biolink:category biolink:Gene . OMIM:615404 a owl:Class ; @@ -334946,38 +348934,41 @@ OMIM:615404 a owl:Class ; IAO:0000142 PMID:23810381 ; RO:0002525 CHR:9606chr2q36.3 ; RO:0003303 OMIM:615432 ; - oboInOwl:hasDbXref UMLS:C1539976 ; oboInOwl:hasExactSynonym "TM4SF20", "transmembrane 4 l6 family, member 20", "transmembrane 4 superfamily, member 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79853 ; - skos:exactMatch HGNC_symbol:TM4SF20 ; + skos:exactMatch UMLS:C1539976, + HGNC:26230, + HGNC_symbol:TM4SF20 ; biolink:category biolink:Gene . OMIM:615405 a owl:Class ; rdfs:label "GNG12" ; IAO:0000142 PMID:10819326, PMID:23871723 ; - oboInOwl:hasDbXref UMLS:C1426313 ; oboInOwl:hasExactSynonym "GNG12", "guanine nucleotide-binding protein, gamma-12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55970 ; - skos:exactMatch HGNC_symbol:GNG12 ; + skos:exactMatch UMLS:C1426313, + HGNC:19663, + HGNC_symbol:GNG12 ; biolink:category biolink:Gene . OMIM:615406 a owl:Class ; rdfs:label "GNG12AS1" ; IAO:0000142 PMID:23871723 ; - oboInOwl:hasDbXref UMLS:C3809404 ; oboInOwl:hasExactSynonym "GNG12AS1", "gng12 antisense RNA 1, noncoding", "lncrna gng12as1", "long noncoding RNA gng12as1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100289178 ; - skos:exactMatch HGNC_symbol:GNG12-AS1 ; + skos:exactMatch UMLS:C3809404, + HGNC:43938, + HGNC_symbol:GNG12-AS1 ; biolink:category biolink:Gene . OMIM:615407 a owl:Class ; @@ -334988,16 +348979,17 @@ OMIM:615407 a owl:Class ; PMID:29718757 ; RO:0002525 CHR:9606chr16q13 ; RO:0003303 OMIM:615434 ; - oboInOwl:hasDbXref UMLS:C1424778, - UMLS:C4747737, - UMLS:C4749131 ; oboInOwl:hasExactSynonym "ARL2BP", "adp-ribosylation factor-like gtpase 2-binding protein", "arl2-binding protein", "binder of arl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23568 ; - skos:exactMatch HGNC_symbol:ARL2BP ; + skos:exactMatch UMLS:C1424778, + UMLS:C4747737, + UMLS:C4749131, + HGNC:17146, + HGNC_symbol:ARL2BP ; biolink:category biolink:Gene . OMIM:615408 a owl:Class ; @@ -335006,25 +348998,27 @@ OMIM:615408 a owl:Class ; PMID:24203976 ; RO:0002525 CHR:9606chr10p12.1 ; RO:0003303 OMIM:615451 ; - oboInOwl:hasDbXref UMLS:C1428503 ; oboInOwl:hasExactSynonym "ODAD2", "armadillo repeat-containing protein 4", "outer dynein arm docking complex subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55130 ; - skos:exactMatch HGNC_symbol:ODAD2 ; + skos:exactMatch UMLS:C1428503, + HGNC:25583, + HGNC_symbol:ODAD2 ; biolink:category biolink:Gene . OMIM:615409 a owl:Class ; rdfs:label "SPATA33" ; IAO:0000142 PMID:23844118 ; - oboInOwl:hasDbXref UMLS:C1540254 ; oboInOwl:hasExactSynonym "SPATA33", "chromosome 16 open reading frame 55", "spermatogenesis-associated protein 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124045 ; - skos:exactMatch HGNC_symbol:SPATA33 ; + skos:exactMatch UMLS:C1540254, + HGNC:26463, + HGNC_symbol:SPATA33 ; biolink:category biolink:Gene . OMIM:615410 a owl:Class ; @@ -335037,14 +349031,15 @@ OMIM:615410 a owl:Class ; PMID:23869017 ; RO:0002525 CHR:9606chr6q14.2 ; RO:0003303 OMIM:615457 ; - oboInOwl:hasDbXref UMLS:C2681839 ; oboInOwl:hasExactSynonym "MRAP2", "chromosome 6 open reading frame 117", "mc2r accessory protein 2", "melanocortin 2 receptor accessory protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112609 ; - skos:exactMatch HGNC_symbol:MRAP2 ; + skos:exactMatch UMLS:C2681839, + HGNC:21232, + HGNC_symbol:MRAP2 ; biolink:category biolink:Gene . OMIM:615416 a owl:Class ; @@ -335059,14 +349054,15 @@ OMIM:615416 a owl:Class ; PMID:9783716 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:609432 ; - oboInOwl:hasDbXref UMLS:C2681183 ; oboInOwl:hasExactSynonym "BHLHA9", "basic helix-loop-helix factor, class f, 42", "basic helix-loop-helix family, member a9", "fingerin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:727857 ; - skos:exactMatch HGNC_symbol:BHLHA9 ; + skos:exactMatch UMLS:C2681183, + HGNC:35126, + HGNC_symbol:BHLHA9 ; biolink:category biolink:Gene . OMIM:615417 a owl:Class ; @@ -335074,13 +349070,14 @@ OMIM:615417 a owl:Class ; IAO:0000142 PMID:12388752, PMID:14742712, PMID:9242691 ; - oboInOwl:hasDbXref UMLS:C1426180 ; oboInOwl:hasExactSynonym "BET1L", "bet1-like protein", "golgi snare, 15-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51272 ; - skos:exactMatch HGNC_symbol:BET1L ; + skos:exactMatch UMLS:C1426180, + HGNC:19348, + HGNC_symbol:BET1L ; biolink:category biolink:Gene . OMIM:615418 a owl:Class ; @@ -335091,10 +349088,10 @@ OMIM:615418 a owl:Class ; PMID:7609449, PMID:8479824, PMID:9207786 ; - oboInOwl:hasDbXref UMLS:C3809443 ; oboInOwl:hasExactSynonym "MTDPS12B", "mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C3809443 ; biolink:category biolink:Disease . OMIM:615421 a owl:Class ; @@ -335102,12 +349099,13 @@ OMIM:615421 a owl:Class ; IAO:0000142 PMID:23579484 ; RO:0002525 CHR:9606chr4q35.1 ; RO:0003303 OMIM:615420 ; - oboInOwl:hasDbXref UMLS:C1824640 ; oboInOwl:hasExactSynonym "CCDC111", "coiled-coil domain-containing 111" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201973 ; - skos:exactMatch HGNC_symbol:PRIMPOL ; + skos:exactMatch UMLS:C1824640, + HGNC:26575, + HGNC_symbol:PRIMPOL ; biolink:category biolink:Gene . OMIM:615423 a owl:Class ; @@ -335118,7 +349116,6 @@ OMIM:615423 a owl:Class ; PMID:29072297 ; RO:0002525 CHR:9606chr3q12.3 ; RO:0003303 OMIM:616974 ; - oboInOwl:hasDbXref UMLS:C1428545 ; oboInOwl:hasExactSynonym "RNA (guanine-9-)methyltransferase domain-containing protein 1", "TRMT10C", "mitochondrial ribonuclease p protein 1", @@ -335126,7 +349123,9 @@ OMIM:615423 a owl:Class ; "trna methyltransferase 10c, mitochondrial rnase p subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54931 ; - skos:exactMatch HGNC_symbol:TRMT10C ; + skos:exactMatch UMLS:C1428545, + HGNC:26022, + HGNC_symbol:TRMT10C ; biolink:category biolink:Gene . OMIM:615424 a owl:Class ; @@ -335135,11 +349134,11 @@ OMIM:615424 a owl:Class ; PMID:23455423, PMID:24119545, PMID:24612671 ; - oboInOwl:hasDbXref UMLS:C3809469 ; oboInOwl:hasExactSynonym "IBMPFD3", "inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3", "multisystem proteinopathy 3" ; rdfs:subClassOf OMIMPS:167320 ; + skos:exactMatch UMLS:C3809469 ; biolink:category biolink:Disease . OMIM:615427 a owl:Class ; @@ -335148,38 +349147,41 @@ OMIM:615427 a owl:Class ; PMID:24039609 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:615429 ; - oboInOwl:hasDbXref UMLS:C1538785 ; oboInOwl:hasExactSynonym "ELMOD3", "elmo/ced12 domain-containing protein 3", "rna-binding motif- and elmo domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84173 ; - skos:exactMatch HGNC_symbol:ELMOD3 ; + skos:exactMatch UMLS:C1538785, + HGNC:26158, + HGNC_symbol:ELMOD3 ; biolink:category biolink:Gene . OMIM:615428 a owl:Class ; rdfs:label "DDX47" ; IAO:0000142 PMID:15977068, PMID:16963496 ; - oboInOwl:hasDbXref UMLS:C1425702 ; oboInOwl:hasExactSynonym "DDX47", "dead-box helicase 47", "dead-box polypeptide 47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51202 ; - skos:exactMatch HGNC_symbol:DDX47 ; + skos:exactMatch UMLS:C1425702, + HGNC:18682, + HGNC_symbol:DDX47 ; biolink:category biolink:Gene . OMIM:615430 a owl:Class ; rdfs:label "TMEM241" ; IAO:0000142 PMID:23027870 ; - oboInOwl:hasDbXref UMLS:C3470101 ; oboInOwl:hasExactSynonym "TMEM241", "chromosome 18 open reading frame 45", "transmembrane protein 241" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85019 ; - skos:exactMatch HGNC_symbol:TMEM241 ; + skos:exactMatch UMLS:C3470101, + HGNC:31723, + HGNC_symbol:TMEM241 ; biolink:category biolink:Gene . OMIM:615433 a owl:Class ; @@ -335188,8 +349190,8 @@ OMIM:615433 a owl:Class ; PMID:23878096, PMID:25062845 ; RO:0002525 CHR:9606chr3q13.31 ; - oboInOwl:hasDbXref UMLS:C3809490 ; oboInOwl:hasExactSynonym "chromosome 3q13.31 deletion syndrome" ; + skos:exactMatch UMLS:C3809490 ; biolink:category biolink:Disease . OMIM:615435 a owl:Class ; @@ -335202,7 +349204,6 @@ OMIM:615435 a owl:Class ; PMID:18833192, PMID:21215271, PMID:23027870 ; - oboInOwl:hasDbXref UMLS:C1421920 ; oboInOwl:hasExactSynonym "ERO1L", "endoplasmic reticulum oxidoreductin 1-like", "ero1, s. cerevisiae, homolog of, alpha", @@ -335210,7 +349211,9 @@ OMIM:615435 a owl:Class ; "ero1-like, alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30001 ; - skos:exactMatch HGNC_symbol:ERO1A ; + skos:exactMatch UMLS:C1421920, + HGNC:13280, + HGNC_symbol:ERO1A ; biolink:category biolink:Gene . OMIM:615437 a owl:Class ; @@ -335221,7 +349224,6 @@ OMIM:615437 a owl:Class ; PMID:18833192, PMID:20308425, PMID:21091435 ; - oboInOwl:hasDbXref UMLS:C1422588 ; oboInOwl:hasExactSynonym "ERO1LB", "endoplasmic reticulum oxidoreductin 1-like, beta", "ero1, s. cerevisiae, homolog of, beta", @@ -335229,17 +349231,19 @@ OMIM:615437 a owl:Class ; "ero1-like, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56605 ; - skos:exactMatch HGNC_symbol:ERO1B ; + skos:exactMatch UMLS:C1422588, + HGNC:14355, + HGNC_symbol:ERO1B ; biolink:category biolink:Gene . OMIM:615440 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 17" ; IAO:0000142 PMID:23849775 ; - oboInOwl:hasDbXref UMLS:C3809526, - ORPHA:369913 ; oboInOwl:hasExactSynonym "COXPD17", "combined oxidative phosphorylation deficiency 17" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3809526, + ORPHA:369913 ; biolink:category biolink:Disease . OMIM:615442 a owl:Class ; @@ -335249,10 +349253,10 @@ OMIM:615442 a owl:Class ; PMID:25752900, PMID:3875152, PMID:3876514 ; - oboInOwl:hasDbXref UMLS:C3809541 ; oboInOwl:hasExactSynonym "TRAV@", "t-cell receptor alpha chain variable gene cluster" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C3809541 ; biolink:category biolink:Gene . OMIM:615443 a owl:Class ; @@ -335260,57 +349264,60 @@ OMIM:615443 a owl:Class ; IAO:0000142 PMID:25049333, PMID:3875152, PMID:3876514 ; - oboInOwl:hasDbXref UMLS:C3809542 ; oboInOwl:hasExactSynonym "TRAJ@", "t-cell receptor alpha chain joining gene cluster" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C3809542 ; biolink:category biolink:Gene . OMIM:615445 a owl:Class ; rdfs:label "TRBC2" ; - oboInOwl:hasDbXref UMLS:C1421009 ; oboInOwl:hasExactSynonym "TRBC2", "t-cell receptor beta chain constant region 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28638 ; - skos:exactMatch HGNC_symbol:TRBC2 ; + skos:exactMatch UMLS:C1421009, + HGNC:12157, + HGNC_symbol:TRBC2 ; biolink:category biolink:Gene . OMIM:615446 a owl:Class ; rdfs:label "TRBV@" ; IAO:0000142 PMID:25049333 ; - oboInOwl:hasDbXref UMLS:C3809546 ; oboInOwl:hasExactSynonym "TRBV@", "t-cell receptor beta chain variable gene cluster" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C3809546 ; biolink:category biolink:Gene . OMIM:615447 a owl:Class ; rdfs:label "TRBD1" ; - oboInOwl:hasDbXref UMLS:C1421010 ; oboInOwl:hasExactSynonym "TRBD1", "t-cell receptor beta chain diversity gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28637 ; - skos:exactMatch HGNC_symbol:TRBD1 ; + skos:exactMatch UMLS:C1421010, + HGNC:12158, + HGNC_symbol:TRBD1 ; biolink:category biolink:Gene . OMIM:615448 a owl:Class ; rdfs:label "TRBD2" ; - oboInOwl:hasDbXref UMLS:C1421011 ; oboInOwl:hasExactSynonym "TRBD2", "t-cell receptor beta chain diversity gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28636 ; - skos:exactMatch HGNC_symbol:TRBD2 ; + skos:exactMatch UMLS:C1421011, + HGNC:12159, + HGNC_symbol:TRBD2 ; biolink:category biolink:Gene . OMIM:615449 a owl:Class ; rdfs:label "TRBJ@" ; - oboInOwl:hasDbXref UMLS:C3809547 ; oboInOwl:hasExactSynonym "TRBJ@", "t-cell receptor beta chain joining gene cluster" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C3809547 ; biolink:category biolink:Gene . OMIM:615450 a owl:Class ; @@ -335322,12 +349329,13 @@ OMIM:615450 a owl:Class ; PMID:2991773, PMID:3102973, PMID:3112943 ; - oboInOwl:hasDbXref UMLS:C1421121 ; oboInOwl:hasExactSynonym "TRGC2", "t-cell receptor gamma chain constant region 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6967 ; - skos:exactMatch HGNC_symbol:TRGC2 ; + skos:exactMatch UMLS:C1421121, + HGNC:12276, + HGNC_symbol:TRGC2 ; biolink:category biolink:Gene . OMIM:615452 a owl:Class ; @@ -335335,7 +349343,6 @@ OMIM:615452 a owl:Class ; IAO:0000142 PMID:20874843, PMID:23945587, PMID:24594601 ; - oboInOwl:hasDbXref UMLS:C3809552 ; oboInOwl:hasExactSynonym "PRNCR1", "cancer-associated region long noncoding RNA 4", "lncrna carlo3", @@ -335343,7 +349350,9 @@ OMIM:615452 a owl:Class ; "prostate cancer-associated transcript 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101867536 ; - skos:exactMatch HGNC_symbol:PRNCR1 ; + skos:exactMatch UMLS:C3809552, + HGNC:48942, + HGNC_symbol:PRNCR1 ; biolink:category biolink:Gene . OMIM:615454 a owl:Class ; @@ -335354,10 +349363,10 @@ OMIM:615454 a owl:Class ; PMID:2938743, PMID:2969332, PMID:3079918 ; - oboInOwl:hasDbXref UMLS:C3809564 ; oboInOwl:hasExactSynonym "TRGV@", "t-cell receptor gamma chain variable gene cluster" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C3809564 ; biolink:category biolink:Gene . OMIM:615455 a owl:Class ; @@ -335365,41 +349374,42 @@ OMIM:615455 a owl:Class ; IAO:0000142 PMID:2951442, PMID:2961573, PMID:2961609 ; - oboInOwl:hasDbXref UMLS:C3809565 ; oboInOwl:hasExactSynonym "TRGJ@", "t-cell receptor gamma chain joining gene cluster" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C3809565 ; biolink:category biolink:Gene . OMIM:615456 a owl:Class ; rdfs:label "ELMOD1" ; IAO:0000142 PMID:17452337, PMID:29222402 ; - oboInOwl:hasDbXref UMLS:C1539353 ; oboInOwl:hasExactSynonym "ELMOD1", "elmo/ced12 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55531 ; - skos:exactMatch HGNC_symbol:ELMOD1 ; + skos:exactMatch UMLS:C1539353, + HGNC:25334, + HGNC_symbol:ELMOD1 ; biolink:category biolink:Gene . OMIM:615459 a owl:Class ; rdfs:label "TRDV@" ; IAO:0000142 PMID:2836865 ; - oboInOwl:hasDbXref UMLS:C3809570 ; oboInOwl:hasExactSynonym "TRDV@", "t-cell receptor delta chain variable gene cluster" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C3809570 ; biolink:category biolink:Gene . OMIM:615460 a owl:Class ; rdfs:label "TRDD@" ; IAO:0000142 PMID:2467296, PMID:2836865 ; - oboInOwl:hasDbXref UMLS:C3809571 ; oboInOwl:hasExactSynonym "TRDD@", "t-cell receptor delta chain diversity gene cluster" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C3809571 ; biolink:category biolink:Gene . OMIM:615461 a owl:Class ; @@ -335409,10 +349419,10 @@ OMIM:615461 a owl:Class ; PMID:3186718, PMID:3259177, PMID:8207230 ; - oboInOwl:hasDbXref UMLS:C3809572 ; oboInOwl:hasExactSynonym "TRDJ@", "t-cell receptor delta chain joining gene cluster" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C3809572 ; biolink:category biolink:Gene . OMIM:615462 a owl:Class ; @@ -335421,12 +349431,13 @@ OMIM:615462 a owl:Class ; PMID:23910462 ; RO:0002525 CHR:9606chr7q36.3 ; RO:0003303 OMIM:615503 ; - oboInOwl:hasDbXref UMLS:C1538104 ; oboInOwl:hasExactSynonym "WDR60", "wd repeat-containing protein 60" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55112 ; - skos:exactMatch HGNC_symbol:DYNC2I1 ; + skos:exactMatch UMLS:C1538104, + HGNC:21862, + HGNC_symbol:DYNC2I1 ; biolink:category biolink:Gene . OMIM:615463 a owl:Class ; @@ -335444,16 +349455,17 @@ OMIM:615463 a owl:Class ; PMID:9455484 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:615476 ; - oboInOwl:hasDbXref UMLS:C1825662, - UMLS:C2986382, - UMLS:C3809624 ; oboInOwl:hasExactSynonym "SZT2", "kiaa0467", "seizure threshold 2, mouse, homolog of", "szt2 subunit of kicstor complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23334 ; - skos:exactMatch HGNC_symbol:SZT2 ; + skos:exactMatch UMLS:C1825662, + UMLS:C2986382, + UMLS:C3809624, + HGNC:29040, + HGNC_symbol:SZT2 ; biolink:category biolink:Gene . OMIM:615464 a owl:Class ; @@ -335461,47 +349473,49 @@ OMIM:615464 a owl:Class ; IAO:0000142 PMID:23972372 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:174300 ; - oboInOwl:hasDbXref UMLS:C1539234, - UMLS:C1868118 ; oboInOwl:hasExactSynonym "DDX59", "dead-box helicase 59", "dead-box polypeptide 59" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83479 ; - skos:exactMatch HGNC_symbol:DDX59 ; + skos:exactMatch UMLS:C1539234, + UMLS:C1868118, + HGNC:25360, + HGNC_symbol:DDX59 ; biolink:category biolink:Gene . OMIM:615466 a owl:Class ; rdfs:label "TLNRD1" ; IAO:0000142 PMID:11247670, PMID:22179486 ; - oboInOwl:hasDbXref UMLS:C1422032 ; oboInOwl:hasExactSynonym "TLNRD1", "mesoderm development candidate 1", "talin rod domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59274 ; - skos:exactMatch HGNC_symbol:TLNRD1 ; + skos:exactMatch UMLS:C1422032, + HGNC:13519, + HGNC_symbol:TLNRD1 ; biolink:category biolink:Gene . OMIM:615467 a owl:Class ; rdfs:label "GLTPD1" ; IAO:0000142 PMID:23863933 ; - oboInOwl:hasDbXref UMLS:C2239498 ; oboInOwl:hasExactSynonym "GLTPD1", "ceramide-1-phosphate transfer protein", "gltp domain-containing protein 1", "glycolipid transfer protein domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80772 ; - skos:exactMatch HGNC_symbol:CPTP ; + skos:exactMatch UMLS:C2239498, + HGNC:28116, + HGNC_symbol:CPTP ; biolink:category biolink:Gene . OMIM:615469 a owl:Class ; rdfs:label "MIR574" ; IAO:0000142 PMID:22179486, PMID:22344312 ; - oboInOwl:hasDbXref UMLS:C1826153 ; oboInOwl:hasExactSynonym "MIR574", "micro RNA 574", "micro RNA 574-3p", @@ -335509,7 +349523,9 @@ OMIM:615469 a owl:Class ; "mirna574" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693159 ; - skos:exactMatch HGNC_symbol:MIR574 ; + skos:exactMatch UMLS:C1826153, + HGNC:32830, + HGNC_symbol:MIR574 ; biolink:category biolink:Gene . OMIM:615470 a owl:Class ; @@ -335517,7 +349533,6 @@ OMIM:615470 a owl:Class ; IAO:0000142 PMID:16395595, PMID:21976302, PMID:23575228 ; - oboInOwl:hasDbXref UMLS:C1824650 ; oboInOwl:hasExactSynonym "CEP89", "centrosomal protein 123", "centrosomal protein, 89-kd", @@ -335525,7 +349540,9 @@ OMIM:615470 a owl:Class ; "flj14640" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84902 ; - skos:exactMatch HGNC_symbol:CEP89 ; + skos:exactMatch UMLS:C1824650, + HGNC:25907, + HGNC_symbol:CEP89 ; biolink:category biolink:Gene . OMIM:615472 a owl:Class ; @@ -335534,13 +349551,14 @@ OMIM:615472 a owl:Class ; PMID:11056392, PMID:17360540, PMID:8276893 ; - oboInOwl:hasDbXref UMLS:C1413615 ; oboInOwl:hasExactSynonym "COPZ1", "coatomer protein complex, subunit zeta-1", "copz" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22818 ; - skos:exactMatch HGNC_symbol:COPZ1 ; + skos:exactMatch UMLS:C1413615, + HGNC:2243, + HGNC_symbol:COPZ1 ; biolink:category biolink:Gene . OMIM:615473 a owl:Class ; @@ -335548,58 +349566,61 @@ OMIM:615473 a owl:Class ; IAO:0000142 PMID:23993195, PMID:24700286, PMID:25966631 ; - oboInOwl:hasDbXref UMLS:C3809606, - ORPHA:1934 ; oboInOwl:hasExactSynonym "DEE17", "developmental and epileptic encephalopathy 17", "epileptic encephalopathy, early infantile, 17" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3809606, + ORPHA:1934 ; biolink:category biolink:Disease . OMIM:615474 a owl:Class ; rdfs:label "primary aldosteronism, seizures, and neurologic abnormalities" ; IAO:0000142 PMID:23913001 ; - oboInOwl:hasDbXref UMLS:C3809609 ; oboInOwl:hasExactSynonym "PASNA", "primary aldosteronism, seizures, and neurologic abnormalities" ; + skos:exactMatch UMLS:C3809609 ; biolink:category biolink:Disease . OMIM:615475 a owl:Class ; rdfs:label "DHX34" ; IAO:0000142 PMID:31256877, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1424505 ; oboInOwl:hasExactSynonym "DHX34", "deah-box polypeptide 34", "dexh-box helicase 34", "kiaa0134" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9704 ; - skos:exactMatch HGNC_symbol:DHX34 ; + skos:exactMatch UMLS:C1424505, + HGNC:16719, + HGNC_symbol:DHX34 ; biolink:category biolink:Gene . OMIM:615477 a owl:Class ; rdfs:label "NYAP1" ; IAO:0000142 PMID:21946561 ; - oboInOwl:hasDbXref UMLS:C3471330 ; oboInOwl:hasExactSynonym "NYAP1", "neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222950 ; - skos:exactMatch HGNC_symbol:NYAP1 ; + skos:exactMatch UMLS:C3471330, + HGNC:22009, + HGNC_symbol:NYAP1 ; biolink:category biolink:Gene . OMIM:615478 a owl:Class ; rdfs:label "NYAP2" ; IAO:0000142 PMID:10819331, PMID:21946561 ; - oboInOwl:hasDbXref UMLS:C3471331 ; oboInOwl:hasExactSynonym "NYAP2", "kiaa1486", "neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57624 ; - skos:exactMatch HGNC_symbol:NYAP2 ; + skos:exactMatch UMLS:C3471331, + HGNC:29291, + HGNC_symbol:NYAP2 ; biolink:category biolink:Gene . OMIM:615479 a owl:Class ; @@ -335607,7 +349628,6 @@ OMIM:615479 a owl:Class ; IAO:0000142 PMID:10048485, PMID:11588169, PMID:21946561 ; - oboInOwl:hasDbXref UMLS:C2239765 ; oboInOwl:hasExactSynonym "MYO16", "kiaa0865", "myosin 16", @@ -335615,13 +349635,14 @@ OMIM:615479 a owl:Class ; "neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23026 ; - skos:exactMatch HGNC_symbol:MYO16 ; + skos:exactMatch UMLS:C2239765, + HGNC:29822, + HGNC_symbol:MYO16 ; biolink:category biolink:Gene . OMIM:615480 a owl:Class ; rdfs:label "BLACAT1" ; IAO:0000142 PMID:23688781 ; - oboInOwl:hasDbXref UMLS:C3809633 ; oboInOwl:hasExactSynonym "BLACAT1", "bladder cancer-associated transcript 1, noncoding", "lincrna ubc1", @@ -335630,38 +349651,41 @@ OMIM:615480 a owl:Class ; "upregulated 1n bladder cancer 1, long intergenic noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101669762 ; - skos:exactMatch HGNC_symbol:BLACAT1 ; + skos:exactMatch UMLS:C3809633, + HGNC:48597, + HGNC_symbol:BLACAT1 ; biolink:category biolink:Gene . OMIM:615482 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 25" ; IAO:0000142 PMID:23872636 ; - oboInOwl:hasDbXref UMLS:C3809641 ; oboInOwl:hasExactSynonym "CILD25", "ciliary dyskinesia, primary, 25", "ciliary dyskinesia, primary, 25, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3809641 ; biolink:category biolink:Disease . OMIM:615483 a owl:Class ; rdfs:label "basal ganglia calcification, idiopathic, 5" ; IAO:0000142 PMID:21409505, PMID:23913003 ; - oboInOwl:hasDbXref UMLS:C3809645 ; oboInOwl:hasExactSynonym "IBGC5", "basal ganglia calcification, idiopathic, 5" ; rdfs:subClassOf OMIMPS:213600 ; + skos:exactMatch UMLS:C3809645 ; biolink:category biolink:Disease . OMIM:615484 a owl:Class ; rdfs:label "PTCD2" ; IAO:0000142 PMID:18729827 ; - oboInOwl:hasDbXref UMLS:C1428515 ; oboInOwl:hasExactSynonym "PTCD2", "pentatricopeptide repeat domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79810 ; - skos:exactMatch HGNC_symbol:PTCD2 ; + skos:exactMatch UMLS:C1428515, + HGNC:25734, + HGNC_symbol:PTCD2 ; biolink:category biolink:Gene . OMIM:615487 a owl:Class ; @@ -335669,8 +349693,6 @@ OMIM:615487 a owl:Class ; IAO:0000142 PMID:15199136, PMID:19763159, PMID:23598528 ; - oboInOwl:hasDbXref UMLS:C1822846, - UMLS:C2681775 ; oboInOwl:hasExactSynonym "SNORA2C", "aca34", "micro RNA 1291", @@ -335679,7 +349701,10 @@ OMIM:615487 a owl:Class ; "small nucleolar rna, h/aca box, 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677815 ; - skos:exactMatch HGNC_symbol:SNORA2C ; + skos:exactMatch UMLS:C1822846, + UMLS:C2681775, + HGNC:32624, + HGNC_symbol:SNORA2C ; biolink:category biolink:Gene . OMIM:615488 a owl:Class ; @@ -335687,14 +349712,15 @@ OMIM:615488 a owl:Class ; IAO:0000142 PMID:14637001, PMID:19763159, PMID:20018852 ; - oboInOwl:hasDbXref UMLS:C3470530 ; oboInOwl:hasExactSynonym "KANSL2", "chromosome 12 open reading frame 41", "kat8 regulatory nsl complex, subunit 2", "nonspecific lethal 2, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54934 ; - skos:exactMatch HGNC_symbol:KANSL2 ; + skos:exactMatch UMLS:C3470530, + HGNC:26024, + HGNC_symbol:KANSL2 ; biolink:category biolink:Gene . OMIM:615491 a owl:Class ; @@ -335705,22 +349731,22 @@ OMIM:615491 a owl:Class ; PMID:3340629, PMID:4514348, PMID:7558041 ; - oboInOwl:hasDbXref UMLS:C3809665 ; oboInOwl:hasExactSynonym "SPG79", "neurodegeneration with optic atrophy, childhood-onset", "spastic paraplegia 79, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3809665 ; biolink:category biolink:Disease . OMIM:615492 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:23907535 ; - oboInOwl:hasDbXref UMLS:C3809671 ; oboInOwl:hasExactSynonym "lincrna cox2", "lncrna cox2", "long intergenic noncoding RNA cox2", "long noncoding RNA cox2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C3809671 ; biolink:category biolink:Gene . OMIM:615494 a owl:Class ; @@ -335729,15 +349755,16 @@ OMIM:615494 a owl:Class ; PMID:24094744 ; RO:0002525 CHR:9606chr21q22.11 ; RO:0003303 OMIM:615500 ; - oboInOwl:hasDbXref UMLS:C1412981, - UMLS:C4017383, - UMLS:C4017384 ; oboInOwl:hasExactSynonym "CFAP298", "chromosome 21 open reading frame 59", "cilia- and flagella-associated protein 298" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56683 ; - skos:exactMatch HGNC_symbol:CFAP298 ; + skos:exactMatch UMLS:C1412981, + UMLS:C4017383, + UMLS:C4017384, + HGNC:1301, + HGNC_symbol:CFAP298 ; biolink:category biolink:Gene . OMIM:615495 a owl:Class ; @@ -335745,14 +349772,15 @@ OMIM:615495 a owl:Class ; IAO:0000142 PMID:24035193 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:615510 ; - oboInOwl:hasDbXref UMLS:C1539585 ; oboInOwl:hasExactSynonym "GMPPA", "gdp-mannose pyrophosphorylase a", "gdp-mannose pyrophosphorylase, alpha subunit", "gmpp-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29926 ; - skos:exactMatch HGNC_symbol:GMPPA ; + skos:exactMatch UMLS:C1539585, + HGNC:22923, + HGNC_symbol:GMPPA ; biolink:category biolink:Gene . OMIM:615496 a owl:Class ; @@ -335762,13 +349790,14 @@ OMIM:615496 a owl:Class ; PMID:25416787 ; RO:0002525 CHR:9606chr15q25.3 ; RO:0003303 OMIM:615523 ; - oboInOwl:hasDbXref UMLS:C1540192 ; oboInOwl:hasExactSynonym "AGBL1", "atp/gtp-binding protein-like 1", "cytosolic carboxypeptidase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123624 ; - skos:exactMatch HGNC_symbol:AGBL1 ; + skos:exactMatch UMLS:C1540192, + HGNC:26504, + HGNC_symbol:AGBL1 ; biolink:category biolink:Gene . OMIM:615497 a owl:Class ; @@ -335776,14 +349805,15 @@ OMIM:615497 a owl:Class ; IAO:0000142 PMID:21508961, PMID:21701560, PMID:23921378 ; - oboInOwl:hasDbXref UMLS:C1822784 ; oboInOwl:hasExactSynonym "MIEF1", "mitochondrial dynamics protein, 51-kd", "mitochondrial elongation factor 1", "smcr7-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54471 ; - skos:exactMatch HGNC_symbol:MIEF1 ; + skos:exactMatch UMLS:C1822784, + HGNC:25979, + HGNC_symbol:MIEF1 ; biolink:category biolink:Gene . OMIM:615498 a owl:Class ; @@ -335793,15 +349823,16 @@ OMIM:615498 a owl:Class ; PMID:29361167 ; RO:0002525 CHR:9606chr17p11.2 ; RO:0003303 OMIM:619024 ; - oboInOwl:hasDbXref UMLS:C1425177, - UMLS:C5436616 ; oboInOwl:hasExactSynonym "MIEF2", "mitochondrial dynamics protein, 49-kd", "mitochondrial elongation factor 2", "smith-magenis syndrome chromosome region, candidate gene 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125170 ; - skos:exactMatch HGNC_symbol:MIEF2 ; + skos:exactMatch UMLS:C1425177, + UMLS:C5436616, + HGNC:17920, + HGNC_symbol:MIEF2 ; biolink:category biolink:Gene . OMIM:615499 a owl:Class ; @@ -335809,13 +349840,14 @@ OMIM:615499 a owl:Class ; IAO:0000142 PMID:10718198, PMID:20208177, PMID:9651365 ; - oboInOwl:hasDbXref UMLS:C2829996 ; oboInOwl:hasExactSynonym "PDP2", "kiaa1348", "pyruvate dehydrogenase phosphatase catalytic subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57546 ; - skos:exactMatch HGNC_symbol:PDP2 ; + skos:exactMatch UMLS:C2829996, + HGNC:30263, + HGNC_symbol:PDP2 ; biolink:category biolink:Gene . OMIM:615507 a owl:Class ; @@ -335826,24 +349858,25 @@ OMIM:615507 a owl:Class ; PMID:23572524, PMID:28806779, PMID:9851558 ; - oboInOwl:hasDbXref UMLS:C1425233 ; oboInOwl:hasExactSynonym "NISCH", "imidazoline receptor antisera-selected", "kiaa0975", "nischarin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11188 ; - skos:exactMatch HGNC_symbol:NISCH ; + skos:exactMatch UMLS:C1425233, + HGNC:18006, + HGNC_symbol:NISCH ; biolink:category biolink:Gene . OMIM:615508 a owl:Class ; rdfs:label "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige" ; IAO:0000142 PMID:23974871 ; - oboInOwl:hasDbXref UMLS:C3809719 ; oboInOwl:hasExactSynonym "EPKHE", "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige", "sam syndrome", "severe dermatitis, multiple allergies, and metabolic wasting syndrome" ; + skos:exactMatch UMLS:C3809719 ; biolink:category biolink:Disease . OMIM:615509 a owl:Class ; @@ -335851,13 +349884,14 @@ OMIM:615509 a owl:Class ; IAO:0000142 PMID:17237358, PMID:20529846, PMID:22832245 ; - oboInOwl:hasDbXref UMLS:C2239705 ; oboInOwl:hasExactSynonym "MIR675", "micro RNA 675", "mirna675" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100033819 ; - skos:exactMatch HGNC_symbol:MIR675 ; + skos:exactMatch UMLS:C2239705, + HGNC:33351, + HGNC_symbol:MIR675 ; biolink:category biolink:Gene . OMIM:615513 a owl:Class ; @@ -335867,12 +349901,12 @@ OMIM:615513 a owl:Class ; PMID:24136356, PMID:24165795, PMID:24610295 ; - oboInOwl:hasDbXref UMLS:C3714976 ; oboInOwl:hasExactSynonym "IMD14A", "activated pi3k-delta syndrome", "immunodeficiency 14a, autosomal dominant", "p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3714976 ; biolink:category biolink:Disease . OMIM:615514 a owl:Class ; @@ -335884,7 +349918,6 @@ OMIM:615514 a owl:Class ; PMID:22988298, PMID:26659056, PMID:30487607 ; - oboInOwl:hasDbXref UMLS:C1824794 ; oboInOwl:hasExactSynonym "CDK12", "cdc2-related kinase with an arginine/serine-rich domain", "cdc2-related protein kinase 7", @@ -335892,43 +349925,47 @@ OMIM:615514 a owl:Class ; "kiaa0904" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51755 ; - skos:exactMatch HGNC_symbol:CDK12 ; + skos:exactMatch UMLS:C1824794, + HGNC:24224, + HGNC_symbol:CDK12 ; biolink:category biolink:Gene . OMIM:615516 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 38" ; IAO:0000142 PMID:23065719, PMID:23243086 ; - oboInOwl:hasDbXref UMLS:C3809753 ; oboInOwl:hasExactSynonym "MRT38", "intellectual developmental disorder, autosomal recessive 38", "mental retardation, autosomal recessive 38" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3809753 ; biolink:category biolink:Disease . OMIM:615519 a owl:Class ; rdfs:label "TOM1L2" ; IAO:0000142 PMID:16412388 ; - oboInOwl:hasDbXref UMLS:C1420856 ; oboInOwl:hasExactSynonym "TOM1L2", "target of myb1-like 2 membrane trafficking protein", "tom1-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146691 ; - skos:exactMatch HGNC_symbol:TOM1L2 ; + skos:exactMatch UMLS:C1420856, + HGNC:11984, + HGNC_symbol:TOM1L2 ; biolink:category biolink:Gene . OMIM:615520 a owl:Class ; rdfs:label "MIR297" ; IAO:0000142 PMID:22344312, PMID:22676135 ; - oboInOwl:hasDbXref UMLS:C2239690 ; oboInOwl:hasExactSynonym "MIR297", "micro RNA 297", "mirna297" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126354 ; - skos:exactMatch HGNC_symbol:MIR297 ; + skos:exactMatch UMLS:C2239690, + HGNC:33691, + HGNC_symbol:MIR297 ; biolink:category biolink:Gene . OMIM:615521 a owl:Class ; @@ -335939,13 +349976,14 @@ OMIM:615521 a owl:Class ; PMID:30168660 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:255995 ; - oboInOwl:hasDbXref UMLS:C1539880, - UMLS:C1850625 ; oboInOwl:hasExactSynonym "STAC3", "sh3 and cysteine-rich domains 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246329 ; - skos:exactMatch HGNC_symbol:STAC3 ; + skos:exactMatch UMLS:C1539880, + UMLS:C1850625, + HGNC:28423, + HGNC_symbol:STAC3 ; biolink:category biolink:Gene . OMIM:615522 a owl:Class ; @@ -335953,10 +349991,10 @@ OMIM:615522 a owl:Class ; IAO:0000142 PMID:132904, PMID:19380683, PMID:24075184 ; - oboInOwl:hasDbXref UMLS:C3809781 ; oboInOwl:hasExactSynonym "COLED", "cole disease", "guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification" ; + skos:exactMatch UMLS:C3809781 ; biolink:category biolink:Disease . OMIM:615525 a owl:Class ; @@ -335964,36 +350002,38 @@ OMIM:615525 a owl:Class ; IAO:0000142 PMID:11018518, PMID:11056392, PMID:17360540 ; - oboInOwl:hasDbXref UMLS:C1413610 ; oboInOwl:hasExactSynonym "COPG1", "coatomer protein complex, subunit gamma-1", "cop, gamma-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22820 ; - skos:exactMatch HGNC_symbol:COPG1 ; + skos:exactMatch UMLS:C1413610, + HGNC:2236, + HGNC_symbol:COPG1 ; biolink:category biolink:Gene . OMIM:615526 a owl:Class ; rdfs:label "COPZ2" ; IAO:0000142 PMID:11056392, PMID:17360540 ; - oboInOwl:hasDbXref UMLS:C1426188 ; oboInOwl:hasExactSynonym "COPZ2", "coatomer protein complex, subunit zeta-2", "cop, zeta-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51226 ; - skos:exactMatch HGNC_symbol:COPZ2 ; + skos:exactMatch UMLS:C1426188, + HGNC:19356, + HGNC_symbol:COPZ2 ; biolink:category biolink:Gene . OMIM:615527 a owl:Class ; rdfs:label "candidiasis, familial, 8" ; IAO:0000142 PMID:24120361 ; - oboInOwl:hasDbXref UMLS:C3714992 ; oboInOwl:hasExactSynonym "CANDF8", "candidiasis, familial chronic mucocutaneous, autosomal recessive", "candidiasis, familial, 8" ; rdfs:subClassOf OMIMPS:114580 ; + skos:exactMatch UMLS:C3714992 ; biolink:category biolink:Disease . OMIM:615531 a owl:Class ; @@ -336001,13 +350041,14 @@ OMIM:615531 a owl:Class ; IAO:0000142 PMID:21571633, PMID:24060273, PMID:24084074 ; - oboInOwl:hasDbXref UMLS:C1823340 ; oboInOwl:hasExactSynonym "TMEM79", "mattrin, mouse, homolog of", "transmembrane protein 79" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84283 ; - skos:exactMatch HGNC_symbol:TMEM79 ; + skos:exactMatch UMLS:C1823340, + HGNC:28196, + HGNC_symbol:TMEM79 ; biolink:category biolink:Gene . OMIM:615532 a owl:Class ; @@ -336015,13 +350056,14 @@ OMIM:615532 a owl:Class ; IAO:0000142 PMID:24056535 ; RO:0002525 CHR:9606chr6q27 ; RO:0003303 OMIM:615544 ; - oboInOwl:hasDbXref UMLS:C1427278 ; oboInOwl:hasExactSynonym "ERMARD", "chromosome 6 open reading frame 70", "endoplasmic reticulum membrane-associated RNA degradation protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55780 ; - skos:exactMatch HGNC_symbol:ERMARD ; + skos:exactMatch UMLS:C1427278, + HGNC:21056, + HGNC_symbol:ERMARD ; biolink:category biolink:Gene . OMIM:615533 a owl:Class ; @@ -336032,12 +350074,13 @@ OMIM:615533 a owl:Class ; PMID:27374774 ; RO:0002525 CHR:9606chr11q14.1 ; RO:0003303 OMIM:618250 ; - oboInOwl:hasDbXref UMLS:C1823385 ; oboInOwl:hasExactSynonym "TMEM126B", "transmembrane protein 126b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55863 ; - skos:exactMatch HGNC_symbol:TMEM126B ; + skos:exactMatch UMLS:C1823385, + HGNC:30883, + HGNC_symbol:TMEM126B ; biolink:category biolink:Gene . OMIM:615534 a owl:Class ; @@ -336048,14 +350091,15 @@ OMIM:615534 a owl:Class ; PMID:28604674 ; RO:0002525 CHR:9606chr3q13.33 ; RO:0003303 OMIM:618251 ; - oboInOwl:hasDbXref UMLS:C3469994 ; oboInOwl:hasExactSynonym "TIMMDC1", "chromosome 3 open reading frame 1", "timm domain containing-protein 1", "translocase of inner mitochondrial membrane domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51300 ; - skos:exactMatch HGNC_symbol:TIMMDC1 ; + skos:exactMatch UMLS:C3469994, + HGNC:1321, + HGNC_symbol:TIMMDC1 ; biolink:category biolink:Gene . OMIM:615535 a owl:Class ; @@ -336064,7 +350108,6 @@ OMIM:615535 a owl:Class ; PMID:23348741 ; RO:0002525 CHR:9606chr19q13.12 ; RO:0003303 OMIM:615540 ; - oboInOwl:hasDbXref UMLS:C1824487 ; oboInOwl:hasExactSynonym "SYNE4", "chromosome 19 open reading frame 46", "nesprin 4", @@ -336072,19 +350115,22 @@ OMIM:615535 a owl:Class ; "spectrin repeat-containing nuclear envelope protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163183 ; - skos:exactMatch HGNC_symbol:SYNE4 ; + skos:exactMatch UMLS:C1824487, + HGNC:26703, + HGNC_symbol:SYNE4 ; biolink:category biolink:Gene . OMIM:615536 a owl:Class ; rdfs:label "C2ORF80" ; IAO:0000142 PMID:24055526 ; - oboInOwl:hasDbXref UMLS:C2681205 ; oboInOwl:hasExactSynonym "C2ORF80", "chromosome 2 open reading frame 80", "gonad development-associated gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389073 ; - skos:exactMatch HGNC_symbol:C2orf80 ; + skos:exactMatch UMLS:C2681205, + HGNC:34352, + HGNC_symbol:C2orf80 ; biolink:category biolink:Gene . OMIM:615537 a owl:Class ; @@ -336094,33 +350140,34 @@ OMIM:615537 a owl:Class ; PMID:23666529, PMID:6386246, PMID:823955 ; - oboInOwl:hasDbXref UMLS:C0406811 ; oboInOwl:hasExactSynonym "RAK", "acropigmentatio reticularis", "kitamura reticulate acropigmentation", "reticulate acropigmentation of kitamura", "reticulate pigmentation of kitamura" ; rdfs:subClassOf OMIMPS:179850 ; + skos:exactMatch UMLS:C0406811 ; biolink:category biolink:Disease . OMIM:615542 a owl:Class ; rdfs:label "testicular anomalies with or without congenital heart disease" ; IAO:0000142 PMID:21220346 ; - oboInOwl:hasDbXref UMLS:C3809858 ; oboInOwl:hasExactSynonym "TACHD", "testicular anomalies with or without congenital heart disease" ; + skos:exactMatch UMLS:C3809858 ; biolink:category biolink:Disease . OMIM:615543 a owl:Class ; rdfs:label "ARPIN" ; IAO:0000142 PMID:24132237 ; - oboInOwl:hasDbXref UMLS:C1824402 ; oboInOwl:hasExactSynonym "ARPIN", "actin-related protein 2/3 complex inhibitor", "chromosome 15 open reading frame 38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348110 ; - skos:exactMatch HGNC_symbol:ARPIN ; + skos:exactMatch UMLS:C1824402, + HGNC:28782, + HGNC_symbol:ARPIN ; biolink:category biolink:Gene . OMIM:615549 a owl:Class ; @@ -336131,12 +350178,13 @@ OMIM:615549 a owl:Class ; PMID:24905064 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:615954 ; - oboInOwl:hasDbXref UMLS:C1538935 ; oboInOwl:hasExactSynonym "ARMC5", "armadillo repeat-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79798 ; - skos:exactMatch HGNC_symbol:ARMC5 ; + skos:exactMatch UMLS:C1538935, + HGNC:25781, + HGNC_symbol:ARMC5 ; biolink:category biolink:Gene . OMIM:615552 a owl:Class ; @@ -336144,10 +350192,10 @@ OMIM:615552 a owl:Class ; IAO:0000142 PMID:21698661, PMID:24207120, PMID:24776970 ; - oboInOwl:hasDbXref UMLS:C3809899 ; oboInOwl:hasExactSynonym "FEPS3", "episodic pain syndrome, familial, 3" ; rdfs:subClassOf OMIMPS:615040 ; + skos:exactMatch UMLS:C3809899 ; biolink:category biolink:Disease . OMIM:615555 a owl:Class ; @@ -336159,9 +350207,9 @@ OMIM:615555 a owl:Class ; PMID:24597879, PMID:24597880, PMID:30575453 ; - oboInOwl:hasDbXref UMLS:C0020514 ; oboInOwl:hasExactSynonym "HPRL", "hyperprolactinemia" ; + skos:exactMatch UMLS:C0020514 ; biolink:category biolink:Disease . OMIM:615556 a owl:Class ; @@ -336174,7 +350222,6 @@ OMIM:615556 a owl:Class ; PMID:24906155, PMID:28428427, PMID:30953095 ; - oboInOwl:hasDbXref UMLS:C1427398 ; oboInOwl:hasExactSynonym "ATAT1", "alpha-tat1", "alpha-tubulin acetyltransferase 1", @@ -336184,25 +350231,27 @@ OMIM:615556 a owl:Class ; "tubulin, alpha, acetyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79969 ; - skos:exactMatch HGNC_symbol:ATAT1 ; + skos:exactMatch UMLS:C1427398, + HGNC:21186, + HGNC_symbol:ATAT1 ; biolink:category biolink:Gene . OMIM:615557 a owl:Class ; rdfs:label "melioidosis, susceptibility to" ; IAO:0000142 PMID:23447684 ; - oboInOwl:hasDbXref UMLS:C3715193, - UMLS:C3809925 ; oboInOwl:hasExactSynonym "melioidosis, resistance to", "melioidosis, susceptibility to" ; + skos:exactMatch UMLS:C3715193, + UMLS:C3809925 ; biolink:category biolink:Disease . OMIM:615561 a owl:Class ; rdfs:label "complement factor B deficiency" ; IAO:0000142 PMID:24152280, PMID:6898304 ; - oboInOwl:hasDbXref UMLS:C3809950 ; oboInOwl:hasExactSynonym "CFBD", "complement factor B deficiency" ; + skos:exactMatch UMLS:C3809950 ; biolink:category biolink:Disease . OMIM:615562 a owl:Class ; @@ -336212,14 +350261,15 @@ OMIM:615562 a owl:Class ; PMID:18055457, PMID:18361916, PMID:23953116 ; - oboInOwl:hasDbXref UMLS:C1422002 ; oboInOwl:hasExactSynonym "SPAG5", "astrin", "mitotic spindle-associated protein, 126-kd", "sperm-associated antigen 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10615 ; - skos:exactMatch HGNC_symbol:SPAG5 ; + skos:exactMatch UMLS:C1422002, + HGNC:13452, + HGNC_symbol:SPAG5 ; biolink:category biolink:Gene . OMIM:615563 a owl:Class ; @@ -336227,12 +350277,13 @@ OMIM:615563 a owl:Class ; IAO:0000142 PMID:17079202, PMID:18619852, PMID:24140112 ; - oboInOwl:hasDbXref UMLS:C1538485 ; oboInOwl:hasExactSynonym "NRBP2", "nuclear receptor-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340371 ; - skos:exactMatch HGNC_symbol:NRBP2 ; + skos:exactMatch UMLS:C1538485, + HGNC:19339, + HGNC_symbol:NRBP2 ; biolink:category biolink:Gene . OMIM:615564 a owl:Class ; @@ -336241,12 +350292,13 @@ OMIM:615564 a owl:Class ; PMID:24119684 ; RO:0002525 CHR:9606chr10q26.11 ; RO:0003303 OMIM:615578 ; - oboInOwl:hasDbXref UMLS:C1423969 ; oboInOwl:hasExactSynonym "SFXN4", "sideroflexin 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119559 ; - skos:exactMatch HGNC_symbol:SFXN4 ; + skos:exactMatch UMLS:C1423969, + HGNC:16088, + HGNC_symbol:SFXN4 ; biolink:category biolink:Gene . OMIM:615566 a owl:Class ; @@ -336254,13 +350306,14 @@ OMIM:615566 a owl:Class ; IAO:0000142 PMID:10231032, PMID:21720722, PMID:24179155 ; - oboInOwl:hasDbXref UMLS:C1423776 ; oboInOwl:hasExactSynonym "BTBD3", "btb/poz domain-containing protein 3", "kiaa0952" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22903 ; - skos:exactMatch HGNC_symbol:BTBD3 ; + skos:exactMatch UMLS:C1423776, + HGNC:15854, + HGNC_symbol:BTBD3 ; biolink:category biolink:Gene . OMIM:615567 a owl:Class ; @@ -336268,20 +350321,20 @@ OMIM:615567 a owl:Class ; IAO:0000142 PMID:24270420 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:615573 ; - oboInOwl:hasDbXref UMLS:C1425974 ; oboInOwl:hasExactSynonym "COQ8B", "aarf domain-containing kinase 4", "coenzyme q8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79934 ; - skos:exactMatch HGNC_symbol:COQ8B ; + skos:exactMatch UMLS:C1425974, + HGNC:19041, + HGNC_symbol:COQ8B ; biolink:category biolink:Gene . OMIM:615568 a owl:Class ; rdfs:label "SCHLAP1" ; IAO:0000142 PMID:24076601, PMID:30510238 ; - oboInOwl:hasDbXref UMLS:C3809964 ; oboInOwl:hasExactSynonym "SCHLAP1", "lincrna 913", "long intergenic noncoding RNA 913", @@ -336290,54 +350343,60 @@ OMIM:615568 a owl:Class ; "swi/snf complex antagonist associated with prostate cancer 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101669767 ; - skos:exactMatch HGNC_symbol:SCHLAP1 ; + skos:exactMatch UMLS:C3809964, + HGNC:48603, + HGNC_symbol:SCHLAP1 ; biolink:category biolink:Gene . OMIM:615569 a owl:Class ; rdfs:label "SFXN1" ; IAO:0000142 PMID:11274051, PMID:30442778 ; - oboInOwl:hasDbXref UMLS:C1423966 ; oboInOwl:hasExactSynonym "SFXN1", "sideroflexin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94081 ; - skos:exactMatch HGNC_symbol:SFXN1 ; + skos:exactMatch UMLS:C1423966, + HGNC:16085, + HGNC_symbol:SFXN1 ; biolink:category biolink:Gene . OMIM:615570 a owl:Class ; rdfs:label "SFXN2" ; IAO:0000142 PMID:12670026 ; - oboInOwl:hasDbXref UMLS:C1423967 ; oboInOwl:hasExactSynonym "SFXN2", "sideroflexin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118980 ; - skos:exactMatch HGNC_symbol:SFXN2 ; + skos:exactMatch UMLS:C1423967, + HGNC:16086, + HGNC_symbol:SFXN2 ; biolink:category biolink:Gene . OMIM:615571 a owl:Class ; rdfs:label "SFXN3" ; IAO:0000142 PMID:11274051, PMID:30442778 ; - oboInOwl:hasDbXref UMLS:C1423968 ; oboInOwl:hasExactSynonym "SFXN3", "sideroflexin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81855 ; - skos:exactMatch HGNC_symbol:SFXN3 ; + skos:exactMatch UMLS:C1423968, + HGNC:16087, + HGNC_symbol:SFXN3 ; biolink:category biolink:Gene . OMIM:615572 a owl:Class ; rdfs:label "SFXN5" ; IAO:0000142 PMID:12039050, PMID:12150972 ; - oboInOwl:hasDbXref UMLS:C1423957 ; oboInOwl:hasExactSynonym "SFXN5", "sideroflexin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94097 ; - skos:exactMatch HGNC_symbol:SFXN5 ; + skos:exactMatch UMLS:C1423957, + HGNC:16073, + HGNC_symbol:SFXN5 ; biolink:category biolink:Gene . OMIM:615576 a owl:Class ; @@ -336346,7 +350405,6 @@ OMIM:615576 a owl:Class ; PMID:21832077, PMID:23459944, PMID:23699394 ; - oboInOwl:hasDbXref UMLS:C1537819 ; oboInOwl:hasExactSynonym "MIR185", "micro RNA 185", "micro RNA 185*", @@ -336355,30 +350413,34 @@ OMIM:615576 a owl:Class ; "mirna185" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406961 ; - skos:exactMatch HGNC_symbol:MIR185 ; + skos:exactMatch UMLS:C1537819, + HGNC:31556, + HGNC_symbol:MIR185 ; biolink:category biolink:Gene . OMIM:615579 a owl:Class ; rdfs:label "ATXN7L3B" ; IAO:0000142 PMID:23475819 ; - oboInOwl:hasDbXref UMLS:C2828823 ; oboInOwl:hasExactSynonym "ATXN7L3B", "ataxin 7-like 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:552889 ; - skos:exactMatch HGNC_symbol:ATXN7L3B ; + skos:exactMatch UMLS:C2828823, + HGNC:37931, + HGNC_symbol:ATXN7L3B ; biolink:category biolink:Gene . OMIM:615580 a owl:Class ; rdfs:label "ZNF528" ; IAO:0000142 PMID:11347906 ; - oboInOwl:hasDbXref UMLS:C1428849 ; oboInOwl:hasExactSynonym "ZNF528", "kiaa1827", "zinc finger protein 528" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84436 ; - skos:exactMatch HGNC_symbol:ZNF528 ; + skos:exactMatch UMLS:C1428849, + HGNC:29384, + HGNC_symbol:ZNF528 ; biolink:category biolink:Gene . OMIM:615581 a owl:Class ; @@ -336386,13 +350448,14 @@ OMIM:615581 a owl:Class ; IAO:0000142 PMID:18723017, PMID:19829708, PMID:24145033 ; - oboInOwl:hasDbXref UMLS:C3147131 ; oboInOwl:hasExactSynonym "DUX4L9", "double homeobox 4-like 9", "dux4c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100288711 ; - skos:exactMatch HGNC_symbol:DUX4L9 ; + skos:exactMatch UMLS:C3147131, + HGNC:33855, + HGNC_symbol:DUX4L9 ; biolink:category biolink:Gene . OMIM:615584 a owl:Class ; @@ -336401,12 +350464,13 @@ OMIM:615584 a owl:Class ; PMID:24268661 ; RO:0002525 CHR:9606chr11q12.1 ; RO:0003303 OMIM:615704 ; - oboInOwl:hasDbXref UMLS:C1825242 ; oboInOwl:hasExactSynonym "FAM111B", "family with sequence similarity 111, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374393 ; - skos:exactMatch HGNC_symbol:FAM111B ; + skos:exactMatch UMLS:C1825242, + HGNC:24200, + HGNC_symbol:FAM111B ; biolink:category biolink:Gene . OMIM:615585 a owl:Class ; @@ -336418,12 +350482,13 @@ OMIM:615585 a owl:Class ; PMID:24290379 ; RO:0002525 CHR:9606chr16q23.3 ; RO:0003303 OMIM:609218 ; - oboInOwl:hasDbXref UMLS:C2239931 ; oboInOwl:hasExactSynonym "SLC38A8", "solute carrier family 38 (amino acid transporter), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146167 ; - skos:exactMatch HGNC_symbol:SLC38A8 ; + skos:exactMatch UMLS:C2239931, + HGNC:32434, + HGNC_symbol:SLC38A8 ; biolink:category biolink:Gene . OMIM:615586 a owl:Class ; @@ -336434,13 +350499,14 @@ OMIM:615586 a owl:Class ; PMID:28625565 ; RO:0002525 CHR:9606chr3q29 ; RO:0003303 OMIM:615703 ; - oboInOwl:hasDbXref UMLS:C1824130 ; oboInOwl:hasExactSynonym "CEP19", "centrosomal protein, 19-kd", "chromosome 3 open reading frame 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84984 ; - skos:exactMatch HGNC_symbol:CEP19 ; + skos:exactMatch UMLS:C1824130, + HGNC:28209, + HGNC_symbol:CEP19 ; biolink:category biolink:Gene . OMIM:615587 a owl:Class ; @@ -336454,35 +350520,36 @@ OMIM:615587 a owl:Class ; PMID:8724849 ; RO:0002525 CHR:9606chr9q34.11 ; RO:0003303 OMIM:618804 ; - oboInOwl:hasDbXref UMLS:C1425136, - UMLS:C5394118 ; oboInOwl:hasExactSynonym "NUP188", "kiaa1069", "nucleoporin, 188-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23511 ; - skos:exactMatch HGNC_symbol:NUP188 ; + skos:exactMatch UMLS:C1425136, + UMLS:C5394118, + HGNC:17859, + HGNC_symbol:NUP188 ; biolink:category biolink:Gene . OMIM:615588 a owl:Class ; rdfs:label "SMDT1" ; IAO:0000142 PMID:24231807, PMID:27642048 ; - oboInOwl:hasDbXref UMLS:C1824513 ; oboInOwl:hasExactSynonym "SMDT1", "chromosome 22 open reading frame 32", "essential mcu regulator", "single-pass membrane protein with aspartate-rich tail 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91689 ; - skos:exactMatch HGNC_symbol:SMDT1 ; + skos:exactMatch UMLS:C1824513, + HGNC:25055, + HGNC_symbol:SMDT1 ; biolink:category biolink:Gene . OMIM:615594 a owl:Class ; rdfs:label "APELA" ; IAO:0000142 PMID:24316148, PMID:28663440 ; - oboInOwl:hasDbXref UMLS:C3810054 ; oboInOwl:hasExactSynonym "APELA", "apelin receptor early endogenous ligand", "ela", @@ -336491,62 +350558,68 @@ OMIM:615594 a owl:Class ; "toddler" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506013 ; - skos:exactMatch HGNC_symbol:APELA ; + skos:exactMatch UMLS:C3810054, + HGNC:48925, + HGNC_symbol:APELA ; biolink:category biolink:Gene . OMIM:615600 a owl:Class ; rdfs:label "ZNF582" ; IAO:0000142 PMID:22815913, PMID:24123876 ; - oboInOwl:hasDbXref UMLS:C1428586 ; oboInOwl:hasExactSynonym "ZNF582", "zinc finger protein 582" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147948 ; - skos:exactMatch HGNC_symbol:ZNF582 ; + skos:exactMatch UMLS:C1428586, + HGNC:26421, + HGNC_symbol:ZNF582 ; biolink:category biolink:Gene . OMIM:615601 a owl:Class ; rdfs:label "GADL1" ; IAO:0000142 PMID:23038267 ; - oboInOwl:hasDbXref UMLS:C1539545 ; oboInOwl:hasExactSynonym "GADL1", "glutamate decarboxylase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339896 ; - skos:exactMatch HGNC_symbol:GADL1 ; + skos:exactMatch UMLS:C1539545, + HGNC:27949, + HGNC_symbol:GADL1 ; biolink:category biolink:Gene . OMIM:615603 a owl:Class ; rdfs:label "CPPED1" ; IAO:0000142 PMID:23939394 ; - oboInOwl:hasDbXref UMLS:C2681368 ; oboInOwl:hasExactSynonym "CPPED1", "calcineurin-like phosphoesterase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55313 ; - skos:exactMatch HGNC_symbol:CPPED1 ; + skos:exactMatch UMLS:C2681368, + HGNC:25632, + HGNC_symbol:CPPED1 ; biolink:category biolink:Gene . OMIM:615604 a owl:Class ; rdfs:label "l-ferritin deficiency" ; IAO:0000142 PMID:15173247, PMID:23940258 ; - oboInOwl:hasDbXref UMLS:C3810090 ; oboInOwl:hasExactSynonym "LFTD", "l-ferritin deficiency" ; + skos:exactMatch UMLS:C3810090 ; biolink:category biolink:Disease . OMIM:615606 a owl:Class ; rdfs:label "BTNL8" ; IAO:0000142 PMID:24036152 ; - oboInOwl:hasDbXref UMLS:C1428553 ; oboInOwl:hasExactSynonym "BTNL8", "btn9.2", "butyrophilin-like protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79908 ; - skos:exactMatch HGNC_symbol:BTNL8 ; + skos:exactMatch UMLS:C1428553, + HGNC:26131, + HGNC_symbol:BTNL8 ; biolink:category biolink:Gene . OMIM:615608 a owl:Class ; @@ -336555,7 +350628,6 @@ OMIM:615608 a owl:Class ; PMID:30220083, PMID:31645726, PMID:31949051 ; - oboInOwl:hasDbXref UMLS:C1824302 ; oboInOwl:hasExactSynonym "VSIR", "b7h5", "chromosome 10 open reading frame 54", @@ -336565,31 +350637,35 @@ OMIM:615608 a owl:Class ; "v-set immunoregulatory receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64115 ; - skos:exactMatch HGNC_symbol:VSIR ; + skos:exactMatch UMLS:C1824302, + HGNC:30085, + HGNC_symbol:VSIR ; biolink:category biolink:Gene . OMIM:615609 a owl:Class ; rdfs:label "SIAH3" ; IAO:0000142 PMID:21147910, PMID:24270810 ; - oboInOwl:hasDbXref UMLS:C2680381 ; oboInOwl:hasExactSynonym "SIAH3", "seven 1n absentia, drosophila, homolog of, 3", "siah e3 ubiquitin protein ligase family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283514 ; - skos:exactMatch HGNC_symbol:SIAH3 ; + skos:exactMatch UMLS:C2680381, + HGNC:30553, + HGNC_symbol:SIAH3 ; biolink:category biolink:Gene . OMIM:615610 a owl:Class ; rdfs:label "CDHR3" ; IAO:0000142 PMID:24241537 ; - oboInOwl:hasDbXref UMLS:C2828961 ; oboInOwl:hasExactSynonym "CDHR3", "cadherin-related family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222256 ; - skos:exactMatch HGNC_symbol:CDHR3 ; + skos:exactMatch UMLS:C2828961, + HGNC:26308, + HGNC_symbol:CDHR3 ; biolink:category biolink:Gene . OMIM:615611 a owl:Class ; @@ -336602,25 +350678,27 @@ OMIM:615611 a owl:Class ; PMID:28874591 ; RO:0002525 CHR:9606chr15q22.31 ; RO:0003303 OMIM:618015 ; - oboInOwl:hasDbXref UMLS:C1413508 ; oboInOwl:hasExactSynonym "CLPX", "caseinolytic mitochondrial matrix peptidase chaperone subunit", "clpx, e. coli, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10845 ; - skos:exactMatch HGNC_symbol:CLPX ; + skos:exactMatch UMLS:C1413508, + HGNC:2088, + HGNC_symbol:CLPX ; biolink:category biolink:Gene . OMIM:615613 a owl:Class ; rdfs:label "HCCAT5" ; IAO:0000142 PMID:23314567 ; - oboInOwl:hasDbXref UMLS:C3810126 ; oboInOwl:hasExactSynonym "HCCAT5", "hepatocellular carcinoma-associated transcript 5", "hepatoma-associated gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283902 ; - skos:exactMatch HGNC_symbol:HCCAT5 ; + skos:exactMatch UMLS:C3810126, + HGNC:48612, + HGNC_symbol:HCCAT5 ; biolink:category biolink:Gene . OMIM:615614 a owl:Class ; @@ -336630,13 +350708,14 @@ OMIM:615614 a owl:Class ; PMID:21113133, PMID:22895565, PMID:27338793 ; - oboInOwl:hasDbXref UMLS:C1427566 ; oboInOwl:hasExactSynonym "MMS22L", "chromosome 6 open reading frame 167", "mms22-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253714 ; - skos:exactMatch HGNC_symbol:MMS22L ; + skos:exactMatch UMLS:C1427566, + HGNC:21475, + HGNC_symbol:MMS22L ; biolink:category biolink:Gene . OMIM:615618 a owl:Class ; @@ -336651,7 +350730,6 @@ OMIM:615618 a owl:Class ; PMID:27807076 ; RO:0002525 CHR:9606chr3q13.33 ; RO:0003303 OMIM:615696 ; - oboInOwl:hasDbXref UMLS:C1824120 ; oboInOwl:hasExactSynonym "POGLUT1", "cap10-like protein, 46-kd", "chromosome 3 open reading frame 9", @@ -336660,7 +350738,9 @@ OMIM:615618 a owl:Class ; "rumi, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56983 ; - skos:exactMatch HGNC_symbol:POGLUT1 ; + skos:exactMatch UMLS:C1824120, + HGNC:22954, + HGNC_symbol:POGLUT1 ; biolink:category biolink:Gene . OMIM:615619 a owl:Class ; @@ -336668,9 +350748,9 @@ OMIM:615619 a owl:Class ; IAO:0000142 PMID:24185509, PMID:24185513, PMID:30209397 ; - oboInOwl:hasDbXref UMLS:C3810156 ; oboInOwl:hasExactSynonym "chlc, susceptibility to", - "cholangiocarcinoma, susceptibility to" . + "cholangiocarcinoma, susceptibility to" ; + skos:exactMatch UMLS:C3810156 . OMIM:615620 a owl:Class ; rdfs:label "KPTN" ; @@ -336683,19 +350763,19 @@ OMIM:615620 a owl:Class ; PMID:29123071 ; RO:0002525 CHR:9606chr19q13.32 ; RO:0003303 OMIM:615637 ; - oboInOwl:hasDbXref UMLS:C1416708 ; oboInOwl:hasExactSynonym "KPTN", "actin-associated protein 2e4", "kaptin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11133 ; - skos:exactMatch HGNC_symbol:KPTN ; + skos:exactMatch UMLS:C1416708, + HGNC:6404, + HGNC_symbol:KPTN ; biolink:category biolink:Gene . OMIM:615622 a owl:Class ; rdfs:label "THRIL" ; IAO:0000142 PMID:24371310 ; - oboInOwl:hasDbXref UMLS:C3810159 ; oboInOwl:hasExactSynonym "THRIL", "bri3bp antisense RNA 1", "lincrna 1992", @@ -336705,7 +350785,9 @@ OMIM:615622 a owl:Class ; "tnf- and hnrnpl-related immunoregulatory long noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:102659353 ; - skos:exactMatch HGNC_symbol:THRIL ; + skos:exactMatch UMLS:C3810159, + HGNC:49503, + HGNC_symbol:THRIL ; biolink:category biolink:Gene . OMIM:615623 a owl:Class ; @@ -336715,7 +350797,6 @@ OMIM:615623 a owl:Class ; PMID:29718187 ; RO:0002525 CHR:9606chr1p32.3 ; RO:0003303 OMIM:618387 ; - oboInOwl:hasDbXref UMLS:C1823779 ; oboInOwl:hasExactSynonym "COA7", "chromosome 1 open reading frame 163", "cytochrome c oxidase assembly factor 7", @@ -336723,18 +350804,21 @@ OMIM:615623 a owl:Class ; "sel1 repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65260 ; - skos:exactMatch HGNC_symbol:COA7 ; + skos:exactMatch UMLS:C1823779, + HGNC:25716, + HGNC_symbol:COA7 ; biolink:category biolink:Gene . OMIM:615624 a owl:Class ; rdfs:label "CRNDE" ; IAO:0000142 PMID:22393467 ; - oboInOwl:hasDbXref UMLS:C2829187 ; oboInOwl:hasExactSynonym "CRNDE", "colorectal neoplasia differentially expressed gene, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643911 ; - skos:exactMatch HGNC_symbol:CRNDE ; + skos:exactMatch UMLS:C2829187, + HGNC:37078, + HGNC_symbol:CRNDE ; biolink:category biolink:Gene . OMIM:615626 a owl:Class ; @@ -336744,13 +350828,14 @@ OMIM:615626 a owl:Class ; PMID:9220189 ; RO:0002525 CHR:9606chr15q14 ; RO:0003303 OMIM:615631 ; - oboInOwl:hasDbXref UMLS:C1824405 ; oboInOwl:hasExactSynonym "CDIN1", "cdan1-interacting nuclease 1", "chromosome 15 open reading frame 41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84529 ; - skos:exactMatch HGNC_symbol:CDIN1 ; + skos:exactMatch UMLS:C1824405, + HGNC:26929, + HGNC_symbol:CDIN1 ; biolink:category biolink:Gene . OMIM:615627 a owl:Class ; @@ -336758,30 +350843,31 @@ OMIM:615627 a owl:Class ; IAO:0000142 PMID:11860200, PMID:17765869, PMID:24371310 ; - oboInOwl:hasDbXref UMLS:C1422512 ; oboInOwl:hasExactSynonym "BRI3BP", "bri3-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140707 ; - skos:exactMatch HGNC_symbol:BRI3BP ; + skos:exactMatch UMLS:C1422512, + HGNC:14251, + HGNC_symbol:BRI3BP ; biolink:category biolink:Gene . OMIM:615628 a owl:Class ; rdfs:label "BRI3" ; IAO:0000142 PMID:14592447 ; - oboInOwl:hasDbXref UMLS:C1412826 ; oboInOwl:hasExactSynonym "BRI3", "brain protein i3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25798 ; - skos:exactMatch HGNC_symbol:BRI3 ; + skos:exactMatch UMLS:C1412826, + HGNC:1109, + HGNC_symbol:BRI3 ; biolink:category biolink:Gene . OMIM:615634 a owl:Class ; rdfs:label "CHCHD6" ; IAO:0000142 PMID:17624330, PMID:22228767 ; - oboInOwl:hasDbXref UMLS:C1428678 ; oboInOwl:hasExactSynonym "CHCHD6", "coiled-coil-helix cristae morphology protein 1", "coiled-coil-helix-coiled-coil-helix domain-containing protein 6", @@ -336789,19 +350875,22 @@ OMIM:615634 a owl:Class ; "mitochondrial contact site and cristae organizing system, 25-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84303 ; - skos:exactMatch HGNC_symbol:CHCHD6 ; + skos:exactMatch UMLS:C1428678, + HGNC:28184, + HGNC_symbol:CHCHD6 ; biolink:category biolink:Gene . OMIM:615635 a owl:Class ; rdfs:label "ZFR" ; IAO:0000142 PMID:11574164, PMID:24482476 ; - oboInOwl:hasDbXref UMLS:C1424868 ; oboInOwl:hasExactSynonym "ZFR", "zinc finger rna-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51663 ; - skos:exactMatch HGNC_symbol:ZFR ; + skos:exactMatch UMLS:C1424868, + HGNC:17277, + HGNC_symbol:ZFR ; biolink:category biolink:Gene . OMIM:615638 a owl:Class ; @@ -336812,122 +350901,131 @@ OMIM:615638 a owl:Class ; PMID:8590280 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:617983 ; - oboInOwl:hasDbXref UMLS:C1826380 ; oboInOwl:hasExactSynonym "NCAPD2", "chromosome condensation-related smc-associated protein 1", "kiaa0159", "non-smc condensin 1 complex subunit d2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9918 ; - skos:exactMatch HGNC_symbol:NCAPD2 ; + skos:exactMatch UMLS:C1826380, + HGNC:24305, + HGNC_symbol:NCAPD2 ; biolink:category biolink:Gene . OMIM:615639 a owl:Class ; rdfs:label "SCARNA10" ; IAO:0000142 PMID:11157760, PMID:12032087 ; - oboInOwl:hasDbXref UMLS:C1822634 ; oboInOwl:hasExactSynonym "SCARNA10", "small cajal body-specific RNA 10", "snorna, u85" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:692148 ; - skos:exactMatch HGNC_symbol:SCARNA10 ; + skos:exactMatch UMLS:C1822634, + HGNC:32567, + HGNC_symbol:SCARNA10 ; biolink:category biolink:Gene . OMIM:615640 a owl:Class ; rdfs:label "SCARNA5" ; IAO:0000142 PMID:12032087, PMID:15620219 ; - oboInOwl:hasDbXref UMLS:C1822629 ; oboInOwl:hasExactSynonym "SCARNA5", "small cajal body-specific RNA 5", "snorna, u87" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677775 ; - skos:exactMatch HGNC_symbol:SCARNA5 ; + skos:exactMatch UMLS:C1822629, + HGNC:32561, + HGNC_symbol:SCARNA5 ; biolink:category biolink:Gene . OMIM:615641 a owl:Class ; rdfs:label "SCARNA6" ; IAO:0000142 PMID:12032087, PMID:15620219 ; - oboInOwl:hasDbXref UMLS:C1822630 ; oboInOwl:hasExactSynonym "SCARNA6", "small cajal body-specific RNA 6", "snorna, u88" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677772 ; - skos:exactMatch HGNC_symbol:SCARNA6 ; + skos:exactMatch UMLS:C1822630, + HGNC:32562, + HGNC_symbol:SCARNA6 ; biolink:category biolink:Gene . OMIM:615642 a owl:Class ; rdfs:label "SCARNA12" ; IAO:0000142 PMID:12032087 ; - oboInOwl:hasDbXref UMLS:C1822636 ; oboInOwl:hasExactSynonym "SCARNA12", "small cajal body-specific RNA 12", "snorna, u89" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677777 ; - skos:exactMatch HGNC_symbol:SCARNA12 ; + skos:exactMatch UMLS:C1822636, + HGNC:32569, + HGNC_symbol:SCARNA12 ; biolink:category biolink:Gene . OMIM:615643 a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 6" ; IAO:0000142 PMID:24360804, PMID:28489334 ; - oboInOwl:hasDbXref UMLS:C3810230 ; oboInOwl:hasExactSynonym "NBIA6", "neurodegeneration with brain iron accumulation 6" ; rdfs:subClassOf OMIMPS:234200 ; + skos:exactMatch UMLS:C3810230 ; biolink:category biolink:Disease . OMIM:615644 a owl:Class ; rdfs:label "SCARNA7" ; IAO:0000142 PMID:12032087 ; - oboInOwl:hasDbXref UMLS:C1822631 ; oboInOwl:hasExactSynonym "SCARNA7", "small cajal body-specific RNA 7", "snorna, u90" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677767 ; - skos:exactMatch HGNC_symbol:SCARNA7 ; + skos:exactMatch UMLS:C1822631, + HGNC:32563, + HGNC_symbol:SCARNA7 ; biolink:category biolink:Gene . OMIM:615645 a owl:Class ; rdfs:label "SCARNA17" ; IAO:0000142 PMID:12032087 ; - oboInOwl:hasDbXref UMLS:C1822641 ; oboInOwl:hasExactSynonym "SCARNA17", "small cajal body-specific RNA 17", "snorna, u91" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677769 ; - skos:exactMatch HGNC_symbol:SCARNA17 ; + skos:exactMatch UMLS:C1822641, + HGNC:32574, + HGNC_symbol:SCARNA17 ; biolink:category biolink:Gene . OMIM:615646 a owl:Class ; rdfs:label "SCARNA8" ; IAO:0000142 PMID:12032087 ; - oboInOwl:hasDbXref UMLS:C1822632 ; oboInOwl:hasExactSynonym "SCARNA8", "small cajal body-specific RNA 8", "snorna, u92" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677776 ; - skos:exactMatch HGNC_symbol:SCARNA8 ; + skos:exactMatch UMLS:C1822632, + HGNC:32564, + HGNC_symbol:SCARNA8 ; biolink:category biolink:Gene . OMIM:615647 a owl:Class ; rdfs:label "TEX19" ; IAO:0000142 PMID:18096721 ; - oboInOwl:hasDbXref UMLS:C2828861 ; oboInOwl:hasExactSynonym "TEX19", "testis-expressed gene 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400629 ; - skos:exactMatch HGNC_symbol:TEX19 ; + skos:exactMatch UMLS:C2828861, + HGNC:33802, + HGNC_symbol:TEX19 ; biolink:category biolink:Gene . OMIM:615648 a owl:Class ; @@ -336937,7 +351035,6 @@ OMIM:615648 a owl:Class ; PMID:22863753, PMID:24560620, PMID:27951586 ; - oboInOwl:hasDbXref UMLS:C1826432 ; oboInOwl:hasExactSynonym "NLRC3", "caterpiller 16.2", "clr16.2", @@ -336946,19 +351043,22 @@ OMIM:615648 a owl:Class ; "nlr family, caspase recruitment domain-containing 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197358 ; - skos:exactMatch HGNC_symbol:NLRC3 ; + skos:exactMatch UMLS:C1826432, + HGNC:29889, + HGNC_symbol:NLRC3 ; biolink:category biolink:Gene . OMIM:615650 a owl:Class ; rdfs:label "RGS22" ; IAO:0000142 PMID:18703424, PMID:21533872 ; - oboInOwl:hasDbXref UMLS:C1538837 ; oboInOwl:hasExactSynonym "RGS22", "regulator of g protein signaling 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26166 ; - skos:exactMatch HGNC_symbol:RGS22 ; + skos:exactMatch UMLS:C1538837, + HGNC:24499, + HGNC_symbol:RGS22 ; biolink:category biolink:Gene . OMIM:615651 a owl:Class ; @@ -336966,9 +351066,9 @@ OMIM:615651 a owl:Class ; IAO:0000142 PMID:11250895, PMID:17567819, PMID:23707145 ; - oboInOwl:hasDbXref UMLS:C3810242 ; oboInOwl:hasExactSynonym "LKPAT", "leukoencephalopathy with ataxia" ; + skos:exactMatch UMLS:C3810242 ; biolink:category biolink:Disease . OMIM:615652 a owl:Class ; @@ -336977,38 +351077,41 @@ OMIM:615652 a owl:Class ; PMID:17045243, PMID:19170545, PMID:24072708 ; - oboInOwl:hasDbXref UMLS:C1427237 ; oboInOwl:hasExactSynonym "ACOT13", "acyl-coa thioesterase 13", "thioesterase superfamily member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55856 ; - skos:exactMatch HGNC_symbol:ACOT13 ; + skos:exactMatch UMLS:C1427237, + HGNC:20999, + HGNC_symbol:ACOT13 ; biolink:category biolink:Gene . OMIM:615653 a owl:Class ; rdfs:label "THEM5" ; IAO:0000142 PMID:22586271 ; - oboInOwl:hasDbXref UMLS:C1823270 ; oboInOwl:hasExactSynonym "THEM5", "acyl-coa thioesterase 15", "thioesterase superfamily member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284486 ; - skos:exactMatch HGNC_symbol:THEM5 ; + skos:exactMatch UMLS:C1823270, + HGNC:26755, + HGNC_symbol:THEM5 ; biolink:category biolink:Gene . OMIM:615655 a owl:Class ; rdfs:label "ZRANB3" ; IAO:0000142 PMID:22759634, PMID:26884333 ; - oboInOwl:hasDbXref UMLS:C1538254 ; oboInOwl:hasExactSynonym "ZRANB3", "zinc finger ran-binding domain-containing protein 3", "zinc finger ranbp2-type domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84083 ; - skos:exactMatch HGNC_symbol:ZRANB3 ; + skos:exactMatch UMLS:C1538254, + HGNC:25249, + HGNC_symbol:ZRANB3 ; biolink:category biolink:Gene . OMIM:615656 a owl:Class ; @@ -337020,8 +351123,8 @@ OMIM:615656 a owl:Class ; PMID:21359847, PMID:24352232 ; RO:0002525 CHR:9606chr15q11.2 ; - oboInOwl:hasDbXref UMLS:C3180937 ; oboInOwl:hasExactSynonym "chromosome 15q11.2 deletion syndrome" ; + skos:exactMatch UMLS:C3180937 ; biolink:category biolink:Disease . OMIM:615657 a owl:Class ; @@ -337030,7 +351133,6 @@ OMIM:615657 a owl:Class ; PMID:22493297, PMID:24227773, PMID:24352241 ; - oboInOwl:hasDbXref UMLS:C1537796 ; oboInOwl:hasExactSynonym "MIR142", "micro RNA 142", "micro RNA 142-3p", @@ -337038,42 +351140,46 @@ OMIM:615657 a owl:Class ; "mirna142" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406934 ; - skos:exactMatch HGNC_symbol:MIR142 ; + skos:exactMatch UMLS:C1537796, + HGNC:31529, + HGNC_symbol:MIR142 ; biolink:category biolink:Gene . OMIM:615658 a owl:Class ; rdfs:label "spastic paraplegia 57, autosomal recessive" ; IAO:0000142 PMID:23479643 ; - oboInOwl:hasDbXref UMLS:C3714897 ; oboInOwl:hasExactSynonym "SPG57", "spastic paraplegia 57, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3714897 ; biolink:category biolink:Disease . OMIM:615659 a owl:Class ; rdfs:label "TMEM131" ; IAO:0000142 PMID:10996388, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1823390 ; oboInOwl:hasExactSynonym "TMEM131", "cc28", "kiaa0257", "transmembrane protein 131" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23505 ; - skos:exactMatch HGNC_symbol:TMEM131 ; + skos:exactMatch UMLS:C1823390, + HGNC:30366, + HGNC_symbol:TMEM131 ; biolink:category biolink:Gene . OMIM:615660 a owl:Class ; rdfs:label "RPL10A" ; IAO:0000142 PMID:7609734 ; - oboInOwl:hasDbXref UMLS:C1419626 ; oboInOwl:hasExactSynonym "RPL10A", "csa19", "ribosomal protein l10a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4736 ; - skos:exactMatch HGNC_symbol:RPL10A ; + skos:exactMatch UMLS:C1419626, + HGNC:10299, + HGNC_symbol:RPL10A ; biolink:category biolink:Gene . OMIM:615661 a owl:Class ; @@ -337081,25 +351187,27 @@ OMIM:615661 a owl:Class ; IAO:0000142 PMID:16311922, PMID:17393540, PMID:18486760 ; - oboInOwl:hasDbXref UMLS:C1826556 ; oboInOwl:hasExactSynonym "PDCD2L", "mgc13096", "pdcd2-like protein", "programmed cell death 2-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84306 ; - skos:exactMatch HGNC_symbol:PDCD2L ; + skos:exactMatch UMLS:C1826556, + HGNC:28194, + HGNC_symbol:PDCD2L ; biolink:category biolink:Gene . OMIM:615662 a owl:Class ; rdfs:label "SERPINB12" ; IAO:0000142 PMID:11604408 ; - oboInOwl:hasDbXref UMLS:C1422493 ; oboInOwl:hasExactSynonym "SERPINB12", "serpin peptidase inhibitor, clade B (ovalbumin), member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89777 ; - skos:exactMatch HGNC_symbol:SERPINB12 ; + skos:exactMatch UMLS:C1422493, + HGNC:14220, + HGNC_symbol:SERPINB12 ; biolink:category biolink:Gene . OMIM:615664 a owl:Class ; @@ -337108,25 +351216,27 @@ OMIM:615664 a owl:Class ; PMID:23541577, PMID:23650607, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C3469978 ; oboInOwl:hasExactSynonym "TESPA1", "kiaa0748", "thymocyte-expressed positive selection-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9840 ; - skos:exactMatch HGNC_symbol:TESPA1 ; + skos:exactMatch UMLS:C3469978, + HGNC:29109, + HGNC_symbol:TESPA1 ; biolink:category biolink:Gene . OMIM:615666 a owl:Class ; rdfs:label "KIAA1456" ; IAO:0000142 PMID:10819331 ; - oboInOwl:hasDbXref UMLS:C1824287 ; oboInOwl:hasExactSynonym "KIAA1456", "kiaa1456 gene", "trna methyltransferase 9-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57604 ; - skos:exactMatch HGNC_symbol:TRMT9B ; + skos:exactMatch UMLS:C1824287, + HGNC:26725, + HGNC_symbol:TRMT9B ; biolink:category biolink:Gene . OMIM:615667 a owl:Class ; @@ -337135,15 +351245,16 @@ OMIM:615667 a owl:Class ; PMID:27185855 ; RO:0002525 CHR:9606chr9q22.32 ; RO:0003303 OMIM:615715 ; - oboInOwl:hasDbXref UMLS:C3470154, - UMLS:C4539492 ; oboInOwl:hasExactSynonym "ERCC6L2", "ercc6-like 2", "helicase mutated 1n bone marrow failure", "rad26-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375748 ; - skos:exactMatch HGNC_symbol:ERCC6L2 ; + skos:exactMatch UMLS:C3470154, + UMLS:C4539492, + HGNC:26922, + HGNC_symbol:ERCC6L2 ; biolink:category biolink:Gene . OMIM:615668 a owl:Class ; @@ -337151,8 +351262,8 @@ OMIM:615668 a owl:Class ; IAO:0000142 PMID:21594994, PMID:24203977 ; RO:0002525 CHR:9606chr5q12 ; - oboInOwl:hasDbXref UMLS:C3810282 ; oboInOwl:hasExactSynonym "chromosome 5q12 deletion syndrome" ; + skos:exactMatch UMLS:C3810282 ; biolink:category biolink:Disease . OMIM:615669 a owl:Class ; @@ -337160,39 +351271,42 @@ OMIM:615669 a owl:Class ; IAO:0000142 PMID:19164284, PMID:21792931, PMID:2963822 ; - oboInOwl:hasDbXref UMLS:C1539357 ; oboInOwl:hasExactSynonym "EMB", "embigin", "gp70" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133418 ; - skos:exactMatch HGNC_symbol:EMB ; + skos:exactMatch UMLS:C1539357, + HGNC:30465, + HGNC_symbol:EMB ; biolink:category biolink:Gene . OMIM:615671 a owl:Class ; rdfs:label "SETD3" ; IAO:0000142 PMID:21832073, PMID:30626964 ; - oboInOwl:hasDbXref UMLS:C1822687 ; oboInOwl:hasExactSynonym "SETD3", "set domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84193 ; - skos:exactMatch HGNC_symbol:SETD3 ; + skos:exactMatch UMLS:C1822687, + HGNC:20493, + HGNC_symbol:SETD3 ; biolink:category biolink:Gene . OMIM:615672 a owl:Class ; rdfs:label "MIR497" ; IAO:0000142 PMID:16381832, PMID:21878650 ; - oboInOwl:hasDbXref UMLS:C1826051 ; oboInOwl:hasExactSynonym "MIR497", "micro RNA 497", "mirn497", "mirna497" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574456 ; - skos:exactMatch HGNC_symbol:MIR497 ; + skos:exactMatch UMLS:C1826051, + HGNC:32088, + HGNC_symbol:MIR497 ; biolink:category biolink:Gene . OMIM:615675 a owl:Class ; @@ -337201,66 +351315,71 @@ OMIM:615675 a owl:Class ; PMID:21175428, PMID:22373864, PMID:22628193 ; - oboInOwl:hasDbXref UMLS:C1537865 ; oboInOwl:hasExactSynonym "MIR301A", "micro RNA 301a", "mir301", "mirna301a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407027 ; - skos:exactMatch HGNC_symbol:MIR301A ; + skos:exactMatch UMLS:C1537865, + HGNC:31622, + HGNC_symbol:MIR301A ; biolink:category biolink:Gene . OMIM:615676 a owl:Class ; rdfs:label "TDRG1" ; IAO:0000142 PMID:22123530 ; - oboInOwl:hasDbXref UMLS:C3469973 ; oboInOwl:hasExactSynonym "TDRG1", "lincrna 532", "long intergenic noncoding RNA 532", "testis development-related gene 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:732253 ; - skos:exactMatch HGNC_symbol:TDRG1 ; + skos:exactMatch UMLS:C3469973, + HGNC:43642, + HGNC_symbol:TDRG1 ; biolink:category biolink:Gene . OMIM:615677 a owl:Class ; rdfs:label "SERPINA9" ; IAO:0000142 PMID:12819018 ; - oboInOwl:hasDbXref UMLS:C1423895 ; oboInOwl:hasExactSynonym "SERPINA9", "centerin", "germinal center b-cell-expressed transcript 1", "serpin peptidase inhibitor, clade a, member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:327657 ; - skos:exactMatch HGNC_symbol:SERPINA9 ; + skos:exactMatch UMLS:C1423895, + HGNC:15995, + HGNC_symbol:SERPINA9 ; biolink:category biolink:Gene . OMIM:615678 a owl:Class ; rdfs:label "SH3BGRL2" ; IAO:0000142 PMID:12095696 ; - oboInOwl:hasDbXref UMLS:C1423579 ; oboInOwl:hasExactSynonym "SH3BGRL2", "sh3 domain-binding glutamic acid-rich protein-like protein 2", "sh3bgr-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83699 ; - skos:exactMatch HGNC_symbol:SH3BGRL2 ; + skos:exactMatch UMLS:C1423579, + HGNC:15567, + HGNC_symbol:SH3BGRL2 ; biolink:category biolink:Gene . OMIM:615679 a owl:Class ; rdfs:label "SH3BGRL3" ; IAO:0000142 PMID:10554026, PMID:11444877 ; - oboInOwl:hasDbXref UMLS:C1423580 ; oboInOwl:hasExactSynonym "SH3BGRL3", "sh3 domain-binding glutamic acid-rich protein-like protein 3", "sh3bgr-like protein 3", "tnf inhibitory protein b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83442 ; - skos:exactMatch HGNC_symbol:SH3BGRL3 ; + skos:exactMatch UMLS:C1423580, + HGNC:15568, + HGNC_symbol:SH3BGRL3 ; biolink:category biolink:Gene . OMIM:615680 a owl:Class ; @@ -337268,7 +351387,6 @@ OMIM:615680 a owl:Class ; IAO:0000142 PMID:11432859, PMID:11536016, PMID:16920334 ; - oboInOwl:hasDbXref UMLS:C2681322 ; oboInOwl:hasExactSynonym "CARD16", "card-only protein", "caspase recruitment domain-containing protein 16", @@ -337278,18 +351396,21 @@ OMIM:615680 a owl:Class ; "pseudo-interleukin 1-beta-converting enzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114769 ; - skos:exactMatch HGNC_symbol:CARD16 ; + skos:exactMatch UMLS:C2681322, + HGNC:33701, + HGNC_symbol:CARD16 ; biolink:category biolink:Gene . OMIM:615682 a owl:Class ; rdfs:label "SERPINB11" ; IAO:0000142 PMID:17562709 ; - oboInOwl:hasDbXref UMLS:C1422494 ; oboInOwl:hasExactSynonym "SERPINB11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89778 ; - skos:exactMatch HGNC_symbol:SERPINB11 ; + skos:exactMatch UMLS:C1422494, + HGNC:14221, + HGNC_symbol:SERPINB11 ; biolink:category biolink:Gene . OMIM:615684 a owl:Class ; @@ -337299,7 +351420,6 @@ OMIM:615684 a owl:Class ; PMID:24597873 ; RO:0002525 CHR:9606chr1p22.2 ; RO:0003303 OMIM:615724 ; - oboInOwl:hasDbXref UMLS:C1825465 ; oboInOwl:hasExactSynonym "HFM1", "helicase family member 1", "helicase for meiosis 1", @@ -337307,28 +351427,31 @@ OMIM:615684 a owl:Class ; "mer3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:164045 ; - skos:exactMatch HGNC_symbol:HFM1 ; + skos:exactMatch UMLS:C1825465, + HGNC:20193, + HGNC_symbol:HFM1 ; biolink:category biolink:Gene . OMIM:615686 a owl:Class ; rdfs:label "spastic paraplegia 63, autosomal recessive" ; IAO:0000142 PMID:24482476 ; - oboInOwl:hasDbXref UMLS:C3810295 ; oboInOwl:hasExactSynonym "SPG63", "spastic paraplegia 63, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3810295 ; biolink:category biolink:Disease . OMIM:615687 a owl:Class ; rdfs:label "BECN2" ; IAO:0000142 PMID:23954414 ; - oboInOwl:hasDbXref UMLS:C3810296 ; oboInOwl:hasExactSynonym "BECN2", "beclin 1-like protein 1", "beclin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441925 ; - skos:exactMatch HGNC_symbol:BECN2 ; + skos:exactMatch UMLS:C3810296, + HGNC:38606, + HGNC_symbol:BECN2 ; biolink:category biolink:Gene . OMIM:615689 a owl:Class ; @@ -337336,7 +351459,6 @@ OMIM:615689 a owl:Class ; IAO:0000142 PMID:10574461, PMID:12629050, PMID:12843293 ; - oboInOwl:hasDbXref UMLS:C1823184 ; oboInOwl:hasExactSynonym "AMIGO1", "adhesion molecule with ig-like domain 1", "alivin 2", @@ -337344,21 +351466,24 @@ OMIM:615689 a owl:Class ; "kiaa1163" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57463 ; - skos:exactMatch HGNC_symbol:AMIGO1 ; + skos:exactMatch UMLS:C1823184, + HGNC:20824, + HGNC_symbol:AMIGO1 ; biolink:category biolink:Gene . OMIM:615690 a owl:Class ; rdfs:label "AMIGO2" ; IAO:0000142 PMID:12629050, PMID:12843293 ; - oboInOwl:hasDbXref UMLS:C1823185 ; oboInOwl:hasExactSynonym "AMIGO2", "adhesion molecule with ig-like domain 2", "alivin 1", "amphoterin-induced gene and open reading frame 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347902 ; - skos:exactMatch HGNC_symbol:AMIGO2 ; + skos:exactMatch UMLS:C1823185, + HGNC:24073, + HGNC_symbol:AMIGO2 ; biolink:category biolink:Gene . OMIM:615691 a owl:Class ; @@ -337366,51 +351491,55 @@ OMIM:615691 a owl:Class ; IAO:0000142 PMID:11347906, PMID:12629050, PMID:12843293 ; - oboInOwl:hasDbXref UMLS:C1823186 ; oboInOwl:hasExactSynonym "AMIGO3", "adhesion molecule with ig-like domain 3", "alivin 3", "amphoterin-induced gene and open reading frame 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:386724 ; - skos:exactMatch HGNC_symbol:AMIGO3 ; + skos:exactMatch UMLS:C1823186, + HGNC:24075, + HGNC_symbol:AMIGO3 ; biolink:category biolink:Gene . OMIM:615692 a owl:Class ; rdfs:label "CHID1" ; IAO:0000142 PMID:16357325, PMID:20724479 ; - oboInOwl:hasDbXref UMLS:C1824736 ; oboInOwl:hasExactSynonym "CHID1", "chitinase domain-containing protein 1", "stabilin 1-interacting chitinase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:66005 ; - skos:exactMatch HGNC_symbol:CHID1 ; + skos:exactMatch UMLS:C1824736, + HGNC:28474, + HGNC_symbol:CHID1 ; biolink:category biolink:Gene . OMIM:615693 a owl:Class ; rdfs:label "COLCA1" ; IAO:0000142 PMID:24154973 ; - oboInOwl:hasDbXref UMLS:C2681272 ; oboInOwl:hasExactSynonym "COLCA1", "colca1 gene", "colorectal cancer-associated gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399948 ; - skos:exactMatch HGNC_symbol:COLCA1 ; + skos:exactMatch UMLS:C2681272, + HGNC:33789, + HGNC_symbol:COLCA1 ; biolink:category biolink:Gene . OMIM:615694 a owl:Class ; rdfs:label "COLCA2" ; IAO:0000142 PMID:24154973 ; - oboInOwl:hasDbXref UMLS:C3810312 ; oboInOwl:hasExactSynonym "COLCA2", "colca2 gene", "colorectal cancer-associated gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120376 ; - skos:exactMatch HGNC_symbol:COLCA2 ; + skos:exactMatch UMLS:C3810312, + HGNC:26978, + HGNC_symbol:COLCA2 ; biolink:category biolink:Gene . OMIM:615695 a owl:Class ; @@ -337418,12 +351547,13 @@ OMIM:615695 a owl:Class ; IAO:0000142 PMID:12832472, PMID:15713661, PMID:15713662 ; - oboInOwl:hasDbXref UMLS:C1825464 ; oboInOwl:hasExactSynonym "HEXIM2", "hexamethylene bis acetamide-inducible protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124790 ; - skos:exactMatch HGNC_symbol:HEXIM2 ; + skos:exactMatch UMLS:C1825464, + HGNC:28591, + HGNC_symbol:HEXIM2 ; biolink:category biolink:Gene . OMIM:615698 a owl:Class ; @@ -337440,22 +351570,20 @@ OMIM:615698 a owl:Class ; PMID:9140189 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:617770 ; - oboInOwl:hasDbXref UMLS:C1424784 ; oboInOwl:hasExactSynonym "PLD3", "huk4", "phospholipase d family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23646 ; - skos:exactMatch HGNC_symbol:PLD3 ; + skos:exactMatch UMLS:C1424784, + HGNC:17158, + HGNC_symbol:PLD3 ; biolink:category biolink:Gene . OMIM:615699 a owl:Class ; rdfs:label "ZFTA" ; IAO:0000142 PMID:20607705, PMID:24553141 ; - oboInOwl:hasDbXref UMLS:C2828858, - UMLS:C3810322, - UMLS:C3810323 ; oboInOwl:hasExactSynonym "ZFTA", "c11orf95/mkl2 fusion gene", "c11orf95/rela fusion gene", @@ -337463,13 +351591,16 @@ OMIM:615699 a owl:Class ; "zinc finger translocation-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65998 ; - skos:exactMatch HGNC_symbol:ZFTA ; + skos:exactMatch UMLS:C2828858, + UMLS:C3810322, + UMLS:C3810323, + HGNC:28449, + HGNC_symbol:ZFTA ; biolink:category biolink:Gene . OMIM:615700 a owl:Class ; rdfs:label "PYDC1" ; IAO:0000142 PMID:12656673 ; - oboInOwl:hasDbXref UMLS:C1538757 ; oboInOwl:hasExactSynonym "PYDC1", "asc2", "paad domain-only protein 1", @@ -337478,32 +351609,36 @@ OMIM:615700 a owl:Class ; "pyrin domain-only protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:260434 ; - skos:exactMatch HGNC_symbol:PYDC1 ; + skos:exactMatch UMLS:C1538757, + HGNC:30261, + HGNC_symbol:PYDC1 ; biolink:category biolink:Gene . OMIM:615701 a owl:Class ; rdfs:label "PYDC2" ; IAO:0000142 PMID:17178784, PMID:17339483 ; - oboInOwl:hasDbXref UMLS:C2678589 ; oboInOwl:hasExactSynonym "PYDC2", "pyrin domain-containing protein 2", "pyrin domain-only protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152138 ; - skos:exactMatch HGNC_symbol:PYDC2 ; + skos:exactMatch UMLS:C2678589, + HGNC:33512, + HGNC_symbol:PYDC2 ; biolink:category biolink:Gene . OMIM:615702 a owl:Class ; rdfs:label "OR5AN1" ; IAO:0000142 PMID:24361078 ; - oboInOwl:hasDbXref UMLS:C1423344 ; oboInOwl:hasExactSynonym "OR5AN1", "olfactory receptor, family 5, subfamily an, member 1", "or11-244" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390195 ; - skos:exactMatch HGNC_symbol:OR5AN1 ; + skos:exactMatch UMLS:C1423344, + HGNC:15255, + HGNC_symbol:OR5AN1 ; biolink:category biolink:Gene . OMIM:615706 a owl:Class ; @@ -337512,10 +351647,10 @@ OMIM:615706 a owl:Class ; PMID:12244558, PMID:23315542, PMID:24268655 ; - oboInOwl:hasDbXref UMLS:C3810332 ; oboInOwl:hasExactSynonym "ARCND3", "auriculocondylar syndrome 3" ; rdfs:subClassOf OMIMPS:602483 ; + skos:exactMatch UMLS:C3810332 ; biolink:category biolink:Disease . OMIM:615708 a owl:Class ; @@ -337523,21 +351658,22 @@ OMIM:615708 a owl:Class ; IAO:0000142 PMID:18656483, PMID:24324267, PMID:28912134 ; - oboInOwl:hasDbXref UMLS:C1427310 ; oboInOwl:hasExactSynonym "ZNF451", "coactivator for steroid receptors", "zinc finger protein 451" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26036 ; - skos:exactMatch HGNC_symbol:ZNF451 ; + skos:exactMatch UMLS:C1427310, + HGNC:21091, + HGNC_symbol:ZNF451 ; biolink:category biolink:Gene . OMIM:615709 a owl:Class ; rdfs:label "sacral agenesis with vertebral anomalies" ; IAO:0000142 PMID:24253444 ; - oboInOwl:hasDbXref UMLS:C3810343 ; oboInOwl:hasExactSynonym "SAVA", "sacral agenesis with vertebral anomalies" ; + skos:exactMatch UMLS:C3810343 ; biolink:category biolink:Disease . OMIM:615711 a owl:Class ; @@ -337548,10 +351684,10 @@ OMIM:615711 a owl:Class ; PMID:25832411, PMID:25832412, PMID:26411346 ; - oboInOwl:hasDbXref UMLS:C3810349 ; oboInOwl:hasExactSynonym "AD19", "alzheimer disease 19", - "alzheimer disease 19, late-onset" . + "alzheimer disease 19, late-onset" ; + skos:exactMatch UMLS:C3810349 . OMIM:615712 a owl:Class ; rdfs:label "OTULIN" ; @@ -337562,14 +351698,15 @@ OMIM:615712 a owl:Class ; PMID:29950720 ; RO:0002525 CHR:9606chr5p15.2 ; RO:0003303 OMIM:617099 ; - oboInOwl:hasDbXref UMLS:C1825233 ; oboInOwl:hasExactSynonym "OTULIN", "family with sequence similarity 105, member B", "gumby, mouse, homolog of", "otu deubiquitinase with linear linkage specificity" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90268 ; - skos:exactMatch HGNC_symbol:OTULIN ; + skos:exactMatch UMLS:C1825233, + HGNC:25118, + HGNC_symbol:OTULIN ; biolink:category biolink:Gene . OMIM:615713 a owl:Class ; @@ -337577,44 +351714,46 @@ OMIM:615713 a owl:Class ; IAO:0000142 PMID:11003709, PMID:15095401, PMID:27058665 ; - oboInOwl:hasDbXref UMLS:C1418914 ; oboInOwl:hasExactSynonym "ZMYND8", "protein kinase c-binding protein 1", "rack7", "zinc finger mynd domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23613 ; - skos:exactMatch HGNC_symbol:ZMYND8 ; + skos:exactMatch UMLS:C1418914, + HGNC:9397, + HGNC_symbol:ZMYND8 ; biolink:category biolink:Gene . OMIM:615717 a owl:Class ; rdfs:label "BPIFB3" ; IAO:0000142 PMID:12837268 ; - oboInOwl:hasDbXref UMLS:C3469649 ; oboInOwl:hasExactSynonym "BPIFB3", "bpi fold-containing protein, family b, member 3", "rya3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:359710 ; - skos:exactMatch HGNC_symbol:BPIFB3 ; + skos:exactMatch UMLS:C3469649, + HGNC:16178, + HGNC_symbol:BPIFB3 ; biolink:category biolink:Gene . OMIM:615718 a owl:Class ; rdfs:label "BPIFB4" ; IAO:0000142 PMID:12837268 ; - oboInOwl:hasDbXref UMLS:C3469650 ; oboInOwl:hasExactSynonym "BPIFB4", "bpi fold-containing protein, family b, member 4", "ry2g5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149954 ; - skos:exactMatch HGNC_symbol:BPIFB4 ; + skos:exactMatch UMLS:C3469650, + HGNC:16179, + HGNC_symbol:BPIFB4 ; biolink:category biolink:Gene . OMIM:615719 a owl:Class ; rdfs:label "TUNAR" ; IAO:0000142 PMID:24530304 ; - oboInOwl:hasDbXref UMLS:C3541074 ; oboInOwl:hasExactSynonym "TUNAR", "lincrna tunar", "long intergenic noncoding RNA 617", @@ -337622,7 +351761,9 @@ OMIM:615719 a owl:Class ; "tcl1 upstream neuron-associated RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507043 ; - skos:exactMatch HGNC_symbol:TUNAR ; + skos:exactMatch UMLS:C3541074, + HGNC:44088, + HGNC_symbol:TUNAR ; biolink:category biolink:Gene . OMIM:615720 a owl:Class ; @@ -337633,13 +351774,14 @@ OMIM:615720 a owl:Class ; PMID:24670872 ; RO:0002525 CHR:9606chr3q26.2 ; RO:0003303 OMIM:615725 ; - oboInOwl:hasDbXref UMLS:C1822738 ; oboInOwl:hasExactSynonym "SLC7A14", "kiaa1613", "solute carrier family 7, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57709 ; - skos:exactMatch HGNC_symbol:SLC7A14 ; + skos:exactMatch UMLS:C1822738, + HGNC:29326, + HGNC_symbol:SLC7A14 ; biolink:category biolink:Gene . OMIM:615723 a owl:Class ; @@ -337647,10 +351789,10 @@ OMIM:615723 a owl:Class ; IAO:0000142 PMID:22428046, PMID:24597867, PMID:26059840 ; - oboInOwl:hasDbXref UMLS:C3810367 ; oboInOwl:hasExactSynonym "POF8", "premature ovarian failure 8" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C3810367 ; biolink:category biolink:Disease . OMIM:615727 a owl:Class ; @@ -337660,12 +351802,13 @@ OMIM:615727 a owl:Class ; PMID:12185535, PMID:17215859, PMID:18461314 ; - oboInOwl:hasDbXref UMLS:C1825710 ; oboInOwl:hasExactSynonym "KIR2DL5B", "killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:553128 ; - skos:exactMatch HGNC_symbol:KIR2DL5B ; + skos:exactMatch UMLS:C1825710, + HGNC:16346, + HGNC_symbol:KIR2DL5B ; biolink:category biolink:Gene . OMIM:615729 a owl:Class ; @@ -337673,13 +351816,14 @@ OMIM:615729 a owl:Class ; IAO:0000142 PMID:10231032, PMID:18025162, PMID:23980096 ; - oboInOwl:hasDbXref UMLS:C1822616 ; oboInOwl:hasExactSynonym "SBNO2", "kiaa0963", "strawberry notch, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22904 ; - skos:exactMatch HGNC_symbol:SBNO2 ; + skos:exactMatch UMLS:C1822616, + HGNC:29158, + HGNC_symbol:SBNO2 ; biolink:category biolink:Gene . OMIM:615730 a owl:Class ; @@ -337694,21 +351838,21 @@ OMIM:615730 a owl:Class ; PMID:9475748 ; RO:0002525 CHR:9606chr1p31.3 ; RO:0003303 OMIM:615859 ; - oboInOwl:hasDbXref UMLS:C1426078, - UMLS:C4014492 ; oboInOwl:hasExactSynonym "DOCK7", "dedicator of cytokinesis 7", "kiaa1771" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85440 ; - skos:exactMatch HGNC_symbol:DOCK7 ; + skos:exactMatch UMLS:C1426078, + UMLS:C4014492, + HGNC:19190, + HGNC_symbol:DOCK7 ; biolink:category biolink:Gene . OMIM:615732 a owl:Class ; rdfs:label "NSUN5" ; IAO:0000142 PMID:11978965, PMID:12073013 ; - oboInOwl:hasDbXref UMLS:C1538492 ; oboInOwl:hasExactSynonym "NSUN5", "nop2/sun RNA methyltransferase family, member 5", "nop2/sun domain family, member 5", @@ -337717,7 +351861,9 @@ OMIM:615732 a owl:Class ; "williams-beuren syndrome critical region 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55695 ; - skos:exactMatch HGNC_symbol:NSUN5 ; + skos:exactMatch UMLS:C1538492, + HGNC:16385, + HGNC_symbol:NSUN5 ; biolink:category biolink:Gene . OMIM:615733 a owl:Class ; @@ -337725,14 +351871,15 @@ OMIM:615733 a owl:Class ; IAO:0000142 PMID:11978965, PMID:12073013, PMID:24488492 ; - oboInOwl:hasDbXref UMLS:C1424253 ; oboInOwl:hasExactSynonym "BUD23", "metastasis-related methyltransferase 1", "rrna methyltransferase and ribosome maturation factor bud23", "williams-beuren syndrome critical region 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114049 ; - skos:exactMatch HGNC_symbol:BUD23 ; + skos:exactMatch UMLS:C1424253, + HGNC:16405, + HGNC_symbol:BUD23 ; biolink:category biolink:Gene . OMIM:615734 a owl:Class ; @@ -337740,14 +351887,15 @@ OMIM:615734 a owl:Class ; IAO:0000142 PMID:10048485, PMID:22523538, PMID:29078390 ; - oboInOwl:hasDbXref UMLS:C1538091 ; oboInOwl:hasExactSynonym "WDR47", "kiaa0893", "neuronal enriched map-interacting protein", "wd repeat-containing protein 47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22911 ; - skos:exactMatch HGNC_symbol:WDR47 ; + skos:exactMatch UMLS:C1538091, + HGNC:29141, + HGNC_symbol:WDR47 ; biolink:category biolink:Gene . OMIM:615736 a owl:Class ; @@ -337756,14 +351904,15 @@ OMIM:615736 a owl:Class ; PMID:20086248, PMID:23393131, PMID:24338479 ; - oboInOwl:hasDbXref UMLS:C2681448 ; oboInOwl:hasExactSynonym "ECSCR", "apoptosis regulator through modulating iap expression", "endothelial cell surface-expressed chemotaxis and apoptosis regulator", "endothelial cell-specific molecule 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641700 ; - skos:exactMatch HGNC_symbol:ECSCR ; + skos:exactMatch UMLS:C2681448, + HGNC:35454, + HGNC_symbol:ECSCR ; biolink:category biolink:Gene . OMIM:615737 a owl:Class ; @@ -337772,7 +351921,6 @@ OMIM:615737 a owl:Class ; PMID:24739963, PMID:27309808, PMID:27309818 ; - oboInOwl:hasDbXref UMLS:C2681534 ; oboInOwl:hasExactSynonym "IZUMO1R", "folate receptor 4", "folate receptor, delta", @@ -337782,7 +351930,9 @@ OMIM:615737 a owl:Class ; "juno" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390243 ; - skos:exactMatch HGNC_symbol:IZUMO1R ; + skos:exactMatch UMLS:C2681534, + HGNC:32565, + HGNC_symbol:IZUMO1R ; biolink:category biolink:Gene . OMIM:615738 a owl:Class ; @@ -337793,21 +351943,21 @@ OMIM:615738 a owl:Class ; PMID:31207318 ; RO:0002525 CHR:9606chr11q13.1 ; RO:0003303 OMIM:618606 ; - oboInOwl:hasDbXref UMLS:C1412871 ; oboInOwl:hasExactSynonym "VPS51", "another new gene 2", "vacuolar protein sorting 51, s. cerevisiae, homolog of", "vps51 subunit of garp complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:738 ; - skos:exactMatch HGNC_symbol:VPS51 ; + skos:exactMatch UMLS:C1412871, + HGNC:1172, + HGNC_symbol:VPS51 ; biolink:category biolink:Gene . OMIM:615739 a owl:Class ; rdfs:label "POU5F1B" ; IAO:0000142 PMID:16229821, PMID:18949397 ; - oboInOwl:hasDbXref UMLS:C1418770 ; oboInOwl:hasExactSynonym "POU5F1B", "oct4pg1", "pou class 5 homeobox 1b", @@ -337815,20 +351965,23 @@ OMIM:615739 a owl:Class ; "pou5f1p1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5462 ; - skos:exactMatch HGNC_symbol:POU5F1B ; + skos:exactMatch UMLS:C1418770, + HGNC:9223, + HGNC_symbol:POU5F1B ; biolink:category biolink:Gene . OMIM:615740 a owl:Class ; rdfs:label "TBC1D5" ; IAO:0000142 PMID:19531583, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1426057 ; oboInOwl:hasExactSynonym "TBC1D5", "kiaa0210", "tbc1 domain family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9779 ; - skos:exactMatch HGNC_symbol:TBC1D5 ; + skos:exactMatch UMLS:C1426057, + HGNC:19166, + HGNC_symbol:TBC1D5 ; biolink:category biolink:Gene . OMIM:615741 a owl:Class ; @@ -337837,27 +351990,29 @@ OMIM:615741 a owl:Class ; PMID:32132706, PMID:32132707, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1537445 ; oboInOwl:hasExactSynonym "DELE1", "dap3-binding cell death enhancer 1", "death ligand signal enhancer", "kiaa0141 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9812 ; - skos:exactMatch HGNC_symbol:DELE1 ; + skos:exactMatch UMLS:C1537445, + HGNC:28969, + HGNC_symbol:DELE1 ; biolink:category biolink:Gene . OMIM:615742 a owl:Class ; rdfs:label "RGP1" ; IAO:0000142 PMID:23091056, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C2239884 ; oboInOwl:hasExactSynonym "RGP1", "kiaa0258", "rgp1 retrograde golgi transport, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9827 ; - skos:exactMatch HGNC_symbol:RGP1 ; + skos:exactMatch UMLS:C2239884, + HGNC:21965, + HGNC_symbol:RGP1 ; biolink:category biolink:Gene . OMIM:615743 a owl:Class ; @@ -337869,26 +352024,27 @@ OMIM:615743 a owl:Class ; PMID:31515109 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:615761 ; - oboInOwl:hasDbXref UMLS:C1822689, - UMLS:C3810406 ; oboInOwl:hasExactSynonym "SETD5", "kiaa1757", "set domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55209 ; - skos:exactMatch HGNC_symbol:SETD5 ; + skos:exactMatch UMLS:C1822689, + UMLS:C3810406, + HGNC:25566, + HGNC_symbol:SETD5 ; biolink:category biolink:Gene . OMIM:615744 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 19" ; IAO:0000142 PMID:24623842, PMID:32047208 ; - oboInOwl:hasDbXref UMLS:C3810400, - ORPHA:33069 ; oboInOwl:hasExactSynonym "DEE19", "developmental and epileptic encephalopathy 19", "epileptic encephalopathy, early infantile, 19" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3810400, + ORPHA:33069 ; biolink:category biolink:Disease . OMIM:615746 a owl:Class ; @@ -337896,12 +352052,13 @@ OMIM:615746 a owl:Class ; IAO:0000142 PMID:16600381, PMID:17493635, PMID:23954399 ; - oboInOwl:hasDbXref UMLS:C1824086 ; oboInOwl:hasExactSynonym "ZXDC", "zxd family zinc finger protein c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79364 ; - skos:exactMatch HGNC_symbol:ZXDC ; + skos:exactMatch UMLS:C1824086, + HGNC:28160, + HGNC_symbol:ZXDC ; biolink:category biolink:Gene . OMIM:615747 a owl:Class ; @@ -337910,7 +352067,6 @@ OMIM:615747 a owl:Class ; PMID:19077207, PMID:2208113, PMID:2306228 ; - oboInOwl:hasDbXref UMLS:C1413310 ; oboInOwl:hasExactSynonym "CEACAM8", "carcinoembryonic antigen-related cell adhesion molecule 8", "cd66b", @@ -337918,7 +352074,9 @@ OMIM:615747 a owl:Class ; "cgm6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1088 ; - skos:exactMatch HGNC_symbol:CEACAM8 ; + skos:exactMatch UMLS:C1413310, + HGNC:1820, + HGNC_symbol:CEACAM8 ; biolink:category biolink:Gene . OMIM:615748 a owl:Class ; @@ -337927,7 +352085,6 @@ OMIM:615748 a owl:Class ; PMID:21498477 ; RO:0002525 CHR:9606chr12q23.3 ; RO:0003303 OMIM:615817 ; - oboInOwl:hasDbXref UMLS:C1537460 ; oboInOwl:hasExactSynonym "WASHC4", "kiaa1033 gene", "strumpellin and wash-interacting protein", @@ -337935,7 +352092,9 @@ OMIM:615748 a owl:Class ; "wash complex, subunit 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23325 ; - skos:exactMatch HGNC_symbol:WASHC4 ; + skos:exactMatch UMLS:C1537460, + HGNC:29174, + HGNC_symbol:WASHC4 ; biolink:category biolink:Gene . OMIM:615753 a owl:Class ; @@ -337945,52 +352104,56 @@ OMIM:615753 a owl:Class ; PMID:21289085, PMID:8335683, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1426345 ; oboInOwl:hasExactSynonym "POM121", "kiaa0618", "pom121 transmembrane nucleoporin", "pom121a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9883 ; - skos:exactMatch HGNC_symbol:POM121 ; + skos:exactMatch UMLS:C1426345, + HGNC:19702, + HGNC_symbol:POM121 ; biolink:category biolink:Gene . OMIM:615754 a owl:Class ; rdfs:label "POM121C" ; IAO:0000142 PMID:17900573 ; - oboInOwl:hasDbXref UMLS:C2239832 ; oboInOwl:hasExactSynonym "POM121C", "pom121 transmembrane nucleoporin c", "pom121-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100101267 ; - skos:exactMatch HGNC_symbol:POM121C ; + skos:exactMatch UMLS:C2239832, + HGNC:34005, + HGNC_symbol:POM121C ; biolink:category biolink:Gene . OMIM:615755 a owl:Class ; rdfs:label "FOXR1" ; IAO:0000142 PMID:15067358 ; - oboInOwl:hasDbXref UMLS:C1539528 ; oboInOwl:hasExactSynonym "FOXR1", "forkhead box n5", "forkhead box r1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283150 ; - skos:exactMatch HGNC_symbol:FOXR1 ; + skos:exactMatch UMLS:C1539528, + HGNC:29980, + HGNC_symbol:FOXR1 ; biolink:category biolink:Gene . OMIM:615756 a owl:Class ; rdfs:label "SECISBP2L" ; IAO:0000142 PMID:22530054, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C2680370 ; oboInOwl:hasExactSynonym "SECISBP2L", "kiaa0256", "secis-binding protein 2-like", "selenocysteine insertion sequence-binding protein 2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9728 ; - skos:exactMatch HGNC_symbol:SECISBP2L ; + skos:exactMatch UMLS:C2680370, + HGNC:28997, + HGNC_symbol:SECISBP2L ; biolink:category biolink:Gene . OMIM:615757 a owl:Class ; @@ -337999,14 +352162,15 @@ OMIM:615757 a owl:Class ; PMID:24680887 ; RO:0002525 CHR:9606chr20p11.23 ; RO:0003303 OMIM:615780 ; - oboInOwl:hasDbXref UMLS:C1423787 ; oboInOwl:hasExactSynonym "KIZ", "chromosome 20 open reading frame 19", "kizuna", "kizuna centrosomal protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55857 ; - skos:exactMatch HGNC_symbol:KIZ ; + skos:exactMatch UMLS:C1423787, + HGNC:15865, + HGNC_symbol:KIZ ; biolink:category biolink:Gene . OMIM:615759 a owl:Class ; @@ -338020,13 +352184,14 @@ OMIM:615759 a owl:Class ; PMID:27005418 ; RO:0002525 CHR:9606chr2p25.1 ; RO:0003303 OMIM:619501 ; - oboInOwl:hasDbXref UMLS:C2681631 ; oboInOwl:hasExactSynonym "KIDINS220", "ankyrin repeat-rich membrane-spanning protein", "kinase d-interacting substrate, 220-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57498 ; - skos:exactMatch HGNC_symbol:KIDINS220 ; + skos:exactMatch UMLS:C2681631, + HGNC:29508, + HGNC_symbol:KIDINS220 ; biolink:category biolink:Gene . OMIM:615762 a owl:Class ; @@ -338034,78 +352199,82 @@ OMIM:615762 a owl:Class ; IAO:0000142 PMID:24619944 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:615837 ; - oboInOwl:hasDbXref UMLS:C2681556 ; oboInOwl:hasExactSynonym "GRXCR2", "glutaredoxin, cysteine-rich, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643226 ; - skos:exactMatch HGNC_symbol:GRXCR2 ; + skos:exactMatch UMLS:C2681556, + HGNC:33862, + HGNC_symbol:GRXCR2 ; biolink:category biolink:Gene . OMIM:615764 a owl:Class ; rdfs:label "LSINCT5" ; IAO:0000142 PMID:21532345 ; - oboInOwl:hasDbXref UMLS:C3539331 ; oboInOwl:hasExactSynonym "LSINCT5", "long stress-induced noncoding transcript 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101234261 ; - skos:exactMatch HGNC_symbol:LSINCT5 ; + skos:exactMatch UMLS:C3539331, + HGNC:37824, + HGNC_symbol:LSINCT5 ; biolink:category biolink:Gene . OMIM:615765 a owl:Class ; rdfs:label "SLC16A11" ; IAO:0000142 PMID:12739169, PMID:24390345 ; - oboInOwl:hasDbXref UMLS:C1427910 ; oboInOwl:hasExactSynonym "SLC16A11", "monocarboxylate transporter 11", "solute carrier family 16, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162515 ; - skos:exactMatch HGNC_symbol:SLC16A11 ; + skos:exactMatch UMLS:C1427910, + HGNC:23093, + HGNC_symbol:SLC16A11 ; biolink:category biolink:Gene . OMIM:615766 a owl:Class ; rdfs:label "MTCL1" ; IAO:0000142 PMID:23902687, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C3810928 ; oboInOwl:hasExactSynonym "MTCL1", "kiaa0802", "microtubule crosslinking factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23255 ; - skos:exactMatch HGNC_symbol:MTCL1 ; + skos:exactMatch UMLS:C3810928, + HGNC:29121, + HGNC_symbol:MTCL1 ; biolink:category biolink:Gene . OMIM:615769 a owl:Class ; rdfs:label "FAM169A" ; IAO:0000142 PMID:10048485, PMID:22412018 ; - oboInOwl:hasDbXref UMLS:C2681498 ; oboInOwl:hasExactSynonym "FAM169A", "family with sequence similarity 169, member a", "kiaa0888", "soluble lamina-associated protein, 75-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26049 ; - skos:exactMatch HGNC_symbol:FAM169A ; + skos:exactMatch UMLS:C2681498, + HGNC:29138, + HGNC_symbol:FAM169A ; biolink:category biolink:Gene . OMIM:615771 a owl:Class ; rdfs:label "cortical dysplasia, complex, with other brain malformations 6" ; IAO:0000142 PMID:23246003 ; - oboInOwl:hasDbXref UMLS:C4014283 ; oboInOwl:hasExactSynonym "CDCBM6", "cortical dysplasia, complex, with other brain malformations 6" ; rdfs:subClassOf OMIMPS:614039 ; + skos:exactMatch UMLS:C4014283 ; biolink:category biolink:Disease . OMIM:615772 a owl:Class ; rdfs:label "WFDC21P" ; IAO:0000142 PMID:24744378 ; - oboInOwl:hasDbXref UMLS:C3891272 ; oboInOwl:hasExactSynonym "WFDC21P", "lncdc", "lncrna dc", @@ -338114,29 +352283,33 @@ OMIM:615772 a owl:Class ; "wap four-disulfide core domain 21, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645638 ; - skos:exactMatch HGNC_symbol:WFDC21P ; + skos:exactMatch UMLS:C3891272, + HGNC:50357, + HGNC_symbol:WFDC21P ; biolink:category biolink:Gene . OMIM:615773 a owl:Class ; rdfs:label "SDHAF3" ; - oboInOwl:hasDbXref UMLS:C1427742 ; oboInOwl:hasExactSynonym "SDHAF3", "acn9, s. cerevisiae, homolog of", "succinate dehydrogenase complex assembly factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57001 ; - skos:exactMatch HGNC_symbol:SDHAF3 ; + skos:exactMatch UMLS:C1427742, + HGNC:21752, + HGNC_symbol:SDHAF3 ; biolink:category biolink:Gene . OMIM:615775 a owl:Class ; rdfs:label "SYCE3" ; IAO:0000142 PMID:21637789 ; - oboInOwl:hasDbXref UMLS:C2681319 ; oboInOwl:hasExactSynonym "SYCE3", "synaptonemal complex central element protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644186 ; - skos:exactMatch HGNC_symbol:SYCE3 ; + skos:exactMatch UMLS:C2681319, + HGNC:35245, + HGNC_symbol:SYCE3 ; biolink:category biolink:Gene . OMIM:615776 a owl:Class ; @@ -338146,14 +352319,15 @@ OMIM:615776 a owl:Class ; PMID:16339073, PMID:18042621, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1427476 ; oboInOwl:hasExactSynonym "CROCC", "ciliary rootlet coiled-coil protein", "kiaa0445", "rootletin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9696 ; - skos:exactMatch HGNC_symbol:CROCC ; + skos:exactMatch UMLS:C1427476, + HGNC:21299, + HGNC_symbol:CROCC ; biolink:category biolink:Gene . OMIM:615778 a owl:Class ; @@ -338162,12 +352336,13 @@ OMIM:615778 a owl:Class ; PMID:18242218, PMID:20727355, PMID:24744376 ; - oboInOwl:hasDbXref UMLS:C1413464 ; oboInOwl:hasExactSynonym "CLDN15", "claudin 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24146 ; - skos:exactMatch HGNC_symbol:CLDN15 ; + skos:exactMatch UMLS:C1413464, + HGNC:2036, + HGNC_symbol:CLDN15 ; biolink:category biolink:Gene . OMIM:615781 a owl:Class ; @@ -338176,39 +352351,42 @@ OMIM:615781 a owl:Class ; PMID:28887889 ; RO:0002525 CHR:9606chr2q36.1 ; RO:0003303 OMIM:616106 ; - oboInOwl:hasDbXref UMLS:C1425929, - UMLS:C4015235 ; oboInOwl:hasExactSynonym "AP1S3", "adaptor protein complex 1, sigma-1c subunit", "adaptor-related protein complex 1, sigma-3 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130340 ; - skos:exactMatch HGNC_symbol:AP1S3 ; + skos:exactMatch UMLS:C1425929, + UMLS:C4015235, + HGNC:18971, + HGNC_symbol:AP1S3 ; biolink:category biolink:Gene . OMIM:615782 a owl:Class ; rdfs:label "CIART" ; IAO:0000142 PMID:24385426, PMID:24737000 ; - oboInOwl:hasDbXref UMLS:C1538990 ; oboInOwl:hasExactSynonym "CIART", "circadian-associated repressor of transcription", "computationally highlighted repressor of network oscillator", "gene model 129" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148523 ; - skos:exactMatch HGNC_symbol:CIART ; + skos:exactMatch UMLS:C1538990, + HGNC:25200, + HGNC_symbol:CIART ; biolink:category biolink:Gene . OMIM:615783 a owl:Class ; rdfs:label "NAT16" ; IAO:0000142 PMID:24121108 ; - oboInOwl:hasDbXref UMLS:C3471274 ; oboInOwl:hasExactSynonym "NAT16", "n-acetyltransferase 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375607 ; - skos:exactMatch HGNC_symbol:NAT16 ; + skos:exactMatch UMLS:C3471274, + HGNC:22030, + HGNC_symbol:NAT16 ; biolink:category biolink:Gene . OMIM:615784 a owl:Class ; @@ -338216,25 +352394,27 @@ OMIM:615784 a owl:Class ; IAO:0000142 PMID:15294905, PMID:21215271, PMID:23580780 ; - oboInOwl:hasDbXref UMLS:C1415281 ; oboInOwl:hasExactSynonym "GPX7", "glutathione peroxidase 7", "nonselenocysteine-containing phospholipid hydroperoxide glutathione peroxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2882 ; - skos:exactMatch HGNC_symbol:GPX7 ; + skos:exactMatch UMLS:C1415281, + HGNC:4559, + HGNC_symbol:GPX7 ; biolink:category biolink:Gene . OMIM:615786 a owl:Class ; rdfs:label "NACC2" ; IAO:0000142 PMID:22926524 ; - oboInOwl:hasDbXref UMLS:C1428294 ; oboInOwl:hasExactSynonym "NACC2", "nacc family, member 2, ben and btb/poz domains-containing", "repressor with btb domain and ben domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:138151 ; - skos:exactMatch HGNC_symbol:NACC2 ; + skos:exactMatch UMLS:C1428294, + HGNC:23846, + HGNC_symbol:NACC2 ; biolink:category biolink:Gene . OMIM:615787 a owl:Class ; @@ -338245,27 +352425,29 @@ OMIM:615787 a owl:Class ; PMID:29388319 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:616034 ; - oboInOwl:hasDbXref UMLS:C1857252, - UMLS:C3471268, - UMLS:C5394591 ; oboInOwl:hasExactSynonym "NADK2", "chromosome 5 open reading frame 33", "nad kinase 2, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133686 ; - skos:exactMatch HGNC_symbol:NADK2 ; + skos:exactMatch UMLS:C1857252, + UMLS:C3471268, + UMLS:C5394591, + HGNC:26404, + HGNC_symbol:NADK2 ; biolink:category biolink:Gene . OMIM:615788 a owl:Class ; rdfs:label "N4BP2L2" ; IAO:0000142 PMID:19506020 ; - oboInOwl:hasDbXref UMLS:C2239769 ; oboInOwl:hasExactSynonym "N4BP2L2", "nedd4-binding protein 2-like 2", "phosphonoformate immuno-associated protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10443 ; - skos:exactMatch HGNC_symbol:N4BP2L2 ; + skos:exactMatch UMLS:C2239769, + HGNC:26916, + HGNC_symbol:N4BP2L2 ; biolink:category biolink:Gene . OMIM:615790 a owl:Class ; @@ -338277,19 +352459,19 @@ OMIM:615790 a owl:Class ; PMID:30858058 ; RO:0002525 CHR:9606chr1p36.11-p35.3 ; RO:0003303 OMIM:615829 ; - oboInOwl:hasDbXref UMLS:C1826617, - UMLS:C4014419 ; oboInOwl:hasExactSynonym "AHDC1", "at-hook dna-binding motif-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27245 ; - skos:exactMatch HGNC_symbol:AHDC1 ; + skos:exactMatch UMLS:C1826617, + UMLS:C4014419, + HGNC:25230, + HGNC_symbol:AHDC1 ; biolink:category biolink:Gene . OMIM:615791 a owl:Class ; rdfs:label "NUDT18" ; IAO:0000142 PMID:22556419 ; - oboInOwl:hasDbXref UMLS:C1826491 ; oboInOwl:hasExactSynonym "NUDT18", "mutt homolog 3", "nucleoside diphosphate-linked moiety 10 motif 18", @@ -338297,7 +352479,9 @@ OMIM:615791 a owl:Class ; "nudix motif 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79873 ; - skos:exactMatch HGNC_symbol:NUDT18 ; + skos:exactMatch UMLS:C1826491, + HGNC:26194, + HGNC_symbol:NUDT18 ; biolink:category biolink:Gene . OMIM:615792 a owl:Class ; @@ -338308,7 +352492,6 @@ OMIM:615792 a owl:Class ; PMID:26878724 ; RO:0002525 CHR:9606chr13q14.2 ; RO:0003303 OMIM:616903 ; - oboInOwl:hasDbXref UMLS:C1427884 ; oboInOwl:hasExactSynonym "NUDT15", "mutt homolog 2", "nucleoside diphosphate-linked moiety 10 motif 15", @@ -338316,47 +352499,52 @@ OMIM:615792 a owl:Class ; "nudix motif 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55270 ; - skos:exactMatch HGNC_symbol:NUDT15 ; + skos:exactMatch UMLS:C1427884, + HGNC:23063, + HGNC_symbol:NUDT15 ; biolink:category biolink:Gene . OMIM:615793 a owl:Class ; rdfs:label "ISM1" ; IAO:0000142 PMID:12128218, PMID:21544092 ; - oboInOwl:hasDbXref UMLS:C1424090 ; oboInOwl:hasExactSynonym "ISM1", "isthmin", "isthmin 1", "isthmin 1, angiogenesis inhibitor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140862 ; - skos:exactMatch HGNC_symbol:ISM1 ; + skos:exactMatch UMLS:C1424090, + HGNC:16213, + HGNC_symbol:ISM1 ; biolink:category biolink:Gene . OMIM:615794 a owl:Class ; rdfs:label "FNDC3A" ; IAO:0000142 PMID:10231032, PMID:18218838 ; - oboInOwl:hasDbXref UMLS:C1539524 ; oboInOwl:hasExactSynonym "FNDC3A", "fibronectin iia 3 domain-containing protein 3a", "human gene expressed 1n odontoblasts", "kiaa0970" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22862 ; - skos:exactMatch HGNC_symbol:FNDC3A ; + skos:exactMatch UMLS:C1539524, + HGNC:20296, + HGNC_symbol:FNDC3A ; biolink:category biolink:Gene . OMIM:615795 a owl:Class ; rdfs:label "FSIP1" ; IAO:0000142 PMID:12606363 ; - oboInOwl:hasDbXref UMLS:C1539536 ; oboInOwl:hasExactSynonym "FSIP1", "fibrous sheath-interacting protein 1", "hsd10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161835 ; - skos:exactMatch HGNC_symbol:FSIP1 ; + skos:exactMatch UMLS:C1539536, + HGNC:21674, + HGNC_symbol:FSIP1 ; biolink:category biolink:Gene . OMIM:615796 a owl:Class ; @@ -338365,37 +352553,40 @@ OMIM:615796 a owl:Class ; PMID:30137358 ; RO:0002525 CHR:9606chr2q32.1 ; RO:0003303 OMIM:618153 ; - oboInOwl:hasDbXref UMLS:C1539537 ; oboInOwl:hasExactSynonym "FSIP2", "fibrous sheath-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401024 ; - skos:exactMatch HGNC_symbol:FSIP2 ; + skos:exactMatch UMLS:C1539537, + HGNC:21675, + HGNC_symbol:FSIP2 ; biolink:category biolink:Gene . OMIM:615797 a owl:Class ; rdfs:label "HCG9" ; IAO:0000142 PMID:8575815, PMID:8753856 ; - oboInOwl:hasDbXref UMLS:C1427447 ; oboInOwl:hasExactSynonym "HCG9", "hcgix", "hcgix4", "hla complex group 9, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10255 ; - skos:exactMatch HGNC_symbol:HCG9 ; + skos:exactMatch UMLS:C1427447, + HGNC:21243, + HGNC_symbol:HCG9 ; biolink:category biolink:Gene . OMIM:615798 a owl:Class ; rdfs:label "CLDN6" ; IAO:0000142 PMID:15908185 ; - oboInOwl:hasDbXref UMLS:C1413476 ; oboInOwl:hasExactSynonym "CLDN6", "claudin 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9074 ; - skos:exactMatch HGNC_symbol:CLDN6 ; + skos:exactMatch UMLS:C1413476, + HGNC:2048, + HGNC_symbol:CLDN6 ; biolink:category biolink:Gene . OMIM:615799 a owl:Class ; @@ -338405,25 +352596,27 @@ OMIM:615799 a owl:Class ; PMID:31175426 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:619093 ; - oboInOwl:hasDbXref UMLS:C1413479, - UMLS:C5436789 ; oboInOwl:hasExactSynonym "CLDN9", "claudin 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9080 ; - skos:exactMatch HGNC_symbol:CLDN9 ; + skos:exactMatch UMLS:C1413479, + UMLS:C5436789, + HGNC:2051, + HGNC_symbol:CLDN9 ; biolink:category biolink:Gene . OMIM:615800 a owl:Class ; rdfs:label "FSCN3" ; IAO:0000142 PMID:11925108 ; - oboInOwl:hasDbXref UMLS:C1414821 ; oboInOwl:hasExactSynonym "FSCN3", "fascin actin-bundling protein 3, testicular", "fascin, testis" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29999 ; - skos:exactMatch HGNC_symbol:FSCN3 ; + skos:exactMatch UMLS:C1414821, + HGNC:3961, + HGNC_symbol:FSCN3 ; biolink:category biolink:Gene . OMIM:615801 a owl:Class ; @@ -338433,25 +352626,27 @@ OMIM:615801 a owl:Class ; OMIM:615804 a owl:Class ; rdfs:label "URAD" ; IAO:0000142 PMID:16462750 ; - oboInOwl:hasDbXref UMLS:C3814928 ; oboInOwl:hasExactSynonym "URAD", "ohcu decarboxylase", "ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:646625 ; - skos:exactMatch HGNC_symbol:URAD ; + skos:exactMatch UMLS:C3814928, + HGNC:17785, + HGNC_symbol:URAD ; biolink:category biolink:Gene . OMIM:615805 a owl:Class ; rdfs:label "URAHP" ; IAO:0000142 PMID:16462750 ; - oboInOwl:hasDbXref UMLS:C3814929 ; oboInOwl:hasExactSynonym "URAHP", "hydroxyisourate hydrolase", "urate (hydroxyiso-) hydrolase, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100130015 ; - skos:exactMatch HGNC_symbol:URAHP ; + skos:exactMatch UMLS:C3814929, + HGNC:43695, + HGNC_symbol:URAHP ; biolink:category biolink:Gene . OMIM:615806 a owl:Class ; @@ -338461,97 +352656,104 @@ OMIM:615806 a owl:Class ; PMID:24695226, PMID:25238095, PMID:32433612 ; - oboInOwl:hasDbXref UMLS:C1427907 ; oboInOwl:hasExactSynonym "SLC15A4", "peptide transporter 4", "peptide/histidine transporter 1", "solute carrier family 15 (oligopeptide transporter), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121260 ; - skos:exactMatch HGNC_symbol:SLC15A4 ; + skos:exactMatch UMLS:C1427907, + HGNC:23090, + HGNC_symbol:SLC15A4 ; biolink:category biolink:Gene . OMIM:615807 a owl:Class ; rdfs:label "seckel syndrome 8" ; IAO:0000142 PMID:24389050, PMID:9128935 ; - oboInOwl:hasDbXref UMLS:C3891452 ; oboInOwl:hasExactSynonym "SCKL8", "seckel syndrome 8" ; rdfs:subClassOf OMIMPS:210600 ; + skos:exactMatch UMLS:C3891452 ; biolink:category biolink:Disease . OMIM:615808 a owl:Class ; rdfs:label "TMA7" ; - oboInOwl:hasDbXref UMLS:C1824596 ; oboInOwl:hasExactSynonym "TMA7", "hspc016", "translation machinery-associated 7, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51372 ; - skos:exactMatch HGNC_symbol:TMA7 ; + skos:exactMatch UMLS:C1824596, + HGNC:26932, + HGNC_symbol:TMA7 ; biolink:category biolink:Gene . OMIM:615810 a owl:Class ; rdfs:label "C11ORF54" ; IAO:0000142 PMID:16522806 ; - oboInOwl:hasDbXref UMLS:C1824320 ; oboInOwl:hasExactSynonym "C11ORF54", "chromosome 11 open reading frame 54", "ptd012" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28970 ; - skos:exactMatch HGNC_symbol:C11orf54 ; + skos:exactMatch UMLS:C1824320, + HGNC:30204, + HGNC_symbol:C11orf54 ; biolink:category biolink:Gene . OMIM:615811 a owl:Class ; rdfs:label "PPIL3" ; IAO:0000142 PMID:11435694 ; - oboInOwl:hasDbXref UMLS:C1418802 ; oboInOwl:hasExactSynonym "PPIL3", "peptidyl-prolyl isomerase-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53938 ; - skos:exactMatch HGNC_symbol:PPIL3 ; + skos:exactMatch UMLS:C1418802, + HGNC:9262, + HGNC_symbol:PPIL3 ; biolink:category biolink:Gene . OMIM:615813 a owl:Class ; rdfs:label "FAM193B" ; IAO:0000142 PMID:11572484, PMID:21177767 ; - oboInOwl:hasDbXref UMLS:C2829373 ; oboInOwl:hasExactSynonym "FAM193B", "family with sequence similarity 193, member B", "irizio", "kiaa1931" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54540 ; - skos:exactMatch HGNC_symbol:FAM193B ; + skos:exactMatch UMLS:C2829373, + HGNC:25524, + HGNC_symbol:FAM193B ; biolink:category biolink:Gene . OMIM:615814 a owl:Class ; rdfs:label "STYX" ; IAO:0000142 PMID:23847209, PMID:7592916 ; - oboInOwl:hasDbXref UMLS:C1420509 ; oboInOwl:hasExactSynonym "STYX", "serine/threonine/tyrosine-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6815 ; - skos:exactMatch HGNC_symbol:STYX ; + skos:exactMatch UMLS:C1420509, + HGNC:11447, + HGNC_symbol:STYX ; biolink:category biolink:Gene . OMIM:615815 a owl:Class ; rdfs:label "SENCR" ; IAO:0000142 PMID:24578380, PMID:30584103 ; - oboInOwl:hasDbXref UMLS:C3811474 ; oboInOwl:hasExactSynonym "SENCR", "long noncoding RNA 9", "smooth muscle- and endothelial cell-enriched migration/differentiation-associated long noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507392 ; - skos:exactMatch HGNC_symbol:SENCR ; + skos:exactMatch UMLS:C3811474, + HGNC:44177, + HGNC_symbol:SENCR ; biolink:category biolink:Gene . OMIM:615818 a owl:Class ; @@ -338559,7 +352761,6 @@ OMIM:615818 a owl:Class ; IAO:0000142 PMID:18485871, PMID:23897426, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C2680360 ; oboInOwl:hasExactSynonym "RRP8", "kiaa0409", "nucleomethylin", @@ -338567,18 +352768,21 @@ OMIM:615818 a owl:Class ; "ribosomal RNA processing protein 8, methyltransferase, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23378 ; - skos:exactMatch HGNC_symbol:RRP8 ; + skos:exactMatch UMLS:C2680360, + HGNC:29030, + HGNC_symbol:RRP8 ; biolink:category biolink:Gene . OMIM:615819 a owl:Class ; rdfs:label "SULT1A4" ; IAO:0000142 PMID:15358107 ; - oboInOwl:hasDbXref UMLS:C1823148 ; oboInOwl:hasExactSynonym "SULT1A4", "sulfotransferase family 1a, cytosolic, phenol-preferring, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:445329 ; - skos:exactMatch HGNC_symbol:SULT1A4 ; + skos:exactMatch UMLS:C1823148, + HGNC:30004, + HGNC_symbol:SULT1A4 ; biolink:category biolink:Gene . OMIM:615820 a owl:Class ; @@ -338588,13 +352792,14 @@ OMIM:615820 a owl:Class ; PMID:3859241 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:610100 ; - oboInOwl:hasDbXref UMLS:C1538083 ; oboInOwl:hasExactSynonym "DCAF8", "ddb1- and cul4-associated factor 8", "wd repeat-containing protein 42a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50717 ; - skos:exactMatch HGNC_symbol:DCAF8 ; + skos:exactMatch UMLS:C1538083, + HGNC:24891, + HGNC_symbol:DCAF8 ; biolink:category biolink:Gene . OMIM:615821 a owl:Class ; @@ -338604,10 +352809,10 @@ OMIM:615821 a owl:Class ; PMID:22795705, PMID:26073755, PMID:26604139 ; - oboInOwl:hasDbXref UMLS:C4014393, - ORPHA:65282 ; oboInOwl:hasExactSynonym "DCWHKTA", "cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis" ; + skos:exactMatch UMLS:C4014393, + ORPHA:65282 ; biolink:category biolink:Disease . OMIM:615822 a owl:Class ; @@ -338615,14 +352820,15 @@ OMIM:615822 a owl:Class ; IAO:0000142 PMID:15358107, PMID:19596235, PMID:19596236 ; - oboInOwl:hasDbXref UMLS:C3146466 ; oboInOwl:hasExactSynonym "SLX1A", "giy-yig domain containing protein 1", "slx1 homolog a, structure-specific endonuclease subunit", "slx1 structure-specific endonuclease subunit, s. cerevisiae, homolog, of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:548593 ; - skos:exactMatch HGNC_symbol:SLX1A ; + skos:exactMatch UMLS:C3146466, + HGNC:20922, + HGNC_symbol:SLX1A ; biolink:category biolink:Gene . OMIM:615823 a owl:Class ; @@ -338630,50 +352836,54 @@ OMIM:615823 a owl:Class ; IAO:0000142 PMID:15358107, PMID:19596235, PMID:19596236 ; - oboInOwl:hasDbXref UMLS:C1825355 ; oboInOwl:hasExactSynonym "SLX1B", "giy-yig domain containing protein 2", "slx1 homolog b, structure-specific endonuclease subunit", "slx1 structure-specific endonuclease subunit, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79008 ; - skos:exactMatch HGNC_symbol:SLX1B ; + skos:exactMatch UMLS:C1825355, + HGNC:28748, + HGNC_symbol:SLX1B ; biolink:category biolink:Gene . OMIM:615825 a owl:Class ; rdfs:label "SUSD2" ; IAO:0000142 PMID:23131994 ; - oboInOwl:hasDbXref UMLS:C1428987 ; oboInOwl:hasExactSynonym "SUSD2", "sushi domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56241 ; - skos:exactMatch HGNC_symbol:SUSD2 ; + skos:exactMatch UMLS:C1428987, + HGNC:30667, + HGNC_symbol:SUSD2 ; biolink:category biolink:Gene . OMIM:615826 a owl:Class ; rdfs:label "STPG1" ; IAO:0000142 PMID:23028632 ; - oboInOwl:hasDbXref UMLS:C1823813 ; oboInOwl:hasExactSynonym "STPG1", "chromosome 1 open reading frame 201", "o(6)-methylguanine-induced apoptosis 2", "sperm-tail pg-rich repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90529 ; - skos:exactMatch HGNC_symbol:STPG1 ; + skos:exactMatch UMLS:C1823813, + HGNC:28070, + HGNC_symbol:STPG1 ; biolink:category biolink:Gene . OMIM:615827 a owl:Class ; rdfs:label "SUSD4" ; IAO:0000142 PMID:20348246, PMID:23482636 ; - oboInOwl:hasDbXref UMLS:C1539899 ; oboInOwl:hasExactSynonym "SUSD4", "sushi domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55061 ; - skos:exactMatch HGNC_symbol:SUSD4 ; + skos:exactMatch UMLS:C1539899, + HGNC:25470, + HGNC_symbol:SUSD4 ; biolink:category biolink:Gene . OMIM:615831 a owl:Class ; @@ -338683,24 +352893,26 @@ OMIM:615831 a owl:Class ; PMID:26912632 ; RO:0002525 CHR:9606chr5q23.3-q31.1 ; RO:0003303 OMIM:615838 ; - oboInOwl:hasDbXref UMLS:C1825926 ; oboInOwl:hasExactSynonym "LYRM7", "lyr motif-containing protein 7", "mzm1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90624 ; - skos:exactMatch HGNC_symbol:LYRM7 ; + skos:exactMatch UMLS:C1825926, + HGNC:28072, + HGNC_symbol:LYRM7 ; biolink:category biolink:Gene . OMIM:615832 a owl:Class ; rdfs:label "UBE2QL1" ; IAO:0000142 PMID:24000165 ; - oboInOwl:hasDbXref UMLS:C2828998 ; oboInOwl:hasExactSynonym "UBE2QL1", "ubiquitin-conjugating enzyme e2q family-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134111 ; - skos:exactMatch HGNC_symbol:UBE2QL1 ; + skos:exactMatch UMLS:C2828998, + HGNC:37269, + HGNC_symbol:UBE2QL1 ; biolink:category biolink:Gene . OMIM:615835 a owl:Class ; @@ -338708,8 +352920,8 @@ OMIM:615835 a owl:Class ; IAO:0000142 PMID:15616553, PMID:22321652, PMID:24560518 ; - oboInOwl:hasDbXref UMLS:C4014436 ; oboInOwl:hasExactSynonym "chromosome 16 inversion, 0.45-mb" ; + skos:exactMatch UMLS:C4014436 ; biolink:category biolink:Disease . OMIM:615836 a owl:Class ; @@ -338717,7 +352929,6 @@ OMIM:615836 a owl:Class ; IAO:0000142 PMID:10231032, PMID:15037617, PMID:15067004 ; - oboInOwl:hasDbXref UMLS:C1425129 ; oboInOwl:hasExactSynonym "STK38L", "kiaa0965", "nuclear dbf2-related protein 2", @@ -338725,31 +352936,35 @@ OMIM:615836 a owl:Class ; "stk38-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23012 ; - skos:exactMatch HGNC_symbol:STK38L ; + skos:exactMatch UMLS:C1425129, + HGNC:17848, + HGNC_symbol:STK38L ; biolink:category biolink:Gene . OMIM:615839 a owl:Class ; rdfs:label "DECR2" ; IAO:0000142 PMID:11514237 ; - oboInOwl:hasDbXref UMLS:C1413970 ; oboInOwl:hasExactSynonym "2,4-dienoyl-coa reductase 2, peroxisomal", "DECR2", "pdcr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26063 ; - skos:exactMatch HGNC_symbol:DECR2 ; + skos:exactMatch UMLS:C1413970, + HGNC:2754, + HGNC_symbol:DECR2 ; biolink:category biolink:Gene . OMIM:615840 a owl:Class ; rdfs:label "DCTPP1" ; IAO:0000142 PMID:24467396 ; - oboInOwl:hasDbXref UMLS:C2681404 ; oboInOwl:hasExactSynonym "DCTPP1", "dctp pyrophosphatase 1", "deoxycytidine triphosphatase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79077 ; - skos:exactMatch HGNC_symbol:DCTPP1 ; + skos:exactMatch UMLS:C2681404, + HGNC:28777, + HGNC_symbol:DCTPP1 ; biolink:category biolink:Gene . OMIM:615843 a owl:Class ; @@ -338764,15 +352979,16 @@ OMIM:615843 a owl:Class ; PMID:9188692 ; RO:0002525 CHR:9606chr1q42.11 ; RO:0003303 OMIM:618404 ; - oboInOwl:hasDbXref UMLS:C1539265, - UMLS:C5193078 ; oboInOwl:hasExactSynonym "DEGS1", "delta(4)-desaturase, sphingolipid, 1", "dihydroceramide desaturase 1", "membrane lipid desaturase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8560 ; - skos:exactMatch HGNC_symbol:DEGS1 ; + skos:exactMatch UMLS:C1539265, + UMLS:C5193078, + HGNC:13709, + HGNC_symbol:DEGS1 ; biolink:category biolink:Gene . OMIM:615844 a owl:Class ; @@ -338781,26 +352997,28 @@ OMIM:615844 a owl:Class ; PMID:32004446 ; RO:0002525 CHR:9606chr11q12.2 ; RO:0003303 OMIM:618805 ; - oboInOwl:hasDbXref UMLS:C1824882, - UMLS:C5394125 ; oboInOwl:hasExactSynonym "TKFC", "dha kinase/fmn cyclase", "dihydroxyacetone kinase 2, s. cerevisiae, homolog of", "triokinase and fmn cyclase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26007 ; - skos:exactMatch HGNC_symbol:TKFC ; + skos:exactMatch UMLS:C1824882, + UMLS:C5394125, + HGNC:24552, + HGNC_symbol:TKFC ; biolink:category biolink:Gene . OMIM:615845 a owl:Class ; rdfs:label "MIR190A" ; IAO:0000142 PMID:24009311 ; - oboInOwl:hasDbXref UMLS:C3470964 ; oboInOwl:hasExactSynonym "MIR190A", "micro RNA 190a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406965 ; - skos:exactMatch HGNC_symbol:MIR190A ; + skos:exactMatch UMLS:C3470964, + HGNC:31560, + HGNC_symbol:MIR190A ; biolink:category biolink:Gene . OMIM:615846 a owl:Class ; @@ -338810,10 +353028,10 @@ OMIM:615846 a owl:Class ; PMID:25243380, PMID:30219631, PMID:30965144 ; - oboInOwl:hasDbXref UMLS:C3888244 ; oboInOwl:hasExactSynonym "AGS7", "aicardi-goutieres syndrome 7" ; rdfs:subClassOf OMIMPS:225750 ; + skos:exactMatch UMLS:C3888244 ; biolink:category biolink:Disease . OMIM:615847 a owl:Class ; @@ -338823,15 +353041,16 @@ OMIM:615847 a owl:Class ; PMID:32238932 ; RO:0002525 CHR:9606chr12q22 ; RO:0003303 OMIM:615862 ; - oboInOwl:hasDbXref UMLS:C1824565, - UMLS:C3890591 ; oboInOwl:hasExactSynonym "CEP83", "centrosomal protein, 83-kd", "coiled-coil domain-containing protein 41", "renal carcinoma antigen ny-ren-58" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51134 ; - skos:exactMatch HGNC_symbol:CEP83 ; + skos:exactMatch UMLS:C1824565, + UMLS:C3890591, + HGNC:17966, + HGNC_symbol:CEP83 ; biolink:category biolink:Gene . OMIM:615849 a owl:Class ; @@ -338842,10 +353061,10 @@ OMIM:615849 a owl:Class ; PMID:22967285, PMID:24744436, PMID:6726521 ; - oboInOwl:hasDbXref UMLS:C4014479 ; oboInOwl:hasExactSynonym "CJS", "culler-jones syndrome", "pallister-hall syndrome 2, formerly" ; + skos:exactMatch UMLS:C4014479 ; biolink:category biolink:Disease . OMIM:615850 a owl:Class ; @@ -338858,14 +353077,15 @@ OMIM:615850 a owl:Class ; PMID:30100179 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:615851 ; - oboInOwl:hasDbXref UMLS:C1823644 ; oboInOwl:hasExactSynonym "VPS53", "hccs1", "vacuolar protein sorting 53, s. cerevisiae, homolog of", "vps53 subunit of garp complex" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55275 ; - skos:exactMatch HGNC_symbol:VPS53 ; + skos:exactMatch UMLS:C1823644, + HGNC:25608, + HGNC_symbol:VPS53 ; biolink:category biolink:Gene . OMIM:615852 a owl:Class ; @@ -338874,25 +353094,27 @@ OMIM:615852 a owl:Class ; PMID:16790928, PMID:17707369, PMID:20360680 ; - oboInOwl:hasDbXref UMLS:C1423040 ; oboInOwl:hasExactSynonym "RAB6B", "ras-associated protein rab6b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51560 ; - skos:exactMatch HGNC_symbol:RAB6B ; + skos:exactMatch UMLS:C1423040, + HGNC:14902, + HGNC_symbol:RAB6B ; biolink:category biolink:Gene . OMIM:615853 a owl:Class ; rdfs:label "PAOX" ; IAO:0000142 PMID:12477380, PMID:12660232 ; - oboInOwl:hasDbXref UMLS:C1427155 ; oboInOwl:hasExactSynonym "PAOX", "pao", "polyamine oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196743 ; - skos:exactMatch HGNC_symbol:PAOX ; + skos:exactMatch UMLS:C1427155, + HGNC:20837, + HGNC_symbol:PAOX ; biolink:category biolink:Gene . OMIM:615854 a owl:Class ; @@ -338901,7 +353123,6 @@ OMIM:615854 a owl:Class ; PMID:12398765, PMID:12477380, PMID:16207710 ; - oboInOwl:hasDbXref UMLS:C1423784 ; oboInOwl:hasExactSynonym "SMOX", "chromosome 20 open reading frame 16", "paoh", @@ -338910,29 +353131,33 @@ OMIM:615854 a owl:Class ; "spermine oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54498 ; - skos:exactMatch HGNC_symbol:SMOX ; + skos:exactMatch UMLS:C1423784, + HGNC:15862, + HGNC_symbol:SMOX ; biolink:category biolink:Gene . OMIM:615855 a owl:Class ; rdfs:label "TMTC1" ; IAO:0000142 PMID:24764305 ; - oboInOwl:hasDbXref UMLS:C1823451 ; oboInOwl:hasExactSynonym "TMTC1", "transmembrane and tetratricopeptide repeat domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83857 ; - skos:exactMatch HGNC_symbol:TMTC1 ; + skos:exactMatch UMLS:C1823451, + HGNC:24099, + HGNC_symbol:TMTC1 ; biolink:category biolink:Gene . OMIM:615856 a owl:Class ; rdfs:label "TMTC2" ; IAO:0000142 PMID:24764305 ; - oboInOwl:hasDbXref UMLS:C1823452 ; oboInOwl:hasExactSynonym "TMTC2", "transmembrane and tetratricopeptide repeat domains-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160335 ; - skos:exactMatch HGNC_symbol:TMTC2 ; + skos:exactMatch UMLS:C1823452, + HGNC:25440, + HGNC_symbol:TMTC2 ; biolink:category biolink:Gene . OMIM:615857 a owl:Class ; @@ -338940,48 +353165,52 @@ OMIM:615857 a owl:Class ; IAO:0000142 PMID:20154146, PMID:20579638, PMID:24550447 ; - oboInOwl:hasDbXref UMLS:C1826509 ; oboInOwl:hasExactSynonym "2-oxoglutarate- and iron-dependent oxygenase domain-containing protein 1", "OGFOD1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55239 ; - skos:exactMatch HGNC_symbol:OGFOD1 ; + skos:exactMatch UMLS:C1826509, + HGNC:25585, + HGNC_symbol:OGFOD1 ; biolink:category biolink:Gene . OMIM:615858 a owl:Class ; rdfs:label "RSBN1" ; IAO:0000142 PMID:14724137 ; - oboInOwl:hasDbXref UMLS:C1539705 ; oboInOwl:hasExactSynonym "RSBN1", "rosbin", "round spermatid basic protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54665 ; - skos:exactMatch HGNC_symbol:RSBN1 ; + skos:exactMatch UMLS:C1539705, + HGNC:25642, + HGNC_symbol:RSBN1 ; biolink:category biolink:Gene . OMIM:615864 a owl:Class ; rdfs:label "CEP97" ; IAO:0000142 PMID:17719545 ; - oboInOwl:hasDbXref UMLS:C1537615 ; oboInOwl:hasExactSynonym "CEP97", "centrosomal protein, 97-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79598 ; - skos:exactMatch HGNC_symbol:CEP97 ; + skos:exactMatch UMLS:C1537615, + HGNC:26244, + HGNC_symbol:CEP97 ; biolink:category biolink:Gene . OMIM:615865 a owl:Class ; rdfs:label "NEURL4" ; IAO:0000142 PMID:11347906, PMID:22441691 ; - oboInOwl:hasDbXref UMLS:C2681899 ; oboInOwl:hasExactSynonym "NEURL4", "kiaa1787", "neuralized e3 ubiquitin protein ligase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84461 ; - skos:exactMatch HGNC_symbol:NEURL4 ; + skos:exactMatch UMLS:C2681899, + HGNC:34410, + HGNC_symbol:NEURL4 ; biolink:category biolink:Gene . OMIM:615867 a owl:Class ; @@ -338989,39 +353218,42 @@ OMIM:615867 a owl:Class ; IAO:0000142 PMID:17963220, PMID:20159594, PMID:24285566 ; - oboInOwl:hasDbXref UMLS:C1427574 ; oboInOwl:hasExactSynonym "TBC1D32", "broad-minded, mouse, homolog of", "tbc1 domain family, member 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221322 ; - skos:exactMatch HGNC_symbol:TBC1D32 ; + skos:exactMatch UMLS:C1427574, + HGNC:21485, + HGNC_symbol:TBC1D32 ; biolink:category biolink:Gene . OMIM:615868 a owl:Class ; rdfs:label "SPINK6" ; IAO:0000142 PMID:20667819, PMID:24352040 ; - oboInOwl:hasDbXref UMLS:C1539843 ; oboInOwl:hasExactSynonym "SPINK6", "serine peptidase inhibitor, kazal-type, 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:404203 ; - skos:exactMatch HGNC_symbol:SPINK6 ; + skos:exactMatch UMLS:C1539843, + HGNC:29486, + HGNC_symbol:SPINK6 ; biolink:category biolink:Gene . OMIM:615869 a owl:Class ; rdfs:label "TNFAIP8L1" ; IAO:0000142 PMID:21600655, PMID:24444419 ; - oboInOwl:hasDbXref UMLS:C1823457 ; oboInOwl:hasExactSynonym "TNFAIP8L1", "oxi-beta", "tnfaip8-like 1", "tumor necrosis factor-alpha-induced protein 8-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126282 ; - skos:exactMatch HGNC_symbol:TNFAIP8L1 ; + skos:exactMatch UMLS:C1823457, + HGNC:28279, + HGNC_symbol:TNFAIP8L1 ; biolink:category biolink:Gene . OMIM:615870 a owl:Class ; @@ -339030,7 +353262,6 @@ OMIM:615870 a owl:Class ; PMID:24488770 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:615996 ; - oboInOwl:hasDbXref UMLS:C1425658 ; oboInOwl:hasExactSynonym "IFT27", "bbs19 gene", "intraflagellar transport 27", @@ -339038,45 +353269,49 @@ OMIM:615870 a owl:Class ; "rab-like protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11020 ; - skos:exactMatch HGNC_symbol:IFT27 ; + skos:exactMatch UMLS:C1425658, + HGNC:18626, + HGNC_symbol:IFT27 ; biolink:category biolink:Gene . OMIM:615871 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 24" ; IAO:0000142 PMID:24747641, PMID:30351409 ; - oboInOwl:hasDbXref UMLS:C4014531, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE24", "developmental and epileptic encephalopathy 24", "epileptic encephalopathy, early infantile, 24" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4014531, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:615874 a owl:Class ; rdfs:label "RSL1D1" ; IAO:0000142 PMID:18678645 ; - oboInOwl:hasDbXref UMLS:C1539707 ; oboInOwl:hasExactSynonym "RSL1D1", "cellular senescence-inhibited gene", "pbk1", "ribosomal l1 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26156 ; - skos:exactMatch HGNC_symbol:RSL1D1 ; + skos:exactMatch UMLS:C1539707, + HGNC:24534, + HGNC_symbol:RSL1D1 ; biolink:category biolink:Gene . OMIM:615875 a owl:Class ; rdfs:label "RWDD3" ; IAO:0000142 PMID:17956732, PMID:23508108 ; - oboInOwl:hasDbXref UMLS:C1427538 ; oboInOwl:hasExactSynonym "RWDD3", "rwd domain-containing protein 3", "rwd-containing sumoylation enhancer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25950 ; - skos:exactMatch HGNC_symbol:RWDD3 ; + skos:exactMatch UMLS:C1427538, + HGNC:21393, + HGNC_symbol:RWDD3 ; biolink:category biolink:Gene . OMIM:615876 a owl:Class ; @@ -339086,7 +353321,6 @@ OMIM:615876 a owl:Class ; PMID:26073779 ; RO:0002525 CHR:9606chr6q25.3 ; RO:0003303 OMIM:616481 ; - oboInOwl:hasDbXref UMLS:C1427276 ; oboInOwl:hasExactSynonym "RSPH3", "radial spoke head 3", "radial spoke head 3, chlamydomonas, homolog of", @@ -339094,7 +353328,9 @@ OMIM:615876 a owl:Class ; "radial spokehead-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83861 ; - skos:exactMatch HGNC_symbol:RSPH3 ; + skos:exactMatch UMLS:C1427276, + HGNC:21054, + HGNC_symbol:RSPH3 ; biolink:category biolink:Gene . OMIM:615878 a owl:Class ; @@ -339102,10 +353338,10 @@ OMIM:615878 a owl:Class ; IAO:0000142 PMID:18172007, PMID:24614073, PMID:25921221 ; - oboInOwl:hasDbXref UMLS:C2931067 ; oboInOwl:hasExactSynonym "PFIC4", "cholestasis, progressive familial intrahepatic, 4" ; rdfs:subClassOf OMIMPS:211600 ; + skos:exactMatch UMLS:C2931067 ; biolink:category biolink:Disease . OMIM:615880 a owl:Class ; @@ -339113,27 +353349,29 @@ OMIM:615880 a owl:Class ; IAO:0000142 PMID:11214970, PMID:15342493, PMID:24656827 ; - oboInOwl:hasDbXref UMLS:C2828633 ; oboInOwl:hasExactSynonym "ARHGAP39", "kiaa1688", "rho gtpase-activating protein 39", "vilse" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80728 ; - skos:exactMatch HGNC_symbol:ARHGAP39 ; + skos:exactMatch UMLS:C2828633, + HGNC:29351, + HGNC_symbol:ARHGAP39 ; biolink:category biolink:Gene . OMIM:615882 a owl:Class ; rdfs:label "RABGAP1" ; IAO:0000142 PMID:10202141 ; - oboInOwl:hasDbXref UMLS:C1424782 ; oboInOwl:hasExactSynonym "RABGAP1", "gtpase-activating protein, centrosome-associated", "rab gtpase-activating protein 1", "tbc1 domain family, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23637 ; - skos:exactMatch HGNC_symbol:RABGAP1 ; + skos:exactMatch UMLS:C1424782, + HGNC:17155, + HGNC_symbol:RABGAP1 ; biolink:category biolink:Gene . OMIM:615884 a owl:Class ; @@ -339141,27 +353379,29 @@ OMIM:615884 a owl:Class ; IAO:0000142 PMID:10945474, PMID:11583587, PMID:18513186 ; - oboInOwl:hasDbXref UMLS:C1421897 ; oboInOwl:hasExactSynonym "APMAP", "adipocyte plasma membrane-associated protein", "bscv", "chromosome 20 open reading frame 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57136 ; - skos:exactMatch HGNC_symbol:APMAP ; + skos:exactMatch UMLS:C1421897, + HGNC:13238, + HGNC_symbol:APMAP ; biolink:category biolink:Gene . OMIM:615886 a owl:Class ; rdfs:label "FAM83G" ; IAO:0000142 PMID:24554596, PMID:24832243 ; - oboInOwl:hasDbXref UMLS:C1825167 ; oboInOwl:hasExactSynonym "FAM83G", "family with sequence similarity 83, member g", "protein associated with smad1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:644815 ; - skos:exactMatch HGNC_symbol:FAM83G ; + skos:exactMatch UMLS:C1825167, + HGNC:32554, + HGNC_symbol:FAM83G ; biolink:category biolink:Gene . OMIM:615887 a owl:Class ; @@ -339169,10 +353409,10 @@ OMIM:615887 a owl:Class ; IAO:0000142 PMID:23375655, PMID:24621671, PMID:3150442 ; - oboInOwl:hasDbXref UMLS:C4014578 ; oboInOwl:hasExactSynonym "AI2A5", "amelogenesis imperfecta, hypomaturation type, iia5" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C4014578 ; biolink:category biolink:Disease . OMIM:615890 a owl:Class ; @@ -339180,39 +353420,42 @@ OMIM:615890 a owl:Class ; IAO:0000142 PMID:10893222, PMID:11243854, PMID:19229290 ; - oboInOwl:hasDbXref UMLS:C1825008 ; oboInOwl:hasExactSynonym "DYNC1LI1", "dynein light chain a", "dynein, cytoplasmic 1, light intermediate chain 1", "light intermediate chain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51143 ; - skos:exactMatch HGNC_symbol:DYNC1LI1 ; + skos:exactMatch UMLS:C1825008, + HGNC:18745, + HGNC_symbol:DYNC1LI1 ; biolink:category biolink:Gene . OMIM:615891 a owl:Class ; rdfs:label "ZBTB8OS" ; IAO:0000142 PMID:24870230 ; - oboInOwl:hasDbXref UMLS:C1538146 ; oboInOwl:hasExactSynonym "ZBTB8OS", "archease", "zinc finger- and btb domain-containing protein 8, opposite strand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339487 ; - skos:exactMatch HGNC_symbol:ZBTB8OS ; + skos:exactMatch UMLS:C1538146, + HGNC:24094, + HGNC_symbol:ZBTB8OS ; biolink:category biolink:Gene . OMIM:615893 a owl:Class ; rdfs:label "NEURL1B" ; IAO:0000142 PMID:17003037, PMID:19723503 ; - oboInOwl:hasDbXref UMLS:C2681897 ; oboInOwl:hasExactSynonym "NEURL1B", "neuralized 2", "neuralized e3 ubiquitin protein ligase 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54492 ; - skos:exactMatch HGNC_symbol:NEURL1B ; + skos:exactMatch UMLS:C2681897, + HGNC:35422, + HGNC_symbol:NEURL1B ; biolink:category biolink:Gene . OMIM:615894 a owl:Class ; @@ -339221,12 +353464,13 @@ OMIM:615894 a owl:Class ; PMID:24907849 ; RO:0002525 CHR:9606chr18q22.3 ; RO:0003303 OMIM:619557 ; - oboInOwl:hasDbXref UMLS:C1426519 ; oboInOwl:hasExactSynonym "ZNF407", "zinc finger protein 407" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55628 ; - skos:exactMatch HGNC_symbol:ZNF407 ; + skos:exactMatch UMLS:C1426519, + HGNC:19904, + HGNC_symbol:ZNF407 ; biolink:category biolink:Gene . OMIM:615898 a owl:Class ; @@ -339235,24 +353479,26 @@ OMIM:615898 a owl:Class ; PMID:24089531, PMID:24838397, PMID:28837730 ; - oboInOwl:hasDbXref UMLS:C2240250 ; oboInOwl:hasExactSynonym "NADH dehydrogenase (ubiquinone) complex i, assembly factor 7", "NDUFAF7", "mitochondrial dysfunction protein a, dictyostelium, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55471 ; - skos:exactMatch HGNC_symbol:NDUFAF7 ; + skos:exactMatch UMLS:C2240250, + HGNC:28816, + HGNC_symbol:NDUFAF7 ; biolink:category biolink:Gene . OMIM:615899 a owl:Class ; rdfs:label "OLFML2A" ; IAO:0000142 PMID:22913984 ; - oboInOwl:hasDbXref UMLS:C1538534 ; oboInOwl:hasExactSynonym "OLFML2A", "olfactomedin-like 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:169611 ; - skos:exactMatch HGNC_symbol:OLFML2A ; + skos:exactMatch UMLS:C1538534, + HGNC:27270, + HGNC_symbol:OLFML2A ; biolink:category biolink:Gene . OMIM:615900 a owl:Class ; @@ -339262,25 +353508,27 @@ OMIM:615900 a owl:Class ; PMID:26720455 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:617023 ; - oboInOwl:hasDbXref UMLS:C2239294 ; oboInOwl:hasExactSynonym "AGBL5", "aatp/gtp-binding protein-like 5", "cytosolic carboxypeptidase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60509 ; - skos:exactMatch HGNC_symbol:AGBL5 ; + skos:exactMatch UMLS:C2239294, + HGNC:26147, + HGNC_symbol:AGBL5 ; biolink:category biolink:Gene . OMIM:615901 a owl:Class ; rdfs:label "NCCRP1" ; IAO:0000142 PMID:22087255 ; - oboInOwl:hasDbXref UMLS:C2681859 ; oboInOwl:hasExactSynonym "NCCRP1", "f-box only protein 50", "nonspecific cytotoxic cell receptor protein 1, zebrafish, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342897 ; - skos:exactMatch HGNC_symbol:NCCRP1 ; + skos:exactMatch UMLS:C2681859, + HGNC:33739, + HGNC_symbol:NCCRP1 ; biolink:category biolink:Gene . OMIM:615902 a owl:Class ; @@ -339290,13 +353538,14 @@ OMIM:615902 a owl:Class ; PMID:30893644 ; RO:0002525 CHR:9606chr14q13.2 ; RO:0003303 OMIM:618420 ; - oboInOwl:hasDbXref UMLS:C1424980 ; oboInOwl:hasExactSynonym "PPP2R3C", "g5pr", "protein phosphatase 2, regulatory subunit b-double prime, gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55012 ; - skos:exactMatch HGNC_symbol:PPP2R3C ; + skos:exactMatch UMLS:C1424980, + HGNC:17485, + HGNC_symbol:PPP2R3C ; biolink:category biolink:Gene . OMIM:615903 a owl:Class ; @@ -339311,19 +353560,19 @@ OMIM:615903 a owl:Class ; PMID:9324076 ; RO:0002525 CHR:9606chr22q11.23 ; RO:0003303 OMIM:615048 ; - oboInOwl:hasDbXref UMLS:C1538423 ; oboInOwl:hasExactSynonym "CHCHD10", "coiled-coil-helix-coiled-coil-helix domain-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400916 ; - skos:exactMatch HGNC_symbol:CHCHD10 ; + skos:exactMatch UMLS:C1538423, + HGNC:15559, + HGNC_symbol:CHCHD10 ; biolink:category biolink:Gene . OMIM:615904 a owl:Class ; rdfs:label "PXDNL" ; IAO:0000142 PMID:18929642, PMID:22543864 ; - oboInOwl:hasDbXref UMLS:C1826746 ; oboInOwl:hasExactSynonym "PXDNL", "peroxidasin, drosophila, homolog-like", "peroxidasin-like protein", @@ -339331,7 +353580,9 @@ OMIM:615904 a owl:Class ; "vascular peroxidase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137902 ; - skos:exactMatch HGNC_symbol:PXDNL ; + skos:exactMatch UMLS:C1826746, + HGNC:26359, + HGNC_symbol:PXDNL ; biolink:category biolink:Gene . OMIM:615906 a owl:Class ; @@ -339339,27 +353590,29 @@ OMIM:615906 a owl:Class ; IAO:0000142 PMID:15057823, PMID:23636947, PMID:23883936 ; - oboInOwl:hasDbXref UMLS:C1426846 ; oboInOwl:hasExactSynonym "OBI1", "chromosome 13 open reading frame 7", "orc ubiquitin ligase 1", "ring finger protein 219" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79596 ; - skos:exactMatch HGNC_symbol:OBI1 ; + skos:exactMatch UMLS:C1426846, + HGNC:20308, + HGNC_symbol:OBI1 ; biolink:category biolink:Gene . OMIM:615908 a owl:Class ; rdfs:label "MIR520C" ; IAO:0000142 PMID:16381832, PMID:24497838 ; - oboInOwl:hasDbXref UMLS:C1826098 ; oboInOwl:hasExactSynonym "MIR520C", "micro RNA 520c", "mirna520c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574476 ; - skos:exactMatch HGNC_symbol:MIR520C ; + skos:exactMatch UMLS:C1826098, + HGNC:32108, + HGNC_symbol:MIR520C ; biolink:category biolink:Gene . OMIM:615910 a owl:Class ; @@ -339371,107 +353624,114 @@ OMIM:615910 a owl:Class ; PMID:32462209 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:618321 ; - oboInOwl:hasDbXref UMLS:C2681323, - UMLS:C5193026 ; oboInOwl:hasExactSynonym "(s)-nadph-hydrate dehydratase, atp-dependent", "NAXD", "carbohydrate kinase domain-containing protein", "nad(p)hx dehydratase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55739 ; - skos:exactMatch HGNC_symbol:NAXD ; + skos:exactMatch UMLS:C2681323, + UMLS:C5193026, + HGNC:25576, + HGNC_symbol:NAXD ; biolink:category biolink:Gene . OMIM:615911 a owl:Class ; rdfs:label "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" ; IAO:0000142 PMID:24934289 ; - oboInOwl:hasDbXref UMLS:C4014648 ; oboInOwl:hasExactSynonym "FTDALS2", "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" ; rdfs:subClassOf OMIMPS:105400, OMIMPS:105550 ; + skos:exactMatch UMLS:C4014648 ; biolink:category biolink:Disease . OMIM:615912 a owl:Class ; rdfs:label "GSTCD" ; IAO:0000142 PMID:24058608 ; - oboInOwl:hasDbXref UMLS:C1825425 ; oboInOwl:hasExactSynonym "GSTCD", "glutathione s-transferase c-terminal domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79807 ; - skos:exactMatch HGNC_symbol:GSTCD ; + skos:exactMatch UMLS:C1825425, + HGNC:25806, + HGNC_symbol:GSTCD ; biolink:category biolink:Gene . OMIM:615913 a owl:Class ; rdfs:label "PM20D2" ; IAO:0000142 PMID:24891507 ; - oboInOwl:hasDbXref UMLS:C1427553 ; oboInOwl:hasExactSynonym "PM20D2", "aminoacylase 1-like 2", "peptidase m20 domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135293 ; - skos:exactMatch HGNC_symbol:PM20D2 ; + skos:exactMatch UMLS:C1427553, + HGNC:21408, + HGNC_symbol:PM20D2 ; biolink:category biolink:Gene . OMIM:615914 a owl:Class ; rdfs:label "CDKN2AIP" ; IAO:0000142 PMID:12154087, PMID:24825908 ; - oboInOwl:hasDbXref UMLS:C1824687 ; oboInOwl:hasExactSynonym "CDKN2AIP", "cdkn2a-interacting protein", "collaborator of arf", "cyclin-dependent kinase inhibitor 2a-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55602 ; - skos:exactMatch HGNC_symbol:CDKN2AIP ; + skos:exactMatch UMLS:C1824687, + HGNC:24325, + HGNC_symbol:CDKN2AIP ; biolink:category biolink:Gene . OMIM:615915 a owl:Class ; rdfs:label "ZPLD1" ; IAO:0000142 PMID:18632209 ; - oboInOwl:hasDbXref UMLS:C1824079 ; oboInOwl:hasExactSynonym "ZPLD1", "zona pellucida-like domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131368 ; - skos:exactMatch HGNC_symbol:ZPLD1 ; + skos:exactMatch UMLS:C1824079, + HGNC:27022, + HGNC_symbol:ZPLD1 ; biolink:category biolink:Gene . OMIM:615916 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1nn" ; IAO:0000142 PMID:24777450 ; - oboInOwl:hasDbXref UMLS:C4014656 ; oboInOwl:hasExactSynonym "CMD1NN", "cardiomyopathy, dilated, 1nn" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C4014656 ; biolink:category biolink:Disease . OMIM:615920 a owl:Class ; rdfs:label "PRR11" ; IAO:0000142 PMID:23246489, PMID:26162986 ; - oboInOwl:hasDbXref UMLS:C1826715 ; oboInOwl:hasExactSynonym "PRR11", "proline-rich protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55771 ; - skos:exactMatch HGNC_symbol:PRR11 ; + skos:exactMatch UMLS:C1826715, + HGNC:25619, + HGNC_symbol:PRR11 ; biolink:category biolink:Gene . OMIM:615921 a owl:Class ; rdfs:label "PERM1" ; IAO:0000142 PMID:23836911 ; - oboInOwl:hasDbXref UMLS:C1823785 ; oboInOwl:hasExactSynonym "PERM1", "chromosome 1 open reading frame 170", "pgc1- and err-induced regulator 1n muscle 1", "ppargc1- and esrr-induced regulator, muscle, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84808 ; - skos:exactMatch HGNC_symbol:PERM1 ; + skos:exactMatch UMLS:C1823785, + HGNC:28208, + HGNC_symbol:PERM1 ; biolink:category biolink:Gene . OMIM:615923 a owl:Class ; @@ -339479,43 +353739,45 @@ OMIM:615923 a owl:Class ; IAO:0000142 PMID:22870295, PMID:24057292, PMID:24259409 ; - oboInOwl:hasDbXref UMLS:C4014690 ; oboInOwl:hasExactSynonym "ECDM", "epiphyseal chondrodysplasia, miura iia" ; + skos:exactMatch UMLS:C4014690 ; biolink:category biolink:Disease . OMIM:615924 a owl:Class ; rdfs:label "encephalopathy, progressive, with or without lipodystrophy" ; IAO:0000142 PMID:23564749 ; - oboInOwl:hasDbXref UMLS:C4014700 ; oboInOwl:hasExactSynonym "PELD", "encephalopathy, progressive, with or without lipodystrophy" ; + skos:exactMatch UMLS:C4014700 ; biolink:category biolink:Disease . OMIM:615927 a owl:Class ; rdfs:label "RFLNA" ; IAO:0000142 PMID:24436304 ; - oboInOwl:hasDbXref UMLS:C1825224 ; oboInOwl:hasExactSynonym "RFLNA", "cfm2", "family with sequence similarity 101, member a", "refilin a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144347 ; - skos:exactMatch HGNC_symbol:RFLNA ; + skos:exactMatch UMLS:C1825224, + HGNC:27051, + HGNC_symbol:RFLNA ; biolink:category biolink:Gene . OMIM:615928 a owl:Class ; rdfs:label "RFLNB" ; IAO:0000142 PMID:24436304 ; - oboInOwl:hasDbXref UMLS:C1825225 ; oboInOwl:hasExactSynonym "RFLNB", "cfm1", "family with sequence similarity 101, member B", "refilin B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:359845 ; - skos:exactMatch HGNC_symbol:RFLNB ; + skos:exactMatch UMLS:C1825225, + HGNC:28705, + HGNC_symbol:RFLNB ; biolink:category biolink:Gene . OMIM:615929 a owl:Class ; @@ -339525,96 +353787,103 @@ OMIM:615929 a owl:Class ; PMID:23711367 ; RO:0002525 CHR:9606chr4q13.3 ; RO:0003303 OMIM:619504 ; - oboInOwl:hasDbXref UMLS:C1428138 ; oboInOwl:hasExactSynonym "ANKRD17", "ankyrin repeat domain-containing protein 17", "gtar" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26057 ; - skos:exactMatch HGNC_symbol:ANKRD17 ; + skos:exactMatch UMLS:C1428138, + HGNC:23575, + HGNC_symbol:ANKRD17 ; biolink:category biolink:Gene . OMIM:615930 a owl:Class ; rdfs:label "CAHM" ; IAO:0000142 PMID:24799664 ; - oboInOwl:hasDbXref UMLS:C3469775 ; oboInOwl:hasExactSynonym "CAHM", "colorectal adenocarcinoma hypermethylated gene, noncoding", "long intergenic noncoding RNA 468" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100526820 ; - skos:exactMatch HGNC_symbol:CAHM ; + skos:exactMatch UMLS:C3469775, + HGNC:42860, + HGNC_symbol:CAHM ; biolink:category biolink:Gene . OMIM:615931 a owl:Class ; rdfs:label "PRR16" ; IAO:0000142 PMID:24656129 ; - oboInOwl:hasDbXref UMLS:C1826720 ; oboInOwl:hasExactSynonym "PRR16", "largen", "proline-rich protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51334 ; - skos:exactMatch HGNC_symbol:PRR16 ; + skos:exactMatch UMLS:C1826720, + HGNC:29654, + HGNC_symbol:PRR16 ; biolink:category biolink:Gene . OMIM:615932 a owl:Class ; rdfs:label "KCTD20" ; IAO:0000142 PMID:24156551 ; - oboInOwl:hasDbXref UMLS:C1825646 ; oboInOwl:hasExactSynonym "KCTD20", "potassium channel tetramerization domain-containing protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222658 ; - skos:exactMatch HGNC_symbol:KCTD20 ; + skos:exactMatch UMLS:C1825646, + HGNC:21052, + HGNC_symbol:KCTD20 ; biolink:category biolink:Gene . OMIM:615933 a owl:Class ; rdfs:label "BTBD10" ; IAO:0000142 PMID:15556295, PMID:24156551 ; - oboInOwl:hasDbXref UMLS:C1823192 ; oboInOwl:hasExactSynonym "BTBD10", "btb/poz domain-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84280 ; - skos:exactMatch HGNC_symbol:BTBD10 ; + skos:exactMatch UMLS:C1823192, + HGNC:21445, + HGNC_symbol:BTBD10 ; biolink:category biolink:Gene . OMIM:615935 a owl:Class ; rdfs:label "pancreatic agenesis 2" ; IAO:0000142 PMID:24212882 ; - oboInOwl:hasDbXref UMLS:C4014737 ; oboInOwl:hasExactSynonym "PAGEN2", "pancreatic agenesis 2", "pancreatic hypoplasia, congenital 2" ; rdfs:subClassOf OMIMPS:260370 ; + skos:exactMatch UMLS:C4014737 ; biolink:category biolink:Disease . OMIM:615936 a owl:Class ; rdfs:label "ARHGAP42" ; IAO:0000142 PMID:24335996 ; - oboInOwl:hasDbXref UMLS:C2828634 ; oboInOwl:hasExactSynonym "ARHGAP42", "graf3", "rho gtpase-activating protein 42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143872 ; - skos:exactMatch HGNC_symbol:ARHGAP42 ; + skos:exactMatch UMLS:C2828634, + HGNC:26545, + HGNC_symbol:ARHGAP42 ; biolink:category biolink:Gene . OMIM:615939 a owl:Class ; rdfs:label "PTPLB" ; IAO:0000142 PMID:15024066, PMID:18554506 ; - oboInOwl:hasDbXref UMLS:C3892028 ; oboInOwl:hasExactSynonym "3-hydroxyacyl-coa dehydratase 2", "PTPLB", "protein tyrosine phosphatase-like (proline instead of catalytic arginine), member B", "very long chain-3-hydroxyacyl-coa dehydratase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201562 ; - skos:exactMatch HGNC_symbol:HACD2 ; + skos:exactMatch UMLS:C3892028, + HGNC:9640, + HGNC_symbol:HACD2 ; biolink:category biolink:Gene . OMIM:615940 a owl:Class ; @@ -339622,7 +353891,6 @@ OMIM:615940 a owl:Class ; IAO:0000142 PMID:10747961, PMID:16516406, PMID:18554506 ; - oboInOwl:hasDbXref UMLS:C1826735 ; oboInOwl:hasExactSynonym "3-hydroxyacyl-coa dehydratase 3", "PTPLAD1", "butyrate-induced protein 1", @@ -339630,21 +353898,24 @@ OMIM:615940 a owl:Class ; "very long chain-3-hydroxyacyl-coa dehydratase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51495 ; - skos:exactMatch HGNC_symbol:HACD3 ; + skos:exactMatch UMLS:C1826735, + HGNC:24175, + HGNC_symbol:HACD3 ; biolink:category biolink:Gene . OMIM:615941 a owl:Class ; rdfs:label "PTPLAD2" ; IAO:0000142 PMID:18554506, PMID:24530685 ; - oboInOwl:hasDbXref UMLS:C1826736 ; oboInOwl:hasExactSynonym "3-hydroxyacyl-coa dehydratase 4", "PTPLAD2", "protein tyrosine phosphatase-like a domain-containing protein 2", "very long chain-3-hydroxyacyl-coa dehydratase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401494 ; - skos:exactMatch HGNC_symbol:HACD4 ; + skos:exactMatch UMLS:C1826736, + HGNC:20920, + HGNC_symbol:HACD4 ; biolink:category biolink:Gene . OMIM:615943 a owl:Class ; @@ -339653,14 +353924,15 @@ OMIM:615943 a owl:Class ; PMID:10997877, PMID:15195140, PMID:15652357 ; - oboInOwl:hasDbXref UMLS:C1825939 ; oboInOwl:hasExactSynonym "MAGI3", "kiaa1634", "membrane-associated guanylate kinase with inverted structure 3", "membrane-associated guanylate kinase, ww and pdz domains-containing, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:260425 ; - skos:exactMatch HGNC_symbol:MAGI3 ; + skos:exactMatch UMLS:C1825939, + HGNC:29647, + HGNC_symbol:MAGI3 ; biolink:category biolink:Gene . OMIM:615944 a owl:Class ; @@ -339673,12 +353945,13 @@ OMIM:615944 a owl:Class ; PMID:30097616 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:615948 ; - oboInOwl:hasDbXref UMLS:C2240247 ; oboInOwl:hasExactSynonym "C2CD3", "c2 calcium-dependent domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26005 ; - skos:exactMatch HGNC_symbol:C2CD3 ; + skos:exactMatch UMLS:C2240247, + HGNC:24564, + HGNC_symbol:C2CD3 ; biolink:category biolink:Gene . OMIM:615949 a owl:Class ; @@ -339687,12 +353960,13 @@ OMIM:615949 a owl:Class ; PMID:26392740 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:615972 ; - oboInOwl:hasDbXref UMLS:C1823358 ; oboInOwl:hasExactSynonym "TMEM98", "transmembrane protein 98" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26022 ; - skos:exactMatch HGNC_symbol:TMEM98 ; + skos:exactMatch UMLS:C1823358, + HGNC:24529, + HGNC_symbol:TMEM98 ; biolink:category biolink:Gene . OMIM:615950 a owl:Class ; @@ -339706,12 +353980,6 @@ OMIM:615950 a owl:Class ; PMID:8663449 ; RO:0002525 CHR:9606chr2q35 ; RO:0003303 OMIM:615959 ; - oboInOwl:hasDbXref UMLS:C1823098, - UMLS:C4014788, - UMLS:C4017669, - UMLS:C4017670, - UMLS:C4017671, - UMLS:C4017672 ; oboInOwl:hasExactSynonym "SPEG", "aortic preferentially expressed protein 1", "brain preferentially expressed protein", @@ -339722,7 +353990,14 @@ OMIM:615950 a owl:Class ; "striated muscle preferentially expressed protein, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10290 ; - skos:exactMatch HGNC_symbol:SPEG ; + skos:exactMatch UMLS:C1823098, + UMLS:C4014788, + UMLS:C4017669, + UMLS:C4017670, + UMLS:C4017671, + UMLS:C4017672, + HGNC:16901, + HGNC_symbol:SPEG ; biolink:category biolink:Gene . OMIM:615951 a owl:Class ; @@ -339734,13 +354009,14 @@ OMIM:615951 a owl:Class ; PMID:29198722 ; RO:0002525 CHR:9606chr5q12.1 ; RO:0003303 OMIM:617865 ; - oboInOwl:hasDbXref UMLS:C1428833 ; oboInOwl:hasExactSynonym "ZSWIM6", "kiaa1577", "zinc finger swim domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57688 ; - skos:exactMatch HGNC_symbol:ZSWIM6 ; + skos:exactMatch UMLS:C1428833, + HGNC:29316, + HGNC_symbol:ZSWIM6 ; biolink:category biolink:Gene . OMIM:615952 a owl:Class ; @@ -339749,23 +354025,24 @@ OMIM:615952 a owl:Class ; PMID:25349174, PMID:25359994, PMID:30092289 ; - oboInOwl:hasDbXref UMLS:C4014795 ; oboInOwl:hasExactSynonym "ADMIO1", "autoimmune disease, multisystem, infantile-onset, 1" ; rdfs:subClassOf OMIMPS:615952 ; + skos:exactMatch UMLS:C4014795 ; biolink:category biolink:Disease . OMIM:615955 a owl:Class ; rdfs:label "CCDC183" ; IAO:0000142 PMID:11853319, PMID:24067530 ; - oboInOwl:hasDbXref UMLS:C1428683 ; oboInOwl:hasExactSynonym "CCDC183", "coiled-coil domain-containing protein 183", "kiaa1984" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84960 ; - skos:exactMatch HGNC_symbol:CCDC183 ; + skos:exactMatch UMLS:C1428683, + HGNC:28236, + HGNC_symbol:CCDC183 ; biolink:category biolink:Gene . OMIM:615956 a owl:Class ; @@ -339776,32 +354053,33 @@ OMIM:615956 a owl:Class ; PMID:31383820 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:616037 ; - oboInOwl:hasDbXref UMLS:C2681327 ; oboInOwl:hasExactSynonym "ODAD3", "coiled-coil domain-containing protein 151", "outer dynein arm docking complex subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115948 ; - skos:exactMatch HGNC_symbol:ODAD3 ; + skos:exactMatch UMLS:C2681327, + HGNC:28303, + HGNC_symbol:ODAD3 ; biolink:category biolink:Gene . OMIM:615958 a owl:Class ; rdfs:label "SLX4IP" ; IAO:0000142 PMID:19596235, PMID:24045615 ; - oboInOwl:hasDbXref UMLS:C1424101 ; oboInOwl:hasExactSynonym "SLX4IP", "chromosome 20 open reading frame 94", "slx4-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128710 ; - skos:exactMatch HGNC_symbol:SLX4IP ; + skos:exactMatch UMLS:C1424101, + HGNC:16225, + HGNC_symbol:SLX4IP ; biolink:category biolink:Gene . OMIM:615964 a owl:Class ; rdfs:label "MIR99AHG" ; IAO:0000142 PMID:25027842 ; - oboInOwl:hasDbXref UMLS:C3891002 ; oboInOwl:hasExactSynonym "MIR99AHG", "lincrna 478", "long intergenic noncoding RNA 478", @@ -339809,13 +354087,14 @@ OMIM:615964 a owl:Class ; "mir99a-let7c cluster host gene, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388815 ; - skos:exactMatch HGNC_symbol:MIR99AHG ; + skos:exactMatch UMLS:C3891002, + HGNC:1274, + HGNC_symbol:MIR99AHG ; biolink:category biolink:Gene . OMIM:615965 a owl:Class ; rdfs:label "MIR100HG" ; IAO:0000142 PMID:25027842 ; - oboInOwl:hasDbXref UMLS:C3147811 ; oboInOwl:hasExactSynonym "MIR100HG", "adipogenesis-downregulated transcript 1", "lncrna-n2", @@ -339823,32 +354102,36 @@ OMIM:615965 a owl:Class ; "mir100-let7a2 cluster host gene, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399959 ; - skos:exactMatch HGNC_symbol:MIR100HG ; + skos:exactMatch UMLS:C3147811, + HGNC:39522, + HGNC_symbol:MIR100HG ; biolink:category biolink:Gene . OMIM:615967 a owl:Class ; rdfs:label "CYP2W1" ; IAO:0000142 PMID:15128046, PMID:16426568 ; - oboInOwl:hasDbXref UMLS:C1539210 ; oboInOwl:hasExactSynonym "CYP2W1", "cytochrome p450, family 2, subfamily w, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54905 ; - skos:exactMatch HGNC_symbol:CYP2W1 ; + skos:exactMatch UMLS:C1539210, + HGNC:20243, + HGNC_symbol:CYP2W1 ; biolink:category biolink:Gene . OMIM:615968 a owl:Class ; rdfs:label "MYCNUT" ; IAO:0000142 PMID:24906397 ; - oboInOwl:hasDbXref UMLS:C3890831 ; oboInOwl:hasExactSynonym "MYCNUT", "lncusmycn", "long noncoding RNA upstream of mycn", "mycn upstream transcript, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:103752554 ; - skos:exactMatch HGNC_symbol:MYCNUT ; + skos:exactMatch UMLS:C3890831, + HGNC:32684, + HGNC_symbol:MYCNUT ; biolink:category biolink:Gene . OMIM:615969 a owl:Class ; @@ -339857,9 +354140,9 @@ OMIM:615969 a owl:Class ; PMID:1379776, PMID:15280901, PMID:18854864 ; - oboInOwl:hasDbXref UMLS:C1863081 ; oboInOwl:hasExactSynonym "AFPD", "alpha-fetoprotein deficiency" ; + skos:exactMatch UMLS:C1863081 ; biolink:category biolink:Disease . OMIM:615971 a owl:Class ; @@ -339868,39 +354151,42 @@ OMIM:615971 a owl:Class ; OMIM:615975 a owl:Class ; rdfs:label "TMEM129" ; IAO:0000142 PMID:25030448 ; - oboInOwl:hasDbXref UMLS:C1823388 ; oboInOwl:hasExactSynonym "TMEM129", "transmembrane protein 129" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92305 ; - skos:exactMatch HGNC_symbol:TMEM129 ; + skos:exactMatch UMLS:C1823388, + HGNC:25137, + HGNC_symbol:TMEM129 ; biolink:category biolink:Gene . OMIM:615976 a owl:Class ; rdfs:label "FOXCUT" ; IAO:0000142 PMID:25031703 ; - oboInOwl:hasDbXref UMLS:C3889231 ; oboInOwl:hasExactSynonym "FOXCUT", "foxc1 upstream transcript, noncoding", "long intergenic noncoding RNA 1379", "tcons_00011636" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101927703 ; - skos:exactMatch HGNC_symbol:FOXCUT ; + skos:exactMatch UMLS:C3889231, + HGNC:50650, + HGNC_symbol:FOXCUT ; biolink:category biolink:Gene . OMIM:615977 a owl:Class ; rdfs:label "MIR339" ; IAO:0000142 PMID:19520829, PMID:24352696 ; - oboInOwl:hasDbXref UMLS:C1537882 ; oboInOwl:hasExactSynonym "MIR339", "micro RNA 339", "mir339-5p", "mirna339" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442907 ; - skos:exactMatch HGNC_symbol:MIR339 ; + skos:exactMatch UMLS:C1537882, + HGNC:31776, + HGNC_symbol:MIR339 ; biolink:category biolink:Gene . OMIM:615978 a owl:Class ; @@ -339911,13 +354197,13 @@ OMIM:615978 a owl:Class ; PMID:15589309, PMID:19084105, PMID:28902581 ; - oboInOwl:hasDbXref UMLS:C4014863, - ORPHA:319581 ; oboInOwl:hasExactSynonym "IMD27B", "ifngr1 deficiency, autosomal dominant", "immunodeficiency 27b", "immunodeficiency 27b, mycobacteriosis, autosomal dominant" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4014863, + ORPHA:319581 ; biolink:category biolink:Disease . OMIM:615981 a owl:Class ; @@ -339932,39 +354218,39 @@ OMIM:615981 a owl:Class ; PMID:8298649, PMID:8588586, PMID:9039982 ; - oboInOwl:hasDbXref UMLS:C2936863 ; oboInOwl:hasExactSynonym "BBS2", "bardet-biedl syndrome 2" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C2936863 ; biolink:category biolink:Disease . OMIM:615988 a owl:Class ; rdfs:label "bardet-biedl syndrome 11" ; IAO:0000142 PMID:16606853 ; - oboInOwl:hasDbXref UMLS:C1859569 ; oboInOwl:hasExactSynonym "BBS11", "bardet-biedl syndrome 11" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C1859569 ; biolink:category biolink:Disease . OMIM:615990 a owl:Class ; rdfs:label "bardet-biedl syndrome 13" ; IAO:0000142 PMID:18327255, PMID:24608809 ; - oboInOwl:hasDbXref UMLS:C2673873, - ORPHA:110 ; oboInOwl:hasExactSynonym "BBS13", "bardet-biedl syndrome 13" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C2673873, + ORPHA:110 ; biolink:category biolink:Disease . OMIM:615992 a owl:Class ; rdfs:label "bardet-biedl syndrome 15" ; IAO:0000142 PMID:20671153 ; - oboInOwl:hasDbXref UMLS:C3150127 ; oboInOwl:hasExactSynonym "BBS15", "bardet-biedl syndrome 15" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C3150127 ; biolink:category biolink:Disease . OMIM:615993 a owl:Class ; @@ -339972,19 +354258,16 @@ OMIM:615993 a owl:Class ; IAO:0000142 PMID:20835237, PMID:22190896, PMID:22626039 ; - oboInOwl:hasDbXref UMLS:C3889474 ; oboInOwl:hasExactSynonym "BBS16", "bardet-biedl syndrome 16" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C3889474 ; biolink:category biolink:Disease . OMIM:615997 a owl:Class ; rdfs:label "DEFB119" ; IAO:0000142 PMID:11854508, PMID:15772680 ; - oboInOwl:hasDbXref UMLS:C1425307, - UMLS:C4014916, - UMLS:C4014917 ; oboInOwl:hasExactSynonym "DEFB119", "defensin, beta, 119", "defensin, beta, 120", @@ -339992,7 +354275,11 @@ OMIM:615997 a owl:Class ; "defensin, beta, 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245932 ; - skos:exactMatch HGNC_symbol:DEFB119 ; + skos:exactMatch UMLS:C1425307, + UMLS:C4014916, + UMLS:C4014917, + HGNC:18099, + HGNC_symbol:DEFB119 ; biolink:category biolink:Gene . OMIM:615998 a owl:Class ; @@ -340001,13 +354288,14 @@ OMIM:615998 a owl:Class ; PMID:16335786, PMID:18941509, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1419414 ; oboInOwl:hasExactSynonym "RNF10", "kiaa0262", "ring finger protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9921 ; - skos:exactMatch HGNC_symbol:RNF10 ; + skos:exactMatch UMLS:C1419414, + HGNC:10055, + HGNC_symbol:RNF10 ; biolink:category biolink:Gene . OMIM:616000 a owl:Class ; @@ -340029,19 +354317,19 @@ OMIM:616000 a owl:Class ; PMID:7937781, PMID:8621984, PMID:9799768 ; - oboInOwl:hasDbXref UMLS:C0878666 ; oboInOwl:hasExactSynonym "ANALBA", "analbuminemia" ; + skos:exactMatch UMLS:C0878666 ; biolink:category biolink:Disease . OMIM:616002 a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 7" ; IAO:0000142 PMID:24676634 ; - oboInOwl:hasDbXref UMLS:C4014925 ; oboInOwl:hasExactSynonym "FSGS7", "focal segmental glomerulosclerosis 7", "glomerulosclerosis, focal segmental, 7" ; rdfs:subClassOf OMIMPS:603278 ; + skos:exactMatch UMLS:C4014925 ; biolink:category biolink:Disease . OMIM:616003 a owl:Class ; @@ -340051,14 +354339,15 @@ OMIM:616003 a owl:Class ; PMID:25175347 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:619061 ; - oboInOwl:hasDbXref UMLS:C3471496, - UMLS:C5436718 ; oboInOwl:hasExactSynonym "APOPT1", "apoptogenic protein", "apoptogenic protein 1, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84334 ; - skos:exactMatch HGNC_symbol:COA8 ; + skos:exactMatch UMLS:C3471496, + UMLS:C5436718, + HGNC:20492, + HGNC_symbol:COA8 ; biolink:category biolink:Gene . OMIM:616005 a owl:Class ; @@ -340068,10 +354357,10 @@ OMIM:616005 a owl:Class ; PMID:25939554, PMID:27076228, PMID:27221134 ; - oboInOwl:hasDbXref UMLS:C4014934 ; oboInOwl:hasExactSynonym "IMD36", "immunodeficiency 36" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4014934 ; biolink:category biolink:Disease . OMIM:616006 a owl:Class ; @@ -340079,10 +354368,10 @@ OMIM:616006 a owl:Class ; IAO:0000142 PMID:14564208, PMID:24913602, PMID:2624276 ; - oboInOwl:hasDbXref UMLS:C4014939 ; oboInOwl:hasExactSynonym "HKLLS2", "hennekam lymphangiectasia-lymphedema syndrome 2" ; rdfs:subClassOf OMIMPS:235510 ; + skos:exactMatch UMLS:C4014939 ; biolink:category biolink:Disease . OMIM:616008 a owl:Class ; @@ -340090,50 +354379,54 @@ OMIM:616008 a owl:Class ; IAO:0000142 PMID:16036220, PMID:25043011, PMID:9707402 ; - oboInOwl:hasDbXref UMLS:C1424491 ; oboInOwl:hasExactSynonym "COPS4", "cop9 signalosome, subunit 4", "csn4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51138 ; - skos:exactMatch HGNC_symbol:COPS4 ; + skos:exactMatch UMLS:C1424491, + HGNC:16702, + HGNC_symbol:COPS4 ; biolink:category biolink:Gene . OMIM:616009 a owl:Class ; rdfs:label "COPS7A" ; IAO:0000142 PMID:12020345, PMID:9707402 ; - oboInOwl:hasDbXref UMLS:C1424522 ; oboInOwl:hasExactSynonym "COPS7A", "cop9 signalosome, subunit 7a", "csn7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50813 ; - skos:exactMatch HGNC_symbol:COPS7A ; + skos:exactMatch UMLS:C1424522, + HGNC:16758, + HGNC_symbol:COPS7A ; biolink:category biolink:Gene . OMIM:616010 a owl:Class ; rdfs:label "COPS7B" ; IAO:0000142 PMID:9707402 ; - oboInOwl:hasDbXref UMLS:C1424524 ; oboInOwl:hasExactSynonym "COPS7B", "cop9 signalosome, subunit 7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64708 ; - skos:exactMatch HGNC_symbol:COPS7B ; + skos:exactMatch UMLS:C1424524, + HGNC:16760, + HGNC_symbol:COPS7B ; biolink:category biolink:Gene . OMIM:616011 a owl:Class ; rdfs:label "COPS8" ; IAO:0000142 PMID:14636993, PMID:9707402 ; - oboInOwl:hasDbXref UMLS:C1428371 ; oboInOwl:hasExactSynonym "COPS8", "cop9 signalosome, subunit 8", "csn8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10920 ; - skos:exactMatch HGNC_symbol:COPS8 ; + skos:exactMatch UMLS:C1428371, + HGNC:24335, + HGNC_symbol:COPS8 ; biolink:category biolink:Gene . OMIM:616012 a owl:Class ; @@ -340142,13 +354435,14 @@ OMIM:616012 a owl:Class ; PMID:25129145 ; RO:0002525 CHR:9606chr3p25.3 ; RO:0003303 OMIM:616022 ; - oboInOwl:hasDbXref UMLS:C1537430 ; oboInOwl:hasExactSynonym "JAGN1", "jagunal homolog 1", "jagunal, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84522 ; - skos:exactMatch HGNC_symbol:JAGN1 ; + skos:exactMatch UMLS:C1537430, + HGNC:26926, + HGNC_symbol:JAGN1 ; biolink:category biolink:Gene . OMIM:616013 a owl:Class ; @@ -340157,53 +354451,57 @@ OMIM:616013 a owl:Class ; PMID:25053765 ; RO:0002525 CHR:9606chr4q23 ; RO:0003303 OMIM:616033 ; - oboInOwl:hasDbXref UMLS:C1428703 ; oboInOwl:hasExactSynonym "RNA (guanine-9-)methyltransferase domain-containing protein 2", "TRMT10A", "trna methyltransferase 10, s. cerevisiae, homolog of, a", "trna methyltransferase 10a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93587 ; - skos:exactMatch HGNC_symbol:TRMT10A ; + skos:exactMatch UMLS:C1428703, + HGNC:28403, + HGNC_symbol:TRMT10A ; biolink:category biolink:Gene . OMIM:616014 a owl:Class ; rdfs:label "RNF25" ; IAO:0000142 PMID:10500182, PMID:12748188 ; - oboInOwl:hasDbXref UMLS:C1422821 ; oboInOwl:hasExactSynonym "RNF25", "ring finger protein 25", "ring finger protein ao7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64320 ; - skos:exactMatch HGNC_symbol:RNF25 ; + skos:exactMatch UMLS:C1422821, + HGNC:14662, + HGNC_symbol:RNF25 ; biolink:category biolink:Gene . OMIM:616015 a owl:Class ; rdfs:label "RNF180" ; IAO:0000142 PMID:18363970, PMID:21717426 ; - oboInOwl:hasDbXref UMLS:C1538869 ; oboInOwl:hasExactSynonym "RNF180", "ring finger protein 180", "ring finger protein 1n neural stem cells" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285671 ; - skos:exactMatch HGNC_symbol:RNF180 ; + skos:exactMatch UMLS:C1538869, + HGNC:27752, + HGNC_symbol:RNF180 ; biolink:category biolink:Gene . OMIM:616016 a owl:Class ; rdfs:label "PPM1H" ; IAO:0000142 PMID:10574461, PMID:22586611 ; - oboInOwl:hasDbXref UMLS:C1425621 ; oboInOwl:hasExactSynonym "PPM1H", "kiaa1157", "protein phosphatase, magnesium/manganese-dependent, 1h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57460 ; - skos:exactMatch HGNC_symbol:PPM1H ; + skos:exactMatch UMLS:C1425621, + HGNC:18583, + HGNC_symbol:PPM1H ; biolink:category biolink:Gene . OMIM:616017 a owl:Class ; @@ -340211,14 +354509,15 @@ OMIM:616017 a owl:Class ; IAO:0000142 PMID:11578878, PMID:12837286, PMID:23131556 ; - oboInOwl:hasDbXref UMLS:C1823491 ; oboInOwl:hasExactSynonym "TRIM69", "ring finger protein 36", "testis-specific ring finger protein", "tripartite motif-containing protein 69" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140691 ; - skos:exactMatch HGNC_symbol:TRIM69 ; + skos:exactMatch UMLS:C1823491, + HGNC:17857, + HGNC_symbol:TRIM69 ; biolink:category biolink:Gene . OMIM:616018 a owl:Class ; @@ -340228,35 +354527,38 @@ OMIM:616019 a owl:Class ; rdfs:label "RCOR2" ; IAO:0000142 PMID:11578870, PMID:21433225 ; - oboInOwl:hasDbXref UMLS:C1538821 ; oboInOwl:hasExactSynonym "RCOR2", "rest corepressor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283248 ; - skos:exactMatch HGNC_symbol:RCOR2 ; + skos:exactMatch UMLS:C1538821, + HGNC:27455, + HGNC_symbol:RCOR2 ; biolink:category biolink:Gene . OMIM:616020 a owl:Class ; rdfs:label "CYYR1" ; IAO:0000142 PMID:12062809, PMID:24981926 ; - oboInOwl:hasDbXref UMLS:C1424144 ; oboInOwl:hasExactSynonym "CYYR1", "cysteine/tyrosine-rich protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116159 ; - skos:exactMatch HGNC_symbol:CYYR1 ; + skos:exactMatch UMLS:C1424144, + HGNC:16274, + HGNC_symbol:CYYR1 ; biolink:category biolink:Gene . OMIM:616021 a owl:Class ; rdfs:label "CYYR1AS1" ; IAO:0000142 PMID:24981926 ; - oboInOwl:hasDbXref UMLS:C3889797 ; oboInOwl:hasExactSynonym "CYYR1AS1", "cyyr1 antisense RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100996571 ; - skos:exactMatch HGNC_symbol:CYYR1-AS1 ; + skos:exactMatch UMLS:C3889797, + HGNC:39560, + HGNC_symbol:CYYR1-AS1 ; biolink:category biolink:Gene . OMIM:616023 a owl:Class ; @@ -340264,8 +354566,6 @@ OMIM:616023 a owl:Class ; IAO:0000142 PMID:10574461, PMID:18550522, PMID:32730804 ; - oboInOwl:hasDbXref UMLS:C1426151, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "SCAF4", "kiaa1172", "pre-mrna splicing sr protein ra4", @@ -340273,14 +354573,16 @@ OMIM:616023 a owl:Class ; "sr-related ctd-associated factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57466 ; - skos:exactMatch HGNC_symbol:SCAF4 ; + skos:exactMatch UMLS:C1426151, + UMLS:C2986382, + HGNC:19304, + HGNC_symbol:SCAF4 ; biolink:category biolink:Gene . OMIM:616024 a owl:Class ; rdfs:label "SCAF8" ; IAO:0000142 PMID:10470851, PMID:18550522 ; - oboInOwl:hasDbXref UMLS:C1427210 ; oboInOwl:hasExactSynonym "SCAF8", "kiaa1116", "pre-mrna-splicing sr protein ra8", @@ -340288,18 +354590,20 @@ OMIM:616024 a owl:Class ; "sr-related ctd-associated factor 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22828 ; - skos:exactMatch HGNC_symbol:SCAF8 ; + skos:exactMatch UMLS:C1427210, + HGNC:20959, + HGNC_symbol:SCAF8 ; biolink:category biolink:Gene . OMIM:616026 a owl:Class ; rdfs:label "fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" ; IAO:0000142 PMID:22802087, PMID:24285859 ; - oboInOwl:hasDbXref UMLS:C4014962 ; oboInOwl:hasExactSynonym "FRTS4", "fanconi renotubular syndrome 4 with maturity-onset diabetes of the young", "frts4 with mody" ; rdfs:subClassOf OMIMPS:134600 ; + skos:exactMatch UMLS:C4014962 ; biolink:category biolink:Disease . OMIM:616027 a owl:Class ; @@ -340308,12 +354612,13 @@ OMIM:616027 a owl:Class ; PMID:24676636 ; RO:0002525 CHR:9606chr7p14.2 ; RO:0003303 OMIM:616032 ; - oboInOwl:hasDbXref UMLS:C1422396 ; oboInOwl:hasExactSynonym "ANLN", "actin-binding protein anillin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54443 ; - skos:exactMatch HGNC_symbol:ANLN ; + skos:exactMatch UMLS:C1422396, + HGNC:14082, + HGNC_symbol:ANLN ; biolink:category biolink:Gene . OMIM:616028 a owl:Class ; @@ -340323,10 +354628,10 @@ OMIM:616028 a owl:Class ; PMID:22307742, PMID:25132448, PMID:25963545 ; - oboInOwl:hasDbXref UMLS:C4014970 ; oboInOwl:hasExactSynonym "AOS5", "adams-oliver syndrome 5" ; rdfs:subClassOf OMIMPS:100300 ; + skos:exactMatch UMLS:C4014970 ; biolink:category biolink:Disease . OMIM:616031 a owl:Class ; @@ -340335,26 +354640,28 @@ OMIM:616031 a owl:Class ; PMID:25192046, PMID:27014940, PMID:28324054 ; - oboInOwl:hasDbXref UMLS:C2240346 ; oboInOwl:hasExactSynonym "CCDC141", "coiled-coil domain-containing protein 141", "coiled-coil protein associated with myosin 2 and disc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285025 ; - skos:exactMatch HGNC_symbol:CCDC141 ; + skos:exactMatch UMLS:C2240346, + HGNC:26821, + HGNC_symbol:CCDC141 ; biolink:category biolink:Gene . OMIM:616035 a owl:Class ; rdfs:label "FOXJ3" ; IAO:0000142 PMID:10470851, PMID:23047984 ; - oboInOwl:hasDbXref UMLS:C1428808 ; oboInOwl:hasExactSynonym "FOXJ3", "forkhead box j3", "kiaa1041" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22887 ; - skos:exactMatch HGNC_symbol:FOXJ3 ; + skos:exactMatch UMLS:C1428808, + HGNC:29178, + HGNC_symbol:FOXJ3 ; biolink:category biolink:Gene . OMIM:616036 a owl:Class ; @@ -340362,13 +354669,14 @@ OMIM:616036 a owl:Class ; IAO:0000142 PMID:21859890, PMID:23047984, PMID:24760768 ; - oboInOwl:hasDbXref UMLS:C1826048 ; oboInOwl:hasExactSynonym "MIR494", "micro RNA 494", "mirna494" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574452 ; - skos:exactMatch HGNC_symbol:MIR494 ; + skos:exactMatch UMLS:C1826048, + HGNC:32084, + HGNC_symbol:MIR494 ; biolink:category biolink:Gene . OMIM:616040 a owl:Class ; @@ -340376,54 +354684,56 @@ OMIM:616040 a owl:Class ; IAO:0000142 PMID:25192047, PMID:25792100, PMID:26519543 ; - oboInOwl:hasDbXref UMLS:C4015038 ; oboInOwl:hasExactSynonym "CMS7A", "myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4015038 ; biolink:category biolink:Disease . OMIM:616041 a owl:Class ; rdfs:label "TSTD1" ; IAO:0000142 PMID:12817473, PMID:24981631 ; - oboInOwl:hasDbXref UMLS:C2828981 ; oboInOwl:hasExactSynonym "TSTD1", "kat", "thiosulfate sulfurtransferase (rhodanese)-like domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100131187 ; - skos:exactMatch HGNC_symbol:TSTD1 ; + skos:exactMatch UMLS:C2828981, + HGNC:35410, + HGNC_symbol:TSTD1 ; biolink:category biolink:Gene . OMIM:616043 a owl:Class ; rdfs:label "PCAT1" ; IAO:0000142 PMID:23640607 ; - oboInOwl:hasDbXref UMLS:C3471356 ; oboInOwl:hasExactSynonym "PCAT1", "prostate cancer-associated transcript 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100750225 ; - skos:exactMatch HGNC_symbol:PCAT1 ; + skos:exactMatch UMLS:C3471356, + HGNC:43022, + HGNC_symbol:PCAT1 ; biolink:category biolink:Gene . OMIM:616044 a owl:Class ; rdfs:label "deafness, autosomal dominant 65" ; IAO:0000142 PMID:24729539, PMID:24729547 ; - oboInOwl:hasDbXref UMLS:C3892048 ; oboInOwl:hasExactSynonym "DFNA65", "deafness, autosomal dominant 65" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C3892048 ; biolink:category biolink:Disease . OMIM:616045 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 22" ; IAO:0000142 PMID:23596069 ; - oboInOwl:hasDbXref UMLS:C4015062, - ORPHA:254913 ; oboInOwl:hasExactSynonym "COXPD22", "combined oxidative phosphorylation deficiency 22" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4015062, + ORPHA:254913 ; biolink:category biolink:Disease . OMIM:616046 a owl:Class ; @@ -340434,40 +354744,43 @@ OMIM:616046 a owl:Class ; PMID:4403064, PMID:9804817, PMID:9804836 ; - oboInOwl:hasDbXref UMLS:C1419052 ; oboInOwl:hasExactSynonym "PSTPIP2", "macrophage actin-associated tyrosine-phosphorylated protein", "proline/serine/threonine phosphatase-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9050 ; - skos:exactMatch HGNC_symbol:PSTPIP2 ; + skos:exactMatch UMLS:C1419052, + HGNC:9581, + HGNC_symbol:PSTPIP2 ; biolink:category biolink:Gene . OMIM:616047 a owl:Class ; rdfs:label "CFAP97" ; IAO:0000142 PMID:10718198, PMID:24554765 ; - oboInOwl:hasDbXref UMLS:C1537471 ; oboInOwl:hasExactSynonym "CFAP97", "cilia- and flagella-associated protein 97", "hemingway, drosophila, homolog of", "kiaa1430" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57587 ; - skos:exactMatch HGNC_symbol:CFAP97 ; + skos:exactMatch UMLS:C1537471, + HGNC:29276, + HGNC_symbol:CFAP97 ; biolink:category biolink:Gene . OMIM:616048 a owl:Class ; rdfs:label "APTR" ; IAO:0000142 PMID:24748121 ; - oboInOwl:hasDbXref UMLS:C3816838 ; oboInOwl:hasExactSynonym "APTR", "alu-mediated cdkn1a/p21 transcriptional regulator, noncoding", "lncrna aptr", "long noncoding RNA aptr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100505854 ; - skos:exactMatch HGNC_symbol:APTR ; + skos:exactMatch UMLS:C3816838, + HGNC:44173, + HGNC_symbol:APTR ; biolink:category biolink:Gene . OMIM:616049 a owl:Class ; @@ -340475,23 +354788,24 @@ OMIM:616049 a owl:Class ; IAO:0000142 PMID:11913975, PMID:22178133, PMID:9324309 ; - oboInOwl:hasDbXref UMLS:C1423699 ; oboInOwl:hasExactSynonym "TOMM34", "tom34", "translocase of outer mitochondrial membrane 34", "translocase of outer mitochondrial membrane 34, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10953 ; - skos:exactMatch HGNC_symbol:TOMM34 ; + skos:exactMatch UMLS:C1423699, + HGNC:15746, + HGNC_symbol:TOMM34 ; biolink:category biolink:Gene . OMIM:616053 a owl:Class ; rdfs:label "spinocerebellar ataxia 40" ; IAO:0000142 PMID:25062847 ; - oboInOwl:hasDbXref UMLS:C4518336 ; oboInOwl:hasExactSynonym "SCA40", "spinocerebellar ataxia 40" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C4518336 ; biolink:category biolink:Disease . OMIM:616054 a owl:Class ; @@ -340501,19 +354815,19 @@ OMIM:616054 a owl:Class ; PMID:25847581 ; RO:0002525 CHR:9606chr18q12.2 ; RO:0003303 OMIM:617270 ; - oboInOwl:hasDbXref UMLS:C1425394 ; oboInOwl:hasExactSynonym "ELP2", "elongator acetyltransferase complex, subunit 2", "stat-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55250 ; - skos:exactMatch HGNC_symbol:ELP2 ; + skos:exactMatch UMLS:C1425394, + HGNC:18248, + HGNC_symbol:ELP2 ; biolink:category biolink:Gene . OMIM:616057 a owl:Class ; rdfs:label "TUSC7" ; IAO:0000142 PMID:23558749 ; - oboInOwl:hasDbXref UMLS:C3814602 ; oboInOwl:hasExactSynonym "TUSC7", "lncrna loc285194", "long noncoding RNA loc285194", @@ -340521,31 +354835,35 @@ OMIM:616057 a owl:Class ; "tumor suppressor candidate 7, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285194 ; - skos:exactMatch HGNC_symbol:TUSC7 ; + skos:exactMatch UMLS:C3814602, + HGNC:27701, + HGNC_symbol:TUSC7 ; biolink:category biolink:Gene . OMIM:616058 a owl:Class ; rdfs:label "TARID" ; IAO:0000142 PMID:25087872 ; - oboInOwl:hasDbXref UMLS:C3889185 ; oboInOwl:hasExactSynonym "TARID", "tcf21 antisense RNA inducing promoter demethylation" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507308 ; - skos:exactMatch HGNC_symbol:TARID ; + skos:exactMatch UMLS:C3889185, + HGNC:50506, + HGNC_symbol:TARID ; biolink:category biolink:Gene . OMIM:616061 a owl:Class ; rdfs:label "MGA" ; IAO:0000142 PMID:10601024, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1422345 ; oboInOwl:hasExactSynonym "MGA", "kiaa0518", "max dimerization protein mga" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23269 ; - skos:exactMatch HGNC_symbol:MGA ; + skos:exactMatch UMLS:C1422345, + HGNC:14010, + HGNC_symbol:MGA ; biolink:category biolink:Gene . OMIM:616062 a owl:Class ; @@ -340557,28 +354875,30 @@ OMIM:616062 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chr12q24.33 ; RO:0003303 OMIM:616681 ; - oboInOwl:hasDbXref UMLS:C2678596, - UMLS:C4225249 ; oboInOwl:hasExactSynonym "ANKLE2", "ankyrin repeat- and lem domain-containing protein 2", "kiaa0692", "lem domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23141 ; - skos:exactMatch HGNC_symbol:ANKLE2 ; + skos:exactMatch UMLS:C2678596, + UMLS:C4225249, + HGNC:29101, + HGNC_symbol:ANKLE2 ; biolink:category biolink:Gene . OMIM:616064 a owl:Class ; rdfs:label "TINAGL1" ; IAO:0000142 PMID:11170462 ; - oboInOwl:hasDbXref UMLS:C1823280 ; oboInOwl:hasExactSynonym "TINAGL1", "tinag-like protein 1", "tinag-related protein", "tubulointerstitial nephritis antigen-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64129 ; - skos:exactMatch HGNC_symbol:TINAGL1 ; + skos:exactMatch UMLS:C1823280, + HGNC:19168, + HGNC_symbol:TINAGL1 ; biolink:category biolink:Gene . OMIM:616065 a owl:Class ; @@ -340587,14 +354907,15 @@ OMIM:616065 a owl:Class ; PMID:21241660, PMID:23558288, PMID:31511635 ; - oboInOwl:hasDbXref UMLS:C1824374 ; oboInOwl:hasExactSynonym "PIANP", "liver endothelial differentiation-associated protein, 1", "pilr-alpha-associated neural protein", "pilra-associated neural protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196500 ; - skos:exactMatch HGNC_symbol:PIANP ; + skos:exactMatch UMLS:C1824374, + HGNC:25338, + HGNC_symbol:PIANP ; biolink:category biolink:Gene . OMIM:616066 a owl:Class ; @@ -340605,91 +354926,97 @@ OMIM:616066 a owl:Class ; PMID:22056784, PMID:24524832, PMID:28504655 ; - oboInOwl:hasDbXref UMLS:C1823078 ; oboInOwl:hasExactSynonym "SOHLH2", "spermatogenesis- and oogenesis-specific basic helix-loop-helix protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54937 ; - skos:exactMatch HGNC_symbol:SOHLH2 ; + skos:exactMatch UMLS:C1823078, + HGNC:26026, + HGNC_symbol:SOHLH2 ; biolink:category biolink:Gene . OMIM:616067 a owl:Class ; rdfs:label "46,xy sex reversal 9" ; IAO:0000142 PMID:24549039 ; - oboInOwl:hasDbXref UMLS:C4015129 ; oboInOwl:hasExactSynonym "46,xy sex reversal 9", "46,xy sex reversal, zfpm2-related", "SRXY9" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C4015129 ; biolink:category biolink:Disease . OMIM:616068 a owl:Class ; rdfs:label "HOXAAS2" ; IAO:0000142 PMID:23649634 ; - oboInOwl:hasDbXref UMLS:C3470476 ; oboInOwl:hasExactSynonym "HOXAAS2", "hoxa cluster antisense RNA 2, noncoding", "lincrna hoxaas2", "long intergenic noncoding RNA hoxaas2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285943 ; - skos:exactMatch HGNC_symbol:HOXA-AS2 ; + skos:exactMatch UMLS:C3470476, + HGNC:43745, + HGNC_symbol:HOXA-AS2 ; biolink:category biolink:Gene . OMIM:616069 a owl:Class ; rdfs:label "inflammatory skin and bowel disease, neonatal, 2" ; IAO:0000142 PMID:24691054 ; - oboInOwl:hasDbXref UMLS:C4015130, - ORPHA:294023 ; oboInOwl:hasExactSynonym "NISBD2", "inflammatory skin and bowel disease, neonatal, 2" ; rdfs:subClassOf OMIMPS:614328 ; + skos:exactMatch UMLS:C4015130, + ORPHA:294023 ; biolink:category biolink:Disease . OMIM:616070 a owl:Class ; rdfs:label "CCDC113" ; IAO:0000142 PMID:25074808 ; - oboInOwl:hasDbXref UMLS:C1824642 ; oboInOwl:hasExactSynonym "CCDC113", "coiled-coil domain-containing protein 113" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29070 ; - skos:exactMatch HGNC_symbol:CCDC113 ; + skos:exactMatch UMLS:C1824642, + HGNC:25002, + HGNC_symbol:CCDC113 ; biolink:category biolink:Gene . OMIM:616071 a owl:Class ; rdfs:label "C7ORF31" ; IAO:0000142 PMID:25074808 ; - oboInOwl:hasDbXref UMLS:C1427719 ; oboInOwl:hasExactSynonym "C7ORF31", "chromosome 7 open reading frame 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136895 ; - skos:exactMatch HGNC_symbol:C7orf31 ; + skos:exactMatch UMLS:C1427719, + HGNC:21722, + HGNC_symbol:C7orf31 ; biolink:category biolink:Gene . OMIM:616072 a owl:Class ; rdfs:label "HP1BP3" ; IAO:0000142 PMID:20042602, PMID:24830416 ; - oboInOwl:hasDbXref UMLS:C1825523 ; oboInOwl:hasExactSynonym "HP1BP3", "heterochromatin protein 1-binding protein 3", "hp1-binding protein 74" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50809 ; - skos:exactMatch HGNC_symbol:HP1BP3 ; + skos:exactMatch UMLS:C1825523, + HGNC:24973, + HGNC_symbol:HP1BP3 ; biolink:category biolink:Gene . OMIM:616073 a owl:Class ; rdfs:label "DEPDC1B" ; IAO:0000142 PMID:24971537 ; - oboInOwl:hasDbXref UMLS:C1539267 ; oboInOwl:hasExactSynonym "DEPDC1B", "dep domain-containing protein 1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55789 ; - skos:exactMatch HGNC_symbol:DEPDC1B ; + skos:exactMatch UMLS:C1539267, + HGNC:24902, + HGNC_symbol:DEPDC1B ; biolink:category biolink:Gene . OMIM:616074 a owl:Class ; @@ -340697,46 +355024,48 @@ OMIM:616074 a owl:Class ; IAO:0000142 PMID:11042152, PMID:11415443, PMID:14672709 ; - oboInOwl:hasDbXref UMLS:C1421906 ; oboInOwl:hasExactSynonym "CKLF", "chemokine-like factor", "hspc224" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51192 ; - skos:exactMatch HGNC_symbol:CKLF ; + skos:exactMatch UMLS:C1421906, + HGNC:13253, + HGNC_symbol:CKLF ; biolink:category biolink:Gene . OMIM:616075 a owl:Class ; rdfs:label "DEFB121" ; IAO:0000142 PMID:11854508, PMID:15772680 ; - oboInOwl:hasDbXref UMLS:C1425308 ; oboInOwl:hasExactSynonym "DEFB121", "defensin, beta, 121", "defensin, beta, 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245934 ; - skos:exactMatch HGNC_symbol:DEFB121 ; + skos:exactMatch UMLS:C1425308, + HGNC:18101, + HGNC_symbol:DEFB121 ; biolink:category biolink:Gene . OMIM:616076 a owl:Class ; rdfs:label "DEFB123" ; IAO:0000142 PMID:11854508, PMID:15772680 ; - oboInOwl:hasDbXref UMLS:C1425310 ; oboInOwl:hasExactSynonym "DEFB123", "defensin, beta, 123", "defensin, beta, 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245936 ; - skos:exactMatch HGNC_symbol:DEFB123 ; + skos:exactMatch UMLS:C1425310, + HGNC:18103, + HGNC_symbol:DEFB123 ; biolink:category biolink:Gene . OMIM:616077 a owl:Class ; rdfs:label "DEFB122" ; IAO:0000142 PMID:11854508, PMID:15772680 ; - oboInOwl:hasDbXref UMLS:C1425309 ; oboInOwl:hasExactSynonym "DEFB122", "defb122p", "defb22p", @@ -340744,7 +355073,9 @@ OMIM:616077 a owl:Class ; "defensin, beta, 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245935 ; - skos:exactMatch HGNC_symbol:DEFB122 ; + skos:exactMatch UMLS:C1425309, + HGNC:18102, + HGNC_symbol:DEFB122 ; biolink:category biolink:Gene . OMIM:616078 a owl:Class ; @@ -340753,19 +355084,19 @@ OMIM:616078 a owl:Class ; PMID:22333924, PMID:23020937, PMID:25217958 ; - oboInOwl:hasDbXref UMLS:C4015141 ; oboInOwl:hasExactSynonym "MRD29", "intellectual developmental disorder, autosomal dominant 29", "mental retardation, autosomal dominant 29" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4015141 ; biolink:category biolink:Disease . OMIM:616079 a owl:Class ; rdfs:label "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" ; IAO:0000142 PMID:24026677 ; - oboInOwl:hasDbXref UMLS:C4015146 ; oboInOwl:hasExactSynonym "RDGCA", "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" ; + skos:exactMatch UMLS:C4015146 ; biolink:category biolink:Disease . OMIM:616082 a owl:Class ; @@ -340776,26 +355107,28 @@ OMIM:616082 a owl:Class ; PMID:28097321 ; RO:0002525 CHR:9606chr12p13.32 ; RO:0003303 OMIM:618221 ; - oboInOwl:hasDbXref UMLS:C1412881 ; oboInOwl:hasExactSynonym "C12ORF4", "chromosome 12 open reading frame 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57102 ; - skos:exactMatch HGNC_symbol:C12orf4 ; + skos:exactMatch UMLS:C1412881, + HGNC:1184, + HGNC_symbol:C12orf4 ; biolink:category biolink:Gene . OMIM:616085 a owl:Class ; rdfs:label "ZNF37A" ; IAO:0000142 PMID:23922231, PMID:8464732 ; - oboInOwl:hasDbXref UMLS:C1421793 ; oboInOwl:hasExactSynonym "ZNF37A", "kox21", "zinc finger protein 37a", "znf37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7587 ; - skos:exactMatch HGNC_symbol:ZNF37A ; + skos:exactMatch UMLS:C1421793, + HGNC:13102, + HGNC_symbol:ZNF37A ; biolink:category biolink:Gene . OMIM:616086 a owl:Class ; @@ -340810,7 +355143,6 @@ OMIM:616086 a owl:Class ; PMID:25261934 ; RO:0002525 CHR:9606chr1q42.2 ; RO:0003303 OMIM:616200 ; - oboInOwl:hasDbXref UMLS:C1823744 ; oboInOwl:hasExactSynonym "DNA damage-targeting vcp adaptor c1orf124", "SPRTN", "chromosome 1 open reading frame 124", @@ -340819,20 +355151,23 @@ OMIM:616086 a owl:Class ; "sprt-like n-terminal domain protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83932 ; - skos:exactMatch HGNC_symbol:SPRTN ; + skos:exactMatch UMLS:C1823744, + HGNC:25356, + HGNC_symbol:SPRTN ; biolink:category biolink:Gene . OMIM:616088 a owl:Class ; rdfs:label "RHEX" ; IAO:0000142 PMID:25092874 ; - oboInOwl:hasDbXref UMLS:C1823800 ; oboInOwl:hasExactSynonym "RHEX", "chromosome 1 open reading frame 186", "regulator of hemoglobinization and erythroid cell expansion", "regulator of human erythroid cell expansion" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440712 ; - skos:exactMatch HGNC_symbol:RHEX ; + skos:exactMatch UMLS:C1823800, + HGNC:25341, + HGNC_symbol:RHEX ; biolink:category biolink:Gene . OMIM:616089 a owl:Class ; @@ -340847,63 +355182,65 @@ OMIM:616089 a owl:Class ; PMID:6143210, PMID:6712635, PMID:7683929 ; - oboInOwl:hasDbXref UMLS:C1292300 ; oboInOwl:hasExactSynonym "GE", "blood group, gerbich system", "gerbich blood group system" ; + skos:exactMatch UMLS:C1292300 ; biolink:category biolink:Disease . OMIM:616090 a owl:Class ; rdfs:label "MIR802" ; IAO:0000142 PMID:20558762, PMID:23389544 ; - oboInOwl:hasDbXref UMLS:C1826253 ; oboInOwl:hasExactSynonym "MIR802", "micro RNA 802", "mirna802" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:768219 ; - skos:exactMatch HGNC_symbol:MIR802 ; + skos:exactMatch UMLS:C1826253, + HGNC:33140, + HGNC_symbol:MIR802 ; biolink:category biolink:Gene . OMIM:616091 a owl:Class ; rdfs:label "METTL17" ; IAO:0000142 PMID:24137763 ; - oboInOwl:hasDbXref UMLS:C1825972 ; oboInOwl:hasExactSynonym "METTL17", "methyltransferase 11 domain-containing protein 1", "methyltransferase-like 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64745 ; - skos:exactMatch HGNC_symbol:METTL17 ; + skos:exactMatch UMLS:C1825972, + HGNC:19280, + HGNC_symbol:METTL17 ; biolink:category biolink:Gene . OMIM:616092 a owl:Class ; rdfs:label "FALEC" ; IAO:0000142 PMID:25203321 ; - oboInOwl:hasDbXref UMLS:C3470867 ; oboInOwl:hasExactSynonym "FALEC", "focally amplified lncrna on chromosome 1", "focally amplified long noncoding RNA 1n epithelial cancer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100874054 ; - skos:exactMatch HGNC_symbol:FALEC ; + skos:exactMatch UMLS:C3470867, + HGNC:43713, + HGNC_symbol:FALEC ; biolink:category biolink:Gene . OMIM:616094 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 12" ; IAO:0000142 PMID:24925318 ; - oboInOwl:hasDbXref UMLS:C4015184 ; oboInOwl:hasExactSynonym "MDDGC12", "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 12", "muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related" ; rdfs:subClassOf OMIMPS:609308 ; + skos:exactMatch UMLS:C4015184 ; biolink:category biolink:Disease . OMIM:616096 a owl:Class ; rdfs:label "MHRT" ; IAO:0000142 PMID:25119045 ; - oboInOwl:hasDbXref UMLS:C3891006 ; oboInOwl:hasExactSynonym "MHRT", "lncrna mhrt", "long noncoding RNA mhrt", @@ -340911,7 +355248,9 @@ OMIM:616096 a owl:Class ; "myosin heavy chain-associated RNA transcript, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:104564225 ; - skos:exactMatch HGNC_symbol:MHRT ; + skos:exactMatch UMLS:C3891006, + HGNC:51291, + HGNC_symbol:MHRT ; biolink:category biolink:Gene . OMIM:616097 a owl:Class ; @@ -340920,13 +355259,14 @@ OMIM:616097 a owl:Class ; PMID:25008109 ; RO:0002525 CHR:9606chr11q12.3 ; RO:0003303 OMIM:616111 ; - oboInOwl:hasDbXref UMLS:C2681263 ; oboInOwl:hasExactSynonym "UQCC3", "chromosome 11 open reading frame 83", "ubiquinol-cytochrome c reductase complex assembly factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:790955 ; - skos:exactMatch HGNC_symbol:UQCC3 ; + skos:exactMatch UMLS:C2681263, + HGNC:34399, + HGNC_symbol:UQCC3 ; biolink:category biolink:Gene . OMIM:616098 a owl:Class ; @@ -340934,10 +355274,10 @@ OMIM:616098 a owl:Class ; IAO:0000142 PMID:11163238, PMID:12910267, PMID:25365219 ; - oboInOwl:hasDbXref UMLS:C4015195 ; oboInOwl:hasExactSynonym "IMD37", "immunodeficiency 37" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4015195 ; biolink:category biolink:Disease . OMIM:616100 a owl:Class ; @@ -340945,11 +355285,11 @@ OMIM:616100 a owl:Class ; IAO:0000142 PMID:25213377, PMID:25329329, PMID:7481803 ; - oboInOwl:hasDbXref UMLS:C4015214 ; oboInOwl:hasExactSynonym "IDAIL", "autoimmune lymphoproliferative syndrome, iia 5", "ctla4 haploinsufficiency with autoimmune infiltration", "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" ; + skos:exactMatch UMLS:C4015214 ; biolink:category biolink:Disease . OMIM:616101 a owl:Class ; @@ -340959,13 +355299,14 @@ OMIM:616101 a owl:Class ; PMID:25070513 ; RO:0002525 CHR:9606chr1p36.33 ; RO:0003303 OMIM:607454 ; - oboInOwl:hasDbXref UMLS:C3470100 ; oboInOwl:hasExactSynonym "TMEM240", "chromosome 1 open reading frame 70", "transmembrane protein 240" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339453 ; - skos:exactMatch HGNC_symbol:TMEM240 ; + skos:exactMatch UMLS:C3470100, + HGNC:25186, + HGNC_symbol:TMEM240 ; biolink:category biolink:Gene . OMIM:616102 a owl:Class ; @@ -340973,40 +355314,43 @@ OMIM:616102 a owl:Class ; IAO:0000142 PMID:11347906, PMID:15623505, PMID:20485507 ; - oboInOwl:hasDbXref UMLS:C1540136 ; oboInOwl:hasExactSynonym "TMX3", "kiaa1830", "thioredoxin domain-containing protein 10", "thioredoxin-related transmembrane protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54495 ; - skos:exactMatch HGNC_symbol:TMX3 ; + skos:exactMatch UMLS:C1540136, + HGNC:24718, + HGNC_symbol:TMX3 ; biolink:category biolink:Gene . OMIM:616103 a owl:Class ; rdfs:label "LRIT1" ; IAO:0000142 PMID:10777785 ; - oboInOwl:hasDbXref UMLS:C1428072 ; oboInOwl:hasExactSynonym "LRIT1", "leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 1", "pal" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26103 ; - skos:exactMatch HGNC_symbol:LRIT1 ; + skos:exactMatch UMLS:C1428072, + HGNC:23404, + HGNC_symbol:LRIT1 ; biolink:category biolink:Gene . OMIM:616104 a owl:Class ; rdfs:label "RBPJL" ; IAO:0000142 PMID:16354684, PMID:9929984 ; - oboInOwl:hasDbXref UMLS:C1422188 ; oboInOwl:hasExactSynonym "RBPJL", "rbpj-like protein", "rbpl", "suhl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11317 ; - skos:exactMatch HGNC_symbol:RBPJL ; + skos:exactMatch UMLS:C1422188, + HGNC:13761, + HGNC_symbol:RBPJL ; biolink:category biolink:Gene . OMIM:616105 a owl:Class ; @@ -341021,13 +355365,14 @@ OMIM:616105 a owl:Class ; PMID:29635513 ; RO:0002525 CHR:9606chr6q14.3 ; RO:0003303 OMIM:616354 ; - oboInOwl:hasDbXref UMLS:C1423104, - UMLS:C4225355 ; oboInOwl:hasExactSynonym "SNX14", "sorting nexin 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57231 ; - skos:exactMatch HGNC_symbol:SNX14 ; + skos:exactMatch UMLS:C1423104, + UMLS:C4225355, + HGNC:14977, + HGNC_symbol:SNX14 ; biolink:category biolink:Gene . OMIM:616107 a owl:Class ; @@ -341037,20 +355382,20 @@ OMIM:616107 a owl:Class ; PMID:25439727 ; RO:0002525 CHR:9606chr11p15.3 ; RO:0003303 OMIM:616154 ; - oboInOwl:hasDbXref UMLS:C1428564 ; oboInOwl:hasExactSynonym "FAR1", "fatty acyl coa reductase 1", "male sterility domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84188 ; - skos:exactMatch HGNC_symbol:FAR1 ; + skos:exactMatch UMLS:C1428564, + HGNC:26222, + HGNC_symbol:FAR1 ; biolink:category biolink:Gene . OMIM:616110 a owl:Class ; rdfs:label "DTX4" ; IAO:0000142 PMID:10231032, PMID:22388039 ; - oboInOwl:hasDbXref UMLS:C1428799 ; oboInOwl:hasExactSynonym "DTX4", "deltex e3 ubiquitin ligase 4", "deltex, drosophila, homolog of, 4", @@ -341058,7 +355403,9 @@ OMIM:616110 a owl:Class ; "ring finger protein 155" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23220 ; - skos:exactMatch HGNC_symbol:DTX4 ; + skos:exactMatch UMLS:C1428799, + HGNC:29151, + HGNC_symbol:DTX4 ; biolink:category biolink:Gene . OMIM:616112 a owl:Class ; @@ -341068,20 +355415,21 @@ OMIM:616112 a owl:Class ; PMID:30291184 ; RO:0002525 CHR:9606chr3p14.1 ; RO:0003303 OMIM:616165 ; - oboInOwl:hasDbXref UMLS:C1416888 ; oboInOwl:hasExactSynonym "LMOD3", "leiomodin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56203 ; - skos:exactMatch HGNC_symbol:LMOD3 ; + skos:exactMatch UMLS:C1416888, + HGNC:6649, + HGNC_symbol:LMOD3 ; biolink:category biolink:Gene . OMIM:616113 a owl:Class ; rdfs:label "polyendocrine-polyneuropathy syndrome" ; IAO:0000142 PMID:25248098 ; - oboInOwl:hasDbXref UMLS:C4015261 ; oboInOwl:hasExactSynonym "PEPNS", "polyendocrine-polyneuropathy syndrome" ; + skos:exactMatch UMLS:C4015261 ; biolink:category biolink:Disease . OMIM:616114 a owl:Class ; @@ -341090,35 +355438,37 @@ OMIM:616114 a owl:Class ; PMID:17027977, PMID:20631145, PMID:21899694 ; - oboInOwl:hasDbXref UMLS:C1425982 ; oboInOwl:hasExactSynonym "CHD6", "chd5", "chromodomain helicase dna-binding protein 6", "rigb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84181 ; - skos:exactMatch HGNC_symbol:CHD6 ; + skos:exactMatch UMLS:C1425982, + HGNC:19057, + HGNC_symbol:CHD6 ; biolink:category biolink:Gene . OMIM:616115 a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome 4" ; IAO:0000142 PMID:25385754 ; - oboInOwl:hasDbXref UMLS:C4015276 ; oboInOwl:hasExactSynonym "FCAS4", "familial cold autoinflammatory syndrome 4" ; rdfs:subClassOf OMIMPS:120100 ; + skos:exactMatch UMLS:C4015276 ; biolink:category biolink:Disease . OMIM:616119 a owl:Class ; rdfs:label "CFAP126" ; IAO:0000142 PMID:22153975 ; - oboInOwl:hasDbXref UMLS:C1823806 ; oboInOwl:hasExactSynonym "CFAP126", "cilia- and flagella-associated protein 126", "flattop" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257177 ; - skos:exactMatch HGNC_symbol:CFAP126 ; + skos:exactMatch UMLS:C1823806, + HGNC:32325, + HGNC_symbol:CFAP126 ; biolink:category biolink:Gene . OMIM:616120 a owl:Class ; @@ -341129,109 +355479,116 @@ OMIM:616120 a owl:Class ; PMID:27016154 ; RO:0002525 CHR:9606chr10q24.31 ; RO:0003303 OMIM:616127 ; - oboInOwl:hasDbXref UMLS:C1428506 ; oboInOwl:hasExactSynonym "CWF19L1", "c19l1", "cwf19-like cell cycle control factor 1", "cwf19-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55280 ; - skos:exactMatch HGNC_symbol:CWF19L1 ; + skos:exactMatch UMLS:C1428506, + HGNC:25613, + HGNC_symbol:CWF19L1 ; biolink:category biolink:Gene . OMIM:616122 a owl:Class ; rdfs:label "FAM86B1" ; IAO:0000142 PMID:25231979 ; - oboInOwl:hasDbXref UMLS:C1825174 ; oboInOwl:hasExactSynonym "FAM86B1", "family with sequence similarity 86, member b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85002 ; - skos:exactMatch HGNC_symbol:FAM86B1 ; + skos:exactMatch UMLS:C1825174, + HGNC:28268, + HGNC_symbol:FAM86B1 ; biolink:category biolink:Gene . OMIM:616123 a owl:Class ; rdfs:label "FAM86B2" ; IAO:0000142 PMID:23349634, PMID:25231979 ; - oboInOwl:hasDbXref UMLS:C1825175 ; oboInOwl:hasExactSynonym "FAM86B2", "family with sequence similarity 86, member b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653333 ; - skos:exactMatch HGNC_symbol:FAM86B2 ; + skos:exactMatch UMLS:C1825175, + HGNC:32222, + HGNC_symbol:FAM86B2 ; biolink:category biolink:Gene . OMIM:616124 a owl:Class ; rdfs:label "FAM86C1P" ; IAO:0000142 PMID:23349634, PMID:25231979 ; - oboInOwl:hasDbXref UMLS:C3470175 ; oboInOwl:hasExactSynonym "FAM86C1P", "fam86c", "family with sequence similarity 86, member c1", "family with sequence similarity 86, member c1, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55199 ; - skos:exactMatch HGNC_symbol:FAM86C1P ; + skos:exactMatch UMLS:C3470175, + HGNC:25561, + HGNC_symbol:FAM86C1P ; biolink:category biolink:Gene . OMIM:616125 a owl:Class ; rdfs:label "PRMT9" ; IAO:0000142 PMID:19300908 ; - oboInOwl:hasDbXref UMLS:C3887717 ; oboInOwl:hasExactSynonym "PRMT9", "prmt10", "protein arginine methyltransferase 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90826 ; - skos:exactMatch HGNC_symbol:PRMT9 ; + skos:exactMatch UMLS:C3887717, + HGNC:25099, + HGNC_symbol:PRMT9 ; biolink:category biolink:Gene . OMIM:616128 a owl:Class ; rdfs:label "FAM89B" ; IAO:0000142 PMID:25107909, PMID:9525630 ; - oboInOwl:hasDbXref UMLS:C1825181 ; oboInOwl:hasExactSynonym "FAM89B", "family with sequence similarity 89, member B", "leucine repeat adaptor protein, 25-kd", "mammary tumor virus receptor, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23625 ; - skos:exactMatch HGNC_symbol:FAM89B ; + skos:exactMatch UMLS:C1825181, + HGNC:16708, + HGNC_symbol:FAM89B ; biolink:category biolink:Gene . OMIM:616129 a owl:Class ; rdfs:label "LURAP1" ; IAO:0000142 PMID:18854160 ; - oboInOwl:hasDbXref UMLS:C3470921 ; oboInOwl:hasExactSynonym "LURAP1", "leucine repeat adaptor protein, 35-kd, a", "leucine-rich adaptor protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:541468 ; - skos:exactMatch HGNC_symbol:LURAP1 ; + skos:exactMatch UMLS:C3470921, + HGNC:32327, + HGNC_symbol:LURAP1 ; biolink:category biolink:Gene . OMIM:616130 a owl:Class ; rdfs:label "LURAP1L" ; IAO:0000142 PMID:25107909 ; - oboInOwl:hasDbXref UMLS:C1538365 ; oboInOwl:hasExactSynonym "LURAP1L", "leucine repeat adaptor protein, 35-kd, B", "leucine-rich adaptor protein 1-like", "lurap1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286343 ; - skos:exactMatch HGNC_symbol:LURAP1L ; + skos:exactMatch UMLS:C1538365, + HGNC:31452, + HGNC_symbol:LURAP1L ; biolink:category biolink:Gene . OMIM:616131 a owl:Class ; rdfs:label "GACAT2" ; IAO:0000142 PMID:24961350, PMID:25077925 ; - oboInOwl:hasDbXref UMLS:C3889224 ; oboInOwl:hasExactSynonym "GACAT2", "gastric cancer-associated transcript 2, noncoding", "lincrna717", @@ -341239,13 +355596,14 @@ OMIM:616131 a owl:Class ; "mtcl1 antisense RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100287082 ; - skos:exactMatch HGNC_symbol:GACAT2 ; + skos:exactMatch UMLS:C3889224, + HGNC:50516, + HGNC_symbol:GACAT2 ; biolink:category biolink:Gene . OMIM:616132 a owl:Class ; rdfs:label "GACAT3" ; IAO:0000142 PMID:25077925 ; - oboInOwl:hasDbXref UMLS:C3889223 ; oboInOwl:hasExactSynonym "GACAT3", "gastric cancer-associated transcript 3, noncoding", "linc01458", @@ -341253,31 +355611,35 @@ OMIM:616132 a owl:Class ; "long noncoding RNA ac130170" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:104797537 ; - skos:exactMatch HGNC_symbol:GACAT3 ; + skos:exactMatch UMLS:C3889223, + HGNC:50847, + HGNC_symbol:GACAT3 ; biolink:category biolink:Gene . OMIM:616133 a owl:Class ; rdfs:label "MPV17L2" ; IAO:0000142 PMID:24948607 ; - oboInOwl:hasDbXref UMLS:C2681838 ; oboInOwl:hasExactSynonym "MPV17L2", "mpv17 mitochondrial inner membrane protein-like 2", "mpv17-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84769 ; - skos:exactMatch HGNC_symbol:MPV17L2 ; + skos:exactMatch UMLS:C2681838, + HGNC:28177, + HGNC_symbol:MPV17L2 ; biolink:category biolink:Gene . OMIM:616134 a owl:Class ; rdfs:label "H3F3C" ; IAO:0000142 PMID:21274551 ; - oboInOwl:hasDbXref UMLS:C2829556 ; oboInOwl:hasExactSynonym "H3F3C", "h3 histone, family 3c", "h3.5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440093 ; - skos:exactMatch HGNC_symbol:H3-5 ; + skos:exactMatch UMLS:C2829556, + HGNC:33164, + HGNC_symbol:H3-5 ; biolink:category biolink:Gene . OMIM:616135 a owl:Class ; @@ -341287,14 +355649,15 @@ OMIM:616135 a owl:Class ; PMID:23774268, PMID:25092312, PMID:9398535 ; - oboInOwl:hasDbXref UMLS:C1421940 ; oboInOwl:hasExactSynonym "IFIT5", "interferon-induced protein with tetratricopeptide repeats 5", "interferon-stimulated protein, 58-kd", "retinoic acid- and interferon-induced protein, 58-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24138 ; - skos:exactMatch HGNC_symbol:IFIT5 ; + skos:exactMatch UMLS:C1421940, + HGNC:13328, + HGNC_symbol:IFIT5 ; biolink:category biolink:Gene . OMIM:616136 a owl:Class ; @@ -341303,45 +355666,47 @@ OMIM:616136 a owl:Class ; PMID:25266658 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:619688 ; - oboInOwl:hasDbXref UMLS:C1823780 ; oboInOwl:hasExactSynonym "RNF220", "ring finger protein 220" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55182 ; - skos:exactMatch HGNC_symbol:RNF220 ; + skos:exactMatch UMLS:C1823780, + HGNC:25552, + HGNC_symbol:RNF220 ; biolink:category biolink:Gene . OMIM:616137 a owl:Class ; rdfs:label "MIR873" ; IAO:0000142 PMID:25183005 ; - oboInOwl:hasDbXref UMLS:C2239709 ; oboInOwl:hasExactSynonym "MIR873", "micro RNA 873", "mirna873" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126316 ; - skos:exactMatch HGNC_symbol:MIR873 ; + skos:exactMatch UMLS:C2239709, + HGNC:33663, + HGNC_symbol:MIR873 ; biolink:category biolink:Gene . OMIM:616138 a owl:Class ; rdfs:label "perrault syndrome 5" ; IAO:0000142 PMID:25355836 ; - oboInOwl:hasDbXref UMLS:C4015307 ; oboInOwl:hasExactSynonym "PRLTS5", "perrault syndrome 5" ; rdfs:subClassOf OMIMPS:233400 ; + skos:exactMatch UMLS:C4015307 ; biolink:category biolink:Disease . OMIM:616139 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 27" ; IAO:0000142 PMID:24272827, PMID:28377535 ; - oboInOwl:hasDbXref UMLS:C4015316, - ORPHA:3451 ; oboInOwl:hasExactSynonym "DEE27", "developmental and epileptic encephalopathy 27", "epileptic encephalopathy, early infantile, 27" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4015316, + ORPHA:3451 ; biolink:category biolink:Disease . OMIM:616141 a owl:Class ; @@ -341349,24 +355714,26 @@ OMIM:616141 a owl:Class ; IAO:0000142 PMID:11262398, PMID:11331621, PMID:25312643 ; - oboInOwl:hasDbXref UMLS:C1422661 ; oboInOwl:hasExactSynonym "H2AFY2", "h2a histone family, member y2", "macro h2a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55506 ; - skos:exactMatch HGNC_symbol:MACROH2A2 ; + skos:exactMatch UMLS:C1422661, + HGNC:14453, + HGNC_symbol:MACROH2A2 ; biolink:category biolink:Gene . OMIM:616142 a owl:Class ; rdfs:label "FAM98B" ; IAO:0000142 PMID:24608264 ; - oboInOwl:hasDbXref UMLS:C1825218 ; oboInOwl:hasExactSynonym "FAM98B", "family with sequence similarity 98, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283742 ; - skos:exactMatch HGNC_symbol:FAM98B ; + skos:exactMatch UMLS:C1825218, + HGNC:26773, + HGNC_symbol:FAM98B ; biolink:category biolink:Gene . OMIM:616143 a owl:Class ; @@ -341376,13 +355743,14 @@ OMIM:616143 a owl:Class ; PMID:10618491, PMID:25271157, PMID:33029007 ; - oboInOwl:hasDbXref UMLS:C1416944 ; oboInOwl:hasExactSynonym "LYPLA2", "acyl protein thioesterase 2", "lysophospholipase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11313 ; - skos:exactMatch HGNC_symbol:LYPLA2 ; + skos:exactMatch UMLS:C1416944, + HGNC:6738, + HGNC_symbol:LYPLA2 ; biolink:category biolink:Gene . OMIM:616144 a owl:Class ; @@ -341397,13 +355765,14 @@ OMIM:616144 a owl:Class ; PMID:26123727 ; RO:0002525 CHR:9606chr15q25.2 ; RO:0003303 OMIM:251300 ; - oboInOwl:hasDbXref UMLS:C1823837 ; oboInOwl:hasExactSynonym "WDR73", "hspc264", "wd repeat-containing protein 73" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84942 ; - skos:exactMatch HGNC_symbol:WDR73 ; + skos:exactMatch UMLS:C1823837, + HGNC:25928, + HGNC_symbol:WDR73 ; biolink:category biolink:Gene . OMIM:616146 a owl:Class ; @@ -341415,27 +355784,29 @@ OMIM:616146 a owl:Class ; PMID:9777339 ; RO:0002525 CHR:9606chr13q32.1 ; RO:0003303 OMIM:616145 ; - oboInOwl:hasDbXref UMLS:C1426860 ; oboInOwl:hasExactSynonym "TGDS", "growth-inhibiting protein 21", "short-chain dehydrogenase/reductase family 2e, member 1", "tdp-glucose 4,6-dehydratase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23483 ; - skos:exactMatch HGNC_symbol:TGDS ; + skos:exactMatch UMLS:C1426860, + HGNC:20324, + HGNC_symbol:TGDS ; biolink:category biolink:Gene . OMIM:616147 a owl:Class ; rdfs:label "CDK15" ; IAO:0000142 PMID:24866247 ; - oboInOwl:hasDbXref UMLS:C2239810 ; oboInOwl:hasExactSynonym "CDK15", "als2 chromosome region gene 7", "cyclin-dependent kinase 15", "pftaire protein kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65061 ; - skos:exactMatch HGNC_symbol:CDK15 ; + skos:exactMatch UMLS:C2239810, + HGNC:14434, + HGNC_symbol:CDK15 ; biolink:category biolink:Gene . OMIM:616148 a owl:Class ; @@ -341443,8 +355814,6 @@ OMIM:616148 a owl:Class ; IAO:0000142 PMID:12095697, PMID:18601909, PMID:22588174 ; - oboInOwl:hasDbXref UMLS:C1540063, - UMLS:C4017673 ; oboInOwl:hasExactSynonym "TRIM59", "ift80-long", "mouse ring finger 1, homolog of", @@ -341452,41 +355821,46 @@ OMIM:616148 a owl:Class ; "tripartite motif-containing protein 59" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286827 ; - skos:exactMatch HGNC_symbol:TRIM59 ; + skos:exactMatch UMLS:C1540063, + UMLS:C4017673, + HGNC:30834, + HGNC_symbol:TRIM59 ; biolink:category biolink:Gene . OMIM:616149 a owl:Class ; rdfs:label "SLC25A36" ; IAO:0000142 PMID:23266187, PMID:25320081 ; - oboInOwl:hasDbXref UMLS:C1822746 ; oboInOwl:hasExactSynonym "SLC25A36", "pyrimidine nucleotide carrier 2", "solute carrier family 25 (mitochondrial carrier, pyrimidine nucleotide transporter), member 36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55186 ; - skos:exactMatch HGNC_symbol:SLC25A36 ; + skos:exactMatch UMLS:C1822746, + HGNC:25554, + HGNC_symbol:SLC25A36 ; biolink:category biolink:Gene . OMIM:616150 a owl:Class ; rdfs:label "SLC25A48" ; IAO:0000142 PMID:23266187 ; - oboInOwl:hasDbXref UMLS:C3146464 ; oboInOwl:hasExactSynonym "SLC25A48", "solute carrier family 25, member 48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153328 ; - skos:exactMatch HGNC_symbol:SLC25A48 ; + skos:exactMatch UMLS:C3146464, + HGNC:30451, + HGNC_symbol:SLC25A48 ; biolink:category biolink:Gene . OMIM:616151 a owl:Class ; rdfs:label "macular dystrophy, vitelliform, 4" ; IAO:0000142 PMID:23993198, PMID:25085631 ; - oboInOwl:hasDbXref UMLS:C4015342 ; oboInOwl:hasExactSynonym "VMD4", "macular dystrophy, vitelliform, 4" ; rdfs:subClassOf OMIMPS:153840 ; + skos:exactMatch UMLS:C4015342 ; biolink:category biolink:Disease . OMIM:616152 a owl:Class ; @@ -341494,178 +355868,191 @@ OMIM:616152 a owl:Class ; IAO:0000142 PMID:20673862, PMID:23993198, PMID:25085631 ; - oboInOwl:hasDbXref UMLS:C4015343 ; oboInOwl:hasExactSynonym "VMD5", "macular dystrophy, vitelliform, 5" ; rdfs:subClassOf OMIMPS:153840 ; + skos:exactMatch UMLS:C4015343 ; biolink:category biolink:Disease . OMIM:616153 a owl:Class ; rdfs:label "SLC25A52" ; IAO:0000142 PMID:23266187 ; - oboInOwl:hasDbXref UMLS:C3469821 ; oboInOwl:hasExactSynonym "SLC25A52", "mitochondrial carrier triple repeat 2", "solute carrier family 25, member 52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147407 ; - skos:exactMatch HGNC_symbol:SLC25A52 ; + skos:exactMatch UMLS:C3469821, + HGNC:23324, + HGNC_symbol:SLC25A52 ; biolink:category biolink:Gene . OMIM:616155 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2s" ; IAO:0000142 PMID:25439726, PMID:25568292 ; - oboInOwl:hasDbXref UMLS:C4015349 ; oboInOwl:hasExactSynonym "CMT2S", "charcot-marie-tooth disease, axonal, iia 2s", "charcot-marie-tooth disease, axonal, autosomal recessive, iia 2s", "charcot-marie-tooth neuropathy, iia 2s" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4015349 ; biolink:category biolink:Disease . OMIM:616156 a owl:Class ; rdfs:label "FAR2" ; IAO:0000142 PMID:15220348 ; - oboInOwl:hasDbXref UMLS:C1428496 ; oboInOwl:hasExactSynonym "FAR2", "fatty acyl coa reductase 2", "male sterility domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55711 ; - skos:exactMatch HGNC_symbol:FAR2 ; + skos:exactMatch UMLS:C1428496, + HGNC:25531, + HGNC_symbol:FAR2 ; biolink:category biolink:Gene . OMIM:616157 a owl:Class ; rdfs:label "DHRS13" ; IAO:0000142 PMID:19027726 ; - oboInOwl:hasDbXref UMLS:C1824933 ; oboInOwl:hasExactSynonym "DHRS13", "short-chain dehydrogenase/reductase family 7c, member 5", "short-chain dehydrogenase/reductase family, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147015 ; - skos:exactMatch HGNC_symbol:DHRS13 ; + skos:exactMatch UMLS:C1824933, + HGNC:28326, + HGNC_symbol:DHRS13 ; biolink:category biolink:Gene . OMIM:616159 a owl:Class ; rdfs:label "DHRS11" ; IAO:0000142 PMID:19027726 ; - oboInOwl:hasDbXref UMLS:C2681414 ; oboInOwl:hasExactSynonym "DHRS11", "short-chain dehydrogenase/reductase family 24c, member 1", "short-chain dehydrogenase/reductase family, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79154 ; - skos:exactMatch HGNC_symbol:DHRS11 ; + skos:exactMatch UMLS:C2681414, + HGNC:28639, + HGNC_symbol:DHRS11 ; biolink:category biolink:Gene . OMIM:616160 a owl:Class ; rdfs:label "DHRS7B" ; IAO:0000142 PMID:19027726 ; - oboInOwl:hasDbXref UMLS:C1824930 ; oboInOwl:hasExactSynonym "DHRS7B", "short-chain dehydrogenase/reductase family 32c, member 1", "short-chain dehydrogenase/reductase family, member 7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25979 ; - skos:exactMatch HGNC_symbol:DHRS7B ; + skos:exactMatch UMLS:C1824930, + HGNC:24547, + HGNC_symbol:DHRS7B ; biolink:category biolink:Gene . OMIM:616161 a owl:Class ; rdfs:label "DHRS7C" ; IAO:0000142 PMID:19027726 ; - oboInOwl:hasDbXref UMLS:C1824931 ; oboInOwl:hasExactSynonym "DHRS7C", "short-chain dehydrogenase/reductase family 32c, member 2", "short-chain dehydrogenase/reductase family, member 7c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201140 ; - skos:exactMatch HGNC_symbol:DHRS7C ; + skos:exactMatch UMLS:C1824931, + HGNC:32423, + HGNC_symbol:DHRS7C ; biolink:category biolink:Gene . OMIM:616162 a owl:Class ; rdfs:label "SDR39U1" ; IAO:0000142 PMID:19027726 ; - oboInOwl:hasDbXref UMLS:C1426829 ; oboInOwl:hasExactSynonym "SDR39U1", "short-chain dehydrogenase/reductase family 39u, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56948 ; - skos:exactMatch HGNC_symbol:SDR39U1 ; + skos:exactMatch UMLS:C1426829, + HGNC:20275, + HGNC_symbol:SDR39U1 ; biolink:category biolink:Gene . OMIM:616163 a owl:Class ; rdfs:label "DHRS12" ; IAO:0000142 PMID:19027726 ; - oboInOwl:hasDbXref UMLS:C1824932 ; oboInOwl:hasExactSynonym "DHRS12", "short-chain dehydrogenase/reductase family 40c, member 1", "short-chain dehydrogenase/reductase family, member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79758 ; - skos:exactMatch HGNC_symbol:DHRS12 ; + skos:exactMatch UMLS:C1824932, + HGNC:25832, + HGNC_symbol:DHRS12 ; biolink:category biolink:Gene . OMIM:616164 a owl:Class ; rdfs:label "SDR42E1" ; IAO:0000142 PMID:19027726 ; - oboInOwl:hasDbXref UMLS:C2680368 ; oboInOwl:hasExactSynonym "SDR42E1", "short-chain dehydrogenase/reductase family 42e, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93517 ; - skos:exactMatch HGNC_symbol:SDR42E1 ; + skos:exactMatch UMLS:C2680368, + HGNC:29834, + HGNC_symbol:SDR42E1 ; biolink:category biolink:Gene . OMIM:616167 a owl:Class ; rdfs:label "DCUN1D3" ; IAO:0000142 PMID:25349211 ; - oboInOwl:hasDbXref UMLS:C1824896 ; oboInOwl:hasExactSynonym "DCUN1D3", "dcn1 domain-containing protein 3", "squamous cell carcinoma-related oncogene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123879 ; - skos:exactMatch HGNC_symbol:DCUN1D3 ; + skos:exactMatch UMLS:C1824896, + HGNC:28734, + HGNC_symbol:DCUN1D3 ; biolink:category biolink:Gene . OMIM:616168 a owl:Class ; rdfs:label "TOMM6" ; IAO:0000142 PMID:18331822, PMID:25378463 ; - oboInOwl:hasDbXref UMLS:C2680495 ; oboInOwl:hasExactSynonym "TOMM6", "translocase of outer mitochondrial membrane 6", "translocase of outer mitochondrial membrane 6, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100188893 ; - skos:exactMatch HGNC_symbol:TOMM6 ; + skos:exactMatch UMLS:C2680495, + HGNC:34528, + HGNC_symbol:TOMM6 ; biolink:category biolink:Gene . OMIM:616169 a owl:Class ; rdfs:label "TOMM5" ; IAO:0000142 PMID:18331822 ; - oboInOwl:hasDbXref UMLS:C1538341 ; oboInOwl:hasExactSynonym "TOMM5", "translocase of outer mitochondrial membrane 5", "translocase of outer mitochondrial membrane 5, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401505 ; - skos:exactMatch HGNC_symbol:TOMM5 ; + skos:exactMatch UMLS:C1538341, + HGNC:31369, + HGNC_symbol:TOMM5 ; biolink:category biolink:Gene . OMIM:616173 a owl:Class ; rdfs:label "NSRP1" ; IAO:0000142 PMID:21296756 ; - oboInOwl:hasDbXref UMLS:C1824579 ; oboInOwl:hasExactSynonym "NSRP1", "coiled-coil domain-containing protein 55", "nuclear speckle splicing regulatory protein 1", "nuclear speckle-related protein, 70-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84081 ; - skos:exactMatch HGNC_symbol:NSRP1 ; + skos:exactMatch UMLS:C1824579, + HGNC:25305, + HGNC_symbol:NSRP1 ; biolink:category biolink:Gene . OMIM:616174 a owl:Class ; @@ -341677,13 +356064,14 @@ OMIM:616174 a owl:Class ; PMID:8867657 ; RO:0002525 CHR:9606chr2q14.1 ; RO:0003303 OMIM:272440 ; - oboInOwl:hasDbXref UMLS:C1824739 ; oboInOwl:hasExactSynonym "CKAP2L", "cytoskeleton-associated protein 2-like", "radial fiber and mitotic spindle protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150468 ; - skos:exactMatch HGNC_symbol:CKAP2L ; + skos:exactMatch UMLS:C1824739, + HGNC:26877, + HGNC_symbol:CKAP2L ; biolink:category biolink:Gene . OMIM:616175 a owl:Class ; @@ -341694,14 +356082,15 @@ OMIM:616175 a owl:Class ; PMID:21245296, PMID:24020373, PMID:25320092 ; - oboInOwl:hasDbXref UMLS:C1425009 ; oboInOwl:hasExactSynonym "UBE2J1", "noncanonical ubiquitin-conjugating enzyme 1", "ubc6e", "ubiquitin-conjugating enzyme e2 j1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51465 ; - skos:exactMatch HGNC_symbol:UBE2J1 ; + skos:exactMatch UMLS:C1425009, + HGNC:17598, + HGNC_symbol:UBE2J1 ; biolink:category biolink:Gene . OMIM:616177 a owl:Class ; @@ -341714,7 +356103,6 @@ OMIM:616177 a owl:Class ; PMID:8357004 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:602557 ; - oboInOwl:hasDbXref UMLS:C1423991 ; oboInOwl:hasExactSynonym "DDRGK1", "chromosome 20 open reading frame 116", "dashurin", @@ -341722,7 +356110,9 @@ OMIM:616177 a owl:Class ; "ufm1-binding protein containing a pci domain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65992 ; - skos:exactMatch HGNC_symbol:DDRGK1 ; + skos:exactMatch UMLS:C1423991, + HGNC:16110, + HGNC_symbol:DDRGK1 ; biolink:category biolink:Gene . OMIM:616178 a owl:Class ; @@ -341732,27 +356122,29 @@ OMIM:616178 a owl:Class ; PMID:31656313 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:618481 ; - oboInOwl:hasDbXref UMLS:C1823395, - UMLS:C4760579 ; oboInOwl:hasExactSynonym "TMEM132E", "transmembrane protein 132e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124842 ; - skos:exactMatch HGNC_symbol:TMEM132E ; + skos:exactMatch UMLS:C1823395, + UMLS:C4760579, + HGNC:26991, + HGNC_symbol:TMEM132E ; biolink:category biolink:Gene . OMIM:616179 a owl:Class ; rdfs:label "TXNDC16" ; IAO:0000142 PMID:10718198, PMID:25122923 ; - oboInOwl:hasDbXref UMLS:C2240135 ; oboInOwl:hasExactSynonym "TXNDC16", "erp90", "kiaa1344", "thioredoxin domain-containing protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57544 ; - skos:exactMatch HGNC_symbol:TXNDC16 ; + skos:exactMatch UMLS:C2240135, + HGNC:19965, + HGNC_symbol:TXNDC16 ; biolink:category biolink:Gene . OMIM:616180 a owl:Class ; @@ -341760,26 +356152,28 @@ OMIM:616180 a owl:Class ; IAO:0000142 PMID:10048485, PMID:10660574, PMID:10677249 ; - oboInOwl:hasDbXref UMLS:C1825385 ; oboInOwl:hasExactSynonym "GOLGA8A", "golgin a8 family, member a", "kiaa0855" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23015 ; - skos:exactMatch HGNC_symbol:GOLGA8A ; + skos:exactMatch UMLS:C1825385, + HGNC:31972, + HGNC_symbol:GOLGA8A ; biolink:category biolink:Gene . OMIM:616181 a owl:Class ; rdfs:label "ZNF713" ; IAO:0000142 PMID:25196122 ; - oboInOwl:hasDbXref UMLS:C1414783, - UMLS:C1824016 ; oboInOwl:hasExactSynonym "ZNF713", "fragile site, folic acid type, rare, fra(7)(p11.2)", "zinc finger protein 713" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:349075 ; - skos:exactMatch HGNC_symbol:ZNF713 ; + skos:exactMatch UMLS:C1414783, + UMLS:C1824016, + HGNC:22043, + HGNC_symbol:ZNF713 ; biolink:category biolink:Gene . OMIM:616183 a owl:Class ; @@ -341790,20 +356184,20 @@ OMIM:616183 a owl:Class ; PMID:26595381 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:617563 ; - oboInOwl:hasDbXref UMLS:C1823369 ; oboInOwl:hasExactSynonym "TMEM107", "schlei, mouse, homolog of", "transmembrane protein 107" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84314 ; - skos:exactMatch HGNC_symbol:TMEM107 ; + skos:exactMatch UMLS:C1823369, + HGNC:28128, + HGNC_symbol:TMEM107 ; biolink:category biolink:Gene . OMIM:616184 a owl:Class ; rdfs:label "CLUH" ; IAO:0000142 PMID:25349259, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1825669 ; oboInOwl:hasExactSynonym "CLUH", "clu1, s. cerevisiae, homolog of", "clua, d. discoideum, homolog of", @@ -341811,7 +356205,9 @@ OMIM:616184 a owl:Class ; "kiaa0664" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23277 ; - skos:exactMatch HGNC_symbol:CLUH ; + skos:exactMatch UMLS:C1825669, + HGNC:29094, + HGNC_symbol:CLUH ; biolink:category biolink:Gene . OMIM:616186 a owl:Class ; @@ -341853,12 +356249,12 @@ OMIM:616186 a owl:Class ; PMID:9851976 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:194071 ; - oboInOwl:hasDbXref UMLS:C1415847 ; oboInOwl:hasExactSynonym "h19 icr", "h19/igf2-imprinting control region", "icr1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105259599 ; + skos:exactMatch UMLS:C1415847 ; biolink:category biolink:Gene . OMIM:616189 a owl:Class ; @@ -341867,7 +356263,6 @@ OMIM:616189 a owl:Class ; PMID:20713356, PMID:21310715, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C2681538 ; oboInOwl:hasExactSynonym "CMTR1", "cap methyltransferase 1", "ftsj methyltransferase domain-containing protein 2", @@ -341876,20 +356271,23 @@ OMIM:616189 a owl:Class ; "methyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23070 ; - skos:exactMatch HGNC_symbol:CMTR1 ; + skos:exactMatch UMLS:C2681538, + HGNC:21077, + HGNC_symbol:CMTR1 ; biolink:category biolink:Gene . OMIM:616190 a owl:Class ; rdfs:label "CMTR2" ; IAO:0000142 PMID:21310715 ; - oboInOwl:hasDbXref UMLS:C2681537 ; oboInOwl:hasExactSynonym "CMTR2", "cap methyltransferase 2", "ftsj methyltransferase domain-containing protein 1", "methyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55783 ; - skos:exactMatch HGNC_symbol:CMTR2 ; + skos:exactMatch UMLS:C2681537, + HGNC:25635, + HGNC_symbol:CMTR2 ; biolink:category biolink:Gene . OMIM:616191 a owl:Class ; @@ -341897,9 +356295,6 @@ OMIM:616191 a owl:Class ; IAO:0000142 PMID:10231032, PMID:24986922, PMID:9115257 ; - oboInOwl:hasDbXref UMLS:C1428379, - UMLS:C4017674, - UMLS:C4017675 ; oboInOwl:hasExactSynonym "DLGAP4", "discs large-associated protein 4", "dlgap ncrnas", @@ -341908,21 +356303,26 @@ OMIM:616191 a owl:Class ; "sap90/psd95-associated protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22839 ; - skos:exactMatch HGNC_symbol:DLGAP4 ; + skos:exactMatch UMLS:C1428379, + UMLS:C4017674, + UMLS:C4017675, + HGNC:24476, + HGNC_symbol:DLGAP4 ; biolink:category biolink:Gene . OMIM:616194 a owl:Class ; rdfs:label "UTP15" ; IAO:0000142 PMID:24219289, PMID:24754225 ; - oboInOwl:hasDbXref UMLS:C1823610 ; oboInOwl:hasExactSynonym "UTP15", "u3 small nucleolar rna-associated protein 15", "utp15 small subunit processome component", "utp15, u3 small nucleolar ribonucleoprotein, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84135 ; - skos:exactMatch HGNC_symbol:UTP15 ; + skos:exactMatch UMLS:C1823610, + HGNC:25758, + HGNC_symbol:UTP15 ; biolink:category biolink:Gene . OMIM:616195 a owl:Class ; @@ -341930,38 +356330,41 @@ OMIM:616195 a owl:Class ; IAO:0000142 PMID:24219289, PMID:24754225, PMID:7584026 ; - oboInOwl:hasDbXref UMLS:C1538086 ; oboInOwl:hasExactSynonym "WDR43", "kiaa0007", "utp5", "wd repeat-containing protein 43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23160 ; - skos:exactMatch HGNC_symbol:WDR43 ; + skos:exactMatch UMLS:C1538086, + HGNC:28945, + HGNC_symbol:WDR43 ; biolink:category biolink:Gene . OMIM:616196 a owl:Class ; rdfs:label "DCAF13" ; IAO:0000142 PMID:24754225 ; - oboInOwl:hasDbXref UMLS:C1823851 ; oboInOwl:hasExactSynonym "DCAF13", "ddb1- and cul4-associated factor 13", "wd repeat- and sof1 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25879 ; - skos:exactMatch HGNC_symbol:DCAF13 ; + skos:exactMatch UMLS:C1823851, + HGNC:24535, + HGNC_symbol:DCAF13 ; biolink:category biolink:Gene . OMIM:616197 a owl:Class ; rdfs:label "NOL10" ; IAO:0000142 PMID:24754225 ; - oboInOwl:hasDbXref UMLS:C1826451 ; oboInOwl:hasExactSynonym "NOL10", "nucleolar protein 10", "polyglutamine-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79954 ; - skos:exactMatch HGNC_symbol:NOL10 ; + skos:exactMatch UMLS:C1826451, + HGNC:25862, + HGNC_symbol:NOL10 ; biolink:category biolink:Gene . OMIM:616203 a owl:Class ; @@ -341971,33 +356374,34 @@ OMIM:616203 a owl:Class ; PMID:25561175, PMID:25567906, PMID:28336668 ; - oboInOwl:hasDbXref UMLS:C2239932 ; oboInOwl:hasExactSynonym "SLC38A9", "solute carrier family 38, member 9", "upregulated 1n lung cancer 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153129 ; - skos:exactMatch HGNC_symbol:SLC38A9 ; + skos:exactMatch UMLS:C2239932, + HGNC:26907, + HGNC_symbol:SLC38A9 ; biolink:category biolink:Gene . OMIM:616205 a owl:Class ; rdfs:label "MIR648" ; IAO:0000142 PMID:16381832, PMID:25403488 ; - oboInOwl:hasDbXref UMLS:C1826227 ; oboInOwl:hasExactSynonym "MIR648", "micro RNA 648", "mirna648" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693233 ; - skos:exactMatch HGNC_symbol:MIR648 ; + skos:exactMatch UMLS:C1826227, + HGNC:32904, + HGNC_symbol:MIR648 ; biolink:category biolink:Gene . OMIM:616206 a owl:Class ; rdfs:label "NBAT1" ; IAO:0000142 PMID:25517750, PMID:26016895 ; - oboInOwl:hasDbXref UMLS:C3890693 ; oboInOwl:hasExactSynonym "NBAT1", "cancer susceptibility candidate 14", "lncrna nbat1", @@ -342005,13 +356409,14 @@ OMIM:616206 a owl:Class ; "neuroblastoma-associated transcript 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729177 ; - skos:exactMatch HGNC_symbol:NBAT1 ; + skos:exactMatch UMLS:C3890693, + HGNC:49075, + HGNC_symbol:NBAT1 ; biolink:category biolink:Gene . OMIM:616207 a owl:Class ; rdfs:label "NRAV" ; IAO:0000142 PMID:25525793 ; - oboInOwl:hasDbXref UMLS:C3890660 ; oboInOwl:hasExactSynonym "NRAV", "dynll1 antisense RNA 1", "lncrna nrav", @@ -342019,28 +356424,31 @@ OMIM:616207 a owl:Class ; "negative regulator of antiviral response, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506668 ; - skos:exactMatch HGNC_symbol:NRAV ; + skos:exactMatch UMLS:C3890660, + HGNC:48588, + HGNC_symbol:NRAV ; biolink:category biolink:Gene . OMIM:616209 a owl:Class ; rdfs:label "myopathy, isolated mitochondrial, autosomal dominant" ; IAO:0000142 PMID:25193783, PMID:9324076 ; - oboInOwl:hasDbXref UMLS:C4015513 ; oboInOwl:hasExactSynonym "IMMD", "myopathy, isolated mitochondrial, autosomal dominant" ; + skos:exactMatch UMLS:C4015513 ; biolink:category biolink:Disease . OMIM:616210 a owl:Class ; rdfs:label "C4ORF46" ; IAO:0000142 PMID:25059753 ; - oboInOwl:hasDbXref UMLS:C2681224 ; oboInOwl:hasExactSynonym "C4ORF46", "chromosome 4 open reading frame 46", "renal cancer differentiation gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201725 ; - skos:exactMatch HGNC_symbol:C4orf46 ; + skos:exactMatch UMLS:C2681224, + HGNC:27320, + HGNC_symbol:C4orf46 ; biolink:category biolink:Gene . OMIM:616211 a owl:Class ; @@ -342048,12 +356456,12 @@ OMIM:616211 a owl:Class ; IAO:0000142 PMID:19500159, PMID:24456803, PMID:25411445 ; - oboInOwl:hasDbXref UMLS:C4015519, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE28", "developmental and epileptic encephalopathy 28", "epileptic encephalopathy, early infantile, 28" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4015519, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:616213 a owl:Class ; @@ -342067,7 +356475,6 @@ OMIM:616213 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr6q14.3 ; RO:0003303 OMIM:619188 ; - oboInOwl:hasDbXref UMLS:C1425506 ; oboInOwl:hasExactSynonym "ZNF292", "kiaa0530", "zfp292", @@ -342075,7 +356482,9 @@ OMIM:616213 a owl:Class ; "zn16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23036 ; - skos:exactMatch HGNC_symbol:ZNF292 ; + skos:exactMatch UMLS:C1425506, + HGNC:18410, + HGNC_symbol:ZNF292 ; biolink:category biolink:Gene . OMIM:616214 a owl:Class ; @@ -342094,8 +356503,8 @@ OMIM:616214 a owl:Class ; PMID:7350441, PMID:815812, PMID:9141561 ; - oboInOwl:hasDbXref UMLS:C0342283 ; oboInOwl:hasExactSynonym "hyperproinsulinemia" ; + skos:exactMatch UMLS:C0342283 ; biolink:category biolink:Disease . OMIM:616215 a owl:Class ; @@ -342112,44 +356521,46 @@ OMIM:616215 a owl:Class ; PMID:30657919 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:616229 ; - oboInOwl:hasDbXref UMLS:C1425827, - UMLS:C4015610 ; oboInOwl:hasExactSynonym "CREB3L1", "camp response element-binding protein 3-like 1", "old astrocyte specifically induced substance" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90993 ; - skos:exactMatch HGNC_symbol:CREB3L1 ; + skos:exactMatch UMLS:C1425827, + UMLS:C4015610, + HGNC:18856, + HGNC_symbol:CREB3L1 ; biolink:category biolink:Gene . OMIM:616217 a owl:Class ; rdfs:label "nephronophthisis 19" ; IAO:0000142 PMID:25557784 ; - oboInOwl:hasDbXref UMLS:C4015542 ; oboInOwl:hasExactSynonym "NPHP19", "nephronophthisis 19" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C4015542 ; biolink:category biolink:Disease . OMIM:616218 a owl:Class ; rdfs:label "TBC1D13" ; IAO:0000142 PMID:22762500 ; - oboInOwl:hasDbXref UMLS:C1428502 ; oboInOwl:hasExactSynonym "TBC1D13", "tbc1 domain family, member 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54662 ; - skos:exactMatch HGNC_symbol:TBC1D13 ; + skos:exactMatch UMLS:C1428502, + HGNC:25571, + HGNC_symbol:TBC1D13 ; biolink:category biolink:Gene . OMIM:616220 a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 9" ; IAO:0000142 PMID:25557779 ; - oboInOwl:hasDbXref UMLS:C4015555 ; oboInOwl:hasExactSynonym "FSGS9", "focal segmental glomerulosclerosis 9", "glomerulosclerosis, focal segmental, 9" ; rdfs:subClassOf OMIMPS:603278 ; + skos:exactMatch UMLS:C4015555 ; biolink:category biolink:Disease . OMIM:616222 a owl:Class ; @@ -342160,13 +356571,13 @@ OMIM:616222 a owl:Class ; PMID:24891339, PMID:32592473 ; RO:0002525 CHR:9606chr14q32 ; - oboInOwl:hasDbXref UMLS:C4015558, + oboInOwl:hasExactSynonym "temple syndrome", + "uniparental disomy, maternal, chromosome 14" ; + skos:exactMatch UMLS:C4015558, ORPHA:254516, ORPHA:254525, ORPHA:254531, ORPHA:96184 ; - oboInOwl:hasExactSynonym "temple syndrome", - "uniparental disomy, maternal, chromosome 14" ; biolink:category biolink:Disease . OMIM:616223 a owl:Class ; @@ -342175,28 +356586,30 @@ OMIM:616223 a owl:Class ; PMID:23150577, PMID:24262987, PMID:25417115 ; - oboInOwl:hasDbXref UMLS:C3469759 ; oboInOwl:hasExactSynonym "ANGPTL8", "angiopoietin-like 8", "chromosome 19 open reading frame 80", "lipase inhibition protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55908 ; - skos:exactMatch HGNC_symbol:ANGPTL8 ; + skos:exactMatch UMLS:C3469759, + HGNC:24933, + HGNC_symbol:ANGPTL8 ; biolink:category biolink:Gene . OMIM:616225 a owl:Class ; rdfs:label "ATG2A" ; IAO:0000142 PMID:22219374, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C2239907 ; oboInOwl:hasExactSynonym "ATG2A", "autophagy 2, s. cerevisiae, homolog of, a", "autophagy-related 2a", "kiaa0404" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23130 ; - skos:exactMatch HGNC_symbol:ATG2A ; + skos:exactMatch UMLS:C2239907, + HGNC:29028, + HGNC_symbol:ATG2A ; biolink:category biolink:Gene . OMIM:616226 a owl:Class ; @@ -342204,35 +356617,37 @@ OMIM:616226 a owl:Class ; IAO:0000142 PMID:19197948, PMID:22219374, PMID:25356988 ; - oboInOwl:hasDbXref UMLS:C1426760 ; oboInOwl:hasExactSynonym "ATG2B", "autophagy 2, s. cerevisiae, homolog of, B", "autophagy-related 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55102 ; - skos:exactMatch HGNC_symbol:ATG2B ; + skos:exactMatch UMLS:C1426760, + HGNC:20187, + HGNC_symbol:ATG2B ; biolink:category biolink:Gene . OMIM:616227 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 15" ; IAO:0000142 PMID:23404334 ; - oboInOwl:hasDbXref UMLS:C4015596 ; oboInOwl:hasExactSynonym "CMS15", "myasthenic syndrome, congenital, 15", "myasthenic syndrome, congenital, without tubular aggregates" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4015596 ; biolink:category biolink:Disease . OMIM:616232 a owl:Class ; rdfs:label "MEIKIN" ; IAO:0000142 PMID:25533956 ; - oboInOwl:hasDbXref UMLS:C3891013 ; oboInOwl:hasExactSynonym "MEIKIN", "meiosis-specific kinetochore protein", "meiotic kinetochore factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728637 ; - skos:exactMatch HGNC_symbol:MEIKIN ; + skos:exactMatch UMLS:C3891013, + HGNC:51253, + HGNC_symbol:MEIKIN ; biolink:category biolink:Gene . OMIM:616233 a owl:Class ; @@ -342242,38 +356657,41 @@ OMIM:616233 a owl:Class ; OMIM:616234 a owl:Class ; rdfs:label "WDCP" ; IAO:0000142 PMID:25469238 ; - oboInOwl:hasDbXref UMLS:C1824110 ; oboInOwl:hasExactSynonym "WDCP", "chromosome 2 open reading frame 44", "wd repeat- and coiled-coil-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80304 ; - skos:exactMatch HGNC_symbol:WDCP ; + skos:exactMatch UMLS:C1824110, + HGNC:26157, + HGNC_symbol:WDCP ; biolink:category biolink:Gene . OMIM:616235 a owl:Class ; rdfs:label "KATNBL1" ; IAO:0000142 PMID:19963362, PMID:21372175 ; - oboInOwl:hasDbXref UMLS:C1539057 ; oboInOwl:hasExactSynonym "KATNBL1", "chromosome 15 open reading frame 29", "katanin, p80 subunit, b-like 1", "katnb1-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79768 ; - skos:exactMatch HGNC_symbol:KATNBL1 ; + skos:exactMatch UMLS:C1539057, + HGNC:26199, + HGNC_symbol:KATNBL1 ; biolink:category biolink:Gene . OMIM:616236 a owl:Class ; rdfs:label "CHADL" ; IAO:0000142 PMID:25451920 ; - oboInOwl:hasDbXref UMLS:C2239298 ; oboInOwl:hasExactSynonym "CHADL", "chondroadherin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150356 ; - skos:exactMatch HGNC_symbol:CHADL ; + skos:exactMatch UMLS:C2239298, + HGNC:25165, + HGNC_symbol:CHADL ; biolink:category biolink:Gene . OMIM:616237 a owl:Class ; @@ -342281,7 +356699,6 @@ OMIM:616237 a owl:Class ; IAO:0000142 PMID:11214970, PMID:17984326, PMID:24788352 ; - oboInOwl:hasDbXref UMLS:C1428846 ; oboInOwl:hasExactSynonym "KNDC1", "kiaa1768", "kinase noncatalytic c-lobe domain-containing protein 1", @@ -342290,26 +356707,27 @@ OMIM:616237 a owl:Class ; "very kind protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85442 ; - skos:exactMatch HGNC_symbol:KNDC1 ; + skos:exactMatch UMLS:C1428846, + HGNC:29374, + HGNC_symbol:KNDC1 ; biolink:category biolink:Gene . OMIM:616238 a owl:Class ; rdfs:label "ZBTB49" ; IAO:0000142 PMID:25245946 ; - oboInOwl:hasDbXref UMLS:C1426504 ; oboInOwl:hasExactSynonym "ZBTB49", "zinc finger protein 509", "zinc finger- and btb domain-containing protein 49" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166793 ; - skos:exactMatch HGNC_symbol:ZBTB49 ; + skos:exactMatch UMLS:C1426504, + HGNC:19883, + HGNC_symbol:ZBTB49 ; biolink:category biolink:Gene . OMIM:616240 a owl:Class ; rdfs:label "OLMALINC" ; IAO:0000142 PMID:25575711 ; - oboInOwl:hasDbXref UMLS:C3470628, - UMLS:C4015670 ; oboInOwl:hasExactSynonym "OLMALINC", "lincrna olmalinc", "long intergenic noncoding RNA 263", @@ -342317,20 +356735,24 @@ OMIM:616240 a owl:Class ; "olmalinc antisense RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90271 ; - skos:exactMatch HGNC_symbol:OLMALINC ; + skos:exactMatch UMLS:C3470628, + UMLS:C4015670, + HGNC:28060, + HGNC_symbol:OLMALINC ; biolink:category biolink:Gene . OMIM:616241 a owl:Class ; rdfs:label "METRNL" ; IAO:0000142 PMID:24393292, PMID:24906147 ; - oboInOwl:hasDbXref UMLS:C1537686 ; oboInOwl:hasExactSynonym "METRNL", "meteorin-like protein", "subfatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284207 ; - skos:exactMatch HGNC_symbol:METRNL ; + skos:exactMatch UMLS:C1537686, + HGNC:27584, + HGNC_symbol:METRNL ; biolink:category biolink:Gene . OMIM:616242 a owl:Class ; @@ -342338,26 +356760,28 @@ OMIM:616242 a owl:Class ; IAO:0000142 PMID:24454821, PMID:30220460, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1539979 ; oboInOwl:hasExactSynonym "TMCC1", "kiaa0779", "transmembrane and coiled-coil domain family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23023 ; - skos:exactMatch HGNC_symbol:TMCC1 ; + skos:exactMatch UMLS:C1539979, + HGNC:29116, + HGNC_symbol:TMCC1 ; biolink:category biolink:Gene . OMIM:616243 a owl:Class ; rdfs:label "TMEM131L" ; IAO:0000142 PMID:10231032, PMID:23690469 ; - oboInOwl:hasDbXref UMLS:C1825675 ; oboInOwl:hasExactSynonym "TMEM131L", "kiaa0922", "transmembrane protein 131-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23240 ; - skos:exactMatch HGNC_symbol:TMEM131L ; + skos:exactMatch UMLS:C1825675, + HGNC:29146, + HGNC_symbol:TMEM131L ; biolink:category biolink:Gene . OMIM:616244 a owl:Class ; @@ -342371,18 +356795,18 @@ OMIM:616244 a owl:Class ; PMID:32068847 ; RO:0002525 CHR:9606chr7p11.2 ; RO:0003303 OMIM:616710 ; - oboInOwl:hasDbXref UMLS:C1427670 ; oboInOwl:hasExactSynonym "CHCHD2", "coiled-coil-helix-coiled-coil-helix domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51142 ; - skos:exactMatch HGNC_symbol:CHCHD2 ; + skos:exactMatch UMLS:C1427670, + HGNC:21645, + HGNC_symbol:CHCHD2 ; biolink:category biolink:Gene . OMIM:616245 a owl:Class ; rdfs:label "EMC4" ; IAO:0000142 PMID:18586032 ; - oboInOwl:hasDbXref UMLS:C1823345 ; oboInOwl:hasExactSynonym "EMC4", "endoplasmic reticulum membrane protein complex, subunit 4", "er membrane protein complex, subunit 4", @@ -342390,20 +356814,23 @@ OMIM:616245 a owl:Class ; "transmembrane protein 85" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51234 ; - skos:exactMatch HGNC_symbol:EMC4 ; + skos:exactMatch UMLS:C1823345, + HGNC:28032, + HGNC_symbol:EMC4 ; biolink:category biolink:Gene . OMIM:616246 a owl:Class ; rdfs:label "MRLN" ; IAO:0000142 PMID:25640239 ; - oboInOwl:hasDbXref UMLS:C3815103 ; oboInOwl:hasExactSynonym "MRLN", "linc00948", "mln", "myoregulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507027 ; - skos:exactMatch HGNC_symbol:MRLN ; + skos:exactMatch UMLS:C3815103, + HGNC:48649, + HGNC_symbol:MRLN ; biolink:category biolink:Gene . OMIM:616247 a owl:Class ; @@ -342413,50 +356840,53 @@ OMIM:616247 a owl:Class ; PMID:24076290, PMID:26969752, PMID:31170290 ; - oboInOwl:hasDbXref UMLS:C4015671, - ORPHA:101016, - ORPHA:768 ; oboInOwl:hasExactSynonym "LQT14", "long qt syndrome 14" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C4015671, + ORPHA:101016, + ORPHA:768 ; biolink:category biolink:Disease . OMIM:616250 a owl:Class ; rdfs:label "NWD1" ; IAO:0000142 PMID:24681825 ; - oboInOwl:hasDbXref UMLS:C2239789 ; oboInOwl:hasExactSynonym "NWD1", "nacht domain- and wd repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284434 ; - skos:exactMatch HGNC_symbol:NWD1 ; + skos:exactMatch UMLS:C2239789, + HGNC:27619, + HGNC_symbol:NWD1 ; biolink:category biolink:Gene . OMIM:616251 a owl:Class ; rdfs:label "TCAF1" ; IAO:0000142 PMID:25559186, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C2239417 ; oboInOwl:hasExactSynonym "TCAF1", "family with sequence similarity 115, member a", "kiaa0738", "trpm8 channel-associated factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9747 ; - skos:exactMatch HGNC_symbol:TCAF1 ; + skos:exactMatch UMLS:C2239417, + HGNC:22201, + HGNC_symbol:TCAF1 ; biolink:category biolink:Gene . OMIM:616252 a owl:Class ; rdfs:label "TCAF2" ; IAO:0000142 PMID:25559186 ; - oboInOwl:hasDbXref UMLS:C2239435 ; oboInOwl:hasExactSynonym "TCAF2", "family with sequence similarity 115, member c", "family with sequence similarity 139, member a", "trpm8 channel-associated factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285966 ; - skos:exactMatch HGNC_symbol:TCAF2 ; + skos:exactMatch UMLS:C2239435, + HGNC:26878, + HGNC_symbol:TCAF2 ; biolink:category biolink:Gene . OMIM:616253 a owl:Class ; @@ -342469,14 +356899,15 @@ OMIM:616253 a owl:Class ; PMID:9398437 ; RO:0002525 CHR:9606chr4q12 ; RO:0003303 OMIM:618646 ; - oboInOwl:hasDbXref UMLS:C2239511, - UMLS:C5231440 ; oboInOwl:hasExactSynonym "GSX2", "genetic-screened homeobox 2", "gs homeobox 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170825 ; - skos:exactMatch HGNC_symbol:GSX2 ; + skos:exactMatch UMLS:C2239511, + UMLS:C5231440, + HGNC:24959, + HGNC_symbol:GSX2 ; biolink:category biolink:Gene . OMIM:616254 a owl:Class ; @@ -342488,49 +356919,52 @@ OMIM:616254 a owl:Class ; PMID:7835694 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:619813 ; - oboInOwl:hasDbXref UMLS:C1824754 ; oboInOwl:hasExactSynonym "CLPB", "caseinolytic peptidase B", "clpb, e. coli, homolog of", "suppressor of potassium transport defect 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81570 ; - skos:exactMatch HGNC_symbol:CLPB ; + skos:exactMatch UMLS:C1824754, + HGNC:30664, + HGNC_symbol:CLPB ; biolink:category biolink:Gene . OMIM:616256 a owl:Class ; rdfs:label "CLEC4G" ; IAO:0000142 PMID:14711836 ; - oboInOwl:hasDbXref UMLS:C1539098 ; oboInOwl:hasExactSynonym "CLEC4G", "c-type lectin domain family 4, member g", "liver and lymph node sinusoidal endothelial cell c-type lectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339390 ; - skos:exactMatch HGNC_symbol:CLEC4G ; + skos:exactMatch UMLS:C1539098, + HGNC:24591, + HGNC_symbol:CLEC4G ; biolink:category biolink:Gene . OMIM:616257 a owl:Class ; rdfs:label "FKBP9" ; IAO:0000142 PMID:10524204 ; - oboInOwl:hasDbXref UMLS:C1414631 ; oboInOwl:hasExactSynonym "FKBP9", "fk506-binding protein 9", "fk506-binding protein, 60-kd", "fk506-binding protein, 63-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11328 ; - skos:exactMatch HGNC_symbol:FKBP9 ; + skos:exactMatch UMLS:C1414631, + HGNC:3725, + HGNC_symbol:FKBP9 ; biolink:category biolink:Gene . OMIM:616258 a owl:Class ; rdfs:label "meckel syndrome 12" ; IAO:0000142 PMID:23308235, PMID:24128419 ; - oboInOwl:hasDbXref UMLS:C4015701 ; oboInOwl:hasExactSynonym "MKS12", "meckel syndrome 12" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C4015701 ; biolink:category biolink:Disease . OMIM:616259 a owl:Class ; @@ -342548,14 +356982,15 @@ OMIM:616259 a owl:Class ; PMID:25470045, PMID:33087932, PMID:9590281 ; - oboInOwl:hasDbXref UMLS:C3469836 ; oboInOwl:hasExactSynonym "SNHG14", "large noncoding antisense transcript, mouse, homolog of", "small nucleolar RNA host gene 14", "ube3a antisense transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:104472715 ; - skos:exactMatch HGNC_symbol:SNHG14 ; + skos:exactMatch UMLS:C3469836, + HGNC:37462, + HGNC_symbol:SNHG14 ; biolink:category biolink:Gene . OMIM:616261 a owl:Class ; @@ -342565,32 +357000,33 @@ OMIM:616261 a owl:Class ; PMID:30778726 ; RO:0002525 CHR:9606chr7q22.3 ; RO:0003303 OMIM:618342 ; - oboInOwl:hasDbXref UMLS:C1826739 ; oboInOwl:hasExactSynonym "PUS7", "kiaa1897", "pseudouridylate synthase 7, putative" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54517 ; - skos:exactMatch HGNC_symbol:PUS7 ; + skos:exactMatch UMLS:C1826739, + HGNC:26033, + HGNC_symbol:PUS7 ; biolink:category biolink:Gene . OMIM:616262 a owl:Class ; rdfs:label "KLHL21" ; IAO:0000142 PMID:19995937, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1537499 ; oboInOwl:hasExactSynonym "KLHL21", "kelch-like 21", "kiaa0469" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9903 ; - skos:exactMatch HGNC_symbol:KLHL21 ; + skos:exactMatch UMLS:C1537499, + HGNC:29041, + HGNC_symbol:KLHL21 ; biolink:category biolink:Gene . OMIM:616264 a owl:Class ; rdfs:label "MAFTRR" ; IAO:0000142 PMID:25621826 ; - oboInOwl:hasDbXref UMLS:C3891017 ; oboInOwl:hasExactSynonym "MAFTRR", "lincmaf4", "lincrna maf4", @@ -342598,107 +357034,114 @@ OMIM:616264 a owl:Class ; "maf transcriptional regulator rna, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:102467146 ; - skos:exactMatch HGNC_symbol:MAFTRR ; + skos:exactMatch UMLS:C3891017, + HGNC:51525, + HGNC_symbol:MAFTRR ; biolink:category biolink:Gene . OMIM:616266 a owl:Class ; rdfs:label "congenital contractures of the limbs and face, hypotonia, and developmental delay" ; IAO:0000142 PMID:25683120 ; - oboInOwl:hasDbXref UMLS:C4225398 ; oboInOwl:hasExactSynonym "CLIFAHDD", "congenital contractures of the limbs and face, hypotonia, and developmental delay" ; + skos:exactMatch UMLS:C4225398 ; biolink:category biolink:Disease . OMIM:616267 a owl:Class ; rdfs:label "ataxia-oculomotor apraxia 4" ; IAO:0000142 PMID:25728773 ; - oboInOwl:hasDbXref UMLS:C4225397, - ORPHA:459033 ; oboInOwl:hasExactSynonym "AOA4", "ataxia-oculomotor apraxia 4" ; + skos:exactMatch UMLS:C4225397, + ORPHA:459033 ; biolink:category biolink:Disease . OMIM:616271 a owl:Class ; - rdfs:label "3-methylglutaconic aciduria, iia 7" ; + rdfs:label "3-methylglutaconic aciduria, iia 7b" ; IAO:0000142 PMID:25597510, PMID:25597511, PMID:25650066 ; - oboInOwl:hasDbXref UMLS:C4225393 ; - oboInOwl:hasExactSynonym "3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia", - "3-methylglutaconic aciduria, iia 7", - "MGCA7" ; + oboInOwl:hasExactSynonym "3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia, autosomal recessive", + "3-methylglutaconic aciduria, iia 7b", + "MGCA7B", + "mgca7" ; rdfs:subClassOf OMIMPS:250950 ; + skos:exactMatch UMLS:C4225393 ; biolink:category biolink:Disease . OMIM:616272 a owl:Class ; rdfs:label "MIR520G" ; IAO:0000142 PMID:25436421 ; - oboInOwl:hasDbXref UMLS:C1826102 ; oboInOwl:hasExactSynonym "MIR520G", "micro RNA 520g", "mirna520g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574484 ; - skos:exactMatch HGNC_symbol:MIR520G ; + skos:exactMatch UMLS:C1826102, + HGNC:32116, + HGNC_symbol:MIR520G ; biolink:category biolink:Gene . OMIM:616273 a owl:Class ; rdfs:label "PCAT29" ; IAO:0000142 PMID:25030374 ; - oboInOwl:hasDbXref UMLS:C3890502 ; oboInOwl:hasExactSynonym "PCAT29", "lncrna pcat29", "long noncoding RNA pcat29", "prostate cancer-associated transcript 29, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:104472713 ; - skos:exactMatch HGNC_symbol:PCAT29 ; + skos:exactMatch UMLS:C3890502, + HGNC:50895, + HGNC_symbol:PCAT29 ; biolink:category biolink:Gene . OMIM:616274 a owl:Class ; rdfs:label "MIR4276" ; IAO:0000142 PMID:16381832, PMID:25203353 ; - oboInOwl:hasDbXref UMLS:C2829840 ; oboInOwl:hasExactSynonym "MIR4276", "micro RNA 4276", "mirna4276" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100423042 ; - skos:exactMatch HGNC_symbol:MIR4276 ; + skos:exactMatch UMLS:C2829840, + HGNC:38232, + HGNC_symbol:MIR4276 ; biolink:category biolink:Gene . OMIM:616275 a owl:Class ; rdfs:label "FAM136A" ; IAO:0000142 PMID:25305078 ; - oboInOwl:hasDbXref UMLS:C2239428 ; oboInOwl:hasExactSynonym "FAM136A", "family with sequence similarity 136, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84908 ; - skos:exactMatch HGNC_symbol:FAM136A ; + skos:exactMatch UMLS:C2239428, + HGNC:25911, + HGNC_symbol:FAM136A ; biolink:category biolink:Gene . OMIM:616279 a owl:Class ; rdfs:label "cataract 43" ; IAO:0000142 PMID:19182255, PMID:24549050 ; - oboInOwl:hasDbXref UMLS:C4225389 ; oboInOwl:hasExactSynonym "CTRCT43", "cataract 43" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C4225389 ; biolink:category biolink:Disease . OMIM:616280 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2u" ; IAO:0000142 PMID:23729695, PMID:24354524 ; - oboInOwl:hasDbXref UMLS:C4084821 ; oboInOwl:hasExactSynonym "CMT2U", "charcot-marie-tooth disease, axonal, iia 2u", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2u", "charcot-marie-tooth neuropathy, iia 2u" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4084821 ; biolink:category biolink:Disease . OMIM:616283 a owl:Class ; @@ -342710,13 +357153,14 @@ OMIM:616283 a owl:Class ; PMID:32056211 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:617051 ; - oboInOwl:hasDbXref UMLS:C1538753, - UMLS:C4310745 ; oboInOwl:hasExactSynonym "PUS3", "pseudouridylate synthase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83480 ; - skos:exactMatch HGNC_symbol:PUS3 ; + skos:exactMatch UMLS:C1538753, + UMLS:C4310745, + HGNC:25461, + HGNC_symbol:PUS3 ; biolink:category biolink:Gene . OMIM:616284 a owl:Class ; @@ -342729,14 +357173,15 @@ OMIM:616284 a owl:Class ; PMID:29758285 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:618084 ; - oboInOwl:hasDbXref UMLS:C2239455 ; oboInOwl:hasExactSynonym "FLG2", "filaggrin 2", "filaggrin family member 2", "ifapsoriasin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388698 ; - skos:exactMatch HGNC_symbol:FLG2 ; + skos:exactMatch UMLS:C2239455, + HGNC:33276, + HGNC_symbol:FLG2 ; biolink:category biolink:Gene . OMIM:616285 a owl:Class ; @@ -342744,13 +357189,14 @@ OMIM:616285 a owl:Class ; IAO:0000142 PMID:11572484, PMID:12684686, PMID:22275430 ; - oboInOwl:hasDbXref UMLS:C1425407 ; oboInOwl:hasExactSynonym "FMNL2", "formin-like 2", "kiaa1902" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114793 ; - skos:exactMatch HGNC_symbol:FMNL2 ; + skos:exactMatch UMLS:C1425407, + HGNC:18267, + HGNC_symbol:FMNL2 ; biolink:category biolink:Gene . OMIM:616288 a owl:Class ; @@ -342758,46 +357204,49 @@ OMIM:616288 a owl:Class ; IAO:0000142 PMID:12684686, PMID:20862687, PMID:22275430 ; - oboInOwl:hasDbXref UMLS:C1428202 ; oboInOwl:hasExactSynonym "FMNL3", "formin-like 3", "frl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91010 ; - skos:exactMatch HGNC_symbol:FMNL3 ; + skos:exactMatch UMLS:C1428202, + HGNC:23698, + HGNC_symbol:FMNL3 ; biolink:category biolink:Gene . OMIM:616289 a owl:Class ; rdfs:label "optic atrophy 9" ; IAO:0000142 PMID:25351951 ; - oboInOwl:hasDbXref UMLS:C4225384, - ORPHA:98676 ; oboInOwl:hasExactSynonym "OPA9", "optic atrophy 9" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C4225384, + ORPHA:98676 ; biolink:category biolink:Disease . OMIM:616290 a owl:Class ; rdfs:label "ZNF658" ; IAO:0000142 PMID:25582195 ; - oboInOwl:hasDbXref UMLS:C1538224 ; oboInOwl:hasExactSynonym "ZNF658", "zinc finger protein 658" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26149 ; - skos:exactMatch HGNC_symbol:ZNF658 ; + skos:exactMatch UMLS:C1538224, + HGNC:25226, + HGNC_symbol:ZNF658 ; biolink:category biolink:Gene . OMIM:616292 a owl:Class ; rdfs:label "SAXO1" ; IAO:0000142 PMID:25673876 ; - oboInOwl:hasDbXref UMLS:C1538361 ; oboInOwl:hasExactSynonym "SAXO1", "family with sequence similarity 154, member a", "stabilizer of axonemal microtubules 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158297 ; - skos:exactMatch HGNC_symbol:SAXO1 ; + skos:exactMatch UMLS:C1538361, + HGNC:28566, + HGNC_symbol:SAXO1 ; biolink:category biolink:Gene . OMIM:616293 a owl:Class ; @@ -342808,47 +357257,51 @@ OMIM:616293 a owl:Class ; PMID:21282207, PMID:27742573, PMID:29183042 ; - oboInOwl:hasDbXref UMLS:C1537378 ; oboInOwl:hasExactSynonym "HRNR", "hornerin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388697 ; - skos:exactMatch HGNC_symbol:HRNR ; + skos:exactMatch UMLS:C1537378, + HGNC:20846, + HGNC_symbol:HRNR ; biolink:category biolink:Gene . OMIM:616296 a owl:Class ; rdfs:label "MCTP1" ; IAO:0000142 PMID:15528213 ; - oboInOwl:hasDbXref UMLS:C1825954 ; oboInOwl:hasExactSynonym "MCTP1", "multiple c2 domains-containing transmembrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79772 ; - skos:exactMatch HGNC_symbol:MCTP1 ; + skos:exactMatch UMLS:C1825954, + HGNC:26183, + HGNC_symbol:MCTP1 ; biolink:category biolink:Gene . OMIM:616297 a owl:Class ; rdfs:label "MCTP2" ; IAO:0000142 PMID:15528213, PMID:23773997 ; - oboInOwl:hasDbXref UMLS:C1825955 ; oboInOwl:hasExactSynonym "MCTP2", "multiple c2 domains-containing transmembrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55784 ; - skos:exactMatch HGNC_symbol:MCTP2 ; + skos:exactMatch UMLS:C1825955, + HGNC:25636, + HGNC_symbol:MCTP2 ; biolink:category biolink:Gene . OMIM:616301 a owl:Class ; rdfs:label "CD300LD" ; IAO:0000142 PMID:22291008 ; - oboInOwl:hasDbXref UMLS:C2240359 ; oboInOwl:hasExactSynonym "CD300LD", "cd300 antigen-like family, member d", "cd300d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100131439 ; - skos:exactMatch HGNC_symbol:CD300LD ; + skos:exactMatch UMLS:C2240359, + HGNC:16848, + HGNC_symbol:CD300LD ; biolink:category biolink:Gene . OMIM:616302 a owl:Class ; @@ -342857,35 +357310,37 @@ OMIM:616302 a owl:Class ; PMID:15202027, PMID:15289879, PMID:30700909 ; - oboInOwl:hasDbXref UMLS:C1428094 ; oboInOwl:hasExactSynonym "FOXK1", "forkhead box k1", "myocyte nuclear factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221937 ; - skos:exactMatch HGNC_symbol:FOXK1 ; + skos:exactMatch UMLS:C1428094, + HGNC:23480, + HGNC_symbol:FOXK1 ; biolink:category biolink:Gene . OMIM:616303 a owl:Class ; rdfs:label "WDR91" ; IAO:0000142 PMID:26783301 ; - oboInOwl:hasDbXref UMLS:C2240178 ; oboInOwl:hasExactSynonym "WDR91", "sorf1, c. elegans, homolog of", "wd repeat-containing protein 91" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29062 ; - skos:exactMatch HGNC_symbol:WDR91 ; + skos:exactMatch UMLS:C2240178, + HGNC:24997, + HGNC_symbol:WDR91 ; biolink:category biolink:Gene . OMIM:616304 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 17" ; IAO:0000142 PMID:24234652, PMID:25319686 ; - oboInOwl:hasDbXref UMLS:C4225377 ; oboInOwl:hasExactSynonym "CMS17", "myasthenic syndrome, congenital, 17" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225377 ; biolink:category biolink:Disease . OMIM:616305 a owl:Class ; @@ -342896,30 +357351,31 @@ OMIM:616305 a owl:Class ; PMID:25388005 ; RO:0002525 CHR:9606chr10p13 ; RO:0003303 OMIM:616819 ; - oboInOwl:hasDbXref UMLS:C1539533 ; oboInOwl:hasExactSynonym "FRMD4A", "ferm domain-containing protein 4a", "kiaa1294" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55691 ; - skos:exactMatch HGNC_symbol:FRMD4A ; + skos:exactMatch UMLS:C1539533, + HGNC:25491, + HGNC_symbol:FRMD4A ; biolink:category biolink:Gene . OMIM:616306 a owl:Class ; rdfs:label "FSBP" ; IAO:0000142 PMID:20531236 ; - oboInOwl:hasDbXref UMLS:C3470332 ; oboInOwl:hasExactSynonym "FSBP", "fibrinogen silencer-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100861412 ; - skos:exactMatch HGNC_symbol:FSBP ; + skos:exactMatch UMLS:C3470332, + HGNC:43653, + HGNC_symbol:FSBP ; biolink:category biolink:Gene . OMIM:616308 a owl:Class ; rdfs:label "BGLT3" ; IAO:0000142 PMID:24837367 ; - oboInOwl:hasDbXref UMLS:C3890517 ; oboInOwl:hasExactSynonym "BGLT3", "beta-globin locus transcript 3, noncoding", "linc01083", @@ -342927,19 +357383,22 @@ OMIM:616308 a owl:Class ; "long noncoding RNA bgl3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:103344929 ; - skos:exactMatch HGNC_symbol:BGLT3 ; + skos:exactMatch UMLS:C3890517, + HGNC:49033, + HGNC_symbol:BGLT3 ; biolink:category biolink:Gene . OMIM:616309 a owl:Class ; rdfs:label "FRMD5" ; IAO:0000142 PMID:22846708, PMID:25448675 ; - oboInOwl:hasDbXref UMLS:C1825313 ; oboInOwl:hasExactSynonym "FRMD5", "ferm domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84978 ; - skos:exactMatch HGNC_symbol:FRMD5 ; + skos:exactMatch UMLS:C1825313, + HGNC:28214, + HGNC_symbol:FRMD5 ; biolink:category biolink:Gene . OMIM:616310 a owl:Class ; @@ -342947,22 +357406,24 @@ OMIM:616310 a owl:Class ; IAO:0000142 PMID:25721503, PMID:31883789, PMID:32554627 ; - oboInOwl:hasDbXref UMLS:C1538923 ; oboInOwl:hasExactSynonym "ARHGAP11B", "family with sequence similarity 7, member b1", "rho gtpase-activating protein 11b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89839 ; - skos:exactMatch HGNC_symbol:ARHGAP11B ; + skos:exactMatch UMLS:C1538923, + HGNC:15782, + HGNC_symbol:ARHGAP11B ; biolink:category biolink:Gene . OMIM:616311 a owl:Class ; - rdfs:label "mental retardation, autosomal dominant 33" ; + rdfs:label "intellectual developmental disorder, autosomal dominant 33" ; IAO:0000142 PMID:23832105 ; - oboInOwl:hasDbXref UMLS:C4225375 ; oboInOwl:hasExactSynonym "MRD33", + "intellectual developmental disorder, autosomal dominant 33", "mental retardation, autosomal dominant 33" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4225375 ; biolink:category biolink:Disease . OMIM:616312 a owl:Class ; @@ -342978,25 +357439,26 @@ OMIM:616312 a owl:Class ; PMID:4061486 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:619322 ; - oboInOwl:hasDbXref UMLS:C0220721, - UMLS:C1427448 ; oboInOwl:hasExactSynonym "LEMD2", "lem domain-containing protein 2", "lem2", "nuclear envelope transmembrane protein 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221496 ; - skos:exactMatch HGNC_symbol:LEMD2 ; + skos:exactMatch UMLS:C0220721, + UMLS:C1427448, + HGNC:21244, + HGNC_symbol:LEMD2 ; biolink:category biolink:Gene . OMIM:616314 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency" ; IAO:0000142 PMID:10562302, PMID:25792100 ; - oboInOwl:hasDbXref UMLS:C4225373 ; oboInOwl:hasExactSynonym "CMS2C", "myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225373 ; biolink:category biolink:Disease . OMIM:616315 a owl:Class ; @@ -343005,7 +357467,6 @@ OMIM:616315 a owl:Class ; PMID:25670504, PMID:25941166, PMID:27601633 ; - oboInOwl:hasDbXref UMLS:C1824297 ; oboInOwl:hasExactSynonym "PAXX", "chromosome 9 open reading frame 142", "paralog of xrcc4 and 40f", @@ -343013,7 +357474,9 @@ OMIM:616315 a owl:Class ; "xrcc4-like small protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286257 ; - skos:exactMatch HGNC_symbol:PAXX ; + skos:exactMatch UMLS:C1824297, + HGNC:27849, + HGNC_symbol:PAXX ; biolink:category biolink:Gene . OMIM:616316 a owl:Class ; @@ -343022,14 +357485,15 @@ OMIM:616316 a owl:Class ; PMID:21603883, PMID:23251525, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C2681496 ; oboInOwl:hasExactSynonym "FAM168A", "family with sequence similarity 168, member a", "kiaa0280", "tongue cancer chemotherapy resistance-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23201 ; - skos:exactMatch HGNC_symbol:FAM168A ; + skos:exactMatch UMLS:C2681496, + HGNC:28999, + HGNC_symbol:FAM168A ; biolink:category biolink:Gene . OMIM:616317 a owl:Class ; @@ -343037,39 +357501,42 @@ OMIM:616317 a owl:Class ; IAO:0000142 PMID:14612981, PMID:25528375, PMID:33022222 ; - oboInOwl:hasDbXref UMLS:C1427188 ; oboInOwl:hasExactSynonym "GDPD1", "glycerophosphodiester phosphodiesterase 4", "glycerophosphodiester phosphodiesterase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284161 ; - skos:exactMatch HGNC_symbol:GDPD1 ; + skos:exactMatch UMLS:C1427188, + HGNC:20883, + HGNC_symbol:GDPD1 ; biolink:category biolink:Gene . OMIM:616318 a owl:Class ; rdfs:label "GDPD3" ; IAO:0000142 PMID:25528375 ; - oboInOwl:hasDbXref UMLS:C1539557 ; oboInOwl:hasExactSynonym "GDPD3", "glycerophosphodiester phosphodiesterase 7", "glycerophosphodiester phosphodiesterase domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79153 ; - skos:exactMatch HGNC_symbol:GDPD3 ; + skos:exactMatch UMLS:C1539557, + HGNC:28638, + HGNC_symbol:GDPD3 ; biolink:category biolink:Gene . OMIM:616319 a owl:Class ; rdfs:label "RNF138" ; IAO:0000142 PMID:16714285, PMID:17990982 ; - oboInOwl:hasDbXref UMLS:C1425069 ; oboInOwl:hasExactSynonym "RNF138", "nemo-like kinase-associated ring finger protein", "nlk-associated ring finger protein", "ring finger protein 138" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51444 ; - skos:exactMatch HGNC_symbol:RNF138 ; + skos:exactMatch UMLS:C1425069, + HGNC:17765, + HGNC_symbol:RNF138 ; biolink:category biolink:Gene . OMIM:616320 a owl:Class ; @@ -343077,34 +357544,35 @@ OMIM:616320 a owl:Class ; IAO:0000142 PMID:15551868, PMID:21878618, PMID:25575590 ; - oboInOwl:hasDbXref UMLS:C1539384 ; oboInOwl:hasExactSynonym "FAHD1", "fah domain-containing protein 1", "flj36880", "fumarylacetoacetate hydrolase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81889 ; - skos:exactMatch HGNC_symbol:FAHD1 ; + skos:exactMatch UMLS:C1539384, + HGNC:14169, + HGNC_symbol:FAHD1 ; biolink:category biolink:Gene . OMIM:616321 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 3a, slow-channel" ; IAO:0000142 PMID:11782989, PMID:25792100 ; - oboInOwl:hasDbXref UMLS:C4225372 ; oboInOwl:hasExactSynonym "CMS3A", "myasthenic syndrome, congenital, 3a, slow-channel" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225372 ; biolink:category biolink:Disease . OMIM:616323 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency" ; IAO:0000142 PMID:16916845, PMID:25792100 ; - oboInOwl:hasDbXref UMLS:C4225370 ; oboInOwl:hasExactSynonym "CMS3C", "myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225370 ; biolink:category biolink:Disease . OMIM:616324 a owl:Class ; @@ -343115,10 +357583,10 @@ OMIM:616324 a owl:Class ; PMID:25792100, PMID:8232384, PMID:8755487 ; - oboInOwl:hasDbXref UMLS:C4225369 ; oboInOwl:hasExactSynonym "CMS4B", "myasthenic syndrome, congenital, 4b, fast-channel" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225369 ; biolink:category biolink:Disease . OMIM:616327 a owl:Class ; @@ -343130,7 +357598,6 @@ OMIM:616327 a owl:Class ; PMID:26340335 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:616579 ; - oboInOwl:hasDbXref UMLS:C2681145 ; oboInOwl:hasExactSynonym "CHAMP1", "camp", "chromosome 13 open reading frame 8", @@ -343139,45 +357606,47 @@ OMIM:616327 a owl:Class ; "zinc finger protein 828" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283489 ; - skos:exactMatch HGNC_symbol:CHAMP1 ; + skos:exactMatch UMLS:C2681145, + HGNC:20311, + HGNC_symbol:CHAMP1 ; biolink:category biolink:Gene . OMIM:616328 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:25800779 ; - oboInOwl:hasDbXref UMLS:C4225366 ; oboInOwl:hasExactSynonym "lincrna pinky", "long intergenic noncoding RNA pinky" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105447646 ; + skos:exactMatch UMLS:C4225366 ; biolink:category biolink:Gene . OMIM:616329 a owl:Class ; rdfs:label "maturity-onset diabetes of the young, iia 13" ; IAO:0000142 PMID:15784703, PMID:22701567 ; - oboInOwl:hasDbXref UMLS:C4225365 ; oboInOwl:hasExactSynonym "MODY13", "maturity-onset diabetes of the young, iia 13", "mody, iia 13" ; + skos:exactMatch UMLS:C4225365 ; biolink:category biolink:Disease . OMIM:616332 a owl:Class ; rdfs:label "ARMT1" ; IAO:0000142 PMID:25732820 ; - oboInOwl:hasDbXref UMLS:C1425146 ; oboInOwl:hasExactSynonym "ARMT1", "acidic residue methyltransferase 1", "chromosome 6 open reading frame 211" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79624 ; - skos:exactMatch HGNC_symbol:ARMT1 ; + skos:exactMatch UMLS:C1425146, + HGNC:17872, + HGNC_symbol:ARMT1 ; biolink:category biolink:Gene . OMIM:616333 a owl:Class ; rdfs:label "WSPAR" ; IAO:0000142 PMID:25842979 ; - oboInOwl:hasDbXref UMLS:C4085375 ; oboInOwl:hasExactSynonym "WSPAR", "lncrna wspar", "lnctcf7", @@ -343185,68 +357654,74 @@ OMIM:616333 a owl:Class ; "wnt signaling pathway activating noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105664404 ; - skos:exactMatch HGNC_symbol:WSPAR ; + skos:exactMatch UMLS:C4085375, + HGNC:51639, + HGNC_symbol:WSPAR ; biolink:category biolink:Gene . OMIM:616334 a owl:Class ; rdfs:label "TMEM100" ; IAO:0000142 PMID:22783020, PMID:25640077 ; - oboInOwl:hasDbXref UMLS:C1823360 ; oboInOwl:hasExactSynonym "TMEM100", "transmembrane protein 100" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55273 ; - skos:exactMatch HGNC_symbol:TMEM100 ; + skos:exactMatch UMLS:C1823360, + HGNC:25607, + HGNC_symbol:TMEM100 ; biolink:category biolink:Gene . OMIM:616336 a owl:Class ; rdfs:label "AKR1B15" ; IAO:0000142 PMID:25577493 ; - oboInOwl:hasDbXref UMLS:C2829647 ; oboInOwl:hasExactSynonym "AKR1B15", "akr1b10-like", "akr1r1b7", "aldo-keto reductase family 1, member b15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441282 ; - skos:exactMatch HGNC_symbol:AKR1B15 ; + skos:exactMatch UMLS:C2829647, + HGNC:37281, + HGNC_symbol:AKR1B15 ; biolink:category biolink:Gene . OMIM:616337 a owl:Class ; rdfs:label "SOCS4" ; IAO:0000142 PMID:15590694 ; - oboInOwl:hasDbXref UMLS:C1426213 ; oboInOwl:hasExactSynonym "SOCS4", "suppressor of cytokine signaling 4", "suppressor of cytokine signaling 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122809 ; - skos:exactMatch HGNC_symbol:SOCS4 ; + skos:exactMatch UMLS:C1426213, + HGNC:19392, + HGNC_symbol:SOCS4 ; biolink:category biolink:Gene . OMIM:616338 a owl:Class ; rdfs:label "SOX2OT" ; IAO:0000142 PMID:12612584, PMID:19767420 ; - oboInOwl:hasDbXref UMLS:C1426776 ; oboInOwl:hasExactSynonym "SOX2OT", "noncoding RNA 43", "sox2 overlapping transcript, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347689 ; - skos:exactMatch HGNC_symbol:SOX2-OT ; + skos:exactMatch UMLS:C1426776, + HGNC:20209, + HGNC_symbol:SOX2-OT ; biolink:category biolink:Gene . OMIM:616339 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 29" ; IAO:0000142 PMID:25817015 ; - oboInOwl:hasDbXref UMLS:C4225361, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE29", "developmental and epileptic encephalopathy 29", "epileptic encephalopathy, early infantile, 29" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4225361, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:616343 a owl:Class ; @@ -343254,7 +357729,6 @@ OMIM:616343 a owl:Class ; IAO:0000142 PMID:20673990, PMID:25789975, PMID:27378782 ; - oboInOwl:hasDbXref UMLS:C4085705 ; oboInOwl:hasExactSynonym "TP53COR1", "lincrna tp53cor1", "lincrna-p21", @@ -343262,44 +357736,49 @@ OMIM:616343 a owl:Class ; "tumor protein p53 pathway corepressor 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:102800311 ; - skos:exactMatch HGNC_symbol:TP53COR1 ; + skos:exactMatch UMLS:C4085705, + HGNC:43652, + HGNC_symbol:TP53COR1 ; biolink:category biolink:Gene . OMIM:616344 a owl:Class ; rdfs:label "TTC23L" ; - oboInOwl:hasDbXref UMLS:C2681083 ; oboInOwl:hasExactSynonym "TTC23L", "tetratricopeptide repeat domain-containing protein 23-like", "ttc23-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153657 ; - skos:exactMatch HGNC_symbol:TTC23L ; + skos:exactMatch UMLS:C2681083, + HGNC:26355, + HGNC_symbol:TTC23L ; biolink:category biolink:Gene . OMIM:616347 a owl:Class ; rdfs:label "PRDM11" ; IAO:0000142 PMID:24929828, PMID:25499759 ; - oboInOwl:hasDbXref UMLS:C1422333 ; oboInOwl:hasExactSynonym "PRDM11", "pfm8", "pr domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56981 ; - skos:exactMatch HGNC_symbol:PRDM11 ; + skos:exactMatch UMLS:C1422333, + HGNC:13996, + HGNC_symbol:PRDM11 ; biolink:category biolink:Gene . OMIM:616348 a owl:Class ; rdfs:label "ZNF695" ; IAO:0000142 PMID:24007497, PMID:25273507 ; - oboInOwl:hasDbXref UMLS:C1823995 ; oboInOwl:hasExactSynonym "ZNF695", "sbzf3", "zinc finger protein 695" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57116 ; - skos:exactMatch HGNC_symbol:ZNF695 ; + skos:exactMatch UMLS:C1823995, + HGNC:30954, + HGNC_symbol:ZNF695 ; biolink:category biolink:Gene . OMIM:616349 a owl:Class ; @@ -343309,20 +357788,20 @@ OMIM:616349 a owl:Class ; PMID:18559503, PMID:9211900, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1823080 ; oboInOwl:hasExactSynonym "SORBS2", "arg-binding protein 2", "kiaa0777", "sorbin and sh3 domains-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8470 ; - skos:exactMatch HGNC_symbol:SORBS2 ; + skos:exactMatch UMLS:C1823080, + HGNC:24098, + HGNC_symbol:SORBS2 ; biolink:category biolink:Gene . OMIM:616350 a owl:Class ; rdfs:label "PARTICL" ; IAO:0000142 PMID:25900080 ; - oboInOwl:hasDbXref UMLS:C4085054 ; oboInOwl:hasExactSynonym "PARTICL", "lncrna particl", "long noncoding RNA particl", @@ -343330,28 +357809,31 @@ OMIM:616350 a owl:Class ; "promoter of mat2a antisense radiation-induced circulating long noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100630918 ; - skos:exactMatch HGNC_symbol:PARTICL ; + skos:exactMatch UMLS:C4085054, + HGNC:50886, + HGNC_symbol:PARTICL ; biolink:category biolink:Gene . OMIM:616352 a owl:Class ; rdfs:label "ACBD6" ; IAO:0000142 PMID:18268358 ; - oboInOwl:hasDbXref UMLS:C1428044 ; oboInOwl:hasExactSynonym "ACBD6", "acyl-coa-binding domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84320 ; - skos:exactMatch HGNC_symbol:ACBD6 ; + skos:exactMatch UMLS:C1428044, + HGNC:23339, + HGNC_symbol:ACBD6 ; biolink:category biolink:Gene . OMIM:616353 a owl:Class ; rdfs:label "dyskeratosis congenita, autosomal recessive 6" ; IAO:0000142 PMID:25893599, PMID:26342108 ; - oboInOwl:hasDbXref UMLS:C4225356 ; oboInOwl:hasExactSynonym "DKCB6", "dyskeratosis congenita, autosomal recessive 6" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C4225356 ; biolink:category biolink:Disease . OMIM:616356 a owl:Class ; @@ -343359,7 +357841,6 @@ OMIM:616356 a owl:Class ; IAO:0000142 PMID:22289355, PMID:24631686, PMID:25908244 ; - oboInOwl:hasDbXref UMLS:C3470959 ; oboInOwl:hasExactSynonym "MIR31HG", "lncrna mir31hg", "loc554202", @@ -343368,20 +357849,23 @@ OMIM:616356 a owl:Class ; "mir31 host gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:554202 ; - skos:exactMatch HGNC_symbol:MIR31HG ; + skos:exactMatch UMLS:C3470959, + HGNC:37187, + HGNC_symbol:MIR31HG ; biolink:category biolink:Gene . OMIM:616358 a owl:Class ; rdfs:label "MIR379" ; IAO:0000142 PMID:18281269, PMID:25510864 ; - oboInOwl:hasDbXref UMLS:C1537900 ; oboInOwl:hasExactSynonym "MIR379", "micro RNA 379", "mirna379" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494328 ; - skos:exactMatch HGNC_symbol:MIR379 ; + skos:exactMatch UMLS:C1537900, + HGNC:31872, + HGNC_symbol:MIR379 ; biolink:category biolink:Gene . OMIM:616359 a owl:Class ; @@ -343391,37 +357875,40 @@ OMIM:616359 a owl:Class ; PMID:29044765 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:619028 ; - oboInOwl:hasDbXref UMLS:C1824777, - UMLS:C5436638 ; oboInOwl:hasExactSynonym "COQ5", "coenzyme q5, methyltransferase", "coq5, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84274 ; - skos:exactMatch HGNC_symbol:COQ5 ; + skos:exactMatch UMLS:C1824777, + UMLS:C5436638, + HGNC:28722, + HGNC_symbol:COQ5 ; biolink:category biolink:Gene . OMIM:616360 a owl:Class ; rdfs:label "TMEM135" ; IAO:0000142 PMID:18637193 ; - oboInOwl:hasDbXref UMLS:C1823398 ; oboInOwl:hasExactSynonym "TMEM135", "peroxisomal membrane protein 52", "transmembrane protein 135" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65084 ; - skos:exactMatch HGNC_symbol:TMEM135 ; + skos:exactMatch UMLS:C1823398, + HGNC:26167, + HGNC_symbol:TMEM135 ; biolink:category biolink:Gene . OMIM:616363 a owl:Class ; rdfs:label "SPRR4" ; IAO:0000142 PMID:11719550 ; - oboInOwl:hasDbXref UMLS:C1427965 ; oboInOwl:hasExactSynonym "SPRR4", "small proline-rich protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163778 ; - skos:exactMatch HGNC_symbol:SPRR4 ; + skos:exactMatch UMLS:C1427965, + HGNC:23173, + HGNC_symbol:SPRR4 ; biolink:category biolink:Gene . OMIM:616365 a owl:Class ; @@ -343432,8 +357919,6 @@ OMIM:616365 a owl:Class ; PMID:31960134 ; RO:0002525 CHR:9606chr12q23.1 ; RO:0003303 OMIM:618766 ; - oboInOwl:hasDbXref UMLS:C1539735, - UMLS:C5231494 ; oboInOwl:hasExactSynonym "SCYL2", "coated vesicle-associated kinase, 104-kd", "kiaa1360", @@ -343441,7 +357926,10 @@ OMIM:616365 a owl:Class ; "scy1-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55681 ; - skos:exactMatch HGNC_symbol:SCYL2 ; + skos:exactMatch UMLS:C1539735, + UMLS:C5231494, + HGNC:19286, + HGNC_symbol:SCYL2 ; biolink:category biolink:Gene . OMIM:616367 a owl:Class ; @@ -343449,9 +357937,9 @@ OMIM:616367 a owl:Class ; IAO:0000142 PMID:16116593, PMID:20583178, PMID:25772936 ; - oboInOwl:hasDbXref UMLS:C4225349 ; oboInOwl:hasExactSynonym "MFDA", "mandibulofacial dysostosis with alopecia" ; + skos:exactMatch UMLS:C4225349 ; biolink:category biolink:Disease . OMIM:616369 a owl:Class ; @@ -343462,14 +357950,15 @@ OMIM:616372 a owl:Class ; rdfs:label "DCAF4" ; IAO:0000142 PMID:16949367, PMID:25624462 ; - oboInOwl:hasDbXref UMLS:C1538075 ; oboInOwl:hasExactSynonym "DCAF4", "ddb1- and cul4-associated factor 4", "wd repeat-containing protein 21", "wdr21a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26094 ; - skos:exactMatch HGNC_symbol:DCAF4 ; + skos:exactMatch UMLS:C1538075, + HGNC:20229, + HGNC_symbol:DCAF4 ; biolink:category biolink:Gene . OMIM:616374 a owl:Class ; @@ -343477,20 +357966,20 @@ OMIM:616374 a owl:Class ; IAO:0000142 PMID:10997877, PMID:21914818, PMID:25600804 ; - oboInOwl:hasDbXref UMLS:C2681182 ; oboInOwl:hasExactSynonym "BEND3", "ben domain-containing protein 3", "kiaa1553" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57673 ; - skos:exactMatch HGNC_symbol:BEND3 ; + skos:exactMatch UMLS:C2681182, + HGNC:23040, + HGNC_symbol:BEND3 ; biolink:category biolink:Gene . OMIM:616375 a owl:Class ; rdfs:label "UNK" ; IAO:0000142 PMID:11214970, PMID:25737280 ; - oboInOwl:hasDbXref UMLS:C1823916 ; oboInOwl:hasExactSynonym "UNK", "kiaa1753", "unkempt", @@ -343498,69 +357987,76 @@ OMIM:616375 a owl:Class ; "zinc finger ccch domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85451 ; - skos:exactMatch HGNC_symbol:UNK ; + skos:exactMatch UMLS:C1823916, + HGNC:29369, + HGNC_symbol:UNK ; biolink:category biolink:Gene . OMIM:616376 a owl:Class ; rdfs:label "MIR656" ; IAO:0000142 PMID:18281269 ; - oboInOwl:hasDbXref UMLS:C1826235 ; oboInOwl:hasExactSynonym "MIR656", "micro RNA 656", "mirna656" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:724026 ; - skos:exactMatch HGNC_symbol:MIR656 ; + skos:exactMatch UMLS:C1826235, + HGNC:32912, + HGNC_symbol:MIR656 ; biolink:category biolink:Gene . OMIM:616377 a owl:Class ; rdfs:label "PRODH2" ; IAO:0000142 PMID:25697095 ; - oboInOwl:hasDbXref UMLS:C1424903 ; oboInOwl:hasExactSynonym "PRODH2", "hydroxyproline dehydrogenase", "hydroxyproline oxidase", "proline dehydrogenase (oxidase) 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58510 ; - skos:exactMatch HGNC_symbol:PRODH2 ; + skos:exactMatch UMLS:C1424903, + HGNC:17325, + HGNC_symbol:PRODH2 ; biolink:category biolink:Gene . OMIM:616378 a owl:Class ; rdfs:label "UBXN1" ; IAO:0000142 PMID:20351172, PMID:23545497 ; - oboInOwl:hasDbXref UMLS:C2681104 ; oboInOwl:hasExactSynonym "UBXN1", "sapk substrate protein 1", "ubx domain protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51035 ; - skos:exactMatch HGNC_symbol:UBXN1 ; + skos:exactMatch UMLS:C2681104, + HGNC:18402, + HGNC_symbol:UBXN1 ; biolink:category biolink:Gene . OMIM:616379 a owl:Class ; rdfs:label "UBXN7" ; IAO:0000142 PMID:22537386, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1823586 ; oboInOwl:hasExactSynonym "UBXN7", "kiaa0794", "ubx domain protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26043 ; - skos:exactMatch HGNC_symbol:UBXN7 ; + skos:exactMatch UMLS:C1823586, + HGNC:29119, + HGNC_symbol:UBXN7 ; biolink:category biolink:Gene . OMIM:616380 a owl:Class ; rdfs:label "LAMB4" ; IAO:0000142 PMID:25257191 ; - oboInOwl:hasDbXref UMLS:C1416784 ; oboInOwl:hasExactSynonym "LAMB4", "laminin, beta-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22798 ; - skos:exactMatch HGNC_symbol:LAMB4 ; + skos:exactMatch UMLS:C1416784, + HGNC:6491, + HGNC_symbol:LAMB4 ; biolink:category biolink:Gene . OMIM:616381 a owl:Class ; @@ -343569,12 +358065,13 @@ OMIM:616381 a owl:Class ; PMID:31488579 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:618674 ; - oboInOwl:hasDbXref UMLS:C1428463 ; oboInOwl:hasExactSynonym "ZCCHC8", "zinc finger cchc domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55596 ; - skos:exactMatch HGNC_symbol:ZCCHC8 ; + skos:exactMatch UMLS:C1428463, + HGNC:25265, + HGNC_symbol:ZCCHC8 ; biolink:category biolink:Gene . OMIM:616382 a owl:Class ; @@ -343582,51 +358079,55 @@ OMIM:616382 a owl:Class ; IAO:0000142 PMID:16141793, PMID:19858781, PMID:23756265 ; - oboInOwl:hasDbXref UMLS:C1823594 ; oboInOwl:hasExactSynonym "UGT2A3", "udp glucuronosyltransferase 2 family, member a3", "udp glucuronosyltransferase family 2, member a3", "uridine diphosphate glucuronosyltransferase 2 family, member a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79799 ; - skos:exactMatch HGNC_symbol:UGT2A3 ; + skos:exactMatch UMLS:C1823594, + HGNC:28528, + HGNC_symbol:UGT2A3 ; biolink:category biolink:Gene . OMIM:616383 a owl:Class ; rdfs:label "UGT3A1" ; IAO:0000142 PMID:16141793 ; - oboInOwl:hasDbXref UMLS:C1823595 ; oboInOwl:hasExactSynonym "UGT3A1", "udp glucuronosyltransferase 3 family, member a1", "uridine diphosphate glucuronosyltransferase 3 family, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133688 ; - skos:exactMatch HGNC_symbol:UGT3A1 ; + skos:exactMatch UMLS:C1823595, + HGNC:26625, + HGNC_symbol:UGT3A1 ; biolink:category biolink:Gene . OMIM:616384 a owl:Class ; rdfs:label "UGT3A2" ; IAO:0000142 PMID:16141793 ; - oboInOwl:hasDbXref UMLS:C1823596 ; oboInOwl:hasExactSynonym "UGT3A2", "udp glucuronosyltransferase 3 family, member a2", "uridine diphosphate glucuronosyltransferase 3 family, member a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:167127 ; - skos:exactMatch HGNC_symbol:UGT3A2 ; + skos:exactMatch UMLS:C1823596, + HGNC:27266, + HGNC_symbol:UGT3A2 ; biolink:category biolink:Gene . OMIM:616385 a owl:Class ; rdfs:label "LINC01018" ; IAO:0000142 PMID:25512078 ; - oboInOwl:hasDbXref UMLS:C3812940 ; oboInOwl:hasExactSynonym "LINC01018", "lincrna 1018", "long intergenic noncoding RNA 1018", "srhc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255167 ; - skos:exactMatch HGNC_symbol:LINC01018 ; + skos:exactMatch UMLS:C3812940, + HGNC:27394, + HGNC_symbol:LINC01018 ; biolink:category biolink:Gene . OMIM:616386 a owl:Class ; @@ -343635,68 +358136,72 @@ OMIM:616386 a owl:Class ; PMID:25983243 ; RO:0002525 CHR:9606chr22q12.3 ; RO:0003303 OMIM:616398 ; - oboInOwl:hasDbXref UMLS:C1537437 ; oboInOwl:hasExactSynonym "KCTD17", "potassium channel tetramerization domain-containing protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79734 ; - skos:exactMatch HGNC_symbol:KCTD17 ; + skos:exactMatch UMLS:C1537437, + HGNC:25705, + HGNC_symbol:KCTD17 ; biolink:category biolink:Gene . OMIM:616387 a owl:Class ; rdfs:label "DRAIC" ; IAO:0000142 PMID:25700553 ; - oboInOwl:hasDbXref UMLS:C3889562 ; oboInOwl:hasExactSynonym "DRAIC", "downregulated RNA 1n androgen-independent cells, noncoding", "lncrna draic", "long noncoding RNA draic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145837 ; - skos:exactMatch HGNC_symbol:DRAIC ; + skos:exactMatch UMLS:C3889562, + HGNC:27082, + HGNC_symbol:DRAIC ; biolink:category biolink:Gene . OMIM:616388 a owl:Class ; rdfs:label "UBTD1" ; IAO:0000142 PMID:24211586 ; - oboInOwl:hasDbXref UMLS:C1540155 ; oboInOwl:hasExactSynonym "UBTD1", "ubiquitin domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80019 ; - skos:exactMatch HGNC_symbol:UBTD1 ; + skos:exactMatch UMLS:C1540155, + HGNC:25683, + HGNC_symbol:UBTD1 ; biolink:category biolink:Gene . OMIM:616390 a owl:Class ; rdfs:label "trichothiodystrophy 2, photosensitive" ; IAO:0000142 PMID:18603627, PMID:9012405 ; - oboInOwl:hasDbXref UMLS:C4225344, - ORPHA:33364 ; oboInOwl:hasExactSynonym "TTD2", "trichothiodystrophy 2, photosensitive" ; rdfs:subClassOf OMIMPS:601675 ; + skos:exactMatch UMLS:C4225344, + ORPHA:33364 ; biolink:category biolink:Disease . OMIM:616391 a owl:Class ; rdfs:label "RANBP3L" ; IAO:0000142 PMID:25755279 ; - oboInOwl:hasDbXref UMLS:C1826765 ; oboInOwl:hasExactSynonym "RANBP3L", "ran-binding protein 3-like", "ranbp3-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:202151 ; - skos:exactMatch HGNC_symbol:RANBP3L ; + skos:exactMatch UMLS:C1826765, + HGNC:26353, + HGNC_symbol:RANBP3L ; biolink:category biolink:Gene . OMIM:616394 a owl:Class ; rdfs:label "retinitis pigmentosa 71" ; IAO:0000142 PMID:25168386 ; - oboInOwl:hasDbXref UMLS:C4225342 ; oboInOwl:hasExactSynonym "RP71", "retinitis pigmentosa 71" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4225342 ; biolink:category biolink:Disease . OMIM:616396 a owl:Class ; @@ -343705,25 +358210,27 @@ OMIM:616396 a owl:Class ; PMID:10653359, PMID:17215307, PMID:18650381 ; - oboInOwl:hasDbXref UMLS:C1425943 ; oboInOwl:hasExactSynonym "SCMH1", "scm polycomb group protein homolog 1", "sex comb on midleg, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22955 ; - skos:exactMatch HGNC_symbol:SCMH1 ; + skos:exactMatch UMLS:C1425943, + HGNC:19003, + HGNC_symbol:SCMH1 ; biolink:category biolink:Gene . OMIM:616397 a owl:Class ; rdfs:label "PXMP4" ; IAO:0000142 PMID:10366717 ; - oboInOwl:hasDbXref UMLS:C1423832 ; oboInOwl:hasExactSynonym "PXMP4", "peroxisomal membrane protein 4", "peroxisomal membrane protein, 24-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11264 ; - skos:exactMatch HGNC_symbol:PXMP4 ; + skos:exactMatch UMLS:C1423832, + HGNC:15920, + HGNC_symbol:PXMP4 ; biolink:category biolink:Gene . OMIM:616399 a owl:Class ; @@ -343731,18 +358238,18 @@ OMIM:616399 a owl:Class ; IAO:0000142 PMID:15655131, PMID:21349352, PMID:22457051 ; - oboInOwl:hasDbXref UMLS:C4225340 ; oboInOwl:hasExactSynonym "BRGDA9", "brugada syndrome 9" ; rdfs:subClassOf OMIMPS:601144 ; + skos:exactMatch UMLS:C4225340 ; biolink:category biolink:Disease . OMIM:616400 a owl:Class ; rdfs:label "palmoplantar keratoderma, nonepidermolytic, focal 2" ; IAO:0000142 PMID:25285920 ; - oboInOwl:hasDbXref UMLS:C4225339 ; oboInOwl:hasExactSynonym "FNEPPK2", "palmoplantar keratoderma, nonepidermolytic, focal 2" ; + skos:exactMatch UMLS:C4225339 ; biolink:category biolink:Disease . OMIM:616401 a owl:Class ; @@ -343750,25 +358257,27 @@ OMIM:616401 a owl:Class ; IAO:0000142 PMID:17576797, PMID:19468067, PMID:20427577 ; - oboInOwl:hasDbXref UMLS:C1824626 ; oboInOwl:hasExactSynonym "SPDL1", "coiled-coil domain-containing protein 99", "spindle apparatus coiled-coil protein 1", "spindly, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54908 ; - skos:exactMatch HGNC_symbol:SPDL1 ; + skos:exactMatch UMLS:C1824626, + HGNC:26010, + HGNC_symbol:SPDL1 ; biolink:category biolink:Gene . OMIM:616403 a owl:Class ; rdfs:label "TP53TG1" ; IAO:0000142 PMID:9713990 ; - oboInOwl:hasDbXref UMLS:C1424696 ; oboInOwl:hasExactSynonym "TP53TG1", "tp53 target gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11257 ; - skos:exactMatch HGNC_symbol:TP53TG1 ; + skos:exactMatch UMLS:C1424696, + HGNC:17026, + HGNC_symbol:TP53TG1 ; biolink:category biolink:Gene . OMIM:616404 a owl:Class ; @@ -343778,13 +358287,14 @@ OMIM:616404 a owl:Class ; PMID:9236775 ; RO:0002525 CHR:9606chr2p11.2 ; RO:0003303 OMIM:616462 ; - oboInOwl:hasDbXref UMLS:C1424858 ; oboInOwl:hasExactSynonym "POLR1A", "RNA polymerase i, 194-kd subunit", "polymerase i, rna, subunit a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25885 ; - skos:exactMatch HGNC_symbol:POLR1A ; + skos:exactMatch UMLS:C1424858, + HGNC:17264, + HGNC_symbol:POLR1A ; biolink:category biolink:Gene . OMIM:616405 a owl:Class ; @@ -343792,14 +358302,15 @@ OMIM:616405 a owl:Class ; IAO:0000142 PMID:10470851, PMID:11877461, PMID:17494869 ; - oboInOwl:hasDbXref UMLS:C1426329 ; oboInOwl:hasExactSynonym "AAK1", "adaptor protein 2-associated kinase 1", "ap2-associated kinase 1", "kiaa1048" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22848 ; - skos:exactMatch HGNC_symbol:AAK1 ; + skos:exactMatch UMLS:C1426329, + HGNC:19679, + HGNC_symbol:AAK1 ; biolink:category biolink:Gene . OMIM:616406 a owl:Class ; @@ -343809,12 +358320,13 @@ OMIM:616406 a owl:Class ; PMID:27130255 ; RO:0002525 CHR:9606chr1q42.12 ; RO:0003303 OMIM:616420 ; - oboInOwl:hasDbXref UMLS:C1428949 ; oboInOwl:hasExactSynonym "PYCR2", "pyrroline-5-carboxylate reductase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29920 ; - skos:exactMatch HGNC_symbol:PYCR2 ; + skos:exactMatch UMLS:C1428949, + HGNC:30262, + HGNC_symbol:PYCR2 ; biolink:category biolink:Gene . OMIM:616407 a owl:Class ; @@ -343825,42 +358337,43 @@ OMIM:616407 a owl:Class ; PMID:18711279, PMID:20535495, PMID:7953247 ; - oboInOwl:hasDbXref UMLS:C0155339 ; oboInOwl:hasExactSynonym "BRWNS", "brown syndrome" ; + skos:exactMatch UMLS:C0155339 ; biolink:category biolink:Disease . OMIM:616408 a owl:Class ; rdfs:label "PYCRL" ; IAO:0000142 PMID:23024808 ; - oboInOwl:hasDbXref UMLS:C1428527 ; oboInOwl:hasExactSynonym "PYCRL", "pyrroline-5-carboxylate reductase 3", "pyrroline-5-carboxylate reductase-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65263 ; - skos:exactMatch HGNC_symbol:PYCR3 ; + skos:exactMatch UMLS:C1428527, + HGNC:25846, + HGNC_symbol:PYCR3 ; biolink:category biolink:Gene . OMIM:616409 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 33" ; IAO:0000142 PMID:23033978, PMID:23647072 ; - oboInOwl:hasDbXref UMLS:C4225337, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE33", "developmental and epileptic encephalopathy 33", "epileptic encephalopathy, early infantile, 33" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4225337, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:616411 a owl:Class ; rdfs:label "dystonia 27" ; IAO:0000142 PMID:26004199 ; - oboInOwl:hasDbXref UMLS:C4225336 ; oboInOwl:hasExactSynonym "DYT27", "dystonia 27" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C4225336 ; biolink:category biolink:Disease . OMIM:616412 a owl:Class ; @@ -343868,7 +358381,6 @@ OMIM:616412 a owl:Class ; IAO:0000142 PMID:12930873, PMID:12963716, PMID:16574106 ; - oboInOwl:hasDbXref UMLS:C1427294 ; oboInOwl:hasExactSynonym "TXNDC5", "endoplasmic reticulum protein, 46-kd", "endothelial protein disulfide isomerase", @@ -343876,7 +358388,9 @@ OMIM:616412 a owl:Class ; "thioredoxin domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81567 ; - skos:exactMatch HGNC_symbol:TXNDC5 ; + skos:exactMatch UMLS:C1427294, + HGNC:21073, + HGNC_symbol:TXNDC5 ; biolink:category biolink:Gene . OMIM:616416 a owl:Class ; @@ -343884,7 +358398,6 @@ OMIM:616416 a owl:Class ; IAO:0000142 PMID:10048485, PMID:10994649, PMID:24273166 ; - oboInOwl:hasDbXref UMLS:C1427215 ; oboInOwl:hasExactSynonym "ADGRL1", "adhesion g protein-coupled receptor l1", "calcium-independent alpha-latrotoxin receptor 1", @@ -343893,7 +358406,9 @@ OMIM:616416 a owl:Class ; "lectomedin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22859 ; - skos:exactMatch HGNC_symbol:ADGRL1 ; + skos:exactMatch UMLS:C1427215, + HGNC:20973, + HGNC_symbol:ADGRL1 ; biolink:category biolink:Gene . OMIM:616417 a owl:Class ; @@ -343904,7 +358419,6 @@ OMIM:616417 a owl:Class ; PMID:24273166, PMID:30792275, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1427216 ; oboInOwl:hasExactSynonym "ADGRL3", "adhesion g protein-coupled receptor l3", "calcium-independent alpha-latrotoxin receptor 3", @@ -343913,34 +358427,38 @@ OMIM:616417 a owl:Class ; "lectomedin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23284 ; - skos:exactMatch HGNC_symbol:ADGRL3 ; + skos:exactMatch UMLS:C1427216, + HGNC:20974, + HGNC_symbol:ADGRL3 ; biolink:category biolink:Gene . OMIM:616419 a owl:Class ; rdfs:label "ADGRL4" ; IAO:0000142 PMID:11050079, PMID:23871637 ; - oboInOwl:hasDbXref UMLS:C1427152 ; oboInOwl:hasExactSynonym "ADGRL4", "adhesion g protein-coupled receptor l4", "egf, latrophilin, and 7 transmembrane domains-containing protein 1", "egf-, tm7-, and latrophilin-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64123 ; - skos:exactMatch HGNC_symbol:ADGRL4 ; + skos:exactMatch UMLS:C1427152, + HGNC:20822, + HGNC_symbol:ADGRL4 ; biolink:category biolink:Gene . OMIM:616422 a owl:Class ; rdfs:label "TEFM" ; IAO:0000142 PMID:21278163, PMID:25635099 ; - oboInOwl:hasDbXref UMLS:C3469975 ; oboInOwl:hasExactSynonym "TEFM", "chromosome 17 open reading frame 42", "transcription elongation factor, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79736 ; - skos:exactMatch HGNC_symbol:TEFM ; + skos:exactMatch UMLS:C3469975, + HGNC:26223, + HGNC_symbol:TEFM ; biolink:category biolink:Gene . OMIM:616423 a owl:Class ; @@ -343954,8 +358472,6 @@ OMIM:616423 a owl:Class ; PMID:29100085 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:617804 ; - oboInOwl:hasDbXref UMLS:C1424502, - UMLS:C4540496 ; oboInOwl:hasExactSynonym "DHX30", "ddx30", "deah-box polypeptide 30", @@ -343964,18 +358480,22 @@ OMIM:616423 a owl:Class ; "retina corepressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22907 ; - skos:exactMatch HGNC_symbol:DHX30 ; + skos:exactMatch UMLS:C1424502, + UMLS:C4540496, + HGNC:16716, + HGNC_symbol:DHX30 ; biolink:category biolink:Gene . OMIM:616424 a owl:Class ; rdfs:label "SETD6" ; IAO:0000142 PMID:23324626 ; - oboInOwl:hasDbXref UMLS:C1822690 ; oboInOwl:hasExactSynonym "SETD6", "set domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79918 ; - skos:exactMatch HGNC_symbol:SETD6 ; + skos:exactMatch UMLS:C1822690, + HGNC:26116, + HGNC_symbol:SETD6 ; biolink:category biolink:Gene . OMIM:616425 a owl:Class ; @@ -343986,11 +358506,11 @@ OMIM:616425 a owl:Class ; PMID:567843, PMID:6620326 ; RO:0002525 CHR:9606chr17q24 ; - oboInOwl:hasDbXref UMLS:C4225331 ; oboInOwl:hasExactSynonym "46,xy sex reversal 10", "SRXY10", "chromosome 17q24 deletion syndrome" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C4225331 ; biolink:category biolink:Disease . OMIM:616426 a owl:Class ; @@ -343999,66 +358519,70 @@ OMIM:616426 a owl:Class ; PMID:14654843, PMID:17980596, PMID:23641073 ; - oboInOwl:hasDbXref UMLS:C1824723 ; oboInOwl:hasExactSynonym "CEP192", "centrosomal protein, 192-kd", "kiaa1569", "protein phosphatase 1, regulatory subunit 62" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55125 ; - skos:exactMatch HGNC_symbol:CEP192 ; + skos:exactMatch UMLS:C1824723, + HGNC:25515, + HGNC_symbol:CEP192 ; biolink:category biolink:Gene . OMIM:616427 a owl:Class ; rdfs:label "AKAIN1" ; IAO:0000142 PMID:25653177 ; - oboInOwl:hasDbXref UMLS:C3146783 ; oboInOwl:hasExactSynonym "AKAIN1", "a-kinase anchor inhibitor 1", "chromosome 18 open reading frame 42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642597 ; - skos:exactMatch HGNC_symbol:AKAIN1 ; + skos:exactMatch UMLS:C3146783, + HGNC:28285, + HGNC_symbol:AKAIN1 ; biolink:category biolink:Gene . OMIM:616428 a owl:Class ; rdfs:label "microphthalmia, isolated, with coloboma 10" ; IAO:0000142 PMID:25910211 ; - oboInOwl:hasDbXref UMLS:C4225330 ; oboInOwl:hasExactSynonym "MCOPCB10", "microphthalmia, isolated, with coloboma 10" ; rdfs:subClassOf OMIMPS:300345 ; + skos:exactMatch UMLS:C4225330 ; biolink:category biolink:Disease . OMIM:616429 a owl:Class ; rdfs:label "SUSD3" ; - oboInOwl:hasDbXref UMLS:C1428702 ; oboInOwl:hasExactSynonym "SUSD3", "sushi domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203328 ; - skos:exactMatch HGNC_symbol:SUSD3 ; + skos:exactMatch UMLS:C1428702, + HGNC:28391, + HGNC_symbol:SUSD3 ; biolink:category biolink:Gene . OMIM:616430 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 25" ; IAO:0000142 PMID:25754315 ; - oboInOwl:hasDbXref UMLS:C4225329 ; oboInOwl:hasExactSynonym "COXPD25", "combined oxidative phosphorylation deficiency 25" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4225329 ; biolink:category biolink:Disease . OMIM:616431 a owl:Class ; rdfs:label "GPAT2" ; IAO:0000142 PMID:17689486, PMID:24967918 ; - oboInOwl:hasDbXref UMLS:C2829539 ; oboInOwl:hasExactSynonym "GPAT2", "glycerol-3-phosphate acyltransferase 2, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150763 ; - skos:exactMatch HGNC_symbol:GPAT2 ; + skos:exactMatch UMLS:C2829539, + HGNC:27168, + HGNC_symbol:GPAT2 ; biolink:category biolink:Gene . OMIM:616432 a owl:Class ; @@ -344070,14 +358594,15 @@ OMIM:616432 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:617433 ; - oboInOwl:hasDbXref UMLS:C1424737 ; oboInOwl:hasExactSynonym "ARHGEF18", "kiaa0521", "rho guanine nucleotide exchange factor 18", "rho-specific guanine nucleotide exchange factor, 114-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23370 ; - skos:exactMatch HGNC_symbol:ARHGEF18 ; + skos:exactMatch UMLS:C1424737, + HGNC:17090, + HGNC_symbol:ARHGEF18 ; biolink:category biolink:Gene . OMIM:616434 a owl:Class ; @@ -344087,14 +358612,15 @@ OMIM:616434 a owl:Class ; PMID:20719964, PMID:26634441, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C3470516 ; oboInOwl:hasExactSynonym "IST1", "increased sodium tolerance 1, yeast, homolog of", "ist1 factor associated with escrt-iii", "kiaa0174" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9798 ; - skos:exactMatch HGNC_symbol:IST1 ; + skos:exactMatch UMLS:C3470516, + HGNC:28977, + HGNC_symbol:IST1 ; biolink:category biolink:Gene . OMIM:616437 a owl:Class ; @@ -344105,23 +358631,24 @@ OMIM:616437 a owl:Class ; PMID:24042580, PMID:24486447, PMID:25114083 ; - oboInOwl:hasDbXref UMLS:C4225326 ; oboInOwl:hasExactSynonym "FTDALS3", "frontotemporal dementia and/or amyotrophic lateral sclerosis 3" ; rdfs:subClassOf OMIMPS:105400, OMIMPS:105550 ; + skos:exactMatch UMLS:C4225326 ; biolink:category biolink:Disease . OMIM:616438 a owl:Class ; rdfs:label "TNFAIP8L3" ; IAO:0000142 PMID:25242044 ; - oboInOwl:hasDbXref UMLS:C1823459 ; oboInOwl:hasExactSynonym "TNFAIP8L3", "tnfaip8-like 3", "tumor necrosis factor-alpha-induced protein 8-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388121 ; - skos:exactMatch HGNC_symbol:TNFAIP8L3 ; + skos:exactMatch UMLS:C1823459, + HGNC:20620, + HGNC_symbol:TNFAIP8L3 ; biolink:category biolink:Gene . OMIM:616439 a owl:Class ; @@ -344129,18 +358656,17 @@ OMIM:616439 a owl:Class ; IAO:0000142 PMID:25700176, PMID:25803835, PMID:25943890 ; - oboInOwl:hasDbXref UMLS:C4225325 ; oboInOwl:hasExactSynonym "FTDALS4", "frontotemporal dementia and/or amyotrophic lateral sclerosis 4" ; rdfs:subClassOf OMIMPS:105400, OMIMPS:105550 ; + skos:exactMatch UMLS:C4225325 ; biolink:category biolink:Disease . OMIM:616440 a owl:Class ; rdfs:label "SLC32A1" ; IAO:0000142 PMID:12115694, PMID:25624099 ; - oboInOwl:hasDbXref UMLS:C1420184 ; oboInOwl:hasExactSynonym "SLC32A1", "solute carrier family 32 (gaba vesicular transporter), member 1", "unc47, c. elegans, homolog of", @@ -344148,7 +358674,9 @@ OMIM:616440 a owl:Class ; "vesicular inhibitory amino acid transporter" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140679 ; - skos:exactMatch HGNC_symbol:SLC32A1 ; + skos:exactMatch UMLS:C1420184, + HGNC:11018, + HGNC_symbol:SLC32A1 ; biolink:category biolink:Gene . OMIM:616441 a owl:Class ; @@ -344163,41 +358691,44 @@ OMIM:616441 a owl:Class ; PMID:4900143 ; RO:0002525 CHR:9606chr20p11.23 ; RO:0003303 OMIM:122000 ; - oboInOwl:hasDbXref UMLS:C1826526 ; oboInOwl:hasExactSynonym "OVOL2", "ovo, drosophila, homolog of, 2", "ovo-like 2", "zinc finger protein 339" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58495 ; - skos:exactMatch HGNC_symbol:OVOL2 ; + skos:exactMatch UMLS:C1826526, + HGNC:15804, + HGNC_symbol:OVOL2 ; biolink:category biolink:Gene . OMIM:616442 a owl:Class ; rdfs:label "OVOL3" ; IAO:0000142 PMID:12213202, PMID:22737237 ; - oboInOwl:hasDbXref UMLS:C3471351 ; oboInOwl:hasExactSynonym "OVOL3", "ovo, drosophila, homolog of, 3", "ovo-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728361 ; - skos:exactMatch HGNC_symbol:OVOL3 ; + skos:exactMatch UMLS:C3471351, + HGNC:14186, + HGNC_symbol:OVOL3 ; biolink:category biolink:Gene . OMIM:616443 a owl:Class ; rdfs:label "ZMYM5" ; IAO:0000142 PMID:10894931, PMID:17126306 ; - oboInOwl:hasDbXref UMLS:C1823961 ; oboInOwl:hasExactSynonym "ZMYM5", "zinc finger protein 198-like 1", "zinc finger protein 237", "zinc finger, mym-type 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9205 ; - skos:exactMatch HGNC_symbol:ZMYM5 ; + skos:exactMatch UMLS:C1823961, + HGNC:13029, + HGNC_symbol:ZMYM5 ; biolink:category biolink:Gene . OMIM:616444 a owl:Class ; @@ -344205,25 +358736,27 @@ OMIM:616444 a owl:Class ; IAO:0000142 PMID:12874115, PMID:16027046, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1428788 ; oboInOwl:hasExactSynonym "RBM19", "kiaa0682", "rna-binding motif protein 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9904 ; - skos:exactMatch HGNC_symbol:RBM19 ; + skos:exactMatch UMLS:C1428788, + HGNC:29098, + HGNC_symbol:RBM19 ; biolink:category biolink:Gene . OMIM:616446 a owl:Class ; rdfs:label "LEXM" ; IAO:0000142 PMID:25883318 ; - oboInOwl:hasDbXref UMLS:C1823791 ; oboInOwl:hasExactSynonym "LEXM", "chromosome 1 open reading frame 177", "lymphocyte expansion molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163747 ; - skos:exactMatch HGNC_symbol:LEXM ; + skos:exactMatch UMLS:C1823791, + HGNC:26854, + HGNC_symbol:LEXM ; biolink:category biolink:Gene . OMIM:616447 a owl:Class ; @@ -344231,14 +358764,15 @@ OMIM:616447 a owl:Class ; IAO:0000142 PMID:10718198, PMID:24100041, PMID:24981863 ; - oboInOwl:hasDbXref UMLS:C1825689 ; oboInOwl:hasExactSynonym "VIRMA", "kiaa1429", "vir-like m6a methyltransferase-associated protein", "virilizer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25962 ; - skos:exactMatch HGNC_symbol:VIRMA ; + skos:exactMatch UMLS:C1825689, + HGNC:24500, + HGNC_symbol:VIRMA ; biolink:category biolink:Gene . OMIM:616448 a owl:Class ; @@ -344247,12 +358781,13 @@ OMIM:616448 a owl:Class ; PMID:24703428, PMID:24719330, PMID:8126105 ; - oboInOwl:hasDbXref UMLS:C1538769 ; oboInOwl:hasExactSynonym "RAB12", "ras-associated protein rab12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201475 ; - skos:exactMatch HGNC_symbol:RAB12 ; + skos:exactMatch UMLS:C1538769, + HGNC:31332, + HGNC_symbol:RAB12 ; biolink:category biolink:Gene . OMIM:616450 a owl:Class ; @@ -344264,22 +358799,23 @@ OMIM:616450 a owl:Class ; PMID:23977092, PMID:24917152, PMID:25383639 ; - oboInOwl:hasDbXref UMLS:C1428731 ; oboInOwl:hasExactSynonym "EFHD2", "ef-hand domain family, member d2", "swiprosin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79180 ; - skos:exactMatch HGNC_symbol:EFHD2 ; + skos:exactMatch UMLS:C1428731, + HGNC:28670, + HGNC_symbol:EFHD2 ; biolink:category biolink:Gene . OMIM:616451 a owl:Class ; rdfs:label "spastic paraplegia 74, autosomal recessive" ; IAO:0000142 PMID:25609768 ; - oboInOwl:hasDbXref UMLS:C4225322 ; oboInOwl:hasExactSynonym "SPG74", "spastic paraplegia 74, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C4225322 ; biolink:category biolink:Disease . OMIM:616452 a owl:Class ; @@ -344289,22 +358825,23 @@ OMIM:616452 a owl:Class ; PMID:25352053, PMID:25930198, PMID:5540480 ; - oboInOwl:hasDbXref UMLS:C4551967 ; oboInOwl:hasExactSynonym "BENTA", "b-cell expansion with nfkb and t-cell anergy" ; + skos:exactMatch UMLS:C4551967 ; biolink:category biolink:Disease . OMIM:616453 a owl:Class ; rdfs:label "ZC3H13" ; IAO:0000142 PMID:10048485, PMID:24100041 ; - oboInOwl:hasDbXref UMLS:C1823928 ; oboInOwl:hasExactSynonym "ZC3H13", "kiaa0853", "zinc finger ccch domain-containing protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23091 ; - skos:exactMatch HGNC_symbol:ZC3H13 ; + skos:exactMatch UMLS:C1823928, + HGNC:20368, + HGNC_symbol:ZC3H13 ; biolink:category biolink:Gene . OMIM:616454 a owl:Class ; @@ -344315,26 +358852,28 @@ OMIM:616454 a owl:Class ; PMID:6897033 ; RO:0002525 CHR:9606chr11p11.2 ; RO:0003303 OMIM:616469 ; - oboInOwl:hasDbXref UMLS:C1426631 ; oboInOwl:hasExactSynonym "ZNF408", "zinc finger protein 408" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79797 ; - skos:exactMatch HGNC_symbol:ZNF408 ; + skos:exactMatch UMLS:C1426631, + HGNC:20041, + HGNC_symbol:ZNF408 ; biolink:category biolink:Gene . OMIM:616456 a owl:Class ; rdfs:label "INO80B" ; IAO:0000142 PMID:15556297, PMID:25143393 ; - oboInOwl:hasDbXref UMLS:C1824078 ; oboInOwl:hasExactSynonym "INO80B", "hmga1-like protein 4", "ino80 complex, subunit B", "pap1-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83444 ; - skos:exactMatch HGNC_symbol:INO80B ; + skos:exactMatch UMLS:C1824078, + HGNC:13324, + HGNC_symbol:INO80B ; biolink:category biolink:Gene . OMIM:616458 a owl:Class ; @@ -344344,25 +358883,27 @@ OMIM:616458 a owl:Class ; PMID:26005867 ; RO:0002525 CHR:9606chr9q34.12 ; RO:0003303 OMIM:616488 ; - oboInOwl:hasDbXref UMLS:C1422334 ; oboInOwl:hasExactSynonym "PRDM12", "positive regulatory domain zinc finger protein 12", "pr domain-containing protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59335 ; - skos:exactMatch HGNC_symbol:PRDM12 ; + skos:exactMatch UMLS:C1422334, + HGNC:13997, + HGNC_symbol:PRDM12 ; biolink:category biolink:Gene . OMIM:616463 a owl:Class ; rdfs:label "ZNF232" ; IAO:0000142 PMID:11311944 ; - oboInOwl:hasDbXref UMLS:C1421721 ; oboInOwl:hasExactSynonym "ZNF232", "zinc finger protein 232", "zinc finger- and scan domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7775 ; - skos:exactMatch HGNC_symbol:ZNF232 ; + skos:exactMatch UMLS:C1421721, + HGNC:13026, + HGNC_symbol:ZNF232 ; biolink:category biolink:Gene . OMIM:616464 a owl:Class ; @@ -344370,14 +358911,15 @@ OMIM:616464 a owl:Class ; IAO:0000142 PMID:19919181, PMID:23880345, PMID:9928932 ; - oboInOwl:hasDbXref UMLS:C1825023 ; oboInOwl:hasExactSynonym "ECD", "ecdysoneless cell cycle regulator", "ecdysoneless, drosophila, homolog of", "suppressor of gcr2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11319 ; - skos:exactMatch HGNC_symbol:ECD ; + skos:exactMatch UMLS:C1825023, + HGNC:17029, + HGNC_symbol:ECD ; biolink:category biolink:Gene . OMIM:616465 a owl:Class ; @@ -344386,7 +358928,6 @@ OMIM:616465 a owl:Class ; PMID:25799061 ; RO:0002525 CHR:9606chr7q21.2-q21.3 ; RO:0003303 OMIM:619685 ; - oboInOwl:hasDbXref UMLS:C1824659 ; oboInOwl:hasExactSynonym "VPS50", "coiled-coil domain-containing protein 132", "kiaa1861", @@ -344394,7 +358935,9 @@ OMIM:616465 a owl:Class ; "vps50, earp/garpii complex subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55610 ; - skos:exactMatch HGNC_symbol:VPS50 ; + skos:exactMatch UMLS:C1824659, + HGNC:25956, + HGNC_symbol:VPS50 ; biolink:category biolink:Gene . OMIM:616466 a owl:Class ; @@ -344402,14 +358945,15 @@ OMIM:616466 a owl:Class ; IAO:0000142 PMID:12351186, PMID:18402767, PMID:23778138 ; - oboInOwl:hasDbXref UMLS:C1425664 ; oboInOwl:hasExactSynonym "UNC5D", "unc5 netrin receptor d", "unc5, c. elegans, homolog of, d", "unc5h4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137970 ; - skos:exactMatch HGNC_symbol:UNC5D ; + skos:exactMatch UMLS:C1425664, + HGNC:18634, + HGNC_symbol:UNC5D ; biolink:category biolink:Gene . OMIM:616467 a owl:Class ; @@ -344417,12 +358961,13 @@ OMIM:616467 a owl:Class ; IAO:0000142 PMID:11909969, PMID:11937519, PMID:14630615 ; - oboInOwl:hasDbXref UMLS:C2829279 ; oboInOwl:hasExactSynonym "DPCD", "deleted 1n primary ciliary dyskinesia, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25911 ; - skos:exactMatch HGNC_symbol:DPCD ; + skos:exactMatch UMLS:C2829279, + HGNC:24542, + HGNC_symbol:DPCD ; biolink:category biolink:Gene . OMIM:616468 a owl:Class ; @@ -344430,20 +358975,20 @@ OMIM:616468 a owl:Class ; IAO:0000142 PMID:19324841, PMID:23716654, PMID:6897033 ; - oboInOwl:hasDbXref UMLS:C4225316 ; oboInOwl:hasExactSynonym "EVR6", "exudative vitreoretinopathy 6" ; rdfs:subClassOf OMIMPS:133780 ; + skos:exactMatch UMLS:C4225316 ; biolink:category biolink:Disease . OMIM:616470 a owl:Class ; rdfs:label "ullrich congenital muscular dystrophy 2" ; IAO:0000142 PMID:21670218, PMID:24334604 ; - oboInOwl:hasDbXref UMLS:C4225314 ; oboInOwl:hasExactSynonym "UCMD2", "ullrich congenital muscular dystrophy 2" ; rdfs:subClassOf OMIMPS:254090 ; + skos:exactMatch UMLS:C4225314 ; biolink:category biolink:Disease . OMIM:616472 a owl:Class ; @@ -344451,39 +358996,42 @@ OMIM:616472 a owl:Class ; IAO:0000142 PMID:11230159, PMID:25185265, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1540144 ; oboInOwl:hasExactSynonym "UBAP2L", "kiaa0144", "nice4", "ubiquitin-associated protein 2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9898 ; - skos:exactMatch HGNC_symbol:UBAP2L ; + skos:exactMatch UMLS:C1540144, + HGNC:29877, + HGNC_symbol:UBAP2L ; biolink:category biolink:Gene . OMIM:616473 a owl:Class ; rdfs:label "MIR558" ; IAO:0000142 PMID:23611898, PMID:25616966 ; - oboInOwl:hasDbXref UMLS:C1826137 ; oboInOwl:hasExactSynonym "MIR558", "micro RNA 558", "mirna558" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:693143 ; - skos:exactMatch HGNC_symbol:MIR558 ; + skos:exactMatch UMLS:C1826137, + HGNC:32814, + HGNC_symbol:MIR558 ; biolink:category biolink:Gene . OMIM:616474 a owl:Class ; rdfs:label "ZSCAN26" ; IAO:0000142 PMID:1569959 ; - oboInOwl:hasDbXref UMLS:C1421676 ; oboInOwl:hasExactSynonym "ZSCAN26", "srezbp", "zinc finger- and scan domain-containing protein 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7741 ; - skos:exactMatch HGNC_symbol:ZSCAN26 ; + skos:exactMatch UMLS:C1421676, + HGNC:12978, + HGNC_symbol:ZSCAN26 ; biolink:category biolink:Gene . OMIM:616475 a owl:Class ; @@ -344491,26 +359039,28 @@ OMIM:616475 a owl:Class ; IAO:0000142 PMID:10819331, PMID:19536135, PMID:22767577 ; - oboInOwl:hasDbXref UMLS:C1824714 ; oboInOwl:hasExactSynonym "CEP72", "centrosomal protein, 72-kd", "kiaa1519" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55722 ; - skos:exactMatch HGNC_symbol:CEP72 ; + skos:exactMatch UMLS:C1824714, + HGNC:25547, + HGNC_symbol:CEP72 ; biolink:category biolink:Gene . OMIM:616476 a owl:Class ; rdfs:label "AGBL4" ; IAO:0000142 PMID:21074048, PMID:25416787 ; - oboInOwl:hasDbXref UMLS:C1826610 ; oboInOwl:hasExactSynonym "AGBL4", "atp/gtp-binding protein-like 4", "cytosolic carboxypeptidase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84871 ; - skos:exactMatch HGNC_symbol:AGBL4 ; + skos:exactMatch UMLS:C1826610, + HGNC:25892, + HGNC_symbol:AGBL4 ; biolink:category biolink:Gene . OMIM:616477 a owl:Class ; @@ -344519,37 +359069,40 @@ OMIM:616477 a owl:Class ; PMID:15610520, PMID:25086043, PMID:26073781 ; - oboInOwl:hasDbXref UMLS:C1426338 ; oboInOwl:hasExactSynonym "NRBF2", "comodulator of ppar and rxr", "nuclear receptor-binding factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29982 ; - skos:exactMatch HGNC_symbol:NRBF2 ; + skos:exactMatch UMLS:C1426338, + HGNC:19692, + HGNC_symbol:NRBF2 ; biolink:category biolink:Gene . OMIM:616478 a owl:Class ; rdfs:label "LRGUK" ; IAO:0000142 PMID:25781171 ; - oboInOwl:hasDbXref UMLS:C1825873 ; oboInOwl:hasExactSynonym "LRGUK", "leucine-rich repeats- and guanylate kinase domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136332 ; - skos:exactMatch HGNC_symbol:LRGUK ; + skos:exactMatch UMLS:C1825873, + HGNC:21964, + HGNC_symbol:LRGUK ; biolink:category biolink:Gene . OMIM:616480 a owl:Class ; rdfs:label "KIAA1328" ; IAO:0000142 PMID:10718198, PMID:15656913 ; - oboInOwl:hasDbXref UMLS:C1537469 ; oboInOwl:hasExactSynonym "KIAA1328", "hinderin", "kiaa1328 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57536 ; - skos:exactMatch HGNC_symbol:KIAA1328 ; + skos:exactMatch UMLS:C1537469, + HGNC:29248, + HGNC_symbol:KIAA1328 ; biolink:category biolink:Gene . OMIM:616482 a owl:Class ; @@ -344558,19 +359111,19 @@ OMIM:616482 a owl:Class ; PMID:10377013, PMID:11406607, PMID:18076102 ; - oboInOwl:hasDbXref UMLS:C2674173 ; oboInOwl:hasExactSynonym "SADDAN", "achondroplasia, severe, with developmental delay and acanthosis nigricans", "saddan dysplasia" ; + skos:exactMatch UMLS:C2674173 ; biolink:category biolink:Disease . OMIM:616483 a owl:Class ; rdfs:label "infantile liver failure syndrome 2" ; IAO:0000142 PMID:26073778 ; - oboInOwl:hasDbXref UMLS:C3809651 ; oboInOwl:hasExactSynonym "ILFS2", "infantile liver failure syndrome 2" ; rdfs:subClassOf OMIMPS:615438 ; + skos:exactMatch UMLS:C3809651 ; biolink:category biolink:Disease . OMIM:616484 a owl:Class ; @@ -344581,70 +359134,73 @@ OMIM:616484 a owl:Class ; PMID:21139582, PMID:23563176, PMID:25645515 ; - oboInOwl:hasDbXref UMLS:C1539930, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "TAX1BP3", "tax interaction protein 1", "tax1-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30851 ; - skos:exactMatch HGNC_symbol:TAX1BP3 ; + skos:exactMatch UMLS:C1539930, + UMLS:C2986382, + HGNC:30684, + HGNC_symbol:TAX1BP3 ; biolink:category biolink:Gene . OMIM:616485 a owl:Class ; rdfs:label "ZBTB21" ; IAO:0000142 PMID:15629158 ; - oboInOwl:hasDbXref UMLS:C1421775 ; oboInOwl:hasExactSynonym "ZBTB21", "kiaa1227", "zinc finger protein 295", "zinc finger- and btb domain-containing protein 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:49854 ; - skos:exactMatch HGNC_symbol:ZBTB21 ; + skos:exactMatch UMLS:C1421775, + HGNC:13083, + HGNC_symbol:ZBTB21 ; biolink:category biolink:Gene . OMIM:616487 a owl:Class ; rdfs:label "epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive" ; IAO:0000142 PMID:25712130 ; - oboInOwl:hasDbXref UMLS:C4225309 ; oboInOwl:hasExactSynonym "EBS5D", "epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive", "epidermolysis bullosa simplex 5d, with nail dystrophy", "epidermolysis bullosa simplex with nail dystrophy" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C4225309 ; biolink:category biolink:Disease . OMIM:616490 a owl:Class ; rdfs:label "joubert syndrome 23" ; IAO:0000142 PMID:26096313 ; - oboInOwl:hasDbXref UMLS:C4084822 ; oboInOwl:hasExactSynonym "JBTS23", "joubert syndrome 23" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4084822 ; biolink:category biolink:Disease . OMIM:616491 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2v" ; IAO:0000142 PMID:25818867 ; - oboInOwl:hasDbXref UMLS:C4225306 ; oboInOwl:hasExactSynonym "CMT2V", "charcot-marie-tooth disease, axonal, iia 2v", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2v", "charcot-marie-tooth neuropathy, iia 2v" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4225306 ; biolink:category biolink:Disease . OMIM:616492 a owl:Class ; rdfs:label "EWSAT1" ; IAO:0000142 PMID:25401475 ; - oboInOwl:hasDbXref UMLS:C3470644 ; oboInOwl:hasExactSynonym "EWSAT1", "ewing sarcoma-associated transcript 1, noncoding", "long intergenic noncoding RNA 277" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283673 ; - skos:exactMatch HGNC_symbol:EWSAT1 ; + skos:exactMatch UMLS:C3470644, + HGNC:26596, + HGNC_symbol:EWSAT1 ; biolink:category biolink:Gene . OMIM:616493 a owl:Class ; @@ -344652,7 +359208,6 @@ OMIM:616493 a owl:Class ; IAO:0000142 PMID:10470851, PMID:26022416, PMID:29211708 ; - oboInOwl:hasDbXref UMLS:C3470282 ; oboInOwl:hasExactSynonym "FAM208A", "chromosome 3 open reading frame 63", "family with sequence similarity 208, member a", @@ -344661,78 +359216,85 @@ OMIM:616493 a owl:Class ; "transgene activation suppressor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23272 ; - skos:exactMatch HGNC_symbol:TASOR ; + skos:exactMatch UMLS:C3470282, + HGNC:30314, + HGNC_symbol:TASOR ; biolink:category biolink:Gene . OMIM:616494 a owl:Class ; rdfs:label "leukodystrophy, hypomyelinating, 11" ; IAO:0000142 PMID:26151409 ; - oboInOwl:hasDbXref UMLS:C4225305 ; oboInOwl:hasExactSynonym "4h leukodystrophy 3", "HLD11", "leukodystrophy, hypomyelinating, 11" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C4225305 ; biolink:category biolink:Disease . OMIM:616495 a owl:Class ; rdfs:label "ARL6IP6" ; IAO:0000142 PMID:10508919, PMID:25957586 ; - oboInOwl:hasDbXref UMLS:C1538932, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "ARL6IP6", "adp-ribosylation factor-like gtpase 6-interacting protein 6", "arl6-interacting protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151188 ; - skos:exactMatch HGNC_symbol:ARL6IP6 ; + skos:exactMatch UMLS:C1538932, + UMLS:C2986382, + HGNC:24048, + HGNC_symbol:ARL6IP6 ; biolink:category biolink:Gene . OMIM:616496 a owl:Class ; rdfs:label "NEMP1" ; IAO:0000142 PMID:25946333 ; - oboInOwl:hasDbXref UMLS:C2240100 ; oboInOwl:hasExactSynonym "NEMP1", "nuclear envelope integral membrane protein 1", "transmembrane protein 194a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23306 ; - skos:exactMatch HGNC_symbol:NEMP1 ; + skos:exactMatch UMLS:C2240100, + HGNC:29001, + HGNC_symbol:NEMP1 ; biolink:category biolink:Gene . OMIM:616497 a owl:Class ; rdfs:label "NEMP2" ; IAO:0000142 PMID:25946333 ; - oboInOwl:hasDbXref UMLS:C2240101 ; oboInOwl:hasExactSynonym "NEMP2", "nuclear envelope integral membrane protein 2", "transmembrane protein 194b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100131211 ; - skos:exactMatch HGNC_symbol:NEMP2 ; + skos:exactMatch UMLS:C2240101, + HGNC:33700, + HGNC_symbol:NEMP2 ; biolink:category biolink:Gene . OMIM:616498 a owl:Class ; rdfs:label "RETREG3" ; IAO:0000142 PMID:23939472 ; - oboInOwl:hasDbXref UMLS:C2239426 ; oboInOwl:hasExactSynonym "RETREG3", "family with sequence similarity 134, member c", "reticulophagy regulator 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162427 ; - skos:exactMatch HGNC_symbol:RETREG3 ; + skos:exactMatch UMLS:C2239426, + HGNC:27258, + HGNC_symbol:RETREG3 ; biolink:category biolink:Gene . OMIM:616499 a owl:Class ; rdfs:label "TMEM203" ; IAO:0000142 PMID:25996873 ; - oboInOwl:hasDbXref UMLS:C2240109 ; oboInOwl:hasExactSynonym "TMEM203", "transmembrane protein 203" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94107 ; - skos:exactMatch HGNC_symbol:TMEM203 ; + skos:exactMatch UMLS:C2240109, + HGNC:28217, + HGNC_symbol:TMEM203 ; biolink:category biolink:Gene . OMIM:616504 a owl:Class ; @@ -344742,14 +359304,15 @@ OMIM:616504 a owl:Class ; PMID:24981863, PMID:27281194, PMID:32778823 ; - oboInOwl:hasDbXref UMLS:C2681660 ; oboInOwl:hasExactSynonym "METTL14", "kiaa1627", "methyltransferase 14, n6-adenosine-methyltransferase subunit", "methyltransferase-like 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57721 ; - skos:exactMatch HGNC_symbol:METTL14 ; + skos:exactMatch UMLS:C2681660, + HGNC:29330, + HGNC_symbol:METTL14 ; biolink:category biolink:Gene . OMIM:616505 a owl:Class ; @@ -344758,11 +359321,11 @@ OMIM:616505 a owl:Class ; PMID:27390132, PMID:27430653, PMID:27543974 ; - oboInOwl:hasDbXref UMLS:C4225302 ; oboInOwl:hasExactSynonym "HMSN6B", "charcot-marie-tooth disease, iia 6b", "hmsn 6b", "neuropathy, hereditary motor and sensory, iia vib, with optic atrophy" ; + skos:exactMatch UMLS:C4225302 ; biolink:category biolink:Disease . OMIM:616506 a owl:Class ; @@ -344772,8 +359335,6 @@ OMIM:616506 a owl:Class ; PMID:31883645 ; RO:0002525 CHR:9606chr4q27 ; RO:0003303 OMIM:618841 ; - oboInOwl:hasDbXref UMLS:C3472710, - UMLS:C5394246 ; oboInOwl:hasExactSynonym "NDNF", "chromosome 4 open reading frame 31", "epidermacan", @@ -344781,21 +359342,25 @@ OMIM:616506 a owl:Class ; "nord, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79625 ; - skos:exactMatch HGNC_symbol:NDNF ; + skos:exactMatch UMLS:C3472710, + UMLS:C5394246, + HGNC:26256, + HGNC_symbol:NDNF ; biolink:category biolink:Gene . OMIM:616508 a owl:Class ; rdfs:label "SLC39A11" ; IAO:0000142 PMID:11707075, PMID:23643525 ; - oboInOwl:hasDbXref UMLS:C1422669 ; oboInOwl:hasExactSynonym "SLC39A11", "chromosome 17 open reading frame 26", "solute carrier family 39 (zinc transporter), member 11", "zrt- and irt-like protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201266 ; - skos:exactMatch HGNC_symbol:SLC39A11 ; + skos:exactMatch UMLS:C1422669, + HGNC:14463, + HGNC_symbol:SLC39A11 ; biolink:category biolink:Gene . OMIM:616509 a owl:Class ; @@ -344804,23 +359369,24 @@ OMIM:616509 a owl:Class ; PMID:26200341, PMID:29016354, PMID:30401459 ; - oboInOwl:hasDbXref UMLS:C4225300 ; oboInOwl:hasExactSynonym "CTRCT44", "cataract 44", "cataract 44 and hypotrichosis" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C4225300 ; biolink:category biolink:Disease . OMIM:616512 a owl:Class ; rdfs:label "RNF152" ; IAO:0000142 PMID:21203937, PMID:25936802 ; - oboInOwl:hasDbXref UMLS:C1428625 ; oboInOwl:hasExactSynonym "RNF152", "ring finger protein 152" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220441 ; - skos:exactMatch HGNC_symbol:RNF152 ; + skos:exactMatch UMLS:C1428625, + HGNC:26811, + HGNC_symbol:RNF152 ; biolink:category biolink:Gene . OMIM:616513 a owl:Class ; @@ -344829,7 +359395,6 @@ OMIM:616513 a owl:Class ; PMID:25534202, PMID:26001795, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1825790 ; oboInOwl:hasExactSynonym "LARP4B", "kiaa0217", "la ribonucleoprotein 4b", @@ -344839,28 +359404,31 @@ OMIM:616513 a owl:Class ; "la-related protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23185 ; - skos:exactMatch HGNC_symbol:LARP4B ; + skos:exactMatch UMLS:C1825790, + HGNC:28987, + HGNC_symbol:LARP4B ; biolink:category biolink:Gene . OMIM:616514 a owl:Class ; rdfs:label "FAM195B" ; IAO:0000142 PMID:25728771 ; - oboInOwl:hasDbXref UMLS:C2829375 ; oboInOwl:hasExactSynonym "FAM195B", "family with sequence similarity 195, member B", "mapk-regulated corepressor-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348262 ; - skos:exactMatch HGNC_symbol:MCRIP1 ; + skos:exactMatch UMLS:C2829375, + HGNC:28007, + HGNC_symbol:MCRIP1 ; biolink:category biolink:Gene . OMIM:616515 a owl:Class ; rdfs:label "deafness, autosomal recessive 104" ; IAO:0000142 PMID:24958875 ; - oboInOwl:hasDbXref UMLS:C4225298 ; oboInOwl:hasExactSynonym "DFNB104", "deafness, autosomal recessive 104" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4225298 ; biolink:category biolink:Disease . OMIM:616516 a owl:Class ; @@ -344868,25 +359436,26 @@ OMIM:616516 a owl:Class ; IAO:0000142 PMID:10739764, PMID:22431096, PMID:23313286 ; - oboInOwl:hasDbXref UMLS:C2750035, - ORPHA:261, - ORPHA:98855 ; oboInOwl:hasExactSynonym "EDMD3", "emery-dreifuss muscular dystrophy 3, autosomal recessive" ; rdfs:subClassOf OMIMPS:310300 ; + skos:exactMatch UMLS:C2750035, + ORPHA:261, + ORPHA:98855 ; biolink:category biolink:Disease . OMIM:616518 a owl:Class ; rdfs:label "SLC38A6" ; IAO:0000142 PMID:23506890, PMID:24752331 ; - oboInOwl:hasDbXref UMLS:C1426489 ; oboInOwl:hasExactSynonym "SLC38A6", "sodium-coupled amino acid transporter 6", "solute carrier family 38 (amino acid transporter), member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145389 ; - skos:exactMatch HGNC_symbol:SLC38A6 ; + skos:exactMatch UMLS:C1426489, + HGNC:19863, + HGNC_symbol:SLC38A6 ; biolink:category biolink:Gene . OMIM:616519 a owl:Class ; @@ -344894,20 +359463,20 @@ OMIM:616519 a owl:Class ; IAO:0000142 PMID:15231837, PMID:21666256, PMID:26055709 ; - oboInOwl:hasDbXref UMLS:C2239804 ; oboInOwl:hasExactSynonym "PDE12", "pde, 2-prime", "phosphodiesterase 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201626 ; - skos:exactMatch HGNC_symbol:PDE12 ; + skos:exactMatch UMLS:C2239804, + HGNC:25386, + HGNC_symbol:PDE12 ; biolink:category biolink:Gene . OMIM:616520 a owl:Class ; rdfs:label "AHCYL2" ; IAO:0000142 PMID:10048485, PMID:19220705 ; - oboInOwl:hasDbXref UMLS:C2239469 ; oboInOwl:hasExactSynonym "AHCYL2", "adenosylhomocysteinase-like 2", "inositol 1,4,5-trisphosphate receptor 1-binding protein released with inositol 1,4,5-trisphosphate 2", @@ -344917,67 +359486,74 @@ OMIM:616520 a owl:Class ; "s-adenosyl-l-homocysteine hydrolase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23382 ; - skos:exactMatch HGNC_symbol:AHCYL2 ; + skos:exactMatch UMLS:C2239469, + HGNC:22204, + HGNC_symbol:AHCYL2 ; biolink:category biolink:Gene . OMIM:616522 a owl:Class ; rdfs:label "DCUN1D5" ; IAO:0000142 PMID:24192928 ; - oboInOwl:hasDbXref UMLS:C1824898 ; oboInOwl:hasExactSynonym "DCUN1D5", "dcn1 domain-containing protein 5", "squamous cell carcinoma-related oncogene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84259 ; - skos:exactMatch HGNC_symbol:DCUN1D5 ; + skos:exactMatch UMLS:C1824898, + HGNC:28409, + HGNC_symbol:DCUN1D5 ; biolink:category biolink:Gene . OMIM:616523 a owl:Class ; rdfs:label "MFAP3L" ; IAO:0000142 PMID:24735981, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1537690 ; oboInOwl:hasExactSynonym "MFAP3L", "kiaa0626", "microfibrillar-associated protein 3-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9848 ; - skos:exactMatch HGNC_symbol:MFAP3L ; + skos:exactMatch UMLS:C1537690, + HGNC:29083, + HGNC_symbol:MFAP3L ; biolink:category biolink:Gene . OMIM:616524 a owl:Class ; rdfs:label "TMEM139" ; IAO:0000142 PMID:26049106 ; - oboInOwl:hasDbXref UMLS:C1823402 ; oboInOwl:hasExactSynonym "TMEM139", "transmembrane protein 139" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135932 ; - skos:exactMatch HGNC_symbol:TMEM139 ; + skos:exactMatch UMLS:C1823402, + HGNC:22058, + HGNC_symbol:TMEM139 ; biolink:category biolink:Gene . OMIM:616525 a owl:Class ; rdfs:label "SLC38A10" ; IAO:0000142 PMID:18418736, PMID:23506890 ; - oboInOwl:hasDbXref UMLS:C2239933 ; oboInOwl:hasExactSynonym "SLC38A10", "solute carrier family 38 (amino acid transporter), member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124565 ; - skos:exactMatch HGNC_symbol:SLC38A10 ; + skos:exactMatch UMLS:C2239933, + HGNC:28237, + HGNC_symbol:SLC38A10 ; biolink:category biolink:Gene . OMIM:616526 a owl:Class ; rdfs:label "SLC38A11" ; IAO:0000142 PMID:18418736, PMID:23506890 ; - oboInOwl:hasDbXref UMLS:C2239934 ; oboInOwl:hasExactSynonym "SLC38A11", "solute carrier family 38 (amino acid transporter), member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151258 ; - skos:exactMatch HGNC_symbol:SLC38A11 ; + skos:exactMatch UMLS:C2239934, + HGNC:26836, + HGNC_symbol:SLC38A11 ; biolink:category biolink:Gene . OMIM:616527 a owl:Class ; @@ -344985,7 +359561,6 @@ OMIM:616527 a owl:Class ; IAO:0000142 PMID:20976249, PMID:21252223, PMID:23874500 ; - oboInOwl:hasDbXref UMLS:C3469710 ; oboInOwl:hasExactSynonym "SFR1", "chromosome 10 open reading frame 78", "meiosis protein 5, s. cerevisiae, homolog of", @@ -344993,14 +359568,15 @@ OMIM:616527 a owl:Class ; "swi5-dependent homologous recombination repair protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119392 ; - skos:exactMatch HGNC_symbol:SFR1 ; + skos:exactMatch UMLS:C3469710, + HGNC:29574, + HGNC_symbol:SFR1 ; biolink:category biolink:Gene . OMIM:616528 a owl:Class ; rdfs:label "SWI5" ; IAO:0000142 PMID:20976249, PMID:21252223 ; - oboInOwl:hasDbXref UMLS:C3469945 ; oboInOwl:hasExactSynonym "SWI5", "chromosome 9 open reading frame 119", "sae3, s. cerevisiae, homolog of", @@ -345008,7 +359584,9 @@ OMIM:616528 a owl:Class ; "swi5, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375757 ; - skos:exactMatch HGNC_symbol:SWI5 ; + skos:exactMatch UMLS:C3469945, + HGNC:31412, + HGNC_symbol:SWI5 ; biolink:category biolink:Gene . OMIM:616529 a owl:Class ; @@ -345019,13 +359597,14 @@ OMIM:616529 a owl:Class ; PMID:30401835, PMID:30728504, PMID:31292544 ; - oboInOwl:hasDbXref UMLS:C1538132 ; oboInOwl:hasExactSynonym "YTHDF1", "yth domain family, member 1", "yth n6-methyladenosine rna-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54915 ; - skos:exactMatch HGNC_symbol:YTHDF1 ; + skos:exactMatch UMLS:C1538132, + HGNC:15867, + HGNC_symbol:YTHDF1 ; biolink:category biolink:Gene . OMIM:616530 a owl:Class ; @@ -345034,35 +359613,37 @@ OMIM:616530 a owl:Class ; PMID:24269672, PMID:24834797, PMID:29360036 ; - oboInOwl:hasDbXref UMLS:C1538131 ; oboInOwl:hasExactSynonym "YTHDC2", "cyclosporin a-associated helicase-like protein", "yth domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64848 ; - skos:exactMatch HGNC_symbol:YTHDC2 ; + skos:exactMatch UMLS:C1538131, + HGNC:24721, + HGNC_symbol:YTHDC2 ; biolink:category biolink:Gene . OMIM:616531 a owl:Class ; rdfs:label "neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities" ; IAO:0000142 PMID:25855803 ; - oboInOwl:hasDbXref UMLS:C4225295 ; oboInOwl:hasExactSynonym "NEDSPLB", "neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities", "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" ; + skos:exactMatch UMLS:C4225295 ; biolink:category biolink:Disease . OMIM:616533 a owl:Class ; rdfs:label "DDX31" ; IAO:0000142 PMID:23019224 ; - oboInOwl:hasDbXref UMLS:C1424501 ; oboInOwl:hasExactSynonym "DDX31", "dead-box helicase 31", "dead-box polypeptide 31", "protein phosphatase 1, regulatory subunit 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64794 ; - skos:exactMatch HGNC_symbol:DDX31 ; + skos:exactMatch UMLS:C1424501, + HGNC:16715, + HGNC_symbol:DDX31 ; biolink:category biolink:Gene . OMIM:616535 a owl:Class ; @@ -345072,10 +359653,10 @@ OMIM:616535 a owl:Class ; PMID:26581003, PMID:26581004, PMID:26581005 ; - oboInOwl:hasDbXref UMLS:C4225292 ; oboInOwl:hasExactSynonym "NMTC5", "thyroid cancer, nonmedullary, 5" ; rdfs:subClassOf OMIMPS:188550 ; + skos:exactMatch UMLS:C4225292 ; biolink:category biolink:Disease . OMIM:616536 a owl:Class ; @@ -345083,26 +359664,28 @@ OMIM:616536 a owl:Class ; IAO:0000142 PMID:11756564, PMID:15923608, PMID:16427609 ; - oboInOwl:hasDbXref UMLS:C1424109 ; oboInOwl:hasExactSynonym "CST9L", "cystatin 9-like", "testatin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128821 ; - skos:exactMatch HGNC_symbol:CST9L ; + skos:exactMatch UMLS:C1424109, + HGNC:16233, + HGNC_symbol:CST9L ; biolink:category biolink:Gene . OMIM:616537 a owl:Class ; rdfs:label "VSTM2L" ; IAO:0000142 PMID:21393573 ; - oboInOwl:hasDbXref UMLS:C1423977 ; oboInOwl:hasExactSynonym "VSTM2L", "chromosome 20 open reading frame 102", "v-set and transmembrane domains-containing protein 2-like", "vstm2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128434 ; - skos:exactMatch HGNC_symbol:VSTM2L ; + skos:exactMatch UMLS:C1423977, + HGNC:16096, + HGNC_symbol:VSTM2L ; biolink:category biolink:Gene . OMIM:616538 a owl:Class ; @@ -345110,20 +359693,20 @@ OMIM:616538 a owl:Class ; IAO:0000142 PMID:12140559, PMID:24052401, PMID:25934851 ; - oboInOwl:hasDbXref UMLS:C4225291 ; oboInOwl:hasExactSynonym "MDDGA9", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 9", "walker-warburg syndrome or muscle-eye brain disease, dag1-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C4225291 ; biolink:category biolink:Disease . OMIM:616540 a owl:Class ; rdfs:label "epilepsy, progressive myoclonic, 9" ; IAO:0000142 PMID:25954030 ; - oboInOwl:hasDbXref UMLS:C4225289 ; oboInOwl:hasExactSynonym "EPM9", "epilepsy, progressive myoclonic, 9" ; rdfs:subClassOf OMIMPS:254800 ; + skos:exactMatch UMLS:C4225289 ; biolink:category biolink:Disease . OMIM:616542 a owl:Class ; @@ -345131,33 +359714,34 @@ OMIM:616542 a owl:Class ; IAO:0000142 PMID:11731616, PMID:8589431, PMID:8631293 ; - oboInOwl:hasDbXref UMLS:C1426902 ; oboInOwl:hasExactSynonym "GSX1", "genomic-screened homeobox 1", "gs homeobox 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219409 ; - skos:exactMatch HGNC_symbol:GSX1 ; + skos:exactMatch UMLS:C1426902, + HGNC:20374, + HGNC_symbol:GSX1 ; biolink:category biolink:Gene . OMIM:616543 a owl:Class ; rdfs:label "CST9" ; IAO:0000142 PMID:12535658, PMID:23922243 ; - oboInOwl:hasDbXref UMLS:C1539143 ; oboInOwl:hasExactSynonym "CST9", "cystatin 9", "cystatin-like molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128822 ; - skos:exactMatch HGNC_symbol:CST9 ; + skos:exactMatch UMLS:C1539143, + HGNC:13261, + HGNC_symbol:CST9 ; biolink:category biolink:Gene . OMIM:616545 a owl:Class ; rdfs:label "PRELID3A" ; IAO:0000142 PMID:23931759, PMID:26071602 ; - oboInOwl:hasDbXref UMLS:C1540274 ; oboInOwl:hasExactSynonym "PRELID3A", "chromosome 18 open reading frame 43", "preli", @@ -345165,67 +359749,74 @@ OMIM:616545 a owl:Class ; "slowmo, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10650 ; - skos:exactMatch HGNC_symbol:PRELID3A ; + skos:exactMatch UMLS:C1540274, + HGNC:24639, + HGNC_symbol:PRELID3A ; biolink:category biolink:Gene . OMIM:616547 a owl:Class ; rdfs:label "LYG2" ; IAO:0000142 PMID:21093056 ; - oboInOwl:hasDbXref UMLS:C2239663 ; oboInOwl:hasExactSynonym "LYG2", "lysg2", "lysozyme g-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254773 ; - skos:exactMatch HGNC_symbol:LYG2 ; + skos:exactMatch UMLS:C2239663, + HGNC:29615, + HGNC_symbol:LYG2 ; biolink:category biolink:Gene . OMIM:616548 a owl:Class ; rdfs:label "LYPLAL1" ; IAO:0000142 PMID:22052940 ; - oboInOwl:hasDbXref UMLS:C1426938 ; oboInOwl:hasExactSynonym "LYPLAL1", "lysophospholipase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127018 ; - skos:exactMatch HGNC_symbol:LYPLAL1 ; + skos:exactMatch UMLS:C1426938, + HGNC:20440, + HGNC_symbol:LYPLAL1 ; biolink:category biolink:Gene . OMIM:616550 a owl:Class ; rdfs:label "TMEM120A" ; IAO:0000142 PMID:26024229 ; - oboInOwl:hasDbXref UMLS:C2240087 ; oboInOwl:hasExactSynonym "TMEM120A", "nuclear envelope transmembrane protein 29", "transmembrane protein 120a", "transmembrane protein induced by tumor necrosis factor-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83862 ; - skos:exactMatch HGNC_symbol:TMEM120A ; + skos:exactMatch UMLS:C2240087, + HGNC:21697, + HGNC_symbol:TMEM120A ; biolink:category biolink:Gene . OMIM:616551 a owl:Class ; rdfs:label "TMEM120B" ; IAO:0000142 PMID:26024229 ; - oboInOwl:hasDbXref UMLS:C2240088 ; oboInOwl:hasExactSynonym "TMEM120B", "transmembrane protein 120b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144404 ; - skos:exactMatch HGNC_symbol:TMEM120B ; + skos:exactMatch UMLS:C2240088, + HGNC:32008, + HGNC_symbol:TMEM120B ; biolink:category biolink:Gene . OMIM:616552 a owl:Class ; rdfs:label "CARNMT1" ; IAO:0000142 PMID:26001783 ; - oboInOwl:hasDbXref UMLS:C1428084 ; oboInOwl:hasExactSynonym "CARNMT1", "carnosine n-methyltransferase 1", "chromosome 9 open reading frame 41", "upf0586" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:138199 ; - skos:exactMatch HGNC_symbol:CARNMT1 ; + skos:exactMatch UMLS:C1428084, + HGNC:23435, + HGNC_symbol:CARNMT1 ; biolink:category biolink:Gene . OMIM:616554 a owl:Class ; @@ -345236,80 +359827,87 @@ OMIM:616554 a owl:Class ; PMID:26017218 ; RO:0002525 CHR:9606chr1p12 ; RO:0003303 OMIM:619380 ; - oboInOwl:hasDbXref UMLS:C1823083 ; oboInOwl:hasExactSynonym "SPAG17", "pf6, chlamydomonas, homolog of", "sperm-associated antigen 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200162 ; - skos:exactMatch HGNC_symbol:SPAG17 ; + skos:exactMatch UMLS:C1823083, + HGNC:26620, + HGNC_symbol:SPAG17 ; biolink:category biolink:Gene . OMIM:616555 a owl:Class ; rdfs:label "LRRC37A" ; IAO:0000142 PMID:23064749 ; - oboInOwl:hasDbXref UMLS:C1537612 ; oboInOwl:hasExactSynonym "LRRC37A", "leucine-rich repeat-containing protein 37a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9884 ; - skos:exactMatch HGNC_symbol:LRRC37A ; + skos:exactMatch UMLS:C1537612, + HGNC:29069, + HGNC_symbol:LRRC37A ; biolink:category biolink:Gene . OMIM:616556 a owl:Class ; rdfs:label "LRRC37A2" ; IAO:0000142 PMID:23064749 ; - oboInOwl:hasDbXref UMLS:C1825883 ; oboInOwl:hasExactSynonym "LRRC37A2", "leucine-rich repeat-containing protein 37a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:474170 ; - skos:exactMatch HGNC_symbol:LRRC37A2 ; + skos:exactMatch UMLS:C1825883, + HGNC:32404, + HGNC_symbol:LRRC37A2 ; biolink:category biolink:Gene . OMIM:616557 a owl:Class ; rdfs:label "LRRC37A3" ; IAO:0000142 PMID:23064749 ; - oboInOwl:hasDbXref UMLS:C1825884 ; oboInOwl:hasExactSynonym "LRRC37A3", "leucine-rich repeat-containing protein 37a3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374819 ; - skos:exactMatch HGNC_symbol:LRRC37A3 ; + skos:exactMatch UMLS:C1825884, + HGNC:32427, + HGNC_symbol:LRRC37A3 ; biolink:category biolink:Gene . OMIM:616558 a owl:Class ; rdfs:label "LRRC37B" ; IAO:0000142 PMID:23064749 ; - oboInOwl:hasDbXref UMLS:C1537613 ; oboInOwl:hasExactSynonym "LRRC37B", "leucine-rich repeat-containing protein 37b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114659 ; - skos:exactMatch HGNC_symbol:LRRC37B ; + skos:exactMatch UMLS:C1537613, + HGNC:29070, + HGNC_symbol:LRRC37B ; biolink:category biolink:Gene . OMIM:616560 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:26221034 ; - oboInOwl:hasDbXref UMLS:C4225450 ; oboInOwl:hasExactSynonym "cd300c-like molecule", "cd300h", "cd300h antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100130520 ; - skos:exactMatch HGNC_symbol:CD300H ; + skos:exactMatch UMLS:C4225450, + HGNC:52292, + HGNC_symbol:CD300H ; biolink:category biolink:Gene . OMIM:616561 a owl:Class ; rdfs:label "RASAL3" ; IAO:0000142 PMID:25652366 ; - oboInOwl:hasDbXref UMLS:C2678592 ; oboInOwl:hasExactSynonym "RASAL3", "ras protein activator-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64926 ; - skos:exactMatch HGNC_symbol:RASAL3 ; + skos:exactMatch UMLS:C2678592, + HGNC:26129, + HGNC_symbol:RASAL3 ; biolink:category biolink:Gene . OMIM:616563 a owl:Class ; @@ -345317,71 +359915,75 @@ OMIM:616563 a owl:Class ; IAO:0000142 PMID:10611247, PMID:23985322, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1420246 ; oboInOwl:hasExactSynonym "SLK", "kiaa0204", "long ste20-like protein kinase", "ste20-like protein kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9748 ; - skos:exactMatch HGNC_symbol:SLK ; + skos:exactMatch UMLS:C1420246, + HGNC:11088, + HGNC_symbol:SLK ; biolink:category biolink:Gene . OMIM:616564 a owl:Class ; rdfs:label "noonan syndrome 10" ; IAO:0000142 PMID:25795793, PMID:30368668 ; - oboInOwl:hasDbXref UMLS:C4225280 ; oboInOwl:hasExactSynonym "NS10", "noonan syndrome 10" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C4225280 ; biolink:category biolink:Disease . OMIM:616565 a owl:Class ; rdfs:label "ANKRD30B" ; IAO:0000142 PMID:11280766 ; - oboInOwl:hasDbXref UMLS:C1538288 ; oboInOwl:hasExactSynonym "ANKRD30B", "ankyrin repeat domain-containing protein 30b", "breast cancer antigen ny-br-1.1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374860 ; - skos:exactMatch HGNC_symbol:ANKRD30B ; + skos:exactMatch UMLS:C1538288, + HGNC:24165, + HGNC_symbol:ANKRD30B ; biolink:category biolink:Gene . OMIM:616567 a owl:Class ; rdfs:label "DAPK2" ; IAO:0000142 PMID:10629061, PMID:24163421 ; - oboInOwl:hasDbXref UMLS:C1413907 ; oboInOwl:hasExactSynonym "DAPK2", "dap kinase-related protein 1", "death-associated protein kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23604 ; - skos:exactMatch HGNC_symbol:DAPK2 ; + skos:exactMatch UMLS:C1413907, + HGNC:2675, + HGNC_symbol:DAPK2 ; biolink:category biolink:Gene . OMIM:616568 a owl:Class ; rdfs:label "glioma susceptibility 9" ; IAO:0000142 PMID:25482530 ; - oboInOwl:hasDbXref UMLS:C4225278 ; oboInOwl:hasExactSynonym "GLM9", "glioma susceptibility 9" ; rdfs:subClassOf OMIMPS:137800 ; + skos:exactMatch UMLS:C4225278 ; biolink:category biolink:Disease . OMIM:616569 a owl:Class ; rdfs:label "CSAD" ; IAO:0000142 PMID:11997111 ; - oboInOwl:hasDbXref UMLS:C1425926 ; oboInOwl:hasExactSynonym "CSAD", "csd", "cysteine sulfinic acid decarboxylase", "p-selectin cytoplasmic tail-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51380 ; - skos:exactMatch HGNC_symbol:CSAD ; + skos:exactMatch UMLS:C1425926, + HGNC:18966, + HGNC_symbol:CSAD ; biolink:category biolink:Gene . OMIM:616570 a owl:Class ; @@ -345390,50 +359992,52 @@ OMIM:616570 a owl:Class ; PMID:24700531, PMID:8818951, PMID:9096355 ; - oboInOwl:hasDbXref UMLS:C1851443 ; oboInOwl:hasExactSynonym "COFS3", "cerebrooculofacioskeletal syndrome 3" ; rdfs:subClassOf OMIMPS:214150 ; + skos:exactMatch UMLS:C1851443 ; biolink:category biolink:Disease . OMIM:616571 a owl:Class ; rdfs:label "CLEC18A" ; IAO:0000142 PMID:26170455 ; - oboInOwl:hasDbXref UMLS:C2681364 ; oboInOwl:hasExactSynonym "CLEC18A", "c-type lectin domain family 18, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348174 ; - skos:exactMatch HGNC_symbol:CLEC18A ; + skos:exactMatch UMLS:C2681364, + HGNC:30388, + HGNC_symbol:CLEC18A ; biolink:category biolink:Gene . OMIM:616572 a owl:Class ; rdfs:label "CLEC18B" ; IAO:0000142 PMID:26170455 ; - oboInOwl:hasDbXref UMLS:C2681365 ; oboInOwl:hasExactSynonym "CLEC18B", "c-type lectin domain family 18, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:497190 ; - skos:exactMatch HGNC_symbol:CLEC18B ; + skos:exactMatch UMLS:C2681365, + HGNC:33849, + HGNC_symbol:CLEC18B ; biolink:category biolink:Gene . OMIM:616573 a owl:Class ; rdfs:label "CLEC18C" ; IAO:0000142 PMID:26170455 ; - oboInOwl:hasDbXref UMLS:C2681366 ; oboInOwl:hasExactSynonym "CLEC18C", "c-type lectin domain family 18, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283971 ; - skos:exactMatch HGNC_symbol:CLEC18C ; + skos:exactMatch UMLS:C2681366, + HGNC:28538, + HGNC_symbol:CLEC18C ; biolink:category biolink:Gene . OMIM:616574 a owl:Class ; rdfs:label "MICOS10" ; IAO:0000142 PMID:22114354, PMID:23704930 ; - oboInOwl:hasDbXref UMLS:C3470957 ; oboInOwl:hasExactSynonym "MICOS10", "chromosome 1 open reading frame 51", "mic10", @@ -345444,20 +360048,23 @@ OMIM:616574 a owl:Class ; "mitochondrial inner membrane organizing system protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440574 ; - skos:exactMatch HGNC_symbol:MICOS10 ; + skos:exactMatch UMLS:C3470957, + HGNC:32068, + HGNC_symbol:MICOS10 ; biolink:category biolink:Gene . OMIM:616575 a owl:Class ; rdfs:label "LENG8" ; IAO:0000142 PMID:11572484, PMID:16239144 ; - oboInOwl:hasDbXref UMLS:C1423533 ; oboInOwl:hasExactSynonym "LENG8", "kiaa1932", "leukocyte receptor cluster gene 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114823 ; - skos:exactMatch HGNC_symbol:LENG8 ; + skos:exactMatch UMLS:C1423533, + HGNC:15500, + HGNC_symbol:LENG8 ; biolink:category biolink:Gene . OMIM:616578 a owl:Class ; @@ -345465,25 +360072,27 @@ OMIM:616578 a owl:Class ; IAO:0000142 PMID:21706167, PMID:22753936, PMID:24657165 ; - oboInOwl:hasDbXref UMLS:C1426816 ; oboInOwl:hasExactSynonym "ZBTB1", "zinc finger- and btb domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22890 ; - skos:exactMatch HGNC_symbol:ZBTB1 ; + skos:exactMatch UMLS:C1426816, + HGNC:20259, + HGNC_symbol:ZBTB1 ; biolink:category biolink:Gene . OMIM:616581 a owl:Class ; rdfs:label "KDM4E" ; IAO:0000142 PMID:23092293 ; - oboInOwl:hasDbXref UMLS:C3470535 ; oboInOwl:hasExactSynonym "KDM4E", "jumonji domain-containing protein 2e", "lysine demethylase 4e", "lysine-specific demethylase 4e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390245 ; - skos:exactMatch HGNC_symbol:KDM4E ; + skos:exactMatch UMLS:C3470535, + HGNC:37098, + HGNC_symbol:KDM4E ; biolink:category biolink:Gene . OMIM:616582 a owl:Class ; @@ -345493,13 +360102,14 @@ OMIM:616582 a owl:Class ; PMID:21245199, PMID:22252869, PMID:25882847 ; - oboInOwl:hasDbXref UMLS:C1825916 ; oboInOwl:hasExactSynonym "LSR", "immunoglobulin-like domain-containing receptor 3", "lipolysis-stimulated lipoprotein receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51599 ; - skos:exactMatch HGNC_symbol:LSR ; + skos:exactMatch UMLS:C1825916, + HGNC:29572, + HGNC_symbol:LSR ; biolink:category biolink:Gene . OMIM:616583 a owl:Class ; @@ -345509,17 +360119,16 @@ OMIM:616583 a owl:Class ; PMID:26420734, PMID:6430256, PMID:9592900 ; - oboInOwl:hasDbXref UMLS:C4225273 ; oboInOwl:hasExactSynonym "SEDSTN", "sed, stanescu iia", "spondyloepiphyseal dysplasia, stanescu iia" ; + skos:exactMatch UMLS:C4225273 ; biolink:category biolink:Disease . OMIM:616584 a owl:Class ; rdfs:label "SPATA31A7" ; IAO:0000142 PMID:16924657, PMID:20850414 ; - oboInOwl:hasDbXref UMLS:C2239406 ; oboInOwl:hasExactSynonym "SPATA31A7", "acrosome-expressed protein 1", "chromosome 9 open reading frame 36", @@ -345528,7 +360137,9 @@ OMIM:616584 a owl:Class ; "vad1.3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26165 ; - skos:exactMatch HGNC_symbol:SPATA31A7 ; + skos:exactMatch UMLS:C2239406, + HGNC:32007, + HGNC_symbol:SPATA31A7 ; biolink:category biolink:Gene . OMIM:616585 a owl:Class ; @@ -345538,61 +360149,66 @@ OMIM:616585 a owl:Class ; PMID:26497270 ; RO:0002525 CHR:9606chr16q13 ; RO:0003303 OMIM:616723 ; - oboInOwl:hasDbXref UMLS:C1826947 ; oboInOwl:hasExactSynonym "RSPRY1", "kiaa1972", "ring finger- and spry domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89970 ; - skos:exactMatch HGNC_symbol:RSPRY1 ; + skos:exactMatch UMLS:C1826947, + HGNC:29420, + HGNC_symbol:RSPRY1 ; biolink:category biolink:Gene . OMIM:616587 a owl:Class ; rdfs:label "FAM118B" ; IAO:0000142 PMID:24569877 ; - oboInOwl:hasDbXref UMLS:C1825252 ; oboInOwl:hasExactSynonym "FAM118B", "family with sequence similarity 118, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79607 ; - skos:exactMatch HGNC_symbol:FAM118B ; + skos:exactMatch UMLS:C1825252, + HGNC:26110, + HGNC_symbol:FAM118B ; biolink:category biolink:Gene . OMIM:616588 a owl:Class ; rdfs:label "DHFRL1" ; IAO:0000142 PMID:21876184 ; - oboInOwl:hasDbXref UMLS:C1539290 ; oboInOwl:hasExactSynonym "DHFRL1", "dihydrofolate reductase pseudogene 4, formerly", "dihydrofolate reductase-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200895 ; - skos:exactMatch HGNC_symbol:DHFR2 ; + skos:exactMatch UMLS:C1539290, + HGNC:27309, + HGNC_symbol:DHFR2 ; biolink:category biolink:Gene . OMIM:616590 a owl:Class ; rdfs:label "ZBTB5" ; IAO:0000142 PMID:19491398, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1428287 ; oboInOwl:hasExactSynonym "ZBTB5", "kiaa0354", "zinc finger- and btb domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9925 ; - skos:exactMatch HGNC_symbol:ZBTB5 ; + skos:exactMatch UMLS:C1428287, + HGNC:23836, + HGNC_symbol:ZBTB5 ; biolink:category biolink:Gene . OMIM:616591 a owl:Class ; rdfs:label "ZBTB7C" ; IAO:0000142 PMID:9427755 ; - oboInOwl:hasDbXref UMLS:C1538145 ; oboInOwl:hasExactSynonym "ZBTB7C", "affected by papillomavirus DNA integration 1n me180 cells", "zinc finger- and btb domain-containing protein 7c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201501 ; - skos:exactMatch HGNC_symbol:ZBTB7C ; + skos:exactMatch UMLS:C1538145, + HGNC:31700, + HGNC_symbol:ZBTB7C ; biolink:category biolink:Gene . OMIM:616592 a owl:Class ; @@ -345600,18 +360216,17 @@ OMIM:616592 a owl:Class ; IAO:0000142 PMID:21307714, PMID:25454926, PMID:28639748 ; - oboInOwl:hasDbXref UMLS:C4225270, - ORPHA:477831 ; oboInOwl:hasExactSynonym "KOGS", "kosaki overgrowth syndrome", "skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration" ; + skos:exactMatch UMLS:C4225270, + ORPHA:477831 ; biolink:category biolink:Disease . OMIM:616593 a owl:Class ; rdfs:label "C1QTNF12" ; IAO:0000142 PMID:21849507, PMID:22942287 ; - oboInOwl:hasDbXref UMLS:C1823201 ; oboInOwl:hasExactSynonym "C1QTNF12", "adipolin", "adipose-derived insulin-sensitizing factor", @@ -345621,7 +360236,9 @@ OMIM:616593 a owl:Class ; "family with sequence similarity 132, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388581 ; - skos:exactMatch HGNC_symbol:C1QTNF12 ; + skos:exactMatch UMLS:C1823201, + HGNC:32308, + HGNC_symbol:C1QTNF12 ; biolink:category biolink:Gene . OMIM:616594 a owl:Class ; @@ -345630,7 +360247,6 @@ OMIM:616594 a owl:Class ; PMID:16737952, PMID:18400762, PMID:24284654 ; - oboInOwl:hasDbXref UMLS:C1423113 ; oboInOwl:hasExactSynonym "ASAP3", "arf gtpase-activating protein with coiled-coil, ankyrin repeat, and pleckstrin homology domains 4", "arf gtpase-activating protein with sh3 domain, ankyrin repeat, and ph domain 3", @@ -345639,7 +360255,9 @@ OMIM:616594 a owl:Class ; "upregulated 1n liver cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55616 ; - skos:exactMatch HGNC_symbol:ASAP3 ; + skos:exactMatch UMLS:C1423113, + HGNC:14987, + HGNC_symbol:ASAP3 ; biolink:category biolink:Gene . OMIM:616595 a owl:Class ; @@ -345647,14 +360265,15 @@ OMIM:616595 a owl:Class ; IAO:0000142 PMID:10819331, PMID:19380588, PMID:24607898 ; - oboInOwl:hasDbXref UMLS:C1427175 ; oboInOwl:hasExactSynonym "ZBTB2", "kiaa1483", "zinc finger protein 437", "zinc finger- and btb domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57621 ; - skos:exactMatch HGNC_symbol:ZBTB2 ; + skos:exactMatch UMLS:C1427175, + HGNC:20868, + HGNC_symbol:ZBTB2 ; biolink:category biolink:Gene . OMIM:616596 a owl:Class ; @@ -345662,31 +360281,32 @@ OMIM:616596 a owl:Class ; IAO:0000142 PMID:15331635, PMID:16650381, PMID:25898167 ; - oboInOwl:hasDbXref UMLS:C1824210 ; oboInOwl:hasExactSynonym "ARL8B", "adp-ribosylation factor-like gtpase 8b", "small g protein indispensable for equal chromosome segregation 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55207 ; - skos:exactMatch HGNC_symbol:ARL8B ; + skos:exactMatch UMLS:C1824210, + HGNC:25564, + HGNC_symbol:ARL8B ; biolink:category biolink:Gene . OMIM:616597 a owl:Class ; rdfs:label "ARL8A" ; IAO:0000142 PMID:15331635 ; - oboInOwl:hasDbXref UMLS:C1824209 ; oboInOwl:hasExactSynonym "ARL8A", "adp-ribosylation factor-like gtpase 8a", "small g protein indispensable for equal chromosome segregation 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127829 ; - skos:exactMatch HGNC_symbol:ARL8A ; + skos:exactMatch UMLS:C1824209, + HGNC:25192, + HGNC_symbol:ARL8A ; biolink:category biolink:Gene . OMIM:616598 a owl:Class ; rdfs:label "BORCS5" ; IAO:0000142 PMID:25898167 ; - oboInOwl:hasDbXref UMLS:C1425197 ; oboInOwl:hasExactSynonym "BORCS5", "bloc1-related complex, subunit 5", "borc, subunit 5", @@ -345694,14 +360314,15 @@ OMIM:616598 a owl:Class ; "myristoylated lysosomal protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118426 ; - skos:exactMatch HGNC_symbol:BORCS5 ; + skos:exactMatch UMLS:C1425197, + HGNC:17950, + HGNC_symbol:BORCS5 ; biolink:category biolink:Gene . OMIM:616599 a owl:Class ; rdfs:label "BORCS6" ; IAO:0000142 PMID:25898167, PMID:26299971 ; - oboInOwl:hasDbXref UMLS:C1824451 ; oboInOwl:hasExactSynonym "BORCS6", "bloc1-related complex, subunit 6", "borc, subunit 6", @@ -345709,13 +360330,14 @@ OMIM:616599 a owl:Class ; "lysosome-dispersing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54785 ; - skos:exactMatch HGNC_symbol:BORCS6 ; + skos:exactMatch UMLS:C1824451, + HGNC:25939, + HGNC_symbol:BORCS6 ; biolink:category biolink:Gene . OMIM:616600 a owl:Class ; rdfs:label "BORCS7" ; IAO:0000142 PMID:25898167 ; - oboInOwl:hasDbXref UMLS:C1428118 ; oboInOwl:hasExactSynonym "BORCS7", "bloc1-related complex, subunit 7", "borc, subunit 7", @@ -345723,64 +360345,68 @@ OMIM:616600 a owl:Class ; "diaskedin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119032 ; - skos:exactMatch HGNC_symbol:BORCS7 ; + skos:exactMatch UMLS:C1428118, + HGNC:23516, + HGNC_symbol:BORCS7 ; biolink:category biolink:Gene . OMIM:616601 a owl:Class ; rdfs:label "BORCS8" ; IAO:0000142 PMID:25898167 ; - oboInOwl:hasDbXref UMLS:C4085290 ; oboInOwl:hasExactSynonym "BORCS8", "bloc1-related complex, subunit 8", "borc, subunit 8", "mef2b neighbor gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729991 ; - skos:exactMatch HGNC_symbol:BORCS8 ; + skos:exactMatch UMLS:C4085290, + HGNC:37247, + HGNC_symbol:BORCS8 ; biolink:category biolink:Gene . OMIM:616602 a owl:Class ; rdfs:label "craniosynostosis 6" ; IAO:0000142 PMID:23438589, PMID:26340333 ; - oboInOwl:hasDbXref UMLS:C4225269, - ORPHA:35098, - ORPHA:35099, - ORPHA:63440 ; oboInOwl:hasExactSynonym "CRS6", "craniosynostosis 6" ; rdfs:subClassOf OMIMPS:123100 ; + skos:exactMatch UMLS:C4225269, + ORPHA:35098, + ORPHA:35099, + ORPHA:63440 ; biolink:category biolink:Disease . OMIM:616603 a owl:Class ; rdfs:label "cutis laxa, autosomal dominant 3" ; IAO:0000142 PMID:26320891, PMID:9643297 ; - oboInOwl:hasDbXref UMLS:C4225268 ; oboInOwl:hasExactSynonym "ADCL3", "cutis laxa, autosomal dominant 3" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C4225268 ; biolink:category biolink:Disease . OMIM:616604 a owl:Class ; rdfs:label "chromosome 14q32 duplication syndrome, 700-kb" ; IAO:0000142 PMID:26280900 ; RO:0002525 CHR:9606chr14q32 ; - oboInOwl:hasDbXref UMLS:C4225449 ; oboInOwl:hasExactSynonym "chromosome 14q32 duplication syndrome, 700-kb", "myeloproliferative neoplasms, familial, susceptibility to" ; + skos:exactMatch UMLS:C4225449 ; biolink:category biolink:Disease . OMIM:616605 a owl:Class ; rdfs:label "GSKIP" ; IAO:0000142 PMID:16981698 ; - oboInOwl:hasDbXref UMLS:C1423043 ; oboInOwl:hasExactSynonym "GSKIP", "chromosome 14 open reading frame 129", "gsk3b-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51527 ; - skos:exactMatch HGNC_symbol:GSKIP ; + skos:exactMatch UMLS:C1423043, + HGNC:20343, + HGNC_symbol:GSKIP ; biolink:category biolink:Gene . OMIM:616606 a owl:Class ; @@ -345792,94 +360418,101 @@ OMIM:616606 a owl:Class ; PMID:7277427, PMID:9587928 ; RO:0002525 CHR:9606chrChr.14 ; - oboInOwl:hasDbXref UMLS:C2930916 ; oboInOwl:hasExactSynonym "ring chromosome 14 syndrome" ; + skos:exactMatch UMLS:C2930916 ; biolink:category biolink:Disease . OMIM:616607 a owl:Class ; rdfs:label "KBTBD8" ; IAO:0000142 PMID:11347906, PMID:26399832 ; - oboInOwl:hasDbXref UMLS:C1825642 ; oboInOwl:hasExactSynonym "KBTBD8", "kelch repeat- and btb/poz domain-containing protein 8", "kiaa1842", "t-cell activation kelch repeat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84541 ; - skos:exactMatch HGNC_symbol:KBTBD8 ; + skos:exactMatch UMLS:C1825642, + HGNC:30691, + HGNC_symbol:KBTBD8 ; biolink:category biolink:Gene . OMIM:616608 a owl:Class ; rdfs:label "MACIR" ; - oboInOwl:hasDbXref UMLS:C1824191 ; oboInOwl:hasExactSynonym "MACIR", "chromosome 5 open reading frame 30", "macrophage immunometabolism regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90355 ; - skos:exactMatch HGNC_symbol:MACIR ; + skos:exactMatch UMLS:C1824191, + HGNC:25052, + HGNC_symbol:MACIR ; biolink:category biolink:Gene . OMIM:616609 a owl:Class ; rdfs:label "TMEM65" ; IAO:0000142 PMID:24765583, PMID:26403541 ; - oboInOwl:hasDbXref UMLS:C1823329 ; oboInOwl:hasExactSynonym "TMEM65", "transmembrane protein 65" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157378 ; - skos:exactMatch HGNC_symbol:TMEM65 ; + skos:exactMatch UMLS:C1823329, + HGNC:25203, + HGNC_symbol:TMEM65 ; biolink:category biolink:Gene . OMIM:616610 a owl:Class ; rdfs:label "CASC15" ; IAO:0000142 PMID:24039610, PMID:26016895 ; - oboInOwl:hasDbXref UMLS:C3811556 ; oboInOwl:hasExactSynonym "CASC15", "cancer susceptibility candidate 15, noncoding", "lincrna 340", "long intergenic noncoding RNA 340: linc00340" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401237 ; - skos:exactMatch HGNC_symbol:CASC15 ; + skos:exactMatch UMLS:C3811556, + HGNC:28245, + HGNC_symbol:CASC15 ; biolink:category biolink:Gene . OMIM:616611 a owl:Class ; rdfs:label "LINC00461" ; IAO:0000142 PMID:25209608 ; - oboInOwl:hasDbXref UMLS:C3470764 ; oboInOwl:hasExactSynonym "LINC00461", "lincrna 461", "long intergenic noncoding RNA 461", "visual cortex-expressed gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645323 ; - skos:exactMatch HGNC_symbol:LINC00461 ; + skos:exactMatch UMLS:C3470764, + HGNC:42810, + HGNC_symbol:LINC00461 ; biolink:category biolink:Gene . OMIM:616612 a owl:Class ; rdfs:label "COL6A4P2" ; IAO:0000142 PMID:18276594 ; - oboInOwl:hasDbXref UMLS:C3146960 ; oboInOwl:hasExactSynonym "COL6A4P2", "collagen, iia vi, alpha-4, pseudogene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:646300 ; - skos:exactMatch HGNC_symbol:COL6A4P2 ; + skos:exactMatch UMLS:C3146960, + HGNC:38501, + HGNC_symbol:COL6A4P2 ; biolink:category biolink:Gene . OMIM:616613 a owl:Class ; rdfs:label "COL6A6" ; IAO:0000142 PMID:18276594 ; - oboInOwl:hasDbXref UMLS:C2829172 ; oboInOwl:hasExactSynonym "COL6A6", "collagen, iia vi, alpha-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131873 ; - skos:exactMatch HGNC_symbol:COL6A6 ; + skos:exactMatch UMLS:C2829172, + HGNC:27023, + HGNC_symbol:COL6A6 ; biolink:category biolink:Gene . OMIM:616614 a owl:Class ; @@ -345887,13 +360520,14 @@ OMIM:616614 a owl:Class ; IAO:0000142 PMID:27067600, PMID:32028527, PMID:32939087 ; - oboInOwl:hasDbXref UMLS:C1824170 ; oboInOwl:hasExactSynonym "HPF1", "chromosome 4 open reading frame 27", "histone parylation factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54969 ; - skos:exactMatch HGNC_symbol:HPF1 ; + skos:exactMatch UMLS:C1824170, + HGNC:26051, + HGNC_symbol:HPF1 ; biolink:category biolink:Gene . OMIM:616615 a owl:Class ; @@ -345907,13 +360541,14 @@ OMIM:616615 a owl:Class ; PMID:31705726 ; RO:0002525 CHR:9606chr8p21.3 ; RO:0003303 OMIM:618870 ; - oboInOwl:hasDbXref UMLS:C2239313, - UMLS:C5394341 ; oboInOwl:hasExactSynonym "CSGALNACT1", "chondroitin sulfate n-acetylgalactosaminyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55790 ; - skos:exactMatch HGNC_symbol:CSGALNACT1 ; + skos:exactMatch UMLS:C2239313, + UMLS:C5394341, + HGNC:24290, + HGNC_symbol:CSGALNACT1 ; biolink:category biolink:Gene . OMIM:616616 a owl:Class ; @@ -345921,12 +360556,13 @@ OMIM:616616 a owl:Class ; IAO:0000142 PMID:11788602, PMID:12433924, PMID:12446672 ; - oboInOwl:hasDbXref UMLS:C2239314 ; oboInOwl:hasExactSynonym "CSGALNACT2", "chondroitin sulfate n-acetylgalactosaminyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55454 ; - skos:exactMatch HGNC_symbol:CSGALNACT2 ; + skos:exactMatch UMLS:C2239314, + HGNC:24292, + HGNC_symbol:CSGALNACT2 ; biolink:category biolink:Gene . OMIM:616617 a owl:Class ; @@ -345934,12 +360570,12 @@ OMIM:616617 a owl:Class ; IAO:0000142 PMID:16530715, PMID:26387595, PMID:26593283 ; - oboInOwl:hasDbXref UMLS:C4225267, - ORPHA:3220 ; oboInOwl:hasExactSynonym "HMLR2", "heimler syndrome 2", "peroxisome biogenesis disorder 4c" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C4225267, + ORPHA:3220 ; biolink:category biolink:Disease . OMIM:616618 a owl:Class ; @@ -345952,20 +360588,20 @@ OMIM:616618 a owl:Class ; PMID:27899449 ; RO:0002525 CHR:9606chr10p12.1 ; RO:0003303 OMIM:618863 ; - oboInOwl:hasDbXref UMLS:C1428043, - UMLS:C5394315 ; oboInOwl:hasExactSynonym "ACBD5", "acyl-coa-binding domain-containing protein 5", "kiaa1996" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91452 ; - skos:exactMatch HGNC_symbol:ACBD5 ; + skos:exactMatch UMLS:C1428043, + UMLS:C5394315, + HGNC:23338, + HGNC_symbol:ACBD5 ; biolink:category biolink:Gene . OMIM:616619 a owl:Class ; rdfs:label "DUBR" ; IAO:0000142 PMID:25686699 ; - oboInOwl:hasDbXref UMLS:C4085160 ; oboInOwl:hasExactSynonym "DUBR", "dppa2 upstream-binding muscle long noncoding RNA", "dppa2 upstream-binding rna, noncoding", @@ -345973,7 +360609,9 @@ OMIM:616619 a owl:Class ; "long intergenic noncoding RNA 883" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344595 ; - skos:exactMatch HGNC_symbol:DUBR ; + skos:exactMatch UMLS:C4085160, + HGNC:48569, + HGNC_symbol:DUBR ; biolink:category biolink:Gene . OMIM:616620 a owl:Class ; @@ -345981,18 +360619,18 @@ OMIM:616620 a owl:Class ; IAO:0000142 PMID:11827460, PMID:16043514, PMID:25825154 ; - oboInOwl:hasDbXref UMLS:C1422404 ; oboInOwl:hasExactSynonym "WDR12", "wd repeat-containing protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55759 ; - skos:exactMatch HGNC_symbol:WDR12 ; + skos:exactMatch UMLS:C1422404, + HGNC:14098, + HGNC_symbol:WDR12 ; biolink:category biolink:Gene . OMIM:616621 a owl:Class ; rdfs:label "DDX27" ; IAO:0000142 PMID:25825154 ; - oboInOwl:hasDbXref UMLS:C1423765 ; oboInOwl:hasExactSynonym "DDX27", "RNA helicase-like protein", "dead-box helicase 27", @@ -346000,58 +360638,63 @@ OMIM:616621 a owl:Class ; "dead/h box polypeptide 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55661 ; - skos:exactMatch HGNC_symbol:DDX27 ; + skos:exactMatch UMLS:C1423765, + HGNC:15837, + HGNC_symbol:DDX27 ; biolink:category biolink:Gene . OMIM:616623 a owl:Class ; rdfs:label "FAM30A" ; IAO:0000142 PMID:26448925, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1426557 ; oboInOwl:hasExactSynonym "FAM30A", "chromosome 14 open reading frame 110", "family with sequence similarity 30, member a", "kiaa0125" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9834 ; - skos:exactMatch HGNC_symbol:FAM30A ; + skos:exactMatch UMLS:C1426557, + HGNC:19955, + HGNC_symbol:FAM30A ; biolink:category biolink:Gene . OMIM:616624 a owl:Class ; rdfs:label "NCBP3" ; IAO:0000142 PMID:26382858 ; - oboInOwl:hasDbXref UMLS:C1824477 ; oboInOwl:hasExactSynonym "NCBP3", "chromosome 17 open reading frame 85", "nuclear cap-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55421 ; - skos:exactMatch HGNC_symbol:NCBP3 ; + skos:exactMatch UMLS:C1824477, + HGNC:24612, + HGNC_symbol:NCBP3 ; biolink:category biolink:Gene . OMIM:616625 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2w" ; IAO:0000142 PMID:22930593, PMID:26072516 ; - oboInOwl:hasDbXref UMLS:C4225265 ; oboInOwl:hasExactSynonym "CMT2W", "charcot-marie-tooth disease, axonal, iia 2w", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2w", "charcot-marie-tooth neuropathy, iia 2w" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4225265 ; biolink:category biolink:Disease . OMIM:616626 a owl:Class ; rdfs:label "CERCAM" ; IAO:0000142 PMID:10608765 ; - oboInOwl:hasDbXref UMLS:C1428224 ; oboInOwl:hasExactSynonym "CERCAM", "ceecam", "cerebral endothelial cell adhesion molecule", "glycosyltransferase 25 family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51148 ; - skos:exactMatch HGNC_symbol:CERCAM ; + skos:exactMatch UMLS:C1428224, + HGNC:23723, + HGNC_symbol:CERCAM ; biolink:category biolink:Gene . OMIM:616627 a owl:Class ; @@ -346059,13 +360702,14 @@ OMIM:616627 a owl:Class ; IAO:0000142 PMID:10722749, PMID:12889478, PMID:18606703 ; - oboInOwl:hasDbXref UMLS:C1538690 ; oboInOwl:hasExactSynonym "PODXL2", "endoglycan", "podocalyxin-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50512 ; - skos:exactMatch HGNC_symbol:PODXL2 ; + skos:exactMatch UMLS:C1538690, + HGNC:17936, + HGNC_symbol:PODXL2 ; biolink:category biolink:Gene . OMIM:616628 a owl:Class ; @@ -346073,8 +360717,6 @@ OMIM:616628 a owl:Class ; IAO:0000142 PMID:19659802, PMID:23917203, PMID:26026268 ; - oboInOwl:hasDbXref UMLS:C2828851, - UMLS:C4225264 ; oboInOwl:hasExactSynonym "FAM220A", "acrosomal protein 1", "chromosome 7 open reading frame 70", @@ -346083,20 +360725,24 @@ OMIM:616628 a owl:Class ; "stat3-interacting protein as a repressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84792 ; - skos:exactMatch HGNC_symbol:FAM220A ; + skos:exactMatch UMLS:C2828851, + UMLS:C4225264, + HGNC:22422, + HGNC_symbol:FAM220A ; biolink:category biolink:Gene . OMIM:616630 a owl:Class ; rdfs:label "NRSN1" ; IAO:0000142 PMID:12463420, PMID:26430118 ; - oboInOwl:hasDbXref UMLS:C1826471 ; oboInOwl:hasExactSynonym "NRSN1", "neurensin 1", "vesicular membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140767 ; - skos:exactMatch HGNC_symbol:NRSN1 ; + skos:exactMatch UMLS:C1826471, + HGNC:17881, + HGNC_symbol:NRSN1 ; biolink:category biolink:Gene . OMIM:616633 a owl:Class ; @@ -346104,61 +360750,65 @@ OMIM:616633 a owl:Class ; IAO:0000142 PMID:10574462 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:619539 ; - oboInOwl:hasDbXref UMLS:C1826716 ; oboInOwl:hasExactSynonym "PRR12", "kiaa1205", "proline-rich protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57479 ; - skos:exactMatch HGNC_symbol:PRR12 ; + skos:exactMatch UMLS:C1826716, + HGNC:29217, + HGNC_symbol:PRR12 ; biolink:category biolink:Gene . OMIM:616634 a owl:Class ; rdfs:label "SNED1" ; IAO:0000142 PMID:15162516 ; - oboInOwl:hasDbXref UMLS:C1539798 ; oboInOwl:hasExactSynonym "SNED1", "stromal nidogen extracellular matrix protein", "sushi, nidogen, and egf-like domains protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25992 ; - skos:exactMatch HGNC_symbol:SNED1 ; + skos:exactMatch UMLS:C1539798, + HGNC:24696, + HGNC_symbol:SNED1 ; biolink:category biolink:Gene . OMIM:616635 a owl:Class ; rdfs:label "CYHR1" ; IAO:0000142 PMID:10745073, PMID:9455484 ; - oboInOwl:hasDbXref UMLS:C1425090 ; oboInOwl:hasExactSynonym "CYHR1", "chrp", "cysteine- and histidine-rich protein 1", "kiaa0496" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50626 ; - skos:exactMatch HGNC_symbol:CYHR1 ; + skos:exactMatch UMLS:C1425090, + HGNC:17806, + HGNC_symbol:CYHR1 ; biolink:category biolink:Gene . OMIM:616636 a owl:Class ; rdfs:label "immunodeficiency 44" ; IAO:0000142 PMID:23391734, PMID:26122121 ; - oboInOwl:hasDbXref UMLS:C4225260 ; oboInOwl:hasExactSynonym "IMD44", "immunodeficiency 44" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4225260 ; biolink:category biolink:Disease . OMIM:616637 a owl:Class ; rdfs:label "TBC1D16" ; IAO:0000142 PMID:23019362, PMID:26030178 ; - oboInOwl:hasDbXref UMLS:C1428693 ; oboInOwl:hasExactSynonym "TBC1D16", "tbc1 domain family, member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125058 ; - skos:exactMatch HGNC_symbol:TBC1D16 ; + skos:exactMatch UMLS:C1428693, + HGNC:28356, + HGNC_symbol:TBC1D16 ; biolink:category biolink:Gene . OMIM:616639 a owl:Class ; @@ -346169,26 +360819,28 @@ OMIM:616639 a owl:Class ; PMID:22961547 ; RO:0002525 CHR:9606chr4q21.21 ; RO:0003303 OMIM:616640 ; - oboInOwl:hasDbXref UMLS:C1422330 ; oboInOwl:hasExactSynonym "PRDM8", "pr domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56978 ; - skos:exactMatch HGNC_symbol:PRDM8 ; + skos:exactMatch UMLS:C1422330, + HGNC:13993, + HGNC_symbol:PRDM8 ; biolink:category biolink:Gene . OMIM:616641 a owl:Class ; rdfs:label "RNF141" ; IAO:0000142 PMID:11672448, PMID:12804569 ; - oboInOwl:hasDbXref UMLS:C1427374 ; oboInOwl:hasExactSynonym "RNF141", "ring finger protein 141", "zfp2", "zinc finger protein 230" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50862 ; - skos:exactMatch HGNC_symbol:RNF141 ; + skos:exactMatch UMLS:C1427374, + HGNC:21159, + HGNC_symbol:RNF141 ; biolink:category biolink:Gene . OMIM:616642 a owl:Class ; @@ -346196,14 +360848,15 @@ OMIM:616642 a owl:Class ; IAO:0000142 PMID:21857995, PMID:23460338, PMID:26460487 ; - oboInOwl:hasDbXref UMLS:C1427330 ; oboInOwl:hasExactSynonym "C6ORF89", "amfion", "bombesin receptor-activated protein", "c6orf89 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221477 ; - skos:exactMatch HGNC_symbol:C6orf89 ; + skos:exactMatch UMLS:C1427330, + HGNC:21114, + HGNC_symbol:C6orf89 ; biolink:category biolink:Gene . OMIM:616643 a owl:Class ; @@ -346211,13 +360864,14 @@ OMIM:616643 a owl:Class ; IAO:0000142 PMID:10581169, PMID:19237540, PMID:24012673 ; - oboInOwl:hasDbXref UMLS:C4225448 ; oboInOwl:hasExactSynonym "hdgfrp3", "hepatoma-derived growth factor-related protein 3", "hrp3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50810 ; - skos:exactMatch HGNC_symbol:HDGFL3 ; + skos:exactMatch UMLS:C4225448, + HGNC:24937, + HGNC_symbol:HDGFL3 ; biolink:category biolink:Gene . OMIM:616644 a owl:Class ; @@ -346225,25 +360879,26 @@ OMIM:616644 a owl:Class ; IAO:0000142 PMID:10542259, PMID:12401800, PMID:15184879 ; - oboInOwl:hasDbXref UMLS:C1425190 ; oboInOwl:hasExactSynonym "CUZD1", "cub and zona pellucida-like domains 1", "estrogen-regulated gene", "integral membrane-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50624 ; - skos:exactMatch HGNC_symbol:CUZD1 ; + skos:exactMatch UMLS:C1425190, + HGNC:17937, + HGNC_symbol:CUZD1 ; biolink:category biolink:Gene . OMIM:616645 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 34" ; IAO:0000142 PMID:26333769 ; - oboInOwl:hasDbXref UMLS:C4225257, - ORPHA:293181 ; oboInOwl:hasExactSynonym "DEE34", "developmental and epileptic encephalopathy 34", "epileptic encephalopathy, early infantile, 34" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4225257, + ORPHA:293181 ; biolink:category biolink:Disease . OMIM:616646 a owl:Class ; @@ -346256,7 +360911,6 @@ OMIM:616646 a owl:Class ; PMID:26902920 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:616760 ; - oboInOwl:hasDbXref UMLS:C1825743 ; oboInOwl:hasExactSynonym "KRT25", "irsa1", "k10c", @@ -346266,18 +360920,20 @@ OMIM:616646 a owl:Class ; "keratin 25, inner root sheath, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147183 ; - skos:exactMatch HGNC_symbol:KRT25 ; + skos:exactMatch UMLS:C1825743, + HGNC:30839, + HGNC_symbol:KRT25 ; biolink:category biolink:Gene . OMIM:616647 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 35" ; IAO:0000142 PMID:26224535 ; - oboInOwl:hasDbXref UMLS:C4225256, - ORPHA:457375 ; oboInOwl:hasExactSynonym "DEE35", "developmental and epileptic encephalopathy 35", "epileptic encephalopathy, early infantile, 35" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4225256, + ORPHA:457375 ; biolink:category biolink:Disease . OMIM:616650 a owl:Class ; @@ -346287,14 +360943,15 @@ OMIM:616650 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr16p12.1 ; RO:0003303 OMIM:616784 ; - oboInOwl:hasDbXref UMLS:C1825666, - UMLS:C4084843 ; oboInOwl:hasExactSynonym "KATNIP", "katanin-interacting protein", "kiaa0556" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23247 ; - skos:exactMatch HGNC_symbol:KATNIP ; + skos:exactMatch UMLS:C1825666, + UMLS:C4084843, + HGNC:29068, + HGNC_symbol:KATNIP ; biolink:category biolink:Gene . OMIM:616652 a owl:Class ; @@ -346305,22 +360962,23 @@ OMIM:616652 a owl:Class ; PMID:26544804, PMID:9934986 ; RO:0002525 CHR:9606chr17p12-p11.2 ; - oboInOwl:hasDbXref UMLS:C4225255 ; oboInOwl:hasExactSynonym "YUHAL", "yuan-harel-lupski syndrome" ; + skos:exactMatch UMLS:C4225255 ; biolink:category biolink:Disease . OMIM:616653 a owl:Class ; rdfs:label "PNISR" ; IAO:0000142 PMID:14578391 ; - oboInOwl:hasDbXref UMLS:C3471412 ; oboInOwl:hasExactSynonym "PNISR", "pnn-interacting serine/arginine-rich protein", "serine/arginine-rich splicing regulatory protein, 130-kd", "splicing factor, arginine/serine-rich, 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25957 ; - skos:exactMatch HGNC_symbol:PNISR ; + skos:exactMatch UMLS:C3471412, + HGNC:21222, + HGNC_symbol:PNISR ; biolink:category biolink:Gene . OMIM:616655 a owl:Class ; @@ -346330,7 +360988,6 @@ OMIM:616655 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr19q13.13-q13.2 ; RO:0003303 OMIM:616851 ; - oboInOwl:hasDbXref UMLS:C1428269 ; oboInOwl:hasExactSynonym "SIPA1L3", "kiaa0545", "sipa1-like protein 3", @@ -346338,7 +360995,9 @@ OMIM:616655 a owl:Class ; "spar3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23094 ; - skos:exactMatch HGNC_symbol:SIPA1L3 ; + skos:exactMatch UMLS:C1428269, + HGNC:23801, + HGNC_symbol:SIPA1L3 ; biolink:category biolink:Gene . OMIM:616656 a owl:Class ; @@ -346346,13 +361005,14 @@ OMIM:616656 a owl:Class ; IAO:0000142 PMID:15799966, PMID:21778237, PMID:23563313 ; - oboInOwl:hasDbXref UMLS:C1428547 ; oboInOwl:hasExactSynonym "COMMD8", "comm domain-containing protein 8", "copper metabolism murr1 domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54951 ; - skos:exactMatch HGNC_symbol:COMMD8 ; + skos:exactMatch UMLS:C1428547, + HGNC:26036, + HGNC_symbol:COMMD8 ; biolink:category biolink:Gene . OMIM:616658 a owl:Class ; @@ -346363,7 +361023,6 @@ OMIM:616658 a owl:Class ; PMID:29618761 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:618329 ; - oboInOwl:hasDbXref UMLS:C2681313 ; oboInOwl:hasExactSynonym "MICOS13", "chromosome 19 open reading frame 70", "mic13", @@ -346372,29 +361031,33 @@ OMIM:616658 a owl:Class ; "qil1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125988 ; - skos:exactMatch HGNC_symbol:MICOS13 ; + skos:exactMatch UMLS:C2681313, + HGNC:33702, + HGNC_symbol:MICOS13 ; biolink:category biolink:Gene . OMIM:616659 a owl:Class ; rdfs:label "TBC1D17" ; IAO:0000142 PMID:19672125, PMID:22854040 ; - oboInOwl:hasDbXref UMLS:C1428512 ; oboInOwl:hasExactSynonym "TBC1D17", "tbc1 domain family, member 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79735 ; - skos:exactMatch HGNC_symbol:TBC1D17 ; + skos:exactMatch UMLS:C1428512, + HGNC:25699, + HGNC_symbol:TBC1D17 ; biolink:category biolink:Gene . OMIM:616660 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:26317472 ; - oboInOwl:hasDbXref UMLS:C4225665 ; oboInOwl:hasExactSynonym "transmembrane protein 175: tmem175" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84286 ; - skos:exactMatch HGNC_symbol:TMEM175 ; + skos:exactMatch UMLS:C4225665, + HGNC:28709, + HGNC_symbol:TMEM175 ; biolink:category biolink:Gene . OMIM:616661 a owl:Class ; @@ -346416,7 +361079,6 @@ OMIM:616661 a owl:Class ; PMID:7964809 ; RO:0002525 CHR:9606chr22q12.2 ; RO:0003303 OMIM:619090 ; - oboInOwl:hasDbXref UMLS:C1826266 ; oboInOwl:hasExactSynonym "MORC2", "kiaa0852", "microrchidia, mouse, homolog of, 2", @@ -346425,19 +361087,22 @@ OMIM:616661 a owl:Class ; "zinc finger cw domain- and coiled-coil domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22880 ; - skos:exactMatch HGNC_symbol:MORC2 ; + skos:exactMatch UMLS:C1826266, + HGNC:23573, + HGNC_symbol:MORC2 ; biolink:category biolink:Gene . OMIM:616662 a owl:Class ; rdfs:label "THUMPD1" ; IAO:0000142 PMID:25653167 ; - oboInOwl:hasDbXref UMLS:C1539961 ; oboInOwl:hasExactSynonym "THUMPD1", "tan1, yeast, homolog of", "thump domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55623 ; - skos:exactMatch HGNC_symbol:THUMPD1 ; + skos:exactMatch UMLS:C1539961, + HGNC:23807, + HGNC_symbol:THUMPD1 ; biolink:category biolink:Gene . OMIM:616663 a owl:Class ; @@ -346448,27 +361113,29 @@ OMIM:616663 a owl:Class ; PMID:32359472 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:614561 ; - oboInOwl:hasDbXref UMLS:C1823074, - UMLS:C3281200 ; oboInOwl:hasExactSynonym "SNORD118", "small nucleolar rna, c/d box, 118", "snorna, u8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:727676 ; - skos:exactMatch HGNC_symbol:SNORD118 ; + skos:exactMatch UMLS:C1823074, + UMLS:C3281200, + HGNC:32952, + HGNC_symbol:SNORD118 ; biolink:category biolink:Gene . OMIM:616664 a owl:Class ; rdfs:label "SNORD13" ; IAO:0000142 PMID:2531075, PMID:25653167 ; - oboInOwl:hasDbXref UMLS:C1822917 ; oboInOwl:hasExactSynonym "SNORD13", "small nucleolar rna, c/d box, 13", "snorna, u13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:692084 ; - skos:exactMatch HGNC_symbol:SNORD13 ; + skos:exactMatch UMLS:C1822917, + HGNC:32711, + HGNC_symbol:SNORD13 ; biolink:category biolink:Gene . OMIM:616665 a owl:Class ; @@ -346477,14 +361144,15 @@ OMIM:616665 a owl:Class ; PMID:1730063, PMID:8034131, PMID:8707851 ; - oboInOwl:hasDbXref UMLS:C1823163 ; oboInOwl:hasExactSynonym "SYPL1", "pantophysin", "synaptophysin-like 1", "sypl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6856 ; - skos:exactMatch HGNC_symbol:SYPL1 ; + skos:exactMatch UMLS:C1823163, + HGNC:11507, + HGNC_symbol:SYPL1 ; biolink:category biolink:Gene . OMIM:616666 a owl:Class ; @@ -346492,45 +361160,47 @@ OMIM:616666 a owl:Class ; IAO:0000142 PMID:12351182, PMID:16814779, PMID:7488116 ; - oboInOwl:hasDbXref UMLS:C1423859 ; oboInOwl:hasExactSynonym "SEZ6", "brain-specific receptor-like protein c", "seizure-related 6, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124925 ; - skos:exactMatch HGNC_symbol:SEZ6 ; + skos:exactMatch UMLS:C1423859, + HGNC:15955, + HGNC_symbol:SEZ6 ; biolink:category biolink:Gene . OMIM:616667 a owl:Class ; rdfs:label "SEZ6L2" ; IAO:0000142 PMID:16814779 ; - oboInOwl:hasDbXref UMLS:C1539758 ; oboInOwl:hasExactSynonym "SEZ6L2", "brain-specific receptor-like protein a", "sez6-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26470 ; - skos:exactMatch HGNC_symbol:SEZ6L2 ; + skos:exactMatch UMLS:C1539758, + HGNC:30844, + HGNC_symbol:SEZ6L2 ; biolink:category biolink:Gene . OMIM:616668 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2x" ; IAO:0000142 PMID:26556829 ; - oboInOwl:hasDbXref UMLS:C4225253 ; oboInOwl:hasExactSynonym "CMT2X", "charcot-marie-tooth disease, axonal, iia 2x", "charcot-marie-tooth disease, axonal, autosomal recessive, iia 2x", "charcot-marie-tooth neuropathy, iia 2x" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4225253 ; biolink:category biolink:Disease . OMIM:616669 a owl:Class ; rdfs:label "immunodeficiency 45" ; IAO:0000142 PMID:26424569 ; - oboInOwl:hasDbXref UMLS:C4225252 ; oboInOwl:hasExactSynonym "IMD45", "immunodeficiency 45" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4225252 ; biolink:category biolink:Disease . OMIM:616670 a owl:Class ; @@ -346540,7 +361210,6 @@ OMIM:616670 a owl:Class ; PMID:17672888, PMID:19255425, PMID:25787254 ; - oboInOwl:hasDbXref UMLS:C1539471 ; oboInOwl:hasExactSynonym "ESYT1", "extended synaptotagmin 1", "extended synaptotagmin-like protein 1", @@ -346548,7 +361217,9 @@ OMIM:616670 a owl:Class ; "membrane-bound c2 domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23344 ; - skos:exactMatch HGNC_symbol:ESYT1 ; + skos:exactMatch UMLS:C1539471, + HGNC:29534, + HGNC_symbol:ESYT1 ; biolink:category biolink:Gene . OMIM:616671 a owl:Class ; @@ -346556,7 +361227,6 @@ OMIM:616671 a owl:Class ; IAO:0000142 PMID:1282112, PMID:15737194, PMID:25340345 ; - oboInOwl:hasDbXref UMLS:C1825764 ; oboInOwl:hasExactSynonym "KRT76", "cytokeratin 2p", "k2p", @@ -346565,34 +361235,38 @@ OMIM:616671 a owl:Class ; "keratin 76, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51350 ; - skos:exactMatch HGNC_symbol:KRT76 ; + skos:exactMatch UMLS:C1825764, + HGNC:24430, + HGNC_symbol:KRT76 ; biolink:category biolink:Gene . OMIM:616673 a owl:Class ; rdfs:label "SKA1" ; IAO:0000142 PMID:17093495 ; - oboInOwl:hasDbXref UMLS:C1540267 ; oboInOwl:hasExactSynonym "SKA1", "chromosome 18 open reading frame 24", "spindle- and kinetochore-associated complex, subunit 1", "spindle- and kinetochore-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220134 ; - skos:exactMatch HGNC_symbol:SKA1 ; + skos:exactMatch UMLS:C1540267, + HGNC:28109, + HGNC_symbol:SKA1 ; biolink:category biolink:Gene . OMIM:616674 a owl:Class ; rdfs:label "SKA2" ; IAO:0000142 PMID:17093495, PMID:26162986 ; - oboInOwl:hasDbXref UMLS:C1428662 ; oboInOwl:hasExactSynonym "SKA2", "family with sequence similarity 33, member a", "spindle- and kinetochore-associated complex, subunit 2", "spindle- and kinetochore-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348235 ; - skos:exactMatch HGNC_symbol:SKA2 ; + skos:exactMatch UMLS:C1428662, + HGNC:28006, + HGNC_symbol:SKA2 ; biolink:category biolink:Gene . OMIM:616675 a owl:Class ; @@ -346600,7 +361274,6 @@ OMIM:616675 a owl:Class ; IAO:0000142 PMID:15085952, PMID:16831889, PMID:16874310 ; - oboInOwl:hasDbXref UMLS:C1825744 ; oboInOwl:hasExactSynonym "KRT26", "cytokeratin 26", "k10d", @@ -346611,7 +361284,9 @@ OMIM:616675 a owl:Class ; "keratin 26, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353288 ; - skos:exactMatch HGNC_symbol:KRT26 ; + skos:exactMatch UMLS:C1825744, + HGNC:30840, + HGNC_symbol:KRT26 ; biolink:category biolink:Gene . OMIM:616676 a owl:Class ; @@ -346619,7 +361294,6 @@ OMIM:616676 a owl:Class ; IAO:0000142 PMID:15085952, PMID:16831889, PMID:16874310 ; - oboInOwl:hasDbXref UMLS:C1825745 ; oboInOwl:hasExactSynonym "KRT27", "cytokeratin 27", "irsa3.1", @@ -346631,7 +361305,9 @@ OMIM:616676 a owl:Class ; "krt25c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342574 ; - skos:exactMatch HGNC_symbol:KRT27 ; + skos:exactMatch UMLS:C1825745, + HGNC:30841, + HGNC_symbol:KRT27 ; biolink:category biolink:Gene . OMIM:616677 a owl:Class ; @@ -346639,7 +361315,6 @@ OMIM:616677 a owl:Class ; IAO:0000142 PMID:15085952, PMID:16831889, PMID:16874310 ; - oboInOwl:hasDbXref UMLS:C1825746 ; oboInOwl:hasExactSynonym "KRT28", "cytokeratin 28", "irs1a2", @@ -346650,14 +361325,15 @@ OMIM:616677 a owl:Class ; "krt25d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162605 ; - skos:exactMatch HGNC_symbol:KRT28 ; + skos:exactMatch UMLS:C1825746, + HGNC:30842, + HGNC_symbol:KRT28 ; biolink:category biolink:Gene . OMIM:616678 a owl:Class ; rdfs:label "KRT39" ; IAO:0000142 PMID:15085952, PMID:17301834 ; - oboInOwl:hasDbXref UMLS:C1825755 ; oboInOwl:hasExactSynonym "KRT39", "cytokeratin 39", "k39", @@ -346665,14 +361341,15 @@ OMIM:616678 a owl:Class ; "keratin 39, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390792 ; - skos:exactMatch HGNC_symbol:KRT39 ; + skos:exactMatch UMLS:C1825755, + HGNC:32971, + HGNC_symbol:KRT39 ; biolink:category biolink:Gene . OMIM:616679 a owl:Class ; rdfs:label "KRT40" ; IAO:0000142 PMID:15085952, PMID:17301834 ; - oboInOwl:hasDbXref UMLS:C1825756 ; oboInOwl:hasExactSynonym "KRT40", "cytokeratin 40", "k40", @@ -346680,18 +361357,20 @@ OMIM:616679 a owl:Class ; "keratin 40, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125115 ; - skos:exactMatch HGNC_symbol:KRT40 ; + skos:exactMatch UMLS:C1825756, + HGNC:26707, + HGNC_symbol:KRT40 ; biolink:category biolink:Gene . OMIM:616684 a owl:Class ; rdfs:label "charcot-marie-tooth disease, iia 4k" ; IAO:0000142 PMID:24027061 ; - oboInOwl:hasDbXref UMLS:C4225246 ; oboInOwl:hasExactSynonym "CMT4K", "charcot-marie-tooth disease, iia 4k", "charcot-marie-tooth disease, demyelinating, autosomal recessive, iia 4k", "charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, iia 4k" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4225246 ; biolink:category biolink:Disease . OMIM:616686 a owl:Class ; @@ -346702,7 +361381,6 @@ OMIM:616686 a owl:Class ; PMID:15475564, PMID:16765914, PMID:9847309 ; - oboInOwl:hasDbXref UMLS:C1424633 ; oboInOwl:hasExactSynonym "SYNCRIP", "glycine-, arginine-, and tyrosine-rich rna-binding protein", "heterogenous nuclear ribonucleoprotein q", @@ -346710,19 +361388,21 @@ OMIM:616686 a owl:Class ; "synaptotagmin-binding cytoplasmic rna-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10492 ; - skos:exactMatch HGNC_symbol:SYNCRIP ; + skos:exactMatch UMLS:C1424633, + HGNC:16918, + HGNC_symbol:SYNCRIP ; biolink:category biolink:Gene . OMIM:616687 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2y" ; IAO:0000142 PMID:25125609, PMID:25878907 ; - oboInOwl:hasDbXref UMLS:C4225244 ; oboInOwl:hasExactSynonym "CMT2Y", "charcot-marie-tooth disease, axonal, iia 2y", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2y", "charcot-marie-tooth neuropathy, iia 2y" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4225244 ; biolink:category biolink:Disease . OMIM:616688 a owl:Class ; @@ -346735,12 +361415,12 @@ OMIM:616688 a owl:Class ; PMID:28771897, PMID:32693025, PMID:7964809 ; - oboInOwl:hasDbXref UMLS:C4225243 ; oboInOwl:hasExactSynonym "CMT2Z", "charcot-marie-tooth disease, axonal, iia 2z", "charcot-marie-tooth disease, axonal, autosomal dominant, iia 2z", "charcot-marie-tooth neuropathy, iia 2z" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4225243 ; biolink:category biolink:Disease . OMIM:616690 a owl:Class ; @@ -346751,7 +361431,6 @@ OMIM:616690 a owl:Class ; PMID:9628581 ; RO:0002525 CHR:9606chr1p36.32 ; RO:0003303 OMIM:616781 ; - oboInOwl:hasDbXref UMLS:C1825667 ; oboInOwl:hasExactSynonym "CEP104", "centrosomal protein, 104-kd", "fap256, chlamydomonas, homolog of", @@ -346759,7 +361438,9 @@ OMIM:616690 a owl:Class ; "kiaa0562" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9731 ; - skos:exactMatch HGNC_symbol:CEP104 ; + skos:exactMatch UMLS:C1825667, + HGNC:24866, + HGNC_symbol:CEP104 ; biolink:category biolink:Gene . OMIM:616691 a owl:Class ; @@ -346768,14 +361449,15 @@ OMIM:616691 a owl:Class ; PMID:17672888, PMID:24373768, PMID:25787254 ; - oboInOwl:hasDbXref UMLS:C1539472 ; oboInOwl:hasExactSynonym "ESYT2", "extended synaptotagmin 2", "extended synaptotagmin-like protein 2", "family with sequence similarity 62, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57488 ; - skos:exactMatch HGNC_symbol:ESYT2 ; + skos:exactMatch UMLS:C1539472, + HGNC:22211, + HGNC_symbol:ESYT2 ; biolink:category biolink:Gene . OMIM:616692 a owl:Class ; @@ -346783,27 +361465,29 @@ OMIM:616692 a owl:Class ; IAO:0000142 PMID:17360437, PMID:17672888, PMID:25787254 ; - oboInOwl:hasDbXref UMLS:C1539473 ; oboInOwl:hasExactSynonym "ESYT3", "extended synaptotagmin 3", "extended synaptotagmin-like protein 3", "family with sequence similarity 62, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83850 ; - skos:exactMatch HGNC_symbol:ESYT3 ; + skos:exactMatch UMLS:C1539473, + HGNC:24295, + HGNC_symbol:ESYT3 ; biolink:category biolink:Gene . OMIM:616693 a owl:Class ; rdfs:label "ASIC5" ; IAO:0000142 PMID:10767424, PMID:24663811 ; - oboInOwl:hasDbXref UMLS:C3469621 ; oboInOwl:hasExactSynonym "ASIC5", "acid-sensing ion channel, subunit 5", "human intestine sodium channel" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51802 ; - skos:exactMatch HGNC_symbol:ASIC5 ; + skos:exactMatch UMLS:C3469621, + HGNC:17537, + HGNC_symbol:ASIC5 ; biolink:category biolink:Gene . OMIM:616694 a owl:Class ; @@ -346812,14 +361496,15 @@ OMIM:616694 a owl:Class ; PMID:20682791, PMID:24084648, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1428777 ; oboInOwl:hasExactSynonym "ECPAS", "ecm29 proteasome adaptor and scaffold protein", "ecm29, yeast, homolog of", "kiaa0368" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23392 ; - skos:exactMatch HGNC_symbol:ECPAS ; + skos:exactMatch UMLS:C1428777, + HGNC:29020, + HGNC_symbol:ECPAS ; biolink:category biolink:Gene . OMIM:616695 a owl:Class ; @@ -346827,7 +361512,6 @@ OMIM:616695 a owl:Class ; IAO:0000142 PMID:20180778, PMID:21262771, PMID:9757831 ; - oboInOwl:hasDbXref UMLS:C1823145 ; oboInOwl:hasExactSynonym "STYXL1", "dual-specificity phosphatase 24", "map kinase phosphatase-like styx domain protein", @@ -346835,103 +361519,112 @@ OMIM:616695 a owl:Class ; "styx-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51657 ; - skos:exactMatch HGNC_symbol:STYXL1 ; + skos:exactMatch UMLS:C1823145, + HGNC:18165, + HGNC_symbol:STYXL1 ; biolink:category biolink:Gene . OMIM:616696 a owl:Class ; rdfs:label "KIAA0040" ; IAO:0000142 PMID:21956439, PMID:7584026 ; - oboInOwl:hasDbXref UMLS:C1537441 ; oboInOwl:hasExactSynonym "KIAA0040", "kiaa0040 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9674 ; - skos:exactMatch HGNC_symbol:KIAA0040 ; + skos:exactMatch UMLS:C1537441, + HGNC:28950, + HGNC_symbol:KIAA0040 ; biolink:category biolink:Gene . OMIM:616697 a owl:Class ; rdfs:label "deafness, autosomal dominant 69" ; IAO:0000142 PMID:26522471 ; - oboInOwl:hasDbXref UMLS:C4225241 ; oboInOwl:hasExactSynonym "DFNA69", "deafness, autosomal dominant 69", "deafness, congenital, unilateral or asymmetric" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4225241 ; biolink:category biolink:Disease . OMIM:616698 a owl:Class ; rdfs:label "ZNF593" ; IAO:0000142 PMID:18287285, PMID:9115366 ; - oboInOwl:hasDbXref UMLS:C1429017 ; oboInOwl:hasExactSynonym "ZNF593", "zinc finger protein 593", "zinc finger protein t86" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51042 ; - skos:exactMatch HGNC_symbol:ZNF593 ; + skos:exactMatch UMLS:C1429017, + HGNC:30943, + HGNC_symbol:ZNF593 ; biolink:category biolink:Gene . OMIM:616699 a owl:Class ; rdfs:label "COMMD2" ; IAO:0000142 PMID:15799966, PMID:21778237 ; - oboInOwl:hasDbXref UMLS:C1428436 ; oboInOwl:hasExactSynonym "COMMD2", "comm domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51122 ; - skos:exactMatch HGNC_symbol:COMMD2 ; + skos:exactMatch UMLS:C1428436, + HGNC:24993, + HGNC_symbol:COMMD2 ; biolink:category biolink:Gene . OMIM:616700 a owl:Class ; rdfs:label "COMMD3" ; IAO:0000142 PMID:15799966, PMID:21778237 ; - oboInOwl:hasDbXref UMLS:C1428040 ; oboInOwl:hasExactSynonym "COMMD3", "comm domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23412 ; - skos:exactMatch HGNC_symbol:COMMD3 ; + skos:exactMatch UMLS:C1428040, + HGNC:23332, + HGNC_symbol:COMMD3 ; biolink:category biolink:Gene . OMIM:616701 a owl:Class ; rdfs:label "COMMD4" ; IAO:0000142 PMID:15799966, PMID:21778237 ; - oboInOwl:hasDbXref UMLS:C1428546 ; oboInOwl:hasExactSynonym "COMMD4", "comm domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54939 ; - skos:exactMatch HGNC_symbol:COMMD4 ; + skos:exactMatch UMLS:C1428546, + HGNC:26027, + HGNC_symbol:COMMD4 ; biolink:category biolink:Gene . OMIM:616702 a owl:Class ; rdfs:label "ZNF589" ; IAO:0000142 PMID:10029171, PMID:12097288 ; - oboInOwl:hasDbXref UMLS:C1424517 ; oboInOwl:hasExactSynonym "ZNF589", "stem cell zinc finger protein 1", "zinc finger protein 589" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51385 ; - skos:exactMatch HGNC_symbol:ZNF589 ; + skos:exactMatch UMLS:C1424517, + HGNC:16747, + HGNC_symbol:ZNF589 ; biolink:category biolink:Gene . OMIM:616703 a owl:Class ; rdfs:label "COMMD7" ; IAO:0000142 PMID:15799966, PMID:21778237 ; - oboInOwl:hasDbXref UMLS:C1424099 ; oboInOwl:hasExactSynonym "COMMD7", "comm domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149951 ; - skos:exactMatch HGNC_symbol:COMMD7 ; + skos:exactMatch UMLS:C1424099, + HGNC:16223, + HGNC_symbol:COMMD7 ; biolink:category biolink:Gene . OMIM:616704 a owl:Class ; @@ -346939,45 +361632,48 @@ OMIM:616704 a owl:Class ; IAO:0000142 PMID:15799966, PMID:21778237, PMID:23563313 ; - oboInOwl:hasDbXref UMLS:C1428942 ; oboInOwl:hasExactSynonym "COMMD10", "comm domain-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51397 ; - skos:exactMatch HGNC_symbol:COMMD10 ; + skos:exactMatch UMLS:C1428942, + HGNC:30201, + HGNC_symbol:COMMD10 ; biolink:category biolink:Gene . OMIM:616705 a owl:Class ; rdfs:label "deafness, autosomal recessive 97" ; IAO:0000142 PMID:25941349 ; - oboInOwl:hasDbXref UMLS:C4084709 ; oboInOwl:hasExactSynonym "DFNB97", "deafness, autosomal recessive 97" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4084709 ; biolink:category biolink:Disease . OMIM:616706 a owl:Class ; rdfs:label "PARP11" ; IAO:0000142 PMID:15273990 ; - oboInOwl:hasDbXref UMLS:C1538588 ; oboInOwl:hasExactSynonym "PARP11", "artd11", "poly(adp-ribose) polymerase family, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57097 ; - skos:exactMatch HGNC_symbol:PARP11 ; + skos:exactMatch UMLS:C1538588, + HGNC:1186, + HGNC_symbol:PARP11 ; biolink:category biolink:Gene . OMIM:616709 a owl:Class ; rdfs:label "A4GNT" ; IAO:0000142 PMID:10430883, PMID:22307328 ; - oboInOwl:hasDbXref UMLS:C1538890 ; oboInOwl:hasExactSynonym "A4GNT", "alpha-1,4-n-acetylglucosaminyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51146 ; - skos:exactMatch HGNC_symbol:A4GNT ; + skos:exactMatch UMLS:C1538890, + HGNC:17968, + HGNC_symbol:A4GNT ; biolink:category biolink:Gene . OMIM:616711 a owl:Class ; @@ -346985,14 +361681,15 @@ OMIM:616711 a owl:Class ; IAO:0000142 PMID:10559204, PMID:10924369, PMID:17396146 ; - oboInOwl:hasDbXref UMLS:C1539924 ; oboInOwl:hasExactSynonym "TAOK3", "dendritic cell-derived protein kinase", "jnk/sapk-inhibitory kinase", "tao kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51347 ; - skos:exactMatch HGNC_symbol:TAOK3 ; + skos:exactMatch UMLS:C1539924, + HGNC:18133, + HGNC_symbol:TAOK3 ; biolink:category biolink:Gene . OMIM:616712 a owl:Class ; @@ -347012,14 +361709,15 @@ OMIM:616712 a owl:Class ; PMID:31664034 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:607876 ; - oboInOwl:hasDbXref UMLS:C1425274, - UMLS:C1842852 ; oboInOwl:hasExactSynonym "STARD7", "gestational trophoblastic tumor protein 1", "start domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56910 ; - skos:exactMatch HGNC_symbol:STARD7 ; + skos:exactMatch UMLS:C1425274, + UMLS:C1842852, + HGNC:18063, + HGNC_symbol:STARD7 ; biolink:category biolink:Gene . OMIM:616713 a owl:Class ; @@ -347027,12 +361725,13 @@ OMIM:616713 a owl:Class ; IAO:0000142 PMID:10642506, PMID:10772957, PMID:11330064 ; - oboInOwl:hasDbXref UMLS:C1425088 ; oboInOwl:hasExactSynonym "PIPOX", "pipecolic acid oxidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51268 ; - skos:exactMatch HGNC_symbol:PIPOX ; + skos:exactMatch UMLS:C1425088, + HGNC:17804, + HGNC_symbol:PIPOX ; biolink:category biolink:Gene . OMIM:616714 a owl:Class ; @@ -347044,12 +361743,13 @@ OMIM:616714 a owl:Class ; PMID:20008325, PMID:20523354, PMID:9030690 ; - oboInOwl:hasDbXref UMLS:C1427984 ; oboInOwl:hasExactSynonym "HBP1", "hmg-box transcription factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26959 ; - skos:exactMatch HGNC_symbol:HBP1 ; + skos:exactMatch UMLS:C1427984, + HGNC:23200, + HGNC_symbol:HBP1 ; biolink:category biolink:Gene . OMIM:616715 a owl:Class ; @@ -347059,58 +361759,62 @@ OMIM:616715 a owl:Class ; PMID:31735293 ; RO:0002525 CHR:9606chr11q12.1 ; RO:0003303 OMIM:618730 ; - oboInOwl:hasDbXref UMLS:C2680492, - UMLS:C5231480 ; oboInOwl:hasExactSynonym "TMX2", "thioredoxin-related transmembrane protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51075 ; - skos:exactMatch HGNC_symbol:TMX2 ; + skos:exactMatch UMLS:C2680492, + UMLS:C5231480, + HGNC:30739, + HGNC_symbol:TMX2 ; biolink:category biolink:Gene . OMIM:616717 a owl:Class ; rdfs:label "TEX10" ; IAO:0000142 PMID:21326211, PMID:25936917 ; - oboInOwl:hasDbXref UMLS:C1428542 ; oboInOwl:hasExactSynonym "TEX10", "testis-expressed gene 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54881 ; - skos:exactMatch HGNC_symbol:TEX10 ; + skos:exactMatch UMLS:C1428542, + HGNC:25988, + HGNC_symbol:TEX10 ; biolink:category biolink:Gene . OMIM:616718 a owl:Class ; rdfs:label "NGRN" ; IAO:0000142 PMID:11118320 ; - oboInOwl:hasDbXref UMLS:C1826401 ; oboInOwl:hasExactSynonym "NGRN", "neugrin", "neurite outgrowth-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51335 ; - skos:exactMatch HGNC_symbol:NGRN ; + skos:exactMatch UMLS:C1826401, + HGNC:18077, + HGNC_symbol:NGRN ; biolink:category biolink:Gene . OMIM:616724 a owl:Class ; rdfs:label "tooth agenesis, selective, 7" ; IAO:0000142 PMID:26387593 ; - oboInOwl:hasDbXref UMLS:C4225231 ; oboInOwl:hasExactSynonym "STHAG7", "tooth agenesis, selective, 7" ; rdfs:subClassOf OMIMPS:106600 ; + skos:exactMatch UMLS:C4225231 ; biolink:category biolink:Disease . OMIM:616725 a owl:Class ; rdfs:label "DDX60L" ; IAO:0000142 PMID:26269178 ; - oboInOwl:hasDbXref UMLS:C2239343 ; oboInOwl:hasExactSynonym "DDX60L", "dead-box polypeptide 60-like", "dexd/h-box helicase 60-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91351 ; - skos:exactMatch HGNC_symbol:DDX60L ; + skos:exactMatch UMLS:C2239343, + HGNC:26429, + HGNC_symbol:DDX60L ; biolink:category biolink:Gene . OMIM:616727 a owl:Class ; @@ -347118,14 +361822,15 @@ OMIM:616727 a owl:Class ; IAO:0000142 PMID:12226751, PMID:15701849, PMID:25454821 ; - oboInOwl:hasDbXref UMLS:C1538636 ; oboInOwl:hasExactSynonym "PHF21B", "bhc80l", "phd finger protein 21b", "phf4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112885 ; - skos:exactMatch HGNC_symbol:PHF21B ; + skos:exactMatch UMLS:C1538636, + HGNC:25161, + HGNC_symbol:PHF21B ; biolink:category biolink:Gene . OMIM:616729 a owl:Class ; @@ -347134,12 +361839,13 @@ OMIM:616729 a owl:Class ; PMID:22016351, PMID:23405139, PMID:25783483 ; - oboInOwl:hasDbXref UMLS:C1423142 ; oboInOwl:hasExactSynonym "OR2W3", "olfactory receptor, family 2, subfamily w, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343171 ; - skos:exactMatch HGNC_symbol:OR2W3 ; + skos:exactMatch UMLS:C1423142, + HGNC:15021, + HGNC_symbol:OR2W3 ; biolink:category biolink:Gene . OMIM:616731 a owl:Class ; @@ -347150,13 +361856,14 @@ OMIM:616731 a owl:Class ; PMID:26309075, PMID:3277718, PMID:6339527 ; - oboInOwl:hasDbXref UMLS:C1417674 ; oboInOwl:hasExactSynonym "NEK5", "never 1n mitosis gene a-related kinase 5", "nima-related kinase 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:341676 ; - skos:exactMatch HGNC_symbol:NEK5 ; + skos:exactMatch UMLS:C1417674, + HGNC:7748, + HGNC_symbol:NEK5 ; biolink:category biolink:Gene . OMIM:616735 a owl:Class ; @@ -347165,22 +361872,23 @@ OMIM:616735 a owl:Class ; PMID:26358778 ; RO:0002525 CHR:9606chr3p25.1 ; RO:0003303 OMIM:616816 ; - oboInOwl:hasDbXref UMLS:C4225224 ; oboInOwl:hasExactSynonym "coiled-coil domain-containing protein 174: ccdc174", "hematopoietic stem/progenitor cell-expressed gene 212" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51244 ; - skos:exactMatch HGNC_symbol:CCDC174 ; + skos:exactMatch UMLS:C4225224, + HGNC:28033, + HGNC_symbol:CCDC174 ; biolink:category biolink:Gene . OMIM:616739 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 51" ; IAO:0000142 PMID:26206890 ; - oboInOwl:hasDbXref UMLS:C4225220 ; oboInOwl:hasExactSynonym "MRT51", "intellectual developmental disorder, autosomal recessive 51", "mental retardation, autosomal recessive 51" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4225220 ; biolink:category biolink:Disease . OMIM:616741 a owl:Class ; @@ -347194,77 +361902,83 @@ OMIM:616741 a owl:Class ; PMID:30710461 ; RO:0002525 CHR:9606chr6q16.2 ; RO:0003303 OMIM:619761 ; - oboInOwl:hasDbXref UMLS:C1422335 ; oboInOwl:hasExactSynonym "PRDM13", "pr domain zinc finger protein 13", "pr domain-containing protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59336 ; - skos:exactMatch HGNC_symbol:PRDM13 ; + skos:exactMatch UMLS:C1422335, + HGNC:13998, + HGNC_symbol:PRDM13 ; biolink:category biolink:Gene . OMIM:616742 a owl:Class ; rdfs:label "NOP58" ; IAO:0000142 PMID:10606270, PMID:10925205 ; - oboInOwl:hasDbXref UMLS:C2678522 ; oboInOwl:hasExactSynonym "NOP58", "nop5", "nop58 ribonucleoprotein", "nop58, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51602 ; - skos:exactMatch HGNC_symbol:NOP58 ; + skos:exactMatch UMLS:C2678522, + HGNC:29926, + HGNC_symbol:NOP58 ; biolink:category biolink:Gene . OMIM:616743 a owl:Class ; rdfs:label "RGL3" ; IAO:0000142 PMID:10869344 ; - oboInOwl:hasDbXref UMLS:C1428955 ; oboInOwl:hasExactSynonym "RGL3", "ral guanine nucleotide dissociation stimulator-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57139 ; - skos:exactMatch HGNC_symbol:RGL3 ; + skos:exactMatch UMLS:C1428955, + HGNC:30282, + HGNC_symbol:RGL3 ; biolink:category biolink:Gene . OMIM:616745 a owl:Class ; rdfs:label "BOD1" ; IAO:0000142 PMID:17938248 ; - oboInOwl:hasDbXref UMLS:C2681184 ; oboInOwl:hasExactSynonym "BOD1", "biorientation defective 1", "biorientation of chromosomes 1n cell division 1", "family with sequence similarity 44, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91272 ; - skos:exactMatch HGNC_symbol:BOD1 ; + skos:exactMatch UMLS:C2681184, + HGNC:25114, + HGNC_symbol:BOD1 ; biolink:category biolink:Gene . OMIM:616746 a owl:Class ; rdfs:label "BOD1L1" ; IAO:0000142 PMID:17938248, PMID:26166705 ; - oboInOwl:hasDbXref UMLS:C3469643 ; oboInOwl:hasExactSynonym "BOD1L1", "bod1-like protein 1", "bod1l", "family with sequence similarity 4, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:259282 ; - skos:exactMatch HGNC_symbol:BOD1L1 ; + skos:exactMatch UMLS:C3469643, + HGNC:31792, + HGNC_symbol:BOD1L1 ; biolink:category biolink:Gene . OMIM:616747 a owl:Class ; rdfs:label "CHPT1" ; IAO:0000142 PMID:10893425 ; - oboInOwl:hasDbXref UMLS:C1425131 ; oboInOwl:hasExactSynonym "CHPT1", "choline phosphotransferase 1", "cpt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56994 ; - skos:exactMatch HGNC_symbol:CHPT1 ; + skos:exactMatch UMLS:C1425131, + HGNC:17852, + HGNC_symbol:CHPT1 ; biolink:category biolink:Gene . OMIM:616748 a owl:Class ; @@ -347272,82 +361986,87 @@ OMIM:616748 a owl:Class ; IAO:0000142 PMID:16752921, PMID:17095758, PMID:17727821 ; - oboInOwl:hasDbXref UMLS:C1825054 ; oboInOwl:hasExactSynonym "ENTPD8", "ectonucleoside triphosphate diphosphohydrolase 8", "entpdase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:377841 ; - skos:exactMatch HGNC_symbol:ENTPD8 ; + skos:exactMatch UMLS:C1825054, + HGNC:24860, + HGNC_symbol:ENTPD8 ; biolink:category biolink:Gene . OMIM:616750 a owl:Class ; rdfs:label "ZDHHC16" ; IAO:0000142 PMID:12021275, PMID:17123647 ; - oboInOwl:hasDbXref UMLS:C1427091 ; oboInOwl:hasExactSynonym "ZDHHC16", "abl-philin 2", "zinc finger dhhc domain-containing protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84287 ; - skos:exactMatch HGNC_symbol:ZDHHC16 ; + skos:exactMatch UMLS:C1427091, + HGNC:20714, + HGNC_symbol:ZDHHC16 ; biolink:category biolink:Gene . OMIM:616751 a owl:Class ; rdfs:label "CEPT1" ; IAO:0000142 PMID:10191259, PMID:10893425 ; - oboInOwl:hasDbXref UMLS:C1538438 ; oboInOwl:hasExactSynonym "CEPT1", "choline/ethanolamine phosphotransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10390 ; - skos:exactMatch HGNC_symbol:CEPT1 ; + skos:exactMatch UMLS:C1538438, + HGNC:24289, + HGNC_symbol:CEPT1 ; biolink:category biolink:Gene . OMIM:616752 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:7829526 ; - oboInOwl:hasDbXref UMLS:C4225216 ; oboInOwl:hasExactSynonym "hmp19", "hypothalamus golgi apparatus-expressed protein, 19-kd", "neuron-specific gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51617 ; - skos:exactMatch HGNC_symbol:NSG2 ; + skos:exactMatch UMLS:C4225216, + HGNC:24955, + HGNC_symbol:NSG2 ; biolink:category biolink:Gene . OMIM:616753 a owl:Class ; rdfs:label "ENTPD7" ; IAO:0000142 PMID:11278936 ; - oboInOwl:hasDbXref UMLS:C1426381 ; oboInOwl:hasExactSynonym "ENTPD7", "ectonucleoside triphosphate diphosphohydrolase 7", "lysosomal apyrase-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57089 ; - skos:exactMatch HGNC_symbol:ENTPD7 ; + skos:exactMatch UMLS:C1426381, + HGNC:19745, + HGNC_symbol:ENTPD7 ; biolink:category biolink:Gene . OMIM:616755 a owl:Class ; rdfs:label "TRIM62" ; IAO:0000142 PMID:19536326, PMID:26488816 ; - oboInOwl:hasDbXref UMLS:C1540066 ; oboInOwl:hasExactSynonym "TRIM62", "ductal epithelium-associated ring protein, chromosome 1", "tripartite motif-containing protein 62" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55223 ; - skos:exactMatch HGNC_symbol:TRIM62 ; + skos:exactMatch UMLS:C1540066, + HGNC:25574, + HGNC_symbol:TRIM62 ; biolink:category biolink:Gene . OMIM:616757 a owl:Class ; rdfs:label "TMEM150A" ; IAO:0000142 PMID:10858565, PMID:25608530 ; - oboInOwl:hasDbXref UMLS:C1823415 ; oboInOwl:hasExactSynonym "TMEM150A", "tentonin 1", "tm6p1", @@ -347355,7 +362074,9 @@ OMIM:616757 a owl:Class ; "transmembrane protein 150a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129303 ; - skos:exactMatch HGNC_symbol:TMEM150A ; + skos:exactMatch UMLS:C1823415, + HGNC:24677, + HGNC_symbol:TMEM150A ; biolink:category biolink:Gene . OMIM:616758 a owl:Class ; @@ -347364,25 +362085,27 @@ OMIM:616758 a owl:Class ; PMID:27838789 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:617337 ; - oboInOwl:hasDbXref UMLS:C1823786 ; oboInOwl:hasExactSynonym "KDF1", "chromosome 1 open reading frame 172", "keratinocyte differentiation factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126695 ; - skos:exactMatch HGNC_symbol:KDF1 ; + skos:exactMatch UMLS:C1823786, + HGNC:26624, + HGNC_symbol:KDF1 ; biolink:category biolink:Gene . OMIM:616759 a owl:Class ; rdfs:label "NOSIP" ; IAO:0000142 PMID:11149895, PMID:25546391 ; - oboInOwl:hasDbXref UMLS:C1425195 ; oboInOwl:hasExactSynonym "NOSIP", "nitric oxide synthase-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51070 ; - skos:exactMatch HGNC_symbol:NOSIP ; + skos:exactMatch UMLS:C1425195, + HGNC:17946, + HGNC_symbol:NOSIP ; biolink:category biolink:Gene . OMIM:616761 a owl:Class ; @@ -347390,77 +362113,83 @@ OMIM:616761 a owl:Class ; IAO:0000142 PMID:20236627, PMID:24652652, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C3889187 ; oboInOwl:hasExactSynonym "SUSD6", "drug-activated gene overexpressed", "kiaa0247", "sushi domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9766 ; - skos:exactMatch HGNC_symbol:SUSD6 ; + skos:exactMatch UMLS:C3889187, + HGNC:19956, + HGNC_symbol:SUSD6 ; biolink:category biolink:Gene . OMIM:616762 a owl:Class ; rdfs:label "CCSAP" ; IAO:0000142 PMID:22493317, PMID:26562023 ; - oboInOwl:hasDbXref UMLS:C1823716 ; oboInOwl:hasExactSynonym "CCSAP", "centriole- and spindle-associated protein", "centriole-, cilia-, and spindle-associated protein", "chromosome 10 open reading frame 96" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126731 ; - skos:exactMatch HGNC_symbol:CCSAP ; + skos:exactMatch UMLS:C1823716, + HGNC:29578, + HGNC_symbol:CCSAP ; biolink:category biolink:Gene . OMIM:616764 a owl:Class ; rdfs:label "SLC46A3" ; IAO:0000142 PMID:23436907, PMID:26631267 ; - oboInOwl:hasDbXref UMLS:C2239935 ; oboInOwl:hasExactSynonym "SLC46A3", "solute carrier family 46, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283537 ; - skos:exactMatch HGNC_symbol:SLC46A3 ; + skos:exactMatch UMLS:C2239935, + HGNC:27501, + HGNC_symbol:SLC46A3 ; biolink:category biolink:Gene . OMIM:616765 a owl:Class ; rdfs:label "SAMD11" ; IAO:0000142 PMID:16539743, PMID:23978614 ; - oboInOwl:hasDbXref UMLS:C1539724 ; oboInOwl:hasExactSynonym "SAMD11", "major retinal sam domain protein", "sterile alpha motif domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148398 ; - skos:exactMatch HGNC_symbol:SAMD11 ; + skos:exactMatch UMLS:C1539724, + HGNC:28706, + HGNC_symbol:SAMD11 ; biolink:category biolink:Gene . OMIM:616766 a owl:Class ; rdfs:label "TMX4" ; IAO:0000142 PMID:20056998 ; - oboInOwl:hasDbXref UMLS:C1823560 ; oboInOwl:hasExactSynonym "TMX4", "thioredoxin-related transmembrane protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56255 ; - skos:exactMatch HGNC_symbol:TMX4 ; + skos:exactMatch UMLS:C1823560, + HGNC:25237, + HGNC_symbol:TMX4 ; biolink:category biolink:Gene . OMIM:616767 a owl:Class ; rdfs:label "CAPNS2" ; IAO:0000142 PMID:11853546, PMID:15590481 ; - oboInOwl:hasDbXref UMLS:C1539062 ; oboInOwl:hasExactSynonym "CAPNS2", "calcium-dependent protease small subunit 2", "calpain, small subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84290 ; - skos:exactMatch HGNC_symbol:CAPNS2 ; + skos:exactMatch UMLS:C1539062, + HGNC:16371, + HGNC_symbol:CAPNS2 ; biolink:category biolink:Gene . OMIM:616768 a owl:Class ; @@ -347469,13 +362198,14 @@ OMIM:616768 a owl:Class ; PMID:27273344 ; RO:0002525 CHR:9606chr10p15.3 ; RO:0003303 OMIM:616780 ; - oboInOwl:hasDbXref UMLS:C3470204 ; oboInOwl:hasExactSynonym "TUBB8", "tubulin, beta, class 8", "tubulin, beta-8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347688 ; - skos:exactMatch HGNC_symbol:TUBB8 ; + skos:exactMatch UMLS:C3470204, + HGNC:20773, + HGNC_symbol:TUBB8 ; biolink:category biolink:Gene . OMIM:616769 a owl:Class ; @@ -347485,12 +362215,13 @@ OMIM:616769 a owl:Class ; PMID:19596042, PMID:22674578, PMID:25008847 ; - oboInOwl:hasDbXref UMLS:C1538064 ; oboInOwl:hasExactSynonym "NIT2", "nitrilase family member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56954 ; - skos:exactMatch HGNC_symbol:NIT2 ; + skos:exactMatch UMLS:C1538064, + HGNC:29878, + HGNC_symbol:NIT2 ; biolink:category biolink:Gene . OMIM:616770 a owl:Class ; @@ -347499,13 +362230,14 @@ OMIM:616770 a owl:Class ; PMID:20947829, PMID:26680198, PMID:30007309 ; - oboInOwl:hasDbXref UMLS:C1537854 ; oboInOwl:hasExactSynonym "MIR218-1", "micro RNA 218-1", "mirna218-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407000 ; - skos:exactMatch HGNC_symbol:MIR218-1 ; + skos:exactMatch UMLS:C1537854, + HGNC:31595, + HGNC_symbol:MIR218-1 ; biolink:category biolink:Gene . OMIM:616771 a owl:Class ; @@ -347513,50 +362245,54 @@ OMIM:616771 a owl:Class ; IAO:0000142 PMID:19168627, PMID:20947829, PMID:26680198 ; - oboInOwl:hasDbXref UMLS:C1537855 ; oboInOwl:hasExactSynonym "MIR218-2", "micro RNA 218-2", "mirna218-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407001 ; - skos:exactMatch HGNC_symbol:MIR218-2 ; + skos:exactMatch UMLS:C1537855, + HGNC:31596, + HGNC_symbol:MIR218-2 ; biolink:category biolink:Gene . OMIM:616772 a owl:Class ; rdfs:label "MAN1C1" ; IAO:0000142 PMID:10915796 ; - oboInOwl:hasDbXref UMLS:C1425996 ; oboInOwl:hasExactSynonym "MAN1C1", "mannosidase, alpha, class 1c, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57134 ; - skos:exactMatch HGNC_symbol:MAN1C1 ; + skos:exactMatch UMLS:C1425996, + HGNC:19080, + HGNC_symbol:MAN1C1 ; biolink:category biolink:Gene . OMIM:616773 a owl:Class ; rdfs:label "MIGA1" ; IAO:0000142 PMID:26711011 ; - oboInOwl:hasDbXref UMLS:C1825140 ; oboInOwl:hasExactSynonym "MIGA1", "family with sequence similarity 73, member a", "miga, drosophila, homolog of, 1", "mitoguardin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374986 ; - skos:exactMatch HGNC_symbol:MIGA1 ; + skos:exactMatch UMLS:C1825140, + HGNC:24741, + HGNC_symbol:MIGA1 ; biolink:category biolink:Gene . OMIM:616774 a owl:Class ; rdfs:label "MIGA2" ; IAO:0000142 PMID:26711011 ; - oboInOwl:hasDbXref UMLS:C1825141 ; oboInOwl:hasExactSynonym "MIGA2", "family with sequence similarity 73, member B", "miga, drosophila, homolog of, 2", "mitoguardin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84895 ; - skos:exactMatch HGNC_symbol:MIGA2 ; + skos:exactMatch UMLS:C1825141, + HGNC:23621, + HGNC_symbol:MIGA2 ; biolink:category biolink:Gene . OMIM:616775 a owl:Class ; @@ -347565,26 +362301,28 @@ OMIM:616775 a owl:Class ; PMID:26179882, PMID:26440905, PMID:27102484 ; - oboInOwl:hasDbXref UMLS:C1538246 ; oboInOwl:hasExactSynonym "ZNF683", "homolog of blimp1 1n t cells", "zinc finger protein 683" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257101 ; - skos:exactMatch HGNC_symbol:ZNF683 ; + skos:exactMatch UMLS:C1538246, + HGNC:28495, + HGNC_symbol:ZNF683 ; biolink:category biolink:Gene . OMIM:616776 a owl:Class ; rdfs:label "DUSP15" ; IAO:0000142 PMID:11780052, PMID:15138252 ; - oboInOwl:hasDbXref UMLS:C1424112 ; oboInOwl:hasExactSynonym "DUSP15", "dual-specificity phosphatase 15", "vh1-related family, member y" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128853 ; - skos:exactMatch HGNC_symbol:DUSP15 ; + skos:exactMatch UMLS:C1424112, + HGNC:16236, + HGNC_symbol:DUSP15 ; biolink:category biolink:Gene . OMIM:616778 a owl:Class ; @@ -347594,7 +362332,6 @@ OMIM:616778 a owl:Class ; PMID:12138158, PMID:15138252, PMID:20018849 ; - oboInOwl:hasDbXref UMLS:C1423960 ; oboInOwl:hasExactSynonym "DUSP22", "dual-specificity phosphatase 22", "jnk pathway-associated phosphatase", @@ -347604,50 +362341,55 @@ OMIM:616778 a owl:Class ; "vhr-related mkpx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56940 ; - skos:exactMatch HGNC_symbol:DUSP22 ; + skos:exactMatch UMLS:C1423960, + HGNC:16077, + HGNC_symbol:DUSP22 ; biolink:category biolink:Gene . OMIM:616779 a owl:Class ; rdfs:label "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 2" ; IAO:0000142 PMID:26063658 ; - oboInOwl:hasDbXref UMLS:C4225211 ; oboInOwl:hasExactSynonym "CADASIL2", "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 2" ; rdfs:subClassOf OMIMPS:125310 ; + skos:exactMatch UMLS:C4225211 ; biolink:category biolink:Disease . OMIM:616782 a owl:Class ; rdfs:label "GCNT4" ; IAO:0000142 PMID:10753916 ; - oboInOwl:hasDbXref UMLS:C1825339 ; oboInOwl:hasExactSynonym "GCNT4", "beta-1,6-n-acetylglucosaminyltransferase 4, core 2", "glucosaminyl (n-acetyl) transferase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51301 ; - skos:exactMatch HGNC_symbol:GCNT4 ; + skos:exactMatch UMLS:C1825339, + HGNC:17973, + HGNC_symbol:GCNT4 ; biolink:category biolink:Gene . OMIM:616783 a owl:Class ; rdfs:label "UBXN10" ; IAO:0000142 PMID:26389662 ; - oboInOwl:hasDbXref UMLS:C1428576 ; oboInOwl:hasExactSynonym "UBXN10", "ubx domain protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127733 ; - skos:exactMatch HGNC_symbol:UBXN10 ; + skos:exactMatch UMLS:C1428576, + HGNC:26354, + HGNC_symbol:UBXN10 ; biolink:category biolink:Gene . OMIM:616785 a owl:Class ; rdfs:label "PHTF2" ; IAO:0000142 PMID:10729229 ; - oboInOwl:hasDbXref UMLS:C1421978 ; oboInOwl:hasExactSynonym "PHTF2", "putative homeodomain transcription factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57157 ; - skos:exactMatch HGNC_symbol:PHTF2 ; + skos:exactMatch UMLS:C1421978, + HGNC:13411, + HGNC_symbol:PHTF2 ; biolink:category biolink:Gene . OMIM:616786 a owl:Class ; @@ -347657,13 +362399,14 @@ OMIM:616786 a owl:Class ; PMID:28089251 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:617271 ; - oboInOwl:hasDbXref UMLS:C1825947 ; oboInOwl:hasExactSynonym "MAPKBP1", "jnk-binding protein 1", "mitogen-activated protein kinase-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23005 ; - skos:exactMatch HGNC_symbol:MAPKBP1 ; + skos:exactMatch UMLS:C1825947, + HGNC:29536, + HGNC_symbol:MAPKBP1 ; biolink:category biolink:Gene . OMIM:616787 a owl:Class ; @@ -347676,7 +362419,6 @@ OMIM:616787 a owl:Class ; PMID:23742838, PMID:26820066, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1539108 ; oboInOwl:hasExactSynonym "CLUAP1", "clusterin-associated protein 1", "dyf3, c. elegans, homolog of", @@ -347685,83 +362427,90 @@ OMIM:616787 a owl:Class ; "qilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23059 ; - skos:exactMatch HGNC_symbol:CLUAP1 ; + skos:exactMatch UMLS:C1539108, + HGNC:19009, + HGNC_symbol:CLUAP1 ; biolink:category biolink:Gene . OMIM:616790 a owl:Class ; rdfs:label "PPP4R4" ; IAO:0000142 PMID:18715871 ; - oboInOwl:hasDbXref UMLS:C2678578 ; oboInOwl:hasExactSynonym "PPP4R4", "kiaa1622", "pp4r4", "protein phosphatase 4, regulatory subunit 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57718 ; - skos:exactMatch HGNC_symbol:PPP4R4 ; + skos:exactMatch UMLS:C2678578, + HGNC:23788, + HGNC_symbol:PPP4R4 ; biolink:category biolink:Gene . OMIM:616791 a owl:Class ; rdfs:label "PGBD5" ; IAO:0000142 PMID:12955498 ; - oboInOwl:hasDbXref UMLS:C1426225 ; oboInOwl:hasExactSynonym "PGBD5", "piggybac domain-related protein 5", "piggybac transposable element-derived gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79605 ; - skos:exactMatch HGNC_symbol:PGBD5 ; + skos:exactMatch UMLS:C1426225, + HGNC:19405, + HGNC_symbol:PGBD5 ; biolink:category biolink:Gene . OMIM:616793 a owl:Class ; rdfs:label "PLA2G2F" ; IAO:0000142 PMID:11112443, PMID:11877435 ; - oboInOwl:hasDbXref UMLS:C1428924 ; oboInOwl:hasExactSynonym "PLA2G2F", "phospholipase a2, group 2f", "phospholipase a2, secreted, group 2f", "spla2 2f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64600 ; - skos:exactMatch HGNC_symbol:PLA2G2F ; + skos:exactMatch UMLS:C1428924, + HGNC:30040, + HGNC_symbol:PLA2G2F ; biolink:category biolink:Gene . OMIM:616795 a owl:Class ; rdfs:label "spinocerebellar ataxia 42" ; IAO:0000142 PMID:26456284, PMID:26715324 ; - oboInOwl:hasDbXref UMLS:C4225205 ; oboInOwl:hasExactSynonym "SCA42", "spinocerebellar ataxia 42" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C4225205 ; biolink:category biolink:Disease . OMIM:616796 a owl:Class ; rdfs:label "RDH14" ; IAO:0000142 PMID:12435598 ; - oboInOwl:hasDbXref UMLS:C1426579 ; oboInOwl:hasExactSynonym "RDH14", "pancreas protein 2", "retinol dehydrogenase 14", "short-chain dehydrogenase/reductase family 7c, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57665 ; - skos:exactMatch HGNC_symbol:RDH14 ; + skos:exactMatch UMLS:C1426579, + HGNC:19979, + HGNC_symbol:RDH14 ; biolink:category biolink:Gene . OMIM:616797 a owl:Class ; rdfs:label "EFR3B" ; IAO:0000142 PMID:10231032, PMID:25380825 ; - oboInOwl:hasDbXref UMLS:C1428801 ; oboInOwl:hasExactSynonym "EFR3B", "efr3 homolog B", "efr3, s. cerevisiae, homolog of, B", "kiaa0953" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22979 ; - skos:exactMatch HGNC_symbol:EFR3B ; + skos:exactMatch UMLS:C1428801, + HGNC:29155, + HGNC_symbol:EFR3B ; biolink:category biolink:Gene . OMIM:616798 a owl:Class ; @@ -347769,62 +362518,67 @@ OMIM:616798 a owl:Class ; IAO:0000142 PMID:12127974, PMID:19329283, PMID:26644408 ; - oboInOwl:hasDbXref UMLS:C1421765 ; oboInOwl:hasExactSynonym "ZFP28", "zinc finger protein 28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140612 ; - skos:exactMatch HGNC_symbol:ZFP28 ; + skos:exactMatch UMLS:C1421765, + HGNC:17801, + HGNC_symbol:ZFP28 ; biolink:category biolink:Gene . OMIM:616799 a owl:Class ; rdfs:label "SYCP2L" ; IAO:0000142 PMID:26362258 ; - oboInOwl:hasDbXref UMLS:C1427596 ; oboInOwl:hasExactSynonym "SYCP2L", "chromosome 6 open reading frame 177", "sycp2-like", "synaptonemal complex protein 2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221711 ; - skos:exactMatch HGNC_symbol:SYCP2L ; + skos:exactMatch UMLS:C1427596, + HGNC:21537, + HGNC_symbol:SYCP2L ; biolink:category biolink:Gene . OMIM:616800 a owl:Class ; rdfs:label "LOXL1AS1" ; IAO:0000142 PMID:26307087 ; - oboInOwl:hasDbXref UMLS:C4225204 ; oboInOwl:hasExactSynonym "LOXL1AS1", "lncrna loxl1as1", "long noncoding RNA loxl1as1", "loxl1 antisense RNA 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100287616 ; - skos:exactMatch HGNC_symbol:LOXL1-AS1 ; + skos:exactMatch UMLS:C4225204, + HGNC:44169, + HGNC_symbol:LOXL1-AS1 ; biolink:category biolink:Gene . OMIM:616802 a owl:Class ; rdfs:label "TARM1" ; IAO:0000142 PMID:26311901 ; - oboInOwl:hasDbXref UMLS:C2828747 ; oboInOwl:hasExactSynonym "TARM1", "t cell-interacting activating receptor on myeloid cells 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441864 ; - skos:exactMatch HGNC_symbol:TARM1 ; + skos:exactMatch UMLS:C2828747, + HGNC:37250, + HGNC_symbol:TARM1 ; biolink:category biolink:Gene . OMIM:616804 a owl:Class ; rdfs:label "VSTM1" ; IAO:0000142 PMID:20375307, PMID:23436183 ; - oboInOwl:hasDbXref UMLS:C1823650 ; oboInOwl:hasExactSynonym "VSTM1", "signal inhibitory receptor on leukocytes 1", "v-set and transmembrane domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284415 ; - skos:exactMatch HGNC_symbol:VSTM1 ; + skos:exactMatch UMLS:C1823650, + HGNC:29455, + HGNC_symbol:VSTM1 ; biolink:category biolink:Gene . OMIM:616805 a owl:Class ; @@ -347832,39 +362586,42 @@ OMIM:616805 a owl:Class ; IAO:0000142 PMID:12673574, PMID:14562369, PMID:21998677 ; - oboInOwl:hasDbXref UMLS:C1427964 ; oboInOwl:hasExactSynonym "MYCT1", "myc target 1n myeloid cells 1", "myc target from laryngeal cancer cells", "myc target protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80177 ; - skos:exactMatch HGNC_symbol:MYCT1 ; + skos:exactMatch UMLS:C1427964, + HGNC:23172, + HGNC_symbol:MYCT1 ; biolink:category biolink:Gene . OMIM:616807 a owl:Class ; rdfs:label "FBF1" ; IAO:0000142 PMID:10978533 ; - oboInOwl:hasDbXref UMLS:C1428399 ; oboInOwl:hasExactSynonym "FBF1", "albatross", "fas-binding factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85302 ; - skos:exactMatch HGNC_symbol:FBF1 ; + skos:exactMatch UMLS:C1428399, + HGNC:24674, + HGNC_symbol:FBF1 ; biolink:category biolink:Gene . OMIM:616808 a owl:Class ; rdfs:label "SHFL" ; IAO:0000142 PMID:26735137 ; - oboInOwl:hasDbXref UMLS:C2681309 ; oboInOwl:hasExactSynonym "SHFL", "chromosome 19 open reading frame 66", "repressor for yield of dengue virus", "shiftless antiviral inhibitor of ribosomal frameshifting" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55337 ; - skos:exactMatch HGNC_symbol:SHFL ; + skos:exactMatch UMLS:C2681309, + HGNC:25649, + HGNC_symbol:SHFL ; biolink:category biolink:Gene . OMIM:616810 a owl:Class ; @@ -347872,29 +362629,31 @@ OMIM:616810 a owl:Class ; IAO:0000142 PMID:10708514, PMID:10997877, PMID:20658536 ; - oboInOwl:hasDbXref UMLS:C2681610 ; oboInOwl:hasExactSynonym "IGDCC4", "immunoglobulin superfamily, dcc subclass, member 4", "kiaa1628", "neighbor of punc e11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57722 ; - skos:exactMatch HGNC_symbol:IGDCC4 ; + skos:exactMatch UMLS:C2681610, + HGNC:13770, + HGNC_symbol:IGDCC4 ; biolink:category biolink:Gene . OMIM:616813 a owl:Class ; rdfs:label "AGAP3" ; IAO:0000142 PMID:16461359, PMID:23904596 ; - oboInOwl:hasDbXref UMLS:C2681666, - UMLS:C4225198 ; oboInOwl:hasExactSynonym "AGAP3", "arf gtpase-activating protein with gtpase domain, ankyrin repeat, and pleckstrin homology domain 3", "centaurin, gamma-3", "cram-associated gtpase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116988 ; - skos:exactMatch HGNC_symbol:AGAP3 ; + skos:exactMatch UMLS:C2681666, + UMLS:C4225198, + HGNC:16923, + HGNC_symbol:AGAP3 ; biolink:category biolink:Gene . OMIM:616815 a owl:Class ; @@ -347903,7 +362662,6 @@ OMIM:616815 a owl:Class ; PMID:26833330 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:616829 ; - oboInOwl:hasDbXref UMLS:C1425293 ; oboInOwl:hasExactSynonym "TMEM199", "chromosome 17 open reading frame 32", "transmembrane protein 199", @@ -347911,19 +362669,22 @@ OMIM:616815 a owl:Class ; "vph2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147007 ; - skos:exactMatch HGNC_symbol:TMEM199 ; + skos:exactMatch UMLS:C1425293, + HGNC:18085, + HGNC_symbol:TMEM199 ; biolink:category biolink:Gene . OMIM:616820 a owl:Class ; rdfs:label "MTHFSD" ; IAO:0000142 PMID:26525917 ; - oboInOwl:hasDbXref UMLS:C1826324 ; oboInOwl:hasExactSynonym "MTHFSD", "methenyltetrahydrofolate synthetase domain-containing protein", "mthfs domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64779 ; - skos:exactMatch HGNC_symbol:MTHFSD ; + skos:exactMatch UMLS:C1826324, + HGNC:25778, + HGNC_symbol:MTHFSD ; biolink:category biolink:Gene . OMIM:616821 a owl:Class ; @@ -347934,14 +362695,15 @@ OMIM:616821 a owl:Class ; PMID:29069646 ; RO:0002525 CHR:9606chr13q14.3 ; RO:0003303 OMIM:618734 ; - oboInOwl:hasDbXref UMLS:C1425063, - UMLS:C5231484 ; oboInOwl:hasExactSynonym "THSD1", "thrombospondin iia 1 domain-containing protein 1", "transmembrane molecule with thrombospondin module" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55901 ; - skos:exactMatch HGNC_symbol:THSD1 ; + skos:exactMatch UMLS:C1425063, + UMLS:C5231484, + HGNC:17754, + HGNC_symbol:THSD1 ; biolink:category biolink:Gene . OMIM:616822 a owl:Class ; @@ -347949,14 +362711,15 @@ OMIM:616822 a owl:Class ; IAO:0000142 PMID:10470851, PMID:16301316, PMID:24285343 ; - oboInOwl:hasDbXref UMLS:C1826264 ; oboInOwl:hasExactSynonym "MON2", "kiaa1040", "mon2, regulator of endosome-to-golgi trafficking", "mon2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23041 ; - skos:exactMatch HGNC_symbol:MON2 ; + skos:exactMatch UMLS:C1826264, + HGNC:29177, + HGNC_symbol:MON2 ; biolink:category biolink:Gene . OMIM:616823 a owl:Class ; @@ -347964,7 +362727,6 @@ OMIM:616823 a owl:Class ; IAO:0000142 PMID:10470851, PMID:16301316, PMID:24863653 ; - oboInOwl:hasDbXref UMLS:C1824958 ; oboInOwl:hasExactSynonym "DOP1A", "dop1", "dop1 leucine zipper-like protein a", @@ -347972,33 +362734,37 @@ OMIM:616823 a owl:Class ; "kiaa1117" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23033 ; - skos:exactMatch HGNC_symbol:DOP1A ; + skos:exactMatch UMLS:C1824958, + HGNC:21194, + HGNC_symbol:DOP1A ; biolink:category biolink:Gene . OMIM:616824 a owl:Class ; rdfs:label "TRNP1" ; IAO:0000142 PMID:16792503, PMID:23622239 ; - oboInOwl:hasDbXref UMLS:C2681079 ; oboInOwl:hasExactSynonym "TRNP1", "tmf-regulated nuclear protein", "tmf1-regulated nuclear protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388610 ; - skos:exactMatch HGNC_symbol:TRNP1 ; + skos:exactMatch UMLS:C2681079, + HGNC:34348, + HGNC_symbol:TRNP1 ; biolink:category biolink:Gene . OMIM:616825 a owl:Class ; rdfs:label "NCOA5" ; IAO:0000142 PMID:11113208, PMID:24332041 ; - oboInOwl:hasDbXref UMLS:C1334869 ; oboInOwl:hasExactSynonym "NCOA5", "coactivator independent of af2", "nuclear receptor coactivator 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57727 ; - skos:exactMatch HGNC_symbol:NCOA5 ; + skos:exactMatch UMLS:C1334869, + HGNC:15909, + HGNC_symbol:NCOA5 ; biolink:category biolink:Gene . OMIM:616826 a owl:Class ; @@ -348006,13 +362772,14 @@ OMIM:616826 a owl:Class ; IAO:0000142 PMID:11777906, PMID:7568168, PMID:9446614 ; - oboInOwl:hasDbXref UMLS:C1428396 ; oboInOwl:hasExactSynonym "EPS15L1", "eps15-like protein 1", "eps15-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58513 ; - skos:exactMatch HGNC_symbol:EPS15L1 ; + skos:exactMatch UMLS:C1428396, + HGNC:24634, + HGNC_symbol:EPS15L1 ; biolink:category biolink:Gene . OMIM:616830 a owl:Class ; @@ -348021,76 +362788,81 @@ OMIM:616830 a owl:Class ; PMID:26805782 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:616878 ; - oboInOwl:hasDbXref UMLS:C1824506 ; oboInOwl:hasExactSynonym "TANGO2", "chromosome 22 open reading frame 25", "transport and golgi organization 2 homolog", "transport and golgi organization 2, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128989 ; - skos:exactMatch HGNC_symbol:TANGO2 ; + skos:exactMatch UMLS:C1824506, + HGNC:25439, + HGNC_symbol:TANGO2 ; biolink:category biolink:Gene . OMIM:616832 a owl:Class ; rdfs:label "MYOM3" ; IAO:0000142 PMID:18177667, PMID:26060189 ; - oboInOwl:hasDbXref UMLS:C1538031 ; oboInOwl:hasExactSynonym "MYOM3", "myomesin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127294 ; - skos:exactMatch HGNC_symbol:MYOM3 ; + skos:exactMatch UMLS:C1538031, + HGNC:26679, + HGNC_symbol:MYOM3 ; biolink:category biolink:Gene . OMIM:616836 a owl:Class ; rdfs:label "GPATCH2" ; IAO:0000142 PMID:19432882, PMID:25376275 ; - oboInOwl:hasDbXref UMLS:C1539595 ; oboInOwl:hasExactSynonym "GPATCH2", "g-patch domain-containing protein 2", "gpatc2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55105 ; - skos:exactMatch HGNC_symbol:GPATCH2 ; + skos:exactMatch UMLS:C1539595, + HGNC:25499, + HGNC_symbol:GPATCH2 ; biolink:category biolink:Gene . OMIM:616837 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:26595768, PMID:2825129 ; - oboInOwl:hasDbXref UMLS:C4225447 ; oboInOwl:hasExactSynonym "hpat5", "human pluripotency-associated transcript 5, noncoding", "lincrna hpat5", "long intergenic noncoding RNA hpat5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112590798 ; + skos:exactMatch UMLS:C4225447 ; biolink:category biolink:Gene . OMIM:616838 a owl:Class ; rdfs:label "CLEC17A" ; IAO:0000142 PMID:19419970 ; - oboInOwl:hasDbXref UMLS:C2681363 ; oboInOwl:hasExactSynonym "CLEC17A", "c-type lectin domain family 17, member a", "prolectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388512 ; - skos:exactMatch HGNC_symbol:CLEC17A ; + skos:exactMatch UMLS:C2681363, + HGNC:34520, + HGNC_symbol:CLEC17A ; biolink:category biolink:Gene . OMIM:616841 a owl:Class ; rdfs:label "ZNF468" ; IAO:0000142 PMID:12576331, PMID:16144304 ; - oboInOwl:hasDbXref UMLS:C1823979 ; oboInOwl:hasExactSynonym "ZNF468", "zinc finger protein 468" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90333 ; - skos:exactMatch HGNC_symbol:ZNF468 ; + skos:exactMatch UMLS:C1823979, + HGNC:33105, + HGNC_symbol:ZNF468 ; biolink:category biolink:Gene . OMIM:616842 a owl:Class ; @@ -348109,23 +362881,24 @@ OMIM:616842 a owl:Class ; PMID:9924305 ; RO:0002525 CHR:9606chr6q16.2 ; RO:0003303 OMIM:136550 ; - oboInOwl:hasDbXref UMLS:C4225185 ; oboInOwl:hasExactSynonym "DHS6S1", "dnase1 hypersensitivity, chromosome 6, site 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:111365204 ; + skos:exactMatch UMLS:C4225185 ; biolink:category biolink:Gene . OMIM:616844 a owl:Class ; rdfs:label "DNAJC17" ; IAO:0000142 PMID:20160132, PMID:26355662 ; - oboInOwl:hasDbXref UMLS:C1824948 ; oboInOwl:hasExactSynonym "DNAJC17", "dnaj/hsp40 homolog, subfamily c, member 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55192 ; - skos:exactMatch HGNC_symbol:DNAJC17 ; + skos:exactMatch UMLS:C1824948, + HGNC:25556, + HGNC_symbol:DNAJC17 ; biolink:category biolink:Gene . OMIM:616845 a owl:Class ; @@ -348133,12 +362906,13 @@ OMIM:616845 a owl:Class ; IAO:0000142 PMID:21095181, PMID:21706054, PMID:25745997 ; - oboInOwl:hasDbXref UMLS:C1539107 ; oboInOwl:hasExactSynonym "CLEC14A", "c-type lectin domain family 14, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161198 ; - skos:exactMatch HGNC_symbol:CLEC14A ; + skos:exactMatch UMLS:C1539107, + HGNC:19832, + HGNC_symbol:CLEC14A ; biolink:category biolink:Gene . OMIM:616846 a owl:Class ; @@ -348148,25 +362922,27 @@ OMIM:616846 a owl:Class ; PMID:7788527 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:616875 ; - oboInOwl:hasDbXref UMLS:C3541711 ; oboInOwl:hasExactSynonym "EMC1", "endoplasmic reticulum membrane protein complex, subunit 1", "er membrane protein complex, subunit 1", "kiaa0090" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23065 ; - skos:exactMatch HGNC_symbol:EMC1 ; + skos:exactMatch UMLS:C3541711, + HGNC:28957, + HGNC_symbol:EMC1 ; biolink:category biolink:Gene . OMIM:616847 a owl:Class ; rdfs:label "ZNF543" ; IAO:0000142 PMID:26095808 ; - oboInOwl:hasDbXref UMLS:C1428468 ; oboInOwl:hasExactSynonym "ZNF543", "zinc finger protein 543" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125919 ; - skos:exactMatch HGNC_symbol:ZNF543 ; + skos:exactMatch UMLS:C1428468, + HGNC:25281, + HGNC_symbol:ZNF543 ; biolink:category biolink:Gene . OMIM:616848 a owl:Class ; @@ -348176,22 +362952,23 @@ OMIM:616848 a owl:Class ; PMID:12482978, PMID:15117948, PMID:9813250 ; - oboInOwl:hasDbXref UMLS:C1825991 ; oboInOwl:hasExactSynonym "MIER1", "kiaa1610", "mesoderm induction-early response protein 1", "mier1 transcriptional regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57708 ; - skos:exactMatch HGNC_symbol:MIER1 ; + skos:exactMatch UMLS:C1825991, + HGNC:29657, + HGNC_symbol:MIER1 ; biolink:category biolink:Gene . OMIM:616849 a owl:Class ; rdfs:label "brachydactyly, iia a1, d" ; IAO:0000142 PMID:25758993 ; - oboInOwl:hasDbXref UMLS:C4225183 ; oboInOwl:hasExactSynonym "BDA1D", "brachydactyly, iia a1, d" ; + skos:exactMatch UMLS:C4225183 ; biolink:category biolink:Disease . OMIM:616850 a owl:Class ; @@ -348200,39 +362977,40 @@ OMIM:616850 a owl:Class ; PMID:16407229, PMID:22491477, PMID:23439680 ; - oboInOwl:hasDbXref UMLS:C2829145 ; oboInOwl:hasExactSynonym "WDR83", "mapk organizer 1", "mitogen-activated protein kinase organizer 1", "wd repeat-containing protein 83" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84292 ; - skos:exactMatch HGNC_symbol:WDR83 ; + skos:exactMatch UMLS:C2829145, + HGNC:32672, + HGNC_symbol:WDR83 ; biolink:category biolink:Gene . OMIM:616852 a owl:Class ; rdfs:label "myopathy, scapulohumeroperoneal" ; IAO:0000142 PMID:25938801, PMID:4952447 ; - oboInOwl:hasDbXref UMLS:C4225181 ; oboInOwl:hasExactSynonym "SHPM", "myopathy, scapulohumeroperoneal" ; + skos:exactMatch UMLS:C4225181 ; biolink:category biolink:Disease . OMIM:616853 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:26206078 ; - oboInOwl:hasDbXref UMLS:C4225668 ; oboInOwl:hasExactSynonym "family with sequence similarity 72, member c: fam72c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:554282 ; - skos:exactMatch HGNC_symbol:FAM72C ; + skos:exactMatch UMLS:C4225668, + HGNC:30602, + HGNC_symbol:FAM72C ; biolink:category biolink:Gene . OMIM:616855 a owl:Class ; rdfs:label "COX8C" ; IAO:0000142 PMID:12909344 ; - oboInOwl:hasDbXref UMLS:C1428373 ; oboInOwl:hasExactSynonym "COX8C", "cox viii-3", "cox8-3", @@ -348240,43 +363018,47 @@ OMIM:616855 a owl:Class ; "cytochrome c oxidase, subunit viiic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:341947 ; - skos:exactMatch HGNC_symbol:COX8C ; + skos:exactMatch UMLS:C1428373, + HGNC:24382, + HGNC_symbol:COX8C ; biolink:category biolink:Gene . OMIM:616856 a owl:Class ; rdfs:label "BRPF3" ; IAO:0000142 PMID:10574462, PMID:26677226 ; - oboInOwl:hasDbXref UMLS:C1422517 ; oboInOwl:hasExactSynonym "BRPF3", "bromodomain- and phd finger-containing protein 3", "kiaa1286" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27154 ; - skos:exactMatch HGNC_symbol:BRPF3 ; + skos:exactMatch UMLS:C1422517, + HGNC:14256, + HGNC_symbol:BRPF3 ; biolink:category biolink:Gene . OMIM:616857 a owl:Class ; rdfs:label "CLCA4" ; IAO:0000142 PMID:10437792, PMID:11071307 ; - oboInOwl:hasDbXref UMLS:C1413449 ; oboInOwl:hasExactSynonym "CLCA4", "calcium-activated chloride channel 2", "chloride channel accessory 4", "chloride channel, calcium-activated, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22802 ; - skos:exactMatch HGNC_symbol:CLCA4 ; + skos:exactMatch UMLS:C1413449, + HGNC:2018, + HGNC_symbol:CLCA4 ; biolink:category biolink:Gene . OMIM:616858 a owl:Class ; rdfs:label "cowden syndrome 7" ; IAO:0000142 PMID:26522472 ; - oboInOwl:hasDbXref UMLS:C4225179 ; oboInOwl:hasExactSynonym "CWS7", "cowden syndrome 7" ; rdfs:subClassOf OMIMPS:158350 ; + skos:exactMatch UMLS:C4225179 ; biolink:category biolink:Disease . OMIM:616860 a owl:Class ; @@ -348286,18 +363068,17 @@ OMIM:616860 a owl:Class ; PMID:20364084, PMID:25342667, PMID:30660387 ; - oboInOwl:hasDbXref UMLS:C4225155, - ORPHA:255132 ; oboInOwl:hasExactSynonym "SIDBA3", "anemia, sideroblastic, 3, pyridoxine-refractory" ; rdfs:subClassOf OMIMPS:300751 ; + skos:exactMatch UMLS:C4225155, + ORPHA:255132 ; biolink:category biolink:Disease . OMIM:616861 a owl:Class ; rdfs:label "SLC12A9" ; IAO:0000142 PMID:10871601, PMID:23325410 ; - oboInOwl:hasDbXref UMLS:C1424965 ; oboInOwl:hasExactSynonym "SLC12A9", "cation-chloride cotransporter 6", "cation-chloride cotransporter-interacting protein 1", @@ -348305,33 +363086,37 @@ OMIM:616861 a owl:Class ; "solute carrier family 12 (potassium/chloride transporter), member 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56996 ; - skos:exactMatch HGNC_symbol:SLC12A9 ; + skos:exactMatch UMLS:C1424965, + HGNC:17435, + HGNC_symbol:SLC12A9 ; biolink:category biolink:Gene . OMIM:616862 a owl:Class ; rdfs:label "RPL34" ; IAO:0000142 PMID:26323242, PMID:26526135 ; - oboInOwl:hasDbXref UMLS:C1419663 ; oboInOwl:hasExactSynonym "60s ribosomal protein 34", "RPL34", "ribosomal protein l34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6164 ; - skos:exactMatch HGNC_symbol:RPL34 ; + skos:exactMatch UMLS:C1419663, + HGNC:10340, + HGNC_symbol:RPL34 ; biolink:category biolink:Gene . OMIM:616864 a owl:Class ; rdfs:label "HEXD" ; IAO:0000142 PMID:19040401, PMID:23099419 ; - oboInOwl:hasDbXref UMLS:C1825462 ; oboInOwl:hasExactSynonym "HEXD", "hexosaminidase (glycosyl hydrolase family 20, catalytic domain)-containing protein", "hexosaminidase d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284004 ; - skos:exactMatch HGNC_symbol:HEXD ; + skos:exactMatch UMLS:C1825462, + HGNC:26307, + HGNC_symbol:HEXD ; biolink:category biolink:Gene . OMIM:616865 a owl:Class ; @@ -348339,7 +363124,6 @@ OMIM:616865 a owl:Class ; IAO:0000142 PMID:11287430, PMID:11431479, PMID:11463842 ; - oboInOwl:hasDbXref UMLS:C1423109 ; oboInOwl:hasExactSynonym "PAPOLG", "neo-pap", "pap-gamma", @@ -348348,15 +363132,15 @@ OMIM:616865 a owl:Class ; "srp rna-adenylating enzyme" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64895 ; - skos:exactMatch HGNC_symbol:PAPOLG ; + skos:exactMatch UMLS:C1423109, + HGNC:14982, + HGNC_symbol:PAPOLG ; biolink:category biolink:Gene . OMIM:616869 a owl:Class ; rdfs:label "CNEP1R1" ; IAO:0000142 PMID:22134922, PMID:25548215 ; - oboInOwl:hasDbXref UMLS:C3469912, - UMLS:C4225175 ; oboInOwl:hasExactSynonym "CNEP1R1", "c-terminal domain nuclear envelope phosphatase 1 regulatory subunit 1", "chromosome 16 open reading frame 69", @@ -348367,30 +363151,35 @@ OMIM:616869 a owl:Class ; "transmembrane protein 188" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255919 ; - skos:exactMatch HGNC_symbol:CNEP1R1 ; + skos:exactMatch UMLS:C3469912, + UMLS:C4225175, + HGNC:26759, + HGNC_symbol:CNEP1R1 ; biolink:category biolink:Gene . OMIM:616870 a owl:Class ; rdfs:label "TMEM14A" ; IAO:0000142 PMID:21723035 ; - oboInOwl:hasDbXref UMLS:C1427297 ; oboInOwl:hasExactSynonym "TMEM14A", "transmembrane protein 14a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28978 ; - skos:exactMatch HGNC_symbol:TMEM14A ; + skos:exactMatch UMLS:C1427297, + HGNC:21076, + HGNC_symbol:TMEM14A ; biolink:category biolink:Gene . OMIM:616872 a owl:Class ; rdfs:label "TM9SF3" ; IAO:0000142 PMID:11595169 ; - oboInOwl:hasDbXref UMLS:C1823288 ; oboInOwl:hasExactSynonym "TM9SF3", "sm11044-binding protein", "transmembrane 9 superfamily, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56889 ; - skos:exactMatch HGNC_symbol:TM9SF3 ; + skos:exactMatch UMLS:C1823288, + HGNC:21529, + HGNC_symbol:TM9SF3 ; biolink:category biolink:Gene . OMIM:616874 a owl:Class ; @@ -348399,19 +363188,19 @@ OMIM:616874 a owl:Class ; PMID:22418439, PMID:23508950, PMID:23940116 ; - oboInOwl:hasDbXref UMLS:C1823290 ; oboInOwl:hasExactSynonym "TMBIM4", "golgi-associated antiapoptotic protein", "transmembrane bax inhibitor motif-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51643 ; - skos:exactMatch HGNC_symbol:TMBIM4 ; + skos:exactMatch UMLS:C1823290, + HGNC:24257, + HGNC_symbol:TMBIM4 ; biolink:category biolink:Gene . OMIM:616876 a owl:Class ; rdfs:label "TMED5" ; IAO:0000142 PMID:19948005 ; - oboInOwl:hasDbXref UMLS:C1539986 ; oboInOwl:hasExactSynonym "TMED5", "p24, gamma-2", "p28", @@ -348419,45 +363208,50 @@ OMIM:616876 a owl:Class ; "transmembrane p24 trafficking protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50999 ; - skos:exactMatch HGNC_symbol:TMED5 ; + skos:exactMatch UMLS:C1539986, + HGNC:24251, + HGNC_symbol:TMED5 ; biolink:category biolink:Gene . OMIM:616877 a owl:Class ; rdfs:label "TMEM9" ; IAO:0000142 PMID:12359240, PMID:30374053 ; - oboInOwl:hasDbXref UMLS:C1425801 ; oboInOwl:hasExactSynonym "TMEM9", "dermal papilla-derived protein 4", "tmem9a", "transmembrane protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:252839 ; - skos:exactMatch HGNC_symbol:TMEM9 ; + skos:exactMatch UMLS:C1425801, + HGNC:18823, + HGNC_symbol:TMEM9 ; biolink:category biolink:Gene . OMIM:616879 a owl:Class ; rdfs:label "TBC1D22A" ; IAO:0000142 PMID:23572552 ; - oboInOwl:hasDbXref UMLS:C1539938 ; oboInOwl:hasExactSynonym "TBC1D22A", "chromosome 22 open reading frame 4", "tbc1 domain family, member 22a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25771 ; - skos:exactMatch HGNC_symbol:TBC1D22A ; + skos:exactMatch UMLS:C1539938, + HGNC:1309, + HGNC_symbol:TBC1D22A ; biolink:category biolink:Gene . OMIM:616880 a owl:Class ; rdfs:label "TBC1D22B" ; IAO:0000142 PMID:23572552 ; - oboInOwl:hasDbXref UMLS:C1539939 ; oboInOwl:hasExactSynonym "TBC1D22B", "chromosome 6 open reading frame 197", "tbc1 domain family, member 22b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55633 ; - skos:exactMatch HGNC_symbol:TBC1D22B ; + skos:exactMatch UMLS:C1539939, + HGNC:21602, + HGNC_symbol:TBC1D22B ; biolink:category biolink:Gene . OMIM:616883 a owl:Class ; @@ -348466,7 +363260,6 @@ OMIM:616883 a owl:Class ; PMID:12918107, PMID:19664239, PMID:7844142 ; - oboInOwl:hasDbXref UMLS:C1428344 ; oboInOwl:hasExactSynonym "SRPRB", "apmcf1", "signal recognition particle receptor, beta subunit", @@ -348474,7 +363267,9 @@ OMIM:616883 a owl:Class ; "srp receptor, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58477 ; - skos:exactMatch HGNC_symbol:SRPRB ; + skos:exactMatch UMLS:C1428344, + HGNC:24085, + HGNC_symbol:SRPRB ; biolink:category biolink:Gene . OMIM:616884 a owl:Class ; @@ -348482,13 +363277,14 @@ OMIM:616884 a owl:Class ; IAO:0000142 PMID:10718198, PMID:20714347, PMID:21040849 ; - oboInOwl:hasDbXref UMLS:C3470221 ; oboInOwl:hasExactSynonym "UNC79", "unc79 homolog, nalcn channel complex subunit", "unc79, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57578 ; - skos:exactMatch HGNC_symbol:UNC79 ; + skos:exactMatch UMLS:C3470221, + HGNC:19966, + HGNC_symbol:UNC79 ; biolink:category biolink:Gene . OMIM:616885 a owl:Class ; @@ -348496,14 +363292,15 @@ OMIM:616885 a owl:Class ; IAO:0000142 PMID:12801884, PMID:21078874, PMID:9712905 ; - oboInOwl:hasDbXref UMLS:C1424780 ; oboInOwl:hasExactSynonym "CARHSP1", "calcium-regulated heat-stable protein 1", "calcium-regulated heat-stable protein, 24-kd", "cold-shock domain-containing protein c1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23589 ; - skos:exactMatch HGNC_symbol:CARHSP1 ; + skos:exactMatch UMLS:C1424780, + HGNC:17150, + HGNC_symbol:CARHSP1 ; biolink:category biolink:Gene . OMIM:616886 a owl:Class ; @@ -348511,13 +363308,14 @@ OMIM:616886 a owl:Class ; IAO:0000142 PMID:12493763, PMID:26828271, PMID:8724849 ; - oboInOwl:hasDbXref UMLS:C3542736 ; oboInOwl:hasExactSynonym "GSE1", "gse1 coiled-coil protein", "kiaa0182" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23199 ; - skos:exactMatch HGNC_symbol:GSE1 ; + skos:exactMatch UMLS:C3542736, + HGNC:28979, + HGNC_symbol:GSE1 ; biolink:category biolink:Gene . OMIM:616888 a owl:Class ; @@ -348526,14 +363324,15 @@ OMIM:616888 a owl:Class ; PMID:12918109, PMID:19755717, PMID:25378401 ; - oboInOwl:hasDbXref UMLS:C1538354 ; oboInOwl:hasExactSynonym "TMEM8B", "nag5", "nasopharyngeal cancer-related gene 6", "transmembrane protein 8b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51754 ; - skos:exactMatch HGNC_symbol:TMEM8B ; + skos:exactMatch UMLS:C1538354, + HGNC:21427, + HGNC_symbol:TMEM8B ; biolink:category biolink:Gene . OMIM:616889 a owl:Class ; @@ -348543,47 +363342,50 @@ OMIM:616889 a owl:Class ; PMID:24554434, PMID:25704143, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1824712 ; oboInOwl:hasExactSynonym "CEP68", "centrosomal protein, 68-kd", "kiaa0582" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23177 ; - skos:exactMatch HGNC_symbol:CEP68 ; + skos:exactMatch UMLS:C1824712, + HGNC:29076, + HGNC_symbol:CEP68 ; biolink:category biolink:Gene . OMIM:616891 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:26816378 ; - oboInOwl:hasDbXref UMLS:C4225446 ; oboInOwl:hasExactSynonym "dwarf open reading frame", "dworf", "loc100507537" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507537 ; - skos:exactMatch HGNC_symbol:STRIT1 ; + skos:exactMatch UMLS:C4225446, + HGNC:52297, + HGNC_symbol:STRIT1 ; biolink:category biolink:Gene . OMIM:616895 a owl:Class ; rdfs:label "SAMMSON" ; IAO:0000142 PMID:27008969 ; - oboInOwl:hasDbXref UMLS:C3815310 ; oboInOwl:hasExactSynonym "SAMMSON", "lincrna 1212", "long intergenic noncoding RNA 1212", "survival-associated mitochondrial melanoma-specific oncogenic noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101927152 ; - skos:exactMatch HGNC_symbol:SAMMSON ; + skos:exactMatch UMLS:C3815310, + HGNC:49644, + HGNC_symbol:SAMMSON ; biolink:category biolink:Gene . OMIM:616896 a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" ; IAO:0000142 PMID:26561570 ; - oboInOwl:hasDbXref UMLS:C4225163 ; oboInOwl:hasExactSynonym "MTDPS14", "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C4225163 ; biolink:category biolink:Disease . OMIM:616898 a owl:Class ; @@ -348592,8 +363394,8 @@ OMIM:616898 a owl:Class ; PMID:24678003, PMID:26561393 ; RO:0002525 CHR:9606chr15q14 ; - oboInOwl:hasDbXref UMLS:C4225666 ; oboInOwl:hasExactSynonym "chromosome 15q14 deletion syndrome" ; + skos:exactMatch UMLS:C4225666 ; biolink:category biolink:Disease . OMIM:616899 a owl:Class ; @@ -348605,76 +363407,82 @@ OMIM:616899 a owl:Class ; PMID:27040692 ; RO:0002525 CHR:9606chr4q24 ; RO:0003303 OMIM:616900 ; - oboInOwl:hasDbXref UMLS:C2828748 ; oboInOwl:hasExactSynonym "TBCK", "tbc1 domain-containing kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93627 ; - skos:exactMatch HGNC_symbol:TBCK ; + skos:exactMatch UMLS:C2828748, + HGNC:28261, + HGNC_symbol:TBCK ; biolink:category biolink:Gene . OMIM:616904 a owl:Class ; rdfs:label "DOCK5" ; IAO:0000142 PMID:19004829 ; - oboInOwl:hasDbXref UMLS:C1428090 ; oboInOwl:hasExactSynonym "DOCK5", "dedicator of cytokinesis 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80005 ; - skos:exactMatch HGNC_symbol:DOCK5 ; + skos:exactMatch UMLS:C1428090, + HGNC:23476, + HGNC_symbol:DOCK5 ; biolink:category biolink:Gene . OMIM:616905 a owl:Class ; rdfs:label "MRFAP1" ; IAO:0000142 PMID:11500496, PMID:15367658 ; - oboInOwl:hasDbXref UMLS:C1537937 ; oboInOwl:hasExactSynonym "MRFAP1", "morf4 family-associated protein 1", "pgr1", "protein associated with mrg, 14-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93621 ; - skos:exactMatch HGNC_symbol:MRFAP1 ; + skos:exactMatch UMLS:C1537937, + HGNC:24549, + HGNC_symbol:MRFAP1 ; biolink:category biolink:Gene . OMIM:616906 a owl:Class ; rdfs:label "CASC1" ; IAO:0000142 PMID:14583591 ; - oboInOwl:hasDbXref UMLS:C1428880 ; oboInOwl:hasExactSynonym "CASC1", "cancer susceptibility candidate 1", "lung adenoma susceptibility gene 1", "protein phosphatase 1, regulatory subunit 54" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55259 ; - skos:exactMatch HGNC_symbol:DNAI7 ; + skos:exactMatch UMLS:C1428880, + HGNC:29599, + HGNC_symbol:DNAI7 ; biolink:category biolink:Gene . OMIM:616908 a owl:Class ; rdfs:label "PTCHD4" ; IAO:0000142 PMID:25296753 ; - oboInOwl:hasDbXref UMLS:C3471468 ; oboInOwl:hasExactSynonym "PTCHD4", "chromosome 6 open reading frame 138", "patched domain-containing protein 4", "patched protein, p53-regulated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442213 ; - skos:exactMatch HGNC_symbol:PTCHD4 ; + skos:exactMatch UMLS:C3471468, + HGNC:21345, + HGNC_symbol:PTCHD4 ; biolink:category biolink:Gene . OMIM:616909 a owl:Class ; rdfs:label "CCDC68" ; IAO:0000142 PMID:11149944, PMID:25381825 ; - oboInOwl:hasDbXref UMLS:C1824592 ; oboInOwl:hasExactSynonym "CCDC68", "coiled-coil domain-containing protein 68", "se57-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80323 ; - skos:exactMatch HGNC_symbol:CCDC68 ; + skos:exactMatch UMLS:C1824592, + HGNC:24350, + HGNC_symbol:CCDC68 ; biolink:category biolink:Gene . OMIM:616912 a owl:Class ; @@ -348684,12 +363492,13 @@ OMIM:616912 a owl:Class ; PMID:10993894, PMID:19000756, PMID:20639531 ; - oboInOwl:hasDbXref UMLS:C1426797 ; oboInOwl:hasExactSynonym "EVL", "enah/vasp-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51466 ; - skos:exactMatch HGNC_symbol:EVL ; + skos:exactMatch UMLS:C1426797, + HGNC:20234, + HGNC_symbol:EVL ; biolink:category biolink:Gene . OMIM:616914 a owl:Class ; @@ -348703,25 +363512,26 @@ OMIM:616914 a owl:Class ; PMID:26860060, PMID:27087445, PMID:29106398 ; - oboInOwl:hasDbXref UMLS:C4310796 ; oboInOwl:hasExactSynonym "MFLS", "marfan lipodystrophy syndrome", "marfan-progeroid-lipodystrophy syndrome", "marfanoid-progeroid syndrome", "marfanoid-progeroid-lipodystrophy syndrome" ; + skos:exactMatch UMLS:C4310796 ; biolink:category biolink:Disease . OMIM:616915 a owl:Class ; rdfs:label "ZEB1AS1" ; IAO:0000142 PMID:26073087 ; - oboInOwl:hasDbXref UMLS:C4310795 ; oboInOwl:hasExactSynonym "ZEB1AS1", "lncrna zeb1as1", "long noncoding RNA zeb1as1", "zeb1 antisense RNA 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220930 ; - skos:exactMatch HGNC_symbol:ZEB1-AS1 ; + skos:exactMatch UMLS:C4310795, + HGNC:42354, + HGNC_symbol:ZEB1-AS1 ; biolink:category biolink:Gene . OMIM:616916 a owl:Class ; @@ -348729,29 +363539,42 @@ OMIM:616916 a owl:Class ; IAO:0000142 PMID:16571680, PMID:21147065, PMID:25281535 ; - oboInOwl:hasDbXref UMLS:C2239938 ; oboInOwl:hasExactSynonym "SMAP2", "small adp-ribosylation factor gtpase-activating protein 2", "small arfgap 2", "smap1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64744 ; - skos:exactMatch HGNC_symbol:SMAP2 ; + skos:exactMatch UMLS:C2239938, + HGNC:25082, + HGNC_symbol:SMAP2 ; biolink:category biolink:Gene . +OMIM:616917 a owl:Class ; + rdfs:label "neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy" ; + IAO:0000142 PMID:26996948 ; + oboInOwl:hasExactSynonym "NEDHSCA", + "glycosylphosphatidylinositol biosynthesis defect 13", + "intellectual developmental disorder, autosomal recessive 53, formerly", + "mental retardation, autosomal recessive 53, formerly", + "neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy" ; + skos:exactMatch UMLS:C4310794 ; + biolink:category biolink:Disease . + OMIM:616918 a owl:Class ; rdfs:label "PIGG" ; IAO:0000142 PMID:15632136, PMID:26996948 ; RO:0002525 CHR:9606chr4p16.3 ; - RO:0003303 OMIM:616917 ; - oboInOwl:hasDbXref UMLS:C1826585 ; + RO:0003303 OMIM:619812 ; oboInOwl:hasExactSynonym "PIGG", "gpi7, s. cerevisiae, homolog of", "phosphatidylinositol glycan anchor biosynthesis class g protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54872 ; - skos:exactMatch HGNC_symbol:PIGG ; + skos:exactMatch UMLS:C1826585, + HGNC:25985, + HGNC_symbol:PIGG ; biolink:category biolink:Gene . OMIM:616919 a owl:Class ; @@ -348759,40 +363582,41 @@ OMIM:616919 a owl:Class ; IAO:0000142 PMID:10231032, PMID:18566450, PMID:23318951 ; - oboInOwl:hasDbXref UMLS:C1428803 ; oboInOwl:hasExactSynonym "FRMPD1", "ferm and pdz domains-containing protein 1", "ferm domain-containing protein 2", "kiaa0967" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22844 ; - skos:exactMatch HGNC_symbol:FRMPD1 ; + skos:exactMatch UMLS:C1428803, + HGNC:29159, + HGNC_symbol:FRMPD1 ; biolink:category biolink:Gene . OMIM:616921 a owl:Class ; rdfs:label "dyskinesia, limb and orofacial, infantile-onset" ; IAO:0000142 PMID:27058446 ; - oboInOwl:hasDbXref UMLS:C4310792 ; oboInOwl:hasExactSynonym "IOLOD", "dyskinesia, limb and orofacial, infantile-onset" ; + skos:exactMatch UMLS:C4310792 ; biolink:category biolink:Disease . OMIM:616923 a owl:Class ; rdfs:label "RNF207" ; IAO:0000142 PMID:25281747 ; - oboInOwl:hasDbXref UMLS:C1826842 ; oboInOwl:hasExactSynonym "RNF207", "chromosome 1 open reading frame 188", "ring finger protein 207" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388591 ; - skos:exactMatch HGNC_symbol:RNF207 ; + skos:exactMatch UMLS:C1826842, + HGNC:32947, + HGNC_symbol:RNF207 ; biolink:category biolink:Gene . OMIM:616925 a owl:Class ; rdfs:label "DHRS4AS1" ; IAO:0000142 PMID:22891334 ; - oboInOwl:hasDbXref UMLS:C3470077 ; oboInOwl:hasExactSynonym "DHRS4AS1", "as1dhrs4", "chromosome 14 open reading frame 167", @@ -348801,27 +363625,29 @@ OMIM:616925 a owl:Class ; "long noncoding RNA dhrs4as1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55449 ; - skos:exactMatch HGNC_symbol:DHRS4-AS1 ; + skos:exactMatch UMLS:C3470077, + HGNC:23175, + HGNC_symbol:DHRS4-AS1 ; biolink:category biolink:Gene . OMIM:616926 a owl:Class ; rdfs:label "FXYD4" ; IAO:0000142 PMID:10950925, PMID:11483503 ; - oboInOwl:hasDbXref UMLS:C1414877 ; oboInOwl:hasExactSynonym "FXYD4", "channel-inducing factor", "fxyd domain-containing ion transport regulator 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:53828 ; - skos:exactMatch HGNC_symbol:FXYD4 ; + skos:exactMatch UMLS:C1414877, + HGNC:4028, + HGNC_symbol:FXYD4 ; biolink:category biolink:Gene . OMIM:616927 a owl:Class ; rdfs:label "EXOC3L2" ; IAO:0000142 PMID:21566143, PMID:30086153 ; - oboInOwl:hasDbXref UMLS:C2239392 ; oboInOwl:hasExactSynonym "EXOC3L2", "exoc3-like 2", "exocyst complex component 3-like 2", @@ -348829,7 +363655,9 @@ OMIM:616927 a owl:Class ; "hepatitis B virus 10 antigen-transactivated gene 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90332 ; - skos:exactMatch HGNC_symbol:EXOC3L2 ; + skos:exactMatch UMLS:C2239392, + HGNC:30162, + HGNC_symbol:EXOC3L2 ; biolink:category biolink:Gene . OMIM:616928 a owl:Class ; @@ -348837,14 +363665,15 @@ OMIM:616928 a owl:Class ; IAO:0000142 PMID:22954140, PMID:24689342, PMID:26785122 ; - oboInOwl:hasDbXref UMLS:C1540018 ; oboInOwl:hasExactSynonym "DNA polymerase-transactivated protein 4", "TMEM45A", "dermal papilla-derived protein 7", "transmembrane protein 45a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55076 ; - skos:exactMatch HGNC_symbol:TMEM45A ; + skos:exactMatch UMLS:C1540018, + HGNC:25480, + HGNC_symbol:TMEM45A ; biolink:category biolink:Gene . OMIM:616929 a owl:Class ; @@ -348853,14 +363682,15 @@ OMIM:616929 a owl:Class ; PMID:19366608, PMID:20430012, PMID:20577816 ; - oboInOwl:hasDbXref UMLS:C1826319 ; oboInOwl:hasExactSynonym "MTERF2", "mterf-like", "mterfd3", "transcription termination factor 2, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80298 ; - skos:exactMatch HGNC_symbol:MTERF2 ; + skos:exactMatch UMLS:C1826319, + HGNC:30779, + HGNC_symbol:MTERF2 ; biolink:category biolink:Gene . OMIM:616930 a owl:Class ; @@ -348868,13 +363698,14 @@ OMIM:616930 a owl:Class ; IAO:0000142 PMID:17662942, PMID:20430012, PMID:20577816 ; - oboInOwl:hasDbXref UMLS:C1826317 ; oboInOwl:hasExactSynonym "MTERF3", "mterfd1", "transcription termination factor 3, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51001 ; - skos:exactMatch HGNC_symbol:MTERF3 ; + skos:exactMatch UMLS:C1826317, + HGNC:24258, + HGNC_symbol:MTERF3 ; biolink:category biolink:Gene . OMIM:616931 a owl:Class ; @@ -348882,13 +363713,14 @@ OMIM:616931 a owl:Class ; IAO:0000142 PMID:11698403, PMID:12370785, PMID:19088067 ; - oboInOwl:hasDbXref UMLS:C1426101 ; oboInOwl:hasExactSynonym "FUT10", "fucosyltransferase 10", "fuctx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84750 ; - skos:exactMatch HGNC_symbol:FUT10 ; + skos:exactMatch UMLS:C1426101, + HGNC:19234, + HGNC_symbol:FUT10 ; biolink:category biolink:Gene . OMIM:616932 a owl:Class ; @@ -348896,44 +363728,46 @@ OMIM:616932 a owl:Class ; IAO:0000142 PMID:11698403, PMID:12370785, PMID:19088067 ; - oboInOwl:hasDbXref UMLS:C1426100 ; oboInOwl:hasExactSynonym "FUT11", "fucosyltransferase 11", "fuctxi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170384 ; - skos:exactMatch HGNC_symbol:FUT11 ; + skos:exactMatch UMLS:C1426100, + HGNC:19233, + HGNC_symbol:FUT11 ; biolink:category biolink:Gene . OMIM:616933 a owl:Class ; rdfs:label "FYTTD1" ; IAO:0000142 PMID:19836239 ; - oboInOwl:hasDbXref UMLS:C1539542 ; oboInOwl:hasExactSynonym "FYTTD1", "forty-two-three domain-containing protein 1", "uap56-interacting factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84248 ; - skos:exactMatch HGNC_symbol:FYTTD1 ; + skos:exactMatch UMLS:C1539542, + HGNC:25407, + HGNC_symbol:FYTTD1 ; biolink:category biolink:Gene . OMIM:616934 a owl:Class ; rdfs:label "MEIOC" ; IAO:0000142 PMID:26742488 ; - oboInOwl:hasDbXref UMLS:C2828929 ; oboInOwl:hasExactSynonym "MEIOC", "chromosome 17 open reading frame 104", "meiosis-specific protein with coiled-coil domain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284071 ; - skos:exactMatch HGNC_symbol:MEIOC ; + skos:exactMatch UMLS:C2828929, + HGNC:26670, + HGNC_symbol:MEIOC ; biolink:category biolink:Gene . OMIM:616935 a owl:Class ; rdfs:label "FAF2" ; IAO:0000142 PMID:12372427, PMID:20160012 ; - oboInOwl:hasDbXref UMLS:C1823587 ; oboInOwl:hasExactSynonym "FAF2", "expressed 1n t cells and eosinophils 1n atopic dermatitis", "faf family, member 2", @@ -348942,7 +363776,9 @@ OMIM:616935 a owl:Class ; "ubx domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23197 ; - skos:exactMatch HGNC_symbol:FAF2 ; + skos:exactMatch UMLS:C1823587, + HGNC:24666, + HGNC_symbol:FAF2 ; biolink:category biolink:Gene . OMIM:616936 a owl:Class ; @@ -348950,7 +363786,6 @@ OMIM:616936 a owl:Class ; IAO:0000142 PMID:16095617, PMID:16554032, PMID:25689118 ; - oboInOwl:hasDbXref UMLS:C1538451 ; oboInOwl:hasExactSynonym "CHD9", "chromatin-related mesenchymal modulator", "chromodomain helicase dna-binding protein 9", @@ -348959,17 +363794,19 @@ OMIM:616936 a owl:Class ; "pric complex, 320-kd component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80205 ; - skos:exactMatch HGNC_symbol:CHD9 ; + skos:exactMatch UMLS:C1538451, + HGNC:25701, + HGNC_symbol:CHD9 ; biolink:category biolink:Gene . OMIM:616937 a owl:Class ; rdfs:label "thrombocytopenia 6" ; IAO:0000142 PMID:26936507 ; - oboInOwl:hasDbXref UMLS:C4310789 ; oboInOwl:hasExactSynonym "THC6", "thrombocytopenia 6", "thrombocytopenia, autosomal dominant, 6" ; rdfs:subClassOf OMIMPS:313900 ; + skos:exactMatch UMLS:C4310789 ; biolink:category biolink:Disease . OMIM:616938 a owl:Class ; @@ -348977,81 +363814,100 @@ OMIM:616938 a owl:Class ; IAO:0000142 PMID:22426308, PMID:23906836, PMID:25168959 ; - oboInOwl:hasDbXref UMLS:C4310788 ; oboInOwl:hasExactSynonym "CSS5", "coffin-siris syndrome 5" ; rdfs:subClassOf OMIMPS:135900, OMIMPS:156200 ; + skos:exactMatch UMLS:C4310788 ; biolink:category biolink:Disease . OMIM:616940 a owl:Class ; rdfs:label "EXD2" ; IAO:0000142 PMID:26807646 ; - oboInOwl:hasDbXref UMLS:C1825073 ; oboInOwl:hasExactSynonym "EXD2", "exdl2", "exonuclease 3-prime-to-5-prime domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55218 ; - skos:exactMatch HGNC_symbol:EXD2 ; + skos:exactMatch UMLS:C1825073, + HGNC:20217, + HGNC_symbol:EXD2 ; biolink:category biolink:Gene . +OMIM:616941 a owl:Class ; + rdfs:label "agammaglobulinemia 8a, autosomal dominant" ; + IAO:0000142 PMID:21693761, + PMID:24216514, + PMID:8001124, + PMID:8001125, + PMID:8001126 ; + oboInOwl:hasExactSynonym "AGM8A", + "agammaglobulinemia 8a, autosomal dominant", + "agammaglobulinemia, autosomal dominant, due to tcf3 defect", + "agm8" ; + rdfs:subClassOf OMIMPS:601495 ; + skos:exactMatch UMLS:C4310786 ; + biolink:category biolink:Disease . + OMIM:616942 a owl:Class ; rdfs:label "PDIA5" ; IAO:0000142 PMID:14627699, PMID:24636989, PMID:7556671 ; - oboInOwl:hasDbXref UMLS:C1538610 ; oboInOwl:hasExactSynonym "PDIA5", "protein disulfide isomerase, family a, member 5", "protein disulfide isomerase-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10954 ; - skos:exactMatch HGNC_symbol:PDIA5 ; + skos:exactMatch UMLS:C1538610, + HGNC:24811, + HGNC_symbol:PDIA5 ; biolink:category biolink:Gene . OMIM:616945 a owl:Class ; rdfs:label "CLVS2" ; IAO:0000142 PMID:19651769 ; - oboInOwl:hasDbXref UMLS:C1427873 ; oboInOwl:hasExactSynonym "CLVS2", "clathrin vesicle-associated sec14 protein 2", "clavesin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134829 ; - skos:exactMatch HGNC_symbol:CLVS2 ; + skos:exactMatch UMLS:C1427873, + HGNC:23046, + HGNC_symbol:CLVS2 ; biolink:category biolink:Gene . OMIM:616946 a owl:Class ; rdfs:label "premature ovarian failure 11" ; IAO:0000142 PMID:26218421 ; - oboInOwl:hasDbXref UMLS:C4310783 ; oboInOwl:hasExactSynonym "POF11", "premature ovarian failure 11" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C4310783 ; biolink:category biolink:Disease . OMIM:616947 a owl:Class ; rdfs:label "premature ovarian failure 12" ; IAO:0000142 PMID:25062452 ; - oboInOwl:hasDbXref UMLS:C4310782 ; oboInOwl:hasExactSynonym "POF12", "premature ovarian failure 12" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C4310782 ; biolink:category biolink:Disease . OMIM:616951 a owl:Class ; rdfs:label "MTSS1L" ; IAO:0000142 PMID:14752106, PMID:20875796 ; - oboInOwl:hasDbXref UMLS:C2681848 ; oboInOwl:hasExactSynonym "MTSS1L", "abba", "actin-bundling protein with baiap2 homology 1", "metastasis suppressor 1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92154 ; - skos:exactMatch HGNC_symbol:MTSS2 ; + skos:exactMatch UMLS:C2681848, + HGNC:25094, + HGNC_symbol:MTSS2 ; biolink:category biolink:Gene . OMIM:616952 a owl:Class ; @@ -349059,14 +363915,15 @@ OMIM:616952 a owl:Class ; IAO:0000142 PMID:23178883, PMID:25565209, PMID:26976564 ; - oboInOwl:hasDbXref UMLS:C1824616 ; oboInOwl:hasExactSynonym "MCUR1", "coiled-coil domain-containing protein 90a", "fmp32, s. cerevisiae, homolog of", "mitochondrial calcium uniporter regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63933 ; - skos:exactMatch HGNC_symbol:MCUR1 ; + skos:exactMatch UMLS:C1824616, + HGNC:21097, + HGNC_symbol:MCUR1 ; biolink:category biolink:Gene . OMIM:616953 a owl:Class ; @@ -349076,7 +363933,6 @@ OMIM:616953 a owl:Class ; PMID:17924204, PMID:22351782, PMID:25557959 ; - oboInOwl:hasDbXref UMLS:C1824814 ; oboInOwl:hasExactSynonym "CUTA", "acetylcholinesterase-associated protein", "chromosome 6 open reading frame 82", @@ -349085,7 +363941,9 @@ OMIM:616953 a owl:Class ; "divalent cation tolerance protein cuta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51596 ; - skos:exactMatch HGNC_symbol:CUTA ; + skos:exactMatch UMLS:C1824814, + HGNC:21101, + HGNC_symbol:CUTA ; biolink:category biolink:Gene . OMIM:616955 a owl:Class ; @@ -349096,40 +363954,43 @@ OMIM:616955 a owl:Class ; PMID:20231315, PMID:21485012, PMID:23991227 ; - oboInOwl:hasDbXref UMLS:C1426806 ; oboInOwl:hasExactSynonym "REM2", "rad- and gem-like gtp-binding protein 2", "rem-, rad-, and gem-related protein 2", "rrad- and gem-like gtpase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161253 ; - skos:exactMatch HGNC_symbol:REM2 ; + skos:exactMatch UMLS:C1426806, + HGNC:20248, + HGNC_symbol:REM2 ; biolink:category biolink:Gene . OMIM:616956 a owl:Class ; rdfs:label "TPPP2" ; IAO:0000142 PMID:17105200 ; - oboInOwl:hasDbXref UMLS:C1426147 ; oboInOwl:hasExactSynonym "TPPP2", "p18", "tppp family, member 2", "tubulin polymerization-promoting protein family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122664 ; - skos:exactMatch HGNC_symbol:TPPP2 ; + skos:exactMatch UMLS:C1426147, + HGNC:19293, + HGNC_symbol:TPPP2 ; biolink:category biolink:Gene . OMIM:616957 a owl:Class ; rdfs:label "TPPP3" ; IAO:0000142 PMID:17105200 ; - oboInOwl:hasDbXref UMLS:C2240116 ; oboInOwl:hasExactSynonym "TPPP3", "p20", "tppp family, member 3", "tubulin polymerization-promoting protein family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51673 ; - skos:exactMatch HGNC_symbol:TPPP3 ; + skos:exactMatch UMLS:C2240116, + HGNC:24162, + HGNC_symbol:TPPP3 ; biolink:category biolink:Gene . OMIM:616958 a owl:Class ; @@ -349139,59 +364000,62 @@ OMIM:616958 a owl:Class ; OMIM:616959 a owl:Class ; rdfs:label "retinitis pigmentosa and erythrocytic microcytosis" ; IAO:0000142 PMID:26494905 ; - oboInOwl:hasDbXref UMLS:C4310776 ; oboInOwl:hasExactSynonym "RPEM", "retinitis pigmentosa and erythrocytic microcytosis" ; + skos:exactMatch UMLS:C4310776 ; biolink:category biolink:Disease . OMIM:616960 a owl:Class ; rdfs:label "GIMAP6" ; IAO:0000142 PMID:15474311, PMID:23454188 ; - oboInOwl:hasDbXref UMLS:C1539567 ; oboInOwl:hasExactSynonym "GIMAP6", "gtpase, imap family, member 6", "gtpase, immunity-associated protein family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:474344 ; - skos:exactMatch HGNC_symbol:GIMAP6 ; + skos:exactMatch UMLS:C1539567, + HGNC:21918, + HGNC_symbol:GIMAP6 ; biolink:category biolink:Gene . OMIM:616961 a owl:Class ; rdfs:label "GIMAP7" ; IAO:0000142 PMID:15474311, PMID:23454188 ; - oboInOwl:hasDbXref UMLS:C1539568 ; oboInOwl:hasExactSynonym "GIMAP7", "gtpase, imap family, member 7", "gtpase, immunity-associated protein family, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:168537 ; - skos:exactMatch HGNC_symbol:GIMAP7 ; + skos:exactMatch UMLS:C1539568, + HGNC:22404, + HGNC_symbol:GIMAP7 ; biolink:category biolink:Gene . OMIM:616962 a owl:Class ; rdfs:label "GIMAP8" ; IAO:0000142 PMID:15474311, PMID:23454188 ; - oboInOwl:hasDbXref UMLS:C1539569 ; oboInOwl:hasExactSynonym "GIMAP8", "gtpase, imap family, member 8", "gtpase, immunity-associated protein family, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155038 ; - skos:exactMatch HGNC_symbol:GIMAP8 ; + skos:exactMatch UMLS:C1539569, + HGNC:21792, + HGNC_symbol:GIMAP8 ; biolink:category biolink:Gene . OMIM:616963 a owl:Class ; rdfs:label "hypercalcemia, infantile, 2" ; IAO:0000142 PMID:20466674, PMID:26047794 ; - oboInOwl:hasDbXref UMLS:C4310473, - ORPHA:300547 ; oboInOwl:hasExactSynonym "HCINF2", "hypercalcemia, infantile, 2" ; rdfs:subClassOf OMIMPS:143880 ; + skos:exactMatch UMLS:C4310473, + ORPHA:300547 ; biolink:category biolink:Disease . OMIM:616964 a owl:Class ; @@ -349203,13 +364067,14 @@ OMIM:616965 a owl:Class ; rdfs:label "ADGRG5" ; IAO:0000142 PMID:25713288, PMID:26499266 ; - oboInOwl:hasDbXref UMLS:C1425948 ; oboInOwl:hasExactSynonym "ADGRG5", "adhesion g protein-coupled receptor g5", "g protein-coupled receptor 114" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221188 ; - skos:exactMatch HGNC_symbol:ADGRG5 ; + skos:exactMatch UMLS:C1425948, + HGNC:19010, + HGNC_symbol:ADGRG5 ; biolink:category biolink:Gene . OMIM:616966 a owl:Class ; @@ -349217,13 +364082,14 @@ OMIM:616966 a owl:Class ; IAO:0000142 PMID:18360779, PMID:22969151, PMID:27114538 ; - oboInOwl:hasDbXref UMLS:C1427543 ; oboInOwl:hasExactSynonym "ABHD6", "abhydrolase domain-containing protein 6, acylglycerol lipase", "alpha/beta-hydrolase domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57406 ; - skos:exactMatch HGNC_symbol:ABHD6 ; + skos:exactMatch UMLS:C1427543, + HGNC:21398, + HGNC_symbol:ABHD6 ; biolink:category biolink:Gene . OMIM:616967 a owl:Class ; @@ -349232,14 +364098,15 @@ OMIM:616967 a owl:Class ; PMID:14607844, PMID:24778250, PMID:25002534 ; - oboInOwl:hasDbXref UMLS:C1428681 ; oboInOwl:hasExactSynonym "TXNDC17", "thioredoxin domain-containing protein 17", "thioredoxin-like protein 5", "thioredoxin-related protein, 14-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84817 ; - skos:exactMatch HGNC_symbol:TXNDC17 ; + skos:exactMatch UMLS:C1428681, + HGNC:28218, + HGNC_symbol:TXNDC17 ; biolink:category biolink:Gene . OMIM:616970 a owl:Class ; @@ -349248,13 +364115,14 @@ OMIM:616970 a owl:Class ; PMID:21347699, PMID:23826386, PMID:24055813 ; - oboInOwl:hasDbXref UMLS:C1428734 ; oboInOwl:hasExactSynonym "MARVELD1", "marvel domain-containing protein 1", "mrvldc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83742 ; - skos:exactMatch HGNC_symbol:MARVELD1 ; + skos:exactMatch UMLS:C1428734, + HGNC:28674, + HGNC_symbol:MARVELD1 ; biolink:category biolink:Gene . OMIM:616971 a owl:Class ; @@ -349262,7 +364130,6 @@ OMIM:616971 a owl:Class ; IAO:0000142 PMID:15308636, PMID:17020792, PMID:23212913 ; - oboInOwl:hasDbXref UMLS:C1709144 ; oboInOwl:hasExactSynonym "ERGIC3", "chromosome 20 open reading frame 47", "endoplasmic reticulum-associated protein, 43-kd", @@ -349270,78 +364137,85 @@ OMIM:616971 a owl:Class ; "ergic and golgi protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51614 ; - skos:exactMatch HGNC_symbol:ERGIC3 ; + skos:exactMatch UMLS:C1709144, + HGNC:15927, + HGNC_symbol:ERGIC3 ; biolink:category biolink:Gene . OMIM:616972 a owl:Class ; rdfs:label "MIR490" ; IAO:0000142 PMID:23212913 ; - oboInOwl:hasDbXref UMLS:C1826044 ; oboInOwl:hasExactSynonym "MIR490", "micro RNA 490", "mirna490" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574443 ; - skos:exactMatch HGNC_symbol:MIR490 ; + skos:exactMatch UMLS:C1826044, + HGNC:32075, + HGNC_symbol:MIR490 ; biolink:category biolink:Gene . OMIM:616973 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 42" ; IAO:0000142 PMID:25485910, PMID:27108799 ; - oboInOwl:hasDbXref UMLS:C4310774 ; oboInOwl:hasExactSynonym "MRD42", "intellectual developmental disorder, autosomal dominant 42", "mental retardation, autosomal dominant 42" ; + skos:exactMatch UMLS:C4310774 ; biolink:category biolink:Disease . OMIM:616976 a owl:Class ; rdfs:label "TRIM40" ; IAO:0000142 PMID:21474709 ; - oboInOwl:hasDbXref UMLS:C1425747 ; oboInOwl:hasExactSynonym "TRIM40", "ring finger protein 35", "tripartite motif-containing protein 40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135644 ; - skos:exactMatch HGNC_symbol:TRIM40 ; + skos:exactMatch UMLS:C1425747, + HGNC:18736, + HGNC_symbol:TRIM40 ; biolink:category biolink:Gene . OMIM:616978 a owl:Class ; rdfs:label "CHCHD5" ; IAO:0000142 PMID:22842048 ; - oboInOwl:hasDbXref UMLS:C1425121 ; oboInOwl:hasExactSynonym "CHCHD5", "coiled coil-helix-coiled coil-helix domain-containing protein 5", "mitochondrial intermembrane space cysteine motif protein, 14-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84269 ; - skos:exactMatch HGNC_symbol:CHCHD5 ; + skos:exactMatch UMLS:C1425121, + HGNC:17840, + HGNC_symbol:CHCHD5 ; biolink:category biolink:Gene . OMIM:616979 a owl:Class ; rdfs:label "DTHD1" ; IAO:0000142 PMID:23105016 ; - oboInOwl:hasDbXref UMLS:C2829281 ; oboInOwl:hasExactSynonym "DTHD1", "death domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401124 ; - skos:exactMatch HGNC_symbol:DTHD1 ; + skos:exactMatch UMLS:C2829281, + HGNC:37261, + HGNC_symbol:DTHD1 ; biolink:category biolink:Gene . OMIM:616980 a owl:Class ; rdfs:label "CYREN" ; IAO:0000142 PMID:24610814, PMID:28959974 ; - oboInOwl:hasDbXref UMLS:C1824234 ; oboInOwl:hasExactSynonym "CYREN", "cell cycle regulator of nonhomologous end joining", "chromosome 7 open reading frame 49", "modulator of retrovirus infection" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:78996 ; - skos:exactMatch HGNC_symbol:CYREN ; + skos:exactMatch UMLS:C1824234, + HGNC:22432, + HGNC_symbol:CYREN ; biolink:category biolink:Gene . OMIM:616982 a owl:Class ; @@ -349350,19 +364224,19 @@ OMIM:616982 a owl:Class ; PMID:27181681 ; RO:0002525 CHR:9606chr5q23.2 ; RO:0003303 OMIM:617039 ; - oboInOwl:hasDbXref UMLS:C1418877 ; oboInOwl:hasExactSynonym "PRDM6", "pr domain-containing protein 1n smooth muscle", "pr domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93166 ; - skos:exactMatch HGNC_symbol:PRDM6 ; + skos:exactMatch UMLS:C1418877, + HGNC:9350, + HGNC_symbol:PRDM6 ; biolink:category biolink:Gene . OMIM:616983 a owl:Class ; rdfs:label "ENPP6" ; IAO:0000142 PMID:15788404 ; - oboInOwl:hasDbXref UMLS:C1428075 ; oboInOwl:hasExactSynonym "ENPP6", "choline-specific glycerophosphodiester phosphodiesterase", "ectonucleotide pyrophosphatase/phosphodiesterase 6", @@ -349370,21 +364244,24 @@ OMIM:616983 a owl:Class ; "npp6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133121 ; - skos:exactMatch HGNC_symbol:ENPP6 ; + skos:exactMatch UMLS:C1428075, + HGNC:23409, + HGNC_symbol:ENPP6 ; biolink:category biolink:Gene . OMIM:616984 a owl:Class ; rdfs:label "NPVF" ; IAO:0000142 PMID:11025660, PMID:11951088 ; - oboInOwl:hasDbXref UMLS:C1826468 ; oboInOwl:hasExactSynonym "NPVF", "chromosome 7 open reading fame 9", "neuropeptide 5f precursor", "rf-amide-related peptide precursor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64111 ; - skos:exactMatch HGNC_symbol:NPVF ; + skos:exactMatch UMLS:C1826468, + HGNC:13782, + HGNC_symbol:NPVF ; biolink:category biolink:Gene . OMIM:616985 a owl:Class ; @@ -349392,102 +364269,108 @@ OMIM:616985 a owl:Class ; IAO:0000142 PMID:11371646, PMID:12732850, PMID:19477263 ; - oboInOwl:hasDbXref UMLS:C3148432 ; oboInOwl:hasExactSynonym "MTRNR2L1", "humanin-like 1", "mtrnr2-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100462977 ; - skos:exactMatch HGNC_symbol:MTRNR2L1 ; + skos:exactMatch UMLS:C3148432, + HGNC:37155, + HGNC_symbol:MTRNR2L1 ; biolink:category biolink:Gene . OMIM:616986 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:27236921 ; - oboInOwl:hasDbXref UMLS:C4310834 ; oboInOwl:hasExactSynonym "lincrna ac011288.2", "loc105375159", "long intergenic noncoding RNA ac011288.2" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C4310834 ; biolink:category biolink:Gene . OMIM:616987 a owl:Class ; rdfs:label "C6ORF120" ; IAO:0000142 PMID:22340178 ; - oboInOwl:hasDbXref UMLS:C1427451 ; oboInOwl:hasExactSynonym "C6ORF120", "chromosome 6 open reading frame 120" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387263 ; - skos:exactMatch HGNC_symbol:C6orf120 ; + skos:exactMatch UMLS:C1427451, + HGNC:21247, + HGNC_symbol:C6orf120 ; biolink:category biolink:Gene . OMIM:616988 a owl:Class ; rdfs:label "CLLU1" ; IAO:0000142 PMID:16339396, PMID:16529606 ; - oboInOwl:hasDbXref UMLS:C1824750 ; oboInOwl:hasExactSynonym "CLLU1", "chronic lymphocytic leukemia upregulated gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574028 ; - skos:exactMatch HGNC_symbol:CLLU1 ; + skos:exactMatch UMLS:C1824750, + HGNC:29841, + HGNC_symbol:CLLU1 ; biolink:category biolink:Gene . OMIM:616989 a owl:Class ; rdfs:label "CLLU1OS" ; IAO:0000142 PMID:16339396 ; - oboInOwl:hasDbXref UMLS:C1824751 ; oboInOwl:hasExactSynonym "CLLU1OS", "chronic lymphocytic leukemia upregulated 1, opposite strand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574016 ; - skos:exactMatch HGNC_symbol:CLLU1-AS1 ; + skos:exactMatch UMLS:C1824751, + HGNC:24070, + HGNC_symbol:CLLU1-AS1 ; biolink:category biolink:Gene . OMIM:616990 a owl:Class ; rdfs:label "CLUL1" ; IAO:0000142 PMID:10675623, PMID:14507903 ; - oboInOwl:hasDbXref UMLS:C1413515 ; oboInOwl:hasExactSynonym "CLUL1", "clusterin-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27098 ; - skos:exactMatch HGNC_symbol:CLUL1 ; + skos:exactMatch UMLS:C1413515, + HGNC:2096, + HGNC_symbol:CLUL1 ; biolink:category biolink:Gene . OMIM:616991 a owl:Class ; rdfs:label "MUC21" ; IAO:0000142 PMID:17977904, PMID:20388707 ; - oboInOwl:hasDbXref UMLS:C1427682 ; oboInOwl:hasExactSynonym "MUC21", "chromosome 6 open reading frame 205", "epiglycanin", "mucin 21, cell surface-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:394263 ; - skos:exactMatch HGNC_symbol:MUC21 ; + skos:exactMatch UMLS:C1427682, + HGNC:21661, + HGNC_symbol:MUC21 ; biolink:category biolink:Gene . OMIM:616992 a owl:Class ; rdfs:label "C8ORF17" ; IAO:0000142 PMID:12665628, PMID:17143515 ; - oboInOwl:hasDbXref UMLS:C1425057 ; oboInOwl:hasExactSynonym "C8ORF17", "chromosome 8 open reading frame 17", "molt-4 sequence tag 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507249 ; - skos:exactMatch HGNC_symbol:C8orf17 ; + skos:exactMatch UMLS:C1425057, + HGNC:17737, + HGNC_symbol:C8orf17 ; biolink:category biolink:Gene . OMIM:616993 a owl:Class ; rdfs:label "TMEM243" ; IAO:0000142 PMID:15556294 ; - oboInOwl:hasDbXref UMLS:C1427708 ; oboInOwl:hasExactSynonym "TMEM243", "chromosome 7 open reading frame 23", "mdr1- and mitochondrial taxol resistance-associated gene", @@ -349495,7 +364378,9 @@ OMIM:616993 a owl:Class ; "transmembrane protein 243" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79161 ; - skos:exactMatch HGNC_symbol:TMEM243 ; + skos:exactMatch UMLS:C1427708, + HGNC:21707, + HGNC_symbol:TMEM243 ; biolink:category biolink:Gene . OMIM:616995 a owl:Class ; @@ -349504,13 +364389,14 @@ OMIM:616995 a owl:Class ; PMID:17310242, PMID:25862660, PMID:26657846 ; - oboInOwl:hasDbXref UMLS:C0008288 ; oboInOwl:hasExactSynonym "CIPC", "clock-interacting pacemaker", "kiaa1737" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85457 ; - skos:exactMatch HGNC_symbol:CIPC ; + skos:exactMatch UMLS:C0008288, + HGNC:20365, + HGNC_symbol:CIPC ; biolink:category biolink:Gene . OMIM:616996 a owl:Class ; @@ -349519,37 +364405,40 @@ OMIM:616996 a owl:Class ; PMID:21289118, PMID:22948160, PMID:25253338 ; - oboInOwl:hasDbXref UMLS:C1425964 ; oboInOwl:hasExactSynonym "TRIM56", "tripartite motif-containing protein 56" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81844 ; - skos:exactMatch HGNC_symbol:TRIM56 ; + skos:exactMatch UMLS:C1425964, + HGNC:19028, + HGNC_symbol:TRIM56 ; biolink:category biolink:Gene . OMIM:616997 a owl:Class ; rdfs:label "ENPP7" ; IAO:0000142 PMID:12885774, PMID:15016655 ; - oboInOwl:hasDbXref UMLS:C1539359 ; oboInOwl:hasExactSynonym "ENPP7", "alkaline sphingomyelinase", "ectonucleotide pyrophosphatase/phosphodiesterase 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339221 ; - skos:exactMatch HGNC_symbol:ENPP7 ; + skos:exactMatch UMLS:C1539359, + HGNC:23764, + HGNC_symbol:ENPP7 ; biolink:category biolink:Gene . OMIM:616998 a owl:Class ; rdfs:label "LLPH" ; IAO:0000142 PMID:26961175 ; - oboInOwl:hasDbXref UMLS:C1824352 ; oboInOwl:hasExactSynonym "LLPH", "llp, aplysia, homolog of", "long-term synaptic facilitation protein llph" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84298 ; - skos:exactMatch HGNC_symbol:LLPH ; + skos:exactMatch UMLS:C1824352, + HGNC:28229, + HGNC_symbol:LLPH ; biolink:category biolink:Gene . OMIM:616999 a owl:Class ; @@ -349558,7 +364447,6 @@ OMIM:616999 a owl:Class ; PMID:21747913, PMID:24215932, PMID:26619789 ; - oboInOwl:hasDbXref UMLS:C3146324 ; oboInOwl:hasExactSynonym "RBFOX3", "fox3", "hexaribonucleotide-binding protein 3", @@ -349567,7 +364455,9 @@ OMIM:616999 a owl:Class ; "rna-binding protein fox1, c. elegans, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146713 ; - skos:exactMatch HGNC_symbol:RBFOX3 ; + skos:exactMatch UMLS:C3146324, + HGNC:27097, + HGNC_symbol:RBFOX3 ; biolink:category biolink:Gene . OMIM:617000 a owl:Class ; @@ -349575,33 +364465,34 @@ OMIM:617000 a owl:Class ; IAO:0000142 PMID:10048485, PMID:11027689, PMID:22995898 ; - oboInOwl:hasDbXref UMLS:C1414410 ; oboInOwl:hasExactSynonym "ENPP4", "ectonucleotide pyrophosphatase/phosphodiesterase 4", "kiaa0879", "npp4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22875 ; - skos:exactMatch HGNC_symbol:ENPP4 ; + skos:exactMatch UMLS:C1414410, + HGNC:3359, + HGNC_symbol:ENPP4 ; biolink:category biolink:Gene . OMIM:617001 a owl:Class ; rdfs:label "ENPP5" ; IAO:0000142 PMID:11027689 ; - oboInOwl:hasDbXref UMLS:C1422160 ; oboInOwl:hasExactSynonym "ENPP5", "ectonucleotide pyrophosphatase/phosphodiesterase 5", "npp5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59084 ; - skos:exactMatch HGNC_symbol:ENPP5 ; + skos:exactMatch UMLS:C1422160, + HGNC:13717, + HGNC_symbol:ENPP5 ; biolink:category biolink:Gene . OMIM:617002 a owl:Class ; rdfs:label "BICDL1" ; IAO:0000142 PMID:20360680, PMID:29420470 ; - oboInOwl:hasDbXref UMLS:C1824588 ; oboInOwl:hasExactSynonym "BICDL1", "bicaudal d-related protein 1", "bicd family-like cargo adaptor 1", @@ -349609,41 +364500,45 @@ OMIM:617002 a owl:Class ; "coiled-coil domain-containing protein 64" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92558 ; - skos:exactMatch HGNC_symbol:BICDL1 ; + skos:exactMatch UMLS:C1824588, + HGNC:28095, + HGNC_symbol:BICDL1 ; biolink:category biolink:Gene . OMIM:617003 a owl:Class ; rdfs:label "BICDL2" ; IAO:0000142 PMID:20360680 ; - oboInOwl:hasDbXref UMLS:C2240340 ; oboInOwl:hasExactSynonym "BICDL2", "bicaudal d-related protein 2", "bicd family-like cargo adaptor 2", "coiled-coil domain-containing protein 64b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146439 ; - skos:exactMatch HGNC_symbol:BICDL2 ; + skos:exactMatch UMLS:C2240340, + HGNC:33584, + HGNC_symbol:BICDL2 ; biolink:category biolink:Gene . OMIM:617005 a owl:Class ; rdfs:label "CLDN17" ; IAO:0000142 PMID:22402829, PMID:26194246 ; - oboInOwl:hasDbXref UMLS:C1413466 ; oboInOwl:hasExactSynonym "CLDN17", "claudin 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26285 ; - skos:exactMatch HGNC_symbol:CLDN17 ; + skos:exactMatch UMLS:C1413466, + HGNC:2038, + HGNC_symbol:CLDN17 ; biolink:category biolink:Gene . OMIM:617006 a owl:Class ; rdfs:label "autoimmune disease, multisystem, infantile-onset, 2" ; IAO:0000142 PMID:26783323 ; - oboInOwl:hasDbXref UMLS:C4310768 ; oboInOwl:hasExactSynonym "ADMIO2", "autoimmune disease, multisystem, infantile-onset, 2" ; rdfs:subClassOf OMIMPS:615952 ; + skos:exactMatch UMLS:C4310768 ; biolink:category biolink:Disease . OMIM:617007 a owl:Class ; @@ -349652,7 +364547,6 @@ OMIM:617007 a owl:Class ; PMID:12692137, PMID:14662771, PMID:25263439 ; - oboInOwl:hasDbXref UMLS:C1424153 ; oboInOwl:hasExactSynonym "TRIM35", "hemopoietic lineage switch 5", "kiaa1098", @@ -349660,131 +364554,139 @@ OMIM:617007 a owl:Class ; "tripartite motif-containing protein 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23087 ; - skos:exactMatch HGNC_symbol:TRIM35 ; + skos:exactMatch UMLS:C1424153, + HGNC:16285, + HGNC_symbol:TRIM35 ; biolink:category biolink:Gene . OMIM:617009 a owl:Class ; rdfs:label "ANKRD53" ; IAO:0000142 PMID:26820536 ; - oboInOwl:hasDbXref UMLS:C1823687 ; oboInOwl:hasExactSynonym "ANKRD53", "ankyrin repeat domain-containing protein 53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79998 ; - skos:exactMatch HGNC_symbol:ANKRD53 ; + skos:exactMatch UMLS:C1823687, + HGNC:25691, + HGNC_symbol:ANKRD53 ; biolink:category biolink:Gene . OMIM:617010 a owl:Class ; rdfs:label "ULK4" ; IAO:0000142 PMID:21746835, PMID:24284070 ; - oboInOwl:hasDbXref UMLS:C1540162 ; oboInOwl:hasExactSynonym "ULK4", "fam7c1", "serine/threonine protein kinase ulk4", "unc51-like kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54986 ; - skos:exactMatch HGNC_symbol:ULK4 ; + skos:exactMatch UMLS:C1540162, + HGNC:15784, + HGNC_symbol:ULK4 ; biolink:category biolink:Gene . OMIM:617012 a owl:Class ; rdfs:label "PVRIG" ; IAO:0000142 PMID:16926269, PMID:26755705 ; - oboInOwl:hasDbXref UMLS:C1826741 ; oboInOwl:hasExactSynonym "PVRIG", "cd112 receptor", "chromosome 7 open reading frome 15", "poliovirus receptor-related immunoglobulin domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79037 ; - skos:exactMatch HGNC_symbol:PVRIG ; + skos:exactMatch UMLS:C1826741, + HGNC:32190, + HGNC_symbol:PVRIG ; biolink:category biolink:Gene . OMIM:617015 a owl:Class ; rdfs:label "PLCXD2" ; IAO:0000142 PMID:22732399 ; - oboInOwl:hasDbXref UMLS:C1538666 ; oboInOwl:hasExactSynonym "PLCXD2", "phospholipase c, phosphatidylinositol-specific, 10 domain-containing protein 2", "piplc 10 domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257068 ; - skos:exactMatch HGNC_symbol:PLCXD2 ; + skos:exactMatch UMLS:C1538666, + HGNC:26462, + HGNC_symbol:PLCXD2 ; biolink:category biolink:Gene . OMIM:617016 a owl:Class ; rdfs:label "PLCXD3" ; IAO:0000142 PMID:22732399 ; - oboInOwl:hasDbXref UMLS:C1538667 ; oboInOwl:hasExactSynonym "PLCXD3", "phospholipase c, phosphatidylinositol-specific, 10 domain-containing protein 3", "piplc 10 domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345557 ; - skos:exactMatch HGNC_symbol:PLCXD3 ; + skos:exactMatch UMLS:C1538667, + HGNC:31822, + HGNC_symbol:PLCXD3 ; biolink:category biolink:Gene . OMIM:617018 a owl:Class ; rdfs:label "spinocerebellar ataxia 43" ; IAO:0000142 PMID:27583304 ; - oboInOwl:hasDbXref UMLS:C4310763 ; oboInOwl:hasExactSynonym "SCA43", "spinocerebellar ataxia 43" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C4310763 ; biolink:category biolink:Disease . OMIM:617019 a owl:Class ; rdfs:label "TMEM230" ; IAO:0000142 PMID:24218364, PMID:27270108 ; - oboInOwl:hasDbXref UMLS:C3470097 ; oboInOwl:hasExactSynonym "TMEM230", "chromosome 20 open reading frame 30", "transmembrane protein 230" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29058 ; - skos:exactMatch HGNC_symbol:TMEM230 ; + skos:exactMatch UMLS:C3470097, + HGNC:15876, + HGNC_symbol:TMEM230 ; biolink:category biolink:Gene . OMIM:617021 a owl:Class ; rdfs:label "hydrops, lactic acidosis, and sideroblastic anemia" ; IAO:0000142 PMID:26537577, PMID:32442335 ; - oboInOwl:hasDbXref UMLS:C4310761 ; oboInOwl:hasExactSynonym "HLASA", "hydrops, lactic acidosis, and sideroblastic anemia" ; + skos:exactMatch UMLS:C4310761 ; biolink:category biolink:Disease . OMIM:617022 a owl:Class ; rdfs:label "lethal congenital contracture syndrome 10" ; IAO:0000142 PMID:26908619 ; - oboInOwl:hasDbXref UMLS:C4310760, - ORPHA:464366 ; oboInOwl:hasExactSynonym "LCCS10", "lethal congenital contracture syndrome 10" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C4310760, + ORPHA:464366 ; biolink:category biolink:Disease . OMIM:617024 a owl:Class ; rdfs:label "night blindness, congenital stationary, iia 1h" ; IAO:0000142 PMID:27063057 ; - oboInOwl:hasDbXref UMLS:C4310758 ; oboInOwl:hasExactSynonym "CSNB1H", "night blindness, congenital stationary, iia 1h" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C4310758 ; biolink:category biolink:Disease . OMIM:617027 a owl:Class ; rdfs:label "hyperaldosteronism, familial, iia 4" ; IAO:0000142 PMID:25907736 ; - oboInOwl:hasDbXref UMLS:C4310756 ; oboInOwl:hasExactSynonym "HALD4", "aldosteronism, primary, and hypertension", "fh 4", "hyperaldosteronism, familial, iia 4" ; rdfs:subClassOf OMIMPS:103900 ; + skos:exactMatch UMLS:C4310756 ; biolink:category biolink:Disease . OMIM:617029 a owl:Class ; @@ -349792,62 +364694,67 @@ OMIM:617029 a owl:Class ; IAO:0000142 PMID:15978582, PMID:21270411, PMID:24474252 ; - oboInOwl:hasDbXref UMLS:C1419948 ; oboInOwl:hasExactSynonym "SEMA4B", "semaphorin 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10509 ; - skos:exactMatch HGNC_symbol:SEMA4B ; + skos:exactMatch UMLS:C1419948, + HGNC:10730, + HGNC_symbol:SEMA4B ; biolink:category biolink:Gene . OMIM:617031 a owl:Class ; rdfs:label "PRPF38A" ; IAO:0000142 PMID:26673105 ; - oboInOwl:hasDbXref UMLS:C1826707 ; oboInOwl:hasExactSynonym "PRPF38A", "pre-mrna-processing factor 38a", "precursor mrna-processing factor 38, s. cerevisiae, homolog of, a", "prp38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84950 ; - skos:exactMatch HGNC_symbol:PRPF38A ; + skos:exactMatch UMLS:C1826707, + HGNC:25930, + HGNC_symbol:PRPF38A ; biolink:category biolink:Gene . OMIM:617032 a owl:Class ; rdfs:label "PGGHG" ; IAO:0000142 PMID:26682924 ; - oboInOwl:hasDbXref UMLS:C1825504 ; oboInOwl:hasExactSynonym "PGGHG", "acid trehalase-like protein 1", "protein-glucosylgalactosylhydroxylysine glucosidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80162 ; - skos:exactMatch HGNC_symbol:PGGHG ; + skos:exactMatch UMLS:C1825504, + HGNC:26210, + HGNC_symbol:PGGHG ; biolink:category biolink:Gene . OMIM:617033 a owl:Class ; rdfs:label "CASTOR2" ; IAO:0000142 PMID:26972053 ; - oboInOwl:hasDbXref UMLS:C2681542 ; oboInOwl:hasExactSynonym "CASTOR2", "cellular arginine sensor for mtorc1 protein 2", "gats protein-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729438 ; - skos:exactMatch HGNC_symbol:CASTOR2 ; + skos:exactMatch UMLS:C2681542, + HGNC:37073, + HGNC_symbol:CASTOR2 ; biolink:category biolink:Gene . OMIM:617034 a owl:Class ; rdfs:label "CASTOR1" ; IAO:0000142 PMID:26972053, PMID:27487210 ; - oboInOwl:hasDbXref UMLS:C2681543 ; oboInOwl:hasExactSynonym "CASTOR1", "cellular arginine sensor for mtorc1 protein 1", "gats protein-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:652968 ; - skos:exactMatch HGNC_symbol:CASTOR1 ; + skos:exactMatch UMLS:C2681543, + HGNC:34423, + HGNC_symbol:CASTOR1 ; biolink:category biolink:Gene . OMIM:617036 a owl:Class ; @@ -349857,21 +364764,21 @@ OMIM:617036 a owl:Class ; PMID:26792856 ; RO:0002525 CHR:9606chr11q13.5 ; RO:0003303 OMIM:617762 ; - oboInOwl:hasDbXref UMLS:C1423950 ; oboInOwl:hasExactSynonym "ACER3", "alkaline ceramidase 3", "alkaline phytoceramidase", "phytoceramidase, alkaline" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55331 ; - skos:exactMatch HGNC_symbol:ACER3 ; + skos:exactMatch UMLS:C1423950, + HGNC:16066, + HGNC_symbol:ACER3 ; biolink:category biolink:Gene . OMIM:617037 a owl:Class ; rdfs:label "NORAD" ; IAO:0000142 PMID:26724866, PMID:30150775 ; - oboInOwl:hasDbXref UMLS:C3540293 ; oboInOwl:hasExactSynonym "NORAD", "lincrna 657", "lncrna norad", @@ -349880,44 +364787,48 @@ OMIM:617037 a owl:Class ; "noncoding RNA activated by DNA damage" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:647979 ; - skos:exactMatch HGNC_symbol:NORAD ; + skos:exactMatch UMLS:C3540293, + HGNC:44311, + HGNC_symbol:NORAD ; biolink:category biolink:Gene . OMIM:617038 a owl:Class ; rdfs:label "LINC01370" ; IAO:0000142 PMID:23040067 ; - oboInOwl:hasDbXref UMLS:C3891770 ; oboInOwl:hasExactSynonym "LINC01370", "human islet long noncoding RNA 25", "lincrna 1370", "long intergenic noncoding RNA 1370" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100505663 ; - skos:exactMatch HGNC_symbol:LINC01370 ; + skos:exactMatch UMLS:C3891770, + HGNC:50608, + HGNC_symbol:LINC01370 ; biolink:category biolink:Gene . OMIM:617040 a owl:Class ; rdfs:label "MIR1231" ; IAO:0000142 PMID:16381832, PMID:22824466 ; - oboInOwl:hasDbXref UMLS:C2239749 ; oboInOwl:hasExactSynonym "MIR1231", "micro RNA 1231", "mirna1231" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100302158 ; - skos:exactMatch HGNC_symbol:MIR1231 ; + skos:exactMatch UMLS:C2239749, + HGNC:33921, + HGNC_symbol:MIR1231 ; biolink:category biolink:Gene . OMIM:617041 a owl:Class ; rdfs:label "duane retraction syndrome 3 with or without deafness" ; IAO:0000142 PMID:27181683 ; - oboInOwl:hasDbXref UMLS:C4310752, - ORPHA:233, - ORPHA:529574 ; oboInOwl:hasExactSynonym "DURS3", "duane retraction syndrome 3 with or without deafness" ; rdfs:subClassOf OMIMPS:126800 ; + skos:exactMatch UMLS:C4310752, + ORPHA:233, + ORPHA:529574 ; biolink:category biolink:Disease . OMIM:617042 a owl:Class ; @@ -349931,14 +364842,15 @@ OMIM:617042 a owl:Class ; PMID:30404813, PMID:30467171, PMID:32820063 ; - oboInOwl:hasDbXref UMLS:C1539620 ; oboInOwl:hasExactSynonym "GSDMD", "dfna5-like", "gasdermin d", "gasdermin domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79792 ; - skos:exactMatch HGNC_symbol:GSDMD ; + skos:exactMatch UMLS:C1539620, + HGNC:25697, + HGNC_symbol:GSDMD ; biolink:category biolink:Gene . OMIM:617043 a owl:Class ; @@ -349947,7 +364859,6 @@ OMIM:617043 a owl:Class ; PMID:22911862, PMID:23195829, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1427723 ; oboInOwl:hasExactSynonym "ARHGEF17", "kiaa0337", "rho guanine nucleotide exchange factor 17", @@ -349956,7 +364867,9 @@ OMIM:617043 a owl:Class ; "tumor endothelial marker 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9828 ; - skos:exactMatch HGNC_symbol:ARHGEF17 ; + skos:exactMatch UMLS:C1427723, + HGNC:21726, + HGNC_symbol:ARHGEF17 ; biolink:category biolink:Gene . OMIM:617045 a owl:Class ; @@ -349966,7 +364879,6 @@ OMIM:617045 a owl:Class ; PMID:21337521, PMID:22886885, PMID:27090637 ; - oboInOwl:hasDbXref UMLS:C1824002 ; oboInOwl:hasExactSynonym "ZNF703", "noca-like zinc finger 1", "zfp703", @@ -349974,20 +364886,22 @@ OMIM:617045 a owl:Class ; "zinc finger protein 703" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80139 ; - skos:exactMatch HGNC_symbol:ZNF703 ; + skos:exactMatch UMLS:C1824002, + HGNC:25883, + HGNC_symbol:ZNF703 ; biolink:category biolink:Gene . OMIM:617047 a owl:Class ; rdfs:label "cardiomyopathy, familial hypertrophic, 26" ; IAO:0000142 PMID:25351925, PMID:26666891 ; - oboInOwl:hasDbXref UMLS:C4310748, - UMLS:C4310749 ; oboInOwl:hasExactSynonym "CMH26", "cardiomyopathy, familial hypertrophic, 26", "cardiomyopathy, familial restrictive, 5" ; rdfs:subClassOf OMIMPS:115210, OMIMPS:192600 ; + skos:exactMatch UMLS:C4310748, + UMLS:C4310749 ; biolink:category biolink:Disease . OMIM:617048 a owl:Class ; @@ -349999,23 +364913,24 @@ OMIM:617048 a owl:Class ; PMID:29700810 ; RO:0002525 CHR:9606chr5p13.2 ; RO:0003303 OMIM:617052 ; - oboInOwl:hasDbXref UMLS:C2239357 ; oboInOwl:hasExactSynonym "DNAJC21", "dnaj homology subfamily a, member 5", "dnaj/hsp40 homolog, subfamily c, member 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134218 ; - skos:exactMatch HGNC_symbol:DNAJC21 ; + skos:exactMatch UMLS:C2239357, + HGNC:27030, + HGNC_symbol:DNAJC21 ; biolink:category biolink:Gene . OMIM:617053 a owl:Class ; rdfs:label "mirage syndrome" ; IAO:0000142 PMID:27182967 ; - oboInOwl:hasDbXref UMLS:C4284088, - ORPHA:494433 ; oboInOwl:hasExactSynonym "MIRAGE", "mirage syndrome", "myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy" ; + skos:exactMatch UMLS:C4284088, + ORPHA:494433 ; biolink:category biolink:Disease . OMIM:617055 a owl:Class ; @@ -350025,12 +364940,12 @@ OMIM:617055 a owl:Class ; PMID:30142437, PMID:30300710, PMID:31497877 ; - oboInOwl:hasDbXref UMLS:C4310742, - ORPHA:157820 ; oboInOwl:hasExactSynonym "PERCHING", "crisponi/cold-induced sweating syndrome 3, formerly", "perching syndrome" ; rdfs:subClassOf OMIMPS:272430 ; + skos:exactMatch UMLS:C4310742, + ORPHA:157820 ; biolink:category biolink:Disease . OMIM:617057 a owl:Class ; @@ -350042,7 +364957,6 @@ OMIM:617057 a owl:Class ; PMID:29925953 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:618142 ; - oboInOwl:hasDbXref UMLS:C2829195 ; oboInOwl:hasExactSynonym "CTU2", "chromosome 16 open reading frame 84", "cytosolic thiouridylase, subunit 2", @@ -350050,20 +364964,23 @@ OMIM:617057 a owl:Class ; "upf0432" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348180 ; - skos:exactMatch HGNC_symbol:CTU2 ; + skos:exactMatch UMLS:C2829195, + HGNC:28005, + HGNC_symbol:CTU2 ; biolink:category biolink:Gene . OMIM:617058 a owl:Class ; rdfs:label "TSR3" ; IAO:0000142 PMID:27084949 ; - oboInOwl:hasDbXref UMLS:C1422463 ; oboInOwl:hasExactSynonym "TSR3", "acp transferase tsr3", "tsr3 ribosome maturation factor", "tsr3, aminocarboxypropyl transferase ribosome maturation factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115939 ; - skos:exactMatch HGNC_symbol:TSR3 ; + skos:exactMatch UMLS:C1422463, + HGNC:14175, + HGNC_symbol:TSR3 ; biolink:category biolink:Gene . OMIM:617059 a owl:Class ; @@ -350074,8 +364991,6 @@ OMIM:617059 a owl:Class ; PMID:24589776, PMID:27139419, PMID:27841881 ; - oboInOwl:hasDbXref UMLS:C2240188, - UMLS:C4479125 ; oboInOwl:hasExactSynonym "ZDBF2", "dbf-type zinc finger domain-containing protein 2", "kiaa1571", @@ -350083,13 +364998,15 @@ OMIM:617059 a owl:Class ; "zinc finger dbf domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57683 ; - skos:exactMatch HGNC_symbol:ZDBF2 ; + skos:exactMatch UMLS:C2240188, + UMLS:C4479125, + HGNC:29313, + HGNC_symbol:ZDBF2 ; biolink:category biolink:Gene . OMIM:617060 a owl:Class ; rdfs:label "LCTL" ; IAO:0000142 PMID:12084582 ; - oboInOwl:hasDbXref UMLS:C1825803 ; oboInOwl:hasExactSynonym "LCTL", "gamma-klotho", "klotho lactase-phlorizin hydrolase-related protein", @@ -350097,7 +365014,9 @@ OMIM:617060 a owl:Class ; "lactase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197021 ; - skos:exactMatch HGNC_symbol:LCTL ; + skos:exactMatch UMLS:C1825803, + HGNC:15583, + HGNC_symbol:LCTL ; biolink:category biolink:Gene . OMIM:617061 a owl:Class ; @@ -350107,12 +365026,12 @@ OMIM:617061 a owl:Class ; PMID:26721934, PMID:27418539, PMID:32109419 ; - oboInOwl:hasDbXref UMLS:C4310740, - ORPHA:476126 ; oboInOwl:hasExactSynonym "MRD44", "intellectual developmental disorder, autosomal dominant 44, with microcephaly", "mental retardation, autosomal dominant 44" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4310740, + ORPHA:476126 ; biolink:category biolink:Disease . OMIM:617064 a owl:Class ; @@ -350121,8 +365040,6 @@ OMIM:617064 a owl:Class ; PMID:26486472 ; RO:0002525 CHR:9606chr4p12 ; RO:0003303 OMIM:617065 ; - oboInOwl:hasDbXref UMLS:C1825432, - UMLS:C4310737 ; oboInOwl:hasExactSynonym "GUF1", "elongation factor 4, e. coli, homolog of", "gtp-binding elongation factor guf1", @@ -350130,27 +365047,31 @@ OMIM:617064 a owl:Class ; "guf1 homolog, gtpase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60558 ; - skos:exactMatch HGNC_symbol:GUF1 ; + skos:exactMatch UMLS:C1825432, + UMLS:C4310737, + HGNC:25799, + HGNC_symbol:GUF1 ; biolink:category biolink:Gene . OMIM:617066 a owl:Class ; rdfs:label "muscular dystrophy, congenital, davignon-chauveau iia" ; IAO:0000142 PMID:27008887 ; - oboInOwl:hasDbXref UMLS:C4310736 ; oboInOwl:hasExactSynonym "MDCDC", "muscular dystrophy, congenital, davignon-chauveau iia" ; + skos:exactMatch UMLS:C4310736 ; biolink:category biolink:Disease . OMIM:617067 a owl:Class ; rdfs:label "LYPD8" ; IAO:0000142 PMID:27027293, PMID:27098205 ; - oboInOwl:hasDbXref UMLS:C3544050 ; oboInOwl:hasExactSynonym "LYPD8", "ly6/plaur domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:646627 ; - skos:exactMatch HGNC_symbol:LYPD8 ; + skos:exactMatch UMLS:C3544050, + HGNC:44208, + HGNC_symbol:LYPD8 ; biolink:category biolink:Gene . OMIM:617068 a owl:Class ; @@ -350164,29 +365085,29 @@ OMIM:617068 a owl:Class ; PMID:26874653, PMID:28792652, PMID:31155282 ; - oboInOwl:hasDbXref UMLS:C4310735 ; oboInOwl:hasExactSynonym "NCPH1", "portal hypertension, noncirrhotic, 1" ; rdfs:subClassOf OMIMPS:617068 ; + skos:exactMatch UMLS:C4310735 ; biolink:category biolink:Disease . OMIM:617069 a owl:Class ; rdfs:label "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" ; IAO:0000142 PMID:21937588 ; - oboInOwl:hasDbXref UMLS:C4310734 ; oboInOwl:hasExactSynonym "PEOB3", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3", "progressive external ophthalmoplegia, autosomal recessive 3" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C4310734 ; biolink:category biolink:Disease . OMIM:617071 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:27034373 ; - oboInOwl:hasDbXref UMLS:C4310732 ; oboInOwl:hasExactSynonym "lncrna 13", "long noncoding RNA 13" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C4310732 ; biolink:category biolink:Gene . OMIM:617074 a owl:Class ; @@ -350199,12 +365120,13 @@ OMIM:617074 a owl:Class ; PMID:28195531, PMID:31625563, PMID:32848248 ; - oboInOwl:hasDbXref UMLS:C1425178 ; oboInOwl:hasExactSynonym "SMCR8", "smith-magenis syndrome chromosome region, candidate gene 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140775 ; - skos:exactMatch HGNC_symbol:SMCR8 ; + skos:exactMatch UMLS:C1425178, + HGNC:17921, + HGNC_symbol:SMCR8 ; biolink:category biolink:Gene . OMIM:617076 a owl:Class ; @@ -350217,47 +365139,49 @@ OMIM:617076 a owl:Class ; PMID:23912458, PMID:25767277, PMID:9056895 ; - oboInOwl:hasDbXref UMLS:C1422296 ; oboInOwl:hasExactSynonym "FKBPL", "downregulated by ionizing radiation 1", "fk506-binding protein-like", "waf1/cip1-stabilizing protein, 39-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63943 ; - skos:exactMatch HGNC_symbol:FKBPL ; + skos:exactMatch UMLS:C1422296, + HGNC:13949, + HGNC_symbol:FKBPL ; biolink:category biolink:Gene . OMIM:617077 a owl:Class ; rdfs:label "ZNF618" ; IAO:0000142 PMID:11853319, PMID:27129234 ; - oboInOwl:hasDbXref UMLS:C1538197 ; oboInOwl:hasExactSynonym "ZNF618", "kiaa1952", "neural precursor cell expressed, developmentally downregulated 10", "zinc finger protein 618" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114991 ; - skos:exactMatch HGNC_symbol:ZNF618 ; + skos:exactMatch UMLS:C1538197, + HGNC:29416, + HGNC_symbol:ZNF618 ; biolink:category biolink:Gene . OMIM:617078 a owl:Class ; rdfs:label "DEDD2" ; IAO:0000142 PMID:11741985, PMID:12527898 ; - oboInOwl:hasDbXref UMLS:C1428374 ; oboInOwl:hasExactSynonym "DEDD2", "death effector domain-containing protein 2", "fadd-like antiapoptotic molecule 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162989 ; - skos:exactMatch HGNC_symbol:DEDD2 ; + skos:exactMatch UMLS:C1428374, + HGNC:24450, + HGNC_symbol:DEDD2 ; biolink:category biolink:Gene . OMIM:617079 a owl:Class ; rdfs:label "LINC00673" ; IAO:0000142 PMID:27213290 ; - oboInOwl:hasDbXref UMLS:C3540280 ; oboInOwl:hasExactSynonym "LINC00673", "human islet long noncoding RNA 75", "lincrna 673", @@ -350266,7 +365190,9 @@ OMIM:617079 a owl:Class ; "sra-like noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100499467 ; - skos:exactMatch HGNC_symbol:LINC00673 ; + skos:exactMatch UMLS:C3540280, + HGNC:44354, + HGNC_symbol:LINC00673 ; biolink:category biolink:Gene . OMIM:617081 a owl:Class ; @@ -350279,23 +365205,24 @@ OMIM:617081 a owl:Class ; PMID:26785494, PMID:32132706, PMID:32132707 ; - oboInOwl:hasDbXref UMLS:C1538537 ; oboInOwl:hasExactSynonym "OMA1", "metalloprotease-related protein 1", "oma1 zinc metallopeptidase", "overlapping activity with m-aaa protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115209 ; - skos:exactMatch HGNC_symbol:OMA1 ; + skos:exactMatch UMLS:C1538537, + HGNC:29661, + HGNC_symbol:OMA1 ; biolink:category biolink:Gene . OMIM:617082 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iaa" ; IAO:0000142 PMID:25066056 ; - oboInOwl:hasDbXref UMLS:C4310727 ; oboInOwl:hasExactSynonym "CDG1AA", "congenital disorder of glycosylation, iia iaa" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C4310727 ; biolink:category biolink:Disease . OMIM:617083 a owl:Class ; @@ -350309,39 +365236,42 @@ OMIM:617083 a owl:Class ; PMID:8960501 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:617088 ; - oboInOwl:hasDbXref UMLS:C1825011 ; oboInOwl:hasExactSynonym "DYNC2LI1", "dynein 2, light intermediate chain", "dynein, cytoplasmic 2, light intermediate chain 1", "light intermediate chain 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51626 ; - skos:exactMatch HGNC_symbol:DYNC2LI1 ; + skos:exactMatch UMLS:C1825011, + HGNC:24595, + HGNC_symbol:DYNC2LI1 ; biolink:category biolink:Gene . OMIM:617084 a owl:Class ; rdfs:label "TMEM59" ; IAO:0000142 PMID:20427278, PMID:23376921 ; - oboInOwl:hasDbXref UMLS:C1823321 ; oboInOwl:hasExactSynonym "TMEM59", "dendritic cell factor 1", "liver membrane protein", "transmembrane protein 59" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9528 ; - skos:exactMatch HGNC_symbol:TMEM59 ; + skos:exactMatch UMLS:C1823321, + HGNC:1239, + HGNC_symbol:TMEM59 ; biolink:category biolink:Gene . OMIM:617085 a owl:Class ; rdfs:label "FIBIN" ; IAO:0000142 PMID:17196583 ; - oboInOwl:hasDbXref UMLS:C2681529 ; oboInOwl:hasExactSynonym "FIBIN", "fin bud initiation factor, zebrafish, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387758 ; - skos:exactMatch HGNC_symbol:FIBIN ; + skos:exactMatch UMLS:C2681529, + HGNC:33747, + HGNC_symbol:FIBIN ; biolink:category biolink:Gene . OMIM:617087 a owl:Class ; @@ -350350,10 +365280,10 @@ OMIM:617087 a owl:Class ; PMID:21715711, PMID:26114802, PMID:26955893 ; - oboInOwl:hasDbXref UMLS:C4310725 ; oboInOwl:hasExactSynonym "CMT2A2B", "charcot-marie-tooth disease, axonal, autosomal recessive, iia 2a2b" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4310725 ; biolink:category biolink:Disease . OMIM:617089 a owl:Class ; @@ -350365,14 +365295,15 @@ OMIM:617089 a owl:Class ; PMID:31250547 ; RO:0002525 CHR:9606chr3q13.2 ; RO:0003303 OMIM:618853 ; - oboInOwl:hasDbXref UMLS:C1540228, - UMLS:C5394289 ; oboInOwl:hasExactSynonym "NEPRO", "chromosome 3 open reading frame 17", "nucleolus and neural progenitor protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25871 ; - skos:exactMatch HGNC_symbol:NEPRO ; + skos:exactMatch UMLS:C1540228, + UMLS:C5394289, + HGNC:24496, + HGNC_symbol:NEPRO ; biolink:category biolink:Gene . OMIM:617094 a owl:Class ; @@ -350383,16 +365314,17 @@ OMIM:617094 a owl:Class ; PMID:31042281 ; RO:0002525 CHR:9606chr20q13.12 ; RO:0003303 OMIM:617102 ; - oboInOwl:hasDbXref UMLS:C1825567, - UMLS:C2986382, - UMLS:C4310846, - UMLS:C4310847 ; oboInOwl:hasExactSynonym "IFT52", "intraflagellar transport 52", "intraflagellar transport 52, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51098 ; - skos:exactMatch HGNC_symbol:IFT52 ; + skos:exactMatch UMLS:C1825567, + UMLS:C2986382, + UMLS:C4310846, + UMLS:C4310847, + HGNC:15901, + HGNC_symbol:IFT52 ; biolink:category biolink:Gene . OMIM:617095 a owl:Class ; @@ -350400,38 +365332,41 @@ OMIM:617095 a owl:Class ; IAO:0000142 PMID:27486780 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:617092 ; - oboInOwl:hasDbXref UMLS:C1823529 ; oboInOwl:hasExactSynonym "TTC25", "tetratricopeptide repeat domain-containing protein 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83538 ; - skos:exactMatch HGNC_symbol:ODAD4 ; + skos:exactMatch UMLS:C1823529, + HGNC:25280, + HGNC_symbol:ODAD4 ; biolink:category biolink:Gene . OMIM:617096 a owl:Class ; rdfs:label "TMEM59L" ; IAO:0000142 PMID:10527841, PMID:20427278 ; - oboInOwl:hasDbXref UMLS:C1421896 ; oboInOwl:hasExactSynonym "TMEM59L", "brain-specific membrane-anchored protein", "transmembrane protein 59-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25789 ; - skos:exactMatch HGNC_symbol:TMEM59L ; + skos:exactMatch UMLS:C1421896, + HGNC:13237, + HGNC_symbol:TMEM59L ; biolink:category biolink:Gene . OMIM:617097 a owl:Class ; rdfs:label "LINC01194" ; IAO:0000142 PMID:14871852 ; - oboInOwl:hasDbXref UMLS:C1710492 ; oboInOwl:hasExactSynonym "LINC01194", "lincrna 1194", "long intergenic noncoding RNA 1194", "tumor antigen gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:404663 ; - skos:exactMatch HGNC_symbol:LINC01194 ; + skos:exactMatch UMLS:C1710492, + HGNC:37171, + HGNC_symbol:LINC01194 ; biolink:category biolink:Gene . OMIM:617098 a owl:Class ; @@ -350439,26 +365374,28 @@ OMIM:617098 a owl:Class ; IAO:0000142 PMID:17881363, PMID:24797913, PMID:26212330 ; - oboInOwl:hasDbXref UMLS:C2239892 ; oboInOwl:hasExactSynonym "RNASEK", "ribonuclease k", "rnase k", "rnase kappa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440400 ; - skos:exactMatch HGNC_symbol:RNASEK ; + skos:exactMatch UMLS:C2239892, + HGNC:33911, + HGNC_symbol:RNASEK ; biolink:category biolink:Gene . OMIM:617103 a owl:Class ; rdfs:label "ZNF668" ; IAO:0000142 PMID:21852383, PMID:23777805 ; - oboInOwl:hasDbXref UMLS:C1538232 ; oboInOwl:hasExactSynonym "ZNF668", "zinc finger protein 668" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79759 ; - skos:exactMatch HGNC_symbol:ZNF668 ; + skos:exactMatch UMLS:C1538232, + HGNC:25821, + HGNC_symbol:ZNF668 ; biolink:category biolink:Gene . OMIM:617104 a owl:Class ; @@ -350466,40 +365403,42 @@ OMIM:617104 a owl:Class ; IAO:0000142 PMID:18753295, PMID:19757494, PMID:27313209 ; - oboInOwl:hasDbXref UMLS:C1428259 ; oboInOwl:hasExactSynonym "PIP4K2C", "phosphatidylinositol 4-phosphate 5-kinase, iia ii, gamma", "phosphatidylinositol 5-phosphate 4-kinase, iia ii, gamma", "pip4k2-gamma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79837 ; - skos:exactMatch HGNC_symbol:PIP4K2C ; + skos:exactMatch UMLS:C1428259, + HGNC:23786, + HGNC_symbol:PIP4K2C ; biolink:category biolink:Gene . OMIM:617106 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 42" ; IAO:0000142 PMID:23934111, PMID:27476654 ; - oboInOwl:hasDbXref UMLS:C4310716, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE42", "developmental and epileptic encephalopathy 42", "epileptic encephalopathy, early infantile, 42" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310716, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:617109 a owl:Class ; rdfs:label "CREBRF" ; IAO:0000142 PMID:18391022, PMID:23071095 ; - oboInOwl:hasDbXref UMLS:C3469921 ; oboInOwl:hasExactSynonym "CREBRF", "chromosome 5 open reading frame 41", "creb3 recruitment factor", "luman recruitment factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:153222 ; - skos:exactMatch HGNC_symbol:CREBRF ; + skos:exactMatch UMLS:C3469921, + HGNC:24050, + HGNC_symbol:CREBRF ; biolink:category biolink:Gene . OMIM:617110 a owl:Class ; @@ -350511,12 +365450,13 @@ OMIM:617110 a owl:Class ; PMID:27627988 ; RO:0002525 CHR:9606chr9q21.2 ; RO:0003303 OMIM:617236 ; - oboInOwl:hasDbXref UMLS:C1824716 ; oboInOwl:hasExactSynonym "CEP78", "centrosomal protein, 78-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84131 ; - skos:exactMatch HGNC_symbol:CEP78 ; + skos:exactMatch UMLS:C1824716, + HGNC:25740, + HGNC_symbol:CEP78 ; biolink:category biolink:Gene . OMIM:617112 a owl:Class ; @@ -350526,131 +365466,138 @@ OMIM:617112 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:619479 ; - oboInOwl:hasDbXref UMLS:C1825673 ; oboInOwl:hasExactSynonym "KIAA0753", "kiaa0753 gene", "moonraker", "ofd1- and fopnl-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9851 ; - skos:exactMatch HGNC_symbol:KIAA0753 ; + skos:exactMatch UMLS:C1825673, + HGNC:29110, + HGNC_symbol:KIAA0753 ; biolink:category biolink:Gene . OMIM:617113 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 43" ; IAO:0000142 PMID:23934111, PMID:27476654 ; - oboInOwl:hasDbXref UMLS:C4310712, - ORPHA:2382 ; oboInOwl:hasExactSynonym "DEE43", "developmental and epileptic encephalopathy 43", "epileptic encephalopathy, early infantile, 43" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310712, + ORPHA:2382 ; biolink:category biolink:Disease . OMIM:617117 a owl:Class ; rdfs:label "LINC00663" ; IAO:0000142 PMID:26743782 ; - oboInOwl:hasDbXref UMLS:C3540288 ; oboInOwl:hasExactSynonym "LINC00663", "lincrna 663", "long intergenic noncoding RNA 663" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284440 ; - skos:exactMatch HGNC_symbol:LINC00663 ; + skos:exactMatch UMLS:C3540288, + HGNC:28609, + HGNC_symbol:LINC00663 ; biolink:category biolink:Gene . OMIM:617119 a owl:Class ; rdfs:label "bardet-biedl syndrome 22" ; IAO:0000142 PMID:27486776 ; - oboInOwl:hasDbXref UMLS:C4310707 ; oboInOwl:hasExactSynonym "BBS22", "bardet-biedl syndrome 20, formerly", "bardet-biedl syndrome 22" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C4310707 ; biolink:category biolink:Disease . OMIM:617121 a owl:Class ; rdfs:label "joubert syndrome 28" ; IAO:0000142 PMID:24886560 ; - oboInOwl:hasDbXref UMLS:C4310705, - ORPHA:220493, - ORPHA:475 ; oboInOwl:hasExactSynonym "JBTS28", "joubert syndrome 28" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4310705, + ORPHA:220493, + ORPHA:475 ; biolink:category biolink:Disease . OMIM:617122 a owl:Class ; rdfs:label "C1QTNF9BAS1" ; IAO:0000142 PMID:15930275 ; - oboInOwl:hasDbXref UMLS:C3469661 ; oboInOwl:hasExactSynonym "C1QTNF9BAS1", "c1qtnf9b antisense RNA 1", "prostate collagen triple-helix protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:542767 ; - skos:exactMatch HGNC_symbol:PCOTH ; + skos:exactMatch UMLS:C3469661, + HGNC:39839, + HGNC_symbol:PCOTH ; biolink:category biolink:Gene . OMIM:617124 a owl:Class ; rdfs:label "PM20D1" ; IAO:0000142 PMID:27374330 ; - oboInOwl:hasDbXref UMLS:C2239827 ; oboInOwl:hasExactSynonym "PM20D1", "peptidase m20 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148811 ; - skos:exactMatch HGNC_symbol:PM20D1 ; + skos:exactMatch UMLS:C2239827, + HGNC:26518, + HGNC_symbol:PM20D1 ; biolink:category biolink:Gene . OMIM:617127 a owl:Class ; rdfs:label "orofaciodigital syndrome 15" ; IAO:0000142 PMID:26643951 ; - oboInOwl:hasDbXref UMLS:C4310701 ; oboInOwl:hasExactSynonym "OFD15", "ofds 15", "oral-facial-digital syndrome, iia 15", "orofaciodigital syndrome 15" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C4310701 ; biolink:category biolink:Disease . OMIM:617128 a owl:Class ; rdfs:label "INSYN1" ; IAO:0000142 PMID:27609886 ; - oboInOwl:hasDbXref UMLS:C2681289 ; oboInOwl:hasExactSynonym "INSYN1", "chromosome 15 open reading frame 59", "inhibitory synaptic factor 1", "inhibitory synaptic protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388135 ; - skos:exactMatch HGNC_symbol:INSYN1 ; + skos:exactMatch UMLS:C2681289, + HGNC:33753, + HGNC_symbol:INSYN1 ; biolink:category biolink:Gene . OMIM:617129 a owl:Class ; rdfs:label "FAM196A" ; IAO:0000142 PMID:27609886 ; - oboInOwl:hasDbXref UMLS:C2240296 ; oboInOwl:hasExactSynonym "FAM196A", "chromosome 10 open reading frame 141", "family with sequence similarity 196, member a", "inhibitory synaptic protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642938 ; - skos:exactMatch HGNC_symbol:INSYN2A ; + skos:exactMatch UMLS:C2240296, + HGNC:33859, + HGNC_symbol:INSYN2A ; biolink:category biolink:Gene . OMIM:617130 a owl:Class ; rdfs:label "MAJIN" ; IAO:0000142 PMID:26548954 ; - oboInOwl:hasDbXref UMLS:C2681265 ; oboInOwl:hasExactSynonym "MAJIN", "chromosome 11 open reading frame 85", "membrane-anchored junction protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283129 ; - skos:exactMatch HGNC_symbol:MAJIN ; + skos:exactMatch UMLS:C2681265, + HGNC:27441, + HGNC_symbol:MAJIN ; biolink:category biolink:Gene . OMIM:617131 a owl:Class ; @@ -350658,52 +365605,54 @@ OMIM:617131 a owl:Class ; IAO:0000142 PMID:26548954 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:619645 ; - oboInOwl:hasDbXref UMLS:C1824407 ; oboInOwl:hasExactSynonym "TERB2", "chromosome 15 open reading frame 43", "telomere repeat-binding bouquet formation protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145645 ; - skos:exactMatch HGNC_symbol:TERB2 ; + skos:exactMatch UMLS:C1824407, + HGNC:28520, + HGNC_symbol:TERB2 ; biolink:category biolink:Gene . OMIM:617133 a owl:Class ; rdfs:label "spinocerebellar ataxia, autosomal recessive 24" ; IAO:0000142 PMID:26872069 ; - oboInOwl:hasDbXref UMLS:C4310699 ; oboInOwl:hasExactSynonym "SCAR24", "spinocerebellar ataxia, autosomal recessive 24" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4310699 ; biolink:category biolink:Disease . OMIM:617134 a owl:Class ; rdfs:label "TMCO3" ; IAO:0000142 PMID:27484837 ; - oboInOwl:hasDbXref UMLS:C1823295 ; oboInOwl:hasExactSynonym "TMCO3", "chromosome 13 open reading frame 11", "transmembrane and coiled-coil domains protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55002 ; - skos:exactMatch HGNC_symbol:TMCO3 ; + skos:exactMatch UMLS:C1823295, + HGNC:20329, + HGNC_symbol:TMCO3 ; biolink:category biolink:Gene . OMIM:617135 a owl:Class ; rdfs:label "L3MBTL4" ; IAO:0000142 PMID:27480026 ; - oboInOwl:hasDbXref UMLS:C1537515 ; oboInOwl:hasExactSynonym "L3MBTL4", "l3mbt-like 4", "l3mbtl histone methyl-lysine-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91133 ; - skos:exactMatch HGNC_symbol:L3MBTL4 ; + skos:exactMatch UMLS:C1537515, + HGNC:26677, + HGNC_symbol:L3MBTL4 ; biolink:category biolink:Gene . OMIM:617136 a owl:Class ; rdfs:label "TFAP2AAS2" ; IAO:0000142 PMID:27605307 ; - oboInOwl:hasDbXref UMLS:C4319919 ; oboInOwl:hasExactSynonym "TFAP2AAS2", "heterogenously expressed from the intronic plus strand of the tfap2a locus RNA", "lncrna hipstr", @@ -350711,47 +365660,50 @@ OMIM:617136 a owl:Class ; "tfap2a antisense RNA 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:109729173 ; - skos:exactMatch HGNC_symbol:TFAP2A-AS2 ; + skos:exactMatch UMLS:C4319919, + HGNC:52289, + HGNC_symbol:TFAP2A-AS2 ; biolink:category biolink:Gene . OMIM:617138 a owl:Class ; rdfs:label "SKOR2" ; IAO:0000142 PMID:16200078, PMID:18522874 ; - oboInOwl:hasDbXref UMLS:C3146459 ; oboInOwl:hasExactSynonym "SKOR2", "corl2", "functional smad-suppressing element on chromosome 18", "ski family transcriptional corepressor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:652991 ; - skos:exactMatch HGNC_symbol:SKOR2 ; + skos:exactMatch UMLS:C3146459, + HGNC:32695, + HGNC_symbol:SKOR2 ; biolink:category biolink:Gene . OMIM:617139 a owl:Class ; rdfs:label "LGALS7B" ; IAO:0000142 PMID:7534301 ; - oboInOwl:hasDbXref UMLS:C2681642 ; oboInOwl:hasExactSynonym "LGALS7B", "lectin, galactoside-binding, soluble, 7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653499 ; - skos:exactMatch HGNC_symbol:LGALS7B ; + skos:exactMatch UMLS:C2681642, + HGNC:34447, + HGNC_symbol:LGALS7B ; biolink:category biolink:Gene . OMIM:617143 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 20, presynaptic" ; IAO:0000142 PMID:27569547 ; - oboInOwl:hasDbXref UMLS:C4310694 ; oboInOwl:hasExactSynonym "CMS20", "myasthenic syndrome, congenital, 20, presynaptic" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4310694 ; biolink:category biolink:Disease . OMIM:617144 a owl:Class ; rdfs:label "MIR4435-2HG" ; IAO:0000142 PMID:27525555 ; - oboInOwl:hasDbXref UMLS:C3810893 ; oboInOwl:hasExactSynonym "MIR4435-2HG", "lncrna morrbid", "long noncoding RNA morrbid", @@ -350761,39 +365713,43 @@ OMIM:617144 a owl:Class ; "myeloid RNA regulator of bim-induced death" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:541471 ; - skos:exactMatch HGNC_symbol:MIR4435-2HG ; + skos:exactMatch UMLS:C3810893, + HGNC:35163, + HGNC_symbol:MIR4435-2HG ; biolink:category biolink:Gene . OMIM:617145 a owl:Class ; rdfs:label "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" ; IAO:0000142 PMID:27545679 ; - oboInOwl:hasDbXref UMLS:C4310693 ; oboInOwl:hasExactSynonym "NADGP", "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" ; + skos:exactMatch UMLS:C4310693 ; biolink:category biolink:Disease . OMIM:617147 a owl:Class ; rdfs:label "CCDC14" ; IAO:0000142 PMID:24613305 ; - oboInOwl:hasDbXref UMLS:C1539072 ; oboInOwl:hasExactSynonym "CCDC14", "coiled-coil domain-containing protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64770 ; - skos:exactMatch HGNC_symbol:CCDC14 ; + skos:exactMatch UMLS:C1539072, + HGNC:25766, + HGNC_symbol:CCDC14 ; biolink:category biolink:Gene . OMIM:617148 a owl:Class ; rdfs:label "DEUP1" ; IAO:0000142 PMID:22610074, PMID:24613305 ; - oboInOwl:hasDbXref UMLS:C1824591 ; oboInOwl:hasExactSynonym "DEUP1", "coiled-coil domain-containing protein 67", "deuterosome assembly protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:159989 ; - skos:exactMatch HGNC_symbol:DEUP1 ; + skos:exactMatch UMLS:C1824591, + HGNC:26344, + HGNC_symbol:DEUP1 ; biolink:category biolink:Gene . OMIM:617149 a owl:Class ; @@ -350801,28 +365757,30 @@ OMIM:617149 a owl:Class ; IAO:0000142 PMID:20551181, PMID:24018379, PMID:26643951 ; - oboInOwl:hasDbXref UMLS:C1824418 ; oboInOwl:hasExactSynonym "FOPNL", "chromosome 16 open reading frame 63", "fgfr1op n-terminal domain-like protein", "fop-related protein, 20-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123811 ; - skos:exactMatch HGNC_symbol:CEP20 ; + skos:exactMatch UMLS:C1824418, + HGNC:26435, + HGNC_symbol:CEP20 ; biolink:category biolink:Gene . OMIM:617150 a owl:Class ; rdfs:label "ZDHHC3" ; IAO:0000142 PMID:12163046, PMID:27247265 ; - oboInOwl:hasDbXref UMLS:C1425535 ; oboInOwl:hasExactSynonym "ZDHHC3", "dhhc3", "golgi-specific dhhc zinc finger protein", "zinc finger dhhc domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51304 ; - skos:exactMatch HGNC_symbol:ZDHHC3 ; + skos:exactMatch UMLS:C1425535, + HGNC:18470, + HGNC_symbol:ZDHHC3 ; biolink:category biolink:Gene . OMIM:617151 a owl:Class ; @@ -350830,35 +365788,38 @@ OMIM:617151 a owl:Class ; IAO:0000142 PMID:14676822, PMID:17936463, PMID:24335392 ; - oboInOwl:hasDbXref UMLS:C2240055 ; oboInOwl:hasExactSynonym "SULT1C3", "sulfotransferase family 1c, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442038 ; - skos:exactMatch HGNC_symbol:SULT1C3 ; + skos:exactMatch UMLS:C2240055, + HGNC:33543, + HGNC_symbol:SULT1C3 ; biolink:category biolink:Gene . OMIM:617152 a owl:Class ; rdfs:label "SULT6B1" ; IAO:0000142 PMID:14676822 ; - oboInOwl:hasDbXref UMLS:C2240057 ; oboInOwl:hasExactSynonym "SULT6B1", "sulfotransferase family 6b, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391365 ; - skos:exactMatch HGNC_symbol:SULT6B1 ; + skos:exactMatch UMLS:C2240057, + HGNC:33433, + HGNC_symbol:SULT6B1 ; biolink:category biolink:Gene . OMIM:617154 a owl:Class ; rdfs:label "MRNIP" ; IAO:0000142 PMID:27568553 ; - oboInOwl:hasDbXref UMLS:C2681230 ; oboInOwl:hasExactSynonym "MRNIP", "chromosome 5 open reading frame 45", "mrn complex-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51149 ; - skos:exactMatch HGNC_symbol:MRNIP ; + skos:exactMatch UMLS:C2681230, + HGNC:30817, + HGNC_symbol:MRNIP ; biolink:category biolink:Gene . OMIM:617155 a owl:Class ; @@ -350866,25 +365827,26 @@ OMIM:617155 a owl:Class ; IAO:0000142 PMID:15489893, PMID:24509857, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1425715 ; oboInOwl:hasExactSynonym "ST18", "kiaa0535", "suppression of tumorigenicity 18", "zinc finger protein 387" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9705 ; - skos:exactMatch HGNC_symbol:ST18 ; + skos:exactMatch UMLS:C1425715, + HGNC:18695, + HGNC_symbol:ST18 ; biolink:category biolink:Gene . OMIM:617158 a owl:Class ; rdfs:label "myopathy, distal, with rimmed vacuoles" ; IAO:0000142 PMID:25114083, PMID:26208961 ; - oboInOwl:hasDbXref UMLS:C5399975, - ORPHA:602 ; oboInOwl:hasExactSynonym "DMRV", "multisystem proteinopathy 4", "myopathy, distal, with rimmed vacuoles" ; + skos:exactMatch UMLS:C5399975, + ORPHA:602 ; biolink:category biolink:Disease . OMIM:617160 a owl:Class ; @@ -350893,35 +365855,38 @@ OMIM:617160 a owl:Class ; PMID:12832703, PMID:18536929, PMID:23583380 ; - oboInOwl:hasDbXref UMLS:C1427076 ; oboInOwl:hasExactSynonym "PROM2", "prominin 2", "prominin-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150696 ; - skos:exactMatch HGNC_symbol:PROM2 ; + skos:exactMatch UMLS:C1427076, + HGNC:20685, + HGNC_symbol:PROM2 ; biolink:category biolink:Gene . OMIM:617161 a owl:Class ; rdfs:label "GSG1L" ; IAO:0000142 PMID:26932439 ; - oboInOwl:hasDbXref UMLS:C1825424 ; oboInOwl:hasExactSynonym "GSG1L", "gsg1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146395 ; - skos:exactMatch HGNC_symbol:GSG1L ; + skos:exactMatch UMLS:C1825424, + HGNC:28283, + HGNC_symbol:GSG1L ; biolink:category biolink:Gene . OMIM:617163 a owl:Class ; rdfs:label "RNF186" ; IAO:0000142 PMID:23896122 ; - oboInOwl:hasDbXref UMLS:C1538874 ; oboInOwl:hasExactSynonym "RNF186", "ring finger protein 186" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54546 ; - skos:exactMatch HGNC_symbol:RNF186 ; + skos:exactMatch UMLS:C1538874, + HGNC:25978, + HGNC_symbol:RNF186 ; biolink:category biolink:Gene . OMIM:617165 a owl:Class ; @@ -350929,20 +365894,20 @@ OMIM:617165 a owl:Class ; IAO:0000142 PMID:19951071, PMID:26402163, PMID:26438880 ; - oboInOwl:hasDbXref UMLS:C3470291 ; oboInOwl:hasExactSynonym "FAM213A", "chromosome 10 open reading frame 58", "family with sequence similarity 213, member a", "peroxiredoxin activated 1n mcsf-stimulated monocytes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84293 ; - skos:exactMatch HGNC_symbol:PRXL2A ; + skos:exactMatch UMLS:C3470291, + HGNC:28651, + HGNC_symbol:PRXL2A ; biolink:category biolink:Gene . OMIM:617167 a owl:Class ; rdfs:label "SLC35G1" ; IAO:0000142 PMID:22084111 ; - oboInOwl:hasDbXref UMLS:C3469826 ; oboInOwl:hasExactSynonym "SLC35G1", "chromosome 10 open reading frame 60", "partner of stim1", @@ -350950,7 +365915,9 @@ OMIM:617167 a owl:Class ; "transmembrane protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:159371 ; - skos:exactMatch HGNC_symbol:SLC35G1 ; + skos:exactMatch UMLS:C3469826, + HGNC:26607, + HGNC_symbol:SLC35G1 ; biolink:category biolink:Gene . OMIM:617170 a owl:Class ; @@ -350961,7 +365928,6 @@ OMIM:617170 a owl:Class ; PMID:28285769 ; RO:0002525 CHR:9606chr5q12.3 ; RO:0003303 OMIM:250410 ; - oboInOwl:hasDbXref UMLS:C1419897 ; oboInOwl:hasExactSynonym "CWC27", "cwc27 spliceosome-associated cyclophilin", "cwc27 spliceosome-associated protein, s. cerevisiae, homolog of", @@ -350969,7 +365935,9 @@ OMIM:617170 a owl:Class ; "serologically defined colon cancer antigen 10: sdccag10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10283 ; - skos:exactMatch HGNC_symbol:CWC27 ; + skos:exactMatch UMLS:C1419897, + HGNC:10664, + HGNC_symbol:CWC27 ; biolink:category biolink:Gene . OMIM:617171 a owl:Class ; @@ -350983,11 +365951,11 @@ OMIM:617171 a owl:Class ; PMID:30923367, PMID:31688097, PMID:31929336 ; - oboInOwl:hasDbXref UMLS:C4310683, - ORPHA:468620 ; oboInOwl:hasExactSynonym "NEDHELS", "dyskinesia, seizures, and intellectual developmental disorder", "neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures" ; + skos:exactMatch UMLS:C4310683, + ORPHA:468620 ; biolink:category biolink:Disease . OMIM:617172 a owl:Class ; @@ -350995,70 +365963,75 @@ OMIM:617172 a owl:Class ; IAO:0000142 PMID:21215271, PMID:24566470, PMID:25557012 ; - oboInOwl:hasDbXref UMLS:C2681554 ; oboInOwl:hasExactSynonym "GPX8", "glutathione peroxidase 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:493869 ; - skos:exactMatch HGNC_symbol:GPX8 ; + skos:exactMatch UMLS:C2681554, + HGNC:33100, + HGNC_symbol:GPX8 ; biolink:category biolink:Gene . OMIM:617173 a owl:Class ; rdfs:label "intellectual developmental disorder with cardiac arrhythmia" ; IAO:0000142 PMID:27523599 ; - oboInOwl:hasDbXref UMLS:C4310682 ; oboInOwl:hasExactSynonym "IDDCA", "intellectual developmental disorder with cardiac arrhythmia" ; + skos:exactMatch UMLS:C4310682 ; biolink:category biolink:Disease . OMIM:617176 a owl:Class ; rdfs:label "MIR4271" ; IAO:0000142 PMID:16381832, PMID:27624799 ; - oboInOwl:hasDbXref UMLS:C2829835 ; oboInOwl:hasExactSynonym "MIR4271", "micro RNA 4271", "mirna4271" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100422952 ; - skos:exactMatch HGNC_symbol:MIR4271 ; + skos:exactMatch UMLS:C2829835, + HGNC:38332, + HGNC_symbol:MIR4271 ; biolink:category biolink:Gene . OMIM:617177 a owl:Class ; rdfs:label "MYL10" ; IAO:0000142 PMID:1628631 ; - oboInOwl:hasDbXref UMLS:C2681851 ; oboInOwl:hasExactSynonym "MYL10", "myosin light chain 10", "precursor lymphocyte-specific regulatory light chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93408 ; - skos:exactMatch HGNC_symbol:MYL10 ; + skos:exactMatch UMLS:C2681851, + HGNC:29825, + HGNC_symbol:MYL10 ; biolink:category biolink:Gene . OMIM:617178 a owl:Class ; rdfs:label "RNF166" ; IAO:0000142 PMID:17990982, PMID:26456228 ; - oboInOwl:hasDbXref UMLS:C1538864 ; oboInOwl:hasExactSynonym "RNF166", "ring finger protein 166" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115992 ; - skos:exactMatch HGNC_symbol:RNF166 ; + skos:exactMatch UMLS:C1538864, + HGNC:28856, + HGNC_symbol:RNF166 ; biolink:category biolink:Gene . OMIM:617179 a owl:Class ; rdfs:label "PANDAR" ; IAO:0000142 PMID:21642992, PMID:27069137 ; - oboInOwl:hasDbXref UMLS:C3541854 ; oboInOwl:hasExactSynonym "PANDAR", "panda", "promoter of cdkn1a antisense DNA damage-activated RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101154753 ; - skos:exactMatch HGNC_symbol:PANDAR ; + skos:exactMatch UMLS:C3541854, + HGNC:44048, + HGNC_symbol:PANDAR ; biolink:category biolink:Gene . OMIM:617180 a owl:Class ; @@ -351067,39 +366040,40 @@ OMIM:617180 a owl:Class ; PMID:27738187, PMID:8068091, PMID:8418638 ; - oboInOwl:hasDbXref UMLS:C4310679 ; oboInOwl:hasExactSynonym "CHYTS", "chitayat syndrome" ; + skos:exactMatch UMLS:C4310679 ; biolink:category biolink:Disease . OMIM:617181 a owl:Class ; rdfs:label "TMC4" ; IAO:0000142 PMID:12812529, PMID:12906855 ; - oboInOwl:hasDbXref UMLS:C1427847 ; oboInOwl:hasExactSynonym "TMC4", "transmembrane channel-like protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147798 ; - skos:exactMatch HGNC_symbol:TMC4 ; + skos:exactMatch UMLS:C1427847, + HGNC:22998, + HGNC_symbol:TMC4 ; biolink:category biolink:Gene . OMIM:617183 a owl:Class ; rdfs:label "harel-yoon syndrome" ; IAO:0000142 PMID:27640307 ; - oboInOwl:hasDbXref UMLS:C4310677, - ORPHA:496790 ; oboInOwl:hasExactSynonym "HAYOS", "harel-yoon syndrome" ; + skos:exactMatch UMLS:C4310677, + ORPHA:496790 ; biolink:category biolink:Disease . OMIM:617184 a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant" ; IAO:0000142 PMID:27693233 ; - oboInOwl:hasDbXref UMLS:C4310676 ; oboInOwl:hasExactSynonym "MTDPS12A", "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C4310676 ; biolink:category biolink:Disease . OMIM:617185 a owl:Class ; @@ -351107,32 +366081,33 @@ OMIM:617185 a owl:Class ; IAO:0000142 PMID:17442852, PMID:25702163, PMID:26345859 ; - oboInOwl:hasDbXref UMLS:C1826477 ; oboInOwl:hasExactSynonym "NSUN7", "nol1/nop2/sun domain family, member 7", "nop2/sun RNA methyltransferase family, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79730 ; - skos:exactMatch HGNC_symbol:NSUN7 ; + skos:exactMatch UMLS:C1826477, + HGNC:25857, + HGNC_symbol:NSUN7 ; biolink:category biolink:Gene . OMIM:617189 a owl:Class ; rdfs:label "TMEM110" ; IAO:0000142 PMID:26322679, PMID:26644574 ; - oboInOwl:hasDbXref UMLS:C1823372 ; oboInOwl:hasExactSynonym "TMEM110", "stim-activating enhancer", "transmembrane protein 110" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375346 ; - skos:exactMatch HGNC_symbol:STIMATE ; + skos:exactMatch UMLS:C1823372, + HGNC:30526, + HGNC_symbol:STIMATE ; biolink:category biolink:Gene . OMIM:617191 a owl:Class ; rdfs:label "PICSAR" ; IAO:0000142 PMID:27049681 ; - oboInOwl:hasDbXref UMLS:C1426363 ; oboInOwl:hasExactSynonym "PICSAR", "lincrna picsar", "long intergenic noncoding RNA 162", @@ -351140,20 +366115,23 @@ OMIM:617191 a owl:Class ; "p38-inhibited cutaneous squamous cell carcinoma-associated long intergenic noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:378825 ; - skos:exactMatch HGNC_symbol:PICSAR ; + skos:exactMatch UMLS:C1426363, + HGNC:19725, + HGNC_symbol:PICSAR ; biolink:category biolink:Gene . OMIM:617192 a owl:Class ; rdfs:label "EEPD1" ; IAO:0000142 PMID:11214970, PMID:26684013 ; - oboInOwl:hasDbXref UMLS:C2239369 ; oboInOwl:hasExactSynonym "EEPD1", "endonuclease/exonuclease/phosphatase family domain-containing protein 1", "kiaa1706" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80820 ; - skos:exactMatch HGNC_symbol:EEPD1 ; + skos:exactMatch UMLS:C2239369, + HGNC:22223, + HGNC_symbol:EEPD1 ; biolink:category biolink:Gene . OMIM:617195 a owl:Class ; @@ -351161,62 +366139,67 @@ OMIM:617195 a owl:Class ; IAO:0000142 PMID:14718386, PMID:17519359, PMID:19410023 ; - oboInOwl:hasDbXref UMLS:C1427756 ; oboInOwl:hasExactSynonym "MUSTN1", "musculoskeletal embryonic nuclear protein 1", "musculoskeletal temporally activated novel gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389125 ; - skos:exactMatch HGNC_symbol:MUSTN1 ; + skos:exactMatch UMLS:C1427756, + HGNC:22144, + HGNC_symbol:MUSTN1 ; biolink:category biolink:Gene . OMIM:617196 a owl:Class ; rdfs:label "TMC3" ; IAO:0000142 PMID:12812529, PMID:12906855 ; - oboInOwl:hasDbXref UMLS:C1427845 ; oboInOwl:hasExactSynonym "TMC3", "transmembrane channel-like protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342125 ; - skos:exactMatch HGNC_symbol:TMC3 ; + skos:exactMatch UMLS:C1427845, + HGNC:22995, + HGNC_symbol:TMC3 ; biolink:category biolink:Gene . OMIM:617197 a owl:Class ; rdfs:label "TMC5" ; IAO:0000142 PMID:12812529, PMID:12906855 ; - oboInOwl:hasDbXref UMLS:C1427848 ; oboInOwl:hasExactSynonym "TMC5", "transmembrane channel-like protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79838 ; - skos:exactMatch HGNC_symbol:TMC5 ; + skos:exactMatch UMLS:C1427848, + HGNC:22999, + HGNC_symbol:TMC5 ; biolink:category biolink:Gene . OMIM:617198 a owl:Class ; rdfs:label "TMC7" ; IAO:0000142 PMID:12812529, PMID:12906855 ; - oboInOwl:hasDbXref UMLS:C1427849 ; oboInOwl:hasExactSynonym "TMC7", "transmembrane channel-like protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79905 ; - skos:exactMatch HGNC_symbol:TMC7 ; + skos:exactMatch UMLS:C1427849, + HGNC:23000, + HGNC_symbol:TMC7 ; biolink:category biolink:Gene . OMIM:617199 a owl:Class ; rdfs:label "NSUN6" ; IAO:0000142 PMID:23816522, PMID:26160102 ; - oboInOwl:hasDbXref UMLS:C1538493 ; oboInOwl:hasExactSynonym "NSUN6", "nol1/nop2/sun domain family, member 6", "nop2/sun RNA methyltransferase family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221078 ; - skos:exactMatch HGNC_symbol:NSUN6 ; + skos:exactMatch UMLS:C1538493, + HGNC:23529, + HGNC_symbol:NSUN6 ; biolink:category biolink:Gene . OMIM:617200 a owl:Class ; @@ -351224,60 +366207,65 @@ OMIM:617200 a owl:Class ; IAO:0000142 PMID:11814680, PMID:17442045, PMID:18490449 ; - oboInOwl:hasDbXref UMLS:C1427085 ; oboInOwl:hasExactSynonym "OPALIN", "htmp10", "oligodendrocytic myelin paranodal and inner loop protein", "transmembrane protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93377 ; - skos:exactMatch HGNC_symbol:OPALIN ; + skos:exactMatch UMLS:C1427085, + HGNC:20707, + HGNC_symbol:OPALIN ; biolink:category biolink:Gene . OMIM:617202 a owl:Class ; rdfs:label "FOXI2" ; IAO:0000142 PMID:16289364 ; - oboInOwl:hasDbXref UMLS:C2239460 ; oboInOwl:hasExactSynonym "FOXI2", "forkhead box i2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399823 ; - skos:exactMatch HGNC_symbol:FOXI2 ; + skos:exactMatch UMLS:C2239460, + HGNC:32448, + HGNC_symbol:FOXI2 ; biolink:category biolink:Gene . OMIM:617203 a owl:Class ; rdfs:label "TMEM87B" ; IAO:0000142 PMID:27148590 ; - oboInOwl:hasDbXref UMLS:C1823349 ; oboInOwl:hasExactSynonym "TMEM87B", "transmembrane protein 87b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84910 ; - skos:exactMatch HGNC_symbol:TMEM87B ; + skos:exactMatch UMLS:C1823349, + HGNC:25913, + HGNC_symbol:TMEM87B ; biolink:category biolink:Gene . OMIM:617204 a owl:Class ; rdfs:label "VMAC" ; IAO:0000142 PMID:14985129 ; - oboInOwl:hasDbXref UMLS:C2829041 ; oboInOwl:hasExactSynonym "VMAC", "vimentin-type intermediate filament-associated coiled-coil protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400673 ; - skos:exactMatch HGNC_symbol:VMAC ; + skos:exactMatch UMLS:C2829041, + HGNC:33803, + HGNC_symbol:VMAC ; biolink:category biolink:Gene . OMIM:617206 a owl:Class ; rdfs:label "NEURL3" ; IAO:0000142 PMID:12169584, PMID:15936721 ; - oboInOwl:hasDbXref UMLS:C2681898 ; oboInOwl:hasExactSynonym "NEURL3", "lung-inducible neuralized-related c3hc4 ring domain protein", "neuralized e3 ubiquitin protein ligase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93082 ; - skos:exactMatch HGNC_symbol:NEURL3 ; + skos:exactMatch UMLS:C2681898, + HGNC:25162, + HGNC_symbol:NEURL3 ; biolink:category biolink:Gene . OMIM:617207 a owl:Class ; @@ -351287,21 +366275,22 @@ OMIM:617207 a owl:Class ; PMID:17699660, PMID:2022963, PMID:27666369 ; - oboInOwl:hasDbXref UMLS:C4310667 ; oboInOwl:hasExactSynonym "PEAMO", "encephalopathy, progressive, with amyotrophy and optic atrophy" ; + skos:exactMatch UMLS:C4310667 ; biolink:category biolink:Disease . OMIM:617208 a owl:Class ; rdfs:label "MAMDC4" ; IAO:0000142 PMID:25956157, PMID:7829488 ; - oboInOwl:hasDbXref UMLS:C1825940 ; oboInOwl:hasExactSynonym "MAMDC4", "mam domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158056 ; - skos:exactMatch HGNC_symbol:MAMDC4 ; + skos:exactMatch UMLS:C1825940, + HGNC:24083, + HGNC_symbol:MAMDC4 ; biolink:category biolink:Gene . OMIM:617209 a owl:Class ; @@ -351312,8 +366301,6 @@ OMIM:617209 a owl:Class ; PMID:30283131 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:618835 ; - oboInOwl:hasDbXref UMLS:C1427248, - UMLS:C5394232 ; oboInOwl:hasExactSynonym "QRSL1", "glutaminyl-trna amidotransferase subunit qrsl1", "glutaminyl-trna synthase (glutamine-hydrolyzing)-like protein 1", @@ -351321,7 +366308,10 @@ OMIM:617209 a owl:Class ; "glutamyl-trna-gln amidotransferase, subunit a, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55278 ; - skos:exactMatch HGNC_symbol:QRSL1 ; + skos:exactMatch UMLS:C1427248, + UMLS:C5394232, + HGNC:21020, + HGNC_symbol:QRSL1 ; biolink:category biolink:Gene . OMIM:617210 a owl:Class ; @@ -351330,14 +366320,15 @@ OMIM:617210 a owl:Class ; PMID:30283131 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:618839 ; - oboInOwl:hasDbXref UMLS:C2239482, - UMLS:C5394237 ; oboInOwl:hasExactSynonym "GATC", "glutamyl-trna amidotransferase, subunit c", "glutamyl-trna-gln amidotransferase, subunit c, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283459 ; - skos:exactMatch HGNC_symbol:GATC ; + skos:exactMatch UMLS:C2239482, + UMLS:C5394237, + HGNC:25068, + HGNC_symbol:GATC ; biolink:category biolink:Gene . OMIM:617211 a owl:Class ; @@ -351348,12 +366339,13 @@ OMIM:617211 a owl:Class ; PMID:21423773, PMID:22735594, PMID:24794495 ; - oboInOwl:hasDbXref UMLS:C1824943 ; oboInOwl:hasExactSynonym "DMKN", "dermokine" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93099 ; - skos:exactMatch HGNC_symbol:DMKN ; + skos:exactMatch UMLS:C1824943, + HGNC:25063, + HGNC_symbol:DMKN ; biolink:category biolink:Gene . OMIM:617212 a owl:Class ; @@ -351361,37 +366353,40 @@ OMIM:617212 a owl:Class ; IAO:0000142 PMID:11054531, PMID:15234001, PMID:24794495 ; - oboInOwl:hasDbXref UMLS:C1424178 ; oboInOwl:hasExactSynonym "KRTDAP", "kdap", "keratinocyte differentiation-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388533 ; - skos:exactMatch HGNC_symbol:KRTDAP ; + skos:exactMatch UMLS:C1424178, + HGNC:16313, + HGNC_symbol:KRTDAP ; biolink:category biolink:Gene . OMIM:617215 a owl:Class ; rdfs:label "C17ORF49" ; IAO:0000142 PMID:27226492 ; - oboInOwl:hasDbXref UMLS:C1824441 ; oboInOwl:hasExactSynonym "C17ORF49", "bptf-associated protein, 18-kd", "chromosome 17 open reading frame 49" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124944 ; - skos:exactMatch HGNC_symbol:C17orf49 ; + skos:exactMatch UMLS:C1824441, + HGNC:28737, + HGNC_symbol:C17orf49 ; biolink:category biolink:Gene . OMIM:617216 a owl:Class ; rdfs:label "ZNF420" ; IAO:0000142 PMID:19377469 ; - oboInOwl:hasDbXref UMLS:C1427058 ; oboInOwl:hasExactSynonym "ZNF420", "atm- and p53-associated kznf protein", "zinc finger protein 420" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147923 ; - skos:exactMatch HGNC_symbol:ZNF420 ; + skos:exactMatch UMLS:C1427058, + HGNC:20649, + HGNC_symbol:ZNF420 ; biolink:category biolink:Gene . OMIM:617218 a owl:Class ; @@ -351401,13 +366396,14 @@ OMIM:617218 a owl:Class ; PMID:27773428 ; RO:0002525 CHR:9606chr12q21.32 ; RO:0003303 OMIM:617255 ; - oboInOwl:hasDbXref UMLS:C1823453 ; oboInOwl:hasExactSynonym "TMTC3", "smile", "transmembrane and tetratricopeptide repeat domains-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160418 ; - skos:exactMatch HGNC_symbol:TMTC3 ; + skos:exactMatch UMLS:C1823453, + HGNC:26899, + HGNC_symbol:TMTC3 ; biolink:category biolink:Gene . OMIM:617219 a owl:Class ; @@ -351416,8 +366412,8 @@ OMIM:617219 a owl:Class ; PMID:24243649, PMID:27668656 ; RO:0002525 CHR:9606chr19q13.11 ; - oboInOwl:hasDbXref UMLS:C4311046 ; oboInOwl:hasExactSynonym "chromosome 19q13.11 deletion syndrome, proximal" ; + skos:exactMatch UMLS:C4311046 ; biolink:category biolink:Disease . OMIM:617220 a owl:Class ; @@ -351425,13 +366421,14 @@ OMIM:617220 a owl:Class ; IAO:0000142 PMID:27745833 ; RO:0002525 CHR:9606chr12p12.1 ; RO:0003303 OMIM:617258 ; - oboInOwl:hasDbXref UMLS:C2239867 ; oboInOwl:hasExactSynonym "PYROXD1", "pndr domain-containing protein 1", "pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79912 ; - skos:exactMatch HGNC_symbol:PYROXD1 ; + skos:exactMatch UMLS:C2239867, + HGNC:26162, + HGNC_symbol:PYROXD1 ; biolink:category biolink:Gene . OMIM:617221 a owl:Class ; @@ -351440,39 +366437,40 @@ OMIM:617221 a owl:Class ; PMID:25648650 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:619614 ; - oboInOwl:hasDbXref UMLS:C1539669 ; oboInOwl:hasExactSynonym "HKDC1", "hexokinase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80201 ; - skos:exactMatch HGNC_symbol:HKDC1 ; + skos:exactMatch UMLS:C1539669, + HGNC:23302, + HGNC_symbol:HKDC1 ; biolink:category biolink:Gene . OMIM:617223 a owl:Class ; rdfs:label "sudden cardiac failure, alcohol-induced" ; IAO:0000142 PMID:27523597 ; - oboInOwl:hasDbXref UMLS:C4310663 ; oboInOwl:hasExactSynonym "SCFAI", "sudden cardiac failure, alcohol-induced" ; + skos:exactMatch UMLS:C4310663 ; biolink:category biolink:Disease . OMIM:617224 a owl:Class ; rdfs:label "GAS2L3" ; IAO:0000142 PMID:21561867, PMID:24571573 ; - oboInOwl:hasDbXref UMLS:C1539550 ; oboInOwl:hasExactSynonym "GAS2L3", "gas2-like 3", "growth arrest-specific 2-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283431 ; - skos:exactMatch HGNC_symbol:GAS2L3 ; + skos:exactMatch UMLS:C1539550, + HGNC:27475, + HGNC_symbol:GAS2L3 ; biolink:category biolink:Gene . OMIM:617226 a owl:Class ; rdfs:label "MAPK1IP1L" ; IAO:0000142 PMID:12011110 ; - oboInOwl:hasDbXref UMLS:C2239669 ; oboInOwl:hasExactSynonym "MAPK1IP1L", "mapk-interacting and spindle-stabilizing protein, mouse, homolog of", "mapk1ip1, mouse, homolog of", @@ -351481,43 +366479,48 @@ OMIM:617226 a owl:Class ; "mitogen-activated protein kinase 1-interacting protein 1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93487 ; - skos:exactMatch HGNC_symbol:MAPK1IP1L ; + skos:exactMatch UMLS:C2239669, + HGNC:19840, + HGNC_symbol:MAPK1IP1L ; biolink:category biolink:Gene . OMIM:617227 a owl:Class ; rdfs:label "ATAD3C" ; IAO:0000142 PMID:20332122 ; - oboInOwl:hasDbXref UMLS:C1825096 ; oboInOwl:hasExactSynonym "ATAD3C", "atpase family, aaa domain-containing, member 3c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219293 ; - skos:exactMatch HGNC_symbol:ATAD3C ; + skos:exactMatch UMLS:C1825096, + HGNC:32151, + HGNC_symbol:ATAD3C ; biolink:category biolink:Gene . OMIM:617229 a owl:Class ; rdfs:label "FAM53A" ; IAO:0000142 PMID:11984880 ; - oboInOwl:hasDbXref UMLS:C1825114 ; oboInOwl:hasExactSynonym "FAM53A", "dorsal neural tube nuclear protein", "family with sequence similarity 53, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152877 ; - skos:exactMatch HGNC_symbol:FAM53A ; + skos:exactMatch UMLS:C1825114, + HGNC:31860, + HGNC_symbol:FAM53A ; biolink:category biolink:Gene . OMIM:617230 a owl:Class ; rdfs:label "ZFP1" ; IAO:0000142 PMID:2574853 ; - oboInOwl:hasDbXref UMLS:C1428037 ; oboInOwl:hasExactSynonym "ZFP1", "zfp1 zinc finger protein", "zinc finger protein 1, mouse, homolog of", "zinc finger protein 475" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162239 ; - skos:exactMatch HGNC_symbol:ZFP1 ; + skos:exactMatch UMLS:C1428037, + HGNC:23328, + HGNC_symbol:ZFP1 ; biolink:category biolink:Gene . OMIM:617231 a owl:Class ; @@ -351525,34 +366528,36 @@ OMIM:617231 a owl:Class ; IAO:0000142 PMID:12801912, PMID:18268499, PMID:29562234 ; - oboInOwl:hasDbXref UMLS:C2829632 ; oboInOwl:hasExactSynonym "LHPP", "phospholysine phosphohistidine inorganic pyrophosphate phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64077 ; - skos:exactMatch HGNC_symbol:LHPP ; + skos:exactMatch UMLS:C2829632, + HGNC:30042, + HGNC_symbol:LHPP ; biolink:category biolink:Gene . OMIM:617232 a owl:Class ; rdfs:label "muscular dystrophy, limb-girdle, autosomal recessive 21" ; IAO:0000142 PMID:27807076, PMID:30055862 ; - oboInOwl:hasDbXref UMLS:C4310660 ; oboInOwl:hasExactSynonym "LGMDR21", "muscular dystrophy, limb-girdle, iia 2z", "muscular dystrophy, limb-girdle, autosomal recessive 21" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C4310660 ; biolink:category biolink:Disease . OMIM:617233 a owl:Class ; rdfs:label "WDR70" ; IAO:0000142 PMID:27098497 ; - oboInOwl:hasDbXref UMLS:C1823834 ; oboInOwl:hasExactSynonym "WDR70", "wd repeat-containing protein 70" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55100 ; - skos:exactMatch HGNC_symbol:WDR70 ; + skos:exactMatch UMLS:C1823834, + HGNC:25495, + HGNC_symbol:WDR70 ; biolink:category biolink:Gene . OMIM:617235 a owl:Class ; @@ -351560,21 +366565,21 @@ OMIM:617235 a owl:Class ; IAO:0000142 PMID:24215330, PMID:27414745, PMID:27463701 ; - oboInOwl:hasDbXref UMLS:C4310658 ; oboInOwl:hasExactSynonym "NEIMY", "myoclonus, intractable, neonatal" ; + skos:exactMatch UMLS:C4310658 ; biolink:category biolink:Disease . OMIM:617237 a owl:Class ; rdfs:label "immunodeficiency 49" ; IAO:0000142 PMID:27959755, PMID:29985992 ; - oboInOwl:hasDbXref UMLS:C4310656 ; oboInOwl:hasExactSynonym "IMD49", "immunodeficiency 49", "scid, t cell-negative, B cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities", "severe combined immunodeficiency, t cell-negative, B cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4310656 ; biolink:category biolink:Disease . OMIM:617240 a owl:Class ; @@ -351582,14 +366587,15 @@ OMIM:617240 a owl:Class ; IAO:0000142 PMID:18171985, PMID:19348682, PMID:27783597 ; - oboInOwl:hasDbXref UMLS:C3811035 ; oboInOwl:hasExactSynonym "HAND2AS1", "differentially expressed 1n neuroblastoma", "hand2 antisense RNA 1, noncoding", "upperhand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79804 ; - skos:exactMatch HGNC_symbol:HAND2-AS1 ; + skos:exactMatch UMLS:C3811035, + HGNC:48872, + HGNC_symbol:HAND2-AS1 ; biolink:category biolink:Gene . OMIM:617242 a owl:Class ; @@ -351599,8 +366605,6 @@ OMIM:617242 a owl:Class ; PMID:30790670 ; RO:0002525 CHR:9606chr4q13.1 ; RO:0003303 OMIM:614021 ; - oboInOwl:hasDbXref UMLS:C2828772, - UMLS:C3151463 ; oboInOwl:hasExactSynonym "TECRL", "gpsn2-like", "steroid 5-alpha-reductase 2-like 2", @@ -351609,18 +366613,21 @@ OMIM:617242 a owl:Class ; "trans-2,3-enoyl-coa reductase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253017 ; - skos:exactMatch HGNC_symbol:TECRL ; + skos:exactMatch UMLS:C2828772, + UMLS:C3151463, + HGNC:27365, + HGNC_symbol:TECRL ; biolink:category biolink:Gene . OMIM:617244 a owl:Class ; rdfs:label "fanconi anemia, complementation group r" ; IAO:0000142 PMID:26253028, PMID:26681308 ; - oboInOwl:hasDbXref UMLS:C4284093, - ORPHA:84 ; oboInOwl:hasExactSynonym "FANCR", "fanconi anemia, complementation group r" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C4284093, + ORPHA:84 ; biolink:category biolink:Disease . OMIM:617245 a owl:Class ; @@ -351631,14 +366638,15 @@ OMIM:617245 a owl:Class ; PMID:27389779 ; RO:0002525 CHR:9606chr2q32.3 ; RO:0003303 OMIM:617268 ; - oboInOwl:hasDbXref UMLS:C1539660 ; oboInOwl:hasExactSynonym "HECW2", "hect, c2, and ww domains-containing e3 ubiquitin-protein ligase 2", "kiaa1301", "nedd4-like e3 ubiquitin-protein ligase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57520 ; - skos:exactMatch HGNC_symbol:HECW2 ; + skos:exactMatch UMLS:C1539660, + HGNC:29853, + HGNC_symbol:HECW2 ; biolink:category biolink:Gene . OMIM:617246 a owl:Class ; @@ -351648,8 +366656,6 @@ OMIM:617246 a owl:Class ; PMID:25105364 ; RO:0002525 CHR:9606chr8q24.13 ; RO:0003303 OMIM:617253 ; - oboInOwl:hasDbXref UMLS:C1826473, - UMLS:C4310647 ; oboInOwl:hasExactSynonym "NSMCE2", "mms21, s. cerevisiae, homolog of", "non-smc element 2, s. cerevisiae, homolog of", @@ -351658,7 +366664,10 @@ OMIM:617246 a owl:Class ; "smc5/smc6 complex sumo ligase nsmce2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286053 ; - skos:exactMatch HGNC_symbol:NSMCE2 ; + skos:exactMatch UMLS:C1826473, + UMLS:C4310647, + HGNC:26513, + HGNC_symbol:NSMCE2 ; biolink:category biolink:Gene . OMIM:617247 a owl:Class ; @@ -351666,32 +366675,33 @@ OMIM:617247 a owl:Class ; IAO:0000142 PMID:11118202, PMID:22232082, PMID:27208205 ; - oboInOwl:hasDbXref UMLS:C4310651 ; oboInOwl:hasExactSynonym "FANCU", "fanconi anemia, complementation group u" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C4310651 ; biolink:category biolink:Disease . OMIM:617248 a owl:Class ; rdfs:label "3-methylglutaconic aciduria, iia 8" ; IAO:0000142 PMID:27208207, PMID:27696117 ; - oboInOwl:hasDbXref UMLS:C4310650 ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria, iia 8", "MGCA8" ; rdfs:subClassOf OMIMPS:250950 ; + skos:exactMatch UMLS:C4310650 ; biolink:category biolink:Disease . OMIM:617249 a owl:Class ; rdfs:label "FAM122A" ; IAO:0000142 PMID:27588481 ; - oboInOwl:hasDbXref UMLS:C1825259 ; oboInOwl:hasExactSynonym "FAM122A", "chromosome 9 open reading frame 42", "family with sequence similarity 122, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116224 ; - skos:exactMatch HGNC_symbol:PABIR1 ; + skos:exactMatch UMLS:C1825259, + HGNC:23490, + HGNC_symbol:PABIR1 ; biolink:category biolink:Gene . OMIM:617250 a owl:Class ; @@ -351699,7 +366709,6 @@ OMIM:617250 a owl:Class ; IAO:0000142 PMID:12163476, PMID:14734538, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1825060 ; oboInOwl:hasExactSynonym "ERC2", "cast1", "caz-associated structural protein", @@ -351708,13 +366717,14 @@ OMIM:617250 a owl:Class ; "kiaa0378" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26059 ; - skos:exactMatch HGNC_symbol:ERC2 ; + skos:exactMatch UMLS:C1825060, + HGNC:31922, + HGNC_symbol:ERC2 ; biolink:category biolink:Gene . OMIM:617254 a owl:Class ; rdfs:label "LMNTD1" ; IAO:0000142 PMID:15688036 ; - oboInOwl:hasDbXref UMLS:C1825564 ; oboInOwl:hasExactSynonym "LMNTD1", "intermediate filament tail domain-containing protein 1", "lamin a-related sequence 1", @@ -351722,32 +366732,36 @@ OMIM:617254 a owl:Class ; "pas1 candidate 1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160492 ; - skos:exactMatch HGNC_symbol:LMNTD1 ; + skos:exactMatch UMLS:C1825564, + HGNC:26683, + HGNC_symbol:LMNTD1 ; biolink:category biolink:Gene . OMIM:617256 a owl:Class ; rdfs:label "SLC7A13" ; IAO:0000142 PMID:11907033, PMID:11943479 ; - oboInOwl:hasDbXref UMLS:C1427909 ; oboInOwl:hasExactSynonym "SLC7A13", "sodium-independent aspartate/glutamate transporter 1", "solute carrier family 7, member 13", "x amino acid transporter 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157724 ; - skos:exactMatch HGNC_symbol:SLC7A13 ; + skos:exactMatch UMLS:C1427909, + HGNC:23092, + HGNC_symbol:SLC7A13 ; biolink:category biolink:Gene . OMIM:617257 a owl:Class ; rdfs:label "SPATA46" ; IAO:0000142 PMID:27488028 ; - oboInOwl:hasDbXref UMLS:C4310615 ; oboInOwl:hasExactSynonym "SPATA46", "spermatogenesis-associated protein 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284680 ; - skos:exactMatch HGNC_symbol:SPATA46 ; + skos:exactMatch UMLS:C4310615, + HGNC:27648, + HGNC_symbol:SPATA46 ; biolink:category biolink:Gene . OMIM:617259 a owl:Class ; @@ -351756,7 +366770,6 @@ OMIM:617259 a owl:Class ; PMID:27626385, PMID:8195203, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1823635 ; oboInOwl:hasExactSynonym "DCAF1", "ddb1- and cul4-associated factor 1", "kiaa0800", @@ -351764,39 +366777,42 @@ OMIM:617259 a owl:Class ; "vpr-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9730 ; - skos:exactMatch HGNC_symbol:DCAF1 ; + skos:exactMatch UMLS:C1823635, + HGNC:30911, + HGNC_symbol:DCAF1 ; biolink:category biolink:Gene . OMIM:617261 a owl:Class ; rdfs:label "TMEM261" ; IAO:0000142 PMID:27626371, PMID:30033366 ; - oboInOwl:hasDbXref UMLS:C1538351 ; oboInOwl:hasExactSynonym "TMEM261", "chromosome 9 open reading frame 123", "distal membrane arm assembly component 1", "transmembrane protein 261" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90871 ; - skos:exactMatch HGNC_symbol:DMAC1 ; + skos:exactMatch UMLS:C1538351, + HGNC:30536, + HGNC_symbol:DMAC1 ; biolink:category biolink:Gene . OMIM:617262 a owl:Class ; rdfs:label "ATP5SL" ; IAO:0000142 PMID:27626371 ; - oboInOwl:hasDbXref UMLS:C2239957 ; oboInOwl:hasExactSynonym "ATP5SL", "atp5s-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55101 ; - skos:exactMatch HGNC_symbol:DMAC2 ; + skos:exactMatch UMLS:C2239957, + HGNC:25496, + HGNC_symbol:DMAC2 ; biolink:category biolink:Gene . OMIM:617263 a owl:Class ; rdfs:label "NSMCE1" ; IAO:0000142 PMID:11927594, PMID:18086888 ; - oboInOwl:hasDbXref UMLS:C1538488 ; oboInOwl:hasExactSynonym "NSMCE1", "non-smc element 1, s. cerevisiae, homolog of", "nse1", @@ -351804,33 +366820,37 @@ OMIM:617263 a owl:Class ; "smc5-smc6 complex component nse1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197370 ; - skos:exactMatch HGNC_symbol:NSMCE1 ; + skos:exactMatch UMLS:C1538488, + HGNC:29897, + HGNC_symbol:NSMCE1 ; biolink:category biolink:Gene . OMIM:617264 a owl:Class ; rdfs:label "SCAF1" ; IAO:0000142 PMID:11461075, PMID:15992770 ; - oboInOwl:hasDbXref UMLS:C2239916 ; oboInOwl:hasExactSynonym "SCAF1", "serine- and arginine-rich pre-mrna splicing factor sra1", "sr-related c-terminal domain-associated factor 1", "sr-related ctd-associated factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58506 ; - skos:exactMatch HGNC_symbol:SCAF1 ; + skos:exactMatch UMLS:C2239916, + HGNC:30403, + HGNC_symbol:SCAF1 ; biolink:category biolink:Gene . OMIM:617265 a owl:Class ; rdfs:label "KCTD9" ; IAO:0000142 PMID:23376586 ; - oboInOwl:hasDbXref UMLS:C1427768 ; oboInOwl:hasExactSynonym "KCTD9", "btb/poz domain-containing protein 27", "potassium channel tetramerization domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54793 ; - skos:exactMatch HGNC_symbol:KCTD9 ; + skos:exactMatch UMLS:C1427768, + HGNC:22401, + HGNC_symbol:KCTD9 ; biolink:category biolink:Gene . OMIM:617266 a owl:Class ; @@ -351840,45 +366860,48 @@ OMIM:617266 a owl:Class ; PMID:30982135 ; RO:0002525 CHR:9606chr5q15 ; RO:0003303 OMIM:618498 ; - oboInOwl:hasDbXref UMLS:C1824221 ; oboInOwl:hasExactSynonym "KIAA0825", "kiaa0825 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285600 ; - skos:exactMatch HGNC_symbol:KIAA0825 ; + skos:exactMatch UMLS:C1824221, + HGNC:28532, + HGNC_symbol:KIAA0825 ; biolink:category biolink:Gene . OMIM:617267 a owl:Class ; rdfs:label "MAIP1" ; IAO:0000142 PMID:27642048 ; - oboInOwl:hasDbXref UMLS:C1824112 ; oboInOwl:hasExactSynonym "MAIP1", "chromosome 2 open reading fame 47", "matrix aaa peptidase-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79568 ; - skos:exactMatch HGNC_symbol:MAIP1 ; + skos:exactMatch UMLS:C1824112, + HGNC:26198, + HGNC_symbol:MAIP1 ; biolink:category biolink:Gene . OMIM:617269 a owl:Class ; rdfs:label "SOCS2AS1" ; IAO:0000142 PMID:27342777 ; - oboInOwl:hasDbXref UMLS:C4310642 ; oboInOwl:hasExactSynonym "SOCS2AS1", "lncrna socs2as1", "long noncoding RNA socs2as1", "socs2 antisense RNA 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144481 ; - skos:exactMatch HGNC_symbol:SOCS2-AS1 ; + skos:exactMatch UMLS:C4310642, + HGNC:27054, + HGNC_symbol:SOCS2-AS1 ; biolink:category biolink:Gene . OMIM:617272 a owl:Class ; rdfs:label "glaucoma 3, primary congenital, e" ; IAO:0000142 PMID:27270174 ; - oboInOwl:hasDbXref UMLS:C4310639 ; oboInOwl:hasExactSynonym "GLC3E", "glaucoma 3, primary congenital, e" ; + skos:exactMatch UMLS:C4310639 ; biolink:category biolink:Disease . OMIM:617273 a owl:Class ; @@ -351888,24 +366911,26 @@ OMIM:617273 a owl:Class ; PMID:30395363 ; RO:0002525 CHR:9606chr8q22.1 ; RO:0003303 OMIM:618219 ; - oboInOwl:hasDbXref UMLS:C1825209 ; oboInOwl:hasExactSynonym "FAM92A", "fam92a1", "family with sequence similarity 92, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:137392 ; - skos:exactMatch HGNC_symbol:CIBAR1 ; + skos:exactMatch UMLS:C1825209, + HGNC:30452, + HGNC_symbol:CIBAR1 ; biolink:category biolink:Gene . OMIM:617274 a owl:Class ; rdfs:label "FAM92B" ; IAO:0000142 PMID:27528616 ; - oboInOwl:hasDbXref UMLS:C1825212 ; oboInOwl:hasExactSynonym "FAM92B", "family with sequence similarity 92, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339145 ; - skos:exactMatch HGNC_symbol:CIBAR2 ; + skos:exactMatch UMLS:C1825212, + HGNC:24781, + HGNC_symbol:CIBAR2 ; biolink:category biolink:Gene . OMIM:617277 a owl:Class ; @@ -351913,14 +366938,15 @@ OMIM:617277 a owl:Class ; IAO:0000142 PMID:12693554 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:619712 ; - oboInOwl:hasDbXref UMLS:C1824953 ; oboInOwl:hasExactSynonym "DNHD1", "coiled-coil domain-containing protein 35", "dynein heavy chain domain 1", "flj00251" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144132 ; - skos:exactMatch HGNC_symbol:DNHD1 ; + skos:exactMatch UMLS:C1824953, + HGNC:26532, + HGNC_symbol:DNHD1 ; biolink:category biolink:Gene . OMIM:617278 a owl:Class ; @@ -351932,27 +366958,29 @@ OMIM:617278 a owl:Class ; PMID:27866705 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:617281 ; - oboInOwl:hasDbXref UMLS:C1426178, - UMLS:C4310635 ; oboInOwl:hasExactSynonym "DENND5A", "denn domain-containing protein 5a", "kiaa1091", "rab6-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23258 ; - skos:exactMatch HGNC_symbol:DENND5A ; + skos:exactMatch UMLS:C1426178, + UMLS:C4310635, + HGNC:19344, + HGNC_symbol:DENND5A ; biolink:category biolink:Gene . OMIM:617279 a owl:Class ; rdfs:label "DENND5B" ; IAO:0000142 PMID:20937701 ; - oboInOwl:hasDbXref UMLS:C2681407 ; oboInOwl:hasExactSynonym "DENND5B", "denn domain-containing protein 5b", "rab6ip-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160518 ; - skos:exactMatch HGNC_symbol:DENND5B ; + skos:exactMatch UMLS:C2681407, + HGNC:28338, + HGNC_symbol:DENND5B ; biolink:category biolink:Gene . OMIM:617283 a owl:Class ; @@ -351964,7 +366992,6 @@ OMIM:617283 a owl:Class ; PMID:29799838, PMID:31949099, PMID:32778823 ; - oboInOwl:hasDbXref UMLS:C1823897 ; oboInOwl:hasExactSynonym "YTHDC1", "kiaa1966", "yt521", @@ -351972,7 +366999,9 @@ OMIM:617283 a owl:Class ; "yth domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91746 ; - skos:exactMatch HGNC_symbol:YTHDC1 ; + skos:exactMatch UMLS:C1823897, + HGNC:30626, + HGNC_symbol:YTHDC1 ; biolink:category biolink:Gene . OMIM:617285 a owl:Class ; @@ -351980,34 +367009,35 @@ OMIM:617285 a owl:Class ; IAO:0000142 PMID:18987332, PMID:23621913, PMID:27608812 ; - oboInOwl:hasDbXref UMLS:C1825515 ; oboInOwl:hasExactSynonym "HMGB4", "high mobility group box 4", "high mobility group protein b4", "hmg2-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127540 ; - skos:exactMatch HGNC_symbol:HMGB4 ; + skos:exactMatch UMLS:C1825515, + HGNC:24954, + HGNC_symbol:HMGB4 ; biolink:category biolink:Gene . OMIM:617286 a owl:Class ; rdfs:label "PANCR" ; IAO:0000142 PMID:26783232 ; - oboInOwl:hasDbXref UMLS:C4085055 ; oboInOwl:hasExactSynonym "PANCR", "lncrna pancr", "long noncoding RNA pancr", "pitx2 adjacent noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:110231149 ; - skos:exactMatch HGNC_symbol:PANCR ; + skos:exactMatch UMLS:C4085055, + HGNC:52282, + HGNC_symbol:PANCR ; biolink:category biolink:Gene . OMIM:617287 a owl:Class ; rdfs:label "PLPPR5" ; IAO:0000142 PMID:16010976, PMID:20032306 ; - oboInOwl:hasDbXref UMLS:C4083552 ; oboInOwl:hasExactSynonym "PLPPR5", "lipid phosphate phosphatase-related 5", "phosphatidic acid phosphatase iia 2", @@ -352016,7 +367046,9 @@ OMIM:617287 a owl:Class ; "plasticity-related gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163404 ; - skos:exactMatch HGNC_symbol:PLPPR5 ; + skos:exactMatch UMLS:C4083552, + HGNC:31703, + HGNC_symbol:PLPPR5 ; biolink:category biolink:Gene . OMIM:617288 a owl:Class ; @@ -352025,34 +367057,35 @@ OMIM:617288 a owl:Class ; PMID:12970870, PMID:18162463, PMID:21042721 ; - oboInOwl:hasDbXref UMLS:C1823110 ; oboInOwl:hasExactSynonym "SPINK7", "esophagus cancer-related gene 2", "serine peptidase inhibitor, kazal-type, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84651 ; - skos:exactMatch HGNC_symbol:SPINK7 ; + skos:exactMatch UMLS:C1823110, + HGNC:24643, + HGNC_symbol:SPINK7 ; biolink:category biolink:Gene . OMIM:617289 a owl:Class ; rdfs:label "FAM53B" ; IAO:0000142 PMID:16611694, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1428758 ; oboInOwl:hasExactSynonym "FAM53B", "family with sequence similarity 53, member B", "kiaa0140", "simplet, medaka, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9679 ; - skos:exactMatch HGNC_symbol:FAM53B ; + skos:exactMatch UMLS:C1428758, + HGNC:28968, + HGNC_symbol:FAM53B ; biolink:category biolink:Gene . OMIM:617291 a owl:Class ; rdfs:label "TMEM150B" ; IAO:0000142 PMID:25929859, PMID:27321926 ; - oboInOwl:hasDbXref UMLS:C2680488 ; oboInOwl:hasExactSynonym "TMEM150B", "damage-regulated autophagy modulator 3", "tentonin 2", @@ -352060,101 +367093,109 @@ OMIM:617291 a owl:Class ; "transmembrane protein 150b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284417 ; - skos:exactMatch HGNC_symbol:TMEM150B ; + skos:exactMatch UMLS:C2680488, + HGNC:34415, + HGNC_symbol:TMEM150B ; biolink:category biolink:Gene . OMIM:617292 a owl:Class ; rdfs:label "TMEM150C" ; IAO:0000142 PMID:27321926 ; - oboInOwl:hasDbXref UMLS:C2828872 ; oboInOwl:hasExactSynonym "TMEM150C", "tentonin 3", "transmembrane protein 150c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441027 ; - skos:exactMatch HGNC_symbol:TMEM150C ; + skos:exactMatch UMLS:C2828872, + HGNC:37263, + HGNC_symbol:TMEM150C ; biolink:category biolink:Gene . OMIM:617293 a owl:Class ; rdfs:label "MXRA8" ; IAO:0000142 PMID:14603461, PMID:29769725 ; - oboInOwl:hasDbXref UMLS:C1417519 ; oboInOwl:hasExactSynonym "MXRA8", "adipocyte-specific protein 3", "limitrin", "matrix remodeling-associated protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54587 ; - skos:exactMatch HGNC_symbol:MXRA8 ; + skos:exactMatch UMLS:C1417519, + HGNC:7542, + HGNC_symbol:MXRA8 ; biolink:category biolink:Gene . OMIM:617295 a owl:Class ; rdfs:label "RUNDC3B" ; IAO:0000142 PMID:12645870, PMID:26011749 ; - oboInOwl:hasDbXref UMLS:C2239914 ; oboInOwl:hasExactSynonym "RUNDC3B", "rap2-interacting protein 9", "run domain-containing protein 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154661 ; - skos:exactMatch HGNC_symbol:RUNDC3B ; + skos:exactMatch UMLS:C2239914, + HGNC:30286, + HGNC_symbol:RUNDC3B ; biolink:category biolink:Gene . OMIM:617296 a owl:Class ; rdfs:label "spastic paraplegia, intellectual disability, nystagmus, and obesity" ; IAO:0000142 PMID:26083449, PMID:27005418 ; - oboInOwl:hasDbXref UMLS:C4284592 ; oboInOwl:hasExactSynonym "SINO", "spastic paraplegia, intellectual disability, nystagmus, and obesity" ; + skos:exactMatch UMLS:C4284592 ; biolink:category biolink:Disease . OMIM:617298 a owl:Class ; rdfs:label "AIFM3" ; IAO:0000142 PMID:15764604, PMID:22387901 ; - oboInOwl:hasDbXref UMLS:C1826620 ; oboInOwl:hasExactSynonym "AIFM3", "apoptosis-inducing factor, mitochondria-associated, 3", "apoptosis-inducing factor-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150209 ; - skos:exactMatch HGNC_symbol:AIFM3 ; + skos:exactMatch UMLS:C1826620, + HGNC:26398, + HGNC_symbol:AIFM3 ; biolink:category biolink:Gene . OMIM:617299 a owl:Class ; rdfs:label "RPAIN" ; IAO:0000142 PMID:16008515 ; - oboInOwl:hasDbXref UMLS:C1826849 ; oboInOwl:hasExactSynonym "RPAIN", "rap-interacting protein", "rpa-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84268 ; - skos:exactMatch HGNC_symbol:RPAIN ; + skos:exactMatch UMLS:C1826849, + HGNC:28641, + HGNC_symbol:RPAIN ; biolink:category biolink:Gene . OMIM:617305 a owl:Class ; rdfs:label "FAM26F" ; IAO:0000142 PMID:21059856, PMID:25320282 ; - oboInOwl:hasDbXref UMLS:C2239395 ; oboInOwl:hasExactSynonym "FAM26F", "family with sequence similarity 26, member f", "irf3-dependent natural killer cell-activating molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441168 ; - skos:exactMatch HGNC_symbol:CALHM6 ; + skos:exactMatch UMLS:C2239395, + HGNC:33391, + HGNC_symbol:CALHM6 ; biolink:category biolink:Gene . OMIM:617306 a owl:Class ; rdfs:label "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" ; IAO:0000142 PMID:27889061 ; - oboInOwl:hasDbXref UMLS:C4310625 ; oboInOwl:hasExactSynonym "COMMAD", "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" ; + skos:exactMatch UMLS:C4310625 ; biolink:category biolink:Disease . OMIM:617307 a owl:Class ; @@ -352164,25 +367205,27 @@ OMIM:617307 a owl:Class ; PMID:33508233 ; RO:0002525 CHR:9606chr14q23.1 ; RO:0003303 OMIM:619202 ; - oboInOwl:hasDbXref UMLS:C1426476 ; oboInOwl:hasExactSynonym "C14ORF39", "chromosome 14 open reading frame 39", "six6 opposite strand transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:317761 ; - skos:exactMatch HGNC_symbol:C14orf39 ; + skos:exactMatch UMLS:C1426476, + HGNC:19849, + HGNC_symbol:C14orf39 ; biolink:category biolink:Gene . OMIM:617309 a owl:Class ; rdfs:label "IGFN1" ; IAO:0000142 PMID:18756455 ; - oboInOwl:hasDbXref UMLS:C2239526 ; oboInOwl:hasExactSynonym "IGFN1", "eef1a2-binding protein 1", "immunoglobulin-like and fibronectin iia 3 domains-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91156 ; - skos:exactMatch HGNC_symbol:IGFN1 ; + skos:exactMatch UMLS:C2239526, + HGNC:24607, + HGNC_symbol:IGFN1 ; biolink:category biolink:Gene . OMIM:617310 a owl:Class ; @@ -352190,12 +367233,13 @@ OMIM:617310 a owl:Class ; IAO:0000142 PMID:24998259, PMID:25671767, PMID:27417436 ; - oboInOwl:hasDbXref UMLS:C1823695 ; oboInOwl:hasExactSynonym "ANKS3", "ankyrin repeat and sterile alpha motif domains-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124401 ; - skos:exactMatch HGNC_symbol:ANKS3 ; + skos:exactMatch UMLS:C1823695, + HGNC:29422, + HGNC_symbol:ANKS3 ; biolink:category biolink:Gene . OMIM:617311 a owl:Class ; @@ -352205,38 +367249,41 @@ OMIM:617311 a owl:Class ; PMID:21893569, PMID:25919894, PMID:7720729 ; - oboInOwl:hasDbXref UMLS:C2681130 ; oboInOwl:hasExactSynonym "ZG16", "jacalin-like lectin domain-containing protein 1", "zg16a", "zymogen granule protein, 16-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653808 ; - skos:exactMatch HGNC_symbol:ZG16 ; + skos:exactMatch UMLS:C2681130, + HGNC:30961, + HGNC_symbol:ZG16 ; biolink:category biolink:Gene . OMIM:617312 a owl:Class ; rdfs:label "FAM160B1" ; IAO:0000142 PMID:10997877 ; - oboInOwl:hasDbXref UMLS:C1428835 ; oboInOwl:hasExactSynonym "FAM160B1", "family with sequence similarity 160, member b1", "kiaa1600" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57700 ; - skos:exactMatch HGNC_symbol:FHIP2A ; + skos:exactMatch UMLS:C1428835, + HGNC:29320, + HGNC_symbol:FHIP2A ; biolink:category biolink:Gene . OMIM:617313 a owl:Class ; rdfs:label "SHF" ; IAO:0000142 PMID:11095946, PMID:23360421 ; - oboInOwl:hasDbXref UMLS:C1822718 ; oboInOwl:hasExactSynonym "SHF", "sh2 domain-containing adaptor protein f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90525 ; - skos:exactMatch HGNC_symbol:SHF ; + skos:exactMatch UMLS:C1822718, + HGNC:25116, + HGNC_symbol:SHF ; biolink:category biolink:Gene . OMIM:617314 a owl:Class ; @@ -352245,13 +367292,14 @@ OMIM:617314 a owl:Class ; PMID:21624956, PMID:24508479, PMID:26305679 ; - oboInOwl:hasDbXref UMLS:C1428870 ; oboInOwl:hasExactSynonym "SH3YL1", "sh3 domain- and sylf domain-containing protein 1", "sh3 domain-containing ysc84-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26751 ; - skos:exactMatch HGNC_symbol:SH3YL1 ; + skos:exactMatch UMLS:C1428870, + HGNC:29546, + HGNC_symbol:SH3YL1 ; biolink:category biolink:Gene . OMIM:617315 a owl:Class ; @@ -352259,28 +367307,28 @@ OMIM:617315 a owl:Class ; IAO:0000142 PMID:11403040, PMID:12015278, PMID:27839872 ; - oboInOwl:hasDbXref UMLS:C4310623 ; oboInOwl:hasExactSynonym "ASGD6", "anterior segment dysgenesis 6" ; rdfs:subClassOf OMIMPS:107250 ; + skos:exactMatch UMLS:C4310623 ; biolink:category biolink:Disease . OMIM:617316 a owl:Class ; rdfs:label "TP53TG5" ; IAO:0000142 PMID:10719363 ; - oboInOwl:hasDbXref UMLS:C1423778 ; oboInOwl:hasExactSynonym "TP53TG5", "tp53 target gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27296 ; - skos:exactMatch HGNC_symbol:TP53TG5 ; + skos:exactMatch UMLS:C1423778, + HGNC:15856, + HGNC_symbol:TP53TG5 ; biolink:category biolink:Gene . OMIM:617317 a owl:Class ; rdfs:label "ZFP30" ; IAO:0000142 PMID:10231032, PMID:7849402 ; - oboInOwl:hasDbXref UMLS:C1823948 ; oboInOwl:hasExactSynonym "ZFP30", "kiaa0961", "zfp30 zinc finger protein", @@ -352288,121 +367336,132 @@ OMIM:617317 a owl:Class ; "zinc finger protein 745" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22835 ; - skos:exactMatch HGNC_symbol:ZFP30 ; + skos:exactMatch UMLS:C1823948, + HGNC:29555, + HGNC_symbol:ZFP30 ; biolink:category biolink:Gene . OMIM:617318 a owl:Class ; rdfs:label "RUSC1" ; IAO:0000142 PMID:10760598, PMID:15024033 ; - oboInOwl:hasDbXref UMLS:C1424781 ; oboInOwl:hasExactSynonym "RUSC1", "new molecule containing sh3 domain at the c terminus", "run domain- and sh3 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23623 ; - skos:exactMatch HGNC_symbol:RUSC1 ; + skos:exactMatch UMLS:C1424781, + HGNC:17153, + HGNC_symbol:RUSC1 ; biolink:category biolink:Gene . OMIM:617322 a owl:Class ; rdfs:label "SHKBP1" ; IAO:0000142 PMID:16733801, PMID:21830225 ; - oboInOwl:hasDbXref UMLS:C1539768 ; oboInOwl:hasExactSynonym "SHKBP1", "seta-binding protein 1", "sh3kbp1-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92799 ; - skos:exactMatch HGNC_symbol:SHKBP1 ; + skos:exactMatch UMLS:C1539768, + HGNC:19214, + HGNC_symbol:SHKBP1 ; biolink:category biolink:Gene . OMIM:617324 a owl:Class ; rdfs:label "SHISA2" ; IAO:0000142 PMID:17481602, PMID:22120523 ; - oboInOwl:hasDbXref UMLS:C1540020 ; oboInOwl:hasExactSynonym "SHISA2", "chromosome 13 open reading frame 13", "shisa family, member 2", "transmembrane protein 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387914 ; - skos:exactMatch HGNC_symbol:SHISA2 ; + skos:exactMatch UMLS:C1540020, + HGNC:20366, + HGNC_symbol:SHISA2 ; biolink:category biolink:Gene . OMIM:617325 a owl:Class ; rdfs:label "SHISA3" ; IAO:0000142 PMID:17481602, PMID:22120523 ; - oboInOwl:hasDbXref UMLS:C2680378 ; oboInOwl:hasExactSynonym "SHISA3", "shisa family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152573 ; - skos:exactMatch HGNC_symbol:SHISA3 ; + skos:exactMatch UMLS:C2680378, + HGNC:25159, + HGNC_symbol:SHISA3 ; biolink:category biolink:Gene . OMIM:617326 a owl:Class ; rdfs:label "SHISA4" ; IAO:0000142 PMID:17481602, PMID:22120523 ; - oboInOwl:hasDbXref UMLS:C2680379 ; oboInOwl:hasExactSynonym "SHISA4", "chromosome 1 open reading frame 40", "shisa family, member 4", "transmembrane protein 58" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149345 ; - skos:exactMatch HGNC_symbol:SHISA4 ; + skos:exactMatch UMLS:C2680379, + HGNC:27139, + HGNC_symbol:SHISA4 ; biolink:category biolink:Gene . OMIM:617327 a owl:Class ; rdfs:label "SHISA6" ; IAO:0000142 PMID:22120523 ; - oboInOwl:hasDbXref UMLS:C2828683 ; oboInOwl:hasExactSynonym "SHISA6", "shisa family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388336 ; - skos:exactMatch HGNC_symbol:SHISA6 ; + skos:exactMatch UMLS:C2828683, + HGNC:34491, + HGNC_symbol:SHISA6 ; biolink:category biolink:Gene . OMIM:617328 a owl:Class ; rdfs:label "SHISA7" ; IAO:0000142 PMID:22120523, PMID:31601770 ; - oboInOwl:hasDbXref UMLS:C2828684 ; oboInOwl:hasExactSynonym "SHISA7", "shisa family, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729956 ; - skos:exactMatch HGNC_symbol:SHISA7 ; + skos:exactMatch UMLS:C2828684, + HGNC:35409, + HGNC_symbol:SHISA7 ; biolink:category biolink:Gene . OMIM:617329 a owl:Class ; rdfs:label "SHISA8" ; IAO:0000142 PMID:22120523 ; - oboInOwl:hasDbXref UMLS:C1425465 ; oboInOwl:hasExactSynonym "SHISA8", "shisa family, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440829 ; - skos:exactMatch HGNC_symbol:SHISA8 ; + skos:exactMatch UMLS:C1425465, + HGNC:18351, + HGNC_symbol:SHISA8 ; biolink:category biolink:Gene . OMIM:617331 a owl:Class ; rdfs:label "MFSD4B" ; IAO:0000142 PMID:11572484, PMID:12590146 ; - oboInOwl:hasDbXref UMLS:C1427275 ; oboInOwl:hasExactSynonym "MFSD4B", "kiaa1919", "major facilitator superfamily domain-containing protein 4b", "sodium-dependent glucose transporter 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91749 ; - skos:exactMatch HGNC_symbol:MFSD4B ; + skos:exactMatch UMLS:C1427275, + HGNC:21053, + HGNC_symbol:MFSD4B ; biolink:category biolink:Gene . OMIM:617332 a owl:Class ; @@ -352412,36 +367471,39 @@ OMIM:617332 a owl:Class ; PMID:26548954 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:619646 ; - oboInOwl:hasDbXref UMLS:C1824604 ; oboInOwl:hasExactSynonym "TERB1", "coiled-coil domain-containing protein 79", "telomere repeat-binding bouquet formation protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283847 ; - skos:exactMatch HGNC_symbol:TERB1 ; + skos:exactMatch UMLS:C1824604, + HGNC:26675, + HGNC_symbol:TERB1 ; biolink:category biolink:Gene . OMIM:617334 a owl:Class ; rdfs:label "ZDHHC23" ; IAO:0000142 PMID:15105416 ; - oboInOwl:hasDbXref UMLS:C1428728 ; oboInOwl:hasExactSynonym "ZDHHC23", "neuronal nitric oxide synthase-interacting dhhc domain-containing protein with dendritic mrna", "zinc finger dhhc-type containing 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254887 ; - skos:exactMatch HGNC_symbol:ZDHHC23 ; + skos:exactMatch UMLS:C1428728, + HGNC:28654, + HGNC_symbol:ZDHHC23 ; biolink:category biolink:Gene . OMIM:617335 a owl:Class ; rdfs:label "EBPL" ; IAO:0000142 PMID:12760743 ; - oboInOwl:hasDbXref UMLS:C1539325 ; oboInOwl:hasExactSynonym "EBPL", "emopamil-binding protein-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84650 ; - skos:exactMatch HGNC_symbol:EBPL ; + skos:exactMatch UMLS:C1539325, + HGNC:18061, + HGNC_symbol:EBPL ; biolink:category biolink:Gene . OMIM:617338 a owl:Class ; @@ -352449,48 +367511,51 @@ OMIM:617338 a owl:Class ; IAO:0000142 PMID:10633082, PMID:11805099, PMID:28241136 ; - oboInOwl:hasDbXref UMLS:C1538500 ; oboInOwl:hasExactSynonym "NUDT16L1", "nudix hydrolase 16-like 1", "syndesmos", "tudor-interacting repair regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84309 ; - skos:exactMatch HGNC_symbol:NUDT16L1 ; + skos:exactMatch UMLS:C1538500, + HGNC:28154, + HGNC_symbol:NUDT16L1 ; biolink:category biolink:Gene . OMIM:617340 a owl:Class ; rdfs:label "UPP2" ; IAO:0000142 PMID:12849978 ; - oboInOwl:hasDbXref UMLS:C1427883 ; oboInOwl:hasExactSynonym "UPP2", "upase2", "uridine phosphorylase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151531 ; - skos:exactMatch HGNC_symbol:UPP2 ; + skos:exactMatch UMLS:C1427883, + HGNC:23061, + HGNC_symbol:UPP2 ; biolink:category biolink:Gene . OMIM:617342 a owl:Class ; rdfs:label "PTRHD1" ; IAO:0000142 PMID:27134041, PMID:27753167 ; - oboInOwl:hasDbXref UMLS:C2681204 ; oboInOwl:hasExactSynonym "PTRHD1", "chromosome 2 open reading frame 79", "peptidyl-trna hydrolase domain-containing 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391356 ; - skos:exactMatch HGNC_symbol:PTRHD1 ; + skos:exactMatch UMLS:C2681204, + HGNC:33782, + HGNC_symbol:PTRHD1 ; biolink:category biolink:Gene . OMIM:617343 a owl:Class ; rdfs:label "hyperparathyroidism 4" ; IAO:0000142 PMID:27745835 ; - oboInOwl:hasDbXref UMLS:C4479229 ; oboInOwl:hasExactSynonym "HRPT4", "hyperparathyroidism 4" ; rdfs:subClassOf OMIMPS:145000 ; + skos:exactMatch UMLS:C4479229 ; biolink:category biolink:Disease . OMIM:617344 a owl:Class ; @@ -352498,7 +367563,6 @@ OMIM:617344 a owl:Class ; IAO:0000142 PMID:16481321, PMID:21873224, PMID:25038227 ; - oboInOwl:hasDbXref UMLS:C4320711 ; oboInOwl:hasExactSynonym "PRAG1", "notch activation complex kinase", "peak family member 2", @@ -352506,20 +367570,23 @@ OMIM:617344 a owl:Class ; "pragma of rnd2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157285 ; - skos:exactMatch HGNC_symbol:PRAG1 ; + skos:exactMatch UMLS:C4320711, + HGNC:25438, + HGNC_symbol:PRAG1 ; biolink:category biolink:Gene . OMIM:617345 a owl:Class ; rdfs:label "AGBL2" ; IAO:0000142 PMID:21303978, PMID:25103237 ; - oboInOwl:hasDbXref UMLS:C1826608 ; oboInOwl:hasExactSynonym "AGBL2", "atp/gtp-binding protein-like 2", "cytosolic carboxypeptidase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79841 ; - skos:exactMatch HGNC_symbol:AGBL2 ; + skos:exactMatch UMLS:C1826608, + HGNC:26296, + HGNC_symbol:AGBL2 ; biolink:category biolink:Gene . OMIM:617346 a owl:Class ; @@ -352527,25 +367594,27 @@ OMIM:617346 a owl:Class ; IAO:0000142 PMID:21303978, PMID:25103237, PMID:31699823 ; - oboInOwl:hasDbXref UMLS:C1826609 ; oboInOwl:hasExactSynonym "AGBL3", "atp/gtp-binding protein-like 3", "cytosolic carboxypeptidase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340351 ; - skos:exactMatch HGNC_symbol:AGBL3 ; + skos:exactMatch UMLS:C1826609, + HGNC:27981, + HGNC_symbol:AGBL3 ; biolink:category biolink:Gene . OMIM:617348 a owl:Class ; rdfs:label "CPXM2" ; IAO:0000142 PMID:9809751 ; - oboInOwl:hasDbXref UMLS:C1539135 ; oboInOwl:hasExactSynonym "CPXM2", "carboxypeptidase x, m14 family, member 2", "cpx2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119587 ; - skos:exactMatch HGNC_symbol:CPXM2 ; + skos:exactMatch UMLS:C1539135, + HGNC:26977, + HGNC_symbol:CPXM2 ; biolink:category biolink:Gene . OMIM:617350 a owl:Class ; @@ -352555,23 +367624,24 @@ OMIM:617350 a owl:Class ; PMID:23148524, PMID:23182416, PMID:28218389 ; - oboInOwl:hasDbXref UMLS:C4479236, - ORPHA:1934 ; oboInOwl:hasExactSynonym "DEE52", "developmental and epileptic encephalopathy 52", "epileptic encephalopathy, early infantile, 52" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4479236, + ORPHA:1934 ; biolink:category biolink:Disease . OMIM:617351 a owl:Class ; rdfs:label "IGSF10" ; IAO:0000142 PMID:27137492 ; - oboInOwl:hasDbXref UMLS:C1428579 ; oboInOwl:hasExactSynonym "IGSF10", "immunoglobulin superfamily, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285313 ; - skos:exactMatch HGNC_symbol:IGSF10 ; + skos:exactMatch UMLS:C1428579, + HGNC:26384, + HGNC_symbol:IGSF10 ; biolink:category biolink:Gene . OMIM:617353 a owl:Class ; @@ -352579,37 +367649,40 @@ OMIM:617353 a owl:Class ; IAO:0000142 PMID:26044572 ; RO:0002525 CHR:9606chr3q29 ; RO:0003303 OMIM:617405 ; - oboInOwl:hasDbXref UMLS:C2240073 ; oboInOwl:hasExactSynonym "TCTEX1D2", "tctex1 domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255758 ; - skos:exactMatch HGNC_symbol:DYNLT2B ; + skos:exactMatch UMLS:C2240073, + HGNC:28482, + HGNC_symbol:DYNLT2B ; biolink:category biolink:Gene . OMIM:617354 a owl:Class ; rdfs:label "CBX8" ; IAO:0000142 PMID:10825164, PMID:27555324 ; - oboInOwl:hasDbXref UMLS:C1423866 ; oboInOwl:hasExactSynonym "CBX8", "chromobox 8", "chromobox homolog 8", "polycomb 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57332 ; - skos:exactMatch HGNC_symbol:CBX8 ; + skos:exactMatch UMLS:C1423866, + HGNC:15962, + HGNC_symbol:CBX8 ; biolink:category biolink:Gene . OMIM:617355 a owl:Class ; rdfs:label "EID2B" ; IAO:0000142 PMID:15970276 ; - oboInOwl:hasDbXref UMLS:C1825041 ; oboInOwl:hasExactSynonym "EID2B", "ep300-interacting inhibitor of differentiation 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126272 ; - skos:exactMatch HGNC_symbol:EID2B ; + skos:exactMatch UMLS:C1825041, + HGNC:26796, + HGNC_symbol:EID2B ; biolink:category biolink:Gene . OMIM:617356 a owl:Class ; @@ -352618,24 +367691,26 @@ OMIM:617356 a owl:Class ; PMID:12909363, PMID:15053980, PMID:17126404 ; - oboInOwl:hasDbXref UMLS:C1823128 ; oboInOwl:hasExactSynonym "SSPO", "sco-spondin", "subcommissural organ spondin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23145 ; - skos:exactMatch HGNC_symbol:SSPOP ; + skos:exactMatch UMLS:C1823128, + HGNC:21998, + HGNC_symbol:SSPOP ; biolink:category biolink:Gene . OMIM:617357 a owl:Class ; rdfs:label "ZNF222" ; IAO:0000142 PMID:12743021 ; - oboInOwl:hasDbXref UMLS:C1421711 ; oboInOwl:hasExactSynonym "ZNF222", "zinc finger protein 222" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7673 ; - skos:exactMatch HGNC_symbol:ZNF222 ; + skos:exactMatch UMLS:C1421711, + HGNC:13015, + HGNC_symbol:ZNF222 ; biolink:category biolink:Gene . OMIM:617358 a owl:Class ; @@ -352643,7 +367718,6 @@ OMIM:617358 a owl:Class ; IAO:0000142 PMID:11102519, PMID:11152476, PMID:22623796 ; - oboInOwl:hasDbXref UMLS:C1423706 ; oboInOwl:hasExactSynonym "SDCBP2", "similar to tacip18", "sitac18", @@ -352651,20 +367725,23 @@ OMIM:617358 a owl:Class ; "syntenin-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27111 ; - skos:exactMatch HGNC_symbol:SDCBP2 ; + skos:exactMatch UMLS:C1423706, + HGNC:15756, + HGNC_symbol:SDCBP2 ; biolink:category biolink:Gene . OMIM:617359 a owl:Class ; rdfs:label "STOX2" ; IAO:0000142 PMID:10718198, PMID:15806103 ; - oboInOwl:hasDbXref UMLS:C1539886 ; oboInOwl:hasExactSynonym "STOX2", "kiaa1392", "storkhead box 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56977 ; - skos:exactMatch HGNC_symbol:STOX2 ; + skos:exactMatch UMLS:C1539886, + HGNC:25450, + HGNC_symbol:STOX2 ; biolink:category biolink:Gene . OMIM:617361 a owl:Class ; @@ -352674,14 +367751,15 @@ OMIM:617361 a owl:Class ; PMID:21849472, PMID:27605705, PMID:28096412 ; - oboInOwl:hasDbXref UMLS:C1823370 ; oboInOwl:hasExactSynonym "TMEM108", "kiaa1690", "retrolinkin", "transmembrane protein 108" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:66000 ; - skos:exactMatch HGNC_symbol:TMEM108 ; + skos:exactMatch UMLS:C1823370, + HGNC:28451, + HGNC_symbol:TMEM108 ; biolink:category biolink:Gene . OMIM:617362 a owl:Class ; @@ -352695,11 +367773,6 @@ OMIM:617362 a owl:Class ; PMID:31745530 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:618731 ; - oboInOwl:hasDbXref UMLS:C0266427, - UMLS:C1424824, - UMLS:C5231546, - UMLS:C5231547, - UMLS:C5231548 ; oboInOwl:hasExactSynonym "DHX37", "dead/deah-box 37", "deah-box helicase 37", @@ -352707,7 +367780,13 @@ OMIM:617362 a owl:Class ; "kiaa1517" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57647 ; - skos:exactMatch HGNC_symbol:DHX37 ; + skos:exactMatch UMLS:C0266427, + UMLS:C1424824, + UMLS:C5231546, + UMLS:C5231547, + UMLS:C5231548, + HGNC:17210, + HGNC_symbol:DHX37 ; biolink:category biolink:Gene . OMIM:617363 a owl:Class ; @@ -352716,53 +367795,57 @@ OMIM:617363 a owl:Class ; PMID:12514190, PMID:16806201, PMID:27626380 ; - oboInOwl:hasDbXref UMLS:C1823391 ; oboInOwl:hasExactSynonym "TMEM132A", "grp78-binding protein", "kiaa1583", "transmembrane protein 132a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54972 ; - skos:exactMatch HGNC_symbol:TMEM132A ; + skos:exactMatch UMLS:C1823391, + HGNC:31092, + HGNC_symbol:TMEM132A ; biolink:category biolink:Gene . OMIM:617365 a owl:Class ; rdfs:label "AAR2" ; IAO:0000142 PMID:26527271 ; - oboInOwl:hasDbXref UMLS:C1423806 ; oboInOwl:hasExactSynonym "AAR2", "aar2 splicing factor", "aar2 splicing factor, s. cerevisiae, homolog of", "chromosome 20 open reading frame 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25980 ; - skos:exactMatch HGNC_symbol:AAR2 ; + skos:exactMatch UMLS:C1423806, + HGNC:15886, + HGNC_symbol:AAR2 ; biolink:category biolink:Gene . OMIM:617366 a owl:Class ; rdfs:label "CCDC91" ; IAO:0000142 PMID:12808037, PMID:17596511 ; - oboInOwl:hasDbXref UMLS:C1824618 ; oboInOwl:hasExactSynonym "CCDC91", "coiled-coil domain-containing protein 91", "p56" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55297 ; - skos:exactMatch HGNC_symbol:CCDC91 ; + skos:exactMatch UMLS:C1824618, + HGNC:24855, + HGNC_symbol:CCDC91 ; biolink:category biolink:Gene . OMIM:617367 a owl:Class ; rdfs:label "KIAA1217" ; IAO:0000142 PMID:10574462, PMID:19338451 ; - oboInOwl:hasDbXref UMLS:C1428486 ; oboInOwl:hasExactSynonym "KIAA1217", "kiaa1217 gene", "sickle tail, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56243 ; - skos:exactMatch HGNC_symbol:KIAA1217 ; + skos:exactMatch UMLS:C1428486, + HGNC:25428, + HGNC_symbol:KIAA1217 ; biolink:category biolink:Gene . OMIM:617368 a owl:Class ; @@ -352772,8 +367855,6 @@ OMIM:617368 a owl:Class ; PMID:22891260, PMID:23223568, PMID:7621827 ; - oboInOwl:hasDbXref UMLS:C1420021, - UMLS:C4479253 ; oboInOwl:hasExactSynonym "3bp1", "SH3BP1", "bargin", @@ -352782,7 +367863,10 @@ OMIM:617368 a owl:Class ; "sh3bp1/pdxp fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23616 ; - skos:exactMatch HGNC_symbol:SH3BP1 ; + skos:exactMatch UMLS:C1420021, + UMLS:C4479253, + HGNC:10824, + HGNC_symbol:SH3BP1 ; biolink:category biolink:Gene . OMIM:617369 a owl:Class ; @@ -352791,7 +367875,6 @@ OMIM:617369 a owl:Class ; PMID:16879614, PMID:20436279, PMID:9523163 ; - oboInOwl:hasDbXref UMLS:C1424719 ; oboInOwl:hasExactSynonym "HABP4", "hyaluronan-binding protein 4", "intracellular hyaluronan-binding protein 4", @@ -352799,16 +367882,18 @@ OMIM:617369 a owl:Class ; "ki1/57" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22927 ; - skos:exactMatch HGNC_symbol:HABP4 ; + skos:exactMatch UMLS:C1424719, + HGNC:17062, + HGNC_symbol:HABP4 ; biolink:category biolink:Gene . OMIM:617370 a owl:Class ; rdfs:label "peroxisome biogenesis disorder 10b" ; IAO:0000142 PMID:27557811 ; - oboInOwl:hasDbXref UMLS:C4479254 ; oboInOwl:hasExactSynonym "PBD10B", "peroxisome biogenesis disorder 10b" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C4479254 ; biolink:category biolink:Disease . OMIM:617371 a owl:Class ; @@ -352818,13 +367903,14 @@ OMIM:617371 a owl:Class ; PMID:31361404 ; RO:0002525 CHR:9606chr9q31.2 ; RO:0003303 OMIM:618619 ; - oboInOwl:hasDbXref UMLS:C1427693 ; oboInOwl:hasExactSynonym "ZNF462", "kiaa1803", "zinc finger protein 462" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58499 ; - skos:exactMatch HGNC_symbol:ZNF462 ; + skos:exactMatch UMLS:C1427693, + HGNC:21684, + HGNC_symbol:ZNF462 ; biolink:category biolink:Gene . OMIM:617372 a owl:Class ; @@ -352832,7 +367918,6 @@ OMIM:617372 a owl:Class ; IAO:0000142 PMID:17409413, PMID:17452444, PMID:24036217 ; - oboInOwl:hasDbXref UMLS:C1822715 ; oboInOwl:hasExactSynonym "SHC4", "rai-like protein", "sh2 domain protein c4", @@ -352841,86 +367926,95 @@ OMIM:617372 a owl:Class ; "shc transforming protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399694 ; - skos:exactMatch HGNC_symbol:SHC4 ; + skos:exactMatch UMLS:C1822715, + HGNC:16743, + HGNC_symbol:SHC4 ; biolink:category biolink:Gene . OMIM:617373 a owl:Class ; rdfs:label "PRRC2C" ; IAO:0000142 PMID:10470851, PMID:12443540 ; - oboInOwl:hasDbXref UMLS:C1538318 ; oboInOwl:hasExactSynonym "PRRC2C", "kiaa1096", "proline-rich coiled-coil protein 2c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23215 ; - skos:exactMatch HGNC_symbol:PRRC2C ; + skos:exactMatch UMLS:C1538318, + HGNC:24903, + HGNC_symbol:PRRC2C ; biolink:category biolink:Gene . OMIM:617374 a owl:Class ; rdfs:label "INCA1" ; IAO:0000142 PMID:15159402 ; - oboInOwl:hasDbXref UMLS:C2829584 ; oboInOwl:hasExactSynonym "INCA1", "hsd45", "inhibitor of cdk, cyclin a1-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388324 ; - skos:exactMatch HGNC_symbol:INCA1 ; + skos:exactMatch UMLS:C2829584, + HGNC:32224, + HGNC_symbol:INCA1 ; biolink:category biolink:Gene . OMIM:617375 a owl:Class ; rdfs:label "KLHDC9" ; IAO:0000142 PMID:15159402 ; - oboInOwl:hasDbXref UMLS:C2239565 ; oboInOwl:hasExactSynonym "KLHDC9", "kelch domain-containing protein 9", "kelch/ankyrin repeat-containing cyclin a1-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126823 ; - skos:exactMatch HGNC_symbol:KLHDC9 ; + skos:exactMatch UMLS:C2239565, + HGNC:28489, + HGNC_symbol:KLHDC9 ; biolink:category biolink:Gene . OMIM:617376 a owl:Class ; rdfs:label "PROCA1" ; IAO:0000142 PMID:15159402 ; - oboInOwl:hasDbXref UMLS:C2828553 ; oboInOwl:hasExactSynonym "PROCA1", "proline-rich cyclin a1-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147011 ; - skos:exactMatch HGNC_symbol:PROCA1 ; + skos:exactMatch UMLS:C2828553, + HGNC:28600, + HGNC_symbol:PROCA1 ; biolink:category biolink:Gene . OMIM:617377 a owl:Class ; rdfs:label "SYDE1" ; IAO:0000142 PMID:27917469 ; - oboInOwl:hasDbXref UMLS:C1823159 ; oboInOwl:hasExactSynonym "SYDE1", "syd1", "synapse defective rho gtpase homolog 1", "synapse defective rho gtpase, c. elegans, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85360 ; - skos:exactMatch HGNC_symbol:SYDE1 ; + skos:exactMatch UMLS:C1823159, + HGNC:25824, + HGNC_symbol:SYDE1 ; biolink:category biolink:Gene . OMIM:617378 a owl:Class ; - rdfs:label "MYLPF" ; + rdfs:label "MYL11" ; IAO:0000142 PMID:14756420, PMID:32707087 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:619110 ; - oboInOwl:hasDbXref UMLS:C2681932, - UMLS:C5436834 ; - oboInOwl:hasExactSynonym "MYLPF", + oboInOwl:hasExactSynonym "MYL11", "hsrlc", - "myosin light chain 11, regulatory", + "myosin light chain 11", "myosin light chain 2b", "myosin light chain, phosphorylatable, fast skeletal muscle", "myosin regulatory light chain 2, skeletal muscle isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29895 ; + skos:exactMatch UMLS:C2681932, + UMLS:C5436834, + HGNC:29824, + HGNC_symbol:MYL11 ; biolink:category biolink:Gene . OMIM:617379 a owl:Class ; @@ -352928,27 +368022,29 @@ OMIM:617379 a owl:Class ; IAO:0000142 PMID:19932026, PMID:25447992, PMID:26659663 ; - oboInOwl:hasDbXref UMLS:C1428566 ; oboInOwl:hasExactSynonym "MYO19", "myosin 19", "myosin head domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80179 ; - skos:exactMatch HGNC_symbol:MYO19 ; + skos:exactMatch UMLS:C1428566, + HGNC:26234, + HGNC_symbol:MYO19 ; biolink:category biolink:Gene . OMIM:617380 a owl:Class ; rdfs:label "TIMM29" ; IAO:0000142 PMID:27554484, PMID:27718247 ; - oboInOwl:hasDbXref UMLS:C4321054 ; oboInOwl:hasExactSynonym "TIMM29", "chromosome 19 open reading frame 52", "tim29", "translocase of inner mitochondrial membrane 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90580 ; - skos:exactMatch HGNC_symbol:TIMM29 ; + skos:exactMatch UMLS:C4321054, + HGNC:25152, + HGNC_symbol:TIMM29 ; biolink:category biolink:Gene . OMIM:617381 a owl:Class ; @@ -352956,13 +368052,14 @@ OMIM:617381 a owl:Class ; IAO:0000142 PMID:15053875, PMID:17567574, PMID:21337011 ; - oboInOwl:hasDbXref UMLS:C1538499 ; oboInOwl:hasExactSynonym "NUDT16", "nudix hydrolase 16", "nudix motif 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131870 ; - skos:exactMatch HGNC_symbol:NUDT16 ; + skos:exactMatch UMLS:C1538499, + HGNC:26442, + HGNC_symbol:NUDT16 ; biolink:category biolink:Gene . OMIM:617382 a owl:Class ; @@ -352971,35 +368068,37 @@ OMIM:617382 a owl:Class ; PMID:15911624, PMID:17561512, PMID:23200860 ; - oboInOwl:hasDbXref UMLS:C1419899 ; oboInOwl:hasExactSynonym "STARD10", "ny-co-28", "start domain-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10809 ; - skos:exactMatch HGNC_symbol:STARD10 ; + skos:exactMatch UMLS:C1419899, + HGNC:10666, + HGNC_symbol:STARD10 ; biolink:category biolink:Gene . OMIM:617383 a owl:Class ; rdfs:label "avascular necrosis of femoral head, primary, 2" ; IAO:0000142 PMID:27330106 ; - oboInOwl:hasDbXref UMLS:C4479260 ; oboInOwl:hasExactSynonym "ANFH2", "avascular necrosis of femoral head, primary, 2" ; rdfs:subClassOf OMIMPS:608805 ; + skos:exactMatch UMLS:C4479260 ; biolink:category biolink:Disease . OMIM:617385 a owl:Class ; rdfs:label "ATP6V1E2" ; IAO:0000142 PMID:11872743, PMID:12036578 ; - oboInOwl:hasDbXref UMLS:C4521003 ; oboInOwl:hasExactSynonym "ATP6V1E2", "atpase, h+ transporting, lysosomal, 31-kd, v1 subunit e, isoform 1", "vacuolar-type proton-translocating atpase subunit e1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90423 ; - skos:exactMatch HGNC_symbol:ATP6V1E2 ; + skos:exactMatch UMLS:C4521003, + HGNC:18125, + HGNC_symbol:ATP6V1E2 ; biolink:category biolink:Gene . OMIM:617387 a owl:Class ; @@ -353010,44 +368109,46 @@ OMIM:617387 a owl:Class ; PMID:30281152 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:617982 ; - oboInOwl:hasDbXref UMLS:C1826748 ; oboInOwl:hasExactSynonym "QRICH1", "glutamine-rich protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54870 ; - skos:exactMatch HGNC_symbol:QRICH1 ; + skos:exactMatch UMLS:C1826748, + HGNC:24713, + HGNC_symbol:QRICH1 ; biolink:category biolink:Gene . OMIM:617388 a owl:Class ; rdfs:label "autoinflammation with arthritis and dyskeratosis" ; IAO:0000142 PMID:16918630, PMID:27965258 ; - oboInOwl:hasDbXref UMLS:C4479278 ; oboInOwl:hasExactSynonym "AIADK", "autoinflammation with arthritis and dyskeratosis" ; + skos:exactMatch UMLS:C4479278 ; biolink:category biolink:Disease . OMIM:617389 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 53" ; IAO:0000142 PMID:27435091 ; - oboInOwl:hasDbXref UMLS:C4479313, - ORPHA:1934 ; oboInOwl:hasExactSynonym "DEE53", "developmental and epileptic encephalopathy 53", "epileptic encephalopathy, early infantile, 53" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4479313, + ORPHA:1934 ; biolink:category biolink:Disease . OMIM:617390 a owl:Class ; rdfs:label "KIAA1958" ; IAO:0000142 PMID:11853319, PMID:22011512 ; - oboInOwl:hasDbXref UMLS:C1428080 ; oboInOwl:hasExactSynonym "KIAA1958", "kiaa1958 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158405 ; - skos:exactMatch HGNC_symbol:KIAA1958 ; + skos:exactMatch UMLS:C1428080, + HGNC:23427, + HGNC_symbol:KIAA1958 ; biolink:category biolink:Gene . OMIM:617398 a owl:Class ; @@ -353055,7 +368156,6 @@ OMIM:617398 a owl:Class ; IAO:0000142 PMID:16756961, PMID:19121306, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1825302 ; oboInOwl:hasExactSynonym "FKBP15", "fk506-binding protein 15", "fk506-binding protein, 133-kd", @@ -353063,7 +368163,9 @@ OMIM:617398 a owl:Class ; "wasp- and fkbp-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23307 ; - skos:exactMatch HGNC_symbol:FKBP15 ; + skos:exactMatch UMLS:C1825302, + HGNC:23397, + HGNC_symbol:FKBP15 ; biolink:category biolink:Gene . OMIM:617399 a owl:Class ; @@ -353071,32 +368173,33 @@ OMIM:617399 a owl:Class ; IAO:0000142 PMID:11470509, PMID:11590176, PMID:16683188 ; - oboInOwl:hasDbXref UMLS:C1419148 ; oboInOwl:hasExactSynonym "PXMP2", "peroxisomal membrane protein 2", "peroxisomal membrane protein, 22-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5827 ; - skos:exactMatch HGNC_symbol:PXMP2 ; + skos:exactMatch UMLS:C1419148, + HGNC:9716, + HGNC_symbol:PXMP2 ; biolink:category biolink:Gene . OMIM:617400 a owl:Class ; rdfs:label "EPHX3" ; IAO:0000142 PMID:22798687 ; - oboInOwl:hasDbXref UMLS:C1428244 ; oboInOwl:hasExactSynonym "EPHX3", "abhydrolase domain-containing protein 9", "eh3", "epoxide hydrolase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79852 ; - skos:exactMatch HGNC_symbol:EPHX3 ; + skos:exactMatch UMLS:C1428244, + HGNC:23760, + HGNC_symbol:EPHX3 ; biolink:category biolink:Gene . OMIM:617401 a owl:Class ; rdfs:label "EPHX4" ; IAO:0000142 PMID:22798687 ; - oboInOwl:hasDbXref UMLS:C1428242 ; oboInOwl:hasExactSynonym "EPHX4", "abhydrolase domain-containing protein 7", "eh4", @@ -353104,28 +368207,30 @@ OMIM:617401 a owl:Class ; "epoxide hydrolase-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253152 ; - skos:exactMatch HGNC_symbol:EPHX4 ; + skos:exactMatch UMLS:C1428242, + HGNC:23758, + HGNC_symbol:EPHX4 ; biolink:category biolink:Gene . OMIM:617403 a owl:Class ; rdfs:label "cutis laxa, autosomal recessive, iia 2d" ; IAO:0000142 PMID:24459010, PMID:28065471 ; - oboInOwl:hasDbXref UMLS:C4479409, - ORPHA:357074 ; oboInOwl:hasExactSynonym "ARCL2D", "cutis laxa, autosomal recessive, iia 2d" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C4479409, + ORPHA:357074 ; biolink:category biolink:Disease . OMIM:617406 a owl:Class ; rdfs:label "bardet-biedl syndrome 21" ; IAO:0000142 PMID:26854863, PMID:27008867 ; - oboInOwl:hasDbXref UMLS:C4319932 ; oboInOwl:hasExactSynonym "BBS21", "bardet-biedl syndrome 21" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C4319932 ; biolink:category biolink:Disease . OMIM:617407 a owl:Class ; @@ -353133,38 +368238,41 @@ OMIM:617407 a owl:Class ; IAO:0000142 PMID:19273555, PMID:27136092, PMID:28596365 ; - oboInOwl:hasDbXref UMLS:C1538601 ; oboInOwl:hasExactSynonym "PCGF5", "polycomb group ring finger protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84333 ; - skos:exactMatch HGNC_symbol:PCGF5 ; + skos:exactMatch UMLS:C1538601, + HGNC:28264, + HGNC_symbol:PCGF5 ; biolink:category biolink:Gene . OMIM:617410 a owl:Class ; rdfs:label "ZNF419" ; IAO:0000142 PMID:21738768, PMID:27826023 ; - oboInOwl:hasDbXref UMLS:C1427057 ; oboInOwl:hasExactSynonym "ZNF419", "zinc finger protein 419" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79744 ; - skos:exactMatch HGNC_symbol:ZNF419 ; + skos:exactMatch UMLS:C1427057, + HGNC:20648, + HGNC_symbol:ZNF419 ; biolink:category biolink:Gene . OMIM:617411 a owl:Class ; rdfs:label "ARFGEF3" ; IAO:0000142 PMID:10574462, PMID:19496786 ; - oboInOwl:hasDbXref UMLS:C1427420 ; oboInOwl:hasExactSynonym "ARFGEF3", "adp-ribosylation factor guanine nucleotide exchange factor 3", "brefeldin a-inhibited guanine nucleotide exchange protein 3", "kiaa1244" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57221 ; - skos:exactMatch HGNC_symbol:ARFGEF3 ; + skos:exactMatch UMLS:C1427420, + HGNC:21213, + HGNC_symbol:ARFGEF3 ; biolink:category biolink:Gene . OMIM:617413 a owl:Class ; @@ -353176,14 +368284,15 @@ OMIM:617413 a owl:Class ; PMID:28334956 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:617481 ; - oboInOwl:hasDbXref UMLS:C1538733 ; oboInOwl:hasExactSynonym "PRUNE1", "drosophila-related expressed sequence 17", "prune exopolyphosphatase 1", "prune, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58497 ; - skos:exactMatch HGNC_symbol:PRUNE1 ; + skos:exactMatch UMLS:C1538733, + HGNC:13420, + HGNC_symbol:PRUNE1 ; biolink:category biolink:Gene . OMIM:617414 a owl:Class ; @@ -353191,13 +368300,14 @@ OMIM:617414 a owl:Class ; IAO:0000142 PMID:11401437, PMID:11875025, PMID:9480843 ; - oboInOwl:hasDbXref UMLS:C1419631 ; oboInOwl:hasExactSynonym "60s ribosomal protein 14", "RPL14", "ribosomal protein l14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9045 ; - skos:exactMatch HGNC_symbol:RPL14 ; + skos:exactMatch UMLS:C1419631, + HGNC:10305, + HGNC_symbol:RPL14 ; biolink:category biolink:Gene . OMIM:617415 a owl:Class ; @@ -353207,13 +368317,14 @@ OMIM:617415 a owl:Class ; PMID:25285958, PMID:2597680, PMID:2780320 ; - oboInOwl:hasDbXref UMLS:C1419657 ; oboInOwl:hasExactSynonym "60s ribosomal protein 31", "RPL31", "ribosomal protein l31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6160 ; - skos:exactMatch HGNC_symbol:RPL31 ; + skos:exactMatch UMLS:C1419657, + HGNC:10334, + HGNC_symbol:RPL31 ; biolink:category biolink:Gene . OMIM:617416 a owl:Class ; @@ -353221,25 +368332,27 @@ OMIM:617416 a owl:Class ; IAO:0000142 PMID:8921388 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:619371 ; - oboInOwl:hasDbXref UMLS:C1419674 ; oboInOwl:hasExactSynonym "60s ribosomal protein l3-like", "RPL3L", "ribosomal protein l3-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6123 ; - skos:exactMatch HGNC_symbol:RPL3L ; + skos:exactMatch UMLS:C1419674, + HGNC:10351, + HGNC_symbol:RPL3L ; biolink:category biolink:Gene . OMIM:617417 a owl:Class ; rdfs:label "RPL7L1" ; IAO:0000142 PMID:22681889 ; - oboInOwl:hasDbXref UMLS:C1427518 ; oboInOwl:hasExactSynonym "60s ribosomal protein l7-like 1", "RPL7L1", "ribosomal protein l7-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285855 ; - skos:exactMatch HGNC_symbol:RPL7L1 ; + skos:exactMatch UMLS:C1427518, + HGNC:21370, + HGNC_symbol:RPL7L1 ; biolink:category biolink:Gene . OMIM:617418 a owl:Class ; @@ -353248,79 +368361,85 @@ OMIM:617418 a owl:Class ; PMID:23723238, PMID:26972053, PMID:28199315 ; - oboInOwl:hasDbXref UMLS:C1538103 ; oboInOwl:hasExactSynonym "WDR59", "kiaa1923", "wd repeat-containing protein 59" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79726 ; - skos:exactMatch HGNC_symbol:WDR59 ; + skos:exactMatch UMLS:C1538103, + HGNC:25706, + HGNC_symbol:WDR59 ; biolink:category biolink:Gene . OMIM:617419 a owl:Class ; rdfs:label "P3H4" ; IAO:0000142 PMID:28115524, PMID:8862517 ; - oboInOwl:hasDbXref UMLS:C3147747 ; oboInOwl:hasExactSynonym "P3H4", "leprecan-like 4", "prolyl 3-hydroxylase 4", "synaptonemal complex protein 65" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10609 ; - skos:exactMatch HGNC_symbol:P3H4 ; + skos:exactMatch UMLS:C3147747, + HGNC:16946, + HGNC_symbol:P3H4 ; biolink:category biolink:Gene . OMIM:617420 a owl:Class ; rdfs:label "KICS2" ; IAO:0000142 PMID:28199306, PMID:29123071 ; - oboInOwl:hasDbXref UMLS:C2681273 ; oboInOwl:hasExactSynonym "KICS2", "chromosome 12 open reading frame 66", "kicstor subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144577 ; - skos:exactMatch HGNC_symbol:KICS2 ; + skos:exactMatch UMLS:C2681273, + HGNC:26517, + HGNC_symbol:KICS2 ; biolink:category biolink:Gene . OMIM:617421 a owl:Class ; rdfs:label "ITFG2" ; IAO:0000142 PMID:28199306, PMID:29123071 ; - oboInOwl:hasDbXref UMLS:C1825627 ; oboInOwl:hasExactSynonym "ITFG2", "fg-gap repeat-containing protein 1", "integrin-alpha fg-gap repeat-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55846 ; - skos:exactMatch HGNC_symbol:ITFG2 ; + skos:exactMatch UMLS:C1825627, + HGNC:30879, + HGNC_symbol:ITFG2 ; biolink:category biolink:Gene . OMIM:617422 a owl:Class ; rdfs:label "ADNP2" ; IAO:0000142 PMID:10048485, PMID:20598862 ; - oboInOwl:hasDbXref UMLS:C1823983 ; oboInOwl:hasExactSynonym "ADNP2", "activity-dependent neuroprotector homeobox 2", "adnp homeobox 2", "kiaa0863" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22850 ; - skos:exactMatch HGNC_symbol:ADNP2 ; + skos:exactMatch UMLS:C1823983, + HGNC:23803, + HGNC_symbol:ADNP2 ; biolink:category biolink:Gene . OMIM:617423 a owl:Class ; rdfs:label "PRR14" ; IAO:0000142 PMID:24209742, PMID:25906157 ; - oboInOwl:hasDbXref UMLS:C1826718 ; oboInOwl:hasExactSynonym "PRR14", "proline-rich protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:78994 ; - skos:exactMatch HGNC_symbol:PRR14 ; + skos:exactMatch UMLS:C1826718, + HGNC:28458, + HGNC_symbol:PRR14 ; biolink:category biolink:Gene . OMIM:617424 a owl:Class ; @@ -353332,34 +368451,35 @@ OMIM:617424 a owl:Class ; PMID:28686853 ; RO:0002525 CHR:9606chr1q42.11-q42.12 ; RO:0003303 OMIM:617616 ; - oboInOwl:hasDbXref UMLS:C1427415 ; oboInOwl:hasExactSynonym "WDR26", "gid complex, subunit 7", "glucose-induced degradation-deficient protein 7, s. cerevisiae, homolog of", "wd repeat-containing protein 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80232 ; - skos:exactMatch HGNC_symbol:WDR26 ; + skos:exactMatch UMLS:C1427415, + HGNC:21208, + HGNC_symbol:WDR26 ; biolink:category biolink:Gene . OMIM:617426 a owl:Class ; rdfs:label "CRCT1" ; IAO:0000142 PMID:11230159 ; - oboInOwl:hasDbXref UMLS:C1824788 ; oboInOwl:hasExactSynonym "CRCT1", "chromosome 1 open reading frame 42", "cysteine-rich c-terminal 1", "nice1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54544 ; - skos:exactMatch HGNC_symbol:CRCT1 ; + skos:exactMatch UMLS:C1824788, + HGNC:29875, + HGNC_symbol:CRCT1 ; biolink:category biolink:Gene . OMIM:617427 a owl:Class ; rdfs:label "S100A7A" ; IAO:0000142 PMID:11230159, PMID:12923069 ; - oboInOwl:hasDbXref UMLS:C1826961 ; oboInOwl:hasExactSynonym "S100A7A", "nice2", "s100 calcium-binding protein a15", @@ -353367,13 +368487,14 @@ OMIM:617427 a owl:Class ; "s100 calcium-binding protein a7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338324 ; - skos:exactMatch HGNC_symbol:S100A7A ; + skos:exactMatch UMLS:C1826961, + HGNC:21657, + HGNC_symbol:S100A7A ; biolink:category biolink:Gene . OMIM:617428 a owl:Class ; rdfs:label "C1ORF43" ; IAO:0000142 PMID:11230159 ; - oboInOwl:hasDbXref UMLS:C1538983 ; oboInOwl:hasExactSynonym "C1ORF43", "chromosome 1 open reading frame 43", "hepatitis c virus ns5a-transactivated protein 4", @@ -353381,7 +368502,9 @@ OMIM:617428 a owl:Class ; "nice3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25912 ; - skos:exactMatch HGNC_symbol:C1orf43 ; + skos:exactMatch UMLS:C1538983, + HGNC:29876, + HGNC_symbol:C1orf43 ; biolink:category biolink:Gene . OMIM:617429 a owl:Class ; @@ -353389,26 +368512,28 @@ OMIM:617429 a owl:Class ; IAO:0000142 PMID:11230159, PMID:18511602, PMID:22167327 ; - oboInOwl:hasDbXref UMLS:C1823571 ; oboInOwl:hasExactSynonym "UBE2Q1", "galactosyl transferase-associated protein", "nice5", "ubiquitin-conjugating enzyme e2q family member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55585 ; - skos:exactMatch HGNC_symbol:UBE2Q1 ; + skos:exactMatch UMLS:C1823571, + HGNC:15698, + HGNC_symbol:UBE2Q1 ; biolink:category biolink:Gene . OMIM:617430 a owl:Class ; rdfs:label "ADGRF1" ; IAO:0000142 PMID:12435584 ; - oboInOwl:hasDbXref UMLS:C1425936 ; oboInOwl:hasExactSynonym "ADGRF1", "adhesion g protein-coupled receptor f1", "g protein-coupled receptor 110" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:266977 ; - skos:exactMatch HGNC_symbol:ADGRF1 ; + skos:exactMatch UMLS:C1425936, + HGNC:18990, + HGNC_symbol:ADGRF1 ; biolink:category biolink:Gene . OMIM:617431 a owl:Class ; @@ -353417,25 +368542,27 @@ OMIM:617431 a owl:Class ; PMID:14715245 ; RO:0002525 CHR:9606chr4q26 ; RO:0003303 OMIM:619658 ; - oboInOwl:hasDbXref UMLS:C1428821 ; oboInOwl:hasExactSynonym "USP53", "kiaa1350", "ubiquitin-specific peptidase 53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54532 ; - skos:exactMatch HGNC_symbol:USP53 ; + skos:exactMatch UMLS:C1428821, + HGNC:29255, + HGNC_symbol:USP53 ; biolink:category biolink:Gene . OMIM:617434 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:14562052, PMID:25292198 ; - oboInOwl:hasDbXref UMLS:C4320014 ; oboInOwl:hasExactSynonym "host2", "long noncoding RNA host2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642934 ; - skos:exactMatch HGNC_symbol:CERNA2 ; + skos:exactMatch UMLS:C4320014, + HGNC:51354, + HGNC_symbol:CERNA2 ; biolink:category biolink:Gene . OMIM:617436 a owl:Class ; @@ -353443,83 +368570,87 @@ OMIM:617436 a owl:Class ; IAO:0000142 PMID:27903914 ; RO:0002525 CHR:9606chr14q32.12 ; RO:0003303 OMIM:619603 ; - oboInOwl:hasDbXref UMLS:C4320392 ; oboInOwl:hasExactSynonym "GON7", "chromosome 14 open reading frame 142", "gon7 subunit of keops complex", "gon7, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84520 ; - skos:exactMatch HGNC_symbol:GON7 ; + skos:exactMatch UMLS:C4320392, + HGNC:20356, + HGNC_symbol:GON7 ; biolink:category biolink:Gene . OMIM:617437 a owl:Class ; rdfs:label "S100A16" ; IAO:0000142 PMID:14684152, PMID:17030513 ; - oboInOwl:hasDbXref UMLS:C1426939 ; oboInOwl:hasExactSynonym "S100A16", "aging-associated gene 13", "s100 calcium-binding protein a16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140576 ; - skos:exactMatch HGNC_symbol:S100A16 ; + skos:exactMatch UMLS:C1426939, + HGNC:20441, + HGNC_symbol:S100A16 ; biolink:category biolink:Gene . OMIM:617438 a owl:Class ; rdfs:label "CBX6" ; IAO:0000142 PMID:18927235, PMID:22226355 ; - oboInOwl:hasDbXref UMLS:C1413161 ; oboInOwl:hasExactSynonym "CBX6", "chromobox 6", "chromobox homolog 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23466 ; - skos:exactMatch HGNC_symbol:CBX6 ; + skos:exactMatch UMLS:C1413161, + HGNC:1556, + HGNC_symbol:CBX6 ; biolink:category biolink:Gene . OMIM:617439 a owl:Class ; rdfs:label "craniosynostosis 7" ; IAO:0000142 PMID:23438589, PMID:27606499 ; - oboInOwl:hasDbXref UMLS:C4479496 ; oboInOwl:hasExactSynonym "CRS7", "craniosynostosis 7", "craniosynostosis 7, digenic", "crs7, digenic" ; rdfs:subClassOf OMIMPS:123100 ; + skos:exactMatch UMLS:C4479496 ; biolink:category biolink:Disease . OMIM:617440 a owl:Class ; rdfs:label "PTCSC1" ; IAO:0000142 PMID:19147577, PMID:28176758 ; - oboInOwl:hasDbXref UMLS:C2828582 ; oboInOwl:hasExactSynonym "PTCSC1", "noncoding RNA 197", "papillary thyroid carcinoma susceptibility candidate 1 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100302522 ; - skos:exactMatch HGNC_symbol:PTCSC1 ; + skos:exactMatch UMLS:C2828582, + HGNC:37127, + HGNC_symbol:PTCSC1 ; biolink:category biolink:Gene . OMIM:617444 a owl:Class ; rdfs:label "ZNF479" ; IAO:0000142 PMID:11410164 ; - oboInOwl:hasDbXref UMLS:C1428020 ; oboInOwl:hasExactSynonym "ZNF479", "kr19", "zinc finger protein 479" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90827 ; - skos:exactMatch HGNC_symbol:ZNF479 ; + skos:exactMatch UMLS:C1428020, + HGNC:23258, + HGNC_symbol:ZNF479 ; biolink:category biolink:Gene . OMIM:617445 a owl:Class ; rdfs:label "USP48" ; IAO:0000142 PMID:15354349 ; - oboInOwl:hasDbXref UMLS:C1425581 ; oboInOwl:hasExactSynonym "USP48", "ubiquitin-specific peptidase 31, formerly", "ubiquitin-specific peptidase 48", @@ -353527,20 +368658,23 @@ OMIM:617445 a owl:Class ; "ubiquitin-specific protease 48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84196 ; - skos:exactMatch HGNC_symbol:USP48 ; + skos:exactMatch UMLS:C1425581, + HGNC:18533, + HGNC_symbol:USP48 ; biolink:category biolink:Gene . OMIM:617446 a owl:Class ; rdfs:label "CHAC2" ; IAO:0000142 PMID:27913623 ; - oboInOwl:hasDbXref UMLS:C1824731 ; oboInOwl:hasExactSynonym "CHAC2", "cation transport regulator-like protein 2", "chac cation transport regulator homolog 2", "chac, e. coli, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:494143 ; - skos:exactMatch HGNC_symbol:CHAC2 ; + skos:exactMatch UMLS:C1824731, + HGNC:32363, + HGNC_symbol:CHAC2 ; biolink:category biolink:Gene . OMIM:617447 a owl:Class ; @@ -353548,7 +368682,6 @@ OMIM:617447 a owl:Class ; IAO:0000142 PMID:14583602, PMID:23398456, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1426662 ; oboInOwl:hasExactSynonym "PAN2", "kiaa0710", "pabp-dependent poly(a) nuclease 2", @@ -353556,19 +368689,22 @@ OMIM:617447 a owl:Class ; "ubiquitin-specific protease 52: usp52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9924 ; - skos:exactMatch HGNC_symbol:PAN2 ; + skos:exactMatch UMLS:C1426662, + HGNC:20074, + HGNC_symbol:PAN2 ; biolink:category biolink:Gene . OMIM:617448 a owl:Class ; rdfs:label "PAN3" ; IAO:0000142 PMID:14583602 ; - oboInOwl:hasDbXref UMLS:C1826539 ; oboInOwl:hasExactSynonym "PAN3", "pabp-dependent poly(a) nuclease 3", "pan3 poly(a)-specific ribonuclease subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255967 ; - skos:exactMatch HGNC_symbol:PAN3 ; + skos:exactMatch UMLS:C1826539, + HGNC:29991, + HGNC_symbol:PAN3 ; biolink:category biolink:Gene . OMIM:617449 a owl:Class ; @@ -353576,27 +368712,29 @@ OMIM:617449 a owl:Class ; IAO:0000142 PMID:28318500 ; RO:0002525 CHR:9606chr14q22.3 ; RO:0003303 OMIM:617478 ; - oboInOwl:hasDbXref UMLS:C1426758 ; oboInOwl:hasExactSynonym "TMEM260", "chromosome 14 open reading frame 101", "transmembrane protein 260" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54916 ; - skos:exactMatch HGNC_symbol:TMEM260 ; + skos:exactMatch UMLS:C1426758, + HGNC:20185, + HGNC_symbol:TMEM260 ; biolink:category biolink:Gene . OMIM:617451 a owl:Class ; rdfs:label "AKR1E2" ; IAO:0000142 PMID:12604216, PMID:15118078 ; - oboInOwl:hasDbXref UMLS:C1428085 ; oboInOwl:hasExactSynonym "AKR1E2", "aldo-keto reductase family 1, member e2", "human testis-specific protein", "testis aldo-keto reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83592 ; - skos:exactMatch HGNC_symbol:AKR1E2 ; + skos:exactMatch UMLS:C1428085, + HGNC:23437, + HGNC_symbol:AKR1E2 ; biolink:category biolink:Gene . OMIM:617453 a owl:Class ; @@ -353605,19 +368743,19 @@ OMIM:617453 a owl:Class ; PMID:24596149 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:619534 ; - oboInOwl:hasDbXref UMLS:C1823530 ; oboInOwl:hasExactSynonym "TTC26", "intraflagellar transport 56, chlamydomonas, homolog of", "tetratricopeptide repeat domain-containing protein 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79989 ; - skos:exactMatch HGNC_symbol:TTC26 ; + skos:exactMatch UMLS:C1823530, + HGNC:21882, + HGNC_symbol:TTC26 ; biolink:category biolink:Gene . OMIM:617454 a owl:Class ; rdfs:label "POLR3C" ; IAO:0000142 PMID:9171375 ; - oboInOwl:hasDbXref UMLS:C1538697 ; oboInOwl:hasExactSynonym "POLR3C", "RNA polymerase iii, 62-kd subunit", "RNA polymerase iii, subunit c3", @@ -353625,13 +368763,14 @@ OMIM:617454 a owl:Class ; "polymerase iii, rna, subunit c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10623 ; - skos:exactMatch HGNC_symbol:POLR3C ; + skos:exactMatch UMLS:C1538697, + HGNC:30076, + HGNC_symbol:POLR3C ; biolink:category biolink:Gene . OMIM:617455 a owl:Class ; rdfs:label "POLR3F" ; IAO:0000142 PMID:9171375 ; - oboInOwl:hasDbXref UMLS:C1423712 ; oboInOwl:hasExactSynonym "POLR3F", "RNA polymerase iii, 39-kd subunit", "RNA polymerase iii, subunit c6", @@ -353639,7 +368778,9 @@ OMIM:617455 a owl:Class ; "polymerase iii, rna, subunit f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10621 ; - skos:exactMatch HGNC_symbol:POLR3F ; + skos:exactMatch UMLS:C1423712, + HGNC:15763, + HGNC_symbol:POLR3F ; biolink:category biolink:Gene . OMIM:617456 a owl:Class ; @@ -353648,7 +368789,6 @@ OMIM:617456 a owl:Class ; PMID:21898682, PMID:24107381, PMID:9171375 ; - oboInOwl:hasDbXref UMLS:C1538699 ; oboInOwl:hasExactSynonym "POLR3G", "RNA polymerase iii, 32-kd subunit", "RNA polymerase iii, 32-kd subunit, alpha", @@ -353658,7 +368798,9 @@ OMIM:617456 a owl:Class ; "rpc32-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10622 ; - skos:exactMatch HGNC_symbol:POLR3G ; + skos:exactMatch UMLS:C1538699, + HGNC:30075, + HGNC_symbol:POLR3G ; biolink:category biolink:Gene . OMIM:617457 a owl:Class ; @@ -353667,7 +368809,6 @@ OMIM:617457 a owl:Class ; PMID:24107381 ; RO:0002525 CHR:9606chr1q21.1 ; RO:0003303 OMIM:619234 ; - oboInOwl:hasDbXref UMLS:C1538700 ; oboInOwl:hasExactSynonym "POLR3GL", "RNA polymerase iii, 32-kd subunit, beta", "RNA polymerase iii, subunit c7-like", @@ -353675,43 +368816,48 @@ OMIM:617457 a owl:Class ; "rpc32-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84265 ; - skos:exactMatch HGNC_symbol:POLR3GL ; + skos:exactMatch UMLS:C1538700, + HGNC:28466, + HGNC_symbol:POLR3GL ; biolink:category biolink:Gene . OMIM:617458 a owl:Class ; rdfs:label "PRKRIP1" ; IAO:0000142 PMID:12679338 ; - oboInOwl:hasDbXref UMLS:C1427746 ; oboInOwl:hasExactSynonym "PRKRIP1", "c114", "prkr-interacting protein 1, il11-inducible" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79706 ; - skos:exactMatch HGNC_symbol:PRKRIP1 ; + skos:exactMatch UMLS:C1427746, + HGNC:21894, + HGNC_symbol:PRKRIP1 ; biolink:category biolink:Gene . OMIM:617459 a owl:Class ; rdfs:label "TMCC3" ; IAO:0000142 PMID:27697108 ; - oboInOwl:hasDbXref UMLS:C1539982 ; oboInOwl:hasExactSynonym "TMCC3", "transmembrane and coiled-coil domain family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57458 ; - skos:exactMatch HGNC_symbol:TMCC3 ; + skos:exactMatch UMLS:C1539982, + HGNC:29199, + HGNC_symbol:TMCC3 ; biolink:category biolink:Gene . OMIM:617461 a owl:Class ; rdfs:label "YBEY" ; IAO:0000142 PMID:28153719 ; - oboInOwl:hasDbXref UMLS:C3147006 ; oboInOwl:hasExactSynonym "YBEY", "chromosome 21 open reading frame 57", "ybey metallopeptidase", "ybey, e. coli, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54059 ; - skos:exactMatch HGNC_symbol:YBEY ; + skos:exactMatch UMLS:C3147006, + HGNC:1299, + HGNC_symbol:YBEY ; biolink:category biolink:Gene . OMIM:617462 a owl:Class ; @@ -353720,92 +368866,99 @@ OMIM:617462 a owl:Class ; PMID:14550271, PMID:23954632, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1428919 ; oboInOwl:hasExactSynonym "PPRC1", "kiaa0595", "peroxisome proliferator-activated receptor-gamma, coactivator-related protein 1", "pgc1-related coactivator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23082 ; - skos:exactMatch HGNC_symbol:PPRC1 ; + skos:exactMatch UMLS:C1428919, + HGNC:30025, + HGNC_symbol:PPRC1 ; biolink:category biolink:Gene . OMIM:617463 a owl:Class ; rdfs:label "UNKL" ; IAO:0000142 PMID:20148946 ; - oboInOwl:hasDbXref UMLS:C1422471 ; oboInOwl:hasExactSynonym "UNKL", "chromosome 16 open reading frame 28", "unkempt family-like zinc finger", "zinc finger ccch domain-containing protein 5-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64718 ; - skos:exactMatch HGNC_symbol:UNKL ; + skos:exactMatch UMLS:C1422471, + HGNC:14184, + HGNC_symbol:UNKL ; biolink:category biolink:Gene . OMIM:617464 a owl:Class ; rdfs:label "UNC5CL" ; IAO:0000142 PMID:14769797 ; - oboInOwl:hasDbXref UMLS:C1427411 ; oboInOwl:hasExactSynonym "UNC5CL", "unc5 family c-terminal-like protein", "zu5 and death domains-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222643 ; - skos:exactMatch HGNC_symbol:UNC5CL ; + skos:exactMatch UMLS:C1427411, + HGNC:21203, + HGNC_symbol:UNC5CL ; biolink:category biolink:Gene . OMIM:617465 a owl:Class ; rdfs:label "SMIM20" ; IAO:0000142 PMID:26321642 ; - oboInOwl:hasDbXref UMLS:C3542069 ; oboInOwl:hasExactSynonym "SMIM20", "chromosome 4 open reading frame 52", "mitochondrial translation regulation assembly intermediate of cytochrome c oxidase 7", "small integral membrane protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389203 ; - skos:exactMatch HGNC_symbol:SMIM20 ; + skos:exactMatch UMLS:C3542069, + HGNC:37260, + HGNC_symbol:SMIM20 ; biolink:category biolink:Gene . OMIM:617467 a owl:Class ; rdfs:label "FRMD4B" ; IAO:0000142 PMID:10231032 ; - oboInOwl:hasDbXref UMLS:C1539534 ; oboInOwl:hasExactSynonym "FRMD4B", "ferm domain-containing protein 4b", "grp1-signaling partner 1", "kiaa1013" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23150 ; - skos:exactMatch HGNC_symbol:FRMD4B ; + skos:exactMatch UMLS:C1539534, + HGNC:24886, + HGNC_symbol:FRMD4B ; biolink:category biolink:Gene . OMIM:617469 a owl:Class ; rdfs:label "AFG1L" ; IAO:0000142 PMID:12079282, PMID:26759378 ; - oboInOwl:hasDbXref UMLS:C1424259 ; oboInOwl:hasExactSynonym "AFG1L", "afg1-like atpase", "atpase family gene 1, s. cerevisiae, homolog of", "lactation-elevated gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246269 ; - skos:exactMatch HGNC_symbol:AFG1L ; + skos:exactMatch UMLS:C1424259, + HGNC:16411, + HGNC_symbol:AFG1L ; biolink:category biolink:Gene . OMIM:617470 a owl:Class ; rdfs:label "USPL1" ; IAO:0000142 PMID:22878415, PMID:24413172 ; - oboInOwl:hasDbXref UMLS:C1823607 ; oboInOwl:hasExactSynonym "USPL1", "ubiquitin-specific peptidase-like 1", "usp-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10208 ; - skos:exactMatch HGNC_symbol:USPL1 ; + skos:exactMatch UMLS:C1823607, + HGNC:20294, + HGNC_symbol:USPL1 ; biolink:category biolink:Gene . OMIM:617471 a owl:Class ; @@ -353817,50 +368970,54 @@ OMIM:617471 a owl:Class ; PMID:23370777, PMID:25585626, PMID:26199422 ; - oboInOwl:hasDbXref UMLS:C1539754 ; oboInOwl:hasExactSynonym "SERPINA12", "serpin peptidase inhibitor, clade a, member 12", "visceral adipose-specific serpin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145264 ; - skos:exactMatch HGNC_symbol:SERPINA12 ; + skos:exactMatch UMLS:C1539754, + HGNC:18359, + HGNC_symbol:SERPINA12 ; biolink:category biolink:Gene . OMIM:617472 a owl:Class ; rdfs:label "TNN" ; IAO:0000142 PMID:12812753 ; - oboInOwl:hasDbXref UMLS:C1427797 ; oboInOwl:hasExactSynonym "TNN", "tenascin n" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63923 ; - skos:exactMatch HGNC_symbol:TNN ; + skos:exactMatch UMLS:C1427797, + HGNC:22942, + HGNC_symbol:TNN ; biolink:category biolink:Gene . OMIM:617473 a owl:Class ; rdfs:label "ATP5L" ; IAO:0000142 PMID:11042152, PMID:27561077 ; - oboInOwl:hasDbXref UMLS:C1422508 ; oboInOwl:hasExactSynonym "ATP5L", "atp synthase, h+ transporting, mitochondrial f0 complex, subunit g", "atp5jg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10632 ; - skos:exactMatch HGNC_symbol:ATP5MG ; + skos:exactMatch UMLS:C1422508, + HGNC:14247, + HGNC_symbol:ATP5MG ; biolink:category biolink:Gene . OMIM:617474 a owl:Class ; rdfs:label "ZNF609" ; IAO:0000142 PMID:28344082, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1428770 ; oboInOwl:hasExactSynonym "ZNF609", "kiaa0295", "zinc finger protein 609" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23060 ; - skos:exactMatch HGNC_symbol:ZNF609 ; + skos:exactMatch UMLS:C1428770, + HGNC:29003, + HGNC_symbol:ZNF609 ; biolink:category biolink:Gene . OMIM:617476 a owl:Class ; @@ -353869,9 +369026,6 @@ OMIM:617476 a owl:Class ; PMID:20016009, PMID:22085542, PMID:22851176 ; - oboInOwl:hasDbXref UMLS:C1539115, - UMLS:C2681616, - UMLS:C4479712 ; oboInOwl:hasExactSynonym "CNKSR3", "cnk, drosophila, homolog of, 3", "cnksr family, member 3", @@ -353880,26 +369034,30 @@ OMIM:617476 a owl:Class ; "pip3e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154043 ; - skos:exactMatch HGNC_symbol:CNKSR3 ; + skos:exactMatch UMLS:C1539115, + UMLS:C2681616, + UMLS:C4479712, + HGNC:23034, + HGNC_symbol:CNKSR3 ; biolink:category biolink:Gene . OMIM:617477 a owl:Class ; rdfs:label "ZNF324" ; IAO:0000142 PMID:11779640 ; - oboInOwl:hasDbXref UMLS:C1422402 ; oboInOwl:hasExactSynonym "ZNF324", "zf5128", "zinc finger protein 324" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25799 ; - skos:exactMatch HGNC_symbol:ZNF324 ; + skos:exactMatch UMLS:C1422402, + HGNC:14096, + HGNC_symbol:ZNF324 ; biolink:category biolink:Gene . OMIM:617479 a owl:Class ; rdfs:label "SSUH2" ; IAO:0000142 PMID:20205943, PMID:27680507 ; - oboInOwl:hasDbXref UMLS:C1824128 ; oboInOwl:hasExactSynonym "SSUH2", "chromosome 3 open reading frame 32", "fls485", @@ -353908,7 +369066,9 @@ OMIM:617479 a owl:Class ; "ssu2, c. elegans, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51066 ; - skos:exactMatch HGNC_symbol:SSUH2 ; + skos:exactMatch UMLS:C1824128, + HGNC:24809, + HGNC_symbol:SSUH2 ; biolink:category biolink:Gene . OMIM:617480 a owl:Class ; @@ -353917,45 +369077,48 @@ OMIM:617480 a owl:Class ; PMID:27490115, PMID:27610946, PMID:27855412 ; - oboInOwl:hasDbXref UMLS:C4479552 ; oboInOwl:hasExactSynonym "46,xx sex reversal 4", "46,xx sex reversal, sry-negative", "SRXX4" ; + skos:exactMatch UMLS:C4479552 ; biolink:category biolink:Disease . OMIM:617482 a owl:Class ; rdfs:label "TP53TG3" ; IAO:0000142 PMID:10534768 ; - oboInOwl:hasDbXref UMLS:C2680497 ; oboInOwl:hasExactSynonym "TP53TG3", "tp53 target gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24150 ; - skos:exactMatch HGNC_symbol:TP53TG3 ; + skos:exactMatch UMLS:C2680497, + HGNC:30759, + HGNC_symbol:TP53TG3 ; biolink:category biolink:Gene . OMIM:617483 a owl:Class ; rdfs:label "CNIH4" ; IAO:0000142 PMID:24405750 ; - oboInOwl:hasDbXref UMLS:C1824764 ; oboInOwl:hasExactSynonym "CNIH4", "cornichon family ampa receptor auxiliary protein 4", "cornichon, drosophila, homolog of, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29097 ; - skos:exactMatch HGNC_symbol:CNIH4 ; + skos:exactMatch UMLS:C1824764, + HGNC:25013, + HGNC_symbol:CNIH4 ; biolink:category biolink:Gene . OMIM:617484 a owl:Class ; rdfs:label "GTSF1" ; IAO:0000142 PMID:27646122 ; - oboInOwl:hasDbXref UMLS:C1825244 ; oboInOwl:hasExactSynonym "GTSF1", "family with sequence similarity 112, member B", "gametocyte-specific factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121355 ; - skos:exactMatch HGNC_symbol:GTSF1 ; + skos:exactMatch UMLS:C1825244, + HGNC:26565, + HGNC_symbol:GTSF1 ; biolink:category biolink:Gene . OMIM:617485 a owl:Class ; @@ -353967,74 +369130,80 @@ OMIM:617485 a owl:Class ; PMID:27008544 ; RO:0002525 CHR:9606chr4q21.23 ; RO:0003303 OMIM:617520 ; - oboInOwl:hasDbXref UMLS:C1427109 ; oboInOwl:hasExactSynonym "WDFY3", "autophagy-linked fyve protein", "blue cheese, drosophila, homolog of", "wd repeat- and fyve domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23001 ; - skos:exactMatch HGNC_symbol:WDFY3 ; + skos:exactMatch UMLS:C1427109, + HGNC:20751, + HGNC_symbol:WDFY3 ; biolink:category biolink:Gene . OMIM:617486 a owl:Class ; rdfs:label "GPATCH3" ; IAO:0000142 PMID:28397860, PMID:28414768 ; - oboInOwl:hasDbXref UMLS:C1539596 ; oboInOwl:hasExactSynonym "GPATCH3", "g-patch domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63906 ; - skos:exactMatch HGNC_symbol:GPATCH3 ; + skos:exactMatch UMLS:C1539596, + HGNC:25720, + HGNC_symbol:GPATCH3 ; biolink:category biolink:Gene . OMIM:617487 a owl:Class ; rdfs:label "DNAJB14" ; IAO:0000142 PMID:21673190, PMID:24732912 ; - oboInOwl:hasDbXref UMLS:C1824945 ; oboInOwl:hasExactSynonym "DNAJB14", "dnaj/hsp40 homolog, subfamily b, member 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79982 ; - skos:exactMatch HGNC_symbol:DNAJB14 ; + skos:exactMatch UMLS:C1824945, + HGNC:25881, + HGNC_symbol:DNAJB14 ; biolink:category biolink:Gene . OMIM:617488 a owl:Class ; rdfs:label "RPUSD4" ; IAO:0000142 PMID:27974379, PMID:28082677 ; - oboInOwl:hasDbXref UMLS:C1539700 ; oboInOwl:hasExactSynonym "RNA pseudouridylate synthase domain-containing protein 4", "RPUSD4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84881 ; - skos:exactMatch HGNC_symbol:RPUSD4 ; + skos:exactMatch UMLS:C1539700, + HGNC:25898, + HGNC_symbol:RPUSD4 ; biolink:category biolink:Gene . OMIM:617489 a owl:Class ; rdfs:label "LINC00305" ; IAO:0000142 PMID:28393844 ; - oboInOwl:hasDbXref UMLS:C3470659 ; oboInOwl:hasExactSynonym "LINC00305", "lincrna 305", "long intergenic noncoding RNA 305" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221241 ; - skos:exactMatch HGNC_symbol:LINC00305 ; + skos:exactMatch UMLS:C3470659, + HGNC:28597, + HGNC_symbol:LINC00305 ; biolink:category biolink:Gene . OMIM:617490 a owl:Class ; rdfs:label "CATSPERD" ; IAO:0000142 PMID:21224844 ; - oboInOwl:hasDbXref UMLS:C3469784 ; oboInOwl:hasExactSynonym "CATSPERD", "cation channel, sperm-associated, auxiliary subunit delta", "transmembrane protein 146" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257062 ; - skos:exactMatch HGNC_symbol:CATSPERD ; + skos:exactMatch UMLS:C3469784, + HGNC:28598, + HGNC_symbol:CATSPERD ; biolink:category biolink:Gene . OMIM:617491 a owl:Class ; @@ -354045,14 +369214,15 @@ OMIM:617491 a owl:Class ; PMID:32488845 ; RO:0002525 CHR:9606chr3q11.2 ; RO:0003303 OMIM:619012 ; - oboInOwl:hasDbXref UMLS:C1538490, - UMLS:C5436602 ; oboInOwl:hasExactSynonym "NSUN3", "nol1/nop2/sun domain family, member 3", "nop2/sun RNA methyltransferase family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63899 ; - skos:exactMatch HGNC_symbol:NSUN3 ; + skos:exactMatch UMLS:C1538490, + UMLS:C5436602, + HGNC:26208, + HGNC_symbol:NSUN3 ; biolink:category biolink:Gene . OMIM:617492 a owl:Class ; @@ -354062,19 +369232,19 @@ OMIM:617492 a owl:Class ; PMID:25298399, PMID:27844144, PMID:28062493 ; - oboInOwl:hasDbXref UMLS:C1424809 ; oboInOwl:hasExactSynonym "OLFM2", "noelin 2", "olfactomedin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93145 ; - skos:exactMatch HGNC_symbol:OLFM2 ; + skos:exactMatch UMLS:C1424809, + HGNC:17189, + HGNC_symbol:OLFM2 ; biolink:category biolink:Gene . OMIM:617494 a owl:Class ; rdfs:label "EML2" ; IAO:0000142 PMID:10521658 ; - oboInOwl:hasDbXref UMLS:C1425255 ; oboInOwl:hasExactSynonym "EML2", "echinoderm microtubule-associated protein-like 2", "emap-like 2", @@ -354082,81 +369252,89 @@ OMIM:617494 a owl:Class ; "emap-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24139 ; - skos:exactMatch HGNC_symbol:EML2 ; + skos:exactMatch UMLS:C1425255, + HGNC:18035, + HGNC_symbol:EML2 ; biolink:category biolink:Gene . OMIM:617495 a owl:Class ; rdfs:label "FAM19A1" ; IAO:0000142 PMID:15028294 ; - oboInOwl:hasDbXref UMLS:C1539390 ; oboInOwl:hasExactSynonym "FAM19A1", "family with sequence similarity 19, member a1, cc motif chemokine-like", "tafa1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407738 ; - skos:exactMatch HGNC_symbol:TAFA1 ; + skos:exactMatch UMLS:C1539390, + HGNC:21587, + HGNC_symbol:TAFA1 ; biolink:category biolink:Gene . OMIM:617496 a owl:Class ; rdfs:label "FAM19A2" ; IAO:0000142 PMID:15028294 ; - oboInOwl:hasDbXref UMLS:C1539391 ; oboInOwl:hasExactSynonym "FAM19A2", "family with sequence similarity 19, member a2, cc motif chemokine-like", "tafa2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338811 ; - skos:exactMatch HGNC_symbol:TAFA2 ; + skos:exactMatch UMLS:C1539391, + HGNC:21589, + HGNC_symbol:TAFA2 ; biolink:category biolink:Gene . OMIM:617497 a owl:Class ; rdfs:label "FAM19A3" ; IAO:0000142 PMID:15028294 ; - oboInOwl:hasDbXref UMLS:C1539392 ; oboInOwl:hasExactSynonym "FAM19A3", "family with sequence similarity 19, member a3, cc motif chemokine-like", "tafa3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284467 ; - skos:exactMatch HGNC_symbol:TAFA3 ; + skos:exactMatch UMLS:C1539392, + HGNC:21590, + HGNC_symbol:TAFA3 ; biolink:category biolink:Gene . OMIM:617498 a owl:Class ; rdfs:label "FAM19A4" ; IAO:0000142 PMID:15028294 ; - oboInOwl:hasDbXref UMLS:C1539393 ; oboInOwl:hasExactSynonym "FAM19A4", "family with sequence similarity 19, member a4, cc motif chemokine-like", "tafa4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151647 ; - skos:exactMatch HGNC_symbol:TAFA4 ; + skos:exactMatch UMLS:C1539393, + HGNC:21591, + HGNC_symbol:TAFA4 ; biolink:category biolink:Gene . OMIM:617499 a owl:Class ; rdfs:label "FAM19A5" ; IAO:0000142 PMID:15028294 ; - oboInOwl:hasDbXref UMLS:C1539394 ; oboInOwl:hasExactSynonym "FAM19A5", "family with sequence similarity 19, member a5, cc motif chemokine-like", "tafa5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25817 ; - skos:exactMatch HGNC_symbol:TAFA5 ; + skos:exactMatch UMLS:C1539394, + HGNC:21592, + HGNC_symbol:TAFA5 ; biolink:category biolink:Gene . OMIM:617500 a owl:Class ; rdfs:label "UCA1" ; IAO:0000142 PMID:22285928, PMID:26867765 ; - oboInOwl:hasDbXref UMLS:C2829000 ; oboInOwl:hasExactSynonym "UCA1", "cudr", "long intergenic noncoding RNA 178", "urothelial cancer-associated gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:652995 ; - skos:exactMatch HGNC_symbol:UCA1 ; + skos:exactMatch UMLS:C2829000, + HGNC:37126, + HGNC_symbol:UCA1 ; biolink:category biolink:Gene . OMIM:617501 a owl:Class ; @@ -354164,26 +369342,28 @@ OMIM:617501 a owl:Class ; IAO:0000142 PMID:10924333, PMID:18838386, PMID:19103755 ; - oboInOwl:hasDbXref UMLS:C1423821 ; oboInOwl:hasExactSynonym "KAT14", "ada2a-containing complex subunit 2", "crp2-binding partner", "lysine acetyltransferase 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57325 ; - skos:exactMatch HGNC_symbol:KAT14 ; + skos:exactMatch UMLS:C1423821, + HGNC:15904, + HGNC_symbol:KAT14 ; biolink:category biolink:Gene . OMIM:617502 a owl:Class ; rdfs:label "WDR41" ; IAO:0000142 PMID:27193190, PMID:32848248 ; - oboInOwl:hasDbXref UMLS:C1538082 ; oboInOwl:hasExactSynonym "WDR41", "wd repeat-containing protein 41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55255 ; - skos:exactMatch HGNC_symbol:WDR41 ; + skos:exactMatch UMLS:C1538082, + HGNC:25601, + HGNC_symbol:WDR41 ; biolink:category biolink:Gene . OMIM:617503 a owl:Class ; @@ -354191,38 +369371,41 @@ OMIM:617503 a owl:Class ; IAO:0000142 PMID:10048485, PMID:20937701, PMID:24719330 ; - oboInOwl:hasDbXref UMLS:C1824912 ; oboInOwl:hasExactSynonym "DENND3", "denn domain-containing protein 3", "denn/madd domain-containing protein 3", "kiaa0870" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22898 ; - skos:exactMatch HGNC_symbol:DENND3 ; + skos:exactMatch UMLS:C1824912, + HGNC:29134, + HGNC_symbol:DENND3 ; biolink:category biolink:Gene . OMIM:617504 a owl:Class ; rdfs:label "SIPA1L1" ; IAO:0000142 PMID:9858596 ; - oboInOwl:hasDbXref UMLS:C1426838 ; oboInOwl:hasExactSynonym "SIPA1L1", "e6-targeted protein 1", "kiaa0440", "sipa1-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26037 ; - skos:exactMatch HGNC_symbol:SIPA1L1 ; + skos:exactMatch UMLS:C1426838, + HGNC:20284, + HGNC_symbol:SIPA1L1 ; biolink:category biolink:Gene . OMIM:617505 a owl:Class ; rdfs:label "TRAM1L1" ; IAO:0000142 PMID:14749390 ; - oboInOwl:hasDbXref UMLS:C1428697 ; oboInOwl:hasExactSynonym "TRAM1L1", "translocation-associated membrane protein 1-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133022 ; - skos:exactMatch HGNC_symbol:TRAM1L1 ; + skos:exactMatch UMLS:C1428697, + HGNC:28371, + HGNC_symbol:TRAM1L1 ; biolink:category biolink:Gene . OMIM:617508 a owl:Class ; @@ -354230,25 +369413,27 @@ OMIM:617508 a owl:Class ; IAO:0000142 PMID:22751931, PMID:28065601, PMID:28132843 ; - oboInOwl:hasDbXref UMLS:C1428666 ; oboInOwl:hasExactSynonym "ZNF598", "zinc finger protein 598" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90850 ; - skos:exactMatch HGNC_symbol:ZNF598 ; + skos:exactMatch UMLS:C1428666, + HGNC:28079, + HGNC_symbol:ZNF598 ; biolink:category biolink:Gene . OMIM:617509 a owl:Class ; rdfs:label "VWA8" ; IAO:0000142 PMID:28414126, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C3542525 ; oboInOwl:hasExactSynonym "VWA8", "kiaa0564", "von willebrand factor a domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23078 ; - skos:exactMatch HGNC_symbol:VWA8 ; + skos:exactMatch UMLS:C3542525, + HGNC:29071, + HGNC_symbol:VWA8 ; biolink:category biolink:Gene . OMIM:617510 a owl:Class ; @@ -354256,25 +369441,27 @@ OMIM:617510 a owl:Class ; IAO:0000142 PMID:26453676, PMID:28226241, PMID:30239785 ; - oboInOwl:hasDbXref UMLS:C1823721 ; oboInOwl:hasExactSynonym "CATSPERE", "cation channel, sperm-associated, auxiliary subunit epsilon", "chromosome 1 open reading frame 101" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257044 ; - skos:exactMatch HGNC_symbol:CATSPERE ; + skos:exactMatch UMLS:C1823721, + HGNC:28491, + HGNC_symbol:CATSPERE ; biolink:category biolink:Gene . OMIM:617511 a owl:Class ; rdfs:label "CATSPERZ" ; IAO:0000142 PMID:28226241 ; - oboInOwl:hasDbXref UMLS:C2700596 ; oboInOwl:hasExactSynonym "CATSPERZ", "cation channel, sperm-associated, auxiliary subunit zeta", "testis-expressed gene 40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25858 ; - skos:exactMatch HGNC_symbol:CATSPERZ ; + skos:exactMatch UMLS:C2700596, + HGNC:19231, + HGNC_symbol:CATSPERZ ; biolink:category biolink:Gene . OMIM:617512 a owl:Class ; @@ -354282,14 +369469,15 @@ OMIM:617512 a owl:Class ; IAO:0000142 PMID:10873617, PMID:15882980, PMID:16446156 ; - oboInOwl:hasDbXref UMLS:C1422074 ; oboInOwl:hasExactSynonym "ZNF318", "testicular zinc finger", "zfp318", "zinc finger protein 318" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:24149 ; - skos:exactMatch HGNC_symbol:ZNF318 ; + skos:exactMatch UMLS:C1422074, + HGNC:13578, + HGNC_symbol:ZNF318 ; biolink:category biolink:Gene . OMIM:617513 a owl:Class ; @@ -354300,13 +369488,14 @@ OMIM:617513 a owl:Class ; PMID:28017472 ; RO:0002525 CHR:9606chr10q11.23 ; RO:0003303 OMIM:619701 ; - oboInOwl:hasDbXref UMLS:C1538529 ; oboInOwl:hasExactSynonym "OGDHL", "kiaa1290", "oxoglutarate dehydrogenase-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55753 ; - skos:exactMatch HGNC_symbol:OGDHL ; + skos:exactMatch UMLS:C1538529, + HGNC:25590, + HGNC_symbol:OGDHL ; biolink:category biolink:Gene . OMIM:617515 a owl:Class ; @@ -354317,14 +369506,15 @@ OMIM:617515 a owl:Class ; PMID:27563067, PMID:30143535, PMID:32005703 ; - oboInOwl:hasDbXref UMLS:C1826822 ; oboInOwl:hasExactSynonym "RHBDD1", "rhomboid domain-containing 1", "rhomboid-like protein 4", "rhomboid-related protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84236 ; - skos:exactMatch HGNC_symbol:RHBDD1 ; + skos:exactMatch UMLS:C1826822, + HGNC:23081, + HGNC_symbol:RHBDD1 ; biolink:category biolink:Gene . OMIM:617517 a owl:Class ; @@ -354332,95 +369522,102 @@ OMIM:617517 a owl:Class ; IAO:0000142 PMID:10552933, PMID:12077123, PMID:15750338 ; - oboInOwl:hasDbXref UMLS:C1419750 ; oboInOwl:hasExactSynonym "RPS6KC1", "ribosomal protein s6 kinase c1", "ribosomal protein s6 kinase-like protein with 2 psk domains, 118-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26750 ; - skos:exactMatch HGNC_symbol:RPS6KC1 ; + skos:exactMatch UMLS:C1419750, + HGNC:10439, + HGNC_symbol:RPS6KC1 ; biolink:category biolink:Gene . OMIM:617518 a owl:Class ; rdfs:label "BSDC1" ; IAO:0000142 PMID:12975309 ; - oboInOwl:hasDbXref UMLS:C1823191 ; oboInOwl:hasExactSynonym "BSDC1", "bsd domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55108 ; - skos:exactMatch HGNC_symbol:BSDC1 ; + skos:exactMatch UMLS:C1823191, + HGNC:25501, + HGNC_symbol:BSDC1 ; biolink:category biolink:Gene . OMIM:617521 a owl:Class ; rdfs:label "YIPF1" ; IAO:0000142 PMID:28286305 ; - oboInOwl:hasDbXref UMLS:C1823886 ; oboInOwl:hasExactSynonym "YIPF1", "yip1 domain family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54432 ; - skos:exactMatch HGNC_symbol:YIPF1 ; + skos:exactMatch UMLS:C1823886, + HGNC:25231, + HGNC_symbol:YIPF1 ; biolink:category biolink:Gene . OMIM:617522 a owl:Class ; rdfs:label "YIPF2" ; IAO:0000142 PMID:28286305 ; - oboInOwl:hasDbXref UMLS:C1823887 ; oboInOwl:hasExactSynonym "YIPF2", "yip1 domain family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:78992 ; - skos:exactMatch HGNC_symbol:YIPF2 ; + skos:exactMatch UMLS:C1823887, + HGNC:28476, + HGNC_symbol:YIPF2 ; biolink:category biolink:Gene . OMIM:617525 a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 3" ; IAO:0000142 PMID:25398053 ; - oboInOwl:hasDbXref UMLS:C4479619 ; oboInOwl:hasExactSynonym "EKVP3", "erythrokeratodermia variabilis et progressiva 3" ; rdfs:subClassOf OMIMPS:133200 ; + skos:exactMatch UMLS:C4479619 ; biolink:category biolink:Disease . OMIM:617528 a owl:Class ; rdfs:label "PSMG3" ; IAO:0000142 PMID:17189198, PMID:17707236 ; - oboInOwl:hasDbXref UMLS:C1824233 ; oboInOwl:hasExactSynonym "PSMG3", "pac3", "proteasome assembly chaperone 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84262 ; - skos:exactMatch HGNC_symbol:PSMG3 ; + skos:exactMatch UMLS:C1824233, + HGNC:22420, + HGNC_symbol:PSMG3 ; biolink:category biolink:Gene . OMIM:617529 a owl:Class ; rdfs:label "FASTKD1" ; IAO:0000142 PMID:11347906, PMID:20869947 ; - oboInOwl:hasDbXref UMLS:C1825279 ; oboInOwl:hasExactSynonym "FASTKD1", "fast kinase domain-containing protein 1", "fast kinase domains 1", "kiaa1800" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79675 ; - skos:exactMatch HGNC_symbol:FASTKD1 ; + skos:exactMatch UMLS:C1825279, + HGNC:26150, + HGNC_symbol:FASTKD1 ; biolink:category biolink:Gene . OMIM:617530 a owl:Class ; rdfs:label "FASTKD3" ; IAO:0000142 PMID:20869947, PMID:27789713 ; - oboInOwl:hasDbXref UMLS:C1825281 ; oboInOwl:hasExactSynonym "FASTKD3", "fast kinase domain-containing protein 3", "fast kinase domains 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79072 ; - skos:exactMatch HGNC_symbol:FASTKD3 ; + skos:exactMatch UMLS:C1825281, + HGNC:28758, + HGNC_symbol:FASTKD3 ; biolink:category biolink:Gene . OMIM:617531 a owl:Class ; @@ -354431,14 +369628,15 @@ OMIM:617531 a owl:Class ; PMID:30412317 ; RO:0002525 CHR:9606chr19p13.11 ; RO:0003303 OMIM:618360 ; - oboInOwl:hasDbXref UMLS:C1539578 ; oboInOwl:hasExactSynonym "COLGALT1", "collagen beta(1-o)galactosyltransferase 1", "glycosyltransferase 25 family, member 1", "hydroxylysine galactosyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79709 ; - skos:exactMatch HGNC_symbol:COLGALT1 ; + skos:exactMatch UMLS:C1539578, + HGNC:26182, + HGNC_symbol:COLGALT1 ; biolink:category biolink:Gene . OMIM:617533 a owl:Class ; @@ -354447,7 +369645,6 @@ OMIM:617533 a owl:Class ; PMID:19075007, PMID:27402836, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1539579 ; oboInOwl:hasExactSynonym "COLGALT2", "collagen beta(1-o)galactosyltransferase 2", "glycosyltransferase 25 family, member 2", @@ -354455,18 +369652,21 @@ OMIM:617533 a owl:Class ; "kiaa0584" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23127 ; - skos:exactMatch HGNC_symbol:COLGALT2 ; + skos:exactMatch UMLS:C1539579, + HGNC:16790, + HGNC_symbol:COLGALT2 ; biolink:category biolink:Gene . OMIM:617534 a owl:Class ; rdfs:label "YIPF4" ; IAO:0000142 PMID:26235900 ; - oboInOwl:hasDbXref UMLS:C1823889 ; oboInOwl:hasExactSynonym "YIPF4", "yip1 domain family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84272 ; - skos:exactMatch HGNC_symbol:YIPF4 ; + skos:exactMatch UMLS:C1823889, + HGNC:28145, + HGNC_symbol:YIPF4 ; biolink:category biolink:Gene . OMIM:617535 a owl:Class ; @@ -354474,25 +369674,27 @@ OMIM:617535 a owl:Class ; IAO:0000142 PMID:10075978, PMID:20693673, PMID:26866272 ; - oboInOwl:hasDbXref UMLS:C1425722 ; oboInOwl:hasExactSynonym "FAIM", "faim1", "fas apoptotic inhibitory molecule" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55179 ; - skos:exactMatch HGNC_symbol:FAIM ; + skos:exactMatch UMLS:C1425722, + HGNC:18703, + HGNC_symbol:FAIM ; biolink:category biolink:Gene . OMIM:617536 a owl:Class ; rdfs:label "BAIAP2L2" ; IAO:0000142 PMID:21743456 ; - oboInOwl:hasDbXref UMLS:C1538315 ; oboInOwl:hasExactSynonym "BAIAP2L2", "bai1-associated protein 2-like 2", "planar intestine- and kidney-specific bar domain protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80115 ; - skos:exactMatch HGNC_symbol:BAIAP2L2 ; + skos:exactMatch UMLS:C1538315, + HGNC:26203, + HGNC_symbol:BAIAP2L2 ; biolink:category biolink:Gene . OMIM:617538 a owl:Class ; @@ -354503,7 +369705,6 @@ OMIM:617538 a owl:Class ; PMID:28331068 ; RO:0002525 CHR:9606chr15q25.2 ; RO:0003303 OMIM:617941 ; - oboInOwl:hasDbXref UMLS:C1539335 ; oboInOwl:hasExactSynonym "EFL1", "elongation factor tu gtp-binding domain-containing 1", "elongation factor-like gtpase 1", @@ -354511,7 +369712,9 @@ OMIM:617538 a owl:Class ; "ribosome assembly 1 homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79631 ; - skos:exactMatch HGNC_symbol:EFL1 ; + skos:exactMatch UMLS:C1539335, + HGNC:25789, + HGNC_symbol:EFL1 ; biolink:category biolink:Gene . OMIM:617539 a owl:Class ; @@ -354522,76 +369725,81 @@ OMIM:617539 a owl:Class ; PMID:30157172 ; RO:0002525 CHR:9606chr1p13.3 ; RO:0003303 OMIM:609913 ; - oboInOwl:hasDbXref UMLS:C1824741, - UMLS:C1835927 ; oboInOwl:hasExactSynonym "CLCC1", "chloride channel clic-like 1", "mid1-related chloride channel 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23155 ; - skos:exactMatch HGNC_symbol:CLCC1 ; + skos:exactMatch UMLS:C1824741, + UMLS:C1835927, + HGNC:29675, + HGNC_symbol:CLCC1 ; biolink:category biolink:Gene . OMIM:617541 a owl:Class ; rdfs:label "ANKZF1" ; IAO:0000142 PMID:28302725 ; - oboInOwl:hasDbXref UMLS:C1823698 ; oboInOwl:hasExactSynonym "ANKZF1", "ankyrin repeat- and zinc finger domain-containing 1", "zinc finger protein 744" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55139 ; - skos:exactMatch HGNC_symbol:ANKZF1 ; + skos:exactMatch UMLS:C1823698, + HGNC:25527, + HGNC_symbol:ANKZF1 ; biolink:category biolink:Gene . OMIM:617542 a owl:Class ; rdfs:label "gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development" ; IAO:0000142 PMID:28250456 ; - oboInOwl:hasDbXref UMLS:C4479640 ; oboInOwl:hasExactSynonym "HGPPS2", "developmental split-brain syndrome", "gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development" ; rdfs:subClassOf OMIMPS:607313 ; + skos:exactMatch UMLS:C4479640 ; biolink:category biolink:Disease . OMIM:617543 a owl:Class ; rdfs:label "PCGF3" ; IAO:0000142 PMID:23523425, PMID:28596365 ; - oboInOwl:hasDbXref UMLS:C1538599 ; oboInOwl:hasExactSynonym "PCGF3", "polycomb group ring finger protein 3", "ring finger protein 3", "rnf3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10336 ; - skos:exactMatch HGNC_symbol:PCGF3 ; + skos:exactMatch UMLS:C1538599, + HGNC:10066, + HGNC_symbol:PCGF3 ; biolink:category biolink:Gene . OMIM:617544 a owl:Class ; rdfs:label "LINC00672" ; IAO:0000142 PMID:28232485 ; - oboInOwl:hasDbXref UMLS:C3540281 ; oboInOwl:hasExactSynonym "LINC00672", "lincrna 672", "long intergenic noncoding RNA 672" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100505576 ; - skos:exactMatch HGNC_symbol:LINC00672 ; + skos:exactMatch UMLS:C3540281, + HGNC:44353, + HGNC_symbol:LINC00672 ; biolink:category biolink:Gene . OMIM:617545 a owl:Class ; rdfs:label "MCMDC2" ; IAO:0000142 PMID:27760146, PMID:27986806 ; - oboInOwl:hasDbXref UMLS:C3470944 ; oboInOwl:hasExactSynonym "MCMDC2", "chromosome 8 open reading frame 45", "mcm domain-containing protein 2", "minichromosome maintenance domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157777 ; - skos:exactMatch HGNC_symbol:MCMDC2 ; + skos:exactMatch UMLS:C3470944, + HGNC:26368, + HGNC_symbol:MCMDC2 ; biolink:category biolink:Gene . OMIM:617546 a owl:Class ; @@ -354600,7 +369808,6 @@ OMIM:617546 a owl:Class ; PMID:15071116, PMID:15375612, PMID:16644143 ; - oboInOwl:hasDbXref UMLS:C2681564 ; oboInOwl:hasExactSynonym "HELT", "helt bhlh transcription factor", "hes-like transcription factor", @@ -354608,7 +369815,9 @@ OMIM:617546 a owl:Class ; "megane basic helix-loop-helix factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391723 ; - skos:exactMatch HGNC_symbol:HELT ; + skos:exactMatch UMLS:C2681564, + HGNC:33783, + HGNC_symbol:HELT ; biolink:category biolink:Gene . OMIM:617547 a owl:Class ; @@ -354618,9 +369827,9 @@ OMIM:617547 a owl:Class ; PMID:26294103, PMID:26992781, PMID:27548899 ; - oboInOwl:hasDbXref UMLS:C4479651 ; oboInOwl:hasExactSynonym "RDMS", "retinal dystrophy with or without macular staphyloma" ; + skos:exactMatch UMLS:C4479651 ; biolink:category biolink:Disease . OMIM:617548 a owl:Class ; @@ -354630,14 +369839,15 @@ OMIM:617548 a owl:Class ; PMID:1686187, PMID:23139753, PMID:30814735 ; - oboInOwl:hasDbXref UMLS:C1710643 ; oboInOwl:hasExactSynonym "WFDC2", "human epididymis protein 4", "wap 4-disulfide core domain 2", "wap5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10406 ; - skos:exactMatch HGNC_symbol:WFDC2 ; + skos:exactMatch UMLS:C1710643, + HGNC:15939, + HGNC_symbol:WFDC2 ; biolink:category biolink:Gene . OMIM:617549 a owl:Class ; @@ -354646,7 +369856,6 @@ OMIM:617549 a owl:Class ; PMID:19934309, PMID:22750142, PMID:24713655 ; - oboInOwl:hasDbXref UMLS:C1540040 ; oboInOwl:hasExactSynonym "TP53INP2", "chromosome 20 open reading frame 110", "diabetes- and obesity-regulated gene", @@ -354654,20 +369863,23 @@ OMIM:617549 a owl:Class ; "tumor protein p53-inducible nuclear protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58476 ; - skos:exactMatch HGNC_symbol:TP53INP2 ; + skos:exactMatch UMLS:C1540040, + HGNC:16104, + HGNC_symbol:TP53INP2 ; biolink:category biolink:Gene . OMIM:617550 a owl:Class ; rdfs:label "PSMG4" ; IAO:0000142 PMID:17707236 ; - oboInOwl:hasDbXref UMLS:C2239864 ; oboInOwl:hasExactSynonym "PSMG4", "chromosome 6 open reading frame 86", "pac4", "proteasome assembly chaperone 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389362 ; - skos:exactMatch HGNC_symbol:PSMG4 ; + skos:exactMatch UMLS:C2239864, + HGNC:21108, + HGNC_symbol:PSMG4 ; biolink:category biolink:Gene . OMIM:617551 a owl:Class ; @@ -354676,12 +369888,13 @@ OMIM:617551 a owl:Class ; PMID:20965152, PMID:27046251, PMID:27987306 ; - oboInOwl:hasDbXref UMLS:C1539770 ; oboInOwl:hasExactSynonym "SIDT2", "sid1 transmembrane family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51092 ; - skos:exactMatch HGNC_symbol:SIDT2 ; + skos:exactMatch UMLS:C1539770, + HGNC:24272, + HGNC_symbol:SIDT2 ; biolink:category biolink:Gene . OMIM:617552 a owl:Class ; @@ -354690,65 +369903,70 @@ OMIM:617552 a owl:Class ; PMID:15133129, PMID:23661635, PMID:24399467 ; - oboInOwl:hasDbXref UMLS:C3146479 ; oboInOwl:hasExactSynonym "ARHGEF26", "rho guanine nucleotide exchange factor 26", "sh3 domain-containing guanine nucleotide exchange factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26084 ; - skos:exactMatch HGNC_symbol:ARHGEF26 ; + skos:exactMatch UMLS:C3146479, + HGNC:24490, + HGNC_symbol:ARHGEF26 ; biolink:category biolink:Gene . OMIM:617553 a owl:Class ; rdfs:label "FCGBP" ; IAO:0000142 PMID:19432394, PMID:9182547 ; - oboInOwl:hasDbXref UMLS:C1422071 ; oboInOwl:hasExactSynonym "FCGBP", "fc fragment of igg-binding protein", "fc-gamma-bp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8857 ; - skos:exactMatch HGNC_symbol:FCGBP ; + skos:exactMatch UMLS:C1422071, + HGNC:13572, + HGNC_symbol:FCGBP ; biolink:category biolink:Gene . OMIM:617554 a owl:Class ; rdfs:label "FGD3" ; IAO:0000142 PMID:10721717 ; - oboInOwl:hasDbXref UMLS:C1423920 ; oboInOwl:hasExactSynonym "FGD3", "fyve, rhogef, and ph domain-containing protein 3", "zinc finger fyve domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89846 ; - skos:exactMatch HGNC_symbol:FGD3 ; + skos:exactMatch UMLS:C1423920, + HGNC:16027, + HGNC_symbol:FGD3 ; biolink:category biolink:Gene . OMIM:617555 a owl:Class ; rdfs:label "FCHSD1" ; IAO:0000142 PMID:14980202, PMID:15067381 ; - oboInOwl:hasDbXref UMLS:C1539509 ; oboInOwl:hasExactSynonym "FCHSD1", "fch and double sh3 domains protein 1", "nervous wreck, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89848 ; - skos:exactMatch HGNC_symbol:FCHSD1 ; + skos:exactMatch UMLS:C1539509, + HGNC:25463, + HGNC_symbol:FCHSD1 ; biolink:category biolink:Gene . OMIM:617556 a owl:Class ; rdfs:label "FCHSD2" ; IAO:0000142 PMID:15067381, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1539510 ; oboInOwl:hasExactSynonym "FCHSD2", "fch and double sh3 domains protein 2", "kiaa0769", "nervous wreck, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9873 ; - skos:exactMatch HGNC_symbol:FCHSD2 ; + skos:exactMatch UMLS:C1539510, + HGNC:29114, + HGNC_symbol:FCHSD2 ; biolink:category biolink:Gene . OMIM:617558 a owl:Class ; @@ -354759,16 +369977,17 @@ OMIM:617558 a owl:Class ; PMID:31004071 ; RO:0002525 CHR:9606chr10q25.1 ; RO:0003303 OMIM:617592 ; - oboInOwl:hasDbXref UMLS:C1538396, - UMLS:C4539818, - UMLS:C5231392 ; oboInOwl:hasExactSynonym "CFAP43", "chromosome 10 open reading frame 79", "cilia- and flagella-associated protein 43", "wd repeat-containing protein 96" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80217 ; - skos:exactMatch HGNC_symbol:CFAP43 ; + skos:exactMatch UMLS:C1538396, + UMLS:C4539818, + UMLS:C5231392, + HGNC:26684, + HGNC_symbol:CFAP43 ; biolink:category biolink:Gene . OMIM:617559 a owl:Class ; @@ -354778,13 +369997,14 @@ OMIM:617559 a owl:Class ; PMID:29449551 ; RO:0002525 CHR:9606chr3q13.2 ; RO:0003303 OMIM:617593 ; - oboInOwl:hasDbXref UMLS:C1538097 ; oboInOwl:hasExactSynonym "CFAP44", "cilia- and flagella-associated protein 44", "wd repeat-containing protein 52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55779 ; - skos:exactMatch HGNC_symbol:CFAP44 ; + skos:exactMatch UMLS:C1538097, + HGNC:25631, + HGNC_symbol:CFAP44 ; biolink:category biolink:Gene . OMIM:617562 a owl:Class ; @@ -354792,48 +370012,51 @@ OMIM:617562 a owl:Class ; IAO:0000142 PMID:22698544, PMID:26123494, PMID:26595381 ; - oboInOwl:hasDbXref UMLS:C4539714, - UMLS:C4539715 ; oboInOwl:hasExactSynonym "MKS13", "joubert syndrome 29", "meckel syndrome 13" ; rdfs:subClassOf OMIMPS:213300, OMIMPS:249000 ; + skos:exactMatch UMLS:C4539714, + UMLS:C4539715 ; biolink:category biolink:Disease . OMIM:617566 a owl:Class ; rdfs:label "ZNF568" ; IAO:0000142 PMID:28522536 ; - oboInOwl:hasDbXref UMLS:C1428479 ; oboInOwl:hasExactSynonym "ZNF568", "zfp568", "zinc finger protein 568" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374900 ; - skos:exactMatch HGNC_symbol:ZNF568 ; + skos:exactMatch UMLS:C1428479, + HGNC:25392, + HGNC_symbol:ZNF568 ; biolink:category biolink:Gene . OMIM:617567 a owl:Class ; rdfs:label "TPD52L3" ; IAO:0000142 PMID:16631610 ; - oboInOwl:hasDbXref UMLS:C1823467 ; oboInOwl:hasExactSynonym "TPD52L3", "d55", "tumor protein d52-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89882 ; - skos:exactMatch HGNC_symbol:TPD52L3 ; + skos:exactMatch UMLS:C1823467, + HGNC:23382, + HGNC_symbol:TPD52L3 ; biolink:category biolink:Gene . OMIM:617568 a owl:Class ; rdfs:label "USF3" ; IAO:0000142 PMID:28011713 ; - oboInOwl:hasDbXref UMLS:C4085399 ; oboInOwl:hasExactSynonym "USF3", "upstream transcription factor family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:205717 ; - skos:exactMatch HGNC_symbol:USF3 ; + skos:exactMatch UMLS:C4085399, + HGNC:30494, + HGNC_symbol:USF3 ; biolink:category biolink:Gene . OMIM:617569 a owl:Class ; @@ -354843,7 +370066,6 @@ OMIM:617569 a owl:Class ; PMID:24419385, PMID:24659801, PMID:27091450 ; - oboInOwl:hasDbXref UMLS:C1537483 ; oboInOwl:hasExactSynonym "KIF15", "kinesin family, member 15", "kinesin-like 7", @@ -354851,7 +370073,9 @@ OMIM:617569 a owl:Class ; "ny-br-62" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56992 ; - skos:exactMatch HGNC_symbol:KIF15 ; + skos:exactMatch UMLS:C1537483, + HGNC:17273, + HGNC_symbol:KIF15 ; biolink:category biolink:Gene . OMIM:617570 a owl:Class ; @@ -354859,53 +370083,54 @@ OMIM:617570 a owl:Class ; IAO:0000142 PMID:28530676 ; RO:0002525 CHR:9606chr3q22.3 ; RO:0003303 OMIM:617610 ; - oboInOwl:hasDbXref UMLS:C1539324 ; oboInOwl:hasExactSynonym "DZIP1L", "daz-interacting zinc finger protein 1-like", "daz-interacting zinc finger protein 2", "dzip1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199221 ; - skos:exactMatch HGNC_symbol:DZIP1L ; + skos:exactMatch UMLS:C1539324, + HGNC:26551, + HGNC_symbol:DZIP1L ; biolink:category biolink:Gene . OMIM:617572 a owl:Class ; rdfs:label "exudative vitreoretinopathy 7" ; IAO:0000142 PMID:28575650 ; - oboInOwl:hasDbXref UMLS:C4539767 ; oboInOwl:hasExactSynonym "EVR7", "exudative vitreoretinopathy 7" ; rdfs:subClassOf OMIMPS:133780 ; + skos:exactMatch UMLS:C4539767 ; biolink:category biolink:Disease . OMIM:617573 a owl:Class ; rdfs:label "CLEC12B" ; IAO:0000142 PMID:17562706, PMID:24091439 ; - oboInOwl:hasDbXref UMLS:C2239303 ; oboInOwl:hasExactSynonym "CLEC12B", "c-type lectin domain family 12, member B", "macrophage antigen h" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387837 ; - skos:exactMatch HGNC_symbol:CLEC12B ; + skos:exactMatch UMLS:C2239303, + HGNC:31966, + HGNC_symbol:CLEC12B ; biolink:category biolink:Gene . OMIM:617577 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 37" ; IAO:0000142 PMID:25927852 ; - oboInOwl:hasDbXref UMLS:C4539798 ; oboInOwl:hasExactSynonym "CILD37", "ciliary dyskinesia, primary, 37", "ciliary dyskinesia, primary, 37, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4539798 ; biolink:category biolink:Disease . OMIM:617578 a owl:Class ; rdfs:label "FERD3L" ; IAO:0000142 PMID:11472856, PMID:12217327 ; - oboInOwl:hasDbXref UMLS:C1424474 ; oboInOwl:hasExactSynonym "FERD3L", "basic helix-loop-helix family, member a31", "fer3, drosophila, homolog of", @@ -354915,7 +370140,9 @@ OMIM:617578 a owl:Class ; "pancreas-specific transcription factor B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222894 ; - skos:exactMatch HGNC_symbol:FERD3L ; + skos:exactMatch UMLS:C1424474, + HGNC:16660, + HGNC_symbol:FERD3L ; biolink:category biolink:Gene . OMIM:617579 a owl:Class ; @@ -354927,33 +370154,34 @@ OMIM:617579 a owl:Class ; PMID:28771254 ; RO:0002525 CHR:9606chr13q32.1 ; RO:0003303 OMIM:617671 ; - oboInOwl:hasDbXref UMLS:C1413461 ; oboInOwl:hasExactSynonym "CLDN10", "claudin 10", "clostridium perfringens enterotoxin receptor-like 3", "oligodendrocyte-specific protein-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9071 ; - skos:exactMatch HGNC_symbol:CLDN10 ; + skos:exactMatch UMLS:C1413461, + HGNC:2033, + HGNC_symbol:CLDN10 ; biolink:category biolink:Gene . OMIM:617580 a owl:Class ; rdfs:label "TSPAN16" ; IAO:0000142 PMID:10500248 ; - oboInOwl:hasDbXref UMLS:C1540096 ; oboInOwl:hasExactSynonym "TSPAN16", "tetraspanin 16", "tm4b", "transmembrane 4 superfamily, member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26526 ; - skos:exactMatch HGNC_symbol:TSPAN16 ; + skos:exactMatch UMLS:C1540096, + HGNC:30725, + HGNC_symbol:TSPAN16 ; biolink:category biolink:Gene . OMIM:617581 a owl:Class ; rdfs:label "C2CD2" ; IAO:0000142 PMID:15289880 ; - oboInOwl:hasDbXref UMLS:C2240246 ; oboInOwl:hasExactSynonym "C2CD2", "c2 calcium-dependent domain-containing protein 2", "chromosome 21 open reading frame 25", @@ -354961,21 +370189,24 @@ OMIM:617581 a owl:Class ; "transmembrane protein 24-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25966 ; - skos:exactMatch HGNC_symbol:C2CD2 ; + skos:exactMatch UMLS:C2240246, + HGNC:1266, + HGNC_symbol:C2CD2 ; biolink:category biolink:Gene . OMIM:617582 a owl:Class ; rdfs:label "C2CD2L" ; IAO:0000142 PMID:15289880, PMID:28209843 ; - oboInOwl:hasDbXref UMLS:C1428768 ; oboInOwl:hasExactSynonym "C2CD2L", "c2 calcium-dependent domain-containing protein 2-like", "c2cd2-like", "transmembrane protein 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9854 ; - skos:exactMatch HGNC_symbol:C2CD2L ; + skos:exactMatch UMLS:C1428768, + HGNC:29000, + HGNC_symbol:C2CD2L ; biolink:category biolink:Gene . OMIM:617583 a owl:Class ; @@ -354983,14 +370214,15 @@ OMIM:617583 a owl:Class ; IAO:0000142 PMID:15448164, PMID:18579529, PMID:22086924 ; - oboInOwl:hasDbXref UMLS:C1823127 ; oboInOwl:hasExactSynonym "SRXN1", "srx", "srx1", "sulfiredoxin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140809 ; - skos:exactMatch HGNC_symbol:SRXN1 ; + skos:exactMatch UMLS:C1823127, + HGNC:16132, + HGNC_symbol:SRXN1 ; biolink:category biolink:Gene . OMIM:617586 a owl:Class ; @@ -354998,7 +370230,6 @@ OMIM:617586 a owl:Class ; IAO:0000142 PMID:12351724, PMID:12771149, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1424298 ; oboInOwl:hasExactSynonym "FARP2", "ferm domain-including rho guanine nucleotide exchange factor", "ferm, arhgef, and pleckstrin domains-containing protein 2", @@ -355007,120 +370238,129 @@ OMIM:617586 a owl:Class ; "pleckstrin homology domain-containing protein, family c, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9855 ; - skos:exactMatch HGNC_symbol:FARP2 ; + skos:exactMatch UMLS:C1424298, + HGNC:16460, + HGNC_symbol:FARP2 ; biolink:category biolink:Gene . OMIM:617587 a owl:Class ; rdfs:label "SPRR2D" ; - oboInOwl:hasDbXref UMLS:C1420377 ; oboInOwl:hasExactSynonym "SPRR2D", "small proline-rich protein 2d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6703 ; - skos:exactMatch HGNC_symbol:SPRR2D ; + skos:exactMatch UMLS:C1420377, + HGNC:11264, + HGNC_symbol:SPRR2D ; biolink:category biolink:Gene . OMIM:617588 a owl:Class ; rdfs:label "SPRR2E" ; - oboInOwl:hasDbXref UMLS:C1420378 ; oboInOwl:hasExactSynonym "SPRR2E", "small proline-rich protein 2e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6704 ; - skos:exactMatch HGNC_symbol:SPRR2E ; + skos:exactMatch UMLS:C1420378, + HGNC:11265, + HGNC_symbol:SPRR2E ; biolink:category biolink:Gene . OMIM:617589 a owl:Class ; rdfs:label "SPRR2F" ; - oboInOwl:hasDbXref UMLS:C1420379 ; oboInOwl:hasExactSynonym "SPRR2F", "small proline-rich protein 2f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6705 ; - skos:exactMatch HGNC_symbol:SPRR2F ; + skos:exactMatch UMLS:C1420379, + HGNC:11266, + HGNC_symbol:SPRR2F ; biolink:category biolink:Gene . OMIM:617590 a owl:Class ; rdfs:label "SPRR2G" ; - oboInOwl:hasDbXref UMLS:C1420380 ; oboInOwl:hasExactSynonym "SPRR2G", "small proline-rich protein 2g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6706 ; - skos:exactMatch HGNC_symbol:SPRR2G ; + skos:exactMatch UMLS:C1420380, + HGNC:11267, + HGNC_symbol:SPRR2G ; biolink:category biolink:Gene . OMIM:617594 a owl:Class ; rdfs:label "JHY" ; IAO:0000142 PMID:23906841 ; - oboInOwl:hasDbXref UMLS:C1824329 ; oboInOwl:hasExactSynonym "JHY", "chromosome 11 open reading frame 63", "jhy, mouse, homolog of", "junctional cadherin complex regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79864 ; - skos:exactMatch HGNC_symbol:JHY ; + skos:exactMatch UMLS:C1824329, + HGNC:26288, + HGNC_symbol:JHY ; biolink:category biolink:Gene . OMIM:617597 a owl:Class ; rdfs:label "RETSAT" ; IAO:0000142 PMID:15358783, PMID:19139408 ; - oboInOwl:hasDbXref UMLS:C1826796 ; oboInOwl:hasExactSynonym "RETSAT", "retinol saturase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54884 ; - skos:exactMatch HGNC_symbol:RETSAT ; + skos:exactMatch UMLS:C1826796, + HGNC:25991, + HGNC_symbol:RETSAT ; biolink:category biolink:Gene . OMIM:617598 a owl:Class ; rdfs:label "mosaic variegated aneuploidy syndrome 3" ; IAO:0000142 PMID:28553959 ; - oboInOwl:hasDbXref UMLS:C4539839 ; oboInOwl:hasExactSynonym "MVA3", "mosaic variegated aneuploidy syndrome 3" ; rdfs:subClassOf OMIMPS:257300 ; + skos:exactMatch UMLS:C4539839 ; biolink:category biolink:Disease . OMIM:617602 a owl:Class ; rdfs:label "congenital heart defects and skeletal malformations syndrome" ; IAO:0000142 PMID:28288113 ; - oboInOwl:hasDbXref UMLS:C4539857 ; oboInOwl:hasExactSynonym "CHDSKM", "congenital heart defects and skeletal malformations syndrome" ; + skos:exactMatch UMLS:C4539857 ; biolink:category biolink:Disease . OMIM:617603 a owl:Class ; rdfs:label "RBM24" ; IAO:0000142 PMID:24356969, PMID:26844700 ; - oboInOwl:hasDbXref UMLS:C1538790 ; oboInOwl:hasExactSynonym "RBM24", "rna-binding motif protein 24", "rna-binding region-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221662 ; - skos:exactMatch HGNC_symbol:RBM24 ; + skos:exactMatch UMLS:C1538790, + HGNC:21539, + HGNC_symbol:RBM24 ; biolink:category biolink:Gene . OMIM:617604 a owl:Class ; rdfs:label "microcephaly, short stature, and limb abnormalities" ; IAO:0000142 PMID:28191891, PMID:8434992 ; - oboInOwl:hasDbXref UMLS:C4539873 ; oboInOwl:hasExactSynonym "MISSLA", "microcephaly, short stature, and limb abnormalities" ; + skos:exactMatch UMLS:C4539873 ; biolink:category biolink:Disease . OMIM:617605 a owl:Class ; rdfs:label "deafness, autosomal dominant 71" ; IAO:0000142 PMID:27657680 ; - oboInOwl:hasDbXref UMLS:C4539881 ; oboInOwl:hasExactSynonym "DFNA71", "deafness, autosomal dominant 71" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4539881 ; biolink:category biolink:Disease . OMIM:617608 a owl:Class ; @@ -355131,7 +370371,6 @@ OMIM:617608 a owl:Class ; PMID:27106955 ; RO:0002525 CHR:9606chr15q25.3 ; RO:0003303 OMIM:618052 ; - oboInOwl:hasDbXref UMLS:C1538267 ; oboInOwl:hasExactSynonym "ALPK3", "alpha kinase 3", "kiaa1330", @@ -355139,21 +370378,24 @@ OMIM:617608 a owl:Class ; "myocyte induction/differentiation originator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57538 ; - skos:exactMatch HGNC_symbol:ALPK3 ; + skos:exactMatch UMLS:C1538267, + HGNC:17574, + HGNC_symbol:ALPK3 ; biolink:category biolink:Gene . OMIM:617611 a owl:Class ; rdfs:label "PIMREG" ; IAO:0000142 PMID:18757745, PMID:28667270 ; - oboInOwl:hasDbXref UMLS:C1825121 ; oboInOwl:hasExactSynonym "PIMREG", "family with sequence similarity 64, member a", "picalm-interacting mitotic regulator", "regulator of chromosome segregation 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54478 ; - skos:exactMatch HGNC_symbol:PIMREG ; + skos:exactMatch UMLS:C1825121, + HGNC:25483, + HGNC_symbol:PIMREG ; biolink:category biolink:Gene . OMIM:617612 a owl:Class ; @@ -355163,44 +370405,46 @@ OMIM:617612 a owl:Class ; PMID:32453716 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:617622 ; - oboInOwl:hasDbXref UMLS:C1824218 ; oboInOwl:hasExactSynonym "ARMC9", "armadillo repeat-containing protein 9", "kiaa1868" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80210 ; - skos:exactMatch HGNC_symbol:ARMC9 ; + skos:exactMatch UMLS:C1824218, + HGNC:20730, + HGNC_symbol:ARMC9 ; biolink:category biolink:Gene . OMIM:617614 a owl:Class ; rdfs:label "SPOUT1" ; IAO:0000142 PMID:25657325 ; - oboInOwl:hasDbXref UMLS:C1428634 ; oboInOwl:hasExactSynonym "SPOUT1", "centromere protein 32", "chromosome 9 open reading frame 114", "spout domain-containing methyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51490 ; - skos:exactMatch HGNC_symbol:SPOUT1 ; + skos:exactMatch UMLS:C1428634, + HGNC:26933, + HGNC_symbol:SPOUT1 ; biolink:category biolink:Gene . OMIM:617615 a owl:Class ; rdfs:label "TMEM258" ; IAO:0000142 PMID:12427278 ; - oboInOwl:hasDbXref UMLS:C3540116 ; oboInOwl:hasExactSynonym "TMEM258", "chromosome 11 open reading frame 10", "transmembrane protein 258" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:746 ; - skos:exactMatch HGNC_symbol:TMEM258 ; + skos:exactMatch UMLS:C3540116, + HGNC:1164, + HGNC_symbol:TMEM258 ; biolink:category biolink:Gene . OMIM:617617 a owl:Class ; rdfs:label "SPRY4IT1" ; IAO:0000142 PMID:21558391 ; - oboInOwl:hasDbXref UMLS:C3273862 ; oboInOwl:hasExactSynonym "SPRY4IT1", "lncrna spry4it1", "long noncoding RNA spry4it1", @@ -355208,7 +370452,9 @@ OMIM:617617 a owl:Class ; "spry4 intronic transcript 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100642175 ; - skos:exactMatch HGNC_symbol:SPRY4-IT1 ; + skos:exactMatch UMLS:C3273862, + HGNC:42394, + HGNC_symbol:SPRY4-IT1 ; biolink:category biolink:Gene . OMIM:617618 a owl:Class ; @@ -355218,7 +370464,6 @@ OMIM:617618 a owl:Class ; PMID:32747439 ; RO:0002525 CHR:9606chr14q21.2 ; RO:0003303 OMIM:619185 ; - oboInOwl:hasDbXref UMLS:C4321218 ; oboInOwl:hasExactSynonym "TOGARAM1", "crescerin 1", "family with sequence similarity 179, member B", @@ -355226,7 +370471,9 @@ OMIM:617618 a owl:Class ; "tog array regulator of axonemal microtubules 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23116 ; - skos:exactMatch HGNC_symbol:TOGARAM1 ; + skos:exactMatch UMLS:C4321218, + HGNC:19959, + HGNC_symbol:TOGARAM1 ; biolink:category biolink:Gene . OMIM:617619 a owl:Class ; @@ -355239,28 +370486,30 @@ OMIM:617619 a owl:Class ; PMID:9144213 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:617675 ; - oboInOwl:hasDbXref UMLS:C1826310, - UMLS:C4540596, - UMLS:C4540597 ; oboInOwl:hasExactSynonym "MSTO1", "misato 1, mitochondrial distribution and morphology regulator", "misato, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55154 ; - skos:exactMatch HGNC_symbol:MSTO1 ; + skos:exactMatch UMLS:C1826310, + UMLS:C4540596, + UMLS:C4540597, + HGNC:29678, + HGNC_symbol:MSTO1 ; biolink:category biolink:Gene . OMIM:617620 a owl:Class ; rdfs:label "LRRC3" ; IAO:0000142 PMID:12036297 ; - oboInOwl:hasDbXref UMLS:C1423093 ; oboInOwl:hasExactSynonym "LRRC3", "chromosome 21 open reading frame 102", "chromosome 21 open reading frame 30", "leucine-rich repeat-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81543 ; - skos:exactMatch HGNC_symbol:LRRC3 ; + skos:exactMatch UMLS:C1423093, + HGNC:14965, + HGNC_symbol:LRRC3 ; biolink:category biolink:Gene . OMIM:617621 a owl:Class ; @@ -355268,8 +370517,6 @@ OMIM:617621 a owl:Class ; IAO:0000142 PMID:22862948, PMID:24573656, PMID:28542722 ; - oboInOwl:hasDbXref UMLS:C1422075, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "PAXBP1", "chromosome 21 open reading frame 66", "gc-rich sequence dna-binding factor 1", @@ -355278,13 +370525,15 @@ OMIM:617621 a owl:Class ; "pax3/7bp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:94104 ; - skos:exactMatch HGNC_symbol:PAXBP1 ; + skos:exactMatch UMLS:C1422075, + UMLS:C2986382, + HGNC:13579, + HGNC_symbol:PAXBP1 ; biolink:category biolink:Gene . OMIM:617623 a owl:Class ; rdfs:label "SPDYE1" ; IAO:0000142 PMID:22763696 ; - oboInOwl:hasDbXref UMLS:C1424256 ; oboInOwl:hasExactSynonym "SPDYE1", "rapid inducer of g2/m progression 1n oocytes 1", "spdye", @@ -355293,48 +370542,51 @@ OMIM:617623 a owl:Class ; "wbscr19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285955 ; - skos:exactMatch HGNC_symbol:SPDYE1 ; + skos:exactMatch UMLS:C1424256, + HGNC:16408, + HGNC_symbol:SPDYE1 ; biolink:category biolink:Gene . OMIM:617624 a owl:Class ; rdfs:label "SPDYE2" ; IAO:0000142 PMID:22763696 ; - oboInOwl:hasDbXref UMLS:C2680438 ; oboInOwl:hasExactSynonym "SPDYE2", "speedy b2-like 1", "speedy/ringo cell cycle regulator family, member e2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441273 ; - skos:exactMatch HGNC_symbol:SPDYE2 ; + skos:exactMatch UMLS:C2680438, + HGNC:33841, + HGNC_symbol:SPDYE2 ; biolink:category biolink:Gene . OMIM:617625 a owl:Class ; rdfs:label "SPDYE3" ; IAO:0000142 PMID:22763696 ; - oboInOwl:hasDbXref UMLS:C2680439 ; oboInOwl:hasExactSynonym "SPDYE3", "speedy b2", "speedy/ringo cell cycle regulator family, member e3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441272 ; - skos:exactMatch HGNC_symbol:SPDYE3 ; + skos:exactMatch UMLS:C2680439, + HGNC:35462, + HGNC_symbol:SPDYE3 ; biolink:category biolink:Gene . OMIM:617626 a owl:Class ; rdfs:label "fibromatosis, gingival, 5" ; IAO:0000142 PMID:28686854 ; - oboInOwl:hasDbXref UMLS:C4539942 ; oboInOwl:hasExactSynonym "GINGF5", "fibromatosis, gingival, 5", "fibromatosis, gingival, hereditary, 5", "ggf5" ; rdfs:subClassOf OMIMPS:135300 ; + skos:exactMatch UMLS:C4539942 ; biolink:category biolink:Disease . OMIM:617627 a owl:Class ; rdfs:label "SPAAR" ; IAO:0000142 PMID:28024296 ; - oboInOwl:hasDbXref UMLS:C4320351 ; oboInOwl:hasExactSynonym "SPAAR", "lincrna 961", "long intergenic noncoding RNA 961", @@ -355342,19 +370594,22 @@ OMIM:617627 a owl:Class ; "spar" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158376 ; - skos:exactMatch HGNC_symbol:SPAAR ; + skos:exactMatch UMLS:C4320351, + HGNC:27244, + HGNC_symbol:SPAAR ; biolink:category biolink:Gene . OMIM:617628 a owl:Class ; rdfs:label "SPDYE4" ; IAO:0000142 PMID:22763696 ; - oboInOwl:hasDbXref UMLS:C2680440 ; oboInOwl:hasExactSynonym "SPDYE4", "speedy b1", "speedy/ringo cell cycle regulator family, member e4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388333 ; - skos:exactMatch HGNC_symbol:SPDYE4 ; + skos:exactMatch UMLS:C2680440, + HGNC:35463, + HGNC_symbol:SPDYE4 ; biolink:category biolink:Gene . OMIM:617630 a owl:Class ; @@ -355365,13 +370620,14 @@ OMIM:617630 a owl:Class ; PMID:27072655, PMID:28688853, PMID:9539149 ; - oboInOwl:hasDbXref UMLS:C1423057 ; oboInOwl:hasExactSynonym "GPR37L1", "endothelin iia B receptor-like protein 2", "g protein-coupled receptor 37-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9283 ; - skos:exactMatch HGNC_symbol:GPR37L1 ; + skos:exactMatch UMLS:C1423057, + HGNC:14923, + HGNC_symbol:GPR37L1 ; biolink:category biolink:Gene . OMIM:617631 a owl:Class ; @@ -355382,123 +370638,133 @@ OMIM:617631 a owl:Class ; PMID:31549751 ; RO:0002525 CHR:9606chr7p22.3 ; RO:0003303 OMIM:617642 ; - oboInOwl:hasDbXref UMLS:C1537413, - UMLS:C4539976 ; oboInOwl:hasExactSynonym "IQCE", "iq domain-containing protein e", "kiaa1023" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23288 ; - skos:exactMatch HGNC_symbol:IQCE ; + skos:exactMatch UMLS:C1537413, + UMLS:C4539976, + HGNC:29171, + HGNC_symbol:IQCE ; biolink:category biolink:Gene . OMIM:617632 a owl:Class ; rdfs:label "EFCAB7" ; IAO:0000142 PMID:11347906, PMID:24582806 ; - oboInOwl:hasDbXref UMLS:C2239371 ; oboInOwl:hasExactSynonym "EFCAB7", "ef-hand calcium-binding domain-containing protein 7", "kiaa1799" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84455 ; - skos:exactMatch HGNC_symbol:EFCAB7 ; + skos:exactMatch UMLS:C2239371, + HGNC:29379, + HGNC_symbol:EFCAB7 ; biolink:category biolink:Gene . OMIM:617634 a owl:Class ; rdfs:label "CCER2" ; IAO:0000142 PMID:27717682 ; - oboInOwl:hasDbXref UMLS:C3813056 ; oboInOwl:hasExactSynonym "CCER2", "coiled-coil glutamate-rich protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643669 ; - skos:exactMatch HGNC_symbol:CCER2 ; + skos:exactMatch UMLS:C3813056, + HGNC:44662, + HGNC_symbol:CCER2 ; biolink:category biolink:Gene . OMIM:617636 a owl:Class ; rdfs:label "GPR1AS" ; IAO:0000142 PMID:23764515 ; - oboInOwl:hasDbXref UMLS:C3811017 ; oboInOwl:hasExactSynonym "GPR1AS", "g protein-coupled receptor 1, antisense RNA", "gpr1 antisense RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101669764 ; + skos:exactMatch UMLS:C3811017, + HGNC:48602, + HGNC_symbol:CMKLR2-AS ; biolink:category biolink:Gene . OMIM:617640 a owl:Class ; rdfs:label "ST7L" ; IAO:0000142 PMID:12012006, PMID:12063568 ; - oboInOwl:hasDbXref UMLS:C1425517 ; oboInOwl:hasExactSynonym "ST7L", "st7-related protein", "suppressor of tumorigenicity 7-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54879 ; - skos:exactMatch HGNC_symbol:ST7L ; + skos:exactMatch UMLS:C1425517, + HGNC:18441, + HGNC_symbol:ST7L ; biolink:category biolink:Gene . OMIM:617643 a owl:Class ; rdfs:label "cerebellar atrophy, developmental delay, and seizures" ; IAO:0000142 PMID:27567911, PMID:29545233 ; - oboInOwl:hasDbXref UMLS:C4539985 ; oboInOwl:hasExactSynonym "CADEDS", "cerebellar atrophy, developmental delay, and seizures" ; + skos:exactMatch UMLS:C4539985 ; biolink:category biolink:Disease . OMIM:617645 a owl:Class ; rdfs:label "KBTBD4" ; IAO:0000142 PMID:11042152, PMID:23349464 ; - oboInOwl:hasDbXref UMLS:C1428245 ; oboInOwl:hasExactSynonym "KBTBD4", "bklhd4", "hematopoietic stem/progenitor cell-expressed gene 252", "kelch repeat- and btb/poz domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55709 ; - skos:exactMatch HGNC_symbol:KBTBD4 ; + skos:exactMatch UMLS:C1428245, + HGNC:23761, + HGNC_symbol:KBTBD4 ; biolink:category biolink:Gene . OMIM:617646 a owl:Class ; rdfs:label "BAHCC1" ; IAO:0000142 PMID:10819331 ; - oboInOwl:hasDbXref UMLS:C1825861 ; oboInOwl:hasExactSynonym "BAHCC1", "bah domain- and coiled-coil domain-containing protein 1", "bromo adjacent homology domain-containing protein 2", "kiaa1447" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57597 ; - skos:exactMatch HGNC_symbol:BAHCC1 ; + skos:exactMatch UMLS:C1825861, + HGNC:29279, + HGNC_symbol:BAHCC1 ; biolink:category biolink:Gene . OMIM:617647 a owl:Class ; rdfs:label "PCAT18" ; IAO:0000142 PMID:24519926 ; - oboInOwl:hasDbXref UMLS:C3812532 ; oboInOwl:hasExactSynonym "PCAT18", "lincrna 1092", "long intergenic noncoding RNA 1092", "prostate cancer-associated transcript 18, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728606 ; - skos:exactMatch HGNC_symbol:PCAT18 ; + skos:exactMatch UMLS:C3812532, + HGNC:49211, + HGNC_symbol:PCAT18 ; biolink:category biolink:Gene . OMIM:617648 a owl:Class ; rdfs:label "BMP2K" ; IAO:0000142 PMID:11500515 ; - oboInOwl:hasDbXref UMLS:C1425261 ; oboInOwl:hasExactSynonym "BMP2K", "bike", "bmp2-inducible kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55589 ; - skos:exactMatch HGNC_symbol:BMP2K ; + skos:exactMatch UMLS:C1425261, + HGNC:18041, + HGNC_symbol:BMP2K ; biolink:category biolink:Gene . OMIM:617649 a owl:Class ; @@ -355510,19 +370776,19 @@ OMIM:617649 a owl:Class ; PMID:28774900, PMID:28774922, PMID:31699823 ; - oboInOwl:hasDbXref UMLS:C1823570 ; oboInOwl:hasExactSynonym "UBE2O", "kiaa1734", "ubiquitin-conjugating enzyme e2, 230-kd", "ubiquitin-conjugating enzyme e2o" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63893 ; - skos:exactMatch HGNC_symbol:UBE2O ; + skos:exactMatch UMLS:C1823570, + HGNC:29554, + HGNC_symbol:UBE2O ; biolink:category biolink:Gene . OMIM:617650 a owl:Class ; rdfs:label "PACERR" ; - oboInOwl:hasDbXref UMLS:C3890506 ; oboInOwl:hasExactSynonym "PACERR", "lnrna pacerr", "long noncoding RNA pacerr", @@ -355531,24 +370797,25 @@ OMIM:617650 a owl:Class ; "ptgs2 antisense nfkb1 complex-mediated expression regulator rna, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:103752588 ; - skos:exactMatch HGNC_symbol:PACERR ; + skos:exactMatch UMLS:C3890506, + HGNC:50552, + HGNC_symbol:PACERR ; biolink:category biolink:Gene . OMIM:617651 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:28792927 ; - oboInOwl:hasDbXref UMLS:C4539996 ; oboInOwl:hasExactSynonym "emiceri", "eqtn, mob3b, ifnk, and c9orf72 enhancer RNA i, noncoding", "lncrna emiceri", "long noncoding RNA emiceri" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C4539996 ; biolink:category biolink:Gene . OMIM:617652 a owl:Class ; rdfs:label "MOB3B" ; IAO:0000142 PMID:28792927 ; - oboInOwl:hasDbXref UMLS:C1428282 ; oboInOwl:hasExactSynonym "MOB3B", "chromosome 9 open reading frame 35", "mob kinase activator 3b", @@ -355556,7 +370823,9 @@ OMIM:617652 a owl:Class ; "mob1 domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79817 ; - skos:exactMatch HGNC_symbol:MOB3B ; + skos:exactMatch UMLS:C1428282, + HGNC:23825, + HGNC_symbol:MOB3B ; biolink:category biolink:Gene . OMIM:617653 a owl:Class ; @@ -355564,7 +370833,6 @@ OMIM:617653 a owl:Class ; IAO:0000142 PMID:11118625, PMID:16831425, PMID:28792927 ; - oboInOwl:hasDbXref UMLS:C1413030 ; oboInOwl:hasExactSynonym "EQTN", "acrosome formation-associated factor", "chromosome 9 open reading frame 11", @@ -355572,7 +370840,9 @@ OMIM:617653 a owl:Class ; "sperm acrosome-associated protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54586 ; - skos:exactMatch HGNC_symbol:EQTN ; + skos:exactMatch UMLS:C1413030, + HGNC:1359, + HGNC_symbol:EQTN ; biolink:category biolink:Gene . OMIM:617655 a owl:Class ; @@ -355580,7 +370850,6 @@ OMIM:617655 a owl:Class ; IAO:0000142 PMID:10231032, PMID:15777640, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1426376 ; oboInOwl:hasExactSynonym "PCNX1", "kiaa0805", "kiaa0995", @@ -355588,33 +370857,37 @@ OMIM:617655 a owl:Class ; "pecanex, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22990 ; - skos:exactMatch HGNC_symbol:PCNX1 ; + skos:exactMatch UMLS:C1426376, + HGNC:19740, + HGNC_symbol:PCNX1 ; biolink:category biolink:Gene . OMIM:617656 a owl:Class ; rdfs:label "PCNX2" ; IAO:0000142 PMID:15777640, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1418381 ; oboInOwl:hasExactSynonym "PCNX2", "kiaa0435", "pecanex 2", "pecanex, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80003 ; - skos:exactMatch HGNC_symbol:PCNX2 ; + skos:exactMatch UMLS:C1418381, + HGNC:8736, + HGNC_symbol:PCNX2 ; biolink:category biolink:Gene . OMIM:617657 a owl:Class ; rdfs:label "PCNX3" ; IAO:0000142 PMID:15777640 ; - oboInOwl:hasDbXref UMLS:C1425765 ; oboInOwl:hasExactSynonym "PCNX3", "pecanex 3", "pecanex, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399909 ; - skos:exactMatch HGNC_symbol:PCNX3 ; + skos:exactMatch UMLS:C1425765, + HGNC:18760, + HGNC_symbol:PCNX3 ; biolink:category biolink:Gene . OMIM:617658 a owl:Class ; @@ -355625,14 +370898,15 @@ OMIM:617658 a owl:Class ; PMID:32160317 ; RO:0002525 CHR:9606chr15q21.1 ; RO:0003303 OMIM:619221 ; - oboInOwl:hasDbXref UMLS:C1426907 ; oboInOwl:hasExactSynonym "SQOR", "sqr", "sulfide dehydrogenase-like", "sulfide:quinone oxidoreductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58472 ; - skos:exactMatch HGNC_symbol:SQOR ; + skos:exactMatch UMLS:C1426907, + HGNC:20390, + HGNC_symbol:SQOR ; biolink:category biolink:Gene . OMIM:617659 a owl:Class ; @@ -355641,21 +370915,22 @@ OMIM:617659 a owl:Class ; PMID:28757203 ; RO:0002525 CHR:9606chr11q13.4 ; RO:0003303 OMIM:617668 ; - oboInOwl:hasDbXref UMLS:C2829636 ; oboInOwl:hasExactSynonym "LIPT2", "lipoyl(octanoyl) transferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387787 ; - skos:exactMatch HGNC_symbol:LIPT2 ; + skos:exactMatch UMLS:C2829636, + HGNC:37216, + HGNC_symbol:LIPT2 ; biolink:category biolink:Gene . OMIM:617663 a owl:Class ; rdfs:label "deafness, autosomal dominant 73" ; IAO:0000142 PMID:29309402 ; - oboInOwl:hasDbXref UMLS:C4540024 ; oboInOwl:hasExactSynonym "DFNA73", "deafness, autosomal dominant 73" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4540024 ; biolink:category biolink:Disease . OMIM:617670 a owl:Class ; @@ -355665,12 +370940,13 @@ OMIM:617670 a owl:Class ; PMID:28206990 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:617706 ; - oboInOwl:hasDbXref UMLS:C1824426 ; oboInOwl:hasExactSynonym "MEIOB", "meiosis-specific protein with ob domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254528 ; - skos:exactMatch HGNC_symbol:MEIOB ; + skos:exactMatch UMLS:C1824426, + HGNC:28569, + HGNC_symbol:MEIOB ; biolink:category biolink:Gene . OMIM:617673 a owl:Class ; @@ -355678,32 +370954,33 @@ OMIM:617673 a owl:Class ; IAO:0000142 PMID:15713825, PMID:24240703, PMID:28297563 ; - oboInOwl:hasDbXref UMLS:C1823093 ; oboInOwl:hasExactSynonym "SPATA22", "spermatogenesis-associated protein 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84690 ; - skos:exactMatch HGNC_symbol:SPATA22 ; + skos:exactMatch UMLS:C1823093, + HGNC:30705, + HGNC_symbol:SPATA22 ; biolink:category biolink:Gene . OMIM:617674 a owl:Class ; rdfs:label "SERP1" ; IAO:0000142 PMID:10601334, PMID:16705175 ; - oboInOwl:hasDbXref UMLS:C2239922 ; oboInOwl:hasExactSynonym "SERP1", "ribosome-associated membrane protein 4", "stress-associated endoplasmic reticulum protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27230 ; - skos:exactMatch HGNC_symbol:SERP1 ; + skos:exactMatch UMLS:C2239922, + HGNC:10759, + HGNC_symbol:SERP1 ; biolink:category biolink:Gene . OMIM:617676 a owl:Class ; rdfs:label "PSMD3" ; IAO:0000142 PMID:28031328, PMID:9017604 ; - oboInOwl:hasDbXref UMLS:C1419033 ; oboInOwl:hasExactSynonym "PSMD3", "p58", "protease 26s, subunit 3", @@ -355711,22 +370988,23 @@ OMIM:617676 a owl:Class ; "rpn3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5709 ; - skos:exactMatch HGNC_symbol:PSMD3 ; + skos:exactMatch UMLS:C1419033, + HGNC:9560, + HGNC_symbol:PSMD3 ; biolink:category biolink:Gene . OMIM:617677 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:20868680 ; - oboInOwl:hasDbXref UMLS:C4522264 ; oboInOwl:hasExactSynonym "zasp", "zo2-associated speckle protein" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C4522264 ; biolink:category biolink:Gene . OMIM:617678 a owl:Class ; rdfs:label "PCAT2" ; IAO:0000142 PMID:24594601 ; - oboInOwl:hasDbXref UMLS:C3812528 ; oboInOwl:hasExactSynonym "PCAT2", "cancer-associated region long noncoding RNA 4", "lncrna carlo4", @@ -355734,7 +371012,9 @@ OMIM:617678 a owl:Class ; "prostate cancer-associated transcript 2, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:103164619 ; - skos:exactMatch HGNC_symbol:PCAT2 ; + skos:exactMatch UMLS:C3812528, + HGNC:45089, + HGNC_symbol:PCAT2 ; biolink:category biolink:Gene . OMIM:617679 a owl:Class ; @@ -355743,14 +371023,15 @@ OMIM:617679 a owl:Class ; PMID:21888897, PMID:24768539, PMID:26687681 ; - oboInOwl:hasDbXref UMLS:C1537498 ; oboInOwl:hasExactSynonym "KLHL20", "kelch-like 20", "kelch-like ect2-interacting protein", "kelch-like protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27252 ; - skos:exactMatch HGNC_symbol:KLHL20 ; + skos:exactMatch UMLS:C1537498, + HGNC:25056, + HGNC_symbol:KLHL20 ; biolink:category biolink:Gene . OMIM:617680 a owl:Class ; @@ -355758,51 +371039,55 @@ OMIM:617680 a owl:Class ; IAO:0000142 PMID:15659578, PMID:20818333, PMID:24149858 ; - oboInOwl:hasDbXref UMLS:C1823129 ; oboInOwl:hasExactSynonym "RNA polymerase 2 ctd phosphatase ssu72", "SSU72", "ssu72, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29101 ; - skos:exactMatch HGNC_symbol:SSU72 ; + skos:exactMatch UMLS:C1823129, + HGNC:25016, + HGNC_symbol:SSU72 ; biolink:category biolink:Gene . OMIM:617683 a owl:Class ; rdfs:label "EGFLAM" ; IAO:0000142 PMID:18641643, PMID:21129441 ; - oboInOwl:hasDbXref UMLS:C1825037 ; oboInOwl:hasExactSynonym "EGFLAM", "agrin-like protein", "egf-like, fibronectin iia iii, and laminin g domains-containing protein", "pikachurin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133584 ; - skos:exactMatch HGNC_symbol:EGFLAM ; + skos:exactMatch UMLS:C1825037, + HGNC:26810, + HGNC_symbol:EGFLAM ; biolink:category biolink:Gene . OMIM:617684 a owl:Class ; rdfs:label "LYAR" ; IAO:0000142 PMID:25092918, PMID:8491376 ; - oboInOwl:hasDbXref UMLS:C2239661 ; oboInOwl:hasExactSynonym "LYAR", "ly1 antibody-reactive protein", "ly1 antibody-reactive protein, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55646 ; - skos:exactMatch HGNC_symbol:LYAR ; + skos:exactMatch UMLS:C2239661, + HGNC:26021, + HGNC_symbol:LYAR ; biolink:category biolink:Gene . OMIM:617685 a owl:Class ; rdfs:label "CDH26" ; IAO:0000142 PMID:28051089 ; - oboInOwl:hasDbXref UMLS:C1423820 ; oboInOwl:hasExactSynonym "CDH26", "cadherin 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60437 ; - skos:exactMatch HGNC_symbol:CDH26 ; + skos:exactMatch UMLS:C1423820, + HGNC:15902, + HGNC_symbol:CDH26 ; biolink:category biolink:Gene . OMIM:617686 a owl:Class ; @@ -355816,10 +371101,10 @@ OMIM:617686 a owl:Class ; PMID:9589663, PMID:9589667, PMID:9851782 ; - oboInOwl:hasDbXref UMLS:C4540135 ; oboInOwl:hasExactSynonym "PITA3", "pituitary adenoma 3, multiple types" ; rdfs:subClassOf OMIMPS:102200 ; + skos:exactMatch UMLS:C4540135 ; biolink:category biolink:Disease . OMIM:617687 a owl:Class ; @@ -355830,12 +371115,13 @@ OMIM:617687 a owl:Class ; PMID:28823707 ; RO:0002525 CHR:9606chr3q12.1-q12.2 ; RO:0003303 OMIM:617695 ; - oboInOwl:hasDbXref UMLS:C1823244 ; oboInOwl:hasExactSynonym "TBC1D23", "tbc1 domain family, member 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55773 ; - skos:exactMatch HGNC_symbol:TBC1D23 ; + skos:exactMatch UMLS:C1823244, + HGNC:25622, + HGNC_symbol:TBC1D23 ; biolink:category biolink:Gene . OMIM:617688 a owl:Class ; @@ -355843,14 +371129,15 @@ OMIM:617688 a owl:Class ; IAO:0000142 PMID:18027867, PMID:22766399, PMID:23902727 ; - oboInOwl:hasDbXref UMLS:C2829992 ; oboInOwl:hasExactSynonym "PARM1", "castration-induced prostatic apoptosis-related protein 1", "prostate androgen-regulated mucin-like protein 1", "prostatic androgen-repressed message 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25849 ; - skos:exactMatch HGNC_symbol:PARM1 ; + skos:exactMatch UMLS:C2829992, + HGNC:24536, + HGNC_symbol:PARM1 ; biolink:category biolink:Gene . OMIM:617689 a owl:Class ; @@ -355858,65 +371145,67 @@ OMIM:617689 a owl:Class ; IAO:0000142 PMID:12767259, PMID:18227514, PMID:8573167 ; - oboInOwl:hasDbXref UMLS:C1824804 ; oboInOwl:hasExactSynonym "CSDC2", "cold-shock domain-containing protein c2", "pippin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27254 ; - skos:exactMatch HGNC_symbol:CSDC2 ; + skos:exactMatch UMLS:C1824804, + HGNC:30359, + HGNC_symbol:CSDC2 ; biolink:category biolink:Gene . OMIM:617690 a owl:Class ; rdfs:label "ovarian dysgenesis 5" ; IAO:0000142 PMID:17301727, PMID:25774885 ; - oboInOwl:hasDbXref UMLS:C4540141 ; oboInOwl:hasExactSynonym "ODG5", "ovarian dysgenesis 5" ; rdfs:subClassOf OMIMPS:233300 ; + skos:exactMatch UMLS:C4540141 ; biolink:category biolink:Disease . OMIM:617691 a owl:Class ; rdfs:label "spinocerebellar ataxia 44" ; IAO:0000142 PMID:28886343 ; - oboInOwl:hasDbXref UMLS:C4521563 ; oboInOwl:hasExactSynonym "SCA44", "spinocerebellar ataxia 44" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C4521563 ; biolink:category biolink:Disease . OMIM:617692 a owl:Class ; rdfs:label "PRDM15" ; IAO:0000142 PMID:15904895, PMID:28740264 ; - oboInOwl:hasDbXref UMLS:C1422336 ; oboInOwl:hasExactSynonym "PRDM15", "pr domain-containing protein 15", "pr/set domain protein 15", "zinc finger protein 298" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63977 ; - skos:exactMatch HGNC_symbol:PRDM15 ; + skos:exactMatch UMLS:C1422336, + HGNC:13999, + HGNC_symbol:PRDM15 ; biolink:category biolink:Gene . OMIM:617693 a owl:Class ; rdfs:label "VIT" ; IAO:0000142 PMID:10830112, PMID:21989018 ; - oboInOwl:hasDbXref UMLS:C1421454 ; oboInOwl:hasExactSynonym "VIT", "vit1", "vitrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5212 ; - skos:exactMatch HGNC_symbol:VIT ; + skos:exactMatch UMLS:C1421454, + HGNC:12697, + HGNC_symbol:VIT ; biolink:category biolink:Gene . OMIM:617696 a owl:Class ; rdfs:label "LINC01488" ; IAO:0000142 PMID:28777932 ; - oboInOwl:hasDbXref UMLS:C3891516 ; oboInOwl:hasExactSynonym "LINC01488", "breast cancer-associated transcript 8", "ccnd1 upstream intergenic DNA repair 1, noncoding", @@ -355924,13 +371213,14 @@ OMIM:617696 a owl:Class ; "long intergenic noncoding RNA 1488" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101928292 ; - skos:exactMatch HGNC_symbol:LINC01488 ; + skos:exactMatch UMLS:C3891516, + HGNC:51144, + HGNC_symbol:LINC01488 ; biolink:category biolink:Gene . OMIM:617697 a owl:Class ; rdfs:label "LINC02747" ; IAO:0000142 PMID:28777932 ; - oboInOwl:hasDbXref UMLS:C4540170 ; oboInOwl:hasExactSynonym "LINC02747", "ccnd1 upstream intergenic DNA repair 2, noncoding", "lincrna cupid2", @@ -355938,14 +371228,15 @@ OMIM:617697 a owl:Class ; "long intergenic noncoding RNA cupid2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105379407 ; - skos:exactMatch HGNC_symbol:LINC02747 ; + skos:exactMatch UMLS:C4540170, + HGNC:54266, + HGNC_symbol:LINC02747 ; biolink:category biolink:Gene . OMIM:617699 a owl:Class ; rdfs:label "GID4" ; IAO:0000142 PMID:18508925, PMID:28126757 ; - oboInOwl:hasDbXref UMLS:C3539395 ; oboInOwl:hasExactSynonym "GID4", "chromosome 17 open reading frame 39", "gid complex, subunit 4", @@ -355953,26 +371244,28 @@ OMIM:617699 a owl:Class ; "vacuolar import and degradation protein 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79018 ; - skos:exactMatch HGNC_symbol:GID4 ; + skos:exactMatch UMLS:C3539395, + HGNC:28453, + HGNC_symbol:GID4 ; biolink:category biolink:Gene . OMIM:617700 a owl:Class ; rdfs:label "UBE2F" ; IAO:0000142 PMID:19250909, PMID:27591266 ; - oboInOwl:hasDbXref UMLS:C1421279 ; oboInOwl:hasExactSynonym "UBE2F", "nedd8-conjugating enzyme 2", "ubiquitin-conjugating enzyme e2f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140739 ; - skos:exactMatch HGNC_symbol:UBE2F ; + skos:exactMatch UMLS:C1421279, + HGNC:12480, + HGNC_symbol:UBE2F ; biolink:category biolink:Gene . OMIM:617701 a owl:Class ; rdfs:label "CASC8" ; IAO:0000142 PMID:24594601 ; - oboInOwl:hasDbXref UMLS:C3811552 ; oboInOwl:hasExactSynonym "CASC8", "cancer susceptibility candidate 8, noncoding", "cancer-associated region long noncoding RNA 1", @@ -355980,13 +371273,14 @@ OMIM:617701 a owl:Class ; "long intergenic noncoding RNA 860" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:727677 ; - skos:exactMatch HGNC_symbol:CASC8 ; + skos:exactMatch UMLS:C3811552, + HGNC:45129, + HGNC_symbol:CASC8 ; biolink:category biolink:Gene . OMIM:617702 a owl:Class ; rdfs:label "CASC21" ; IAO:0000142 PMID:24594601 ; - oboInOwl:hasDbXref UMLS:C3813048 ; oboInOwl:hasExactSynonym "CASC21", "cancer susceptibility candidate 21, noncoding", "cancer-associated region long noncoding RNA 2", @@ -355994,13 +371288,14 @@ OMIM:617702 a owl:Class ; "long intergenic noncoding RNA 1244" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:103021164 ; - skos:exactMatch HGNC_symbol:CASC21 ; + skos:exactMatch UMLS:C3813048, + HGNC:49836, + HGNC_symbol:CASC21 ; biolink:category biolink:Gene . OMIM:617703 a owl:Class ; rdfs:label "CASC19" ; IAO:0000142 PMID:24594601 ; - oboInOwl:hasDbXref UMLS:C3813046 ; oboInOwl:hasExactSynonym "CASC19", "cancer susceptibility candidate 19, noncoding", "cancer-associated region long noncoding RNA 6", @@ -356008,13 +371303,14 @@ OMIM:617703 a owl:Class ; "long intergenic noncoding RNA 1245" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:103021165 ; - skos:exactMatch HGNC_symbol:CASC19 ; + skos:exactMatch UMLS:C3813046, + HGNC:49476, + HGNC_symbol:CASC19 ; biolink:category biolink:Gene . OMIM:617704 a owl:Class ; rdfs:label "CASC11" ; IAO:0000142 PMID:24594601 ; - oboInOwl:hasDbXref UMLS:C3811554 ; oboInOwl:hasExactSynonym "CASC11", "cancer susceptibility candidate 11, noncoding", "cancer-associated region long noncoding RNA 7", @@ -356022,20 +371318,23 @@ OMIM:617704 a owl:Class ; "long intergenic noncoding RNA 990" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100270680 ; - skos:exactMatch HGNC_symbol:CASC11 ; + skos:exactMatch UMLS:C3811554, + HGNC:48939, + HGNC_symbol:CASC11 ; biolink:category biolink:Gene . OMIM:617705 a owl:Class ; rdfs:label "CCAT1" ; IAO:0000142 PMID:24594601 ; - oboInOwl:hasDbXref UMLS:C3542813 ; oboInOwl:hasExactSynonym "CCAT1", "cancer-associated region long noncoding RNA 5", "colon cancer-associated transcript 1, noncoding", "lncrna carlo5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507056 ; - skos:exactMatch HGNC_symbol:CCAT1 ; + skos:exactMatch UMLS:C3542813, + HGNC:45128, + HGNC_symbol:CCAT1 ; biolink:category biolink:Gene . OMIM:617708 a owl:Class ; @@ -356043,13 +371342,14 @@ OMIM:617708 a owl:Class ; IAO:0000142 PMID:23775072, PMID:8601400, PMID:9683532 ; - oboInOwl:hasDbXref UMLS:C1824684 ; oboInOwl:hasExactSynonym "CDC123", "cell division cycle 123", "d123" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8872 ; - skos:exactMatch HGNC_symbol:CDC123 ; + skos:exactMatch UMLS:C1824684, + HGNC:16827, + HGNC_symbol:CDC123 ; biolink:category biolink:Gene . OMIM:617710 a owl:Class ; @@ -356057,35 +371357,37 @@ OMIM:617710 a owl:Class ; IAO:0000142 PMID:28236339, PMID:28650581, PMID:28905505 ; - oboInOwl:hasDbXref UMLS:C4540192 ; oboInOwl:hasExactSynonym "NEMMLAS", "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" ; + skos:exactMatch UMLS:C4540192 ; biolink:category biolink:Disease . OMIM:617714 a owl:Class ; rdfs:label "CAVIN4" ; IAO:0000142 PMID:18332105 ; - oboInOwl:hasDbXref UMLS:C2681849 ; oboInOwl:hasExactSynonym "CAVIN4", "caveolae-associated protein 4", "muscle-restricted coiled-coil protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347273 ; - skos:exactMatch HGNC_symbol:CAVIN4 ; + skos:exactMatch UMLS:C2681849, + HGNC:33742, + HGNC_symbol:CAVIN4 ; biolink:category biolink:Gene . OMIM:617715 a owl:Class ; rdfs:label "MALRD1" ; IAO:0000142 PMID:19103277, PMID:23747249 ; - oboInOwl:hasDbXref UMLS:C1538412 ; oboInOwl:hasExactSynonym "MALRD1", "chromosome 10 open reading frame 112", "diet1", "mam and ldl receptor class a domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340895 ; - skos:exactMatch HGNC_symbol:MALRD1 ; + skos:exactMatch UMLS:C1538412, + HGNC:24331, + HGNC_symbol:MALRD1 ; biolink:category biolink:Gene . OMIM:617716 a owl:Class ; @@ -356094,7 +371396,6 @@ OMIM:617716 a owl:Class ; PMID:19273615, PMID:28527113, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C3146409 ; oboInOwl:hasExactSynonym "ARHGAP44", "kiaa0672", "rho gtpase-activating protein 44", @@ -356102,35 +371403,39 @@ OMIM:617716 a owl:Class ; "rhogap interacting with cip4 homologs 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9912 ; - skos:exactMatch HGNC_symbol:ARHGAP44 ; + skos:exactMatch UMLS:C3146409, + HGNC:29096, + HGNC_symbol:ARHGAP44 ; biolink:category biolink:Gene . OMIM:617720 a owl:Class ; rdfs:label "PPP1R42" ; IAO:0000142 PMID:18237440, PMID:23718219 ; - oboInOwl:hasDbXref UMLS:C3471440 ; oboInOwl:hasExactSynonym "PPP1R42", "leucine-rich repeat-containing protein 67", "protein phosphatase 1, regulatory subunit 42", "testis leucine-rich repeat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286187 ; - skos:exactMatch HGNC_symbol:PPP1R42 ; + skos:exactMatch UMLS:C3471440, + HGNC:33732, + HGNC_symbol:PPP1R42 ; biolink:category biolink:Gene . OMIM:617722 a owl:Class ; rdfs:label "TXNL4B" ; IAO:0000142 PMID:15161931, PMID:16142897 ; - oboInOwl:hasDbXref UMLS:C1540141 ; oboInOwl:hasExactSynonym "TXNL4B", "dim1-like protein", "dim2", "thioredoxin-like 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54957 ; - skos:exactMatch HGNC_symbol:TXNL4B ; + skos:exactMatch UMLS:C1540141, + HGNC:26041, + HGNC_symbol:TXNL4B ; biolink:category biolink:Gene . OMIM:617723 a owl:Class ; @@ -356139,14 +371444,15 @@ OMIM:617723 a owl:Class ; PMID:26499779, PMID:29875412, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1826943 ; oboInOwl:hasExactSynonym "RRP12", "kiaa0690", "ribosomal rna-processing 12", "ribosomal rna-processing protein 12, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23223 ; - skos:exactMatch HGNC_symbol:RRP12 ; + skos:exactMatch UMLS:C1826943, + HGNC:29100, + HGNC_symbol:RRP12 ; biolink:category biolink:Gene . OMIM:617724 a owl:Class ; @@ -356154,55 +371460,59 @@ OMIM:617724 a owl:Class ; IAO:0000142 PMID:17147695, PMID:27337956, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1540074 ; oboInOwl:hasExactSynonym "TSC22D2", "kiaa0669", "tsc22 domain family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9819 ; - skos:exactMatch HGNC_symbol:TSC22D2 ; + skos:exactMatch UMLS:C1540074, + HGNC:29095, + HGNC_symbol:TSC22D2 ; biolink:category biolink:Gene . OMIM:617725 a owl:Class ; rdfs:label "FUOM" ; IAO:0000142 PMID:17602138, PMID:20609214 ; - oboInOwl:hasDbXref UMLS:C1539006 ; oboInOwl:hasExactSynonym "FUOM", "fucm", "fucose mutarotase", "fucu, e. coli, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:282969 ; - skos:exactMatch HGNC_symbol:FUOM ; + skos:exactMatch UMLS:C1539006, + HGNC:24733, + HGNC_symbol:FUOM ; biolink:category biolink:Gene . OMIM:617726 a owl:Class ; rdfs:label "CARD19" ; IAO:0000142 PMID:15637807, PMID:23633586 ; - oboInOwl:hasDbXref UMLS:C1428675 ; oboInOwl:hasExactSynonym "CARD19", "bcl10-interacting card protein", "caspase recruitment domain-containing protein 19", "chromosome 9 open reading frame 89" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84270 ; - skos:exactMatch HGNC_symbol:CARD19 ; + skos:exactMatch UMLS:C1428675, + HGNC:28148, + HGNC_symbol:CARD19 ; biolink:category biolink:Gene . OMIM:617727 a owl:Class ; rdfs:label "TM9SF4" ; IAO:0000142 PMID:25999474, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C1539978 ; oboInOwl:hasExactSynonym "TM9SF4", "kiaa0255", "phg1a, dictyostelium, homolog of", "transmembrane 9 superfamily, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9777 ; - skos:exactMatch HGNC_symbol:TM9SF4 ; + skos:exactMatch UMLS:C1539978, + HGNC:30797, + HGNC_symbol:TM9SF4 ; biolink:category biolink:Gene . OMIM:617728 a owl:Class ; @@ -356210,52 +371520,56 @@ OMIM:617728 a owl:Class ; IAO:0000142 PMID:11214970, PMID:20844083, PMID:27185865 ; - oboInOwl:hasDbXref UMLS:C3890131 ; oboInOwl:hasExactSynonym "CEP295", "centrosomal protein, 295-kd", "kiaa1731" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85459 ; - skos:exactMatch HGNC_symbol:CEP295 ; + skos:exactMatch UMLS:C3890131, + HGNC:29366, + HGNC_symbol:CEP295 ; biolink:category biolink:Gene . OMIM:617733 a owl:Class ; rdfs:label "ZNF518A" ; IAO:0000142 PMID:25680957, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C1538191 ; oboInOwl:hasExactSynonym "ZNF518A", "kiaa0335", "zinc finger protein 518a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9849 ; - skos:exactMatch HGNC_symbol:ZNF518A ; + skos:exactMatch UMLS:C1538191, + HGNC:29009, + HGNC_symbol:ZNF518A ; biolink:category biolink:Gene . OMIM:617734 a owl:Class ; rdfs:label "ZNF518B" ; IAO:0000142 PMID:11214970, PMID:25680957 ; - oboInOwl:hasDbXref UMLS:C2240211 ; oboInOwl:hasExactSynonym "ZNF518B", "kiaa1729", "zinc finger protein 518b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85460 ; - skos:exactMatch HGNC_symbol:ZNF518B ; + skos:exactMatch UMLS:C2240211, + HGNC:29365, + HGNC_symbol:ZNF518B ; biolink:category biolink:Gene . OMIM:617735 a owl:Class ; rdfs:label "C10ORF90" ; IAO:0000142 PMID:20844083, PMID:24240685 ; - oboInOwl:hasDbXref UMLS:C1428607 ; oboInOwl:hasExactSynonym "C10ORF90", "chromosome 10 open reading frame 90", "fragile site-associated tumor suppressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118611 ; - skos:exactMatch HGNC_symbol:C10orf90 ; + skos:exactMatch UMLS:C1428607, + HGNC:26563, + HGNC_symbol:C10orf90 ; biolink:category biolink:Gene . OMIM:617736 a owl:Class ; @@ -356263,7 +371577,6 @@ OMIM:617736 a owl:Class ; IAO:0000142 PMID:17285308, PMID:22496551, PMID:25822849 ; - oboInOwl:hasDbXref UMLS:C1428334 ; oboInOwl:hasExactSynonym "MORN4", "membrane occupation and recognition nexus protein 4", "morn repeat-containing protein 4", @@ -356271,7 +371584,9 @@ OMIM:617736 a owl:Class ; "undertaker, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118812 ; - skos:exactMatch HGNC_symbol:MORN4 ; + skos:exactMatch UMLS:C1428334, + HGNC:24001, + HGNC_symbol:MORN4 ; biolink:category biolink:Gene . OMIM:617737 a owl:Class ; @@ -356281,75 +371596,81 @@ OMIM:617737 a owl:Class ; PMID:24001144, PMID:26095358, PMID:27836988 ; - oboInOwl:hasDbXref UMLS:C1539792 ; oboInOwl:hasExactSynonym "SMPDL3B", "acid sphingomyelinase-like phosphodiesterase 3b", "asmlpd", "sphingomyelin phosphodiesterase, acid-like, 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27293 ; - skos:exactMatch HGNC_symbol:SMPDL3B ; + skos:exactMatch UMLS:C1539792, + HGNC:21416, + HGNC_symbol:SMPDL3B ; biolink:category biolink:Gene . OMIM:617738 a owl:Class ; rdfs:label "KBTBD6" ; IAO:0000142 PMID:25684205 ; - oboInOwl:hasDbXref UMLS:C1428474 ; oboInOwl:hasExactSynonym "KBTBD6", "kelch repeat- and btb domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89890 ; - skos:exactMatch HGNC_symbol:KBTBD6 ; + skos:exactMatch UMLS:C1428474, + HGNC:25340, + HGNC_symbol:KBTBD6 ; biolink:category biolink:Gene . OMIM:617739 a owl:Class ; rdfs:label "KBTBD7" ; IAO:0000142 PMID:20132730, PMID:25684205 ; - oboInOwl:hasDbXref UMLS:C1428464 ; oboInOwl:hasExactSynonym "KBTBD7", "kelch repeat- and btb domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84078 ; - skos:exactMatch HGNC_symbol:KBTBD7 ; + skos:exactMatch UMLS:C1428464, + HGNC:25266, + HGNC_symbol:KBTBD7 ; biolink:category biolink:Gene . OMIM:617740 a owl:Class ; rdfs:label "VSIG10L" ; IAO:0000142 PMID:27467440 ; - oboInOwl:hasDbXref UMLS:C2829141 ; oboInOwl:hasExactSynonym "VSIG10L", "v-set and immunoglobulin domains-containing protein 10-like", "vsig10-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147645 ; - skos:exactMatch HGNC_symbol:VSIG10L ; + skos:exactMatch UMLS:C2829141, + HGNC:27111, + HGNC_symbol:VSIG10L ; biolink:category biolink:Gene . OMIM:617741 a owl:Class ; rdfs:label "WDR20" ; IAO:0000142 PMID:20147737, PMID:27373336 ; - oboInOwl:hasDbXref UMLS:C1426317 ; oboInOwl:hasExactSynonym "WDR20", "wd repeat-containing protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91833 ; - skos:exactMatch HGNC_symbol:WDR20 ; + skos:exactMatch UMLS:C1426317, + HGNC:19667, + HGNC_symbol:WDR20 ; biolink:category biolink:Gene . OMIM:617742 a owl:Class ; rdfs:label "KANSL3" ; IAO:0000142 PMID:10718198, PMID:28450392 ; - oboInOwl:hasDbXref UMLS:C2239561 ; oboInOwl:hasExactSynonym "KANSL3", "kat8 regulatory nsl complex, subunit 3", "kiaa1310", "nonspecific lethal 3 homolog" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55683 ; - skos:exactMatch HGNC_symbol:KANSL3 ; + skos:exactMatch UMLS:C2239561, + HGNC:25473, + HGNC_symbol:KANSL3 ; biolink:category biolink:Gene . OMIM:617745 a owl:Class ; @@ -356358,50 +371679,54 @@ OMIM:617745 a owl:Class ; PMID:22441875, PMID:29025994, PMID:31117290 ; - oboInOwl:hasDbXref UMLS:C3470954, - UMLS:C4694043 ; oboInOwl:hasExactSynonym "MFSD12", "major facilitator superfamily domain-containing protein 12", "pp3501" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126321 ; - skos:exactMatch HGNC_symbol:MFSD12 ; + skos:exactMatch UMLS:C3470954, + UMLS:C4694043, + HGNC:28299, + HGNC_symbol:MFSD12 ; biolink:category biolink:Gene . OMIM:617747 a owl:Class ; rdfs:label "SP140L" ; IAO:0000142 PMID:26347895 ; - oboInOwl:hasDbXref UMLS:C2680437 ; oboInOwl:hasExactSynonym "SP140L", "nuclear body protein sp140-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93349 ; - skos:exactMatch HGNC_symbol:SP140L ; + skos:exactMatch UMLS:C2680437, + HGNC:25105, + HGNC_symbol:SP140L ; biolink:category biolink:Gene . OMIM:617748 a owl:Class ; rdfs:label "TDRD5" ; IAO:0000142 PMID:21383078 ; - oboInOwl:hasDbXref UMLS:C1427033 ; oboInOwl:hasExactSynonym "TDRD5", "tudor domain-containing protein 5", "tudor3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163589 ; - skos:exactMatch HGNC_symbol:TDRD5 ; + skos:exactMatch UMLS:C1427033, + HGNC:20614, + HGNC_symbol:TDRD5 ; biolink:category biolink:Gene . OMIM:617750 a owl:Class ; rdfs:label "LIMCH1" ; IAO:0000142 PMID:28228547 ; - oboInOwl:hasDbXref UMLS:C2239652 ; oboInOwl:hasExactSynonym "LIMCH1", "lim and calponin homology domains-containing protein 1", "limch1a", "lmo7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22998 ; - skos:exactMatch HGNC_symbol:LIMCH1 ; + skos:exactMatch UMLS:C2239652, + HGNC:29191, + HGNC_symbol:LIMCH1 ; biolink:category biolink:Gene . OMIM:617753 a owl:Class ; @@ -356409,13 +371734,14 @@ OMIM:617753 a owl:Class ; IAO:0000142 PMID:16183636, PMID:21081503, PMID:29875412 ; - oboInOwl:hasDbXref UMLS:C1425683 ; oboInOwl:hasExactSynonym "RIOK1", "rio kinase 1", "rio1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83732 ; - skos:exactMatch HGNC_symbol:RIOK1 ; + skos:exactMatch UMLS:C1425683, + HGNC:18656, + HGNC_symbol:RIOK1 ; biolink:category biolink:Gene . OMIM:617754 a owl:Class ; @@ -356426,31 +371752,32 @@ OMIM:617754 a owl:Class ; PMID:21081503, PMID:21880710, PMID:29875412 ; - oboInOwl:hasDbXref UMLS:C1425941 ; oboInOwl:hasExactSynonym "RIOK2", "rio kinase 2", "rio2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55781 ; - skos:exactMatch HGNC_symbol:RIOK2 ; + skos:exactMatch UMLS:C1425941, + HGNC:18999, + HGNC_symbol:RIOK2 ; biolink:category biolink:Gene . OMIM:617756 a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 5" ; IAO:0000142 PMID:27965375 ; - oboInOwl:hasDbXref UMLS:C4540331 ; oboInOwl:hasExactSynonym "EKVP5", "erythrokeratodermia variabilis et progressiva 5" ; rdfs:subClassOf OMIMPS:133200 ; + skos:exactMatch UMLS:C4540331 ; biolink:category biolink:Disease . OMIM:617757 a owl:Class ; rdfs:label "joubert syndrome 32" ; IAO:0000142 PMID:28965847 ; - oboInOwl:hasDbXref UMLS:C4540342 ; oboInOwl:hasExactSynonym "JBTS32", "joubert syndrome 32" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4540342 ; biolink:category biolink:Disease . OMIM:617758 a owl:Class ; @@ -356458,44 +371785,46 @@ OMIM:617758 a owl:Class ; IAO:0000142 PMID:17097062, PMID:21910974, PMID:28669730 ; - oboInOwl:hasDbXref UMLS:C1823993 ; oboInOwl:hasExactSynonym "ZNF692", "aicar-responsive element-binding protein", "zfp692", "zinc finger protein 692" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55657 ; - skos:exactMatch HGNC_symbol:ZNF692 ; + skos:exactMatch UMLS:C1823993, + HGNC:26049, + HGNC_symbol:ZNF692 ; biolink:category biolink:Gene . OMIM:617759 a owl:Class ; rdfs:label "RPUSD3" ; IAO:0000142 PMID:27974379 ; - oboInOwl:hasDbXref UMLS:C1539699 ; oboInOwl:hasExactSynonym "RNA pseudouridylate synthase domain-containing protein 3", "RPUSD3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285367 ; - skos:exactMatch HGNC_symbol:RPUSD3 ; + skos:exactMatch UMLS:C1539699, + HGNC:28437, + HGNC_symbol:RPUSD3 ; biolink:category biolink:Gene . OMIM:617760 a owl:Class ; rdfs:label "myopathy, centronuclear, 6, with fiber-type disproportion" ; IAO:0000142 PMID:16760198, PMID:27816943 ; - oboInOwl:hasDbXref UMLS:C4540345 ; oboInOwl:hasExactSynonym "CNM6", "myopathy, centronuclear, 6, with fiber-type disproportion" ; rdfs:subClassOf OMIMPS:160150 ; + skos:exactMatch UMLS:C4540345 ; biolink:category biolink:Disease . OMIM:617761 a owl:Class ; rdfs:label "joubert syndrome 31" ; IAO:0000142 PMID:27208211 ; - oboInOwl:hasDbXref UMLS:C4540355 ; oboInOwl:hasExactSynonym "JBTS31", "joubert syndrome 31" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4540355 ; biolink:category biolink:Disease . OMIM:617764 a owl:Class ; @@ -356503,7 +371832,6 @@ OMIM:617764 a owl:Class ; IAO:0000142 PMID:11719588, PMID:17304241, PMID:31273098 ; - oboInOwl:hasDbXref UMLS:C1823940 ; oboInOwl:hasExactSynonym "ZER1", "chromosome 9 open reading frame 60", "zer1, c. elegans, homolog of", @@ -356512,29 +371840,32 @@ OMIM:617764 a owl:Class ; "zyg11b-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10444 ; - skos:exactMatch HGNC_symbol:ZER1 ; + skos:exactMatch UMLS:C1823940, + HGNC:30960, + HGNC_symbol:ZER1 ; biolink:category biolink:Gene . OMIM:617766 a owl:Class ; rdfs:label "FAM192A" ; IAO:0000142 PMID:26497270 ; - oboInOwl:hasDbXref UMLS:C2829371 ; oboInOwl:hasExactSynonym "FAM192A", "chromosome 16 open reading frame 94", "family with sequence similarity 192, member a", "nefa-interacting nuclear protein 30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80011 ; - skos:exactMatch HGNC_symbol:PSME3IP1 ; + skos:exactMatch UMLS:C2829371, + HGNC:29856, + HGNC_symbol:PSME3IP1 ; biolink:category biolink:Gene . OMIM:617772 a owl:Class ; rdfs:label "deafness, autosomal dominant 34, with or without inflammation" ; IAO:0000142 PMID:28847925 ; - oboInOwl:hasDbXref UMLS:C4521680 ; oboInOwl:hasExactSynonym "DFNA34", "deafness, autosomal dominant 34, with or without inflammation" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4521680 ; biolink:category biolink:Disease . OMIM:617774 a owl:Class ; @@ -356542,7 +371873,6 @@ OMIM:617774 a owl:Class ; IAO:0000142 PMID:18281296, PMID:22002062, PMID:26852705 ; - oboInOwl:hasDbXref UMLS:C1825869 ; oboInOwl:hasExactSynonym "LONP2", "lon peptidase 2, peroxisomal", "lon protease 2", @@ -356550,70 +371880,77 @@ OMIM:617774 a owl:Class ; "pslon" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83752 ; - skos:exactMatch HGNC_symbol:LONP2 ; + skos:exactMatch UMLS:C1825869, + HGNC:20598, + HGNC_symbol:LONP2 ; biolink:category biolink:Gene . OMIM:617775 a owl:Class ; rdfs:label "C10ORF99" ; IAO:0000142 PMID:25351403, PMID:25585381 ; - oboInOwl:hasDbXref UMLS:C1538399 ; oboInOwl:hasExactSynonym "C10ORF99", "antimicrobial peptide of 57 amino acids", "chromosome 10 open reading frame 99", "colon-derived susd2-binding factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387695 ; - skos:exactMatch HGNC_symbol:C10orf99 ; + skos:exactMatch UMLS:C1538399, + HGNC:31428, + HGNC_symbol:C10orf99 ; biolink:category biolink:Gene . OMIM:617776 a owl:Class ; rdfs:label "BAGE2" ; IAO:0000142 PMID:12461691 ; - oboInOwl:hasDbXref UMLS:C1423686 ; oboInOwl:hasExactSynonym "B melanoma antigen 2", "BAGE2", "bage family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85319 ; - skos:exactMatch HGNC_symbol:BAGE2 ; + skos:exactMatch UMLS:C1423686, + HGNC:15723, + HGNC_symbol:BAGE2 ; biolink:category biolink:Gene . OMIM:617777 a owl:Class ; rdfs:label "BAGE3" ; IAO:0000142 PMID:12461691 ; - oboInOwl:hasDbXref UMLS:C1423687 ; oboInOwl:hasExactSynonym "B melanoma antigen 3", "BAGE3", "bage family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85318 ; - skos:exactMatch HGNC_symbol:BAGE3 ; + skos:exactMatch UMLS:C1423687, + HGNC:15728, + HGNC_symbol:BAGE3 ; biolink:category biolink:Gene . OMIM:617778 a owl:Class ; rdfs:label "TXNDC15" ; IAO:0000142 PMID:27346357 ; - oboInOwl:hasDbXref UMLS:C1540238 ; oboInOwl:hasExactSynonym "TXNDC15", "bunker gear, drosophila, homolog of", "chromosome 5 open reading fame 14", "thioredoxin domain-containing protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79770 ; - skos:exactMatch HGNC_symbol:TXNDC15 ; + skos:exactMatch UMLS:C1540238, + HGNC:20652, + HGNC_symbol:TXNDC15 ; biolink:category biolink:Gene . OMIM:617779 a owl:Class ; rdfs:label "TMEM256" ; IAO:0000142 PMID:23376485 ; - oboInOwl:hasDbXref UMLS:C1824453 ; oboInOwl:hasExactSynonym "TMEM256", "chromosome 17 open reading frame 61", "transmembrane protein 256" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254863 ; - skos:exactMatch HGNC_symbol:TMEM256 ; + skos:exactMatch UMLS:C1824453, + HGNC:28618, + HGNC_symbol:TMEM256 ; biolink:category biolink:Gene . OMIM:617780 a owl:Class ; @@ -356624,10 +371961,10 @@ OMIM:617780 a owl:Class ; PMID:25633902, PMID:27707659, PMID:32414565 ; - oboInOwl:hasDbXref UMLS:C4540434 ; oboInOwl:hasExactSynonym "CIMAH", "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia", "methylenetetrahydrofolate dehydrogenase 1 deficiency" ; + skos:exactMatch UMLS:C4540434 ; biolink:category biolink:Disease . OMIM:617781 a owl:Class ; @@ -356636,10 +371973,10 @@ OMIM:617781 a owl:Class ; PMID:26216056, PMID:26359340, PMID:26968735 ; - oboInOwl:hasDbXref UMLS:C4540439 ; oboInOwl:hasExactSynonym "RP80", "retinitis pigmentosa 80" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4540439 ; biolink:category biolink:Disease . OMIM:617782 a owl:Class ; @@ -356654,8 +371991,6 @@ OMIM:617782 a owl:Class ; PMID:32585897 ; RO:0002525 CHR:9606chr18q11.1-q11.2 ; RO:0003303 OMIM:617805 ; - oboInOwl:hasDbXref UMLS:C1429058, - UMLS:C4540497 ; oboInOwl:hasExactSynonym "GREB1L", "chromosome 18 open reading frame 6", "greb1-like protein", @@ -356663,28 +371998,32 @@ OMIM:617782 a owl:Class ; "kiaa1772" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80000 ; - skos:exactMatch HGNC_symbol:GREB1L ; + skos:exactMatch UMLS:C1429058, + UMLS:C4540497, + HGNC:31042, + HGNC_symbol:GREB1L ; biolink:category biolink:Gene . OMIM:617783 a owl:Class ; rdfs:label "nephrotic syndrome, iia 16" ; IAO:0000142 PMID:25961457 ; - oboInOwl:hasDbXref UMLS:C4540453 ; oboInOwl:hasExactSynonym "NPHS16", "nephrotic syndrome, iia 16" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C4540453 ; biolink:category biolink:Disease . OMIM:617785 a owl:Class ; rdfs:label "PAPLN" ; IAO:0000142 PMID:11076767 ; - oboInOwl:hasDbXref UMLS:C1426127 ; oboInOwl:hasExactSynonym "PAPLN", "papilin, drosophila, homolog of", "papilin, proteoglycan-like sulfated glycoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89932 ; - skos:exactMatch HGNC_symbol:PAPLN ; + skos:exactMatch UMLS:C1426127, + HGNC:19262, + HGNC_symbol:PAPLN ; biolink:category biolink:Gene . OMIM:617786 a owl:Class ; @@ -356693,7 +372032,6 @@ OMIM:617786 a owl:Class ; PMID:7584026, PMID:7890169, PMID:8590283 ; - oboInOwl:hasDbXref UMLS:C1413201 ; oboInOwl:hasExactSynonym "CCT8", "cct-theta", "chaperonin containing t-complex polypeptide 1, subunit 8", @@ -356701,82 +372039,90 @@ OMIM:617786 a owl:Class ; "kiaa0002" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10694 ; - skos:exactMatch HGNC_symbol:CCT8 ; + skos:exactMatch UMLS:C1413201, + HGNC:1623, + HGNC_symbol:CCT8 ; biolink:category biolink:Gene . OMIM:617789 a owl:Class ; rdfs:label "TXNDC8" ; IAO:0000142 PMID:15181017 ; - oboInOwl:hasDbXref UMLS:C1540134 ; oboInOwl:hasExactSynonym "TXNDC8", "sperm-specific thioredoxin 3", "thioredoxin domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255220 ; - skos:exactMatch HGNC_symbol:TXNDC8 ; + skos:exactMatch UMLS:C1540134, + HGNC:31454, + HGNC_symbol:TXNDC8 ; biolink:category biolink:Gene . OMIM:617790 a owl:Class ; rdfs:label "TXNDC2" ; IAO:0000142 PMID:11399755, PMID:12387870 ; - oboInOwl:hasDbXref UMLS:C1424305 ; oboInOwl:hasExactSynonym "TXNDC2", "sperm-specific thioredoxin 1", "thioredoxin domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84203 ; - skos:exactMatch HGNC_symbol:TXNDC2 ; + skos:exactMatch UMLS:C1424305, + HGNC:16470, + HGNC_symbol:TXNDC2 ; biolink:category biolink:Gene . OMIM:617791 a owl:Class ; rdfs:label "LRRCC1" ; IAO:0000142 PMID:11214970, PMID:18728398 ; - oboInOwl:hasDbXref UMLS:C1825907 ; oboInOwl:hasExactSynonym "LRRCC1", "centrosomal leucine-rich repeat- and coiled-coil domain-containing protein", "kiaa1764", "leucine-rich repeat- and coiled-coil domain-containing centrosomal protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85444 ; - skos:exactMatch HGNC_symbol:LRRCC1 ; + skos:exactMatch UMLS:C1825907, + HGNC:29373, + HGNC_symbol:LRRCC1 ; biolink:category biolink:Gene . OMIM:617792 a owl:Class ; rdfs:label "TXNDC11" ; IAO:0000142 PMID:15561711 ; - oboInOwl:hasDbXref UMLS:C1540137 ; oboInOwl:hasExactSynonym "TXNDC11", "ef-hand-binding protein 1", "thioredoxin domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51061 ; - skos:exactMatch HGNC_symbol:TXNDC11 ; + skos:exactMatch UMLS:C1540137, + HGNC:28030, + HGNC_symbol:TXNDC11 ; biolink:category biolink:Gene . OMIM:617793 a owl:Class ; rdfs:label "EEF1AKMT1" ; IAO:0000142 PMID:26545399 ; - oboInOwl:hasDbXref UMLS:C4084698 ; oboInOwl:hasExactSynonym "EEF1AKMT1", "eef1a lysine methyltransferase 1", "n6 adenine-specific DNA methyltransferase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221143 ; - skos:exactMatch HGNC_symbol:EEF1AKMT1 ; + skos:exactMatch UMLS:C4084698, + HGNC:27351, + HGNC_symbol:EEF1AKMT1 ; biolink:category biolink:Gene . OMIM:617794 a owl:Class ; rdfs:label "EEF1AKMT2" ; IAO:0000142 PMID:25144183 ; - oboInOwl:hasDbXref UMLS:C4320146 ; oboInOwl:hasExactSynonym "EEF1AKMT2", "eef1a lysine methyltransferase 2", "methyltransferase-like 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:399818 ; - skos:exactMatch HGNC_symbol:EEF1AKMT2 ; + skos:exactMatch UMLS:C4320146, + HGNC:33787, + HGNC_symbol:EEF1AKMT2 ; biolink:category biolink:Gene . OMIM:617795 a owl:Class ; @@ -356784,27 +372130,29 @@ OMIM:617795 a owl:Class ; IAO:0000142 PMID:24550272, PMID:27863225, PMID:27863226 ; - oboInOwl:hasDbXref UMLS:C2681300 ; oboInOwl:hasExactSynonym "EPOP", "chromosome 17 open reading frame 96", "elongin bc- and polycomb repressive complex 2-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100170841 ; - skos:exactMatch HGNC_symbol:EPOP ; + skos:exactMatch UMLS:C2681300, + HGNC:34493, + HGNC_symbol:EPOP ; biolink:category biolink:Gene . OMIM:617797 a owl:Class ; rdfs:label "SRMS" ; IAO:0000142 PMID:23822091, PMID:7935409 ; - oboInOwl:hasDbXref UMLS:C1420406 ; oboInOwl:hasExactSynonym "SRMS", "chromosome 20 open reading frame 148", "src-related kinase lacking c-terminal regulatory tyrosine and n-terminal myristylation sites", "srm" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6725 ; - skos:exactMatch HGNC_symbol:SRMS ; + skos:exactMatch UMLS:C1420406, + HGNC:11298, + HGNC_symbol:SRMS ; biolink:category biolink:Gene . OMIM:617801 a owl:Class ; @@ -356815,74 +372163,80 @@ OMIM:617801 a owl:Class ; PMID:24606903, PMID:7962207, PMID:8761950 ; - oboInOwl:hasDbXref UMLS:C4522312 ; oboInOwl:hasExactSynonym "CAP1", "adenylyl cyclase-associated protein 1", "cap", "cyclase-associated actin cytoskeleton regulatory protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10487 ; - skos:exactMatch HGNC_symbol:CAP1 ; + skos:exactMatch UMLS:C4522312, + HGNC:20040, + HGNC_symbol:CAP1 ; biolink:category biolink:Gene . OMIM:617803 a owl:Class ; rdfs:label "TMEM26" ; IAO:0000142 PMID:22986903 ; - oboInOwl:hasDbXref UMLS:C1539995 ; oboInOwl:hasExactSynonym "TMEM26", "transmembrane protein 26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219623 ; - skos:exactMatch HGNC_symbol:TMEM26 ; + skos:exactMatch UMLS:C1539995, + HGNC:28550, + HGNC_symbol:TMEM26 ; biolink:category biolink:Gene . OMIM:617806 a owl:Class ; rdfs:label "TMEM86B" ; IAO:0000142 PMID:21515882 ; - oboInOwl:hasDbXref UMLS:C1823347 ; oboInOwl:hasExactSynonym "TMEM86B", "lysoplasmalogenase", "transmembrane protein 86b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255043 ; - skos:exactMatch HGNC_symbol:TMEM86B ; + skos:exactMatch UMLS:C1823347, + HGNC:28448, + HGNC_symbol:TMEM86B ; biolink:category biolink:Gene . OMIM:617811 a owl:Class ; rdfs:label "SMU1" ; IAO:0000142 PMID:11410362, PMID:24945353 ; - oboInOwl:hasDbXref UMLS:C1539795 ; oboInOwl:hasExactSynonym "DNA replication regulator and spliceosomal factor smu1", "SMU1", "brain-enriched wd-repeat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55234 ; - skos:exactMatch HGNC_symbol:SMU1 ; + skos:exactMatch UMLS:C1539795, + HGNC:18247, + HGNC_symbol:SMU1 ; biolink:category biolink:Gene . OMIM:617812 a owl:Class ; rdfs:label "SLC35G2" ; IAO:0000142 PMID:19148500 ; - oboInOwl:hasDbXref UMLS:C3469827 ; oboInOwl:hasExactSynonym "SLC35G2", "solute carrier family 35, member g2", "transmembrane protein 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80723 ; - skos:exactMatch HGNC_symbol:SLC35G2 ; + skos:exactMatch UMLS:C3469827, + HGNC:28480, + HGNC_symbol:SLC35G2 ; biolink:category biolink:Gene . OMIM:617813 a owl:Class ; rdfs:label "TMEM88" ; IAO:0000142 PMID:21044957, PMID:23924634 ; - oboInOwl:hasDbXref UMLS:C1823350 ; oboInOwl:hasExactSynonym "TMEM88", "transmembrane protein 88" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92162 ; - skos:exactMatch HGNC_symbol:TMEM88 ; + skos:exactMatch UMLS:C1823350, + HGNC:32371, + HGNC_symbol:TMEM88 ; biolink:category biolink:Gene . OMIM:617814 a owl:Class ; @@ -356890,26 +372244,28 @@ OMIM:617814 a owl:Class ; IAO:0000142 PMID:24391514, PMID:26385321, PMID:32393636 ; - oboInOwl:hasDbXref UMLS:C1823356 ; oboInOwl:hasExactSynonym "TMEM95", "transmembrane protein 95" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339168 ; - skos:exactMatch HGNC_symbol:TMEM95 ; + skos:exactMatch UMLS:C1823356, + HGNC:27898, + HGNC_symbol:TMEM95 ; biolink:category biolink:Gene . OMIM:617815 a owl:Class ; rdfs:label "POLR3E" ; IAO:0000142 PMID:10521666, PMID:10819331 ; - oboInOwl:hasDbXref UMLS:C1538698 ; oboInOwl:hasExactSynonym "POLR3E", "kiaa1452", "polymerase iii, rna, subunit e", "sxl interactor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55718 ; - skos:exactMatch HGNC_symbol:POLR3E ; + skos:exactMatch UMLS:C1538698, + HGNC:30347, + HGNC_symbol:POLR3E ; biolink:category biolink:Gene . OMIM:617817 a owl:Class ; @@ -356919,9 +372275,6 @@ OMIM:617817 a owl:Class ; PMID:9566967 ; RO:0002525 CHR:9606chr10q26.3 ; RO:0003303 OMIM:618737 ; - oboInOwl:hasDbXref UMLS:C1425637, - UMLS:C5231486, - UMLS:C5231550 ; oboInOwl:hasExactSynonym "TUBGCP2", "alp4, s. cerevisiae, homolog of", "gamma ring complex protein, 103-kd", @@ -356930,7 +372283,11 @@ OMIM:617817 a owl:Class ; "tubulin-gamma complex-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10844 ; - skos:exactMatch HGNC_symbol:TUBGCP2 ; + skos:exactMatch UMLS:C1425637, + UMLS:C5231486, + UMLS:C5231550, + HGNC:18599, + HGNC_symbol:TUBGCP2 ; biolink:category biolink:Gene . OMIM:617818 a owl:Class ; @@ -356938,7 +372295,6 @@ OMIM:617818 a owl:Class ; IAO:0000142 PMID:23886939, PMID:9566967, PMID:9566969 ; - oboInOwl:hasDbXref UMLS:C1425636 ; oboInOwl:hasExactSynonym "TUBGCP3", "alp6, s. cerevisiae, homolog of", "gamma ring complex protein, 104-kd", @@ -356947,21 +372303,24 @@ OMIM:617818 a owl:Class ; "tubulin-gamma complex-associated protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10426 ; - skos:exactMatch HGNC_symbol:TUBGCP3 ; + skos:exactMatch UMLS:C1425636, + HGNC:18598, + HGNC_symbol:TUBGCP3 ; biolink:category biolink:Gene . OMIM:617819 a owl:Class ; rdfs:label "RALGPS2" ; IAO:0000142 PMID:12485849, PMID:27149377 ; - oboInOwl:hasDbXref UMLS:C1538781 ; oboInOwl:hasExactSynonym "RALGPS2", "flj10244", "ral gef with ph domain and sh3-binding motif 2", "ral guanine nucleotide exchange factor with ph domain and sh3 domain-binding motif 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55103 ; - skos:exactMatch HGNC_symbol:RALGPS2 ; + skos:exactMatch UMLS:C1538781, + HGNC:30279, + HGNC_symbol:RALGPS2 ; biolink:category biolink:Gene . OMIM:617821 a owl:Class ; @@ -356978,37 +372337,39 @@ OMIM:617821 a owl:Class ; PMID:6773953, PMID:8071956, PMID:9295084 ; - oboInOwl:hasDbXref UMLS:C1851801 ; oboInOwl:hasExactSynonym "EDSARTH2", "eds 7b", "ehlers-danlos syndrome, iia viib, autosomal dominant", "ehlers-danlos syndrome, arthrochalasia type, 2" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C1851801 ; biolink:category biolink:Disease . OMIM:617823 a owl:Class ; rdfs:label "PWWP2A" ; IAO:0000142 PMID:28645917 ; - oboInOwl:hasDbXref UMLS:C2239866 ; oboInOwl:hasExactSynonym "PWWP2A", "pwwp domain-containing protein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114825 ; - skos:exactMatch HGNC_symbol:PWWP2A ; + skos:exactMatch UMLS:C2239866, + HGNC:29406, + HGNC_symbol:PWWP2A ; biolink:category biolink:Gene . OMIM:617824 a owl:Class ; rdfs:label "BRWD1" ; IAO:0000142 PMID:12359327, PMID:12889071 ; - oboInOwl:hasDbXref UMLS:C1823189 ; oboInOwl:hasExactSynonym "BRWD1", "bromodomain and wd repeat domain-containing protein 1", "chromosome 21 open reading frame 107", "wd repeat-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54014 ; - skos:exactMatch HGNC_symbol:BRWD1 ; + skos:exactMatch UMLS:C1823189, + HGNC:12760, + HGNC_symbol:BRWD1 ; biolink:category biolink:Gene . OMIM:617826 a owl:Class ; @@ -357016,7 +372377,6 @@ OMIM:617826 a owl:Class ; IAO:0000142 PMID:10980252, PMID:12808035, PMID:28883040 ; - oboInOwl:hasDbXref UMLS:C1423936 ; oboInOwl:hasExactSynonym "UNC50", "gea1-6 membrane-associated high-copy suppressor 1, s. cerevisiae, homolog of", "unc50, c. elegans, homolog of", @@ -357024,7 +372384,9 @@ OMIM:617826 a owl:Class ; "uncl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25972 ; - skos:exactMatch HGNC_symbol:UNC50 ; + skos:exactMatch UMLS:C1423936, + HGNC:16046, + HGNC_symbol:UNC50 ; biolink:category biolink:Gene . OMIM:617828 a owl:Class ; @@ -357036,7 +372398,6 @@ OMIM:617828 a owl:Class ; PMID:29253101 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:147430 ; - oboInOwl:hasDbXref UMLS:C1426736 ; oboInOwl:hasExactSynonym "ZFHX2", "kiaa1056", "kiaa1762", @@ -357046,55 +372407,60 @@ OMIM:617828 a owl:Class ; "zinc finger protein 409" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85446 ; - skos:exactMatch HGNC_symbol:ZFHX2 ; + skos:exactMatch UMLS:C1426736, + HGNC:20152, + HGNC_symbol:ZFHX2 ; biolink:category biolink:Gene . OMIM:617830 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 58" ; IAO:0000142 PMID:29100083 ; - oboInOwl:hasDbXref UMLS:C4693367, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE58", "developmental and epileptic encephalopathy 58", "epileptic encephalopathy, early infantile, 58" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4693367, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:617832 a owl:Class ; rdfs:label "SNTN" ; IAO:0000142 PMID:18829862 ; - oboInOwl:hasDbXref UMLS:C2680430 ; oboInOwl:hasExactSynonym "SNTN", "s100a-like protein", "s100a1l", "sentan, cilia apical structural protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132203 ; - skos:exactMatch HGNC_symbol:SNTN ; + skos:exactMatch UMLS:C2680430, + HGNC:33706, + HGNC_symbol:SNTN ; biolink:category biolink:Gene . OMIM:617833 a owl:Class ; rdfs:label "ZFHX2AS1" ; IAO:0000142 PMID:16257534 ; - oboInOwl:hasDbXref UMLS:C4693375 ; oboInOwl:hasExactSynonym "ZFHX2AS1", "zfh5 antisense RNA", "zfhx2 antisense RNA 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:109729160 ; - skos:exactMatch HGNC_symbol:ZFHX2-AS1 ; + skos:exactMatch UMLS:C4693375, + HGNC:52658, + HGNC_symbol:ZFHX2-AS1 ; biolink:category biolink:Gene . OMIM:617834 a owl:Class ; rdfs:label "PLEKHJ1" ; IAO:0000142 PMID:11602354 ; - oboInOwl:hasDbXref UMLS:C1425376 ; oboInOwl:hasExactSynonym "PLEKHJ1", "guanine nucleotide-releasing protein 10", "pleckstrin homology domain-containing protein, family j, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55111 ; - skos:exactMatch HGNC_symbol:PLEKHJ1 ; + skos:exactMatch UMLS:C1425376, + HGNC:18211, + HGNC_symbol:PLEKHJ1 ; biolink:category biolink:Gene . OMIM:617835 a owl:Class ; @@ -357102,21 +372468,22 @@ OMIM:617835 a owl:Class ; IAO:0000142 PMID:12056414, PMID:25558065, PMID:9395502 ; - oboInOwl:hasDbXref UMLS:C3148578 ; oboInOwl:hasExactSynonym "PDPR", "kiaa1990", "pyruvate dehydrogenase phosphatase regulatory subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55066 ; - skos:exactMatch HGNC_symbol:PDPR ; + skos:exactMatch UMLS:C3148578, + HGNC:30264, + HGNC_symbol:PDPR ; biolink:category biolink:Gene . OMIM:617836 a owl:Class ; rdfs:label "developmental delay and seizures with or without movement abnormalities" ; IAO:0000142 PMID:29100083 ; - oboInOwl:hasDbXref UMLS:C4693376 ; oboInOwl:hasExactSynonym "DEDSM", "developmental delay and seizures with or without movement abnormalities" ; + skos:exactMatch UMLS:C4693376 ; biolink:category biolink:Disease . OMIM:617837 a owl:Class ; @@ -357126,34 +372493,36 @@ OMIM:617837 a owl:Class ; PMID:28846098, PMID:28846099, PMID:28953886 ; - oboInOwl:hasDbXref UMLS:C1825343 ; oboInOwl:hasExactSynonym "GFRAL", "gdnf family receptor alpha-like protein", "gral" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389400 ; - skos:exactMatch HGNC_symbol:GFRAL ; + skos:exactMatch UMLS:C1825343, + HGNC:32789, + HGNC_symbol:GFRAL ; biolink:category biolink:Gene . OMIM:617838 a owl:Class ; rdfs:label "FAM234B" ; IAO:0000142 PMID:10819331 ; - oboInOwl:hasDbXref UMLS:C4084692 ; oboInOwl:hasExactSynonym "FAM234B", "family with sequence similarity 234, member B", "kiaa1467" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57613 ; - skos:exactMatch HGNC_symbol:FAM234B ; + skos:exactMatch UMLS:C4084692, + HGNC:29288, + HGNC_symbol:FAM234B ; biolink:category biolink:Gene . OMIM:617839 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 23" ; IAO:0000142 PMID:28469040 ; - oboInOwl:hasDbXref UMLS:C4693381 ; oboInOwl:hasExactSynonym "ALS23", "amyotrophic lateral sclerosis 23" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C4693381 ; biolink:category biolink:Disease . OMIM:617840 a owl:Class ; @@ -357164,100 +372533,108 @@ OMIM:617840 a owl:Class ; PMID:28185376 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:617873 ; - oboInOwl:hasDbXref UMLS:C1426839 ; oboInOwl:hasExactSynonym "TRIT1", "isopentenyltransferase", "trna isopentenyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54802 ; - skos:exactMatch HGNC_symbol:TRIT1 ; + skos:exactMatch UMLS:C1426839, + HGNC:20286, + HGNC_symbol:TRIT1 ; biolink:category biolink:Gene . OMIM:617841 a owl:Class ; rdfs:label "PSMA8" ; IAO:0000142 PMID:21630459 ; - oboInOwl:hasDbXref UMLS:C1538740 ; oboInOwl:hasExactSynonym "PSMA8", "proteasome subunit, alpha-type, 8", "psma7-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143471 ; - skos:exactMatch HGNC_symbol:PSMA8 ; + skos:exactMatch UMLS:C1538740, + HGNC:22985, + HGNC_symbol:PSMA8 ; biolink:category biolink:Gene . OMIM:617842 a owl:Class ; rdfs:label "PSMD1" ; IAO:0000142 PMID:24910440, PMID:8816993 ; - oboInOwl:hasDbXref UMLS:C1419027 ; oboInOwl:hasExactSynonym "PSMD1", "p112", "proteasome 26s subunit, non-atpase, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5707 ; - skos:exactMatch HGNC_symbol:PSMD1 ; + skos:exactMatch UMLS:C1419027, + HGNC:9554, + HGNC_symbol:PSMD1 ; biolink:category biolink:Gene . OMIM:617843 a owl:Class ; rdfs:label "RWDD2B" ; IAO:0000142 PMID:10729227 ; - oboInOwl:hasDbXref UMLS:C1412982 ; oboInOwl:hasExactSynonym "RWDD2B", "chromosome 21 open reading frame 6", "rwd domain-containing protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10069 ; - skos:exactMatch HGNC_symbol:RWDD2B ; + skos:exactMatch UMLS:C1412982, + HGNC:1302, + HGNC_symbol:RWDD2B ; biolink:category biolink:Gene . OMIM:617844 a owl:Class ; rdfs:label "PSMD8" ; IAO:0000142 PMID:7621825 ; - oboInOwl:hasDbXref UMLS:C1419039 ; oboInOwl:hasExactSynonym "PSMD8", "p31", "proteasome 26s subunit, non-atpase, 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5714 ; - skos:exactMatch HGNC_symbol:PSMD8 ; + skos:exactMatch UMLS:C1419039, + HGNC:9566, + HGNC_symbol:PSMD8 ; biolink:category biolink:Gene . OMIM:617845 a owl:Class ; rdfs:label "MFSD2B" ; IAO:0000142 PMID:18694395, PMID:29045386 ; - oboInOwl:hasDbXref UMLS:C2829656 ; oboInOwl:hasExactSynonym "MFSD2B", "major facilitator superfamily domain-containing protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388931 ; - skos:exactMatch HGNC_symbol:MFSD2B ; + skos:exactMatch UMLS:C2829656, + HGNC:37207, + HGNC_symbol:MFSD2B ; biolink:category biolink:Gene . OMIM:617846 a owl:Class ; rdfs:label "PHF5A" ; IAO:0000142 PMID:12054543, PMID:12234937 ; - oboInOwl:hasDbXref UMLS:C1425228 ; oboInOwl:hasExactSynonym "PHF5A", "phd finger protein 5a", "sf3b, 14-kd subunit, B", "splicing factor 3b, subunit 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84844 ; - skos:exactMatch HGNC_symbol:PHF5A ; + skos:exactMatch UMLS:C1425228, + HGNC:18000, + HGNC_symbol:PHF5A ; biolink:category biolink:Gene . OMIM:617847 a owl:Class ; rdfs:label "SF3B5" ; IAO:0000142 PMID:12234937 ; - oboInOwl:hasDbXref UMLS:C1427304 ; oboInOwl:hasExactSynonym "SF3B5", "sf3b, 10-kd subunit", "splicing factor 3b, subunit 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83443 ; - skos:exactMatch HGNC_symbol:SF3B5 ; + skos:exactMatch UMLS:C1427304, + HGNC:21083, + HGNC_symbol:SF3B5 ; biolink:category biolink:Gene . OMIM:617848 a owl:Class ; @@ -357267,7 +372644,6 @@ OMIM:617848 a owl:Class ; PMID:25680556, PMID:32494006, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1425701 ; oboInOwl:hasExactSynonym "DDX46", "dead-box helicase 46", "dead-box protein 46", @@ -357275,14 +372651,15 @@ OMIM:617848 a owl:Class ; "prp5, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9879 ; - skos:exactMatch HGNC_symbol:DDX46 ; + skos:exactMatch UMLS:C1425701, + HGNC:18681, + HGNC_symbol:DDX46 ; biolink:category biolink:Gene . OMIM:617849 a owl:Class ; rdfs:label "U2SURP" ; IAO:0000142 PMID:12234937, PMID:9205841 ; - oboInOwl:hasDbXref UMLS:C3146845 ; oboInOwl:hasExactSynonym "U2SURP", "kiaa0332", "ser/arg-rich domain protein, 140-kd", @@ -357290,14 +372667,15 @@ OMIM:617849 a owl:Class ; "u2 snrnp-associated surp domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23350 ; - skos:exactMatch HGNC_symbol:U2SURP ; + skos:exactMatch UMLS:C3146845, + HGNC:30855, + HGNC_symbol:U2SURP ; biolink:category biolink:Gene . OMIM:617850 a owl:Class ; rdfs:label "SERTAD1" ; IAO:0000142 PMID:11331592, PMID:28666866 ; - oboInOwl:hasDbXref UMLS:C1425186 ; oboInOwl:hasExactSynonym "SERTAD1", "p34(sei1)", "sei1", @@ -357305,7 +372683,9 @@ OMIM:617850 a owl:Class ; "transcriptional regulator interacting with phd-bromodomain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29950 ; - skos:exactMatch HGNC_symbol:SERTAD1 ; + skos:exactMatch UMLS:C1425186, + HGNC:17932, + HGNC_symbol:SERTAD1 ; biolink:category biolink:Gene . OMIM:617851 a owl:Class ; @@ -357313,27 +372693,29 @@ OMIM:617851 a owl:Class ; IAO:0000142 PMID:11331592, PMID:23291629, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1428999 ; oboInOwl:hasExactSynonym "SERTAD2", "kiaa0127", "serta domain-containing protein 2", "transcriptional regulator interacting with phd-bromodomain 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9792 ; - skos:exactMatch HGNC_symbol:SERTAD2 ; + skos:exactMatch UMLS:C1428999, + HGNC:30784, + HGNC_symbol:SERTAD2 ; biolink:category biolink:Gene . OMIM:617852 a owl:Class ; rdfs:label "SEC23IP" ; IAO:0000142 PMID:10400679, PMID:11112430 ; - oboInOwl:hasDbXref UMLS:C1424689 ; oboInOwl:hasExactSynonym "SEC23IP", "p125", "sec23-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11196 ; - skos:exactMatch HGNC_symbol:SEC23IP ; + skos:exactMatch UMLS:C1424689, + HGNC:17018, + HGNC_symbol:SEC23IP ; biolink:category biolink:Gene . OMIM:617853 a owl:Class ; @@ -357345,28 +372727,30 @@ OMIM:617853 a owl:Class ; PMID:31363758 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:618569 ; - oboInOwl:hasDbXref UMLS:C1824548, - UMLS:C5231413 ; oboInOwl:hasExactSynonym "SVBP", "coiled-coil domain-containing protein 23", "small vasohibin-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374969 ; - skos:exactMatch HGNC_symbol:SVBP ; + skos:exactMatch UMLS:C1824548, + UMLS:C5231413, + HGNC:29204, + HGNC_symbol:SVBP ; biolink:category biolink:Gene . OMIM:617855 a owl:Class ; rdfs:label "BMT2" ; IAO:0000142 PMID:23558746, PMID:29123071 ; - oboInOwl:hasDbXref UMLS:C2681245 ; oboInOwl:hasExactSynonym "BMT2", "base methyltransferase of 25s rrna 2, s. cerevisiae, homolog of", "chromosome 7 open reading frame 60", "s-adenosylmethionine sensor upstream of mtorc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154743 ; - skos:exactMatch HGNC_symbol:BMT2 ; + skos:exactMatch UMLS:C2681245, + HGNC:26475, + HGNC_symbol:BMT2 ; biolink:category biolink:Gene . OMIM:617856 a owl:Class ; @@ -357374,14 +372758,15 @@ OMIM:617856 a owl:Class ; IAO:0000142 PMID:21455565, PMID:22732588, PMID:9563507 ; - oboInOwl:hasDbXref UMLS:C1424586 ; oboInOwl:hasExactSynonym "THEMIS2", "chromosome 1 open reading frame 38", "induced by contact with basement membrane 1", "thymocyte selection-associated protein family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9473 ; - skos:exactMatch HGNC_symbol:THEMIS2 ; + skos:exactMatch UMLS:C1424586, + HGNC:16839, + HGNC_symbol:THEMIS2 ; biolink:category biolink:Gene . OMIM:617857 a owl:Class ; @@ -357389,7 +372774,6 @@ OMIM:617857 a owl:Class ; IAO:0000142 PMID:10723133, PMID:25670720, PMID:7788527 ; - oboInOwl:hasDbXref UMLS:C1419037 ; oboInOwl:hasExactSynonym "PSMD6", "kiaa0107", "p44s10", @@ -357397,7 +372781,9 @@ OMIM:617857 a owl:Class ; "proteasome 26s, subunit 10, 44-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9861 ; - skos:exactMatch HGNC_symbol:PSMD6 ; + skos:exactMatch UMLS:C1419037, + HGNC:9564, + HGNC_symbol:PSMD6 ; biolink:category biolink:Gene . OMIM:617858 a owl:Class ; @@ -357405,13 +372791,14 @@ OMIM:617858 a owl:Class ; IAO:0000142 PMID:10764772, PMID:24770418, PMID:28031328 ; - oboInOwl:hasDbXref UMLS:C1419044 ; oboInOwl:hasExactSynonym "PSMF1", "proteasome inhibitor subunit 1", "proteasome inhibitor, 31-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9491 ; - skos:exactMatch HGNC_symbol:PSMF1 ; + skos:exactMatch UMLS:C1419044, + HGNC:9571, + HGNC_symbol:PSMF1 ; biolink:category biolink:Gene . OMIM:617859 a owl:Class ; @@ -357420,7 +372807,6 @@ OMIM:617859 a owl:Class ; PMID:12527899, PMID:16769820, PMID:7584026 ; - oboInOwl:hasDbXref UMLS:C1424603 ; oboInOwl:hasExactSynonym "DLGAP5", "discs large, drosophila, homolog of, 7", "discs large-associated protein 5", @@ -357428,32 +372814,36 @@ OMIM:617859 a owl:Class ; "kiaa0008" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9787 ; - skos:exactMatch HGNC_symbol:DLGAP5 ; + skos:exactMatch UMLS:C1424603, + HGNC:16864, + HGNC_symbol:DLGAP5 ; biolink:category biolink:Gene . OMIM:617860 a owl:Class ; rdfs:label "SFTA3" ; IAO:0000142 PMID:24743970 ; - oboInOwl:hasDbXref UMLS:C2680374 ; oboInOwl:hasExactSynonym "SFTA3", "surfactant protein h", "surfactant-associated protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253970 ; - skos:exactMatch HGNC_symbol:SFTA3 ; + skos:exactMatch UMLS:C2680374, + HGNC:18387, + HGNC_symbol:SFTA3 ; biolink:category biolink:Gene . OMIM:617861 a owl:Class ; rdfs:label "MYPOP" ; IAO:0000142 PMID:15615774 ; - oboInOwl:hasDbXref UMLS:C2681857 ; oboInOwl:hasExactSynonym "MYPOP", "myb-related transcription factor, partner of profilin", "p42(pop)", "partner of profilin, 42-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339344 ; - skos:exactMatch HGNC_symbol:MYPOP ; + skos:exactMatch UMLS:C2681857, + HGNC:20178, + HGNC_symbol:MYPOP ; biolink:category biolink:Gene . OMIM:617867 a owl:Class ; @@ -357461,26 +372851,28 @@ OMIM:617867 a owl:Class ; IAO:0000142 PMID:15225615, PMID:17482569, PMID:9305847 ; - oboInOwl:hasDbXref UMLS:C1424588 ; oboInOwl:hasExactSynonym "TP53I11", "p53-inducible gene 11", "tumor protein p53-inducible protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9537 ; - skos:exactMatch HGNC_symbol:TP53I11 ; + skos:exactMatch UMLS:C1424588, + HGNC:16842, + HGNC_symbol:TP53I11 ; biolink:category biolink:Gene . OMIM:617868 a owl:Class ; rdfs:label "NAF1" ; IAO:0000142 PMID:16601202, PMID:27510903 ; - oboInOwl:hasDbXref UMLS:C2239772 ; oboInOwl:hasExactSynonym "NAF1", "naf1, s. cerevisiae, homolog of", "nuclear assembly factor 1 ribonucleoprotein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92345 ; - skos:exactMatch HGNC_symbol:NAF1 ; + skos:exactMatch UMLS:C2239772, + HGNC:25126, + HGNC_symbol:NAF1 ; biolink:category biolink:Gene . OMIM:617869 a owl:Class ; @@ -357488,13 +372880,14 @@ OMIM:617869 a owl:Class ; IAO:0000142 PMID:14645517, PMID:17879320, PMID:21126319 ; - oboInOwl:hasDbXref UMLS:C1826427 ; oboInOwl:hasExactSynonym "NKX1-1", "nk1 homeobox 1", "sax2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54729 ; - skos:exactMatch HGNC_symbol:NKX1-1 ; + skos:exactMatch UMLS:C1826427, + HGNC:24975, + HGNC_symbol:NKX1-1 ; biolink:category biolink:Gene . OMIM:617870 a owl:Class ; @@ -357502,33 +372895,34 @@ OMIM:617870 a owl:Class ; IAO:0000142 PMID:15615782, PMID:28625565, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1824726 ; oboInOwl:hasExactSynonym "CEP350", "centrosomal protein 350", "centrosome-associated protein, 350-kd", "kiaa0480" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9857 ; - skos:exactMatch HGNC_symbol:CEP350 ; + skos:exactMatch UMLS:C1824726, + HGNC:24238, + HGNC_symbol:CEP350 ; biolink:category biolink:Gene . OMIM:617871 a owl:Class ; rdfs:label "retinitis pigmentosa 81" ; IAO:0000142 PMID:28973684 ; - oboInOwl:hasDbXref UMLS:C4693443 ; oboInOwl:hasExactSynonym "RP81", "retinitis pigmentosa 81" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4693443 ; biolink:category biolink:Disease . OMIM:617875 a owl:Class ; rdfs:label "polycystic liver disease 4 with or without kidney cysts" ; IAO:0000142 PMID:24706814, PMID:25920554 ; - oboInOwl:hasDbXref UMLS:C4693479 ; oboInOwl:hasExactSynonym "PCLD4", "polycystic liver disease 4 with or without kidney cysts" ; rdfs:subClassOf OMIMPS:174050 ; + skos:exactMatch UMLS:C4693479 ; biolink:category biolink:Disease . OMIM:617876 a owl:Class ; @@ -357540,23 +372934,24 @@ OMIM:617876 a owl:Class ; PMID:9074930 ; RO:0002525 CHR:9606chr12p13.31 ; RO:0003303 OMIM:619487 ; - oboInOwl:hasDbXref UMLS:C2678677 ; oboInOwl:hasExactSynonym "RNU7-1", "rna, u7 small nuclear, 1", "rnu7", "u7.1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100147744 ; - skos:exactMatch HGNC_symbol:RNU7-1 ; + skos:exactMatch UMLS:C2678677, + HGNC:34033, + HGNC_symbol:RNU7-1 ; biolink:category biolink:Gene . OMIM:617877 a owl:Class ; rdfs:label "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1" ; IAO:0000142 PMID:29198724 ; - oboInOwl:hasDbXref UMLS:C4693481 ; oboInOwl:hasExactSynonym "SSFSC1", "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1" ; rdfs:subClassOf OMIMPS:617877 ; + skos:exactMatch UMLS:C4693481 ; biolink:category biolink:Disease . OMIM:617878 a owl:Class ; @@ -357565,13 +372960,14 @@ OMIM:617878 a owl:Class ; PMID:3785200 ; RO:0002525 CHR:9606chr2q21.1 ; RO:0003303 OMIM:617928 ; - oboInOwl:hasDbXref UMLS:C2240133 ; oboInOwl:hasExactSynonym "TUBA3D", "h2-alpha", "tubulin, alpha-3d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113457 ; - skos:exactMatch HGNC_symbol:TUBA3D ; + skos:exactMatch UMLS:C2240133, + HGNC:24071, + HGNC_symbol:TUBA3D ; biolink:category biolink:Gene . OMIM:617880 a owl:Class ; @@ -357580,27 +372976,29 @@ OMIM:617880 a owl:Class ; PMID:23844208, PMID:25642776, PMID:29272404 ; - oboInOwl:hasDbXref UMLS:C2240270 ; oboInOwl:hasExactSynonym "POC5", "chromosome 5 open reading frame 37", "poc5 centriolar protein", "proteome of centriole 5, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134359 ; - skos:exactMatch HGNC_symbol:POC5 ; + skos:exactMatch UMLS:C2240270, + HGNC:26658, + HGNC_symbol:POC5 ; biolink:category biolink:Gene . OMIM:617881 a owl:Class ; rdfs:label "C4ORF54" ; IAO:0000142 PMID:28792652 ; - oboInOwl:hasDbXref UMLS:C4554750 ; oboInOwl:hasExactSynonym "C4ORF54", "chromosome 4 open reading frame 54", "fopv gene", "loc285556" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285556 ; - skos:exactMatch HGNC_symbol:C4orf54 ; + skos:exactMatch UMLS:C4554750, + HGNC:27741, + HGNC_symbol:C4orf54 ; biolink:category biolink:Gene . OMIM:617882 a owl:Class ; @@ -357611,10 +373009,10 @@ OMIM:617882 a owl:Class ; PMID:25877835, PMID:26645395, PMID:28364294 ; - oboInOwl:hasDbXref UMLS:C4693509 ; oboInOwl:hasExactSynonym "CMTDIG", "charcot-marie-tooth disease, dominant intermediate g" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4693509 ; biolink:category biolink:Disease . OMIM:617883 a owl:Class ; @@ -357624,10 +373022,10 @@ OMIM:617883 a owl:Class ; PMID:25472942, PMID:29133208, PMID:29712865 ; - oboInOwl:hasDbXref UMLS:C4554406 ; oboInOwl:hasExactSynonym "FANCS", "fanconi anemia, complementation group s" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C4554406 ; biolink:category biolink:Disease . OMIM:617884 a owl:Class ; @@ -357635,28 +373033,30 @@ OMIM:617884 a owl:Class ; IAO:0000142 PMID:21720545, PMID:26721387, PMID:9299445 ; - oboInOwl:hasDbXref UMLS:C4320396 ; oboInOwl:hasExactSynonym "HDGFL2", "hdgf-like protein 2", "hdgf-related protein 2", "hepatoma-derived growth factor-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84717 ; - skos:exactMatch HGNC_symbol:HDGFL2 ; + skos:exactMatch UMLS:C4320396, + HGNC:14680, + HGNC_symbol:HDGFL2 ; biolink:category biolink:Gene . OMIM:617886 a owl:Class ; rdfs:label "ZNF512B" ; IAO:0000142 PMID:10574462, PMID:20639536 ; - oboInOwl:hasDbXref UMLS:C2240200 ; oboInOwl:hasExactSynonym "ZNF512B", "gam", "kiaa1196", "zinc finger protein 512b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57473 ; - skos:exactMatch HGNC_symbol:ZNF512B ; + skos:exactMatch UMLS:C2240200, + HGNC:29212, + HGNC_symbol:ZNF512B ; biolink:category biolink:Gene . OMIM:617887 a owl:Class ; @@ -357664,13 +373064,14 @@ OMIM:617887 a owl:Class ; IAO:0000142 PMID:11804860, PMID:11914032, PMID:20563878 ; - oboInOwl:hasDbXref UMLS:C1425503 ; oboInOwl:hasExactSynonym "AGMAT", "agmatinase", "agmatine ureohydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79814 ; - skos:exactMatch HGNC_symbol:AGMAT ; + skos:exactMatch UMLS:C1425503, + HGNC:18407, + HGNC_symbol:AGMAT ; biolink:category biolink:Gene . OMIM:617888 a owl:Class ; @@ -357678,12 +373079,13 @@ OMIM:617888 a owl:Class ; IAO:0000142 PMID:20382120, PMID:21599657, PMID:24771066 ; - oboInOwl:hasDbXref UMLS:C1428861 ; oboInOwl:hasExactSynonym "ZNF580", "zinc finger protein 580" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51157 ; - skos:exactMatch HGNC_symbol:ZNF580 ; + skos:exactMatch UMLS:C1428861, + HGNC:29473, + HGNC_symbol:ZNF580 ; biolink:category biolink:Gene . OMIM:617889 a owl:Class ; @@ -357691,70 +373093,74 @@ OMIM:617889 a owl:Class ; IAO:0000142 PMID:15614436, PMID:18000758, PMID:29048625 ; - oboInOwl:hasDbXref UMLS:C1428119 ; oboInOwl:hasExactSynonym "PYROXD2", "chromosome 10 open reading frame 33", "pyridine nucleotide-disulphide oxidoreductase domain-containing protein 2", "yuef" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84795 ; - skos:exactMatch HGNC_symbol:PYROXD2 ; + skos:exactMatch UMLS:C1428119, + HGNC:23517, + HGNC_symbol:PYROXD2 ; biolink:category biolink:Gene . OMIM:617890 a owl:Class ; rdfs:label "ZNF664" ; IAO:0000142 PMID:12782764, PMID:8634327 ; - oboInOwl:hasDbXref UMLS:C1538229 ; oboInOwl:hasExactSynonym "ZNF664", "zinc finger protein 664", "zinc finger, organ of corti, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144348 ; - skos:exactMatch HGNC_symbol:ZNF664 ; + skos:exactMatch UMLS:C1538229, + HGNC:25406, + HGNC_symbol:ZNF664 ; biolink:category biolink:Gene . OMIM:617891 a owl:Class ; rdfs:label "ZNF655" ; IAO:0000142 PMID:15558030 ; - oboInOwl:hasDbXref UMLS:C1538223 ; oboInOwl:hasExactSynonym "ZNF655", "vav1-interacting kruppel-like protein", "zinc finger protein 655" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79027 ; - skos:exactMatch HGNC_symbol:ZNF655 ; + skos:exactMatch UMLS:C1538223, + HGNC:30899, + HGNC_symbol:ZNF655 ; biolink:category biolink:Gene . OMIM:617893 a owl:Class ; rdfs:label "RPL36" ; IAO:0000142 PMID:16394183, PMID:8484789 ; - oboInOwl:hasDbXref UMLS:C1422119 ; oboInOwl:hasExactSynonym "RPL36", "ribosomal protein l36" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25873 ; - skos:exactMatch HGNC_symbol:RPL36 ; + skos:exactMatch UMLS:C1422119, + HGNC:13631, + HGNC_symbol:RPL36 ; biolink:category biolink:Gene . OMIM:617894 a owl:Class ; rdfs:label "TMEM50B" ; IAO:0000142 PMID:18541381 ; - oboInOwl:hasDbXref UMLS:C1823311 ; oboInOwl:hasExactSynonym "TMEM50B", "chromosome 21 open reading frame 4", "transmembrane protein 50b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:757 ; - skos:exactMatch HGNC_symbol:TMEM50B ; + skos:exactMatch UMLS:C1823311, + HGNC:1280, + HGNC_symbol:TMEM50B ; biolink:category biolink:Gene . OMIM:617896 a owl:Class ; rdfs:label "ZIC5" ; IAO:0000142 PMID:11044622, PMID:15465018 ; - oboInOwl:hasDbXref UMLS:C1426858 ; oboInOwl:hasExactSynonym "ZIC5", "odd paired-related protein", "opa-related protein", @@ -357762,33 +373168,37 @@ OMIM:617896 a owl:Class ; "zinc finger protein of cerebellum 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85416 ; - skos:exactMatch HGNC_symbol:ZIC5 ; + skos:exactMatch UMLS:C1426858, + HGNC:20322, + HGNC_symbol:ZIC5 ; biolink:category biolink:Gene . OMIM:617897 a owl:Class ; rdfs:label "CSKMT" ; IAO:0000142 PMID:28391595, PMID:28887308 ; - oboInOwl:hasDbXref UMLS:C2681659 ; oboInOwl:hasExactSynonym "CSKMT", "citrate synthase lysine methyltransferase", "methyltransferase-like 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:751071 ; - skos:exactMatch HGNC_symbol:CSKMT ; + skos:exactMatch UMLS:C2681659, + HGNC:33113, + HGNC_symbol:CSKMT ; biolink:category biolink:Gene . OMIM:617901 a owl:Class ; rdfs:label "DEXI" ; IAO:0000142 PMID:11306815, PMID:11472984 ; - oboInOwl:hasDbXref UMLS:C2829258 ; oboInOwl:hasExactSynonym "DEXI", "dexamethasone-induced gene", "myle" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28955 ; - skos:exactMatch HGNC_symbol:DEXI ; + skos:exactMatch UMLS:C2829258, + HGNC:13267, + HGNC_symbol:DEXI ; biolink:category biolink:Gene . OMIM:617902 a owl:Class ; @@ -357796,14 +373206,15 @@ OMIM:617902 a owl:Class ; IAO:0000142 PMID:12223271, PMID:16682780, PMID:18219197 ; - oboInOwl:hasDbXref UMLS:C3470564 ; oboInOwl:hasExactSynonym "LGALSL", "galectin-like protein", "galectin-related protein", "hspc159" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29094 ; - skos:exactMatch HGNC_symbol:LGALSL ; + skos:exactMatch UMLS:C3470564, + HGNC:25012, + HGNC_symbol:LGALSL ; biolink:category biolink:Gene . OMIM:617903 a owl:Class ; @@ -357811,9 +373222,9 @@ OMIM:617903 a owl:Class ; IAO:0000142 PMID:26740508, PMID:28856709, PMID:29369404 ; - oboInOwl:hasDbXref UMLS:C4693546 ; oboInOwl:hasExactSynonym "NDPLHS", "neurodevelopmental disorder with poor language and loss of hand skills" ; + skos:exactMatch UMLS:C4693546 ; biolink:category biolink:Disease . OMIM:617904 a owl:Class ; @@ -357821,12 +373232,12 @@ OMIM:617904 a owl:Class ; IAO:0000142 PMID:25262651, PMID:28856709, PMID:29100083 ; - oboInOwl:hasDbXref UMLS:C4693550, - ORPHA:3095 ; oboInOwl:hasExactSynonym "DEE59", "developmental and epileptic encephalopathy 59", "epileptic encephalopathy, early infantile, 59" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4693550, + ORPHA:3095 ; biolink:category biolink:Disease . OMIM:617905 a owl:Class ; @@ -357834,13 +373245,14 @@ OMIM:617905 a owl:Class ; IAO:0000142 PMID:15930302, PMID:20624928, PMID:24876382 ; - oboInOwl:hasDbXref UMLS:C2681253 ; oboInOwl:hasExactSynonym "HILPDA", "hypoxia-inducible lipid droplet-associated protein", "hypoxia-inducible protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29923 ; - skos:exactMatch HGNC_symbol:HILPDA ; + skos:exactMatch UMLS:C2681253, + HGNC:28859, + HGNC_symbol:HILPDA ; biolink:category biolink:Gene . OMIM:617906 a owl:Class ; @@ -357849,7 +373261,6 @@ OMIM:617906 a owl:Class ; PMID:20118210, PMID:24414207, PMID:8688464 ; - oboInOwl:hasDbXref UMLS:C1824433 ; oboInOwl:hasExactSynonym "CFAP20", "basal body upregulated gene 22", "chromosome 16 open reading frame 80", @@ -357857,17 +373268,19 @@ OMIM:617906 a owl:Class ; "functional spliceosome-associated protein 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29105 ; - skos:exactMatch HGNC_symbol:CFAP20 ; + skos:exactMatch UMLS:C1824433, + HGNC:29523, + HGNC_symbol:CFAP20 ; biolink:category biolink:Gene . OMIM:617907 a owl:Class ; rdfs:label "erythrocytosis, familial, 5" ; IAO:0000142 PMID:27651169, PMID:29514032 ; - oboInOwl:hasDbXref UMLS:C4693552 ; oboInOwl:hasExactSynonym "ECYT5", "erythrocytosis, familial, 5" ; rdfs:subClassOf OMIMPS:133100 ; + skos:exactMatch UMLS:C4693552 ; biolink:category biolink:Disease . OMIM:617908 a owl:Class ; @@ -357876,26 +373289,28 @@ OMIM:617908 a owl:Class ; PMID:11782445, PMID:16714279, PMID:16914750 ; - oboInOwl:hasDbXref UMLS:C1428011 ; oboInOwl:hasExactSynonym "ZNF473", "kiaa1141", "zinc finger protein 473", "zinc finger protein, 100-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25888 ; - skos:exactMatch HGNC_symbol:ZNF473 ; + skos:exactMatch UMLS:C1428011, + HGNC:23239, + HGNC_symbol:ZNF473 ; biolink:category biolink:Gene . OMIM:617909 a owl:Class ; rdfs:label "LSM10" ; IAO:0000142 PMID:11574479, PMID:16914750 ; - oboInOwl:hasDbXref UMLS:C1537620 ; oboInOwl:hasExactSynonym "LSM10", "lsm10, u7 small nuclear rna-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84967 ; - skos:exactMatch HGNC_symbol:LSM10 ; + skos:exactMatch UMLS:C1537620, + HGNC:17562, + HGNC_symbol:LSM10 ; biolink:category biolink:Gene . OMIM:617910 a owl:Class ; @@ -357904,20 +373319,21 @@ OMIM:617910 a owl:Class ; PMID:16914750 ; RO:0002525 CHR:9606chr5q33.3 ; RO:0003303 OMIM:619486 ; - oboInOwl:hasDbXref UMLS:C1537621 ; oboInOwl:hasExactSynonym "LSM11", "lsm11, u7 small nuclear rna-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134353 ; - skos:exactMatch HGNC_symbol:LSM11 ; + skos:exactMatch UMLS:C1537621, + HGNC:30860, + HGNC_symbol:LSM11 ; biolink:category biolink:Gene . OMIM:617911 a owl:Class ; rdfs:label "diamond-blackfan anemia-like" ; IAO:0000142 PMID:28283061 ; - oboInOwl:hasDbXref UMLS:C4693556 ; oboInOwl:hasExactSynonym "DBAL", "diamond-blackfan anemia-like" ; + skos:exactMatch UMLS:C4693556 ; biolink:category biolink:Disease . OMIM:617918 a owl:Class ; @@ -357925,28 +373341,30 @@ OMIM:617918 a owl:Class ; IAO:0000142 PMID:12588993, PMID:25531779, PMID:29203676 ; - oboInOwl:hasDbXref UMLS:C1539430 ; oboInOwl:hasExactSynonym "STRIP1", "family with sequence similarity 40, member a", "far11, s. cerevisiae, homolog of, a", "striatin-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85369 ; - skos:exactMatch HGNC_symbol:STRIP1 ; + skos:exactMatch UMLS:C1539430, + HGNC:25916, + HGNC_symbol:STRIP1 ; biolink:category biolink:Gene . OMIM:617919 a owl:Class ; rdfs:label "STRIP2" ; IAO:0000142 PMID:12588993, PMID:25531779 ; - oboInOwl:hasDbXref UMLS:C1539431 ; oboInOwl:hasExactSynonym "STRIP2", "family with sequence similarity 40, member B", "far11, s. cerevisiae, homolog of, B", "striatin-interacting protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57464 ; - skos:exactMatch HGNC_symbol:STRIP2 ; + skos:exactMatch UMLS:C1539431, + HGNC:22209, + HGNC_symbol:STRIP2 ; biolink:category biolink:Gene . OMIM:617922 a owl:Class ; @@ -357960,14 +373378,15 @@ OMIM:617922 a owl:Class ; PMID:8245024 ; RO:0002525 CHR:9606chr4q31.21 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1367455 ; oboInOwl:hasExactSynonym "GYPA", "glycophorin a", "glycophorin, alpha", "gpa" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2993 ; - skos:exactMatch HGNC_symbol:GYPA ; + skos:exactMatch UMLS:C1367455, + HGNC:4702, + HGNC_symbol:GYPA ; biolink:category biolink:Gene . OMIM:617923 a owl:Class ; @@ -357981,26 +373400,27 @@ OMIM:617923 a owl:Class ; PMID:8346238 ; RO:0002525 CHR:9606chr4q31.21 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1415374 ; oboInOwl:hasExactSynonym "GYPB", "glycophorin B", "glycophorin, delta", "gpb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2994 ; - skos:exactMatch HGNC_symbol:GYPB ; + skos:exactMatch UMLS:C1415374, + HGNC:4703, + HGNC_symbol:GYPB ; biolink:category biolink:Gene . OMIM:617926 a owl:Class ; rdfs:label "orofaciodigital syndrome 17" ; IAO:0000142 PMID:23459408, PMID:27158779 ; - oboInOwl:hasDbXref UMLS:C4693640 ; oboInOwl:hasExactSynonym "OFD17", "ofds 17", "oral-facial-digital syndrome, iia 17", "orofaciodigital syndrome 17" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C4693640 ; biolink:category biolink:Disease . OMIM:617930 a owl:Class ; @@ -358008,20 +373428,21 @@ OMIM:617930 a owl:Class ; IAO:0000142 PMID:25900906, PMID:29474920 ; RO:0002525 CHR:9606chr1p35 ; - oboInOwl:hasDbXref UMLS:C4693669 ; oboInOwl:hasExactSynonym "chromosome 1p35 deletion syndrome" ; + skos:exactMatch UMLS:C4693669 ; biolink:category biolink:Disease . OMIM:617932 a owl:Class ; rdfs:label "RHPN2" ; IAO:0000142 PMID:12221077 ; - oboInOwl:hasDbXref UMLS:C1426575 ; oboInOwl:hasExactSynonym "RHPN2", "rho gtpase-binding protein 2", "rhophilin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85415 ; - skos:exactMatch HGNC_symbol:RHPN2 ; + skos:exactMatch UMLS:C1426575, + HGNC:19974, + HGNC_symbol:RHPN2 ; biolink:category biolink:Gene . OMIM:617934 a owl:Class ; @@ -358030,55 +373451,57 @@ OMIM:617934 a owl:Class ; PMID:21949878, PMID:29348366, PMID:29628311 ; - oboInOwl:hasDbXref UMLS:C1428341 ; oboInOwl:hasExactSynonym "AEBP2", "adipocyte enhancer-binding protein 2", "ae-binding protein 2", "zinc finger protein aebp2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121536 ; - skos:exactMatch HGNC_symbol:AEBP2 ; + skos:exactMatch UMLS:C1428341, + HGNC:24051, + HGNC_symbol:AEBP2 ; biolink:category biolink:Gene . OMIM:617937 a owl:Class ; rdfs:label "RBM11" ; IAO:0000142 PMID:21984414 ; - oboInOwl:hasDbXref UMLS:C1419297 ; oboInOwl:hasExactSynonym "RBM11", "rna-binding motif protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54033 ; - skos:exactMatch HGNC_symbol:RBM11 ; + skos:exactMatch UMLS:C1419297, + HGNC:9897, + HGNC_symbol:RBM11 ; biolink:category biolink:Gene . OMIM:617938 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 62" ; IAO:0000142 PMID:29466837 ; - oboInOwl:hasDbXref UMLS:C4693699, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE62", "developmental and epileptic encephalopathy 62", "epileptic encephalopathy, early infantile, 62" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4693699, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:617939 a owl:Class ; rdfs:label "ZFP69" ; IAO:0000142 PMID:19578398 ; - oboInOwl:hasDbXref UMLS:C1421822 ; oboInOwl:hasExactSynonym "ZFP69", "zinc finger protein 642", "zinc finger protein 69" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339559 ; - skos:exactMatch HGNC_symbol:ZFP69 ; + skos:exactMatch UMLS:C1421822, + HGNC:24708, + HGNC_symbol:ZFP69 ; biolink:category biolink:Gene . OMIM:617940 a owl:Class ; rdfs:label "PLEKHG3" ; IAO:0000142 PMID:27555588, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C1538674 ; oboInOwl:hasExactSynonym "PLEKHG3", "kiaa0599", "pleckstrin homology domain- and rhogef domain-containing protein g3", @@ -358086,13 +373509,14 @@ OMIM:617940 a owl:Class ; "rho guanine nucleotide exchange factor 43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26030 ; - skos:exactMatch HGNC_symbol:PLEKHG3 ; + skos:exactMatch UMLS:C1538674, + HGNC:20364, + HGNC_symbol:PLEKHG3 ; biolink:category biolink:Gene . OMIM:617942 a owl:Class ; rdfs:label "ABHD17A" ; IAO:0000142 PMID:26701913 ; - oboInOwl:hasDbXref UMLS:C1825237 ; oboInOwl:hasExactSynonym "ABHD17A", "abhydrolase domain-containing protein 17a, depalmitoylase", "alpha/beta hydrolase domain-containing protein 17a", @@ -358100,13 +373524,14 @@ OMIM:617942 a owl:Class ; "family with sequence similarity 108, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81926 ; - skos:exactMatch HGNC_symbol:ABHD17A ; + skos:exactMatch UMLS:C1825237, + HGNC:28756, + HGNC_symbol:ABHD17A ; biolink:category biolink:Gene . OMIM:617943 a owl:Class ; rdfs:label "ABHD17B" ; IAO:0000142 PMID:26701913 ; - oboInOwl:hasDbXref UMLS:C1428366 ; oboInOwl:hasExactSynonym "ABHD17B", "abhydrolase domain-containing protein 17b, depalmitoylase", "alpha/beta hydrolase domain-containing protein 17b", @@ -358114,34 +373539,38 @@ OMIM:617943 a owl:Class ; "family with sequence similarity 108, member b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51104 ; - skos:exactMatch HGNC_symbol:ABHD17B ; + skos:exactMatch UMLS:C1428366, + HGNC:24278, + HGNC_symbol:ABHD17B ; biolink:category biolink:Gene . OMIM:617944 a owl:Class ; rdfs:label "ABHD17C" ; IAO:0000142 PMID:26701913 ; - oboInOwl:hasDbXref UMLS:C3541169 ; oboInOwl:hasExactSynonym "ABHD17C", "abhydrolase domain-containing protein 17c, depalmitoylase", "alpha/beta hydrolase domain-containing protein 17c", "family with sequence similarity 108, member c1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58489 ; - skos:exactMatch HGNC_symbol:ABHD17C ; + skos:exactMatch UMLS:C3541169, + HGNC:26925, + HGNC_symbol:ABHD17C ; biolink:category biolink:Gene . OMIM:617945 a owl:Class ; rdfs:label "BTBD8" ; IAO:0000142 PMID:10470851, PMID:29262337 ; - oboInOwl:hasDbXref UMLS:C1825677 ; oboInOwl:hasExactSynonym "BTBD8", "ap2-interacting clathrin-endocytosis protein", "btb domain-containing protein 8", "kiaa1107" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284697 ; - skos:exactMatch HGNC_symbol:BTBD8 ; + skos:exactMatch UMLS:C1825677, + HGNC:21019, + HGNC_symbol:BTBD8 ; biolink:category biolink:Gene . OMIM:617946 a owl:Class ; @@ -358151,27 +373580,29 @@ OMIM:617946 a owl:Class ; PMID:5491443 ; RO:0002525 CHR:9606chr5q35.1 ; RO:0003303 OMIM:208100 ; - oboInOwl:hasDbXref UMLS:C1825061, - UMLS:C5435650 ; oboInOwl:hasExactSynonym "ERGIC1", "endoplasmic reticulum-golgi intermediate compartment protein 1", "endoplasmic reticulum-golgi intermediate compartment protein, 32-kd", "kiaa1181" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57222 ; - skos:exactMatch HGNC_symbol:ERGIC1 ; + skos:exactMatch UMLS:C1825061, + UMLS:C5435650, + HGNC:29205, + HGNC_symbol:ERGIC1 ; biolink:category biolink:Gene . OMIM:617947 a owl:Class ; rdfs:label "WDR74" ; IAO:0000142 PMID:26456651, PMID:29107693 ; - oboInOwl:hasDbXref UMLS:C1823838 ; oboInOwl:hasExactSynonym "WDR74", "wd repeat-containing protein 74" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54663 ; - skos:exactMatch HGNC_symbol:WDR74 ; + skos:exactMatch UMLS:C1823838, + HGNC:25529, + HGNC_symbol:WDR74 ; biolink:category biolink:Gene . OMIM:617948 a owl:Class ; @@ -358189,11 +373620,11 @@ OMIM:617948 a owl:Class ; PMID:9005995, PMID:9075575, PMID:9163587 ; - oboInOwl:hasDbXref UMLS:C1866810, - ORPHA:288 ; oboInOwl:hasExactSynonym "EL3", "anemia, perinatal hemolytic, fatal or near-fatal", "elliptocytosis 3" ; + skos:exactMatch UMLS:C1866810, + ORPHA:288 ; biolink:category biolink:Disease . OMIM:617949 a owl:Class ; @@ -358203,13 +373634,14 @@ OMIM:617949 a owl:Class ; PMID:30415212 ; RO:0002525 CHR:9606chr7q21.13 ; RO:0003303 OMIM:617959 ; - oboInOwl:hasDbXref UMLS:C2681248 ; oboInOwl:hasExactSynonym "CFAP69", "chromosome 7 open reading frame 63", "cilia- and flagella-associated protein 69" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79846 ; - skos:exactMatch HGNC_symbol:CFAP69 ; + skos:exactMatch UMLS:C2681248, + HGNC:26107, + HGNC_symbol:CFAP69 ; biolink:category biolink:Gene . OMIM:617953 a owl:Class ; @@ -358218,9 +373650,9 @@ OMIM:617953 a owl:Class ; PMID:6126713, PMID:7476994, PMID:8964838 ; - oboInOwl:hasDbXref UMLS:C1840059 ; oboInOwl:hasExactSynonym "hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency", - "hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of t4" . + "hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of t4" ; + skos:exactMatch UMLS:C1840059 . OMIM:617955 a owl:Class ; rdfs:label "phenytoin toxicity" ; @@ -358241,57 +373673,60 @@ OMIM:617955 a owl:Class ; PMID:7351122, PMID:8723073, PMID:957016 ; - oboInOwl:hasDbXref UMLS:C0149969, - UMLS:C0265372 ; oboInOwl:hasExactSynonym "arene oxide detoxification defect", "diphenylhydantoin, defect 1n hydroxylation of", "fetal hydantoin syndrome", "phenytoin toxicity" ; + skos:exactMatch UMLS:C0149969, + UMLS:C0265372 ; biolink:category biolink:Disease . OMIM:617956 a owl:Class ; rdfs:label "beta-glucopyranoside tasting" ; IAO:0000142 PMID:16051168, PMID:24177185 ; - oboInOwl:hasDbXref UMLS:C4693750 ; oboInOwl:hasExactSynonym "BGLPT", "beta-glucopyranoside tasting" ; + skos:exactMatch UMLS:C4693750 ; biolink:category biolink:Disease . OMIM:617957 a owl:Class ; rdfs:label "LRRIQ3" ; IAO:0000142 PMID:20616063 ; - oboInOwl:hasDbXref UMLS:C1825891 ; oboInOwl:hasExactSynonym "LRRIQ3", "leucine rich repeats- and 1q motif-containing protein 3", "leucine-rich repeat-containing protein 44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127255 ; - skos:exactMatch HGNC_symbol:LRRIQ3 ; + skos:exactMatch UMLS:C1825891, + HGNC:28318, + HGNC_symbol:LRRIQ3 ; biolink:category biolink:Gene . OMIM:617958 a owl:Class ; rdfs:label "ICE1" ; IAO:0000142 PMID:23932780, PMID:29528287 ; - oboInOwl:hasDbXref UMLS:C3892016 ; oboInOwl:hasExactSynonym "ICE1", "interactor of little elongation complex ell subunit 1", "kiaa0947" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23379 ; - skos:exactMatch HGNC_symbol:ICE1 ; + skos:exactMatch UMLS:C3892016, + HGNC:29154, + HGNC_symbol:ICE1 ; biolink:category biolink:Gene . OMIM:617962 a owl:Class ; rdfs:label "ZNF827" ; IAO:0000142 PMID:25150861 ; - oboInOwl:hasDbXref UMLS:C2681144 ; oboInOwl:hasExactSynonym "ZNF827", "zinc finger protein 827" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152485 ; - skos:exactMatch HGNC_symbol:ZNF827 ; + skos:exactMatch UMLS:C2681144, + HGNC:27193, + HGNC_symbol:ZNF827 ; biolink:category biolink:Gene . OMIM:617963 a owl:Class ; @@ -358300,7 +373735,6 @@ OMIM:617963 a owl:Class ; PMID:28536242 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:618110 ; - oboInOwl:hasDbXref UMLS:C1426706 ; oboInOwl:hasExactSynonym "TDRD9", "chromosome 14 open reading frame 75", "homeless, drosophila, homolog of", @@ -358308,32 +373742,36 @@ OMIM:617963 a owl:Class ; "tudor domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122402 ; - skos:exactMatch HGNC_symbol:TDRD9 ; + skos:exactMatch UMLS:C1426706, + HGNC:20122, + HGNC_symbol:TDRD9 ; biolink:category biolink:Gene . OMIM:617968 a owl:Class ; rdfs:label "WDR63" ; IAO:0000142 PMID:25498833, PMID:29285825 ; - oboInOwl:hasDbXref UMLS:C1823827 ; oboInOwl:hasExactSynonym "WDR63", "wd repeat-containing protein 63" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126820 ; - skos:exactMatch HGNC_symbol:DNAI3 ; + skos:exactMatch UMLS:C1823827, + HGNC:30711, + HGNC_symbol:DNAI3 ; biolink:category biolink:Gene . OMIM:617969 a owl:Class ; rdfs:label "CCDC63" ; IAO:0000142 PMID:15937072, PMID:26501274 ; - oboInOwl:hasDbXref UMLS:C1824587 ; oboInOwl:hasExactSynonym "CCDC63", "coiled-coil domain-containing protein 63", "outer row dynein assembly 5, chlamydomonas, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160762 ; - skos:exactMatch HGNC_symbol:CCDC63 ; + skos:exactMatch UMLS:C1824587, + HGNC:26669, + HGNC_symbol:CCDC63 ; biolink:category biolink:Gene . OMIM:617971 a owl:Class ; @@ -358341,8 +373779,8 @@ OMIM:617971 a owl:Class ; IAO:0000142 PMID:13897827, PMID:4311041, PMID:8416301 ; - oboInOwl:hasDbXref UMLS:C4693797 ; oboInOwl:hasExactSynonym "methemoglobinemia, beta iia" ; + skos:exactMatch UMLS:C4693797 ; biolink:category biolink:Disease . OMIM:617972 a owl:Class ; @@ -358350,13 +373788,14 @@ OMIM:617972 a owl:Class ; IAO:0000142 PMID:15603741, PMID:20334580, PMID:27153536 ; - oboInOwl:hasDbXref UMLS:C1427107 ; oboInOwl:hasExactSynonym "ZDHHC20", "dhhc20", "zinc finger dhhc domain-containing protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253832 ; - skos:exactMatch HGNC_symbol:ZDHHC20 ; + skos:exactMatch UMLS:C1427107, + HGNC:20749, + HGNC_symbol:ZDHHC20 ; biolink:category biolink:Gene . OMIM:617973 a owl:Class ; @@ -358364,43 +373803,45 @@ OMIM:617973 a owl:Class ; IAO:0000142 PMID:13897827, PMID:4311041, PMID:8416301 ; - oboInOwl:hasDbXref UMLS:C4693798 ; oboInOwl:hasExactSynonym "methemoglobinemia, alpha iia" ; + skos:exactMatch UMLS:C4693798 ; biolink:category biolink:Disease . OMIM:617975 a owl:Class ; rdfs:label "FAM210A" ; IAO:0000142 PMID:29618611 ; - oboInOwl:hasDbXref UMLS:C3470286 ; oboInOwl:hasExactSynonym "FAM210A", "chromosome 18 open reading frame 19", "family with sequence similarity 210, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125228 ; - skos:exactMatch HGNC_symbol:FAM210A ; + skos:exactMatch UMLS:C3470286, + HGNC:28346, + HGNC_symbol:FAM210A ; biolink:category biolink:Gene . OMIM:617978 a owl:Class ; rdfs:label "FAM49B" ; IAO:0000142 PMID:29059164, PMID:29632189 ; - oboInOwl:hasDbXref UMLS:C1539453 ; oboInOwl:hasExactSynonym "FAM49B", "family with sequence similarity 49, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51571 ; - skos:exactMatch HGNC_symbol:CYRIB ; + skos:exactMatch UMLS:C1539453, + HGNC:25216, + HGNC_symbol:CYRIB ; biolink:category biolink:Gene . OMIM:617979 a owl:Class ; rdfs:label "None" ; IAO:0000142 PMID:29074580 ; - oboInOwl:hasDbXref UMLS:C4693821 ; oboInOwl:hasExactSynonym "lncrna-acod1", "loc105370268", "long noncoding RNA near acod1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105370268 ; + skos:exactMatch UMLS:C4693821 ; biolink:category biolink:Gene . OMIM:617980 a owl:Class ; @@ -358413,12 +373854,12 @@ OMIM:617980 a owl:Class ; PMID:2363414, PMID:5602507, PMID:5764827 ; - oboInOwl:hasDbXref UMLS:C4693822 ; oboInOwl:hasExactSynonym "ECYT6", "erythrocytosis, beta-globin iia", "erythrocytosis, familial, 6", "polycythemia, beta-globin iia" ; rdfs:subClassOf OMIMPS:133100 ; + skos:exactMatch UMLS:C4693822 ; biolink:category biolink:Disease . OMIM:617981 a owl:Class ; @@ -358427,25 +373868,26 @@ OMIM:617981 a owl:Class ; PMID:15921161, PMID:18818920, PMID:5913291 ; - oboInOwl:hasDbXref UMLS:C4693823 ; oboInOwl:hasExactSynonym "ECYT7", "erythrocytosis, alpha-globin iia", "erythrocytosis, familial, 7", "polycythemia, alpha-globin iia" ; rdfs:subClassOf OMIMPS:133100 ; + skos:exactMatch UMLS:C4693823 ; biolink:category biolink:Disease . OMIM:617986 a owl:Class ; rdfs:label "LDLRAD3" ; IAO:0000142 PMID:21795536, PMID:26854353 ; - oboInOwl:hasDbXref UMLS:C1825806 ; oboInOwl:hasExactSynonym "LDLRAD3", "ldlr class a domain-containing protein 3", "low density lipoprotein receptor class a domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143458 ; - skos:exactMatch HGNC_symbol:LDLRAD3 ; + skos:exactMatch UMLS:C1825806, + HGNC:27046, + HGNC_symbol:LDLRAD3 ; biolink:category biolink:Gene . OMIM:617987 a owl:Class ; @@ -358456,7 +373898,6 @@ OMIM:617987 a owl:Class ; PMID:29408807 ; RO:0002525 CHR:9606chr1q24.3 ; RO:0003303 OMIM:605429 ; - oboInOwl:hasDbXref UMLS:C1537454 ; oboInOwl:hasExactSynonym "METTL13", "eef1a lysine and n-terminal methyltransferase", "feat", @@ -358465,14 +373906,15 @@ OMIM:617987 a owl:Class ; "methyltransferase-like 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51603 ; - skos:exactMatch HGNC_symbol:METTL13 ; + skos:exactMatch UMLS:C1537454, + HGNC:24248, + HGNC_symbol:METTL13 ; biolink:category biolink:Gene . OMIM:617989 a owl:Class ; rdfs:label "NAA30" ; IAO:0000142 PMID:19398576, PMID:29247799 ; - oboInOwl:hasDbXref UMLS:C1826356 ; oboInOwl:hasExactSynonym "NAA30", "chromosome 14 open reading frame 35", "mak3, s. cerevisiae, homolog of", @@ -358480,29 +373922,32 @@ OMIM:617989 a owl:Class ; "n-alpha-acetyltransferase 30, natc catalytic subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122830 ; - skos:exactMatch HGNC_symbol:NAA30 ; + skos:exactMatch UMLS:C1826356, + HGNC:19844, + HGNC_symbol:NAA30 ; biolink:category biolink:Gene . OMIM:617990 a owl:Class ; rdfs:label "NAA38" ; IAO:0000142 PMID:19398576 ; - oboInOwl:hasDbXref UMLS:C1825915 ; oboInOwl:hasExactSynonym "NAA38", "lsm domain-containing protein 1", "mak31, s. cerevisiae, homolog of", "n-alpha-acetyltransferase 38, natc auxiliary subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84316 ; - skos:exactMatch HGNC_symbol:NAA38 ; + skos:exactMatch UMLS:C1825915, + HGNC:28212, + HGNC_symbol:NAA38 ; biolink:category biolink:Gene . OMIM:617992 a owl:Class ; rdfs:label "deafness, congenital heart defects, and posterior embryotoxon" ; IAO:0000142 PMID:12022040, PMID:20437614 ; - oboInOwl:hasDbXref UMLS:C1866053 ; oboInOwl:hasExactSynonym "DCHE", "deafness, congenital heart defects, and posterior embryotoxon" ; + skos:exactMatch UMLS:C1866053 ; biolink:category biolink:Disease . OMIM:617997 a owl:Class ; @@ -358510,12 +373955,13 @@ OMIM:617997 a owl:Class ; IAO:0000142 PMID:24981860, PMID:28455245, PMID:29563586 ; - oboInOwl:hasDbXref UMLS:C1826788 ; oboInOwl:hasExactSynonym "RCCD1", "rcc1 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91433 ; - skos:exactMatch HGNC_symbol:RCCD1 ; + skos:exactMatch UMLS:C1826788, + HGNC:30457, + HGNC_symbol:RCCD1 ; biolink:category biolink:Gene . OMIM:617998 a owl:Class ; @@ -358523,50 +373969,54 @@ OMIM:617998 a owl:Class ; IAO:0000142 PMID:19509291, PMID:24003223, PMID:26164232 ; - oboInOwl:hasDbXref UMLS:C1539465 ; oboInOwl:hasExactSynonym "GAREM1", "grb2-associated regulator of erk/mapk", "grb2-associated regulator of mapk1, subtype 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64762 ; - skos:exactMatch HGNC_symbol:GAREM1 ; + skos:exactMatch UMLS:C1539465, + HGNC:26136, + HGNC_symbol:GAREM1 ; biolink:category biolink:Gene . OMIM:617999 a owl:Class ; rdfs:label "GAREM2" ; IAO:0000142 PMID:24003223 ; - oboInOwl:hasDbXref UMLS:C1539466 ; oboInOwl:hasExactSynonym "GAREM2", "grb2-associated regulator of erk/mapk 2", "grb2-associated regulator of mapk1, subtype 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150946 ; - skos:exactMatch HGNC_symbol:GAREM2 ; + skos:exactMatch UMLS:C1539466, + HGNC:27172, + HGNC_symbol:GAREM2 ; biolink:category biolink:Gene . OMIM:618001 a owl:Class ; rdfs:label "RELCH" ; IAO:0000142 PMID:10819331, PMID:29514919 ; - oboInOwl:hasDbXref UMLS:C1428824 ; oboInOwl:hasExactSynonym "RELCH", "kiaa1468", "rab11 effector containing lis1 homology domain, coiled-coil domains, and heat repeats" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57614 ; - skos:exactMatch HGNC_symbol:RELCH ; + skos:exactMatch UMLS:C1428824, + HGNC:29289, + HGNC_symbol:RELCH ; biolink:category biolink:Gene . OMIM:618002 a owl:Class ; rdfs:label "MAST4" ; IAO:0000142 PMID:17086981, PMID:18206861 ; - oboInOwl:hasDbXref UMLS:C1537670 ; oboInOwl:hasExactSynonym "MAST4", "microtubule-associated serine/threonine kinase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375449 ; - skos:exactMatch HGNC_symbol:MAST4 ; + skos:exactMatch UMLS:C1537670, + HGNC:19037, + HGNC_symbol:MAST4 ; biolink:category biolink:Gene . OMIM:618003 a owl:Class ; @@ -358575,10 +374025,10 @@ OMIM:618003 a owl:Class ; PMID:26416264, PMID:26849169, PMID:29048736 ; - oboInOwl:hasDbXref UMLS:C4693893 ; oboInOwl:hasExactSynonym "DFNB57", "deafness, autosomal recessive 57" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4693893 ; biolink:category biolink:Disease . OMIM:618007 a owl:Class ; @@ -358596,7 +374046,6 @@ OMIM:618016 a owl:Class ; PMID:29255062 ; RO:0002525 CHR:9606chr1p21.1 ; RO:0003303 OMIM:618160 ; - oboInOwl:hasDbXref UMLS:C1425692 ; oboInOwl:hasExactSynonym "RNPC3", "kiaa1839", "rna-binding region-containing protein 3", @@ -358604,18 +374053,21 @@ OMIM:618016 a owl:Class ; "u11/u12 snrnp, 65-kd protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55599 ; - skos:exactMatch HGNC_symbol:RNPC3 ; + skos:exactMatch UMLS:C1425692, + HGNC:18666, + HGNC_symbol:RNPC3 ; biolink:category biolink:Gene . OMIM:618017 a owl:Class ; rdfs:label "ANKRD16" ; IAO:0000142 PMID:29769718 ; - oboInOwl:hasDbXref UMLS:C1428088 ; oboInOwl:hasExactSynonym "ANKRD16", "ankyrin repeat domain-containing protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54522 ; - skos:exactMatch HGNC_symbol:ANKRD16 ; + skos:exactMatch UMLS:C1428088, + HGNC:23471, + HGNC_symbol:ANKRD16 ; biolink:category biolink:Gene . OMIM:618019 a owl:Class ; @@ -358631,32 +374083,33 @@ OMIM:618019 a owl:Class ; PMID:25348816, PMID:5880247, PMID:6794302 ; - oboInOwl:hasDbXref UMLS:C4747922 ; oboInOwl:hasExactSynonym "SKPHA", "pelger-huet anomaly with mild skeletal anomalies", "regressive spondylometaphyseal dysplasia", "rhizomelic skeletal dysplasia with or without pelger huet anomaly" ; + skos:exactMatch UMLS:C4747922 ; biolink:category biolink:Disease . OMIM:618020 a owl:Class ; rdfs:label "KLHL22" ; IAO:0000142 PMID:19995937, PMID:29769719 ; - oboInOwl:hasDbXref UMLS:C1825724 ; oboInOwl:hasExactSynonym "KLHL22", "kelch-like 22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84861 ; - skos:exactMatch HGNC_symbol:KLHL22 ; + skos:exactMatch UMLS:C1825724, + HGNC:25888, + HGNC_symbol:KLHL22 ; biolink:category biolink:Gene . OMIM:618022 a owl:Class ; rdfs:label "humerofemoral hypoplasia with radiotibial ray deficiency" ; IAO:0000142 PMID:29769720 ; - oboInOwl:hasDbXref UMLS:C4747940 ; oboInOwl:hasExactSynonym "HHRRD", "hfhrtrd", "humerofemoral hypoplasia with radiotibial ray deficiency" ; + skos:exactMatch UMLS:C4747940 ; biolink:category biolink:Disease . OMIM:618023 a owl:Class ; @@ -358665,7 +374118,6 @@ OMIM:618023 a owl:Class ; PMID:29561261, PMID:29856954, PMID:29856955 ; - oboInOwl:hasDbXref UMLS:C1538481 ; oboInOwl:hasExactSynonym "NOTCH2NLA", "n2n", "notch2 n-terminal-like a", @@ -358673,20 +374125,23 @@ OMIM:618023 a owl:Class ; "notch2nl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388677 ; - skos:exactMatch HGNC_symbol:NOTCH2NLA ; + skos:exactMatch UMLS:C1538481, + HGNC:31862, + HGNC_symbol:NOTCH2NLA ; biolink:category biolink:Gene . OMIM:618024 a owl:Class ; rdfs:label "NOTCH2NLB" ; IAO:0000142 PMID:29856954, PMID:29856955 ; - oboInOwl:hasDbXref UMLS:C4747951 ; oboInOwl:hasExactSynonym "NOTCH2NLB", "notch2 n-terminal-like B", "notch2 n-terminal-like protein B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100996763 ; - skos:exactMatch HGNC_symbol:NOTCH2NLB ; + skos:exactMatch UMLS:C4747951, + HGNC:53923, + HGNC_symbol:NOTCH2NLB ; biolink:category biolink:Gene . OMIM:618025 a owl:Class ; @@ -358702,15 +374157,16 @@ OMIM:618025 a owl:Class ; PMID:33693509 ; RO:0002525 CHR:9606chr1q21.2 ; RO:0003303 OMIM:618866 ; - oboInOwl:hasDbXref UMLS:C1863843, - UMLS:C4747952, - UMLS:C5394329 ; oboInOwl:hasExactSynonym "NOTCH2NLC", "notch2 n-terminal-like c", "notch2 n-terminal-like protein c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100996717 ; - skos:exactMatch HGNC_symbol:NOTCH2NLC ; + skos:exactMatch UMLS:C1863843, + UMLS:C4747952, + UMLS:C5394329, + HGNC:53924, + HGNC_symbol:NOTCH2NLC ; biolink:category biolink:Gene . OMIM:618028 a owl:Class ; @@ -358719,14 +374175,15 @@ OMIM:618028 a owl:Class ; PMID:30022158, PMID:30022168, PMID:30046110 ; - oboInOwl:hasDbXref UMLS:C1824502 ; oboInOwl:hasExactSynonym "SHLD1", "chromosome 20 open reading frame 196", "rinn1/rev7-interacting novel nonhomologous end-joining regulator 3", "shield complex, subunit 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149840 ; - skos:exactMatch HGNC_symbol:SHLD1 ; + skos:exactMatch UMLS:C1824502, + HGNC:26318, + HGNC_symbol:SHLD1 ; biolink:category biolink:Gene . OMIM:618029 a owl:Class ; @@ -358735,14 +374192,15 @@ OMIM:618029 a owl:Class ; PMID:30022158, PMID:30022168, PMID:30046110 ; - oboInOwl:hasDbXref UMLS:C1539423 ; oboInOwl:hasExactSynonym "SHLD2", "family with sequence similarity 35, member a", "rinn1/rev7-interacting novel nonhomologous end-joining regulator 2", "shield complex, subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54537 ; - skos:exactMatch HGNC_symbol:SHLD2 ; + skos:exactMatch UMLS:C1539423, + HGNC:28773, + HGNC_symbol:SHLD2 ; biolink:category biolink:Gene . OMIM:618030 a owl:Class ; @@ -358751,95 +374209,101 @@ OMIM:618030 a owl:Class ; PMID:30022158, PMID:30022168, PMID:30046110 ; - oboInOwl:hasDbXref UMLS:C4747960 ; oboInOwl:hasExactSynonym "SHLD3", "rev7-interacting novel nonhomologous end-joining regulator 1", "shield complex, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112441434 ; - skos:exactMatch HGNC_symbol:SHLD3 ; + skos:exactMatch UMLS:C4747960, + HGNC:53826, + HGNC_symbol:SHLD3 ; biolink:category biolink:Gene . OMIM:618031 a owl:Class ; rdfs:label "corneal dystrophy, posterior polymorphous, 4" ; IAO:0000142 PMID:29499165 ; - oboInOwl:hasDbXref UMLS:C4747961 ; oboInOwl:hasExactSynonym "PPCD4", "corneal dystrophy, posterior polymorphous, 4" ; rdfs:subClassOf OMIMPS:122000 ; + skos:exactMatch UMLS:C4747961 ; biolink:category biolink:Disease . OMIM:618032 a owl:Class ; rdfs:label "ZNF768" ; IAO:0000142 PMID:25875936 ; - oboInOwl:hasDbXref UMLS:C1824042 ; oboInOwl:hasExactSynonym "ZNF768", "zinc finger protein 768" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79724 ; - skos:exactMatch HGNC_symbol:ZNF768 ; + skos:exactMatch UMLS:C1824042, + HGNC:26273, + HGNC_symbol:ZNF768 ; biolink:category biolink:Gene . OMIM:618033 a owl:Class ; rdfs:label "ZNF689" ; IAO:0000142 PMID:16568080 ; - oboInOwl:hasDbXref UMLS:C1823990 ; oboInOwl:hasExactSynonym "ZNF689", "transcription-involved protein upregulated 1n hepatocellular carcinoma 1", "zinc finger protein 689" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115509 ; - skos:exactMatch HGNC_symbol:ZNF689 ; + skos:exactMatch UMLS:C1823990, + HGNC:25173, + HGNC_symbol:ZNF689 ; biolink:category biolink:Gene . OMIM:618034 a owl:Class ; rdfs:label "SLC43A3" ; IAO:0000142 PMID:11704567, PMID:26455426 ; - oboInOwl:hasDbXref UMLS:C1424975 ; oboInOwl:hasExactSynonym "SLC43A3", "embryonic epithelia gene 1", "equilibrative nucleobase transporter 1", "solute carrier family 43, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29015 ; - skos:exactMatch HGNC_symbol:SLC43A3 ; + skos:exactMatch UMLS:C1424975, + HGNC:17466, + HGNC_symbol:SLC43A3 ; biolink:category biolink:Gene . OMIM:618035 a owl:Class ; rdfs:label "TBC1D9" ; IAO:0000142 PMID:10048485, PMID:19077034 ; - oboInOwl:hasDbXref UMLS:C1823242 ; oboInOwl:hasExactSynonym "TBC1D9", "kiaa0882", "tbc1 domain family, member 9", "tbc1d9a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23158 ; - skos:exactMatch HGNC_symbol:TBC1D9 ; + skos:exactMatch UMLS:C1823242, + HGNC:21710, + HGNC_symbol:TBC1D9 ; biolink:category biolink:Gene . OMIM:618036 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2dd" ; IAO:0000142 PMID:29499166 ; - oboInOwl:hasDbXref UMLS:C4747974 ; oboInOwl:hasExactSynonym "CMT2DD", "charcot-marie-tooth disease, axonal, iia 2dd", "charcot-marie-tooth neuropathy, iia 2dd" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4747974 ; biolink:category biolink:Disease . OMIM:618037 a owl:Class ; rdfs:label "ZNF536" ; IAO:0000142 PMID:19398580 ; - oboInOwl:hasDbXref UMLS:C1428779 ; oboInOwl:hasExactSynonym "ZNF536", "kiaa0390", "zinc finger protein 536" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9745 ; - skos:exactMatch HGNC_symbol:ZNF536 ; + skos:exactMatch UMLS:C1428779, + HGNC:29025, + HGNC_symbol:ZNF536 ; biolink:category biolink:Gene . OMIM:618038 a owl:Class ; @@ -358847,7 +374311,6 @@ OMIM:618038 a owl:Class ; IAO:0000142 PMID:18812090, PMID:21771883, PMID:29742103 ; - oboInOwl:hasDbXref UMLS:C1428602 ; oboInOwl:hasExactSynonym "SHOC1", "chromosome 9 open reading frame 84", "shortage 1n chiasmata 1", @@ -358855,48 +374318,53 @@ OMIM:618038 a owl:Class ; "zip2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158401 ; - skos:exactMatch HGNC_symbol:SHOC1 ; + skos:exactMatch UMLS:C1428602, + HGNC:26535, + HGNC_symbol:SHOC1 ; biolink:category biolink:Gene . OMIM:618039 a owl:Class ; rdfs:label "TBC1D9B" ; IAO:0000142 PMID:19077034, PMID:9734811 ; - oboInOwl:hasDbXref UMLS:C1823243 ; oboInOwl:hasExactSynonym "TBC1D9B", "kiaa0676", "tbc1 domain family, member 9b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23061 ; - skos:exactMatch HGNC_symbol:TBC1D9B ; + skos:exactMatch UMLS:C1823243, + HGNC:29097, + HGNC_symbol:TBC1D9B ; biolink:category biolink:Gene . OMIM:618040 a owl:Class ; rdfs:label "DGCR5" ; IAO:0000142 PMID:29393141, PMID:8659529 ; - oboInOwl:hasDbXref UMLS:C1424521 ; oboInOwl:hasExactSynonym "DGCR5", "digeorge syndrome critical region gene 5", "long intergenic noncoding RNA 37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26220 ; - skos:exactMatch HGNC_symbol:DGCR5 ; + skos:exactMatch UMLS:C1424521, + HGNC:16757, + HGNC_symbol:DGCR5 ; biolink:category biolink:Gene . OMIM:618041 a owl:Class ; rdfs:label "PURG" ; IAO:0000142 PMID:12034829 ; - oboInOwl:hasDbXref UMLS:C1425184, - UMLS:C4749150, - UMLS:C4749151 ; oboInOwl:hasExactSynonym "PURG", "purga", "purgb", "purine-rich element-binding protein g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29942 ; - skos:exactMatch HGNC_symbol:PURG ; + skos:exactMatch UMLS:C1425184, + UMLS:C4749150, + UMLS:C4749151, + HGNC:17930, + HGNC_symbol:PURG ; biolink:category biolink:Gene . OMIM:618042 a owl:Class ; @@ -358904,9 +374372,9 @@ OMIM:618042 a owl:Class ; IAO:0000142 PMID:16423278, PMID:29185156, PMID:29455859 ; - oboInOwl:hasDbXref UMLS:C4747984 ; oboInOwl:hasExactSynonym "PAPHG", "pulmonary alveolar proteinosis with hypogammaglobulinemia" ; + skos:exactMatch UMLS:C4747984 ; biolink:category biolink:Disease . OMIM:618043 a owl:Class ; @@ -358914,7 +374382,6 @@ OMIM:618043 a owl:Class ; IAO:0000142 PMID:18323601, PMID:7908264, PMID:8102789 ; - oboInOwl:hasDbXref UMLS:C1418771 ; oboInOwl:hasExactSynonym "POU6F1", "brn5", "mpou", @@ -358923,7 +374390,9 @@ OMIM:618043 a owl:Class ; "tcf-beta-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5463 ; - skos:exactMatch HGNC_symbol:POU6F1 ; + skos:exactMatch UMLS:C1418771, + HGNC:9224, + HGNC_symbol:POU6F1 ; biolink:category biolink:Gene . OMIM:618044 a owl:Class ; @@ -358931,14 +374400,15 @@ OMIM:618044 a owl:Class ; IAO:0000142 PMID:21907143, PMID:29378832, PMID:9628581 ; - oboInOwl:hasDbXref UMLS:C3542833 ; oboInOwl:hasExactSynonym "C2CD5", "c2 calcium-dependent domain-containing protein 5", "c2 domain-containing phosphoprotein, 138-kd", "kiaa0528" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9847 ; - skos:exactMatch HGNC_symbol:C2CD5 ; + skos:exactMatch UMLS:C3542833, + HGNC:29062, + HGNC_symbol:C2CD5 ; biolink:category biolink:Gene . OMIM:618045 a owl:Class ; @@ -358946,14 +374416,15 @@ OMIM:618045 a owl:Class ; IAO:0000142 PMID:17515607, PMID:24214091, PMID:27412911 ; - oboInOwl:hasDbXref UMLS:C2240301 ; oboInOwl:hasExactSynonym "DDIAS", "DNA damage-induced apoptosis suppressor", "chromosome 11 open reading frame 82", "nitric oxide-inducible gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220042 ; - skos:exactMatch HGNC_symbol:DDIAS ; + skos:exactMatch UMLS:C2240301, + HGNC:26351, + HGNC_symbol:DDIAS ; biolink:category biolink:Gene . OMIM:618046 a owl:Class ; @@ -358962,26 +374433,28 @@ OMIM:618046 a owl:Class ; PMID:17601748, PMID:28656349, PMID:29632183 ; - oboInOwl:hasDbXref UMLS:C1417984 ; oboInOwl:hasExactSynonym "OR1A1", "olfactory receptor, family 1, subfamily a, member 1", "or17-7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8383 ; - skos:exactMatch HGNC_symbol:OR1A1 ; + skos:exactMatch UMLS:C1417984, + HGNC:8179, + HGNC_symbol:OR1A1 ; biolink:category biolink:Gene . OMIM:618047 a owl:Class ; rdfs:label "OR1A2" ; IAO:0000142 PMID:10673334, PMID:17601748 ; - oboInOwl:hasDbXref UMLS:C1417985 ; oboInOwl:hasExactSynonym "OR1A2", "olfactory receptor, family 1, subfamily a, member 2", "or17-6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26189 ; - skos:exactMatch HGNC_symbol:OR1A2 ; + skos:exactMatch UMLS:C1417985, + HGNC:8180, + HGNC_symbol:OR1A2 ; biolink:category biolink:Gene . OMIM:618051 a owl:Class ; @@ -358992,26 +374465,28 @@ OMIM:618051 a owl:Class ; PMID:29420262 ; RO:0002525 CHR:9606chr1q32.1 ; RO:0003303 OMIM:618077 ; - oboInOwl:hasDbXref UMLS:C1823726 ; oboInOwl:hasExactSynonym "INAVA", "chromosome 1 open reading frame 106", "innate immunity activator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55765 ; - skos:exactMatch HGNC_symbol:INAVA ; + skos:exactMatch UMLS:C1823726, + HGNC:25599, + HGNC_symbol:INAVA ; biolink:category biolink:Gene . OMIM:618053 a owl:Class ; rdfs:label "ARLNC1" ; IAO:0000142 PMID:29808028 ; - oboInOwl:hasDbXref UMLS:C4320336 ; oboInOwl:hasExactSynonym "ARLNC1", "androgen receptor-regulated long noncoding RNA 1", "ar-regulated lncrna 1", "long intergenic noncoding RNA 2170" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100996425 ; - skos:exactMatch HGNC_symbol:ARLNC1 ; + skos:exactMatch UMLS:C4320336, + HGNC:53032, + HGNC_symbol:ARLNC1 ; biolink:category biolink:Gene . OMIM:618054 a owl:Class ; @@ -359019,14 +374494,15 @@ OMIM:618054 a owl:Class ; IAO:0000142 PMID:10470851, PMID:29329397, PMID:30080879 ; - oboInOwl:hasDbXref UMLS:C2239559 ; oboInOwl:hasExactSynonym "MINAR1", "kiaa1024", "major intrinsically disordered notch2-binding receptor 1", "membrane integral notch2-associated receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23251 ; - skos:exactMatch HGNC_symbol:MINAR1 ; + skos:exactMatch UMLS:C2239559, + HGNC:29172, + HGNC_symbol:MINAR1 ; biolink:category biolink:Gene . OMIM:618055 a owl:Class ; @@ -359035,13 +374511,14 @@ OMIM:618055 a owl:Class ; PMID:21263217, PMID:21872252, PMID:9710587 ; - oboInOwl:hasDbXref UMLS:C1539137 ; oboInOwl:hasExactSynonym "CREG1", "cellular repressor of e1a-stimulated genes 1", "creg" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8804 ; - skos:exactMatch HGNC_symbol:CREG1 ; + skos:exactMatch UMLS:C1539137, + HGNC:2351, + HGNC_symbol:CREG1 ; biolink:category biolink:Gene . OMIM:618056 a owl:Class ; @@ -359049,9 +374526,9 @@ OMIM:618056 a owl:Class ; IAO:0000142 PMID:26483087, PMID:26494257, PMID:27282546 ; - oboInOwl:hasDbXref UMLS:C4748032 ; oboInOwl:hasExactSynonym "NEDCAS", "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" ; + skos:exactMatch UMLS:C4748032 ; biolink:category biolink:Disease . OMIM:618058 a owl:Class ; @@ -359060,25 +374537,27 @@ OMIM:618058 a owl:Class ; PMID:29727693 ; RO:0002525 CHR:9606chr11q22.1 ; RO:0003303 OMIM:618063 ; - oboInOwl:hasDbXref UMLS:C1824336, - UMLS:C4748052 ; oboInOwl:hasExactSynonym "CFAP300", "chromosome 11 open reading frame 70", "cilia- and flagella-associated protein 300" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85016 ; - skos:exactMatch HGNC_symbol:CFAP300 ; + skos:exactMatch UMLS:C1824336, + UMLS:C4748052, + HGNC:28188, + HGNC_symbol:CFAP300 ; biolink:category biolink:Gene . OMIM:618059 a owl:Class ; rdfs:label "WDR25" ; IAO:0000142 PMID:15587985 ; - oboInOwl:hasDbXref UMLS:C1823821 ; oboInOwl:hasExactSynonym "WDR25", "wd repeat-containing protein 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79446 ; - skos:exactMatch HGNC_symbol:WDR25 ; + skos:exactMatch UMLS:C1823821, + HGNC:21064, + HGNC_symbol:WDR25 ; biolink:category biolink:Gene . OMIM:618062 a owl:Class ; @@ -359088,13 +374567,14 @@ OMIM:618062 a owl:Class ; PMID:19026612, PMID:8601434, PMID:8665901 ; - oboInOwl:hasDbXref UMLS:C1424625 ; oboInOwl:hasExactSynonym "CRISP3", "cysteine-rich secretory protein 3", "specific granule protein, 28-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10321 ; - skos:exactMatch HGNC_symbol:CRISP3 ; + skos:exactMatch UMLS:C1424625, + HGNC:16904, + HGNC_symbol:CRISP3 ; biolink:category biolink:Gene . OMIM:618064 a owl:Class ; @@ -359104,19 +374584,19 @@ OMIM:618064 a owl:Class ; PMID:29381136 ; RO:0002525 CHR:9606chr14q24.2 ; RO:0003303 OMIM:619355 ; - oboInOwl:hasDbXref UMLS:C1426780 ; oboInOwl:hasExactSynonym "COX16", "cox16, s. cerevisiae, homolog of", "cytochrome c oxidase assembly factor 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51241 ; - skos:exactMatch HGNC_symbol:COX16 ; + skos:exactMatch UMLS:C1426780, + HGNC:20213, + HGNC_symbol:COX16 ; biolink:category biolink:Gene . OMIM:618066 a owl:Class ; rdfs:label "HOXBAS1" ; IAO:0000142 PMID:29716997 ; - oboInOwl:hasDbXref UMLS:C3470479 ; oboInOwl:hasExactSynonym "HOXBAS1", "homeobox B cluster antisense RNA 1, noncoding", "hoxb cluster antisense RNA 1", @@ -359125,20 +374605,23 @@ OMIM:618066 a owl:Class ; "long noncoding RNA hoxbas1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100874362 ; - skos:exactMatch HGNC_symbol:HOXB-AS1 ; + skos:exactMatch UMLS:C3470479, + HGNC:43744, + HGNC_symbol:HOXB-AS1 ; biolink:category biolink:Gene . OMIM:618068 a owl:Class ; rdfs:label "SPZ1" ; IAO:0000142 PMID:15226296, PMID:15899793 ; - oboInOwl:hasDbXref UMLS:C1823123 ; oboInOwl:hasExactSynonym "SPZ1", "protein phosphatase 1, regulatory subunit 148", "spermatogenic leucine zipper protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84654 ; - skos:exactMatch HGNC_symbol:SPZ1 ; + skos:exactMatch UMLS:C1823123, + HGNC:30721, + HGNC_symbol:SPZ1 ; biolink:category biolink:Gene . OMIM:618069 a owl:Class ; @@ -359148,14 +374631,15 @@ OMIM:618069 a owl:Class ; PMID:21233283, PMID:26608607, PMID:27013054 ; - oboInOwl:hasDbXref UMLS:C1425262 ; oboInOwl:hasExactSynonym "CNOT6L", "ccr4, s. cerevisiae, homolog of, B", "ccr4-not transcription complex, subunit 6-like", "cnot6-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246175 ; - skos:exactMatch HGNC_symbol:CNOT6L ; + skos:exactMatch UMLS:C1425262, + HGNC:18042, + HGNC_symbol:CNOT6L ; biolink:category biolink:Gene . OMIM:618070 a owl:Class ; @@ -359163,12 +374647,13 @@ OMIM:618070 a owl:Class ; IAO:0000142 PMID:12384298, PMID:12947086, PMID:16192400 ; - oboInOwl:hasDbXref UMLS:C1425404 ; oboInOwl:hasExactSynonym "ATP6V1C2", "atpase, h+ transporting, lysosomal, 42-kd, v1 subunit c, isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245973 ; - skos:exactMatch HGNC_symbol:ATP6V1C2 ; + skos:exactMatch UMLS:C1425404, + HGNC:18264, + HGNC_symbol:ATP6V1C2 ; biolink:category biolink:Gene . OMIM:618071 a owl:Class ; @@ -359176,12 +374661,13 @@ OMIM:618071 a owl:Class ; IAO:0000142 PMID:12384298, PMID:12947086, PMID:16192400 ; - oboInOwl:hasDbXref UMLS:C1425405 ; oboInOwl:hasExactSynonym "ATP6V1G3", "atpase, h+ transporting, lysosomal, 13-kd, v1 subunit g, isoform 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127124 ; - skos:exactMatch HGNC_symbol:ATP6V1G3 ; + skos:exactMatch UMLS:C1425405, + HGNC:18265, + HGNC_symbol:ATP6V1G3 ; biolink:category biolink:Gene . OMIM:618072 a owl:Class ; @@ -359191,12 +374677,13 @@ OMIM:618072 a owl:Class ; PMID:16192400, PMID:17128270, PMID:19113919 ; - oboInOwl:hasDbXref UMLS:C1425406 ; oboInOwl:hasExactSynonym "ATP6V0D2", "atpase, h+ transporting, lysosomal, 38-kd, v0 subunit d, isoform 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:245972 ; - skos:exactMatch HGNC_symbol:ATP6V0D2 ; + skos:exactMatch UMLS:C1425406, + HGNC:18266, + HGNC_symbol:ATP6V0D2 ; biolink:category biolink:Gene . OMIM:618073 a owl:Class ; @@ -359205,22 +374692,23 @@ OMIM:618073 a owl:Class ; PMID:29939203 ; RO:0002525 CHR:9606chr8q24.11-q24.12 ; RO:0003303 OMIM:601068 ; - oboInOwl:hasDbXref UMLS:C1539725 ; oboInOwl:hasExactSynonym "SAMD12", "sam domain-containing protein 12", "sterile alpha motif domain-containing protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401474 ; - skos:exactMatch HGNC_symbol:SAMD12 ; + skos:exactMatch UMLS:C1539725, + HGNC:31750, + HGNC_symbol:SAMD12 ; biolink:category biolink:Gene . OMIM:618078 a owl:Class ; rdfs:label "ovarian dysgenesis 6" ; IAO:0000142 PMID:26485283 ; - oboInOwl:hasDbXref UMLS:C4748084 ; oboInOwl:hasExactSynonym "ODG6", "ovarian dysgenesis 6" ; rdfs:subClassOf OMIMPS:233300 ; + skos:exactMatch UMLS:C4748084 ; biolink:category biolink:Disease . OMIM:618080 a owl:Class ; @@ -359228,13 +374716,14 @@ OMIM:618080 a owl:Class ; IAO:0000142 PMID:11739631, PMID:25736436, PMID:27026195 ; - oboInOwl:hasDbXref UMLS:C1426945 ; oboInOwl:hasExactSynonym "WDFY1", "fyve domain-containing protein localized to endosomes 1", "wd repeat-and fyve domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57590 ; - skos:exactMatch HGNC_symbol:WDFY1 ; + skos:exactMatch UMLS:C1426945, + HGNC:20451, + HGNC_symbol:WDFY1 ; biolink:category biolink:Gene . OMIM:618081 a owl:Class ; @@ -359242,12 +374731,13 @@ OMIM:618081 a owl:Class ; IAO:0000142 PMID:18654634, PMID:27353377, PMID:29431694 ; - oboInOwl:hasDbXref UMLS:C2681612 ; oboInOwl:hasExactSynonym "ILDR2", "immunoglobulin-like domain-containing receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387597 ; - skos:exactMatch HGNC_symbol:ILDR2 ; + skos:exactMatch UMLS:C2681612, + HGNC:18131, + HGNC_symbol:ILDR2 ; biolink:category biolink:Gene . OMIM:618082 a owl:Class ; @@ -359255,13 +374745,14 @@ OMIM:618082 a owl:Class ; IAO:0000142 PMID:11162572, PMID:25301780, PMID:25301781 ; - oboInOwl:hasDbXref UMLS:C1428508 ; oboInOwl:hasExactSynonym "WDR33", "wd repeat-containing protein 33", "wd repeat-containing protein, 146-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55339 ; - skos:exactMatch HGNC_symbol:WDR33 ; + skos:exactMatch UMLS:C1428508, + HGNC:25651, + HGNC_symbol:WDR33 ; biolink:category biolink:Gene . OMIM:618083 a owl:Class ; @@ -359272,14 +374763,15 @@ OMIM:618083 a owl:Class ; PMID:27314904 ; RO:0002525 CHR:9606chr12p12.3 ; RO:0003303 OMIM:619227 ; - oboInOwl:hasDbXref UMLS:C1424299 ; oboInOwl:hasExactSynonym "WBP11", "npw38-binding protein", "splicing factor that interacts with pqbp1 and pp1", "ww-binding protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51729 ; - skos:exactMatch HGNC_symbol:WBP11 ; + skos:exactMatch UMLS:C1424299, + HGNC:16461, + HGNC_symbol:WBP11 ; biolink:category biolink:Gene . OMIM:618085 a owl:Class ; @@ -359289,14 +374781,15 @@ OMIM:618085 a owl:Class ; PMID:30298696 ; RO:0002525 CHR:9606chr16q22.2 ; RO:0003303 OMIM:618112 ; - oboInOwl:hasDbXref UMLS:C1425049 ; oboInOwl:hasExactSynonym "PMFBP1", "pmf1-binding protein 1", "polyamine-modulated factor 1-binding protein 1", "sperm tail-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83449 ; - skos:exactMatch HGNC_symbol:PMFBP1 ; + skos:exactMatch UMLS:C1425049, + HGNC:17728, + HGNC_symbol:PMFBP1 ; biolink:category biolink:Gene . OMIM:618093 a owl:Class ; @@ -359308,60 +374801,61 @@ OMIM:618093 a owl:Class ; PMID:32285148, PMID:32337344, PMID:33417001 ; - oboInOwl:hasDbXref UMLS:C4748158 ; oboInOwl:hasExactSynonym "SCA48", "spinocerebellar ataxia 48" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C4748158 ; biolink:category biolink:Disease . OMIM:618094 a owl:Class ; rdfs:label "deafness, autosomal recessive 110" ; IAO:0000142 PMID:29449721 ; - oboInOwl:hasDbXref UMLS:C4748162 ; oboInOwl:hasExactSynonym "DFNB110", "deafness, autosomal recessive 110" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4748162 ; biolink:category biolink:Disease . OMIM:618095 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 63" ; IAO:0000142 PMID:29784083 ; - oboInOwl:hasDbXref UMLS:C4748167 ; oboInOwl:hasExactSynonym "MRT63", "intellectual developmental disorder, autosomal recessive 63", "mental retardation, autosomal recessive 63" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4748167 ; biolink:category biolink:Disease . OMIM:618096 a owl:Class ; rdfs:label "premature ovarian failure 15" ; IAO:0000142 PMID:29231814 ; - oboInOwl:hasDbXref UMLS:C4748170 ; oboInOwl:hasExactSynonym "POF15", "premature ovarian failure 15" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C4748170 ; biolink:category biolink:Disease . OMIM:618098 a owl:Class ; rdfs:label "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5" ; IAO:0000142 PMID:29290614 ; - oboInOwl:hasDbXref UMLS:C4748184 ; oboInOwl:hasExactSynonym "PEOB5", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5", "progressive external ophthalmoplegia, autosomal recessive 5" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C4748184 ; biolink:category biolink:Disease . OMIM:618099 a owl:Class ; rdfs:label "MRM1" ; IAO:0000142 PMID:24036117, PMID:25074936 ; - oboInOwl:hasDbXref UMLS:C1826283 ; oboInOwl:hasExactSynonym "MRM1", "mitochondrial ribosomal RNA methyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79922 ; - skos:exactMatch HGNC_symbol:MRM1 ; + skos:exactMatch UMLS:C1826283, + HGNC:26202, + HGNC_symbol:MRM1 ; biolink:category biolink:Gene . OMIM:618100 a owl:Class ; @@ -359369,38 +374863,41 @@ OMIM:618100 a owl:Class ; IAO:0000142 PMID:16631601, PMID:22306510, PMID:26165189 ; - oboInOwl:hasDbXref UMLS:C1826277 ; oboInOwl:hasExactSynonym "MPV17L", "mpv17 mitochondrial inner membrane protein-like", "mpv17-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255027 ; - skos:exactMatch HGNC_symbol:MPV17L ; + skos:exactMatch UMLS:C1826277, + HGNC:26827, + HGNC_symbol:MPV17L ; biolink:category biolink:Gene . OMIM:618101 a owl:Class ; rdfs:label "MMP27" ; IAO:0000142 PMID:24548619, PMID:24810263 ; - oboInOwl:hasDbXref UMLS:C1422511 ; oboInOwl:hasExactSynonym "MMP27", "matrix metalloproteinase 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64066 ; - skos:exactMatch HGNC_symbol:MMP27 ; + skos:exactMatch UMLS:C1422511, + HGNC:14250, + HGNC_symbol:MMP27 ; biolink:category biolink:Gene . OMIM:618102 a owl:Class ; rdfs:label "SIMC1" ; IAO:0000142 PMID:23086935, PMID:23707407 ; - oboInOwl:hasDbXref UMLS:C1824186 ; oboInOwl:hasExactSynonym "SIMC1", "platform element for inhibition of autolytic degradation", "sumo-interacting motifs-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375484 ; - skos:exactMatch HGNC_symbol:SIMC1 ; + skos:exactMatch UMLS:C1824186, + HGNC:24779, + HGNC_symbol:SIMC1 ; biolink:category biolink:Gene . OMIM:618104 a owl:Class ; @@ -359409,7 +374906,6 @@ OMIM:618104 a owl:Class ; PMID:10814502, PMID:15121861, PMID:15294904 ; - oboInOwl:hasDbXref UMLS:C1826261 ; oboInOwl:hasExactSynonym "MMEL1", "membrane metalloendopeptidase-like 1", "neprilysin 2", @@ -359417,19 +374913,22 @@ OMIM:618104 a owl:Class ; "soluble secreted endopeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79258 ; - skos:exactMatch HGNC_symbol:MMEL1 ; + skos:exactMatch UMLS:C1826261, + HGNC:14668, + HGNC_symbol:MMEL1 ; biolink:category biolink:Gene . OMIM:618105 a owl:Class ; rdfs:label "SIGLEC15" ; IAO:0000142 PMID:17483134, PMID:23035012 ; - oboInOwl:hasDbXref UMLS:C1428655 ; oboInOwl:hasExactSynonym "SIGLEC15", "sialic acid-binding immunoglobulin-like lectin 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284266 ; - skos:exactMatch HGNC_symbol:SIGLEC15 ; + skos:exactMatch UMLS:C1428655, + HGNC:27596, + HGNC_symbol:SIGLEC15 ; biolink:category biolink:Gene . OMIM:618111 a owl:Class ; @@ -359437,13 +374936,14 @@ OMIM:618111 a owl:Class ; IAO:0000142 PMID:18430783, PMID:23857586, PMID:27353377 ; - oboInOwl:hasDbXref UMLS:C1423846 ; oboInOwl:hasExactSynonym "ZFP64", "zinc finger protein 338", "zinc finger protein 64" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55734 ; - skos:exactMatch HGNC_symbol:ZFP64 ; + skos:exactMatch UMLS:C1423846, + HGNC:15940, + HGNC_symbol:ZFP64 ; biolink:category biolink:Gene . OMIM:618114 a owl:Class ; @@ -359452,55 +374952,57 @@ OMIM:618114 a owl:Class ; PMID:17634077, PMID:7550319, PMID:8521520 ; - oboInOwl:hasDbXref UMLS:C4748251, - ORPHA:526 ; oboInOwl:hasExactSynonym "LIDLS2", "liddle syndrome 2" ; rdfs:subClassOf OMIMPS:177200 ; + skos:exactMatch UMLS:C4748251, + ORPHA:526 ; biolink:category biolink:Disease . OMIM:618118 a owl:Class ; rdfs:label "EML3" ; IAO:0000142 PMID:18445686 ; - oboInOwl:hasDbXref UMLS:C1825051 ; oboInOwl:hasExactSynonym "EML3", "echinoderm microtubule-associated protein 3", "echinoderm microtubule-associated protein, 95-kd", "echinoderm microtubule-associated protein-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256364 ; - skos:exactMatch HGNC_symbol:EML3 ; + skos:exactMatch UMLS:C1825051, + HGNC:26666, + HGNC_symbol:EML3 ; biolink:category biolink:Gene . OMIM:618119 a owl:Class ; rdfs:label "EML5" ; IAO:0000142 PMID:15225882 ; - oboInOwl:hasDbXref UMLS:C1425373 ; oboInOwl:hasExactSynonym "EML5", "echinoderm microtubule-associated protein-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161436 ; - skos:exactMatch HGNC_symbol:EML5 ; + skos:exactMatch UMLS:C1425373, + HGNC:18197, + HGNC_symbol:EML5 ; biolink:category biolink:Gene . OMIM:618121 a owl:Class ; rdfs:label "ATP5PD" ; IAO:0000142 PMID:30124467, PMID:7509337 ; - oboInOwl:hasDbXref UMLS:C1412666 ; oboInOwl:hasExactSynonym "ATP5PD", "atp synthase peripheral stalk, subunit d", "atp synthase, h+ transporting, mitochondrial f0 complex, subunit d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10476 ; - skos:exactMatch HGNC_symbol:ATP5PD ; + skos:exactMatch UMLS:C1412666, + HGNC:845, + HGNC_symbol:ATP5PD ; biolink:category biolink:Gene . OMIM:618122 a owl:Class ; rdfs:label "MTREX" ; IAO:0000142 PMID:17412707, PMID:17542649 ; - oboInOwl:hasDbXref UMLS:C1539776 ; oboInOwl:hasExactSynonym "MTREX", "kiaa0052", "mtr4 exosome RNA helicase", @@ -359509,44 +375011,46 @@ OMIM:618122 a owl:Class ; "superkiller viralicidic activity 2-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23517 ; - skos:exactMatch HGNC_symbol:MTREX ; + skos:exactMatch UMLS:C1539776, + HGNC:18734, + HGNC_symbol:MTREX ; biolink:category biolink:Gene . OMIM:618123 a owl:Class ; rdfs:label "polydactyly, postaxial, iia a8" ; IAO:0000142 PMID:28973407 ; - oboInOwl:hasDbXref UMLS:C4748277 ; oboInOwl:hasExactSynonym "PAPA8", "polydactyly, postaxial, iia a8" ; rdfs:subClassOf OMIMPS:174200 ; + skos:exactMatch UMLS:C4748277 ; biolink:category biolink:Disease . OMIM:618125 a owl:Class ; rdfs:label "CCDC155" ; IAO:0000142 PMID:22826121, PMID:24062341 ; - oboInOwl:hasDbXref UMLS:C2681331 ; oboInOwl:hasExactSynonym "CCDC155", "coiled-coil domain-containing protein 155", "kash domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147872 ; - skos:exactMatch HGNC_symbol:KASH5 ; + skos:exactMatch UMLS:C2681331, + HGNC:26520, + HGNC_symbol:KASH5 ; biolink:category biolink:Gene . OMIM:618126 a owl:Class ; rdfs:label "liddle syndrome 3" ; IAO:0000142 PMID:28710092 ; - oboInOwl:hasDbXref UMLS:C4748292 ; oboInOwl:hasExactSynonym "LIDLS3", "liddle syndrome 3" ; rdfs:subClassOf OMIMPS:177200 ; + skos:exactMatch UMLS:C4748292 ; biolink:category biolink:Disease . OMIM:618127 a owl:Class ; rdfs:label "COX6B2" ; IAO:0000142 PMID:12874793 ; - oboInOwl:hasDbXref UMLS:C1539129 ; oboInOwl:hasExactSynonym "COX6B2", "cancer/testis antigen 59", "cytochrome c oxidase, subunit 6b2", @@ -359554,7 +375058,9 @@ OMIM:618127 a owl:Class ; "cytochrome c oxidase, subunit vib, testis-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125965 ; - skos:exactMatch HGNC_symbol:COX6B2 ; + skos:exactMatch UMLS:C1539129, + HGNC:24380, + HGNC_symbol:COX6B2 ; biolink:category biolink:Gene . OMIM:618128 a owl:Class ; @@ -359563,12 +375069,13 @@ OMIM:618128 a owl:Class ; PMID:30084953 ; RO:0002525 CHR:9606chr1p12 ; RO:0003303 OMIM:618369 ; - oboInOwl:hasDbXref UMLS:C1425237 ; oboInOwl:hasExactSynonym "GDAP2", "ganglioside-induced differentiation-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54834 ; - skos:exactMatch HGNC_symbol:GDAP2 ; + skos:exactMatch UMLS:C1425237, + HGNC:18010, + HGNC_symbol:GDAP2 ; biolink:category biolink:Gene . OMIM:618129 a owl:Class ; @@ -359576,11 +375083,11 @@ OMIM:618129 a owl:Class ; IAO:0000142 PMID:27259757, PMID:28881388, PMID:30055862 ; - oboInOwl:hasDbXref UMLS:C4748295 ; oboInOwl:hasExactSynonym "LGMDD4", "muscular dystrophy, limb-girdle, iia 1i", "muscular dystrophy, limb-girdle, autosomal dominant 4" ; rdfs:subClassOf OMIMPS:603511 ; + skos:exactMatch UMLS:C4748295 ; biolink:category biolink:Disease . OMIM:618130 a owl:Class ; @@ -359589,13 +375096,14 @@ OMIM:618130 a owl:Class ; PMID:17689978, PMID:26843217, PMID:29893745 ; - oboInOwl:hasDbXref UMLS:C2239780 ; oboInOwl:hasExactSynonym "NECAB2", "n-terminal ef-hand calcium-binding protein 2", "neural calcium-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54550 ; - skos:exactMatch HGNC_symbol:NECAB2 ; + skos:exactMatch UMLS:C2239780, + HGNC:23746, + HGNC_symbol:NECAB2 ; biolink:category biolink:Gene . OMIM:618132 a owl:Class ; @@ -359604,25 +375112,27 @@ OMIM:618132 a owl:Class ; PMID:19369701, PMID:26459514, PMID:28454648 ; - oboInOwl:hasDbXref UMLS:C2239926 ; oboInOwl:hasExactSynonym "SIGLEC14", "sialic acid-binding immunoglobulin-like lectin 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100049587 ; - skos:exactMatch HGNC_symbol:SIGLEC14 ; + skos:exactMatch UMLS:C2239926, + HGNC:32926, + HGNC_symbol:SIGLEC14 ; biolink:category biolink:Gene . OMIM:618133 a owl:Class ; rdfs:label "NXPE4" ; IAO:0000142 PMID:15375555 ; - oboInOwl:hasDbXref UMLS:C1825116 ; oboInOwl:hasExactSynonym "NXPE4", "chromosome 11 open reading frame 33", "flj20127", "neurexophilin and pc-esterase domain family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54827 ; - skos:exactMatch HGNC_symbol:NXPE4 ; + skos:exactMatch UMLS:C1825116, + HGNC:23117, + HGNC_symbol:NXPE4 ; biolink:category biolink:Gene . OMIM:618134 a owl:Class ; @@ -359630,13 +375140,14 @@ OMIM:618134 a owl:Class ; IAO:0000142 PMID:14550283, PMID:20192922, PMID:25535277 ; - oboInOwl:hasDbXref UMLS:C1540170 ; oboInOwl:hasExactSynonym "UTS2B", "urotensin 2b", "urotensin ii-related peptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257313 ; - skos:exactMatch HGNC_symbol:UTS2B ; + skos:exactMatch UMLS:C1540170, + HGNC:30894, + HGNC_symbol:UTS2B ; biolink:category biolink:Gene . OMIM:618136 a owl:Class ; @@ -359648,14 +375159,15 @@ OMIM:618136 a owl:Class ; PMID:24131926, PMID:25092294, PMID:29973720 ; - oboInOwl:hasDbXref UMLS:C1427281 ; oboInOwl:hasExactSynonym "MAD2L1BP", "caught by mad2", "mad2l1-binding protein", "p31(comet)" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9587 ; - skos:exactMatch HGNC_symbol:MAD2L1BP ; + skos:exactMatch UMLS:C1427281, + HGNC:21059, + HGNC_symbol:MAD2L1BP ; biolink:category biolink:Gene . OMIM:618137 a owl:Class ; @@ -359665,26 +375177,28 @@ OMIM:618137 a owl:Class ; PMID:26942680, PMID:28377371, PMID:29416714 ; - oboInOwl:hasDbXref UMLS:C4748326 ; oboInOwl:hasExactSynonym "mis18 kinetochore protein a: mis18a", "mis18, s. pombe, homolog of, a", "mis18-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54069 ; - skos:exactMatch HGNC_symbol:MIS18A ; + skos:exactMatch UMLS:C4748326, + HGNC:1286, + HGNC_symbol:MIS18A ; biolink:category biolink:Gene . OMIM:618139 a owl:Class ; rdfs:label "MIS18BP1" ; IAO:0000142 PMID:17199038, PMID:28377371 ; - oboInOwl:hasDbXref UMLS:C1426763 ; oboInOwl:hasExactSynonym "MIS18BP1", "chromosome 14 open reading frame 106", "mis18-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55320 ; - skos:exactMatch HGNC_symbol:MIS18BP1 ; + skos:exactMatch UMLS:C1426763, + HGNC:20190, + HGNC_symbol:MIS18BP1 ; biolink:category biolink:Gene . OMIM:618146 a owl:Class ; @@ -359693,40 +375207,42 @@ OMIM:618146 a owl:Class ; PMID:30122541 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:618152 ; - oboInOwl:hasDbXref UMLS:C1823830, - UMLS:C4748395 ; oboInOwl:hasExactSynonym "CFAP251", "cilia- and flagella-associated protein 251", "wd repeat-containing protein 66" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144406 ; - skos:exactMatch HGNC_symbol:CFAP251 ; + skos:exactMatch UMLS:C1823830, + UMLS:C4748395, + HGNC:28506, + HGNC_symbol:CFAP251 ; biolink:category biolink:Gene . OMIM:618149 a owl:Class ; rdfs:label "orofacial cleft 8" ; IAO:0000142 PMID:16740912, PMID:29500247 ; - oboInOwl:hasDbXref UMLS:C1851878, - ORPHA:199306 ; oboInOwl:hasExactSynonym "OFC8", "cleft 51p with or without cleft palate, nonsyndromic, 8", "orofacial cleft 8" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1851878, + ORPHA:199306 ; biolink:category biolink:Disease . OMIM:618151 a owl:Class ; rdfs:label "TSBP1" ; IAO:0000142 PMID:16948892, PMID:18232488 ; - oboInOwl:hasDbXref UMLS:C1422274 ; oboInOwl:hasExactSynonym "TSBP1", "chromosome 6 open reading frame 10", "testis sperm-binding protein", "testis-expressed basic protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10665 ; - skos:exactMatch HGNC_symbol:TSBP1 ; + skos:exactMatch UMLS:C1422274, + HGNC:13922, + HGNC_symbol:TSBP1 ; biolink:category biolink:Gene . OMIM:618159 a owl:Class ; @@ -359734,25 +375250,26 @@ OMIM:618159 a owl:Class ; IAO:0000142 PMID:25453831 ; RO:0002525 CHR:9606chr2p16.3 ; RO:0003303 OMIM:619383 ; - oboInOwl:hasDbXref UMLS:C3471429 ; oboInOwl:hasExactSynonym "PPP1R21", "coiled-coil domain-containing protein 128", "klraq motif-containing protein 1", "protein phosphatase 1, regulatory subunit 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129285 ; - skos:exactMatch HGNC_symbol:PPP1R21 ; + skos:exactMatch UMLS:C3471429, + HGNC:30595, + HGNC_symbol:PPP1R21 ; biolink:category biolink:Gene . OMIM:618161 a owl:Class ; rdfs:label "joubert syndrome 35" ; IAO:0000142 PMID:16565502, PMID:30269812 ; - oboInOwl:hasDbXref UMLS:C4748442, - ORPHA:475 ; oboInOwl:hasExactSynonym "JBTS35", "joubert syndrome 35" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4748442, + ORPHA:475 ; biolink:category biolink:Disease . OMIM:618163 a owl:Class ; @@ -359761,13 +375278,14 @@ OMIM:618163 a owl:Class ; PMID:8724849 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:618316 ; - oboInOwl:hasDbXref UMLS:C4085706 ; oboInOwl:hasExactSynonym "TMEM94", "kiaa0195", "transmembrane protein 94" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9772 ; - skos:exactMatch HGNC_symbol:TMEM94 ; + skos:exactMatch UMLS:C4085706, + HGNC:28983, + HGNC_symbol:TMEM94 ; biolink:category biolink:Gene . OMIM:618165 a owl:Class ; @@ -359775,29 +375293,29 @@ OMIM:618165 a owl:Class ; IAO:0000142 PMID:23770245, PMID:24013501, PMID:30146126 ; - oboInOwl:hasDbXref UMLS:C4748488 ; oboInOwl:hasExactSynonym "BMFS5", "bone marrow failure syndrome 5" ; rdfs:subClassOf OMIMPS:614675 ; + skos:exactMatch UMLS:C4748488 ; biolink:category biolink:Disease . OMIM:618166 a owl:Class ; rdfs:label "CNTD1" ; IAO:0000142 PMID:24891606 ; - oboInOwl:hasDbXref UMLS:C1824767 ; oboInOwl:hasExactSynonym "CNTD1", "crossover site-associated protein 1", "cyclin n-terminal domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124817 ; - skos:exactMatch HGNC_symbol:CNTD1 ; + skos:exactMatch UMLS:C1824767, + HGNC:26847, + HGNC_symbol:CNTD1 ; biolink:category biolink:Gene . OMIM:618169 a owl:Class ; rdfs:label "PANTR1" ; IAO:0000142 PMID:25445282, PMID:28338200 ; - oboInOwl:hasDbXref UMLS:C3814918 ; oboInOwl:hasExactSynonym "PANTR1", "lincrna 1158", "lincrna-pou3f3", @@ -359805,7 +375323,9 @@ OMIM:618169 a owl:Class ; "pou3f3-adjacent noncoding transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506421 ; - skos:exactMatch HGNC_symbol:PANTR1 ; + skos:exactMatch UMLS:C3814918, + HGNC:49513, + HGNC_symbol:PANTR1 ; biolink:category biolink:Gene . OMIM:618171 a owl:Class ; @@ -359814,26 +375334,28 @@ OMIM:618171 a owl:Class ; PMID:17641687, PMID:23749212, PMID:29736960 ; - oboInOwl:hasDbXref UMLS:C1423791, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "KIF16B", "kinesin family member 16b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55614 ; - skos:exactMatch HGNC_symbol:KIF16B ; + skos:exactMatch UMLS:C1423791, + UMLS:C2986382, + HGNC:15869, + HGNC_symbol:KIF16B ; biolink:category biolink:Gene . OMIM:618172 a owl:Class ; rdfs:label "LUARIS" ; IAO:0000142 PMID:27582466 ; - oboInOwl:hasDbXref UMLS:C4320370 ; oboInOwl:hasExactSynonym "LUARIS", "lncrna32", "long noncoding RNA 32", "long noncoding RNA upregulator of antiviral response interferon signaling" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506895 ; - skos:exactMatch HGNC_symbol:LUARIS ; + skos:exactMatch UMLS:C4320370, + HGNC:40992, + HGNC_symbol:LUARIS ; biolink:category biolink:Gene . OMIM:618181 a owl:Class ; @@ -359841,14 +375363,15 @@ OMIM:618181 a owl:Class ; IAO:0000142 PMID:29893856 ; RO:0002525 CHR:9606chr3q12.3 ; RO:0003303 OMIM:618383 ; - oboInOwl:hasDbXref UMLS:C1538147 ; oboInOwl:hasExactSynonym "ZBTB11", "ckii-alpha interactor 1, drosophila, homolog of", "ckii-alpha-i1, drosophila, homolog of", "zinc finger- and btb domain-containing protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27107 ; - skos:exactMatch HGNC_symbol:ZBTB11 ; + skos:exactMatch UMLS:C1538147, + HGNC:16740, + HGNC_symbol:ZBTB11 ; biolink:category biolink:Gene . OMIM:618184 a owl:Class ; @@ -359858,10 +375381,10 @@ OMIM:618184 a owl:Class ; PMID:15184631, PMID:17825553, PMID:8816708 ; - oboInOwl:hasDbXref UMLS:C4722277 ; oboInOwl:hasExactSynonym "CHN2", "neuropathy, congenital hypomyelinating, 2" ; rdfs:subClassOf OMIMPS:605253 ; + skos:exactMatch UMLS:C4722277 ; biolink:category biolink:Disease . OMIM:618186 a owl:Class ; @@ -359871,63 +375394,67 @@ OMIM:618186 a owl:Class ; PMID:27818385, PMID:28374019, PMID:29511323 ; - oboInOwl:hasDbXref UMLS:C4748608, - ORPHA:2680 ; oboInOwl:hasExactSynonym "CHN3", "neuropathy, congenital hypomyelinating, 3" ; rdfs:subClassOf OMIMPS:605253 ; + skos:exactMatch UMLS:C4748608, + ORPHA:2680 ; biolink:category biolink:Disease . OMIM:618190 a owl:Class ; rdfs:label "LUCAT1" ; - oboInOwl:hasDbXref UMLS:C3816760 ; oboInOwl:hasExactSynonym "LUCAT1", "lung cancer-associated transcript 1, noncoding", "smoke- and cancer-associated lncrna 1", "smoke- and cancer-associated long noncoding RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100505994 ; - skos:exactMatch HGNC_symbol:LUCAT1 ; + skos:exactMatch UMLS:C3816760, + HGNC:48498, + HGNC_symbol:LUCAT1 ; biolink:category biolink:Gene . OMIM:618191 a owl:Class ; rdfs:label "CEACAM21" ; IAO:0000142 PMID:21682944, PMID:30033361 ; - oboInOwl:hasDbXref UMLS:C1824697 ; oboInOwl:hasExactSynonym "CEACAM21", "carcinoembryonic antigen-related cell adhesion molecule 21", "cea cell adhesion molecule 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90273 ; - skos:exactMatch HGNC_symbol:CEACAM21 ; + skos:exactMatch UMLS:C1824697, + HGNC:28834, + HGNC_symbol:CEACAM21 ; biolink:category biolink:Gene . OMIM:618192 a owl:Class ; rdfs:label "PCAT19" ; IAO:0000142 PMID:30033361, PMID:30033362 ; - oboInOwl:hasDbXref UMLS:C3812533 ; oboInOwl:hasExactSynonym "PCAT19", "lincrna 1190", "long intergenic noncoding RNA 1190", "prostate cancer-associated transcript 19, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100505495 ; - skos:exactMatch HGNC_symbol:PCAT19 ; + skos:exactMatch UMLS:C3812533, + HGNC:49593, + HGNC_symbol:PCAT19 ; biolink:category biolink:Gene . OMIM:618194 a owl:Class ; rdfs:label "SSC5D" ; IAO:0000142 PMID:19535143 ; - oboInOwl:hasDbXref UMLS:C3146566 ; oboInOwl:hasExactSynonym "SSC5D", "scavenger receptor cysteine-rich family member with 5 domains", "soluble scavenger with 5 domains", "sscr family member with 5 domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284297 ; - skos:exactMatch HGNC_symbol:SSC5D ; + skos:exactMatch UMLS:C3146566, + HGNC:26641, + HGNC_symbol:SSC5D ; biolink:category biolink:Gene . OMIM:618196 a owl:Class ; @@ -359935,10 +375462,10 @@ OMIM:618196 a owl:Class ; IAO:0000142 PMID:28687708, PMID:28730721, PMID:29444212 ; - oboInOwl:hasDbXref UMLS:C4748670 ; oboInOwl:hasExactSynonym "CMAVM2", "capillary malformation-arteriovenous malformation 2" ; rdfs:subClassOf OMIMPS:608354 ; + skos:exactMatch UMLS:C4748670 ; biolink:category biolink:Disease . OMIM:618199 a owl:Class ; @@ -359948,28 +375475,30 @@ OMIM:618199 a owl:Class ; PMID:11718896, PMID:11815617, PMID:16055734 ; - oboInOwl:hasDbXref UMLS:C2240226 ; oboInOwl:hasExactSynonym "A1CF", "acf", "apobec1 complementation factor", "apobec1-stimulating protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29974 ; - skos:exactMatch HGNC_symbol:A1CF ; + skos:exactMatch UMLS:C2240226, + HGNC:24086, + HGNC_symbol:A1CF ; biolink:category biolink:Gene . OMIM:618200 a owl:Class ; rdfs:label "MDN1" ; IAO:0000142 PMID:12102729, PMID:30318141 ; - oboInOwl:hasDbXref UMLS:C1425432 ; oboInOwl:hasExactSynonym "MDN1", "midas-containing protein 1", "midasin 1", "midasin aaa atpase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23195 ; - skos:exactMatch HGNC_symbol:MDN1 ; + skos:exactMatch UMLS:C1425432, + HGNC:18302, + HGNC_symbol:MDN1 ; biolink:category biolink:Gene . OMIM:618202 a owl:Class ; @@ -359977,42 +375506,43 @@ OMIM:618202 a owl:Class ; IAO:0000142 PMID:30318146 ; RO:0002525 CHR:9606chr7q11.23 ; RO:0003303 OMIM:619382 ; - oboInOwl:hasDbXref UMLS:C2681419 ; oboInOwl:hasExactSynonym "DNAJC30", "dnaj/hsp40 homolog, subfamily c, member 30", "williams-beuren syndrome chromosome region 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84277 ; - skos:exactMatch HGNC_symbol:DNAJC30 ; + skos:exactMatch UMLS:C2681419, + HGNC:16410, + HGNC_symbol:DNAJC30 ; biolink:category biolink:Gene . OMIM:618203 a owl:Class ; rdfs:label "TMTC4" ; IAO:0000142 PMID:30188326 ; - oboInOwl:hasDbXref UMLS:C1823454 ; oboInOwl:hasExactSynonym "TMTC4", "transmembrane and tetratricopeptide repeat domains-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84899 ; - skos:exactMatch HGNC_symbol:TMTC4 ; + skos:exactMatch UMLS:C1823454, + HGNC:25904, + HGNC_symbol:TMTC4 ; biolink:category biolink:Gene . OMIM:618204 a owl:Class ; rdfs:label "immunodeficiency 15a" ; IAO:0000142 PMID:26757737, PMID:30337470 ; - oboInOwl:hasDbXref UMLS:C4748694, - ORPHA:397787 ; oboInOwl:hasExactSynonym "IMD15A", "immunodeficiency 15a" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4748694, + ORPHA:397787 ; biolink:category biolink:Disease . OMIM:618206 a owl:Class ; rdfs:label "ZC3H7B" ; IAO:0000142 PMID:15047801, PMID:18799579 ; - oboInOwl:hasDbXref UMLS:C1823919 ; oboInOwl:hasExactSynonym "ZC3H7B", "kiaa1031", "rotavirus 10 protein associated with nsp3 1", @@ -360020,40 +375550,43 @@ OMIM:618206 a owl:Class ; "zinc finger ccch domain-containing protein 7b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23264 ; - skos:exactMatch HGNC_symbol:ZC3H7B ; + skos:exactMatch UMLS:C1823919, + HGNC:30869, + HGNC_symbol:ZC3H7B ; biolink:category biolink:Gene . OMIM:618207 a owl:Class ; rdfs:label "SCFD1" ; IAO:0000142 PMID:19536132, PMID:9195952 ; - oboInOwl:hasDbXref UMLS:C1427098 ; oboInOwl:hasExactSynonym "SCFD1", "ra410", "sec1 family domain-containing protein 1", "sly1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23256 ; - skos:exactMatch HGNC_symbol:SCFD1 ; + skos:exactMatch UMLS:C1427098, + HGNC:20726, + HGNC_symbol:SCFD1 ; biolink:category biolink:Gene . OMIM:618208 a owl:Class ; rdfs:label "LINC01159" ; IAO:0000142 PMID:24381249 ; - oboInOwl:hasDbXref UMLS:C3814919 ; oboInOwl:hasExactSynonym "LINC01159", "linc-brn1b", "lincrna 1159", "long intergenic noncoding RNA 1159" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:102682016 ; - skos:exactMatch HGNC_symbol:LINC01159 ; + skos:exactMatch UMLS:C3814919, + HGNC:49514, + HGNC_symbol:LINC01159 ; biolink:category biolink:Gene . OMIM:618209 a owl:Class ; rdfs:label "HAGLR" ; IAO:0000142 PMID:24381249 ; - oboInOwl:hasDbXref UMLS:C3470487 ; oboInOwl:hasExactSynonym "HAGLR", "hoxd antisense growth-associated long noncoding RNA", "lincrna haglr", @@ -360061,7 +375594,9 @@ OMIM:618209 a owl:Class ; "mdgt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401022 ; - skos:exactMatch HGNC_symbol:HAGLR ; + skos:exactMatch UMLS:C3470487, + HGNC:43755, + HGNC_symbol:HAGLR ; biolink:category biolink:Gene . OMIM:618210 a owl:Class ; @@ -360069,14 +375604,15 @@ OMIM:618210 a owl:Class ; IAO:0000142 PMID:12805216, PMID:21266579, PMID:27022195 ; - oboInOwl:hasDbXref UMLS:C1826809 ; oboInOwl:hasExactSynonym "RFTN1", "kiaa0084", "lipid raft linking protein 1", "raftlin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23180 ; - skos:exactMatch HGNC_symbol:RFTN1 ; + skos:exactMatch UMLS:C1826809, + HGNC:30278, + HGNC_symbol:RFTN1 ; biolink:category biolink:Gene . OMIM:618211 a owl:Class ; @@ -360086,48 +375622,51 @@ OMIM:618211 a owl:Class ; PMID:23041349 ; RO:0002525 CHR:9606chr10p15.2 ; RO:0003303 OMIM:619405 ; - oboInOwl:hasDbXref UMLS:C1425030 ; oboInOwl:hasExactSynonym "PITRM1", "metalloendoprotease 1", "pitrilysin metallopeptidase 1", "presequence protease" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10531 ; - skos:exactMatch HGNC_symbol:PITRM1 ; + skos:exactMatch UMLS:C1425030, + HGNC:17663, + HGNC_symbol:PITRM1 ; biolink:category biolink:Gene . OMIM:618212 a owl:Class ; rdfs:label "LINC-PINT" ; IAO:0000142 PMID:24381249 ; - oboInOwl:hasDbXref UMLS:C3811619 ; oboInOwl:hasExactSynonym "LINC-PINT", "lincrna pint", "long intergenic noncoding rna, p53-induced transcript", "p53-induced transcript" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:378805 ; - skos:exactMatch HGNC_symbol:LINC-PINT ; + skos:exactMatch UMLS:C3811619, + HGNC:26885, + HGNC_symbol:LINC-PINT ; biolink:category biolink:Gene . OMIM:618213 a owl:Class ; rdfs:label "inflammatory bowel disease, immunodeficiency, and encephalopathy" ; IAO:0000142 PMID:29483653 ; - oboInOwl:hasDbXref UMLS:C4748708 ; oboInOwl:hasExactSynonym "IBDIMDE", "inflammatory bowel disease, immunodeficiency, and encephalopathy" ; + skos:exactMatch UMLS:C4748708 ; biolink:category biolink:Disease . OMIM:618214 a owl:Class ; rdfs:label "LINC01157" ; IAO:0000142 PMID:24381249 ; - oboInOwl:hasDbXref UMLS:C3814917 ; oboInOwl:hasExactSynonym "LINC01157", "linc-enc1", "lincrna 1157", "long intergenic noncoding RNA 1157" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105379037 ; - skos:exactMatch HGNC_symbol:LINC01157 ; + skos:exactMatch UMLS:C3814917, + HGNC:49512, + HGNC_symbol:LINC01157 ; biolink:category biolink:Gene . OMIM:618215 a owl:Class ; @@ -360135,18 +375674,18 @@ OMIM:618215 a owl:Class ; IAO:0000142 PMID:12805216, PMID:21266579, PMID:27022195 ; - oboInOwl:hasDbXref UMLS:C4723820 ; oboInOwl:hasExactSynonym "RFTN2", "lipid raft linking protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130132 ; - skos:exactMatch HGNC_symbol:RFTN2 ; + skos:exactMatch UMLS:C4723820, + HGNC:26402, + HGNC_symbol:RFTN2 ; biolink:category biolink:Gene . OMIM:618216 a owl:Class ; rdfs:label "MIRLET7BHG" ; IAO:0000142 PMID:24381249 ; - oboInOwl:hasDbXref UMLS:C2829897 ; oboInOwl:hasExactSynonym "MIRLET7BHG", "lincrna mirlet7bhg", "long intergenic noncoding RNA mirlet7bhg", @@ -360154,13 +375693,14 @@ OMIM:618216 a owl:Class ; "mirlet7b host gene, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400931 ; - skos:exactMatch HGNC_symbol:MIRLET7BHG ; + skos:exactMatch UMLS:C2829897, + HGNC:37189, + HGNC_symbol:MIRLET7BHG ; biolink:category biolink:Gene . OMIM:618217 a owl:Class ; rdfs:label "ELDR" ; IAO:0000142 PMID:24381249 ; - oboInOwl:hasDbXref UMLS:C3814916 ; oboInOwl:hasExactSynonym "ELDR", "egfr long noncoding downstream RNA", "fabl", @@ -360169,7 +375709,9 @@ OMIM:618217 a owl:Class ; "long intergenic noncoding RNA eldr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:102725541 ; - skos:exactMatch HGNC_symbol:ELDR ; + skos:exactMatch UMLS:C3814916, + HGNC:49511, + HGNC_symbol:ELDR ; biolink:category biolink:Gene . OMIM:618227 a owl:Class ; @@ -360177,21 +375719,22 @@ OMIM:618227 a owl:Class ; IAO:0000142 PMID:30388400 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:618254 ; - oboInOwl:hasDbXref UMLS:C1825901 ; oboInOwl:hasExactSynonym "LRRC56", "leucine-rich repeat-containing protein 56" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115399 ; - skos:exactMatch HGNC_symbol:LRRC56 ; + skos:exactMatch UMLS:C1825901, + HGNC:25430, + HGNC_symbol:LRRC56 ; biolink:category biolink:Gene . OMIM:618249 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 28" ; IAO:0000142 PMID:25901006 ; - oboInOwl:hasDbXref UMLS:C4748827 ; oboInOwl:hasExactSynonym "MC1DN28", "mitochondrial complex 1 deficiency, nuclear iia 28" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748827 ; biolink:category biolink:Disease . OMIM:618255 a owl:Class ; @@ -360203,14 +375746,15 @@ OMIM:618255 a owl:Class ; PMID:30656188 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:618317 ; - oboInOwl:hasDbXref UMLS:C1426528 ; oboInOwl:hasExactSynonym "MYORG", "kiaa1161", "myogenesis-regulating glycosidase", "nuclear envelope transmembrane protein 37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57462 ; - skos:exactMatch HGNC_symbol:MYORG ; + skos:exactMatch UMLS:C1426528, + HGNC:19918, + HGNC_symbol:MYORG ; biolink:category biolink:Gene . OMIM:618256 a owl:Class ; @@ -360218,27 +375762,26 @@ OMIM:618256 a owl:Class ; IAO:0000142 PMID:12192017, PMID:15143273, PMID:30478036 ; - oboInOwl:hasDbXref UMLS:C4748854 ; - oboInOwl:hasExactSynonym "biparental mitochondrial DNA transmission" . + oboInOwl:hasExactSynonym "biparental mitochondrial DNA transmission" ; + skos:exactMatch UMLS:C4748854 . OMIM:618258 a owl:Class ; rdfs:label "SEC11A" ; IAO:0000142 PMID:23995782 ; - oboInOwl:hasDbXref UMLS:C1822663 ; oboInOwl:hasExactSynonym "SEC11A", "sec11 homolog a, signal peptidase complex subunit", "sec11, yeast, homolog of, a", "signal peptidase complex, 18-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23478 ; - skos:exactMatch HGNC_symbol:SEC11A ; + skos:exactMatch UMLS:C1822663, + HGNC:17718, + HGNC_symbol:SEC11A ; biolink:category biolink:Gene . OMIM:618259 a owl:Class ; rdfs:label "LINC01565" ; IAO:0000142 PMID:9307271 ; - oboInOwl:hasDbXref UMLS:C1708150, - UMLS:C4749154 ; oboInOwl:hasExactSynonym "LINC01565", "gr6", "gr6/evi1 fusion gene", @@ -360246,7 +375789,10 @@ OMIM:618259 a owl:Class ; "long intergenic noncoding RNA 1565" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23434 ; - skos:exactMatch HGNC_symbol:LINC01565 ; + skos:exactMatch UMLS:C1708150, + UMLS:C4749154, + HGNC:17099, + HGNC_symbol:LINC01565 ; biolink:category biolink:Gene . OMIM:618260 a owl:Class ; @@ -360257,13 +375803,14 @@ OMIM:618260 a owl:Class ; PMID:32814900 ; RO:0002525 CHR:9606chr17q23.3 ; RO:0003303 OMIM:618268 ; - oboInOwl:hasDbXref UMLS:C1824571 ; oboInOwl:hasExactSynonym "CCDC47", "calumin", "coiled-coil domain-containing protein 47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57003 ; - skos:exactMatch HGNC_symbol:CCDC47 ; + skos:exactMatch UMLS:C1824571, + HGNC:24856, + HGNC_symbol:CCDC47 ; biolink:category biolink:Gene . OMIM:618262 a owl:Class ; @@ -360271,32 +375818,34 @@ OMIM:618262 a owl:Class ; IAO:0000142 PMID:25076032, PMID:8378084, PMID:8440710 ; - oboInOwl:hasDbXref UMLS:C1424589 ; oboInOwl:hasExactSynonym "CREB5", "camp response element-binding protein 5", "camp response element-binding protein a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9586 ; - skos:exactMatch HGNC_symbol:CREB5 ; + skos:exactMatch UMLS:C1424589, + HGNC:16844, + HGNC_symbol:CREB5 ; biolink:category biolink:Gene . OMIM:618263 a owl:Class ; rdfs:label "CALHM3" ; IAO:0000142 PMID:29681531 ; - oboInOwl:hasDbXref UMLS:C1539416 ; oboInOwl:hasExactSynonym "CALHM3", "calcium homeostasis modulator 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119395 ; - skos:exactMatch HGNC_symbol:CALHM3 ; + skos:exactMatch UMLS:C1539416, + HGNC:23458, + HGNC_symbol:CALHM3 ; biolink:category biolink:Gene . OMIM:618265 a owl:Class ; rdfs:label "arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" ; IAO:0000142 PMID:29432562 ; - oboInOwl:hasDbXref UMLS:C4748872 ; oboInOwl:hasExactSynonym "ACCIID", "arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" ; + skos:exactMatch UMLS:C4748872 ; biolink:category biolink:Disease . OMIM:618269 a owl:Class ; @@ -360305,45 +375854,48 @@ OMIM:618269 a owl:Class ; PMID:29907691 ; RO:0002525 CHR:9606chr20q11.22 ; RO:0003303 OMIM:618282 ; - oboInOwl:hasDbXref UMLS:C1423893 ; oboInOwl:hasExactSynonym "ZNF341", "zinc finger protein 341" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84905 ; - skos:exactMatch HGNC_symbol:ZNF341 ; + skos:exactMatch UMLS:C1423893, + HGNC:15992, + HGNC_symbol:ZNF341 ; biolink:category biolink:Gene . OMIM:618271 a owl:Class ; rdfs:label "SEC61A2" ; IAO:0000142 PMID:22375059 ; - oboInOwl:hasDbXref UMLS:C1425043 ; oboInOwl:hasExactSynonym "SEC61A2", "sec61 complex, alpha-2 subunit", "sec61 translocon, alpha-2 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55176 ; - skos:exactMatch HGNC_symbol:SEC61A2 ; + skos:exactMatch UMLS:C1425043, + HGNC:17702, + HGNC_symbol:SEC61A2 ; biolink:category biolink:Gene . OMIM:618272 a owl:Class ; rdfs:label "global developmental delay, lung cysts, overgrowth, and wilms tumor" ; IAO:0000142 PMID:24676357 ; - oboInOwl:hasDbXref UMLS:C4748924 ; oboInOwl:hasExactSynonym "GLOW", "global developmental delay, lung cysts, overgrowth, and wilms tumor", "glow syndrome" ; + skos:exactMatch UMLS:C4748924 ; biolink:category biolink:Disease . OMIM:618274 a owl:Class ; rdfs:label "PPWD1" ; IAO:0000142 PMID:18397323, PMID:20676357 ; - oboInOwl:hasDbXref UMLS:C1826669 ; oboInOwl:hasExactSynonym "PPWD1", "peptidylprolyl isomerase domain- and wd40 repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23398 ; - skos:exactMatch HGNC_symbol:PPWD1 ; + skos:exactMatch UMLS:C1826669, + HGNC:28954, + HGNC_symbol:PPWD1 ; biolink:category biolink:Gene . OMIM:618277 a owl:Class ; @@ -360354,12 +375906,13 @@ OMIM:618277 a owl:Class ; PMID:30239752 ; RO:0002525 CHR:9606chr10q25.3 ; RO:0003303 OMIM:618278 ; - oboInOwl:hasDbXref UMLS:C1538059 ; oboInOwl:hasExactSynonym "NHLRC2", "nhl repeat-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374354 ; - skos:exactMatch HGNC_symbol:NHLRC2 ; + skos:exactMatch UMLS:C1538059, + HGNC:24731, + HGNC_symbol:NHLRC2 ; biolink:category biolink:Gene . OMIM:618280 a owl:Class ; @@ -360367,9 +375920,9 @@ OMIM:618280 a owl:Class ; IAO:0000142 PMID:29446546, PMID:30070761, PMID:30532227 ; - oboInOwl:hasDbXref UMLS:C4748946 ; oboInOwl:hasExactSynonym "CUGS", "cardiac-urogenital syndrome" ; + skos:exactMatch UMLS:C4748946 ; biolink:category biolink:Disease . OMIM:618281 a owl:Class ; @@ -360378,25 +375931,27 @@ OMIM:618281 a owl:Class ; PMID:15580307, PMID:18434322, PMID:24232570 ; - oboInOwl:hasDbXref UMLS:C1823653 ; oboInOwl:hasExactSynonym "VWA2", "amaco", "colon cancer-secreted protein 2", "von willebrand factor a domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340706 ; - skos:exactMatch HGNC_symbol:VWA2 ; + skos:exactMatch UMLS:C1823653, + HGNC:24709, + HGNC_symbol:VWA2 ; biolink:category biolink:Gene . OMIM:618288 a owl:Class ; rdfs:label "HMCES" ; IAO:0000142 PMID:30554877 ; - oboInOwl:hasDbXref UMLS:C1824133 ; oboInOwl:hasExactSynonym "5-hydroxymethylcytosine-binding protein, embryonic stem cell-specific", "HMCES" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56941 ; - skos:exactMatch HGNC_symbol:HMCES ; + skos:exactMatch UMLS:C1824133, + HGNC:24446, + HGNC_symbol:HMCES ; biolink:category biolink:Gene . OMIM:618289 a owl:Class ; @@ -360404,74 +375959,80 @@ OMIM:618289 a owl:Class ; IAO:0000142 PMID:16332174, PMID:23108400, PMID:27767179 ; - oboInOwl:hasDbXref UMLS:C1419900 ; oboInOwl:hasExactSynonym "ENTR1", "endosome-associated trafficking regulator 1", "serologically defined colon cancer antigen 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10807 ; - skos:exactMatch HGNC_symbol:ENTR1 ; + skos:exactMatch UMLS:C1419900, + HGNC:10667, + HGNC_symbol:ENTR1 ; biolink:category biolink:Gene . OMIM:618290 a owl:Class ; rdfs:label "WDR90" ; IAO:0000142 PMID:11572484, PMID:28781053 ; - oboInOwl:hasDbXref UMLS:C1823850 ; oboInOwl:hasExactSynonym "WDR90", "kiaa1924", "wd repeat-containing protein 90" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:197335 ; - skos:exactMatch HGNC_symbol:WDR90 ; + skos:exactMatch UMLS:C1823850, + HGNC:26960, + HGNC_symbol:WDR90 ; biolink:category biolink:Gene . OMIM:618293 a owl:Class ; rdfs:label "IFITM10" ; IAO:0000142 PMID:22363774 ; - oboInOwl:hasDbXref UMLS:C3147645 ; oboInOwl:hasExactSynonym "IFITM10", "dispanin, subfamily a, member 3", "interferon-induced transmembrane protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402778 ; - skos:exactMatch HGNC_symbol:IFITM10 ; + skos:exactMatch UMLS:C3147645, + HGNC:40022, + HGNC_symbol:IFITM10 ; biolink:category biolink:Gene . OMIM:618294 a owl:Class ; rdfs:label "TMEM91" ; IAO:0000142 PMID:22363774 ; - oboInOwl:hasDbXref UMLS:C1823353 ; oboInOwl:hasExactSynonym "TMEM91", "dispanin, subfamily c, member 3", "transmembrane protein 91" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:641649 ; - skos:exactMatch HGNC_symbol:TMEM91 ; + skos:exactMatch UMLS:C1823353, + HGNC:32393, + HGNC_symbol:TMEM91 ; biolink:category biolink:Gene . OMIM:618296 a owl:Class ; rdfs:label "TMEM233" ; IAO:0000142 PMID:22363774 ; - oboInOwl:hasDbXref UMLS:C2828879 ; oboInOwl:hasExactSynonym "TMEM233", "dispanin, subfamily b, member 2", "transmembrane protein 233" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387890 ; - skos:exactMatch HGNC_symbol:TMEM233 ; + skos:exactMatch UMLS:C2828879, + HGNC:37219, + HGNC_symbol:TMEM233 ; biolink:category biolink:Gene . OMIM:618297 a owl:Class ; rdfs:label "PRRT1" ; IAO:0000142 PMID:22363774 ; - oboInOwl:hasDbXref UMLS:C1826723 ; oboInOwl:hasExactSynonym "PRRT1", "dispanin, subfamily d, member 1", "proline-rich transmembrane protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80863 ; - skos:exactMatch HGNC_symbol:PRRT1 ; + skos:exactMatch UMLS:C1826723, + HGNC:13943, + HGNC_symbol:PRRT1 ; biolink:category biolink:Gene . OMIM:618299 a owl:Class ; @@ -360483,7 +376044,6 @@ OMIM:618299 a owl:Class ; PMID:9927190 ; RO:0002525 CHR:9606chr8q22.3 ; RO:0003303 OMIM:164310 ; - oboInOwl:hasDbXref UMLS:C1420445 ; oboInOwl:hasExactSynonym "LRP12", "ldlr-related protein 12", "low density lipoprotein receptor-related protein 12", @@ -360491,7 +376051,9 @@ OMIM:618299 a owl:Class ; "st7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29967 ; - skos:exactMatch HGNC_symbol:LRP12 ; + skos:exactMatch UMLS:C1420445, + HGNC:31708, + HGNC_symbol:LRP12 ; biolink:category biolink:Gene . OMIM:618301 a owl:Class ; @@ -360500,12 +376062,13 @@ OMIM:618301 a owl:Class ; PMID:19727525, PMID:19843585, PMID:22513779 ; - oboInOwl:hasDbXref UMLS:C3147684 ; oboInOwl:hasExactSynonym "KAZN", "kazrin, periplakin-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23254 ; - skos:exactMatch HGNC_symbol:KAZN ; + skos:exactMatch UMLS:C3147684, + HGNC:29173, + HGNC_symbol:KAZN ; biolink:category biolink:Gene . OMIM:618303 a owl:Class ; @@ -360514,14 +376077,15 @@ OMIM:618303 a owl:Class ; PMID:24069528, PMID:25588833, PMID:9054438 ; - oboInOwl:hasDbXref UMLS:C1418917 ; oboInOwl:hasExactSynonym "CAVIN3", "caveolae-associated protein 3", "cavin 3", "srbc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:112464 ; - skos:exactMatch HGNC_symbol:CAVIN3 ; + skos:exactMatch UMLS:C1418917, + HGNC:9400, + HGNC_symbol:CAVIN3 ; biolink:category biolink:Gene . OMIM:618304 a owl:Class ; @@ -360530,25 +376094,27 @@ OMIM:618304 a owl:Class ; PMID:31292949 ; RO:0002525 CHR:9606chr17q25.1 ; RO:0003303 OMIM:618341 ; - oboInOwl:hasDbXref UMLS:C1826749, - UMLS:C5193038 ; oboInOwl:hasExactSynonym "QRICH2", "glutamine-rich protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84074 ; - skos:exactMatch HGNC_symbol:QRICH2 ; + skos:exactMatch UMLS:C1826749, + UMLS:C5193038, + HGNC:25326, + HGNC_symbol:QRICH2 ; biolink:category biolink:Gene . OMIM:618305 a owl:Class ; rdfs:label "ATP1A1AS1" ; - oboInOwl:hasDbXref UMLS:C4749041 ; oboInOwl:hasExactSynonym "ATP1A1AS1", "atp1a1 antisense RNA 1, noncoding", "lncrna atp1a1as1", "long noncoding RNA atp1a1as1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84852 ; - skos:exactMatch HGNC_symbol:ATP1A1-AS1 ; + skos:exactMatch UMLS:C4749041, + HGNC:28262, + HGNC_symbol:ATP1A1-AS1 ; biolink:category biolink:Gene . OMIM:618306 a owl:Class ; @@ -360556,12 +376122,13 @@ OMIM:618306 a owl:Class ; IAO:0000142 PMID:15629447, PMID:21460222, PMID:27458189 ; - oboInOwl:hasDbXref UMLS:C1538723 ; oboInOwl:hasExactSynonym "PRR7", "proline-rich protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80758 ; - skos:exactMatch HGNC_symbol:PRR7 ; + skos:exactMatch UMLS:C1538723, + HGNC:28130, + HGNC_symbol:PRR7 ; biolink:category biolink:Gene . OMIM:618308 a owl:Class ; @@ -360569,25 +376136,27 @@ OMIM:618308 a owl:Class ; IAO:0000142 PMID:17956976, PMID:27725644, PMID:28053123 ; - oboInOwl:hasDbXref UMLS:C3541852 ; oboInOwl:hasExactSynonym "NOP9", "nop9 nucleolar protein", "nop9, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161424 ; - skos:exactMatch HGNC_symbol:NOP9 ; + skos:exactMatch UMLS:C3541852, + HGNC:19826, + HGNC_symbol:NOP9 ; biolink:category biolink:Gene . OMIM:618311 a owl:Class ; rdfs:label "RRS1" ; IAO:0000142 PMID:10688653, PMID:19465021 ; - oboInOwl:hasDbXref UMLS:C1424730 ; oboInOwl:hasExactSynonym "RRS1", "ribosome biogenesis regulator 1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23212 ; - skos:exactMatch HGNC_symbol:RRS1 ; + skos:exactMatch UMLS:C1424730, + HGNC:17083, + HGNC_symbol:RRS1 ; biolink:category biolink:Gene . OMIM:618315 a owl:Class ; @@ -360597,18 +376166,18 @@ OMIM:618315 a owl:Class ; PMID:8722009 ; RO:0002525 CHR:9606chr9q33.3 ; RO:0003303 OMIM:618312 ; - oboInOwl:hasDbXref UMLS:C1419667 ; oboInOwl:hasExactSynonym "RPL35", "ribosomal protein l35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11224 ; - skos:exactMatch HGNC_symbol:RPL35 ; + skos:exactMatch UMLS:C1419667, + HGNC:10344, + HGNC_symbol:RPL35 ; biolink:category biolink:Gene . OMIM:618318 a owl:Class ; rdfs:label "CFAP119" ; IAO:0000142 PMID:30975085 ; - oboInOwl:hasDbXref UMLS:C2681298 ; oboInOwl:hasExactSynonym "CFAP119", "chromosome 16 open reading frame 93", "cilia- and flagella-associated protein 119", @@ -360616,20 +376185,24 @@ OMIM:618318 a owl:Class ; "spergen 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90835 ; + skos:exactMatch UMLS:C2681298, + HGNC:28078, + HGNC_symbol:CFAP119 ; biolink:category biolink:Gene . OMIM:618319 a owl:Class ; rdfs:label "PRDM10" ; IAO:0000142 PMID:10574462, PMID:12175877 ; - oboInOwl:hasDbXref UMLS:C1422332 ; oboInOwl:hasExactSynonym "PRDM10", "kiaa1231", "pr domain-containing protein 10", "tristanin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56980 ; - skos:exactMatch HGNC_symbol:PRDM10 ; + skos:exactMatch UMLS:C1422332, + HGNC:13995, + HGNC_symbol:PRDM10 ; biolink:category biolink:Gene . OMIM:618320 a owl:Class ; @@ -360637,25 +376210,27 @@ OMIM:618320 a owl:Class ; IAO:0000142 PMID:10681567, PMID:11922621, PMID:25755141 ; - oboInOwl:hasDbXref UMLS:C1421980 ; oboInOwl:hasExactSynonym "PLA2G2E", "secretory phospholipase a2, group 2e", "spla2 2e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30814 ; - skos:exactMatch HGNC_symbol:PLA2G2E ; + skos:exactMatch UMLS:C1421980, + HGNC:13414, + HGNC_symbol:PLA2G2E ; biolink:category biolink:Gene . OMIM:618322 a owl:Class ; rdfs:label "USP38" ; IAO:0000142 PMID:14715245, PMID:30224386 ; - oboInOwl:hasDbXref UMLS:C1426655 ; oboInOwl:hasExactSynonym "USP38", "ubiquitin-specific protease 38" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84640 ; - skos:exactMatch HGNC_symbol:USP38 ; + skos:exactMatch UMLS:C1426655, + HGNC:20067, + HGNC_symbol:USP38 ; biolink:category biolink:Gene . OMIM:618323 a owl:Class ; @@ -360664,47 +376239,49 @@ OMIM:618323 a owl:Class ; PMID:28168212, PMID:28253535, PMID:28600779 ; - oboInOwl:hasDbXref UMLS:C5193027 ; oboInOwl:hasExactSynonym "CMS25", "myasthenic syndrome, congenital, 25, presynaptic" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C5193027 ; biolink:category biolink:Disease . OMIM:618326 a owl:Class ; rdfs:label "ZCCHC3" ; IAO:0000142 PMID:30193849 ; - oboInOwl:hasDbXref UMLS:C1538159 ; oboInOwl:hasExactSynonym "ZCCHC3", "zinc finger cchc domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85364 ; - skos:exactMatch HGNC_symbol:ZCCHC3 ; + skos:exactMatch UMLS:C1538159, + HGNC:16230, + HGNC_symbol:ZCCHC3 ; biolink:category biolink:Gene . OMIM:618327 a owl:Class ; rdfs:label "CRACD" ; IAO:0000142 PMID:10574462, PMID:30361697 ; - oboInOwl:hasDbXref UMLS:C2681628 ; oboInOwl:hasExactSynonym "CRACD", "cancer-related regulator of actin dynamics", "capping protein inhibiting regulator of actin dynamics", "kiaa1211" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57482 ; - skos:exactMatch HGNC_symbol:CRACD ; + skos:exactMatch UMLS:C2681628, + HGNC:29219, + HGNC_symbol:CRACD ; biolink:category biolink:Gene . OMIM:618328 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 71" ; IAO:0000142 PMID:30575854 ; - oboInOwl:hasDbXref UMLS:C5193030, - ORPHA:557064 ; oboInOwl:hasExactSynonym "DEE71", "developmental and epileptic encephalopathy 71", "epileptic encephalopathy, early infantile, 71", "glutaminase deficiency with neonatal epileptic encephalopathy" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5193030, + ORPHA:557064 ; biolink:category biolink:Disease . OMIM:618332 a owl:Class ; @@ -360712,20 +376289,20 @@ OMIM:618332 a owl:Class ; IAO:0000142 PMID:27311832, PMID:29460469, PMID:30737887 ; - oboInOwl:hasDbXref UMLS:C5193034 ; oboInOwl:hasExactSynonym "MKHK1", "menke-hennekam syndrome 1" ; rdfs:subClassOf OMIMPS:618332 ; + skos:exactMatch UMLS:C5193034 ; biolink:category biolink:Disease . OMIM:618333 a owl:Class ; rdfs:label "menke-hennekam syndrome 2" ; IAO:0000142 PMID:27465822, PMID:29460469 ; - oboInOwl:hasDbXref UMLS:C5193035 ; oboInOwl:hasExactSynonym "MKHK2", "menke-hennekam syndrome 2" ; rdfs:subClassOf OMIMPS:618332 ; + skos:exactMatch UMLS:C5193035 ; biolink:category biolink:Disease . OMIM:618334 a owl:Class ; @@ -360737,28 +376314,30 @@ OMIM:618334 a owl:Class ; PMID:31862710 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:618935 ; - oboInOwl:hasDbXref UMLS:C1824454, - UMLS:C5394542 ; oboInOwl:hasExactSynonym "CYBC1", "chromosome 17 open reading frame 62", "cytochrome b(-254) chaperone 1", "essential for reactive oxygen species" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79415 ; - skos:exactMatch HGNC_symbol:CYBC1 ; + skos:exactMatch UMLS:C1824454, + UMLS:C5394542, + HGNC:28672, + HGNC_symbol:CYBC1 ; biolink:category biolink:Gene . OMIM:618335 a owl:Class ; rdfs:label "LINC00958" ; IAO:0000142 PMID:29355840 ; - oboInOwl:hasDbXref UMLS:C3812452 ; oboInOwl:hasExactSynonym "LINC00958", "bladder cancer-associated transcript 2", "lincrna 958", "long intergenic noncoding RNA 958" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506305 ; - skos:exactMatch HGNC_symbol:LINC00958 ; + skos:exactMatch UMLS:C3812452, + HGNC:48671, + HGNC_symbol:LINC00958 ; biolink:category biolink:Gene . OMIM:618336 a owl:Class ; @@ -360766,67 +376345,71 @@ OMIM:618336 a owl:Class ; IAO:0000142 PMID:14760276, PMID:16835919, PMID:30503519 ; - oboInOwl:hasDbXref UMLS:C5193036 ; oboInOwl:hasExactSynonym "IMAGEI", "imagei syndrome", "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" ; + skos:exactMatch UMLS:C5193036 ; biolink:category biolink:Disease . OMIM:618337 a owl:Class ; rdfs:label "FRMD8" ; IAO:0000142 PMID:29897333, PMID:29897336 ; - oboInOwl:hasDbXref UMLS:C2239463 ; oboInOwl:hasExactSynonym "FRMD8", "ferm domain-containing protein 8", "irhom tail-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83786 ; - skos:exactMatch HGNC_symbol:FRMD8 ; + skos:exactMatch UMLS:C2239463, + HGNC:25462, + HGNC_symbol:FRMD8 ; biolink:category biolink:Gene . OMIM:618338 a owl:Class ; rdfs:label "METTL7A" ; IAO:0000142 PMID:26185986 ; - oboInOwl:hasDbXref UMLS:C1825976 ; oboInOwl:hasExactSynonym "METTL7A", "aamb", "methyltransferase-like 7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25840 ; - skos:exactMatch HGNC_symbol:METTL7A ; + skos:exactMatch UMLS:C1825976, + HGNC:24550, + HGNC_symbol:METTL7A ; biolink:category biolink:Gene . OMIM:618339 a owl:Class ; rdfs:label "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" ; IAO:0000142 PMID:30239721 ; - oboInOwl:hasDbXref UMLS:C5193037 ; oboInOwl:hasExactSynonym "CASGID", "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" ; + skos:exactMatch UMLS:C5193037 ; biolink:category biolink:Disease . OMIM:618340 a owl:Class ; rdfs:label "SMR3A" ; IAO:0000142 PMID:9354371 ; - oboInOwl:hasDbXref UMLS:C1539793 ; oboInOwl:hasExactSynonym "SMR3A", "pbi", "submaxillary gland androgen-regulated protein 3a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26952 ; - skos:exactMatch HGNC_symbol:SMR3A ; + skos:exactMatch UMLS:C1539793, + HGNC:19216, + HGNC_symbol:SMR3A ; biolink:category biolink:Gene . OMIM:618344 a owl:Class ; rdfs:label "PRR15" ; IAO:0000142 PMID:21061267, PMID:28380025 ; - oboInOwl:hasDbXref UMLS:C1826719 ; oboInOwl:hasExactSynonym "PRR15", "proline-rich protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222171 ; - skos:exactMatch HGNC_symbol:PRR15 ; + skos:exactMatch UMLS:C1826719, + HGNC:22310, + HGNC_symbol:PRR15 ; biolink:category biolink:Gene . OMIM:618347 a owl:Class ; @@ -360834,10 +376417,10 @@ OMIM:618347 a owl:Class ; IAO:0000142 PMID:28617965, PMID:29597095, PMID:30079490 ; - oboInOwl:hasDbXref UMLS:C5193043 ; oboInOwl:hasExactSynonym "GAMOS6", "galloway-mowat syndrome 6" ; rdfs:subClassOf OMIMPS:251300 ; + skos:exactMatch UMLS:C5193043 ; biolink:category biolink:Disease . OMIM:618348 a owl:Class ; @@ -360846,20 +376429,20 @@ OMIM:618348 a owl:Class ; PMID:28117080, PMID:28280135, PMID:30179222 ; - oboInOwl:hasDbXref UMLS:C5193044 ; oboInOwl:hasExactSynonym "GAMOS7", "galloway-mowat syndrome 7" ; rdfs:subClassOf OMIMPS:251300 ; + skos:exactMatch UMLS:C5193044 ; biolink:category biolink:Disease . OMIM:618349 a owl:Class ; rdfs:label "galloway-mowat syndrome 8" ; IAO:0000142 PMID:11793129, PMID:30427554 ; - oboInOwl:hasDbXref UMLS:C5193045 ; oboInOwl:hasExactSynonym "GAMOS8", "galloway-mowat syndrome 8" ; rdfs:subClassOf OMIMPS:251300 ; + skos:exactMatch UMLS:C5193045 ; biolink:category biolink:Disease . OMIM:618350 a owl:Class ; @@ -360867,13 +376450,14 @@ OMIM:618350 a owl:Class ; IAO:0000142 PMID:30715179 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:618351 ; - oboInOwl:hasDbXref UMLS:C1824228 ; oboInOwl:hasExactSynonym "MAP11", "chromosome 7 open reading frame 43", "microtubule-associated protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55262 ; - skos:exactMatch HGNC_symbol:TRAPPC14 ; + skos:exactMatch UMLS:C1824228, + HGNC:25604, + HGNC_symbol:TRAPPC14 ; biolink:category biolink:Gene . OMIM:618352 a owl:Class ; @@ -360881,22 +376465,23 @@ OMIM:618352 a owl:Class ; IAO:0000142 PMID:19293013, PMID:24680004, PMID:30763140 ; - oboInOwl:hasDbXref UMLS:C1274708 ; oboInOwl:hasExactSynonym "CCCA", "central centrifugal cicatricial alopecia" ; + skos:exactMatch UMLS:C1274708 ; biolink:category biolink:Disease . OMIM:618355 a owl:Class ; rdfs:label "ALG10" ; IAO:0000142 PMID:24303013 ; - oboInOwl:hasDbXref UMLS:C4760639 ; oboInOwl:hasExactSynonym "ALG10", "alg10 alpha-1,2-glucosyltransferase", "alg10, s. cerevisiae, homolog of", "alg10, s. cerevisiae, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84920 ; - skos:exactMatch HGNC_symbol:ALG10 ; + skos:exactMatch UMLS:C4760639, + HGNC:23162, + HGNC_symbol:ALG10 ; biolink:category biolink:Gene . OMIM:618359 a owl:Class ; @@ -360904,15 +376489,16 @@ OMIM:618359 a owl:Class ; IAO:0000142 PMID:12682018, PMID:8353497, PMID:9380504 ; - oboInOwl:hasDbXref UMLS:C1421685, - UMLS:C5193052 ; oboInOwl:hasExactSynonym "ZNF197", "vhl-associated krab-a domain-containing protein", "zinc finger protein 197", "zinc finger protein 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10168 ; - skos:exactMatch HGNC_symbol:ZNF197 ; + skos:exactMatch UMLS:C1421685, + UMLS:C5193052, + HGNC:12988, + HGNC_symbol:ZNF197 ; biolink:category biolink:Gene . OMIM:618361 a owl:Class ; @@ -360920,7 +376506,6 @@ OMIM:618361 a owl:Class ; IAO:0000142 PMID:18245086, PMID:20509867, PMID:27255161 ; - oboInOwl:hasDbXref UMLS:C1539315 ; oboInOwl:hasExactSynonym "DUSP23", "dual-specificity phosphatase 23", "dusp25", @@ -360928,16 +376513,18 @@ OMIM:618361 a owl:Class ; "vh1-like phosphatase z" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54935 ; - skos:exactMatch HGNC_symbol:DUSP23 ; + skos:exactMatch UMLS:C1539315, + HGNC:21480, + HGNC_symbol:DUSP23 ; biolink:category biolink:Gene . OMIM:618364 a owl:Class ; rdfs:label "myoclonus, familial, 2" ; IAO:0000142 PMID:29726066 ; - oboInOwl:hasDbXref UMLS:C5193056 ; oboInOwl:hasExactSynonym "MYOCL2", "myoclonus, familial, 2" ; rdfs:subClassOf OMIMPS:614937 ; + skos:exactMatch UMLS:C5193056 ; biolink:category biolink:Disease . OMIM:618365 a owl:Class ; @@ -360946,13 +376533,14 @@ OMIM:618365 a owl:Class ; PMID:17628018, PMID:19740739, PMID:25111779 ; - oboInOwl:hasDbXref UMLS:C2240223 ; oboInOwl:hasExactSynonym "ZSCAN10", "zinc finger protein 206", "zinc finger- and scan domain-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84891 ; - skos:exactMatch HGNC_symbol:ZSCAN10 ; + skos:exactMatch UMLS:C2240223, + HGNC:12997, + HGNC_symbol:ZSCAN10 ; biolink:category biolink:Gene . OMIM:618366 a owl:Class ; @@ -360962,13 +376550,14 @@ OMIM:618366 a owl:Class ; PMID:29476049, PMID:8864656, PMID:8969229 ; - oboInOwl:hasDbXref UMLS:C1823636 ; oboInOwl:hasExactSynonym "VPS8", "vacuolar protein sorting 8, s. cerevisiae, homolog of", "vps8 corvet complex subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23355 ; - skos:exactMatch HGNC_symbol:VPS8 ; + skos:exactMatch UMLS:C1823636, + HGNC:29122, + HGNC_symbol:VPS8 ; biolink:category biolink:Gene . OMIM:618368 a owl:Class ; @@ -360979,7 +376568,6 @@ OMIM:618368 a owl:Class ; PMID:23298255, PMID:24548998, PMID:28701747 ; - oboInOwl:hasDbXref UMLS:C1539317 ; oboInOwl:hasExactSynonym "DUSP26", "dual-specificity phosphatase 26", "low molecular mass dual-specificity phosphatase 4", @@ -360987,35 +376575,37 @@ OMIM:618368 a owl:Class ; "neuroendocrine-associated phosphatase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:78986 ; - skos:exactMatch HGNC_symbol:DUSP26 ; + skos:exactMatch UMLS:C1539317, + HGNC:28161, + HGNC_symbol:DUSP26 ; biolink:category biolink:Gene . OMIM:618370 a owl:Class ; rdfs:label "NEXNAS1" ; IAO:0000142 PMID:30589415 ; - oboInOwl:hasDbXref UMLS:C5193059 ; oboInOwl:hasExactSynonym "NEXNAS1", "lncrna nexnas1", "long noncoding RNA nexnas1", "nexn antisense RNA 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374987 ; - skos:exactMatch HGNC_symbol:NEXN-AS1 ; + skos:exactMatch UMLS:C5193059, + HGNC:31983, + HGNC_symbol:NEXN-AS1 ; biolink:category biolink:Gene . OMIM:618373 a owl:Class ; rdfs:label "cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma" ; IAO:0000142 PMID:25315659 ; - oboInOwl:hasDbXref UMLS:C5193062 ; oboInOwl:hasExactSynonym "CAPOK", "cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma", "capok syndrome" ; + skos:exactMatch UMLS:C5193062 ; biolink:category biolink:Disease . OMIM:618375 a owl:Class ; rdfs:label "FAAHP1" ; IAO:0000142 PMID:30929760 ; - oboInOwl:hasDbXref UMLS:C3889525 ; oboInOwl:hasExactSynonym "FAAHP1", "faah pseudogene 1", "faah-out", @@ -361024,56 +376614,61 @@ OMIM:618375 a owl:Class ; "long intergenic noncoding RNA 505" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:729041 ; - skos:exactMatch HGNC_symbol:FAAHP1 ; + skos:exactMatch UMLS:C3889525, + HGNC:50679, + HGNC_symbol:FAAHP1 ; biolink:category biolink:Gene . OMIM:618376 a owl:Class ; rdfs:label "PRSS23" ; IAO:0000142 PMID:16870946, PMID:29016706 ; - oboInOwl:hasDbXref UMLS:C1538727 ; oboInOwl:hasExactSynonym "PRSS23", "protease, serine, 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11098 ; - skos:exactMatch HGNC_symbol:PRSS23 ; + skos:exactMatch UMLS:C1538727, + HGNC:14370, + HGNC_symbol:PRSS23 ; biolink:category biolink:Gene . OMIM:618377 a owl:Class ; rdfs:label "pain sensitivity quantitative trait locus 1" ; IAO:0000142 PMID:30929760 ; RO:0002525 CHR:9606chr1p33 ; - oboInOwl:hasDbXref UMLS:C4760611 ; oboInOwl:hasExactSynonym "PAINQTL1", "insensitivity to pain", "pain sensitivity quantitative trait locus 1" ; + skos:exactMatch UMLS:C4760611 ; biolink:category biolink:Disease . OMIM:618380 a owl:Class ; rdfs:label "FAM83D" ; IAO:0000142 PMID:18485706, PMID:25646692 ; - oboInOwl:hasDbXref UMLS:C1825164 ; oboInOwl:hasExactSynonym "FAM83D", "chica", "family with sequence similarity 83, member d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81610 ; - skos:exactMatch HGNC_symbol:FAM83D ; + skos:exactMatch UMLS:C1825164, + HGNC:16122, + HGNC_symbol:FAM83D ; biolink:category biolink:Gene . OMIM:618382 a owl:Class ; rdfs:label "CIAO2A" ; IAO:0000142 PMID:22683786, PMID:23891004 ; - oboInOwl:hasDbXref UMLS:C1825215 ; oboInOwl:hasExactSynonym "CIAO2A", "cia2a", "cytosolic iron-sulfur assembly component 2a", "family with sequence similarity 96, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84191 ; - skos:exactMatch HGNC_symbol:CIAO2A ; + skos:exactMatch UMLS:C1825215, + HGNC:26235, + HGNC_symbol:CIAO2A ; biolink:category biolink:Gene . OMIM:618385 a owl:Class ; @@ -361081,13 +376676,14 @@ OMIM:618385 a owl:Class ; IAO:0000142 PMID:23022774, PMID:7962207, PMID:8761950 ; - oboInOwl:hasDbXref UMLS:C1426629 ; oboInOwl:hasExactSynonym "CAP2", "cyclase-associated actin cytoskeleton regulatory protein 2", "cyclase-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10486 ; - skos:exactMatch HGNC_symbol:CAP2 ; + skos:exactMatch UMLS:C1426629, + HGNC:20039, + HGNC_symbol:CAP2 ; biolink:category biolink:Gene . OMIM:618388 a owl:Class ; @@ -361095,69 +376691,72 @@ OMIM:618388 a owl:Class ; IAO:0000142 PMID:18179903, PMID:18252226, PMID:19261599 ; - oboInOwl:hasDbXref UMLS:C4760576, - ORPHA:994 ; oboInOwl:hasExactSynonym "FADS2", "fetal akinesia deformation sequence 2" ; rdfs:subClassOf OMIMPS:208150 ; + skos:exactMatch UMLS:C4760576, + ORPHA:994 ; biolink:category biolink:Disease . OMIM:618389 a owl:Class ; rdfs:label "fetal akinesia deformation sequence 3" ; IAO:0000142 PMID:19261599, PMID:31880392 ; - oboInOwl:hasDbXref UMLS:C4760599, - ORPHA:994 ; oboInOwl:hasExactSynonym "FADS3", "fetal akinesia deformation sequence 3" ; rdfs:subClassOf OMIMPS:208150 ; + skos:exactMatch UMLS:C4760599, + ORPHA:994 ; biolink:category biolink:Disease . OMIM:618390 a owl:Class ; rdfs:label "BRINP3" ; IAO:0000142 PMID:17138656, PMID:28351617 ; - oboInOwl:hasDbXref UMLS:C4553362 ; oboInOwl:hasExactSynonym "BRINP3", "bone morphogenetic protein/retinoic acid-inducible neural-specific protein 3", "family with sequence similarity 5, member c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339479 ; - skos:exactMatch HGNC_symbol:BRINP3 ; + skos:exactMatch UMLS:C4553362, + HGNC:22393, + HGNC_symbol:BRINP3 ; biolink:category biolink:Gene . OMIM:618391 a owl:Class ; rdfs:label "DPH6" ; IAO:0000142 PMID:23468660 ; - oboInOwl:hasDbXref UMLS:C1825848 ; oboInOwl:hasExactSynonym "DPH6", "diphthamide biosynthesis protein 6", "dph6, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89978 ; - skos:exactMatch HGNC_symbol:DPH6 ; + skos:exactMatch UMLS:C1825848, + HGNC:30543, + HGNC_symbol:DPH6 ; biolink:category biolink:Gene . OMIM:618396 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 74" ; IAO:0000142 PMID:27864268 ; - oboInOwl:hasDbXref UMLS:C5193074, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE74", "developmental and epileptic encephalopathy 74", "epileptic encephalopathy, early infantile, 74" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5193074, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:618399 a owl:Class ; rdfs:label "GLT8D1" ; IAO:0000142 PMID:30811981 ; - oboInOwl:hasDbXref UMLS:C1539576 ; oboInOwl:hasExactSynonym "GLT8D1", "glycosyltransferase 8 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55830 ; - skos:exactMatch HGNC_symbol:GLT8D1 ; + skos:exactMatch UMLS:C1539576, + HGNC:24870, + HGNC_symbol:GLT8D1 ; biolink:category biolink:Gene . OMIM:618400 a owl:Class ; @@ -361165,53 +376764,55 @@ OMIM:618400 a owl:Class ; IAO:0000142 PMID:22508010, PMID:26437932, PMID:30298599 ; - oboInOwl:hasDbXref UMLS:C5193076 ; oboInOwl:hasExactSynonym "CMT2EE", "charcot-marie-tooth disease, axonal, iia 2ee", "charcot-marie-tooth neuropathy, iia 2ee" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C5193076 ; biolink:category biolink:Disease . OMIM:618401 a owl:Class ; rdfs:label "FAM170A" ; IAO:0000142 PMID:20162441 ; - oboInOwl:hasDbXref UMLS:C2681500 ; oboInOwl:hasExactSynonym "FAM170A", "family with sequence similarity 170, member a", "zinc finger domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340069 ; - skos:exactMatch HGNC_symbol:FAM170A ; + skos:exactMatch UMLS:C2681500, + HGNC:27963, + HGNC_symbol:FAM170A ; biolink:category biolink:Gene . OMIM:618403 a owl:Class ; rdfs:label "FAM124B" ; IAO:0000142 PMID:23285124 ; - oboInOwl:hasDbXref UMLS:C1825265 ; oboInOwl:hasExactSynonym "FAM124B", "family with sequence similarity 124, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79843 ; - skos:exactMatch HGNC_symbol:FAM124B ; + skos:exactMatch UMLS:C1825265, + HGNC:26224, + HGNC_symbol:FAM124B ; biolink:category biolink:Gene . OMIM:618405 a owl:Class ; rdfs:label "ZNF717" ; IAO:0000142 PMID:30654721 ; - oboInOwl:hasDbXref UMLS:C1824019 ; oboInOwl:hasExactSynonym "ZNF717", "osteoblast inducer 1", "zinc finger protein 717" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100131827 ; - skos:exactMatch HGNC_symbol:ZNF717 ; + skos:exactMatch UMLS:C1824019, + HGNC:29448, + HGNC_symbol:ZNF717 ; biolink:category biolink:Gene . OMIM:618407 a owl:Class ; rdfs:label "MINDY1" ; IAO:0000142 PMID:27292798, PMID:28082312 ; - oboInOwl:hasDbXref UMLS:C1539474 ; oboInOwl:hasExactSynonym "MINDY1", "family with sequence similarity 63, member a", "mindy lysine-48 deubiquitinase 1", @@ -361219,14 +376820,15 @@ OMIM:618407 a owl:Class ; "miu-containing dub family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55793 ; - skos:exactMatch HGNC_symbol:MINDY1 ; + skos:exactMatch UMLS:C1539474, + HGNC:25648, + HGNC_symbol:MINDY1 ; biolink:category biolink:Gene . OMIM:618408 a owl:Class ; rdfs:label "MINDY2" ; IAO:0000142 PMID:27292798, PMID:28082312 ; - oboInOwl:hasDbXref UMLS:C1539475 ; oboInOwl:hasExactSynonym "MINDY2", "family with sequence similarity 63, member B", "mindy lysine-48 deubiquitinase 2", @@ -361234,31 +376836,35 @@ OMIM:618408 a owl:Class ; "miu-containing dub family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54629 ; - skos:exactMatch HGNC_symbol:MINDY2 ; + skos:exactMatch UMLS:C1539475, + HGNC:26954, + HGNC_symbol:MINDY2 ; biolink:category biolink:Gene . OMIM:618409 a owl:Class ; rdfs:label "FAM8A1" ; IAO:0000142 PMID:11707071 ; - oboInOwl:hasDbXref UMLS:C1424224 ; oboInOwl:hasExactSynonym "FAM8A1", "family with sequence similarity 8, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51439 ; - skos:exactMatch HGNC_symbol:FAM8A1 ; + skos:exactMatch UMLS:C1424224, + HGNC:16372, + HGNC_symbol:FAM8A1 ; biolink:category biolink:Gene . OMIM:618411 a owl:Class ; rdfs:label "FTSJ3" ; IAO:0000142 PMID:22195017, PMID:30626973 ; - oboInOwl:hasDbXref UMLS:C1424772 ; oboInOwl:hasExactSynonym "FTSJ3", "ftsj RNA 2-prime-o-methyltransferase 3", "ftsj, e. coli, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117246 ; - skos:exactMatch HGNC_symbol:FTSJ3 ; + skos:exactMatch UMLS:C1424772, + HGNC:17136, + HGNC_symbol:FTSJ3 ; biolink:category biolink:Gene . OMIM:618413 a owl:Class ; @@ -361267,14 +376873,15 @@ OMIM:618413 a owl:Class ; PMID:30905400 ; RO:0002525 CHR:9606chr10q22.2 ; RO:0003303 OMIM:618763 ; - oboInOwl:hasDbXref UMLS:C2239438, - UMLS:C5231493 ; oboInOwl:hasExactSynonym "FAM149B1", "family with sequence similarity 149, member b1", "kiaa0974" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:317662 ; - skos:exactMatch HGNC_symbol:FAM149B1 ; + skos:exactMatch UMLS:C2239438, + UMLS:C5231493, + HGNC:29162, + HGNC_symbol:FAM149B1 ; biolink:category biolink:Gene . OMIM:618417 a owl:Class ; @@ -361282,21 +376889,22 @@ OMIM:618417 a owl:Class ; IAO:0000142 PMID:16783010, PMID:20551173, PMID:32461690 ; - oboInOwl:hasDbXref UMLS:C3544029 ; oboInOwl:hasExactSynonym "MEI4", "mei4, s. cerevisiae, homolog of", "meiotic double-stranded break formation protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101928601 ; - skos:exactMatch HGNC_symbol:MEI4 ; + skos:exactMatch UMLS:C3544029, + HGNC:43638, + HGNC_symbol:MEI4 ; biolink:category biolink:Gene . OMIM:618419 a owl:Class ; rdfs:label "gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy" ; IAO:0000142 PMID:30893644 ; - oboInOwl:hasDbXref UMLS:C5193085 ; oboInOwl:hasExactSynonym "GDRM", "gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy" ; + skos:exactMatch UMLS:C5193085 ; biolink:category biolink:Disease . OMIM:618421 a owl:Class ; @@ -361309,13 +376917,14 @@ OMIM:618421 a owl:Class ; PMID:31704776 ; RO:0002525 CHR:9606chr15q24.1 ; RO:0003303 OMIM:619176 ; - oboInOwl:hasDbXref UMLS:C2681290 ; oboInOwl:hasExactSynonym "REC114", "rec114 meiotic recombination protein", "rec114, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283677 ; - skos:exactMatch HGNC_symbol:REC114 ; + skos:exactMatch UMLS:C2681290, + HGNC:25065, + HGNC_symbol:REC114 ; biolink:category biolink:Gene . OMIM:618423 a owl:Class ; @@ -361323,12 +376932,13 @@ OMIM:618423 a owl:Class ; IAO:0000142 PMID:31000436, PMID:31003867, PMID:32461690 ; - oboInOwl:hasDbXref UMLS:C1538289 ; oboInOwl:hasExactSynonym "ANKRD31", "ankyrin repeat domain-containing protein 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256006 ; - skos:exactMatch HGNC_symbol:ANKRD31 ; + skos:exactMatch UMLS:C1538289, + HGNC:26853, + HGNC_symbol:ANKRD31 ; biolink:category biolink:Gene . OMIM:618424 a owl:Class ; @@ -361336,25 +376946,27 @@ OMIM:618424 a owl:Class ; IAO:0000142 PMID:30686508 ; RO:0002525 CHR:9606chr6q21 ; RO:0003303 OMIM:618433 ; - oboInOwl:hasDbXref UMLS:C1427872 ; oboInOwl:hasExactSynonym "ARMC2", "armadillo repeat-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84071 ; - skos:exactMatch HGNC_symbol:ARMC2 ; + skos:exactMatch UMLS:C1427872, + HGNC:23045, + HGNC_symbol:ARMC2 ; biolink:category biolink:Gene . OMIM:618427 a owl:Class ; rdfs:label "PACC1" ; IAO:0000142 PMID:31023925 ; - oboInOwl:hasDbXref UMLS:C1823219 ; oboInOwl:hasExactSynonym "PACC1", "pac", "proton-activated chloride channel 1", "transmembrane protein 206" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55248 ; - skos:exactMatch HGNC_symbol:PACC1 ; + skos:exactMatch UMLS:C1823219, + HGNC:25593, + HGNC_symbol:PACC1 ; biolink:category biolink:Gene . OMIM:618428 a owl:Class ; @@ -361363,11 +376975,11 @@ OMIM:618428 a owl:Class ; OMIM:618434 a owl:Class ; rdfs:label "deafness, autosomal recessive 94" ; IAO:0000142 PMID:25807530 ; - oboInOwl:hasDbXref UMLS:C5193096, - ORPHA:90636 ; oboInOwl:hasExactSynonym "DFNB94", "deafness, autosomal recessive 94" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C5193096, + ORPHA:90636 ; biolink:category biolink:Disease . OMIM:618436 a owl:Class ; @@ -361377,10 +376989,10 @@ OMIM:618436 a owl:Class ; PMID:21531865, PMID:22519952, PMID:29625835 ; - oboInOwl:hasDbXref UMLS:C5193098 ; oboInOwl:hasExactSynonym "DA2B3", "arthrogryposis, distal, iia 2b3" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C5193098 ; biolink:category biolink:Disease . OMIM:618439 a owl:Class ; @@ -361390,72 +377002,78 @@ OMIM:618439 a owl:Class ; PMID:30573563 ; RO:0002525 CHR:9606chr6q16.2 ; RO:0003303 OMIM:618513 ; - oboInOwl:hasDbXref UMLS:C1426667 ; oboInOwl:hasExactSynonym "USP45", "ubiquitin-specific protease 45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85015 ; - skos:exactMatch HGNC_symbol:USP45 ; + skos:exactMatch UMLS:C1426667, + HGNC:20080, + HGNC_symbol:USP45 ; biolink:category biolink:Gene . OMIM:618441 a owl:Class ; rdfs:label "ADGRG3" ; IAO:0000142 PMID:24178298 ; - oboInOwl:hasDbXref UMLS:C1422167 ; oboInOwl:hasExactSynonym "ADGRG3", "adhesion g protein-coupled receptor g3", "g protein-coupled receptor 97" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222487 ; - skos:exactMatch HGNC_symbol:ADGRG3 ; + skos:exactMatch UMLS:C1422167, + HGNC:13728, + HGNC_symbol:ADGRG3 ; biolink:category biolink:Gene . OMIM:618442 a owl:Class ; rdfs:label "KCTD8" ; IAO:0000142 PMID:21452234 ; - oboInOwl:hasDbXref UMLS:C1427767 ; oboInOwl:hasExactSynonym "KCTD8", "potassium channel tetramerization domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:386617 ; - skos:exactMatch HGNC_symbol:KCTD8 ; + skos:exactMatch UMLS:C1427767, + HGNC:22394, + HGNC_symbol:KCTD8 ; biolink:category biolink:Gene . OMIM:618444 a owl:Class ; rdfs:label "PLGRKT" ; IAO:0000142 PMID:21795689, PMID:21940822 ; - oboInOwl:hasDbXref UMLS:C1428175 ; oboInOwl:hasExactSynonym "PLGRKT", "plasminogen receptor kt", "plasminogen receptor with c-terminal lysine" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55848 ; - skos:exactMatch HGNC_symbol:PLGRKT ; + skos:exactMatch UMLS:C1428175, + HGNC:23633, + HGNC_symbol:PLGRKT ; biolink:category biolink:Gene . OMIM:618445 a owl:Class ; rdfs:label "GHRLOS" ; IAO:0000142 PMID:17727735, PMID:18954468 ; - oboInOwl:hasDbXref UMLS:C2239490 ; oboInOwl:hasExactSynonym "GHRLOS", "ghrelin opposite strand, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126793 ; - skos:exactMatch HGNC_symbol:GHRLOS ; + skos:exactMatch UMLS:C2239490, + HGNC:33885, + HGNC_symbol:GHRLOS ; biolink:category biolink:Gene . OMIM:618446 a owl:Class ; rdfs:label "GPC2" ; IAO:0000142 PMID:8294498 ; - oboInOwl:hasDbXref UMLS:C1415194 ; oboInOwl:hasExactSynonym "GPC2", "cerebroglycan", "glypican 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221914 ; - skos:exactMatch HGNC_symbol:GPC2 ; + skos:exactMatch UMLS:C1415194, + HGNC:4450, + HGNC_symbol:GPC2 ; biolink:category biolink:Gene . OMIM:618447 a owl:Class ; @@ -361465,10 +377083,10 @@ OMIM:618447 a owl:Class ; PMID:24728418, PMID:25633834, PMID:30345660 ; - oboInOwl:hasDbXref UMLS:C1832916 ; oboInOwl:hasExactSynonym "LQT8", "long qt syndrome 8" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C1832916 ; biolink:category biolink:Disease . OMIM:618448 a owl:Class ; @@ -361476,13 +377094,14 @@ OMIM:618448 a owl:Class ; IAO:0000142 PMID:15845401, PMID:26349500, PMID:31416932 ; - oboInOwl:hasDbXref UMLS:C1539604 ; oboInOwl:hasExactSynonym "GPR139", "g protein-coupled receptor 139", "gprg1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124274 ; - skos:exactMatch HGNC_symbol:GPR139 ; + skos:exactMatch UMLS:C1539604, + HGNC:19995, + HGNC_symbol:GPR139 ; biolink:category biolink:Gene . OMIM:618450 a owl:Class ; @@ -361490,12 +377109,13 @@ OMIM:618450 a owl:Class ; IAO:0000142 PMID:15120425, PMID:15504364, PMID:26124677 ; - oboInOwl:hasDbXref UMLS:C1426192 ; oboInOwl:hasExactSynonym "RTKN2", "rhotekin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219790 ; - skos:exactMatch HGNC_symbol:RTKN2 ; + skos:exactMatch UMLS:C1426192, + HGNC:19364, + HGNC_symbol:RTKN2 ; biolink:category biolink:Gene . OMIM:618452 a owl:Class ; @@ -361503,13 +377123,14 @@ OMIM:618452 a owl:Class ; IAO:0000142 PMID:10200314, PMID:22281740, PMID:29093443 ; - oboInOwl:hasDbXref UMLS:C1426103 ; oboInOwl:hasExactSynonym "PLEKHB2", "evectin 2", "pleckstrin homology domain-containing protein, family b, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55041 ; - skos:exactMatch HGNC_symbol:PLEKHB2 ; + skos:exactMatch UMLS:C1426103, + HGNC:19236, + HGNC_symbol:PLEKHB2 ; biolink:category biolink:Gene . OMIM:618455 a owl:Class ; @@ -361518,13 +377139,14 @@ OMIM:618455 a owl:Class ; PMID:31125343 ; RO:0002525 CHR:9606chr11q21 ; RO:0003303 OMIM:261990 ; - oboInOwl:hasDbXref UMLS:C1539663 ; oboInOwl:hasExactSynonym "HEPHL1", "hephaestin-like protein 1", "zyklopen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:341208 ; - skos:exactMatch HGNC_symbol:HEPHL1 ; + skos:exactMatch UMLS:C1539663, + HGNC:30477, + HGNC_symbol:HEPHL1 ; biolink:category biolink:Gene . OMIM:618461 a owl:Class ; @@ -361533,25 +377155,26 @@ OMIM:618461 a owl:Class ; PMID:31866046 ; RO:0002525 CHR:9606chr17q25.3 ; RO:0003303 OMIM:618776 ; - oboInOwl:hasDbXref UMLS:C4320593, - UMLS:C5394053 ; oboInOwl:hasExactSynonym "NADH dehydrogenase (ubiquinone) complex i, assembly factor 8", "NDUFAF8", "chromosome 17 open reading frame 89", "nadh-ubiquinone oxidoreductase complex assembly factor 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284184 ; - skos:exactMatch HGNC_symbol:NDUFAF8 ; + skos:exactMatch UMLS:C4320593, + UMLS:C5394053, + HGNC:33551, + HGNC_symbol:NDUFAF8 ; biolink:category biolink:Gene . OMIM:618462 a owl:Class ; rdfs:label "bleeding disorder, platelet-type, 22" ; IAO:0000142 PMID:25370417, PMID:30213874 ; - oboInOwl:hasDbXref UMLS:C5193111 ; oboInOwl:hasExactSynonym "BDPLT22", "bleeding disorder, platelet-type, 22" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C5193111 ; biolink:category biolink:Disease . OMIM:618465 a owl:Class ; @@ -361559,18 +377182,18 @@ OMIM:618465 a owl:Class ; IAO:0000142 PMID:22464331, PMID:26365797, PMID:31597964 ; - oboInOwl:hasDbXref UMLS:C1428523 ; oboInOwl:hasExactSynonym "BRD9", "bromodomain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65980 ; - skos:exactMatch HGNC_symbol:BRD9 ; + skos:exactMatch UMLS:C1428523, + HGNC:25818, + HGNC_symbol:BRD9 ; biolink:category biolink:Gene . OMIM:618466 a owl:Class ; rdfs:label "BRIX1" ; IAO:0000142 PMID:11843177 ; - oboInOwl:hasDbXref UMLS:C1538972 ; oboInOwl:hasExactSynonym "BRIX1", "biogenesis of ribosomes brix1", "biogenesis of ribosomes, xenopus, homolog of, 1", @@ -361578,20 +377201,23 @@ OMIM:618466 a owl:Class ; "brx1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55299 ; - skos:exactMatch HGNC_symbol:BRIX1 ; + skos:exactMatch UMLS:C1538972, + HGNC:24170, + HGNC_symbol:BRIX1 ; biolink:category biolink:Gene . OMIM:618467 a owl:Class ; rdfs:label "SLF1" ; IAO:0000142 PMID:15632077, PMID:22036607 ; - oboInOwl:hasDbXref UMLS:C1538290 ; oboInOwl:hasExactSynonym "SLF1", "brct domain-containing protein 10", "smc5-smc6 complex localization factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84250 ; - skos:exactMatch HGNC_symbol:SLF1 ; + skos:exactMatch UMLS:C1538290, + HGNC:25408, + HGNC_symbol:SLF1 ; biolink:category biolink:Gene . OMIM:618468 a owl:Class ; @@ -361601,66 +377227,70 @@ OMIM:618468 a owl:Class ; PMID:30656450, PMID:31031012, PMID:31134736 ; - oboInOwl:hasDbXref UMLS:C5193113, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE76", "developmental and epileptic encephalopathy 76", "developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination", "epileptic encephalopathy, early infantile, 76" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5193113, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:618471 a owl:Class ; rdfs:label "RPF2" ; IAO:0000142 PMID:12048200, PMID:19170763 ; - oboInOwl:hasDbXref UMLS:C1427176 ; oboInOwl:hasExactSynonym "RPF2", "brix domain-containing protein 1", "ribosome production factor 2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84154 ; - skos:exactMatch HGNC_symbol:RPF2 ; + skos:exactMatch UMLS:C1427176, + HGNC:20870, + HGNC_symbol:RPF2 ; biolink:category biolink:Gene . OMIM:618472 a owl:Class ; rdfs:label "ASPG" ; IAO:0000142 PMID:21063096, PMID:24657844 ; - oboInOwl:hasDbXref UMLS:C2681123 ; oboInOwl:hasExactSynonym "ASPG", "asparaginase", "lysophospholipase, 60-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374569 ; - skos:exactMatch HGNC_symbol:ASPG ; + skos:exactMatch UMLS:C2681123, + HGNC:20123, + HGNC_symbol:ASPG ; biolink:category biolink:Gene . OMIM:618473 a owl:Class ; rdfs:label "EIF1AD" ; IAO:0000142 PMID:21559472 ; - oboInOwl:hasDbXref UMLS:C2239373 ; oboInOwl:hasExactSynonym "EIF1AD", "eif1a domain-containing protein", "eukaryotic translation initiation factor 1a domain-containing protein", "obelix" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84285 ; - skos:exactMatch HGNC_symbol:EIF1AD ; + skos:exactMatch UMLS:C2239373, + HGNC:28147, + HGNC_symbol:EIF1AD ; biolink:category biolink:Gene . OMIM:618474 a owl:Class ; rdfs:label "WDR83OS" ; IAO:0000142 PMID:21559472, PMID:32814900 ; - oboInOwl:hasDbXref UMLS:C3470245 ; oboInOwl:hasExactSynonym "WDR83OS", "asterix", "chromosome 19 open reading frame 56", "wdr83 opposite strand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51398 ; - skos:exactMatch HGNC_symbol:WDR83OS ; + skos:exactMatch UMLS:C3470245, + HGNC:30203, + HGNC_symbol:WDR83OS ; biolink:category biolink:Gene . OMIM:618476 a owl:Class ; @@ -361671,35 +377301,37 @@ OMIM:618476 a owl:Class ; PMID:28383543, PMID:30982608, PMID:30982609 ; - oboInOwl:hasDbXref UMLS:C5193117 ; oboInOwl:hasExactSynonym "BANDDOS", "brain abnormalities, neurodegeneration, and dysosteosclerosis" ; + skos:exactMatch UMLS:C5193117 ; biolink:category biolink:Disease . OMIM:618478 a owl:Class ; rdfs:label "FYB2" ; IAO:0000142 PMID:27335501 ; - oboInOwl:hasDbXref UMLS:C1823784 ; oboInOwl:hasExactSynonym "FYB2", "activation-dependent raft-recruited adap-like phosphoprotein", "chromosome 1 open reading frame 168", "fyn-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199920 ; - skos:exactMatch HGNC_symbol:FYB2 ; + skos:exactMatch UMLS:C1823784, + HGNC:27295, + HGNC_symbol:FYB2 ; biolink:category biolink:Gene . OMIM:618483 a owl:Class ; rdfs:label "LLGL2" ; IAO:0000142 PMID:21606200, PMID:30996345 ; - oboInOwl:hasDbXref UMLS:C1416872 ; oboInOwl:hasExactSynonym "LLGL2", "lethal giant larvae, drosophila, homolog of, 2", "llgl scribble cell polarity complex component 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3993 ; - skos:exactMatch HGNC_symbol:LLGL2 ; + skos:exactMatch UMLS:C1416872, + HGNC:6629, + HGNC_symbol:LLGL2 ; biolink:category biolink:Gene . OMIM:618484 a owl:Class ; @@ -361708,49 +377340,52 @@ OMIM:618484 a owl:Class ; PMID:19542096, PMID:24319099, PMID:27782104 ; - oboInOwl:hasDbXref UMLS:C5193121, - ORPHA:319332 ; oboInOwl:hasExactSynonym "AMC3", "arthrogryposis multiplex congenita 3, myogenic iia", "arthrogryposis multiplex congenita, myogenic iia" ; rdfs:subClassOf OMIMPS:617468 ; + skos:exactMatch UMLS:C5193121, + ORPHA:319332 ; biolink:category biolink:Disease . OMIM:618485 a owl:Class ; rdfs:label "ZBTB40IT1" ; IAO:0000142 PMID:30661131 ; - oboInOwl:hasDbXref UMLS:C5193122 ; oboInOwl:hasExactSynonym "ZBTB40IT1", "lncrna zbtb40it1", "long noncoding RNA zbtb40it1", "zbtb40 intronic transcript 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100874345 ; - skos:exactMatch HGNC_symbol:ZBTB40-IT1 ; + skos:exactMatch UMLS:C5193122, + HGNC:41493, + HGNC_symbol:ZBTB40-IT1 ; biolink:category biolink:Gene . OMIM:618486 a owl:Class ; rdfs:label "PLBD1" ; IAO:0000142 PMID:19019078 ; - oboInOwl:hasDbXref UMLS:C2678558 ; oboInOwl:hasExactSynonym "PLBD1", "phospholipase B domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79887 ; - skos:exactMatch HGNC_symbol:PLBD1 ; + skos:exactMatch UMLS:C2678558, + HGNC:26215, + HGNC_symbol:PLBD1 ; biolink:category biolink:Gene . OMIM:618487 a owl:Class ; rdfs:label "GPR151" ; IAO:0000142 PMID:25116430 ; - oboInOwl:hasDbXref UMLS:C1428170 ; oboInOwl:hasExactSynonym "GPR151", "g protein-coupled receptor 151", "galanin receptor 4", "galanin receptor-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134391 ; - skos:exactMatch HGNC_symbol:GPR151 ; + skos:exactMatch UMLS:C1428170, + HGNC:23624, + HGNC_symbol:GPR151 ; biolink:category biolink:Gene . OMIM:618488 a owl:Class ; @@ -361759,12 +377394,13 @@ OMIM:618488 a owl:Class ; PMID:22102906, PMID:25052073, PMID:30111894 ; - oboInOwl:hasDbXref UMLS:C1826594 ; oboInOwl:hasExactSynonym "PLD4", "phospholipase d family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122618 ; - skos:exactMatch HGNC_symbol:PLD4 ; + skos:exactMatch UMLS:C1826594, + HGNC:23792, + HGNC_symbol:PLD4 ; biolink:category biolink:Gene . OMIM:618489 a owl:Class ; @@ -361774,13 +377410,14 @@ OMIM:618489 a owl:Class ; PMID:20215511, PMID:24657164, PMID:27270427 ; - oboInOwl:hasDbXref UMLS:C1422561 ; oboInOwl:hasExactSynonym "BRD7", "bromodomain protein, 75-kd", "bromodomain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29117 ; - skos:exactMatch HGNC_symbol:BRD7 ; + skos:exactMatch UMLS:C1422561, + HGNC:14310, + HGNC_symbol:BRD7 ; biolink:category biolink:Gene . OMIM:618490 a owl:Class ; @@ -361788,35 +377425,37 @@ OMIM:618490 a owl:Class ; IAO:0000142 PMID:17454009, PMID:22933024, PMID:25031321 ; - oboInOwl:hasDbXref UMLS:C1425111 ; oboInOwl:hasExactSynonym "GPR107", "g protein-coupled receptor 107", "lung 7-transmembrane receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57720 ; - skos:exactMatch HGNC_symbol:GPR107 ; + skos:exactMatch UMLS:C1425111, + HGNC:17830, + HGNC_symbol:GPR107 ; biolink:category biolink:Gene . OMIM:618491 a owl:Class ; rdfs:label "GPR108" ; IAO:0000142 PMID:17454009, PMID:30332431 ; - oboInOwl:hasDbXref UMLS:C1425110 ; oboInOwl:hasExactSynonym "GPR108", "g protein-coupled receptor 108", "lung 7-transmembrane receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56927 ; - skos:exactMatch HGNC_symbol:GPR108 ; + skos:exactMatch UMLS:C1425110, + HGNC:17829, + HGNC_symbol:GPR108 ; biolink:category biolink:Gene . OMIM:618494 a owl:Class ; rdfs:label "congenital hypotonia, epilepsy, developmental delay, and digital anomalies" ; IAO:0000142 PMID:17067864, PMID:30827498 ; - oboInOwl:hasDbXref UMLS:C5193125 ; oboInOwl:hasExactSynonym "CHEDDA", "congenital hypotonia, epilepsy, developmental delay, and digital anomalies" ; + skos:exactMatch UMLS:C5193125 ; biolink:category biolink:Disease . OMIM:618500 a owl:Class ; @@ -361824,99 +377463,106 @@ OMIM:618500 a owl:Class ; IAO:0000142 PMID:28525974, PMID:31006510, PMID:31006513 ; - oboInOwl:hasDbXref UMLS:C5193131, - ORPHA:556955 ; oboInOwl:hasExactSynonym "HPE12", "holoprosencephaly 12 with or without pancreatic agenesis" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C5193131, + ORPHA:556955 ; biolink:category biolink:Disease . OMIM:618502 a owl:Class ; rdfs:label "BICRAL" ; IAO:0000142 PMID:29374058, PMID:9039502 ; - oboInOwl:hasDbXref UMLS:C4319857 ; oboInOwl:hasExactSynonym "BICRAL", "brd4-interacting chromatin remodeling complex-associated protein-like", "glioma tumor suppressor candidate region gene 1-like", "kiaa0240" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23506 ; - skos:exactMatch HGNC_symbol:BICRAL ; + skos:exactMatch UMLS:C4319857, + HGNC:21111, + HGNC_symbol:BICRAL ; biolink:category biolink:Gene . OMIM:618503 a owl:Class ; rdfs:label "POGLUT3" ; IAO:0000142 PMID:30127001 ; - oboInOwl:hasDbXref UMLS:C1537440 ; oboInOwl:hasExactSynonym "POGLUT3", "kdel motif-containing protein 2", "protein o-glucosyltransferase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143888 ; - skos:exactMatch HGNC_symbol:POGLUT3 ; + skos:exactMatch UMLS:C1537440, + HGNC:28496, + HGNC_symbol:POGLUT3 ; biolink:category biolink:Gene . OMIM:618507 a owl:Class ; rdfs:label "WAKMAR1" ; IAO:0000142 PMID:31019085 ; - oboInOwl:hasDbXref UMLS:C5193135 ; oboInOwl:hasExactSynonym "WAKMAR1", "lncrna wakmar1", "wound- and keratinocyte migration-associated long noncoding RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105372576 ; - skos:exactMatch HGNC_symbol:WAKMAR1 ; + skos:exactMatch UMLS:C5193135, + HGNC:53753, + HGNC_symbol:WAKMAR1 ; biolink:category biolink:Gene . OMIM:618508 a owl:Class ; rdfs:label "WAKMAR2" ; IAO:0000142 PMID:27189370, PMID:30594489 ; - oboInOwl:hasDbXref UMLS:C5193136 ; oboInOwl:hasExactSynonym "WAKMAR2", "lncrna wakmar2", "loc100130476", "wound- and keratinocyte migration-associated long noncoding RNA 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100130476 ; - skos:exactMatch HGNC_symbol:WAKMAR2 ; + skos:exactMatch UMLS:C5193136, + HGNC:53754, + HGNC_symbol:WAKMAR2 ; biolink:category biolink:Gene . OMIM:618509 a owl:Class ; rdfs:label "OR2M7" ; IAO:0000142 PMID:20585627, PMID:27965198 ; - oboInOwl:hasDbXref UMLS:C1426268 ; oboInOwl:hasExactSynonym "OR2M7", "olfactory receptor, family 2, subfamily m, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391196 ; - skos:exactMatch HGNC_symbol:OR2M7 ; + skos:exactMatch UMLS:C1426268, + HGNC:19594, + HGNC_symbol:OR2M7 ; biolink:category biolink:Gene . OMIM:618510 a owl:Class ; rdfs:label "DYTN" ; IAO:0000142 PMID:17233888 ; - oboInOwl:hasDbXref UMLS:C2239363 ; oboInOwl:hasExactSynonym "DYTN", "dystrotelin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391475 ; - skos:exactMatch HGNC_symbol:DYTN ; + skos:exactMatch UMLS:C2239363, + HGNC:23279, + HGNC_symbol:DYTN ; biolink:category biolink:Gene . OMIM:618514 a owl:Class ; rdfs:label "BRMS1L" ; IAO:0000142 PMID:15451426 ; - oboInOwl:hasDbXref UMLS:C1426981 ; oboInOwl:hasExactSynonym "BRMS1L", "breast cancer metastasis-suppressor 1-like protein", "brms1-like protein p40", "brms1-like transcriptional repressor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84312 ; - skos:exactMatch HGNC_symbol:BRMS1L ; + skos:exactMatch UMLS:C1426981, + HGNC:20512, + HGNC_symbol:BRMS1L ; biolink:category biolink:Gene . OMIM:618515 a owl:Class ; @@ -361924,23 +377570,25 @@ OMIM:618515 a owl:Class ; IAO:0000142 PMID:25612671, PMID:26268696, PMID:31048699 ; - oboInOwl:hasDbXref UMLS:C1540004 ; oboInOwl:hasExactSynonym "TMEM33", "transmembrane protein 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55161 ; - skos:exactMatch HGNC_symbol:TMEM33 ; + skos:exactMatch UMLS:C1540004, + HGNC:25541, + HGNC_symbol:TMEM33 ; biolink:category biolink:Gene . OMIM:618516 a owl:Class ; rdfs:label "OR14I1" ; IAO:0000142 PMID:30894498 ; - oboInOwl:hasDbXref UMLS:C2678541 ; oboInOwl:hasExactSynonym "OR14I1", "olfactory receptor, family 14, subfamily i, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401994 ; - skos:exactMatch HGNC_symbol:OR14I1 ; + skos:exactMatch UMLS:C2678541, + HGNC:19575, + HGNC_symbol:OR14I1 ; biolink:category biolink:Gene . OMIM:618517 a owl:Class ; @@ -361950,20 +377598,20 @@ OMIM:618517 a owl:Class ; PMID:28264047, PMID:31672914, PMID:9727400 ; - oboInOwl:hasDbXref UMLS:C1538275 ; oboInOwl:hasExactSynonym "ANGPTL7", "angiopoietin-like 7", "cornea-derived transcript 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10218 ; - skos:exactMatch HGNC_symbol:ANGPTL7 ; + skos:exactMatch UMLS:C1538275, + HGNC:24078, + HGNC_symbol:ANGPTL7 ; biolink:category biolink:Gene . OMIM:618518 a owl:Class ; rdfs:label "LINC00261" ; IAO:0000142 PMID:29272004, PMID:30923168 ; - oboInOwl:hasDbXref UMLS:C3470627 ; oboInOwl:hasExactSynonym "LINC00261", "definitive endoderm-associated long noncoding RNA 1", "foxa2-adjacent long noncoding RNA", @@ -361971,120 +377619,129 @@ OMIM:618518 a owl:Class ; "long intergenic noncoding RNA 261" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140828 ; - skos:exactMatch HGNC_symbol:LINC00261 ; + skos:exactMatch UMLS:C3470627, + HGNC:16189, + HGNC_symbol:LINC00261 ; biolink:category biolink:Gene . OMIM:618519 a owl:Class ; rdfs:label "C2ORF68" ; IAO:0000142 PMID:23778839, PMID:25023051 ; - oboInOwl:hasDbXref UMLS:C2681194 ; oboInOwl:hasExactSynonym "C2ORF68", "chromosome 2 open reading frame 68", "hcrcn81" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388969 ; - skos:exactMatch HGNC_symbol:C2orf68 ; + skos:exactMatch UMLS:C2681194, + HGNC:34353, + HGNC_symbol:C2orf68 ; biolink:category biolink:Gene . OMIM:618520 a owl:Class ; rdfs:label "EFCAB9" ; IAO:0000142 PMID:31056283 ; - oboInOwl:hasDbXref UMLS:C2681450 ; oboInOwl:hasExactSynonym "EFCAB9", "ef-hand calcium-binding domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285588 ; - skos:exactMatch HGNC_symbol:EFCAB9 ; + skos:exactMatch UMLS:C2681450, + HGNC:34530, + HGNC_symbol:EFCAB9 ; biolink:category biolink:Gene . OMIM:618521 a owl:Class ; rdfs:label "ARMC8" ; IAO:0000142 PMID:17467196, PMID:27712595 ; - oboInOwl:hasDbXref UMLS:C1538938 ; oboInOwl:hasExactSynonym "ARMC8", "armadillo repeat-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25852 ; - skos:exactMatch HGNC_symbol:ARMC8 ; + skos:exactMatch UMLS:C1538938, + HGNC:24999, + HGNC_symbol:ARMC8 ; biolink:category biolink:Gene . OMIM:618523 a owl:Class ; rdfs:label "hyper-ige recurrent infection syndrome 4b, autosomal recessive" ; IAO:0000142 PMID:28747427, PMID:30309848 ; - oboInOwl:hasDbXref UMLS:C5193141 ; oboInOwl:hasExactSynonym "HIES4B", "hyper-ige recurrent infection syndrome 4b, autosomal recessive" ; rdfs:subClassOf OMIMPS:147060 ; + skos:exactMatch UMLS:C5193141 ; biolink:category biolink:Disease . OMIM:618525 a owl:Class ; rdfs:label "CCDC33" ; IAO:0000142 PMID:20068295 ; - oboInOwl:hasDbXref UMLS:C1824557 ; oboInOwl:hasExactSynonym "CCDC33", "cancer/testis antigen 61", "coiled-coil domain-containing protein 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80125 ; - skos:exactMatch HGNC_symbol:CCDC33 ; + skos:exactMatch UMLS:C1824557, + HGNC:26552, + HGNC_symbol:CCDC33 ; biolink:category biolink:Gene . OMIM:618526 a owl:Class ; rdfs:label "PEAK3" ; IAO:0000142 PMID:31311869 ; - oboInOwl:hasDbXref UMLS:C1540287 ; oboInOwl:hasExactSynonym "PEAK3", "chromosome 19 open reading frame 35", "peak family member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374872 ; - skos:exactMatch HGNC_symbol:PEAK3 ; + skos:exactMatch UMLS:C1540287, + HGNC:24793, + HGNC_symbol:PEAK3 ; biolink:category biolink:Gene . OMIM:618528 a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 16 (hepatic type)" ; IAO:0000142 PMID:27592148, PMID:30157269 ; - oboInOwl:hasDbXref UMLS:C5193142 ; oboInOwl:hasExactSynonym "MTDPS16", "mitochondrial DNA depletion syndrome 16 (hepatic type)" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C5193142 ; biolink:category biolink:Disease . OMIM:618530 a owl:Class ; rdfs:label "STKLD1" ; IAO:0000142 PMID:30945277 ; - oboInOwl:hasDbXref UMLS:C1428730 ; oboInOwl:hasExactSynonym "STKLD1", "chromosome 9 open reading frame 96", "serine/threonine kinase-like domain containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:169436 ; - skos:exactMatch HGNC_symbol:STKLD1 ; + skos:exactMatch UMLS:C1428730, + HGNC:28669, + HGNC_symbol:STKLD1 ; biolink:category biolink:Gene . OMIM:618531 a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 6" ; IAO:0000142 PMID:30528822 ; - oboInOwl:hasDbXref UMLS:C5193144 ; oboInOwl:hasExactSynonym "EKVP6", "erythrokeratodermia variabilis et progressiva 6" ; rdfs:subClassOf OMIMPS:133200 ; + skos:exactMatch UMLS:C5193144 ; biolink:category biolink:Disease . OMIM:618532 a owl:Class ; rdfs:label "CLASRP" ; IAO:0000142 PMID:12169693 ; - oboInOwl:hasDbXref UMLS:C1425051 ; oboInOwl:hasExactSynonym "CLASRP", "clk4-associating serine/arginine-rich protein", "clk4-associating sr-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11129 ; - skos:exactMatch HGNC_symbol:CLASRP ; + skos:exactMatch UMLS:C1425051, + HGNC:17731, + HGNC_symbol:CLASRP ; biolink:category biolink:Gene . OMIM:618533 a owl:Class ; @@ -362092,10 +377749,10 @@ OMIM:618533 a owl:Class ; IAO:0000142 PMID:30245514, PMID:33169910, PMID:33605226 ; - oboInOwl:hasDbXref UMLS:C4760307 ; oboInOwl:hasExactSynonym "DFNA37", "deafness, autosomal dominant 37" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4760307 ; biolink:category biolink:Disease . OMIM:618536 a owl:Class ; @@ -362106,7 +377763,6 @@ OMIM:618536 a owl:Class ; PMID:20829348, PMID:26363554, PMID:28062851 ; - oboInOwl:hasDbXref UMLS:C1428911 ; oboInOwl:hasExactSynonym "CACTIN", "cactin, spliceosome c complex subunit", "cactus interactor, drosophila, homolog of", @@ -362114,20 +377770,23 @@ OMIM:618536 a owl:Class ; "ny-ren-24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58509 ; - skos:exactMatch HGNC_symbol:CACTIN ; + skos:exactMatch UMLS:C1428911, + HGNC:29938, + HGNC_symbol:CACTIN ; biolink:category biolink:Gene . OMIM:618537 a owl:Class ; rdfs:label "AVPI1" ; IAO:0000142 PMID:12356727, PMID:15140762 ; - oboInOwl:hasDbXref UMLS:C1429012 ; oboInOwl:hasExactSynonym "AVPI1", "arginine vasopressin-induced protein 1", "vasopressin-induced transcript 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60370 ; - skos:exactMatch HGNC_symbol:AVPI1 ; + skos:exactMatch UMLS:C1429012, + HGNC:30898, + HGNC_symbol:AVPI1 ; biolink:category biolink:Gene . OMIM:618538 a owl:Class ; @@ -362139,7 +377798,8 @@ OMIM:618538 a owl:Class ; "cb1 receptor-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25927 ; - skos:exactMatch HGNC_symbol:CNRIP1 ; + skos:exactMatch HGNC:24546, + HGNC_symbol:CNRIP1 ; biolink:category biolink:Gene . OMIM:618539 a owl:Class ; @@ -362151,7 +377811,8 @@ OMIM:618539 a owl:Class ; "calcium homeostasis endoplasmic reticulum protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10523 ; - skos:exactMatch HGNC_symbol:CHERP ; + skos:exactMatch HGNC:16930, + HGNC_symbol:CHERP ; biolink:category biolink:Gene . OMIM:618540 a owl:Class ; @@ -362161,7 +377822,8 @@ OMIM:618540 a owl:Class ; "cellular repressor of e1a-stimulated genes 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200407 ; - skos:exactMatch HGNC_symbol:CREG2 ; + skos:exactMatch HGNC:14272, + HGNC_symbol:CREG2 ; biolink:category biolink:Gene . OMIM:618541 a owl:Class ; @@ -362182,7 +377844,8 @@ OMIM:618542 a owl:Class ; "rab-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285282 ; - skos:exactMatch HGNC_symbol:RABL3 ; + skos:exactMatch HGNC:18072, + HGNC_symbol:RABL3 ; biolink:category biolink:Gene . OMIM:618543 a owl:Class ; @@ -362193,7 +377856,8 @@ OMIM:618543 a owl:Class ; "tetratricopeptide repeat domain-containing protein 40" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54777 ; - skos:exactMatch HGNC_symbol:CFAP46 ; + skos:exactMatch HGNC:25247, + HGNC_symbol:CFAP46 ; biolink:category biolink:Gene . OMIM:618544 a owl:Class ; @@ -362204,7 +377868,8 @@ OMIM:618544 a owl:Class ; "zinc finger- and scan domain-containing protein 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80345 ; - skos:exactMatch HGNC_symbol:ZSCAN16 ; + skos:exactMatch HGNC:20813, + HGNC_symbol:ZSCAN16 ; biolink:category biolink:Gene . OMIM:618545 a owl:Class ; @@ -362216,7 +377881,8 @@ OMIM:618545 a owl:Class ; "grpe-like 2, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134266 ; - skos:exactMatch HGNC_symbol:GRPEL2 ; + skos:exactMatch HGNC:21060, + HGNC_symbol:GRPEL2 ; biolink:category biolink:Gene . OMIM:618547 a owl:Class ; @@ -362236,7 +377902,8 @@ OMIM:618551 a owl:Class ; "microtubule-associated protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54627 ; - skos:exactMatch HGNC_symbol:MAP10 ; + skos:exactMatch HGNC:29265, + HGNC_symbol:MAP10 ; biolink:category biolink:Gene . OMIM:618552 a owl:Class ; @@ -362247,7 +377914,8 @@ OMIM:618552 a owl:Class ; "sperm acrosome-associated protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11092 ; - skos:exactMatch HGNC_symbol:SPACA9 ; + skos:exactMatch HGNC:1367, + HGNC_symbol:SPACA9 ; biolink:category biolink:Gene . OMIM:618553 a owl:Class ; @@ -362259,7 +377927,8 @@ OMIM:618553 a owl:Class ; "lncrna loc107985249" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:107985249 ; - skos:exactMatch HGNC_symbol:BMNCR ; + skos:exactMatch HGNC:54188, + HGNC_symbol:BMNCR ; biolink:category biolink:Gene . OMIM:618554 a owl:Class ; @@ -362271,7 +377940,8 @@ OMIM:618554 a owl:Class ; "zinc finger protein 84" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7637 ; - skos:exactMatch HGNC_symbol:ZNF84 ; + skos:exactMatch HGNC:13159, + HGNC_symbol:ZNF84 ; biolink:category biolink:Gene . OMIM:618556 a owl:Class ; @@ -362284,7 +377954,8 @@ OMIM:618556 a owl:Class ; "energy homeostasis-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375704 ; - skos:exactMatch HGNC_symbol:ENHO ; + skos:exactMatch HGNC:24838, + HGNC_symbol:ENHO ; biolink:category biolink:Gene . OMIM:618557 a owl:Class ; @@ -362292,12 +377963,12 @@ OMIM:618557 a owl:Class ; IAO:0000142 PMID:29422393, PMID:29961870, PMID:31032849 ; - oboInOwl:hasDbXref UMLS:C5231409, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE78", "developmental and epileptic encephalopathy 78", "epileptic encephalopathy, early infantile, 78" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5231409, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:618558 a owl:Class ; @@ -362311,7 +377982,8 @@ OMIM:618558 a owl:Class ; "g protein signaling modulator 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63940 ; - skos:exactMatch HGNC_symbol:GPSM3 ; + skos:exactMatch HGNC:13945, + HGNC_symbol:GPSM3 ; biolink:category biolink:Gene . OMIM:618560 a owl:Class ; @@ -362324,7 +377996,8 @@ OMIM:618560 a owl:Class ; "beta-1,4-n-acetyl-galactosaminyltransferase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338707 ; - skos:exactMatch HGNC_symbol:B4GALNT4 ; + skos:exactMatch HGNC:26315, + HGNC_symbol:B4GALNT4 ; biolink:category biolink:Gene . OMIM:618561 a owl:Class ; @@ -362337,7 +378010,8 @@ OMIM:618561 a owl:Class ; "pgap2-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80157 ; - skos:exactMatch HGNC_symbol:CWH43 ; + skos:exactMatch HGNC:26133, + HGNC_symbol:CWH43 ; biolink:category biolink:Gene . OMIM:618562 a owl:Class ; @@ -362348,7 +378022,8 @@ OMIM:618562 a owl:Class ; "testis-expressed gene 261" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113419 ; - skos:exactMatch HGNC_symbol:TEX261 ; + skos:exactMatch HGNC:30712, + HGNC_symbol:TEX261 ; biolink:category biolink:Gene . OMIM:618563 a owl:Class ; @@ -362361,7 +378036,8 @@ OMIM:618563 a owl:Class ; "solute carrier family 10 (sodium/bile acid cotransporter family), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201780 ; - skos:exactMatch HGNC_symbol:SLC10A4 ; + skos:exactMatch HGNC:22980, + HGNC_symbol:SLC10A4 ; biolink:category biolink:Gene . OMIM:618564 a owl:Class ; @@ -362389,7 +378065,8 @@ OMIM:618565 a owl:Class ; "hist1h1t2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:341567 ; - skos:exactMatch HGNC_symbol:H1-7 ; + skos:exactMatch HGNC:24893, + HGNC_symbol:H1-7 ; biolink:category biolink:Gene . OMIM:618566 a owl:Class ; @@ -362402,7 +378079,8 @@ OMIM:618566 a owl:Class ; "family with sequence similarity 173, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65990 ; - skos:exactMatch HGNC_symbol:ANTKMT ; + skos:exactMatch HGNC:14152, + HGNC_symbol:ANTKMT ; biolink:category biolink:Gene . OMIM:618568 a owl:Class ; @@ -362415,7 +378093,8 @@ OMIM:618568 a owl:Class ; "family with sequence similarity 173, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:134145 ; - skos:exactMatch HGNC_symbol:ATPSCKMT ; + skos:exactMatch HGNC:27029, + HGNC_symbol:ATPSCKMT ; biolink:category biolink:Gene . OMIM:618570 a owl:Class ; @@ -362433,7 +378112,8 @@ OMIM:618570 a owl:Class ; "tripartite motif-containing protein 71" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131405 ; - skos:exactMatch HGNC_symbol:TRIM71 ; + skos:exactMatch HGNC:32669, + HGNC_symbol:TRIM71 ; biolink:category biolink:Gene . OMIM:618574 a owl:Class ; @@ -362446,7 +378126,8 @@ OMIM:618574 a owl:Class ; "fmdsp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338599 ; - skos:exactMatch HGNC_symbol:DUSP29 ; + skos:exactMatch HGNC:23481, + HGNC_symbol:DUSP29 ; biolink:category biolink:Gene . OMIM:618575 a owl:Class ; @@ -362457,7 +378138,8 @@ OMIM:618575 a owl:Class ; "e2f1 mrna stabilizing long noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101927746 ; - skos:exactMatch HGNC_symbol:EMSLR ; + skos:exactMatch HGNC:54408, + HGNC_symbol:EMSLR ; biolink:category biolink:Gene . OMIM:618576 a owl:Class ; @@ -362469,7 +378151,8 @@ OMIM:618576 a owl:Class ; "zinc finger- and btb domain-containing protein 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65986 ; - skos:exactMatch HGNC_symbol:ZBTB10 ; + skos:exactMatch HGNC:30953, + HGNC_symbol:ZBTB10 ; biolink:category biolink:Gene . OMIM:618578 a owl:Class ; @@ -362489,7 +378172,8 @@ OMIM:618579 a owl:Class ; "mitochondrial atp synthase coupling factor B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27109 ; - skos:exactMatch HGNC_symbol:DMAC2L ; + skos:exactMatch HGNC:18799, + HGNC_symbol:DMAC2L ; biolink:category biolink:Gene . OMIM:618581 a owl:Class ; @@ -362501,7 +378185,8 @@ OMIM:618581 a owl:Class ; "dendritic cell progenitor protein, 58-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:340120 ; - skos:exactMatch HGNC_symbol:ANKRD34B ; + skos:exactMatch HGNC:33736, + HGNC_symbol:ANKRD34B ; biolink:category biolink:Gene . OMIM:618582 a owl:Class ; @@ -362515,7 +378200,8 @@ OMIM:618582 a owl:Class ; "solute carrier family 10, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347051 ; - skos:exactMatch HGNC_symbol:SLC10A5 ; + skos:exactMatch HGNC:22981, + HGNC_symbol:SLC10A5 ; biolink:category biolink:Gene . OMIM:618583 a owl:Class ; @@ -362523,14 +378209,15 @@ OMIM:618583 a owl:Class ; IAO:0000142 PMID:11042152, PMID:31226201, PMID:33243891 ; - oboInOwl:hasDbXref UMLS:C1425209 ; oboInOwl:hasExactSynonym "MTRES1", "chromosome 6 open reading frame 203", "hematopoietic stem/progenitor cell-expressed gene 230", "mitochondrial transcription rescue factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51250 ; - skos:exactMatch HGNC_symbol:MTRES1 ; + skos:exactMatch UMLS:C1425209, + HGNC:17971, + HGNC_symbol:MTRES1 ; biolink:category biolink:Gene . OMIM:618584 a owl:Class ; @@ -362543,7 +378230,8 @@ OMIM:618584 a owl:Class ; "thioredoxin-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:347736 ; - skos:exactMatch HGNC_symbol:NME9 ; + skos:exactMatch HGNC:21343, + HGNC_symbol:NME9 ; biolink:category biolink:Gene . OMIM:618585 a owl:Class ; @@ -362554,7 +378242,8 @@ OMIM:618585 a owl:Class ; "mitok" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79714 ; - skos:exactMatch HGNC_symbol:CCDC51 ; + skos:exactMatch HGNC:25714, + HGNC_symbol:CCDC51 ; biolink:category biolink:Gene . OMIM:618586 a owl:Class ; @@ -362567,7 +378256,8 @@ OMIM:618586 a owl:Class ; "wd repeat-containing protein 37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22884 ; - skos:exactMatch HGNC_symbol:WDR37 ; + skos:exactMatch HGNC:31406, + HGNC_symbol:WDR37 ; biolink:category biolink:Gene . OMIM:618588 a owl:Class ; @@ -362581,7 +378271,8 @@ OMIM:618588 a owl:Class ; "protein disulfide isomerase-like protein, testis-expressed" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:204474 ; - skos:exactMatch HGNC_symbol:PDILT ; + skos:exactMatch HGNC:27338, + HGNC_symbol:PDILT ; biolink:category biolink:Gene . OMIM:618589 a owl:Class ; @@ -362595,7 +378286,8 @@ OMIM:618589 a owl:Class ; "gddr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200504 ; - skos:exactMatch HGNC_symbol:GKN2 ; + skos:exactMatch HGNC:24588, + HGNC_symbol:GKN2 ; biolink:category biolink:Gene . OMIM:618592 a owl:Class ; @@ -362608,7 +378300,8 @@ OMIM:618592 a owl:Class ; "ring finger protein 217" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154214 ; - skos:exactMatch HGNC_symbol:RNF217 ; + skos:exactMatch HGNC:21487, + HGNC_symbol:RNF217 ; biolink:category biolink:Gene . OMIM:618593 a owl:Class ; @@ -362619,7 +378312,8 @@ OMIM:618593 a owl:Class ; "zinc finger protein 398" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57541 ; - skos:exactMatch HGNC_symbol:ZNF398 ; + skos:exactMatch HGNC:18373, + HGNC_symbol:ZNF398 ; biolink:category biolink:Gene . OMIM:618595 a owl:Class ; @@ -362636,7 +378330,8 @@ OMIM:618595 a owl:Class ; "ergic63" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10970 ; - skos:exactMatch HGNC_symbol:CKAP4 ; + skos:exactMatch HGNC:16991, + HGNC_symbol:CKAP4 ; biolink:category biolink:Gene . OMIM:618597 a owl:Class ; @@ -362647,7 +378342,8 @@ OMIM:618597 a owl:Class ; "brain-enriched guanylate kinase-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57596 ; - skos:exactMatch HGNC_symbol:BEGAIN ; + skos:exactMatch HGNC:24163, + HGNC_symbol:BEGAIN ; biolink:category biolink:Gene . OMIM:618599 a owl:Class ; @@ -362657,7 +378353,8 @@ OMIM:618599 a owl:Class ; "cadherin 24" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64403 ; - skos:exactMatch HGNC_symbol:CDH24 ; + skos:exactMatch HGNC:14265, + HGNC_symbol:CDH24 ; biolink:category biolink:Gene . OMIM:618600 a owl:Class ; @@ -362672,7 +378369,8 @@ OMIM:618600 a owl:Class ; "chromosome 4 open reading frame 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85438 ; - skos:exactMatch HGNC_symbol:CABS1 ; + skos:exactMatch HGNC:30710, + HGNC_symbol:CABS1 ; biolink:category biolink:Gene . OMIM:618601 a owl:Class ; @@ -362683,7 +378381,8 @@ OMIM:618601 a owl:Class ; "exonuclease 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64789 ; - skos:exactMatch HGNC_symbol:EXO5 ; + skos:exactMatch HGNC:26115, + HGNC_symbol:EXO5 ; biolink:category biolink:Gene . OMIM:618602 a owl:Class ; @@ -362695,7 +378394,8 @@ OMIM:618602 a owl:Class ; "adam metallopeptidase domain-containing protein 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:203102 ; - skos:exactMatch HGNC_symbol:ADAM32 ; + skos:exactMatch HGNC:15479, + HGNC_symbol:ADAM32 ; biolink:category biolink:Gene . OMIM:618605 a owl:Class ; @@ -362706,7 +378406,8 @@ OMIM:618605 a owl:Class ; "ankyrin repeat domain-containing protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122416 ; - skos:exactMatch HGNC_symbol:ANKRD9 ; + skos:exactMatch HGNC:20096, + HGNC_symbol:ANKRD9 ; biolink:category biolink:Gene . OMIM:618607 a owl:Class ; @@ -362719,7 +378420,8 @@ OMIM:618607 a owl:Class ; "yjefn domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374887 ; - skos:exactMatch HGNC_symbol:YJEFN3 ; + skos:exactMatch HGNC:24785, + HGNC_symbol:YJEFN3 ; biolink:category biolink:Gene . OMIM:618609 a owl:Class ; @@ -362732,7 +378434,8 @@ OMIM:618609 a owl:Class ; "prmc, e. coli, homolog of, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51409 ; - skos:exactMatch HGNC_symbol:HEMK1 ; + skos:exactMatch HGNC:24923, + HGNC_symbol:HEMK1 ; biolink:category biolink:Gene . OMIM:618610 a owl:Class ; @@ -362745,7 +378448,8 @@ OMIM:618610 a owl:Class ; "telomere-associated homeobox-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79618 ; - skos:exactMatch HGNC_symbol:HMBOX1 ; + skos:exactMatch HGNC:26137, + HGNC_symbol:HMBOX1 ; biolink:category biolink:Gene . OMIM:618611 a owl:Class ; @@ -362757,7 +378461,8 @@ OMIM:618611 a owl:Class ; "mcm8-9-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:78995 ; - skos:exactMatch HGNC_symbol:HROB ; + skos:exactMatch HGNC:28460, + HGNC_symbol:HROB ; biolink:category biolink:Gene . OMIM:618614 a owl:Class ; @@ -362769,7 +378474,8 @@ OMIM:618614 a owl:Class ; "testis-specific leucine zipper protein nurit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220082 ; - skos:exactMatch HGNC_symbol:CBY2 ; + skos:exactMatch HGNC:30720, + HGNC_symbol:CBY2 ; biolink:category biolink:Gene . OMIM:618615 a owl:Class ; @@ -362783,7 +378489,8 @@ OMIM:618615 a owl:Class ; "long intergenic noncoding RNA 848" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100859930 ; - skos:exactMatch HGNC_symbol:HEIH ; + skos:exactMatch HGNC:45049, + HGNC_symbol:HEIH ; biolink:category biolink:Gene . OMIM:618616 a owl:Class ; @@ -362800,7 +378507,8 @@ OMIM:618616 a owl:Class ; "mitogen-activated protein kinase 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:225689 ; - skos:exactMatch HGNC_symbol:MAPK15 ; + skos:exactMatch HGNC:24667, + HGNC_symbol:MAPK15 ; biolink:category biolink:Gene . OMIM:618617 a owl:Class ; @@ -362816,7 +378524,8 @@ OMIM:618617 a owl:Class ; "zinc finger protein, subfamily 4a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10467 ; - skos:exactMatch HGNC_symbol:ZNHIT1 ; + skos:exactMatch HGNC:21688, + HGNC_symbol:ZNHIT1 ; biolink:category biolink:Gene . OMIM:618621 a owl:Class ; @@ -362834,7 +378543,8 @@ OMIM:618621 a owl:Class ; "zinc finger protein 372" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51201 ; - skos:exactMatch HGNC_symbol:ZDHHC2 ; + skos:exactMatch HGNC:18469, + HGNC_symbol:ZDHHC2 ; biolink:category biolink:Gene . OMIM:618623 a owl:Class ; @@ -362850,7 +378560,8 @@ OMIM:618623 a owl:Class ; "rcf1, yeast, homolog of, a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25994 ; - skos:exactMatch HGNC_symbol:HIGD1A ; + skos:exactMatch HGNC:29527, + HGNC_symbol:HIGD1A ; biolink:category biolink:Gene . OMIM:618624 a owl:Class ; @@ -362874,7 +378585,8 @@ OMIM:618626 a owl:Class ; "protein phosphatase 1, regulatory subunit 121" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63935 ; - skos:exactMatch HGNC_symbol:PCIF1 ; + skos:exactMatch HGNC:16200, + HGNC_symbol:PCIF1 ; biolink:category biolink:Gene . OMIM:618627 a owl:Class ; @@ -362896,7 +378608,8 @@ OMIM:618627 a owl:Class ; "spermatogenesis-associated 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64395 ; - skos:exactMatch HGNC_symbol:GMCL1 ; + skos:exactMatch HGNC:23843, + HGNC_symbol:GMCL1 ; biolink:category biolink:Gene . OMIM:618628 a owl:Class ; @@ -362913,7 +378626,8 @@ OMIM:618628 a owl:Class ; "methyltransferase-like 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29081 ; - skos:exactMatch HGNC_symbol:METTL5 ; + skos:exactMatch HGNC:25006, + HGNC_symbol:METTL5 ; biolink:category biolink:Gene . OMIM:618629 a owl:Class ; @@ -362925,7 +378639,8 @@ OMIM:618629 a owl:Class ; "germ cell-less protein-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64396 ; - skos:exactMatch HGNC_symbol:GMCL2 ; + skos:exactMatch HGNC:19717, + HGNC_symbol:GMCL2 ; biolink:category biolink:Gene . OMIM:618630 a owl:Class ; @@ -362939,7 +378654,8 @@ OMIM:618630 a owl:Class ; "trna methyltransferase subunit 11-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51504 ; - skos:exactMatch HGNC_symbol:TRMT112 ; + skos:exactMatch HGNC:26940, + HGNC_symbol:TRMT112 ; biolink:category biolink:Gene . OMIM:618631 a owl:Class ; @@ -362953,7 +378669,8 @@ OMIM:618631 a owl:Class ; "nuclear rnai defective 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55051 ; - skos:exactMatch HGNC_symbol:NRDE2 ; + skos:exactMatch HGNC:20186, + HGNC_symbol:NRDE2 ; biolink:category biolink:Gene . OMIM:618632 a owl:Class ; @@ -362976,7 +378693,8 @@ OMIM:618633 a owl:Class ; "solute carrier family 5 (neutral amino acid transporters, system a), member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6527 ; - skos:exactMatch HGNC_symbol:SLC5A4 ; + skos:exactMatch HGNC:11039, + HGNC_symbol:SLC5A4 ; biolink:category biolink:Gene . OMIM:618634 a owl:Class ; @@ -362986,7 +378704,8 @@ OMIM:618634 a owl:Class ; "deleted 1n lymphocytic leukemia 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220107 ; - skos:exactMatch HGNC_symbol:DLEU7 ; + skos:exactMatch HGNC:17567, + HGNC_symbol:DLEU7 ; biolink:category biolink:Gene . OMIM:618636 a owl:Class ; @@ -362998,7 +378717,8 @@ OMIM:618636 a owl:Class ; "solute carrier family 5 (sodium/glucose cotransporter), member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:125206 ; - skos:exactMatch HGNC_symbol:SLC5A10 ; + skos:exactMatch HGNC:23155, + HGNC_symbol:SLC5A10 ; biolink:category biolink:Gene . OMIM:618638 a owl:Class ; @@ -363012,7 +378732,8 @@ OMIM:618638 a owl:Class ; "hect domain-containing e3 ubiquitin protein ligase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79654 ; - skos:exactMatch HGNC_symbol:HECTD3 ; + skos:exactMatch HGNC:26117, + HGNC_symbol:HECTD3 ; biolink:category biolink:Gene . OMIM:618639 a owl:Class ; @@ -363020,13 +378741,14 @@ OMIM:618639 a owl:Class ; IAO:0000142 PMID:31332380 ; RO:0002525 CHR:9606chr10q22.3 ; RO:0003303 OMIM:618637 ; - oboInOwl:hasDbXref UMLS:C3890651, - UMLS:C5231436 ; oboInOwl:hasExactSynonym "NUTM2BAS1", "nutm2b antisense RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101060691 ; - skos:exactMatch HGNC_symbol:NUTM2B-AS1 ; + skos:exactMatch UMLS:C3890651, + UMLS:C5231436, + HGNC:51204, + HGNC_symbol:NUTM2B-AS1 ; biolink:category biolink:Gene . OMIM:618640 a owl:Class ; @@ -363039,7 +378761,8 @@ OMIM:618640 a owl:Class ; "zinc finger ccch domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23144 ; - skos:exactMatch HGNC_symbol:ZC3H3 ; + skos:exactMatch HGNC:28972, + HGNC_symbol:ZC3H3 ; biolink:category biolink:Gene . OMIM:618642 a owl:Class ; @@ -363049,14 +378772,15 @@ OMIM:618642 a owl:Class ; PMID:17420289, PMID:28129444, PMID:9482736 ; - oboInOwl:hasDbXref UMLS:C1822713 ; oboInOwl:hasExactSynonym "SH3RF1", "plenty of sh3 domains", "ring finger protein 14", "sh3 domain-containing ring finger protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57630 ; - skos:exactMatch HGNC_symbol:SH3RF1 ; + skos:exactMatch UMLS:C1822713, + HGNC:17650, + HGNC_symbol:SH3RF1 ; biolink:category biolink:Gene . OMIM:618645 a owl:Class ; @@ -363069,7 +378793,8 @@ OMIM:618645 a owl:Class ; "phd finger protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57649 ; - skos:exactMatch HGNC_symbol:PHF12 ; + skos:exactMatch HGNC:20816, + HGNC_symbol:PHF12 ; biolink:category biolink:Gene . OMIM:618647 a owl:Class ; @@ -363081,7 +378806,8 @@ OMIM:618647 a owl:Class ; "c1q- and tumor necrosis factor-related protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114898 ; - skos:exactMatch HGNC_symbol:C1QTNF2 ; + skos:exactMatch HGNC:14325, + HGNC_symbol:C1QTNF2 ; biolink:category biolink:Gene . OMIM:618649 a owl:Class ; @@ -363098,7 +378824,8 @@ OMIM:618649 a owl:Class ; "hect domain-containing e3 ubiquitin protein ligase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25831 ; - skos:exactMatch HGNC_symbol:HECTD1 ; + skos:exactMatch HGNC:20157, + HGNC_symbol:HECTD1 ; biolink:category biolink:Gene . OMIM:618650 a owl:Class ; @@ -363112,16 +378839,17 @@ OMIM:618650 a owl:Class ; "ring finger protein 169" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254225 ; - skos:exactMatch HGNC_symbol:RNF169 ; + skos:exactMatch HGNC:26961, + HGNC_symbol:RNF169 ; biolink:category biolink:Gene . OMIM:618654 a owl:Class ; rdfs:label "myopathy, congenital, with structured cores and z-line abnormalities" ; IAO:0000142 PMID:30701273 ; - oboInOwl:hasDbXref UMLS:C5231445 ; oboInOwl:hasExactSynonym "MYOCOZ", "multiple structured core disease", "myopathy, congenital, with structured cores and z-line abnormalities" ; + skos:exactMatch UMLS:C5231445 ; biolink:category biolink:Disease . OMIM:618656 a owl:Class ; @@ -363134,7 +378862,8 @@ OMIM:618656 a owl:Class ; "proline- and glutamate-rich protein with coiled-coil domain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105371045 ; - skos:exactMatch HGNC_symbol:PERCC1 ; + skos:exactMatch HGNC:52293, + HGNC_symbol:PERCC1 ; biolink:category biolink:Gene . OMIM:618657 a owl:Class ; @@ -363148,7 +378877,8 @@ OMIM:618657 a owl:Class ; "la-related protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113251 ; - skos:exactMatch HGNC_symbol:LARP4 ; + skos:exactMatch HGNC:24320, + HGNC_symbol:LARP4 ; biolink:category biolink:Gene . OMIM:618661 a owl:Class ; @@ -363163,7 +378893,8 @@ OMIM:618661 a owl:Class ; "tpr repeat protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118491 ; - skos:exactMatch HGNC_symbol:CFAP70 ; + skos:exactMatch HGNC:30726, + HGNC_symbol:CFAP70 ; biolink:category biolink:Gene . OMIM:618668 a owl:Class ; @@ -363175,7 +378906,8 @@ OMIM:618668 a owl:Class ; "gamma-aminobutyric acid receptor, rh0-3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200959 ; - skos:exactMatch HGNC_symbol:GABRR3 ; + skos:exactMatch HGNC:17969, + HGNC_symbol:GABRR3 ; biolink:category biolink:Gene . OMIM:618669 a owl:Class ; @@ -363183,12 +378915,13 @@ OMIM:618669 a owl:Class ; IAO:0000142 PMID:28106072, PMID:28106076, PMID:31292544 ; - oboInOwl:hasDbXref UMLS:C1538136 ; oboInOwl:hasExactSynonym "YTHDF3", "yth n6-methyladenosine rna-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253943 ; - skos:exactMatch HGNC_symbol:YTHDF3 ; + skos:exactMatch UMLS:C1538136, + HGNC:26465, + HGNC_symbol:YTHDF3 ; biolink:category biolink:Gene . OMIM:618671 a owl:Class ; @@ -363196,13 +378929,14 @@ OMIM:618671 a owl:Class ; IAO:0000142 PMID:16647879, PMID:20074548, PMID:31462771 ; - oboInOwl:hasDbXref UMLS:C1427090 ; oboInOwl:hasExactSynonym "ZDHHC19", "dhhc domain-containing protein 19", "zinc finger dhhc domain-containing palmitoyltransferase 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131540 ; - skos:exactMatch HGNC_symbol:ZDHHC19 ; + skos:exactMatch UMLS:C1427090, + HGNC:20713, + HGNC_symbol:ZDHHC19 ; biolink:category biolink:Gene . OMIM:618673 a owl:Class ; @@ -363213,7 +378947,8 @@ OMIM:618673 a owl:Class ; "zyg11 family, member b, cell cycle regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79699 ; - skos:exactMatch HGNC_symbol:ZYG11B ; + skos:exactMatch HGNC:25820, + HGNC_symbol:ZYG11B ; biolink:category biolink:Gene . OMIM:618675 a owl:Class ; @@ -363223,7 +378958,8 @@ OMIM:618675 a owl:Class ; "zyg11 family, member a, cell cycle regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440590 ; - skos:exactMatch HGNC_symbol:ZYG11A ; + skos:exactMatch HGNC:32058, + HGNC_symbol:ZYG11A ; biolink:category biolink:Gene . OMIM:618676 a owl:Class ; @@ -363233,7 +378969,8 @@ OMIM:618676 a owl:Class ; "zinc finger- and btb domain-containing protein 43" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23099 ; - skos:exactMatch HGNC_symbol:ZBTB43 ; + skos:exactMatch HGNC:17908, + HGNC_symbol:ZBTB43 ; biolink:category biolink:Gene . OMIM:618677 a owl:Class ; @@ -363257,7 +378994,8 @@ OMIM:618678 a owl:Class ; "carboxylesterase-like urinary excreted protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221223 ; - skos:exactMatch HGNC_symbol:CES5A ; + skos:exactMatch HGNC:26459, + HGNC_symbol:CES5A ; biolink:category biolink:Gene . OMIM:618679 a owl:Class ; @@ -363269,7 +379007,8 @@ OMIM:618679 a owl:Class ; "gdnf family receptor alpha-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64096 ; - skos:exactMatch HGNC_symbol:GFRA4 ; + skos:exactMatch HGNC:13821, + HGNC_symbol:GFRA4 ; biolink:category biolink:Gene . OMIM:618681 a owl:Class ; @@ -363282,12 +379021,14 @@ OMIM:618681 a owl:Class ; OMIM:618682 a owl:Class ; rdfs:label "CFAP276" ; IAO:0000142 PMID:31199454 ; - oboInOwl:hasDbXref UMLS:C1823808 ; oboInOwl:hasExactSynonym "CFAP276", "chromosome 1 open reading frame 194", "cilia- and flagella-associated protein 276" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127003 ; + skos:exactMatch UMLS:C1823808, + HGNC:32331, + HGNC_symbol:CFAP276 ; biolink:category biolink:Gene . OMIM:618685 a owl:Class ; @@ -363302,7 +379043,8 @@ OMIM:618685 a owl:Class ; "transmembrane protein 63a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9725 ; - skos:exactMatch HGNC_symbol:TMEM63A ; + skos:exactMatch HGNC:29118, + HGNC_symbol:TMEM63A ; biolink:category biolink:Gene . OMIM:618686 a owl:Class ; @@ -363313,7 +379055,8 @@ OMIM:618686 a owl:Class ; "tektin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146279 ; - skos:exactMatch HGNC_symbol:TEKT5 ; + skos:exactMatch HGNC:26554, + HGNC_symbol:TEKT5 ; biolink:category biolink:Gene . OMIM:618689 a owl:Class ; @@ -363327,13 +379070,14 @@ OMIM:618689 a owl:Class ; PMID:31692205 ; RO:0002525 CHR:9606chr9q34.13 ; RO:0003303 OMIM:618718 ; - oboInOwl:hasDbXref UMLS:C1422545, - UMLS:C5231471 ; oboInOwl:hasExactSynonym "NTNG2", "netrin g2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84628 ; - skos:exactMatch HGNC_symbol:NTNG2 ; + skos:exactMatch UMLS:C1422545, + UMLS:C5231471, + HGNC:14288, + HGNC_symbol:NTNG2 ; biolink:category biolink:Gene . OMIM:618690 a owl:Class ; @@ -363348,7 +379092,8 @@ OMIM:618690 a owl:Class ; "psors1 candidate gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100130889 ; - skos:exactMatch HGNC_symbol:PSORS1C3 ; + skos:exactMatch HGNC:17203, + HGNC_symbol:PSORS1C3 ; biolink:category biolink:Gene . OMIM:618691 a owl:Class ; @@ -363362,7 +379107,8 @@ OMIM:618691 a owl:Class ; "transmembrane protein 266" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123591 ; - skos:exactMatch HGNC_symbol:TMEM266 ; + skos:exactMatch HGNC:26763, + HGNC_symbol:TMEM266 ; biolink:category biolink:Gene . OMIM:618692 a owl:Class ; @@ -363371,14 +379117,15 @@ OMIM:618692 a owl:Class ; PMID:23765749, PMID:30789911, PMID:8590280 ; - oboInOwl:hasDbXref UMLS:C1540180 ; oboInOwl:hasExactSynonym "VGLL4", "kiaa0121", "vestigial-like family member 4", "vgl4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9686 ; - skos:exactMatch HGNC_symbol:VGLL4 ; + skos:exactMatch UMLS:C1540180, + HGNC:28966, + HGNC_symbol:VGLL4 ; biolink:category biolink:Gene . OMIM:618693 a owl:Class ; @@ -363392,7 +379139,8 @@ OMIM:618693 a owl:Class ; "elastase 3a, pancreatic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10136 ; - skos:exactMatch HGNC_symbol:CELA3A ; + skos:exactMatch HGNC:15944, + HGNC_symbol:CELA3A ; biolink:category biolink:Gene . OMIM:618694 a owl:Class ; @@ -363402,14 +379150,15 @@ OMIM:618694 a owl:Class ; PMID:2826474, PMID:31369399, PMID:5635333 ; - oboInOwl:hasDbXref UMLS:C1423849, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "CELA3B", "chymotrypsin-like elastase 3a", "elastase 3b, pancreatic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23436 ; - skos:exactMatch HGNC_symbol:CELA3B ; + skos:exactMatch UMLS:C1423849, + UMLS:C2986382, + HGNC:15945, + HGNC_symbol:CELA3B ; biolink:category biolink:Gene . OMIM:618696 a owl:Class ; @@ -363420,19 +379169,21 @@ OMIM:618696 a owl:Class ; "golgi-associated olfactory signaling regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507003 ; - skos:exactMatch HGNC_symbol:GFY ; + skos:exactMatch HGNC:44663, + HGNC_symbol:GFY ; biolink:category biolink:Gene . OMIM:618698 a owl:Class ; rdfs:label "DUXB" ; IAO:0000142 PMID:26360614, PMID:27412763 ; - oboInOwl:hasDbXref UMLS:C2239362 ; oboInOwl:hasExactSynonym "DUXB", "double homeobox B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100033411 ; - skos:exactMatch HGNC_symbol:DUXB ; + skos:exactMatch UMLS:C2239362, + HGNC:33345, + HGNC_symbol:DUXB ; biolink:category biolink:Gene . OMIM:618700 a owl:Class ; @@ -363440,13 +379191,14 @@ OMIM:618700 a owl:Class ; IAO:0000142 PMID:21110847, PMID:26360614, PMID:27412763 ; - oboInOwl:hasDbXref UMLS:C4085168 ; oboInOwl:hasExactSynonym "CPHXL", "cytoplasmic polyadenylated homeobox 1", "cytoplasmic polyadenylated homeobox-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105371346 ; - skos:exactMatch HGNC_symbol:CPHXL ; + skos:exactMatch UMLS:C4085168, + HGNC:51815, + HGNC_symbol:CPHXL ; biolink:category biolink:Gene . OMIM:618701 a owl:Class ; @@ -363459,7 +379211,8 @@ OMIM:618701 a owl:Class ; "leucine twenty homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:342900 ; - skos:exactMatch HGNC_symbol:LEUTX ; + skos:exactMatch HGNC:31953, + HGNC_symbol:LEUTX ; biolink:category biolink:Gene . OMIM:618703 a owl:Class ; @@ -363471,7 +379224,6 @@ OMIM:618703 a owl:Class ; PMID:29941555, PMID:30619271, PMID:31570506 ; - oboInOwl:hasDbXref UMLS:C1421767 ; oboInOwl:hasExactSynonym "ZNF281", "gc box-binding zinc finger protein", "transcription factor zbp-99", @@ -363480,7 +379232,9 @@ OMIM:618703 a owl:Class ; "znp99" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23528 ; - skos:exactMatch HGNC_symbol:ZNF281 ; + skos:exactMatch UMLS:C1421767, + HGNC:13075, + HGNC_symbol:ZNF281 ; biolink:category biolink:Gene . OMIM:618704 a owl:Class ; @@ -363489,13 +379243,14 @@ OMIM:618704 a owl:Class ; PMID:20421426, PMID:21998195, PMID:25073043 ; - oboInOwl:hasDbXref UMLS:C3890126 ; oboInOwl:hasExactSynonym "CFAP221", "cilia- and flagella-associated protein 221", "primary ciliary dyskinesia protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200373 ; - skos:exactMatch HGNC_symbol:CFAP221 ; + skos:exactMatch UMLS:C3890126, + HGNC:33720, + HGNC_symbol:CFAP221 ; biolink:category biolink:Gene . OMIM:618705 a owl:Class ; @@ -363505,7 +379260,8 @@ OMIM:618705 a owl:Class ; "mbt domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54799 ; - skos:exactMatch HGNC_symbol:MBTD1 ; + skos:exactMatch HGNC:19866, + HGNC_symbol:MBTD1 ; biolink:category biolink:Gene . OMIM:618706 a owl:Class ; @@ -363517,7 +379273,8 @@ OMIM:618706 a owl:Class ; "long noncoding RNA hoxaas3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100133311 ; - skos:exactMatch HGNC_symbol:HOXA-AS3 ; + skos:exactMatch HGNC:43748, + HGNC_symbol:HOXA-AS3 ; biolink:category biolink:Gene . OMIM:618708 a owl:Class ; @@ -363531,7 +379288,8 @@ OMIM:618708 a owl:Class ; "neighbor of brca1 gene 2, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10230 ; - skos:exactMatch HGNC_symbol:NBR2 ; + skos:exactMatch HGNC:20691, + HGNC_symbol:NBR2 ; biolink:category biolink:Gene . OMIM:618710 a owl:Class ; @@ -363543,7 +379301,8 @@ OMIM:618710 a owl:Class ; "partner of nob1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56902 ; - skos:exactMatch HGNC_symbol:PNO1 ; + skos:exactMatch HGNC:32790, + HGNC_symbol:PNO1 ; biolink:category biolink:Gene . OMIM:618711 a owl:Class ; @@ -363553,7 +379312,8 @@ OMIM:618711 a owl:Class ; "methyltransferase-like 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:196074 ; - skos:exactMatch HGNC_symbol:METTL15 ; + skos:exactMatch HGNC:26606, + HGNC_symbol:METTL15 ; biolink:category biolink:Gene . OMIM:618712 a owl:Class ; @@ -363562,7 +379322,8 @@ OMIM:618712 a owl:Class ; "ankyrin repeat domain-containing protein 45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339416 ; - skos:exactMatch HGNC_symbol:ANKRD45 ; + skos:exactMatch HGNC:24786, + HGNC_symbol:ANKRD45 ; biolink:category biolink:Gene . OMIM:618713 a owl:Class ; @@ -363576,7 +379337,8 @@ OMIM:618713 a owl:Class ; "cystin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:192668 ; - skos:exactMatch HGNC_symbol:CYS1 ; + skos:exactMatch HGNC:18525, + HGNC_symbol:CYS1 ; biolink:category biolink:Gene . OMIM:618714 a owl:Class ; @@ -363589,7 +379351,8 @@ OMIM:618714 a owl:Class ; "rap1 gtpase-activating protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23108 ; - skos:exactMatch HGNC_symbol:RAP1GAP2 ; + skos:exactMatch HGNC:29176, + HGNC_symbol:RAP1GAP2 ; biolink:category biolink:Gene . OMIM:618715 a owl:Class ; @@ -363603,7 +379366,8 @@ OMIM:618715 a owl:Class ; "zinc finger protein 376" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64429 ; - skos:exactMatch HGNC_symbol:ZDHHC6 ; + skos:exactMatch HGNC:19160, + HGNC_symbol:ZDHHC6 ; biolink:category biolink:Gene . OMIM:618716 a owl:Class ; @@ -363615,7 +379379,8 @@ OMIM:618716 a owl:Class ; "autophagy 16-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:89849 ; - skos:exactMatch HGNC_symbol:ATG16L2 ; + skos:exactMatch HGNC:25464, + HGNC_symbol:ATG16L2 ; biolink:category biolink:Gene . OMIM:618717 a owl:Class ; @@ -363627,7 +379392,8 @@ OMIM:618717 a owl:Class ; "epithelial mitogen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255324 ; - skos:exactMatch HGNC_symbol:EPGN ; + skos:exactMatch HGNC:17470, + HGNC_symbol:EPGN ; biolink:category biolink:Gene . OMIM:618720 a owl:Class ; @@ -363642,7 +379408,8 @@ OMIM:618720 a owl:Class ; "peptide deformylase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64146 ; - skos:exactMatch HGNC_symbol:PDF ; + skos:exactMatch HGNC:30012, + HGNC_symbol:PDF ; biolink:category biolink:Gene . OMIM:618722 a owl:Class ; @@ -363655,16 +379422,17 @@ OMIM:618722 a owl:Class ; "family with sequence similarity 210, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116151 ; - skos:exactMatch HGNC_symbol:FAM210B ; + skos:exactMatch HGNC:16102, + HGNC_symbol:FAM210B ; biolink:category biolink:Gene . OMIM:618724 a owl:Class ; rdfs:label "heyn-sproul-jackson syndrome" ; IAO:0000142 PMID:30478443 ; - oboInOwl:hasDbXref UMLS:C5231475 ; oboInOwl:hasExactSynonym "HESJAS", "heyn-sproul-jackson syndrome", "microcephaly, short stature, and impaired intellectual development" ; + skos:exactMatch UMLS:C5231475 ; biolink:category biolink:Disease . OMIM:618726 a owl:Class ; @@ -363674,23 +379442,24 @@ OMIM:618726 a owl:Class ; PMID:31959991 ; RO:0002525 CHR:9606chr3p24.1 ; RO:0003303 OMIM:618781 ; - oboInOwl:hasDbXref UMLS:C1425630, - UMLS:C5394063 ; oboInOwl:hasExactSynonym "NEK10", "never 1n mitosis a-related kinase 10", "nima-related kinase 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:152110 ; - skos:exactMatch HGNC_symbol:NEK10 ; + skos:exactMatch UMLS:C1425630, + UMLS:C5394063, + HGNC:18592, + HGNC_symbol:NEK10 ; biolink:category biolink:Gene . OMIM:618729 a owl:Class ; rdfs:label "liang-wang syndrome" ; IAO:0000142 PMID:15194823, PMID:31152168 ; - oboInOwl:hasDbXref UMLS:C5231479 ; oboInOwl:hasExactSynonym "LIWAS", "liang-wang syndrome" ; + skos:exactMatch UMLS:C5231479 ; biolink:category biolink:Disease . OMIM:618735 a owl:Class ; @@ -363700,14 +379469,15 @@ OMIM:618735 a owl:Class ; PMID:31735294 ; RO:0002525 CHR:9606chr4q31.22 ; RO:0003303 OMIM:618745 ; - oboInOwl:hasDbXref UMLS:C1823533, - UMLS:C5231488 ; oboInOwl:hasExactSynonym "TTC29", "nyd-sp14", "tetratricopeptide repeat domain-containing protein 29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83894 ; - skos:exactMatch HGNC_symbol:TTC29 ; + skos:exactMatch UMLS:C1823533, + UMLS:C5231488, + HGNC:29936, + HGNC_symbol:TTC29 ; biolink:category biolink:Gene . OMIM:618738 a owl:Class ; @@ -363716,7 +379486,8 @@ OMIM:618738 a owl:Class ; "tubulin tyrosine ligase-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9654 ; - skos:exactMatch HGNC_symbol:TTLL4 ; + skos:exactMatch HGNC:28976, + HGNC_symbol:TTLL4 ; biolink:category biolink:Gene . OMIM:618739 a owl:Class ; @@ -363724,43 +379495,45 @@ OMIM:618739 a owl:Class ; IAO:0000142 PMID:20932329, PMID:26920047, PMID:29618518 ; - oboInOwl:hasDbXref UMLS:C1824809 ; oboInOwl:hasExactSynonym "CTDSPL2", "ctd small phosphatase-like protein 2", "small ctd phosphatase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51496 ; - skos:exactMatch HGNC_symbol:CTDSPL2 ; + skos:exactMatch UMLS:C1824809, + HGNC:26936, + HGNC_symbol:CTDSPL2 ; biolink:category biolink:Gene . OMIM:618740 a owl:Class ; rdfs:label "CCDC154" ; IAO:0000142 PMID:22895184 ; - oboInOwl:hasDbXref UMLS:C2681330 ; oboInOwl:hasExactSynonym "CCDC154", "chromosome 16 open reading frame 29", "coiled-coil domain-containing protein 154" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645811 ; - skos:exactMatch HGNC_symbol:CCDC154 ; + skos:exactMatch UMLS:C2681330, + HGNC:34454, + HGNC_symbol:CCDC154 ; biolink:category biolink:Gene . OMIM:618742 a owl:Class ; rdfs:label "ZBTB8A" ; IAO:0000142 PMID:23329847 ; - oboInOwl:hasDbXref UMLS:C1428355 ; oboInOwl:hasExactSynonym "ZBTB8A", "btb/poz and zinc finger domains factor on chromosome 1", "zinc finger- and btb domain-containing protein 8a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653121 ; - skos:exactMatch HGNC_symbol:ZBTB8A ; + skos:exactMatch UMLS:C1428355, + HGNC:24172, + HGNC_symbol:ZBTB8A ; biolink:category biolink:Gene . OMIM:618743 a owl:Class ; rdfs:label "PLPP7" ; IAO:0000142 PMID:19704009 ; - oboInOwl:hasDbXref UMLS:C1826651 ; oboInOwl:hasExactSynonym "PLPP7", "chromosome 9 open reading frame 67", "nuclear envelope transmembrane protein 39", @@ -363768,95 +379541,104 @@ OMIM:618743 a owl:Class ; "ppap2 domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84814 ; - skos:exactMatch HGNC_symbol:PLPP7 ; + skos:exactMatch UMLS:C1826651, + HGNC:28174, + HGNC_symbol:PLPP7 ; biolink:category biolink:Gene . OMIM:618746 a owl:Class ; rdfs:label "CTXN3" ; IAO:0000142 PMID:17786280 ; - oboInOwl:hasDbXref UMLS:C1429082 ; oboInOwl:hasExactSynonym "CTXN3", "cortexin 3", "kidney- and brain-expressed protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:613212 ; - skos:exactMatch HGNC_symbol:CTXN3 ; + skos:exactMatch UMLS:C1429082, + HGNC:31110, + HGNC_symbol:CTXN3 ; biolink:category biolink:Gene . OMIM:618747 a owl:Class ; rdfs:label "C1ORF61" ; IAO:0000142 PMID:10995546 ; - oboInOwl:hasDbXref UMLS:C1823207 ; oboInOwl:hasExactSynonym "C1ORF61", "chromosome 1 open reading frame 61", "croc4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10485 ; - skos:exactMatch HGNC_symbol:MIR9-1HG ; + skos:exactMatch UMLS:C1823207, + HGNC:30780, + HGNC_symbol:MIR9-1HG ; biolink:category biolink:Gene . OMIM:618749 a owl:Class ; rdfs:label "LRRC17" ; IAO:0000142 PMID:19336404, PMID:8982252 ; - oboInOwl:hasDbXref UMLS:C1424621 ; oboInOwl:hasExactSynonym "LRRC17", "leucine-rich repeat-containing protein 17", "p37nb" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10234 ; - skos:exactMatch HGNC_symbol:LRRC17 ; + skos:exactMatch UMLS:C1424621, + HGNC:16895, + HGNC_symbol:LRRC17 ; biolink:category biolink:Gene . OMIM:618750 a owl:Class ; rdfs:label "ABT1" ; IAO:0000142 PMID:10648625, PMID:15660422 ; - oboInOwl:hasDbXref UMLS:C1424941 ; oboInOwl:hasExactSynonym "ABT1", "activator of basal transcription 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29777 ; - skos:exactMatch HGNC_symbol:ABT1 ; + skos:exactMatch UMLS:C1424941, + HGNC:17369, + HGNC_symbol:ABT1 ; biolink:category biolink:Gene . OMIM:618753 a owl:Class ; rdfs:label "LRRC41" ; IAO:0000142 PMID:11384984, PMID:22709582 ; - oboInOwl:hasDbXref UMLS:C1825888 ; oboInOwl:hasExactSynonym "LRRC41", "leucine-rich repeat-containing protein 41", "muf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10489 ; - skos:exactMatch HGNC_symbol:LRRC41 ; + skos:exactMatch UMLS:C1825888, + HGNC:16917, + HGNC_symbol:LRRC41 ; biolink:category biolink:Gene . OMIM:618754 a owl:Class ; rdfs:label "CPQ" ; IAO:0000142 PMID:10206990 ; - oboInOwl:hasDbXref UMLS:C2985237 ; oboInOwl:hasExactSynonym "CPQ", "carboxypeptidase q", "plasma glutamate carboxypeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10404 ; - skos:exactMatch HGNC_symbol:CPQ ; + skos:exactMatch UMLS:C2985237, + HGNC:16910, + HGNC_symbol:CPQ ; biolink:category biolink:Gene . OMIM:618755 a owl:Class ; rdfs:label "STMP1" ; IAO:0000142 PMID:23073385, PMID:31836654 ; - oboInOwl:hasDbXref UMLS:C3469749 ; oboInOwl:hasExactSynonym "STMP1", "chromosome 7 open reading frame 73", "mm47", "short transmembrane mitochondrial protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:647087 ; - skos:exactMatch HGNC_symbol:STMP1 ; + skos:exactMatch UMLS:C3469749, + HGNC:41909, + HGNC_symbol:STMP1 ; biolink:category biolink:Gene . OMIM:618756 a owl:Class ; @@ -363864,41 +379646,44 @@ OMIM:618756 a owl:Class ; IAO:0000142 PMID:22294686, PMID:25217485, PMID:31740833 ; - oboInOwl:hasDbXref UMLS:C1538895 ; oboInOwl:hasExactSynonym "ABHD10", "abhydrolase domain-containing protein 10, depalmitoylase", "alpha-beta hydrolase domain-containing protein 10", "mycophenolic acid acyl-glucuronide esterase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55347 ; - skos:exactMatch HGNC_symbol:ABHD10 ; + skos:exactMatch UMLS:C1538895, + HGNC:25656, + HGNC_symbol:ABHD10 ; biolink:category biolink:Gene . OMIM:618757 a owl:Class ; rdfs:label "CYB561A3" ; IAO:0000142 PMID:23249217 ; - oboInOwl:hasDbXref UMLS:C3543729 ; oboInOwl:hasExactSynonym "CYB561A3", "cytochrome B ascorbate-dependent protein 3", "cytochrome b561 family, member a3", "lysosomal cytochrome B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220002 ; - skos:exactMatch HGNC_symbol:CYB561A3 ; + skos:exactMatch UMLS:C3543729, + HGNC:23014, + HGNC_symbol:CYB561A3 ; biolink:category biolink:Gene . OMIM:618758 a owl:Class ; rdfs:label "DRC3" ; IAO:0000142 PMID:11997338, PMID:27261005 ; - oboInOwl:hasDbXref UMLS:C1825895 ; oboInOwl:hasExactSynonym "DRC3", "cfap134", "dynein regulatory complex subunit 3", "leucine-rich repeat-containing protein 48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83450 ; - skos:exactMatch HGNC_symbol:DRC3 ; + skos:exactMatch UMLS:C1825895, + HGNC:25384, + HGNC_symbol:DRC3 ; biolink:category biolink:Gene . OMIM:618759 a owl:Class ; @@ -363906,13 +379691,14 @@ OMIM:618759 a owl:Class ; IAO:0000142 PMID:19338761, PMID:22989873, PMID:25717182 ; - oboInOwl:hasDbXref UMLS:C1427154 ; oboInOwl:hasExactSynonym "CABP7", "calcium-binding protein 7", "calneuron 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:164633 ; - skos:exactMatch HGNC_symbol:CABP7 ; + skos:exactMatch UMLS:C1427154, + HGNC:20834, + HGNC_symbol:CABP7 ; biolink:category biolink:Gene . OMIM:618762 a owl:Class ; @@ -363922,13 +379708,14 @@ OMIM:618762 a owl:Class ; PMID:24260472, PMID:30296565, PMID:9271375 ; - oboInOwl:hasDbXref UMLS:C1427424 ; oboInOwl:hasExactSynonym "2-prime-deoxynucleoside 5-prime-phosphate n-hydrolase 1", "DNPH1", "rcl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10591 ; - skos:exactMatch HGNC_symbol:DNPH1 ; + skos:exactMatch UMLS:C1427424, + HGNC:21218, + HGNC_symbol:DNPH1 ; biolink:category biolink:Gene . OMIM:618764 a owl:Class ; @@ -363937,14 +379724,15 @@ OMIM:618764 a owl:Class ; PMID:22415352, PMID:22982681, PMID:23178685 ; - oboInOwl:hasDbXref UMLS:C1428228 ; oboInOwl:hasExactSynonym "CACUL1", "cdk2-associated cullin 1", "cdk2-associated cullin domain-containing protein 1", "chromosome 10 open reading frame 46" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143384 ; - skos:exactMatch HGNC_symbol:CACUL1 ; + skos:exactMatch UMLS:C1428228, + HGNC:23727, + HGNC_symbol:CACUL1 ; biolink:category biolink:Gene . OMIM:618765 a owl:Class ; @@ -363952,21 +379740,21 @@ OMIM:618765 a owl:Class ; IAO:0000142 PMID:15056729, PMID:15660422, PMID:30073783 ; - oboInOwl:hasDbXref UMLS:C1825066 ; oboInOwl:hasExactSynonym "ESF1", "abt1-associated protein", "esf1 nucleolar pre-rrna-processing protein", "esf1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51575 ; - skos:exactMatch HGNC_symbol:ESF1 ; + skos:exactMatch UMLS:C1825066, + HGNC:15898, + HGNC_symbol:ESF1 ; biolink:category biolink:Gene . OMIM:618769 a owl:Class ; rdfs:label "DRC7" ; IAO:0000142 PMID:21289096, PMID:31961863 ; - oboInOwl:hasDbXref UMLS:C1540249 ; oboInOwl:hasExactSynonym "DRC7", "cfap50", "chromosome 16 open reading frame 50", @@ -363975,26 +379763,28 @@ OMIM:618769 a owl:Class ; "fap50" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84229 ; - skos:exactMatch HGNC_symbol:DRC7 ; + skos:exactMatch UMLS:C1540249, + HGNC:25289, + HGNC_symbol:DRC7 ; biolink:category biolink:Gene . OMIM:618771 a owl:Class ; rdfs:label "ABHD14A" ; IAO:0000142 PMID:14667578 ; - oboInOwl:hasDbXref UMLS:C1538897 ; oboInOwl:hasExactSynonym "ABHD14A", "abhydrolase domain-containing protein 14a", "dorz1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25864 ; - skos:exactMatch HGNC_symbol:ABHD14A ; + skos:exactMatch UMLS:C1538897, + HGNC:24538, + HGNC_symbol:ABHD14A ; biolink:category biolink:Gene . OMIM:618772 a owl:Class ; rdfs:label "CABLES2" ; IAO:0000142 PMID:11955625, PMID:14637168 ; - oboInOwl:hasDbXref UMLS:C1424021 ; oboInOwl:hasExactSynonym "CABLES2", "cdk5 and abl enzyme substrate 2", "chromosome 20 open reading frame 150", @@ -364002,7 +379792,9 @@ OMIM:618772 a owl:Class ; "interactor with cdk3 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81928 ; - skos:exactMatch HGNC_symbol:CABLES2 ; + skos:exactMatch UMLS:C1424021, + HGNC:16143, + HGNC_symbol:CABLES2 ; biolink:category biolink:Gene . OMIM:618774 a owl:Class ; @@ -364011,11 +379803,11 @@ OMIM:618774 a owl:Class ; PMID:22965664, PMID:31834374, PMID:31839203 ; - oboInOwl:hasDbXref UMLS:C5394044 ; oboInOwl:hasExactSynonym "CEBALID", "cebalid syndrome", "craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development", "mn1 c-terminal truncation syndrome" ; + skos:exactMatch UMLS:C5394044 ; biolink:category biolink:Disease . OMIM:618777 a owl:Class ; @@ -364023,33 +379815,34 @@ OMIM:618777 a owl:Class ; IAO:0000142 PMID:10403824, PMID:16476741, PMID:27881674 ; - oboInOwl:hasDbXref UMLS:C1413118 ; oboInOwl:hasExactSynonym "CAPN8", "calpain 8", "ncl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388743 ; - skos:exactMatch HGNC_symbol:CAPN8 ; + skos:exactMatch UMLS:C1413118, + HGNC:1485, + HGNC_symbol:CAPN8 ; biolink:category biolink:Gene . OMIM:618778 a owl:Class ; rdfs:label "deafness, autosomal dominant 75" ; IAO:0000142 PMID:31231791 ; - oboInOwl:hasDbXref UMLS:C5394059, - ORPHA:90635 ; oboInOwl:hasExactSynonym "DFNA75", "deafness, autosomal dominant 75" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C5394059, + ORPHA:90635 ; biolink:category biolink:Disease . OMIM:618780 a owl:Class ; rdfs:label "congenital heart defects, multiple types, 7" ; IAO:0000142 PMID:28991257, PMID:30232381 ; - oboInOwl:hasDbXref UMLS:C5394062, - ORPHA:3303 ; oboInOwl:hasExactSynonym "CHTD7", "congenital heart defects, multiple types, 7" ; + skos:exactMatch UMLS:C5394062, + ORPHA:3303 ; biolink:category biolink:Disease . OMIM:618783 a owl:Class ; @@ -364057,25 +379850,27 @@ OMIM:618783 a owl:Class ; IAO:0000142 PMID:23907122, PMID:7493655, PMID:9705831 ; - oboInOwl:hasDbXref UMLS:C1413182 ; oboInOwl:hasExactSynonym "CCNI", "cyclin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10983 ; - skos:exactMatch HGNC_symbol:CCNI ; + skos:exactMatch UMLS:C1413182, + HGNC:1595, + HGNC_symbol:CCNI ; biolink:category biolink:Gene . OMIM:618784 a owl:Class ; rdfs:label "PITHD1" ; IAO:0000142 PMID:31915251 ; - oboInOwl:hasDbXref UMLS:C1823748 ; oboInOwl:hasExactSynonym "PITHD1", "chromosome 1 open reading frame 128", "pith domain-containing protein 1", "txnl1 c-terminal like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57095 ; - skos:exactMatch HGNC_symbol:PITHD1 ; + skos:exactMatch UMLS:C1823748, + HGNC:25022, + HGNC_symbol:PITHD1 ; biolink:category biolink:Gene . OMIM:618785 a owl:Class ; @@ -364084,14 +379879,15 @@ OMIM:618785 a owl:Class ; PMID:20188555, PMID:23746640, PMID:28091603 ; - oboInOwl:hasDbXref UMLS:C1422795 ; oboInOwl:hasExactSynonym "CDCA2", "cell division cycle-associated protein 2", "protein phosphatase 1, regulatory subunit 81", "repo-man" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157313 ; - skos:exactMatch HGNC_symbol:CDCA2 ; + skos:exactMatch UMLS:C1422795, + HGNC:14623, + HGNC_symbol:CDCA2 ; biolink:category biolink:Gene . OMIM:618788 a owl:Class ; @@ -364102,88 +379898,95 @@ OMIM:618788 a owl:Class ; PMID:29115376 ; RO:0002525 CHR:9606chr22q13.2 ; RO:0003303 OMIM:619795 ; - oboInOwl:hasDbXref UMLS:C1824660 ; oboInOwl:hasExactSynonym "CCDC134", "coiled-coil domain-containing protein 134" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79879 ; - skos:exactMatch HGNC_symbol:CCDC134 ; + skos:exactMatch UMLS:C1824660, + HGNC:26185, + HGNC_symbol:CCDC134 ; biolink:category biolink:Gene . OMIM:618789 a owl:Class ; rdfs:label "CDV3" ; IAO:0000142 PMID:10497265, PMID:12359334 ; - oboInOwl:hasDbXref UMLS:C1824690 ; oboInOwl:hasExactSynonym "CDV3", "cdv3 homolog", "cdv3, mouse, homolog of", "h41" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55573 ; - skos:exactMatch HGNC_symbol:CDV3 ; + skos:exactMatch UMLS:C1824690, + HGNC:26928, + HGNC_symbol:CDV3 ; biolink:category biolink:Gene . OMIM:618790 a owl:Class ; rdfs:label "KCTD21" ; IAO:0000142 PMID:21472142 ; - oboInOwl:hasDbXref UMLS:C1825647 ; oboInOwl:hasExactSynonym "KCTD21", "kctd-containing, cul3 adaptor, suppressor of hedgehog 2", "potassium channel tetramerization domain-containing protein 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283219 ; - skos:exactMatch HGNC_symbol:KCTD21 ; + skos:exactMatch UMLS:C1825647, + HGNC:27452, + HGNC_symbol:KCTD21 ; biolink:category biolink:Gene . OMIM:618791 a owl:Class ; rdfs:label "KCTD6" ; IAO:0000142 PMID:21472142, PMID:22573887 ; - oboInOwl:hasDbXref UMLS:C1427766 ; oboInOwl:hasExactSynonym "KCTD6", "kctd-containing, cul3 adaptor, suppressor of hedgehog 3", "potassium channel tetramerization domain-containing protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200845 ; - skos:exactMatch HGNC_symbol:KCTD6 ; + skos:exactMatch UMLS:C1427766, + HGNC:22235, + HGNC_symbol:KCTD6 ; biolink:category biolink:Gene . OMIM:618794 a owl:Class ; rdfs:label "KBTBD11" ; IAO:0000142 PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1825643 ; oboInOwl:hasExactSynonym "KBTBD11", "kelch repeat- and btb/poz domain-containing protein 11", "kiaa0711" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9920 ; - skos:exactMatch HGNC_symbol:KBTBD11 ; + skos:exactMatch UMLS:C1825643, + HGNC:29104, + HGNC_symbol:KBTBD11 ; biolink:category biolink:Gene . OMIM:618796 a owl:Class ; rdfs:label "SAC3D1" ; IAO:0000142 PMID:15322101, PMID:18838617 ; - oboInOwl:hasDbXref UMLS:C1539720 ; oboInOwl:hasExactSynonym "SAC3D1", "sac3 domain-containing protein 1", "sac3 homology domain protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29901 ; - skos:exactMatch HGNC_symbol:SAC3D1 ; + skos:exactMatch UMLS:C1539720, + HGNC:30179, + HGNC_symbol:SAC3D1 ; biolink:category biolink:Gene . OMIM:618799 a owl:Class ; rdfs:label "CAPSL" ; IAO:0000142 PMID:18563381, PMID:31186450 ; - oboInOwl:hasDbXref UMLS:C1824527 ; oboInOwl:hasExactSynonym "CAPSL", "calcyphosine-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:133690 ; - skos:exactMatch HGNC_symbol:CAPSL ; + skos:exactMatch UMLS:C1824527, + HGNC:28375, + HGNC_symbol:CAPSL ; biolink:category biolink:Gene . OMIM:618802 a owl:Class ; @@ -364197,9 +380000,6 @@ OMIM:618802 a owl:Class ; PMID:31168944 ; RO:0002525 CHR:9606chr5q33.3 ; RO:0003303 OMIM:618800 ; - oboInOwl:hasDbXref UMLS:C1823272, - UMLS:C2986382, - UMLS:C5394101 ; oboInOwl:hasExactSynonym "THG1L", "induced 1n high glucose 1", "interphase cytoplasm foci protein 45", @@ -364207,38 +380007,44 @@ OMIM:618802 a owl:Class ; "trna-histidine guanylyltransferase 1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54974 ; - skos:exactMatch HGNC_symbol:THG1L ; + skos:exactMatch UMLS:C1823272, + UMLS:C2986382, + UMLS:C5394101, + HGNC:26053, + HGNC_symbol:THG1L ; biolink:category biolink:Gene . OMIM:618803 a owl:Class ; rdfs:label "respiratory papillomatosis, juvenile recurrent, congenital" ; IAO:0000142 PMID:31484767 ; - oboInOwl:hasDbXref UMLS:C5394112 ; oboInOwl:hasExactSynonym "JRRP", "respiratory papillomatosis, juvenile recurrent, congenital" ; + skos:exactMatch UMLS:C5394112 ; biolink:category biolink:Disease . OMIM:618809 a owl:Class ; rdfs:label "PIGBOS1" ; IAO:0000142 PMID:31653868 ; - oboInOwl:hasDbXref UMLS:C3890491 ; oboInOwl:hasExactSynonym "PIGBOS1", "pigb opposite strand 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101928527 ; - skos:exactMatch HGNC_symbol:PIGBOS1 ; + skos:exactMatch UMLS:C3890491, + HGNC:50696, + HGNC_symbol:PIGBOS1 ; biolink:category biolink:Gene . OMIM:618812 a owl:Class ; rdfs:label "C12ORF73" ; IAO:0000142 PMID:32161263 ; - oboInOwl:hasDbXref UMLS:C2681280 ; oboInOwl:hasExactSynonym "C12ORF73", "brawnin", "chromosome 12 open reading frame 73" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728568 ; - skos:exactMatch HGNC_symbol:C12orf73 ; + skos:exactMatch UMLS:C2681280, + HGNC:34450, + HGNC_symbol:C12orf73 ; biolink:category biolink:Gene . OMIM:618813 a owl:Class ; @@ -364246,72 +380052,77 @@ OMIM:618813 a owl:Class ; IAO:0000142 PMID:16901895, PMID:25959773, PMID:31699823 ; - oboInOwl:hasDbXref UMLS:C1823542 ; oboInOwl:hasExactSynonym "TTLL7", "tubulin tyrosine ligase-like 7", "tubulin tyrosine ligase-like family, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79739 ; - skos:exactMatch HGNC_symbol:TTLL7 ; + skos:exactMatch UMLS:C1823542, + HGNC:26242, + HGNC_symbol:TTLL7 ; biolink:category biolink:Gene . OMIM:618814 a owl:Class ; rdfs:label "KLRF2" ; IAO:0000142 PMID:23803857, PMID:28082678 ; - oboInOwl:hasDbXref UMLS:C3147703 ; oboInOwl:hasExactSynonym "KLRF2", "killer cell lectin-like receptor f2", "killer cell lectin-like receptor, subfamily f, member 2", "nkp65" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100431172 ; - skos:exactMatch HGNC_symbol:KLRF2 ; + skos:exactMatch UMLS:C3147703, + HGNC:37646, + HGNC_symbol:KLRF2 ; biolink:category biolink:Gene . OMIM:618815 a owl:Class ; rdfs:label "chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant" ; IAO:0000142 PMID:32004445 ; RO:0002525 CHR:9606chr1p36.33 ; - oboInOwl:hasDbXref UMLS:C5394150 ; oboInOwl:hasExactSynonym "chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant" ; + skos:exactMatch UMLS:C5394150 ; biolink:category biolink:Disease . OMIM:618816 a owl:Class ; rdfs:label "CDYL2" ; IAO:0000142 PMID:12837688, PMID:18450745 ; - oboInOwl:hasDbXref UMLS:C1427863 ; oboInOwl:hasExactSynonym "CDYL2", "cdy-like protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124359 ; - skos:exactMatch HGNC_symbol:CDYL2 ; + skos:exactMatch UMLS:C1427863, + HGNC:23030, + HGNC_symbol:CDYL2 ; biolink:category biolink:Gene . OMIM:618817 a owl:Class ; rdfs:label "TMEM11" ; IAO:0000142 PMID:2110658, PMID:21274005 ; - oboInOwl:hasDbXref UMLS:C1823304 ; oboInOwl:hasExactSynonym "TMEM11", "pmi", "transmembrane protein 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8834 ; - skos:exactMatch HGNC_symbol:TMEM11 ; + skos:exactMatch UMLS:C1823304, + HGNC:16823, + HGNC_symbol:TMEM11 ; biolink:category biolink:Gene . OMIM:618818 a owl:Class ; rdfs:label "HCFC1R1" ; IAO:0000142 PMID:12235138 ; - oboInOwl:hasDbXref UMLS:C1427406 ; oboInOwl:hasExactSynonym "HCFC1R1", "hcf beta-propeller-interacting protein", "host cell factor c1 regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54985 ; - skos:exactMatch HGNC_symbol:HCFC1R1 ; + skos:exactMatch UMLS:C1427406, + HGNC:21198, + HGNC_symbol:HCFC1R1 ; biolink:category biolink:Gene . OMIM:618819 a owl:Class ; @@ -364319,50 +380130,52 @@ OMIM:618819 a owl:Class ; IAO:0000142 PMID:10825160, PMID:18302941, PMID:22187427 ; - oboInOwl:hasDbXref UMLS:C1427407 ; oboInOwl:hasExactSynonym "PBXIP1", "hematopoietic pbx1-interacting protein", "pbx homeobox-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57326 ; - skos:exactMatch HGNC_symbol:PBXIP1 ; + skos:exactMatch UMLS:C1427407, + HGNC:21199, + HGNC_symbol:PBXIP1 ; biolink:category biolink:Gene . OMIM:618823 a owl:Class ; rdfs:label "myopathy, congenital proximal, with minicore lesions" ; IAO:0000142 PMID:30770808 ; - oboInOwl:hasDbXref UMLS:C5394193 ; oboInOwl:hasExactSynonym "MYOPMIL", "myopathy, congenital proximal, with minicore lesions" ; + skos:exactMatch UMLS:C5394193 ; biolink:category biolink:Disease . OMIM:618828 a owl:Class ; rdfs:label "nabais sa-de vries syndrome, iia 1" ; IAO:0000142 PMID:32109420 ; - oboInOwl:hasDbXref UMLS:C5394218 ; oboInOwl:hasExactSynonym "NSDVS1", "nabais sa-de vries syndrome, iia 1", "neurodevelopmental disorder with microcephaly and dysmorphic facies" ; + skos:exactMatch UMLS:C5394218 ; biolink:category biolink:Disease . OMIM:618831 a owl:Class ; rdfs:label "TMEM37" ; IAO:0000142 PMID:27916633, PMID:29185012 ; - oboInOwl:hasDbXref UMLS:C1540007 ; oboInOwl:hasExactSynonym "TMEM37", "transmembrane protein 37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140738 ; - skos:exactMatch HGNC_symbol:TMEM37 ; + skos:exactMatch UMLS:C1540007, + HGNC:18216, + HGNC_symbol:TMEM37 ; biolink:category biolink:Gene . OMIM:618832 a owl:Class ; rdfs:label "epilepsy, early-onset, with or without developmental delay" ; IAO:0000142 PMID:31197650 ; - oboInOwl:hasDbXref UMLS:C5394228 ; oboInOwl:hasExactSynonym "EPEDD", "epilepsy, early-onset, with or without developmental delay" ; + skos:exactMatch UMLS:C5394228 ; biolink:category biolink:Disease . OMIM:618833 a owl:Class ; @@ -364370,27 +380183,29 @@ OMIM:618833 a owl:Class ; IAO:0000142 PMID:16490346, PMID:24814574, PMID:29915037 ; - oboInOwl:hasDbXref UMLS:C1825680 ; oboInOwl:hasExactSynonym "RALGAPB", "kiaa1219", "ral gtpase-activating protein, beta subunit", "ral gtpase-activating protein, noncatalytic subunit beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57148 ; - skos:exactMatch HGNC_symbol:RALGAPB ; + skos:exactMatch UMLS:C1825680, + HGNC:29221, + HGNC_symbol:RALGAPB ; biolink:category biolink:Gene . OMIM:618834 a owl:Class ; rdfs:label "LAMTOR4" ; IAO:0000142 PMID:22980980, PMID:31314152 ; - oboInOwl:hasDbXref UMLS:C3541686 ; oboInOwl:hasExactSynonym "LAMTOR4", "chromosome 7 open reading frame 59", "late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389541 ; - skos:exactMatch HGNC_symbol:LAMTOR4 ; + skos:exactMatch UMLS:C3541686, + HGNC:33772, + HGNC_symbol:LAMTOR4 ; biolink:category biolink:Gene . OMIM:618836 a owl:Class ; @@ -364398,7 +380213,6 @@ OMIM:618836 a owl:Class ; IAO:0000142 PMID:16490346, PMID:22450745, PMID:31058283 ; - oboInOwl:hasDbXref UMLS:C1424084 ; oboInOwl:hasExactSynonym "RALGAPA2", "akt substrate, 250-kd", "chromosome 20 open reading frame 74", @@ -364406,7 +380220,9 @@ OMIM:618836 a owl:Class ; "ral gtpase-activating protein, catalytic subunit alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57186 ; - skos:exactMatch HGNC_symbol:RALGAPA2 ; + skos:exactMatch UMLS:C1424084, + HGNC:16207, + HGNC_symbol:RALGAPA2 ; biolink:category biolink:Gene . OMIM:618837 a owl:Class ; @@ -364414,25 +380230,26 @@ OMIM:618837 a owl:Class ; IAO:0000142 PMID:11980562, PMID:21553234, PMID:8621662 ; - oboInOwl:hasDbXref UMLS:C1417056 ; oboInOwl:hasExactSynonym "LAPTM4A", "lysosome-associated protein, transmembrane 4, alpha", "lysosome-associated transmembrane protein 4, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9741 ; - skos:exactMatch HGNC_symbol:LAPTM4A ; + skos:exactMatch UMLS:C1417056, + HGNC:6924, + HGNC_symbol:LAPTM4A ; biolink:category biolink:Gene . OMIM:618840 a owl:Class ; rdfs:label "alopecia-intellectual disability syndrome 4" ; IAO:0000142 PMID:30401459, PMID:30723320 ; - oboInOwl:hasDbXref UMLS:C5394241, - ORPHA:2850 ; oboInOwl:hasExactSynonym "APMR4", "alopecia-intellectual disability syndrome 4", "alopecia-mental retardation syndrome 4" ; rdfs:subClassOf OMIMPS:203650 ; + skos:exactMatch UMLS:C5394241, + ORPHA:2850 ; biolink:category biolink:Disease . OMIM:618842 a owl:Class ; @@ -364440,12 +380257,13 @@ OMIM:618842 a owl:Class ; IAO:0000142 PMID:19851446, PMID:22549958, PMID:23039116 ; - oboInOwl:hasDbXref UMLS:C1539675 ; oboInOwl:hasExactSynonym "HORMAD2", "horma domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150280 ; - skos:exactMatch HGNC_symbol:HORMAD2 ; + skos:exactMatch UMLS:C1539675, + HGNC:28383, + HGNC_symbol:HORMAD2 ; biolink:category biolink:Gene . OMIM:618843 a owl:Class ; @@ -364454,12 +380272,13 @@ OMIM:618843 a owl:Class ; PMID:15913605, PMID:25150153, PMID:9786953 ; - oboInOwl:hasDbXref UMLS:C1825794 ; oboInOwl:hasExactSynonym "LAYN", "layilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:143903 ; - skos:exactMatch HGNC_symbol:LAYN ; + skos:exactMatch UMLS:C1825794, + HGNC:29471, + HGNC_symbol:LAYN ; biolink:category biolink:Gene . OMIM:618844 a owl:Class ; @@ -364467,7 +380286,6 @@ OMIM:618844 a owl:Class ; IAO:0000142 PMID:15889154, PMID:29030483, PMID:30442713 ; - oboInOwl:hasDbXref UMLS:C1427866 ; oboInOwl:hasExactSynonym "L3MBTL3", "kiaa1798", "l3mbt-like 3", @@ -364475,24 +380293,25 @@ OMIM:618844 a owl:Class ; "mbt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84456 ; - skos:exactMatch HGNC_symbol:L3MBTL3 ; + skos:exactMatch UMLS:C1427866, + HGNC:23035, + HGNC_symbol:L3MBTL3 ; biolink:category biolink:Gene . OMIM:618852 a owl:Class ; rdfs:label "autoinflammation with episodic fever and lymphadenopathy" ; IAO:0000142 PMID:31827280, PMID:31827281 ; - oboInOwl:hasDbXref UMLS:C5394286 ; oboInOwl:hasExactSynonym "AIEFL", "autoinflammation with episodic fever and lymphadenopathy", "cleavage-resistant ripk1-induced autoinflammatory syndrome", "cria syndrome" ; + skos:exactMatch UMLS:C5394286 ; biolink:category biolink:Disease . OMIM:618854 a owl:Class ; rdfs:label "SPCS3" ; IAO:0000142 PMID:9148931 ; - oboInOwl:hasDbXref UMLS:C1539819 ; oboInOwl:hasExactSynonym "SPCS3", "signal peptidase complex, subunit 3", "signal peptidase, 22-kd subunit", @@ -364500,7 +380319,9 @@ OMIM:618854 a owl:Class ; "spc3, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60559 ; - skos:exactMatch HGNC_symbol:SPCS3 ; + skos:exactMatch UMLS:C1539819, + HGNC:26212, + HGNC_symbol:SPCS3 ; biolink:category biolink:Gene . OMIM:618856 a owl:Class ; @@ -364518,13 +380339,13 @@ OMIM:618856 a owl:Class ; PMID:20022885, PMID:27223594, PMID:27555491 ; - oboInOwl:hasDbXref UMLS:C5394296, - UMLS:C5394597, - ORPHA:99885 ; oboInOwl:hasExactSynonym "PNDM2", "developmental delay, epilepsy, and neonatal diabetes 1", "diabetes mellitus, permanent neonatal, 2" ; rdfs:subClassOf OMIMPS:606176 ; + skos:exactMatch UMLS:C5394296, + UMLS:C5394597, + ORPHA:99885 ; biolink:category biolink:Disease . OMIM:618857 a owl:Class ; @@ -364534,13 +380355,13 @@ OMIM:618857 a owl:Class ; PMID:17213273, PMID:17635943, PMID:17668386 ; - oboInOwl:hasDbXref UMLS:C5394303, - UMLS:C5394304, - ORPHA:99885 ; oboInOwl:hasExactSynonym "PNDM3", "developmental delay, epilepsy, and neonatal diabetes 2", "diabetes mellitus, permanent neonatal, 3" ; rdfs:subClassOf OMIMPS:606176 ; + skos:exactMatch UMLS:C5394303, + UMLS:C5394304, + ORPHA:99885 ; biolink:category biolink:Disease . OMIM:618858 a owl:Class ; @@ -364550,35 +380371,37 @@ OMIM:618858 a owl:Class ; PMID:18171712, PMID:18451997, PMID:26101329 ; - oboInOwl:hasDbXref UMLS:C5394307, - ORPHA:99885 ; oboInOwl:hasExactSynonym "PNDM4", "diabetes mellitus, permanent neonatal, 4" ; rdfs:subClassOf OMIMPS:606176 ; + skos:exactMatch UMLS:C5394307, + ORPHA:99885 ; biolink:category biolink:Disease . OMIM:618860 a owl:Class ; rdfs:label "C1ORF87" ; IAO:0000142 PMID:28282151 ; - oboInOwl:hasDbXref UMLS:C1823707 ; oboInOwl:hasExactSynonym "C1ORF87", "carcinoma-related ef-hand protein", "chromosome 1 open reading frame 87" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127795 ; - skos:exactMatch HGNC_symbol:C1orf87 ; + skos:exactMatch UMLS:C1823707, + HGNC:28547, + HGNC_symbol:C1orf87 ; biolink:category biolink:Gene . OMIM:618861 a owl:Class ; rdfs:label "IGLON5" ; IAO:0000142 PMID:24703753, PMID:28210208 ; - oboInOwl:hasDbXref UMLS:C2681611 ; oboInOwl:hasExactSynonym "IGLON5", "iglon family, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402665 ; - skos:exactMatch HGNC_symbol:IGLON5 ; + skos:exactMatch UMLS:C2681611, + HGNC:34550, + HGNC_symbol:IGLON5 ; biolink:category biolink:Gene . OMIM:618864 a owl:Class ; @@ -364586,12 +380409,13 @@ OMIM:618864 a owl:Class ; IAO:0000142 PMID:12452007, PMID:18698046, PMID:19832994 ; - oboInOwl:hasDbXref UMLS:C1824489 ; oboInOwl:hasExactSynonym "C19ORF48", "chromosome 19 open reading frame 48" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84798 ; - skos:exactMatch HGNC_symbol:C19orf48 ; + skos:exactMatch UMLS:C1824489, + HGNC:29667, + HGNC_symbol:C19orf48 ; biolink:category biolink:Gene . OMIM:618865 a owl:Class ; @@ -364600,15 +380424,16 @@ OMIM:618865 a owl:Class ; PMID:32097630 ; RO:0002525 CHR:9606chr6q22.31 ; RO:0003303 OMIM:618873 ; - oboInOwl:hasDbXref UMLS:C3469888, - UMLS:C5394354 ; oboInOwl:hasExactSynonym "CEP85L", "centrosomal protein cep85l", "cep85-like protein", "chromosome 6 open reading frame 204" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:387119 ; - skos:exactMatch HGNC_symbol:CEP85L ; + skos:exactMatch UMLS:C3469888, + UMLS:C5394354, + HGNC:21638, + HGNC_symbol:CEP85L ; biolink:category biolink:Gene . OMIM:618867 a owl:Class ; @@ -364618,13 +380443,14 @@ OMIM:618867 a owl:Class ; PMID:25668492, PMID:25741038, PMID:30981505 ; - oboInOwl:hasDbXref UMLS:C1423669 ; oboInOwl:hasExactSynonym "RHOF", "ras homolog gene family, member f, filopodia-associated", "rho 1n filopodia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54509 ; - skos:exactMatch HGNC_symbol:RHOF ; + skos:exactMatch UMLS:C1423669, + HGNC:15703, + HGNC_symbol:RHOF ; biolink:category biolink:Gene . OMIM:618869 a owl:Class ; @@ -364632,14 +380458,15 @@ OMIM:618869 a owl:Class ; IAO:0000142 PMID:12853982, PMID:16427630, PMID:23128396 ; - oboInOwl:hasDbXref UMLS:C1427625 ; oboInOwl:hasExactSynonym "RNF144B", "p53-inducible ring finger protein", "pir2", "ring finger protein 144b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:255488 ; - skos:exactMatch HGNC_symbol:RNF144B ; + skos:exactMatch UMLS:C1427625, + HGNC:21578, + HGNC_symbol:RNF144B ; biolink:category biolink:Gene . OMIM:618871 a owl:Class ; @@ -364648,13 +380475,14 @@ OMIM:618871 a owl:Class ; PMID:21139582, PMID:21621533, PMID:25063526 ; - oboInOwl:hasDbXref UMLS:C1423545 ; oboInOwl:hasExactSynonym "ARHGEF16", "ephexin 4", "rho guanine nucleotide exchange factor 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27237 ; - skos:exactMatch HGNC_symbol:ARHGEF16 ; + skos:exactMatch UMLS:C1423545, + HGNC:15515, + HGNC_symbol:ARHGEF16 ; biolink:category biolink:Gene . OMIM:618874 a owl:Class ; @@ -364663,19 +380491,19 @@ OMIM:618874 a owl:Class ; PMID:18183042, PMID:22241097 ; RO:0002525 CHR:9606chr17q11.2 ; - oboInOwl:hasDbXref UMLS:C3495679, - ORPHA:139474 ; oboInOwl:hasExactSynonym "chromosome 17q11.2 duplication syndrome, 1.4-mb", "nf1 microduplication syndrome" ; + skos:exactMatch UMLS:C3495679, + ORPHA:139474 ; biolink:category biolink:Disease . OMIM:618880 a owl:Class ; rdfs:label "glaucoma, primary closed-angle" ; IAO:0000142 PMID:30007336, PMID:32339198 ; - oboInOwl:hasDbXref UMLS:C5394374 ; oboInOwl:hasExactSynonym "GLCC", "glaucoma, primary closed-angle" ; + skos:exactMatch UMLS:C5394374 ; biolink:category biolink:Disease . OMIM:618887 a owl:Class ; @@ -364685,42 +380513,45 @@ OMIM:618887 a owl:Class ; PMID:22761313, PMID:26973645, PMID:30127089 ; - oboInOwl:hasDbXref UMLS:C2681901 ; oboInOwl:hasExactSynonym "NFKBID", "i-kappa-bns", "nfkb inhibitor, delta", "nuclear factor kappa-b inhibitor, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84807 ; - skos:exactMatch HGNC_symbol:NFKBID ; + skos:exactMatch UMLS:C2681901, + HGNC:15671, + HGNC_symbol:NFKBID ; biolink:category biolink:Gene . OMIM:618888 a owl:Class ; rdfs:label "CASS4" ; IAO:0000142 PMID:18256281, PMID:26119091 ; - oboInOwl:hasDbXref UMLS:C1423799 ; oboInOwl:hasExactSynonym "CASS4", "cas scaffold protein family, member 4", "chromosome 20 open reading frame 32", "hef1-, efs-, and p130cas-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57091 ; - skos:exactMatch HGNC_symbol:CASS4 ; + skos:exactMatch UMLS:C1423799, + HGNC:15878, + HGNC_symbol:CASS4 ; biolink:category biolink:Gene . OMIM:618893 a owl:Class ; rdfs:label "NOL4L" ; IAO:0000142 PMID:21765475, PMID:26934290 ; - oboInOwl:hasDbXref UMLS:C1423987 ; oboInOwl:hasExactSynonym "NOL4L", "chromosome 20 open reading frame 112", "nol4l/pax5 fusion gene", "nucleolar protein 4-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140688 ; - skos:exactMatch HGNC_symbol:NOL4L ; + skos:exactMatch UMLS:C1423987, + HGNC:16106, + HGNC_symbol:NOL4L ; biolink:category biolink:Gene . OMIM:618894 a owl:Class ; @@ -364729,49 +380560,53 @@ OMIM:618894 a owl:Class ; PMID:22083756, PMID:29545371, PMID:30598479 ; - oboInOwl:hasDbXref UMLS:C1424062 ; oboInOwl:hasExactSynonym "ROMO1", "glycine-rich protein", "reactive oxygen species modulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140823 ; - skos:exactMatch HGNC_symbol:ROMO1 ; + skos:exactMatch UMLS:C1424062, + HGNC:16185, + HGNC_symbol:ROMO1 ; biolink:category biolink:Gene . OMIM:618895 a owl:Class ; rdfs:label "IZUMO2" ; IAO:0000142 PMID:19658160, PMID:22957301 ; - oboInOwl:hasDbXref UMLS:C1824482 ; oboInOwl:hasExactSynonym "IZUMO2", "izumo family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126123 ; - skos:exactMatch HGNC_symbol:IZUMO2 ; + skos:exactMatch UMLS:C1824482, + HGNC:28518, + HGNC_symbol:IZUMO2 ; biolink:category biolink:Gene . OMIM:618896 a owl:Class ; rdfs:label "IZUMO3" ; IAO:0000142 PMID:19658160, PMID:22957301 ; - oboInOwl:hasDbXref UMLS:C1538360 ; oboInOwl:hasExactSynonym "IZUMO3", "izumo family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100129669 ; - skos:exactMatch HGNC_symbol:IZUMO3 ; + skos:exactMatch UMLS:C1538360, + HGNC:31421, + HGNC_symbol:IZUMO3 ; biolink:category biolink:Gene . OMIM:618897 a owl:Class ; rdfs:label "IZUMO4" ; IAO:0000142 PMID:19658160, PMID:22957301 ; - oboInOwl:hasDbXref UMLS:C3147678 ; oboInOwl:hasExactSynonym "IZUMO4", "izumo family, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113177 ; - skos:exactMatch HGNC_symbol:IZUMO4 ; + skos:exactMatch UMLS:C3147678, + HGNC:26950, + HGNC_symbol:IZUMO4 ; biolink:category biolink:Gene . OMIM:618898 a owl:Class ; @@ -364779,13 +380614,14 @@ OMIM:618898 a owl:Class ; IAO:0000142 PMID:21399614, PMID:26220856, PMID:29712910 ; - oboInOwl:hasDbXref UMLS:C1824546 ; oboInOwl:hasExactSynonym "CEP85", "centrosomal protein, 85-kd", "coiled-coil domain-containing protein 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64793 ; - skos:exactMatch HGNC_symbol:CEP85 ; + skos:exactMatch UMLS:C1824546, + HGNC:25309, + HGNC_symbol:CEP85 ; biolink:category biolink:Gene . OMIM:618899 a owl:Class ; @@ -364794,59 +380630,63 @@ OMIM:618899 a owl:Class ; PMID:16115860, PMID:31775018, PMID:9425289 ; - oboInOwl:hasDbXref UMLS:C1428881, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "MAN2B2", "alpha-1,6-mannosidase", "mannosidase, alpha, class 2b, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23324 ; - skos:exactMatch HGNC_symbol:MAN2B2 ; + skos:exactMatch UMLS:C1428881, + UMLS:C2986382, + HGNC:29623, + HGNC_symbol:MAN2B2 ; biolink:category biolink:Gene . OMIM:618900 a owl:Class ; rdfs:label "ZCWPW1" ; IAO:0000142 PMID:32352380 ; - oboInOwl:hasDbXref UMLS:C1428099 ; oboInOwl:hasExactSynonym "ZCWPW1", "zinc finger cw-type domain- and pwwp domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55063 ; - skos:exactMatch HGNC_symbol:ZCWPW1 ; + skos:exactMatch UMLS:C1428099, + HGNC:23486, + HGNC_symbol:ZCWPW1 ; biolink:category biolink:Gene . OMIM:618901 a owl:Class ; rdfs:label "46,xx sex reversal 5" ; IAO:0000142 PMID:29478779, PMID:31687637 ; - oboInOwl:hasDbXref UMLS:C5394441 ; oboInOwl:hasExactSynonym "46,xx sex reversal 5", "SRXX5" ; + skos:exactMatch UMLS:C5394441 ; biolink:category biolink:Disease . OMIM:618902 a owl:Class ; rdfs:label "METTL2A" ; IAO:0000142 PMID:28655767 ; - oboInOwl:hasDbXref UMLS:C1825974 ; oboInOwl:hasExactSynonym "METTL2A", "methyltransferase 2a, methylcytidine", "methyltransferase-like 2a", "mettl2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339175 ; - skos:exactMatch HGNC_symbol:METTL2A ; + skos:exactMatch UMLS:C1825974, + HGNC:25755, + HGNC_symbol:METTL2A ; biolink:category biolink:Gene . OMIM:618903 a owl:Class ; rdfs:label "METTL6" ; IAO:0000142 PMID:28655767 ; - oboInOwl:hasDbXref UMLS:C1825975 ; oboInOwl:hasExactSynonym "METTL6", "methyltransferase 6, methylcytidine", "methyltransferase-like 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131965 ; - skos:exactMatch HGNC_symbol:METTL6 ; + skos:exactMatch UMLS:C1825975, + HGNC:28343, + HGNC_symbol:METTL6 ; biolink:category biolink:Gene . OMIM:618904 a owl:Class ; @@ -364854,13 +380694,14 @@ OMIM:618904 a owl:Class ; IAO:0000142 PMID:32427860 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:618910 ; - oboInOwl:hasDbXref UMLS:C1539217, - UMLS:C5394462 ; oboInOwl:hasExactSynonym "DALRD3", "dalr anticodon-binding domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55152 ; - skos:exactMatch HGNC_symbol:DALRD3 ; + skos:exactMatch UMLS:C1539217, + UMLS:C5394462, + HGNC:25536, + HGNC_symbol:DALRD3 ; biolink:category biolink:Gene . OMIM:618905 a owl:Class ; @@ -364887,12 +380728,12 @@ OMIM:618905 a owl:Class ; PMID:9272165, PMID:9448292 ; RO:0002525 CHR:9606chr7p13-q32 ; - oboInOwl:hasDbXref UMLS:C5394446, - UMLS:C5400127 ; oboInOwl:hasExactSynonym "SRS2", "silver-russell syndrome 2", "uniparental disomy, maternal, chromosome 7" ; rdfs:subClassOf OMIMPS:180860 ; + skos:exactMatch UMLS:C5394446, + UMLS:C5400127 ; biolink:category biolink:Disease . OMIM:618909 a owl:Class ; @@ -364903,7 +380744,6 @@ OMIM:618909 a owl:Class ; PMID:23329845, PMID:29742494, PMID:9857069 ; - oboInOwl:hasDbXref UMLS:C1423578 ; oboInOwl:hasExactSynonym "ILKAP", "ilk-associated serine/threonine phosphatase", "integrin-linked kinase-associated phosphatase", @@ -364911,37 +380751,39 @@ OMIM:618909 a owl:Class ; "protein phosphatase 2c, delta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80895 ; - skos:exactMatch HGNC_symbol:ILKAP ; + skos:exactMatch UMLS:C1423578, + HGNC:15566, + HGNC_symbol:ILKAP ; biolink:category biolink:Gene . OMIM:618911 a owl:Class ; rdfs:label "C16ORF92" ; IAO:0000142 PMID:32295885 ; - oboInOwl:hasDbXref UMLS:C2681297 ; oboInOwl:hasExactSynonym "C16ORF92", "chromosome 16 open reading frame 92", "fertilization-influencing membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146378 ; - skos:exactMatch HGNC_symbol:C16orf92 ; + skos:exactMatch UMLS:C2681297, + HGNC:26346, + HGNC_symbol:C16orf92 ; biolink:category biolink:Gene . OMIM:618913 a owl:Class ; rdfs:label "fanconi renotubular syndrome 5" ; IAO:0000142 PMID:17690917, PMID:27466185 ; - oboInOwl:hasDbXref UMLS:C5394473, - ORPHA:3337 ; oboInOwl:hasExactSynonym "FRTS5", "fanconi renotubular syndrome 5", "fanconi renotubular syndrome, acadian variant" ; rdfs:subClassOf OMIMPS:134600 ; + skos:exactMatch UMLS:C5394473, + ORPHA:3337 ; biolink:category biolink:Disease . OMIM:618919 a owl:Class ; rdfs:label "KLHL42" ; IAO:0000142 PMID:19261606 ; - oboInOwl:hasDbXref UMLS:C1537491 ; oboInOwl:hasExactSynonym "KLHL42", "cullin 3-binding protein 9", "kelch domain-containing protein 5", @@ -364949,31 +380791,35 @@ OMIM:618919 a owl:Class ; "kelch-like family, member 42" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57542 ; - skos:exactMatch HGNC_symbol:KLHL42 ; + skos:exactMatch UMLS:C1537491, + HGNC:29252, + HGNC_symbol:KLHL42 ; biolink:category biolink:Gene . OMIM:618921 a owl:Class ; rdfs:label "LACTB2" ; IAO:0000142 PMID:25823027, PMID:26826708 ; - oboInOwl:hasDbXref UMLS:C1425568 ; oboInOwl:hasExactSynonym "LACTB2", "lactamase, beta-2", "lactb2/ncoa2 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51110 ; - skos:exactMatch HGNC_symbol:LACTB2 ; + skos:exactMatch UMLS:C1425568, + HGNC:18512, + HGNC_symbol:LACTB2 ; biolink:category biolink:Gene . OMIM:618923 a owl:Class ; rdfs:label "FABP12" ; IAO:0000142 PMID:18786628 ; - oboInOwl:hasDbXref UMLS:C2681462 ; oboInOwl:hasExactSynonym "FABP12", "fatty acid-binding protein 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:646486 ; - skos:exactMatch HGNC_symbol:FABP12 ; + skos:exactMatch UMLS:C2681462, + HGNC:34524, + HGNC_symbol:FABP12 ; biolink:category biolink:Gene . OMIM:618924 a owl:Class ; @@ -364986,22 +380832,23 @@ OMIM:618924 a owl:Class ; PMID:28065826, PMID:30165711, PMID:30928199 ; - oboInOwl:hasDbXref UMLS:C5394520 ; oboInOwl:hasExactSynonym "EA9", "episodic ataxia, iia 9" ; rdfs:subClassOf OMIMPS:160120 ; + skos:exactMatch UMLS:C5394520 ; biolink:category biolink:Disease . OMIM:618925 a owl:Class ; rdfs:label "GPR171" ; IAO:0000142 PMID:24043826, PMID:31308196 ; - oboInOwl:hasDbXref UMLS:C1539606 ; oboInOwl:hasExactSynonym "GPR171", "g protein-coupled receptor 171" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29909 ; - skos:exactMatch HGNC_symbol:GPR171 ; + skos:exactMatch UMLS:C1539606, + HGNC:30057, + HGNC_symbol:GPR171 ; biolink:category biolink:Gene . OMIM:618926 a owl:Class ; @@ -365010,37 +380857,40 @@ OMIM:618926 a owl:Class ; PMID:26003732, PMID:30670012, PMID:9566981 ; - oboInOwl:hasDbXref UMLS:C1417948 ; oboInOwl:hasExactSynonym "OMD", "osteoadherin", "osteomodulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4958 ; - skos:exactMatch HGNC_symbol:OMD ; + skos:exactMatch UMLS:C1417948, + HGNC:8134, + HGNC_symbol:OMD ; biolink:category biolink:Gene . OMIM:618927 a owl:Class ; rdfs:label "KRTAP24-1" ; IAO:0000142 PMID:17235325 ; - oboInOwl:hasDbXref UMLS:C2239642 ; oboInOwl:hasExactSynonym "KRTAP24-1", "kap24.1", "keratin-associated protein 24-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:643803 ; - skos:exactMatch HGNC_symbol:KRTAP24-1 ; + skos:exactMatch UMLS:C2239642, + HGNC:33902, + HGNC_symbol:KRTAP24-1 ; biolink:category biolink:Gene . OMIM:618928 a owl:Class ; rdfs:label "LDHAL6A" ; IAO:0000142 PMID:18351441 ; - oboInOwl:hasDbXref UMLS:C1537556 ; oboInOwl:hasExactSynonym "LDHAL6A", "lactate dehydrogenase a-like protein 6a", "ldha-like protein 6a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:160287 ; - skos:exactMatch HGNC_symbol:LDHAL6A ; + skos:exactMatch UMLS:C1537556, + HGNC:28335, + HGNC_symbol:LDHAL6A ; biolink:category biolink:Gene . OMIM:618929 a owl:Class ; @@ -365049,20 +380899,21 @@ OMIM:618929 a owl:Class ; PMID:30796522, PMID:31585109, PMID:31650526 ; - oboInOwl:hasDbXref UMLS:C5394523 ; oboInOwl:hasExactSynonym "ACOGS", "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" ; + skos:exactMatch UMLS:C5394523 ; biolink:category biolink:Disease . OMIM:618930 a owl:Class ; rdfs:label "ANKRD18B" ; IAO:0000142 PMID:24249358 ; - oboInOwl:hasDbXref UMLS:C1538281 ; oboInOwl:hasExactSynonym "ANKRD18B", "ankyrin repeat domain-containing protein 18b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:441459 ; - skos:exactMatch HGNC_symbol:ANKRD18B ; + skos:exactMatch UMLS:C1538281, + HGNC:23644, + HGNC_symbol:ANKRD18B ; biolink:category biolink:Gene . OMIM:618931 a owl:Class ; @@ -365071,63 +380922,68 @@ OMIM:618931 a owl:Class ; PMID:31685995 ; RO:0002525 CHR:9606chr20q13.13 ; RO:0003303 OMIM:619644 ; - oboInOwl:hasDbXref UMLS:C1824076 ; oboInOwl:hasExactSynonym "ZNFX1", "zinc finger nfx1-type domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57169 ; - skos:exactMatch HGNC_symbol:ZNFX1 ; + skos:exactMatch UMLS:C1824076, + HGNC:29271, + HGNC_symbol:ZNFX1 ; biolink:category biolink:Gene . OMIM:618932 a owl:Class ; rdfs:label "OST4" ; IAO:0000142 PMID:21609714, PMID:23606741 ; - oboInOwl:hasDbXref UMLS:C2829972 ; oboInOwl:hasExactSynonym "OST4", "oligosaccharyltransferase complex, subunit 4, noncatalytic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100128731 ; - skos:exactMatch HGNC_symbol:OST4 ; + skos:exactMatch UMLS:C2829972, + HGNC:32483, + HGNC_symbol:OST4 ; biolink:category biolink:Gene . OMIM:618933 a owl:Class ; rdfs:label "SH3RF3" ; IAO:0000142 PMID:16374509, PMID:20696164 ; - oboInOwl:hasDbXref UMLS:C1428402 ; oboInOwl:hasExactSynonym "SH3RF3", "plenty of sh3 domains 2", "sh3 domain-containing ring finger protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344558 ; - skos:exactMatch HGNC_symbol:SH3RF3 ; + skos:exactMatch UMLS:C1428402, + HGNC:24699, + HGNC_symbol:SH3RF3 ; biolink:category biolink:Gene . OMIM:618934 a owl:Class ; rdfs:label "CCSER1" ; IAO:0000142 PMID:23665203, PMID:30298359 ; - oboInOwl:hasDbXref UMLS:C2829370 ; oboInOwl:hasExactSynonym "CCSER1", "coiled-coil serine-rich protein 1", "family with sequence similarity 190, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:401145 ; - skos:exactMatch HGNC_symbol:CCSER1 ; + skos:exactMatch UMLS:C2829370, + HGNC:29349, + HGNC_symbol:CCSER1 ; biolink:category biolink:Gene . OMIM:618936 a owl:Class ; rdfs:label "SPATA25" ; IAO:0000142 PMID:19240080 ; - oboInOwl:hasDbXref UMLS:C3469867 ; oboInOwl:hasExactSynonym "SPATA25", "chromosome 20 open reading frame 165", "spermatogenesis-associated protein 25", "testis-specific gene 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128497 ; - skos:exactMatch HGNC_symbol:SPATA25 ; + skos:exactMatch UMLS:C3469867, + HGNC:16158, + HGNC_symbol:SPATA25 ; biolink:category biolink:Gene . OMIM:618937 a owl:Class ; @@ -365135,19 +380991,19 @@ OMIM:618937 a owl:Class ; IAO:0000142 PMID:19389623, PMID:30168418, PMID:30230954 ; - oboInOwl:hasDbXref UMLS:C3471437 ; oboInOwl:hasExactSynonym "PPP1R35", "chromosome 7 open reading frame 47", "protein phosphatase 1, regulatory subunit 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221908 ; - skos:exactMatch HGNC_symbol:PPP1R35 ; + skos:exactMatch UMLS:C3471437, + HGNC:28320, + HGNC_symbol:PPP1R35 ; biolink:category biolink:Gene . OMIM:618938 a owl:Class ; rdfs:label "LASTR" ; IAO:0000142 PMID:31956895 ; - oboInOwl:hasDbXref UMLS:C5240280 ; oboInOwl:hasExactSynonym "LASTR", "lincrna 2657", "lncrna associated with sart3 regulation of splicing", @@ -365155,7 +381011,9 @@ OMIM:618938 a owl:Class ; "long noncoding RNA associated with sart3 regulation of splicing" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105376382 ; - skos:exactMatch HGNC_symbol:LASTR ; + skos:exactMatch UMLS:C5240280, + HGNC:54143, + HGNC_symbol:LASTR ; biolink:category biolink:Gene . OMIM:618941 a owl:Class ; @@ -365163,20 +381021,19 @@ OMIM:618941 a owl:Class ; IAO:0000142 PMID:32307552 ; RO:0002525 CHR:9606chr15q15.1 ; RO:0003303 OMIM:619123 ; - oboInOwl:hasDbXref UMLS:C1824556, - UMLS:C5436852 ; oboInOwl:hasExactSynonym "CCDC32", "coiled-coil domain-containing protein 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90416 ; - skos:exactMatch HGNC_symbol:CCDC32 ; + skos:exactMatch UMLS:C1824556, + UMLS:C5436852, + HGNC:28295, + HGNC_symbol:CCDC32 ; biolink:category biolink:Gene . OMIM:618942 a owl:Class ; rdfs:label "IQANK1" ; IAO:0000142 PMID:31871129 ; - oboInOwl:hasDbXref UMLS:C4320409, - UMLS:C5394549 ; oboInOwl:hasExactSynonym "IQANK1", "fam83h antisense RNA 1", "iq motif- and ankyrin repeat-containing protein 1", @@ -365184,53 +381041,59 @@ OMIM:618942 a owl:Class ; "long noncoding RNA fam83has1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642574 ; - skos:exactMatch HGNC_symbol:IQANK1 ; + skos:exactMatch UMLS:C4320409, + UMLS:C5394549, + HGNC:49576, + HGNC_symbol:IQANK1 ; biolink:category biolink:Gene . OMIM:618943 a owl:Class ; rdfs:label "SNORD8" ; IAO:0000142 PMID:10490628 ; - oboInOwl:hasDbXref UMLS:C1822912 ; oboInOwl:hasExactSynonym "SNORD8", "methylation guide for u6 RNA position 53", "rna, u6c small nucleolar", "small nucleolar rna, c/d box, 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:319103 ; - skos:exactMatch HGNC_symbol:SNORD8 ; + skos:exactMatch UMLS:C1822912, + HGNC:20159, + HGNC_symbol:SNORD8 ; biolink:category biolink:Gene . OMIM:618944 a owl:Class ; rdfs:label "hyper-ige recurrent infection syndrome 5, autosomal recessive" ; IAO:0000142 PMID:31235509 ; - oboInOwl:hasDbXref UMLS:C5394550 ; oboInOwl:hasExactSynonym "HIES5", "hyper-ige recurrent infection syndrome 5, autosomal recessive" ; rdfs:subClassOf OMIMPS:147060 ; + skos:exactMatch UMLS:C5394550 ; biolink:category biolink:Disease . OMIM:618945 a owl:Class ; rdfs:label "SPACA6" ; IAO:0000142 PMID:32393636 ; - oboInOwl:hasDbXref UMLS:C2681867 ; oboInOwl:hasExactSynonym "SPACA6", "sperm acrosome-associated protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147650 ; - skos:exactMatch HGNC_symbol:SPACA6 ; + skos:exactMatch UMLS:C2681867, + HGNC:27113, + HGNC_symbol:SPACA6 ; biolink:category biolink:Gene . OMIM:618946 a owl:Class ; rdfs:label "LLCFC1" ; IAO:0000142 PMID:32393636 ; - oboInOwl:hasDbXref UMLS:C1427740 ; oboInOwl:hasExactSynonym "LLCFC1", "chromosome 7 open reading frame 34", "llll motif- and cfnlas motif-containing protein 1", "sof1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135927 ; - skos:exactMatch HGNC_symbol:LLCFC1 ; + skos:exactMatch UMLS:C1427740, + HGNC:21750, + HGNC_symbol:LLCFC1 ; biolink:category biolink:Gene . OMIM:618947 a owl:Class ; @@ -365238,24 +381101,25 @@ OMIM:618947 a owl:Class ; IAO:0000142 PMID:28516161, PMID:29053766, PMID:30244176 ; - oboInOwl:hasDbXref UMLS:C5436453 ; oboInOwl:hasExactSynonym "AMC5", "arthrogryposis multiplex congenita 5" ; rdfs:subClassOf OMIMPS:617468 ; + skos:exactMatch UMLS:C5436453 ; biolink:category biolink:Disease . OMIM:618949 a owl:Class ; rdfs:label "RIMKLA" ; IAO:0000142 PMID:20657015, PMID:21454531 ; - oboInOwl:hasDbXref UMLS:C1825154 ; oboInOwl:hasExactSynonym "RIMKLA", "n-acetylaspartylglutamate synthetase 2", "naag synthetase 2", "ribosomal modification protein rimk-like family, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284716 ; - skos:exactMatch HGNC_symbol:RIMKLA ; + skos:exactMatch UMLS:C1825154, + HGNC:28725, + HGNC_symbol:RIMKLA ; biolink:category biolink:Gene . OMIM:618953 a owl:Class ; @@ -365263,12 +381127,13 @@ OMIM:618953 a owl:Class ; IAO:0000142 PMID:15059886, PMID:19090726, PMID:25701119 ; - oboInOwl:hasDbXref UMLS:C1539214 ; oboInOwl:hasExactSynonym "CYP4Z1", "cytochrome p450, family 4, subfamily z, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:199974 ; - skos:exactMatch HGNC_symbol:CYP4Z1 ; + skos:exactMatch UMLS:C1539214, + HGNC:20583, + HGNC_symbol:CYP4Z1 ; biolink:category biolink:Gene . OMIM:618956 a owl:Class ; @@ -365276,13 +381141,14 @@ OMIM:618956 a owl:Class ; IAO:0000142 PMID:16098514, PMID:16328882, PMID:21655954 ; - oboInOwl:hasDbXref UMLS:C1419384 ; oboInOwl:hasExactSynonym "RHEBL1", "rheb-like protein 1", "rheb2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:121268 ; - skos:exactMatch HGNC_symbol:RHEBL1 ; + skos:exactMatch UMLS:C1419384, + HGNC:21166, + HGNC_symbol:RHEBL1 ; biolink:category biolink:Gene . OMIM:618957 a owl:Class ; @@ -365290,45 +381156,47 @@ OMIM:618957 a owl:Class ; IAO:0000142 PMID:16525121, PMID:21187289, PMID:27103185 ; - oboInOwl:hasDbXref UMLS:C1428472 ; oboInOwl:hasExactSynonym "ANKRD27", "ankyrin repeat domain-containing protein 27", "vps9 domain- and ankyrin repeat domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84079 ; - skos:exactMatch HGNC_symbol:ANKRD27 ; + skos:exactMatch UMLS:C1428472, + HGNC:25310, + HGNC_symbol:ANKRD27 ; biolink:category biolink:Gene . OMIM:618960 a owl:Class ; rdfs:label "mitchell syndrome" ; IAO:0000142 PMID:32169171 ; - oboInOwl:hasDbXref UMLS:C5394554 ; oboInOwl:hasExactSynonym "MITCH", "mitchell syndrome" ; + skos:exactMatch UMLS:C5394554 ; biolink:category biolink:Disease . OMIM:618962 a owl:Class ; rdfs:label "OVCH2" ; IAO:0000142 PMID:20810007, PMID:32499443 ; - oboInOwl:hasDbXref UMLS:C1538556 ; oboInOwl:hasExactSynonym "OVCH2", "oviductin", "ovochymase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:341277 ; - skos:exactMatch HGNC_symbol:OVCH2 ; + skos:exactMatch UMLS:C1538556, + HGNC:29970, + HGNC_symbol:OVCH2 ; biolink:category biolink:Gene . OMIM:618963 a owl:Class ; rdfs:label "immunodeficiency 69" ; IAO:0000142 PMID:32163377 ; - oboInOwl:hasDbXref UMLS:C5436498 ; oboInOwl:hasExactSynonym "IMD69", "ifng deficiency, autosomal recessive", "immunodeficiency 69", "immunodeficiency 69, mycobacteriosis, autosomal recessive" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5436498 ; biolink:category biolink:Disease . OMIM:618964 a owl:Class ; @@ -365336,7 +381204,6 @@ OMIM:618964 a owl:Class ; IAO:0000142 PMID:18508925, PMID:24057215, PMID:29911972 ; - oboInOwl:hasDbXref UMLS:C1826834 ; oboInOwl:hasExactSynonym "RMND5A", "gid complex, subunit 2", "p44ctlh", @@ -365345,70 +381212,77 @@ OMIM:618964 a owl:Class ; "rmd5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64795 ; - skos:exactMatch HGNC_symbol:RMND5A ; + skos:exactMatch UMLS:C1826834, + HGNC:25850, + HGNC_symbol:RMND5A ; biolink:category biolink:Gene . OMIM:618965 a owl:Class ; rdfs:label "TM9SF1" ; IAO:0000142 PMID:19029833, PMID:9332367 ; - oboInOwl:hasDbXref UMLS:C1420772 ; oboInOwl:hasExactSynonym "TM9SF1", "multispanning membrane protein, 70 kd", "transmembrane protein 9 superfamily, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10548 ; - skos:exactMatch HGNC_symbol:TM9SF1 ; + skos:exactMatch UMLS:C1420772, + HGNC:11864, + HGNC_symbol:TM9SF1 ; biolink:category biolink:Gene . OMIM:618966 a owl:Class ; rdfs:label "TMEM161A" ; IAO:0000142 PMID:16551573 ; - oboInOwl:hasDbXref UMLS:C1823425 ; oboInOwl:hasExactSynonym "TMEM161A", "adaptive response to oxidative stress protein 29", "transmembrane protein 161a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54929 ; - skos:exactMatch HGNC_symbol:TMEM161A ; + skos:exactMatch UMLS:C1823425, + HGNC:26020, + HGNC_symbol:TMEM161A ; biolink:category biolink:Gene . OMIM:618967 a owl:Class ; rdfs:label "ABCF3" ; IAO:0000142 PMID:31413116 ; - oboInOwl:hasDbXref UMLS:C1412095 ; oboInOwl:hasExactSynonym "ABCF3", "atp-binding cassette, subfamily f, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55324 ; - skos:exactMatch HGNC_symbol:ABCF3 ; + skos:exactMatch UMLS:C1412095, + HGNC:72, + HGNC_symbol:ABCF3 ; biolink:category biolink:Gene . OMIM:618968 a owl:Class ; rdfs:label "C1ORF146" ; IAO:0000142 PMID:30746471, PMID:30949703 ; - oboInOwl:hasDbXref UMLS:C1823765 ; oboInOwl:hasExactSynonym "C1ORF146", "chromosome 1 open reading frame 146", "spo16, s. cerevisiae, homolog of", "synaptonemal complex reinforcing element" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:388649 ; - skos:exactMatch HGNC_symbol:C1orf146 ; + skos:exactMatch UMLS:C1823765, + HGNC:24032, + HGNC_symbol:C1orf146 ; biolink:category biolink:Gene . OMIM:618976 a owl:Class ; rdfs:label "MYOSLID" ; IAO:0000142 PMID:27444199 ; - oboInOwl:hasDbXref UMLS:C4320587 ; oboInOwl:hasExactSynonym "MYOSLID", "lncrna myoslid", "long noncoding RNA myoslid", "myocardin-induced smooth muscle long noncoding rna, inducer of differentiation" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:105373853 ; - skos:exactMatch HGNC_symbol:MYOSLID ; + skos:exactMatch UMLS:C4320587, + HGNC:51821, + HGNC_symbol:MYOSLID ; biolink:category biolink:Gene . OMIM:618977 a owl:Class ; @@ -365417,11 +381291,11 @@ OMIM:618977 a owl:Class ; PMID:29181157, PMID:32219868, PMID:32600459 ; - oboInOwl:hasDbXref UMLS:C5436534, - ORPHA:98673 ; oboInOwl:hasExactSynonym "OPA12", "optic atrophy 12" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C5436534, + ORPHA:98673 ; biolink:category biolink:Disease . OMIM:618978 a owl:Class ; @@ -365430,13 +381304,14 @@ OMIM:618978 a owl:Class ; PMID:25130899, PMID:31697912, PMID:32492420 ; - oboInOwl:hasDbXref UMLS:C1823428 ; oboInOwl:hasExactSynonym "TMEM163", "synaptic vesicle membrane protein, 31-kd", "transmembrane protein 163" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81615 ; - skos:exactMatch HGNC_symbol:TMEM163 ; + skos:exactMatch UMLS:C1823428, + HGNC:25380, + HGNC_symbol:TMEM163 ; biolink:category biolink:Gene . OMIM:618979 a owl:Class ; @@ -365444,9 +381319,9 @@ OMIM:618979 a owl:Class ; IAO:0000142 PMID:17357073, PMID:18288492, PMID:7717408 ; - oboInOwl:hasDbXref UMLS:C3888126 ; oboInOwl:hasExactSynonym "HDLCQ7", "high density lipoprotein cholesterol level quantitative trait locus 7" ; + skos:exactMatch UMLS:C3888126 ; biolink:category biolink:Disease . OMIM:618980 a owl:Class ; @@ -365456,15 +381331,16 @@ OMIM:618980 a owl:Class ; PMID:31654588 ; RO:0002525 CHR:9606chr17q24.1 ; RO:0003303 OMIM:619044 ; - oboInOwl:hasDbXref UMLS:C1824570, - UMLS:C5436678 ; oboInOwl:hasExactSynonym "CEP112", "centrosomal protein, 112-kd", "coiled-coil domain-containing protein 46", "macoco" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201134 ; - skos:exactMatch HGNC_symbol:CEP112 ; + skos:exactMatch UMLS:C1824570, + UMLS:C5436678, + HGNC:28514, + HGNC_symbol:CEP112 ; biolink:category biolink:Gene . OMIM:618981 a owl:Class ; @@ -365475,8 +381351,6 @@ OMIM:618981 a owl:Class ; PMID:31712251 ; RO:0002525 CHR:9606chr16p12.3 ; RO:0003303 OMIM:619135 ; - oboInOwl:hasDbXref UMLS:C2240311, - UMLS:C5436883 ; oboInOwl:hasExactSynonym "VPS35L", "chromosome 16 open reading frame 62", "ec97", @@ -365484,40 +381358,44 @@ OMIM:618981 a owl:Class ; "vps35-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57020 ; - skos:exactMatch HGNC_symbol:VPS35L ; + skos:exactMatch UMLS:C2240311, + UMLS:C5436883, + HGNC:24641, + HGNC_symbol:VPS35L ; biolink:category biolink:Gene . OMIM:618984 a owl:Class ; rdfs:label "SUN3" ; IAO:0000142 PMID:20711465, PMID:32156700 ; - oboInOwl:hasDbXref UMLS:C1539898 ; oboInOwl:hasExactSynonym "SUN3", "sad1 and unc84 domain-containing protein 3", "sun domain-containing protein 3", "sunc1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256979 ; - skos:exactMatch HGNC_symbol:SUN3 ; + skos:exactMatch UMLS:C1539898, + HGNC:22429, + HGNC_symbol:SUN3 ; biolink:category biolink:Gene . OMIM:618985 a owl:Class ; rdfs:label "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" ; IAO:0000142 PMID:29844444 ; - oboInOwl:hasDbXref UMLS:C5436546 ; oboInOwl:hasExactSynonym "GHISID2", "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" ; rdfs:subClassOf OMIMPS:245590 ; + skos:exactMatch UMLS:C5436546 ; biolink:category biolink:Disease . OMIM:618987 a owl:Class ; rdfs:label "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia" ; IAO:0000142 PMID:25512081 ; - oboInOwl:hasDbXref UMLS:C5436550, - ORPHA:183707 ; oboInOwl:hasExactSynonym "IMD73C", "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5436550, + ORPHA:183707 ; biolink:category biolink:Disease . OMIM:618988 a owl:Class ; @@ -365526,13 +381404,14 @@ OMIM:618988 a owl:Class ; PMID:33496845 ; RO:0002525 CHR:9606chr4p15.32 ; RO:0003303 OMIM:619174 ; - oboInOwl:hasDbXref UMLS:C2239304, - UMLS:C5436937 ; oboInOwl:hasExactSynonym "CLRN2", "clarin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645104 ; - skos:exactMatch HGNC_symbol:CLRN2 ; + skos:exactMatch UMLS:C2239304, + UMLS:C5436937, + HGNC:33939, + HGNC_symbol:CLRN2 ; biolink:category biolink:Gene . OMIM:618989 a owl:Class ; @@ -365540,13 +381419,14 @@ OMIM:618989 a owl:Class ; IAO:0000142 PMID:20025746, PMID:26250788, PMID:26884166 ; - oboInOwl:hasDbXref UMLS:C1823380 ; oboInOwl:hasExactSynonym "TMEM119", "osteoblast induction factor", "transmembrane protein 119" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338773 ; - skos:exactMatch HGNC_symbol:TMEM119 ; + skos:exactMatch UMLS:C1823380, + HGNC:27884, + HGNC_symbol:TMEM119 ; biolink:category biolink:Gene . OMIM:618990 a owl:Class ; @@ -365554,7 +381434,6 @@ OMIM:618990 a owl:Class ; IAO:0000142 PMID:17492404, PMID:27490928, PMID:28185834 ; - oboInOwl:hasDbXref UMLS:C1823431 ; oboInOwl:hasExactSynonym "EVA1A", "eva1 homolog a, regulator of programmed cell death", "eva1, c. elegans, homolog of, a", @@ -365562,7 +381441,9 @@ OMIM:618990 a owl:Class ; "transmembrane protein 166" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84141 ; - skos:exactMatch HGNC_symbol:EVA1A ; + skos:exactMatch UMLS:C1823431, + HGNC:25816, + HGNC_symbol:EVA1A ; biolink:category biolink:Gene . OMIM:618991 a owl:Class ; @@ -365570,33 +381451,35 @@ OMIM:618991 a owl:Class ; IAO:0000142 PMID:10495281, PMID:10997877, PMID:21122816 ; - oboInOwl:hasDbXref UMLS:C1419953 ; oboInOwl:hasExactSynonym "SEMA4G", "semaphorin 4g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57715 ; - skos:exactMatch HGNC_symbol:SEMA4G ; + skos:exactMatch UMLS:C1419953, + HGNC:10735, + HGNC_symbol:SEMA4G ; biolink:category biolink:Gene . OMIM:618992 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15" ; IAO:0000142 PMID:31469168 ; - oboInOwl:hasDbXref UMLS:C5436552 ; oboInOwl:hasExactSynonym "MDDGB15", "muscular dystrophy, congenital, dpm3-related", "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15" ; rdfs:subClassOf OMIMPS:613155 ; + skos:exactMatch UMLS:C5436552 ; biolink:category biolink:Disease . OMIM:618993 a owl:Class ; rdfs:label "RNF208" ; IAO:0000142 PMID:31862882 ; - oboInOwl:hasDbXref UMLS:C2239896 ; oboInOwl:hasExactSynonym "RNF208", "ring finger protein 208" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:727800 ; - skos:exactMatch HGNC_symbol:RNF208 ; + skos:exactMatch UMLS:C2239896, + HGNC:25420, + HGNC_symbol:RNF208 ; biolink:category biolink:Gene . OMIM:618994 a owl:Class ; @@ -365609,125 +381492,134 @@ OMIM:618994 a owl:Class ; PMID:9973289 ; RO:0002525 CHR:9606chr1p34.1 ; RO:0003303 OMIM:619027 ; - oboInOwl:hasDbXref UMLS:C1825370, - UMLS:C5436628, - UMLS:C5436637 ; oboInOwl:hasExactSynonym "4-hydroxyphenylpyruvate dioxygenase-like", "HPDL", "hpd-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84842 ; - skos:exactMatch HGNC_symbol:HPDL ; + skos:exactMatch UMLS:C1825370, + UMLS:C5436628, + UMLS:C5436637, + HGNC:28242, + HGNC_symbol:HPDL ; biolink:category biolink:Gene . OMIM:618995 a owl:Class ; rdfs:label "BPESC1" ; IAO:0000142 PMID:10995571 ; - oboInOwl:hasDbXref UMLS:C1421889 ; oboInOwl:hasExactSynonym "BPESC1", "blepharophimosis, ptosis, and epicanthus inversus candidate gene 1", "bpes candidate gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60467 ; - skos:exactMatch HGNC_symbol:BPESC1 ; + skos:exactMatch UMLS:C1421889, + HGNC:13228, + HGNC_symbol:BPESC1 ; biolink:category biolink:Gene . OMIM:618996 a owl:Class ; rdfs:label "LRRC3B" ; IAO:0000142 PMID:12667283, PMID:18377727 ; - oboInOwl:hasDbXref UMLS:C1537593 ; oboInOwl:hasExactSynonym "LRRC3B", "leucine-rich protein 15", "leucine-rich repeat-containing protein 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116135 ; - skos:exactMatch HGNC_symbol:LRRC3B ; + skos:exactMatch UMLS:C1537593, + HGNC:28105, + HGNC_symbol:LRRC3B ; biolink:category biolink:Gene . OMIM:618997 a owl:Class ; rdfs:label "CDADC1" ; IAO:0000142 PMID:16955368, PMID:26945630 ; - oboInOwl:hasDbXref UMLS:C1426841 ; oboInOwl:hasExactSynonym "CDADC1", "cytidine and dcmp deaminase domain-containing protein 1", "cytidine and deoxycytidylate deaminase domain-containing protein 1", "nyd-sp15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81602 ; - skos:exactMatch HGNC_symbol:CDADC1 ; + skos:exactMatch UMLS:C1426841, + HGNC:20299, + HGNC_symbol:CDADC1 ; biolink:category biolink:Gene . OMIM:619001 a owl:Class ; rdfs:label "ANGEL2" ; IAO:0000142 PMID:22547059, PMID:32732418 ; - oboInOwl:hasDbXref UMLS:C1823660 ; oboInOwl:hasExactSynonym "ANGEL2", "angel homolog 2", "angel, drosophila, homolog of, 2", "ccr4, s. cerevisiae, homolog of, d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90806 ; - skos:exactMatch HGNC_symbol:ANGEL2 ; + skos:exactMatch UMLS:C1823660, + HGNC:30534, + HGNC_symbol:ANGEL2 ; biolink:category biolink:Gene . OMIM:619002 a owl:Class ; rdfs:label "LRRC18" ; IAO:0000142 PMID:15707978 ; - oboInOwl:hasDbXref UMLS:C1537598 ; oboInOwl:hasExactSynonym "LRRC18", "leucine-rich repeat-containing protein 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:474354 ; - skos:exactMatch HGNC_symbol:LRRC18 ; + skos:exactMatch UMLS:C1537598, + HGNC:23199, + HGNC_symbol:LRRC18 ; biolink:category biolink:Gene . OMIM:619004 a owl:Class ; rdfs:label "deeah syndrome" ; IAO:0000142 PMID:28940097, PMID:32761064 ; - oboInOwl:hasDbXref UMLS:C5436579 ; oboInOwl:hasExactSynonym "DEEAH", "deeah syndrome", "developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities" ; + skos:exactMatch UMLS:C5436579 ; biolink:category biolink:Disease . OMIM:619006 a owl:Class ; rdfs:label "BIVM" ; IAO:0000142 PMID:12036287 ; - oboInOwl:hasDbXref UMLS:C1423926 ; oboInOwl:hasExactSynonym "BIVM", "basic immunoglobulin-like variable motif-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54841 ; - skos:exactMatch HGNC_symbol:BIVM ; + skos:exactMatch UMLS:C1423926, + HGNC:16034, + HGNC_symbol:BIVM ; biolink:category biolink:Gene . OMIM:619008 a owl:Class ; rdfs:label "LINC00598" ; IAO:0000142 PMID:27572135 ; - oboInOwl:hasDbXref UMLS:C1427631 ; oboInOwl:hasExactSynonym "LINC00598", "lincrna 598", "long intergenic noncoding RNA 598", "ttl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:646982 ; - skos:exactMatch HGNC_symbol:LINC00598 ; + skos:exactMatch UMLS:C1427631, + HGNC:42770, + HGNC_symbol:LINC00598 ; biolink:category biolink:Gene . OMIM:619010 a owl:Class ; rdfs:label "ATXN7L3" ; IAO:0000142 PMID:18206972 ; - oboInOwl:hasDbXref UMLS:C1538306 ; oboInOwl:hasExactSynonym "ATXN7L3", "atxn7-like 3", "sgf11, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56970 ; - skos:exactMatch HGNC_symbol:ATXN7L3 ; + skos:exactMatch UMLS:C1538306, + HGNC:25416, + HGNC_symbol:ATXN7L3 ; biolink:category biolink:Gene . OMIM:619014 a owl:Class ; @@ -365738,49 +381630,52 @@ OMIM:619014 a owl:Class ; PMID:32439809 ; RO:0002525 CHR:9606chr14q11.2 ; RO:0003303 OMIM:619244 ; - oboInOwl:hasDbXref UMLS:C1426138 ; oboInOwl:hasExactSynonym "TTC5", "tetratricopeptide repeat domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91875 ; - skos:exactMatch HGNC_symbol:TTC5 ; + skos:exactMatch UMLS:C1426138, + HGNC:19274, + HGNC_symbol:TTC5 ; biolink:category biolink:Gene . OMIM:619015 a owl:Class ; rdfs:label "ENY2" ; IAO:0000142 PMID:18206972 ; - oboInOwl:hasDbXref UMLS:C1825055 ; oboInOwl:hasExactSynonym "ENY2", "eny2 transcription and export complex 2 subunit", "ey2, drosophila, homolog of", "sus1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56943 ; - skos:exactMatch HGNC_symbol:ENY2 ; + skos:exactMatch UMLS:C1825055, + HGNC:24449, + HGNC_symbol:ENY2 ; biolink:category biolink:Gene . OMIM:619016 a owl:Class ; rdfs:label "ifap syndrome 2" ; IAO:0000142 PMID:32497488 ; - oboInOwl:hasDbXref UMLS:C5436607, - ORPHA:2273 ; oboInOwl:hasExactSynonym "IFAP2", "ichthyosis follicularis, atrichia, and photophobia syndrome 2", "ifap syndrome 2" ; rdfs:subClassOf OMIMPS:308205 ; + skos:exactMatch UMLS:C5436607, + ORPHA:2273 ; biolink:category biolink:Disease . OMIM:619017 a owl:Class ; rdfs:label "RHBDL3" ; IAO:0000142 PMID:11900977, PMID:17938163 ; - oboInOwl:hasDbXref UMLS:C1424334 ; oboInOwl:hasExactSynonym "RHBDL3", "rhomboid-like 3", "ventrhoid" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162494 ; - skos:exactMatch HGNC_symbol:RHBDL3 ; + skos:exactMatch UMLS:C1424334, + HGNC:16502, + HGNC_symbol:RHBDL3 ; biolink:category biolink:Gene . OMIM:619018 a owl:Class ; @@ -365788,59 +381683,64 @@ OMIM:619018 a owl:Class ; IAO:0000142 PMID:21741600, PMID:28977001, PMID:31093946 ; - oboInOwl:hasDbXref UMLS:C1537737 ; oboInOwl:hasExactSynonym "MIR30B", "micro RNA 30b", "mirna30b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407030 ; - skos:exactMatch HGNC_symbol:MIR30B ; + skos:exactMatch UMLS:C1537737, + HGNC:31625, + HGNC_symbol:MIR30B ; biolink:category biolink:Gene . OMIM:619019 a owl:Class ; rdfs:label "MIR30D" ; IAO:0000142 PMID:21741600 ; - oboInOwl:hasDbXref UMLS:C1537740 ; oboInOwl:hasExactSynonym "MIR30D", "micro RNA 30d", "mirna30d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407033 ; - skos:exactMatch HGNC_symbol:MIR30D ; + skos:exactMatch UMLS:C1537740, + HGNC:31628, + HGNC_symbol:MIR30D ; biolink:category biolink:Gene . OMIM:619020 a owl:Class ; rdfs:label "LRP2BP" ; IAO:0000142 PMID:12508107 ; - oboInOwl:hasDbXref UMLS:C1537591 ; oboInOwl:hasExactSynonym "LRP2BP", "lrp2-binding protein", "megalin-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55805 ; - skos:exactMatch HGNC_symbol:LRP2BP ; + skos:exactMatch UMLS:C1537591, + HGNC:25434, + HGNC_symbol:LRP2BP ; biolink:category biolink:Gene . OMIM:619021 a owl:Class ; rdfs:label "ANKRD37" ; IAO:0000142 PMID:15809689 ; - oboInOwl:hasDbXref UMLS:C1538295 ; oboInOwl:hasExactSynonym "ANKRD37", "ankyrin repeat domain-containing protein 37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353322 ; - skos:exactMatch HGNC_symbol:ANKRD37 ; + skos:exactMatch UMLS:C1538295, + HGNC:29593, + HGNC_symbol:ANKRD37 ; biolink:category biolink:Gene . OMIM:619022 a owl:Class ; rdfs:label "TMEM229B" ; IAO:0000142 PMID:31544253 ; - oboInOwl:hasDbXref UMLS:C1426714 ; oboInOwl:hasExactSynonym "TMEM229B", "transmembrane protein 229b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161145 ; - skos:exactMatch HGNC_symbol:TMEM229B ; + skos:exactMatch UMLS:C1426714, + HGNC:20130, + HGNC_symbol:TMEM229B ; biolink:category biolink:Gene . OMIM:619023 a owl:Class ; @@ -365849,13 +381749,14 @@ OMIM:619023 a owl:Class ; PMID:21768116, PMID:24751383, PMID:28860277 ; - oboInOwl:hasDbXref UMLS:C2678545 ; oboInOwl:hasExactSynonym "OSTC", "dc2", "oligosaccharyltransferase complex, noncatalytic subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58505 ; - skos:exactMatch HGNC_symbol:OSTC ; + skos:exactMatch UMLS:C2678545, + HGNC:24448, + HGNC_symbol:OSTC ; biolink:category biolink:Gene . OMIM:619029 a owl:Class ; @@ -365864,21 +381765,22 @@ OMIM:619029 a owl:Class ; PMID:21768116, PMID:23606741, PMID:28860277 ; - oboInOwl:hasDbXref UMLS:C1428752 ; oboInOwl:hasExactSynonym "KRTCAP2", "kcp2", "keratinocyte-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200185 ; - skos:exactMatch HGNC_symbol:KRTCAP2 ; + skos:exactMatch UMLS:C1428752, + HGNC:28942, + HGNC_symbol:KRTCAP2 ; biolink:category biolink:Gene . OMIM:619031 a owl:Class ; rdfs:label "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" ; IAO:0000142 PMID:30221345 ; - oboInOwl:hasDbXref UMLS:C5436646 ; oboInOwl:hasExactSynonym "IDDEBF", "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" ; + skos:exactMatch UMLS:C5436646 ; biolink:category biolink:Disease . OMIM:619032 a owl:Class ; @@ -365887,12 +381789,13 @@ OMIM:619032 a owl:Class ; PMID:26252542, PMID:28939891, PMID:29676583 ; - oboInOwl:hasDbXref UMLS:C1427360 ; oboInOwl:hasExactSynonym "RCN3", "reticulocalbin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57333 ; - skos:exactMatch HGNC_symbol:RCN3 ; + skos:exactMatch UMLS:C1427360, + HGNC:21145, + HGNC_symbol:RCN3 ; biolink:category biolink:Gene . OMIM:619034 a owl:Class ; @@ -365900,50 +381803,54 @@ OMIM:619034 a owl:Class ; IAO:0000142 PMID:22683258, PMID:23295309, PMID:25064856 ; - oboInOwl:hasDbXref UMLS:C1538819 ; oboInOwl:hasExactSynonym "RBPMS2", "rna-binding protein for multiple splicing 2", "rna-binding protein, mrna-processing factor, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:348093 ; - skos:exactMatch HGNC_symbol:RBPMS2 ; + skos:exactMatch UMLS:C1538819, + HGNC:19098, + HGNC_symbol:RBPMS2 ; biolink:category biolink:Gene . OMIM:619035 a owl:Class ; rdfs:label "MIR29B2" ; IAO:0000142 PMID:17204650, PMID:22096249 ; - oboInOwl:hasDbXref UMLS:C1537734 ; oboInOwl:hasExactSynonym "MIR29B2", "micro RNA 29b2", "mirn29b2", "mirna29b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407025 ; - skos:exactMatch HGNC_symbol:MIR29B2 ; + skos:exactMatch UMLS:C1537734, + HGNC:31620, + HGNC_symbol:MIR29B2 ; biolink:category biolink:Gene . OMIM:619037 a owl:Class ; rdfs:label "LRRC34" ; IAO:0000142 PMID:24991885 ; - oboInOwl:hasDbXref UMLS:C1537609 ; oboInOwl:hasExactSynonym "LRRC34", "leucine-rich repeat-containing protein 34" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151827 ; - skos:exactMatch HGNC_symbol:LRRC34 ; + skos:exactMatch UMLS:C1537609, + HGNC:28408, + HGNC_symbol:LRRC34 ; biolink:category biolink:Gene . OMIM:619038 a owl:Class ; rdfs:label "SPOCD1" ; IAO:0000142 PMID:21382349, PMID:32674113 ; - oboInOwl:hasDbXref UMLS:C1539846 ; oboInOwl:hasExactSynonym "SPOCD1", "spoc domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90853 ; - skos:exactMatch HGNC_symbol:SPOCD1 ; + skos:exactMatch UMLS:C1539846, + HGNC:26338, + HGNC_symbol:SPOCD1 ; biolink:category biolink:Gene . OMIM:619039 a owl:Class ; @@ -365952,25 +381859,26 @@ OMIM:619039 a owl:Class ; PMID:16924111, PMID:20727851, PMID:2247056 ; - oboInOwl:hasDbXref UMLS:C1425179 ; oboInOwl:hasExactSynonym "REPIN1", "activator protein 4", "replication initiation region protein, 60-kd", "replication initiator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29803 ; - skos:exactMatch HGNC_symbol:REPIN1 ; + skos:exactMatch UMLS:C1425179, + HGNC:17922, + HGNC_symbol:REPIN1 ; biolink:category biolink:Gene . OMIM:619041 a owl:Class ; rdfs:label "monosomy 7 myelodysplasia and leukemia syndrome 2" ; IAO:0000142 PMID:2569483, PMID:28487541 ; - oboInOwl:hasDbXref UMLS:C5436668, - ORPHA:495930 ; oboInOwl:hasExactSynonym "M7MLS2", "monosomy 7 myelodysplasia and leukemia syndrome 2" ; rdfs:subClassOf OMIMPS:252270 ; + skos:exactMatch UMLS:C5436668, + ORPHA:495930 ; biolink:category biolink:Disease . OMIM:619043 a owl:Class ; @@ -365981,7 +381889,6 @@ OMIM:619043 a owl:Class ; PMID:24165122, PMID:26976604, PMID:28450399 ; - oboInOwl:hasDbXref UMLS:C1825614 ; oboInOwl:hasExactSynonym "IPPK", "inositol 1,3,4,5,6-pentakisphosphate 2-kinase", "inositol-pentakisphosphate 2-kinase", @@ -365990,119 +381897,130 @@ OMIM:619043 a owl:Class ; "ipk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64768 ; - skos:exactMatch HGNC_symbol:IPPK ; + skos:exactMatch UMLS:C1825614, + HGNC:14645, + HGNC_symbol:IPPK ; biolink:category biolink:Gene . OMIM:619045 a owl:Class ; rdfs:label "SERHL2" ; IAO:0000142 PMID:11352564 ; - oboInOwl:hasDbXref UMLS:C1539752 ; oboInOwl:hasExactSynonym "SERHL2", "serine hydrolase-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:253190 ; - skos:exactMatch HGNC_symbol:SERHL2 ; + skos:exactMatch UMLS:C1539752, + HGNC:29446, + HGNC_symbol:SERHL2 ; biolink:category biolink:Gene . OMIM:619047 a owl:Class ; rdfs:label "PPP1R32" ; IAO:0000142 PMID:28194645 ; - oboInOwl:hasDbXref UMLS:C3471436 ; oboInOwl:hasExactSynonym "PPP1R32", "chromosome 11 open reading frame 66", "iiig9", "protein phosphatase 1, regulatory subunit 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220004 ; - skos:exactMatch HGNC_symbol:PPP1R32 ; + skos:exactMatch UMLS:C3471436, + HGNC:28869, + HGNC_symbol:PPP1R32 ; biolink:category biolink:Gene . OMIM:619049 a owl:Class ; rdfs:label "TDRP" ; IAO:0000142 PMID:20170638 ; - oboInOwl:hasDbXref UMLS:C1824251 ; oboInOwl:hasExactSynonym "TDRP", "testis development-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:157695 ; - skos:exactMatch HGNC_symbol:TDRP ; + skos:exactMatch UMLS:C1824251, + HGNC:26951, + HGNC_symbol:TDRP ; biolink:category biolink:Gene . OMIM:619050 a owl:Class ; rdfs:label "HMGCLL1" ; IAO:0000142 PMID:22847177, PMID:22865860 ; - oboInOwl:hasDbXref UMLS:C1427507 ; oboInOwl:hasExactSynonym "3-hydroxy-3-methylglutaryl-coa lyase-like protein 1", "HMGCLL1", "endoplasmic reticulum-cytosolic hmg coa lyase", "hmgcl-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54511 ; - skos:exactMatch HGNC_symbol:HMGCLL1 ; + skos:exactMatch UMLS:C1427507, + HGNC:21359, + HGNC_symbol:HMGCLL1 ; biolink:category biolink:Gene . OMIM:619066 a owl:Class ; rdfs:label "ZNF532" ; IAO:0000142 PMID:32343678 ; - oboInOwl:hasDbXref UMLS:C1429015, - UMLS:C5436729 ; oboInOwl:hasExactSynonym "ZNF532", "circrna znf532", "circular RNA znf532", "zinc finger protein 532" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55205 ; - skos:exactMatch HGNC_symbol:ZNF532 ; + skos:exactMatch UMLS:C1429015, + UMLS:C5436729, + HGNC:30940, + HGNC_symbol:ZNF532 ; biolink:category biolink:Gene . OMIM:619067 a owl:Class ; rdfs:label "HSDL1" ; IAO:0000142 PMID:19026618 ; - oboInOwl:hasDbXref UMLS:C1537382 ; oboInOwl:hasExactSynonym "HSDL1", "hydroxysteroid dehydrogenase-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83693 ; - skos:exactMatch HGNC_symbol:HSDL1 ; + skos:exactMatch UMLS:C1537382, + HGNC:16475, + HGNC_symbol:HSDL1 ; biolink:category biolink:Gene . OMIM:619068 a owl:Class ; rdfs:label "LRRC19" ; IAO:0000142 PMID:19679103, PMID:26776522 ; - oboInOwl:hasDbXref UMLS:C1428058 ; oboInOwl:hasExactSynonym "LRRC19", "leucine-rich repeat-containing protein 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64922 ; - skos:exactMatch HGNC_symbol:LRRC19 ; + skos:exactMatch UMLS:C1428058, + HGNC:23379, + HGNC_symbol:LRRC19 ; biolink:category biolink:Gene . OMIM:619069 a owl:Class ; rdfs:label "TENT5B" ; IAO:0000142 PMID:30532005, PMID:32009146 ; - oboInOwl:hasDbXref UMLS:C1539444 ; oboInOwl:hasExactSynonym "TENT5B", "family with sequence similarity 46, member B", "terminal nucleotidyltransferase 5b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:115572 ; - skos:exactMatch HGNC_symbol:TENT5B ; + skos:exactMatch UMLS:C1539444, + HGNC:28273, + HGNC_symbol:TENT5B ; biolink:category biolink:Gene . OMIM:619070 a owl:Class ; rdfs:label "LETMD1" ; IAO:0000142 PMID:12879013, PMID:31980577 ; - oboInOwl:hasDbXref UMLS:C1537567 ; oboInOwl:hasExactSynonym "LETMD1", "human cervical cancer oncogene", "letm1 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25875 ; - skos:exactMatch HGNC_symbol:LETMD1 ; + skos:exactMatch UMLS:C1537567, + HGNC:24241, + HGNC_symbol:LETMD1 ; biolink:category biolink:Gene . OMIM:619077 a owl:Class ; @@ -366111,26 +382029,28 @@ OMIM:619077 a owl:Class ; PMID:16923965, PMID:23980576, PMID:30637842 ; - oboInOwl:hasDbXref UMLS:C1537386 ; oboInOwl:hasExactSynonym "HSPA4L", "apg1", "heat-shock protein family a (hsp70) member 4-like protein", "hspa4-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22824 ; - skos:exactMatch HGNC_symbol:HSPA4L ; + skos:exactMatch UMLS:C1537386, + HGNC:17041, + HGNC_symbol:HSPA4L ; biolink:category biolink:Gene . OMIM:619078 a owl:Class ; rdfs:label "KLHL11" ; IAO:0000142 PMID:23349464, PMID:23676014 ; - oboInOwl:hasDbXref UMLS:C1425947 ; oboInOwl:hasExactSynonym "KLHL11", "kelch-like family, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55175 ; - skos:exactMatch HGNC_symbol:KLHL11 ; + skos:exactMatch UMLS:C1425947, + HGNC:19008, + HGNC_symbol:KLHL11 ; biolink:category biolink:Gene . OMIM:619081 a owl:Class ; @@ -366138,37 +382058,37 @@ OMIM:619081 a owl:Class ; IAO:0000142 PMID:10369265, PMID:32294086, PMID:32658972 ; - oboInOwl:hasDbXref UMLS:C5436768, - ORPHA:90635 ; oboInOwl:hasExactSynonym "DFNA78", "deafness, autosomal dominant 78" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C5436768, + ORPHA:90635 ; biolink:category biolink:Disease . OMIM:619083 a owl:Class ; rdfs:label "delpire-mcneill syndrome" ; IAO:0000142 PMID:32658972 ; - oboInOwl:hasDbXref UMLS:C5436771, - ORPHA:528084 ; oboInOwl:hasExactSynonym "DELMNES", "delpire-mcneill syndrome" ; + skos:exactMatch UMLS:C5436771, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:619084 a owl:Class ; rdfs:label "TIGD3" ; IAO:0000142 PMID:22080934 ; - oboInOwl:hasDbXref UMLS:C1425454 ; oboInOwl:hasExactSynonym "TIGD3", "tigger transposable element-derived gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:220359 ; - skos:exactMatch HGNC_symbol:TIGD3 ; + skos:exactMatch UMLS:C1425454, + HGNC:18334, + HGNC_symbol:TIGD3 ; biolink:category biolink:Gene . OMIM:619085 a owl:Class ; rdfs:label "PRANCR" ; IAO:0000142 PMID:31804951 ; - oboInOwl:hasDbXref UMLS:C5240597 ; oboInOwl:hasExactSynonym "PRANCR", "lincrna 1481", "lncrna prancr", @@ -366177,41 +382097,45 @@ OMIM:619085 a owl:Class ; "progenitor renewal-associated noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101928062 ; - skos:exactMatch HGNC_symbol:PRANCR ; + skos:exactMatch UMLS:C5240597, + HGNC:51126, + HGNC_symbol:PRANCR ; biolink:category biolink:Gene . OMIM:619088 a owl:Class ; rdfs:label "NUGGC" ; IAO:0000142 PMID:19734146, PMID:22833677 ; - oboInOwl:hasDbXref UMLS:C2240287 ; oboInOwl:hasExactSynonym "NUGGC", "nuclear gtpase, germinal center-associated", "speckled-like pattern 1n germinal center" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389643 ; - skos:exactMatch HGNC_symbol:NUGGC ; + skos:exactMatch UMLS:C2240287, + HGNC:33550, + HGNC_symbol:NUGGC ; biolink:category biolink:Gene . OMIM:619089 a owl:Class ; rdfs:label "GIPC2" ; IAO:0000142 PMID:11836570, PMID:28472630 ; - oboInOwl:hasDbXref UMLS:C1825352 ; oboInOwl:hasExactSynonym "GIPC2", "gipc pdz domain-containing family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54810 ; - skos:exactMatch HGNC_symbol:GIPC2 ; + skos:exactMatch UMLS:C1825352, + HGNC:18177, + HGNC_symbol:GIPC2 ; biolink:category biolink:Gene . OMIM:619091 a owl:Class ; rdfs:label "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities" ; IAO:0000142 PMID:32738225, PMID:32788587 ; - oboInOwl:hasDbXref UMLS:C5436783 ; oboInOwl:hasExactSynonym "NEDMILG", "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities" ; + skos:exactMatch UMLS:C5436783 ; biolink:category biolink:Disease . OMIM:619096 a owl:Class ; @@ -366219,11 +382143,11 @@ OMIM:619096 a owl:Class ; IAO:0000142 PMID:11809679, PMID:12549480, PMID:16372347 ; - oboInOwl:hasDbXref UMLS:C5436806, - ORPHA:252202 ; oboInOwl:hasExactSynonym "MMRCS2", "mismatch repair cancer syndrome 2" ; rdfs:subClassOf OMIMPS:276300 ; + skos:exactMatch UMLS:C5436806, + ORPHA:252202 ; biolink:category biolink:Disease . OMIM:619097 a owl:Class ; @@ -366233,11 +382157,11 @@ OMIM:619097 a owl:Class ; PMID:16283678, PMID:17440981, PMID:17557300 ; - oboInOwl:hasDbXref UMLS:C5436807, - ORPHA:252202 ; oboInOwl:hasExactSynonym "MMRCS3", "mismatch repair cancer syndrome 3" ; rdfs:subClassOf OMIMPS:276300 ; + skos:exactMatch UMLS:C5436807, + ORPHA:252202 ; biolink:category biolink:Disease . OMIM:619098 a owl:Class ; @@ -366247,8 +382171,6 @@ OMIM:619098 a owl:Class ; PMID:32673564 ; RO:0002525 CHR:9606chr2p13.1 ; RO:0003303 OMIM:619108 ; - oboInOwl:hasDbXref UMLS:C2240259, - UMLS:C5436823 ; oboInOwl:hasExactSynonym "M1AP", "chromosome 2 open reading frame 65", "meiosis 1-arresting protein", @@ -366256,35 +382178,39 @@ OMIM:619098 a owl:Class ; "spermatogenesis-associated protein 37" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130951 ; - skos:exactMatch HGNC_symbol:M1AP ; + skos:exactMatch UMLS:C2240259, + UMLS:C5436823, + HGNC:25183, + HGNC_symbol:M1AP ; biolink:category biolink:Gene . OMIM:619100 a owl:Class ; rdfs:label "CCDC25" ; IAO:0000142 PMID:32528174 ; - oboInOwl:hasDbXref UMLS:C1824550 ; oboInOwl:hasExactSynonym "CCDC25", "coiled-coil domain-containing protein 25" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55246 ; - skos:exactMatch HGNC_symbol:CCDC25 ; + skos:exactMatch UMLS:C1824550, + HGNC:25591, + HGNC_symbol:CCDC25 ; biolink:category biolink:Gene . OMIM:619104 a owl:Class ; rdfs:label "RBM47" ; IAO:0000142 PMID:32859727 ; - oboInOwl:hasDbXref UMLS:C2239875 ; oboInOwl:hasExactSynonym "RBM47", "rna-binding motif protein 47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54502 ; - skos:exactMatch HGNC_symbol:RBM47 ; + skos:exactMatch UMLS:C2239875, + HGNC:30358, + HGNC_symbol:RBM47 ; biolink:category biolink:Gene . OMIM:619105 a owl:Class ; rdfs:label "MIR30E" ; IAO:0000142 PMID:22156201 ; - oboInOwl:hasDbXref UMLS:C1537741 ; oboInOwl:hasExactSynonym "MIR30E", "micro RNA 30e", "micro RNA 30e*", @@ -366294,20 +382220,23 @@ OMIM:619105 a owl:Class ; "mirna30e*" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407034 ; - skos:exactMatch HGNC_symbol:MIR30E ; + skos:exactMatch UMLS:C1537741, + HGNC:31629, + HGNC_symbol:MIR30E ; biolink:category biolink:Gene . OMIM:619106 a owl:Class ; rdfs:label "PRRT3AS1" ; IAO:0000142 PMID:32086850 ; - oboInOwl:hasDbXref UMLS:C5436822 ; oboInOwl:hasExactSynonym "PRRT3AS1", "lncrna prrt3as1", "long noncoding RNA prrt3as1", "prrt3 antisense RNA 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100874032 ; - skos:exactMatch HGNC_symbol:PRRT3-AS1 ; + skos:exactMatch UMLS:C5436822, + HGNC:41151, + HGNC_symbol:PRRT3-AS1 ; biolink:category biolink:Gene . OMIM:619107 a owl:Class ; @@ -366317,12 +382246,13 @@ OMIM:619107 a owl:Class ; PMID:18419754, PMID:20964629, PMID:22718350 ; - oboInOwl:hasDbXref UMLS:C1822710 ; oboInOwl:hasExactSynonym "SNX33", "sorting nexin 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257364 ; - skos:exactMatch HGNC_symbol:SNX33 ; + skos:exactMatch UMLS:C1822710, + HGNC:28468, + HGNC_symbol:SNX33 ; biolink:category biolink:Gene . OMIM:619109 a owl:Class ; @@ -366334,14 +382264,15 @@ OMIM:619109 a owl:Class ; PMID:33103737 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:619125 ; - oboInOwl:hasDbXref UMLS:C1538126, - UMLS:C5436856 ; oboInOwl:hasExactSynonym "YIF1B", "yip1-interacting factor homolog b, membrane-trafficking protein", "yip1-interacting factor, s. cerevisiae, homolog of, B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90522 ; - skos:exactMatch HGNC_symbol:YIF1B ; + skos:exactMatch UMLS:C1538126, + UMLS:C5436856, + HGNC:30511, + HGNC_symbol:YIF1B ; biolink:category biolink:Gene . OMIM:619111 a owl:Class ; @@ -366349,10 +382280,10 @@ OMIM:619111 a owl:Class ; IAO:0000142 PMID:18950740, PMID:19574260, PMID:2929661 ; - oboInOwl:hasDbXref UMLS:C5436837, - ORPHA:1454 ; oboInOwl:hasExactSynonym "COACH2", "coach syndrome 2" ; + skos:exactMatch UMLS:C5436837, + ORPHA:1454 ; biolink:category biolink:Disease . OMIM:619112 a owl:Class ; @@ -366366,22 +382297,22 @@ OMIM:619112 a owl:Class ; PMID:19396477, PMID:20806400, PMID:23142943 ; - oboInOwl:hasDbXref UMLS:C5436838, - ORPHA:139536 ; oboInOwl:hasExactSynonym "HMN5C", "dhmn5c", "neuronopathy, distal hereditary motor, iia 5c", "spinal muscular atrophy, distal, iia 5c" ; + skos:exactMatch UMLS:C5436838, + ORPHA:139536 ; biolink:category biolink:Disease . OMIM:619113 a owl:Class ; rdfs:label "coach syndrome 3" ; IAO:0000142 PMID:19574260, PMID:2929661 ; - oboInOwl:hasDbXref UMLS:C5436841, - ORPHA:1454 ; oboInOwl:hasExactSynonym "COACH3", "coach syndrome 3" ; + skos:exactMatch UMLS:C5436841, + ORPHA:1454 ; biolink:category biolink:Disease . OMIM:619114 a owl:Class ; @@ -366389,12 +382320,13 @@ OMIM:619114 a owl:Class ; IAO:0000142 PMID:27377701, PMID:28951459, PMID:8754834 ; - oboInOwl:hasDbXref UMLS:C1424131 ; oboInOwl:hasExactSynonym "SMYD5", "set and mynd domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10322 ; - skos:exactMatch HGNC_symbol:SMYD5 ; + skos:exactMatch UMLS:C1424131, + HGNC:16258, + HGNC_symbol:SMYD5 ; biolink:category biolink:Gene . OMIM:619115 a owl:Class ; @@ -366404,11 +382336,11 @@ OMIM:619115 a owl:Class ; PMID:23692737, PMID:24443344, PMID:28261977 ; - oboInOwl:hasDbXref UMLS:C5436842 ; oboInOwl:hasExactSynonym "OIEDS1", "combined osteogenesis imperfecta and ehlers-danlos syndrome 1", "oieds syndrome 1" ; rdfs:subClassOf OMIMPS:619115 ; + skos:exactMatch UMLS:C5436842 ; biolink:category biolink:Disease . OMIM:619116 a owl:Class ; @@ -366417,25 +382349,27 @@ OMIM:619116 a owl:Class ; PMID:25014355, PMID:28219737, PMID:32973303 ; - oboInOwl:hasDbXref UMLS:C1426756 ; oboInOwl:hasExactSynonym "SLC39A9", "solute carrier family 39 (zinc transporter), member 9", "zrt- and irt-like protein 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55334 ; - skos:exactMatch HGNC_symbol:SLC39A9 ; + skos:exactMatch UMLS:C1426756, + HGNC:20182, + HGNC_symbol:SLC39A9 ; biolink:category biolink:Gene . OMIM:619117 a owl:Class ; rdfs:label "ARL16" ; IAO:0000142 PMID:21233210 ; - oboInOwl:hasDbXref UMLS:C1824216 ; oboInOwl:hasExactSynonym "ARL16", "adp-ribosylation factor-like gtpase 16", "arf-like gtpase 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339231 ; - skos:exactMatch HGNC_symbol:ARL16 ; + skos:exactMatch UMLS:C1824216, + HGNC:27902, + HGNC_symbol:ARL16 ; biolink:category biolink:Gene . OMIM:619118 a owl:Class ; @@ -366443,24 +382377,26 @@ OMIM:619118 a owl:Class ; IAO:0000142 PMID:15381061, PMID:22207337, PMID:32905774 ; - oboInOwl:hasDbXref UMLS:C1540214 ; oboInOwl:hasExactSynonym "ATP13A1", "atpase 13a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57130 ; - skos:exactMatch HGNC_symbol:ATP13A1 ; + skos:exactMatch UMLS:C1540214, + HGNC:24215, + HGNC_symbol:ATP13A1 ; biolink:category biolink:Gene . OMIM:619119 a owl:Class ; rdfs:label "ATP13A5" ; IAO:0000142 PMID:15381061, PMID:22207337 ; - oboInOwl:hasDbXref UMLS:C1540218 ; oboInOwl:hasExactSynonym "ATP13A5", "atpase 13a5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:344905 ; - skos:exactMatch HGNC_symbol:ATP13A5 ; + skos:exactMatch UMLS:C1540218, + HGNC:31789, + HGNC_symbol:ATP13A5 ; biolink:category biolink:Gene . OMIM:619120 a owl:Class ; @@ -366468,32 +382404,33 @@ OMIM:619120 a owl:Class ; IAO:0000142 PMID:10982177, PMID:11288717, PMID:23692737 ; - oboInOwl:hasDbXref UMLS:C5436847 ; oboInOwl:hasExactSynonym "OIEDS2", "combined osteogenesis imperfecta and ehlers-danlos syndrome 2", "oieds syndrome 2" ; rdfs:subClassOf OMIMPS:619115 ; + skos:exactMatch UMLS:C5436847 ; biolink:category biolink:Disease . OMIM:619126 a owl:Class ; rdfs:label "immunodeficiency 75" ; IAO:0000142 PMID:21803851, PMID:32518946 ; - oboInOwl:hasDbXref UMLS:C5436860 ; oboInOwl:hasExactSynonym "IMD75", "immunodeficiency 75" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5436860 ; biolink:category biolink:Disease . OMIM:619128 a owl:Class ; rdfs:label "HYI" ; IAO:0000142 PMID:10561547 ; - oboInOwl:hasDbXref UMLS:C1825556 ; oboInOwl:hasExactSynonym "HYI", "hydroxypyruvate isomerase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81888 ; - skos:exactMatch HGNC_symbol:HYI ; + skos:exactMatch UMLS:C1825556, + HGNC:26948, + HGNC_symbol:HYI ; biolink:category biolink:Gene . OMIM:619129 a owl:Class ; @@ -366501,13 +382438,14 @@ OMIM:619129 a owl:Class ; IAO:0000142 PMID:32791035 ; RO:0002525 CHR:9606chr10q25.1 ; RO:0003303 OMIM:619144 ; - oboInOwl:hasDbXref UMLS:C1428618, - UMLS:C5436887 ; oboInOwl:hasExactSynonym "CFAP58", "cilia- and flagella-associated protein 58" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:159686 ; - skos:exactMatch HGNC_symbol:CFAP58 ; + skos:exactMatch UMLS:C1428618, + UMLS:C5436887, + HGNC:26676, + HGNC_symbol:CFAP58 ; biolink:category biolink:Gene . OMIM:619132 a owl:Class ; @@ -366533,38 +382471,41 @@ OMIM:619134 a owl:Class ; rdfs:label "SMYD4" ; IAO:0000142 PMID:16805913, PMID:18714374 ; - oboInOwl:hasDbXref UMLS:C1427288 ; oboInOwl:hasExactSynonym "SMYD4", "set and mynd domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114826 ; - skos:exactMatch HGNC_symbol:SMYD4 ; + skos:exactMatch UMLS:C1427288, + HGNC:21067, + HGNC_symbol:SMYD4 ; biolink:category biolink:Gene . OMIM:619136 a owl:Class ; rdfs:label "SLC37A2" ; IAO:0000142 PMID:12811562, PMID:21949678 ; - oboInOwl:hasDbXref UMLS:C1427053 ; oboInOwl:hasExactSynonym "SLC37A2", "solute carrier family 37 (glucose-6-phosphate transporter), member a2", "spx2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219855 ; - skos:exactMatch HGNC_symbol:SLC37A2 ; + skos:exactMatch UMLS:C1427053, + HGNC:20644, + HGNC_symbol:SLC37A2 ; biolink:category biolink:Gene . OMIM:619137 a owl:Class ; rdfs:label "SLC37A3" ; IAO:0000142 PMID:12811562, PMID:29745899 ; - oboInOwl:hasDbXref UMLS:C1427059 ; oboInOwl:hasExactSynonym "SLC37A3", "solute carrier family 37, member a3", "spx3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84255 ; - skos:exactMatch HGNC_symbol:SLC37A3 ; + skos:exactMatch UMLS:C1427059, + HGNC:20651, + HGNC_symbol:SLC37A3 ; biolink:category biolink:Gene . OMIM:619138 a owl:Class ; @@ -366572,55 +382513,58 @@ OMIM:619138 a owl:Class ; IAO:0000142 PMID:11717310, PMID:31133753, PMID:32971525 ; - oboInOwl:hasDbXref UMLS:C2239766 ; oboInOwl:hasExactSynonym "N4BP1", "kiaa0615", "nedd4-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9683 ; - skos:exactMatch HGNC_symbol:N4BP1 ; + skos:exactMatch UMLS:C2239766, + HGNC:29850, + HGNC_symbol:N4BP1 ; biolink:category biolink:Gene . OMIM:619139 a owl:Class ; rdfs:label "N4BP2" ; IAO:0000142 PMID:11717310 ; - oboInOwl:hasDbXref UMLS:C2239767 ; oboInOwl:hasExactSynonym "N4BP2", "kiaa1413", "nedd4-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55728 ; - skos:exactMatch HGNC_symbol:N4BP2 ; + skos:exactMatch UMLS:C2239767, + HGNC:29851, + HGNC_symbol:N4BP2 ; biolink:category biolink:Gene . OMIM:619140 a owl:Class ; rdfs:label "N4BP3" ; IAO:0000142 PMID:11717310 ; - oboInOwl:hasDbXref UMLS:C3148457 ; oboInOwl:hasExactSynonym "N4BP3", "kiaa0341", "nedd4-binding protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23138 ; - skos:exactMatch HGNC_symbol:N4BP3 ; + skos:exactMatch UMLS:C3148457, + HGNC:29852, + HGNC_symbol:N4BP3 ; biolink:category biolink:Gene . OMIM:619142 a owl:Class ; rdfs:label "cardioacrofacial dysplasia 1" ; IAO:0000142 PMID:33058759 ; - oboInOwl:hasDbXref UMLS:C5436885 ; oboInOwl:hasExactSynonym "CAFD1", "cardioacrofacial dysplasia 1" ; rdfs:subClassOf OMIMPS:619142 ; + skos:exactMatch UMLS:C5436885 ; biolink:category biolink:Disease . OMIM:619146 a owl:Class ; rdfs:label "premature ovarian failure 17" ; IAO:0000142 PMID:30489636 ; - oboInOwl:hasDbXref UMLS:C5436889 ; oboInOwl:hasExactSynonym "POF17", "premature ovarian failure 17" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C5436889 ; biolink:category biolink:Disease . OMIM:619148 a owl:Class ; @@ -366644,7 +382588,8 @@ OMIM:619152 a owl:Class ; "tbc1 domain family, member 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23102 ; - skos:exactMatch HGNC_symbol:TBC1D2B ; + skos:exactMatch HGNC:29183, + HGNC_symbol:TBC1D2B ; biolink:category biolink:Gene . OMIM:619153 a owl:Class ; @@ -366656,7 +382601,8 @@ OMIM:619153 a owl:Class ; "solute carrier family 25 (mitochondrial carrier, nad+ transporter), member 51" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92014 ; - skos:exactMatch HGNC_symbol:SLC25A51 ; + skos:exactMatch HGNC:23323, + HGNC_symbol:SLC25A51 ; biolink:category biolink:Gene . OMIM:619154 a owl:Class ; @@ -366667,7 +382613,8 @@ OMIM:619154 a owl:Class ; "leucine-rich repeat-containing protein 47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57470 ; - skos:exactMatch HGNC_symbol:LRRC47 ; + skos:exactMatch HGNC:29207, + HGNC_symbol:LRRC47 ; biolink:category biolink:Gene . OMIM:619156 a owl:Class ; @@ -366679,7 +382626,8 @@ OMIM:619156 a owl:Class ; "wd repeat-containing protein 78" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79819 ; - skos:exactMatch HGNC_symbol:DNAI4 ; + skos:exactMatch HGNC:26252, + HGNC_symbol:DNAI4 ; biolink:category biolink:Gene . OMIM:619158 a owl:Class ; @@ -366691,7 +382639,8 @@ OMIM:619158 a owl:Class ; "pi3k-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:113791 ; - skos:exactMatch HGNC_symbol:PIK3IP1 ; + skos:exactMatch HGNC:24942, + HGNC_symbol:PIK3IP1 ; biolink:category biolink:Gene . OMIM:619159 a owl:Class ; @@ -366702,7 +382651,8 @@ OMIM:619159 a owl:Class ; "cea cell adhesion molecule 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1089 ; - skos:exactMatch HGNC_symbol:CEACAM4 ; + skos:exactMatch HGNC:1816, + HGNC_symbol:CEACAM4 ; biolink:category biolink:Gene . OMIM:619160 a owl:Class ; @@ -366717,7 +382667,8 @@ OMIM:619160 a owl:Class ; "cea cell adhesion molecule 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1087 ; - skos:exactMatch HGNC_symbol:CEACAM7 ; + skos:exactMatch HGNC:1819, + HGNC_symbol:CEACAM7 ; biolink:category biolink:Gene . OMIM:619161 a owl:Class ; @@ -366737,7 +382688,8 @@ OMIM:619162 a owl:Class ; "forkhead homologous 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55810 ; - skos:exactMatch HGNC_symbol:FOXJ2 ; + skos:exactMatch HGNC:24818, + HGNC_symbol:FOXJ2 ; biolink:category biolink:Gene . OMIM:619163 a owl:Class ; @@ -366750,7 +382702,8 @@ OMIM:619163 a owl:Class ; "ring finger protein 130" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55819 ; - skos:exactMatch HGNC_symbol:RNF130 ; + skos:exactMatch HGNC:18280, + HGNC_symbol:RNF130 ; biolink:category biolink:Gene . OMIM:619167 a owl:Class ; @@ -366770,7 +382723,8 @@ OMIM:619168 a owl:Class ; "transmembrane protein 109" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79073 ; - skos:exactMatch HGNC_symbol:TMEM109 ; + skos:exactMatch HGNC:28771, + HGNC_symbol:TMEM109 ; biolink:category biolink:Gene . OMIM:619169 a owl:Class ; @@ -366781,7 +382735,8 @@ OMIM:619169 a owl:Class ; "gtp-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23560 ; - skos:exactMatch HGNC_symbol:GTPBP4 ; + skos:exactMatch HGNC:21535, + HGNC_symbol:GTPBP4 ; biolink:category biolink:Gene . OMIM:619171 a owl:Class ; @@ -366791,7 +382746,8 @@ OMIM:619171 a owl:Class ; "guanylyl cyclase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83606 ; - skos:exactMatch HGNC_symbol:GUCD1 ; + skos:exactMatch HGNC:14237, + HGNC_symbol:GUCD1 ; biolink:category biolink:Gene . OMIM:619180 a owl:Class ; @@ -366812,7 +382768,8 @@ OMIM:619181 a owl:Class ; "family with sequence similarity 177, member a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:283635 ; - skos:exactMatch HGNC_symbol:FAM177A1 ; + skos:exactMatch HGNC:19829, + HGNC_symbol:FAM177A1 ; biolink:category biolink:Gene . OMIM:619186 a owl:Class ; @@ -366823,7 +382780,8 @@ OMIM:619186 a owl:Class ; "pleckstrin homology domain-containing protein, family m, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389072 ; - skos:exactMatch HGNC_symbol:PLEKHM3 ; + skos:exactMatch HGNC:34006, + HGNC_symbol:PLEKHM3 ; biolink:category biolink:Gene . OMIM:619187 a owl:Class ; @@ -366834,7 +382792,8 @@ OMIM:619187 a owl:Class ; "galectin-related interfiber protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402635 ; - skos:exactMatch HGNC_symbol:GRIFIN ; + skos:exactMatch HGNC:4577, + HGNC_symbol:GRIFIN ; biolink:category biolink:Gene . OMIM:619190 a owl:Class ; @@ -366845,7 +382804,8 @@ OMIM:619190 a owl:Class ; "interactor of hormad1 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339834 ; - skos:exactMatch HGNC_symbol:IHO1 ; + skos:exactMatch HGNC:27945, + HGNC_symbol:IHO1 ; biolink:category biolink:Gene . OMIM:619192 a owl:Class ; @@ -366862,7 +382822,8 @@ OMIM:619192 a owl:Class ; "solute carrier family 7, member 6 opposite strand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84138 ; - skos:exactMatch HGNC_symbol:SLC7A6OS ; + skos:exactMatch HGNC:25807, + HGNC_symbol:SLC7A6OS ; biolink:category biolink:Gene . OMIM:619193 a owl:Class ; @@ -366875,7 +382836,8 @@ OMIM:619193 a owl:Class ; "tubulin tyrosine ligase-like family, member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:164714 ; - skos:exactMatch HGNC_symbol:TTLL8 ; + skos:exactMatch HGNC:34000, + HGNC_symbol:TTLL8 ; biolink:category biolink:Gene . OMIM:619195 a owl:Class ; @@ -366891,7 +382853,8 @@ OMIM:619195 a owl:Class ; "tubulin tyrosine ligase-like family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26140 ; - skos:exactMatch HGNC_symbol:TTLL3 ; + skos:exactMatch HGNC:24483, + HGNC_symbol:TTLL3 ; biolink:category biolink:Gene . OMIM:619196 a owl:Class ; @@ -366913,7 +382876,8 @@ OMIM:619197 a owl:Class ; "hspc021" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51386 ; - skos:exactMatch HGNC_symbol:EIF3L ; + skos:exactMatch HGNC:18138, + HGNC_symbol:EIF3L ; biolink:category biolink:Gene . OMIM:619198 a owl:Class ; @@ -366925,7 +382889,8 @@ OMIM:619198 a owl:Class ; "succinate dehydrogenase complex assembly factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:135154 ; - skos:exactMatch HGNC_symbol:SDHAF4 ; + skos:exactMatch HGNC:20957, + HGNC_symbol:SDHAF4 ; biolink:category biolink:Gene . OMIM:619199 a owl:Class ; @@ -366945,7 +382910,8 @@ OMIM:619200 a owl:Class ; "sorting nexin, liver" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90203 ; - skos:exactMatch HGNC_symbol:SNX21 ; + skos:exactMatch HGNC:16154, + HGNC_symbol:SNX21 ; biolink:category biolink:Gene . OMIM:619203 a owl:Class ; @@ -366966,7 +382932,8 @@ OMIM:619204 a owl:Class ; "nucleolar pre-rrna-processing protein nip7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51388 ; - skos:exactMatch HGNC_symbol:NIP7 ; + skos:exactMatch HGNC:24328, + HGNC_symbol:NIP7 ; biolink:category biolink:Gene . OMIM:619205 a owl:Class ; @@ -366980,7 +382947,8 @@ OMIM:619205 a owl:Class ; "transmembrane bax inhibitor motif-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27069 ; - skos:exactMatch HGNC_symbol:GHITM ; + skos:exactMatch HGNC:17281, + HGNC_symbol:GHITM ; biolink:category biolink:Gene . OMIM:619206 a owl:Class ; @@ -366995,7 +382963,8 @@ OMIM:619206 a owl:Class ; "schwannomin-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29970 ; - skos:exactMatch HGNC_symbol:SCHIP1 ; + skos:exactMatch HGNC:15678, + HGNC_symbol:SCHIP1 ; biolink:category biolink:Gene . OMIM:619207 a owl:Class ; @@ -367005,7 +382974,8 @@ OMIM:619207 a owl:Class ; "ino80 complex, subunit d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54891 ; - skos:exactMatch HGNC_symbol:INO80D ; + skos:exactMatch HGNC:25997, + HGNC_symbol:INO80D ; biolink:category biolink:Gene . OMIM:619209 a owl:Class ; @@ -367027,7 +382997,8 @@ OMIM:619210 a owl:Class ; "heparan sulfate-glucosamine 3-sulfotransferase 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64711 ; - skos:exactMatch HGNC_symbol:HS3ST6 ; + skos:exactMatch HGNC:14178, + HGNC_symbol:HS3ST6 ; biolink:category biolink:Gene . OMIM:619211 a owl:Class ; @@ -367039,7 +383010,8 @@ OMIM:619211 a owl:Class ; "hlp4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51440 ; - skos:exactMatch HGNC_symbol:HPCAL4 ; + skos:exactMatch HGNC:18212, + HGNC_symbol:HPCAL4 ; biolink:category biolink:Gene . OMIM:619212 a owl:Class ; @@ -367053,7 +383025,8 @@ OMIM:619212 a owl:Class ; "long noncoding RNA irain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:104472848 ; - skos:exactMatch HGNC_symbol:IRAIN ; + skos:exactMatch HGNC:50365, + HGNC_symbol:IRAIN ; biolink:category biolink:Gene . OMIM:619213 a owl:Class ; @@ -367065,7 +383038,8 @@ OMIM:619213 a owl:Class ; "zinc finger swim domain-containing protein 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23053 ; - skos:exactMatch HGNC_symbol:ZSWIM8 ; + skos:exactMatch HGNC:23528, + HGNC_symbol:ZSWIM8 ; biolink:category biolink:Gene . OMIM:619214 a owl:Class ; @@ -367079,7 +383053,8 @@ OMIM:619214 a owl:Class ; "zinc finger protein 639" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51193 ; - skos:exactMatch HGNC_symbol:ZNF639 ; + skos:exactMatch HGNC:30950, + HGNC_symbol:ZNF639 ; biolink:category biolink:Gene . OMIM:619217 a owl:Class ; @@ -367100,7 +383075,8 @@ OMIM:619219 a owl:Class ; "chromosome 2 open reading frame 69" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:205327 ; - skos:exactMatch HGNC_symbol:C2orf69 ; + skos:exactMatch HGNC:26799, + HGNC_symbol:C2orf69 ; biolink:category biolink:Gene . OMIM:619222 a owl:Class ; @@ -367114,7 +383090,8 @@ OMIM:619222 a owl:Class ; "suppressor of cancer cell invasion" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286205 ; - skos:exactMatch HGNC_symbol:SCAI ; + skos:exactMatch HGNC:26709, + HGNC_symbol:SCAI ; biolink:category biolink:Gene . OMIM:619224 a owl:Class ; @@ -367130,7 +383107,8 @@ OMIM:619225 a owl:Class ; "ribosomal protein l13a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23521 ; - skos:exactMatch HGNC_symbol:RPL13A ; + skos:exactMatch HGNC:10304, + HGNC_symbol:RPL13A ; biolink:category biolink:Gene . OMIM:619228 a owl:Class ; @@ -367145,7 +383123,8 @@ OMIM:619230 a owl:Class ; "sin3a-associated protein, 25-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100316904 ; - skos:exactMatch HGNC_symbol:SAP25 ; + skos:exactMatch HGNC:41908, + HGNC_symbol:SAP25 ; biolink:category biolink:Gene . OMIM:619231 a owl:Class ; @@ -367155,7 +383134,8 @@ OMIM:619231 a owl:Class ; "sterile alpha motif domain-containing protein 4b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55095 ; - skos:exactMatch HGNC_symbol:SAMD4B ; + skos:exactMatch HGNC:25492, + HGNC_symbol:SAMD4B ; biolink:category biolink:Gene . OMIM:619233 a owl:Class ; @@ -367165,7 +383145,8 @@ OMIM:619233 a owl:Class ; "sterile alpha motif domain-containing protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201191 ; - skos:exactMatch HGNC_symbol:SAMD14 ; + skos:exactMatch HGNC:27312, + HGNC_symbol:SAMD14 ; biolink:category biolink:Gene . OMIM:619235 a owl:Class ; @@ -367175,7 +383156,8 @@ OMIM:619235 a owl:Class ; "ribonuclease p/mrp, 25-kd subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54913 ; - skos:exactMatch HGNC_symbol:RPP25 ; + skos:exactMatch HGNC:30361, + HGNC_symbol:RPP25 ; biolink:category biolink:Gene . OMIM:619236 a owl:Class ; @@ -367184,7 +383166,8 @@ OMIM:619236 a owl:Class ; "kiaa0408 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9729 ; - skos:exactMatch HGNC_symbol:KIAA0408 ; + skos:exactMatch HGNC:21636, + HGNC_symbol:KIAA0408 ; biolink:category biolink:Gene . OMIM:619237 a owl:Class ; @@ -367193,7 +383176,8 @@ OMIM:619237 a owl:Class ; "kiaa0232 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9778 ; - skos:exactMatch HGNC_symbol:KIAA0232 ; + skos:exactMatch HGNC:28992, + HGNC_symbol:KIAA0232 ; biolink:category biolink:Gene . OMIM:619238 a owl:Class ; @@ -367216,7 +383200,8 @@ OMIM:619240 a owl:Class ; "gdp-d-glucose phosphorylase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:390637 ; - skos:exactMatch HGNC_symbol:GDPGP1 ; + skos:exactMatch HGNC:34360, + HGNC_symbol:GDPGP1 ; biolink:category biolink:Gene . OMIM:619241 a owl:Class ; @@ -367228,7 +383213,8 @@ OMIM:619241 a owl:Class ; "jupiter, drosophila, homolog of, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90861 ; - skos:exactMatch HGNC_symbol:JPT2 ; + skos:exactMatch HGNC:14137, + HGNC_symbol:JPT2 ; biolink:category biolink:Gene . OMIM:619242 a owl:Class ; @@ -367239,7 +383225,8 @@ OMIM:619242 a owl:Class ; "jupiter, drosophila, homolog of, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51155 ; - skos:exactMatch HGNC_symbol:JPT1 ; + skos:exactMatch HGNC:14569, + HGNC_symbol:JPT1 ; biolink:category biolink:Gene . OMIM:619246 a owl:Class ; @@ -367249,7 +383236,8 @@ OMIM:619246 a owl:Class ; "spexin hormone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80763 ; - skos:exactMatch HGNC_symbol:SPX ; + skos:exactMatch HGNC:28139, + HGNC_symbol:SPX ; biolink:category biolink:Gene . OMIM:619247 a owl:Class ; @@ -367259,7 +383247,8 @@ OMIM:619247 a owl:Class ; "spindle- and kinetochore-associated complex, subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:221150 ; - skos:exactMatch HGNC_symbol:SKA3 ; + skos:exactMatch HGNC:20262, + HGNC_symbol:SKA3 ; biolink:category biolink:Gene . OMIM:619248 a owl:Class ; @@ -367276,7 +383265,8 @@ OMIM:619249 a owl:Class ; "conserved coiled-coil protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55088 ; - skos:exactMatch HGNC_symbol:CCDC186 ; + skos:exactMatch HGNC:24349, + HGNC_symbol:CCDC186 ; biolink:category biolink:Gene . OMIM:619250 a owl:Class ; @@ -367286,7 +383276,8 @@ OMIM:619250 a owl:Class ; "rund1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146923 ; - skos:exactMatch HGNC_symbol:RUNDC1 ; + skos:exactMatch HGNC:25418, + HGNC_symbol:RUNDC1 ; biolink:category biolink:Gene . OMIM:619251 a owl:Class ; @@ -367297,7 +383288,8 @@ OMIM:619251 a owl:Class ; "actin-like 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284382 ; - skos:exactMatch HGNC_symbol:ACTL9 ; + skos:exactMatch HGNC:28494, + HGNC_symbol:ACTL9 ; biolink:category biolink:Gene . OMIM:619252 a owl:Class ; @@ -367308,7 +383300,8 @@ OMIM:619252 a owl:Class ; "kiaa0005" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9689 ; - skos:exactMatch HGNC_symbol:BZW1 ; + skos:exactMatch HGNC:18380, + HGNC_symbol:BZW1 ; biolink:category biolink:Gene . OMIM:619253 a owl:Class ; @@ -367318,7 +383311,8 @@ OMIM:619253 a owl:Class ; "wsc domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9671 ; - skos:exactMatch HGNC_symbol:WSCD2 ; + skos:exactMatch HGNC:29117, + HGNC_symbol:WSCD2 ; biolink:category biolink:Gene . OMIM:619254 a owl:Class ; @@ -367329,7 +383323,8 @@ OMIM:619254 a owl:Class ; "zinc finger protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7565 ; - skos:exactMatch HGNC_symbol:ZNF17 ; + skos:exactMatch HGNC:12958, + HGNC_symbol:ZNF17 ; biolink:category biolink:Gene . OMIM:619257 a owl:Class ; @@ -367341,7 +383336,8 @@ OMIM:619257 a owl:Class ; "u2hr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120766137 ; - skos:exactMatch HGNC_symbol:HRURF ; + skos:exactMatch HGNC:55085, + HGNC_symbol:HRURF ; biolink:category biolink:Gene . OMIM:619259 a owl:Class ; @@ -367357,7 +383353,8 @@ OMIM:619261 a owl:Class ; "keratinocyte-associated protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200634 ; - skos:exactMatch HGNC_symbol:KRTCAP3 ; + skos:exactMatch HGNC:28943, + HGNC_symbol:KRTCAP3 ; biolink:category biolink:Gene . OMIM:619262 a owl:Class ; @@ -367367,7 +383364,8 @@ OMIM:619262 a owl:Class ; "kelch-like 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:339451 ; - skos:exactMatch HGNC_symbol:KLHL17 ; + skos:exactMatch HGNC:24023, + HGNC_symbol:KLHL17 ; biolink:category biolink:Gene . OMIM:619265 a owl:Class ; @@ -367376,7 +383374,8 @@ OMIM:619265 a owl:Class ; "tripartite motif-containing protein 52" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84851 ; - skos:exactMatch HGNC_symbol:TRIM52 ; + skos:exactMatch HGNC:19024, + HGNC_symbol:TRIM52 ; biolink:category biolink:Gene . OMIM:619266 a owl:Class ; @@ -367387,7 +383386,8 @@ OMIM:619266 a owl:Class ; "trim52 antisense RNA 1, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100507602 ; - skos:exactMatch HGNC_symbol:TRIM52-AS1 ; + skos:exactMatch HGNC:49006, + HGNC_symbol:TRIM52-AS1 ; biolink:category biolink:Gene . OMIM:619267 a owl:Class ; @@ -367408,7 +383408,8 @@ OMIM:619270 a owl:Class ; "nwc" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:119710 ; - skos:exactMatch HGNC_symbol:IFTAP ; + skos:exactMatch HGNC:25142, + HGNC_symbol:IFTAP ; biolink:category biolink:Gene . OMIM:619271 a owl:Class ; @@ -367433,7 +383434,8 @@ OMIM:619275 a owl:Class ; "eif5 mimic protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:28969 ; - skos:exactMatch HGNC_symbol:BZW2 ; + skos:exactMatch HGNC:18808, + HGNC_symbol:BZW2 ; biolink:category biolink:Gene . OMIM:619276 a owl:Class ; @@ -367445,7 +383447,8 @@ OMIM:619276 a owl:Class ; "meiok21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79173 ; - skos:exactMatch HGNC_symbol:BRME1 ; + skos:exactMatch HGNC:28153, + HGNC_symbol:BRME1 ; biolink:category biolink:Gene . OMIM:619277 a owl:Class ; @@ -367455,7 +383458,8 @@ OMIM:619277 a owl:Class ; "lost 1n lung cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128602 ; - skos:exactMatch HGNC_symbol:C20orf85 ; + skos:exactMatch HGNC:16216, + HGNC_symbol:C20orf85 ; biolink:category biolink:Gene . OMIM:619280 a owl:Class ; @@ -367466,7 +383470,8 @@ OMIM:619280 a owl:Class ; "ttf1-associated protein, 26-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29080 ; - skos:exactMatch HGNC_symbol:CCDC59 ; + skos:exactMatch HGNC:25005, + HGNC_symbol:CCDC59 ; biolink:category biolink:Gene . OMIM:619282 a owl:Class ; @@ -367476,7 +383481,8 @@ OMIM:619282 a owl:Class ; "kiaa0773" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9715 ; - skos:exactMatch HGNC_symbol:FAM131B ; + skos:exactMatch HGNC:22202, + HGNC_symbol:FAM131B ; biolink:category biolink:Gene . OMIM:619283 a owl:Class ; @@ -367486,7 +383492,8 @@ OMIM:619283 a owl:Class ; "ring finger protein 44" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22838 ; - skos:exactMatch HGNC_symbol:RNF44 ; + skos:exactMatch HGNC:19180, + HGNC_symbol:RNF44 ; biolink:category biolink:Gene . OMIM:619284 a owl:Class ; @@ -367496,7 +383503,8 @@ OMIM:619284 a owl:Class ; "zinc finger rna-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23217 ; - skos:exactMatch HGNC_symbol:ZFR2 ; + skos:exactMatch HGNC:29189, + HGNC_symbol:ZFR2 ; biolink:category biolink:Gene . OMIM:619285 a owl:Class ; @@ -367507,7 +383515,8 @@ OMIM:619285 a owl:Class ; "transmembrane protein 218" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219854 ; - skos:exactMatch HGNC_symbol:TMEM218 ; + skos:exactMatch HGNC:27344, + HGNC_symbol:TMEM218 ; biolink:category biolink:Gene . OMIM:619287 a owl:Class ; @@ -367516,7 +383525,8 @@ OMIM:619287 a owl:Class ; "coiled-coil domain-containing protein 66" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285331 ; - skos:exactMatch HGNC_symbol:CCDC66 ; + skos:exactMatch HGNC:27709, + HGNC_symbol:CCDC66 ; biolink:category biolink:Gene . OMIM:619288 a owl:Class ; @@ -367525,7 +383535,8 @@ OMIM:619288 a owl:Class ; "coiled-coil domain-containing protein 69" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26112 ; - skos:exactMatch HGNC_symbol:CCDC69 ; + skos:exactMatch HGNC:24487, + HGNC_symbol:CCDC69 ; biolink:category biolink:Gene . OMIM:619289 a owl:Class ; @@ -367535,7 +383546,8 @@ OMIM:619289 a owl:Class ; "zinc finger protein 91, atypical e3 ubiquitin ligase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80829 ; - skos:exactMatch HGNC_symbol:ZFP91 ; + skos:exactMatch HGNC:14983, + HGNC_symbol:ZFP91 ; biolink:category biolink:Gene . OMIM:619292 a owl:Class ; @@ -367545,7 +383557,8 @@ OMIM:619292 a owl:Class ; "vps9 domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9605 ; - skos:exactMatch HGNC_symbol:VPS9D1 ; + skos:exactMatch HGNC:13526, + HGNC_symbol:VPS9D1 ; biolink:category biolink:Gene . OMIM:619293 a owl:Class ; @@ -367563,7 +383576,8 @@ OMIM:619294 a owl:Class ; "niban apoptosis regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116496 ; - skos:exactMatch HGNC_symbol:NIBAN1 ; + skos:exactMatch HGNC:16784, + HGNC_symbol:NIBAN1 ; biolink:category biolink:Gene . OMIM:619295 a owl:Class ; @@ -367572,7 +383586,8 @@ OMIM:619295 a owl:Class ; "zinc finger dhhc-type palmitoyltransferase 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79683 ; - skos:exactMatch HGNC_symbol:ZDHHC14 ; + skos:exactMatch HGNC:20341, + HGNC_symbol:ZDHHC14 ; biolink:category biolink:Gene . OMIM:619296 a owl:Class ; @@ -367583,7 +383598,8 @@ OMIM:619296 a owl:Class ; "testis-associated oncogenic long noncoding RNA" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100506797 ; - skos:exactMatch HGNC_symbol:THORLNC ; + skos:exactMatch HGNC:53788, + HGNC_symbol:THORLNC ; biolink:category biolink:Gene . OMIM:619298 a owl:Class ; @@ -367592,7 +383608,8 @@ OMIM:619298 a owl:Class ; "zinc finger protein 777" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27153 ; - skos:exactMatch HGNC_symbol:ZNF777 ; + skos:exactMatch HGNC:22213, + HGNC_symbol:ZNF777 ; biolink:category biolink:Gene . OMIM:619299 a owl:Class ; @@ -367602,7 +383619,8 @@ OMIM:619299 a owl:Class ; "zinc finger protein 646" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9726 ; - skos:exactMatch HGNC_symbol:ZNF646 ; + skos:exactMatch HGNC:29004, + HGNC_symbol:ZNF646 ; biolink:category biolink:Gene . OMIM:619300 a owl:Class ; @@ -367611,7 +383629,8 @@ OMIM:619300 a owl:Class ; "zinc finger protein 394" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84124 ; - skos:exactMatch HGNC_symbol:ZNF394 ; + skos:exactMatch HGNC:18832, + HGNC_symbol:ZNF394 ; biolink:category biolink:Gene . OMIM:619305 a owl:Class ; @@ -367621,7 +383640,8 @@ OMIM:619305 a owl:Class ; "tandem c2 protein 1n nucleus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:123036 ; - skos:exactMatch HGNC_symbol:TC2N ; + skos:exactMatch HGNC:19859, + HGNC_symbol:TC2N ; biolink:category biolink:Gene . OMIM:619307 a owl:Class ; @@ -367630,7 +383650,8 @@ OMIM:619307 a owl:Class ; "magnesium transporter mrs2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57380 ; - skos:exactMatch HGNC_symbol:MRS2 ; + skos:exactMatch HGNC:13785, + HGNC_symbol:MRS2 ; biolink:category biolink:Gene . OMIM:619308 a owl:Class ; @@ -367641,7 +383662,8 @@ OMIM:619308 a owl:Class ; "protein phosphatase, magnesium/manganese-dependent, 1e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22843 ; - skos:exactMatch HGNC_symbol:PPM1E ; + skos:exactMatch HGNC:19322, + HGNC_symbol:PPM1E ; biolink:category biolink:Gene . OMIM:619309 a owl:Class ; @@ -367652,7 +383674,8 @@ OMIM:619309 a owl:Class ; "protein phosphatase, magnesium/manganese-dependent, 1f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9647 ; - skos:exactMatch HGNC_symbol:PPM1F ; + skos:exactMatch HGNC:19388, + HGNC_symbol:PPM1F ; biolink:category biolink:Gene . OMIM:619315 a owl:Class ; @@ -367662,7 +383685,8 @@ OMIM:619315 a owl:Class ; "solute carrier family 35, member e2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:728661 ; - skos:exactMatch HGNC_symbol:SLC35E2B ; + skos:exactMatch HGNC:33941, + HGNC_symbol:SLC35E2B ; biolink:category biolink:Gene . OMIM:619316 a owl:Class ; @@ -367672,7 +383696,8 @@ OMIM:619316 a owl:Class ; "tetratricopeptide repeat- and ankyrin repeat-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9881 ; - skos:exactMatch HGNC_symbol:TRANK1 ; + skos:exactMatch HGNC:29011, + HGNC_symbol:TRANK1 ; biolink:category biolink:Gene . OMIM:619317 a owl:Class ; @@ -367689,7 +383714,8 @@ OMIM:619327 a owl:Class ; "leucine-rich repeat-containing protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:131578 ; - skos:exactMatch HGNC_symbol:LRRC15 ; + skos:exactMatch HGNC:20818, + HGNC_symbol:LRRC15 ; biolink:category biolink:Gene . OMIM:619330 a owl:Class ; @@ -367699,7 +383725,8 @@ OMIM:619330 a owl:Class ; "tatd dnase domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9797 ; - skos:exactMatch HGNC_symbol:TATDN2 ; + skos:exactMatch HGNC:28988, + HGNC_symbol:TATDN2 ; biolink:category biolink:Gene . OMIM:619331 a owl:Class ; @@ -367711,7 +383738,8 @@ OMIM:619331 a owl:Class ; "tldc domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57707 ; - skos:exactMatch HGNC_symbol:MEAK7 ; + skos:exactMatch HGNC:29325, + HGNC_symbol:MEAK7 ; biolink:category biolink:Gene . OMIM:619332 a owl:Class ; @@ -367723,7 +383751,8 @@ OMIM:619332 a owl:Class ; "transmembrane protein 251" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26175 ; - skos:exactMatch HGNC_symbol:TMEM251 ; + skos:exactMatch HGNC:20218, + HGNC_symbol:TMEM251 ; biolink:category biolink:Gene . OMIM:619334 a owl:Class ; @@ -367741,7 +383770,8 @@ OMIM:619335 a owl:Class ; "kiaa0355" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9710 ; - skos:exactMatch HGNC_symbol:GARRE1 ; + skos:exactMatch HGNC:29016, + HGNC_symbol:GARRE1 ; biolink:category biolink:Gene . OMIM:619336 a owl:Class ; @@ -367750,7 +383780,8 @@ OMIM:619336 a owl:Class ; "metaxin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:345778 ; - skos:exactMatch HGNC_symbol:MTX3 ; + skos:exactMatch HGNC:24812, + HGNC_symbol:MTX3 ; biolink:category biolink:Gene . OMIM:619337 a owl:Class ; @@ -367759,7 +383790,8 @@ OMIM:619337 a owl:Class ; "neuromedin s" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:129521 ; - skos:exactMatch HGNC_symbol:NMS ; + skos:exactMatch HGNC:32203, + HGNC_symbol:NMS ; biolink:category biolink:Gene . OMIM:619338 a owl:Class ; @@ -367776,7 +383808,8 @@ OMIM:619341 a owl:Class ; "praja2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9867 ; - skos:exactMatch HGNC_symbol:PJA2 ; + skos:exactMatch HGNC:17481, + HGNC_symbol:PJA2 ; biolink:category biolink:Gene . OMIM:619342 a owl:Class ; @@ -367786,7 +383819,8 @@ OMIM:619342 a owl:Class ; "transmembrane protein 8a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58986 ; - skos:exactMatch HGNC_symbol:PGAP6 ; + skos:exactMatch HGNC:17205, + HGNC_symbol:PGAP6 ; biolink:category biolink:Gene . OMIM:619343 a owl:Class ; @@ -367802,7 +383836,8 @@ OMIM:619344 a owl:Class ; "purkinje cell protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126006 ; - skos:exactMatch HGNC_symbol:PCP2 ; + skos:exactMatch HGNC:30209, + HGNC_symbol:PCP2 ; biolink:category biolink:Gene . OMIM:619346 a owl:Class ; @@ -367813,7 +383848,8 @@ OMIM:619346 a owl:Class ; "n6-methyl-amp aminohydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161823 ; - skos:exactMatch HGNC_symbol:ADAL ; + skos:exactMatch HGNC:31853, + HGNC_symbol:ADAL ; biolink:category biolink:Gene . OMIM:619347 a owl:Class ; @@ -367822,7 +383858,8 @@ OMIM:619347 a owl:Class ; "coiled-coil domain-containing protein 96" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257236 ; - skos:exactMatch HGNC_symbol:CCDC96 ; + skos:exactMatch HGNC:26900, + HGNC_symbol:CCDC96 ; biolink:category biolink:Gene . OMIM:619348 a owl:Class ; @@ -367832,7 +383869,8 @@ OMIM:619348 a owl:Class ; "lem domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:126549 ; - skos:exactMatch HGNC_symbol:ANKLE1 ; + skos:exactMatch HGNC:26812, + HGNC_symbol:ANKLE1 ; biolink:category biolink:Gene . OMIM:619349 a owl:Class ; @@ -367843,7 +383881,8 @@ OMIM:619349 a owl:Class ; "myeloma overexpressed gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150678 ; - skos:exactMatch HGNC_symbol:COPS9 ; + skos:exactMatch HGNC:21314, + HGNC_symbol:COPS9 ; biolink:category biolink:Gene . OMIM:619351 a owl:Class ; @@ -367860,7 +383899,8 @@ OMIM:619353 a owl:Class ; "par3-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117583 ; - skos:exactMatch HGNC_symbol:PARD3B ; + skos:exactMatch HGNC:14446, + HGNC_symbol:PARD3B ; biolink:category biolink:Gene . OMIM:619357 a owl:Class ; @@ -367870,7 +383910,8 @@ OMIM:619357 a owl:Class ; "coilin-interacting nuclear atpase protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:102157402 ; - skos:exactMatch HGNC_symbol:AK6 ; + skos:exactMatch HGNC:49151, + HGNC_symbol:AK6 ; biolink:category biolink:Gene . OMIM:619358 a owl:Class ; @@ -367883,7 +383924,8 @@ OMIM:619358 a owl:Class ; "microtubule-associated tumor suppressor candidate 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23281 ; - skos:exactMatch HGNC_symbol:MTUS2 ; + skos:exactMatch HGNC:20595, + HGNC_symbol:MTUS2 ; biolink:category biolink:Gene . OMIM:619359 a owl:Class ; @@ -367892,7 +383934,8 @@ OMIM:619359 a owl:Class ; "bone morphogenetic protein/retinoic acid-inducible neural-specific protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57795 ; - skos:exactMatch HGNC_symbol:BRINP2 ; + skos:exactMatch HGNC:13746, + HGNC_symbol:BRINP2 ; biolink:category biolink:Gene . OMIM:619360 a owl:Class ; @@ -367915,7 +383958,8 @@ OMIM:619364 a owl:Class ; "tatd dnase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:83940 ; - skos:exactMatch HGNC_symbol:TATDN1 ; + skos:exactMatch HGNC:24220, + HGNC_symbol:TATDN1 ; biolink:category biolink:Gene . OMIM:619368 a owl:Class ; @@ -367925,7 +383969,8 @@ OMIM:619368 a owl:Class ; "leucine-rich repeat-containing protein 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9684 ; - skos:exactMatch HGNC_symbol:LRRC14 ; + skos:exactMatch HGNC:20419, + HGNC_symbol:LRRC14 ; biolink:category biolink:Gene . OMIM:619370 a owl:Class ; @@ -367936,7 +383981,8 @@ OMIM:619370 a owl:Class ; "kiaa0907" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22889 ; - skos:exactMatch HGNC_symbol:KHDC4 ; + skos:exactMatch HGNC:29145, + HGNC_symbol:KHDC4 ; biolink:category biolink:Gene . OMIM:619372 a owl:Class ; @@ -367947,7 +383993,8 @@ OMIM:619372 a owl:Class ; "urb2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9816 ; - skos:exactMatch HGNC_symbol:URB2 ; + skos:exactMatch HGNC:28967, + HGNC_symbol:URB2 ; biolink:category biolink:Gene . OMIM:619378 a owl:Class ; @@ -367958,7 +384005,8 @@ OMIM:619378 a owl:Class ; "small nucleolar rna, h/aca box, 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:677814 ; - skos:exactMatch HGNC_symbol:SNORA31 ; + skos:exactMatch HGNC:32621, + HGNC_symbol:SNORA31 ; biolink:category biolink:Gene . OMIM:619384 a owl:Class ; @@ -367969,7 +384017,8 @@ OMIM:619384 a owl:Class ; "zinc finger- and btb domain-containing protein 39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9880 ; - skos:exactMatch HGNC_symbol:ZBTB39 ; + skos:exactMatch HGNC:29014, + HGNC_symbol:ZBTB39 ; biolink:category biolink:Gene . OMIM:619385 a owl:Class ; @@ -367979,7 +384028,8 @@ OMIM:619385 a owl:Class ; "zinc finger protein 510" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22869 ; - skos:exactMatch HGNC_symbol:ZNF510 ; + skos:exactMatch HGNC:29161, + HGNC_symbol:ZNF510 ; biolink:category biolink:Gene . OMIM:619387 a owl:Class ; @@ -367991,7 +384041,8 @@ OMIM:619387 a owl:Class ; "ciliogenesis-associated ttc17-interacting protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:375307 ; - skos:exactMatch HGNC_symbol:CATIP ; + skos:exactMatch HGNC:25062, + HGNC_symbol:CATIP ; biolink:category biolink:Gene . OMIM:619388 a owl:Class ; @@ -368000,7 +384051,8 @@ OMIM:619388 a owl:Class ; "tetratricopeptide repeat domain-containing protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55761 ; - skos:exactMatch HGNC_symbol:TTC17 ; + skos:exactMatch HGNC:25596, + HGNC_symbol:TTC17 ; biolink:category biolink:Gene . OMIM:619390 a owl:Class ; @@ -368010,7 +384062,8 @@ OMIM:619390 a owl:Class ; "kiaa1510" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57642 ; - skos:exactMatch HGNC_symbol:COL20A1 ; + skos:exactMatch HGNC:14670, + HGNC_symbol:COL20A1 ; biolink:category biolink:Gene . OMIM:619391 a owl:Class ; @@ -368019,7 +384072,8 @@ OMIM:619391 a owl:Class ; "coiled-coil domain-containing protein 157" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:550631 ; - skos:exactMatch HGNC_symbol:CCDC157 ; + skos:exactMatch HGNC:33854, + HGNC_symbol:CCDC157 ; biolink:category biolink:Gene . OMIM:619392 a owl:Class ; @@ -368029,7 +384083,8 @@ OMIM:619392 a owl:Class ; "nutritionally regulated adipose- and cardiac-enriched gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:400258 ; - skos:exactMatch HGNC_symbol:C14orf180 ; + skos:exactMatch HGNC:33795, + HGNC_symbol:C14orf180 ; biolink:category biolink:Gene . OMIM:619393 a owl:Class ; @@ -368038,7 +384093,8 @@ OMIM:619393 a owl:Class ; "kelch repeat- and btb domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:25948 ; - skos:exactMatch HGNC_symbol:KBTBD2 ; + skos:exactMatch HGNC:21751, + HGNC_symbol:KBTBD2 ; biolink:category biolink:Gene . OMIM:619394 a owl:Class ; @@ -368047,7 +384103,8 @@ OMIM:619394 a owl:Class ; "carbonyl reductase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84869 ; - skos:exactMatch HGNC_symbol:CBR4 ; + skos:exactMatch HGNC:25891, + HGNC_symbol:CBR4 ; biolink:category biolink:Gene . OMIM:619395 a owl:Class ; @@ -368058,7 +384115,8 @@ OMIM:619395 a owl:Class ; "myelin expression factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50804 ; - skos:exactMatch HGNC_symbol:MYEF2 ; + skos:exactMatch HGNC:17940, + HGNC_symbol:MYEF2 ; biolink:category biolink:Gene . OMIM:619397 a owl:Class ; @@ -368067,7 +384125,8 @@ OMIM:619397 a owl:Class ; "zinc finger protein-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7542 ; - skos:exactMatch HGNC_symbol:ZFPL1 ; + skos:exactMatch HGNC:12868, + HGNC_symbol:ZFPL1 ; biolink:category biolink:Gene . OMIM:619399 a owl:Class ; @@ -368076,7 +384135,8 @@ OMIM:619399 a owl:Class ; "tetraspanin 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90139 ; - skos:exactMatch HGNC_symbol:TSPAN18 ; + skos:exactMatch HGNC:20660, + HGNC_symbol:TSPAN18 ; biolink:category biolink:Gene . OMIM:619400 a owl:Class ; @@ -368093,7 +384153,8 @@ OMIM:619403 a owl:Class ; "long noncoding RNA ccat2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:101805488 ; - skos:exactMatch HGNC_symbol:CCAT2 ; + skos:exactMatch HGNC:47044, + HGNC_symbol:CCAT2 ; biolink:category biolink:Gene . OMIM:619404 a owl:Class ; @@ -368103,7 +384164,8 @@ OMIM:619404 a owl:Class ; "trna methyltransferase 61b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55006 ; - skos:exactMatch HGNC_symbol:TRMT61B ; + skos:exactMatch HGNC:26070, + HGNC_symbol:TRMT61B ; biolink:category biolink:Gene . OMIM:619408 a owl:Class ; @@ -368112,7 +384174,8 @@ OMIM:619408 a owl:Class ; "tripartite motif-containing protein 65" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:201292 ; - skos:exactMatch HGNC_symbol:TRIM65 ; + skos:exactMatch HGNC:27316, + HGNC_symbol:TRIM65 ; biolink:category biolink:Gene . OMIM:619409 a owl:Class ; @@ -368121,7 +384184,8 @@ OMIM:619409 a owl:Class ; "translocator protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:222642 ; - skos:exactMatch HGNC_symbol:TSPO2 ; + skos:exactMatch HGNC:21256, + HGNC_symbol:TSPO2 ; biolink:category biolink:Gene . OMIM:619410 a owl:Class ; @@ -368131,7 +384195,8 @@ OMIM:619410 a owl:Class ; "tubulin tyrosine ligase-like family, member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23170 ; - skos:exactMatch HGNC_symbol:TTLL12 ; + skos:exactMatch HGNC:28974, + HGNC_symbol:TTLL12 ; biolink:category biolink:Gene . OMIM:619411 a owl:Class ; @@ -368143,7 +384208,8 @@ OMIM:619411 a owl:Class ; "spc2, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9789 ; - skos:exactMatch HGNC_symbol:SPCS2 ; + skos:exactMatch HGNC:28962, + HGNC_symbol:SPCS2 ; biolink:category biolink:Gene . OMIM:619412 a owl:Class ; @@ -368154,7 +384220,8 @@ OMIM:619412 a owl:Class ; "sec14-like lipid-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9717 ; - skos:exactMatch HGNC_symbol:SEC14L5 ; + skos:exactMatch HGNC:29032, + HGNC_symbol:SEC14L5 ; biolink:category biolink:Gene . OMIM:619413 a owl:Class ; @@ -368164,7 +384231,8 @@ OMIM:619413 a owl:Class ; "kiaa0565" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9720 ; - skos:exactMatch HGNC_symbol:CCDC144A ; + skos:exactMatch HGNC:29072, + HGNC_symbol:CCDC144A ; biolink:category biolink:Gene . OMIM:619414 a owl:Class ; @@ -368175,7 +384243,8 @@ OMIM:619414 a owl:Class ; "mitochondrial fission regulator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9650 ; - skos:exactMatch HGNC_symbol:MTFR1 ; + skos:exactMatch HGNC:29510, + HGNC_symbol:MTFR1 ; biolink:category biolink:Gene . OMIM:619415 a owl:Class ; @@ -368185,7 +384254,8 @@ OMIM:619415 a owl:Class ; "tau tubulin kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84630 ; - skos:exactMatch HGNC_symbol:TTBK1 ; + skos:exactMatch HGNC:19140, + HGNC_symbol:TTBK1 ; biolink:category biolink:Gene . OMIM:619416 a owl:Class ; @@ -368195,7 +384265,8 @@ OMIM:619416 a owl:Class ; "tripartite motif-containing protein 60" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:166655 ; - skos:exactMatch HGNC_symbol:TRIM60 ; + skos:exactMatch HGNC:21162, + HGNC_symbol:TRIM60 ; biolink:category biolink:Gene . OMIM:619417 a owl:Class ; @@ -368205,7 +384276,8 @@ OMIM:619417 a owl:Class ; "tripartite motif-containing protein 61" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391712 ; - skos:exactMatch HGNC_symbol:TRIM61 ; + skos:exactMatch HGNC:24339, + HGNC_symbol:TRIM61 ; biolink:category biolink:Gene . OMIM:619419 a owl:Class ; @@ -368215,7 +384287,8 @@ OMIM:619419 a owl:Class ; "nac-alpha domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23148 ; - skos:exactMatch HGNC_symbol:NACAD ; + skos:exactMatch HGNC:22196, + HGNC_symbol:NACAD ; biolink:category biolink:Gene . OMIM:619420 a owl:Class ; @@ -368232,7 +384305,8 @@ OMIM:619421 a owl:Class ; "dynactin-associated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284254 ; - skos:exactMatch HGNC_symbol:DYNAP ; + skos:exactMatch HGNC:26808, + HGNC_symbol:DYNAP ; biolink:category biolink:Gene . OMIM:619425 a owl:Class ; @@ -368249,7 +384323,8 @@ OMIM:619427 a owl:Class ; "zinc finger protein 410" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57862 ; - skos:exactMatch HGNC_symbol:ZNF410 ; + skos:exactMatch HGNC:20144, + HGNC_symbol:ZNF410 ; biolink:category biolink:Gene . OMIM:619429 a owl:Class ; @@ -368258,7 +384333,8 @@ OMIM:619429 a owl:Class ; "transmembrane and coiled-coil domain family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9911 ; - skos:exactMatch HGNC_symbol:TMCC2 ; + skos:exactMatch HGNC:24239, + HGNC_symbol:TMCC2 ; biolink:category biolink:Gene . OMIM:619430 a owl:Class ; @@ -368268,7 +384344,8 @@ OMIM:619430 a owl:Class ; "serine protease inhibitor, kunitz-type, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391253 ; - skos:exactMatch HGNC_symbol:SPINT4 ; + skos:exactMatch HGNC:16130, + HGNC_symbol:SPINT4 ; biolink:category biolink:Gene . OMIM:619431 a owl:Class ; @@ -368286,7 +384363,8 @@ OMIM:619432 a owl:Class ; "n-alpha-acetyltransferase 11, nata catalytic subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84779 ; - skos:exactMatch HGNC_symbol:NAA11 ; + skos:exactMatch HGNC:28125, + HGNC_symbol:NAA11 ; biolink:category biolink:Gene . OMIM:619434 a owl:Class ; @@ -368296,7 +384374,8 @@ OMIM:619434 a owl:Class ; "sun domain-containing ossification factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51430 ; - skos:exactMatch HGNC_symbol:SUCO ; + skos:exactMatch HGNC:1240, + HGNC_symbol:SUCO ; biolink:category biolink:Gene . OMIM:619438 a owl:Class ; @@ -368306,7 +384385,8 @@ OMIM:619438 a owl:Class ; "n-alpha-acetyltransferase 35, natc auxiliary subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60560 ; - skos:exactMatch HGNC_symbol:NAA35 ; + skos:exactMatch HGNC:24340, + HGNC_symbol:NAA35 ; biolink:category biolink:Gene . OMIM:619439 a owl:Class ; @@ -368316,7 +384396,8 @@ OMIM:619439 a owl:Class ; "poly(adp-ribose) polymerase family, member 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56965 ; - skos:exactMatch HGNC_symbol:PARP6 ; + skos:exactMatch HGNC:26921, + HGNC_symbol:PARP6 ; biolink:category biolink:Gene . OMIM:619440 a owl:Class ; @@ -368325,7 +384406,8 @@ OMIM:619440 a owl:Class ; "glutamine- and serine-rich protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79832 ; - skos:exactMatch HGNC_symbol:QSER1 ; + skos:exactMatch HGNC:26154, + HGNC_symbol:QSER1 ; biolink:category biolink:Gene . OMIM:619442 a owl:Class ; @@ -368335,7 +384417,8 @@ OMIM:619442 a owl:Class ; "tusp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56995 ; - skos:exactMatch HGNC_symbol:TULP4 ; + skos:exactMatch HGNC:15530, + HGNC_symbol:TULP4 ; biolink:category biolink:Gene . OMIM:619443 a owl:Class ; @@ -368345,7 +384428,8 @@ OMIM:619443 a owl:Class ; "meis1-related gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56917 ; - skos:exactMatch HGNC_symbol:MEIS3 ; + skos:exactMatch HGNC:29537, + HGNC_symbol:MEIS3 ; biolink:category biolink:Gene . OMIM:619444 a owl:Class ; @@ -368355,7 +384439,8 @@ OMIM:619444 a owl:Class ; "coiled-coil domain-containing protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79741 ; - skos:exactMatch HGNC_symbol:CCDC7 ; + skos:exactMatch HGNC:26533, + HGNC_symbol:CCDC7 ; biolink:category biolink:Gene . OMIM:619445 a owl:Class ; @@ -368373,7 +384458,8 @@ OMIM:619447 a owl:Class ; "family with sequence similarity 189, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10712 ; - skos:exactMatch HGNC_symbol:FAM189B ; + skos:exactMatch HGNC:1233, + HGNC_symbol:FAM189B ; biolink:category biolink:Gene . OMIM:619448 a owl:Class ; @@ -368384,7 +384470,8 @@ OMIM:619448 a owl:Class ; "steroid receptor-associated and -regulated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149563 ; - skos:exactMatch HGNC_symbol:SRARP ; + skos:exactMatch HGNC:28339, + HGNC_symbol:SRARP ; biolink:category biolink:Gene . OMIM:619449 a owl:Class ; @@ -368395,7 +384482,8 @@ OMIM:619449 a owl:Class ; "ribosomal rna-processing protein 7 homolog a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27341 ; - skos:exactMatch HGNC_symbol:RRP7A ; + skos:exactMatch HGNC:24286, + HGNC_symbol:RRP7A ; biolink:category biolink:Gene . OMIM:619450 a owl:Class ; @@ -368405,7 +384493,8 @@ OMIM:619450 a owl:Class ; "mirna874" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100126343 ; - skos:exactMatch HGNC_symbol:MIR874 ; + skos:exactMatch HGNC:33643, + HGNC_symbol:MIR874 ; biolink:category biolink:Gene . OMIM:619454 a owl:Class ; @@ -368416,7 +384505,8 @@ OMIM:619454 a owl:Class ; "ubcm4-interacting protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9781 ; - skos:exactMatch HGNC_symbol:RNF144A ; + skos:exactMatch HGNC:20457, + HGNC_symbol:RNF144A ; biolink:category biolink:Gene . OMIM:619455 a owl:Class ; @@ -368427,7 +384517,8 @@ OMIM:619455 a owl:Class ; "tyrosine kinase substrate with 5 sh3 domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9644 ; - skos:exactMatch HGNC_symbol:SH3PXD2A ; + skos:exactMatch HGNC:23664, + HGNC_symbol:SH3PXD2A ; biolink:category biolink:Gene . OMIM:619456 a owl:Class ; @@ -368437,7 +384528,8 @@ OMIM:619456 a owl:Class ; "spec1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56882 ; - skos:exactMatch HGNC_symbol:CDC42SE1 ; + skos:exactMatch HGNC:17719, + HGNC_symbol:CDC42SE1 ; biolink:category biolink:Gene . OMIM:619457 a owl:Class ; @@ -368447,7 +384539,8 @@ OMIM:619457 a owl:Class ; "spec2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56990 ; - skos:exactMatch HGNC_symbol:CDC42SE2 ; + skos:exactMatch HGNC:18547, + HGNC_symbol:CDC42SE2 ; biolink:category biolink:Gene . OMIM:619458 a owl:Class ; @@ -368457,7 +384550,8 @@ OMIM:619458 a owl:Class ; "methyl-cpg-binding domain protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114785 ; - skos:exactMatch HGNC_symbol:MBD6 ; + skos:exactMatch HGNC:20445, + HGNC_symbol:MBD6 ; biolink:category biolink:Gene . OMIM:619459 a owl:Class ; @@ -368467,7 +384561,8 @@ OMIM:619459 a owl:Class ; "zinc finger zz-type domain- and ef-hand domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23140 ; - skos:exactMatch HGNC_symbol:ZZEF1 ; + skos:exactMatch HGNC:29027, + HGNC_symbol:ZZEF1 ; biolink:category biolink:Gene . OMIM:619464 a owl:Class ; @@ -368498,7 +384593,8 @@ OMIM:619469 a owl:Class ; "transmembrane protein 222" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84065 ; - skos:exactMatch HGNC_symbol:TMEM222 ; + skos:exactMatch HGNC:25363, + HGNC_symbol:TMEM222 ; biolink:category biolink:Gene . OMIM:619471 a owl:Class ; @@ -368522,7 +384618,8 @@ OMIM:619474 a owl:Class ; "r3h domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23518 ; - skos:exactMatch HGNC_symbol:R3HDM1 ; + skos:exactMatch HGNC:9757, + HGNC_symbol:R3HDM1 ; biolink:category biolink:Gene . OMIM:619476 a owl:Class ; @@ -368549,7 +384646,8 @@ OMIM:619485 a owl:Class ; "pregnancy-associated plasma protein e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60676 ; - skos:exactMatch HGNC_symbol:PAPPA2 ; + skos:exactMatch HGNC:14615, + HGNC_symbol:PAPPA2 ; biolink:category biolink:Gene . OMIM:619490 a owl:Class ; @@ -368560,7 +384658,8 @@ OMIM:619490 a owl:Class ; "lmbr1 domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92255 ; - skos:exactMatch HGNC_symbol:LMBRD2 ; + skos:exactMatch HGNC:25287, + HGNC_symbol:LMBRD2 ; biolink:category biolink:Gene . OMIM:619492 a owl:Class ; @@ -368578,7 +384677,8 @@ OMIM:619494 a owl:Class ; "small nucleolar RNA host gene 11, noncoding" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128439 ; - skos:exactMatch HGNC_symbol:SNHG11 ; + skos:exactMatch HGNC:25046, + HGNC_symbol:SNHG11 ; biolink:category biolink:Gene . OMIM:619495 a owl:Class ; @@ -368589,7 +384689,8 @@ OMIM:619495 a owl:Class ; "tmdciii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8749 ; - skos:exactMatch HGNC_symbol:ADAM18 ; + skos:exactMatch HGNC:196, + HGNC_symbol:ADAM18 ; biolink:category biolink:Gene . OMIM:619496 a owl:Class ; @@ -368599,7 +384700,8 @@ OMIM:619496 a owl:Class ; "zinc finger protein 358" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140467 ; - skos:exactMatch HGNC_symbol:ZNF358 ; + skos:exactMatch HGNC:16838, + HGNC_symbol:ZNF358 ; biolink:category biolink:Gene . OMIM:619497 a owl:Class ; @@ -368609,7 +384711,8 @@ OMIM:619497 a owl:Class ; "narg1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79612 ; - skos:exactMatch HGNC_symbol:NAA16 ; + skos:exactMatch HGNC:26164, + HGNC_symbol:NAA16 ; biolink:category biolink:Gene . OMIM:619498 a owl:Class ; @@ -368619,7 +384722,8 @@ OMIM:619498 a owl:Class ; "zinc finger ccch domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23211 ; - skos:exactMatch HGNC_symbol:ZC3H4 ; + skos:exactMatch HGNC:17808, + HGNC_symbol:ZC3H4 ; biolink:category biolink:Gene . OMIM:619499 a owl:Class ; @@ -368628,7 +384732,8 @@ OMIM:619499 a owl:Class ; "zinc finger protein 383" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:163087 ; - skos:exactMatch HGNC_symbol:ZNF383 ; + skos:exactMatch HGNC:18609, + HGNC_symbol:ZNF383 ; biolink:category biolink:Gene . OMIM:619500 a owl:Class ; @@ -368646,7 +384751,8 @@ OMIM:619502 a owl:Class ; "nyd-sp22" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84688 ; - skos:exactMatch HGNC_symbol:C9orf24 ; + skos:exactMatch HGNC:19919, + HGNC_symbol:C9orf24 ; biolink:category biolink:Gene . OMIM:619505 a owl:Class ; @@ -368656,7 +384762,8 @@ OMIM:619505 a owl:Class ; "zinc finger protein 932" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:170959 ; - skos:exactMatch HGNC_symbol:ZNF431 ; + skos:exactMatch HGNC:20809, + HGNC_symbol:ZNF431 ; biolink:category biolink:Gene . OMIM:619506 a owl:Class ; @@ -368665,7 +384772,8 @@ OMIM:619506 a owl:Class ; "zinc finger protein 415" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55786 ; - skos:exactMatch HGNC_symbol:ZNF415 ; + skos:exactMatch HGNC:20636, + HGNC_symbol:ZNF415 ; biolink:category biolink:Gene . OMIM:619507 a owl:Class ; @@ -368674,7 +384782,8 @@ OMIM:619507 a owl:Class ; "zinc finger protein 425" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:155054 ; - skos:exactMatch HGNC_symbol:ZNF425 ; + skos:exactMatch HGNC:20690, + HGNC_symbol:ZNF425 ; biolink:category biolink:Gene . OMIM:619508 a owl:Class ; @@ -368684,7 +384793,8 @@ OMIM:619508 a owl:Class ; "zinc finger protein 445" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:353274 ; - skos:exactMatch HGNC_symbol:ZNF445 ; + skos:exactMatch HGNC:21018, + HGNC_symbol:ZNF445 ; biolink:category biolink:Gene . OMIM:619509 a owl:Class ; @@ -368694,7 +384804,8 @@ OMIM:619509 a owl:Class ; "zinc finger protein 418" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:147686 ; - skos:exactMatch HGNC_symbol:ZNF418 ; + skos:exactMatch HGNC:20647, + HGNC_symbol:ZNF418 ; biolink:category biolink:Gene . OMIM:619511 a owl:Class ; @@ -368704,7 +384815,8 @@ OMIM:619511 a owl:Class ; "zinc finger protein 354c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30832 ; - skos:exactMatch HGNC_symbol:ZNF354C ; + skos:exactMatch HGNC:16736, + HGNC_symbol:ZNF354C ; biolink:category biolink:Gene . OMIM:619512 a owl:Class ; @@ -368721,7 +384833,8 @@ OMIM:619513 a owl:Class ; "swt1, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54823 ; - skos:exactMatch HGNC_symbol:SWT1 ; + skos:exactMatch HGNC:16785, + HGNC_symbol:SWT1 ; biolink:category biolink:Gene . OMIM:619514 a owl:Class ; @@ -368732,7 +384845,8 @@ OMIM:619514 a owl:Class ; "shcbp1-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81626 ; - skos:exactMatch HGNC_symbol:SHCBP1L ; + skos:exactMatch HGNC:16788, + HGNC_symbol:SHCBP1L ; biolink:category biolink:Gene . OMIM:619516 a owl:Class ; @@ -368742,7 +384856,8 @@ OMIM:619516 a owl:Class ; "bifunctional apoptosis regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51283 ; - skos:exactMatch HGNC_symbol:BFAR ; + skos:exactMatch HGNC:17613, + HGNC_symbol:BFAR ; biolink:category biolink:Gene . OMIM:619520 a owl:Class ; @@ -368760,7 +384875,8 @@ OMIM:619524 a owl:Class ; "zinc finger protein 764" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92595 ; - skos:exactMatch HGNC_symbol:ZNF764 ; + skos:exactMatch HGNC:28200, + HGNC_symbol:ZNF764 ; biolink:category biolink:Gene . OMIM:619525 a owl:Class ; @@ -368777,7 +384893,8 @@ OMIM:619526 a owl:Class ; "zinc finger protein 706" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51123 ; - skos:exactMatch HGNC_symbol:ZNF706 ; + skos:exactMatch HGNC:24992, + HGNC_symbol:ZNF706 ; biolink:category biolink:Gene . OMIM:619527 a owl:Class ; @@ -368797,7 +384914,8 @@ OMIM:619529 a owl:Class ; "trimmer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:154197 ; - skos:exactMatch HGNC_symbol:PNLDC1 ; + skos:exactMatch HGNC:21185, + HGNC_symbol:PNLDC1 ; biolink:category biolink:Gene . OMIM:619530 a owl:Class ; @@ -368807,7 +384925,8 @@ OMIM:619530 a owl:Class ; "solute carrier family 35, member c2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51006 ; - skos:exactMatch HGNC_symbol:SLC35C2 ; + skos:exactMatch HGNC:17117, + HGNC_symbol:SLC35C2 ; biolink:category biolink:Gene . OMIM:619532 a owl:Class ; @@ -368817,7 +384936,8 @@ OMIM:619532 a owl:Class ; "tenr-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:161931 ; - skos:exactMatch HGNC_symbol:ADAD2 ; + skos:exactMatch HGNC:30714, + HGNC_symbol:ADAD2 ; biolink:category biolink:Gene . OMIM:619533 a owl:Class ; @@ -368828,7 +384948,8 @@ OMIM:619533 a owl:Class ; "rad21l" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:642636 ; - skos:exactMatch HGNC_symbol:RAD21L1 ; + skos:exactMatch HGNC:16271, + HGNC_symbol:RAD21L1 ; biolink:category biolink:Gene . OMIM:619535 a owl:Class ; @@ -368840,7 +384961,8 @@ OMIM:619535 a owl:Class ; "zinc finger protein 364" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27246 ; - skos:exactMatch HGNC_symbol:RNF115 ; + skos:exactMatch HGNC:18154, + HGNC_symbol:RNF115 ; biolink:category biolink:Gene . OMIM:619536 a owl:Class ; @@ -368850,7 +384972,8 @@ OMIM:619536 a owl:Class ; "ubiquitin-specific peptidase 31" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57478 ; - skos:exactMatch HGNC_symbol:USP31 ; + skos:exactMatch HGNC:20060, + HGNC_symbol:USP31 ; biolink:category biolink:Gene . OMIM:619537 a owl:Class ; @@ -368862,7 +384985,8 @@ OMIM:619537 a owl:Class ; "kiaa0759" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23357 ; - skos:exactMatch HGNC_symbol:ANGEL1 ; + skos:exactMatch HGNC:19961, + HGNC_symbol:ANGEL1 ; biolink:category biolink:Gene . OMIM:619538 a owl:Class ; @@ -368877,7 +385001,8 @@ OMIM:619540 a owl:Class ; "protein phosphatase 1, regulatory subunit 3e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90673 ; - skos:exactMatch HGNC_symbol:PPP1R3E ; + skos:exactMatch HGNC:14943, + HGNC_symbol:PPP1R3E ; biolink:category biolink:Gene . OMIM:619541 a owl:Class ; @@ -368886,7 +385011,8 @@ OMIM:619541 a owl:Class ; "protein phosphatase 1, regulatory subunit 3g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:648791 ; - skos:exactMatch HGNC_symbol:PPP1R3G ; + skos:exactMatch HGNC:14945, + HGNC_symbol:PPP1R3G ; biolink:category biolink:Gene . OMIM:619542 a owl:Class ; @@ -368903,7 +385029,8 @@ OMIM:619544 a owl:Class ; "proline-rich coiled-coil protein 2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84726 ; - skos:exactMatch HGNC_symbol:PRRC2B ; + skos:exactMatch HGNC:28121, + HGNC_symbol:PRRC2B ; biolink:category biolink:Gene . OMIM:619545 a owl:Class ; @@ -368921,7 +385048,8 @@ OMIM:619546 a owl:Class ; "olfactory receptor, family 10, subfamily j, member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:127385 ; - skos:exactMatch HGNC_symbol:OR10J5 ; + skos:exactMatch HGNC:14993, + HGNC_symbol:OR10J5 ; biolink:category biolink:Gene . OMIM:619547 a owl:Class ; @@ -368931,7 +385059,8 @@ OMIM:619547 a owl:Class ; "ras-related protein rab15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:376267 ; - skos:exactMatch HGNC_symbol:RAB15 ; + skos:exactMatch HGNC:20150, + HGNC_symbol:RAB15 ; biolink:category biolink:Gene . OMIM:619550 a owl:Class ; @@ -368941,7 +385070,8 @@ OMIM:619550 a owl:Class ; "ras-related protein rab40b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10966 ; - skos:exactMatch HGNC_symbol:RAB40B ; + skos:exactMatch HGNC:18284, + HGNC_symbol:RAB40B ; biolink:category biolink:Gene . OMIM:619551 a owl:Class ; @@ -368951,7 +385081,8 @@ OMIM:619551 a owl:Class ; "ras-related protein rab40c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57799 ; - skos:exactMatch HGNC_symbol:RAB40C ; + skos:exactMatch HGNC:18285, + HGNC_symbol:RAB40C ; biolink:category biolink:Gene . OMIM:619552 a owl:Class ; @@ -368962,7 +385093,8 @@ OMIM:619552 a owl:Class ; "protein mago nashi homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55110 ; - skos:exactMatch HGNC_symbol:MAGOHB ; + skos:exactMatch HGNC:25504, + HGNC_symbol:MAGOHB ; biolink:category biolink:Gene . OMIM:619553 a owl:Class ; @@ -368980,7 +385112,8 @@ OMIM:619554 a owl:Class ; "mitochondrial translational initiation factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:219402 ; - skos:exactMatch HGNC_symbol:MTIF3 ; + skos:exactMatch HGNC:29788, + HGNC_symbol:MTIF3 ; biolink:category biolink:Gene . OMIM:619555 a owl:Class ; @@ -368999,7 +385132,8 @@ OMIM:619558 a owl:Class ; "ras-related protein rab39a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54734 ; - skos:exactMatch HGNC_symbol:RAB39A ; + skos:exactMatch HGNC:16521, + HGNC_symbol:RAB39A ; biolink:category biolink:Gene . OMIM:619559 a owl:Class ; @@ -369009,7 +385143,8 @@ OMIM:619559 a owl:Class ; "kiaa0494" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9813 ; - skos:exactMatch HGNC_symbol:EFCAB14 ; + skos:exactMatch HGNC:29051, + HGNC_symbol:EFCAB14 ; biolink:category biolink:Gene . OMIM:619560 a owl:Class ; @@ -369019,7 +385154,8 @@ OMIM:619560 a owl:Class ; "mirna135b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:442891 ; - skos:exactMatch HGNC_symbol:MIR135B ; + skos:exactMatch HGNC:31760, + HGNC_symbol:MIR135B ; biolink:category biolink:Gene . OMIM:619563 a owl:Class ; @@ -369028,7 +385164,8 @@ OMIM:619563 a owl:Class ; "mical-like protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85377 ; - skos:exactMatch HGNC_symbol:MICALL1 ; + skos:exactMatch HGNC:29804, + HGNC_symbol:MICALL1 ; biolink:category biolink:Gene . OMIM:619564 a owl:Class ; @@ -369038,7 +385175,8 @@ OMIM:619564 a owl:Class ; "ef-hand calcium-binding domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79645 ; - skos:exactMatch HGNC_symbol:CLXN ; + skos:exactMatch HGNC:25678, + HGNC_symbol:CLXN ; biolink:category biolink:Gene . OMIM:619567 a owl:Class ; @@ -369047,7 +385185,8 @@ OMIM:619567 a owl:Class ; "ef-hand calcium-binding domain-containing protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146779 ; - skos:exactMatch HGNC_symbol:EFCAB3 ; + skos:exactMatch HGNC:26379, + HGNC_symbol:EFCAB3 ; biolink:category biolink:Gene . OMIM:619568 a owl:Class ; @@ -369057,7 +385196,8 @@ OMIM:619568 a owl:Class ; "kiaa0830" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23052 ; - skos:exactMatch HGNC_symbol:ENDOD1 ; + skos:exactMatch HGNC:29129, + HGNC_symbol:ENDOD1 ; biolink:category biolink:Gene . OMIM:619569 a owl:Class ; @@ -369067,7 +385207,8 @@ OMIM:619569 a owl:Class ; "telomere length and silencing 1, s. pombe, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51759 ; - skos:exactMatch HGNC_symbol:C9orf78 ; + skos:exactMatch HGNC:24932, + HGNC_symbol:C9orf78 ; biolink:category biolink:Gene . OMIM:619570 a owl:Class ; @@ -369077,7 +385218,8 @@ OMIM:619570 a owl:Class ; "uhrf1-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54887 ; - skos:exactMatch HGNC_symbol:UHRF1BP1 ; + skos:exactMatch HGNC:21216, + HGNC_symbol:UHRF1BP1 ; biolink:category biolink:Gene . OMIM:619571 a owl:Class ; @@ -369087,7 +385229,8 @@ OMIM:619571 a owl:Class ; "fetal globin-increasing factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54851 ; - skos:exactMatch HGNC_symbol:ANKRD49 ; + skos:exactMatch HGNC:25970, + HGNC_symbol:ANKRD49 ; biolink:category biolink:Gene . OMIM:619572 a owl:Class ; @@ -369097,7 +385240,8 @@ OMIM:619572 a owl:Class ; "mirna15b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406949 ; - skos:exactMatch HGNC_symbol:MIR15B ; + skos:exactMatch HGNC:31544, + HGNC_symbol:MIR15B ; biolink:category biolink:Gene . OMIM:619574 a owl:Class ; @@ -369115,7 +385259,8 @@ OMIM:619577 a owl:Class ; "zinc finger- and g-patch domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84619 ; - skos:exactMatch HGNC_symbol:ZGPAT ; + skos:exactMatch HGNC:15948, + HGNC_symbol:ZGPAT ; biolink:category biolink:Gene . OMIM:619578 a owl:Class ; @@ -369127,7 +385272,8 @@ OMIM:619578 a owl:Class ; "spermatogenesis-associated protein 5-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79029 ; - skos:exactMatch HGNC_symbol:SPATA5L1 ; + skos:exactMatch HGNC:28762, + HGNC_symbol:SPATA5L1 ; biolink:category biolink:Gene . OMIM:619579 a owl:Class ; @@ -369136,7 +385282,8 @@ OMIM:619579 a owl:Class ; "kh domain- and nyn domain-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23351 ; - skos:exactMatch HGNC_symbol:KHNYN ; + skos:exactMatch HGNC:20166, + HGNC_symbol:KHNYN ; biolink:category biolink:Gene . OMIM:619581 a owl:Class ; @@ -369146,7 +385293,8 @@ OMIM:619581 a owl:Class ; "solute carrier family 45, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57210 ; - skos:exactMatch HGNC_symbol:SLC45A4 ; + skos:exactMatch HGNC:29196, + HGNC_symbol:SLC45A4 ; biolink:category biolink:Gene . OMIM:619582 a owl:Class ; @@ -369164,7 +385312,8 @@ OMIM:619583 a owl:Class ; "tangerin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:254102 ; - skos:exactMatch HGNC_symbol:EHBP1L1 ; + skos:exactMatch HGNC:30682, + HGNC_symbol:EHBP1L1 ; biolink:category biolink:Gene . OMIM:619584 a owl:Class ; @@ -369174,7 +385323,8 @@ OMIM:619584 a owl:Class ; "wsc domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23302 ; - skos:exactMatch HGNC_symbol:WSCD1 ; + skos:exactMatch HGNC:29060, + HGNC_symbol:WSCD1 ; biolink:category biolink:Gene . OMIM:619586 a owl:Class ; @@ -369184,7 +385334,8 @@ OMIM:619586 a owl:Class ; "tspy-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23270 ; - skos:exactMatch HGNC_symbol:TSPYL4 ; + skos:exactMatch HGNC:21559, + HGNC_symbol:TSPYL4 ; biolink:category biolink:Gene . OMIM:619587 a owl:Class ; @@ -369194,7 +385345,8 @@ OMIM:619587 a owl:Class ; "zinc finger protein 629" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23361 ; - skos:exactMatch HGNC_symbol:ZNF629 ; + skos:exactMatch HGNC:29008, + HGNC_symbol:ZNF629 ; biolink:category biolink:Gene . OMIM:619588 a owl:Class ; @@ -369214,7 +385366,8 @@ OMIM:619589 a owl:Class ; "lncrna bancr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100885775 ; - skos:exactMatch HGNC_symbol:BANCR ; + skos:exactMatch HGNC:43877, + HGNC_symbol:BANCR ; biolink:category biolink:Gene . OMIM:619590 a owl:Class ; @@ -369224,7 +385377,8 @@ OMIM:619590 a owl:Class ; "plasticity-related gene 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54886 ; - skos:exactMatch HGNC_symbol:PLPPR1 ; + skos:exactMatch HGNC:25993, + HGNC_symbol:PLPPR1 ; biolink:category biolink:Gene . OMIM:619591 a owl:Class ; @@ -369234,7 +385388,8 @@ OMIM:619591 a owl:Class ; "plasticity-related gene 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64748 ; - skos:exactMatch HGNC_symbol:PLPPR2 ; + skos:exactMatch HGNC:29566, + HGNC_symbol:PLPPR2 ; biolink:category biolink:Gene . OMIM:619594 a owl:Class ; @@ -369258,7 +385413,8 @@ OMIM:619596 a owl:Class ; "ocia domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54940 ; - skos:exactMatch HGNC_symbol:OCIAD1 ; + skos:exactMatch HGNC:16074, + HGNC_symbol:OCIAD1 ; biolink:category biolink:Gene . OMIM:619597 a owl:Class ; @@ -369268,7 +385424,8 @@ OMIM:619597 a owl:Class ; "trna selenocysteine 1-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54952 ; - skos:exactMatch HGNC_symbol:TRNAU1AP ; + skos:exactMatch HGNC:30813, + HGNC_symbol:TRNAU1AP ; biolink:category biolink:Gene . OMIM:619598 a owl:Class ; @@ -369293,7 +385450,8 @@ OMIM:619600 a owl:Class ; "chromosome 9 opening reading frame 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84909 ; - skos:exactMatch HGNC_symbol:AOPEP ; + skos:exactMatch HGNC:1361, + HGNC_symbol:AOPEP ; biolink:category biolink:Gene . OMIM:619601 a owl:Class ; @@ -369302,7 +385460,8 @@ OMIM:619601 a owl:Class ; "bcdin3 domain-containing RNA methyltransferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:144233 ; - skos:exactMatch HGNC_symbol:BCDIN3D ; + skos:exactMatch HGNC:27050, + HGNC_symbol:BCDIN3D ; biolink:category biolink:Gene . OMIM:619602 a owl:Class ; @@ -369317,7 +385476,8 @@ OMIM:619604 a owl:Class ; "transmembrane protein 92" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:162461 ; - skos:exactMatch HGNC_symbol:TMEM92 ; + skos:exactMatch HGNC:26579, + HGNC_symbol:TMEM92 ; biolink:category biolink:Gene . OMIM:619605 a owl:Class ; @@ -369340,7 +385500,8 @@ OMIM:619610 a owl:Class ; "kinesin family member 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124602 ; - skos:exactMatch HGNC_symbol:KIF19 ; + skos:exactMatch HGNC:26735, + HGNC_symbol:KIF19 ; biolink:category biolink:Gene . OMIM:619612 a owl:Class ; @@ -369350,7 +385511,8 @@ OMIM:619612 a owl:Class ; "bap29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55973 ; - skos:exactMatch HGNC_symbol:BCAP29 ; + skos:exactMatch HGNC:24131, + HGNC_symbol:BCAP29 ; biolink:category biolink:Gene . OMIM:619613 a owl:Class ; @@ -369374,7 +385536,8 @@ OMIM:619617 a owl:Class ; "ef-hand calcium-binding domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84288 ; - skos:exactMatch HGNC_symbol:EFCAB2 ; + skos:exactMatch HGNC:28166, + HGNC_symbol:EFCAB2 ; biolink:category biolink:Gene . OMIM:619618 a owl:Class ; @@ -369384,7 +385547,8 @@ OMIM:619618 a owl:Class ; "ly6/plaur domain-containing protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284348 ; - skos:exactMatch HGNC_symbol:LYPD5 ; + skos:exactMatch HGNC:26397, + HGNC_symbol:LYPD5 ; biolink:category biolink:Gene . OMIM:619619 a owl:Class ; @@ -369393,7 +385557,8 @@ OMIM:619619 a owl:Class ; "serpin family a, member 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:256394 ; - skos:exactMatch HGNC_symbol:SERPINA11 ; + skos:exactMatch HGNC:19193, + HGNC_symbol:SERPINA11 ; biolink:category biolink:Gene . OMIM:619620 a owl:Class ; @@ -369403,7 +385568,8 @@ OMIM:619620 a owl:Class ; "chymotrypsinogen b2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440387 ; - skos:exactMatch HGNC_symbol:CTRB2 ; + skos:exactMatch HGNC:2522, + HGNC_symbol:CTRB2 ; biolink:category biolink:Gene . OMIM:619622 a owl:Class ; @@ -369413,7 +385579,8 @@ OMIM:619622 a owl:Class ; "lymphocyte transmembrane adaptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54900 ; - skos:exactMatch HGNC_symbol:LAX1 ; + skos:exactMatch HGNC:26005, + HGNC_symbol:LAX1 ; biolink:category biolink:Gene . OMIM:619623 a owl:Class ; @@ -369423,7 +385590,8 @@ OMIM:619623 a owl:Class ; "neuronal leucine-rich repeat protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57633 ; - skos:exactMatch HGNC_symbol:LRRN1 ; + skos:exactMatch HGNC:20980, + HGNC_symbol:LRRN1 ; biolink:category biolink:Gene . OMIM:619624 a owl:Class ; @@ -369432,7 +385600,8 @@ OMIM:619624 a owl:Class ; "lemur tyrosine kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:114783 ; - skos:exactMatch HGNC_symbol:LMTK3 ; + skos:exactMatch HGNC:19295, + HGNC_symbol:LMTK3 ; biolink:category biolink:Gene . OMIM:619625 a owl:Class ; @@ -369441,7 +385610,8 @@ OMIM:619625 a owl:Class ; "chromosome 11 open reading frame 58" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10944 ; - skos:exactMatch HGNC_symbol:C11orf58 ; + skos:exactMatch HGNC:16990, + HGNC_symbol:C11orf58 ; biolink:category biolink:Gene . OMIM:619626 a owl:Class ; @@ -369450,7 +385620,8 @@ OMIM:619626 a owl:Class ; "methyltransferase 4, n6-adenosine" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64863 ; - skos:exactMatch HGNC_symbol:METTL4 ; + skos:exactMatch HGNC:24726, + HGNC_symbol:METTL4 ; biolink:category biolink:Gene . OMIM:619627 a owl:Class ; @@ -369462,7 +385633,8 @@ OMIM:619627 a owl:Class ; "p200a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54497 ; - skos:exactMatch HGNC_symbol:HEATR5B ; + skos:exactMatch HGNC:29273, + HGNC_symbol:HEATR5B ; biolink:category biolink:Gene . OMIM:619628 a owl:Class ; @@ -369471,7 +385643,8 @@ OMIM:619628 a owl:Class ; "aftiphilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54812 ; - skos:exactMatch HGNC_symbol:AFTPH ; + skos:exactMatch HGNC:25951, + HGNC_symbol:AFTPH ; biolink:category biolink:Gene . OMIM:619629 a owl:Class ; @@ -369482,7 +385655,8 @@ OMIM:619629 a owl:Class ; "small nuclear ribonucleoprotein u4/u6.u5, subunit 27" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11017 ; - skos:exactMatch HGNC_symbol:SNRNP27 ; + skos:exactMatch HGNC:30240, + HGNC_symbol:SNRNP27 ; biolink:category biolink:Gene . OMIM:619630 a owl:Class ; @@ -369501,7 +385675,8 @@ OMIM:619631 a owl:Class ; "small nuclear ribonucleoprotein u11/u12, subunit 35" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11066 ; - skos:exactMatch HGNC_symbol:SNRNP35 ; + skos:exactMatch HGNC:30852, + HGNC_symbol:SNRNP35 ; biolink:category biolink:Gene . OMIM:619633 a owl:Class ; @@ -369510,7 +385685,8 @@ OMIM:619633 a owl:Class ; "ocia domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:132299 ; - skos:exactMatch HGNC_symbol:OCIAD2 ; + skos:exactMatch HGNC:28685, + HGNC_symbol:OCIAD2 ; biolink:category biolink:Gene . OMIM:619634 a owl:Class ; @@ -369521,7 +385697,8 @@ OMIM:619634 a owl:Class ; "qri7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64172 ; - skos:exactMatch HGNC_symbol:OSGEPL1 ; + skos:exactMatch HGNC:23075, + HGNC_symbol:OSGEPL1 ; biolink:category biolink:Gene . OMIM:619635 a owl:Class ; @@ -369533,7 +385710,8 @@ OMIM:619635 a owl:Class ; "zinc finger fyve domain-containing protein 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84936 ; - skos:exactMatch HGNC_symbol:ZFYVE19 ; + skos:exactMatch HGNC:20758, + HGNC_symbol:ZFYVE19 ; biolink:category biolink:Gene . OMIM:619636 a owl:Class ; @@ -369558,7 +385736,8 @@ OMIM:619640 a owl:Class ; "lysine demethylase 7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80853 ; - skos:exactMatch HGNC_symbol:KDM7A ; + skos:exactMatch HGNC:22224, + HGNC_symbol:KDM7A ; biolink:category biolink:Gene . OMIM:619642 a owl:Class ; @@ -369569,7 +385748,8 @@ OMIM:619642 a owl:Class ; "transmembrane p24 trafficking protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10959 ; - skos:exactMatch HGNC_symbol:TMED2 ; + skos:exactMatch HGNC:16996, + HGNC_symbol:TMED2 ; biolink:category biolink:Gene . OMIM:619647 a owl:Class ; @@ -369593,7 +385773,8 @@ OMIM:619650 a owl:Class ; "vlp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:391104 ; - skos:exactMatch HGNC_symbol:VHLL ; + skos:exactMatch HGNC:30666, + HGNC_symbol:VHLL ; biolink:category biolink:Gene . OMIM:619654 a owl:Class ; @@ -369603,7 +385784,8 @@ OMIM:619654 a owl:Class ; "chromosome 3 open reading frame 33" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285315 ; - skos:exactMatch HGNC_symbol:C3orf33 ; + skos:exactMatch HGNC:26434, + HGNC_symbol:C3orf33 ; biolink:category biolink:Gene . OMIM:619655 a owl:Class ; @@ -369614,7 +385796,8 @@ OMIM:619655 a owl:Class ; "ribosomal protein l10-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:140801 ; - skos:exactMatch HGNC_symbol:RPL10L ; + skos:exactMatch HGNC:17976, + HGNC_symbol:RPL10L ; biolink:category biolink:Gene . OMIM:619657 a owl:Class ; @@ -369630,7 +385813,8 @@ OMIM:619659 a owl:Class ; "synaptosome-associated protein 47" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:116841 ; - skos:exactMatch HGNC_symbol:SNAP47 ; + skos:exactMatch HGNC:30669, + HGNC_symbol:SNAP47 ; biolink:category biolink:Gene . OMIM:619660 a owl:Class ; @@ -369640,7 +385824,8 @@ OMIM:619660 a owl:Class ; "bfk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:440603 ; - skos:exactMatch HGNC_symbol:BCL2L15 ; + skos:exactMatch HGNC:33624, + HGNC_symbol:BCL2L15 ; biolink:category biolink:Gene . OMIM:619661 a owl:Class ; @@ -369658,7 +385843,8 @@ OMIM:619663 a owl:Class ; "utp25 small subunit processor component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27042 ; - skos:exactMatch HGNC_symbol:UTP25 ; + skos:exactMatch HGNC:28440, + HGNC_symbol:UTP25 ; biolink:category biolink:Gene . OMIM:619664 a owl:Class ; @@ -369669,7 +385855,8 @@ OMIM:619664 a owl:Class ; "kiaa1672" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64800 ; - skos:exactMatch HGNC_symbol:EFCAB6 ; + skos:exactMatch HGNC:24204, + HGNC_symbol:EFCAB6 ; biolink:category biolink:Gene . OMIM:619666 a owl:Class ; @@ -369678,7 +385865,8 @@ OMIM:619666 a owl:Class ; "villin-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50853 ; - skos:exactMatch HGNC_symbol:VILL ; + skos:exactMatch HGNC:30906, + HGNC_symbol:VILL ; biolink:category biolink:Gene . OMIM:619667 a owl:Class ; @@ -369689,7 +385877,8 @@ OMIM:619667 a owl:Class ; "solute carrier family 35, member f6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54978 ; - skos:exactMatch HGNC_symbol:SLC35F6 ; + skos:exactMatch HGNC:26055, + HGNC_symbol:SLC35F6 ; biolink:category biolink:Gene . OMIM:619668 a owl:Class ; @@ -369698,7 +385887,8 @@ OMIM:619668 a owl:Class ; "deoxyribose-phosphate aldolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51071 ; - skos:exactMatch HGNC_symbol:DERA ; + skos:exactMatch HGNC:24269, + HGNC_symbol:DERA ; biolink:category biolink:Gene . OMIM:619669 a owl:Class ; @@ -369707,7 +385897,8 @@ OMIM:619669 a owl:Class ; "piercer of microtubule wall 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145788 ; - skos:exactMatch HGNC_symbol:PIERCE2 ; + skos:exactMatch HGNC:44654, + HGNC_symbol:PIERCE2 ; biolink:category biolink:Gene . OMIM:619670 a owl:Class ; @@ -369719,7 +385910,8 @@ OMIM:619670 a owl:Class ; "family with sequence similarity 150, member a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:389658 ; - skos:exactMatch HGNC_symbol:ALKAL1 ; + skos:exactMatch HGNC:33775, + HGNC_symbol:ALKAL1 ; biolink:category biolink:Gene . OMIM:619671 a owl:Class ; @@ -369731,7 +385923,8 @@ OMIM:619671 a owl:Class ; "family with sequence similarity 150, member B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285016 ; - skos:exactMatch HGNC_symbol:ALKAL2 ; + skos:exactMatch HGNC:27683, + HGNC_symbol:ALKAL2 ; biolink:category biolink:Gene . OMIM:619673 a owl:Class ; @@ -369749,7 +385942,8 @@ OMIM:619674 a owl:Class ; "protease-associated domain-containing protein, 21-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84279 ; - skos:exactMatch HGNC_symbol:PRADC1 ; + skos:exactMatch HGNC:16047, + HGNC_symbol:PRADC1 ; biolink:category biolink:Gene . OMIM:619675 a owl:Class ; @@ -369761,7 +385955,8 @@ OMIM:619675 a owl:Class ; "ubcm4-interacting protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22888 ; - skos:exactMatch HGNC_symbol:UBOX5 ; + skos:exactMatch HGNC:17777, + HGNC_symbol:UBOX5 ; biolink:category biolink:Gene . OMIM:619676 a owl:Class ; @@ -369771,7 +385966,8 @@ OMIM:619676 a owl:Class ; "testis-specific conserved gene, 21-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:200523 ; - skos:exactMatch HGNC_symbol:TEX37 ; + skos:exactMatch HGNC:26341, + HGNC_symbol:TEX37 ; biolink:category biolink:Gene . OMIM:619677 a owl:Class ; @@ -369781,7 +385977,8 @@ OMIM:619677 a owl:Class ; "claudin domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56650 ; - skos:exactMatch HGNC_symbol:CLDND1 ; + skos:exactMatch HGNC:1322, + HGNC_symbol:CLDND1 ; biolink:category biolink:Gene . OMIM:619678 a owl:Class ; @@ -369790,7 +385987,8 @@ OMIM:619678 a owl:Class ; "chromosome 22 open reading frame 23" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84645 ; - skos:exactMatch HGNC_symbol:C22orf23 ; + skos:exactMatch HGNC:18589, + HGNC_symbol:C22orf23 ; biolink:category biolink:Gene . OMIM:619679 a owl:Class ; @@ -369800,7 +385998,8 @@ OMIM:619679 a owl:Class ; "tssk6-activating cochaperone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128229 ; - skos:exactMatch HGNC_symbol:TSACC ; + skos:exactMatch HGNC:30636, + HGNC_symbol:TSACC ; biolink:category biolink:Gene . OMIM:619682 a owl:Class ; @@ -369810,7 +386009,8 @@ OMIM:619682 a owl:Class ; "apoptosis-related protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51374 ; - skos:exactMatch HGNC_symbol:ATRAID ; + skos:exactMatch HGNC:24090, + HGNC_symbol:ATRAID ; biolink:category biolink:Gene . OMIM:619683 a owl:Class ; @@ -369820,7 +386020,8 @@ OMIM:619683 a owl:Class ; "zetin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54836 ; - skos:exactMatch HGNC_symbol:BSPRY ; + skos:exactMatch HGNC:18232, + HGNC_symbol:BSPRY ; biolink:category biolink:Gene . OMIM:619684 a owl:Class ; @@ -369831,7 +386032,8 @@ OMIM:619684 a owl:Class ; "ovary-specific acidic protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84709 ; - skos:exactMatch HGNC_symbol:MGARP ; + skos:exactMatch HGNC:29969, + HGNC_symbol:MGARP ; biolink:category biolink:Gene . OMIM:619687 a owl:Class ; @@ -369861,7 +386063,8 @@ OMIM:619700 a owl:Class ; "chromosome 1 open reading frame 127" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148345 ; - skos:exactMatch HGNC_symbol:C1orf127 ; + skos:exactMatch HGNC:26730, + HGNC_symbol:C1orf127 ; biolink:category biolink:Gene . OMIM:619703 a owl:Class ; @@ -369873,7 +386076,8 @@ OMIM:619703 a owl:Class ; "leishmanolysin-like peptidase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:100128908 ; - skos:exactMatch HGNC_symbol:CIROP ; + skos:exactMatch HGNC:53647, + HGNC_symbol:CIROP ; biolink:category biolink:Gene . OMIM:619704 a owl:Class ; @@ -369884,7 +386088,8 @@ OMIM:619704 a owl:Class ; "zinc finger ccch domain-containing protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55854 ; - skos:exactMatch HGNC_symbol:ZC3H15 ; + skos:exactMatch HGNC:29528, + HGNC_symbol:ZC3H15 ; biolink:category biolink:Gene . OMIM:619706 a owl:Class ; @@ -369893,7 +386098,8 @@ OMIM:619706 a owl:Class ; "leucine-rich repeat neuronal protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:164312 ; - skos:exactMatch HGNC_symbol:LRRN4 ; + skos:exactMatch HGNC:16208, + HGNC_symbol:LRRN4 ; biolink:category biolink:Gene . OMIM:619708 a owl:Class ; @@ -369910,7 +386116,8 @@ OMIM:619709 a owl:Class ; "kiaa0930 gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23313 ; - skos:exactMatch HGNC_symbol:KIAA0930 ; + skos:exactMatch HGNC:1314, + HGNC_symbol:KIAA0930 ; biolink:category biolink:Gene . OMIM:619710 a owl:Class ; @@ -369921,7 +386128,8 @@ OMIM:619710 a owl:Class ; "kiaa1926" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:404037 ; - skos:exactMatch HGNC_symbol:HAPLN4 ; + skos:exactMatch HGNC:31357, + HGNC_symbol:HAPLN4 ; biolink:category biolink:Gene . OMIM:619711 a owl:Class ; @@ -369932,7 +386140,8 @@ OMIM:619711 a owl:Class ; "immortalization upregulated protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64073 ; - skos:exactMatch HGNC_symbol:C19orf33 ; + skos:exactMatch HGNC:16668, + HGNC_symbol:C19orf33 ; biolink:category biolink:Gene . OMIM:619713 a owl:Class ; @@ -369943,7 +386152,8 @@ OMIM:619713 a owl:Class ; "protocadherin lck" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54825 ; - skos:exactMatch HGNC_symbol:CDHR2 ; + skos:exactMatch HGNC:18231, + HGNC_symbol:CDHR2 ; biolink:category biolink:Gene . OMIM:619714 a owl:Class ; @@ -369959,7 +386169,8 @@ OMIM:619715 a owl:Class ; "wiz zinc finger protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58525 ; - skos:exactMatch HGNC_symbol:WIZ ; + skos:exactMatch HGNC:30917, + HGNC_symbol:WIZ ; biolink:category biolink:Gene . OMIM:619716 a owl:Class ; @@ -369969,7 +386180,8 @@ OMIM:619716 a owl:Class ; "arp8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93973 ; - skos:exactMatch HGNC_symbol:ACTR8 ; + skos:exactMatch HGNC:14672, + HGNC_symbol:ACTR8 ; biolink:category biolink:Gene . OMIM:619722 a owl:Class ; @@ -369981,7 +386193,8 @@ OMIM:619722 a owl:Class ; "transmembrane protein 53" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79639 ; - skos:exactMatch HGNC_symbol:TMEM53 ; + skos:exactMatch HGNC:26186, + HGNC_symbol:TMEM53 ; biolink:category biolink:Gene . OMIM:619723 a owl:Class ; @@ -369991,7 +386204,8 @@ OMIM:619723 a owl:Class ; "serine carboxypeptidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:59342 ; - skos:exactMatch HGNC_symbol:SCPEP1 ; + skos:exactMatch HGNC:29507, + HGNC_symbol:SCPEP1 ; biolink:category biolink:Gene . OMIM:619724 a owl:Class ; @@ -370008,7 +386222,8 @@ OMIM:619726 a owl:Class ; "hyaluronan and proteoglycan link protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60484 ; - skos:exactMatch HGNC_symbol:HAPLN2 ; + skos:exactMatch HGNC:17410, + HGNC_symbol:HAPLN2 ; biolink:category biolink:Gene . OMIM:619728 a owl:Class ; @@ -370018,7 +386233,8 @@ OMIM:619728 a owl:Class ; "alpha/beta-hydrolase 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:63874 ; - skos:exactMatch HGNC_symbol:ABHD4 ; + skos:exactMatch HGNC:20154, + HGNC_symbol:ABHD4 ; biolink:category biolink:Gene . OMIM:619729 a owl:Class ; @@ -370028,7 +386244,8 @@ OMIM:619729 a owl:Class ; "arp6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64431 ; - skos:exactMatch HGNC_symbol:ACTR6 ; + skos:exactMatch HGNC:24025, + HGNC_symbol:ACTR6 ; biolink:category biolink:Gene . OMIM:619730 a owl:Class ; @@ -370038,7 +386255,8 @@ OMIM:619730 a owl:Class ; "arp5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79913 ; - skos:exactMatch HGNC_symbol:ACTR5 ; + skos:exactMatch HGNC:14671, + HGNC_symbol:ACTR5 ; biolink:category biolink:Gene . OMIM:619731 a owl:Class ; @@ -370049,7 +386267,8 @@ OMIM:619731 a owl:Class ; "arp10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55860 ; - skos:exactMatch HGNC_symbol:ACTR10 ; + skos:exactMatch HGNC:17372, + HGNC_symbol:ACTR10 ; biolink:category biolink:Gene . OMIM:619732 a owl:Class ; @@ -370060,7 +386279,8 @@ OMIM:619732 a owl:Class ; "xylp" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92370 ; - skos:exactMatch HGNC_symbol:PXYLP1 ; + skos:exactMatch HGNC:26303, + HGNC_symbol:PXYLP1 ; biolink:category biolink:Gene . OMIM:619734 a owl:Class ; @@ -370071,7 +386291,8 @@ OMIM:619734 a owl:Class ; "upregulated 1n colorectal cancer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54749 ; - skos:exactMatch HGNC_symbol:EPDR1 ; + skos:exactMatch HGNC:17572, + HGNC_symbol:EPDR1 ; biolink:category biolink:Gene . OMIM:619739 a owl:Class ; @@ -370080,7 +386301,8 @@ OMIM:619739 a owl:Class ; "asparagine synthetase domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54529 ; - skos:exactMatch HGNC_symbol:ASNSD1 ; + skos:exactMatch HGNC:24910, + HGNC_symbol:ASNSD1 ; biolink:category biolink:Gene . OMIM:619740 a owl:Class ; @@ -370089,7 +386311,8 @@ OMIM:619740 a owl:Class ; "asnsd1 upstream open reading frame" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:110599588 ; - skos:exactMatch HGNC_symbol:ASDURF ; + skos:exactMatch HGNC:53619, + HGNC_symbol:ASDURF ; biolink:category biolink:Gene . OMIM:619741 a owl:Class ; @@ -370099,7 +386322,8 @@ OMIM:619741 a owl:Class ; "zinc finger, matrin-type 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55954 ; - skos:exactMatch HGNC_symbol:ZMAT5 ; + skos:exactMatch HGNC:28046, + HGNC_symbol:ZMAT5 ; biolink:category biolink:Gene . OMIM:619742 a owl:Class ; @@ -370119,7 +386343,8 @@ OMIM:619744 a owl:Class ; "zinc finger cchc domain-containing protein 17" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51538 ; - skos:exactMatch HGNC_symbol:ZCCHC17 ; + skos:exactMatch HGNC:30246, + HGNC_symbol:ZCCHC17 ; biolink:category biolink:Gene . OMIM:619746 a owl:Class ; @@ -370129,7 +386354,8 @@ OMIM:619746 a owl:Class ; "zinc finger c3hc-type domain-containing protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51530 ; - skos:exactMatch HGNC_symbol:ZC3HC1 ; + skos:exactMatch HGNC:29913, + HGNC_symbol:ZC3HC1 ; biolink:category biolink:Gene . OMIM:619748 a owl:Class ; @@ -370139,7 +386365,8 @@ OMIM:619748 a owl:Class ; "neuronal leucine-rich repeat protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54674 ; - skos:exactMatch HGNC_symbol:LRRN3 ; + skos:exactMatch HGNC:17200, + HGNC_symbol:LRRN3 ; biolink:category biolink:Gene . OMIM:619749 a owl:Class ; @@ -370149,7 +386376,8 @@ OMIM:619749 a owl:Class ; "vezatin, adherens junctions transmembrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55591 ; - skos:exactMatch HGNC_symbol:VEZT ; + skos:exactMatch HGNC:18258, + HGNC_symbol:VEZT ; biolink:category biolink:Gene . OMIM:619750 a owl:Class ; @@ -370173,7 +386401,8 @@ OMIM:619753 a owl:Class ; "pym, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84305 ; - skos:exactMatch HGNC_symbol:PYM1 ; + skos:exactMatch HGNC:30258, + HGNC_symbol:PYM1 ; biolink:category biolink:Gene . OMIM:619754 a owl:Class ; @@ -370182,7 +386411,8 @@ OMIM:619754 a owl:Class ; "yip1 domain family, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:285525 ; - skos:exactMatch HGNC_symbol:YIPF7 ; + skos:exactMatch HGNC:26825, + HGNC_symbol:YIPF7 ; biolink:category biolink:Gene . OMIM:619756 a owl:Class ; @@ -370193,7 +386423,8 @@ OMIM:619756 a owl:Class ; "ubiquitin-conjugating enzyme e2 j2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:118424 ; - skos:exactMatch HGNC_symbol:UBE2J2 ; + skos:exactMatch HGNC:19268, + HGNC_symbol:UBE2J2 ; biolink:category biolink:Gene . OMIM:619757 a owl:Class ; @@ -370202,7 +386433,8 @@ OMIM:619757 a owl:Class ; "ankyrin repeat- and socs box-containing protein 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142685 ; - skos:exactMatch HGNC_symbol:ASB15 ; + skos:exactMatch HGNC:19767, + HGNC_symbol:ASB15 ; biolink:category biolink:Gene . OMIM:619760 a owl:Class ; @@ -370213,7 +386445,8 @@ OMIM:619760 a owl:Class ; "xrcc6-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91419 ; - skos:exactMatch HGNC_symbol:ATP23 ; + skos:exactMatch HGNC:29452, + HGNC_symbol:ATP23 ; biolink:category biolink:Gene . OMIM:619762 a owl:Class ; @@ -370229,7 +386462,8 @@ OMIM:619763 a owl:Class ; "wd and tetratricopeptide repeats protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23038 ; - skos:exactMatch HGNC_symbol:WDTC1 ; + skos:exactMatch HGNC:29175, + HGNC_symbol:WDTC1 ; biolink:category biolink:Gene . OMIM:619764 a owl:Class ; @@ -370249,7 +386483,8 @@ OMIM:619765 a owl:Class ; "crystallin beta-gamma domain-containing protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55057 ; - skos:exactMatch HGNC_symbol:CRYBG2 ; + skos:exactMatch HGNC:17295, + HGNC_symbol:CRYBG2 ; biolink:category biolink:Gene . OMIM:619766 a owl:Class ; @@ -370259,7 +386494,8 @@ OMIM:619766 a owl:Class ; "zap3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56252 ; - skos:exactMatch HGNC_symbol:YLPM1 ; + skos:exactMatch HGNC:17798, + HGNC_symbol:YLPM1 ; biolink:category biolink:Gene . OMIM:619768 a owl:Class ; @@ -370270,7 +386506,8 @@ OMIM:619768 a owl:Class ; "arrestin, alpha, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:92714 ; - skos:exactMatch HGNC_symbol:ARRDC1 ; + skos:exactMatch HGNC:28633, + HGNC_symbol:ARRDC1 ; biolink:category biolink:Gene . OMIM:619770 a owl:Class ; @@ -370281,7 +386518,8 @@ OMIM:619770 a owl:Class ; "ydjc, e. coli, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:150223 ; - skos:exactMatch HGNC_symbol:YDJC ; + skos:exactMatch HGNC:27158, + HGNC_symbol:YDJC ; biolink:category biolink:Gene . OMIM:619771 a owl:Class ; @@ -370291,7 +386529,8 @@ OMIM:619771 a owl:Class ; "vrk serine/threonine kinase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51231 ; - skos:exactMatch HGNC_symbol:VRK3 ; + skos:exactMatch HGNC:18996, + HGNC_symbol:VRK3 ; biolink:category biolink:Gene . OMIM:619772 a owl:Class ; @@ -370300,7 +386539,8 @@ OMIM:619772 a owl:Class ; "proteasomal atpase-associated factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80227 ; - skos:exactMatch HGNC_symbol:PAAF1 ; + skos:exactMatch HGNC:25687, + HGNC_symbol:PAAF1 ; biolink:category biolink:Gene . OMIM:619773 a owl:Class ; @@ -370320,7 +386560,8 @@ OMIM:619776 a owl:Class ; "catsper-tau" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:151254 ; - skos:exactMatch HGNC_symbol:C2CD6 ; + skos:exactMatch HGNC:14438, + HGNC_symbol:C2CD6 ; biolink:category biolink:Gene . OMIM:619778 a owl:Class ; @@ -370330,7 +386571,8 @@ OMIM:619778 a owl:Class ; "several ankyrin repeat protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:338699 ; - skos:exactMatch HGNC_symbol:ANKRD42 ; + skos:exactMatch HGNC:26752, + HGNC_symbol:ANKRD42 ; biolink:category biolink:Gene . OMIM:619779 a owl:Class ; @@ -370341,7 +386583,8 @@ OMIM:619779 a owl:Class ; "long noncoding RNA afap1as1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84740 ; - skos:exactMatch HGNC_symbol:AFAP1-AS1 ; + skos:exactMatch HGNC:28141, + HGNC_symbol:AFAP1-AS1 ; biolink:category biolink:Gene . OMIM:619782 a owl:Class ; @@ -370351,7 +386594,8 @@ OMIM:619782 a owl:Class ; "sperm acrosome developmental regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402573 ; - skos:exactMatch HGNC_symbol:SPACDR ; + skos:exactMatch HGNC:22135, + HGNC_symbol:SPACDR ; biolink:category biolink:Gene . OMIM:619783 a owl:Class ; @@ -370397,7 +386641,8 @@ OMIM:619788 a owl:Class ; "arrestin domain-containing protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91947 ; - skos:exactMatch HGNC_symbol:ARRDC4 ; + skos:exactMatch HGNC:28087, + HGNC_symbol:ARRDC4 ; biolink:category biolink:Gene . OMIM:619791 a owl:Class ; @@ -370408,7 +386653,8 @@ OMIM:619791 a owl:Class ; "kiaa0715" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23120 ; - skos:exactMatch HGNC_symbol:ATP10B ; + skos:exactMatch HGNC:13543, + HGNC_symbol:ATP10B ; biolink:category biolink:Gene . OMIM:619792 a owl:Class ; @@ -370421,7 +386667,8 @@ OMIM:619792 a owl:Class ; "f1fo-atp synthase f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9551 ; - skos:exactMatch HGNC_symbol:ATP5MF ; + skos:exactMatch HGNC:848, + HGNC_symbol:ATP5MF ; biolink:category biolink:Gene . OMIM:619794 a owl:Class ; @@ -370432,7 +386679,8 @@ OMIM:619794 a owl:Class ; "vwc2-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:402117 ; - skos:exactMatch HGNC_symbol:VWC2L ; + skos:exactMatch HGNC:37203, + HGNC_symbol:VWC2L ; biolink:category biolink:Gene . OMIM:619796 a owl:Class ; @@ -370442,7 +386690,8 @@ OMIM:619796 a owl:Class ; "flagellum-associated protein containing coiled-coil domains 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130540 ; - skos:exactMatch HGNC_symbol:FLACC1 ; + skos:exactMatch HGNC:14439, + HGNC_symbol:FLACC1 ; biolink:category biolink:Gene . OMIM:619798 a owl:Class ; @@ -370452,7 +386701,8 @@ OMIM:619798 a owl:Class ; "new ets-related factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1998 ; - skos:exactMatch HGNC_symbol:ELF2 ; + skos:exactMatch HGNC:3317, + HGNC_symbol:ELF2 ; biolink:category biolink:Gene . OMIM:619800 a owl:Class ; @@ -370462,7 +386712,8 @@ OMIM:619800 a owl:Class ; "kiaa0194" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22993 ; - skos:exactMatch HGNC_symbol:HMGXB3 ; + skos:exactMatch HGNC:28982, + HGNC_symbol:HMGXB3 ; biolink:category biolink:Gene . OMIM:619801 a owl:Class ; @@ -370475,7 +386726,8 @@ OMIM:619801 a owl:Class ; "rpc25, s. cerevisiae, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:171568 ; - skos:exactMatch HGNC_symbol:POLR3H ; + skos:exactMatch HGNC:30349, + HGNC_symbol:POLR3H ; biolink:category biolink:Gene . OMIM:619804 a owl:Class ; @@ -370492,7 +386744,8 @@ OMIM:619807 a owl:Class ; "myosin-binding protein h-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:343263 ; - skos:exactMatch HGNC_symbol:MYBPHL ; + skos:exactMatch HGNC:30434, + HGNC_symbol:MYBPHL ; biolink:category biolink:Gene . OMIM:619808 a owl:Class ; @@ -370510,7 +386763,8 @@ OMIM:619809 a owl:Class ; "uridine diphosphate glycosyltransferase 2 family, member a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:574537 ; - skos:exactMatch HGNC_symbol:UGT2A2 ; + skos:exactMatch HGNC:28183, + HGNC_symbol:UGT2A2 ; biolink:category biolink:Gene . OMIM:619811 a owl:Class ; @@ -370522,7 +386776,8 @@ OMIM:619811 a owl:Class ; "uhrf1bp-like protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23074 ; - skos:exactMatch HGNC_symbol:UHRF1BP1L ; + skos:exactMatch HGNC:29102, + HGNC_symbol:UHRF1BP1L ; biolink:category biolink:Gene . OMIM:619814 a owl:Class ; @@ -370540,7 +386795,8 @@ OMIM:619815 a owl:Class ; "kiaa1487" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57205 ; - skos:exactMatch HGNC_symbol:ATP10D ; + skos:exactMatch HGNC:13549, + HGNC_symbol:ATP10D ; biolink:category biolink:Gene . OMIM:619816 a owl:Class ; @@ -370559,7 +386815,8 @@ OMIM:619818 a owl:Class ; "elongation factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84337 ; - skos:exactMatch HGNC_symbol:ELOF1 ; + skos:exactMatch HGNC:28691, + HGNC_symbol:ELOF1 ; biolink:category biolink:Gene . OMIM:619819 a owl:Class ; @@ -370568,7 +386825,8 @@ OMIM:619819 a owl:Class ; "zinc finger ccch domain-containing protein 7a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:29066 ; - skos:exactMatch HGNC_symbol:ZC3H7A ; + skos:exactMatch HGNC:30959, + HGNC_symbol:ZC3H7A ; biolink:category biolink:Gene . OMIM:619820 a owl:Class ; @@ -370578,7 +386836,8 @@ OMIM:619820 a owl:Class ; "atonal, drosophila, homolog of, 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84913 ; - skos:exactMatch HGNC_symbol:ATOH8 ; + skos:exactMatch HGNC:24126, + HGNC_symbol:ATOH8 ; biolink:category biolink:Gene . OMIM:619821 a owl:Class ; @@ -370587,7 +386846,8 @@ OMIM:619821 a owl:Class ; "endonuclease 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284131 ; - skos:exactMatch HGNC_symbol:ENDOV ; + skos:exactMatch HGNC:26640, + HGNC_symbol:ENDOV ; biolink:category biolink:Gene . OMIM:619822 a owl:Class ; @@ -370597,7 +386857,8 @@ OMIM:619822 a owl:Class ; "bcl2-like 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23786 ; - skos:exactMatch HGNC_symbol:BCL2L13 ; + skos:exactMatch HGNC:17164, + HGNC_symbol:BCL2L13 ; biolink:category biolink:Gene . OMIM:619823 a owl:Class ; @@ -370608,7 +386869,8 @@ OMIM:619823 a owl:Class ; "ssp29" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10541 ; - skos:exactMatch HGNC_symbol:ANP32B ; + skos:exactMatch HGNC:16677, + HGNC_symbol:ANP32B ; biolink:category biolink:Gene . OMIM:619829 a owl:Class ; @@ -370618,7 +386880,8 @@ OMIM:619829 a owl:Class ; "kiaa1505" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57639 ; - skos:exactMatch HGNC_symbol:CCDC146 ; + skos:exactMatch HGNC:29296, + HGNC_symbol:CCDC146 ; biolink:category biolink:Gene . OMIM:619830 a owl:Class ; @@ -370629,13 +386892,14 @@ OMIM:619830 a owl:Class ; "hlx1, zebrafish, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:120237 ; - skos:exactMatch HGNC_symbol:DBX1 ; + skos:exactMatch HGNC:33185, + HGNC_symbol:DBX1 ; biolink:category biolink:Gene . OMIM:619832 a owl:Class ; - rdfs:label "auditory neuropathy, autosomal dominant 2" ; - oboInOwl:hasExactSynonym "AUNA2", - "auditory neuropathy, autosomal dominant 2" ; + rdfs:label "auditory neuropathy, autosomal dominant 3" ; + oboInOwl:hasExactSynonym "AUNA3", + "auditory neuropathy, autosomal dominant 3" ; biolink:category biolink:Disease . OMIM:619834 a owl:Class ; @@ -370645,10 +386909,26 @@ OMIM:619834 a owl:Class ; rdfs:subClassOf OMIMPS:233300 ; biolink:category biolink:Disease . -NCBITaxon:9606 a owl:Class ; - rdfs:label "Homo sapiens" . +OMIM:619835 a owl:Class ; + rdfs:label "3-methylglutaconic aciduria, iia 7a" ; + oboInOwl:hasExactSynonym "3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant", + "3-methylglutaconic aciduria, iia 7a", + "MGCA7A" ; + biolink:category biolink:Disease . -oboInOwl:hasSynonymType a owl:AnnotationProperty . +OMIM:619837 a owl:Class ; + rdfs:label "MORN5" ; + oboInOwl:hasExactSynonym "MORN5", + "morn repeat-containing protein 5" ; + rdfs:subClassOf SO:0000704 ; + biolink:category biolink:Gene . + +OMIM:619839 a owl:Class ; + rdfs:label "SNX31" ; + oboInOwl:hasExactSynonym "SNX31", + "sorting nexin 31" ; + rdfs:subClassOf SO:0000704 ; + biolink:category biolink:Gene . NCBIGene:100009675 RO:0002200 OMIM:611107 . @@ -372822,12 +389102,12 @@ OMIM:100100 a owl:Class ; PMID:6454342, PMID:7070906, PMID:7118560 ; - oboInOwl:hasDbXref UMLS:C0033770, - ORPHA:2970 ; oboInOwl:hasExactSynonym "PBS", "abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism", "eagle-barrett syndrome", "prune belly syndrome" ; + skos:exactMatch UMLS:C0033770, + ORPHA:2970 ; biolink:category biolink:Disease . OMIM:100740 a owl:Class ; @@ -372854,14 +389134,15 @@ OMIM:100740 a owl:Class ; PMID:8488842 ; RO:0002525 CHR:9606chr7q22.1 ; RO:0003303 OMIM:112100 ; - oboInOwl:hasDbXref UMLS:C1412122 ; oboInOwl:hasExactSynonym "ACHE", "acetylcholine acetylhydrolase", "acetylcholinesterase", "yt" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:43 ; - skos:exactMatch HGNC_symbol:ACHE ; + skos:exactMatch UMLS:C1412122, + HGNC:108, + HGNC_symbol:ACHE ; biolink:category biolink:Gene . OMIM:101400 a owl:Class ; @@ -372899,9 +389180,6 @@ OMIM:101400 a owl:Class ; PMID:9585583, PMID:9792855, PMID:9792856 ; - oboInOwl:hasDbXref UMLS:C0175699, - UMLS:C1863370, - UMLS:C1863371 ; oboInOwl:hasExactSynonym "SCS", "acrocephalosyndactyly, iia 3", "acrocephaly, skull asymmetry, and mild syndactyly", @@ -372910,6 +389188,9 @@ OMIM:101400 a owl:Class ; "chotzen syndrome", "saethre-chotzen syndrome", "saethre-chotzen syndrome with eyelid anomalies" ; + skos:exactMatch UMLS:C0175699, + UMLS:C1863370, + UMLS:C1863371 ; biolink:category biolink:Disease . OMIM:102300 a owl:Class ; @@ -372950,12 +389231,12 @@ OMIM:102300 a owl:Class ; PMID:8723377, PMID:8813218 ; RO:0002525 CHR:9606chr12q12-q21 ; - oboInOwl:hasDbXref UMLS:C1876177 ; oboInOwl:hasExactSynonym "RLS1", "acromelalgia, hereditary", "ekbom syndrome", "restless legs syndrome, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:102300 ; + skos:exactMatch UMLS:C1876177 ; biolink:category biolink:Disease . OMIM:102510 a owl:Class ; @@ -372963,10 +389244,10 @@ OMIM:102510 a owl:Class ; IAO:0000142 PMID:14985386, PMID:7677153 ; RO:0002525 CHR:9606chr2q36 ; - oboInOwl:hasDbXref UMLS:C1863307 ; oboInOwl:hasExactSynonym "ACRPV", "acropectorovertebral dysplasia", "f syndrome" ; + skos:exactMatch UMLS:C1863307 ; biolink:category biolink:Disease . OMIM:102530 a owl:Class ; @@ -372982,7 +389263,6 @@ OMIM:102530 a owl:Class ; PMID:6380341, PMID:686404, PMID:9207595 ; - oboInOwl:hasDbXref UMLS:C0403825 ; oboInOwl:hasExactSynonym "SPGF6", "acrosome malformation of spermatozoa", "globozoospermia", @@ -372990,6 +389270,7 @@ OMIM:102530 a owl:Class ; "spermatogenic failure 6", "spermatozoa, round-headed" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C0403825 ; biolink:category biolink:Disease . OMIM:102576 a owl:Class ; @@ -373018,14 +389299,15 @@ OMIM:102576 a owl:Class ; PMID:9501322 ; RO:0002525 CHR:9606chr2q24.1 ; RO:0003303 OMIM:135100 ; - oboInOwl:hasDbXref UMLS:C1332012 ; oboInOwl:hasExactSynonym "ACVR1", "activin a receptor, iia 1", "activin a receptor, iia ii-like kinase 2", "activin receptor-like kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:90 ; - skos:exactMatch HGNC_symbol:ACVR1 ; + skos:exactMatch UMLS:C1332012, + HGNC:171, + HGNC_symbol:ACVR1 ; biolink:category biolink:Gene . OMIM:102577 a owl:Class ; @@ -373034,7 +389316,6 @@ OMIM:102577 a owl:Class ; PMID:1351677, PMID:15201901, PMID:7774928 ; - oboInOwl:hasDbXref UMLS:C1419351 ; oboInOwl:hasExactSynonym "RFC4", "activator 1, 37-kd subunit", "replication factor c, 37-kd subunit", @@ -373042,7 +389323,9 @@ OMIM:102577 a owl:Class ; "rfc2, yeast, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5984 ; - skos:exactMatch HGNC_symbol:RFC4 ; + skos:exactMatch UMLS:C1419351, + HGNC:9972, + HGNC_symbol:RFC4 ; biolink:category biolink:Gene . OMIM:102578 a owl:Class ; @@ -373090,15 +389373,16 @@ OMIM:102578 a owl:Class ; PMID:9486655, PMID:9488655 ; RO:0002525 CHR:9606chr15q24.1 ; - oboInOwl:hasDbXref UMLS:C1366903, - UMLS:C3887967 ; oboInOwl:hasExactSynonym "PML", "acute promyelocytic leukemia, inducer of", "myl", "pml/rara fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5371 ; - skos:exactMatch HGNC_symbol:PML ; + skos:exactMatch UMLS:C1366903, + UMLS:C3887967, + HGNC:9113, + HGNC_symbol:PML ; biolink:category biolink:Gene . OMIM:102582 a owl:Class ; @@ -373172,15 +389456,16 @@ OMIM:102582 a owl:Class ; PMID:9388184 ; RO:0002525 CHR:9606chr17q21.2 ; RO:0003303 OMIM:147060 ; - oboInOwl:hasDbXref UMLS:C1367307, - UMLS:C4014795, - UMLS:C4721531 ; oboInOwl:hasExactSynonym "STAT3", "acute-phase response factor", "signal transducer and activator of transcription 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6774 ; - skos:exactMatch HGNC_symbol:STAT3 ; + skos:exactMatch UMLS:C1367307, + UMLS:C4014795, + UMLS:C4721531, + HGNC:11364, + HGNC_symbol:STAT3 ; biolink:category biolink:Gene . OMIM:102610 a owl:Class ; @@ -373218,13 +389503,14 @@ OMIM:102610 a owl:Class ; PMID:9185179 ; RO:0002525 CHR:9606chr1q42.13 ; RO:0003303 OMIM:161800 ; - oboInOwl:hasDbXref UMLS:C1412136 ; oboInOwl:hasExactSynonym "ACTA1", "actin, alpha, skeletal muscle 1", "asma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:58 ; - skos:exactMatch HGNC_symbol:ACTA1 ; + skos:exactMatch UMLS:C1412136, + HGNC:129, + HGNC_symbol:ACTA1 ; biolink:category biolink:Gene . OMIM:102699 a owl:Class ; @@ -373233,10 +389519,11 @@ OMIM:102699 a owl:Class ; PMID:1653762, PMID:1657596, PMID:2156265 ; - oboInOwl:hasDbXref UMLS:C3887914 ; oboInOwl:hasExactSynonym "AAVS1", "adeno-associated virus integration site 1" ; - skos:exactMatch HGNC_symbol:AAVS1 . + skos:exactMatch UMLS:C3887914, + HGNC:22, + HGNC_symbol:AAVS1 . OMIM:102700 a owl:Class ; rdfs:label "severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency" ; @@ -373335,9 +389622,6 @@ OMIM:102700 a owl:Class ; PMID:9758612, PMID:978319, PMID:980079 ; - oboInOwl:hasDbXref UMLS:C0392607, - UMLS:C1863236, - ORPHA:277 ; oboInOwl:hasExactSynonym "ada-scid", "adenosine deaminase deficiency, partial", "partial ada deficiency", @@ -373346,6 +389630,9 @@ OMIM:102700 a owl:Class ; "scid due to ada deficiency, early-onset", "scid due to ada deficiency, late-onset", "severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency" ; + skos:exactMatch UMLS:C0392607, + UMLS:C1863236, + ORPHA:277 ; biolink:category biolink:Disease . OMIM:103050 a owl:Class ; @@ -373366,11 +389653,11 @@ OMIM:103050 a owl:Class ; PMID:6150139, PMID:9266351, PMID:9266401 ; - oboInOwl:hasDbXref UMLS:C0268126 ; oboInOwl:hasExactSynonym "ADSLD", "adenylosuccinase deficiency", "adenylosuccinate lyase deficiency", "adsl deficiency" ; + skos:exactMatch UMLS:C0268126 ; biolink:category biolink:Disease . OMIM:103710 a owl:Class ; @@ -373393,7 +389680,6 @@ OMIM:103710 a owl:Class ; PMID:8460164 ; RO:0002525 CHR:9606chr4q23 ; RO:0003303 OMIM:619151 ; - oboInOwl:hasDbXref UMLS:C1412239 ; oboInOwl:hasExactSynonym "ADH5", "adh, class 3", "alcohol dehydrogenase 5, chi polypeptide", @@ -373403,7 +389689,9 @@ OMIM:103710 a owl:Class ; "s-nitrosoglutathione reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128 ; - skos:exactMatch HGNC_symbol:ADH5 ; + skos:exactMatch UMLS:C1412239, + HGNC:253, + HGNC_symbol:ADH5 ; biolink:category biolink:Gene . OMIM:103880 a owl:Class ; @@ -373417,14 +389705,15 @@ OMIM:103880 a owl:Class ; PMID:2504709, PMID:8244370, PMID:9215310 ; - oboInOwl:hasDbXref UMLS:C1412322 ; oboInOwl:hasExactSynonym "AKR1B1", "aldehyde reductase 1", "aldo-keto reductase family 1, member b1", "aldose reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:231 ; - skos:exactMatch HGNC_symbol:AKR1B1 ; + skos:exactMatch UMLS:C1412322, + HGNC:381, + HGNC_symbol:AKR1B1 ; biolink:category biolink:Gene . OMIM:103900 a owl:Class ; @@ -373450,7 +389739,6 @@ OMIM:103900 a owl:Class ; PMID:8825044, PMID:8964867, PMID:9851772 ; - oboInOwl:hasDbXref UMLS:C1260386 ; oboInOwl:hasExactSynonym "HALD1", "acth-dependent hyperaldosteronism syndrome", "aldosteronism, sensitive to dexamethasone", @@ -373459,6 +389747,7 @@ OMIM:103900 a owl:Class ; "glucocorticoid-suppressible hyperaldosteronism", "hyperaldosteronism, familial, iia 1" ; rdfs:subClassOf OMIMPS:103900 ; + skos:exactMatch UMLS:C1260386 ; biolink:category biolink:Disease . OMIM:104000 a owl:Class ; @@ -373485,12 +389774,12 @@ OMIM:104000 a owl:Class ; PMID:87773, PMID:9520023 ; RO:0002525 CHR:9606chr18p11.3-p11.2 ; - oboInOwl:hasDbXref UMLS:C0263505, - UMLS:C1863094 ; oboInOwl:hasExactSynonym "AA1", "alopecia areata 1", "alopecia universalis" ; rdfs:subClassOf OMIMPS:203655 ; + skos:exactMatch UMLS:C0263505, + UMLS:C1863094 ; biolink:category biolink:Disease . OMIM:104160 a owl:Class ; @@ -373501,14 +389790,15 @@ OMIM:104160 a owl:Class ; PMID:8910335 ; RO:0002525 CHR:9606chr11q12.3 ; RO:0003303 OMIM:600666 ; - oboInOwl:hasDbXref UMLS:C1414965 ; oboInOwl:hasExactSynonym "GANAB", "alpha-glucosidase, neutral, ab form", "glucosidase ii, alpha subunit", "glucosidase, alpha, neutral ab" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:23193 ; - skos:exactMatch HGNC_symbol:GANAB ; + skos:exactMatch UMLS:C1414965, + HGNC:4138, + HGNC_symbol:GANAB ; biolink:category biolink:Gene . OMIM:104219 a owl:Class ; @@ -373523,13 +389813,14 @@ OMIM:104219 a owl:Class ; PMID:8125015, PMID:8183249, PMID:8288218 ; - oboInOwl:hasDbXref UMLS:C1412260 ; oboInOwl:hasExactSynonym "ADRA1D", "alpha-1a-adrenergic receptor, formerly", "alpha-1d-adrenergic receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:146 ; - skos:exactMatch HGNC_symbol:ADRA1D ; + skos:exactMatch UMLS:C1412260, + HGNC:280, + HGNC_symbol:ADRA1D ; biolink:category biolink:Gene . OMIM:104300 a owl:Class ; @@ -373745,16 +390036,16 @@ OMIM:104300 a owl:Class ; PMID:9241262, PMID:9626772, PMID:9653640 ; - oboInOwl:hasDbXref UMLS:C0002395, - UMLS:C1541844, - UMLS:C1863052, - ORPHA:1020 ; oboInOwl:hasExactSynonym "AD1", "alzheimer disease", "alzheimer disease, early-onset, with cerebral amyloid angiopathy", "alzheimer disease, familial, 1", "alzheimer disease, protection against", "presenile and senile dementia" ; + skos:exactMatch UMLS:C0002395, + UMLS:C1541844, + UMLS:C1863052, + ORPHA:1020 ; biolink:category biolink:Disease . OMIM:104640 a owl:Class ; @@ -373768,13 +390059,14 @@ OMIM:104640 a owl:Class ; PMID:3413110, PMID:7590736, PMID:9410906 ; - oboInOwl:hasDbXref UMLS:C1332109 ; oboInOwl:hasExactSynonym "AREG", "amphiregulin", "schwannoma-derived growth factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374 ; - skos:exactMatch HGNC_symbol:AREG ; + skos:exactMatch UMLS:C1332109, + HGNC:651, + HGNC_symbol:AREG ; biolink:category biolink:Gene . OMIM:104776 a owl:Class ; @@ -373784,7 +390076,6 @@ OMIM:104776 a owl:Class ; PMID:7592716, PMID:8020984, PMID:8661100 ; - oboInOwl:hasDbXref UMLS:C1412467 ; oboInOwl:hasExactSynonym "APLP2", "amyloid beta a4 precursor-like protein 2", "amyloid precursor-like protein 2", @@ -373792,7 +390083,9 @@ OMIM:104776 a owl:Class ; "sperm membrane protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:334 ; - skos:exactMatch HGNC_symbol:APLP2 ; + skos:exactMatch UMLS:C1412467, + HGNC:598, + HGNC_symbol:APLP2 ; biolink:category biolink:Gene . OMIM:105120 a owl:Class ; @@ -373817,9 +390110,6 @@ OMIM:105120 a owl:Class ; PMID:7836945, PMID:8395367, PMID:8684801 ; - oboInOwl:hasDbXref UMLS:C0936273, - UMLS:C1622345, - ORPHA:85448 ; oboInOwl:hasExactSynonym "amyloid cranial neuropathy with lattice corneal dystrophy", "amyloidosis 5", "amyloidosis due to mutant gelsolin", @@ -373828,6 +390118,9 @@ OMIM:105120 a owl:Class ; "cerebral amyloid angiopathy, gsn-related", "corneal dystrophy, lattice iia 2", "lattice corneal dystrophy, iia 2" ; + skos:exactMatch UMLS:C0936273, + UMLS:C1622345, + ORPHA:85448 ; biolink:category biolink:Disease . OMIM:105200 a owl:Class ; @@ -373848,13 +390141,13 @@ OMIM:105200 a owl:Class ; PMID:8113408, PMID:8464497, PMID:8639778 ; - oboInOwl:hasDbXref UMLS:C0268389 ; oboInOwl:hasExactSynonym "amyloidosis 8", "amyloidosis, familial renal", "amyloidosis, familial visceral", "amyloidosis, systemic nonneuropathic", "german iia amyloidosis", "ostertag iia amyloidosis" ; + skos:exactMatch UMLS:C0268389 ; biolink:category biolink:Disease . OMIM:105250 a owl:Class ; @@ -373875,7 +390168,6 @@ OMIM:105250 a owl:Class ; PMID:8757765, PMID:9111993, PMID:993396 ; - oboInOwl:hasDbXref UMLS:C4551501 ; oboInOwl:hasExactSynonym "PLCA1", "amyloidosis 9", "amyloidosis, familial cutaneous lichen", @@ -373884,6 +390176,7 @@ OMIM:105250 a owl:Class ; "lichen amyloidosis, familial", "pca" ; rdfs:subClassOf OMIMPS:105250 ; + skos:exactMatch UMLS:C4551501 ; biolink:category biolink:Disease . OMIM:105500 a owl:Class ; @@ -373911,28 +390204,28 @@ OMIM:105500 a owl:Class ; PMID:7936240, PMID:8332906, PMID:8418664 ; - oboInOwl:hasDbXref UMLS:C0543859 ; oboInOwl:hasExactSynonym "als-pdc", "amyotrophic lateral sclerosis-parkinsonism/dementia complex 1", "amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam", "guam disease" ; + skos:exactMatch UMLS:C0543859 ; biolink:category biolink:Disease . OMIM:105563 a owl:Class ; rdfs:label "anal sphincter dysplasia" ; IAO:0000142 PMID:1947952 ; - oboInOwl:hasDbXref UMLS:C1862936 ; oboInOwl:hasExactSynonym "ASDP", - "anal sphincter dysplasia" . + "anal sphincter dysplasia" ; + skos:exactMatch UMLS:C1862936 . OMIM:105580 a owl:Class ; rdfs:label "anal canal carcinoma" ; IAO:0000142 PMID:3570551 ; RO:0002525 CHR:9606chr11q22-qter ; - oboInOwl:hasDbXref UMLS:C0334273, - UMLS:C0563211 ; oboInOwl:hasExactSynonym "anal canal carcinoma", - "cloacogenic carcinoma" . + "cloacogenic carcinoma" ; + skos:exactMatch UMLS:C0334273, + UMLS:C0563211 . OMIM:105600 a owl:Class ; rdfs:label "anemia, congenital dyserythropoietic, iia iiia" ; @@ -373947,7 +390240,6 @@ OMIM:105600 a owl:Class ; PMID:7711721, PMID:8299769, PMID:8500603 ; - oboInOwl:hasDbXref UMLS:C0271934 ; oboInOwl:hasExactSynonym "CDAN3A", "anemia with multinucleated erythroblasts", "anemia, congenital dyserythropoietic, iia 3", @@ -373957,6 +390249,7 @@ OMIM:105600 a owl:Class ; "dyserythropoietic anemia, congenital, iia 3a", "erythroreticulosis, hereditary benign" ; rdfs:subClassOf OMIMPS:224120 ; + skos:exactMatch UMLS:C0271934 ; biolink:category biolink:Disease . OMIM:105800 a owl:Class ; @@ -373998,12 +390291,12 @@ OMIM:105800 a owl:Class ; PMID:9398980 ; RO:0002525 CHR:9606chr7q11.2 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C1862932, - ORPHA:231160 ; oboInOwl:hasExactSynonym "ANIB1", "aneurysm, intracranial berry, 1", "aneurysmal subarachnoid hemorrhage, familial" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C1862932, + ORPHA:231160 ; biolink:category biolink:Disease . OMIM:105830 a owl:Class ; @@ -374130,12 +390423,12 @@ OMIM:105830 a owl:Class ; PMID:9831341, PMID:9949213, PMID:9973277 ; - oboInOwl:hasDbXref UMLS:C0162635, - UMLS:C1412397 ; oboInOwl:hasExactSynonym "AS", "angelman syndrome", "angelman syndrome chromosome region", "happy puppet syndrome, formerly" ; + skos:exactMatch UMLS:C0162635, + UMLS:C1412397 ; biolink:category biolink:Disease . OMIM:106190 a owl:Class ; @@ -374143,11 +390436,11 @@ OMIM:106190 a owl:Class ; IAO:0000142 PMID:2401610, PMID:2401613, PMID:25329695 ; - oboInOwl:hasDbXref UMLS:C1862871, - ORPHA:468666 ; oboInOwl:hasExactSynonym "ANHD", "anhidrosis, isolated, with normal sweat glands", "dann-epstein-sohar syndrome" ; + skos:exactMatch UMLS:C1862871, + ORPHA:468666 ; biolink:category biolink:Disease . OMIM:106210 a owl:Class ; @@ -374216,14 +390509,14 @@ OMIM:106210 a owl:Class ; PMID:8825052, PMID:9138149, PMID:9482572 ; - oboInOwl:hasDbXref UMLS:C0003076, - UMLS:C3805349 ; oboInOwl:hasExactSynonym "AN1", "an", "aniridia 1", "aniridia ii, formerly", "cataract, congenital, with late-onset corneal dystrophy" ; rdfs:subClassOf OMIMPS:106210 ; + skos:exactMatch UMLS:C0003076, + UMLS:C3805349 ; biolink:category biolink:Disease . OMIM:106250 a owl:Class ; @@ -374233,9 +390526,9 @@ OMIM:106250 a owl:Class ; PMID:2277391, PMID:4473200, PMID:5536004 ; - oboInOwl:hasDbXref UMLS:C1862866 ; oboInOwl:hasExactSynonym "AFA", - "ankyloblepharon filiforme adnatum and cleft palate" . + "ankyloblepharon filiforme adnatum and cleft palate" ; + skos:exactMatch UMLS:C1862866 . OMIM:106700 a owl:Class ; rdfs:label "total anomalous pulmonary venous return 1" ; @@ -374249,25 +390542,25 @@ OMIM:106700 a owl:Class ; PMID:7747759, PMID:7847375 ; RO:0002525 CHR:9606chr4q12 ; - oboInOwl:hasDbXref UMLS:C4551904, - UMLS:C4551905 ; oboInOwl:hasExactSynonym "TAPVR1", "anomalous pulmonary venous return", "scimitar anomaly", "scimitar syndrome", "total anomalous pulmonary venous return 1" ; + skos:exactMatch UMLS:C4551904, + UMLS:C4551905 ; biolink:category biolink:Disease . OMIM:107000 a owl:Class ; rdfs:label "nail disorder, nonsyndromic congenital, 6" ; IAO:0000142 PMID:30435097, PMID:5771215 ; - oboInOwl:hasDbXref UMLS:C3275544 ; oboInOwl:hasExactSynonym "NDNC6", "anonychia, partial", "anonychia/hyponychia and onychodystrophy", "nail disorder, nonsyndromic congenital, 6" ; rdfs:subClassOf OMIMPS:161050 ; + skos:exactMatch UMLS:C3275544 ; biolink:category biolink:Disease . OMIM:107200 a owl:Class ; @@ -374281,10 +390574,10 @@ OMIM:107200 a owl:Class ; PMID:5919183, PMID:9568760 ; RO:0002525 CHR:9606chr18p11.23-q12.2 ; - oboInOwl:hasDbXref UMLS:C0393778 ; oboInOwl:hasExactSynonym "ANIC", "anosmia, congenital", "anosmia, isolated congenital" ; + skos:exactMatch UMLS:C0393778 ; biolink:category biolink:Disease . OMIM:107271 a owl:Class ; @@ -374317,7 +390610,6 @@ OMIM:107271 a owl:Class ; PMID:8650192 ; RO:0002525 CHR:9606chr11p13 ; RO:0003303 OMIM:612300 ; - oboInOwl:hasDbXref UMLS:C1413230 ; oboInOwl:hasExactSynonym "CD59", "cd59 antigen", "human leukocyte antigen mic11", @@ -374325,7 +390617,9 @@ OMIM:107271 a owl:Class ; "surface antigen recognized by monoclonal antibody 16.3a5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:966 ; - skos:exactMatch HGNC_symbol:CD59 ; + skos:exactMatch UMLS:C1413230, + HGNC:1689, + HGNC_symbol:CD59 ; biolink:category biolink:Gene . OMIM:107320 a owl:Class ; @@ -374348,9 +390642,9 @@ OMIM:107320 a owl:Class ; PMID:9622223, PMID:9932966 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C2930802 ; oboInOwl:hasExactSynonym "antiphospholipid syndrome, familial", - "lupus anticoagulant, familial" . + "lupus anticoagulant, familial" ; + skos:exactMatch UMLS:C2930802 . OMIM:107410 a owl:Class ; rdfs:label "serpin peptidase inhibitor, clade a, member 2, pseudogene" ; @@ -374362,14 +390656,15 @@ OMIM:107410 a owl:Class ; PMID:7912884, PMID:8381582, PMID:9383284 ; - oboInOwl:hasDbXref UMLS:C3888213 ; oboInOwl:hasExactSynonym "SERPINA2P", "alpha-1-antitrypsin-related gene sequence", "antitrypsin-related protein", "protease inhibitor 1-like", "serpin peptidase inhibitor, clade a, member 2, pseudogene", "serpina2" ; - skos:exactMatch HGNC_symbol:SERPINA2 . + skos:exactMatch UMLS:C3888213, + HGNC:8985, + HGNC_symbol:SERPINA2 . OMIM:107450 a owl:Class ; rdfs:label "IFNAR1" ; @@ -374401,7 +390696,6 @@ OMIM:107450 a owl:Class ; PMID:6317538, PMID:752484, PMID:8181059 ; - oboInOwl:hasDbXref UMLS:C1334081 ; oboInOwl:hasExactSynonym "IFNAR1", "antiviral protein, alpha-type", "antiviral protein, beta-type", @@ -374411,7 +390705,9 @@ OMIM:107450 a owl:Class ; "interferon-alpha, -beta, and -omega receptor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3454 ; - skos:exactMatch HGNC_symbol:IFNAR1 ; + skos:exactMatch UMLS:C1334081, + HGNC:5432, + HGNC_symbol:IFNAR1 ; biolink:category biolink:Gene . OMIM:107480 a owl:Class ; @@ -374443,8 +390739,6 @@ OMIM:107480 a owl:Class ; PMID:8669452, PMID:9072124, PMID:9425907 ; - oboInOwl:hasDbXref UMLS:C1862683, - UMLS:C4551481 ; oboInOwl:hasExactSynonym "TBS1", "anus, imperforate, with hand, foot, and ear anomalies", "deafness, sensorineural, with imperforate anus and thumb anomalies", @@ -374453,6 +390747,8 @@ OMIM:107480 a owl:Class ; "townes-brocks syndrome 1", "townes-brocks-branchiootorenal-like syndrome" ; rdfs:subClassOf OMIMPS:107480 ; + skos:exactMatch UMLS:C1862683, + UMLS:C4551481 ; biolink:category biolink:Disease . OMIM:107748 a owl:Class ; @@ -374478,7 +390774,6 @@ OMIM:107748 a owl:Class ; PMID:8799128, PMID:8942627, PMID:9119221 ; - oboInOwl:hasDbXref UMLS:C1332102 ; oboInOwl:hasExactSynonym "APEX1", "apex nuclease 1", "apurinic endonuclease", @@ -374487,7 +390782,9 @@ OMIM:107748 a owl:Class ; "redox factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:328 ; - skos:exactMatch HGNC_symbol:APEX1 ; + skos:exactMatch UMLS:C1332102, + HGNC:587, + HGNC_symbol:APEX1 ; biolink:category biolink:Gene . OMIM:107776 a owl:Class ; @@ -374522,7 +390819,6 @@ OMIM:107776 a owl:Class ; PMID:9468475 ; RO:0002525 CHR:9606chr7p14.3 ; RO:0003303 OMIM:110450 ; - oboInOwl:hasDbXref UMLS:C1412491 ; oboInOwl:hasExactSynonym "AQP1", "aqp-chip", "aquaporin 1", @@ -374530,7 +390826,9 @@ OMIM:107776 a owl:Class ; "channel-like integral membrane protein, 28-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:358 ; - skos:exactMatch HGNC_symbol:AQP1 ; + skos:exactMatch UMLS:C1412491, + HGNC:633, + HGNC_symbol:AQP1 ; biolink:category biolink:Gene . OMIM:107910 a owl:Class ; @@ -374592,10 +390890,6 @@ OMIM:107910 a owl:Class ; PMID:9718379 ; RO:0002525 CHR:9606chr15q21.2 ; RO:0003303 OMIM:139300 ; - oboInOwl:hasDbXref UMLS:C1366496, - UMLS:C3468042, - UMLS:C3468043, - UMLS:C3468044 ; oboInOwl:hasExactSynonym "CYP19A1", "aromatase", "cyp19a1/cgnl1 fusion gene", @@ -374605,7 +390899,12 @@ OMIM:107910 a owl:Class ; "cytochrome p450, subfamily 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1588 ; - skos:exactMatch HGNC_symbol:CYP19A1 ; + skos:exactMatch UMLS:C1366496, + UMLS:C3468042, + UMLS:C3468043, + UMLS:C3468044, + HGNC:2594, + HGNC_symbol:CYP19A1 ; biolink:category biolink:Gene . OMIM:108120 a owl:Class ; @@ -374631,15 +390930,15 @@ OMIM:108120 a owl:Class ; PMID:8923935, PMID:8923936, PMID:9012416 ; - oboInOwl:hasDbXref UMLS:C0220662, - UMLS:C5193002, - ORPHA:1146 ; oboInOwl:hasExactSynonym "DA1A", "arthrogryposis multiplex congenita, distal, iia 1", "arthrogryposis, distal, iia 1", "arthrogryposis, distal, iia 1a", "arthrogryposis, distal, iia 2b4" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C0220662, + UMLS:C5193002, + ORPHA:1146 ; biolink:category biolink:Disease . OMIM:108355 a owl:Class ; @@ -374660,14 +390959,15 @@ OMIM:108355 a owl:Class ; PMID:8647802, PMID:9569023, PMID:9865697 ; - oboInOwl:hasDbXref UMLS:C1333707 ; oboInOwl:hasExactSynonym "GRB2", "abundant src homology", "ash protein", "growth factor receptor-bound protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2885 ; - skos:exactMatch HGNC_symbol:GRB2 ; + skos:exactMatch UMLS:C1333707, + HGNC:4566, + HGNC_symbol:GRB2 ; biolink:category biolink:Gene . OMIM:108420 a owl:Class ; @@ -374683,11 +390983,11 @@ OMIM:108420 a owl:Class ; PMID:7287009, PMID:7966196 ; RO:0002525 CHR:9606chrChr.1 ; - oboInOwl:hasDbXref UMLS:C1862459 ; oboInOwl:hasExactSynonym "SPGF2", "aspermiogenesis factor", "spermatogenic failure 2" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C1862459 ; biolink:category biolink:Disease . OMIM:108600 a owl:Class ; @@ -374696,10 +390996,10 @@ OMIM:108600 a owl:Class ; PMID:14083222, PMID:15523628, PMID:22958904 ; - oboInOwl:hasDbXref UMLS:C1970107 ; oboInOwl:hasExactSynonym "SPAX1", "spastic ataxia 1, autosomal dominant" ; rdfs:subClassOf OMIMPS:108600 ; + skos:exactMatch UMLS:C1970107 ; biolink:category biolink:Disease . OMIM:108725 a owl:Class ; @@ -374712,10 +391012,10 @@ OMIM:108725 a owl:Class ; PMID:9683593, PMID:9683614 ; RO:0002525 CHR:9606chr19p13.3-p13.2 ; - oboInOwl:hasDbXref UMLS:C1531719 ; oboInOwl:hasExactSynonym "ATHS", "atherogenic lipoprotein phenotype", "atherosclerosis susceptibility" ; + skos:exactMatch UMLS:C1531719 ; biolink:category biolink:Disease . OMIM:108770 a owl:Class ; @@ -374727,11 +391027,11 @@ OMIM:108770 a owl:Class ; PMID:4430108, PMID:4636548, PMID:5347950 ; - oboInOwl:hasDbXref UMLS:C4551959 ; oboInOwl:hasExactSynonym "ATRST1", "atrial cardiomyopathy with heart block", "atrial standstill 1", "cardiomyopathy, familial, with conduction disturbance" ; + skos:exactMatch UMLS:C4551959 ; biolink:category biolink:Disease . OMIM:108800 a owl:Class ; @@ -374746,11 +391046,6 @@ OMIM:108800 a owl:Class ; PMID:70860, PMID:9610535 ; RO:0002525 CHR:9606chr5p ; - oboInOwl:hasDbXref UMLS:C0344735, - UMLS:C1862389, - UMLS:C1862391, - UMLS:C1862392, - UMLS:C1862393 ; oboInOwl:hasExactSynonym "ASD1", "asd", "asd 1", @@ -374759,6 +391054,11 @@ OMIM:108800 a owl:Class ; "atrial septal defect, primum iia", "atrial septal defect, secundum iia" ; rdfs:subClassOf OMIMPS:108800 ; + skos:exactMatch UMLS:C0344735, + UMLS:C1862389, + UMLS:C1862391, + UMLS:C1862392, + UMLS:C1862393 ; biolink:category biolink:Disease . OMIM:108985 a owl:Class ; @@ -374769,13 +391069,13 @@ OMIM:108985 a owl:Class ; PMID:419979, PMID:7315221, PMID:7795606 ; - oboInOwl:hasDbXref UMLS:C1862382, - ORPHA:86813 ; oboInOwl:hasExactSynonym "SCRA", "atrophia areata", "helicoidal peripapillary chorioretinal degeneration", "peripapillary chorioretinal degeneration, icelandic iia", "sveinsson chorioretinal atrophy" ; + skos:exactMatch UMLS:C1862382, + ORPHA:86813 ; biolink:category biolink:Disease . OMIM:109120 a owl:Class ; @@ -374783,10 +391083,10 @@ OMIM:109120 a owl:Class ; IAO:0000142 PMID:1746603, PMID:17486624, PMID:4633364 ; - oboInOwl:hasDbXref UMLS:C1862373 ; oboInOwl:hasExactSynonym "axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities", "iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness", - "lange hauwere syndrome" . + "lange hauwere syndrome" ; + skos:exactMatch UMLS:C1862373 . OMIM:109170 a owl:Class ; rdfs:label "LST1" ; @@ -374796,14 +391096,15 @@ OMIM:109170 a owl:Class ; PMID:3117682, PMID:7590964, PMID:8824804 ; - oboInOwl:hasDbXref UMLS:C1422474 ; oboInOwl:hasExactSynonym "LST1", "b144 protein", "d6s49e", "leukocyte-specific transcript 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7940 ; - skos:exactMatch HGNC_symbol:LST1 ; + skos:exactMatch UMLS:C1422474, + HGNC:14189, + HGNC_symbol:LST1 ; biolink:category biolink:Gene . OMIM:109180 a owl:Class ; @@ -374812,9 +391113,9 @@ OMIM:109180 a owl:Class ; PMID:222542, PMID:222543, PMID:80284 ; - oboInOwl:hasDbXref UMLS:C1412786 ; oboInOwl:hasExactSynonym "BEVI", - "baboon m7 virus integration site" . + "baboon m7 virus integration site" ; + skos:exactMatch UMLS:C1412786 . OMIM:109190 a owl:Class ; rdfs:label "SLC1A5" ; @@ -374829,7 +391130,6 @@ OMIM:109190 a owl:Class ; PMID:6255197, PMID:7506601, PMID:7835902 ; - oboInOwl:hasDbXref UMLS:C1420123 ; oboInOwl:hasExactSynonym "SLC1A5", "baboon m7 virus receptor", "neutral amino acid transporter-like protein", @@ -374838,7 +391138,9 @@ OMIM:109190 a owl:Class ; "solute carrier family 1 (neutral amino acid transporter), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6510 ; - skos:exactMatch HGNC_symbol:SLC1A5 ; + skos:exactMatch UMLS:C1420123, + HGNC:10943, + HGNC_symbol:SLC1A5 ; biolink:category biolink:Gene . OMIM:109200 a owl:Class ; @@ -374853,14 +391155,14 @@ OMIM:109200 a owl:Class ; PMID:9620288 ; RO:0002525 CHR:9606chr3q26 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C0162311, - UMLS:C4049090, - UMLS:C4083212 ; oboInOwl:hasExactSynonym "AGA1", "alopecia, androgenetic, 1", "androgenetic alopecia", "baldness, male pattern" ; rdfs:subClassOf OMIMPS:203655 ; + skos:exactMatch UMLS:C0162311, + UMLS:C4049090, + UMLS:C4083212 ; biolink:category biolink:Disease . OMIM:109350 a owl:Class ; @@ -374870,11 +391172,11 @@ OMIM:109350 a owl:Class ; PMID:11140952, PMID:15014979 ; RO:0002525 CHR:9606chr13q14 ; - oboInOwl:hasDbXref UMLS:C0017168 ; oboInOwl:hasExactSynonym "GER", "gastroesophageal reflux", "gastroesophageal reflux disease", "gastroesophageal reflux, pediatric" ; + skos:exactMatch UMLS:C0017168 ; biolink:category biolink:Disease . OMIM:109543 a owl:Class ; @@ -374883,29 +391185,29 @@ OMIM:109543 a owl:Class ; PMID:8490658, PMID:9205107 ; RO:0002525 CHR:9606chr13q14 ; - oboInOwl:hasDbXref UMLS:C1868683 ; oboInOwl:hasExactSynonym "b-cell malignancy, low-grade", "clls2", "disrupted 1n b-cell malignancy", "leukemia, chronic lymphocytic, b-cell", "leukemia, chronic lymphocytic, susceptibility to, 2" ; + skos:exactMatch UMLS:C1868683 ; biolink:category biolink:Disease . OMIM:109660 a owl:Class ; rdfs:label "beta-amino acids, renal transport of" ; IAO:0000142 PMID:6444856 ; - oboInOwl:hasDbXref UMLS:C1862289 ; oboInOwl:hasExactSynonym "AABT", "beta-amino acids, renal transport of", "taurine renal reabsorption" ; + skos:exactMatch UMLS:C1862289 ; biolink:category biolink:Disease . OMIM:109670 a owl:Class ; rdfs:label "beta-adrenergic stimulation, response to" ; IAO:0000142 PMID:6278485 ; - oboInOwl:hasDbXref UMLS:C1862288 ; oboInOwl:hasExactSynonym "BAS", - "beta-adrenergic stimulation, response to" . + "beta-adrenergic stimulation, response to" ; + skos:exactMatch UMLS:C1862288 . OMIM:109730 a owl:Class ; rdfs:label "aortic valve disease 1" ; @@ -374930,9 +391232,6 @@ OMIM:109730 a owl:Class ; PMID:8109558, PMID:8723060, PMID:9631276 ; - oboInOwl:hasDbXref UMLS:C0149630, - UMLS:C1260873, - UMLS:C3887892 ; oboInOwl:hasExactSynonym "AOVD1", "aortic stenosis, calcific", "aortic valve disease", @@ -374941,14 +391240,17 @@ OMIM:109730 a owl:Class ; "aortic valve, calcification of", "bicuspid aortic valve" ; rdfs:subClassOf OMIMPS:109730 ; + skos:exactMatch UMLS:C0149630, + UMLS:C1260873, + UMLS:C3887892 ; biolink:category biolink:Disease . OMIM:110350 a owl:Class ; rdfs:label "blood group--ahonen" ; IAO:0000142 PMID:4646544 ; - oboInOwl:hasDbXref UMLS:C1862248 ; oboInOwl:hasExactSynonym "AN", "blood group--ahonen" ; + skos:exactMatch UMLS:C1862248 ; biolink:category biolink:Disease . OMIM:110450 a owl:Class ; @@ -374961,12 +391263,12 @@ OMIM:110450 a owl:Class ; PMID:7521882, PMID:857421, PMID:862214 ; - oboInOwl:hasDbXref UMLS:C1292295, - UMLS:C1862554 ; oboInOwl:hasExactSynonym "CO", "blood group, colton system", "colton blood group system", "colton-null phenotype" ; + skos:exactMatch UMLS:C1292295, + UMLS:C1862554 ; biolink:category biolink:Disease . OMIM:110600 a owl:Class ; @@ -374979,13 +391281,14 @@ OMIM:110600 a owl:Class ; PMID:9119374 ; RO:0002525 CHR:9606chr12p12.3 ; RO:0003303 OMIM:616060 ; - oboInOwl:hasDbXref UMLS:C1825087 ; oboInOwl:hasExactSynonym "ART4", "adp-ribosyltransferase 4", "dok1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:420 ; - skos:exactMatch HGNC_symbol:ART4 ; + skos:exactMatch UMLS:C1825087, + HGNC:726, + HGNC_symbol:ART4 ; biolink:category biolink:Gene . OMIM:110800 a owl:Class ; @@ -375001,13 +391304,13 @@ OMIM:110800 a owl:Class ; PMID:9417921, PMID:9915862, PMID:9988682 ; - oboInOwl:hasDbXref UMLS:C0020717, - UMLS:C1292164 ; oboInOwl:hasExactSynonym "Ii", "adult i phenotype", "blood group, 1 system", "i blood group system", "ii blood group system" ; + skos:exactMatch UMLS:C0020717, + UMLS:C1292164 ; biolink:category biolink:Disease . OMIM:110900 a owl:Class ; @@ -375026,14 +391329,14 @@ OMIM:110900 a owl:Class ; PMID:752492, PMID:7849312, PMID:976995 ; - oboInOwl:hasDbXref UMLS:C0022546, - UMLS:C1862225 ; oboInOwl:hasExactSynonym "KEL", "blood group--kell system", "blood group--kell-cellano system", "k(0)", "kell-null", "ko" ; + skos:exactMatch UMLS:C0022546, + UMLS:C1862225 ; biolink:category biolink:Disease . OMIM:111000 a owl:Class ; @@ -375051,10 +391354,10 @@ OMIM:111000 a owl:Class ; PMID:8793793, PMID:8995727, PMID:9215669 ; - oboInOwl:hasDbXref UMLS:C0022645 ; oboInOwl:hasExactSynonym "JK", "blood group, kidd system", "kidd blood group system" ; + skos:exactMatch UMLS:C0022645 ; biolink:category biolink:Disease . OMIM:111200 a owl:Class ; @@ -375065,11 +391368,11 @@ OMIM:111200 a owl:Class ; PMID:2644738, PMID:9166867, PMID:9192786 ; - oboInOwl:hasDbXref UMLS:C0024171, - UMLS:C1862213 ; oboInOwl:hasExactSynonym "LU", "auberger system", "blood group--lutheran system" ; + skos:exactMatch UMLS:C0024171, + UMLS:C1862213 ; biolink:category biolink:Disease . OMIM:111250 a owl:Class ; @@ -375081,18 +391384,18 @@ OMIM:111250 a owl:Class ; PMID:8202485, PMID:8566017, PMID:8639917 ; - oboInOwl:hasDbXref UMLS:C3887952 ; oboInOwl:hasExactSynonym "LW", "blood group system, landsteiner-wiener", "landsteiner-wiener blood group system" ; + skos:exactMatch UMLS:C3887952 ; biolink:category biolink:Disease . OMIM:111380 a owl:Class ; rdfs:label "blood group--ok" ; IAO:0000142 PMID:9130641 ; - oboInOwl:hasDbXref UMLS:C1862209 ; oboInOwl:hasExactSynonym "OK", "blood group--ok" ; + skos:exactMatch UMLS:C1862209 ; biolink:category biolink:Disease . OMIM:111600 a owl:Class ; @@ -375102,9 +391405,9 @@ OMIM:111600 a owl:Class ; PMID:5790273, PMID:6506188, PMID:6679383 ; - oboInOwl:hasDbXref UMLS:C3276339 ; oboInOwl:hasExactSynonym "LAN", "blood group, langereis system" ; + skos:exactMatch UMLS:C3276339 ; biolink:category biolink:Disease . OMIM:111730 a owl:Class ; @@ -375117,14 +391420,15 @@ OMIM:111730 a owl:Class ; PMID:9989502 ; RO:0002525 CHR:9606chr17q21.32 ; RO:0003303 OMIM:615018 ; - oboInOwl:hasDbXref UMLS:C1428349 ; oboInOwl:hasExactSynonym "B4GALNT2", "beta-1,4-n-acetyl-galactosaminyltransferase 2", "ct-galnac transferase", "galgt2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:124872 ; - skos:exactMatch HGNC_symbol:B4GALNT2 ; + skos:exactMatch UMLS:C1428349, + HGNC:24136, + HGNC_symbol:B4GALNT2 ; biolink:category biolink:Gene . OMIM:111750 a owl:Class ; @@ -375138,19 +391442,19 @@ OMIM:111750 a owl:Class ; PMID:7423592, PMID:7998072, PMID:827209 ; - oboInOwl:hasDbXref UMLS:C1292292 ; oboInOwl:hasExactSynonym "SC", "blood group--scianna system", "scianna blood group" ; + skos:exactMatch UMLS:C1292292 ; biolink:category biolink:Disease . OMIM:111800 a owl:Class ; rdfs:label "blood group--stoltzfus system" ; IAO:0000142 PMID:5365757 ; RO:0002525 CHR:9606chr4q28-q31 ; - oboInOwl:hasDbXref UMLS:C1862193 ; oboInOwl:hasExactSynonym "Sf", "blood group--stoltzfus system" ; + skos:exactMatch UMLS:C1862193 ; biolink:category biolink:Disease . OMIM:112100 a owl:Class ; @@ -375161,9 +391465,9 @@ OMIM:112100 a owl:Class ; PMID:2317557, PMID:6035447, PMID:8488842 ; - oboInOwl:hasDbXref UMLS:C1862189 ; oboInOwl:hasExactSynonym "cartwright antigen", "yt blood group antigen" ; + skos:exactMatch UMLS:C1862189 ; biolink:category biolink:Disease . OMIM:112240 a owl:Class ; @@ -375174,11 +391478,11 @@ OMIM:112240 a owl:Class ; PMID:3794889, PMID:8244509, PMID:8591675 ; - oboInOwl:hasDbXref UMLS:C4317154 ; oboInOwl:hasExactSynonym "CLCRP1", "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features", "cole-carpenter syndrome 1" ; rdfs:subClassOf OMIMPS:112240 ; + skos:exactMatch UMLS:C4317154 ; biolink:category biolink:Disease . OMIM:112266 a owl:Class ; @@ -375200,13 +391504,14 @@ OMIM:112266 a owl:Class ; PMID:9417921, PMID:9435314, PMID:9512655 ; - oboInOwl:hasDbXref UMLS:C1332427 ; oboInOwl:hasExactSynonym "BMP6", "bone morphogenetic protein 6", "vg1-related sequence" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:654 ; - skos:exactMatch HGNC_symbol:BMP6 ; + skos:exactMatch UMLS:C1332427, + HGNC:1073, + HGNC_symbol:BMP6 ; biolink:category biolink:Gene . OMIM:112410 a owl:Class ; @@ -375224,12 +391529,12 @@ OMIM:112410 a owl:Class ; PMID:9415685, PMID:9696728, PMID:9930264 ; - oboInOwl:hasDbXref UMLS:C1862170 ; oboInOwl:hasExactSynonym "HTNB", "bilginturan syndrome", "brachydactyly with hypertension", "brachydactyly, iia e, with short stature and hypertension", "hypertension and brachydactyly syndrome" ; + skos:exactMatch UMLS:C1862170 ; biolink:category biolink:Disease . OMIM:112500 a owl:Class ; @@ -375248,10 +391553,10 @@ OMIM:112500 a owl:Class ; PMID:6631421, PMID:8592325, PMID:86881 ; - oboInOwl:hasDbXref UMLS:C1862151 ; oboInOwl:hasExactSynonym "BDA1", "brachydactyly, iia a1", "farabee-type brachydactyly" ; + skos:exactMatch UMLS:C1862151 ; biolink:category biolink:Disease . OMIM:112600 a owl:Class ; @@ -375265,11 +391570,11 @@ OMIM:112600 a owl:Class ; PMID:21357617, PMID:5013866, PMID:7390514 ; - oboInOwl:hasDbXref UMLS:C1832702 ; oboInOwl:hasExactSynonym "BDA2", "brachydactyly, iia a2", "brachymesophalangy 2", "mohr-wriedt iia brachydactyly" ; + skos:exactMatch UMLS:C1832702 ; biolink:category biolink:Disease . OMIM:112800 a owl:Class ; @@ -375277,11 +391582,11 @@ OMIM:112800 a owl:Class ; IAO:0000142 PMID:4325377, PMID:5663738, PMID:8387724 ; - oboInOwl:hasDbXref UMLS:C1862139 ; oboInOwl:hasExactSynonym "BDA4", "brachydactyly, iia a4", "brachymesophalangy 2 and 5", "temtamy iia brachydactyly" ; + skos:exactMatch UMLS:C1862139 ; biolink:category biolink:Disease . OMIM:113620 a owl:Class ; @@ -375309,13 +391614,13 @@ OMIM:113620 a owl:Class ; PMID:8160736, PMID:8832722, PMID:9761567 ; - oboInOwl:hasDbXref UMLS:C0376524 ; oboInOwl:hasExactSynonym "BOFS", "bof syndrome", "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging", "branchiooculofacial syndrome", "hemangiomatous branchial clefts-lip pseudocleft syndrome", "lip pseudocleft-hemangiomatous branchial cyst syndrome" ; + skos:exactMatch UMLS:C0376524 ; biolink:category biolink:Disease . OMIM:113650 a owl:Class ; @@ -375353,11 +391658,11 @@ OMIM:113650 a owl:Class ; PMID:8808282, PMID:9020840, PMID:998578 ; - oboInOwl:hasDbXref UMLS:C4551702 ; oboInOwl:hasExactSynonym "BOR1", "branchiootorenal dysplasia", "branchiootorenal syndrome 1", "melnick-fraser syndrome" ; + skos:exactMatch UMLS:C4551702 ; biolink:category biolink:Disease . OMIM:113710 a owl:Class ; @@ -375376,14 +391681,15 @@ OMIM:113710 a owl:Class ; PMID:8836141, PMID:9050913, PMID:9070946 ; - oboInOwl:hasDbXref UMLS:C1366563 ; oboInOwl:hasExactSynonym "TFF1", "breast cancer estrogen-inducible sequence", "gastrointestinal trefoil protein ps2", "trefoil factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7031 ; - skos:exactMatch HGNC_symbol:TFF1 ; + skos:exactMatch UMLS:C1366563, + HGNC:11755, + HGNC_symbol:TFF1 ; biolink:category biolink:Gene . OMIM:113750 a owl:Class ; @@ -375396,14 +391702,14 @@ OMIM:113750 a owl:Class ; PMID:26491832, PMID:28655738, PMID:29025994 ; - oboInOwl:hasDbXref UMLS:C2676042, - UMLS:C3805375 ; oboInOwl:hasExactSynonym "OCA6", "albinism, oculocutaneous, iia 6", "skin/hair/eye pigmentation 4, fair/dark skin", "skin/hair/eye pigmentation, variation in, 4" ; rdfs:subClassOf OMIMPS:203100, OMIMPS:227220 ; + skos:exactMatch UMLS:C2676042, + UMLS:C3805375 ; biolink:category biolink:Disease . OMIM:113800 a owl:Class ; @@ -375435,8 +391741,6 @@ OMIM:113800 a owl:Class ; PMID:8053700, PMID:935508, PMID:9420534 ; - oboInOwl:hasDbXref UMLS:C0079153, - UMLS:C1862005 ; oboInOwl:hasExactSynonym "EHK", "bullous congenital ichthyosiform erythroderma", "bullous erythroderma ichthyosiformis congenita of brocq", @@ -375444,6 +391748,8 @@ OMIM:113800 a owl:Class ; "epidermolytic hyperkeratosis", "epidermolytic hyperkeratosis, late-onset", "epidermolytic ichthyosis" ; + skos:exactMatch UMLS:C0079153, + UMLS:C1862005 ; biolink:category biolink:Disease . OMIM:113810 a owl:Class ; @@ -375469,9 +391775,6 @@ OMIM:113810 a owl:Class ; PMID:8575775 ; RO:0002525 CHR:9606chr6p12.1 ; RO:0003303 OMIM:615425 ; - oboInOwl:hasDbXref UMLS:C1539312, - UMLS:C3539003, - UMLS:C3809470 ; oboInOwl:hasExactSynonym "DST", "bp230", "bp240", @@ -375480,7 +391783,11 @@ OMIM:113810 a owl:Class ; "dystonin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:667 ; - skos:exactMatch HGNC_symbol:DST ; + skos:exactMatch UMLS:C1539312, + UMLS:C3539003, + UMLS:C3809470, + HGNC:1090, + HGNC_symbol:DST ; biolink:category biolink:Gene . OMIM:113811 a owl:Class ; @@ -375523,14 +391830,15 @@ OMIM:113811 a owl:Class ; PMID:9748270 ; RO:0002525 CHR:9606chr10q25.1 ; RO:0003303 OMIM:122400 ; - oboInOwl:hasDbXref UMLS:C1413577 ; oboInOwl:hasExactSynonym "COL17A1", "bp180", "bullous pemphigoid antigen 2", "collagen, iia xvii, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1308 ; - skos:exactMatch HGNC_symbol:COL17A1 ; + skos:exactMatch UMLS:C1413577, + HGNC:2194, + HGNC_symbol:COL17A1 ; biolink:category biolink:Gene . OMIM:113900 a owl:Class ; @@ -375560,9 +391868,6 @@ OMIM:113900 a owl:Class ; PMID:5451227, PMID:7882468, PMID:897853 ; - oboInOwl:hasDbXref UMLS:C1861983, - UMLS:C1861984, - UMLS:C1879286 ; oboInOwl:hasExactSynonym "PFHB1A", "bundle branch block", "cardiac conduction defect, nonprogressive", @@ -375574,6 +391879,9 @@ OMIM:113900 a owl:Class ; "pfhbia", "progressive familial heart block, iia 1a" ; rdfs:subClassOf OMIMPS:113900 ; + skos:exactMatch UMLS:C1861983, + UMLS:C1861984, + UMLS:C1879286 ; biolink:category biolink:Disease . OMIM:113970 a owl:Class ; @@ -375603,10 +391911,10 @@ OMIM:113970 a owl:Class ; PMID:8220424, PMID:946170, PMID:9765461 ; - oboInOwl:hasDbXref UMLS:C0006413, - ORPHA:543 ; oboInOwl:hasExactSynonym "BL", "burkitt lymphoma" ; + skos:exactMatch UMLS:C0006413, + ORPHA:543 ; biolink:category biolink:Disease . OMIM:114085 a owl:Class ; @@ -375623,7 +391931,6 @@ OMIM:114085 a owl:Class ; PMID:3038891, PMID:7759097, PMID:8276421 ; - oboInOwl:hasDbXref UMLS:C1419782 ; oboInOwl:hasExactSynonym "S100A10", "annexin 2 ligand", "annexin ii, light chain", @@ -375633,7 +391940,9 @@ OMIM:114085 a owl:Class ; "s100 calcium-binding protein a10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6281 ; - skos:exactMatch HGNC_symbol:S100A10 ; + skos:exactMatch UMLS:C1419782, + HGNC:10487, + HGNC_symbol:S100A10 ; biolink:category biolink:Gene . OMIM:114180 a owl:Class ; @@ -375666,15 +391975,16 @@ OMIM:114180 a owl:Class ; PMID:9681195 ; RO:0002525 CHR:9606chr14q32.11 ; RO:0003303 OMIM:614916 ; - oboInOwl:hasDbXref UMLS:C1332659, - UMLS:C3554047, - UMLS:C4015671 ; oboInOwl:hasExactSynonym "CALM1", "calmodulin 1", "phosphorylase kinase, delta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:801 ; - skos:exactMatch HGNC_symbol:CALM1 ; + skos:exactMatch UMLS:C1332659, + UMLS:C3554047, + UMLS:C4015671, + HGNC:1442, + HGNC_symbol:CALM1 ; biolink:category biolink:Gene . OMIM:114200 a owl:Class ; @@ -375686,12 +391996,12 @@ OMIM:114200 a owl:Class ; PMID:5963204, PMID:6195873 ; RO:0002525 CHR:9606chr3q11.2-q13.12 ; - oboInOwl:hasDbXref UMLS:C1306668, - UMLS:C2751430 ; oboInOwl:hasExactSynonym "CAMPD1", "camptodactyly 1", "camptodactyly and knuckle pads", "streblodactyly" ; + skos:exactMatch UMLS:C1306668, + UMLS:C2751430 ; biolink:category biolink:Disease . OMIM:114835 a owl:Class ; @@ -375715,7 +392025,6 @@ OMIM:114835 a owl:Class ; PMID:9048571 ; RO:0002525 CHR:9606chr16q12.2 ; RO:0003303 OMIM:618057 ; - oboInOwl:hasDbXref UMLS:C1413347 ; oboInOwl:hasExactSynonym "CES1", "carboxylesterase 1", "carboxylesterase 2, formerly", @@ -375725,7 +392034,9 @@ OMIM:114835 a owl:Class ; "triacylglycerol hydrolase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1066 ; - skos:exactMatch HGNC_symbol:CES1 ; + skos:exactMatch UMLS:C1413347, + HGNC:1863, + HGNC_symbol:CES1 ; biolink:category biolink:Gene . OMIM:114840 a owl:Class ; @@ -375753,8 +392064,6 @@ OMIM:114840 a owl:Class ; PMID:9774442 ; RO:0002525 CHR:9606chr9q34.13 ; RO:0003303 OMIM:609812 ; - oboInOwl:hasDbXref UMLS:C1413336, - UMLS:C1413337 ; oboInOwl:hasExactSynonym "CEL", "bile salt-dependent lipase", "bile salt-dependent lipase, oncofetal isoform", @@ -375768,7 +392077,10 @@ OMIM:114840 a owl:Class ; "lysophospholipase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1056 ; - skos:exactMatch HGNC_symbol:CEL ; + skos:exactMatch UMLS:C1413336, + UMLS:C1413337, + HGNC:1848, + HGNC_symbol:CEL ; biolink:category biolink:Gene . OMIM:115197 a owl:Class ; @@ -375795,12 +392107,12 @@ OMIM:115197 a owl:Class ; PMID:8834242, PMID:9241277, PMID:9562578 ; - oboInOwl:hasDbXref UMLS:C1861862, - UMLS:C2751427 ; oboInOwl:hasExactSynonym "CMH4", "cardiomyopathy, familial hypertrophic, 4", "cardiomyopathy, familial hypertrophic, 4, susceptibility to" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C1861862, + UMLS:C2751427 ; biolink:category biolink:Disease . OMIM:115200 a owl:Class ; @@ -375848,9 +392160,6 @@ OMIM:115200 a owl:Class ; PMID:8567977, PMID:8592331, PMID:9227300 ; - oboInOwl:hasDbXref UMLS:C1449563, - ORPHA:154, - ORPHA:300751 ; oboInOwl:hasExactSynonym "CMD1A", "cardiomyopathy, congestive", "cardiomyopathy, dilated, 1a", @@ -375858,6 +392167,9 @@ OMIM:115200 a owl:Class ; "cardiomyopathy, familial idiopathic", "cardiomyopathy, idiopathic dilated" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1449563, + ORPHA:154, + ORPHA:300751 ; biolink:category biolink:Disease . OMIM:115300 a owl:Class ; @@ -375867,11 +392179,11 @@ OMIM:115300 a owl:Class ; PMID:19185284, PMID:5453458, PMID:5955354 ; - oboInOwl:hasDbXref UMLS:C2676023, - ORPHA:199285 ; oboInOwl:hasExactSynonym "HCVAD", "carotenoids, plasma level of, quantitative trait locus 1", "hypercarotenemia and vitamin a deficiency, autosomal dominant" ; + skos:exactMatch UMLS:C2676023, + ORPHA:199285 ; biolink:category biolink:Disease . OMIM:115310 a owl:Class ; @@ -375902,7 +392214,6 @@ OMIM:115310 a owl:Class ; PMID:7074575, PMID:890238, PMID:9509062 ; - oboInOwl:hasDbXref UMLS:C1861848 ; oboInOwl:hasExactSynonym "PGL4", "carotid body tumors and multiple extraadrenal pheochromocytomas", "paraganglioma, familial malignant", @@ -375911,6 +392222,7 @@ OMIM:115310 a owl:Class ; "pheochromocytoma, extraadrenal, and cervical paraganglioma", "pheochromocytoma, familial extraadrenal" ; rdfs:subClassOf OMIMPS:168000 ; + skos:exactMatch UMLS:C1861848 ; biolink:category biolink:Disease . OMIM:115660 a owl:Class ; @@ -375918,12 +392230,12 @@ OMIM:115660 a owl:Class ; IAO:0000142 PMID:7704021, PMID:9497271 ; RO:0002525 CHR:9606chr17q24 ; - oboInOwl:hasDbXref UMLS:C0344523 ; oboInOwl:hasExactSynonym "CTRCT7", "cataract 7", "cataract 7, cerulean iia", "cataract, congenital, cerulean type, 1" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C0344523 ; biolink:category biolink:Disease . OMIM:115665 a owl:Class ; @@ -375933,31 +392245,31 @@ OMIM:115665 a owl:Class ; PMID:8808597, PMID:9497271 ; RO:0002525 CHR:9606chr1pter-p36.13 ; - oboInOwl:hasDbXref UMLS:C1861833 ; oboInOwl:hasExactSynonym "CTRCT8", "cataract 8, multiple types", "cataract, congenital, volkmann iia" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1861833 ; biolink:category biolink:Disease . OMIM:115800 a owl:Class ; rdfs:label "cataract 29" ; IAO:0000142 PMID:15933805 ; RO:0002525 CHR:9606chr2pter-p24 ; - oboInOwl:hasDbXref UMLS:C3805409 ; oboInOwl:hasExactSynonym "CTRCT29", "cataract 29", "cataract 29, coralliform" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3805409 ; biolink:category biolink:Disease . OMIM:115900 a owl:Class ; rdfs:label "cataract 42" ; IAO:0000142 PMID:23508780 ; - oboInOwl:hasDbXref UMLS:C4011454 ; oboInOwl:hasExactSynonym "CTRCT42", "cataract 42" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C4011454 ; biolink:category biolink:Disease . OMIM:116100 a owl:Class ; @@ -375965,10 +392277,10 @@ OMIM:116100 a owl:Class ; IAO:0000142 PMID:16141006, PMID:18587492, PMID:19262743 ; - oboInOwl:hasDbXref UMLS:C3805410 ; oboInOwl:hasExactSynonym "CTRCT20", "cataract 20, multiple types" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3805410 ; biolink:category biolink:Disease . OMIM:116300 a owl:Class ; @@ -375976,13 +392288,13 @@ OMIM:116300 a owl:Class ; IAO:0000142 PMID:19126778, PMID:26694549, PMID:28450710 ; - oboInOwl:hasDbXref UMLS:C3805411, - ORPHA:91492, - ORPHA:98984, - ORPHA:98992 ; oboInOwl:hasExactSynonym "CTRCT30", "cataract 30, multiple types" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3805411, + ORPHA:91492, + ORPHA:98984, + ORPHA:98992 ; biolink:category biolink:Disease . OMIM:116800 a owl:Class ; @@ -375993,14 +392305,14 @@ OMIM:116800 a owl:Class ; PMID:2728866, PMID:3233780, PMID:9497271 ; - oboInOwl:hasDbXref UMLS:C1861821, - UMLS:C3888417, - ORPHA:91492 ; oboInOwl:hasExactSynonym "CTRCT5", "cataract 5, multiple types", "cataract, lamellar", "cataract, marner iia" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1861821, + UMLS:C3888417, + ORPHA:91492 ; biolink:category biolink:Disease . OMIM:116860 a owl:Class ; @@ -376052,9 +392364,6 @@ OMIM:116860 a owl:Class ; PMID:9811928, PMID:9863787, PMID:9989629 ; - oboInOwl:hasDbXref UMLS:C1366911, - UMLS:C2919945, - ORPHA:221061 ; oboInOwl:hasExactSynonym "CCM", "cavernous angioma, familial", "cavernous angiomatous malformations", @@ -376064,6 +392373,9 @@ OMIM:116860 a owl:Class ; "cerebral cavernous malformations 1", "hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations" ; rdfs:subClassOf OMIMPS:116860 ; + skos:exactMatch UMLS:C1366911, + UMLS:C2919945, + ORPHA:221061 ; biolink:category biolink:Disease . OMIM:116920 a owl:Class ; @@ -376119,14 +392431,14 @@ OMIM:116920 a owl:Class ; PMID:7902162, PMID:86829, PMID:9653089 ; - oboInOwl:hasDbXref UMLS:C0398738, - ORPHA:2968, - ORPHA:99842 ; oboInOwl:hasExactSynonym "LAD1", "leukocyte adhesion deficiency", "leukocyte adhesion deficiency, iia 1", "lfa1 immunodeficiency", "lymphocyte function-associated antigen 1 immunodeficiency" ; + skos:exactMatch UMLS:C0398738, + ORPHA:2968, + ORPHA:99842 ; biolink:category biolink:Disease . OMIM:116930 a owl:Class ; @@ -376143,14 +392455,15 @@ OMIM:116930 a owl:Class ; PMID:7946345, PMID:8507983, PMID:8692830 ; - oboInOwl:hasDbXref UMLS:C1334863 ; oboInOwl:hasExactSynonym "NCAM1", "antigen msk39 identified by monoclonal antibody 5.1h11", "cd56", "cell adhesion molecule, neural, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4684 ; - skos:exactMatch HGNC_symbol:NCAM1 ; + skos:exactMatch UMLS:C1334863, + HGNC:7656, + HGNC_symbol:NCAM1 ; biolink:category biolink:Gene . OMIM:116950 a owl:Class ; @@ -376159,10 +392472,10 @@ OMIM:116950 a owl:Class ; PMID:180537, PMID:629937, PMID:659518 ; - oboInOwl:hasDbXref UMLS:C1861765 ; oboInOwl:hasExactSynonym "AF8T", "cell cycle controller, g1", - "temperature-sensitive af8 complement" . + "temperature-sensitive af8 complement" ; + skos:exactMatch UMLS:C1861765 . OMIM:116960 a owl:Class ; rdfs:label "MORF4" ; @@ -376174,7 +392487,6 @@ OMIM:116960 a owl:Class ; PMID:6879195, PMID:8813147, PMID:9891081 ; - oboInOwl:hasDbXref UMLS:C1423721 ; oboInOwl:hasExactSynonym "MORF4", "cell senescence-related gene, complementation group B", "cellular senescence 1", @@ -376183,7 +392495,9 @@ OMIM:116960 a owl:Class ; "senescence-related, cellular, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10934 ; - skos:exactMatch HGNC_symbol:MORF4 ; + skos:exactMatch UMLS:C1423721, + HGNC:15773, + HGNC_symbol:MORF4 ; biolink:category biolink:Gene . OMIM:117000 a owl:Class ; @@ -376222,11 +392536,6 @@ OMIM:117000 a owl:Class ; PMID:8430700, PMID:8483915, PMID:9829276 ; - oboInOwl:hasDbXref UMLS:C0751951, - UMLS:C2674259, - ORPHA:178145, - ORPHA:597, - ORPHA:598 ; oboInOwl:hasExactSynonym "CCD", "cco", "central core disease of muscle", @@ -376234,6 +392543,11 @@ OMIM:117000 a owl:Class ; "multicore myopathy, moderate, with hand involvement", "multiminicore disease, moderate, with hand involvement", "neuromuscular disease, congenital, with uniform iia 1 fiber" ; + skos:exactMatch UMLS:C0751951, + UMLS:C2674259, + ORPHA:178145, + ORPHA:597, + ORPHA:598 ; biolink:category biolink:Disease . OMIM:117100 a owl:Class ; @@ -376248,12 +392562,12 @@ OMIM:117100 a owl:Class ; PMID:807473, PMID:9855510 ; RO:0002525 CHR:9606chr11p13 ; - oboInOwl:hasDbXref UMLS:C2363129 ; oboInOwl:hasExactSynonym "benign epilepsy of childhood with centrotemporal spikes", "benign rolandic epilepsy", "centralopathic epilepsy", "centrotemporal epilepsy", "temporal-central focal epilepsy" ; + skos:exactMatch UMLS:C2363129 ; biolink:category biolink:Disease . OMIM:117140 a owl:Class ; @@ -376266,12 +392580,13 @@ OMIM:117140 a owl:Class ; PMID:3315496, PMID:7896278, PMID:8406460 ; - oboInOwl:hasDbXref UMLS:C1413339 ; oboInOwl:hasExactSynonym "CENPB", "centromeric protein B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1059 ; - skos:exactMatch HGNC_symbol:CENPB ; + skos:exactMatch UMLS:C1413339, + HGNC:1852, + HGNC_symbol:CENPB ; biolink:category biolink:Gene . OMIM:117300 a owl:Class ; @@ -376279,12 +392594,12 @@ OMIM:117300 a owl:Class ; IAO:0000142 PMID:10781099, PMID:12388551, PMID:20385796 ; - oboInOwl:hasDbXref UMLS:C1861735 ; oboInOwl:hasExactSynonym "cerebellar ataxia, cataract, deafness, and dementia or psychosis", "cerebral amyloid angiopathy, itm2b-related, 2", "dementia, familial danish", "familial danish dementia", "heredopathia ophthalmootoencephalica" ; + skos:exactMatch UMLS:C1861735 ; biolink:category biolink:Disease . OMIM:117360 a owl:Class ; @@ -376302,13 +392617,13 @@ OMIM:117360 a owl:Class ; PMID:4004161, PMID:6847426, PMID:8279653 ; - oboInOwl:hasDbXref UMLS:C1861732 ; oboInOwl:hasExactSynonym "SCA29", "aplasia of cerebellar vermis", "cerebellar ataxia, congenital nonprogressive, autosomal dominant", "cerebellar vermis aplasia", "spinocerebellar ataxia 29" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1861732 ; biolink:category biolink:Disease . OMIM:117550 a owl:Class ; @@ -376368,14 +392683,14 @@ OMIM:117550 a owl:Class ; PMID:9781915, PMID:9781916, PMID:9950366 ; - oboInOwl:hasDbXref UMLS:C0175695, - UMLS:C4551477, - ORPHA:821 ; oboInOwl:hasExactSynonym "SOTOS", "cerebral gigantism", "chromosome 5q35 deletion syndrome", "sotos syndrome", "sotos syndrome 1, formerly" ; + skos:exactMatch UMLS:C0175695, + UMLS:C4551477, + ORPHA:821 ; biolink:category biolink:Disease . OMIM:117650 a owl:Class ; @@ -376402,10 +392717,10 @@ OMIM:117650 a owl:Class ; PMID:7411303, PMID:8882789, PMID:9781016 ; - oboInOwl:hasDbXref UMLS:C0265342 ; oboInOwl:hasExactSynonym "CCMS", "cerebrocostomandibular syndrome", "rib gap defects with micrognathia" ; + skos:exactMatch UMLS:C0265342 ; biolink:category biolink:Disease . OMIM:117800 a owl:Class ; @@ -376423,13 +392738,13 @@ OMIM:117800 a owl:Class ; PMID:6055546, PMID:6055547, PMID:6075316 ; - oboInOwl:hasDbXref UMLS:C1861696 ; oboInOwl:hasExactSynonym "apocrine gland secretion, variation 1n", "axillary odor, variation 1n", "cerumen, variation 1n", "colostrum secretion, variation 1n", "ear wax, wet/dry", "wet wax" ; + skos:exactMatch UMLS:C1861696 ; biolink:category biolink:Disease . OMIM:118200 a owl:Class ; @@ -376495,10 +392810,6 @@ OMIM:118200 a owl:Class ; PMID:7693129, PMID:8310815, PMID:8862346 ; - oboInOwl:hasDbXref UMLS:C0007959, - UMLS:C0270912, - UMLS:C0751036, - ORPHA:101082 ; oboInOwl:hasExactSynonym "CMT1B", "charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, iia 1b", "charcot-marie-tooth disease, demyelinating, iia 1b", @@ -376510,6 +392821,10 @@ OMIM:118200 a owl:Class ; "hmsn1b", "peroneal muscular atrophy" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C0007959, + UMLS:C0270912, + UMLS:C0751036, + ORPHA:101082 ; biolink:category biolink:Disease . OMIM:118400 a owl:Class ; @@ -376523,10 +392838,10 @@ OMIM:118400 a owl:Class ; PMID:5213235, PMID:5474754, PMID:8541863 ; - oboInOwl:hasDbXref UMLS:C0008029, - ORPHA:184 ; oboInOwl:hasExactSynonym "cherubism", "crbm" ; + skos:exactMatch UMLS:C0008029, + ORPHA:184 ; biolink:category biolink:Disease . OMIM:118800 a owl:Class ; @@ -376551,8 +392866,6 @@ OMIM:118800 a owl:Class ; PMID:8659517, PMID:8659518, PMID:9490305 ; - oboInOwl:hasDbXref UMLS:C4551506, - ORPHA:98810 ; oboInOwl:hasExactSynonym "PNKD1", "choreoathetosis, familial paroxysmal", "choreoathetosis, nonkinesigenic", @@ -376561,6 +392874,8 @@ OMIM:118800 a owl:Class ; "paroxysmal dystonic choreoathetosis", "paroxysmal nonkinesigenic dyskinesia 1" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C4551506, + ORPHA:98810 ; biolink:category biolink:Disease . OMIM:118850 a owl:Class ; @@ -376580,7 +392895,6 @@ OMIM:118850 a owl:Class ; PMID:6581542, PMID:6821817, PMID:9369446 ; - oboInOwl:hasDbXref UMLS:C1413366 ; oboInOwl:hasExactSynonym "CGA", "chorionic gonadotropin, alpha chain", "follicle-stimulating hormone, alpha chain", @@ -376590,7 +392904,9 @@ OMIM:118850 a owl:Class ; "thyrotropin, alpha chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1081 ; - skos:exactMatch HGNC_symbol:CGA ; + skos:exactMatch UMLS:C1413366, + HGNC:1885, + HGNC_symbol:CGA ; biolink:category biolink:Gene . OMIM:118938 a owl:Class ; @@ -376602,26 +392918,28 @@ OMIM:118938 a owl:Class ; PMID:20940421, PMID:7682566, PMID:8468056 ; - oboInOwl:hasDbXref UMLS:C1413516 ; oboInOwl:hasExactSynonym "CMA1", "chymase 1", "chymase, heart", "chymase, mast cell" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1215 ; - skos:exactMatch HGNC_symbol:CMA1 ; + skos:exactMatch UMLS:C1413516, + HGNC:2097, + HGNC_symbol:CMA1 ; biolink:category biolink:Gene . OMIM:118943 a owl:Class ; rdfs:label "chymosin pseudogene" ; IAO:0000142 PMID:2071156, PMID:2210384 ; - oboInOwl:hasDbXref UMLS:C0072250, - UMLS:C1413853 ; oboInOwl:hasExactSynonym "CYMP", "chymosin pseudogene", "prochymosin" ; - skos:exactMatch HGNC_symbol:CYMP . + skos:exactMatch UMLS:C0072250, + UMLS:C1413853, + HGNC:2588, + HGNC_symbol:CYMP . OMIM:119100 a owl:Class ; rdfs:label "split-hand/foot malformation with long bone deficiency 1" ; @@ -376636,8 +392954,6 @@ OMIM:119100 a owl:Class ; PMID:7987314, PMID:8723107 ; RO:0002525 CHR:9606chr1q42.2-q43 ; - oboInOwl:hasDbXref UMLS:C1861553, - UMLS:C4551989 ; oboInOwl:hasExactSynonym "SHFLD1", "aplasia of tibia with ectrodactyly", "cleft hand and absent tibia", @@ -376645,6 +392961,8 @@ OMIM:119100 a owl:Class ; "split-hand/foot malformation with long bone deficiency", "split-hand/foot malformation with long bone deficiency 1", "tibial aplasia with split-hand/split-foot deformity" ; + skos:exactMatch UMLS:C1861553, + UMLS:C4551989 ; biolink:category biolink:Disease . OMIM:119530 a owl:Class ; @@ -376701,16 +393019,16 @@ OMIM:119530 a owl:Class ; PMID:9108119, PMID:9244439 ; RO:0002525 CHR:9606chr6p24.3 ; - oboInOwl:hasDbXref UMLS:C1861537, - ORPHA:141291, - ORPHA:199302, - ORPHA:199306 ; oboInOwl:hasExactSynonym "OFC1", "cleft 51p with or without cleft palate, nonsyndromic, 1", "cleft lip/palate, nonsyndromic", "orofacial cleft 1", "orofacial cleft, nonsyndromic" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1861537, + ORPHA:141291, + ORPHA:199302, + ORPHA:199306 ; biolink:category biolink:Disease . OMIM:119580 a owl:Class ; @@ -376730,8 +393048,6 @@ OMIM:119580 a owl:Class ; PMID:8588591, PMID:8911600, PMID:9511975 ; - oboInOwl:hasDbXref UMLS:C1861536, - UMLS:C4551988 ; oboInOwl:hasExactSynonym "BCDS1", "bcd syndrome", "blepharocheilodontic syndrome", @@ -376741,14 +393057,16 @@ OMIM:119580 a owl:Class ; "elschnig syndrome", "lagophthalmia with bilateral cleft 51p and palate" ; rdfs:subClassOf OMIMPS:119580 ; + skos:exactMatch UMLS:C1861536, + UMLS:C4551988 ; biolink:category biolink:Disease . OMIM:120050 a owl:Class ; rdfs:label "coxsackievirus b3 susceptibility" ; - oboInOwl:hasDbXref UMLS:C1861511 ; oboInOwl:hasExactSynonym "CXB3S", "cb3s", "coxsackievirus b3 susceptibility" ; + skos:exactMatch UMLS:C1861511 ; biolink:category biolink:Disease . OMIM:120140 a owl:Class ; @@ -376868,7 +393186,14 @@ OMIM:120140 a owl:Class ; PMID:9854047 ; RO:0002525 CHR:9606chr12q13.11 ; RO:0003303 OMIM:609508 ; - oboInOwl:hasDbXref UMLS:C0023234, + oboInOwl:hasExactSynonym "COL2A1", + "chondrocalcin", + "collagen of cartilage", + "collagen, iia 2", + "collagen, iia ii, alpha-1" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:1280 ; + skos:exactMatch UMLS:C0023234, UMLS:C0220685, UMLS:C0265279, UMLS:C0432214, @@ -376885,15 +393210,9 @@ OMIM:120140 a owl:Class ; UMLS:C2020284, UMLS:C2745959, UMLS:C4225640, - UMLS:C4551562 ; - oboInOwl:hasExactSynonym "COL2A1", - "chondrocalcin", - "collagen of cartilage", - "collagen, iia 2", - "collagen, iia ii, alpha-1" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:1280 ; - skos:exactMatch HGNC_symbol:COL2A1 ; + UMLS:C4551562, + HGNC:2200, + HGNC_symbol:COL2A1 ; biolink:category biolink:Gene . OMIM:120165 a owl:Class ; @@ -376903,13 +393222,14 @@ OMIM:120165 a owl:Class ; PMID:7916703, PMID:9143499, PMID:9344653 ; - oboInOwl:hasDbXref UMLS:C1413578 ; oboInOwl:hasExactSynonym "COL19A1", "collagen, iia ix-like", "collagen, iia xix, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1310 ; - skos:exactMatch HGNC_symbol:COL19A1 ; + skos:exactMatch UMLS:C1413578, + HGNC:2196, + HGNC_symbol:COL19A1 ; biolink:category biolink:Gene . OMIM:120190 a owl:Class ; @@ -376928,13 +393248,14 @@ OMIM:120190 a owl:Class ; PMID:9783710 ; RO:0002525 CHR:9606chr2q32.2 ; RO:0003303 OMIM:130010 ; - oboInOwl:hasDbXref UMLS:C1413588 ; oboInOwl:hasExactSynonym "COL5A2", "ab collagen", "collagen, iia v, alpha-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1290 ; - skos:exactMatch HGNC_symbol:COL5A2 ; + skos:exactMatch UMLS:C1413588, + HGNC:2210, + HGNC_symbol:COL5A2 ; biolink:category biolink:Gene . OMIM:120320 a owl:Class ; @@ -376947,12 +393268,13 @@ OMIM:120320 a owl:Class ; PMID:9143499 ; RO:0002525 CHR:9606chr6q13-q14.1 ; RO:0003303 OMIM:616471 ; - oboInOwl:hasDbXref UMLS:C1413572 ; oboInOwl:hasExactSynonym "COL12A1", "collagen, iia xii, alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1303 ; - skos:exactMatch HGNC_symbol:COL12A1 ; + skos:exactMatch UMLS:C1413572, + HGNC:2188, + HGNC_symbol:COL12A1 ; biolink:category biolink:Gene . OMIM:120324 a owl:Class ; @@ -376965,13 +393287,14 @@ OMIM:120324 a owl:Class ; PMID:22972947, PMID:7842743, PMID:9427527 ; - oboInOwl:hasDbXref UMLS:C1413574 ; oboInOwl:hasExactSynonym "COL14A1", "collagen, iia xiv, alpha-1", "undulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7373 ; - skos:exactMatch HGNC_symbol:COL14A1 ; + skos:exactMatch UMLS:C1413574, + HGNC:2191, + HGNC_symbol:COL14A1 ; biolink:category biolink:Gene . OMIM:120330 a owl:Class ; @@ -377004,7 +393327,6 @@ OMIM:120330 a owl:Class ; PMID:8589702, PMID:894968, PMID:9783702 ; - oboInOwl:hasDbXref UMLS:C1852759 ; oboInOwl:hasExactSynonym "PAPRS", "cakut with or without ocular abnormalities", "coloboma of optic nerve with renal disease", @@ -377014,6 +393336,7 @@ OMIM:120330 a owl:Class ; "papillorenal syndrome", "renal-coloboma syndrome", "renal-coloboma syndrome with macular abnormalities" ; + skos:exactMatch UMLS:C1852759 ; biolink:category biolink:Disease . OMIM:120433 a owl:Class ; @@ -377022,9 +393345,9 @@ OMIM:120433 a owl:Class ; PMID:4997531, PMID:7154042, PMID:9382148 ; - oboInOwl:hasDbXref UMLS:C3805432 ; oboInOwl:hasExactSynonym "COB1", "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation" ; + skos:exactMatch UMLS:C3805432 ; biolink:category biolink:Disease . OMIM:120435 a owl:Class ; @@ -377124,14 +393447,14 @@ OMIM:120435 a owl:Class ; PMID:9593794, PMID:9709044, PMID:9736731 ; - oboInOwl:hasDbXref UMLS:C2936783, - ORPHA:144 ; oboInOwl:hasExactSynonym "coca1", "colon cancer, familial nonpolyposis, iia 1", "colorectal cancer, hereditary nonpolyposis, iia 1", "lynch syndrome 1", "lynch syndrome 2" ; rdfs:subClassOf OMIMPS:120435 ; + skos:exactMatch UMLS:C2936783, + ORPHA:144 ; biolink:category biolink:Disease . OMIM:120502 a owl:Class ; @@ -377141,9 +393464,9 @@ OMIM:120502 a owl:Class ; PMID:5215910, PMID:9556298 ; RO:0002525 CHR:9606chr1q31 ; - oboInOwl:hasDbXref UMLS:C1852718 ; oboInOwl:hasExactSynonym "bo syndrome 2", "branchiootic syndrome 2" ; + skos:exactMatch UMLS:C1852718 ; biolink:category biolink:Disease . OMIM:120520 a owl:Class ; @@ -377170,7 +393493,6 @@ OMIM:120520 a owl:Class ; PMID:3038078 ; RO:0002525 CHR:9606chr3q25.2 ; RO:0003303 OMIM:617017 ; - oboInOwl:hasDbXref UMLS:C1366499 ; oboInOwl:hasExactSynonym "MME", "atriopeptidase", "cd10", @@ -377181,7 +393503,9 @@ OMIM:120520 a owl:Class ; "neutral endopeptidase, membrane-associated" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4311 ; - skos:exactMatch HGNC_symbol:MME ; + skos:exactMatch UMLS:C1366499, + HGNC:7154, + HGNC_symbol:MME ; biolink:category biolink:Gene . OMIM:120790 a owl:Class ; @@ -377190,8 +393514,8 @@ OMIM:120790 a owl:Class ; PMID:6480834, PMID:7883978, PMID:8144914 ; - oboInOwl:hasDbXref UMLS:C1852700 ; oboInOwl:hasExactSynonym "complement component 4, partial deficiency of" ; + skos:exactMatch UMLS:C1852700 ; biolink:category biolink:Disease . OMIM:120830 a owl:Class ; @@ -377213,15 +393537,16 @@ OMIM:120830 a owl:Class ; PMID:6943584, PMID:7464836, PMID:8406448 ; - oboInOwl:hasDbXref UMLS:C1413001, - UMLS:C1413002 ; oboInOwl:hasExactSynonym "C4BPA", "c4b receptor", "complement component 4-binding protein, alpha", "complement component 4-binding protein, alpha-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:722 ; - skos:exactMatch HGNC_symbol:C4BPA ; + skos:exactMatch UMLS:C1413001, + UMLS:C1413002, + HGNC:1325, + HGNC_symbol:C4BPA ; biolink:category biolink:Gene . OMIM:120900 a owl:Class ; @@ -377250,15 +393575,16 @@ OMIM:120900 a owl:Class ; PMID:9700192 ; RO:0002525 CHR:9606chr9q33.2 ; RO:0003303 OMIM:615749 ; - oboInOwl:hasDbXref UMLS:C0343047, - UMLS:C1367710, - UMLS:C3810402, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "C5", "complement component 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:727 ; - skos:exactMatch HGNC_symbol:C5 ; + skos:exactMatch UMLS:C0343047, + UMLS:C1367710, + UMLS:C3810402, + UMLS:C4015968, + HGNC:1331, + HGNC_symbol:C5 ; biolink:category biolink:Gene . OMIM:121201 a owl:Class ; @@ -377269,11 +393595,11 @@ OMIM:121201 a owl:Class ; PMID:23146207, PMID:8102508, PMID:9425900 ; - oboInOwl:hasDbXref UMLS:C1852581 ; oboInOwl:hasExactSynonym "BFNS2", "convulsions, benign familial neonatal, 2", "seizures, benign familial neonatal, 2" ; rdfs:subClassOf OMIMPS:121200 ; + skos:exactMatch UMLS:C1852581 ; biolink:category biolink:Disease . OMIM:121400 a owl:Class ; @@ -377286,10 +393612,10 @@ OMIM:121400 a owl:Class ; PMID:8723718, PMID:8929947 ; RO:0002525 CHR:9606chr12q21.33 ; - oboInOwl:hasDbXref UMLS:C1852557 ; oboInOwl:hasExactSynonym "CNA1", "cornea plana 1, autosomal dominant" ; rdfs:subClassOf OMIMPS:121400 ; + skos:exactMatch UMLS:C1852557 ; biolink:category biolink:Disease . OMIM:121800 a owl:Class ; @@ -377311,12 +393637,12 @@ OMIM:121800 a owl:Class ; PMID:8190477, PMID:8894705, PMID:9450854 ; - oboInOwl:hasDbXref UMLS:C0271287 ; oboInOwl:hasExactSynonym "SCCD", "corneal dystrophy, crystalline, of schnyder", "corneal dystrophy, schnyder", "schnyder corneal dystrophy", "schnyder crystalline corneal dystrophy" ; + skos:exactMatch UMLS:C0271287 ; biolink:category biolink:Disease . OMIM:121850 a owl:Class ; @@ -377331,11 +393657,11 @@ OMIM:121850 a owl:Class ; PMID:26396486, PMID:302662, PMID:7950337 ; - oboInOwl:hasDbXref UMLS:C1562113 ; oboInOwl:hasExactSynonym "cfd", "corneal dystrophy, fleck", "corneal dystrophy, francois-neetens speckled or flecked", "fleck corneal dystrophy" ; + skos:exactMatch UMLS:C1562113 ; biolink:category biolink:Disease . OMIM:122100 a owl:Class ; @@ -377351,15 +393677,15 @@ OMIM:122100 a owl:Class ; PMID:5297150, PMID:9171831, PMID:9467444 ; - oboInOwl:hasDbXref UMLS:C0339277, - UMLS:C5231499, - ORPHA:98954 ; oboInOwl:hasExactSynonym "MECD1", "corneal dystrophy, juvenile epithelial, of meesmann", "corneal dystrophy, meesmann epithelial", "corneal dystrophy, meesmann, 1", "meesmann corneal dystrophy" ; rdfs:subClassOf OMIMPS:122100 ; + skos:exactMatch UMLS:C0339277, + UMLS:C5231499, + ORPHA:98954 ; biolink:category biolink:Disease . OMIM:122400 a owl:Class ; @@ -377373,20 +393699,20 @@ OMIM:122400 a owl:Class ; PMID:26786512, PMID:5300718, PMID:9403072 ; - oboInOwl:hasDbXref UMLS:C1852551 ; oboInOwl:hasExactSynonym "ERED", "corneal erosions, recurring hereditary", "epithelial recurrent erosion dystrophy" ; + skos:exactMatch UMLS:C1852551 ; biolink:category biolink:Disease . OMIM:122460 a owl:Class ; rdfs:label "human coronavirus sensitivity" ; IAO:0000142 PMID:6285532 ; RO:0002525 CHR:9606chr15q11-qter ; - oboInOwl:hasDbXref UMLS:C1852539 ; oboInOwl:hasExactSynonym "HCVS", "coronavirus 229e susceptibility", "human coronavirus sensitivity" ; + skos:exactMatch UMLS:C1852539 ; biolink:category biolink:Disease . OMIM:122470 a owl:Class ; @@ -377506,9 +393832,6 @@ OMIM:122470 a owl:Class ; PMID:8914746, PMID:9279756, PMID:961413 ; - oboInOwl:hasDbXref UMLS:C0270972, - UMLS:C4551851, - ORPHA:199 ; oboInOwl:hasExactSynonym "CDLS1", "brachmann-de lange syndrome", "cdl", @@ -377516,6 +393839,9 @@ OMIM:122470 a owl:Class ; "lange lange syndrome", "typus degenerativus amstelodamensis" ; rdfs:subClassOf OMIMPS:122470 ; + skos:exactMatch UMLS:C0270972, + UMLS:C4551851, + ORPHA:199 ; biolink:category biolink:Disease . OMIM:122600 a owl:Class ; @@ -377532,8 +393858,6 @@ OMIM:122600 a owl:Class ; PMID:3236365, PMID:3740094, PMID:5722643 ; - oboInOwl:hasDbXref UMLS:C4083048, - ORPHA:1797 ; oboInOwl:hasExactSynonym "SCDO5", "costovertebral segmentation anomalies", "scoliosis, congenital, with or without rib anomalies", @@ -377542,6 +393866,8 @@ OMIM:122600 a owl:Class ; "spondylothoracic dysostosis", "tacs" ; rdfs:subClassOf OMIMPS:277300 ; + skos:exactMatch UMLS:C4083048, + ORPHA:1797 ; biolink:category biolink:Disease . OMIM:122720 a owl:Class ; @@ -377589,8 +393915,6 @@ OMIM:122720 a owl:Class ; PMID:9827545 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:188890 ; - oboInOwl:hasDbXref UMLS:C1413868, - UMLS:C1852514 ; oboInOwl:hasExactSynonym "CYP2A6", "coumarin 7-hydroxylase", "cyp2a3, formerly", @@ -377599,7 +393923,10 @@ OMIM:122720 a owl:Class ; "tegafur, poor metabolism of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1548 ; - skos:exactMatch HGNC_symbol:CYP2A6 ; + skos:exactMatch UMLS:C1413868, + UMLS:C1852514, + HGNC:2610, + HGNC_symbol:CYP2A6 ; biolink:category biolink:Gene . OMIM:123000 a owl:Class ; @@ -377625,13 +393952,13 @@ OMIM:123000 a owl:Class ; PMID:7616544, PMID:7678608, PMID:9382103 ; - oboInOwl:hasDbXref UMLS:C1852502, - ORPHA:1522 ; oboInOwl:hasExactSynonym "CMDD", "cmd", "craniometaphyseal dysplasia, autosomal dominant", "craniometaphyseal dysplasia, jackson iia" ; rdfs:subClassOf OMIMPS:123000 ; + skos:exactMatch UMLS:C1852502, + ORPHA:1522 ; biolink:category biolink:Disease . OMIM:123100 a owl:Class ; @@ -377657,12 +393984,12 @@ OMIM:123100 a owl:Class ; PMID:6049836, PMID:8882788, PMID:982314 ; - oboInOwl:hasDbXref UMLS:C4551902 ; oboInOwl:hasExactSynonym "CRS1", "craniostenosis", "craniosynostosis 1", "crs" ; rdfs:subClassOf OMIMPS:123100 ; + skos:exactMatch UMLS:C4551902 ; biolink:category biolink:Disease . OMIM:123150 a owl:Class ; @@ -377677,11 +394004,11 @@ OMIM:123150 a owl:Class ; PMID:8737660, PMID:8737661, PMID:908170 ; - oboInOwl:hasDbXref UMLS:C0795998, - ORPHA:1540 ; oboInOwl:hasExactSynonym "JWS", "craniosynostosis, midfacial hypoplasia, and foot abnormalities", "jackson-weiss syndrome" ; + skos:exactMatch UMLS:C0795998, + ORPHA:1540 ; biolink:category biolink:Disease . OMIM:123155 a owl:Class ; @@ -377690,18 +394017,18 @@ OMIM:123155 a owl:Class ; PMID:7849713, PMID:8266990 ; RO:0002525 CHR:9606chr8q12.2-q21.2 ; - oboInOwl:hasDbXref UMLS:C1838347 ; oboInOwl:hasExactSynonym "HDCPH1", "hydrocephalus, autosomal dominant" ; + skos:exactMatch UMLS:C1838347 ; biolink:category biolink:Disease . OMIM:123270 a owl:Class ; rdfs:label "creatine kinase, brain type, ectopic expression of" ; IAO:0000142 PMID:708891 ; RO:0002525 CHR:9606chr14q32 ; - oboInOwl:hasDbXref UMLS:C3887923 ; oboInOwl:hasExactSynonym "CKBE", - "creatine kinase, brain type, ectopic expression of" . + "creatine kinase, brain type, ectopic expression of" ; + skos:exactMatch UMLS:C3887923 . OMIM:123280 a owl:Class ; rdfs:label "CKB" ; @@ -377721,13 +394048,14 @@ OMIM:123280 a owl:Class ; PMID:6830458, PMID:6968531, PMID:7500830 ; - oboInOwl:hasDbXref UMLS:C1332763 ; oboInOwl:hasExactSynonym "CKB", "brain creatine kinase", "creatine kinase, brain iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1152 ; - skos:exactMatch HGNC_symbol:CKB ; + skos:exactMatch UMLS:C1332763, + HGNC:1991, + HGNC_symbol:CKB ; biolink:category biolink:Gene . OMIM:123930 a owl:Class ; @@ -377750,24 +394078,26 @@ OMIM:123930 a owl:Class ; PMID:8432525 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:614546 ; - oboInOwl:hasDbXref UMLS:C1382176 ; oboInOwl:hasExactSynonym "CYP2B6", "cytochrome p450, phenobarbital-inducible", "cytochrome p450, subfamily iib, polypeptide 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1555 ; - skos:exactMatch HGNC_symbol:CYP2B6 ; + skos:exactMatch UMLS:C1382176, + HGNC:2615, + HGNC_symbol:CYP2B6 ; biolink:category biolink:Gene . OMIM:123997 a owl:Class ; rdfs:label "cytochrome c oxidase, subunit 7a2, pseudogene 2" ; IAO:0000142 PMID:1327965 ; - oboInOwl:hasDbXref UMLS:C4082982 ; oboInOwl:hasExactSynonym "COX7A2P2", "cytochrome c oxidase, subunit 7a2, pseudogene 2", "cytochrome c oxidase, subunit viia, liver isoform 2", "cytochrome c oxidase, subunit viia, polypeptide 3" ; - skos:exactMatch HGNC_symbol:COX7A2P2 . + skos:exactMatch UMLS:C4082982, + HGNC:2290, + HGNC_symbol:COX7A2P2 . OMIM:124200 a owl:Class ; rdfs:label "darier-white disease" ; @@ -377792,15 +394122,15 @@ OMIM:124200 a owl:Class ; PMID:921905, PMID:9529352, PMID:9579560 ; - oboInOwl:hasDbXref UMLS:C0022595, - UMLS:C1852296, - UMLS:C1852297 ; oboInOwl:hasExactSynonym "DAR", "darier disease", "darier disease, acral hemorrhagic iia", "darier disease, segmental", "darier-white disease", "keratosis follicularis" ; + skos:exactMatch UMLS:C0022595, + UMLS:C1852296, + UMLS:C1852297 ; biolink:category biolink:Disease . OMIM:124500 a owl:Class ; @@ -377814,13 +394144,13 @@ OMIM:124500 a owl:Class ; PMID:7748756, PMID:8010352, PMID:9326398 ; - oboInOwl:hasDbXref UMLS:C0265964, - ORPHA:494 ; oboInOwl:hasExactSynonym "VOWNKL", "deafness, congenital, with keratopachydermia and constrictions of fingers and toes", "keratoderma hereditarium mutilans", "mutilating keratoderma", "vohwinkel syndrome" ; + skos:exactMatch UMLS:C0265964, + ORPHA:494 ; biolink:category biolink:Disease . OMIM:124900 a owl:Class ; @@ -377835,12 +394165,12 @@ OMIM:124900 a owl:Class ; PMID:6719015, PMID:7211837, PMID:9360932 ; - oboInOwl:hasDbXref UMLS:C1852282, - ORPHA:494444 ; oboInOwl:hasExactSynonym "DFNA1", "deafness, autosomal dominant 1, with or without thrombocytopenia", "konigsmark syndrome" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1852282, + ORPHA:494444 ; biolink:category biolink:Disease . OMIM:125220 a owl:Class ; @@ -377864,7 +394194,6 @@ OMIM:125220 a owl:Class ; PMID:7667395, PMID:8525373, PMID:9268634 ; - oboInOwl:hasDbXref UMLS:C1413973 ; oboInOwl:hasExactSynonym "DEFA1", "cryptdin", "defensin 1", @@ -377876,17 +394205,19 @@ OMIM:125220 a owl:Class ; "retrocyclin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1667 ; - skos:exactMatch HGNC_symbol:DEFA1 ; + skos:exactMatch UMLS:C1413973, + HGNC:2761, + HGNC_symbol:DEFA1 ; biolink:category biolink:Gene . OMIM:125260 a owl:Class ; rdfs:label "defective interfering particle induction, control of" ; IAO:0000142 PMID:6275129 ; - oboInOwl:hasDbXref UMLS:C1852265 ; oboInOwl:hasExactSynonym "defective interfering particle induction, control of", "dipi, control of", "homologous viral interference", "vesicular stomatitis virus defective interfering particle repressor" ; + skos:exactMatch UMLS:C1852265 ; biolink:category biolink:Disease . OMIM:125480 a owl:Class ; @@ -378011,12 +394342,12 @@ OMIM:125480 a owl:Class ; PMID:9861003, PMID:9915960 ; RO:0002525 CHR:9606chr18p ; - oboInOwl:hasDbXref UMLS:C1852197 ; oboInOwl:hasExactSynonym "MAFD1", "bipolar affective disorder", "major affective disorder 1", "manic-depressive psychosis", "manic-depressive psychosis, autosomal" ; + skos:exactMatch UMLS:C1852197 ; biolink:category biolink:Disease . OMIM:125500 a owl:Class ; @@ -378035,10 +394366,10 @@ OMIM:125500 a owl:Class ; PMID:6946089, PMID:7573043, PMID:9541230 ; - oboInOwl:hasDbXref UMLS:C0399378 ; oboInOwl:hasExactSynonym "brandywine iia dentinogenesis imperfecta", "dentinogenesis imperfecta, shields iia 3", "dgi-iii" ; + skos:exactMatch UMLS:C0399378 ; biolink:category biolink:Disease . OMIM:125520 a owl:Class ; @@ -378064,11 +394395,11 @@ OMIM:125520 a owl:Class ; PMID:9450869, PMID:9737780 ; RO:0002525 CHR:9606chr22q11 ; - oboInOwl:hasDbXref UMLS:C0431406 ; oboInOwl:hasExactSynonym "asymmetric crying facies", "cayler cardiofacial syndrome", "depressor anguli oris muscle, hypoplasia of", "facial paresis, partial, unilateral" ; + skos:exactMatch UMLS:C0431406 ; biolink:category biolink:Disease . OMIM:125700 a owl:Class ; @@ -378097,10 +394428,10 @@ OMIM:125700 a owl:Class ; PMID:6591192, PMID:6638059, PMID:9661594 ; - oboInOwl:hasDbXref UMLS:C0687720 ; oboInOwl:hasExactSynonym "diabetes insipidus, cranial iia", "diabetes insipidus, neurohypophyseal", "diabetes insipidus, primary central" ; + skos:exactMatch UMLS:C0687720 ; biolink:category biolink:Disease . OMIM:125851 a owl:Class ; @@ -378116,12 +394447,12 @@ OMIM:125851 a owl:Class ; PMID:21104275, PMID:8446612, PMID:9662401 ; - oboInOwl:hasDbXref UMLS:C0342277, - ORPHA:552 ; oboInOwl:hasExactSynonym "MODY2", "maturity-onset diabetes of the young, iia 2", "mody, iia 2", "mody, glucokinase-related" ; + skos:exactMatch UMLS:C0342277, + ORPHA:552 ; biolink:category biolink:Disease . OMIM:126060 a owl:Class ; @@ -378149,15 +394480,16 @@ OMIM:126060 a owl:Class ; PMID:9554740 ; RO:0002525 CHR:9606chr5q14.1 ; RO:0003303 OMIM:613839 ; - oboInOwl:hasDbXref UMLS:C1333216, - UMLS:C1852082 ; oboInOwl:hasExactSynonym "DHFR", "dhfr pseudogenes", "dihydrofolate reductase", "dihydrofolate reductase pseudogenes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1719 ; - skos:exactMatch HGNC_symbol:DHFR ; + skos:exactMatch UMLS:C1333216, + UMLS:C1852082, + HGNC:2861, + HGNC_symbol:DHFR ; biolink:category biolink:Gene . OMIM:126065 a owl:Class ; @@ -378178,7 +394510,6 @@ OMIM:126065 a owl:Class ; PMID:8506296 ; RO:0002525 CHR:9606chr20q13.2 ; RO:0003303 OMIM:143880 ; - oboInOwl:hasDbXref UMLS:C1413862 ; oboInOwl:hasExactSynonym "1,25-dihydroxyvitamin d3 24-hydroxylase", "CYP24A1", "cytochrome p450, family 24, subfamily a, polypeptide 1", @@ -378186,7 +394517,9 @@ OMIM:126065 a owl:Class ; "vitamin d 24-hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1591 ; - skos:exactMatch HGNC_symbol:CYP24A1 ; + skos:exactMatch UMLS:C1413862, + HGNC:2602, + HGNC_symbol:CYP24A1 ; biolink:category biolink:Gene . OMIM:126200 a owl:Class ; @@ -378366,13 +394699,13 @@ OMIM:126200 a owl:Class ; PMID:9668164, PMID:9798743, PMID:9818947 ; - oboInOwl:hasDbXref UMLS:C1868685, - UMLS:C3888106 ; oboInOwl:hasExactSynonym "MS", "disseminated sclerosis", "multiple sclerosis, susceptibility to", "multiple sclerosis, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:126200 ; + skos:exactMatch UMLS:C1868685, + UMLS:C3888106 ; biolink:category biolink:Disease . OMIM:126453 a owl:Class ; @@ -378399,13 +394732,14 @@ OMIM:126453 a owl:Class ; PMID:8288248 ; RO:0002525 CHR:9606chr4p16.1 ; RO:0003303 OMIM:606798 ; - oboInOwl:hasDbXref UMLS:C1333255 ; oboInOwl:hasExactSynonym "DRD5", "dopamine receptor d1b", "dopamine receptor d5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1816 ; - skos:exactMatch HGNC_symbol:DRD5 ; + skos:exactMatch UMLS:C1333255, + HGNC:3026, + HGNC_symbol:DRD5 ; biolink:category biolink:Gene . OMIM:126550 a owl:Class ; @@ -378416,12 +394750,12 @@ OMIM:126550 a owl:Class ; PMID:30779713, PMID:6517811, PMID:8958616 ; - oboInOwl:hasDbXref UMLS:C1852022, - UMLS:C5193004 ; oboInOwl:hasExactSynonym "CDL", "calvarial doughnut lesions with bone fragility", "calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia", "doughnut lesions of skull, familial" ; + skos:exactMatch UMLS:C1852022, + UMLS:C5193004 ; biolink:category biolink:Disease . OMIM:126600 a owl:Class ; @@ -378443,14 +394777,14 @@ OMIM:126600 a owl:Class ; PMID:7713248, PMID:8573024, PMID:8817347 ; - oboInOwl:hasDbXref UMLS:C1832174, - UMLS:C1852020, - ORPHA:75376 ; oboInOwl:hasExactSynonym "DHRD", "doyne honeycomb degeneration of retina", "doyne honeycomb retinal dystrophy", "drusen, radial, autosomal dominant", "malattia leventinese" ; + skos:exactMatch UMLS:C1832174, + UMLS:C1852020, + ORPHA:75376 ; biolink:category biolink:Disease . OMIM:126800 a owl:Class ; @@ -378475,8 +394809,6 @@ OMIM:126800 a owl:Class ; PMID:7849713, PMID:9781021 ; RO:0002525 CHR:9606chr8q13 ; - oboInOwl:hasDbXref UMLS:C0013261, - UMLS:C0994516 ; oboInOwl:hasExactSynonym "DURS1", "drs", "duane anomaly", @@ -378484,6 +394816,8 @@ OMIM:126800 a owl:Class ; "duane syndrome", "retraction syndrome" ; rdfs:subClassOf OMIMPS:126800 ; + skos:exactMatch UMLS:C0013261, + UMLS:C0994516 ; biolink:category biolink:Disease . OMIM:126900 a owl:Class ; @@ -378504,13 +394838,13 @@ OMIM:126900 a owl:Class ; PMID:7307318, PMID:8151643 ; RO:0002525 CHR:9606chr16q11.1-q22 ; - oboInOwl:hasDbXref UMLS:C0013312, - UMLS:C1851997, - UMLS:C1851998 ; oboInOwl:hasExactSynonym "dupuytren contracture", "dupuytren contracture 1", "plantar fibromas", "plantar fibromatosis, familial" ; + skos:exactMatch UMLS:C0013312, + UMLS:C1851997, + UMLS:C1851998 ; biolink:category biolink:Disease . OMIM:127000 a owl:Class ; @@ -378528,21 +394862,21 @@ OMIM:127000 a owl:Class ; PMID:6342392, PMID:7215388, PMID:9805124 ; - oboInOwl:hasDbXref UMLS:C4316787 ; oboInOwl:hasExactSynonym "KCS2", "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia", "kenny syndrome", "kenny-caffey syndrome, iia 2" ; rdfs:subClassOf OMIMPS:127000 ; + skos:exactMatch UMLS:C4316787 ; biolink:category biolink:Disease . OMIM:127100 a owl:Class ; rdfs:label "dwarfism, levi iia" ; IAO:0000142 PMID:13783175, PMID:13869653 ; - oboInOwl:hasDbXref UMLS:C1851994 ; oboInOwl:hasExactSynonym "dwarfism, levi iia", - "snub-nosed iia of dwarfism" . + "snub-nosed iia of dwarfism" ; + skos:exactMatch UMLS:C1851994 . OMIM:127400 a owl:Class ; rdfs:label "dyschromatosis symmetrica hereditaria" ; @@ -378558,13 +394892,13 @@ OMIM:127400 a owl:Class ; PMID:7911621, PMID:9125769, PMID:9366859 ; - oboInOwl:hasDbXref UMLS:C0406775 ; oboInOwl:hasExactSynonym "DSH", "dyschromatosis symmetrica hereditaria", "dyschromatosis symmetrica hereditaria 1", "reticulate acropigmentation of dohi", "symmetric dyschromatosis of the extremities" ; rdfs:subClassOf OMIMPS:179850 ; + skos:exactMatch UMLS:C0406775 ; biolink:category biolink:Disease . OMIM:127600 a owl:Class ; @@ -378581,10 +394915,10 @@ OMIM:127600 a owl:Class ; PMID:550801, PMID:5640851 ; RO:0002525 CHR:9606chr4q35 ; - oboInOwl:hasDbXref UMLS:C0265966 ; oboInOwl:hasExactSynonym "HBID", "dkbi", "dyskeratosis, hereditary benign intraepithelial" ; + skos:exactMatch UMLS:C0265966 ; biolink:category biolink:Disease . OMIM:127700 a owl:Class ; @@ -378627,15 +394961,15 @@ OMIM:127700 a owl:Class ; PMID:9482939, PMID:962317, PMID:9634517 ; - oboInOwl:hasDbXref UMLS:C1851967, - UMLS:C1851968, - UMLS:C1851969 ; oboInOwl:hasExactSynonym "DYX1", "dyslexia, susceptibility to, 1", "dyslexia, susceptibility to, 4", "dyslexia, susceptibility to, 7", "reading disability, specific, 1", "word-blindness, congenital" ; + skos:exactMatch UMLS:C1851967, + UMLS:C1851968, + UMLS:C1851969 ; biolink:category biolink:Disease . OMIM:127750 a owl:Class ; @@ -378671,15 +395005,15 @@ OMIM:127750 a owl:Class ; PMID:9276199, PMID:9382476, PMID:9705138 ; - oboInOwl:hasDbXref UMLS:C0752347, - UMLS:C1851957, - UMLS:C1851958 ; oboInOwl:hasExactSynonym "DLB", "dementia, lewy body", "diffuse lewy body disease", "diffuse lewy body disease with gaze palsy", "lewy body dementia", "lewy body variant of alzheimer disease" ; + skos:exactMatch UMLS:C0752347, + UMLS:C1851957, + UMLS:C1851958 ; biolink:category biolink:Disease . OMIM:128101 a owl:Class ; @@ -378691,12 +395025,12 @@ OMIM:128101 a owl:Class ; PMID:3156966, PMID:3405308, PMID:8432555 ; - oboInOwl:hasDbXref UMLS:C1851943 ; oboInOwl:hasExactSynonym "DYT4", "dystonia 4, torsion, autosomal dominant", "dystonia musculorum deformans 4", "whispering dysphonia, hereditary" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1851943 ; biolink:category biolink:Disease . OMIM:128200 a owl:Class ; @@ -378720,7 +395054,6 @@ OMIM:128200 a owl:Class ; PMID:6067487, PMID:718486, PMID:7206405 ; - oboInOwl:hasDbXref UMLS:C4552000 ; oboInOwl:hasExactSynonym "EKD1", "dystonia 10", "dystonia, familial paroxysmal", @@ -378729,6 +395062,7 @@ OMIM:128200 a owl:Class ; "paroxysmal kinesigenic dyskinesia" ; rdfs:subClassOf OMIMPS:128100, OMIMPS:128200 ; + skos:exactMatch UMLS:C4552000 ; biolink:category biolink:Disease . OMIM:128230 a owl:Class ; @@ -378762,8 +395096,6 @@ OMIM:128230 a owl:Class ; PMID:945938, PMID:9566388, PMID:9585358 ; - oboInOwl:hasDbXref UMLS:C1851920, - ORPHA:98808 ; oboInOwl:hasExactSynonym "DRD", "dopa-responsive dystonia, autosomal dominant", "dystonia 5", @@ -378773,6 +395105,8 @@ OMIM:128230 a owl:Class ; "dystonia-parkinsonism with diurnal fluctuation", "segawa syndrome, autosomal dominant" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1851920, + ORPHA:98808 ; biolink:category biolink:Disease . OMIM:128235 a owl:Class ; @@ -378792,11 +395126,11 @@ OMIM:128235 a owl:Class ; PMID:8684384, PMID:9109901, PMID:9750930 ; - oboInOwl:hasDbXref UMLS:C1868681 ; oboInOwl:hasExactSynonym "DYT12", "dystonia 12", "dystonia-parkinsonism, rapid-onset" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1868681 ; biolink:category biolink:Disease . OMIM:128239 a owl:Class ; @@ -378841,9 +395175,6 @@ OMIM:128239 a owl:Class ; PMID:9874652 ; RO:0002525 CHR:9606chr3p21.31 ; RO:0003303 OMIM:613818 ; - oboInOwl:hasDbXref UMLS:C1413902, - UMLS:C3151184, - UMLS:C4225291 ; oboInOwl:hasExactSynonym "DAG1", "agrin receptor", "dag", @@ -378853,7 +395184,11 @@ OMIM:128239 a owl:Class ; "dystrophin-associated glycoprotein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1605 ; - skos:exactMatch HGNC_symbol:DAG1 ; + skos:exactMatch UMLS:C1413902, + UMLS:C3151184, + UMLS:C4225291, + HGNC:2666, + HGNC_symbol:DAG1 ; biolink:category biolink:Gene . OMIM:128700 a owl:Class ; @@ -378867,18 +395202,18 @@ OMIM:128700 a owl:Class ; PMID:5799333, PMID:7166595 ; RO:0002525 CHR:9606chr8q11.1-q13.3 ; - oboInOwl:hasDbXref UMLS:C0546969 ; oboInOwl:hasExactSynonym "ear pits", "pafc", "preauricular fistulae, congenital" ; + skos:exactMatch UMLS:C0546969 ; biolink:category biolink:Disease . OMIM:129150 a owl:Class ; rdfs:label "echo virus 11 sensitivity" ; IAO:0000142 PMID:3034518 ; - oboInOwl:hasDbXref UMLS:C1851888 ; oboInOwl:hasExactSynonym "E11S", "echo virus 11 sensitivity" ; + skos:exactMatch UMLS:C1851888 ; biolink:category biolink:Disease . OMIM:129500 a owl:Class ; @@ -378901,13 +395236,13 @@ OMIM:129500 a owl:Class ; PMID:9139825, PMID:9215774, PMID:9665391 ; - oboInOwl:hasDbXref UMLS:C0162361 ; oboInOwl:hasExactSynonym "clouston hidrotic ectodermal dysplasia", "clouston syndrome", "ectodermal dysplasia 2, clouston iia", "ectodermal dysplasia, hidrotic, 2, formerly", "ectodermal dysplasia, hidrotic, autosomal dominant" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C0162361 ; biolink:category biolink:Disease . OMIM:129900 a owl:Class ; @@ -378947,11 +395282,11 @@ OMIM:129900 a owl:Class ; PMID:9066885, PMID:957377 ; RO:0002525 CHR:9606chr7q11.2-q21.3 ; - oboInOwl:hasDbXref UMLS:C1851841 ; oboInOwl:hasExactSynonym "EEC1", "ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1", "eec", "eec syndrome 1" ; + skos:exactMatch UMLS:C1851841 ; biolink:category biolink:Disease . OMIM:130010 a owl:Class ; @@ -378964,7 +395299,6 @@ OMIM:130010 a owl:Class ; PMID:9042913, PMID:9425231, PMID:9783710 ; - oboInOwl:hasDbXref UMLS:C4538407 ; oboInOwl:hasExactSynonym "EDSCL2", "eds ii, formerly", "ehlers Danlos syndrome, mild classic type, formerly", @@ -378972,6 +395306,7 @@ OMIM:130010 a owl:Class ; "ehlers-danlos syndrome, iia ii, formerly", "ehlers-danlos syndrome, classic type, 2" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C4538407 ; biolink:category biolink:Disease . OMIM:130050 a owl:Class ; @@ -379027,7 +395362,6 @@ OMIM:130050 a owl:Class ; PMID:9050868, PMID:9390355, PMID:9612531 ; - oboInOwl:hasDbXref UMLS:C0268338 ; oboInOwl:hasExactSynonym "EDSVASC", "eds 4", "ehlers-danlos syndrome, iia iv, autosomal dominant", @@ -379036,6 +395370,7 @@ OMIM:130050 a owl:Class ; "ehlers-danlos syndrome, sack-barabas iia", "ehlers-danlos syndrome, vascular iia" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C0268338 ; biolink:category biolink:Disease . OMIM:130070 a owl:Class ; @@ -379056,7 +395391,6 @@ OMIM:130070 a owl:Class ; PMID:519906, PMID:7307320, PMID:7526939 ; - oboInOwl:hasDbXref UMLS:C4552003 ; oboInOwl:hasExactSynonym "EDSSPD1", "dermatan sulfate proteoglycan", "ehlers-danlos syndrome with short stature and limb anomalies", @@ -379068,6 +395402,7 @@ OMIM:130070 a owl:Class ; "xgpt deficiency", "xylosylprotein 4-beta-galactosyltransferase deficiency" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C4552003 ; biolink:category biolink:Disease . OMIM:130080 a owl:Class ; @@ -379088,9 +395423,6 @@ OMIM:130080 a owl:Class ; PMID:7263975, PMID:8494762, PMID:9557891 ; - oboInOwl:hasDbXref UMLS:C0268347, - UMLS:C4551499, - ORPHA:75392 ; oboInOwl:hasExactSynonym "EDSPD1", "eds 8", "ehlers-danlos syndrome, iia 8", @@ -379098,6 +395430,9 @@ OMIM:130080 a owl:Class ; "ehlers-danlos syndrome, periodontitis iia", "ehlers-danlos syndrome, periodontosis iia" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C0268347, + UMLS:C4551499, + ORPHA:75392 ; biolink:category biolink:Disease . OMIM:130130 a owl:Class ; @@ -379145,7 +395480,6 @@ OMIM:130130 a owl:Class ; PMID:9585238 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:202700 ; - oboInOwl:hasDbXref UMLS:C1414369 ; oboInOwl:hasExactSynonym "ELANE", "elastase 2", "elastase, leukocyte", @@ -379157,7 +395491,9 @@ OMIM:130130 a owl:Class ; "protease, serine, bone marrow" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1991 ; - skos:exactMatch HGNC_symbol:ELANE ; + skos:exactMatch UMLS:C1414369, + HGNC:3309, + HGNC_symbol:ELANE ; biolink:category biolink:Gene . OMIM:130180 a owl:Class ; @@ -379168,10 +395504,10 @@ OMIM:130180 a owl:Class ; PMID:1859177, PMID:5770378 ; RO:0002525 CHR:9606chr20q13.2-q13.3 ; - oboInOwl:hasDbXref UMLS:C1851759 ; oboInOwl:hasExactSynonym "eeg, low-voltage", "electroencephalogram, low-voltage", "electroencephalographic variant pattern 1" ; + skos:exactMatch UMLS:C1851759 ; biolink:category biolink:Disease . OMIM:130650 a owl:Class ; @@ -379337,17 +395673,17 @@ OMIM:130650 a owl:Class ; PMID:9725306, PMID:976281, PMID:9829550 ; - oboInOwl:hasDbXref UMLS:C0004903, - UMLS:C1851719, - ORPHA:116, - ORPHA:231120, - ORPHA:238613 ; oboInOwl:hasExactSynonym "BWS", "beckwith-wiedemann syndrome", "beckwith-wiedemann syndrome chromosome region", "emg syndrome", "exomphalos-macroglossia-gigantism syndrome", "wiedemann-beckwith syndrome" ; + skos:exactMatch UMLS:C0004903, + UMLS:C1851719, + ORPHA:116, + ORPHA:231120, + ORPHA:238613 ; biolink:category biolink:Disease . OMIM:130900 a owl:Class ; @@ -379362,22 +395698,23 @@ OMIM:130900 a owl:Class ; PMID:19407157, PMID:3169793, PMID:4510007 ; - oboInOwl:hasDbXref UMLS:C0399376 ; oboInOwl:hasExactSynonym "AI3A", "amelogenesis imperfecta, iia 3", "amelogenesis imperfecta, iia 3a", "amelogenesis imperfecta, hypocalcification type, autosomal dominant", "amelogenesis imperfecta, hypomineralization iia" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C0399376 ; biolink:category biolink:Disease . OMIM:131375 a owl:Class ; rdfs:label "enolase, sperm specific" ; IAO:0000142 PMID:6864646 ; - oboInOwl:hasDbXref UMLS:C3888311 ; oboInOwl:hasExactSynonym "ENO4", "enolase, sperm specific" ; - skos:exactMatch HGNC_symbol:ENO4 . + skos:exactMatch UMLS:C3888311, + HGNC:31670, + HGNC_symbol:ENO4 . OMIM:131400 a owl:Class ; rdfs:label "eosinophilia, familial" ; @@ -379388,9 +395725,9 @@ OMIM:131400 a owl:Class ; PMID:9508242, PMID:9758611 ; RO:0002525 CHR:9606chr5q31-q33 ; - oboInOwl:hasDbXref UMLS:C0272192 ; oboInOwl:hasExactSynonym "eos", "eosinophilia, familial" ; + skos:exactMatch UMLS:C0272192 ; biolink:category biolink:Disease . OMIM:131410 a owl:Class ; @@ -379402,14 +395739,15 @@ OMIM:131410 a owl:Class ; PMID:2387583, PMID:2734298, PMID:3348220 ; - oboInOwl:hasDbXref UMLS:C1419408 ; oboInOwl:hasExactSynonym "RNASE2", "eosinophil-derived neurotoxin", "ribonuclease, rnase a family, 2", "rns2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6036 ; - skos:exactMatch HGNC_symbol:RNASE2 ; + skos:exactMatch UMLS:C1419408, + HGNC:10045, + HGNC_symbol:RNASE2 ; biolink:category biolink:Gene . OMIM:131530 a owl:Class ; @@ -379433,13 +395771,14 @@ OMIM:131530 a owl:Class ; PMID:6382023 ; RO:0002525 CHR:9606chr4q25 ; RO:0003303 OMIM:611718 ; - oboInOwl:hasDbXref UMLS:C1367721 ; oboInOwl:hasExactSynonym "EGF", "epidermal growth factor", "urogastrone" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1950 ; - skos:exactMatch HGNC_symbol:EGF ; + skos:exactMatch UMLS:C1367721, + HGNC:3229, + HGNC_symbol:EGF ; biolink:category biolink:Gene . OMIM:131705 a owl:Class ; @@ -379452,11 +395791,11 @@ OMIM:131705 a owl:Class ; PMID:8345225, PMID:9406826, PMID:9856844 ; - oboInOwl:hasDbXref UMLS:C1851573 ; oboInOwl:hasExactSynonym "TBDN", "dystrophic epidermolysis bullosa, neonatal", "epidermolysis bullosa dystrophica, neonatal form", "transient bullous dermolysis of the newborn" ; + skos:exactMatch UMLS:C1851573 ; biolink:category biolink:Disease . OMIM:131960 a owl:Class ; @@ -379471,12 +395810,12 @@ OMIM:131960 a owl:Class ; PMID:8799157, PMID:9129237, PMID:939040 ; - oboInOwl:hasDbXref UMLS:C0432316 ; oboInOwl:hasExactSynonym "EBS2F", "epidermolysis bullosa simplex 2f, with mottled pigmentation", "epidermolysis bullosa simplex with mottled pigmentation", "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C0432316 ; biolink:category biolink:Disease . OMIM:132600 a owl:Class ; @@ -379489,11 +395828,11 @@ OMIM:132600 a owl:Class ; PMID:30119102, PMID:4162862, PMID:9557902 ; - oboInOwl:hasDbXref UMLS:C0206711, - ORPHA:91414 ; oboInOwl:hasExactSynonym "epithelioma calcificans of malherbe", "pilomatricoma", "pilomatrixoma" ; + skos:exactMatch UMLS:C0206711, + ORPHA:91414 ; biolink:category biolink:Disease . OMIM:132700 a owl:Class ; @@ -379520,11 +395859,11 @@ OMIM:132700 a owl:Class ; PMID:8071959, PMID:8649842, PMID:9783709 ; - oboInOwl:hasDbXref UMLS:C1305968 ; oboInOwl:hasExactSynonym "'turban tumor' syndrome", "ancell-spiegler cylindromas", "cylindromas, dermal eccrine", "cylindromatosis, familial" ; + skos:exactMatch UMLS:C1305968 ; biolink:category biolink:Disease . OMIM:132800 a owl:Class ; @@ -379540,11 +395879,11 @@ OMIM:132800 a owl:Class ; PMID:8499949, PMID:9439661, PMID:9722951 ; - oboInOwl:hasDbXref UMLS:C4083047 ; oboInOwl:hasExactSynonym "MSSE", "ess1, formerly", "ferguson-smith-type epithelioma", "multiple self-healing squamous epithelioma, susceptibility to" ; + skos:exactMatch UMLS:C4083047 ; biolink:category biolink:Disease . OMIM:132850 a owl:Class ; @@ -379559,11 +395898,12 @@ OMIM:132850 a owl:Class ; PMID:6300885, PMID:6324583, PMID:946170 ; - oboInOwl:hasDbXref UMLS:C1414241 ; oboInOwl:hasExactSynonym "EBVS1", "epstein-barr virus insertion site 1", "epstein-barr virus integration site" ; - skos:exactMatch HGNC_symbol:EBVS1 . + skos:exactMatch UMLS:C1414241, + HGNC:3143, + HGNC_symbol:EBVS1 . OMIM:132890 a owl:Class ; rdfs:label "NR2F1" ; @@ -379579,7 +395919,6 @@ OMIM:132890 a owl:Class ; PMID:8530078 ; RO:0002525 CHR:9606chr5q15 ; RO:0003303 OMIM:615722 ; - oboInOwl:hasDbXref UMLS:C1417833 ; oboInOwl:hasExactSynonym "NR2F1", "chicken ovalbumin upstream promoter transcription factor 1", "erba-related 3", @@ -379588,7 +395927,9 @@ OMIM:132890 a owl:Class ; "v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7025 ; - skos:exactMatch HGNC_symbol:NR2F1 ; + skos:exactMatch UMLS:C1417833, + HGNC:7975, + HGNC_symbol:NR2F1 ; biolink:category biolink:Gene . OMIM:133020 a owl:Class ; @@ -379617,14 +395958,14 @@ OMIM:133020 a owl:Class ; PMID:8451013, PMID:8465864, PMID:8721588 ; - oboInOwl:hasDbXref UMLS:C0014805, - UMLS:C3276706, - ORPHA:306577, - ORPHA:90026 ; oboInOwl:hasExactSynonym "erythermalgia, primary", "erythromelalgia, familial", "erythromelalgia, primary", "neuropathy, small fiber" ; + skos:exactMatch UMLS:C0014805, + UMLS:C3276706, + ORPHA:306577, + ORPHA:90026 ; biolink:category biolink:Disease . OMIM:133100 a owl:Class ; @@ -379647,12 +395988,12 @@ OMIM:133100 a owl:Class ; PMID:8093406, PMID:9292543, PMID:9649565 ; - oboInOwl:hasDbXref UMLS:C4551637 ; oboInOwl:hasExactSynonym "ECYT1", "erythrocytosis, autosomal dominant benign", "erythrocytosis, familial, 1", "polycythemia, primary familial and congenital" ; rdfs:subClassOf OMIMPS:133100 ; + skos:exactMatch UMLS:C4551637 ; biolink:category biolink:Disease . OMIM:133180 a owl:Class ; @@ -379669,11 +396010,11 @@ OMIM:133180 a owl:Class ; PMID:6589033, PMID:6948132, PMID:8608241 ; - oboInOwl:hasDbXref UMLS:C4746575 ; oboInOwl:hasExactSynonym "FERLK", "di guglielmo disease, familial", "erythroleukemia, familial, susceptibility to", "leukemia, acute myelogenous, m6" ; + skos:exactMatch UMLS:C4746575 ; biolink:category biolink:Disease . OMIM:133440 a owl:Class ; @@ -379697,7 +396038,6 @@ OMIM:133440 a owl:Class ; PMID:9878069 ; RO:0002525 CHR:9606chr4q23 ; RO:0003303 OMIM:615091 ; - oboInOwl:hasDbXref UMLS:C1414351 ; oboInOwl:hasExactSynonym "EIF4E", "eif4e family, member 1", "eif4e-like 1", @@ -379706,7 +396046,9 @@ OMIM:133440 a owl:Class ; "messenger RNA cap-binding protein eif4e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1977 ; - skos:exactMatch HGNC_symbol:EIF4E ; + skos:exactMatch UMLS:C1414351, + HGNC:3287, + HGNC_symbol:EIF4E ; biolink:category biolink:Gene . OMIM:133700 a owl:Class ; @@ -379755,8 +396097,6 @@ OMIM:133700 a owl:Class ; PMID:9326317, PMID:9463333, PMID:9521425 ; - oboInOwl:hasDbXref UMLS:C0015306, - ORPHA:321 ; oboInOwl:hasExactSynonym "EXT1", "diaphyseal aclasis", "exostoses, multiple, iia 1", @@ -379764,6 +396104,8 @@ OMIM:133700 a owl:Class ; "multiple cartilaginous exostoses", "multiple osteochondromas", "osteochondromatosis" ; + skos:exactMatch UMLS:C0015306, + ORPHA:321 ; biolink:category biolink:Disease . OMIM:133780 a owl:Class ; @@ -379799,8 +396141,6 @@ OMIM:133780 a owl:Class ; PMID:7362811, PMID:8020986, PMID:947162 ; - oboInOwl:hasDbXref UMLS:C0035344, - UMLS:C1851402 ; oboInOwl:hasExactSynonym "EVR1", "criswick-schepens syndrome", "exudative vitreoretinopathy 1", @@ -379808,6 +396148,8 @@ OMIM:133780 a owl:Class ; "fevr, autosomal dominant", "retinopathy of prematurity" ; rdfs:subClassOf OMIMPS:133780 ; + skos:exactMatch UMLS:C0035344, + UMLS:C1851402 ; biolink:category biolink:Disease . OMIM:134634 a owl:Class ; @@ -379845,8 +396187,6 @@ OMIM:134660 a owl:Class ; PMID:9092542, PMID:9802266, PMID:9802272 ; - oboInOwl:hasDbXref UMLS:C0919451, - UMLS:C1415339 ; oboInOwl:hasExactSynonym "GSTP1", "fatty acid ethyl ester synthase iii, myocardial", "glutathione s-transferase 3", @@ -379855,7 +396195,10 @@ OMIM:134660 a owl:Class ; "gst, class pi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2950 ; - skos:exactMatch HGNC_symbol:GSTP1 ; + skos:exactMatch UMLS:C0919451, + UMLS:C1415339, + HGNC:4638, + HGNC_symbol:GSTP1 ; biolink:category biolink:Gene . OMIM:134720 a owl:Class ; @@ -379864,9 +396207,9 @@ OMIM:134720 a owl:Class ; PMID:11343301, PMID:7959761, PMID:8401591 ; - oboInOwl:hasDbXref UMLS:C1851318 ; oboInOwl:hasExactSynonym "fecb", - "fecundity gene, booroola, of sheep, homolog of" . + "fecundity gene, booroola, of sheep, homolog of" ; + skos:exactMatch UMLS:C1851318 . OMIM:134935 a owl:Class ; rdfs:label "FGFR4" ; @@ -379885,13 +396228,14 @@ OMIM:134935 a owl:Class ; PMID:7959747, PMID:9457674 ; RO:0002525 CHR:9606chr5q35.2 ; - oboInOwl:hasDbXref UMLS:C1333544 ; oboInOwl:hasExactSynonym "FGFR4", "fibroblast growth factor receptor 4", "tyrosine kinase related to fibroblast growth factor receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2264 ; - skos:exactMatch HGNC_symbol:FGFR4 ; + skos:exactMatch UMLS:C1333544, + HGNC:3691, + HGNC_symbol:FGFR4 ; biolink:category biolink:Gene . OMIM:135100 a owl:Class ; @@ -379939,9 +396283,9 @@ OMIM:135100 a owl:Class ; PMID:8758048, PMID:8834042, PMID:957379 ; - oboInOwl:hasDbXref UMLS:C0016037 ; oboInOwl:hasExactSynonym "FOP", "fibrodysplasia ossificans progressiva" ; + skos:exactMatch UMLS:C0016037 ; biolink:category biolink:Disease . OMIM:135400 a owl:Class ; @@ -379960,7 +396304,6 @@ OMIM:135400 a owl:Class ; PMID:8950682, PMID:895164 ; RO:0002525 CHR:9606chr17q24.2-q24.3 ; - oboInOwl:hasDbXref UMLS:C1851120 ; oboInOwl:hasExactSynonym "HTC3", "chromosome 17q24.2-q24.3 deletion syndrome", "chromosome 17q24.2-q24.3 duplication syndrome", @@ -379969,6 +396312,7 @@ OMIM:135400 a owl:Class ; "hypertrichosis, congenital generalized, with or without gingival hyperplasia", "microdeletion 17q24.2-q24.3 syndrome", "microduplication 17q24.2-q24.3 syndrome" ; + skos:exactMatch UMLS:C1851120 ; biolink:category biolink:Disease . OMIM:135500 a owl:Class ; @@ -379996,12 +396340,12 @@ OMIM:135500 a owl:Class ; PMID:5216911, PMID:8775419, PMID:9674908 ; - oboInOwl:hasDbXref UMLS:C4551773 ; oboInOwl:hasExactSynonym "ZLS1", "fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly", "laband syndrome", "zimmermann-laband syndrome 1" ; rdfs:subClassOf OMIMPS:135500 ; + skos:exactMatch UMLS:C4551773 ; biolink:category biolink:Disease . OMIM:135630 a owl:Class ; @@ -380034,7 +396378,6 @@ OMIM:135630 a owl:Class ; PMID:2963381, PMID:30258227, PMID:3028640 ; - oboInOwl:hasDbXref UMLS:C1416496 ; oboInOwl:hasExactSynonym "ITGB1", "cd29", "fibronectin receptor, beta subunit", @@ -380045,7 +396388,9 @@ OMIM:135630 a owl:Class ; "vla-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3688 ; - skos:exactMatch HGNC_symbol:ITGB1 ; + skos:exactMatch UMLS:C1416496, + HGNC:6153, + HGNC_symbol:ITGB1 ; biolink:category biolink:Gene . OMIM:136140 a owl:Class ; @@ -380075,9 +396420,9 @@ OMIM:136140 a owl:Class ; PMID:8985732, PMID:9401100, PMID:9508066 ; - oboInOwl:hasDbXref UMLS:C0729582 ; oboInOwl:hasExactSynonym "FLHS", "floating-harbor syndrome" ; + skos:exactMatch UMLS:C0729582 ; biolink:category biolink:Disease . OMIM:136351 a owl:Class ; @@ -380113,14 +396458,15 @@ OMIM:136351 a owl:Class ; PMID:8946930 ; RO:0002525 CHR:9606chr13q12.2 ; RO:0003303 OMIM:601626 ; - oboInOwl:hasDbXref UMLS:C1333568 ; oboInOwl:hasExactSynonym "FLT3", "flk2", "fms-related tyrosine kinase 3", "stem cell tyrosine kinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2322 ; - skos:exactMatch HGNC_symbol:FLT3 ; + skos:exactMatch UMLS:C1333568, + HGNC:3765, + HGNC_symbol:FLT3 ; biolink:category biolink:Gene . OMIM:136550 a owl:Class ; @@ -380153,26 +396499,28 @@ OMIM:136550 a owl:Class ; PMID:9719369, PMID:9801042, PMID:9924305 ; - oboInOwl:hasDbXref UMLS:C0730294, - ORPHA:75327 ; oboInOwl:hasExactSynonym "MCDR1", "central areolar pigment epithelial dystrophy", "foveal dystrophy, progressive, formerly", "macular dystrophy, retinal, 1, north carolina iia", "north carolina macular dystrophy", "retinal pigment epithelial dystrophy, central" ; + skos:exactMatch UMLS:C0730294, + ORPHA:75327 ; biolink:category biolink:Disease . OMIM:136630 a owl:Class ; - rdfs:label "mental retardation, fra12a iia" ; + rdfs:label "intellectual developmental disorder, fra12a iia" ; IAO:0000142 PMID:1033912, PMID:10955484, PMID:17236128, PMID:3742859, PMID:4042396, PMID:7194847 ; - oboInOwl:hasDbXref UMLS:C1969893 ; - oboInOwl:hasExactSynonym "mental retardation, fra12a iia" ; + oboInOwl:hasExactSynonym "intellectual developmental disorder, fra12a iia", + "mental retardation, fra12a iia" ; + rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C1969893 ; biolink:category biolink:Disease . OMIM:136820 a owl:Class ; @@ -380187,14 +396535,15 @@ OMIM:136820 a owl:Class ; PMID:6590153, PMID:6885067, PMID:7106758 ; - oboInOwl:hasDbXref UMLS:C1414859 ; oboInOwl:hasExactSynonym "FUCA2", "alpha-l-fucosidase 2", "fucosidase, alpha-l, 2", "fucosidase, alpha-l, plasma" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2519 ; - skos:exactMatch HGNC_symbol:FUCA2 ; + skos:exactMatch UMLS:C1414859, + HGNC:4008, + HGNC_symbol:FUCA2 ; biolink:category biolink:Gene . OMIM:136900 a owl:Class ; @@ -380220,11 +396569,11 @@ OMIM:136900 a owl:Class ; PMID:7920634, PMID:8919688, PMID:8981947 ; - oboInOwl:hasDbXref UMLS:C1850938 ; oboInOwl:hasExactSynonym "SFD", "fundus dystrophy, pseudoinflammatory, of sorsby", "macular dystrophy, hemorrhagic", "sorsby fundus dystrophy" ; + skos:exactMatch UMLS:C1850938 ; biolink:category biolink:Disease . OMIM:137030 a owl:Class ; @@ -380236,8 +396585,6 @@ OMIM:137030 a owl:Class ; PMID:30910422 ; RO:0002525 CHR:9606chr2p22.1 ; RO:0003303 OMIM:618881 ; - oboInOwl:hasDbXref UMLS:C1428343, - UMLS:C5394377 ; oboInOwl:hasExactSynonym "GALM", "aldose 1-epimerase", "gal plus activator", @@ -380245,7 +396592,10 @@ OMIM:137030 a owl:Class ; "galactose mutarotase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:130589 ; - skos:exactMatch HGNC_symbol:GALM ; + skos:exactMatch UMLS:C1428343, + UMLS:C5394377, + HGNC:24063, + HGNC_symbol:GALM ; biolink:category biolink:Gene . OMIM:137060 a owl:Class ; @@ -380268,7 +396618,6 @@ OMIM:137060 a owl:Class ; PMID:9597550 ; RO:0002525 CHR:9606chr9p21.1 ; RO:0003303 OMIM:607091 ; - oboInOwl:hasDbXref UMLS:C1412719 ; oboInOwl:hasExactSynonym "B4GALT1", "beta-1,4-galactosyltransferase 1", "galactosyltransferase 1", @@ -380278,7 +396627,9 @@ OMIM:137060 a owl:Class ; "udp-gal:beta-glcnac beta-1,4-galactosyltransferase, polypeptide 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2683 ; - skos:exactMatch HGNC_symbol:B4GALT1 ; + skos:exactMatch UMLS:C1412719, + HGNC:924, + HGNC_symbol:B4GALT1 ; biolink:category biolink:Gene . OMIM:137100 a owl:Class ; @@ -380313,12 +396664,12 @@ OMIM:137100 a owl:Class ; PMID:8070814, PMID:807270 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C2931161 ; oboInOwl:hasExactSynonym "IGAD1", "gamma-a-globulin, selective deficiency of", "iga, selective deficiency of", "immunoglobulin a deficiency 1", "immunoglobulin a, selective deficiency of" ; + skos:exactMatch UMLS:C2931161 ; biolink:category biolink:Disease . OMIM:137200 a owl:Class ; @@ -380327,12 +396678,12 @@ OMIM:137200 a owl:Class ; PMID:1851512, PMID:22961002, PMID:5863557 ; - oboInOwl:hasDbXref UMLS:C0242287, - ORPHA:324442 ; oboInOwl:hasExactSynonym "NMAN", "gamstorp-wohlfart syndrome", "myokymia, myotonia, and muscle wasting", "neuromyotonia and axonal neuropathy, autosomal recessive" ; + skos:exactMatch UMLS:C0242287, + ORPHA:324442 ; biolink:category biolink:Disease . OMIM:137440 a owl:Class ; @@ -380365,9 +396716,6 @@ OMIM:137440 a owl:Class ; PMID:8570627, PMID:8698234, PMID:9932941 ; - oboInOwl:hasDbXref UMLS:C0017495, - UMLS:C2931022, - ORPHA:356 ; oboInOwl:hasExactSynonym "GSD", "amyloidosis, cerebral, with spongiform encephalopathy", "cerebellar ataxia, progressive dementia, and amyloid deposits 1n cns", @@ -380376,6 +396724,9 @@ OMIM:137440 a owl:Class ; "gerstmann-straussler disease", "gerstmann-straussler-scheinker disease", "prion dementia" ; + skos:exactMatch UMLS:C0017495, + UMLS:C2931022, + ORPHA:356 ; biolink:category biolink:Disease . OMIM:137750 a owl:Class ; @@ -380415,12 +396766,12 @@ OMIM:137750 a owl:Class ; PMID:9222961, PMID:9535666, PMID:9535674 ; - oboInOwl:hasDbXref UMLS:C1825363, - UMLS:C1842028 ; oboInOwl:hasExactSynonym "GLC1A", "glaucoma 1, open angle, 50", "glaucoma 1, open angle, a", "glaucoma, primary open angle, juvenile-onset, 1" ; + skos:exactMatch UMLS:C1825363, + UMLS:C1842028 ; biolink:category biolink:Disease . OMIM:137940 a owl:Class ; @@ -380431,13 +396782,13 @@ OMIM:137940 a owl:Class ; PMID:24697860, PMID:2484451, PMID:3435166 ; - oboInOwl:hasDbXref UMLS:C1841989, - UMLS:C4317151, - ORPHA:69735 ; oboInOwl:hasExactSynonym "HLTRS", "glomerulonephritis with sparse hair and telangiectases", "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "telangiectatic membranoproliferative glomerulonephritis" ; + skos:exactMatch UMLS:C1841989, + UMLS:C4317151, + ORPHA:69735 ; biolink:category biolink:Disease . OMIM:138000 a owl:Class ; @@ -380457,23 +396808,24 @@ OMIM:138000 a owl:Class ; PMID:4333915, PMID:9420534, PMID:9577316 ; - oboInOwl:hasDbXref UMLS:C1841984 ; oboInOwl:hasExactSynonym "GVM", "glomangiomas, multiple", "glomus tumors, multiple", "glomuvenous malformations", "venous malformations with glomus cells" ; + skos:exactMatch UMLS:C1841984 ; biolink:category biolink:Disease . OMIM:138060 a owl:Class ; rdfs:label "glucocorticoid receptor-like 1" ; IAO:0000142 PMID:2867473 ; - oboInOwl:hasDbXref UMLS:C1841967 ; oboInOwl:hasExactSynonym "GRLL1", "gcrl", "glucocorticoid receptor 2", "glucocorticoid receptor-like 1" ; - skos:exactMatch HGNC_symbol:NR3C1P1 . + skos:exactMatch UMLS:C1841967, + HGNC:4592, + HGNC_symbol:NR3C1P1 . OMIM:138090 a owl:Class ; rdfs:label "H6PD" ; @@ -380497,7 +396849,6 @@ OMIM:138090 a owl:Class ; PMID:950237 ; RO:0002525 CHR:9606chr1p36.22 ; RO:0003303 OMIM:604931 ; - oboInOwl:hasDbXref UMLS:C1415455 ; oboInOwl:hasExactSynonym "H6PD", "g6pd, h form", "gdh/6pgl endoplasmic bifunctional protein", @@ -380508,7 +396859,9 @@ OMIM:138090 a owl:Class ; "hexose-6-phosphate dehydrogenase precursor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9563 ; - skos:exactMatch HGNC_symbol:H6PD ; + skos:exactMatch UMLS:C1415455, + HGNC:4795, + HGNC_symbol:H6PD ; biolink:category biolink:Gene . OMIM:138130 a owl:Class ; @@ -380541,14 +396894,15 @@ OMIM:138130 a owl:Class ; PMID:9843361 ; RO:0002525 CHR:9606chr10q23.2 ; RO:0003303 OMIM:606762 ; - oboInOwl:hasDbXref UMLS:C1415113 ; oboInOwl:hasExactSynonym "GLUD1", "gdh", "glud", "glutamate dehydrogenase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2746 ; - skos:exactMatch HGNC_symbol:GLUD1 ; + skos:exactMatch UMLS:C1415113, + HGNC:4335, + HGNC_symbol:GLUD1 ; biolink:category biolink:Gene . OMIM:138170 a owl:Class ; @@ -380558,9 +396912,6 @@ OMIM:138170 a owl:Class ; PMID:3170580, PMID:8240230, PMID:9253355 ; - oboInOwl:hasDbXref UMLS:C1420173, - UMLS:C1420174, - UMLS:C1841918 ; oboInOwl:hasExactSynonym "SLC2A3", "glucose transporter 3", "glucose transporter 3 pseudogene 1", @@ -380569,7 +396920,11 @@ OMIM:138170 a owl:Class ; "solute carrier family 2, member 3 pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6515 ; - skos:exactMatch HGNC_symbol:SLC2A3 ; + skos:exactMatch UMLS:C1420173, + UMLS:C1420174, + UMLS:C1841918, + HGNC:11007, + HGNC_symbol:SLC2A3 ; biolink:category biolink:Gene . OMIM:138200 a owl:Class ; @@ -380591,7 +396946,6 @@ OMIM:138200 a owl:Class ; PMID:7367867, PMID:849243, PMID:9119391 ; - oboInOwl:hasDbXref UMLS:C1415274 ; oboInOwl:hasExactSynonym "GPT", "alanine aminotransferase 1", "alanine aminotransferase, soluble", @@ -380600,7 +396954,9 @@ OMIM:138200 a owl:Class ; "glutamate pyruvate transaminase, soluble red cell" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2875 ; - skos:exactMatch HGNC_symbol:GPT ; + skos:exactMatch UMLS:C1415274, + HGNC:4552, + HGNC_symbol:GPT ; biolink:category biolink:Gene . OMIM:138210 a owl:Class ; @@ -380613,15 +396969,16 @@ OMIM:138210 a owl:Class ; PMID:31471722 ; RO:0002525 CHR:9606chr16q11.2 ; RO:0003303 OMIM:616281 ; - oboInOwl:hasDbXref UMLS:C1512213, - UMLS:C4225388 ; oboInOwl:hasExactSynonym "GPT2", "alanine aminotransferase 2", "glutamate pyruvate transaminase 2", "glutamate pyruvate transaminase, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84706 ; - skos:exactMatch HGNC_symbol:GPT2 ; + skos:exactMatch UMLS:C1512213, + UMLS:C4225388, + HGNC:18062, + HGNC_symbol:GPT2 ; biolink:category biolink:Gene . OMIM:138370 a owl:Class ; @@ -380634,14 +396991,15 @@ OMIM:138385 a owl:Class ; PMID:8317488, PMID:8473333, PMID:9452477 ; - oboInOwl:hasDbXref UMLS:C1415338 ; oboInOwl:hasExactSynonym "GSTM5", "glutathione s-transferase m5", "glutathione s-transferase, class mu, 5", "glutathione s-transferase, mu-5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2949 ; - skos:exactMatch HGNC_symbol:GSTM5 ; + skos:exactMatch UMLS:C1415338, + HGNC:4637, + HGNC_symbol:GSTM5 ; biolink:category biolink:Gene . OMIM:138480 a owl:Class ; @@ -380654,8 +397012,6 @@ OMIM:138480 a owl:Class ; PMID:7197058 ; RO:0002525 CHR:9606chr8q22.3 ; RO:0003303 OMIM:616839 ; - oboInOwl:hasDbXref UMLS:C1822742, - UMLS:C4225187 ; oboInOwl:hasExactSynonym "SLC25A32", "glycine B complementing", "glycine auxotroph b, human complement of hamster", @@ -380663,7 +397019,10 @@ OMIM:138480 a owl:Class ; "solute carrier family 25 (mitochondrial carrier, folate), member 32" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:81034 ; - skos:exactMatch HGNC_symbol:SLC25A32 ; + skos:exactMatch UMLS:C1822742, + UMLS:C4225187, + HGNC:29683, + HGNC_symbol:SLC25A32 ; biolink:category biolink:Gene . OMIM:138500 a owl:Class ; @@ -380675,11 +397034,11 @@ OMIM:138500 a owl:Class ; PMID:5641621, PMID:6072641, PMID:668712 ; - oboInOwl:hasDbXref UMLS:C0543541 ; oboInOwl:hasExactSynonym "glycinuria with or without oxalate nephrolithiasis", "glycinuria with or without oxalate urolithiasis", "hyperglycinuria", "iminoglycinuria iia 2" ; + skos:exactMatch UMLS:C0543541 ; biolink:category biolink:Disease . OMIM:138800 a owl:Class ; @@ -380694,7 +397053,6 @@ OMIM:138800 a owl:Class ; PMID:6261577, PMID:9295070, PMID:9345104 ; - oboInOwl:hasDbXref UMLS:C0302859 ; oboInOwl:hasExactSynonym "MNG1", "euthyroid goiter", "goiter, multinodular 1, with or without sertoli-leydig cell tumors", @@ -380702,6 +397060,7 @@ OMIM:138800 a owl:Class ; "multinodular goiter, adolescent", "simple goiter" ; rdfs:subClassOf OMIMPS:138800 ; + skos:exactMatch UMLS:C0302859 ; biolink:category biolink:Disease . OMIM:138850 a owl:Class ; @@ -380745,7 +397104,6 @@ OMIM:138850 a owl:Class ; PMID:9425890 ; RO:0002525 CHR:9606chr4q13.2 ; RO:0003303 OMIM:146110 ; - oboInOwl:hasDbXref UMLS:C1415171 ; oboInOwl:hasExactSynonym "GNRHR", "gnrhr1", "gonadotropin-releasing hormone receptor", @@ -380753,7 +397111,9 @@ OMIM:138850 a owl:Class ; "luteinizing hormone-releasing hormone receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2798 ; - skos:exactMatch HGNC_symbol:GNRHR ; + skos:exactMatch UMLS:C1415171, + HGNC:4421, + HGNC_symbol:GNRHR ; biolink:category biolink:Gene . OMIM:138890 a owl:Class ; @@ -380769,12 +397129,13 @@ OMIM:138890 a owl:Class ; PMID:9475592 ; RO:0002525 CHR:9606chr14q32.13 ; RO:0003303 OMIM:602471 ; - oboInOwl:hasDbXref UMLS:C1415316 ; oboInOwl:hasExactSynonym "GSC", "goosecoid homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:145258 ; - skos:exactMatch HGNC_symbol:GSC ; + skos:exactMatch UMLS:C1415316, + HGNC:4612, + HGNC_symbol:GSC ; biolink:category biolink:Gene . OMIM:139090 a owl:Class ; @@ -380800,12 +397161,12 @@ OMIM:139090 a owl:Class ; PMID:6484975, PMID:7504696, PMID:8192152 ; - oboInOwl:hasDbXref UMLS:C0272302 ; oboInOwl:hasExactSynonym "GPS", "bleeding disorder, platelet-type, 4", "gray platelet syndrome", "platelet alpha-granule deficiency" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C0272302 ; biolink:category biolink:Disease . OMIM:139139 a owl:Class ; @@ -380828,7 +397189,6 @@ OMIM:139139 a owl:Class ; PMID:7705655, PMID:7758108, PMID:9343423 ; - oboInOwl:hasDbXref UMLS:C1367453 ; oboInOwl:hasExactSynonym "NR4A1", "growth factor inducible nuclear protein n10", "growth factor response protein 1", @@ -380840,7 +397200,9 @@ OMIM:139139 a owl:Class ; "nur77, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3164 ; - skos:exactMatch HGNC_symbol:NR4A1 ; + skos:exactMatch UMLS:C1367453, + HGNC:7980, + HGNC_symbol:NR4A1 ; biolink:category biolink:Gene . OMIM:139210 a owl:Class ; @@ -380867,12 +397229,12 @@ OMIM:139210 a owl:Class ; PMID:8261650, PMID:8585577, PMID:9843046 ; - oboInOwl:hasDbXref UMLS:C0796081, - ORPHA:2588 ; oboInOwl:hasExactSynonym "MYHRS", "growth-mental deficiency syndrome of myhre", "laryngotracheal stenosis, arthropathy, prognathism, and short stature", "myhre syndrome" ; + skos:exactMatch UMLS:C0796081, + ORPHA:2588 ; biolink:category biolink:Disease . OMIM:139260 a owl:Class ; @@ -380881,24 +397243,26 @@ OMIM:139260 a owl:Class ; PMID:10595517, PMID:14730308, PMID:4812947 ; - oboInOwl:hasDbXref UMLS:C1415029 ; oboInOwl:hasExactSynonym "GDA", "cytoplasmic psd95 interactor", "guanase", "guanine deaminase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9615 ; - skos:exactMatch HGNC_symbol:GDA ; + skos:exactMatch UMLS:C1415029, + HGNC:4212, + HGNC_symbol:GDA ; biolink:category biolink:Gene . OMIM:139280 a owl:Class ; rdfs:label "guanylate kinase 2" ; IAO:0000142 PMID:4377261, PMID:5036631 ; - oboInOwl:hasDbXref UMLS:C3887945 ; oboInOwl:hasExactSynonym "GUK2", "guanylate kinase 2" ; - skos:exactMatch HGNC_symbol:GUK2 . + skos:exactMatch UMLS:C3887945, + HGNC:4694, + HGNC_symbol:GUK2 . OMIM:139300 a owl:Class ; rdfs:label "aromatase excess syndrome" ; @@ -380912,12 +397276,12 @@ OMIM:139300 a owl:Class ; PMID:3924954, PMID:874104, PMID:9543166 ; - oboInOwl:hasDbXref UMLS:C1970109 ; oboInOwl:hasExactSynonym "AEXS", "aromatase activity, increased", "aromatase excess syndrome", "gynecomastia, familial, due to increased aromatase activity", "gynecomastia, hereditary" ; + skos:exactMatch UMLS:C1970109 ; biolink:category biolink:Disease . OMIM:139380 a owl:Class ; @@ -380935,29 +397299,31 @@ OMIM:139380 a owl:Class ; PMID:9205110 ; RO:0002525 CHR:9606chr1p36.33 ; RO:0003303 OMIM:614286 ; - oboInOwl:hasDbXref UMLS:C1333687, - UMLS:C2751104, - UMLS:C4016619, - UMLS:C4310774, - UMLS:C4310990 ; oboInOwl:hasExactSynonym "GNB1", "guanine nucleotide-binding protein, beta-1", "transducin, beta polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2782 ; - skos:exactMatch HGNC_symbol:GNB1 ; + skos:exactMatch UMLS:C1333687, + UMLS:C2751104, + UMLS:C4016619, + UMLS:C4310774, + UMLS:C4310990, + HGNC:4396, + HGNC_symbol:GNB1 ; biolink:category biolink:Gene . OMIM:139391 a owl:Class ; rdfs:label "GNGT2" ; IAO:0000142 PMID:7721746, PMID:9286705 ; - oboInOwl:hasDbXref UMLS:C1415162 ; oboInOwl:hasExactSynonym "GNGT2", "guanine nucleotide-binding protein, gamma-transducing activity polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2793 ; - skos:exactMatch HGNC_symbol:GNGT2 ; + skos:exactMatch UMLS:C1415162, + HGNC:4412, + HGNC_symbol:GNGT2 ; biolink:category biolink:Gene . OMIM:139450 a owl:Class ; @@ -380968,11 +397334,11 @@ OMIM:139450 a owl:Class ; PMID:19896111, PMID:4713565 ; RO:0002525 CHR:9606chr1q21.3 ; - oboInOwl:hasDbXref UMLS:C2697452 ; oboInOwl:hasExactSynonym "HRM2", "curly hair", "hair curvature, variation 1n", "hair morphology 2" ; + skos:exactMatch UMLS:C2697452 ; biolink:category biolink:Disease . OMIM:139900 a owl:Class ; @@ -381005,10 +397371,10 @@ OMIM:139900 a owl:Class ; PMID:843315, PMID:9246435 ; RO:0002525 CHR:9606chr2p12-q22 ; - oboInOwl:hasDbXref UMLS:C0023114 ; oboInOwl:hasExactSynonym "HSR", "hand skill, relative", "handedness" ; + skos:exactMatch UMLS:C0023114 ; biolink:category biolink:Disease . OMIM:140000 a owl:Class ; @@ -381027,11 +397393,11 @@ OMIM:140000 a owl:Class ; PMID:8375102, PMID:9020844, PMID:987572 ; - oboInOwl:hasDbXref UMLS:C1841679, - ORPHA:2438 ; oboInOwl:hasExactSynonym "HFG", "hand-foot-genital syndrome", "hand-foot-uterus syndrome" ; + skos:exactMatch UMLS:C1841679, + ORPHA:2438 ; biolink:category biolink:Disease . OMIM:140300 a owl:Class ; @@ -381064,13 +397430,13 @@ OMIM:140300 a owl:Class ; PMID:9020075, PMID:9281381 ; RO:0002525 CHR:9606chr8q23-q24 ; - oboInOwl:hasDbXref UMLS:C0677607, - UMLS:C3887534 ; oboInOwl:hasExactSynonym "hashimoto struma", "hashimoto thyroiditis", "ht", "hypothyroidism, autoimmune", "thyroid autoantibodies" ; + skos:exactMatch UMLS:C0677607, + UMLS:C3887534 ; biolink:category biolink:Disease . OMIM:140400 a owl:Class ; @@ -381080,11 +397446,11 @@ OMIM:140400 a owl:Class ; PMID:7882468, PMID:897853 ; RO:0002525 CHR:9606chr1q32 ; - oboInOwl:hasDbXref UMLS:C1841658 ; oboInOwl:hasExactSynonym "PFHB2", "pfhbii", "progressive familial heart block, iia 2" ; rdfs:subClassOf OMIMPS:113900 ; + skos:exactMatch UMLS:C1841658 ; biolink:category biolink:Disease . OMIM:140550 a owl:Class ; @@ -381121,7 +397487,6 @@ OMIM:140550 a owl:Class ; PMID:7044890, PMID:7274214, PMID:8811838 ; - oboInOwl:hasDbXref UMLS:C1415755 ; oboInOwl:hasExactSynonym "HSPA1A", "heat-shock 70-kd protein 1", "heat-shock 70-kd protein 1a", @@ -381132,7 +397497,9 @@ OMIM:140550 a owl:Class ; "hsp72" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3303 ; - skos:exactMatch HGNC_symbol:HSPA1A ; + skos:exactMatch UMLS:C1415755, + HGNC:5232, + HGNC_symbol:HSPA1A ; biolink:category biolink:Gene . OMIM:140600 a owl:Class ; @@ -381142,9 +397509,6 @@ OMIM:140600 a owl:Class ; PMID:12736871, PMID:14362352, PMID:8923371 ; - oboInOwl:hasDbXref UMLS:C0018862, - UMLS:C0263746, - UMLS:C3887526 ; oboInOwl:hasExactSynonym "OS2", "dipoa", "hand osteoarthritis", @@ -381152,6 +397516,9 @@ OMIM:140600 a owl:Class ; "oadip", "osteoarthritis of distal interphalangeal joints", "osteoarthritis susceptibility 2" ; + skos:exactMatch UMLS:C0018862, + UMLS:C0263746, + UMLS:C3887526 ; biolink:category biolink:Disease . OMIM:141400 a owl:Class ; @@ -381161,11 +397528,11 @@ OMIM:141400 a owl:Class ; PMID:7124792, PMID:7341641, PMID:9098494 ; - oboInOwl:hasDbXref UMLS:C0220681 ; oboInOwl:hasExactSynonym "goldenhar syndrome with ipsilateral radial defect", "hemifacial microsomia with radial defects", "oavs with radial defect", "oculoauriculovertebral spectrum with radial defect" ; + skos:exactMatch UMLS:C0220681 ; biolink:category biolink:Disease . OMIM:141900 a owl:Class ; @@ -382256,12 +398623,13 @@ OMIM:141900 a owl:Class ; PMID:998617 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1415481 ; oboInOwl:hasExactSynonym "HBB", "hemoglobin--beta locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3043 ; - skos:exactMatch HGNC_symbol:HBB ; + skos:exactMatch UMLS:C1415481, + HGNC:4827, + HGNC_symbol:HBB ; biolink:category biolink:Gene . OMIM:142200 a owl:Class ; @@ -382355,13 +398723,14 @@ OMIM:142200 a owl:Class ; PMID:9703422 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:141749 ; - oboInOwl:hasDbXref UMLS:C1415485 ; oboInOwl:hasExactSynonym "HBG1", "hemoglobin, gamma a", "hemoglobin--gamma locus, 136 alanine" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3047 ; - skos:exactMatch HGNC_symbol:HBG1 ; + skos:exactMatch UMLS:C1415485, + HGNC:4831, + HGNC_symbol:HBG1 ; biolink:category biolink:Gene . OMIM:142310 a owl:Class ; @@ -382384,7 +398753,6 @@ OMIM:142310 a owl:Class ; PMID:6272319, PMID:6308667, PMID:6592610 ; - oboInOwl:hasDbXref UMLS:C1415489 ; oboInOwl:hasExactSynonym "5-prime zeta locus", "HBZ", "hemoglobin zeta", @@ -382392,7 +398760,9 @@ OMIM:142310 a owl:Class ; "hemoglobin--zeta locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3050 ; - skos:exactMatch HGNC_symbol:HBZ ; + skos:exactMatch UMLS:C1415489, + HGNC:4835, + HGNC_symbol:HBZ ; biolink:category biolink:Gene . OMIM:142335 a owl:Class ; @@ -382402,9 +398772,9 @@ OMIM:142335 a owl:Class ; PMID:18667698, PMID:21057501 ; RO:0002525 CHR:9606chr2p16.1 ; - oboInOwl:hasDbXref UMLS:C1969758 ; oboInOwl:hasExactSynonym "HBFQTL5", "fetal hemoglobin quantitative trait locus 5" ; + skos:exactMatch UMLS:C1969758 ; biolink:category biolink:Disease . OMIM:142340 a owl:Class ; @@ -382451,9 +398821,6 @@ OMIM:142340 a owl:Class ; PMID:9222974, PMID:9788565 ; RO:0002525 CHR:9606chr15q26.1 ; - oboInOwl:hasDbXref UMLS:C0235833, - UMLS:C1840643, - UMLS:C1840644 ; oboInOwl:hasExactSynonym "diaphragm, complete agenesis of", "diaphragm, unilateral agenesis of", "diaphragmatic defect, congenital", @@ -382462,6 +398829,9 @@ OMIM:142340 a owl:Class ; "dih", "hemidiaphragm, agenesis of", "hernia, congenital diaphragmatic" ; + skos:exactMatch UMLS:C0235833, + UMLS:C1840643, + UMLS:C1840644 ; biolink:category biolink:Disease . OMIM:142360 a owl:Class ; @@ -382478,14 +398848,15 @@ OMIM:142360 a owl:Class ; PMID:8902986 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:612356 ; - oboInOwl:hasDbXref UMLS:C1415492 ; oboInOwl:hasExactSynonym "HCF2", "heparin cofactor 2", "leuserpin 2", "serpind1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3053 ; - skos:exactMatch HGNC_symbol:SERPIND1 ; + skos:exactMatch UMLS:C1415492, + HGNC:4838, + HGNC_symbol:SERPIND1 ; biolink:category biolink:Gene . OMIM:142445 a owl:Class ; @@ -382535,7 +398906,6 @@ OMIM:142445 a owl:Class ; PMID:9707607 ; RO:0002525 CHR:9606chr8p12 ; RO:0003303 OMIM:603013 ; - oboInOwl:hasDbXref UMLS:C1367656 ; oboInOwl:hasExactSynonym "NRG1", "acetylcholine receptor-inducing activity, chick, homolog of", "glial growth factor 2", @@ -382545,7 +398915,9 @@ OMIM:142445 a owl:Class ; "sensory and motor neuron-derived factor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3084 ; - skos:exactMatch HGNC_symbol:NRG1 ; + skos:exactMatch UMLS:C1367656, + HGNC:7997, + HGNC_symbol:NRG1 ; biolink:category biolink:Gene . OMIM:142470 a owl:Class ; @@ -382561,9 +398933,9 @@ OMIM:142470 a owl:Class ; PMID:8528252, PMID:9585587 ; RO:0002525 CHR:9606chr6q22.3-q23.1 ; - oboInOwl:hasDbXref UMLS:C1840598 ; oboInOwl:hasExactSynonym "HBFQTL2", "fetal hemoglobin quantitative trait locus 2" ; + skos:exactMatch UMLS:C1840598 ; biolink:category biolink:Disease . OMIM:142560 a owl:Class ; @@ -382576,7 +398948,6 @@ OMIM:142560 a owl:Class ; PMID:7601445, PMID:7849397, PMID:9242493 ; - oboInOwl:hasDbXref UMLS:C1422269 ; oboInOwl:hasExactSynonym "DDX39B", "d6s81e", "dead-box polypeptide 39b", @@ -382585,7 +398956,9 @@ OMIM:142560 a owl:Class ; "u2af65-associated protein, 56-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7919 ; - skos:exactMatch HGNC_symbol:DDX39B ; + skos:exactMatch UMLS:C1422269, + HGNC:13917, + HGNC_symbol:DDX39B ; biolink:category biolink:Gene . OMIM:142600 a owl:Class ; @@ -382621,16 +398994,17 @@ OMIM:142600 a owl:Class ; PMID:9531504 ; RO:0002525 CHR:9606chr10q22.1 ; RO:0003303 OMIM:617460 ; - oboInOwl:hasDbXref UMLS:C1415554, - UMLS:C1854449, - UMLS:C3150343, - UMLS:C4479526, - UMLS:C5231404 ; oboInOwl:hasExactSynonym "HK1", "hexokinase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3098 ; - skos:exactMatch HGNC_symbol:HK1 ; + skos:exactMatch UMLS:C1415554, + UMLS:C1854449, + UMLS:C3150343, + UMLS:C4479526, + UMLS:C5231404, + HGNC:4922, + HGNC_symbol:HK1 ; biolink:category biolink:Gene . OMIM:142623 a owl:Class ; @@ -382691,8 +399065,6 @@ OMIM:142623 a owl:Class ; PMID:9259577, PMID:9359036, PMID:9824583 ; - oboInOwl:hasDbXref UMLS:C3888125, - UMLS:C3888239 ; oboInOwl:hasExactSynonym "HSCR1", "aganglionic megacolon", "hirschsprung disease", @@ -382700,6 +399072,8 @@ OMIM:142623 a owl:Class ; "hirschsprung disease, susceptibility to, 1", "megacolon, aganglionic" ; rdfs:subClassOf OMIMPS:142623 ; + skos:exactMatch UMLS:C3888125, + UMLS:C3888239 ; biolink:category biolink:Disease . OMIM:142680 a owl:Class ; @@ -382719,14 +399093,14 @@ OMIM:142680 a owl:Class ; PMID:8190036, PMID:9529351, PMID:9585614 ; - oboInOwl:hasDbXref UMLS:C1275126, - ORPHA:32960 ; oboInOwl:hasExactSynonym "FPF", "familial hibernian fever", "hibernian fever, familial", "periodic fever, familial, autosomal dominant", "tnf receptor-associated periodic syndrome", "tumor necrosis factor receptor-associated periodic syndrome" ; + skos:exactMatch UMLS:C1275126, + ORPHA:32960 ; biolink:category biolink:Disease . OMIM:142690 a owl:Class ; @@ -382741,12 +399115,12 @@ OMIM:142690 a owl:Class ; PMID:4015966, PMID:4864515, PMID:6492093 ; - oboInOwl:hasDbXref UMLS:C4551962 ; oboInOwl:hasExactSynonym "ACNINV1", "acne inversa, familial", "acne inversa, familial, 1", "hidradenitis suppurativa, familial" ; rdfs:subClassOf OMIMPS:142690 ; + skos:exactMatch UMLS:C4551962 ; biolink:category biolink:Disease . OMIM:142695 a owl:Class ; @@ -382755,13 +399129,14 @@ OMIM:142695 a owl:Class ; PMID:8168838, PMID:8390966, PMID:8681952 ; - oboInOwl:hasDbXref UMLS:C1415507 ; oboInOwl:hasExactSynonym "HDLBP", "high density lipoprotein-binding protein", "vigilin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3069 ; - skos:exactMatch HGNC_symbol:HDLBP ; + skos:exactMatch UMLS:C1415507, + HGNC:4857, + HGNC_symbol:HDLBP ; biolink:category biolink:Gene . OMIM:142700 a owl:Class ; @@ -382779,14 +399154,14 @@ OMIM:142700 a owl:Class ; PMID:5889015, PMID:6429438 ; RO:0002525 CHR:9606chr13q22 ; - oboInOwl:hasDbXref UMLS:C1306065, - UMLS:C4551649 ; oboInOwl:hasExactSynonym "DDH1", "acetabular dysplasia", "developmental dysplasia of the hip 1", "hip dysplasia, congenital", "hip dysplasia, developmental" ; rdfs:subClassOf OMIMPS:142700 ; + skos:exactMatch UMLS:C1306065, + UMLS:C4551649 ; biolink:category biolink:Disease . OMIM:142711 a owl:Class ; @@ -382796,7 +399171,6 @@ OMIM:142711 a owl:Class ; PMID:8325638, PMID:9031620, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1415389 ; oboInOwl:hasExactSynonym "HIST1H1B", "h1 histone family, member 5, formerly", "h1.5", @@ -382806,7 +399180,9 @@ OMIM:142711 a owl:Class ; "histone gene cluster 1, h1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3009 ; - skos:exactMatch HGNC_symbol:H1-5 ; + skos:exactMatch UMLS:C1415389, + HGNC:4719, + HGNC_symbol:H1-5 ; biolink:category biolink:Gene . OMIM:142720 a owl:Class ; @@ -382816,7 +399192,6 @@ OMIM:142720 a owl:Class ; PMID:6326092, PMID:8179821, PMID:9439656 ; - oboInOwl:hasDbXref UMLS:C1825479 ; oboInOwl:hasExactSynonym "HIST2H2AA3", "h2a histone family, member o", "h2a.2", @@ -382827,7 +399202,9 @@ OMIM:142720 a owl:Class ; "histone gene cluster 2, h2aa3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8337 ; - skos:exactMatch HGNC_symbol:H2AC18 ; + skos:exactMatch UMLS:C1825479, + HGNC:4736, + HGNC_symbol:H2AC18 ; biolink:category biolink:Gene . OMIM:142750 a owl:Class ; @@ -382835,7 +399212,6 @@ OMIM:142750 a owl:Class ; IAO:0000142 PMID:12408966, PMID:3035717, PMID:6314274 ; - oboInOwl:hasDbXref UMLS:C1825484 ; oboInOwl:hasExactSynonym "HIST2H4A", "h4 histone family, member n", "h4 histone, family 2", @@ -382845,7 +399221,9 @@ OMIM:142750 a owl:Class ; "histone gene cluster 2, h4a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8370 ; - skos:exactMatch HGNC_symbol:H4C14 ; + skos:exactMatch UMLS:C1825484, + HGNC:4794, + HGNC_symbol:H4C14 ; biolink:category biolink:Gene . OMIM:142800 a owl:Class ; @@ -382961,9 +399339,6 @@ OMIM:142800 a owl:Class ; PMID:885534 ; RO:0002525 CHR:9606chr6p22.1 ; RO:0003303 OMIM:608579 ; - oboInOwl:hasDbXref UMLS:C1333899, - UMLS:C1415588, - UMLS:C1415589 ; oboInOwl:hasExactSynonym "HLA-A", "hla-a histocompatibility iia", "major histocompatibility complex, class i, a", @@ -382971,7 +399346,11 @@ OMIM:142800 a owl:Class ; "major histocompatibility complex, class i, j pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3105 ; - skos:exactMatch HGNC_symbol:HLA-A ; + skos:exactMatch UMLS:C1333899, + UMLS:C1415588, + UMLS:C1415589, + HGNC:4931, + HGNC_symbol:HLA-A ; biolink:category biolink:Gene . OMIM:142880 a owl:Class ; @@ -382999,14 +399378,15 @@ OMIM:142880 a owl:Class ; PMID:6967946, PMID:6974826, PMID:6974827 ; - oboInOwl:hasDbXref UMLS:C1415567 ; oboInOwl:hasExactSynonym "HLA-DPA1", "hla-dp", "hla-sb histocompatibility iia", "major histocompatibility complex, class ii, dp alpha-1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3113 ; - skos:exactMatch HGNC_symbol:HLA-DPA1 ; + skos:exactMatch UMLS:C1415567, + HGNC:4938, + HGNC_symbol:HLA-DPA1 ; biolink:category biolink:Gene . OMIM:142900 a owl:Class ; @@ -383048,12 +399428,12 @@ OMIM:142900 a owl:Class ; PMID:8985738, PMID:8988164, PMID:8988165 ; - oboInOwl:hasDbXref UMLS:C0265264 ; oboInOwl:hasExactSynonym "HOS", "atriodigital dysplasia", "heart-hand syndrome", "holt-oram syndrome", "hos1" ; + skos:exactMatch UMLS:C0265264 ; biolink:category biolink:Disease . OMIM:142946 a owl:Class ; @@ -383067,10 +399447,10 @@ OMIM:142946 a owl:Class ; PMID:7485158, PMID:9605287, PMID:964998 ; - oboInOwl:hasDbXref UMLS:C1840528 ; oboInOwl:hasExactSynonym "HPE4", "holoprosencephaly 4" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C1840528 ; biolink:category biolink:Disease . OMIM:142981 a owl:Class ; @@ -383079,7 +399459,6 @@ OMIM:142981 a owl:Class ; PMID:15776434, PMID:2568311, PMID:2879245 ; - oboInOwl:hasDbXref UMLS:C1415689 ; oboInOwl:hasExactSynonym "HOXD4", "homeobox 10", "homeobox 4b", @@ -383087,7 +399466,9 @@ OMIM:142981 a owl:Class ; "hox-4.2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3233 ; - skos:exactMatch HGNC_symbol:HOXD4 ; + skos:exactMatch UMLS:C1415689, + HGNC:5138, + HGNC_symbol:HOXD4 ; biolink:category biolink:Gene . OMIM:143030 a owl:Class ; @@ -383106,14 +399487,15 @@ OMIM:143030 a owl:Class ; PMID:6198179, PMID:6206575, PMID:6792721 ; - oboInOwl:hasDbXref UMLS:C1413246 ; oboInOwl:hasExactSynonym "CD9", "antigen defined by monoclonal antibody 602-29", "cd9 antigen", "leukocyte antigen mic3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:928 ; - skos:exactMatch HGNC_symbol:CD9 ; + skos:exactMatch UMLS:C1413246, + HGNC:1709, + HGNC_symbol:CD9 ; biolink:category biolink:Gene . OMIM:143055 a owl:Class ; @@ -383128,7 +399510,6 @@ OMIM:143055 a owl:Class ; PMID:2683071, PMID:9491887, PMID:9499409 ; - oboInOwl:hasDbXref UMLS:C1413185 ; oboInOwl:hasExactSynonym "CCNT1", "cdk9-associated c-type cyclin", "cyclin c-related protein", @@ -383136,7 +399517,9 @@ OMIM:143055 a owl:Class ; "cyclin t1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:904 ; - skos:exactMatch HGNC_symbol:CCNT1 ; + skos:exactMatch UMLS:C1413185, + HGNC:1599, + HGNC_symbol:CCNT1 ; biolink:category biolink:Gene . OMIM:143200 a owl:Class ; @@ -383159,13 +399542,13 @@ OMIM:143200 a owl:Class ; PMID:8152765, PMID:8317498, PMID:9098284 ; - oboInOwl:hasDbXref UMLS:C1840452 ; oboInOwl:hasExactSynonym "WGVRP", "erosive vitreoretinopathy", "hyaloideoretinal degeneration of wagner", "wagner syndrome 1", "wagner vitreoretinal degeneration", "wagner vitreoretinopathy" ; + skos:exactMatch UMLS:C1840452 ; biolink:category biolink:Disease . OMIM:143400 a owl:Class ; @@ -383187,8 +399570,6 @@ OMIM:143400 a owl:Class ; PMID:9128928, PMID:9147880, PMID:9598309 ; - oboInOwl:hasDbXref UMLS:C0521619, - UMLS:C1840451 ; oboInOwl:hasExactSynonym "CAKUT2", "congenital anomalies of kidney and urinary tract 2", "hydronephrosis due to pujo", @@ -383196,6 +399577,8 @@ OMIM:143400 a owl:Class ; "pelviureteric junction obstruction", "ureteropelvic junction obstruction" ; rdfs:subClassOf OMIMPS:610805 ; + skos:exactMatch UMLS:C0521619, + UMLS:C1840451 ; biolink:category biolink:Disease . OMIM:143450 a owl:Class ; @@ -383214,7 +399597,6 @@ OMIM:143450 a owl:Class ; PMID:9259266 ; RO:0002525 CHR:9606chr2p23.3 ; RO:0003303 OMIM:609015 ; - oboInOwl:hasDbXref UMLS:C1415462 ; oboInOwl:hasExactSynonym "HADHB", "echb", "hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase, beta subunit", @@ -383222,16 +399604,19 @@ OMIM:143450 a owl:Class ; "trifunctional protein, beta subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3032 ; - skos:exactMatch HGNC_symbol:HADHB ; + skos:exactMatch UMLS:C1415462, + HGNC:4803, + HGNC_symbol:HADHB ; biolink:category biolink:Gene . OMIM:143460 a owl:Class ; rdfs:label "5-hydroxytryptamine oxygenase regulator" ; IAO:0000142 PMID:93675 ; - oboInOwl:hasDbXref UMLS:C3887951 ; oboInOwl:hasExactSynonym "5-hydroxytryptamine oxygenase regulator", "HTOR" ; - skos:exactMatch HGNC_symbol:HTOR . + skos:exactMatch UMLS:C3887951, + HGNC:5285, + HGNC_symbol:HTOR . OMIM:143500 a owl:Class ; rdfs:label "gilbert syndrome" ; @@ -383258,12 +399643,12 @@ OMIM:143500 a owl:Class ; PMID:7565971, PMID:7565981, PMID:8528206 ; - oboInOwl:hasDbXref UMLS:C0017551 ; oboInOwl:hasExactSynonym "gilbert syndrome", "hyperbilirubinemia 1", "hyperbilirubinemia, arias iia", "hyperbilirubinemia, gilbert iia" ; rdfs:subClassOf OMIMPS:237450 ; + skos:exactMatch UMLS:C0017551 ; biolink:category biolink:Disease . OMIM:143850 a owl:Class ; @@ -383272,11 +399657,11 @@ OMIM:143850 a owl:Class ; PMID:4117376, PMID:9792870 ; RO:0002525 CHR:9606chr18q ; - oboInOwl:hasDbXref UMLS:C1840438 ; oboInOwl:hasExactSynonym "hyperbradykininism", "ohds", "orthostatic hypotensive disorder", "orthostatic hypotensive disorder, streeten iia" ; + skos:exactMatch UMLS:C1840438 ; biolink:category biolink:Disease . OMIM:143860 a owl:Class ; @@ -383284,9 +399669,9 @@ OMIM:143860 a owl:Class ; IAO:0000142 PMID:21035102, PMID:21184099, PMID:26911677 ; - oboInOwl:hasDbXref UMLS:C1840437 ; oboInOwl:hasExactSynonym "HYCHL", "hyperchlorhidrosis, isolated" ; + skos:exactMatch UMLS:C1840437 ; biolink:category biolink:Disease . OMIM:143870 a owl:Class ; @@ -383301,10 +399686,10 @@ OMIM:143870 a owl:Class ; PMID:7321108, PMID:7389737, PMID:759893 ; - oboInOwl:hasDbXref UMLS:C0342639 ; oboInOwl:hasExactSynonym "HCA2", "hypercalciuria, absorptive, 2", "hypercalciuria, familial idiopathic" ; + skos:exactMatch UMLS:C0342639 ; biolink:category biolink:Disease . OMIM:143880 a owl:Class ; @@ -383317,11 +399702,11 @@ OMIM:143880 a owl:Class ; PMID:22047572, PMID:3490596, PMID:459990 ; - oboInOwl:hasDbXref UMLS:C4310232 ; oboInOwl:hasExactSynonym "HCINF1", "hypercalcemia, idiopathic, of infancy", "hypercalcemia, infantile, 1" ; rdfs:subClassOf OMIMPS:143880 ; + skos:exactMatch UMLS:C4310232 ; biolink:category biolink:Disease . OMIM:144110 a owl:Class ; @@ -383331,10 +399716,10 @@ OMIM:144110 a owl:Class ; PMID:16470694, PMID:9891696 ; RO:0002525 CHR:9606chr14q11.2-q13 ; - oboInOwl:hasDbXref UMLS:C1274743 ; oboInOwl:hasExactSynonym "HYPRPP", "hyperhidrosis palmaris et plantaris", "hyperhidrosis, primary palmar" ; + skos:exactMatch UMLS:C1274743 ; biolink:category biolink:Disease . OMIM:144150 a owl:Class ; @@ -383343,10 +399728,10 @@ OMIM:144150 a owl:Class ; PMID:4715122, PMID:5039109, PMID:5783081 ; - oboInOwl:hasDbXref UMLS:C0263420 ; oboInOwl:hasExactSynonym "HLP", "flegel disease", "hyperkeratosis lenticularis perstans" ; + skos:exactMatch UMLS:C0263420 ; biolink:category biolink:Disease . OMIM:144200 a owl:Class ; @@ -383382,8 +399767,6 @@ OMIM:144200 a owl:Class ; PMID:8043399, PMID:8651714, PMID:9856842 ; - oboInOwl:hasDbXref UMLS:C1721006, - UMLS:C1840427 ; oboInOwl:hasExactSynonym "EPPK", "hyperkeratosis, localized epidermolytic", "keratoderma, epidermolytic palmoplantar", @@ -383394,6 +399777,8 @@ OMIM:144200 a owl:Class ; "palmoplantar keratoderma, vorner iia", "ppke", "tylosis" ; + skos:exactMatch UMLS:C1721006, + UMLS:C1840427 ; biolink:category biolink:Disease . OMIM:144750 a owl:Class ; @@ -383412,11 +399797,11 @@ OMIM:144750 a owl:Class ; PMID:5329553, PMID:5635141, PMID:8030669 ; - oboInOwl:hasDbXref UMLS:C0432273, - ORPHA:2790 ; oboInOwl:hasExactSynonym "endosteal hyperostosis, autosomal dominant", "hyperostosis corticalis generalisata, benign form of worth, with torus palatinus", "osteosclerosis, autosomal dominant" ; + skos:exactMatch UMLS:C0432273, + ORPHA:2790 ; biolink:category biolink:Disease . OMIM:145001 a owl:Class ; @@ -383438,14 +399823,14 @@ OMIM:145001 a owl:Class ; PMID:8954016, PMID:9625369, PMID:9973288 ; - oboInOwl:hasDbXref UMLS:C1704981, - UMLS:C1840394 ; oboInOwl:hasExactSynonym "HRPT2", "hyperparathyroidism 2 with jaw tumors", "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas", "hyperparathyroidism-jaw tumor syndrome, hereditary", "parathyroid adenomatosis, familial cystic" ; rdfs:subClassOf OMIMPS:145000 ; + skos:exactMatch UMLS:C1704981, + UMLS:C1840394 ; biolink:category biolink:Disease . OMIM:145260 a owl:Class ; @@ -383471,28 +399856,28 @@ OMIM:145260 a owl:Class ; PMID:8859273, PMID:9171836 ; RO:0002525 CHR:9606chr1q31-q42 ; - oboInOwl:hasDbXref UMLS:C1840389 ; oboInOwl:hasExactSynonym "PHA2A", "gordon hyperkalemia-hypertension syndrome", "hyperpotassemia and hypertension, familial", "hypertensive hyperkalemia, familial", "pseudohypoaldosteronism, iia 2a" ; rdfs:subClassOf OMIMPS:145260 ; + skos:exactMatch UMLS:C1840389 ; biolink:category biolink:Disease . OMIM:145290 a owl:Class ; rdfs:label "hyperreflexia" ; IAO:0000142 PMID:6711609 ; - oboInOwl:hasDbXref UMLS:C0151889 ; oboInOwl:hasExactSynonym "HRX", - "hyperreflexia" . + "hyperreflexia" ; + skos:exactMatch UMLS:C0151889 . OMIM:145350 a owl:Class ; rdfs:label "hypotaurinemic retinal degeneration and cardiomyopathy" ; IAO:0000142 PMID:7003386 ; - oboInOwl:hasDbXref UMLS:C1840385 ; oboInOwl:hasExactSynonym "HTRDC", "hypotaurinemic retinal degeneration and cardiomyopathy" ; + skos:exactMatch UMLS:C1840385 ; biolink:category biolink:Disease . OMIM:145650 a owl:Class ; @@ -383506,12 +399891,12 @@ OMIM:145650 a owl:Class ; PMID:8381821, PMID:8384535, PMID:8496318 ; - oboInOwl:hasDbXref UMLS:C1840364, - ORPHA:165994, - ORPHA:566243 ; oboInOwl:hasExactSynonym "PRTH", "hyperthyroidism, familial, due to inappropriate thyrotropin secretion", "thyroid hormone resistance, selective pituitary" ; + skos:exactMatch UMLS:C1840364, + ORPHA:165994, + ORPHA:566243 ; biolink:category biolink:Disease . OMIM:145680 a owl:Class ; @@ -383522,12 +399907,12 @@ OMIM:145680 a owl:Class ; PMID:6287778, PMID:6801514, PMID:8784093 ; - oboInOwl:hasDbXref UMLS:C2750824 ; oboInOwl:hasExactSynonym "DTTRH", "dystransthyretinemic euthyroidal hyperthyroxinemia", "euthryroidal hyperthyroxinemia 2", "hyperthyroxinemia, dysprealbuminemic", "hyperthyroxinemia, dystransthyretinemic" ; + skos:exactMatch UMLS:C2750824 ; biolink:category biolink:Disease . OMIM:145701 a owl:Class ; @@ -383543,11 +399928,11 @@ OMIM:145701 a owl:Class ; PMID:8275569, PMID:9712536 ; RO:0002525 CHR:9606chr8q22 ; - oboInOwl:hasDbXref UMLS:C1840362 ; oboInOwl:hasExactSynonym "HTC1", "ambras syndrome", "hypertrichosis universalis congenita, ambras iia", "hypertrichosis, congenital generalized" ; + skos:exactMatch UMLS:C1840362 ; biolink:category biolink:Disease . OMIM:145750 a owl:Class ; @@ -383566,24 +399951,24 @@ OMIM:145750 a owl:Class ; PMID:6131168, PMID:6308458, PMID:7355961 ; - oboInOwl:hasDbXref UMLS:C0020480 ; oboInOwl:hasExactSynonym "HYTG1", "hypertriglyceridemia 1", "hypertriglyceridemia, familial" ; + skos:exactMatch UMLS:C0020480 ; biolink:category biolink:Disease . OMIM:145981 a owl:Class ; rdfs:label "hypocalciuric hypercalcemia, familial, iia 2" ; IAO:0000142 PMID:1517376, PMID:23802516 ; - oboInOwl:hasDbXref UMLS:C1840347, - ORPHA:101049, - ORPHA:405 ; oboInOwl:hasExactSynonym "HHC2", "familial benign hypercalcemia, iia 2", "hypercalcemia, familial benign, iia 2", "hypocalciuric hypercalcemia, familial, iia 2" ; rdfs:subClassOf OMIMPS:145980 ; + skos:exactMatch UMLS:C1840347, + ORPHA:101049, + ORPHA:405 ; biolink:category biolink:Disease . OMIM:146110 a owl:Class ; @@ -383607,12 +399992,12 @@ OMIM:146110 a owl:Class ; PMID:21247312, PMID:9371856, PMID:9425890 ; - oboInOwl:hasDbXref UMLS:C0342384 ; oboInOwl:hasExactSynonym "HH7", "hypogonadism, isolated hypogonadotropic", "hypogonadotropic hypogonadism 7 with or without anosmia", "idiopathic hypogonadotropic hypogonadism" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C0342384 ; biolink:category biolink:Disease . OMIM:146300 a owl:Class ; @@ -383641,14 +400026,14 @@ OMIM:146300 a owl:Class ; PMID:7182980, PMID:7235780, PMID:754388 ; - oboInOwl:hasDbXref UMLS:C0268413, - ORPHA:247676, - ORPHA:247685, - ORPHA:436 ; oboInOwl:hasExactSynonym "HPPA", "hypophosphatasia, adult", "hypophosphatasia, mild", "odontohypophosphatasia" ; + skos:exactMatch UMLS:C0268413, + ORPHA:247676, + ORPHA:247685, + ORPHA:436 ; biolink:category biolink:Disease . OMIM:146350 a owl:Class ; @@ -383657,9 +400042,9 @@ OMIM:146350 a owl:Class ; PMID:610422, PMID:7212758, PMID:9024275 ; - oboInOwl:hasDbXref UMLS:C1840321 ; oboInOwl:hasExactSynonym "HBD", "hypophosphatemic bone disease" ; + skos:exactMatch UMLS:C1840321 ; biolink:category biolink:Disease . OMIM:146390 a owl:Class ; @@ -383673,9 +400058,9 @@ OMIM:146390 a owl:Class ; PMID:825713, PMID:9037347 ; RO:0002525 CHR:9606chr18p ; - oboInOwl:hasDbXref UMLS:C0432442 ; oboInOwl:hasExactSynonym "18p- syndrome", "chromosome 18p deletion syndrome" ; + skos:exactMatch UMLS:C0432442 ; biolink:category biolink:Disease . OMIM:146500 a owl:Class ; @@ -383706,13 +400091,13 @@ OMIM:146500 a owl:Class ; PMID:8103165, PMID:8644992, PMID:9869555 ; - oboInOwl:hasDbXref UMLS:C3714927, - ORPHA:102 ; oboInOwl:hasExactSynonym "MSA1", "autonomic failure, pure", "hypotension, orthostatic", "msa1, susceptibility to", "multiple system atrophy 1, susceptibility to" ; + skos:exactMatch UMLS:C3714927, + ORPHA:102 ; biolink:category biolink:Disease . OMIM:146550 a owl:Class ; @@ -383732,13 +400117,13 @@ OMIM:146550 a owl:Class ; PMID:20814945, PMID:508598, PMID:5127973 ; - oboInOwl:hasDbXref UMLS:C2750815, - ORPHA:444 ; oboInOwl:hasExactSynonym "HYPT4", "hypotrichosis 4", "hypotrichosis, marie unna type, 1", "marie unna hereditary hypotrichosis 1" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C2750815, + ORPHA:444 ; biolink:category biolink:Disease . OMIM:146690 a owl:Class ; @@ -383757,8 +400142,6 @@ OMIM:146690 a owl:Class ; PMID:7905856 ; RO:0002525 CHR:9606chr7q32.1 ; RO:0003303 OMIM:180105 ; - oboInOwl:hasDbXref UMLS:C1416427, - UMLS:C1840285 ; oboInOwl:hasExactSynonym "IMPDH1", "imp dehydrogenase 1", "imp dehydrogenase-like 1", @@ -383766,7 +400149,10 @@ OMIM:146690 a owl:Class ; "inosine-5-prime-monophosphate dehydrogenase, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3614 ; - skos:exactMatch HGNC_symbol:IMPDH1 ; + skos:exactMatch UMLS:C1416427, + UMLS:C1840285, + HGNC:6052, + HGNC_symbol:IMPDH1 ; biolink:category biolink:Gene . OMIM:146740 a owl:Class ; @@ -383788,8 +400174,6 @@ OMIM:146740 a owl:Class ; PMID:9242542 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:615707 ; - oboInOwl:hasDbXref UMLS:C1414555, - UMLS:C3810342 ; oboInOwl:hasExactSynonym "FCGR3A", "cd16a", "fc fragment of igg receptor iiia", @@ -383798,7 +400182,10 @@ OMIM:146740 a owl:Class ; "immunoglobulin g fc receptor iii-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2214 ; - skos:exactMatch HGNC_symbol:FCGR3A ; + skos:exactMatch UMLS:C1414555, + UMLS:C3810342, + HGNC:3619, + HGNC_symbol:FCGR3A ; biolink:category biolink:Gene . OMIM:146750 a owl:Class ; @@ -383810,11 +400197,11 @@ OMIM:146750 a owl:Class ; PMID:3757302, PMID:4096524, PMID:6499258 ; - oboInOwl:hasDbXref UMLS:C0432304, - ORPHA:313 ; oboInOwl:hasExactSynonym "ADLI", "ichthyosis, lamellar, autosomal dominant", "lamellar ichthyosis, autosomal dominant" ; + skos:exactMatch UMLS:C0432304, + ORPHA:313 ; biolink:category biolink:Disease . OMIM:146770 a owl:Class ; @@ -383829,7 +400216,6 @@ OMIM:146770 a owl:Class ; PMID:9419212 ; RO:0002525 CHR:9606chr22q11.23 ; RO:0003303 OMIM:613500 ; - oboInOwl:hasDbXref UMLS:C1416293 ; oboInOwl:hasExactSynonym "IGLL1", "igl5, mouse, homolog of", "igll", @@ -383838,7 +400224,9 @@ OMIM:146770 a owl:Class ; "lambda-5, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3543 ; - skos:exactMatch HGNC_symbol:IGLL1 ; + skos:exactMatch UMLS:C1416293, + HGNC:5870, + HGNC_symbol:IGLL1 ; biolink:category biolink:Gene . OMIM:146800 a owl:Class ; @@ -383851,20 +400239,20 @@ OMIM:146800 a owl:Class ; PMID:7521372, PMID:7524919, PMID:8077693 ; - oboInOwl:hasDbXref UMLS:C0432306, - ORPHA:455 ; oboInOwl:hasExactSynonym "IBS", "ichthyosis bullosa of siemens", "ichthyosis exfoliativa", "ichthyosis, bullous iia" ; + skos:exactMatch UMLS:C0432306, + ORPHA:455 ; biolink:category biolink:Disease . OMIM:146820 a owl:Class ; rdfs:label "immune response to synthetic polypeptide--irgat" ; IAO:0000142 PMID:6427771 ; - oboInOwl:hasDbXref UMLS:C1840267 ; oboInOwl:hasExactSynonym "IGAT", - "immune response to synthetic polypeptide--irgat" . + "immune response to synthetic polypeptide--irgat" ; + skos:exactMatch UMLS:C1840267 . OMIM:146850 a owl:Class ; rdfs:label "immune suppression" ; @@ -383872,11 +400260,11 @@ OMIM:146850 a owl:Class ; PMID:6219293, PMID:6447747, PMID:68998 ; - oboInOwl:hasDbXref UMLS:C1840264 ; oboInOwl:hasExactSynonym "IS", "immune suppression", "iscw", - "streptococcal cell wall antigen, suppression of immune response to" . + "streptococcal cell wall antigen, suppression of immune response to" ; + skos:exactMatch UMLS:C1840264 . OMIM:146920 a owl:Class ; rdfs:label "ADAR" ; @@ -383905,7 +400293,6 @@ OMIM:146920 a owl:Class ; PMID:8586444 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:127400 ; - oboInOwl:hasDbXref UMLS:C1412215 ; oboInOwl:hasExactSynonym "ADAR", "adenosine deaminase, rna-specific", "adenosine deaminase, rna-specific, 1", @@ -383914,16 +400301,18 @@ OMIM:146920 a owl:Class ; "interferon-induced protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:103 ; - skos:exactMatch HGNC_symbol:ADAR ; + skos:exactMatch UMLS:C1412215, + HGNC:225, + HGNC_symbol:ADAR ; biolink:category biolink:Gene . OMIM:146990 a owl:Class ; rdfs:label "immunoglobulin heavy chain diversity region 2" ; IAO:0000142 PMID:7959766 ; - oboInOwl:hasDbXref UMLS:C3887955 ; oboInOwl:hasExactSynonym "IGHDY2", "igd2", - "immunoglobulin heavy chain diversity region 2" . + "immunoglobulin heavy chain diversity region 2" ; + skos:exactMatch UMLS:C3887955 . OMIM:147061 a owl:Class ; rdfs:label "immunoglobulin e concentration, serum" ; @@ -383938,9 +400327,9 @@ OMIM:147061 a owl:Class ; PMID:8808287, PMID:9328470 ; RO:0002525 CHR:9606chr5q31.1 ; - oboInOwl:hasDbXref UMLS:C1840252 ; oboInOwl:hasExactSynonym "IGES", "immunoglobulin e concentration, serum" ; + skos:exactMatch UMLS:C1840252 ; biolink:category biolink:Disease . OMIM:147080 a owl:Class ; @@ -383948,15 +400337,15 @@ OMIM:147080 a owl:Class ; IAO:0000142 PMID:3923830, PMID:6427771, PMID:6787587 ; - oboInOwl:hasDbXref UMLS:C3887956 ; oboInOwl:hasExactSynonym "IGLP1", - "immune response to synthetic polypeptide--irglphe 1" . + "immune response to synthetic polypeptide--irglphe 1" ; + skos:exactMatch UMLS:C3887956 . OMIM:147090 a owl:Class ; rdfs:label "immune response to synthetic polypeptide--irglphe 2" ; - oboInOwl:hasDbXref UMLS:C3887957 ; oboInOwl:hasExactSynonym "IGLP2", - "immune response to synthetic polypeptide--irglphe 2" . + "immune response to synthetic polypeptide--irglphe 2" ; + skos:exactMatch UMLS:C3887957 . OMIM:147220 a owl:Class ; rdfs:label "IGLC1" ; @@ -383976,14 +400365,15 @@ OMIM:147220 a owl:Class ; PMID:6802926, PMID:6817330, PMID:7655473 ; - oboInOwl:hasDbXref UMLS:C1416278 ; oboInOwl:hasExactSynonym "IGLC1", "iglc", "immunoglobulin lambda constant region 1", "immunoglobulin: lambda light chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3537 ; - skos:exactMatch HGNC_symbol:IGLC1 ; + skos:exactMatch UMLS:C1416278, + HGNC:5855, + HGNC_symbol:IGLC1 ; biolink:category biolink:Gene . OMIM:147250 a owl:Class ; @@ -384004,7 +400394,6 @@ OMIM:147250 a owl:Class ; PMID:7328621, PMID:925821, PMID:9431535 ; - oboInOwl:hasDbXref UMLS:C1840235 ; oboInOwl:hasExactSynonym "SMMCI", "fused incisors", "incisors, fused", @@ -384013,6 +400402,7 @@ OMIM:147250 a owl:Class ; "smmci syndrome", "solitary median maxillary central incisor", "solitary median maxillary central incisor syndrome" ; + skos:exactMatch UMLS:C1840235 ; biolink:category biolink:Disease . OMIM:147430 a owl:Class ; @@ -384022,12 +400412,12 @@ OMIM:147430 a owl:Class ; PMID:18983665, PMID:29253101, PMID:4136553 ; - oboInOwl:hasDbXref UMLS:C1840219, - UMLS:C4538468 ; oboInOwl:hasExactSynonym "MARSIS", "congenital analgesia, autosomal dominant", "insensitivity to pain, congenital, autosomal dominant", "marsili syndrome" ; + skos:exactMatch UMLS:C1840219, + UMLS:C4538468 ; biolink:category biolink:Disease . OMIM:147553 a owl:Class ; @@ -384035,15 +400425,16 @@ OMIM:147553 a owl:Class ; IAO:0000142 PMID:1385305, PMID:4057246, PMID:8151140 ; - oboInOwl:hasDbXref UMLS:C1334086, - UMLS:C1415923 ; oboInOwl:hasExactSynonym "IFNW1", "ifn-alpha-like", "interferon, omega-1", "interferon, omega-2, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3467 ; - skos:exactMatch HGNC_symbol:IFNW1 ; + skos:exactMatch UMLS:C1334086, + UMLS:C1415923, + HGNC:5448, + HGNC_symbol:IFNW1 ; biolink:category biolink:Gene . OMIM:147630 a owl:Class ; @@ -384051,10 +400442,10 @@ OMIM:147630 a owl:Class ; IAO:0000142 PMID:19011561, PMID:29339498, PMID:70643 ; - oboInOwl:hasDbXref UMLS:C1578917 ; oboInOwl:hasExactSynonym "INSDM", "insulinomatosis and diabetes mellitus", "islet cell adenomatosis" ; + skos:exactMatch UMLS:C1578917 ; biolink:category biolink:Disease . OMIM:147660 a owl:Class ; @@ -384101,8 +400492,6 @@ OMIM:147660 a owl:Class ; PMID:84714, PMID:8742371 ; RO:0002525 CHR:9606chr9p21.3 ; - oboInOwl:hasDbXref UMLS:C1415900, - UMLS:C1415911 ; oboInOwl:hasExactSynonym "IFNA1", "alpha-interferon", "ifn, leukocyte", @@ -384112,7 +400501,10 @@ OMIM:147660 a owl:Class ; "interferon, leukocytic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3439 ; - skos:exactMatch HGNC_symbol:IFNA1 ; + skos:exactMatch UMLS:C1415900, + UMLS:C1415911, + HGNC:5417, + HGNC_symbol:IFNA1 ; biolink:category biolink:Gene . OMIM:147910 a owl:Class ; @@ -384133,14 +400525,15 @@ OMIM:147910 a owl:Class ; PMID:3853975 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:615953 ; - oboInOwl:hasDbXref UMLS:C1416669 ; oboInOwl:hasExactSynonym "KLK1", "kallikrein 1", "kallikrein, renal/pancreatic/salivary", "kallikrein, tissue" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3816 ; - skos:exactMatch HGNC_symbol:KLK1 ; + skos:exactMatch UMLS:C1416669, + HGNC:6357, + HGNC_symbol:KLK1 ; biolink:category biolink:Gene . OMIM:147920 a owl:Class ; @@ -384204,13 +400597,13 @@ OMIM:147920 a owl:Class ; PMID:9637424, PMID:9741469, PMID:9856564 ; - oboInOwl:hasDbXref UMLS:C0796004 ; oboInOwl:hasExactSynonym "KABUK1", "kabuki make-up syndrome", "kabuki syndrome", "kabuki syndrome 1", "niikawa-kuroki syndrome" ; rdfs:subClassOf OMIMPS:147920 ; + skos:exactMatch UMLS:C0796004 ; biolink:category biolink:Disease . OMIM:147960 a owl:Class ; @@ -384223,7 +400616,6 @@ OMIM:147960 a owl:Class ; PMID:2468530, PMID:2824146, PMID:6602295 ; - oboInOwl:hasDbXref UMLS:C1334308 ; oboInOwl:hasExactSynonym "KLK2", "kallikrein 2", "kallikrein, glandular", @@ -384231,7 +400623,9 @@ OMIM:147960 a owl:Class ; "kallikrein-related peptidase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3817 ; - skos:exactMatch HGNC_symbol:KLK2 ; + skos:exactMatch UMLS:C1334308, + HGNC:6363, + HGNC_symbol:KLK2 ; biolink:category biolink:Gene . OMIM:148050 a owl:Class ; @@ -384248,10 +400642,10 @@ OMIM:148050 a owl:Class ; PMID:7810561, PMID:7834892, PMID:9777340 ; - oboInOwl:hasDbXref UMLS:C0220687 ; oboInOwl:hasExactSynonym "KBGS", "kbg syndrome", "macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies" ; + skos:exactMatch UMLS:C0220687 ; biolink:category biolink:Disease . OMIM:148370 a owl:Class ; @@ -384263,10 +400657,10 @@ OMIM:148370 a owl:Class ; PMID:607500, PMID:7822203, PMID:9311742 ; - oboInOwl:hasDbXref UMLS:C0406756 ; oboInOwl:hasExactSynonym "KWE", "keratolytic winter erythema", "oudtshoorn skin disease" ; + skos:exactMatch UMLS:C0406756 ; biolink:category biolink:Disease . OMIM:148500 a owl:Class ; @@ -384293,11 +400687,11 @@ OMIM:148500 a owl:Class ; PMID:8776604, PMID:9192554, PMID:9798681 ; - oboInOwl:hasDbXref UMLS:C1835664 ; oboInOwl:hasExactSynonym "TOC", "keratosis palmaris et plantaris with esophageal cancer", "palmoplantar keratoderma with esophageal cancer", "tylosis with esophageal cancer" ; + skos:exactMatch UMLS:C1835664 ; biolink:category biolink:Disease . OMIM:148600 a owl:Class ; @@ -384311,13 +400705,13 @@ OMIM:148600 a owl:Class ; PMID:7544664, PMID:8651714, PMID:8733379 ; - oboInOwl:hasDbXref UMLS:C1835662 ; oboInOwl:hasExactSynonym "PPKP1A", "keratodermia palmoplantaris papulosa, buschke-fischer-brauer iia", "keratosis palmoplantaris papulosa", "kppp1", "palmoplantar keratoderma, punctate iia 1", "palmoplantar keratoderma, punctate iia 1a" ; + skos:exactMatch UMLS:C1835662 ; biolink:category biolink:Disease . OMIM:148700 a owl:Class ; @@ -384331,12 +400725,12 @@ OMIM:148700 a owl:Class ; PMID:19157795, PMID:20082890, PMID:7544663 ; - oboInOwl:hasDbXref UMLS:C2931122 ; oboInOwl:hasExactSynonym "PPKS1", "keratoderma, palmoplantar, striate form 1", "keratosis palmoplantaris striata 1", "palmoplantar keratoderma i, striate, focal, or diffuse", "striate palmoplantar keratoderma 1" ; + skos:exactMatch UMLS:C2931122 ; biolink:category biolink:Disease . OMIM:148760 a owl:Class ; @@ -384358,7 +400752,6 @@ OMIM:148760 a owl:Class ; PMID:8548803 ; RO:0002525 CHR:9606chr10q23.33 ; RO:0003303 OMIM:152950 ; - oboInOwl:hasDbXref UMLS:C1416693 ; oboInOwl:hasExactSynonym "KIF11", "eg5, xenopus, homolog of", "kinesin family member 11", @@ -384367,7 +400760,9 @@ OMIM:148760 a owl:Class ; "thyroid hormone receptor-interacting protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3832 ; - skos:exactMatch HGNC_symbol:KIF11 ; + skos:exactMatch UMLS:C1416693, + HGNC:6388, + HGNC_symbol:KIF11 ; biolink:category biolink:Gene . OMIM:148820 a owl:Class ; @@ -384388,12 +400783,12 @@ OMIM:148820 a owl:Class ; PMID:8588597, PMID:8589691, PMID:9279758 ; - oboInOwl:hasDbXref UMLS:C0079661 ; oboInOwl:hasExactSynonym "WS3", "klein-waardenburg syndrome", "waardenburg syndrome with upper limb anomalies", "waardenburg syndrome, iia 3" ; rdfs:subClassOf OMIMPS:193500 ; + skos:exactMatch UMLS:C0079661 ; biolink:category biolink:Disease . OMIM:149000 a owl:Class ; @@ -384429,11 +400824,11 @@ OMIM:149000 a owl:Class ; PMID:9781914, PMID:9803268 ; RO:0002525 CHR:9606chr8q22.3 ; - oboInOwl:hasDbXref UMLS:C0022739 ; oboInOwl:hasExactSynonym "angioosteohypertrophy syndrome", "klippel-trenaunay syndrome", "klippel-trenaunay-weber syndrome", "ktw syndrome" ; + skos:exactMatch UMLS:C0022739 ; biolink:category biolink:Disease . OMIM:149400 a owl:Class ; @@ -384459,9 +400854,6 @@ OMIM:149400 a owl:Class ; PMID:8298642, PMID:8571969, PMID:9812897 ; - oboInOwl:hasDbXref UMLS:C1835614, - UMLS:C4551954, - ORPHA:3197 ; oboInOwl:hasExactSynonym "HKPX1", "exaggerated startle reaction", "hyperekplexia 1", @@ -384473,6 +400865,9 @@ OMIM:149400 a owl:Class ; "stiff-man syndrome, congenital", "stiff-person syndrome, congenital" ; rdfs:subClassOf OMIMPS:149400 ; + skos:exactMatch UMLS:C1835614, + UMLS:C4551954, + ORPHA:3197 ; biolink:category biolink:Disease . OMIM:149700 a owl:Class ; @@ -384482,11 +400877,11 @@ OMIM:149700 a owl:Class ; PMID:21035068, PMID:21185090, PMID:24372406 ; - oboInOwl:hasDbXref UMLS:C1835612 ; oboInOwl:hasExactSynonym "LCDD", "lacrimal duct defect", "lacrimal puncta, absence of", "nasolacrimal duct obstruction" ; + skos:exactMatch UMLS:C1835612 ; biolink:category biolink:Disease . OMIM:149730 a owl:Class ; @@ -384503,11 +400898,11 @@ OMIM:149730 a owl:Class ; PMID:6066655, PMID:8031542, PMID:865946 ; - oboInOwl:hasDbXref UMLS:C0265269 ; oboInOwl:hasExactSynonym "LADD", "lacrimoauriculodentodigital syndrome", "ladd syndrome", "levy-hollister syndrome" ; + skos:exactMatch UMLS:C0265269 ; biolink:category biolink:Disease . OMIM:150000 a owl:Class ; @@ -384545,23 +400940,24 @@ OMIM:150000 a owl:Class ; PMID:8327147 ; RO:0002525 CHR:9606chr11p15.1 ; RO:0003303 OMIM:612933 ; - oboInOwl:hasDbXref UMLS:C1416811 ; oboInOwl:hasExactSynonym "LDHA", "lactate dehydrogenase a", "ldh, subunit m" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3939 ; - skos:exactMatch HGNC_symbol:LDHA ; + skos:exactMatch UMLS:C1416811, + HGNC:6535, + HGNC_symbol:LDHA ; biolink:category biolink:Gene . OMIM:150270 a owl:Class ; rdfs:label "laryngeal adductor paralysis" ; IAO:0000142 PMID:709905 ; RO:0002525 CHR:9606chr6p21.3-p21.2 ; - oboInOwl:hasDbXref UMLS:C0396060 ; oboInOwl:hasExactSynonym "LAP", "laryngeal adductor paralysis", "vocal cord dysfunction, adductor iia" ; + skos:exactMatch UMLS:C0396060 ; biolink:category biolink:Disease . OMIM:150360 a owl:Class ; @@ -384575,11 +400971,11 @@ OMIM:150360 a owl:Class ; PMID:9128930, PMID:9489801, PMID:9741474 ; - oboInOwl:hasDbXref UMLS:C1835494 ; oboInOwl:hasExactSynonym "glottic web, congenital anterior", "laryngeal web, familial", "subglottic bar", - "subglottic web" . + "subglottic web" ; + skos:exactMatch UMLS:C1835494 . OMIM:150400 a owl:Class ; rdfs:label "tooth agenesis, selective, 4" ; @@ -384599,7 +400995,6 @@ OMIM:150400 a owl:Class ; PMID:7649547, PMID:783024, PMID:8498708 ; - oboInOwl:hasDbXref UMLS:C1835492 ; oboInOwl:hasExactSynonym "STHAG4", "lateral incisors, absence of", "lateral incisors, pegged or missing", @@ -384607,17 +401002,18 @@ OMIM:150400 a owl:Class ; "tooth agenesis, selective, 4", "tooth agenesis, selective, 4, with or without ectodermal dysplasia" ; rdfs:subClassOf OMIMPS:106600 ; + skos:exactMatch UMLS:C1835492 ; biolink:category biolink:Disease . OMIM:151001 a owl:Class ; rdfs:label "lentiginosis, inherited patterned" ; IAO:0000142 PMID:15841387, PMID:2673048 ; - oboInOwl:hasDbXref UMLS:C3492944 ; oboInOwl:hasExactSynonym "lentiginosis profusa", "lentiginosis, diffuse", "lentiginosis, generalized", "lentiginosis, inherited patterned" ; + skos:exactMatch UMLS:C3492944 ; biolink:category biolink:Disease . OMIM:151050 a owl:Class ; @@ -384633,10 +401029,10 @@ OMIM:151050 a owl:Class ; PMID:5249155, PMID:6611917, PMID:894410 ; - oboInOwl:hasDbXref UMLS:C0432269 ; oboInOwl:hasExactSynonym "LMHD", "lenz-majewski hyperostotic dwarfism", "lenz-majewski syndrome" ; + skos:exactMatch UMLS:C0432269 ; biolink:category biolink:Disease . OMIM:151290 a owl:Class ; @@ -384646,13 +401042,14 @@ OMIM:151290 a owl:Class ; PMID:12601015, PMID:16982935, PMID:6344083 ; - oboInOwl:hasDbXref UMLS:C1412716 ; oboInOwl:hasExactSynonym "B3GAT1", "beta-1,3-glucuronyltransferase 1", "glucuronosyltransferase p" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27087 ; - skos:exactMatch HGNC_symbol:B3GAT1 ; + skos:exactMatch UMLS:C1412716, + HGNC:921, + HGNC_symbol:B3GAT1 ; biolink:category biolink:Gene . OMIM:151430 a owl:Class ; @@ -384729,15 +401126,16 @@ OMIM:151430 a owl:Class ; PMID:8929532 ; RO:0002525 CHR:9606chr18q21.33 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C0376515, - UMLS:C3887918 ; oboInOwl:hasExactSynonym "BCL2", "b-cell cll/lymphoma 2", "leukemia/lymphoma, b-cell, 2", "oncogene b-cell leukemia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:596 ; - skos:exactMatch HGNC_symbol:BCL2 ; + skos:exactMatch UMLS:C0376515, + UMLS:C3887918, + HGNC:990, + HGNC_symbol:BCL2 ; biolink:category biolink:Gene . OMIM:151450 a owl:Class ; @@ -384753,10 +401151,10 @@ OMIM:151450 a owl:Class ; PMID:6574615, PMID:78583, PMID:87023 ; - oboInOwl:hasDbXref UMLS:C1835410 ; oboInOwl:hasExactSynonym "LAG5", "granulocyte antigen 5", - "leukocyte antigen group five" . + "leukocyte antigen group five" ; + skos:exactMatch UMLS:C1835410 . OMIM:151600 a owl:Class ; rdfs:label "nail disorder, nonsyndromic congenital, 3" ; @@ -384777,8 +401175,6 @@ OMIM:151600 a owl:Class ; PMID:9534904, PMID:9738798, PMID:9833061 ; - oboInOwl:hasDbXref UMLS:C0544855, - ORPHA:2387 ; oboInOwl:hasExactSynonym "NDNC3", "leukonychia punctata", "leukonychia striatus", @@ -384786,6 +401182,8 @@ OMIM:151600 a owl:Class ; "nail disorder, nonsyndromic congenital, 3", "porcelain nails" ; rdfs:subClassOf OMIMPS:161050 ; + skos:exactMatch UMLS:C0544855, + ORPHA:2387 ; biolink:category biolink:Disease . OMIM:151623 a owl:Class ; @@ -384834,14 +401232,14 @@ OMIM:151623 a owl:Class ; PMID:9242456, PMID:9554443, PMID:9703430 ; - oboInOwl:hasDbXref UMLS:C0085390, - UMLS:C2675080 ; oboInOwl:hasExactSynonym "LFS", "li-fraumeni syndrome", "li-fraumeni-like syndrome", "sarcoma family syndrome of 51 and fraumeni", "sbla syndrome" ; rdfs:subClassOf OMIMPS:151623 ; + skos:exactMatch UMLS:C0085390, + UMLS:C2675080 ; biolink:category biolink:Disease . OMIM:151675 a owl:Class ; @@ -384861,7 +401259,6 @@ OMIM:151675 a owl:Class ; PMID:8999869, PMID:9459006, PMID:9759656 ; - oboInOwl:hasDbXref UMLS:C1416805 ; oboInOwl:hasExactSynonym "LCN1", "lipocalin 1", "lipocalin, tear", @@ -384871,7 +401268,9 @@ OMIM:151675 a owl:Class ; "von ebner gland protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3933 ; - skos:exactMatch HGNC_symbol:LCN1 ; + skos:exactMatch UMLS:C1416805, + HGNC:6525, + HGNC_symbol:LCN1 ; biolink:category biolink:Gene . OMIM:152425 a owl:Class ; @@ -384880,7 +401279,6 @@ OMIM:152425 a owl:Class ; PMID:17762044, PMID:2341402, PMID:7490105 ; - oboInOwl:hasDbXref UMLS:C1414518 ; oboInOwl:hasExactSynonym "ACSL1", "acyl-coa synthetase 1", "acyl-coa synthetase long chain family, member 1", @@ -384892,7 +401290,9 @@ OMIM:152425 a owl:Class ; "palmitoyl-coa ligase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2180 ; - skos:exactMatch HGNC_symbol:ACSL1 ; + skos:exactMatch UMLS:C1414518, + HGNC:3569, + HGNC_symbol:ACSL1 ; biolink:category biolink:Gene . OMIM:152430 a owl:Class ; @@ -384919,8 +401319,8 @@ OMIM:152430 a owl:Class ; PMID:8786073, PMID:9449878 ; RO:0002525 CHR:9606chr4q25 ; - oboInOwl:hasDbXref UMLS:C2750617 ; oboInOwl:hasExactSynonym "longevity 1" ; + skos:exactMatch UMLS:C2750617 ; biolink:category biolink:Disease . OMIM:152445 a owl:Class ; @@ -384944,14 +401344,15 @@ OMIM:152445 a owl:Class ; PMID:9326398 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:604117 ; - oboInOwl:hasDbXref UMLS:C1416897, - UMLS:C1832097 ; oboInOwl:hasExactSynonym "LOR", "epidermal differentiation complex", "loricrin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4014 ; - skos:exactMatch HGNC_symbol:LORICRIN ; + skos:exactMatch UMLS:C1416897, + UMLS:C1832097, + HGNC:6663, + HGNC_symbol:LORICRIN ; biolink:category biolink:Gene . OMIM:153550 a owl:Class ; @@ -384977,12 +401378,12 @@ OMIM:153550 a owl:Class ; PMID:8188284, PMID:8427985, PMID:8516290 ; - oboInOwl:hasDbXref UMLS:C0740302, - UMLS:C1835193 ; oboInOwl:hasExactSynonym "5q- syndrome", "chromosome 5q deletion syndrome", "macrocytic anemia, refractory, due to 5q deletion", "megakaryocytes, unilobular nucleated" ; + skos:exactMatch UMLS:C0740302, + UMLS:C1835193 ; biolink:category biolink:Disease . OMIM:153600 a owl:Class ; @@ -385011,11 +401412,11 @@ OMIM:153600 a owl:Class ; PMID:4972660, PMID:6778280, PMID:806230 ; - oboInOwl:hasDbXref UMLS:C1835192, - ORPHA:33226 ; oboInOwl:hasExactSynonym "WM1", "macroglobulinemia, waldenstrom, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:153600 ; + skos:exactMatch UMLS:C1835192, + ORPHA:33226 ; biolink:category biolink:Disease . OMIM:153619 a owl:Class ; @@ -385044,7 +401445,6 @@ OMIM:153619 a owl:Class ; PMID:7729540, PMID:9162064, PMID:9271684 ; - oboInOwl:hasDbXref UMLS:C1416831 ; oboInOwl:hasExactSynonym "LGALS3", "galactoside-binding protein", "galectin 3", @@ -385053,7 +401453,9 @@ OMIM:153619 a owl:Class ; "macrophage galactose-specific lectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3958 ; - skos:exactMatch HGNC_symbol:LGALS3 ; + skos:exactMatch UMLS:C1416831, + HGNC:6563, + HGNC_symbol:LGALS3 ; biolink:category biolink:Gene . OMIM:153800 a owl:Class ; @@ -385063,12 +401465,12 @@ OMIM:153800 a owl:Class ; PMID:10970771, PMID:11818392, PMID:9295268 ; - oboInOwl:hasDbXref UMLS:C3495438 ; oboInOwl:hasExactSynonym "ARMD2", "macular degeneration, age-related, 2", "macular degeneration, senile", "maculopathy, age-related, 2" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C3495438 ; biolink:category biolink:Disease . OMIM:153840 a owl:Class ; @@ -385078,11 +401480,11 @@ OMIM:153840 a owl:Class ; PMID:6607743, PMID:6823974, PMID:9246008 ; - oboInOwl:hasDbXref UMLS:C4551953 ; oboInOwl:hasExactSynonym "VMD1", "macular dystrophy, atypical vitelliform", "macular dystrophy, vitelliform, 1" ; rdfs:subClassOf OMIMPS:153840 ; + skos:exactMatch UMLS:C4551953 ; biolink:category biolink:Disease . OMIM:153870 a owl:Class ; @@ -385090,12 +401492,12 @@ OMIM:153870 a owl:Class ; IAO:0000142 PMID:14691150, PMID:4412179, PMID:7072789 ; - oboInOwl:hasDbXref UMLS:C1828210 ; oboInOwl:hasExactSynonym "RP91", "macular dystrophy, benign concentric annular, formerly", "macular dystrophy, concentric annular, formerly", "retinitis pigmentosa 91" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1828210 ; biolink:category biolink:Disease . OMIM:153880 a owl:Class ; @@ -385108,12 +401510,12 @@ OMIM:153880 a owl:Class ; PMID:970419, PMID:990013 ; RO:0002525 CHR:9606chr7p21-p15 ; - oboInOwl:hasDbXref UMLS:C0024440 ; oboInOwl:hasExactSynonym "DCMD", "cystoid macular dystrophy", "macular dystrophy, dominant cystoid", "macular edema, cystoid", "mddc" ; + skos:exactMatch UMLS:C0024440 ; biolink:category biolink:Disease . OMIM:154020 a owl:Class ; @@ -385124,12 +401526,12 @@ OMIM:154020 a owl:Class ; PMID:25765846, PMID:3298795, PMID:9915957 ; - oboInOwl:hasDbXref UMLS:C1835171 ; oboInOwl:hasExactSynonym "HOMG2", "hypomagnesemia 2, renal", "magnesium loss, isolated renal", "magnesium wasting, renal" ; rdfs:subClassOf OMIMPS:602014 ; + skos:exactMatch UMLS:C1835171 ; biolink:category biolink:Disease . OMIM:154200 a owl:Class ; @@ -385151,8 +401553,6 @@ OMIM:154200 a owl:Class ; PMID:8786100 ; RO:0002525 CHR:9606chr2p15 ; RO:0003303 OMIM:618959 ; - oboInOwl:hasDbXref UMLS:C1417087, - UMLS:C5394553 ; oboInOwl:hasExactSynonym "MDH1", "alpha-keto acid reductase", "aromatic alpha-keto acid reductase", @@ -385160,7 +401560,10 @@ OMIM:154200 a owl:Class ; "malate dehydrogenase, soluble" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4190 ; - skos:exactMatch HGNC_symbol:MDH1 ; + skos:exactMatch UMLS:C1417087, + UMLS:C5394553, + HGNC:6970, + HGNC_symbol:MDH1 ; biolink:category biolink:Gene . OMIM:154230 a owl:Class ; @@ -385178,12 +401581,12 @@ OMIM:154230 a owl:Class ; PMID:9718347, PMID:9718353 ; RO:0002525 CHR:9606chr9p24.3 ; - oboInOwl:hasDbXref UMLS:C2752149 ; oboInOwl:hasExactSynonym "46,xy gonadal dysgenesis, partial or complete, with 9p24.3 deletion", "46,xy sex reversal 4", "SRXY4", "chromosome 9p24.3 deletion syndrome" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C2752149 ; biolink:category biolink:Disease . OMIM:154275 a owl:Class ; @@ -385194,10 +401597,10 @@ OMIM:154275 a owl:Class ; PMID:8395939, PMID:9508059 ; RO:0002525 CHR:9606chr17q11.2-q24 ; - oboInOwl:hasDbXref UMLS:C1835161 ; oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, 2", "mhs2" ; rdfs:subClassOf OMIMPS:145600 ; + skos:exactMatch UMLS:C1835161 ; biolink:category biolink:Disease . OMIM:154276 a owl:Class ; @@ -385206,10 +401609,10 @@ OMIM:154276 a owl:Class ; PMID:7951247, PMID:8395939 ; RO:0002525 CHR:9606chr7q21-q22 ; - oboInOwl:hasDbXref UMLS:C1835160 ; oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, 3", "mhs3" ; rdfs:subClassOf OMIMPS:145600 ; + skos:exactMatch UMLS:C1835160 ; biolink:category biolink:Disease . OMIM:154280 a owl:Class ; @@ -385220,7 +401623,6 @@ OMIM:154280 a owl:Class ; PMID:3871525, PMID:6744274, PMID:7166559 ; - oboInOwl:hasDbXref UMLS:C1419807 ; oboInOwl:hasExactSynonym "SAI1", "malignant transformation suppression 1", "neoplastic transformation, suppression of", @@ -385228,6 +401630,7 @@ OMIM:154280 a owl:Class ; "transformation suppressor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6298 ; + skos:exactMatch UMLS:C1419807 ; biolink:category biolink:Gene . OMIM:154400 a owl:Class ; @@ -385261,13 +401664,13 @@ OMIM:154400 a owl:Class ; PMID:8831135, PMID:9585434, PMID:9949202 ; - oboInOwl:hasDbXref UMLS:C0265245 ; oboInOwl:hasExactSynonym "AFD1", "acrofacial dysostosis 1, nager iia", "afd, nager iia", "mandibulofacial dysostosis, treacher collins type, with limb anomalies", "nager acrofacial dysostosis", "nager syndrome" ; + skos:exactMatch UMLS:C0265245 ; biolink:category biolink:Disease . OMIM:154500 a owl:Class ; @@ -385313,14 +401716,14 @@ OMIM:154500 a owl:Class ; PMID:9042910, PMID:9096354, PMID:9736782 ; - oboInOwl:hasDbXref UMLS:C0242387, - ORPHA:861 ; oboInOwl:hasExactSynonym "TCS1", "mandibulofacial dysostosis", "treacher collins syndrome", "treacher collins syndrome 1", "treacher collins-franceschetti syndrome" ; rdfs:subClassOf OMIMPS:154500 ; + skos:exactMatch UMLS:C0242387, + ORPHA:861 ; biolink:category biolink:Disease . OMIM:154700 a owl:Class ; @@ -385454,11 +401857,11 @@ OMIM:154700 a owl:Class ; PMID:9399842, PMID:9436601, PMID:9761390 ; - oboInOwl:hasDbXref UMLS:C0024796, - UMLS:C4721845 ; oboInOwl:hasExactSynonym "MFS", "marfan syndrome", "marfan syndrome, iia 1" ; + skos:exactMatch UMLS:C0024796, + UMLS:C4721845 ; biolink:category biolink:Disease . OMIM:155310 a owl:Class ; @@ -385491,13 +401894,13 @@ OMIM:155310 a owl:Class ; PMID:873135, PMID:973657, PMID:9934973 ; - oboInOwl:hasDbXref UMLS:C0042781, - UMLS:C1608393 ; oboInOwl:hasExactSynonym "VSCM1", "megaduodenum and/or megacystis", "pseudoobstruction, idiopathic intestinal", "visceral myopathy", "visceral myopathy 1" ; + skos:exactMatch UMLS:C0042781, + UMLS:C1608393 ; biolink:category biolink:Disease . OMIM:155600 a owl:Class ; @@ -385620,9 +402023,6 @@ OMIM:155600 a owl:Class ; PMID:8447320, PMID:8651266 ; RO:0002525 CHR:9606chr1p36 ; - oboInOwl:hasDbXref UMLS:C0151779, - UMLS:C1835047, - UMLS:C2314896 ; oboInOwl:hasExactSynonym "CMM1", "b-k mole syndrome", "dysplastic nevus syndrome, hereditary", @@ -385632,6 +402032,9 @@ OMIM:155600 a owl:Class ; "melanoma, familial", "melanoma, malignant" ; rdfs:subClassOf OMIMPS:155600 ; + skos:exactMatch UMLS:C0151779, + UMLS:C1835047, + UMLS:C2314896 ; biolink:category biolink:Disease . OMIM:155735 a owl:Class ; @@ -385641,7 +402044,6 @@ OMIM:155735 a owl:Class ; PMID:15254537, PMID:7499388, PMID:8378324 ; - oboInOwl:hasDbXref UMLS:C1334487 ; oboInOwl:hasExactSynonym "MCAM", "cd146", "gicerin, chicken, homolog of", @@ -385649,7 +402051,9 @@ OMIM:155735 a owl:Class ; "melanoma-associated glycoprotein muc18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4162 ; - skos:exactMatch HGNC_symbol:MCAM ; + skos:exactMatch UMLS:C1334487, + HGNC:6934, + HGNC_symbol:MCAM ; biolink:category biolink:Gene . OMIM:155900 a owl:Class ; @@ -385661,10 +402065,10 @@ OMIM:155900 a owl:Class ; PMID:761419, PMID:7923865 ; RO:0002525 CHR:9606chr9p11 ; - oboInOwl:hasDbXref UMLS:C0025235 ; oboInOwl:hasExactSynonym "melkersson syndrome", "melkersson-rosenthal syndrome", "mros" ; + skos:exactMatch UMLS:C0025235 ; biolink:category biolink:Disease . OMIM:155950 a owl:Class ; @@ -385681,10 +402085,10 @@ OMIM:155950 a owl:Class ; PMID:8533816, PMID:8958340, PMID:9295073 ; - oboInOwl:hasDbXref UMLS:C3149631, - ORPHA:2485 ; oboInOwl:hasExactSynonym "MEL", "melorheostosis, isolated" ; + skos:exactMatch UMLS:C3149631, + ORPHA:2485 ; biolink:category biolink:Disease . OMIM:156200 a owl:Class ; @@ -385698,14 +402102,14 @@ OMIM:156200 a owl:Class ; PMID:22726846, PMID:23708187, PMID:25853262 ; - oboInOwl:hasDbXref UMLS:C1969562, - UMLS:C3277090 ; oboInOwl:hasExactSynonym "MRD1", "chromosome 2q23.1 deletion syndrome", "chromosome 2q23.1 duplication syndrome", "intellectual developmental disorder, autosomal dominant 1", "mental retardation, autosomal dominant 1" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C1969562, + UMLS:C3277090 ; biolink:category biolink:Disease . OMIM:156232 a owl:Class ; @@ -385723,12 +402127,12 @@ OMIM:156232 a owl:Class ; PMID:9342042, PMID:9609995 ; RO:0002525 CHR:9606chr2q24-q32 ; - oboInOwl:hasDbXref UMLS:C1835009 ; oboInOwl:hasExactSynonym "MMDK", "mdk", "mesomelic dysplasia with ankle, carpal, and tarsal synostosis", "mesomelic dysplasia, kantaputra iia", "mesomelic dysplasia, thai iia" ; + skos:exactMatch UMLS:C1835009 ; biolink:category biolink:Disease . OMIM:156360 a owl:Class ; @@ -385740,14 +402144,15 @@ OMIM:156360 a owl:Class ; PMID:3956270, PMID:6719135, PMID:7133118 ; - oboInOwl:hasDbXref UMLS:C1417402 ; oboInOwl:hasExactSynonym "MT2A", "metallothionein 2", "metallothionein 2 processed pseudogene", "metallothionein 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4502 ; - skos:exactMatch HGNC_symbol:MT2A ; + skos:exactMatch UMLS:C1417402, + HGNC:7406, + HGNC_symbol:MT2A ; biolink:category biolink:Gene . OMIM:156400 a owl:Class ; @@ -385763,10 +402168,10 @@ OMIM:156400 a owl:Class ; PMID:8314082, PMID:9178745, PMID:972797 ; - oboInOwl:hasDbXref UMLS:C0265295 ; oboInOwl:hasExactSynonym "MCDJ", "metaphyseal chondrodysplasia, jansen iia", "metaphyseal chondrodysplasia, murk jansen iia" ; + skos:exactMatch UMLS:C0265295 ; biolink:category biolink:Disease . OMIM:156500 a owl:Class ; @@ -385791,10 +402196,10 @@ OMIM:156500 a owl:Class ; PMID:8361538, PMID:8782043, PMID:9837818 ; - oboInOwl:hasDbXref UMLS:C0265289 ; oboInOwl:hasExactSynonym "MCDS", "metaphyseal chondrodysplasia, schmid iia", "spondylometaphyseal dysplasia, japanese iia" ; + skos:exactMatch UMLS:C0265289 ; biolink:category biolink:Disease . OMIM:156510 a owl:Class ; @@ -385803,9 +402208,9 @@ OMIM:156510 a owl:Class ; PMID:25311905, PMID:29891876, PMID:7137223 ; - oboInOwl:hasDbXref UMLS:C3549874 ; oboInOwl:hasExactSynonym "MDMHB", "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" ; + skos:exactMatch UMLS:C3549874 ; biolink:category biolink:Disease . OMIM:156530 a owl:Class ; @@ -385826,10 +402231,10 @@ OMIM:156530 a owl:Class ; PMID:5433366, PMID:5769297, PMID:6628444 ; - oboInOwl:hasDbXref UMLS:C0265281 ; oboInOwl:hasExactSynonym "MTD", "metatropic dwarfism", "metatropic dysplasia" ; + skos:exactMatch UMLS:C0265281 ; biolink:category biolink:Disease . OMIM:156535 a owl:Class ; @@ -385844,7 +402249,6 @@ OMIM:156535 a owl:Class ; PMID:2004419, PMID:8177735, PMID:9207790 ; - oboInOwl:hasDbXref UMLS:C1417049 ; oboInOwl:hasExactSynonym "MBD1", "cxxc finger protein 3", "mecp1 complex", @@ -385853,7 +402257,9 @@ OMIM:156535 a owl:Class ; "protein containing methyl-cpg-binding domain 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4152 ; - skos:exactMatch HGNC_symbol:MBD1 ; + skos:exactMatch UMLS:C1417049, + HGNC:6916, + HGNC_symbol:MBD1 ; biolink:category biolink:Gene . OMIM:156610 a owl:Class ; @@ -385876,13 +402282,13 @@ OMIM:156610 a owl:Class ; PMID:8779319, PMID:9056567, PMID:9155963 ; - oboInOwl:hasDbXref UMLS:C4551592 ; oboInOwl:hasExactSynonym "CSCSC1", "circumferential skin creases, kunze iia", "michelin tire baby syndrome", "skin creases, congenital symmetric circumferential, 1", "skin creases, multiple benign ring-shaped, of limbs" ; rdfs:subClassOf OMIMPS:156610 ; + skos:exactMatch UMLS:C4551592 ; biolink:category biolink:Disease . OMIM:156850 a owl:Class ; @@ -385892,10 +402298,10 @@ OMIM:156850 a owl:Class ; PMID:1427774, PMID:4470902 ; RO:0002525 CHR:9606chr16p13.3 ; - oboInOwl:hasDbXref UMLS:C1834919 ; oboInOwl:hasExactSynonym "MCOPCT1", "cataract, congenital, with microphthalmia", "microphthalmia, isolated, with cataract 1" ; + skos:exactMatch UMLS:C1834919 ; biolink:category biolink:Disease . OMIM:157140 a owl:Class ; @@ -386055,28 +402461,29 @@ OMIM:157140 a owl:Class ; PMID:9973279 ; RO:0002525 CHR:9606chr17q21.31 ; RO:0003303 OMIM:168600 ; - oboInOwl:hasDbXref UMLS:C0236642, - UMLS:C0338451, - UMLS:C1446659, - UMLS:C1850077, - UMLS:C3148775, - UMLS:C4551863 ; oboInOwl:hasExactSynonym "MAPT", "microtubule-associated protein tau", "mtbt1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4137 ; - skos:exactMatch HGNC_symbol:MAPT ; + skos:exactMatch UMLS:C0236642, + UMLS:C0338451, + UMLS:C1446659, + UMLS:C1850077, + UMLS:C3148775, + UMLS:C4551863, + HGNC:6893, + HGNC_symbol:MAPT ; biolink:category biolink:Gene . OMIM:157560 a owl:Class ; rdfs:label "minisatellite 33.6" ; IAO:0000142 PMID:2793185, PMID:3856104 ; - oboInOwl:hasDbXref UMLS:C1834872 ; oboInOwl:hasExactSynonym "d1s111", "minisatellite 33.6", - "ms336" . + "ms336" ; + skos:exactMatch UMLS:C1834872 . OMIM:157600 a owl:Class ; rdfs:label "mirror movements 1" ; @@ -386090,13 +402497,13 @@ OMIM:157600 a owl:Class ; PMID:24808016, PMID:28250454, PMID:6026070 ; - oboInOwl:hasDbXref UMLS:C1834870 ; oboInOwl:hasExactSynonym "MRMV1", "bimanual synergia", "mirror movements 1", "mirror movements 1 and/or agenesis of the corpus callosum", "mirror movements, congenital" ; rdfs:subClassOf OMIMPS:157600 ; + skos:exactMatch UMLS:C1834870 ; biolink:category biolink:Disease . OMIM:157700 a owl:Class ; @@ -386140,9 +402547,6 @@ OMIM:157700 a owl:Class ; PMID:823889, PMID:937918 ; RO:0002525 CHR:9606chr16p12.1-p11.2 ; - oboInOwl:hasDbXref UMLS:C0340364, - UMLS:C1834819, - ORPHA:741 ; oboInOwl:hasExactSynonym "MVP1", "barlow syndrome", "click-murmur syndrome", @@ -386154,21 +402558,24 @@ OMIM:157700 a owl:Class ; "myxomatous mitral valve prolapse 1", "myxomatous valvular disease, familial" ; rdfs:subClassOf OMIMPS:157700 ; + skos:exactMatch UMLS:C0340364, + UMLS:C1834819, + ORPHA:741 ; biolink:category biolink:Disease . OMIM:157960 a owl:Class ; rdfs:label "moloney leukemia virus integration site 2, mouse, homolog of" ; IAO:0000142 PMID:2793187 ; - oboInOwl:hasDbXref UMLS:C1417195 ; oboInOwl:hasExactSynonym "MLVI2", - "moloney leukemia virus integration site 2, mouse, homolog of" . + "moloney leukemia virus integration site 2, mouse, homolog of" ; + skos:exactMatch UMLS:C1417195 . OMIM:158050 a owl:Class ; rdfs:label "monkey red blood cell receptor" ; - oboInOwl:hasDbXref UMLS:C1834755 ; oboInOwl:hasExactSynonym "MRBC", "b-cell receptor for monkey red blood cells", - "monkey red blood cell receptor" . + "monkey red blood cell receptor" ; + skos:exactMatch UMLS:C1834755 . OMIM:158105 a owl:Class ; rdfs:label "CCL2" ; @@ -386204,9 +402611,6 @@ OMIM:158105 a owl:Class ; PMID:9894674 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:182940 ; - oboInOwl:hasDbXref UMLS:C1337092, - UMLS:C1834750, - UMLS:C1834751 ; oboInOwl:hasExactSynonym "CCL2", "chemokine, cc motif, ligand 2", "coronary artery disease, development of, 1n hiv", @@ -386216,7 +402620,11 @@ OMIM:158105 a owl:Class ; "small inducible cytokine a2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6347 ; - skos:exactMatch HGNC_symbol:CCL2 ; + skos:exactMatch UMLS:C1337092, + UMLS:C1834750, + UMLS:C1834751, + HGNC:10618, + HGNC_symbol:CCL2 ; biolink:category biolink:Gene . OMIM:158300 a owl:Class ; @@ -386234,13 +402642,13 @@ OMIM:158300 a owl:Class ; PMID:6953764, PMID:7039311, PMID:8923935 ; - oboInOwl:hasDbXref UMLS:C0265226 ; oboInOwl:hasExactSynonym "DA7", "arthrogryposis, distal, iia 7", "hecht syndrome", "mouth, inability to open completely, and short finger-flexor tendons", "trismus-pseudocamptodactyly syndrome" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C0265226 ; biolink:category biolink:Disease . OMIM:158310 a owl:Class ; @@ -386255,10 +402663,10 @@ OMIM:158310 a owl:Class ; PMID:7171771, PMID:7659652, PMID:8041653 ; - oboInOwl:hasDbXref UMLS:C1274795, - ORPHA:1839 ; oboInOwl:hasExactSynonym "HMD", "mucoepithelial dysplasia, hereditary" ; + skos:exactMatch UMLS:C1274795, + ORPHA:1839 ; biolink:category biolink:Disease . OMIM:158330 a owl:Class ; @@ -386266,9 +402674,9 @@ OMIM:158330 a owl:Class ; IAO:0000142 PMID:15317892, PMID:16959810, PMID:18182450 ; - oboInOwl:hasDbXref UMLS:C2675014 ; oboInOwl:hasExactSynonym "mullerian aplasia and hyperandrogenism", "mullerian duct failure and hyperandrogenism" ; + skos:exactMatch UMLS:C2675014 ; biolink:category biolink:Disease . OMIM:158340 a owl:Class ; @@ -386303,7 +402711,6 @@ OMIM:158340 a owl:Class ; PMID:8835095 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:174000 ; - oboInOwl:hasDbXref UMLS:C1417490 ; oboInOwl:hasExactSynonym "MUC1", "breast cancer-associated df3 antigen", "epithelial membrane antigen", @@ -386315,7 +402722,9 @@ OMIM:158340 a owl:Class ; "polymorphic epithelial mucin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4582 ; - skos:exactMatch HGNC_symbol:MUC1 ; + skos:exactMatch UMLS:C1417490, + HGNC:7508, + HGNC_symbol:MUC1 ; biolink:category biolink:Gene . OMIM:158580 a owl:Class ; @@ -386328,7 +402737,6 @@ OMIM:158580 a owl:Class ; PMID:2918537, PMID:6505493, PMID:7420092 ; - oboInOwl:hasDbXref UMLS:C1834703 ; oboInOwl:hasExactSynonym "HMN7A", "dhmn7a", "dhmnvp", @@ -386337,6 +402745,7 @@ OMIM:158580 a owl:Class ; "neuronopathy, distal hereditary motor, iia 7a", "neuropathy, distal hereditary motor, iia 7a", "spinal muscular atrophy, distal, with vocal cord paralysis" ; + skos:exactMatch UMLS:C1834703 ; biolink:category biolink:Disease . OMIM:158590 a owl:Class ; @@ -386350,13 +402759,13 @@ OMIM:158590 a owl:Class ; PMID:7125978, PMID:8433103, PMID:8817349 ; - oboInOwl:hasDbXref UMLS:C1834692 ; oboInOwl:hasExactSynonym "HMN2A", "charcot-marie-tooth disease, spinal, 2a", "hmn 2a", "neuronopathy, distal hereditary motor, iia 2a", "neuropathy, distal hereditary motor, iia 2a", "spinal muscular atrophy, distal, adult, autosomal dominant, 2a" ; + skos:exactMatch UMLS:C1834692 ; biolink:category biolink:Disease . OMIM:158901 a owl:Class ; @@ -386370,13 +402779,13 @@ OMIM:158901 a owl:Class ; PMID:24075187, PMID:31600781, PMID:8328457 ; - oboInOwl:hasDbXref UMLS:C1834671 ; oboInOwl:hasExactSynonym "FSHD2", "facioscapulohumeral muscular dystrophy 2, digenic", "fshd2, digenic", "muscular dystrophy, facioscapulohumeral, iia 1b", "muscular dystrophy, facioscapulohumeral, iia 2" ; rdfs:subClassOf OMIMPS:158900 ; + skos:exactMatch UMLS:C1834671 ; biolink:category biolink:Disease . OMIM:159000 a owl:Class ; @@ -386396,11 +402805,11 @@ OMIM:159595 a owl:Class ; PMID:7717402, PMID:8644714 ; RO:0002525 CHR:9606chr21q11.2 ; - oboInOwl:hasDbXref UMLS:C1834582 ; oboInOwl:hasExactSynonym "leukemia, transient", "mst", "myeloproliferative syndrome, transient", "transient abnormal myelopoiesis" ; + skos:exactMatch UMLS:C1834582 ; biolink:category biolink:Disease . OMIM:159950 a owl:Class ; @@ -386409,10 +402818,10 @@ OMIM:159950 a owl:Class ; PMID:22703880, PMID:24164096, PMID:534421 ; - oboInOwl:hasDbXref UMLS:C1834569 ; oboInOwl:hasExactSynonym "SMAPME", "myoclonus, hereditary, with progressive distal muscular atrophy", "spinal muscular atrophy with progressive myoclonic epilepsy" ; + skos:exactMatch UMLS:C1834569 ; biolink:category biolink:Disease . OMIM:160700 a owl:Class ; @@ -386434,10 +402843,10 @@ OMIM:160700 a owl:Class ; PMID:4000200, PMID:9634508 ; RO:0002525 CHR:9606chr18p11.31 ; - oboInOwl:hasDbXref UMLS:C1834531 ; oboInOwl:hasExactSynonym "MYP2", "myopia 2, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1834531 ; biolink:category biolink:Disease . OMIM:160900 a owl:Class ; @@ -386697,14 +403106,14 @@ OMIM:160900 a owl:Class ; PMID:9863607, PMID:9950368, PMID:9973273 ; - oboInOwl:hasDbXref UMLS:C3250443, - ORPHA:273 ; oboInOwl:hasExactSynonym "DM1", "dystrophia myotonica", "dystrophia myotonica 1", "myotonic dystrophy 1", "steinert disease" ; rdfs:subClassOf OMIMPS:160900 ; + skos:exactMatch UMLS:C3250443, + ORPHA:273 ; biolink:category biolink:Disease . OMIM:160980 a owl:Class ; @@ -386744,8 +403153,6 @@ OMIM:160980 a owl:Class ; PMID:9805140, PMID:9843463, PMID:9894167 ; - oboInOwl:hasDbXref UMLS:C0406810, - UMLS:C2607929 ; oboInOwl:hasExactSynonym "CNC1", "carney complex, iia 1", "carney myxoma-endocrine complex", @@ -386753,6 +403160,8 @@ OMIM:160980 a owl:Class ; "lamb syndrome", "myxoma, spotty pigmentation, and endocrine overactivity", "name syndrome" ; + skos:exactMatch UMLS:C0406810, + UMLS:C2607929 ; biolink:category biolink:Disease . OMIM:161000 a owl:Class ; @@ -386765,11 +403174,11 @@ OMIM:161000 a owl:Class ; PMID:16960809, PMID:8496458, PMID:939040 ; - oboInOwl:hasDbXref UMLS:C0343111 ; oboInOwl:hasExactSynonym "NFJS", "naegeli syndrome", "naegeli-franceschetti-jadassohn syndrome", "nfj syndrome" ; + skos:exactMatch UMLS:C0343111 ; biolink:category biolink:Disease . OMIM:161200 a owl:Class ; @@ -386822,14 +403231,14 @@ OMIM:161200 a owl:Class ; PMID:9742578, PMID:9781017, PMID:9837817 ; - oboInOwl:hasDbXref UMLS:C0027341, - ORPHA:2614 ; oboInOwl:hasExactSynonym "NPS", "fong disease", "nail-patella syndrome", "nps1", "onychoosteodysplasia", "turner-kieser syndrome" ; + skos:exactMatch UMLS:C0027341, + ORPHA:2614 ; biolink:category biolink:Disease . OMIM:161400 a owl:Class ; @@ -386876,13 +403285,13 @@ OMIM:161400 a owl:Class ; PMID:9456467, PMID:9484418, PMID:9987919 ; - oboInOwl:hasDbXref UMLS:C0007384, - UMLS:C1834372 ; oboInOwl:hasExactSynonym "NRCLP1", "cataplexy", "narcolepsy 1", "narcoleptic syndrome 1" ; rdfs:subClassOf OMIMPS:161400 ; + skos:exactMatch UMLS:C0007384, + UMLS:C1834372 ; biolink:category biolink:Disease . OMIM:161550 a owl:Class ; @@ -386893,9 +403302,9 @@ OMIM:161550 a owl:Class ; PMID:6874140, PMID:9133461 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C2750548 ; oboInOwl:hasExactSynonym "NPCA2", "nasopharyngeal carcinoma, susceptibility to, 2" ; + skos:exactMatch UMLS:C2750548 ; biolink:category biolink:Disease . OMIM:161900 a owl:Class ; @@ -386911,12 +403320,12 @@ OMIM:161900 a owl:Class ; PMID:6030413, PMID:7296967 ; RO:0002525 CHR:9606chr1q21 ; - oboInOwl:hasDbXref UMLS:C0403443 ; oboInOwl:hasExactSynonym "RFH1", "nephritis, familial, without deafness or ocular defect", "nephropathy, familial", "renal failure, adult-onset", "renal failure, progressive, with hypertension" ; + skos:exactMatch UMLS:C0403443 ; biolink:category biolink:Disease . OMIM:161950 a owl:Class ; @@ -386961,13 +403370,13 @@ OMIM:161950 a owl:Class ; PMID:9259580, PMID:9264010 ; RO:0002525 CHR:9606chr6q22-q23 ; - oboInOwl:hasDbXref UMLS:C3160719 ; oboInOwl:hasExactSynonym "IGAN1", "berger disease", "iga nephropathy, susceptibility to, 1", "igan", "nephritis, iga iia" ; rdfs:subClassOf OMIMPS:161950 ; + skos:exactMatch UMLS:C3160719 ; biolink:category biolink:Disease . OMIM:162100 a owl:Class ; @@ -387001,12 +403410,12 @@ OMIM:162100 a owl:Class ; PMID:9150742, PMID:9237508, PMID:9439655 ; - oboInOwl:hasDbXref UMLS:C1834304 ; oboInOwl:hasExactSynonym "HNA", "amyotrophy, hereditary neuralgic", "amyotrophy, hereditary neuralgic, with predilection for brachial plexus", "brachial plexus neuropathy, hereditary", "neuritis with brachial predilection" ; + skos:exactMatch UMLS:C1834304 ; biolink:category biolink:Disease . OMIM:162200 a owl:Class ; @@ -387274,13 +403683,13 @@ OMIM:162200 a owl:Class ; PMID:9719365, PMID:9783703, PMID:9861023 ; - oboInOwl:hasDbXref UMLS:C0027831, - ORPHA:363700, - ORPHA:636 ; oboInOwl:hasExactSynonym "NF1", "neurofibromatosis, iia 1", "neurofibromatosis, peripheral iia", "von recklinghausen disease" ; + skos:exactMatch UMLS:C0027831, + ORPHA:363700, + ORPHA:636 ; biolink:category biolink:Disease . OMIM:162350 a owl:Class ; @@ -387298,11 +403707,11 @@ OMIM:162350 a owl:Class ; PMID:6153706, PMID:62240, PMID:932739 ; - oboInOwl:hasDbXref UMLS:C1834207 ; oboInOwl:hasExactSynonym "CLN4", "ceroid lipofuscinosis, neuronal, 4 (kufs type)", "ceroid lipofuscinosis, neuronal, parry iia" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C1834207 ; biolink:category biolink:Disease . OMIM:162400 a owl:Class ; @@ -387337,9 +403746,6 @@ OMIM:162400 a owl:Class ; PMID:8673084, PMID:9371409, PMID:9722951 ; - oboInOwl:hasDbXref UMLS:C0020071, - UMLS:C5235211, - ORPHA:36386 ; oboInOwl:hasExactSynonym "HSAN1A", "hsan 1a", "hsan1", @@ -387348,6 +403754,9 @@ OMIM:162400 a owl:Class ; "neuropathy, hereditary sensory radicular, autosomal dominant, iia 1a", "neuropathy, hereditary sensory, iia 1a" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C0020071, + UMLS:C5235211, + ORPHA:36386 ; biolink:category biolink:Disease . OMIM:163730 a owl:Class ; @@ -387399,10 +403808,6 @@ OMIM:163730 a owl:Class ; PMID:9916929 ; RO:0002525 CHR:9606chr17q11.2 ; RO:0003303 OMIM:611162 ; - oboInOwl:hasDbXref UMLS:C1417760, - UMLS:C1970030, - UMLS:C2720293, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "NOS2", "nitric oxide synthase 2", "nitric oxide synthase, inducible", @@ -387411,7 +403816,12 @@ OMIM:163730 a owl:Class ; "nos2a, inducible, hepatocyte" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4843 ; - skos:exactMatch HGNC_symbol:NOS2 ; + skos:exactMatch UMLS:C1417760, + UMLS:C1970030, + UMLS:C2720293, + UMLS:C2986382, + HGNC:7873, + HGNC_symbol:NOS2 ; biolink:category biolink:Gene . OMIM:164010 a owl:Class ; @@ -387425,8 +403835,6 @@ OMIM:164010 a owl:Class ; PMID:8863740 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:614961 ; - oboInOwl:hasDbXref UMLS:C1418385, - UMLS:C3554209 ; oboInOwl:hasExactSynonym "CHMP1A", "charged multivesicular body protein 1a", "chmp family, member 1a", @@ -387437,7 +403845,10 @@ OMIM:164010 a owl:Class ; "procollagen, iia iii, n-endopeptidase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5119 ; - skos:exactMatch HGNC_symbol:CHMP1A ; + skos:exactMatch UMLS:C1418385, + UMLS:C3554209, + HGNC:8740, + HGNC_symbol:CHMP1A ; biolink:category biolink:Gene . OMIM:164015 a owl:Class ; @@ -387452,12 +403863,13 @@ OMIM:164015 a owl:Class ; PMID:9872452 ; RO:0002525 CHR:9606chr5q31.2 ; RO:0003303 OMIM:606070 ; - oboInOwl:hasDbXref UMLS:C1417046 ; oboInOwl:hasExactSynonym "MATR3", "matrin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9782 ; - skos:exactMatch HGNC_symbol:MATR3 ; + skos:exactMatch UMLS:C1417046, + HGNC:6912, + HGNC_symbol:MATR3 ; biolink:category biolink:Gene . OMIM:164100 a owl:Class ; @@ -387470,11 +403882,11 @@ OMIM:164100 a owl:Class ; PMID:8661013, PMID:9437315 ; RO:0002525 CHR:9606chr6p12 ; - oboInOwl:hasDbXref UMLS:C1834079 ; oboInOwl:hasExactSynonym "NYS2", "nystagmus 2, congenital, autosomal dominant", "nystagmus, congenital motor, 2" ; rdfs:subClassOf OMIMPS:310700 ; + skos:exactMatch UMLS:C1834079 ; biolink:category biolink:Disease . OMIM:164210 a owl:Class ; @@ -387538,8 +403950,6 @@ OMIM:164210 a owl:Class ; PMID:8669439, PMID:8818446, PMID:9714437 ; - oboInOwl:hasDbXref UMLS:C0265240, - UMLS:C3495417 ; oboInOwl:hasExactSynonym "CFM", "craniofacial microsomia", "facioauriculovertebral sequence", @@ -387549,6 +403959,8 @@ OMIM:164210 a owl:Class ; "oav dysplasia", "oculoauriculovertebral dysplasia", "oculoauriculovertebral spectrum" ; + skos:exactMatch UMLS:C0265240, + UMLS:C3495417 ; biolink:category biolink:Disease . OMIM:164230 a owl:Class ; @@ -387571,9 +403983,9 @@ OMIM:164230 a owl:Class ; PMID:7524462, PMID:9114031, PMID:9721822 ; - oboInOwl:hasDbXref UMLS:C0028768 ; oboInOwl:hasExactSynonym "OCD", "obsessive-compulsive disorder" ; + skos:exactMatch UMLS:C0028768 ; biolink:category biolink:Disease . OMIM:164310 a owl:Class ; @@ -387583,14 +403995,14 @@ OMIM:164310 a owl:Class ; PMID:31332380, PMID:836191, PMID:9608566 ; - oboInOwl:hasDbXref UMLS:C1834014, - UMLS:C5231388, - ORPHA:98897 ; oboInOwl:hasExactSynonym "OPDM1", "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement", "oculopharyngodistal myopathy", "oculopharyngodistal myopathy 1" ; rdfs:subClassOf OMIMPS:164310 ; + skos:exactMatch UMLS:C1834014, + UMLS:C5231388, + ORPHA:98897 ; biolink:category biolink:Disease . OMIM:164500 a owl:Class ; @@ -387643,7 +404055,6 @@ OMIM:164500 a owl:Class ; PMID:9425905, PMID:9536097, PMID:9736784 ; - oboInOwl:hasDbXref UMLS:C0752125 ; oboInOwl:hasExactSynonym "SCA7", "adca, iia 2", "autosomal dominant cerebellar ataxia, iia 2", @@ -387653,6 +404064,7 @@ OMIM:164500 a owl:Class ; "opca with retinal degeneration", "spinocerebellar ataxia 7" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C0752125 ; biolink:category biolink:Disease . OMIM:164710 a owl:Class ; @@ -387725,12 +404137,6 @@ OMIM:164730 a owl:Class ; PMID:9931326 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:176920 ; - oboInOwl:hasDbXref UMLS:C0812228, - UMLS:C1833970, - UMLS:C1969537, - UMLS:C3277233, - UMLS:C3554519, - UMLS:C4016282 ; oboInOwl:hasExactSynonym "AKT1", "akt serine/threonine kinase 1", "oncogene akt1", @@ -387740,7 +404146,14 @@ OMIM:164730 a owl:Class ; "v-akt murine thymoma viral oncogene homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:207 ; - skos:exactMatch HGNC_symbol:AKT1 ; + skos:exactMatch UMLS:C0812228, + UMLS:C1833970, + UMLS:C1969537, + UMLS:C3277233, + UMLS:C3554519, + UMLS:C4016282, + HGNC:391, + HGNC_symbol:AKT1 ; biolink:category biolink:Gene . OMIM:164745 a owl:Class ; @@ -387749,11 +404162,11 @@ OMIM:164745 a owl:Class ; PMID:24458798, PMID:25759469, PMID:2729357 ; - oboInOwl:hasDbXref UMLS:C2750355 ; oboInOwl:hasExactSynonym "OMOD2", "omodysplasia 2", "omodysplasia, autosomal dominant" ; rdfs:subClassOf OMIMPS:258315 ; + skos:exactMatch UMLS:C2750355 ; biolink:category biolink:Disease . OMIM:164755 a owl:Class ; @@ -387761,13 +404174,14 @@ OMIM:164755 a owl:Class ; IAO:0000142 PMID:1682866, PMID:8114708, PMID:9031624 ; - oboInOwl:hasDbXref UMLS:C1421453 ; oboInOwl:hasExactSynonym "VIS1", "his1", "viral integration site 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7435 ; - skos:exactMatch HGNC_symbol:VIS1 ; + skos:exactMatch UMLS:C1421453, + HGNC:12696, + HGNC_symbol:VIS1 ; biolink:category biolink:Gene . OMIM:164757 a owl:Class ; @@ -387870,7 +404284,17 @@ OMIM:164757 a owl:Class ; PMID:9207797 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:613706 ; - oboInOwl:hasDbXref UMLS:C0812241, + oboInOwl:hasExactSynonym "BRAF", + "b-raf protooncogene, serine/threonine kinase", + "braf/akap9 fusion gene", + "braf/kiaa1549 fusion gene", + "braf1", + "oncogene braf", + "rafb1", + "v-raf murine sarcoma viral oncogene homolog b1" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:673 ; + skos:exactMatch UMLS:C0812241, UMLS:C1275081, UMLS:C1833970, UMLS:C1969389, @@ -387883,18 +404307,9 @@ OMIM:164757 a owl:Class ; UMLS:C3837430, UMLS:C3838632, UMLS:C4016283, - UMLS:C4016284 ; - oboInOwl:hasExactSynonym "BRAF", - "b-raf protooncogene, serine/threonine kinase", - "braf/akap9 fusion gene", - "braf/kiaa1549 fusion gene", - "braf1", - "oncogene braf", - "rafb1", - "v-raf murine sarcoma viral oncogene homolog b1" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:673 ; - skos:exactMatch HGNC_symbol:BRAF ; + UMLS:C4016284, + HGNC:1097, + HGNC_symbol:BRAF ; biolink:category biolink:Gene . OMIM:165300 a owl:Class ; @@ -387903,12 +404318,12 @@ OMIM:165300 a owl:Class ; PMID:15342707, PMID:15924081, PMID:18496845 ; - oboInOwl:hasDbXref UMLS:C1833809, - ORPHA:67036 ; oboInOwl:hasExactSynonym "OPA3", "optic atrophy 3, autosomal dominant", "optic atrophy and cataract, autosomal dominant" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C1833809, + ORPHA:67036 ; biolink:category biolink:Disease . OMIM:165500 a owl:Class ; @@ -387954,14 +404369,14 @@ OMIM:165500 a owl:Class ; PMID:9514489, PMID:9745030, PMID:9917792 ; - oboInOwl:hasDbXref UMLS:C0338508, - ORPHA:98673 ; oboInOwl:hasExactSynonym "OPA1", "kjer-type optic atrophy", "optic atrophy 1", "optic atrophy, juvenile", "optic atrophy, kjer iia" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C0338508, + ORPHA:98673 ; biolink:category biolink:Disease . OMIM:165510 a owl:Class ; @@ -387970,11 +404385,11 @@ OMIM:165510 a owl:Class ; PMID:31298765, PMID:31550237, PMID:31550240 ; - oboInOwl:hasDbXref UMLS:C5435585 ; oboInOwl:hasExactSynonym "OPA13", "optic atrophy 13 with retinal and foveal abnormalities", "optic atrophy with negative electroretinograms, formerly" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C5435585 ; biolink:category biolink:Disease . OMIM:165550 a owl:Class ; @@ -387984,10 +404399,10 @@ OMIM:165550 a owl:Class ; PMID:12721955, PMID:14602762, PMID:9006427 ; - oboInOwl:hasDbXref UMLS:C1833797, - UMLS:C1833798 ; oboInOwl:hasExactSynonym "optic nerve aplasia, bilateral", "optic nerve hypoplasia, bilateral" ; + skos:exactMatch UMLS:C1833797, + UMLS:C1833798 ; biolink:category biolink:Disease . OMIM:165640 a owl:Class ; @@ -388008,17 +404423,18 @@ OMIM:165640 a owl:Class ; PMID:9685330 ; RO:0002525 CHR:9606chr2p25.1 ; RO:0003303 OMIM:619075 ; - oboInOwl:hasDbXref UMLS:C1417932, - UMLS:C1417933, - UMLS:C5436741, - UMLS:C5436942 ; oboInOwl:hasExactSynonym "ODC1", "ornithine decarboxylase 1", "ornithine decarboxylase 2", "ornithine decarboxylase pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4953 ; - skos:exactMatch HGNC_symbol:ODC1 ; + skos:exactMatch UMLS:C1417932, + UMLS:C1417933, + UMLS:C5436741, + UMLS:C5436942, + HGNC:8109, + HGNC_symbol:ODC1 ; biolink:category biolink:Gene . OMIM:165720 a owl:Class ; @@ -388051,12 +404467,12 @@ OMIM:165720 a owl:Class ; PMID:8800435, PMID:9627016, PMID:9663480 ; - oboInOwl:hasDbXref UMLS:C3887876 ; oboInOwl:hasExactSynonym "OS1", "oa", "osteoarthritis of hip, female-specific, susceptibility to", "osteoarthritis susceptibility 1", "osteoarthrosis" ; + skos:exactMatch UMLS:C3887876 ; biolink:category biolink:Disease . OMIM:166000 a owl:Class ; @@ -388077,11 +404493,11 @@ OMIM:166000 a owl:Class ; PMID:563016, PMID:6365306, PMID:733398 ; - oboInOwl:hasDbXref UMLS:C0014084 ; oboInOwl:hasExactSynonym "dyschondroplasia", "enchondromatosis, multiple, ollier iia", "ollier disease", "osteochondromatosis" ; + skos:exactMatch UMLS:C0014084 ; biolink:category biolink:Disease . OMIM:166200 a owl:Class ; @@ -388184,13 +404600,13 @@ OMIM:166200 a owl:Class ; PMID:9386671, PMID:9753709, PMID:9753715 ; - oboInOwl:hasDbXref UMLS:C0023931 ; oboInOwl:hasExactSynonym "OI1", "oi, iia 1", "osteogenesis imperfecta tarda", "osteogenesis imperfecta with blue sclerae", "osteogenesis imperfecta, iia 1" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C0023931 ; biolink:category biolink:Disease . OMIM:166210 a owl:Class ; @@ -388252,7 +404668,6 @@ OMIM:166210 a owl:Class ; PMID:7643358, PMID:8588588, PMID:865078 ; - oboInOwl:hasDbXref UMLS:C0268358 ; oboInOwl:hasExactSynonym "OI2", "oi, iia 2", "osteogenesis imperfecta congenita", @@ -388260,6 +404675,7 @@ OMIM:166210 a owl:Class ; "osteogenesis imperfecta, iia 2", "vrolik iia of osteogenesis imperfecta" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C0268358 ; biolink:category biolink:Disease . OMIM:166300 a owl:Class ; @@ -388284,12 +404700,12 @@ OMIM:166300 a owl:Class ; PMID:7360298, PMID:8471218, PMID:999328 ; - oboInOwl:hasDbXref UMLS:C2674705, - ORPHA:2774 ; oboInOwl:hasExactSynonym "MCTO", "multicentric carpotarsal osteolysis syndrome", "multicentric osteolysis, autosomal dominant", "osteolysis, hereditary, of carpal bones with or without nephropathy" ; + skos:exactMatch UMLS:C2674705, + ORPHA:2774 ; biolink:category biolink:Disease . OMIM:166700 a owl:Class ; @@ -388324,9 +404740,6 @@ OMIM:166700 a owl:Class ; PMID:7888140, PMID:843441, PMID:9295073 ; - oboInOwl:hasDbXref UMLS:C0265514, - ORPHA:1306, - ORPHA:166119 ; oboInOwl:hasExactSynonym "BOS", "buschke-ollendorff syndrome", "dermatofibrosis lenticularis disseminata with osteopoikilosis", @@ -388336,14 +404749,17 @@ OMIM:166700 a owl:Class ; "osteopathia condensans disseminata", "osteopoikilosis with melorheostosis", "osteopoikilosis, isolated" ; + skos:exactMatch UMLS:C0265514, + ORPHA:1306, + ORPHA:166119 ; biolink:category biolink:Disease . OMIM:166740 a owl:Class ; rdfs:label "osteosclerosis with ichthyosis and fractures" ; IAO:0000142 PMID:471563 ; - oboInOwl:hasDbXref UMLS:C1833697 ; oboInOwl:hasExactSynonym "cortical thickening of long bones with bowing and ichthyosis", - "osteosclerosis with ichthyosis and fractures" . + "osteosclerosis with ichthyosis and fractures" ; + skos:exactMatch UMLS:C1833697 . OMIM:166760 a owl:Class ; rdfs:label "otitis media, susceptibility to" ; @@ -388354,11 +404770,11 @@ OMIM:166760 a owl:Class ; PMID:26121085, PMID:27484237, PMID:3569876 ; - oboInOwl:hasDbXref UMLS:C1833692 ; oboInOwl:hasExactSynonym "OMS", "come/rom", "otitis media, chronic/recurrent", "otitis media, susceptibility to" ; + skos:exactMatch UMLS:C1833692 ; biolink:category biolink:Disease . OMIM:166800 a owl:Class ; @@ -388373,11 +404789,11 @@ OMIM:166800 a owl:Class ; PMID:8215216, PMID:9425236 ; RO:0002525 CHR:9606chr15q26.1-qter ; - oboInOwl:hasDbXref UMLS:C4551901 ; oboInOwl:hasExactSynonym "OTSC1", "otosclerosis 1", "ots" ; rdfs:subClassOf OMIMPS:166800 ; + skos:exactMatch UMLS:C4551901 ; biolink:category biolink:Disease . OMIM:167030 a owl:Class ; @@ -388400,11 +404816,11 @@ OMIM:167030 a owl:Class ; PMID:6145933, PMID:7412965, PMID:933067 ; - oboInOwl:hasDbXref UMLS:C1833683 ; oboInOwl:hasExactSynonym "CAON", "kidney stones", "nephrolithiasis, calcium oxalate", "urolithiasis, calcium oxalate" ; + skos:exactMatch UMLS:C1833683 ; biolink:category biolink:Disease . OMIM:167250 a owl:Class ; @@ -388441,10 +404857,10 @@ OMIM:167250 a owl:Class ; PMID:959849, PMID:9626117, PMID:9626621 ; - oboInOwl:hasDbXref UMLS:C4085252 ; oboInOwl:hasExactSynonym "PDB3", "paget disease of bone 3" ; rdfs:subClassOf OMIMPS:167250 ; + skos:exactMatch UMLS:C4085252 ; biolink:category biolink:Disease . OMIM:167870 a owl:Class ; @@ -388475,42 +404891,44 @@ OMIM:167870 a owl:Class ; PMID:9734536, PMID:9754693 ; RO:0002525 CHR:9606chr13q22-q32 ; - oboInOwl:hasDbXref UMLS:C1868649, - UMLS:C1868650, - UMLS:C1868651 ; oboInOwl:hasExactSynonym "PAND1", "panic disorder 1", "panic disorder susceptibility locus, chromosome 13q-related", "panic disorder with bladder conditions", "panic disorder with joint laxity" ; + skos:exactMatch UMLS:C1868649, + UMLS:C1868650, + UMLS:C1868651 ; biolink:category biolink:Disease . OMIM:167959 a owl:Class ; rdfs:label "human papillomavirus iia 18 integration site 1" ; IAO:0000142 PMID:1649348, PMID:3029760 ; - oboInOwl:hasDbXref UMLS:C3887947 ; oboInOwl:hasExactSynonym "HPV18I1", "human papillomavirus iia 18 integration site 1", "papillomavirus iia 18 integration site 1" ; - skos:exactMatch HGNC_symbol:HPV18I1 . + skos:exactMatch UMLS:C3887947, + HGNC:5166, + HGNC_symbol:HPV18I1 . OMIM:167960 a owl:Class ; rdfs:label "human papillomavirus iia 18 integration site 2" ; IAO:0000142 PMID:3029760 ; - oboInOwl:hasDbXref UMLS:C3887948 ; oboInOwl:hasExactSynonym "HPV18I2", "human papillomavirus iia 18 integration site 2", "papillomavirus iia 18 integration site 2" ; - skos:exactMatch HGNC_symbol:HPV18I2 . + skos:exactMatch UMLS:C3887948, + HGNC:5167, + HGNC_symbol:HPV18I2 . OMIM:168550 a owl:Class ; rdfs:label "parietal foramina with cleidocranial dysplasia" ; IAO:0000142 PMID:14571277 ; - oboInOwl:hasDbXref UMLS:C1868597 ; oboInOwl:hasExactSynonym "PFMCCD", "cleidocranial dysplasia with parietal foramina", "parietal foramina with cleidocranial dysplasia" ; + skos:exactMatch UMLS:C1868597 ; biolink:category biolink:Disease . OMIM:168601 a owl:Class ; @@ -388540,13 +404958,13 @@ OMIM:168601 a owl:Class ; PMID:8895469, PMID:8957018, PMID:9197268 ; - oboInOwl:hasDbXref UMLS:C1868595, - UMLS:C1868596 ; oboInOwl:hasExactSynonym "PARK1", "atypical parkinson disease", "parkinson disease 1, autosomal dominant", "parkinson disease 1, autosomal dominant lewy body" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1868595, + UMLS:C1868596 ; biolink:category biolink:Disease . OMIM:168860 a owl:Class ; @@ -388557,9 +404975,9 @@ OMIM:168860 a owl:Class ; PMID:4760095, PMID:657574 ; RO:0002525 CHR:9606chr17q21-q22 ; - oboInOwl:hasDbXref UMLS:C1868577 ; oboInOwl:hasExactSynonym "PTLAH", "patella aplasia-hypoplasia" ; + skos:exactMatch UMLS:C1868577 ; biolink:category biolink:Disease . OMIM:169100 a owl:Class ; @@ -388574,10 +404992,10 @@ OMIM:169100 a owl:Class ; PMID:7645594, PMID:8326495, PMID:9217229 ; - oboInOwl:hasDbXref UMLS:C1868570 ; oboInOwl:hasExactSynonym "CHAR", "char syndrome", "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" ; + skos:exactMatch UMLS:C1868570 ; biolink:category biolink:Disease . OMIM:169150 a owl:Class ; @@ -388595,13 +405013,13 @@ OMIM:169150 a owl:Class ; PMID:8689482, PMID:900215, PMID:9443872 ; - oboInOwl:hasDbXref UMLS:C4551999 ; oboInOwl:hasExactSynonym "MDPT1", "butterfly dystrophy of retinal pigment epithelium", "macular dystrophy, butterfly-shaped pigmentary", "macular dystrophy, patterned, 1", "patterned dystrophy of retinal pigment epithelium" ; rdfs:subClassOf OMIMPS:169150 ; + skos:exactMatch UMLS:C4551999 ; biolink:category biolink:Disease . OMIM:169400 a owl:Class ; @@ -388622,9 +405040,9 @@ OMIM:169400 a owl:Class ; PMID:7053717, PMID:848354, PMID:8611447 ; - oboInOwl:hasDbXref UMLS:C0030779 ; oboInOwl:hasExactSynonym "PHA", "pelger-huet anomaly" ; + skos:exactMatch UMLS:C0030779 ; biolink:category biolink:Disease . OMIM:169600 a owl:Class ; @@ -388648,22 +405066,23 @@ OMIM:169600 a owl:Class ; PMID:7981684, PMID:8215508, PMID:8595906 ; - oboInOwl:hasDbXref UMLS:C0085106 ; oboInOwl:hasExactSynonym "BCPM", "benign chronic pemphigus", "hailey-hailey disease", "pemphigus, benign familial" ; + skos:exactMatch UMLS:C0085106 ; biolink:category biolink:Disease . OMIM:169710 a owl:Class ; rdfs:label "pepsinogen 3, group 1" ; IAO:0000142 PMID:2566575, PMID:6767433 ; - oboInOwl:hasDbXref UMLS:C3887963 ; oboInOwl:hasExactSynonym "PGA3", "pepsinogen 3, group 1", "pepsinogen i--second locus" ; - skos:exactMatch HGNC_symbol:PGA3 . + skos:exactMatch UMLS:C3887963, + HGNC:8885, + HGNC_symbol:PGA3 . OMIM:170100 a owl:Class ; rdfs:label "prolidase deficiency" ; @@ -388692,8 +405111,8 @@ OMIM:170100 a owl:Class ; PMID:8900231, PMID:908977, PMID:9196362 ; - oboInOwl:hasDbXref UMLS:C0268532 ; oboInOwl:hasExactSynonym "prolidase deficiency" ; + skos:exactMatch UMLS:C0268532 ; biolink:category biolink:Disease . OMIM:170400 a owl:Class ; @@ -388727,10 +405146,10 @@ OMIM:170400 a owl:Class ; PMID:8004673, PMID:8012389, PMID:889124 ; - oboInOwl:hasDbXref UMLS:C3714580 ; oboInOwl:hasExactSynonym "HOKPP1", "hypokalemic periodic paralysis", "hypokalemic periodic paralysis, iia 1" ; + skos:exactMatch UMLS:C3714580 ; biolink:category biolink:Disease . OMIM:170715 a owl:Class ; @@ -388744,13 +405163,14 @@ OMIM:170715 a owl:Class ; PMID:8288226 ; RO:0002525 CHR:9606chr8q21.13 ; RO:0003303 OMIM:618279 ; - oboInOwl:hasDbXref UMLS:C1418676 ; oboInOwl:hasExactSynonym "PMP2", "myelin p2 protein", "peripheral myelin protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5375 ; - skos:exactMatch HGNC_symbol:PMP2 ; + skos:exactMatch UMLS:C1418676, + HGNC:9117, + HGNC_symbol:PMP2 ; biolink:category biolink:Gene . OMIM:171200 a owl:Class ; @@ -388781,17 +405201,17 @@ OMIM:171200 a owl:Class ; PMID:962321, PMID:976995, PMID:9792854 ; - oboInOwl:hasDbXref UMLS:C1868397, - UMLS:C1868398, - UMLS:C1868399, - UMLS:C1868400, - UMLS:C1868401 ; oboInOwl:hasExactSynonym "THIOT", "phenylthiocarbamide tasting", "prop tasting", "propylthiouracil tasting", "ptc tasting", "thiourea tasting" ; + skos:exactMatch UMLS:C1868397, + UMLS:C1868398, + UMLS:C1868399, + UMLS:C1868400, + UMLS:C1868401 ; biolink:category biolink:Disease . OMIM:171720 a owl:Class ; @@ -388806,11 +405226,11 @@ OMIM:171720 a owl:Class ; PMID:7053722, PMID:7435471 ; RO:0002525 CHR:9606chr9q34.13 ; - oboInOwl:hasDbXref UMLS:C1868387 ; oboInOwl:hasExactSynonym "alkaline phosphatase, elevated serum", "alkaline phosphatase, plasma level of, quantitative trait locus 1", "alpqtl1", "hyperphosphatasemia, benign familial" ; + skos:exactMatch UMLS:C1868387 ; biolink:category biolink:Disease . OMIM:172100 a owl:Class ; @@ -388841,14 +405261,15 @@ OMIM:172100 a owl:Class ; PMID:975915 ; RO:0002525 CHR:9606chr6q14.1 ; RO:0003303 OMIM:615816 ; - oboInOwl:hasDbXref UMLS:C1418518, - UMLS:C4014371 ; oboInOwl:hasExactSynonym "PGM3", "n-acetylglucosamine-phosphate mutase 1", "phosphoglucomutase 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5238 ; - skos:exactMatch HGNC_symbol:PGM3 ; + skos:exactMatch UMLS:C1418518, + UMLS:C4014371, + HGNC:8907, + HGNC_symbol:PGM3 ; biolink:category biolink:Gene . OMIM:172250 a owl:Class ; @@ -388862,14 +405283,15 @@ OMIM:172250 a owl:Class ; PMID:6282177, PMID:6360555, PMID:8829551 ; - oboInOwl:hasDbXref UMLS:C1418501 ; oboInOwl:hasExactSynonym "PGAM1", "phosphoglycerate mutase 1", "phosphoglycerate mutase a", "phosphoglycerate mutase, brain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5223 ; - skos:exactMatch HGNC_symbol:PGAM1 ; + skos:exactMatch UMLS:C1418501, + HGNC:8888, + HGNC_symbol:PGAM1 ; biolink:category biolink:Gene . OMIM:172411 a owl:Class ; @@ -388895,7 +405317,6 @@ OMIM:172411 a owl:Class ; PMID:9312327 ; RO:0002525 CHR:9606chr1p36.13 ; RO:0003303 OMIM:114500 ; - oboInOwl:hasDbXref UMLS:C1335221 ; oboInOwl:hasExactSynonym "PLA2G2A", "modifier of min-1, mouse, homolog of", "phospholipase a2 polypeptide B", @@ -388903,7 +405324,9 @@ OMIM:172411 a owl:Class ; "phospholipase a2, synovial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5320 ; - skos:exactMatch HGNC_symbol:PLA2G2A ; + skos:exactMatch UMLS:C1335221, + HGNC:9031, + HGNC_symbol:PLA2G2A ; biolink:category biolink:Gene . OMIM:172460 a owl:Class ; @@ -388935,11 +405358,6 @@ OMIM:172460 a owl:Class ; PMID:9611072 ; RO:0002525 CHR:9606chr14q23.3 ; RO:0003303 OMIM:601634 ; - oboInOwl:hasDbXref UMLS:C1417420, - UMLS:C4016262, - UMLS:C4016322, - UMLS:C4540543, - UMLS:C4540670 ; oboInOwl:hasExactSynonym "MTHFD1", "c1-tetrahydrofolate synthase, cytoplasmic", "c1-thf-synthase", @@ -388948,7 +405366,13 @@ OMIM:172460 a owl:Class ; "methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase, nadp(+)-dependent" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4522 ; - skos:exactMatch HGNC_symbol:MTHFD1 ; + skos:exactMatch UMLS:C1417420, + UMLS:C4016262, + UMLS:C4016322, + UMLS:C4540543, + UMLS:C4540670, + HGNC:7432, + HGNC_symbol:MTHFD1 ; biolink:category biolink:Gene . OMIM:172471 a owl:Class ; @@ -388967,12 +405391,13 @@ OMIM:172471 a owl:Class ; PMID:9384616 ; RO:0002525 CHR:9606chr16p11.2 ; RO:0003303 OMIM:613027 ; - oboInOwl:hasDbXref UMLS:C1418538 ; oboInOwl:hasExactSynonym "PHKG2", "phosphorylase kinase, testis/liver, gamma-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5261 ; - skos:exactMatch HGNC_symbol:PHKG2 ; + skos:exactMatch UMLS:C1418538, + HGNC:8931, + HGNC_symbol:PHKG2 ; biolink:category biolink:Gene . OMIM:172700 a owl:Class ; @@ -389000,10 +405425,10 @@ OMIM:172700 a owl:Class ; PMID:8006666, PMID:9029063, PMID:9641683 ; - oboInOwl:hasDbXref UMLS:C0236642 ; oboInOwl:hasExactSynonym "dementia with lobar atrophy and neuronal cytoplasmic inclusions", "lobar atrophy of brain", "pick disease of brain" ; + skos:exactMatch UMLS:C0236642 ; biolink:category biolink:Disease . OMIM:172800 a owl:Class ; @@ -389035,10 +405460,10 @@ OMIM:172800 a owl:Class ; PMID:930930, PMID:9450866, PMID:9699740 ; - oboInOwl:hasDbXref UMLS:C0080024 ; oboInOwl:hasExactSynonym "PBT", "piebald trait", "piebaldism" ; + skos:exactMatch UMLS:C0080024 ; biolink:category biolink:Disease . OMIM:173310 a owl:Class ; @@ -389050,7 +405475,6 @@ OMIM:173310 a owl:Class ; PMID:5534301, PMID:7829063, PMID:8943270 ; - oboInOwl:hasDbXref UMLS:C1418244 ; oboInOwl:hasExactSynonym "PAEP", "beta-lactoglobulin", "glycodelin-a", @@ -389061,7 +405485,9 @@ OMIM:173310 a owl:Class ; "progestagen-dependent endometrial protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5047 ; - skos:exactMatch HGNC_symbol:PAEP ; + skos:exactMatch UMLS:C1418244, + HGNC:8573, + HGNC_symbol:PAEP ; biolink:category biolink:Gene . OMIM:173321 a owl:Class ; @@ -389078,7 +405504,6 @@ OMIM:173321 a owl:Class ; PMID:8614560 ; RO:0002525 CHR:9606chr6p25.2 ; RO:0003303 OMIM:613453 ; - oboInOwl:hasDbXref UMLS:C1418551 ; oboInOwl:hasExactSynonym "SERPINB6", "placental thrombin inhibitor", "protease inhibitor 6", @@ -389086,7 +405511,9 @@ OMIM:173321 a owl:Class ; "spi3, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5269 ; - skos:exactMatch HGNC_symbol:SERPINB6 ; + skos:exactMatch UMLS:C1418551, + HGNC:8950, + HGNC_symbol:SERPINB6 ; biolink:category biolink:Gene . OMIM:173650 a owl:Class ; @@ -389104,12 +405531,12 @@ OMIM:173650 a owl:Class ; PMID:8910840, PMID:8961879, PMID:9301588 ; - oboInOwl:hasDbXref UMLS:C0406557 ; oboInOwl:hasExactSynonym "KNDLRS", "bullous acrokeratotic poikiloderma of kindler and weary", "kindler syndrome", "poikiloderma, congenital, with bullae, weary iia", "poikiloderma, hereditary acrokeratotic" ; + skos:exactMatch UMLS:C0406557 ; biolink:category biolink:Disease . OMIM:173800 a owl:Class ; @@ -389152,13 +405579,13 @@ OMIM:173800 a owl:Class ; PMID:9184248, PMID:9489794, PMID:9880227 ; - oboInOwl:hasDbXref UMLS:C0032357, - UMLS:C1868156 ; oboInOwl:hasExactSynonym "pectoralis muscle, absence of", "poland anomaly", "poland sequence", "poland syndactyly", "poland syndrome" ; + skos:exactMatch UMLS:C0032357, + UMLS:C1868156 ; biolink:category biolink:Disease . OMIM:173870 a owl:Class ; @@ -389212,7 +405639,6 @@ OMIM:173870 a owl:Class ; PMID:7596430, PMID:8434580, PMID:8571971 ; - oboInOwl:hasDbXref UMLS:C1538577 ; oboInOwl:hasExactSynonym "PARP1", "adp-ribosyltransferase", "adprt1", @@ -389221,7 +405647,9 @@ OMIM:173870 a owl:Class ; "poly(adp-ribose) synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:142 ; - skos:exactMatch HGNC_symbol:PARP1 ; + skos:exactMatch UMLS:C1538577, + HGNC:270, + HGNC_symbol:PARP1 ; biolink:category biolink:Gene . OMIM:173900 a owl:Class ; @@ -389335,14 +405763,14 @@ OMIM:173900 a owl:Class ; PMID:9650770, PMID:9832641, PMID:9844156 ; - oboInOwl:hasDbXref UMLS:C0085413, - UMLS:C3149841 ; oboInOwl:hasExactSynonym "PKD1", "polycystic kidney disease 1 with or without polycystic liver disease", "polycystic kidney disease, adult", "polycystic kidney disease, adult, iia 1", "potter iia 3 polycystic kidney disease, formerly" ; rdfs:subClassOf OMIMPS:173900 ; + skos:exactMatch UMLS:C0085413, + UMLS:C3149841 ; biolink:category biolink:Disease . OMIM:174000 a owl:Class ; @@ -389372,7 +405800,6 @@ OMIM:174000 a owl:Class ; PMID:881899, PMID:9536096, PMID:9605289 ; - oboInOwl:hasDbXref UMLS:C1868139 ; oboInOwl:hasExactSynonym "ADTKD2", "mckd", "medullary cystic kidney disease 1", @@ -389380,6 +405807,7 @@ OMIM:174000 a owl:Class ; "polycystic kidneys, medullary iia", "tubulointerstitial kidney disease, autosomal dominant, 2" ; rdfs:subClassOf OMIMPS:162000 ; + skos:exactMatch UMLS:C1868139 ; biolink:category biolink:Disease . OMIM:174050 a owl:Class ; @@ -389394,10 +405822,10 @@ OMIM:174050 a owl:Class ; PMID:508507, PMID:7116679, PMID:7209396 ; - oboInOwl:hasDbXref UMLS:C0887850 ; oboInOwl:hasExactSynonym "PCLD1", "polycystic liver disease 1 with or without kidney cysts" ; rdfs:subClassOf OMIMPS:174050 ; + skos:exactMatch UMLS:C0887850 ; biolink:category biolink:Disease . OMIM:174300 a owl:Class ; @@ -389406,8 +405834,6 @@ OMIM:174300 a owl:Class ; PMID:23972372, PMID:7150858, PMID:7426821 ; - oboInOwl:hasDbXref UMLS:C1868118, - ORPHA:2919 ; oboInOwl:hasExactSynonym "OFD5", "ofds 5", "oral-facial-digital syndrome, iia 5", @@ -389416,6 +405842,8 @@ OMIM:174300 a owl:Class ; "polydactyly, postaxial, with median cleft of upper 51p", "thurston syndrome" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C1868118, + ORPHA:2919 ; biolink:category biolink:Disease . OMIM:174400 a owl:Class ; @@ -389428,8 +405856,6 @@ OMIM:174400 a owl:Class ; PMID:3816011, PMID:65459, PMID:9375922 ; - oboInOwl:hasDbXref UMLS:C1395852, - UMLS:C1846474 ; oboInOwl:hasExactSynonym "PPD1", "fromont anomaly", "polydactyly, preaxial", @@ -389437,6 +405863,8 @@ OMIM:174400 a owl:Class ; "thenar hypoplasia", "thumb polydactyly" ; rdfs:subClassOf OMIMPS:174400 ; + skos:exactMatch UMLS:C1395852, + UMLS:C1846474 ; biolink:category biolink:Disease . OMIM:174700 a owl:Class ; @@ -389449,21 +405877,21 @@ OMIM:174700 a owl:Class ; PMID:1887848, PMID:6641002, PMID:6705259 ; - oboInOwl:hasDbXref UMLS:C1868111, - UMLS:C1868112 ; oboInOwl:hasExactSynonym "PPD4", "crossed polydactyly, iia 1", "polydactyly, preaxial 4", "polysyndactyly, uncomplicated" ; rdfs:subClassOf OMIMPS:174400 ; + skos:exactMatch UMLS:C1868111, + UMLS:C1868112 ; biolink:category biolink:Disease . OMIM:174750 a owl:Class ; rdfs:label "polykaryocytosis inducer" ; IAO:0000142 PMID:752487 ; - oboInOwl:hasDbXref UMLS:C3887935 ; oboInOwl:hasExactSynonym "FUSE", - "polykaryocytosis inducer" . + "polykaryocytosis inducer" ; + skos:exactMatch UMLS:C3887935 . OMIM:174800 a owl:Class ; rdfs:label "mccune-albright syndrome" ; @@ -389524,12 +405952,12 @@ OMIM:174800 a owl:Class ; PMID:948543, PMID:9541481, PMID:9541505 ; - oboInOwl:hasDbXref UMLS:C0016065, - UMLS:C0242292 ; oboInOwl:hasExactSynonym "MAS", "albright syndrome", "mccune-albright syndrome", "polyostotic fibrous dysplasia" ; + skos:exactMatch UMLS:C0016065, + UMLS:C0242292 ; biolink:category biolink:Disease . OMIM:175780 a owl:Class ; @@ -389563,11 +405991,6 @@ OMIM:175780 a owl:Class ; PMID:6428250, PMID:6615288, PMID:7257746 ; - oboInOwl:hasDbXref UMLS:C2675650, - UMLS:C4551998, - ORPHA:2940, - ORPHA:36383, - ORPHA:99810 ; oboInOwl:hasExactSynonym "BSVD1", "brain small vessel disease 1 with or without ocular anomalies", "brain small vessel disease with axenfeld-rieger anomaly", @@ -389579,6 +406002,11 @@ OMIM:175780 a owl:Class ; "porencephaly, iia 1, formerly", "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" ; rdfs:subClassOf OMIMPS:175780 ; + skos:exactMatch UMLS:C2675650, + UMLS:C4551998, + ORPHA:2940, + ORPHA:36383, + ORPHA:99810 ; biolink:category biolink:Disease . OMIM:175800 a owl:Class ; @@ -389595,11 +406023,11 @@ OMIM:175800 a owl:Class ; PMID:5414891, PMID:6498091, PMID:9188872 ; - oboInOwl:hasDbXref UMLS:C0949506 ; oboInOwl:hasExactSynonym "POROK1", "porokeratosis 1, multiple types", "porokeratosis of mibelli" ; rdfs:subClassOf OMIMPS:175800 ; + skos:exactMatch UMLS:C0949506 ; biolink:category biolink:Disease . OMIM:175850 a owl:Class ; @@ -389608,7 +406036,6 @@ OMIM:175850 a owl:Class ; PMID:5114411, PMID:9188872 ; RO:0002525 CHR:9606chr12q24.1-q24.2 ; - oboInOwl:hasDbXref UMLS:C0162838 ; oboInOwl:hasExactSynonym "POROK2", "porokeratosis 2, palmar, plantar, and disseminated iia", "porokeratosis palmaris et plantaris disseminata", @@ -389616,6 +406043,7 @@ OMIM:175850 a owl:Class ; "porokeratosis, palmar, plantar, and disseminated", "porokeratosis, palmar, plantar, and disseminated, 1" ; rdfs:subClassOf OMIMPS:175800 ; + skos:exactMatch UMLS:C0162838 ; biolink:category biolink:Disease . OMIM:175900 a owl:Class ; @@ -389640,11 +406068,11 @@ OMIM:175900 a owl:Class ; PMID:7212751, PMID:9188872, PMID:974029 ; - oboInOwl:hasDbXref UMLS:C1867981 ; oboInOwl:hasExactSynonym "POROK3", "porokeratosis 3, multiple types", "porokeratosis, disseminated superficial actinic, 1" ; rdfs:subClassOf OMIMPS:175800 ; + skos:exactMatch UMLS:C1867981 ; biolink:category biolink:Disease . OMIM:176100 a owl:Class ; @@ -389703,8 +406131,6 @@ OMIM:176100 a owl:Class ; PMID:9792863, PMID:9806541, PMID:993332 ; - oboInOwl:hasDbXref UMLS:C0162566, - UMLS:C0162569 ; oboInOwl:hasExactSynonym "pct", "pct, iia 2", "pct, 'familial' iia", @@ -389714,6 +406140,8 @@ OMIM:176100 a owl:Class ; "porphyria, hepatoerythropoietic", "urod deficiency", "uroporphyrinogen decarboxylase deficiency" ; + skos:exactMatch UMLS:C0162566, + UMLS:C0162569 ; biolink:category biolink:Disease . OMIM:176266 a owl:Class ; @@ -389732,7 +406160,6 @@ OMIM:176266 a owl:Class ; PMID:8449523 ; RO:0002525 CHR:9606chr11p14.1 ; RO:0003303 OMIM:618284 ; - oboInOwl:hasDbXref UMLS:C1416547 ; oboInOwl:hasExactSynonym "KCNA4", "hk1", "potassium channel 2", @@ -389743,7 +406170,9 @@ OMIM:176266 a owl:Class ; "potassium channel, voltage-gated, shaker-related subfamily, member 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3739 ; - skos:exactMatch HGNC_symbol:KCNA4 ; + skos:exactMatch UMLS:C1416547, + HGNC:6222, + HGNC_symbol:KCNA4 ; biolink:category biolink:Gene . OMIM:176310 a owl:Class ; @@ -389768,20 +406197,21 @@ OMIM:176310 a owl:Class ; PMID:9482739 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:617641 ; - oboInOwl:hasDbXref UMLS:C1418285, - UMLS:C1418287, - UMLS:C4539968, - UMLS:C4540544, - UMLS:C4693971, - UMLS:C4693972, - UMLS:C4693973 ; oboInOwl:hasExactSynonym "PBX1", "pbx1/e2a fusion gene", "pre-b-cell leukemia transcription factor 1", "pre-b-cell leukemia transcription factor pseudogene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5087 ; - skos:exactMatch HGNC_symbol:PBX1 ; + skos:exactMatch UMLS:C1418285, + UMLS:C1418287, + UMLS:C4539968, + UMLS:C4540544, + UMLS:C4693971, + UMLS:C4693972, + UMLS:C4693973, + HGNC:8632, + HGNC_symbol:PBX1 ; biolink:category biolink:Gene . OMIM:176410 a owl:Class ; @@ -389799,12 +406229,12 @@ OMIM:176410 a owl:Class ; PMID:7692306, PMID:8194554, PMID:9703386 ; - oboInOwl:hasDbXref UMLS:C0342549, - UMLS:C2674612 ; oboInOwl:hasExactSynonym "leydig cell adenoma, somatic, with male-limited precocious puberty", "precocious puberty, male-limited", "sexual precocity, familial, gonadotropin-independent", "testotoxicosis, familial" ; + skos:exactMatch UMLS:C0342549, + UMLS:C2674612 ; biolink:category biolink:Disease . OMIM:176430 a owl:Class ; @@ -389822,10 +406252,10 @@ OMIM:176430 a owl:Class ; PMID:6654324, PMID:8225320, PMID:9677059 ; - oboInOwl:hasDbXref UMLS:C1864389 ; oboInOwl:hasExactSynonym "PCS", "premature chromatid separation trait", "total premature chromatid separation trait" ; + skos:exactMatch UMLS:C1864389 ; biolink:category biolink:Disease . OMIM:176450 a owl:Class ; @@ -389848,14 +406278,14 @@ OMIM:176450 a owl:Class ; PMID:8076416, PMID:9008829, PMID:9843207 ; - oboInOwl:hasDbXref UMLS:C1531773, - UMLS:C1867774, - UMLS:C1867775 ; oboInOwl:hasExactSynonym "currarino syndrome", "currarino triad", "sacral agenesis syndrome", "sacral agenesis, hereditary, with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation", "scra1" ; + skos:exactMatch UMLS:C1531773, + UMLS:C1867774, + UMLS:C1867775 ; biolink:category biolink:Disease . OMIM:176636 a owl:Class ; @@ -389863,14 +406293,15 @@ OMIM:176636 a owl:Class ; IAO:0000142 PMID:11939784, PMID:8026492, PMID:8530050 ; - oboInOwl:hasDbXref UMLS:C1418894 ; oboInOwl:hasExactSynonym "PRIM2A", "prim2", "primase polypeptide 2a", "primase, p58 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5558 ; - skos:exactMatch HGNC_symbol:PRIM2 ; + skos:exactMatch UMLS:C1418894, + HGNC:9370, + HGNC_symbol:PRIM2 ; biolink:category biolink:Gene . OMIM:176730 a owl:Class ; @@ -389969,11 +406400,6 @@ OMIM:176730 a owl:Class ; PMID:9884331 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:613370 ; - oboInOwl:hasDbXref UMLS:C0342283, - UMLS:C1337112, - UMLS:C1852092, - UMLS:C3150617, - UMLS:C5394307 ; oboInOwl:hasExactSynonym "INS", "ins-igf2 spliced read-through transcripts", "insigf", @@ -389981,16 +406407,22 @@ OMIM:176730 a owl:Class ; "proinsulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3630 ; - skos:exactMatch HGNC_symbol:INS ; + skos:exactMatch UMLS:C0342283, + UMLS:C1337112, + UMLS:C1852092, + UMLS:C3150617, + UMLS:C5394307, + HGNC:6081, + HGNC_symbol:INS ; biolink:category biolink:Gene . OMIM:176770 a owl:Class ; rdfs:label "proline-negative auxotroph of hamster, complementation of" ; IAO:0000142 PMID:1235910, PMID:6209809 ; - oboInOwl:hasDbXref UMLS:C1867728 ; oboInOwl:hasExactSynonym "PROA", - "proline-negative auxotroph of hamster, complementation of" . + "proline-negative auxotroph of hamster, complementation of" ; + skos:exactMatch UMLS:C1867728 . OMIM:176780 a owl:Class ; rdfs:label "pelvic organ prolapse, susceptibility to" ; @@ -390000,29 +406432,30 @@ OMIM:176780 a owl:Class ; PMID:18274672, PMID:9921553 ; RO:0002525 CHR:9606chr1q31 ; - oboInOwl:hasDbXref UMLS:C0034888, - UMLS:C0205990, - UMLS:C1868686, - UMLS:C2752090 ; oboInOwl:hasExactSynonym "pelvic organ prolapse, susceptibility to", "pelvic organ prolapse, susceptibility to, 1", "prolapse of vagina and rectum", "rectal prolapse", "vaginal prolapse" ; + skos:exactMatch UMLS:C0034888, + UMLS:C0205990, + UMLS:C1868686, + UMLS:C2752090 ; biolink:category biolink:Disease . OMIM:176846 a owl:Class ; rdfs:label "PSMA4" ; IAO:0000142 PMID:18385676, PMID:2025653 ; - oboInOwl:hasDbXref UMLS:C1419006 ; oboInOwl:hasExactSynonym "PSMA4", "hc9", "proteasome component 9", "proteasome subunit, alpha-type, 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5685 ; - skos:exactMatch HGNC_symbol:PSMA4 ; + skos:exactMatch UMLS:C1419006, + HGNC:9533, + HGNC_symbol:PSMA4 ; biolink:category biolink:Gene . OMIM:176880 a owl:Class ; @@ -390060,8 +406493,6 @@ OMIM:176880 a owl:Class ; PMID:9657428 ; RO:0002525 CHR:9606chr3q11.1 ; RO:0003303 OMIM:614514 ; - oboInOwl:hasDbXref UMLS:C1418948, - UMLS:C1867626 ; oboInOwl:hasExactSynonym "PROS1", "pros2", "protein s", @@ -390070,7 +406501,10 @@ OMIM:176880 a owl:Class ; "protein s, beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5627 ; - skos:exactMatch HGNC_symbol:PROS1 ; + skos:exactMatch UMLS:C1418948, + UMLS:C1867626, + HGNC:9456, + HGNC_symbol:PROS1 ; biolink:category biolink:Gene . OMIM:176920 a owl:Class ; @@ -390125,11 +406559,11 @@ OMIM:176920 a owl:Class ; PMID:9132186, PMID:9781913, PMID:993918 ; - oboInOwl:hasDbXref UMLS:C0085261, - UMLS:C1867610 ; oboInOwl:hasExactSynonym "elattoproteus syndrome", "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly", "proteus syndrome" ; + skos:exactMatch UMLS:C0085261, + UMLS:C1867610 ; biolink:category biolink:Disease . OMIM:176943 a owl:Class ; @@ -390250,8 +406684,6 @@ OMIM:176943 a owl:Class ; PMID:9973282 ; RO:0002525 CHR:9606chr10q26.13 ; RO:0003303 OMIM:609579 ; - oboInOwl:hasDbXref UMLS:C0209706, - UMLS:C1333542 ; oboInOwl:hasExactSynonym "FGFR2", "bek, mouse, homolog of", "fgf receptor", @@ -390261,7 +406693,10 @@ OMIM:176943 a owl:Class ; "protein tyrosine kinase, receptor-like, 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2263 ; - skos:exactMatch HGNC_symbol:FGFR2 ; + skos:exactMatch UMLS:C0209706, + UMLS:C1333542, + HGNC:3689, + HGNC_symbol:FGFR2 ; biolink:category biolink:Gene . OMIM:177000 a owl:Class ; @@ -390314,8 +406749,6 @@ OMIM:177000 a owl:Class ; PMID:911406, PMID:9585598, PMID:9649563 ; - oboInOwl:hasDbXref UMLS:C0162568, - UMLS:C4692546 ; oboInOwl:hasExactSynonym "EPP1", "erythrohepatic protoporphyria", "ferrochelatase deficiency", @@ -390323,6 +406756,8 @@ OMIM:177000 a owl:Class ; "protoporphyria, erythropoietic", "protoporphyria, erythropoietic, 1" ; rdfs:subClassOf OMIMPS:177000 ; + skos:exactMatch UMLS:C0162568, + UMLS:C4692546 ; biolink:category biolink:Disease . OMIM:177040 a owl:Class ; @@ -390335,7 +406770,6 @@ OMIM:177040 a owl:Class ; PMID:3214420, PMID:3366780, PMID:3402609 ; - oboInOwl:hasDbXref UMLS:C1418888 ; oboInOwl:hasExactSynonym "SRGN", "platelet proteoglycan protein core", "proteoglycan 1", @@ -390343,7 +406777,9 @@ OMIM:177040 a owl:Class ; "serglycin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5552 ; - skos:exactMatch HGNC_symbol:SRGN ; + skos:exactMatch UMLS:C1418888, + HGNC:9361, + HGNC_symbol:SRGN ; biolink:category biolink:Gene . OMIM:177060 a owl:Class ; @@ -390358,7 +406794,6 @@ OMIM:177060 a owl:Class ; PMID:8910335 ; RO:0002525 CHR:9606chr19p13.2 ; RO:0003303 OMIM:174050 ; - oboInOwl:hasDbXref UMLS:C1418927 ; oboInOwl:hasExactSynonym "PRKCSH", "g19p1", "glucosidase ii, beta subunit", @@ -390366,7 +406801,9 @@ OMIM:177060 a owl:Class ; "protein kinase c substrate, 80-kd, heavy chain" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5589 ; - skos:exactMatch HGNC_symbol:PRKCSH ; + skos:exactMatch UMLS:C1418927, + HGNC:9411, + HGNC_symbol:PRKCSH ; biolink:category biolink:Gene . OMIM:177400 a owl:Class ; @@ -390442,14 +406879,15 @@ OMIM:177400 a owl:Class ; PMID:9543549 ; RO:0002525 CHR:9606chr3q26.1 ; RO:0003303 OMIM:617936 ; - oboInOwl:hasDbXref UMLS:C1412756 ; oboInOwl:hasExactSynonym "BCHE", "acylcholine acylhydrolase", "butyrylcholinesterase", "pseudocholinesterase e1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:590 ; - skos:exactMatch HGNC_symbol:BCHE ; + skos:exactMatch UMLS:C1412756, + HGNC:983, + HGNC_symbol:BCHE ; biolink:category biolink:Gene . OMIM:177650 a owl:Class ; @@ -390481,13 +406919,13 @@ OMIM:177650 a owl:Class ; PMID:5075128, PMID:7369310, PMID:889760 ; - oboInOwl:hasDbXref UMLS:C0206368 ; oboInOwl:hasExactSynonym "XFS", "exfoliation glaucoma", "exfoliation syndrome", "pseudoexfoliation glaucoma", "pseudoexfoliation of the lens", "pseudoexfoliation syndrome" ; + skos:exactMatch UMLS:C0206368 ; biolink:category biolink:Disease . OMIM:177700 a owl:Class ; @@ -390499,9 +406937,9 @@ OMIM:177700 a owl:Class ; PMID:25284765, PMID:2774031 ; RO:0002525 CHR:9606chr12q14 ; - oboInOwl:hasDbXref UMLS:C3888338 ; oboInOwl:hasExactSynonym "GLC1P", "glaucoma 1, open angle, p" ; + skos:exactMatch UMLS:C3888338 ; biolink:category biolink:Disease . OMIM:177735 a owl:Class ; @@ -390517,10 +406955,10 @@ OMIM:177735 a owl:Class ; PMID:2932642, PMID:78119, PMID:9662404 ; - oboInOwl:hasDbXref UMLS:C1449842 ; oboInOwl:hasExactSynonym "PHA1A", "pha i, autosomal dominant", "pseudohypoaldosteronism, iia i, autosomal dominant" ; + skos:exactMatch UMLS:C1449842 ; biolink:category biolink:Disease . OMIM:177850 a owl:Class ; @@ -390538,10 +406976,10 @@ OMIM:177850 a owl:Class ; PMID:8277008, PMID:9267806, PMID:9302259 ; - oboInOwl:hasDbXref UMLS:C1867450, - UMLS:C1867451 ; oboInOwl:hasExactSynonym "pseudoxanthoma elasticum, forme fruste", "pseudoxanthoma elasticum, heterozygous" ; + skos:exactMatch UMLS:C1867450, + UMLS:C1867451 ; biolink:category biolink:Disease . OMIM:177900 a owl:Class ; @@ -390630,10 +407068,10 @@ OMIM:177900 a owl:Class ; PMID:9694251, PMID:9858851, PMID:9886274 ; - oboInOwl:hasDbXref UMLS:C1867449 ; oboInOwl:hasExactSynonym "PSORS1", "psoriasis 1, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C1867449 ; biolink:category biolink:Disease . OMIM:179300 a owl:Class ; @@ -390647,10 +407085,10 @@ OMIM:179300 a owl:Class ; PMID:7604847, PMID:8330452, PMID:9028445 ; - oboInOwl:hasDbXref UMLS:C5241445, - ORPHA:3269 ; oboInOwl:hasExactSynonym "RUS", "radioulnar synostosis, nonsyndromic, susceptibility to" ; + skos:exactMatch UMLS:C5241445, + ORPHA:3269 ; biolink:category biolink:Disease . OMIM:179450 a owl:Class ; @@ -390663,8 +407101,8 @@ OMIM:179450 a owl:Class ; PMID:4833283, PMID:752497 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C1867394 ; - oboInOwl:hasExactSynonym "ragweed sensitivity" . + oboInOwl:hasExactSynonym "ragweed sensitivity" ; + skos:exactMatch UMLS:C1867394 . OMIM:179620 a owl:Class ; rdfs:label "raph blood group system" ; @@ -390672,9 +407110,9 @@ OMIM:179620 a owl:Class ; PMID:3238950, PMID:3412548, PMID:3604155 ; - oboInOwl:hasDbXref UMLS:C1867341 ; oboInOwl:hasExactSynonym "mer2 blood cell antigen expression", "raph blood group system" ; + skos:exactMatch UMLS:C1867341 ; biolink:category biolink:Disease . OMIM:180020 a owl:Class ; @@ -390687,11 +407125,11 @@ OMIM:180020 a owl:Class ; PMID:4573331, PMID:5660021 ; RO:0002525 CHR:9606chr6q25-q26 ; - oboInOwl:hasDbXref UMLS:C1867326 ; oboInOwl:hasExactSynonym "RCD1", "cone dystrophy, autosomal dominant", "retinal cone degeneration", "retinal cone dystrophy 1" ; + skos:exactMatch UMLS:C1867326 ; biolink:category biolink:Disease . OMIM:180100 a owl:Class ; @@ -390714,10 +407152,10 @@ OMIM:180100 a owl:Class ; PMID:7120314, PMID:879170, PMID:8931712 ; - oboInOwl:hasDbXref UMLS:C0220701 ; oboInOwl:hasExactSynonym "RP1", "retinitis pigmentosa 1" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C0220701 ; biolink:category biolink:Disease . OMIM:180104 a owl:Class ; @@ -390733,10 +407171,10 @@ OMIM:180104 a owl:Class ; PMID:8513323, PMID:8513324, PMID:9039989 ; - oboInOwl:hasDbXref UMLS:C1867300 ; oboInOwl:hasExactSynonym "RP9", "retinitis pigmentosa 9" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1867300 ; biolink:category biolink:Disease . OMIM:180105 a owl:Class ; @@ -390750,18 +407188,18 @@ OMIM:180105 a owl:Class ; PMID:8513323, PMID:8513324, PMID:8723719 ; - oboInOwl:hasDbXref UMLS:C1867299 ; oboInOwl:hasExactSynonym "RP10", "retinitis pigmentosa 10" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1867299 ; biolink:category biolink:Disease . OMIM:180295 a owl:Class ; rdfs:label "rhabdomyosarcoma, embryonal, 2" ; IAO:0000142 PMID:21882293 ; - oboInOwl:hasDbXref UMLS:C1867234 ; oboInOwl:hasExactSynonym "RMSE2", "rhabdomyosarcoma, embryonal, 2" ; + skos:exactMatch UMLS:C1867234 ; biolink:category biolink:Disease . OMIM:180380 a owl:Class ; @@ -390860,13 +407298,14 @@ OMIM:180380 a owl:Class ; PMID:9892703 ; RO:0002525 CHR:9606chr3q22.1 ; RO:0003303 OMIM:136880 ; - oboInOwl:hasDbXref UMLS:C1419385 ; oboInOwl:hasExactSynonym "RHO", "opsin 2", "rhodopsin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6010 ; - skos:exactMatch HGNC_symbol:RHO ; + skos:exactMatch UMLS:C1419385, + HGNC:10012, + HGNC_symbol:RHO ; biolink:category biolink:Gene . OMIM:180385 a owl:Class ; @@ -390894,7 +407333,6 @@ OMIM:180385 a owl:Class ; PMID:9129143, PMID:9520463 ; RO:0002525 CHR:9606chr11p13 ; - oboInOwl:hasDbXref UMLS:C0380093 ; oboInOwl:hasExactSynonym "LMO2", "lim domain only 2", "rhombotin 2", @@ -390902,24 +407340,25 @@ OMIM:180385 a owl:Class ; "t-cell translocation gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4005 ; - skos:exactMatch HGNC_symbol:LMO2 ; + skos:exactMatch UMLS:C0380093, + HGNC:6642, + HGNC_symbol:LMO2 ; biolink:category biolink:Gene . OMIM:180550 a owl:Class ; rdfs:label "ring dermoid of cornea" ; IAO:0000142 PMID:15591271, PMID:7387508 ; - oboInOwl:hasDbXref UMLS:C1867155, - ORPHA:91481 ; oboInOwl:hasExactSynonym "RDC", "ring dermoid of cornea" ; + skos:exactMatch UMLS:C1867155, + ORPHA:91481 ; biolink:category biolink:Disease . OMIM:180621 a owl:Class ; rdfs:label "TRX-CAT1-2" ; IAO:0000142 PMID:6308668, PMID:8661117 ; - oboInOwl:hasDbXref UMLS:C1421157 ; oboInOwl:hasExactSynonym "TRX-CAT1-2", "rna, initiator methionine transfer, 1", "transfer RNA methionine 1", @@ -390929,7 +407368,9 @@ OMIM:180621 a owl:Class ; "trna-imet (anticodon cat) 1-2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7210 ; - skos:exactMatch HGNC_symbol:TRX-CAT1-2 ; + skos:exactMatch UMLS:C1421157, + HGNC:12318, + HGNC_symbol:TRX-CAT1-2 ; biolink:category biolink:Gene . OMIM:180680 a owl:Class ; @@ -390946,14 +407387,15 @@ OMIM:180680 a owl:Class ; PMID:6201719, PMID:6202011, PMID:6225117 ; - oboInOwl:hasDbXref UMLS:C1419475 ; oboInOwl:hasExactSynonym "RNU1A", "rna, u1 small nuclear", "rna, u1a small nuclear", "snrna, u1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6060 ; - skos:exactMatch HGNC_symbol:RNU1-4 ; + skos:exactMatch UMLS:C1419475, + HGNC:10128, + HGNC_symbol:RNU1-4 ; biolink:category biolink:Gene . OMIM:180700 a owl:Class ; @@ -390981,13 +407423,13 @@ OMIM:180700 a owl:Class ; PMID:7091086, PMID:7149891, PMID:8723569 ; - oboInOwl:hasDbXref UMLS:C4551475 ; oboInOwl:hasExactSynonym "DRS1", "acral dysostosis with facial and genital abnormalities", "fetal face syndrome", "robinow dwarfism", "robinow syndrome, autosomal dominant 1" ; rdfs:subClassOf OMIMPS:268310 ; + skos:exactMatch UMLS:C4551475 ; biolink:category biolink:Disease . OMIM:180860 a owl:Class ; @@ -391038,14 +407480,14 @@ OMIM:180860 a owl:Class ; PMID:9032641, PMID:9359045, PMID:9733042 ; - oboInOwl:hasDbXref UMLS:C0175693, - UMLS:C5393125, - ORPHA:813 ; oboInOwl:hasExactSynonym "SRS1", "russell-silver syndrome", "silver-russell dwarfism", "silver-russell syndrome 1" ; rdfs:subClassOf OMIMPS:180860 ; + skos:exactMatch UMLS:C0175693, + UMLS:C5393125, + ORPHA:813 ; biolink:category biolink:Disease . OMIM:181000 a owl:Class ; @@ -391066,11 +407508,11 @@ OMIM:181000 a owl:Class ; PMID:5558992, PMID:5558993, PMID:6134089 ; - oboInOwl:hasDbXref UMLS:C2697310 ; oboInOwl:hasExactSynonym "SS1", "boeck sarcoid", "sarcoidosis", "sarcoidosis, susceptibility to, 1" ; + skos:exactMatch UMLS:C2697310 ; biolink:category biolink:Disease . OMIM:181270 a owl:Class ; @@ -391085,11 +407527,11 @@ OMIM:181270 a owl:Class ; PMID:708615, PMID:8042668, PMID:9383029 ; - oboInOwl:hasDbXref UMLS:C1867020 ; oboInOwl:hasExactSynonym "SENS", "finlay-marks syndrome", "scalp-ear-nipple syndrome", "sen syndrome" ; + skos:exactMatch UMLS:C1867020 ; biolink:category biolink:Disease . OMIM:181400 a owl:Class ; @@ -391103,12 +407545,12 @@ OMIM:181400 a owl:Class ; PMID:7487558, PMID:8343020, PMID:949863 ; - oboInOwl:hasDbXref UMLS:C1867005 ; oboInOwl:hasExactSynonym "SCPNK", "kaeser syndrome", "scapuloperoneal syndrome, neurogenic type, of kaeser", "scapuloperoneal syndrome, neurogenic, kaeser iia", "stark-kaeser syndrome" ; + skos:exactMatch UMLS:C1867005 ; biolink:category biolink:Disease . OMIM:181430 a owl:Class ; @@ -391119,11 +407561,11 @@ OMIM:181430 a owl:Class ; PMID:4311337, PMID:5696602, PMID:7487558 ; - oboInOwl:hasDbXref UMLS:C4759774 ; oboInOwl:hasExactSynonym "SPMM", "scapuloperoneal muscular dystrophy", "scapuloperoneal myopathy, myh7-related", "scapuloperoneal syndrome, myopathic iia" ; + skos:exactMatch UMLS:C4759774 ; biolink:category biolink:Disease . OMIM:181450 a owl:Class ; @@ -391143,11 +407585,11 @@ OMIM:181450 a owl:Class ; PMID:8923944, PMID:9207801, PMID:991870 ; - oboInOwl:hasDbXref UMLS:C1866994 ; oboInOwl:hasExactSynonym "Schinzel syndrome", "UMS", "pallister ulnar-mammary syndrome", "ulnar-mammary syndrome" ; + skos:exactMatch UMLS:C1866994 ; biolink:category biolink:Disease . OMIM:181460 a owl:Class ; @@ -391161,9 +407603,9 @@ OMIM:181460 a owl:Class ; PMID:9311752, PMID:9698772 ; RO:0002525 CHR:9606chr5q31-q33 ; - oboInOwl:hasDbXref UMLS:C1866993 ; oboInOwl:hasExactSynonym "schistosoma mansoni infection, susceptibility/resistance to", "schistosoma mansoni, intensity of infection by" ; + skos:exactMatch UMLS:C1866993 ; biolink:category biolink:Disease . OMIM:181510 a owl:Class ; @@ -391189,11 +407631,11 @@ OMIM:181510 a owl:Class ; PMID:9342193 ; RO:0002525 CHR:9606chr5q23-q35 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C0220702 ; oboInOwl:hasExactSynonym "SCZD1", "schizophrenia 1", "schizophrenia 1 with or without an affective disorder", "schizophrenia susceptibility locus, chromosome 5-related" ; + skos:exactMatch UMLS:C0220702 ; biolink:category biolink:Disease . OMIM:181600 a owl:Class ; @@ -391208,11 +407650,11 @@ OMIM:181600 a owl:Class ; PMID:8546996, PMID:8731679, PMID:9274637 ; - oboInOwl:hasDbXref UMLS:C0406767 ; oboInOwl:hasExactSynonym "HRZ", "huriez syndrome", "scleroatrophic and keratotic dermatosis of limbs", "sclerotylosis" ; + skos:exactMatch UMLS:C0406767 ; biolink:category biolink:Disease . OMIM:181800 a owl:Class ; @@ -391233,11 +407675,11 @@ OMIM:181800 a owl:Class ; PMID:78312, PMID:9546446 ; RO:0002525 CHR:9606chr19p13.3 ; - oboInOwl:hasDbXref UMLS:C2700406 ; oboInOwl:hasExactSynonym "IS1", "adolescent idiopathic scoliosis", "adolescent isolated scoliosis", "scoliosis, isolated, susceptibility to, 1" ; + skos:exactMatch UMLS:C2700406 ; biolink:category biolink:Disease . OMIM:182205 a owl:Class ; @@ -391261,14 +407703,15 @@ OMIM:182205 a owl:Class ; PMID:6681689, PMID:7714097, PMID:930924 ; - oboInOwl:hasDbXref UMLS:C1366439 ; oboInOwl:hasExactSynonym "SHBG", "androgen-binding protein", "sex hormone-binding globulin", "testosterone-binding beta-globulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6462 ; - skos:exactMatch HGNC_symbol:SHBG ; + skos:exactMatch UMLS:C1366439, + HGNC:10839, + HGNC_symbol:SHBG ; biolink:category biolink:Gene . OMIM:182212 a owl:Class ; @@ -391289,12 +407732,12 @@ OMIM:182212 a owl:Class ; PMID:9182791, PMID:9508238, PMID:9605294 ; - oboInOwl:hasDbXref UMLS:C1321551 ; oboInOwl:hasExactSynonym "SGS", "craniosynostosis with arachnodactyly and abdominal hernias", "marfanoid craniosynostosis syndrome", "marfanoid disorder with craniosynostosis, iia 1", "shprintzen-goldberg craniosynostosis syndrome" ; + skos:exactMatch UMLS:C1321551 ; biolink:category biolink:Disease . OMIM:182230 a owl:Class ; @@ -391323,13 +407766,13 @@ OMIM:182230 a owl:Class ; PMID:8696006, PMID:9006427, PMID:9620767 ; - oboInOwl:hasDbXref UMLS:C0338503, - UMLS:C2750027 ; oboInOwl:hasExactSynonym "growth hormone deficiency with pituitary anomalies", "lange morsier syndrome", "pituitary hormone deficiency, combined, 5", "septooptic dysplasia" ; rdfs:subClassOf OMIMPS:613038 ; + skos:exactMatch UMLS:C0338503, + UMLS:C2750027 ; biolink:category biolink:Disease . OMIM:182250 a owl:Class ; @@ -391339,20 +407782,21 @@ OMIM:182250 a owl:Class ; PMID:23322711, PMID:25620204, PMID:4272099 ; - oboInOwl:hasDbXref UMLS:C4225427 ; oboInOwl:hasExactSynonym "SGMRT1", "singleton-merten syndrome 1" ; rdfs:subClassOf OMIMPS:182250 ; + skos:exactMatch UMLS:C4225427 ; biolink:category biolink:Disease . OMIM:182269 a owl:Class ; rdfs:label "small proline-rich protein 2c, pseudogene" ; IAO:0000142 PMID:11279051, PMID:8325635 ; - oboInOwl:hasDbXref UMLS:C1420376 ; oboInOwl:hasExactSynonym "SPRR2C", "small proline-rich protein 2c, pseudogene" ; - skos:exactMatch HGNC_symbol:SPRR2C . + skos:exactMatch UMLS:C1420376, + HGNC:11263, + HGNC_symbol:SPRR2C . OMIM:182284 a owl:Class ; rdfs:label "CCL4" ; @@ -391366,7 +407810,6 @@ OMIM:182284 a owl:Class ; PMID:1972563, PMID:2462251, PMID:8525373 ; - oboInOwl:hasDbXref UMLS:C1337091 ; oboInOwl:hasExactSynonym "CCL4", "at744.1", "chemokine, cc motif, ligand 4", @@ -391376,7 +407819,9 @@ OMIM:182284 a owl:Class ; "small inducible cytokine a4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6351 ; - skos:exactMatch HGNC_symbol:CCL4 ; + skos:exactMatch UMLS:C1337091, + HGNC:10630, + HGNC_symbol:CCL4 ; biolink:category biolink:Gene . OMIM:182290 a owl:Class ; @@ -391424,12 +407869,12 @@ OMIM:182290 a owl:Class ; PMID:9326934, PMID:9557889, PMID:9820031 ; - oboInOwl:hasDbXref UMLS:C0795864, - UMLS:C1866927 ; oboInOwl:hasExactSynonym "SMS", "chromosome 17p11.2 deletion syndrome", "smith-magenis syndrome", "smith-magenis syndrome chromosome region" ; + skos:exactMatch UMLS:C0795864, + UMLS:C1866927 ; biolink:category biolink:Disease . OMIM:182330 a owl:Class ; @@ -391447,13 +407892,14 @@ OMIM:182330 a owl:Class ; PMID:3008098 ; RO:0002525 CHR:9606chr1q24.2 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1412631 ; oboInOwl:hasExactSynonym "ATP1B1", "atpase, na+/k+ transporting, beta-1 polypeptide", "na,k-atpase beta-1 polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:481 ; - skos:exactMatch HGNC_symbol:ATP1B1 ; + skos:exactMatch UMLS:C1412631, + HGNC:804, + HGNC_symbol:ATP1B1 ; biolink:category biolink:Gene . OMIM:182390 a owl:Class ; @@ -391495,10 +407941,6 @@ OMIM:182390 a owl:Class ; PMID:8750864 ; RO:0002525 CHR:9606chr2q24.3 ; RO:0003303 OMIM:607745 ; - oboInOwl:hasDbXref UMLS:C1419858, - UMLS:C1843140, - UMLS:C3150987, - UMLS:C5394520 ; oboInOwl:hasExactSynonym "SCN2A", "nav1.2", "sodium channel, brain iia ii, alpha subunit", @@ -391507,7 +407949,12 @@ OMIM:182390 a owl:Class ; "sodium voltage-gated channel, alpha subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6326 ; - skos:exactMatch HGNC_symbol:SCN2A ; + skos:exactMatch UMLS:C1419858, + UMLS:C1843140, + UMLS:C3150987, + UMLS:C5394520, + HGNC:10588, + HGNC_symbol:SCN2A ; biolink:category biolink:Gene . OMIM:182455 a owl:Class ; @@ -391526,13 +407973,14 @@ OMIM:182455 a owl:Class ; PMID:8954784, PMID:9226367, PMID:9695740 ; - oboInOwl:hasDbXref UMLS:C1335870, - UMLS:C5436944 ; oboInOwl:hasExactSynonym "SSTR5", "somatostatin receptor 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6755 ; - skos:exactMatch HGNC_symbol:SSTR5 ; + skos:exactMatch UMLS:C1335870, + UMLS:C5436944, + HGNC:11334, + HGNC_symbol:SSTR5 ; biolink:category biolink:Gene . OMIM:182600 a owl:Class ; @@ -391579,14 +408027,14 @@ OMIM:182600 a owl:Class ; PMID:9042923, PMID:9266155, PMID:9341882 ; - oboInOwl:hasDbXref UMLS:C2931355, - ORPHA:100984 ; oboInOwl:hasExactSynonym "SPG3A", "familial spastic paraplegia, autosomal dominant, 1", "spastic paraplegia 3, autosomal dominant", "spg3", "strumpell disease" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2931355, + ORPHA:100984 ; biolink:category biolink:Disease . OMIM:182601 a owl:Class ; @@ -391629,11 +408077,11 @@ OMIM:182601 a owl:Class ; PMID:9618065, PMID:9736780, PMID:9781032 ; - oboInOwl:hasDbXref UMLS:C1866855 ; oboInOwl:hasExactSynonym "SPG4", "familial spastic paraplegia, autosomal dominant, 2", "spastic paraplegia 4, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1866855 ; biolink:category biolink:Disease . OMIM:182860 a owl:Class ; @@ -391712,17 +408160,18 @@ OMIM:182860 a owl:Class ; PMID:9887280 ; RO:0002525 CHR:9606chr1q23.1 ; RO:0003303 OMIM:270970 ; - oboInOwl:hasDbXref UMLS:C0520739, - UMLS:C1420385, - UMLS:C1851741, - UMLS:C4016379, - UMLS:C4310960, - UMLS:C4310961 ; oboInOwl:hasExactSynonym "SPTA1", "spectrin, alpha, erythrocytic 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6708 ; - skos:exactMatch HGNC_symbol:SPTA1 ; + skos:exactMatch UMLS:C0520739, + UMLS:C1420385, + UMLS:C1851741, + UMLS:C4016379, + UMLS:C4310960, + UMLS:C4310961, + HGNC:11272, + HGNC_symbol:SPTA1 ; biolink:category biolink:Gene . OMIM:182889 a owl:Class ; @@ -391739,7 +408188,6 @@ OMIM:182889 a owl:Class ; PMID:8467708 ; RO:0002525 CHR:9606chr7q11.23 ; RO:0003303 OMIM:617712 ; - oboInOwl:hasDbXref UMLS:C1421866 ; oboInOwl:hasExactSynonym "ZP3", "sperm receptor", "zona pellucida glycoprotein 3", @@ -391747,7 +408195,9 @@ OMIM:182889 a owl:Class ; "zona pellucida glycoprotein 3b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7784 ; - skos:exactMatch HGNC_symbol:ZP3 ; + skos:exactMatch UMLS:C1421866, + HGNC:13189, + HGNC_symbol:ZP3 ; biolink:category biolink:Gene . OMIM:182900 a owl:Class ; @@ -391815,11 +408265,11 @@ OMIM:182900 a owl:Class ; PMID:919417, PMID:9430667, PMID:9887280 ; - oboInOwl:hasDbXref UMLS:C2674218 ; oboInOwl:hasExactSynonym "SPH1", "sph", "spherocytosis, iia 1", "spherocytosis, hereditary, 1" ; + skos:exactMatch UMLS:C2674218 ; biolink:category biolink:Disease . OMIM:182920 a owl:Class ; @@ -391827,10 +408277,10 @@ OMIM:182920 a owl:Class ; IAO:0000142 PMID:16380616, PMID:571956, PMID:9270668 ; - oboInOwl:hasDbXref UMLS:C1866785, - ORPHA:268129 ; oboInOwl:hasExactSynonym "myopathy, spheroid body" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C1866785, + ORPHA:268129 ; biolink:category biolink:Disease . OMIM:182960 a owl:Class ; @@ -391842,14 +408292,14 @@ OMIM:182960 a owl:Class ; PMID:7365507, PMID:752065 ; RO:0002525 CHR:9606chr7q34-q36 ; - oboInOwl:hasDbXref UMLS:C1866784, - ORPHA:139518 ; oboInOwl:hasExactSynonym "HMN1", "charcot-marie-tooth disease, spinal, 1", "hmn 1", "neuronopathy, distal hereditary motor, iia 1", "neuropathy, distal hereditary motor, iia 1", "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1" ; + skos:exactMatch UMLS:C1866784, + ORPHA:139518 ; biolink:category biolink:Disease . OMIM:182980 a owl:Class ; @@ -391864,11 +408314,11 @@ OMIM:182980 a owl:Class ; PMID:5726730, PMID:712386, PMID:7258225 ; - oboInOwl:hasDbXref UMLS:C1854058 ; oboInOwl:hasExactSynonym "SMAFK", "finkel late-adult iia sma", "spinal muscular atrophy, late-onset, finkel iia", "spinal muscular atrophy, proximal, adult, autosomal dominant" ; + skos:exactMatch UMLS:C1854058 ; biolink:category biolink:Disease . OMIM:183086 a owl:Class ; @@ -391915,10 +408365,10 @@ OMIM:183086 a owl:Class ; PMID:9779665, PMID:9804117, PMID:990897 ; - oboInOwl:hasDbXref UMLS:C0752124 ; oboInOwl:hasExactSynonym "SCA6", "spinocerebellar ataxia 6" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C0752124 ; biolink:category biolink:Disease . OMIM:183090 a owl:Class ; @@ -391992,8 +408442,6 @@ OMIM:183090 a owl:Class ; PMID:9779806, PMID:9874485, PMID:9875622 ; - oboInOwl:hasDbXref UMLS:C0752121, - UMLS:C3149907 ; oboInOwl:hasExactSynonym "SCA2", "amyotrophic lateral sclerosis, susceptibility to, 13", "cerebellar degeneration with slow eye movements", @@ -392006,6 +408454,8 @@ OMIM:183090 a owl:Class ; "wadia-swami syndrome" ; rdfs:subClassOf OMIMPS:105400, OMIMPS:164400 ; + skos:exactMatch UMLS:C0752121, + UMLS:C3149907 ; biolink:category biolink:Disease . OMIM:183600 a owl:Class ; @@ -392056,8 +408506,6 @@ OMIM:183600 a owl:Class ; PMID:8666395, PMID:891014, PMID:9733575 ; - oboInOwl:hasDbXref UMLS:C2931019, - ORPHA:2440 ; oboInOwl:hasExactSynonym "SHFM1", "ectrodactyly", "split-hand deformity", @@ -392065,16 +408513,18 @@ OMIM:183600 a owl:Class ; "split-hand/foot malformation 1", "split-hand/foot malformation 1 with or without deafness" ; rdfs:subClassOf OMIMPS:183600 ; + skos:exactMatch UMLS:C2931019, + ORPHA:2440 ; biolink:category biolink:Disease . OMIM:183840 a owl:Class ; rdfs:label "spondyloarthropathy, susceptibility to, 2" ; IAO:0000142 PMID:15234954 ; RO:0002525 CHR:9606chr9q31-q34 ; - oboInOwl:hasDbXref UMLS:C1866738 ; oboInOwl:hasExactSynonym "SPDA2", "spondyloarthropathy, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:106300 ; + skos:exactMatch UMLS:C1866738 ; biolink:category biolink:Disease . OMIM:184100 a owl:Class ; @@ -392085,8 +408535,8 @@ OMIM:184100 a owl:Class ; PMID:5801124, PMID:6424589 ; RO:0002525 CHR:9606chr12q13 ; - oboInOwl:hasDbXref UMLS:C1866717 ; oboInOwl:hasExactSynonym "spondyloepiphyseal dysplasia tarda, autosomal dominant" ; + skos:exactMatch UMLS:C1866717 ; biolink:category biolink:Disease . OMIM:184255 a owl:Class ; @@ -392097,11 +408547,11 @@ OMIM:184255 a owl:Class ; PMID:2343127, PMID:29100092, PMID:4419008 ; - oboInOwl:hasDbXref UMLS:C0432221 ; oboInOwl:hasExactSynonym "SMDCF", "spondylometaphyseal dysplasia, corner fracture iia", "spondylometaphyseal dysplasia, sutcliffe iia" ; rdfs:subClassOf OMIMPS:184255 ; + skos:exactMatch UMLS:C0432221 ; biolink:category biolink:Disease . OMIM:184260 a owl:Class ; @@ -392112,13 +408562,13 @@ OMIM:184260 a owl:Class ; PMID:30728324, PMID:6499247, PMID:8881299 ; - oboInOwl:hasDbXref UMLS:C2745953 ; oboInOwl:hasExactSynonym "ODCD1", "goldblatt syndrome", "odcd", "odontochondrodysplasia 1", "spondylometaphyseal dysplasia with dentinogenesis imperfecta" ; rdfs:subClassOf OMIMPS:184260 ; + skos:exactMatch UMLS:C2745953 ; biolink:category biolink:Disease . OMIM:184450 a owl:Class ; @@ -392133,11 +408583,11 @@ OMIM:184450 a owl:Class ; PMID:7197739, PMID:8844557, PMID:9263943 ; - oboInOwl:hasDbXref UMLS:C3489627 ; oboInOwl:hasExactSynonym "STUT1", "stammering", "stuttering, familial persistent, 1" ; rdfs:subClassOf OMIMPS:184450 ; + skos:exactMatch UMLS:C3489627 ; biolink:category biolink:Disease . OMIM:184500 a owl:Class ; @@ -392147,9 +408597,9 @@ OMIM:184500 a owl:Class ; PMID:2766570, PMID:9008238, PMID:9091916 ; - oboInOwl:hasDbXref UMLS:C0259771 ; oboInOwl:hasExactSynonym "sebaceous cysts, multiple", "steatocystoma multiplex" ; + skos:exactMatch UMLS:C0259771 ; biolink:category biolink:Disease . OMIM:184700 a owl:Class ; @@ -392201,13 +408651,13 @@ OMIM:184700 a owl:Class ; PMID:9843997, PMID:9920059 ; RO:0002525 CHR:9606chr19p13.2 ; - oboInOwl:hasDbXref UMLS:C0032460 ; oboInOwl:hasExactSynonym "PCOS1", "hyperandrogenemia", "pco1", "pcos", "polycystic ovary syndrome 1", "stein-leventhal syndrome" ; + skos:exactMatch UMLS:C0032460 ; biolink:category biolink:Disease . OMIM:184840 a owl:Class ; @@ -392221,7 +408671,6 @@ OMIM:184840 a owl:Class ; PMID:9506662, PMID:9799295, PMID:9805126 ; - oboInOwl:hasDbXref UMLS:C1848488 ; oboInOwl:hasExactSynonym "OSMEDA", "osmed, heterozygous", "otospondylomegaepiphyseal dysplasia, autosomal dominant", @@ -392229,6 +408678,7 @@ OMIM:184840 a owl:Class ; "stickler syndrome, iia iii, formerly", "weissenbacher-zweymuller syndrome" ; rdfs:subClassOf OMIMPS:184840 ; + skos:exactMatch UMLS:C1848488 ; biolink:category biolink:Disease . OMIM:185000 a owl:Class ; @@ -392263,11 +408713,11 @@ OMIM:185000 a owl:Class ; PMID:7694657, PMID:8639421, PMID:9718354 ; - oboInOwl:hasDbXref UMLS:C1861455 ; oboInOwl:hasExactSynonym "OHST", "ohs", "overhydrated hereditary stomatocytosis", "potassium-sodium disorder of erythrocyte" ; + skos:exactMatch UMLS:C1861455 ; biolink:category biolink:Disease . OMIM:185070 a owl:Class ; @@ -392284,11 +408734,11 @@ OMIM:185070 a owl:Class ; PMID:25044882, PMID:25577287, PMID:4085141 ; - oboInOwl:hasDbXref UMLS:C1861451 ; oboInOwl:hasExactSynonym "STRMK", "stormorken syndrome", "thrombocytopathy, asplenia, and miosis", "york platelet syndrome" ; + skos:exactMatch UMLS:C1861451 ; biolink:category biolink:Disease . OMIM:185100 a owl:Class ; @@ -392304,10 +408754,10 @@ OMIM:185100 a owl:Class ; PMID:5783746, PMID:7953247 ; RO:0002525 CHR:9606chr7p22.1 ; - oboInOwl:hasDbXref UMLS:C1861449, - UMLS:C1861450 ; oboInOwl:hasExactSynonym "strabismus, susceptibility to", "strabismus, susceptibility to, 1" ; + skos:exactMatch UMLS:C1861449, + UMLS:C1861450 ; biolink:category biolink:Disease . OMIM:185300 a owl:Class ; @@ -392327,10 +408777,10 @@ OMIM:185300 a owl:Class ; PMID:5501905, PMID:7645596, PMID:8770273 ; - oboInOwl:hasDbXref UMLS:C0038505, - ORPHA:3205 ; oboInOwl:hasExactSynonym "SWS", "sturge-weber syndrome" ; + skos:exactMatch UMLS:C0038505, + ORPHA:3205 ; biolink:category biolink:Disease . OMIM:185500 a owl:Class ; @@ -392368,10 +408818,10 @@ OMIM:185500 a owl:Class ; PMID:9215670, PMID:9215671, PMID:975952 ; - oboInOwl:hasDbXref UMLS:C0003499 ; oboInOwl:hasExactSynonym "SVAS", "supravalvar aortic stenosis, eisenberg iia", "supravalvular aortic stenosis" ; + skos:exactMatch UMLS:C0003499 ; biolink:category biolink:Disease . OMIM:185535 a owl:Class ; @@ -392395,7 +408845,6 @@ OMIM:185535 a owl:Class ; PMID:8382772 ; RO:0002525 CHR:9606chr2p21 ; RO:0003303 OMIM:613217 ; - oboInOwl:hasDbXref UMLS:C0812305 ; oboInOwl:hasExactSynonym "EPCAM", "antigen defined by monoclonal antibody auai", "epithelial cellular adhesion molecule", @@ -392405,7 +408854,9 @@ OMIM:185535 a owl:Class ; "tumor-associated calcium signal transducer 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4072 ; - skos:exactMatch HGNC_symbol:EPCAM ; + skos:exactMatch UMLS:C0812305, + HGNC:11529, + HGNC_symbol:EPCAM ; biolink:category biolink:Gene . OMIM:185900 a owl:Class ; @@ -392424,14 +408875,14 @@ OMIM:185900 a owl:Class ; PMID:7915184, PMID:8882401 ; RO:0002525 CHR:9606chr2q34-q36 ; - oboInOwl:hasDbXref UMLS:C1861380, - ORPHA:1527, - ORPHA:93402 ; oboInOwl:hasExactSynonym "chromosome 2q35 duplication syndrome", "craniosynostosis, philadelphia iia", "sd1", "syndactyly, iia 1", "zygodactyly" ; + skos:exactMatch UMLS:C1861380, + ORPHA:1527, + ORPHA:93402 ; biolink:category biolink:Disease . OMIM:186000 a owl:Class ; @@ -392467,10 +408918,10 @@ OMIM:186000 a owl:Class ; PMID:8817328, PMID:8900279, PMID:9758628 ; - oboInOwl:hasDbXref UMLS:C2699746 ; oboInOwl:hasExactSynonym "SPD1", "syndactyly, iia 2", "synpolydactyly 1" ; + skos:exactMatch UMLS:C2699746 ; biolink:category biolink:Disease . OMIM:186550 a owl:Class ; @@ -392479,11 +408930,11 @@ OMIM:186550 a owl:Class ; PMID:23022097, PMID:30711920, PMID:4702300 ; - oboInOwl:hasDbXref UMLS:C1861313 ; oboInOwl:hasExactSynonym "LBNBG", "brachydactyly with joint dysplasia", "liebenberg syndrome", "synostosis, carpal, with dysplastic elbow joints and brachydactyly" ; + skos:exactMatch UMLS:C1861313 ; biolink:category biolink:Disease . OMIM:186570 a owl:Class ; @@ -392491,11 +408942,11 @@ OMIM:186570 a owl:Class ; IAO:0000142 PMID:11545688, PMID:4019538, PMID:589846 ; - oboInOwl:hasDbXref UMLS:C1861305, - UMLS:C1861306 ; oboInOwl:hasExactSynonym "TCC", "synostosis of talus and calcaneus with short stature", "tarsal-carpal coalition syndrome" ; + skos:exactMatch UMLS:C1861305, + UMLS:C1861306 ; biolink:category biolink:Disease . OMIM:186580 a owl:Class ; @@ -392519,7 +408970,6 @@ OMIM:186580 a owl:Class ; PMID:9124059, PMID:9508240, PMID:9864645 ; - oboInOwl:hasDbXref UMLS:C1861303 ; oboInOwl:hasExactSynonym "BLAUS", "arthrocutaneouveal granulomatosis", "blau syndrome", @@ -392528,6 +408978,7 @@ OMIM:186580 a owl:Class ; "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial", "jabs syndrome", "sarcoidosis, early-onset" ; + skos:exactMatch UMLS:C1861303 ; biolink:category biolink:Disease . OMIM:186700 a owl:Class ; @@ -392539,8 +408990,8 @@ OMIM:186700 a owl:Class ; PMID:4183140, PMID:7482254, PMID:7714606 ; - oboInOwl:hasDbXref UMLS:C4538540 ; oboInOwl:hasExactSynonym "syringomyelia, noncommunicating isolated" ; + skos:exactMatch UMLS:C4538540 ; biolink:category biolink:Disease . OMIM:187011 a owl:Class ; @@ -392562,7 +409013,6 @@ OMIM:187011 a owl:Class ; PMID:8837769 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:609423 ; - oboInOwl:hasDbXref UMLS:C1332691 ; oboInOwl:hasExactSynonym "CCL5", "chemokine, cc motif, ligand 5", "regulated upon activation, normally t-expressed, and presumably secreted", @@ -392571,7 +409021,9 @@ OMIM:187011 a owl:Class ; "t cell-specific rantes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6352 ; - skos:exactMatch HGNC_symbol:CCL5 ; + skos:exactMatch UMLS:C1332691, + HGNC:10632, + HGNC_symbol:CCL5 ; biolink:category biolink:Gene . OMIM:187260 a owl:Class ; @@ -392580,17 +409032,17 @@ OMIM:187260 a owl:Class ; PMID:4015128, PMID:6824361 ; RO:0002525 CHR:9606chr5q14 ; - oboInOwl:hasDbXref UMLS:C0406502 ; oboInOwl:hasExactSynonym "hbt", "telangiectasia, generalized essential", "telangiectasia, hereditary benign" ; + skos:exactMatch UMLS:C0406502 ; biolink:category biolink:Disease . OMIM:187290 a owl:Class ; rdfs:label "temperature sensitivity complementation, cell cycle specific, h142" ; - oboInOwl:hasDbXref UMLS:C1861252 ; oboInOwl:hasExactSynonym "H142T", - "temperature sensitivity complementation, cell cycle specific, h142" . + "temperature sensitivity complementation, cell cycle specific, h142" ; + skos:exactMatch UMLS:C1861252 . OMIM:187300 a owl:Class ; rdfs:label "telangiectasia, hereditary hemorrhagic, iia 1" ; @@ -392697,7 +409149,6 @@ OMIM:187300 a owl:Class ; PMID:9508248, PMID:9541302, PMID:9753031 ; - oboInOwl:hasDbXref UMLS:C4551861 ; oboInOwl:hasExactSynonym "HHT1", "hht", "orw disease", @@ -392705,19 +409156,20 @@ OMIM:187300 a owl:Class ; "telangiectasia, hereditary hemorrhagic, iia 1", "telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber" ; rdfs:subClassOf OMIMPS:187300 ; + skos:exactMatch UMLS:C4551861 ; biolink:category biolink:Disease . OMIM:187320 a owl:Class ; rdfs:label "temperature sensitivity complementation, cell cycle specific, ts13" ; - oboInOwl:hasDbXref UMLS:C1861244 ; oboInOwl:hasExactSynonym "TS13", - "temperature sensitivity complementation, cell cycle specific, ts13" . + "temperature sensitivity complementation, cell cycle specific, ts13" ; + skos:exactMatch UMLS:C1861244 . OMIM:187330 a owl:Class ; rdfs:label "temperature sensitivity complementation, cell cycle specific, ts546" ; - oboInOwl:hasDbXref UMLS:C1861243 ; oboInOwl:hasExactSynonym "TS546", - "temperature sensitivity complementation, cell cycle specific, ts546" . + "temperature sensitivity complementation, cell cycle specific, ts546" ; + skos:exactMatch UMLS:C1861243 . OMIM:187395 a owl:Class ; rdfs:label "TDGF1" ; @@ -392730,15 +409182,16 @@ OMIM:187395 a owl:Class ; PMID:8661720, PMID:9195995 ; RO:0002525 CHR:9606chr3p21.31 ; - oboInOwl:hasDbXref UMLS:C1420667, - UMLS:C1861235 ; oboInOwl:hasExactSynonym "TDGF1", "cripto growth factor", "forebrain defects", "teratocarcinoma-derived growth factor 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6997 ; - skos:exactMatch HGNC_symbol:TDGF1 ; + skos:exactMatch UMLS:C1420667, + UMLS:C1861235, + HGNC:11701, + HGNC_symbol:TDGF1 ; biolink:category biolink:Gene . OMIM:187600 a owl:Class ; @@ -392795,13 +409248,13 @@ OMIM:187600 a owl:Class ; PMID:9182787, PMID:9302269, PMID:9677066 ; - oboInOwl:hasDbXref UMLS:C1868678 ; oboInOwl:hasExactSynonym "TD1", "lethal short-limbed platyspondylic dwarfism, san diego iia", "platyspondylic lethal skeletal dysplasia, san diego iia", "thanatophoric dwarfism", "thanatophoric dysplasia", "thanatophoric dysplasia, iia 1" ; + skos:exactMatch UMLS:C1868678 ; biolink:category biolink:Disease . OMIM:187601 a owl:Class ; @@ -392815,12 +409268,12 @@ OMIM:187601 a owl:Class ; PMID:6683076, PMID:7773297, PMID:9677066 ; - oboInOwl:hasDbXref UMLS:C1300257 ; oboInOwl:hasExactSynonym "TD2", "cloverleaf skull with thanatophoric dwarfism", "thanatophoric dysplasia with kleeblattschaedel", "thanatophoric dysplasia with straight femurs and cloverleaf skull", "thanatophoric dysplasia, iia 2" ; + skos:exactMatch UMLS:C1300257 ; biolink:category biolink:Disease . OMIM:187900 a owl:Class ; @@ -392830,11 +409283,11 @@ OMIM:187900 a owl:Class ; PMID:24325358, PMID:28041820, PMID:5681484 ; - oboInOwl:hasDbXref UMLS:C1861194 ; oboInOwl:hasExactSynonym "BDPLT17", "bleeding disorder, platelet-type, 17", "thrombasthenia-thrombocytopenia, hereditary" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C1861194 ; biolink:category biolink:Disease . OMIM:188000 a owl:Class ; @@ -392860,11 +409313,11 @@ OMIM:188000 a owl:Class ; PMID:6082223, PMID:6421717, PMID:6465131 ; - oboInOwl:hasDbXref UMLS:C1861185 ; oboInOwl:hasExactSynonym "THC2", "thrombocytopenia 2", "thrombocytopenia, autosomal dominant, 2" ; rdfs:subClassOf OMIMPS:313900 ; + skos:exactMatch UMLS:C1861185 ; biolink:category biolink:Disease . OMIM:188025 a owl:Class ; @@ -392876,10 +409329,10 @@ OMIM:188025 a owl:Class ; PMID:7703487, PMID:8019893 ; RO:0002525 CHR:9606chr11q23 ; - oboInOwl:hasDbXref UMLS:C1956093 ; oboInOwl:hasExactSynonym "TCPT", "chromosome 11q23 deletion syndrome", "thrombocytopenia, paris-trousseau iia" ; + skos:exactMatch UMLS:C1956093 ; biolink:category biolink:Disease . OMIM:188055 a owl:Class ; @@ -392946,7 +409399,6 @@ OMIM:188055 a owl:Class ; PMID:9759618, PMID:9846775, PMID:9878639 ; - oboInOwl:hasDbXref UMLS:C1861171 ; oboInOwl:hasExactSynonym "THPH2", "activated protein c resistance", "apc resistance", @@ -392957,6 +409409,7 @@ OMIM:188055 a owl:Class ; "thrombophilia due to deficiency of activated protein c cofactor", "thrombophilia due to factor 5 leiden" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C1861171 ; biolink:category biolink:Disease . OMIM:188400 a owl:Class ; @@ -393066,9 +409519,6 @@ OMIM:188400 a owl:Class ; PMID:9511978, PMID:9550365, PMID:9875047 ; - oboInOwl:hasDbXref UMLS:C0012236, - UMLS:C1414025, - ORPHA:567 ; oboInOwl:hasExactSynonym "DGS", "catch22", "chromosome 22q11.2 deletion syndrome", @@ -393077,6 +409527,9 @@ OMIM:188400 a owl:Class ; "hypoplasia of thymus and parathyroids", "takao vcf syndrome", "third and fourth pharyngeal pouch syndrome" ; + skos:exactMatch UMLS:C0012236, + UMLS:C1414025, + ORPHA:567 ; biolink:category biolink:Disease . OMIM:188550 a owl:Class ; @@ -393141,14 +409594,14 @@ OMIM:188550 a owl:Class ; PMID:9768676, PMID:9814501, PMID:9837827 ; - oboInOwl:hasDbXref UMLS:C0238463, - UMLS:C4721429 ; oboInOwl:hasExactSynonym "NMTC1", "familial nonmedullary thyroid cancer, papillary", "nonmedullary thyroid carcinoma, papillary", "papillary carcinoma of thyroid", "thyroid cancer, nonmedullary, 1" ; rdfs:subClassOf OMIMPS:188550 ; + skos:exactMatch UMLS:C0238463, + UMLS:C4721429 ; biolink:category biolink:Disease . OMIM:188580 a owl:Class ; @@ -393169,10 +409622,10 @@ OMIM:188580 a owl:Class ; PMID:6017520, PMID:7711509, PMID:977720 ; - oboInOwl:hasDbXref UMLS:C2749982 ; oboInOwl:hasExactSynonym "TTPP1", "thyrotoxic periodic paralysis, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:188580 ; + skos:exactMatch UMLS:C2749982 ; biolink:category biolink:Disease . OMIM:188740 a owl:Class ; @@ -393197,10 +409650,10 @@ OMIM:188740 a owl:Class ; PMID:7726219, PMID:8636194, PMID:9950363 ; - oboInOwl:hasDbXref UMLS:C1861098 ; oboInOwl:hasExactSynonym "THYP", "tibia, hypoplasia or aplasia of, with polydactyly", "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia" ; + skos:exactMatch UMLS:C1861098 ; biolink:category biolink:Disease . OMIM:188855 a owl:Class ; @@ -393214,7 +409667,6 @@ OMIM:188855 a owl:Class ; PMID:9058801, PMID:9180075, PMID:9756476 ; - oboInOwl:hasDbXref UMLS:C1415164 ; oboInOwl:hasExactSynonym "GNLY", "d2s69e", "granulysin", @@ -393222,7 +409674,9 @@ OMIM:188855 a owl:Class ; "t-lymphocyte activation gene 519" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10578 ; - skos:exactMatch HGNC_symbol:GNLY ; + skos:exactMatch UMLS:C1415164, + HGNC:4414, + HGNC_symbol:GNLY ; biolink:category biolink:Gene . OMIM:189800 a owl:Class ; @@ -393280,9 +409734,6 @@ OMIM:189800 a owl:Class ; PMID:9459326, PMID:9878639 ; RO:0002525 CHR:9606chr2p13 ; - oboInOwl:hasDbXref UMLS:C0032914, - UMLS:C0162739, - UMLS:C0852036 ; oboInOwl:hasExactSynonym "PEE1", "hemolysis, elevated liver enzymes, and low platelet count", "hypertension, pregnancy-induced", @@ -393291,6 +409742,9 @@ OMIM:189800 a owl:Class ; "preg1", "toxemia of pregnancy" ; rdfs:subClassOf OMIMPS:189800 ; + skos:exactMatch UMLS:C0032914, + UMLS:C0162739, + UMLS:C0852036 ; biolink:category biolink:Disease . OMIM:189902 a owl:Class ; @@ -393302,21 +409756,21 @@ OMIM:189902 a owl:Class ; PMID:8446173, PMID:9027491, PMID:9337405 ; - oboInOwl:hasDbXref UMLS:C1384538 ; oboInOwl:hasExactSynonym "TFDP1", "e2f dimerization partner 1", "transcription factor dp1", "transcription factor, sequence-specific, drtf1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7027 ; - skos:exactMatch HGNC_symbol:TFDP1 ; + skos:exactMatch UMLS:C1384538, + HGNC:11749, + HGNC_symbol:TFDP1 ; biolink:category biolink:Gene . OMIM:189903 a owl:Class ; rdfs:label "NFYA" ; IAO:0000142 PMID:1774067, PMID:2000400 ; - oboInOwl:hasDbXref UMLS:C1417715 ; oboInOwl:hasExactSynonym "NFYA", "hap2 ccaat-binding protein", "nuclear factor binding to y box of hla genes", @@ -393324,7 +409778,9 @@ OMIM:189903 a owl:Class ; "transcription factor nf-y, a subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4800 ; - skos:exactMatch HGNC_symbol:NFYA ; + skos:exactMatch UMLS:C1417715, + HGNC:7804, + HGNC_symbol:NFYA ; biolink:category biolink:Gene . OMIM:190020 a owl:Class ; @@ -393421,7 +409877,17 @@ OMIM:190020 a owl:Class ; PMID:8960317 ; RO:0002525 CHR:9606chr11p15.5 ; RO:0003303 OMIM:188470 ; - oboInOwl:hasDbXref UMLS:C0079471, + oboInOwl:hasExactSynonym "HRAS", + "harvey murine sarcoma virus oncogene", + "hras protooncogene, gtpase", + "hras1", + "p21", + "p21(ras)", + "transformation gene: oncogene hamsv", + "v-ha-ras harvey rat sarcoma viral oncogene homolog" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:3265 ; + skos:exactMatch UMLS:C0079471, UMLS:C0587248, UMLS:C1851162, UMLS:C1968782, @@ -393434,18 +409900,9 @@ OMIM:190020 a owl:Class ; UMLS:C4017653, UMLS:C4225656, UMLS:C4225657, - UMLS:C4479707 ; - oboInOwl:hasExactSynonym "HRAS", - "harvey murine sarcoma virus oncogene", - "hras protooncogene, gtpase", - "hras1", - "p21", - "p21(ras)", - "transformation gene: oncogene hamsv", - "v-ha-ras harvey rat sarcoma viral oncogene homolog" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:3265 ; - skos:exactMatch HGNC_symbol:HRAS ; + UMLS:C4479707, + HGNC:5173, + HGNC_symbol:HRAS ; biolink:category biolink:Gene . OMIM:190070 a owl:Class ; @@ -393560,7 +410017,18 @@ OMIM:190070 a owl:Class ; PMID:9378386 ; RO:0002525 CHR:9606chr12p12.1 ; RO:0003303 OMIM:163200 ; - oboInOwl:hasDbXref UMLS:C1537502, + oboInOwl:hasExactSynonym "KRAS", + "c-kras", + "kirsten murine sarcoma virus 2", + "kirsten ras1", + "kras protooncogene, gtpase", + "oncogene kras1", + "oncogene kras2", + "v-ki-ras1 pseudogene", + "v-ki-ras2 kirsten rat sarcoma viral oncogene homolog" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:3845 ; + skos:exactMatch UMLS:C1537502, UMLS:C1851162, UMLS:C1860985, UMLS:C1860991, @@ -393578,19 +410046,9 @@ OMIM:190070 a owl:Class ; UMLS:C4016404, UMLS:C4016405, UMLS:C4693979, - UMLS:C5193174 ; - oboInOwl:hasExactSynonym "KRAS", - "c-kras", - "kirsten murine sarcoma virus 2", - "kirsten ras1", - "kras protooncogene, gtpase", - "oncogene kras1", - "oncogene kras2", - "v-ki-ras1 pseudogene", - "v-ki-ras2 kirsten rat sarcoma viral oncogene homolog" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:3845 ; - skos:exactMatch HGNC_symbol:KRAS ; + UMLS:C5193174, + HGNC:6407, + HGNC_symbol:KRAS ; biolink:category biolink:Gene . OMIM:190100 a owl:Class ; @@ -393603,10 +410061,10 @@ OMIM:190100 a owl:Class ; PMID:9416823, PMID:9918373 ; RO:0002525 CHR:9606chr9q13-q21 ; - oboInOwl:hasDbXref UMLS:C1860972 ; oboInOwl:hasExactSynonym "GSM1", "geniospasm 1", "trembling chin" ; + skos:exactMatch UMLS:C1860972 ; biolink:category biolink:Disease . OMIM:190120 a owl:Class ; @@ -393650,7 +410108,6 @@ OMIM:190120 a owl:Class ; PMID:8806651 ; RO:0002525 CHR:9606chr17q21.1 ; RO:0003303 OMIM:614450 ; - oboInOwl:hasDbXref UMLS:C0242987 ; oboInOwl:hasExactSynonym "THRA", "erba-alpha", "erba-related 7", @@ -393662,7 +410119,9 @@ OMIM:190120 a owl:Class ; "v-erb-a avian erythroblastic leukemia viral oncogene homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7067 ; - skos:exactMatch HGNC_symbol:THRA ; + skos:exactMatch UMLS:C0242987, + HGNC:11796, + HGNC_symbol:THRA ; biolink:category biolink:Gene . OMIM:190151 a owl:Class ; @@ -393685,7 +410144,6 @@ OMIM:190151 a owl:Class ; PMID:8188716 ; RO:0002525 CHR:9606chr12q13.2 ; RO:0003303 OMIM:133180 ; - oboInOwl:hasDbXref UMLS:C0812265 ; oboInOwl:hasExactSynonym "ERBB3", "erb-b2 receptor tyrosine kinase 3", "oncogene erbb3", @@ -393693,7 +410151,9 @@ OMIM:190151 a owl:Class ; "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2065 ; - skos:exactMatch HGNC_symbol:ERBB3 ; + skos:exactMatch UMLS:C0812265, + HGNC:3431, + HGNC_symbol:ERBB3 ; biolink:category biolink:Gene . OMIM:190320 a owl:Class ; @@ -393716,10 +410176,10 @@ OMIM:190320 a owl:Class ; PMID:9382143, PMID:9467018, PMID:9783705 ; - oboInOwl:hasDbXref UMLS:C0265333 ; oboInOwl:hasExactSynonym "TDO", "tdo syndrome", "trichodentoosseous syndrome" ; + skos:exactMatch UMLS:C0265333 ; biolink:category biolink:Disease . OMIM:190330 a owl:Class ; @@ -393727,11 +410187,11 @@ OMIM:190330 a owl:Class ; IAO:0000142 PMID:24989505, PMID:5013247, PMID:9400804 ; - oboInOwl:hasDbXref UMLS:C0854699, - ORPHA:411788 ; oboInOwl:hasExactSynonym "TCMGLY", "eyelashes, long", "trichomegaly" ; + skos:exactMatch UMLS:C0854699, + ORPHA:411788 ; biolink:category biolink:Disease . OMIM:190351 a owl:Class ; @@ -393742,12 +410202,12 @@ OMIM:190351 a owl:Class ; PMID:4025405, PMID:6517098, PMID:8209886 ; - oboInOwl:hasDbXref UMLS:C1860823, - ORPHA:77258 ; oboInOwl:hasExactSynonym "TRPS3", "sugio-kajii syndrome", "trichorhinophalangeal syndrome, iia 3" ; rdfs:subClassOf OMIMPS:190350 ; + skos:exactMatch UMLS:C1860823, + ORPHA:77258 ; biolink:category biolink:Disease . OMIM:190440 a owl:Class ; @@ -393756,19 +410216,19 @@ OMIM:190440 a owl:Class ; PMID:15857417, PMID:2282717, PMID:6741996 ; - oboInOwl:hasDbXref UMLS:C0432122 ; oboInOwl:hasExactSynonym "TRIGNO1", "craniosynostosis, metopic", "trigonocephaly 1" ; rdfs:subClassOf OMIMPS:190440 ; + skos:exactMatch UMLS:C0432122 ; biolink:category biolink:Disease . OMIM:190445 a owl:Class ; rdfs:label "triiodothyronine receptor auxiliary protein" ; IAO:0000142 PMID:1708100 ; - oboInOwl:hasDbXref UMLS:C1860815 ; oboInOwl:hasExactSynonym "TRAP", - "triiodothyronine receptor auxiliary protein" . + "triiodothyronine receptor auxiliary protein" ; + skos:exactMatch UMLS:C1860815 . OMIM:190685 a owl:Class ; rdfs:label "down syndrome" ; @@ -393857,17 +410317,17 @@ OMIM:190685 a owl:Class ; PMID:9784380, PMID:9880209 ; RO:0002525 CHR:9606chr21q22.3 ; - oboInOwl:hasDbXref UMLS:C0013080, - UMLS:C1860786, - UMLS:C1860787, - UMLS:C1860788, - UMLS:C1860789 ; oboInOwl:hasExactSynonym "down syndrome", "down syndrome chromosome region", "down syndrome critical region", "leukemia, megakaryoblastic, of down syndrome", "transient myeloproliferative disorder of down syndrome", "trisomy 21" ; + skos:exactMatch UMLS:C0013080, + UMLS:C1860786, + UMLS:C1860787, + UMLS:C1860788, + UMLS:C1860789 ; biolink:category biolink:Disease . OMIM:190900 a owl:Class ; @@ -393880,11 +410340,11 @@ OMIM:190900 a owl:Class ; PMID:4542649, PMID:5314165, PMID:8088841 ; - oboInOwl:hasDbXref UMLS:C0155017 ; oboInOwl:hasExactSynonym "blue colorblindness", "colorblindness, tritan", "colorblindness, tritanopic", "tritanopia" ; + skos:exactMatch UMLS:C0155017 ; biolink:category biolink:Disease . OMIM:191030 a owl:Class ; @@ -393929,7 +410389,6 @@ OMIM:191030 a owl:Class ; PMID:8390664 ; RO:0002525 CHR:9606chr1q21.3 ; RO:0003303 OMIM:609284 ; - oboInOwl:hasDbXref UMLS:C1420874 ; oboInOwl:hasExactSynonym "TPM3", "alpha-tropomyosin 3", "alpha-tropomyosin, slow skeletal", @@ -393938,7 +410397,9 @@ OMIM:191030 a owl:Class ; "tropomyosin 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7170 ; - skos:exactMatch HGNC_symbol:TPM3 ; + skos:exactMatch UMLS:C1420874, + HGNC:12012, + HGNC_symbol:TPM3 ; biolink:category biolink:Gene . OMIM:191170 a owl:Class ; @@ -394296,7 +410757,13 @@ OMIM:191170 a owl:Class ; PMID:9891044 ; RO:0002525 CHR:9606chr17p13.1 ; RO:0003303 OMIM:259500 ; - oboInOwl:hasDbXref UMLS:C0007102, + oboInOwl:hasExactSynonym "TP53", + "p53", + "transformation-related protein 53", + "tumor protein p53" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:7157 ; + skos:exactMatch UMLS:C0007102, UMLS:C0009402, UMLS:C0024305, UMLS:C0029463, @@ -394316,14 +410783,9 @@ OMIM:191170 a owl:Class ; UMLS:C4016282, UMLS:C4016419, UMLS:C4748488, - UMLS:C4749067 ; - oboInOwl:hasExactSynonym "TP53", - "p53", - "transformation-related protein 53", - "tumor protein p53" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:7157 ; - skos:exactMatch HGNC_symbol:TP53 ; + UMLS:C4749067, + HGNC:11998, + HGNC_symbol:TP53 ; biolink:category biolink:Gene . OMIM:191181 a owl:Class ; @@ -394351,11 +410813,11 @@ OMIM:191181 a owl:Class ; PMID:8041728, PMID:8964054 ; RO:0002525 CHR:9606chr11q13 ; - oboInOwl:hasDbXref UMLS:C1860658 ; oboInOwl:hasExactSynonym "ST3", "cervical carcinoma, tumor-suppressor gene involved 1n", "suppressor of tumorigenicity 3", "tumor-suppressor gene, hela cell iia" ; + skos:exactMatch UMLS:C1860658 ; biolink:category biolink:Disease . OMIM:191195 a owl:Class ; @@ -394374,7 +410836,6 @@ OMIM:191195 a owl:Class ; PMID:8479752 ; RO:0002525 CHR:9606chr10p11.23 ; RO:0003303 OMIM:211980 ; - oboInOwl:hasDbXref UMLS:C1337108 ; oboInOwl:hasExactSynonym "MAP3K8", "cancer osaka thyroid oncogene", "ewing sarcoma transformant", @@ -394383,18 +410844,21 @@ OMIM:191195 a owl:Class ; "tumor progression locus 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1326 ; - skos:exactMatch HGNC_symbol:MAP3K8 ; + skos:exactMatch UMLS:C1337108, + HGNC:6860, + HGNC_symbol:MAP3K8 ; biolink:category biolink:Gene . OMIM:191270 a owl:Class ; rdfs:label "tyrosinase-like" ; IAO:0000142 PMID:1903356, PMID:3146546 ; - oboInOwl:hasDbXref UMLS:C3887993 ; oboInOwl:hasExactSynonym "TYRL", "tyrosinase-like", "tyrosinase-related segment" ; - skos:exactMatch HGNC_symbol:TYRL . + skos:exactMatch UMLS:C3887993, + HGNC:12443, + HGNC_symbol:TYRL . OMIM:191315 a owl:Class ; rdfs:label "NTRK1" ; @@ -394454,9 +410918,6 @@ OMIM:191315 a owl:Class ; PMID:9052790 ; RO:0002525 CHR:9606chr1q23.1 ; RO:0003303 OMIM:256800 ; - oboInOwl:hasDbXref UMLS:C0020074, - UMLS:C0919487, - UMLS:C1833921 ; oboInOwl:hasExactSynonym "NTRK1", "neurotrophic tyrosine kinase, receptor, iia 1", "ntrk1/tfg fusion gene", @@ -394466,7 +410927,11 @@ OMIM:191315 a owl:Class ; "tyrosine kinase receptor a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4914 ; - skos:exactMatch HGNC_symbol:NTRK1 ; + skos:exactMatch UMLS:C0020074, + UMLS:C0919487, + UMLS:C1833921, + HGNC:8031, + HGNC_symbol:NTRK1 ; biolink:category biolink:Gene . OMIM:191321 a owl:Class ; @@ -394474,7 +410939,6 @@ OMIM:191321 a owl:Class ; IAO:0000142 PMID:1850507, PMID:2581967, PMID:8188300 ; - oboInOwl:hasDbXref UMLS:C1421257 ; oboInOwl:hasExactSynonym "UBA52", "human ubiquitin carboxyl extension protein, 52-residue", "ribosomal protein l40", @@ -394482,7 +410946,9 @@ OMIM:191321 a owl:Class ; "ubiquitin a-52-residue ribosomal protein fusion product" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7311 ; - skos:exactMatch HGNC_symbol:UBA52 ; + skos:exactMatch UMLS:C1421257, + HGNC:12458, + HGNC_symbol:UBA52 ; biolink:category biolink:Gene . OMIM:191339 a owl:Class ; @@ -394503,13 +410969,14 @@ OMIM:191339 a owl:Class ; PMID:2988935, PMID:3029682, PMID:9422699 ; - oboInOwl:hasDbXref UMLS:C1421262 ; oboInOwl:hasExactSynonym "UBB", "polyubiquitin B", "ubiquitin B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7314 ; - skos:exactMatch HGNC_symbol:UBB ; + skos:exactMatch UMLS:C1421262, + HGNC:12463, + HGNC_symbol:UBB ; biolink:category biolink:Gene . OMIM:191343 a owl:Class ; @@ -394519,7 +410986,6 @@ OMIM:191343 a owl:Class ; PMID:1657614, PMID:2537304, PMID:2581967 ; - oboInOwl:hasDbXref UMLS:C1419730 ; oboInOwl:hasExactSynonym "RPS27A", "human ubiquitin carboxyl extension protein, 80-residue", "ribosomal protein s27a", @@ -394527,7 +410993,9 @@ OMIM:191343 a owl:Class ; "ubiquitin carboxyl extension protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6233 ; - skos:exactMatch HGNC_symbol:RPS27A ; + skos:exactMatch UMLS:C1419730, + HGNC:10417, + HGNC_symbol:RPS27A ; biolink:category biolink:Gene . OMIM:191390 a owl:Class ; @@ -394537,10 +411005,10 @@ OMIM:191390 a owl:Class ; PMID:8841195, PMID:9931338 ; RO:0002525 CHR:9606chr7q22 ; - oboInOwl:hasDbXref UMLS:C2674051 ; oboInOwl:hasExactSynonym "IBD11", "inflammatory bowel disease 11" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2674051 ; biolink:category biolink:Disease . OMIM:191480 a owl:Class ; @@ -394555,12 +411023,12 @@ OMIM:191480 a owl:Class ; PMID:736432, PMID:7387058, PMID:8225707 ; - oboInOwl:hasDbXref UMLS:C0432347, - UMLS:C4551573 ; oboInOwl:hasExactSynonym "UHS1", "pili trianguli et canaliculi", "uncombable hair syndrome", "uncombable hair syndrome 1" ; + skos:exactMatch UMLS:C0432347, + UMLS:C4551573 ; biolink:category biolink:Disease . OMIM:191540 a owl:Class ; @@ -394577,11 +411045,12 @@ OMIM:191540 a owl:Class ; PMID:3821905, PMID:8290593 ; RO:0002525 CHR:9606chr1p22 ; - oboInOwl:hasDbXref UMLS:C3887994 ; oboInOwl:hasExactSynonym "UOX", "urate oxidase, pseudogene", "uricase" ; - skos:exactMatch HGNC_symbol:UOX . + skos:exactMatch UMLS:C3887994, + HGNC:12575, + HGNC_symbol:UOX . OMIM:191720 a owl:Class ; rdfs:label "NT5C" ; @@ -394594,7 +411063,6 @@ OMIM:191720 a owl:Class ; PMID:3186746, PMID:6301357, PMID:6320196 ; - oboInOwl:hasDbXref UMLS:C1424776 ; oboInOwl:hasExactSynonym "5-prime,3-prime-nucleotidase, cytosolic", "NT5C", "deoxyribonucleotidase, cytosolic, 1", @@ -394602,7 +411070,9 @@ OMIM:191720 a owl:Class ; "uridine 5-prime monophosphate hydrolase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:30833 ; - skos:exactMatch HGNC_symbol:NT5C ; + skos:exactMatch UMLS:C1424776, + HGNC:17144, + HGNC_symbol:NT5C ; biolink:category biolink:Gene . OMIM:191742 a owl:Class ; @@ -394623,8 +411093,6 @@ OMIM:191760 a owl:Class ; PMID:9119383 ; RO:0002525 CHR:9606chr2p15 ; RO:0003303 OMIM:618744 ; - oboInOwl:hasDbXref UMLS:C1421321, - UMLS:C5231487 ; oboInOwl:hasExactSynonym "UGP2", "udpg", "ugp1", @@ -394632,7 +411100,10 @@ OMIM:191760 a owl:Class ; "uridyl diphosphate glucose pyrophosphorylase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7360 ; - skos:exactMatch HGNC_symbol:UGP2 ; + skos:exactMatch UMLS:C1421321, + UMLS:C5231487, + HGNC:12527, + HGNC_symbol:UGP2 ; biolink:category biolink:Gene . OMIM:191830 a owl:Class ; @@ -394664,7 +411135,6 @@ OMIM:191830 a owl:Class ; PMID:7544896, PMID:8475459, PMID:9054500 ; - oboInOwl:hasDbXref UMLS:C1619700 ; oboInOwl:hasExactSynonym "RHDA1", "hereditary renal aplasia", "renal adysplasia", @@ -394672,6 +411142,7 @@ OMIM:191830 a owl:Class ; "renal aplasia", "renal hypodysplasia/aplasia 1" ; rdfs:subClassOf OMIMPS:191830 ; + skos:exactMatch UMLS:C1619700 ; biolink:category biolink:Disease . OMIM:191900 a owl:Class ; @@ -394688,12 +411159,12 @@ OMIM:191900 a owl:Class ; PMID:8737977, PMID:9704852, PMID:9797932 ; - oboInOwl:hasDbXref UMLS:C0268390 ; oboInOwl:hasExactSynonym "MWS", "cryopyrin-associated periodic syndrome 2", "muckle-wells syndrome", "uda syndrome", "urticaria-deafness-amyloidosis syndrome" ; + skos:exactMatch UMLS:C0268390 ; biolink:category biolink:Disease . OMIM:192020 a owl:Class ; @@ -394723,7 +411194,6 @@ OMIM:192020 a owl:Class ; PMID:9162006, PMID:9550363, PMID:9643286 ; - oboInOwl:hasDbXref UMLS:C1421318 ; oboInOwl:hasExactSynonym "SCGB1A1", "blastokinin", "clara cell secretory protein", @@ -394733,7 +411203,9 @@ OMIM:192020 a owl:Class ; "uteroglobin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7356 ; - skos:exactMatch HGNC_symbol:SCGB1A1 ; + skos:exactMatch UMLS:C1421318, + HGNC:12523, + HGNC_symbol:SCGB1A1 ; biolink:category biolink:Gene . OMIM:192090 a owl:Class ; @@ -394812,15 +411284,6 @@ OMIM:192090 a owl:Class ; PMID:9751616 ; RO:0002525 CHR:9606chr16q22.1 ; RO:0003303 OMIM:176807 ; - oboInOwl:hasDbXref UMLS:C0694872, - UMLS:C1708349, - UMLS:C1969537, - UMLS:C3469524, - UMLS:C3549742, - UMLS:C4016426, - UMLS:C4016427, - UMLS:C4016428, - UMLS:C4551988 ; oboInOwl:hasExactSynonym "CDH1", "cadherin 1", "cadherin, epithelial", @@ -394830,7 +411293,17 @@ OMIM:192090 a owl:Class ; "uvomorulin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:999 ; - skos:exactMatch HGNC_symbol:CDH1 ; + skos:exactMatch UMLS:C0694872, + UMLS:C1708349, + UMLS:C1969537, + UMLS:C3469524, + UMLS:C3549742, + UMLS:C4016426, + UMLS:C4016427, + UMLS:C4016428, + UMLS:C4551988, + HGNC:1748, + HGNC_symbol:CDH1 ; biolink:category biolink:Gene . OMIM:192150 a owl:Class ; @@ -394843,7 +411316,6 @@ OMIM:192150 a owl:Class ; PMID:30755616 ; RO:0002525 CHR:9606chr6p21.33 ; RO:0003303 OMIM:617802 ; - oboInOwl:hasDbXref UMLS:C1823613 ; oboInOwl:hasExactSynonym "VARS1", "g7a", "valrs", @@ -394852,7 +411324,9 @@ OMIM:192150 a owl:Class ; "vars2, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7407 ; - skos:exactMatch HGNC_symbol:VARS1 ; + skos:exactMatch UMLS:C1823613, + HGNC:12651, + HGNC_symbol:VARS1 ; biolink:category biolink:Gene . OMIM:192200 a owl:Class ; @@ -394862,8 +411336,8 @@ OMIM:192200 a owl:Class ; PMID:4426629, PMID:4435791, PMID:5365895 ; - oboInOwl:hasDbXref UMLS:C0042345 ; - oboInOwl:hasExactSynonym "varicose veins" . + oboInOwl:hasExactSynonym "varicose veins" ; + skos:exactMatch UMLS:C0042345 . OMIM:192350 a owl:Class ; rdfs:label "vater/vacterl association" ; @@ -394881,8 +411355,8 @@ OMIM:192350 a owl:Class ; PMID:9382149, PMID:9916841, PMID:9934977 ; - oboInOwl:hasDbXref UMLS:C4225671 ; oboInOwl:hasExactSynonym "vater/vacterl association" ; + skos:exactMatch UMLS:C4225671 ; biolink:category biolink:Disease . OMIM:192500 a owl:Class ; @@ -394964,10 +411438,6 @@ OMIM:192500 a owl:Class ; PMID:9927398, PMID:9927399, PMID:9950666 ; - oboInOwl:hasDbXref UMLS:C3277700, - UMLS:C4551647, - ORPHA:101016, - ORPHA:768 ; oboInOwl:hasExactSynonym "LQT1", "long qt syndrome 1", "long qt syndrome 1, acquired, susceptibility to", @@ -394976,6 +411446,10 @@ OMIM:192500 a owl:Class ; "ventricular fibrillation with prolonged qt interval", "ward-romano syndrome" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C3277700, + UMLS:C4551647, + ORPHA:101016, + ORPHA:768 ; biolink:category biolink:Disease . OMIM:192605 a owl:Class ; @@ -394983,9 +411457,9 @@ OMIM:192605 a owl:Class ; IAO:0000142 PMID:10588218, PMID:1549981, PMID:9637720 ; - oboInOwl:hasDbXref UMLS:C0340485 ; oboInOwl:hasExactSynonym "ventricular tachycardia, familial", "ventricular tachycardia, familial polymorphic" ; + skos:exactMatch UMLS:C0340485 ; biolink:category biolink:Disease . OMIM:192950 a owl:Class ; @@ -394997,11 +411471,11 @@ OMIM:192950 a owl:Class ; PMID:2591068, PMID:455829, PMID:6736236 ; - oboInOwl:hasDbXref UMLS:C0240912 ; oboInOwl:hasExactSynonym "CVT", "pes valgus, congenital convex", "rocker-bottom foot", "vertical talus, congenital" ; + skos:exactMatch UMLS:C0240912 ; biolink:category biolink:Disease . OMIM:192975 a owl:Class ; @@ -395017,7 +411491,6 @@ OMIM:192975 a owl:Class ; PMID:15902308, PMID:1824634, PMID:1932750 ; - oboInOwl:hasDbXref UMLS:C1416487 ; oboInOwl:hasExactSynonym "ITGA4", "cd49d", "integrin, alpha-4", @@ -395025,7 +411498,9 @@ OMIM:192975 a owl:Class ; "vla4 receptor, alpha-4 subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3676 ; - skos:exactMatch HGNC_symbol:ITGA4 ; + skos:exactMatch UMLS:C1416487, + HGNC:6140, + HGNC_symbol:ITGA4 ; biolink:category biolink:Gene . OMIM:193000 a owl:Class ; @@ -395057,11 +411532,11 @@ OMIM:193000 a owl:Class ; PMID:9578958, PMID:9598733 ; RO:0002525 CHR:9606chr1p13 ; - oboInOwl:hasDbXref UMLS:C4551858 ; oboInOwl:hasExactSynonym "VUR1", "vesicoureteral reflux 1", "vur" ; rdfs:subClassOf OMIMPS:193000 ; + skos:exactMatch UMLS:C4551858 ; biolink:category biolink:Disease . OMIM:193003 a owl:Class ; @@ -395071,11 +411546,11 @@ OMIM:193003 a owl:Class ; PMID:18087240, PMID:8355816 ; RO:0002525 CHR:9606chr13q31-q33 ; - oboInOwl:hasDbXref UMLS:C1860433 ; oboInOwl:hasExactSynonym "NYS4", "nystagmus 4, congenital, autosomal dominant", "vestibulocerebellar disorder with predominant ocular signs" ; rdfs:subClassOf OMIMPS:310700 ; + skos:exactMatch UMLS:C1860433 ; biolink:category biolink:Disease . OMIM:193007 a owl:Class ; @@ -395088,13 +411563,13 @@ OMIM:193007 a owl:Class ; PMID:8290084, PMID:9870618 ; RO:0002525 CHR:9606chr6q ; - oboInOwl:hasDbXref UMLS:C0155502, - UMLS:C2749845 ; oboInOwl:hasExactSynonym "BRV", "vertigo, benign paroxysmal positional", "vertigo, benign recurrent", "vertigo, benign recurrent, 1", "vestibulopathy, familial" ; + skos:exactMatch UMLS:C0155502, + UMLS:C2749845 ; biolink:category biolink:Disease . OMIM:193090 a owl:Class ; @@ -395106,14 +411581,14 @@ OMIM:193090 a owl:Class ; PMID:6620485, PMID:7053761, PMID:930926 ; - oboInOwl:hasDbXref UMLS:C0342700, - UMLS:C2674026 ; oboInOwl:hasExactSynonym "cobalamin pseudodeficiency due to transcobalamin deficiency", "cobalamin r binder protein deficiency", "r binder deficiency with lactoferrin deficiency", "tcn1 deficiency", "transcobalamin 1 deficiency", "transcobalamin 1 deficiency with lactoferrin deficiency" ; + skos:exactMatch UMLS:C0342700, + UMLS:C2674026 ; biolink:category biolink:Disease . OMIM:193200 a owl:Class ; @@ -395122,9 +411597,9 @@ OMIM:193200 a owl:Class ; PMID:20410501, PMID:20526339 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C3277701 ; oboInOwl:hasExactSynonym "VAMAS6", "vitiligo-associated multiple autoimmune disease susceptibility 6" ; + skos:exactMatch UMLS:C3277701 ; biolink:category biolink:Disease . OMIM:193230 a owl:Class ; @@ -395133,10 +411608,10 @@ OMIM:193230 a owl:Class ; PMID:15557460, PMID:18179896, PMID:4812083 ; - oboInOwl:hasDbXref UMLS:C1860405 ; oboInOwl:hasExactSynonym "SVD", "snowflake vitreoretinal degeneration", "vitreoretinal degeneration, snowflake iia" ; + skos:exactMatch UMLS:C1860405 ; biolink:category biolink:Disease . OMIM:193235 a owl:Class ; @@ -395147,12 +411622,12 @@ OMIM:193235 a owl:Class ; PMID:2234842, PMID:23055945, PMID:25994508 ; - oboInOwl:hasDbXref UMLS:C0242852, - UMLS:C4721549 ; oboInOwl:hasExactSynonym "VRNI", "proliferative vitreoretinopathy", "vitreoretinopathy, neovascular inflammatory", "vitreoretinopathy, neovascular inflammatory, autosomal dominant" ; + skos:exactMatch UMLS:C0242852, + UMLS:C4721549 ; biolink:category biolink:Disease . OMIM:193510 a owl:Class ; @@ -395177,14 +411652,14 @@ OMIM:193510 a owl:Class ; PMID:9158138, PMID:9279758, PMID:9856573 ; - oboInOwl:hasDbXref UMLS:C1860339, - ORPHA:3440, - ORPHA:895 ; oboInOwl:hasExactSynonym "WS2A", "waardenburg syndrome without dystopia canthorum", "waardenburg syndrome, iia 2a", "ws2" ; rdfs:subClassOf OMIMPS:193500 ; + skos:exactMatch UMLS:C1860339, + ORPHA:3440, + ORPHA:895 ; biolink:category biolink:Disease . OMIM:193520 a owl:Class ; @@ -395194,11 +411669,11 @@ OMIM:193520 a owl:Class ; PMID:1770531, PMID:6025371, PMID:8317503 ; - oboInOwl:hasDbXref UMLS:C0553586 ; oboInOwl:hasExactSynonym "WTSN", "cafe-au-lait spots with pulmonic stenosis", "pulmonic stenosis with cafe-au-lait spots", "watson syndrome" ; + skos:exactMatch UMLS:C0553586 ; biolink:category biolink:Disease . OMIM:193530 a owl:Class ; @@ -395211,11 +411686,11 @@ OMIM:193530 a owl:Class ; PMID:6711608, PMID:7628126, PMID:9399901 ; - oboInOwl:hasDbXref UMLS:C0457013 ; oboInOwl:hasExactSynonym "WAD", "acrodental dysostosis of weyers", "curry-hall syndrome", "weyers acrofacial dysostosis" ; + skos:exactMatch UMLS:C0457013 ; biolink:category biolink:Disease . OMIM:193670 a owl:Class ; @@ -395232,12 +411707,12 @@ OMIM:193670 a owl:Class ; PMID:30625055, PMID:868817, PMID:889707 ; - oboInOwl:hasDbXref UMLS:C0472817 ; oboInOwl:hasExactSynonym "WHIMS1", "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1", "whim syndrome 1", "whims" ; rdfs:subClassOf OMIMPS:193670 ; + skos:exactMatch UMLS:C0472817 ; biolink:category biolink:Disease . OMIM:193900 a owl:Class ; @@ -395252,12 +411727,12 @@ OMIM:193900 a owl:Class ; PMID:7469444, PMID:7493030, PMID:7493031 ; - oboInOwl:hasDbXref UMLS:C4011926 ; oboInOwl:hasExactSynonym "WSN1", "leukokeratosis, hereditary mucosal", "white sponge nevus 1", "white sponge nevus of cannon" ; rdfs:subClassOf OMIMPS:193900 ; + skos:exactMatch UMLS:C4011926 ; biolink:category biolink:Disease . OMIM:194071 a owl:Class ; @@ -395270,10 +411745,10 @@ OMIM:194071 a owl:Class ; PMID:2542777, PMID:2566168, PMID:2848758 ; - oboInOwl:hasDbXref UMLS:C3887743 ; oboInOwl:hasExactSynonym "WT2", "wilms tumor 2" ; rdfs:subClassOf OMIMPS:194070 ; + skos:exactMatch UMLS:C3887743 ; biolink:category biolink:Disease . OMIM:194072 a owl:Class ; @@ -395292,21 +411767,21 @@ OMIM:194072 a owl:Class ; PMID:6278119, PMID:6289758 ; RO:0002525 CHR:9606chr11p13 ; - oboInOwl:hasDbXref UMLS:C0206115 ; oboInOwl:hasExactSynonym "WAGR", "chromosome 11p13 deletion syndrome", "wagr syndrome", "wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome" ; + skos:exactMatch UMLS:C0206115 ; biolink:category biolink:Disease . OMIM:194090 a owl:Class ; rdfs:label "wilms tumor 3" ; IAO:0000142 PMID:1317258 ; RO:0002525 CHR:9606chr16q ; - oboInOwl:hasDbXref UMLS:C1860265 ; oboInOwl:hasExactSynonym "WT3", "wilms tumor 3" ; rdfs:subClassOf OMIMPS:194070 ; + skos:exactMatch UMLS:C1860265 ; biolink:category biolink:Disease . OMIM:194200 a owl:Class ; @@ -395326,11 +411801,11 @@ OMIM:194200 a owl:Class ; PMID:7069337, PMID:7657794, PMID:9241277 ; - oboInOwl:hasDbXref UMLS:C0043202 ; oboInOwl:hasExactSynonym "accessory atrioventricular pathways", "preexcitation syndrome", "wolff-parkinson-white syndrome", "wpw syndrome" ; + skos:exactMatch UMLS:C0043202 ; biolink:category biolink:Disease . OMIM:194300 a owl:Class ; @@ -395342,17 +411817,17 @@ OMIM:194300 a owl:Class ; PMID:3567076, PMID:4063181, PMID:668970 ; - oboInOwl:hasDbXref UMLS:C1860238 ; oboInOwl:hasExactSynonym "ADWH", "woolly hair, autosomal dominant" ; + skos:exactMatch UMLS:C1860238 ; biolink:category biolink:Disease . OMIM:194370 a owl:Class ; rdfs:label "x-ray sensitivity" ; IAO:0000142 PMID:477414 ; - oboInOwl:hasDbXref UMLS:C1860232 ; oboInOwl:hasExactSynonym "XRS", - "x-ray sensitivity" . + "x-ray sensitivity" ; + skos:exactMatch UMLS:C1860232 . OMIM:194521 a owl:Class ; rdfs:label "ZNF33A" ; @@ -395360,7 +411835,6 @@ OMIM:194521 a owl:Class ; PMID:1639412, PMID:7584044, PMID:8464732 ; - oboInOwl:hasDbXref UMLS:C1421787 ; oboInOwl:hasExactSynonym "ZNF33A", "kiaa0065", "kox2", @@ -395370,7 +411844,9 @@ OMIM:194521 a owl:Class ; "znf11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7581 ; - skos:exactMatch HGNC_symbol:ZNF33A ; + skos:exactMatch UMLS:C1421787, + HGNC:13096, + HGNC_symbol:ZNF33A ; biolink:category biolink:Gene . OMIM:194554 a owl:Class ; @@ -395378,14 +411854,15 @@ OMIM:194554 a owl:Class ; IAO:0000142 PMID:8262519, PMID:9067431, PMID:9570955 ; - oboInOwl:hasDbXref UMLS:C1421801 ; oboInOwl:hasExactSynonym "ZNF45", "kox5", "zinc finger protein 13", "zinc finger protein 45" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7596 ; - skos:exactMatch HGNC_symbol:ZNF45 ; + skos:exactMatch UMLS:C1421801, + HGNC:13111, + HGNC_symbol:ZNF45 ; biolink:category biolink:Gene . OMIM:194555 a owl:Class ; @@ -395396,7 +411873,6 @@ OMIM:194555 a owl:Class ; PMID:17900823, PMID:20591825, PMID:8262519 ; - oboInOwl:hasDbXref UMLS:C1421713 ; oboInOwl:hasExactSynonym "ZNF224", "bone marrow zinc finger protein 2", "kox22", @@ -395404,25 +411880,28 @@ OMIM:194555 a owl:Class ; "zinc finger protein 255" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7767 ; - skos:exactMatch HGNC_symbol:ZNF224 ; + skos:exactMatch UMLS:C1421713, + HGNC:13017, + HGNC_symbol:ZNF224 ; biolink:category biolink:Gene . OMIM:194630 a owl:Class ; rdfs:label "zinc finger protein 123, pseudogene" ; IAO:0000142 PMID:1339395, PMID:1992479 ; - oboInOwl:hasDbXref UMLS:C1421614 ; oboInOwl:hasExactSynonym "ZNF123P", "zinc finger protein 123", "zinc finger protein 123, pseudogene" ; - skos:exactMatch HGNC_symbol:ZNF123P . + skos:exactMatch UMLS:C1421614, + HGNC:12906, + HGNC_symbol:ZNF123P . OMIM:200950 a owl:Class ; rdfs:label "acid phosphatase deficiency" ; IAO:0000142 PMID:4139985, PMID:5410815 ; - oboInOwl:hasDbXref UMLS:C0268410 ; - oboInOwl:hasExactSynonym "acid phosphatase deficiency" . + oboInOwl:hasExactSynonym "acid phosphatase deficiency" ; + skos:exactMatch UMLS:C0268410 . OMIM:200990 a owl:Class ; rdfs:label "acrocallosal syndrome" ; @@ -395455,9 +411934,6 @@ OMIM:200990 a owl:Class ; PMID:7424976, PMID:8092201, PMID:8723075 ; - oboInOwl:hasDbXref UMLS:C0796147, - UMLS:C3277723, - UMLS:C3280899 ; oboInOwl:hasExactSynonym "ACLS", "Schinzel acrocallosal syndrome", "acrocallosal syndrome", @@ -395465,6 +411941,9 @@ OMIM:200990 a owl:Class ; "joubert syndrome 12", "joubert syndrome 12/15, digenic" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C0796147, + UMLS:C3277723, + UMLS:C3280899 ; biolink:category biolink:Disease . OMIM:201000 a owl:Class ; @@ -395482,13 +411961,13 @@ OMIM:201000 a owl:Class ; PMID:5769296, PMID:5935752, PMID:5987027 ; - oboInOwl:hasDbXref UMLS:C4551510 ; oboInOwl:hasExactSynonym "CRPT1", "acps 2", "acrocephalopolysyndactyly iia 2", "carpenter syndrome", "carpenter syndrome 1" ; rdfs:subClassOf OMIMPS:201000 ; + skos:exactMatch UMLS:C4551510 ; biolink:category biolink:Disease . OMIM:201100 a owl:Class ; @@ -395523,9 +412002,9 @@ OMIM:201100 a owl:Class ; PMID:946739, PMID:955933, PMID:955934 ; - oboInOwl:hasDbXref UMLS:C0221036 ; oboInOwl:hasExactSynonym "AEZ", "acrodermatitis enteropathica, zinc-deficiency iia" ; + skos:exactMatch UMLS:C0221036 ; biolink:category biolink:Disease . OMIM:201300 a owl:Class ; @@ -395551,7 +412030,6 @@ OMIM:201300 a owl:Class ; PMID:4303658, PMID:4323167, PMID:7172482 ; - oboInOwl:hasDbXref UMLS:C2752089 ; oboInOwl:hasExactSynonym "HSAN2A", "acroosteolysis, giaccai iia", "acroosteolysis, neurogenic", @@ -395564,6 +412042,7 @@ OMIM:201300 a owl:Class ; "neuropathy, hereditary sensory, iia 2a", "neuropathy, progressive sensory, of children" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C2752089 ; biolink:category biolink:Disease . OMIM:201400 a owl:Class ; @@ -395580,10 +412059,10 @@ OMIM:201400 a owl:Class ; PMID:8222301, PMID:8222302, PMID:8882784 ; - oboInOwl:hasDbXref UMLS:C0271583 ; oboInOwl:hasExactSynonym "IAD", "acth deficiency, isolated", "adrenocorticotropic hormone deficiency" ; + skos:exactMatch UMLS:C0271583 ; biolink:category biolink:Disease . OMIM:201450 a owl:Class ; @@ -395621,13 +412100,13 @@ OMIM:201450 a owl:Class ; PMID:947635, PMID:9797589, PMID:9797590 ; - oboInOwl:hasDbXref UMLS:C0220710 ; oboInOwl:hasExactSynonym "ACADMD", "acadm deficiency", "acyl-coa dehydrogenase, medium-chain, deficiency of", "carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency", "mcad deficiency", "mcadh deficiency" ; + skos:exactMatch UMLS:C0220710 ; biolink:category biolink:Disease . OMIM:201470 a owl:Class ; @@ -395654,13 +412133,13 @@ OMIM:201470 a owl:Class ; PMID:9499414, PMID:9578969, PMID:9932958 ; - oboInOwl:hasDbXref UMLS:C0342783 ; oboInOwl:hasExactSynonym "ACADSD", "acads deficiency", "acyl-coa dehydrogenase, short-chain, deficiency of", "lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency", "scad deficiency", "scadh deficiency" ; + skos:exactMatch UMLS:C0342783 ; biolink:category biolink:Disease . OMIM:201710 a owl:Class ; @@ -395681,11 +412160,11 @@ OMIM:201710 a owl:Class ; PMID:8634702, PMID:8948562, PMID:9077535 ; - oboInOwl:hasDbXref UMLS:C0342474 ; oboInOwl:hasExactSynonym "LCAH", "adrenal hyperplasia 1", "lipoid congenital adrenal hyperplasia", "lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism" ; + skos:exactMatch UMLS:C0342474 ; biolink:category biolink:Disease . OMIM:201810 a owl:Class ; @@ -395703,10 +412182,10 @@ OMIM:201810 a owl:Class ; PMID:295036, PMID:3088022, PMID:8486361 ; - oboInOwl:hasDbXref UMLS:C0342471 ; oboInOwl:hasExactSynonym "3-beta-hsd deficiency", "adrenal hyperplasia 2", "adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency" ; + skos:exactMatch UMLS:C0342471 ; biolink:category biolink:Disease . OMIM:202110 a owl:Class ; @@ -395734,14 +412213,14 @@ OMIM:202110 a owl:Class ; PMID:9326943, PMID:9360545, PMID:999330 ; - oboInOwl:hasDbXref UMLS:C0268285, - UMLS:C3277849 ; oboInOwl:hasExactSynonym "17,20-lyase deficiency, isolated", "17-alpha-hydroxylase deficiency", "17-alpha-hydroxylase/17,20-lyase deficiency, combined complete", "17-alpha-hydroxylase/17,20-lyase deficiency, combined partial", "adrenal hyperplasia 5", "adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency" ; + skos:exactMatch UMLS:C0268285, + UMLS:C3277849 ; biolink:category biolink:Disease . OMIM:202650 a owl:Class ; @@ -395763,12 +412242,12 @@ OMIM:202650 a owl:Class ; PMID:6846401, PMID:7758948, PMID:9895322 ; - oboInOwl:hasDbXref UMLS:C0265242 ; oboInOwl:hasExactSynonym "AGOTC", "agnathia-otocephaly complex", "dysgnathia complex agnathia-holoprosencephaly", "holoprosencephaly-agnathia", "otocephaly" ; + skos:exactMatch UMLS:C0265242 ; biolink:category biolink:Disease . OMIM:202700 a owl:Class ; @@ -395801,11 +412280,11 @@ OMIM:202700 a owl:Class ; PMID:9386665, PMID:9639496, PMID:9691084 ; - oboInOwl:hasDbXref UMLS:C1859966, - ORPHA:486 ; oboInOwl:hasExactSynonym "SCN1", "neutropenia, severe congenital, 1, autosomal dominant" ; rdfs:subClassOf OMIMPS:202700 ; + skos:exactMatch UMLS:C1859966, + ORPHA:486 ; biolink:category biolink:Disease . OMIM:203200 a owl:Class ; @@ -395848,8 +412327,6 @@ OMIM:203200 a owl:Class ; PMID:8592327, PMID:8723691, PMID:9099845 ; - oboInOwl:hasDbXref UMLS:C0268495, - UMLS:C0268497 ; oboInOwl:hasExactSynonym "OCA2", "albinism 2", "albinism, brown oculocutaneous", @@ -395858,6 +412335,8 @@ OMIM:203200 a owl:Class ; "oculocutaneous albinism, iia 2", "oculocutaneous albinism, tyrosinase-positive" ; rdfs:subClassOf OMIMPS:203100 ; + skos:exactMatch UMLS:C0268495, + UMLS:C0268497 ; biolink:category biolink:Disease . OMIM:203290 a owl:Class ; @@ -395869,7 +412348,6 @@ OMIM:203290 a owl:Class ; PMID:6768477, PMID:8651291, PMID:9345097 ; - oboInOwl:hasDbXref UMLS:C0342683 ; oboInOwl:hasExactSynonym "OCA3", "albinism 3", "albinism, oculocutaneous, iia 3", @@ -395877,6 +412355,7 @@ OMIM:203290 a owl:Class ; "rufous oculocutaneous albinism", "xanthism" ; rdfs:subClassOf OMIMPS:203100 ; + skos:exactMatch UMLS:C0342683 ; biolink:category biolink:Disease . OMIM:203300 a owl:Class ; @@ -395909,14 +412388,14 @@ OMIM:203300 a owl:Class ; PMID:940919, PMID:9497254, PMID:9562579 ; - oboInOwl:hasDbXref UMLS:C2931875, - ORPHA:231500, - ORPHA:79430 ; oboInOwl:hasExactSynonym "HPS1", "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells", "delta storage pool disease", "hermansky-pudlak syndrome 1" ; rdfs:subClassOf OMIMPS:203300 ; + skos:exactMatch UMLS:C2931875, + ORPHA:231500, + ORPHA:79430 ; biolink:category biolink:Disease . OMIM:203450 a owl:Class ; @@ -395945,12 +412424,12 @@ OMIM:203450 a owl:Class ; PMID:5471920, PMID:8410038, PMID:8848205 ; - oboInOwl:hasDbXref UMLS:C0270726, + oboInOwl:hasExactSynonym "ALXDRD", + "alexander disease" ; + skos:exactMatch UMLS:C0270726, ORPHA:363717, ORPHA:363722, ORPHA:58 ; - oboInOwl:hasExactSynonym "ALXDRD", - "alexander disease" ; biolink:category biolink:Disease . OMIM:203500 a owl:Class ; @@ -395991,10 +412470,10 @@ OMIM:203500 a owl:Class ; PMID:9529363, PMID:9529368, PMID:9809834 ; - oboInOwl:hasDbXref UMLS:C0002066 ; oboInOwl:hasExactSynonym "AKU", "alkaptonuria", "homogentisic acid oxidase deficiency" ; + skos:exactMatch UMLS:C0002066 ; biolink:category biolink:Disease . OMIM:203650 a owl:Class ; @@ -396004,14 +412483,14 @@ OMIM:203650 a owl:Class ; PMID:28054173, PMID:6777601, PMID:6842537 ; - oboInOwl:hasDbXref UMLS:C1859878, - UMLS:C4551986, - ORPHA:2850 ; oboInOwl:hasExactSynonym "APMR1", "alopecia-mental retardation syndrome 1", "amr syndrome", "apmr" ; rdfs:subClassOf OMIMPS:203650 ; + skos:exactMatch UMLS:C1859878, + UMLS:C4551986, + ORPHA:2850 ; biolink:category biolink:Disease . OMIM:203655 a owl:Class ; @@ -396026,24 +412505,24 @@ OMIM:203655 a owl:Class ; PMID:9445480, PMID:9463324, PMID:9758627 ; - oboInOwl:hasDbXref UMLS:C1859877 ; oboInOwl:hasExactSynonym "ALUNC", "alopecia universalis congenita", "atrichia, generalized" ; rdfs:subClassOf OMIMPS:203655 ; + skos:exactMatch UMLS:C1859877 ; biolink:category biolink:Disease . OMIM:203740 a owl:Class ; rdfs:label "oxoglutarate dehydrogenase deficiency" ; IAO:0000142 PMID:7075624, PMID:8295396 ; - oboInOwl:hasDbXref UMLS:C2752074 ; oboInOwl:hasExactSynonym "2-ketoglutarate dehydrogenase deficiency", "OGDHD", "alpha-ketoglutarate dehydrogenase deficiency", "alpha-kgd deficiency", "oxoglutarate dehydrogenase deficiency", "oxoglutaric aciduria" ; + skos:exactMatch UMLS:C2752074 ; biolink:category biolink:Disease . OMIM:203750 a owl:Class ; @@ -396065,7 +412544,6 @@ OMIM:203750 a owl:Class ; PMID:7299555, PMID:8103405, PMID:9700610 ; - oboInOwl:hasDbXref UMLS:C1536500 ; oboInOwl:hasExactSynonym "2-methyl-3-hydroxybutyric acidemia", "3-ketothiolase deficiency", "3-ktd deficiency", @@ -396075,6 +412553,7 @@ OMIM:203750 a owl:Class ; "mat deficiency", "mitochondrial acetoacetyl-coa thiolase deficiency", "t2 deficiency" ; + skos:exactMatch UMLS:C1536500 ; biolink:category biolink:Disease . OMIM:203800 a owl:Class ; @@ -396110,10 +412589,10 @@ OMIM:203800 a owl:Class ; PMID:9409865, PMID:9663233, PMID:9921899 ; - oboInOwl:hasDbXref UMLS:C0268425 ; oboInOwl:hasExactSynonym "ALMS", "alss", "alstrom syndrome" ; + skos:exactMatch UMLS:C0268425 ; biolink:category biolink:Disease . OMIM:204200 a owl:Class ; @@ -396174,9 +412653,6 @@ OMIM:204200 a owl:Class ; PMID:9391897, PMID:9450775, PMID:9618513 ; - oboInOwl:hasDbXref UMLS:C0751383, - ORPHA:228346, - ORPHA:79264 ; oboInOwl:hasExactSynonym "CLN3", "batten disease", "ceroid lipofuscinosis, neuronal, 3", @@ -396184,6 +412660,9 @@ OMIM:204200 a owl:Class ; "spielmeyer-sjogren disease", "vogt-spielmeyer disease" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C0751383, + ORPHA:228346, + ORPHA:79264 ; biolink:category biolink:Disease . OMIM:204300 a owl:Class ; @@ -396199,12 +412678,12 @@ OMIM:204300 a owl:Class ; PMID:6477218, PMID:760366, PMID:7668317 ; - oboInOwl:hasDbXref UMLS:C0022797, - ORPHA:228340, - ORPHA:79262 ; oboInOwl:hasExactSynonym "CLN6B", "ceroid lipofuscinosis, neuronal, 6b (kufs type)" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C0022797, + ORPHA:228340, + ORPHA:79262 ; biolink:category biolink:Disease . OMIM:204500 a owl:Class ; @@ -396237,14 +412716,14 @@ OMIM:204500 a owl:Class ; PMID:9097964, PMID:9295267, PMID:9788728 ; - oboInOwl:hasDbXref UMLS:C0022340, - UMLS:C1876161 ; oboInOwl:hasExactSynonym "CLN2", "ceroid lipofuscinosis, neuronal, 2", "ceroid lipofuscinosis, neuronal, 2, variable age at onset", "jansky-bielschowsky disease", "neuronal ceroid lipofuscinosis, late infantile" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C0022340, + UMLS:C1876161 ; biolink:category biolink:Disease . OMIM:204700 a owl:Class ; @@ -396255,11 +412734,11 @@ OMIM:204700 a owl:Class ; PMID:23355523, PMID:3150442, PMID:4516465 ; - oboInOwl:hasDbXref UMLS:C2673922 ; oboInOwl:hasExactSynonym "AI2A1", "amelogenesis imperfecta, hypomaturation type, iia1", "amelogenesis imperfecta, pigmented hypomaturation type, 1" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C2673922 ; biolink:category biolink:Disease . OMIM:204870 a owl:Class ; @@ -396275,7 +412754,6 @@ OMIM:204870 a owl:Class ; PMID:7831029, PMID:949079, PMID:9758629 ; - oboInOwl:hasDbXref UMLS:C0339273 ; oboInOwl:hasExactSynonym "GDLD", "amyloid corneal dystrophy, japanese iia", "amyloidosis, corneal", @@ -396283,6 +412761,7 @@ OMIM:204870 a owl:Class ; "corneal dystrophy, gelatinous drop-like", "corneal dystrophy, lattice iia 3", "lattice corneal dystrophy, iia 3" ; + skos:exactMatch UMLS:C0339273 ; biolink:category biolink:Disease . OMIM:205400 a owl:Class ; @@ -396325,12 +412804,12 @@ OMIM:205400 a owl:Class ; PMID:75948, PMID:8432861, PMID:9731541 ; - oboInOwl:hasDbXref UMLS:C0039292 ; oboInOwl:hasExactSynonym "TGD", "analphalipoproteinemia", "high density lipoprotein deficiency, iia 1", "high density lipoprotein deficiency, tangier iia", "tangier disease" ; + skos:exactMatch UMLS:C0039292 ; biolink:category biolink:Disease . OMIM:205950 a owl:Class ; @@ -396338,18 +412817,18 @@ OMIM:205950 a owl:Class ; IAO:0000142 PMID:19412178, PMID:7039309, PMID:7912287 ; - oboInOwl:hasDbXref UMLS:C4225425 ; oboInOwl:hasExactSynonym "SIDBA2", "anemia, sideroblastic, 2, pyridoxine-refractory" ; rdfs:subClassOf OMIMPS:300751 ; + skos:exactMatch UMLS:C4225425 ; biolink:category biolink:Disease . OMIM:206000 a owl:Class ; rdfs:label "anemia, sideroblastic, pyridoxine-responsive, autosomal recessive" ; IAO:0000142 PMID:6817577 ; - oboInOwl:hasDbXref UMLS:C1859787 ; oboInOwl:hasExactSynonym "anemia, congenital sideroblastic, b6-responsive", - "anemia, sideroblastic, pyridoxine-responsive, autosomal recessive" . + "anemia, sideroblastic, pyridoxine-responsive, autosomal recessive" ; + skos:exactMatch UMLS:C1859787 . OMIM:206100 a owl:Class ; rdfs:label "anemia, hypochromic microcytic, with iron overload 1" ; @@ -396358,10 +412837,10 @@ OMIM:206100 a owl:Class ; PMID:15459009, PMID:16160008, PMID:16439678 ; - oboInOwl:hasDbXref UMLS:C3806153 ; oboInOwl:hasExactSynonym "AHMIO1", "anemia, hypochromic microcytic, with iron overload 1" ; rdfs:subClassOf OMIMPS:206100 ; + skos:exactMatch UMLS:C3806153 ; biolink:category biolink:Disease . OMIM:206200 a owl:Class ; @@ -396379,12 +412858,12 @@ OMIM:206200 a owl:Class ; PMID:807277, PMID:8602626, PMID:9544492 ; - oboInOwl:hasDbXref UMLS:C0085576 ; oboInOwl:hasExactSynonym "IRIDA", "anemia, hypochromic microcytic, with defect 1n iron metabolism", "iron-handling disorder, hereditary", "iron-refractory iron deficiency anemia", "pseudo-iron-deficiency anemia" ; + skos:exactMatch UMLS:C0085576 ; biolink:category biolink:Disease . OMIM:206500 a owl:Class ; @@ -396410,11 +412889,11 @@ OMIM:206500 a owl:Class ; PMID:7690966, PMID:7747793, PMID:8673125 ; - oboInOwl:hasDbXref UMLS:C0002902 ; oboInOwl:hasExactSynonym "ANPH1", "anencephaly 1", "anph" ; rdfs:subClassOf OMIMPS:206500 ; + skos:exactMatch UMLS:C0002902 ; biolink:category biolink:Disease . OMIM:206800 a owl:Class ; @@ -396428,12 +412907,12 @@ OMIM:206800 a owl:Class ; PMID:4702713, PMID:5149532, PMID:5767934 ; - oboInOwl:hasDbXref UMLS:C3277900 ; oboInOwl:hasExactSynonym "NDNC4", "anonychia totalis", "anonychia/hyponychia congenita", "nail disorder, nonsyndromic congenital, 4" ; rdfs:subClassOf OMIMPS:161050 ; + skos:exactMatch UMLS:C3277900 ; biolink:category biolink:Disease . OMIM:206920 a owl:Class ; @@ -396452,12 +412931,12 @@ OMIM:206920 a owl:Class ; PMID:7573150, PMID:8723070, PMID:9777341 ; - oboInOwl:hasDbXref UMLS:C0599973 ; oboInOwl:hasExactSynonym "MLA", "anophthalmia-syndactyly", "microphthalmia with limb anomalies", "ophthalmoacromelic syndrome", "waardenburg anophthalmia syndrome" ; + skos:exactMatch UMLS:C0599973 ; biolink:category biolink:Disease . OMIM:207750 a owl:Class ; @@ -396476,11 +412955,11 @@ OMIM:207750 a owl:Class ; PMID:6475985, PMID:6547689, PMID:7266379 ; - oboInOwl:hasDbXref UMLS:C1720779 ; oboInOwl:hasExactSynonym "apoc2 deficiency", "apolipoprotein c-ii deficiency", "c-ii anapolipoproteinemia", "hyperlipoproteinemia, iia 1b" ; + skos:exactMatch UMLS:C1720779 ; biolink:category biolink:Disease . OMIM:207800 a owl:Class ; @@ -396515,12 +412994,12 @@ OMIM:207800 a owl:Class ; PMID:8474825, PMID:879168, PMID:9762606 ; - oboInOwl:hasDbXref UMLS:C0268548, - ORPHA:90 ; oboInOwl:hasExactSynonym "arg1 deficiency", "arginase deficiency", "argininemia", "hyperargininemia" ; + skos:exactMatch UMLS:C0268548, + ORPHA:90 ; biolink:category biolink:Disease . OMIM:207900 a owl:Class ; @@ -396556,12 +413035,12 @@ OMIM:207900 a owl:Class ; PMID:7359236, PMID:84150, PMID:9504797 ; - oboInOwl:hasDbXref UMLS:C0268547 ; oboInOwl:hasExactSynonym "argininosuccinase deficiency", "argininosuccinate lyase deficiency", "argininosuccinic acid lyase deficiency", "argininosuccinic aciduria", "asl deficiency" ; + skos:exactMatch UMLS:C0268547 ; biolink:category biolink:Disease . OMIM:208050 a owl:Class ; @@ -396584,12 +413063,12 @@ OMIM:208050 a owl:Class ; PMID:5352829, PMID:5762119, PMID:6033167 ; - oboInOwl:hasDbXref UMLS:C1859726, - ORPHA:3342 ; oboInOwl:hasExactSynonym "ATORS", "arterial tortuosity", "arterial tortuosity syndrome", "ats" ; + skos:exactMatch UMLS:C1859726, + ORPHA:3342 ; biolink:category biolink:Disease . OMIM:208100 a owl:Class ; @@ -396612,14 +413091,14 @@ OMIM:208100 a owl:Class ; PMID:7726232, PMID:8787675, PMID:9345093 ; - oboInOwl:hasDbXref UMLS:C1859721, - UMLS:C5435650, - ORPHA:1143 ; oboInOwl:hasExactSynonym "AMC2", "amc, neurogenic iia", "arthrogryposis multiplex congenita 2, neurogenic iia", "arthrogryposis multiplex congenita, neurogenic iia" ; rdfs:subClassOf OMIMPS:617468 ; + skos:exactMatch UMLS:C1859721, + UMLS:C5435650, + ORPHA:1143 ; biolink:category biolink:Disease . OMIM:208155 a owl:Class ; @@ -396628,9 +413107,9 @@ OMIM:208155 a owl:Class ; PMID:2063898, PMID:25683120, PMID:3205375 ; - oboInOwl:hasDbXref UMLS:C1859711 ; oboInOwl:hasExactSynonym "arthrogryposis, whistling face, and developmental retardation", - "illum syndrome" . + "illum syndrome" ; + skos:exactMatch UMLS:C1859711 . OMIM:208230 a owl:Class ; rdfs:label "progressive pseudorheumatoid dysplasia" ; @@ -396647,14 +413126,14 @@ OMIM:208230 a owl:Class ; PMID:9222963, PMID:9737778, PMID:9781029 ; - oboInOwl:hasDbXref UMLS:C0432215, - ORPHA:1159 ; oboInOwl:hasExactSynonym "PPRD", "arthropathy, progressive pseudorheumatoid, of childhood", "ppd", "progressive pseudorheumatoid arthropathy of childhood", "progressive pseudorheumatoid dysplasia", "spondyloepiphyseal dysplasia tarda with progressive arthropathy" ; + skos:exactMatch UMLS:C0432215, + ORPHA:1159 ; biolink:category biolink:Disease . OMIM:208250 a owl:Class ; @@ -396673,7 +413152,6 @@ OMIM:208250 a owl:Class ; PMID:8835575, PMID:940709, PMID:9550484 ; - oboInOwl:hasDbXref UMLS:C1859690 ; oboInOwl:hasExactSynonym "CACP", "arthropathy-camptodactyly syndrome", "camptodactyly-arthropathy-coxa vara-pericarditis syndrome", @@ -396684,6 +413162,7 @@ OMIM:208250 a owl:Class ; "jacobs syndrome", "pac syndrome", "pericarditis-arthropathy-camptodactyly syndrome" ; + skos:exactMatch UMLS:C1859690 ; biolink:category biolink:Disease . OMIM:208400 a owl:Class ; @@ -396723,9 +413202,6 @@ OMIM:208400 a owl:Class ; PMID:9427148, PMID:9627765, PMID:9777961 ; - oboInOwl:hasDbXref UMLS:C0268225, - UMLS:C2931840, - ORPHA:93 ; oboInOwl:hasExactSynonym "AGU", "aga deficiency", "aspartylglucosaminidase deficiency", @@ -396733,6 +413209,9 @@ OMIM:208400 a owl:Class ; "aspartylglycosaminuria", "glycoasparaginase", "glycosylasparaginase deficiency" ; + skos:exactMatch UMLS:C0268225, + UMLS:C2931840, + ORPHA:93 ; biolink:category biolink:Disease . OMIM:208500 a owl:Class ; @@ -396779,13 +413258,13 @@ OMIM:208500 a owl:Class ; PMID:931421, PMID:972830 ; RO:0002525 CHR:9606chr15q13 ; - oboInOwl:hasDbXref UMLS:C4551856 ; oboInOwl:hasExactSynonym "SRTD1", "asphyxiating thoracic dystrophy 1", "jeune syndrome", "short-rib thoracic dysplasia 1 with or without polydactyly", "thoracic-pelvic-phalangeal dystrophy" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C4551856 ; biolink:category biolink:Disease . OMIM:208530 a owl:Class ; @@ -396815,9 +413294,6 @@ OMIM:208530 a owl:Class ; PMID:9152295, PMID:9201627, PMID:9443444 ; - oboInOwl:hasDbXref UMLS:C0175707, - UMLS:C3178806, - ORPHA:97548 ; oboInOwl:hasExactSynonym "RAI", "asplenia with cardiovascular anomalies", "heterotaxy, visceroatrial, autosomal recessive", @@ -396827,6 +413303,9 @@ OMIM:208530 a owl:Class ; "right atrial isomerism", "right isomerism", "vah, autosomal recessive" ; + skos:exactMatch UMLS:C0175707, + UMLS:C3178806, + ORPHA:97548 ; biolink:category biolink:Disease . OMIM:208540 a owl:Class ; @@ -396839,11 +413318,11 @@ OMIM:208540 a owl:Class ; PMID:729198, PMID:8733053, PMID:8874114 ; - oboInOwl:hasDbXref UMLS:C3715199 ; oboInOwl:hasExactSynonym "RHPD1", "renal-hepatic-pancreatic dysplasia 1", "rhpd" ; rdfs:subClassOf OMIMPS:208540 ; + skos:exactMatch UMLS:C3715199 ; biolink:category biolink:Disease . OMIM:208900 a owl:Class ; @@ -397032,8 +413511,6 @@ OMIM:208900 a owl:Class ; PMID:9711876, PMID:9887333, PMID:9915942 ; - oboInOwl:hasDbXref UMLS:C0004135, - ORPHA:100 ; oboInOwl:hasExactSynonym "AT", "at, complementation group a", "at, complementation group c", @@ -397043,6 +413520,8 @@ OMIM:208900 a owl:Class ; "ataxia-telangiectasia", "ataxia-telangiectasia variant", "louis-bar syndrome" ; + skos:exactMatch UMLS:C0004135, + ORPHA:100 ; biolink:category biolink:Disease . OMIM:208920 a owl:Class ; @@ -397073,7 +413552,6 @@ OMIM:208920 a owl:Class ; PMID:8583217, PMID:9667774, PMID:9708552 ; - oboInOwl:hasDbXref UMLS:C1859598 ; oboInOwl:hasExactSynonym "EAOH", "ataxia, adult-onset, with oculomotor apraxia", "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia", @@ -397081,6 +413559,7 @@ OMIM:208920 a owl:Class ; "ataxia-oculomotor apraxia syndrome", "ataxia-telangiectasia-like syndrome", "cerebellar ataxia, early-onset, with hypoalbuminemia" ; + skos:exactMatch UMLS:C1859598 ; biolink:category biolink:Disease . OMIM:209300 a owl:Class ; @@ -397094,11 +413573,11 @@ OMIM:209300 a owl:Class ; PMID:4959651, PMID:5829804, PMID:8317485 ; - oboInOwl:hasDbXref UMLS:C0521802, - UMLS:C3277918 ; oboInOwl:hasExactSynonym "atransferrinemia", "hypotransferrinemia, familial", "transferrin serum level quantitative trait locus 1" ; + skos:exactMatch UMLS:C0521802, + UMLS:C3277918 ; biolink:category biolink:Disease . OMIM:209500 a owl:Class ; @@ -397115,10 +413594,10 @@ OMIM:209500 a owl:Class ; PMID:17869066, PMID:9758627, PMID:9880231 ; - oboInOwl:hasDbXref UMLS:C1859592 ; oboInOwl:hasExactSynonym "APL", "atrichia with papular lesions", "papular atrichia" ; + skos:exactMatch UMLS:C1859592 ; biolink:category biolink:Disease . OMIM:209850 a owl:Class ; @@ -397231,14 +413710,14 @@ OMIM:209850 a owl:Class ; PMID:9254854, PMID:9546821 ; RO:0002525 CHR:9606chr7q22 ; - oboInOwl:hasDbXref UMLS:C0004352, - UMLS:C1510586, - UMLS:C1968924 ; oboInOwl:hasExactSynonym "autism", "autism spectrum disorder", "autism, susceptibility to, 1", "autistic disorder" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C0004352, + UMLS:C1510586, + UMLS:C1968924 ; biolink:category biolink:Disease . OMIM:209950 a owl:Class ; @@ -397263,14 +413742,14 @@ OMIM:209950 a owl:Class ; PMID:8592339, PMID:8960473, PMID:8960475 ; - oboInOwl:hasDbXref UMLS:C4011949, - ORPHA:319569, - ORPHA:99898 ; oboInOwl:hasExactSynonym "IMD27A", "ifngr1 deficiency, autosomal recessive", "immunodeficiency 27a", "immunodeficiency 27a, mycobacteriosis, autosomal recessive" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4011949, + ORPHA:319569, + ORPHA:99898 ; biolink:category biolink:Disease . OMIM:210100 a owl:Class ; @@ -397286,12 +413765,12 @@ OMIM:210100 a owl:Class ; PMID:5082513, PMID:5773299, PMID:5814159 ; - oboInOwl:hasDbXref UMLS:C1859518 ; oboInOwl:hasExactSynonym "BAIBA", "baib urinary excretion", "beta-aminoisobutyric acid, urinary excretion of", "beta-aminoisobutyric aciduria", "hyper-beta-aminoisobutyric aciduria" ; + skos:exactMatch UMLS:C1859518 ; biolink:category biolink:Disease . OMIM:210200 a owl:Class ; @@ -397316,7 +413795,6 @@ OMIM:210200 a owl:Class ; PMID:6441868, PMID:8598648, PMID:9187484 ; - oboInOwl:hasDbXref UMLS:C0268600 ; oboInOwl:hasExactSynonym "3-methylcrotonyl-coa carboxylase 1 deficiency", "3-methylcrotonylglycinuria 1", "MCC1D", @@ -397324,6 +413802,7 @@ OMIM:210200 a owl:Class ; "mccd iia 1", "methylcrotonylglycinuria iia 1" ; rdfs:subClassOf OMIMPS:210200 ; + skos:exactMatch UMLS:C0268600 ; biolink:category biolink:Disease . OMIM:210210 a owl:Class ; @@ -397338,13 +413817,13 @@ OMIM:210210 a owl:Class ; PMID:8598650, PMID:8831079, PMID:9544913 ; - oboInOwl:hasDbXref UMLS:C1859499 ; oboInOwl:hasExactSynonym "3-methylcrotonyl-coa carboxylase 2 deficiency", "3-methylcrotonylglycinuria 2", "MCC2D", "mcc2 deficiency", "methylcrotonylglycinuria, iia 2" ; rdfs:subClassOf OMIMPS:210200 ; + skos:exactMatch UMLS:C1859499 ; biolink:category biolink:Disease . OMIM:210370 a owl:Class ; @@ -397362,11 +413841,11 @@ OMIM:210370 a owl:Class ; PMID:6494635, PMID:677237, PMID:9787106 ; - oboInOwl:hasDbXref UMLS:C1859486 ; oboInOwl:hasExactSynonym "BCD", "bietti crystalline corneoretinal dystrophy", "bietti crystalline dystrophy", "bietti tapetoretinal degeneration with marginal corneal dystrophy" ; + skos:exactMatch UMLS:C1859486 ; biolink:category biolink:Disease . OMIM:210710 a owl:Class ; @@ -397393,8 +413872,6 @@ OMIM:210710 a owl:Class ; PMID:934161, PMID:9800907, PMID:984702 ; - oboInOwl:hasDbXref UMLS:C1859452, - ORPHA:2636 ; oboInOwl:hasExactSynonym "MOPD1", "brachymelic primordial dwarfism", "cephaloskeletal dysplasia", @@ -397403,18 +413880,20 @@ OMIM:210710 a owl:Class ; "mopd 1", "osteodysplastic primordial dwarfism, iia 1", "taybi-linder syndrome" ; + skos:exactMatch UMLS:C1859452, + ORPHA:2636 ; biolink:category biolink:Disease . OMIM:210750 a owl:Class ; rdfs:label "skin/hair/eye pigmentation, variation in, 6" ; IAO:0000142 PMID:17952075, PMID:21471978 ; - oboInOwl:hasDbXref UMLS:C2673866 ; oboInOwl:hasExactSynonym "SHEP6", "skin/hair/eye pigmentation 6, blond/brown hair", "skin/hair/eye pigmentation 6, blue/green eyes", "skin/hair/eye pigmentation, variation in, 6" ; rdfs:subClassOf OMIMPS:227220 ; + skos:exactMatch UMLS:C2673866 ; biolink:category biolink:Disease . OMIM:210900 a owl:Class ; @@ -397493,13 +413972,13 @@ OMIM:210900 a owl:Class ; PMID:9482582, PMID:9808625, PMID:9837821 ; - oboInOwl:hasDbXref UMLS:C0005859, - UMLS:C4746755 ; oboInOwl:hasExactSynonym "BLM", "bloom syndrome", "bs", "microcephaly, growth restriction, and increased sister chromatid exchange 1" ; rdfs:subClassOf OMIMPS:210900 ; + skos:exactMatch UMLS:C0005859, + UMLS:C4746755 ; biolink:category biolink:Disease . OMIM:211180 a owl:Class ; @@ -397512,10 +413991,10 @@ OMIM:211180 a owl:Class ; PMID:19463982, PMID:484596, PMID:7294952 ; - oboInOwl:hasDbXref UMLS:C1859405 ; oboInOwl:hasExactSynonym "BWCNS", "bowen hutterite syndrome, formerly", "bowen-conradi syndrome" ; + skos:exactMatch UMLS:C1859405 ; biolink:category biolink:Disease . OMIM:211380 a owl:Class ; @@ -397526,12 +414005,12 @@ OMIM:211380 a owl:Class ; PMID:29271567, PMID:5141271, PMID:9843000 ; - oboInOwl:hasDbXref UMLS:C0809936 ; oboInOwl:hasExactSynonym "ESWS", "brachioskeletogenital syndrome", "bsg syndrome", "elsahy-waters syndrome", "hypospadias, hypertelorism, upper 51d coloboma, and mixed-type hearing loss" ; + skos:exactMatch UMLS:C0809936 ; biolink:category biolink:Disease . OMIM:211530 a owl:Class ; @@ -397544,12 +414023,12 @@ OMIM:211530 a owl:Class ; PMID:5563586, PMID:5969547, PMID:7229669 ; - oboInOwl:hasDbXref UMLS:C0796274 ; oboInOwl:hasExactSynonym "BVVLS1", "brown-vialetto-van laere syndrome 1", "bulbar palsy, progressive, with sensorineural deafness", "pontobulbar palsy with deafness" ; rdfs:subClassOf OMIMPS:211530 ; + skos:exactMatch UMLS:C0796274 ; biolink:category biolink:Disease . OMIM:211600 a owl:Class ; @@ -397588,11 +414067,11 @@ OMIM:211600 a owl:Class ; PMID:9500542, PMID:955355, PMID:9780343 ; - oboInOwl:hasDbXref UMLS:C4551898 ; oboInOwl:hasExactSynonym "PFIC1", "byler disease", "cholestasis, progressive familial intrahepatic, 1" ; rdfs:subClassOf OMIMPS:211600 ; + skos:exactMatch UMLS:C4551898 ; biolink:category biolink:Disease . OMIM:211750 a owl:Class ; @@ -397615,20 +414094,20 @@ OMIM:211750 a owl:Class ; PMID:7546453, PMID:7625448, PMID:9098489 ; - oboInOwl:hasDbXref UMLS:C0796095 ; oboInOwl:hasExactSynonym "c syndrome", "opitz trigonocephaly syndrome", "trigonocephaly syndrome" ; + skos:exactMatch UMLS:C0796095 ; biolink:category biolink:Disease . OMIM:211800 a owl:Class ; rdfs:label "calcification of joints and arteries" ; IAO:0000142 PMID:13149051, PMID:21288095 ; - oboInOwl:hasDbXref UMLS:C1859372 ; oboInOwl:hasExactSynonym "CALJA", "arterial calcification due to deficiency of cd73", "calcification of joints and arteries" ; + skos:exactMatch UMLS:C1859372 ; biolink:category biolink:Disease . OMIM:211910 a owl:Class ; @@ -397638,11 +414117,11 @@ OMIM:211910 a owl:Class ; PMID:7681735, PMID:8116673, PMID:8533835 ; - oboInOwl:hasDbXref UMLS:C1859359, - ORPHA:1327 ; oboInOwl:hasExactSynonym "GCS1", "camptodactyly syndrome, guadalajara, iia 1", - "faciothoracoskeletal syndrome" . + "faciothoracoskeletal syndrome" ; + skos:exactMatch UMLS:C1859359, + ORPHA:1327 . OMIM:212050 a owl:Class ; rdfs:label "candidiasis, familial, 2" ; @@ -397652,12 +414131,12 @@ OMIM:212050 a owl:Class ; PMID:4562433, PMID:8160723, PMID:9835960 ; - oboInOwl:hasDbXref UMLS:C1859353 ; oboInOwl:hasExactSynonym "CANDF2", "candidiasis, familial chronic mucocutaneous, autosomal recessive", "candidiasis, familial, 2", "card9 immunodeficiency" ; rdfs:subClassOf OMIMPS:114580 ; + skos:exactMatch UMLS:C1859353 ; biolink:category biolink:Disease . OMIM:212065 a owl:Class ; @@ -397721,8 +414200,6 @@ OMIM:212065 a owl:Class ; PMID:9140401, PMID:9762608, PMID:9887379 ; - oboInOwl:hasDbXref UMLS:C0349653, - ORPHA:79318 ; oboInOwl:hasExactSynonym "CDG1A", "carbohydrate-deficient glycoprotein syndrome, iia ia, formerly", "cdg ia", @@ -397730,6 +414207,8 @@ OMIM:212065 a owl:Class ; "jaeken syndrome", "phosphomannomutase 2 deficiency" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C0349653, + ORPHA:79318 ; biolink:category biolink:Disease . OMIM:212070 a owl:Class ; @@ -397738,16 +414217,16 @@ OMIM:212070 a owl:Class ; PMID:3562474, PMID:3958137, PMID:7437116 ; - oboInOwl:hasDbXref UMLS:C0398782 ; oboInOwl:hasExactSynonym "carboxypeptidase n deficiency" ; + skos:exactMatch UMLS:C0398782 ; biolink:category biolink:Disease . OMIM:212093 a owl:Class ; rdfs:label "cardiac valvular defect, developmental" ; IAO:0000142 PMID:27799408 ; - oboInOwl:hasDbXref UMLS:C1859330 ; oboInOwl:hasExactSynonym "CVDD", "cardiac valvular defect, developmental" ; + skos:exactMatch UMLS:C1859330 ; biolink:category biolink:Disease . OMIM:212112 a owl:Class ; @@ -397764,7 +414243,6 @@ OMIM:212112 a owl:Class ; PMID:6499250, PMID:7447187, PMID:8291546 ; - oboInOwl:hasDbXref UMLS:C0796031 ; oboInOwl:hasExactSynonym "cardiogenital syndrome", "cardiomyopathy with primary testicular failure", "cardiomyopathy, congestive, with hypergonadotropic hypogonadism", @@ -397773,6 +414251,7 @@ OMIM:212112 a owl:Class ; "genital anomaly with cardiomyopathy", "malouf syndrome", "najjar syndrome" ; + skos:exactMatch UMLS:C0796031 ; biolink:category biolink:Disease . OMIM:212138 a owl:Class ; @@ -397792,10 +414271,10 @@ OMIM:212138 a owl:Class ; PMID:9323572, PMID:9399886, PMID:9544911 ; - oboInOwl:hasDbXref UMLS:C0342791 ; oboInOwl:hasExactSynonym "CACTD", "cact deficiency", "carnitine-acylcarnitine translocase deficiency" ; + skos:exactMatch UMLS:C0342791 ; biolink:category biolink:Disease . OMIM:212140 a owl:Class ; @@ -397840,8 +414319,6 @@ OMIM:212140 a owl:Class ; PMID:9826541, PMID:9837751, PMID:9916797 ; - oboInOwl:hasDbXref UMLS:C0342788, - ORPHA:158 ; oboInOwl:hasExactSynonym "CDSP", "carnitine deficiency, primary", "carnitine deficiency, systemic primary", @@ -397849,6 +414326,8 @@ OMIM:212140 a owl:Class ; "carnitine transporter, plasma-membrane, deficiency of", "carnitine uptake defect", "systemic carnitine deficiency" ; + skos:exactMatch UMLS:C0342788, + ORPHA:158 ; biolink:category biolink:Disease . OMIM:212200 a owl:Class ; @@ -397862,18 +414341,18 @@ OMIM:212200 a owl:Class ; PMID:7116644, PMID:9029640 ; RO:0002525 CHR:9606chr18q21.3 ; - oboInOwl:hasDbXref UMLS:C3495555 ; oboInOwl:hasExactSynonym "carnosinase deficiency", "carnosinemia" ; + skos:exactMatch UMLS:C3495555 ; biolink:category biolink:Disease . OMIM:212550 a owl:Class ; rdfs:label "optic disc anomalies with retinal and/or macular dystrophy" ; IAO:0000142 PMID:23167593, PMID:24702266 ; - oboInOwl:hasDbXref UMLS:C4225424 ; oboInOwl:hasExactSynonym "ODRMD", "optic disc anomalies with retinal and/or macular dystrophy" ; + skos:exactMatch UMLS:C4225424 ; biolink:category biolink:Disease . OMIM:212750 a owl:Class ; @@ -397961,12 +414440,12 @@ OMIM:212750 a owl:Class ; PMID:9648988, PMID:9659975, PMID:9894853 ; - oboInOwl:hasDbXref UMLS:C1859310 ; oboInOwl:hasExactSynonym "CELIAC1", "celiac disease, susceptibility to, 1", "celiac sprue, susceptibility to, 1", "gluten-sensitive enteropathy, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C1859310 ; biolink:category biolink:Disease . OMIM:212840 a owl:Class ; @@ -397978,12 +414457,12 @@ OMIM:212840 a owl:Class ; PMID:23656588, PMID:25841028, PMID:6813427 ; - oboInOwl:hasDbXref UMLS:C1859305 ; oboInOwl:hasExactSynonym "GDHS", "cerebellar ataxia and hypogonadotropic hypogonadism", "gordon holmes syndrome", "lhrh deficiency and ataxia", "luteinizing hormone-releasing hormone, deficiency of, with ataxia" ; + skos:exactMatch UMLS:C1859305 ; biolink:category biolink:Disease . OMIM:213000 a owl:Class ; @@ -397996,10 +414475,10 @@ OMIM:213000 a owl:Class ; PMID:2768782, PMID:31785787, PMID:3995786 ; - oboInOwl:hasDbXref UMLS:C5231391, - ORPHA:2246 ; oboInOwl:hasExactSynonym "CHEGDD", "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" ; + skos:exactMatch UMLS:C5231391, + ORPHA:2246 ; biolink:category biolink:Disease . OMIM:213200 a owl:Class ; @@ -398012,7 +414491,6 @@ OMIM:213200 a owl:Class ; PMID:26657514, PMID:5753523, PMID:5949797 ; - oboInOwl:hasDbXref UMLS:C1859298 ; oboInOwl:hasExactSynonym "SCAR2", "cerebellar granular cell hypoplasia and mental retardation, congenital", "cerebellar hypoplasia, nonprogressive norman iia", @@ -398020,16 +414498,17 @@ OMIM:213200 a owl:Class ; "cpd 3", "spinocerebellar ataxia, autosomal recessive 2" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C1859298 ; biolink:category biolink:Disease . OMIM:213400 a owl:Class ; rdfs:label "dyssynergia cerebellaris myoclonica of hunt" ; - oboInOwl:hasDbXref UMLS:C3489626 ; oboInOwl:hasExactSynonym "cerebelloparenchymal disorder 5", "dyssynergia cerebellaris myoclonica of hunt", "myoclonus and ataxia", "ramsay hunt syndrome", - "spinodentate atrophy" . + "spinodentate atrophy" ; + skos:exactMatch UMLS:C3489626 . OMIM:213700 a owl:Class ; rdfs:label "cerebrotendinous xanthomatosis" ; @@ -398068,10 +414547,10 @@ OMIM:213700 a owl:Class ; PMID:7410549, PMID:7847220, PMID:7964884 ; - oboInOwl:hasDbXref UMLS:C0238052 ; oboInOwl:hasExactSynonym "CTX", "cerebral cholesterinosis", "cerebrotendinous xanthomatosis" ; + skos:exactMatch UMLS:C0238052 ; biolink:category biolink:Disease . OMIM:214300 a owl:Class ; @@ -398086,12 +414565,12 @@ OMIM:214300 a owl:Class ; PMID:7363502, PMID:933127, PMID:9880643 ; - oboInOwl:hasDbXref UMLS:C1859209 ; oboInOwl:hasExactSynonym "KFS2", "cervical vertebral fusion, autosomal recessive", "kfs, autosomal recessive", "klippel-feil syndrome 2, autosomal recessive" ; rdfs:subClassOf OMIMPS:118100 ; + skos:exactMatch UMLS:C1859209 ; biolink:category biolink:Disease . OMIM:214450 a owl:Class ; @@ -398108,13 +414587,13 @@ OMIM:214450 a owl:Class ; PMID:19318926, PMID:707528, PMID:9207796 ; - oboInOwl:hasDbXref UMLS:C1859194 ; oboInOwl:hasExactSynonym "GS1", "griscelli syndrome with neurologic impairment", "griscelli syndrome, iia 1", "griscelli syndrome, cutaneous and neurologic iia", "partial albinism and primary neurologic disease without hemophagocytic syndrome" ; rdfs:subClassOf OMIMPS:214450 ; + skos:exactMatch UMLS:C1859194 ; biolink:category biolink:Disease . OMIM:214500 a owl:Class ; @@ -398170,9 +414649,9 @@ OMIM:214500 a owl:Class ; PMID:9215679, PMID:9215680, PMID:9606205 ; - oboInOwl:hasDbXref UMLS:C0007965 ; oboInOwl:hasExactSynonym "CHS", "chediak-higashi syndrome" ; + skos:exactMatch UMLS:C0007965 ; biolink:category biolink:Disease . OMIM:214700 a owl:Class ; @@ -398200,13 +414679,13 @@ OMIM:214700 a owl:Class ; PMID:8896562, PMID:8963897, PMID:8988888 ; - oboInOwl:hasDbXref UMLS:C0267662, - ORPHA:53689 ; oboInOwl:hasExactSynonym "DIAR1", "chloride diarrhea, congenital, finnish iia", "chloridorrhea, congenital", "diarrhea 1, secretory chloride, congenital" ; rdfs:subClassOf OMIMPS:214700 ; + skos:exactMatch UMLS:C0267662, + ORPHA:53689 ; biolink:category biolink:Disease . OMIM:214800 a owl:Class ; @@ -398267,10 +414746,10 @@ OMIM:214800 a owl:Class ; PMID:9147897, PMID:9556299, PMID:9660062 ; - oboInOwl:hasDbXref UMLS:C0265354 ; oboInOwl:hasExactSynonym "charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies", "charge syndrome", "hall-hittner syndrome" ; + skos:exactMatch UMLS:C0265354 ; biolink:category biolink:Disease . OMIM:214900 a owl:Class ; @@ -398283,11 +414762,11 @@ OMIM:214900 a owl:Class ; PMID:9350821, PMID:9605254 ; RO:0002525 CHR:9606chr15q ; - oboInOwl:hasDbXref UMLS:C0268314 ; oboInOwl:hasExactSynonym "aagenaes syndrome", "chls", "cholestasis-lymphedema syndrome", "lymphedema-cholestasis syndrome" ; + skos:exactMatch UMLS:C0268314 ; biolink:category biolink:Disease . OMIM:215100 a owl:Class ; @@ -398332,8 +414811,6 @@ OMIM:215100 a owl:Class ; PMID:9090382, PMID:9090383, PMID:987909 ; - oboInOwl:hasDbXref UMLS:C0282529, - UMLS:C1859133 ; oboInOwl:hasExactSynonym "RCDP1", "chondrodysplasia punctata, rhizomelic form", "chondrodystrophia calcificans punctata", @@ -398341,6 +414818,8 @@ OMIM:215100 a owl:Class ; "rhizomelic chondrodysplasia punctata, iia 1" ; rdfs:subClassOf OMIMPS:214100, OMIMPS:215100 ; + skos:exactMatch UMLS:C0282529, + UMLS:C1859133 ; biolink:category biolink:Disease . OMIM:215150 a owl:Class ; @@ -398356,7 +414835,6 @@ OMIM:215150 a owl:Class ; PMID:8818448, PMID:9188673, PMID:9805126 ; - oboInOwl:hasDbXref UMLS:C4520892 ; oboInOwl:hasExactSynonym "OSMEDB", "chondrodystrophy with sensorineural deafness", "nance-insley syndrome", @@ -398365,6 +414843,7 @@ OMIM:215150 a owl:Class ; "otospondylomegaepiphyseal dysplasia, autosomal recessive", "weissenbacher-zweymuller syndrome, formerly" ; rdfs:subClassOf OMIMPS:184840 ; + skos:exactMatch UMLS:C4520892 ; biolink:category biolink:Disease . OMIM:216340 a owl:Class ; @@ -398383,11 +414862,11 @@ OMIM:216340 a owl:Class ; PMID:7496176, PMID:8411078, PMID:8818450 ; - oboInOwl:hasDbXref UMLS:C1857663, - ORPHA:3472 ; oboInOwl:hasExactSynonym "YVS", "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia", "yunis-varon syndrome" ; + skos:exactMatch UMLS:C1857663, + ORPHA:3472 ; biolink:category biolink:Disease . OMIM:216400 a owl:Class ; @@ -398449,17 +414928,17 @@ OMIM:216400 a owl:Class ; PMID:887325, PMID:8876179, PMID:9443879 ; - oboInOwl:hasDbXref UMLS:C0751039 ; oboInOwl:hasExactSynonym "CSA", "Cockayne syndrome a" ; + skos:exactMatch UMLS:C0751039 ; biolink:category biolink:Disease . OMIM:216820 a owl:Class ; rdfs:label "coloboma, ocular, autosomal recessive" ; IAO:0000142 PMID:24412933, PMID:7282780 ; - oboInOwl:hasDbXref UMLS:C4011974 ; oboInOwl:hasExactSynonym "coloboma, ocular, autosomal recessive" ; + skos:exactMatch UMLS:C4011974 ; biolink:category biolink:Disease . OMIM:216900 a owl:Class ; @@ -398481,12 +414960,12 @@ OMIM:216900 a owl:Class ; PMID:9158143, PMID:9662398, PMID:9721202 ; - oboInOwl:hasDbXref UMLS:C1857618 ; oboInOwl:hasExactSynonym "ACHM2", "achromatopsia 2", "colorblindness, total", "rod monochromacy 2", "rod monochromatism 2" ; + skos:exactMatch UMLS:C1857618 ; biolink:category biolink:Disease . OMIM:217080 a owl:Class ; @@ -398497,10 +414976,10 @@ OMIM:217080 a owl:Class ; PMID:19200527, PMID:20706282, PMID:3236352 ; - oboInOwl:hasDbXref UMLS:C3495589, - ORPHA:1873 ; oboInOwl:hasExactSynonym "cone-rod dystrophy and amelogenesis imperfecta", "jalili syndrome" ; + skos:exactMatch UMLS:C3495589, + ORPHA:1873 ; biolink:category biolink:Disease . OMIM:217085 a owl:Class ; @@ -398510,10 +414989,10 @@ OMIM:217085 a owl:Class ; PMID:27158779, PMID:28289185, PMID:8733055 ; - oboInOwl:hasDbXref UMLS:C1857587, - ORPHA:1338 ; oboInOwl:hasExactSynonym "CHDTHP", "congenital heart defects, hamartomas of tongue, and polysyndactyly" ; + skos:exactMatch UMLS:C1857587, + ORPHA:1338 ; biolink:category biolink:Disease . OMIM:217090 a owl:Class ; @@ -398535,13 +415014,13 @@ OMIM:217090 a owl:Class ; PMID:9473227, PMID:9501859, PMID:9834305 ; - oboInOwl:hasDbXref UMLS:C1274789, - UMLS:C1968804, - UMLS:C4225445 ; oboInOwl:hasExactSynonym "dysplasminogenemia", "ligneous conjunctivitis", "plasminogen deficiency, iia 1", "plasminogen deficiency, iia 2" ; + skos:exactMatch UMLS:C1274789, + UMLS:C1968804, + UMLS:C4225445 ; biolink:category biolink:Disease . OMIM:217095 a owl:Class ; @@ -398565,11 +415044,6 @@ OMIM:217095 a owl:Class ; PMID:8582397, PMID:8839734, PMID:9737780 ; - oboInOwl:hasDbXref UMLS:C0013069, - UMLS:C0041207, - UMLS:C0152419, - UMLS:C0795907, - UMLS:C1857586 ; oboInOwl:hasExactSynonym "CTHM", "conotruncal anomaly face syndrome", "conotruncal heart malformations", @@ -398577,6 +415051,11 @@ OMIM:217095 a owl:Class ; "interrupted aortic arch", "persistent truncus arteriosus", "truncus arteriosus communis" ; + skos:exactMatch UMLS:C0013069, + UMLS:C0041207, + UMLS:C0152419, + UMLS:C0795907, + UMLS:C1857586 ; biolink:category biolink:Disease . OMIM:217300 a owl:Class ; @@ -398590,10 +415069,10 @@ OMIM:217300 a owl:Class ; PMID:8723718, PMID:8825624, PMID:8929947 ; - oboInOwl:hasDbXref UMLS:C1857574 ; oboInOwl:hasExactSynonym "CNA2", "cornea plana 2, autosomal recessive" ; rdfs:subClassOf OMIMPS:121400 ; + skos:exactMatch UMLS:C1857574 ; biolink:category biolink:Disease . OMIM:217700 a owl:Class ; @@ -398607,12 +415086,12 @@ OMIM:217700 a owl:Class ; PMID:3261696, PMID:3548808, PMID:4900143 ; - oboInOwl:hasDbXref UMLS:C1857569 ; oboInOwl:hasExactSynonym "CHED", "congenital hereditary endothelial dystrophy of cornea", "corneal dystrophy, congenital hereditary endothelial", "corneal endothelial dystrophy", "corneal endothelial dystrophy 2, autosomal recessive, formerly" ; + skos:exactMatch UMLS:C1857569 ; biolink:category biolink:Disease . OMIM:217800 a owl:Class ; @@ -398635,8 +415114,6 @@ OMIM:217800 a owl:Class ; PMID:6447876, PMID:8644739, PMID:8684802 ; - oboInOwl:hasDbXref UMLS:C1636149, - UMLS:C1691013 ; oboInOwl:hasExactSynonym "MCD", "corneal dystrophy, macular iia", "groenouw iia 2 corneal dystrophy", @@ -398644,6 +415121,8 @@ OMIM:217800 a owl:Class ; "macular corneal dystrophy, iia 2", "macular dystrophy, corneal", "mcdc1, formerly" ; + skos:exactMatch UMLS:C1636149, + UMLS:C1691013 ; biolink:category biolink:Disease . OMIM:218000 a owl:Class ; @@ -398662,13 +415141,13 @@ OMIM:218000 a owl:Class ; PMID:8386695, PMID:8554065, PMID:8554070 ; - oboInOwl:hasDbXref UMLS:C0795950 ; oboInOwl:hasExactSynonym "ACCPN", "agenesis of the corpus callosum with peripheral neuropathy", "andermann syndrome", "charlevoix disease", "corpus callosum, agenesis of, with neuronopathy", "polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum" ; + skos:exactMatch UMLS:C0795950 ; biolink:category biolink:Disease . OMIM:218330 a owl:Class ; @@ -398689,13 +415168,13 @@ OMIM:218330 a owl:Class ; PMID:830894, PMID:8695580, PMID:9182772 ; - oboInOwl:hasDbXref UMLS:C0432235, - ORPHA:1515 ; oboInOwl:hasExactSynonym "CED1", "cranioectodermal dysplasia 1", "levin syndrome 1", "sensenbrenner syndrome" ; rdfs:subClassOf OMIMPS:218330 ; + skos:exactMatch UMLS:C0432235, + ORPHA:1515 ; biolink:category biolink:Disease . OMIM:218700 a owl:Class ; @@ -398734,8 +415213,6 @@ OMIM:218700 a owl:Class ; PMID:9226207, PMID:9590296, PMID:9697705 ; - oboInOwl:hasDbXref UMLS:C1869118, - UMLS:C4722330 ; oboInOwl:hasExactSynonym "CHNG2", "athyreotic hypothyroidism", "hypothyroidism, athyreotic", @@ -398748,6 +415225,8 @@ OMIM:218700 a owl:Class ; "thyroid, ectopic", "thyrotropin resistance" ; rdfs:subClassOf OMIMPS:275200 ; + skos:exactMatch UMLS:C1869118, + UMLS:C4722330 ; biolink:category biolink:Disease . OMIM:219000 a owl:Class ; @@ -398787,13 +415266,13 @@ OMIM:219000 a owl:Class ; PMID:7747754, PMID:7917132, PMID:8055142 ; - oboInOwl:hasDbXref UMLS:C4551480 ; oboInOwl:hasExactSynonym "FRASRS1", "cryptophthalmos with other malformations", "cryptophthalmos-syndactyly syndrome", "fraser syndrome", "fraser syndrome 1" ; rdfs:subClassOf OMIMPS:219000 ; + skos:exactMatch UMLS:C4551480 ; biolink:category biolink:Disease . OMIM:219050 a owl:Class ; @@ -398810,9 +415289,9 @@ OMIM:219050 a owl:Class ; PMID:4389642, PMID:6116809, PMID:89356 ; - oboInOwl:hasDbXref UMLS:C0010417 ; oboInOwl:hasExactSynonym "cryptorchidism, unilateral or bilateral", "undescended testis" ; + skos:exactMatch UMLS:C0010417 ; biolink:category biolink:Disease . OMIM:219090 a owl:Class ; @@ -398823,11 +415302,11 @@ OMIM:219090 a owl:Class ; PMID:25675982, PMID:25942478, PMID:7246609 ; - oboInOwl:hasDbXref UMLS:C0221406 ; oboInOwl:hasExactSynonym "PITA4", "cushing disease, pituitary", "pituitary adenoma 4, acth-secreting" ; rdfs:subClassOf OMIMPS:102200 ; + skos:exactMatch UMLS:C0221406 ; biolink:category biolink:Disease . OMIM:219100 a owl:Class ; @@ -398856,12 +415335,12 @@ OMIM:219100 a owl:Class ; PMID:6747755, PMID:9111998, PMID:949858 ; - oboInOwl:hasDbXref UMLS:C0268351 ; oboInOwl:hasExactSynonym "ARCL1A", "arcl1", "cutis laxa, autosomal recessive", "cutis laxa, autosomal recessive, iia 1a" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C0268351 ; biolink:category biolink:Disease . OMIM:219150 a owl:Class ; @@ -398880,13 +415359,13 @@ OMIM:219150 a owl:Class ; PMID:4076251, PMID:4302249, PMID:5123306 ; - oboInOwl:hasDbXref UMLS:C0268354 ; oboInOwl:hasExactSynonym "ARCL3A", "cutis laxa, autosomal recessive, iia 3a", "cutis laxa, corneal clouding, and mental retardation", "lange barsy syndrome a", "progeroid syndrome of lange barsy" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C0268354 ; biolink:category biolink:Disease . OMIM:219500 a owl:Class ; @@ -398910,20 +415389,20 @@ OMIM:219500 a owl:Class ; PMID:5826521, PMID:6082903, PMID:7411317 ; - oboInOwl:hasDbXref UMLS:C0220993, - UMLS:C3495552, - ORPHA:212 ; oboInOwl:hasExactSynonym "cystathionase deficiency", "cystathioninuria" ; + skos:exactMatch UMLS:C0220993, + UMLS:C3495552, + ORPHA:212 ; biolink:category biolink:Disease . OMIM:219730 a owl:Class ; rdfs:label "ventriculomegaly with cystic kidney disease" ; IAO:0000142 PMID:2478019, PMID:25557780 ; - oboInOwl:hasDbXref UMLS:C1857423 ; oboInOwl:hasExactSynonym "VMCKD", "ventriculomegaly with cystic kidney disease" ; + skos:exactMatch UMLS:C1857423 ; biolink:category biolink:Disease . OMIM:219750 a owl:Class ; @@ -398935,10 +415414,10 @@ OMIM:219750 a owl:Class ; PMID:5326434, PMID:5477639, PMID:6038997 ; - oboInOwl:hasDbXref UMLS:C2931013 ; oboInOwl:hasExactSynonym "cystinosis, adult nonnephropathic", "cystinosis, benign nonnephropathic", "cystinosis, ocular nonnephropathic" ; + skos:exactMatch UMLS:C2931013 ; biolink:category biolink:Disease . OMIM:220110 a owl:Class ; @@ -398981,15 +415460,15 @@ OMIM:220110 a owl:Class ; PMID:9837813, PMID:9843204, PMID:9932961 ; - oboInOwl:hasDbXref UMLS:C0268237, - UMLS:C5435656, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN1", "cox deficiency", "cytochrome c oxidase deficiency", "mitochondrial complex 4 deficiency", "mitochondrial complex 4 deficiency, nuclear iia 1" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C0268237, + UMLS:C5435656, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:220111 a owl:Class ; @@ -399004,8 +415483,6 @@ OMIM:220111 a owl:Class ; PMID:3319345, PMID:8392290, PMID:8392291 ; - oboInOwl:hasDbXref UMLS:C1857355, - ORPHA:70472 ; oboInOwl:hasExactSynonym "MC4DN5", "cox deficiency, french canadian iia", "cox deficiency, saguenay-lac-saint-jean iia", @@ -399014,6 +415491,8 @@ OMIM:220111 a owl:Class ; "leigh syndrome, saguenay-lac-saint-jean iia", "mitochondrial complex 4 deficiency, nuclear iia 5" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C1857355, + ORPHA:70472 ; biolink:category biolink:Disease . OMIM:220120 a owl:Class ; @@ -399030,10 +415509,10 @@ OMIM:220120 a owl:Class ; PMID:6300746, PMID:6406113, PMID:972784 ; - oboInOwl:hasDbXref UMLS:C0342765 ; oboInOwl:hasExactSynonym "d-glyceric acidemia", "d-glyceric aciduria", "glycerate kinase deficiency" ; + skos:exactMatch UMLS:C0342765 ; biolink:category biolink:Disease . OMIM:220150 a owl:Class ; @@ -399052,11 +415531,11 @@ OMIM:220150 a owl:Class ; PMID:7125770, PMID:7365584, PMID:7430362 ; - oboInOwl:hasDbXref UMLS:C0473219 ; oboInOwl:hasExactSynonym "RHUC1", "dalmatian hypouricemia", "hypouricemia, renal, 1", "renal hypouricemia" ; + skos:exactMatch UMLS:C0473219 ; biolink:category biolink:Disease . OMIM:220200 a owl:Class ; @@ -399072,10 +415551,10 @@ OMIM:220200 a owl:Class ; PMID:7193825, PMID:7538262 ; RO:0002525 CHR:9606chr3q22-q24 ; - oboInOwl:hasDbXref UMLS:C0010964 ; oboInOwl:hasExactSynonym "DWS", "dandy-walker malformation", "dandy-walker syndrome" ; + skos:exactMatch UMLS:C0010964 ; biolink:category biolink:Disease . OMIM:220500 a owl:Class ; @@ -399099,7 +415578,6 @@ OMIM:220500 a owl:Class ; PMID:7287010, PMID:8256819, PMID:8500264 ; - oboInOwl:hasDbXref UMLS:C0795934 ; oboInOwl:hasExactSynonym "DOORS", "brachydactyly due to absence of distal phalanges", "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome", @@ -399107,16 +415585,17 @@ OMIM:220500 a owl:Class ; "door syndrome", "drc syndrome", "eronen syndrome" ; + skos:exactMatch UMLS:C0795934 ; biolink:category biolink:Disease . OMIM:220600 a owl:Class ; rdfs:label "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" ; IAO:0000142 PMID:22121204 ; - oboInOwl:hasDbXref UMLS:C1857344 ; oboInOwl:hasExactSynonym "SHFM1D", "deafness, congenital, with split hands and feet", "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" ; rdfs:subClassOf OMIMPS:183600 ; + skos:exactMatch UMLS:C1857344 ; biolink:category biolink:Disease . OMIM:220700 a owl:Class ; @@ -399129,9 +415608,9 @@ OMIM:221200 a owl:Class ; PMID:21298075, PMID:23543054, PMID:5660029 ; - oboInOwl:hasDbXref UMLS:C3806275 ; oboInOwl:hasExactSynonym "DFNMYP", "deafness and myopia" ; + skos:exactMatch UMLS:C3806275 ; biolink:category biolink:Disease . OMIM:221750 a owl:Class ; @@ -399141,12 +415620,12 @@ OMIM:221750 a owl:Class ; PMID:17327381, PMID:18407919, PMID:8638120 ; - oboInOwl:hasDbXref UMLS:C3489787 ; oboInOwl:hasExactSynonym "CPHD3", "deafness, sensorineural, with pituitary dwarfism", "pituitary hormone deficiency, combined, 3", "pituitary hormone deficiency, combined, with rigid cervical spine" ; rdfs:subClassOf OMIMPS:613038 ; + skos:exactMatch UMLS:C3489787 ; biolink:category biolink:Disease . OMIM:221770 a owl:Class ; @@ -399164,7 +415643,6 @@ OMIM:221770 a owl:Class ; PMID:9321763, PMID:9463329, PMID:9828133 ; - oboInOwl:hasDbXref UMLS:C4721893 ; oboInOwl:hasExactSynonym "PLOSL1", "brain-bone-fat disease", "dementia, prefrontal, with bone cysts", @@ -399174,6 +415652,7 @@ OMIM:221770 a owl:Class ; "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1", "presenile dementia with bone cysts" ; rdfs:subClassOf OMIMPS:221770 ; + skos:exactMatch UMLS:C4721893 ; biolink:category biolink:Disease . OMIM:221820 a owl:Class ; @@ -399191,7 +415670,6 @@ OMIM:221820 a owl:Class ; PMID:5339109, PMID:7936288, PMID:8614507 ; - oboInOwl:hasDbXref UMLS:C3711381 ; oboInOwl:hasExactSynonym "HDLS1", "dementia, familial, neumann iia", "gliosis, familial progressive subcortical", @@ -399200,6 +415678,7 @@ OMIM:221820 a owl:Class ; "leukoencephalopathy, hereditary diffuse, with spheroids 1", "subcortical gliosis of neumann" ; rdfs:subClassOf OMIMPS:221820 ; + skos:exactMatch UMLS:C3711381 ; biolink:category biolink:Disease . OMIM:222100 a owl:Class ; @@ -399346,8 +415825,6 @@ OMIM:222100 a owl:Class ; PMID:9794100, PMID:986004 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C0011854, - UMLS:C5435660 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus", " iia 1 diabetes mellitus 1", "T1D", @@ -399355,6 +415832,8 @@ OMIM:222100 a owl:Class ; "diabetes mellitus, insulin-dependent, 1", "insulin-dependent diabetes mellitus 1", "juvenile-onset diabetes" ; + skos:exactMatch UMLS:C0011854, + UMLS:C5435660 ; biolink:category biolink:Disease . OMIM:222400 a owl:Class ; @@ -399365,9 +415844,9 @@ OMIM:222400 a owl:Class ; PMID:2190718, PMID:9826897 ; RO:0002525 CHR:9606chr8p23.1 ; - oboInOwl:hasDbXref UMLS:C1857284 ; oboInOwl:hasExactSynonym "DIH2", "diaphragmatic hernia 2" ; + skos:exactMatch UMLS:C1857284 ; biolink:category biolink:Disease . OMIM:222470 a owl:Class ; @@ -399382,13 +415861,13 @@ OMIM:222470 a owl:Class ; PMID:8021782, PMID:9021008, PMID:9481629 ; - oboInOwl:hasDbXref UMLS:C4551982 ; oboInOwl:hasExactSynonym "THES1", "diarrhea, fatal infantile, with trichorrhexis nodosa", "diarrhea, syndromic", "the syndrome", "trichohepatoenteric syndrome 1" ; rdfs:subClassOf OMIMPS:222470 ; + skos:exactMatch UMLS:C4551982 ; biolink:category biolink:Disease . OMIM:222700 a owl:Class ; @@ -399420,10 +415899,10 @@ OMIM:222700 a owl:Class ; PMID:9199570, PMID:9887380, PMID:9931537 ; - oboInOwl:hasDbXref UMLS:C0268647 ; oboInOwl:hasExactSynonym "LPI", "dibasic amino aciduria 2", "lysinuric protein intolerance" ; + skos:exactMatch UMLS:C0268647 ; biolink:category biolink:Disease . OMIM:222748 a owl:Class ; @@ -399435,14 +415914,14 @@ OMIM:222748 a owl:Class ; PMID:9266350, PMID:9323563, PMID:9718352 ; - oboInOwl:hasDbXref UMLS:C0342803, - UMLS:C3495551, - ORPHA:38874 ; oboInOwl:hasExactSynonym "DPYSD", "dihydropyrimidinase deficiency", "dihydropyrimidinuria", "dph deficiency", "dpys deficiency" ; + skos:exactMatch UMLS:C0342803, + UMLS:C3495551, + ORPHA:38874 ; biolink:category biolink:Disease . OMIM:222765 a owl:Class ; @@ -399461,7 +415940,6 @@ OMIM:222765 a owl:Class ; PMID:8466247, PMID:9536089, PMID:9843043 ; - oboInOwl:hasDbXref UMLS:C1857242 ; oboInOwl:hasExactSynonym "RCDP2", "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency", "dhapat deficiency", @@ -399471,6 +415949,7 @@ OMIM:222765 a owl:Class ; "peroxisomal dihydroxyacetonephosphate acyltransferase deficiency", "rhizomelic chondrodysplasia punctata, iia 2" ; rdfs:subClassOf OMIMPS:215100 ; + skos:exactMatch UMLS:C1857242 ; biolink:category biolink:Disease . OMIM:222800 a owl:Class ; @@ -399487,8 +415966,6 @@ OMIM:222800 a owl:Class ; PMID:5885535, PMID:6295140, PMID:6326048 ; - oboInOwl:hasDbXref UMLS:C1291620, - ORPHA:714 ; oboInOwl:hasExactSynonym "ECYT8", "bisphosphoglycerate mutase deficiency", "bisphosphoglyceromutase deficiency", @@ -399496,6 +415973,8 @@ OMIM:222800 a owl:Class ; "diphosphoglycerate mutase deficiency of erythrocyte", "dpgm deficiency", "erythrocytosis, familial, 8" ; + skos:exactMatch UMLS:C1291620, + ORPHA:714 ; biolink:category biolink:Disease . OMIM:222900 a owl:Class ; @@ -399528,13 +416007,13 @@ OMIM:222900 a owl:Class ; PMID:8609217, PMID:8648527, PMID:8648532 ; - oboInOwl:hasDbXref UMLS:C1283620 ; oboInOwl:hasExactSynonym "CSID", "disaccharide intolerance 1", "si deficiency", "sucrase-isomaltase deficiency, congenital", "sucrose intolerance, congenital", "sucrose-isomaltose malabsorption, congenital" ; + skos:exactMatch UMLS:C1283620 ; biolink:category biolink:Disease . OMIM:223100 a owl:Class ; @@ -399591,13 +416070,13 @@ OMIM:223100 a owl:Class ; PMID:9609760, PMID:965005, PMID:9803265 ; - oboInOwl:hasDbXref UMLS:C0268181, - UMLS:C1857231 ; oboInOwl:hasExactSynonym "adult lactase deficiency", "disaccharide intolerance 3", "hypolactasia, adult iia", "lactase persistence", "lactose intolerance, adult iia" ; + skos:exactMatch UMLS:C0268181, + UMLS:C1857231 ; biolink:category biolink:Disease . OMIM:223360 a owl:Class ; @@ -399619,15 +416098,15 @@ OMIM:223360 a owl:Class ; PMID:57719, PMID:6951409, PMID:908751 ; - oboInOwl:hasDbXref UMLS:C0342687, - UMLS:C4746777, - ORPHA:230 ; oboInOwl:hasExactSynonym "ORTHYP1", "dopamine beta-hydroxylase deficiency, congenital", "noradrenaline deficiency", "norepinephrine deficiency", "orthostatic hypotension 1" ; rdfs:subClassOf OMIMPS:223360 ; + skos:exactMatch UMLS:C0342687, + UMLS:C4746777, + ORPHA:230 ; biolink:category biolink:Disease . OMIM:224050 a owl:Class ; @@ -399654,7 +416133,6 @@ OMIM:224050 a owl:Class ; PMID:4801892, PMID:7246619, PMID:852144 ; - oboInOwl:hasDbXref UMLS:C4551552 ; oboInOwl:hasExactSynonym "CAMRQ1", "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1", "cerebellar ataxia, congenital, and mental retardation, autosomal recessive", @@ -399662,6 +416140,7 @@ OMIM:224050 a owl:Class ; "cerebellar hypoplasia, vldlr-associated", "dysequilibrium syndrome" ; rdfs:subClassOf OMIMPS:224050 ; + skos:exactMatch UMLS:C4551552 ; biolink:category biolink:Disease . OMIM:224100 a owl:Class ; @@ -399690,7 +416169,6 @@ OMIM:224100 a owl:Class ; PMID:9345103, PMID:9354691, PMID:9746803 ; - oboInOwl:hasDbXref UMLS:C1306589 ; oboInOwl:hasExactSynonym "CDAN2", "anemia, congenital dyserythropoietic, iia 2", "cda, iia 2", @@ -399698,6 +416176,7 @@ OMIM:224100 a owl:Class ; "dyserythropoietic anemia, hempas iia", "hereditary erythroblastic multinuclearity with positive acidified-serum test" ; rdfs:subClassOf OMIMPS:224120 ; + skos:exactMatch UMLS:C1306589 ; biolink:category biolink:Disease . OMIM:224120 a owl:Class ; @@ -399724,13 +416203,13 @@ OMIM:224120 a owl:Class ; PMID:7426450, PMID:7725852, PMID:9545404 ; - oboInOwl:hasDbXref UMLS:C0271933 ; oboInOwl:hasExactSynonym "CDAN1A", "anemia, congenital dyserythropoietic, iia 1", "anemia, congenital dyserythropoietic, iia ia", "cda, iia ia", "dyserythropoietic anemia, congenital, iia ia" ; rdfs:subClassOf OMIMPS:224120 ; + skos:exactMatch UMLS:C0271933 ; biolink:category biolink:Disease . OMIM:224230 a owl:Class ; @@ -399744,10 +416223,10 @@ OMIM:224230 a owl:Class ; PMID:2705484, PMID:313356, PMID:3500870 ; - oboInOwl:hasDbXref UMLS:C1857144 ; oboInOwl:hasExactSynonym "DKCB1", "dyskeratosis congenita, autosomal recessive 1" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C1857144 ; biolink:category biolink:Disease . OMIM:224500 a owl:Class ; @@ -399768,11 +416247,11 @@ OMIM:224500 a owl:Class ; PMID:7436383, PMID:782203, PMID:941766 ; - oboInOwl:hasDbXref UMLS:C1857093 ; oboInOwl:hasExactSynonym "DYT2", "dystonia 2, torsion, autosomal recessive", "dystonia musculorum deformans 2" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1857093 ; biolink:category biolink:Disease . OMIM:224690 a owl:Class ; @@ -399794,14 +416273,14 @@ OMIM:224690 a owl:Class ; PMID:7710253, PMID:7981855, PMID:819054 ; - oboInOwl:hasDbXref UMLS:C1868684, - UMLS:C4552001 ; oboInOwl:hasExactSynonym "MGORS1", "ear, patella, short stature syndrome", "meier-gorlin syndrome", "meier-gorlin syndrome 1", "microtia, absent patellae, micrognathia syndrome" ; rdfs:subClassOf OMIMPS:224690 ; + skos:exactMatch UMLS:C1868684, + UMLS:C4552001 ; biolink:category biolink:Disease . OMIM:224750 a owl:Class ; @@ -399815,12 +416294,12 @@ OMIM:224750 a owl:Class ; PMID:6725680, PMID:8651714, PMID:9217219 ; - oboInOwl:hasDbXref UMLS:C1857069, - ORPHA:50944 ; oboInOwl:hasExactSynonym "SSPS", "eccrine tumors with ectodermal dysplasia", "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis", "schopf-schulz-passarge syndrome" ; + skos:exactMatch UMLS:C1857069, + ORPHA:50944 ; biolink:category biolink:Disease . OMIM:225060 a owl:Class ; @@ -399835,12 +416314,6 @@ OMIM:225060 a owl:Class ; PMID:3035184, PMID:7891379, PMID:9758630 ; - oboInOwl:hasDbXref UMLS:C1833538, - UMLS:C2931488, - ORPHA:141291, - ORPHA:199302, - ORPHA:199306, - ORPHA:3253 ; oboInOwl:hasExactSynonym "CLPED1", "cleft 51p with or without cleft palate, nonsyndromic, 7", "cleft lip/palate-ectodermal dysplasia syndrome", @@ -399850,6 +416323,12 @@ OMIM:225060 a owl:Class ; "orofacial cleft 7", "zlotogora-ogur syndrome" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1833538, + UMLS:C2931488, + ORPHA:141291, + ORPHA:199302, + ORPHA:199306, + ORPHA:3253 ; biolink:category biolink:Disease . OMIM:225100 a owl:Class ; @@ -399863,9 +416342,9 @@ OMIM:225100 a owl:Class ; PMID:22736615, PMID:2377351, PMID:3491351 ; - oboInOwl:hasDbXref UMLS:C3541474 ; oboInOwl:hasExactSynonym "ECTOL2", "ectopia lentis 2, isolated, autosomal recessive" ; + skos:exactMatch UMLS:C3541474 ; biolink:category biolink:Disease . OMIM:225410 a owl:Class ; @@ -399889,7 +416368,6 @@ OMIM:225410 a owl:Class ; PMID:7735500, PMID:8215497, PMID:8215498 ; - oboInOwl:hasDbXref UMLS:C2700425 ; oboInOwl:hasExactSynonym "EDSDERMS", "dermatosparaxis", "eds 7c", @@ -399897,6 +416375,7 @@ OMIM:225410 a owl:Class ; "ehlers-danlos syndrome, iia vii, autosomal recessive", "ehlers-danlos syndrome, dermatosparaxis iia" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C2700425 ; biolink:category biolink:Disease . OMIM:225753 a owl:Class ; @@ -399906,11 +416385,11 @@ OMIM:225753 a owl:Class ; PMID:20952379, PMID:20956791, PMID:8480512 ; - oboInOwl:hasDbXref UMLS:C1856974 ; oboInOwl:hasExactSynonym "PCH4", "encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia", "pontocerebellar hypoplasia, iia 4" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C1856974 ; biolink:category biolink:Disease . OMIM:225790 a owl:Class ; @@ -399924,15 +416403,15 @@ OMIM:225790 a owl:Class ; PMID:25677735, PMID:4555262, PMID:6852387 ; - oboInOwl:hasDbXref UMLS:C1856972, - UMLS:C3203738, - ORPHA:221126 ; oboInOwl:hasExactSynonym "PVHH", "encephaloclastic proliferative vasculopathy", "fowler syndrome", "hydranencephaly, fowler iia", "hydrocephaly/hydranencephaly due to cerebral vasculopathy", "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" ; + skos:exactMatch UMLS:C1856972, + UMLS:C3203738, + ORPHA:221126 ; biolink:category biolink:Disease . OMIM:226200 a owl:Class ; @@ -399946,10 +416425,10 @@ OMIM:226200 a owl:Class ; PMID:6347801, PMID:943355, PMID:961414 ; - oboInOwl:hasDbXref UMLS:C0268416, - ORPHA:168601 ; oboInOwl:hasExactSynonym "enterokinase deficiency", "enteropeptidase deficiency" ; + skos:exactMatch UMLS:C0268416, + ORPHA:168601 ; biolink:category biolink:Disease . OMIM:226400 a owl:Class ; @@ -399967,20 +416446,20 @@ OMIM:226400 a owl:Class ; PMID:5922271, PMID:808576, PMID:94210 ; - oboInOwl:hasDbXref UMLS:C0014522, - UMLS:C4722564 ; oboInOwl:hasExactSynonym "EV1", "epidermodysplasia verruciformis", "epidermodysplasia verruciformis, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:226400 ; + skos:exactMatch UMLS:C0014522, + UMLS:C4722564 ; biolink:category biolink:Disease . OMIM:226500 a owl:Class ; rdfs:label "epidermolysis bullosa dystrophica neurotrophica" ; - oboInOwl:hasDbXref UMLS:C0268368 ; oboInOwl:hasExactSynonym "epidermolysis bullosa dystrophica neurotrophica", "epidermolysis bullosa progressiva, recessive", "epidermolysis bullosa with congenital deafness" ; + skos:exactMatch UMLS:C0268368 ; biolink:category biolink:Disease . OMIM:226650 a owl:Class ; @@ -400010,11 +416489,6 @@ OMIM:226650 a owl:Class ; PMID:9358473, PMID:939338, PMID:9501007 ; - oboInOwl:hasDbXref UMLS:C0079301, - UMLS:C0268374, - UMLS:C2608084, - UMLS:C2673609, - UMLS:C2673610 ; oboInOwl:hasExactSynonym "JEB1A", "epidermolysis bullosa junctionalis, disentis iia", "epidermolysis bullosa junctionalis, non-herlitz iia", @@ -400026,6 +416500,11 @@ OMIM:226650 a owl:Class ; "jeb-i", "junctional epidermolysis bullosa inversa" ; rdfs:subClassOf OMIMPS:226650 ; + skos:exactMatch UMLS:C0079301, + UMLS:C0268374, + UMLS:C2608084, + UMLS:C2673609, + UMLS:C2673610 ; biolink:category biolink:Disease . OMIM:226700 a owl:Class ; @@ -400064,8 +416543,6 @@ OMIM:226700 a owl:Class ; PMID:9205497, PMID:9242513, PMID:9358473 ; - oboInOwl:hasDbXref UMLS:C0079683, - ORPHA:79404 ; oboInOwl:hasExactSynonym "JEB1B", "epidermolysis bullosa junctionalis, herlitz iia", "epidermolysis bullosa letalis", @@ -400076,6 +416553,8 @@ OMIM:226700 a owl:Class ; "herlitz-pearson-type epidermolysis bullosa", "jeb-herlitz iia" ; rdfs:subClassOf OMIMPS:226650 ; + skos:exactMatch UMLS:C0079683, + ORPHA:79404 ; biolink:category biolink:Disease . OMIM:226730 a owl:Class ; @@ -400108,8 +416587,6 @@ OMIM:226730 a owl:Class ; PMID:9583744, PMID:9674902, PMID:9792864 ; - oboInOwl:hasDbXref UMLS:C1856934, - ORPHA:79403 ; oboInOwl:hasExactSynonym "JEB5B", "aplasia cutis congenita with gastrointestinal atresia", "carmi syndrome", @@ -400121,6 +416598,8 @@ OMIM:226730 a owl:Class ; "jeb-pa", "junctional epidermolysis bullosa with pyloric atresia" ; rdfs:subClassOf OMIMPS:226650 ; + skos:exactMatch UMLS:C1856934, + ORPHA:79403 ; biolink:category biolink:Disease . OMIM:226750 a owl:Class ; @@ -400137,12 +416616,12 @@ OMIM:226750 a owl:Class ; PMID:8133980, PMID:8160757, PMID:8357021 ; - oboInOwl:hasDbXref UMLS:C0406740 ; oboInOwl:hasExactSynonym "KTZS", "epilepsy and yellow teeth", "epilepsy, dementia, and amelogenesis imperfecta", "kohlschutter syndrome", "kohlschutter-tonz syndrome" ; + skos:exactMatch UMLS:C0406740 ; biolink:category biolink:Disease . OMIM:226900 a owl:Class ; @@ -400161,13 +416640,13 @@ OMIM:226900 a owl:Class ; PMID:5703690, PMID:7887425, PMID:9449113 ; - oboInOwl:hasDbXref UMLS:C1847593 ; oboInOwl:hasExactSynonym "EDM4", "epiphyseal dysplasia, multiple, 4", "multiple epiphyseal dysplasia with bilayered patellae", "multiple epiphyseal dysplasia with clubfoot", "multiple epiphyseal dysplasia, autosomal recessive" ; rdfs:subClassOf OMIMPS:132400 ; + skos:exactMatch UMLS:C1847593 ; biolink:category biolink:Disease . OMIM:226980 a owl:Class ; @@ -400182,11 +416661,11 @@ OMIM:226980 a owl:Class ; PMID:7551159, PMID:8737981, PMID:9598721 ; - oboInOwl:hasDbXref UMLS:C0432217 ; oboInOwl:hasExactSynonym "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus", "iddm-med syndrome", "med-iddm syndrome", "wolcott-rallison syndrome" ; + skos:exactMatch UMLS:C0432217 ; biolink:category biolink:Disease . OMIM:227050 a owl:Class ; @@ -400197,10 +416676,10 @@ OMIM:227050 a owl:Class ; PMID:7136690, PMID:9510446 ; RO:0002525 CHR:9606chr19q13.2 ; - oboInOwl:hasDbXref UMLS:C0238478 ; oboInOwl:hasExactSynonym "TEC", "erythroblastopenia, transient", "transient erythroblastopenia of childhood" ; + skos:exactMatch UMLS:C0238478 ; biolink:category biolink:Disease . OMIM:227240 a owl:Class ; @@ -400209,13 +416688,13 @@ OMIM:227240 a owl:Class ; PMID:17358008, PMID:17999355, PMID:19578363 ; - oboInOwl:hasDbXref UMLS:C2673584 ; oboInOwl:hasExactSynonym "SHEP5", "skin/hair/eye pigmentation 5, black/nonblack hair", "skin/hair/eye pigmentation 5, dark/fair skin", "skin/hair/eye pigmentation 5, dark/light eyes", "skin/hair/eye pigmentation, variation in, 5" ; rdfs:subClassOf OMIMPS:227220 ; + skos:exactMatch UMLS:C2673584 ; biolink:category biolink:Disease . OMIM:227260 a owl:Class ; @@ -400233,7 +416712,6 @@ OMIM:227260 a owl:Class ; PMID:4414211, PMID:7677148, PMID:8818454 ; - oboInOwl:hasDbXref UMLS:C1744559 ; oboInOwl:hasExactSynonym "FFDD3", "bitemporal forceps marks syndrome", "facial ectodermal dysplasia", @@ -400241,6 +416719,7 @@ OMIM:227260 a owl:Class ; "focal facial dermal dysplasia, iia ii, formerly", "setleis syndrome" ; rdfs:subClassOf OMIMPS:136500 ; + skos:exactMatch UMLS:C1744559 ; biolink:category biolink:Disease . OMIM:227300 a owl:Class ; @@ -400259,12 +416738,12 @@ OMIM:227300 a owl:Class ; PMID:9045852, PMID:9045860, PMID:9546392 ; - oboInOwl:hasDbXref UMLS:C4551981 ; oboInOwl:hasExactSynonym "F5F8D1", "factor 5 and factor viii, combined deficiency of, 1", "familial multiple coagulation factor deficiency 1", "fmfd 1", "multiple coagulation factor deficiency 1" ; + skos:exactMatch UMLS:C4551981 ; biolink:category biolink:Disease . OMIM:227645 a owl:Class ; @@ -400278,12 +416757,12 @@ OMIM:227645 a owl:Class ; PMID:8704201, PMID:8789444, PMID:9272737 ; - oboInOwl:hasDbXref UMLS:C3468041 ; oboInOwl:hasExactSynonym "FANCC", "facc", "fanconi anemia, complementation group c", "fanconi pancytopenia, iia 3" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C3468041 ; biolink:category biolink:Disease . OMIM:227646 a owl:Class ; @@ -400295,13 +416774,13 @@ OMIM:227646 a owl:Class ; PMID:16135554, PMID:17436244, PMID:21568838 ; - oboInOwl:hasDbXref UMLS:C3160738 ; oboInOwl:hasExactSynonym "FANCD2", "fad2", "fanconi anemia, complementation group d", "fanconi anemia, complementation group d2", "fanconi pancytopenia, iia 4" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C3160738 ; biolink:category biolink:Disease . OMIM:228300 a owl:Class ; @@ -400319,12 +416798,12 @@ OMIM:228300 a owl:Class ; PMID:5710591, PMID:6785294, PMID:989221 ; - oboInOwl:hasDbXref UMLS:C0271582 ; oboInOwl:hasExactSynonym "HH23", "fertile eunuch syndrome", "hypogonadotropic hypogonadism 23 with or without anosmia", "pasqualini syndrome" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C0271582 ; biolink:category biolink:Disease . OMIM:228900 a owl:Class ; @@ -400334,13 +416813,13 @@ OMIM:228900 a owl:Class ; PMID:18629880, PMID:2363425, PMID:2624264 ; - oboInOwl:hasDbXref UMLS:C1856738, - ORPHA:2639 ; oboInOwl:hasExactSynonym "AMD2B", "acromesomelic dysplasia 2b", "du pan syndrome", "fibular hypoplasia and complex brachydactyly" ; rdfs:subClassOf OMIMPS:602875 ; + skos:exactMatch UMLS:C1856738, + ORPHA:2639 ; biolink:category biolink:Disease . OMIM:228930 a owl:Class ; @@ -400353,9 +416832,9 @@ OMIM:228930 a owl:Class ; PMID:7363910, PMID:9098479, PMID:9128926 ; - oboInOwl:hasDbXref UMLS:C1856728 ; oboInOwl:hasExactSynonym "fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly", "fuhrmann syndrome" ; + skos:exactMatch UMLS:C1856728 ; biolink:category biolink:Disease . OMIM:228960 a owl:Class ; @@ -400374,11 +416853,6 @@ OMIM:228960 a owl:Class ; PMID:6112306, PMID:7901207, PMID:893663 ; - oboInOwl:hasDbXref UMLS:C0272340, - UMLS:C1856719, - UMLS:C2673570, - UMLS:C2673571, - UMLS:C2673572 ; oboInOwl:hasExactSynonym "fitzgerald trait", "flaujeac trait", "high molecular weight kininogen deficiency", @@ -400387,6 +416861,11 @@ OMIM:228960 a owl:Class ; "kininogen deficiency, high molecular weight and low molecular weight", "kininogen deficiency, total", "williams trait" ; + skos:exactMatch UMLS:C0272340, + UMLS:C1856719, + UMLS:C2673570, + UMLS:C2673571, + UMLS:C2673572 ; biolink:category biolink:Disease . OMIM:228980 a owl:Class ; @@ -400395,9 +416874,9 @@ OMIM:228980 a owl:Class ; PMID:22137173, PMID:7426586, PMID:8703867 ; - oboInOwl:hasDbXref UMLS:C1856718 ; oboInOwl:hasExactSynonym "FRFB", "fleck retina, familial benign" ; + skos:exactMatch UMLS:C1856718 ; biolink:category biolink:Disease . OMIM:229050 a owl:Class ; @@ -400417,8 +416896,8 @@ OMIM:229050 a owl:Class ; PMID:4540608, PMID:4980683, PMID:5450108 ; - oboInOwl:hasDbXref UMLS:C0342705 ; oboInOwl:hasExactSynonym "folate malabsorption, hereditary" ; + skos:exactMatch UMLS:C0342705 ; biolink:category biolink:Disease . OMIM:229070 a owl:Class ; @@ -400435,11 +416914,11 @@ OMIM:229070 a owl:Class ; PMID:9280841, PMID:9624193, PMID:9806482 ; - oboInOwl:hasDbXref UMLS:C1856716 ; oboInOwl:hasExactSynonym "HH24", "follicle-stimulating hormone deficiency, isolated", "hypogonadotropic hypogonadism 24 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C1856716 ; biolink:category biolink:Disease . OMIM:229100 a owl:Class ; @@ -400456,12 +416935,12 @@ OMIM:229100 a owl:Class ; PMID:5897668, PMID:5956503, PMID:7262105 ; - oboInOwl:hasDbXref UMLS:C0268609, - ORPHA:51208 ; oboInOwl:hasExactSynonym "figlu-uria", "formiminoglutamic aciduria", "formiminotransferase deficiency", "glutamate formiminotransferase deficiency" ; + skos:exactMatch UMLS:C0268609, + ORPHA:51208 ; biolink:category biolink:Disease . OMIM:229300 a owl:Class ; @@ -400604,13 +417083,13 @@ OMIM:229300 a owl:Class ; PMID:9539351, PMID:9603975, PMID:9949201 ; - oboInOwl:hasDbXref UMLS:C1847416, - UMLS:C1856689 ; oboInOwl:hasExactSynonym "FRDA", "fa", "friedreich ataxia", "friedreich ataxia 1", "friedreich ataxia with retained reflexes" ; + skos:exactMatch UMLS:C1847416, + UMLS:C1856689 ; biolink:category biolink:Disease . OMIM:229600 a owl:Class ; @@ -400659,8 +417138,6 @@ OMIM:229600 a owl:Class ; PMID:8535439, PMID:8910943, PMID:9610797 ; - oboInOwl:hasDbXref UMLS:C0016751, - ORPHA:469 ; oboInOwl:hasExactSynonym "HFI", "aldob deficiency", "aldolase B deficiency", @@ -400668,6 +417145,8 @@ OMIM:229600 a owl:Class ; "fructose-1,6-bisphosphate aldolase B deficiency", "fructose-1-phosphate aldolase deficiency", "fructosemia" ; + skos:exactMatch UMLS:C0016751, + ORPHA:469 ; biolink:category biolink:Disease . OMIM:229700 a owl:Class ; @@ -400685,9 +417164,9 @@ OMIM:229700 a owl:Class ; PMID:7763253, PMID:7807945, PMID:9382095 ; - oboInOwl:hasDbXref UMLS:C0016756 ; oboInOwl:hasExactSynonym "FBP1D", "fructose-1,6-bisphosphatase deficiency" ; + skos:exactMatch UMLS:C0016756 ; biolink:category biolink:Disease . OMIM:229800 a owl:Class ; @@ -400697,10 +417176,10 @@ OMIM:229800 a owl:Class ; PMID:6268573, PMID:7816517, PMID:7833921 ; - oboInOwl:hasDbXref UMLS:C0268160 ; oboInOwl:hasExactSynonym "fructosuria, essential", "hepatic fructokinase deficiency", "ketohexokinase deficiency" ; + skos:exactMatch UMLS:C0268160 ; biolink:category biolink:Disease . OMIM:230000 a owl:Class ; @@ -400738,9 +417217,9 @@ OMIM:230000 a owl:Class ; PMID:9039984, PMID:9762612, PMID:991436 ; - oboInOwl:hasDbXref UMLS:C0016788 ; oboInOwl:hasExactSynonym "alpha-l-fucosidase deficiency", "fucosidosis" ; + skos:exactMatch UMLS:C0016788 ; biolink:category biolink:Disease . OMIM:230200 a owl:Class ; @@ -400761,14 +417240,14 @@ OMIM:230200 a owl:Class ; PMID:5715186, PMID:7129459, PMID:7670469 ; - oboInOwl:hasDbXref UMLS:C0268155, - ORPHA:352, - ORPHA:79237 ; oboInOwl:hasExactSynonym "GALAC2", "galactokinase deficiency", "galactosemia 2", "galk deficiency" ; rdfs:subClassOf OMIMPS:230400 ; + skos:exactMatch UMLS:C0268155, + ORPHA:352, + ORPHA:79237 ; biolink:category biolink:Disease . OMIM:230350 a owl:Class ; @@ -400797,17 +417276,17 @@ OMIM:230350 a owl:Class ; PMID:9538513, PMID:9700591, PMID:9973283 ; - oboInOwl:hasDbXref UMLS:C0751161, - ORPHA:308473, - ORPHA:308487, - ORPHA:352, - ORPHA:79238 ; oboInOwl:hasExactSynonym "GALAC3", "galactose epimerase deficiency", "galactosemia 3", "gale deficiency", "udp-galactose-4-epimerase deficiency" ; rdfs:subClassOf OMIMPS:230400 ; + skos:exactMatch UMLS:C0751161, + ORPHA:308473, + ORPHA:308487, + ORPHA:352, + ORPHA:79238 ; biolink:category biolink:Disease . OMIM:230400 a owl:Class ; @@ -400877,9 +417356,6 @@ OMIM:230400 a owl:Class ; PMID:8969739, PMID:9012409, PMID:90818 ; - oboInOwl:hasDbXref UMLS:C0268151, - ORPHA:352, - ORPHA:79239 ; oboInOwl:hasExactSynonym "GALAC1", "galactose-1-phosphate uridylyltransferase deficiency", "galactosemia 1", @@ -400887,6 +417363,9 @@ OMIM:230400 a owl:Class ; "galactosemia, duarte variant", "galt deficiency" ; rdfs:subClassOf OMIMPS:230400 ; + skos:exactMatch UMLS:C0268151, + ORPHA:352, + ORPHA:79239 ; biolink:category biolink:Disease . OMIM:230800 a owl:Class ; @@ -400967,9 +417446,6 @@ OMIM:230800 a owl:Class ; PMID:9011805, PMID:9677056, PMID:9781065 ; - oboInOwl:hasDbXref UMLS:C1961835, - ORPHA:355, - ORPHA:77259 ; oboInOwl:hasExactSynonym "GD1", "acid beta-glucosidase deficiency", "gaucher disease, iia 1", @@ -400977,6 +417453,9 @@ OMIM:230800 a owl:Class ; "gba deficiency", "gd 1", "glucocerebrosidase deficiency" ; + skos:exactMatch UMLS:C1961835, + ORPHA:355, + ORPHA:77259 ; biolink:category biolink:Disease . OMIM:231050 a owl:Class ; @@ -400997,10 +417476,10 @@ OMIM:231050 a owl:Class ; PMID:8533820, PMID:8723086, PMID:9295082 ; - oboInOwl:hasDbXref UMLS:C3278147 ; oboInOwl:hasExactSynonym "GPHYSD1", "geleophysic dysplasia 1" ; rdfs:subClassOf OMIMPS:231050 ; + skos:exactMatch UMLS:C3278147 ; biolink:category biolink:Disease . OMIM:231070 a owl:Class ; @@ -401019,12 +417498,12 @@ OMIM:231070 a owl:Class ; PMID:8213917, PMID:8723088, PMID:9018419 ; - oboInOwl:hasDbXref UMLS:C0432255, - ORPHA:2078 ; oboInOwl:hasExactSynonym "GO", "geroderma osteodysplasticum", "gerodermia osteodysplastica", "walt disney dwarfism" ; + skos:exactMatch UMLS:C0432255, + ORPHA:2078 ; biolink:category biolink:Disease . OMIM:231090 a owl:Class ; @@ -401049,15 +417528,15 @@ OMIM:231090 a owl:Class ; PMID:6251988, PMID:7675417, PMID:8096796 ; - oboInOwl:hasDbXref UMLS:C0020217, - UMLS:C0678213, - UMLS:C3463897 ; oboInOwl:hasExactSynonym "HYDM1", "gestational trophoblastic disease", "hydatidiform mole", "hydatidiform mole, complete", "hydatidiform mole, recurrent, 1" ; rdfs:subClassOf OMIMPS:231090 ; + skos:exactMatch UMLS:C0020217, + UMLS:C0678213, + UMLS:C3463897 ; biolink:category biolink:Disease . OMIM:231095 a owl:Class ; @@ -401067,11 +417546,11 @@ OMIM:231095 a owl:Class ; PMID:2715908, PMID:3385529, PMID:8444247 ; - oboInOwl:hasDbXref UMLS:C1856465, - ORPHA:1802 ; oboInOwl:hasExactSynonym "GHDD", "ghosal hematodiaphyseal dysplasia", "ghosal syndrome" ; + skos:exactMatch UMLS:C1856465, + ORPHA:1802 ; biolink:category biolink:Disease . OMIM:231530 a owl:Class ; @@ -401081,10 +417560,10 @@ OMIM:231530 a owl:Class ; PMID:16176262, PMID:1835339, PMID:8825408 ; - oboInOwl:hasDbXref UMLS:C1291230 ; oboInOwl:hasExactSynonym "3-hydroxyacyl-coa dehydrogenase deficiency", "hadh deficiency", "schad deficiency, formerly" ; + skos:exactMatch UMLS:C1291230 ; biolink:category biolink:Disease . OMIM:231670 a owl:Class ; @@ -401116,12 +417595,12 @@ OMIM:231670 a owl:Class ; PMID:8541831, PMID:8552212, PMID:8900227 ; - oboInOwl:hasDbXref UMLS:C0268595 ; oboInOwl:hasExactSynonym "GA1", "ga 1", "glutaric acidemia 1", "glutaric aciduria 1", "glutaryl-coa dehydrogenase deficiency" ; + skos:exactMatch UMLS:C0268595 ; biolink:category biolink:Disease . OMIM:231690 a owl:Class ; @@ -401130,11 +417609,11 @@ OMIM:231690 a owl:Class ; PMID:18926513, PMID:1909402, PMID:23893049 ; - oboInOwl:hasDbXref UMLS:C0342873 ; oboInOwl:hasExactSynonym "GA3", "ga 3", "glutaric aciduria 3", "glutaryl-coa oxidase deficiency" ; + skos:exactMatch UMLS:C0342873 ; biolink:category biolink:Disease . OMIM:231900 a owl:Class ; @@ -401147,9 +417626,9 @@ OMIM:231900 a owl:Class ; PMID:659603, PMID:8825653, PMID:8896573 ; - oboInOwl:hasDbXref UMLS:C1856399 ; oboInOwl:hasExactSynonym "GSSDE", "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" ; + skos:exactMatch UMLS:C1856399 ; biolink:category biolink:Disease . OMIM:231950 a owl:Class ; @@ -401157,12 +417636,12 @@ OMIM:231950 a owl:Class ; IAO:0000142 PMID:238530, PMID:29483667, PMID:7623451 ; - oboInOwl:hasDbXref UMLS:C0268524 ; oboInOwl:hasExactSynonym "gamma-glutamyltransferase deficiency", "gamma-glutamyltranspeptidase deficiency", "ggt deficiency", "glutathionuria", "gtg deficiency" ; + skos:exactMatch UMLS:C0268524 ; biolink:category biolink:Disease . OMIM:232240 a owl:Class ; @@ -401179,12 +417658,12 @@ OMIM:232240 a owl:Class ; PMID:9598717, PMID:9686363, PMID:9758626 ; - oboInOwl:hasDbXref UMLS:C0342749, - UMLS:C0342750 ; oboInOwl:hasExactSynonym "GSD1C", "glycogen storage disease ic", "glycogen storage disease id", "gsd ic" ; + skos:exactMatch UMLS:C0342749, + UMLS:C0342750 ; biolink:category biolink:Disease . OMIM:232300 a owl:Class ; @@ -401274,9 +417753,6 @@ OMIM:232300 a owl:Class ; PMID:9529346, PMID:9668092, PMID:9738873 ; - oboInOwl:hasDbXref UMLS:C0017921, - UMLS:C2931347, - ORPHA:365 ; oboInOwl:hasExactSynonym "GSD2", "acid alpha-glucosidase deficiency", "acid maltase deficiency", @@ -401287,6 +417763,9 @@ OMIM:232300 a owl:Class ; "glycogenosis, generalized, cardiac form", "gsd 2", "pompe disease" ; + skos:exactMatch UMLS:C0017921, + UMLS:C2931347, + ORPHA:365 ; biolink:category biolink:Disease . OMIM:232400 a owl:Class ; @@ -401328,12 +417807,6 @@ OMIM:232400 a owl:Class ; PMID:8990006, PMID:9032647, PMID:9412782 ; - oboInOwl:hasDbXref UMLS:C0017922, - UMLS:C1968739, - UMLS:C1968740, - UMLS:C1968741, - UMLS:C1968742, - ORPHA:366 ; oboInOwl:hasExactSynonym "GSD3", "agl deficiency", "amylo-1,6-glucosidase deficiency", @@ -401347,6 +417820,12 @@ OMIM:232400 a owl:Class ; "glycogen storage disease iiic", "glycogen storage disease iiid", "limit dextrinosis" ; + skos:exactMatch UMLS:C0017922, + UMLS:C1968739, + UMLS:C1968740, + UMLS:C1968741, + UMLS:C1968742, + ORPHA:366 ; biolink:category biolink:Disease . OMIM:232700 a owl:Class ; @@ -401359,13 +417838,13 @@ OMIM:232700 a owl:Class ; PMID:6929400, PMID:9529348, PMID:9536091 ; - oboInOwl:hasDbXref UMLS:C0017925, - ORPHA:369 ; oboInOwl:hasExactSynonym "GSD6", "glycogen storage disease 6", "gsd 6", "hers disease", "phosphorylase deficiency glycogen-storage disease of liver" ; + skos:exactMatch UMLS:C0017925, + ORPHA:369 ; biolink:category biolink:Disease . OMIM:232800 a owl:Class ; @@ -401409,13 +417888,13 @@ OMIM:232800 a owl:Class ; PMID:8880699, PMID:8889589, PMID:9389749 ; - oboInOwl:hasDbXref UMLS:C0017926 ; oboInOwl:hasExactSynonym "GSD7", "glycogen storage disease 7", "gsd 7", "muscle phosphofructokinase deficiency", "pfkm deficiency", "tarui disease" ; + skos:exactMatch UMLS:C0017926 ; biolink:category biolink:Disease . OMIM:233100 a owl:Class ; @@ -401434,12 +417913,12 @@ OMIM:233100 a owl:Class ; PMID:6524599, PMID:6828258, PMID:8282810 ; - oboInOwl:hasDbXref UMLS:C0017980, - ORPHA:69076 ; oboInOwl:hasExactSynonym "GLYS", "glycosuria, renal", "glys1", "renal glucosuria" ; + skos:exactMatch UMLS:C0017980, + ORPHA:69076 ; biolink:category biolink:Disease . OMIM:233400 a owl:Class ; @@ -401459,12 +417938,12 @@ OMIM:233400 a owl:Class ; PMID:6650568, PMID:8030674, PMID:8923934 ; - oboInOwl:hasDbXref UMLS:C4551721 ; oboInOwl:hasExactSynonym "PRLTS1", "gonadal dysgenesis, 20 type, with deafness", "ovarian dysgenesis with sensorineural deafness", "perrault syndrome 1" ; rdfs:subClassOf OMIMPS:233400 ; + skos:exactMatch UMLS:C4551721 ; biolink:category biolink:Disease . OMIM:233420 a owl:Class ; @@ -401479,25 +417958,25 @@ OMIM:233420 a owl:Class ; PMID:740033, PMID:8496317, PMID:8954063 ; - oboInOwl:hasDbXref UMLS:C1856273, - ORPHA:242 ; oboInOwl:hasExactSynonym "46,xy gonadal dysgenesis, partial or complete, dhh-related", "46,xy sex reversal 7", "46,xy sex reversal, partial or complete, dhh-related", "SRXY7", "gonadal dysgenesis, xy, male-limited" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C1856273, + ORPHA:242 ; biolink:category biolink:Disease . OMIM:233600 a owl:Class ; rdfs:label "immunodeficiency 59 and hypoglycemia" ; IAO:0000142 PMID:27913302, PMID:4168442 ; - oboInOwl:hasDbXref UMLS:C1856263 ; oboInOwl:hasExactSynonym "IMD59", "granulocytopenia with immunoglobulin abnormality", "immunodeficiency 59 and hypoglycemia" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1856263 ; biolink:category biolink:Disease . OMIM:233690 a owl:Class ; @@ -401513,8 +417992,6 @@ OMIM:233690 a owl:Class ; PMID:2770793, PMID:3980731, PMID:4384563 ; - oboInOwl:hasDbXref UMLS:C1856255, - ORPHA:379 ; oboInOwl:hasExactSynonym "CGD4", "cgd due to deficiency of the alpha subunit of cytochrome B", "cgd, autosomal recessive cytochrome b-negative", @@ -401522,6 +417999,8 @@ OMIM:233690 a owl:Class ; "granulomatous disease, chronic, autosomal recessive, 4", "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" ; rdfs:subClassOf OMIMPS:306400 ; + skos:exactMatch UMLS:C1856255, + ORPHA:379 ; biolink:category biolink:Disease . OMIM:233710 a owl:Class ; @@ -401532,8 +418011,6 @@ OMIM:233710 a owl:Class ; PMID:2848318, PMID:7795241, PMID:7903171 ; - oboInOwl:hasDbXref UMLS:C1856245, - ORPHA:379 ; oboInOwl:hasExactSynonym "CGD2", "cgd, autosomal recessive cytochrome b-positive, iia 2", "granulomatous disease, chronic, autosomal recessive, 2", @@ -401543,6 +418020,8 @@ OMIM:233710 a owl:Class ; "neutrophil cytosol factor 2 deficiency", "p67-phox deficiency" ; rdfs:subClassOf OMIMPS:306400 ; + skos:exactMatch UMLS:C1856245, + ORPHA:379 ; biolink:category biolink:Disease . OMIM:233910 a owl:Class ; @@ -401560,13 +418039,13 @@ OMIM:233910 a owl:Class ; PMID:7730309, PMID:7869202, PMID:9667588 ; - oboInOwl:hasDbXref UMLS:C0268467, - UMLS:C2673535 ; oboInOwl:hasExactSynonym "HPABH4B", "dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive", "gtp cyclohydrolase 1 deficiency", "hyperphenylalaninemia, bh4-deficient, B", "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency" ; + skos:exactMatch UMLS:C0268467, + UMLS:C2673535 ; biolink:category biolink:Disease . OMIM:234000 a owl:Class ; @@ -401598,11 +418077,11 @@ OMIM:234000 a owl:Class ; PMID:8419231, PMID:8528215, PMID:917064 ; - oboInOwl:hasDbXref UMLS:C0015526 ; oboInOwl:hasExactSynonym "f12 deficiency", "factor 12 deficiency", "haf deficiency", "hageman factor deficiency" ; + skos:exactMatch UMLS:C0015526 ; biolink:category biolink:Disease . OMIM:234200 a owl:Class ; @@ -401632,16 +418111,16 @@ OMIM:234200 a owl:Class ; PMID:7885538, PMID:8327163, PMID:8944032 ; - oboInOwl:hasDbXref UMLS:C0018523, - ORPHA:157850, - ORPHA:216866, - ORPHA:216873 ; oboInOwl:hasExactSynonym "NBIA1", "hallervorden-spatz disease", "neurodegeneration with brain iron accumulation 1", "pantothenate kinase-associated neurodegeneration", "pkan neuroaxonal dystrophy, juvenile-onset" ; rdfs:subClassOf OMIMPS:234200 ; + skos:exactMatch UMLS:C0018523, + ORPHA:157850, + ORPHA:216866, + ORPHA:216873 ; biolink:category biolink:Disease . OMIM:234810 a owl:Class ; @@ -401649,11 +418128,11 @@ OMIM:234810 a owl:Class ; IAO:0000142 PMID:24135949, PMID:24292273, PMID:3382104 ; - oboInOwl:hasDbXref UMLS:C0340848 ; oboInOwl:hasExactSynonym "PVOD2", "hemangiomatosis, familial pulmonary capillary", "pulmonary venoocclusive disease 2, autosomal recessive" ; rdfs:subClassOf OMIMPS:265450 ; + skos:exactMatch UMLS:C0340848 ; biolink:category biolink:Disease . OMIM:235000 a owl:Class ; @@ -401674,12 +418153,12 @@ OMIM:235000 a owl:Class ; PMID:9781907, PMID:9781913 ; RO:0002525 CHR:9606chr11p15 ; - oboInOwl:hasDbXref UMLS:C1856184 ; oboInOwl:hasExactSynonym "IH", "hemi-3 syndrome", "hemihyperplasia", "hemihyperplasia, isolated", "hemihypertrophy, isolated" ; + skos:exactMatch UMLS:C1856184 ; biolink:category biolink:Disease . OMIM:235200 a owl:Class ; @@ -401855,13 +418334,13 @@ OMIM:235200 a owl:Class ; PMID:9867748, PMID:9867753, PMID:9990067 ; - oboInOwl:hasDbXref UMLS:C0392514, - UMLS:C3469186 ; oboInOwl:hasExactSynonym "HFE1", "hemochromatosis", "hemochromatosis, iia 1", "hemochromatosis, hereditary" ; rdfs:subClassOf OMIMPS:235200 ; + skos:exactMatch UMLS:C0392514, + UMLS:C3469186 ; biolink:category biolink:Disease . OMIM:235510 a owl:Class ; @@ -401878,12 +418357,12 @@ OMIM:235510 a owl:Class ; PMID:2624276, PMID:7645602, PMID:8465855 ; - oboInOwl:hasDbXref UMLS:C4012050 ; oboInOwl:hasExactSynonym "HKLLS1", "hennekam lymphangiectasia-lymphedema syndrome", "hennekam lymphangiectasia-lymphedema syndrome 1", "lymphatic dysplasia, generalized" ; rdfs:subClassOf OMIMPS:235510 ; + skos:exactMatch UMLS:C4012050 ; biolink:category biolink:Disease . OMIM:235555 a owl:Class ; @@ -401898,11 +418377,11 @@ OMIM:235555 a owl:Class ; PMID:9024384, PMID:9285385, PMID:9625335 ; - oboInOwl:hasDbXref UMLS:C1856127 ; oboInOwl:hasExactSynonym "CBAS2", "bile acid synthesis defect, congenital, 2", "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" ; rdfs:subClassOf OMIMPS:607765 ; + skos:exactMatch UMLS:C1856127 ; biolink:category biolink:Disease . OMIM:235730 a owl:Class ; @@ -401941,14 +418420,14 @@ OMIM:235730 a owl:Class ; PMID:7605558, PMID:9409878, PMID:9719364 ; - oboInOwl:hasDbXref UMLS:C1856113, - ORPHA:2152, - ORPHA:261537, - ORPHA:261552 ; oboInOwl:hasExactSynonym "MOWS", "hirschsprung disease-mental retardation syndrome", "microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease", "mowat-wilson syndrome" ; + skos:exactMatch UMLS:C1856113, + ORPHA:2152, + ORPHA:261537, + ORPHA:261552 ; biolink:category biolink:Disease . OMIM:235800 a owl:Class ; @@ -401985,12 +418464,12 @@ OMIM:235800 a owl:Class ; PMID:8486363, PMID:8530107, PMID:8669938 ; - oboInOwl:hasDbXref UMLS:C0220992 ; oboInOwl:hasExactSynonym "hal deficiency", "his deficiency", "histidase deficiency", "histidine ammonia-lyase deficiency", "histidinemia" ; + skos:exactMatch UMLS:C0220992 ; biolink:category biolink:Disease . OMIM:236000 a owl:Class ; @@ -402029,10 +418508,10 @@ OMIM:236000 a owl:Class ; PMID:844915, PMID:9111426, PMID:991117 ; - oboInOwl:hasDbXref UMLS:C0019829 ; oboInOwl:hasExactSynonym "CHL", "hodgkin disease", "lymphoma, hodgkin, classic" ; + skos:exactMatch UMLS:C0019829 ; biolink:category biolink:Disease . OMIM:236100 a owl:Class ; @@ -402079,11 +418558,6 @@ OMIM:236100 a owl:Class ; PMID:9605287, PMID:9728329 ; RO:0002525 CHR:9606chr21q22.3 ; - oboInOwl:hasDbXref UMLS:C0078982, - UMLS:C0079541, - UMLS:C0266667, - UMLS:C0431363, - ORPHA:2162 ; oboInOwl:hasExactSynonym "HPE1", "arhinencephaly", "cyclopia", @@ -402092,6 +418566,11 @@ OMIM:236100 a owl:Class ; "holoprosencephaly, familial alobar", "hpe, familial" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C0078982, + UMLS:C0079541, + UMLS:C0266667, + UMLS:C0431363, + ORPHA:2162 ; biolink:category biolink:Disease . OMIM:236200 a owl:Class ; @@ -402193,13 +418672,13 @@ OMIM:236200 a owl:Class ; PMID:980060, PMID:9819703, PMID:9889017 ; - oboInOwl:hasDbXref UMLS:C0751202, - UMLS:C3150344 ; oboInOwl:hasExactSynonym "cbs deficiency", "cystathionine beta-synthase deficiency", "homocystinuria due to cystathionine beta-synthase deficiency", "homocystinuria with or without response to pyridoxine", "hyperhomocysteinemia, thrombotic, cbs-related" ; + skos:exactMatch UMLS:C0751202, + UMLS:C3150344 ; biolink:category biolink:Disease . OMIM:236500 a owl:Class ; @@ -402210,10 +418689,10 @@ OMIM:236500 a owl:Class ; PMID:3130870, PMID:6438176, PMID:9359650 ; - oboInOwl:hasDbXref UMLS:C1856053 ; oboInOwl:hasExactSynonym "MARCH", "hydranencephaly with renal aplasia-dysplasia", "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly" ; + skos:exactMatch UMLS:C1856053 ; biolink:category biolink:Disease . OMIM:236600 a owl:Class ; @@ -402235,13 +418714,13 @@ OMIM:236600 a owl:Class ; PMID:3354602, PMID:3950933, PMID:8116668 ; - oboInOwl:hasDbXref UMLS:C3887608 ; oboInOwl:hasExactSynonym "HYC1", "hydrocephalus, congenital, 1", "hydrocephalus, nonsyndromic, autosomal recessive 1, formerly", "hydrocephaly", "ventriculomegaly" ; rdfs:subClassOf OMIMPS:236600 ; + skos:exactMatch UMLS:C3887608 ; biolink:category biolink:Disease . OMIM:236670 a owl:Class ; @@ -402279,10 +418758,6 @@ OMIM:236670 a owl:Class ; PMID:8116667, PMID:950240, PMID:9511971 ; - oboInOwl:hasDbXref UMLS:C0265221, - UMLS:C4284790, - ORPHA:588, - ORPHA:899 ; oboInOwl:hasExactSynonym "MDDGA1", "cerebroocular dysplasia-muscular dystrophy syndrome", "cod-md syndrome", @@ -402291,6 +418766,10 @@ OMIM:236670 a owl:Class ; "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1", "walker-warburg syndrome or muscle-eye-brain disease, pomt1-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C0265221, + UMLS:C4284790, + ORPHA:588, + ORPHA:899 ; biolink:category biolink:Disease . OMIM:236680 a owl:Class ; @@ -402307,10 +418786,10 @@ OMIM:236680 a owl:Class ; PMID:7028327, PMID:8322817, PMID:8828988 ; - oboInOwl:hasDbXref UMLS:C1856016 ; oboInOwl:hasExactSynonym "HLS1", "hydrolethalus syndrome 1" ; rdfs:subClassOf OMIMPS:236680 ; + skos:exactMatch UMLS:C1856016 ; biolink:category biolink:Disease . OMIM:236700 a owl:Class ; @@ -402342,12 +418821,12 @@ OMIM:236700 a owl:Class ; PMID:7811428, PMID:8209897, PMID:9467007 ; - oboInOwl:hasDbXref UMLS:C0948368 ; oboInOwl:hasExactSynonym "MKKS", "hydrometrocolpos syndrome", "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation", "kaufman-mckusick syndrome", "mckusick-kaufman syndrome" ; + skos:exactMatch UMLS:C0948368 ; biolink:category biolink:Disease . OMIM:236730 a owl:Class ; @@ -402364,7 +418843,6 @@ OMIM:236730 a owl:Class ; PMID:3631137, PMID:474623, PMID:9199567 ; - oboInOwl:hasDbXref UMLS:C0403555 ; oboInOwl:hasExactSynonym "UFS1", "facial palsy, partial, with urinary abnormalities", "hydronephrosis with peculiar facial expression", @@ -402373,6 +418851,7 @@ OMIM:236730 a owl:Class ; "urofacial syndrome", "urofacial syndrome 1" ; rdfs:subClassOf OMIMPS:236730 ; + skos:exactMatch UMLS:C0403555 ; biolink:category biolink:Disease . OMIM:236792 a owl:Class ; @@ -402390,10 +418869,10 @@ OMIM:236792 a owl:Class ; PMID:6787330, PMID:7609437, PMID:7609438 ; - oboInOwl:hasDbXref UMLS:C1855995 ; oboInOwl:hasExactSynonym "L2HGA", "l-2-hydroxyglutaric acidemia", "l-2-hydroxyglutaric aciduria" ; + skos:exactMatch UMLS:C1855995 ; biolink:category biolink:Disease . OMIM:236800 a owl:Class ; @@ -402404,11 +418883,11 @@ OMIM:236800 a owl:Class ; PMID:5586569, PMID:6015911, PMID:8830173 ; - oboInOwl:hasDbXref UMLS:C0268474, - ORPHA:79155 ; oboInOwl:hasExactSynonym "hydroxykynureninuria", "kynureninase deficiency, partial", "xanthurenic aciduria" ; + skos:exactMatch UMLS:C0268474, + ORPHA:79155 ; biolink:category biolink:Disease . OMIM:237310 a owl:Class ; @@ -402425,12 +418904,12 @@ OMIM:237310 a owl:Class ; PMID:7453791, PMID:7623444, PMID:9877039 ; - oboInOwl:hasDbXref UMLS:C0268543 ; oboInOwl:hasExactSynonym "NAGSD", "hyperammonemia due to n-acetylglutamate synthetase deficiency", "n-acetylglutamate synthase deficiency", "n-acetylglutamate synthetase deficiency", "nags deficiency" ; + skos:exactMatch UMLS:C0268543 ; biolink:category biolink:Disease . OMIM:237500 a owl:Class ; @@ -402459,12 +418938,12 @@ OMIM:237500 a owl:Class ; PMID:9284939, PMID:9425227, PMID:9878557 ; - oboInOwl:hasDbXref UMLS:C0022350 ; oboInOwl:hasExactSynonym "DJS", "dubin-johnson syndrome", "hyperbilirubinemia 2", "hyperbilirubinemia, dubin-johnson iia" ; rdfs:subClassOf OMIMPS:237450 ; + skos:exactMatch UMLS:C0022350 ; biolink:category biolink:Disease . OMIM:238600 a owl:Class ; @@ -402487,8 +418966,6 @@ OMIM:238600 a owl:Class ; PMID:7382827, PMID:7752915, PMID:9738727 ; - oboInOwl:hasDbXref UMLS:C0023817, - UMLS:C1969232 ; oboInOwl:hasExactSynonym "chylomicronemia, familial", "high density lipoprotein cholesterol level quantitative trait locus 11", "hyperchylomicronemia, familial", @@ -402500,6 +418977,8 @@ OMIM:238600 a owl:Class ; "lipd deficiency", "lipoprotein lipase deficiency", "lpl deficiency" ; + skos:exactMatch UMLS:C0023817, + UMLS:C1969232 ; biolink:category biolink:Disease . OMIM:238970 a owl:Class ; @@ -402532,12 +419011,12 @@ OMIM:238970 a owl:Class ; PMID:6120052, PMID:6422148, PMID:6422153 ; - oboInOwl:hasDbXref UMLS:C0268540, - ORPHA:415 ; oboInOwl:hasExactSynonym "HHHS", "hhh syndrome", "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "ornithine translocase deficiency" ; + skos:exactMatch UMLS:C0268540, + ORPHA:415 ; biolink:category biolink:Disease . OMIM:239000 a owl:Class ; @@ -402563,7 +419042,6 @@ OMIM:239000 a owl:Class ; PMID:8053403, PMID:8770706, PMID:8797127 ; - oboInOwl:hasDbXref UMLS:C0268414 ; oboInOwl:hasExactSynonym "PDB5", "hyperostosis corticalis deformans juvenilis", "hyperphosphatasemia, chronic congenital idiopathic", @@ -402572,6 +419050,7 @@ OMIM:239000 a owl:Class ; "osteoectasia, familial", "paget disease of bone 5, juvenile-onset" ; rdfs:subClassOf OMIMPS:167250 ; + skos:exactMatch UMLS:C0268414 ; biolink:category biolink:Disease . OMIM:239300 a owl:Class ; @@ -402588,12 +419067,12 @@ OMIM:239300 a owl:Class ; PMID:29310717, PMID:3346785, PMID:5465362 ; - oboInOwl:hasDbXref UMLS:C4551502 ; oboInOwl:hasExactSynonym "HPMRS1", "glycosylphosphatidylinositol biosynthesis defect 2", "hyperphosphatasia with mental retardation syndrome 1", "mabry syndrome" ; rdfs:subClassOf OMIMPS:239300 ; + skos:exactMatch UMLS:C4551502 ; biolink:category biolink:Disease . OMIM:239510 a owl:Class ; @@ -402608,11 +419087,11 @@ OMIM:239510 a owl:Class ; PMID:5815222, PMID:956388, PMID:9700195 ; - oboInOwl:hasDbXref UMLS:C2931835 ; oboInOwl:hasExactSynonym "1-pyrroline-5-carboxylate dehydrogenase deficiency", "HYRPRO2", "hpii", "hyperprolinemia, iia 2" ; + skos:exactMatch UMLS:C2931835 ; biolink:category biolink:Disease . OMIM:239710 a owl:Class ; @@ -402622,12 +419101,12 @@ OMIM:239710 a owl:Class ; PMID:2750779, PMID:2830788, PMID:2986457 ; - oboInOwl:hasDbXref UMLS:C1855904 ; oboInOwl:hasExactSynonym "acrofrontofacionasal dysostosis 2", "acrofrontofacionasal dysostosis with genitourinary anomalies", "affn dysostosis 2", "hypertelorism, hypospadias, and polysyndactyly syndrome", - "naguib-richieri-costa syndrome" . + "naguib-richieri-costa syndrome" ; + skos:exactMatch UMLS:C1855904 . OMIM:240400 a owl:Class ; rdfs:label "hypoascorbemia" ; @@ -402646,16 +419125,17 @@ OMIM:240400 a owl:Class ; PMID:819930, PMID:8623000 ; RO:0002525 CHR:9606chr8p21.1 ; - oboInOwl:hasDbXref UMLS:C0036474, - UMLS:C1415369, - UMLS:C1855867 ; oboInOwl:hasExactSynonym "gulo, nonfunctional", "hypoascorbemia", "l-gulonolactone oxidase pseudogene", "l-gulonolactone oxidase, nonfunctional", "scurvy", "vitamin c, inability to synthesize" ; - skos:exactMatch HGNC_symbol:GULOP . + skos:exactMatch UMLS:C0036474, + UMLS:C1415369, + UMLS:C1855867, + HGNC:4695, + HGNC_symbol:GULOP . OMIM:240600 a owl:Class ; rdfs:label "glycogen storage disease 0, liver" ; @@ -402669,13 +419149,13 @@ OMIM:240600 a owl:Class ; PMID:87575, PMID:8831078, PMID:9691087 ; - oboInOwl:hasDbXref UMLS:C1855861 ; oboInOwl:hasExactSynonym "GSD0A", "glycogen storage disease 0, liver", "gsd 0a", "hypoglycemia with deficiency of glycogen synthetase 1n the liver", "liver glycogen storage disease 0", "liver glycogen synthase deficiency" ; + skos:exactMatch UMLS:C1855861 ; biolink:category biolink:Disease . OMIM:240800 a owl:Class ; @@ -402683,10 +419163,10 @@ OMIM:240800 a owl:Class ; IAO:0000142 PMID:13306783, PMID:13764666, PMID:15356046 ; - oboInOwl:hasDbXref UMLS:C0271714 ; oboInOwl:hasExactSynonym "LIH", "hypoglycemia, leucine-induced", "leucine-sensitive hypoglycemia of infancy" ; + skos:exactMatch UMLS:C0271714 ; biolink:category biolink:Disease . OMIM:240900 a owl:Class ; @@ -402694,9 +419174,9 @@ OMIM:240900 a owl:Class ; IAO:0000142 PMID:13952653, PMID:14764948, PMID:21979934 ; - oboInOwl:hasDbXref UMLS:C3278384 ; oboInOwl:hasExactSynonym "HIHGHH", "hypoinsulinemic hypoglycemia with hemihypertrophy" ; + skos:exactMatch UMLS:C3278384 ; biolink:category biolink:Disease . OMIM:241410 a owl:Class ; @@ -402712,12 +419192,12 @@ OMIM:241410 a owl:Class ; PMID:7538982, PMID:7810565, PMID:9634513 ; - oboInOwl:hasDbXref UMLS:C1855840 ; oboInOwl:hasExactSynonym "HRDS", "hypoparathyroidism with short stature, mental retardation, and seizures", "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay", "hypoparathyroidism-retardation-dysmorphism syndrome", "sanjad-sakati syndrome" ; + skos:exactMatch UMLS:C1855840 ; biolink:category biolink:Disease . OMIM:241520 a owl:Class ; @@ -402728,13 +419208,13 @@ OMIM:241520 a owl:Class ; PMID:2782942, PMID:2889114, PMID:894124 ; - oboInOwl:hasDbXref UMLS:C0342643, - UMLS:C4551495 ; oboInOwl:hasExactSynonym "ARHR1", "arhr", "hypophosphatemia, autosomal recessive", "hypophosphatemic rickets, autosomal recessive, 1" ; rdfs:subClassOf OMIMPS:193100 ; + skos:exactMatch UMLS:C0342643, + UMLS:C4551495 ; biolink:category biolink:Disease . OMIM:241530 a owl:Class ; @@ -402750,10 +419230,10 @@ OMIM:241530 a owl:Class ; PMID:521301, PMID:899927, PMID:9560283 ; - oboInOwl:hasDbXref UMLS:C1853271 ; oboInOwl:hasExactSynonym "HHRH", "hypercalciuric rickets", "hypophosphatemic rickets with hypercalciuria, hereditary" ; + skos:exactMatch UMLS:C1853271 ; biolink:category biolink:Disease . OMIM:241600 a owl:Class ; @@ -402762,13 +419242,13 @@ OMIM:241600 a owl:Class ; PMID:2254461, PMID:25702838, PMID:4186801 ; - oboInOwl:hasDbXref UMLS:C1855796 ; oboInOwl:hasExactSynonym "IMD43", "b2m deficiency", "beta-2-microglobulin deficiency", "hypoproteinemia, hypercatabolic", "immunodeficiency 43" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1855796 ; biolink:category biolink:Disease . OMIM:241800 a owl:Class ; @@ -402778,10 +419258,10 @@ OMIM:241800 a owl:Class ; PMID:18252217, PMID:30497210, PMID:32413283 ; - oboInOwl:hasDbXref UMLS:C5435677, - ORPHA:2113 ; oboInOwl:hasExactSynonym "PHLS", "pallister-hall-like syndrome" ; + skos:exactMatch UMLS:C5435677, + ORPHA:2113 ; biolink:category biolink:Disease . OMIM:242100 a owl:Class ; @@ -402798,13 +419278,13 @@ OMIM:242100 a owl:Class ; PMID:19434086, PMID:19890349, PMID:20643494 ; - oboInOwl:hasDbXref UMLS:C3888093 ; oboInOwl:hasExactSynonym "ARCI2", "collodion baby, self-healing", "ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly", "ichthyosiform erythroderma, nonbullous congenital, 1, formerly", "ichthyosis, congenital, autosomal recessive 2" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C3888093 ; biolink:category biolink:Disease . OMIM:242150 a owl:Class ; @@ -402815,14 +419295,14 @@ OMIM:242150 a owl:Class ; PMID:31630791, PMID:408455, PMID:4119872 ; - oboInOwl:hasDbXref UMLS:C1275089, - ORPHA:477 ; oboInOwl:hasExactSynonym "KIDAR", "desmons syndrome", "ichthyosiform erythroderma, corneal involvement, and deafness", "keratitis-ichthyosis-deafness syndrome, autosomal recessive", "kid syndrome, autosomal recessive" ; rdfs:subClassOf OMIMPS:148210 ; + skos:exactMatch UMLS:C1275089, + ORPHA:477 ; biolink:category biolink:Disease . OMIM:242300 a owl:Class ; @@ -402880,9 +419360,6 @@ OMIM:242300 a owl:Class ; PMID:9359043, PMID:9545389, PMID:9887377 ; - oboInOwl:hasDbXref UMLS:C1855789, - UMLS:C3536797, - UMLS:C4551630 ; oboInOwl:hasExactSynonym "ARCI1", "collodion baby, self-healing", "collodion fetus", @@ -402894,6 +419371,9 @@ OMIM:242300 a owl:Class ; "ichthyosis, lamellar, 1, formerly", "lamellar exfoliation of newborn" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C1855789, + UMLS:C3536797, + UMLS:C4551630 ; biolink:category biolink:Disease . OMIM:242500 a owl:Class ; @@ -402925,14 +419405,14 @@ OMIM:242500 a owl:Class ; PMID:9212754, PMID:935508, PMID:9621376 ; - oboInOwl:hasDbXref UMLS:C0239849, - UMLS:C0598226 ; oboInOwl:hasExactSynonym "'harlequin fetus'", "ARCI4B", "harlequin ichthyosis", "ichthyosis congenita, harlequin fetus iia", "ichthyosis, congenital, autosomal recessive 4b" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C0239849, + UMLS:C0598226 ; biolink:category biolink:Disease . OMIM:242840 a owl:Class ; @@ -402950,10 +419430,10 @@ OMIM:242840 a owl:Class ; PMID:25331754, PMID:28168853, PMID:3344762 ; - oboInOwl:hasDbXref UMLS:C1855772 ; oboInOwl:hasExactSynonym "VICIS", "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum", "vici syndrome" ; + skos:exactMatch UMLS:C1855772 ; biolink:category biolink:Disease . OMIM:242900 a owl:Class ; @@ -402981,10 +419461,10 @@ OMIM:242900 a owl:Class ; PMID:8267014, PMID:9632175, PMID:9674900 ; - oboInOwl:hasDbXref UMLS:C0877024 ; oboInOwl:hasExactSynonym "SIOD", "immunoosseous dysplasia, schimke iia", "schimke immunoosseous dysplasia" ; + skos:exactMatch UMLS:C0877024 ; biolink:category biolink:Disease . OMIM:243060 a owl:Class ; @@ -402995,12 +419475,12 @@ OMIM:243060 a owl:Class ; PMID:19062000, PMID:19147683, PMID:21733974 ; - oboInOwl:hasDbXref UMLS:C0403812 ; oboInOwl:hasExactSynonym "SPGF5", "infertility associated with multitailed spermatozoa and excessive DNA", "male infertility with large-headed, multiflagellar, polyploid spermatozoa", "spermatogenic failure 5" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C0403812 ; biolink:category biolink:Disease . OMIM:243150 a owl:Class ; @@ -403027,13 +419507,13 @@ OMIM:243150 a owl:Class ; PMID:6687294, PMID:7438502, PMID:7554349 ; - oboInOwl:hasDbXref UMLS:C0220744 ; oboInOwl:hasExactSynonym "GIDID1", "familial intestinal polyatresia syndrome", "gastrointestinal defects and immunodeficiency syndrome 1", "intestinal atresia, multiple", "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency" ; rdfs:subClassOf OMIMPS:243150 ; + skos:exactMatch UMLS:C0220744 ; biolink:category biolink:Disease . OMIM:243400 a owl:Class ; @@ -403084,10 +419564,6 @@ OMIM:243400 a owl:Class ; PMID:92167, PMID:9660060, PMID:9918135 ; - oboInOwl:hasDbXref UMLS:C0878587, - UMLS:C2673468, - UMLS:C2673469, - UMLS:C2673470 ; oboInOwl:hasExactSynonym "acetylation, fast", "acetylation, slow", "fast acetylator phenotype", @@ -403095,6 +419571,10 @@ OMIM:243400 a owl:Class ; "inh inactivation, slow", "isoniazid inactivation, slow", "slow acetylator phenotype" ; + skos:exactMatch UMLS:C0878587, + UMLS:C2673468, + UMLS:C2673469, + UMLS:C2673470 ; biolink:category biolink:Disease . OMIM:243500 a owl:Class ; @@ -403119,11 +419599,11 @@ OMIM:243500 a owl:Class ; PMID:6928646, PMID:7195490, PMID:7367115 ; - oboInOwl:hasDbXref UMLS:C0268575 ; oboInOwl:hasExactSynonym "IVA", "isovaleric acid coa dehydrogenase deficiency", "isovaleric acidemia", "ivd deficiency" ; + skos:exactMatch UMLS:C0268575 ; biolink:category biolink:Disease . OMIM:243700 a owl:Class ; @@ -403134,12 +419614,12 @@ OMIM:243700 a owl:Class ; PMID:18337720, PMID:19776401, PMID:5059313 ; - oboInOwl:hasDbXref UMLS:C4722305 ; oboInOwl:hasExactSynonym "HIES2", "hies, autosomal recessive", "hyper-ige recurrent infection syndrome 2, autosomal recessive", "hyper-ige syndrome, autosomal recessive" ; rdfs:subClassOf OMIMPS:147060 ; + skos:exactMatch UMLS:C4722305 ; biolink:category biolink:Disease . OMIM:244200 a owl:Class ; @@ -403148,10 +419628,10 @@ OMIM:244200 a owl:Class ; PMID:17761590, PMID:18559922, PMID:21247312 ; - oboInOwl:hasDbXref UMLS:C3550478 ; oboInOwl:hasExactSynonym "HH3", "hypogonadotropic hypogonadism 3 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3550478 ; biolink:category biolink:Disease . OMIM:244460 a owl:Class ; @@ -403162,12 +419642,12 @@ OMIM:244460 a owl:Class ; PMID:7406361, PMID:9475091, PMID:9806825 ; - oboInOwl:hasDbXref UMLS:C1855648 ; oboInOwl:hasExactSynonym "KCS1", "kcs", "kenny-caffey syndrome, iia 1", "kenny-caffey syndrome, autosomal recessive" ; rdfs:subClassOf OMIMPS:127000 ; + skos:exactMatch UMLS:C1855648 ; biolink:category biolink:Disease . OMIM:245050 a owl:Class ; @@ -403183,14 +419663,14 @@ OMIM:245050 a owl:Class ; PMID:8751852, PMID:8844009, PMID:9521962 ; - oboInOwl:hasDbXref UMLS:C0342792, - ORPHA:832 ; oboInOwl:hasExactSynonym "SCOTD", "ketoacidosis due to scot deficiency", "scot deficiency", "succinyl-coa:3-ketoacid coa-transferase deficiency", "succinyl-coa:3-oxoacid-coa transferase deficiency", "succinyl-coa:acetoacetate transferase deficiency" ; + skos:exactMatch UMLS:C0342792, + ORPHA:832 ; biolink:category biolink:Disease . OMIM:245150 a owl:Class ; @@ -403205,10 +419685,10 @@ OMIM:245150 a owl:Class ; PMID:9052783, PMID:9674914, PMID:9916809 ; - oboInOwl:hasDbXref UMLS:C1855607 ; oboInOwl:hasExactSynonym "KTLS", "keutel syndrome", "pulmonic stenosis, brachytelephalangism, and calcification of cartilages" ; + skos:exactMatch UMLS:C1855607 ; biolink:category biolink:Disease . OMIM:245200 a owl:Class ; @@ -403278,7 +419758,6 @@ OMIM:245200 a owl:Class ; PMID:9449482, PMID:9545360, PMID:9987921 ; - oboInOwl:hasDbXref UMLS:C0023521 ; oboInOwl:hasExactSynonym "KRB", "galactocerebrosidase deficiency", "galactosylceramide beta-galactosidase deficiency", @@ -403286,6 +419765,7 @@ OMIM:245200 a owl:Class ; "globoid cell leukodystrophy", "globoid cell leukoencephalopathy", "krabbe disease" ; + skos:exactMatch UMLS:C0023521 ; biolink:category biolink:Disease . OMIM:245300 a owl:Class ; @@ -403307,8 +419787,8 @@ OMIM:245300 a owl:Class ; PMID:6015529, PMID:8154865, PMID:9789072 ; - oboInOwl:hasDbXref UMLS:C1855588 ; oboInOwl:hasExactSynonym "kuru, susceptibility to" ; + skos:exactMatch UMLS:C1855588 ; biolink:category biolink:Disease . OMIM:245348 a owl:Class ; @@ -403316,11 +419796,11 @@ OMIM:245348 a owl:Class ; IAO:0000142 PMID:16049940, PMID:2112155, PMID:29093066 ; - oboInOwl:hasDbXref UMLS:C1855565 ; oboInOwl:hasExactSynonym "PDHDD", "lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex", "pyruvate dehydrogenase e2 deficiency" ; rdfs:subClassOf OMIMPS:312170 ; + skos:exactMatch UMLS:C1855565 ; biolink:category biolink:Disease . OMIM:245349 a owl:Class ; @@ -403337,11 +419817,11 @@ OMIM:245349 a owl:Class ; PMID:8584393, PMID:9399911, PMID:9501264 ; - oboInOwl:hasDbXref UMLS:C1855553 ; oboInOwl:hasExactSynonym "PDHXD", "lactic acidemia due to defect 1n lipoyl-containing component 10 of the pyruvate dehydrogenase complex", "pyruvate dehydrogenase e3-binding protein deficiency" ; rdfs:subClassOf OMIMPS:312170 ; + skos:exactMatch UMLS:C1855553 ; biolink:category biolink:Disease . OMIM:245400 a owl:Class ; @@ -403356,11 +419836,11 @@ OMIM:245400 a owl:Class ; PMID:5829993, PMID:6050895, PMID:6440113 ; - oboInOwl:hasDbXref UMLS:C3151476 ; oboInOwl:hasExactSynonym "MTDPS9", "lactic acidosis, fatal infantile, formerly", "mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria)" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C3151476 ; biolink:category biolink:Disease . OMIM:245450 a owl:Class ; @@ -403368,11 +419848,11 @@ OMIM:245450 a owl:Class ; IAO:0000142 PMID:30931947, PMID:31638601, PMID:832430 ; - oboInOwl:hasDbXref UMLS:C5193006 ; oboInOwl:hasExactSynonym "DLACD", "d-lactic aciduria with gout", "gout, susceptibility to, 5", "uric acid concentration, serum, quantitative trait locus 7" ; + skos:exactMatch UMLS:C5193006 ; biolink:category biolink:Disease . OMIM:245480 a owl:Class ; @@ -403384,12 +419864,12 @@ OMIM:245480 a owl:Class ; PMID:4129798, PMID:6155073, PMID:7088114 ; - oboInOwl:hasDbXref UMLS:C4551556 ; oboInOwl:hasExactSynonym "SGD1", "lactoferrin-deficient neutrophils", "neutrophil lactoferrin deficiency", "specific granule deficiency 1" ; rdfs:subClassOf OMIMPS:245480 ; + skos:exactMatch UMLS:C4551556 ; biolink:category biolink:Disease . OMIM:245600 a owl:Class ; @@ -403405,11 +419885,11 @@ OMIM:245600 a owl:Class ; PMID:31988067, PMID:4626580, PMID:6655668 ; - oboInOwl:hasDbXref UMLS:C3278404, - ORPHA:284139 ; oboInOwl:hasExactSynonym "JDSCD", "larsen syndrome, autosomal recessive, formerly", "multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" ; + skos:exactMatch UMLS:C3278404, + ORPHA:284139 ; biolink:category biolink:Disease . OMIM:245660 a owl:Class ; @@ -403418,11 +419898,11 @@ OMIM:245660 a owl:Class ; PMID:1342856, PMID:1800173, PMID:8185366 ; - oboInOwl:hasDbXref UMLS:C1328355 ; oboInOwl:hasExactSynonym "JEB2C", "epidermolysis bullosa, junctional 2c, laryngoonychocutaneous", "laryngoonychocutaneous syndrome", "logic syndrome" ; + skos:exactMatch UMLS:C1328355 ; biolink:category biolink:Disease . OMIM:245900 a owl:Class ; @@ -403454,10 +419934,10 @@ OMIM:245900 a owl:Class ; PMID:9054454, PMID:9188474, PMID:9884427 ; - oboInOwl:hasDbXref UMLS:C0023195 ; oboInOwl:hasExactSynonym "lcat deficiency", "lecithin:cholesterol acyltransferase deficiency", "norum disease" ; + skos:exactMatch UMLS:C0023195 ; biolink:category biolink:Disease . OMIM:246450 a owl:Class ; @@ -403487,13 +419967,13 @@ OMIM:246450 a owl:Class ; PMID:91680, PMID:9463337, PMID:9817922 ; - oboInOwl:hasDbXref UMLS:C0268601 ; oboInOwl:hasExactSynonym "3-hydroxy-3-methylglutaryl-coa lyase deficiency", "HMGCLD", "hl deficiency", "hmg-coa lyase deficiency", "hmgcl deficiency", "hydroxymethylglutaric aciduria" ; + skos:exactMatch UMLS:C0268601 ; biolink:category biolink:Disease . OMIM:246530 a owl:Class ; @@ -403514,12 +419994,13 @@ OMIM:246530 a owl:Class ; PMID:9466979 ; RO:0002525 CHR:9606chr5q35.3 ; RO:0003303 OMIM:614037 ; - oboInOwl:hasDbXref UMLS:C1416932 ; oboInOwl:hasExactSynonym "LTC4S", "leukotriene c4 synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4056 ; - skos:exactMatch HGNC_symbol:LTC4S ; + skos:exactMatch UMLS:C1416932, + HGNC:6719, + HGNC_symbol:LTC4S ; biolink:category biolink:Gene . OMIM:246560 a owl:Class ; @@ -403547,13 +420028,13 @@ OMIM:246560 a owl:Class ; PMID:8723077, PMID:9004130 ; RO:0002525 CHR:9606chr10q24 ; - oboInOwl:hasDbXref UMLS:C1838652 ; oboInOwl:hasExactSynonym "SHFM3", "chromosome 10q24 duplication syndrome", "limb deficiencies, distal, with micrognathia", "shsf3", "split-hand/foot malformation 3" ; rdfs:subClassOf OMIMPS:183600 ; + skos:exactMatch UMLS:C1838652 ; biolink:category biolink:Disease . OMIM:246650 a owl:Class ; @@ -403563,11 +420044,11 @@ OMIM:246650 a owl:Class ; PMID:19820022, PMID:2211673, PMID:6857276 ; - oboInOwl:hasDbXref UMLS:C1855498 ; oboInOwl:hasExactSynonym "lipase deficiency, combined", "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency", "lpl and hl deficiency", "lpl and htgl deficiency" ; + skos:exactMatch UMLS:C1855498 ; biolink:category biolink:Disease . OMIM:246900 a owl:Class ; @@ -403586,7 +420067,6 @@ OMIM:246900 a owl:Class ; PMID:8652022, PMID:8968745, PMID:9934985 ; - oboInOwl:hasDbXref UMLS:C0268193 ; oboInOwl:hasExactSynonym "DLDD", "dihydrolipoamide dehydrogenase deficiency", "dld deficiency", @@ -403594,6 +420074,7 @@ OMIM:246900 a owl:Class ; "lipoamide dehydrogenase deficiency, lactic acidosis due to", "maple syrup urine disease, iia 3" ; rdfs:subClassOf OMIMPS:248600 ; + skos:exactMatch UMLS:C0268193 ; biolink:category biolink:Disease . OMIM:247100 a owl:Class ; @@ -403622,11 +420103,11 @@ OMIM:247100 a owl:Class ; PMID:7462673, PMID:751090, PMID:7990957 ; - oboInOwl:hasDbXref UMLS:C0023795 ; oboInOwl:hasExactSynonym "hyalinosis cutis et mucosae", "lipoid proteinosis", "lipoid proteinosis of urbach and wiethe", "urbach-wiethe disease" ; + skos:exactMatch UMLS:C0023795 ; biolink:category biolink:Disease . OMIM:247640 a owl:Class ; @@ -403634,10 +420115,10 @@ OMIM:247640 a owl:Class ; IAO:0000142 PMID:3925340, PMID:6785752 ; RO:0002525 CHR:9606chr9p22-p21 ; - oboInOwl:hasDbXref UMLS:C1855472 ; oboInOwl:hasExactSynonym "LALL", "lymphoblastic leukemia, acute, with lymphomatous features", - "lymphomatous all" . + "lymphomatous all" ; + skos:exactMatch UMLS:C1855472 . OMIM:248000 a owl:Class ; rdfs:label "macrocephaly/megalencephaly syndrome, autosomal recessive" ; @@ -403646,9 +420127,9 @@ OMIM:248000 a owl:Class ; PMID:18629877, PMID:23687350, PMID:24515783 ; - oboInOwl:hasDbXref UMLS:C3806412 ; oboInOwl:hasExactSynonym "MGCPH", "macrocephaly/megalencephaly syndrome, autosomal recessive" ; + skos:exactMatch UMLS:C3806412 ; biolink:category biolink:Disease . OMIM:248190 a owl:Class ; @@ -403658,7 +420139,6 @@ OMIM:248190 a owl:Class ; PMID:27530400, PMID:500385, PMID:7947033 ; - oboInOwl:hasDbXref UMLS:C4721891 ; oboInOwl:hasExactSynonym "HOMG5", "fhhnc with severe ocular involvement", "hypomagnesemia 5, renal, with or without ocular involvement", @@ -403666,6 +420146,7 @@ OMIM:248190 a owl:Class ; "hypomagnesemia, renal, with ocular involvement", "macular coloboma, bilateral, with hypercalciuria" ; rdfs:subClassOf OMIMPS:602014 ; + skos:exactMatch UMLS:C4721891 ; biolink:category biolink:Disease . OMIM:248250 a owl:Class ; @@ -403691,8 +420172,6 @@ OMIM:248250 a owl:Class ; PMID:668721, PMID:7637271, PMID:9579153 ; - oboInOwl:hasDbXref UMLS:C0268448, - UMLS:C3151482 ; oboInOwl:hasExactSynonym "HOMG3", "hypercalciuria, childhood, self-limiting", "hypomagnesemia 3, renal", @@ -403700,6 +420179,8 @@ OMIM:248250 a owl:Class ; "hypomagnesemia, isolated renal", "hypomagnesemia, primary, due to defect 1n renal tubular transport of magnesium" ; rdfs:subClassOf OMIMPS:602014 ; + skos:exactMatch UMLS:C0268448, + UMLS:C3151482 ; biolink:category biolink:Disease . OMIM:248300 a owl:Class ; @@ -403715,11 +420196,11 @@ OMIM:248300 a owl:Class ; PMID:4281438, PMID:5367495, PMID:9887370 ; - oboInOwl:hasDbXref UMLS:C0025221 ; oboInOwl:hasExactSynonym "MDM", "keratosis palmoplantaris transgrediens of siemens", "mal lange meleda", "meleda disease" ; + skos:exactMatch UMLS:C0025221 ; biolink:category biolink:Disease . OMIM:248310 a owl:Class ; @@ -403730,10 +420211,10 @@ OMIM:248310 a owl:Class ; PMID:9660449, PMID:9683598 ; RO:0002525 CHR:9606chr5q31-q33 ; - oboInOwl:hasDbXref UMLS:C1855456 ; oboInOwl:hasExactSynonym "pfbi", "plasmodium falciparum blood infection level", "plasmodium falciparum parasitemia" ; + skos:exactMatch UMLS:C1855456 ; biolink:category biolink:Disease . OMIM:248340 a owl:Class ; @@ -403749,12 +420230,12 @@ OMIM:248340 a owl:Class ; PMID:7573149, PMID:8851768, PMID:8933348 ; - oboInOwl:hasDbXref UMLS:C0796032 ; oboInOwl:hasExactSynonym "3MC3", "3mc syndrome 3", "facial clefting syndrome, gypsy iia", "malpuech facial clefting syndrome, formerly" ; rdfs:subClassOf OMIMPS:257920 ; + skos:exactMatch UMLS:C0796032 ; biolink:category biolink:Disease . OMIM:248360 a owl:Class ; @@ -403768,9 +420249,9 @@ OMIM:248360 a owl:Class ; PMID:6145813, PMID:8259873, PMID:9869665 ; - oboInOwl:hasDbXref UMLS:C0342793, - ORPHA:943 ; oboInOwl:hasExactSynonym "malonyl-coa decarboxylase deficiency" ; + skos:exactMatch UMLS:C0342793, + ORPHA:943 ; biolink:category biolink:Disease . OMIM:248370 a owl:Class ; @@ -403805,13 +420286,13 @@ OMIM:248370 a owl:Class ; PMID:7317281, PMID:7735501, PMID:8957511 ; - oboInOwl:hasDbXref UMLS:C0432291 ; oboInOwl:hasExactSynonym "MADA", "craniomandibular dermatodysostosis", "lipodystrophy, iia a, associated with mandibuloacral dysplasia", "mandibuloacral dysplasia with iia a lipodystrophy", "mandibuloacral dysplasia with iia a lipodystrophy, atypical" ; rdfs:subClassOf OMIMPS:248370 ; + skos:exactMatch UMLS:C0432291 ; biolink:category biolink:Disease . OMIM:248390 a owl:Class ; @@ -403819,11 +420300,11 @@ OMIM:248390 a owl:Class ; IAO:0000142 PMID:11013442, PMID:21131976, PMID:8362908 ; - oboInOwl:hasDbXref UMLS:C1855433 ; oboInOwl:hasExactSynonym "TCS3", "mandibulofacial dysostosis, treacher collins type, autosomal recessive", "treacher collins syndrome 3" ; rdfs:subClassOf OMIMPS:154500 ; + skos:exactMatch UMLS:C1855433 ; biolink:category biolink:Disease . OMIM:248500 a owl:Class ; @@ -403878,15 +420359,15 @@ OMIM:248500 a owl:Class ; PMID:9758606, PMID:9915946, PMID:995502 ; - oboInOwl:hasDbXref UMLS:C0024748, - ORPHA:309282, - ORPHA:309288, - ORPHA:61 ; oboInOwl:hasExactSynonym "MANSA", "alpha-mannosidase B deficiency", "alpha-mannosidosis", "lysosomal alpha-d-mannosidase deficiency", "mannosidosis, alpha b, lysosomal" ; + skos:exactMatch UMLS:C0024748, + ORPHA:309282, + ORPHA:309288, + ORPHA:61 ; biolink:category biolink:Disease . OMIM:248510 a owl:Class ; @@ -403912,12 +420393,12 @@ OMIM:248510 a owl:Class ; PMID:8859034, PMID:8921369, PMID:9384606 ; - oboInOwl:hasDbXref UMLS:C4048196 ; oboInOwl:hasExactSynonym "MANSB", "beta-mannosidase deficiency", "beta-mannosidosis", "lysosomal beta-mannosidase deficiency", "mannosidosis, beta a, lysosomal" ; + skos:exactMatch UMLS:C4048196 ; biolink:category biolink:Disease . OMIM:248900 a owl:Class ; @@ -403925,11 +420406,11 @@ OMIM:248900 a owl:Class ; IAO:0000142 PMID:14564668, PMID:24451228, PMID:6024251 ; - oboInOwl:hasDbXref UMLS:C1855346, - ORPHA:101001 ; oboInOwl:hasExactSynonym "mast syndrome", "spastic paraplegia 21, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1855346, + ORPHA:101001 ; biolink:category biolink:Disease . OMIM:249000 a owl:Class ; @@ -403991,8 +420472,6 @@ OMIM:249000 a owl:Class ; PMID:9385376, PMID:9391891, PMID:9880209 ; - oboInOwl:hasDbXref UMLS:C3714506, - ORPHA:564 ; oboInOwl:hasExactSynonym "MKS1", "dysencephalia splanchnocystica", "gruber syndrome", @@ -404002,6 +420481,8 @@ OMIM:249000 a owl:Class ; "meckel-gruber syndrome, iia 1", "mes" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C3714506, + ORPHA:564 ; biolink:category biolink:Disease . OMIM:249210 a owl:Class ; @@ -404050,8 +420531,6 @@ OMIM:249270 a owl:Class ; PMID:9399900, PMID:9734663, PMID:9856490 ; - oboInOwl:hasDbXref UMLS:C0342287, - ORPHA:49827 ; oboInOwl:hasExactSynonym "TRMA", "megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness", "rogers syndrome", @@ -404060,6 +420539,8 @@ OMIM:249270 a owl:Class ; "thiamine-responsive megaloblastic anemia syndrome", "thiamine-responsive myelodysplasia" ; rdfs:subClassOf OMIMPS:249270 ; + skos:exactMatch UMLS:C0342287, + ORPHA:49827 ; biolink:category biolink:Disease . OMIM:249500 a owl:Class ; @@ -404073,11 +420554,11 @@ OMIM:249500 a owl:Class ; PMID:14424476, PMID:14454004, PMID:20327225 ; - oboInOwl:hasDbXref UMLS:C1855304 ; oboInOwl:hasExactSynonym "MRT1", "intellectual developmental disorder, autosomal recessive 1", "mental retardation, autosomal recessive 1" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1855304 ; biolink:category biolink:Disease . OMIM:250100 a owl:Class ; @@ -404171,11 +420652,6 @@ OMIM:250100 a owl:Class ; PMID:930929, PMID:961798, PMID:9888390 ; - oboInOwl:hasDbXref UMLS:C0023522, - UMLS:C0751276, - UMLS:C0751278, - UMLS:C0751279, - UMLS:C1855255 ; oboInOwl:hasExactSynonym "MLD", "arsa deficiency", "arylsulfatase a deficiency", @@ -404188,6 +420664,11 @@ OMIM:250100 a owl:Class ; "metachromatic leukoencephalopathy", "pseudoarylsulfatase a deficiency", "sulfatide lipidosis" ; + skos:exactMatch UMLS:C0023522, + UMLS:C0751276, + UMLS:C0751278, + UMLS:C0751279, + UMLS:C1855255 ; biolink:category biolink:Disease . OMIM:250220 a owl:Class ; @@ -404200,13 +420681,13 @@ OMIM:250220 a owl:Class ; PMID:3565474, PMID:7211944, PMID:9556300 ; - oboInOwl:hasDbXref UMLS:C1855229, - ORPHA:93317 ; oboInOwl:hasExactSynonym "SMDS", "metaphyseal chondrodysplasia, congenital lethal", "sedaghatian chondrodysplasia", "spondylometaphyseal dysplasia, sedaghatian iia" ; rdfs:subClassOf OMIMPS:184255 ; + skos:exactMatch UMLS:C1855229, + ORPHA:93317 ; biolink:category biolink:Disease . OMIM:250400 a owl:Class ; @@ -404217,10 +420698,10 @@ OMIM:250400 a owl:Class ; PMID:2225533, PMID:24648384, PMID:24781753 ; - oboInOwl:hasDbXref UMLS:C0432225 ; oboInOwl:hasExactSynonym "MDST", "metaphyseal chondrodysplasia, spahr iia", "metaphyseal dysplasia, spahr iia" ; + skos:exactMatch UMLS:C0432225 ; biolink:category biolink:Disease . OMIM:250410 a owl:Class ; @@ -404228,21 +420709,21 @@ OMIM:250410 a owl:Class ; IAO:0000142 PMID:10420199, PMID:28285769, PMID:7252997 ; - oboInOwl:hasDbXref UMLS:C1855188 ; oboInOwl:hasExactSynonym "RPSKA", "metaphyseal chondrodysplasia with retinitis pigmentosa", "retinitis pigmentosa with or without skeletal anomalies" ; + skos:exactMatch UMLS:C1855188 ; biolink:category biolink:Disease . OMIM:250460 a owl:Class ; rdfs:label "metaphyseal dysplasia without hypotrichosis" ; IAO:0000142 PMID:11940090, PMID:2277385 ; - oboInOwl:hasDbXref UMLS:C1834821 ; oboInOwl:hasExactSynonym "MDWH", "cartilage-hair hypoplasia variant, skeletal manifestations only", "cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency", "metaphyseal dysplasia without hypotrichosis" ; + skos:exactMatch UMLS:C1834821 ; biolink:category biolink:Disease . OMIM:250620 a owl:Class ; @@ -404253,7 +420734,6 @@ OMIM:250620 a owl:Class ; PMID:26026795, PMID:26163321, PMID:7122152 ; - oboInOwl:hasDbXref UMLS:C0342738 ; oboInOwl:hasExactSynonym "3-hydroxyisobutyryl-coa hydrolase deficiency", "HIBCHD", "beta-hydroxyisobutyryl coa deacylase deficiency", @@ -404261,6 +420741,7 @@ OMIM:250620 a owl:Class ; "methacrylic acid toxicity", "methacrylic aciduria", "valine metabolic defect" ; + skos:exactMatch UMLS:C0342738 ; biolink:category biolink:Disease . OMIM:250800 a owl:Class ; @@ -404317,11 +420798,6 @@ OMIM:250800 a owl:Class ; PMID:9266404, PMID:9695975, PMID:97893 ; - oboInOwl:hasDbXref UMLS:C0268193, - UMLS:C2749559, - UMLS:C2749560, - UMLS:C2749561, - UMLS:C2749562 ; oboInOwl:hasExactSynonym "methemoglobinemia due to deficiency of methemoglobin reductase", "methemoglobinemia, iia 1", "methemoglobinemia, iia 2", @@ -404330,6 +420806,11 @@ OMIM:250800 a owl:Class ; "nadh-cytochrome b5 reductase deficiency, iia 1", "nadh-cytochrome b5 reductase deficiency, iia 2", "nadh-dependent methemoglobin reductase deficiency" ; + skos:exactMatch UMLS:C0268193, + UMLS:C2749559, + UMLS:C2749560, + UMLS:C2749561, + UMLS:C2749562 ; biolink:category biolink:Disease . OMIM:250850 a owl:Class ; @@ -404353,11 +420834,11 @@ OMIM:250850 a owl:Class ; PMID:889406, PMID:9042912, PMID:9482646 ; - oboInOwl:hasDbXref UMLS:C0268621 ; oboInOwl:hasExactSynonym "hypermethioninemia, isolated persistent", "mat deficiency", "mat i/iii deficiency", "methionine adenosyltransferase i/iii deficiency" ; + skos:exactMatch UMLS:C0268621 ; biolink:category biolink:Disease . OMIM:250950 a owl:Class ; @@ -404379,14 +420860,14 @@ OMIM:250950 a owl:Class ; PMID:6181239, PMID:720359, PMID:9762598 ; - oboInOwl:hasDbXref UMLS:C0342727, - ORPHA:67046 ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria, iia 1", "3-methylglutaconyl-coa hydratase deficiency", "3-mg-coa-hydratase deficiency", "MGCA1", "mga, iia 1" ; rdfs:subClassOf OMIMPS:250950 ; + skos:exactMatch UMLS:C0342727, + ORPHA:67046 ; biolink:category biolink:Disease . OMIM:251000 a owl:Class ; @@ -404426,16 +420907,16 @@ OMIM:251000 a owl:Class ; PMID:7681251, PMID:7913714, PMID:9819702 ; - oboInOwl:hasDbXref UMLS:C1855114, - ORPHA:27, - ORPHA:289916, - ORPHA:79312 ; oboInOwl:hasExactSynonym "methylmalonic acidemia due to methylmalonyl-coa mutase deficiency", "methylmalonic aciduria due to methylmalonyl-coa mutase deficiency", "methylmalonic aciduria, mut iia", "methylmalonic aciduria, mut(-) iia", "methylmalonic aciduria, mut(0) iia", "mma due to mcm deficiency" ; + skos:exactMatch UMLS:C1855114, + ORPHA:27, + ORPHA:289916, + ORPHA:79312 ; biolink:category biolink:Disease . OMIM:251100 a owl:Class ; @@ -404449,10 +420930,10 @@ OMIM:251100 a owl:Class ; PMID:5648598, PMID:5686220, PMID:6132336 ; - oboInOwl:hasDbXref UMLS:C1855109 ; oboInOwl:hasExactSynonym "methylmalonic acidemia, cbla iia", "methylmalonic aciduria, cbla iia", "methylmalonic aciduria, vitamin b12-responsive, due to defect 1n synthesis of adenosylcobalamin, cbla iia" ; + skos:exactMatch UMLS:C1855109 ; biolink:category biolink:Disease . OMIM:251110 a owl:Class ; @@ -404461,10 +420942,10 @@ OMIM:251110 a owl:Class ; PMID:20556797, PMID:24813872, PMID:7213387 ; - oboInOwl:hasDbXref UMLS:C1855102 ; oboInOwl:hasExactSynonym "methylmalonic acidemia, cblb iia", "methylmalonic aciduria, cblb iia", "methylmalonic aciduria, vitamin b12-responsive, due to defect 1n synthesis of adenosylcobalamin, cblb iia" ; + skos:exactMatch UMLS:C1855102 ; biolink:category biolink:Disease . OMIM:251120 a owl:Class ; @@ -404474,12 +420955,12 @@ OMIM:251120 a owl:Class ; PMID:16697227, PMID:16752391, PMID:6643681 ; - oboInOwl:hasDbXref UMLS:C1855100, - UMLS:C1855101 ; oboInOwl:hasExactSynonym "methylmalonic aciduria iii, formerly", "methylmalonyl-coa epimerase deficiency", "methylmalonyl-coa epimerase deficiency with sepiapterin reductase deficiency", "methylmalonyl-coa racemase deficiency" ; + skos:exactMatch UMLS:C1855100, + UMLS:C1855101 ; biolink:category biolink:Disease . OMIM:251230 a owl:Class ; @@ -404487,9 +420968,9 @@ OMIM:251230 a owl:Class ; IAO:0000142 PMID:28191891, PMID:28630177, PMID:7468660 ; - oboInOwl:hasDbXref UMLS:C1855079 ; oboInOwl:hasExactSynonym "MIMIS", "microcephaly-micromelia syndrome" ; + skos:exactMatch UMLS:C1855079 ; biolink:category biolink:Disease . OMIM:251270 a owl:Class ; @@ -404502,10 +420983,10 @@ OMIM:251270 a owl:Class ; PMID:5936364, PMID:6711609, PMID:870417 ; - oboInOwl:hasDbXref UMLS:C3278481 ; oboInOwl:hasExactSynonym "MCCRP1", "microcephaly and chorioretinopathy, autosomal recessive, 1" ; rdfs:subClassOf OMIMPS:251270 ; + skos:exactMatch UMLS:C3278481 ; biolink:category biolink:Disease . OMIM:251280 a owl:Class ; @@ -404521,11 +421002,11 @@ OMIM:251280 a owl:Class ; PMID:8368248, PMID:870357, PMID:9805130 ; - oboInOwl:hasDbXref UMLS:C4538630 ; oboInOwl:hasExactSynonym "DMJDS1", "diencephalic-mesencephalic junction dysplasia syndrome 1", "microcephaly, seizures, spasticity, and brain calcifications" ; rdfs:subClassOf OMIMPS:251280 ; + skos:exactMatch UMLS:C4538630 ; biolink:category biolink:Disease . OMIM:251600 a owl:Class ; @@ -404548,13 +421029,13 @@ OMIM:251600 a owl:Class ; PMID:8411053, PMID:9545413 ; RO:0002525 CHR:9606chr14q32 ; - oboInOwl:hasDbXref UMLS:C1855052 ; oboInOwl:hasExactSynonym "MCOP1", "anophthalmia, clinical, isolated", "mcop", "microphthalmia, isolated 1", "microphthalmos, autosomal recessive" ; rdfs:subClassOf OMIMPS:251600 ; + skos:exactMatch UMLS:C1855052 ; biolink:category biolink:Disease . OMIM:251750 a owl:Class ; @@ -404563,9 +421044,9 @@ OMIM:251750 a owl:Class ; PMID:20179738, PMID:20617341, PMID:22025892 ; - oboInOwl:hasDbXref UMLS:C3538951 ; oboInOwl:hasExactSynonym "MSPKA", "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" ; + skos:exactMatch UMLS:C3538951 ; biolink:category biolink:Disease . OMIM:251850 a owl:Class ; @@ -404586,7 +421067,6 @@ OMIM:251850 a owl:Class ; PMID:9323563, PMID:9844114, PMID:9880458 ; - oboInOwl:hasDbXref UMLS:C0341306 ; oboInOwl:hasExactSynonym "DIAR2", "congenital familial protracted diarrhea with enterocyte brush-border abnormalities", "davidson disease", @@ -404594,6 +421074,7 @@ OMIM:251850 a owl:Class ; "microvillus atrophy, congenital", "microvillus inclusion disease 1" ; rdfs:subClassOf OMIMPS:214700 ; + skos:exactMatch UMLS:C0341306 ; biolink:category biolink:Disease . OMIM:251900 a owl:Class ; @@ -404602,9 +421083,9 @@ OMIM:251900 a owl:Class ; PMID:30010796, PMID:5338697, PMID:6071254 ; - oboInOwl:hasDbXref UMLS:C5193007 ; oboInOwl:hasExactSynonym "MEOAL", "mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy" ; + skos:exactMatch UMLS:C5193007 ; biolink:category biolink:Disease . OMIM:251950 a owl:Class ; @@ -404613,10 +421094,10 @@ OMIM:251950 a owl:Class ; PMID:25512002, PMID:4725145, PMID:6938188 ; - oboInOwl:hasDbXref UMLS:C1855033, - ORPHA:2597 ; oboInOwl:hasExactSynonym "MMLA", "mitochondrial myopathy with lactic acidosis" ; + skos:exactMatch UMLS:C1855033, + ORPHA:2597 ; biolink:category biolink:Disease . OMIM:252150 a owl:Class ; @@ -404644,11 +421125,11 @@ OMIM:252150 a owl:Class ; PMID:9634514, PMID:9731530, PMID:9921896 ; - oboInOwl:hasDbXref UMLS:C1854988 ; oboInOwl:hasExactSynonym "MOCODA", "molybdenum cofactor deficiency, complementation group a", "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of" ; rdfs:subClassOf OMIMPS:252150 ; + skos:exactMatch UMLS:C1854988 ; biolink:category biolink:Disease . OMIM:252160 a owl:Class ; @@ -404660,10 +421141,10 @@ OMIM:252160 a owl:Class ; PMID:16021469, PMID:16737835, PMID:2522104 ; - oboInOwl:hasDbXref UMLS:C1854989 ; oboInOwl:hasExactSynonym "MOCODB", "molybdenum cofactor deficiency, complementation group B" ; rdfs:subClassOf OMIMPS:252150 ; + skos:exactMatch UMLS:C1854989 ; biolink:category biolink:Disease . OMIM:252270 a owl:Class ; @@ -404684,15 +421165,15 @@ OMIM:252270 a owl:Class ; PMID:3567084, PMID:3862804, PMID:6638045 ; - oboInOwl:hasDbXref UMLS:C1854978, - UMLS:C5435704, - ORPHA:495930 ; oboInOwl:hasExactSynonym "M7MLS1", "chromosome 7q deletion", "mlsm7", "monosomy 7 myelodysplasia and leukemia syndrome 1", "monosomy 7 of bone marrow" ; rdfs:subClassOf OMIMPS:252270 ; + skos:exactMatch UMLS:C1854978, + UMLS:C5435704, + ORPHA:495930 ; biolink:category biolink:Disease . OMIM:252350 a owl:Class ; @@ -404715,12 +421196,12 @@ OMIM:252350 a owl:Class ; PMID:9412642, PMID:9973290 ; RO:0002525 CHR:9606chr3p26-p24.2 ; - oboInOwl:hasDbXref UMLS:C2931384 ; oboInOwl:hasExactSynonym "MYMY1", "moyamoya disease", "moyamoya disease 1", "spontaneous occlusion of the circle of willis" ; rdfs:subClassOf OMIMPS:252350 ; + skos:exactMatch UMLS:C2931384 ; biolink:category biolink:Disease . OMIM:252600 a owl:Class ; @@ -404751,8 +421232,6 @@ OMIM:252600 a owl:Class ; PMID:8441145, PMID:850847, PMID:885137 ; - oboInOwl:hasDbXref UMLS:C0033788, - UMLS:C2673375 ; oboInOwl:hasExactSynonym "ml 3", "ml 3 alpha/beta", "mucolipidosis 3", @@ -404760,6 +421239,8 @@ OMIM:252600 a owl:Class ; "mucolipidosis 3 alpha/beta, atypical", "mucolipidosis 3a", "pseudo-hurler polydystrophy" ; + skos:exactMatch UMLS:C0033788, + UMLS:C2673375 ; biolink:category biolink:Disease . OMIM:252605 a owl:Class ; @@ -404776,7 +421257,6 @@ OMIM:252605 a owl:Class ; PMID:6461005, PMID:6961420, PMID:8940155 ; - oboInOwl:hasDbXref UMLS:C1854896 ; oboInOwl:hasExactSynonym "ml 3 gamma", "ml 3c", "mucolipidosis 3 gamma", @@ -404784,6 +421264,7 @@ OMIM:252605 a owl:Class ; "mucolipidosis iii, complementation group c", "mucolipidosis iii, iranian variant form", "mucolipidosis iii, variant form" ; + skos:exactMatch UMLS:C1854896 ; biolink:category biolink:Disease . OMIM:252650 a owl:Class ; @@ -404822,11 +421303,11 @@ OMIM:252650 a owl:Class ; PMID:9448310, PMID:9600972, PMID:9710036 ; - oboInOwl:hasDbXref UMLS:C0238286 ; oboInOwl:hasExactSynonym "ML4", "ml 4", "mucolipidosis 4", "sialolipidosis" ; + skos:exactMatch UMLS:C0238286 ; biolink:category biolink:Disease . OMIM:252900 a owl:Class ; @@ -404865,9 +421346,6 @@ OMIM:252900 a owl:Class ; PMID:8905897, PMID:9667374, PMID:9727849 ; - oboInOwl:hasDbXref UMLS:C0086647, - ORPHA:581, - ORPHA:79269 ; oboInOwl:hasExactSynonym "MPS3A", "heparan sulfate sulfatase deficiency", "mps 3a", @@ -404875,6 +421353,9 @@ OMIM:252900 a owl:Class ; "sanfilippo syndrome a", "sulfamidase deficiency" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0086647, + ORPHA:581, + ORPHA:79269 ; biolink:category biolink:Disease . OMIM:252920 a owl:Class ; @@ -404904,9 +421385,6 @@ OMIM:252920 a owl:Class ; PMID:6781343, PMID:6796309, PMID:8650226 ; - oboInOwl:hasDbXref UMLS:C0086648, - ORPHA:581, - ORPHA:79270 ; oboInOwl:hasExactSynonym "MPS3B", "mps 3b", "mucopolysaccharidosis, iia 3b", @@ -404914,6 +421392,9 @@ OMIM:252920 a owl:Class ; "naglu deficiency", "sanfilippo syndrome B" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0086648, + ORPHA:581, + ORPHA:79270 ; biolink:category biolink:Disease . OMIM:252940 a owl:Class ; @@ -404928,14 +421409,14 @@ OMIM:252940 a owl:Class ; PMID:6411475, PMID:6450420, PMID:6807676 ; - oboInOwl:hasDbXref UMLS:C0086650, - ORPHA:581, - ORPHA:79272 ; oboInOwl:hasExactSynonym "MPS3D", "mps 3d", "mucopolysaccharidosis, iia 3d", "n-acetylglucosamine-6-sulfatase deficiency", "sanfilippo syndrome d" ; + skos:exactMatch UMLS:C0086650, + ORPHA:581, + ORPHA:79272 ; biolink:category biolink:Disease . OMIM:253000 a owl:Class ; @@ -404995,9 +421476,6 @@ OMIM:253000 a owl:Class ; PMID:8829629, PMID:9298823, PMID:9375852 ; - oboInOwl:hasDbXref UMLS:C0086651, - ORPHA:309297, - ORPHA:582 ; oboInOwl:hasExactSynonym "MPS4A", "galactosamine-6-sulfatase deficiency", "galns deficiency", @@ -405006,6 +421484,9 @@ OMIM:253000 a owl:Class ; "mps 4a", "mucopolysaccharidosis, iia 4a" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0086651, + ORPHA:309297, + ORPHA:582 ; biolink:category biolink:Disease . OMIM:253010 a owl:Class ; @@ -405024,14 +421505,14 @@ OMIM:253010 a owl:Class ; PMID:6766519, PMID:7586649, PMID:817853 ; - oboInOwl:hasDbXref UMLS:C0086652, - ORPHA:309310, - ORPHA:582 ; oboInOwl:hasExactSynonym "MPS4B", "morquio syndrome B", "mps 4b", "mucopolysaccharidosis, iia 4b" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0086652, + ORPHA:309310, + ORPHA:582 ; biolink:category biolink:Disease . OMIM:253220 a owl:Class ; @@ -405067,8 +421548,6 @@ OMIM:253220 a owl:Class ; PMID:9099834, PMID:9543069, PMID:9793981 ; - oboInOwl:hasDbXref UMLS:C0085132, - ORPHA:584 ; oboInOwl:hasExactSynonym "MPS7", "beta-glucuronidase deficiency", "gusb deficiency", @@ -405076,6 +421555,8 @@ OMIM:253220 a owl:Class ; "mucopolysaccharidosis, iia 7", "sly syndrome" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0085132, + ORPHA:584 ; biolink:category biolink:Disease . OMIM:253250 a owl:Class ; @@ -405096,12 +421577,12 @@ OMIM:253250 a owl:Class ; PMID:7735507, PMID:8335020, PMID:9106536 ; - oboInOwl:hasDbXref UMLS:C0524582 ; oboInOwl:hasExactSynonym "MUL", "mulibrey nanism", "muscle-liver-brain-eye nanism", "perheentupa syndrome", "pericardial constriction and growth failure" ; + skos:exactMatch UMLS:C0524582 ; biolink:category biolink:Disease . OMIM:253260 a owl:Class ; @@ -405153,13 +421634,13 @@ OMIM:253260 a owl:Class ; PMID:9375914, PMID:9396567, PMID:9654207 ; - oboInOwl:hasDbXref UMLS:C0220754, - UMLS:C1854698, - ORPHA:79241 ; oboInOwl:hasExactSynonym "biotinidase deficiency", "btd deficiency", "multiple carboxylase deficiency, juvenile-onset", "multiple carboxylase deficiency, late-onset" ; + skos:exactMatch UMLS:C0220754, + UMLS:C1854698, + ORPHA:79241 ; biolink:category biolink:Disease . OMIM:253270 a owl:Class ; @@ -405188,11 +421669,11 @@ OMIM:253270 a owl:Class ; PMID:8319716, PMID:8817339, PMID:9128289 ; - oboInOwl:hasDbXref UMLS:C0268581 ; oboInOwl:hasExactSynonym "hlcs deficiency", "holocarboxylase synthetase deficiency", "multiple carboxylase deficiency, early onset", "multiple carboxylase deficiency, neonatal form" ; + skos:exactMatch UMLS:C0268581 ; biolink:category biolink:Disease . OMIM:253290 a owl:Class ; @@ -405211,10 +421692,10 @@ OMIM:253290 a owl:Class ; PMID:7645590, PMID:933128, PMID:9916854 ; - oboInOwl:hasDbXref UMLS:C1854678 ; oboInOwl:hasExactSynonym "LMPS", "multiple pterygium syndrome, lethal iia", "pterygium syndrome, multiple, lethal iia" ; + skos:exactMatch UMLS:C1854678 ; biolink:category biolink:Disease . OMIM:253310 a owl:Class ; @@ -405228,12 +421709,12 @@ OMIM:253310 a owl:Class ; PMID:7897624, PMID:7966188, PMID:9683599 ; - oboInOwl:hasDbXref UMLS:C1854664 ; oboInOwl:hasExactSynonym "LCCS1", "lccs", "lethal congenital contracture syndrome 1", "multiple contracture syndrome, finnish iia" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C1854664 ; biolink:category biolink:Disease . OMIM:253400 a owl:Class ; @@ -405274,13 +421755,13 @@ OMIM:253400 a owl:Class ; PMID:8595417, PMID:8782046, PMID:8900246 ; - oboInOwl:hasDbXref UMLS:C0152109 ; oboInOwl:hasExactSynonym "SMA3", "kugelberg-welander syndrome", "muscular atrophy, juvenile", "sma 3", "spinal muscular atrophy, iia 3", "spinal muscular atrophy, mild childhood and adolescent form" ; + skos:exactMatch UMLS:C0152109 ; biolink:category biolink:Disease . OMIM:253700 a owl:Class ; @@ -405321,7 +421802,6 @@ OMIM:253700 a owl:Class ; PMID:8825917, PMID:8923014, PMID:8968757 ; - oboInOwl:hasDbXref UMLS:C0410173 ; oboInOwl:hasExactSynonym "LGMDR5", "adhalin deficiency, secondary", "dmda", @@ -405333,6 +421813,7 @@ OMIM:253700 a owl:Class ; "sarcoglycan, gamma, deficiency of", "severe childhood autosomal recessive muscular dystrophy, north african iia" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C0410173 ; biolink:category biolink:Disease . OMIM:254210 a owl:Class ; @@ -405353,7 +421834,6 @@ OMIM:254210 a owl:Class ; PMID:6249893, PMID:6446471, PMID:7954508 ; - oboInOwl:hasDbXref UMLS:C0393929 ; oboInOwl:hasExactSynonym "CMS6", "cms ia2, formerly", "congenital myasthenic syndrome iia ia2, formerly", @@ -405362,6 +421842,7 @@ OMIM:254210 a owl:Class ; "myasthenic syndrome, congenital, 6, presynaptic", "myasthenic syndrome, presynaptic, congenital, associated with episodic apnea" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C0393929 ; biolink:category biolink:Disease . OMIM:254300 a owl:Class ; @@ -405377,7 +421858,6 @@ OMIM:254300 a owl:Class ; PMID:25237101, PMID:25792100, PMID:7878325 ; - oboInOwl:hasDbXref UMLS:C1850792 ; oboInOwl:hasExactSynonym "CMS10", "cms ib, formerly", "congenital myasthenic syndrome iia ib, formerly", @@ -405385,6 +421865,7 @@ OMIM:254300 a owl:Class ; "myasthenic myopathy, formerly", "myasthenic syndrome, congenital, 10" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C1850792 ; biolink:category biolink:Disease . OMIM:254500 a owl:Class ; @@ -405426,11 +421907,11 @@ OMIM:254500 a owl:Class ; PMID:9326949, PMID:9482902, PMID:9858219 ; - oboInOwl:hasDbXref UMLS:C0026764, - UMLS:C0268381 ; oboInOwl:hasExactSynonym "al amyloidosis", "amyloidosis, systemic", "myeloma, multiple" ; + skos:exactMatch UMLS:C0026764, + UMLS:C0268381 ; biolink:category biolink:Disease . OMIM:254800 a owl:Class ; @@ -405474,8 +421955,6 @@ OMIM:254800 a owl:Class ; PMID:9126745, PMID:9806543, PMID:9932979 ; - oboInOwl:hasDbXref UMLS:C0751785, - ORPHA:308 ; oboInOwl:hasExactSynonym "baltic myoclonic epilepsy", "epilepsy, progressive myoclonic, 1", "epilepsy, progressive myoclonic, 1a", @@ -405483,6 +421962,8 @@ OMIM:254800 a owl:Class ; "progressive myoclonic epilepsy", "uld" ; rdfs:subClassOf OMIMPS:254800 ; + skos:exactMatch UMLS:C0751785, + ORPHA:308 ; biolink:category biolink:Disease . OMIM:254900 a owl:Class ; @@ -405494,12 +421975,12 @@ OMIM:254900 a owl:Class ; PMID:19597094, PMID:19847901, PMID:21670406 ; - oboInOwl:hasDbXref UMLS:C0751779 ; oboInOwl:hasExactSynonym "EPM4", "action myoclonus-renal failure syndrome", "epilepsy, progressive myoclonic, 4, with or without renal failure", "myoclonus-nephropathy syndrome" ; rdfs:subClassOf OMIMPS:254800 ; + skos:exactMatch UMLS:C0751779 ; biolink:category biolink:Disease . OMIM:254940 a owl:Class ; @@ -405515,10 +421996,10 @@ OMIM:254940 a owl:Class ; PMID:7131178, PMID:8362917, PMID:9934972 ; - oboInOwl:hasDbXref UMLS:C1850746 ; oboInOwl:hasExactSynonym "CFZS", "carey-fineman-ziter syndrome", "myopathy, congenital nonprogressive, with moebius sequence and robin sequence" ; + skos:exactMatch UMLS:C1850746 ; biolink:category biolink:Disease . OMIM:255100 a owl:Class ; @@ -405527,9 +422008,9 @@ OMIM:255100 a owl:Class ; PMID:27259049, PMID:4179573, PMID:6788163 ; - oboInOwl:hasDbXref UMLS:C4310822 ; oboInOwl:hasExactSynonym "LSMFLAD", "lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" ; + skos:exactMatch UMLS:C4310822 ; biolink:category biolink:Disease . OMIM:255120 a owl:Class ; @@ -405545,11 +422026,11 @@ OMIM:255120 a owl:Class ; PMID:3211616, PMID:7014807, PMID:9691089 ; - oboInOwl:hasDbXref UMLS:C1829703 ; oboInOwl:hasExactSynonym "carnitine palmitoyltransferase 1 deficiency", "carnitine palmitoyltransferase 1a deficiency", "cpt 1 deficiency", "cpt deficiency, hepatic, iia 1" ; + skos:exactMatch UMLS:C1829703 ; biolink:category biolink:Disease . OMIM:255125 a owl:Class ; @@ -405567,12 +422048,12 @@ OMIM:255125 a owl:Class ; PMID:5811159, PMID:7616539, PMID:8254022 ; - oboInOwl:hasDbXref UMLS:C1850718 ; oboInOwl:hasExactSynonym "HML", "myoglobinuria due to abnormal glycolysis", "myopathy with deficiency of succinate dehydrogenase and aconitase", "myopathy with exercise intolerance, swedish iia", "myopathy with lactic acidosis, hereditary" ; + skos:exactMatch UMLS:C1850718 ; biolink:category biolink:Disease . OMIM:255200 a owl:Class ; @@ -405585,13 +422066,13 @@ OMIM:255200 a owl:Class ; PMID:5478951, PMID:7211157, PMID:8544184 ; - oboInOwl:hasDbXref UMLS:C0410204, - ORPHA:169186 ; oboInOwl:hasExactSynonym "CNM2", "myopathy, centronuclear, 2", "myopathy, centronuclear, autosomal recessive", "myotubular myopathy, autosomal recessive" ; rdfs:subClassOf OMIMPS:160150 ; + skos:exactMatch UMLS:C0410204, + ORPHA:169186 ; biolink:category biolink:Disease . OMIM:255310 a owl:Class ; @@ -405615,10 +422096,10 @@ OMIM:255310 a owl:Class ; PMID:7706500, PMID:7908614, PMID:9326330 ; - oboInOwl:hasDbXref UMLS:C0546264 ; oboInOwl:hasExactSynonym "CFTD", "fiber-type disproportion myopathy, congenital", "myopathy, congenital, with fiber-type disproportion" ; + skos:exactMatch UMLS:C0546264 ; biolink:category biolink:Disease . OMIM:255320 a owl:Class ; @@ -405641,14 +422122,14 @@ OMIM:255320 a owl:Class ; PMID:72134, PMID:7299413, PMID:9932958 ; - oboInOwl:hasDbXref UMLS:C1850674, - ORPHA:598, - ORPHA:98905 ; oboInOwl:hasExactSynonym "minicore myopathy", "minicore myopathy with external ophthalmoplegia", "multicore myopathy", "multiminicore disease with external ophthalmoplegia", "multiminicore myopathy multicore myopathy with external ophthalmoplegia" ; + skos:exactMatch UMLS:C1850674, + ORPHA:598, + ORPHA:98905 ; biolink:category biolink:Disease . OMIM:255800 a owl:Class ; @@ -405680,8 +422161,6 @@ OMIM:255800 a owl:Class ; PMID:8541852, PMID:9018418, PMID:9083764 ; - oboInOwl:hasDbXref UMLS:C0036391, - UMLS:C4551479 ; oboInOwl:hasExactSynonym "SJS1", "chondrodystrophic myotonia", "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities", @@ -405689,6 +422168,8 @@ OMIM:255800 a owl:Class ; "schwartz-jampel syndrome, iia 1", "schwartz-jampel-aberfeld syndrome", "sja syndrome" ; + skos:exactMatch UMLS:C0036391, + UMLS:C4551479 ; biolink:category biolink:Disease . OMIM:255995 a owl:Class ; @@ -405701,12 +422182,12 @@ OMIM:255995 a owl:Class ; PMID:30168660, PMID:3245876, PMID:3631569 ; - oboInOwl:hasDbXref UMLS:C1850625, - ORPHA:168572 ; oboInOwl:hasExactSynonym "MYPBB", "myopathy, congenital, bailey-bloch", "myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia", "native american myopathy" ; + skos:exactMatch UMLS:C1850625, + ORPHA:168572 ; biolink:category biolink:Disease . OMIM:256030 a owl:Class ; @@ -405726,10 +422207,10 @@ OMIM:256030 a owl:Class ; PMID:28336317, PMID:8580725, PMID:9359044 ; - oboInOwl:hasDbXref UMLS:C1850569 ; oboInOwl:hasExactSynonym "NEM2", "nemaline myopathy 2" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C1850569 ; biolink:category biolink:Disease . OMIM:256300 a owl:Class ; @@ -405770,12 +422251,12 @@ OMIM:256300 a owl:Class ; PMID:8989752, PMID:938078, PMID:9660941 ; - oboInOwl:hasDbXref UMLS:C0403399 ; oboInOwl:hasExactSynonym "NPHS1", "finnish congenital nephrosis", "nephrotic syndrome, iia 1", "nephrotic syndrome, congenital" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C0403399 ; biolink:category biolink:Disease . OMIM:256370 a owl:Class ; @@ -405785,10 +422266,10 @@ OMIM:256370 a owl:Class ; PMID:7180443, PMID:9529364, PMID:9607189 ; - oboInOwl:hasDbXref UMLS:C3151568 ; oboInOwl:hasExactSynonym "NPHS4", "nephrotic syndrome, iia 4" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C3151568 ; biolink:category biolink:Disease . OMIM:256500 a owl:Class ; @@ -405818,13 +422299,13 @@ OMIM:256500 a owl:Class ; PMID:5652709, PMID:6024735, PMID:7822652 ; - oboInOwl:hasDbXref UMLS:C0265962 ; oboInOwl:hasExactSynonym "NETH", "comel-netherton syndrome", "erythroderma, ichthyosiform, with hypotrichosis and hyper-ige", "netherton disease", "netherton syndrome", "ns" ; + skos:exactMatch UMLS:C0265962 ; biolink:category biolink:Disease . OMIM:256540 a owl:Class ; @@ -405866,7 +422347,6 @@ OMIM:256540 a owl:Class ; PMID:8968752, PMID:96839, PMID:9762607 ; - oboInOwl:hasDbXref UMLS:C0268233 ; oboInOwl:hasExactSynonym "GSL", "cathepsin a deficiency", "galactosialidosis", @@ -405876,6 +422356,7 @@ OMIM:256540 a owl:Class ; "neuraminidase/beta-galactosidase expression", "ppca deficiency", "protective protein/cathepsin a deficiency" ; + skos:exactMatch UMLS:C0268233 ; biolink:category biolink:Disease . OMIM:256550 a owl:Class ; @@ -405936,9 +422417,6 @@ OMIM:256550 a owl:Class ; PMID:8985184, PMID:9054950, PMID:9425240 ; - oboInOwl:hasDbXref UMLS:C0268226, - UMLS:C0268228, - UMLS:C4282398 ; oboInOwl:hasExactSynonym "cherry red spot--myoclonus syndrome", "glycoprotein neuraminidase deficiency", "lipomucopolysaccharidosis", @@ -405953,6 +422431,9 @@ OMIM:256550 a owl:Class ; "sialidase deficiency", "sialidosis, iia 1", "sialidosis, iia 2" ; + skos:exactMatch UMLS:C0268226, + UMLS:C0268228, + UMLS:C4282398 ; biolink:category biolink:Disease . OMIM:256700 a owl:Class ; @@ -406027,11 +422508,11 @@ OMIM:256700 a owl:Class ; PMID:922665, PMID:946291, PMID:9618176 ; - oboInOwl:hasDbXref UMLS:C2749484, - UMLS:C2749485 ; oboInOwl:hasExactSynonym "NBLST1", "neuroblastoma, susceptibility to", "neuroblastoma, susceptibility to, 1" ; + skos:exactMatch UMLS:C2749484, + UMLS:C2749485 ; biolink:category biolink:Disease . OMIM:256731 a owl:Class ; @@ -406053,15 +422534,15 @@ OMIM:256731 a owl:Class ; PMID:8644710, PMID:8661106, PMID:9662406 ; - oboInOwl:hasDbXref UMLS:C1850442, - ORPHA:168491, - ORPHA:228360 ; oboInOwl:hasExactSynonym "CLN5", "ceroid lipofuscinosis, neuronal, 5", "ceroid lipofuscinosis, neuronal, 5, variable age at onset", "finnish vlincl", "neuronal ceroid lipofuscinosis, late infantile, finnish variant" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C1850442, + ORPHA:168491, + ORPHA:228360 ; biolink:category biolink:Disease . OMIM:256800 a owl:Class ; @@ -406090,7 +422571,6 @@ OMIM:256800 a owl:Class ; PMID:8145823, PMID:8696348, PMID:9620018 ; - oboInOwl:hasDbXref UMLS:C0020074 ; oboInOwl:hasExactSynonym "CIPA", "familial dysautonomia, iia 2", "hereditary sensory and autonomic neuropathy 4", @@ -406098,6 +422578,7 @@ OMIM:256800 a owl:Class ; "insensitivity to pain, congenital, with anhidrosis", "neuropathy, congenital sensory, with anhidrosis" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C0020074 ; biolink:category biolink:Disease . OMIM:256810 a owl:Class ; @@ -406114,14 +422595,14 @@ OMIM:256810 a owl:Class ; PMID:2300261, PMID:29282788, PMID:8170555 ; - oboInOwl:hasDbXref UMLS:C1850406, - UMLS:C1850407 ; oboInOwl:hasExactSynonym "MTDPS6", "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)", "navajo familial neurogenic arthropathy", "navajo neurohepatopathy", "navajo neuropathy" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C1850406, + UMLS:C1850407 ; biolink:category biolink:Disease . OMIM:256840 a owl:Class ; @@ -406130,8 +422611,8 @@ OMIM:256840 a owl:Class ; PMID:16399879, PMID:218673, PMID:7922454 ; - oboInOwl:hasDbXref UMLS:C1850395 ; oboInOwl:hasExactSynonym "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" ; + skos:exactMatch UMLS:C1850395 ; biolink:category biolink:Disease . OMIM:257270 a owl:Class ; @@ -406144,12 +422625,12 @@ OMIM:257270 a owl:Class ; PMID:3493759, PMID:4537233, PMID:5311788 ; - oboInOwl:hasDbXref UMLS:C1850362 ; oboInOwl:hasExactSynonym "CSNB1B", "csnb, complete, autosomal recessive", "night blindness, congenital stationary, iia 1b", "night blindness, congenital stationary, complete, autosomal recessive" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C1850362 ; biolink:category biolink:Disease . OMIM:257550 a owl:Class ; @@ -406167,10 +422648,10 @@ OMIM:257550 a owl:Class ; PMID:7387458, PMID:9881808 ; RO:0002525 CHR:9606chr2q13 ; - oboInOwl:hasDbXref UMLS:C0543874 ; oboInOwl:hasExactSynonym "ocular motor apraxia", "oculomotor apraxia, cogan iia", "saccade initiation failure, congenital" ; + skos:exactMatch UMLS:C0543874 ; biolink:category biolink:Disease . OMIM:257920 a owl:Class ; @@ -406187,15 +422668,15 @@ OMIM:257920 a owl:Class ; PMID:690758, PMID:7677137, PMID:8933348 ; - oboInOwl:hasDbXref UMLS:C0796059, - ORPHA:2506, - ORPHA:293843 ; oboInOwl:hasExactSynonym "3MC1", "3mc syndrome 1", "craniosynostosis with 51d anomalies", "michels syndrome, formerly", "oculopalatoskeletal syndrome" ; rdfs:subClassOf OMIMPS:257920 ; + skos:exactMatch UMLS:C0796059, + ORPHA:2506, + ORPHA:293843 ; biolink:category biolink:Disease . OMIM:258150 a owl:Class ; @@ -406207,13 +422688,13 @@ OMIM:258150 a owl:Class ; PMID:5518568, PMID:7446525, PMID:797314 ; - oboInOwl:hasDbXref UMLS:C0403810, - ORPHA:399805 ; oboInOwl:hasExactSynonym "SPGF1", "oligochiasmatic infertility", "oligosynaptic infertility", "spermatogenic failure 1" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C0403810, + ORPHA:399805 ; biolink:category biolink:Disease . OMIM:258480 a owl:Class ; @@ -406229,10 +422710,10 @@ OMIM:258480 a owl:Class ; PMID:6496568, PMID:7551158, PMID:8209898 ; - oboInOwl:hasDbXref UMLS:C0432219, - ORPHA:2746 ; oboInOwl:hasExactSynonym "OPSMD", "opsismodysplasia" ; + skos:exactMatch UMLS:C0432219, + ORPHA:2746 ; biolink:category biolink:Disease . OMIM:258500 a owl:Class ; @@ -406240,11 +422721,11 @@ OMIM:258500 a owl:Class ; IAO:0000142 PMID:14508503, PMID:1594192 ; RO:0002525 CHR:9606chr8q21-q22 ; - oboInOwl:hasDbXref UMLS:C1850281 ; oboInOwl:hasExactSynonym "OPA6", "optic atrophy 6", "optic atrophy, congenital or early infantile, autosomal recessive" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C1850281 ; biolink:category biolink:Disease . OMIM:258660 a owl:Class ; @@ -406255,10 +422736,10 @@ OMIM:258660 a owl:Class ; PMID:14718294, PMID:2396658, PMID:4479396 ; - oboInOwl:hasDbXref UMLS:C1847711 ; oboInOwl:hasExactSynonym "naion, susceptibility to", "nonarteritic anterior ischemic optic neuropathy, susceptibility to", "optic neuropathy, anterior ischemic, susceptibility to" ; + skos:exactMatch UMLS:C1847711 ; biolink:category biolink:Disease . OMIM:258860 a owl:Class ; @@ -406274,7 +422755,6 @@ OMIM:258860 a owl:Class ; PMID:8116671, PMID:8556824, PMID:9096753 ; - oboInOwl:hasDbXref UMLS:C0406727 ; oboInOwl:hasExactSynonym "OFD4", "baraitser-burn syndrome", "mohr-majewski syndrome", @@ -406284,6 +422764,7 @@ OMIM:258860 a owl:Class ; "oral-facial-digital syndrome, iia 4", "orofaciodigital syndrome 4" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C0406727 ; biolink:category biolink:Disease . OMIM:259050 a owl:Class ; @@ -406299,10 +422780,10 @@ OMIM:259050 a owl:Class ; PMID:3783663, PMID:6809950, PMID:8867656 ; - oboInOwl:hasDbXref UMLS:C0796121 ; oboInOwl:hasExactSynonym "PRIMS", "ossified ear cartilages with mental deficiency, muscle wasting, and bony changes", "primrose syndrome" ; + skos:exactMatch UMLS:C0796121 ; biolink:category biolink:Disease . OMIM:259100 a owl:Class ; @@ -406330,11 +422811,6 @@ OMIM:259100 a owl:Class ; PMID:7584698, PMID:8252005, PMID:9402870 ; - oboInOwl:hasDbXref UMLS:C0029411, - UMLS:C2678439, - UMLS:C4551679, - ORPHA:1525, - ORPHA:2796 ; oboInOwl:hasExactSynonym "PHOAR1", "cranioosteoarthropathy", "currarino idiopathic osteoarthropathy", @@ -406345,6 +422821,11 @@ OMIM:259100 a owl:Class ; "pho, autosomal recessive", "touraine-solente-gole syndrome" ; rdfs:subClassOf OMIMPS:259100 ; + skos:exactMatch UMLS:C0029411, + UMLS:C2678439, + UMLS:C4551679, + ORPHA:1525, + ORPHA:2796 ; biolink:category biolink:Disease . OMIM:259440 a owl:Class ; @@ -406355,11 +422836,11 @@ OMIM:259440 a owl:Class ; PMID:22718341, PMID:2650933, PMID:458828 ; - oboInOwl:hasDbXref UMLS:C1850169 ; oboInOwl:hasExactSynonym "OI9", "oi, iia 9", "osteogenesis imperfecta, iia 9" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C1850169 ; biolink:category biolink:Disease . OMIM:259450 a owl:Class ; @@ -406377,11 +422858,11 @@ OMIM:259450 a owl:Class ; PMID:8335019, PMID:9129737, PMID:9927692 ; - oboInOwl:hasDbXref UMLS:C1850168 ; oboInOwl:hasExactSynonym "BRKS1", "arthrogryposis-like disorder", "bruck syndrome 1", "kuskokwim disease" ; + skos:exactMatch UMLS:C1850168 ; biolink:category biolink:Disease . OMIM:259500 a owl:Class ; @@ -406400,9 +422881,9 @@ OMIM:259500 a owl:Class ; PMID:4315294, PMID:5222601, PMID:9718349 ; - oboInOwl:hasDbXref UMLS:C0029463 ; oboInOwl:hasExactSynonym "osteogenic sarcoma", "osteosarcoma" ; + skos:exactMatch UMLS:C0029463 ; biolink:category biolink:Disease . OMIM:259700 a owl:Class ; @@ -406438,13 +422919,13 @@ OMIM:259700 a owl:Class ; PMID:874663, PMID:8878435, PMID:9700194 ; - oboInOwl:hasDbXref UMLS:C1850127 ; oboInOwl:hasExactSynonym "OPTB1", "albers-schonberg disease, autosomal recessive", "marble bones, autosomal recessive", "osteopetrosis, autosomal recessive 1", "osteopetrosis, infantile malignant 1" ; rdfs:subClassOf OMIMPS:259700 ; + skos:exactMatch UMLS:C1850127 ; biolink:category biolink:Disease . OMIM:259710 a owl:Class ; @@ -406452,12 +422933,12 @@ OMIM:259710 a owl:Class ; IAO:0000142 PMID:17632511, PMID:6702897, PMID:7420221 ; - oboInOwl:hasDbXref UMLS:C1850126 ; oboInOwl:hasExactSynonym "OPTB2", "osteopetrosis, autosomal recessive 2", "osteopetrosis, mild autosomal recessive form", "osteopetrosis, osteoclast-poor" ; rdfs:subClassOf OMIMPS:259700 ; + skos:exactMatch UMLS:C1850126 ; biolink:category biolink:Disease . OMIM:259720 a owl:Class ; @@ -406470,11 +422951,11 @@ OMIM:259720 a owl:Class ; PMID:23772242, PMID:3513575, PMID:4706681 ; - oboInOwl:hasDbXref UMLS:C1968603 ; oboInOwl:hasExactSynonym "OPTB5", "osteopetrosis, autosomal recessive 5", "osteopetrosis, infantile malignant 3" ; rdfs:subClassOf OMIMPS:259700 ; + skos:exactMatch UMLS:C1968603 ; biolink:category biolink:Disease . OMIM:259730 a owl:Class ; @@ -406500,8 +422981,6 @@ OMIM:259730 a owl:Class ; PMID:8834238, PMID:9143915, PMID:9150731 ; - oboInOwl:hasDbXref UMLS:C0345407, - ORPHA:2785 ; oboInOwl:hasExactSynonym "OPTB3", "carbonic anhydrase 2 deficiency", "guibaud-vainsel syndrome", @@ -406509,31 +422988,8 @@ OMIM:259730 a owl:Class ; "osteopetrosis with renal tubular acidosis", "osteopetrosis, autosomal recessive 3" ; rdfs:subClassOf OMIMPS:259700 ; - biolink:category biolink:Disease . - -OMIM:259775 a owl:Class ; - rdfs:label "raine syndrome" ; - IAO:0000142 PMID:10482879, - PMID:10826619, - PMID:11446420, - PMID:12868469, - PMID:14564151, - PMID:1468457, - PMID:1642277, - PMID:17924334, - PMID:18000911, - PMID:19250384, - PMID:2020859, - PMID:20825432, - PMID:22582013, - PMID:2614802, - PMID:8598998, - PMID:9450875, - PMID:9714445 ; - oboInOwl:hasDbXref UMLS:C1850106 ; - oboInOwl:hasExactSynonym "RNS", - "osteosclerotic bone dysplasia, lethal", - "raine syndrome" ; + skos:exactMatch UMLS:C0345407, + ORPHA:2785 ; biolink:category biolink:Disease . OMIM:259900 a owl:Class ; @@ -406578,9 +423034,6 @@ OMIM:259900 a owl:Class ; PMID:8507692, PMID:8843467, PMID:9643991 ; - oboInOwl:hasDbXref UMLS:C0268164, - ORPHA:416, - ORPHA:93598 ; oboInOwl:hasExactSynonym "HP1", "alanine-glyoxylate aminotransferase deficiency", "glycolic aciduria", @@ -406590,6 +423043,9 @@ OMIM:259900 a owl:Class ; "peroxisomal alanine:glyoxylate aminotransferase deficiency", "serine:pyruvate aminotransferase deficiency" ; rdfs:subClassOf OMIMPS:259900 ; + skos:exactMatch UMLS:C0268164, + ORPHA:416, + ORPHA:93598 ; biolink:category biolink:Disease . OMIM:260000 a owl:Class ; @@ -406604,7 +423060,6 @@ OMIM:260000 a owl:Class ; PMID:5635456, PMID:6434867, PMID:9243228 ; - oboInOwl:hasDbXref UMLS:C0268165 ; oboInOwl:hasExactSynonym "HP2", "d-glycerate dehydrogenase deficiency", "glyceric aciduria", @@ -406612,6 +423067,7 @@ OMIM:260000 a owl:Class ; "hyperoxaluria, primary, iia 2", "oxalosis 2" ; rdfs:subClassOf OMIMPS:259900 ; + skos:exactMatch UMLS:C0268165 ; biolink:category biolink:Disease . OMIM:260005 a owl:Class ; @@ -406622,10 +423078,10 @@ OMIM:260005 a owl:Class ; PMID:6113726, PMID:6790862, PMID:8127060 ; - oboInOwl:hasDbXref UMLS:C0268525 ; oboInOwl:hasExactSynonym "5-oxoprolinase deficiency", "OPLAHD", "oxoprolinuria due to 5-oxoprolinase deficiency" ; + skos:exactMatch UMLS:C0268525 ; biolink:category biolink:Disease . OMIM:260300 a owl:Class ; @@ -406640,13 +423096,13 @@ OMIM:260300 a owl:Class ; PMID:5444533, PMID:5644941, PMID:7845409 ; - oboInOwl:hasDbXref UMLS:C1850100 ; oboInOwl:hasExactSynonym "PARK15", "pallido-pyramidal syndrome", "pallidopyramidal syndrome", "parkinson disease 15, autosomal recessive early-onset", "parkinsonian-pyramidal syndrome" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1850100 ; biolink:category biolink:Disease . OMIM:260565 a owl:Class ; @@ -406659,11 +423115,11 @@ OMIM:260565 a owl:Class ; PMID:8460530, PMID:8552220, PMID:8723564 ; - oboInOwl:hasDbXref UMLS:C1850055 ; oboInOwl:hasExactSynonym "PEHO", "infantile cerebellooptic atrophy", "peho syndrome", "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" ; + skos:exactMatch UMLS:C1850055 ; biolink:category biolink:Disease . OMIM:260600 a owl:Class ; @@ -406680,10 +423136,10 @@ OMIM:260600 a owl:Class ; PMID:4024864, PMID:4685841, PMID:5898404 ; - oboInOwl:hasDbXref UMLS:C1850053 ; oboInOwl:hasExactSynonym "HLD3", "leukodystrophy, hypomyelinating, 3" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C1850053 ; biolink:category biolink:Disease . OMIM:260660 a owl:Class ; @@ -406691,10 +423147,10 @@ OMIM:260660 a owl:Class ; IAO:0000142 PMID:11146473, PMID:19068278, PMID:7103674 ; - oboInOwl:hasDbXref UMLS:C1850040 ; oboInOwl:hasExactSynonym "cousin syndrome", "craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature", "pelviscapular dysplasia" ; + skos:exactMatch UMLS:C1850040 ; biolink:category biolink:Disease . OMIM:260800 a owl:Class ; @@ -406708,12 +423164,12 @@ OMIM:260800 a owl:Class ; PMID:3994659, PMID:4073836, PMID:4392213 ; - oboInOwl:hasDbXref UMLS:C0268162 ; oboInOwl:hasExactSynonym "PNTSU", "l-xylulose reductase deficiency", "l-xylulosuria", "pentosuria", "xylitol dehydrogenase deficiency" ; + skos:exactMatch UMLS:C0268162 ; biolink:category biolink:Disease . OMIM:261000 a owl:Class ; @@ -406732,11 +423188,11 @@ OMIM:261000 a owl:Class ; PMID:5922169, PMID:6823973, PMID:9530637 ; - oboInOwl:hasDbXref UMLS:C1394891, - ORPHA:332 ; oboInOwl:hasExactSynonym "IFD", "intrinsic factor deficiency", "pernicious anemia, congenital, due to defect of intrinsic factor" ; + skos:exactMatch UMLS:C1394891, + ORPHA:332 ; biolink:category biolink:Disease . OMIM:261500 a owl:Class ; @@ -406753,12 +423209,12 @@ OMIM:261500 a owl:Class ; PMID:6178618, PMID:6429999, PMID:7809065 ; - oboInOwl:hasDbXref UMLS:C1850000 ; oboInOwl:hasExactSynonym "EPXD", "eosinophil peroxidase deficiency", "eosinophil peroxidase deficiency, partial", "peroxidase and phospholipid deficiency 1n eosinophils", "presentey anomaly" ; + skos:exactMatch UMLS:C1850000 ; biolink:category biolink:Disease . OMIM:261515 a owl:Class ; @@ -406785,12 +423241,12 @@ OMIM:261515 a owl:Class ; PMID:9345094, PMID:9482850, PMID:9915948 ; - oboInOwl:hasDbXref UMLS:C0342870 ; oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase 4 deficiency", "d-bifunctional protein deficiency", "dbp deficiency", "pbfe deficiency", "peroxisomal bifunctional enzyme deficiency" ; + skos:exactMatch UMLS:C0342870 ; biolink:category biolink:Disease . OMIM:261540 a owl:Class ; @@ -406807,11 +423263,11 @@ OMIM:261540 a owl:Class ; PMID:3079999, PMID:3189394, PMID:6443615 ; - oboInOwl:hasDbXref UMLS:C0796012 ; oboInOwl:hasExactSynonym "PTRPLS", "krause-kivlin syndrome", "peters anomaly with short-limb dwarfism", "peters-plus syndrome" ; + skos:exactMatch UMLS:C0796012 ; biolink:category biolink:Disease . OMIM:261600 a owl:Class ; @@ -406990,9 +423446,6 @@ OMIM:261600 a owl:Class ; PMID:9556654, PMID:9637722, PMID:9781015 ; - oboInOwl:hasDbXref UMLS:C0751434, - ORPHA:2209, - ORPHA:716 ; oboInOwl:hasExactSynonym "PKU", "folling disease", "hpa, non-pku mild", @@ -407002,6 +423455,9 @@ OMIM:261600 a owl:Class ; "phenylalanine hydroxylase deficiency", "phenylketonuria", "phenylketonuria, maternal" ; + skos:exactMatch UMLS:C0751434, + ORPHA:2209, + ORPHA:716 ; biolink:category biolink:Disease . OMIM:261630 a owl:Class ; @@ -407026,7 +423482,6 @@ OMIM:261630 a owl:Class ; PMID:93181, PMID:9744478, PMID:978323 ; - oboInOwl:hasDbXref UMLS:C0268465 ; oboInOwl:hasExactSynonym "HPABH4C", "dhpr deficiency", "dihydropteridine reductase deficiency", @@ -407034,6 +423489,7 @@ OMIM:261630 a owl:Class ; "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency", "qdpr deficiency", "quinoid dihydropteridine reductase deficiency" ; + skos:exactMatch UMLS:C0268465 ; biolink:category biolink:Disease . OMIM:261640 a owl:Class ; @@ -407061,14 +423517,14 @@ OMIM:261640 a owl:Class ; PMID:9222755, PMID:9222757, PMID:9450907 ; - oboInOwl:hasDbXref UMLS:C0878676, - UMLS:C2678415 ; oboInOwl:hasExactSynonym "6-pyruvoyl-tetrahydropterin synthase deficiency", "HPABH4A", "hyperphenylalaninemia, bh4-deficient, a", "hyperphenylalaninemia, bh4-deficient, due to partial pts deficiency", "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency", "pts deficiency" ; + skos:exactMatch UMLS:C0878676, + UMLS:C2678415 ; biolink:category biolink:Disease . OMIM:261650 a owl:Class ; @@ -407078,11 +423534,11 @@ OMIM:261650 a owl:Class ; PMID:3089795, PMID:6775276, PMID:8394647 ; - oboInOwl:hasDbXref UMLS:C1849821 ; oboInOwl:hasExactSynonym "PCKDM", "pck2 deficiency", "pepck2 deficiency", "phosphoenolpyruvate carboxykinase deficiency, mitochondrial" ; + skos:exactMatch UMLS:C1849821 ; biolink:category biolink:Disease . OMIM:261670 a owl:Class ; @@ -407095,13 +423551,13 @@ OMIM:261670 a owl:Class ; PMID:6283419, PMID:6308514, PMID:8447317 ; - oboInOwl:hasDbXref UMLS:C0268149 ; oboInOwl:hasExactSynonym "GSD10", "glycogen storage disease 10", "gsd 10", "myopathy due to phosphoglycerate mutase deficiency", "pgamm deficiency", "phosphoglycerate mutase, muscle, deficiency of" ; + skos:exactMatch UMLS:C0268149 ; biolink:category biolink:Disease . OMIM:261680 a owl:Class ; @@ -407112,11 +423568,11 @@ OMIM:261680 a owl:Class ; PMID:24863970, PMID:26971250, PMID:28216384 ; - oboInOwl:hasDbXref UMLS:C0268194 ; oboInOwl:hasExactSynonym "PCKDC", "pck1 deficiency, cytosolic", "pepck deficiency, cytosolic", "phosphoenolpyruvate carboxykinase deficiency, cytosolic" ; + skos:exactMatch UMLS:C0268194 ; biolink:category biolink:Disease . OMIM:261750 a owl:Class ; @@ -407131,12 +423587,12 @@ OMIM:261750 a owl:Class ; PMID:6422139, PMID:6938920, PMID:9215682 ; - oboInOwl:hasDbXref UMLS:C0543514 ; oboInOwl:hasExactSynonym "GSD9B", "glycogen storage disease ixb", "glycogenosis of liver and muscle, autosomal recessive", "gsd ixb", "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" ; + skos:exactMatch UMLS:C0543514 ; biolink:category biolink:Disease . OMIM:261800 a owl:Class ; @@ -407151,21 +423607,21 @@ OMIM:261800 a owl:Class ; PMID:5414813, PMID:5481910 ; RO:0002525 CHR:9606chr17q24.3-q25.1 ; - oboInOwl:hasDbXref UMLS:C0031900 ; oboInOwl:hasExactSynonym "PRBNS", "glossoptosis, micrognathia, and cleft palate", "pierre robin sequence", "pierre robin syndrome" ; + skos:exactMatch UMLS:C0031900 ; biolink:category biolink:Disease . OMIM:261990 a owl:Class ; rdfs:label "abnormal hair, joint laxity, and developmental delay" ; IAO:0000142 PMID:1379303, PMID:31125343 ; - oboInOwl:hasDbXref UMLS:C1849811 ; oboInOwl:hasExactSynonym "HJDD", "abnormal hair, joint laxity, and developmental delay", "pili torti and developmental delay" ; + skos:exactMatch UMLS:C1849811 ; biolink:category biolink:Disease . OMIM:262190 a owl:Class ; @@ -407185,10 +423641,10 @@ OMIM:262190 a owl:Class ; PMID:7002061, PMID:7434030, PMID:9449692 ; - oboInOwl:hasDbXref UMLS:C0271695 ; oboInOwl:hasExactSynonym "mendenhall syndrome", "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities", "rabson-mendenhall syndrome" ; + skos:exactMatch UMLS:C0271695 ; biolink:category biolink:Disease . OMIM:262600 a owl:Class ; @@ -407218,10 +423674,6 @@ OMIM:262600 a owl:Class ; PMID:9745452, PMID:9768691, PMID:9920061 ; - oboInOwl:hasDbXref UMLS:C0242343, - UMLS:C0878683, - ORPHA:90695, - ORPHA:95494 ; oboInOwl:hasExactSynonym "CPHD2", "ateliotic dwarfism with hypogonadism", "hanhart dwarfism", @@ -407229,6 +423681,10 @@ OMIM:262600 a owl:Class ; "pituitary dwarfism 3", "pituitary hormone deficiency, combined, 2" ; rdfs:subClassOf OMIMPS:613038 ; + skos:exactMatch UMLS:C0242343, + UMLS:C0878683, + ORPHA:90695, + ORPHA:95494 ; biolink:category biolink:Disease . OMIM:262650 a owl:Class ; @@ -407239,10 +423695,10 @@ OMIM:262650 a owl:Class ; PMID:6340044, PMID:8552145, PMID:9276733 ; - oboInOwl:hasDbXref UMLS:C1849779 ; oboInOwl:hasExactSynonym "biodefective growth hormone", "kowarski syndrome", "pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin" ; + skos:exactMatch UMLS:C1849779 ; biolink:category biolink:Disease . OMIM:262850 a owl:Class ; @@ -407260,10 +423716,10 @@ OMIM:262850 a owl:Class ; PMID:89324, PMID:9163066, PMID:9880645 ; - oboInOwl:hasDbXref UMLS:C2752081 ; oboInOwl:hasExactSynonym "alpha-2-plasmin inhibitor deficiency", "antiplasmin deficiency", "plasmin inhibitor deficiency" ; + skos:exactMatch UMLS:C2752081 ; biolink:category biolink:Disease . OMIM:263000 a owl:Class ; @@ -407278,13 +423734,13 @@ OMIM:263000 a owl:Class ; PMID:8090606, PMID:8585561, PMID:9035199 ; - oboInOwl:hasDbXref UMLS:C0238378 ; oboInOwl:hasExactSynonym "DIP", "ild, desquamative", "interstitial lung disease, desquamative", "interstitial pneumonitis, desquamative, familial", "pneumonia, desquamative interstitial, familial", "pneumonitis, desquamative interstitial, familial" ; + skos:exactMatch UMLS:C0238378 ; biolink:category biolink:Disease . OMIM:263200 a owl:Class ; @@ -407344,8 +423800,6 @@ OMIM:263200 a owl:Class ; PMID:9329956, PMID:9486961, PMID:9511976 ; - oboInOwl:hasDbXref UMLS:C0009714, - UMLS:C0085548 ; oboInOwl:hasExactSynonym "PKD4", "hepatic fibrosis, congenital", "pkd3, formerly", @@ -407355,6 +423809,8 @@ OMIM:263200 a owl:Class ; "polycystic kidney disease, autosomal recessive", "polycystic kidney disease, infantile, iia 1" ; rdfs:subClassOf OMIMPS:173900 ; + skos:exactMatch UMLS:C0009714, + UMLS:C0085548 ; biolink:category biolink:Disease . OMIM:263210 a owl:Class ; @@ -407363,10 +423819,10 @@ OMIM:263210 a owl:Class ; PMID:25966638, PMID:8465860, PMID:9426272 ; - oboInOwl:hasDbXref UMLS:C1849762 ; oboInOwl:hasExactSynonym "GIKANIS", "gillessen-kaesbach-nishimura syndrome", "polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia" ; + skos:exactMatch UMLS:C1849762 ; biolink:category biolink:Disease . OMIM:263450 a owl:Class ; @@ -407376,10 +423832,10 @@ OMIM:263450 a owl:Class ; PMID:5801468, PMID:6306160 ; RO:0002525 CHR:9606chr13q13.3-q21 ; - oboInOwl:hasDbXref UMLS:C3550661 ; oboInOwl:hasExactSynonym "PAPA5", "polydactyly, postaxial, iia a5" ; rdfs:subClassOf OMIMPS:174200 ; + skos:exactMatch UMLS:C3550661 ; biolink:category biolink:Disease . OMIM:263570 a owl:Class ; @@ -407395,10 +423851,10 @@ OMIM:263570 a owl:Class ; PMID:8274116, PMID:8494336, PMID:9851430 ; - oboInOwl:hasDbXref UMLS:C1849722 ; oboInOwl:hasExactSynonym "APBN", "polyglucosan body disease, adult form", "polyglucosan body neuropathy, adult form" ; + skos:exactMatch UMLS:C1849722 ; biolink:category biolink:Disease . OMIM:263700 a owl:Class ; @@ -407431,12 +423887,12 @@ OMIM:263700 a owl:Class ; PMID:8829650, PMID:9092747, PMID:9834209 ; - oboInOwl:hasDbXref UMLS:C0162530 ; oboInOwl:hasExactSynonym "CEP", "gunther disease", "porphyria, congenital erythropoietic", "uroporphyrinogen 3 synthase deficiency", "uros deficiency" ; + skos:exactMatch UMLS:C0162530 ; biolink:category biolink:Disease . OMIM:263750 a owl:Class ; @@ -407457,11 +423913,11 @@ OMIM:263750 a owl:Class ; PMID:5808539, PMID:7452413, PMID:8375109 ; - oboInOwl:hasDbXref UMLS:C0265257 ; oboInOwl:hasExactSynonym "POADS", "genee-wiedemann syndrome", "miller syndrome", "postaxial acrofacial dysostosis" ; + skos:exactMatch UMLS:C0265257 ; biolink:category biolink:Disease . OMIM:263800 a owl:Class ; @@ -407480,11 +423936,11 @@ OMIM:263800 a owl:Class ; PMID:8528245, PMID:945655, PMID:9700481 ; - oboInOwl:hasDbXref UMLS:C0268450 ; oboInOwl:hasExactSynonym "GTLMNS", "gitelman syndrome", "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria", "potassium and magnesium depletion" ; + skos:exactMatch UMLS:C0268450 ; biolink:category biolink:Disease . OMIM:264070 a owl:Class ; @@ -407500,23 +423956,23 @@ OMIM:264070 a owl:Class ; PMID:8352282, PMID:9585615, PMID:9760199 ; - oboInOwl:hasDbXref UMLS:C1849700, - ORPHA:1578, - ORPHA:238583 ; oboInOwl:hasExactSynonym "HPABH4D", "cadh deficiency", "hyperphenylalaninemia with primapterinuria", "hyperphenylalaninemia, bh4-deficient, d", "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency", "pcbd deficiency" ; + skos:exactMatch UMLS:C1849700, + ORPHA:1578, + ORPHA:238583 ; biolink:category biolink:Disease . OMIM:264080 a owl:Class ; rdfs:label "progesterone resistance" ; IAO:0000142 PMID:217888 ; - oboInOwl:hasDbXref UMLS:C1849699 ; oboInOwl:hasExactSynonym "progesterone resistance", - "pseudocorpus luteum insufficiency" . + "pseudocorpus luteum insufficiency" ; + skos:exactMatch UMLS:C1849699 . OMIM:264090 a owl:Class ; rdfs:label "wiedemann-rautenstrauch syndrome" ; @@ -407547,12 +424003,12 @@ OMIM:264090 a owl:Class ; PMID:8533814, PMID:9152846, PMID:9724752 ; - oboInOwl:hasDbXref UMLS:C0406586, - ORPHA:3455 ; oboInOwl:hasExactSynonym "WDRTS", "progeroid syndrome, neonatal", "wiedemann-rautenstrauch syndrome" ; rdfs:subClassOf OMIMPS:176670 ; + skos:exactMatch UMLS:C0406586, + ORPHA:3455 ; biolink:category biolink:Disease . OMIM:264300 a owl:Class ; @@ -407572,14 +424028,14 @@ OMIM:264300 a owl:Class ; PMID:8075637, PMID:8469252, PMID:8550739 ; - oboInOwl:hasDbXref UMLS:C0268296, - UMLS:C4694050 ; oboInOwl:hasExactSynonym "17-beta hydroxysteroid dehydrogenase 3 deficiency", "17-ketosteroid reductase deficiency of testis", "17-ksr deficiency", "neutral 17-beta-hydroxysteroid oxidoreductase deficiency", "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency", "pseudohermaphroditism, male, with gynecomastia" ; + skos:exactMatch UMLS:C0268296, + UMLS:C4694050 ; biolink:category biolink:Disease . OMIM:264470 a owl:Class ; @@ -407594,11 +424050,11 @@ OMIM:264470 a owl:Class ; PMID:7668838, PMID:8040306, PMID:8279468 ; - oboInOwl:hasDbXref UMLS:C1849678, - ORPHA:2971 ; oboInOwl:hasExactSynonym "peroxisomal acyl-coa oxidase deficiency", "pseudoneonatal adrenoleukodystrophy", "straight-chain acyl-coa oxidase deficiency" ; + skos:exactMatch UMLS:C1849678, + ORPHA:2971 ; biolink:category biolink:Disease . OMIM:264600 a owl:Class ; @@ -407638,13 +424094,13 @@ OMIM:264600 a owl:Class ; PMID:9467575, PMID:9745434, PMID:9843052 ; - oboInOwl:hasDbXref UMLS:C0268297, - UMLS:C4551492 ; oboInOwl:hasExactSynonym "PPSH", "familial incomplete male pseudohermaphroditism, iia 2", "male pseudohermaphroditism due to 5-alpha-reductase deficiency", "micropenis", "pseudovaginal perineoscrotal hypospadias" ; + skos:exactMatch UMLS:C0268297, + UMLS:C4551492 ; biolink:category biolink:Disease . OMIM:264700 a owl:Class ; @@ -407670,8 +424126,6 @@ OMIM:264700 a owl:Class ; PMID:9295274, PMID:9486994, PMID:9837822 ; - oboInOwl:hasDbXref UMLS:C0268689, - ORPHA:289157 ; oboInOwl:hasExactSynonym "1-alpha, 25-hydroxyvitamin d3 deficiency, selective", "1-alpha-hydroxylase deficiency", "25-hydroxycholecalciferol-1-hydroxylase deficiency", @@ -407681,6 +424135,8 @@ OMIM:264700 a owl:Class ; "vitamin d dependency, iia 1", "vitamin d hydroxylation-deficient rickets, iia 1a", "vitamin d-dependent rickets, iia 1a" ; + skos:exactMatch UMLS:C0268689, + ORPHA:289157 ; biolink:category biolink:Disease . OMIM:265000 a owl:Class ; @@ -407705,7 +424161,6 @@ OMIM:265000 a owl:Class ; PMID:7677145, PMID:8267008, PMID:933128 ; - oboInOwl:hasDbXref UMLS:C0265261 ; oboInOwl:hasExactSynonym "EVMPS", "escobar syndrome", "multiple pterygium syndrome", @@ -407714,6 +424169,7 @@ OMIM:265000 a owl:Class ; "pterygium colli syndrome", "pterygium syndrome", "pterygium universale" ; + skos:exactMatch UMLS:C0265261 ; biolink:category biolink:Disease . OMIM:265050 a owl:Class ; @@ -407726,7 +424182,6 @@ OMIM:265050 a owl:Class ; PMID:28301481, PMID:7677137, PMID:8933348 ; - oboInOwl:hasDbXref UMLS:C0796279 ; oboInOwl:hasExactSynonym "3MC2", "3mc syndrome 2", "carnevale syndrome, formerly", @@ -407734,6 +424189,7 @@ OMIM:265050 a owl:Class ; "osa syndrome", "ptosis of eyelids with diastasis recti and hip dysplasia" ; rdfs:subClassOf OMIMPS:257920 ; + skos:exactMatch UMLS:C0796279 ; biolink:category biolink:Disease . OMIM:265100 a owl:Class ; @@ -407756,9 +424212,9 @@ OMIM:265100 a owl:Class ; PMID:6341721, PMID:6824405, PMID:8493634 ; - oboInOwl:hasDbXref UMLS:C0155912 ; oboInOwl:hasExactSynonym "PULAM", "pulmonary alveolar microlithiasis" ; + skos:exactMatch UMLS:C0155912 ; biolink:category biolink:Disease . OMIM:265120 a owl:Class ; @@ -407780,13 +424236,13 @@ OMIM:265120 a owl:Class ; PMID:9042125, PMID:9793979, PMID:9927351 ; - oboInOwl:hasDbXref UMLS:C1968602 ; oboInOwl:hasExactSynonym "SMDP1", "interstitial lung disease due to surfactant protein B deficiency", "interstitial lung disease, nonspecific, due to surfactant protein B deficiency", "pulmonary alveolar proteinosis, congenital, 1", "surfactant metabolism dysfunction, pulmonary, 1" ; rdfs:subClassOf OMIMPS:265120 ; + skos:exactMatch UMLS:C1968602 ; biolink:category biolink:Disease . OMIM:265380 a owl:Class ; @@ -407804,11 +424260,11 @@ OMIM:265380 a owl:Class ; PMID:8472585, PMID:8985728, PMID:9475097 ; - oboInOwl:hasDbXref UMLS:C0031190, - ORPHA:210122 ; oboInOwl:hasExactSynonym "ACDMPV", "alveolar capillary dysplasia with misalignment of pulmonary veins", "alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies" ; + skos:exactMatch UMLS:C0031190, + ORPHA:210122 ; biolink:category biolink:Disease . OMIM:265450 a owl:Class ; @@ -407819,11 +424275,11 @@ OMIM:265450 a owl:Class ; PMID:18626305, PMID:4682413, PMID:601742 ; - oboInOwl:hasDbXref UMLS:C3887658 ; oboInOwl:hasExactSynonym "PVOD1", "pulmonary venoocclusive disease 1, autosomal dominant", "pvod" ; rdfs:subClassOf OMIMPS:265450 ; + skos:exactMatch UMLS:C3887658 ; biolink:category biolink:Disease . OMIM:265800 a owl:Class ; @@ -407851,10 +424307,10 @@ OMIM:265800 a owl:Class ; PMID:8703060, PMID:8976667, PMID:9529353 ; - oboInOwl:hasDbXref UMLS:C0238402 ; oboInOwl:hasExactSynonym "pycd", "pycnodysostosis", "pyknodysostosis" ; + skos:exactMatch UMLS:C0238402 ; biolink:category biolink:Disease . OMIM:265900 a owl:Class ; @@ -407866,11 +424322,11 @@ OMIM:265900 a owl:Class ; PMID:3612703, PMID:5440013, PMID:709903 ; - oboInOwl:hasDbXref UMLS:C0265294, - ORPHA:3005 ; oboInOwl:hasExactSynonym "PYL", "metaphyseal dysplasia, pyle iia", "pyle disease" ; + skos:exactMatch UMLS:C0265294, + ORPHA:3005 ; biolink:category biolink:Disease . OMIM:266100 a owl:Class ; @@ -407893,12 +424349,12 @@ OMIM:266100 a owl:Class ; PMID:6024470, PMID:6651254, PMID:6830153 ; - oboInOwl:hasDbXref UMLS:C1849508 ; oboInOwl:hasExactSynonym "EPD", "aasa dehydrogenase deficiency", "epilepsy, pyridoxine-dependent", "pyridoxine dependency with seizures", "pyridoxine-dependent epilepsy" ; + skos:exactMatch UMLS:C1849508 ; biolink:category biolink:Disease . OMIM:266120 a owl:Class ; @@ -407925,13 +424381,13 @@ OMIM:266120 a owl:Class ; PMID:6317231, PMID:6320196, PMID:723629 ; - oboInOwl:hasDbXref UMLS:C1849507 ; oboInOwl:hasExactSynonym "hemolytic anemia due to p5n deficiency", "hemolytic anemia due to umph1 deficiency", "p5n deficiency", "pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to", "umph1 deficiency", "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" ; + skos:exactMatch UMLS:C1849507 ; biolink:category biolink:Disease . OMIM:266150 a owl:Class ; @@ -407963,12 +424419,12 @@ OMIM:266150 a owl:Class ; PMID:9533019, PMID:9585002, PMID:9585612 ; - oboInOwl:hasDbXref UMLS:C0034341 ; oboInOwl:hasExactSynonym "ataxia with lactic acidosis 2", "leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency", "leigh syndrome due to pyruvate carboxylase deficiency", "pc deficiency", "pyruvate carboxylase deficiency" ; + skos:exactMatch UMLS:C0034341 ; biolink:category biolink:Disease . OMIM:266200 a owl:Class ; @@ -408026,11 +424482,11 @@ OMIM:266200 a owl:Class ; PMID:8664896, PMID:8807089, PMID:984043 ; - oboInOwl:hasDbXref UMLS:C0340968, - ORPHA:766 ; oboInOwl:hasExactSynonym "pk deficiency", "pyruvate kinase deficiency of erythrocyte", "pyruvate kinase deficiency of red cells" ; + skos:exactMatch UMLS:C0340968, + ORPHA:766 ; biolink:category biolink:Disease . OMIM:266300 a owl:Class ; @@ -408053,8 +424509,6 @@ OMIM:266300 a owl:Class ; PMID:8535072, PMID:8661706, PMID:8995760 ; - oboInOwl:hasDbXref UMLS:C1849452, - UMLS:C2678403 ; oboInOwl:hasExactSynonym "SHEP2", "blond hair/fair skin", "hair color 2", @@ -408063,6 +424517,8 @@ OMIM:266300 a owl:Class ; "skin/hair/eye pigmentation, variation in, 2", "uv-induced skin damage, susceptibility to" ; rdfs:subClassOf OMIMPS:227220 ; + skos:exactMatch UMLS:C1849452, + UMLS:C2678403 ; biolink:category biolink:Disease . OMIM:266510 a owl:Class ; @@ -408072,10 +424528,10 @@ OMIM:266510 a owl:Class ; PMID:2122101, PMID:22871920, PMID:8060102 ; - oboInOwl:hasDbXref UMLS:C3550693 ; oboInOwl:hasExactSynonym "PBD3B", "peroxisome biogenesis disorder 3b" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3550693 ; biolink:category biolink:Disease . OMIM:266900 a owl:Class ; @@ -408104,7 +424560,6 @@ OMIM:266900 a owl:Class ; PMID:8008515, PMID:920253, PMID:9856524 ; - oboInOwl:hasDbXref UMLS:C4551559 ; oboInOwl:hasExactSynonym "SLSN1", "juvenile nephronophthisis with leber amaurosis", "loken-senior syndrome", @@ -408113,6 +424568,7 @@ OMIM:266900 a owl:Class ; "senior-loken syndrome", "senior-loken syndrome 1" ; rdfs:subClassOf OMIMPS:266900 ; + skos:exactMatch UMLS:C4551559 ; biolink:category biolink:Disease . OMIM:266920 a owl:Class ; @@ -408130,13 +424586,13 @@ OMIM:266920 a owl:Class ; PMID:431989, PMID:4991086, PMID:7747734 ; - oboInOwl:hasDbXref UMLS:C1849437 ; oboInOwl:hasExactSynonym "SRTD9", "conorenal syndrome", "mainzer-saldino syndrome", "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia", "short-rib thoracic dysplasia 9 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C1849437 ; biolink:category biolink:Disease . OMIM:267000 a owl:Class ; @@ -408154,11 +424610,11 @@ OMIM:267000 a owl:Class ; PMID:4315293, PMID:4353457, PMID:6093533 ; - oboInOwl:hasDbXref UMLS:C0796113 ; oboInOwl:hasExactSynonym "PRLMNS", "nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor", "perlman syndrome", "renal hamartomas, nephroblastomatosis, and fetal gigantism" ; + skos:exactMatch UMLS:C0796113 ; biolink:category biolink:Disease . OMIM:267300 a owl:Class ; @@ -408178,16 +424634,16 @@ OMIM:267300 a owl:Class ; PMID:6777336, PMID:7387165, PMID:9916796 ; - oboInOwl:hasDbXref UMLS:C0403554, - UMLS:C4016429, - ORPHA:18, - ORPHA:402041 ; oboInOwl:hasExactSynonym "DRTA2", "renal tubular acidosis with progressive nerve deafness", "renal tubular acidosis, autosomal recessive, with progressive nerve deafness", "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss", "rta with progressive nerve deafness" ; rdfs:subClassOf OMIMPS:179800 ; + skos:exactMatch UMLS:C0403554, + UMLS:C4016429, + ORPHA:18, + ORPHA:402041 ; biolink:category biolink:Disease . OMIM:267500 a owl:Class ; @@ -408202,7 +424658,6 @@ OMIM:267500 a owl:Class ; PMID:5722637, PMID:6132037, PMID:956962 ; - oboInOwl:hasDbXref UMLS:C0272167 ; oboInOwl:hasExactSynonym "aleukocytosis", "congenital aleukia", "hematopoietic hypoplasia, generalized", @@ -408210,6 +424665,7 @@ OMIM:267500 a owl:Class ; "reticular dysgenesia", "reticular dysgenesis", "severe combined immunodeficiency with leukopenia" ; + skos:exactMatch UMLS:C0272167 ; biolink:category biolink:Disease . OMIM:267700 a owl:Class ; @@ -408266,9 +424722,6 @@ OMIM:267700 a owl:Class ; PMID:9915956 ; RO:0002525 CHR:9606chr9q21.3-q22 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C0272199, - UMLS:C4551514, - ORPHA:540 ; oboInOwl:hasExactSynonym "FHL1", "erythrophagocytic lymphohistiocytosis, familial", "hemophagocytic lymphohistiocytosis, familial", @@ -408278,6 +424731,9 @@ OMIM:267700 a owl:Class ; "hplh1", "reticulosis, familial histiocytic" ; rdfs:subClassOf OMIMPS:267700 ; + skos:exactMatch UMLS:C0272199, + UMLS:C4551514, + ORPHA:540 ; biolink:category biolink:Disease . OMIM:268130 a owl:Class ; @@ -408286,11 +424742,11 @@ OMIM:268130 a owl:Class ; PMID:18252230, PMID:21477109, PMID:8160728 ; - oboInOwl:hasDbXref UMLS:C1327916 ; oboInOwl:hasExactSynonym "dyskeratosis congenita, autosomal dominant 5", "exudative retinopathy with bone marrow failure", "revesz syndrome" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C1327916 ; biolink:category biolink:Disease . OMIM:268200 a owl:Class ; @@ -408300,10 +424756,10 @@ OMIM:268200 a owl:Class ; PMID:1544519, PMID:18817903, PMID:6851679 ; - oboInOwl:hasDbXref UMLS:C1849386 ; oboInOwl:hasExactSynonym "myoglobinuria, acute recurrent, autosomal recessive", "myoglobinuria, familial paroxysmal paralytic", "rhabdomyolysis, acute recurrent" ; + skos:exactMatch UMLS:C1849386 ; biolink:category biolink:Disease . OMIM:268210 a owl:Class ; @@ -408318,11 +424774,11 @@ OMIM:268210 a owl:Class ; PMID:3657988, PMID:7981680, PMID:9520460 ; - oboInOwl:hasDbXref UMLS:C1849385 ; oboInOwl:hasExactSynonym "RMSE1", "rhabdomyosarcoma 1", "rhabdomyosarcoma chromosomal region", "rhabdomyosarcoma, embryonal, 1" ; + skos:exactMatch UMLS:C1849385 ; biolink:category biolink:Disease . OMIM:268305 a owl:Class ; @@ -408339,10 +424795,10 @@ OMIM:268305 a owl:Class ; PMID:24360810, PMID:8267000, PMID:8989456 ; - oboInOwl:hasDbXref UMLS:C1849348, - ORPHA:3102 ; oboInOwl:hasExactSynonym "richieri-costa-pereira syndrome", "robin sequence with cleft mandible and limb anomalies" ; + skos:exactMatch UMLS:C1849348, + ORPHA:3102 ; biolink:category biolink:Disease . OMIM:268310 a owl:Class ; @@ -408374,9 +424830,6 @@ OMIM:268310 a owl:Class ; PMID:9383028, PMID:9738864, PMID:9826209 ; - oboInOwl:hasDbXref UMLS:C1849334, - UMLS:C3151609, - UMLS:C3151610 ; oboInOwl:hasExactSynonym "RRS1", "costovertebral segmentation defect with mesomelia, formerly", "covesdem syndrome, formerly", @@ -408384,14 +424837,17 @@ OMIM:268310 a owl:Class ; "robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals", "robinow syndrome, autosomal recessive, with brachy-syn-polydactyly" ; rdfs:subClassOf OMIMPS:268310 ; + skos:exactMatch UMLS:C1849334, + UMLS:C3151609, + UMLS:C3151610 ; biolink:category biolink:Disease . OMIM:268315 a owl:Class ; rdfs:label "rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction" ; IAO:0000142 PMID:8279480 ; - oboInOwl:hasDbXref UMLS:C1849333 ; oboInOwl:hasExactSynonym "RCDFRD", "rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction" ; + skos:exactMatch UMLS:C1849333 ; biolink:category biolink:Disease . OMIM:268800 a owl:Class ; @@ -408439,16 +424895,16 @@ OMIM:268800 a owl:Class ; PMID:8896570, PMID:9103204, PMID:9302266 ; - oboInOwl:hasDbXref UMLS:C0036161, - UMLS:C1849320, - UMLS:C1849321, - UMLS:C1849322 ; oboInOwl:hasExactSynonym "gm2-gangliosidosis, iia 2", "hexosaminidases a and B deficiency", "sandhoff disease", "sandhoff disease, adult iia", "sandhoff disease, infantile iia", "sandhoff disease, juvenile iia" ; + skos:exactMatch UMLS:C0036161, + UMLS:C1849320, + UMLS:C1849321, + UMLS:C1849322 ; biolink:category biolink:Disease . OMIM:268900 a owl:Class ; @@ -408463,13 +424919,13 @@ OMIM:268900 a owl:Class ; PMID:6192074, PMID:6207480, PMID:9323574 ; - oboInOwl:hasDbXref UMLS:C0268563 ; oboInOwl:hasExactSynonym "SARCOS", "hypersarcosinemia", "sarcosine dehydrogenase complex deficiency", "sarcosinemia", "sard deficiency", "sardh deficiency" ; + skos:exactMatch UMLS:C0268563 ; biolink:category biolink:Disease . OMIM:269150 a owl:Class ; @@ -408495,9 +424951,9 @@ OMIM:269150 a owl:Class ; PMID:8723563, PMID:8849020, PMID:9738870 ; - oboInOwl:hasDbXref UMLS:C0265227 ; oboInOwl:hasExactSynonym "schinzel-giedion midface retraction syndrome", "sgs" ; + skos:exactMatch UMLS:C0265227 ; biolink:category biolink:Disease . OMIM:269250 a owl:Class ; @@ -408511,10 +424967,10 @@ OMIM:269250 a owl:Class ; PMID:4103426, PMID:4120916, PMID:4553206 ; - oboInOwl:hasDbXref UMLS:C0432194 ; oboInOwl:hasExactSynonym "SHNKND", "chondrodysplasia, lethal neonatal, with snail-like pelvis", "schneckenbecken dysplasia" ; + skos:exactMatch UMLS:C0432194 ; biolink:category biolink:Disease . OMIM:269300 a owl:Class ; @@ -408524,9 +424980,9 @@ OMIM:269300 a owl:Class ; PMID:2000503, PMID:20684007, PMID:9605592 ; - oboInOwl:hasDbXref UMLS:C0265292 ; oboInOwl:hasExactSynonym "CRMDD", "craniometadiaphyseal dysplasia" ; + skos:exactMatch UMLS:C0265292 ; biolink:category biolink:Disease . OMIM:269400 a owl:Class ; @@ -408538,12 +424994,12 @@ OMIM:269400 a owl:Class ; PMID:27839872, PMID:3994576, PMID:4954614 ; - oboInOwl:hasDbXref UMLS:C3151617 ; oboInOwl:hasExactSynonym "ASGD7", "anterior segment dysgenesis 7", "corneal opacification with other ocular anomalies", "sclerocornea with other ocular anomalies" ; rdfs:subClassOf OMIMPS:107250 ; + skos:exactMatch UMLS:C3151617 ; biolink:category biolink:Disease . OMIM:269500 a owl:Class ; @@ -408567,12 +425023,12 @@ OMIM:269500 a owl:Class ; PMID:7404164, PMID:9463328, PMID:9712543 ; - oboInOwl:hasDbXref UMLS:C4551483 ; oboInOwl:hasExactSynonym "SOST1", "cortical hyperostosis with syndactyly", "sclerosteosis 1", "sost" ; rdfs:subClassOf OMIMPS:269500 ; + skos:exactMatch UMLS:C4551483 ; biolink:category biolink:Disease . OMIM:269700 a owl:Class ; @@ -408587,7 +425043,6 @@ OMIM:269700 a owl:Class ; PMID:19041432, PMID:26072926, PMID:8783769 ; - oboInOwl:hasDbXref UMLS:C1720863 ; oboInOwl:hasExactSynonym "CGL2", "berardinelli syndrome", "berardinelli-seip congenital lipodystrophy, iia 2", @@ -408598,6 +425053,7 @@ OMIM:269700 a owl:Class ; "lipodystrophy, total, and acromegaloid gigantism", "seip syndrome" ; rdfs:subClassOf OMIMPS:608594 ; + skos:exactMatch UMLS:C1720863 ; biolink:category biolink:Disease . OMIM:269840 a owl:Class ; @@ -408607,11 +425063,11 @@ OMIM:269840 a owl:Class ; PMID:2511270, PMID:8124727, PMID:8202712 ; - oboInOwl:hasDbXref UMLS:C2931299 ; oboInOwl:hasExactSynonym "IMD48", "immunodeficiency 48", "selective t-cell defect" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C2931299 ; biolink:category biolink:Disease . OMIM:269920 a owl:Class ; @@ -408640,13 +425096,13 @@ OMIM:269920 a owl:Class ; PMID:7573051, PMID:7573152, PMID:8198127 ; - oboInOwl:hasDbXref UMLS:C1096902, - UMLS:C2930923 ; oboInOwl:hasExactSynonym "ISSD", "infantile sialic acid storage disease", "n-acetylneuraminic acid storage disease", "nana storage disease", "sialuria, infantile form" ; + skos:exactMatch UMLS:C1096902, + UMLS:C2930923 ; biolink:category biolink:Disease . OMIM:269921 a owl:Class ; @@ -408663,9 +425119,9 @@ OMIM:269921 a owl:Class ; PMID:444571, PMID:5658957, PMID:8439453 ; - oboInOwl:hasDbXref UMLS:C0342853 ; oboInOwl:hasExactSynonym "sialuria", "sialuria, french iia" ; + skos:exactMatch UMLS:C0342853 ; biolink:category biolink:Disease . OMIM:270100 a owl:Class ; @@ -408676,13 +425132,13 @@ OMIM:270100 a owl:Class ; PMID:3812559, PMID:9354777, PMID:9354794 ; - oboInOwl:hasDbXref UMLS:C0037221, - UMLS:C3495537, - ORPHA:450 ; oboInOwl:hasExactSynonym "HTX5", "heterotaxy, visceral, 5, autosomal", "situs inversus viscerum, formerly" ; rdfs:subClassOf OMIMPS:306955 ; + skos:exactMatch UMLS:C0037221, + UMLS:C3495537, + ORPHA:450 ; biolink:category biolink:Disease . OMIM:270200 a owl:Class ; @@ -408712,13 +425168,13 @@ OMIM:270200 a owl:Class ; PMID:7894487, PMID:9027499, PMID:9829906 ; - oboInOwl:hasDbXref UMLS:C0037231 ; oboInOwl:hasExactSynonym "SLS", "faldh deficiency", "fatty alcohol:nad+ oxidoreductase deficiency", "fatty aldehyde dehydrogenase deficiency", "ichthyosis, spastic neurologic disorder, and oligophrenia", "sjogren-larsson syndrome" ; + skos:exactMatch UMLS:C0037231 ; biolink:category biolink:Disease . OMIM:270300 a owl:Class ; @@ -408734,7 +425190,6 @@ OMIM:270300 a owl:Class ; PMID:6224454, PMID:6840371, PMID:7142468 ; - oboInOwl:hasDbXref UMLS:C1849193 ; oboInOwl:hasExactSynonym "PSS1", "deciduous skin", "keratolysis exfoliativa congenita", @@ -408742,6 +425197,7 @@ OMIM:270300 a owl:Class ; "pss", "skin peeling, familial continuous generalized" ; rdfs:subClassOf OMIMPS:270300 ; + skos:exactMatch UMLS:C1849193 ; biolink:category biolink:Disease . OMIM:270420 a owl:Class ; @@ -408757,12 +425213,12 @@ OMIM:270420 a owl:Class ; PMID:2860286, PMID:30445423, PMID:3880821 ; - oboInOwl:hasDbXref UMLS:C0267663 ; oboInOwl:hasExactSynonym "DIAR3", "diarrhea 3, secretory sodium, congenital, syndromic", "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies", "sodium diarrhea, congenital" ; rdfs:subClassOf OMIMPS:214700 ; + skos:exactMatch UMLS:C0267663 ; biolink:category biolink:Disease . OMIM:270960 a owl:Class ; @@ -408777,8 +425233,6 @@ OMIM:270960 a owl:Class ; PMID:6800930, PMID:6893401, PMID:7446525 ; - oboInOwl:hasDbXref UMLS:C0232981, - UMLS:C3279437 ; oboInOwl:hasExactSynonym "SPGF4", "azoospermia due to perturbations of meiosis", "azoospermia with maturation arrest", @@ -408786,6 +425240,8 @@ OMIM:270960 a owl:Class ; "spermatogenesis arrest", "spermatogenic failure 4" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C0232981, + UMLS:C3279437 ; biolink:category biolink:Disease . OMIM:270970 a owl:Class ; @@ -408800,10 +425256,10 @@ OMIM:270970 a owl:Class ; PMID:6841965, PMID:7070419, PMID:8941647 ; - oboInOwl:hasDbXref UMLS:C2678338 ; oboInOwl:hasExactSynonym "SPH3", "spherocytosis, iia 3", "spherocytosis, hereditary, 3" ; + skos:exactMatch UMLS:C2678338 ; biolink:category biolink:Disease . OMIM:271150 a owl:Class ; @@ -408819,11 +425275,11 @@ OMIM:271150 a owl:Class ; PMID:7658877, PMID:8551862, PMID:8595417 ; - oboInOwl:hasDbXref UMLS:C1838230 ; oboInOwl:hasExactSynonym "SMA4", "spinal muscular atrophy, iia 4", "spinal muscular atrophy, adult form", "spinal muscular atrophy, proximal, adult, autosomal recessive" ; + skos:exactMatch UMLS:C1838230 ; biolink:category biolink:Disease . OMIM:271245 a owl:Class ; @@ -408837,7 +425293,6 @@ OMIM:271245 a owl:Class ; PMID:7726163, PMID:8133312, PMID:9027505 ; - oboInOwl:hasDbXref UMLS:C1849096 ; oboInOwl:hasExactSynonym "MTDPS7", "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)", "ohaha syndrome", @@ -408846,6 +425301,7 @@ OMIM:271245 a owl:Class ; "spinocerebellar ataxia, infantile, with sensory neuropathy", "spinocerebellar ataxia, infantile-onset" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C1849096 ; biolink:category biolink:Disease . OMIM:271250 a owl:Class ; @@ -408854,11 +425310,11 @@ OMIM:271250 a owl:Class ; PMID:4154794, PMID:4434170 ; RO:0002525 CHR:9606chr6p23-p21 ; - oboInOwl:hasDbXref UMLS:C1849094 ; oboInOwl:hasExactSynonym "SCAR3", "spinocerebellar ataxia with blindness and deafness", "spinocerebellar ataxia, autosomal recessive 3" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C1849094 ; biolink:category biolink:Disease . OMIM:271400 a owl:Class ; @@ -408875,12 +425331,12 @@ OMIM:271400 a owl:Class ; PMID:7747770, PMID:7908720, PMID:9162158 ; - oboInOwl:hasDbXref UMLS:C0685889 ; oboInOwl:hasExactSynonym "ICAS", "asplenia, familial", "asplenia, isolated congenital", "hyposplenia, isolated congenital", "splenic hypoplasia" ; + skos:exactMatch UMLS:C0685889 ; biolink:category biolink:Disease . OMIM:271510 a owl:Class ; @@ -408896,13 +425352,13 @@ OMIM:271510 a owl:Class ; PMID:30773278, PMID:6618893, PMID:8723082 ; - oboInOwl:hasDbXref UMLS:C1300260, - ORPHA:93357 ; oboInOwl:hasExactSynonym "SEMDSP", "short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation", "sponastrime dysplasia", "spondylar and nasal alterations with striated metaphyses", "spondyloepimetaphyseal dysplasia, sponastrime iia" ; + skos:exactMatch UMLS:C1300260, + ORPHA:93357 ; biolink:category biolink:Disease . OMIM:271640 a owl:Class ; @@ -408922,12 +425378,12 @@ OMIM:271640 a owl:Class ; PMID:8588592, PMID:8669438, PMID:9678701 ; - oboInOwl:hasDbXref UMLS:C0432243, - ORPHA:93359 ; oboInOwl:hasExactSynonym "SEMDJL1", "semdjl", "spondyloepimetaphyseal dysplasia with joint laxity, iia 1, with or without fractures" ; rdfs:subClassOf OMIMPS:271640 ; + skos:exactMatch UMLS:C0432243, + ORPHA:93359 ; biolink:category biolink:Disease . OMIM:271900 a owl:Class ; @@ -408958,7 +425414,6 @@ OMIM:271900 a owl:Class ; PMID:8023850, PMID:8223809, PMID:8252036 ; - oboInOwl:hasDbXref UMLS:C0206307 ; oboInOwl:hasExactSynonym "acy2 deficiency", "aminoacylase 2 deficiency", "asp deficiency", @@ -408967,6 +425422,7 @@ OMIM:271900 a owl:Class ; "canavan disease", "canavan-van bogaert-bertrand disease", "spongy degeneration of central nervous system" ; + skos:exactMatch UMLS:C0206307 ; biolink:category biolink:Disease . OMIM:271930 a owl:Class ; @@ -408978,13 +425434,13 @@ OMIM:271930 a owl:Class ; PMID:4743881, PMID:5805975, PMID:8554662 ; - oboInOwl:hasDbXref UMLS:C0795996 ; oboInOwl:hasExactSynonym "SNDI", "bilateral striatal necrosis, infantile", "infantile bilateral striatal necrosis", "striatal degeneration, familial", "striatonigral degeneration, infantile" ; rdfs:subClassOf OMIMPS:271930 ; + skos:exactMatch UMLS:C0795996 ; biolink:category biolink:Disease . OMIM:271980 a owl:Class ; @@ -409008,14 +425464,14 @@ OMIM:271980 a owl:Class ; PMID:9266358, PMID:9553943, PMID:9683595 ; - oboInOwl:hasDbXref UMLS:C0268631, - ORPHA:22 ; oboInOwl:hasExactSynonym "4-hydroxybutyric aciduria", "SSADHD", "gaba metabolic defect", "gamma-hydroxybutyric aciduria", "ssadh deficiency", "succinic semialdehyde dehydrogenase deficiency" ; + skos:exactMatch UMLS:C0268631, + ORPHA:22 ; biolink:category biolink:Disease . OMIM:272120 a owl:Class ; @@ -409056,9 +425512,9 @@ OMIM:272120 a owl:Class ; PMID:947572, PMID:9624190, PMID:9627580 ; - oboInOwl:hasDbXref UMLS:C0038644 ; oboInOwl:hasExactSynonym "sids", "sudden infant death syndrome" ; + skos:exactMatch UMLS:C0038644 ; biolink:category biolink:Disease . OMIM:272200 a owl:Class ; @@ -409090,12 +425546,12 @@ OMIM:272200 a owl:Class ; PMID:7262633, PMID:7628016, PMID:9686814 ; - oboInOwl:hasDbXref UMLS:C0268263, - ORPHA:585 ; oboInOwl:hasExactSynonym "MSD", "mucosulfatidosis", "multiple sulfatase deficiency", "sulfatidosis, juvenile, austin iia" ; + skos:exactMatch UMLS:C0268263, + ORPHA:585 ; biolink:category biolink:Disease . OMIM:272300 a owl:Class ; @@ -409115,12 +425571,12 @@ OMIM:272300 a owl:Class ; PMID:9428520, PMID:956384, PMID:9600976 ; - oboInOwl:hasDbXref UMLS:C2931746, - ORPHA:833, - ORPHA:99731 ; oboInOwl:hasExactSynonym "ISOD", "sulfite oxidase deficiency, isolated", "sulfocysteinuria" ; + skos:exactMatch UMLS:C2931746, + ORPHA:833, + ORPHA:99731 ; biolink:category biolink:Disease . OMIM:272370 a owl:Class ; @@ -409128,10 +425584,10 @@ OMIM:272370 a owl:Class ; IAO:0000142 PMID:1694227, PMID:1979875 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C1848953 ; oboInOwl:hasExactSynonym "EC1", "natural killer cell susceptibility 1", "susceptibility to lysis by alloreactive natural killer cells" ; + skos:exactMatch UMLS:C1848953 ; biolink:category biolink:Disease . OMIM:272460 a owl:Class ; @@ -409149,13 +425605,13 @@ OMIM:272460 a owl:Class ; PMID:641096, PMID:8030662, PMID:9557886 ; - oboInOwl:hasDbXref UMLS:C1848934 ; oboInOwl:hasExactSynonym "SCT", "scoliosis, congenital, with unilateral unsegmented bar", "spondylocarpotarsal syndrome", "spondylocarpotarsal synostosis syndrome", "synspondylism, congenital", "vertebral fusion with carpal coalition" ; + skos:exactMatch UMLS:C1848934 ; biolink:category biolink:Disease . OMIM:272750 a owl:Class ; @@ -409172,12 +425628,12 @@ OMIM:272750 a owl:Class ; PMID:9223328, PMID:9932959, PMID:99746 ; - oboInOwl:hasDbXref UMLS:C0268275 ; oboInOwl:hasExactSynonym "ab variant gm2-gangliosidosis", "gm2 activator deficiency", "gm2-gangliosidosis, ab variant", "hexosaminidase activator deficiency", "tay-sachs disease, ab variant" ; + skos:exactMatch UMLS:C0268275 ; biolink:category biolink:Disease . OMIM:273900 a owl:Class ; @@ -409189,13 +425645,13 @@ OMIM:273900 a owl:Class ; PMID:25876182, PMID:5818913, PMID:5901871 ; - oboInOwl:hasDbXref UMLS:C2678311, - ORPHA:168629, - ORPHA:268322 ; oboInOwl:hasExactSynonym "THC3", "thrombocytopenia 3", "thrombocytopenia, autosomal recessive, 3" ; rdfs:subClassOf OMIMPS:313900 ; + skos:exactMatch UMLS:C2678311, + ORPHA:168629, + ORPHA:268322 ; biolink:category biolink:Disease . OMIM:274000 a owl:Class ; @@ -409235,12 +425691,12 @@ OMIM:274000 a owl:Class ; PMID:8666395, PMID:947152, PMID:9827898 ; - oboInOwl:hasDbXref UMLS:C0175703, - ORPHA:3320 ; oboInOwl:hasExactSynonym "TAR", "chromosome 1q21.1 deletion syndrome, 200-kb", "tar syndrome", "thrombocytopenia-absent radius syndrome" ; + skos:exactMatch UMLS:C0175703, + ORPHA:3320 ; biolink:category biolink:Disease . OMIM:274270 a owl:Class ; @@ -409268,14 +425724,14 @@ OMIM:274270 a owl:Class ; PMID:9470816, PMID:9714435, PMID:9816152 ; - oboInOwl:hasDbXref UMLS:C0274576, - UMLS:C1959620 ; oboInOwl:hasExactSynonym "5-fluorouracil toxicity", "dihydropyrimidine dehydrogenase deficiency", "dpd deficiency", "dpyd deficiency", "pyrimidinemia, familial", "thymine-uraciluria, hereditary" ; + skos:exactMatch UMLS:C0274576, + UMLS:C1959620 ; biolink:category biolink:Disease . OMIM:274400 a owl:Class ; @@ -409289,12 +425745,12 @@ OMIM:274400 a owl:Class ; PMID:576528, PMID:9171822, PMID:9745458 ; - oboInOwl:hasDbXref UMLS:C1848805 ; oboInOwl:hasExactSynonym "TDH1", "hypothyroidism, congenital, due to dyshormonogenesis, 1", "iodine accumulation, transport, or trapping defect", "thyroid dyshormonogenesis 1", "thyroid hormonogenesis, genetic defect in, 1" ; + skos:exactMatch UMLS:C1848805 ; biolink:category biolink:Disease . OMIM:274500 a owl:Class ; @@ -409325,13 +425781,13 @@ OMIM:274500 a owl:Class ; PMID:8027236, PMID:8964831, PMID:9814507 ; - oboInOwl:hasDbXref UMLS:C1291299 ; oboInOwl:hasExactSynonym "TDH2A", "hypothyroidism, congenital, due to dyshormonogenesis, 2a", "iodide peroxidase deficiency", "thyroid dyshormonogenesis 2a", "thyroid hormonogenesis, genetic defect in, 2a", "thyroid peroxidase deficiency" ; + skos:exactMatch UMLS:C1291299 ; biolink:category biolink:Disease . OMIM:274600 a owl:Class ; @@ -409379,7 +425835,6 @@ OMIM:274600 a owl:Class ; PMID:9585042, PMID:9604973, PMID:9920104 ; - oboInOwl:hasDbXref UMLS:C0271829 ; oboInOwl:hasExactSynonym "PDS", "deafness with goiter", "goiter-deafness syndrome", @@ -409387,6 +425842,7 @@ OMIM:274600 a owl:Class ; "pendred syndrome", "thyroid dyshormonogenesis 2b", "thyroid hormonogenesis, genetic defect in, 2b" ; + skos:exactMatch UMLS:C0271829 ; biolink:category biolink:Disease . OMIM:274800 a owl:Class ; @@ -409399,23 +425855,23 @@ OMIM:274800 a owl:Class ; PMID:4135480, PMID:4994830, PMID:838849 ; - oboInOwl:hasDbXref UMLS:C0342195 ; oboInOwl:hasExactSynonym "TDH4", "deiodinase deficiency", "hypothyroidism, congenital, due to dyshormonogenesis, 4", "iodotyrosine dehalogenase deficiency", "thyroid dyshormonogenesis 4", "thyroid hormonogenesis, genetic defect in, 4" ; + skos:exactMatch UMLS:C0342195 ; biolink:category biolink:Disease . OMIM:274900 a owl:Class ; rdfs:label "thyroid dyshormonogenesis 5" ; IAO:0000142 PMID:18042646 ; - oboInOwl:hasDbXref UMLS:C0342196 ; oboInOwl:hasExactSynonym "TDH5", "hypothyroidism, congenital, due to dyshormonogenesis, 5", "thyroid dyshormonogenesis 5", "thyroid hormonogenesis, genetic defect in, 5" ; + skos:exactMatch UMLS:C0342196 ; biolink:category biolink:Disease . OMIM:275000 a owl:Class ; @@ -409457,12 +425913,12 @@ OMIM:275000 a owl:Class ; PMID:9745443, PMID:9768636 ; RO:0002525 CHR:9606chr14q31 ; - oboInOwl:hasDbXref UMLS:C1848795 ; oboInOwl:hasExactSynonym "GRD1", "graves disease, susceptibility to, 1", "grd", "hyperthyroidism, autoimmune", "thyrotoxicosis" ; + skos:exactMatch UMLS:C1848795 ; biolink:category biolink:Disease . OMIM:275100 a owl:Class ; @@ -409488,8 +425944,6 @@ OMIM:275100 a owl:Class ; PMID:809459, PMID:8636437, PMID:9589689 ; - oboInOwl:hasDbXref UMLS:C0271789, - UMLS:C1848794 ; oboInOwl:hasExactSynonym "CHNG4", "hypothyroidism, congenital, nongoitrous, 4", "pituitary cretinism", @@ -409498,6 +425952,8 @@ OMIM:275100 a owl:Class ; "thyrotropin, biologically inactive", "tsh deficiency" ; rdfs:subClassOf OMIMPS:275200 ; + skos:exactMatch UMLS:C0271789, + UMLS:C1848794 ; biolink:category biolink:Disease . OMIM:275120 a owl:Class ; @@ -409506,10 +425962,10 @@ OMIM:275120 a owl:Class ; PMID:4627366, PMID:6432893, PMID:6816148 ; - oboInOwl:hasDbXref UMLS:C3887992 ; oboInOwl:hasExactSynonym "hypothalamic hypothyroidism", "thyrotropin-releasing hormone deficiency", "trh deficiency" ; + skos:exactMatch UMLS:C3887992 ; biolink:category biolink:Disease . OMIM:275210 a owl:Class ; @@ -409540,7 +425996,6 @@ OMIM:275210 a owl:Class ; PMID:8291564, PMID:8444237, PMID:9217218 ; - oboInOwl:hasDbXref UMLS:C0406585 ; oboInOwl:hasExactSynonym "RSDM1", "fetal hypokinesia sequence due to restrictive dermopathy", "hyperkeratosis-contracture syndrome", @@ -409548,6 +426003,7 @@ OMIM:275210 a owl:Class ; "restrictive dermopathy 1, lethal", "tight skin contracture syndrome, lethal" ; rdfs:subClassOf OMIMPS:275210 ; + skos:exactMatch UMLS:C0406585 ; biolink:category biolink:Disease . OMIM:275220 a owl:Class ; @@ -409560,10 +426016,10 @@ OMIM:275220 a owl:Class ; PMID:6711611, PMID:6984841 ; RO:0002525 CHR:9606chr8q24.1 ; - oboInOwl:hasDbXref UMLS:C0265633 ; oboInOwl:hasExactSynonym "thm", "tibia, absence of", - "tibial hemimelia" . + "tibial hemimelia" ; + skos:exactMatch UMLS:C0265633 . OMIM:275350 a owl:Class ; rdfs:label "transcobalamin 2 deficiency" ; @@ -409596,10 +426052,10 @@ OMIM:275350 a owl:Class ; PMID:7421948, PMID:7849710, PMID:8362900 ; - oboInOwl:hasDbXref UMLS:C0342701 ; oboInOwl:hasExactSynonym "tc 2 deficiency", "tcn2 deficiency", "transcobalamin 2 deficiency" ; + skos:exactMatch UMLS:C0342701 ; biolink:category biolink:Disease . OMIM:275630 a owl:Class ; @@ -409617,8 +426073,6 @@ OMIM:275630 a owl:Class ; PMID:5330405, PMID:545139, PMID:7362208 ; - oboInOwl:hasDbXref UMLS:C0268238, - ORPHA:98907 ; oboInOwl:hasExactSynonym "CDS", "chanarin-dorfman disease", "chanarin-dorfman syndrome", @@ -409627,6 +426081,8 @@ OMIM:275630 a owl:Class ; "ichthyotic neutral lipid storage disease", "neutral lipid storage disease with ichthyosis", "triglyceride storage disease with impaired long-chain fatty acid oxidation" ; + skos:exactMatch UMLS:C0268238, + ORPHA:98907 ; biolink:category biolink:Disease . OMIM:275900 a owl:Class ; @@ -409638,13 +426094,13 @@ OMIM:275900 a owl:Class ; PMID:26003402, PMID:27112432, PMID:6022528 ; - oboInOwl:hasDbXref UMLS:C0393559 ; oboInOwl:hasExactSynonym "SPG20", "spastic paraparesis, childhood-onset, with distal muscle wasting", "spastic paraplegia 20, autosomal recessive", "spastic paraplegia, autosomal recessive, troyer iia", "troyer syndrome" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C0393559 ; biolink:category biolink:Disease . OMIM:276300 a owl:Class ; @@ -409679,9 +426135,6 @@ OMIM:276300 a owl:Class ; PMID:9215849, PMID:9426707, PMID:9927033 ; - oboInOwl:hasDbXref UMLS:C0265325, - UMLS:C5399763, - ORPHA:252202 ; oboInOwl:hasExactSynonym "MMRCS1", "brain tumor-polyposis syndrome 1", "btp1 syndrome", @@ -409692,6 +426145,9 @@ OMIM:276300 a owl:Class ; "mmr deficiency", "turcot syndrome" ; rdfs:subClassOf OMIMPS:276300 ; + skos:exactMatch UMLS:C0265325, + UMLS:C5399763, + ORPHA:252202 ; biolink:category biolink:Disease . OMIM:276400 a owl:Class ; @@ -409714,10 +426170,10 @@ OMIM:276400 a owl:Class ; PMID:8741868, PMID:8741871, PMID:9707112 ; - oboInOwl:hasDbXref UMLS:C0220761, - UMLS:C1848715 ; oboInOwl:hasExactSynonym "ovarian response to fsh stimulation", "twinning, dizygotic" ; + skos:exactMatch UMLS:C0220761, + UMLS:C1848715 ; biolink:category biolink:Disease . OMIM:276600 a owl:Class ; @@ -409741,8 +426197,6 @@ OMIM:276600 a owl:Class ; PMID:6446465, PMID:6453606, PMID:8912606 ; - oboInOwl:hasDbXref UMLS:C0268487, - ORPHA:28378 ; oboInOwl:hasExactSynonym "TYRSN2", "keratosis palmoplantaris with corneal dystrophy", "oregon iia tyrosinemia", @@ -409753,6 +426207,8 @@ OMIM:276600 a owl:Class ; "tyrosinemia, iia 2", "tyrosinosis, oculocutaneous iia" ; rdfs:subClassOf OMIMPS:276700 ; + skos:exactMatch UMLS:C0268487, + ORPHA:28378 ; biolink:category biolink:Disease . OMIM:276700 a owl:Class ; @@ -409819,14 +426275,14 @@ OMIM:276700 a owl:Class ; PMID:9689118, PMID:9728331, PMID:9770534 ; - oboInOwl:hasDbXref UMLS:C0268490, - ORPHA:882 ; oboInOwl:hasExactSynonym "TYRSN1", "fah deficiency", "fumarylacetoacetase deficiency", "hepatorenal tyrosinemia", "tyrosinemia, iia 1" ; rdfs:subClassOf OMIMPS:276700 ; + skos:exactMatch UMLS:C0268490, + ORPHA:882 ; biolink:category biolink:Disease . OMIM:276820 a owl:Class ; @@ -409848,28 +426304,28 @@ OMIM:276820 a owl:Class ; PMID:8411080, PMID:8423610, PMID:8423611 ; - oboInOwl:hasDbXref UMLS:C1848651 ; oboInOwl:hasExactSynonym "Schinzel phocomelia syndrome", "al-awadi/raas-rothschild syndrome", "limb/pelvis-hypoplasia/aplasia syndrome", "ulna and fibula, absence of, with severe limb deficiency" ; + skos:exactMatch UMLS:C1848651 ; biolink:category biolink:Disease . OMIM:276821 a owl:Class ; rdfs:label "ulnar hypoplasia with mental retardation" ; IAO:0000142 PMID:7625433 ; - oboInOwl:hasDbXref UMLS:C1848650 ; oboInOwl:hasExactSynonym "mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation", - "ulnar hypoplasia with mental retardation" . + "ulnar hypoplasia with mental retardation" ; + skos:exactMatch UMLS:C1848650 . OMIM:276880 a owl:Class ; rdfs:label "urocanase deficiency" ; IAO:0000142 PMID:19304569, PMID:5124677, PMID:6107814 ; - oboInOwl:hasDbXref UMLS:C0268514 ; oboInOwl:hasExactSynonym "UROCD", "urocanase deficiency" ; + skos:exactMatch UMLS:C0268514 ; biolink:category biolink:Disease . OMIM:276900 a owl:Class ; @@ -409922,10 +426378,6 @@ OMIM:276900 a owl:Class ; PMID:9382091, PMID:9738858, PMID:9888993 ; - oboInOwl:hasDbXref UMLS:C1568247, - UMLS:C1848638, - UMLS:C1848639, - UMLS:C1848640 ; oboInOwl:hasExactSynonym "USH1", "retinitis pigmentosa and congenital deafness", "us1", @@ -409934,6 +426386,10 @@ OMIM:276900 a owl:Class ; "usher syndrome, iia i, french variety, formerly", "usher syndrome, iia ia, formerly" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C1568247, + UMLS:C1848638, + UMLS:C1848639, + UMLS:C1848640 ; biolink:category biolink:Disease . OMIM:276902 a owl:Class ; @@ -409953,11 +426409,11 @@ OMIM:276902 a owl:Class ; PMID:8975700, PMID:9382091, PMID:9719374 ; - oboInOwl:hasDbXref UMLS:C1568248 ; oboInOwl:hasExactSynonym "USH3A", "usher syndrome, iia 3", "usher syndrome, iia 3a" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C1568248 ; biolink:category biolink:Disease . OMIM:276904 a owl:Class ; @@ -409975,13 +426431,13 @@ OMIM:276904 a owl:Class ; PMID:5937908, PMID:7789978, PMID:8128966 ; - oboInOwl:hasDbXref UMLS:C1848604, - ORPHA:231169, - ORPHA:886 ; oboInOwl:hasExactSynonym "USH1C", "usher syndrome, iia 1c", "usher syndrome, iia i, acadian variety" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C1848604, + ORPHA:231169, + ORPHA:886 ; biolink:category biolink:Disease . OMIM:277170 a owl:Class ; @@ -410006,7 +426462,6 @@ OMIM:277170 a owl:Class ; PMID:8256802, PMID:8281288, PMID:9557892 ; - oboInOwl:hasDbXref UMLS:C2745997 ; oboInOwl:hasExactSynonym "OFD6", "ofds 6", "oral-facial-digital syndrome, iia 6", @@ -410015,6 +426470,7 @@ OMIM:277170 a owl:Class ; "varadi syndrome", "varadi-papp syndrome" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C2745997 ; biolink:category biolink:Disease . OMIM:277300 a owl:Class ; @@ -410055,7 +426511,6 @@ OMIM:277300 a owl:Class ; PMID:8209895, PMID:8723567, PMID:8834041 ; - oboInOwl:hasDbXref UMLS:C0265343 ; oboInOwl:hasExactSynonym "SCDO1", "costovertebral dysplasia", "jarcho-levin syndrome", @@ -410064,6 +426519,7 @@ OMIM:277300 a owl:Class ; "spondylothoracic dysplasia", "vertebral anomalies" ; rdfs:subClassOf OMIMPS:277300 ; + skos:exactMatch UMLS:C0265343 ; biolink:category biolink:Disease . OMIM:277380 a owl:Class ; @@ -410075,7 +426531,6 @@ OMIM:277380 a owl:Class ; PMID:3725502, PMID:3766542, PMID:4001945 ; - oboInOwl:hasDbXref UMLS:C1848578 ; oboInOwl:hasExactSynonym "MAHCF", "cobalamin f disease", "cobalamin, defect 1n lysosomal release of", @@ -410085,6 +426540,7 @@ OMIM:277380 a owl:Class ; "vitamin b12 lysosomal release defect", "vitamin b12 storage disease" ; rdfs:subClassOf OMIMPS:277400 ; + skos:exactMatch UMLS:C1848578 ; biolink:category biolink:Disease . OMIM:277450 a owl:Class ; @@ -410104,7 +426560,6 @@ OMIM:277450 a owl:Class ; PMID:9382132, PMID:9738872, PMID:9845520 ; - oboInOwl:hasDbXref UMLS:C1848534 ; oboInOwl:hasExactSynonym "VKCFD1", "factors ii, vii, ix, and x, combined deficiency of", "familial multiple coagulation factor deficiency 3", @@ -410115,6 +426570,7 @@ OMIM:277450 a owl:Class ; "vitamin k-dependent coagulation defect", "vkcfd" ; rdfs:subClassOf OMIMPS:277450 ; + skos:exactMatch UMLS:C1848534 ; biolink:category biolink:Disease . OMIM:277460 a owl:Class ; @@ -410138,12 +426594,12 @@ OMIM:277460 a owl:Class ; PMID:8252047, PMID:8602747, PMID:9931538 ; - oboInOwl:hasDbXref UMLS:C1848533 ; oboInOwl:hasExactSynonym "AVED", "ataxia with vitamin e deficiency", "ataxia, friedreich-like, with selective vitamin e deficiency", "friedreich-like ataxia", "vitamin e deficiency, familial isolated" ; + skos:exactMatch UMLS:C1848533 ; biolink:category biolink:Disease . OMIM:277580 a owl:Class ; @@ -410174,7 +426630,6 @@ OMIM:277580 a owl:Class ; PMID:8630502, PMID:8634719, PMID:9279758 ; - oboInOwl:hasDbXref UMLS:C1848519 ; oboInOwl:hasExactSynonym "WS4A", "shah-waardenburg syndrome", "waardenburg syndrome with hirschsprung disease, iia 4a", @@ -410182,6 +426637,7 @@ OMIM:277580 a owl:Class ; "waardenburg-shah syndrome", "ws4" ; rdfs:subClassOf OMIMPS:193500 ; + skos:exactMatch UMLS:C1848519 ; biolink:category biolink:Disease . OMIM:277600 a owl:Class ; @@ -410200,13 +426656,13 @@ OMIM:277600 a owl:Class ; PMID:5928829, PMID:7451233, PMID:9075633 ; - oboInOwl:hasDbXref UMLS:C4552002 ; oboInOwl:hasExactSynonym "WMS1", "mesodermal dysmorphodystrophy, congenital", "spherophakia-brachymorphia syndrome", "weill-marchesani syndrome 1", "weill-marchesani syndrome, autosomal recessive" ; rdfs:subClassOf OMIMPS:277600 ; + skos:exactMatch UMLS:C4552002 ; biolink:category biolink:Disease . OMIM:277700 a owl:Class ; @@ -410273,9 +426729,9 @@ OMIM:277700 a owl:Class ; PMID:9402954, PMID:9450180, PMID:9771700 ; - oboInOwl:hasDbXref UMLS:C0043119 ; oboInOwl:hasExactSynonym "WRN", "werner syndrome" ; + skos:exactMatch UMLS:C0043119 ; biolink:category biolink:Disease . OMIM:277900 a owl:Class ; @@ -410399,12 +426855,12 @@ OMIM:277900 a owl:Class ; PMID:9671269, PMID:9794697, PMID:9949209 ; - oboInOwl:hasDbXref UMLS:C0019202, - ORPHA:905 ; oboInOwl:hasExactSynonym "WND", "hepatolenticular degeneration", "wd", "wilson disease" ; + skos:exactMatch UMLS:C0019202, + ORPHA:905 ; biolink:category biolink:Disease . OMIM:277950 a owl:Class ; @@ -410419,10 +426875,10 @@ OMIM:277950 a owl:Class ; PMID:4206841, PMID:4238825, PMID:4246484 ; - oboInOwl:hasDbXref UMLS:C0432289, - ORPHA:371428 ; oboInOwl:hasExactSynonym "WNCHRS", "winchester syndrome" ; + skos:exactMatch UMLS:C0432289, + ORPHA:371428 ; biolink:category biolink:Disease . OMIM:278250 a owl:Class ; @@ -410441,9 +426897,9 @@ OMIM:278250 a owl:Class ; PMID:6851222, PMID:8500259, PMID:9916839 ; - oboInOwl:hasDbXref UMLS:C0406587 ; oboInOwl:hasExactSynonym "WSS", "wrinkly skin syndrome" ; + skos:exactMatch UMLS:C0406587 ; biolink:category biolink:Disease . OMIM:278300 a owl:Class ; @@ -410465,13 +426921,13 @@ OMIM:278300 a owl:Class ; PMID:9153281, PMID:927625, PMID:9767921 ; - oboInOwl:hasDbXref UMLS:C0268118 ; oboInOwl:hasExactSynonym "XAN1", "xanthine dehydrogenase deficiency", "xanthine oxidase deficiency", "xanthinuria, iia 1", "xdh deficiency" ; rdfs:subClassOf OMIMPS:278300 ; + skos:exactMatch UMLS:C0268118 ; biolink:category biolink:Disease . OMIM:278700 a owl:Class ; @@ -410520,11 +426976,11 @@ OMIM:278700 a owl:Class ; PMID:8797827, PMID:934300, PMID:9671271 ; - oboInOwl:hasDbXref UMLS:C0268135 ; oboInOwl:hasExactSynonym "XPA", "xeroderma pigmentosum 1", "xeroderma pigmentosum, complementation group a", "xp, group a" ; + skos:exactMatch UMLS:C0268135 ; biolink:category biolink:Disease . OMIM:278730 a owl:Class ; @@ -410541,13 +426997,13 @@ OMIM:278730 a owl:Class ; PMID:3770739, PMID:7849702, PMID:9101292 ; - oboInOwl:hasDbXref UMLS:C0268138 ; oboInOwl:hasExactSynonym "XPD", "xeroderma pigmentosum 4", "xeroderma pigmentosum, complementation group d", "xp, group d", "xp, group h, formerly", "xp4 xeroderma pigmentosum viii, formerly" ; + skos:exactMatch UMLS:C0268138 ; biolink:category biolink:Disease . OMIM:278740 a owl:Class ; @@ -410559,11 +427015,11 @@ OMIM:278740 a owl:Class ; PMID:8171034, PMID:8407967, PMID:8798680 ; - oboInOwl:hasDbXref UMLS:C1848411 ; oboInOwl:hasExactSynonym "xeroderma pigmentosum 5", "xeroderma pigmentosum, complementation group e", "xp, group e", "xpe" ; + skos:exactMatch UMLS:C1848411 ; biolink:category biolink:Disease . OMIM:278750 a owl:Class ; @@ -410578,11 +427034,11 @@ OMIM:278750 a owl:Class ; PMID:5013606, PMID:7264357, PMID:8751969 ; - oboInOwl:hasDbXref UMLS:C1848410 ; oboInOwl:hasExactSynonym "XPV", "photosensitivity with defective DNA synthesis", "xeroderma pigmentosum with normal DNA repair rates", "xeroderma pigmentosum, variant iia" ; + skos:exactMatch UMLS:C1848410 ; biolink:category biolink:Disease . OMIM:278760 a owl:Class ; @@ -410601,13 +427057,13 @@ OMIM:278760 a owl:Class ; PMID:8797827, PMID:9579555, PMID:9580660 ; - oboInOwl:hasDbXref UMLS:C0268140, - UMLS:C3806565 ; oboInOwl:hasExactSynonym "XPF", "xeroderma pigmentosum 6", "xeroderma pigmentosum, iia f/cockayne syndrome", "xeroderma pigmentosum, complementation group f", "xp, group f" ; + skos:exactMatch UMLS:C0268140, + UMLS:C3806565 ; biolink:category biolink:Disease . OMIM:278780 a owl:Class ; @@ -410622,17 +427078,17 @@ OMIM:278780 a owl:Class ; PMID:7734202, PMID:8317483, PMID:9096355 ; - oboInOwl:hasDbXref UMLS:C0268141, - UMLS:C1968561, - ORPHA:1466, - ORPHA:191, - ORPHA:220295, - ORPHA:910 ; oboInOwl:hasExactSynonym "XPG", "xeroderma pigmentosum 7", "xeroderma pigmentosum, iia g/cockayne syndrome", "xeroderma pigmentosum, complementation group g", "xp, group g" ; + skos:exactMatch UMLS:C0268141, + UMLS:C1968561, + ORPHA:1466, + ORPHA:191, + ORPHA:220295, + ORPHA:910 ; biolink:category biolink:Disease . OMIM:280000 a owl:Class ; @@ -410645,36 +427101,38 @@ OMIM:280000 a owl:Class ; PMID:7666399, PMID:8893234, PMID:9295069 ; - oboInOwl:hasDbXref UMLS:C1848392 ; oboInOwl:hasExactSynonym "CHIME", "chime syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome", "glycosylphosphatidylinositol biosynthesis defect 5", "zunich neuroectodermal syndrome" ; + skos:exactMatch UMLS:C1848392 ; biolink:category biolink:Disease . OMIM:300002 a owl:Class ; rdfs:label "ARSD" ; IAO:0000142 PMID:7720070, PMID:8845834 ; - oboInOwl:hasDbXref UMLS:C1412556 ; oboInOwl:hasExactSynonym "ARSD", "arylsulfatase d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:414 ; - skos:exactMatch HGNC_symbol:ARSD ; + skos:exactMatch UMLS:C1412556, + HGNC:717, + HGNC_symbol:ARSD ; biolink:category biolink:Gene . OMIM:300003 a owl:Class ; rdfs:label "ARSF" ; IAO:0000142 PMID:7720070, PMID:9192838 ; - oboInOwl:hasDbXref UMLS:C1412560 ; oboInOwl:hasExactSynonym "ARSF", "arylsulfatase f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:416 ; - skos:exactMatch HGNC_symbol:ARSF ; + skos:exactMatch UMLS:C1412560, + HGNC:721, + HGNC_symbol:ARSF ; biolink:category biolink:Gene . OMIM:300004 a owl:Class ; @@ -410684,11 +427142,11 @@ OMIM:300004 a owl:Class ; PMID:1605226, PMID:18462864, PMID:19439424 ; - oboInOwl:hasDbXref UMLS:C0796124, - ORPHA:2508 ; oboInOwl:hasExactSynonym "acc with abnormal genitalia", "corpus callosum, agenesis of, with abnormal genitalia", "proud syndrome" ; + skos:exactMatch UMLS:C0796124, + ORPHA:2508 ; biolink:category biolink:Disease . OMIM:300005 a owl:Class ; @@ -410849,12 +427307,13 @@ OMIM:300005 a owl:Class ; PMID:9620804 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300496 ; - oboInOwl:hasDbXref UMLS:C1417098 ; oboInOwl:hasExactSynonym "MECP2", "methyl-cpg-binding protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4204 ; - skos:exactMatch HGNC_symbol:MECP2 ; + skos:exactMatch UMLS:C1417098, + HGNC:6990, + HGNC_symbol:MECP2 ; biolink:category biolink:Gene . OMIM:300006 a owl:Class ; @@ -410864,14 +427323,15 @@ OMIM:300006 a owl:Class ; PMID:7713520, PMID:8248209, PMID:8597638 ; - oboInOwl:hasDbXref UMLS:C1413351 ; oboInOwl:hasExactSynonym "CETN2", "caltractin", "centrin 2", "centrin, ef-hand protein, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1069 ; - skos:exactMatch HGNC_symbol:CETN2 ; + skos:exactMatch UMLS:C1413351, + HGNC:1867, + HGNC_symbol:CETN2 ; biolink:category biolink:Gene . OMIM:300007 a owl:Class ; @@ -410889,12 +427349,13 @@ OMIM:300007 a owl:Class ; PMID:8666384, PMID:8756628, PMID:9002663 ; - oboInOwl:hasDbXref UMLS:C1416413 ; oboInOwl:hasExactSynonym "IL9R", "interleukin 9 receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3581 ; - skos:exactMatch HGNC_symbol:IL9R ; + skos:exactMatch UMLS:C1416413, + HGNC:6030, + HGNC_symbol:IL9R ; biolink:category biolink:Gene . OMIM:300008 a owl:Class ; @@ -410930,14 +427391,15 @@ OMIM:300008 a owl:Class ; PMID:9931332 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:308990 ; - oboInOwl:hasDbXref UMLS:C1413454 ; oboInOwl:hasExactSynonym "CLCN5", "chloride channel 5", "chloride channel, voltage-gated, k2", "clc5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1184 ; - skos:exactMatch HGNC_symbol:CLCN5 ; + skos:exactMatch UMLS:C1413454, + HGNC:2023, + HGNC_symbol:CLCN5 ; biolink:category biolink:Gene . OMIM:300009 a owl:Class ; @@ -410958,13 +427420,13 @@ OMIM:300009 a owl:Class ; PMID:8111383, PMID:8559248, PMID:9452994 ; - oboInOwl:hasDbXref UMLS:C1848336 ; oboInOwl:hasExactSynonym "DENT1", "dent disease 1", "nephrolithiasis 2", "nephrolithiasis, hypercalciuric, X-linked", "urolithiasis, hypercalciuric, X-linked" ; rdfs:subClassOf OMIMPS:300009 ; + skos:exactMatch UMLS:C1848336 ; biolink:category biolink:Disease . OMIM:300011 a owl:Class ; @@ -411021,17 +427483,18 @@ OMIM:300011 a owl:Class ; PMID:9894833 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:300489 ; - oboInOwl:hasDbXref UMLS:C0022716, - UMLS:C0268353, - UMLS:C1412688, - UMLS:C1845359, - UMLS:C4016446, - UMLS:C4016447 ; oboInOwl:hasExactSynonym "ATP7A", "atpase, cu(2+)-transporting, alpha polypeptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:538 ; - skos:exactMatch HGNC_symbol:ATP7A ; + skos:exactMatch UMLS:C0022716, + UMLS:C0268353, + UMLS:C1412688, + UMLS:C1845359, + UMLS:C4016446, + UMLS:C4016447, + HGNC:869, + HGNC_symbol:ATP7A ; biolink:category biolink:Gene . OMIM:300012 a owl:Class ; @@ -411039,14 +427502,15 @@ OMIM:300012 a owl:Class ; IAO:0000142 PMID:11359880, PMID:1408766, PMID:15640247 ; - oboInOwl:hasDbXref UMLS:C1335840 ; oboInOwl:hasExactSynonym "SMARCA1", "snf2-like 1", "sucrose nonfermenting, yeast, homolog-like 1", "swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6594 ; - skos:exactMatch HGNC_symbol:SMARCA1 ; + skos:exactMatch UMLS:C1335840, + HGNC:11097, + HGNC_symbol:SMARCA1 ; biolink:category biolink:Gene . OMIM:300013 a owl:Class ; @@ -411074,9 +427538,6 @@ OMIM:300013 a owl:Class ; PMID:8343956 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300855 ; - oboInOwl:hasDbXref UMLS:C0796016, - UMLS:C1538918, - UMLS:C3275447 ; oboInOwl:hasExactSynonym "NAA10", "ard1 n-acetyltransferase, s. cerevisiae, homolog of, a", "arrest-defective protein 1", @@ -411084,7 +427545,11 @@ OMIM:300013 a owl:Class ; "te2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8260 ; - skos:exactMatch HGNC_symbol:NAA10 ; + skos:exactMatch UMLS:C0796016, + UMLS:C1538918, + UMLS:C3275447, + HGNC:18704, + HGNC_symbol:NAA10 ; biolink:category biolink:Gene . OMIM:300014 a owl:Class ; @@ -411098,13 +427563,14 @@ OMIM:300014 a owl:Class ; PMID:8765088 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:302500 ; - oboInOwl:hasDbXref UMLS:C1412642 ; oboInOwl:hasExactSynonym "ATP2B3", "atpase, ca(2+)-transporting, plasma membrane, 3", "plasma membrane ca(2+)-atpase, iia 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:492 ; - skos:exactMatch HGNC_symbol:ATP2B3 ; + skos:exactMatch UMLS:C1412642, + HGNC:816, + HGNC_symbol:ATP2B3 ; biolink:category biolink:Gene . OMIM:300016 a owl:Class ; @@ -411115,14 +427581,15 @@ OMIM:300016 a owl:Class ; PMID:8039421, PMID:8302824, PMID:8575766 ; - oboInOwl:hasDbXref UMLS:C1416970 ; oboInOwl:hasExactSynonym "MAGEA1", "melanoma antigen, family a, 1", "melanoma-associated antigen 1", "melanoma-associated antigen mz2-e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4100 ; - skos:exactMatch HGNC_symbol:MAGEA1 ; + skos:exactMatch UMLS:C1416970, + HGNC:6796, + HGNC_symbol:MAGEA1 ; biolink:category biolink:Gene . OMIM:300018 a owl:Class ; @@ -411132,12 +427599,12 @@ OMIM:300018 a owl:Class ; PMID:7951319, PMID:8496317, PMID:9486644 ; - oboInOwl:hasDbXref UMLS:C1848296 ; oboInOwl:hasExactSynonym "46,xy sex reversal 2", "46,xy sex reversal, dax1-related", "SRXY2", "dosage-sensitive sex reversal" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C1848296 ; biolink:category biolink:Disease . OMIM:300019 a owl:Class ; @@ -411156,15 +427623,16 @@ OMIM:300019 a owl:Class ; PMID:8833156 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:309541 ; - oboInOwl:hasDbXref UMLS:C0796208, - UMLS:C1415493 ; oboInOwl:hasExactSynonym "HCFC1", "hcf1", "host cell factor c1", "vp16 accessory protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3054 ; - skos:exactMatch HGNC_symbol:HCFC1 ; + skos:exactMatch UMLS:C0796208, + UMLS:C1415493, + HGNC:4839, + HGNC_symbol:HCFC1 ; biolink:category biolink:Gene . OMIM:300021 a owl:Class ; @@ -411176,12 +427644,13 @@ OMIM:300025 a owl:Class ; IAO:0000142 PMID:13679919, PMID:7655457, PMID:7902125 ; - oboInOwl:hasDbXref UMLS:C1413302 ; oboInOwl:hasExactSynonym "CDX4", "caudal-type homeobox transcription factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1046 ; - skos:exactMatch HGNC_symbol:CDX4 ; + skos:exactMatch UMLS:C1413302, + HGNC:1808, + HGNC_symbol:CDX4 ; biolink:category biolink:Gene . OMIM:300029 a owl:Class ; @@ -411221,13 +427690,13 @@ OMIM:300029 a owl:Class ; PMID:8817343, PMID:9350809, PMID:9399904 ; - oboInOwl:hasDbXref UMLS:C1845667 ; oboInOwl:hasExactSynonym "RP3", "choroidoretinal degeneration with retinal reflex 1n heterozygous women", "cone-rod degeneration, X-linked", "retinitis pigmentosa 15", "retinitis pigmentosa 3" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1845667 ; biolink:category biolink:Disease . OMIM:300032 a owl:Class ; @@ -411292,7 +427761,6 @@ OMIM:300032 a owl:Class ; PMID:9598720 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:309580 ; - oboInOwl:hasDbXref UMLS:C1412697 ; oboInOwl:hasExactSynonym "ATRX", "X-linked nuclear protein gene", "atr-x gene", @@ -411300,7 +427768,9 @@ OMIM:300032 a owl:Class ; "helicase 2, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:546 ; - skos:exactMatch HGNC_symbol:ATRX ; + skos:exactMatch UMLS:C1412697, + HGNC:886, + HGNC_symbol:ATRX ; biolink:category biolink:Gene . OMIM:300033 a owl:Class ; @@ -411316,7 +427786,6 @@ OMIM:300033 a owl:Class ; PMID:8378328, PMID:9010221, PMID:9341872 ; - oboInOwl:hasDbXref UMLS:C1334518 ; oboInOwl:hasExactSynonym "FOXO4", "all1-fused gene from 10 chromosome", "forkhead box o4", @@ -411324,7 +427793,9 @@ OMIM:300033 a owl:Class ; "myeloid/lymphoid or mixed lineage leukemia, translocated to, 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4303 ; - skos:exactMatch HGNC_symbol:FOXO4 ; + skos:exactMatch UMLS:C1334518, + HGNC:7139, + HGNC_symbol:FOXO4 ; biolink:category biolink:Gene . OMIM:300034 a owl:Class ; @@ -411348,12 +427819,13 @@ OMIM:300034 a owl:Class ; PMID:7790004, PMID:7945336, PMID:8552595 ; - oboInOwl:hasDbXref UMLS:C1332036 ; oboInOwl:hasExactSynonym "AGTR2", "angiotensin 2 receptor, iia 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:186 ; - skos:exactMatch HGNC_symbol:AGTR2 ; + skos:exactMatch UMLS:C1332036, + HGNC:338, + HGNC_symbol:AGTR2 ; biolink:category biolink:Gene . OMIM:300035 a owl:Class ; @@ -411383,7 +427855,6 @@ OMIM:300035 a owl:Class ; PMID:8798744 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:304110 ; - oboInOwl:hasDbXref UMLS:C1414305 ; oboInOwl:hasExactSynonym "EFNB1", "efl3", "elk ligand", @@ -411392,7 +427863,9 @@ OMIM:300035 a owl:Class ; "ligand of eph-related kinase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1947 ; - skos:exactMatch HGNC_symbol:EFNB1 ; + skos:exactMatch UMLS:C1414305, + HGNC:3226, + HGNC_symbol:EFNB1 ; biolink:category biolink:Gene . OMIM:300036 a owl:Class ; @@ -411422,14 +427895,15 @@ OMIM:300036 a owl:Class ; PMID:9882430 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300352 ; - oboInOwl:hasDbXref UMLS:C1420219, - UMLS:C1845862 ; oboInOwl:hasExactSynonym "SLC6A8", "creatine transporter", "solute carrier family 6 (neurotransmitter transporter, creatine), member 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6535 ; - skos:exactMatch HGNC_symbol:SLC6A8 ; + skos:exactMatch UMLS:C1420219, + UMLS:C1845862, + HGNC:11055, + HGNC_symbol:SLC6A8 ; biolink:category biolink:Gene . OMIM:300039 a owl:Class ; @@ -411448,13 +427922,14 @@ OMIM:300039 a owl:Class ; PMID:9298820 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:304400 ; - oboInOwl:hasDbXref UMLS:C1418764 ; oboInOwl:hasExactSynonym "POU3F4", "brain-4", "pou domain, class 3, transcription factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5456 ; - skos:exactMatch HGNC_symbol:POU3F4 ; + skos:exactMatch UMLS:C1418764, + HGNC:9217, + HGNC_symbol:POU3F4 ; biolink:category biolink:Gene . OMIM:300040 a owl:Class ; @@ -411482,11 +427957,6 @@ OMIM:300040 a owl:Class ; PMID:7757076 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:301044 ; - oboInOwl:hasDbXref UMLS:C1802395, - UMLS:C1822777, - UMLS:C5393312, - UMLS:C5394560, - UMLS:C5394561 ; oboInOwl:hasExactSynonym "SMC1A", "dxs423e", "kiaa0178", @@ -411496,28 +427966,35 @@ OMIM:300040 a owl:Class ; "structural maintenance of chromosomes 1a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8243 ; - skos:exactMatch HGNC_symbol:SMC1A ; + skos:exactMatch UMLS:C1802395, + UMLS:C1822777, + UMLS:C5393312, + UMLS:C5394560, + UMLS:C5394561, + HGNC:11111, + HGNC_symbol:SMC1A ; biolink:category biolink:Gene . OMIM:300046 a owl:Class ; - rdfs:label "mental retardation, X-linked 23" ; + rdfs:label "intellectual developmental disorder, X-linked 23" ; IAO:0000142 PMID:12949969, PMID:6711606, PMID:8826461, PMID:8852668 ; RO:0002525 CHR:9606chrXq23-q24 ; - oboInOwl:hasDbXref UMLS:C0796229 ; - oboInOwl:hasExactSynonym "MRX23", + oboInOwl:hasExactSynonym "XLID23", + "intellectual developmental disorder, X-linked 23", "mental retardation, X-linked 23" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796229 ; biolink:category biolink:Disease . OMIM:300054 a owl:Class ; rdfs:label "body length, mouse, human homolog" ; IAO:0000142 PMID:8340109, PMID:8833234 ; - oboInOwl:hasDbXref UMLS:C1848212 ; - oboInOwl:hasExactSynonym "body length, mouse, human homolog" . + oboInOwl:hasExactSynonym "body length, mouse, human homolog" ; + skos:exactMatch UMLS:C1848212 . OMIM:300055 a owl:Class ; rdfs:label "intellectual developmental disorder, x-linked, syndromic 13" ; @@ -411534,10 +428011,6 @@ OMIM:300055 a owl:Class ; PMID:17351020, PMID:8651288, PMID:9377804 ; - oboInOwl:hasDbXref UMLS:C0796222, - UMLS:C1848211, - UMLS:C1968550, - UMLS:C1968551 ; oboInOwl:hasExactSynonym "MRXS13", "intellectual developmental disorder, x-linked, syndromic 13", "mental retardation with psychosis, pyramidal signs, and macroorchidism", @@ -411546,6 +428019,10 @@ OMIM:300055 a owl:Class ; "mental retardation, x-linked, syndromic 13", "mental retardation, x-linked, with spasticity" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0796222, + UMLS:C1848211, + UMLS:C1968550, + UMLS:C1968551 ; biolink:category biolink:Disease . OMIM:300058 a owl:Class ; @@ -411553,28 +428030,14 @@ OMIM:300058 a owl:Class ; owl:deprecated true . OMIM:300062 a owl:Class ; - rdfs:label "mental retardation, X-linked 14" ; + rdfs:label "intellectual developmental disorder, X-linked 14" ; IAO:0000142 PMID:8026106 ; RO:0002525 CHR:9606chrXp11.3-q13.3 ; - oboInOwl:hasDbXref UMLS:C0796220 ; - oboInOwl:hasExactSynonym "MRX14", + oboInOwl:hasExactSynonym "XLID14", + "intellectual developmental disorder, X-linked 14", "mental retardation, X-linked 14" ; rdfs:subClassOf OMIMPS:309530 ; - biolink:category biolink:Disease . - -OMIM:300066 a owl:Class ; - rdfs:label "deafness, X-linked 4" ; - IAO:0000142 PMID:18005182, - PMID:21549336, - PMID:21549342, - PMID:22911656, - PMID:8872482 ; - oboInOwl:hasDbXref UMLS:C1848204 ; - oboInOwl:hasExactSynonym "DFNX4", - "deafness, X-linked 4", - "deafness, X-linked 6, progressive", - "deafness, nonsyndromic sensorineural progressive 6" ; - rdfs:subClassOf OMIMPS:304500 ; + skos:exactMatch UMLS:C0796220 ; biolink:category biolink:Disease . OMIM:300068 a owl:Class ; @@ -411649,7 +428112,6 @@ OMIM:300068 a owl:Class ; PMID:7728763, PMID:8292051, PMID:9039995 ; - oboInOwl:hasDbXref UMLS:C0039585 ; oboInOwl:hasExactSynonym "AIS", "androgen insensitivity syndrome", "androgen receptor deficiency", @@ -411657,6 +428119,7 @@ OMIM:300068 a owl:Class ; "dhtr deficiency", "dihydrotestosterone receptor deficiency", "testicular feminization syndrome" ; + skos:exactMatch UMLS:C0039585 ; biolink:category biolink:Disease . OMIM:300069 a owl:Class ; @@ -411667,14 +428130,15 @@ OMIM:300081 a owl:Class ; rdfs:label "DNASE1L1" ; IAO:0000142 PMID:8541839, PMID:8654957 ; - oboInOwl:hasDbXref UMLS:C1414108 ; oboInOwl:hasExactSynonym "DNASE1L1", "deoxyribonuclease i-like 1", "dnase i, lysosomal-like", "dnase i-like, muscle-specific" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1774 ; - skos:exactMatch HGNC_symbol:DNASE1L1 ; + skos:exactMatch UMLS:C1414108, + HGNC:2957, + HGNC_symbol:DNASE1L1 ; biolink:category biolink:Gene . OMIM:300082 a owl:Class ; @@ -411690,10 +428154,10 @@ OMIM:300082 a owl:Class ; PMID:9585588, PMID:9733570 ; RO:0002525 CHR:9606chrXq ; - oboInOwl:hasDbXref UMLS:C1848140 ; oboInOwl:hasExactSynonym "CGF1", "cognitive function 1, social", "social cognition" ; + skos:exactMatch UMLS:C1848140 ; biolink:category biolink:Disease . OMIM:300083 a owl:Class ; @@ -411701,13 +428165,14 @@ OMIM:300083 a owl:Class ; IAO:0000142 PMID:12082174, PMID:7633447, PMID:9154127 ; - oboInOwl:hasDbXref UMLS:C1418934 ; oboInOwl:hasExactSynonym "PRKX", "protein kinase pkx1", "protein kinase, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5613 ; - skos:exactMatch HGNC_symbol:PRKX ; + skos:exactMatch UMLS:C1418934, + HGNC:9441, + HGNC_symbol:PRKX ; biolink:category biolink:Gene . OMIM:300085 a owl:Class ; @@ -411715,11 +428180,11 @@ OMIM:300085 a owl:Class ; IAO:0000142 PMID:9199568 ; RO:0002525 CHR:9606chrXq27 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1848139 ; oboInOwl:hasExactSynonym "CORDX2", "cone dystrophy 2, X-linked", "cone-rod dystrophy, x-linked, 2" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1848139 ; biolink:category biolink:Disease . OMIM:300087 a owl:Class ; @@ -411736,9 +428201,9 @@ OMIM:300087 a owl:Class ; PMID:9354806, PMID:9445409, PMID:9445416 ; - oboInOwl:hasDbXref UMLS:C1848138 ; oboInOwl:hasExactSynonym "SXI1", "x inactivation, familial skewed, 1" ; + skos:exactMatch UMLS:C1848138 ; biolink:category biolink:Disease . OMIM:300095 a owl:Class ; @@ -411761,7 +428226,6 @@ OMIM:300095 a owl:Class ; PMID:9545634 ; RO:0002525 CHR:9606chrXq13.2 ; RO:0003303 OMIM:300523 ; - oboInOwl:hasDbXref UMLS:C1420103 ; oboInOwl:hasExactSynonym "SLC16A2", "X-linked pest-containing transporter", "dxs128e", @@ -411769,7 +428233,9 @@ OMIM:300095 a owl:Class ; "solute carrier family 16 (monocarboxylic acid transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6567 ; - skos:exactMatch HGNC_symbol:SLC16A2 ; + skos:exactMatch UMLS:C1420103, + HGNC:10923, + HGNC_symbol:SLC16A2 ; biolink:category biolink:Gene . OMIM:300096 a owl:Class ; @@ -411783,7 +428249,6 @@ OMIM:300096 a owl:Class ; PMID:8420826 ; RO:0002525 CHR:9606chrXp11.4 ; RO:0003303 OMIM:300210 ; - oboInOwl:hasDbXref UMLS:C1540087 ; oboInOwl:hasExactSynonym "TSPAN7", "membrane component, 10 chromosome, surface marker 1", "tetraspanin 7", @@ -411791,7 +428256,9 @@ OMIM:300096 a owl:Class ; "transmembrane protein a15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7102 ; - skos:exactMatch HGNC_symbol:TSPAN7 ; + skos:exactMatch UMLS:C1540087, + HGNC:11854, + HGNC_symbol:TSPAN7 ; biolink:category biolink:Gene . OMIM:300098 a owl:Class ; @@ -411800,13 +428267,14 @@ OMIM:300098 a owl:Class ; PMID:7951319, PMID:8535061, PMID:9441743 ; - oboInOwl:hasDbXref UMLS:C1416982 ; oboInOwl:hasExactSynonym "MAGEB2", "dss/ahc critical interval gene, from mage superfamily, 6", "melanoma antigen, family b, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4113 ; - skos:exactMatch HGNC_symbol:MAGEB2 ; + skos:exactMatch UMLS:C1416982, + HGNC:6809, + HGNC_symbol:MAGEB2 ; biolink:category biolink:Gene . OMIM:300099 a owl:Class ; @@ -411955,8 +428423,6 @@ OMIM:300100 a owl:Class ; PMID:9702690, PMID:973804, PMID:9894883 ; - oboInOwl:hasDbXref UMLS:C0162309, - UMLS:C1527231 ; oboInOwl:hasExactSynonym "ALD", "addison disease and cerebral sclerosis", "adrenoleukodystrophy", @@ -411964,19 +428430,22 @@ OMIM:300100 a owl:Class ; "bronze schilder disease", "melanodermic leukodystrophy", "siemerling-creutzfeldt disease" ; + skos:exactMatch UMLS:C0162309, + UMLS:C1527231 ; biolink:category biolink:Disease . OMIM:300101 a owl:Class ; rdfs:label "BMX" ; IAO:0000142 PMID:11416142, PMID:7970727 ; - oboInOwl:hasDbXref UMLS:C1332433 ; oboInOwl:hasExactSynonym "BMX", "bone marrow kinase, X-linked", "protein tyrosine kinase bmx" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:660 ; - skos:exactMatch HGNC_symbol:BMX ; + skos:exactMatch UMLS:C1332433, + HGNC:1079, + HGNC_symbol:BMX ; biolink:category biolink:Gene . OMIM:300102 a owl:Class ; @@ -411985,8 +428454,6 @@ OMIM:300102 a owl:Class ; PMID:17603008, PMID:26741492, PMID:7806223 ; - oboInOwl:hasDbXref UMLS:C1538687, - UMLS:C2986382 ; oboInOwl:hasExactSynonym "PNPLA4", "dxs1283e", "gs2 gene", @@ -411995,7 +428462,10 @@ OMIM:300102 a owl:Class ; "phospholipase a2, calcium-independent, eta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8228 ; - skos:exactMatch HGNC_symbol:PNPLA4 ; + skos:exactMatch UMLS:C1538687, + UMLS:C2986382, + HGNC:24887, + HGNC_symbol:PNPLA4 ; biolink:category biolink:Gene . OMIM:300103 a owl:Class ; @@ -412003,13 +428473,14 @@ OMIM:300103 a owl:Class ; IAO:0000142 PMID:16684770, PMID:7795590, PMID:8661129 ; - oboInOwl:hasDbXref UMLS:C1822720 ; oboInOwl:hasExactSynonym "SHROOM2", "apical protein of xenopus-like", "shroom family member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:357 ; - skos:exactMatch HGNC_symbol:SHROOM2 ; + skos:exactMatch UMLS:C1822720, + HGNC:630, + HGNC_symbol:SHROOM2 ; biolink:category biolink:Gene . OMIM:300104 a owl:Class ; @@ -412034,7 +428505,6 @@ OMIM:300104 a owl:Class ; PMID:9668174 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:300849 ; - oboInOwl:hasDbXref UMLS:C1415038 ; oboInOwl:hasExactSynonym "GDI1", "gdp dissociation inhibitor 1", "oligophrenin 2", @@ -412043,7 +428513,9 @@ OMIM:300104 a owl:Class ; "rhogdi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2664 ; - skos:exactMatch HGNC_symbol:GDI1 ; + skos:exactMatch UMLS:C1415038, + HGNC:4226, + HGNC_symbol:GDI1 ; biolink:category biolink:Gene . OMIM:300105 a owl:Class ; @@ -412061,12 +428533,13 @@ OMIM:300105 a owl:Class ; PMID:9545633 ; RO:0002525 CHR:9606chrXp22.11 ; RO:0003303 OMIM:309583 ; - oboInOwl:hasDbXref UMLS:C1420262 ; oboInOwl:hasExactSynonym "SMS", "spermine synthase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6611 ; - skos:exactMatch HGNC_symbol:SMS ; + skos:exactMatch UMLS:C1420262, + HGNC:11123, + HGNC_symbol:SMS ; biolink:category biolink:Gene . OMIM:300113 a owl:Class ; @@ -412074,9 +428547,9 @@ OMIM:300113 a owl:Class ; IAO:0000142 PMID:2984575, PMID:3872416, PMID:8535073 ; - oboInOwl:hasDbXref UMLS:C1848088 ; oboInOwl:hasExactSynonym "X-linked B cell surface antigen, mouse, homolog-like 1", - "XLRL" . + "XLRL" ; + skos:exactMatch UMLS:C1848088 . OMIM:300114 a owl:Class ; rdfs:label "raynaud-claes syndrome" ; @@ -412087,13 +428560,13 @@ OMIM:300114 a owl:Class ; PMID:27550844, PMID:8826458, PMID:9415477 ; - oboInOwl:hasDbXref UMLS:C0796221, - UMLS:C3887959 ; oboInOwl:hasExactSynonym "MRXSRC", "mental retardation, X-linked 15", "mental retardation, X-linked 49", "raynaud-claes syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0796221, + UMLS:C3887959 ; biolink:category biolink:Disease . OMIM:300115 a owl:Class ; @@ -412101,11 +428574,11 @@ OMIM:300115 a owl:Class ; IAO:0000142 PMID:28973667, PMID:8826466, PMID:9415477 ; - oboInOwl:hasDbXref UMLS:C1848087 ; oboInOwl:hasExactSynonym "XLID50", "intellectual developmental disorder, X-linked 50", "mental retardation, X-linked 50" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1848087 ; biolink:category biolink:Disease . OMIM:300116 a owl:Class ; @@ -412115,14 +428588,15 @@ OMIM:300116 a owl:Class ; PMID:8361760, PMID:8634440, PMID:9657733 ; - oboInOwl:hasDbXref UMLS:C1334535 ; oboInOwl:hasExactSynonym "MTCP1", "c6.1b", "mature t-cell proliferation 1", "p13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4515 ; - skos:exactMatch HGNC_symbol:MTCP1 ; + skos:exactMatch UMLS:C1334535, + HGNC:7423, + HGNC_symbol:MTCP1 ; biolink:category biolink:Gene . OMIM:300118 a owl:Class ; @@ -412131,13 +428605,14 @@ OMIM:300118 a owl:Class ; PMID:17627118, PMID:23251683, PMID:9417914 ; - oboInOwl:hasDbXref UMLS:C1412523 ; oboInOwl:hasExactSynonym "ARHGAP6", "gtpase-activating protein, rho, 6", "rho gtpase-activating protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:395 ; - skos:exactMatch HGNC_symbol:ARHGAP6 ; + skos:exactMatch UMLS:C1412523, + HGNC:676, + HGNC_symbol:ARHGAP6 ; biolink:category biolink:Gene . OMIM:300125 a owl:Class ; @@ -412146,11 +428621,11 @@ OMIM:300125 a owl:Class ; PMID:22294494, PMID:9467004 ; RO:0002525 CHR:9606chrXq ; - oboInOwl:hasDbXref UMLS:C1848066 ; oboInOwl:hasExactSynonym "mfts", "mgr2", "migraine with or without aura, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C1848066 ; biolink:category biolink:Disease . OMIM:300135 a owl:Class ; @@ -412164,7 +428639,6 @@ OMIM:300135 a owl:Class ; PMID:9621516 ; RO:0002525 CHR:9606chrXq13.3 ; RO:0003303 OMIM:301310 ; - oboInOwl:hasDbXref UMLS:C1412073 ; oboInOwl:hasExactSynonym "ABCB7", "abc transporter 7", "atp-binding cassette 7", @@ -412172,7 +428646,9 @@ OMIM:300135 a owl:Class ; "atp-binding cassette, subfamily b, member 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:22 ; - skos:exactMatch HGNC_symbol:ABCB7 ; + skos:exactMatch UMLS:C1412073, + HGNC:48, + HGNC_symbol:ABCB7 ; biolink:category biolink:Gene . OMIM:300136 a owl:Class ; @@ -412183,11 +428659,11 @@ OMIM:300136 a owl:Class ; PMID:9509279, PMID:9662410 ; RO:0002525 CHR:9606chrXp11 ; - oboInOwl:hasDbXref UMLS:C1848042 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus, x-linked, susceptibility to", "T1DX", "diabetes mellitus, insulin-dependent, x-linked, susceptibility to", "insulin-dependent diabetes mellitus, x-linked, susceptibility to" ; + skos:exactMatch UMLS:C1848042 ; biolink:category biolink:Disease . OMIM:300140 a owl:Class ; @@ -412212,12 +428688,13 @@ OMIM:300144 a owl:Class ; PMID:9674910 ; RO:0002525 CHR:9606chrXq24 ; RO:0003303 OMIM:168600 ; - oboInOwl:hasDbXref UMLS:C1415114 ; oboInOwl:hasExactSynonym "GLUD2", "glutamate dehydrogenase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2747 ; - skos:exactMatch HGNC_symbol:GLUD2 ; + skos:exactMatch UMLS:C1415114, + HGNC:4336, + HGNC_symbol:GLUD2 ; biolink:category biolink:Gene . OMIM:300147 a owl:Class ; @@ -412228,10 +428705,10 @@ OMIM:300147 a owl:Class ; PMID:15906096, PMID:9771711 ; RO:0002525 CHR:9606chrXq27-q28 ; - oboInOwl:hasDbXref UMLS:C1846279 ; oboInOwl:hasExactSynonym "HPCX1", "prostate cancer susceptibility, X-linked", "prostate cancer, hereditary, X-linked 1" ; + skos:exactMatch UMLS:C1846279 ; biolink:category biolink:Disease . OMIM:300149 a owl:Class ; @@ -412239,13 +428716,14 @@ OMIM:300149 a owl:Class ; IAO:0000142 PMID:8901575, PMID:9434189, PMID:9721210 ; - oboInOwl:hasDbXref UMLS:C1413429 ; oboInOwl:hasExactSynonym "CITED1", "cbp/p300-interacting transactivator with glu/asp-rich c-terminal domain, 1", "melanocyte-specific gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4435 ; - skos:exactMatch HGNC_symbol:CITED1 ; + skos:exactMatch UMLS:C1413429, + HGNC:1986, + HGNC_symbol:CITED1 ; biolink:category biolink:Gene . OMIM:300155 a owl:Class ; @@ -412253,10 +428731,10 @@ OMIM:300155 a owl:Class ; IAO:0000142 PMID:10690843, PMID:9792872 ; RO:0002525 CHR:9606chrXq26-q27 ; - oboInOwl:hasDbXref UMLS:C3887982 ; oboInOwl:hasExactSynonym "RP24", "retinitis pigmentosa 24" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3887982 ; biolink:category biolink:Disease . OMIM:300157 a owl:Class ; @@ -412274,24 +428752,25 @@ OMIM:300157 a owl:Class ; PMID:9598718 ; RO:0002525 CHR:9606chrXq23 ; RO:0003303 OMIM:300387 ; - oboInOwl:hasDbXref UMLS:C1414520 ; oboInOwl:hasExactSynonym "ACSL4", "acyl-coa synthetase 4", "acyl-coa synthetase long chain family, member 4", "fatty acid coa ligase, long chain 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2182 ; - skos:exactMatch HGNC_symbol:ACSL4 ; + skos:exactMatch UMLS:C1414520, + HGNC:3571, + HGNC_symbol:ACSL4 ; biolink:category biolink:Gene . OMIM:300158 a owl:Class ; rdfs:label "arthrogryposis, congenital, lower limb, X-linked" ; IAO:0000142 PMID:7200838, PMID:9714012 ; - oboInOwl:hasDbXref UMLS:C1846273 ; oboInOwl:hasExactSynonym "ACLLX", "arthrogryposis, congenital, lower limb, X-linked", "arthrogryposis, x-linked, iia v, formerly" ; + skos:exactMatch UMLS:C1846273 ; biolink:category biolink:Disease . OMIM:300159 a owl:Class ; @@ -412307,7 +428786,6 @@ OMIM:300159 a owl:Class ; PMID:6548414, PMID:8838802, PMID:9381176 ; - oboInOwl:hasDbXref UMLS:C1420787 ; oboInOwl:hasExactSynonym "TMSB4X", "prothymosin beta-4", "tb4x", @@ -412315,7 +428793,9 @@ OMIM:300159 a owl:Class ; "thymosin, beta-4, 10 chromosome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7114 ; - skos:exactMatch HGNC_symbol:TMSB4X ; + skos:exactMatch UMLS:C1420787, + HGNC:11881, + HGNC_symbol:TMSB4X ; biolink:category biolink:Gene . OMIM:300163 a owl:Class ; @@ -412347,13 +428827,6 @@ OMIM:300163 a owl:Class ; PMID:9714789 ; RO:0002525 CHR:9606chrXq26.3 ; RO:0003303 OMIM:300695 ; - oboInOwl:hasDbXref UMLS:C1414612, - UMLS:C1846010, - UMLS:C2678055, - UMLS:C2678061, - UMLS:C2749106, - UMLS:C4225599, - UMLS:C4225600 ; oboInOwl:hasExactSynonym "FHL1", "fhl1a", "fhl1b", @@ -412364,7 +428837,15 @@ OMIM:300163 a owl:Class ; "slimmer" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2273 ; - skos:exactMatch HGNC_symbol:FHL1 ; + skos:exactMatch UMLS:C1414612, + UMLS:C1846010, + UMLS:C2678055, + UMLS:C2678061, + UMLS:C2749106, + UMLS:C4225599, + UMLS:C4225600, + HGNC:3702, + HGNC_symbol:FHL1 ; biolink:category biolink:Gene . OMIM:300171 a owl:Class ; @@ -412375,12 +428856,13 @@ OMIM:300171 a owl:Class ; PMID:8640223, PMID:9736772, PMID:9828128 ; - oboInOwl:hasDbXref UMLS:C1417435 ; oboInOwl:hasExactSynonym "MTMR1", "myotubularin-related protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8776 ; - skos:exactMatch HGNC_symbol:MTMR1 ; + skos:exactMatch UMLS:C1417435, + HGNC:7449, + HGNC_symbol:MTMR1 ; biolink:category biolink:Gene . OMIM:300179 a owl:Class ; @@ -412392,9 +428874,9 @@ OMIM:300179 a owl:Class ; PMID:9887372 ; RO:0002525 CHR:9606chrXq25-q26 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1846257 ; oboInOwl:hasExactSynonym "SXI2", "x inactivation, familial skewed, 2" ; + skos:exactMatch UMLS:C1846257 ; biolink:category biolink:Disease . OMIM:300186 a owl:Class ; @@ -412402,14 +428884,15 @@ OMIM:300186 a owl:Class ; IAO:0000142 PMID:23873042, PMID:8106356, PMID:9381176 ; - oboInOwl:hasDbXref UMLS:C1539339 ; oboInOwl:hasExactSynonym "EIF1AX", "eukaryotic translation initiation factor 1a", "eukaryotic translation initiation factor 1a, X-linked", "eukaryotic translation initiation factor 4c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1964 ; - skos:exactMatch HGNC_symbol:EIF1AX ; + skos:exactMatch UMLS:C1539339, + HGNC:3250, + HGNC_symbol:EIF1AX ; biolink:category biolink:Gene . OMIM:300192 a owl:Class ; @@ -412420,15 +428903,16 @@ OMIM:300192 a owl:Class ; PMID:9428816 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:300813 ; - oboInOwl:hasDbXref UMLS:C1420435, - UMLS:C1846243 ; oboInOwl:hasExactSynonym "SSX2", "sarcoma, synovial, 10 breakpoint 2", "sarcoma, synovial, x-chromosome-related 2", "ssx2-syt fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6757 ; - skos:exactMatch HGNC_symbol:SSX2 ; + skos:exactMatch UMLS:C1420435, + UMLS:C1846243, + HGNC:11336, + HGNC_symbol:SSX2 ; biolink:category biolink:Gene . OMIM:300199 a owl:Class ; @@ -412445,9 +428929,6 @@ OMIM:300199 a owl:Class ; PMID:9533010 ; RO:0002525 CHR:9606chrXq26.3 ; RO:0003303 OMIM:300238 ; - oboInOwl:hasDbXref UMLS:C1419308, - UMLS:C1419309, - UMLS:C1846239 ; oboInOwl:hasExactSynonym "RBMX", "heterogeneous nuclear ribonucleoprotein g", "rna-binding motif protein, 10 chromosome", @@ -412455,7 +428936,11 @@ OMIM:300199 a owl:Class ; "rna-binding motif protein, 10 chromosome, retrogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27316 ; - skos:exactMatch HGNC_symbol:RBMX ; + skos:exactMatch UMLS:C1419308, + UMLS:C1419309, + UMLS:C1846239, + HGNC:9910, + HGNC_symbol:RBMX ; biolink:category biolink:Gene . OMIM:300205 a owl:Class ; @@ -412491,22 +428976,23 @@ OMIM:300205 a owl:Class ; PMID:9760173 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300960 ; - oboInOwl:hasDbXref UMLS:C1414236 ; oboInOwl:hasExactSynonym "3-beta-hydroxysteroid-delta-8,delta-7 isomerase", "EBP", "emopamil-binding protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10682 ; - skos:exactMatch HGNC_symbol:EBP ; + skos:exactMatch UMLS:C1414236, + HGNC:3133, + HGNC_symbol:EBP ; biolink:category biolink:Gene . OMIM:300209 a owl:Class ; rdfs:label "simpson-golabi-behmel syndrome, iia 2" ; IAO:0000142 PMID:16783569 ; - oboInOwl:hasDbXref UMLS:C1846175, - ORPHA:79022 ; oboInOwl:hasExactSynonym "SGBS2", "simpson-golabi-behmel syndrome, iia 2" ; + skos:exactMatch UMLS:C1846175, + ORPHA:79022 ; biolink:category biolink:Disease . OMIM:300210 a owl:Class ; @@ -412514,20 +429000,20 @@ OMIM:300210 a owl:Class ; IAO:0000142 PMID:10449641, PMID:10655063, PMID:12070254 ; - oboInOwl:hasDbXref UMLS:C1846174 ; oboInOwl:hasExactSynonym "XLID58", "intellectual developmental disorder, X-linked 58", "mental retardation, X-linked 58" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1846174 ; biolink:category biolink:Disease . OMIM:300211 a owl:Class ; rdfs:label "episodic muscle weakness, X-linked" ; IAO:0000142 PMID:10486330 ; RO:0002525 CHR:9606chrXp22.3 ; - oboInOwl:hasDbXref UMLS:C1846173 ; oboInOwl:hasExactSynonym "EMWX", "episodic muscle weakness, X-linked" ; + skos:exactMatch UMLS:C1846173 ; biolink:category biolink:Disease . OMIM:300216 a owl:Class ; @@ -412538,21 +429024,21 @@ OMIM:300216 a owl:Class ; PMID:15882905, PMID:17563001, PMID:23221067 ; - oboInOwl:hasDbXref UMLS:C0154832 ; oboInOwl:hasExactSynonym "coats disease", - "retinal telangiectasis" . + "retinal telangiectasis" ; + skos:exactMatch UMLS:C0154832 . OMIM:300218 a owl:Class ; rdfs:label "intellectual developmental disorder, x-linked, syndromic 7" ; IAO:0000142 PMID:10208155, PMID:10573017 ; RO:0002525 CHR:9606chrXp11.3-q22 ; - oboInOwl:hasDbXref UMLS:C1846170 ; oboInOwl:hasExactSynonym "MRXS7", "ahmad X-linked mental retardation syndrome", "intellectual developmental disorder, x-linked, syndromic 7", "mental retardation, x-linked, syndromic 7" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1846170 ; biolink:category biolink:Disease . OMIM:300221 a owl:Class ; @@ -412566,9 +429052,9 @@ OMIM:300221 a owl:Class ; PMID:831107, PMID:9834235 ; RO:0002525 CHR:9606chrXpter-p22.32 ; - oboInOwl:hasDbXref UMLS:C1846167 ; oboInOwl:hasExactSynonym "hodgkin disease, X-linked pseudoautosomal", "lymphoma, hodgkin, X-linked pseudoautosomal" ; + skos:exactMatch UMLS:C1846167 ; biolink:category biolink:Disease . OMIM:300228 a owl:Class ; @@ -412577,9 +429063,9 @@ OMIM:300228 a owl:Class ; PMID:1425792, PMID:7841064 ; RO:0002525 CHR:9606chrXq27 ; - oboInOwl:hasDbXref UMLS:C1846164 ; oboInOwl:hasExactSynonym "TGCT1", "testicular germ cell tumor 1" ; + skos:exactMatch UMLS:C1846164 ; biolink:category biolink:Disease . OMIM:300237 a owl:Class ; @@ -412587,7 +429073,6 @@ OMIM:300237 a owl:Class ; IAO:0000142 PMID:10051408, PMID:7971997, PMID:8206389 ; - oboInOwl:hasDbXref UMLS:C1420626 ; oboInOwl:hasExactSynonym "TCEAL1", "p21", "sii-related gene", @@ -412595,7 +429080,9 @@ OMIM:300237 a owl:Class ; "transcription elongation factor a-like 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9338 ; - skos:exactMatch HGNC_symbol:TCEAL1 ; + skos:exactMatch UMLS:C1420626, + HGNC:11616, + HGNC_symbol:TCEAL1 ; biolink:category biolink:Gene . OMIM:300238 a owl:Class ; @@ -412603,13 +429090,13 @@ OMIM:300238 a owl:Class ; IAO:0000142 PMID:10677307, PMID:12605440, PMID:25256757 ; - oboInOwl:hasDbXref UMLS:C1846145 ; oboInOwl:hasExactSynonym "MRXS11", "intellectual developmental disorder, x-linked, syndromic 11", "mental retardation, x-linked, shashi iia", "mental retardation, x-linked, syndromic 11", "shashi X-linked mental retardation syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1846145 ; biolink:category biolink:Disease . OMIM:300240 a owl:Class ; @@ -412625,14 +429112,14 @@ OMIM:300243 a owl:Class ; PMID:20949524, PMID:25044251, PMID:27256868 ; - oboInOwl:hasDbXref UMLS:C2678194, - ORPHA:85278 ; oboInOwl:hasExactSynonym "MRXSCH", "angelman-like syndrome, X-linked", "intellectual developmental disorder, x-linked, syndromic, christianson iia", "mental retardation, microcephaly, epilepsy, and ataxia syndrome", "mental retardation, x-linked, syndromic, christianson iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C2678194, + ORPHA:85278 ; biolink:category biolink:Disease . OMIM:300244 a owl:Class ; @@ -412648,24 +429135,24 @@ OMIM:300244 a owl:Class ; PMID:30561107, PMID:4452723, PMID:9800904 ; - oboInOwl:hasDbXref UMLS:C1846129, - ORPHA:88630 ; oboInOwl:hasExactSynonym "TOD", "odpd", "odpf syndrome", "osseous dysplasia, digital, with facial pigmentary defects and multiple frenula", "terminal osseous dysplasia", "terminal osseous dysplasia and pigmentary defects" ; + skos:exactMatch UMLS:C1846129, + ORPHA:88630 ; biolink:category biolink:Disease . OMIM:300245 a owl:Class ; rdfs:label "ptosis, hereditary congenital 2" ; IAO:0000142 PMID:10739771 ; RO:0002525 CHR:9606chrXq24-q27.1 ; - oboInOwl:hasDbXref UMLS:C1846128 ; oboInOwl:hasExactSynonym "ptos2", "ptosis, X-linked", "ptosis, hereditary congenital 2" ; + skos:exactMatch UMLS:C1846128 ; biolink:category biolink:Disease . OMIM:300248 a owl:Class ; @@ -412731,13 +429218,6 @@ OMIM:300248 a owl:Class ; PMID:9927690 ; RO:0002525 CHR:9606chrXq28 ; RO:0003303 OMIM:308300 ; - oboInOwl:hasDbXref UMLS:C0021171, - UMLS:C1416380, - UMLS:C1846008, - UMLS:C1970879, - UMLS:C4749069, - UMLS:C5394562, - UMLS:C5394563 ; oboInOwl:hasExactSynonym "IKBKG", "fip3", "ikk-gamma", @@ -412746,7 +429226,15 @@ OMIM:300248 a owl:Class ; "nf-kappa-b essential modulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8517 ; - skos:exactMatch HGNC_symbol:IKBKG ; + skos:exactMatch UMLS:C0021171, + UMLS:C1416380, + UMLS:C1846008, + UMLS:C1970879, + UMLS:C4749069, + UMLS:C5394562, + UMLS:C5394563, + HGNC:5961, + HGNC_symbol:IKBKG ; biolink:category biolink:Gene . OMIM:300255 a owl:Class ; @@ -412770,14 +429258,15 @@ OMIM:300255 a owl:Class ; PMID:9083068 ; RO:0002525 CHR:9606chrXq13.1 ; RO:0003303 OMIM:300997 ; - oboInOwl:hasDbXref UMLS:C1417945 ; oboInOwl:hasExactSynonym "OGT", "glcnac transferase", "o-linked n-acetylglucosamine transferase", "udp-n-acetylglucosamine:polypeptide beta-n-acetylglucosaminyl transferase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8473 ; - skos:exactMatch HGNC_symbol:OGT ; + skos:exactMatch UMLS:C1417945, + HGNC:8127, + HGNC_symbol:OGT ; biolink:category biolink:Gene . OMIM:300256 a owl:Class ; @@ -412808,7 +429297,6 @@ OMIM:300256 a owl:Class ; PMID:9851691 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:300438 ; - oboInOwl:hasDbXref UMLS:C1825528 ; oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase 10", "2-methyl-3-hydroxybutyryl-coa dehydrogenase", "3-hydroxyacyl-coa dehydrogenase 2", @@ -412821,16 +429309,18 @@ OMIM:300256 a owl:Class ; "mitochondrial ribonuclease p protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3028 ; - skos:exactMatch HGNC_symbol:HSD17B10 ; + skos:exactMatch UMLS:C1825528, + HGNC:4800, + HGNC_symbol:HSD17B10 ; biolink:category biolink:Gene . OMIM:300259 a owl:Class ; rdfs:label "mycobacterium tuberculosis, susceptibility to, X-linked" ; IAO:0000142 PMID:10859364 ; RO:0002525 CHR:9606chrXq ; - oboInOwl:hasDbXref UMLS:C1866629 ; oboInOwl:hasExactSynonym "mtbsx", - "mycobacterium tuberculosis, susceptibility to, X-linked" . + "mycobacterium tuberculosis, susceptibility to, X-linked" ; + skos:exactMatch UMLS:C1866629 . OMIM:300260 a owl:Class ; rdfs:label "intellectual developmental disorder, x-linked, syndromic, lubs iia" ; @@ -412848,13 +429338,13 @@ OMIM:300260 a owl:Class ; PMID:22231481, PMID:26605526, PMID:26808898 ; - oboInOwl:hasDbXref UMLS:C1846058 ; oboInOwl:hasExactSynonym "MRXSL", "intellectual developmental disorder, x-linked, syndromic, lubs iia", "lubs X-linked mental retardation syndrome", "mecp2 duplication syndrome", "mental retardation, x-linked, with recurrent respiratory infections" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1846058 ; biolink:category biolink:Disease . OMIM:300261 a owl:Class ; @@ -412862,23 +429352,24 @@ OMIM:300261 a owl:Class ; IAO:0000142 PMID:10398235, PMID:32703943 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C1846057, - ORPHA:85276 ; oboInOwl:hasExactSynonym "MRXSA", "armfield X-linked mental retardation syndrome", "intellectual developmental disorder, x-linked, syndromic, armfield iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1846057, + ORPHA:85276 ; biolink:category biolink:Disease . OMIM:300262 a owl:Class ; - rdfs:label "abidi X-linked mental retardation syndrome" ; + rdfs:label "intellectual developmental disorder, x-linked, syndromic, abidi iia" ; IAO:0000142 PMID:10398233 ; RO:0002525 CHR:9606chrXq13.2 ; - oboInOwl:hasDbXref UMLS:C1846056 ; oboInOwl:hasExactSynonym "MRXSAB", "abidi X-linked mental retardation syndrome", + "intellectual developmental disorder, x-linked, syndromic, abidi iia", "mental retardation, x-linked, syndromic, abidi iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1846056 ; biolink:category biolink:Disease . OMIM:300263 a owl:Class ; @@ -412889,14 +429380,14 @@ OMIM:300263 a owl:Class ; PMID:17661819, PMID:18498374, PMID:19843542 ; - oboInOwl:hasDbXref UMLS:C1846055, - ORPHA:85287 ; oboInOwl:hasExactSynonym "MRXSSD", "intellectual developmental disorder, x-linked, syndromic, siderius iia", "mental retardation, x-linked, syndromic, siderius iia", "siderius X-linked mental retardation syndrome", "siderius-hamel syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1846055, + ORPHA:85287 ; biolink:category biolink:Disease . OMIM:300266 a owl:Class ; @@ -412904,10 +429395,10 @@ OMIM:300266 a owl:Class ; IAO:0000142 PMID:10982474, PMID:9254866 ; RO:0002525 CHR:9606chrXq11.2 ; - oboInOwl:hasDbXref UMLS:C1846046 ; oboInOwl:hasExactSynonym "SPG16", "spastic paraplegia 16, X-linked" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1846046 ; biolink:category biolink:Disease . OMIM:300273 a owl:Class ; @@ -412915,10 +429406,10 @@ OMIM:300273 a owl:Class ; IAO:0000142 PMID:10986044 ; RO:0002525 CHR:9606chrXp22 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1846033 ; oboInOwl:hasExactSynonym "MNG2", "goiter, multinodular 2" ; rdfs:subClassOf OMIMPS:138800 ; + skos:exactMatch UMLS:C1846033 ; biolink:category biolink:Disease . OMIM:300283 a owl:Class ; @@ -412929,13 +429420,14 @@ OMIM:300283 a owl:Class ; PMID:19329491, PMID:20951969, PMID:8599092 ; - oboInOwl:hasDbXref UMLS:C1334134 ; oboInOwl:hasExactSynonym "IRAK1", "interleukin 1 receptor-associated kinase 1", "irak" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3654 ; - skos:exactMatch HGNC_symbol:IRAK1 ; + skos:exactMatch UMLS:C1334134, + HGNC:6112, + HGNC_symbol:IRAK1 ; biolink:category biolink:Gene . OMIM:300284 a owl:Class ; @@ -412945,26 +429437,28 @@ OMIM:300284 a owl:Class ; PMID:16769818, PMID:23162002, PMID:9126495 ; - oboInOwl:hasDbXref UMLS:C1419219 ; oboInOwl:hasExactSynonym "RAB9", "ras-associated protein rab9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9367 ; - skos:exactMatch HGNC_symbol:RAB9A ; + skos:exactMatch UMLS:C1419219, + HGNC:9792, + HGNC_symbol:RAB9A ; biolink:category biolink:Gene . OMIM:300288 a owl:Class ; rdfs:label "PAGE1" ; IAO:0000142 PMID:9651357, PMID:9724777 ; - oboInOwl:hasDbXref UMLS:C1538566 ; oboInOwl:hasExactSynonym "PAGE1", "g antigen, family b, 1", "p antigen family, member 1", "prostate-associated gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8712 ; - skos:exactMatch HGNC_symbol:PAGE1 ; + skos:exactMatch UMLS:C1538566, + HGNC:4107, + HGNC_symbol:PAGE1 ; biolink:category biolink:Gene . OMIM:300290 a owl:Class ; @@ -412990,12 +429484,6 @@ OMIM:300291 a owl:Class ; PMID:25068423, PMID:27368913, PMID:31965418 ; - oboInOwl:hasDbXref UMLS:C1845919, - UMLS:C1846006, - UMLS:C1846008, - ORPHA:238468, - ORPHA:69088, - ORPHA:98813 ; oboInOwl:hasExactSynonym "EDAID1", "ectodermal dysplasia and immunodeficiency 1", "ectodermal dysplasia, anhidrotic, with immune deficiency", @@ -413003,6 +429491,12 @@ OMIM:300291 a owl:Class ; "ectodermal dysplasia, hypohidrotic, with immune deficiency", "hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia" ; rdfs:subClassOf OMIMPS:300291 ; + skos:exactMatch UMLS:C1845919, + UMLS:C1846006, + UMLS:C1846008, + ORPHA:238468, + ORPHA:69088, + ORPHA:98813 ; biolink:category biolink:Disease . OMIM:300297 a owl:Class ; @@ -413015,13 +429509,14 @@ OMIM:300297 a owl:Class ; PMID:15231996, PMID:22810587, PMID:9792798 ; - oboInOwl:hasDbXref UMLS:C1538915 ; oboInOwl:hasExactSynonym "APLN", "apelin", "apj receptor ligand" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8862 ; - skos:exactMatch HGNC_symbol:APLN ; + skos:exactMatch UMLS:C1538915, + HGNC:16665, + HGNC_symbol:APLN ; biolink:category biolink:Gene . OMIM:300298 a owl:Class ; @@ -413038,7 +429533,6 @@ OMIM:300298 a owl:Class ; PMID:9805132 ; RO:0002525 CHR:9606chrXq24 ; RO:0003303 OMIM:300676 ; - oboInOwl:hasDbXref UMLS:C1426937 ; oboInOwl:hasExactSynonym "UPF3B", "regulator of nonsense transcripts 3b", "upf3, yeast, homolog of, B", @@ -413046,7 +429540,9 @@ OMIM:300298 a owl:Class ; "upf3x" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65109 ; - skos:exactMatch HGNC_symbol:UPF3B ; + skos:exactMatch UMLS:C1426937, + HGNC:20439, + HGNC_symbol:UPF3B ; biolink:category biolink:Gene . OMIM:300304 a owl:Class ; @@ -413071,13 +429567,14 @@ OMIM:300304 a owl:Class ; PMID:9734811 ; RO:0002525 CHR:9606chrXq24 ; RO:0003303 OMIM:300354 ; - oboInOwl:hasDbXref UMLS:C1413826 ; oboInOwl:hasExactSynonym "CUL4B", "cullin 4b", "kiaa0695" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8450 ; - skos:exactMatch HGNC_symbol:CUL4B ; + skos:exactMatch UMLS:C1413826, + HGNC:2555, + HGNC_symbol:CUL4B ; biolink:category biolink:Gene . OMIM:300310 a owl:Class ; @@ -413085,13 +429582,13 @@ OMIM:300310 a owl:Class ; IAO:0000142 PMID:21708930, PMID:29636373, PMID:3502688 ; - oboInOwl:hasDbXref UMLS:C1845903 ; oboInOwl:hasExactSynonym "IMD61", "agammaglobulinemia, x-linked, iia 2", "immunodeficiency 61", "xla2" ; rdfs:subClassOf OMIMPS:300755, OMIMPS:601495 ; + skos:exactMatch UMLS:C1845903 ; biolink:category biolink:Disease . OMIM:300322 a owl:Class ; @@ -413137,8 +429634,6 @@ OMIM:300322 a owl:Class ; PMID:868880, PMID:8843475, PMID:9211189 ; - oboInOwl:hasDbXref UMLS:C0023374, - ORPHA:510 ; oboInOwl:hasExactSynonym "LNS", "hprt deficiency", "hprt deficiency, complete", @@ -413147,16 +429642,19 @@ OMIM:300322 a owl:Class ; "hypoxanthine guanine phosphoribosyltransferase 1 deficiency", "lesch-nyhan syndrome", "lesch-nyhan syndrome, neurologic variant" ; + skos:exactMatch UMLS:C0023374, + ORPHA:510 ; biolink:category biolink:Disease . OMIM:300324 a owl:Class ; - rdfs:label "mental retardation, X-linked 53" ; + rdfs:label "intellectual developmental disorder, X-linked 53" ; IAO:0000142 PMID:11337751 ; RO:0002525 CHR:9606chrXq22.2-q26 ; - oboInOwl:hasDbXref UMLS:C1845889 ; - oboInOwl:hasExactSynonym "MRX53", + oboInOwl:hasExactSynonym "XLID53", + "intellectual developmental disorder, X-linked 53", "mental retardation, X-linked 53" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845889 ; biolink:category biolink:Disease . OMIM:300337 a owl:Class ; @@ -413202,12 +429700,12 @@ OMIM:300337 a owl:Class ; PMID:8747421, PMID:8907350, PMID:9738871 ; - oboInOwl:hasDbXref UMLS:C0022283 ; oboInOwl:hasExactSynonym "HMI", "hypomelanosis of ito", "incontinentia pigmenti achromians", "incontinentia pigmenti, iia i, formerly", "ito hypomelanosis" ; + skos:exactMatch UMLS:C0022283 ; biolink:category biolink:Disease . OMIM:300338 a owl:Class ; @@ -413221,14 +429719,15 @@ OMIM:300338 a owl:Class ; PMID:25156905, PMID:7689061, PMID:8893025 ; - oboInOwl:hasDbXref UMLS:C1413544 ; oboInOwl:hasExactSynonym "CNGA2", "cyclic nucleotide-gated channel, alpha-2", "cyclic nucleotide-gated channel, olfactory, 2", "ocnc1, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1260 ; - skos:exactMatch HGNC_symbol:CNGA2 ; + skos:exactMatch UMLS:C1413544, + HGNC:2149, + HGNC_symbol:CNGA2 ; biolink:category biolink:Gene . OMIM:300345 a owl:Class ; @@ -413236,11 +429735,11 @@ OMIM:300345 a owl:Class ; IAO:0000142 PMID:11391653, PMID:22226084 ; RO:0002525 CHR:9606chrChr.X ; - oboInOwl:hasDbXref UMLS:C1845877 ; oboInOwl:hasExactSynonym "MCOPCB1", "microphthalmia, colobomatous, isolated 1", "microphthalmia, isolated, with coloboma 1" ; rdfs:subClassOf OMIMPS:300345 ; + skos:exactMatch UMLS:C1845877 ; biolink:category biolink:Disease . OMIM:300351 a owl:Class ; @@ -413249,21 +429748,22 @@ OMIM:300351 a owl:Class ; PMID:9141566, PMID:9745443 ; RO:0002525 CHR:9606chrXp11 ; - oboInOwl:hasDbXref UMLS:C2678151, - UMLS:C2678152 ; oboInOwl:hasExactSynonym "graves disease, susceptibility to, X-linked 1", "graves disease, susceptibility to, X-linked 2", "grdx1" ; + skos:exactMatch UMLS:C2678151, + UMLS:C2678152 ; biolink:category biolink:Disease . OMIM:300355 a owl:Class ; - rdfs:label "mental retardation, X-linked 73" ; + rdfs:label "intellectual developmental disorder, X-linked 73" ; IAO:0000142 PMID:11477616 ; RO:0002525 CHR:9606chrXp22.2 ; - oboInOwl:hasDbXref UMLS:C1845860 ; - oboInOwl:hasExactSynonym "MRX73", + oboInOwl:hasExactSynonym "XLID73", + "intellectual developmental disorder, X-linked 73", "mental retardation, X-linked 73" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845860 ; biolink:category biolink:Disease . OMIM:300357 a owl:Class ; @@ -413275,8 +429775,6 @@ OMIM:300357 a owl:Class ; PMID:19838194, PMID:21841801, PMID:24094650 ; - oboInOwl:hasDbXref UMLS:C1422539, - UMLS:C3275246 ; oboInOwl:hasExactSynonym "CRLF2", "crl2", "crlf2/p2ry8 fusion gene", @@ -413284,14 +429782,16 @@ OMIM:300357 a owl:Class ; "thymic stromal lymphopoietin receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64109 ; - skos:exactMatch HGNC_symbol:CRLF2 ; + skos:exactMatch UMLS:C1422539, + UMLS:C3275246, + HGNC:14281, + HGNC_symbol:CRLF2 ; biolink:category biolink:Gene . OMIM:300361 a owl:Class ; rdfs:label "NGFRAP1" ; IAO:0000142 PMID:10764727, PMID:2171551 ; - oboInOwl:hasDbXref UMLS:C1334878 ; oboInOwl:hasExactSynonym "NGFRAP1", "brain-expressed X-linked gene 3", "nerve growth factor receptor-associated protein 1", @@ -413299,7 +429799,9 @@ OMIM:300361 a owl:Class ; "p75(ntr)-associated cell death executor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27018 ; - skos:exactMatch HGNC_symbol:BEX3 ; + skos:exactMatch UMLS:C1334878, + HGNC:13388, + HGNC_symbol:BEX3 ; biolink:category biolink:Gene . OMIM:300367 a owl:Class ; @@ -413309,28 +429811,29 @@ OMIM:300367 a owl:Class ; PMID:11675338, PMID:11809723, PMID:22102271 ; - oboInOwl:hasDbXref UMLS:C3550789 ; oboInOwl:hasExactSynonym "XLTDA", "thrombocytopenia, x-linked, with or without dyserythropoietic anemia" ; + skos:exactMatch UMLS:C3550789 ; biolink:category biolink:Disease . OMIM:300372 a owl:Class ; - rdfs:label "mental retardation, X-linked 42" ; + rdfs:label "intellectual developmental disorder, X-linked 42" ; IAO:0000142 PMID:11807862 ; RO:0002525 CHR:9606chrXq26 ; - oboInOwl:hasDbXref UMLS:C1845810 ; - oboInOwl:hasExactSynonym "MRX42", - "mental retardation, X-linked 42" ; + oboInOwl:hasExactSynonym "XLID42", + "intellectual developmental disorder, X-linked 42", + "mental retardation, X-linked 4s" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845810 ; biolink:category biolink:Disease . OMIM:300378 a owl:Class ; rdfs:label "radial ray deficiency, X-linked" ; IAO:0000142 PMID:11571552 ; RO:0002525 CHR:9606chrXq24-q25 ; - oboInOwl:hasDbXref UMLS:C1845717 ; oboInOwl:hasExactSynonym "radial ray deficiency, X-linked", "rrdx" ; + skos:exactMatch UMLS:C1845717 ; biolink:category biolink:Disease . OMIM:300387 a owl:Class ; @@ -413339,12 +429842,12 @@ OMIM:300387 a owl:Class ; PMID:11889465, PMID:12525535, PMID:19617635 ; - oboInOwl:hasDbXref UMLS:C1845672 ; oboInOwl:hasExactSynonym "XLID63", "intellectual developmental disorder, X-linked 63", "mental retardation, X-linked 63", "mental retardation, X-linked 68" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845672 ; biolink:category biolink:Disease . OMIM:300388 a owl:Class ; @@ -413362,12 +429865,12 @@ OMIM:300388 a owl:Class ; PMID:8677028, PMID:8914634 ; RO:0002525 CHR:9606chrXq27.2-q28 ; - oboInOwl:hasDbXref UMLS:C1845668 ; oboInOwl:hasExactSynonym "BPPX", "bpp", "perisylvian syndrome, congenital bilateral", "pmgx", "polymicrogyria, bilateral perisylvian, X-linked" ; + skos:exactMatch UMLS:C1845668 ; biolink:category biolink:Disease . OMIM:300400 a owl:Class ; @@ -413424,7 +429927,6 @@ OMIM:300400 a owl:Class ; PMID:8943162, PMID:9063412, PMID:9143683 ; - oboInOwl:hasDbXref UMLS:C1279481 ; oboInOwl:hasExactSynonym "SCIDX1", "immunodeficiency 4", "scid, X-linked", @@ -413432,16 +429934,17 @@ OMIM:300400 a owl:Class ; "severe combined immunodeficiency, X-linked", "severe combined immunodeficiency, x-linked, t cell-negative, B cell-positive, nk cell-negative" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1279481 ; biolink:category biolink:Disease . OMIM:300406 a owl:Class ; rdfs:label "fg syndrome 3" ; IAO:0000142 PMID:12239712 ; RO:0002525 CHR:9606chrXp22.3 ; - oboInOwl:hasDbXref UMLS:C1845567 ; oboInOwl:hasExactSynonym "FGS3", "fg syndrome 3" ; rdfs:subClassOf OMIMPS:305400 ; + skos:exactMatch UMLS:C1845567 ; biolink:category biolink:Disease . OMIM:300408 a owl:Class ; @@ -413449,14 +429952,15 @@ OMIM:300408 a owl:Class ; IAO:0000142 PMID:10574461, PMID:10896157, PMID:15897011 ; - oboInOwl:hasDbXref UMLS:C1425725 ; oboInOwl:hasExactSynonym "GRIPAP1", "grasp1", "grip1-associated protein 1", "kiaa1167" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56850 ; - skos:exactMatch HGNC_symbol:GRIPAP1 ; + skos:exactMatch UMLS:C1425725, + HGNC:18706, + HGNC_symbol:GRIPAP1 ; biolink:category biolink:Gene . OMIM:300417 a owl:Class ; @@ -413464,7 +429968,6 @@ OMIM:300417 a owl:Class ; IAO:0000142 PMID:12142540, PMID:15086532, PMID:9455477 ; - oboInOwl:hasDbXref UMLS:C1539612 ; oboInOwl:hasExactSynonym "GPRASP1", "g protein-coupled receptor-associated sorting protein", "g protein-coupled receptor-associated sorting protein 1", @@ -413472,7 +429975,9 @@ OMIM:300417 a owl:Class ; "kiaa0443" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9737 ; - skos:exactMatch HGNC_symbol:GPRASP1 ; + skos:exactMatch UMLS:C1539612, + HGNC:24834, + HGNC_symbol:GPRASP1 ; biolink:category biolink:Gene . OMIM:300422 a owl:Class ; @@ -413483,13 +429988,13 @@ OMIM:300422 a owl:Class ; PMID:19377476, PMID:20029458, PMID:4365204 ; - oboInOwl:hasDbXref UMLS:C1845546, - UMLS:C3275356 ; oboInOwl:hasExactSynonym "FGS4", "fg syndrome 4", "intellectual developmental disorder, x-linked, with or without nystagmus", "mental retardation, x-linked, with or without nystagmus" ; rdfs:subClassOf OMIMPS:305400 ; + skos:exactMatch UMLS:C1845546, + UMLS:C3275356 ; biolink:category biolink:Disease . OMIM:300423 a owl:Class ; @@ -413498,14 +430003,14 @@ OMIM:300423 a owl:Class ; PMID:15746149, PMID:26467484, PMID:30985297 ; - oboInOwl:hasDbXref UMLS:C1845543, - ORPHA:2076, - ORPHA:93952 ; oboInOwl:hasExactSynonym "MRXSH", "intellectual developmental disorder, x-linked, syndromic, hedera iia", "mental retardation, x-linked, syndromic, hedera iia", "mental retardation, x-linked, with epilepsy" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1845543, + ORPHA:2076, + ORPHA:93952 ; biolink:category biolink:Disease . OMIM:300424 a owl:Class ; @@ -413513,11 +430018,11 @@ OMIM:300424 a owl:Class ; IAO:0000142 PMID:10892847, PMID:22619378, PMID:7611300 ; - oboInOwl:hasDbXref UMLS:C1419610, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP23", "retinitis pigmentosa 23" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1419610, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:300425 a owl:Class ; @@ -413529,21 +430034,21 @@ OMIM:300425 a owl:Class ; PMID:16880825, PMID:18698615, PMID:8655659 ; - oboInOwl:hasDbXref UMLS:C1845540 ; oboInOwl:hasExactSynonym "AUTSX1", "autism, susceptibility to, X-linked 1" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1845540 ; biolink:category biolink:Disease . OMIM:300433 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 81" ; IAO:0000142 PMID:12673650 ; RO:0002525 CHR:9606chrXp11.2-q12 ; - oboInOwl:hasDbXref UMLS:C1845531 ; oboInOwl:hasExactSynonym "XLID81", "intellectual developmental disorder, X-linked 81", "mental retardation, X-linked 81" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845531 ; biolink:category biolink:Disease . OMIM:300434 a owl:Class ; @@ -413551,12 +430056,12 @@ OMIM:300434 a owl:Class ; IAO:0000142 PMID:12673656, PMID:16249884, PMID:26740508 ; - oboInOwl:hasDbXref UMLS:C1845530 ; oboInOwl:hasExactSynonym "SDSX", "intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia", "mental retardation, x-linked, syndromic, stocco dos santos iia", "stocco dos santos X-linked mental retardation syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1845530 ; biolink:category biolink:Disease . OMIM:300446 a owl:Class ; @@ -413567,14 +430072,15 @@ OMIM:300446 a owl:Class ; PMID:7958444, PMID:8786129, PMID:9344676 ; - oboInOwl:hasDbXref UMLS:C1845515 ; oboInOwl:hasExactSynonym "RHOXF1", "homeobox protein, pepp subfamily, 1", "ovary-, testis-, and epididymis-expressed gene", "rhox homeobox family, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:158800 ; - skos:exactMatch HGNC_symbol:RHOXF1 ; + skos:exactMatch UMLS:C1845515, + HGNC:29993, + HGNC_symbol:RHOXF1 ; biolink:category biolink:Gene . OMIM:300448 a owl:Class ; @@ -413582,21 +430088,21 @@ OMIM:300448 a owl:Class ; IAO:0000142 PMID:12858175, PMID:2649166, PMID:273430 ; - oboInOwl:hasDbXref UMLS:C0585216 ; oboInOwl:hasExactSynonym "ATMDS", "alpha-thalassemia myelodysplasia syndrome", "hemoglobin h disease, acquired" ; + skos:exactMatch UMLS:C0585216 ; biolink:category biolink:Disease . OMIM:300454 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 77" ; IAO:0000142 PMID:12949971 ; RO:0002525 CHR:9606chrXq12-q21.3 ; - oboInOwl:hasDbXref UMLS:C1845499 ; oboInOwl:hasExactSynonym "XLID77", "intellectual developmental disorder, X-linked 77", "mental retardation, X-linked 77" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845499 ; biolink:category biolink:Disease . OMIM:300455 a owl:Class ; @@ -413609,35 +430115,35 @@ OMIM:300455 a owl:Class ; PMID:3345154, PMID:450098, PMID:7400333 ; - oboInOwl:hasDbXref UMLS:C2749137 ; oboInOwl:hasExactSynonym "retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness" ; + skos:exactMatch UMLS:C2749137 ; biolink:category biolink:Disease . OMIM:300464 a owl:Class ; rdfs:label "coronary heart disease, susceptibility to, 3" ; IAO:0000142 PMID:11078477 ; RO:0002525 CHR:9606chrXq23-q26 ; - oboInOwl:hasDbXref UMLS:C1845454 ; oboInOwl:hasExactSynonym "chds3", "coronary heart disease, susceptibility to, 3" ; + skos:exactMatch UMLS:C1845454 ; biolink:category biolink:Disease . OMIM:300471 a owl:Class ; - rdfs:label "cubitus valgus with mental retardation and unusual facies" ; + rdfs:label "cubitus valgus with impaired intellectual development and unusual facies" ; IAO:0000142 PMID:14556244 ; RO:0002525 CHR:9606chrChr.X ; - oboInOwl:hasDbXref UMLS:C1845450 ; - oboInOwl:hasExactSynonym "cubitus valgus with mental retardation and unusual facies" ; + oboInOwl:hasExactSynonym "cubitus valgus with impaired intellectual development and unusual facies" ; + skos:exactMatch UMLS:C1845450 ; biolink:category biolink:Disease . OMIM:300472 a owl:Class ; rdfs:label "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia" ; IAO:0000142 PMID:14556245 ; - oboInOwl:hasDbXref UMLS:C1845446 ; oboInOwl:hasExactSynonym "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia", "intellectual development disorder, x-linked, syndromic 28", "mental retardation, x-linked, syndromic 28" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1845446 ; biolink:category biolink:Disease . OMIM:300475 a owl:Class ; @@ -413645,11 +430151,11 @@ OMIM:300475 a owl:Class ; IAO:0000142 PMID:11992258, PMID:22472424, PMID:24011989 ; - oboInOwl:hasDbXref UMLS:C1845408, - UMLS:C3806634 ; oboInOwl:hasExactSynonym "DDCH", "contiguous abcd1/dxs1375e deletion syndrome", "deafness, dystonia, and cerebral hypomyelination" ; + skos:exactMatch UMLS:C1845408, + UMLS:C3806634 ; biolink:category biolink:Disease . OMIM:300486 a owl:Class ; @@ -413663,12 +430169,12 @@ OMIM:300486 a owl:Class ; PMID:20528889, PMID:9195162, PMID:9582072 ; - oboInOwl:hasDbXref UMLS:C1845366 ; oboInOwl:hasExactSynonym "MRXSBL", "intellectual developmental disorder, x-linked, syndromic, billuart iia", "mental retardation, X-linked 60, formerly", "mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1845366 ; biolink:category biolink:Disease . OMIM:300488 a owl:Class ; @@ -413684,9 +430190,9 @@ OMIM:300488 a owl:Class ; PMID:9626112, PMID:9798581 ; RO:0002525 CHR:9606chrXp21.3 ; - oboInOwl:hasDbXref UMLS:C1970897 ; oboInOwl:hasExactSynonym "MENOQ1", "menopause, natural, age at, quantitative trait locus 1" ; + skos:exactMatch UMLS:C1970897 ; biolink:category biolink:Disease . OMIM:300489 a owl:Class ; @@ -413694,11 +430200,11 @@ OMIM:300489 a owl:Class ; IAO:0000142 PMID:14985388, PMID:19153371, PMID:20170900 ; - oboInOwl:hasDbXref UMLS:C1845359 ; oboInOwl:hasExactSynonym "SMAX3", "dsmax", "spinal muscular atrophy, distal, X-linked 3", "spinal muscular atrophy, distal, X-linked recessive" ; + skos:exactMatch UMLS:C1845359 ; biolink:category biolink:Disease . OMIM:300495 a owl:Class ; @@ -413711,12 +430217,12 @@ OMIM:300495 a owl:Class ; PMID:18231125, PMID:18698615, PMID:8655659 ; - oboInOwl:hasDbXref UMLS:C1136249, - UMLS:C1845539 ; oboInOwl:hasExactSynonym "AUTSX2", "autism, susceptibility to, X-linked 2", "intellectual developmental disorder, X-linked" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1136249, + UMLS:C1845539 ; biolink:category biolink:Disease . OMIM:300496 a owl:Class ; @@ -413729,10 +430235,10 @@ OMIM:300496 a owl:Class ; PMID:18698615, PMID:23352163, PMID:8655659 ; - oboInOwl:hasDbXref UMLS:C1845336 ; oboInOwl:hasExactSynonym "AUTSX3", "autism, susceptibility to, X-linked 3" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1845336 ; biolink:category biolink:Disease . OMIM:300500 a owl:Class ; @@ -413773,20 +430279,21 @@ OMIM:300500 a owl:Class ; PMID:9529334, PMID:985163, PMID:9887374 ; - oboInOwl:hasDbXref UMLS:C0342684 ; oboInOwl:hasExactSynonym "OA1", "albinism, ocular, iia 1", "nettleship-falls iia ocular albinism" ; + skos:exactMatch UMLS:C0342684 ; biolink:category biolink:Disease . OMIM:300505 a owl:Class ; - rdfs:label "mental retardation, X-linked 84" ; + rdfs:label "intellectual developmental disorder, X-linked 84" ; IAO:0000142 PMID:15326629 ; RO:0002525 CHR:9606chrXp11.3-q22.3 ; - oboInOwl:hasDbXref UMLS:C1845297 ; - oboInOwl:hasExactSynonym "MRX84", + oboInOwl:hasExactSynonym "XLID84", + "intellectual developmental disorder, X-linked 84", "mental retardation, X-linked 84" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845297 ; biolink:category biolink:Disease . OMIM:300506 a owl:Class ; @@ -413798,14 +430305,15 @@ OMIM:300506 a owl:Class ; PMID:17147695, PMID:17492054, PMID:8982256 ; - oboInOwl:hasDbXref UMLS:C1540075 ; oboInOwl:hasExactSynonym "TSC22D3", "delta sleep-inducing peptide, immunoreactor", "glucocorticoid-induced leucine zipper", "tsc22 domain family, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1831 ; - skos:exactMatch HGNC_symbol:TSC22D3 ; + skos:exactMatch UMLS:C1540075, + HGNC:3051, + HGNC_symbol:TSC22D3 ; biolink:category biolink:Gene . OMIM:300509 a owl:Class ; @@ -413813,9 +430321,9 @@ OMIM:300509 a owl:Class ; IAO:0000142 PMID:11743577, PMID:15342694 ; RO:0002525 CHR:9606chrXq27.3 ; - oboInOwl:hasDbXref UMLS:C1845296 ; oboInOwl:hasExactSynonym "DYX9", "dyslexia, susceptibility to, 9" ; + skos:exactMatch UMLS:C1845296 ; biolink:category biolink:Disease . OMIM:300510 a owl:Class ; @@ -413831,9 +430339,6 @@ OMIM:300510 a owl:Class ; PMID:7553856, PMID:9496345, PMID:9837829 ; - oboInOwl:hasDbXref UMLS:C1845294, - UMLS:C1845295, - ORPHA:243 ; oboInOwl:hasExactSynonym "ODG2", "ovarian dysgenesis 2", "ovarian dysgenesis, hypergonadotropic, X-linked", @@ -413841,6 +430346,9 @@ OMIM:300510 a owl:Class ; "premature ovarian failure 4" ; rdfs:subClassOf OMIMPS:233300, OMIMPS:311360 ; + skos:exactMatch UMLS:C1845294, + UMLS:C1845295, + ORPHA:243 ; biolink:category biolink:Disease . OMIM:300511 a owl:Class ; @@ -413850,22 +430358,23 @@ OMIM:300511 a owl:Class ; PMID:8406446, PMID:9070928, PMID:9497258 ; - oboInOwl:hasDbXref UMLS:C1845293 ; oboInOwl:hasExactSynonym "POF2A", "premature ovarian failure 2a" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C1845293 ; biolink:category biolink:Disease . OMIM:300512 a owl:Class ; rdfs:label "WDR13" ; IAO:0000142 PMID:12659815, PMID:22715406 ; - oboInOwl:hasDbXref UMLS:C1422586 ; oboInOwl:hasExactSynonym "WDR13", "wd repeat-containing protein 13" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64743 ; - skos:exactMatch HGNC_symbol:WDR13 ; + skos:exactMatch UMLS:C1422586, + HGNC:14352, + HGNC_symbol:WDR13 ; biolink:category biolink:Gene . OMIM:300516 a owl:Class ; @@ -413878,24 +430387,25 @@ OMIM:300516 a owl:Class ; PMID:26944472 ; RO:0002525 CHR:9606chrXq27.1 ; RO:0003303 OMIM:301015 ; - oboInOwl:hasDbXref UMLS:C1422062 ; oboInOwl:hasExactSynonym "ATP11C", "atpase 1g", "atpase 1q", "atpase, class vi, iia 11c" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:286410 ; - skos:exactMatch HGNC_symbol:ATP11C ; + skos:exactMatch UMLS:C1422062, + HGNC:13554, + HGNC_symbol:ATP11C ; biolink:category biolink:Gene . OMIM:300518 a owl:Class ; rdfs:label "mental retardation, X-linked 82" ; IAO:0000142 PMID:15526294 ; RO:0002525 CHR:9606chrXq24-q25 ; - oboInOwl:hasDbXref UMLS:C1845286 ; oboInOwl:hasExactSynonym "MRX82", "mental retardation, X-linked 82" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845286 ; biolink:category biolink:Disease . OMIM:300519 a owl:Class ; @@ -413903,12 +430413,12 @@ OMIM:300519 a owl:Class ; IAO:0000142 PMID:11073537, PMID:15389700 ; RO:0002525 CHR:9606chrXq13-q21 ; - oboInOwl:hasDbXref UMLS:C1845285 ; oboInOwl:hasExactSynonym "MRXSMP", "martin-probst deafness-mental retardation syndrome", "martin-probst syndrome", "mental retardation, x-linked, syndromic, martin-probst iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1845285 ; biolink:category biolink:Disease . OMIM:300531 a owl:Class ; @@ -413916,13 +430426,14 @@ OMIM:300531 a owl:Class ; IAO:0000142 PMID:15772651, PMID:16500999, PMID:9458049 ; - oboInOwl:hasDbXref UMLS:C1420384 ; oboInOwl:hasExactSynonym "SPRY3", "sprouty rtk signaling antagonist 3", "sprouty, drosophila, homolog of, 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10251 ; - skos:exactMatch HGNC_symbol:SPRY3 ; + skos:exactMatch UMLS:C1420384, + HGNC:11271, + HGNC_symbol:SPRY3 ; biolink:category biolink:Gene . OMIM:300534 a owl:Class ; @@ -413937,31 +430448,31 @@ OMIM:300534 a owl:Class ; PMID:19826449, PMID:21575681, PMID:32279304 ; - oboInOwl:hasDbXref UMLS:C1845243, - ORPHA:85279 ; oboInOwl:hasExactSynonym "MRXSCJ", "intellectual developmental disorder, x-linked, syndromic, claes-jensen iia", "mental retardation, x-linked, syndromic, claes-jensen iia", "mental retardation, x-linked, syndromic, jarid1c-related" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1845243, + ORPHA:85279 ; biolink:category biolink:Disease . OMIM:300536 a owl:Class ; rdfs:label "bone mineral density quantitative trait locus 4" ; IAO:0000142 PMID:15466007 ; RO:0002525 CHR:9606chrXq27 ; - oboInOwl:hasDbXref UMLS:C1845236 ; oboInOwl:hasExactSynonym "BMND4", "bone mineral density quantitative trait locus 4" ; + skos:exactMatch UMLS:C1845236 ; biolink:category biolink:Disease . OMIM:300539 a owl:Class ; rdfs:label "nephrogenic syndrome of inappropriate antidiuresis" ; IAO:0000142 PMID:15872203, PMID:5337379 ; - oboInOwl:hasDbXref UMLS:C1845202 ; oboInOwl:hasExactSynonym "NSIAD", "nephrogenic syndrome of inappropriate antidiuresis" ; + skos:exactMatch UMLS:C1845202 ; biolink:category biolink:Disease . OMIM:300550 a owl:Class ; @@ -414010,13 +430521,14 @@ OMIM:300550 a owl:Class ; PMID:9768674 ; RO:0002525 CHR:9606chrXp22.11 ; RO:0003303 OMIM:307800 ; - oboInOwl:hasDbXref UMLS:C1418526 ; oboInOwl:hasExactSynonym "PHEX", "pex", "phosphate-regulating endopeptidase homolog, X-linked" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5251 ; - skos:exactMatch HGNC_symbol:PHEX ; + skos:exactMatch UMLS:C1418526, + HGNC:8918, + HGNC_symbol:PHEX ; biolink:category biolink:Gene . OMIM:300557 a owl:Class ; @@ -414026,11 +430538,11 @@ OMIM:300557 a owl:Class ; PMID:12402251, PMID:12925570 ; RO:0002525 CHR:9606chrXq21-q25 ; - oboInOwl:hasDbXref UMLS:C1845165 ; oboInOwl:hasExactSynonym "PARK12", "parkinson disease 12", "parkinson disease, X-linked" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1845165 ; biolink:category biolink:Disease . OMIM:300558 a owl:Class ; @@ -414042,13 +430554,13 @@ OMIM:300558 a owl:Class ; PMID:8826460, PMID:9332663, PMID:9731525 ; - oboInOwl:hasDbXref UMLS:C0796237, - UMLS:C0796249 ; oboInOwl:hasExactSynonym "XLID30", "intellectual developmental disorder, X-linked 30", "mental retardation, X-linked 30", "mental retardation, X-linked 47" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796237, + UMLS:C0796249 ; biolink:category biolink:Disease . OMIM:300559 a owl:Class ; @@ -414063,12 +430575,12 @@ OMIM:300559 a owl:Class ; PMID:8145916, PMID:8298647, PMID:9731190 ; - oboInOwl:hasDbXref UMLS:C1845151 ; oboInOwl:hasExactSynonym "GSD9D", "glycogen storage disease, iia ixd", "gsd ixd", "muscle glycogenosis, X-linked", "muscle phosphorylase kinase deficiency" ; + skos:exactMatch UMLS:C1845151 ; biolink:category biolink:Disease . OMIM:300561 a owl:Class ; @@ -414077,7 +430589,6 @@ OMIM:300561 a owl:Class ; PMID:14550773, PMID:14557068, PMID:9881668 ; - oboInOwl:hasDbXref UMLS:C1422001 ; oboInOwl:hasExactSynonym "SLITRK2", "chromosome 10 open reading frame 1", "chromosome 10 open reading frame 2", @@ -414086,7 +430597,9 @@ OMIM:300561 a owl:Class ; "transmembrane protein 257" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84631 ; - skos:exactMatch HGNC_symbol:SLITRK2 ; + skos:exactMatch UMLS:C1422001, + HGNC:13449, + HGNC_symbol:SLITRK2 ; biolink:category biolink:Gene . OMIM:300572 a owl:Class ; @@ -414097,7 +430610,6 @@ OMIM:300572 a owl:Class ; PMID:9150425 ; RO:0002525 CHR:9606chrXp22.13 ; RO:0003303 OMIM:300985 ; - oboInOwl:hasDbXref UMLS:C1415250 ; oboInOwl:hasExactSynonym "ADGRG2", "adhesion g protein-coupled receptor g2", "g protein-coupled receptor 64", @@ -414105,7 +430617,9 @@ OMIM:300572 a owl:Class ; "human epididymis-specific protein 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10149 ; - skos:exactMatch HGNC_symbol:ADGRG2 ; + skos:exactMatch UMLS:C1415250, + HGNC:4516, + HGNC_symbol:ADGRG2 ; biolink:category biolink:Gene . OMIM:300574 a owl:Class ; @@ -414129,33 +430643,34 @@ OMIM:300574 a owl:Class ; PMID:9064356, PMID:9419219, PMID:9842912 ; - oboInOwl:hasDbXref UMLS:C1332822 ; oboInOwl:hasExactSynonym "CXCR3", "cd183 antigen", "chemokine, cxc motif, receptor 3", "g protein-coupled receptor 9" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2833 ; - skos:exactMatch HGNC_symbol:CXCR3 ; + skos:exactMatch UMLS:C1332822, + HGNC:4540, + HGNC_symbol:CXCR3 ; biolink:category biolink:Gene . OMIM:300580 a owl:Class ; rdfs:label "myopathy, congenital, with fiber-type disproportion, X-linked" ; IAO:0000142 PMID:16173074 ; RO:0002525 CHR:9606chrXq13.1-q22.1 ; - oboInOwl:hasDbXref UMLS:C2749128 ; oboInOwl:hasExactSynonym "CFTDX", "myopathy, congenital, with fiber-type disproportion, X-linked" ; + skos:exactMatch UMLS:C2749128 ; biolink:category biolink:Disease . OMIM:300581 a owl:Class ; rdfs:label "fg syndrome 5" ; IAO:0000142 PMID:16283679 ; RO:0002525 CHR:9606chrXq22.3 ; - oboInOwl:hasDbXref UMLS:C1845119 ; oboInOwl:hasExactSynonym "FGS5", "fg syndrome 5" ; rdfs:subClassOf OMIMPS:305400 ; + skos:exactMatch UMLS:C1845119 ; biolink:category biolink:Disease . OMIM:300589 a owl:Class ; @@ -414165,10 +430680,10 @@ OMIM:300589 a owl:Class ; PMID:18087240, PMID:9973299 ; RO:0002525 CHR:9606chrXp11.4 ; - oboInOwl:hasDbXref UMLS:C1845116 ; oboInOwl:hasExactSynonym "NYS5", "nystagmus 5, congenital, X-linked" ; rdfs:subClassOf OMIMPS:310700 ; + skos:exactMatch UMLS:C1845116 ; biolink:category biolink:Disease . OMIM:300591 a owl:Class ; @@ -414178,9 +430693,9 @@ OMIM:300591 a owl:Class ; PMID:15469424, PMID:16446976 ; RO:0002525 CHR:9606chrXq24-q25 ; - oboInOwl:hasDbXref UMLS:C1845115 ; oboInOwl:hasExactSynonym "STQTL6", "stature quantitative trait locus 6" ; + skos:exactMatch UMLS:C1845115 ; biolink:category biolink:Disease . OMIM:300594 a owl:Class ; @@ -414188,12 +430703,13 @@ OMIM:300594 a owl:Class ; IAO:0000142 PMID:10397259, PMID:18179644, PMID:7544395 ; - oboInOwl:hasDbXref UMLS:C1414930 ; oboInOwl:hasExactSynonym "GAGE1", "g antigen 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2543 ; - skos:exactMatch HGNC_symbol:GAGE1 ; + skos:exactMatch UMLS:C1414930, + HGNC:4098, + HGNC_symbol:GAGE1 ; biolink:category biolink:Gene . OMIM:300595 a owl:Class ; @@ -414201,90 +430717,95 @@ OMIM:300595 a owl:Class ; IAO:0000142 PMID:10397259, PMID:18179644, PMID:7544395 ; - oboInOwl:hasDbXref UMLS:C2239467 ; oboInOwl:hasExactSynonym "GAGE2C", "g antigen 2c", "gage2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2574 ; - skos:exactMatch HGNC_symbol:GAGE2C ; + skos:exactMatch UMLS:C2239467, + HGNC:31958, + HGNC_symbol:GAGE2C ; biolink:category biolink:Gene . OMIM:300596 a owl:Class ; rdfs:label "GAGE3" ; IAO:0000142 PMID:16382448, PMID:7544395 ; - oboInOwl:hasDbXref UMLS:C1414932 ; oboInOwl:hasExactSynonym "GAGE3", "g antigen 3" ; rdfs:subClassOf SO:0000704 ; + skos:exactMatch UMLS:C1414932 ; biolink:category biolink:Gene . OMIM:300597 a owl:Class ; rdfs:label "GAGE4" ; IAO:0000142 PMID:16382448, PMID:7544395 ; - oboInOwl:hasDbXref UMLS:C1414933 ; oboInOwl:hasExactSynonym "GAGE4", "g antigen 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2576 ; - skos:exactMatch HGNC_symbol:GAGE4 ; + skos:exactMatch UMLS:C1414933, + HGNC:4101, + HGNC_symbol:GAGE4 ; biolink:category biolink:Gene . OMIM:300598 a owl:Class ; rdfs:label "GAGE5" ; IAO:0000142 PMID:16382448, PMID:7544395 ; - oboInOwl:hasDbXref UMLS:C1414934 ; oboInOwl:hasExactSynonym "GAGE5", "g antigen 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2577 ; - skos:exactMatch HGNC_symbol:GAGE5 ; + skos:exactMatch UMLS:C1414934, + HGNC:4102, + HGNC_symbol:GAGE5 ; biolink:category biolink:Gene . OMIM:300599 a owl:Class ; rdfs:label "GAGE6" ; IAO:0000142 PMID:16382448, PMID:7544395 ; - oboInOwl:hasDbXref UMLS:C1414935 ; oboInOwl:hasExactSynonym "GAGE6", "g antigen 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2578 ; - skos:exactMatch HGNC_symbol:GAGE6 ; + skos:exactMatch UMLS:C1414935, + HGNC:4103, + HGNC_symbol:GAGE6 ; biolink:category biolink:Gene . OMIM:300601 a owl:Class ; rdfs:label "GAGE7" ; IAO:0000142 PMID:16382448, PMID:9651357 ; - oboInOwl:hasDbXref UMLS:C1414936 ; oboInOwl:hasExactSynonym "GAGE7", "g antigen 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2579 ; - skos:exactMatch HGNC_symbol:GAGE7 ; + skos:exactMatch UMLS:C1414936, + HGNC:4104, + HGNC_symbol:GAGE7 ; biolink:category biolink:Gene . OMIM:300604 a owl:Class ; rdfs:label "premature ovarian failure 2b" ; IAO:0000142 PMID:16773570 ; - oboInOwl:hasDbXref UMLS:C1845105 ; oboInOwl:hasExactSynonym "POF2B", "premature ovarian failure 2b" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C1845105 ; biolink:category biolink:Disease . OMIM:300605 a owl:Class ; rdfs:label "retinitis pigmentosa 34" ; IAO:0000142 PMID:16740911 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C1845104 ; oboInOwl:hasExactSynonym "RP34", "retinitis pigmentosa 34" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1845104 ; biolink:category biolink:Disease . OMIM:300607 a owl:Class ; @@ -414292,14 +430813,14 @@ OMIM:300607 a owl:Class ; IAO:0000142 PMID:15215304, PMID:17893116, PMID:21633362 ; - oboInOwl:hasDbXref UMLS:C1845102, - ORPHA:163985, - ORPHA:2076 ; oboInOwl:hasExactSynonym "DEE8", "developmental and epileptic encephalopathy 8", "epileptic encephalopathy, early infantile, 8", "hyperekplexia and epilepsy" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C1845102, + ORPHA:163985, + ORPHA:2076 ; biolink:category biolink:Disease . OMIM:300609 a owl:Class ; @@ -414309,7 +430830,6 @@ OMIM:300609 a owl:Class ; PMID:30224647 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:301032 ; - oboInOwl:hasDbXref UMLS:C1845101 ; oboInOwl:hasExactSynonym "MSL3", "drosophila msl3-like 1", "male-specific lethal 3, drosophila, homolog of", @@ -414317,7 +430837,9 @@ OMIM:300609 a owl:Class ; "msl complex subunit 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10943 ; - skos:exactMatch HGNC_symbol:MSL3 ; + skos:exactMatch UMLS:C1845101, + HGNC:7370, + HGNC_symbol:MSL3 ; biolink:category biolink:Gene . OMIM:300610 a owl:Class ; @@ -414328,14 +430850,15 @@ OMIM:300610 a owl:Class ; PMID:7959728 ; RO:0002525 CHR:9606chrXq22.1 ; RO:0003303 OMIM:300986 ; - oboInOwl:hasDbXref UMLS:C1845100 ; oboInOwl:hasExactSynonym "HNRNPH2", "heterogeneous nuclear ribonucleoprotein h-prime", "heterogeneous nuclear ribonucleoprotein h2", "hnrph2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3188 ; - skos:exactMatch HGNC_symbol:HNRNPH2 ; + skos:exactMatch UMLS:C1845100, + HGNC:5042, + HGNC_symbol:HNRNPH2 ; biolink:category biolink:Gene . OMIM:300613 a owl:Class ; @@ -414343,10 +430866,10 @@ OMIM:300613 a owl:Class ; IAO:0000142 PMID:16648373, PMID:17351708 ; RO:0002525 CHR:9606chrXq23-q27.2 ; - oboInOwl:hasDbXref UMLS:C1845096 ; oboInOwl:hasExactSynonym "MYP13", "myopia 13, X-linked" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1845096 ; biolink:category biolink:Disease . OMIM:300615 a owl:Class ; @@ -414360,11 +430883,11 @@ OMIM:300615 a owl:Class ; PMID:7649563, PMID:8211186, PMID:8503438 ; - oboInOwl:hasDbXref UMLS:C0796275, - UMLS:C4310831 ; oboInOwl:hasExactSynonym "BRNRS", "antisocial behavior, susceptibility to", "brunner syndrome" ; + skos:exactMatch UMLS:C0796275, + UMLS:C4310831 ; biolink:category biolink:Disease . OMIM:300624 a owl:Class ; @@ -414555,7 +431078,6 @@ OMIM:300624 a owl:Class ; PMID:9831342, PMID:9916838, PMID:9973286 ; - oboInOwl:hasDbXref UMLS:C0016667 ; oboInOwl:hasExactSynonym "FXS", "X-linked mental retardation and macroorchidism", "fragile 10 mental retardation syndrome", @@ -414564,6 +431086,7 @@ OMIM:300624 a owl:Class ; "martin-bell syndrome", "mental retardation, x-linked, associated with marxq28" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0016667 ; biolink:category biolink:Disease . OMIM:300629 a owl:Class ; @@ -414579,14 +431102,15 @@ OMIM:300629 a owl:Class ; PMID:9733768 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:304340 ; - oboInOwl:hasDbXref UMLS:C1412440 ; oboInOwl:hasExactSynonym "AP1S2", "adaptor-related protein complex 1, sigma-2 subunit", "clathrin adaptor complex ap1, sigma-1b subunit", "clathrin-associated/assembly/adaptor protein, small 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8905 ; - skos:exactMatch HGNC_symbol:AP1S2 ; + skos:exactMatch UMLS:C1412440, + HGNC:560, + HGNC_symbol:AP1S2 ; biolink:category biolink:Gene . OMIM:300635 a owl:Class ; @@ -414600,11 +431124,11 @@ OMIM:300635 a owl:Class ; PMID:25744037, PMID:25943627, PMID:26182687 ; - oboInOwl:hasDbXref UMLS:C1845076 ; oboInOwl:hasExactSynonym "XLP2", "lymphoproliferative syndrome, x-linked, 2", "xiap deficiency" ; rdfs:subClassOf OMIMPS:308240 ; + skos:exactMatch UMLS:C1845076 ; biolink:category biolink:Disease . OMIM:300643 a owl:Class ; @@ -414613,22 +431137,22 @@ OMIM:300643 a owl:Class ; PMID:23871722, PMID:23933820, PMID:24995671 ; - oboInOwl:hasDbXref UMLS:C1845070 ; oboInOwl:hasExactSynonym "RESDX", "rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked", "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked" ; + skos:exactMatch UMLS:C1845070 ; biolink:category biolink:Disease . OMIM:300645 a owl:Class ; rdfs:label "immunodeficiency 34" ; IAO:0000142 PMID:17293536, PMID:21278736 ; - oboInOwl:hasDbXref UMLS:C1970859 ; oboInOwl:hasExactSynonym "IMD34", "atypical mycobacteriosis, familial, X-linked 2", "immunodeficiency 34", "immunodeficiency 34, mycobacteriosis, X-linked" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1970859 ; biolink:category biolink:Disease . OMIM:300650 a owl:Class ; @@ -414636,12 +431160,12 @@ OMIM:300650 a owl:Class ; IAO:0000142 PMID:6542750, PMID:8288253 ; RO:0002525 CHR:9606chrXp22.3 ; - oboInOwl:hasDbXref UMLS:C1845069, - ORPHA:1000 ; oboInOwl:hasExactSynonym "OASD", "albinism, ocular, with late-onset sensorineural deafness", "deafness and ocular albinism", - "ocular albinism with sensorineural deafness" . + "ocular albinism with sensorineural deafness" ; + skos:exactMatch UMLS:C1845069, + ORPHA:1000 . OMIM:300652 a owl:Class ; rdfs:label "angioma serpiginosum, X-linked" ; @@ -414651,8 +431175,8 @@ OMIM:300652 a owl:Class ; PMID:18478042, PMID:19337307 ; RO:0002525 CHR:9606chrXp11.3-q12 ; - oboInOwl:hasDbXref UMLS:C4721404 ; oboInOwl:hasExactSynonym "angioma serpiginosum, X-linked" ; + skos:exactMatch UMLS:C4721404 ; biolink:category biolink:Disease . OMIM:300653 a owl:Class ; @@ -414672,9 +431196,9 @@ OMIM:300653 a owl:Class ; PMID:7679780, PMID:8035953, PMID:9512313 ; - oboInOwl:hasDbXref UMLS:C1970848 ; oboInOwl:hasExactSynonym "pgk1 deficiency", "phosphoglycerate kinase 1 deficiency" ; + skos:exactMatch UMLS:C1970848 ; biolink:category biolink:Disease . OMIM:300659 a owl:Class ; @@ -414682,12 +431206,12 @@ OMIM:300659 a owl:Class ; IAO:0000142 PMID:17668385, PMID:19377476, PMID:7943039 ; - oboInOwl:hasDbXref UMLS:C1970841 ; oboInOwl:hasExactSynonym "XLID93", "intellectual developmental disorder, X-linked 93", "mental retardation, X-linked 93", "mental retardation, x-linked, with macrocephaly" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1970841 ; biolink:category biolink:Disease . OMIM:300661 a owl:Class ; @@ -414715,23 +431239,24 @@ OMIM:300661 a owl:Class ; PMID:7593598, PMID:8253776, PMID:8702702 ; - oboInOwl:hasDbXref UMLS:C1970827 ; oboInOwl:hasExactSynonym "gout, prps-related", "phosphoribosylpyrophosphate synthetase superactivity", "prps1 superactivity" ; + skos:exactMatch UMLS:C1970827 ; biolink:category biolink:Disease . OMIM:300670 a owl:Class ; rdfs:label "SPANXD" ; IAO:0000142 PMID:12758128, PMID:17012309 ; - oboInOwl:hasDbXref UMLS:C1422570 ; oboInOwl:hasExactSynonym "SPANXD", "spanx family, member d", "spanx family, member e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64648 ; - skos:exactMatch HGNC_symbol:SPANXD ; + skos:exactMatch UMLS:C1422570, + HGNC:14332, + HGNC_symbol:SPANXD ; biolink:category biolink:Gene . OMIM:300672 a owl:Class ; @@ -414753,16 +431278,16 @@ OMIM:300672 a owl:Class ; PMID:20602487, PMID:21293276, PMID:22872100 ; - oboInOwl:hasDbXref UMLS:C4750718, - ORPHA:1934, - ORPHA:3095, - ORPHA:3451, - ORPHA:505652 ; oboInOwl:hasExactSynonym "DEE2", "developmental and epileptic encephalopathy 2", "epileptic encephalopathy, early infantile, 2", "infantile spasm syndrome, X-linked 2" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4750718, + ORPHA:1934, + ORPHA:3095, + ORPHA:3451, + ORPHA:505652 ; biolink:category biolink:Disease . OMIM:300676 a owl:Class ; @@ -414771,11 +431296,11 @@ OMIM:300676 a owl:Class ; PMID:19377476, PMID:22957832, PMID:9805132 ; - oboInOwl:hasDbXref UMLS:C1970822 ; oboInOwl:hasExactSynonym "MRXS14", "intellectual developmental disorder, x-linked, syndromic 14", "mental retardation, x-linked, syndromic 14" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1970822 ; biolink:category biolink:Disease . OMIM:300695 a owl:Class ; @@ -414783,10 +431308,10 @@ OMIM:300695 a owl:Class ; IAO:0000142 PMID:18179901, PMID:19181672, PMID:8619529 ; - oboInOwl:hasDbXref UMLS:C2678061 ; oboInOwl:hasExactSynonym "SPM", "scapuloperoneal myopathy, X-linked dominant", "scapuloperoneal myopathy, fhl1-related" ; + skos:exactMatch UMLS:C2678061 ; biolink:category biolink:Disease . OMIM:300699 a owl:Class ; @@ -414797,14 +431322,14 @@ OMIM:300699 a owl:Class ; PMID:19449417, PMID:22124977, PMID:24721225 ; - oboInOwl:hasDbXref UMLS:C2678051, - ORPHA:364028 ; oboInOwl:hasExactSynonym "MRXSW", "intellectual developmental disorder, x-linked, syndromic, wu iia", "mental retardation, X-linked 94", "mental retardation, x-linked, syndromic 29" ; rdfs:subClassOf OMIMPS:309510, OMIMPS:309530 ; + skos:exactMatch UMLS:C2678051, + ORPHA:364028 ; biolink:category biolink:Disease . OMIM:300700 a owl:Class ; @@ -414820,10 +431345,10 @@ OMIM:300700 a owl:Class ; PMID:7726174, PMID:8599367 ; RO:0002525 CHR:9606chrXq24-q26 ; - oboInOwl:hasDbXref UMLS:C1845068 ; oboInOwl:hasExactSynonym "ADFN", "albinism-deafness syndrome", "alds" ; + skos:exactMatch UMLS:C1845068 ; biolink:category biolink:Disease . OMIM:300703 a owl:Class ; @@ -414832,9 +431357,9 @@ OMIM:300703 a owl:Class ; PMID:18241076, PMID:8687195 ; RO:0002525 CHR:9606chrXq25-q27.1 ; - oboInOwl:hasDbXref UMLS:C2678048 ; oboInOwl:hasExactSynonym "SCAX5", "spinocerebellar ataxia, X-linked 5" ; + skos:exactMatch UMLS:C2678048 ; biolink:category biolink:Disease . OMIM:300704 a owl:Class ; @@ -414842,9 +431367,9 @@ OMIM:300704 a owl:Class ; IAO:0000142 PMID:18264097, PMID:18264098 ; RO:0002525 CHR:9606chrXp11.22 ; - oboInOwl:hasDbXref UMLS:C2678047 ; oboInOwl:hasExactSynonym "HPCX2", "prostate cancer, hereditary, X-linked 2" ; + skos:exactMatch UMLS:C2678047 ; biolink:category biolink:Disease . OMIM:300710 a owl:Class ; @@ -414857,10 +431382,10 @@ OMIM:300710 a owl:Class ; PMID:9620288 ; RO:0002525 CHR:9606chrXq11-q12 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C2678038 ; oboInOwl:hasExactSynonym "AGA2", "alopecia, androgenetic, 2" ; rdfs:subClassOf OMIMPS:203655 ; + skos:exactMatch UMLS:C2678038 ; biolink:category biolink:Disease . OMIM:300711 a owl:Class ; @@ -414868,18 +431393,18 @@ OMIM:300711 a owl:Class ; IAO:0000142 PMID:18308288 ; RO:0002525 CHR:9606chrXq23 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C2678037 ; oboInOwl:hasExactSynonym "IHPS4", "pyloric stenosis, infantile hypertrophic, 4" ; rdfs:subClassOf OMIMPS:179010 ; + skos:exactMatch UMLS:C2678037 ; biolink:category biolink:Disease . OMIM:300712 a owl:Class ; rdfs:label "craniofacioskeletal syndrome" ; IAO:0000142 PMID:17853486 ; RO:0002525 CHR:9606chrXq26-q27 ; - oboInOwl:hasDbXref UMLS:C2678036 ; oboInOwl:hasExactSynonym "craniofacioskeletal syndrome" ; + skos:exactMatch UMLS:C2678036 ; biolink:category biolink:Disease . OMIM:300716 a owl:Class ; @@ -414887,44 +431412,46 @@ OMIM:300716 a owl:Class ; IAO:0000142 PMID:18455129, PMID:23871722 ; RO:0002525 CHR:9606chrChr.X ; - oboInOwl:hasDbXref UMLS:C2678034, - ORPHA:777 ; oboInOwl:hasExactSynonym "XLID95", "intellectual developmental disorder, X-linked 95", "mental retardation, X-linked 95" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C2678034, + ORPHA:777 ; biolink:category biolink:Disease . OMIM:300719 a owl:Class ; rdfs:label "deafness, cataract, retinitis pigmentosa, and sperm abnormalities" ; IAO:0000142 PMID:17431906 ; RO:0002525 CHR:9606chrChr.X ; - oboInOwl:hasDbXref UMLS:C2678011 ; oboInOwl:hasExactSynonym "deafness, cataract, retinitis pigmentosa, and sperm abnormalities" ; + skos:exactMatch UMLS:C2678011 ; biolink:category biolink:Disease . OMIM:300742 a owl:Class ; rdfs:label "XAGE1A" ; IAO:0000142 PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C2678009 ; oboInOwl:hasExactSynonym "XAGE1A", "x antigen family, member 1a", "xage1b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653220 ; - skos:exactMatch HGNC_symbol:XAGE1A ; + skos:exactMatch UMLS:C2678009, + HGNC:4111, + HGNC_symbol:XAGE1A ; biolink:category biolink:Gene . OMIM:300748 a owl:Class ; rdfs:label "GPR82" ; IAO:0000142 PMID:11574155, PMID:19165920 ; - oboInOwl:hasDbXref UMLS:C1415264 ; oboInOwl:hasExactSynonym "GPR82", "g protein-coupled receptor 82" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27197 ; - skos:exactMatch HGNC_symbol:GPR82 ; + skos:exactMatch UMLS:C1415264, + HGNC:4533, + HGNC_symbol:GPR82 ; biolink:category biolink:Gene . OMIM:300750 a owl:Class ; @@ -414935,10 +431462,10 @@ OMIM:300750 a owl:Class ; PMID:8649538, PMID:9266155 ; RO:0002525 CHR:9606chrXq24-q25 ; - oboInOwl:hasDbXref UMLS:C2677897 ; oboInOwl:hasExactSynonym "SPG34", "spastic paraplegia 34, X-linked" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2677897 ; biolink:category biolink:Disease . OMIM:300752 a owl:Class ; @@ -414946,42 +431473,43 @@ OMIM:300752 a owl:Class ; IAO:0000142 PMID:18760763, PMID:23263862, PMID:25615817 ; - oboInOwl:hasDbXref UMLS:C2677889 ; oboInOwl:hasExactSynonym "XLEPP", "erythrohepatic protoporphyria, X-linked", "protoporphyria, erythropoietic, X-linked", "protoporphyria, erythropoietic, X-linked dominant" ; rdfs:subClassOf OMIMPS:177000 ; + skos:exactMatch UMLS:C2677889 ; biolink:category biolink:Disease . OMIM:300756 a owl:Class ; rdfs:label "alzheimer disease 16" ; IAO:0000142 PMID:19136949 ; RO:0002525 CHR:9606chrXq21.3 ; - oboInOwl:hasDbXref UMLS:C2677888 ; oboInOwl:hasExactSynonym "AD16", "alzheimer disease 16" ; + skos:exactMatch UMLS:C2677888 ; biolink:category biolink:Disease . OMIM:300758 a owl:Class ; rdfs:label "hypospadias 2, X-linked" ; IAO:0000142 PMID:17086185 ; - oboInOwl:hasDbXref UMLS:C2677879 ; oboInOwl:hasExactSynonym "HYSP2", "hypospadias 2, X-linked" ; rdfs:subClassOf OMIMPS:300633 ; + skos:exactMatch UMLS:C2677879 ; biolink:category biolink:Disease . OMIM:300768 a owl:Class ; rdfs:label "CYLC1" ; IAO:0000142 PMID:3308904, PMID:8354692 ; - oboInOwl:hasDbXref UMLS:C1413848 ; oboInOwl:hasExactSynonym "CYLC1", "cylicin 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1538 ; - skos:exactMatch HGNC_symbol:CYLC1 ; + skos:exactMatch UMLS:C1413848, + HGNC:2582, + HGNC_symbol:CYLC1 ; biolink:category biolink:Gene . OMIM:300770 a owl:Class ; @@ -414989,13 +431517,13 @@ OMIM:300770 a owl:Class ; IAO:0000142 PMID:18955567, PMID:18955570, PMID:25274301 ; - oboInOwl:hasDbXref UMLS:C2677877 ; oboInOwl:hasExactSynonym "SMDP4", "csf2ra deficiency", "pap due to csf2ra deficiency", "pulmonary alveolar proteinosis, congenital, 4", "surfactant metabolism dysfunction, pulmonary, 4" ; rdfs:subClassOf OMIMPS:265120 ; + skos:exactMatch UMLS:C2677877 ; biolink:category biolink:Disease . OMIM:300778 a owl:Class ; @@ -415003,22 +431531,22 @@ OMIM:300778 a owl:Class ; IAO:0000142 PMID:11024418, PMID:1621784 ; RO:0002525 CHR:9606chrXp22.3 ; - oboInOwl:hasDbXref UMLS:C2749050, - ORPHA:98955 ; oboInOwl:hasExactSynonym "LECD", "band-shaped and whorled microcystic corneal epithelial dystrophy", "corneal dystrophy, lisch epithelial", "lisch epithelial corneal dystrophy" ; + skos:exactMatch UMLS:C2749050, + ORPHA:98955 ; biolink:category biolink:Disease . OMIM:300779 a owl:Class ; rdfs:label "corneal dystrophy, endothelial, X-linked" ; IAO:0000142 PMID:16490493 ; RO:0002525 CHR:9606chrXq25 ; - oboInOwl:hasDbXref UMLS:C2749049 ; oboInOwl:hasExactSynonym "XECD", "corneal dystrophy, endothelial, X-linked", "endothelial corneal dystrophy, X-linked" ; + skos:exactMatch UMLS:C2749049 ; biolink:category biolink:Disease . OMIM:300799 a owl:Class ; @@ -415028,23 +431556,23 @@ OMIM:300799 a owl:Class ; PMID:26000327, PMID:28687527, PMID:29681091 ; - oboInOwl:hasDbXref UMLS:C3275406, - ORPHA:163953, - ORPHA:776 ; oboInOwl:hasExactSynonym "MRXSR", "intellectual developmental disorder, x-linked, syndromic, raymond iia", "mental retardation, x-linked, syndromic, raymond iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C3275406, + ORPHA:163953, + ORPHA:776 ; biolink:category biolink:Disease . OMIM:300802 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 96" ; IAO:0000142 PMID:19377476 ; - oboInOwl:hasDbXref UMLS:C3275408 ; oboInOwl:hasExactSynonym "XLID96", "intellectual developmental disorder, X-linked 96", "mental retardation, X-linked 96" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C3275408 ; biolink:category biolink:Disease . OMIM:300803 a owl:Class ; @@ -415052,13 +431580,13 @@ OMIM:300803 a owl:Class ; IAO:0000142 PMID:10398247, PMID:19377476, PMID:27993705 ; - oboInOwl:hasDbXref UMLS:C2749020 ; oboInOwl:hasExactSynonym "XLID97", "intellectual developmental disorder, X-linked 97", "mental retardation, X-linked 65", "mental retardation, X-linked 97", "mrxz" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C2749020 ; biolink:category biolink:Disease . OMIM:300809 a owl:Class ; @@ -415066,9 +431594,9 @@ OMIM:300809 a owl:Class ; IAO:0000142 PMID:18320046, PMID:19329491 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C2749008 ; oboInOwl:hasExactSynonym "SLEB15", "systemic lupus erythematosus, susceptibility to, 15" ; + skos:exactMatch UMLS:C2749008 ; biolink:category biolink:Disease . OMIM:300818 a owl:Class ; @@ -415103,11 +431631,11 @@ OMIM:300818 a owl:Class ; PMID:9019395, PMID:9238050, PMID:9372059 ; - oboInOwl:hasDbXref UMLS:C3806670, - ORPHA:447 ; oboInOwl:hasExactSynonym "PNH1", "paroxysmal nocturnal hemoglobinuria 1" ; rdfs:subClassOf OMIMPS:300818 ; + skos:exactMatch UMLS:C3806670, + ORPHA:447 ; biolink:category biolink:Disease . OMIM:300825 a owl:Class ; @@ -415115,12 +431643,13 @@ OMIM:300825 a owl:Class ; IAO:0000142 PMID:12376095, PMID:7503932, PMID:8350924 ; - oboInOwl:hasDbXref UMLS:C1419292 ; oboInOwl:hasExactSynonym "RBBP7", "retinoblastoma-binding protein 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5931 ; - skos:exactMatch HGNC_symbol:RBBP7 ; + skos:exactMatch UMLS:C1419292, + HGNC:9890, + HGNC_symbol:RBBP7 ; biolink:category biolink:Gene . OMIM:300826 a owl:Class ; @@ -415144,16 +431673,17 @@ OMIM:300826 a owl:Class ; PMID:9305759 ; RO:0002525 CHR:9606chrXq25 ; RO:0003303 OMIM:301022 ; - oboInOwl:hasDbXref UMLS:C1420449, - UMLS:C4015968, - UMLS:C5193008, - UMLS:C5393308 ; oboInOwl:hasExactSynonym "STAG2", "cohesin subunit sa2", "stromal antigen 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10735 ; - skos:exactMatch HGNC_symbol:STAG2 ; + skos:exactMatch UMLS:C1420449, + UMLS:C4015968, + UMLS:C5193008, + UMLS:C5393308, + HGNC:11355, + HGNC_symbol:STAG2 ; biolink:category biolink:Gene . OMIM:300827 a owl:Class ; @@ -415164,19 +431694,20 @@ OMIM:300827 a owl:Class ; PMID:9473496 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:309630 ; - oboInOwl:hasDbXref UMLS:C1414600 ; oboInOwl:hasExactSynonym "FGF16", "fibroblast growth factor 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8823 ; - skos:exactMatch HGNC_symbol:FGF16 ; + skos:exactMatch UMLS:C1414600, + HGNC:3672, + HGNC_symbol:FGF16 ; biolink:category biolink:Gene . OMIM:300829 a owl:Class ; rdfs:label "cardiomyopathy, fatal fetal, due to myocardial calcification" ; IAO:0000142 PMID:11424141 ; - oboInOwl:hasDbXref UMLS:C1853577 ; oboInOwl:hasExactSynonym "cardiomyopathy, fatal fetal, due to myocardial calcification" ; + skos:exactMatch UMLS:C1853577 ; biolink:category biolink:Disease . OMIM:300830 a owl:Class ; @@ -415193,11 +431724,11 @@ OMIM:300830 a owl:Class ; PMID:25131214, PMID:27007844, PMID:8655659 ; - oboInOwl:hasDbXref UMLS:C0795888 ; oboInOwl:hasExactSynonym "AUTSX4", "autism, susceptibility to, X-linked 4", "chromosome xp22 deletion syndrome" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C0795888 ; biolink:category biolink:Disease . OMIM:300831 a owl:Class ; @@ -415205,11 +431736,11 @@ OMIM:300831 a owl:Class ; IAO:0000142 PMID:19377476, PMID:19842190, PMID:21129721 ; - oboInOwl:hasDbXref UMLS:C3151781, - ORPHA:251383 ; oboInOwl:hasExactSynonym "CKS", "ck syndrome", "mental retardation, x-linked, with thin body habitus and cortical malformation" ; + skos:exactMatch UMLS:C3151781, + ORPHA:251383 ; biolink:category biolink:Disease . OMIM:300842 a owl:Class ; @@ -415228,13 +431759,13 @@ OMIM:300842 a owl:Class ; PMID:7931427, PMID:8004674, PMID:871435 ; - oboInOwl:hasDbXref UMLS:C0398568, - UMLS:C3151853 ; oboInOwl:hasExactSynonym "MCLDS", "mcleod phenotype", "mcleod syndrome", "mcleod syndrome with chronic granulomatous disease", "neuroacanthocytosis, mcleod iia" ; + skos:exactMatch UMLS:C0398568, + UMLS:C3151853 ; biolink:category biolink:Disease . OMIM:300843 a owl:Class ; @@ -415246,10 +431777,10 @@ OMIM:300843 a owl:Class ; PMID:21357393, PMID:3264103 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C3159311 ; oboInOwl:hasExactSynonym "BED", "bornholm eye disease", "myopia, high, with nonprogressive cone dysfunction" ; + skos:exactMatch UMLS:C3159311 ; biolink:category biolink:Disease . OMIM:300844 a owl:Class ; @@ -415260,11 +431791,11 @@ OMIM:300844 a owl:Class ; PMID:17100996, PMID:6146889, PMID:7943043 ; - oboInOwl:hasDbXref UMLS:C0796225 ; oboInOwl:hasExactSynonym "XLID19", "intellectual developmental disorder, X-linked 19", "mental retardation, X-linked 19" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796225 ; biolink:category biolink:Disease . OMIM:300847 a owl:Class ; @@ -415275,10 +431806,10 @@ OMIM:300847 a owl:Class ; PMID:18698615, PMID:21567917, PMID:8655659 ; - oboInOwl:hasDbXref UMLS:C3275438 ; oboInOwl:hasExactSynonym "AUTSX5", "autism, susceptibility to, X-linked 5" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C3275438 ; biolink:category biolink:Disease . OMIM:300849 a owl:Class ; @@ -415290,23 +431821,23 @@ OMIM:300849 a owl:Class ; PMID:9106537, PMID:9620768, PMID:9668174 ; - oboInOwl:hasDbXref UMLS:C3887939 ; oboInOwl:hasExactSynonym "XLID41", "intellectual developmental disorder, X-linked 41", "mental retardation, X-linked 41", "mental retardation, X-linked 48" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C3887939 ; biolink:category biolink:Disease . OMIM:300850 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 90" ; IAO:0000142 PMID:15185169, PMID:24721225 ; - oboInOwl:hasDbXref UMLS:C3275443 ; oboInOwl:hasExactSynonym "XLID90", "intellectual developmental disorder, X-linked 90", "mental retardation, X-linked 90" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C3275443 ; biolink:category biolink:Disease . OMIM:300851 a owl:Class ; @@ -415316,10 +431847,10 @@ OMIM:300851 a owl:Class ; PMID:22126752, PMID:23871722 ; RO:0002525 CHR:9606chrXp11.3 ; - oboInOwl:hasDbXref UMLS:C1845144 ; oboInOwl:hasExactSynonym "MRX92", "mental retardation, X-linked 92" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C1845144 ; biolink:category biolink:Disease . OMIM:300852 a owl:Class ; @@ -415328,10 +431859,10 @@ OMIM:300852 a owl:Class ; PMID:12746399, PMID:23871722 ; RO:0002525 CHR:9606chrXq24 ; - oboInOwl:hasDbXref UMLS:C3275444 ; oboInOwl:hasExactSynonym "MRX88", "mental retardation, X-linked 88" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C3275444 ; biolink:category biolink:Disease . OMIM:300853 a owl:Class ; @@ -415343,9 +431874,9 @@ OMIM:300853 a owl:Class ; PMID:25504528, PMID:25956530, PMID:31036665 ; - oboInOwl:hasDbXref UMLS:C3275445 ; oboInOwl:hasExactSynonym "XMEN", "immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia" ; + skos:exactMatch UMLS:C3275445 ; biolink:category biolink:Disease . OMIM:300854 a owl:Class ; @@ -415358,9 +431889,9 @@ OMIM:300854 a owl:Class ; PMID:8872474, PMID:8986805, PMID:9393982 ; - oboInOwl:hasDbXref UMLS:C3275446 ; oboInOwl:hasExactSynonym "RCCX1", "renal cell carcinoma, xp11-associated" ; + skos:exactMatch UMLS:C3275446 ; biolink:category biolink:Disease . OMIM:300855 a owl:Class ; @@ -415369,41 +431900,42 @@ OMIM:300855 a owl:Class ; PMID:23020937, PMID:25099252, PMID:26522270 ; - oboInOwl:hasDbXref UMLS:C3275447 ; oboInOwl:hasExactSynonym "OGDNS", "n-terminal acetyltransferase deficiency", "ogden syndrome" ; + skos:exactMatch UMLS:C3275447 ; biolink:category biolink:Disease . OMIM:300856 a owl:Class ; rdfs:label "hypospadias 4, x-linked, susceptibility to" ; IAO:0000142 PMID:21113153 ; RO:0002525 CHR:9606chrXp11.22 ; - oboInOwl:hasDbXref UMLS:C3275458 ; oboInOwl:hasExactSynonym "HYSP4", "hypospadias 4, x-linked, susceptibility to" ; rdfs:subClassOf OMIMPS:300633 ; + skos:exactMatch UMLS:C3275458 ; biolink:category biolink:Disease . OMIM:300857 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia" ; IAO:0000142 PMID:21857683, PMID:24771548 ; - oboInOwl:hasDbXref UMLS:C3275459 ; oboInOwl:hasExactSynonym "ALS15", "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C3275459 ; biolink:category biolink:Disease . OMIM:300858 a owl:Class ; - rdfs:label "mental retardation, x-linked, syndromic 17" ; + rdfs:label "intellectual developmental disorder, x-linked, syndromic 17" ; IAO:0000142 PMID:21744492 ; RO:0002525 CHR:9606chrXp21.1-p11.23 ; - oboInOwl:hasDbXref UMLS:C3275460 ; oboInOwl:hasExactSynonym "MRXS17", + "intellectual developmental disorder, x-linked, syndromic 17", "mental retardation, x-linked, syndromic 17", "mental retardation, x-linked, with alacrima and achalasia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C3275460 ; biolink:category biolink:Disease . OMIM:300860 a owl:Class ; @@ -415411,31 +431943,32 @@ OMIM:300860 a owl:Class ; IAO:0000142 PMID:16909393, PMID:20412111, PMID:21108393 ; - oboInOwl:hasDbXref UMLS:C3275464 ; oboInOwl:hasExactSynonym "MRXSN", "intellectual developmental disorder, x-linked, syndromic, nascimento iia", "mental retardation, x-linked, syndromic 30", "mental retardation, x-linked, syndromic, nascimento iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C3275464 ; biolink:category biolink:Disease . OMIM:300861 a owl:Class ; - rdfs:label "mental retardation, x-linked, syndromic, chudley-schwartz iia" ; + rdfs:label "intellectual developmental disorder, x-linked, syndromic, chudley-schwartz iia" ; IAO:0000142 PMID:10398239 ; RO:0002525 CHR:9606chrXq21.33-q23 ; - oboInOwl:hasDbXref UMLS:C3275471 ; oboInOwl:hasExactSynonym "MRXSCS", + "intellectual developmental disorder, x-linked, syndromic, chudley-schwartz iia", "mental retardation, x-linked, syndromic, chudley-schwartz iia", "mental retardation, x-linked, with seizures, hypogammaglobulinemia, and gait disturbance" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C3275471 ; biolink:category biolink:Disease . OMIM:300863 a owl:Class ; rdfs:label "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" ; IAO:0000142 PMID:16001442, PMID:20181727 ; - oboInOwl:hasDbXref UMLS:C3275476 ; oboInOwl:hasExactSynonym "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" ; + skos:exactMatch UMLS:C3275476 ; biolink:category biolink:Disease . OMIM:300864 a owl:Class ; @@ -415443,8 +431976,8 @@ OMIM:300864 a owl:Class ; IAO:0000142 PMID:15887274, PMID:9832051 ; RO:0002525 CHR:9606chrChr.X ; - oboInOwl:hasDbXref UMLS:C3275487 ; - oboInOwl:hasExactSynonym "cerebral-cerebellar-coloboma syndrome, X-linked" . + oboInOwl:hasExactSynonym "cerebral-cerebellar-coloboma syndrome, X-linked" ; + skos:exactMatch UMLS:C3275487 . OMIM:300867 a owl:Class ; rdfs:label "kabuki syndrome 2" ; @@ -415456,10 +431989,10 @@ OMIM:300867 a owl:Class ; PMID:25972376, PMID:30514738, PMID:7277096 ; - oboInOwl:hasDbXref UMLS:C3275495 ; oboInOwl:hasExactSynonym "KABUK2", "kabuki syndrome 2" ; rdfs:subClassOf OMIMPS:147920 ; + skos:exactMatch UMLS:C3275495 ; biolink:category biolink:Disease . OMIM:300870 a owl:Class ; @@ -415470,10 +432003,10 @@ OMIM:300870 a owl:Class ; PMID:18309175 ; RO:0002525 CHR:9606chrXp22 ; RO:0003303 OMIM:5 ; - oboInOwl:hasDbXref UMLS:C1835857 ; oboInOwl:hasExactSynonym "ANIB5", "aneurysm, intracranial berry, 5" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C1835857 ; biolink:category biolink:Disease . OMIM:300872 a owl:Class ; @@ -415486,11 +432019,11 @@ OMIM:300872 a owl:Class ; PMID:23092983, PMID:25943046, PMID:8655659 ; - oboInOwl:hasDbXref UMLS:C3550875 ; oboInOwl:hasExactSynonym "AUTSX6", "autism, susceptibility to, X-linked 6", "epsilon-trimethyllysine hydroxylase deficiency" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C3550875 ; biolink:category biolink:Disease . OMIM:300880 a owl:Class ; @@ -415499,7 +432032,6 @@ OMIM:300880 a owl:Class ; PMID:21691299, PMID:22890318, PMID:9714768 ; - oboInOwl:hasDbXref UMLS:C1419028 ; oboInOwl:hasExactSynonym "PSMD10", "gankyrin", "p28", @@ -415507,7 +432039,9 @@ OMIM:300880 a owl:Class ; "proteasome 26s subunit, non-atpase, 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5716 ; - skos:exactMatch HGNC_symbol:PSMD10 ; + skos:exactMatch UMLS:C1419028, + HGNC:9555, + HGNC_symbol:PSMD10 ; biolink:category biolink:Gene . OMIM:300882 a owl:Class ; @@ -415519,11 +432053,11 @@ OMIM:300882 a owl:Class ; PMID:24403048, PMID:25209348, PMID:25800122 ; - oboInOwl:hasDbXref UMLS:C3550903, - ORPHA:199 ; oboInOwl:hasExactSynonym "CDLS5", "cornelia lange lange syndrome 5" ; rdfs:subClassOf OMIMPS:122470 ; + skos:exactMatch UMLS:C3550903, + ORPHA:199 ; biolink:category biolink:Disease . OMIM:300884 a owl:Class ; @@ -415535,9 +432069,6 @@ OMIM:300884 a owl:Class ; PMID:25732998, PMID:26138355, PMID:32681751 ; - oboInOwl:hasDbXref UMLS:C3550904, - UMLS:C4317295, - ORPHA:324422 ; oboInOwl:hasExactSynonym "DEE36", "cdg is", "congenital disorder of glycosylation, iia is", @@ -415545,6 +432076,9 @@ OMIM:300884 a owl:Class ; "epileptic encephalopathy, early infantile, 36" ; rdfs:subClassOf OMIMPS:212065, OMIMPS:308350 ; + skos:exactMatch UMLS:C3550904, + UMLS:C4317295, + ORPHA:324422 ; biolink:category biolink:Disease . OMIM:300885 a owl:Class ; @@ -415555,34 +432089,35 @@ OMIM:300885 a owl:Class ; PMID:9752724 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:300887 ; - oboInOwl:hasDbXref UMLS:C1413658 ; oboInOwl:hasExactSynonym "COX7B", "cytochrome c oxidase, subunit 7b", "cytochrome c oxidase, subunit viib" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1349 ; - skos:exactMatch HGNC_symbol:COX7B ; + skos:exactMatch UMLS:C1413658, + HGNC:2291, + HGNC_symbol:COX7B ; biolink:category biolink:Gene . OMIM:300886 a owl:Class ; rdfs:label "intellectual developmental disorder, x-linked, syndromic 32" ; IAO:0000142 PMID:22814392 ; - oboInOwl:hasDbXref UMLS:C3550913 ; oboInOwl:hasExactSynonym "MRXS32", "intellectual developmental disorder, x-linked, syndromic 32", "mental retardation, x-linked, syndromic 32" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C3550913 ; biolink:category biolink:Disease . OMIM:300887 a owl:Class ; rdfs:label "linear skin defects with multiple congenital anomalies 2" ; IAO:0000142 PMID:23122588, PMID:9747372 ; - oboInOwl:hasDbXref UMLS:C3550921 ; oboInOwl:hasExactSynonym "LSDMCA2", "aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies", "linear skin defects with multiple congenital anomalies 2" ; rdfs:subClassOf OMIMPS:309801 ; + skos:exactMatch UMLS:C3550921 ; biolink:category biolink:Disease . OMIM:300888 a owl:Class ; @@ -415593,10 +432128,10 @@ OMIM:300888 a owl:Class ; PMID:27146357, PMID:27310681, PMID:30086211 ; - oboInOwl:hasDbXref UMLS:C3550963, - ORPHA:329235 ; oboInOwl:hasExactSynonym "CHTE", "hypothyroidism, central, with testicular enlargement" ; + skos:exactMatch UMLS:C3550963, + ORPHA:329235 ; biolink:category biolink:Disease . OMIM:300894 a owl:Class ; @@ -415608,20 +432143,18 @@ OMIM:300894 a owl:Class ; PMID:23176820, PMID:23212724, PMID:23435086 ; - oboInOwl:hasDbXref UMLS:C3550973 ; oboInOwl:hasExactSynonym "NBIA5", "beta-propeller protein-associated neurodegeneration", "neurodegeneration with brain iron accumulation 5", "static encephalopathy of childhood with neurodegeneration 1n adulthood" ; rdfs:subClassOf OMIMPS:234200 ; + skos:exactMatch UMLS:C3550973 ; biolink:category biolink:Disease . OMIM:300896 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iim" ; IAO:0000142 PMID:23561849, PMID:24115232 ; - oboInOwl:hasDbXref UMLS:C3806688, - ORPHA:356961 ; oboInOwl:hasExactSynonym "CDG2M", "cdg iim", "congenital disorder of glycosylation, iia iim", @@ -415629,6 +432162,8 @@ OMIM:300896 a owl:Class ; "epileptic encephalopathy, early infantile, 22" ; rdfs:subClassOf OMIMPS:212066, OMIMPS:308350 ; + skos:exactMatch UMLS:C3806688, + ORPHA:356961 ; biolink:category biolink:Disease . OMIM:300899 a owl:Class ; @@ -415636,12 +432171,13 @@ OMIM:300899 a owl:Class ; IAO:0000142 PMID:11401437, PMID:8764829, PMID:8908372 ; - oboInOwl:hasDbXref UMLS:C1419673 ; oboInOwl:hasExactSynonym "RPL39", "ribosomal protein l39" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6170 ; - skos:exactMatch HGNC_symbol:RPL39 ; + skos:exactMatch UMLS:C1419673, + HGNC:10350, + HGNC_symbol:RPL39 ; biolink:category biolink:Gene . OMIM:300904 a owl:Class ; @@ -415656,22 +432192,23 @@ OMIM:300904 a owl:Class ; PMID:9553137 ; RO:0002525 CHR:9606chrXq22.3 ; RO:0003303 OMIM:301035 ; - oboInOwl:hasDbXref UMLS:C1334142 ; oboInOwl:hasExactSynonym "IRS4", "insulin receptor substrate 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8471 ; - skos:exactMatch HGNC_symbol:IRS4 ; + skos:exactMatch UMLS:C1334142, + HGNC:6128, + HGNC_symbol:IRS4 ; biolink:category biolink:Gene . OMIM:300905 a owl:Class ; rdfs:label "charcot-marie-tooth disease, X-linked dominant, 6" ; IAO:0000142 PMID:23297365 ; - oboInOwl:hasDbXref UMLS:C3806702 ; oboInOwl:hasExactSynonym "CMTX6", "charcot-marie-tooth disease, X-linked dominant, 6", "charcot-marie-tooth neuropathy, X-linked dominant, 6" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3806702 ; biolink:category biolink:Disease . OMIM:300906 a owl:Class ; @@ -415683,12 +432220,13 @@ OMIM:300906 a owl:Class ; PMID:7499431 ; RO:0002525 CHR:9606chrXp22.11 ; RO:0003303 OMIM:300905 ; - oboInOwl:hasDbXref UMLS:C1418442 ; oboInOwl:hasExactSynonym "PDK3", "pyruvate dehydrogenase kinase, isoenzyme 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5165 ; - skos:exactMatch HGNC_symbol:PDK3 ; + skos:exactMatch UMLS:C1418442, + HGNC:8811, + HGNC_symbol:PDK3 ; biolink:category biolink:Gene . OMIM:300907 a owl:Class ; @@ -415700,13 +432238,14 @@ OMIM:300907 a owl:Class ; PMID:19284619, PMID:8945520, PMID:9885564 ; - oboInOwl:hasDbXref UMLS:C1413780 ; oboInOwl:hasExactSynonym "CSTF2", "cleavage stimulation factor, 3-prime pre-rna, subunit 2, 64-kd", "cstf64" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1478 ; - skos:exactMatch HGNC_symbol:CSTF2 ; + skos:exactMatch UMLS:C1413780, + HGNC:2484, + HGNC_symbol:CSTF2 ; biolink:category biolink:Gene . OMIM:300908 a owl:Class ; @@ -415744,9 +432283,9 @@ OMIM:300908 a owl:Class ; PMID:9634368, PMID:9674740, PMID:984045 ; - oboInOwl:hasDbXref UMLS:C2720289 ; oboInOwl:hasExactSynonym "anemia, nonspherocytic hemolytic, due to g6pd deficiency", "favism, susceptibility to" ; + skos:exactMatch UMLS:C2720289 ; biolink:category biolink:Disease . OMIM:300909 a owl:Class ; @@ -415760,18 +432299,18 @@ OMIM:300909 a owl:Class ; PMID:21898657, PMID:8689816, PMID:9530537 ; - oboInOwl:hasDbXref UMLS:C3806711 ; oboInOwl:hasExactSynonym "AEACEI", "angioedema induced by ace inhibitors, susceptibility to" ; + skos:exactMatch UMLS:C3806711 ; biolink:category biolink:Disease . OMIM:300910 a owl:Class ; rdfs:label "bone mineral density quantitative trait locus 18" ; IAO:0000142 PMID:24088043 ; - oboInOwl:hasDbXref UMLS:C3806712 ; oboInOwl:hasExactSynonym "BMND18", "bone mineral density quantitative trait locus 18", "osteoporosis and osteoporotic fractures, susceptibility to" ; + skos:exactMatch UMLS:C3806712 ; biolink:category biolink:Disease . OMIM:300912 a owl:Class ; @@ -415782,20 +432321,20 @@ OMIM:300912 a owl:Class ; PMID:26576034, PMID:27358180, PMID:27568816 ; - oboInOwl:hasDbXref UMLS:C3806730 ; oboInOwl:hasExactSynonym "XLID98", "intellectual developmental disorder, X-linked 98", "mental retardation, X-linked 98" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C3806730 ; biolink:category biolink:Disease . OMIM:300914 a owl:Class ; rdfs:label "deafness, X-linked 6" ; IAO:0000142 PMID:23714752 ; - oboInOwl:hasDbXref UMLS:C3806737 ; oboInOwl:hasExactSynonym "DFNX6", "deafness, X-linked 6" ; rdfs:subClassOf OMIMPS:304500 ; + skos:exactMatch UMLS:C3806737 ; biolink:category biolink:Disease . OMIM:300915 a owl:Class ; @@ -415803,57 +432342,59 @@ OMIM:300915 a owl:Class ; IAO:0000142 PMID:24993872, PMID:4998085, PMID:6149829 ; - oboInOwl:hasDbXref UMLS:C3806742 ; oboInOwl:hasExactSynonym "MCOPS13", "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation", "maine microphthalmos", "microphthalmia, syndromic 13" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C3806742 ; biolink:category biolink:Disease . OMIM:300923 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 100" ; IAO:0000142 PMID:24812067 ; - oboInOwl:hasDbXref UMLS:C3890167 ; oboInOwl:hasExactSynonym "XLID100", "intellectual developmental disorder, X-linked 100", "mental retardation, X-linked 100" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C3890167 ; biolink:category biolink:Disease . OMIM:300927 a owl:Class ; rdfs:label "PRDX4" ; IAO:0000142 PMID:26917265, PMID:9388242 ; - oboInOwl:hasDbXref UMLS:C1424792 ; oboInOwl:hasExactSynonym "PRDX4", "antioxidant enzyme 372", "peroxiredoxin 4", "thioredoxin peroxidase-related activator of nfkb and jnk" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10549 ; - skos:exactMatch HGNC_symbol:PRDX4 ; + skos:exactMatch UMLS:C1424792, + HGNC:17169, + HGNC_symbol:PRDX4 ; biolink:category biolink:Gene . OMIM:300928 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 101" ; IAO:0000142 PMID:24115387 ; - oboInOwl:hasDbXref UMLS:C3890168 ; oboInOwl:hasExactSynonym "XLID101", "intellectual developmental disorder, X-linked 101", "mental retardation, X-linked 101" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C3890168 ; biolink:category biolink:Disease . OMIM:300931 a owl:Class ; rdfs:label "PIR" ; IAO:0000142 PMID:9079676 ; - oboInOwl:hasDbXref UMLS:C1538650 ; oboInOwl:hasExactSynonym "PIR", "pirin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8544 ; - skos:exactMatch HGNC_symbol:PIR ; + skos:exactMatch UMLS:C1538650, + HGNC:30048, + HGNC_symbol:PIR ; biolink:category biolink:Gene . OMIM:300932 a owl:Class ; @@ -415876,90 +432417,93 @@ OMIM:300932 a owl:Class ; PMID:6794959, PMID:8530630, PMID:8964852 ; - oboInOwl:hasDbXref UMLS:C4310821 ; oboInOwl:hasExactSynonym "TBGQTL", "thyroxine-binding globulin quantitative trait locus" ; + skos:exactMatch UMLS:C4310821 ; biolink:category biolink:Disease . OMIM:300934 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iy" ; IAO:0000142 PMID:24218363, PMID:26264460 ; - oboInOwl:hasDbXref UMLS:C4012395 ; oboInOwl:hasExactSynonym "CDG1Y", "cdg 1y", "congenital disorder of glycosylation, iia iy" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C4012395 ; biolink:category biolink:Disease . OMIM:300935 a owl:Class ; rdfs:label "PRRG1" ; IAO:0000142 PMID:9256434 ; - oboInOwl:hasDbXref UMLS:C1418961 ; oboInOwl:hasExactSynonym "PRRG1", "proline-rich gamma-carboxyglutamic acid protein 1", "proline-rich gla protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5638 ; - skos:exactMatch HGNC_symbol:PRRG1 ; + skos:exactMatch UMLS:C1418961, + HGNC:9469, + HGNC_symbol:PRRG1 ; biolink:category biolink:Gene . OMIM:300939 a owl:Class ; rdfs:label "TMSB15A" ; IAO:0000142 PMID:17567946, PMID:19296525 ; - oboInOwl:hasDbXref UMLS:C1540031 ; oboInOwl:hasExactSynonym "TMSB15A", "thymosin, beta-15a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11013 ; - skos:exactMatch HGNC_symbol:TMSB15A ; + skos:exactMatch UMLS:C1540031, + HGNC:30744, + HGNC_symbol:TMSB15A ; biolink:category biolink:Gene . OMIM:300943 a owl:Class ; rdfs:label "pituitary adenoma 2, growth hormone-secreting" ; IAO:0000142 PMID:25470569, PMID:25806920 ; - oboInOwl:hasDbXref UMLS:C4012409 ; oboInOwl:hasExactSynonym "PITA2", "acromegaly due to pituitary adenoma 2", "acromegaly, X-linked", "pituitary adenoma 2, growth hormone-secreting" ; rdfs:subClassOf OMIMPS:102200 ; + skos:exactMatch UMLS:C4012409 ; biolink:category biolink:Disease . OMIM:300946 a owl:Class ; rdfs:label "diamond-blackfan anemia 14 with mandibulofacial dysostosis" ; IAO:0000142 PMID:11424144, PMID:24942156 ; - oboInOwl:hasDbXref UMLS:C4225422 ; oboInOwl:hasExactSynonym "DBA14", "diamond-blackfan anemia 14 with mandibulofacial dysostosis" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C4225422 ; biolink:category biolink:Disease . OMIM:300948 a owl:Class ; rdfs:label "PCYT1B" ; IAO:0000142 PMID:10480912, PMID:9593753 ; - oboInOwl:hasDbXref UMLS:C1418397 ; oboInOwl:hasExactSynonym "PCYT1B", "cct-beta", "phosphate cytidylyltransferase 1, choline, beta isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9468 ; - skos:exactMatch HGNC_symbol:PCYT1B ; + skos:exactMatch UMLS:C1418397, + HGNC:8755, + HGNC_symbol:PCYT1B ; biolink:category biolink:Gene . OMIM:300952 a owl:Class ; rdfs:label "linear skin defects with multiple congenital anomalies 3" ; IAO:0000142 PMID:25772934, PMID:26741492 ; - oboInOwl:hasDbXref UMLS:C4225421 ; oboInOwl:hasExactSynonym "LSDMCA3", "linear skin defects with cardiomyopathy and other congenital anomalies", "linear skin defects with multiple congenital anomalies 3" ; rdfs:subClassOf OMIMPS:309801 ; + skos:exactMatch UMLS:C4225421 ; biolink:category biolink:Disease . OMIM:300953 a owl:Class ; @@ -415969,11 +432513,11 @@ OMIM:300953 a owl:Class ; PMID:31130284, PMID:31793730, PMID:31880405 ; - oboInOwl:hasDbXref UMLS:C4225420, - ORPHA:33364 ; oboInOwl:hasExactSynonym "TTD5", "trichothiodystrophy 5, nonphotosensitive" ; rdfs:subClassOf OMIMPS:601675 ; + skos:exactMatch UMLS:C4225420, + ORPHA:33364 ; biolink:category biolink:Disease . OMIM:300957 a owl:Class ; @@ -415981,14 +432525,14 @@ OMIM:300957 a owl:Class ; IAO:0000142 PMID:1605217, PMID:26166480, PMID:8825049 ; - oboInOwl:hasDbXref UMLS:C0796218, - UMLS:C0796242, - ORPHA:457240 ; oboInOwl:hasExactSynonym "XLID12", "intellectual developmental disorder, X-linked 12", "mental retardation, X-linked 12", "mental retardation, X-linked 35" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796218, + UMLS:C0796242, + ORPHA:457240 ; biolink:category biolink:Disease . OMIM:300958 a owl:Class ; @@ -416000,12 +432544,12 @@ OMIM:300958 a owl:Class ; PMID:30817323, PMID:30936465, PMID:31274575 ; - oboInOwl:hasDbXref UMLS:C5393299, - ORPHA:457260 ; oboInOwl:hasExactSynonym "MRXSSB", "intellectual developmental disorder, x-linked, syndromic, snijders blok iia", "mental retardation, X-linked 102, formerly" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C5393299, + ORPHA:457260 ; biolink:category biolink:Disease . OMIM:300960 a owl:Class ; @@ -416018,10 +432562,10 @@ OMIM:300960 a owl:Class ; PMID:23307567, PMID:24459067, PMID:24700572 ; - oboInOwl:hasDbXref UMLS:C4085243 ; oboInOwl:hasExactSynonym "MEND", "male ebp disorder with neurologic defects", "mend syndrome" ; + skos:exactMatch UMLS:C4085243 ; biolink:category biolink:Disease . OMIM:300963 a owl:Class ; @@ -416029,20 +432573,20 @@ OMIM:300963 a owl:Class ; IAO:0000142 PMID:19377476, PMID:21826058, PMID:24916641 ; - oboInOwl:hasDbXref UMLS:C4225419 ; oboInOwl:hasExactSynonym "RTSC2", "ritscher-schinzel syndrome 2" ; rdfs:subClassOf OMIMPS:220210 ; + skos:exactMatch UMLS:C4225419 ; biolink:category biolink:Disease . OMIM:300966 a owl:Class ; rdfs:label "intellectual developmental disorder, x-linked, syndromic 33" ; IAO:0000142 PMID:26637982 ; - oboInOwl:hasDbXref UMLS:C4225418 ; oboInOwl:hasExactSynonym "MRXS33", "intellectual developmental disorder, x-linked, syndromic 33", "mental retardation, x-linked, syndromic 33" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C4225418 ; biolink:category biolink:Disease . OMIM:300967 a owl:Class ; @@ -416050,35 +432594,35 @@ OMIM:300967 a owl:Class ; IAO:0000142 PMID:26571461, PMID:27329731, PMID:27550220 ; - oboInOwl:hasDbXref UMLS:C4225417 ; oboInOwl:hasExactSynonym "MRXS34", "intellectual developmental disorder, x-linked, syndromic 34", "mental retardation, x-linked, syndromic 34", "mental retardation, x-linked, syndromic, mircsof-langouet iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C4225417 ; biolink:category biolink:Disease . OMIM:300968 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 99, syndromic, female-restricted" ; IAO:0000142 PMID:24690944, PMID:26833328 ; - oboInOwl:hasDbXref UMLS:C4225416 ; oboInOwl:hasExactSynonym "MRXS99F", "intellectual developmental disorder, X-linked 99, syndromic, female-restricted", "mental retardation, X-linked 99, syndromic, female-restricted" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C4225416 ; biolink:category biolink:Disease . OMIM:300971 a owl:Class ; rdfs:label "bartter syndrome, iia 5, antenatal, transient" ; IAO:0000142 PMID:27120771, PMID:9630034 ; - oboInOwl:hasDbXref UMLS:C4310820, - ORPHA:112, - ORPHA:93604 ; oboInOwl:hasExactSynonym "BARTS5", "bartter syndrome, iia 5, antenatal, transient" ; rdfs:subClassOf OMIMPS:601678 ; + skos:exactMatch UMLS:C4310820, + ORPHA:112, + ORPHA:93604 ; biolink:category biolink:Disease . OMIM:300972 a owl:Class ; @@ -416089,7 +432633,6 @@ OMIM:300972 a owl:Class ; PMID:32058063, PMID:32216104, PMID:32395412 ; - oboInOwl:hasDbXref UMLS:C4310819 ; oboInOwl:hasExactSynonym "IMD47", "cdg iis", "congenital disorder of glycosylation, iia iis", @@ -416097,6 +432640,7 @@ OMIM:300972 a owl:Class ; "immunodeficiency and hepatopathy with or without neurologic features" ; rdfs:subClassOf OMIMPS:212066, OMIMPS:300755 ; + skos:exactMatch UMLS:C4310819 ; biolink:category biolink:Disease . OMIM:300977 a owl:Class ; @@ -416104,10 +432648,10 @@ OMIM:300977 a owl:Class ; IAO:0000142 PMID:2002488, PMID:20624501, PMID:8487281 ; - oboInOwl:hasDbXref UMLS:C1866985 ; oboInOwl:hasExactSynonym "SHLTS", "early balding, patella luxation, acromicria, and hypogonadism", "scholte syndrome" ; + skos:exactMatch UMLS:C1866985 ; biolink:category biolink:Disease . OMIM:300978 a owl:Class ; @@ -416115,106 +432659,106 @@ OMIM:300978 a owl:Class ; IAO:0000142 PMID:25644381, PMID:25735484, PMID:29728705 ; - oboInOwl:hasDbXref UMLS:C4283894 ; oboInOwl:hasExactSynonym "TOKAS", "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia", "mental retardation, X-linked 61", "tonne-kalscheuer syndrome" ; rdfs:subClassOf OMIMPS:309510, OMIMPS:309530 ; + skos:exactMatch UMLS:C4283894 ; biolink:category biolink:Disease . OMIM:300982 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 103" ; IAO:0000142 PMID:24817631, PMID:25644381 ; - oboInOwl:hasDbXref UMLS:C4310818 ; oboInOwl:hasExactSynonym "XLID103", "intellectual developmental disorder, X-linked 103", "mental retardation, X-linked 103" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C4310818 ; biolink:category biolink:Disease . OMIM:300983 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 104" ; IAO:0000142 PMID:25644381, PMID:29267967 ; - oboInOwl:hasDbXref UMLS:C4310817 ; oboInOwl:hasExactSynonym "XLID104", "intellectual developmental disorder, X-linked 104", "mental retardation, X-linked 104" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C4310817 ; biolink:category biolink:Disease . OMIM:300984 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 105" ; IAO:0000142 PMID:25644381 ; - oboInOwl:hasDbXref UMLS:C4310816 ; oboInOwl:hasExactSynonym "XLID105", "intellectual developmental disorder, X-linked 105", "mental retardation, X-linked 105" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C4310816 ; biolink:category biolink:Disease . OMIM:300985 a owl:Class ; rdfs:label "vas deferens, congenital bilateral aplasia of, X-linked" ; IAO:0000142 PMID:27476656 ; - oboInOwl:hasDbXref UMLS:C4310815 ; oboInOwl:hasExactSynonym "CBAVDX", "vas deferens, congenital bilateral aplasia of, X-linked" ; rdfs:subClassOf OMIMPS:277180 ; + skos:exactMatch UMLS:C4310815 ; biolink:category biolink:Disease . OMIM:300986 a owl:Class ; rdfs:label "intellectual developmental disorder, x-linked, syndromic, bain iia" ; IAO:0000142 PMID:27545675 ; - oboInOwl:hasDbXref UMLS:C4310814 ; oboInOwl:hasExactSynonym "MRXSB", "intellectual developmental disorder, x-linked, syndromic, bain iia", "mental retardation, x-linked, syndromic, bain iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C4310814 ; biolink:category biolink:Disease . OMIM:300988 a owl:Class ; rdfs:label "immunodeficiency 50" ; IAO:0000142 PMID:27405666 ; - oboInOwl:hasDbXref UMLS:C4310812 ; oboInOwl:hasExactSynonym "IMD50", "immunodeficiency 50", "immunodeficiency 50, X-linked recessive" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4310812 ; biolink:category biolink:Disease . OMIM:300990 a owl:Class ; rdfs:label "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" ; IAO:0000142 PMID:27811305, PMID:28089922 ; - oboInOwl:hasDbXref UMLS:C4310810, - ORPHA:86818 ; oboInOwl:hasExactSynonym "MFHIEN", "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" ; + skos:exactMatch UMLS:C4310810, + ORPHA:86818 ; biolink:category biolink:Disease . OMIM:300991 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 36, X-linked" ; IAO:0000142 PMID:24421334, PMID:28041644 ; - oboInOwl:hasDbXref UMLS:C4478372 ; oboInOwl:hasExactSynonym "CILD36", "ciliary dyskinesia, primary, 36, X-linked", "ciliary dyskinesia, primary, 36, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4478372 ; biolink:category biolink:Disease . OMIM:300997 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 106" ; IAO:0000142 PMID:28302723, PMID:28584052 ; - oboInOwl:hasDbXref UMLS:C4478379 ; oboInOwl:hasExactSynonym "XLID106", "intellectual developmental disorder, X-linked 106", "mental retardation, X-linked 106" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C4478379 ; biolink:category biolink:Disease . OMIM:301000 a owl:Class ; @@ -416309,8 +432853,6 @@ OMIM:301000 a owl:Class ; PMID:8931701, PMID:9445409, PMID:9445416 ; - oboInOwl:hasDbXref UMLS:C0043194, - ORPHA:906 ; oboInOwl:hasExactSynonym "Aldrich syndrome", "WAS", "eczema-thrombocytopenia-immunodeficiency syndrome", @@ -416318,16 +432860,18 @@ OMIM:301000 a owl:Class ; "wiskott-aldrich syndrome", "wiskott-aldrich syndrome 1" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C0043194, + ORPHA:906 ; biolink:category biolink:Disease . OMIM:301006 a owl:Class ; rdfs:label "galloway-mowat syndrome 2, X-linked" ; IAO:0000142 PMID:12693786, PMID:28805828 ; - oboInOwl:hasDbXref UMLS:C4538784 ; oboInOwl:hasExactSynonym "GAMOS2", "galloway-mowat syndrome 2, X-linked" ; rdfs:subClassOf OMIMPS:251300 ; + skos:exactMatch UMLS:C4538784 ; biolink:category biolink:Disease . OMIM:301008 a owl:Class ; @@ -416337,55 +432881,56 @@ OMIM:301008 a owl:Class ; PMID:25644381, PMID:25754917, PMID:28098945 ; - oboInOwl:hasDbXref UMLS:C4538788 ; oboInOwl:hasExactSynonym "MRXSHG", "intellectual developmental disorder, x-linked, syndromic, houge iia", "mental retardation, x-linked, syndromic, houge iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C4538788 ; biolink:category biolink:Disease . OMIM:301010 a owl:Class ; rdfs:label "myopia 26, x-linked, female-limited" ; IAO:0000142 PMID:27829781 ; - oboInOwl:hasDbXref UMLS:C4538795 ; oboInOwl:hasExactSynonym "MYP26", "myopia 26, x-linked, female-limited" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C4538795 ; biolink:category biolink:Disease . OMIM:301013 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 107" ; IAO:0000142 PMID:29374277 ; - oboInOwl:hasDbXref UMLS:C4692652 ; oboInOwl:hasExactSynonym "XLID107", "intellectual developmental disorder, X-linked 107", "mental retardation, X-linked 107" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C4692652 ; biolink:category biolink:Disease . OMIM:301014 a owl:Class ; rdfs:label "osteogenesis imperfecta, iia 19" ; IAO:0000142 PMID:27380894 ; - oboInOwl:hasDbXref UMLS:C4746956 ; oboInOwl:hasExactSynonym "OI19", "osteogenesis imperfecta, iia 19" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C4746956 ; biolink:category biolink:Disease . OMIM:301015 a owl:Class ; rdfs:label "hemolytic anemia, congenital, X-linked" ; IAO:0000142 PMID:26944472 ; - oboInOwl:hasDbXref UMLS:C4746970 ; - oboInOwl:hasExactSynonym "hemolytic anemia, congenital, X-linked" ; + oboInOwl:hasExactSynonym "HACXL", + "hemolytic anemia, congenital, X-linked" ; + skos:exactMatch UMLS:C4746970 ; biolink:category biolink:Disease . OMIM:301018 a owl:Class ; rdfs:label "deafness, X-linked 7" ; IAO:0000142 PMID:28096187 ; - oboInOwl:hasDbXref UMLS:C4746975 ; oboInOwl:hasExactSynonym "DFNX7", "deafness, X-linked 7" ; rdfs:subClassOf OMIMPS:304500 ; + skos:exactMatch UMLS:C4746975 ; biolink:category biolink:Disease . OMIM:301020 a owl:Class ; @@ -416394,10 +432939,10 @@ OMIM:301020 a owl:Class ; PMID:17262856, PMID:19185523, PMID:21596602 ; - oboInOwl:hasDbXref UMLS:C4746984 ; oboInOwl:hasExactSynonym "MC1DN12", "mitochondrial complex 1 deficiency, nuclear iia 12" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4746984 ; biolink:category biolink:Disease . OMIM:301022 a owl:Class ; @@ -416407,70 +432952,70 @@ OMIM:301022 a owl:Class ; PMID:30158690, PMID:30447054, PMID:30765867 ; - oboInOwl:hasDbXref UMLS:C5193008 ; oboInOwl:hasExactSynonym "MKMS", "mullegama-klein-martinez syndrome", "neurodevelopmental disorder, x-linked, with craniofacial abnormalities" ; + skos:exactMatch UMLS:C5193008 ; biolink:category biolink:Disease . OMIM:301024 a owl:Class ; rdfs:label "intellectual developmental disorder, X-linked 108" ; IAO:0000142 PMID:30335141 ; - oboInOwl:hasDbXref UMLS:C5193009 ; oboInOwl:hasExactSynonym "MRX108", "intellectual developmental disorder, X-linked 108", "mental retardation, X-linked 108" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C5193009 ; biolink:category biolink:Disease . OMIM:301025 a owl:Class ; rdfs:label "paganini-miozzo syndrome" ; IAO:0000142 PMID:30471091 ; - oboInOwl:hasDbXref UMLS:C5193010 ; oboInOwl:hasExactSynonym "MRXSPM", "mental retardation, x-linked, syndromic, paganini-miozzo iia", "paganini-miozzo syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C5193010 ; biolink:category biolink:Disease . OMIM:301028 a owl:Class ; rdfs:label "nephrotic syndrome, iia 20" ; IAO:0000142 PMID:30661770 ; - oboInOwl:hasDbXref UMLS:C5193011 ; oboInOwl:hasExactSynonym "NPHS20", "nephrotic syndrome, iia 20" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C5193011 ; biolink:category biolink:Disease . OMIM:301029 a owl:Class ; rdfs:label "shukla-vernon syndrome" ; IAO:0000142 PMID:24123876, PMID:30941876 ; - oboInOwl:hasDbXref UMLS:C5193146 ; oboInOwl:hasExactSynonym "SHUVER", "shukla-vernon syndrome" ; + skos:exactMatch UMLS:C5193146 ; biolink:category biolink:Disease . OMIM:301030 a owl:Class ; rdfs:label "van esch-o'driscoll syndrome" ; IAO:0000142 PMID:16053905, PMID:31006512 ; - oboInOwl:hasDbXref UMLS:C5193012 ; oboInOwl:hasExactSynonym "VEODS", "mental retardation, x-linked, syndromic, van esch-o'driscoll iia", "van esch-o'driscoll syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C5193012 ; biolink:category biolink:Disease . OMIM:301032 a owl:Class ; rdfs:label "basilicata-akhtar syndrome" ; IAO:0000142 PMID:30224647 ; - oboInOwl:hasDbXref UMLS:C5231394 ; oboInOwl:hasExactSynonym "MRXSBA", "basilicata-akhtar syndrome", "mental retardation, x-linked, syndromic 36", "mental retardation, x-linked, syndromic, basilicata-akhtar iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C5231394 ; biolink:category biolink:Disease . OMIM:301033 a owl:Class ; @@ -416494,11 +433039,11 @@ OMIM:301039 a owl:Class ; rdfs:label "intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia" ; IAO:0000142 PMID:26358559, PMID:31587868 ; - oboInOwl:hasDbXref UMLS:C5393302 ; oboInOwl:hasExactSynonym "MRXSHD", "intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia", "mental retardation, x-linked, with marfanoid habitus, 2" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C5393302 ; biolink:category biolink:Disease . OMIM:301040 a owl:Class ; @@ -416535,21 +433080,21 @@ OMIM:301040 a owl:Class ; PMID:8967323, PMID:9363663, PMID:9598720 ; - oboInOwl:hasDbXref UMLS:C1845055 ; oboInOwl:hasExactSynonym "ATRX", "alpha-thalassemia/mental retardation syndrome, X-linked", "alpha-thalassemia/mental retardation syndrome, nondeletion iia", "atr, nondeletion iia", "atr-x syndrome" ; + skos:exactMatch UMLS:C1845055 ; biolink:category biolink:Disease . OMIM:301041 a owl:Class ; rdfs:label "wieacker-wolff syndrome, female-restricted" ; IAO:0000142 PMID:31206972 ; - oboInOwl:hasDbXref UMLS:C5393303 ; oboInOwl:hasExactSynonym "WRWFFR", "wieacker-wolff syndrome, female-restricted" ; rdfs:subClassOf OMIMPS:314580 ; + skos:exactMatch UMLS:C5393303 ; biolink:category biolink:Disease . OMIM:301044 a owl:Class ; @@ -416560,11 +433105,11 @@ OMIM:301044 a owl:Class ; PMID:26752331, PMID:28166369, PMID:31334757 ; - oboInOwl:hasDbXref UMLS:C5393312 ; oboInOwl:hasExactSynonym "DEE85", "developmental and epileptic encephalopathy 85 with or without midline brain defects", "epileptic encephalopathy, early infantile, 85, with or without midline brain defects" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5393312 ; biolink:category biolink:Disease . OMIM:301050 a owl:Class ; @@ -416661,23 +433206,23 @@ OMIM:301050 a owl:Class ; PMID:9475100, PMID:9563792, PMID:9734596 ; - oboInOwl:hasDbXref UMLS:C4746986 ; oboInOwl:hasExactSynonym "ATS1", "alport syndrome 1, X-linked", "ats", "nephropathy and deafness, X-linked" ; rdfs:subClassOf OMIMPS:301050 ; + skos:exactMatch UMLS:C4746986 ; biolink:category biolink:Disease . OMIM:301051 a owl:Class ; rdfs:label "immunodeficiency 74, covid19-related, X-linked" ; IAO:0000142 PMID:32706371 ; - oboInOwl:hasDbXref UMLS:C5435745 ; oboInOwl:hasExactSynonym "IMD74", "immunodeficiency 74, covid19-related, X-linked", "respiratory insufficiency due to sars-cov-2 viral infection", "tlr7 deficiency" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5435745 ; biolink:category biolink:Disease . OMIM:301052 a owl:Class ; @@ -416687,9 +433232,9 @@ OMIM:301052 a owl:Class ; PMID:29450643, PMID:8833911, PMID:9233593 ; - oboInOwl:hasDbXref UMLS:C5393318 ; oboInOwl:hasExactSynonym "coumarin sensitivity, X-linked", "warfarin sensitivity, X-linked" ; + skos:exactMatch UMLS:C5393318 ; biolink:category biolink:Disease . OMIM:301054 a owl:Class ; @@ -416699,9 +433244,9 @@ OMIM:301054 a owl:Class ; PMID:34077652, PMID:34077653, PMID:34077654 ; - oboInOwl:hasDbXref UMLS:C5435753 ; oboInOwl:hasExactSynonym "VEXAS", "vexas syndrome" ; + skos:exactMatch UMLS:C5435753 ; biolink:category biolink:Disease . OMIM:301056 a owl:Class ; @@ -416752,23 +433297,39 @@ OMIM:301074 a owl:Class ; oboInOwl:hasExactSynonym "AIFBL2", "autoinflammatory syndrome, familial, x-linked, behcet-like 2", "deficiency 1n elf4, X-linked" ; + rdfs:subClassOf OMIMPS:616744 ; + biolink:category biolink:Disease . + +OMIM:301075 a owl:Class ; + rdfs:label "myopathy, distal, 7, adult-onset, X-linked" ; + oboInOwl:hasExactSynonym "MPD7", + "myopathy, distal, 7, adult-onset, X-linked" ; + rdfs:subClassOf OMIMPS:160500 ; + biolink:category biolink:Disease . + +OMIM:301076 a owl:Class ; + rdfs:label "intellectual developmental disorder, x-linked, syndromic, pilorge iia" ; + oboInOwl:hasExactSynonym "MRXSP", + "intellectual developmental disorder, x-linked, syndromic, pilorge iia" ; + rdfs:subClassOf OMIMPS:309510 ; biolink:category biolink:Disease . OMIM:301077 a owl:Class ; rdfs:label "spermatogenic failure, x-linked, 4" ; oboInOwl:hasExactSynonym "SPGFX4", "spermatogenic failure, x-linked, 4" ; + rdfs:subClassOf OMIMPS:258150 ; biolink:category biolink:Disease . OMIM:301201 a owl:Class ; rdfs:label "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2" ; IAO:0000142 PMID:1358807 ; RO:0002525 CHR:9606chrXq22-q28 ; - oboInOwl:hasDbXref UMLS:C1845051 ; oboInOwl:hasExactSynonym "amelogenesis imperfecta 3, hypoplastic type, formerly", "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2", "enamel hypoplasia, X-linked" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C1845051 ; biolink:category biolink:Disease . OMIM:301310 a owl:Class ; @@ -416778,9 +433339,9 @@ OMIM:301310 a owl:Class ; PMID:1301172, PMID:1671320, PMID:4045952 ; - oboInOwl:hasDbXref UMLS:C1845028 ; oboInOwl:hasExactSynonym "ASAT", "anemia, sideroblastic, and spinocerebellar ataxia" ; + skos:exactMatch UMLS:C1845028 ; biolink:category biolink:Disease . OMIM:301410 a owl:Class ; @@ -416792,10 +433353,10 @@ OMIM:301410 a owl:Class ; PMID:7004185, PMID:8076409, PMID:8831137 ; - oboInOwl:hasDbXref UMLS:C1845026, - UMLS:C1845027 ; oboInOwl:hasExactSynonym "neural tube defects, X-linked", - "spina bifida, X-linked" . + "spina bifida, X-linked" ; + skos:exactMatch UMLS:C1845026, + UMLS:C1845027 . OMIM:301500 a owl:Class ; rdfs:label "fabry disease" ; @@ -416934,8 +433495,6 @@ OMIM:301500 a owl:Class ; PMID:9116979, PMID:9122231, PMID:9883849 ; - oboInOwl:hasDbXref UMLS:C0002986, - ORPHA:324 ; oboInOwl:hasExactSynonym "alpha-galactosidase a deficiency", "anderson-fabry disease", "angiokeratoma corporis diffusum", @@ -416944,15 +433503,17 @@ OMIM:301500 a owl:Class ; "fabry disease, cardiac variant", "gla deficiency", "hereditary dystopic lipidosis" ; + skos:exactMatch UMLS:C0002986, + ORPHA:324 ; biolink:category biolink:Disease . OMIM:301790 a owl:Class ; rdfs:label "spinocerebellar ataxia, X-linked 3" ; IAO:0000142 PMID:3614654 ; - oboInOwl:hasDbXref UMLS:C1844936 ; oboInOwl:hasExactSynonym "ataxia-deafness syndrome, X-linked", "scax3", - "spinocerebellar ataxia, X-linked 3" . + "spinocerebellar ataxia, X-linked 3" ; + skos:exactMatch UMLS:C1844936 . OMIM:301830 a owl:Class ; rdfs:label "spinal muscular atrophy, X-linked 2" ; @@ -416961,8 +433522,6 @@ OMIM:301830 a owl:Class ; PMID:3341327, PMID:7200838, PMID:8528211 ; - oboInOwl:hasDbXref UMLS:C1844934, - ORPHA:1145 ; oboInOwl:hasExactSynonym "SMAX2", "amc, distal, X-linked", "arthrogryposis multiplex congenita, distal, X-linked", @@ -416970,15 +433529,17 @@ OMIM:301830 a owl:Class ; "spinal muscular atrophy, X-linked 2", "spinal muscular atrophy, X-linked lethal infantile", "spinal muscular atrophy, infantile X-linked" ; + skos:exactMatch UMLS:C1844934, + ORPHA:1145 ; biolink:category biolink:Disease . OMIM:301840 a owl:Class ; rdfs:label "spinocerebellar ataxia, X-linked 4" ; IAO:0000142 PMID:3470628 ; - oboInOwl:hasDbXref UMLS:C1844933 ; oboInOwl:hasExactSynonym "ataxia-dementia syndrome, X-linked", "scax4", - "spinocerebellar ataxia, X-linked 4" . + "spinocerebellar ataxia, X-linked 4" ; + skos:exactMatch UMLS:C1844933 . OMIM:301900 a owl:Class ; rdfs:label "borjeson-forssman-lehmann syndrome" ; @@ -417001,14 +433562,14 @@ OMIM:301900 a owl:Class ; PMID:564968, PMID:6517094, PMID:6683929 ; - oboInOwl:hasDbXref UMLS:C0265339, - ORPHA:127 ; oboInOwl:hasExactSynonym "BFLS", "borjeson syndrome", "borjeson-forssman-lehmann syndrome", "mental retardation, epilepsy, and endocrine disorders", "mental retardation, x-linked, syndromic, borjeson-forssman-lehmann iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0265339, + ORPHA:127 ; biolink:category biolink:Disease . OMIM:302000 a owl:Class ; @@ -417017,10 +433578,10 @@ OMIM:302000 a owl:Class ; PMID:6992839, PMID:7726164, PMID:7943046 ; - oboInOwl:hasDbXref UMLS:C0795974 ; oboInOwl:hasExactSynonym "HBDM", "bullous dystrophy, hereditary macular iia", "epidermolysis bullosa, macular iia" ; + skos:exactMatch UMLS:C0795974 ; biolink:category biolink:Disease . OMIM:302350 a owl:Class ; @@ -417041,13 +433602,13 @@ OMIM:302350 a owl:Class ; PMID:6467651, PMID:7806224, PMID:8088793 ; - oboInOwl:hasDbXref UMLS:C0796085, - ORPHA:627 ; oboInOwl:hasExactSynonym "NHS", "cataract, x-linked, with hutchinsonian teeth", "cataract-dental syndrome", "mesiodens-cataract syndrome", "nance-horan syndrome" ; + skos:exactMatch UMLS:C0796085, + ORPHA:627 ; biolink:category biolink:Disease . OMIM:302500 a owl:Class ; @@ -417059,20 +433620,20 @@ OMIM:302500 a owl:Class ; PMID:2816991, PMID:3668574, PMID:8687195 ; - oboInOwl:hasDbXref UMLS:C0796205 ; oboInOwl:hasExactSynonym "SCAX1", "olivopontocerebellar atrophy, X-linked", "opca, X-linked", "spinocerebellar ataxia, X-linked 1" ; + skos:exactMatch UMLS:C0796205 ; biolink:category biolink:Disease . OMIM:302600 a owl:Class ; rdfs:label "spinocerebellar ataxia, X-linked 2" ; IAO:0000142 PMID:13541590 ; - oboInOwl:hasDbXref UMLS:C1844885 ; oboInOwl:hasExactSynonym "cerebellar ataxia with extrapyramidal involvement, early-onset", "scax2", - "spinocerebellar ataxia, X-linked 2" . + "spinocerebellar ataxia, X-linked 2" ; + skos:exactMatch UMLS:C1844885 . OMIM:302800 a owl:Class ; rdfs:label "charcot-marie-tooth disease, X-linked dominant, 1" ; @@ -417115,7 +433676,6 @@ OMIM:302800 a owl:Class ; PMID:9566397, PMID:9818870, PMID:9854984 ; - oboInOwl:hasDbXref UMLS:C0393808 ; oboInOwl:hasExactSynonym "CMTX1", "charcot-marie-tooth disease, X-linked dominant, 1", "charcot-marie-tooth neuropathy, x-linked, 1", @@ -417125,6 +433685,7 @@ OMIM:302800 a owl:Class ; "hereditary motor and sensory neuropathy, X-linked", "hmsn, X-linked" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C0393808 ; biolink:category biolink:Disease . OMIM:302801 a owl:Class ; @@ -417133,11 +433694,11 @@ OMIM:302801 a owl:Class ; PMID:1674639 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1844873 ; oboInOwl:hasExactSynonym "CMTX2", "charcot-marie-tooth disease, X-linked recessive, 2", "charcot-marie-tooth neuropathy, X-linked recessive, 2" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1844873 ; biolink:category biolink:Disease . OMIM:303100 a owl:Class ; @@ -417184,12 +433745,12 @@ OMIM:303100 a owl:Class ; PMID:8380507, PMID:8477262, PMID:9754170 ; - oboInOwl:hasDbXref UMLS:C0008525, - UMLS:C0344297 ; oboInOwl:hasExactSynonym "CHM", "choroidal sclerosis", "choroideremia", "tapetochoroidal dystrophy, progressive" ; + skos:exactMatch UMLS:C0008525, + UMLS:C0344297 ; biolink:category biolink:Disease . OMIM:303400 a owl:Class ; @@ -417219,9 +433780,9 @@ OMIM:303400 a owl:Class ; PMID:8045560, PMID:8244369, PMID:8808277 ; - oboInOwl:hasDbXref UMLS:C1844830 ; oboInOwl:hasExactSynonym "CPX", "cleft palate with or without ankyloglossia, X-linked" ; + skos:exactMatch UMLS:C1844830 ; biolink:category biolink:Disease . OMIM:303800 a owl:Class ; @@ -417261,14 +433822,14 @@ OMIM:303800 a owl:Class ; PMID:8041777, PMID:9215665, PMID:929159 ; - oboInOwl:hasDbXref UMLS:C0155016, - UMLS:C3887938 ; oboInOwl:hasExactSynonym "CBD", "colorblindness, partial, deutan series", "deutan colorblindness", "deuteranomaly", "deuteranopia", "green colorblindness" ; + skos:exactMatch UMLS:C0155016, + UMLS:C3887938 ; biolink:category biolink:Disease . OMIM:303900 a owl:Class ; @@ -417294,12 +433855,12 @@ OMIM:303900 a owl:Class ; PMID:8213841, PMID:8666378, PMID:8768862 ; - oboInOwl:hasDbXref UMLS:C3887980 ; oboInOwl:hasExactSynonym "CBP", "colorblindness, partial, protan series", "protanomaly", "protanopia", "red colorblindness" ; + skos:exactMatch UMLS:C3887980 ; biolink:category biolink:Disease . OMIM:304050 a owl:Class ; @@ -417338,10 +433899,10 @@ OMIM:304050 a owl:Class ; PMID:9279766, PMID:9640202 ; RO:0002525 CHR:9606chrXp22 ; - oboInOwl:hasDbXref UMLS:C0175713 ; oboInOwl:hasExactSynonym "AIC", "aicardi syndrome", "corpus callosum, agenesis of, with chorioretinal abnormality" ; + skos:exactMatch UMLS:C0175713 ; biolink:category biolink:Disease . OMIM:304400 a owl:Class ; @@ -417373,7 +433934,6 @@ OMIM:304400 a owl:Class ; PMID:7839145, PMID:7981685, PMID:8589693 ; - oboInOwl:hasDbXref UMLS:C1844678 ; oboInOwl:hasExactSynonym "DFNX2", "deafness 3, conductive, with stapes fixation", "deafness, X-linked 2", @@ -417383,6 +433943,7 @@ OMIM:304400 a owl:Class ; "perilymphatic gusher-deafness syndrome", "sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear" ; rdfs:subClassOf OMIMPS:304500 ; + skos:exactMatch UMLS:C1844678 ; biolink:category biolink:Disease . OMIM:304500 a owl:Class ; @@ -417405,11 +433966,11 @@ OMIM:304500 a owl:Class ; PMID:5865628, PMID:7942846, PMID:8968763 ; - oboInOwl:hasDbXref UMLS:C1844677 ; oboInOwl:hasExactSynonym "DFNX1", "deafness, X-linked 1", "deafness, X-linked 2, sensorineural congenital" ; rdfs:subClassOf OMIMPS:304500 ; + skos:exactMatch UMLS:C1844677 ; biolink:category biolink:Disease . OMIM:304590 a owl:Class ; @@ -417422,9 +433983,9 @@ OMIM:304730 a owl:Class ; PMID:4759856, PMID:7282777 ; RO:0002525 CHR:9606chrXq24-qter ; - oboInOwl:hasDbXref UMLS:C1844671 ; oboInOwl:hasExactSynonym "CND", "dermoids of cornea" ; + skos:exactMatch UMLS:C1844671 ; biolink:category biolink:Disease . OMIM:304930 a owl:Class ; @@ -417467,9 +434028,6 @@ OMIM:305400 a owl:Class ; PMID:8322809, PMID:8418649, PMID:9875050 ; - oboInOwl:hasDbXref UMLS:C0175701, - UMLS:C1844569, - UMLS:C3275558 ; oboInOwl:hasExactSynonym "AAS", "aarskog syndrome, X-linked", "aarskog-scott syndrome", @@ -417480,6 +434038,9 @@ OMIM:305400 a owl:Class ; "mental retardation, x-linked, syndromic 16" ; rdfs:subClassOf OMIMPS:305400, OMIMPS:309510 ; + skos:exactMatch UMLS:C0175701, + UMLS:C1844569, + UMLS:C3275558 ; biolink:category biolink:Disease . OMIM:305425 a owl:Class ; @@ -417493,12 +434054,12 @@ OMIM:305435 a owl:Class ; PMID:7531513, PMID:9074425 ; RO:0002525 CHR:9606chrXp22.2 ; - oboInOwl:hasDbXref UMLS:C1844568 ; oboInOwl:hasExactSynonym "HBFQTL3", "f-cell production, X-linked", "fetal hemoglobin quantitative trait locus 3", "heterocellular hereditary persistence of fetal hemoglobin, swiss iia", "hpfh, swiss iia" ; + skos:exactMatch UMLS:C1844568 ; biolink:category biolink:Disease . OMIM:305450 a owl:Class ; @@ -417534,13 +434095,13 @@ OMIM:305450 a owl:Class ; PMID:9714003, PMID:9714004, PMID:9805132 ; - oboInOwl:hasDbXref UMLS:C0220769 ; oboInOwl:hasExactSynonym "OKS", "fg syndrome", "fg syndrome 1", "keller syndrome", "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum", "opitz-kaveggia syndrome" ; + skos:exactMatch UMLS:C0220769 ; biolink:category biolink:Disease . OMIM:305600 a owl:Class ; @@ -417585,13 +434146,13 @@ OMIM:305600 a owl:Class ; PMID:843447, PMID:8882775, PMID:9220199 ; - oboInOwl:hasDbXref UMLS:C0016395, - ORPHA:2092 ; oboInOwl:hasExactSynonym "FDH", "focal dermal hypoplasia", "fodh", "goltz syndrome", "goltz-gorlin syndrome" ; + skos:exactMatch UMLS:C0016395, + ORPHA:2092 ; biolink:category biolink:Disease . OMIM:306000 a owl:Class ; @@ -417627,10 +434188,6 @@ OMIM:306000 a owl:Class ; PMID:8733134, PMID:9600238, PMID:9835437 ; - oboInOwl:hasDbXref UMLS:C1844412, - UMLS:C2748941, - UMLS:C3694531, - ORPHA:264580 ; oboInOwl:hasExactSynonym "GSD9A1", "glycogen storage disease ixa1", "glycogen storage disease ixa2", @@ -417639,6 +434196,10 @@ OMIM:306000 a owl:Class ; "gsd viii, formerly", "liver glycogenosis, x-linked, iia 1", "liver glycogenosis, x-linked, iia 2" ; + skos:exactMatch UMLS:C1844412, + UMLS:C2748941, + UMLS:C3694531, + ORPHA:264580 ; biolink:category biolink:Disease . OMIM:306955 a owl:Class ; @@ -417656,9 +434217,6 @@ OMIM:306955 a owl:Class ; PMID:9311745, PMID:9354777, PMID:9354794 ; - oboInOwl:hasDbXref UMLS:C1844020, - UMLS:C3151867, - ORPHA:450 ; oboInOwl:hasExactSynonym "HTX1", "congenital heart defects, multiple types, 1, X-linked", "dextrocardia with other cardiac malformations", @@ -417666,6 +434224,9 @@ OMIM:306955 a owl:Class ; "laterality, X-linked", "situs inversus, complex cardiac defects, and splenic defects, X-linked" ; rdfs:subClassOf OMIMPS:306955 ; + skos:exactMatch UMLS:C1844020, + UMLS:C3151867, + ORPHA:450 ; biolink:category biolink:Disease . OMIM:307030 a owl:Class ; @@ -417686,12 +434247,12 @@ OMIM:307030 a owl:Class ; PMID:6325658, PMID:8651297, PMID:9719371 ; - oboInOwl:hasDbXref UMLS:C0268418 ; oboInOwl:hasExactSynonym "GKD", "gk deficiency", "gk1 deficiency", "glycerol kinase deficiency", "hyperglycerolemia" ; + skos:exactMatch UMLS:C0268418 ; biolink:category biolink:Disease . OMIM:307200 a owl:Class ; @@ -417702,7 +434263,6 @@ OMIM:307200 a owl:Class ; PMID:7189577, PMID:7849697, PMID:8013627 ; - oboInOwl:hasDbXref UMLS:C0472813 ; oboInOwl:hasExactSynonym "IGHD3", "agammaglobulinemia and isolated growth hormone deficiency, X-linked", "fleisher syndrome", @@ -417711,6 +434271,7 @@ OMIM:307200 a owl:Class ; "ighd 3", "isolated growth hormone deficiency, iia iii, with agammaglobulinemia" ; rdfs:subClassOf OMIMPS:262400 ; + skos:exactMatch UMLS:C0472813 ; biolink:category biolink:Disease . OMIM:308100 a owl:Class ; @@ -417801,9 +434362,6 @@ OMIM:308100 a owl:Class ; PMID:9175741, PMID:9252398, PMID:9804339 ; - oboInOwl:hasDbXref UMLS:C0079588, - UMLS:C2677713, - UMLS:C2717836 ; oboInOwl:hasExactSynonym "XLI", "ichthyosis, X-linked", "ichthyosis, x-linked, complicated", @@ -417811,6 +434369,9 @@ OMIM:308100 a owl:Class ; "steroid sulfatase deficiency", "steroid sulfatase deficiency disease", "sts deficiency" ; + skos:exactMatch UMLS:C0079588, + UMLS:C2677713, + UMLS:C2717836 ; biolink:category biolink:Disease . OMIM:308205 a owl:Class ; @@ -417831,13 +434392,13 @@ OMIM:308205 a owl:Class ; PMID:4037843, PMID:9021007, PMID:9714442 ; - oboInOwl:hasDbXref UMLS:C5399971, - ORPHA:2273, - ORPHA:85284 ; oboInOwl:hasExactSynonym "IFAP1", "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia", "ifap syndrome 1, with or without bresheck syndrome" ; rdfs:subClassOf OMIMPS:308205 ; + skos:exactMatch UMLS:C5399971, + ORPHA:2273, + ORPHA:85284 ; biolink:category biolink:Disease . OMIM:308230 a owl:Class ; @@ -417879,7 +434440,6 @@ OMIM:308230 a owl:Class ; PMID:8550833, PMID:8993019, PMID:9255191 ; - oboInOwl:hasDbXref UMLS:C0398689 ; oboInOwl:hasExactSynonym "HIGM1", "hyper-igm immunodeficiency, X-linked", "hyper-igm syndrome", @@ -417888,6 +434448,7 @@ OMIM:308230 a owl:Class ; "immunodeficiency with hyper-igm, iia 1" ; rdfs:subClassOf OMIMPS:300755, OMIMPS:308230 ; + skos:exactMatch UMLS:C0398689 ; biolink:category biolink:Disease . OMIM:308240 a owl:Class ; @@ -417936,7 +434497,6 @@ OMIM:308240 a owl:Class ; PMID:85816, PMID:9771253, PMID:9771704 ; - oboInOwl:hasDbXref UMLS:C0549463 ; oboInOwl:hasExactSynonym "XLP1", "duncan disease", "ebv infection, severe, susceptibility to", @@ -417951,6 +434511,7 @@ OMIM:308240 a owl:Class ; "xlp" ; rdfs:subClassOf OMIMPS:300755, OMIMPS:308240 ; + skos:exactMatch UMLS:C0549463 ; biolink:category biolink:Disease . OMIM:308350 a owl:Class ; @@ -417979,12 +434540,6 @@ OMIM:308350 a owl:Class ; PMID:870317, PMID:892251, PMID:9307258 ; - oboInOwl:hasDbXref UMLS:C3463992, - UMLS:C4552072, - ORPHA:1934, - ORPHA:3175, - ORPHA:3451, - ORPHA:364063 ; oboInOwl:hasExactSynonym "DEE1", "developmental and epileptic encephalopathy 1", "epileptic encephalopathy, early infantile, 1", @@ -417994,13 +434549,19 @@ OMIM:308350 a owl:Class ; "west syndrome, X-linked", "xmesid" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3463992, + UMLS:C4552072, + ORPHA:1934, + ORPHA:3175, + ORPHA:3451, + ORPHA:364063 ; biolink:category biolink:Disease . OMIM:308500 a owl:Class ; rdfs:label "iris hypoplasia with glaucoma" ; - oboInOwl:hasDbXref UMLS:C1839928 ; oboInOwl:hasExactSynonym "IHG", - "iris hypoplasia with glaucoma" . + "iris hypoplasia with glaucoma" ; + skos:exactMatch UMLS:C1839928 . OMIM:308700 a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 1 with or without anosmia" ; @@ -418047,8 +434608,6 @@ OMIM:308700 a owl:Class ; PMID:8768867, PMID:8989261, PMID:9713559 ; - oboInOwl:hasDbXref UMLS:C0162809, - UMLS:C1563719 ; oboInOwl:hasExactSynonym "HH1", "anosmic hypogonadism", "dysplasia olfactogenitalis of lange morsier", @@ -418057,6 +434616,8 @@ OMIM:308700 a owl:Class ; "kallmann syndrome 1", "kms" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C0162809, + UMLS:C1563719 ; biolink:category biolink:Disease . OMIM:308905 a owl:Class ; @@ -418079,11 +434640,11 @@ OMIM:308905 a owl:Class ; PMID:8659512, PMID:8834048, PMID:8834251 ; - oboInOwl:hasDbXref UMLS:C1839891 ; oboInOwl:hasExactSynonym "LOAM", "leber hereditary optic neuropathy, modifier of", "leber optic atrophy, susceptibility to", "lhon, modifier of" ; + skos:exactMatch UMLS:C1839891 ; biolink:category biolink:Disease . OMIM:308990 a owl:Class ; @@ -418100,8 +434661,8 @@ OMIM:308990 a owl:Class ; PMID:9328927, PMID:9328929, PMID:9452994 ; - oboInOwl:hasDbXref UMLS:C1839874 ; oboInOwl:hasExactSynonym "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" ; + skos:exactMatch UMLS:C1839874 ; biolink:category biolink:Disease . OMIM:309000 a owl:Class ; @@ -418142,14 +434703,14 @@ OMIM:309000 a owl:Class ; PMID:9430698, PMID:9854717, PMID:9917791 ; - oboInOwl:hasDbXref UMLS:C0028860, - UMLS:C2713392, - ORPHA:534 ; oboInOwl:hasExactSynonym "OCRL", "lowe oculocerebrorenal syndrome", "lowe syndrome", "ocrl1", "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" ; + skos:exactMatch UMLS:C0028860, + UMLS:C2713392, + ORPHA:534 ; biolink:category biolink:Disease . OMIM:309050 a owl:Class ; @@ -418159,20 +434720,20 @@ OMIM:309050 a owl:Class ; PMID:3422213, PMID:3739323, PMID:6465841 ; - oboInOwl:hasDbXref UMLS:C3887995 ; oboInOwl:hasExactSynonym "XS", "lutheran suppressor, X-linked", - "luxs" . + "luxs" ; + skos:exactMatch UMLS:C3887995 . OMIM:309120 a owl:Class ; rdfs:label "spermatogenic failure, x-linked, 2" ; IAO:0000142 PMID:25970010, PMID:574357 ; - oboInOwl:hasDbXref UMLS:C1839841 ; oboInOwl:hasExactSynonym "SPGFX2", "male infertility from defect 1n meiosis", "spermatogenic failure, x-linked, 2" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C1839841 ; biolink:category biolink:Disease . OMIM:309200 a owl:Class ; @@ -418203,12 +434764,12 @@ OMIM:309200 a owl:Class ; PMID:8490652, PMID:8490654 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C1839839 ; oboInOwl:hasExactSynonym "MAFD2", "bipolar affective disorder", "major affective disorder 2", "manic-depressive illness", "manic-depressive psychosis, X-linked" ; + skos:exactMatch UMLS:C1839839 ; biolink:category biolink:Disease . OMIM:309541 a owl:Class ; @@ -418220,7 +434781,6 @@ OMIM:309541 a owl:Class ; PMID:2378346, PMID:24011988, PMID:8826462 ; - oboInOwl:hasDbXref UMLS:C0796208 ; oboInOwl:hasExactSynonym "MAHCX", "intellectual developmental disorder, X-linked 3", "mental retardation, X-linked 3", @@ -418228,16 +434788,18 @@ OMIM:309541 a owl:Class ; "methylmalonic aciduria and homocystinuria, cblx iia" ; rdfs:subClassOf OMIMPS:277400, OMIMPS:309530 ; + skos:exactMatch UMLS:C0796208 ; biolink:category biolink:Disease . OMIM:309545 a owl:Class ; - rdfs:label "mental retardation, x-linked, syndromic 12" ; + rdfs:label "intellectual developmental disorder, x-linked, syndromic 12" ; IAO:0000142 PMID:1357179 ; RO:0002525 CHR:9606chrXp11 ; - oboInOwl:hasDbXref UMLS:C1839792 ; oboInOwl:hasExactSynonym "MRXS12", + "intellectual developmental disorder, x-linked, syndromic 12", "mental retardation, x-linked, syndromic 12" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1839792 ; biolink:category biolink:Disease . OMIM:309555 a owl:Class ; @@ -418245,9 +434807,9 @@ OMIM:309555 a owl:Class ; IAO:0000142 PMID:8456840, PMID:8503440 ; RO:0002525 CHR:9606chrXq26 ; - oboInOwl:hasDbXref UMLS:C0795965 ; oboInOwl:hasExactSynonym "gustavson syndrome", "mental retardation with optic atrophy, deafness, and seizures" ; + skos:exactMatch UMLS:C0795965 ; biolink:category biolink:Disease . OMIM:309583 a owl:Class ; @@ -418260,12 +434822,12 @@ OMIM:309583 a owl:Class ; PMID:23897707, PMID:5823961, PMID:8826448 ; - oboInOwl:hasDbXref UMLS:C0796160 ; oboInOwl:hasExactSynonym "MRXSSR", "intellectual developmental disorder, x-linked, syndromic, snyder-robinson iia", "mental retardation, x-linked, syndromic, snyder-robinson iia", "snyder-robinson mental retardation syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0796160 ; biolink:category biolink:Disease . OMIM:309585 a owl:Class ; @@ -418274,7 +434836,6 @@ OMIM:309585 a owl:Class ; PMID:1746601, PMID:25644381, PMID:758423 ; - oboInOwl:hasDbXref UMLS:C1839736 ; oboInOwl:hasExactSynonym "WTS", "intellectual developmental disorder, x-linked, syndromic, wilson-turner iia", "mental retardation, x-linked, syndromic 6", @@ -418282,19 +434843,21 @@ OMIM:309585 a owl:Class ; "mrxswt", "wilson-turner X-linked mental retardation syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1839736 ; biolink:category biolink:Disease . OMIM:309610 a owl:Class ; - rdfs:label "prieto X-linked mental retardation syndrome" ; + rdfs:label "prieto syndrome" ; IAO:0000142 PMID:1673297, PMID:3121220 ; RO:0002525 CHR:9606chrXp11-q21 ; - oboInOwl:hasDbXref UMLS:C1839730 ; oboInOwl:hasExactSynonym "PRS", "mental retardation, x-linked, syndromic 2", "mental retardation, x-linked, with dysmorphism and cerebral atrophy", - "prieto X-linked mental retardation syndrome" ; + "prieto X-linked mental retardation syndrome", + "prieto syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1839730 ; biolink:category biolink:Disease . OMIM:309620 a owl:Class ; @@ -418302,10 +434865,10 @@ OMIM:309620 a owl:Class ; IAO:0000142 PMID:3469136, PMID:837562 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C1839729 ; oboInOwl:hasExactSynonym "MRSD", "christian syndrome", "mental retardation, skeletal dysplasia, and abducens palsy" ; + skos:exactMatch UMLS:C1839729 ; biolink:category biolink:Disease . OMIM:309630 a owl:Class ; @@ -418316,9 +434879,9 @@ OMIM:309630 a owl:Class ; PMID:4223440, PMID:4538283, PMID:7802024 ; - oboInOwl:hasDbXref UMLS:C1839728 ; oboInOwl:hasExactSynonym "MF4", "metacarpal 4-5 fusion" ; + skos:exactMatch UMLS:C1839728 ; biolink:category biolink:Disease . OMIM:309800 a owl:Class ; @@ -418338,8 +434901,6 @@ OMIM:309800 a owl:Class ; PMID:31127942, PMID:6890884, PMID:9222975 ; - oboInOwl:hasDbXref UMLS:C0796016, - ORPHA:568 ; oboInOwl:hasExactSynonym "MCOPS1", "anop1, formerly", "lenz dysplasia", @@ -418348,6 +434909,8 @@ OMIM:309800 a owl:Class ; "microphthalmia, syndromic 1", "microphthalmia, syndromic 4, formerly" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C0796016, + ORPHA:568 ; biolink:category biolink:Disease . OMIM:309801 a owl:Class ; @@ -418374,7 +434937,6 @@ OMIM:309801 a owl:Class ; PMID:9737776, PMID:9747372, PMID:9929982 ; - oboInOwl:hasDbXref UMLS:C0796070 ; oboInOwl:hasExactSynonym "LSDMCA1", "linear skin defects with multiple congenital anomalies 1", "microphthalmia with linear skin defects", @@ -418383,6 +434945,7 @@ OMIM:309801 a owl:Class ; "midas syndrome" ; rdfs:subClassOf OMIMPS:309800, OMIMPS:309801 ; + skos:exactMatch UMLS:C0796070 ; biolink:category biolink:Disease . OMIM:309845 a owl:Class ; @@ -418401,13 +434964,14 @@ OMIM:309845 a owl:Class ; PMID:8188263 ; RO:0002525 CHR:9606chrXq12 ; RO:0003303 OMIM:300988 ; - oboInOwl:hasDbXref UMLS:C1417371 ; oboInOwl:hasExactSynonym "MSN", "membrane-organizing extension spike protein", "moesin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4478 ; - skos:exactMatch HGNC_symbol:MSN ; + skos:exactMatch UMLS:C1417371, + HGNC:7373, + HGNC_symbol:MSN ; biolink:category biolink:Gene . OMIM:309900 a owl:Class ; @@ -418508,7 +435072,6 @@ OMIM:309900 a owl:Class ; PMID:9843019, PMID:9921913, PMID:9950361 ; - oboInOwl:hasDbXref UMLS:C0026705 ; oboInOwl:hasExactSynonym "MPS2", "hunter syndrome", "ids deficiency", @@ -418518,6 +435081,7 @@ OMIM:309900 a owl:Class ; "sids deficiency", "sulfoiduronate sulfatase deficiency" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0026705 ; biolink:category biolink:Disease . OMIM:310200 a owl:Class ; @@ -418737,11 +435301,11 @@ OMIM:310200 a owl:Class ; PMID:9415684, PMID:9611069, PMID:9710437 ; - oboInOwl:hasDbXref UMLS:C0013264 ; oboInOwl:hasExactSynonym "DMD", "duchenne muscular dystrophy", "muscular dystrophy, duchenne iia", "muscular dystrophy, pseudohypertrophic progressive, duchenne iia" ; + skos:exactMatch UMLS:C0013264 ; biolink:category biolink:Disease . OMIM:310300 a owl:Class ; @@ -418798,7 +435362,6 @@ OMIM:310300 a owl:Class ; PMID:9361031, PMID:9536090, PMID:9949197 ; - oboInOwl:hasDbXref UMLS:C0751337 ; oboInOwl:hasExactSynonym "EDMD1", "emd1", "emery-dreifuss muscular dystrophy 1, X-linked", @@ -418806,71 +435369,7 @@ OMIM:310300 a owl:Class ; "muscular dystrophy, tardive, dreifuss-emery type, with contractures", "scapuloperoneal syndrome, x-linked, formerly" ; rdfs:subClassOf OMIMPS:310300 ; - biolink:category biolink:Disease . - -OMIM:310400 a owl:Class ; - rdfs:label "myopathy, centronuclear, X-linked" ; - IAO:0000142 PMID:10323249, - PMID:10466421, - PMID:10502779, - PMID:10714588, - PMID:10726846, - PMID:10790201, - PMID:11456308, - PMID:11552027, - PMID:1168872, - PMID:12391329, - PMID:12707446, - PMID:15690409, - PMID:15883335, - PMID:16157907, - PMID:1641160, - PMID:1822801, - PMID:1824643, - PMID:1867257, - PMID:19197364, - PMID:1972196, - PMID:1972354, - PMID:2279510, - PMID:2352255, - PMID:2352256, - PMID:2357647, - PMID:24569376, - PMID:2670345, - PMID:2994607, - PMID:3605197, - PMID:3652496, - PMID:4075080, - PMID:4136736, - PMID:4230186, - PMID:4954227, - PMID:5478951, - PMID:573609, - PMID:5816884, - PMID:6539297, - PMID:6542063, - PMID:7326611, - PMID:7611280, - PMID:7726166, - PMID:7881289, - PMID:7891372, - PMID:7969799, - PMID:8544184, - PMID:8588581, - PMID:8640223, - PMID:9169146, - PMID:9199578, - PMID:9285787, - PMID:9305655, - PMID:9450905, - PMID:9541111, - PMID:9931531 ; - oboInOwl:hasDbXref UMLS:C0410203 ; - oboInOwl:hasExactSynonym "CNMX", - "myopathy, centronuclear, X-linked", - "myotubular myopathy 1", - "myotubular myopathy, X-linked" ; - rdfs:subClassOf OMIMPS:160150 ; + skos:exactMatch UMLS:C0751337 ; biolink:category biolink:Disease . OMIM:310440 a owl:Class ; @@ -418889,11 +435388,11 @@ OMIM:310440 a owl:Class ; PMID:2892402, PMID:2897824, PMID:7755359 ; - oboInOwl:hasDbXref UMLS:C1839615, - ORPHA:25980 ; oboInOwl:hasExactSynonym "MEAX", "myopathy, x-linked, with excessive autophagy", "xmea" ; + skos:exactMatch UMLS:C1839615, + ORPHA:25980 ; biolink:category biolink:Disease . OMIM:310460 a owl:Class ; @@ -418902,10 +435401,10 @@ OMIM:310460 a owl:Class ; PMID:21357393, PMID:7262894 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C1839612 ; oboInOwl:hasExactSynonym "MYP1", "myopia 1, X-linked" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1839612 ; biolink:category biolink:Disease . OMIM:310500 a owl:Class ; @@ -418935,8 +435434,6 @@ OMIM:310500 a owl:Class ; PMID:8981959, PMID:9529339, PMID:9662400 ; - oboInOwl:hasDbXref UMLS:C0028077, - UMLS:C3495587 ; oboInOwl:hasExactSynonym "CSNB1A", "csnb, complete, X-linked", "hemeralopia-myopia", @@ -418945,6 +435442,8 @@ OMIM:310500 a owl:Class ; "night blindness, congenital stationary, with myopia", "nyctalopia" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C0028077, + UMLS:C3495587 ; biolink:category biolink:Disease . OMIM:310700 a owl:Class ; @@ -418970,8 +435469,6 @@ OMIM:310700 a owl:Class ; PMID:21746984, PMID:8494859, PMID:9973299 ; - oboInOwl:hasDbXref UMLS:C1839580, - UMLS:C3151880 ; oboInOwl:hasExactSynonym "NYS1", "nystagmus 1, congenital, X-linked", "nystagmus 1, infantile, X-linked", @@ -418980,16 +435477,18 @@ OMIM:310700 a owl:Class ; "nystagmus, infantile periodic alternating, X-linked", "xlpan" ; rdfs:subClassOf OMIMPS:310700 ; + skos:exactMatch UMLS:C1839580, + UMLS:C3151880 ; biolink:category biolink:Disease . OMIM:311000 a owl:Class ; rdfs:label "ophthalmoplegia, external, and myopia" ; IAO:0000142 PMID:14791930, PMID:5928925 ; - oboInOwl:hasDbXref UMLS:C1839577 ; oboInOwl:hasExactSynonym "OPEM", "myopia-ophthalmoplegia syndrome", "ophthalmoplegia, external, and myopia" ; + skos:exactMatch UMLS:C1839577 ; biolink:category biolink:Disease . OMIM:311010 a owl:Class ; @@ -419002,7 +435501,6 @@ OMIM:311010 a owl:Class ; PMID:3520560, PMID:3529082, PMID:8020955 ; - oboInOwl:hasDbXref UMLS:C1538917 ; oboInOwl:hasExactSynonym "ARAF1", "oncogene araf1", "oncogene pks2", @@ -419010,7 +435508,9 @@ OMIM:311010 a owl:Class ; "v-raf murine sarcoma 3611 viral oncogene homolog 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:369 ; - skos:exactMatch HGNC_symbol:ARAF ; + skos:exactMatch UMLS:C1538917, + HGNC:646, + HGNC_symbol:ARAF ; biolink:category biolink:Gene . OMIM:311040 a owl:Class ; @@ -419023,15 +435523,16 @@ OMIM:311040 a owl:Class ; PMID:7601474, PMID:7927346, PMID:8575773 ; - oboInOwl:hasDbXref UMLS:C0812446, - UMLS:C1414379 ; oboInOwl:hasExactSynonym "ELK1", "elk1, member of ets oncogene family", "elk2, member of ets oncogene family, pseudogene 1", "oncogene elk1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2002 ; - skos:exactMatch HGNC_symbol:ELK1 ; + skos:exactMatch UMLS:C0812446, + UMLS:C1414379, + HGNC:3321, + HGNC_symbol:ELK1 ; biolink:category biolink:Gene . OMIM:311050 a owl:Class ; @@ -419041,12 +435542,12 @@ OMIM:311050 a owl:Class ; PMID:27169914, PMID:9382106 ; RO:0002525 CHR:9606chrXp11.4-p11.21 ; - oboInOwl:hasDbXref UMLS:C1839576 ; oboInOwl:hasExactSynonym "OPA2", "optic atrophy 2", "optic atrophy, X-linked", "optic atrophy, non-leber type, with early onset" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C1839576 ; biolink:category biolink:Disease . OMIM:311070 a owl:Class ; @@ -419059,13 +435560,13 @@ OMIM:311070 a owl:Class ; PMID:25491489, PMID:6069085, PMID:6094052 ; - oboInOwl:hasDbXref UMLS:C1839566 ; oboInOwl:hasExactSynonym "CMTX5", "charcot-marie-tooth disease, X-linked recessive, 5", "charcot-marie-tooth neuropathy, X-linked recessive, 5", "optic atrophy, polyneuropathy, and deafness", "rosenberg-chutorian syndrome" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1839566 ; biolink:category biolink:Disease . OMIM:311250 a owl:Class ; @@ -419155,11 +435656,11 @@ OMIM:311250 a owl:Class ; PMID:8903337, PMID:941900, PMID:9831349 ; - oboInOwl:hasDbXref UMLS:C0268542, - ORPHA:664 ; oboInOwl:hasExactSynonym "ornithine carbamoyltransferase deficiency", "ornithine transcarbamylase deficiency, hyperammonemia due to", "otc deficiency" ; + skos:exactMatch UMLS:C0268542, + ORPHA:664 ; biolink:category biolink:Disease . OMIM:311400 a owl:Class ; @@ -419167,10 +435668,10 @@ OMIM:311400 a owl:Class ; IAO:0000142 PMID:14429829, PMID:4274173, PMID:6369987 ; - oboInOwl:hasDbXref UMLS:C1412041 ; oboInOwl:hasExactSynonym "microcephaly with spastic diplegia", "paine syndrome", - "seemanova syndrome 1" . + "seemanova syndrome 1" ; + skos:exactMatch UMLS:C1412041 . OMIM:311510 a owl:Class ; rdfs:label "waisman syndrome" ; @@ -419178,12 +435679,12 @@ OMIM:311510 a owl:Class ; PMID:25434005, PMID:26399558, PMID:4025396 ; - oboInOwl:hasDbXref UMLS:C0796195 ; oboInOwl:hasExactSynonym "WSMN", "basal ganglion disorder with mental retardation", "parkinsonism, early-onset, with mental retardation", "waisman syndrome", "wsn" ; + skos:exactMatch UMLS:C0796195 ; biolink:category biolink:Disease . OMIM:311770 a owl:Class ; @@ -419230,16 +435731,17 @@ OMIM:311770 a owl:Class ; PMID:9787183 ; RO:0002525 CHR:9606chrXp22.2 ; RO:0003303 OMIM:300818 ; - oboInOwl:hasDbXref UMLS:C0024790, - UMLS:C1418558, - UMLS:C1418559, - UMLS:C3275508 ; oboInOwl:hasExactSynonym "PIGA", "phosphatidylinositol glycan anchor biosynthesis class a protein", "phosphatidylinositol glycan anchor biosynthesis class a protein, pseudogene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5277 ; - skos:exactMatch HGNC_symbol:PIGA ; + skos:exactMatch UMLS:C0024790, + UMLS:C1418558, + UMLS:C1418559, + UMLS:C3275508, + HGNC:8957, + HGNC_symbol:PIGA ; biolink:category biolink:Gene . OMIM:311800 a owl:Class ; @@ -419289,9 +435791,6 @@ OMIM:311800 a owl:Class ; PMID:9744480 ; RO:0002525 CHR:9606chrXq21.1 ; RO:0003303 OMIM:300653 ; - oboInOwl:hasDbXref UMLS:C1418508, - UMLS:C1418509, - UMLS:C1418511 ; oboInOwl:hasExactSynonym "3-phosphoglycerokinase", "PGK1", "pgka", @@ -419300,7 +435799,11 @@ OMIM:311800 a owl:Class ; "phosphoglycerate kinase 1 pseudogene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5230 ; - skos:exactMatch HGNC_symbol:PGK1 ; + skos:exactMatch UMLS:C1418508, + UMLS:C1418509, + UMLS:C1418511, + HGNC:8896, + HGNC_symbol:PGK1 ; biolink:category biolink:Gene . OMIM:312000 a owl:Class ; @@ -419309,10 +435812,10 @@ OMIM:312000 a owl:Class ; PMID:15800844, PMID:17400794, PMID:192503 ; - oboInOwl:hasDbXref UMLS:C0342376 ; oboInOwl:hasExactSynonym "PHPX", "panhypopituitarism, X-linked", "pituitary dwarfism iv, formerly" ; + skos:exactMatch UMLS:C0342376 ; biolink:category biolink:Disease . OMIM:312060 a owl:Class ; @@ -419338,9 +435841,6 @@ OMIM:312060 a owl:Class ; PMID:8423238, PMID:8530058, PMID:8871668 ; - oboInOwl:hasDbXref UMLS:C1839454, - UMLS:C1839455, - UMLS:C1839456 ; oboInOwl:hasExactSynonym "CFPD", "complement factor properdin deficiency", "properdin deficiency, iia 1", @@ -419348,6 +435848,9 @@ OMIM:312060 a owl:Class ; "properdin deficiency, iia 3", "properdin deficiency, X-linked", "properdin p factor deficiency" ; + skos:exactMatch UMLS:C1839454, + UMLS:C1839455, + UMLS:C1839456 ; biolink:category biolink:Disease . OMIM:312080 a owl:Class ; @@ -419413,14 +435916,14 @@ OMIM:312080 a owl:Class ; PMID:9616125, PMID:9634530, PMID:988510 ; - oboInOwl:hasDbXref UMLS:C0205711, - ORPHA:280210, - ORPHA:280234, - ORPHA:702 ; oboInOwl:hasExactSynonym "PMD", "leukodystrophy, hypomyelinating, 1", "pelizaeus-merzbacher disease" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C0205711, + ORPHA:280210, + ORPHA:280234, + ORPHA:702 ; biolink:category biolink:Disease . OMIM:312550 a owl:Class ; @@ -419429,9 +435932,9 @@ OMIM:312550 a owl:Class ; PMID:567435, PMID:7333018, PMID:8401512 ; - oboInOwl:hasDbXref UMLS:C3887971 ; oboInOwl:hasExactSynonym "PRD", - "retinal dysplasia, primary" . + "retinal dysplasia, primary" ; + skos:exactMatch UMLS:C3887971 . OMIM:312600 a owl:Class ; rdfs:label "retinitis pigmentosa 2" ; @@ -419484,10 +435987,10 @@ OMIM:312600 a owl:Class ; PMID:8225316, PMID:8938433, PMID:9697692 ; - oboInOwl:hasDbXref UMLS:C2681923 ; oboInOwl:hasExactSynonym "RP2", "retinitis pigmentosa 2" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C2681923 ; biolink:category biolink:Disease . OMIM:312612 a owl:Class ; @@ -419496,11 +435999,11 @@ OMIM:312612 a owl:Class ; PMID:2300556 ; RO:0002525 CHR:9606chrXp21.3-p21.2 ; RO:0003303 OMIM:6 ; - oboInOwl:hasDbXref UMLS:C1839368 ; oboInOwl:hasExactSynonym "RP6", "retinitis pigmentosa 6", "retinitis pigmentosa, X-linked recessive, 6" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1839368 ; biolink:category biolink:Disease . OMIM:312700 a owl:Class ; @@ -419553,11 +436056,11 @@ OMIM:312700 a owl:Class ; PMID:9150161, PMID:9326935, PMID:9618178 ; - oboInOwl:hasDbXref UMLS:C3714753 ; oboInOwl:hasExactSynonym "RS1", "retinoschisis 1, x-linked, juvenile", "rs", "xlrs1" ; + skos:exactMatch UMLS:C3714753 ; biolink:category biolink:Disease . OMIM:313000 a owl:Class ; @@ -419574,11 +436077,11 @@ OMIM:313000 a owl:Class ; PMID:7213303, PMID:843313 ; RO:0002525 CHR:9606chrXp22.33 ; - oboInOwl:hasDbXref UMLS:C1839262, - UMLS:C1839263 ; oboInOwl:hasExactSynonym "spatial visualization, aptitude for", "turner syndrome-associated neurocognitive phenotype", "visuospatial/perceptual abilities" ; + skos:exactMatch UMLS:C1839262, + UMLS:C1839263 ; biolink:category biolink:Disease . OMIM:313350 a owl:Class ; @@ -419589,13 +436092,13 @@ OMIM:313350 a owl:Class ; PMID:7389732, PMID:7912888 ; RO:0002525 CHR:9606chrXq26 ; - oboInOwl:hasDbXref UMLS:C1839258 ; oboInOwl:hasExactSynonym "SHFM2", "shsf2", "split-hand/foot deformity 2", "split-hand/foot malformation 2", "split-hand/split-foot anomaly, X-linked" ; rdfs:subClassOf OMIMPS:183600 ; + skos:exactMatch UMLS:C1839258 ; biolink:category biolink:Disease . OMIM:313400 a owl:Class ; @@ -419614,11 +436117,11 @@ OMIM:313400 a owl:Class ; PMID:7903956, PMID:8733060, PMID:9990351 ; - oboInOwl:hasDbXref UMLS:C3541456 ; oboInOwl:hasExactSynonym "SEDT", "sed tarda, X-linked", "spondyloepiphyseal dysplasia tarda, X-linked", "spondyloepiphyseal dysplasia, late" ; + skos:exactMatch UMLS:C3541456 ; biolink:category biolink:Disease . OMIM:313470 a owl:Class ; @@ -419649,7 +436152,6 @@ OMIM:313470 a owl:Class ; PMID:7129448, PMID:7464908, PMID:7833914 ; - oboInOwl:hasDbXref UMLS:C1417157 ; oboInOwl:hasExactSynonym "CD99", "cd99 antigen, 10 chromosome", "cell surface antigen 12e7, 10 chromosome", @@ -419660,7 +436162,9 @@ OMIM:313470 a owl:Class ; "msk5x" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4267 ; - skos:exactMatch HGNC_symbol:CD99 ; + skos:exactMatch UMLS:C1417157, + HGNC:7082, + HGNC_symbol:CD99 ; biolink:category biolink:Gene . OMIM:313850 a owl:Class ; @@ -419677,13 +436181,13 @@ OMIM:313850 a owl:Class ; PMID:7909197, PMID:8834056 ; RO:0002525 CHR:9606chrXq25-q26.1 ; - oboInOwl:hasDbXref UMLS:C0559483, - UMLS:C1839173 ; oboInOwl:hasExactSynonym "THAS", "midline defects, X-linked", "pentalogy of cantrell", "tas", "thoracoabdominal syndrome" ; + skos:exactMatch UMLS:C0559483, + UMLS:C1839173 ; biolink:category biolink:Disease . OMIM:314200 a owl:Class ; @@ -419743,7 +436247,6 @@ OMIM:314200 a owl:Class ; PMID:9768672 ; RO:0002525 CHR:9606chrXq22.3 ; RO:0003303 OMIM:300932 ; - oboInOwl:hasDbXref UMLS:C1420598 ; oboInOwl:hasExactSynonym "TBG", "serpin peptidase inhibitor, clade a, member 7", "t4-binding globulin", @@ -419751,7 +436254,9 @@ OMIM:314200 a owl:Class ; "thyroxine-binding globulin of serum" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6906 ; - skos:exactMatch HGNC_symbol:SERPINA7 ; + skos:exactMatch UMLS:C1420598, + HGNC:11583, + HGNC_symbol:SERPINA7 ; biolink:category biolink:Gene . OMIM:314300 a owl:Class ; @@ -419761,12 +436266,12 @@ OMIM:314300 a owl:Class ; PMID:6132873, PMID:6951798 ; RO:0002525 CHR:9606chrXq28 ; - oboInOwl:hasDbXref UMLS:C1839129 ; oboInOwl:hasExactSynonym "TKCR", "goeminne syndrome", "tkc", "tkcr syndrome", "torticollis, keloids, cryptorchidism, and renal dysplasia" ; + skos:exactMatch UMLS:C1839129 ; biolink:category biolink:Disease . OMIM:314310 a owl:Class ; @@ -419787,11 +436292,6 @@ OMIM:314310 a owl:Class ; PMID:9393982 ; RO:0002525 CHR:9606chrXp11.23 ; RO:0003303 OMIM:300854 ; - oboInOwl:hasDbXref UMLS:C1336608, - UMLS:C1853489, - UMLS:C1854588, - UMLS:C1861554, - UMLS:C1867338 ; oboInOwl:hasExactSynonym "TFE3", "tfe3/aspscr1 fusion gene", "tfe3/cltc fusion gene", @@ -419800,7 +436300,13 @@ OMIM:314310 a owl:Class ; "transcription factor for immunoglobulin heavy-chain enhancer 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7030 ; - skos:exactMatch HGNC_symbol:TFE3 ; + skos:exactMatch UMLS:C1336608, + UMLS:C1853489, + UMLS:C1854588, + UMLS:C1861554, + UMLS:C1867338, + HGNC:11752, + HGNC_symbol:TFE3 ; biolink:category biolink:Gene . OMIM:314390 a owl:Class ; @@ -419811,10 +436317,10 @@ OMIM:314390 a owl:Class ; PMID:8280876, PMID:8882398, PMID:9508070 ; - oboInOwl:hasDbXref UMLS:C2931228 ; oboInOwl:hasExactSynonym "VACTERLX", "vacterl association, x-linked, with or without hydrocephalus", "vacterl-h, X-linked" ; + skos:exactMatch UMLS:C2931228 ; biolink:category biolink:Disease . OMIM:314400 a owl:Class ; @@ -419831,12 +436337,12 @@ OMIM:314400 a owl:Class ; PMID:5845248, PMID:8230166, PMID:9497244 ; - oboInOwl:hasDbXref UMLS:C0262436 ; oboInOwl:hasExactSynonym "CVD1", "cardiac valvular dysplasia, X-linked", "ehlers-danlos syndrome, iia v, formerly", "myxomatous valvular dystrophy, X-linked", "valvular heart disease, congenital" ; + skos:exactMatch UMLS:C0262436 ; biolink:category biolink:Disease . OMIM:314580 a owl:Class ; @@ -419851,10 +436357,6 @@ OMIM:314580 a owl:Class ; PMID:31206972, PMID:4039531, PMID:9272167 ; - oboInOwl:hasDbXref UMLS:C0796200, - UMLS:C1839735, - ORPHA:3454, - ORPHA:85283 ; oboInOwl:hasExactSynonym "WRWF", "apraxia, oculomotor, with congenital contractures and muscle atrophy", "contractures of feet, muscle atrophy, and oculomotor apraxia", @@ -419865,6 +436367,10 @@ OMIM:314580 a owl:Class ; "wieacker-wolff syndrome" ; rdfs:subClassOf OMIMPS:309510, OMIMPS:314580 ; + skos:exactMatch UMLS:C0796200, + UMLS:C1839735, + ORPHA:3454, + ORPHA:85283 ; biolink:category biolink:Disease . OMIM:314690 a owl:Class ; @@ -419893,7 +436399,6 @@ OMIM:314690 a owl:Class ; PMID:9500539 ; RO:0002525 CHR:9606chrXp11.22 ; RO:0003303 OMIM:300534 ; - oboInOwl:hasDbXref UMLS:C1539790 ; oboInOwl:hasExactSynonym "KDM5C", "dxs1272e", "jumonji, at-rich interactive domain 1c", @@ -419903,7 +436408,9 @@ OMIM:314690 a owl:Class ; "xe169" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8242 ; - skos:exactMatch HGNC_symbol:KDM5C ; + skos:exactMatch UMLS:C1539790, + HGNC:11114, + HGNC_symbol:KDM5C ; biolink:category biolink:Gene . OMIM:314900 a owl:Class ; @@ -419911,8 +436418,8 @@ OMIM:314900 a owl:Class ; IAO:0000142 PMID:4159523, PMID:4969416, PMID:5929457 ; - oboInOwl:hasDbXref UMLS:C1839088 ; oboInOwl:hasExactSynonym "xm system" ; + skos:exactMatch UMLS:C1839088 ; biolink:category biolink:Disease . OMIM:314997 a owl:Class ; @@ -419920,13 +436427,14 @@ OMIM:314997 a owl:Class ; IAO:0000142 PMID:1505955, PMID:8288223, PMID:8661144 ; - oboInOwl:hasDbXref UMLS:C1421829 ; oboInOwl:hasExactSynonym "ZNF75D", "zinc finger protein 75", "zinc finger protein 75d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7626 ; - skos:exactMatch HGNC_symbol:ZNF75D ; + skos:exactMatch UMLS:C1421829, + HGNC:13145, + HGNC_symbol:ZNF75D ; biolink:category biolink:Gene . OMIM:400000 a owl:Class ; @@ -419955,24 +436463,25 @@ OMIM:400003 a owl:Class ; PMID:8940286, PMID:8981970, PMID:9700189 ; - oboInOwl:hasDbXref UMLS:C1423870, - UMLS:C1539219 ; oboInOwl:hasExactSynonym "DAZ1", "deleted 1n azoospermia", "deleted 1n azoospermia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1617 ; - skos:exactMatch HGNC_symbol:DAZ1 ; + skos:exactMatch UMLS:C1423870, + UMLS:C1539219, + HGNC:2682, + HGNC_symbol:DAZ1 ; biolink:category biolink:Gene . OMIM:400004 a owl:Class ; rdfs:label "retinitis pigmentosa, Y-linked" ; IAO:0000142 PMID:7493160 ; RO:0002525 CHR:9606chrChr.Y ; - oboInOwl:hasDbXref UMLS:C1839079 ; oboInOwl:hasExactSynonym "RPY", "retinitis pigmentosa, Y-linked" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1839079 ; biolink:category biolink:Disease . OMIM:400006 a owl:Class ; @@ -419985,7 +436494,6 @@ OMIM:400006 a owl:Class ; PMID:8269511, PMID:9020837, PMID:9344660 ; - oboInOwl:hasDbXref UMLS:C1419310 ; oboInOwl:hasExactSynonym "RBMY1A1", "rbmy", "rna-binding motif protein 1", @@ -419995,20 +436503,23 @@ OMIM:400006 a owl:Class ; "y chromosome RNA recognition motif 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5940 ; - skos:exactMatch HGNC_symbol:RBMY1A1 ; + skos:exactMatch UMLS:C1419310, + HGNC:9912, + HGNC_symbol:RBMY1A1 ; biolink:category biolink:Gene . OMIM:400031 a owl:Class ; rdfs:label "TXLNGY" ; IAO:0000142 PMID:12815422 ; - oboInOwl:hasDbXref UMLS:C1425538 ; oboInOwl:hasExactSynonym "TXLNGY", "chromosome y open reading frame 15a", "chromosome y open reading frame 15b", "taxilin, gamma, y-linked, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:246126 ; - skos:exactMatch HGNC_symbol:TXLNGY ; + skos:exactMatch UMLS:C1425538, + HGNC:18473, + HGNC_symbol:TXLNGY ; biolink:category biolink:Gene . OMIM:400043 a owl:Class ; @@ -420018,10 +436529,10 @@ OMIM:400043 a owl:Class ; PMID:21130505, PMID:23352258 ; RO:0002525 CHR:9606chrChr.Y ; - oboInOwl:hasDbXref UMLS:C3888076 ; oboInOwl:hasExactSynonym "DFNY1", "deafness, Y-linked 1" ; rdfs:subClassOf OMIMPS:400043 ; + skos:exactMatch UMLS:C3888076 ; biolink:category biolink:Disease . OMIM:400045 a owl:Class ; @@ -420044,9 +436555,6 @@ OMIM:400045 a owl:Class ; PMID:6895206, PMID:8313919, PMID:9652903 ; - oboInOwl:hasDbXref UMLS:C2748895, - ORPHA:2138, - ORPHA:393 ; oboInOwl:hasExactSynonym "46,xx gonadal dysgenesis, complete, sry-positive", "46,xx sex reversal 1", "46,xx sex reversal, sry-positive", @@ -420056,15 +436564,18 @@ OMIM:400045 a owl:Class ; "ovotesticular disorder of sex development", "ovotesticular dsd", "xx male, sry-positive" ; + skos:exactMatch UMLS:C2748895, + ORPHA:2138, + ORPHA:393 ; biolink:category biolink:Disease . OMIM:400047 a owl:Class ; rdfs:label "deafness, Y-linked 2" ; IAO:0000142 PMID:30341416 ; - oboInOwl:hasDbXref UMLS:C5193013 ; oboInOwl:hasExactSynonym "DFNY2", "deafness, Y-linked 2" ; rdfs:subClassOf OMIMPS:400043 ; + skos:exactMatch UMLS:C5193013 ; biolink:category biolink:Disease . OMIM:425500 a owl:Class ; @@ -420076,9 +436587,9 @@ OMIM:425500 a owl:Class ; PMID:5495680, PMID:5512123 ; RO:0002525 CHR:9606chrYq ; - oboInOwl:hasDbXref UMLS:C1839070 ; oboInOwl:hasExactSynonym "hairy ears, Y-linked", - "hypertrichosis pinnae auris, Y-linked" . + "hypertrichosis pinnae auris, Y-linked" ; + skos:exactMatch UMLS:C1839070 . OMIM:500001 a owl:Class ; rdfs:label "leber optic atrophy and dystonia" ; @@ -420090,11 +436601,11 @@ OMIM:500001 a owl:Class ; PMID:5805975, PMID:8016139, PMID:8644732 ; - oboInOwl:hasDbXref UMLS:C1839040 ; oboInOwl:hasExactSynonym "dystonia, familial, with visual failure and striatal lucencies", "leber hereditary optic neuropathy with dystonia", "leber optic atrophy and dystonia", "marsden syndrome" ; + skos:exactMatch UMLS:C1839040 ; biolink:category biolink:Disease . OMIM:500002 a owl:Class ; @@ -420107,10 +436618,10 @@ OMIM:500002 a owl:Class ; PMID:7229664, PMID:7726154, PMID:7726155 ; - oboInOwl:hasDbXref UMLS:C1839028, - ORPHA:2596 ; oboInOwl:hasExactSynonym "mitochondrial myopathy with diabetes", "mitochondrial myopathy, lipid iia" ; + skos:exactMatch UMLS:C1839028, + ORPHA:2596 ; biolink:category biolink:Disease . OMIM:561010 a owl:Class ; @@ -420132,7 +436643,6 @@ OMIM:561010 a owl:Class ; PMID:6273808, PMID:7219548, PMID:8560270 ; - oboInOwl:hasDbXref UMLS:C1537997 ; oboInOwl:hasExactSynonym "MTRNR2", "hnm", "humanin", @@ -420141,7 +436651,9 @@ OMIM:561010 a owl:Class ; "rrna, 16s, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4550 ; - skos:exactMatch HGNC_symbol:MT-RNR2 ; + skos:exactMatch UMLS:C1537997, + HGNC:7471, + HGNC_symbol:MT-RNR2 ; biolink:category biolink:Gene . OMIM:580000 a owl:Class ; @@ -420157,10 +436669,10 @@ OMIM:580000 a owl:Class ; PMID:4810278, PMID:6644766, PMID:7689389 ; - oboInOwl:hasDbXref UMLS:C1838854 ; oboInOwl:hasExactSynonym "deafness, aminoglycoside-induced", "deafness, streptomycin-induced", "streptomycin ototoxicity" ; + skos:exactMatch UMLS:C1838854 ; biolink:category biolink:Disease . OMIM:600004 a owl:Class ; @@ -420171,7 +436683,6 @@ OMIM:600004 a owl:Class ; PMID:7528718, PMID:7898931, PMID:8145300 ; - oboInOwl:hasDbXref UMLS:C1414429 ; oboInOwl:hasExactSynonym "EPHA5", "bsk, mouse, homolog of", "ehk1, rat, homolog of", @@ -420181,21 +436692,24 @@ OMIM:600004 a owl:Class ; "tyro4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2044 ; - skos:exactMatch HGNC_symbol:EPHA5 ; + skos:exactMatch UMLS:C1414429, + HGNC:3389, + HGNC_symbol:EPHA5 ; biolink:category biolink:Gene . OMIM:600027 a owl:Class ; rdfs:label "SNTB2" ; IAO:0000142 PMID:7592771, PMID:8576247 ; - oboInOwl:hasDbXref UMLS:C1420298 ; oboInOwl:hasExactSynonym "SNTB2", "snt2b2", "syntrophin, beta-2", "syntrophin-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6645 ; - skos:exactMatch HGNC_symbol:SNTB2 ; + skos:exactMatch UMLS:C1420298, + HGNC:11169, + HGNC_symbol:SNTB2 ; biolink:category biolink:Gene . OMIM:600059 a owl:Class ; @@ -420208,11 +436722,11 @@ OMIM:600059 a owl:Class ; PMID:7951236, PMID:8571961, PMID:8782056 ; - oboInOwl:hasDbXref UMLS:C1838702, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP13", "retinitis pigmentosa 13" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1838702, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:600068 a owl:Class ; @@ -420222,7 +436736,6 @@ OMIM:600068 a owl:Class ; PMID:17579197, PMID:2159463, PMID:7835904 ; - oboInOwl:hasDbXref UMLS:C1421346 ; oboInOwl:hasExactSynonym "UGT2B7", "udp glucuronosyltransferase 2 family, member b7", "udp glucuronosyltransferase 2 family, member b9", @@ -420231,7 +436744,9 @@ OMIM:600068 a owl:Class ; "uridine diphosphate glycosyltransferase 2 family, member b7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7364 ; - skos:exactMatch HGNC_symbol:UGT2B7 ; + skos:exactMatch UMLS:C1421346, + HGNC:12554, + HGNC_symbol:UGT2B7 ; biolink:category biolink:Gene . OMIM:600069 a owl:Class ; @@ -420240,7 +436755,6 @@ OMIM:600069 a owl:Class ; PMID:19572376, PMID:2116769, PMID:7835904 ; - oboInOwl:hasDbXref UMLS:C1421338 ; oboInOwl:hasExactSynonym "UGT2B15", "udp glucuronosyltransferase 2 family, member b15", "udp glucuronosyltransferase 2 family, member b8", @@ -420249,7 +436763,9 @@ OMIM:600069 a owl:Class ; "uridine diphosphate glycosyltransferase 2 family, member b15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7366 ; - skos:exactMatch HGNC_symbol:UGT2B15 ; + skos:exactMatch UMLS:C1421338, + HGNC:12546, + HGNC_symbol:UGT2B15 ; biolink:category biolink:Gene . OMIM:600081 a owl:Class ; @@ -420259,13 +436775,13 @@ OMIM:600081 a owl:Class ; PMID:25942481, PMID:28548312, PMID:8201479 ; - oboInOwl:hasDbXref UMLS:C1838657, - ORPHA:289157 ; oboInOwl:hasExactSynonym "25-hydroxyvitamin d3 deficiency, selective", "VDDR1B", "pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency", "vitamin d hydroxylation-deficient rickets, iia 1b", "vitamin d-dependent rickets, iia 1b" ; + skos:exactMatch UMLS:C1838657, + ORPHA:289157 ; biolink:category biolink:Disease . OMIM:600089 a owl:Class ; @@ -420273,8 +436789,8 @@ OMIM:600089 a owl:Class ; IAO:0000142 PMID:7913714, PMID:8097481 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C1838655 ; - oboInOwl:hasExactSynonym "pancreatic beta cell agenesis with neonatal diabetes mellitus" . + oboInOwl:hasExactSynonym "pancreatic beta cell agenesis with neonatal diabetes mellitus" ; + skos:exactMatch UMLS:C1838655 . OMIM:600092 a owl:Class ; rdfs:label "nivelon-nivelon-mabille syndrome" ; @@ -420282,11 +436798,11 @@ OMIM:600092 a owl:Class ; PMID:15578577, PMID:24784881, PMID:30912300 ; - oboInOwl:hasDbXref UMLS:C1838654, - ORPHA:1422 ; oboInOwl:hasExactSynonym "NNMS", "chondrodysplasia-pseudohermaphroditism syndrome", "nivelon-nivelon-mabille syndrome" ; + skos:exactMatch UMLS:C1838654, + ORPHA:1422 ; biolink:category biolink:Disease . OMIM:600101 a owl:Class ; @@ -420300,10 +436816,10 @@ OMIM:600101 a owl:Class ; PMID:9126484, PMID:9193215, PMID:9718342 ; - oboInOwl:hasDbXref UMLS:C2677637 ; oboInOwl:hasExactSynonym "DFNA2A", "deafness, autosomal dominant 2a" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C2677637 ; biolink:category biolink:Disease . OMIM:600113 a owl:Class ; @@ -420350,12 +436866,12 @@ OMIM:600116 a owl:Class ; PMID:9634531, PMID:9634534, PMID:9748052 ; - oboInOwl:hasDbXref UMLS:C1868675 ; oboInOwl:hasExactSynonym "PARK2", "parkinson disease 2, autosomal recessive juvenile", "parkinson disease, juvenile, autosomal recessive", "parkinsonism, early-onset, with diurnal fluctuation" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1868675 ; biolink:category biolink:Disease . OMIM:600121 a owl:Class ; @@ -420367,13 +436883,13 @@ OMIM:600121 a owl:Class ; PMID:7807941, PMID:8611652, PMID:9553082 ; - oboInOwl:hasDbXref UMLS:C1838612 ; oboInOwl:hasExactSynonym "RCDP3", "agps deficiency", "alkyldihydroxyacetonephosphate synthase deficiency", "alkylglycerone-phosphate synthase deficiency", "rhizomelic chondrodysplasia punctata, iia 3" ; rdfs:subClassOf OMIMPS:215100 ; + skos:exactMatch UMLS:C1838612 ; biolink:category biolink:Disease . OMIM:600131 a owl:Class ; @@ -420389,10 +436905,10 @@ OMIM:600131 a owl:Class ; PMID:9758624 ; RO:0002525 CHR:9606chr8q24 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C1838604 ; oboInOwl:hasExactSynonym "ECA1", "epilepsy, childhood absence, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:600131 ; + skos:exactMatch UMLS:C1838604 ; biolink:category biolink:Disease . OMIM:600132 a owl:Class ; @@ -420404,10 +436920,10 @@ OMIM:600132 a owl:Class ; PMID:7987322, PMID:9462750, PMID:9462751 ; - oboInOwl:hasDbXref UMLS:C1838603 ; oboInOwl:hasExactSynonym "RP14", "retinitis pigmentosa 14" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1838603 ; biolink:category biolink:Disease . OMIM:600137 a owl:Class ; @@ -420415,7 +436931,6 @@ OMIM:600137 a owl:Class ; IAO:0000142 PMID:7731697, PMID:8477742, PMID:8536694 ; - oboInOwl:hasDbXref UMLS:C1417009 ; oboInOwl:hasExactSynonym "MAP3K10", "mitogen-activated protein kinase kinase kinase 10", "mixed-lineage kinase 2", @@ -420423,7 +436938,9 @@ OMIM:600137 a owl:Class ; "serine/threonine kinase, mkn28-derived, nonreceptor-type" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4294 ; - skos:exactMatch HGNC_symbol:MAP3K10 ; + skos:exactMatch UMLS:C1417009, + HGNC:6849, + HGNC_symbol:MAP3K10 ; biolink:category biolink:Gene . OMIM:600138 a owl:Class ; @@ -420443,10 +436960,10 @@ OMIM:600138 a owl:Class ; PMID:8808602, PMID:9345108, PMID:9545390 ; - oboInOwl:hasDbXref UMLS:C1838601 ; oboInOwl:hasExactSynonym "RP11", "retinitis pigmentosa 11" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1838601 ; biolink:category biolink:Disease . OMIM:600145 a owl:Class ; @@ -420477,28 +436994,29 @@ OMIM:600145 a owl:Class ; PMID:7977450, PMID:8492851, PMID:9008829 ; - oboInOwl:hasDbXref UMLS:C0037205, - UMLS:C0300948, - UMLS:C0344490, - UMLS:C1838568, - UMLS:C1838569 ; oboInOwl:hasExactSynonym "caudal dysgenesis syndrome", "caudal regression syndrome", "sacral agenesis", "sacral defect with anterior meningocele", "sdam", "sirenomelia" ; + skos:exactMatch UMLS:C0037205, + UMLS:C0300948, + UMLS:C0344490, + UMLS:C1838568, + UMLS:C1838569 ; biolink:category biolink:Disease . OMIM:600149 a owl:Class ; rdfs:label "glycerol kinase 3 pseudogene" ; IAO:0000142 PMID:7987308 ; - oboInOwl:hasDbXref UMLS:C3887941 ; oboInOwl:hasExactSynonym "GK3P", "gkp3", "glycerol kinase 3 pseudogene", "glycerol kinase, testicular, iia B" ; - skos:exactMatch HGNC_symbol:GK3P . + skos:exactMatch UMLS:C3887941, + HGNC:4292, + HGNC_symbol:GK3P . OMIM:600155 a owl:Class ; rdfs:label "hirschsprung disease, susceptibility to, 2" ; @@ -420517,10 +437035,10 @@ OMIM:600155 a owl:Class ; PMID:9530628, PMID:9580670, PMID:9585428 ; - oboInOwl:hasDbXref UMLS:C1838564 ; oboInOwl:hasExactSynonym "HSCR2", "hirschsprung disease, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:142623 ; + skos:exactMatch UMLS:C1838564 ; biolink:category biolink:Disease . OMIM:600156 a owl:Class ; @@ -420529,10 +437047,10 @@ OMIM:600156 a owl:Class ; PMID:17965226, PMID:20361209 ; RO:0002525 CHR:9606chr9q31 ; - oboInOwl:hasDbXref UMLS:C1970723 ; oboInOwl:hasExactSynonym "HSCR5", "hirschsprung disease, susceptibility to, 5" ; rdfs:subClassOf OMIMPS:142623 ; + skos:exactMatch UMLS:C1970723 ; biolink:category biolink:Disease . OMIM:600165 a owl:Class ; @@ -420545,7 +437063,6 @@ OMIM:600165 a owl:Class ; PMID:9792868, PMID:9933017 ; RO:0002525 CHR:9606chr11p ; - oboInOwl:hasDbXref UMLS:C1838502 ; oboInOwl:hasExactSynonym "NNO1", "microphthalmos, simple, autosomal dominant", "nanophthalmia 1", @@ -420553,6 +437070,7 @@ OMIM:600165 a owl:Class ; "nanophthalmos with high hyperopia and angle-closure glaucoma", "nanophthalmos, autosomal dominant" ; rdfs:subClassOf OMIMPS:600165 ; + skos:exactMatch UMLS:C1838502 ; biolink:category biolink:Disease . OMIM:600182 a owl:Class ; @@ -420564,7 +437082,6 @@ OMIM:600182 a owl:Class ; PMID:7829099, PMID:9726963, PMID:9751058 ; - oboInOwl:hasDbXref UMLS:C1442753 ; oboInOwl:hasExactSynonym "SLC7A5", "antigen defined by monoclonal antibody 4f2, light chain", "d16s469e", @@ -420573,7 +437090,9 @@ OMIM:600182 a owl:Class ; "solute carrier family 7 (cationic amino acid transporter, y+ system), member 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8140 ; - skos:exactMatch HGNC_symbol:SLC7A5 ; + skos:exactMatch UMLS:C1442753, + HGNC:11063, + HGNC_symbol:SLC7A5 ; biolink:category biolink:Gene . OMIM:600186 a owl:Class ; @@ -420584,10 +437103,10 @@ OMIM:600193 a owl:Class ; rdfs:label "waardenburg syndrome, iia 2b" ; IAO:0000142 PMID:7951321 ; RO:0002525 CHR:9606chr1p21-p13.3 ; - oboInOwl:hasDbXref UMLS:C1838447 ; oboInOwl:hasExactSynonym "WS2B", "waardenburg syndrome, iia 2b" ; rdfs:subClassOf OMIMPS:193500 ; + skos:exactMatch UMLS:C1838447 ; biolink:category biolink:Disease . OMIM:600195 a owl:Class ; @@ -420601,11 +437120,11 @@ OMIM:600195 a owl:Class ; PMID:8162075, PMID:8980225, PMID:9521591 ; - oboInOwl:hasDbXref UMLS:C1838437, - ORPHA:2451 ; oboInOwl:hasExactSynonym "VMCM", "venous malformations, multiple cutaneous and mucosal", "vmcm1" ; + skos:exactMatch UMLS:C1838437, + ORPHA:2451 ; biolink:category biolink:Disease . OMIM:600204 a owl:Class ; @@ -420618,10 +437137,10 @@ OMIM:600204 a owl:Class ; PMID:7829066, PMID:7942845, PMID:8528240 ; - oboInOwl:hasDbXref UMLS:C1838429 ; oboInOwl:hasExactSynonym "EDM2", "epiphyseal dysplasia, multiple, 2" ; rdfs:subClassOf OMIMPS:132400 ; + skos:exactMatch UMLS:C1838429 ; biolink:category biolink:Disease . OMIM:600209 a owl:Class ; @@ -420630,18 +437149,18 @@ OMIM:600209 a owl:Class ; PMID:1714376, PMID:8081357 ; RO:0002525 CHR:9606chr19p ; - oboInOwl:hasDbXref UMLS:C1838420 ; oboInOwl:hasExactSynonym "EXT3", "exostoses, multiple, iia 3" ; + skos:exactMatch UMLS:C1838420 ; biolink:category biolink:Disease . OMIM:600231 a owl:Class ; rdfs:label "palmoplantar keratoderma, bothnian iia" ; IAO:0000142 PMID:23830519, PMID:7531539 ; - oboInOwl:hasDbXref UMLS:C1838359 ; oboInOwl:hasExactSynonym "PPKB", "palmoplantar keratoderma, bothnian iia" ; + skos:exactMatch UMLS:C1838359 ; biolink:category biolink:Disease . OMIM:600247 a owl:Class ; @@ -420652,7 +437171,6 @@ OMIM:600247 a owl:Class ; PMID:7909357, PMID:7958835, PMID:8575773 ; - oboInOwl:hasDbXref UMLS:C0812375 ; oboInOwl:hasExactSynonym "ELK3", "elk3, ets-domain protein", "ets-related protein", @@ -420660,7 +437178,9 @@ OMIM:600247 a owl:Class ; "srf accessory protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2004 ; - skos:exactMatch HGNC_symbol:ELK3 ; + skos:exactMatch UMLS:C0812375, + HGNC:3325, + HGNC_symbol:ELK3 ; biolink:category biolink:Gene . OMIM:600262 a owl:Class ; @@ -420724,7 +437244,6 @@ OMIM:600262 a owl:Class ; PMID:9144565, PMID:9346237, PMID:9630216 ; - oboInOwl:hasDbXref UMLS:C1367485 ; oboInOwl:hasExactSynonym "PTGS2", "cyclooxygenase 2", "glucocorticoid-regulated inflammatory prostaglandin g/h synthase", @@ -420733,7 +437252,9 @@ OMIM:600262 a owl:Class ; "prostaglandin-endoperoxide synthase 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5743 ; - skos:exactMatch HGNC_symbol:PTGS2 ; + skos:exactMatch UMLS:C1367485, + HGNC:9605, + HGNC_symbol:PTGS2 ; biolink:category biolink:Gene . OMIM:600279 a owl:Class ; @@ -420747,7 +437268,6 @@ OMIM:600279 a owl:Class ; PMID:9727033 ; RO:0002525 CHR:9606chr1q23.2 ; RO:0003303 OMIM:614886 ; - oboInOwl:hasDbXref UMLS:C1419147 ; oboInOwl:hasExactSynonym "PEX19", "d1s2223e", "housekeeping gene 33", @@ -420757,7 +437277,9 @@ OMIM:600279 a owl:Class ; "peroxisome biogenesis factor 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5824 ; - skos:exactMatch HGNC_symbol:PEX19 ; + skos:exactMatch UMLS:C1419147, + HGNC:9713, + HGNC_symbol:PEX19 ; biolink:category biolink:Gene . OMIM:600286 a owl:Class ; @@ -420769,7 +437291,6 @@ OMIM:600286 a owl:Class ; PMID:8662589 ; RO:0002525 CHR:9606chr22q11.21 ; RO:0003303 OMIM:619621 ; - oboInOwl:hasDbXref UMLS:C1418579 ; oboInOwl:hasExactSynonym "PI4KA", "phosphatidylinositol 4-kinase, iia iii, alpha", "phosphatidylinositol 4-kinase, catalytic, alpha", @@ -420778,7 +437299,9 @@ OMIM:600286 a owl:Class ; "pik4ca" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5297 ; - skos:exactMatch HGNC_symbol:PI4KA ; + skos:exactMatch UMLS:C1418579, + HGNC:8983, + HGNC_symbol:PI4KA ; biolink:category biolink:Gene . OMIM:600308 a owl:Class ; @@ -420808,22 +437331,23 @@ OMIM:600308 a owl:Class ; PMID:8855281, PMID:9143504, PMID:9710437 ; - oboInOwl:hasDbXref UMLS:C1412494 ; oboInOwl:hasExactSynonym "AQP4", "aquaporin 4", "mercurial-insensitive water channel" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:361 ; - skos:exactMatch HGNC_symbol:AQP4 ; + skos:exactMatch UMLS:C1412494, + HGNC:637, + HGNC_symbol:AQP4 ; biolink:category biolink:Gene . OMIM:600309 a owl:Class ; rdfs:label "atrioventricular septal defect 3" ; IAO:0000142 PMID:11470490 ; - oboInOwl:hasDbXref UMLS:C3275750 ; oboInOwl:hasExactSynonym "AVSD3", "atrioventricular septal defect 3" ; rdfs:subClassOf OMIMPS:606215 ; + skos:exactMatch UMLS:C3275750 ; biolink:category biolink:Disease . OMIM:600316 a owl:Class ; @@ -420835,11 +437359,11 @@ OMIM:600316 a owl:Class ; PMID:9529344, PMID:9603735, PMID:9603736 ; - oboInOwl:hasDbXref UMLS:C1838263 ; oboInOwl:hasExactSynonym "DFNB3", "deafness, autosomal recessive 3", "neurosensory nonsyndromic recessive deafness 3" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1838263 ; biolink:category biolink:Disease . OMIM:600318 a owl:Class ; @@ -420847,11 +437371,11 @@ OMIM:600318 a owl:Class ; IAO:0000142 PMID:7573053, PMID:7842018 ; RO:0002525 CHR:9606chr15q26 ; - oboInOwl:hasDbXref UMLS:C1838262 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 3", "T1D3", "diabetes mellitus, insulin-dependent, 3", "insulin-dependent diabetes mellitus 3" ; + skos:exactMatch UMLS:C1838262 ; biolink:category biolink:Disease . OMIM:600319 a owl:Class ; @@ -420870,11 +437394,11 @@ OMIM:600319 a owl:Class ; PMID:9683605, PMID:9714764 ; RO:0002525 CHR:9606chr11q13 ; - oboInOwl:hasDbXref UMLS:C1838261 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 4", "T1D4", "diabetes mellitus, insulin-dependent, 4", "insulin-dependent diabetes mellitus 4" ; + skos:exactMatch UMLS:C1838261 ; biolink:category biolink:Disease . OMIM:600320 a owl:Class ; @@ -420885,11 +437409,11 @@ OMIM:600320 a owl:Class ; PMID:8072542, PMID:8733139, PMID:9662408 ; - oboInOwl:hasDbXref UMLS:C1838260 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 5", "T1D5", "diabetes mellitus, insulin-dependent, 5", "insulin-dependent diabetes mellitus 5" ; + skos:exactMatch UMLS:C1838260 ; biolink:category biolink:Disease . OMIM:600321 a owl:Class ; @@ -420903,11 +437427,11 @@ OMIM:600321 a owl:Class ; PMID:8072542, PMID:8786144 ; RO:0002525 CHR:9606chr2q31 ; - oboInOwl:hasDbXref UMLS:C1838259 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 7", "T1D7", "diabetes mellitus, insulin-dependent, 7", "insulin-dependent diabetes mellitus 7" ; + skos:exactMatch UMLS:C1838259 ; biolink:category biolink:Disease . OMIM:600326 a owl:Class ; @@ -420924,8 +437448,6 @@ OMIM:600326 a owl:Class ; PMID:8995487 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:618653 ; - oboInOwl:hasDbXref UMLS:C0812257, - UMLS:C5231444 ; oboInOwl:hasExactSynonym "DDX6", "RNA helicase, 54-kd", "dead-box helicase 6", @@ -420934,7 +437456,10 @@ OMIM:600326 a owl:Class ; "oncogene rck" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1656 ; - skos:exactMatch HGNC_symbol:DDX6 ; + skos:exactMatch UMLS:C0812257, + UMLS:C5231444, + HGNC:2747, + HGNC_symbol:DDX6 ; biolink:category biolink:Gene . OMIM:600332 a owl:Class ; @@ -420942,9 +437467,9 @@ OMIM:600332 a owl:Class ; IAO:0000142 PMID:10049580, PMID:7936247 ; RO:0002525 CHR:9606chr1q41 ; - oboInOwl:hasDbXref UMLS:C1838254 ; oboInOwl:hasExactSynonym "RMD1", "rippling muscle disease 1" ; + skos:exactMatch UMLS:C1838254 ; biolink:category biolink:Disease . OMIM:600334 a owl:Class ; @@ -420966,20 +437491,20 @@ OMIM:600334 a owl:Class ; PMID:8503797, PMID:9497249, PMID:9855539 ; - oboInOwl:hasDbXref UMLS:C1838244 ; oboInOwl:hasExactSynonym "TMD", "tardive tibial muscular dystrophy", "tibial muscular dystrophy, tardive", "udd myopathy" ; + skos:exactMatch UMLS:C1838244 ; biolink:category biolink:Disease . OMIM:600348 a owl:Class ; rdfs:label "band heterotopia" ; IAO:0000142 PMID:24859200, PMID:28556411 ; - oboInOwl:hasDbXref UMLS:C4284594 ; oboInOwl:hasExactSynonym "BH", "band heterotopia" ; + skos:exactMatch UMLS:C4284594 ; biolink:category biolink:Disease . OMIM:600361 a owl:Class ; @@ -420994,7 +437519,6 @@ OMIM:600361 a owl:Class ; PMID:6707656, PMID:9497266 ; RO:0002525 CHR:9606chr4q34.3-q35.2 ; - oboInOwl:hasDbXref UMLS:C4721916 ; oboInOwl:hasExactSynonym "charcot-marie-tooth disease with pyramidal features, autosomal dominant", "charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant", "cmt with pyramidal features", @@ -421002,6 +437526,7 @@ OMIM:600361 a owl:Class ; "hmsn 5", "hmsn5", "peroneal muscular atrophy with pyramidal features, autosomal dominant" ; + skos:exactMatch UMLS:C4721916 ; biolink:category biolink:Disease . OMIM:600363 a owl:Class ; @@ -421014,11 +437539,11 @@ OMIM:600363 a owl:Class ; PMID:7854534, PMID:8618696, PMID:9042923 ; - oboInOwl:hasDbXref UMLS:C1838192 ; oboInOwl:hasExactSynonym "SPG6", "familial spastic paraplegia, autosomal dominant, 3", "spastic paraplegia 6, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1838192 ; biolink:category biolink:Disease . OMIM:600373 a owl:Class ; @@ -421029,9 +437554,9 @@ OMIM:600373 a owl:Class ; PMID:25574826, PMID:26598328, PMID:7702089 ; - oboInOwl:hasDbXref UMLS:C1838180 ; oboInOwl:hasExactSynonym "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome", "codas syndrome" ; + skos:exactMatch UMLS:C1838180 ; biolink:category biolink:Disease . OMIM:600381 a owl:Class ; @@ -421043,13 +437568,14 @@ OMIM:600381 a owl:Class ; PMID:8039706, PMID:8575822, PMID:9605849 ; - oboInOwl:hasDbXref UMLS:C1416766 ; oboInOwl:hasExactSynonym "KTN1", "cg1 antigen", "kinectin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3895 ; - skos:exactMatch HGNC_symbol:KTN1 ; + skos:exactMatch UMLS:C1416766, + HGNC:6467, + HGNC_symbol:KTN1 ; biolink:category biolink:Gene . OMIM:600438 a owl:Class ; @@ -421071,8 +437597,6 @@ OMIM:600438 a owl:Class ; PMID:9916807 ; RO:0002525 CHR:9606chr10q21.1 ; RO:0003303 OMIM:617156 ; - oboInOwl:hasDbXref UMLS:C1420696, - UMLS:C4310690 ; oboInOwl:hasExactSynonym "TFAM", "mitochondrial transcription factor 1", "tcf6", @@ -421082,7 +437606,10 @@ OMIM:600438 a owl:Class ; "transcription factor a, mitochondrial" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7019 ; - skos:exactMatch HGNC_symbol:TFAM ; + skos:exactMatch UMLS:C1420696, + UMLS:C4310690, + HGNC:11741, + HGNC_symbol:TFAM ; biolink:category biolink:Gene . OMIM:600446 a owl:Class ; @@ -421097,13 +437624,14 @@ OMIM:600446 a owl:Class ; PMID:22253866, PMID:7790006, PMID:7836474 ; - oboInOwl:hasDbXref UMLS:C1412247 ; oboInOwl:hasExactSynonym "ADORA2B", "a2br", "adenosine a2b receptor" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:136 ; - skos:exactMatch HGNC_symbol:ADORA2B ; + skos:exactMatch UMLS:C1412247, + HGNC:264, + HGNC_symbol:ADORA2B ; biolink:category biolink:Gene . OMIM:600462 a owl:Class ; @@ -421116,21 +437644,21 @@ OMIM:600462 a owl:Class ; PMID:25227147, PMID:4364695, PMID:7726239 ; - oboInOwl:hasDbXref UMLS:C4551958 ; oboInOwl:hasExactSynonym "MLASA1", "mitochondrial myopathy and sideroblastic anemia", "myopathy, lactic acidosis, and sideroblastic anemia 1" ; rdfs:subClassOf OMIMPS:600462 ; + skos:exactMatch UMLS:C4551958 ; biolink:category biolink:Disease . OMIM:600467 a owl:Class ; rdfs:label "malignant hyperthermia, susceptibility to, 4" ; IAO:0000142 PMID:7887423 ; RO:0002525 CHR:9606chr3q13.1 ; - oboInOwl:hasDbXref UMLS:C1838102 ; oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, 4", "mhs4" ; rdfs:subClassOf OMIMPS:145600 ; + skos:exactMatch UMLS:C1838102 ; biolink:category biolink:Disease . OMIM:600489 a owl:Class ; @@ -421164,14 +437692,15 @@ OMIM:600489 a owl:Class ; PMID:8702849, PMID:9506523, PMID:9660947 ; - oboInOwl:hasDbXref UMLS:C1417694 ; oboInOwl:hasExactSynonym "NFATC1", "nfat transcription complex, cytosolic component", "nfat2", "nuclear factor of activated t cells, cytoplasmic, calcineurin-dependent 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4772 ; - skos:exactMatch HGNC_symbol:NFATC1 ; + skos:exactMatch UMLS:C1417694, + HGNC:7775, + HGNC_symbol:NFATC1 ; biolink:category biolink:Gene . OMIM:600510 a owl:Class ; @@ -421194,11 +437723,11 @@ OMIM:600510 a owl:Class ; PMID:9098278, PMID:9579474 ; RO:0002525 CHR:9606chr7q35-q36 ; - oboInOwl:hasDbXref UMLS:C1271398 ; oboInOwl:hasExactSynonym "GPDS1", "glaucoma, pigment-dispersion iia", "glaucoma-related pigment dispersion syndrome", "pigment dispersion syndrome" ; + skos:exactMatch UMLS:C1271398 ; biolink:category biolink:Disease . OMIM:600511 a owl:Class ; @@ -421243,11 +437772,11 @@ OMIM:600511 a owl:Class ; PMID:9674972 ; RO:0002525 CHR:9606chr6p23 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1838069 ; oboInOwl:hasExactSynonym "SCZD3", "schizophrenia 3", "schizophrenia 3 with or without an affective disorder", "schizophrenia susceptibility locus, chromosome 6-related" ; + skos:exactMatch UMLS:C1838069 ; biolink:category biolink:Disease . OMIM:600512 a owl:Class ; @@ -421266,13 +437795,13 @@ OMIM:600512 a owl:Class ; PMID:7647791, PMID:8773604, PMID:9989620 ; - oboInOwl:hasDbXref UMLS:C1838062, - UMLS:C4551957 ; oboInOwl:hasExactSynonym "ETL1", "epilepsy, familial temporal lobe, 1", "epilepsy, lateral temporal lobe, autosomal dominant", "epilepsy, partial, with auditory features" ; rdfs:subClassOf OMIMPS:600512 ; + skos:exactMatch UMLS:C1838062, + UMLS:C4551957 ; biolink:category biolink:Disease . OMIM:600523 a owl:Class ; @@ -421293,7 +437822,6 @@ OMIM:600523 a owl:Class ; PMID:9990067 ; RO:0002525 CHR:9606chr12q13.12 ; RO:0003303 OMIM:206100 ; - oboInOwl:hasDbXref UMLS:C1420089 ; oboInOwl:hasExactSynonym "SLC11A2", "divalent cation transporter 1", "divalent metal transporter 1", @@ -421301,7 +437829,9 @@ OMIM:600523 a owl:Class ; "solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4891 ; - skos:exactMatch HGNC_symbol:SLC11A2 ; + skos:exactMatch UMLS:C1420089, + HGNC:10908, + HGNC_symbol:SLC11A2 ; biolink:category biolink:Gene . OMIM:600535 a owl:Class ; @@ -421316,7 +437846,6 @@ OMIM:600535 a owl:Class ; PMID:7607679, PMID:7713505, PMID:8098844 ; - oboInOwl:hasDbXref UMLS:C1417112 ; oboInOwl:hasExactSynonym "MEOX2", "growth arrest-specific homeobox", "mesenchyme homeobox 2", @@ -421324,7 +437853,9 @@ OMIM:600535 a owl:Class ; "mox2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4223 ; - skos:exactMatch HGNC_symbol:MEOX2 ; + skos:exactMatch UMLS:C1417112, + HGNC:7014, + HGNC_symbol:MEOX2 ; biolink:category biolink:Gene . OMIM:600539 a owl:Class ; @@ -421335,7 +437866,6 @@ OMIM:600539 a owl:Class ; PMID:23446420, PMID:7607695, PMID:8575788 ; - oboInOwl:hasDbXref UMLS:C1418921 ; oboInOwl:hasExactSynonym "PRKCI", "pkc-lambda/iota", "prkc-lambda/iota", @@ -421343,7 +437873,9 @@ OMIM:600539 a owl:Class ; "protein kinase c, lambda/iota" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5584 ; - skos:exactMatch HGNC_symbol:PRKCI ; + skos:exactMatch UMLS:C1418921, + HGNC:9404, + HGNC_symbol:PRKCI ; biolink:category biolink:Gene . OMIM:600564 a owl:Class ; @@ -421356,7 +437888,6 @@ OMIM:600564 a owl:Class ; PMID:7805892, PMID:9126497, PMID:9756925 ; - oboInOwl:hasDbXref UMLS:C1416509 ; oboInOwl:hasExactSynonym "ITIH4", "inter-alpha-trypsin inhibitor, heavy chain 4", "inter-alpha-trypsin inhibitor, heavy chain-like, 1", @@ -421364,7 +437895,9 @@ OMIM:600564 a owl:Class ; "plasma kallikrein-sensitive glycoprotein 120" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3700 ; - skos:exactMatch HGNC_symbol:ITIH4 ; + skos:exactMatch UMLS:C1416509, + HGNC:6169, + HGNC_symbol:ITIH4 ; biolink:category biolink:Gene . OMIM:600579 a owl:Class ; @@ -421377,14 +437910,15 @@ OMIM:600579 a owl:Class ; PMID:7753550 ; RO:0002525 CHR:9606chr12p12.3 ; RO:0003303 OMIM:614196 ; - oboInOwl:hasDbXref UMLS:C1419121 ; oboInOwl:hasExactSynonym "PTPRO", "glomerular epithelial protein 1", "protein tyrosine phosphatase ptp-u2", "protein-tyrosine phosphatase, receptor-type, o" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5800 ; - skos:exactMatch HGNC_symbol:PTPRO ; + skos:exactMatch UMLS:C1419121, + HGNC:9678, + HGNC_symbol:PTPRO ; biolink:category biolink:Gene . OMIM:600582 a owl:Class ; @@ -421402,7 +437936,6 @@ OMIM:600582 a owl:Class ; PMID:8823296 ; RO:0002525 CHR:9606chr8q12.3 ; RO:0003303 OMIM:601552 ; - oboInOwl:hasDbXref UMLS:C1412592 ; oboInOwl:hasExactSynonym "ASPH", "aspartate beta-hydroxylase", "aspartyl/asparaginyl-beta-hydroxylase", @@ -421412,7 +437945,9 @@ OMIM:600582 a owl:Class ; "junctin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:444 ; - skos:exactMatch HGNC_symbol:ASPH ; + skos:exactMatch UMLS:C1412592, + HGNC:757, + HGNC_symbol:ASPH ; biolink:category biolink:Gene . OMIM:600593 a owl:Class ; @@ -421420,9 +437955,9 @@ OMIM:600593 a owl:Class ; IAO:0000142 PMID:7633418, PMID:8092187 ; RO:0002525 CHR:9606chr4p16 ; - oboInOwl:hasDbXref UMLS:C1833578 ; oboInOwl:hasExactSynonym "CRSA", "craniosynostosis, adelaide iia" ; + skos:exactMatch UMLS:C1833578 ; biolink:category biolink:Disease . OMIM:600594 a owl:Class ; @@ -421430,13 +437965,14 @@ OMIM:600594 a owl:Class ; IAO:0000142 PMID:3770751, PMID:7633403, PMID:7655455 ; - oboInOwl:hasDbXref UMLS:C1414026 ; oboInOwl:hasExactSynonym "DGCR2", "digeorge syndrome critical region gene 2", "integral membrane protein deleted 1n digeorge syndrome" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9993 ; - skos:exactMatch HGNC_symbol:DGCR2 ; + skos:exactMatch UMLS:C1414026, + HGNC:2845, + HGNC_symbol:DGCR2 ; biolink:category biolink:Gene . OMIM:600600 a owl:Class ; @@ -421446,7 +437982,6 @@ OMIM:600600 a owl:Class ; PMID:12384430, PMID:15973414, PMID:8666391 ; - oboInOwl:hasDbXref UMLS:C1366441 ; oboInOwl:hasExactSynonym "EPHB1", "elk", "eph tyrosine kinase 2", @@ -421455,7 +437990,9 @@ OMIM:600600 a owl:Class ; "neuronally expressed eph-related tyrosine kinase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2047 ; - skos:exactMatch HGNC_symbol:EPHB1 ; + skos:exactMatch UMLS:C1366441, + HGNC:3392, + HGNC_symbol:EPHB1 ; biolink:category biolink:Gene . OMIM:600610 a owl:Class ; @@ -421465,11 +438002,6 @@ OMIM:600610 a owl:Class ; PMID:7799916, PMID:8441384, PMID:9792629 ; - oboInOwl:hasDbXref UMLS:C1414907, - UMLS:C1876155, - UMLS:C1876156, - UMLS:C1876157, - UMLS:C1876159 ; oboInOwl:hasExactSynonym "GABPB", "adenovirus e4 gene transcription factor 1, 47-kd subunit", "adenovirus e4 gene transcription factor 1, 53-kd subunit", @@ -421486,7 +438018,13 @@ OMIM:600610 a owl:Class ; "nuclear respiratory factor 2, gamma subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2553 ; - skos:exactMatch HGNC_symbol:GABPB1 ; + skos:exactMatch UMLS:C1414907, + UMLS:C1876155, + UMLS:C1876156, + UMLS:C1876157, + UMLS:C1876159, + HGNC:4074, + HGNC_symbol:GABPB1 ; biolink:category biolink:Gene . OMIM:600623 a owl:Class ; @@ -421504,7 +438042,6 @@ OMIM:600623 a owl:Class ; PMID:9126478, PMID:9736732, PMID:9828210 ; - oboInOwl:hasDbXref UMLS:C0812444 ; oboInOwl:hasExactSynonym "CD82", "cd82 antigen", "kangai 1", @@ -421514,18 +438051,20 @@ OMIM:600623 a owl:Class ; "suppressor of tumorigenicity 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3732 ; - skos:exactMatch HGNC_symbol:CD82 ; + skos:exactMatch UMLS:C0812444, + HGNC:6210, + HGNC_symbol:CD82 ; biolink:category biolink:Gene . OMIM:600624 a owl:Class ; rdfs:label "cone-rod dystrophy 1" ; IAO:0000142 PMID:1867279 ; RO:0002525 CHR:9606chr18q21.1-q21.3 ; - oboInOwl:hasDbXref UMLS:C1833564 ; oboInOwl:hasExactSynonym "CORD1", "cone-rod dystrophy 1", "crd1" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1833564 ; biolink:category biolink:Disease . OMIM:600625 a owl:Class ; @@ -421534,15 +438073,15 @@ OMIM:600625 a owl:Class ; PMID:17497721, PMID:19249007, PMID:8533798 ; - oboInOwl:hasDbXref UMLS:C1833563, - UMLS:C2677434, - ORPHA:199306 ; oboInOwl:hasExactSynonym "OFC11", "cleft 51p with or without cleft palate, nonsyndromic, 11", "cleft lip, congenital healed", "congenital healed cleft 51p", "orofacial cleft 11" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1833563, + UMLS:C2677434, + ORPHA:199306 ; biolink:category biolink:Disease . OMIM:600627 a owl:Class ; @@ -421551,10 +438090,10 @@ OMIM:600627 a owl:Class ; PMID:6883719, PMID:7133092, PMID:7628119 ; - oboInOwl:hasDbXref UMLS:C2931837 ; oboInOwl:hasExactSynonym "HYPTRP", "hypertryptophanemia", "hypertryptophanemia, familial" ; + skos:exactMatch UMLS:C2931837 ; biolink:category biolink:Disease . OMIM:600631 a owl:Class ; @@ -421563,10 +438102,10 @@ OMIM:600631 a owl:Class ; PMID:9152831 ; RO:0002525 CHR:9606chr13q13-q14.3 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C0270327 ; oboInOwl:hasExactSynonym "ENUR1", "bedwetting", "enuresis, nocturnal, 1" ; + skos:exactMatch UMLS:C0270327 ; biolink:category biolink:Disease . OMIM:600642 a owl:Class ; @@ -421579,7 +438118,6 @@ OMIM:600642 a owl:Class ; PMID:7539551, PMID:8111046, PMID:8482585 ; - oboInOwl:hasDbXref UMLS:C1422252 ; oboInOwl:hasExactSynonym "MYO1G", "d6s207e", "hla-ha2", @@ -421587,7 +438125,9 @@ OMIM:600642 a owl:Class ; "myosin 1g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64005 ; - skos:exactMatch HGNC_symbol:MYO1G ; + skos:exactMatch UMLS:C1422252, + HGNC:13880, + HGNC_symbol:MYO1G ; biolink:category biolink:Gene . OMIM:600644 a owl:Class ; @@ -421604,7 +438144,6 @@ OMIM:600644 a owl:Class ; PMID:9758630 ; RO:0002525 CHR:9606chr11q23.3 ; RO:0003303 OMIM:225060 ; - oboInOwl:hasDbXref UMLS:C1419142 ; oboInOwl:hasExactSynonym "NECTIN1", "herpesvirus entry mediator c", "nectin 1", @@ -421614,7 +438153,9 @@ OMIM:600644 a owl:Class ; "pvrr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5818 ; - skos:exactMatch HGNC_symbol:NECTIN1 ; + skos:exactMatch UMLS:C1419142, + HGNC:9706, + HGNC_symbol:NECTIN1 ; biolink:category biolink:Gene . OMIM:600652 a owl:Class ; @@ -421623,34 +438164,34 @@ OMIM:600652 a owl:Class ; PMID:15015131, PMID:16222661, PMID:7655461 ; - oboInOwl:hasDbXref UMLS:C1833503 ; oboInOwl:hasExactSynonym "DFNA4A", "deafness, autosomal dominant 4", "deafness, autosomal dominant 4a" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1833503 ; biolink:category biolink:Disease . OMIM:600666 a owl:Class ; rdfs:label "polycystic kidney disease 3 with or without polycystic liver disease" ; IAO:0000142 PMID:27259053, PMID:29243290 ; - oboInOwl:hasDbXref UMLS:C3887964 ; oboInOwl:hasExactSynonym "PKD3", "polycystic kidney disease 3 with or without polycystic liver disease", "polycystic kidney disease, adult, iia 3" ; rdfs:subClassOf OMIMPS:173900 ; + skos:exactMatch UMLS:C3887964 ; biolink:category biolink:Disease . OMIM:600668 a owl:Class ; rdfs:label "chondrocalcinosis 1" ; IAO:0000142 PMID:7887424 ; RO:0002525 CHR:9606chr8q ; - oboInOwl:hasDbXref UMLS:C1833499, - ORPHA:1416 ; oboInOwl:hasExactSynonym "CCAL1", "calcium pyrophosphate dihydrate deposition disease 1", "chondrocalcinosis 1", "chondrocalcinosis with early-onset osteoarthritis" ; + skos:exactMatch UMLS:C1833499, + ORPHA:1416 ; biolink:category biolink:Disease . OMIM:600682 a owl:Class ; @@ -421674,17 +438215,18 @@ OMIM:600682 a owl:Class ; PMID:9824713 ; RO:0002525 CHR:9606chr1p13.2 ; RO:0003303 OMIM:616095 ; - oboInOwl:hasDbXref UMLS:C1420102, - UMLS:C1855577, - UMLS:C1864902, - UMLS:C4016683, - UMLS:C4016684 ; oboInOwl:hasExactSynonym "SLC16A1", "monocarboxylate transporter 1", "solute carrier family 16 (monocarboxylic acid transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6566 ; - skos:exactMatch HGNC_symbol:SLC16A1 ; + skos:exactMatch UMLS:C1420102, + UMLS:C1855577, + UMLS:C1864902, + UMLS:C4016683, + UMLS:C4016684, + HGNC:10922, + HGNC_symbol:SLC16A1 ; biolink:category biolink:Gene . OMIM:600695 a owl:Class ; @@ -421724,7 +438266,6 @@ OMIM:600716 a owl:Class ; PMID:8890164 ; RO:0002525 CHR:9606chr1p13.2 ; RO:0003303 OMIM:152700 ; - oboInOwl:hasDbXref UMLS:C1419102 ; oboInOwl:hasExactSynonym "PTPN22", "lymphoid phosphatase", "pest-domain phosphatase", @@ -421732,19 +438273,22 @@ OMIM:600716 a owl:Class ; "protein-tyrosine phosphatase, nonreceptor-type 8, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26191 ; - skos:exactMatch HGNC_symbol:PTPN22 ; + skos:exactMatch UMLS:C1419102, + HGNC:9652, + HGNC_symbol:PTPN22 ; biolink:category biolink:Gene . OMIM:600720 a owl:Class ; rdfs:label "nitric oxide synthase 2 pseudogene 1" ; IAO:0000142 PMID:7558036, PMID:9441901 ; - oboInOwl:hasDbXref UMLS:C1417762 ; oboInOwl:hasExactSynonym "NOS2P1", "nitric oxide synthase 2 pseudogene 1", "nitric oxide synthase 2c", "nosii-2" ; - skos:exactMatch HGNC_symbol:NOS2P1 . + skos:exactMatch UMLS:C1417762, + HGNC:7875, + HGNC_symbol:NOS2P1 . OMIM:600721 a owl:Class ; rdfs:label "d-2-hydroxyglutaric aciduria 1" ; @@ -421761,11 +438305,11 @@ OMIM:600721 a owl:Class ; PMID:6774165, PMID:7609436, PMID:7782605 ; - oboInOwl:hasDbXref UMLS:C3152055 ; oboInOwl:hasExactSynonym "D2HGA1", "d-2-hydroxyglutaric aciduria 1", "d2hga" ; rdfs:subClassOf OMIMPS:600721 ; + skos:exactMatch UMLS:C3152055 ; biolink:category biolink:Disease . OMIM:600724 a owl:Class ; @@ -421785,7 +438329,6 @@ OMIM:600724 a owl:Class ; PMID:8766832 ; RO:0002525 CHR:9606chr16q21 ; RO:0003303 OMIM:613767 ; - oboInOwl:hasDbXref UMLS:C1413546 ; oboInOwl:hasExactSynonym "CNGB1", "cyclic nucleotide-gated channel, beta-1", "cyclic nucleotide-gated channel, photoreceptor, cgmp-gated, 2", @@ -421795,7 +438338,9 @@ OMIM:600724 a owl:Class ; "retinal rod cgmp-gated channel, gamma subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1258 ; - skos:exactMatch HGNC_symbol:CNGB1 ; + skos:exactMatch UMLS:C1413546, + HGNC:2151, + HGNC_symbol:CNGB1 ; biolink:category biolink:Gene . OMIM:600737 a owl:Class ; @@ -421811,13 +438356,13 @@ OMIM:600740 a owl:Class ; PMID:27050234, PMID:7635467, PMID:9915958 ; - oboInOwl:hasDbXref UMLS:C1833372 ; oboInOwl:hasExactSynonym "HHC3", "familial benign hypercalcemia, iia 3", "hypercalcemia, familial benign, iia 3", "hypercalcemia, familial benign, oklahoma iia", "hypocalciuric hypercalcemia, familial, iia 3" ; rdfs:subClassOf OMIMPS:145980 ; + skos:exactMatch UMLS:C1833372 ; biolink:category biolink:Disease . OMIM:600757 a owl:Class ; @@ -421827,11 +438372,11 @@ OMIM:600757 a owl:Class ; PMID:8751880, PMID:9003487 ; RO:0002525 CHR:9606chr19q13 ; - oboInOwl:hasDbXref UMLS:C1833369 ; oboInOwl:hasExactSynonym "OFC3", "cleft 51p with or without cleft palate, nonsyndromic, 3", "orofacial cleft 3" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1833369 ; biolink:category biolink:Disease . OMIM:600758 a owl:Class ; @@ -421855,14 +438400,15 @@ OMIM:600758 a owl:Class ; PMID:7566154, PMID:7766995, PMID:8422239 ; - oboInOwl:hasDbXref UMLS:C1366894 ; oboInOwl:hasExactSynonym "PTK2", "focal adhesion kinase", "focal adhesion kinase 1", "protein-tyrosine kinase, cytoplasmic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5747 ; - skos:exactMatch HGNC_symbol:PTK2 ; + skos:exactMatch UMLS:C1366894, + HGNC:9611, + HGNC_symbol:PTK2 ; biolink:category biolink:Gene . OMIM:600775 a owl:Class ; @@ -421872,10 +438418,10 @@ OMIM:600775 a owl:Class ; PMID:23438589, PMID:26097063, PMID:8533829 ; - oboInOwl:hasDbXref UMLS:C3806917 ; oboInOwl:hasExactSynonym "CRS4", "craniosynostosis 4" ; rdfs:subClassOf OMIMPS:123100 ; + skos:exactMatch UMLS:C3806917 ; biolink:category biolink:Disease . OMIM:600792 a owl:Class ; @@ -421883,11 +438429,11 @@ OMIM:600792 a owl:Class ; IAO:0000142 PMID:8541854, PMID:8944017 ; RO:0002525 CHR:9606chr14q12 ; - oboInOwl:hasDbXref UMLS:C1833319 ; oboInOwl:hasExactSynonym "DFNB5", "deafness, autosomal recessive 5", "neurosensory nonsyndromic recessive deafness 5" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1833319 ; biolink:category biolink:Disease . OMIM:600802 a owl:Class ; @@ -421898,9 +438444,9 @@ OMIM:600802 a owl:Class ; PMID:7659163, PMID:9063412, PMID:9354668 ; - oboInOwl:hasDbXref UMLS:C1833275 ; oboInOwl:hasExactSynonym "scid, t cell-negative, B cell-positive, nk cell-negative", "severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative" ; + skos:exactMatch UMLS:C1833275 ; biolink:category biolink:Disease . OMIM:600803 a owl:Class ; @@ -421924,11 +438470,11 @@ OMIM:600803 a owl:Class ; PMID:6517051, PMID:7601405, PMID:7644485 ; - oboInOwl:hasDbXref UMLS:C2609268 ; oboInOwl:hasExactSynonym "GBD1", "cholelithiasis, low phospholipid-associated", "gallbladder disease 1" ; rdfs:subClassOf OMIMPS:600803 ; + skos:exactMatch UMLS:C2609268 ; biolink:category biolink:Disease . OMIM:600808 a owl:Class ; @@ -421936,9 +438482,9 @@ OMIM:600808 a owl:Class ; IAO:0000142 PMID:9152831 ; RO:0002525 CHR:9606chr12q13-q21 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1833268 ; oboInOwl:hasExactSynonym "ENUR2", "enuresis, nocturnal, 2" ; + skos:exactMatch UMLS:C1833268 ; biolink:category biolink:Disease . OMIM:600816 a owl:Class ; @@ -421961,7 +438507,6 @@ OMIM:600816 a owl:Class ; PMID:31205025, PMID:7585962, PMID:8530083 ; - oboInOwl:hasDbXref UMLS:C1415764 ; oboInOwl:hasExactSynonym "HSPA8", "heat-shock 70-kd protein 10, formerly", "heat-shock 70-kd protein 8", @@ -421972,7 +438517,9 @@ OMIM:600816 a owl:Class ; "lps-associated protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3312 ; - skos:exactMatch HGNC_symbol:HSPA8 ; + skos:exactMatch UMLS:C1415764, + HGNC:5241, + HGNC_symbol:HSPA8 ; biolink:category biolink:Gene . OMIM:600825 a owl:Class ; @@ -421994,7 +438541,6 @@ OMIM:600825 a owl:Class ; PMID:9226375 ; RO:0002525 CHR:9606chr15q22.2 ; RO:0003303 OMIM:618060 ; - oboInOwl:hasDbXref UMLS:C1335634 ; oboInOwl:hasExactSynonym "RORA", "rar-related orphan receptor a", "rar-related orphan receptor alpha", @@ -422002,7 +438548,9 @@ OMIM:600825 a owl:Class ; "rzr-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6095 ; - skos:exactMatch HGNC_symbol:RORA ; + skos:exactMatch UMLS:C1335634, + HGNC:10258, + HGNC_symbol:RORA ; biolink:category biolink:Gene . OMIM:600833 a owl:Class ; @@ -422013,7 +438561,6 @@ OMIM:600833 a owl:Class ; PMID:11726924, PMID:7624150, PMID:8938430 ; - oboInOwl:hasDbXref UMLS:C1420445 ; oboInOwl:hasExactSynonym "ST7", "fam4a1", "ray1", @@ -422021,7 +438568,9 @@ OMIM:600833 a owl:Class ; "tsg7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7982 ; - skos:exactMatch HGNC_symbol:ST7 ; + skos:exactMatch UMLS:C1420445, + HGNC:11351, + HGNC_symbol:ST7 ; biolink:category biolink:Gene . OMIM:600850 a owl:Class ; @@ -422043,10 +438592,10 @@ OMIM:600850 a owl:Class ; PMID:8178837, PMID:8678112, PMID:9514586 ; - oboInOwl:hasDbXref UMLS:C1833247 ; oboInOwl:hasExactSynonym "SCZD4", "schizophrenia 4", "schizophrenia susceptibility locus, chromosome 22q11-related" ; + skos:exactMatch UMLS:C1833247 ; biolink:category biolink:Disease . OMIM:600877 a owl:Class ; @@ -422067,14 +438616,15 @@ OMIM:600877 a owl:Class ; PMID:8735215 ; RO:0002525 CHR:9606chr21q22.13 ; RO:0003303 OMIM:614098 ; - oboInOwl:hasDbXref UMLS:C1416588 ; oboInOwl:hasExactSynonym "KCNJ6", "girk2", "potassium channel, inwardly rectifying, subfamily j, member 6", "potassium channel, inwardly rectifying, subfamily j, member 7, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3763 ; - skos:exactMatch HGNC_symbol:KCNJ6 ; + skos:exactMatch UMLS:C1416588, + HGNC:6267, + HGNC_symbol:KCNJ6 ; biolink:category biolink:Gene . OMIM:600880 a owl:Class ; @@ -422089,11 +438639,11 @@ OMIM:600880 a owl:Class ; PMID:3949113, PMID:7665859, PMID:9245936 ; - oboInOwl:hasDbXref UMLS:C0546323, - UMLS:C0856761 ; oboInOwl:hasExactSynonym "BDCHS", "budd-chiari syndrome", "membranous obstruction of inferior vena cava" ; + skos:exactMatch UMLS:C0546323, + UMLS:C0856761 ; biolink:category biolink:Disease . OMIM:600881 a owl:Class ; @@ -422104,16 +438654,16 @@ OMIM:600881 a owl:Class ; PMID:8623885, PMID:9497271, PMID:9788845 ; - oboInOwl:hasDbXref UMLS:C1833229, + oboInOwl:hasExactSynonym "CTRCT10", + "cataract 10, multiple types", + "cataract, congenital zonular, with sutural opacities" ; + rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1833229, ORPHA:441452, ORPHA:91492, ORPHA:98985, ORPHA:98991, ORPHA:98993 ; - oboInOwl:hasExactSynonym "CTRCT10", - "cataract 10, multiple types", - "cataract, congenital zonular, with sutural opacities" ; - rdfs:subClassOf OMIMPS:116200 ; biolink:category biolink:Disease . OMIM:600882 a owl:Class ; @@ -422128,7 +438678,6 @@ OMIM:600882 a owl:Class ; PMID:7573046, PMID:8659534, PMID:9219740 ; - oboInOwl:hasDbXref UMLS:C1833219 ; oboInOwl:hasExactSynonym "CMT2B", "charcot-marie-tooth disease, autosomal dominant, iia 2b", "charcot-marie-tooth disease, axonal, iia 2b", @@ -422136,17 +438685,18 @@ OMIM:600882 a owl:Class ; "hereditary motor and sensory neuropathy 2b", "hmsn2b" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1833219 ; biolink:category biolink:Disease . OMIM:600883 a owl:Class ; rdfs:label " iia 1 diabetes mellitus 8" ; IAO:0000142 PMID:7573053 ; RO:0002525 CHR:9606chr6q25-q27 ; - oboInOwl:hasDbXref UMLS:C1833218 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 8", "T1D8", "diabetes mellitus, insulin-dependent, 8", "insulin-dependent diabetes mellitus 8" ; + skos:exactMatch UMLS:C1833218 ; biolink:category biolink:Disease . OMIM:600884 a owl:Class ; @@ -422156,12 +438706,12 @@ OMIM:600884 a owl:Class ; PMID:7969328, PMID:8194837 ; RO:0002525 CHR:9606chr9q13 ; - oboInOwl:hasDbXref UMLS:C0340427 ; oboInOwl:hasExactSynonym "CMD1B", "cardiomyopathy, dilated, 1b", "cardiomyopathy, familial dilated", "cardiomyopathy, familial dilated, 1" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C0340427 ; biolink:category biolink:Disease . OMIM:600894 a owl:Class ; @@ -422208,9 +438758,6 @@ OMIM:600899 a owl:Class ; PMID:9716137 ; RO:0002525 CHR:9606chr8q11.21 ; RO:0003303 OMIM:615966 ; - oboInOwl:hasDbXref UMLS:C1335262, - UMLS:C4016698, - UMLS:C4016699 ; oboInOwl:hasExactSynonym "PRKDC", "dna-dependent protein kinase", "dna-dependent protein kinase, catalytic subunit", @@ -422220,7 +438767,11 @@ OMIM:600899 a owl:Class ; "protein kinase, dna-activated, catalytic subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5591 ; - skos:exactMatch HGNC_symbol:PRKDC ; + skos:exactMatch UMLS:C1335262, + UMLS:C4016698, + UMLS:C4016699, + HGNC:9413, + HGNC_symbol:PRKDC ; biolink:category biolink:Gene . OMIM:600901 a owl:Class ; @@ -422232,11 +438783,11 @@ OMIM:600901 a owl:Class ; PMID:8786063, PMID:9147877, PMID:9382107 ; - oboInOwl:hasDbXref UMLS:C3160739 ; oboInOwl:hasExactSynonym "FANCE", "face", "fanconi anemia, complementation group e" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C3160739 ; biolink:category biolink:Disease . OMIM:600910 a owl:Class ; @@ -422246,14 +438797,15 @@ OMIM:600910 a owl:Class ; PMID:8666396, PMID:8702754, PMID:9730618 ; - oboInOwl:hasDbXref UMLS:C1416454 ; oboInOwl:hasExactSynonym "INSL4", "early placenta insulin-like peptide", "insulin-like 4", "placentin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3641 ; - skos:exactMatch HGNC_symbol:INSL4 ; + skos:exactMatch UMLS:C1416454, + HGNC:6087, + HGNC_symbol:INSL4 ; biolink:category biolink:Gene . OMIM:600919 a owl:Class ; @@ -422262,12 +438814,12 @@ OMIM:600919 a owl:Class ; PMID:15178757, PMID:17242276, PMID:7485162 ; - oboInOwl:hasDbXref UMLS:C1833154, - UMLS:C1970119 ; oboInOwl:hasExactSynonym "ankyrin-b syndrome", "cardiac arrhythmia, ankyrin-b-related", "long qt syndrome 4" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C1833154, + UMLS:C1970119 ; biolink:category biolink:Disease . OMIM:600920 a owl:Class ; @@ -422283,11 +438835,11 @@ OMIM:600920 a owl:Class ; PMID:8403449, PMID:8558561, PMID:9557887 ; - oboInOwl:hasDbXref UMLS:C1833136 ; oboInOwl:hasExactSynonym "VDEGS", "blepharophimosis, arachnodactyly, and congenital contractures", "marden-walker-like syndrome without psychomotor retardation", "van den ende-gupta syndrome" ; + skos:exactMatch UMLS:C1833136 ; biolink:category biolink:Disease . OMIM:600924 a owl:Class ; @@ -422306,15 +438858,16 @@ OMIM:600924 a owl:Class ; PMID:8900538 ; RO:0002525 CHR:9606chr16p13.3 ; RO:0003303 OMIM:613076 ; - oboInOwl:hasDbXref UMLS:C1415043, - UMLS:C2751320 ; oboInOwl:hasExactSynonym "GFER", "augmenter of liver regeneration", "erv1, s. cerevisiae, homolog of", "growth factor, erv1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2671 ; - skos:exactMatch HGNC_symbol:GFER ; + skos:exactMatch UMLS:C1415043, + UMLS:C2751320, + HGNC:4236, + HGNC_symbol:GFER ; biolink:category biolink:Gene . OMIM:600943 a owl:Class ; @@ -422332,8 +438885,6 @@ OMIM:600943 a owl:Class ; PMID:9588174 ; RO:0002525 CHR:9606chr11q13.5 ; RO:0003303 OMIM:610504 ; - oboInOwl:hasDbXref UMLS:C1413153, - UMLS:C1426527 ; oboInOwl:hasExactSynonym "SERPINH1", "cbp1", "collagen-binding protein 2", @@ -422344,7 +438895,10 @@ OMIM:600943 a owl:Class ; "serpinh2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:871 ; - skos:exactMatch HGNC_symbol:SERPINH1 ; + skos:exactMatch UMLS:C1413153, + UMLS:C1426527, + HGNC:1546, + HGNC_symbol:SERPINH1 ; biolink:category biolink:Gene . OMIM:600962 a owl:Class ; @@ -422357,13 +438911,13 @@ OMIM:600962 a owl:Class ; PMID:7528239, PMID:7531539, PMID:7544664 ; - oboInOwl:hasDbXref UMLS:C1833030 ; oboInOwl:hasExactSynonym "NEPPK", "keratoderma, nonepidermolytic palmoplantar", "nonepidermolytic palmoplantar keratoderma", "palmoplantar keratoderma, nonepidermolytic", "ppkne", "tylosis" ; + skos:exactMatch UMLS:C1833030 ; biolink:category biolink:Disease . OMIM:600965 a owl:Class ; @@ -422379,12 +438933,12 @@ OMIM:600965 a owl:Class ; PMID:5157378, PMID:5663381, PMID:8595423 ; - oboInOwl:hasDbXref UMLS:C1833021 ; oboInOwl:hasExactSynonym "DFNA6", "deafness, autosomal dominant 14", "deafness, autosomal dominant 38", "deafness, autosomal dominant 6" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1833021 ; biolink:category biolink:Disease . OMIM:600971 a owl:Class ; @@ -422395,11 +438949,11 @@ OMIM:600971 a owl:Class ; PMID:8593615, PMID:8789454, PMID:8944017 ; - oboInOwl:hasDbXref UMLS:C1832992 ; oboInOwl:hasExactSynonym "DFNB6", "deafness, autosomal recessive 6", "neurosensory nonsyndromic recessive deafness 6" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1832992 ; biolink:category biolink:Disease . OMIM:600974 a owl:Class ; @@ -422410,11 +438964,11 @@ OMIM:600974 a owl:Class ; PMID:8634715, PMID:8755925, PMID:9106521 ; - oboInOwl:hasDbXref UMLS:C1832978 ; oboInOwl:hasExactSynonym "DFNB7", "deafness, autosomal recessive 11", "deafness, autosomal recessive 7" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1832978 ; biolink:category biolink:Disease . OMIM:600975 a owl:Class ; @@ -422422,21 +438976,21 @@ OMIM:600975 a owl:Class ; IAO:0000142 PMID:8586416, PMID:8842741 ; RO:0002525 CHR:9606chr1p36.2-p36.1 ; - oboInOwl:hasDbXref UMLS:C1832977 ; oboInOwl:hasExactSynonym "GLC3B", "glaucoma 3, primary infantile, B", "glaucoma, primary congenital, iia B", "glc3, iia B" ; + skos:exactMatch UMLS:C1832977 ; biolink:category biolink:Disease . OMIM:600977 a owl:Class ; rdfs:label "cone-rod dystrophy 5" ; IAO:0000142 PMID:17377520, PMID:8586428 ; - oboInOwl:hasDbXref UMLS:C1832976 ; oboInOwl:hasExactSynonym "CORD5", "cone-rod dystrophy 5" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1832976 ; biolink:category biolink:Disease . OMIM:600987 a owl:Class ; @@ -422445,10 +438999,10 @@ OMIM:600987 a owl:Class ; PMID:25712757, PMID:27225850, PMID:8825606 ; - oboInOwl:hasDbXref UMLS:C1832950 ; oboInOwl:hasExactSynonym "CPCMR", "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies", "cleft palate, cardiac defects, and mental retardation" ; + skos:exactMatch UMLS:C1832950 ; biolink:category biolink:Disease . OMIM:601003 a owl:Class ; @@ -422465,10 +439019,10 @@ OMIM:601003 a owl:Class ; PMID:8825625, PMID:8841193, PMID:9367679 ; - oboInOwl:hasDbXref UMLS:C1832918 ; oboInOwl:hasExactSynonym "BROD", "brody disease", "brody myopathy" ; + skos:exactMatch UMLS:C1832918 ; biolink:category biolink:Disease . OMIM:601005 a owl:Class ; @@ -422481,10 +439035,10 @@ OMIM:601005 a owl:Class ; PMID:21910241, PMID:25691416, PMID:7572644 ; - oboInOwl:hasDbXref UMLS:C1832916 ; oboInOwl:hasExactSynonym "TS", "long qt syndrome with syndactyly", "timothy syndrome" ; + skos:exactMatch UMLS:C1832916 ; biolink:category biolink:Disease . OMIM:601040 a owl:Class ; @@ -422521,7 +439075,6 @@ OMIM:601040 a owl:Class ; PMID:9539787 ; RO:0002525 CHR:9606chr12q24.31 ; RO:0003303 OMIM:610762 ; - oboInOwl:hasDbXref UMLS:C1413218 ; oboInOwl:hasExactSynonym "SCARB1", "cd36 and limpii analogous 1", "cd36 antigen-like 1", @@ -422529,7 +439082,9 @@ OMIM:601040 a owl:Class ; "scavenger receptor, class b, iia 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:949 ; - skos:exactMatch HGNC_symbol:SCARB1 ; + skos:exactMatch UMLS:C1413218, + HGNC:1664, + HGNC_symbol:SCARB1 ; biolink:category biolink:Gene . OMIM:601056 a owl:Class ; @@ -422544,13 +439099,14 @@ OMIM:601056 a owl:Class ; PMID:8752150, PMID:9096119, PMID:9321477 ; - oboInOwl:hasDbXref UMLS:C1412761 ; oboInOwl:hasExactSynonym "BCL2A1", "bcl2-related gene bfl1", "bcl2-related protein a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:597 ; - skos:exactMatch HGNC_symbol:BCL2A1 ; + skos:exactMatch UMLS:C1412761, + HGNC:991, + HGNC_symbol:BCL2A1 ; biolink:category biolink:Gene . OMIM:601067 a owl:Class ; @@ -422561,14 +439117,14 @@ OMIM:601067 a owl:Class ; PMID:21940737, PMID:2909824, PMID:8894709 ; - oboInOwl:hasDbXref UMLS:C1832845, - UMLS:C3152102, - UMLS:C3275872 ; oboInOwl:hasExactSynonym "USH1D", "ush1d/f, cdh23/pcdh15, digenic", "usher syndrome, iia 1d", "usher syndrome, iia id/f, cdh23/pcdh15, digenic" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C1832845, + UMLS:C3152102, + UMLS:C3275872 ; biolink:category biolink:Disease . OMIM:601068 a owl:Class ; @@ -422587,12 +439143,12 @@ OMIM:601068 a owl:Class ; PMID:9073039, PMID:9159732, PMID:9865802 ; - oboInOwl:hasDbXref UMLS:C1832841 ; oboInOwl:hasExactSynonym "FAME1", "benign adult familial myoclonic epilepsy 1", "cortical myoclonic tremor with epilepsy, familial, 1", "epilepsy, familial adult myoclonic, 1" ; rdfs:subClassOf OMIMPS:601068 ; + skos:exactMatch UMLS:C1832841 ; biolink:category biolink:Disease . OMIM:601071 a owl:Class ; @@ -422611,8 +439167,6 @@ OMIM:601071 a owl:Class ; PMID:8789454, PMID:9657592, PMID:9781041 ; - oboInOwl:hasDbXref UMLS:C1832828, - UMLS:C1832830 ; oboInOwl:hasExactSynonym "DFNB9", "auditory neuropathy, autosomal recessive, 1", "auditory neuropathy, nonsyndromic recessive", @@ -422620,6 +439174,8 @@ OMIM:601071 a owl:Class ; "neurosensory nonsyndromic recessive deafness 9" ; rdfs:subClassOf OMIMPS:220290, OMIMPS:609129 ; + skos:exactMatch UMLS:C1832828, + UMLS:C1832830 ; biolink:category biolink:Disease . OMIM:601076 a owl:Class ; @@ -422642,24 +439198,25 @@ OMIM:601076 a owl:Class ; PMID:8592344, PMID:8741919, PMID:9546833 ; - oboInOwl:hasDbXref UMLS:C1832817 ; oboInOwl:hasExactSynonym "MURCS", "klippel-feil deformity, conductive deafness, and absent vagina", "mayer-rokitansky-kuster-hauser syndrome, iia 2", "mrkh, iia 2", "mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies" ; + skos:exactMatch UMLS:C1832817 ; biolink:category biolink:Disease . OMIM:601079 a owl:Class ; rdfs:label "zrsr2 pseudogene 1" ; IAO:0000142 PMID:1946366, PMID:8586425 ; - oboInOwl:hasDbXref UMLS:C1824081 ; oboInOwl:hasExactSynonym "ZRSR2P1", "u2 small nuclear ribonucleoprotein auxiliary factor, small subunit 1", "zinc finger-, ccch domain-, and rna-binding motif-containing serine/arginine-rich protein 1", "zrsr2 pseudogene 1" ; - skos:exactMatch HGNC_symbol:ZRSR2P1 . + skos:exactMatch UMLS:C1824081, + HGNC:12456, + HGNC_symbol:ZRSR2P1 . OMIM:601086 a owl:Class ; rdfs:label "laterality defects, autosomal dominant" ; @@ -422667,8 +439224,8 @@ OMIM:601086 a owl:Class ; PMID:15151499, PMID:17938964, PMID:8834043 ; - oboInOwl:hasDbXref UMLS:C1832813 ; oboInOwl:hasExactSynonym "laterality defects, autosomal dominant" ; + skos:exactMatch UMLS:C1832813 ; biolink:category biolink:Disease . OMIM:601098 a owl:Class ; @@ -422680,8 +439237,6 @@ OMIM:601098 a owl:Class ; PMID:21896645, PMID:2239969, PMID:23359569 ; - oboInOwl:hasDbXref UMLS:C0270913, - ORPHA:101083 ; oboInOwl:hasExactSynonym "CMT1C", "charcot-marie-tooth disease, demyelinating, iia 1c", "charcot-marie-tooth neuropathy, iia 1c", @@ -422689,6 +439244,8 @@ OMIM:601098 a owl:Class ; "hmsn 1c", "neuropathy, hereditary motor and sensory, iia 1c" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C0270913, + ORPHA:101083 ; biolink:category biolink:Disease . OMIM:601101 a owl:Class ; @@ -422697,10 +439254,10 @@ OMIM:601101 a owl:Class ; PMID:15994879, PMID:8782041 ; RO:0002525 CHR:9606chr5q31.3-q32 ; - oboInOwl:hasDbXref UMLS:C1832774 ; oboInOwl:hasExactSynonym "HHT3", "telangiectasia, hereditary hemorrhagic, iia 3" ; rdfs:subClassOf OMIMPS:187300 ; + skos:exactMatch UMLS:C1832774 ; biolink:category biolink:Disease . OMIM:601110 a owl:Class ; @@ -422713,13 +439270,13 @@ OMIM:601110 a owl:Class ; PMID:17551933, PMID:28108845, PMID:8552211 ; - oboInOwl:hasDbXref UMLS:C1832736 ; oboInOwl:hasExactSynonym "CDG1D", "carbohydrate-deficient glycoprotein syndrome, iia iv, formerly", "cdg id", "cdgs, iia iv, formerly", "congenital disorder of glycosylation, iia id" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C1832736 ; biolink:category biolink:Disease . OMIM:601112 a owl:Class ; @@ -422730,14 +439287,15 @@ OMIM:601112 a owl:Class ; PMID:8650234, PMID:8921404, PMID:9671710 ; - oboInOwl:hasDbXref UMLS:C1421248 ; oboInOwl:hasExactSynonym "TXNRD1", "thioredoxin reductase 1", "tr1", "txnr" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7296 ; - skos:exactMatch HGNC_symbol:TXNRD1 ; + skos:exactMatch UMLS:C1421248, + HGNC:12437, + HGNC_symbol:TXNRD1 ; biolink:category biolink:Gene . OMIM:601124 a owl:Class ; @@ -422751,7 +439309,6 @@ OMIM:601124 a owl:Class ; PMID:8402908, PMID:8633026, PMID:8786119 ; - oboInOwl:hasDbXref UMLS:C1419946 ; oboInOwl:hasExactSynonym "SEMA3F", "semaphorin 3f", "semaphorin 4", @@ -422759,7 +439316,9 @@ OMIM:601124 a owl:Class ; "semaphorin k" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6405 ; - skos:exactMatch HGNC_symbol:SEMA3F ; + skos:exactMatch UMLS:C1419946, + HGNC:10728, + HGNC_symbol:SEMA3F ; biolink:category biolink:Gene . OMIM:601134 a owl:Class ; @@ -422773,8 +439332,6 @@ OMIM:601134 a owl:Class ; PMID:8941377 ; RO:0002525 CHR:9606chr11q24.2 ; RO:0003303 OMIM:615596 ; - oboInOwl:hasDbXref UMLS:C1823138, - UMLS:C3810062 ; oboInOwl:hasExactSynonym "STT3A", "integral membrane protein 1", "oligosaccharyltransferase complex, catalytic subunit stt3a", @@ -422782,16 +439339,19 @@ OMIM:601134 a owl:Class ; "transmembrane conserved gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3703 ; - skos:exactMatch HGNC_symbol:STT3A ; + skos:exactMatch UMLS:C1823138, + UMLS:C3810062, + HGNC:6172, + HGNC_symbol:STT3A ; biolink:category biolink:Gene . OMIM:601136 a owl:Class ; rdfs:label "transsuppressor of expression 2" ; IAO:0000142 PMID:8838317 ; - oboInOwl:hasDbXref UMLS:C1832726 ; oboInOwl:hasExactSynonym "albumin extinguisher", "transsuppressor of expression 2", - "tse2" . + "tse2" ; + skos:exactMatch UMLS:C1832726 . OMIM:601145 a owl:Class ; rdfs:label "CSTB" ; @@ -422816,13 +439376,14 @@ OMIM:601145 a owl:Class ; PMID:9806543 ; RO:0002525 CHR:9606chr21q22.3 ; RO:0003303 OMIM:254800 ; - oboInOwl:hasDbXref UMLS:C1332798 ; oboInOwl:hasExactSynonym "CSTB", "cystatin B", "stefin B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1476 ; - skos:exactMatch HGNC_symbol:CSTB ; + skos:exactMatch UMLS:C1332798, + HGNC:2482, + HGNC_symbol:CSTB ; biolink:category biolink:Gene . OMIM:601150 a owl:Class ; @@ -422840,8 +439401,6 @@ OMIM:601150 a owl:Class ; PMID:9013641 ; RO:0002525 CHR:9606chr12p11.21 ; RO:0003303 OMIM:613398 ; - oboInOwl:hasDbXref UMLS:C1413953, - UMLS:C3150658 ; oboInOwl:hasExactSynonym "DDX11", "chl1-related helicase gene 1", "dead/h-box 11", @@ -422849,19 +439408,23 @@ OMIM:601150 a owl:Class ; "keratinocyte growth factor regulated gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1663 ; - skos:exactMatch HGNC_symbol:DDX11 ; + skos:exactMatch UMLS:C1413953, + UMLS:C3150658, + HGNC:2736, + HGNC_symbol:DDX11 ; biolink:category biolink:Gene . OMIM:601151 a owl:Class ; rdfs:label "dead/h-box helicase 12, pseudogene" ; IAO:0000142 PMID:8833153, PMID:9013641 ; - oboInOwl:hasDbXref UMLS:C1413954 ; oboInOwl:hasExactSynonym "DDX12P", "chl1-related helicase gene 2", "dead/h-box 12", "dead/h-box helicase 12, pseudogene" ; - skos:exactMatch HGNC_symbol:DDX12P . + skos:exactMatch UMLS:C1413954, + HGNC:2737, + HGNC_symbol:DDX12P . OMIM:601152 a owl:Class ; rdfs:label "neuropathy, hereditary motor and sensory, iia via, with optic atrophy" ; @@ -422872,7 +439435,6 @@ OMIM:601152 a owl:Class ; PMID:8576556, PMID:8708653, PMID:9120454 ; - oboInOwl:hasDbXref UMLS:C0393807 ; oboInOwl:hasExactSynonym "HMSN6A", "charcot-marie-tooth disease, iia 6", "charcot-marie-tooth disease, iia 6a", @@ -422881,6 +439443,7 @@ OMIM:601152 a owl:Class ; "neuropathy, hereditary motor and sensory, iia via, with optic atrophy", "peripheral neuropathy and optic atrophy" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C0393807 ; biolink:category biolink:Disease . OMIM:601153 a owl:Class ; @@ -422917,8 +439480,6 @@ OMIM:601153 a owl:Class ; PMID:8988031, PMID:9405656, PMID:9689122 ; - oboInOwl:hasDbXref UMLS:C0919457, - UMLS:C1414761 ; oboInOwl:hasExactSynonym "FHIT", "ap3a hydrolase", "fragile histidine triad diadenosine triphosphatase", @@ -422926,7 +439487,10 @@ OMIM:601153 a owl:Class ; "fragile site 3p14.2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2272 ; - skos:exactMatch HGNC_symbol:FHIT ; + skos:exactMatch UMLS:C0919457, + UMLS:C1414761, + HGNC:3701, + HGNC_symbol:FHIT ; biolink:category biolink:Gene . OMIM:601172 a owl:Class ; @@ -422939,7 +439503,6 @@ OMIM:601172 a owl:Class ; PMID:8562938, PMID:8562939, PMID:8790396 ; - oboInOwl:hasDbXref UMLS:C1332797 ; oboInOwl:hasExactSynonym "CSPG4", "chondroitin sulfate proteoglycan 4", "chondroitin sulfate proteoglycan ng2, rat, homolog of", @@ -422948,7 +439511,9 @@ OMIM:601172 a owl:Class ; "msk16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1464 ; - skos:exactMatch HGNC_symbol:CSPG4 ; + skos:exactMatch UMLS:C1332797, + HGNC:2466, + HGNC_symbol:CSPG4 ; biolink:category biolink:Gene . OMIM:601177 a owl:Class ; @@ -422957,13 +439522,14 @@ OMIM:601177 a owl:Class ; PMID:2107548, PMID:28410364, PMID:7956370 ; - oboInOwl:hasDbXref UMLS:C1412507 ; oboInOwl:hasExactSynonym "ARF4", "adp-ribosylation factor 2, formerly", "adp-ribosylation factor 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:378 ; - skos:exactMatch HGNC_symbol:ARF4 ; + skos:exactMatch UMLS:C1412507, + HGNC:655, + HGNC_symbol:ARF4 ; biolink:category biolink:Gene . OMIM:601202 a owl:Class ; @@ -422972,12 +439538,12 @@ OMIM:601202 a owl:Class ; PMID:8852669, PMID:9497271 ; RO:0002525 CHR:9606chr17p13 ; - oboInOwl:hasDbXref UMLS:C1832609 ; oboInOwl:hasExactSynonym "CTRCT24", "cataract 24", "cataract 24, anterior polar", "cataract, anterior polar, 2" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1832609 ; biolink:category biolink:Disease . OMIM:601208 a owl:Class ; @@ -422985,11 +439551,11 @@ OMIM:601208 a owl:Class ; IAO:0000142 PMID:11592928, PMID:8617492 ; RO:0002525 CHR:9606chr14q24.3-q31 ; - oboInOwl:hasDbXref UMLS:C1832605 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 11", "T1D11", "diabetes mellitus, insulin-dependent, 11", "insulin-dependent diabetes mellitus 11" ; + skos:exactMatch UMLS:C1832605 ; biolink:category biolink:Disease . OMIM:601216 a owl:Class ; @@ -423000,12 +439566,12 @@ OMIM:601216 a owl:Class ; PMID:25899461, PMID:29625025, PMID:8721563 ; - oboInOwl:hasDbXref UMLS:C1832594 ; oboInOwl:hasExactSynonym "DASS", "dental anomalies and short stature", "platyspondyly with amelogenesis imperfecta", "tooth agenesis, selective, 6, formerly", "verloes-bourguignon syndrome" ; + skos:exactMatch UMLS:C1832594 ; biolink:category biolink:Disease . OMIM:601227 a owl:Class ; @@ -423024,9 +439590,6 @@ OMIM:601228 a owl:Class ; PMID:8644741, PMID:9024286 ; RO:0002525 CHR:9606chr15q15.3-q22.1 ; - oboInOwl:hasDbXref UMLS:C1832587, - UMLS:C2677290, - UMLS:C2677291 ; oboInOwl:hasExactSynonym "HMPS1", "chromosome 15q13-q14 duplication syndrome, 40-kb", "colorectal adenoma and carcinoma 1", @@ -423034,6 +439597,9 @@ OMIM:601228 a owl:Class ; "colorectal cancer, susceptibility to, on chromosome 15", "polyposis syndrome, hereditary mixed, 1" ; rdfs:subClassOf OMIMPS:601228 ; + skos:exactMatch UMLS:C1832587, + UMLS:C2677290, + UMLS:C2677291 ; biolink:category biolink:Disease . OMIM:601238 a owl:Class ; @@ -423043,9 +439609,9 @@ OMIM:601238 a owl:Class ; PMID:8812488, PMID:8845847, PMID:9590283 ; - oboInOwl:hasDbXref UMLS:C1832585 ; oboInOwl:hasExactSynonym "ATCAY", "cerebellar ataxia, cayman iia" ; + skos:exactMatch UMLS:C1832585 ; biolink:category biolink:Disease . OMIM:601260 a owl:Class ; @@ -423054,7 +439620,6 @@ OMIM:601260 a owl:Class ; PMID:7486829, PMID:7557990, PMID:8268908 ; - oboInOwl:hasDbXref UMLS:C1538174 ; oboInOwl:hasExactSynonym "ZKSCAN1", "zinc finger protein 139, formerly", "zinc finger protein 36", @@ -423062,7 +439627,9 @@ OMIM:601260 a owl:Class ; "zinc finger protein, kruppel type, 18" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7586 ; - skos:exactMatch HGNC_symbol:ZKSCAN1 ; + skos:exactMatch UMLS:C1538174, + HGNC:13101, + HGNC_symbol:ZKSCAN1 ; biolink:category biolink:Gene . OMIM:601271 a owl:Class ; @@ -423076,7 +439643,6 @@ OMIM:601271 a owl:Class ; PMID:9268639, PMID:9328941, PMID:9344659 ; - oboInOwl:hasDbXref UMLS:C1415358 ; oboInOwl:hasExactSynonym "GUCA2B", "gcap 2", "guanylate cyclase activator 2b", @@ -423084,7 +439650,9 @@ OMIM:601271 a owl:Class ; "uroguanylin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2981 ; - skos:exactMatch HGNC_symbol:GUCA2B ; + skos:exactMatch UMLS:C1415358, + HGNC:4683, + HGNC_symbol:GUCA2B ; biolink:category biolink:Gene . OMIM:601283 a owl:Class ; @@ -423097,11 +439665,11 @@ OMIM:601283 a owl:Class ; PMID:8640221, PMID:9710438, PMID:9988276 ; - oboInOwl:hasDbXref UMLS:C1832544 ; oboInOwl:hasExactSynonym " iia 2 diabetes mellitus 1", "T2D1", "diabetes mellitus, noninsulin-dependent, 1", "noninsulin-dependent diabetes mellitus 1" ; + skos:exactMatch UMLS:C1832544 ; biolink:category biolink:Disease . OMIM:601287 a owl:Class ; @@ -423114,11 +439682,11 @@ OMIM:601287 a owl:Class ; PMID:8841194, PMID:9660967, PMID:9832045 ; - oboInOwl:hasDbXref UMLS:C1832525 ; oboInOwl:hasExactSynonym "LGMDR6", "muscular dystrophy, limb-girdle, iia 2f", "muscular dystrophy, limb-girdle, autosomal recessive 6" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C1832525 ; biolink:category biolink:Disease . OMIM:601296 a owl:Class ; @@ -423139,22 +439707,23 @@ OMIM:601296 a owl:Class ; PMID:8653786 ; RO:0002525 CHR:9606chr9q31.3 ; RO:0003303 OMIM:616325 ; - oboInOwl:hasDbXref UMLS:C1367702 ; oboInOwl:hasExactSynonym "MUSK", "muscle, skeletal, receptor tyrosine kinase", "receptor tyrosine kinase nsk2, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4593 ; - skos:exactMatch HGNC_symbol:MUSK ; + skos:exactMatch UMLS:C1367702, + HGNC:7525, + HGNC_symbol:MUSK ; biolink:category biolink:Gene . OMIM:601308 a owl:Class ; rdfs:label "myeloid tumor suppressor" ; IAO:0000142 PMID:8241509, PMID:8632993 ; - oboInOwl:hasDbXref UMLS:C1832510 ; oboInOwl:hasExactSynonym "myeloid leukemia-related locus", "myeloid tumor suppressor" ; + skos:exactMatch UMLS:C1832510 ; biolink:category biolink:Disease . OMIM:601314 a owl:Class ; @@ -423168,7 +439737,6 @@ OMIM:601314 a owl:Class ; PMID:8812426 ; RO:0002525 CHR:9606chr5q23.3 ; RO:0003303 OMIM:137200 ; - oboInOwl:hasDbXref UMLS:C1415545 ; oboInOwl:hasExactSynonym "HINT1", "hint", "histidine triad nucleotide-binding protein 1", @@ -423176,7 +439744,9 @@ OMIM:601314 a owl:Class ; "protein kinase c-interacting protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3094 ; - skos:exactMatch HGNC_symbol:HINT1 ; + skos:exactMatch UMLS:C1415545, + HGNC:4912, + HGNC_symbol:HINT1 ; biolink:category biolink:Gene . OMIM:601316 a owl:Class ; @@ -423186,10 +439756,10 @@ OMIM:601316 a owl:Class ; PMID:17567890, PMID:17568404, PMID:8776603 ; - oboInOwl:hasDbXref UMLS:C1832476 ; oboInOwl:hasExactSynonym "DFNA10", "deafness, autosomal dominant 10" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1832476 ; biolink:category biolink:Disease . OMIM:601318 a owl:Class ; @@ -423197,11 +439767,11 @@ OMIM:601318 a owl:Class ; IAO:0000142 PMID:10848492, PMID:8650584 ; RO:0002525 CHR:9606chr2q34 ; - oboInOwl:hasDbXref UMLS:C1832474 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 13", "T1D13", "diabetes mellitus, insulin-dependent, 13", "insulin-dependent diabetes mellitus 13" ; + skos:exactMatch UMLS:C1832474 ; biolink:category biolink:Disease . OMIM:601324 a owl:Class ; @@ -423214,7 +439784,6 @@ OMIM:601324 a owl:Class ; PMID:8661052, PMID:9521873, PMID:9615222 ; - oboInOwl:hasDbXref UMLS:C1415638 ; oboInOwl:hasExactSynonym "HNRNPD", "are-binding protein auf1, iia a", "au-rich element rna-binding protein 1, 37-kd", @@ -423222,7 +439791,9 @@ OMIM:601324 a owl:Class ; "hnrpd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3184 ; - skos:exactMatch HGNC_symbol:HNRNPD ; + skos:exactMatch UMLS:C1415638, + HGNC:5036, + HGNC_symbol:HNRNPD ; biolink:category biolink:Gene . OMIM:601331 a owl:Class ; @@ -423230,9 +439801,9 @@ OMIM:601331 a owl:Class ; IAO:0000142 PMID:1253459, PMID:21922595, PMID:8725780 ; - oboInOwl:hasDbXref UMLS:C3275898 ; oboInOwl:hasExactSynonym "CYSRD", "renal dysplasia, cystic, susceptibility to" ; + skos:exactMatch UMLS:C3275898 ; biolink:category biolink:Disease . OMIM:601358 a owl:Class ; @@ -423243,11 +439814,11 @@ OMIM:601358 a owl:Class ; PMID:25249037, PMID:8287185, PMID:8723571 ; - oboInOwl:hasDbXref UMLS:C1303073 ; oboInOwl:hasExactSynonym "NCBRS", "nbs", "nicolaides-baraitser syndrome", "sparse hair and mental retardation" ; + skos:exactMatch UMLS:C1303073 ; biolink:category biolink:Disease . OMIM:601362 a owl:Class ; @@ -423259,9 +439830,9 @@ OMIM:601362 a owl:Class ; PMID:9415468, PMID:9781025 ; RO:0002525 CHR:9606chr10p14-p13 ; - oboInOwl:hasDbXref UMLS:C1832431 ; oboInOwl:hasExactSynonym "dgs2", "digeorge syndrome/velocardiofacial syndrome complex 2" ; + skos:exactMatch UMLS:C1832431 ; biolink:category biolink:Disease . OMIM:601363 a owl:Class ; @@ -423269,11 +439840,11 @@ OMIM:601363 a owl:Class ; IAO:0000142 PMID:8696342, PMID:9860296 ; RO:0002525 CHR:9606chr17q12-q21 ; - oboInOwl:hasDbXref UMLS:C1832426 ; oboInOwl:hasExactSynonym "WT4", "familial wilms tumor 1", "wilms tumor 4" ; rdfs:subClassOf OMIMPS:194070 ; + skos:exactMatch UMLS:C1832426 ; biolink:category biolink:Disease . OMIM:601369 a owl:Class ; @@ -423291,10 +439862,10 @@ OMIM:601369 a owl:Class ; PMID:8417734, PMID:8817345, PMID:9806553 ; - oboInOwl:hasDbXref UMLS:C1832425 ; oboInOwl:hasExactSynonym "DFNA9", "deafness, autosomal dominant 9" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1832425 ; biolink:category biolink:Disease . OMIM:601382 a owl:Class ; @@ -423305,13 +439876,13 @@ OMIM:601382 a owl:Class ; PMID:8628474, PMID:8817346, PMID:9887383 ; - oboInOwl:hasDbXref UMLS:C1832399 ; oboInOwl:hasExactSynonym "CMT4B1", "charcot-marie-tooth disease, iia 4b", "charcot-marie-tooth disease, iia 4b1", "charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, iia 4b1", "charcot-marie-tooth neuropathy, iia 4b1" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1832399 ; biolink:category biolink:Disease . OMIM:601386 a owl:Class ; @@ -423321,10 +439892,10 @@ OMIM:601386 a owl:Class ; PMID:19270079, PMID:21940737, PMID:8817348 ; - oboInOwl:hasDbXref UMLS:C1832394 ; oboInOwl:hasExactSynonym "DFNB12", "deafness, autosomal recessive 12" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1832394 ; biolink:category biolink:Disease . OMIM:601390 a owl:Class ; @@ -423333,11 +439904,11 @@ OMIM:601390 a owl:Class ; PMID:22473091, PMID:24056717, PMID:8026105 ; - oboInOwl:hasDbXref UMLS:C4551950 ; oboInOwl:hasExactSynonym "VMLDS1", "cerebrofacioarticular syndrome", "van maldergem syndrome 1" ; rdfs:subClassOf OMIMPS:601390 ; + skos:exactMatch UMLS:C4551950 ; biolink:category biolink:Disease . OMIM:601399 a owl:Class ; @@ -423350,11 +439921,11 @@ OMIM:601399 a owl:Class ; PMID:3855665, PMID:8652836, PMID:9746808 ; - oboInOwl:hasDbXref UMLS:C1832388 ; oboInOwl:hasExactSynonym "FPDMM", "platelet disorder, aspirin-like", "platelet disorder, familial, with associated myeloid malignancy", "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" ; + skos:exactMatch UMLS:C1832388 ; biolink:category biolink:Disease . OMIM:601407 a owl:Class ; @@ -423367,11 +439938,11 @@ OMIM:601407 a owl:Class ; PMID:9792550 ; RO:0002525 CHR:9606chr12q24.2 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1832387 ; oboInOwl:hasExactSynonym " iia 2 diabetes mellitus 2", "T2D2", "diabetes mellitus, noninsulin-dependent, 2", "noninsulin-dependent diabetes mellitus 2" ; + skos:exactMatch UMLS:C1832387 ; biolink:category biolink:Disease . OMIM:601412 a owl:Class ; @@ -423381,11 +439952,11 @@ OMIM:601412 a owl:Class ; PMID:23226461, PMID:29754270, PMID:8842739 ; - oboInOwl:hasDbXref UMLS:C1832379, - ORPHA:90635 ; oboInOwl:hasExactSynonym "DFNA7", "deafness, autosomal dominant 7" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1832379, + ORPHA:90635 ; biolink:category biolink:Disease . OMIM:601414 a owl:Class ; @@ -423394,10 +439965,10 @@ OMIM:601414 a owl:Class ; PMID:8842740, PMID:9600251, PMID:9733043 ; - oboInOwl:hasDbXref UMLS:C1832378 ; oboInOwl:hasExactSynonym "RP18", "retinitis pigmentosa 18" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1832378 ; biolink:category biolink:Disease . OMIM:601415 a owl:Class ; @@ -423408,14 +439979,15 @@ OMIM:601415 a owl:Class ; PMID:17671431, PMID:2065336, PMID:8812502 ; - oboInOwl:hasDbXref UMLS:C0812291 ; oboInOwl:hasExactSynonym "MYBL2", "myb protooncogene like 2", "myb-related gene bmyb", "v-myb avian myeloblastosis viral oncogene homolog-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4605 ; - skos:exactMatch HGNC_symbol:MYBL2 ; + skos:exactMatch UMLS:C0812291, + HGNC:7548, + HGNC_symbol:MYBL2 ; biolink:category biolink:Gene . OMIM:601434 a owl:Class ; @@ -423433,7 +440005,6 @@ OMIM:601434 a owl:Class ; PMID:8706131, PMID:9031623, PMID:9990852 ; - oboInOwl:hasDbXref UMLS:C1420081 ; oboInOwl:hasExactSynonym "SKP1", "cdk2/cyclin a-associated protein p19a", "organ of corti protein 2", @@ -423442,7 +440013,9 @@ OMIM:601434 a owl:Class ; "transcription elongation factor b, 1-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6500 ; - skos:exactMatch HGNC_symbol:SKP1 ; + skos:exactMatch UMLS:C1420081, + HGNC:10899, + HGNC_symbol:SKP1 ; biolink:category biolink:Gene . OMIM:601448 a owl:Class ; @@ -423453,13 +440026,14 @@ OMIM:601448 a owl:Class ; PMID:8923007, PMID:9205109, PMID:9472014 ; - oboInOwl:hasDbXref UMLS:C1417775 ; oboInOwl:hasExactSynonym "NPAT", "e14 gene", "nuclear protein, ataxia-telangiectasia locus" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4863 ; - skos:exactMatch HGNC_symbol:NPAT ; + skos:exactMatch UMLS:C1417775, + HGNC:7896, + HGNC_symbol:NPAT ; biolink:category biolink:Gene . OMIM:601454 a owl:Class ; @@ -423470,10 +440044,10 @@ OMIM:601454 a owl:Class ; PMID:9259283, PMID:9858851 ; RO:0002525 CHR:9606chr4q ; - oboInOwl:hasDbXref UMLS:C1832345 ; oboInOwl:hasExactSynonym "PSORS3", "psoriasis 3, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C1832345 ; biolink:category biolink:Disease . OMIM:601455 a owl:Class ; @@ -423486,7 +440060,6 @@ OMIM:601455 a owl:Class ; PMID:8841199, PMID:9549516, PMID:9631399 ; - oboInOwl:hasDbXref UMLS:C1832334 ; oboInOwl:hasExactSynonym "CMT4D", "charcot-marie-tooth disease, iia 4d", "charcot-marie-tooth disease, demyelinating, autosomal recessive, iia 4d", @@ -423494,6 +440067,7 @@ OMIM:601455 a owl:Class ; "hmsn4d", "neuropathy, hereditary motor and sensory, lom iia" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1832334 ; biolink:category biolink:Disease . OMIM:601458 a owl:Class ; @@ -423505,10 +440079,10 @@ OMIM:601458 a owl:Class ; PMID:8841195, PMID:9634527 ; RO:0002525 CHR:9606chr12p13.2-q24.1 ; - oboInOwl:hasDbXref UMLS:C1832321 ; oboInOwl:hasExactSynonym "IBD2", "inflammatory bowel disease 2" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C1832321 ; biolink:category biolink:Disease . OMIM:601464 a owl:Class ; @@ -423523,10 +440097,6 @@ OMIM:601464 a owl:Class ; PMID:8662235 ; RO:0002525 CHR:9606chr2q11.2 ; RO:0003303 OMIM:619297 ; - oboInOwl:hasDbXref UMLS:C1414749, - UMLS:C1708616, - UMLS:C1834585, - UMLS:C4017666 ; oboInOwl:hasExactSynonym "AFF3", "af4/fmr2 family, member 3", "fragile site 2q11", @@ -423536,7 +440106,12 @@ OMIM:601464 a owl:Class ; "mllt2-related protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3899 ; - skos:exactMatch HGNC_symbol:AFF3 ; + skos:exactMatch UMLS:C1414749, + UMLS:C1708616, + UMLS:C1834585, + UMLS:C4017666, + HGNC:6473, + HGNC_symbol:AFF3 ; biolink:category biolink:Gene . OMIM:601470 a owl:Class ; @@ -423561,7 +440136,6 @@ OMIM:601470 a owl:Class ; PMID:9390561 ; RO:0002525 CHR:9606chr3p22.2 ; RO:0003303 OMIM:609423 ; - oboInOwl:hasDbXref UMLS:C1439296 ; oboInOwl:hasExactSynonym "CX3CR1", "chemokine, cx3c motif, receptor 1", "fractalkine receptor cx3cr1", @@ -423569,7 +440143,9 @@ OMIM:601470 a owl:Class ; "g protein-coupled receptor v28" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1524 ; - skos:exactMatch HGNC_symbol:CX3CR1 ; + skos:exactMatch UMLS:C1439296, + HGNC:2558, + HGNC_symbol:CX3CR1 ; biolink:category biolink:Gene . OMIM:601494 a owl:Class ; @@ -423583,12 +440159,12 @@ OMIM:601494 a owl:Class ; PMID:8205619, PMID:8521556, PMID:8825069 ; - oboInOwl:hasDbXref UMLS:C1832243 ; oboInOwl:hasExactSynonym "CMD1D", "cardiomyopathy, dilated, 1d", "left ventricular noncompaction 6" ; rdfs:subClassOf OMIMPS:115200, OMIMPS:604169 ; + skos:exactMatch UMLS:C1832243 ; biolink:category biolink:Disease . OMIM:601495 a owl:Class ; @@ -423602,11 +440178,11 @@ OMIM:601495 a owl:Class ; PMID:8001127, PMID:8833898, PMID:8890099 ; - oboInOwl:hasDbXref UMLS:C3152144 ; oboInOwl:hasExactSynonym "AGM1", "agammaglobulinemia 1, autosomal recessive", "agammaglobulinemia, autosomal recessive, due to ighm defect" ; rdfs:subClassOf OMIMPS:601495 ; + skos:exactMatch UMLS:C3152144 ; biolink:category biolink:Disease . OMIM:601498 a owl:Class ; @@ -423629,11 +440205,6 @@ OMIM:601498 a owl:Class ; PMID:8940266 ; RO:0002525 CHR:9606chr6p21.1 ; RO:0003303 OMIM:614863 ; - oboInOwl:hasDbXref UMLS:C1418478, - UMLS:C3553936, - UMLS:C3553937, - UMLS:C4225267, - UMLS:C4693988 ; oboInOwl:hasExactSynonym "PEX6", "peroxin 6", "peroxisomal assembly factor 2", @@ -423641,7 +440212,13 @@ OMIM:601498 a owl:Class ; "peroxisome biogenesis factor 6" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5190 ; - skos:exactMatch HGNC_symbol:PEX6 ; + skos:exactMatch UMLS:C1418478, + UMLS:C3553936, + UMLS:C3553937, + UMLS:C4225267, + UMLS:C4693988, + HGNC:8859, + HGNC_symbol:PEX6 ; biolink:category biolink:Gene . OMIM:601499 a owl:Class ; @@ -423649,11 +440226,11 @@ OMIM:601499 a owl:Class ; IAO:0000142 PMID:3117999, PMID:8751862 ; RO:0002525 CHR:9606chr13q14 ; - oboInOwl:hasDbXref UMLS:C1832229 ; oboInOwl:hasExactSynonym "RIEG2", "axenfeld-rieger syndrome, iia 2", "rieger syndrome, iia 2" ; rdfs:subClassOf OMIMPS:180500 ; + skos:exactMatch UMLS:C1832229 ; biolink:category biolink:Disease . OMIM:601501 a owl:Class ; @@ -423674,14 +440251,15 @@ OMIM:601501 a owl:Class ; PMID:8678978 ; RO:0002525 CHR:9606chr16q11.2 ; RO:0003303 OMIM:614203 ; - oboInOwl:hasDbXref UMLS:C1422017 ; oboInOwl:hasExactSynonym "VPS35", "mem3, mouse, homolog of", "vacuolar protein sorting 35, yeast, homolog of", "vps35 retromer complex component" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55737 ; - skos:exactMatch HGNC_symbol:VPS35 ; + skos:exactMatch UMLS:C1422017, + HGNC:13487, + HGNC_symbol:VPS35 ; biolink:category biolink:Gene . OMIM:601518 a owl:Class ; @@ -423696,10 +440274,10 @@ OMIM:601518 a owl:Class ; PMID:9214675, PMID:9311739, PMID:9497242 ; - oboInOwl:hasDbXref UMLS:C4722327 ; oboInOwl:hasExactSynonym "HPC1", "prca1", "prostate cancer, hereditary, 1" ; + skos:exactMatch UMLS:C4722327 ; biolink:category biolink:Disease . OMIM:601531 a owl:Class ; @@ -423715,7 +440293,6 @@ OMIM:601531 a owl:Class ; PMID:8921391, PMID:9177352, PMID:9286708 ; - oboInOwl:hasDbXref UMLS:C1334350 ; oboInOwl:hasExactSynonym "LTB4R", "blt1", "chemokine receptor-like 1", @@ -423727,7 +440304,9 @@ OMIM:601531 a owl:Class ; "purinoceptor p2y7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1241 ; - skos:exactMatch HGNC_symbol:LTB4R ; + skos:exactMatch UMLS:C1334350, + HGNC:6713, + HGNC_symbol:LTB4R ; biolink:category biolink:Gene . OMIM:601536 a owl:Class ; @@ -423738,14 +440317,14 @@ OMIM:601536 a owl:Class ; PMID:16155570, PMID:17875913, PMID:18412118 ; - oboInOwl:hasDbXref UMLS:C1832215, - UMLS:C1832216, - ORPHA:69737, - ORPHA:69739 ; oboInOwl:hasExactSynonym "ABDS", "athabaskan brainstem dysgenesis syndrome", "bosley-salih-alorainy syndrome", "navajo brainstem syndrome" ; + skos:exactMatch UMLS:C1832215, + UMLS:C1832216, + ORPHA:69737, + ORPHA:69739 ; biolink:category biolink:Disease . OMIM:601539 a owl:Class ; @@ -423783,7 +440362,6 @@ OMIM:601539 a owl:Class ; PMID:9008417, PMID:9090374, PMID:9398847 ; - oboInOwl:hasDbXref UMLS:C0282527 ; oboInOwl:hasExactSynonym "PBD1B", "adrenoleukodystrophy, autosomal neonatal", "infantile phytanic acid storage disease", @@ -423792,6 +440370,7 @@ OMIM:601539 a owl:Class ; "peroxisome biogenesis disorder 1b", "refsum disease, infantile" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C0282527 ; biolink:category biolink:Disease . OMIM:601542 a owl:Class ; @@ -423845,7 +440424,6 @@ OMIM:601542 a owl:Class ; PMID:9708734 ; RO:0002525 CHR:9606chr4q25 ; RO:0003303 OMIM:180550 ; - oboInOwl:hasDbXref UMLS:C1418596 ; oboInOwl:hasExactSynonym "PITX2", "all1-responsive gene 1", "paired-like homeodomain transcription factor 2", @@ -423855,7 +440433,9 @@ OMIM:601542 a owl:Class ; "solurshin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5308 ; - skos:exactMatch HGNC_symbol:PITX2 ; + skos:exactMatch UMLS:C1418596, + HGNC:9005, + HGNC_symbol:PITX2 ; biolink:category biolink:Gene . OMIM:601543 a owl:Class ; @@ -423869,12 +440449,12 @@ OMIM:601543 a owl:Class ; PMID:9590290, PMID:9718342, PMID:9949200 ; - oboInOwl:hasDbXref UMLS:C1832187, - ORPHA:90635 ; oboInOwl:hasExactSynonym "DFNA12", "deafness, autosomal dominant 12", "deafness, autosomal dominant 8" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1832187, + ORPHA:90635 ; biolink:category biolink:Disease . OMIM:601545 a owl:Class ; @@ -423924,13 +440504,14 @@ OMIM:601545 a owl:Class ; PMID:9860301 ; RO:0002525 CHR:9606chr17p13.3 ; RO:0003303 OMIM:607432 ; - oboInOwl:hasDbXref UMLS:C1418245 ; oboInOwl:hasExactSynonym "PAFAH1B1", "lis1 gene", "platelet-activating factor acetylhydrolase, isoform 1b, alpha subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5048 ; - skos:exactMatch HGNC_symbol:PAFAH1B1 ; + skos:exactMatch UMLS:C1418245, + HGNC:8574, + HGNC_symbol:PAFAH1B1 ; biolink:category biolink:Gene . OMIM:601552 a owl:Class ; @@ -423940,12 +440521,12 @@ OMIM:601552 a owl:Class ; PMID:24768550, PMID:30194805, PMID:8749053 ; - oboInOwl:hasDbXref UMLS:C1832167 ; oboInOwl:hasExactSynonym "FDLAB", "ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism", "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs", "shawaf-traboulsi syndrome", "traboulsi syndrome" ; + skos:exactMatch UMLS:C1832167 ; biolink:category biolink:Disease . OMIM:601553 a owl:Class ; @@ -423955,10 +440536,10 @@ OMIM:601553 a owl:Class ; PMID:16650681, PMID:7230692, PMID:7648037 ; - oboInOwl:hasDbXref UMLS:C1832162 ; oboInOwl:hasExactSynonym "HJMD", "hypotrichosis with cone-rod dystrophy", "hypotrichosis, congenital, with juvenile macular dystrophy" ; + skos:exactMatch UMLS:C1832162 ; biolink:category biolink:Disease . OMIM:601559 a owl:Class ; @@ -423981,7 +440562,6 @@ OMIM:601559 a owl:Class ; PMID:9382147, PMID:9674905, PMID:9674906 ; - oboInOwl:hasDbXref UMLS:C0796176 ; oboInOwl:hasExactSynonym "STWS1", "schwartz-jampel syndrome, iia 2", "schwartz-jampel syndrome, neonatal", @@ -423990,6 +440570,7 @@ OMIM:601559 a owl:Class ; "stws", "sws" ; rdfs:subClassOf OMIMPS:601559 ; + skos:exactMatch UMLS:C0796176 ; biolink:category biolink:Disease . OMIM:601582 a owl:Class ; @@ -424013,14 +440594,15 @@ OMIM:601582 a owl:Class ; PMID:9531585, PMID:9620849, PMID:9736736 ; - oboInOwl:hasDbXref UMLS:C1416447 ; oboInOwl:hasExactSynonym "INPP5D", "inositol polyphosphate-5-phosphatase, 145-kd", "sh2-containing inositol phosphatase", "ship1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3635 ; - skos:exactMatch HGNC_symbol:INPP5D ; + skos:exactMatch UMLS:C1416447, + HGNC:6079, + HGNC_symbol:INPP5D ; biolink:category biolink:Gene . OMIM:601583 a owl:Class ; @@ -424032,12 +440614,12 @@ OMIM:601583 a owl:Class ; PMID:8938443, PMID:8946193, PMID:9690521 ; - oboInOwl:hasDbXref UMLS:C1832099, - ORPHA:654 ; oboInOwl:hasExactSynonym "WT5", "wilms tumor 5", "wilms tumor, susceptibility to" ; rdfs:subClassOf OMIMPS:194070 ; + skos:exactMatch UMLS:C1832099, + ORPHA:654 ; biolink:category biolink:Disease . OMIM:601606 a owl:Class ; @@ -424058,12 +440640,12 @@ OMIM:601606 a owl:Class ; PMID:8436650, PMID:9219004, PMID:974013 ; - oboInOwl:hasDbXref UMLS:C1275122 ; oboInOwl:hasExactSynonym "brooke-fordyce trichoepitheliomas", "epithelioma adenoides cysticum of brooke", "epithelioma, hereditary multiple benign cystic", "mft1", "trichoepithelioma, multiple familial, 1" ; + skos:exactMatch UMLS:C1275122 ; biolink:category biolink:Disease . OMIM:601625 a owl:Class ; @@ -424074,13 +440656,14 @@ OMIM:601625 a owl:Class ; PMID:7966280, PMID:8288246, PMID:8812442 ; - oboInOwl:hasDbXref UMLS:C1412562 ; oboInOwl:hasExactSynonym "ART1", "adp-ribosyltransferase 1", "art2, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:417 ; - skos:exactMatch HGNC_symbol:ART1 ; + skos:exactMatch UMLS:C1412562, + HGNC:723, + HGNC_symbol:ART1 ; biolink:category biolink:Gene . OMIM:601630 a owl:Class ; @@ -424096,11 +440679,11 @@ OMIM:601650 a owl:Class ; PMID:6286462, PMID:7814027, PMID:8388849 ; - oboInOwl:hasDbXref UMLS:C1866552 ; oboInOwl:hasExactSynonym "PGL2", "glomus tumors, familial, 2", "paragangliomas 2" ; rdfs:subClassOf OMIMPS:168000 ; + skos:exactMatch UMLS:C1866552 ; biolink:category biolink:Disease . OMIM:601659 a owl:Class ; @@ -424109,7 +440692,6 @@ OMIM:601659 a owl:Class ; PMID:8753807, PMID:8975701, PMID:9150728 ; - oboInOwl:hasDbXref UMLS:C1412958 ; oboInOwl:hasExactSynonym "GATD3A", "chromosome 21 open reading frame 33", "d21s2048e", @@ -424119,7 +440701,9 @@ OMIM:601659 a owl:Class ; "knpi" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8209 ; - skos:exactMatch HGNC_symbol:GATD3 ; + skos:exactMatch UMLS:C1412958, + HGNC:1273, + HGNC_symbol:GATD3 ; biolink:category biolink:Gene . OMIM:601666 a owl:Class ; @@ -424127,11 +440711,11 @@ OMIM:601666 a owl:Class ; IAO:0000142 PMID:11598829, PMID:8981961 ; RO:0002525 CHR:9606chr6q21 ; - oboInOwl:hasDbXref UMLS:C1866519 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 15", "T1D15", "diabetes mellitus, insulin-dependent, 15", "insulin-dependent diabetes mellitus 15" ; + skos:exactMatch UMLS:C1866519 ; biolink:category biolink:Disease . OMIM:601675 a owl:Class ; @@ -424160,8 +440744,6 @@ OMIM:601675 a owl:Class ; PMID:9195225, PMID:9758621, PMID:9764166 ; - oboInOwl:hasDbXref UMLS:C1866504, - UMLS:C1866505 ; oboInOwl:hasExactSynonym "TTD1", "ichthyosiform erythroderma with hair abnormality and mental and growth retardation", "pibids syndrome", @@ -424170,6 +440752,8 @@ OMIM:601675 a owl:Class ; "trichothiodystrophy with congenital ichthyosis", "trichothiodystrophy, photosensitive" ; rdfs:subClassOf OMIMPS:601675 ; + skos:exactMatch UMLS:C1866504, + UMLS:C1866505 ; biolink:category biolink:Disease . OMIM:601676 a owl:Class ; @@ -424177,9 +440761,9 @@ OMIM:601676 a owl:Class ; IAO:0000142 PMID:7698519, PMID:9027510 ; RO:0002525 CHR:9606chr1p31 ; - oboInOwl:hasDbXref UMLS:C1866503 ; oboInOwl:hasExactSynonym "acute insulin response", "air" ; + skos:exactMatch UMLS:C1866503 ; biolink:category biolink:Disease . OMIM:601678 a owl:Class ; @@ -424199,12 +440783,12 @@ OMIM:601678 a owl:Class ; PMID:9203176, PMID:9326936, PMID:9355073 ; - oboInOwl:hasDbXref UMLS:C1866495 ; oboInOwl:hasExactSynonym "BARTS1", "bartter syndrome, iia 1, antenatal", "hyperprostaglandin e syndrome 1", "hypokalemic alkalosis with hypercalciuria 1, antenatal" ; rdfs:subClassOf OMIMPS:601678 ; + skos:exactMatch UMLS:C1866495 ; biolink:category biolink:Disease . OMIM:601682 a owl:Class ; @@ -424214,9 +440798,9 @@ OMIM:601682 a owl:Class ; PMID:9004141, PMID:9012402 ; RO:0002525 CHR:9606chr3q21-q24 ; - oboInOwl:hasDbXref UMLS:C1866483 ; oboInOwl:hasExactSynonym "GLC1C", "glaucoma 1, primary open angle, c" ; + skos:exactMatch UMLS:C1866483 ; biolink:category biolink:Disease . OMIM:601694 a owl:Class ; @@ -424227,10 +440811,10 @@ OMIM:601694 a owl:Class ; PMID:8532024, PMID:9054940 ; RO:0002525 CHR:9606chr2p21 ; - oboInOwl:hasDbXref UMLS:C1866431 ; oboInOwl:hasExactSynonym "LEPQTL1", "leptin, serum level of, quantitative trait locus 1", "lsl" ; + skos:exactMatch UMLS:C1866431 ; biolink:category biolink:Disease . OMIM:601698 a owl:Class ; @@ -424242,7 +440826,6 @@ OMIM:601698 a owl:Class ; PMID:8878534, PMID:8954911, PMID:9657860 ; - oboInOwl:hasDbXref UMLS:C1419120 ; oboInOwl:hasExactSynonym "PTPRN2", "ia2-beta, mouse, homolog of", "icaar", @@ -424252,7 +440835,9 @@ OMIM:601698 a owl:Class ; "protein-tyrosine phosphatase, receptor-type, n, polypeptide 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5799 ; - skos:exactMatch HGNC_symbol:PTPRN2 ; + skos:exactMatch UMLS:C1419120, + HGNC:9677, + HGNC_symbol:PTPRN2 ; biolink:category biolink:Gene . OMIM:601712 a owl:Class ; @@ -424270,7 +440855,6 @@ OMIM:601712 a owl:Class ; PMID:8552191, PMID:8643514, PMID:8938457 ; - oboInOwl:hasDbXref UMLS:C1332414 ; oboInOwl:hasExactSynonym "BIRC2", "apoptosis inhibitor 1", "baculoviral iap repeat-containing protein 2", @@ -424279,7 +440863,9 @@ OMIM:601712 a owl:Class ; "mammalian iap homolog B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:329 ; - skos:exactMatch HGNC_symbol:BIRC2 ; + skos:exactMatch UMLS:C1332414, + HGNC:590, + HGNC_symbol:BIRC2 ; biolink:category biolink:Gene . OMIM:601714 a owl:Class ; @@ -424287,7 +440873,6 @@ OMIM:601714 a owl:Class ; IAO:0000142 PMID:8662936, PMID:8702974, PMID:8921372 ; - oboInOwl:hasDbXref UMLS:C1420682 ; oboInOwl:hasExactSynonym "TEAD4", "tea domain family member 4", "transcription factor 13-like 1", @@ -424295,7 +440880,9 @@ OMIM:601714 a owl:Class ; "transcriptional enhancer factor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7004 ; - skos:exactMatch HGNC_symbol:TEAD4 ; + skos:exactMatch UMLS:C1420682, + HGNC:11717, + HGNC_symbol:TEAD4 ; biolink:category biolink:Gene . OMIM:601728 a owl:Class ; @@ -424487,7 +441074,14 @@ OMIM:601728 a owl:Class ; PMID:9931326 ; RO:0002525 CHR:9606chr10q23.31 ; RO:0003303 OMIM:607174 ; - oboInOwl:hasDbXref UMLS:C0018553, + oboInOwl:hasExactSynonym "PTEN", + "mutated 1n multiple advanced cancers 1", + "phosphatase and tensin homolog", + "phosphatase and tensin homolog deleted on chromosome 10", + "pten1" ; + rdfs:subClassOf SO:0000704 ; + owl:equivalentClass NCBIGene:5728 ; + skos:exactMatch UMLS:C0018553, UMLS:C0025286, UMLS:C0391826, UMLS:C0476089, @@ -424498,15 +441092,9 @@ OMIM:601728 a owl:Class ; UMLS:C4015779, UMLS:C4015968, UMLS:C4016283, - UMLS:C4016742 ; - oboInOwl:hasExactSynonym "PTEN", - "mutated 1n multiple advanced cancers 1", - "phosphatase and tensin homolog", - "phosphatase and tensin homolog deleted on chromosome 10", - "pten1" ; - rdfs:subClassOf SO:0000704 ; - owl:equivalentClass NCBIGene:5728 ; - skos:exactMatch HGNC_symbol:PTEN ; + UMLS:C4016742, + HGNC:9588, + HGNC_symbol:PTEN ; biolink:category biolink:Gene . OMIM:601744 a owl:Class ; @@ -424518,11 +441106,11 @@ OMIM:601744 a owl:Class ; PMID:9045876, PMID:9502778, PMID:9843982 ; - oboInOwl:hasDbXref UMLS:C1864265, - UMLS:C1866373 ; oboInOwl:hasExactSynonym "SLEB1", "systemic lupus erythematosus, resistance to, 1", "systemic lupus erythematosus, susceptibility to, 1" ; + skos:exactMatch UMLS:C1864265, + UMLS:C1866373 ; biolink:category biolink:Disease . OMIM:601764 a owl:Class ; @@ -424537,11 +441125,11 @@ OMIM:601764 a owl:Class ; PMID:9147652 ; RO:0002525 CHR:9606chr19q ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C4551769 ; oboInOwl:hasExactSynonym "BFIS1", "convulsions, benign familial infantile, 1", "seizures, benign familial infantile, 1" ; rdfs:subClassOf OMIMPS:601764 ; + skos:exactMatch UMLS:C4551769 ; biolink:category biolink:Disease . OMIM:601770 a owl:Class ; @@ -424550,23 +441138,24 @@ OMIM:601770 a owl:Class ; PMID:8910373, PMID:9013614, PMID:9417917 ; - oboInOwl:hasDbXref UMLS:C1417819 ; oboInOwl:hasExactSynonym "NPY6R", "neuropeptide y receptor y6", "pp2", "y2b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4888 ; - skos:exactMatch HGNC_symbol:NPY6R ; + skos:exactMatch UMLS:C1417819, + HGNC:7959, + HGNC_symbol:NPY6R ; biolink:category biolink:Gene . OMIM:601775 a owl:Class ; rdfs:label "megaloblastic anemia, folate-responsive" ; IAO:0000142 PMID:9012417 ; - oboInOwl:hasDbXref UMLS:C1866295 ; oboInOwl:hasExactSynonym "MEGAF", "folate level 1n erythrocytes", "megaloblastic anemia, folate-responsive" ; + skos:exactMatch UMLS:C1866295 ; biolink:category biolink:Disease . OMIM:601777 a owl:Class ; @@ -424580,11 +441169,11 @@ OMIM:601777 a owl:Class ; PMID:9097965, PMID:9618177, PMID:9683616 ; - oboInOwl:hasDbXref UMLS:C1866293 ; oboInOwl:hasExactSynonym "CORD6", "cone-rod dystrophy 6", "retinal cone dystrophy 2" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1866293 ; biolink:category biolink:Disease . OMIM:601784 a owl:Class ; @@ -424597,7 +441186,6 @@ OMIM:601784 a owl:Class ; PMID:8631835, PMID:8921408, PMID:9037075 ; - oboInOwl:hasDbXref UMLS:C1412114 ; oboInOwl:hasExactSynonym "ASIC2", "acid-sensing ion channel, subunit 2", "bnc1", @@ -424607,7 +441195,9 @@ OMIM:601784 a owl:Class ; "sodium channel, nonvoltage-gated, neuronal, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:40 ; - skos:exactMatch HGNC_symbol:ASIC2 ; + skos:exactMatch UMLS:C1412114, + HGNC:99, + HGNC_symbol:ASIC2 ; biolink:category biolink:Gene . OMIM:601792 a owl:Class ; @@ -424620,13 +441210,14 @@ OMIM:601792 a owl:Class ; PMID:8119416, PMID:8721777, PMID:9126490 ; - oboInOwl:hasDbXref UMLS:C1418826 ; oboInOwl:hasExactSynonym "PPP1R2", "phosphatase inhibitor 2", "protein phosphatase 1, regulatory subunit 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5504 ; - skos:exactMatch HGNC_symbol:PPP1R2 ; + skos:exactMatch UMLS:C1418826, + HGNC:9288, + HGNC_symbol:PPP1R2 ; biolink:category biolink:Gene . OMIM:601800 a owl:Class ; @@ -424642,8 +441233,6 @@ OMIM:601800 a owl:Class ; PMID:19578364, PMID:3568446, PMID:9453695 ; - oboInOwl:hasDbXref UMLS:C2677190, - UMLS:C3152204 ; oboInOwl:hasExactSynonym "SHEP3", "eye color 1", "eye color, green/blue", @@ -424653,6 +441242,8 @@ OMIM:601800 a owl:Class ; "skin/hair/eye pigmentation 3, light/dark skin", "skin/hair/eye pigmentation, variation in, 3" ; rdfs:subClassOf OMIMPS:227220 ; + skos:exactMatch UMLS:C2677190, + UMLS:C3152204 ; biolink:category biolink:Disease . OMIM:601802 a owl:Class ; @@ -424670,14 +441261,15 @@ OMIM:601802 a owl:Class ; PMID:9620767 ; RO:0002525 CHR:9606chr3p14.3 ; RO:0003303 OMIM:182230 ; - oboInOwl:hasDbXref UMLS:C1415521 ; oboInOwl:hasExactSynonym "HESX1", "hesx homeobox 1", "homeobox gene expressed 1n es cells", "rathke pouch homeobox" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8820 ; - skos:exactMatch HGNC_symbol:HESX1 ; + skos:exactMatch UMLS:C1415521, + HGNC:4877, + HGNC_symbol:HESX1 ; biolink:category biolink:Gene . OMIM:601805 a owl:Class ; @@ -424689,7 +441281,6 @@ OMIM:601805 a owl:Class ; PMID:9141481, PMID:9367686, PMID:9398636 ; - oboInOwl:hasDbXref UMLS:C1415223 ; oboInOwl:hasExactSynonym "GPER1", "chemokine receptor-like 2", "g protein-coupled estrogen receptor 1", @@ -424697,7 +441288,9 @@ OMIM:601805 a owl:Class ; "gper" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2852 ; - skos:exactMatch HGNC_symbol:GPER1 ; + skos:exactMatch UMLS:C1415223, + HGNC:4485, + HGNC_symbol:GPER1 ; biolink:category biolink:Gene . OMIM:601807 a owl:Class ; @@ -424708,13 +441301,14 @@ OMIM:601807 a owl:Class ; PMID:9020145 ; RO:0002525 CHR:9606chr12q13.2 ; RO:0003303 OMIM:611543 ; - oboInOwl:hasDbXref UMLS:C1417207 ; oboInOwl:hasExactSynonym "MMP19", "matrix metalloproteinase 18, formerly", "matrix metalloproteinase 19" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4327 ; - skos:exactMatch HGNC_symbol:MMP19 ; + skos:exactMatch UMLS:C1417207, + HGNC:7165, + HGNC_symbol:MMP19 ; biolink:category biolink:Gene . OMIM:601812 a owl:Class ; @@ -424722,10 +441316,10 @@ OMIM:601812 a owl:Class ; IAO:0000142 PMID:23720404, PMID:26279204, PMID:9056558 ; - oboInOwl:hasDbXref UMLS:C1866182 ; oboInOwl:hasExactSynonym "PENTT", "penttinen syndrome", "premature aging syndrome, penttinen iia" ; + skos:exactMatch UMLS:C1866182 ; biolink:category biolink:Disease . OMIM:601815 a owl:Class ; @@ -424738,20 +441332,20 @@ OMIM:601815 a owl:Class ; PMID:28135894, PMID:29269105, PMID:8758134 ; - oboInOwl:hasDbXref UMLS:C1866174, - ORPHA:79351 ; oboInOwl:hasExactSynonym "PHGDHD", "phgdh deficiency", "phosphoglycerate dehydrogenase deficiency" ; + skos:exactMatch UMLS:C1866174, + ORPHA:79351 ; biolink:category biolink:Disease . OMIM:601846 a owl:Class ; rdfs:label "vacuolar neuromyopathy" ; IAO:0000142 PMID:15236412 ; RO:0002525 CHR:9606chr19p13.3 ; - oboInOwl:hasDbXref UMLS:C1866139 ; oboInOwl:hasExactSynonym "muscular dystrophy, autosomal dominant, with rimmed vacuoles", "vacuolar neuromyopathy" ; + skos:exactMatch UMLS:C1866139 ; biolink:category biolink:Disease . OMIM:601847 a owl:Class ; @@ -424762,12 +441356,12 @@ OMIM:601847 a owl:Class ; PMID:9272158, PMID:9326328, PMID:9806540 ; - oboInOwl:hasDbXref UMLS:C3489789, - ORPHA:172, - ORPHA:79304 ; oboInOwl:hasExactSynonym "PFIC2", "cholestasis, progressive familial intrahepatic, 2" ; rdfs:subClassOf OMIMPS:211600 ; + skos:exactMatch UMLS:C3489789, + ORPHA:172, + ORPHA:79304 ; biolink:category biolink:Disease . OMIM:601859 a owl:Class ; @@ -424792,10 +441386,6 @@ OMIM:601859 a owl:Class ; PMID:9148156, PMID:9609991, PMID:9787134 ; - oboInOwl:hasDbXref UMLS:C1328840, - UMLS:C1866119, - UMLS:C1866120, - UMLS:C1866121 ; oboInOwl:hasExactSynonym "ALPS", "autoimmune lymphoproliferative syndrome", "autoimmune lymphoproliferative syndrome, iia 1a", @@ -424803,6 +441393,10 @@ OMIM:601859 a owl:Class ; "autoimmune lymphoproliferative syndrome, iia i, autosomal dominant", "autoimmune lymphoproliferative syndrome, iia i, autosomal recessive", "canale-smith syndrome" ; + skos:exactMatch UMLS:C1328840, + UMLS:C1866119, + UMLS:C1866120, + UMLS:C1866121 ; biolink:category biolink:Disease . OMIM:601877 a owl:Class ; @@ -424815,8 +441409,6 @@ OMIM:601877 a owl:Class ; PMID:8610011, PMID:9153275, PMID:9348041 ; - oboInOwl:hasDbXref UMLS:C1537561, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "LEFTY2", "endometrial bleeding-associated factor", "left-right determination factor 2", @@ -424826,7 +441418,10 @@ OMIM:601877 a owl:Class ; "transforming growth factor, beta-4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7044 ; - skos:exactMatch HGNC_symbol:LEFTY2 ; + skos:exactMatch UMLS:C1537561, + UMLS:C4015968, + HGNC:3122, + HGNC_symbol:LEFTY2 ; biolink:category biolink:Gene . OMIM:601880 a owl:Class ; @@ -424845,7 +441440,6 @@ OMIM:601880 a owl:Class ; PMID:9177350, PMID:9390561, PMID:9691168 ; - oboInOwl:hasDbXref UMLS:C1332814 ; oboInOwl:hasExactSynonym "CX3CL1", "chemokine, cx3c motif, ligand 1", "fractalkine", @@ -424853,7 +441447,9 @@ OMIM:601880 a owl:Class ; "small inducible cytokine subfamily d, member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6376 ; - skos:exactMatch HGNC_symbol:CX3CL1 ; + skos:exactMatch UMLS:C1332814, + HGNC:10647, + HGNC_symbol:CX3CL1 ; biolink:category biolink:Gene . OMIM:601885 a owl:Class ; @@ -424868,23 +441464,23 @@ OMIM:601885 a owl:Class ; PMID:22876138, PMID:9199569, PMID:9497271 ; - oboInOwl:hasDbXref UMLS:C1866078, - ORPHA:91492 ; oboInOwl:hasExactSynonym "CTRCT14", "cae3", "cataract 14, multiple types", "cataract, zonular pulverulent 3" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1866078, + ORPHA:91492 ; biolink:category biolink:Disease . OMIM:601888 a owl:Class ; rdfs:label "malignant hyperthermia, susceptibility to, 6" ; IAO:0000142 PMID:9175745 ; RO:0002525 CHR:9606chr5p ; - oboInOwl:hasDbXref UMLS:C1866076 ; oboInOwl:hasExactSynonym "malignant hyperthermia, susceptibility to, 6", "mhs6" ; rdfs:subClassOf OMIMPS:145600 ; + skos:exactMatch UMLS:C1866076 ; biolink:category biolink:Disease . OMIM:601900 a owl:Class ; @@ -424910,14 +441506,15 @@ OMIM:601900 a owl:Class ; PMID:9326949 ; RO:0002525 CHR:9606chr6p25.3 ; RO:0003303 OMIM:611724 ; - oboInOwl:hasDbXref UMLS:C0812314 ; oboInOwl:hasExactSynonym "IRF4", "interferon regulatory factor 4", "lymphocyte-specific irf", "multiple myeloma oncogene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3662 ; - skos:exactMatch HGNC_symbol:IRF4 ; + skos:exactMatch UMLS:C0812314, + HGNC:6119, + HGNC_symbol:IRF4 ; biolink:category biolink:Gene . OMIM:601941 a owl:Class ; @@ -424926,13 +441523,13 @@ OMIM:601941 a owl:Class ; PMID:6117683, PMID:9215667 ; RO:0002525 CHR:9606chr18q21 ; - oboInOwl:hasDbXref UMLS:C1866041, - UMLS:C2748621 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 6", "T1D6", "autoimmune thyroid disease, susceptibility to, 5", "diabetes mellitus, insulin-dependent, 6", "insulin-dependent diabetes mellitus 6" ; + skos:exactMatch UMLS:C1866041, + UMLS:C2748621 ; biolink:category biolink:Disease . OMIM:601942 a owl:Class ; @@ -424941,11 +441538,11 @@ OMIM:601942 a owl:Class ; PMID:17676041, PMID:8072542, PMID:9215668 ; - oboInOwl:hasDbXref UMLS:C1866040 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 10", "T1D10", "diabetes mellitus, insulin-dependent, 10", "insulin-dependent diabetes mellitus 10" ; + skos:exactMatch UMLS:C1866040 ; biolink:category biolink:Disease . OMIM:601954 a owl:Class ; @@ -424955,11 +441552,11 @@ OMIM:601954 a owl:Class ; PMID:20233748, PMID:30055862, PMID:9245996 ; - oboInOwl:hasDbXref UMLS:C1866008 ; oboInOwl:hasExactSynonym "LGMDR7", "muscular dystrophy, limb-girdle, iia 2g", "muscular dystrophy, limb-girdle, autosomal recessive 7" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C1866008 ; biolink:category biolink:Disease . OMIM:601984 a owl:Class ; @@ -424972,8 +441569,6 @@ OMIM:601984 a owl:Class ; PMID:8290261, PMID:8643607, PMID:9192845 ; - oboInOwl:hasDbXref UMLS:C0812260, - UMLS:C1865984 ; oboInOwl:hasExactSynonym "NCOA4", "androgen receptor coactivator, 70-kd", "nuclear receptor coactivator 4", @@ -424981,7 +441576,10 @@ OMIM:601984 a owl:Class ; "ret-activating gene ele1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8031 ; - skos:exactMatch HGNC_symbol:NCOA4 ; + skos:exactMatch UMLS:C0812260, + UMLS:C1865984, + HGNC:7671, + HGNC_symbol:NCOA4 ; biolink:category biolink:Gene . OMIM:601992 a owl:Class ; @@ -424991,18 +441589,18 @@ OMIM:601992 a owl:Class ; PMID:11523563, PMID:8641704 ; RO:0002525 CHR:9606chr9p23-p11 ; - oboInOwl:hasDbXref UMLS:C1865981 ; oboInOwl:hasExactSynonym "FRDA2", "friedreich ataxia 2" ; + skos:exactMatch UMLS:C1865981 ; biolink:category biolink:Disease . OMIM:602011 a owl:Class ; rdfs:label "suppressor of tumorigenicity 11" ; IAO:0000142 PMID:9218518 ; - oboInOwl:hasDbXref UMLS:C1420440 ; oboInOwl:hasExactSynonym "ST11", "pancreatic endocrine tumor suppressor 1", - "suppressor of tumorigenicity 11" . + "suppressor of tumorigenicity 11" ; + skos:exactMatch UMLS:C1420440 . OMIM:602022 a owl:Class ; rdfs:label "MALL" ; @@ -425011,13 +441609,14 @@ OMIM:602022 a owl:Class ; PMID:8852662, PMID:9326933, PMID:9361039 ; - oboInOwl:hasDbXref UMLS:C1416990 ; oboInOwl:hasExactSynonym "MALL", "bene protein", "mal-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7851 ; - skos:exactMatch HGNC_symbol:MALL ; + skos:exactMatch UMLS:C1416990, + HGNC:6818, + HGNC_symbol:MALL ; biolink:category biolink:Gene . OMIM:602025 a owl:Class ; @@ -425033,10 +441632,10 @@ OMIM:602025 a owl:Class ; PMID:21047972, PMID:9276742, PMID:9915959 ; - oboInOwl:hasDbXref UMLS:C2677162 ; oboInOwl:hasExactSynonym "BMIQ9", "body mass index quantitative trait locus 9", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C2677162 ; biolink:category biolink:Disease . OMIM:602026 a owl:Class ; @@ -425055,14 +441654,15 @@ OMIM:602026 a owl:Class ; PMID:9326940 ; RO:0002525 CHR:9606chr10p13 ; RO:0003303 OMIM:266500 ; - oboInOwl:hasDbXref UMLS:C1418543 ; oboInOwl:hasExactSynonym "PHYH", "lnap1, mouse, homolog of", "pahx", "phytanoyl-coa hydroxylase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5264 ; - skos:exactMatch HGNC_symbol:PHYH ; + skos:exactMatch UMLS:C1418543, + HGNC:8940, + HGNC_symbol:PHYH ; biolink:category biolink:Gene . OMIM:602032 a owl:Class ; @@ -425070,11 +441670,11 @@ OMIM:602032 a owl:Class ; IAO:0000142 PMID:16525032, PMID:1879585, PMID:19865094 ; - oboInOwl:hasDbXref UMLS:C1865951 ; oboInOwl:hasExactSynonym "ECTD4", "ectodermal dysplasia 4, hair/nail iia", "ectodermal dysplasia, 'pure' hair/nail iia" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C1865951 ; biolink:category biolink:Disease . OMIM:602055 a owl:Class ; @@ -425090,25 +441690,26 @@ OMIM:602055 a owl:Class ; PMID:32322062, PMID:7686911, PMID:9268630 ; - oboInOwl:hasDbXref UMLS:C1416450 ; oboInOwl:hasExactSynonym "INSIG1", "cl6, rat, homolog of", "insulin-induced gene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3638 ; - skos:exactMatch HGNC_symbol:INSIG1 ; + skos:exactMatch UMLS:C1416450, + HGNC:6083, + HGNC_symbol:INSIG1 ; biolink:category biolink:Gene . OMIM:602078 a owl:Class ; rdfs:label "fibrosis of extraocular muscles, congenital, 2" ; IAO:0000142 PMID:11600883, PMID:9683611 ; - oboInOwl:hasDbXref UMLS:C1865915 ; oboInOwl:hasExactSynonym "CFEOM2", "feom2 locus", "fibrosis of extraocular muscles, congenital, 2", "fibrosis of extraocular muscles, congenital, autosomal recessive" ; rdfs:subClassOf OMIMPS:135700 ; + skos:exactMatch UMLS:C1865915 ; biolink:category biolink:Disease . OMIM:602079 a owl:Class ; @@ -425128,11 +441729,11 @@ OMIM:602079 a owl:Class ; PMID:9846928, PMID:987531, PMID:987532 ; - oboInOwl:hasDbXref UMLS:C0342739, - ORPHA:468726 ; oboInOwl:hasExactSynonym "TMAU", "fish-odor syndrome", "trimethylaminuria" ; + skos:exactMatch UMLS:C0342739, + ORPHA:468726 ; biolink:category biolink:Disease . OMIM:602083 a owl:Class ; @@ -425141,32 +441742,32 @@ OMIM:602083 a owl:Class ; PMID:17653769, PMID:18719945, PMID:20097680 ; - oboInOwl:hasDbXref UMLS:C1865885 ; oboInOwl:hasExactSynonym "USH1F", "usher syndrome, iia 1f" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C1865885 ; biolink:category biolink:Disease . OMIM:602085 a owl:Class ; rdfs:label "polydactyly, postaxial, iia a2" ; IAO:0000142 PMID:19941983 ; RO:0002525 CHR:9606chr13q21-q32 ; - oboInOwl:hasDbXref UMLS:C1865883 ; oboInOwl:hasExactSynonym "PAPA2", "polydactyly, postaxial, iia a2", "postaxial polydactyly, iia a2" ; rdfs:subClassOf OMIMPS:174200 ; + skos:exactMatch UMLS:C1865883 ; biolink:category biolink:Disease . OMIM:602086 a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia, familial, 3" ; IAO:0000142 PMID:8824801 ; RO:0002525 CHR:9606chr14q12-q22 ; - oboInOwl:hasDbXref UMLS:C1865882 ; oboInOwl:hasExactSynonym "ARVD3", "arrhythmogenic right ventricular cardiomyopathy 3", "arrhythmogenic right ventricular dysplasia, familial, 3" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1865882 ; biolink:category biolink:Disease . OMIM:602087 a owl:Class ; @@ -425175,11 +441776,11 @@ OMIM:602087 a owl:Class ; PMID:8325094, PMID:9344647 ; RO:0002525 CHR:9606chr2q32.1-q32.3 ; - oboInOwl:hasDbXref UMLS:C1865881 ; oboInOwl:hasExactSynonym "ARVD4", "arrhythmogenic right ventricular cardiomyopathy 4", "arrhythmogenic right ventricular dysplasia, familial, 4" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1865881 ; biolink:category biolink:Disease . OMIM:602088 a owl:Class ; @@ -425189,11 +441790,11 @@ OMIM:602088 a owl:Class ; PMID:2702088, PMID:2884728, PMID:9792867 ; - oboInOwl:hasDbXref UMLS:C1865872 ; oboInOwl:hasExactSynonym "NPHP2", "nephronophthisis 2", "nph2" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C1865872 ; biolink:category biolink:Disease . OMIM:602093 a owl:Class ; @@ -425206,12 +441807,12 @@ OMIM:602093 a owl:Class ; PMID:24024198, PMID:28125083, PMID:9425234 ; - oboInOwl:hasDbXref UMLS:C1865869 ; oboInOwl:hasExactSynonym "COD3", "cone dystrophy 3", "cone-rod dystrophy 14", "retinal cone dystrophy" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1865869 ; biolink:category biolink:Disease . OMIM:602096 a owl:Class ; @@ -425225,20 +441826,20 @@ OMIM:602096 a owl:Class ; PMID:9718052, PMID:9718053 ; RO:0002525 CHR:9606chr12p11.23-q13.12 ; - oboInOwl:hasDbXref UMLS:C1865868 ; oboInOwl:hasExactSynonym "ad5", "alzheimer disease 5", "alzheimer disease, familial, 5" ; + skos:exactMatch UMLS:C1865868 ; biolink:category biolink:Disease . OMIM:602097 a owl:Class ; rdfs:label "usher syndrome, iia 1e" ; IAO:0000142 PMID:9002666 ; RO:0002525 CHR:9606chr21q21 ; - oboInOwl:hasDbXref UMLS:C1865865 ; oboInOwl:hasExactSynonym "USH1E", "usher syndrome, iia 1e" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C1865865 ; biolink:category biolink:Disease . OMIM:602111 a owl:Class ; @@ -425251,14 +441852,14 @@ OMIM:602111 a owl:Class ; PMID:8412645, PMID:9258750, PMID:9916842 ; - oboInOwl:hasDbXref UMLS:C1865832, - UMLS:C2748495, - ORPHA:1040, - ORPHA:93356 ; oboInOwl:hasExactSynonym "SEMDM", "metaphyseal anadysplasia 1", "semd, missouri iia", "spondyloepimetaphyseal dysplasia, missouri iia" ; + skos:exactMatch UMLS:C1865832, + UMLS:C2748495, + ORPHA:1040, + ORPHA:93356 ; biolink:category biolink:Disease . OMIM:602124 a owl:Class ; @@ -425269,13 +441870,13 @@ OMIM:602124 a owl:Class ; PMID:9342206, PMID:9837831 ; RO:0002525 CHR:9606chr18p ; - oboInOwl:hasDbXref UMLS:C1865818, - UMLS:C1865819 ; oboInOwl:hasExactSynonym "DYT7", "cervical dystonia, primary", "dystonia 7, torsion", "torsion dystonia, focal adult-onset" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1865818, + UMLS:C1865819 ; biolink:category biolink:Disease . OMIM:602132 a owl:Class ; @@ -425285,7 +441886,6 @@ OMIM:602132 a owl:Class ; PMID:12839582, PMID:15183315, PMID:9356211 ; - oboInOwl:hasDbXref UMLS:C1425512 ; oboInOwl:hasExactSynonym "MIA2", "cutaneous t-cell lymphoma-associated antigen 5", "melanoma inhibitory activity protein 2", @@ -425294,7 +441894,9 @@ OMIM:602132 a owl:Class ; "mia sh3 domain er export factor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4253 ; - skos:exactMatch HGNC_symbol:MIA2 ; + skos:exactMatch UMLS:C1425512, + HGNC:18432, + HGNC_symbol:MIA2 ; biolink:category biolink:Gene . OMIM:602134 a owl:Class ; @@ -425307,10 +441909,10 @@ OMIM:602134 a owl:Class ; PMID:9827627 ; RO:0002525 CHR:9606chr2p25-p22 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1865810 ; oboInOwl:hasExactSynonym "ETM2", "tremor, hereditary essential, 2" ; rdfs:subClassOf OMIMPS:190300 ; + skos:exactMatch UMLS:C1865810 ; biolink:category biolink:Disease . OMIM:602162 a owl:Class ; @@ -425320,21 +441922,22 @@ OMIM:602162 a owl:Class ; PMID:17403776, PMID:9119375, PMID:9371398 ; - oboInOwl:hasDbXref UMLS:C1420537 ; oboInOwl:hasExactSynonym "SYCP1", "scp1", "synaptonemal complex protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6847 ; - skos:exactMatch HGNC_symbol:SYCP1 ; + skos:exactMatch UMLS:C1420537, + HGNC:11487, + HGNC_symbol:SYCP1 ; biolink:category biolink:Gene . OMIM:602197 a owl:Class ; rdfs:label "cerebellar degeneration-related autoantigen 3" ; IAO:0000142 PMID:9344654 ; - oboInOwl:hasDbXref UMLS:C1865782 ; oboInOwl:hasExactSynonym "cdr3", - "cerebellar degeneration-related autoantigen 3" . + "cerebellar degeneration-related autoantigen 3" ; + skos:exactMatch UMLS:C1865782 . OMIM:602221 a owl:Class ; rdfs:label "ZMYM2" ; @@ -425350,8 +441953,6 @@ OMIM:602221 a owl:Class ; PMID:9889006 ; RO:0002525 CHR:9606chr13q12.11 ; RO:0003303 OMIM:619522 ; - oboInOwl:hasDbXref UMLS:C1823958, - UMLS:C1865737 ; oboInOwl:hasExactSynonym "ZMYM2", "fused 1n myeloproliferative disorders", "rearranged 1n atypical myeloproliferative disorder", @@ -425360,7 +441961,10 @@ OMIM:602221 a owl:Class ; "znf198/fgfr1 fusion gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7750 ; - skos:exactMatch HGNC_symbol:ZMYM2 ; + skos:exactMatch UMLS:C1823958, + UMLS:C1865737, + HGNC:12989, + HGNC_symbol:ZMYM2 ; biolink:category biolink:Gene . OMIM:602229 a owl:Class ; @@ -425416,18 +442020,19 @@ OMIM:602229 a owl:Class ; PMID:9760192 ; RO:0002525 CHR:9606chr22q13.1 ; RO:0003303 OMIM:613266 ; - oboInOwl:hasDbXref UMLS:C1420317, - UMLS:C1836727, - UMLS:C2748472, - UMLS:C2750452, - UMLS:C4016778 ; oboInOwl:hasExactSynonym "SOX10", "dominant megacolon, mouse, homolog of", "sry-box 10", "sry-related hmg-box gene 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6663 ; - skos:exactMatch HGNC_symbol:SOX10 ; + skos:exactMatch UMLS:C1420317, + UMLS:C1836727, + UMLS:C2748472, + UMLS:C2750452, + UMLS:C4016778, + HGNC:11190, + HGNC_symbol:SOX10 ; biolink:category biolink:Gene . OMIM:602271 a owl:Class ; @@ -425442,12 +442047,12 @@ OMIM:602271 a owl:Class ; PMID:27548899, PMID:28422394, PMID:9266195 ; - oboInOwl:hasDbXref UMLS:C1865695 ; oboInOwl:hasExactSynonym "SMDAX", "axial smd", "smd, axial", "spondylometaphyseal dysplasia, axial" ; rdfs:subClassOf OMIMPS:184255 ; + skos:exactMatch UMLS:C1865695 ; biolink:category biolink:Disease . OMIM:602281 a owl:Class ; @@ -425466,7 +442071,6 @@ OMIM:602281 a owl:Class ; PMID:9101712, PMID:9260929, PMID:9546740 ; - oboInOwl:hasDbXref UMLS:C1334502 ; oboInOwl:hasExactSynonym "MFGE8", "lactadherin", "medin", @@ -425476,7 +442080,9 @@ OMIM:602281 a owl:Class ; "sperm-associated antigen 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4240 ; - skos:exactMatch HGNC_symbol:MFGE8 ; + skos:exactMatch UMLS:C1334502, + HGNC:7036, + HGNC_symbol:MFGE8 ; biolink:category biolink:Gene . OMIM:602323 a owl:Class ; @@ -425486,14 +442092,15 @@ OMIM:602323 a owl:Class ; PMID:7859381, PMID:9027495, PMID:9533018 ; - oboInOwl:hasDbXref UMLS:C1416579 ; oboInOwl:hasExactSynonym "KCNJ12", "inwardly rectifying potassium channel kir2.2", "potassium channel, inwardly rectifying, subfamily j, inhibitor 1", "potassium channel, inwardly rectifying, subfamily j, member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3768 ; - skos:exactMatch HGNC_symbol:KCNJ12 ; + skos:exactMatch UMLS:C1416579, + HGNC:6258, + HGNC_symbol:KCNJ12 ; biolink:category biolink:Gene . OMIM:602342 a owl:Class ; @@ -425505,10 +442112,10 @@ OMIM:602342 a owl:Class ; PMID:30365874, PMID:7640861, PMID:9450851 ; - oboInOwl:hasDbXref UMLS:C1865644 ; oboInOwl:hasExactSynonym "PRPTS", "pierpont syndrome", "plantar lipomatosis, unusual facies, and developmental delay" ; + skos:exactMatch UMLS:C1865644 ; biolink:category biolink:Disease . OMIM:602390 a owl:Class ; @@ -425531,13 +442138,13 @@ OMIM:602390 a owl:Class ; PMID:758139, PMID:9450181, PMID:9763590 ; - oboInOwl:hasDbXref UMLS:C0268060, - UMLS:C1865614 ; oboInOwl:hasExactSynonym "HFE2A", "hemochromatosis, iia 2", "hemochromatosis, iia 2a", "hemochromatosis, juvenile" ; rdfs:subClassOf OMIMPS:235200 ; + skos:exactMatch UMLS:C0268060, + UMLS:C1865614 ; biolink:category biolink:Disease . OMIM:602398 a owl:Class ; @@ -425549,8 +442156,8 @@ OMIM:602398 a owl:Class ; PMID:21671375, PMID:8824192, PMID:9450875 ; - oboInOwl:hasDbXref UMLS:C1865596 ; oboInOwl:hasExactSynonym "desmosterolosis" ; + skos:exactMatch UMLS:C1865596 ; biolink:category biolink:Disease . OMIM:602401 a owl:Class ; @@ -425559,10 +442166,10 @@ OMIM:602401 a owl:Class ; PMID:856958, PMID:9450885 ; RO:0002525 CHR:9606chr18q22.1-q22.3 ; - oboInOwl:hasDbXref UMLS:C3551424 ; oboInOwl:hasExactSynonym "ECTD8", "ectodermal dysplasia 8, hair/tooth/nail iia" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C3551424 ; biolink:category biolink:Disease . OMIM:602404 a owl:Class ; @@ -425577,11 +442184,11 @@ OMIM:602404 a owl:Class ; PMID:8615142, PMID:9500549 ; RO:0002525 CHR:9606chr2p13 ; - oboInOwl:hasDbXref UMLS:C1865581 ; oboInOwl:hasExactSynonym "PARK3", "parkinson disease 3, autosomal dominant", "parkinson disease 3, autosomal dominant lewy body" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1865581 ; biolink:category biolink:Disease . OMIM:602413 a owl:Class ; @@ -425605,14 +442212,15 @@ OMIM:602413 a owl:Class ; PMID:9716135 ; RO:0002525 CHR:9606chr1q23.3 ; RO:0003303 OMIM:605373 ; - oboInOwl:hasDbXref UMLS:C1419908 ; oboInOwl:hasExactSynonym "SDHC", "succinate dehydrogenase 3, integral membrane subunit", "succinate dehydrogenase complex, subunit c, integral membrane protein, 15-kd", "succinate dehydrogenase cytochrome B" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6391 ; - skos:exactMatch HGNC_symbol:SDHC ; + skos:exactMatch UMLS:C1419908, + HGNC:10682, + HGNC_symbol:SDHC ; biolink:category biolink:Gene . OMIM:602414 a owl:Class ; @@ -425631,7 +442239,6 @@ OMIM:602414 a owl:Class ; PMID:9395480, PMID:9585438, PMID:9753324 ; - oboInOwl:hasDbXref UMLS:C1412456 ; oboInOwl:hasExactSynonym "APBA1", "amyloid beta a4 precursor protein-binding, family a, member 1", "d9s411e", @@ -425641,17 +442248,19 @@ OMIM:602414 a owl:Class ; "x11-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:320 ; - skos:exactMatch HGNC_symbol:APBA1 ; + skos:exactMatch UMLS:C1412456, + HGNC:578, + HGNC_symbol:APBA1 ; biolink:category biolink:Gene . OMIM:602429 a owl:Class ; rdfs:label "glaucoma 1, open angle, d" ; IAO:0000142 PMID:9683145 ; RO:0002525 CHR:9606chr8q23 ; - oboInOwl:hasDbXref UMLS:C1865427 ; oboInOwl:hasExactSynonym "GLC1D", "glaucoma 1, open angle, d", "glaucoma, primary open angle, adult-onset" ; + skos:exactMatch UMLS:C1865427 ; biolink:category biolink:Disease . OMIM:602450 a owl:Class ; @@ -425671,16 +442280,16 @@ OMIM:602450 a owl:Class ; PMID:8450050, PMID:9443881, PMID:9705945 ; - oboInOwl:hasDbXref UMLS:C1865370, - UMLS:C1865371, - UMLS:C1865372, - UMLS:C1865373 ; oboInOwl:hasExactSynonym "athabaskan severe combined immunodeficiency", "rs-scid", "scid, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive, with sensitivity to ionizing radiation", "severe combined immunodeficiency with sensitivity to ionizing radiation", "severe combined immunodeficiency, athabaskan-type", "severe combined immunodeficiency, partial" ; + skos:exactMatch UMLS:C1865370, + UMLS:C1865371, + UMLS:C1865372, + UMLS:C1865373 ; biolink:category biolink:Disease . OMIM:602459 a owl:Class ; @@ -425690,10 +442299,10 @@ OMIM:602459 a owl:Class ; PMID:20434433, PMID:24260153, PMID:9506947 ; - oboInOwl:hasDbXref UMLS:C1865366 ; oboInOwl:hasExactSynonym "DFNA15", "deafness, autosomal dominant 15" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1865366 ; biolink:category biolink:Disease . OMIM:602471 a owl:Class ; @@ -425701,9 +442310,9 @@ OMIM:602471 a owl:Class ; IAO:0000142 PMID:12116210, PMID:24290375, PMID:9475592 ; - oboInOwl:hasDbXref UMLS:C1865361 ; oboInOwl:hasExactSynonym "SAMS", "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" ; + skos:exactMatch UMLS:C1865361 ; biolink:category biolink:Disease . OMIM:602473 a owl:Class ; @@ -425719,9 +442328,9 @@ OMIM:602473 a owl:Class ; PMID:8283379, PMID:9367300, PMID:9475600 ; - oboInOwl:hasDbXref UMLS:C1865349 ; oboInOwl:hasExactSynonym "EE", "encephalopathy, ethylmalonic" ; + skos:exactMatch UMLS:C1865349 ; biolink:category biolink:Disease . OMIM:602475 a owl:Class ; @@ -425740,9 +442349,9 @@ OMIM:602475 a owl:Class ; PMID:9457678, PMID:9585596, PMID:9662402 ; - oboInOwl:hasDbXref UMLS:C1865343 ; oboInOwl:hasExactSynonym "OPLL", "ossification of the posterior longitudinal ligament of spine" ; + skos:exactMatch UMLS:C1865343 ; biolink:category biolink:Disease . OMIM:602477 a owl:Class ; @@ -425750,7 +442359,6 @@ OMIM:602477 a owl:Class ; IAO:0000142 PMID:9384604 ; RO:0002525 CHR:9606chr19p13.3 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1865342 ; oboInOwl:hasExactSynonym "EIG17", "convulsions, familial febrile, 2", "epilepsy, idiopathic generalized, susceptibility to, 17", @@ -425760,6 +442368,7 @@ OMIM:602477 a owl:Class ; rdfs:subClassOf OMIMPS:121210, OMIMPS:600669, OMIMPS:604233 ; + skos:exactMatch UMLS:C1865342 ; biolink:category biolink:Disease . OMIM:602481 a owl:Class ; @@ -425783,13 +442392,13 @@ OMIM:602481 a owl:Class ; PMID:25138102, PMID:9403481, PMID:9579893 ; - oboInOwl:hasDbXref UMLS:C1865322, - UMLS:C1865323 ; oboInOwl:hasExactSynonym "FHM2", "mhp2", "migraine, familial basilar", "migraine, familial hemiplegic, 2" ; rdfs:subClassOf OMIMPS:141500 ; + skos:exactMatch UMLS:C1865322, + UMLS:C1865323 ; biolink:category biolink:Disease . OMIM:602482 a owl:Class ; @@ -425813,13 +442422,13 @@ OMIM:602482 a owl:Class ; PMID:9445211, PMID:9620769, PMID:9792859 ; - oboInOwl:hasDbXref UMLS:C2678503 ; oboInOwl:hasExactSynonym "RIEG3", "anterior chamber cleavage syndrome", "axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss", "axenfeld-rieger syndrome, iia 3", "rieger syndrome, iia 3" ; rdfs:subClassOf OMIMPS:180500 ; + skos:exactMatch UMLS:C2678503 ; biolink:category biolink:Disease . OMIM:602483 a owl:Class ; @@ -425837,11 +442446,11 @@ OMIM:602483 a owl:Class ; PMID:694432, PMID:9326789, PMID:9489786 ; - oboInOwl:hasDbXref UMLS:C4551996 ; oboInOwl:hasExactSynonym "ARCND1", "auriculocondylar syndrome 1", "question mark ears syndrome" ; rdfs:subClassOf OMIMPS:602483 ; + skos:exactMatch UMLS:C4551996 ; biolink:category biolink:Disease . OMIM:602488 a owl:Class ; @@ -425857,7 +442466,6 @@ OMIM:602488 a owl:Class ; PMID:9417041, PMID:9476900, PMID:9925920 ; - oboInOwl:hasDbXref UMLS:C1418979 ; oboInOwl:hasExactSynonym "CYTH2", "arf nucleotide-binding site opener", "cytohesin 2", @@ -425865,7 +442473,9 @@ OMIM:602488 a owl:Class ; "pscd2l, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9266 ; - skos:exactMatch HGNC_symbol:CYTH2 ; + skos:exactMatch UMLS:C1418979, + HGNC:9502, + HGNC_symbol:CYTH2 ; biolink:category biolink:Gene . OMIM:602491 a owl:Class ; @@ -425875,10 +442485,10 @@ OMIM:602491 a owl:Class ; PMID:15469419, PMID:15959806, PMID:9537421 ; - oboInOwl:hasDbXref UMLS:C1865289 ; oboInOwl:hasExactSynonym "FCHL1", "hyperlipidemia, combined, 1", "hyperlipidemia, familial combined, 1" ; + skos:exactMatch UMLS:C1865289 ; biolink:category biolink:Disease . OMIM:602522 a owl:Class ; @@ -425896,13 +442506,13 @@ OMIM:602522 a owl:Class ; PMID:9203176, PMID:9326936, PMID:9463315 ; - oboInOwl:hasDbXref UMLS:C1865270, - UMLS:C2748440 ; oboInOwl:hasExactSynonym "BARTS4A", "bartter syndrome, iia 4a, neonatal, with sensorineural deafness", "bartter syndrome, neonatal, with sensorineural deafness", "sensorineural deafness with mild renal dysfunction" ; rdfs:subClassOf OMIMPS:601678 ; + skos:exactMatch UMLS:C1865270, + UMLS:C2748440 ; biolink:category biolink:Disease . OMIM:602531 a owl:Class ; @@ -425912,12 +442522,12 @@ OMIM:602531 a owl:Class ; PMID:27939641, PMID:30556293, PMID:9489789 ; - oboInOwl:hasDbXref UMLS:C1865267, - ORPHA:79094 ; oboInOwl:hasExactSynonym "GRNG", "arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly", "grange occlusive arterial syndrome", "grange syndrome" ; + skos:exactMatch UMLS:C1865267, + ORPHA:79094 ; biolink:category biolink:Disease . OMIM:602535 a owl:Class ; @@ -425940,10 +442550,10 @@ OMIM:602535 a owl:Class ; PMID:9350818, PMID:9555581, PMID:9717599 ; - oboInOwl:hasDbXref UMLS:C0265211, - ORPHA:561 ; oboInOwl:hasExactSynonym "MRSHSS", "marshall-smith syndrome" ; + skos:exactMatch UMLS:C0265211, + ORPHA:561 ; biolink:category biolink:Disease . OMIM:602541 a owl:Class ; @@ -425951,10 +442561,10 @@ OMIM:602541 a owl:Class ; IAO:0000142 PMID:16371353, PMID:21665002, PMID:9427222 ; - oboInOwl:hasDbXref UMLS:C1865233 ; oboInOwl:hasExactSynonym "MDCMC", "muscular dystrophy, congenital, megaconial iia", "muscular dystrophy, congenital, with mitochondrial structural abnormalities" ; + skos:exactMatch UMLS:C1865233 ; biolink:category biolink:Disease . OMIM:602557 a owl:Class ; @@ -425962,11 +442572,11 @@ OMIM:602557 a owl:Class ; IAO:0000142 PMID:28263186, PMID:8074146, PMID:8357004 ; - oboInOwl:hasDbXref UMLS:C1865185, - ORPHA:93352 ; oboInOwl:hasExactSynonym "SEMDSH", "semd, shohat iia", "spondyloepimetaphyseal dysplasia, shohat iia" ; + skos:exactMatch UMLS:C1865185, + ORPHA:93352 ; biolink:category biolink:Disease . OMIM:602570 a owl:Class ; @@ -425983,13 +442593,14 @@ OMIM:602570 a owl:Class ; PMID:9531541 ; RO:0002525 CHR:9606chr14q32.33 ; RO:0003303 OMIM:619566 ; - oboInOwl:hasDbXref UMLS:C1416526 ; oboInOwl:hasExactSynonym "JAG2", "jagged 2", "serrate 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3714 ; - skos:exactMatch HGNC_symbol:JAG2 ; + skos:exactMatch UMLS:C1416526, + HGNC:6189, + HGNC_symbol:JAG2 ; biolink:category biolink:Gene . OMIM:602579 a owl:Class ; @@ -426006,7 +442617,6 @@ OMIM:602579 a owl:Class ; PMID:3080572, PMID:9525984, PMID:9585601 ; - oboInOwl:hasDbXref UMLS:C1865145 ; oboInOwl:hasExactSynonym "CDG1B", "cdg ib", "cdg, gastrointestinal iia", @@ -426017,6 +442627,7 @@ OMIM:602579 a owl:Class ; "saguenay-lac saint-jean syndrome", "slsj syndrome" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C1865145 ; biolink:category biolink:Disease . OMIM:602588 a owl:Class ; @@ -426036,23 +442647,23 @@ OMIM:602588 a owl:Class ; PMID:8824802, PMID:9359046, PMID:9788564 ; - oboInOwl:hasDbXref UMLS:C1865143, - UMLS:C3551443 ; oboInOwl:hasExactSynonym "BOS1", "anterior segment anomalies with or without cataract", "bo syndrome 1", "branchiootic dysplasia", "branchiootic syndrome 1" ; + skos:exactMatch UMLS:C1865143, + UMLS:C3551443 ; biolink:category biolink:Disease . OMIM:602594 a owl:Class ; rdfs:label "retinitis pigmentosa 22" ; IAO:0000142 PMID:9545639 ; RO:0002525 CHR:9606chr16p12.3-p12.1 ; - oboInOwl:hasDbXref UMLS:C3887981 ; oboInOwl:hasExactSynonym "RP22", "retinitis pigmentosa 22" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3887981 ; biolink:category biolink:Disease . OMIM:602617 a owl:Class ; @@ -426076,7 +442687,6 @@ OMIM:602617 a owl:Class ; PMID:9697705 ; RO:0002525 CHR:9606chr9q22.33 ; RO:0003303 OMIM:616534 ; - oboInOwl:hasDbXref UMLS:C1414674 ; oboInOwl:hasExactSynonym "FOXE1", "forkhead box e1", "forkhead, drosophila, homolog-like 15", @@ -426084,7 +442694,9 @@ OMIM:602617 a owl:Class ; "titf2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2304 ; - skos:exactMatch HGNC_symbol:FOXE1 ; + skos:exactMatch UMLS:C1414674, + HGNC:3806, + HGNC_symbol:FOXE1 ; biolink:category biolink:Gene . OMIM:602629 a owl:Class ; @@ -426102,11 +442714,11 @@ OMIM:602629 a owl:Class ; PMID:21793105, PMID:21847143, PMID:9382482 ; - oboInOwl:hasDbXref UMLS:C1414216 ; oboInOwl:hasExactSynonym "DYT6", "dystonia 6, torsion", "torsion dystonia, adult-onset, mixed iia" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1414216 ; biolink:category biolink:Disease . OMIM:602631 a owl:Class ; @@ -426123,8 +442735,6 @@ OMIM:602631 a owl:Class ; PMID:9802569 ; RO:0002525 CHR:9606chr11p15.4 ; RO:0003303 OMIM:268210 ; - oboInOwl:hasDbXref UMLS:C1420135, - UMLS:C1865093 ; oboInOwl:hasExactSynonym "SLC22A18", "beckwith-wiedemann region 1a", "beckwith-wiedemann syndrome chromosome region 1, candidate a", @@ -426136,7 +442746,10 @@ OMIM:602631 a owl:Class ; "tumor-suppressing subchromosomal transferable fragment candidate gene 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5002 ; - skos:exactMatch HGNC_symbol:SLC22A18 ; + skos:exactMatch UMLS:C1420135, + UMLS:C1865093, + HGNC:10964, + HGNC_symbol:SLC22A18 ; biolink:category biolink:Gene . OMIM:602639 a owl:Class ; @@ -426144,20 +442757,20 @@ OMIM:602639 a owl:Class ; IAO:0000142 PMID:9529357 ; RO:0002525 CHR:9606chr16q12.1 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1865092 ; oboInOwl:hasExactSynonym "STHAG2", "hypodontia/oligodontia 2", "tooth agenesis, selective, 2" ; rdfs:subClassOf OMIMPS:106600 ; + skos:exactMatch UMLS:C1865092 ; biolink:category biolink:Disease . OMIM:602685 a owl:Class ; rdfs:label "mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration" ; IAO:0000142 PMID:9545391 ; RO:0002525 CHR:9606chr15q24 ; - oboInOwl:hasDbXref UMLS:C1864549 ; oboInOwl:hasExactSynonym "mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration", "mrst" ; + skos:exactMatch UMLS:C1864549 ; biolink:category biolink:Disease . OMIM:602712 a owl:Class ; @@ -426167,7 +442780,6 @@ OMIM:602712 a owl:Class ; PMID:8955346, PMID:9395480, PMID:9585438 ; - oboInOwl:hasDbXref UMLS:C1412457 ; oboInOwl:hasExactSynonym "APBA2", "amyloid beta a4 precursor protein-binding, family a, member 2", "lin10, c. elegans, homolog of, B", @@ -426176,7 +442788,9 @@ OMIM:602712 a owl:Class ; "x11-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:321 ; - skos:exactMatch HGNC_symbol:APBA2 ; + skos:exactMatch UMLS:C1412457, + HGNC:579, + HGNC_symbol:APBA2 ; biolink:category biolink:Gene . OMIM:602722 a owl:Class ; @@ -426187,13 +442801,13 @@ OMIM:602722 a owl:Class ; PMID:14194734, PMID:16611712, PMID:9600966 ; - oboInOwl:hasDbXref UMLS:C5399980, - ORPHA:18, - ORPHA:402041 ; oboInOwl:hasExactSynonym "DRTA3", "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss", "rtadr" ; rdfs:subClassOf OMIMPS:179800 ; + skos:exactMatch UMLS:C5399980, + ORPHA:18, + ORPHA:402041 ; biolink:category biolink:Disease . OMIM:602723 a owl:Class ; @@ -426211,10 +442825,10 @@ OMIM:602723 a owl:Class ; PMID:8178173, PMID:9259283, PMID:9858851 ; - oboInOwl:hasDbXref UMLS:C1864497 ; oboInOwl:hasExactSynonym "PSORS2", "psoriasis 2" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C1864497 ; biolink:category biolink:Disease . OMIM:602759 a owl:Class ; @@ -426224,10 +442838,10 @@ OMIM:602759 a owl:Class ; PMID:8910276, PMID:9585607 ; RO:0002525 CHR:9606chr1q42.2-q43 ; - oboInOwl:hasDbXref UMLS:C1864472 ; oboInOwl:hasExactSynonym "HPC8", "predisposing for prostate cancer", "prostate cancer, hereditary, 8" ; + skos:exactMatch UMLS:C1864472 ; biolink:category biolink:Disease . OMIM:602771 a owl:Class ; @@ -426262,11 +442876,6 @@ OMIM:602771 a owl:Class ; PMID:7919974, PMID:9585610, PMID:985853 ; - oboInOwl:hasDbXref UMLS:C0410180, - ORPHA:324604, - ORPHA:598, - ORPHA:84132, - ORPHA:97244 ; oboInOwl:hasExactSynonym "RSMD1", "desmin-related myopathy with mallory bodies", "minicore myopathy, severe classic form", @@ -426277,6 +442886,11 @@ OMIM:602771 a owl:Class ; "myopathy, sepn1-related", "rigid spine muscular dystrophy 1", "rigid spine syndrome" ; + skos:exactMatch UMLS:C0410180, + ORPHA:324604, + ORPHA:598, + ORPHA:84132, + ORPHA:97244 ; biolink:category biolink:Disease . OMIM:602772 a owl:Class ; @@ -426287,10 +442901,10 @@ OMIM:602772 a owl:Class ; PMID:18836446, PMID:18976725, PMID:9585594 ; - oboInOwl:hasDbXref UMLS:C1864446 ; oboInOwl:hasExactSynonym "RP25", "retinitis pigmentosa 25" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1864446 ; biolink:category biolink:Disease . OMIM:602783 a owl:Class ; @@ -426314,7 +442928,6 @@ OMIM:602783 a owl:Class ; PMID:9635427 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:607259 ; - oboInOwl:hasDbXref UMLS:C1420354 ; oboInOwl:hasExactSynonym "SPG7", "cell adhesion regulator", "cell matrix adhesion regulator", @@ -426323,7 +442936,9 @@ OMIM:602783 a owl:Class ; "spg7 matrix aaa peptidase subunit, paraplegin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6687 ; - skos:exactMatch HGNC_symbol:SPG7 ; + skos:exactMatch UMLS:C1420354, + HGNC:11237, + HGNC_symbol:SPG7 ; biolink:category biolink:Gene . OMIM:602857 a owl:Class ; @@ -426333,7 +442948,6 @@ OMIM:602857 a owl:Class ; PMID:7614486, PMID:8175705, PMID:8440677 ; - oboInOwl:hasDbXref UMLS:C1413397 ; oboInOwl:hasExactSynonym "CHN2", "chimerin 2", "chimerin, beta", @@ -426344,7 +442958,9 @@ OMIM:602857 a owl:Class ; "rho gtpase-activating protein 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1124 ; - skos:exactMatch HGNC_symbol:CHN2 ; + skos:exactMatch UMLS:C1413397, + HGNC:1944, + HGNC_symbol:CHN2 ; biolink:category biolink:Gene . OMIM:602961 a owl:Class ; @@ -426356,7 +442972,6 @@ OMIM:602961 a owl:Class ; PMID:9362508, PMID:9694900, PMID:9918797 ; - oboInOwl:hasDbXref UMLS:C1421273 ; oboInOwl:hasExactSynonym "UBE2D1", "ubc4/5, s. cerevisiae, homolog of", "ubch5", @@ -426364,7 +442979,9 @@ OMIM:602961 a owl:Class ; "ubiquitin-conjugating enzyme ubch5a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7321 ; - skos:exactMatch HGNC_symbol:UBE2D1 ; + skos:exactMatch UMLS:C1421273, + HGNC:12474, + HGNC_symbol:UBE2D1 ; biolink:category biolink:Gene . OMIM:602966 a owl:Class ; @@ -426385,14 +443002,14 @@ OMIM:602966 a owl:Class ; PMID:9244439, PMID:9676424 ; RO:0002525 CHR:9606chr2p13 ; - oboInOwl:hasDbXref UMLS:C1864323, - ORPHA:141291, - ORPHA:199302, - ORPHA:199306 ; oboInOwl:hasExactSynonym "OFC2", "cleft 51p with or without cleft palate, nonsyndromic, 2", "orofacial cleft 2" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1864323, + ORPHA:141291, + ORPHA:199302, + ORPHA:199306 ; biolink:category biolink:Disease . OMIM:602974 a owl:Class ; @@ -426410,7 +443027,6 @@ OMIM:602974 a owl:Class ; PMID:9714739 ; RO:0002525 CHR:9606chr9p13.3 ; RO:0003303 OMIM:614411 ; - oboInOwl:hasDbXref UMLS:C1412497 ; oboInOwl:hasExactSynonym "AQP7", "aqpap", "aquaporin 7", @@ -426418,7 +443034,9 @@ OMIM:602974 a owl:Class ; "aquaporin, adipose" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:364 ; - skos:exactMatch HGNC_symbol:AQP7 ; + skos:exactMatch UMLS:C1412497, + HGNC:640, + HGNC_symbol:AQP7 ; biolink:category biolink:Gene . OMIM:603010 a owl:Class ; @@ -426426,10 +443044,10 @@ OMIM:603010 a owl:Class ; IAO:0000142 PMID:15293785, PMID:9674898 ; RO:0002525 CHR:9606chr7q31 ; - oboInOwl:hasDbXref UMLS:C1864276 ; oboInOwl:hasExactSynonym "DFNB17", "deafness, autosomal recessive 17" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1864276 ; biolink:category biolink:Disease . OMIM:603029 a owl:Class ; @@ -426466,12 +443084,13 @@ OMIM:603029 a owl:Class ; PMID:9435236 ; RO:0002525 CHR:9606chr4q35.1 ; RO:0003303 OMIM:613002 ; - oboInOwl:hasDbXref UMLS:C1336635 ; oboInOwl:hasExactSynonym "TLR3", "toll-like receptor 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7098 ; - skos:exactMatch HGNC_symbol:TLR3 ; + skos:exactMatch UMLS:C1336635, + HGNC:11849, + HGNC_symbol:TLR3 ; biolink:category biolink:Gene . OMIM:603034 a owl:Class ; @@ -426484,7 +443103,6 @@ OMIM:603034 a owl:Class ; PMID:8390325, PMID:9689136, PMID:9758617 ; - oboInOwl:hasDbXref UMLS:C1864233 ; oboInOwl:hasExactSynonym "CMS5", "cms ic, formerly", "congenital myasthenic syndrome iia ic, formerly", @@ -426493,6 +443111,7 @@ OMIM:603034 a owl:Class ; "myasthenic syndrome, congenital, 5", "myasthenic syndrome, congenital, engel iia" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C1864233 ; biolink:category biolink:Disease . OMIM:603040 a owl:Class ; @@ -426501,10 +443120,10 @@ OMIM:603040 a owl:Class ; PMID:8098218, PMID:9653156 ; RO:0002525 CHR:9606chr11q23 ; - oboInOwl:hasDbXref UMLS:C1864232 ; oboInOwl:hasExactSynonym "nonsmall cell lung cancer suppressor", "tsg11", "tumor suppressor gene on chromosome 11" ; + skos:exactMatch UMLS:C1864232 ; biolink:category biolink:Disease . OMIM:603046 a owl:Class ; @@ -426520,14 +443139,15 @@ OMIM:603046 a owl:Class ; PMID:9689122 ; RO:0002525 CHR:9606chr8q24.13 ; RO:0003303 OMIM:144700 ; - oboInOwl:hasDbXref UMLS:C1424693 ; oboInOwl:hasExactSynonym "RNF139", "hereditary renal cancer associated 1", "ring finger protein 139", "translocation 1n renal carcinoma on chromosome 8" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11236 ; - skos:exactMatch HGNC_symbol:RNF139 ; + skos:exactMatch UMLS:C1424693, + HGNC:17023, + HGNC_symbol:RNF139 ; biolink:category biolink:Gene . OMIM:603072 a owl:Class ; @@ -426554,7 +443174,6 @@ OMIM:603072 a owl:Class ; PMID:9771714 ; RO:0002525 CHR:9606chr20q13.2 ; RO:0003303 OMIM:114500 ; - oboInOwl:hasDbXref UMLS:C1420466 ; oboInOwl:hasExactSynonym "AURKA", "aurora kinase a", "aurora-related kinase 1", @@ -426565,7 +443184,9 @@ OMIM:603072 a owl:Class ; "stk6, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6790 ; - skos:exactMatch HGNC_symbol:AURKA ; + skos:exactMatch UMLS:C1420466, + HGNC:11393, + HGNC_symbol:AURKA ; biolink:category biolink:Gene . OMIM:603083 a owl:Class ; @@ -426574,13 +443195,14 @@ OMIM:603083 a owl:Class ; PMID:19098893, PMID:24371310, PMID:2687284 ; - oboInOwl:hasDbXref UMLS:C1415646 ; oboInOwl:hasExactSynonym "HNRNPL", "heterogeneous nuclear riboprotein 50", "hnrpl" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3191 ; - skos:exactMatch HGNC_symbol:HNRNPL ; + skos:exactMatch UMLS:C1415646, + HGNC:5045, + HGNC_symbol:HNRNPL ; biolink:category biolink:Gene . OMIM:603098 a owl:Class ; @@ -426588,10 +443210,10 @@ OMIM:603098 a owl:Class ; IAO:0000142 PMID:15355440, PMID:9781028 ; RO:0002525 CHR:9606chr7q34-q36 ; - oboInOwl:hasDbXref UMLS:C1864199 ; oboInOwl:hasExactSynonym "DFNB13", "deafness, autosomal recessive 13" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1864199 ; biolink:category biolink:Disease . OMIM:603100 a owl:Class ; @@ -426605,14 +443227,15 @@ OMIM:603100 a owl:Class ; PMID:9461603 ; RO:0002525 CHR:9606chr9q34.3 ; RO:0003303 OMIM:608594 ; - oboInOwl:hasDbXref UMLS:C1412282 ; oboInOwl:hasExactSynonym "1-acylglycerol-3-phosphate o-acyltransferase 2", "AGPAT2", "lpaat-beta", "lysophosphatidic acid acyltransferase-beta" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10555 ; - skos:exactMatch HGNC_symbol:AGPAT2 ; + skos:exactMatch UMLS:C1412282, + HGNC:325, + HGNC_symbol:AGPAT2 ; biolink:category biolink:Gene . OMIM:603116 a owl:Class ; @@ -426620,10 +443243,10 @@ OMIM:603116 a owl:Class ; IAO:0000142 PMID:15924278, PMID:9733036 ; RO:0002525 CHR:9606chr22q12-q13 ; - oboInOwl:hasDbXref UMLS:C1864186 ; oboInOwl:hasExactSynonym "cap syndrome", "cdags syndrome", "craniosynostosis, anal anomalies, and porokeratosis" ; + skos:exactMatch UMLS:C1864186 ; biolink:category biolink:Disease . OMIM:603165 a owl:Class ; @@ -426644,13 +443267,13 @@ OMIM:603165 a owl:Class ; PMID:8277028, PMID:9752825 ; RO:0002525 CHR:9606chr3q21 ; - oboInOwl:hasDbXref UMLS:C0011615, - UMLS:C1864155 ; oboInOwl:hasExactSynonym "atod", "dermatitis, atopic", "dermatitis, atopic, 1", "eczema, atopic" ; rdfs:subClassOf OMIMPS:603165 ; + skos:exactMatch UMLS:C0011615, + UMLS:C1864155 ; biolink:category biolink:Disease . OMIM:603176 a owl:Class ; @@ -426667,11 +443290,11 @@ OMIM:603176 a owl:Class ; PMID:9754621 ; RO:0002525 CHR:9606chr13q32 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1864152 ; oboInOwl:hasExactSynonym "SCZD7", "schizophrenia 7", "schizophrenia 7 with or without an affective disorder", "schizophrenia susceptibility locus, chromosome 13q-related" ; + skos:exactMatch UMLS:C1864152 ; biolink:category biolink:Disease . OMIM:603188 a owl:Class ; @@ -426681,10 +443304,10 @@ OMIM:603188 a owl:Class ; PMID:19151714, PMID:9806554 ; RO:0002525 CHR:9606chr10p ; - oboInOwl:hasDbXref UMLS:C2676933 ; oboInOwl:hasExactSynonym "BMIQ8", "body mass index quantitative trait locus 8", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C2676933 ; biolink:category biolink:Disease . OMIM:603194 a owl:Class ; @@ -426697,11 +443320,11 @@ OMIM:603194 a owl:Class ; PMID:9374403, PMID:9429143, PMID:9758620 ; - oboInOwl:hasDbXref UMLS:C1864148 ; oboInOwl:hasExactSynonym "MKS2", "meckel syndrome, iia 2", "meckel-gruber syndrome, iia 2" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C1864148 ; biolink:category biolink:Disease . OMIM:603204 a owl:Class ; @@ -426710,10 +443333,10 @@ OMIM:603204 a owl:Class ; PMID:7895015, PMID:9758605 ; RO:0002525 CHR:9606chr15q24 ; - oboInOwl:hasDbXref UMLS:C1864125 ; oboInOwl:hasExactSynonym "ENFL2", "epilepsy, nocturnal frontal lobe, 2" ; rdfs:subClassOf OMIMPS:600513 ; + skos:exactMatch UMLS:C1864125 ; biolink:category biolink:Disease . OMIM:603206 a owl:Class ; @@ -426728,11 +443351,11 @@ OMIM:603206 a owl:Class ; PMID:9758604 ; RO:0002525 CHR:9606chr18p ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1864124 ; oboInOwl:hasExactSynonym "SCZD8", "schizophrenia 8", "schizophrenia 8 with or without an affective disorder", "schizophrenia susceptibility locus, chromosome 18-related" ; + skos:exactMatch UMLS:C1864124 ; biolink:category biolink:Disease . OMIM:603209 a owl:Class ; @@ -426743,14 +443366,15 @@ OMIM:603209 a owl:Class ; PMID:9675135, PMID:9751737, PMID:9786333 ; - oboInOwl:hasDbXref UMLS:C3146941 ; oboInOwl:hasExactSynonym "CMAHP", "cmah", "cmp-neu5ac hydroxylase", "cmp-neuac hydroxylase", "cmp-sialic acid hydroxylase", "cytidine monophospho-n-acetylneuraminic acid hydroxylase, pseudogene" ; - skos:exactMatch HGNC_symbol:CMAHP . + skos:exactMatch UMLS:C3146941, + HGNC:2098, + HGNC_symbol:CMAHP . OMIM:603218 a owl:Class ; rdfs:label "huntington disease-like 1" ; @@ -426760,12 +443384,12 @@ OMIM:603218 a owl:Class ; PMID:8178825, PMID:8595485, PMID:9792871 ; - oboInOwl:hasDbXref UMLS:C1864112 ; oboInOwl:hasExactSynonym "HDL1", "huntington disease-like 1", "huntington-like neurodegenerative disorder 1", "huntington-like neurodegenerative disorder, autosomal dominant", "prion disease, early-onset, with prominent psychiatric features" ; + skos:exactMatch UMLS:C1864112 ; biolink:category biolink:Disease . OMIM:603221 a owl:Class ; @@ -426775,10 +443399,10 @@ OMIM:603221 a owl:Class ; PMID:20435602, PMID:9792869 ; RO:0002525 CHR:9606chr12q21-q23 ; - oboInOwl:hasDbXref UMLS:C1864111 ; oboInOwl:hasExactSynonym "MYP3", "myopia 3, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1864111 ; biolink:category biolink:Disease . OMIM:603240 a owl:Class ; @@ -426786,7 +443410,6 @@ OMIM:603240 a owl:Class ; IAO:0000142 PMID:16624517, PMID:9520460, PMID:9570947 ; - oboInOwl:hasDbXref UMLS:C1822741 ; oboInOwl:hasExactSynonym "SLC22A18AS", "beckwith-wiedemann region 1b", "beckwith-wiedemann syndrome chromosome region 1, candidate B", @@ -426796,7 +443419,9 @@ OMIM:603240 a owl:Class ; "solute carrier family 22 (organic cation transporter), member 18, antisense" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5003 ; - skos:exactMatch HGNC_symbol:SLC22A18AS ; + skos:exactMatch UMLS:C1822741, + HGNC:10965, + HGNC_symbol:SLC22A18AS ; biolink:category biolink:Gene . OMIM:603247 a owl:Class ; @@ -426809,7 +443434,6 @@ OMIM:603247 a owl:Class ; PMID:8939997, PMID:9671728, PMID:9730624 ; - oboInOwl:hasDbXref UMLS:C1420164 ; oboInOwl:hasExactSynonym "SLC27A2", "acyl-coa synthetase very long chain family, member 1", "fatty acid coa ligase, very long chain 1", @@ -426818,7 +443442,9 @@ OMIM:603247 a owl:Class ; "very long chain acyl-coa synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11001 ; - skos:exactMatch HGNC_symbol:SLC27A2 ; + skos:exactMatch UMLS:C1420164, + HGNC:10996, + HGNC_symbol:SLC27A2 ; biolink:category biolink:Gene . OMIM:603266 a owl:Class ; @@ -426827,11 +443453,11 @@ OMIM:603266 a owl:Class ; PMID:8733139, PMID:9788970 ; RO:0002525 CHR:9606chr10q25 ; - oboInOwl:hasDbXref UMLS:C1864068 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 17", "TID17", "diabetes mellitus, insulin-dependent, 17", "insulin-dependent diabetes mellitus 17" ; + skos:exactMatch UMLS:C1864068 ; biolink:category biolink:Disease . OMIM:603278 a owl:Class ; @@ -426849,12 +443475,12 @@ OMIM:603278 a owl:Class ; PMID:7611265, PMID:9261039, PMID:9461087 ; - oboInOwl:hasDbXref UMLS:C4551527, - ORPHA:656 ; oboInOwl:hasExactSynonym "FSGS1", "focal segmental glomerulosclerosis 1", "glomerulosclerosis, focal segmental, 1" ; rdfs:subClassOf OMIMPS:603278 ; + skos:exactMatch UMLS:C4551527, + ORPHA:656 ; biolink:category biolink:Disease . OMIM:603280 a owl:Class ; @@ -426864,12 +443490,13 @@ OMIM:603280 a owl:Class ; OMIM:603282 a owl:Class ; rdfs:label "zinc finger protein 204" ; IAO:0000142 PMID:9628832 ; - oboInOwl:hasDbXref UMLS:C1421692 ; oboInOwl:hasExactSynonym "ZNF204", "zinc finger protein 204", "zinc finger protein 204 pseudogene", "znf204 pseudogene" ; - skos:exactMatch HGNC_symbol:ZNF204P . + skos:exactMatch UMLS:C1421692, + HGNC:12995, + HGNC_symbol:ZNF204P . OMIM:603284 a owl:Class ; rdfs:label "cerebral cavernous malformations 2" ; @@ -426882,10 +443509,10 @@ OMIM:603284 a owl:Class ; PMID:19088124, PMID:21543988, PMID:9811928 ; - oboInOwl:hasDbXref UMLS:C1864041 ; oboInOwl:hasExactSynonym "CCM2", "cerebral cavernous malformations 2" ; rdfs:subClassOf OMIMPS:116860 ; + skos:exactMatch UMLS:C1864041 ; biolink:category biolink:Disease . OMIM:603285 a owl:Class ; @@ -426897,11 +443524,11 @@ OMIM:603285 a owl:Class ; PMID:19088123, PMID:19088124, PMID:9811928 ; - oboInOwl:hasDbXref UMLS:C1864040, - ORPHA:221061 ; oboInOwl:hasExactSynonym "CCM3", "cerebral cavernous malformations 3" ; rdfs:subClassOf OMIMPS:116860 ; + skos:exactMatch UMLS:C1864040, + ORPHA:221061 ; biolink:category biolink:Disease . OMIM:603314 a owl:Class ; @@ -426912,7 +443539,6 @@ OMIM:603314 a owl:Class ; PMID:7954810, PMID:9642112, PMID:9671728 ; - oboInOwl:hasDbXref UMLS:C1420167 ; oboInOwl:hasExactSynonym "SLC27A5", "acyl-coa synthetase very long chain family, member 6", "bile acyl coa synthetase", @@ -426922,7 +443548,9 @@ OMIM:603314 a owl:Class ; "vlcs homolog 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10998 ; - skos:exactMatch HGNC_symbol:SLC27A5 ; + skos:exactMatch UMLS:C1420167, + HGNC:10999, + HGNC_symbol:SLC27A5 ; biolink:category biolink:Gene . OMIM:603317 a owl:Class ; @@ -426935,13 +443563,14 @@ OMIM:603317 a owl:Class ; PMID:9727007 ; RO:0002525 CHR:9606chr12q21.31 ; RO:0003303 OMIM:613391 ; - oboInOwl:hasDbXref UMLS:C1419122 ; oboInOwl:hasExactSynonym "PTPRQ", "protein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells 1", "protein-tyrosine phosphatase, receptor-type, q" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:374462 ; - skos:exactMatch HGNC_symbol:PTPRQ ; + skos:exactMatch UMLS:C1419122, + HGNC:9679, + HGNC_symbol:PTPRQ ; biolink:category biolink:Gene . OMIM:603330 a owl:Class ; @@ -426957,8 +443586,6 @@ OMIM:603330 a owl:Class ; PMID:8812413 ; RO:0002525 CHR:9606chr17p12 ; RO:0003303 OMIM:618300 ; - oboInOwl:hasDbXref UMLS:C1414104, - UMLS:C4749090 ; oboInOwl:hasExactSynonym "DNAH9", "dynein, axonemal, heavy chain 17-like", "dynein, axonemal, heavy chain 9", @@ -426966,7 +443593,10 @@ OMIM:603330 a owl:Class ; "hl20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1770 ; - skos:exactMatch HGNC_symbol:DNAH9 ; + skos:exactMatch UMLS:C1414104, + UMLS:C4749090, + HGNC:2953, + HGNC_symbol:DNAH9 ; biolink:category biolink:Gene . OMIM:603339 a owl:Class ; @@ -426993,7 +443623,6 @@ OMIM:603339 a owl:Class ; PMID:9585585 ; RO:0002525 CHR:9606chr7p15.3 ; RO:0003303 OMIM:611884 ; - oboInOwl:hasDbXref UMLS:C1414094 ; oboInOwl:hasExactSynonym "DNAH11", "dnahc11", "dpl11", @@ -427001,7 +443630,9 @@ OMIM:603339 a owl:Class ; "dynein, heavy chain beta-like" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8701 ; - skos:exactMatch HGNC_symbol:DNAH11 ; + skos:exactMatch UMLS:C1414094, + HGNC:2942, + HGNC_symbol:DNAH11 ; biolink:category biolink:Gene . OMIM:603342 a owl:Class ; @@ -427024,10 +443655,10 @@ OMIM:603342 a owl:Class ; PMID:9619145 ; RO:0002525 CHR:9606chr11q14-q21 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1864010 ; oboInOwl:hasExactSynonym "SCZD2", "schizophrenia 2", "schizophrenia susceptibility locus, chromosome 11q-related" ; + skos:exactMatch UMLS:C1864010 ; biolink:category biolink:Disease . OMIM:603345 a owl:Class ; @@ -427045,7 +443676,6 @@ OMIM:603345 a owl:Class ; PMID:9651366 ; RO:0002525 CHR:9606chr4q13.3 ; RO:0003303 OMIM:604278 ; - oboInOwl:hasDbXref UMLS:C1420196 ; oboInOwl:hasExactSynonym "SLC4A4", "sodium bicarbonate cotransporter 1", "sodium bicarbonate cotransporter, heart", @@ -427055,17 +443685,19 @@ OMIM:603345 a owl:Class ; "solute carrier family 4 (sodium bicarbonate cotransporter), member 5, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8671 ; - skos:exactMatch HGNC_symbol:SLC4A4 ; + skos:exactMatch UMLS:C1420196, + HGNC:11030, + HGNC_symbol:SLC4A4 ; biolink:category biolink:Gene . OMIM:603383 a owl:Class ; rdfs:label "glaucoma 1, open angle, f" ; IAO:0000142 PMID:10037570, PMID:22156576 ; - oboInOwl:hasDbXref UMLS:C1863926 ; oboInOwl:hasExactSynonym "GLC1F", "glaucoma 1, open angle, f", "glaucoma, primary open angle, adult-onset" ; + skos:exactMatch UMLS:C1863926 ; biolink:category biolink:Disease . OMIM:603386 a owl:Class ; @@ -427078,10 +443710,10 @@ OMIM:603386 a owl:Class ; PMID:9186475, PMID:9837827 ; RO:0002525 CHR:9606chr19p13.2 ; - oboInOwl:hasDbXref UMLS:C1863925 ; oboInOwl:hasExactSynonym "tco", "tco1", "thyroid carcinoma, nonmedullary, with or without cell oxyphilia" ; + skos:exactMatch UMLS:C1863925 ; biolink:category biolink:Disease . OMIM:603387 a owl:Class ; @@ -427095,14 +443727,14 @@ OMIM:603387 a owl:Class ; PMID:22729224, PMID:23745724, PMID:9788554 ; - oboInOwl:hasDbXref UMLS:C1863924, - UMLS:C4012727 ; oboInOwl:hasExactSynonym "MPPH1", "meg-pmg-megacc syndrome", "megalencephaly, mega corpus callosum, and complete lack of motor development", "megalencephaly, polymicrogyria, mega corpus callosum syndrome", "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" ; rdfs:subClassOf OMIMPS:603387 ; + skos:exactMatch UMLS:C1863924, + UMLS:C4012727 ; biolink:category biolink:Disease . OMIM:603388 a owl:Class ; @@ -427113,28 +443745,29 @@ OMIM:603388 a owl:Class ; PMID:9837828, PMID:9843983 ; RO:0002525 CHR:9606chr20q13.11 ; - oboInOwl:hasDbXref UMLS:C1863923 ; oboInOwl:hasExactSynonym "graves disease, susceptibility to, 2", "grd2" ; + skos:exactMatch UMLS:C1863923 ; biolink:category biolink:Disease . OMIM:603416 a owl:Class ; rdfs:label "ribosomal protein l21 pseudogene 1" ; IAO:0000142 PMID:1445296, PMID:7940018 ; - oboInOwl:hasDbXref UMLS:C1863884 ; oboInOwl:hasExactSynonym "RPL21P1", "ribosomal protein l21 pseudogene 1" ; - skos:exactMatch HGNC_symbol:RPL21P1 . + skos:exactMatch UMLS:C1863884, + HGNC:10314, + HGNC_symbol:RPL21P1 . OMIM:603467 a owl:Class ; rdfs:label "fanconi anemia, complementation group f" ; IAO:0000142 PMID:10615118, PMID:21568838 ; - oboInOwl:hasDbXref UMLS:C3469526 ; oboInOwl:hasExactSynonym "FANCF", "fanconi anemia, complementation group f" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C3469526 ; biolink:category biolink:Disease . OMIM:603499 a owl:Class ; @@ -427167,7 +443800,6 @@ OMIM:603499 a owl:Class ; PMID:9878548 ; RO:0002525 CHR:9606chr18q21.33 ; RO:0003303 OMIM:602080 ; - oboInOwl:hasDbXref UMLS:C1420805 ; oboInOwl:hasExactSynonym "TNFRSF11A", "loss of heterozygosity, chromosome 18, region 1", "osteoclast differentiation factor receptor", @@ -427178,7 +443810,9 @@ OMIM:603499 a owl:Class ; "tumor necrosis factor receptor superfamily, member 11a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8792 ; - skos:exactMatch HGNC_symbol:TNFRSF11A ; + skos:exactMatch UMLS:C1420805, + HGNC:11908, + HGNC_symbol:TNFRSF11A ; biolink:category biolink:Gene . OMIM:603511 a owl:Class ; @@ -427202,13 +443836,13 @@ OMIM:603511 a owl:Class ; PMID:6053567, PMID:8533766, PMID:9973293 ; - oboInOwl:hasDbXref UMLS:C3148763, - UMLS:C4721885 ; oboInOwl:hasExactSynonym "LGMDD1", "muscular dystrophy, limb-girdle, iia 1d, formerly", "muscular dystrophy, limb-girdle, iia 1e", "muscular dystrophy, limb-girdle, autosomal dominant 1" ; rdfs:subClassOf OMIMPS:603511 ; + skos:exactMatch UMLS:C3148763, + UMLS:C4721885 ; biolink:category biolink:Disease . OMIM:603516 a owl:Class ; @@ -427230,10 +443864,10 @@ OMIM:603516 a owl:Class ; PMID:8421960, PMID:9818872, PMID:9973298 ; - oboInOwl:hasDbXref UMLS:C1963674 ; oboInOwl:hasExactSynonym "SCA10", "spinocerebellar ataxia 10" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1963674 ; biolink:category biolink:Disease . OMIM:603546 a owl:Class ; @@ -427254,13 +443888,13 @@ OMIM:603546 a owl:Class ; PMID:9133352, PMID:9678701, PMID:9843056 ; - oboInOwl:hasDbXref UMLS:C1863732 ; oboInOwl:hasExactSynonym "SEMDJL2", "spondyloepimetaphyseal dysplasia with joint laxity, iia 2", "spondyloepimetaphyseal dysplasia with joint laxity, hall iia", "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic iia", "spondyloepimetaphyseal dysplasia with multiple dislocations, hall iia" ; rdfs:subClassOf OMIMPS:271640 ; + skos:exactMatch UMLS:C1863732 ; biolink:category biolink:Disease . OMIM:603552 a owl:Class ; @@ -427270,13 +443904,13 @@ OMIM:603552 a owl:Class ; PMID:16582076, PMID:24459464, PMID:32374962 ; - oboInOwl:hasDbXref UMLS:C1863728, - ORPHA:540 ; oboInOwl:hasExactSynonym "FHL4", "hemophagocytic lymphohistiocytosis, familial, 4", "hlh4", "hplh4" ; rdfs:subClassOf OMIMPS:267700 ; + skos:exactMatch UMLS:C1863728, + ORPHA:540 ; biolink:category biolink:Disease . OMIM:603563 a owl:Class ; @@ -427285,10 +443919,10 @@ OMIM:603563 a owl:Class ; PMID:17160902, PMID:23455931, PMID:9973294 ; - oboInOwl:hasDbXref UMLS:C1863704 ; oboInOwl:hasExactSynonym "SPG8", "spastic paraplegia 8, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1863704 ; biolink:category biolink:Disease . OMIM:603585 a owl:Class ; @@ -427298,11 +443932,11 @@ OMIM:603585 a owl:Class ; PMID:23873973, PMID:25552652, PMID:28856833 ; - oboInOwl:hasDbXref UMLS:C1970344 ; oboInOwl:hasExactSynonym "CDG2F", "cdg iif", "congenital disorder of glycosylation, iia iif" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C1970344 ; biolink:category biolink:Disease . OMIM:603592 a owl:Class ; @@ -427311,11 +443945,11 @@ OMIM:603592 a owl:Class ; PMID:14624414, PMID:17368066, PMID:25967871 ; - oboInOwl:hasDbXref UMLS:C1863688 ; oboInOwl:hasExactSynonym "XAN2", "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of", "xanthinuria, iia 2" ; rdfs:subClassOf OMIMPS:278300 ; + skos:exactMatch UMLS:C1863688 ; biolink:category biolink:Disease . OMIM:603629 a owl:Class ; @@ -427323,10 +443957,10 @@ OMIM:603629 a owl:Class ; IAO:0000142 PMID:12746400, PMID:17431902, PMID:9949200 ; - oboInOwl:hasDbXref UMLS:C1863655 ; oboInOwl:hasExactSynonym "DFNB21", "deafness, autosomal recessive 21" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1863655 ; biolink:category biolink:Disease . OMIM:603649 a owl:Class ; @@ -427334,10 +443968,10 @@ OMIM:603649 a owl:Class ; IAO:0000142 PMID:10420191, PMID:12659814, PMID:9634506 ; - oboInOwl:hasDbXref UMLS:C1863634 ; oboInOwl:hasExactSynonym "CORD7", "cone-rod dystrophy 7" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1863634 ; biolink:category biolink:Disease . OMIM:603663 a owl:Class ; @@ -427350,9 +443984,9 @@ OMIM:603663 a owl:Class ; PMID:7668292, PMID:9861003 ; RO:0002525 CHR:9606chr4p ; - oboInOwl:hasDbXref UMLS:C1863621 ; oboInOwl:hasExactSynonym "mental health wellness 1", "mhw1" ; + skos:exactMatch UMLS:C1863621 ; biolink:category biolink:Disease . OMIM:603664 a owl:Class ; @@ -427365,18 +443999,18 @@ OMIM:603664 a owl:Class ; PMID:7668292, PMID:9861003 ; RO:0002525 CHR:9606chr4q ; - oboInOwl:hasDbXref UMLS:C1863620 ; oboInOwl:hasExactSynonym "mental health wellness 2", - "mhw2" . + "mhw2" ; + skos:exactMatch UMLS:C1863620 . OMIM:603678 a owl:Class ; rdfs:label "deafness, autosomal recessive 14" ; IAO:0000142 PMID:9887371 ; RO:0002525 CHR:9606chr7q31 ; - oboInOwl:hasDbXref UMLS:C1863613 ; oboInOwl:hasExactSynonym "DFNB14", "deafness, autosomal recessive 14" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1863613 ; biolink:category biolink:Disease . OMIM:603688 a owl:Class ; @@ -427386,10 +444020,10 @@ OMIM:603688 a owl:Class ; PMID:11313747, PMID:15300251, PMID:16155194 ; - oboInOwl:hasDbXref UMLS:C1863600 ; oboInOwl:hasExactSynonym "capb", "pcbc", "prostate cancer/brain cancer susceptibility" ; + skos:exactMatch UMLS:C1863600 ; biolink:category biolink:Disease . OMIM:603689 a owl:Class ; @@ -427402,7 +444036,6 @@ OMIM:603689 a owl:Class ; PMID:22577215, PMID:23486992, PMID:2376753 ; - oboInOwl:hasDbXref UMLS:C1863599 ; oboInOwl:hasExactSynonym "MFM9", "edstrom myopathy", "hereditary myopathy with early respiratory failure", @@ -427410,6 +444043,7 @@ OMIM:603689 a owl:Class ; "myopathy, myofibrillar, 9, with early respiratory failure", "myopathy, proximal, with early respiratory muscle involvement" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C1863599 ; biolink:category biolink:Disease . OMIM:603694 a owl:Class ; @@ -427421,11 +444055,11 @@ OMIM:603694 a owl:Class ; PMID:9133559, PMID:9285775 ; RO:0002525 CHR:9606chr20q12-q13.1 ; - oboInOwl:hasDbXref UMLS:C1863594 ; oboInOwl:hasExactSynonym " iia 2 diabetes mellitus 3", "T2D3", "diabetes mellitus, noninsulin-dependent, 3", "noninsulin-dependent diabetes mellitus 3" ; + skos:exactMatch UMLS:C1863594 ; biolink:category biolink:Disease . OMIM:603720 a owl:Class ; @@ -427435,10 +444069,10 @@ OMIM:603720 a owl:Class ; PMID:22147502, PMID:26011646, PMID:9429146 ; - oboInOwl:hasDbXref UMLS:C1863561 ; oboInOwl:hasExactSynonym "DFNB16", "deafness, autosomal recessive 16" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1863561 ; biolink:category biolink:Disease . OMIM:603736 a owl:Class ; @@ -427458,31 +444092,33 @@ OMIM:603736 a owl:Class ; PMID:8055130, PMID:8474111, PMID:9316295 ; - oboInOwl:hasDbXref UMLS:C1863557, - ORPHA:3047 ; oboInOwl:hasExactSynonym "SBBYSS", "ohdo syndrome, sbbys variant", "say-barber-biesecker-young-simpson syndrome", "young-simpson syndrome" ; + skos:exactMatch UMLS:C1863557, + ORPHA:3047 ; biolink:category biolink:Disease . OMIM:603738 a owl:Class ; rdfs:label "basic transcription factor 3 pseudogene 12" ; IAO:0000142 PMID:1386332 ; - oboInOwl:hasDbXref UMLS:C1412837 ; oboInOwl:hasExactSynonym "BTF3P12", "basic transcription factor 3 pseudogene 12", "basic transcription factor 3-like 2" ; - skos:exactMatch HGNC_symbol:BTF3P12 . + skos:exactMatch UMLS:C1412837, + HGNC:1127, + HGNC_symbol:BTF3P12 . OMIM:603739 a owl:Class ; rdfs:label "basic transcription factor 3 pseudogene 13" ; IAO:0000142 PMID:1386332 ; - oboInOwl:hasDbXref UMLS:C1412838 ; oboInOwl:hasExactSynonym "BTF3P13", "basic transcription factor 3 pseudogene 13", "basic transcription factor 3-like 3" ; - skos:exactMatch HGNC_symbol:BTF3P13 . + skos:exactMatch UMLS:C1412838, + HGNC:1128, + HGNC_symbol:BTF3P13 . OMIM:603776 a owl:Class ; rdfs:label "hypercholesterolemia, familial, 3" ; @@ -427492,14 +444128,14 @@ OMIM:603776 a owl:Class ; PMID:12730697, PMID:14727179, PMID:15654334 ; - oboInOwl:hasDbXref UMLS:C1863551, - UMLS:C3276239 ; oboInOwl:hasExactSynonym "FHCL3", "fh3", "hypercholesterolemia, autosomal dominant, 3", "hypercholesterolemia, familial, 3", "low density lipoprotein cholesterol level quantitative trait locus 1" ; rdfs:subClassOf OMIMPS:143890 ; + skos:exactMatch UMLS:C1863551, + UMLS:C3276239 ; biolink:category biolink:Disease . OMIM:603783 a owl:Class ; @@ -427509,12 +444145,12 @@ OMIM:603783 a owl:Class ; PMID:22258510, PMID:9242404 ; RO:0002525 CHR:9606chr4p16-q34 ; - oboInOwl:hasDbXref UMLS:C1863535, - UMLS:C2751900 ; oboInOwl:hasExactSynonym "cognitive ability, general", "intelligence quantitative trait locus 1", "intlq1", "self-perceived ability" ; + skos:exactMatch UMLS:C1863535, + UMLS:C2751900 ; biolink:category biolink:Disease . OMIM:603786 a owl:Class ; @@ -427523,10 +444159,10 @@ OMIM:603786 a owl:Class ; PMID:18654668, PMID:29416601, PMID:31576780 ; - oboInOwl:hasDbXref UMLS:C1863534, - ORPHA:827 ; oboInOwl:hasExactSynonym "STGD4", "stargardt disease 4" ; + skos:exactMatch UMLS:C1863534, + ORPHA:827 ; biolink:category biolink:Disease . OMIM:603813 a owl:Class ; @@ -427549,7 +444185,6 @@ OMIM:603813 a owl:Class ; PMID:8774336, PMID:9409298, PMID:9626156 ; - oboInOwl:hasDbXref UMLS:C1863512 ; oboInOwl:hasExactSynonym "FHCL4", "fhcb1, formerly", "fhcb2, formerly", @@ -427558,6 +444193,7 @@ OMIM:603813 a owl:Class ; "hypercholesterolemia, autosomal recessive, 2, formerly", "hypercholesterolemia, familial, 4" ; rdfs:subClassOf OMIMPS:143890 ; + skos:exactMatch UMLS:C1863512 ; biolink:category biolink:Disease . OMIM:603829 a owl:Class ; @@ -427568,13 +444204,13 @@ OMIM:603829 a owl:Class ; PMID:4834245, PMID:9363814, PMID:9521325 ; - oboInOwl:hasDbXref UMLS:C2751898, - UMLS:C4017668 ; oboInOwl:hasExactSynonym "VF1", "ivf", "ventricular fibrillation during myocardial infarction, susceptibility to", "ventricular fibrillation, paroxysmal familial, 1", "vf" ; + skos:exactMatch UMLS:C2751898, + UMLS:C4017668 ; biolink:category biolink:Disease . OMIM:603855 a owl:Class ; @@ -427585,11 +444221,11 @@ OMIM:603855 a owl:Class ; PMID:2715890, PMID:8589719 ; RO:0002525 CHR:9606chr19q13.2-q13.4 ; - oboInOwl:hasDbXref UMLS:C1859047, - UMLS:C3276246 ; oboInOwl:hasExactSynonym "CFM1", "cystic fibrosis, modifier of, 1", "meconium ileus 1n cystic fibrosis, susceptibility to" ; + skos:exactMatch UMLS:C1859047, + UMLS:C3276246 ; biolink:category biolink:Disease . OMIM:603918 a owl:Class ; @@ -427600,9 +444236,9 @@ OMIM:603918 a owl:Class ; PMID:9328471 ; RO:0002525 CHR:9606chr17q ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1858967 ; oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 1", "hyt1" ; + skos:exactMatch UMLS:C1858967 ; biolink:category biolink:Disease . OMIM:603933 a owl:Class ; @@ -427639,14 +444275,6 @@ OMIM:603933 a owl:Class ; PMID:871863, PMID:8858216, PMID:9215310 ; - oboInOwl:hasDbXref UMLS:C2676832, - UMLS:C2676833, - UMLS:C2676835, - UMLS:C2676836, - UMLS:C2676837, - UMLS:C2676838, - UMLS:C2676839, - UMLS:C4017829 ; oboInOwl:hasExactSynonym "MVCD1", "end-stage renal disease, diabetic, susceptibility to", "microvascular complications of diabetes, protection against", @@ -427657,6 +444285,14 @@ OMIM:603933 a owl:Class ; "nonproliferative retinopathy, diabetic, susceptibility to", "proliferative retinopathy, diabetic, susceptibility to" ; rdfs:subClassOf OMIMPS:603933 ; + skos:exactMatch UMLS:C2676832, + UMLS:C2676833, + UMLS:C2676835, + UMLS:C2676836, + UMLS:C2676837, + UMLS:C2676838, + UMLS:C2676839, + UMLS:C4017829 ; biolink:category biolink:Disease . OMIM:603935 a owl:Class ; @@ -427674,20 +444310,20 @@ OMIM:603935 a owl:Class ; PMID:22407025, PMID:9886260 ; RO:0002525 CHR:9606chr1q21 ; - oboInOwl:hasDbXref UMLS:C1858958 ; oboInOwl:hasExactSynonym "PSORS4", "psoriasis 4, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C1858958 ; biolink:category biolink:Disease . OMIM:603964 a owl:Class ; rdfs:label "deafness, autosomal dominant 16" ; IAO:0000142 PMID:10364526 ; RO:0002525 CHR:9606chr2q23-q24.3 ; - oboInOwl:hasDbXref UMLS:C1858916 ; oboInOwl:hasExactSynonym "DFNA16", "deafness, autosomal dominant 16" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1858916 ; biolink:category biolink:Disease . OMIM:603965 a owl:Class ; @@ -427697,38 +444333,40 @@ OMIM:603965 a owl:Class ; PMID:15879175, PMID:15924139, PMID:16932363 ; - oboInOwl:hasDbXref UMLS:C1858915 ; oboInOwl:hasExactSynonym "FSGS2", "focal segmental glomerulosclerosis 2", "glomerulosclerosis, focal segmental, 2" ; rdfs:subClassOf OMIMPS:603278 ; + skos:exactMatch UMLS:C1858915 ; biolink:category biolink:Disease . OMIM:603977 a owl:Class ; rdfs:label "ZNF208" ; IAO:0000142 PMID:8467795, PMID:9724325 ; - oboInOwl:hasDbXref UMLS:C1421696 ; oboInOwl:hasExactSynonym "ZNF208", "zinc finger protein 208", "zinc finger protein 95" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7757 ; - skos:exactMatch HGNC_symbol:ZNF208 ; + skos:exactMatch UMLS:C1421696, + HGNC:12999, + HGNC_symbol:ZNF208 ; biolink:category biolink:Gene . OMIM:603989 a owl:Class ; rdfs:label "ZNF107" ; IAO:0000142 PMID:10673043, PMID:8467795 ; - oboInOwl:hasDbXref UMLS:C1421595 ; oboInOwl:hasExactSynonym "ZNF107", "zfd25", "zinc finger protein 107", "zinc finger protein 588, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51427 ; - skos:exactMatch HGNC_symbol:ZNF107 ; + skos:exactMatch UMLS:C1421595, + HGNC:12887, + HGNC_symbol:ZNF107 ; biolink:category biolink:Gene . OMIM:604004 a owl:Class ; @@ -427745,7 +444383,6 @@ OMIM:604004 a owl:Class ; PMID:9120220, PMID:9258973, PMID:9628190 ; - oboInOwl:hasDbXref UMLS:C1858854 ; oboInOwl:hasExactSynonym "MLC1", "leukoencephalopathy with swelling and cysts", "lvm", @@ -427754,16 +444391,17 @@ OMIM:604004 a owl:Class ; "van der knaap disease", "vl" ; rdfs:subClassOf OMIMPS:604004 ; + skos:exactMatch UMLS:C1858854 ; biolink:category biolink:Disease . OMIM:604060 a owl:Class ; rdfs:label "deafness, autosomal recessive 20" ; IAO:0000142 PMID:10196710 ; RO:0002525 CHR:9606chr11q25-qter ; - oboInOwl:hasDbXref UMLS:C1858840 ; oboInOwl:hasExactSynonym "DFNB20", "deafness, autosomal recessive 20" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1858840 ; biolink:category biolink:Disease . OMIM:604093 a owl:Class ; @@ -427773,9 +444411,9 @@ OMIM:604093 a owl:Class ; PMID:3654209, PMID:8041661, PMID:9733029 ; - oboInOwl:hasDbXref UMLS:C0263428 ; oboInOwl:hasExactSynonym "KPA", "keratosis pilaris atrophicans" ; + skos:exactMatch UMLS:C0263428 ; biolink:category biolink:Disease . OMIM:604117 a owl:Class ; @@ -427787,12 +444425,12 @@ OMIM:604117 a owl:Class ; PMID:8673107, PMID:9326323, PMID:9326398 ; - oboInOwl:hasDbXref UMLS:C1858805, - ORPHA:79395 ; oboInOwl:hasExactSynonym "loricrin keratoderma", "mutilating keratoderma with ichthyosis", "vohwinkel syndrome with ichthyosis", "vohwinkel syndrome, variant form" ; + skos:exactMatch UMLS:C1858805, + ORPHA:79395 ; biolink:category biolink:Disease . OMIM:604146 a owl:Class ; @@ -427812,24 +444450,25 @@ OMIM:604146 a owl:Class ; PMID:29088700, PMID:7791877, PMID:9615227 ; - oboInOwl:hasDbXref UMLS:C1418293 ; oboInOwl:hasExactSynonym "SYT7", "ipca7", "prostate cancer-associated protein 7", "synaptotagmin 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9066 ; - skos:exactMatch HGNC_symbol:SYT7 ; + skos:exactMatch UMLS:C1418293, + HGNC:11514, + HGNC_symbol:SYT7 ; biolink:category biolink:Gene . OMIM:604154 a owl:Class ; rdfs:label "alzheimer disease 15" ; IAO:0000142 PMID:10480352, PMID:17564960 ; - oboInOwl:hasDbXref UMLS:C1858751 ; oboInOwl:hasExactSynonym "AD15", "alzheimer disease 15", "alzheimer disease without neurofibrillary tangles" ; + skos:exactMatch UMLS:C1858751 ; biolink:category biolink:Disease . OMIM:604168 a owl:Class ; @@ -427843,10 +444482,10 @@ OMIM:604168 a owl:Class ; PMID:14517542, PMID:25186864, PMID:9638664 ; - oboInOwl:hasDbXref UMLS:C1858726 ; oboInOwl:hasExactSynonym "CCFDN", "cataract, congenital, with facial dysmorphism and neuropathy", "congenital cataracts, facial dysmorphism, and neuropathy" ; + skos:exactMatch UMLS:C1858726 ; biolink:category biolink:Disease . OMIM:604173 a owl:Class ; @@ -427861,11 +444500,11 @@ OMIM:604173 a owl:Class ; PMID:20503306, PMID:20734427, PMID:29753917 ; - oboInOwl:hasDbXref UMLS:C1858723, - ORPHA:221046 ; oboInOwl:hasExactSynonym "PN", "poikiloderma with neutropenia", "poikiloderma with neutropenia, clericuzio-type" ; + skos:exactMatch UMLS:C1858723, + ORPHA:221046 ; biolink:category biolink:Disease . OMIM:604185 a owl:Class ; @@ -427874,12 +444513,12 @@ OMIM:604185 a owl:Class ; PMID:3775291 ; RO:0002525 CHR:9606chr10q21.3-q22.1 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1858717 ; oboInOwl:hasExactSynonym "HCFP2", "facial paresis, hereditary congenital, 2", "mobius syndrome 3, formerly", "moebius syndrome 3, formerly" ; rdfs:subClassOf OMIMPS:601471 ; + skos:exactMatch UMLS:C1858717 ; biolink:category biolink:Disease . OMIM:604201 a owl:Class ; @@ -427888,11 +444527,11 @@ OMIM:604201 a owl:Class ; PMID:15756299, PMID:19822645 ; RO:0002525 CHR:9606chr6q22-q23 ; - oboInOwl:hasDbXref UMLS:C1858709, - UMLS:C2751781 ; oboInOwl:hasExactSynonym "hepatic fibrosis, severe, susceptibility to, due to schistosoma japonicum infection", "hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection", "sm2" ; + skos:exactMatch UMLS:C1858709, + UMLS:C2751781 ; biolink:category biolink:Disease . OMIM:604218 a owl:Class ; @@ -427905,10 +444544,10 @@ OMIM:604218 a owl:Class ; PMID:12925575, PMID:16782060, PMID:18591508 ; - oboInOwl:hasDbXref UMLS:C1858680 ; oboInOwl:hasExactSynonym "FENIB", "encephalopathy, familial, with collins bodies", "encephalopathy, familial, with neuroserpin inclusion bodies" ; + skos:exactMatch UMLS:C1858680 ; biolink:category biolink:Disease . OMIM:604219 a owl:Class ; @@ -427925,14 +444564,14 @@ OMIM:604219 a owl:Class ; PMID:23255486, PMID:9023351, PMID:9467006 ; - oboInOwl:hasDbXref UMLS:C1858679, - UMLS:C3888098 ; oboInOwl:hasExactSynonym "CTRCT9", "cataract 9, multiple types", "cataract 9, multiple types, with or without microcornea", "cataract, autosomal dominant", "cataract, autosomal recessive congenital 1" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1858679, + UMLS:C3888098 ; biolink:category biolink:Disease . OMIM:604232 a owl:Class ; @@ -427942,12 +444581,12 @@ OMIM:604232 a owl:Class ; PMID:21310915, PMID:9326941, PMID:9799089 ; - oboInOwl:hasDbXref UMLS:C1858677, - UMLS:C2751780 ; oboInOwl:hasExactSynonym "LCA3", "leber congenital amaurosis 3", "retinitis pigmentosa, juvenile, spata7-related" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C1858677, + UMLS:C2751780 ; biolink:category biolink:Disease . OMIM:604250 a owl:Class ; @@ -427956,11 +444595,11 @@ OMIM:604250 a owl:Class ; PMID:10802645, PMID:11005792, PMID:12130528 ; - oboInOwl:hasDbXref UMLS:C1858664 ; oboInOwl:hasExactSynonym "HFE3", "hemochromatosis due to defect 1n transferrin receptor 2", "hemochromatosis, iia 3" ; rdfs:subClassOf OMIMPS:235200 ; + skos:exactMatch UMLS:C1858664 ; biolink:category biolink:Disease . OMIM:604254 a owl:Class ; @@ -427971,9 +444610,9 @@ OMIM:604254 a owl:Class ; PMID:15007729, PMID:24810580 ; RO:0002525 CHR:9606chr2p16-p15 ; - oboInOwl:hasDbXref UMLS:C1858662 ; oboInOwl:hasExactSynonym "DYX3", "dyslexia, susceptibility to, 3" ; + skos:exactMatch UMLS:C1858662 ; biolink:category biolink:Disease . OMIM:604273 a owl:Class ; @@ -427983,22 +444622,22 @@ OMIM:604273 a owl:Class ; PMID:17052906, PMID:19015156, PMID:20566710 ; - oboInOwl:hasDbXref UMLS:C3276276 ; oboInOwl:hasExactSynonym "MC5DN1", "mitochondrial complex 5 (atp synthase) deficiency, atpaf2 iia", "mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 1" ; rdfs:subClassOf OMIMPS:604273 ; + skos:exactMatch UMLS:C3276276 ; biolink:category biolink:Disease . OMIM:604288 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1h" ; IAO:0000142 PMID:10486326 ; RO:0002525 CHR:9606chr2q14-q22 ; - oboInOwl:hasDbXref UMLS:C1858591 ; oboInOwl:hasExactSynonym "CMD1H", "cardiomyopathy, dilated, 1h", "cardiomyopathy, dilated, with conduction defect" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1858591 ; biolink:category biolink:Disease . OMIM:604290 a owl:Class ; @@ -428020,12 +444659,12 @@ OMIM:604290 a owl:Class ; PMID:8641692, PMID:8789443, PMID:9066364 ; - oboInOwl:hasDbXref UMLS:C0878682, - UMLS:C1858583 ; oboInOwl:hasExactSynonym "aceruloplasminemia", "ceruloplasmin deficiency", "hemosiderosis, systemic, due to aceruloplasminemia", "hypoceruloplasminemia" ; + skos:exactMatch UMLS:C0878682, + UMLS:C1858583 ; biolink:category biolink:Disease . OMIM:604292 a owl:Class ; @@ -428045,10 +444684,10 @@ OMIM:604292 a owl:Class ; PMID:9028452, PMID:9443880, PMID:9973291 ; - oboInOwl:hasDbXref UMLS:C1858562 ; oboInOwl:hasExactSynonym "EEC3", "ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3", "eec syndrome 3" ; + skos:exactMatch UMLS:C1858562 ; biolink:category biolink:Disease . OMIM:604302 a owl:Class ; @@ -428062,10 +444701,10 @@ OMIM:604302 a owl:Class ; PMID:7788176, PMID:8923378, PMID:9769329 ; - oboInOwl:hasDbXref UMLS:C1858558, - ORPHA:85414 ; oboInOwl:hasExactSynonym "rheumatoid arthritis, systemic juvenile", "systemic juvenile rheumatoid arthritis" ; + skos:exactMatch UMLS:C1858558, + ORPHA:85414 ; biolink:category biolink:Disease . OMIM:604307 a owl:Class ; @@ -428080,13 +444719,13 @@ OMIM:604307 a owl:Class ; PMID:3025877, PMID:8004095, PMID:8190472 ; - oboInOwl:hasDbXref UMLS:C1852438, - UMLS:C4721890 ; oboInOwl:hasExactSynonym "CTRCT2", "cataract 2, multiple types", "cataract 2, multiple types, with or without microcornea", "cataract, coppock-like" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1852438, + UMLS:C4721890 ; biolink:category biolink:Disease . OMIM:604316 a owl:Class ; @@ -428097,10 +444736,10 @@ OMIM:604316 a owl:Class ; PMID:16297188, PMID:18364739 ; RO:0002525 CHR:9606chr3q21 ; - oboInOwl:hasDbXref UMLS:C1858536 ; oboInOwl:hasExactSynonym "PSORS5", "psoriasis 5, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C1858536 ; biolink:category biolink:Disease . OMIM:604317 a owl:Class ; @@ -428114,10 +444753,10 @@ OMIM:604317 a owl:Class ; PMID:21834044, PMID:22775483, PMID:6737015 ; - oboInOwl:hasDbXref UMLS:C1858535 ; oboInOwl:hasExactSynonym "MCPH2", "microcephaly 2, primary, autosomal recessive, with or without cortical malformations" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C1858535 ; biolink:category biolink:Disease . OMIM:604320 a owl:Class ; @@ -428137,7 +444776,6 @@ OMIM:604320 a owl:Class ; PMID:8530062, PMID:8677029, PMID:9883726 ; - oboInOwl:hasDbXref UMLS:C1858517 ; oboInOwl:hasExactSynonym "DSMA1", "hmn 6", "hmn6", @@ -428147,6 +444785,7 @@ OMIM:604320 a owl:Class ; "spinal muscular atrophy with respiratory distress 1", "spinal muscular atrophy, diaphragmatic", "spinal muscular atrophy, distal, autosomal recessive, 1" ; + skos:exactMatch UMLS:C1858517 ; biolink:category biolink:Disease . OMIM:604321 a owl:Class ; @@ -428157,10 +444796,10 @@ OMIM:604321 a owl:Class ; PMID:22983954, PMID:26626498, PMID:27149178 ; - oboInOwl:hasDbXref UMLS:C1858516 ; oboInOwl:hasExactSynonym "MCPH4", "microcephaly 4, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C1858516 ; biolink:category biolink:Disease . OMIM:604326 a owl:Class ; @@ -428172,10 +444811,10 @@ OMIM:604326 a owl:Class ; PMID:11761478, PMID:16138911, PMID:8348150 ; - oboInOwl:hasDbXref UMLS:C1858501 ; oboInOwl:hasExactSynonym "SCA12", "spinocerebellar ataxia 12" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1858501 ; biolink:category biolink:Disease . OMIM:604329 a owl:Class ; @@ -428184,19 +444823,19 @@ OMIM:604329 a owl:Class ; PMID:10556304 ; RO:0002525 CHR:9606chr15q ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1858497 ; oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 2", "hyt2" ; + skos:exactMatch UMLS:C1858497 ; biolink:category biolink:Disease . OMIM:604348 a owl:Class ; rdfs:label "advanced sleep phase syndrome, familial, 1" ; IAO:0000142 PMID:10470086, PMID:11232563 ; - oboInOwl:hasDbXref UMLS:C3807327 ; oboInOwl:hasExactSynonym "FASPS1", "advanced sleep phase syndrome, familial, 1" ; rdfs:subClassOf OMIMPS:604348 ; + skos:exactMatch UMLS:C3807327 ; biolink:category biolink:Disease . OMIM:604350 a owl:Class ; @@ -428206,13 +444845,14 @@ OMIM:604350 a owl:Class ; PMID:12192047, PMID:21262767, PMID:9178809 ; - oboInOwl:hasDbXref UMLS:C1419208 ; oboInOwl:hasExactSynonym "RAB3D", "glioblastoma overexpressed", "ras-associated protein rab3d" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9545 ; - skos:exactMatch HGNC_symbol:RAB3D ; + skos:exactMatch UMLS:C1419208, + HGNC:9779, + HGNC_symbol:RAB3D ; biolink:category biolink:Gene . OMIM:604356 a owl:Class ; @@ -428226,11 +444866,11 @@ OMIM:604356 a owl:Class ; PMID:20034095, PMID:21555619, PMID:21715346 ; - oboInOwl:hasDbXref UMLS:C0751083, - ORPHA:233 ; oboInOwl:hasExactSynonym "DURS2", "duane retraction syndrome 2" ; rdfs:subClassOf OMIMPS:126800 ; + skos:exactMatch UMLS:C0751083, + ORPHA:233 ; biolink:category biolink:Disease . OMIM:604360 a owl:Class ; @@ -428253,13 +444893,13 @@ OMIM:604360 a owl:Class ; PMID:19438933, PMID:7561945, PMID:9855541 ; - oboInOwl:hasDbXref UMLS:C1858479 ; oboInOwl:hasExactSynonym "SPG11", "hsp-tcc", "spastic paraplegia 11, autosomal recessive", "spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum", "spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1858479 ; biolink:category biolink:Disease . OMIM:604364 a owl:Class ; @@ -428283,14 +444923,14 @@ OMIM:604364 a owl:Class ; PMID:8991790, PMID:9758605, PMID:9851433 ; - oboInOwl:hasDbXref UMLS:C1858477, - UMLS:C4551983, - ORPHA:98820 ; oboInOwl:hasExactSynonym "FFEVF1", "epilepsy, familial focal, with variable foci", "epilepsy, familial focal, with variable foci 1", "epilepsy, partial, with variable foci" ; rdfs:subClassOf OMIMPS:604364 ; + skos:exactMatch UMLS:C1858477, + UMLS:C4551983, + ORPHA:98820 ; biolink:category biolink:Disease . OMIM:604391 a owl:Class ; @@ -428303,11 +444943,11 @@ OMIM:604391 a owl:Class ; PMID:24332946, PMID:8445618, PMID:8684395 ; - oboInOwl:hasDbXref UMLS:C4012790 ; oboInOwl:hasExactSynonym "ATLD1", "ataxia-telangiectasia-like disorder 1", "atld" ; rdfs:subClassOf OMIMPS:604391 ; + skos:exactMatch UMLS:C4012790 ; biolink:category biolink:Disease . OMIM:604393 a owl:Class ; @@ -428321,15 +444961,15 @@ OMIM:604393 a owl:Class ; PMID:25596619, PMID:8944027, PMID:9326941 ; - oboInOwl:hasDbXref UMLS:C1858386, - ORPHA:1872, - ORPHA:65, - ORPHA:791 ; oboInOwl:hasExactSynonym "LCA4", "cone-rod dystrophy, aipl1-related", "leber congenital amaurosis 4", "retinitis pigmentosa, juvenile, aipl1-related" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C1858386, + ORPHA:1872, + ORPHA:65, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:604401 a owl:Class ; @@ -428337,25 +444977,26 @@ OMIM:604401 a owl:Class ; IAO:0000142 PMID:10631146, PMID:11054553 ; RO:0002525 CHR:9606chr10p14-p12 ; - oboInOwl:hasDbXref UMLS:C1858378 ; oboInOwl:hasExactSynonym "ARVD6", "arrhythmogenic right ventricular cardiomyopathy 6", "arrhythmogenic right ventricular dysplasia, familial, 6" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1858378 ; biolink:category biolink:Disease . OMIM:604412 a owl:Class ; rdfs:label "TCL6" ; IAO:0000142 PMID:10588720, PMID:10851082 ; - oboInOwl:hasDbXref UMLS:C1422004 ; oboInOwl:hasExactSynonym "TCL6", "t-cell leukemia/lymphoma 6", "tcl1-neighboring gene 1", "tcl1-neighboring gene 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:27004 ; - skos:exactMatch HGNC_symbol:TCL6 ; + skos:exactMatch UMLS:C1422004, + HGNC:13463, + HGNC_symbol:TCL6 ; biolink:category biolink:Gene . OMIM:604416 a owl:Class ; @@ -428365,20 +445006,20 @@ OMIM:604416 a owl:Class ; PMID:1165961, PMID:11971877, PMID:9212761 ; - oboInOwl:hasDbXref UMLS:C1858361 ; oboInOwl:hasExactSynonym "familial recurrent arthritis", "papa syndrome", "pyogenic sterile arthritis, pyoderma gangrenosum, and acne" ; + skos:exactMatch UMLS:C1858361 ; biolink:category biolink:Disease . OMIM:604432 a owl:Class ; rdfs:label "spinocerebellar ataxia 11" ; IAO:0000142 PMID:10417284, PMID:18037885 ; - oboInOwl:hasDbXref UMLS:C1858351 ; oboInOwl:hasExactSynonym "SCA11", "spinocerebellar ataxia 11" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1858351 ; biolink:category biolink:Disease . OMIM:604453 a owl:Class ; @@ -428393,7 +445034,6 @@ OMIM:604453 a owl:Class ; PMID:29443959, PMID:9786908, PMID:9858833 ; - oboInOwl:hasDbXref UMLS:C1417839 ; oboInOwl:hasExactSynonym "NR5A2", "cyp7a promoter-binding factor", "fetoprotein transcription factor", @@ -428402,7 +445042,9 @@ OMIM:604453 a owl:Class ; "nuclear receptor subfamily 5, group a, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2494 ; - skos:exactMatch HGNC_symbol:NR5A2 ; + skos:exactMatch UMLS:C1417839, + HGNC:7984, + HGNC_symbol:NR5A2 ; biolink:category biolink:Gene . OMIM:604454 a owl:Class ; @@ -428422,11 +445064,12 @@ OMIM:604454 a owl:Class ; PMID:6543900, PMID:9196908, PMID:9608564 ; - oboInOwl:hasDbXref UMLS:C0221054 ; oboInOwl:hasExactSynonym "WDM", "muscular dystrophy, distal, late-onset, autosomal dominant", "myopathy, distal, swedish", "welander distal myopathy" ; + rdfs:subClassOf OMIMPS:160500 ; + skos:exactMatch UMLS:C0221054 ; biolink:category biolink:Disease . OMIM:604457 a owl:Class ; @@ -428440,8 +445083,6 @@ OMIM:604457 a owl:Class ; PMID:7693701 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:607948 ; - oboInOwl:hasDbXref UMLS:C1415891, - UMLS:C1858343 ; oboInOwl:hasExactSynonym "SP110", "interferon-induced protein 41", "interferon-induced protein 75", @@ -428450,7 +445091,10 @@ OMIM:604457 a owl:Class ; "speckled, 110-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3431 ; - skos:exactMatch HGNC_symbol:SP110 ; + skos:exactMatch UMLS:C1415891, + UMLS:C1858343, + HGNC:5401, + HGNC_symbol:SP110 ; biolink:category biolink:Gene . OMIM:604484 a owl:Class ; @@ -428464,12 +445108,12 @@ OMIM:604484 a owl:Class ; PMID:23553329, PMID:25098539, PMID:9189038 ; - oboInOwl:hasDbXref UMLS:C1858338, - ORPHA:435819, - ORPHA:90117 ; oboInOwl:hasExactSynonym "HMSNO", "hereditary motor and sensory neuropathy, proximal type, formerly", "neuropathy, hereditary motor and sensory, okinawa iia" ; + skos:exactMatch UMLS:C1858338, + ORPHA:435819, + ORPHA:90117 ; biolink:category biolink:Disease . OMIM:604492 a owl:Class ; @@ -428488,14 +445132,15 @@ OMIM:604492 a owl:Class ; PMID:8420959, PMID:8726225, PMID:9733094 ; - oboInOwl:hasDbXref UMLS:C1336930 ; oboInOwl:hasExactSynonym "VDAC1", "omp2, yeast, human complement of", "porin", "voltage-dependent anion channel 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7416 ; - skos:exactMatch HGNC_symbol:VDAC1 ; + skos:exactMatch UMLS:C1336930, + HGNC:12669, + HGNC_symbol:VDAC1 ; biolink:category biolink:Gene . OMIM:604498 a owl:Class ; @@ -428506,9 +445151,9 @@ OMIM:604498 a owl:Class ; PMID:17054430, PMID:8073287, PMID:9029014 ; - oboInOwl:hasDbXref UMLS:C1327915 ; oboInOwl:hasExactSynonym "CAMT", "amegakaryocytic thrombocytopenia, congenital" ; + skos:exactMatch UMLS:C1327915 ; biolink:category biolink:Disease . OMIM:604499 a owl:Class ; @@ -428517,10 +445162,10 @@ OMIM:604499 a owl:Class ; PMID:30307446 ; RO:0002525 CHR:9606chr11p ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1858308 ; oboInOwl:hasExactSynonym "FCHL2", "hyperlipidemia, combined, 2", "hyperlipidemia, familial combined, 2" ; + skos:exactMatch UMLS:C1858308 ; biolink:category biolink:Disease . OMIM:604519 a owl:Class ; @@ -428541,10 +445186,10 @@ OMIM:604519 a owl:Class ; PMID:20228799, PMID:8841195 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C1858303 ; oboInOwl:hasExactSynonym "IBD3", "inflammatory bowel disease 3" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C1858303 ; biolink:category biolink:Disease . OMIM:604536 a owl:Class ; @@ -428556,11 +445201,11 @@ OMIM:604536 a owl:Class ; PMID:16781314, PMID:24073657, PMID:9326952 ; - oboInOwl:hasDbXref UMLS:C1858302, - ORPHA:158668 ; oboInOwl:hasExactSynonym "EDSFS", "ectodermal dysplasia/skin fragility syndrome", "mcgrath syndrome" ; + skos:exactMatch UMLS:C1858302, + ORPHA:158668 ; biolink:category biolink:Disease . OMIM:604537 a owl:Class ; @@ -428570,19 +445215,19 @@ OMIM:604537 a owl:Class ; PMID:13190865, PMID:16123401, PMID:17546029 ; - oboInOwl:hasDbXref UMLS:C1858301 ; oboInOwl:hasExactSynonym "LCA5", "leber congenital amaurosis 5" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C1858301 ; biolink:category biolink:Disease . OMIM:604547 a owl:Class ; rdfs:label "van der woude syndrome 1, modifier of" ; IAO:0000142 PMID:10417286, PMID:11303516 ; - oboInOwl:hasDbXref UMLS:C1858298 ; oboInOwl:hasExactSynonym "van der woude syndrome 1, modifier of", "vwsm" ; + skos:exactMatch UMLS:C1858298 ; biolink:category biolink:Disease . OMIM:604559 a owl:Class ; @@ -428599,11 +445244,11 @@ OMIM:604559 a owl:Class ; PMID:7882468, PMID:897853, PMID:9023172 ; - oboInOwl:hasDbXref UMLS:C1970298 ; oboInOwl:hasExactSynonym "PFHB1B", "pfhbib", "progressive familial heart block, iia 1b" ; rdfs:subClassOf OMIMPS:113900 ; + skos:exactMatch UMLS:C1970298 ; biolink:category biolink:Disease . OMIM:604595 a owl:Class ; @@ -428614,11 +445259,11 @@ OMIM:604595 a owl:Class ; PMID:2760205, PMID:9529261 ; RO:0002525 CHR:9606chr13q ; - oboInOwl:hasDbXref UMLS:C1858233 ; oboInOwl:hasExactSynonym "cholesterol level quantitative trait locus 1", "cholesterol level quantitative trait locus on chromosome 13", "cholesterol-lowering factor", "clqtl1" ; + skos:exactMatch UMLS:C1858233 ; biolink:category biolink:Disease . OMIM:604605 a owl:Class ; @@ -428637,9 +445282,6 @@ OMIM:604605 a owl:Class ; PMID:8910496, PMID:9139723, PMID:9285789 ; - oboInOwl:hasDbXref UMLS:C1537432, - UMLS:C2986382, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "KALRN", "duo", "huntingtin-associated protein-interacting protein", @@ -428647,7 +445289,11 @@ OMIM:604605 a owl:Class ; "serine/threonine protein kinase with dbl homology and pleckstrin homology domains" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8997 ; - skos:exactMatch HGNC_symbol:KALRN ; + skos:exactMatch UMLS:C1537432, + UMLS:C2986382, + UMLS:C4015968, + HGNC:4814, + HGNC_symbol:KALRN ; biolink:category biolink:Gene . OMIM:604609 a owl:Class ; @@ -428655,13 +445301,14 @@ OMIM:604609 a owl:Class ; IAO:0000142 PMID:10463611, PMID:17058067, PMID:17911254 ; - oboInOwl:hasDbXref UMLS:C1417492 ; oboInOwl:hasExactSynonym "MUC12", "mucin 11", "mucin 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10071 ; - skos:exactMatch HGNC_symbol:MUC12 ; + skos:exactMatch UMLS:C1417492, + HGNC:7510, + HGNC_symbol:MUC12 ; biolink:category biolink:Gene . OMIM:604625 a owl:Class ; @@ -428675,11 +445322,11 @@ OMIM:604625 a owl:Class ; PMID:16479262, PMID:16498076, PMID:7649547 ; - oboInOwl:hasDbXref UMLS:C1970291 ; oboInOwl:hasExactSynonym "STHAG3", "hypodontia/oligodontia 3", "tooth agenesis, selective, 3" ; rdfs:subClassOf OMIMPS:106600 ; + skos:exactMatch UMLS:C1970291 ; biolink:category biolink:Disease . OMIM:604686 a owl:Class ; @@ -428691,27 +445338,29 @@ OMIM:604686 a owl:Class ; PMID:8290273, PMID:9627117, PMID:9891067 ; - oboInOwl:hasDbXref UMLS:C1332071 ; oboInOwl:hasExactSynonym "AKAP13", "a-kinase anchor protein 13", "breast cancer cdna-encoded nuclear receptor-binding auxiliary protein 1", "lymphoid blast crisis oncogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11214 ; - skos:exactMatch HGNC_symbol:AKAP13 ; + skos:exactMatch UMLS:C1332071, + HGNC:371, + HGNC_symbol:AKAP13 ; biolink:category biolink:Gene . OMIM:604702 a owl:Class ; rdfs:label "HMGXB4" ; IAO:0000142 PMID:10329004 ; - oboInOwl:hasDbXref UMLS:C1415613 ; oboInOwl:hasExactSynonym "HMGXB4", "high mobility group protein 2-like 1", "hmg box domain-containing 4", "thc211630" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10042 ; - skos:exactMatch HGNC_symbol:HMGXB4 ; + skos:exactMatch UMLS:C1415613, + HGNC:5003, + HGNC_symbol:HMGXB4 ; biolink:category biolink:Gene . OMIM:604715 a owl:Class ; @@ -428723,12 +445372,12 @@ OMIM:604715 a owl:Class ; PMID:770030, PMID:7746369, PMID:9244228 ; - oboInOwl:hasDbXref UMLS:C1535893 ; oboInOwl:hasExactSynonym "irritable heart", "mitral valve prolapse syndrome", "neurocirculatory asthenia", "orthostatic intolerance", "soldiers heart" ; + skos:exactMatch UMLS:C1535893 ; biolink:category biolink:Disease . OMIM:604717 a owl:Class ; @@ -428740,11 +445389,11 @@ OMIM:604717 a owl:Class ; PMID:16773128, PMID:19477959, PMID:5654493 ; - oboInOwl:hasDbXref UMLS:C1858172 ; oboInOwl:hasExactSynonym "DFNA20", "deafness, autosomal dominant 20", "dfna26" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1858172 ; biolink:category biolink:Disease . OMIM:604747 a owl:Class ; @@ -428754,27 +445403,29 @@ OMIM:604747 a owl:Class ; PMID:10830911, PMID:9827568, PMID:9925951 ; - oboInOwl:hasDbXref UMLS:C1420320 ; oboInOwl:hasExactSynonym "SOX14", "sox28", "sry-box 14", "sry-related hmg-box gene 14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8403 ; - skos:exactMatch HGNC_symbol:SOX14 ; + skos:exactMatch UMLS:C1420320, + HGNC:11193, + HGNC_symbol:SOX14 ; biolink:category biolink:Gene . OMIM:604753 a owl:Class ; rdfs:label "ZNF268" ; IAO:0000142 PMID:11311945, PMID:7865130 ; - oboInOwl:hasDbXref UMLS:C1421755 ; oboInOwl:hasExactSynonym "ZNF268", "hzf3", "zinc finger protein 268" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10795 ; - skos:exactMatch HGNC_symbol:ZNF268 ; + skos:exactMatch UMLS:C1421755, + HGNC:13061, + HGNC_symbol:ZNF268 ; biolink:category biolink:Gene . OMIM:604772 a owl:Class ; @@ -428790,21 +445441,21 @@ OMIM:604772 a owl:Class ; PMID:31913406, PMID:7867192, PMID:9717857 ; - oboInOwl:hasDbXref UMLS:C1631597, - ORPHA:3286 ; oboInOwl:hasExactSynonym "CPVT1", "ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy", "ventricular tachycardia, stress-induced polymorphic" ; rdfs:subClassOf OMIMPS:604772 ; + skos:exactMatch UMLS:C1631597, + ORPHA:3286 ; biolink:category biolink:Disease . OMIM:604801 a owl:Class ; rdfs:label "muscular dystrophy, congenital, 1b" ; IAO:0000142 PMID:10677302 ; RO:0002525 CHR:9606chr1q42 ; - oboInOwl:hasDbXref UMLS:C1858118 ; oboInOwl:hasExactSynonym "MDC1B", "muscular dystrophy, congenital, 1b" ; + skos:exactMatch UMLS:C1858118 ; biolink:category biolink:Disease . OMIM:604802 a owl:Class ; @@ -428814,11 +445465,11 @@ OMIM:604802 a owl:Class ; PMID:11761463, PMID:27605280 ; RO:0002525 CHR:9606chr4p15.3 ; - oboInOwl:hasDbXref UMLS:C1858114, - ORPHA:157946 ; oboInOwl:hasExactSynonym "HDL3", "huntington disease-like 3", "huntington disease-like neurodegenerative disorder, autosomal recessive" ; + skos:exactMatch UMLS:C1858114, + ORPHA:157946 ; biolink:category biolink:Disease . OMIM:604804 a owl:Class ; @@ -428830,10 +445481,10 @@ OMIM:604804 a owl:Class ; PMID:23726037, PMID:23995685, PMID:27761245 ; - oboInOwl:hasDbXref UMLS:C1858108 ; oboInOwl:hasExactSynonym "MCPH3", "microcephaly 3, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C1858108 ; biolink:category biolink:Disease . OMIM:604805 a owl:Class ; @@ -428843,10 +445494,10 @@ OMIM:604805 a owl:Class ; PMID:12427890, PMID:22232211, PMID:27165006 ; - oboInOwl:hasDbXref UMLS:C1858106 ; oboInOwl:hasExactSynonym "SPG12", "spastic paraplegia 12, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1858106 ; biolink:category biolink:Disease . OMIM:604827 a owl:Class ; @@ -428856,26 +445507,27 @@ OMIM:604827 a owl:Class ; PMID:9259280, PMID:9262125 ; RO:0002525 CHR:9606chr15q14 ; - oboInOwl:hasDbXref UMLS:C2751729, - UMLS:C3887932 ; oboInOwl:hasExactSynonym "EIG7", "epilepsy, idiopathic generalized, susceptibility to, 7", "myoclonic epilepsy, juvenile, 2" ; rdfs:subClassOf OMIMPS:254770, OMIMPS:600669 ; + skos:exactMatch UMLS:C2751729, + UMLS:C3887932 ; biolink:category biolink:Disease . OMIM:604849 a owl:Class ; rdfs:label "TAAR2" ; IAO:0000142 PMID:10684976, PMID:15718104 ; - oboInOwl:hasDbXref UMLS:C1539909 ; oboInOwl:hasExactSynonym "TAAR2", "g protein-coupled receptor 58", "trace amine-associated receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9287 ; - skos:exactMatch HGNC_symbol:TAAR2 ; + skos:exactMatch UMLS:C1539909, + HGNC:4514, + HGNC_symbol:TAAR2 ; biolink:category biolink:Gene . OMIM:604906 a owl:Class ; @@ -428891,11 +445543,11 @@ OMIM:604906 a owl:Class ; PMID:18164685, PMID:19414483, PMID:4902547 ; - oboInOwl:hasDbXref UMLS:C1858050 ; oboInOwl:hasExactSynonym "SCZD9", "schizophrenia 9", "schizophrenia 9 with or without an affective disorder", "schizophrenia susceptibility locus, chromosome 1q42-related" ; + skos:exactMatch UMLS:C1858050 ; biolink:category biolink:Disease . OMIM:604928 a owl:Class ; @@ -428905,9 +445557,9 @@ OMIM:604928 a owl:Class ; PMID:19451219, PMID:25056293, PMID:25371195 ; - oboInOwl:hasDbXref UMLS:C1858028 ; oboInOwl:hasExactSynonym "WFS2", "wolfram syndrome 2" ; + skos:exactMatch UMLS:C1858028 ; biolink:category biolink:Disease . OMIM:604931 a owl:Class ; @@ -428922,10 +445574,10 @@ OMIM:604931 a owl:Class ; PMID:3990293, PMID:8370690, PMID:8923828 ; - oboInOwl:hasDbXref UMLS:C3551716 ; oboInOwl:hasExactSynonym "CORTRD1", "cortisone reductase deficiency 1" ; rdfs:subClassOf OMIMPS:604931 ; + skos:exactMatch UMLS:C3551716 ; biolink:category biolink:Disease . OMIM:604946 a owl:Class ; @@ -428956,9 +445608,6 @@ OMIM:604946 a owl:Class ; PMID:9922396 ; RO:0002525 CHR:9606chr19q13.42 ; RO:0003303 OMIM:609423 ; - oboInOwl:hasDbXref UMLS:C1416652, - UMLS:C1416654, - UMLS:C4016912 ; oboInOwl:hasExactSynonym "KIR3DL1", "amb11", "cd158e1", @@ -428971,7 +445620,11 @@ OMIM:604946 a owl:Class ; "nkb1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3811 ; - skos:exactMatch HGNC_symbol:KIR3DL1 ; + skos:exactMatch UMLS:C1416652, + UMLS:C1416654, + UMLS:C4016912, + HGNC:6338, + HGNC_symbol:KIR3DL1 ; biolink:category biolink:Gene . OMIM:604966 a owl:Class ; @@ -428991,11 +445644,12 @@ OMIM:604966 a owl:Class ; PMID:17172445, PMID:28450637, PMID:9655502 ; - oboInOwl:hasDbXref UMLS:C1418311 ; oboInOwl:hasExactSynonym "PCDHA@", "pcdh-alpha gene cluster", "protocadherin-alpha gene cluster" ; - skos:exactMatch . + skos:exactMatch UMLS:C1418311, + HGNC:8662, + . OMIM:604967 a owl:Class ; rdfs:label "protocadherin-beta gene cluster" ; @@ -429006,11 +445660,12 @@ OMIM:604967 a owl:Class ; PMID:15777644, PMID:16341467, PMID:28450637 ; - oboInOwl:hasDbXref UMLS:C1418328 ; oboInOwl:hasExactSynonym "PCDHB@", "pcdh-beta gene cluster", "protocadherin-beta gene cluster" ; - skos:exactMatch . + skos:exactMatch UMLS:C1418328, + HGNC:8679, + . OMIM:604968 a owl:Class ; rdfs:label "protocadherin-gamma gene cluster" ; @@ -429023,25 +445678,27 @@ OMIM:604968 a owl:Class ; PMID:17110050, PMID:22842903, PMID:28450637 ; - oboInOwl:hasDbXref UMLS:C1418344 ; oboInOwl:hasExactSynonym "PCDHG@", "pcdh-gamma gene cluster", "protocadherin-gamma gene cluster" ; - skos:exactMatch . + skos:exactMatch UMLS:C1418344, + HGNC:8695, + . OMIM:604974 a owl:Class ; rdfs:label "SOX21" ; IAO:0000142 PMID:10441749, PMID:15995704, PMID:9827568 ; - oboInOwl:hasDbXref UMLS:C1420324 ; oboInOwl:hasExactSynonym "SOX21", "sox25", "sry-box 21", "sry-related hmg-box gene 21" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:11166 ; - skos:exactMatch HGNC_symbol:SOX21 ; + skos:exactMatch UMLS:C1420324, + HGNC:11197, + HGNC_symbol:SOX21 ; biolink:category biolink:Gene . OMIM:604985 a owl:Class ; @@ -429060,14 +445717,15 @@ OMIM:604985 a owl:Class ; PMID:9826670 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:615386 ; - oboInOwl:hasDbXref UMLS:C1420389 ; oboInOwl:hasExactSynonym "SPTBN2", "glutamate transporter eaat4-associated protein 41", "spectrin, beta, nonerythrocytic, 2", "spectrin, beta-iii" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6712 ; - skos:exactMatch HGNC_symbol:SPTBN2 ; + skos:exactMatch UMLS:C1420389, + HGNC:11276, + HGNC_symbol:SPTBN2 ; biolink:category biolink:Gene . OMIM:605019 a owl:Class ; @@ -429084,10 +445742,10 @@ OMIM:605019 a owl:Class ; PMID:28538111, PMID:28538136, PMID:9508071 ; - oboInOwl:hasDbXref UMLS:C1857970 ; oboInOwl:hasExactSynonym "FHBL2", "hypobetalipoproteinemia, familial, 2", "hypolipidemia, familial, combined" ; + skos:exactMatch UMLS:C1857970 ; biolink:category biolink:Disease . OMIM:605021 a owl:Class ; @@ -429096,11 +445754,11 @@ OMIM:605021 a owl:Class ; PMID:20727515, PMID:20797691, PMID:23517570 ; - oboInOwl:hasDbXref UMLS:C0917800, - ORPHA:352582 ; oboInOwl:hasExactSynonym "FIME", "eim", "myoclonic epilepsy, familial infantile" ; + skos:exactMatch UMLS:C0917800, + ORPHA:352582 ; biolink:category biolink:Disease . OMIM:605041 a owl:Class ; @@ -429122,11 +445780,11 @@ OMIM:605041 a owl:Class ; PMID:7684205, PMID:8835176, PMID:9504671 ; - oboInOwl:hasDbXref UMLS:C1857941 ; oboInOwl:hasExactSynonym "BRSS", "brooke-spiegler syndrome", "bss", "spiegler-brooke syndrome" ; + skos:exactMatch UMLS:C1857941 ; biolink:category biolink:Disease . OMIM:605096 a owl:Class ; @@ -429135,7 +445793,6 @@ OMIM:605096 a owl:Class ; PMID:14981236, PMID:15375614, PMID:15761874 ; - oboInOwl:hasDbXref UMLS:C1539993 ; oboInOwl:hasExactSynonym "ANO7", "anoctamin 7", "dresden transmembrane protein of prostate", @@ -429145,7 +445802,9 @@ OMIM:605096 a owl:Class ; "transmembrane protein 16g" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:50636 ; - skos:exactMatch HGNC_symbol:ANO7 ; + skos:exactMatch UMLS:C1539993, + HGNC:31677, + HGNC_symbol:ANO7 ; biolink:category biolink:Gene . OMIM:605130 a owl:Class ; @@ -429161,11 +445820,11 @@ OMIM:605130 a owl:Class ; PMID:2773989, PMID:5519603, PMID:7802037 ; - oboInOwl:hasDbXref UMLS:C1854630, - ORPHA:319182 ; oboInOwl:hasExactSynonym "WDSTS", "hairy elbows, short stature, facial dysmorphism, and developmental delay", "wiedemann-steiner syndrome" ; + skos:exactMatch UMLS:C1854630, + ORPHA:319182 ; biolink:category biolink:Disease . OMIM:605158 a owl:Class ; @@ -429180,7 +445839,6 @@ OMIM:605158 a owl:Class ; PMID:9039502 ; RO:0002525 CHR:9606chr2p25.3 ; RO:0003303 OMIM:269400 ; - oboInOwl:hasDbXref UMLS:C1826745 ; oboInOwl:hasExactSynonym "PXDN", "d2s448", "melanoma-associated gene 50", @@ -429191,17 +445849,19 @@ OMIM:605158 a owl:Class ; "vascular peroxidase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7837 ; - skos:exactMatch HGNC_symbol:PXDN ; + skos:exactMatch UMLS:C1826745, + HGNC:14966, + HGNC_symbol:PXDN ; biolink:category biolink:Gene . OMIM:605192 a owl:Class ; rdfs:label "deafness, autosomal dominant 23" ; IAO:0000142 PMID:10777717, PMID:15141091 ; - oboInOwl:hasDbXref UMLS:C1854594 ; oboInOwl:hasExactSynonym "DFNA23", "deafness, autosomal dominant 23" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1854594 ; biolink:category biolink:Disease . OMIM:605201 a owl:Class ; @@ -429210,9 +445870,9 @@ OMIM:605201 a owl:Class ; PMID:19060906, PMID:21909109 ; RO:0002525 CHR:9606chr11q23.3 ; - oboInOwl:hasDbXref UMLS:C3551749 ; oboInOwl:hasExactSynonym "HDLCQ14", "high density lipoprotein cholesterol level quantitative trait locus 14" ; + skos:exactMatch UMLS:C3551749 ; biolink:category biolink:Disease . OMIM:605205 a owl:Class ; @@ -429224,23 +445884,24 @@ OMIM:605205 a owl:Class ; PMID:9874775 ; RO:0002525 CHR:9606chr1q24.2 ; RO:0003303 OMIM:143870 ; - oboInOwl:hasDbXref UMLS:C1854580 ; oboInOwl:hasExactSynonym "ADCY10", "adenylate cyclase 10", "adenylyl cyclase, soluble", "soluble adenylyl cyclase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55811 ; - skos:exactMatch HGNC_symbol:ADCY10 ; + skos:exactMatch UMLS:C1854580, + HGNC:21285, + HGNC_symbol:ADCY10 ; biolink:category biolink:Gene . OMIM:605218 a owl:Class ; rdfs:label "systemic lupus erythematosus, susceptibility to, 2" ; IAO:0000142 PMID:10677248, PMID:12402038 ; - oboInOwl:hasDbXref UMLS:C1854577 ; oboInOwl:hasExactSynonym "SLEB2", "systemic lupus erythematosus, susceptibility to, 2" ; + skos:exactMatch UMLS:C1854577 ; biolink:category biolink:Disease . OMIM:605225 a owl:Class ; @@ -429252,20 +445913,20 @@ OMIM:605225 a owl:Class ; PMID:20228799, PMID:9636179 ; RO:0002525 CHR:9606chr1p36 ; - oboInOwl:hasDbXref UMLS:C1854573 ; oboInOwl:hasExactSynonym "IBD7", "inflammatory bowel disease 7" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C1854573 ; biolink:category biolink:Disease . OMIM:605229 a owl:Class ; rdfs:label "spastic paraplegia 14, autosomal recessive" ; IAO:0000142 PMID:10877981 ; RO:0002525 CHR:9606chr3q27-q28 ; - oboInOwl:hasDbXref UMLS:C1854568 ; oboInOwl:hasExactSynonym "SPG14", "spastic paraplegia 14, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1854568 ; biolink:category biolink:Disease . OMIM:605232 a owl:Class ; @@ -429301,7 +445962,6 @@ OMIM:605232 a owl:Class ; PMID:9205841 ; RO:0002525 CHR:9606chr12p13.33 ; RO:0003303 OMIM:614492 ; - oboInOwl:hasDbXref UMLS:C1538110 ; oboInOwl:hasExactSynonym "WNK1", "kdp", "kiaa0344", @@ -429311,7 +445971,9 @@ OMIM:605232 a owl:Class ; "wnk1/hsn2 isoform" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:65125 ; - skos:exactMatch HGNC_symbol:WNK1 ; + skos:exactMatch UMLS:C1538110, + HGNC:14540, + HGNC_symbol:WNK1 ; biolink:category biolink:Gene . OMIM:605244 a owl:Class ; @@ -429323,10 +445985,10 @@ OMIM:605244 a owl:Class ; PMID:8855810, PMID:9104925 ; RO:0002525 CHR:9606chr2p16 ; - oboInOwl:hasDbXref UMLS:C1854540 ; oboInOwl:hasExactSynonym "CNC2", "carney complex, iia 2", "carney myxoma-endocrine complex, iia 2" ; + skos:exactMatch UMLS:C1854540 ; biolink:category biolink:Disease . OMIM:605253 a owl:Class ; @@ -429336,9 +445998,6 @@ OMIM:605253 a owl:Class ; PMID:22522483, PMID:4087003, PMID:9537424 ; - oboInOwl:hasDbXref UMLS:C4721436, - UMLS:C4721437, - ORPHA:99951 ; oboInOwl:hasExactSynonym "CHN1", "charcot-marie-tooth disease, iia 4e", "charcot-marie-tooth neuropathy, iia 4e", @@ -429348,6 +446007,9 @@ OMIM:605253 a owl:Class ; "neuropathy, congenital hypomyelinating, 1, autosomal recessive" ; rdfs:subClassOf OMIMPS:118220, OMIMPS:605253 ; + skos:exactMatch UMLS:C4721436, + UMLS:C4721437, + ORPHA:99951 ; biolink:category biolink:Disease . OMIM:605258 a owl:Class ; @@ -429358,11 +446020,11 @@ OMIM:605258 a owl:Class ; PMID:7916370, PMID:9058789, PMID:9842907 ; - oboInOwl:hasDbXref UMLS:C1720956 ; oboInOwl:hasExactSynonym "HIGM2", "hyper-igm syndrome 2", "immunodeficiency with hyper-igm, iia 2" ; rdfs:subClassOf OMIMPS:308230 ; + skos:exactMatch UMLS:C1720956 ; biolink:category biolink:Disease . OMIM:605259 a owl:Class ; @@ -429373,10 +446035,10 @@ OMIM:605259 a owl:Class ; PMID:23912307, PMID:25497598, PMID:25981959 ; - oboInOwl:hasDbXref UMLS:C1854488 ; oboInOwl:hasExactSynonym "SCA13", "spinocerebellar ataxia 13" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1854488 ; biolink:category biolink:Disease . OMIM:605271 a owl:Class ; @@ -429386,14 +446048,15 @@ OMIM:605271 a owl:Class ; PMID:15461625, PMID:8670294, PMID:9689066 ; - oboInOwl:hasDbXref UMLS:C1423896 ; oboInOwl:hasExactSynonym "SERPINA10", "protein z-dependent protease inhibitor precursor", "regeneration-associated serpin 1", "serpin peptidase inhibitor, clade a, member 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51156 ; - skos:exactMatch HGNC_symbol:SERPINA10 ; + skos:exactMatch UMLS:C1423896, + HGNC:15996, + HGNC_symbol:SERPINA10 ; biolink:category biolink:Gene . OMIM:605280 a owl:Class ; @@ -429401,10 +446064,10 @@ OMIM:605280 a owl:Class ; IAO:0000142 PMID:10677329, PMID:11898127, PMID:17420924 ; - oboInOwl:hasDbXref UMLS:C1854467 ; oboInOwl:hasExactSynonym "SPG13", "spastic paraplegia 13, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1854467 ; biolink:category biolink:Disease . OMIM:605282 a owl:Class ; @@ -429414,10 +446077,10 @@ OMIM:605282 a owl:Class ; PMID:21129727, PMID:21129728, PMID:9823490 ; - oboInOwl:hasDbXref UMLS:C1854466 ; oboInOwl:hasExactSynonym "TPBS", "preaxial brachydactyly syndrome, temtamy iia", "temtamy preaxial brachydactyly syndrome" ; + skos:exactMatch UMLS:C1854466 ; biolink:category biolink:Disease . OMIM:605289 a owl:Class ; @@ -429427,10 +446090,10 @@ OMIM:605289 a owl:Class ; PMID:16688749, PMID:22147889, PMID:3366140 ; - oboInOwl:hasDbXref UMLS:C1854442 ; oboInOwl:hasExactSynonym "SHFM4", "split-hand/foot malformation 4" ; rdfs:subClassOf OMIMPS:183600 ; + skos:exactMatch UMLS:C1854442 ; biolink:category biolink:Disease . OMIM:605293 a owl:Class ; @@ -429440,10 +446103,10 @@ OMIM:605293 a owl:Class ; PMID:6580816, PMID:9429135 ; RO:0002525 CHR:9606chr18q12.2-q12.3 ; - oboInOwl:hasDbXref UMLS:C1854430 ; oboInOwl:hasExactSynonym "OPA4", "optic atrophy 4" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C1854430 ; biolink:category biolink:Disease . OMIM:605313 a owl:Class ; @@ -429459,14 +446122,15 @@ OMIM:605313 a owl:Class ; PMID:22366785 ; RO:0002525 CHR:9606chr1q21.1 ; RO:0003303 OMIM:274000 ; - oboInOwl:hasDbXref UMLS:C1419303 ; oboInOwl:hasExactSynonym "RBM8A", "rna-binding motif protein 8", "rna-binding motif protein 8a", "y14" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9939 ; - skos:exactMatch HGNC_symbol:RBM8A ; + skos:exactMatch UMLS:C1419303, + HGNC:9905, + HGNC_symbol:RBM8A ; biolink:category biolink:Gene . OMIM:605317 a owl:Class ; @@ -429496,28 +446160,29 @@ OMIM:605317 a owl:Class ; PMID:9225980 ; RO:0002525 CHR:9606chr7q31.1 ; RO:0003303 OMIM:602081 ; - oboInOwl:hasDbXref UMLS:C0750927, - UMLS:C1422249 ; oboInOwl:hasExactSynonym "FOXP2", "cagh44", "forkhead box p2", "trinucleotide repeat-containing gene 10" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:93986 ; - skos:exactMatch HGNC_symbol:FOXP2 ; + skos:exactMatch UMLS:C0750927, + UMLS:C1422249, + HGNC:13875, + HGNC_symbol:FOXP2 ; biolink:category biolink:Gene . OMIM:605355 a owl:Class ; rdfs:label "nemaline myopathy 5" ; IAO:0000142 PMID:10952871, PMID:29931346 ; - oboInOwl:hasDbXref UMLS:C1854380, - ORPHA:98902 ; oboInOwl:hasExactSynonym "NEM5", "amish nemaline myopathy", "nemaline myopathy 5", "nemaline myopathy, amish iia" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C1854380, + ORPHA:98902 ; biolink:category biolink:Disease . OMIM:605361 a owl:Class ; @@ -429534,10 +446199,10 @@ OMIM:605361 a owl:Class ; PMID:17562946, PMID:19561170, PMID:22675081 ; - oboInOwl:hasDbXref UMLS:C1854369 ; oboInOwl:hasExactSynonym "SCA14", "spinocerebellar ataxia 14" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1854369 ; biolink:category biolink:Disease . OMIM:605363 a owl:Class ; @@ -429562,16 +446227,17 @@ OMIM:605363 a owl:Class ; PMID:9326630 ; RO:0002525 CHR:9606chr2q31.1 ; RO:0003303 OMIM:619124 ; - oboInOwl:hasDbXref UMLS:C1414925, - UMLS:C2751938, - UMLS:C5436853 ; oboInOwl:hasExactSynonym "GAD1", "gad", "glutamate decarboxylase 1", "glutamate decarboxylase, brain, 67-kd" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2571 ; - skos:exactMatch HGNC_symbol:GAD1 ; + skos:exactMatch UMLS:C1414925, + UMLS:C2751938, + UMLS:C5436853, + HGNC:4092, + HGNC_symbol:GAD1 ; biolink:category biolink:Gene . OMIM:605364 a owl:Class ; @@ -429581,10 +446247,10 @@ OMIM:605364 a owl:Class ; PMID:19525279, PMID:21655935 ; RO:0002525 CHR:9606chr19p13 ; - oboInOwl:hasDbXref UMLS:C1854366 ; oboInOwl:hasExactSynonym "PSORS6", "psoriasis 6, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C1854366 ; biolink:category biolink:Disease . OMIM:605373 a owl:Class ; @@ -429595,11 +446261,11 @@ OMIM:605373 a owl:Class ; PMID:15342702, PMID:16249420, PMID:21348866 ; - oboInOwl:hasDbXref UMLS:C1854336 ; oboInOwl:hasExactSynonym "PGL3", "glomus tumors, familial, 3", "paragangliomas 3" ; rdfs:subClassOf OMIMPS:168000 ; + skos:exactMatch UMLS:C1854336 ; biolink:category biolink:Disease . OMIM:605375 a owl:Class ; @@ -429608,10 +446274,10 @@ OMIM:605375 a owl:Class ; PMID:11094099, PMID:11104662, PMID:19153075 ; - oboInOwl:hasDbXref UMLS:C1854335 ; oboInOwl:hasExactSynonym "ENFL3", "epilepsy, nocturnal frontal lobe, 3" ; rdfs:subClassOf OMIMPS:600513 ; + skos:exactMatch UMLS:C1854335 ; biolink:category biolink:Disease . OMIM:605387 a owl:Class ; @@ -429619,12 +446285,12 @@ OMIM:605387 a owl:Class ; IAO:0000142 PMID:10682967, PMID:10909854, PMID:17701905 ; - oboInOwl:hasDbXref UMLS:C1854311, - ORPHA:91492 ; oboInOwl:hasExactSynonym "CTRCT31", "cataract 31, multiple types", "cataract, posterior polar, 3" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1854311, + ORPHA:91492 ; biolink:category biolink:Disease . OMIM:605388 a owl:Class ; @@ -429634,24 +446300,24 @@ OMIM:605388 a owl:Class ; PMID:3592729, PMID:8044647 ; RO:0002525 CHR:9606chr9p12-q12 ; - oboInOwl:hasDbXref UMLS:C0394005 ; oboInOwl:hasExactSynonym "acp", "ataxic cerebral palsy", "cerebral palsy, ataxic, autosomal recessive" ; + skos:exactMatch UMLS:C0394005 ; biolink:category biolink:Disease . OMIM:605389 a owl:Class ; rdfs:label "hypotrichosis 1" ; IAO:0000142 PMID:10878665, PMID:20393562 ; - oboInOwl:hasDbXref UMLS:C1854310, - UMLS:C4551976, - ORPHA:55654 ; oboInOwl:hasExactSynonym "HYPT1", "hts", "hypotrichosis 1", "hypotrichosis simplex, generalized, hereditary" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C1854310, + UMLS:C4551976, + ORPHA:55654 ; biolink:category biolink:Disease . OMIM:605407 a owl:Class ; @@ -429669,12 +446335,12 @@ OMIM:605407 a owl:Class ; PMID:8528210, PMID:8817341, PMID:9732974 ; - oboInOwl:hasDbXref UMLS:C2673535 ; oboInOwl:hasExactSynonym "dopa-responsive dystonia, autosomal recessive", "dystonia, dopa-responsive, autosomal recessive", "parkinsonism, infantile, autosomal recessive", "segawa syndrome, autosomal recessive", "tyrosine hydroxylase deficiency" ; + skos:exactMatch UMLS:C2673535 ; biolink:category biolink:Disease . OMIM:605419 a owl:Class ; @@ -429685,11 +446351,11 @@ OMIM:605419 a owl:Class ; PMID:7669819, PMID:8725746 ; RO:0002525 CHR:9606chr15q15 ; - oboInOwl:hasDbXref UMLS:C0543918 ; oboInOwl:hasExactSynonym "SCZD10", "catatonia, periodic", "schizophrenia 10", "schizophrenia susceptibility locus, chromosome 15q15-related" ; + skos:exactMatch UMLS:C0543918 ; biolink:category biolink:Disease . OMIM:605428 a owl:Class ; @@ -429697,10 +446363,10 @@ OMIM:605428 a owl:Class ; IAO:0000142 PMID:11101839, PMID:11256068, PMID:29408807 ; - oboInOwl:hasDbXref UMLS:C1854275 ; oboInOwl:hasExactSynonym "DFNB26", "deafness, autosomal recessive 26" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1854275 ; biolink:category biolink:Disease . OMIM:605429 a owl:Class ; @@ -429708,12 +446374,12 @@ OMIM:605429 a owl:Class ; IAO:0000142 PMID:11101839, PMID:29408807 ; RO:0002525 CHR:9606chr1q24 ; - oboInOwl:hasDbXref UMLS:C1854274 ; oboInOwl:hasExactSynonym "DFNB26M", "deafness, autosomal recessive 26, modifier of", "deafness, nonsyndromic, modifier of, 1", "dfnb26, modifier of", "dfnb26, suppressor of" ; + skos:exactMatch UMLS:C1854274 ; biolink:category biolink:Disease . OMIM:605432 a owl:Class ; @@ -429721,13 +446387,13 @@ OMIM:605432 a owl:Class ; IAO:0000142 PMID:11101832, PMID:11442476, PMID:26581901 ; - oboInOwl:hasDbXref UMLS:C1854273, - UMLS:C4551975 ; oboInOwl:hasExactSynonym "RUSAT1", "radioulnar synostosis with amegakaryocytic thrombocytopenia 1", "rusat", "thrombocytopenia, congenital, with radioulnar synostosis" ; rdfs:subClassOf OMIMPS:605432 ; + skos:exactMatch UMLS:C1854273, + UMLS:C4551975 ; biolink:category biolink:Disease . OMIM:605462 a owl:Class ; @@ -429748,21 +446414,21 @@ OMIM:605462 a owl:Class ; PMID:9620294, PMID:9931336 ; RO:0002525 CHR:9606chr1p36 ; - oboInOwl:hasDbXref UMLS:C1854245, - UMLS:C2751544, - UMLS:C2751545 ; oboInOwl:hasExactSynonym "BCC1", "basal cell carcinoma, multiple", "basal cell carcinoma, nonsyndromic", "basal cell carcinoma, susceptibility to, 1" ; + skos:exactMatch UMLS:C1854245, + UMLS:C2751544, + UMLS:C2751545 ; biolink:category biolink:Disease . OMIM:605463 a owl:Class ; rdfs:label "radiation sensitivity/chromosome instability syndrome, autosomal dominant" ; IAO:0000142 PMID:11038437 ; RO:0002525 CHR:9606chr14q11.2 ; - oboInOwl:hasDbXref UMLS:C1854244 ; - oboInOwl:hasExactSynonym "radiation sensitivity/chromosome instability syndrome, autosomal dominant" . + oboInOwl:hasExactSynonym "radiation sensitivity/chromosome instability syndrome, autosomal dominant" ; + skos:exactMatch UMLS:C1854244 . OMIM:605480 a owl:Class ; rdfs:label "systemic lupus erythematosus, susceptibility to, 3" ; @@ -429770,9 +446436,9 @@ OMIM:605480 a owl:Class ; PMID:12136236, PMID:16983533 ; RO:0002525 CHR:9606chr4p16-p15.2 ; - oboInOwl:hasDbXref UMLS:C1854235 ; oboInOwl:hasExactSynonym "SLEB3", "systemic lupus erythematosus, susceptibility to, 3" ; + skos:exactMatch UMLS:C1854235 ; biolink:category biolink:Disease . OMIM:605526 a owl:Class ; @@ -429800,12 +446466,12 @@ OMIM:605526 a owl:Class ; PMID:20142614, PMID:21280075 ; RO:0002525 CHR:9606chr10q24 ; - oboInOwl:hasDbXref UMLS:C1854187, - UMLS:C2676409 ; oboInOwl:hasExactSynonym "ad6", "alzheimer disease 6", "alzheimer disease 6, late-onset", "plasma beta-amyloid-42 level quantitative trait locus" ; + skos:exactMatch UMLS:C1854187, + UMLS:C2676409 ; biolink:category biolink:Disease . OMIM:605535 a owl:Class ; @@ -429813,13 +446479,14 @@ OMIM:605535 a owl:Class ; IAO:0000142 PMID:10773667, PMID:11207365, PMID:9784132 ; - oboInOwl:hasDbXref UMLS:C1415612 ; oboInOwl:hasExactSynonym "HMG20B", "brca2-associated factor, 35-kd", "high mobility group protein 20b" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10362 ; - skos:exactMatch HGNC_symbol:HMG20B ; + skos:exactMatch UMLS:C1415612, + HGNC:5002, + HGNC_symbol:HMG20B ; biolink:category biolink:Gene . OMIM:605543 a owl:Class ; @@ -429833,11 +446500,11 @@ OMIM:605543 a owl:Class ; PMID:8285594, PMID:9629847, PMID:9887334 ; - oboInOwl:hasDbXref UMLS:C1854182 ; oboInOwl:hasExactSynonym "PARK4", "parkinson disease 4, autosomal dominant", "parkinson disease 4, autosomal dominant lewy body" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1854182 ; biolink:category biolink:Disease . OMIM:605544 a owl:Class ; @@ -429845,12 +446512,12 @@ OMIM:605544 a owl:Class ; IAO:0000142 PMID:11386754 ; RO:0002525 CHR:9606chr5q13-q22 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1854181 ; oboInOwl:hasExactSynonym "GINGF2", "fibromatosis, gingival, 2", "fibromatosis, gingival, hereditary, 2", "ggf2" ; rdfs:subClassOf OMIMPS:135300 ; + skos:exactMatch UMLS:C1854181 ; biolink:category biolink:Disease . OMIM:605549 a owl:Class ; @@ -429859,44 +446526,45 @@ OMIM:605549 a owl:Class ; PMID:16897189, PMID:26063662 ; RO:0002525 CHR:9606chr1q12-q24 ; - oboInOwl:hasDbXref UMLS:C1854180 ; oboInOwl:hasExactSynonym "CORD8", "cone-rod dystrophy 8" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1854180 ; biolink:category biolink:Disease . OMIM:605569 a owl:Class ; rdfs:label "GPR83" ; IAO:0000142 PMID:10760605, PMID:11060465 ; - oboInOwl:hasDbXref UMLS:C1415254 ; oboInOwl:hasExactSynonym "GPR83", "g protein-coupled receptor 72", "g protein-coupled receptor 83", "gir, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10888 ; - skos:exactMatch HGNC_symbol:GPR83 ; + skos:exactMatch UMLS:C1415254, + HGNC:4523, + HGNC_symbol:GPR83 ; biolink:category biolink:Gene . OMIM:605572 a owl:Class ; rdfs:label "abdominal obesity-metabolic syndrome quantitative trait locus 2" ; IAO:0000142 PMID:11121050 ; RO:0002525 CHR:9606chr17p12 ; - oboInOwl:hasDbXref UMLS:C1854170 ; oboInOwl:hasExactSynonym "abdominal obesity-metabolic syndrome quantitative trait locus 2", "aoms2" ; rdfs:subClassOf OMIMPS:605552 ; + skos:exactMatch UMLS:C1854170 ; biolink:category biolink:Disease . OMIM:605582 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1k" ; IAO:0000142 PMID:11085912 ; RO:0002525 CHR:9606chr6q12-q16 ; - oboInOwl:hasDbXref UMLS:C1854159 ; oboInOwl:hasExactSynonym "CMD1K", "cardiomyopathy, dilated, 1k" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1854159 ; biolink:category biolink:Disease . OMIM:605583 a owl:Class ; @@ -429906,10 +446574,10 @@ OMIM:605583 a owl:Class ; PMID:12925340, PMID:18215623, PMID:18674745 ; - oboInOwl:hasDbXref UMLS:C1854158 ; oboInOwl:hasExactSynonym "DFNA25", "deafness, autosomal dominant 25" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1854158 ; biolink:category biolink:Disease . OMIM:605598 a owl:Class ; @@ -429917,11 +446585,11 @@ OMIM:605598 a owl:Class ; IAO:0000142 PMID:11175771, PMID:11175794 ; RO:0002525 CHR:9606chr5q31.1-q33.1 ; - oboInOwl:hasDbXref UMLS:C1854125 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 18", "T1D18", "diabetes mellitus, insulin-dependent, 18", "insulin-dependent diabetes mellitus 18" ; + skos:exactMatch UMLS:C1854125 ; biolink:category biolink:Disease . OMIM:605637 a owl:Class ; @@ -429934,13 +446602,13 @@ OMIM:605637 a owl:Class ; PMID:23489661, PMID:24193343, PMID:9708547 ; - oboInOwl:hasDbXref UMLS:C1854106, - ORPHA:363677, - ORPHA:79091 ; oboInOwl:hasExactSynonym "MYPOP", "inclusion body myopathy 3, autosomal dominant, formerly", "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles", "myopathy, proximal, with ophthalmoplegia" ; + skos:exactMatch UMLS:C1854106, + ORPHA:363677, + ORPHA:79091 ; biolink:category biolink:Disease . OMIM:605642 a owl:Class ; @@ -429948,10 +446616,10 @@ OMIM:605642 a owl:Class ; IAO:0000142 PMID:10211600, PMID:10843148 ; RO:0002525 CHR:9606chr1q21 ; - oboInOwl:hasDbXref UMLS:C1854104 ; oboInOwl:hasExactSynonym "prn1", "ptcprn", "thyroid carcinoma, papillary, with papillary renal neoplasia" ; + skos:exactMatch UMLS:C1854104 ; biolink:category biolink:Disease . OMIM:605670 a owl:Class ; @@ -429959,10 +446627,10 @@ OMIM:605670 a owl:Class ; IAO:0000142 PMID:11097607, PMID:12944416, PMID:8759344 ; - oboInOwl:hasDbXref UMLS:C1854065 ; oboInOwl:hasExactSynonym "LORD", "late-onset retinal degeneration", "retinal degeneration, late-onset, autosomal dominant" ; + skos:exactMatch UMLS:C1854065 ; biolink:category biolink:Disease . OMIM:605711 a owl:Class ; @@ -429971,11 +446639,11 @@ OMIM:605711 a owl:Class ; PMID:21944046, PMID:22077971, PMID:7606932 ; - oboInOwl:hasDbXref UMLS:C3276432 ; oboInOwl:hasExactSynonym "MMDS1", "mmds", "multiple mitochondrial dysfunctions syndrome 1" ; rdfs:subClassOf OMIMPS:605711 ; + skos:exactMatch UMLS:C3276432 ; biolink:category biolink:Disease . OMIM:605726 a owl:Class ; @@ -429984,34 +446652,34 @@ OMIM:605726 a owl:Class ; PMID:20167253, PMID:25678561, PMID:26078401 ; - oboInOwl:hasDbXref UMLS:C1854023 ; oboInOwl:hasExactSynonym "DSMA2", "neuronopathy, distal hereditary motor, jerash iia", "neuropathy, distal hereditary motor, jerash iia", "spinal muscular atrophy, distal, autosomal recessive, 2", "spinal muscular atrophy, jerash iia" ; + skos:exactMatch UMLS:C1854023 ; biolink:category biolink:Disease . OMIM:605727 a owl:Class ; rdfs:label "otosclerosis 2" ; IAO:0000142 PMID:11170898 ; RO:0002525 CHR:9606chr7q34-q36 ; - oboInOwl:hasDbXref UMLS:C1854022 ; oboInOwl:hasExactSynonym "OTSC2", "otosclerosis 2" ; rdfs:subClassOf OMIMPS:166800 ; + skos:exactMatch UMLS:C1854022 ; biolink:category biolink:Disease . OMIM:605728 a owl:Class ; rdfs:label "cataract 25" ; IAO:0000142 PMID:11133359 ; RO:0002525 CHR:9606chr15q21-q22 ; - oboInOwl:hasDbXref UMLS:C1854021 ; oboInOwl:hasExactSynonym "CTRCT25", "cataract 25", "cataract, central pouch-like, with sutural opacities", "cataract, central saccular, with sutural opacities" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1854021 ; biolink:category biolink:Disease . OMIM:605738 a owl:Class ; @@ -430019,11 +446687,11 @@ OMIM:605738 a owl:Class ; IAO:0000142 PMID:11035633, PMID:15083168 ; RO:0002525 CHR:9606chr15q12-q15 ; - oboInOwl:hasDbXref UMLS:C1854018 ; oboInOwl:hasExactSynonym "MCOPCB2", "microphthalmia, colobomatous, isolated 2", "microphthalmia, isolated, with coloboma 2" ; rdfs:subClassOf OMIMPS:300345 ; + skos:exactMatch UMLS:C1854018 ; biolink:category biolink:Disease . OMIM:605743 a owl:Class ; @@ -430035,34 +446703,35 @@ OMIM:605743 a owl:Class ; PMID:30912300 ; RO:0002525 CHR:9606chr1q32.2 ; RO:0003303 OMIM:600092 ; - oboInOwl:hasDbXref UMLS:C1539668, - UMLS:C1838654 ; oboInOwl:hasExactSynonym "HHAT", "hedgehog acyltransferase", "melanoma antigen recognized by t cells 2", "skinny hedgehog, drosophila, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:55733 ; - skos:exactMatch HGNC_symbol:HHAT ; + skos:exactMatch UMLS:C1539668, + UMLS:C1838654, + HGNC:18270, + HGNC_symbol:HHAT ; biolink:category biolink:Gene . OMIM:605746 a owl:Class ; rdfs:label "anisomastia" ; IAO:0000142 PMID:10999840 ; RO:0002525 CHR:9606chr16q13-q21 ; - oboInOwl:hasDbXref UMLS:C1854013 ; oboInOwl:hasExactSynonym "anisomastia" ; + skos:exactMatch UMLS:C1854013 ; biolink:category biolink:Disease . OMIM:605749 a owl:Class ; rdfs:label "cataract 26, multiple types" ; IAO:0000142 PMID:11179024 ; RO:0002525 CHR:9606chr9q13-q22 ; - oboInOwl:hasDbXref UMLS:C1854003 ; oboInOwl:hasExactSynonym "CTRCT26", "cataract 26, multiple types", "cataract, autosomal recessive, early-onset, pulverulent" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1854003 ; biolink:category biolink:Disease . OMIM:605750 a owl:Class ; @@ -430071,10 +446740,10 @@ OMIM:605750 a owl:Class ; PMID:11179025, PMID:20159112 ; RO:0002525 CHR:9606chr11p13-p12 ; - oboInOwl:hasDbXref UMLS:C1854002 ; oboInOwl:hasExactSynonym "EVR3", "exudative vitreoretinopathy 3" ; rdfs:subClassOf OMIMPS:133780 ; + skos:exactMatch UMLS:C1854002 ; biolink:category biolink:Disease . OMIM:605751 a owl:Class ; @@ -430089,11 +446758,11 @@ OMIM:605751 a owl:Class ; PMID:22623405, PMID:24928127, PMID:9579893 ; - oboInOwl:hasDbXref UMLS:C1853995 ; oboInOwl:hasExactSynonym "BFIS2", "convulsions, benign familial infantile, 2", "seizures, benign familial infantile, 2" ; rdfs:subClassOf OMIMPS:601764 ; + skos:exactMatch UMLS:C1853995 ; biolink:category biolink:Disease . OMIM:605779 a owl:Class ; @@ -430104,11 +446773,11 @@ OMIM:605779 a owl:Class ; PMID:7143386 ; RO:0002525 CHR:9606chr17p13 ; RO:0003303 OMIM:7 ; - oboInOwl:hasDbXref UMLS:C1853984 ; oboInOwl:hasExactSynonym "NDNC7", "nail disorder, nonsyndromic congenital, 7", "onychodysplasia, isolated congenital" ; rdfs:subClassOf OMIMPS:161050 ; + skos:exactMatch UMLS:C1853984 ; biolink:category biolink:Disease . OMIM:605803 a owl:Class ; @@ -430120,21 +446789,21 @@ OMIM:605803 a owl:Class ; PMID:16912508, PMID:17030239, PMID:17291859 ; - oboInOwl:hasDbXref UMLS:C1853965 ; oboInOwl:hasExactSynonym "ATOD2", "dermatitis, atopic, 2" ; rdfs:subClassOf OMIMPS:603165 ; + skos:exactMatch UMLS:C1853965 ; biolink:category biolink:Disease . OMIM:605804 a owl:Class ; rdfs:label "dermatitis, atopic, 3" ; IAO:0000142 PMID:11279517 ; RO:0002525 CHR:9606chr20p ; - oboInOwl:hasDbXref UMLS:C1853964 ; oboInOwl:hasExactSynonym "ATOD3", "dermatitis, atopic, 3", "dermatitis, atopic, with asthma" ; rdfs:subClassOf OMIMPS:603165 ; + skos:exactMatch UMLS:C1853964 ; biolink:category biolink:Disease . OMIM:605814 a owl:Class ; @@ -430152,21 +446821,21 @@ OMIM:605814 a owl:Class ; PMID:21424115, PMID:25135652, PMID:31255436 ; - oboInOwl:hasDbXref UMLS:C1853942, - ORPHA:247598 ; oboInOwl:hasExactSynonym "cholestasis, neonatal intrahepatic, caused by citrin deficiency", "citrullinemia, iia ii, neonatal-onset", "citrullinemia, iia ii, neonatal-onset, with or without failure to thrive and dyslipidemia" ; + skos:exactMatch UMLS:C1853942, + ORPHA:247598 ; biolink:category biolink:Disease . OMIM:605818 a owl:Class ; rdfs:label "deafness, autosomal recessive 27" ; IAO:0000142 PMID:11175289 ; RO:0002525 CHR:9606chr2q23-q31 ; - oboInOwl:hasDbXref UMLS:C1853941 ; oboInOwl:hasExactSynonym "DFNB27", "deafness, autosomal recessive 27" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1853941 ; biolink:category biolink:Disease . OMIM:605820 a owl:Class ; @@ -430201,7 +446870,6 @@ OMIM:605820 a owl:Class ; PMID:8789455, PMID:9124799, PMID:9888997 ; - oboInOwl:hasDbXref UMLS:C1853926 ; oboInOwl:hasExactSynonym "NM", "gne myopathy", "inclusion body myopathy 2, autosomal recessive, formerly", @@ -430210,6 +446878,8 @@ OMIM:605820 a owl:Class ; "myopathy, distal, with or without rimmed vacuoles", "nonaka distal myopathy", "nonaka myopathy" ; + rdfs:subClassOf OMIMPS:160500 ; + skos:exactMatch UMLS:C1853926 ; biolink:category biolink:Disease . OMIM:605833 a owl:Class ; @@ -430218,19 +446888,19 @@ OMIM:605833 a owl:Class ; PMID:14730478, PMID:19064610 ; RO:0002525 CHR:9606chr1q21-q23 ; - oboInOwl:hasDbXref UMLS:C1853912 ; oboInOwl:hasExactSynonym "BMND2", "bone mineral density quantitative trait locus 2" ; + skos:exactMatch UMLS:C1853912 ; biolink:category biolink:Disease . OMIM:605841 a owl:Class ; rdfs:label "narcolepsy 2, susceptibility to" ; IAO:0000142 PMID:10777671 ; RO:0002525 CHR:9606chr4p13-q21 ; - oboInOwl:hasDbXref UMLS:C1853901 ; oboInOwl:hasExactSynonym "NRCLP2", "narcolepsy 2, susceptibility to" ; rdfs:subClassOf OMIMPS:161400 ; + skos:exactMatch UMLS:C1853901 ; biolink:category biolink:Disease . OMIM:605844 a owl:Class ; @@ -430238,10 +446908,10 @@ OMIM:605844 a owl:Class ; IAO:0000142 PMID:11069631, PMID:12045207 ; RO:0002525 CHR:9606chr13q12-q14 ; - oboInOwl:hasDbXref UMLS:C1853900 ; oboInOwl:hasExactSynonym "ATOD5", "dermatitis, atopic, 5" ; rdfs:subClassOf OMIMPS:603165 ; + skos:exactMatch UMLS:C1853900 ; biolink:category biolink:Disease . OMIM:605845 a owl:Class ; @@ -430253,19 +446923,19 @@ OMIM:605845 a owl:Class ; PMID:7835897, PMID:9643293 ; RO:0002525 CHR:9606chr5q31-q33 ; - oboInOwl:hasDbXref UMLS:C1853899 ; oboInOwl:hasExactSynonym "ATOD6", "dermatitis, atopic, 6" ; rdfs:subClassOf OMIMPS:603165 ; + skos:exactMatch UMLS:C1853899 ; biolink:category biolink:Disease . OMIM:605850 a owl:Class ; rdfs:label "dimethylglycine dehydrogenase deficiency" ; IAO:0000142 PMID:10102904 ; - oboInOwl:hasDbXref UMLS:C1853892 ; oboInOwl:hasExactSynonym "DMGDHD", "dimethylglycine dehydrogenase deficiency", "dmgdh deficiency" ; + skos:exactMatch UMLS:C1853892 ; biolink:category biolink:Disease . OMIM:605875 a owl:Class ; @@ -430275,7 +446945,6 @@ OMIM:605875 a owl:Class ; PMID:12879075, PMID:14536061, PMID:15107862 ; - oboInOwl:hasDbXref UMLS:C1421480 ; oboInOwl:hasExactSynonym "WASF2", "scar, dictyostelium, homolog of, 2", "wasp family, member 2", @@ -430283,7 +446952,9 @@ OMIM:605875 a owl:Class ; "wasp protein family, member 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:10163 ; - skos:exactMatch HGNC_symbol:WASF2 ; + skos:exactMatch UMLS:C1421480, + HGNC:12733, + HGNC_symbol:WASF2 ; biolink:category biolink:Gene . OMIM:605909 a owl:Class ; @@ -430307,14 +446978,14 @@ OMIM:605909 a owl:Class ; PMID:18685134, PMID:18704525, PMID:20356854 ; - oboInOwl:hasDbXref UMLS:C1853833, - UMLS:C1970035 ; oboInOwl:hasExactSynonym "PARK6", "parkinson disease 6, autosomal recessive early-onset", "parkinson disease 6, early-onset", "parkinson disease 6, late-onset, susceptibility to", "parkinson disease, autosomal recessive early-onset, digenic, pink1/dj1" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1853833, + UMLS:C1970035 ; biolink:category biolink:Disease . OMIM:605911 a owl:Class ; @@ -430324,30 +446995,30 @@ OMIM:605911 a owl:Class ; PMID:16601895, PMID:9337379, PMID:9727719 ; - oboInOwl:hasDbXref UMLS:C2751532 ; oboInOwl:hasExactSynonym "3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency", "HMGCS2D", "hmgcs2 deficiency", "mitochondrial hmg-coa synthase deficiency" ; + skos:exactMatch UMLS:C2751532 ; biolink:category biolink:Disease . OMIM:605913 a owl:Class ; rdfs:label "bleeding disorder, east texas iia" ; IAO:0000142 PMID:11238089 ; RO:0002525 CHR:9606chr1q23 ; - oboInOwl:hasDbXref UMLS:C1853831 ; oboInOwl:hasExactSynonym "bdet", "bleeding disorder, east texas iia" ; + skos:exactMatch UMLS:C1853831 ; biolink:category biolink:Disease . OMIM:605934 a owl:Class ; rdfs:label "holoprosencephaly 6" ; IAO:0000142 PMID:11343300 ; RO:0002525 CHR:9606chr2q37.1-q37.3 ; - oboInOwl:hasDbXref UMLS:C1853830 ; oboInOwl:hasExactSynonym "HPE6", "holoprosencephaly 6" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C1853830 ; biolink:category biolink:Disease . OMIM:605967 a owl:Class ; @@ -430355,23 +447026,23 @@ OMIM:605967 a owl:Class ; IAO:0000142 PMID:11333865, PMID:22183091 ; RO:0002525 CHR:9606chr7q36 ; - oboInOwl:hasDbXref UMLS:C1853812, - ORPHA:85203 ; oboInOwl:hasExactSynonym "ACRPS", "acropectoral syndrome", "acrp syndrome", "dundar acropectoral syndrome", "syndactyly, preaxial polydactyly, and sternal deformity" ; + skos:exactMatch UMLS:C1853812, + ORPHA:85203 ; biolink:category biolink:Disease . OMIM:605990 a owl:Class ; rdfs:label "nephrolithiasis, uric acid, susceptibility to" ; IAO:0000142 PMID:11309680, PMID:12740763 ; - oboInOwl:hasDbXref UMLS:C2700426 ; oboInOwl:hasExactSynonym "nephrolithiasis, uric acid, susceptibility to", "uan", "urolithiasis, uric acid, susceptibility to" ; + skos:exactMatch UMLS:C2700426 ; biolink:category biolink:Disease . OMIM:606003 a owl:Class ; @@ -430384,12 +447055,12 @@ OMIM:606003 a owl:Class ; PMID:27130472, PMID:29923087, PMID:32828637 ; - oboInOwl:hasDbXref UMLS:C1291329, - ORPHA:101028 ; oboInOwl:hasExactSynonym "TALDOD", "eyaid syndrome", "taldo deficiency", "transaldolase deficiency" ; + skos:exactMatch UMLS:C1291329, + ORPHA:101028 ; biolink:category biolink:Disease . OMIM:606012 a owl:Class ; @@ -430397,10 +447068,10 @@ OMIM:606012 a owl:Class ; IAO:0000142 PMID:11313754, PMID:12519376 ; RO:0002525 CHR:9606chr3q22 ; - oboInOwl:hasDbXref UMLS:C1853760 ; oboInOwl:hasExactSynonym "DFNA18", "deafness, autosomal dominant 18" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1853760 ; biolink:category biolink:Disease . OMIM:606035 a owl:Class ; @@ -430408,18 +447079,18 @@ OMIM:606035 a owl:Class ; IAO:0000142 PMID:11283790, PMID:17179727 ; RO:0002525 CHR:9606chr6q22-q24 ; - oboInOwl:hasDbXref UMLS:C2676369 ; oboInOwl:hasExactSynonym "FIQTL1", "fasting insulin level quantitative trait locus 1" ; + skos:exactMatch UMLS:C2676369 ; biolink:category biolink:Disease . OMIM:606049 a owl:Class ; rdfs:label "acromegaloid features, overgrowth, cleft palate, and hernia" ; IAO:0000142 PMID:11403045 ; RO:0002525 CHR:9606chrChr.11 ; - oboInOwl:hasDbXref UMLS:C1853757 ; oboInOwl:hasExactSynonym "acromegaloid features, overgrowth, cleft palate, and hernia", "aoch" ; + skos:exactMatch UMLS:C1853757 ; biolink:category biolink:Disease . OMIM:606053 a owl:Class ; @@ -430434,25 +447105,25 @@ OMIM:606053 a owl:Class ; PMID:29288087, PMID:30250039, PMID:30268909 ; - oboInOwl:hasDbXref UMLS:C1853755 ; oboInOwl:hasExactSynonym "IDDAS", "autism, susceptibility to, 5, formerly", "autism-related speech delay", "intellectual developmental disorder with autism and speech delay", "phrase speech delay, autism-related" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1853755 ; biolink:category biolink:Disease . OMIM:606056 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iib" ; IAO:0000142 PMID:10788335, PMID:24716661 ; - oboInOwl:hasDbXref UMLS:C1853736 ; oboInOwl:hasExactSynonym "CDG2B", "cdg iib", "congenital disorder of glycosylation, iia iib", "glucosidase 1 deficiency" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C1853736 ; biolink:category biolink:Disease . OMIM:606068 a owl:Class ; @@ -430461,11 +447132,11 @@ OMIM:606068 a owl:Class ; PMID:20705278, PMID:20705279, PMID:31236346 ; - oboInOwl:hasDbXref UMLS:C1419614, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP28", "retinitis pigmentosa 28" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1419614, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:606069 a owl:Class ; @@ -430475,13 +447146,13 @@ OMIM:606069 a owl:Class ; PMID:11518736, PMID:15956209, PMID:16351644 ; - oboInOwl:hasDbXref UMLS:C1853733, - ORPHA:139491 ; oboInOwl:hasExactSynonym "HFE4", "hemochromatosis due to defect 1n ferroportin", "hemochromatosis, iia 4", "hemochromatosis, autosomal dominant" ; rdfs:subClassOf OMIMPS:235200 ; + skos:exactMatch UMLS:C1853733, + ORPHA:139491 ; biolink:category biolink:Disease . OMIM:606070 a owl:Class ; @@ -430491,13 +447162,13 @@ OMIM:606070 a owl:Class ; PMID:25154462, PMID:7847377, PMID:9837826 ; - oboInOwl:hasDbXref UMLS:C3807521 ; oboInOwl:hasExactSynonym "ALS21", "amyotrophic lateral sclerosis 21", "multisystem proteinopathy 5", "myopathy, distal, 2, formerly", "vocal cord and pharyngeal dysfunction with distal myopathy, formerly" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C3807521 ; biolink:category biolink:Disease . OMIM:606078 a owl:Class ; @@ -430513,8 +447184,6 @@ OMIM:606078 a owl:Class ; PMID:26224645 ; RO:0002525 CHR:9606chr22q13.1-q13.2 ; RO:0003303 OMIM:618847 ; - oboInOwl:hasDbXref UMLS:C1422572, - UMLS:C5394265 ; oboInOwl:hasExactSynonym "MRTFA", "mal", "megakaryoblastic leukemia 1 gene", @@ -430523,7 +447192,10 @@ OMIM:606078 a owl:Class ; "myocardin-related transcription factor a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57591 ; - skos:exactMatch HGNC_symbol:MRTFA ; + skos:exactMatch UMLS:C1422572, + UMLS:C5394265, + HGNC:14334, + HGNC_symbol:MRTFA ; biolink:category biolink:Gene . OMIM:606082 a owl:Class ; @@ -430531,10 +447203,10 @@ OMIM:606082 a owl:Class ; IAO:0000142 PMID:11396950 ; RO:0002525 CHR:9606chr3q26.1-q26.3 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C1853686 ; oboInOwl:hasExactSynonym "MNG3", "goiter, multinodular 3" ; rdfs:subClassOf OMIMPS:138800 ; + skos:exactMatch UMLS:C1853686 ; biolink:category biolink:Disease . OMIM:606129 a owl:Class ; @@ -430542,10 +447214,10 @@ OMIM:606129 a owl:Class ; IAO:0000142 PMID:11264183, PMID:23812780 ; RO:0002525 CHR:9606chr8p23.3-p22 ; - oboInOwl:hasDbXref UMLS:C1853666 ; oboInOwl:hasExactSynonym "DBA2", "diamond-blackfan anemia 2" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C1853666 ; biolink:category biolink:Disease . OMIM:606159 a owl:Class ; @@ -430560,12 +447232,12 @@ OMIM:606159 a owl:Class ; PMID:18854324, PMID:18981035, PMID:22278127 ; - oboInOwl:hasDbXref UMLS:C1853578 ; oboInOwl:hasExactSynonym "NBIA3", "basal ganglia disease, adult-onset", "neurodegeneration with brain iron accumulation 3", "neuroferritinopathy" ; rdfs:subClassOf OMIMPS:234200 ; + skos:exactMatch UMLS:C1853578 ; biolink:category biolink:Disease . OMIM:606164 a owl:Class ; @@ -430573,11 +447245,11 @@ OMIM:606164 a owl:Class ; IAO:0000142 PMID:11424144, PMID:24942156, PMID:8217543 ; - oboInOwl:hasDbXref UMLS:C4225411, - ORPHA:124 ; oboInOwl:hasExactSynonym "DBA15", "diamond-blackfan anemia 15 with mandibulofacial dysostosis" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C4225411, + ORPHA:124 ; biolink:category biolink:Disease . OMIM:606179 a owl:Class ; @@ -430586,8 +447258,8 @@ OMIM:606179 a owl:Class ; PMID:11408073, PMID:5458269 ; RO:0002525 CHR:9606chr16q22 ; - oboInOwl:hasDbXref UMLS:C0152244 ; - oboInOwl:hasExactSynonym "aneurysmal bone cysts" . + oboInOwl:hasExactSynonym "aneurysmal bone cysts" ; + skos:exactMatch UMLS:C0152244 . OMIM:606187 a owl:Class ; rdfs:label "alzheimer disease 7" ; @@ -430595,19 +447267,19 @@ OMIM:606187 a owl:Class ; PMID:11443525, PMID:9653640 ; RO:0002525 CHR:9606chr10p13 ; - oboInOwl:hasDbXref UMLS:C1853555 ; oboInOwl:hasExactSynonym "ad7", "alzheimer disease 7", "alzheimer disease, familial, 7" ; + skos:exactMatch UMLS:C1853555 ; biolink:category biolink:Disease . OMIM:606190 a owl:Class ; rdfs:label "meningioma, radiation-induced" ; IAO:0000142 PMID:11376799 ; RO:0002525 CHR:9606chr1p11 ; - oboInOwl:hasDbXref UMLS:C1853554 ; oboInOwl:hasExactSynonym "meningioma, radiation-induced", - "mnri" . + "mnri" ; + skos:exactMatch UMLS:C1853554 . OMIM:606215 a owl:Class ; rdfs:label "atrioventricular septal defect" ; @@ -430626,9 +447298,6 @@ OMIM:606215 a owl:Class ; PMID:8250042, PMID:9002679 ; RO:0002525 CHR:9606chr1p31-p21 ; - oboInOwl:hasDbXref UMLS:C0014116, - UMLS:C1389016, - UMLS:C1853513 ; oboInOwl:hasExactSynonym "AVSD", "atrioventricular canal defect", "atrioventricular septal defect", @@ -430636,6 +447305,9 @@ OMIM:606215 a owl:Class ; "avc defect", "endocardial cushion defect" ; rdfs:subClassOf OMIMPS:606215 ; + skos:exactMatch UMLS:C0014116, + UMLS:C1389016, + UMLS:C1853513 ; biolink:category biolink:Disease . OMIM:606217 a owl:Class ; @@ -430647,12 +447319,12 @@ OMIM:606217 a owl:Class ; PMID:23040494, PMID:7951234, PMID:8933338 ; - oboInOwl:hasDbXref UMLS:C1853508, - UMLS:C1853509 ; oboInOwl:hasExactSynonym "AVSD2", "atrioventricular septal defect, partial, with heterotaxy syndrome", "atrioventricular septal defect, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:606215 ; + skos:exactMatch UMLS:C1853508, + UMLS:C1853509 ; biolink:category biolink:Disease . OMIM:606220 a owl:Class ; @@ -430660,10 +447332,10 @@ OMIM:606220 a owl:Class ; IAO:0000142 PMID:11477608, PMID:17463252, PMID:30481285 ; - oboInOwl:hasDbXref UMLS:C1853507 ; oboInOwl:hasExactSynonym "IDDSFAS", "intellectual developmental disorder with short stature, facial anomalies, and speech defects", "mental retardation, short stature, facial anomalies, and joint dislocations" ; + skos:exactMatch UMLS:C1853507 ; biolink:category biolink:Disease . OMIM:606240 a owl:Class ; @@ -430673,11 +447345,11 @@ OMIM:606240 a owl:Class ; PMID:20001717, PMID:9024215 ; RO:0002525 CHR:9606chr2q21 ; - oboInOwl:hasDbXref UMLS:C4225410 ; oboInOwl:hasExactSynonym "NMTC3", "thyroid cancer, nonmedullary, 1, formerly", "thyroid cancer, nonmedullary, 3" ; rdfs:subClassOf OMIMPS:188550 ; + skos:exactMatch UMLS:C4225410 ; biolink:category biolink:Disease . OMIM:606242 a owl:Class ; @@ -430687,9 +447359,9 @@ OMIM:606242 a owl:Class ; PMID:21092079, PMID:3109242 ; RO:0002525 CHR:9606chr1p36.32-p35.3 ; - oboInOwl:hasDbXref UMLS:C1853480 ; oboInOwl:hasExactSynonym "kondoh syndrome", "mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism" ; + skos:exactMatch UMLS:C1853480 ; biolink:category biolink:Disease . OMIM:606243 a owl:Class ; @@ -430698,9 +447370,9 @@ OMIM:606243 a owl:Class ; PMID:10506710, PMID:11244503, PMID:2642727 ; - oboInOwl:hasDbXref UMLS:C0206657 ; oboInOwl:hasExactSynonym "ASPS", "alveolar soft part sarcoma" ; + skos:exactMatch UMLS:C0206657 ; biolink:category biolink:Disease . OMIM:606256 a owl:Class ; @@ -430709,9 +447381,9 @@ OMIM:606256 a owl:Class ; PMID:11410840, PMID:12673281 ; RO:0002525 CHR:9606chr7q31.3 ; - oboInOwl:hasDbXref UMLS:C1853476 ; oboInOwl:hasExactSynonym "STQTL2", "stature quantitative trait locus 2" ; + skos:exactMatch UMLS:C1853476 ; biolink:category biolink:Disease . OMIM:606257 a owl:Class ; @@ -430722,38 +447394,38 @@ OMIM:606257 a owl:Class ; PMID:15744036, PMID:19181680 ; RO:0002525 CHR:9606chr12p11.2-q14 ; - oboInOwl:hasDbXref UMLS:C1853475 ; oboInOwl:hasExactSynonym "STQTL3", "stature quantitative trait locus 3" ; + skos:exactMatch UMLS:C1853475 ; biolink:category biolink:Disease . OMIM:606258 a owl:Class ; rdfs:label "stature quantitative trait locus 4" ; IAO:0000142 PMID:11410839 ; RO:0002525 CHR:9606chr13q32-q33 ; - oboInOwl:hasDbXref UMLS:C1853474 ; oboInOwl:hasExactSynonym "STQTL4", "stature quantitative trait locus 4" ; + skos:exactMatch UMLS:C1853474 ; biolink:category biolink:Disease . OMIM:606263 a owl:Class ; rdfs:label "paget disease of bone 4" ; IAO:0000142 PMID:11473345 ; RO:0002525 CHR:9606chr5q31 ; - oboInOwl:hasDbXref UMLS:C1853473 ; oboInOwl:hasExactSynonym "PDB4", "paget disease of bone 4" ; rdfs:subClassOf OMIMPS:167250 ; + skos:exactMatch UMLS:C1853473 ; biolink:category biolink:Disease . OMIM:606282 a owl:Class ; rdfs:label "deafness, autosomal dominant 24" ; IAO:0000142 PMID:10739769 ; RO:0002525 CHR:9606chr4q35-qter ; - oboInOwl:hasDbXref UMLS:C1853451 ; oboInOwl:hasExactSynonym "DFNA24", "deafness, autosomal dominant 24" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1853451 ; biolink:category biolink:Disease . OMIM:606324 a owl:Class ; @@ -430767,10 +447439,10 @@ OMIM:606324 a owl:Class ; PMID:20089532, PMID:20837857, PMID:28882997 ; - oboInOwl:hasDbXref UMLS:C1853445 ; oboInOwl:hasExactSynonym "PARK7", "parkinson disease 7, autosomal recessive early-onset" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1853445 ; biolink:category biolink:Disease . OMIM:606325 a owl:Class ; @@ -430781,10 +447453,10 @@ OMIM:606325 a owl:Class ; PMID:9354777, PMID:9560952 ; RO:0002525 CHR:9606chr6q21 ; - oboInOwl:hasDbXref UMLS:C1853444 ; oboInOwl:hasExactSynonym "HTX3", "heterotaxy, visceral, 3, autosomal" ; rdfs:subClassOf OMIMPS:306955 ; + skos:exactMatch UMLS:C1853444 ; biolink:category biolink:Disease . OMIM:606348 a owl:Class ; @@ -430806,10 +447478,10 @@ OMIM:606348 a owl:Class ; PMID:17554300, PMID:18587394 ; RO:0002525 CHR:9606chr5q31 ; - oboInOwl:hasDbXref UMLS:C1853438 ; oboInOwl:hasExactSynonym "IBD5", "inflammatory bowel disease 5" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C1853438 ; biolink:category biolink:Disease . OMIM:606418 a owl:Class ; @@ -430825,7 +447497,6 @@ OMIM:606418 a owl:Class ; PMID:7584026 ; RO:0002525 CHR:9606chr1p32.3 ; RO:0003303 OMIM:602398 ; - oboInOwl:hasDbXref UMLS:C1414039 ; oboInOwl:hasExactSynonym "24-dehydrocholesterol reductase", "DHCR24", "desmosterol delta-24-reductase", @@ -430833,7 +447504,9 @@ OMIM:606418 a owl:Class ; "selective ad indicator 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1718 ; - skos:exactMatch HGNC_symbol:DHCR24 ; + skos:exactMatch UMLS:C1414039, + HGNC:2859, + HGNC_symbol:DHCR24 ; biolink:category biolink:Gene . OMIM:606438 a owl:Class ; @@ -430849,19 +447522,19 @@ OMIM:606438 a owl:Class ; PMID:18816802, PMID:20373340, PMID:2942452 ; - oboInOwl:hasDbXref UMLS:C1847987 ; oboInOwl:hasExactSynonym "HDL2", "huntington disease-like 2" ; + skos:exactMatch UMLS:C1847987 ; biolink:category biolink:Disease . OMIM:606451 a owl:Class ; rdfs:label "deafness, autosomal dominant 30" ; IAO:0000142 PMID:11571554 ; RO:0002525 CHR:9606chr15q25-q26 ; - oboInOwl:hasDbXref UMLS:C1847972 ; oboInOwl:hasExactSynonym "DFNA30", "deafness, autosomal dominant 30" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1847972 ; biolink:category biolink:Disease . OMIM:606460 a owl:Class ; @@ -430869,9 +447542,9 @@ OMIM:606460 a owl:Class ; IAO:0000142 PMID:18765803, PMID:19793722 ; RO:0002525 CHR:9606chr6q21 ; - oboInOwl:hasDbXref UMLS:C2751375 ; oboInOwl:hasExactSynonym "lgv2", "longevity 2" ; + skos:exactMatch UMLS:C2751375 ; biolink:category biolink:Disease . OMIM:606483 a owl:Class ; @@ -430880,7 +447553,6 @@ OMIM:606483 a owl:Class ; PMID:4020397, PMID:752065, PMID:9713856 ; - oboInOwl:hasDbXref UMLS:C1847896 ; oboInOwl:hasExactSynonym "CMT2GG", "charcot-marie-tooth disease, axonal, iia 2gg", "charcot-marie-tooth disease, dominant intermediate a, formerly", @@ -430888,6 +447560,7 @@ OMIM:606483 a owl:Class ; "charcot-marie-tooth neuropathy, dominant intermediate a, formerly", "di-cmta, formerly" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1847896 ; biolink:category biolink:Disease . OMIM:606519 a owl:Class ; @@ -430905,11 +447578,11 @@ OMIM:606519 a owl:Class ; PMID:740218, PMID:8328853, PMID:8607636 ; - oboInOwl:hasDbXref UMLS:C1847874, - ORPHA:42775 ; oboInOwl:hasExactSynonym "aortic aneurysm, giant congenital", "phace association", - "phaces association" . + "phaces association" ; + skos:exactMatch UMLS:C1847874, + ORPHA:42775 . OMIM:606545 a owl:Class ; rdfs:label "ichthyosis, congenital, autosomal recessive 3" ; @@ -430924,12 +447597,12 @@ OMIM:606545 a owl:Class ; PMID:19434086, PMID:19890349, PMID:20643494 ; - oboInOwl:hasDbXref UMLS:C3539888 ; oboInOwl:hasExactSynonym "ARCI3", "collodion baby, self-healing", "ichthyosis, congenital, autosomal recessive 3", "ichthyosis, lamellar, 5, formerly" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C3539888 ; biolink:category biolink:Disease . OMIM:606554 a owl:Class ; @@ -430937,11 +447610,11 @@ OMIM:606554 a owl:Class ; IAO:0000142 PMID:11673600, PMID:16009908 ; RO:0002525 CHR:9606chr1q42 ; - oboInOwl:hasDbXref UMLS:C1847839 ; oboInOwl:hasExactSynonym "EA3", "ataxia, episodic, with vertigo and tinnitus", "episodic ataxia, iia 3" ; rdfs:subClassOf OMIMPS:160120 ; + skos:exactMatch UMLS:C1847839 ; biolink:category biolink:Disease . OMIM:606579 a owl:Class ; @@ -430959,11 +447632,11 @@ OMIM:606579 a owl:Class ; PMID:6105440, PMID:7977362, PMID:8352624 ; - oboInOwl:hasDbXref UMLS:C1847835 ; oboInOwl:hasExactSynonym "VAMAS1", "systemic lupus erythematosus, vitiligo-related", "vitiligo", "vitiligo-associated multiple autoimmune disease susceptibility 1" ; + skos:exactMatch UMLS:C1847835 ; biolink:category biolink:Disease . OMIM:606581 a owl:Class ; @@ -430973,20 +447646,20 @@ OMIM:606581 a owl:Class ; PMID:15729709, PMID:16972078, PMID:23556448 ; - oboInOwl:hasDbXref UMLS:C1847831 ; oboInOwl:hasExactSynonym "PSAB", "drug addiction, susceptibility to", "polysubstance abuse, susceptibility to" ; + skos:exactMatch UMLS:C1847831 ; biolink:category biolink:Disease . OMIM:606613 a owl:Class ; rdfs:label "high density lipoprotein cholesterol level quantitative trait locus 1" ; IAO:0000142 PMID:11743583 ; RO:0002525 CHR:9606chr9p ; - oboInOwl:hasDbXref UMLS:C1847758 ; oboInOwl:hasExactSynonym "HDLCQ1", "hdlc1", "high density lipoprotein cholesterol level quantitative trait locus 1" ; + skos:exactMatch UMLS:C1847758 ; biolink:category biolink:Disease . OMIM:606616 a owl:Class ; @@ -430996,9 +447669,9 @@ OMIM:606616 a owl:Class ; PMID:17038000, PMID:3657975 ; RO:0002525 CHR:9606chr18p11.2 ; - oboInOwl:hasDbXref UMLS:C1847757 ; oboInOwl:hasExactSynonym "DYX6", "dyslexia, susceptibility to, 6" ; + skos:exactMatch UMLS:C1847757 ; biolink:category biolink:Disease . OMIM:606634 a owl:Class ; @@ -431008,7 +447681,6 @@ OMIM:606634 a owl:Class ; PMID:15944307, PMID:8602222, PMID:9736629 ; - oboInOwl:hasDbXref UMLS:C1422826 ; oboInOwl:hasExactSynonym "DCD", "cancer cachectic factor 1", "dermcidin", @@ -431017,7 +447689,9 @@ OMIM:606634 a owl:Class ; "survival-promoting peptide" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:117159 ; - skos:exactMatch HGNC_symbol:DCD ; + skos:exactMatch UMLS:C1422826, + HGNC:14669, + HGNC_symbol:DCD ; biolink:category biolink:Gene . OMIM:606640 a owl:Class ; @@ -431026,19 +447700,19 @@ OMIM:606640 a owl:Class ; PMID:32750315, PMID:7889564 ; RO:0002525 CHR:9606chr18q21 ; - oboInOwl:hasDbXref UMLS:C1847735 ; oboInOwl:hasExactSynonym "ALS3", "amyotrophic lateral sclerosis 3" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C1847735 ; biolink:category biolink:Disease . OMIM:606643 a owl:Class ; rdfs:label "body mass index quantitative trait locus 2" ; IAO:0000142 PMID:11713718 ; RO:0002525 CHR:9606chr13q14 ; - oboInOwl:hasDbXref UMLS:C1847733 ; oboInOwl:hasExactSynonym "BMIQ2", "body mass index quantitative trait locus 2" ; + skos:exactMatch UMLS:C1847733 ; biolink:category biolink:Disease . OMIM:606655 a owl:Class ; @@ -431053,8 +447727,6 @@ OMIM:606655 a owl:Class ; PMID:21651634, PMID:23965625, PMID:8904835 ; - oboInOwl:hasDbXref UMLS:C1424898, - UMLS:C4015968 ; oboInOwl:hasExactSynonym "RXFP2", "gpr106", "great", @@ -431063,7 +447735,10 @@ OMIM:606655 a owl:Class ; "relaxin/insulin-like family peptide receptor 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:122042 ; - skos:exactMatch HGNC_symbol:RXFP2 ; + skos:exactMatch UMLS:C1424898, + UMLS:C4015968, + HGNC:17318, + HGNC_symbol:RXFP2 ; biolink:category biolink:Gene . OMIM:606658 a owl:Class ; @@ -431080,20 +447755,20 @@ OMIM:606658 a owl:Class ; PMID:21555639, PMID:6133167, PMID:8421960 ; - oboInOwl:hasDbXref UMLS:C1847725 ; oboInOwl:hasExactSynonym "SCA15", "spinocerebellar ataxia 15", "spinocerebellar ataxia 16, formerly" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1847725 ; biolink:category biolink:Disease . OMIM:606660 a owl:Class ; rdfs:label "melanoma, uveal, susceptibility to, 1" ; IAO:0000142 PMID:11309305 ; RO:0002525 CHR:9606chr3q24-q26 ; - oboInOwl:hasDbXref UMLS:C1847724 ; oboInOwl:hasExactSynonym "melanoma, uveal, susceptibility to, 1", "uvm1" ; + skos:exactMatch UMLS:C1847724 ; biolink:category biolink:Disease . OMIM:606661 a owl:Class ; @@ -431101,19 +447776,19 @@ OMIM:606661 a owl:Class ; IAO:0000142 PMID:11309305, PMID:14679017 ; RO:0002525 CHR:9606chr3p25.2-p25.1 ; - oboInOwl:hasDbXref UMLS:C1847723 ; oboInOwl:hasExactSynonym "melanoma, uveal, susceptibility to, 2", "uvm2" ; + skos:exactMatch UMLS:C1847723 ; biolink:category biolink:Disease . OMIM:606662 a owl:Class ; rdfs:label "waardenburg syndrome, iia 2c" ; IAO:0000142 PMID:11810298 ; RO:0002525 CHR:9606chr8p23 ; - oboInOwl:hasDbXref UMLS:C1847722 ; oboInOwl:hasExactSynonym "WS2C", "waardenburg syndrome, iia 2c" ; rdfs:subClassOf OMIMPS:193500 ; + skos:exactMatch UMLS:C1847722 ; biolink:category biolink:Disease . OMIM:606664 a owl:Class ; @@ -431122,9 +447797,9 @@ OMIM:606664 a owl:Class ; PMID:11810299, PMID:14739680, PMID:17937387 ; - oboInOwl:hasDbXref UMLS:C1847720 ; oboInOwl:hasExactSynonym "glycine n-methyltransferase deficiency", "gnmt deficiency" ; + skos:exactMatch UMLS:C1847720 ; biolink:category biolink:Disease . OMIM:606668 a owl:Class ; @@ -431134,10 +447809,10 @@ OMIM:606668 a owl:Class ; PMID:14627676, PMID:19915574 ; RO:0002525 CHR:9606chr16p ; - oboInOwl:hasDbXref UMLS:C1847719 ; oboInOwl:hasExactSynonym "IBD8", "inflammatory bowel disease 8" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C1847719 ; biolink:category biolink:Disease . OMIM:606674 a owl:Class ; @@ -431145,10 +447820,10 @@ OMIM:606674 a owl:Class ; IAO:0000142 PMID:10777714, PMID:12928481 ; RO:0002525 CHR:9606chr19p13 ; - oboInOwl:hasDbXref UMLS:C1847692 ; oboInOwl:hasExactSynonym "IBD6", "inflammatory bowel disease 6" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C1847692 ; biolink:category biolink:Disease . OMIM:606675 a owl:Class ; @@ -431156,19 +447831,19 @@ OMIM:606675 a owl:Class ; IAO:0000142 PMID:10579120, PMID:10747815 ; RO:0002525 CHR:9606chr14q11-q12 ; - oboInOwl:hasDbXref UMLS:C1847691 ; oboInOwl:hasExactSynonym "IBD4", "inflammatory bowel disease 4" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C1847691 ; biolink:category biolink:Disease . OMIM:606689 a owl:Class ; rdfs:label "glaucoma 1, open angle, B" ; IAO:0000142 PMID:8812425 ; RO:0002525 CHR:9606chr2cen-q13 ; - oboInOwl:hasDbXref UMLS:C3887942 ; oboInOwl:hasExactSynonym "GLC1B", "glaucoma 1, open angle, B" ; + skos:exactMatch UMLS:C3887942 ; biolink:category biolink:Disease . OMIM:606708 a owl:Class ; @@ -431181,10 +447856,10 @@ OMIM:606708 a owl:Class ; PMID:16688749, PMID:7717414 ; RO:0002525 CHR:9606chr2q31 ; - oboInOwl:hasDbXref UMLS:C1847622 ; oboInOwl:hasExactSynonym "SHFM5", "split-hand/foot malformation 5" ; rdfs:subClassOf OMIMPS:183600 ; + skos:exactMatch UMLS:C1847622 ; biolink:category biolink:Disease . OMIM:606711 a owl:Class ; @@ -431195,10 +447870,10 @@ OMIM:606711 a owl:Class ; PMID:19646677 ; RO:0002525 CHR:9606chr16q ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C1847614 ; oboInOwl:hasExactSynonym "SLI1", "specific language impairment 1", "specific language impairment quantitative trait locus on chromosome 16" ; + skos:exactMatch UMLS:C1847614 ; biolink:category biolink:Disease . OMIM:606712 a owl:Class ; @@ -431207,11 +447882,11 @@ OMIM:606712 a owl:Class ; PMID:15133743 ; RO:0002525 CHR:9606chr19q ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1847605 ; oboInOwl:hasExactSynonym "SLI2", "specific language impairment 2", "specific language impairment quantitative trait locus on chromosome 19" ; rdfs:subClassOf OMIMPS:606711 ; + skos:exactMatch UMLS:C1847605 ; biolink:category biolink:Disease . OMIM:606713 a owl:Class ; @@ -431223,9 +447898,9 @@ OMIM:606713 a owl:Class ; PMID:24360809, PMID:27018472, PMID:27018475 ; - oboInOwl:hasDbXref UMLS:C1847604 ; oboInOwl:hasExactSynonym "VWS2", "van der woude syndrome 2" ; + skos:exactMatch UMLS:C1847604 ; biolink:category biolink:Disease . OMIM:606719 a owl:Class ; @@ -431237,9 +447912,9 @@ OMIM:606719 a owl:Class ; PMID:7666916, PMID:7666917, PMID:9242437 ; - oboInOwl:hasDbXref UMLS:C1838547 ; oboInOwl:hasExactSynonym "familial atypical multiple mole melanoma-pancreatic carcinoma syndrome", "melanoma-pancreatic cancer syndrome" ; + skos:exactMatch UMLS:C1838547 ; biolink:category biolink:Disease . OMIM:606744 a owl:Class ; @@ -431247,12 +447922,12 @@ OMIM:606744 a owl:Class ; IAO:0000142 PMID:11781686, PMID:21998596, PMID:24389050 ; - oboInOwl:hasDbXref UMLS:C1847572 ; oboInOwl:hasExactSynonym "SCKL2", "microcephalic primordial dwarfism 2", "seckel syndrome 2", "seckel-type dwarfism 2" ; rdfs:subClassOf OMIMPS:210600 ; + skos:exactMatch UMLS:C1847572 ; biolink:category biolink:Disease . OMIM:606762 a owl:Class ; @@ -431269,22 +447944,22 @@ OMIM:606762 a owl:Class ; PMID:9469993, PMID:9571255, PMID:9843361 ; - oboInOwl:hasDbXref UMLS:C1847555 ; oboInOwl:hasExactSynonym "HHF6", "hyperinsulinemic hypoglycemia, familial, 6", "hyperinsulinism-hyperammonemia syndrome" ; rdfs:subClassOf OMIMPS:256450 ; + skos:exactMatch UMLS:C1847555 ; biolink:category biolink:Disease . OMIM:606763 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 2" ; IAO:0000142 PMID:10745040, PMID:22387996 ; - oboInOwl:hasDbXref UMLS:C1847554 ; oboInOwl:hasExactSynonym "CILD2", "ciliary dyskinesia, primary, 2", "ciliary dyskinesia, primary, 2, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C1847554 ; biolink:category biolink:Disease . OMIM:606764 a owl:Class ; @@ -431309,9 +447984,9 @@ OMIM:606764 a owl:Class ; PMID:7971636, PMID:9438854, PMID:9697690 ; - oboInOwl:hasDbXref UMLS:C0238198 ; oboInOwl:hasExactSynonym "GIST", "gastrointestinal stromal tumor" ; + skos:exactMatch UMLS:C0238198 ; biolink:category biolink:Disease . OMIM:606766 a owl:Class ; @@ -431319,48 +447994,49 @@ OMIM:606766 a owl:Class ; IAO:0000142 PMID:11935327, PMID:22541561, PMID:23582645 ; - oboInOwl:hasDbXref UMLS:C4721889 ; oboInOwl:hasExactSynonym "SPGF3", "spermatogenic failure 3" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4721889 ; biolink:category biolink:Disease . OMIM:606768 a owl:Class ; rdfs:label "myopathy, distal, with anterior tibial onset" ; IAO:0000142 PMID:11198284, PMID:9731526 ; - oboInOwl:hasDbXref UMLS:C1847532 ; oboInOwl:hasExactSynonym "DMAT", "myopathy, distal, with anterior tibial onset" ; + rdfs:subClassOf OMIMPS:160500 ; + skos:exactMatch UMLS:C1847532 ; biolink:category biolink:Disease . OMIM:606770 a owl:Class ; rdfs:label "adiponectin, serum level of, quantitative trait locus 2" ; IAO:0000142 PMID:11549668 ; RO:0002525 CHR:9606chr5p15.2-p14 ; - oboInOwl:hasDbXref UMLS:C1847530 ; oboInOwl:hasExactSynonym "ADIPQTL2", "adiponectin, serum level of, quantitative trait locus 2", "circulating adiponectin quantitative trait locus on chromosome 5" ; + skos:exactMatch UMLS:C1847530 ; biolink:category biolink:Disease . OMIM:606771 a owl:Class ; rdfs:label "adiponectin, serum level of, quantitative trait locus 3" ; IAO:0000142 PMID:11549668 ; RO:0002525 CHR:9606chr14p11.2-q13 ; - oboInOwl:hasDbXref UMLS:C1847529 ; oboInOwl:hasExactSynonym "ADIPQTL3", "adiponectin, serum level of, quantitative trait locus 3", "circulating adiponectin quantitative trait locus on chromosome 14" ; + skos:exactMatch UMLS:C1847529 ; biolink:category biolink:Disease . OMIM:606787 a owl:Class ; rdfs:label "peripheral arterial occlusive disease 1" ; IAO:0000142 PMID:11833003 ; RO:0002525 CHR:9606chr1p31 ; - oboInOwl:hasDbXref UMLS:C1847493 ; oboInOwl:hasExactSynonym "paod1", "peripheral arterial occlusive disease 1" ; + skos:exactMatch UMLS:C1847493 ; biolink:category biolink:Disease . OMIM:606789 a owl:Class ; @@ -431370,9 +448046,9 @@ OMIM:606789 a owl:Class ; PMID:7508182, PMID:8528252 ; RO:0002525 CHR:9606chr8q ; - oboInOwl:hasDbXref UMLS:C1969842 ; oboInOwl:hasExactSynonym "HBFQTL4", "fetal hemoglobin quantitative trait locus 4" ; + skos:exactMatch UMLS:C1969842 ; biolink:category biolink:Disease . OMIM:606798 a owl:Class ; @@ -431381,8 +448057,8 @@ OMIM:606798 a owl:Class ; PMID:14581671, PMID:21775731, PMID:9163399 ; - oboInOwl:hasDbXref UMLS:C4692845 ; oboInOwl:hasExactSynonym "blepharospasm, benign essential, susceptibility to" ; + skos:exactMatch UMLS:C4692845 ; biolink:category biolink:Disease . OMIM:606824 a owl:Class ; @@ -431398,10 +448074,10 @@ OMIM:606824 a owl:Class ; PMID:8563765, PMID:8844006, PMID:8985845 ; - oboInOwl:hasDbXref UMLS:C0268186 ; oboInOwl:hasExactSynonym "GGM", "glucose/galactose malabsorption", "monosaccharide malabsorption" ; + skos:exactMatch UMLS:C0268186 ; biolink:category biolink:Disease . OMIM:606843 a owl:Class ; @@ -431414,11 +448090,11 @@ OMIM:606843 a owl:Class ; PMID:7527552, PMID:7534202, PMID:9842907 ; - oboInOwl:hasDbXref UMLS:C1720957 ; oboInOwl:hasExactSynonym "HIGM3", "hyper-igm syndrome 3", "immunodeficiency with hyper-igm, iia 3" ; rdfs:subClassOf OMIMPS:308230 ; + skos:exactMatch UMLS:C1720957 ; biolink:category biolink:Disease . OMIM:606852 a owl:Class ; @@ -431436,11 +448112,11 @@ OMIM:606852 a owl:Class ; PMID:18854859, PMID:24156912 ; RO:0002525 CHR:9606chr1p32 ; - oboInOwl:hasDbXref UMLS:C1847360 ; oboInOwl:hasExactSynonym "PARK10", "parkinson disease 10", "parkinson disease, age at onset of" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1847360 ; biolink:category biolink:Disease . OMIM:606854 a owl:Class ; @@ -431452,10 +448128,10 @@ OMIM:606854 a owl:Class ; PMID:16240336, PMID:2290486, PMID:9147882 ; - oboInOwl:hasDbXref UMLS:C1847352 ; oboInOwl:hasExactSynonym "BFPP", "cerebellar ataxia with neuronal migration defect", "polymicrogyria, bilateral frontoparietal" ; + skos:exactMatch UMLS:C1847352 ; biolink:category biolink:Disease . OMIM:606856 a owl:Class ; @@ -431468,9 +448144,9 @@ OMIM:606856 a owl:Class ; PMID:17194196, PMID:17415588, PMID:2296965 ; - oboInOwl:hasDbXref UMLS:C1847351 ; oboInOwl:hasExactSynonym "pancreatic cancer, susceptibility to, 1", "pnca1" ; + skos:exactMatch UMLS:C1847351 ; biolink:category biolink:Disease . OMIM:606874 a owl:Class ; @@ -431478,31 +448154,31 @@ OMIM:606874 a owl:Class ; IAO:0000142 PMID:17965226, PMID:18285831 ; RO:0002525 CHR:9606chr3p21 ; - oboInOwl:hasDbXref UMLS:C1969837 ; oboInOwl:hasExactSynonym "HSCR6", "hirschsprung disease, susceptibility to, 6" ; rdfs:subClassOf OMIMPS:142623 ; + skos:exactMatch UMLS:C1969837 ; biolink:category biolink:Disease . OMIM:606875 a owl:Class ; rdfs:label "hirschsprung disease, susceptibility to, 7" ; IAO:0000142 PMID:17965226 ; RO:0002525 CHR:9606chr19q12 ; - oboInOwl:hasDbXref UMLS:C1969836 ; oboInOwl:hasExactSynonym "HSCR7", "hirschsprung disease, susceptibility to, 7" ; rdfs:subClassOf OMIMPS:142623 ; + skos:exactMatch UMLS:C1969836 ; biolink:category biolink:Disease . OMIM:606893 a owl:Class ; rdfs:label "vascular malformation, primary intraosseous" ; IAO:0000142 PMID:11932989, PMID:27476657 ; - oboInOwl:hasDbXref UMLS:C1847197 ; oboInOwl:hasExactSynonym "VMPI", "hemangioma, intraosseous", "vascular malformation osseous", "vascular malformation, primary intraosseous" ; + skos:exactMatch UMLS:C1847197 ; biolink:category biolink:Disease . OMIM:606896 a owl:Class ; @@ -431511,9 +448187,9 @@ OMIM:606896 a owl:Class ; PMID:14740317, PMID:16254601 ; RO:0002525 CHR:9606chr3p12-q13 ; - oboInOwl:hasDbXref UMLS:C1847184 ; oboInOwl:hasExactSynonym "DYX5", "dyslexia, susceptibility to, 5" ; + skos:exactMatch UMLS:C1847184 ; biolink:category biolink:Disease . OMIM:606928 a owl:Class ; @@ -431530,10 +448206,10 @@ OMIM:606928 a owl:Class ; PMID:9482886, PMID:9781060 ; RO:0002525 CHR:9606chr1p36 ; - oboInOwl:hasDbXref UMLS:C1847161 ; oboInOwl:hasExactSynonym "BMND3", "bone mineral density quantitative trait locus 3", "bone mineral density, low, susceptibility to" ; + skos:exactMatch UMLS:C1847161 ; biolink:category biolink:Disease . OMIM:606943 a owl:Class ; @@ -431543,29 +448219,29 @@ OMIM:606943 a owl:Class ; PMID:12588794, PMID:1442008, PMID:21044053 ; - oboInOwl:hasDbXref UMLS:C1847089 ; oboInOwl:hasExactSynonym "USH1G", "usher syndrome, iia 1g" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C1847089 ; biolink:category biolink:Disease . OMIM:606960 a owl:Class ; rdfs:label "insulinoma tumor suppressor gene locus" ; IAO:0000142 PMID:11739439 ; RO:0002525 CHR:9606chr22q12.1-q12.2 ; - oboInOwl:hasDbXref UMLS:C1847015 ; oboInOwl:hasExactSynonym "insulinoma tumor suppressor gene locus" ; + skos:exactMatch UMLS:C1847015 ; biolink:category biolink:Disease . OMIM:606972 a owl:Class ; rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 2" ; IAO:0000142 PMID:10888596 ; RO:0002525 CHR:9606chr14q23 ; - oboInOwl:hasDbXref UMLS:C1846992 ; oboInOwl:hasExactSynonym "EIG2", "epilepsy, idiopathic generalized, susceptibility to, 2", "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14" ; rdfs:subClassOf OMIMPS:600669 ; + skos:exactMatch UMLS:C1846992 ; biolink:category biolink:Disease . OMIM:606995 a owl:Class ; @@ -431573,20 +448249,20 @@ OMIM:606995 a owl:Class ; IAO:0000142 PMID:11752023, PMID:12872122 ; RO:0002525 CHR:9606chr3q22 ; - oboInOwl:hasDbXref UMLS:C1846980 ; oboInOwl:hasExactSynonym "SLSN3", "senior-loken syndrome 3" ; rdfs:subClassOf OMIMPS:266900 ; + skos:exactMatch UMLS:C1846980 ; biolink:category biolink:Disease . OMIM:606996 a owl:Class ; rdfs:label "senior-loken syndrome 4" ; IAO:0000142 PMID:11920287, PMID:12205563 ; - oboInOwl:hasDbXref UMLS:C1846979 ; oboInOwl:hasExactSynonym "SLSN4", "senior-loken syndrome 4" ; rdfs:subClassOf OMIMPS:266900 ; + skos:exactMatch UMLS:C1846979 ; biolink:category biolink:Disease . OMIM:607004 a owl:Class ; @@ -431594,9 +448270,9 @@ OMIM:607004 a owl:Class ; IAO:0000142 PMID:10745048, PMID:11897820 ; RO:0002525 CHR:9606chr5p13.3-p13.2 ; - oboInOwl:hasDbXref UMLS:C1846949 ; oboInOwl:hasExactSynonym "BDA1B", "brachydactyly, iia a1, B" ; + skos:exactMatch UMLS:C1846949 ; biolink:category biolink:Disease . OMIM:607016 a owl:Class ; @@ -431620,12 +448296,12 @@ OMIM:607016 a owl:Class ; PMID:7550242, PMID:7741581, PMID:8664897 ; - oboInOwl:hasDbXref UMLS:C0026708 ; oboInOwl:hasExactSynonym "mps v, formerly", "mucopolysaccharidosis iia 1s", "mucopolysaccharidosis iia v, formerly", "scheie syndrome" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0026708 ; biolink:category biolink:Disease . OMIM:607017 a owl:Class ; @@ -431633,10 +448309,10 @@ OMIM:607017 a owl:Class ; IAO:0000142 PMID:10764236, PMID:10890148, PMID:16007628 ; - oboInOwl:hasDbXref UMLS:C1846922 ; oboInOwl:hasExactSynonym "DFNA21", "deafness, autosomal dominant 21" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1846922 ; biolink:category biolink:Disease . OMIM:607039 a owl:Class ; @@ -431644,19 +448320,19 @@ OMIM:607039 a owl:Class ; IAO:0000142 PMID:11972037, PMID:19888295, PMID:23173898 ; - oboInOwl:hasDbXref UMLS:C1846896 ; oboInOwl:hasExactSynonym "DFNB22", "deafness, autosomal recessive 22" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1846896 ; biolink:category biolink:Disease . OMIM:607053 a owl:Class ; rdfs:label "high density lipoprotein cholesterol level quantitative trait locus 2" ; IAO:0000142 PMID:11891617 ; RO:0002525 CHR:9606chr8q23 ; - oboInOwl:hasDbXref UMLS:C1846886 ; oboInOwl:hasExactSynonym "HDLCQ2", "high density lipoprotein cholesterol level quantitative trait locus 2" ; + skos:exactMatch UMLS:C1846886 ; biolink:category biolink:Disease . OMIM:607060 a owl:Class ; @@ -431704,10 +448380,10 @@ OMIM:607060 a owl:Class ; PMID:7898705, PMID:8446173, PMID:9276200 ; - oboInOwl:hasDbXref UMLS:C1846862 ; oboInOwl:hasExactSynonym "PARK8", "parkinson disease 8, autosomal dominant" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1846862 ; biolink:category biolink:Disease . OMIM:607085 a owl:Class ; @@ -431719,9 +448395,9 @@ OMIM:607085 a owl:Class ; PMID:4130248, PMID:8370765 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C1846838 ; oboInOwl:hasExactSynonym "myas1", "myasthenia gravis with thymus hyperplasia" ; + skos:exactMatch UMLS:C1846838 ; biolink:category biolink:Disease . OMIM:607086 a owl:Class ; @@ -431740,8 +448416,6 @@ OMIM:607086 a owl:Class ; PMID:7575269, PMID:913155 ; RO:0002525 CHR:9606chr11q23.3-q24 ; - oboInOwl:hasDbXref UMLS:C0345050, - UMLS:C0392775 ; oboInOwl:hasExactSynonym "AAT1", "aneurysm, thoracic aortic", "annuloaortic ectasia", @@ -431751,6 +448425,8 @@ OMIM:607086 a owl:Class ; "erdheim cystic medial necrosis of aorta", "faa1" ; rdfs:subClassOf OMIMPS:607086 ; + skos:exactMatch UMLS:C0345050, + UMLS:C0392775 ; biolink:category biolink:Disease . OMIM:607087 a owl:Class ; @@ -431758,11 +448434,11 @@ OMIM:607087 a owl:Class ; IAO:0000142 PMID:11369686, PMID:12878945 ; RO:0002525 CHR:9606chr5q13-q14 ; - oboInOwl:hasDbXref UMLS:C1846837 ; oboInOwl:hasExactSynonym "AAT2", "aortic aneurysm, familial thoracic 2", "faa2" ; rdfs:subClassOf OMIMPS:607086 ; + skos:exactMatch UMLS:C1846837 ; biolink:category biolink:Disease . OMIM:607088 a owl:Class ; @@ -431772,7 +448448,6 @@ OMIM:607088 a owl:Class ; PMID:16775372, PMID:512678 ; RO:0002525 CHR:9606chr11q13 ; - oboInOwl:hasDbXref UMLS:C1846823 ; oboInOwl:hasExactSynonym "DSMA3", "dhmn3", "dhmn4", @@ -431782,6 +448457,7 @@ OMIM:607088 a owl:Class ; "neuronopathy, distal hereditary motor, iia 4", "neuropathy, distal hereditary motor, iia 4", "spinal muscular atrophy, distal, autosomal recessive, 3" ; + skos:exactMatch UMLS:C1846823 ; biolink:category biolink:Disease . OMIM:607091 a owl:Class ; @@ -431790,20 +448466,20 @@ OMIM:607091 a owl:Class ; PMID:11930273, PMID:30653653, PMID:32157688 ; - oboInOwl:hasDbXref UMLS:C2931009 ; oboInOwl:hasExactSynonym "CDG2D", "cdg iid", "congenital disorder of glycosylation, iia iid" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C2931009 ; biolink:category biolink:Disease . OMIM:607101 a owl:Class ; rdfs:label "deafness, autosomal recessive 30" ; IAO:0000142 PMID:12032315 ; - oboInOwl:hasDbXref UMLS:C1846784 ; oboInOwl:hasExactSynonym "DFNB30", "deafness, autosomal recessive 30" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1846784 ; biolink:category biolink:Disease . OMIM:607107 a owl:Class ; @@ -431820,13 +448496,13 @@ OMIM:607107 a owl:Class ; PMID:7191767, PMID:7729941 ; RO:0002525 CHR:9606chr4p15.1-q12 ; - oboInOwl:hasDbXref UMLS:C1846758, - UMLS:C2931822 ; oboInOwl:hasExactSynonym "nasopharyngeal cancer", "nasopharyngeal carcinoma", "nasopharyngeal carcinoma, susceptibility to, 1", "npc", "npca" ; + skos:exactMatch UMLS:C1846758, + UMLS:C2931822 ; biolink:category biolink:Disease . OMIM:607116 a owl:Class ; @@ -431840,10 +448516,10 @@ OMIM:607116 a owl:Class ; PMID:16188386, PMID:9008509 ; RO:0002525 CHR:9606chr20p ; - oboInOwl:hasDbXref UMLS:C1846735 ; oboInOwl:hasExactSynonym "ad8", "alzheimer disease 8", "alzheimer disease, familial, 8" ; + skos:exactMatch UMLS:C1846735 ; biolink:category biolink:Disease . OMIM:607134 a owl:Class ; @@ -431852,34 +448528,35 @@ OMIM:607134 a owl:Class ; PMID:15133308 ; RO:0002525 CHR:9606chr13q21 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C1846719 ; oboInOwl:hasExactSynonym "SLI3", "specific language impairment 3", "specific language impairment quantitative trait locus on chromosome 13" ; rdfs:subClassOf OMIMPS:606711 ; + skos:exactMatch UMLS:C1846719 ; biolink:category biolink:Disease . OMIM:607135 a owl:Class ; rdfs:label "creatinine clearance quantitative trait locus" ; IAO:0000142 PMID:11115379 ; RO:0002525 CHR:9606chr3p ; - oboInOwl:hasDbXref UMLS:C1846718 ; oboInOwl:hasExactSynonym "crcl", "creatinine clearance quantitative trait locus" ; + skos:exactMatch UMLS:C1846718 ; biolink:category biolink:Disease . OMIM:607138 a owl:Class ; rdfs:label "CREB3L4" ; IAO:0000142 PMID:11830526, PMID:12111373 ; - oboInOwl:hasDbXref UMLS:C1425825 ; oboInOwl:hasExactSynonym "CREB3L4", "androgen-induced basic leucine zipper protein", "camp response element-binding protein 3-like 4", "camp response element-binding protein 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:148327 ; - skos:exactMatch HGNC_symbol:CREB3L4 ; + skos:exactMatch UMLS:C1425825, + HGNC:18854, + HGNC_symbol:CREB3L4 ; biolink:category biolink:Gene . OMIM:607143 a owl:Class ; @@ -431891,12 +448568,12 @@ OMIM:607143 a owl:Class ; PMID:17506107, PMID:25019053, PMID:31481313 ; - oboInOwl:hasDbXref UMLS:C2931001, - ORPHA:79324 ; oboInOwl:hasExactSynonym "CDG1G", "cdg ig", "congenital disorder of glycosylation, iia ig" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C2931001, + ORPHA:79324 ; biolink:category biolink:Disease . OMIM:607151 a owl:Class ; @@ -431909,21 +448586,21 @@ OMIM:607151 a owl:Class ; PMID:21799892, PMID:22377813, PMID:22931863 ; - oboInOwl:hasDbXref UMLS:C1846689, - ORPHA:2573 ; oboInOwl:hasExactSynonym "MYMY2", "moyamoya disease 2" ; rdfs:subClassOf OMIMPS:252350 ; + skos:exactMatch UMLS:C1846689, + ORPHA:2573 ; biolink:category biolink:Disease . OMIM:607152 a owl:Class ; rdfs:label "spastic paraplegia 19, autosomal dominant" ; IAO:0000142 PMID:12112072 ; RO:0002525 CHR:9606chr9q ; - oboInOwl:hasDbXref UMLS:C1846685 ; oboInOwl:hasExactSynonym "SPG19", "spastic paraplegia 19, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1846685 ; biolink:category biolink:Disease . OMIM:607155 a owl:Class ; @@ -431945,8 +448622,6 @@ OMIM:607155 a owl:Class ; PMID:17200494, PMID:21220724, PMID:9577386 ; - oboInOwl:hasDbXref UMLS:C1846672, - ORPHA:34515 ; oboInOwl:hasExactSynonym "MDDGC5", "muscular dystrophy, limb-girdle, iia 2i", "muscular dystrophy, limb-girdle, autosomal recessive 9", @@ -431954,6 +448629,8 @@ OMIM:607155 a owl:Class ; "muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related" ; rdfs:subClassOf OMIMPS:253600, OMIMPS:609308 ; + skos:exactMatch UMLS:C1846672, + ORPHA:34515 ; biolink:category biolink:Disease . OMIM:607200 a owl:Class ; @@ -431961,11 +448638,11 @@ OMIM:607200 a owl:Class ; IAO:0000142 PMID:12110737, PMID:15863666, PMID:16134168 ; - oboInOwl:hasDbXref UMLS:C1846632 ; oboInOwl:hasExactSynonym "TDH6", "hypothyroidism, congenital, due to dyshormonogenesis, 6", "thyroid dyshormonogenesis 6", "thyroid hormonogenesis, genetic defect in, 6" ; + skos:exactMatch UMLS:C1846632 ; biolink:category biolink:Disease . OMIM:607202 a owl:Class ; @@ -431973,22 +448650,22 @@ OMIM:607202 a owl:Class ; IAO:0000142 PMID:11796853, PMID:12136234 ; RO:0002525 CHR:9606chr15q11-q13 ; - oboInOwl:hasDbXref UMLS:C1846631 ; oboInOwl:hasExactSynonym "CELIAC5", "celiac disease, susceptibility to, 5", "gluten-sensitive enteropathy, susceptibility to, 5", "gses" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C1846631 ; biolink:category biolink:Disease . OMIM:607221 a owl:Class ; rdfs:label "epilepsy, partial, with pericentral spikes" ; IAO:0000142 PMID:12112080 ; RO:0002525 CHR:9606chr4p15 ; - oboInOwl:hasDbXref UMLS:C1846609 ; oboInOwl:hasExactSynonym "PEPS", "epilepsy, partial, with pericentral spikes", "epps" ; + skos:exactMatch UMLS:C1846609 ; biolink:category biolink:Disease . OMIM:607225 a owl:Class ; @@ -432001,10 +448678,10 @@ OMIM:607225 a owl:Class ; PMID:18523452, PMID:18810511, PMID:24315819 ; - oboInOwl:hasDbXref UMLS:C2931441, - ORPHA:293168 ; oboInOwl:hasExactSynonym "IAHSP", "spastic paralysis, infantile-onset ascending" ; + skos:exactMatch UMLS:C2931441, + ORPHA:293168 ; biolink:category biolink:Disease . OMIM:607239 a owl:Class ; @@ -432012,29 +448689,29 @@ OMIM:607239 a owl:Class ; IAO:0000142 PMID:12080392, PMID:18781188 ; RO:0002525 CHR:9606chr10p11.23-q21.1 ; - oboInOwl:hasDbXref UMLS:C1846576 ; oboInOwl:hasExactSynonym "DFNB33", "deafness, autosomal recessive 33" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1846576 ; biolink:category biolink:Disease . OMIM:607248 a owl:Class ; rdfs:label "glioma susceptibility 4" ; RO:0002525 CHR:9606chr15q23-q26.3 ; - oboInOwl:hasDbXref UMLS:C2750944 ; oboInOwl:hasExactSynonym "GLM4", "glioma susceptibility 4" ; rdfs:subClassOf OMIMPS:137800 ; + skos:exactMatch UMLS:C2750944 ; biolink:category biolink:Disease . OMIM:607250 a owl:Class ; rdfs:label "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" ; IAO:0000142 PMID:12244316, PMID:15744309 ; - oboInOwl:hasDbXref UMLS:C4759870 ; oboInOwl:hasExactSynonym "SCAN1", "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" ; rdfs:subClassOf OMIMPS:607250 ; + skos:exactMatch UMLS:C4759870 ; biolink:category biolink:Disease . OMIM:607258 a owl:Class ; @@ -432043,9 +448720,9 @@ OMIM:607258 a owl:Class ; PMID:433854, PMID:9637423 ; RO:0002525 CHR:9606chr4q33-qter ; - oboInOwl:hasDbXref UMLS:C1846573 ; oboInOwl:hasExactSynonym "hca1", "hypercalciuria, absorptive, 1" ; + skos:exactMatch UMLS:C1846573 ; biolink:category biolink:Disease . OMIM:607259 a owl:Class ; @@ -432057,10 +448734,10 @@ OMIM:607259 a owl:Class ; PMID:22571692, PMID:9634528, PMID:9635427 ; - oboInOwl:hasDbXref UMLS:C1846564 ; oboInOwl:hasExactSynonym "SPG7", "spastic paraplegia 7, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1846564 ; biolink:category biolink:Disease . OMIM:607277 a owl:Class ; @@ -432072,44 +448749,45 @@ OMIM:607277 a owl:Class ; PMID:12119603, PMID:15496624, PMID:16391567 ; - oboInOwl:hasDbXref UMLS:C1846534 ; oboInOwl:hasExactSynonym "as1", "asrt1", "asthma-related traits, susceptibility to, 1" ; + skos:exactMatch UMLS:C1846534 ; biolink:category biolink:Disease . OMIM:607279 a owl:Class ; rdfs:label "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" ; IAO:0000142 PMID:12192084 ; RO:0002525 CHR:9606chr11q14 ; - oboInOwl:hasDbXref UMLS:C1846533 ; oboInOwl:hasExactSynonym "SLEH1", "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1", "systemic lupus erythematosus, hemolytic anemia-related" ; + skos:exactMatch UMLS:C1846533 ; biolink:category biolink:Disease . OMIM:607304 a owl:Class ; rdfs:label "cataract 27" ; IAO:0000142 PMID:12091400 ; RO:0002525 CHR:9606chr2p12 ; - oboInOwl:hasDbXref UMLS:C1846520 ; oboInOwl:hasExactSynonym "CTRCT27", "cataract 27", "cataract 27, nuclear progressive", "ccnp" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1846520 ; biolink:category biolink:Disease . OMIM:607315 a owl:Class ; rdfs:label "CABP5" ; IAO:0000142 PMID:10625670 ; - oboInOwl:hasDbXref UMLS:C1422158 ; oboInOwl:hasExactSynonym "CABP5", "calcium-binding protein 3", "calcium-binding protein 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:56344 ; - skos:exactMatch HGNC_symbol:CABP5 ; + skos:exactMatch UMLS:C1422158, + HGNC:13714, + HGNC_symbol:CABP5 ; biolink:category biolink:Gene . OMIM:607317 a owl:Class ; @@ -432118,24 +448796,24 @@ OMIM:607317 a owl:Class ; PMID:14681893, PMID:29518281, PMID:29604224 ; - oboInOwl:hasDbXref UMLS:C1846492, - ORPHA:95434 ; oboInOwl:hasExactSynonym "SCAR4", "spinocerebellar ataxia 24, formerly", "spinocerebellar ataxia with saccadic intrusions", "spinocerebellar ataxia, autosomal recessive 4" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C1846492, + ORPHA:95434 ; biolink:category biolink:Disease . OMIM:607324 a owl:Class ; rdfs:label "polydactyly, postaxial, iia a3" ; IAO:0000142 PMID:11973619 ; RO:0002525 CHR:9606chr19p13.2-p13.1 ; - oboInOwl:hasDbXref UMLS:C1846452 ; oboInOwl:hasExactSynonym "PAPA3", "polydactyly, postaxial, iia a3", "postaxial polydactyly, iia a3" ; rdfs:subClassOf OMIMPS:174200 ; + skos:exactMatch UMLS:C1846452 ; biolink:category biolink:Disease . OMIM:607326 a owl:Class ; @@ -432146,11 +448824,11 @@ OMIM:607326 a owl:Class ; PMID:19005420, PMID:9295067, PMID:964990 ; - oboInOwl:hasDbXref UMLS:C3888088 ; oboInOwl:hasExactSynonym "SMC1", "smc", "smith-mccort dysplasia 1" ; rdfs:subClassOf OMIMPS:607326 ; + skos:exactMatch UMLS:C3888088 ; biolink:category biolink:Disease . OMIM:607329 a owl:Class ; @@ -432159,9 +448837,9 @@ OMIM:607329 a owl:Class ; PMID:12228842 ; RO:0002525 CHR:9606chr2p25-p24 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1846430 ; oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 3", "hyt3" ; + skos:exactMatch UMLS:C1846430 ; biolink:category biolink:Disease . OMIM:607330 a owl:Class ; @@ -432173,12 +448851,12 @@ OMIM:607330 a owl:Class ; PMID:2309789, PMID:24142275, PMID:30097991 ; - oboInOwl:hasDbXref UMLS:C1846421, - ORPHA:46059 ; oboInOwl:hasExactSynonym "LATHOS", "lathosterolosis", "sc5d deficiency", "sterol c5-desaturase deficiency" ; + skos:exactMatch UMLS:C1846421, + ORPHA:46059 ; biolink:category biolink:Disease . OMIM:607339 a owl:Class ; @@ -432189,9 +448867,9 @@ OMIM:607339 a owl:Class ; PMID:20886236, PMID:20933357 ; RO:0002525 CHR:9606chr16pter-p13 ; - oboInOwl:hasDbXref UMLS:C1846418 ; oboInOwl:hasExactSynonym "chds1", "coronary heart disease, susceptibility to, 1" ; + skos:exactMatch UMLS:C1846418 ; biolink:category biolink:Disease . OMIM:607346 a owl:Class ; @@ -432202,21 +448880,21 @@ OMIM:607346 a owl:Class ; PMID:14679032, PMID:23280837, PMID:23280838 ; - oboInOwl:hasDbXref UMLS:C1846367, - UMLS:C2746067 ; oboInOwl:hasExactSynonym "SCA19", "spinocerebellar ataxia 19", "spinocerebellar ataxia 22" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1846367, + UMLS:C2746067 ; biolink:category biolink:Disease . OMIM:607354 a owl:Class ; rdfs:label "scoliosis, isolated, susceptibility to, 2" ; IAO:0000142 PMID:12384783 ; RO:0002525 CHR:9606chr17p11.2 ; - oboInOwl:hasDbXref UMLS:C1846366 ; oboInOwl:hasExactSynonym "IS2", "scoliosis, isolated, susceptibility to, 2" ; + skos:exactMatch UMLS:C1846366 ; biolink:category biolink:Disease . OMIM:607373 a owl:Class ; @@ -432227,21 +448905,21 @@ OMIM:607373 a owl:Class ; PMID:18698615, PMID:8655659 ; RO:0002525 CHR:9606chr3q25-q27 ; - oboInOwl:hasDbXref UMLS:C1969710 ; oboInOwl:hasExactSynonym "AUTS8", "autism, susceptibility to, 8", "auts2, formerly" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1969710 ; biolink:category biolink:Disease . OMIM:607398 a owl:Class ; rdfs:label "glucocorticoid deficiency 2" ; IAO:0000142 PMID:15654338 ; - oboInOwl:hasDbXref UMLS:C4049714 ; oboInOwl:hasExactSynonym "GCCD2", "familial glucocorticoid deficiency 2", "glucocorticoid deficiency 2" ; rdfs:subClassOf OMIMPS:202200 ; + skos:exactMatch UMLS:C4049714 ; biolink:category biolink:Disease . OMIM:607411 a owl:Class ; @@ -432254,11 +448932,11 @@ OMIM:607411 a owl:Class ; PMID:5102136, PMID:9363893 ; RO:0002525 CHR:9606chr12q24 ; - oboInOwl:hasDbXref UMLS:C4282128 ; oboInOwl:hasExactSynonym "PDA1", "patent ductus arteriosus 1", "pda" ; rdfs:subClassOf OMIMPS:607411 ; + skos:exactMatch UMLS:C4282128 ; biolink:category biolink:Disease . OMIM:607417 a owl:Class ; @@ -432267,12 +448945,12 @@ OMIM:607417 a owl:Class ; PMID:15151510, PMID:15557513, PMID:28143899 ; - oboInOwl:hasDbXref UMLS:C1843942 ; oboInOwl:hasExactSynonym "MRT2", "intellectual developmental disorder, autosomal recessive 2", "mental retardation, autosomal recessive 2", "mental retardation, autosomal recessive 2a" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1843942 ; biolink:category biolink:Disease . OMIM:607432 a owl:Class ; @@ -432298,10 +448976,6 @@ OMIM:607432 a owl:Class ; PMID:9697693, PMID:9817918, PMID:9989616 ; - oboInOwl:hasDbXref UMLS:C0431375, - UMLS:C1848201, - ORPHA:95232, - ORPHA:99796 ; oboInOwl:hasExactSynonym "LIS1", "lissencephaly 1", "lissencephaly sequence, isolated", @@ -432309,6 +448983,10 @@ OMIM:607432 a owl:Class ; "subcortical band heterotopia", "subcortical laminar heterotopia" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C0431375, + UMLS:C1848201, + ORPHA:95232, + ORPHA:99796 ; biolink:category biolink:Disease . OMIM:607446 a owl:Class ; @@ -432317,29 +448995,29 @@ OMIM:607446 a owl:Class ; PMID:12355400, PMID:9758619 ; RO:0002525 CHR:9606chr6q23-q25 ; - oboInOwl:hasDbXref UMLS:C1843899 ; oboInOwl:hasExactSynonym "BMIQ3", "body mass index quantitative trait locus 3" ; + skos:exactMatch UMLS:C1843899 ; biolink:category biolink:Disease . OMIM:607447 a owl:Class ; rdfs:label "body mass index quantitative trait locus 4" ; IAO:0000142 PMID:11381268, PMID:9700198 ; - oboInOwl:hasDbXref UMLS:C1843898 ; oboInOwl:hasExactSynonym "BMIQ4", "body mass index quantitative trait locus 4", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C1843898 ; biolink:category biolink:Disease . OMIM:607453 a owl:Class ; rdfs:label "deafness, autosomal dominant 44" ; IAO:0000142 PMID:12483295, PMID:17503326 ; - oboInOwl:hasDbXref UMLS:C1843895 ; oboInOwl:hasExactSynonym "DFNA44", "deafness, autosomal dominant 44" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1843895 ; biolink:category biolink:Disease . OMIM:607454 a owl:Class ; @@ -432348,18 +449026,18 @@ OMIM:607454 a owl:Class ; PMID:12402269, PMID:18418688, PMID:25070513 ; - oboInOwl:hasDbXref UMLS:C1843891 ; oboInOwl:hasExactSynonym "SCA21", "spinocerebellar ataxia 21" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1843891 ; biolink:category biolink:Disease . OMIM:607457 a owl:Class ; rdfs:label "gil blood group" ; IAO:0000142 PMID:12239222, PMID:15377196 ; - oboInOwl:hasDbXref UMLS:C1843889 ; oboInOwl:hasExactSynonym "gil blood group" ; + skos:exactMatch UMLS:C1843889 ; biolink:category biolink:Disease . OMIM:607458 a owl:Class ; @@ -432367,11 +449045,11 @@ OMIM:607458 a owl:Class ; IAO:0000142 PMID:11992570, PMID:19409521 ; RO:0002525 CHR:9606chr7q22-q32 ; - oboInOwl:hasDbXref UMLS:C1843884 ; oboInOwl:hasExactSynonym "SCA18", "sensorimotor neuropathy with ataxia, autosomal dominant", "spinocerebellar ataxia 18" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1843884 ; biolink:category biolink:Disease . OMIM:607459 a owl:Class ; @@ -432389,16 +449067,16 @@ OMIM:607459 a owl:Class ; PMID:26942292, PMID:632821, PMID:9222196 ; - oboInOwl:hasDbXref UMLS:C1843851, - UMLS:C1843852, - UMLS:C4225409, - UMLS:C4225440 ; oboInOwl:hasExactSynonym "SANDO", "epilepsy, progressive myoclonic, 5, formerly", "epilepsy, progressive myoclonic, with sensory ataxic neuropathy", "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive", "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "spinocerebellar ataxia with epilepsy" ; + skos:exactMatch UMLS:C1843851, + UMLS:C1843852, + UMLS:C4225409, + UMLS:C4225440 ; biolink:category biolink:Disease . OMIM:607464 a owl:Class ; @@ -432408,9 +449086,9 @@ OMIM:607464 a owl:Class ; PMID:12727991, PMID:15841082, PMID:9854570 ; - oboInOwl:hasDbXref UMLS:C0749424 ; oboInOwl:hasExactSynonym "hurthle cell thyroid neoplasia", "thyroid carcinoma, hurthle cell" ; + skos:exactMatch UMLS:C0749424 ; biolink:category biolink:Disease . OMIM:607483 a owl:Class ; @@ -432428,13 +449106,13 @@ OMIM:607483 a owl:Class ; PMID:25117056, PMID:29236641, PMID:9679779 ; - oboInOwl:hasDbXref UMLS:C1843807 ; oboInOwl:hasExactSynonym "THMD2", "basal ganglia disease, biotin-responsive", "btbgd", "encephalopathy, thiamine-responsive", "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" ; rdfs:subClassOf OMIMPS:249270 ; + skos:exactMatch UMLS:C1843807 ; biolink:category biolink:Disease . OMIM:607485 a owl:Class ; @@ -432488,8 +449166,6 @@ OMIM:607485 a owl:Class ; PMID:9152110, PMID:9259373, PMID:9633693 ; - oboInOwl:hasDbXref UMLS:C0282513, - UMLS:C1843792 ; oboInOwl:hasExactSynonym "aphasia, primary progressive", "dementia, hereditary dysphasic disinhibition", "frontotemporal dementia with tdp43 inclusions, grn-related", @@ -432497,6 +449173,8 @@ OMIM:607485 a owl:Class ; "frontotemporal lobar degeneration with tdp43 inclusions, grn-related", "frontotemporal lobar degeneration with ubiquitin-positive inclusions", "ftld-tdp, grn-related" ; + skos:exactMatch UMLS:C0282513, + UMLS:C1843792 ; biolink:category biolink:Disease . OMIM:607488 a owl:Class ; @@ -432504,31 +449182,31 @@ OMIM:607488 a owl:Class ; IAO:0000142 PMID:11215567, PMID:12391345 ; RO:0002525 CHR:9606chr18p11 ; - oboInOwl:hasDbXref UMLS:C1843786 ; oboInOwl:hasExactSynonym "DYT15", "dystonia 15, myoclonic" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1843786 ; biolink:category biolink:Disease . OMIM:607498 a owl:Class ; rdfs:label "migraine with or without aura, susceptibility to, 3" ; IAO:0000142 PMID:12473779 ; RO:0002525 CHR:9606chr6p21.1-p12.2 ; - oboInOwl:hasDbXref UMLS:C1843782 ; oboInOwl:hasExactSynonym "mgr3", "migraine with or without aura, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C1843782 ; biolink:category biolink:Disease . OMIM:607501 a owl:Class ; rdfs:label "migraine without aura, susceptibility to, 4" ; IAO:0000142 PMID:12474141 ; RO:0002525 CHR:9606chr14q21.2-q22.3 ; - oboInOwl:hasDbXref UMLS:C1843773 ; oboInOwl:hasExactSynonym "mgoa", "mgr4", "migraine without aura, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C1843773 ; biolink:category biolink:Disease . OMIM:607507 a owl:Class ; @@ -432542,10 +449220,10 @@ OMIM:607507 a owl:Class ; PMID:16733365, PMID:18800148, PMID:9347803 ; - oboInOwl:hasDbXref UMLS:C1835223, - UMLS:C1843772 ; oboInOwl:hasExactSynonym "psoriatic arthritis, susceptibility to", "psoriatic arthritis, susceptibility to, 1" ; + skos:exactMatch UMLS:C1835223, + UMLS:C1843772 ; biolink:category biolink:Disease . OMIM:607508 a owl:Class ; @@ -432555,20 +449233,20 @@ OMIM:607508 a owl:Class ; PMID:11735221, PMID:9596000 ; RO:0002525 CHR:9606chr19p13 ; - oboInOwl:hasDbXref UMLS:C1843771 ; oboInOwl:hasExactSynonym "mgr5", "migraine with or without aura, susceptibility to, 5" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C1843771 ; biolink:category biolink:Disease . OMIM:607514 a owl:Class ; rdfs:label "body mass index quantitative trait locus 10" ; IAO:0000142 PMID:12478478, PMID:22343897 ; - oboInOwl:hasDbXref UMLS:C2675659 ; oboInOwl:hasExactSynonym "BMIQ10", "body mass index quantitative trait locus 10", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C2675659 ; biolink:category biolink:Disease . OMIM:607516 a owl:Class ; @@ -432577,24 +449255,24 @@ OMIM:607516 a owl:Class ; PMID:9371899, PMID:9403481 ; RO:0002525 CHR:9606chr1q31 ; - oboInOwl:hasDbXref UMLS:C1843765, - UMLS:C1843766, - ORPHA:569 ; oboInOwl:hasExactSynonym "mgr6", "migraine with or without aura, susceptibility to, 6", "migraine, familial hemiplegic, 4" ; rdfs:subClassOf OMIMPS:141500, OMIMPS:157300 ; + skos:exactMatch UMLS:C1843765, + UMLS:C1843766, + ORPHA:569 ; biolink:category biolink:Disease . OMIM:607584 a owl:Class ; rdfs:label "spastic paraplegia 24, autosomal recessive" ; IAO:0000142 PMID:12499481 ; RO:0002525 CHR:9606chr13q14 ; - oboInOwl:hasDbXref UMLS:C1843569 ; oboInOwl:hasExactSynonym "SPG24", "spastic paraplegia 24, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1843569 ; biolink:category biolink:Disease . OMIM:607592 a owl:Class ; @@ -432602,9 +449280,9 @@ OMIM:607592 a owl:Class ; IAO:0000142 PMID:10825281, PMID:12563560 ; RO:0002525 CHR:9606chr19q ; - oboInOwl:hasDbXref UMLS:C1843533 ; oboInOwl:hasExactSynonym "hpcqtl19", "prostate cancer aggressiveness quantitative trait locus on chromosome 19" ; + skos:exactMatch UMLS:C1843533 ; biolink:category biolink:Disease . OMIM:607594 a owl:Class ; @@ -432632,23 +449310,23 @@ OMIM:607594 a owl:Class ; PMID:782241, PMID:8438047, PMID:9789054 ; - oboInOwl:hasDbXref UMLS:C0009447, - UMLS:C3149378 ; oboInOwl:hasExactSynonym "CVID1", "antibody deficiency due to icos defect", "immunodeficiency, common variable", "immunodeficiency, common variable, 1" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C0009447, + UMLS:C3149378 ; biolink:category biolink:Disease . OMIM:607602 a owl:Class ; rdfs:label "ichthyosis, cyclic, with epidermolytic hyperkeratosis" ; IAO:0000142 PMID:10053007, PMID:9036939 ; - oboInOwl:hasDbXref UMLS:C1843463 ; oboInOwl:hasExactSynonym "ciehk", "epidermolytic ichthyosis, annular", "ichthyosis, cyclic, with epidermolytic hyperkeratosis" ; + skos:exactMatch UMLS:C1843463 ; biolink:category biolink:Disease . OMIM:607616 a owl:Class ; @@ -432683,16 +449361,16 @@ OMIM:607616 a owl:Class ; PMID:6173762, PMID:6264784, PMID:7236073 ; - oboInOwl:hasDbXref UMLS:C0268243, - UMLS:C0268248, - UMLS:C1843418, - UMLS:C2675644 ; oboInOwl:hasExactSynonym "acid sphingomyelinase deficiency, visceral iia", "asmd, visceral iia", "niemann-pick disease, iia B", "niemann-pick disease, iia e", "niemann-pick disease, iia f", "niemann-pick disease, intermediate, with visceral involvement and rapid progression" ; + skos:exactMatch UMLS:C0268243, + UMLS:C0268248, + UMLS:C1843418, + UMLS:C2675644 ; biolink:category biolink:Disease . OMIM:607625 a owl:Class ; @@ -432704,10 +449382,10 @@ OMIM:607625 a owl:Class ; PMID:17470133, PMID:8071958, PMID:8554047 ; - oboInOwl:hasDbXref UMLS:C1843366, - ORPHA:646 ; oboInOwl:hasExactSynonym "NPC2", "niemann-pick disease, iia c2" ; + skos:exactMatch UMLS:C1843366, + ORPHA:646 ; biolink:category biolink:Disease . OMIM:607626 a owl:Class ; @@ -432715,12 +449393,12 @@ OMIM:607626 a owl:Class ; IAO:0000142 PMID:12164927, PMID:15521008, PMID:16619213 ; - oboInOwl:hasDbXref UMLS:C1843355 ; oboInOwl:hasExactSynonym "ILVASC", "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis", "ichthyosis-sclerosing cholangitis syndrome", "neonatal ichthyosis-sclerosing cholangitis syndrome", "nisch syndrome" ; + skos:exactMatch UMLS:C1843355 ; biolink:category biolink:Disease . OMIM:607628 a owl:Class ; @@ -432730,9 +449408,6 @@ OMIM:607628 a owl:Class ; PMID:19191339, PMID:19710712, PMID:20037607 ; - oboInOwl:hasDbXref UMLS:C2750893, - UMLS:C2750894, - UMLS:C2750895 ; oboInOwl:hasExactSynonym "EIG11", "epilepsy, idiopathic generalized, susceptibility to, 11", "epilepsy, juvenile absence, susceptibility to, 2", @@ -432740,6 +449415,9 @@ OMIM:607628 a owl:Class ; rdfs:subClassOf OMIMPS:254770, OMIMPS:600669, OMIMPS:607631 ; + skos:exactMatch UMLS:C2750893, + UMLS:C2750894, + UMLS:C2750895 ; biolink:category biolink:Disease . OMIM:607631 a owl:Class ; @@ -432750,11 +449428,11 @@ OMIM:607631 a owl:Class ; PMID:2502382, PMID:7964917, PMID:9259378 ; - oboInOwl:hasDbXref UMLS:C2750892 ; oboInOwl:hasExactSynonym "EJA1", "epilepsy, juvenile absence, susceptibility to, 1", "jae1" ; rdfs:subClassOf OMIMPS:607631 ; + skos:exactMatch UMLS:C2750892 ; biolink:category biolink:Disease . OMIM:607644 a owl:Class ; @@ -432763,20 +449441,20 @@ OMIM:607644 a owl:Class ; PMID:12774035 ; RO:0002525 CHR:9606chr11p13-q12 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C1843306 ; oboInOwl:hasExactSynonym "CANDF3", "candidiasis, familial chronic nail, with icam1 deficiency", "candidiasis, familial, 3", "fcnc" ; rdfs:subClassOf OMIMPS:114580 ; + skos:exactMatch UMLS:C1843306 ; biolink:category biolink:Disease . OMIM:607655 a owl:Class ; rdfs:label "skin fragility-woolly hair syndrome" ; IAO:0000142 PMID:11841538 ; - oboInOwl:hasDbXref UMLS:C1843292 ; oboInOwl:hasExactSynonym "SFWHS", "skin fragility-woolly hair syndrome" ; + skos:exactMatch UMLS:C1843292 ; biolink:category biolink:Disease . OMIM:607671 a owl:Class ; @@ -432784,22 +449462,22 @@ OMIM:607671 a owl:Class ; IAO:0000142 PMID:11261511, PMID:9120448 ; RO:0002525 CHR:9606chr1p36.32-p36.13 ; - oboInOwl:hasDbXref UMLS:C1843264 ; oboInOwl:hasExactSynonym "DYT13", "dystonia 13, torsion, autosomal dominant" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1843264 ; biolink:category biolink:Disease . OMIM:607682 a owl:Class ; rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 9" ; IAO:0000142 PMID:10762541 ; - oboInOwl:hasDbXref UMLS:C2750887, - UMLS:C2750888 ; oboInOwl:hasExactSynonym "EIG9", "epilepsy, idiopathic generalized, susceptibility to, 9", "epilepsy, juvenile myoclonic, susceptibility to, 6" ; rdfs:subClassOf OMIMPS:254770, OMIMPS:600669 ; + skos:exactMatch UMLS:C2750887, + UMLS:C2750888 ; biolink:category biolink:Disease . OMIM:607684 a owl:Class ; @@ -432812,11 +449490,11 @@ OMIM:607684 a owl:Class ; PMID:17881652, PMID:22206013, PMID:25264603 ; - oboInOwl:hasDbXref UMLS:C1843225 ; oboInOwl:hasExactSynonym "CMT2E", "charcot-marie-tooth disease, axonal, iia 2e", "charcot-marie-tooth neuropathy, iia 2e" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1843225 ; biolink:category biolink:Disease . OMIM:607685 a owl:Class ; @@ -432831,9 +449509,9 @@ OMIM:607685 a owl:Class ; PMID:14668459, PMID:8018930, PMID:8302319 ; - oboInOwl:hasDbXref UMLS:C0206141 ; oboInOwl:hasExactSynonym "HES", "hypereosinophilic syndrome, idiopathic" ; + skos:exactMatch UMLS:C0206141 ; biolink:category biolink:Disease . OMIM:607687 a owl:Class ; @@ -432842,9 +449520,9 @@ OMIM:607687 a owl:Class ; PMID:19060911, PMID:19844255 ; RO:0002525 CHR:9606chr16q24.1 ; - oboInOwl:hasDbXref UMLS:C1843212 ; oboInOwl:hasExactSynonym "hdlcq3", "high density lipoprotein cholesterol level quantitative trait locus 3" ; + skos:exactMatch UMLS:C1843212 ; biolink:category biolink:Disease . OMIM:607688 a owl:Class ; @@ -432860,10 +449538,10 @@ OMIM:607688 a owl:Class ; PMID:19279319, PMID:19449032, PMID:19744960 ; - oboInOwl:hasDbXref UMLS:C4083045 ; oboInOwl:hasExactSynonym "PARK11", "parkinson disease 11, autosomal dominant, susceptibility to" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C4083045 ; biolink:category biolink:Disease . OMIM:607694 a owl:Class ; @@ -432877,12 +449555,6 @@ OMIM:607694 a owl:Class ; PMID:21855841, PMID:22036171, PMID:25339210 ; - oboInOwl:hasDbXref UMLS:C2676243, - ORPHA:137639, - ORPHA:447893, - ORPHA:447896, - ORPHA:77295, - ORPHA:88637 ; oboInOwl:hasExactSynonym "4h leukodystrophy 1", "4h syndrome", "HLD7", @@ -432891,6 +449563,12 @@ OMIM:607694 a owl:Class ; "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism", "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C2676243, + ORPHA:137639, + ORPHA:447893, + ORPHA:447896, + ORPHA:77295, + ORPHA:88637 ; biolink:category biolink:Disease . OMIM:607721 a owl:Class ; @@ -432906,9 +449584,6 @@ OMIM:607721 a owl:Class ; PMID:30348783, PMID:31059601, PMID:9301585 ; - oboInOwl:hasDbXref UMLS:C1843181, - UMLS:C4478716, - ORPHA:2701 ; oboInOwl:hasExactSynonym "NSLH1", "mazzanti syndrome", "noonan syndrome-like disorder with loose anagen hair 1", @@ -432916,6 +449591,9 @@ OMIM:607721 a owl:Class ; "tosti syndrome" ; rdfs:subClassOf OMIMPS:163950, OMIMPS:607721 ; + skos:exactMatch UMLS:C1843181, + UMLS:C4478716, + ORPHA:2701 ; biolink:category biolink:Disease . OMIM:607728 a owl:Class ; @@ -432926,23 +449604,23 @@ OMIM:607728 a owl:Class ; PMID:22983302, PMID:9188872 ; RO:0002525 CHR:9606chr15q25.1-q26.1 ; - oboInOwl:hasDbXref UMLS:C1843180 ; oboInOwl:hasExactSynonym "POROK4", "porokeratosis 4, disseminated superficial actinic iia", "porokeratosis, disseminated superficial actinic, 2" ; rdfs:subClassOf OMIMPS:175800 ; + skos:exactMatch UMLS:C1843180 ; biolink:category biolink:Disease . OMIM:607731 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2h" ; IAO:0000142 PMID:11166163 ; RO:0002525 CHR:9606chr8q13-q23 ; - oboInOwl:hasDbXref UMLS:C1843173 ; oboInOwl:hasExactSynonym "CMT2H", "charcot-marie-tooth disease, axonal, iia 2h", "charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive", "charcot-marie-tooth neuropathy, axonal, with pyramidal features, autosomal recessive" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1843173 ; biolink:category biolink:Disease . OMIM:607748 a owl:Class ; @@ -432951,11 +449629,11 @@ OMIM:607748 a owl:Class ; PMID:12704386, PMID:12878321, PMID:9141436 ; - oboInOwl:hasDbXref UMLS:C1843139 ; oboInOwl:hasExactSynonym "FHCA1", "bile acid, elevated serum", "hypercholanemia, familial 1" ; rdfs:subClassOf OMIMPS:607748 ; + skos:exactMatch UMLS:C1843139 ; biolink:category biolink:Disease . OMIM:607785 a owl:Class ; @@ -432980,12 +449658,12 @@ OMIM:607785 a owl:Class ; PMID:25939664, PMID:9160658, PMID:9616134 ; - oboInOwl:hasDbXref UMLS:C0023480, - UMLS:C0349639 ; oboInOwl:hasExactSynonym "JMML", "juvenile myelomonocytic leukemia", "leukemia, chronic myelomonocytic", "leukemia, juvenile myelomonocytic" ; + skos:exactMatch UMLS:C0023480, + UMLS:C0349639 ; biolink:category biolink:Disease . OMIM:607812 a owl:Class ; @@ -432993,19 +449671,19 @@ OMIM:607812 a owl:Class ; IAO:0000142 PMID:12677423, PMID:16980979, PMID:21039434 ; - oboInOwl:hasDbXref UMLS:C1843042 ; oboInOwl:hasExactSynonym "CLSD", "boyadjiev-jabs syndrome", "craniolenticulosutural dysplasia" ; + skos:exactMatch UMLS:C1843042 ; biolink:category biolink:Disease . OMIM:607821 a owl:Class ; rdfs:label "deafness, autosomal recessive 37" ; IAO:0000142 PMID:12687499 ; - oboInOwl:hasDbXref UMLS:C1843028 ; oboInOwl:hasExactSynonym "DFNB37", "deafness, autosomal recessive 37" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1843028 ; biolink:category biolink:Disease . OMIM:607831 a owl:Class ; @@ -433018,14 +449696,14 @@ OMIM:607831 a owl:Class ; PMID:20685671, PMID:21753178, PMID:25168384 ; - oboInOwl:hasDbXref UMLS:C1842983, - UMLS:C1842984 ; oboInOwl:hasExactSynonym "CMT2K", "charcot-marie-tooth disease, autosomal dominant, iia 2k", "charcot-marie-tooth disease, axonal, iia 2k", "charcot-marie-tooth disease, axonal, autosomal recessive, iia 2k", "charcot-marie-tooth neuropathy, axonal, iia 2k" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1842983, + UMLS:C1842984 ; biolink:category biolink:Disease . OMIM:607832 a owl:Class ; @@ -433033,11 +449711,11 @@ OMIM:607832 a owl:Class ; IAO:0000142 PMID:12764198, PMID:16932363, PMID:17713465 ; - oboInOwl:hasDbXref UMLS:C1842982 ; oboInOwl:hasExactSynonym "FSGS3", "focal segmental glomerulosclerosis 3, susceptibility to", "glomerulosclerosis, focal segmental, 3, susceptibility to" ; rdfs:subClassOf OMIMPS:603278 ; + skos:exactMatch UMLS:C1842982 ; biolink:category biolink:Disease . OMIM:607836 a owl:Class ; @@ -433046,11 +449724,11 @@ OMIM:607836 a owl:Class ; PMID:11912181, PMID:12707860, PMID:16098053 ; - oboInOwl:hasDbXref UMLS:C1842979 ; oboInOwl:hasExactSynonym "AIS1", "autoimmune disease susceptibility locus, chromosome 1p-related", "autoimmune disease, susceptibility to, 1", "vitiligo-associated multiple autoimmune disease susceptibility 2" ; + skos:exactMatch UMLS:C1842979 ; biolink:category biolink:Disease . OMIM:607842 a owl:Class ; @@ -433062,41 +449740,41 @@ OMIM:607842 a owl:Class ; PMID:24487590, PMID:2770382, PMID:3389235 ; - oboInOwl:hasDbXref UMLS:C1842937, - ORPHA:141074 ; oboInOwl:hasExactSynonym "CAA", "aural atresia, congenital", "aural atresia, congenital, with hyposmia" ; + skos:exactMatch UMLS:C1842937, + ORPHA:141074 ; biolink:category biolink:Disease . OMIM:607850 a owl:Class ; rdfs:label "osteoarthritis susceptibility 3" ; IAO:0000142 PMID:15640800, PMID:17024313 ; - oboInOwl:hasDbXref UMLS:C2675609 ; oboInOwl:hasExactSynonym "OS3", "osteoarthritis of knee/hip", "osteoarthritis susceptibility 3" ; + skos:exactMatch UMLS:C2675609 ; biolink:category biolink:Disease . OMIM:607853 a owl:Class ; rdfs:label "panic disorder 2" ; IAO:0000142 PMID:12679899 ; RO:0002525 CHR:9606chr9q31 ; - oboInOwl:hasDbXref UMLS:C1842922 ; oboInOwl:hasExactSynonym "pand2", "panic disorder 2", "panic disorder susceptibility locus, chromosome 9q-related" ; + skos:exactMatch UMLS:C1842922 ; biolink:category biolink:Disease . OMIM:607857 a owl:Class ; rdfs:label "psoriasis 9, susceptibility to" ; IAO:0000142 PMID:12485440 ; RO:0002525 CHR:9606chr4q31-q34 ; - oboInOwl:hasDbXref UMLS:C1842897 ; oboInOwl:hasExactSynonym "PSORS9", "psoriasis 9, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C1842897 ; biolink:category biolink:Disease . OMIM:607876 a owl:Class ; @@ -433111,22 +449789,22 @@ OMIM:607876 a owl:Class ; PMID:22491192, PMID:24114805, PMID:31664034 ; - oboInOwl:hasDbXref UMLS:C1842852 ; oboInOwl:hasExactSynonym "FAME2", "benign adult familial myoclonic epilepsy 2", "cortical myoclonic tremor with epilepsy, familial, 2", "cortical myoclonus and epilepsy, autosomal dominant", "epilepsy, familial adult myoclonic, 2" ; rdfs:subClassOf OMIMPS:601068 ; + skos:exactMatch UMLS:C1842852 ; biolink:category biolink:Disease . OMIM:607893 a owl:Class ; rdfs:label "ovarian cancer, susceptibility to, 1" ; IAO:0000142 PMID:11440995 ; RO:0002525 CHR:9606chr3p25-p22 ; - oboInOwl:hasDbXref UMLS:C2675601 ; oboInOwl:hasExactSynonym "OVCAS1", "ovarian cancer, susceptibility to, 1" ; + skos:exactMatch UMLS:C2675601 ; biolink:category biolink:Disease . OMIM:607921 a owl:Class ; @@ -433139,12 +449817,12 @@ OMIM:607921 a owl:Class ; PMID:16799052, PMID:17251446, PMID:18450588 ; - oboInOwl:hasDbXref UMLS:C0024437, - UMLS:C1842816 ; oboInOwl:hasExactSynonym "RP30", "macular degeneration", "retinitis pigmentosa 30" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C0024437, + UMLS:C1842816 ; biolink:category biolink:Disease . OMIM:607932 a owl:Class ; @@ -433162,13 +449840,13 @@ OMIM:607932 a owl:Class ; PMID:7682620, PMID:7891380, PMID:9605291 ; - oboInOwl:hasDbXref UMLS:C1864689 ; oboInOwl:hasExactSynonym "MCOPS6", "anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia", "microphthalmia and pituitary anomalies", "microphthalmia with brain and digit developmental anomalies", "microphthalmia, syndromic 6" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C1864689 ; biolink:category biolink:Disease . OMIM:607936 a owl:Class ; @@ -433178,22 +449856,22 @@ OMIM:607936 a owl:Class ; PMID:22066523, PMID:23534700, PMID:25400170 ; - oboInOwl:hasDbXref UMLS:C1838440, - UMLS:C4225407 ; oboInOwl:hasExactSynonym "PSS4", "ichthyosis bullosa of siemens-like", "ichthyosis, exfoliative, autosomal recessive", "peeling skin syndrome 4" ; rdfs:subClassOf OMIMPS:270300 ; + skos:exactMatch UMLS:C1838440, + UMLS:C4225407 ; biolink:category biolink:Disease . OMIM:607949 a owl:Class ; rdfs:label "mycobacterium tuberculosis, susceptibility to, 1" ; IAO:0000142 PMID:10882571 ; RO:0002525 CHR:9606chr2q35 ; - oboInOwl:hasDbXref UMLS:C1842762 ; oboInOwl:hasExactSynonym "mtbs1", "mycobacterium tuberculosis, susceptibility to, 1" ; + skos:exactMatch UMLS:C1842762 ; biolink:category biolink:Disease . OMIM:607962 a owl:Class ; @@ -433204,14 +449882,15 @@ OMIM:607962 a owl:Class ; PMID:17108080, PMID:19219026, PMID:19574461 ; - oboInOwl:hasDbXref UMLS:C1842758 ; oboInOwl:hasExactSynonym "MIR23A", "micro RNA 23a", "mirn23a", "mirna23a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:407010 ; - skos:exactMatch HGNC_symbol:MIR23A ; + skos:exactMatch UMLS:C1842758, + HGNC:31605, + HGNC_symbol:MIR23A ; biolink:category biolink:Gene . OMIM:607965 a owl:Class ; @@ -433219,9 +449898,9 @@ OMIM:607965 a owl:Class ; IAO:0000142 PMID:12215904, PMID:9116704 ; RO:0002525 CHR:9606chr10q22.3 ; - oboInOwl:hasDbXref UMLS:C1842757 ; oboInOwl:hasExactSynonym "SLEN1", "systemic lupus erythematosus with nephritis, susceptibility to, 1" ; + skos:exactMatch UMLS:C1842757 ; biolink:category biolink:Disease . OMIM:607966 a owl:Class ; @@ -433229,9 +449908,9 @@ OMIM:607966 a owl:Class ; IAO:0000142 PMID:12215904, PMID:9116704 ; RO:0002525 CHR:9606chr2q34-q35 ; - oboInOwl:hasDbXref UMLS:C1842756 ; oboInOwl:hasExactSynonym "SLEN2", "systemic lupus erythematosus with nephritis, susceptibility to, 2" ; + skos:exactMatch UMLS:C1842756 ; biolink:category biolink:Disease . OMIM:607967 a owl:Class ; @@ -433239,9 +449918,9 @@ OMIM:607967 a owl:Class ; IAO:0000142 PMID:12215904, PMID:9116704 ; RO:0002525 CHR:9606chr11p15.5 ; - oboInOwl:hasDbXref UMLS:C1842755 ; oboInOwl:hasExactSynonym "SLEN3", "systemic lupus erythematosus with nephritis, susceptibility to, 3" ; + skos:exactMatch UMLS:C1842755 ; biolink:category biolink:Disease . OMIM:608022 a owl:Class ; @@ -433252,18 +449931,18 @@ OMIM:608022 a owl:Class ; PMID:17764081, PMID:20869035, PMID:30006055 ; - oboInOwl:hasDbXref UMLS:C1842691 ; oboInOwl:hasExactSynonym "diaphanospondylodysostosis", "vertebral ossification, defect in, with nephrogenic rests" ; + skos:exactMatch UMLS:C1842691 ; biolink:category biolink:Disease . OMIM:608026 a owl:Class ; rdfs:label "hypertensive nephropathy" ; IAO:0000142 PMID:12840782 ; RO:0002525 CHR:9606chr9q31-q32 ; - oboInOwl:hasDbXref UMLS:C0848548 ; oboInOwl:hasExactSynonym "HNP1", "hypertensive nephropathy" ; + skos:exactMatch UMLS:C0848548 ; biolink:category biolink:Disease . OMIM:608027 a owl:Class ; @@ -433272,12 +449951,12 @@ OMIM:608027 a owl:Class ; PMID:19277761, PMID:25832664, PMID:8912329 ; - oboInOwl:hasDbXref UMLS:C1842687 ; oboInOwl:hasExactSynonym "PCH3", "cerebellar atrophy with progressive microcephaly", "pch with optic atrophy", "pontocerebellar hypoplasia, iia 3" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C1842687 ; biolink:category biolink:Disease . OMIM:608029 a owl:Class ; @@ -433285,22 +449964,22 @@ OMIM:608029 a owl:Class ; IAO:0000142 PMID:12811539, PMID:4003033 ; RO:0002525 CHR:9606chr20q11-q13 ; - oboInOwl:hasDbXref UMLS:C1842676 ; oboInOwl:hasExactSynonym "SCAR6", "cerebellar ataxia, infantile nonprogressive, autosomal recessive", "norwegian infantile onset ataxia", "spinocerebellar ataxia, autosomal recessive 6" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C1842676 ; biolink:category biolink:Disease . OMIM:608031 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 7" ; IAO:0000142 PMID:12858291 ; RO:0002525 CHR:9606chr20p13 ; - oboInOwl:hasDbXref UMLS:C1842674 ; oboInOwl:hasExactSynonym "ALS7", "amyotrophic lateral sclerosis 7" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C1842674 ; biolink:category biolink:Disease . OMIM:608033 a owl:Class ; @@ -433310,11 +449989,11 @@ OMIM:608033 a owl:Class ; PMID:19118815, PMID:19811512, PMID:21205700 ; - oboInOwl:hasDbXref UMLS:C2675556 ; oboInOwl:hasExactSynonym "IIAE3", "encephalopathy, acute necrotizing, susceptibility to", "encephalopathy, acute, infection-induced, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:610551 ; + skos:exactMatch UMLS:C2675556 ; biolink:category biolink:Disease . OMIM:608035 a owl:Class ; @@ -433322,10 +450001,10 @@ OMIM:608035 a owl:Class ; IAO:0000142 PMID:12844286, PMID:15236317 ; RO:0002525 CHR:9606chr1p22 ; - oboInOwl:hasDbXref UMLS:C1842643 ; oboInOwl:hasExactSynonym "CMM4", "melanoma, cutaneous malignant, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:155600 ; + skos:exactMatch UMLS:C1842643 ; biolink:category biolink:Disease . OMIM:608036 a owl:Class ; @@ -433334,20 +450013,20 @@ OMIM:608036 a owl:Class ; PMID:12851856 ; RO:0002525 CHR:9606chr5q34-q35.2 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1842642 ; oboInOwl:hasExactSynonym " iia 2 diabetes mellitus 4", "T2D4", "diabetes mellitus, noninsulin-dependent, 4", "noninsulin-dependent diabetes mellitus 4" ; + skos:exactMatch UMLS:C1842642 ; biolink:category biolink:Disease . OMIM:608045 a owl:Class ; rdfs:label "repressor of telomerase expression 1" ; IAO:0000142 PMID:11314017, PMID:12796538 ; - oboInOwl:hasDbXref UMLS:C1842633 ; oboInOwl:hasExactSynonym "repressor of telomerase expression 1", "rte1" ; + skos:exactMatch UMLS:C1842633 ; biolink:category biolink:Disease . OMIM:608048 a owl:Class ; @@ -433357,13 +450036,14 @@ OMIM:608048 a owl:Class ; PMID:12837266, PMID:17108083, PMID:19079240 ; - oboInOwl:hasDbXref UMLS:C1426173 ; oboInOwl:hasExactSynonym "SHPRH", "rad5, yeast, homolog of", "snf2, linker histone, phd finger, ring finger, and helicase domains-containing protein" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:257218 ; - skos:exactMatch HGNC_symbol:SHPRH ; + skos:exactMatch UMLS:C1426173, + HGNC:19336, + HGNC_symbol:SHPRH ; biolink:category biolink:Gene . OMIM:608049 a owl:Class ; @@ -433376,10 +450056,10 @@ OMIM:608049 a owl:Class ; PMID:3377648, PMID:8655659 ; RO:0002525 CHR:9606chr13q14.2-q14.1 ; - oboInOwl:hasDbXref UMLS:C1842632 ; oboInOwl:hasExactSynonym "AUTS3", "autism, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1842632 ; biolink:category biolink:Disease . OMIM:608062 a owl:Class ; @@ -433388,14 +450068,15 @@ OMIM:608062 a owl:Class ; PMID:12820024, PMID:16554811, PMID:16869982 ; - oboInOwl:hasDbXref UMLS:C1427037 ; oboInOwl:hasExactSynonym "DCDC1", "doublecortin domain-containing protein 1", "doublecortin domain-containing protein 5", "kiaa1493" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:341019 ; - skos:exactMatch HGNC_symbol:DCDC1 ; + skos:exactMatch UMLS:C1427037, + HGNC:20625, + HGNC_symbol:DCDC1 ; biolink:category biolink:Gene . OMIM:608068 a owl:Class ; @@ -433410,13 +450091,13 @@ OMIM:608068 a owl:Class ; PMID:5706799, PMID:5810898, PMID:8089280 ; - oboInOwl:hasDbXref UMLS:C0085077, - ORPHA:3243 ; oboInOwl:hasExactSynonym "AFND", "gomm-button disease", "neutrophilic dermatosis, acute febrile", "pyrin-associated autoinflammatory disease", "sweet syndrome" ; + skos:exactMatch UMLS:C0085077, + ORPHA:3243 ; biolink:category biolink:Disease . OMIM:608078 a owl:Class ; @@ -433426,10 +450107,10 @@ OMIM:608078 a owl:Class ; PMID:20713722 ; RO:0002525 CHR:9606chr10q22.3 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1842605 ; oboInOwl:hasExactSynonym "schizophrenia 11", "schizophrenia susceptibility locus, chromosome 10q-related", "sczd11" ; + skos:exactMatch UMLS:C1842605 ; biolink:category biolink:Disease . OMIM:608088 a owl:Class ; @@ -433437,11 +450118,11 @@ OMIM:608088 a owl:Class ; IAO:0000142 PMID:12870133, PMID:16311270 ; RO:0002525 CHR:9606chr3p24-p22 ; - oboInOwl:hasDbXref UMLS:C1842586 ; oboInOwl:hasExactSynonym "neuropathy, hereditary sensory and autonomic, iia 1b", "neuropathy, hereditary sensory and autonomic, iia i, with cough and gastroesophageal reflux", "neuropathy, hereditary sensory, iia 1b" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C1842586 ; biolink:category biolink:Disease . OMIM:608096 a owl:Class ; @@ -433460,11 +450141,11 @@ OMIM:608096 a owl:Class ; PMID:9484399 ; RO:0002525 CHR:9606chr12q22-q23.3 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C4759869 ; oboInOwl:hasExactSynonym "ETL2", "epilepsy, familial temporal lobe, 2", "ftle" ; rdfs:subClassOf OMIMPS:600512 ; + skos:exactMatch UMLS:C4759869 ; biolink:category biolink:Disease . OMIM:608097 a owl:Class ; @@ -433472,23 +450153,23 @@ OMIM:608097 a owl:Class ; IAO:0000142 PMID:12682315, PMID:14647276, PMID:23812912 ; - oboInOwl:hasDbXref UMLS:C1842563 ; oboInOwl:hasExactSynonym "ARPHM", "heterotopia, periventricular, autosomal recessive", "periventricular heterotopia with microcephaly, autosomal recessive", "periventricular nodular heterotopia 2" ; rdfs:subClassOf OMIMPS:300049 ; + skos:exactMatch UMLS:C1842563 ; biolink:category biolink:Disease . OMIM:608098 a owl:Class ; rdfs:label "periventricular nodular heterotopia 3" ; IAO:0000142 PMID:12654978 ; RO:0002525 CHR:9606chr5p15.1 ; - oboInOwl:hasDbXref UMLS:C1842562 ; oboInOwl:hasExactSynonym "PVNH3", "heterotopia, periventricular, associated with chromosome 5p anomalies", "periventricular nodular heterotopia 3" ; rdfs:subClassOf OMIMPS:300049 ; + skos:exactMatch UMLS:C1842562 ; biolink:category biolink:Disease . OMIM:608099 a owl:Class ; @@ -433514,23 +450195,23 @@ OMIM:608099 a owl:Class ; PMID:8628353, PMID:9032047, PMID:9585331 ; - oboInOwl:hasDbXref UMLS:C2936332 ; oboInOwl:hasExactSynonym "LGMDR3", "adhalinopathy, primary", "duchenne-like autosomal recessive muscular dystrophy, iia 2", "muscular dystrophy, limb-girdle, iia 2d", "muscular dystrophy, limb-girdle, autosomal recessive 3" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C2936332 ; biolink:category biolink:Disease . OMIM:608106 a owl:Class ; rdfs:label "immunodeficiency with hyper-igm, iia 5" ; IAO:0000142 PMID:12958596 ; - oboInOwl:hasDbXref UMLS:C1720958 ; oboInOwl:hasExactSynonym "HIGM5", "hyper-igm syndrome 5", "immunodeficiency with hyper-igm, iia 5" ; rdfs:subClassOf OMIMPS:308230 ; + skos:exactMatch UMLS:C1720958 ; biolink:category biolink:Disease . OMIM:608118 a owl:Class ; @@ -433543,12 +450224,12 @@ OMIM:608118 a owl:Class ; PMID:3380757, PMID:6413773, PMID:7192074 ; - oboInOwl:hasDbXref UMLS:C1842485, - UMLS:C1842486 ; oboInOwl:hasExactSynonym "TNZD", "zinc 1n breast milk, reduced", "zinc deficiency, neonatal, due to low breast milk zinc", "zinc deficiency, transient neonatal" ; + skos:exactMatch UMLS:C1842485, + UMLS:C1842486 ; biolink:category biolink:Disease . OMIM:608133 a owl:Class ; @@ -433563,15 +450244,15 @@ OMIM:608133 a owl:Class ; PMID:8202715, PMID:8240110, PMID:8485576 ; - oboInOwl:hasDbXref UMLS:C1842475, - UMLS:C2675552, - UMLS:C4013102 ; oboInOwl:hasExactSynonym "RP7", "leber congenital amaurosis 18", "retinitis pigmentosa 7", "retinitis pigmentosa 7, digenic" ; rdfs:subClassOf OMIMPS:204000, OMIMPS:268000 ; + skos:exactMatch UMLS:C1842475, + UMLS:C2675552, + UMLS:C4013102 ; biolink:category biolink:Disease . OMIM:608173 a owl:Class ; @@ -433583,9 +450264,9 @@ OMIM:608173 a owl:Class ; PMID:18406788, PMID:8491150 ; RO:0002525 CHR:9606chr6p11 ; - oboInOwl:hasDbXref UMLS:C1842446 ; oboInOwl:hasExactSynonym "aitd1", "autoimmune thyroid disease, susceptibility to, 1" ; + skos:exactMatch UMLS:C1842446 ; biolink:category biolink:Disease . OMIM:608174 a owl:Class ; @@ -433596,18 +450277,18 @@ OMIM:608174 a owl:Class ; PMID:16195814, PMID:19126779 ; RO:0002525 CHR:9606chr5q31-q33 ; - oboInOwl:hasDbXref UMLS:C1842445 ; oboInOwl:hasExactSynonym "aitd2", "autoimmune thyroid disease, susceptibility to, 2" ; + skos:exactMatch UMLS:C1842445 ; biolink:category biolink:Disease . OMIM:608176 a owl:Class ; rdfs:label "autoimmune thyroid disease, susceptibility to, 4" ; IAO:0000142 PMID:12973666 ; RO:0002525 CHR:9606chr10q ; - oboInOwl:hasDbXref UMLS:C1842443 ; oboInOwl:hasExactSynonym "aitd4", "autoimmune thyroid disease, susceptibility to, 4" ; + skos:exactMatch UMLS:C1842443 ; biolink:category biolink:Disease . OMIM:608180 a owl:Class ; @@ -433617,10 +450298,10 @@ OMIM:608180 a owl:Class ; PMID:8831136, PMID:9690000, PMID:9730609 ; - oboInOwl:hasDbXref UMLS:C1842422 ; oboInOwl:hasExactSynonym "SPD2", "synpolydactyly 2", "synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses" ; + skos:exactMatch UMLS:C1842422 ; biolink:category biolink:Disease . OMIM:608189 a owl:Class ; @@ -433630,9 +450311,9 @@ OMIM:608189 a owl:Class ; PMID:16492714, PMID:2813331, PMID:9788542 ; - oboInOwl:hasDbXref UMLS:C1842402 ; oboInOwl:hasExactSynonym "tcp", "tropical calcific pancreatitis" ; + skos:exactMatch UMLS:C1842402 ; biolink:category biolink:Disease . OMIM:608207 a owl:Class ; @@ -433644,32 +450325,32 @@ OMIM:608207 a owl:Class ; PMID:19397557, PMID:23291585 ; RO:0002525 CHR:9606chr22q12 ; - oboInOwl:hasDbXref UMLS:C1969520 ; oboInOwl:hasExactSynonym "KAZA1", "kala-azar, susceptibility to, 1", "leishmaniasis, visceral, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:608207 ; + skos:exactMatch UMLS:C1969520 ; biolink:category biolink:Disease . OMIM:608219 a owl:Class ; rdfs:label "deafness, autosomal recessive 38" ; IAO:0000142 PMID:12890929 ; RO:0002525 CHR:9606chr6q26-q27 ; - oboInOwl:hasDbXref UMLS:C1842381 ; oboInOwl:hasExactSynonym "DFNB38", "deafness, autosomal recessive 38" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1842381 ; biolink:category biolink:Disease . OMIM:608220 a owl:Class ; rdfs:label "spastic paraplegia 25, autosomal recessive" ; IAO:0000142 PMID:12070243 ; RO:0002525 CHR:9606chr6q23-q24.1 ; - oboInOwl:hasDbXref UMLS:C2936860 ; oboInOwl:hasExactSynonym "SPG25", "disc herniation with spastic paraplegia, autosomal recessive", "spastic paraplegia 25, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2936860 ; biolink:category biolink:Disease . OMIM:608224 a owl:Class ; @@ -433678,10 +450359,10 @@ OMIM:608224 a owl:Class ; PMID:16195816, PMID:23345450, PMID:24211385 ; - oboInOwl:hasDbXref UMLS:C1842371 ; oboInOwl:hasExactSynonym "DFNA41", "deafness, autosomal dominant 41" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1842371 ; biolink:category biolink:Disease . OMIM:608236 a owl:Class ; @@ -433689,48 +450370,48 @@ OMIM:608236 a owl:Class ; IAO:0000142 PMID:10520946, PMID:14508709, PMID:9678704 ; - oboInOwl:hasDbXref UMLS:C1842357 ; oboInOwl:hasExactSynonym "SNCV", "slowed nerve conduction velocity, autosomal dominant" ; + skos:exactMatch UMLS:C1842357 ; biolink:category biolink:Disease . OMIM:608244 a owl:Class ; rdfs:label "otosclerosis 3" ; IAO:0000142 PMID:12114476 ; RO:0002525 CHR:9606chr6p22.3-p21.3 ; - oboInOwl:hasDbXref UMLS:C1842353 ; oboInOwl:hasExactSynonym "OTSC3", "otosclerosis 3" ; rdfs:subClassOf OMIMPS:166800 ; + skos:exactMatch UMLS:C1842353 ; biolink:category biolink:Disease . OMIM:608251 a owl:Class ; rdfs:label "phobia, specific" ; IAO:0000142 PMID:12556910 ; RO:0002525 CHR:9606chrChr.14 ; - oboInOwl:hasDbXref UMLS:C0236801 ; oboInOwl:hasExactSynonym "phobia, simple", "phobia, specific" ; + skos:exactMatch UMLS:C0236801 ; biolink:category biolink:Disease . OMIM:608264 a owl:Class ; rdfs:label "deafness, autosomal recessive 40" ; IAO:0000142 PMID:14512974 ; RO:0002525 CHR:9606chr22q11.21-q12.1 ; - oboInOwl:hasDbXref UMLS:C1842345 ; oboInOwl:hasExactSynonym "DFNB40", "deafness, autosomal recessive 40" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1842345 ; biolink:category biolink:Disease . OMIM:608265 a owl:Class ; rdfs:label "deafness, autosomal recessive 39" ; IAO:0000142 PMID:14512973, PMID:19576567 ; - oboInOwl:hasDbXref UMLS:C1842342 ; oboInOwl:hasExactSynonym "DFNB39", "deafness, autosomal recessive 39" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1842342 ; biolink:category biolink:Disease . OMIM:608266 a owl:Class ; @@ -433739,9 +450420,9 @@ OMIM:608266 a owl:Class ; PMID:14585935, PMID:14585940, PMID:3985291 ; - oboInOwl:hasDbXref UMLS:C0687150 ; oboInOwl:hasExactSynonym "parathyroid carcinoma", "prtc" ; + skos:exactMatch UMLS:C0687150 ; biolink:category biolink:Disease . OMIM:608316 a owl:Class ; @@ -433752,9 +450433,9 @@ OMIM:608316 a owl:Class ; PMID:16380912, PMID:17149386 ; RO:0002525 CHR:9606chr2q21.1-q22 ; - oboInOwl:hasDbXref UMLS:C1842260 ; oboInOwl:hasExactSynonym "chds2", "coronary heart disease, susceptibility to, 2" ; + skos:exactMatch UMLS:C1842260 ; biolink:category biolink:Disease . OMIM:608317 a owl:Class ; @@ -433776,7 +450457,6 @@ OMIM:608317 a owl:Class ; PMID:8986742 ; RO:0002525 CHR:9606chr1p36.11 ; RO:0003303 OMIM:606713 ; - oboInOwl:hasDbXref UMLS:C1842259 ; oboInOwl:hasExactSynonym "GRHL3", "curly tail, mouse, homolog of", "grainyhead, drosophila, homolog of, 3", @@ -433786,16 +450466,18 @@ OMIM:608317 a owl:Class ; "transcription factor cp2-like 4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57822 ; - skos:exactMatch HGNC_symbol:GRHL3 ; + skos:exactMatch UMLS:C1842259, + HGNC:25839, + HGNC_symbol:GRHL3 ; biolink:category biolink:Gene . OMIM:608318 a owl:Class ; rdfs:label "coronary heart disease, susceptibility to, 4" ; IAO:0000142 PMID:11818963 ; RO:0002525 CHR:9606chr14q32 ; - oboInOwl:hasDbXref UMLS:C1842258 ; oboInOwl:hasExactSynonym "chds4", "coronary heart disease, susceptibility to, 4" ; + skos:exactMatch UMLS:C1842258 ; biolink:category biolink:Disease . OMIM:608320 a owl:Class ; @@ -433803,10 +450485,10 @@ OMIM:608320 a owl:Class ; IAO:0000142 PMID:14645853, PMID:15496429, PMID:15841183 ; - oboInOwl:hasDbXref UMLS:C1842247 ; oboInOwl:hasExactSynonym "ADCAD1", "coronary artery disease with myocardial infarction", "coronary artery disease, autosomal dominant, 1" ; + skos:exactMatch UMLS:C1842247 ; biolink:category biolink:Disease . OMIM:608345 a owl:Class ; @@ -433816,10 +450498,10 @@ OMIM:608345 a owl:Class ; PMID:8326501, PMID:9806847 ; RO:0002525 CHR:9606chr7p11.2 ; - oboInOwl:hasDbXref UMLS:C1842186 ; oboInOwl:hasExactSynonym "NYS3", "nystagmus 3, congenital, autosomal dominant" ; rdfs:subClassOf OMIMPS:310700 ; + skos:exactMatch UMLS:C1842186 ; biolink:category biolink:Disease . OMIM:608358 a owl:Class ; @@ -433838,11 +450520,11 @@ OMIM:608358 a owl:Class ; PMID:7522681, PMID:7682901, PMID:9008527 ; - oboInOwl:hasDbXref UMLS:C1842160 ; oboInOwl:hasExactSynonym "MSMA", "myopathy with lysis of iia 1 myofibrils", "myopathy, hyaline body, autosomal dominant", "myopathy, myosin storage, autosomal dominant" ; + skos:exactMatch UMLS:C1842160 ; biolink:category biolink:Disease . OMIM:608367 a owl:Class ; @@ -433852,11 +450534,11 @@ OMIM:608367 a owl:Class ; PMID:18293391, PMID:19122830 ; RO:0002525 CHR:9606chr7p15 ; - oboInOwl:hasDbXref UMLS:C3888211 ; oboInOwl:hasExactSynonym "MYP17", "myopia 17, autosomal dominant", "myopia 4, formerly" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C3888211 ; biolink:category biolink:Disease . OMIM:608371 a owl:Class ; @@ -433865,21 +450547,21 @@ OMIM:608371 a owl:Class ; PMID:12727354, PMID:7820940 ; RO:0002525 CHR:9606chr4q21-q31 ; - oboInOwl:hasDbXref UMLS:C1842143 ; oboInOwl:hasExactSynonym "OFC4", "cleft 51p with or without cleft palate, nonsyndromic, 4", "orofacial cleft 4" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1842143 ; biolink:category biolink:Disease . OMIM:608372 a owl:Class ; rdfs:label "deafness, autosomal dominant 49" ; IAO:0000142 PMID:14627674 ; RO:0002525 CHR:9606chr1q21-q23 ; - oboInOwl:hasDbXref UMLS:C1842136 ; oboInOwl:hasExactSynonym "DFNA49", "deafness, autosomal dominant 49" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1842136 ; biolink:category biolink:Disease . OMIM:608380 a owl:Class ; @@ -433887,10 +450569,10 @@ OMIM:608380 a owl:Class ; IAO:0000142 PMID:14681825, PMID:24043777, PMID:9507394 ; - oboInOwl:hasDbXref UMLS:C1842127 ; oboInOwl:hasExactSynonym "RP26", "retinitis pigmentosa 26" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1842127 ; biolink:category biolink:Disease . OMIM:608391 a owl:Class ; @@ -433898,11 +450580,11 @@ OMIM:608391 a owl:Class ; IAO:0000142 PMID:11912181, PMID:14691733 ; RO:0002525 CHR:9606chrChr.7 ; - oboInOwl:hasDbXref UMLS:C1842113 ; oboInOwl:hasExactSynonym "AIS2", "autoimmune disease susceptibility locus, chromosome 7-related", "autoimmune disease, susceptibility to, 2", "vitiligo-associated multiple autoimmune disease susceptibility 3" ; + skos:exactMatch UMLS:C1842113 ; biolink:category biolink:Disease . OMIM:608392 a owl:Class ; @@ -433910,11 +450592,11 @@ OMIM:608392 a owl:Class ; IAO:0000142 PMID:11912181, PMID:14691733 ; RO:0002525 CHR:9606chrChr.8 ; - oboInOwl:hasDbXref UMLS:C1842112 ; oboInOwl:hasExactSynonym "AIS3", "autoimmune disease susceptibility locus, chromosome 8-related", "autoimmune disease, susceptibility to, 3", "vitiligo-associated multiple autoimmune disease susceptibility 4" ; + skos:exactMatch UMLS:C1842112 ; biolink:category biolink:Disease . OMIM:608393 a owl:Class ; @@ -433924,20 +450606,20 @@ OMIM:608393 a owl:Class ; PMID:16900296, PMID:20978018, PMID:22775483 ; - oboInOwl:hasDbXref UMLS:C1842109 ; oboInOwl:hasExactSynonym "MCPH6", "microcephaly 6, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C1842109 ; biolink:category biolink:Disease . OMIM:608394 a owl:Class ; rdfs:label "deafness, autosomal dominant 43" ; IAO:0000142 PMID:12676899 ; RO:0002525 CHR:9606chr2p12 ; - oboInOwl:hasDbXref UMLS:C1842108 ; oboInOwl:hasExactSynonym "DFNA43", "deafness, autosomal dominant 43" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1842108 ; biolink:category biolink:Disease . OMIM:608410 a owl:Class ; @@ -433947,10 +450629,10 @@ OMIM:608410 a owl:Class ; PMID:16893906, PMID:18325908 ; RO:0002525 CHR:9606chr4p15-p14 ; - oboInOwl:hasDbXref UMLS:C2675358 ; oboInOwl:hasExactSynonym "BMIQ7", "body mass index quantitative trait locus 7", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C2675358 ; biolink:category biolink:Disease . OMIM:608423 a owl:Class ; @@ -433960,32 +450642,32 @@ OMIM:608423 a owl:Class ; PMID:23543484, PMID:23667635, PMID:30055862 ; - oboInOwl:hasDbXref UMLS:C1842062, - ORPHA:55595 ; oboInOwl:hasExactSynonym "LGMDD2", "muscular dystrophy, limb-girdle, iia 1f", "muscular dystrophy, limb-girdle, autosomal dominant 2" ; rdfs:subClassOf OMIMPS:603511 ; + skos:exactMatch UMLS:C1842062, + ORPHA:55595 ; biolink:category biolink:Disease . OMIM:608437 a owl:Class ; rdfs:label "systemic lupus erythematosus, susceptibility to, 4" ; IAO:0000142 PMID:14658095 ; RO:0002525 CHR:9606chr12q24 ; - oboInOwl:hasDbXref UMLS:C1842057 ; oboInOwl:hasExactSynonym "SLEB4", "systemic lupus erythematosus, susceptibility to, 4" ; + skos:exactMatch UMLS:C1842057 ; biolink:category biolink:Disease . OMIM:608443 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 3" ; IAO:0000142 PMID:14569116, PMID:16033914 ; - oboInOwl:hasDbXref UMLS:C1838023 ; oboInOwl:hasExactSynonym "MRT3", "intellectual developmental disorder, autosomal recessive 3", "mental retardation, autosomal recessive 3" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1838023 ; biolink:category biolink:Disease . OMIM:608445 a owl:Class ; @@ -433995,19 +450677,19 @@ OMIM:608445 a owl:Class ; PMID:11584043, PMID:14740317 ; RO:0002525 CHR:9606chr3p12-q13 ; - oboInOwl:hasDbXref UMLS:C4019167 ; oboInOwl:hasExactSynonym "speech-sound disorder", "ssd" ; + skos:exactMatch UMLS:C4019167 ; biolink:category biolink:Disease . OMIM:608447 a owl:Class ; rdfs:label "carotid intimal medial thickness 2" ; IAO:0000142 PMID:14730480 ; RO:0002525 CHR:9606chr12q24 ; - oboInOwl:hasDbXref UMLS:C1838020 ; oboInOwl:hasExactSynonym "carotid intimal medial thickness 2", "carotid intimal medial thickness quantitative trait locus on chromosome 12", "cimt2" ; + skos:exactMatch UMLS:C1838020 ; biolink:category biolink:Disease . OMIM:608448 a owl:Class ; @@ -434016,10 +450698,10 @@ OMIM:608448 a owl:Class ; PMID:12354785, PMID:8841195 ; RO:0002525 CHR:9606chr3p26 ; - oboInOwl:hasDbXref UMLS:C1838019 ; oboInOwl:hasExactSynonym "IBD9", "inflammatory bowel disease 9" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C1838019 ; biolink:category biolink:Disease . OMIM:608462 a owl:Class ; @@ -434027,10 +450709,10 @@ OMIM:608462 a owl:Class ; IAO:0000142 PMID:12355085, PMID:17965226 ; RO:0002525 CHR:9606chr16q23 ; - oboInOwl:hasDbXref UMLS:C1969482 ; oboInOwl:hasExactSynonym "HSCR8", "hirschsprung disease, susceptibility to, 8" ; rdfs:subClassOf OMIMPS:142623 ; + skos:exactMatch UMLS:C1969482 ; biolink:category biolink:Disease . OMIM:608471 a owl:Class ; @@ -434038,21 +450720,21 @@ OMIM:608471 a owl:Class ; IAO:0000142 PMID:15790870, PMID:2003794, PMID:9497262 ; - oboInOwl:hasDbXref UMLS:C1837974, - ORPHA:98964 ; oboInOwl:hasExactSynonym "CDL3A", "corneal dystrophy, lattice iia 3a", "lattice corneal dystrophy, iia 3a" ; + skos:exactMatch UMLS:C1837974, + ORPHA:98964 ; biolink:category biolink:Disease . OMIM:608474 a owl:Class ; rdfs:label "myopia 5, autosomal dominant" ; IAO:0000142 PMID:12714612 ; RO:0002525 CHR:9606chr17q21-q22 ; - oboInOwl:hasDbXref UMLS:C1837972 ; oboInOwl:hasExactSynonym "MYP5", "myopia 5, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1837972 ; biolink:category biolink:Disease . OMIM:608520 a owl:Class ; @@ -434062,10 +450744,10 @@ OMIM:608520 a owl:Class ; PMID:21521612 ; RO:0002525 CHR:9606chr12q22-q23.2 ; RO:0003303 OMIM:608516 ; - oboInOwl:hasDbXref UMLS:C1837929 ; oboInOwl:hasExactSynonym "major depressive disorder 1", "mdd1", "unipolar depression 1" ; + skos:exactMatch UMLS:C1837929 ; biolink:category biolink:Disease . OMIM:608526 a owl:Class ; @@ -434073,8 +450755,8 @@ OMIM:608526 a owl:Class ; IAO:0000142 PMID:14673644 ; RO:0002525 CHR:9606chr1q25 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1969478 ; oboInOwl:hasExactSynonym "periodontitis, aggressive, 2" ; + skos:exactMatch UMLS:C1969478 ; biolink:category biolink:Disease . OMIM:608540 a owl:Class ; @@ -434086,12 +450768,12 @@ OMIM:608540 a owl:Class ; PMID:27325525, PMID:28108845, PMID:9762608 ; - oboInOwl:hasDbXref UMLS:C2931005, - ORPHA:79327 ; oboInOwl:hasExactSynonym "CDG1K", "cdg ik", "congenital disorder of glycosylation, iia ik" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C2931005, + ORPHA:79327 ; biolink:category biolink:Disease . OMIM:608542 a owl:Class ; @@ -434100,10 +450782,10 @@ OMIM:608542 a owl:Class ; PMID:14872410 ; RO:0002525 CHR:9606chr19q13 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1837894 ; oboInOwl:hasExactSynonym "ANIB2", "aneurysm, intracranial berry, 2" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C1837894 ; biolink:category biolink:Disease . OMIM:608543 a owl:Class ; @@ -434111,10 +450793,10 @@ OMIM:608543 a owl:Class ; IAO:0000142 PMID:14750073 ; RO:0002525 CHR:9606chr1p36.2 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1837893 ; oboInOwl:hasExactSynonym "schizophrenia 12", "schizophrenia susceptibility locus, chromosome 1p-related", "sczd12" ; + skos:exactMatch UMLS:C1837893 ; biolink:category biolink:Disease . OMIM:608545 a owl:Class ; @@ -434122,9 +450804,9 @@ OMIM:608545 a owl:Class ; IAO:0000142 PMID:12784294, PMID:1916762 ; RO:0002525 CHR:9606chr6p25 ; - oboInOwl:hasDbXref UMLS:C1837884 ; oboInOwl:hasExactSynonym "larsen-like syndrome", "lrsl" ; + skos:exactMatch UMLS:C1837884 ; biolink:category biolink:Disease . OMIM:608557 a owl:Class ; @@ -434136,38 +450818,38 @@ OMIM:608557 a owl:Class ; PMID:17304054, PMID:18369664 ; RO:0002525 CHR:9606chr13q12 ; - oboInOwl:hasDbXref UMLS:C1837871 ; oboInOwl:hasExactSynonym "mci2", "myocardial infarction, susceptibility to, 2" ; + skos:exactMatch UMLS:C1837871 ; biolink:category biolink:Disease . OMIM:608558 a owl:Class ; rdfs:label "body mass index quantitative trait locus 5" ; IAO:0000142 PMID:12774034 ; RO:0002525 CHR:9606chr16p13 ; - oboInOwl:hasDbXref UMLS:C1837870 ; oboInOwl:hasExactSynonym "BMIQ5", "body mass index quantitative trait locus 5" ; + skos:exactMatch UMLS:C1837870 ; biolink:category biolink:Disease . OMIM:608559 a owl:Class ; rdfs:label "body mass index quantitative trait locus 6" ; IAO:0000142 PMID:12774034 ; RO:0002525 CHR:9606chr20pter-p11.2 ; - oboInOwl:hasDbXref UMLS:C1837869 ; oboInOwl:hasExactSynonym "BMIQ6", "body mass index quantitative trait locus 6" ; + skos:exactMatch UMLS:C1837869 ; biolink:category biolink:Disease . OMIM:608562 a owl:Class ; rdfs:label "polydactyly, postaxial, iia a4" ; IAO:0000142 PMID:12734547 ; RO:0002525 CHR:9606chr7q22 ; - oboInOwl:hasDbXref UMLS:C1837868 ; oboInOwl:hasExactSynonym "papa4", "polydactyly, postaxial, iia a4", "postaxial polydactyly, iia a4" ; rdfs:subClassOf OMIMPS:174200 ; + skos:exactMatch UMLS:C1837868 ; biolink:category biolink:Disease . OMIM:608565 a owl:Class ; @@ -434176,20 +450858,21 @@ OMIM:608565 a owl:Class ; PMID:16703383, PMID:18179891, PMID:26805784 ; - oboInOwl:hasDbXref UMLS:C1837857 ; oboInOwl:hasExactSynonym "DFNB35", "deafness, autosomal recessive 35" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1837857 ; biolink:category biolink:Disease . OMIM:608580 a owl:Class ; rdfs:label "myosin, heavy chain 16, skeletal muscle, pseudogene" ; IAO:0000142 PMID:11919279, PMID:15042088 ; - oboInOwl:hasDbXref UMLS:C3888012 ; oboInOwl:hasExactSynonym "MYH16", "myosin, heavy chain 16, skeletal muscle, pseudogene" ; - skos:exactMatch HGNC_symbol:MYH16 . + skos:exactMatch UMLS:C3888012, + HGNC:31038, + HGNC_symbol:MYH16 . OMIM:608583 a owl:Class ; rdfs:label "atrial fibrillation, familial, 1" ; @@ -434200,11 +450883,11 @@ OMIM:608583 a owl:Class ; PMID:9070470 ; RO:0002525 CHR:9606chr10q22-q24 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C1843687 ; oboInOwl:hasExactSynonym "ATFB1", "atrial fibrillation, autosomal dominant", "atrial fibrillation, familial, 1" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C1843687 ; biolink:category biolink:Disease . OMIM:608584 a owl:Class ; @@ -434216,19 +450899,19 @@ OMIM:608584 a owl:Class ; PMID:18285428, PMID:18305139, PMID:9563721 ; - oboInOwl:hasDbXref UMLS:C1837811 ; oboInOwl:hasExactSynonym "asrt2", "asthma-related traits, susceptibility to, 2" ; + skos:exactMatch UMLS:C1837811 ; biolink:category biolink:Disease . OMIM:608586 a owl:Class ; rdfs:label "keratoconus 3" ; IAO:0000142 PMID:14985379 ; RO:0002525 CHR:9606chr3p14-q13 ; - oboInOwl:hasDbXref UMLS:C1837809 ; oboInOwl:hasExactSynonym "KTCN3", "keratoconus 3" ; rdfs:subClassOf OMIMPS:148300 ; + skos:exactMatch UMLS:C1837809 ; biolink:category biolink:Disease . OMIM:608594 a owl:Class ; @@ -434263,13 +450946,13 @@ OMIM:608594 a owl:Class ; PMID:8783771, PMID:9196367, PMID:9784493 ; - oboInOwl:hasDbXref UMLS:C1720862 ; oboInOwl:hasExactSynonym "CGL1", "berardinelli-seip congenital lipodystrophy, iia 1", "brunzell syndrome, agpat2-related", "lipodystrophy, berardinelli-seip congenital, iia 1", "lipodystrophy, congenital generalized, iia 1" ; rdfs:subClassOf OMIMPS:608594 ; + skos:exactMatch UMLS:C1720862 ; biolink:category biolink:Disease . OMIM:608607 a owl:Class ; @@ -434277,14 +450960,15 @@ OMIM:608607 a owl:Class ; IAO:0000142 PMID:10574462, PMID:11948409, PMID:16079250 ; - oboInOwl:hasDbXref UMLS:C1825682 ; oboInOwl:hasExactSynonym "NBPF12", "chromosome 1 amplified sequence 1", "kiaa1245", "neuroblastoma breakpoint family, member 12" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:149013 ; - skos:exactMatch HGNC_symbol:NBPF12 ; + skos:exactMatch UMLS:C1825682, + HGNC:24297, + HGNC_symbol:NBPF12 ; biolink:category biolink:Gene . OMIM:608611 a owl:Class ; @@ -434293,9 +450977,9 @@ OMIM:608611 a owl:Class ; PMID:14988808, PMID:20499043, PMID:31056085 ; - oboInOwl:hasDbXref UMLS:C1291609 ; oboInOwl:hasExactSynonym "RPIAD", "ribose 5-phosphate isomerase deficiency" ; + skos:exactMatch UMLS:C1291609 ; biolink:category biolink:Disease . OMIM:608615 a owl:Class ; @@ -434303,17 +450987,17 @@ OMIM:608615 a owl:Class ; IAO:0000142 PMID:15042511, PMID:21416598, PMID:21626677 ; - oboInOwl:hasDbXref UMLS:C1837750 ; oboInOwl:hasExactSynonym "ODCRCS", "oligodontia-colorectal cancer syndrome", "tooth agenesis-colorectal cancer syndrome" ; + skos:exactMatch UMLS:C1837750 ; biolink:category biolink:Disease . OMIM:608622 a owl:Class ; rdfs:label "hypertension, diastolic, resistance to" ; IAO:0000142 PMID:15057310 ; - oboInOwl:hasDbXref UMLS:C1837739 ; oboInOwl:hasExactSynonym "hypertension, diastolic, resistance to" ; + skos:exactMatch UMLS:C1837739 ; biolink:category biolink:Disease . OMIM:608629 a owl:Class ; @@ -434328,10 +451012,10 @@ OMIM:608629 a owl:Class ; PMID:21937992, PMID:25616960, PMID:576733 ; - oboInOwl:hasDbXref UMLS:C1837713 ; oboInOwl:hasExactSynonym "JBTS3", "joubert syndrome 3" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C1837713 ; biolink:category biolink:Disease . OMIM:608631 a owl:Class ; @@ -434339,10 +451023,10 @@ OMIM:608631 a owl:Class ; IAO:0000142 PMID:11708390, PMID:7778603 ; RO:0002525 CHR:9606chr17p13 ; - oboInOwl:hasDbXref UMLS:C1837697 ; oboInOwl:hasExactSynonym "ASPG2", "asperger syndrome, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:608638 ; + skos:exactMatch UMLS:C1837697 ; biolink:category biolink:Disease . OMIM:608634 a owl:Class ; @@ -434350,11 +451034,11 @@ OMIM:608634 a owl:Class ; IAO:0000142 PMID:15122254, PMID:18832141, PMID:21785432 ; - oboInOwl:hasDbXref UMLS:C2608087 ; oboInOwl:hasExactSynonym "HMN2B", "hmn 2b", "neuronopathy, distal hereditary motor, iia 2b", "neuropathy, distal hereditary motor, iia 2b" ; + skos:exactMatch UMLS:C2608087 ; biolink:category biolink:Disease . OMIM:608638 a owl:Class ; @@ -434364,10 +451048,10 @@ OMIM:608638 a owl:Class ; PMID:12192642, PMID:9614468 ; RO:0002525 CHR:9606chr3q25-q27 ; - oboInOwl:hasDbXref UMLS:C1837646 ; oboInOwl:hasExactSynonym "ASPG1", "asperger syndrome, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:608638 ; + skos:exactMatch UMLS:C1837646 ; biolink:category biolink:Disease . OMIM:608643 a owl:Class ; @@ -434389,13 +451073,13 @@ OMIM:608643 a owl:Class ; PMID:33744095, PMID:9309516, PMID:9686366 ; - oboInOwl:hasDbXref UMLS:C1291564, - ORPHA:35708 ; oboInOwl:hasExactSynonym "AADCD", "aadc deficiency", "aromatic l-amino acid decarboxylase deficiency", "ddc deficiency", "dopa decarboxylase deficiency" ; + skos:exactMatch UMLS:C1291564, + ORPHA:35708 ; biolink:category biolink:Disease . OMIM:608645 a owl:Class ; @@ -434403,10 +451087,10 @@ OMIM:608645 a owl:Class ; IAO:0000142 PMID:11559344, PMID:14729819 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C1837617 ; oboInOwl:hasExactSynonym "DFNA31", "deafness, autosomal dominant 31" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1837617 ; biolink:category biolink:Disease . OMIM:608646 a owl:Class ; @@ -434414,11 +451098,11 @@ OMIM:608646 a owl:Class ; IAO:0000142 PMID:14985390 ; RO:0002525 CHR:9606chr15q13.1-q15.1 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C1837616 ; oboInOwl:hasExactSynonym "CILD4", "ciliary dyskinesia, primary, 4", "ciliary dyskinesia, primary, 4, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C1837616 ; biolink:category biolink:Disease . OMIM:608647 a owl:Class ; @@ -434427,11 +451111,11 @@ OMIM:608647 a owl:Class ; PMID:23022101, PMID:23849777, PMID:9387968 ; - oboInOwl:hasDbXref UMLS:C1837615 ; oboInOwl:hasExactSynonym "CILD5", "ciliary dyskinesia, primary, 5", "ciliary dyskinesia, primary, 5, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C1837615 ; biolink:category biolink:Disease . OMIM:608649 a owl:Class ; @@ -434440,10 +451124,10 @@ OMIM:608649 a owl:Class ; PMID:16946994, PMID:19631310, PMID:9115920 ; - oboInOwl:hasDbXref UMLS:C1837610 ; oboInOwl:hasExactSynonym "IPS", "ichthyosis congenita 4", "ichthyosis prematurity syndrome" ; + skos:exactMatch UMLS:C1837610 ; biolink:category biolink:Disease . OMIM:608652 a owl:Class ; @@ -434451,10 +451135,10 @@ OMIM:608652 a owl:Class ; IAO:0000142 PMID:12634859, PMID:19888295 ; RO:0002525 CHR:9606chr9p22-p21 ; - oboInOwl:hasDbXref UMLS:C1837609 ; oboInOwl:hasExactSynonym "DFNA47", "deafness, autosomal dominant 47" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1837609 ; biolink:category biolink:Disease . OMIM:608654 a owl:Class ; @@ -434468,12 +451152,12 @@ OMIM:608654 a owl:Class ; PMID:3472625, PMID:6189547, PMID:77656 ; - oboInOwl:hasDbXref UMLS:C0020075 ; oboInOwl:hasExactSynonym "HSAN5", "hsan 5", "insensitivity to pain, congenital", "neuropathy, hereditary sensory and autonomic, iia 5" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C0020075 ; biolink:category biolink:Disease . OMIM:608656 a owl:Class ; @@ -434482,9 +451166,9 @@ OMIM:608656 a owl:Class ; PMID:11179028, PMID:11409871 ; RO:0002525 CHR:9606chr20q13 ; - oboInOwl:hasDbXref UMLS:C1837595 ; oboInOwl:hasExactSynonym "hpc3", "prostate cancer, hereditary, 3" ; + skos:exactMatch UMLS:C1837595 ; biolink:category biolink:Disease . OMIM:608658 a owl:Class ; @@ -434492,10 +451176,10 @@ OMIM:608658 a owl:Class ; IAO:0000142 PMID:14769943, PMID:18264097 ; RO:0002525 CHR:9606chr7p11-q21 ; - oboInOwl:hasDbXref UMLS:C1837593 ; oboInOwl:hasExactSynonym "hpc4", "prostate cancer, hereditary, 4", "prostate cancer, hereditary, on chromosome 7" ; + skos:exactMatch UMLS:C1837593 ; biolink:category biolink:Disease . OMIM:608681 a owl:Class ; @@ -434503,10 +451187,10 @@ OMIM:608681 a owl:Class ; IAO:0000142 PMID:15122512, PMID:15214000, PMID:18485326 ; - oboInOwl:hasDbXref UMLS:C1837549 ; oboInOwl:hasExactSynonym "SCDO2", "spondylocostal dysostosis 2, autosomal recessive" ; rdfs:subClassOf OMIMPS:277300 ; + skos:exactMatch UMLS:C1837549 ; biolink:category biolink:Disease . OMIM:608688 a owl:Class ; @@ -434515,11 +451199,11 @@ OMIM:608688 a owl:Class ; PMID:15114530, PMID:22180458, PMID:32557644 ; - oboInOwl:hasDbXref UMLS:C1837530, - ORPHA:250977 ; oboInOwl:hasExactSynonym "aica-ribosuria due to atic deficiency", "aicar transformylase/imp cyclohydrolase deficiency", "atic deficiency" ; + skos:exactMatch UMLS:C1837530, + ORPHA:250977 ; biolink:category biolink:Disease . OMIM:608691 a owl:Class ; @@ -434527,10 +451211,10 @@ OMIM:608691 a owl:Class ; IAO:0000142 PMID:15108123 ; RO:0002525 CHR:9606chr15q25.3-q26.2 ; RO:0003303 OMIM:608516 ; - oboInOwl:hasDbXref UMLS:C1837529 ; oboInOwl:hasExactSynonym "major depressive disorder 2", "mdd2", "unipolar depression 2" ; + skos:exactMatch UMLS:C1837529 ; biolink:category biolink:Disease . OMIM:608695 a owl:Class ; @@ -434538,30 +451222,30 @@ OMIM:608695 a owl:Class ; IAO:0000142 PMID:15108121 ; RO:0002525 CHR:9606chr9q22 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1837528 ; oboInOwl:hasExactSynonym "GLC1J", "glaucoma 1, open angle, j", "glaucoma, primary open angle, juvenile-onset, 2" ; + skos:exactMatch UMLS:C1837528 ; biolink:category biolink:Disease . OMIM:608696 a owl:Class ; rdfs:label "glaucoma 1, open angle, k" ; IAO:0000142 PMID:15108121 ; RO:0002525 CHR:9606chr20p12 ; - oboInOwl:hasDbXref UMLS:C1837527 ; oboInOwl:hasExactSynonym "GLC1K", "glaucoma 1, open angle, k", "glaucoma, primary open angle, juvenile-onset, 3" ; + skos:exactMatch UMLS:C1837527 ; biolink:category biolink:Disease . OMIM:608703 a owl:Class ; rdfs:label "spinocerebellar ataxia 25" ; IAO:0000142 PMID:14705117 ; RO:0002525 CHR:9606chr2p21-p13 ; - oboInOwl:hasDbXref UMLS:C1837518 ; oboInOwl:hasExactSynonym "SCA25", "spinocerebellar ataxia 25" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1837518 ; biolink:category biolink:Disease . OMIM:608709 a owl:Class ; @@ -434578,13 +451262,13 @@ OMIM:608709 a owl:Class ; PMID:5854037, PMID:6986570, PMID:8987057 ; - oboInOwl:hasDbXref UMLS:C3887501 ; oboInOwl:hasExactSynonym "APLD", "apld, susceptibility to", "barraquer-simons syndrome", "lipodystrophy, cephalothoracic iia", "lipodystrophy, partial, acquired, susceptibility to", "lipodystrophy, partial, progressive" ; + skos:exactMatch UMLS:C3887501 ; biolink:category biolink:Disease . OMIM:608710 a owl:Class ; @@ -434593,10 +451277,10 @@ OMIM:608710 a owl:Class ; PMID:21374588, PMID:22808956 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C3495801 ; oboInOwl:hasExactSynonym "GPA", "granulomatosis with polyangiitis", "wegener granulomatosis, formerly" ; + skos:exactMatch UMLS:C3495801 ; biolink:category biolink:Disease . OMIM:608716 a owl:Class ; @@ -434620,10 +451304,10 @@ OMIM:608716 a owl:Class ; PMID:22775483, PMID:27250695, PMID:6745946 ; - oboInOwl:hasDbXref UMLS:C1837501 ; oboInOwl:hasExactSynonym "MCPH5", "microcephaly 5, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C1837501 ; biolink:category biolink:Disease . OMIM:608742 a owl:Class ; @@ -434631,9 +451315,9 @@ OMIM:608742 a owl:Class ; IAO:0000142 PMID:12761042 ; RO:0002525 CHR:9606chr12p12.2-p12.1 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1837479 ; oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 4", "hyt4" ; + skos:exactMatch UMLS:C1837479 ; biolink:category biolink:Disease . OMIM:608747 a owl:Class ; @@ -434645,10 +451329,10 @@ OMIM:608747 a owl:Class ; PMID:2394448, PMID:7024810, PMID:8857020 ; - oboInOwl:hasDbXref UMLS:C1837475 ; oboInOwl:hasExactSynonym "growth retardation with sensorineural deafness and mental retardation", "igf1 deficiency", "insulin-like growth factor 1 deficiency" ; + skos:exactMatch UMLS:C1837475 ; biolink:category biolink:Disease . OMIM:608751 a owl:Class ; @@ -434657,22 +451341,22 @@ OMIM:608751 a owl:Class ; PMID:16267253, PMID:6211078, PMID:8673105 ; - oboInOwl:hasDbXref UMLS:C1837471 ; oboInOwl:hasExactSynonym "CMH8", "cardiomyopathy, familial hypertrophic, 8", "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C1837471 ; biolink:category biolink:Disease . OMIM:608762 a owl:Class ; rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 3" ; IAO:0000142 PMID:15101829 ; RO:0002525 CHR:9606chr9q32-q33 ; - oboInOwl:hasDbXref UMLS:C1837468 ; oboInOwl:hasExactSynonym "EIG3", "epilepsy, idiopathic generalized, susceptibility to, 3", "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9" ; rdfs:subClassOf OMIMPS:600669 ; + skos:exactMatch UMLS:C1837468 ; biolink:category biolink:Disease . OMIM:608768 a owl:Class ; @@ -434685,10 +451369,10 @@ OMIM:608768 a owl:Class ; PMID:18418692, PMID:19680539, PMID:20373340 ; - oboInOwl:hasDbXref UMLS:C1837454 ; oboInOwl:hasExactSynonym "SCA8", "spinocerebellar ataxia 8" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1837454 ; biolink:category biolink:Disease . OMIM:608779 a owl:Class ; @@ -434698,11 +451382,11 @@ OMIM:608779 a owl:Class ; PMID:17356545, PMID:17395513, PMID:19577670 ; - oboInOwl:hasDbXref UMLS:C2931010 ; oboInOwl:hasExactSynonym "CDG2E", "cdg iie", "congenital disorder of glycosylation, iia iie" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C2931010 ; biolink:category biolink:Disease . OMIM:608781 a owl:Class ; @@ -434710,10 +451394,10 @@ OMIM:608781 a owl:Class ; IAO:0000142 PMID:11708390, PMID:14966474 ; RO:0002525 CHR:9606chr1q21-q22 ; - oboInOwl:hasDbXref UMLS:C1837434 ; oboInOwl:hasExactSynonym "ASPG3", "asperger syndrome, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:608638 ; + skos:exactMatch UMLS:C1837434 ; biolink:category biolink:Disease . OMIM:608782 a owl:Class ; @@ -434726,33 +451410,33 @@ OMIM:608782 a owl:Class ; PMID:2839811, PMID:31392110, PMID:7200213 ; - oboInOwl:hasDbXref UMLS:C1837429, - ORPHA:765, - ORPHA:79246 ; oboInOwl:hasExactSynonym "PDHPD", "lactic acidemia with pyruvate dehydrogenase phosphatase deficiency", "pyruvate dehydrogenase phosphatase deficiency" ; rdfs:subClassOf OMIMPS:312170 ; + skos:exactMatch UMLS:C1837429, + ORPHA:765, + ORPHA:79246 ; biolink:category biolink:Disease . OMIM:608787 a owl:Class ; rdfs:label "otosclerosis 5" ; IAO:0000142 PMID:15173231 ; RO:0002525 CHR:9606chr3q22-q24 ; - oboInOwl:hasDbXref UMLS:C1837422 ; oboInOwl:hasExactSynonym "OTSC5", "otosclerosis 5" ; rdfs:subClassOf OMIMPS:166800 ; + skos:exactMatch UMLS:C1837422 ; biolink:category biolink:Disease . OMIM:608796 a owl:Class ; rdfs:label "moyamoya disease 3" ; IAO:0000142 PMID:15362573 ; RO:0002525 CHR:9606chr8q23 ; - oboInOwl:hasDbXref UMLS:C1837418 ; oboInOwl:hasExactSynonym "MYMY3", "moyamoya disease 3" ; rdfs:subClassOf OMIMPS:252350 ; + skos:exactMatch UMLS:C1837418 ; biolink:category biolink:Disease . OMIM:608799 a owl:Class ; @@ -434762,19 +451446,19 @@ OMIM:608799 a owl:Class ; PMID:15669674, PMID:16641202, PMID:23856421 ; - oboInOwl:hasDbXref UMLS:C1837396 ; oboInOwl:hasExactSynonym "CDG1E", "cdg ie", "congenital disorder of glycosylation, iia ie" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C1837396 ; biolink:category biolink:Disease . OMIM:608800 a owl:Class ; rdfs:label "sudden infant death with dysgenesis of the testes syndrome" ; IAO:0000142 PMID:15273283 ; - oboInOwl:hasDbXref UMLS:C1837371 ; oboInOwl:hasExactSynonym "SIDDT", "sudden infant death with dysgenesis of the testes syndrome" ; + skos:exactMatch UMLS:C1837371 ; biolink:category biolink:Disease . OMIM:608812 a owl:Class ; @@ -434783,11 +451467,11 @@ OMIM:608812 a owl:Class ; PMID:16467217, PMID:18703712, PMID:19617566 ; - oboInOwl:hasDbXref UMLS:C1837315 ; oboInOwl:hasExactSynonym "CRCS1", "colorectal adenoma and cancer, susceptibility to", "colorectal cancer, susceptibility to, 1", "colorectal cancer, susceptibility to, on chromosome 9" ; + skos:exactMatch UMLS:C1837315 ; biolink:category biolink:Disease . OMIM:608816 a owl:Class ; @@ -434802,10 +451486,10 @@ OMIM:608816 a owl:Class ; PMID:7654068, PMID:9305351 ; RO:0002525 CHR:9606chr6p21 ; - oboInOwl:hasDbXref UMLS:C1837308 ; oboInOwl:hasExactSynonym "EJM3", "myoclonic epilepsy, juvenile, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:254770 ; + skos:exactMatch UMLS:C1837308 ; biolink:category biolink:Disease . OMIM:608831 a owl:Class ; @@ -434813,10 +451497,10 @@ OMIM:608831 a owl:Class ; IAO:0000142 PMID:12764067, PMID:15174026 ; RO:0002525 CHR:9606chr14q13-q21 ; - oboInOwl:hasDbXref UMLS:C1837285 ; oboInOwl:hasExactSynonym "RLS2", "restless legs syndrome, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:102300 ; + skos:exactMatch UMLS:C1837285 ; biolink:category biolink:Disease . OMIM:608833 a owl:Class ; @@ -434835,7 +451519,6 @@ OMIM:608833 a owl:Class ; PMID:9671732 ; RO:0002525 CHR:9606chr20q13.33 ; RO:0003303 OMIM:616373 ; - oboInOwl:hasDbXref UMLS:C1539711 ; oboInOwl:hasExactSynonym "RTEL1", "chromosome 20 open reading frame 41", "kiaa1088", @@ -434845,7 +451528,9 @@ OMIM:608833 a owl:Class ; "telomere length regulator" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:51750 ; - skos:exactMatch HGNC_symbol:RTEL1 ; + skos:exactMatch UMLS:C1539711, + HGNC:15888, + HGNC_symbol:RTEL1 ; biolink:category biolink:Gene . OMIM:608840 a owl:Class ; @@ -434854,14 +451539,14 @@ OMIM:608840 a owl:Class ; PMID:19067344, PMID:19299310, PMID:21248746 ; - oboInOwl:hasDbXref UMLS:C1837229, - ORPHA:370968, - ORPHA:98894 ; oboInOwl:hasExactSynonym "MDDGB6", "muscular dystrophy, congenital, iia 1d", "muscular dystrophy, congenital, large-related", "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6" ; rdfs:subClassOf OMIMPS:613155 ; + skos:exactMatch UMLS:C1837229, + ORPHA:370968, + ORPHA:98894 ; biolink:category biolink:Disease . OMIM:608850 a owl:Class ; @@ -434873,9 +451558,9 @@ OMIM:608850 a owl:Class ; PMID:28790370 ; RO:0002525 CHR:9606chr5p15.33-p13.1 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C3888009 ; oboInOwl:hasExactSynonym "MCDR3", "macular dystrophy, retinal, 3" ; + skos:exactMatch UMLS:C3888009 ; biolink:category biolink:Disease . OMIM:608852 a owl:Class ; @@ -434886,10 +451571,10 @@ OMIM:608852 a owl:Class ; PMID:19521721, PMID:9055062 ; RO:0002525 CHR:9606chr6q21-q22 ; - oboInOwl:hasDbXref UMLS:C3160731 ; oboInOwl:hasExactSynonym "lung function, smoking-related accelerated rate of decline 1n", "plf", "pulmonary function" ; + skos:exactMatch UMLS:C3160731 ; biolink:category biolink:Disease . OMIM:608864 a owl:Class ; @@ -434902,37 +451587,36 @@ OMIM:608864 a owl:Class ; PMID:17702008, PMID:18836445, PMID:20799332 ; - oboInOwl:hasDbXref UMLS:C1837213, - ORPHA:199306 ; oboInOwl:hasExactSynonym "OFC6", "cleft 51p with or without cleft palate, nonsyndromic, 6", "orofacial cleft 6, susceptibility to" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1837213, + ORPHA:199306 ; biolink:category biolink:Disease . OMIM:608875 a owl:Class ; rdfs:label "gene expression, variation in, quantitative trait locus on chromosome 14" ; IAO:0000142 PMID:15269782 ; RO:0002525 CHR:9606chr14q32 ; - oboInOwl:hasDbXref UMLS:C1837209 ; oboInOwl:hasExactSynonym "gene expression, variation in, quantitative trait locus on chromosome 14", "gevq1" ; + skos:exactMatch UMLS:C1837209 ; biolink:category biolink:Disease . OMIM:608878 a owl:Class ; rdfs:label "gene expression, variation in, quantitative trait locus on chromosome 20" ; IAO:0000142 PMID:15269782 ; RO:0002525 CHR:9606chr20q13 ; - oboInOwl:hasDbXref UMLS:C1837208 ; oboInOwl:hasExactSynonym "gene expression, variation in, quantitative trait locus on chromosome 20", "gevq2" ; + skos:exactMatch UMLS:C1837208 ; biolink:category biolink:Disease . OMIM:608881 a owl:Class ; rdfs:label "MICAL2" ; IAO:0000142 PMID:12110185, PMID:9872452 ; - oboInOwl:hasDbXref UMLS:C1537695 ; oboInOwl:hasExactSynonym "MICAL2", "erk2-binding testicular protein 1", "flavoprotein oxidoreductase mical2", @@ -434941,7 +451625,9 @@ OMIM:608881 a owl:Class ; "microtubule-associated monooxygenase, calponin and 51m domains-containing, 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:9645 ; - skos:exactMatch HGNC_symbol:MICAL2 ; + skos:exactMatch UMLS:C1537695, + HGNC:24693, + HGNC_symbol:MICAL2 ; biolink:category biolink:Gene . OMIM:608890 a owl:Class ; @@ -434949,10 +451635,10 @@ OMIM:608890 a owl:Class ; IAO:0000142 PMID:12149208, PMID:12444107, PMID:9279758 ; - oboInOwl:hasDbXref UMLS:C1837203 ; oboInOwl:hasExactSynonym "WS2D", "waardenburg syndrome, iia 2d" ; rdfs:subClassOf OMIMPS:193500 ; + skos:exactMatch UMLS:C1837203 ; biolink:category biolink:Disease . OMIM:608895 a owl:Class ; @@ -434961,11 +451647,11 @@ OMIM:608895 a owl:Class ; PMID:17109857, PMID:21576112, PMID:23328402 ; - oboInOwl:hasDbXref UMLS:C1837187, - UMLS:C4225406 ; oboInOwl:hasExactSynonym "ARMD3", "macular degeneration, age-related, 3" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C1837187, + UMLS:C4225406 ; biolink:category biolink:Disease . OMIM:608898 a owl:Class ; @@ -434975,13 +451661,13 @@ OMIM:608898 a owl:Class ; PMID:16825436, PMID:17993578, PMID:32374962 ; - oboInOwl:hasDbXref UMLS:C1837174, - ORPHA:540 ; oboInOwl:hasExactSynonym "FHL3", "hemophagocytic lymphohistiocytosis, familial, 3", "hlh3", "hplh3" ; rdfs:subClassOf OMIMPS:267700 ; + skos:exactMatch UMLS:C1837174, + ORPHA:540 ; biolink:category biolink:Disease . OMIM:608902 a owl:Class ; @@ -435027,13 +451713,6 @@ OMIM:608902 a owl:Class ; PMID:9012401, PMID:9357098, PMID:9562213 ; - oboInOwl:hasDbXref UMLS:C1837154, - UMLS:C1837155, - UMLS:C1837156, - UMLS:C1837157, - UMLS:C1837158, - UMLS:C1837159, - UMLS:C1837160 ; oboInOwl:hasExactSynonym "codeine, ultrarapid metabolism of", "debrisoquine, poor metabolism of", "debrisoquine, ultrarapid metabolism of", @@ -435041,6 +451720,13 @@ OMIM:608902 a owl:Class ; "drug metabolism, ultrarapid, cyp2d6-related", "nortriptyline, poor metabolism of", "sparteine, poor metabolism of" ; + skos:exactMatch UMLS:C1837154, + UMLS:C1837155, + UMLS:C1837156, + UMLS:C1837157, + UMLS:C1837158, + UMLS:C1837159, + UMLS:C1837160 ; biolink:category biolink:Disease . OMIM:608903 a owl:Class ; @@ -435048,9 +451734,9 @@ OMIM:608903 a owl:Class ; IAO:0000142 PMID:12187510 ; RO:0002525 CHR:9606chr16p13 ; RO:0003303 OMIM:143465 ; - oboInOwl:hasDbXref UMLS:C1837153 ; oboInOwl:hasExactSynonym "adhd1", "attention deficit-hyperactivity disorder, susceptibility to, 1" ; + skos:exactMatch UMLS:C1837153 ; biolink:category biolink:Disease . OMIM:608904 a owl:Class ; @@ -435060,9 +451746,9 @@ OMIM:608904 a owl:Class ; PMID:21499268 ; RO:0002525 CHR:9606chr17p11 ; RO:0003303 OMIM:143465 ; - oboInOwl:hasDbXref UMLS:C1837152 ; oboInOwl:hasExactSynonym "adhd2", "attention deficit-hyperactivity disorder, susceptibility to, 2" ; + skos:exactMatch UMLS:C1837152 ; biolink:category biolink:Disease . OMIM:608905 a owl:Class ; @@ -435070,9 +451756,9 @@ OMIM:608905 a owl:Class ; IAO:0000142 PMID:15297934 ; RO:0002525 CHR:9606chr6q12 ; RO:0003303 OMIM:143465 ; - oboInOwl:hasDbXref UMLS:C1837151 ; oboInOwl:hasExactSynonym "adhd3", "attention deficit-hyperactivity disorder, susceptibility to, 3" ; + skos:exactMatch UMLS:C1837151 ; biolink:category biolink:Disease . OMIM:608906 a owl:Class ; @@ -435080,9 +451766,9 @@ OMIM:608906 a owl:Class ; IAO:0000142 PMID:15297934 ; RO:0002525 CHR:9606chr5p13 ; RO:0003303 OMIM:143465 ; - oboInOwl:hasDbXref UMLS:C1837150 ; oboInOwl:hasExactSynonym "adhd4", "attention deficit-hyperactivity disorder, susceptibility to, 4" ; + skos:exactMatch UMLS:C1837150 ; biolink:category biolink:Disease . OMIM:608907 a owl:Class ; @@ -435096,11 +451782,11 @@ OMIM:608907 a owl:Class ; PMID:26141617, PMID:27037229, PMID:27037232 ; - oboInOwl:hasDbXref UMLS:C1837149, - UMLS:C4282179 ; oboInOwl:hasExactSynonym "AD9", "alzheimer disease 9, late-onset", "alzheimer disease 9, susceptibility to" ; + skos:exactMatch UMLS:C1837149, + UMLS:C4282179 ; biolink:category biolink:Disease . OMIM:608908 a owl:Class ; @@ -435109,10 +451795,10 @@ OMIM:608908 a owl:Class ; PMID:17210856, PMID:23643385, PMID:9021311 ; - oboInOwl:hasDbXref UMLS:C1837148 ; oboInOwl:hasExactSynonym "MYP6", "myopia 6" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1837148 ; biolink:category biolink:Disease . OMIM:608930 a owl:Class ; @@ -435124,10 +451810,10 @@ OMIM:608930 a owl:Class ; PMID:18806275, PMID:25792100, PMID:7254233 ; - oboInOwl:hasDbXref UMLS:C4225405 ; oboInOwl:hasExactSynonym "CMS1B", "myasthenic syndrome, congenital, 1b, fast-channel" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225405 ; biolink:category biolink:Disease . OMIM:608932 a owl:Class ; @@ -435135,10 +451821,10 @@ OMIM:608932 a owl:Class ; IAO:0000142 PMID:12356819, PMID:3019073 ; RO:0002525 CHR:9606chr16q22.3-q23.1 ; - oboInOwl:hasDbXref UMLS:C1837090 ; oboInOwl:hasExactSynonym "KTCN2", "keratoconus 2" ; rdfs:subClassOf OMIMPS:148300 ; + skos:exactMatch UMLS:C1837090 ; biolink:category biolink:Disease . OMIM:608935 a owl:Class ; @@ -435148,9 +451834,9 @@ OMIM:608935 a owl:Class ; PMID:19946270, PMID:806230 ; RO:0002525 CHR:9606chr6q23-q25 ; - oboInOwl:hasDbXref UMLS:C1837089 ; oboInOwl:hasExactSynonym "LNCR1", "lung cancer susceptibility 1" ; + skos:exactMatch UMLS:C1837089 ; biolink:category biolink:Disease . OMIM:608940 a owl:Class ; @@ -435160,16 +451846,16 @@ OMIM:608940 a owl:Class ; PMID:21412974, PMID:24387990, PMID:24387991 ; - oboInOwl:hasDbXref UMLS:C1837073 ; oboInOwl:hasExactSynonym "SMDCRD", "spondylometaphyseal dysplasia with cone-rod dystrophy" ; + skos:exactMatch UMLS:C1837073 ; biolink:category biolink:Disease . OMIM:608957 a owl:Class ; rdfs:label "cd8 deficiency, familial" ; IAO:0000142 PMID:11435463 ; - oboInOwl:hasDbXref UMLS:C1837065 ; oboInOwl:hasExactSynonym "cd8 deficiency, familial" ; + skos:exactMatch UMLS:C1837065 ; biolink:category biolink:Disease . OMIM:608970 a owl:Class ; @@ -435180,11 +451866,11 @@ OMIM:608970 a owl:Class ; PMID:5442145 ; RO:0002525 CHR:9606chr5q21.3-q33.2 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1837029 ; oboInOwl:hasExactSynonym "MDPT2", "macular dystrophy, butterfly-shaped pigmentary, 2", "macular dystrophy, patterned, 2" ; rdfs:subClassOf OMIMPS:169150 ; + skos:exactMatch UMLS:C1837029 ; biolink:category biolink:Disease . OMIM:608971 a owl:Class ; @@ -435194,9 +451880,9 @@ OMIM:608971 a owl:Class ; PMID:22689986, PMID:9068311, PMID:9843216 ; - oboInOwl:hasDbXref UMLS:C1837028 ; oboInOwl:hasExactSynonym "scid, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive", "severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-positive" ; + skos:exactMatch UMLS:C1837028 ; biolink:category biolink:Disease . OMIM:608982 a owl:Class ; @@ -435205,9 +451891,9 @@ OMIM:608982 a owl:Class ; PMID:11753821, PMID:17180680 ; RO:0002525 CHR:9606chr3p26 ; - oboInOwl:hasDbXref UMLS:C1837024 ; oboInOwl:hasExactSynonym "STQTL5", "stature quantitative trait locus 5" ; + skos:exactMatch UMLS:C1837024 ; biolink:category biolink:Disease . OMIM:608988 a owl:Class ; @@ -435216,10 +451902,10 @@ OMIM:608988 a owl:Class ; PMID:9070470 ; RO:0002525 CHR:9606chr6q14-q16 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1837812 ; oboInOwl:hasExactSynonym "ATFB2", "atrial fibrillation, familial, 2" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C1837812 ; biolink:category biolink:Disease . OMIM:608995 a owl:Class ; @@ -435229,19 +451915,19 @@ OMIM:608995 a owl:Class ; PMID:17886254, PMID:8101276 ; RO:0002525 CHR:9606chr1p36-p34 ; - oboInOwl:hasDbXref UMLS:C1837009 ; oboInOwl:hasExactSynonym "DYX8", "dyslexia, susceptibility to, 8" ; + skos:exactMatch UMLS:C1837009 ; biolink:category biolink:Disease . OMIM:608996 a owl:Class ; rdfs:label "premature ovarian failure 3" ; IAO:0000142 PMID:12149404, PMID:19429596 ; - oboInOwl:hasDbXref UMLS:C1837008 ; oboInOwl:hasExactSynonym "POF3", "premature ovarian failure 3" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C1837008 ; biolink:category biolink:Disease . OMIM:609006 a owl:Class ; @@ -435249,12 +451935,12 @@ OMIM:609006 a owl:Class ; IAO:0000142 PMID:15286153, PMID:15930085, PMID:18973245 ; - oboInOwl:hasDbXref UMLS:C1837007, - UMLS:C3149566 ; oboInOwl:hasExactSynonym "DFNB36", "deafness, autosomal dominant, without vestibular involvement", "deafness, autosomal recessive 36, with or without vestibular involvement" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1837007, + UMLS:C3149566 ; biolink:category biolink:Disease . OMIM:609026 a owl:Class ; @@ -435263,11 +451949,11 @@ OMIM:609026 a owl:Class ; PMID:15629823, PMID:17386279 ; RO:0002525 CHR:9606chr6p12-q12 ; - oboInOwl:hasDbXref UMLS:C1836942 ; oboInOwl:hasExactSynonym "CTRCT28", "cataract 28", "cataract, age-related cortical, 1" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1836942 ; biolink:category biolink:Disease . OMIM:609027 a owl:Class ; @@ -435277,10 +451963,10 @@ OMIM:609027 a owl:Class ; PMID:4842708, PMID:7508860, PMID:8636151 ; - oboInOwl:hasDbXref UMLS:C1292298 ; oboInOwl:hasExactSynonym "IN", "blood group, indian system", "indian blood group system" ; + skos:exactMatch UMLS:C1292298 ; biolink:category biolink:Disease . OMIM:609033 a owl:Class ; @@ -435292,20 +451978,20 @@ OMIM:609033 a owl:Class ; PMID:9409377, PMID:9855554, PMID:9921862 ; - oboInOwl:hasDbXref UMLS:C1836916 ; oboInOwl:hasExactSynonym "AXPC1", "pcarp", "posterior column ataxia with retinitis pigmentosa" ; + skos:exactMatch UMLS:C1836916 ; biolink:category biolink:Disease . OMIM:609039 a owl:Class ; rdfs:label "narcolepsy 3" ; IAO:0000142 PMID:15349865 ; RO:0002525 CHR:9606chr21q11.2 ; - oboInOwl:hasDbXref UMLS:C1836907 ; oboInOwl:hasExactSynonym "NRCLP3", "narcolepsy 3" ; rdfs:subClassOf OMIMPS:161400 ; + skos:exactMatch UMLS:C1836907 ; biolink:category biolink:Disease . OMIM:609040 a owl:Class ; @@ -435316,22 +452002,22 @@ OMIM:609040 a owl:Class ; PMID:16549640, PMID:23354045, PMID:8142187 ; - oboInOwl:hasDbXref UMLS:C1836906, - ORPHA:217656 ; oboInOwl:hasExactSynonym "ARVD9", "arrhythmogenic right ventricular cardiomyopathy 9", "arrhythmogenic right ventricular dysplasia, familial, 9" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1836906, + ORPHA:217656 ; biolink:category biolink:Disease . OMIM:609041 a owl:Class ; rdfs:label "spastic paraplegia 27, autosomal recessive" ; IAO:0000142 PMID:15455396 ; RO:0002525 CHR:9606chr10q22.1-q24.1 ; - oboInOwl:hasDbXref UMLS:C1836899 ; oboInOwl:hasExactSynonym "SPG27", "spastic paraplegia 27, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1836899 ; biolink:category biolink:Disease . OMIM:609048 a owl:Class ; @@ -435341,10 +452027,10 @@ OMIM:609048 a owl:Class ; PMID:7652577, PMID:8528263, PMID:9425228 ; - oboInOwl:hasDbXref UMLS:C1836892 ; oboInOwl:hasExactSynonym "CMM3", "melanoma, cutaneous malignant, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:155600 ; + skos:exactMatch UMLS:C1836892 ; biolink:category biolink:Disease . OMIM:609049 a owl:Class ; @@ -435363,11 +452049,11 @@ OMIM:609049 a owl:Class ; PMID:6851264, PMID:7670489, PMID:7885444 ; - oboInOwl:hasDbXref UMLS:C1836876, - ORPHA:2670 ; oboInOwl:hasExactSynonym "PIERS", "microcoria-congenital nephrotic syndrome", "pierson syndrome" ; + skos:exactMatch UMLS:C1836876, + ORPHA:2670 ; biolink:category biolink:Disease . OMIM:609053 a owl:Class ; @@ -435378,10 +452064,10 @@ OMIM:609053 a owl:Class ; PMID:17460694, PMID:21568838, PMID:26590883 ; - oboInOwl:hasDbXref UMLS:C1836861 ; oboInOwl:hasExactSynonym "FANCI", "fanconi anemia, complementation group 1" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C1836861 ; biolink:category biolink:Disease . OMIM:609055 a owl:Class ; @@ -435390,10 +452076,10 @@ OMIM:609055 a owl:Class ; PMID:15965709, PMID:16303764, PMID:23160995 ; - oboInOwl:hasDbXref UMLS:C1836841 ; oboInOwl:hasExactSynonym "CLN9", "ceroid lipofuscinosis, neuronal, 9" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C1836841 ; biolink:category biolink:Disease . OMIM:609056 a owl:Class ; @@ -435406,14 +452092,14 @@ OMIM:609056 a owl:Class ; PMID:27232954, PMID:30691927, PMID:4213132 ; - oboInOwl:hasDbXref UMLS:C1836824, - ORPHA:370933 ; oboInOwl:hasExactSynonym "SPDRS", "amish infantile epilepsy syndrome", "epilepsy syndrome, infantile-onset symptomatic", "gm3 synthase deficiency", "salt and pepper developmental regression syndrome", "salt and pepper mental retardation syndrome" ; + skos:exactMatch UMLS:C1836824, + ORPHA:370933 ; biolink:category biolink:Disease . OMIM:609060 a owl:Class ; @@ -435421,12 +452107,12 @@ OMIM:609060 a owl:Class ; IAO:0000142 PMID:15537906, PMID:17160893, PMID:21119709 ; - oboInOwl:hasDbXref UMLS:C1836797, - ORPHA:137681 ; oboInOwl:hasExactSynonym "COXPD1", "combined oxidative phosphorylation deficiency 1", "hepatoencephalopathy, early fatal progressive" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C1836797, + ORPHA:137681 ; biolink:category biolink:Disease . OMIM:609069 a owl:Class ; @@ -435435,11 +452121,11 @@ OMIM:609069 a owl:Class ; PMID:15543146, PMID:19650412, PMID:21749365 ; - oboInOwl:hasDbXref UMLS:C1836780, - ORPHA:65288 ; oboInOwl:hasExactSynonym "PACA", "diabetes mellitus, permanent neonatal, with cerebellar agenesis", "pancreatic and cerebellar agenesis" ; + skos:exactMatch UMLS:C1836780, + ORPHA:65288 ; biolink:category biolink:Disease . OMIM:609070 a owl:Class ; @@ -435451,10 +452137,10 @@ OMIM:609070 a owl:Class ; PMID:25043035, PMID:25129147, PMID:26073780 ; - oboInOwl:hasDbXref UMLS:C1836778 ; oboInOwl:hasExactSynonym "HALAH", "hemoglobin, high altitude adaptation", "hemoglobin, high oxygen saturation of" ; + skos:exactMatch UMLS:C1836778 ; biolink:category biolink:Disease . OMIM:609113 a owl:Class ; @@ -435476,10 +452162,10 @@ OMIM:609113 a owl:Class ; PMID:7977349, PMID:9671732 ; RO:0002525 CHR:9606chr14q23.2 ; - oboInOwl:hasDbXref UMLS:C1836777 ; oboInOwl:hasExactSynonym "LTL", "telm", "telomere length, mean leukocyte" ; + skos:exactMatch UMLS:C1836777 ; biolink:category biolink:Disease . OMIM:609115 a owl:Class ; @@ -435487,11 +452173,11 @@ OMIM:609115 a owl:Class ; IAO:0000142 PMID:15367920, PMID:24647604, PMID:30055862 ; - oboInOwl:hasDbXref UMLS:C1836765 ; oboInOwl:hasExactSynonym "LGMDD3", "muscular dystrophy, limb-girdle, iia 1g", "muscular dystrophy, limb-girdle, autosomal dominant 3" ; rdfs:subClassOf OMIMPS:603511 ; + skos:exactMatch UMLS:C1836765 ; biolink:category biolink:Disease . OMIM:609116 a owl:Class ; @@ -435499,9 +452185,9 @@ OMIM:609116 a owl:Class ; IAO:0000142 PMID:12598679, PMID:15558495 ; RO:0002525 CHR:9606chr10q26 ; - oboInOwl:hasDbXref UMLS:C1836764 ; oboInOwl:hasExactSynonym "respiratory rhythmicity 1n sleep", "rris" ; + skos:exactMatch UMLS:C1836764 ; biolink:category biolink:Disease . OMIM:609128 a owl:Class ; @@ -435511,12 +452197,12 @@ OMIM:609128 a owl:Class ; PMID:7039311, PMID:7069745, PMID:8923935 ; - oboInOwl:hasDbXref UMLS:C1836756 ; oboInOwl:hasExactSynonym "DA4", "arthrogryposis with severe scoliosis", "arthrogryposis, distal, iia 2d", "arthrogryposis, distal, iia 4" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C1836756 ; biolink:category biolink:Disease . OMIM:609129 a owl:Class ; @@ -435526,11 +452212,11 @@ OMIM:609129 a owl:Class ; PMID:20624953, PMID:223494, PMID:7191495 ; - oboInOwl:hasDbXref UMLS:C1836743 ; oboInOwl:hasExactSynonym "AUNA1", "auditory neuropathy, autosomal dominant 1", "auditory neuropathy, nonsyndromic dominant" ; rdfs:subClassOf OMIMPS:609129 ; + skos:exactMatch UMLS:C1836743 ; biolink:category biolink:Disease . OMIM:609135 a owl:Class ; @@ -435540,20 +452226,20 @@ OMIM:609135 a owl:Class ; PMID:15338273, PMID:17311987, PMID:17478638 ; - oboInOwl:hasDbXref UMLS:C0002874, - UMLS:C2684859 ; oboInOwl:hasExactSynonym "aplastic anemia", "aplastic anemia, susceptibility to" ; + skos:exactMatch UMLS:C0002874, + UMLS:C2684859 ; biolink:category biolink:Disease . OMIM:609140 a owl:Class ; rdfs:label "corneal dystrophy, posterior polymorphous, 2" ; IAO:0000142 PMID:11689488, PMID:15914606 ; - oboInOwl:hasDbXref UMLS:C1852795 ; oboInOwl:hasExactSynonym "PPCD2", "corneal dystrophy, posterior polymorphous, 2" ; rdfs:subClassOf OMIMPS:122000 ; + skos:exactMatch UMLS:C1852795 ; biolink:category biolink:Disease . OMIM:609141 a owl:Class ; @@ -435562,10 +452248,10 @@ OMIM:609141 a owl:Class ; PMID:15384081, PMID:16252232, PMID:17437275 ; - oboInOwl:hasDbXref UMLS:C1836724 ; oboInOwl:hasExactSynonym "PPCD3", "corneal dystrophy, posterior polymorphous, 3" ; rdfs:subClassOf OMIMPS:122000 ; + skos:exactMatch UMLS:C1836724 ; biolink:category biolink:Disease . OMIM:609148 a owl:Class ; @@ -435573,9 +452259,9 @@ OMIM:609148 a owl:Class ; IAO:0000142 PMID:12566384, PMID:17208487, PMID:9240049 ; - oboInOwl:hasDbXref UMLS:C1836721 ; oboInOwl:hasExactSynonym "malaria, mild, susceptibility to", "mals" ; + skos:exactMatch UMLS:C1836721 ; biolink:category biolink:Disease . OMIM:609161 a owl:Class ; @@ -435584,31 +452270,31 @@ OMIM:609161 a owl:Class ; PMID:20085714, PMID:26475694, PMID:26769607 ; - oboInOwl:hasDbXref UMLS:C4310808 ; oboInOwl:hasExactSynonym "ADSD1", "striatal degeneration, autosomal dominant 1" ; rdfs:subClassOf OMIMPS:609161 ; + skos:exactMatch UMLS:C4310808 ; biolink:category biolink:Disease . OMIM:609179 a owl:Class ; rdfs:label "migraine with aura, susceptibility to, 7" ; IAO:0000142 PMID:15586324 ; RO:0002525 CHR:9606chr15q11.2-q12 ; - oboInOwl:hasDbXref UMLS:C1836670 ; oboInOwl:hasExactSynonym "mgr7", "migraine with aura, susceptibility to, 7" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C1836670 ; biolink:category biolink:Disease . OMIM:609180 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia if" ; IAO:0000142 PMID:11733556, PMID:11733564 ; - oboInOwl:hasDbXref UMLS:C1836669 ; oboInOwl:hasExactSynonym "CDG1F", "cdg if", "congenital disorder of glycosylation, iia if" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C1836669 ; biolink:category biolink:Disease . OMIM:609192 a owl:Class ; @@ -435629,8 +452315,6 @@ OMIM:609192 a owl:Class ; PMID:8287183, PMID:8723076, PMID:9605294 ; - oboInOwl:hasDbXref UMLS:C2674127, - UMLS:C4551955 ; oboInOwl:hasExactSynonym "LDS1", "aortic aneurysm, familial thoracic 5", "furlong syndrome", @@ -435638,6 +452322,8 @@ OMIM:609192 a owl:Class ; "loeys-dietz syndrome 1" ; rdfs:subClassOf OMIMPS:607086, OMIMPS:609192 ; + skos:exactMatch UMLS:C2674127, + UMLS:C4551955 ; biolink:category biolink:Disease . OMIM:609195 a owl:Class ; @@ -435645,22 +452331,22 @@ OMIM:609195 a owl:Class ; IAO:0000142 PMID:15635080, PMID:23746551, PMID:7864052 ; - oboInOwl:hasDbXref UMLS:C1836632 ; oboInOwl:hasExactSynonym "SPG26", "spastic paraplegia 26, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1836632 ; biolink:category biolink:Disease . OMIM:609197 a owl:Class ; rdfs:label "glucocorticoid deficiency 3" ; IAO:0000142 PMID:12384787 ; RO:0002525 CHR:9606chr8q11.2-q13.2 ; - oboInOwl:hasDbXref UMLS:C1836621 ; oboInOwl:hasExactSynonym "GCCD3", "familial glucocorticoid deficiency 3", "glucocorticoid deficiency 2, formerly", "glucocorticoid deficiency 3" ; rdfs:subClassOf OMIMPS:202200 ; + skos:exactMatch UMLS:C1836621 ; biolink:category biolink:Disease . OMIM:609200 a owl:Class ; @@ -435678,7 +452364,6 @@ OMIM:609200 a owl:Class ; PMID:9529338, PMID:9598725, PMID:9828127 ; - oboInOwl:hasDbXref UMLS:C3714934 ; oboInOwl:hasExactSynonym "MFM3", "muscular dystrophy, limb-girdle, iia 1, formerly", "muscular dystrophy, limb-girdle, iia 1a, formerly", @@ -435686,6 +452371,7 @@ OMIM:609200 a owl:Class ; "myopathy, myofibrillar, myotilin-related", "myotilinopathy" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C3714934 ; biolink:category biolink:Disease . OMIM:609218 a owl:Class ; @@ -435696,12 +452382,12 @@ OMIM:609218 a owl:Class ; PMID:24045842, PMID:24194637, PMID:24290379 ; - oboInOwl:hasDbXref UMLS:C3807873 ; oboInOwl:hasExactSynonym "FVH2", "foveal hypoplasia 2", "foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism", "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" ; rdfs:subClassOf OMIMPS:136520 ; + skos:exactMatch UMLS:C3807873 ; biolink:category biolink:Disease . OMIM:609220 a owl:Class ; @@ -435710,20 +452396,20 @@ OMIM:609220 a owl:Class ; PMID:15523624, PMID:22689593, PMID:9927692 ; - oboInOwl:hasDbXref UMLS:C1836602 ; oboInOwl:hasExactSynonym "BRKS2", "bruck syndrome 2", "osteogenesis imperfecta with congenital joint contractures" ; + skos:exactMatch UMLS:C1836602 ; biolink:category biolink:Disease . OMIM:609227 a owl:Class ; rdfs:label "griscelli syndrome, iia 3" ; IAO:0000142 PMID:12148598, PMID:12897212 ; - oboInOwl:hasDbXref UMLS:C1836573 ; oboInOwl:hasExactSynonym "GS3", "griscelli syndrome, iia 3" ; rdfs:subClassOf OMIMPS:214450 ; + skos:exactMatch UMLS:C1836573 ; biolink:category biolink:Disease . OMIM:609241 a owl:Class ; @@ -435736,8 +452422,6 @@ OMIM:609241 a owl:Class ; PMID:8071745, PMID:8523030, PMID:8782044 ; - oboInOwl:hasDbXref UMLS:C1836544, - UMLS:C1836545 ; oboInOwl:hasExactSynonym "alpha-n-acetylgalactosaminidase deficiency, iia 1", "alpha-n-acetylgalactosaminidase deficiency, iia 3", "naga deficiency, iia 1", @@ -435745,6 +452429,8 @@ OMIM:609241 a owl:Class ; "neuroaxonal dystrophy, schindler iia", "schindler disease, iia 1", "schindler disease, iia 3" ; + skos:exactMatch UMLS:C1836544, + UMLS:C1836545 ; biolink:category biolink:Disease . OMIM:609253 a owl:Class ; @@ -435752,11 +452438,11 @@ OMIM:609253 a owl:Class ; IAO:0000142 PMID:15557493 ; RO:0002525 CHR:9606chr18p11.2 ; RO:0003303 OMIM:6 ; - oboInOwl:hasDbXref UMLS:C1836518 ; oboInOwl:hasExactSynonym "FEB6", "convulsions, familial febrile, 6", "febrile seizures, familial, 6" ; rdfs:subClassOf OMIMPS:121210 ; + skos:exactMatch UMLS:C1836518 ; biolink:category biolink:Disease . OMIM:609254 a owl:Class ; @@ -435765,10 +452451,10 @@ OMIM:609254 a owl:Class ; PMID:20881296, PMID:21220633, PMID:21901789 ; - oboInOwl:hasDbXref UMLS:C1836517 ; oboInOwl:hasExactSynonym "SLSN5", "senior-loken syndrome 5" ; rdfs:subClassOf OMIMPS:266900 ; + skos:exactMatch UMLS:C1836517 ; biolink:category biolink:Disease . OMIM:609255 a owl:Class ; @@ -435776,51 +452462,51 @@ OMIM:609255 a owl:Class ; IAO:0000142 PMID:12429594 ; RO:0002525 CHR:9606chr6q22-q24 ; RO:0003303 OMIM:5 ; - oboInOwl:hasDbXref UMLS:C1836507 ; oboInOwl:hasExactSynonym "FEB5", "convulsions, familial febrile, 5", "febrile seizures, familial, 5" ; rdfs:subClassOf OMIMPS:121210 ; + skos:exactMatch UMLS:C1836507 ; biolink:category biolink:Disease . OMIM:609256 a owl:Class ; rdfs:label "myopia 7" ; IAO:0000142 PMID:15307048 ; RO:0002525 CHR:9606chr11p13 ; - oboInOwl:hasDbXref UMLS:C1836506 ; oboInOwl:hasExactSynonym "MYP7", "myopia 7" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1836506 ; biolink:category biolink:Disease . OMIM:609257 a owl:Class ; rdfs:label "myopia 8" ; IAO:0000142 PMID:15307048 ; RO:0002525 CHR:9606chr3q26 ; - oboInOwl:hasDbXref UMLS:C1836505 ; oboInOwl:hasExactSynonym "MYP8", "myopia 8" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1836505 ; biolink:category biolink:Disease . OMIM:609258 a owl:Class ; rdfs:label "myopia 9" ; IAO:0000142 PMID:15307048 ; RO:0002525 CHR:9606chr4q12 ; - oboInOwl:hasDbXref UMLS:C1836504 ; oboInOwl:hasExactSynonym "MYP9", "myopia 9" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1836504 ; biolink:category biolink:Disease . OMIM:609259 a owl:Class ; rdfs:label "myopia 10" ; IAO:0000142 PMID:15307048 ; RO:0002525 CHR:9606chr8p23 ; - oboInOwl:hasDbXref UMLS:C1836503 ; oboInOwl:hasExactSynonym "MYP10", "myopia 10" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1836503 ; biolink:category biolink:Disease . OMIM:609261 a owl:Class ; @@ -435831,10 +452517,10 @@ OMIM:609261 a owl:Class ; PMID:27151663 ; RO:0002525 CHR:9606chr12q24.1 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1836484 ; oboInOwl:hasExactSynonym "STUT2", "stuttering, familial persistent, 2" ; rdfs:subClassOf OMIMPS:184450 ; + skos:exactMatch UMLS:C1836484 ; biolink:category biolink:Disease . OMIM:609270 a owl:Class ; @@ -435842,20 +452528,20 @@ OMIM:609270 a owl:Class ; IAO:0000142 PMID:15520412, PMID:23418007, PMID:26224725 ; - oboInOwl:hasDbXref UMLS:C1836474 ; oboInOwl:hasExactSynonym "SCAR7", "spinocerebellar ataxia, autosomal recessive 7" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C1836474 ; biolink:category biolink:Disease . OMIM:609271 a owl:Class ; rdfs:label "keratoconus 4" ; IAO:0000142 PMID:15635082 ; RO:0002525 CHR:9606chr2p24 ; - oboInOwl:hasDbXref UMLS:C1836473 ; oboInOwl:hasExactSynonym "KTCN4", "keratoconus 4" ; rdfs:subClassOf OMIMPS:148300 ; + skos:exactMatch UMLS:C1836473 ; biolink:category biolink:Disease . OMIM:609273 a owl:Class ; @@ -435864,11 +452550,11 @@ OMIM:609273 a owl:Class ; PMID:12805120, PMID:21104864, PMID:21109227 ; - oboInOwl:hasDbXref UMLS:C1836472, - ORPHA:171439 ; oboInOwl:hasExactSynonym "NEM6", "nemaline myopathy 6" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C1836472, + ORPHA:171439 ; biolink:category biolink:Disease . OMIM:609283 a owl:Class ; @@ -435882,12 +452568,12 @@ OMIM:609283 a owl:Class ; PMID:15351195, PMID:8644740, PMID:9207786 ; - oboInOwl:hasDbXref UMLS:C1836460, - ORPHA:254892 ; oboInOwl:hasExactSynonym "PEOA2", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2", "progressive external ophthalmoplegia, autosomal dominant 2" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C1836460, + ORPHA:254892 ; biolink:category biolink:Disease . OMIM:609284 a owl:Class ; @@ -435906,15 +452592,15 @@ OMIM:609284 a owl:Class ; PMID:24095155, PMID:26418456, PMID:7704029 ; - oboInOwl:hasDbXref UMLS:C1836448, - UMLS:C3714994, - ORPHA:171433, - ORPHA:171439, - ORPHA:171881 ; oboInOwl:hasExactSynonym "NEM1", "cap myopathy 1", "nemaline myopathy 1" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C1836448, + UMLS:C3714994, + ORPHA:171433, + ORPHA:171439, + ORPHA:171881 ; biolink:category biolink:Disease . OMIM:609285 a owl:Class ; @@ -435927,12 +452613,12 @@ OMIM:609285 a owl:Class ; PMID:23378224, PMID:23413262, PMID:7196531 ; - oboInOwl:hasDbXref UMLS:C1836447, - UMLS:C3807907 ; oboInOwl:hasExactSynonym "NEM4", "cap myopathy 2", "nemaline myopathy 4" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C1836447, + UMLS:C3807907 ; biolink:category biolink:Disease . OMIM:609286 a owl:Class ; @@ -435950,12 +452636,12 @@ OMIM:609286 a owl:Class ; PMID:20479361, PMID:7719341, PMID:9153451 ; - oboInOwl:hasDbXref UMLS:C1836439, - ORPHA:254892 ; oboInOwl:hasExactSynonym "PEOA3", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3", "progressive external ophthalmoplegia, autosomal dominant 3" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C1836439, + ORPHA:254892 ; biolink:category biolink:Disease . OMIM:609289 a owl:Class ; @@ -435967,10 +452653,10 @@ OMIM:609289 a owl:Class ; PMID:23589636, PMID:9800748 ; RO:0002525 CHR:9606chr15q26 ; - oboInOwl:hasDbXref UMLS:C1836438 ; oboInOwl:hasExactSynonym "VVS", "syncope, familial neurocardiogenic", "syncope, familial vasovagal" ; + skos:exactMatch UMLS:C1836438 ; biolink:category biolink:Disease . OMIM:609296 a owl:Class ; @@ -435979,20 +452665,20 @@ OMIM:609296 a owl:Class ; PMID:11476068, PMID:15521984, PMID:21204224 ; - oboInOwl:hasDbXref UMLS:C1836437 ; oboInOwl:hasExactSynonym "BILU", "b-cell immunodeficiency, distal limb anomalies, and urogenital malformations", "bilu syndrome", "hoffman syndrome" ; + skos:exactMatch UMLS:C1836437 ; biolink:category biolink:Disease . OMIM:609299 a owl:Class ; rdfs:label "prostate cancer, hereditary, 5" ; IAO:0000142 PMID:15549392 ; RO:0002525 CHR:9606chr3p26 ; - oboInOwl:hasDbXref UMLS:C1836436 ; oboInOwl:hasExactSynonym "HPC5", "prostate cancer, hereditary, 5" ; + skos:exactMatch UMLS:C1836436 ; biolink:category biolink:Disease . OMIM:609304 a owl:Class ; @@ -436000,23 +452686,23 @@ OMIM:609304 a owl:Class ; IAO:0000142 PMID:15592994, PMID:19780765, PMID:24596948 ; - oboInOwl:hasDbXref UMLS:C0270855, - ORPHA:1934, - ORPHA:1935 ; oboInOwl:hasExactSynonym "DEE3", "developmental and epileptic encephalopathy 3", "epileptic encephalopathy, early infantile, 3" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C0270855, + ORPHA:1934, + ORPHA:1935 ; biolink:category biolink:Disease . OMIM:609306 a owl:Class ; rdfs:label "spinocerebellar ataxia 26" ; IAO:0000142 PMID:15732118, PMID:23001565 ; - oboInOwl:hasDbXref UMLS:C1836395 ; oboInOwl:hasExactSynonym "SCA26", "spinocerebellar ataxia 26" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1836395 ; biolink:category biolink:Disease . OMIM:609307 a owl:Class ; @@ -436026,11 +452712,11 @@ OMIM:609307 a owl:Class ; PMID:15470364, PMID:19471976, PMID:30017992 ; - oboInOwl:hasDbXref UMLS:C1836383 ; oboInOwl:hasExactSynonym "SCA27", "cerebellar ataxia, autosomal dominant, fgf14-related", "spinocerebellar ataxia 27" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1836383 ; biolink:category biolink:Disease . OMIM:609308 a owl:Class ; @@ -436040,14 +452726,14 @@ OMIM:609308 a owl:Class ; PMID:17878207, PMID:20065251, PMID:22549409 ; - oboInOwl:hasDbXref UMLS:C1836373, - ORPHA:86812 ; oboInOwl:hasExactSynonym "MDDGC1", "muscular dystrophy, limb-girdle, iia 2k", "muscular dystrophy, limb-girdle, autosomal recessive 11", "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 1" ; rdfs:subClassOf OMIMPS:253600, OMIMPS:609308 ; + skos:exactMatch UMLS:C1836373, + ORPHA:86812 ; biolink:category biolink:Disease . OMIM:609311 a owl:Class ; @@ -436057,13 +452743,13 @@ OMIM:609311 a owl:Class ; PMID:17564972, PMID:19221294, PMID:19332693 ; - oboInOwl:hasDbXref UMLS:C1836336 ; oboInOwl:hasExactSynonym "CMT4H", "charcot-marie-tooth disease, iia 4h", "charcot-marie-tooth disease, autosomal recessive, iia 4h", "charcot-marie-tooth disease, demyelinating, autosomal recessive, iia 4h", "charcot-marie-tooth neuropathy, iia 4h" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1836336 ; biolink:category biolink:Disease . OMIM:609313 a owl:Class ; @@ -436073,12 +452759,12 @@ OMIM:609313 a owl:Class ; PMID:23423674, PMID:30244301, PMID:4342731 ; - oboInOwl:hasDbXref UMLS:C1836330, - ORPHA:171851 ; oboInOwl:hasExactSynonym "MEDNIK", "erythrokeratodermia variabilis 3", "erythrokeratodermia variabilis, kamouraska iia", "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" ; + skos:exactMatch UMLS:C1836330, + ORPHA:171851 ; biolink:category biolink:Disease . OMIM:609319 a owl:Class ; @@ -436087,30 +452773,30 @@ OMIM:609319 a owl:Class ; PMID:16950815, PMID:23222517 ; RO:0002525 CHR:9606chr6q23 ; - oboInOwl:hasDbXref UMLS:C1969258 ; oboInOwl:hasExactSynonym "HCHGQ1", "hematocrit/hemoglobin quantitative trait locus 1", "hematocrit/hemoglobin quantitative trait locus on chromosome 6" ; + skos:exactMatch UMLS:C1969258 ; biolink:category biolink:Disease . OMIM:609320 a owl:Class ; rdfs:label "hematocrit/hemoglobin quantitative trait locus 2" ; IAO:0000142 PMID:23222517 ; RO:0002525 CHR:9606chr9q ; - oboInOwl:hasDbXref UMLS:C1969257 ; oboInOwl:hasExactSynonym "HCHGQ2", "hematocrit/hemoglobin quantitative trait locus 2", "hematocrit/hemoglobin quantitative trait locus on chromosome 9" ; + skos:exactMatch UMLS:C1969257 ; biolink:category biolink:Disease . OMIM:609340 a owl:Class ; rdfs:label "spastic paraplegia 28, autosomal recessive" ; IAO:0000142 PMID:15786464, PMID:23176821 ; - oboInOwl:hasDbXref UMLS:C1836295 ; oboInOwl:hasExactSynonym "SPG28", "spastic paraplegia 28, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1836295 ; biolink:category biolink:Disease . OMIM:609354 a owl:Class ; @@ -436118,20 +452804,20 @@ OMIM:609354 a owl:Class ; IAO:0000142 PMID:15466007, PMID:9781060 ; RO:0002525 CHR:9606chr11q23 ; - oboInOwl:hasDbXref UMLS:C1836276 ; oboInOwl:hasExactSynonym "BMND5", "bone mineral density quantitative trait locus 5" ; + skos:exactMatch UMLS:C1836276 ; biolink:category biolink:Disease . OMIM:609376 a owl:Class ; rdfs:label "cataract 35" ; IAO:0000142 PMID:15671291 ; RO:0002525 CHR:9606chr19q13 ; - oboInOwl:hasDbXref UMLS:C1836272 ; oboInOwl:hasExactSynonym "CTRCT35", "cataract 35", "cataract, congenital nuclear, autosomal recessive 1" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1836272 ; biolink:category biolink:Disease . OMIM:609378 a owl:Class ; @@ -436158,21 +452844,21 @@ OMIM:609378 a owl:Class ; PMID:9152989, PMID:9361027 ; RO:0002525 CHR:9606chr17q11 ; - oboInOwl:hasDbXref UMLS:C1836271 ; oboInOwl:hasExactSynonym "AUTS6", "autism, susceptibility to, 6" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1836271 ; biolink:category biolink:Disease . OMIM:609400 a owl:Class ; rdfs:label "autoimmune disease, susceptibility to, 4" ; IAO:0000142 PMID:15809929 ; RO:0002525 CHR:9606chr4q13-q21 ; - oboInOwl:hasDbXref UMLS:C1836258 ; oboInOwl:hasExactSynonym "AIS4", "autoimmune disease susceptibility locus, chromosome 4-related", "autoimmune disease, susceptibility to, 4", "vitiligo-associated multiple autoimmune disease susceptibility 5" ; + skos:exactMatch UMLS:C1836258 ; biolink:category biolink:Disease . OMIM:609402 a owl:Class ; @@ -436180,20 +452866,20 @@ OMIM:609402 a owl:Class ; IAO:0000142 PMID:10441346, PMID:12474145 ; RO:0002525 CHR:9606chr2p25 ; - oboInOwl:hasDbXref UMLS:C1836257 ; oboInOwl:hasExactSynonym "PEE2", "preeclampsia/eclampsia 2" ; rdfs:subClassOf OMIMPS:189800 ; + skos:exactMatch UMLS:C1836257 ; biolink:category biolink:Disease . OMIM:609403 a owl:Class ; rdfs:label "preeclampsia/eclampsia 3" ; IAO:0000142 PMID:12474145 ; RO:0002525 CHR:9606chr9p13 ; - oboInOwl:hasDbXref UMLS:C1836256 ; oboInOwl:hasExactSynonym "PEE3", "preeclampsia/eclampsia 3" ; rdfs:subClassOf OMIMPS:189800 ; + skos:exactMatch UMLS:C1836256 ; biolink:category biolink:Disease . OMIM:609404 a owl:Class ; @@ -436202,20 +452888,20 @@ OMIM:609404 a owl:Class ; PMID:15208369, PMID:15806103, PMID:17290274 ; - oboInOwl:hasDbXref UMLS:C1836255 ; oboInOwl:hasExactSynonym "PEE4", "preeclampsia/eclampsia 4" ; rdfs:subClassOf OMIMPS:189800 ; + skos:exactMatch UMLS:C1836255 ; biolink:category biolink:Disease . OMIM:609408 a owl:Class ; rdfs:label "holoprosencephaly 8" ; IAO:0000142 PMID:15820313 ; RO:0002525 CHR:9606chr14q13 ; - oboInOwl:hasDbXref UMLS:C1836254 ; oboInOwl:hasExactSynonym "HPE8", "holoprosencephaly 8" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C1836254 ; biolink:category biolink:Disease . OMIM:609416 a owl:Class ; @@ -436233,7 +452919,6 @@ OMIM:609416 a owl:Class ; PMID:19633662, PMID:20215348, PMID:23042294 ; - oboInOwl:hasDbXref UMLS:C1537713 ; oboInOwl:hasExactSynonym "MIR17", "micro RNA 17", "micro RNA 17*", @@ -436246,19 +452931,21 @@ OMIM:609416 a owl:Class ; "mirna91" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:406952 ; - skos:exactMatch HGNC_symbol:MIR17 ; + skos:exactMatch UMLS:C1537713, + HGNC:31547, + HGNC_symbol:MIR17 ; biolink:category biolink:Gene . OMIM:609428 a owl:Class ; rdfs:label "tukel syndrome" ; IAO:0000142 PMID:15863670 ; RO:0002525 CHR:9606chr21q22 ; - oboInOwl:hasDbXref UMLS:C1836217 ; oboInOwl:hasExactSynonym "cfeom-u", "fibrosis of extraocular muscles, congenital, 4", "fibrosis of extraocular muscles, congenital, with ulnar hand anomalies", "tukel syndrome" ; rdfs:subClassOf OMIMPS:135700 ; + skos:exactMatch UMLS:C1836217 ; biolink:category biolink:Disease . OMIM:609432 a owl:Class ; @@ -436267,21 +452954,21 @@ OMIM:609432 a owl:Class ; PMID:15779011, PMID:25466284, PMID:9783716 ; - oboInOwl:hasDbXref UMLS:C1836206 ; oboInOwl:hasExactSynonym "MSSD", "syndactyly, iia 9", "syndactyly, malik-percin iia", "syndactyly, mesoaxial synostotic, with phalangeal reduction" ; + skos:exactMatch UMLS:C1836206 ; biolink:category biolink:Disease . OMIM:609452 a owl:Class ; rdfs:label "myopathy, myofibrillar, 4" ; IAO:0000142 PMID:15668942 ; - oboInOwl:hasDbXref UMLS:C4721886, - ORPHA:98912 ; oboInOwl:hasExactSynonym "MFM4", "myopathy, myofibrillar, 4" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C4721886, + ORPHA:98912 ; biolink:category biolink:Disease . OMIM:609454 a owl:Class ; @@ -436293,9 +452980,9 @@ OMIM:609454 a owl:Class ; PMID:7496773 ; RO:0002525 CHR:9606chr1q31.1 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1836148 ; oboInOwl:hasExactSynonym "PSNP2", "supranuclear palsy, progressive, 2" ; + skos:exactMatch UMLS:C1836148 ; biolink:category biolink:Disease . OMIM:609456 a owl:Class ; @@ -436305,8 +452992,8 @@ OMIM:609456 a owl:Class ; PMID:15886997, PMID:9731527 ; RO:0002525 CHR:9606chr4p16.3 ; - oboInOwl:hasDbXref UMLS:C1836133 ; oboInOwl:hasExactSynonym "muscular dystrophy, congenital, merosin-positive" ; + skos:exactMatch UMLS:C1836133 ; biolink:category biolink:Disease . OMIM:609460 a owl:Class ; @@ -436321,10 +453008,10 @@ OMIM:609460 a owl:Class ; PMID:24072599, PMID:3172144, PMID:7338549 ; - oboInOwl:hasDbXref UMLS:C1836123 ; oboInOwl:hasExactSynonym "GOSHS", "goldberg-shprintzen megacolon syndrome", "goldberg-shprintzen syndrome" ; + skos:exactMatch UMLS:C1836123 ; biolink:category biolink:Disease . OMIM:609467 a owl:Class ; @@ -436332,23 +453019,24 @@ OMIM:609467 a owl:Class ; IAO:0000142 PMID:1296815, PMID:2271120, PMID:8097094 ; - oboInOwl:hasDbXref UMLS:C1419877 ; oboInOwl:hasExactSynonym "CCL3P1", "chemokine, cc motif, ligand 3, pseudogene 1", "chemokine, cc motif, ligand 3-like 2", "g0s19-3", "g0s19-gamma", "ld78-gamma" ; - skos:exactMatch HGNC_symbol:CCL3P1 . + skos:exactMatch UMLS:C1419877, + HGNC:10629, + HGNC_symbol:CCL3P1 . OMIM:609469 a owl:Class ; rdfs:label "nephropathy, progressive, with deafness" ; IAO:0000142 PMID:12819239 ; RO:0002525 CHR:9606chr11q24 ; - oboInOwl:hasDbXref UMLS:C1836119 ; oboInOwl:hasExactSynonym "alport/focal segmental glomerulosclerosis-like syndrome", "nede", "nephropathy, progressive, with deafness" ; + skos:exactMatch UMLS:C1836119 ; biolink:category biolink:Disease . OMIM:609470 a owl:Class ; @@ -436356,10 +453044,10 @@ OMIM:609470 a owl:Class ; IAO:0000142 PMID:12749056, PMID:15173023 ; RO:0002525 CHR:9606chr11p15 ; - oboInOwl:hasDbXref UMLS:C1836118 ; oboInOwl:hasExactSynonym "LVNC2", "left ventricular noncompaction 2" ; rdfs:subClassOf OMIMPS:604169 ; + skos:exactMatch UMLS:C1836118 ; biolink:category biolink:Disease . OMIM:609508 a owl:Class ; @@ -436371,13 +453059,13 @@ OMIM:609508 a owl:Class ; PMID:16752401, PMID:17721977, PMID:8317498 ; - oboInOwl:hasDbXref UMLS:C1836080, - UMLS:C1836081 ; oboInOwl:hasExactSynonym "rhegmatogenous retinal detachment, autosomal dominant", "stickler syndrome, iia i, nonsyndromic ocular", "stickler syndrome, iia i, predominantly ocular", "stickler syndrome, atypical" ; rdfs:subClassOf OMIMPS:108300 ; + skos:exactMatch UMLS:C1836080, + UMLS:C1836081 ; biolink:category biolink:Disease . OMIM:609524 a owl:Class ; @@ -436387,12 +453075,12 @@ OMIM:609524 a owl:Class ; PMID:19050726, PMID:26472074, PMID:32022900 ; - oboInOwl:hasDbXref UMLS:C1836050 ; oboInOwl:hasExactSynonym "MFM5", "filaminopathy, autosomal dominant", "myopathy, myofibrillar, 5", "myopathy, myofibrillar, filamin c-related" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C1836050 ; biolink:category biolink:Disease . OMIM:609529 a owl:Class ; @@ -436401,11 +453089,11 @@ OMIM:609529 a owl:Class ; PMID:16007086, PMID:16007087, PMID:16049503 ; - oboInOwl:hasDbXref UMLS:C1836032 ; oboInOwl:hasExactSynonym "IGAD2", "iga, selective deficiency of, taci-related", "immunoglobulin a deficiency 2", "immunoglobulin a, selective deficiency of, taci-related" ; + skos:exactMatch UMLS:C1836032 ; biolink:category biolink:Disease . OMIM:609535 a owl:Class ; @@ -436424,16 +453112,16 @@ OMIM:609535 a owl:Class ; PMID:8195181, PMID:9093256, PMID:9867757 ; - oboInOwl:hasDbXref UMLS:C1836023, - UMLS:C1836024, - UMLS:C1836026, - UMLS:C2674941, - UMLS:C4225437 ; oboInOwl:hasExactSynonym "clopidogrel, poor metabolism of", "drug metabolism, poor, cyp2c19-related", "mephenytoin, poor metabolism of", "omeprazole, poor metabolism of", "proguanil, poor metabolism of" ; + skos:exactMatch UMLS:C1836023, + UMLS:C1836024, + UMLS:C1836026, + UMLS:C2674941, + UMLS:C4225437 ; biolink:category biolink:Disease . OMIM:609541 a owl:Class ; @@ -436441,21 +453129,21 @@ OMIM:609541 a owl:Class ; IAO:0000142 PMID:15852396, PMID:19344448, PMID:26385635 ; - oboInOwl:hasDbXref UMLS:C1836010 ; oboInOwl:hasExactSynonym "SPOAN", "spastic paraplegia, optic atrophy, and neuropathy" ; + skos:exactMatch UMLS:C1836010 ; biolink:category biolink:Disease . OMIM:609549 a owl:Class ; rdfs:label "nanophthalmos 2" ; IAO:0000142 PMID:1258954, PMID:15976030 ; - oboInOwl:hasDbXref UMLS:C1836006 ; oboInOwl:hasExactSynonym "NNO2", "nanophthalmia 2", "nanophthalmos 2", "nanophthalmos, autosomal recessive" ; rdfs:subClassOf OMIMPS:600165 ; + skos:exactMatch UMLS:C1836006 ; biolink:category biolink:Disease . OMIM:609558 a owl:Class ; @@ -436466,9 +453154,9 @@ OMIM:609558 a owl:Class ; PMID:18066601, PMID:20631155 ; RO:0002525 CHR:9606chr22q12.3 ; - oboInOwl:hasDbXref UMLS:C1836005 ; oboInOwl:hasExactSynonym "hpc6", "prostate cancer, hereditary, 6" ; + skos:exactMatch UMLS:C1836005 ; biolink:category biolink:Disease . OMIM:609560 a owl:Class ; @@ -436488,53 +453176,53 @@ OMIM:609560 a owl:Class ; PMID:23303857, PMID:6314875, PMID:7849699 ; - oboInOwl:hasDbXref UMLS:C3149750 ; oboInOwl:hasExactSynonym "MTDPS2", "mitochondrial DNA depletion myopathy, tk2-related", "mitochondrial DNA depletion syndrome 2 (myopathic type)" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C3149750 ; biolink:category biolink:Disease . OMIM:609566 a owl:Class ; rdfs:label "parietal foramina 3" ; IAO:0000142 PMID:12905082 ; RO:0002525 CHR:9606chr4q21-q23 ; - oboInOwl:hasDbXref UMLS:C1835980 ; oboInOwl:hasExactSynonym "PFM3", "parietal foramina 3" ; rdfs:subClassOf OMIMPS:168500 ; + skos:exactMatch UMLS:C1835980 ; biolink:category biolink:Disease . OMIM:609570 a owl:Class ; rdfs:label "migraine with or without aura, susceptibility to, 8" ; IAO:0000142 PMID:16080125 ; RO:0002525 CHR:9606chr5q21 ; - oboInOwl:hasDbXref UMLS:C1835968 ; oboInOwl:hasExactSynonym "mgr8", "migraine with or without aura, susceptibility to, 8" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C1835968 ; biolink:category biolink:Disease . OMIM:609572 a owl:Class ; rdfs:label "photoparoxysmal response 2" ; IAO:0000142 PMID:15929039 ; RO:0002525 CHR:9606chr13q31.3 ; - oboInOwl:hasDbXref UMLS:C1835967 ; oboInOwl:hasExactSynonym "PPR2", "photoparoxysmal response 2", "photoparoxysmal response with or without idiopathic generalized epilepsy" ; rdfs:subClassOf OMIMPS:132100 ; + skos:exactMatch UMLS:C1835967 ; biolink:category biolink:Disease . OMIM:609573 a owl:Class ; rdfs:label "photoparoxysmal response 3" ; IAO:0000142 PMID:15548544 ; RO:0002525 CHR:9606chr7q32 ; - oboInOwl:hasDbXref UMLS:C1835966 ; oboInOwl:hasExactSynonym "PPR3", "photoparoxysmal response 3", "photoparoxysmal response with or without myoclonic epilepsy" ; rdfs:subClassOf OMIMPS:132100 ; + skos:exactMatch UMLS:C1835966 ; biolink:category biolink:Disease . OMIM:609578 a owl:Class ; @@ -436543,17 +453231,17 @@ OMIM:609578 a owl:Class ; PMID:16061566 ; RO:0002525 CHR:9606chr10q23.3 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1865071 ; oboInOwl:hasExactSynonym "RCM2", "cardiomyopathy, familial restrictive, 2" ; rdfs:subClassOf OMIMPS:115210 ; + skos:exactMatch UMLS:C1865071 ; biolink:category biolink:Disease . OMIM:609579 a owl:Class ; rdfs:label "scaphocephaly, maxillary retrusion, and mental retardation" ; IAO:0000142 PMID:16061565 ; - oboInOwl:hasDbXref UMLS:C1865070 ; oboInOwl:hasExactSynonym "scaphocephaly, maxillary retrusion, and mental retardation" ; + skos:exactMatch UMLS:C1865070 ; biolink:category biolink:Disease . OMIM:609622 a owl:Class ; @@ -436561,10 +453249,10 @@ OMIM:609622 a owl:Class ; IAO:0000142 PMID:15761194, PMID:15890322, PMID:26168993 ; - oboInOwl:hasDbXref UMLS:C1865018 ; oboInOwl:hasExactSynonym "SQT3", "short qt syndrome 3" ; rdfs:subClassOf OMIMPS:609620 ; + skos:exactMatch UMLS:C1865018 ; biolink:category biolink:Disease . OMIM:609628 a owl:Class ; @@ -436573,19 +453261,19 @@ OMIM:609628 a owl:Class ; PMID:11795677, PMID:15994876, PMID:2809904 ; - oboInOwl:hasDbXref UMLS:C1864997 ; oboInOwl:hasExactSynonym "MJDS", "chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis", "majeed syndrome" ; + skos:exactMatch UMLS:C1864997 ; biolink:category biolink:Disease . OMIM:609630 a owl:Class ; rdfs:label "leukemia, chronic lymphocytic, susceptibility to, 1" ; IAO:0000142 PMID:16080117 ; RO:0002525 CHR:9606chr11p11 ; - oboInOwl:hasDbXref UMLS:C1864995 ; oboInOwl:hasExactSynonym "clls1", "leukemia, chronic lymphocytic, susceptibility to, 1" ; + skos:exactMatch UMLS:C1864995 ; biolink:category biolink:Disease . OMIM:609633 a owl:Class ; @@ -436593,10 +453281,10 @@ OMIM:609633 a owl:Class ; IAO:0000142 PMID:16175501, PMID:16205735 ; RO:0002525 CHR:9606chr21q22.13 ; - oboInOwl:hasDbXref UMLS:C1864994 ; oboInOwl:hasExactSynonym "MAFD3", "bipolar affective disorder, early-onset", "major affective disorder 3" ; + skos:exactMatch UMLS:C1864994 ; biolink:category biolink:Disease . OMIM:609634 a owl:Class ; @@ -436605,21 +453293,21 @@ OMIM:609634 a owl:Class ; PMID:16054921, PMID:16054936, PMID:19332696 ; - oboInOwl:hasDbXref UMLS:C1864987, - ORPHA:569 ; oboInOwl:hasExactSynonym "FHM3", "migraine, familial hemiplegic, 3" ; rdfs:subClassOf OMIMPS:141500 ; + skos:exactMatch UMLS:C1864987, + ORPHA:569 ; biolink:category biolink:Disease . OMIM:609636 a owl:Class ; rdfs:label "alzheimer disease 10" ; IAO:0000142 PMID:16175510 ; RO:0002525 CHR:9606chr7q36 ; - oboInOwl:hasDbXref UMLS:C1864828 ; oboInOwl:hasExactSynonym "ad10", "alzheimer disease 10", "alzheimer disease, familial, 10" ; + skos:exactMatch UMLS:C1864828 ; biolink:category biolink:Disease . OMIM:609637 a owl:Class ; @@ -436638,10 +453326,10 @@ OMIM:609637 a owl:Class ; PMID:7573047, PMID:8418661, PMID:9771712 ; - oboInOwl:hasDbXref UMLS:C1864827 ; oboInOwl:hasExactSynonym "HPE5", "holoprosencephaly 5" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C1864827 ; biolink:category biolink:Disease . OMIM:609644 a owl:Class ; @@ -436666,34 +453354,35 @@ OMIM:609644 a owl:Class ; PMID:30787433 ; RO:0002525 CHR:9606chr14q21.2 ; RO:0003303 OMIM:618086 ; - oboInOwl:hasDbXref UMLS:C1708000 ; oboInOwl:hasExactSynonym "FANCM", "fancm gene", "fanconi anemia-associated polypeptide, 250-kd", "kiaa1596" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:57697 ; - skos:exactMatch HGNC_symbol:FANCM ; + skos:exactMatch UMLS:C1708000, + HGNC:23168, + HGNC_symbol:FANCM ; biolink:category biolink:Gene . OMIM:609646 a owl:Class ; rdfs:label "deafness, autosomal recessive 42" ; IAO:0000142 PMID:15641023, PMID:21255762 ; - oboInOwl:hasDbXref UMLS:C1864818 ; oboInOwl:hasExactSynonym "DFNB42", "deafness, autosomal recessive 42" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1864818 ; biolink:category biolink:Disease . OMIM:609647 a owl:Class ; rdfs:label "deafness, autosomal recessive 46" ; IAO:0000142 PMID:15637723 ; RO:0002525 CHR:9606chr18p11.32-p11.31 ; - oboInOwl:hasDbXref UMLS:C1864815 ; oboInOwl:hasExactSynonym "DFNB46", "deafness, autosomal recessive 46" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1864815 ; biolink:category biolink:Disease . OMIM:609649 a owl:Class ; @@ -436705,11 +453394,11 @@ OMIM:609649 a owl:Class ; PMID:5920781, PMID:862218 ; RO:0002525 CHR:9606chr3p24-p21.2 ; - oboInOwl:hasDbXref UMLS:C1864801 ; oboInOwl:hasExactSynonym "TRICY1", "pilar cyst", "trichilemmal cyst 1", "tricholemmal cyst" ; + skos:exactMatch UMLS:C1864801 ; biolink:category biolink:Disease . OMIM:609656 a owl:Class ; @@ -436719,60 +453408,60 @@ OMIM:609656 a owl:Class ; PMID:12749049, PMID:566611 ; RO:0002525 CHR:9606chr17q23 ; - oboInOwl:hasDbXref UMLS:C1864783 ; oboInOwl:hasExactSynonym "bone size quantitative trait locus 1", "bszqtl1" ; + skos:exactMatch UMLS:C1864783 ; biolink:category biolink:Disease . OMIM:609657 a owl:Class ; rdfs:label "bone size quantitative trait locus 2" ; IAO:0000142 PMID:11393795 ; RO:0002525 CHR:9606chr5q ; - oboInOwl:hasDbXref UMLS:C1864782 ; oboInOwl:hasExactSynonym "bone size quantitative trait locus 2", "bszqtl2" ; + skos:exactMatch UMLS:C1864782 ; biolink:category biolink:Disease . OMIM:609670 a owl:Class ; rdfs:label "migraine with aura, susceptibility to, 9" ; IAO:0000142 PMID:12915447 ; RO:0002525 CHR:9606chr11q24 ; - oboInOwl:hasDbXref UMLS:C1864772 ; oboInOwl:hasExactSynonym "mgr9", "migraine with aura, susceptibility to, 9" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C1864772 ; biolink:category biolink:Disease . OMIM:609698 a owl:Class ; rdfs:label "thyroid hormone metabolism, abnormal" ; IAO:0000142 PMID:16228000, PMID:29882503 ; - oboInOwl:hasDbXref UMLS:C1864761, - ORPHA:171706 ; oboInOwl:hasExactSynonym "THMA", "thyroid hormone metabolism, abnormal" ; + skos:exactMatch UMLS:C1864761, + ORPHA:171706 ; biolink:category biolink:Disease . OMIM:609727 a owl:Class ; rdfs:label "spastic paraplegia 29, autosomal dominant" ; IAO:0000142 PMID:16130112 ; RO:0002525 CHR:9606chr1p31.1-p21.1 ; - oboInOwl:hasDbXref UMLS:C1857855, - ORPHA:101009 ; oboInOwl:hasExactSynonym "SPG29", "spastic paraplegia 29, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1857855, + ORPHA:101009 ; biolink:category biolink:Disease . OMIM:609741 a owl:Class ; rdfs:label "cataract 22, multiple types" ; IAO:0000142 PMID:15914629, PMID:23508780 ; - oboInOwl:hasDbXref UMLS:C1857853 ; oboInOwl:hasExactSynonym "CTRCT22", "cataract 22, multiple types", "cataract, congenital nuclear, autosomal recessive 2" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1857853 ; biolink:category biolink:Disease . OMIM:609745 a owl:Class ; @@ -436780,20 +453469,20 @@ OMIM:609745 a owl:Class ; IAO:0000142 PMID:10767336, PMID:15914615 ; RO:0002525 CHR:9606chr15q11-q13 ; - oboInOwl:hasDbXref UMLS:C1857852 ; oboInOwl:hasExactSynonym "GLC1I", "glaucoma 1, open angle, 1" ; + skos:exactMatch UMLS:C1857852 ; biolink:category biolink:Disease . OMIM:609750 a owl:Class ; rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 4" ; IAO:0000142 PMID:16130088 ; RO:0002525 CHR:9606chr10q25-q26 ; - oboInOwl:hasDbXref UMLS:C1857851 ; oboInOwl:hasExactSynonym "EIG4", "epilepsy, idiopathic generalized, susceptibility to, 4", "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" ; rdfs:subClassOf OMIMPS:600669 ; + skos:exactMatch UMLS:C1857851 ; biolink:category biolink:Disease . OMIM:609753 a owl:Class ; @@ -436802,11 +453491,11 @@ OMIM:609753 a owl:Class ; PMID:14517787, PMID:14571266, PMID:16282976 ; - oboInOwl:hasDbXref UMLS:C1857847 ; oboInOwl:hasExactSynonym "CELIAC4", "celiac disease, susceptibility to, 4", "gluten-sensitive enteropathy, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C1857847 ; biolink:category biolink:Disease . OMIM:609754 a owl:Class ; @@ -436819,21 +453508,21 @@ OMIM:609754 a owl:Class ; PMID:17551518, PMID:9497251 ; RO:0002525 CHR:9606chr5q31-q33 ; - oboInOwl:hasDbXref UMLS:C1857846 ; oboInOwl:hasExactSynonym "CELIAC2", "celiac disease, susceptibility to, 2", "gluten-sensitive enteropathy, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C1857846 ; biolink:category biolink:Disease . OMIM:609782 a owl:Class ; rdfs:label "aortic aneurysm, familial abdominal, 2" ; IAO:0000142 PMID:15096456 ; RO:0002525 CHR:9606chr4q31 ; - oboInOwl:hasDbXref UMLS:C1853364 ; oboInOwl:hasExactSynonym "AAA2", "aortic aneurysm, familial abdominal, 2" ; rdfs:subClassOf OMIMPS:100070 ; + skos:exactMatch UMLS:C1853364 ; biolink:category biolink:Disease . OMIM:609790 a owl:Class ; @@ -436843,10 +453532,10 @@ OMIM:609790 a owl:Class ; PMID:14564669, PMID:18761660 ; RO:0002525 CHR:9606chr9p22.1 ; - oboInOwl:hasDbXref UMLS:C1853360 ; oboInOwl:hasExactSynonym "ad11", "alzheimer disease 11", "alzheimer disease, familial, 11" ; + skos:exactMatch UMLS:C1853360 ; biolink:category biolink:Disease . OMIM:609796 a owl:Class ; @@ -436858,23 +453547,23 @@ OMIM:609796 a owl:Class ; PMID:22036214, PMID:22622422, PMID:9126018 ; - oboInOwl:hasDbXref UMLS:C1853354 ; oboInOwl:hasExactSynonym "PSS2", "acral peeling skin syndrome", "peeling skin syndrome 2", "peeling skin syndrome, acral iia" ; rdfs:subClassOf OMIMPS:270300 ; + skos:exactMatch UMLS:C1853354 ; biolink:category biolink:Disease . OMIM:609800 a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus, iia 4" ; IAO:0000142 PMID:15827091 ; RO:0002525 CHR:9606chr2p24 ; - oboInOwl:hasDbXref UMLS:C1853345 ; oboInOwl:hasExactSynonym "GEFSP4", "gefs+, iia 4", "generalized epilepsy with febrile seizures plus, iia 4" ; rdfs:subClassOf OMIMPS:604233 ; + skos:exactMatch UMLS:C1853345 ; biolink:category biolink:Disease . OMIM:609812 a owl:Class ; @@ -436884,11 +453573,11 @@ OMIM:609812 a owl:Class ; PMID:19760265, PMID:29233499, PMID:4183910 ; - oboInOwl:hasDbXref UMLS:C1853297 ; oboInOwl:hasExactSynonym "MODY8", "diabetes and pancreatic exocrine dysfunction", "diabetes-pancreatic exocrine dysfunction syndrome", "maturity-onset diabetes of the young, iia 8, with exocrine dysfunction" ; + skos:exactMatch UMLS:C1853297 ; biolink:category biolink:Disease . OMIM:609813 a owl:Class ; @@ -436896,10 +453585,10 @@ OMIM:609813 a owl:Class ; IAO:0000142 PMID:15122512, PMID:16385447, PMID:30531807 ; - oboInOwl:hasDbXref UMLS:C1853296 ; oboInOwl:hasExactSynonym "SCDO3", "spondylocostal dysostosis 3, autosomal recessive" ; rdfs:subClassOf OMIMPS:277300 ; + skos:exactMatch UMLS:C1853296 ; biolink:category biolink:Disease . OMIM:609814 a owl:Class ; @@ -436922,12 +453611,12 @@ OMIM:609814 a owl:Class ; PMID:7883953, PMID:8809142, PMID:9312129 ; - oboInOwl:hasDbXref UMLS:C0398777 ; oboInOwl:hasExactSynonym "CFHD", "c3 glomerulopathy 1", "cfh deficiency", "complement factor h deficiency", "factor h deficiency" ; + skos:exactMatch UMLS:C0398777 ; biolink:category biolink:Disease . OMIM:609815 a owl:Class ; @@ -436936,9 +453625,9 @@ OMIM:609815 a owl:Class ; PMID:16261692, PMID:20281709 ; RO:0002525 CHR:9606chr3p21.31 ; - oboInOwl:hasDbXref UMLS:C1853294 ; oboInOwl:hasExactSynonym "zd1", "zygodactyly 1" ; + skos:exactMatch UMLS:C1853294 ; biolink:category biolink:Disease . OMIM:609821 a owl:Class ; @@ -436948,20 +453637,20 @@ OMIM:609821 a owl:Class ; PMID:1333302, PMID:20966167, PMID:7706468 ; - oboInOwl:hasDbXref UMLS:C1853278 ; oboInOwl:hasExactSynonym "BDPLT8", "bleeding disorder due to p2ry12 defect", "bleeding disorder, platelet-type, 8" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C1853278 ; biolink:category biolink:Disease . OMIM:609822 a owl:Class ; rdfs:label "stature quantitative trait locus 7" ; IAO:0000142 PMID:15827092 ; RO:0002525 CHR:9606chr1p21 ; - oboInOwl:hasDbXref UMLS:C1853277 ; oboInOwl:hasExactSynonym "STQTL7", "stature quantitative trait locus 7" ; + skos:exactMatch UMLS:C1853277 ; biolink:category biolink:Disease . OMIM:609823 a owl:Class ; @@ -436969,19 +453658,19 @@ OMIM:609823 a owl:Class ; IAO:0000142 PMID:16385457, PMID:16385458, PMID:20510926 ; - oboInOwl:hasDbXref UMLS:C1853276 ; oboInOwl:hasExactSynonym "DFNB28", "deafness, autosomal recessive 28" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1853276 ; biolink:category biolink:Disease . OMIM:609876 a owl:Class ; rdfs:label "bone mineral density quantitative trait locus 6" ; IAO:0000142 PMID:12211443 ; RO:0002525 CHR:9606chr21q22.13-qter ; - oboInOwl:hasDbXref UMLS:C1835949 ; oboInOwl:hasExactSynonym "BMND6", "bone mineral density quantitative trait locus 6" ; + skos:exactMatch UMLS:C1835949 ; biolink:category biolink:Disease . OMIM:609887 a owl:Class ; @@ -436990,9 +453679,9 @@ OMIM:609887 a owl:Class ; PMID:17353431, PMID:18172102, PMID:20813748 ; - oboInOwl:hasDbXref UMLS:C1835933 ; oboInOwl:hasExactSynonym "GLC1G", "glaucoma 1, open angle, g" ; + skos:exactMatch UMLS:C1835933 ; biolink:category biolink:Disease . OMIM:609888 a owl:Class ; @@ -437037,11 +453726,11 @@ OMIM:609888 a owl:Class ; PMID:9851927, PMID:9973451 ; RO:0002525 CHR:9606chr10p13 ; - oboInOwl:hasDbXref UMLS:C1835932, - ORPHA:548 ; oboInOwl:hasExactSynonym "LPRS1", "leprosy, paucibacillary type, susceptibility to, 1", "leprosy, susceptibility to, 1" ; + skos:exactMatch UMLS:C1835932, + ORPHA:548 ; biolink:category biolink:Disease . OMIM:609893 a owl:Class ; @@ -437051,72 +453740,72 @@ OMIM:609893 a owl:Class ; PMID:8976668 ; RO:0002525 CHR:9606chr15q25.3-q26.1 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C2940785 ; oboInOwl:hasExactSynonym "CHNG3", "hypothyroidism, congenital, nongoitrous, 3", "resistance to thyrotropin", "thyrotropin resistance" ; rdfs:subClassOf OMIMPS:275200 ; + skos:exactMatch UMLS:C2940785 ; biolink:category biolink:Disease . OMIM:609903 a owl:Class ; rdfs:label "systemic lupus erythematosus, susceptibility to, 5" ; IAO:0000142 PMID:16189706 ; RO:0002525 CHR:9606chr13q32 ; - oboInOwl:hasDbXref UMLS:C1835929 ; oboInOwl:hasExactSynonym "SLEB5", "systemic lupus erythematosus, susceptibility to, 5" ; + skos:exactMatch UMLS:C1835929 ; biolink:category biolink:Disease . OMIM:609913 a owl:Class ; rdfs:label "retinitis pigmentosa 32" ; IAO:0000142 PMID:16189710, PMID:30157172 ; - oboInOwl:hasDbXref UMLS:C1835927, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP32", "retinitis pigmentosa 32" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1835927, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:609915 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1q" ; IAO:0000142 PMID:16228230 ; RO:0002525 CHR:9606chr7q22.3-q31.1 ; - oboInOwl:hasDbXref UMLS:C1835926 ; oboInOwl:hasExactSynonym "CMD1Q", "cardiomyopathy, dilated, 1q" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C1835926 ; biolink:category biolink:Disease . OMIM:609918 a owl:Class ; rdfs:label "gallbladder disease 2" ; IAO:0000142 PMID:16400619 ; RO:0002525 CHR:9606chr1p36.21 ; - oboInOwl:hasDbXref UMLS:C1835925 ; oboInOwl:hasExactSynonym "GBD2", "gallbladder disease 2" ; rdfs:subClassOf OMIMPS:600803 ; + skos:exactMatch UMLS:C1835925 ; biolink:category biolink:Disease . OMIM:609919 a owl:Class ; rdfs:label "gallbladder disease 3" ; IAO:0000142 PMID:16400619 ; RO:0002525 CHR:9606chr1p34.3 ; - oboInOwl:hasDbXref UMLS:C1835924 ; oboInOwl:hasExactSynonym "GBD3", "gallbladder disease 3" ; rdfs:subClassOf OMIMPS:600803 ; + skos:exactMatch UMLS:C1835924 ; biolink:category biolink:Disease . OMIM:609923 a owl:Class ; rdfs:label "retinitis pigmentosa 31" ; IAO:0000142 PMID:16189705, PMID:17924349 ; - oboInOwl:hasDbXref UMLS:C1835923 ; oboInOwl:hasExactSynonym "RP31", "retinitis pigmentosa 31" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1835923 ; biolink:category biolink:Disease . OMIM:609924 a owl:Class ; @@ -437125,19 +453814,19 @@ OMIM:609924 a owl:Class ; PMID:16465618, PMID:17562838, PMID:24117009 ; - oboInOwl:hasDbXref UMLS:C1835922 ; oboInOwl:hasExactSynonym "ACY1D", "aminoacylase 1 deficiency" ; + skos:exactMatch UMLS:C1835922 ; biolink:category biolink:Disease . OMIM:609941 a owl:Class ; rdfs:label "deafness, autosomal recessive 51" ; IAO:0000142 PMID:16158433 ; RO:0002525 CHR:9606chr11p13-p12 ; - oboInOwl:hasDbXref UMLS:C1864968 ; oboInOwl:hasExactSynonym "DFNB51", "deafness, autosomal recessive 51" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1864968 ; biolink:category biolink:Disease . OMIM:609946 a owl:Class ; @@ -437145,20 +453834,20 @@ OMIM:609946 a owl:Class ; IAO:0000142 PMID:16261342, PMID:18322454 ; RO:0002525 CHR:9606chr2p25.1-p24.3 ; - oboInOwl:hasDbXref UMLS:C1864964 ; oboInOwl:hasExactSynonym "DFNB47", "deafness, autosomal recessive 47" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1864964 ; biolink:category biolink:Disease . OMIM:609952 a owl:Class ; rdfs:label "deafness, autosomal recessive 55" ; IAO:0000142 PMID:16098016 ; RO:0002525 CHR:9606chr4q12-q13.2 ; - oboInOwl:hasDbXref UMLS:C1864962 ; oboInOwl:hasExactSynonym "DFNB55", "deafness, autosomal recessive 55" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1864962 ; biolink:category biolink:Disease . OMIM:609954 a owl:Class ; @@ -437167,10 +453856,10 @@ OMIM:609954 a owl:Class ; PMID:14966474, PMID:16467216 ; RO:0002525 CHR:9606chr3p24-p21 ; - oboInOwl:hasDbXref UMLS:C1864961 ; oboInOwl:hasExactSynonym "ASPG4", "asperger syndrome, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:608638 ; + skos:exactMatch UMLS:C1864961 ; biolink:category biolink:Disease . OMIM:609955 a owl:Class ; @@ -437178,12 +453867,12 @@ OMIM:609955 a owl:Class ; IAO:0000142 PMID:16098013 ; RO:0002525 CHR:9606chr2p23.3-p22.3 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C1864960 ; oboInOwl:hasExactSynonym "GINGF3", "fibromatosis, gingival, 3", "fibromatosis, gingival, hereditary, 3", "ggf3" ; rdfs:subClassOf OMIMPS:135300 ; + skos:exactMatch UMLS:C1864960 ; biolink:category biolink:Disease . OMIM:609958 a owl:Class ; @@ -437194,19 +453883,19 @@ OMIM:609958 a owl:Class ; PMID:12065182, PMID:16391567 ; RO:0002525 CHR:9606chr2p16 ; - oboInOwl:hasDbXref UMLS:C1864959 ; oboInOwl:hasExactSynonym "asrt3", "asthma-related traits, susceptibility to, 3" ; + skos:exactMatch UMLS:C1864959 ; biolink:category biolink:Disease . OMIM:609965 a owl:Class ; rdfs:label "deafness, autosomal dominant 53" ; IAO:0000142 PMID:15958501 ; RO:0002525 CHR:9606chr14q11.2-q12 ; - oboInOwl:hasDbXref UMLS:C1864957 ; oboInOwl:hasExactSynonym "DFNA53", "deafness, autosomal dominant 53" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1864957 ; biolink:category biolink:Disease . OMIM:609975 a owl:Class ; @@ -437217,10 +453906,10 @@ OMIM:609975 a owl:Class ; PMID:21252247, PMID:23273570, PMID:904979 ; - oboInOwl:hasDbXref UMLS:C1864948 ; oboInOwl:hasExactSynonym "HHF4", "hyperinsulinemic hypoglycemia, familial, 4" ; rdfs:subClassOf OMIMPS:256450 ; + skos:exactMatch UMLS:C1864948 ; biolink:category biolink:Disease . OMIM:609981 a owl:Class ; @@ -437230,12 +453919,12 @@ OMIM:609981 a owl:Class ; PMID:22354167, PMID:22354170, PMID:22499342 ; - oboInOwl:hasDbXref UMLS:C1864947 ; oboInOwl:hasExactSynonym "IMD54", "immunodeficiency 54", "natural killer cell and glucocorticoid deficiency with DNA repair defect", "natural killer cell deficiency, familial isolated" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1864947 ; biolink:category biolink:Disease . OMIM:609985 a owl:Class ; @@ -437244,30 +453933,30 @@ OMIM:609985 a owl:Class ; PMID:16532386, PMID:2570434 ; RO:0002525 CHR:9606chr4q31-q34 ; - oboInOwl:hasDbXref UMLS:C1864946 ; oboInOwl:hasExactSynonym "pand3", "panic disorder 3", "panic disorder susceptibility locus, chromosome 4q-related" ; + skos:exactMatch UMLS:C1864946 ; biolink:category biolink:Disease . OMIM:609994 a owl:Class ; rdfs:label "myopia 11, autosomal dominant" ; IAO:0000142 PMID:16052171 ; RO:0002525 CHR:9606chr4q22-q27 ; - oboInOwl:hasDbXref UMLS:C1864941 ; oboInOwl:hasExactSynonym "MYP11", "myopia 11, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1864941 ; biolink:category biolink:Disease . OMIM:609995 a owl:Class ; rdfs:label "myopia 12, autosomal dominant" ; IAO:0000142 PMID:15980214 ; RO:0002525 CHR:9606chr2q37.1 ; - oboInOwl:hasDbXref UMLS:C1864940 ; oboInOwl:hasExactSynonym "MYP12", "myopia 12, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1864940 ; biolink:category biolink:Disease . OMIM:610003 a owl:Class ; @@ -437279,12 +453968,12 @@ OMIM:610003 a owl:Class ; PMID:8014963, PMID:8041778, PMID:8743986 ; - oboInOwl:hasDbXref UMLS:C1864923, - ORPHA:1947 ; oboInOwl:hasExactSynonym "ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant", "epilepsy, progressive, with mental retardation", "northern epilepsy" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C1864923, + ORPHA:1947 ; biolink:category biolink:Disease . OMIM:610006 a owl:Class ; @@ -437295,20 +453984,20 @@ OMIM:610006 a owl:Class ; PMID:16317551, PMID:17945527, PMID:20547083 ; - oboInOwl:hasDbXref UMLS:C1864912, - ORPHA:79157 ; oboInOwl:hasExactSynonym "2-methylbutyryl glycinuria", "2-methylbutyryl-coa dehydrogenase deficiency", "short/branched-chain acyl-coa dehydrogenase deficiency" ; + skos:exactMatch UMLS:C1864912, + ORPHA:79157 ; biolink:category biolink:Disease . OMIM:610015 a owl:Class ; rdfs:label "glutamine deficiency, congenital" ; IAO:0000142 PMID:16267323, PMID:21353613 ; - oboInOwl:hasDbXref UMLS:C1864910 ; oboInOwl:hasExactSynonym "glutamine deficiency, congenital", "glutamine synthase deficiency, congenital systemic" ; + skos:exactMatch UMLS:C1864910 ; biolink:category biolink:Disease . OMIM:610019 a owl:Class ; @@ -437316,11 +454005,11 @@ OMIM:610019 a owl:Class ; IAO:0000142 PMID:11006246, PMID:11519376, PMID:21636066 ; - oboInOwl:hasDbXref UMLS:C1864908 ; oboInOwl:hasExactSynonym "CTRCT18", "cataract 18", "cataract, autosomal recessive congenital 2" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1864908 ; biolink:category biolink:Disease . OMIM:610024 a owl:Class ; @@ -437332,12 +454021,12 @@ OMIM:610024 a owl:Class ; PMID:6601944, PMID:8223112, PMID:8736222 ; - oboInOwl:hasDbXref UMLS:C1864900, - UMLS:C3552227 ; oboInOwl:hasExactSynonym "RCD3A", "achromatopsia 6", "cone dystrophy with night blindness and supernormal rod responses, pde6h-related", "retinal cone dystrophy 3a" ; + skos:exactMatch UMLS:C1864900, + UMLS:C3552227 ; biolink:category biolink:Disease . OMIM:610031 a owl:Class ; @@ -437351,11 +454040,11 @@ OMIM:610031 a owl:Class ; PMID:23001566, PMID:25059107, PMID:26732629 ; - oboInOwl:hasDbXref UMLS:C3552236 ; oboInOwl:hasExactSynonym "CDCBM7", "cortical dysplasia, complex, with other brain malformations 7", "polymicrogyria, symmetric or asymmetric" ; rdfs:subClassOf OMIMPS:614039 ; + skos:exactMatch UMLS:C3552236 ; biolink:category biolink:Disease . OMIM:610048 a owl:Class ; @@ -437370,10 +454059,10 @@ OMIM:610048 a owl:Class ; PMID:312637, PMID:350201, PMID:5304426 ; - oboInOwl:hasDbXref UMLS:C1864738 ; oboInOwl:hasExactSynonym "CSCD", "congenital stromal corneal dystrophy", "corneal dystrophy, congenital stromal" ; + skos:exactMatch UMLS:C1864738 ; biolink:category biolink:Disease . OMIM:610064 a owl:Class ; @@ -437383,9 +454072,9 @@ OMIM:610064 a owl:Class ; PMID:18424454, PMID:8886164 ; RO:0002525 CHR:9606chrChr.17 ; - oboInOwl:hasDbXref UMLS:C1864733 ; oboInOwl:hasExactSynonym "ods1", "opioid dependence, susceptibility to, 1" ; + skos:exactMatch UMLS:C1864733 ; biolink:category biolink:Disease . OMIM:610065 a owl:Class ; @@ -437394,9 +454083,9 @@ OMIM:610065 a owl:Class ; PMID:16642431, PMID:9843983 ; RO:0002525 CHR:9606chr20p12 ; - oboInOwl:hasDbXref UMLS:C1864732 ; oboInOwl:hasExactSynonym "SLEB7", "systemic lupus erythematosus, susceptibility to, 7" ; + skos:exactMatch UMLS:C1864732 ; biolink:category biolink:Disease . OMIM:610066 a owl:Class ; @@ -437404,9 +454093,9 @@ OMIM:610066 a owl:Class ; IAO:0000142 PMID:10677315, PMID:16642431 ; RO:0002525 CHR:9606chr20q13 ; - oboInOwl:hasDbXref UMLS:C1864731 ; oboInOwl:hasExactSynonym "SLEB8", "systemic lupus erythematosus, susceptibility to, 8" ; + skos:exactMatch UMLS:C1864731 ; biolink:category biolink:Disease . OMIM:610071 a owl:Class ; @@ -437414,10 +454103,10 @@ OMIM:610071 a owl:Class ; IAO:0000142 PMID:14985373, PMID:16525030 ; RO:0002525 CHR:9606chr2p14-p13.3 ; - oboInOwl:hasDbXref UMLS:C1864729 ; oboInOwl:hasExactSynonym "HRPT3", "hyperparathyroidism 3" ; rdfs:subClassOf OMIMPS:145000 ; + skos:exactMatch UMLS:C1864729 ; biolink:category biolink:Disease . OMIM:610090 a owl:Class ; @@ -437428,12 +454117,12 @@ OMIM:610090 a owl:Class ; PMID:18024216, PMID:24266778, PMID:24658933 ; - oboInOwl:hasDbXref UMLS:C1864723 ; oboInOwl:hasExactSynonym "PNPOD", "epileptic encephalopathy, neonatal, pnpo-related", "pnpo deficiency", "pyridoxamine 5-prime-phosphate oxidase deficiency", "seizures, pyridoxine-resistant, plp-sensitive" ; + skos:exactMatch UMLS:C1864723 ; biolink:category biolink:Disease . OMIM:610093 a owl:Class ; @@ -437444,11 +454133,11 @@ OMIM:610093 a owl:Class ; PMID:15988238, PMID:17661825, PMID:3378363 ; - oboInOwl:hasDbXref UMLS:C1864720 ; oboInOwl:hasExactSynonym "MCOP2", "anophthalmia, clinical, isolated", "microphthalmia, isolated 2" ; rdfs:subClassOf OMIMPS:251600 ; + skos:exactMatch UMLS:C1864720 ; biolink:category biolink:Disease . OMIM:610099 a owl:Class ; @@ -437457,10 +454146,11 @@ OMIM:610099 a owl:Class ; PMID:15036327 ; RO:0002525 CHR:9606chr8p22-q11 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C1864706, - ORPHA:399086 ; oboInOwl:hasExactSynonym "MPD3", "myopathy, distal, 3" ; + rdfs:subClassOf OMIMPS:160500 ; + skos:exactMatch UMLS:C1864706, + ORPHA:399086 ; biolink:category biolink:Disease . OMIM:610100 a owl:Class ; @@ -437468,10 +454158,10 @@ OMIM:610100 a owl:Class ; IAO:0000142 PMID:14557576, PMID:24500646, PMID:3859241 ; - oboInOwl:hasDbXref UMLS:C4013360 ; oboInOwl:hasExactSynonym "GAN2", "giant axonal neuropathy 2, autosomal dominant" ; rdfs:subClassOf OMIMPS:256850 ; + skos:exactMatch UMLS:C4013360 ; biolink:category biolink:Disease . OMIM:610102 a owl:Class ; @@ -437495,11 +454185,11 @@ OMIM:610102 a owl:Class ; PMID:8892662, PMID:9218625, PMID:9856499 ; - oboInOwl:hasDbXref UMLS:C1864694, - ORPHA:169150 ; oboInOwl:hasExactSynonym "C7D", "c7 deficiency", "complement component 7 deficiency" ; + skos:exactMatch UMLS:C1864694, + ORPHA:169150 ; biolink:category biolink:Disease . OMIM:610114 a owl:Class ; @@ -437508,9 +454198,9 @@ OMIM:610114 a owl:Class ; PMID:15469424, PMID:16446976 ; RO:0002525 CHR:9606chr9q22 ; - oboInOwl:hasDbXref UMLS:C1864691 ; oboInOwl:hasExactSynonym "STQTL8", "stature quantitative trait locus 8" ; + skos:exactMatch UMLS:C1864691 ; biolink:category biolink:Disease . OMIM:610125 a owl:Class ; @@ -437530,12 +454220,12 @@ OMIM:610125 a owl:Class ; PMID:24859618, PMID:25293953, PMID:25589041 ; - oboInOwl:hasDbXref UMLS:C1864690, - UMLS:C4225436 ; oboInOwl:hasExactSynonym "MCOPS5", "microphthalmia, syndromic 5", "retinal dystrophy, early-onset, with or without pituitary dysfunction" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C1864690, + UMLS:C4225436 ; biolink:category biolink:Disease . OMIM:610127 a owl:Class ; @@ -437549,25 +454239,25 @@ OMIM:610127 a owl:Class ; PMID:25298308, PMID:4094650, PMID:5688459 ; - oboInOwl:hasDbXref UMLS:C1864669, - UMLS:C1864670 ; oboInOwl:hasExactSynonym "CLN10", "ceroid lipofuscinosis, neuronal, 10", "ceroid lipofuscinosis, neuronal, cathepsin d-deficient", "neuronal ceroid lipofuscinosis due to cathepsin d deficiency", "neuronal ceroid lipofuscinosis, congenital" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C1864669, + UMLS:C1864670 ; biolink:category biolink:Disease . OMIM:610131 a owl:Class ; rdfs:label "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4" ; IAO:0000142 PMID:16685652, PMID:21555342 ; - oboInOwl:hasDbXref UMLS:C1864668 ; oboInOwl:hasExactSynonym "PEOA4", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4", "progressive external ophthalmoplegia, autosomal dominant 4" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C1864668 ; biolink:category biolink:Disease . OMIM:610141 a owl:Class ; @@ -437580,18 +454270,18 @@ OMIM:610141 a owl:Class ; PMID:22726844, PMID:24952745 ; RO:0002525 CHR:9606chr1q23.3 ; - oboInOwl:hasDbXref UMLS:C1857828 ; oboInOwl:hasExactSynonym "qt interval, variation 1n" ; + skos:exactMatch UMLS:C1857828 ; biolink:category biolink:Disease . OMIM:610143 a owl:Class ; rdfs:label "deafness, autosomal recessive 62" ; IAO:0000142 PMID:16650082 ; RO:0002525 CHR:9606chr12p13.2-p11.23 ; - oboInOwl:hasDbXref UMLS:C1857820 ; oboInOwl:hasExactSynonym "DFNB62", "deafness, autosomal recessive 62" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1857820 ; biolink:category biolink:Disease . OMIM:610149 a owl:Class ; @@ -437607,14 +454297,14 @@ OMIM:610149 a owl:Class ; PMID:18511946, PMID:18535016, PMID:18583975 ; - oboInOwl:hasDbXref UMLS:C1857813, - UMLS:C1857814, - UMLS:C1857815 ; oboInOwl:hasExactSynonym "ARMD7", "macular degeneration, age-related, 7", "macular degeneration, age-related, neovascular type, susceptibility to", "macular degeneration, age-related, wet type, susceptibility to" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C1857813, + UMLS:C1857814, + UMLS:C1857815 ; biolink:category biolink:Disease . OMIM:610153 a owl:Class ; @@ -437622,30 +454312,30 @@ OMIM:610153 a owl:Class ; IAO:0000142 PMID:15538632, PMID:17186462, PMID:18084694 ; - oboInOwl:hasDbXref UMLS:C1857811 ; oboInOwl:hasExactSynonym "DFNB49", "deafness, autosomal recessive 49" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1857811 ; biolink:category biolink:Disease . OMIM:610154 a owl:Class ; rdfs:label "deafness, autosomal recessive 44" ; IAO:0000142 PMID:15583425, PMID:24482543 ; - oboInOwl:hasDbXref UMLS:C1857809 ; oboInOwl:hasExactSynonym "DFNB44", "deafness, autosomal recessive 44" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1857809 ; biolink:category biolink:Disease . OMIM:610156 a owl:Class ; rdfs:label "mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome" ; IAO:0000142 PMID:16493448, PMID:19668215 ; - oboInOwl:hasDbXref UMLS:C1857802 ; oboInOwl:hasExactSynonym "MORMS", "mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome", "morm syndrome" ; + skos:exactMatch UMLS:C1857802 ; biolink:category biolink:Disease . OMIM:610158 a owl:Class ; @@ -437660,12 +454350,12 @@ OMIM:610158 a owl:Class ; PMID:6968504 ; RO:0002525 CHR:9606chr13pter-q12.13 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1857800 ; oboInOwl:hasExactSynonym "FECD2", "corneal dystrophy, fuchs endothelial, 2", "corneal dystrophy, fuchs endothelial, late-onset", "fcd1 locus" ; rdfs:subClassOf OMIMPS:136800 ; + skos:exactMatch UMLS:C1857800 ; biolink:category biolink:Disease . OMIM:610163 a owl:Class ; @@ -437674,20 +454364,20 @@ OMIM:610163 a owl:Class ; PMID:16672702, PMID:1709425, PMID:3262828 ; - oboInOwl:hasDbXref UMLS:C1857798 ; oboInOwl:hasExactSynonym "IMD25", "immunodeficiency 25", "immunodeficiency due to defect 1n cd3-zeta" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1857798 ; biolink:category biolink:Disease . OMIM:610170 a owl:Class ; rdfs:label "kyphoscoliosis 1" ; IAO:0000142 PMID:16596674 ; RO:0002525 CHR:9606chr5p13 ; - oboInOwl:hasDbXref UMLS:C1857795 ; oboInOwl:hasExactSynonym "KYPSC1", "kyphoscoliosis 1" ; + skos:exactMatch UMLS:C1857795 ; biolink:category biolink:Disease . OMIM:610181 a owl:Class ; @@ -437695,19 +454385,19 @@ OMIM:610181 a owl:Class ; IAO:0000142 PMID:15908569, PMID:16845400, PMID:25243380 ; - oboInOwl:hasDbXref UMLS:C3489724 ; oboInOwl:hasExactSynonym "AGS2", "aicardi-goutieres syndrome 2" ; rdfs:subClassOf OMIMPS:225750 ; + skos:exactMatch UMLS:C3489724 ; biolink:category biolink:Disease . OMIM:610189 a owl:Class ; rdfs:label "senior-loken syndrome 6" ; IAO:0000142 PMID:16682973 ; - oboInOwl:hasDbXref UMLS:C1857779 ; oboInOwl:hasExactSynonym "SLSN6", "senior-loken syndrome 6" ; rdfs:subClassOf OMIMPS:266900 ; + skos:exactMatch UMLS:C1857779 ; biolink:category biolink:Disease . OMIM:610198 a owl:Class ; @@ -437716,12 +454406,12 @@ OMIM:610198 a owl:Class ; PMID:17244376, PMID:22797137, PMID:22981120 ; - oboInOwl:hasDbXref UMLS:C1857776 ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria, iia 5", "MGCA5", "cardiomyopathy, dilated, with ataxia", "mga, iia 5" ; rdfs:subClassOf OMIMPS:250950 ; + skos:exactMatch UMLS:C1857776 ; biolink:category biolink:Disease . OMIM:610199 a owl:Class ; @@ -437730,10 +454420,10 @@ OMIM:610199 a owl:Class ; PMID:16715098, PMID:21139041, PMID:26259131 ; - oboInOwl:hasDbXref UMLS:C1857775 ; oboInOwl:hasExactSynonym "NDH", "diabetes mellitus, neonatal, with congenital hypothyroidism", "ndh syndrome" ; + skos:exactMatch UMLS:C1857775 ; biolink:category biolink:Disease . OMIM:610202 a owl:Class ; @@ -437742,15 +454432,15 @@ OMIM:610202 a owl:Class ; PMID:16470690, PMID:17982426, PMID:24664492 ; - oboInOwl:hasDbXref UMLS:C1857768, - UMLS:C3888097, - ORPHA:91492 ; oboInOwl:hasExactSynonym "CTRCT21", "cataract 21, multiple types", "cataract 21, multiple types, with or without microcornea", "cataract, congenital, cerulean type, 4", "cataract, pulverulent, juvenile-onset" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1857768, + UMLS:C3888097, + ORPHA:91492 ; biolink:category biolink:Disease . OMIM:610208 a owl:Class ; @@ -437758,11 +454448,11 @@ OMIM:610208 a owl:Class ; IAO:0000142 PMID:11836652, PMID:16773568 ; RO:0002525 CHR:9606chr17p13.1 ; - oboInOwl:hasDbXref UMLS:C1857752 ; oboInOwl:hasExactSynonym "mgr10", "migraine with or without aura, susceptibility to, 10", "migraine with pulsation" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C1857752 ; biolink:category biolink:Disease . OMIM:610209 a owl:Class ; @@ -437770,10 +454460,10 @@ OMIM:610209 a owl:Class ; IAO:0000142 PMID:11836652, PMID:16773568 ; RO:0002525 CHR:9606chr18q12.1 ; - oboInOwl:hasDbXref UMLS:C1857751 ; oboInOwl:hasExactSynonym "mgr11", "migraine with or without aura, susceptibility to, 11" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C1857751 ; biolink:category biolink:Disease . OMIM:610213 a owl:Class ; @@ -437782,10 +454472,10 @@ OMIM:610213 a owl:Class ; PMID:16740915 ; RO:0002525 CHR:9606chr5p15.2-p14.3 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C1857749 ; oboInOwl:hasExactSynonym "ANIB4", "aneurysm, intracranial berry, 4" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C1857749 ; biolink:category biolink:Disease . OMIM:610217 a owl:Class ; @@ -437796,14 +454486,14 @@ OMIM:610217 a owl:Class ; PMID:18443314, PMID:18799783, PMID:18981035 ; - oboInOwl:hasDbXref UMLS:C1857747, - UMLS:C2750220 ; oboInOwl:hasExactSynonym "NBIA2B", "karak syndrome", "neuroaxonal dystrophy, atypical", "neurodegeneration with brain iron accumulation 2b", "neurodegeneration with brain iron accumulation, pla2g6-related" ; rdfs:subClassOf OMIMPS:234200 ; + skos:exactMatch UMLS:C1857747, + UMLS:C2750220 ; biolink:category biolink:Disease . OMIM:610220 a owl:Class ; @@ -437812,26 +454502,26 @@ OMIM:610220 a owl:Class ; PMID:17301963, PMID:17329413, PMID:17373699 ; - oboInOwl:hasDbXref UMLS:C1857744 ; oboInOwl:hasExactSynonym "DFNB59", "deafness, autosomal recessive 59" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1857744 ; biolink:category biolink:Disease . OMIM:610227 a owl:Class ; rdfs:label "seborrhea-like dermatitis with psoriasiform elements" ; IAO:0000142 PMID:16751772 ; - oboInOwl:hasDbXref UMLS:C1853258 ; oboInOwl:hasExactSynonym "seborrhea-like dermatitis with psoriasiform elements" ; + skos:exactMatch UMLS:C1853258 ; biolink:category biolink:Disease . OMIM:610234 a owl:Class ; rdfs:label "synpolydactyly 3" ; IAO:0000142 PMID:16712704 ; RO:0002525 CHR:9606chr14q11.2-q12 ; - oboInOwl:hasDbXref UMLS:C1853255 ; oboInOwl:hasExactSynonym "SPD3", "synpolydactyly 3" ; + skos:exactMatch UMLS:C1853255 ; biolink:category biolink:Disease . OMIM:610239 a owl:Class ; @@ -437839,19 +454529,19 @@ OMIM:610239 a owl:Class ; IAO:0000142 PMID:16322534, PMID:16570200 ; RO:0002525 CHR:9606chr4q32.3 ; - oboInOwl:hasDbXref UMLS:C1853253 ; oboInOwl:hasExactSynonym "hdlcq4", "high density lipoprotein cholesterol level quantitative trait locus 4" ; + skos:exactMatch UMLS:C1853253 ; biolink:category biolink:Disease . OMIM:610244 a owl:Class ; rdfs:label "spastic paraplegia 33, autosomal dominant" ; IAO:0000142 PMID:16826525, PMID:18606302 ; - oboInOwl:hasDbXref UMLS:C1853251 ; oboInOwl:hasExactSynonym "SPG33", "spastic paraplegia 33, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1853251 ; biolink:category biolink:Disease . OMIM:610245 a owl:Class ; @@ -437859,10 +454549,10 @@ OMIM:610245 a owl:Class ; IAO:0000142 PMID:15306549, PMID:21035104, PMID:22243190 ; - oboInOwl:hasDbXref UMLS:C1853250 ; oboInOwl:hasExactSynonym "SCA23", "spinocerebellar ataxia 23" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1853250 ; biolink:category biolink:Disease . OMIM:610246 a owl:Class ; @@ -437870,11 +454560,11 @@ OMIM:610246 a owl:Class ; IAO:0000142 PMID:16251216, PMID:20208537, PMID:20725928 ; - oboInOwl:hasDbXref UMLS:C1853249, - ORPHA:101109 ; oboInOwl:hasExactSynonym "SCA28", "spinocerebellar ataxia 28" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1853249, + ORPHA:101109 ; biolink:category biolink:Disease . OMIM:610247 a owl:Class ; @@ -437883,20 +454573,20 @@ OMIM:610247 a owl:Class ; PMID:16453027, PMID:20208534 ; RO:0002525 CHR:9606chr7q11.2 ; - oboInOwl:hasDbXref UMLS:C0341106, - UMLS:C4551589 ; oboInOwl:hasExactSynonym "EOE1", "esophagitis, eosinophilic", "esophagitis, eosinophilic, 1" ; + skos:exactMatch UMLS:C0341106, + UMLS:C4551589 ; biolink:category biolink:Disease . OMIM:610248 a owl:Class ; rdfs:label "deafness, autosomal recessive 65" ; RO:0002525 CHR:9606chr20q13.2-q13.3 ; - oboInOwl:hasDbXref UMLS:C1853248 ; oboInOwl:hasExactSynonym "DFNB65", "deafness, autosomal recessive 65" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1853248 ; biolink:category biolink:Disease . OMIM:610250 a owl:Class ; @@ -437905,10 +454595,10 @@ OMIM:610250 a owl:Class ; PMID:16826527, PMID:18321925, PMID:19034539 ; - oboInOwl:hasDbXref UMLS:C1853247 ; oboInOwl:hasExactSynonym "SPG31", "spastic paraplegia 31, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1853247 ; biolink:category biolink:Disease . OMIM:610253 a owl:Class ; @@ -437923,7 +454613,6 @@ OMIM:610253 a owl:Class ; PMID:21204793, PMID:21910222, PMID:22726846 ; - oboInOwl:hasDbXref UMLS:C0795833 ; oboInOwl:hasExactSynonym "9q subtelomeric deletion syndrome", "9q- syndrome", "KLEFS1", @@ -437931,6 +454620,7 @@ OMIM:610253 a owl:Class ; "kleefstra syndrome 1" ; rdfs:subClassOf OMIMPS:156200, OMIMPS:610253 ; + skos:exactMatch UMLS:C0795833 ; biolink:category biolink:Disease . OMIM:610260 a owl:Class ; @@ -437940,10 +454630,10 @@ OMIM:610260 a owl:Class ; PMID:7333028 ; RO:0002525 CHR:9606chr16p13-p12 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C1853228 ; oboInOwl:hasExactSynonym "IHPS2", "pyloric stenosis, infantile hypertrophic, 2" ; rdfs:subClassOf OMIMPS:179010 ; + skos:exactMatch UMLS:C1853228 ; biolink:category biolink:Disease . OMIM:610261 a owl:Class ; @@ -437951,10 +454641,10 @@ OMIM:610261 a owl:Class ; IAO:0000142 PMID:16826522 ; RO:0002525 CHR:9606chr20q11-q13 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1853227 ; oboInOwl:hasExactSynonym "hypertension, essential, body mass-related", "hypertension, essential, susceptibility to, 5", "hyt5" ; + skos:exactMatch UMLS:C1853227 ; biolink:category biolink:Disease . OMIM:610262 a owl:Class ; @@ -437963,10 +454653,10 @@ OMIM:610262 a owl:Class ; PMID:19423552 ; RO:0002525 CHR:9606chr5p13-q12 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C1853226 ; oboInOwl:hasExactSynonym "hypertension, essential, kidney function-related", "hypertension, essential, susceptibility to, 6", "hyt6" ; + skos:exactMatch UMLS:C1853226 ; biolink:category biolink:Disease . OMIM:610265 a owl:Class ; @@ -437974,19 +454664,19 @@ OMIM:610265 a owl:Class ; IAO:0000142 PMID:15905332, PMID:16459341, PMID:16752389 ; - oboInOwl:hasDbXref UMLS:C1853223 ; oboInOwl:hasExactSynonym "DFNB67", "deafness, autosomal recessive 67" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1853223 ; biolink:category biolink:Disease . OMIM:610282 a owl:Class ; rdfs:label "retinitis pigmentosa 35" ; IAO:0000142 PMID:16199541 ; - oboInOwl:hasDbXref UMLS:C1853214 ; oboInOwl:hasExactSynonym "RP35", "retinitis pigmentosa 35" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1853214 ; biolink:category biolink:Disease . OMIM:610293 a owl:Class ; @@ -437995,41 +454685,41 @@ OMIM:610293 a owl:Class ; PMID:17442906, PMID:26996948, PMID:31445883 ; - oboInOwl:hasDbXref UMLS:C1853205, - UMLS:C5201145, - ORPHA:83639 ; oboInOwl:hasExactSynonym "GPIBD1", "glycosylphosphatidylinositol biosynthesis defect 1", "glycosylphosphatidylinositol deficiency", "portal hypertension with seizures and/or macrocephaly" ; + skos:exactMatch UMLS:C1853205, + UMLS:C5201145, + ORPHA:83639 ; biolink:category biolink:Disease . OMIM:610294 a owl:Class ; rdfs:label "intelligence quantitative trait locus 2" ; IAO:0000142 PMID:16001363 ; RO:0002525 CHR:9606chr6p25.3-p22.3 ; - oboInOwl:hasDbXref UMLS:C1853204 ; oboInOwl:hasExactSynonym "intelligence quantitative trait locus 2", "intlq2" ; + skos:exactMatch UMLS:C1853204 ; biolink:category biolink:Disease . OMIM:610295 a owl:Class ; rdfs:label "intelligence quantitative trait locus 3" ; IAO:0000142 PMID:16001363 ; RO:0002525 CHR:9606chr2q24.1-q31.1 ; - oboInOwl:hasDbXref UMLS:C1853203 ; oboInOwl:hasExactSynonym "intelligence quantitative trait locus 3", "intlq3" ; + skos:exactMatch UMLS:C1853203 ; biolink:category biolink:Disease . OMIM:610297 a owl:Class ; rdfs:label "parkinson disease 13, autosomal dominant, susceptibility to" ; IAO:0000142 PMID:15961413, PMID:18364387 ; - oboInOwl:hasDbXref UMLS:C1853202 ; oboInOwl:hasExactSynonym "PARK13", "parkinson disease 13, autosomal dominant, susceptibility to" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C1853202 ; biolink:category biolink:Disease . OMIM:610313 a owl:Class ; @@ -438038,11 +454728,11 @@ OMIM:610313 a owl:Class ; PMID:16782820, PMID:20400119, PMID:31497877 ; - oboInOwl:hasDbXref UMLS:C1853198, - ORPHA:157820 ; oboInOwl:hasExactSynonym "CISS2", "crisponi/cold-induced sweating syndrome 2" ; rdfs:subClassOf OMIMPS:272430 ; + skos:exactMatch UMLS:C1853198, + ORPHA:157820 ; biolink:category biolink:Disease . OMIM:610320 a owl:Class ; @@ -438050,10 +454740,10 @@ OMIM:610320 a owl:Class ; IAO:0000142 PMID:15273935, PMID:16501916 ; RO:0002525 CHR:9606chr1p36 ; - oboInOwl:hasDbXref UMLS:C1853196 ; oboInOwl:hasExactSynonym "MYP14", "myopia 14" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C1853196 ; biolink:category biolink:Disease . OMIM:610321 a owl:Class ; @@ -438061,20 +454751,20 @@ OMIM:610321 a owl:Class ; IAO:0000142 PMID:16508751, PMID:20407467 ; RO:0002525 CHR:9606chr15q12 ; - oboInOwl:hasDbXref UMLS:C1853195 ; oboInOwl:hasExactSynonym "HPC7", "prostate cancer aggressiveness", "prostate cancer, hereditary, 7" ; + skos:exactMatch UMLS:C1853195 ; biolink:category biolink:Disease . OMIM:610329 a owl:Class ; rdfs:label "aicardi-goutieres syndrome 3" ; IAO:0000142 PMID:16845400, PMID:23322642 ; - oboInOwl:hasDbXref UMLS:C1835916 ; oboInOwl:hasExactSynonym "AGS3", "aicardi-goutieres syndrome 3" ; rdfs:subClassOf OMIMPS:225750 ; + skos:exactMatch UMLS:C1835916 ; biolink:category biolink:Disease . OMIM:610333 a owl:Class ; @@ -438083,10 +454773,10 @@ OMIM:610333 a owl:Class ; PMID:16845400, PMID:17846997, PMID:23592335 ; - oboInOwl:hasDbXref UMLS:C1835912 ; oboInOwl:hasExactSynonym "AGS4", "aicardi-goutieres syndrome 4" ; rdfs:subClassOf OMIMPS:225750 ; + skos:exactMatch UMLS:C1835912 ; biolink:category biolink:Disease . OMIM:610353 a owl:Class ; @@ -438094,9 +454784,6 @@ OMIM:610353 a owl:Class ; IAO:0000142 PMID:16826524, PMID:25770198, PMID:25847220 ; - oboInOwl:hasDbXref UMLS:C1835905, - UMLS:C4692954, - UMLS:C4692955 ; oboInOwl:hasExactSynonym "ENFL4", "convulsions, benign familial infantile, 6", "epilepsy, familial, with nocturnal wandering and ictal fear", @@ -438104,6 +454791,9 @@ OMIM:610353 a owl:Class ; "seizures, benign familial infantile, 6" ; rdfs:subClassOf OMIMPS:600513, OMIMPS:601764 ; + skos:exactMatch UMLS:C1835905, + UMLS:C4692954, + UMLS:C4692955 ; biolink:category biolink:Disease . OMIM:610356 a owl:Class ; @@ -438114,11 +454804,11 @@ OMIM:610356 a owl:Class ; PMID:21882291, PMID:23221069, PMID:8333273 ; - oboInOwl:hasDbXref UMLS:C1835897 ; oboInOwl:hasExactSynonym "RCD3B", "cone dystrophy with night blindness and supernormal rod responses, kcnv2-related", "cone dystrophy with supernormal rod responses", "retinal cone dystrophy 3b" ; + skos:exactMatch UMLS:C1835897 ; biolink:category biolink:Disease . OMIM:610357 a owl:Class ; @@ -438131,12 +454821,12 @@ OMIM:610357 a owl:Class ; PMID:29159194, PMID:31488895, PMID:32096284 ; - oboInOwl:hasDbXref UMLS:C5235139, - ORPHA:101010 ; oboInOwl:hasExactSynonym "SPG30", "spastic paraplegia 30, autosomal dominant", "spastic paraplegia 30, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C5235139, + ORPHA:101010 ; biolink:category biolink:Disease . OMIM:610359 a owl:Class ; @@ -438145,10 +454835,10 @@ OMIM:610359 a owl:Class ; PMID:19710410, PMID:19878916, PMID:23029027 ; - oboInOwl:hasDbXref UMLS:C1835895 ; oboInOwl:hasExactSynonym "RP33", "retinitis pigmentosa 33" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1835895 ; biolink:category biolink:Disease . OMIM:610361 a owl:Class ; @@ -438156,21 +454846,21 @@ OMIM:610361 a owl:Class ; IAO:0000142 PMID:11844159, PMID:16909398 ; RO:0002525 CHR:9606chr13q33.1-q34 ; - oboInOwl:hasDbXref UMLS:C1835894 ; oboInOwl:hasExactSynonym "OFC9", "cleft 51p with or without cleft palate, nonsyndromic, 9", "orofacial cleft 9" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1835894 ; biolink:category biolink:Disease . OMIM:610370 a owl:Class ; rdfs:label "diarrhea 4, malabsorptive, congenital" ; IAO:0000142 PMID:16855267 ; - oboInOwl:hasDbXref UMLS:C1835888 ; oboInOwl:hasExactSynonym "DIAR4", "diarrhea 4, malabsorptive, congenital", "enteric anendocrinosis" ; rdfs:subClassOf OMIMPS:214700 ; + skos:exactMatch UMLS:C1835888 ; biolink:category biolink:Disease . OMIM:610379 a owl:Class ; @@ -438187,9 +454877,9 @@ OMIM:610379 a owl:Class ; PMID:21131425, PMID:21935451, PMID:27337340 ; - oboInOwl:hasDbXref UMLS:C1835867 ; oboInOwl:hasExactSynonym "west nile virus, susceptibility to", "wnv, susceptibility to" ; + skos:exactMatch UMLS:C1835867 ; biolink:category biolink:Disease . OMIM:610380 a owl:Class ; @@ -438200,20 +454890,20 @@ OMIM:610381 a owl:Class ; rdfs:label "cone-rod dystrophy 11" ; IAO:0000142 PMID:15028672, PMID:25789692 ; - oboInOwl:hasDbXref UMLS:C1835865 ; oboInOwl:hasExactSynonym "CORD11", "cone-rod dystrophy 11" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1835865 ; biolink:category biolink:Disease . OMIM:610419 a owl:Class ; rdfs:label "deafness, autosomal recessive 68" ; IAO:0000142 PMID:16703383, PMID:26805784 ; - oboInOwl:hasDbXref UMLS:C1835854 ; oboInOwl:hasExactSynonym "DFNB68", "deafness, autosomal recessive 68" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1835854 ; biolink:category biolink:Disease . OMIM:610420 a owl:Class ; @@ -438221,19 +454911,19 @@ OMIM:610420 a owl:Class ; IAO:0000142 PMID:16775710 ; RO:0002525 CHR:9606chr14q11.2-q12 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C1968893 ; oboInOwl:hasExactSynonym "preauricular tag, isolated, autosomal dominant, 1" ; + skos:exactMatch UMLS:C1968893 ; biolink:category biolink:Disease . OMIM:610422 a owl:Class ; rdfs:label "alopecia-intellectual disability syndrome 2" ; IAO:0000142 PMID:16922726 ; RO:0002525 CHR:9606chr3q26.2-q26.31 ; - oboInOwl:hasDbXref UMLS:C1835852 ; oboInOwl:hasExactSynonym "APMR2", "alopecia-intellectual disability syndrome 2", "alopecia-mental retardation syndrome 2" ; rdfs:subClassOf OMIMPS:203650 ; + skos:exactMatch UMLS:C1835852 ; biolink:category biolink:Disease . OMIM:610427 a owl:Class ; @@ -438245,22 +454935,22 @@ OMIM:610427 a owl:Class ; PMID:23242674, PMID:23714322, PMID:24332535 ; - oboInOwl:hasDbXref UMLS:C4041558, - ORPHA:215 ; oboInOwl:hasExactSynonym "CRSD", "cone-rod synaptic disorder, congenital nonprogressive", "night blindness, congenital stationary, iia 2b, formerly", "night blindness, congenital stationary, incomplete, autosomal recessive, formerly" ; + skos:exactMatch UMLS:C4041558, + ORPHA:215 ; biolink:category biolink:Disease . OMIM:610430 a owl:Class ; rdfs:label "macroglobulinemia, waldenstrom, susceptibility to, 2" ; IAO:0000142 PMID:16960805 ; RO:0002525 CHR:9606chr4q ; - oboInOwl:hasDbXref UMLS:C1864876 ; oboInOwl:hasExactSynonym "WM2", "macroglobulinemia, waldenstrom, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:153600 ; + skos:exactMatch UMLS:C1864876 ; biolink:category biolink:Disease . OMIM:610438 a owl:Class ; @@ -438272,10 +454962,10 @@ OMIM:610438 a owl:Class ; PMID:18032746, PMID:18660810 ; RO:0002525 CHR:9606chr9p24-p22 ; - oboInOwl:hasDbXref UMLS:C1864875 ; oboInOwl:hasExactSynonym "RLS3", "restless legs syndrome, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:102300 ; + skos:exactMatch UMLS:C1864875 ; biolink:category biolink:Disease . OMIM:610439 a owl:Class ; @@ -438283,10 +454973,10 @@ OMIM:610439 a owl:Class ; IAO:0000142 PMID:12764067, PMID:16960808 ; RO:0002525 CHR:9606chr2q33 ; - oboInOwl:hasDbXref UMLS:C1864874 ; oboInOwl:hasExactSynonym "RLS4", "restless legs syndrome, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:102300 ; + skos:exactMatch UMLS:C1864874 ; biolink:category biolink:Disease . OMIM:610442 a owl:Class ; @@ -438296,11 +454986,11 @@ OMIM:610442 a owl:Class ; PMID:7551156, PMID:8152878, PMID:8723082 ; - oboInOwl:hasDbXref UMLS:C1864872 ; oboInOwl:hasExactSynonym "SEMDG", "nans deficiency", "semd, genevieve iia", "spondyloepimetaphyseal dysplasia, genevieve iia" ; + skos:exactMatch UMLS:C1864872 ; biolink:category biolink:Disease . OMIM:610443 a owl:Class ; @@ -438324,14 +455014,14 @@ OMIM:610443 a owl:Class ; PMID:22751100, PMID:26306646, PMID:28440867 ; - oboInOwl:hasDbXref UMLS:C1864871, - ORPHA:363958, - ORPHA:96169 ; oboInOwl:hasExactSynonym "KDVS", "chromosome 17q21.31 deletion syndrome", "koolen-de vries syndrome", "microdeletion 17q21.31 syndrome" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C1864871, + ORPHA:363958, + ORPHA:96169 ; biolink:category biolink:Disease . OMIM:610455 a owl:Class ; @@ -438340,12 +455030,12 @@ OMIM:610455 a owl:Class ; PMID:16960814, PMID:18094730, PMID:3366131 ; - oboInOwl:hasDbXref UMLS:C1864861, - ORPHA:306658, - ORPHA:53715 ; oboInOwl:hasExactSynonym "NFTC", "calcinosis, tumoral, with normophosphatemia", "tumoral calcinosis, normophosphatemic, familial" ; + skos:exactMatch UMLS:C1864861, + ORPHA:306658, + ORPHA:53715 ; biolink:category biolink:Disease . OMIM:610460 a owl:Class ; @@ -438366,23 +455056,23 @@ OMIM:610460 a owl:Class ; PMID:8094196, PMID:8257179, PMID:9841604 ; - oboInOwl:hasDbXref UMLS:C0342801 ; oboInOwl:hasExactSynonym "THPM1", "thiopurine s-methyltransferase deficiency", "thiopurines, poor metabolism of, 1", "tpmt deficiency" ; rdfs:subClassOf OMIMPS:610460 ; + skos:exactMatch UMLS:C0342801 ; biolink:category biolink:Disease . OMIM:610475 a owl:Class ; rdfs:label "pigmented nodular adrenocortical disease, primary, 2" ; IAO:0000142 PMID:16767104 ; - oboInOwl:hasDbXref UMLS:C1864851 ; oboInOwl:hasExactSynonym "PPNAD2", "cushing syndrome, adrenal, due to ppnad2", "pigmented micronodular adrenocortical disease, primary, 2", "pigmented nodular adrenocortical disease, primary, 2" ; rdfs:subClassOf OMIMPS:610489 ; + skos:exactMatch UMLS:C1864851 ; biolink:category biolink:Disease . OMIM:610476 a owl:Class ; @@ -438394,13 +455084,13 @@ OMIM:610476 a owl:Class ; PMID:20172912, PMID:20197793, PMID:23863954 ; - oboInOwl:hasDbXref UMLS:C1864850, - UMLS:C4310824 ; oboInOwl:hasExactSynonym "ARVD11", "arrhythmogenic right ventricular cardiomyopathy 11", "arrhythmogenic right ventricular dysplasia, familial, 11", "arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C1864850, + UMLS:C4310824 ; biolink:category biolink:Disease . OMIM:610478 a owl:Class ; @@ -438408,9 +455098,9 @@ OMIM:610478 a owl:Class ; IAO:0000142 PMID:17033974, PMID:25356976, PMID:26560832 ; - oboInOwl:hasDbXref UMLS:C1864849 ; oboInOwl:hasExactSynonym "RCD4", "retinal cone dystrophy 4" ; + skos:exactMatch UMLS:C1864849 ; biolink:category biolink:Disease . OMIM:610489 a owl:Class ; @@ -438423,23 +455113,23 @@ OMIM:610489 a owl:Class ; PMID:579530, PMID:6329005, PMID:7307279 ; - oboInOwl:hasDbXref UMLS:C1864846 ; oboInOwl:hasExactSynonym "PPNAD1", "adrenocortical nodular dysplasia, primary", "cushing syndrome, adrenal, due to ppnad1", "pigmented micronodular adrenocortical disease, primary, 1", "pigmented nodular adrenocortical disease, primary, 1" ; rdfs:subClassOf OMIMPS:610489 ; + skos:exactMatch UMLS:C1864846 ; biolink:category biolink:Disease . OMIM:610498 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 2" ; IAO:0000142 PMID:15505824 ; - oboInOwl:hasDbXref UMLS:C1864843 ; oboInOwl:hasExactSynonym "COXPD2", "combined oxidative phosphorylation deficiency 2", "corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C1864843 ; biolink:category biolink:Disease . OMIM:610504 a owl:Class ; @@ -438451,9 +455141,9 @@ OMIM:610504 a owl:Class ; PMID:16938879, PMID:18178580, PMID:9849720 ; - oboInOwl:hasDbXref UMLS:C0729264 ; oboInOwl:hasExactSynonym "PPROM", "preterm premature rupture of the membranes" ; + skos:exactMatch UMLS:C0729264 ; biolink:category biolink:Disease . OMIM:610505 a owl:Class ; @@ -438462,20 +455152,20 @@ OMIM:610505 a owl:Class ; PMID:21119709, PMID:22499341, PMID:25037205 ; - oboInOwl:hasDbXref UMLS:C1864840 ; oboInOwl:hasExactSynonym "COXPD3", "combined oxidative phosphorylation deficiency 3", "concentric cardiomyopathy, hypotonia, and lactic acidosis", "encephalomyopathy, respiratory failure, and lactic acidosis" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C1864840 ; biolink:category biolink:Disease . OMIM:610508 a owl:Class ; rdfs:label "maturity-onset diabetes of the young, iia 7" ; IAO:0000142 PMID:15774581 ; - oboInOwl:hasDbXref UMLS:C1864839 ; oboInOwl:hasExactSynonym "MODY7", "maturity-onset diabetes of the young, iia 7" ; + skos:exactMatch UMLS:C1864839 ; biolink:category biolink:Disease . OMIM:610532 a owl:Class ; @@ -438484,11 +455174,11 @@ OMIM:610532 a owl:Class ; PMID:17683097, PMID:17928815, PMID:21911699 ; - oboInOwl:hasDbXref UMLS:C1864663 ; oboInOwl:hasExactSynonym "HLD5", "hypomyelination and congenital cataract: hcc", "leukodystrophy, hypomyelinating, 5" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C1864663 ; biolink:category biolink:Disease . OMIM:610535 a owl:Class ; @@ -438497,9 +455187,9 @@ OMIM:610535 a owl:Class ; PMID:16518310, PMID:17563728 ; RO:0002525 CHR:9606chr5q22.1-q32 ; - oboInOwl:hasDbXref UMLS:C1864653 ; oboInOwl:hasExactSynonym "GLC1M", "glaucoma 1, open angle, m" ; + skos:exactMatch UMLS:C1864653 ; biolink:category biolink:Disease . OMIM:610536 a owl:Class ; @@ -438516,11 +455206,11 @@ OMIM:610536 a owl:Class ; PMID:23188108, PMID:25790162, PMID:7586653 ; - oboInOwl:hasDbXref UMLS:C1864652 ; oboInOwl:hasExactSynonym "MFDGA", "growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate", "mandibulofacial dysostosis with microcephaly", "mandibulofacial dysostosis, guion-almeida iia" ; + skos:exactMatch UMLS:C1864652 ; biolink:category biolink:Disease . OMIM:610542 a owl:Class ; @@ -438534,12 +455224,12 @@ OMIM:610542 a owl:Class ; PMID:5910898, PMID:8664562, PMID:9140367 ; - oboInOwl:hasDbXref UMLS:C3552335 ; oboInOwl:hasExactSynonym "CMS12", "myasthenic syndrome, congenital, 12", "myasthenic syndrome, congenital, with tubular aggregates 1" ; rdfs:subClassOf OMIMPS:601462, OMIMPS:610542 ; + skos:exactMatch UMLS:C3552335 ; biolink:category biolink:Disease . OMIM:610551 a owl:Class ; @@ -438551,21 +455241,21 @@ OMIM:610551 a owl:Class ; PMID:6855821, PMID:7491057, PMID:8622435 ; - oboInOwl:hasDbXref UMLS:C2750180 ; oboInOwl:hasExactSynonym "IIAE1", "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1", "herpes simplex encephalitis, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:610551 ; + skos:exactMatch UMLS:C2750180 ; biolink:category biolink:Disease . OMIM:610599 a owl:Class ; rdfs:label "retinitis pigmentosa 36" ; IAO:0000142 PMID:16938425, PMID:20507925 ; - oboInOwl:hasDbXref UMLS:C1864621 ; oboInOwl:hasExactSynonym "RP36", "retinitis pigmentosa 36" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1864621 ; biolink:category biolink:Disease . OMIM:610612 a owl:Class ; @@ -438573,10 +455263,10 @@ OMIM:610612 a owl:Class ; IAO:0000142 PMID:17186464, PMID:22531706, PMID:23308101 ; - oboInOwl:hasDbXref UMLS:C1857743 ; oboInOwl:hasExactSynonym "LCA12", "leber congenital amaurosis 12" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C1857743 ; biolink:category biolink:Disease . OMIM:610618 a owl:Class ; @@ -438587,9 +455277,6 @@ OMIM:610618 a owl:Class ; PMID:16638441, PMID:17186468, PMID:19178938 ; - oboInOwl:hasDbXref UMLS:C1857728, - ORPHA:100054, - ORPHA:91378 ; oboInOwl:hasExactSynonym "HAE3", "angioedema, hereditary, iia 3", "angioedema, hereditary, 3", @@ -438599,6 +455286,9 @@ OMIM:610618 a owl:Class ; "hae with normal c1 inhibitor concentration and function", "hereditary angioedema with normal c1 inhibitor activity" ; rdfs:subClassOf OMIMPS:106100 ; + skos:exactMatch UMLS:C1857728, + ORPHA:100054, + ORPHA:91378 ; biolink:category biolink:Disease . OMIM:610623 a owl:Class ; @@ -438606,14 +455296,14 @@ OMIM:610623 a owl:Class ; IAO:0000142 PMID:15286169, PMID:16565358, PMID:9620774 ; - oboInOwl:hasDbXref UMLS:C1864567, - ORPHA:91492 ; oboInOwl:hasExactSynonym "CTRCT11", "cataract 11 with microphthalmia and neurodevelopmental abnormalities", "cataract 11, multiple types", "cataract, posterior polar, 4", "cpp4" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1864567, + ORPHA:91492 ; biolink:category biolink:Disease . OMIM:610628 a owl:Class ; @@ -438623,10 +455313,10 @@ OMIM:610628 a owl:Class ; PMID:17959774, PMID:18285834, PMID:18559922 ; - oboInOwl:hasDbXref UMLS:C3552343 ; oboInOwl:hasExactSynonym "HH4", "hypogonadotropic hypogonadism 4 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3552343 ; biolink:category biolink:Disease . OMIM:610629 a owl:Class ; @@ -438635,22 +455325,23 @@ OMIM:610629 a owl:Class ; PMID:17186470, PMID:18230666, PMID:23812780 ; - oboInOwl:hasDbXref UMLS:C1857719 ; oboInOwl:hasExactSynonym "DBA3", "diamond-blackfan anemia 3" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C1857719 ; biolink:category biolink:Disease . OMIM:610630 a owl:Class ; rdfs:label "PTPN20" ; IAO:0000142 PMID:15790311 ; - oboInOwl:hasDbXref UMLS:C1538750 ; oboInOwl:hasExactSynonym "PTPN20", "protein tyrosine phosphatase, nonreceptor-type, 20", "protein tyrosine phosphatase, nonreceptor-type, 20a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:26095 ; - skos:exactMatch HGNC_symbol:PTPN20 ; + skos:exactMatch UMLS:C1538750, + HGNC:23423, + HGNC_symbol:PTPN20 ; biolink:category biolink:Gene . OMIM:610644 a owl:Class ; @@ -438664,19 +455355,19 @@ OMIM:610644 a owl:Class ; PMID:17072299, PMID:18085567, PMID:8475082 ; - oboInOwl:hasDbXref UMLS:C2674504, - UMLS:C3149931 ; oboInOwl:hasExactSynonym "palmoplantar hyperkeratosis and true hermaphroditism", "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal" ; + skos:exactMatch UMLS:C2674504, + UMLS:C3149931 ; biolink:category biolink:Disease . OMIM:610649 a owl:Class ; rdfs:label "bone size quantitative trait locus 3" ; IAO:0000142 PMID:16825438 ; RO:0002525 CHR:9606chr8q24 ; - oboInOwl:hasDbXref UMLS:C1857711 ; oboInOwl:hasExactSynonym "bone size quantitative trait locus 3", "bszqtl3" ; + skos:exactMatch UMLS:C1857711 ; biolink:category biolink:Disease . OMIM:610651 a owl:Class ; @@ -438690,23 +455381,23 @@ OMIM:610651 a owl:Class ; PMID:8304337, PMID:8408834, PMID:8663148 ; - oboInOwl:hasDbXref UMLS:C0268136, - UMLS:C1970808 ; oboInOwl:hasExactSynonym "XPB", "xeroderma pigmentosum b/cockayne syndrome", "xeroderma pigmentosum, complementation group B", "xp, group B", "xpb/cs" ; + skos:exactMatch UMLS:C0268136, + UMLS:C1970808 ; biolink:category biolink:Disease . OMIM:610655 a owl:Class ; rdfs:label "telangiectasia, hereditary hemorrhagic, iia 4" ; IAO:0000142 PMID:16969873 ; RO:0002525 CHR:9606chr7p14 ; - oboInOwl:hasDbXref UMLS:C1857688 ; oboInOwl:hasExactSynonym "HHT4", "telangiectasia, hereditary hemorrhagic, iia 4" ; rdfs:subClassOf OMIMPS:187300 ; + skos:exactMatch UMLS:C1857688 ; biolink:category biolink:Disease . OMIM:610676 a owl:Class ; @@ -438720,20 +455411,20 @@ OMIM:610676 a owl:Class ; PMID:21102624, PMID:8655659 ; RO:0002525 CHR:9606chr17q21 ; - oboInOwl:hasDbXref UMLS:C1970807 ; oboInOwl:hasExactSynonym "AUTS7", "autism, susceptibility to, 7" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1970807 ; biolink:category biolink:Disease . OMIM:610678 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 4" ; IAO:0000142 PMID:17160893, PMID:26741492 ; - oboInOwl:hasDbXref UMLS:C1857682 ; oboInOwl:hasExactSynonym "COXPD4", "combined oxidative phosphorylation deficiency 4" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C1857682 ; biolink:category biolink:Disease . OMIM:610685 a owl:Class ; @@ -438742,20 +455433,20 @@ OMIM:610685 a owl:Class ; PMID:7802032, PMID:7825599 ; RO:0002525 CHR:9606chr6q14.1 ; - oboInOwl:hasDbXref UMLS:C1853156 ; oboInOwl:hasExactSynonym "SHFLD2", "split-hand/foot malformation with long bone deficiency 2" ; + skos:exactMatch UMLS:C1853156 ; biolink:category biolink:Disease . OMIM:610687 a owl:Class ; rdfs:label "nemaline myopathy 7" ; IAO:0000142 PMID:17160903, PMID:22560515 ; - oboInOwl:hasDbXref UMLS:C1853154, - ORPHA:171436 ; oboInOwl:hasExactSynonym "NEM7", "nemaline myopathy 7" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C1853154, + ORPHA:171436 ; biolink:category biolink:Disease . OMIM:610698 a owl:Class ; @@ -438781,10 +455472,10 @@ OMIM:610698 a owl:Class ; PMID:23455636, PMID:24906858, PMID:26354764 ; - oboInOwl:hasDbXref UMLS:C1853147 ; oboInOwl:hasExactSynonym "ARMD4", "macular degeneration, age-related, 4" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C1853147 ; biolink:category biolink:Disease . OMIM:610706 a owl:Class ; @@ -438794,10 +455485,10 @@ OMIM:610706 a owl:Class ; PMID:18701883, PMID:2044484, PMID:21480479 ; - oboInOwl:hasDbXref UMLS:C1853144 ; oboInOwl:hasExactSynonym "deafness with lamm", "deafness, congenital, with inner ear agenesis, microtia, and microdontia", "deafness, congenital, with labyrinthine aplasia, microtia, and microdontia" ; + skos:exactMatch UMLS:C1853144 ; biolink:category biolink:Disease . OMIM:610707 a owl:Class ; @@ -438808,20 +455499,20 @@ OMIM:610707 a owl:Class ; PMID:12930309, PMID:9259283 ; RO:0002525 CHR:9606chr16q ; - oboInOwl:hasDbXref UMLS:C1853143 ; oboInOwl:hasExactSynonym "PSORS8", "psoriasis 8, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C1853143 ; biolink:category biolink:Disease . OMIM:610708 a owl:Class ; rdfs:label "optic atrophy 5" ; IAO:0000142 PMID:15635063, PMID:28969390 ; - oboInOwl:hasDbXref UMLS:C1853139 ; oboInOwl:hasExactSynonym "OPA5", "optic atrophy 5" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C1853139 ; biolink:category biolink:Disease . OMIM:610717 a owl:Class ; @@ -438831,10 +455522,10 @@ OMIM:610717 a owl:Class ; PMID:21544567, PMID:22832386, PMID:23232698 ; - oboInOwl:hasDbXref UMLS:C1853136 ; oboInOwl:hasExactSynonym "NLSDM", "neutral lipid storage disease with myopathy", "neutral lipid storage disease without ichthyosis" ; + skos:exactMatch UMLS:C1853136 ; biolink:category biolink:Disease . OMIM:610725 a owl:Class ; @@ -438843,11 +455534,11 @@ OMIM:610725 a owl:Class ; PMID:18065803, PMID:18270750, PMID:20591883 ; - oboInOwl:hasDbXref UMLS:C1853124 ; oboInOwl:hasExactSynonym "NPHS3", "nephrotic syndrome, iia 3", "nephrotic syndrome, early-onset, iia 3" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C1853124 ; biolink:category biolink:Disease . OMIM:610738 a owl:Class ; @@ -438870,12 +455561,12 @@ OMIM:610738 a owl:Class ; PMID:7542747, PMID:7803247, PMID:7918030 ; - oboInOwl:hasDbXref UMLS:C1853118 ; oboInOwl:hasExactSynonym "SCN3", "agranulocytosis, infantile", "kostmann disease", "neutropenia, severe congenital, 3, autosomal recessive" ; rdfs:subClassOf OMIMPS:202700 ; + skos:exactMatch UMLS:C1853118 ; biolink:category biolink:Disease . OMIM:610743 a owl:Class ; @@ -438884,23 +455575,23 @@ OMIM:610743 a owl:Class ; PMID:17503513, PMID:23325900, PMID:27086870 ; - oboInOwl:hasDbXref UMLS:C1853116, - ORPHA:88644 ; oboInOwl:hasExactSynonym "SCAR8", "ataxia, recessive, of beauce", "cerebellar ataxia, autosomal recessive, iia 1", "spinocerebellar ataxia, autosomal recessive 8" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C1853116, + ORPHA:88644 ; biolink:category biolink:Disease . OMIM:610753 a owl:Class ; rdfs:label "alopecia areata 2" ; IAO:0000142 PMID:17236136 ; RO:0002525 CHR:9606chr16q11-q22 ; - oboInOwl:hasDbXref UMLS:C1853104 ; oboInOwl:hasExactSynonym "AA2", "alopecia areata 2" ; rdfs:subClassOf OMIMPS:203655 ; + skos:exactMatch UMLS:C1853104 ; biolink:category biolink:Disease . OMIM:610755 a owl:Class ; @@ -438912,20 +455603,20 @@ OMIM:610755 a owl:Class ; PMID:22129891, PMID:23555276, PMID:24819502 ; - oboInOwl:hasDbXref UMLS:C1970712 ; oboInOwl:hasExactSynonym "MEN4", "multiple endocrine neoplasia, iia 4" ; rdfs:subClassOf OMIMPS:131100 ; + skos:exactMatch UMLS:C1970712 ; biolink:category biolink:Disease . OMIM:610758 a owl:Class ; rdfs:label "cerebrooculofacioskeletal syndrome 4" ; IAO:0000142 PMID:17273966, PMID:23623389 ; - oboInOwl:hasDbXref UMLS:C1853100 ; oboInOwl:hasExactSynonym "COFS4", "cerebrooculofacioskeletal syndrome 4" ; rdfs:subClassOf OMIMPS:214150 ; + skos:exactMatch UMLS:C1853100 ; biolink:category biolink:Disease . OMIM:610759 a owl:Class ; @@ -438934,29 +455625,29 @@ OMIM:610759 a owl:Class ; PMID:25125236, PMID:25655089, PMID:31334757 ; - oboInOwl:hasDbXref UMLS:C1853099, - ORPHA:199 ; oboInOwl:hasExactSynonym "CDLS3", "cornelia lange lange syndrome 3 with or without midline brain defects" ; rdfs:subClassOf OMIMPS:122470 ; + skos:exactMatch UMLS:C1853099, + ORPHA:199 ; biolink:category biolink:Disease . OMIM:610760 a owl:Class ; rdfs:label "cholesterol level quantitative trait locus 2" ; IAO:0000142 PMID:16868761 ; RO:0002525 CHR:9606chr2p24-p22 ; - oboInOwl:hasDbXref UMLS:C1853098 ; oboInOwl:hasExactSynonym "cholesterol level quantitative trait locus 2", "clqtl2" ; + skos:exactMatch UMLS:C1853098 ; biolink:category biolink:Disease . OMIM:610761 a owl:Class ; rdfs:label "high density lipoprotein cholesterol level quantitative trait locus 5" ; IAO:0000142 PMID:16868761 ; RO:0002525 CHR:9606chr3q24-q26 ; - oboInOwl:hasDbXref UMLS:C1853097 ; oboInOwl:hasExactSynonym "hdlcq5", "high density lipoprotein cholesterol level quantitative trait locus 5" ; + skos:exactMatch UMLS:C1853097 ; biolink:category biolink:Disease . OMIM:610762 a owl:Class ; @@ -438969,9 +455660,9 @@ OMIM:610762 a owl:Class ; PMID:21480869, PMID:21909109, PMID:26965621 ; - oboInOwl:hasDbXref UMLS:C1853096 ; oboInOwl:hasExactSynonym "HDLCQ6", "high density lipoprotein cholesterol level quantitative trait locus 6" ; + skos:exactMatch UMLS:C1853096 ; biolink:category biolink:Disease . OMIM:610768 a owl:Class ; @@ -438979,13 +455670,13 @@ OMIM:610768 a owl:Class ; IAO:0000142 PMID:17273964, PMID:22242004, PMID:23890587 ; - oboInOwl:hasDbXref UMLS:C1835849 ; oboInOwl:hasExactSynonym "CDG1M", "cdg im", "congenital disorder of glycosylation, iia im", "dk1 deficiency", "dolichol kinase deficiency" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C1835849 ; biolink:category biolink:Disease . OMIM:610773 a owl:Class ; @@ -438993,18 +455684,18 @@ OMIM:610773 a owl:Class ; IAO:0000142 PMID:17273968, PMID:21763135, PMID:25681081 ; - oboInOwl:hasDbXref UMLS:C1835845, - ORPHA:91130 ; oboInOwl:hasExactSynonym "MPCD", "mitochondrial phosphate carrier deficiency", "neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis" ; + skos:exactMatch UMLS:C1835845, + ORPHA:91130 ; biolink:category biolink:Disease . OMIM:610798 a owl:Class ; rdfs:label "immunodeficiency due to defect 1n mapbp-interacting protein" ; IAO:0000142 PMID:17195838 ; - oboInOwl:hasDbXref UMLS:C1835829 ; oboInOwl:hasExactSynonym "immunodeficiency due to defect 1n mapbp-interacting protein" ; + skos:exactMatch UMLS:C1835829 ; biolink:category biolink:Disease . OMIM:610828 a owl:Class ; @@ -439015,10 +455706,10 @@ OMIM:610828 a owl:Class ; PMID:17985375, PMID:18830227, PMID:2688166 ; - oboInOwl:hasDbXref UMLS:C1835820 ; oboInOwl:hasExactSynonym "HPE7", "holoprosencephaly 7" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C1835820 ; biolink:category biolink:Disease . OMIM:610829 a owl:Class ; @@ -439029,12 +455720,12 @@ OMIM:610829 a owl:Class ; PMID:17096318, PMID:18049080, PMID:21204792 ; - oboInOwl:hasDbXref UMLS:C1835819 ; oboInOwl:hasExactSynonym "HPE9", "holoprosencephaly 9", "holoprosencephaly with microphthalmia and first branchial arch anomalies", "pituitary anomalies with holoprosencephaly-like features" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C1835819 ; biolink:category biolink:Disease . OMIM:610836 a owl:Class ; @@ -439047,10 +455738,10 @@ OMIM:610836 a owl:Class ; PMID:18698615, PMID:8655659 ; RO:0002525 CHR:9606chr1q41-q42 ; - oboInOwl:hasDbXref UMLS:C1970512 ; oboInOwl:hasExactSynonym "AUTS11", "autism, susceptibility to, 11" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1970512 ; biolink:category biolink:Disease . OMIM:610838 a owl:Class ; @@ -439061,10 +455752,10 @@ OMIM:610838 a owl:Class ; PMID:18698615, PMID:8655659 ; RO:0002525 CHR:9606chr21p13-q11 ; - oboInOwl:hasDbXref UMLS:C1970511 ; oboInOwl:hasExactSynonym "AUTS12", "autism, susceptibility to, 12" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1970511 ; biolink:category biolink:Disease . OMIM:610839 a owl:Class ; @@ -439072,19 +455763,19 @@ OMIM:610839 a owl:Class ; IAO:0000142 PMID:16912703, PMID:9429149 ; RO:0002525 CHR:9606chr2q33.3 ; - oboInOwl:hasDbXref UMLS:C1835815 ; oboInOwl:hasExactSynonym "OS4", "osteoarthritis susceptibility 4", "osteoarthritis, generalized, without dysplasia" ; + skos:exactMatch UMLS:C1835815 ; biolink:category biolink:Disease . OMIM:610852 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 6" ; IAO:0000142 PMID:17360648 ; - oboInOwl:hasDbXref UMLS:C1970506 ; oboInOwl:hasExactSynonym "CILD6", "ciliary dyskinesia, primary, 6" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C1970506 ; biolink:category biolink:Disease . OMIM:610873 a owl:Class ; @@ -439092,18 +455783,18 @@ OMIM:610873 a owl:Class ; IAO:0000142 PMID:16394082, PMID:25231870 ; RO:0002525 CHR:9606chr22q13 ; - oboInOwl:hasDbXref UMLS:C1970484 ; oboInOwl:hasExactSynonym "MENAQ1", "menarche, age at, quantitative trait locus 1" ; + skos:exactMatch UMLS:C1970484 ; biolink:category biolink:Disease . OMIM:610878 a owl:Class ; rdfs:label "vesicoureteral reflux 2" ; IAO:0000142 PMID:17357069 ; - oboInOwl:hasDbXref UMLS:C1970483 ; oboInOwl:hasExactSynonym "VUR2", "vesicoureteral reflux 2" ; rdfs:subClassOf OMIMPS:193000 ; + skos:exactMatch UMLS:C1970483 ; biolink:category biolink:Disease . OMIM:610896 a owl:Class ; @@ -439111,9 +455802,9 @@ OMIM:610896 a owl:Class ; IAO:0000142 PMID:14704431, PMID:17357085, PMID:21280147 ; - oboInOwl:hasDbXref UMLS:C1970479 ; oboInOwl:hasExactSynonym "BOR2", "branchiootorenal syndrome 2" ; + skos:exactMatch UMLS:C1970479 ; biolink:category biolink:Disease . OMIM:610898 a owl:Class ; @@ -439121,9 +455812,9 @@ OMIM:610898 a owl:Class ; IAO:0000142 PMID:17357082 ; RO:0002525 CHR:9606chr11p12-p11 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C1970476 ; oboInOwl:hasExactSynonym "PSNP3", "supranuclear palsy, progressive, 3" ; + skos:exactMatch UMLS:C1970476 ; biolink:category biolink:Disease . OMIM:610906 a owl:Class ; @@ -439131,10 +455822,10 @@ OMIM:610906 a owl:Class ; IAO:0000142 PMID:12065182, PMID:17310125 ; RO:0002525 CHR:9606chr1p31 ; - oboInOwl:hasDbXref UMLS:C1970474 ; oboInOwl:hasExactSynonym "asrt4", "asthma and allergic rhinitis, susceptibility to", "asthma-related traits, susceptibility to, 4" ; + skos:exactMatch UMLS:C1970474 ; biolink:category biolink:Disease . OMIM:610908 a owl:Class ; @@ -439145,10 +455836,10 @@ OMIM:610908 a owl:Class ; PMID:18698615, PMID:8655659 ; RO:0002525 CHR:9606chr12q14.2 ; - oboInOwl:hasDbXref UMLS:C1970473 ; oboInOwl:hasExactSynonym "AUTS13", "autism, susceptibility to, 13" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C1970473 ; biolink:category biolink:Disease . OMIM:610913 a owl:Class ; @@ -439166,13 +455857,13 @@ OMIM:610913 a owl:Class ; PMID:19443464, PMID:5942662, PMID:8662952 ; - oboInOwl:hasDbXref UMLS:C1970470 ; oboInOwl:hasExactSynonym "SMDP2", "desquamative interstitial pneumonitis due to surfactant protein c deficiency", "interstitial lung disease due to surfactant protein c deficiency", "pulmonary alveolar proteinosis, congenital, 2", "surfactant metabolism dysfunction, pulmonary, 2" ; rdfs:subClassOf OMIMPS:265120 ; + skos:exactMatch UMLS:C1970470 ; biolink:category biolink:Disease . OMIM:610915 a owl:Class ; @@ -439183,11 +455874,11 @@ OMIM:610915 a owl:Class ; PMID:3425600, PMID:458828, PMID:8100856 ; - oboInOwl:hasDbXref UMLS:C1970458 ; oboInOwl:hasExactSynonym "OI8", "oi, iia 8", "osteogenesis imperfecta, iia 8" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C1970458 ; biolink:category biolink:Disease . OMIM:610921 a owl:Class ; @@ -439197,12 +455888,12 @@ OMIM:610921 a owl:Class ; PMID:17719949, PMID:18317237, PMID:22434821 ; - oboInOwl:hasDbXref UMLS:C1970456 ; oboInOwl:hasExactSynonym "SMDP3", "interstitial lung disease due to abca3 deficiency", "pulmonary alveolar proteinosis, congenital, 3", "surfactant metabolism dysfunction, pulmonary, 3" ; rdfs:subClassOf OMIMPS:265120 ; + skos:exactMatch UMLS:C1970456 ; biolink:category biolink:Disease . OMIM:610926 a owl:Class ; @@ -439211,38 +455902,38 @@ OMIM:610926 a owl:Class ; PMID:11669481 ; RO:0002525 CHR:9606chr10q11.2-q21 ; RO:0003303 OMIM:5 ; - oboInOwl:hasDbXref UMLS:C1858210 ; oboInOwl:hasExactSynonym "STHAG5", "he-zhao deficiency", "hypodontia/oligodontia 5", "tooth agenesis, selective, 5" ; rdfs:subClassOf OMIMPS:106600 ; + skos:exactMatch UMLS:C1858210 ; biolink:category biolink:Disease . OMIM:610927 a owl:Class ; rdfs:label "systemic lupus erythematosus, susceptibility to, 9" ; IAO:0000142 PMID:17360460 ; - oboInOwl:hasDbXref UMLS:C1970455 ; oboInOwl:hasExactSynonym "SLEB9", "systemic lupus erythematosus, susceptibility to, 9" ; + skos:exactMatch UMLS:C1970455 ; biolink:category biolink:Disease . OMIM:610947 a owl:Class ; rdfs:label "coronary artery disease, autosomal dominant 2" ; IAO:0000142 PMID:17332414, PMID:23703864 ; - oboInOwl:hasDbXref UMLS:C1970440 ; oboInOwl:hasExactSynonym "ADCAD2", "coronary artery disease, autosomal dominant 2" ; + skos:exactMatch UMLS:C1970440 ; biolink:category biolink:Disease . OMIM:610948 a owl:Class ; rdfs:label "hypertension, essential, susceptibility to, 7" ; IAO:0000142 PMID:15294874 ; RO:0002525 CHR:9606chr3p14.1-q12.3 ; - oboInOwl:hasDbXref UMLS:C1970439 ; oboInOwl:hasExactSynonym "hypertension, essential, susceptibility to, 7", "hyt7" ; + skos:exactMatch UMLS:C1970439 ; biolink:category biolink:Disease . OMIM:610954 a owl:Class ; @@ -439262,12 +455953,12 @@ OMIM:610954 a owl:Class ; PMID:728011, PMID:8489799, PMID:9475596 ; - oboInOwl:hasDbXref UMLS:C1970431, - ORPHA:2896 ; oboInOwl:hasExactSynonym "PTHS", "encephalopathy, severe epileptic, with autonomic dysfunction", "mental retardation, syndromal, with intermittent hyperventilation", "pitt-hopkins syndrome" ; + skos:exactMatch UMLS:C1970431, + ORPHA:2896 ; biolink:category biolink:Disease . OMIM:610967 a owl:Class ; @@ -439285,11 +455976,11 @@ OMIM:610967 a owl:Class ; PMID:24674092, PMID:25251575, PMID:458828 ; - oboInOwl:hasDbXref UMLS:C2931093 ; oboInOwl:hasExactSynonym "OI5", "oi, iia 5", "osteogenesis imperfecta, iia 5" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C2931093 ; biolink:category biolink:Disease . OMIM:610968 a owl:Class ; @@ -439299,11 +455990,11 @@ OMIM:610968 a owl:Class ; PMID:20839288, PMID:22107750, PMID:22718341 ; - oboInOwl:hasDbXref UMLS:C3151218 ; oboInOwl:hasExactSynonym "OI11", "oi, iia 11", "osteogenesis imperfecta, iia 11" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C3151218 ; biolink:category biolink:Disease . OMIM:610997 a owl:Class ; @@ -439313,9 +456004,9 @@ OMIM:610997 a owl:Class ; PMID:22236224, PMID:24390282 ; RO:0002525 CHR:9606chr17q21-q22 ; - oboInOwl:hasDbXref UMLS:C1970250 ; oboInOwl:hasExactSynonym "HPC9", "prostate cancer, hereditary, 9" ; + skos:exactMatch UMLS:C1970250 ; biolink:category biolink:Disease . OMIM:611003 a owl:Class ; @@ -439326,18 +456017,18 @@ OMIM:611003 a owl:Class ; PMID:20418889, PMID:20418890 ; RO:0002525 CHR:9606chr10q22 ; - oboInOwl:hasDbXref UMLS:C1970249 ; oboInOwl:hasExactSynonym "SQTL1", "smoking as a quantitative trait locus 1" ; + skos:exactMatch UMLS:C1970249 ; biolink:category biolink:Disease . OMIM:611004 a owl:Class ; rdfs:label "smoking as a quantitative trait locus 2" ; IAO:0000142 PMID:17436240 ; RO:0002525 CHR:9606chr22q12 ; - oboInOwl:hasDbXref UMLS:C1970248 ; oboInOwl:hasExactSynonym "SQTL2", "smoking as a quantitative trait locus 2" ; + skos:exactMatch UMLS:C1970248 ; biolink:category biolink:Disease . OMIM:611010 a owl:Class ; @@ -439345,31 +456036,31 @@ OMIM:611010 a owl:Class ; IAO:0000142 PMID:17075716 ; RO:0002525 CHR:9606chr11p15 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C1970245 ; oboInOwl:hasExactSynonym "GINGF4", "fibromatosis, gingival, 4", "fibromatosis, gingival, hereditary, 4", "ggf4" ; rdfs:subClassOf OMIMPS:135300 ; + skos:exactMatch UMLS:C1970245 ; biolink:category biolink:Disease . OMIM:611014 a owl:Class ; rdfs:label "hypertension, essential, susceptibility to, 8" ; IAO:0000142 PMID:17015768 ; RO:0002525 CHR:9606chr18q21.2 ; - oboInOwl:hasDbXref UMLS:C1970244 ; oboInOwl:hasExactSynonym "HYT8", "hypertension, essential, susceptibility to, 8" ; + skos:exactMatch UMLS:C1970244 ; biolink:category biolink:Disease . OMIM:611022 a owl:Class ; rdfs:label "deafness, autosomal recessive 24" ; IAO:0000142 PMID:17226784, PMID:19215054 ; - oboInOwl:hasDbXref UMLS:C1970239 ; oboInOwl:hasExactSynonym "DFNB24", "deafness, autosomal recessive 24" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1970239 ; biolink:category biolink:Disease . OMIM:611031 a owl:Class ; @@ -439379,12 +456070,12 @@ OMIM:611031 a owl:Class ; PMID:11004121, PMID:12210861 ; RO:0002525 CHR:9606chr16q13-q22.1 ; - oboInOwl:hasDbXref UMLS:C1970238 ; oboInOwl:hasExactSynonym "EKD2", "dystonia 19", "episodic kinesigenic dyskinesia 2" ; rdfs:subClassOf OMIMPS:128100, OMIMPS:128200 ; + skos:exactMatch UMLS:C1970238 ; biolink:category biolink:Disease . OMIM:611038 a owl:Class ; @@ -439394,19 +456085,19 @@ OMIM:611038 a owl:Class ; PMID:15389708, PMID:15988238, PMID:18783408 ; - oboInOwl:hasDbXref UMLS:C1970237 ; oboInOwl:hasExactSynonym "MCOP3", "microphthalmia, isolated 3" ; rdfs:subClassOf OMIMPS:251600 ; + skos:exactMatch UMLS:C1970237 ; biolink:category biolink:Disease . OMIM:611046 a owl:Class ; rdfs:label "mycobacterium tuberculosis, susceptibility to, 2" ; IAO:0000142 PMID:23415668 ; RO:0002525 CHR:9606chr8q12-q13 ; - oboInOwl:hasDbXref UMLS:C1970235 ; oboInOwl:hasExactSynonym "mtbs2", "mycobacterium tuberculosis, susceptibility to, 2" ; + skos:exactMatch UMLS:C1970235 ; biolink:category biolink:Disease . OMIM:611064 a owl:Class ; @@ -439417,28 +456108,28 @@ OMIM:611064 a owl:Class ; PMID:16391567, PMID:17024367, PMID:17503328 ; - oboInOwl:hasDbXref UMLS:C1970224 ; oboInOwl:hasExactSynonym "asrt5", "asthma-related traits, susceptibility to, 5" ; + skos:exactMatch UMLS:C1970224 ; biolink:category biolink:Disease . OMIM:611067 a owl:Class ; rdfs:label "spinal muscular atrophy, distal, autosomal recessive, 4" ; IAO:0000142 PMID:16728649, PMID:17564964 ; - oboInOwl:hasDbXref UMLS:C1970211 ; oboInOwl:hasExactSynonym "DSMA4", "spinal muscular atrophy, distal, autosomal recessive, 4" ; + skos:exactMatch UMLS:C1970211 ; biolink:category biolink:Disease . OMIM:611073 a owl:Class ; rdfs:label "alzheimer disease 12" ; IAO:0000142 PMID:16825432 ; RO:0002525 CHR:9606chr8p12-q22 ; - oboInOwl:hasDbXref UMLS:C1970209 ; oboInOwl:hasExactSynonym "ad12", "alzheimer disease 12", "alzheimer disease, familial, 12" ; + skos:exactMatch UMLS:C1970209 ; biolink:category biolink:Disease . OMIM:611081 a owl:Class ; @@ -439455,20 +456146,20 @@ OMIM:611081 a owl:Class ; PMID:19337756, PMID:24553140, PMID:28751470 ; - oboInOwl:hasDbXref UMLS:C1970207 ; oboInOwl:hasExactSynonym "IBD10", "inflammatory bowel disease (crohn disease) 10" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C1970207 ; biolink:category biolink:Disease . OMIM:611087 a owl:Class ; rdfs:label "polyhydramnios, megalencephaly, and symptomatic epilepsy" ; IAO:0000142 PMID:17522105, PMID:27170158 ; - oboInOwl:hasDbXref UMLS:C1970203 ; oboInOwl:hasExactSynonym "PMSE", "pmse syndrome", "polyhydramnios, megalencephaly, and symptomatic epilepsy" ; + skos:exactMatch UMLS:C1970203 ; biolink:category biolink:Disease . OMIM:611090 a owl:Class ; @@ -439477,10 +456168,10 @@ OMIM:611090 a owl:Class ; PMID:17309643, PMID:21907012, PMID:32666583 ; - oboInOwl:hasDbXref UMLS:C1970200 ; oboInOwl:hasExactSynonym "MRT12", "intellectual developmental disorder, autosomal recessive 12" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1970200 ; biolink:category biolink:Disease . OMIM:611091 a owl:Class ; @@ -439490,11 +456181,11 @@ OMIM:611091 a owl:Class ; PMID:22541559, PMID:22541562, PMID:22577224 ; - oboInOwl:hasDbXref UMLS:C1970199 ; oboInOwl:hasExactSynonym "MRT5", "intellectual developmental disorder, autosomal recessive 5", "mental retardation, autosomal recessive 5" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1970199 ; biolink:category biolink:Disease . OMIM:611093 a owl:Class ; @@ -439504,13 +456195,13 @@ OMIM:611093 a owl:Class ; PMID:18455129, PMID:21739581, PMID:27148795 ; - oboInOwl:hasDbXref UMLS:C1970197 ; oboInOwl:hasExactSynonym "MRT7", "intellectual developmental disorder 22", "intellectual developmental disorder, autosomal recessive 7", "mental retardation, autosomal recessive 22", "mental retardation, autosomal recessive 7" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1970197 ; biolink:category biolink:Disease . OMIM:611095 a owl:Class ; @@ -439518,13 +456209,13 @@ OMIM:611095 a owl:Class ; IAO:0000142 PMID:17120046, PMID:21629298 ; RO:0002525 CHR:9606chr14q11.2-q12 ; - oboInOwl:hasDbXref UMLS:C1970195 ; oboInOwl:hasExactSynonym "MRT9", "intellectual developmental disorder, autosomal recessive 26", "intellectual developmental disorder, autosomal recessive 9", "mental retardation, autosomal recessive 26", "mental retardation, autosomal recessive 9" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1970195 ; biolink:category biolink:Disease . OMIM:611096 a owl:Class ; @@ -439532,13 +456223,13 @@ OMIM:611096 a owl:Class ; IAO:0000142 PMID:17120046, PMID:21629298 ; RO:0002525 CHR:9606chr16p12.2-q12.1 ; - oboInOwl:hasDbXref UMLS:C1970194 ; oboInOwl:hasExactSynonym "MRT10", "intellectual developmental disorder, autosomal recessive 10", "intellectual developmental disorder, autosomal recessive 20", "mental retardation, autosomal recessive 10", "mental retardation, autosomal recessive 20" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1970194 ; biolink:category biolink:Disease . OMIM:611097 a owl:Class ; @@ -439546,11 +456237,11 @@ OMIM:611097 a owl:Class ; IAO:0000142 PMID:17120046, PMID:21063731 ; RO:0002525 CHR:9606chr19q13.2-q13.3 ; - oboInOwl:hasDbXref UMLS:C1970193 ; oboInOwl:hasExactSynonym "MRT11", "intellectual developmental disorder, autosomal recessive 11", "mental retardation, autosomal recessive 11" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1970193 ; biolink:category biolink:Disease . OMIM:611100 a owl:Class ; @@ -439573,9 +456264,9 @@ OMIM:611100 a owl:Class ; PMID:23104005, PMID:24581739 ; RO:0002525 CHR:9606chr8q24 ; - oboInOwl:hasDbXref UMLS:C1970192 ; oboInOwl:hasExactSynonym "HPC10", "prostate cancer, hereditary, 10" ; + skos:exactMatch UMLS:C1970192 ; biolink:category biolink:Disease . OMIM:611105 a owl:Class ; @@ -439587,21 +456278,21 @@ OMIM:611105 a owl:Class ; PMID:19592391, PMID:21749991, PMID:21815884 ; - oboInOwl:hasDbXref UMLS:C1970180 ; oboInOwl:hasExactSynonym "LBSL", "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation", "mitochondrial aspartyl-trna synthetase deficiency" ; + skos:exactMatch UMLS:C1970180 ; biolink:category biolink:Disease . OMIM:611107 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 4" ; IAO:0000142 PMID:17309643 ; RO:0002525 CHR:9606chr1p21.1-p13.3 ; - oboInOwl:hasDbXref UMLS:C1970179 ; oboInOwl:hasExactSynonym "MRT4", "intellectual developmental disorder, autosomal recessive 4", "mental retardation, autosomal recessive 4" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C1970179 ; biolink:category biolink:Disease . OMIM:611109 a owl:Class ; @@ -439609,9 +456300,9 @@ OMIM:611109 a owl:Class ; IAO:0000142 PMID:17342154, PMID:8614203 ; RO:0002525 CHR:9606chr4q32.3 ; - oboInOwl:hasDbXref UMLS:C1970178 ; oboInOwl:hasExactSynonym "cinn", "cinnamon odor, pleasantness of" ; + skos:exactMatch UMLS:C1970178 ; biolink:category biolink:Disease . OMIM:611126 a owl:Class ; @@ -439621,13 +456312,13 @@ OMIM:611126 a owl:Class ; PMID:22499348, PMID:25721401, PMID:27233227 ; - oboInOwl:hasDbXref UMLS:C4747517 ; oboInOwl:hasExactSynonym "MC1DN20", "acad9 deficiency", "acyl-coa dehydrogenase 9 deficiency", "mitochondrial complex 1 deficiency due to acad9 deficiency", "mitochondrial complex 1 deficiency, nuclear iia 20" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4747517 ; biolink:category biolink:Disease . OMIM:611131 a owl:Class ; @@ -439636,10 +456327,10 @@ OMIM:611131 a owl:Class ; PMID:17564971, PMID:18294254, PMID:22605927 ; - oboInOwl:hasDbXref UMLS:C1970163 ; oboInOwl:hasExactSynonym "RP37", "retinitis pigmentosa 37" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1970163 ; biolink:category biolink:Disease . OMIM:611136 a owl:Class ; @@ -439647,9 +456338,6 @@ OMIM:611136 a owl:Class ; IAO:0000142 PMID:11992121, PMID:16718694, PMID:21714819 ; - oboInOwl:hasDbXref UMLS:C1970160, - UMLS:C2749942, - UMLS:C4013473 ; oboInOwl:hasExactSynonym "EIG13", "epilepsy, childhood absence, susceptibility to, 4", "epilepsy, idiopathic generalized, susceptibility to, 13", @@ -439657,6 +456345,9 @@ OMIM:611136 a owl:Class ; rdfs:subClassOf OMIMPS:254770, OMIMPS:600131, OMIMPS:600669 ; + skos:exactMatch UMLS:C1970160, + UMLS:C2749942, + UMLS:C4013473 ; biolink:category biolink:Disease . OMIM:611139 a owl:Class ; @@ -439671,20 +456362,20 @@ OMIM:611139 a owl:Class ; PMID:20173736, PMID:21307941 ; RO:0002525 CHR:9606chr9p21 ; - oboInOwl:hasDbXref UMLS:C1970158 ; oboInOwl:hasExactSynonym "CHDS8", "coronary heart disease, susceptibility to, 8" ; + skos:exactMatch UMLS:C1970158 ; biolink:category biolink:Disease . OMIM:611147 a owl:Class ; rdfs:label "paroxysmal nonkinesigenic dyskinesia 2" ; IAO:0000142 PMID:16717228 ; RO:0002525 CHR:9606chr2q31 ; - oboInOwl:hasDbXref UMLS:C1970149 ; oboInOwl:hasExactSynonym "PNKD2", "dystonia 20", "paroxysmal nonkinesigenic dyskinesia 2" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1970149 ; biolink:category biolink:Disease . OMIM:611152 a owl:Class ; @@ -439695,9 +456386,9 @@ OMIM:611152 a owl:Class ; PMID:17564960, PMID:9653640 ; RO:0002525 CHR:9606chr1q21 ; - oboInOwl:hasDbXref UMLS:C1970147 ; oboInOwl:hasExactSynonym "AD13", "alzheimer disease 13" ; + skos:exactMatch UMLS:C1970147 ; biolink:category biolink:Disease . OMIM:611154 a owl:Class ; @@ -439708,19 +456399,19 @@ OMIM:611154 a owl:Class ; PMID:17564960, PMID:9653640 ; RO:0002525 CHR:9606chr1q25 ; - oboInOwl:hasDbXref UMLS:C1970144 ; oboInOwl:hasExactSynonym "AD14", "alzheimer disease 14" ; + skos:exactMatch UMLS:C1970144 ; biolink:category biolink:Disease . OMIM:611174 a owl:Class ; rdfs:label "hamamy syndrome" ; IAO:0000142 PMID:17230486, PMID:22581230 ; - oboInOwl:hasDbXref UMLS:C1970027 ; oboInOwl:hasExactSynonym "HMMS", "hamamy syndrome", "hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility" ; + skos:exactMatch UMLS:C1970027 ; biolink:category biolink:Disease . OMIM:611182 a owl:Class ; @@ -439728,12 +456419,12 @@ OMIM:611182 a owl:Class ; IAO:0000142 PMID:17220172, PMID:17331980, PMID:30690882 ; - oboInOwl:hasDbXref UMLS:C1970021, - ORPHA:95428 ; oboInOwl:hasExactSynonym "CDG2H", "cdg iih", "congenital disorder of glycosylation, iia iih" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C1970021, + ORPHA:95428 ; biolink:category biolink:Disease . OMIM:611185 a owl:Class ; @@ -439746,11 +456437,11 @@ OMIM:611185 a owl:Class ; PMID:19620614, PMID:21572129 ; RO:0002525 CHR:9606chr6p21 ; - oboInOwl:hasDbXref UMLS:C1970020 ; oboInOwl:hasExactSynonym "RLS6", "periodic limb movements 1n sleep", "restless legs syndrome, susceptibility to, 6" ; rdfs:subClassOf OMIMPS:102300 ; + skos:exactMatch UMLS:C1970020 ; biolink:category biolink:Disease . OMIM:611209 a owl:Class ; @@ -439758,13 +456449,13 @@ OMIM:611209 a owl:Class ; IAO:0000142 PMID:16537452, PMID:18462449, PMID:19008299 ; - oboInOwl:hasDbXref UMLS:C2931011, - ORPHA:263508 ; oboInOwl:hasExactSynonym "CDG2G", "cdg iig", "cdgii/cog1 cerebrocostomandibular-like syndrome", "congenital disorder of glycosylation, iia iig" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C2931011, + ORPHA:263508 ; biolink:category biolink:Disease . OMIM:611225 a owl:Class ; @@ -439774,11 +456465,11 @@ OMIM:611225 a owl:Class ; PMID:21796390, PMID:23109145, PMID:23176823 ; - oboInOwl:hasDbXref UMLS:C2749936 ; oboInOwl:hasExactSynonym "SPG18", "intellectual disability, motor dysfunction, and joint contractures", "spastic paraplegia 18, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2749936 ; biolink:category biolink:Disease . OMIM:611242 a owl:Class ; @@ -439786,10 +456477,10 @@ OMIM:611242 a owl:Class ; IAO:0000142 PMID:12764067, PMID:16966564 ; RO:0002525 CHR:9606chr20p13 ; - oboInOwl:hasDbXref UMLS:C1970010 ; oboInOwl:hasExactSynonym "RLS5", "restless legs syndrome, susceptibility to, 5" ; rdfs:subClassOf OMIMPS:102300 ; + skos:exactMatch UMLS:C1970010 ; biolink:category biolink:Disease . OMIM:611247 a owl:Class ; @@ -439797,20 +456488,20 @@ OMIM:611247 a owl:Class ; IAO:0000142 PMID:12874110, PMID:17554300 ; RO:0002525 CHR:9606chr16p12 ; - oboInOwl:hasDbXref UMLS:C1970943 ; oboInOwl:hasExactSynonym "MAFD4", "bipolar affective disorder", "major affective disorder 4" ; + skos:exactMatch UMLS:C1970943 ; biolink:category biolink:Disease . OMIM:611252 a owl:Class ; rdfs:label "spastic paraplegia 32, autosomal recessive" ; IAO:0000142 PMID:17515546 ; RO:0002525 CHR:9606chr14q12-q21 ; - oboInOwl:hasDbXref UMLS:C1970009 ; oboInOwl:hasExactSynonym "SPG32", "spastic paraplegia 32, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1970009 ; biolink:category biolink:Disease . OMIM:611263 a owl:Class ; @@ -439821,30 +456512,30 @@ OMIM:611263 a owl:Class ; PMID:22791528, PMID:24183451, PMID:30767363 ; - oboInOwl:hasDbXref UMLS:C1970005, - ORPHA:474 ; oboInOwl:hasExactSynonym "SRTD2", "asphyxiating thoracic dystrophy 2", "short-rib thoracic dysplasia 2 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C1970005, + ORPHA:474 ; biolink:category biolink:Disease . OMIM:611274 a owl:Class ; rdfs:label "glaucoma 1, open angle, n" ; IAO:0000142 PMID:17122119 ; RO:0002525 CHR:9606chr15q22-q24 ; - oboInOwl:hasDbXref UMLS:C1969812 ; oboInOwl:hasExactSynonym "GLC1N", "glaucoma 1, open angle, n" ; + skos:exactMatch UMLS:C1969812 ; biolink:category biolink:Disease . OMIM:611276 a owl:Class ; rdfs:label "glaucoma 1, open angle, h" ; IAO:0000142 PMID:17210857 ; RO:0002525 CHR:9606chr2p16-p15 ; - oboInOwl:hasDbXref UMLS:C1969811 ; oboInOwl:hasExactSynonym "GLC1H", "glaucoma 1, open angle, h" ; + skos:exactMatch UMLS:C1969811 ; biolink:category biolink:Disease . OMIM:611283 a owl:Class ; @@ -439855,12 +456546,12 @@ OMIM:611283 a owl:Class ; PMID:16857760, PMID:17304052, PMID:9889013 ; - oboInOwl:hasDbXref UMLS:C1969809 ; oboInOwl:hasExactSynonym "IBDD", "acad8 deficiency", "acyl-coa dehydrogenase family, member 8, deficiency of", "ibd deficiency", "isobutyryl-coa dehydrogenase deficiency" ; + skos:exactMatch UMLS:C1969809 ; biolink:category biolink:Disease . OMIM:611291 a owl:Class ; @@ -439869,12 +456560,12 @@ OMIM:611291 a owl:Class ; PMID:16439204, PMID:16439205, PMID:16571728 ; - oboInOwl:hasDbXref UMLS:C1969799 ; oboInOwl:hasExactSynonym "nhej1 syndrome", "scid, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency", "scid, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation", "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation", "severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency" ; + skos:exactMatch UMLS:C1969799 ; biolink:category biolink:Disease . OMIM:611302 a owl:Class ; @@ -439882,10 +456573,10 @@ OMIM:611302 a owl:Class ; IAO:0000142 PMID:17273843, PMID:24319291, PMID:24482476 ; - oboInOwl:hasDbXref UMLS:C1969796 ; oboInOwl:hasExactSynonym "SPAX2", "spastic ataxia 2, autosomal recessive" ; rdfs:subClassOf OMIMPS:108600 ; + skos:exactMatch UMLS:C1969796 ; biolink:category biolink:Disease . OMIM:611307 a owl:Class ; @@ -439895,22 +456586,22 @@ OMIM:611307 a owl:Class ; PMID:22402862, PMID:30055862, PMID:4834543 ; - oboInOwl:hasDbXref UMLS:C1969785, - ORPHA:206549 ; oboInOwl:hasExactSynonym "LGMDR12", "muscular dystrophy, limb-girdle, iia 2l", "muscular dystrophy, limb-girdle, autosomal recessive 12" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C1969785, + ORPHA:206549 ; biolink:category biolink:Disease . OMIM:611363 a owl:Class ; rdfs:label "atrial septal defect 4" ; IAO:0000142 PMID:17668378, PMID:19762328 ; - oboInOwl:hasDbXref UMLS:C1969657 ; oboInOwl:hasExactSynonym "ASD4", "atrial septal defect 4" ; rdfs:subClassOf OMIMPS:108800 ; + skos:exactMatch UMLS:C1969657 ; biolink:category biolink:Disease . OMIM:611364 a owl:Class ; @@ -439918,20 +456609,20 @@ OMIM:611364 a owl:Class ; IAO:0000142 PMID:17431681 ; RO:0002525 CHR:9606chr5q12-q14 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C1969656 ; oboInOwl:hasExactSynonym "EJM4", "myoclonic epilepsy, juvenile, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:254770 ; + skos:exactMatch UMLS:C1969656 ; biolink:category biolink:Disease . OMIM:611369 a owl:Class ; rdfs:label "lethal congenital contracture syndrome 3" ; IAO:0000142 PMID:17701898 ; - oboInOwl:hasDbXref UMLS:C1969655 ; oboInOwl:hasExactSynonym "LCCS3", "lethal congenital contracture syndrome 3", "multiple contracture syndrome, israeli bedouin iia B" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C1969655 ; biolink:category biolink:Disease . OMIM:611378 a owl:Class ; @@ -439942,10 +456633,10 @@ OMIM:611378 a owl:Class ; PMID:24036949, PMID:24036950, PMID:24036952 ; - oboInOwl:hasDbXref UMLS:C1969651 ; oboInOwl:hasExactSynonym "ARMD9", "macular degeneration, age-related, 9" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C1969651 ; biolink:category biolink:Disease . OMIM:611381 a owl:Class ; @@ -439953,11 +456644,11 @@ OMIM:611381 a owl:Class ; IAO:0000142 PMID:17122780, PMID:17500593 ; RO:0002525 CHR:9606chr1p22 ; - oboInOwl:hasDbXref UMLS:C1969649 ; oboInOwl:hasExactSynonym "KAZA2", "kala-azar, susceptibility to, 2", "leishmaniasis, visceral, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:608207 ; + skos:exactMatch UMLS:C1969649 ; biolink:category biolink:Disease . OMIM:611382 a owl:Class ; @@ -439965,11 +456656,11 @@ OMIM:611382 a owl:Class ; IAO:0000142 PMID:17122780, PMID:17500593 ; RO:0002525 CHR:9606chr6q27 ; - oboInOwl:hasDbXref UMLS:C1969648 ; oboInOwl:hasExactSynonym "KAZA3", "kala-azar, susceptibility to, 3", "leishmaniasis, visceral, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:608207 ; + skos:exactMatch UMLS:C1969648 ; biolink:category biolink:Disease . OMIM:611383 a owl:Class ; @@ -439978,31 +456669,31 @@ OMIM:611383 a owl:Class ; PMID:21895633, PMID:22147658, PMID:9624053 ; - oboInOwl:hasDbXref UMLS:C1568249 ; oboInOwl:hasExactSynonym "USH2D", "usher syndrome, iia 2d" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C1568249 ; biolink:category biolink:Disease . OMIM:611384 a owl:Class ; rdfs:label "plasmodium falciparum fever episodes quantitative trait locus 1" ; IAO:0000142 PMID:17381244 ; RO:0002525 CHR:9606chr10p15 ; - oboInOwl:hasDbXref UMLS:C1969647 ; oboInOwl:hasExactSynonym "malaria fever episodes quantitative trait locus 1", "pffe1", "plasmodium falciparum fever episodes quantitative trait locus 1" ; + skos:exactMatch UMLS:C1969647 ; biolink:category biolink:Disease . OMIM:611390 a owl:Class ; rdfs:label "spastic ataxia 3, autosomal recessive" ; IAO:0000142 PMID:16672289, PMID:22448145 ; - oboInOwl:hasDbXref UMLS:C1969645 ; oboInOwl:hasExactSynonym "SPAX3", "autosomal recessive spastic ataxia with leukoencephalopathy", "spastic ataxia 3, autosomal recessive" ; rdfs:subClassOf OMIMPS:108600 ; + skos:exactMatch UMLS:C1969645 ; biolink:category biolink:Disease . OMIM:611391 a owl:Class ; @@ -440011,10 +456702,10 @@ OMIM:611391 a owl:Class ; PMID:24379646, PMID:26694549, PMID:28450710 ; - oboInOwl:hasDbXref UMLS:C3808107 ; oboInOwl:hasExactSynonym "CTRCT33", "cataract 33, multiple types" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3808107 ; biolink:category biolink:Disease . OMIM:611403 a owl:Class ; @@ -440031,9 +456722,9 @@ OMIM:611403 a owl:Class ; PMID:20860503, PMID:23534543 ; RO:0002525 CHR:9606chr17q21 ; - oboInOwl:hasDbXref UMLS:C1969640 ; oboInOwl:hasExactSynonym "asrt6", "asthma-related traits, susceptibility to, 6" ; + skos:exactMatch UMLS:C1969640 ; biolink:category biolink:Disease . OMIM:611431 a owl:Class ; @@ -440044,10 +456735,10 @@ OMIM:611431 a owl:Class ; PMID:21548021, PMID:21649642, PMID:22753041 ; - oboInOwl:hasDbXref UMLS:C1969623 ; oboInOwl:hasExactSynonym "LGSS", "legius syndrome", "neurofibromatosis iia 1-like syndrome" ; + skos:exactMatch UMLS:C1969623 ; biolink:category biolink:Disease . OMIM:611451 a owl:Class ; @@ -440057,10 +456748,10 @@ OMIM:611451 a owl:Class ; PMID:17211611, PMID:18794526, PMID:18953341 ; - oboInOwl:hasDbXref UMLS:C1969621 ; oboInOwl:hasExactSynonym "DFNB63", "deafness, autosomal recessive 63" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1969621 ; biolink:category biolink:Disease . OMIM:611456 a owl:Class ; @@ -440068,19 +456759,19 @@ OMIM:611456 a owl:Class ; IAO:0000142 PMID:16702189 ; RO:0002525 CHR:9606chr6p23 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C1969617 ; oboInOwl:hasExactSynonym "ETM3", "tremor, hereditary essential, 3" ; rdfs:subClassOf OMIMPS:190300 ; + skos:exactMatch UMLS:C1969617 ; biolink:category biolink:Disease . OMIM:611465 a owl:Class ; rdfs:label "gallbladder disease 4" ; IAO:0000142 PMID:17632509 ; - oboInOwl:hasDbXref UMLS:C1969115 ; oboInOwl:hasExactSynonym "GBD4", "gallbladder disease 4" ; rdfs:subClassOf OMIMPS:600803 ; + skos:exactMatch UMLS:C1969115 ; biolink:category biolink:Disease . OMIM:611469 a owl:Class ; @@ -440095,10 +456786,10 @@ OMIM:611469 a owl:Class ; PMID:19561607, PMID:20133699 ; RO:0002525 CHR:9606chr8q24 ; - oboInOwl:hasDbXref UMLS:C1969113 ; oboInOwl:hasExactSynonym "CRCS2", "colorectal cancer, susceptibility to, 2", "colorectal cancer, susceptibility to, on chromosome 8q24" ; + skos:exactMatch UMLS:C1969113 ; biolink:category biolink:Disease . OMIM:611489 a owl:Class ; @@ -440111,12 +456802,12 @@ OMIM:611489 a owl:Class ; PMID:4969809, PMID:7061486, PMID:8212073 ; - oboInOwl:hasDbXref UMLS:C1852529, - UMLS:C1969107 ; oboInOwl:hasExactSynonym "cbg deficiency", "corticosteroid-binding globulin deficiency", "corticosteroid-binding globulin, elevated", "transcortin deficiency" ; + skos:exactMatch UMLS:C1852529, + UMLS:C1969107 ; biolink:category biolink:Disease . OMIM:611490 a owl:Class ; @@ -440124,11 +456815,11 @@ OMIM:611490 a owl:Class ; IAO:0000142 PMID:11207362, PMID:11741829, PMID:17033731 ; - oboInOwl:hasDbXref UMLS:C1969106 ; oboInOwl:hasExactSynonym "OPTB4", "osteopetrosis, autosomal recessive 4", "osteopetrosis, infantile malignant 2" ; rdfs:subClassOf OMIMPS:259700 ; + skos:exactMatch UMLS:C1969106 ; biolink:category biolink:Disease . OMIM:611494 a owl:Class ; @@ -440142,20 +456833,20 @@ OMIM:611494 a owl:Class ; PMID:27866707, PMID:9070470 ; RO:0002525 CHR:9606chr4q25 ; - oboInOwl:hasDbXref UMLS:C1969099 ; oboInOwl:hasExactSynonym "ATFB5", "atrial fibrillation, familial, 5" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C1969099 ; biolink:category biolink:Disease . OMIM:611498 a owl:Class ; rdfs:label "nephronophthisis 7" ; IAO:0000142 PMID:17618285, PMID:23559409 ; - oboInOwl:hasDbXref UMLS:C1969092 ; oboInOwl:hasExactSynonym "NPHP7", "nephronophthisis 7" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C1969092 ; biolink:category biolink:Disease . OMIM:611515 a owl:Class ; @@ -440163,11 +456854,11 @@ OMIM:611515 a owl:Class ; IAO:0000142 PMID:17054683 ; RO:0002525 CHR:9606chr21q22 ; RO:0003303 OMIM:7 ; - oboInOwl:hasDbXref UMLS:C1969087 ; oboInOwl:hasExactSynonym "FEB7", "febrile convulsions, familial, 7", "febrile seizures, familial, 7" ; rdfs:subClassOf OMIMPS:121210 ; + skos:exactMatch UMLS:C1969087 ; biolink:category biolink:Disease . OMIM:611521 a owl:Class ; @@ -440176,7 +456867,6 @@ OMIM:611521 a owl:Class ; PMID:17521577, PMID:22402565, PMID:26304966 ; - oboInOwl:hasDbXref UMLS:C1969086 ; oboInOwl:hasExactSynonym "IMD35", "hies with atypical mycobacteriosis, autosomal recessive", "hyper-ige syndrome with atypical mycobacteriosis, autosomal recessive", @@ -440184,6 +456874,7 @@ OMIM:611521 a owl:Class ; "tyk2 deficiency", "tyrosine kinase 2 deficiency" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1969086 ; biolink:category biolink:Disease . OMIM:611523 a owl:Class ; @@ -440191,22 +456882,22 @@ OMIM:611523 a owl:Class ; IAO:0000142 PMID:17847012, PMID:20635367, PMID:25809939 ; - oboInOwl:hasDbXref UMLS:C1969084 ; oboInOwl:hasExactSynonym "PCH6", "encephalopathy, fatal infantile, with mitochondrial respiratory chain defects", "pontocerebellar hypoplasia, iia 6" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C1969084 ; biolink:category biolink:Disease . OMIM:611535 a owl:Class ; rdfs:label "major affective disorder 5" ; IAO:0000142 PMID:17924339 ; RO:0002525 CHR:9606chr2q22-q24 ; - oboInOwl:hasDbXref UMLS:C0005586, - UMLS:C1970944 ; oboInOwl:hasExactSynonym "MAFD5", "bipolar affective disorder", "major affective disorder 5" ; + skos:exactMatch UMLS:C0005586, + UMLS:C1970944 ; biolink:category biolink:Disease . OMIM:611536 a owl:Class ; @@ -440214,10 +456905,10 @@ OMIM:611536 a owl:Class ; IAO:0000142 PMID:16175504, PMID:17924339 ; RO:0002525 CHR:9606chr6q23-q24 ; - oboInOwl:hasDbXref UMLS:C1970945 ; oboInOwl:hasExactSynonym "MAFD6", "bipolar affective disorder", "major affective disorder 6" ; + skos:exactMatch UMLS:C1970945 ; biolink:category biolink:Disease . OMIM:611543 a owl:Class ; @@ -440228,9 +456919,9 @@ OMIM:611543 a owl:Class ; PMID:25581579, PMID:2710526, PMID:945057 ; - oboInOwl:hasDbXref UMLS:C1969063 ; oboInOwl:hasExactSynonym "CODA", "cavitary optic disc anomalies" ; + skos:exactMatch UMLS:C1969063 ; biolink:category biolink:Disease . OMIM:611544 a owl:Class ; @@ -440239,13 +456930,13 @@ OMIM:611544 a owl:Class ; PMID:16110300, PMID:17460281, PMID:21972112 ; - oboInOwl:hasDbXref UMLS:C1969062, - UMLS:C3888124 ; oboInOwl:hasExactSynonym "CTRCT17", "cataract 17, multiple types", "cataract 17, multiple types, with or without microcornea", "cataract, congenital nuclear, autosomal recessive 3" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1969062, + UMLS:C3888124 ; biolink:category biolink:Disease . OMIM:611548 a owl:Class ; @@ -440254,21 +456945,21 @@ OMIM:611548 a owl:Class ; PMID:19411303, PMID:21837770, PMID:25514101 ; - oboInOwl:hasDbXref UMLS:C1969060 ; oboInOwl:hasExactSynonym "POF5", "premature ovarian failure 5" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C1969060 ; biolink:category biolink:Disease . OMIM:611553 a owl:Class ; rdfs:label "noonan syndrome 5" ; IAO:0000142 PMID:17603482, PMID:17603483 ; - oboInOwl:hasDbXref UMLS:C1969057, - ORPHA:648 ; oboInOwl:hasExactSynonym "NS5", "noonan syndrome 5" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C1969057, + ORPHA:648 ; biolink:category biolink:Disease . OMIM:611556 a owl:Class ; @@ -440279,32 +456970,32 @@ OMIM:611556 a owl:Class ; PMID:16306363, PMID:17928598, PMID:19699667 ; - oboInOwl:hasDbXref UMLS:C1969054, - ORPHA:137625 ; oboInOwl:hasExactSynonym "GSD0B", "glycogen storage disease 0, muscle", "gsd 0b", "muscle glycogen storage disease 0", "muscle glycogen synthase deficiency" ; + skos:exactMatch UMLS:C1969054, + ORPHA:137625 ; biolink:category biolink:Disease . OMIM:611561 a owl:Class ; rdfs:label "meckel syndrome, iia 5" ; IAO:0000142 PMID:17558409 ; - oboInOwl:hasDbXref UMLS:C1969052 ; oboInOwl:hasExactSynonym "MKS5", "meckel syndrome, iia 5" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C1969052 ; biolink:category biolink:Disease . OMIM:611571 a owl:Class ; rdfs:label "otosclerosis 4" ; IAO:0000142 PMID:16618911 ; RO:0002525 CHR:9606chr16q22.1-q23.1 ; - oboInOwl:hasDbXref UMLS:C1969046 ; oboInOwl:hasExactSynonym "OTSC4", "otosclerosis 4" ; rdfs:subClassOf OMIMPS:166800 ; + skos:exactMatch UMLS:C1969046 ; biolink:category biolink:Disease . OMIM:611572 a owl:Class ; @@ -440313,10 +457004,10 @@ OMIM:611572 a owl:Class ; PMID:17213839, PMID:17568406 ; RO:0002525 CHR:9606chr6q13-q16.1 ; - oboInOwl:hasDbXref UMLS:C1969044 ; oboInOwl:hasExactSynonym "OTSC7", "otosclerosis 7" ; rdfs:subClassOf OMIMPS:166800 ; + skos:exactMatch UMLS:C1969044 ; biolink:category biolink:Disease . OMIM:611588 a owl:Class ; @@ -440327,14 +457018,14 @@ OMIM:611588 a owl:Class ; PMID:19179078, PMID:19299310, PMID:19342235 ; - oboInOwl:hasDbXref UMLS:C1969040, - ORPHA:206554 ; oboInOwl:hasExactSynonym "MDDGC4", "muscular dystrophy, limb-girdle, iia 2m", "muscular dystrophy, limb-girdle, autosomal recessive 13", "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 4" ; rdfs:subClassOf OMIMPS:253600, OMIMPS:609308 ; + skos:exactMatch UMLS:C1969040, + ORPHA:206554 ; biolink:category biolink:Disease . OMIM:611597 a owl:Class ; @@ -440343,11 +457034,11 @@ OMIM:611597 a owl:Class ; PMID:10729115, PMID:10739768, PMID:15570218 ; - oboInOwl:hasDbXref UMLS:C3808115, - ORPHA:91492 ; oboInOwl:hasExactSynonym "CTRCT12", "cataract 12, multiple types" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3808115, + ORPHA:91492 ; biolink:category biolink:Disease . OMIM:611598 a owl:Class ; @@ -440361,13 +457052,13 @@ OMIM:611598 a owl:Class ; PMID:18369459, PMID:18805825 ; RO:0002525 CHR:9606chr4q27 ; - oboInOwl:hasDbXref UMLS:C1969030, - UMLS:C1969031 ; oboInOwl:hasExactSynonym "CELIAC6", "autoimmune disease, susceptibility to, 5", "celiac disease, susceptibility to, 6", "gluten-sensitive enteropathy, susceptibility to, 6" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C1969030, + UMLS:C1969031 ; biolink:category biolink:Disease . OMIM:611603 a owl:Class ; @@ -440380,10 +457071,10 @@ OMIM:611603 a owl:Class ; PMID:21403111, PMID:22948023, PMID:25059107 ; - oboInOwl:hasDbXref UMLS:C1969029 ; oboInOwl:hasExactSynonym "LIS3", "lissencephaly 3" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C1969029 ; biolink:category biolink:Disease . OMIM:611630 a owl:Class ; @@ -440391,11 +457082,11 @@ OMIM:611630 a owl:Class ; IAO:0000142 PMID:17377072 ; RO:0002525 CHR:9606chr4q13.2-q21.3 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C1968848 ; oboInOwl:hasExactSynonym "ETL3", "epilepsy, familial mesial temporal lobe", "epilepsy, familial temporal lobe, 3" ; rdfs:subClassOf OMIMPS:600512 ; + skos:exactMatch UMLS:C1968848 ; biolink:category biolink:Disease . OMIM:611631 a owl:Class ; @@ -440404,11 +457095,11 @@ OMIM:611631 a owl:Class ; PMID:18332351 ; RO:0002525 CHR:9606chr9q21-q22 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C1968847 ; oboInOwl:hasExactSynonym "ETL4", "epilepsy, familial temporal lobe, 4", "epilepsy, occipitotemporal lobe, and migraine with aura" ; rdfs:subClassOf OMIMPS:600512 ; + skos:exactMatch UMLS:C1968847 ; biolink:category biolink:Disease . OMIM:611634 a owl:Class ; @@ -440416,11 +457107,11 @@ OMIM:611634 a owl:Class ; IAO:0000142 PMID:17452582 ; RO:0002525 CHR:9606chr3p24.2-p23 ; RO:0003303 OMIM:9 ; - oboInOwl:hasDbXref UMLS:C1968846 ; oboInOwl:hasExactSynonym "FEB9", "febrile convulsions, familial, 9", "febrile seizures, familial, 9" ; rdfs:subClassOf OMIMPS:121210 ; + skos:exactMatch UMLS:C1968846 ; biolink:category biolink:Disease . OMIM:611637 a owl:Class ; @@ -440431,10 +457122,10 @@ OMIM:611637 a owl:Class ; PMID:18332252 ; RO:0002525 CHR:9606chr4p16 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C1968845 ; oboInOwl:hasExactSynonym "PLSA1", "pls, adult", "primary lateral sclerosis, adult, 1" ; + skos:exactMatch UMLS:C1968845 ; biolink:category biolink:Disease . OMIM:611644 a owl:Class ; @@ -440445,10 +457136,10 @@ OMIM:611644 a owl:Class ; PMID:17965226, PMID:19764020 ; RO:0002525 CHR:9606chr4q31.3-q32.3 ; - oboInOwl:hasDbXref UMLS:C1968840 ; oboInOwl:hasExactSynonym "HSCR9", "hirschsprung disease, susceptibility to, 9" ; rdfs:subClassOf OMIMPS:142623 ; + skos:exactMatch UMLS:C1968840 ; biolink:category biolink:Disease . OMIM:611663 a owl:Class ; @@ -440459,35 +457150,36 @@ OMIM:611663 a owl:Class ; PMID:6863898 ; RO:0002525 CHR:9606chr20p13 ; RO:0003303 OMIM:615663 ; - oboInOwl:hasDbXref UMLS:C1539936 ; oboInOwl:hasExactSynonym "TBC1D20", "chromosome 20 open reading frame 140", "tbc1 domain family, member 20" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:128637 ; - skos:exactMatch HGNC_symbol:TBC1D20 ; + skos:exactMatch UMLS:C1539936, + HGNC:16133, + HGNC_symbol:TBC1D20 ; biolink:category biolink:Gene . OMIM:611664 a owl:Class ; rdfs:label "skin/hair/eye pigmentation, variation in, 7" ; IAO:0000142 PMID:17952075, PMID:18083106 ; - oboInOwl:hasDbXref UMLS:C2674081 ; oboInOwl:hasExactSynonym "SHEP7", "skin/hair/eye pigmentation 7, blond/brown hair", "skin/hair/eye pigmentation 7, dark/light skin", "skin/hair/eye pigmentation, variation in, 7" ; rdfs:subClassOf OMIMPS:227220 ; + skos:exactMatch UMLS:C2674081 ; biolink:category biolink:Disease . OMIM:611706 a owl:Class ; rdfs:label "migraine with or without aura, susceptibility to, 12" ; IAO:0000142 PMID:18423523 ; RO:0002525 CHR:9606chr10q22-q23 ; - oboInOwl:hasDbXref UMLS:C2673676 ; oboInOwl:hasExactSynonym "MGR12", "migraine with or without aura, susceptibility to, 12" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C2673676 ; biolink:category biolink:Disease . OMIM:611718 a owl:Class ; @@ -440495,11 +457187,11 @@ OMIM:611718 a owl:Class ; IAO:0000142 PMID:12584272, PMID:17671655, PMID:3436090 ; - oboInOwl:hasDbXref UMLS:C2673648 ; oboInOwl:hasExactSynonym "HOMG4", "hypomagnesemia 4, renal", "hypomagnesemia, renal, normocalciuric" ; rdfs:subClassOf OMIMPS:602014 ; + skos:exactMatch UMLS:C2673648 ; biolink:category biolink:Disease . OMIM:611724 a owl:Class ; @@ -440509,7 +457201,6 @@ OMIM:611724 a owl:Class ; PMID:19710684, PMID:20602913, PMID:24267888 ; - oboInOwl:hasDbXref UMLS:C2673265 ; oboInOwl:hasExactSynonym "SHEP8", "skin/hair/eye pigmentation 8, blue/light eye color", "skin/hair/eye pigmentation 8, brown hair", @@ -440517,6 +457208,7 @@ OMIM:611724 a owl:Class ; "skin/hair/eye pigmentation 8, freckling/sunburn", "skin/hair/eye pigmentation, variation in, 8" ; rdfs:subClassOf OMIMPS:227220 ; + skos:exactMatch UMLS:C2673265 ; biolink:category biolink:Disease . OMIM:611726 a owl:Class ; @@ -440524,12 +457216,12 @@ OMIM:611726 a owl:Class ; IAO:0000142 PMID:17455289, PMID:22693283, PMID:22748208 ; - oboInOwl:hasDbXref UMLS:C2673257 ; oboInOwl:hasExactSynonym "EPM3", "ceroid lipofuscinosis, neuronal, 14", "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions" ; rdfs:subClassOf OMIMPS:254800, OMIMPS:256730 ; + skos:exactMatch UMLS:C2673257 ; biolink:category biolink:Disease . OMIM:611738 a owl:Class ; @@ -440538,9 +457230,9 @@ OMIM:611738 a owl:Class ; PMID:20096396 ; RO:0002525 CHR:9606chr20p12.3 ; RO:0003303 OMIM:166710 ; - oboInOwl:hasDbXref UMLS:C2673201 ; oboInOwl:hasExactSynonym "BMND7", "bone mineral density quantitative trait locus 7" ; + skos:exactMatch UMLS:C2673201 ; biolink:category biolink:Disease . OMIM:611739 a owl:Class ; @@ -440548,10 +457240,10 @@ OMIM:611739 a owl:Class ; IAO:0000142 PMID:17377523 ; RO:0002525 CHR:9606chr11p12 ; RO:0003303 OMIM:166710 ; - oboInOwl:hasDbXref UMLS:C2678504 ; oboInOwl:hasExactSynonym "BMND8", "bone mineral density quantitative trait locus 8", "osteoporosis, susceptibility to" ; + skos:exactMatch UMLS:C2678504 ; biolink:category biolink:Disease . OMIM:611742 a owl:Class ; @@ -440559,7 +457251,6 @@ OMIM:611742 a owl:Class ; IAO:0000142 PMID:11833005, PMID:18488028, PMID:7761391 ; - oboInOwl:hasDbXref UMLS:C2673200 ; oboInOwl:hasExactSynonym "SHEP9", "skin/hair/eye pigmentation 9, brown/nonbrown eyes", "skin/hair/eye pigmentation 9, dark/light hair", @@ -440567,6 +457258,7 @@ OMIM:611742 a owl:Class ; "skin/hair/eye pigmentation 9, red/nonred hair", "skin/hair/eye pigmentation, variation in, 9" ; rdfs:subClassOf OMIMPS:227220 ; + skos:exactMatch UMLS:C2673200 ; biolink:category biolink:Disease . OMIM:611762 a owl:Class ; @@ -440577,10 +457269,10 @@ OMIM:611762 a owl:Class ; PMID:24064030, PMID:27314497, PMID:27633793 ; - oboInOwl:hasDbXref UMLS:C2673198 ; oboInOwl:hasExactSynonym "FCAS2", "familial cold autoinflammatory syndrome 2" ; rdfs:subClassOf OMIMPS:120100 ; + skos:exactMatch UMLS:C2673198 ; biolink:category biolink:Disease . OMIM:611775 a owl:Class ; @@ -440609,13 +457301,13 @@ OMIM:611775 a owl:Class ; PMID:7062202, PMID:7231502, PMID:8822996 ; - oboInOwl:hasDbXref UMLS:C0026691, - UMLS:C2936917, - ORPHA:2331 ; oboInOwl:hasExactSynonym "infantile polyarteritis", "kawasaki disease", "kd", "mucocutaneous lymph node syndrome" ; + skos:exactMatch UMLS:C0026691, + UMLS:C2936917, + ORPHA:2331 ; biolink:category biolink:Disease . OMIM:611777 a owl:Class ; @@ -440624,10 +457316,10 @@ OMIM:611777 a owl:Class ; PMID:15655131, PMID:17967976, PMID:17967977 ; - oboInOwl:hasDbXref UMLS:C2673193 ; oboInOwl:hasExactSynonym "BRGDA2", "brugada syndrome 2" ; rdfs:subClassOf OMIMPS:601144 ; + skos:exactMatch UMLS:C2673193 ; biolink:category biolink:Disease . OMIM:611783 a owl:Class ; @@ -440635,10 +457327,10 @@ OMIM:611783 a owl:Class ; IAO:0000142 PMID:18184961, PMID:18378852, PMID:18456918 ; - oboInOwl:hasDbXref UMLS:C2673187 ; oboInOwl:hasExactSynonym "ECYT4", "erythrocytosis, familial, 4" ; rdfs:subClassOf OMIMPS:133100 ; + skos:exactMatch UMLS:C2673187 ; biolink:category biolink:Disease . OMIM:611804 a owl:Class ; @@ -440672,52 +457364,52 @@ OMIM:611804 a owl:Class ; PMID:7082842, PMID:7255153, PMID:9598318 ; - oboInOwl:hasDbXref UMLS:C2678497 ; oboInOwl:hasExactSynonym "4.1- trait", "4.1-minus trait", "EL1", "elliptocytosis 1", "elliptocytosis, rhesus-linked iia", "protein 4.1 of erythrocyte membrane, defect of" ; + skos:exactMatch UMLS:C2678497 ; biolink:category biolink:Disease . OMIM:611819 a owl:Class ; rdfs:label "long qt syndrome 10" ; IAO:0000142 PMID:17592081, PMID:23604097 ; - oboInOwl:hasDbXref UMLS:C2678484, - UMLS:C4013560 ; oboInOwl:hasExactSynonym "LQT10", "atrial fibrillation, familial, 17", "long qt syndrome 10" ; rdfs:subClassOf OMIMPS:192500, OMIMPS:608583 ; + skos:exactMatch UMLS:C2678484, + UMLS:C4013560 ; biolink:category biolink:Disease . OMIM:611820 a owl:Class ; rdfs:label "long qt syndrome 11" ; IAO:0000142 PMID:10220144, PMID:18093912 ; - oboInOwl:hasDbXref UMLS:C2678483 ; oboInOwl:hasExactSynonym "LQT11", "long qt syndrome 11" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C2678483 ; biolink:category biolink:Disease . OMIM:611863 a owl:Class ; rdfs:label "microtia with nasolacrimal duct imperforation and eye coloboma" ; IAO:0000142 PMID:18179897 ; RO:0002525 CHR:9606chr4p16-p15 ; - oboInOwl:hasDbXref UMLS:C2678482 ; oboInOwl:hasExactSynonym "microtia with nasolacrimal duct imperforation and eye coloboma" ; + skos:exactMatch UMLS:C2678482 ; biolink:category biolink:Disease . OMIM:611868 a owl:Class ; rdfs:label "prostate cancer, hereditary, 12" ; IAO:0000142 PMID:18264098 ; - oboInOwl:hasDbXref UMLS:C2678479 ; oboInOwl:hasExactSynonym "HPC12", "prostate cancer, hereditary, 12" ; + skos:exactMatch UMLS:C2678479 ; biolink:category biolink:Disease . OMIM:611876 a owl:Class ; @@ -440726,10 +457418,10 @@ OMIM:611876 a owl:Class ; PMID:17224476, PMID:19358333, PMID:22840528 ; - oboInOwl:hasDbXref UMLS:C2678477 ; oboInOwl:hasExactSynonym "BRGDA4", "brugada syndrome 4" ; rdfs:subClassOf OMIMPS:601144 ; + skos:exactMatch UMLS:C2678477 ; biolink:category biolink:Disease . OMIM:611878 a owl:Class ; @@ -440738,13 +457430,13 @@ OMIM:611878 a owl:Class ; PMID:21551322, PMID:27177193, PMID:29024827 ; - oboInOwl:hasDbXref UMLS:C2678476, - UMLS:C3808145 ; oboInOwl:hasExactSynonym "CMD1Y", "cardiomyopathy, dilated, 1y", "left ventricular noncompaction 9" ; rdfs:subClassOf OMIMPS:115200, OMIMPS:604169 ; + skos:exactMatch UMLS:C2678476, + UMLS:C3808145 ; biolink:category biolink:Disease . OMIM:611880 a owl:Class ; @@ -440755,12 +457447,12 @@ OMIM:611880 a owl:Class ; PMID:15070570, PMID:19590045, PMID:3594932 ; - oboInOwl:hasDbXref UMLS:C2678474 ; oboInOwl:hasExactSynonym "CMD2A", "cardiomyopathy, congestive, autosomal recessive", "cardiomyopathy, dilated, 2a", "cardiomyopathy, dilated, autosomal recessive" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C2678474 ; biolink:category biolink:Disease . OMIM:611881 a owl:Class ; @@ -440770,7 +457462,6 @@ OMIM:611881 a owl:Class ; PMID:4788792, PMID:7331996, PMID:8598869 ; - oboInOwl:hasDbXref UMLS:C0272066 ; oboInOwl:hasExactSynonym "GSD12", "aldoa deficiency", "aldolase a deficiency", @@ -440778,6 +457469,7 @@ OMIM:611881 a owl:Class ; "glycogen storage disease 12", "gsd 12", "red cell aldolase deficiency" ; + skos:exactMatch UMLS:C0272066 ; biolink:category biolink:Disease . OMIM:611891 a owl:Class ; @@ -440786,10 +457478,10 @@ OMIM:611891 a owl:Class ; PMID:18176561, PMID:18854858 ; RO:0002525 CHR:9606chr9p21 ; - oboInOwl:hasDbXref UMLS:C2678470 ; oboInOwl:hasExactSynonym "AAA3", "aortic aneurysm, familial abdominal, 3" ; rdfs:subClassOf OMIMPS:100070 ; + skos:exactMatch UMLS:C2678470 ; biolink:category biolink:Disease . OMIM:611892 a owl:Class ; @@ -440801,10 +457493,10 @@ OMIM:611892 a owl:Class ; PMID:20364137, PMID:22286173 ; RO:0002525 CHR:9606chr9p21 ; - oboInOwl:hasDbXref UMLS:C2678469 ; oboInOwl:hasExactSynonym "ANIB6", "aneurysm, intracranial berry, 6" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C2678469 ; biolink:category biolink:Disease . OMIM:611895 a owl:Class ; @@ -440818,31 +457510,31 @@ OMIM:611895 a owl:Class ; PMID:18852347, PMID:19153377, PMID:20577002 ; - oboInOwl:hasDbXref UMLS:C2678468 ; oboInOwl:hasExactSynonym "ALS9", "amyotrophic lateral sclerosis 9" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C2678468 ; biolink:category biolink:Disease . OMIM:611897 a owl:Class ; rdfs:label "nanophthalmos 3" ; IAO:0000142 PMID:17924146 ; RO:0002525 CHR:9606chr2q11-q14 ; - oboInOwl:hasDbXref UMLS:C2678467 ; oboInOwl:hasExactSynonym "NNO3", "nanophthalmia 3", "nanophthalmos 3" ; rdfs:subClassOf OMIMPS:600165 ; + skos:exactMatch UMLS:C2678467 ; biolink:category biolink:Disease . OMIM:611907 a owl:Class ; rdfs:label "episodic ataxia, iia 7" ; IAO:0000142 PMID:17502476 ; RO:0002525 CHR:9606chr19q13 ; - oboInOwl:hasDbXref UMLS:C2677843 ; oboInOwl:hasExactSynonym "EA7", "episodic ataxia, iia 7" ; rdfs:subClassOf OMIMPS:160120 ; + skos:exactMatch UMLS:C2677843 ; biolink:category biolink:Disease . OMIM:611920 a owl:Class ; @@ -440850,9 +457542,9 @@ OMIM:611920 a owl:Class ; IAO:0000142 PMID:11818963, PMID:17530289 ; RO:0002525 CHR:9606chr10q23-q24 ; - oboInOwl:hasDbXref UMLS:C2677836 ; oboInOwl:hasExactSynonym "CRPQTL1", "c-reactive protein, serum level of, quantitative trait locus 1" ; + skos:exactMatch UMLS:C2677836 ; biolink:category biolink:Disease . OMIM:611928 a owl:Class ; @@ -440863,20 +457555,20 @@ OMIM:611928 a owl:Class ; PMID:18264097, PMID:19383797, PMID:19644707 ; - oboInOwl:hasDbXref UMLS:C2677821 ; oboInOwl:hasExactSynonym "HPC13", "prostate cancer, hereditary, 13" ; + skos:exactMatch UMLS:C2677821 ; biolink:category biolink:Disease . OMIM:611934 a owl:Class ; rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 5" ; IAO:0000142 PMID:18241056 ; RO:0002525 CHR:9606chr10p11.22 ; - oboInOwl:hasDbXref UMLS:C2677808 ; oboInOwl:hasExactSynonym "EIG5", "epilepsy, idiopathic generalized, susceptibility to, 5", "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" ; rdfs:subClassOf OMIMPS:600669 ; + skos:exactMatch UMLS:C2677808 ; biolink:category biolink:Disease . OMIM:611938 a owl:Class ; @@ -440884,11 +457576,11 @@ OMIM:611938 a owl:Class ; IAO:0000142 PMID:11401939, PMID:11704930, PMID:16908766 ; - oboInOwl:hasDbXref UMLS:C2677794 ; oboInOwl:hasExactSynonym "CPVT2", "ventricular tachycardia, catecholaminergic polymorphic, 2", "ventricular tachycardia, stress-induced polymorphic" ; rdfs:subClassOf OMIMPS:604772 ; + skos:exactMatch UMLS:C2677794 ; biolink:category biolink:Disease . OMIM:611942 a owl:Class ; @@ -440896,13 +457588,13 @@ OMIM:611942 a owl:Class ; IAO:0000142 PMID:12891677, PMID:15048902, PMID:17696120 ; - oboInOwl:hasDbXref UMLS:C2677793, - UMLS:C2749872 ; oboInOwl:hasExactSynonym "ECA6", "epilepsy, childhood absence, susceptibility to, 6", "epilepsy, idiopathic generalized, susceptibility to, 6" ; rdfs:subClassOf OMIMPS:600131, OMIMPS:600669 ; + skos:exactMatch UMLS:C2677793, + UMLS:C2749872 ; biolink:category biolink:Disease . OMIM:611943 a owl:Class ; @@ -440910,10 +457602,10 @@ OMIM:611943 a owl:Class ; IAO:0000142 PMID:17940005, PMID:19203578, PMID:21394101 ; - oboInOwl:hasDbXref UMLS:C2677792 ; oboInOwl:hasExactSynonym "RIDL", "radiosensitivity, immunodeficiency, dysmorphic facial features, and learning difficulties", "riddle syndrome" ; + skos:exactMatch UMLS:C2677792 ; biolink:category biolink:Disease . OMIM:611944 a owl:Class ; @@ -440922,21 +457614,21 @@ OMIM:611944 a owl:Class ; PMID:23410910, PMID:24744435 ; RO:0002525 CHR:9606chr6q16.2-q22.1 ; - oboInOwl:hasDbXref UMLS:C4747568 ; oboInOwl:hasExactSynonym "LMPHM2", "lymphatic malformation 2", "lymphedema, hereditary, ib, formerly" ; rdfs:subClassOf OMIMPS:153100 ; + skos:exactMatch UMLS:C4747568 ; biolink:category biolink:Disease . OMIM:611945 a owl:Class ; rdfs:label "spastic paraplegia 37, autosomal dominant" ; IAO:0000142 PMID:17605047 ; RO:0002525 CHR:9606chr8p21.1-q13.3 ; - oboInOwl:hasDbXref UMLS:C2936880 ; oboInOwl:hasExactSynonym "SPG37", "spastic paraplegia 37, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2936880 ; biolink:category biolink:Disease . OMIM:611953 a owl:Class ; @@ -440945,10 +457637,10 @@ OMIM:611953 a owl:Class ; PMID:15479453, PMID:16635487, PMID:25893795 ; - oboInOwl:hasDbXref UMLS:C2677774 ; oboInOwl:hasExactSynonym "ARMD11", "macular degeneration, age-related, 11" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C2677774 ; biolink:category biolink:Disease . OMIM:611958 a owl:Class ; @@ -440957,9 +457649,9 @@ OMIM:611958 a owl:Class ; PMID:18264097, PMID:19767754 ; RO:0002525 CHR:9606chr11q13 ; - oboInOwl:hasDbXref UMLS:C2677772 ; oboInOwl:hasExactSynonym "HPC14", "prostate cancer, hereditary, 14" ; + skos:exactMatch UMLS:C2677772 ; biolink:category biolink:Disease . OMIM:611959 a owl:Class ; @@ -440969,9 +457661,9 @@ OMIM:611959 a owl:Class ; PMID:30033361, PMID:30033362 ; RO:0002525 CHR:9606chr19q13.4 ; - oboInOwl:hasDbXref UMLS:C2677771 ; oboInOwl:hasExactSynonym "HPC15", "prostate cancer, hereditary, 15" ; + skos:exactMatch UMLS:C2677771 ; biolink:category biolink:Disease . OMIM:612004 a owl:Class ; @@ -440979,11 +457671,11 @@ OMIM:612004 a owl:Class ; IAO:0000142 PMID:18345000, PMID:24326104, PMID:30051457 ; - oboInOwl:hasDbXref UMLS:C2677608 ; oboInOwl:hasExactSynonym "THC4", "thrombocytopenia 4", "thrombocytopenia, autosomal dominant, 4" ; rdfs:subClassOf OMIMPS:313900 ; + skos:exactMatch UMLS:C2677608 ; biolink:category biolink:Disease . OMIM:612005 a owl:Class ; @@ -440993,11 +457685,11 @@ OMIM:612005 a owl:Class ; PMID:18311140, PMID:18805825 ; RO:0002525 CHR:9606chr1q31 ; - oboInOwl:hasDbXref UMLS:C2677607 ; oboInOwl:hasExactSynonym "CELIAC7", "celiac disease, susceptibility to, 7", "gluten-sensitive enteropathy, susceptibility to, 7" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C2677607 ; biolink:category biolink:Disease . OMIM:612006 a owl:Class ; @@ -441014,11 +457706,11 @@ OMIM:612006 a owl:Class ; PMID:20560212, PMID:27034373 ; RO:0002525 CHR:9606chr2q11-q12 ; - oboInOwl:hasDbXref UMLS:C2677606 ; oboInOwl:hasExactSynonym "CELIAC8", "celiac disease, susceptibility to, 8", "gluten-sensitive enteropathy, susceptibility to, 8" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C2677606 ; biolink:category biolink:Disease . OMIM:612007 a owl:Class ; @@ -441029,11 +457721,11 @@ OMIM:612007 a owl:Class ; PMID:18805825, PMID:19542083 ; RO:0002525 CHR:9606chr3p21 ; - oboInOwl:hasDbXref UMLS:C2677605 ; oboInOwl:hasExactSynonym "CELIAC9", "celiac disease, susceptibility to, 9", "gluten-sensitive enteropathy, susceptibility to, 9" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C2677605 ; biolink:category biolink:Disease . OMIM:612008 a owl:Class ; @@ -441044,11 +457736,11 @@ OMIM:612008 a owl:Class ; PMID:18805825, PMID:20560212 ; RO:0002525 CHR:9606chr3q25-q26 ; - oboInOwl:hasDbXref UMLS:C2677604 ; oboInOwl:hasExactSynonym "CELIAC10", "celiac disease, susceptibility to, 10", "gluten-sensitive enteropathy, susceptibility to, 10" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C2677604 ; biolink:category biolink:Disease . OMIM:612009 a owl:Class ; @@ -441058,11 +457750,11 @@ OMIM:612009 a owl:Class ; PMID:18311140, PMID:18805825 ; RO:0002525 CHR:9606chr3q28 ; - oboInOwl:hasDbXref UMLS:C2677603 ; oboInOwl:hasExactSynonym "CELIAC11", "celiac disease, susceptibility to, 11", "gluten-sensitive enteropathy, susceptibility to, 11" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C2677603 ; biolink:category biolink:Disease . OMIM:612010 a owl:Class ; @@ -441073,11 +457765,11 @@ OMIM:612010 a owl:Class ; PMID:18805825, PMID:19073967 ; RO:0002525 CHR:9606chr6q25.3 ; - oboInOwl:hasDbXref UMLS:C2677602 ; oboInOwl:hasExactSynonym "CELIAC12", "celiac disease, susceptibility to, 12", "gluten-sensitive enteropathy, susceptibility to, 12" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C2677602 ; biolink:category biolink:Disease . OMIM:612011 a owl:Class ; @@ -441090,11 +457782,11 @@ OMIM:612011 a owl:Class ; PMID:19073967, PMID:20560212 ; RO:0002525 CHR:9606chr12q24 ; - oboInOwl:hasDbXref UMLS:C2677601 ; oboInOwl:hasExactSynonym "CELIAC13", "celiac disease, susceptibility to, 13", "gluten-sensitive enteropathy, susceptibility to, 13" ; rdfs:subClassOf OMIMPS:212750 ; + skos:exactMatch UMLS:C2677601 ; biolink:category biolink:Disease . OMIM:612015 a owl:Class ; @@ -441106,11 +457798,11 @@ OMIM:612015 a owl:Class ; PMID:19856127, PMID:23111317, PMID:9516657 ; - oboInOwl:hasDbXref UMLS:C2677590 ; oboInOwl:hasExactSynonym "CDG1N", "cdg in", "congenital disorder of glycosylation, iia in" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C2677590 ; biolink:category biolink:Disease . OMIM:612016 a owl:Class ; @@ -441120,13 +457812,13 @@ OMIM:612016 a owl:Class ; PMID:18319072, PMID:18319074, PMID:32337771 ; - oboInOwl:hasDbXref UMLS:C2677589, - ORPHA:139485 ; oboInOwl:hasExactSynonym "COQ10D4", "coenzyme Q10 deficiency, primary, 4", "spinocerebellar ataxia, autosomal recessive 9" ; rdfs:subClassOf OMIMPS:213200, OMIMPS:607426 ; + skos:exactMatch UMLS:C2677589, + ORPHA:139485 ; biolink:category biolink:Disease . OMIM:612017 a owl:Class ; @@ -441134,10 +457826,10 @@ OMIM:612017 a owl:Class ; IAO:0000142 PMID:18308288 ; RO:0002525 CHR:9606chr11q14-q22 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C2677588 ; oboInOwl:hasExactSynonym "IHPS3", "pyloric stenosis, infantile hypertrophic, 3" ; rdfs:subClassOf OMIMPS:179010 ; + skos:exactMatch UMLS:C2677588 ; biolink:category biolink:Disease . OMIM:612018 a owl:Class ; @@ -441145,41 +457837,41 @@ OMIM:612018 a owl:Class ; IAO:0000142 PMID:17458810, PMID:18304496, PMID:26376857 ; - oboInOwl:hasDbXref UMLS:C4310806 ; oboInOwl:hasExactSynonym "CTRCT47", "cataract 47", "cataract, juvenile, with microcornea", "cataract, juvenile, with microcornea and glucosuria, formerly" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C4310806 ; biolink:category biolink:Disease . OMIM:612020 a owl:Class ; rdfs:label "spastic paraplegia 39, autosomal recessive" ; IAO:0000142 PMID:18313024, PMID:24355708 ; - oboInOwl:hasDbXref UMLS:C2677586 ; oboInOwl:hasExactSynonym "SPG39", "nte-related motor neuron disorder", "spastic paraplegia 39, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2677586 ; biolink:category biolink:Disease . OMIM:612030 a owl:Class ; rdfs:label "coronary heart disease, susceptibility to, 9" ; IAO:0000142 PMID:17805225 ; RO:0002525 CHR:9606chr8p22 ; - oboInOwl:hasDbXref UMLS:C2677580 ; oboInOwl:hasExactSynonym "CHDS9", "coronary heart disease, susceptibility to, 9" ; + skos:exactMatch UMLS:C2677580 ; biolink:category biolink:Disease . OMIM:612042 a owl:Class ; rdfs:label "recombination rate quantitative trait locus 1" ; IAO:0000142 PMID:18239089, PMID:18239090 ; - oboInOwl:hasDbXref UMLS:C2677576 ; oboInOwl:hasExactSynonym "RRQTL1", "recombination rate quantitative trait locus 1" ; + skos:exactMatch UMLS:C2677576 ; biolink:category biolink:Disease . OMIM:612067 a owl:Class ; @@ -441187,10 +457879,10 @@ OMIM:612067 a owl:Class ; IAO:0000142 PMID:18243799, PMID:18420150, PMID:25142429 ; - oboInOwl:hasDbXref UMLS:C2677567 ; oboInOwl:hasExactSynonym "DYT16", "dystonia 16" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C2677567 ; biolink:category biolink:Disease . OMIM:612069 a owl:Class ; @@ -441212,15 +457904,15 @@ OMIM:612069 a owl:Class ; PMID:21220647, PMID:22539580, PMID:24300238 ; - oboInOwl:hasDbXref UMLS:C2677565, - ORPHA:275872, - ORPHA:803 ; oboInOwl:hasExactSynonym "ALS10", "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia", "frontotemporal dementia with tdp43 inclusions, tardbp-related", "frontotemporal lobar degeneration with tdp43 inclusions, tardbp-related", "ftld-tdp, tardbp-related" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C2677565, + ORPHA:275872, + ORPHA:803 ; biolink:category biolink:Disease . OMIM:612073 a owl:Class ; @@ -441230,11 +457922,11 @@ OMIM:612073 a owl:Class ; PMID:17301081, PMID:17347254, PMID:23759946 ; - oboInOwl:hasDbXref UMLS:C2749864 ; oboInOwl:hasExactSynonym "MTDPS5", "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)", "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, sucla2-related" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C2749864 ; biolink:category biolink:Disease . OMIM:612076 a owl:Class ; @@ -441249,33 +457941,33 @@ OMIM:612076 a owl:Class ; PMID:21810765, PMID:21983786, PMID:25966807 ; - oboInOwl:hasDbXref UMLS:C2677549, - UMLS:C2677550, - UMLS:C2677551, - ORPHA:94088 ; oboInOwl:hasExactSynonym "RHUC2", "gout susceptibility 2", "hypouricemia, renal, 2", "uric acid concentration, serum, quantitative trait locus 2" ; + skos:exactMatch UMLS:C2677549, + UMLS:C2677550, + UMLS:C2677551, + ORPHA:94088 ; biolink:category biolink:Disease . OMIM:612079 a owl:Class ; rdfs:label "alopecia, neurologic defects, and endocrinopathy syndrome" ; IAO:0000142 PMID:18439547, PMID:20231366 ; - oboInOwl:hasDbXref UMLS:C2677535 ; oboInOwl:hasExactSynonym "ANES", "alopecia, neurologic defects, and endocrinopathy syndrome", "ane syndrome" ; + skos:exactMatch UMLS:C2677535 ; biolink:category biolink:Disease . OMIM:612083 a owl:Class ; rdfs:label "muscle strength quantitative trait locus 1" ; IAO:0000142 PMID:18178634 ; RO:0002525 CHR:9606chr14q24.3 ; - oboInOwl:hasDbXref UMLS:C2677532 ; oboInOwl:hasExactSynonym "muscle strength quantitative trait locus 1", "mustqtl1" ; + skos:exactMatch UMLS:C2677532 ; biolink:category biolink:Disease . OMIM:612089 a owl:Class ; @@ -441283,18 +457975,18 @@ OMIM:612089 a owl:Class ; IAO:0000142 PMID:18308935, PMID:9106524 ; RO:0002525 CHR:9606chr13q13.1 ; - oboInOwl:hasDbXref UMLS:C2677524 ; oboInOwl:hasExactSynonym "hypophosphatemic rickets and hyperparathyroidism" ; + skos:exactMatch UMLS:C2677524 ; biolink:category biolink:Disease . OMIM:612096 a owl:Class ; rdfs:label "otosclerosis 8" ; IAO:0000142 PMID:18224337 ; RO:0002525 CHR:9606chr9p13.1-q21.11 ; - oboInOwl:hasDbXref UMLS:C2677515 ; oboInOwl:hasExactSynonym "OTSC8", "otosclerosis 8" ; rdfs:subClassOf OMIMPS:166800 ; + skos:exactMatch UMLS:C2677515 ; biolink:category biolink:Disease . OMIM:612099 a owl:Class ; @@ -441302,9 +457994,9 @@ OMIM:612099 a owl:Class ; IAO:0000142 PMID:8752837 ; RO:0002525 CHR:9606chr9p21 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C2677505 ; oboInOwl:hasExactSynonym "mft2", "trichoepithelioma, multiple familial, 2" ; + skos:exactMatch UMLS:C2677505 ; biolink:category biolink:Disease . OMIM:612100 a owl:Class ; @@ -441319,10 +458011,10 @@ OMIM:612100 a owl:Class ; PMID:19456320, PMID:19582487, PMID:8655659 ; - oboInOwl:hasDbXref UMLS:C2677504 ; oboInOwl:hasExactSynonym "AUTS15", "autism, susceptibility to, 15" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C2677504 ; biolink:category biolink:Disease . OMIM:612108 a owl:Class ; @@ -441332,20 +458024,20 @@ OMIM:612108 a owl:Class ; PMID:19060907, PMID:20081858 ; RO:0002525 CHR:9606chr2q24-q32 ; - oboInOwl:hasDbXref UMLS:C2677501 ; oboInOwl:hasExactSynonym "FGQTL1", "fasting plasma glucose level quantitative trait locus 1" ; + skos:exactMatch UMLS:C2677501 ; biolink:category biolink:Disease . OMIM:612109 a owl:Class ; rdfs:label "oculoauricular syndrome" ; IAO:0000142 PMID:18423520, PMID:25574057 ; - oboInOwl:hasDbXref UMLS:C2677500 ; oboInOwl:hasExactSynonym "OCACS", "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear", "oculoauricular syndrome", "schorderet-munier-franceschetti syndrome" ; + skos:exactMatch UMLS:C2677500 ; biolink:category biolink:Disease . OMIM:612110 a owl:Class ; @@ -441353,9 +458045,9 @@ OMIM:612110 a owl:Class ; IAO:0000142 PMID:18445777, PMID:19801982 ; RO:0002525 CHR:9606chr13q14 ; - oboInOwl:hasDbXref UMLS:C2677499 ; oboInOwl:hasExactSynonym "BMND9", "bone mineral density quantitative trait locus 9" ; + skos:exactMatch UMLS:C2677499 ; biolink:category biolink:Disease . OMIM:612113 a owl:Class ; @@ -441363,18 +458055,18 @@ OMIM:612113 a owl:Class ; IAO:0000142 PMID:18445777, PMID:19801982 ; RO:0002525 CHR:9606chr8q24 ; - oboInOwl:hasDbXref UMLS:C2677498 ; oboInOwl:hasExactSynonym "BMND10", "bone mineral density quantitative trait locus 10" ; + skos:exactMatch UMLS:C2677498 ; biolink:category biolink:Disease . OMIM:612114 a owl:Class ; rdfs:label "bone mineral density quantitative trait locus 11" ; IAO:0000142 PMID:18445777 ; RO:0002525 CHR:9606chr6q25 ; - oboInOwl:hasDbXref UMLS:C2677497 ; oboInOwl:hasExactSynonym "BMND11", "bone mineral density quantitative trait locus 11" ; + skos:exactMatch UMLS:C2677497 ; biolink:category biolink:Disease . OMIM:612119 a owl:Class ; @@ -441384,19 +458076,19 @@ OMIM:612119 a owl:Class ; PMID:28406212, PMID:3227291, PMID:4737205 ; - oboInOwl:hasDbXref UMLS:C0268187 ; oboInOwl:hasExactSynonym "trehalase deficiency", "trehalose intolerance" ; + skos:exactMatch UMLS:C0268187 ; biolink:category biolink:Disease . OMIM:612124 a owl:Class ; rdfs:label "cardiomyopathy, familial hypertrophic, 12" ; IAO:0000142 PMID:12642359, PMID:18505755 ; - oboInOwl:hasDbXref UMLS:C2677491 ; oboInOwl:hasExactSynonym "CMH12", "cardiomyopathy, familial hypertrophic, 12" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C2677491 ; biolink:category biolink:Disease . OMIM:612132 a owl:Class ; @@ -441413,15 +458105,15 @@ OMIM:612132 a owl:Class ; PMID:28417298, PMID:28597146, PMID:29948576 ; - oboInOwl:hasDbXref UMLS:C2677481, - ORPHA:238468, - ORPHA:98813 ; oboInOwl:hasExactSynonym "EDAID2", "ectodermal dysplasia and immunodeficiency 2", "ectodermal dysplasia, anhidrotic, with immunodeficiency 2", "ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant", "ectodermal dysplasia, hypohidrotic, with immunodeficiency 2" ; rdfs:subClassOf OMIMPS:300291 ; + skos:exactMatch UMLS:C2677481, + ORPHA:238468, + ORPHA:98813 ; biolink:category biolink:Disease . OMIM:612160 a owl:Class ; @@ -441430,8 +458122,8 @@ OMIM:612160 a owl:Class ; PMID:15884099, PMID:17724745, PMID:228836 ; - oboInOwl:hasDbXref UMLS:C1266127 ; oboInOwl:hasExactSynonym "histiocytoma, angiomatoid fibrous" ; + skos:exactMatch UMLS:C1266127 ; biolink:category biolink:Disease . OMIM:612161 a owl:Class ; @@ -441441,10 +458133,10 @@ OMIM:612161 a owl:Class ; PMID:23054244 ; RO:0002525 CHR:9606chr11q24-q25 ; RO:0003303 OMIM:7 ; - oboInOwl:hasDbXref UMLS:C2677337 ; oboInOwl:hasExactSynonym "ANIB7", "aneurysm, intracranial berry, 7" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C2677337 ; biolink:category biolink:Disease . OMIM:612162 a owl:Class ; @@ -441454,10 +458146,10 @@ OMIM:612162 a owl:Class ; PMID:18259683 ; RO:0002525 CHR:9606chr14q23 ; RO:0003303 OMIM:8 ; - oboInOwl:hasDbXref UMLS:C2677336 ; oboInOwl:hasExactSynonym "ANIB8", "aneurysm, intracranial berry, 8" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C2677336 ; biolink:category biolink:Disease . OMIM:612164 a owl:Class ; @@ -441470,23 +458162,23 @@ OMIM:612164 a owl:Class ; PMID:21062273, PMID:22211739, PMID:24623842 ; - oboInOwl:hasDbXref UMLS:C2677326, - ORPHA:1934, - ORPHA:33069 ; oboInOwl:hasExactSynonym "DEE4", "developmental and epileptic encephalopathy 4", "epileptic encephalopathy, early infantile, 4" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C2677326, + ORPHA:1934, + ORPHA:33069 ; biolink:category biolink:Disease . OMIM:612165 a owl:Class ; rdfs:label "retinitis pigmentosa 29" ; IAO:0000142 PMID:11381043 ; RO:0002525 CHR:9606chr4q32-q34 ; - oboInOwl:hasDbXref UMLS:C2677325 ; oboInOwl:hasExactSynonym "RP29", "retinitis pigmentosa 29" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C2677325 ; biolink:category biolink:Disease . OMIM:612199 a owl:Class ; @@ -441501,12 +458193,12 @@ OMIM:612199 a owl:Class ; PMID:22532422, PMID:23869908, PMID:3402627 ; - oboInOwl:hasDbXref UMLS:C4552029 ; oboInOwl:hasExactSynonym "CRMCC1", "cerebroretinal microangiopathy with calcifications and cysts 1", "coats plus syndrome", "crmcc" ; rdfs:subClassOf OMIMPS:612199 ; + skos:exactMatch UMLS:C4552029 ; biolink:category biolink:Disease . OMIM:612219 a owl:Class ; @@ -441536,13 +458228,13 @@ OMIM:612219 a owl:Class ; PMID:7700648, PMID:9005992, PMID:9135495 ; - oboInOwl:hasDbXref UMLS:C0553580, - UMLS:C0877849, - UMLS:C3489398 ; oboInOwl:hasExactSynonym "ES", "askin tumor", "ewing sarcoma", "neuroepithelioma, peripheral" ; + skos:exactMatch UMLS:C0553580, + UMLS:C0877849, + UMLS:C3489398 ; biolink:category biolink:Disease . OMIM:612221 a owl:Class ; @@ -441553,9 +458245,9 @@ OMIM:612221 a owl:Class ; PMID:18391952, PMID:19343178 ; RO:0002525 CHR:9606chr3q23 ; - oboInOwl:hasDbXref UMLS:C2677152 ; oboInOwl:hasExactSynonym "STQTL10", "stature quantitative trait locus 10" ; + skos:exactMatch UMLS:C2677152 ; biolink:category biolink:Disease . OMIM:612223 a owl:Class ; @@ -441566,9 +458258,9 @@ OMIM:612223 a owl:Class ; PMID:18391952, PMID:19343178 ; RO:0002525 CHR:9606chr7q21 ; - oboInOwl:hasDbXref UMLS:C2677134 ; oboInOwl:hasExactSynonym "STQTL11", "stature quantitative trait locus 11" ; + skos:exactMatch UMLS:C2677134 ; biolink:category biolink:Disease . OMIM:612224 a owl:Class ; @@ -441578,9 +458270,9 @@ OMIM:612224 a owl:Class ; PMID:18391951, PMID:18391952 ; RO:0002525 CHR:9606chr4q31 ; - oboInOwl:hasDbXref UMLS:C2677133 ; oboInOwl:hasExactSynonym "STQTL12", "stature quantitative trait locus 12" ; + skos:exactMatch UMLS:C2677133 ; biolink:category biolink:Disease . OMIM:612226 a owl:Class ; @@ -441590,9 +458282,9 @@ OMIM:612226 a owl:Class ; PMID:18391952, PMID:19343178 ; RO:0002525 CHR:9606chr4p15.3 ; - oboInOwl:hasDbXref UMLS:C2677131 ; oboInOwl:hasExactSynonym "STQTL13", "stature quantitative trait locus 13" ; + skos:exactMatch UMLS:C2677131 ; biolink:category biolink:Disease . OMIM:612227 a owl:Class ; @@ -441609,9 +458301,9 @@ OMIM:612227 a owl:Class ; PMID:18292467, PMID:18316396, PMID:9203460 ; - oboInOwl:hasDbXref UMLS:C3837958 ; oboInOwl:hasExactSynonym "KPD", "diabetes mellitus, ketosis-prone" ; + skos:exactMatch UMLS:C3837958 ; biolink:category biolink:Disease . OMIM:612228 a owl:Class ; @@ -441622,9 +458314,9 @@ OMIM:612228 a owl:Class ; PMID:18391952, PMID:19343178 ; RO:0002525 CHR:9606chr20q11.22 ; - oboInOwl:hasDbXref UMLS:C2677124 ; oboInOwl:hasExactSynonym "STQTL14", "stature quantitative trait locus 14" ; + skos:exactMatch UMLS:C2677124 ; biolink:category biolink:Disease . OMIM:612229 a owl:Class ; @@ -441632,58 +458324,58 @@ OMIM:612229 a owl:Class ; IAO:0000142 PMID:17934461, PMID:18372901, PMID:18372905 ; - oboInOwl:hasDbXref UMLS:C2677123 ; oboInOwl:hasExactSynonym "CRCS3", "colorectal cancer, susceptibility to, 3", "colorectal cancer, susceptibility to, on chromosome 18" ; + skos:exactMatch UMLS:C2677123 ; biolink:category biolink:Disease . OMIM:612230 a owl:Class ; rdfs:label "colorectal cancer, susceptibility to, 5" ; IAO:0000142 PMID:18372905 ; RO:0002525 CHR:9606chr10p14 ; - oboInOwl:hasDbXref UMLS:C2677122 ; oboInOwl:hasExactSynonym "CRCS5", "colorectal cancer, susceptibility to, 5", "colorectal cancer, susceptibility to, on chromosome 10" ; + skos:exactMatch UMLS:C2677122 ; biolink:category biolink:Disease . OMIM:612231 a owl:Class ; rdfs:label "colorectal cancer, susceptibility to, 6" ; IAO:0000142 PMID:18372905 ; RO:0002525 CHR:9606chr8q23 ; - oboInOwl:hasDbXref UMLS:C2677121 ; oboInOwl:hasExactSynonym "CRCS6", "colorectal cancer, susceptibility to, 6", "colorectal cancer, susceptibility to, on chromosome 8q23" ; + skos:exactMatch UMLS:C2677121 ; biolink:category biolink:Disease . OMIM:612232 a owl:Class ; rdfs:label "colorectal cancer, susceptibility to, 7" ; IAO:0000142 PMID:18372901 ; RO:0002525 CHR:9606chr11q23 ; - oboInOwl:hasDbXref UMLS:C2677120 ; oboInOwl:hasExactSynonym "CRCS7", "colorectal cancer, susceptibility to, 7", "colorectal cancer, susceptibility to, on chromosome 11" ; + skos:exactMatch UMLS:C2677120 ; biolink:category biolink:Disease . OMIM:612238 a owl:Class ; rdfs:label "scoliosis, isolated, susceptibility to, 4" ; IAO:0000142 PMID:17932119 ; RO:0002525 CHR:9606chr9q31.2-q34.2 ; - oboInOwl:hasDbXref UMLS:C2677108 ; oboInOwl:hasExactSynonym "IS4", "scoliosis, isolated, susceptibility to, 4" ; + skos:exactMatch UMLS:C2677108 ; biolink:category biolink:Disease . OMIM:612239 a owl:Class ; rdfs:label "scoliosis, isolated, susceptibility to, 5" ; IAO:0000142 PMID:17932119 ; RO:0002525 CHR:9606chr17q25.3 ; - oboInOwl:hasDbXref UMLS:C2677107 ; oboInOwl:hasExactSynonym "IS5", "scoliosis, isolated, susceptibility to, 5" ; + skos:exactMatch UMLS:C2677107 ; biolink:category biolink:Disease . OMIM:612240 a owl:Class ; @@ -441692,10 +458384,10 @@ OMIM:612240 a owl:Class ; PMID:19343045, PMID:23264583, PMID:9070470 ; - oboInOwl:hasDbXref UMLS:C2677106 ; oboInOwl:hasExactSynonym "ATFB7", "atrial fibrillation, familial, 7" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C2677106 ; biolink:category biolink:Disease . OMIM:612241 a owl:Class ; @@ -441715,10 +458407,10 @@ OMIM:612241 a owl:Class ; PMID:21151127, PMID:7663509 ; RO:0002525 CHR:9606chr3p21.3 ; - oboInOwl:hasDbXref UMLS:C2677105 ; oboInOwl:hasExactSynonym "IBD12", "inflammatory bowel disease 12" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2677105 ; biolink:category biolink:Disease . OMIM:612244 a owl:Class ; @@ -441729,10 +458421,10 @@ OMIM:612244 a owl:Class ; PMID:8841195, PMID:9636179, PMID:9820555 ; - oboInOwl:hasDbXref UMLS:C2677101 ; oboInOwl:hasExactSynonym "IBD13", "inflammatory bowel disease 13" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2677101 ; biolink:category biolink:Disease . OMIM:612251 a owl:Class ; @@ -441745,9 +458437,9 @@ OMIM:612251 a owl:Class ; PMID:18063667, PMID:19838193, PMID:19838195 ; - oboInOwl:hasDbXref UMLS:C2677097 ; oboInOwl:hasExactSynonym "SLEB10", "systemic lupus erythematosus, susceptibility to, 10" ; + skos:exactMatch UMLS:C2677097 ; biolink:category biolink:Disease . OMIM:612253 a owl:Class ; @@ -441758,9 +458450,9 @@ OMIM:612253 a owl:Class ; PMID:19838193, PMID:19838195, PMID:9843982 ; - oboInOwl:hasDbXref UMLS:C2677096 ; oboInOwl:hasExactSynonym "SLEB11", "systemic lupus erythematosus, susceptibility to, 11" ; + skos:exactMatch UMLS:C2677096 ; biolink:category biolink:Disease . OMIM:612254 a owl:Class ; @@ -441768,9 +458460,9 @@ OMIM:612254 a owl:Class ; IAO:0000142 PMID:18204098, PMID:19838193 ; RO:0002525 CHR:9606chr8p23.1 ; - oboInOwl:hasDbXref UMLS:C2677095 ; oboInOwl:hasExactSynonym "SLEB12", "systemic lupus erythematosus, susceptibility to, 12" ; + skos:exactMatch UMLS:C2677095 ; biolink:category biolink:Disease . OMIM:612255 a owl:Class ; @@ -441784,10 +458476,10 @@ OMIM:612255 a owl:Class ; PMID:19174780, PMID:19262523 ; RO:0002525 CHR:9606chr10q21 ; - oboInOwl:hasDbXref UMLS:C2677094 ; oboInOwl:hasExactSynonym "IBD15", "inflammatory bowel disease 15" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2677094 ; biolink:category biolink:Disease . OMIM:612259 a owl:Class ; @@ -441802,10 +458494,10 @@ OMIM:612259 a owl:Class ; PMID:19124533, PMID:9636179 ; RO:0002525 CHR:9606chr9q32 ; - oboInOwl:hasDbXref UMLS:C2677093 ; oboInOwl:hasExactSynonym "IBD16", "inflammatory bowel disease 16" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2677093 ; biolink:category biolink:Disease . OMIM:612262 a owl:Class ; @@ -441819,10 +458511,10 @@ OMIM:612262 a owl:Class ; PMID:18587394, PMID:19174780 ; RO:0002525 CHR:9606chr5p13.1 ; - oboInOwl:hasDbXref UMLS:C2677090 ; oboInOwl:hasExactSynonym "IBD18", "inflammatory bowel disease 18" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2677090 ; biolink:category biolink:Disease . OMIM:612263 a owl:Class ; @@ -441831,30 +458523,30 @@ OMIM:612263 a owl:Class ; PMID:18488027, PMID:18488028 ; RO:0002525 CHR:9606chr20q11.2 ; - oboInOwl:hasDbXref UMLS:C2677089 ; oboInOwl:hasExactSynonym "CMM7", "melanoma, cutaneous malignant, susceptibility to, 7" ; rdfs:subClassOf OMIMPS:155600 ; + skos:exactMatch UMLS:C2677089 ; biolink:category biolink:Disease . OMIM:612267 a owl:Class ; rdfs:label "skin/hair/eye pigmentation, variation in, 10" ; IAO:0000142 PMID:18488028 ; - oboInOwl:hasDbXref UMLS:C2677088 ; oboInOwl:hasExactSynonym "SHEP10", "skin/hair/eye pigmentation 10, blond/brown hair", "skin/hair/eye pigmentation, variation in, 10" ; rdfs:subClassOf OMIMPS:227220 ; + skos:exactMatch UMLS:C2677088 ; biolink:category biolink:Disease . OMIM:612269 a owl:Class ; rdfs:label "epilepsy, childhood absence, susceptibility to, 5" ; IAO:0000142 PMID:16835263, PMID:18514161 ; - oboInOwl:hasDbXref UMLS:C2677087 ; oboInOwl:hasExactSynonym "ECA5", "epilepsy, childhood absence, susceptibility to, 5" ; rdfs:subClassOf OMIMPS:600131 ; + skos:exactMatch UMLS:C2677087 ; biolink:category biolink:Disease . OMIM:612271 a owl:Class ; @@ -441863,12 +458555,12 @@ OMIM:612271 a owl:Class ; PMID:18488028, PMID:21471978, PMID:22556244 ; - oboInOwl:hasDbXref UMLS:C2677086 ; oboInOwl:hasExactSynonym "SHEP11", "melanesian blond hair", "skin/hair/eye pigmentation 11, blue/nonblue eyes", "skin/hair/eye pigmentation, variation in, 11" ; rdfs:subClassOf OMIMPS:227220 ; + skos:exactMatch UMLS:C2677086 ; biolink:category biolink:Disease . OMIM:612274 a owl:Class ; @@ -441877,22 +458569,22 @@ OMIM:612274 a owl:Class ; PMID:18270537 ; RO:0002525 CHR:9606chr15q24-q25 ; RO:0003303 OMIM:8 ; - oboInOwl:hasDbXref UMLS:C2677085 ; oboInOwl:hasExactSynonym "CILD8", "ciliary dyskinesia, primary, 8", "ciliary dyskinesia, primary, 8, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C2677085 ; biolink:category biolink:Disease . OMIM:612279 a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus, iia 6" ; IAO:0000142 PMID:18625863 ; RO:0002525 CHR:9606chr8p23-p21 ; - oboInOwl:hasDbXref UMLS:C2677078 ; oboInOwl:hasExactSynonym "GEFSP6", "gefs+, iia 6", "generalized epilepsy with febrile seizures plus, iia 6" ; rdfs:subClassOf OMIMPS:604233 ; + skos:exactMatch UMLS:C2677078 ; biolink:category biolink:Disease . OMIM:612281 a owl:Class ; @@ -441905,40 +458597,40 @@ OMIM:612281 a owl:Class ; PMID:17557927, PMID:19434086, PMID:20643494 ; - oboInOwl:hasDbXref UMLS:C2677065 ; oboInOwl:hasExactSynonym "ARCI6", "ichthyosis, congenital, autosomal recessive 6", "ichthyosis, congenital, autosomal recessive, nipal4-related" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C2677065 ; biolink:category biolink:Disease . OMIM:612284 a owl:Class ; rdfs:label "meckel syndrome, iia 6" ; IAO:0000142 PMID:18513680, PMID:20671153 ; - oboInOwl:hasDbXref UMLS:C2676790 ; oboInOwl:hasExactSynonym "MKS6", "meckel syndrome, iia 6" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C2676790 ; biolink:category biolink:Disease . OMIM:612286 a owl:Class ; rdfs:label "nephrolithiasis/osteoporosis, hypophosphatemic, 1" ; IAO:0000142 PMID:12324554, PMID:9560283 ; - oboInOwl:hasDbXref UMLS:C2676786 ; oboInOwl:hasExactSynonym "NPHLOP1", "nephrolithiasis/osteoporosis, hypophosphatemic, 1" ; rdfs:subClassOf OMIMPS:612286 ; + skos:exactMatch UMLS:C2676786 ; biolink:category biolink:Disease . OMIM:612287 a owl:Class ; rdfs:label "nephrolithiasis/osteoporosis, hypophosphatemic, 2" ; IAO:0000142 PMID:18784102 ; - oboInOwl:hasDbXref UMLS:C2676782 ; oboInOwl:hasExactSynonym "NPHLOP2", "nephrolithiasis/osteoporosis, hypophosphatemic, 2" ; rdfs:subClassOf OMIMPS:612286 ; + skos:exactMatch UMLS:C2676782 ; biolink:category biolink:Disease . OMIM:612288 a owl:Class ; @@ -441959,10 +458651,10 @@ OMIM:612288 a owl:Class ; PMID:19174780, PMID:20228799 ; RO:0002525 CHR:9606chr10q23-q24 ; - oboInOwl:hasDbXref UMLS:C2676781 ; oboInOwl:hasExactSynonym "IBD20", "inflammatory bowel disease 20" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2676781 ; biolink:category biolink:Disease . OMIM:612290 a owl:Class ; @@ -441970,10 +458662,10 @@ OMIM:612290 a owl:Class ; IAO:0000142 PMID:18394579, PMID:23775976, PMID:27503514 ; - oboInOwl:hasDbXref UMLS:C2676772, - UMLS:C3808166 ; oboInOwl:hasExactSynonym "microtia with or without hearing impairment", "microtia, hearing impairment, and cleft palate" ; + skos:exactMatch UMLS:C2676772, + UMLS:C3808166 ; biolink:category biolink:Disease . OMIM:612291 a owl:Class ; @@ -441981,11 +458673,11 @@ OMIM:612291 a owl:Class ; IAO:0000142 PMID:16541367, PMID:18674751, PMID:25138100 ; - oboInOwl:hasDbXref UMLS:C2676771, - ORPHA:475 ; oboInOwl:hasExactSynonym "JBTS8", "joubert syndrome 8" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C2676771, + ORPHA:475 ; biolink:category biolink:Disease . OMIM:612292 a owl:Class ; @@ -441993,12 +458685,12 @@ OMIM:612292 a owl:Class ; IAO:0000142 PMID:18678320, PMID:27151206, PMID:30690205 ; - oboInOwl:hasDbXref UMLS:C2676770, - ORPHA:166108 ; oboInOwl:hasExactSynonym "BIBARS", "birk-barel mental retardation dysmorphism syndrome", "birk-barel syndrome", "mental retardation with hypotonia and facial dysmorphism" ; + skos:exactMatch UMLS:C2676770, + ORPHA:166108 ; biolink:category biolink:Disease . OMIM:612293 a owl:Class ; @@ -442008,11 +458700,11 @@ OMIM:612293 a owl:Class ; PMID:22983302, PMID:9188872 ; RO:0002525 CHR:9606chr1p31.3-p31.1 ; - oboInOwl:hasDbXref UMLS:C2676769 ; oboInOwl:hasExactSynonym "POROK5", "porokeratosis 5, disseminated superficial actinic iia", "porokeratosis, disseminated superficial actinic, 3" ; rdfs:subClassOf OMIMPS:175800 ; + skos:exactMatch UMLS:C2676769 ; biolink:category biolink:Disease . OMIM:612300 a owl:Class ; @@ -442023,10 +458715,10 @@ OMIM:612300 a owl:Class ; PMID:23149847, PMID:24382084, PMID:7683594 ; - oboInOwl:hasDbXref UMLS:C2676767 ; oboInOwl:hasExactSynonym "HACD59", "cd59 deficiency", "hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy" ; + skos:exactMatch UMLS:C2676767 ; biolink:category biolink:Disease . OMIM:612304 a owl:Class ; @@ -442048,12 +458740,12 @@ OMIM:612304 a owl:Class ; PMID:6139528, PMID:6546411, PMID:8750805 ; - oboInOwl:hasDbXref UMLS:C2676759 ; oboInOwl:hasExactSynonym "THPH4", "proc deficiency, autosomal recessive", "protein c deficiency, autosomal recessive", "thrombophilia due to protein c deficiency, autosomal recessive" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C2676759 ; biolink:category biolink:Disease . OMIM:612306 a owl:Class ; @@ -442062,10 +458754,10 @@ OMIM:612306 a owl:Class ; PMID:18514160, PMID:20826269 ; RO:0002525 CHR:9606chr5q13 ; - oboInOwl:hasDbXref UMLS:C2676758 ; oboInOwl:hasExactSynonym "TSHQTL1", "thyroid-stimulating hormone level quantitative trait locus 1", "thyrotropin quantitative trait locus 1" ; + skos:exactMatch UMLS:C2676758 ; biolink:category biolink:Disease . OMIM:612310 a owl:Class ; @@ -442074,30 +458766,30 @@ OMIM:612310 a owl:Class ; PMID:25314148, PMID:29914564, PMID:30474133 ; - oboInOwl:hasDbXref UMLS:C2676742 ; oboInOwl:hasExactSynonym "POF6", "premature ovarian failure 6" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C2676742 ; biolink:category biolink:Disease . OMIM:612311 a owl:Class ; rdfs:label "attention deficit-hyperactivity disorder, susceptibility to, 5" ; IAO:0000142 PMID:18599010 ; RO:0002525 CHR:9606chr2q21.1 ; - oboInOwl:hasDbXref UMLS:C2676741 ; oboInOwl:hasExactSynonym "adhd5", "attention deficit-hyperactivity disorder, susceptibility to, 5", "motor timing quantitative trait locus" ; + skos:exactMatch UMLS:C2676741 ; biolink:category biolink:Disease . OMIM:612312 a owl:Class ; rdfs:label "attention deficit-hyperactivity disorder, susceptibility to, 6" ; IAO:0000142 PMID:18599010 ; RO:0002525 CHR:9606chr13q12.11 ; - oboInOwl:hasDbXref UMLS:C2676740 ; oboInOwl:hasExactSynonym "adhd6", "attention deficit-hyperactivity disorder, susceptibility to, 6", "digit span quantitative trait locus" ; + skos:exactMatch UMLS:C2676740 ; biolink:category biolink:Disease . OMIM:612313 a owl:Class ; @@ -442119,10 +458811,10 @@ OMIM:612313 a owl:Class ; PMID:28151491, PMID:2918541, PMID:9758599 ; - oboInOwl:hasDbXref UMLS:C2676739 ; oboInOwl:hasExactSynonym "GLASS", "chromosome 2q32-q33 deletion syndrome", "glass syndrome" ; + skos:exactMatch UMLS:C2676739 ; biolink:category biolink:Disease . OMIM:612318 a owl:Class ; @@ -442130,21 +458822,21 @@ OMIM:612318 a owl:Class ; IAO:0000142 PMID:15086549, PMID:8453890, PMID:9640558 ; - oboInOwl:hasDbXref UMLS:C0549150 ; oboInOwl:hasExactSynonym "ingrown hairs", "pfb", "pili incarnati", "pseudofolliculitis barbae" ; + skos:exactMatch UMLS:C0549150 ; biolink:category biolink:Disease . OMIM:612335 a owl:Class ; rdfs:label "spastic paraplegia 38, autosomal dominant" ; IAO:0000142 PMID:18401025 ; RO:0002525 CHR:9606chr4p16-p15 ; - oboInOwl:hasDbXref UMLS:C2676732 ; oboInOwl:hasExactSynonym "SPG38", "spastic paraplegia 38, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2676732 ; biolink:category biolink:Disease . OMIM:612337 a owl:Class ; @@ -442160,14 +458852,14 @@ OMIM:612337 a owl:Class ; PMID:28283832, PMID:29573576, PMID:4073121 ; - oboInOwl:hasDbXref UMLS:C2676727, - UMLS:C3808184 ; oboInOwl:hasExactSynonym "MRD22", "chromosome 1q43-q44 deletion syndrome", "chromosome 1qter deletion syndrome", "intellectual developmental disorder, autosomal dominant 22", "mental retardation, autosomal dominant 22" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C2676727, + UMLS:C3808184 ; biolink:category biolink:Disease . OMIM:612343 a owl:Class ; @@ -442175,8 +458867,8 @@ OMIM:612343 a owl:Class ; IAO:0000142 PMID:18424507, PMID:23118445 ; RO:0002525 CHR:9606chr4q22 ; - oboInOwl:hasDbXref UMLS:C2676725 ; oboInOwl:hasExactSynonym "musical aptitude quantitative trait locus" ; + skos:exactMatch UMLS:C2676725 ; biolink:category biolink:Disease . OMIM:612348 a owl:Class ; @@ -442192,23 +458884,23 @@ OMIM:612348 a owl:Class ; PMID:6890710, PMID:9974431 ; RO:0002525 CHR:9606chr8p12 ; - oboInOwl:hasDbXref UMLS:C2676721, - UMLS:C2676722 ; oboInOwl:hasExactSynonym "THPH9", "hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator", "thrombophilia, familial, due to decreased release of tissue plasminogen activator" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C2676721, + UMLS:C2676722 ; biolink:category biolink:Disease . OMIM:612350 a owl:Class ; rdfs:label "ehlers-danlos syndrome, spondylodysplastic type, 3" ; IAO:0000142 PMID:18513683, PMID:18985159 ; - oboInOwl:hasDbXref UMLS:C2676510 ; oboInOwl:hasExactSynonym "EDSSPD3", "ehlers-danlos syndrome, spondylodysplastic type, 3", "spondylocheirodysplasia, ehlers-danlos syndrome-like" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C2676510 ; biolink:category biolink:Disease . OMIM:612353 a owl:Class ; @@ -442218,12 +458910,12 @@ OMIM:612353 a owl:Class ; PMID:22983302, PMID:9188872 ; RO:0002525 CHR:9606chr18p11.3 ; - oboInOwl:hasDbXref UMLS:C2676508 ; oboInOwl:hasExactSynonym "POROK6", "porokeratosis 6, disseminated superficial", "porokeratosis 6, multiple types", "porokeratosis, disseminated superficial actinic, 4" ; rdfs:subClassOf OMIMPS:175800 ; + skos:exactMatch UMLS:C2676508 ; biolink:category biolink:Disease . OMIM:612354 a owl:Class ; @@ -442236,10 +458928,10 @@ OMIM:612354 a owl:Class ; PMID:18438406, PMID:18587394 ; RO:0002525 CHR:9606chr18p11 ; - oboInOwl:hasDbXref UMLS:C2676507 ; oboInOwl:hasExactSynonym "IBD21", "inflammatory bowel disease 21" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2676507 ; biolink:category biolink:Disease . OMIM:612356 a owl:Class ; @@ -442253,22 +458945,22 @@ OMIM:612356 a owl:Class ; PMID:2863444, PMID:2863445, PMID:8562924 ; - oboInOwl:hasDbXref UMLS:C0398626 ; oboInOwl:hasExactSynonym "hcf 2 deficiency", "hcf2 deficiency", "heparin cofactor 2 deficiency", "thrombophilia due to heparin cofactor 2 deficiency" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C0398626 ; biolink:category biolink:Disease . OMIM:612357 a owl:Class ; rdfs:label "major affective disorder 8" ; IAO:0000142 PMID:18711365 ; RO:0002525 CHR:9606chr10q21 ; - oboInOwl:hasDbXref UMLS:C2700439 ; oboInOwl:hasExactSynonym "MAFD8", "bipolar affective disorder", "major affective disorder 8" ; + skos:exactMatch UMLS:C2700439 ; biolink:category biolink:Disease . OMIM:612361 a owl:Class ; @@ -442276,10 +458968,10 @@ OMIM:612361 a owl:Class ; IAO:0000142 PMID:18677311, PMID:19407193 ; RO:0002525 CHR:9606chr2q32.1 ; - oboInOwl:hasDbXref UMLS:C2677614 ; oboInOwl:hasExactSynonym "schizophrenia 14", "schizophrenia susceptibility locus, chromosome 2q32-related", "sczd14" ; + skos:exactMatch UMLS:C2677614 ; biolink:category biolink:Disease . OMIM:612362 a owl:Class ; @@ -442289,10 +458981,10 @@ OMIM:612362 a owl:Class ; PMID:15611782, PMID:18604207, PMID:9806554 ; - oboInOwl:hasDbXref UMLS:C2676498 ; oboInOwl:hasExactSynonym "BMIQ12", "body mass index quantitative trait locus 12", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C2676498 ; biolink:category biolink:Disease . OMIM:612367 a owl:Class ; @@ -442300,27 +458992,27 @@ OMIM:612367 a owl:Class ; IAO:0000142 PMID:18940312, PMID:22001757 ; RO:0002525 CHR:9606chr1p36 ; - oboInOwl:hasDbXref UMLS:C2676493 ; oboInOwl:hasExactSynonym "alkaline phosphatase, plasma level of, quantitative trait locus 2", "alpqtl2" ; + skos:exactMatch UMLS:C2676493 ; biolink:category biolink:Disease . OMIM:612368 a owl:Class ; rdfs:label "alkaline phosphatase, plasma level of, quantitative trait locus 3" ; IAO:0000142 PMID:18940312 ; RO:0002525 CHR:9606chr6p22 ; - oboInOwl:hasDbXref UMLS:C2676492 ; oboInOwl:hasExactSynonym "alkaline phosphatase, plasma level of, quantitative trait locus 3", "alpqtl3" ; + skos:exactMatch UMLS:C2676492 ; biolink:category biolink:Disease . OMIM:612369 a owl:Class ; rdfs:label "alkaline phosphatase, plasma level of, quantitative trait locus 4" ; IAO:0000142 PMID:18940312 ; RO:0002525 CHR:9606chr10q21 ; - oboInOwl:hasDbXref UMLS:C2676491 ; oboInOwl:hasExactSynonym "alkaline phosphatase, plasma level of, quantitative trait locus 4", "alpqtl4" ; + skos:exactMatch UMLS:C2676491 ; biolink:category biolink:Disease . OMIM:612370 a owl:Class ; @@ -442330,30 +459022,30 @@ OMIM:612370 a owl:Class ; PMID:18074359, PMID:18834967, PMID:25985275 ; - oboInOwl:hasDbXref UMLS:C3552553 ; oboInOwl:hasExactSynonym "HH5", "hypogonadotropic hypogonadism 5 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3552553 ; biolink:category biolink:Disease . OMIM:612371 a owl:Class ; rdfs:label "major affective disorder 7" ; IAO:0000142 PMID:11149935, PMID:12949534 ; - oboInOwl:hasDbXref UMLS:C2700438 ; oboInOwl:hasExactSynonym "MAFD7", "bipolar affective disorder", "major affective disorder 7" ; + skos:exactMatch UMLS:C2700438 ; biolink:category biolink:Disease . OMIM:612372 a owl:Class ; rdfs:label "major affective disorder 9" ; IAO:0000142 PMID:18711365 ; RO:0002525 CHR:9606chr12p13.3 ; - oboInOwl:hasDbXref UMLS:C2700440 ; oboInOwl:hasExactSynonym "MAFD9", "bipolar affective disorder", "major affective disorder 9" ; + skos:exactMatch UMLS:C2700440 ; biolink:category biolink:Disease . OMIM:612378 a owl:Class ; @@ -442364,9 +459056,9 @@ OMIM:612378 a owl:Class ; PMID:20483768, PMID:21336280 ; RO:0002525 CHR:9606chr6q23 ; - oboInOwl:hasDbXref UMLS:C2676487 ; oboInOwl:hasExactSynonym "SLEB13", "systemic lupus erythematosus, susceptibility to, 13" ; + skos:exactMatch UMLS:C2676487 ; biolink:category biolink:Disease . OMIM:612380 a owl:Class ; @@ -442380,10 +459072,10 @@ OMIM:612380 a owl:Class ; PMID:19122664, PMID:20228799 ; RO:0002525 CHR:9606chr17q21.2 ; - oboInOwl:hasDbXref UMLS:C2676485 ; oboInOwl:hasExactSynonym "IBD22", "inflammatory bowel disease 22" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2676485 ; biolink:category biolink:Disease . OMIM:612381 a owl:Class ; @@ -442400,10 +459092,10 @@ OMIM:612381 a owl:Class ; PMID:20228798, PMID:20228799 ; RO:0002525 CHR:9606chr1q32.1 ; - oboInOwl:hasDbXref UMLS:C2676484 ; oboInOwl:hasExactSynonym "IBD23", "inflammatory bowel disease 23" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2676484 ; biolink:category biolink:Disease . OMIM:612387 a owl:Class ; @@ -442412,18 +459104,18 @@ OMIM:612387 a owl:Class ; PMID:15735647, PMID:16080124, PMID:9174158 ; - oboInOwl:hasDbXref UMLS:C2676468 ; oboInOwl:hasExactSynonym "SS2", "sarcoidosis, susceptibility to, 2" ; + skos:exactMatch UMLS:C2676468 ; biolink:category biolink:Disease . OMIM:612388 a owl:Class ; rdfs:label "sarcoidosis, susceptibility to, 3" ; IAO:0000142 PMID:19165924 ; RO:0002525 CHR:9606chr10q22.3 ; - oboInOwl:hasDbXref UMLS:C2676467 ; oboInOwl:hasExactSynonym "SS3", "sarcoidosis, susceptibility to, 3" ; + skos:exactMatch UMLS:C2676467 ; biolink:category biolink:Disease . OMIM:612389 a owl:Class ; @@ -442432,29 +459124,29 @@ OMIM:612389 a owl:Class ; PMID:20952379, PMID:23562994, PMID:8147499 ; - oboInOwl:hasDbXref UMLS:C2676466 ; oboInOwl:hasExactSynonym "PCH2B", "pontocerebellar hypoplasia, iia 2b" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C2676466 ; biolink:category biolink:Disease . OMIM:612390 a owl:Class ; rdfs:label "pontocerebellar hypoplasia, iia 2c" ; IAO:0000142 PMID:18711368, PMID:8147499 ; - oboInOwl:hasDbXref UMLS:C2676465 ; oboInOwl:hasExactSynonym "PCH2C", "pontocerebellar hypoplasia, iia 2c" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C2676465 ; biolink:category biolink:Disease . OMIM:612394 a owl:Class ; rdfs:label "bone fragility with contractures, arterial rupture, and deafness" ; IAO:0000142 PMID:18834968 ; - oboInOwl:hasDbXref UMLS:C2676285 ; oboInOwl:hasExactSynonym "bone fragility with contractures, arterial rupture, and deafness", "lh3 deficiency", "lysyl hydroxylase 3 deficiency" ; + skos:exactMatch UMLS:C2676285 ; biolink:category biolink:Disease . OMIM:612396 a owl:Class ; @@ -442464,20 +459156,21 @@ OMIM:612396 a owl:Class ; PMID:11406280, PMID:12036579, PMID:447647 ; - oboInOwl:hasDbXref UMLS:C3888005 ; oboInOwl:hasExactSynonym "ALLC", "allantoicase" ; - skos:exactMatch HGNC_symbol:ALLC . + skos:exactMatch UMLS:C3888005, + HGNC:17377, + HGNC_symbol:ALLC . OMIM:612400 a owl:Class ; rdfs:label "osteoarthritis susceptibility 5" ; IAO:0000142 PMID:17384641, PMID:17656374, PMID:22929025 ; - oboInOwl:hasDbXref UMLS:C4759728 ; oboInOwl:hasExactSynonym "OS5", "osteoarthritis of hip", "osteoarthritis susceptibility 5" ; + skos:exactMatch UMLS:C4759728 ; biolink:category biolink:Disease . OMIM:612401 a owl:Class ; @@ -442485,30 +459178,30 @@ OMIM:612401 a owl:Class ; IAO:0000142 PMID:18622395, PMID:19181678 ; RO:0002525 CHR:9606chr3p24.3 ; - oboInOwl:hasDbXref UMLS:C0409959 ; oboInOwl:hasExactSynonym "OS6", "osteoarthritis of knee", "osteoarthritis susceptibility 6" ; + skos:exactMatch UMLS:C0409959 ; biolink:category biolink:Disease . OMIM:612406 a owl:Class ; rdfs:label "dystonia 17, torsion, autosomal recessive" ; IAO:0000142 PMID:18688663 ; RO:0002525 CHR:9606chr20p11.2-q13.12 ; - oboInOwl:hasDbXref UMLS:C2676281 ; oboInOwl:hasExactSynonym "DYT17", "dystonia 17, torsion, autosomal recessive" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C2676281 ; biolink:category biolink:Disease . OMIM:612410 a owl:Class ; rdfs:label "psoriasis 10, susceptibility to" ; IAO:0000142 PMID:14632189 ; RO:0002525 CHR:9606chr18p11.23 ; - oboInOwl:hasDbXref UMLS:C3888028 ; oboInOwl:hasExactSynonym "PSORS10", "psoriasis 10, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C3888028 ; biolink:category biolink:Disease . OMIM:612416 a owl:Class ; @@ -442537,22 +459230,22 @@ OMIM:612416 a owl:Class ; PMID:7235815, PMID:7888672, PMID:985704 ; - oboInOwl:hasDbXref UMLS:C0015523 ; oboInOwl:hasExactSynonym "f11 deficiency", "factor 11 deficiency", "plasma thromboplastin antecedent deficiency", "pta deficiency", "rosenthal syndrome" ; + skos:exactMatch UMLS:C0015523 ; biolink:category biolink:Disease . OMIM:612417 a owl:Class ; rdfs:label "narcolepsy 4, susceptibility to" ; IAO:0000142 PMID:18820697 ; RO:0002525 CHR:9606chr22q13 ; - oboInOwl:hasDbXref UMLS:C2676275 ; oboInOwl:hasExactSynonym "NRCLP4", "narcolepsy 4, susceptibility to" ; rdfs:subClassOf OMIMPS:161400 ; + skos:exactMatch UMLS:C2676275 ; biolink:category biolink:Disease . OMIM:612421 a owl:Class ; @@ -442561,10 +459254,10 @@ OMIM:612421 a owl:Class ; PMID:18849994 ; RO:0002525 CHR:9606chr20p11.22 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C2676272 ; oboInOwl:hasExactSynonym "AGA3", "alopecia, androgenetic, 3" ; rdfs:subClassOf OMIMPS:203655 ; + skos:exactMatch UMLS:C2676272 ; biolink:category biolink:Disease . OMIM:612423 a owl:Class ; @@ -442584,20 +459277,20 @@ OMIM:612423 a owl:Class ; PMID:6919394, PMID:694428, PMID:7717377 ; - oboInOwl:hasDbXref UMLS:C0272339 ; oboInOwl:hasExactSynonym "fletcher factor deficiency", "pkk deficiency", "prekallikrein deficiency" ; + skos:exactMatch UMLS:C0272339 ; biolink:category biolink:Disease . OMIM:612433 a owl:Class ; rdfs:label "deafness, autosomal recessive 45" ; IAO:0000142 PMID:18325041 ; RO:0002525 CHR:9606chr1q43-q44 ; - oboInOwl:hasDbXref UMLS:C3888030 ; oboInOwl:hasExactSynonym "DFNB45", "deafness, autosomal recessive 45" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3888030 ; biolink:category biolink:Disease . OMIM:612437 a owl:Class ; @@ -442607,10 +459300,10 @@ OMIM:612437 a owl:Class ; PMID:16376507, PMID:18976727, PMID:21276947 ; - oboInOwl:hasDbXref UMLS:C2676254 ; oboInOwl:hasExactSynonym "EPM1B", "epilepsy, progressive myoclonic, 1b" ; rdfs:subClassOf OMIMPS:254800 ; + skos:exactMatch UMLS:C2676254 ; biolink:category biolink:Disease . OMIM:612438 a owl:Class ; @@ -442626,11 +459319,11 @@ OMIM:612438 a owl:Class ; PMID:24850488, PMID:25085639, PMID:25772097 ; - oboInOwl:hasDbXref UMLS:C2676244 ; oboInOwl:hasExactSynonym "HLD6", "leukodystrophy, hypomyelinating, 6", "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C2676244 ; biolink:category biolink:Disease . OMIM:612444 a owl:Class ; @@ -442639,11 +459332,11 @@ OMIM:612444 a owl:Class ; PMID:12615011, PMID:18950741, PMID:23261302 ; - oboInOwl:hasDbXref UMLS:C2676235 ; oboInOwl:hasExactSynonym "CILD9", "ciliary dyskinesia, primary, 9", "ciliary dyskinesia, primary, 9, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C2676235 ; biolink:category biolink:Disease . OMIM:612448 a owl:Class ; @@ -442652,10 +459345,10 @@ OMIM:612448 a owl:Class ; PMID:18760390, PMID:19901338 ; RO:0002525 CHR:9606chr8q24.13-q24.22 ; - oboInOwl:hasDbXref UMLS:C2676230 ; oboInOwl:hasExactSynonym "ARHI1", "age-related hearing impairment 1", "presbycusis 1" ; + skos:exactMatch UMLS:C2676230 ; biolink:category biolink:Disease . OMIM:612459 a owl:Class ; @@ -442669,9 +459362,9 @@ OMIM:612459 a owl:Class ; PMID:17489846, PMID:18270535 ; RO:0002525 CHR:9606chr2q14.1 ; - oboInOwl:hasDbXref UMLS:C2675915 ; oboInOwl:hasExactSynonym "BMIQ13", "body mass index quantitative trait locus 13" ; + skos:exactMatch UMLS:C2675915 ; biolink:category biolink:Disease . OMIM:612460 a owl:Class ; @@ -442691,10 +459384,10 @@ OMIM:612460 a owl:Class ; PMID:21706003, PMID:22982992, PMID:26287746 ; - oboInOwl:hasDbXref UMLS:C2675914 ; oboInOwl:hasExactSynonym "BMIQ14", "body mass index quantitative trait locus 14", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C2675914 ; biolink:category biolink:Disease . OMIM:612463 a owl:Class ; @@ -442713,10 +459406,10 @@ OMIM:612463 a owl:Class ; PMID:931429, PMID:9506752, PMID:9727013 ; - oboInOwl:hasDbXref UMLS:C0033835 ; oboInOwl:hasExactSynonym "PPHP", "albright hereditary osteodystrophy without multiple hormone resistance", "pseudopseudohypoparathyroidism" ; + skos:exactMatch UMLS:C0033835 ; biolink:category biolink:Disease . OMIM:612514 a owl:Class ; @@ -442726,20 +459419,20 @@ OMIM:612514 a owl:Class ; PMID:15133743, PMID:18987363 ; RO:0002525 CHR:9606chr7q35-q36 ; - oboInOwl:hasDbXref UMLS:C2675874 ; oboInOwl:hasExactSynonym "SLI4", "specific language impairment 4" ; rdfs:subClassOf OMIMPS:606711 ; + skos:exactMatch UMLS:C2675874 ; biolink:category biolink:Disease . OMIM:612518 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 10" ; IAO:0000142 PMID:19052621 ; - oboInOwl:hasDbXref UMLS:C2675867 ; oboInOwl:hasExactSynonym "CILD10", "ciliary dyskinesia, primary, 10", "ciliary dyskinesia, primary, 10, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C2675867 ; biolink:category biolink:Disease . OMIM:612525 a owl:Class ; @@ -442747,10 +459440,10 @@ OMIM:612525 a owl:Class ; IAO:0000142 PMID:18478043 ; RO:0002525 CHR:9606chr16q24.3 ; RO:0003303 OMIM:5 ; - oboInOwl:hasDbXref UMLS:C2675862 ; oboInOwl:hasExactSynonym "IHPS5", "pyloric stenosis, infantile hypertrophic, 5" ; rdfs:subClassOf OMIMPS:179010 ; + skos:exactMatch UMLS:C2675862 ; biolink:category biolink:Disease . OMIM:612527 a owl:Class ; @@ -442759,20 +459452,20 @@ OMIM:612527 a owl:Class ; PMID:19061985, PMID:23718193, PMID:23812780 ; - oboInOwl:hasDbXref UMLS:C2675860 ; oboInOwl:hasExactSynonym "DBA4", "diamond-blackfan anemia 4" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C2675860 ; biolink:category biolink:Disease . OMIM:612528 a owl:Class ; rdfs:label "diamond-blackfan anemia 5" ; IAO:0000142 PMID:18535205, PMID:23812780 ; - oboInOwl:hasDbXref UMLS:C2675859 ; oboInOwl:hasExactSynonym "DBA5", "diamond-blackfan anemia 5" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C2675859 ; biolink:category biolink:Disease . OMIM:612529 a owl:Class ; @@ -442783,30 +459476,30 @@ OMIM:612529 a owl:Class ; PMID:18096894, PMID:23355523, PMID:3150442 ; - oboInOwl:hasDbXref UMLS:C2675858 ; oboInOwl:hasExactSynonym "AI2A2", "amelogenesis imperfecta, hypomaturation type, iia2", "amelogenesis imperfecta, pigmented hypomaturation type, 2" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C2675858 ; biolink:category biolink:Disease . OMIM:612539 a owl:Class ; rdfs:label "spastic paraplegia 42, autosomal dominant" ; IAO:0000142 PMID:19061983, PMID:20461110 ; - oboInOwl:hasDbXref UMLS:C2675528 ; oboInOwl:hasExactSynonym "SPG42", "spastic paraplegia 42, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2675528 ; biolink:category biolink:Disease . OMIM:612540 a owl:Class ; rdfs:label "myopathy, congenital, compton-north" ; IAO:0000142 PMID:12899872, PMID:19026398 ; - oboInOwl:hasDbXref UMLS:C2675527 ; oboInOwl:hasExactSynonym "MYPCN", "myopathy, congenital, compton-north" ; + skos:exactMatch UMLS:C2675527 ; biolink:category biolink:Disease . OMIM:612542 a owl:Class ; @@ -442814,9 +459507,9 @@ OMIM:612542 a owl:Class ; IAO:0000142 PMID:17028506, PMID:18776911, PMID:19303062 ; - oboInOwl:hasDbXref UMLS:C2674252 ; oboInOwl:hasExactSynonym "B12QTL1", "vitamin b12 plasma level quantitative trait locus 1" ; + skos:exactMatch UMLS:C2674252 ; biolink:category biolink:Disease . OMIM:612551 a owl:Class ; @@ -442826,21 +459519,21 @@ OMIM:612551 a owl:Class ; PMID:18794856, PMID:20647424, PMID:24206458 ; - oboInOwl:hasDbXref UMLS:C2675525 ; oboInOwl:hasExactSynonym "FSGS4", "end-stage renal disease, nondiabetic, susceptibility to", "focal segmental glomerulosclerosis 4, susceptibility to" ; rdfs:subClassOf OMIMPS:603278 ; + skos:exactMatch UMLS:C2675525 ; biolink:category biolink:Disease . OMIM:612554 a owl:Class ; rdfs:label "myopia 16, autosomal dominant" ; IAO:0000142 PMID:18421076 ; RO:0002525 CHR:9606chr5p15.33-p15.2 ; - oboInOwl:hasDbXref UMLS:C2675523 ; oboInOwl:hasExactSynonym "MYP16", "myopia 16, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C2675523 ; biolink:category biolink:Disease . OMIM:612556 a owl:Class ; @@ -442856,13 +459549,13 @@ OMIM:612556 a owl:Class ; PMID:18776141, PMID:19761474, PMID:474565 ; - oboInOwl:hasDbXref UMLS:C2675517, - UMLS:C2675518, - UMLS:C2675519 ; oboInOwl:hasExactSynonym "ADIPQTL1", "adiponectin deficiency", "adiponectin, serum level of, quantitative trait locus 1", "hypoadiponectinemia" ; + skos:exactMatch UMLS:C2675517, + UMLS:C2675518, + UMLS:C2675519 ; biolink:category biolink:Disease . OMIM:612557 a owl:Class ; @@ -442870,9 +459563,9 @@ OMIM:612557 a owl:Class ; IAO:0000142 PMID:12407690, PMID:17540169 ; RO:0002525 CHR:9606chr9q34.1 ; - oboInOwl:hasDbXref UMLS:C2675516 ; oboInOwl:hasExactSynonym "clls3", "leukemia, chronic lymphocytic, susceptibility to, 3" ; + skos:exactMatch UMLS:C2675516 ; biolink:category biolink:Disease . OMIM:612558 a owl:Class ; @@ -442881,9 +459574,9 @@ OMIM:612558 a owl:Class ; PMID:20123861, PMID:23897826 ; RO:0002525 CHR:9606chr6p25 ; - oboInOwl:hasDbXref UMLS:C2675515 ; oboInOwl:hasExactSynonym "clls4", "leukemia, chronic lymphocytic, susceptibility to, 4" ; + skos:exactMatch UMLS:C2675515 ; biolink:category biolink:Disease . OMIM:612559 a owl:Class ; @@ -442892,17 +459585,17 @@ OMIM:612559 a owl:Class ; PMID:20639881, PMID:21205967 ; RO:0002525 CHR:9606chr11q24.1 ; - oboInOwl:hasDbXref UMLS:C2675514 ; oboInOwl:hasExactSynonym "clls5", "leukemia, chronic lymphocytic, susceptibility to, 5" ; + skos:exactMatch UMLS:C2675514 ; biolink:category biolink:Disease . OMIM:612560 a owl:Class ; rdfs:label "bone mineral density quantitative trait locus 12" ; IAO:0000142 PMID:18992858 ; - oboInOwl:hasDbXref UMLS:C2675513 ; oboInOwl:hasExactSynonym "BMND12", "bone mineral density quantitative trait locus 12" ; + skos:exactMatch UMLS:C2675513 ; biolink:category biolink:Disease . OMIM:612561 a owl:Class ; @@ -442913,11 +459606,11 @@ OMIM:612561 a owl:Class ; PMID:23812780, PMID:5764780, PMID:714597 ; - oboInOwl:hasDbXref UMLS:C2931850 ; oboInOwl:hasExactSynonym "DBA6", "aase-smith syndrome 2", "diamond-blackfan anemia 6" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C2931850 ; biolink:category biolink:Disease . OMIM:612562 a owl:Class ; @@ -442925,10 +459618,10 @@ OMIM:612562 a owl:Class ; IAO:0000142 PMID:19061985, PMID:23718193, PMID:23812780 ; - oboInOwl:hasDbXref UMLS:C2675512 ; oboInOwl:hasExactSynonym "DBA7", "diamond-blackfan anemia 7" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C2675512 ; biolink:category biolink:Disease . OMIM:612563 a owl:Class ; @@ -442937,10 +459630,10 @@ OMIM:612563 a owl:Class ; PMID:23718193, PMID:23812780, PMID:27882484 ; - oboInOwl:hasDbXref UMLS:C2675511 ; oboInOwl:hasExactSynonym "DBA8", "diamond-blackfan anemia 8" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C2675511 ; biolink:category biolink:Disease . OMIM:612566 a owl:Class ; @@ -442949,10 +459642,10 @@ OMIM:612566 a owl:Class ; PMID:18758464, PMID:19915572 ; RO:0002525 CHR:9606chr20q13 ; - oboInOwl:hasDbXref UMLS:C2675509 ; oboInOwl:hasExactSynonym "IBD24", "inflammatory bowel disease 24" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2675509 ; biolink:category biolink:Disease . OMIM:612571 a owl:Class ; @@ -442963,22 +459656,22 @@ OMIM:612571 a owl:Class ; PMID:19836008, PMID:21725308 ; RO:0002525 CHR:9606chr5p15.33 ; - oboInOwl:hasDbXref UMLS:C2675497 ; oboInOwl:hasExactSynonym "LNCR3", "adenocarcinoma of lung, susceptibility to", "lung cancer susceptibility 3" ; + skos:exactMatch UMLS:C2675497 ; biolink:category biolink:Disease . OMIM:612572 a owl:Class ; rdfs:label "retinitis pigmentosa 46" ; IAO:0000142 PMID:18806796, PMID:31736247 ; - oboInOwl:hasDbXref UMLS:C2675496, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP46", "retinitis pigmentosa 46", "retinitis pigmentosa, autosomal recessive, idh3b-related" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C2675496, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:612573 a owl:Class ; @@ -442986,9 +459679,9 @@ OMIM:612573 a owl:Class ; IAO:0000142 PMID:19110211, PMID:22139419 ; RO:0002525 CHR:9606chr12q24.31 ; - oboInOwl:hasDbXref UMLS:C2675495 ; oboInOwl:hasExactSynonym "MPVCQTL1", "mean platelet volume/count quantitative trait locus 1" ; + skos:exactMatch UMLS:C2675495 ; biolink:category biolink:Disease . OMIM:612574 a owl:Class ; @@ -442996,10 +459689,10 @@ OMIM:612574 a owl:Class ; IAO:0000142 PMID:19110211, PMID:22139419 ; RO:0002525 CHR:9606chr3p21-p13 ; - oboInOwl:hasDbXref UMLS:C2675494 ; oboInOwl:hasExactSynonym "MPVCQTL2", "mean platelet volume/count quantitative trait locus 2", "platelet count quantitative trait locus 1" ; + skos:exactMatch UMLS:C2675494 ; biolink:category biolink:Disease . OMIM:612575 a owl:Class ; @@ -443007,48 +459700,48 @@ OMIM:612575 a owl:Class ; IAO:0000142 PMID:19110211, PMID:22139419 ; RO:0002525 CHR:9606chr17q11.2 ; - oboInOwl:hasDbXref UMLS:C2675493 ; oboInOwl:hasExactSynonym "MPVCQTL3", "mean platelet volume/count quantitative trait locus 3" ; + skos:exactMatch UMLS:C2675493 ; biolink:category biolink:Disease . OMIM:612578 a owl:Class ; rdfs:label "stature quantitative trait locus 15" ; IAO:0000142 PMID:18491143 ; RO:0002525 CHR:9606chr8q21.13 ; - oboInOwl:hasDbXref UMLS:C2675490 ; oboInOwl:hasExactSynonym "STQTL15", "stature quantitative trait locus 15" ; + skos:exactMatch UMLS:C2675490 ; biolink:category biolink:Disease . OMIM:612579 a owl:Class ; rdfs:label "stature quantitative trait locus 16" ; IAO:0000142 PMID:18491143 ; RO:0002525 CHR:9606chr15q22.32 ; - oboInOwl:hasDbXref UMLS:C2675489 ; oboInOwl:hasExactSynonym "STQTL16", "stature quantitative trait locus 16" ; + skos:exactMatch UMLS:C2675489 ; biolink:category biolink:Disease . OMIM:612580 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 3" ; IAO:0000142 PMID:19012874 ; - oboInOwl:hasDbXref UMLS:C2675488 ; oboInOwl:hasExactSynonym "MRD3", "intellectual developmental disorder, autosomal dominant 3", "mental retardation, autosomal dominant 3" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C2675488 ; biolink:category biolink:Disease . OMIM:612581 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 4" ; IAO:0000142 PMID:19012874 ; RO:0002525 CHR:9606chr11q24.2 ; - oboInOwl:hasDbXref UMLS:C2675487 ; oboInOwl:hasExactSynonym "MRD4", "intellectual developmental disorder, autosomal dominant 4", "mental retardation, autosomal dominant 4" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C2675487 ; biolink:category biolink:Disease . OMIM:612586 a owl:Class ; @@ -443059,10 +459752,10 @@ OMIM:612586 a owl:Class ; PMID:6112389, PMID:8255472 ; RO:0002525 CHR:9606chr2q33.1 ; - oboInOwl:hasDbXref UMLS:C2675485 ; oboInOwl:hasExactSynonym "ANIB9", "aneurysm, intracranial berry, 9" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C2675485 ; biolink:category biolink:Disease . OMIM:612587 a owl:Class ; @@ -443071,10 +459764,10 @@ OMIM:612587 a owl:Class ; PMID:18997786, PMID:20364137 ; RO:0002525 CHR:9606chr8q12.1 ; - oboInOwl:hasDbXref UMLS:C2675484 ; oboInOwl:hasExactSynonym "ANIB10", "aneurysm, intracranial berry, 10" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C2675484 ; biolink:category biolink:Disease . OMIM:612589 a owl:Class ; @@ -443083,10 +459776,10 @@ OMIM:612589 a owl:Class ; PMID:18372905, PMID:19011631 ; RO:0002525 CHR:9606chr14q22.2 ; - oboInOwl:hasDbXref UMLS:C2675483 ; oboInOwl:hasExactSynonym "CRCS8", "colorectal cancer, susceptibility to, 8", "colorectal cancer, susceptibility to, on chromosome 14q" ; + skos:exactMatch UMLS:C2675483 ; biolink:category biolink:Disease . OMIM:612590 a owl:Class ; @@ -443095,10 +459788,10 @@ OMIM:612590 a owl:Class ; PMID:18372905, PMID:19011631 ; RO:0002525 CHR:9606chr16q22.1 ; - oboInOwl:hasDbXref UMLS:C2675482 ; oboInOwl:hasExactSynonym "CRCS9", "colorectal cancer, susceptibility to, 9", "colorectal cancer, susceptibility to, on chromosome 16q" ; + skos:exactMatch UMLS:C2675482 ; biolink:category biolink:Disease . OMIM:612591 a owl:Class ; @@ -443109,10 +459802,10 @@ OMIM:612591 a owl:Class ; PMID:23263490, PMID:24501277, PMID:26133394 ; - oboInOwl:hasDbXref UMLS:C2675481 ; oboInOwl:hasExactSynonym "CRCS10", "colorectal cancer, susceptibility to, 10", "colorectal cancer, susceptibility to, on chromosome 19q" ; + skos:exactMatch UMLS:C2675481 ; biolink:category biolink:Disease . OMIM:612592 a owl:Class ; @@ -443121,19 +459814,19 @@ OMIM:612592 a owl:Class ; PMID:18372905, PMID:19011631 ; RO:0002525 CHR:9606chr20p12.3 ; - oboInOwl:hasDbXref UMLS:C2675480 ; oboInOwl:hasExactSynonym "CRCS11", "colorectal cancer, susceptibility to, 11", "colorectal cancer, susceptibility to, on chromosome 20p" ; + skos:exactMatch UMLS:C2675480 ; biolink:category biolink:Disease . OMIM:612593 a owl:Class ; rdfs:label "lung cancer susceptibility 4" ; IAO:0000142 PMID:18978787 ; RO:0002525 CHR:9606chr6p21.33 ; - oboInOwl:hasDbXref UMLS:C2675479 ; oboInOwl:hasExactSynonym "LNCR4", "lung cancer susceptibility 4" ; + skos:exactMatch UMLS:C2675479 ; biolink:category biolink:Disease . OMIM:612594 a owl:Class ; @@ -443142,10 +459835,10 @@ OMIM:612594 a owl:Class ; PMID:19155502, PMID:19506219 ; RO:0002525 CHR:9606chr10p15.1 ; - oboInOwl:hasDbXref UMLS:C2675478 ; oboInOwl:hasExactSynonym "MS2", "multiple sclerosis, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:126200 ; + skos:exactMatch UMLS:C2675478 ; biolink:category biolink:Disease . OMIM:612595 a owl:Class ; @@ -443158,10 +459851,10 @@ OMIM:612595 a owl:Class ; PMID:19506219, PMID:21670443 ; RO:0002525 CHR:9606chr5p13.2 ; - oboInOwl:hasDbXref UMLS:C2675477 ; oboInOwl:hasExactSynonym "MS3", "multiple sclerosis, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:126200 ; + skos:exactMatch UMLS:C2675477 ; biolink:category biolink:Disease . OMIM:612596 a owl:Class ; @@ -443171,10 +459864,10 @@ OMIM:612596 a owl:Class ; PMID:20502484, PMID:21606458 ; RO:0002525 CHR:9606chr1p36 ; - oboInOwl:hasDbXref UMLS:C2675476 ; oboInOwl:hasExactSynonym "MS4", "multiple sclerosis, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:126200 ; + skos:exactMatch UMLS:C2675476 ; biolink:category biolink:Disease . OMIM:612599 a owl:Class ; @@ -443187,10 +459880,10 @@ OMIM:612599 a owl:Class ; PMID:19169254, PMID:19169255 ; RO:0002525 CHR:9606chr5q31.1-q33.1 ; - oboInOwl:hasDbXref UMLS:C2675475 ; oboInOwl:hasExactSynonym "PSORS11", "psoriasis 11, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C2675475 ; biolink:category biolink:Disease . OMIM:612621 a owl:Class ; @@ -443201,11 +459894,11 @@ OMIM:612621 a owl:Class ; PMID:23161826, PMID:23708187, PMID:26989088 ; - oboInOwl:hasDbXref UMLS:C2675473 ; oboInOwl:hasExactSynonym "MRD5", "intellectual developmental disorder, autosomal dominant 5", "mental retardation, autosomal dominant 5" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C2675473 ; biolink:category biolink:Disease . OMIM:612622 a owl:Class ; @@ -443217,22 +459910,22 @@ OMIM:612622 a owl:Class ; PMID:18978792, PMID:8072542 ; RO:0002525 CHR:9606chr4q27 ; - oboInOwl:hasDbXref UMLS:C2675472 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 23", "T1D23", "diabetes mellitus, insulin-dependent, 23" ; + skos:exactMatch UMLS:C2675472 ; biolink:category biolink:Disease . OMIM:612623 a owl:Class ; rdfs:label "microvascular complications of diabetes, susceptibility to, 2" ; IAO:0000142 PMID:16120858, PMID:18458324 ; - oboInOwl:hasDbXref UMLS:C2675471 ; oboInOwl:hasExactSynonym "MVCD2", "end-stage renal disease, diabetic, susceptibility to", "microvascular complications of diabetes, susceptibility to, 2", "proliferative retinopathy, diabetic, susceptibility to" ; rdfs:subClassOf OMIMPS:603933 ; + skos:exactMatch UMLS:C2675471 ; biolink:category biolink:Disease . OMIM:612627 a owl:Class ; @@ -443240,31 +459933,31 @@ OMIM:612627 a owl:Class ; IAO:0000142 PMID:18811698 ; RO:0002525 CHR:9606chr1p36.12-p35.1 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C2675462 ; oboInOwl:hasExactSynonym "BFIS4", "convulsions, benign familial infantile, 4", "seizures, benign familial infantile, 4" ; rdfs:subClassOf OMIMPS:601764 ; + skos:exactMatch UMLS:C2675462 ; biolink:category biolink:Disease . OMIM:612628 a owl:Class ; rdfs:label "microvascular complications of diabetes, susceptibility to, 4" ; IAO:0000142 PMID:15286433, PMID:8786086 ; - oboInOwl:hasDbXref UMLS:C2675112 ; oboInOwl:hasExactSynonym "MVCD4", "microvascular complications of diabetes, susceptibility to, 4", "nephropathy, diabetic, susceptibility to" ; rdfs:subClassOf OMIMPS:603933 ; + skos:exactMatch UMLS:C2675112 ; biolink:category biolink:Disease . OMIM:612629 a owl:Class ; rdfs:label "adiponectin, serum level of, quantitative trait locus 4" ; IAO:0000142 PMID:16894363 ; RO:0002525 CHR:9606chr11q23-q24 ; - oboInOwl:hasDbXref UMLS:C2675461 ; oboInOwl:hasExactSynonym "ADIPQTL4", "adiponectin, serum level of, quantitative trait locus 4" ; + skos:exactMatch UMLS:C2675461 ; biolink:category biolink:Disease . OMIM:612630 a owl:Class ; @@ -443274,10 +459967,10 @@ OMIM:612630 a owl:Class ; PMID:18561327, PMID:18704500, PMID:4713565 ; - oboInOwl:hasDbXref UMLS:C2675460 ; oboInOwl:hasExactSynonym "HRM1", "hair morphology 1", "hair thickness, variation 1n" ; + skos:exactMatch UMLS:C2675460 ; biolink:category biolink:Disease . OMIM:612631 a owl:Class ; @@ -443294,8 +459987,8 @@ OMIM:612631 a owl:Class ; PMID:6308059, PMID:7947281, PMID:9432020 ; - oboInOwl:hasDbXref UMLS:C2675459 ; oboInOwl:hasExactSynonym "adenylate kinase deficiency, hemolytic anemia due to" ; + skos:exactMatch UMLS:C2675459 ; biolink:category biolink:Disease . OMIM:612632 a owl:Class ; @@ -443304,10 +459997,10 @@ OMIM:612632 a owl:Class ; PMID:23023331, PMID:2909824 ; RO:0002525 CHR:9606chr15q22-q23 ; - oboInOwl:hasDbXref UMLS:C2675458 ; oboInOwl:hasExactSynonym "USH1H", "usher syndrome, iia 1h" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C2675458 ; biolink:category biolink:Disease . OMIM:612634 a owl:Class ; @@ -443315,11 +460008,11 @@ OMIM:612634 a owl:Class ; IAO:0000142 PMID:12624725, PMID:16538174, PMID:17192491 ; - oboInOwl:hasDbXref UMLS:C2675128 ; oboInOwl:hasExactSynonym "MVCD6", "microvascular complications of diabetes, susceptibility to, 6", "nephropathy, diabetic, susceptibility to" ; rdfs:subClassOf OMIMPS:603933 ; + skos:exactMatch UMLS:C2675128 ; biolink:category biolink:Disease . OMIM:612637 a owl:Class ; @@ -443327,11 +460020,11 @@ OMIM:612637 a owl:Class ; IAO:0000142 PMID:18830713 ; RO:0002525 CHR:9606chr3q26.2-q26.33 ; RO:0003303 OMIM:10 ; - oboInOwl:hasDbXref UMLS:C2675251 ; oboInOwl:hasExactSynonym "FEB10", "convulsions, familial febrile, 10", "febrile seizures, familial, 10" ; rdfs:subClassOf OMIMPS:121210 ; + skos:exactMatch UMLS:C2675251 ; biolink:category biolink:Disease . OMIM:612639 a owl:Class ; @@ -443339,20 +460032,20 @@ OMIM:612639 a owl:Class ; IAO:0000142 PMID:19122664, PMID:20228799 ; RO:0002525 CHR:9606chr12q15 ; - oboInOwl:hasDbXref UMLS:C2675249 ; oboInOwl:hasExactSynonym "IBD26", "inflammatory bowel disease 26" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2675249 ; biolink:category biolink:Disease . OMIM:612642 a owl:Class ; rdfs:label "deafness, autosomal dominant 59" ; IAO:0000142 PMID:19030898 ; RO:0002525 CHR:9606chr11p14.2-q12.3 ; - oboInOwl:hasDbXref UMLS:C2675238 ; oboInOwl:hasExactSynonym "DFNA59", "deafness, autosomal dominant 59" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C2675238 ; biolink:category biolink:Disease . OMIM:612649 a owl:Class ; @@ -443360,11 +460053,11 @@ OMIM:612649 a owl:Class ; IAO:0000142 PMID:19200523, PMID:23798057, PMID:23993197 ; - oboInOwl:hasDbXref UMLS:C2675229 ; oboInOwl:hasExactSynonym "CILD11", "ciliary dyskinesia, primary, 11", "ciliary dyskinesia, primary, 11, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C2675229 ; biolink:category biolink:Disease . OMIM:612650 a owl:Class ; @@ -443373,11 +460066,11 @@ OMIM:612650 a owl:Class ; PMID:19200523, PMID:20070851, PMID:23993197 ; - oboInOwl:hasDbXref UMLS:C2675228 ; oboInOwl:hasExactSynonym "CILD12", "ciliary dyskinesia, primary, 12", "ciliary dyskinesia, primary, 12, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C2675228 ; biolink:category biolink:Disease . OMIM:612656 a owl:Class ; @@ -443385,20 +460078,20 @@ OMIM:612656 a owl:Class ; IAO:0000142 PMID:16116111, PMID:19139306, PMID:25497598 ; - oboInOwl:hasDbXref UMLS:C2675211 ; oboInOwl:hasExactSynonym "EA6", "episodic ataxia, iia 6" ; rdfs:subClassOf OMIMPS:160120 ; + skos:exactMatch UMLS:C2675211 ; biolink:category biolink:Disease . OMIM:612671 a owl:Class ; rdfs:label "uric acid concentration, serum, quantitative trait locus 4" ; IAO:0000142 PMID:18834626, PMID:20810651 ; - oboInOwl:hasDbXref UMLS:C2675207 ; oboInOwl:hasExactSynonym "UAQTL4", "gout susceptibility 4", "uric acid concentration, serum, quantitative trait locus 4" ; + skos:exactMatch UMLS:C2675207 ; biolink:category biolink:Disease . OMIM:612674 a owl:Class ; @@ -443406,10 +460099,10 @@ OMIM:612674 a owl:Class ; IAO:0000142 PMID:19005174, PMID:20797687, PMID:24697911 ; - oboInOwl:hasDbXref UMLS:C2675204, - ORPHA:171848 ; oboInOwl:hasExactSynonym "PHARC", "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" ; + skos:exactMatch UMLS:C2675204, + ORPHA:171848 ; biolink:category biolink:Disease . OMIM:612690 a owl:Class ; @@ -443422,21 +460115,21 @@ OMIM:612690 a owl:Class ; PMID:4830746, PMID:7772513, PMID:7803799 ; - oboInOwl:hasDbXref UMLS:C2675192 ; oboInOwl:hasExactSynonym "SPH5", "spherocytosis, iia 5", "spherocytosis, hereditary, 5" ; + skos:exactMatch UMLS:C2675192 ; biolink:category biolink:Disease . OMIM:612692 a owl:Class ; rdfs:label "agammaglobulinemia 6, autosomal recessive" ; IAO:0000142 PMID:17675462, PMID:17709424 ; - oboInOwl:hasDbXref UMLS:C3150207 ; oboInOwl:hasExactSynonym "AGM6", "agammaglobulinemia 6, autosomal recessive", "agammaglobulinemia, autosomal recessive, due to cd79b defect" ; rdfs:subClassOf OMIMPS:601495 ; + skos:exactMatch UMLS:C3150207 ; biolink:category biolink:Disease . OMIM:612702 a owl:Class ; @@ -443444,10 +460137,10 @@ OMIM:612702 a owl:Class ; IAO:0000142 PMID:17761590, PMID:18596921, PMID:20463092 ; - oboInOwl:hasDbXref UMLS:C3552574 ; oboInOwl:hasExactSynonym "HH6", "hypogonadotropic hypogonadism 6 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3552574 ; biolink:category biolink:Disease . OMIM:612703 a owl:Class ; @@ -443456,10 +460149,10 @@ OMIM:612703 a owl:Class ; PMID:20978018, PMID:22989186, PMID:25218063 ; - oboInOwl:hasDbXref UMLS:C2675187 ; oboInOwl:hasExactSynonym "MCPH7", "microcephaly 7, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C2675187 ; biolink:category biolink:Disease . OMIM:612712 a owl:Class ; @@ -443471,30 +460164,30 @@ OMIM:612712 a owl:Class ; PMID:18779497, PMID:19140180, PMID:9799089 ; - oboInOwl:hasDbXref UMLS:C2675186, - UMLS:C3150208 ; oboInOwl:hasExactSynonym "LCA13", "leber congenital amaurosis 13", "retinitis pigmentosa 53" ; rdfs:subClassOf OMIMPS:204000, OMIMPS:268000 ; + skos:exactMatch UMLS:C2675186, + UMLS:C3150208 ; biolink:category biolink:Disease . OMIM:612713 a owl:Class ; rdfs:label "kahrizi syndrome" ; IAO:0000142 PMID:18781183, PMID:20700148 ; - oboInOwl:hasDbXref UMLS:C2675185 ; oboInOwl:hasExactSynonym "KHRZ", "kahrizi syndrome", "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive" ; + skos:exactMatch UMLS:C2675185 ; biolink:category biolink:Disease . OMIM:612714 a owl:Class ; rdfs:label "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" ; IAO:0000142 PMID:19268275 ; - oboInOwl:hasDbXref UMLS:C2675184 ; oboInOwl:hasExactSynonym "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" ; + skos:exactMatch UMLS:C2675184 ; biolink:category biolink:Disease . OMIM:612715 a owl:Class ; @@ -443502,10 +460195,10 @@ OMIM:612715 a owl:Class ; IAO:0000142 PMID:18462451, PMID:23519333 ; RO:0002525 CHR:9606chr12q21-q23 ; - oboInOwl:hasDbXref UMLS:C2675183 ; oboInOwl:hasExactSynonym "DUH2", "dyschromatosis universalis hereditaria 2" ; rdfs:subClassOf OMIMPS:127500 ; + skos:exactMatch UMLS:C2675183 ; biolink:category biolink:Disease . OMIM:612716 a owl:Class ; @@ -443521,20 +460214,20 @@ OMIM:612716 a owl:Class ; PMID:22522443, PMID:26123188, PMID:9700606 ; - oboInOwl:hasDbXref UMLS:C0268468 ; oboInOwl:hasExactSynonym "dystonia, dopa-responsive, due to sepiapterin reductase deficiency", "sepiapterin reductase deficiency", "spr deficiency" ; + skos:exactMatch UMLS:C0268468 ; biolink:category biolink:Disease . OMIM:612717 a owl:Class ; rdfs:label "myopia 15, autosomal dominant" ; IAO:0000142 PMID:17327828 ; RO:0002525 CHR:9606chr10q21.1 ; - oboInOwl:hasDbXref UMLS:C2675180 ; oboInOwl:hasExactSynonym "MYP15", "myopia 15, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C2675180 ; biolink:category biolink:Disease . OMIM:612725 a owl:Class ; @@ -443542,21 +460235,22 @@ OMIM:612725 a owl:Class ; IAO:0000142 PMID:16769727, PMID:9013334, PMID:9143513 ; - oboInOwl:hasDbXref UMLS:C1418853 ; oboInOwl:hasExactSynonym "PPP6C", "protein phosphatase 6, catalytic subunit" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5537 ; - skos:exactMatch HGNC_symbol:PPP6C ; + skos:exactMatch UMLS:C1418853, + HGNC:9323, + HGNC_symbol:PPP6C ; biolink:category biolink:Gene . OMIM:612727 a owl:Class ; rdfs:label "bone mineral density quantitative trait locus 13" ; IAO:0000142 PMID:19249006 ; RO:0002525 CHR:9606chr16q23 ; - oboInOwl:hasDbXref UMLS:C2674801 ; oboInOwl:hasExactSynonym "BMND13", "bone mineral density quantitative trait locus 13" ; + skos:exactMatch UMLS:C2674801 ; biolink:category biolink:Disease . OMIM:612728 a owl:Class ; @@ -443564,18 +460258,18 @@ OMIM:612728 a owl:Class ; IAO:0000142 PMID:19249006, PMID:19801982 ; RO:0002525 CHR:9606chr1p33-p32 ; - oboInOwl:hasDbXref UMLS:C2674800 ; oboInOwl:hasExactSynonym "BMND14", "bone mineral density quantitative trait locus 14" ; + skos:exactMatch UMLS:C2674800 ; biolink:category biolink:Disease . OMIM:612729 a owl:Class ; rdfs:label "lean body mass quantitative trait locus 1" ; IAO:0000142 PMID:19268274 ; RO:0002525 CHR:9606chr8q23 ; - oboInOwl:hasDbXref UMLS:C2674799 ; oboInOwl:hasExactSynonym "LBMQTL1", "lean body mass quantitative trait locus 1" ; + skos:exactMatch UMLS:C2674799 ; biolink:category biolink:Disease . OMIM:612736 a owl:Class ; @@ -443591,14 +460285,14 @@ OMIM:612736 a owl:Class ; PMID:7808840, PMID:8651275, PMID:9386672 ; - oboInOwl:hasDbXref UMLS:C0574080, - ORPHA:382 ; oboInOwl:hasExactSynonym "CCDS2", "cerebral creatine deficiency syndrome 2", "creatine deficiency syndrome due to gamt deficiency", "gamt deficiency", "guanidinoacetate methyltransferase deficiency" ; rdfs:subClassOf OMIMPS:300352 ; + skos:exactMatch UMLS:C0574080, + ORPHA:382 ; biolink:category biolink:Disease . OMIM:612737 a owl:Class ; @@ -443607,9 +460301,9 @@ OMIM:612737 a owl:Class ; PMID:18952825, PMID:19343178 ; RO:0002525 CHR:9606chr7p15 ; - oboInOwl:hasDbXref UMLS:C2674783 ; oboInOwl:hasExactSynonym "STQTL17", "stature quantitative trait locus 17" ; + skos:exactMatch UMLS:C2674783 ; biolink:category biolink:Disease . OMIM:612740 a owl:Class ; @@ -443634,8 +460328,6 @@ OMIM:612740 a owl:Class ; PMID:7104498, PMID:7287003, PMID:7450139 ; - oboInOwl:hasDbXref UMLS:C0268328, - UMLS:C2748608 ; oboInOwl:hasExactSynonym "alad deficiency", "delta-aminolevulinate dehydratase deficiency", "doss porphyria", @@ -443643,6 +460335,8 @@ OMIM:612740 a owl:Class ; "porphobilinogen synthase deficiency", "porphyria, acute hepatic", "porphyria, alad" ; + skos:exactMatch UMLS:C0268328, + UMLS:C2748608 ; biolink:category biolink:Disease . OMIM:612759 a owl:Class ; @@ -443656,9 +460350,9 @@ OMIM:612759 a owl:Class ; PMID:7600084, PMID:8983047 ; RO:0002525 CHR:9606chr2q24.1 ; - oboInOwl:hasDbXref UMLS:C0233778 ; oboInOwl:hasExactSynonym "synesthesia", "synsth" ; + skos:exactMatch UMLS:C0233778 ; biolink:category biolink:Disease . OMIM:612775 a owl:Class ; @@ -443666,10 +460360,10 @@ OMIM:612775 a owl:Class ; IAO:0000142 PMID:11581183, PMID:19409519, PMID:25091951 ; - oboInOwl:hasDbXref UMLS:C1423873 ; oboInOwl:hasExactSynonym "CORD9", "cone-rod dystrophy 9" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C1423873 ; biolink:category biolink:Disease . OMIM:612780 a owl:Class ; @@ -443679,22 +460373,22 @@ OMIM:612780 a owl:Class ; PMID:19289823, PMID:19420365, PMID:21849804 ; - oboInOwl:hasDbXref UMLS:C2748572 ; oboInOwl:hasExactSynonym "SESAMES", "east syndrome", "epilepsy, ataxia, sensorineural deafness, and tubulopathy", "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance", "sesame syndrome" ; + skos:exactMatch UMLS:C2748572 ; biolink:category biolink:Disease . OMIM:612789 a owl:Class ; rdfs:label "deafness, autosomal recessive 71" ; IAO:0000142 PMID:19229252 ; RO:0002525 CHR:9606chr8p22-p21.3 ; - oboInOwl:hasDbXref UMLS:C2748554 ; oboInOwl:hasExactSynonym "DFNB71", "deafness, autosomal recessive 71" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C2748554 ; biolink:category biolink:Disease . OMIM:612795 a owl:Class ; @@ -443707,9 +460401,9 @@ OMIM:612795 a owl:Class ; PMID:27341449, PMID:30101502 ; RO:0002525 CHR:9606chr11q12-q13.1 ; - oboInOwl:hasDbXref UMLS:C2748551 ; oboInOwl:hasExactSynonym "PUFAQTL1", "polyunsaturated fatty acids plasma level quantitative trait locus 1" ; + skos:exactMatch UMLS:C2748551 ; biolink:category biolink:Disease . OMIM:612796 a owl:Class ; @@ -443717,20 +460411,20 @@ OMIM:612796 a owl:Class ; IAO:0000142 PMID:18246054, PMID:19915573 ; RO:0002525 CHR:9606chr13q13.3 ; - oboInOwl:hasDbXref UMLS:C2748550 ; oboInOwl:hasExactSynonym "IBD27", "inflammatory bowel disease 27" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2748550 ; biolink:category biolink:Disease . OMIM:612813 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, aggrecan iia" ; IAO:0000142 PMID:19110214, PMID:30124491 ; - oboInOwl:hasDbXref UMLS:C2748544 ; oboInOwl:hasExactSynonym "SEMDAG", "semd, aggrecan iia", "spondyloepimetaphyseal dysplasia, aggrecan iia" ; + skos:exactMatch UMLS:C2748544 ; biolink:category biolink:Disease . OMIM:612840 a owl:Class ; @@ -443748,12 +460442,12 @@ OMIM:612840 a owl:Class ; PMID:20357244, PMID:21441448, PMID:9312170 ; - oboInOwl:hasDbXref UMLS:C2748536 ; oboInOwl:hasExactSynonym "LAD3", "integrin activation deficiency disease", "leukocyte adhesion deficiency 1 variant", "leukocyte adhesion deficiency 3", "leukocyte adhesion deficiency, iia 3" ; + skos:exactMatch UMLS:C2748536 ; biolink:category biolink:Disease . OMIM:612841 a owl:Class ; @@ -443762,12 +460456,12 @@ OMIM:612841 a owl:Class ; PMID:16185270, PMID:23099647 ; RO:0002525 CHR:9606chr1p21.1-q21.3 ; - oboInOwl:hasDbXref UMLS:C2748535, - ORPHA:444 ; oboInOwl:hasExactSynonym "HYPT5", "hypotrichosis 5", "marie unna hereditary hypotrichosis 2" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C2748535, + ORPHA:444 ; biolink:category biolink:Disease . OMIM:612847 a owl:Class ; @@ -443776,22 +460470,22 @@ OMIM:612847 a owl:Class ; PMID:22791835, PMID:9714015, PMID:9771708 ; - oboInOwl:hasDbXref UMLS:C2748515 ; oboInOwl:hasExactSynonym "BCYM4", "brachyolmia iia 4 with mild epiphyseal and metaphyseal changes", "semd, pakistani iia", "spondylodysplasia and premature pubarche", "spondyloepimetaphyseal dysplasia, pakistani iia" ; + skos:exactMatch UMLS:C2748515 ; biolink:category biolink:Disease . OMIM:612851 a owl:Class ; rdfs:label "narcolepsy 5, susceptibility to" ; IAO:0000142 PMID:19412176 ; RO:0002525 CHR:9606chr14q11.2 ; - oboInOwl:hasDbXref UMLS:C2748508 ; oboInOwl:hasExactSynonym "NRCLP5", "narcolepsy 5, susceptibility to" ; rdfs:subClassOf OMIMPS:161400 ; + skos:exactMatch UMLS:C2748508 ; biolink:category biolink:Disease . OMIM:612853 a owl:Class ; @@ -443806,10 +460500,10 @@ OMIM:612853 a owl:Class ; PMID:24642863, PMID:24995868 ; RO:0002525 CHR:9606chr2p14-p13 ; - oboInOwl:hasDbXref UMLS:C2748506 ; oboInOwl:hasExactSynonym "RLS7", "restless legs syndrome, susceptibility to, 7" ; rdfs:subClassOf OMIMPS:102300 ; + skos:exactMatch UMLS:C2748506 ; biolink:category biolink:Disease . OMIM:612858 a owl:Class ; @@ -443819,20 +460513,20 @@ OMIM:612858 a owl:Class ; PMID:19839039, PMID:22863734 ; RO:0002525 CHR:9606chr8q24.3 ; - oboInOwl:hasDbXref UMLS:C2748505 ; oboInOwl:hasExactSynonym "OFC12", "cleft 51p with or without cleft palate, nonsyndromic, 12", "orofacial cleft 12" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C2748505 ; biolink:category biolink:Disease . OMIM:612862 a owl:Class ; rdfs:label "pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to" ; IAO:0000142 PMID:19165231 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C2748504 ; oboInOwl:hasExactSynonym "cteph, dvt-negative, susceptibility to", "pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to" ; + skos:exactMatch UMLS:C2748504 ; biolink:category biolink:Disease . OMIM:612874 a owl:Class ; @@ -443840,8 +460534,8 @@ OMIM:612874 a owl:Class ; IAO:0000142 PMID:2624209, PMID:3804327, PMID:8004104 ; - oboInOwl:hasDbXref UMLS:C2752073 ; oboInOwl:hasExactSynonym "erythrocyte amp deaminase deficiency" ; + skos:exactMatch UMLS:C2752073 ; biolink:category biolink:Disease . OMIM:612875 a owl:Class ; @@ -443852,27 +460546,28 @@ OMIM:612875 a owl:Class ; PMID:12538601, PMID:15380810, PMID:17296196 ; - oboInOwl:hasDbXref UMLS:C3888003 ; oboInOwl:hasExactSynonym "GNRHR2", "gonadotropin-releasing hormone receptor 2" ; - skos:exactMatch HGNC_symbol:GNRHR2 . + skos:exactMatch UMLS:C3888003, + HGNC:16341, + HGNC_symbol:GNRHR2 . OMIM:612876 a owl:Class ; rdfs:label "spinocerebellar ataxia 9" ; IAO:0000142 PMID:9159738 ; - oboInOwl:hasDbXref UMLS:C3887996 ; oboInOwl:hasExactSynonym "SCA9", "spinocerebellar ataxia 9" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C3887996 ; biolink:category biolink:Disease . OMIM:612877 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1bb" ; IAO:0000142 PMID:18678517 ; - oboInOwl:hasDbXref UMLS:C2752072 ; oboInOwl:hasExactSynonym "CMD1BB", "cardiomyopathy, dilated, 1bb" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C2752072 ; biolink:category biolink:Disease . OMIM:612882 a owl:Class ; @@ -443887,9 +460582,9 @@ OMIM:612882 a owl:Class ; PMID:21102462, PMID:25231870 ; RO:0002525 CHR:9606chr6q21 ; - oboInOwl:hasDbXref UMLS:C2752070 ; oboInOwl:hasExactSynonym "MENAQ2", "menarche, age at, quantitative trait locus 2" ; + skos:exactMatch UMLS:C2752070 ; biolink:category biolink:Disease . OMIM:612883 a owl:Class ; @@ -443898,9 +460593,9 @@ OMIM:612883 a owl:Class ; PMID:19448621, PMID:21102462 ; RO:0002525 CHR:9606chr9q31.2 ; - oboInOwl:hasDbXref UMLS:C2752069 ; oboInOwl:hasExactSynonym "MENAQ3", "menarche, age at, quantitative trait locus 3" ; + skos:exactMatch UMLS:C2752069 ; biolink:category biolink:Disease . OMIM:612884 a owl:Class ; @@ -443908,9 +460603,9 @@ OMIM:612884 a owl:Class ; IAO:0000142 PMID:19448619, PMID:19448621 ; RO:0002525 CHR:9606chr19q13.4 ; - oboInOwl:hasDbXref UMLS:C2752068 ; oboInOwl:hasExactSynonym "MENOQ2", "menopause, natural, age at, quantitative trait locus 2" ; + skos:exactMatch UMLS:C2752068 ; biolink:category biolink:Disease . OMIM:612885 a owl:Class ; @@ -443919,57 +460614,57 @@ OMIM:612885 a owl:Class ; PMID:19448621, PMID:25437880, PMID:25873734 ; - oboInOwl:hasDbXref UMLS:C2752067, - UMLS:C4225402 ; oboInOwl:hasExactSynonym "POF10", "menopause, natural, age at, quantitative trait locus 3", "premature ovarian failure 10" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C2752067, + UMLS:C4225402 ; biolink:category biolink:Disease . OMIM:612886 a owl:Class ; rdfs:label "menopause, natural, age at, quantitative trait locus 4" ; IAO:0000142 PMID:19448621 ; RO:0002525 CHR:9606chr5q35.2 ; - oboInOwl:hasDbXref UMLS:C2752066 ; oboInOwl:hasExactSynonym "MENOQ4", "menopause, natural, age at, quantitative trait locus 4" ; + skos:exactMatch UMLS:C2752066 ; biolink:category biolink:Disease . OMIM:612892 a owl:Class ; rdfs:label "stature quantitative trait locus 18" ; IAO:0000142 PMID:19343178 ; RO:0002525 CHR:9606chr6p22.1 ; - oboInOwl:hasDbXref UMLS:C2752065 ; oboInOwl:hasExactSynonym "STQTL18", "stature quantitative trait locus 18" ; + skos:exactMatch UMLS:C2752065 ; biolink:category biolink:Disease . OMIM:612893 a owl:Class ; rdfs:label "stature quantitative trait locus 19" ; IAO:0000142 PMID:19343178 ; RO:0002525 CHR:9606chr6p21.31 ; - oboInOwl:hasDbXref UMLS:C2752064 ; oboInOwl:hasExactSynonym "STQTL19", "stature quantitative trait locus 19" ; + skos:exactMatch UMLS:C2752064 ; biolink:category biolink:Disease . OMIM:612894 a owl:Class ; rdfs:label "stature quantitative trait locus 20" ; IAO:0000142 PMID:19343178 ; RO:0002525 CHR:9606chr13q14.3 ; - oboInOwl:hasDbXref UMLS:C2752063 ; oboInOwl:hasExactSynonym "STQTL20", "stature quantitative trait locus 20" ; + skos:exactMatch UMLS:C2752063 ; biolink:category biolink:Disease . OMIM:612899 a owl:Class ; rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 8" ; IAO:0000142 PMID:18756473 ; - oboInOwl:hasDbXref UMLS:C2752062 ; oboInOwl:hasExactSynonym "EIG8", "epilepsy, idiopathic generalized, susceptibility to, 8" ; rdfs:subClassOf OMIMPS:600669 ; + skos:exactMatch UMLS:C2752062 ; biolink:category biolink:Disease . OMIM:612921 a owl:Class ; @@ -443978,11 +460673,11 @@ OMIM:612921 a owl:Class ; PMID:19481195, PMID:23457316, PMID:27796265 ; - oboInOwl:hasDbXref UMLS:C2752041 ; oboInOwl:hasExactSynonym "3M2", "3m syndrome 2", "three m syndrome 2" ; rdfs:subClassOf OMIMPS:273750 ; + skos:exactMatch UMLS:C2752041 ; biolink:category biolink:Disease . OMIM:612922 a owl:Class ; @@ -443994,41 +460689,41 @@ OMIM:612922 a owl:Class ; PMID:16621965, PMID:3480783, PMID:9551389 ; - oboInOwl:hasDbXref UMLS:C2752040 ; oboInOwl:hasExactSynonym "AHUS2", "ahus, susceptibility to, 2", "hemolytic uremic syndrome, atypical, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:235400 ; + skos:exactMatch UMLS:C2752040 ; biolink:category biolink:Disease . OMIM:612926 a owl:Class ; rdfs:label "hemolytic uremic syndrome, atypical, susceptibility to, 6" ; IAO:0000142 PMID:19625716 ; - oboInOwl:hasDbXref UMLS:C2752036 ; oboInOwl:hasExactSynonym "AHUS6", "ahus, susceptibility to, 6", "hemolytic uremic syndrome, atypical, susceptibility to, 6" ; rdfs:subClassOf OMIMPS:235400 ; + skos:exactMatch UMLS:C2752036 ; biolink:category biolink:Disease . OMIM:612929 a owl:Class ; rdfs:label "mycobacterium tuberculosis, susceptibility to, 3" ; IAO:0000142 PMID:18420963 ; RO:0002525 CHR:9606chr20q13.31-q13.33 ; - oboInOwl:hasDbXref UMLS:C2752035 ; oboInOwl:hasExactSynonym "mtbs3", "mycobacterium tuberculosis, susceptibility to, 3" ; + skos:exactMatch UMLS:C2752035 ; biolink:category biolink:Disease . OMIM:612932 a owl:Class ; rdfs:label "glycogen storage disease 13" ; IAO:0000142 PMID:11506403 ; - oboInOwl:hasDbXref UMLS:C2752027 ; oboInOwl:hasExactSynonym "GSD13", "enolase 3 deficiency", "enolase-beta deficiency", "glycogen storage disease 13", "gsd 13" ; + skos:exactMatch UMLS:C2752027 ; biolink:category biolink:Disease . OMIM:612933 a owl:Class ; @@ -444042,11 +460737,11 @@ OMIM:612933 a owl:Class ; PMID:6517049, PMID:7449146, PMID:8327147 ; - oboInOwl:hasDbXref UMLS:C2931743 ; oboInOwl:hasExactSynonym "GSD11", "glycogen storage disease 11", "gsd 11", "lactate dehydrogenase a deficiency" ; + skos:exactMatch UMLS:C2931743 ; biolink:category biolink:Disease . OMIM:612936 a owl:Class ; @@ -444054,11 +460749,11 @@ OMIM:612936 a owl:Class ; IAO:0000142 PMID:19559397, PMID:21937992, PMID:24700674 ; - oboInOwl:hasDbXref UMLS:C2752008 ; oboInOwl:hasExactSynonym "SPG50", "cerebral palsy, spastic quadriplegic, 3, formerly", "spastic paraplegia 50, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2752008 ; biolink:category biolink:Disease . OMIM:612937 a owl:Class ; @@ -444066,8 +460761,6 @@ OMIM:612937 a owl:Class ; IAO:0000142 PMID:19576565, PMID:28803818, PMID:31266720 ; - oboInOwl:hasDbXref UMLS:C2752007, - ORPHA:263494 ; oboInOwl:hasExactSynonym "MDDGC15", "cdg io", "cdg1(dpm3)", @@ -444075,6 +460768,8 @@ OMIM:612937 a owl:Class ; "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15", "muscular dystrophy-dystroglycanopathy, limb-girdle, dpm3-related" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C2752007, + ORPHA:263494 ; biolink:category biolink:Disease . OMIM:612943 a owl:Class ; @@ -444083,10 +460778,10 @@ OMIM:612943 a owl:Class ; PMID:19520207, PMID:22084217, PMID:3976802 ; - oboInOwl:hasDbXref UMLS:C2751986 ; oboInOwl:hasExactSynonym "RP42", "retinitis pigmentosa 42" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C2751986 ; biolink:category biolink:Disease . OMIM:612949 a owl:Class ; @@ -444095,8 +460790,6 @@ OMIM:612949 a owl:Class ; PMID:19641205, PMID:19907050, PMID:24515575 ; - oboInOwl:hasDbXref UMLS:C2751855, - ORPHA:353217 ; oboInOwl:hasExactSynonym "DEE39", "agc1 deficiency", "aspartate-glutamate carrier 1 deficiency", @@ -444104,6 +460797,8 @@ OMIM:612949 a owl:Class ; "epileptic encephalopathy, early infantile, 39", "hypomyelination, global cerebral" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C2751855, + ORPHA:353217 ; biolink:category biolink:Disease . OMIM:612951 a owl:Class ; @@ -444112,8 +460807,8 @@ OMIM:612951 a owl:Class ; PMID:15851732, PMID:19525954, PMID:9810556 ; - oboInOwl:hasDbXref UMLS:C2751843 ; oboInOwl:hasExactSynonym "leukoencephalopathy, cystic, without megalencephaly" ; + skos:exactMatch UMLS:C2751843 ; biolink:category biolink:Disease . OMIM:612952 a owl:Class ; @@ -444121,10 +460816,10 @@ OMIM:612952 a owl:Class ; IAO:0000142 PMID:19525956, PMID:20358604, PMID:21102625 ; - oboInOwl:hasDbXref UMLS:C2749659 ; oboInOwl:hasExactSynonym "AGS5", "aicardi-goutieres syndrome 5" ; rdfs:subClassOf OMIMPS:225750 ; + skos:exactMatch UMLS:C2749659 ; biolink:category biolink:Disease . OMIM:612953 a owl:Class ; @@ -444133,11 +460828,11 @@ OMIM:612953 a owl:Class ; PMID:18981035, PMID:20938027, PMID:21700586 ; - oboInOwl:hasDbXref UMLS:C2751842 ; oboInOwl:hasExactSynonym "PARK14", "dystonia-parkinsonism, adult-onset", "parkinson disease 14, autosomal recessive" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C2751842 ; biolink:category biolink:Disease . OMIM:612954 a owl:Class ; @@ -444149,11 +460844,11 @@ OMIM:612954 a owl:Class ; PMID:21361913, PMID:22734908, PMID:25208129 ; - oboInOwl:hasDbXref UMLS:C2751831, - ORPHA:199340 ; oboInOwl:hasExactSynonym "MFM6", "myopathy, myofibrillar, 6" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C2751831, + ORPHA:199340 ; biolink:category biolink:Disease . OMIM:612955 a owl:Class ; @@ -444161,29 +460856,29 @@ OMIM:612955 a owl:Class ; IAO:0000142 PMID:10220144, PMID:18591664, PMID:19684871 ; - oboInOwl:hasDbXref UMLS:C2751830 ; oboInOwl:hasExactSynonym "LQT12", "long qt syndrome 12" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C2751830 ; biolink:category biolink:Disease . OMIM:612956 a owl:Class ; rdfs:label "ventricular fibrillation, paroxysmal familial, 2" ; IAO:0000142 PMID:15890703, PMID:19285295 ; - oboInOwl:hasDbXref UMLS:C2751829, - ORPHA:228140 ; oboInOwl:hasExactSynonym "VF2", "ventricular fibrillation, paroxysmal familial, 2" ; + skos:exactMatch UMLS:C2751829, + ORPHA:228140 ; biolink:category biolink:Disease . OMIM:612957 a owl:Class ; rdfs:label "vitamin b6 plasma level quantitative trait locus 1" ; IAO:0000142 PMID:19303062 ; RO:0002525 CHR:9606chr1p36.12 ; - oboInOwl:hasDbXref UMLS:C2751828 ; oboInOwl:hasExactSynonym "B6QTL1", "vitamin b6 plasma level quantitative trait locus 1" ; + skos:exactMatch UMLS:C2751828 ; biolink:category biolink:Disease . OMIM:612961 a owl:Class ; @@ -444191,11 +460886,11 @@ OMIM:612961 a owl:Class ; IAO:0000142 PMID:19589401, PMID:28169396, PMID:28730625 ; - oboInOwl:hasDbXref UMLS:C2751826, - ORPHA:3237 ; oboInOwl:hasExactSynonym "SYNS3", "multiple synostoses syndrome 3" ; rdfs:subClassOf OMIMPS:186500 ; + skos:exactMatch UMLS:C2751826, + ORPHA:3237 ; biolink:category biolink:Disease . OMIM:612967 a owl:Class ; @@ -444203,30 +460898,31 @@ OMIM:612967 a owl:Class ; IAO:0000142 PMID:17024367, PMID:19576566 ; RO:0002525 CHR:9606chr17q23.2-q25.1 ; - oboInOwl:hasDbXref UMLS:C2751823 ; oboInOwl:hasExactSynonym "BMIQ15", "body mass index quantitative trait locus 15" ; + skos:exactMatch UMLS:C2751823 ; biolink:category biolink:Disease . OMIM:612970 a owl:Class ; rdfs:label "neuroblastoma breakpoint family, member 17, pseudogene" ; IAO:0000142 PMID:19536264 ; - oboInOwl:hasDbXref UMLS:C2751821 ; oboInOwl:hasExactSynonym "NBPF17P", "neuroblastoma breakpoint family, member 17, pseudogene", "neuroblastoma breakpoint family, member 23, pseudogene" ; - skos:exactMatch HGNC_symbol:NBPF17P . + skos:exactMatch UMLS:C2751821, + HGNC:31997, + HGNC_symbol:NBPF17P . OMIM:612975 a owl:Class ; rdfs:label "short sleep, familial natural, 1" ; IAO:0000142 PMID:19679812, PMID:2406285, PMID:25083013 ; - oboInOwl:hasDbXref UMLS:C5200932 ; oboInOwl:hasExactSynonym "FNSS1", "short sleep phenotype", "short sleep, familial natural, 1" ; rdfs:subClassOf OMIMPS:612975 ; + skos:exactMatch UMLS:C5200932 ; biolink:category biolink:Disease . OMIM:612976 a owl:Class ; @@ -444235,10 +460931,10 @@ OMIM:612976 a owl:Class ; PMID:19047183, PMID:20068591 ; RO:0002525 CHR:9606chr3p26.1-p25.1 ; - oboInOwl:hasDbXref UMLS:C2751814 ; oboInOwl:hasExactSynonym "ARHI2", "age-related hearing impairment 2", "presbycusis 2" ; + skos:exactMatch UMLS:C2751814 ; biolink:category biolink:Disease . OMIM:612989 a owl:Class ; @@ -444246,33 +460942,33 @@ OMIM:612989 a owl:Class ; IAO:0000142 PMID:19327736, PMID:20405026, PMID:22815638 ; - oboInOwl:hasDbXref UMLS:C2751812 ; oboInOwl:hasExactSynonym "OPA7", "optic atrophy 7 with or without auditory neuropathy" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C2751812 ; biolink:category biolink:Disease . OMIM:612997 a owl:Class ; rdfs:label "spermatogenic failure 7" ; IAO:0000142 PMID:11595941, PMID:19344877 ; - oboInOwl:hasDbXref UMLS:C2751811, - ORPHA:276234 ; oboInOwl:hasExactSynonym "SPGF7", "male infertility, nonsyndromic, autosomal recessive", "spermatogenic failure 7" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C2751811, + ORPHA:276234 ; biolink:category biolink:Disease . OMIM:612999 a owl:Class ; rdfs:label "emery-dreifuss muscular dystrophy 5, autosomal dominant" ; IAO:0000142 PMID:17761684 ; - oboInOwl:hasDbXref UMLS:C2751805, - ORPHA:261, - ORPHA:98853 ; oboInOwl:hasExactSynonym "EDMD5", "emery-dreifuss muscular dystrophy 5, autosomal dominant" ; rdfs:subClassOf OMIMPS:310300 ; + skos:exactMatch UMLS:C2751805, + ORPHA:261, + ORPHA:98853 ; biolink:category biolink:Disease . OMIM:613000 a owl:Class ; @@ -444280,14 +460976,14 @@ OMIM:613000 a owl:Class ; IAO:0000142 PMID:10839714, PMID:7544664, PMID:8595410 ; - oboInOwl:hasDbXref UMLS:C2931923, - UMLS:C4552049, - ORPHA:448264 ; oboInOwl:hasExactSynonym "FNEPPK1", "focal nonepidermolytic palmoplantar keratoderma", "keratoderma, focal nonepidermolytic palmoplantar", "palmoplantar keratoderma, nonepidermolytic, focal 1", "ppkfne" ; + skos:exactMatch UMLS:C2931923, + UMLS:C4552049, + ORPHA:448264 ; biolink:category biolink:Disease . OMIM:613002 a owl:Class ; @@ -444298,7 +460994,6 @@ OMIM:613002 a owl:Class ; PMID:23290562, PMID:25339207, PMID:26513235 ; - oboInOwl:hasDbXref UMLS:C2751803 ; oboInOwl:hasExactSynonym "IMD83", "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2", "herpes simplex encephalitis, susceptibility to, 2", @@ -444306,6 +461001,7 @@ OMIM:613002 a owl:Class ; "pneumonitis, infection (viral)-induced, susceptibility to" ; rdfs:subClassOf OMIMPS:300755, OMIMPS:610551 ; + skos:exactMatch UMLS:C2751803 ; biolink:category biolink:Disease . OMIM:613006 a owl:Class ; @@ -444314,10 +461010,10 @@ OMIM:613006 a owl:Class ; PMID:18978792, PMID:19430480 ; RO:0002525 CHR:9606chr10q23.31 ; - oboInOwl:hasDbXref UMLS:C2751697 ; oboInOwl:hasExactSynonym " iia 1 diabetes mellitus 24", "T1D24", "diabetes mellitus, insulin-dependent, 24" ; + skos:exactMatch UMLS:C2751697 ; biolink:category biolink:Disease . OMIM:613007 a owl:Class ; @@ -444325,10 +461021,10 @@ OMIM:613007 a owl:Class ; IAO:0000142 PMID:19458352, PMID:8900092 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C2751696 ; oboInOwl:hasExactSynonym "PBC2", "biliary cirrhosis, primary, 2" ; rdfs:subClassOf OMIMPS:109720 ; + skos:exactMatch UMLS:C2751696 ; biolink:category biolink:Disease . OMIM:613008 a owl:Class ; @@ -444336,10 +461032,10 @@ OMIM:613008 a owl:Class ; IAO:0000142 PMID:19458352, PMID:8900092 ; RO:0002525 CHR:9606chr1p31.2 ; - oboInOwl:hasDbXref UMLS:C2751695 ; oboInOwl:hasExactSynonym "PBC3", "biliary cirrhosis, primary, 3" ; rdfs:subClassOf OMIMPS:109720 ; + skos:exactMatch UMLS:C2751695 ; biolink:category biolink:Disease . OMIM:613011 a owl:Class ; @@ -444347,10 +461043,10 @@ OMIM:613011 a owl:Class ; IAO:0000142 PMID:19425169, PMID:21109689, PMID:22289921 ; - oboInOwl:hasDbXref UMLS:C3552634 ; oboInOwl:hasExactSynonym "LPFS1", "lymphoproliferative syndrome 1" ; rdfs:subClassOf OMIMPS:308240 ; + skos:exactMatch UMLS:C3552634 ; biolink:category biolink:Disease . OMIM:613013 a owl:Class ; @@ -444359,11 +461055,11 @@ OMIM:613013 a owl:Class ; PMID:12640453, PMID:15024693, PMID:16691592 ; - oboInOwl:hasDbXref UMLS:C2751682, - UMLS:C2751683 ; oboInOwl:hasExactSynonym "NBLST2", "neuroblastoma with hirschsprung disease", "neuroblastoma, susceptibility to, 2" ; + skos:exactMatch UMLS:C2751682, + UMLS:C2751683 ; biolink:category biolink:Disease . OMIM:613014 a owl:Class ; @@ -444374,9 +461070,9 @@ OMIM:613014 a owl:Class ; PMID:18923524, PMID:18923525, PMID:22071890 ; - oboInOwl:hasDbXref UMLS:C2751681 ; oboInOwl:hasExactSynonym "NBLST3", "neuroblastoma, susceptibility to, 3" ; + skos:exactMatch UMLS:C2751681 ; biolink:category biolink:Disease . OMIM:613015 a owl:Class ; @@ -444385,9 +461081,9 @@ OMIM:613015 a owl:Class ; PMID:19412175, PMID:25517750 ; RO:0002525 CHR:9606chr6p22 ; - oboInOwl:hasDbXref UMLS:C2751680 ; oboInOwl:hasExactSynonym "NBLST4", "neuroblastoma, susceptibility to, 4" ; + skos:exactMatch UMLS:C2751680 ; biolink:category biolink:Disease . OMIM:613016 a owl:Class ; @@ -444395,18 +461091,18 @@ OMIM:613016 a owl:Class ; IAO:0000142 PMID:18463370, PMID:19412175 ; RO:0002525 CHR:9606chr2q35 ; - oboInOwl:hasDbXref UMLS:C2751679 ; oboInOwl:hasExactSynonym "NBLST5", "neuroblastoma, susceptibility to, 5" ; + skos:exactMatch UMLS:C2751679 ; biolink:category biolink:Disease . OMIM:613017 a owl:Class ; rdfs:label "neuroblastoma, susceptibility to, 6" ; IAO:0000142 PMID:19536264 ; RO:0002525 CHR:9606chr1q21.1 ; - oboInOwl:hasDbXref UMLS:C2751678 ; oboInOwl:hasExactSynonym "NBLST6", "neuroblastoma, susceptibility to, 6" ; + skos:exactMatch UMLS:C2751678 ; biolink:category biolink:Disease . OMIM:613024 a owl:Class ; @@ -444428,9 +461124,9 @@ OMIM:613024 a owl:Class ; PMID:7133054, PMID:8090743 ; RO:0002525 CHR:9606chr6p21.33 ; - oboInOwl:hasDbXref UMLS:C2751665 ; oboInOwl:hasExactSynonym "FL1", "follicular lymphoma, susceptibility to, 1" ; + skos:exactMatch UMLS:C2751665 ; biolink:category biolink:Disease . OMIM:613025 a owl:Class ; @@ -444442,10 +461138,10 @@ OMIM:613025 a owl:Class ; PMID:19166990, PMID:9012828 ; RO:0002525 CHR:9606chr15q13 ; - oboInOwl:hasDbXref UMLS:C2751663 ; oboInOwl:hasExactSynonym "SCZD13", "schizophrenia 13", "schizophrenia susceptibility locus, chromosome 15q13-q14-related" ; + skos:exactMatch UMLS:C2751663 ; biolink:category biolink:Disease . OMIM:613027 a owl:Class ; @@ -444462,10 +461158,10 @@ OMIM:613027 a owl:Class ; PMID:6962066, PMID:8896567, PMID:9384616 ; - oboInOwl:hasDbXref UMLS:C2751643 ; oboInOwl:hasExactSynonym "GSD9C", "glycogen storage disease ixc", "gsd ixc" ; + skos:exactMatch UMLS:C2751643 ; biolink:category biolink:Disease . OMIM:613030 a owl:Class ; @@ -444478,10 +461174,10 @@ OMIM:613030 a owl:Class ; PMID:19578367, PMID:3335011 ; RO:0002525 CHR:9606chr9p21.3 ; - oboInOwl:hasDbXref UMLS:C2751640 ; oboInOwl:hasExactSynonym "GLM5", "glioma susceptibility 5" ; rdfs:subClassOf OMIMPS:137800 ; + skos:exactMatch UMLS:C2751640 ; biolink:category biolink:Disease . OMIM:613031 a owl:Class ; @@ -444489,10 +461185,10 @@ OMIM:613031 a owl:Class ; IAO:0000142 PMID:19578366, PMID:19578367 ; RO:0002525 CHR:9606chr20q13.33 ; - oboInOwl:hasDbXref UMLS:C2751639 ; oboInOwl:hasExactSynonym "GLM6", "glioma susceptibility 6" ; rdfs:subClassOf OMIMPS:137800 ; + skos:exactMatch UMLS:C2751639 ; biolink:category biolink:Disease . OMIM:613032 a owl:Class ; @@ -444500,20 +461196,20 @@ OMIM:613032 a owl:Class ; IAO:0000142 PMID:19578367, PMID:22922872 ; RO:0002525 CHR:9606chr8q24.21 ; - oboInOwl:hasDbXref UMLS:C2751638 ; oboInOwl:hasExactSynonym "GLM7", "glioma susceptibility 7" ; rdfs:subClassOf OMIMPS:137800 ; + skos:exactMatch UMLS:C2751638 ; biolink:category biolink:Disease . OMIM:613033 a owl:Class ; rdfs:label "glioma susceptibility 8" ; IAO:0000142 PMID:19578367 ; RO:0002525 CHR:9606chr5p15.33 ; - oboInOwl:hasDbXref UMLS:C2751637 ; oboInOwl:hasExactSynonym "GLM8", "glioma susceptibility 8" ; rdfs:subClassOf OMIMPS:137800 ; + skos:exactMatch UMLS:C2751637 ; biolink:category biolink:Disease . OMIM:613038 a owl:Class ; @@ -444541,10 +461237,10 @@ OMIM:613038 a owl:Class ; PMID:9392392, PMID:9462743, PMID:9626142 ; - oboInOwl:hasDbXref UMLS:C2751608 ; oboInOwl:hasExactSynonym "CPHD1", "pituitary hormone deficiency, combined or isolated, 1" ; rdfs:subClassOf OMIMPS:613038 ; + skos:exactMatch UMLS:C2751608 ; biolink:category biolink:Disease . OMIM:613055 a owl:Class ; @@ -444554,19 +461250,19 @@ OMIM:613055 a owl:Class ; PMID:9070470 ; RO:0002525 CHR:9606chr16q22 ; RO:0003303 OMIM:8 ; - oboInOwl:hasDbXref UMLS:C2751607 ; oboInOwl:hasExactSynonym "ATFB8", "atrial fibrillation, familial, 8" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C2751607 ; biolink:category biolink:Disease . OMIM:613058 a owl:Class ; rdfs:label "basal cell carcinoma, susceptibility to, 2" ; IAO:0000142 PMID:18849993 ; RO:0002525 CHR:9606chr1q42 ; - oboInOwl:hasDbXref UMLS:C2751606 ; oboInOwl:hasExactSynonym "BCC2", "basal cell carcinoma, susceptibility to, 2" ; + skos:exactMatch UMLS:C2751606 ; biolink:category biolink:Disease . OMIM:613059 a owl:Class ; @@ -444575,9 +461271,9 @@ OMIM:613059 a owl:Class ; PMID:19151717, PMID:19578363 ; RO:0002525 CHR:9606chr5p15.33 ; - oboInOwl:hasDbXref UMLS:C2751605 ; oboInOwl:hasExactSynonym "BCC3", "basal cell carcinoma, susceptibility to, 3" ; + skos:exactMatch UMLS:C2751605 ; biolink:category biolink:Disease . OMIM:613060 a owl:Class ; @@ -444586,9 +461282,6 @@ OMIM:613060 a owl:Class ; PMID:16023832, PMID:2502382, PMID:9894880 ; - oboInOwl:hasDbXref UMLS:C2751603, - UMLS:C2751604, - UMLS:C3150399 ; oboInOwl:hasExactSynonym "EIG10", "epilepsy, idiopathic generalized, susceptibility to, 10", "epilepsy, juvenile myoclonic, susceptibility to, 7", @@ -444599,24 +461292,27 @@ OMIM:613060 a owl:Class ; rdfs:subClassOf OMIMPS:254770, OMIMPS:600669, OMIMPS:604233 ; + skos:exactMatch UMLS:C2751603, + UMLS:C2751604, + UMLS:C3150399 ; biolink:category biolink:Disease . OMIM:613061 a owl:Class ; rdfs:label "basal cell carcinoma, susceptibility to, 4" ; IAO:0000142 PMID:19578363 ; RO:0002525 CHR:9606chr12q13 ; - oboInOwl:hasDbXref UMLS:C2751602 ; oboInOwl:hasExactSynonym "BCC4", "basal cell carcinoma, susceptibility to, 4" ; + skos:exactMatch UMLS:C2751602 ; biolink:category biolink:Disease . OMIM:613062 a owl:Class ; rdfs:label "basal cell carcinoma, susceptibility to, 5" ; IAO:0000142 PMID:19578363 ; RO:0002525 CHR:9606chr9p21 ; - oboInOwl:hasDbXref UMLS:C2751601 ; oboInOwl:hasExactSynonym "BCC5", "basal cell carcinoma, susceptibility to, 5" ; + skos:exactMatch UMLS:C2751601 ; biolink:category biolink:Disease . OMIM:613063 a owl:Class ; @@ -444624,19 +461320,19 @@ OMIM:613063 a owl:Class ; IAO:0000142 PMID:19578363, PMID:20016592 ; RO:0002525 CHR:9606chr7q32 ; - oboInOwl:hasDbXref UMLS:C2751600 ; oboInOwl:hasExactSynonym "BCC6", "basal cell carcinoma, susceptibility to, 6" ; + skos:exactMatch UMLS:C2751600 ; biolink:category biolink:Disease . OMIM:613064 a owl:Class ; rdfs:label "dermatitis, atopic, 7" ; IAO:0000142 PMID:19349984 ; RO:0002525 CHR:9606chr11q13.5 ; - oboInOwl:hasDbXref UMLS:C2751599 ; oboInOwl:hasExactSynonym "ATOD7", "dermatitis, atopic, 7" ; rdfs:subClassOf OMIMPS:603165 ; + skos:exactMatch UMLS:C2751599 ; biolink:category biolink:Disease . OMIM:613067 a owl:Class ; @@ -444647,19 +461343,19 @@ OMIM:613067 a owl:Class ; PMID:19684604, PMID:20042726 ; RO:0002525 CHR:9606chr7p12.2 ; - oboInOwl:hasDbXref UMLS:C2751593 ; oboInOwl:hasExactSynonym "ALL2", "leukemia, acute lymphoblastic, susceptibility to, 2", "leukemia, acute lymphocytic, susceptibility to, 2" ; + skos:exactMatch UMLS:C2751593 ; biolink:category biolink:Disease . OMIM:613068 a owl:Class ; rdfs:label "neurodegeneration due to cerebral folate transport deficiency" ; IAO:0000142 PMID:19732866 ; - oboInOwl:hasDbXref UMLS:C2751584, - ORPHA:217382 ; oboInOwl:hasExactSynonym "NCFTD", "neurodegeneration due to cerebral folate transport deficiency" ; + skos:exactMatch UMLS:C2751584, + ORPHA:217382 ; biolink:category biolink:Disease . OMIM:613073 a owl:Class ; @@ -444668,19 +461364,19 @@ OMIM:613073 a owl:Class ; PMID:19615667, PMID:24648384, PMID:4252978 ; - oboInOwl:hasDbXref UMLS:C2751322 ; oboInOwl:hasExactSynonym "MANDP2", "metaphyseal anadysplasia 2" ; + skos:exactMatch UMLS:C2751322 ; biolink:category biolink:Disease . OMIM:613074 a owl:Class ; rdfs:label "deafness, autosomal dominant 50" ; IAO:0000142 PMID:14757864, PMID:19363479 ; - oboInOwl:hasDbXref UMLS:C3888123 ; oboInOwl:hasExactSynonym "DFNA50", "deafness, autosomal dominant 50" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C3888123 ; biolink:category biolink:Disease . OMIM:613075 a owl:Class ; @@ -444690,11 +461386,11 @@ OMIM:613075 a owl:Class ; PMID:20954239, PMID:24449201, PMID:30769224 ; - oboInOwl:hasDbXref UMLS:C2751321, - ORPHA:217335 ; oboInOwl:hasExactSynonym "macrocephaly, alopecia, cutis laxa, and scoliosis", "macs syndrome", "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" ; + skos:exactMatch UMLS:C2751321, + ORPHA:217335 ; biolink:category biolink:Disease . OMIM:613076 a owl:Class ; @@ -444704,34 +461400,34 @@ OMIM:613076 a owl:Class ; PMID:26757139, PMID:28155230, PMID:8627443 ; - oboInOwl:hasDbXref UMLS:C2751320, - ORPHA:330054 ; oboInOwl:hasExactSynonym "MPMCD", "mitochondrial complex deficiency, combined", "myopathy with cataract and combined respiratory chain deficiency", "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" ; + skos:exactMatch UMLS:C2751320, + ORPHA:330054 ; biolink:category biolink:Disease . OMIM:613078 a owl:Class ; rdfs:label "nijmegen breakage syndrome-like disorder" ; IAO:0000142 PMID:1887849, PMID:19409520 ; - oboInOwl:hasDbXref UMLS:C2751318 ; oboInOwl:hasExactSynonym "NBSLD", "microcephaly and spontaneous chromosome instability without immunodeficiency", "nbs-like disorder", "nijmegen breakage syndrome-like disorder", "rad50 deficiency" ; + skos:exactMatch UMLS:C2751318 ; biolink:category biolink:Disease . OMIM:613079 a owl:Class ; rdfs:label "deafness, autosomal recessive 77" ; IAO:0000142 PMID:19732867, PMID:21465660 ; - oboInOwl:hasDbXref UMLS:C2746083 ; oboInOwl:hasExactSynonym "DFNB77", "deafness, autosomal recessive 77" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C2746083 ; biolink:category biolink:Disease . OMIM:613080 a owl:Class ; @@ -444739,7 +461435,6 @@ OMIM:613080 a owl:Class ; IAO:0000142 PMID:19361780, PMID:23219007, PMID:9641679 ; - oboInOwl:hasDbXref UMLS:C2751317 ; oboInOwl:hasExactSynonym "46,xy gonadal dysgenesis, complete, cbx2-related", "46,xy sex reversal 5", "46,xy sex reversal, cbx2-related", @@ -444747,32 +461442,33 @@ OMIM:613080 a owl:Class ; "disorder of sex development, 46,xy, cbx2-related", "sex reversal, xy, cbx2-related" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C2751317 ; biolink:category biolink:Disease . OMIM:613085 a owl:Class ; rdfs:label "glaucoma 3, primary congenital, c" ; RO:0002525 CHR:9606chr14q24.3 ; - oboInOwl:hasDbXref UMLS:C3888011 ; oboInOwl:hasExactSynonym "GLC3C", "glaucoma 3, primary congenital, c" ; + skos:exactMatch UMLS:C3888011 ; biolink:category biolink:Disease . OMIM:613087 a owl:Class ; rdfs:label "atrial septal defect 6" ; IAO:0000142 PMID:18830233 ; - oboInOwl:hasDbXref UMLS:C2751315 ; oboInOwl:hasExactSynonym "ASD6", "atrial septal defect 6" ; rdfs:subClassOf OMIMPS:108800 ; + skos:exactMatch UMLS:C2751315 ; biolink:category biolink:Disease . OMIM:613088 a owl:Class ; rdfs:label "pelvic organ prolapse, susceptibility to, 2" ; IAO:0000142 PMID:19393595 ; RO:0002525 CHR:9606chr9q21 ; - oboInOwl:hasDbXref UMLS:C2751314 ; oboInOwl:hasExactSynonym "pelvic organ prolapse, susceptibility to, 2", "pvop2" ; + skos:exactMatch UMLS:C2751314 ; biolink:category biolink:Disease . OMIM:613093 a owl:Class ; @@ -444780,12 +461476,12 @@ OMIM:613093 a owl:Class ; IAO:0000142 PMID:19615668, PMID:19887631, PMID:30080950 ; - oboInOwl:hasDbXref UMLS:C2751308, - UMLS:C2751309 ; oboInOwl:hasExactSynonym "COD4", "achromatopsia 5", "cone dystrophy 4" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C2751308, + UMLS:C2751309 ; biolink:category biolink:Disease . OMIM:613095 a owl:Class ; @@ -444822,30 +461518,30 @@ OMIM:613095 a owl:Class ; PMID:9402976, PMID:9773786, PMID:9949210 ; - oboInOwl:hasDbXref UMLS:C2751306 ; oboInOwl:hasExactSynonym "PKD2", "polycystic kidney disease 2 with or without polycystic liver disease", "polycystic kidney disease, adult, iia 2" ; rdfs:subClassOf OMIMPS:173900 ; + skos:exactMatch UMLS:C2751306 ; biolink:category biolink:Disease . OMIM:613096 a owl:Class ; rdfs:label "spastic paraplegia 36, autosomal dominant" ; IAO:0000142 PMID:19357379 ; RO:0002525 CHR:9606chr12q23-q24 ; - oboInOwl:hasDbXref UMLS:C2936879 ; oboInOwl:hasExactSynonym "SPG36", "spastic paraplegia 36, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2936879 ; biolink:category biolink:Disease . OMIM:613100 a owl:Class ; rdfs:label "glaucoma 1, open angle, o" ; IAO:0000142 PMID:19765683, PMID:20215012 ; - oboInOwl:hasDbXref UMLS:C2751294 ; oboInOwl:hasExactSynonym "GLC1O", "glaucoma 1, open angle, o" ; + skos:exactMatch UMLS:C2751294 ; biolink:category biolink:Disease . OMIM:613101 a owl:Class ; @@ -444861,20 +461557,20 @@ OMIM:613101 a owl:Class ; PMID:23382066, PMID:29266534, PMID:32374962 ; - oboInOwl:hasDbXref UMLS:C2751293, - ORPHA:540 ; oboInOwl:hasExactSynonym "FHL5", "hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease" ; rdfs:subClassOf OMIMPS:267700 ; + skos:exactMatch UMLS:C2751293, + ORPHA:540 ; biolink:category biolink:Disease . OMIM:613102 a owl:Class ; rdfs:label "hypotrichosis and recurrent skin vesicles" ; IAO:0000142 PMID:19765682, PMID:20159115 ; - oboInOwl:hasDbXref UMLS:C2751292 ; oboInOwl:hasExactSynonym "HYPTSV", "hypotrichosis and recurrent skin vesicles" ; + skos:exactMatch UMLS:C2751292 ; biolink:category biolink:Disease . OMIM:613106 a owl:Class ; @@ -444882,9 +461578,9 @@ OMIM:613106 a owl:Class ; IAO:0000142 PMID:16330481 ; RO:0002525 CHR:9606chr22q12 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C2751289 ; oboInOwl:hasExactSynonym "BRV2", "vertigo, benign recurrent, 2" ; + skos:exactMatch UMLS:C2751289 ; biolink:category biolink:Disease . OMIM:613107 a owl:Class ; @@ -444893,11 +461589,11 @@ OMIM:613107 a owl:Class ; PMID:12778173, PMID:20560965, PMID:7789186 ; - oboInOwl:hasDbXref UMLS:C2751288, - ORPHA:486 ; oboInOwl:hasExactSynonym "SCN2", "neutropenia, severe congenital, 2, autosomal dominant" ; rdfs:subClassOf OMIMPS:202700 ; + skos:exactMatch UMLS:C2751288, + ORPHA:486 ; biolink:category biolink:Disease . OMIM:613112 a owl:Class ; @@ -444905,18 +461601,18 @@ OMIM:613112 a owl:Class ; IAO:0000142 PMID:15956286, PMID:18466252, PMID:18849486 ; - oboInOwl:hasDbXref UMLS:C2751259 ; oboInOwl:hasExactSynonym "macrothrombocytopenia, autosomal dominant, tubb1-related" ; + skos:exactMatch UMLS:C2751259 ; biolink:category biolink:Disease . OMIM:613115 a owl:Class ; rdfs:label "neuropathy, hereditary sensory and autonomic, iia 2b" ; IAO:0000142 PMID:19838196, PMID:24327336 ; - oboInOwl:hasDbXref UMLS:C2751092 ; oboInOwl:hasExactSynonym "HSAN2B", "neuropathy, hereditary sensory and autonomic, iia 2b" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C2751092 ; biolink:category biolink:Disease . OMIM:613116 a owl:Class ; @@ -444933,12 +461629,12 @@ OMIM:613116 a owl:Class ; PMID:8478593, PMID:8815595, PMID:9414276 ; - oboInOwl:hasDbXref UMLS:C2751090, - UMLS:C2751091 ; oboInOwl:hasExactSynonym "THPH11", "thrombophilia due to elevated histidine-rich glycoprotein", "thrombophilia due to histidine-rich glycoprotein deficiency" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C2751090, + UMLS:C2751091 ; biolink:category biolink:Disease . OMIM:613118 a owl:Class ; @@ -444969,21 +461665,21 @@ OMIM:613118 a owl:Class ; PMID:752494, PMID:8091378, PMID:8664906 ; - oboInOwl:hasDbXref UMLS:C0272375 ; oboInOwl:hasExactSynonym "AT3D", "antithrombin 3 deficiency", "thrombophilia due to antithrombin 3 deficiency" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C0272375 ; biolink:category biolink:Disease . OMIM:613119 a owl:Class ; rdfs:label "brugada syndrome 6" ; IAO:0000142 PMID:15655131, PMID:19122847 ; - oboInOwl:hasDbXref UMLS:C2751089 ; oboInOwl:hasExactSynonym "BRGDA6", "brugada syndrome 6" ; rdfs:subClassOf OMIMPS:601144 ; + skos:exactMatch UMLS:C2751089 ; biolink:category biolink:Disease . OMIM:613120 a owl:Class ; @@ -444992,23 +461688,23 @@ OMIM:613120 a owl:Class ; PMID:20031595, PMID:20558140, PMID:21051419 ; - oboInOwl:hasDbXref UMLS:C2751088, - UMLS:C4013699 ; oboInOwl:hasExactSynonym "BRGDA7", "atrial fibrillation, familial, 16", "brugada syndrome 7" ; rdfs:subClassOf OMIMPS:601144, OMIMPS:608583 ; + skos:exactMatch UMLS:C2751088, + UMLS:C4013699 ; biolink:category biolink:Disease . OMIM:613144 a owl:Class ; rdfs:label "choroidal dystrophy, central areolar, 3" ; IAO:0000142 PMID:19696794 ; - oboInOwl:hasDbXref UMLS:C2751055 ; oboInOwl:hasExactSynonym "CACD3", "choroidal dystrophy, central areolar, 3", "choroidal dystrophy, central areolar, with or without drusen" ; rdfs:subClassOf OMIMPS:215500 ; + skos:exactMatch UMLS:C2751055 ; biolink:category biolink:Disease . OMIM:613145 a owl:Class ; @@ -445016,9 +461712,9 @@ OMIM:613145 a owl:Class ; IAO:0000142 PMID:14645206, PMID:18182444 ; RO:0002525 CHR:9606chr1q21-q23 ; - oboInOwl:hasDbXref UMLS:C2751054 ; oboInOwl:hasExactSynonym "SLEB14", "systemic lupus erythematosus, susceptibility to, 14" ; + skos:exactMatch UMLS:C2751054 ; biolink:category biolink:Disease . OMIM:613148 a owl:Class ; @@ -445026,19 +461722,17 @@ OMIM:613148 a owl:Class ; IAO:0000142 PMID:19890111, PMID:21519361, PMID:22476154 ; - oboInOwl:hasDbXref UMLS:C2751053 ; oboInOwl:hasExactSynonym "IBD28", "inflammatory bowel disease 28, autosomal recessive", "inflammatory bowel disease, early-onset, autosomal recessive" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C2751053 ; biolink:category biolink:Disease . OMIM:613158 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2" ; IAO:0000142 PMID:17878207, PMID:17923109 ; - oboInOwl:hasDbXref UMLS:C3150418, - ORPHA:206559 ; oboInOwl:hasExactSynonym "MDDGC2", "muscular dystrophy, limb-girdle, iia 2n", "muscular dystrophy, limb-girdle, autosomal recessive 14", @@ -445046,34 +461740,36 @@ OMIM:613158 a owl:Class ; "muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related" ; rdfs:subClassOf OMIMPS:253600, OMIMPS:609308 ; + skos:exactMatch UMLS:C3150418, + ORPHA:206559 ; biolink:category biolink:Disease . OMIM:613159 a owl:Class ; rdfs:label "nephronophthisis-like nephropathy 1" ; IAO:0000142 PMID:20179356 ; - oboInOwl:hasDbXref UMLS:C3150419 ; oboInOwl:hasExactSynonym "NPHPL1", "nephronophthisis-like nephropathy 1" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C3150419 ; biolink:category biolink:Disease . OMIM:613161 a owl:Class ; rdfs:label "beta-ureidopropionase deficiency" ; IAO:0000142 PMID:15385443, PMID:17964839 ; - oboInOwl:hasDbXref UMLS:C1291512 ; oboInOwl:hasExactSynonym "UPB1D", "beta-ureidopropionase deficiency" ; + skos:exactMatch UMLS:C1291512 ; biolink:category biolink:Disease . OMIM:613162 a owl:Class ; rdfs:label "spastic paraplegia 45, autosomal recessive" ; IAO:0000142 PMID:19415352, PMID:24482476 ; - oboInOwl:hasDbXref UMLS:C3888209 ; oboInOwl:hasExactSynonym "SPG45", "spastic paraplegia 45, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3888209 ; biolink:category biolink:Disease . OMIM:613163 a owl:Class ; @@ -445085,8 +461781,8 @@ OMIM:613163 a owl:Class ; PMID:3790108, PMID:3939544, PMID:6148708 ; - oboInOwl:hasDbXref UMLS:C0342708 ; oboInOwl:hasExactSynonym "gaba-transaminase deficiency" ; + skos:exactMatch UMLS:C0342708 ; biolink:category biolink:Disease . OMIM:613164 a owl:Class ; @@ -445097,32 +461793,32 @@ OMIM:613164 a owl:Class ; PMID:21172849, PMID:21425343 ; RO:0002525 CHR:9606chr1q32 ; - oboInOwl:hasDbXref UMLS:C2751012 ; oboInOwl:hasExactSynonym "PARK16", "parkinson disease 16" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C2751012 ; biolink:category biolink:Disease . OMIM:613172 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1dd" ; IAO:0000142 PMID:19712804, PMID:20590677 ; - oboInOwl:hasDbXref UMLS:C2750995 ; oboInOwl:hasExactSynonym "CMD1DD", "cardiomyopathy, dilated, 1dd" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C2750995 ; biolink:category biolink:Disease . OMIM:613177 a owl:Class ; rdfs:label "cutis laxa, autosomal recessive, iia 1c" ; IAO:0000142 PMID:19836010, PMID:22829427 ; - oboInOwl:hasDbXref UMLS:C2750804 ; oboInOwl:hasExactSynonym "ARCL1C", "cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities", "cutis laxa, autosomal recessive, iia 1c", "urban-rifkin-davis syndrome" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C2750804 ; biolink:category biolink:Disease . OMIM:613192 a owl:Class ; @@ -445134,22 +461830,22 @@ OMIM:613192 a owl:Class ; PMID:20425834, PMID:21629298, PMID:22549410 ; - oboInOwl:hasDbXref UMLS:C2750791 ; oboInOwl:hasExactSynonym "MRT13", "intellectual developmental disorder, autosomal recessive 13", "mental retardation, autosomal recessive 13" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C2750791 ; biolink:category biolink:Disease . OMIM:613193 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 13" ; IAO:0000142 PMID:19944400, PMID:19944405 ; - oboInOwl:hasDbXref UMLS:C2750790 ; oboInOwl:hasExactSynonym "CILD13", "ciliary dyskinesia, primary, 13", "ciliary dyskinesia, primary, 13, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C2750790 ; biolink:category biolink:Disease . OMIM:613195 a owl:Class ; @@ -445158,11 +461854,11 @@ OMIM:613195 a owl:Class ; PMID:22486325, PMID:23754960, PMID:24940034 ; - oboInOwl:hasDbXref UMLS:C2750787 ; oboInOwl:hasExactSynonym "WMS4", "weill-marchesani syndrome 4", "weill-marchesani-like syndrome" ; rdfs:subClassOf OMIMPS:277600 ; + skos:exactMatch UMLS:C2750787 ; biolink:category biolink:Disease . OMIM:613204 a owl:Class ; @@ -445171,9 +461867,9 @@ OMIM:613204 a owl:Class ; PMID:19330236, PMID:9354797, PMID:9590299 ; - oboInOwl:hasDbXref UMLS:C2750786 ; oboInOwl:hasExactSynonym "muscular dystrophy, congenital, due to integrin alpha-7 deficiency", "myopathy, congenital, due to integrin alpha-7 deficiency" ; + skos:exactMatch UMLS:C2750786 ; biolink:category biolink:Disease . OMIM:613207 a owl:Class ; @@ -445181,11 +461877,11 @@ OMIM:613207 a owl:Class ; IAO:0000142 PMID:16115819, PMID:18305139 ; RO:0002525 CHR:9606chr9q33 ; - oboInOwl:hasDbXref UMLS:C2750782, - UMLS:C2750783 ; oboInOwl:hasExactSynonym "ASRT8", "asthma-related traits, susceptibility to, 8", "rhinoconjunctivitis, susceptibility to" ; + skos:exactMatch UMLS:C2750782, + UMLS:C2750783 ; biolink:category biolink:Disease . OMIM:613208 a owl:Class ; @@ -445218,8 +461914,6 @@ OMIM:613208 a owl:Class ; PMID:9804340 ; RO:0002525 CHR:9606chr3p25.1 ; RO:0003303 OMIM:278720 ; - oboInOwl:hasDbXref UMLS:C1421540, - UMLS:C2752147 ; oboInOwl:hasExactSynonym "XPC", "rad4, yeast, homolog of", "xpc complex subunit, DNA damage recognition and repair factor", @@ -445227,17 +461921,20 @@ OMIM:613208 a owl:Class ; "xpcc gene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7508 ; - skos:exactMatch HGNC_symbol:XPC ; + skos:exactMatch UMLS:C1421540, + UMLS:C2752147, + HGNC:12816, + HGNC_symbol:XPC ; biolink:category biolink:Gene . OMIM:613211 a owl:Class ; rdfs:label "amelogenesis imperfecta, hypomaturation type, iia3" ; IAO:0000142 PMID:19853237, PMID:20938048 ; - oboInOwl:hasDbXref UMLS:C2750771 ; oboInOwl:hasExactSynonym "AI2A3", "amelogenesis imperfecta, hypomaturation type, iia3" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C2750771 ; biolink:category biolink:Disease . OMIM:613216 a owl:Class ; @@ -445249,11 +461946,11 @@ OMIM:613216 a owl:Class ; PMID:19896113, PMID:20300565, PMID:308060 ; - oboInOwl:hasDbXref UMLS:C2750747 ; oboInOwl:hasExactSynonym "CSNB1C", "csnb, complete, autosomal recessive", "night blindness, congenital stationary, iia 1c" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C2750747 ; biolink:category biolink:Disease . OMIM:613217 a owl:Class ; @@ -445270,12 +461967,12 @@ OMIM:613217 a owl:Class ; PMID:8057225, PMID:9481629, PMID:9740211 ; - oboInOwl:hasDbXref UMLS:C2750737 ; oboInOwl:hasExactSynonym "DIAR5", "diarrhea 5, with tufting enteropathy, congenital", "enteropathy, congenital tufting", "intestinal epithelial cell dysplasia" ; rdfs:subClassOf OMIMPS:214700 ; + skos:exactMatch UMLS:C2750737 ; biolink:category biolink:Disease . OMIM:613219 a owl:Class ; @@ -445290,11 +461987,11 @@ OMIM:613219 a owl:Class ; PMID:23202124, PMID:8436255 ; RO:0002525 CHR:9606chr7p15-p13 ; - oboInOwl:hasDbXref UMLS:C2750735, - UMLS:C3150459 ; oboInOwl:hasExactSynonym "FGQTL2", "birth weight quantitative trait locus 1", "fasting plasma glucose level quantitative trait locus 2" ; + skos:exactMatch UMLS:C2750735, + UMLS:C3150459 ; biolink:category biolink:Disease . OMIM:613223 a owl:Class ; @@ -445304,11 +462001,11 @@ OMIM:613223 a owl:Class ; PMID:18461142, PMID:19456232, PMID:8838819 ; - oboInOwl:hasDbXref UMLS:C2750733, - UMLS:C2750734 ; oboInOwl:hasExactSynonym "LPRS5", "leprosy, protection against", "leprosy, susceptibility to, 5" ; + skos:exactMatch UMLS:C2750733, + UMLS:C2750734 ; biolink:category biolink:Disease . OMIM:613227 a owl:Class ; @@ -445321,11 +462018,11 @@ OMIM:613227 a owl:Class ; PMID:19461874, PMID:21885617, PMID:21937992 ; - oboInOwl:hasDbXref UMLS:C2750509 ; oboInOwl:hasExactSynonym "CAMRQ3", "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3", "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" ; rdfs:subClassOf OMIMPS:224050 ; + skos:exactMatch UMLS:C2750509 ; biolink:category biolink:Disease . OMIM:613233 a owl:Class ; @@ -445336,9 +462033,9 @@ OMIM:613233 a owl:Class ; PMID:20081858, PMID:22286214 ; RO:0002525 CHR:9606chr11q21-q22 ; - oboInOwl:hasDbXref UMLS:C2750485 ; oboInOwl:hasExactSynonym "FGQTL3", "fasting plasma glucose level quantitative trait locus 3" ; + skos:exactMatch UMLS:C2750485 ; biolink:category biolink:Disease . OMIM:613235 a owl:Class ; @@ -445349,8 +462046,8 @@ OMIM:613235 a owl:Class ; PMID:2334637, PMID:8324218, PMID:8989821 ; - oboInOwl:hasDbXref UMLS:C2750481 ; oboInOwl:hasExactSynonym "factor xiii, B subunit, deficiency of" ; + skos:exactMatch UMLS:C2750481 ; biolink:category biolink:Disease . OMIM:613237 a owl:Class ; @@ -445358,11 +462055,11 @@ OMIM:613237 a owl:Class ; IAO:0000142 PMID:14750104, PMID:16932363, PMID:20023659 ; - oboInOwl:hasDbXref UMLS:C2750475 ; oboInOwl:hasExactSynonym "FSGS5", "focal segmental glomerulosclerosis 5", "glomerulosclerosis, focal segmental, 5" ; rdfs:subClassOf OMIMPS:603278 ; + skos:exactMatch UMLS:C2750475 ; biolink:category biolink:Disease . OMIM:613238 a owl:Class ; @@ -445372,19 +462069,19 @@ OMIM:613238 a owl:Class ; PMID:15309690, PMID:19416804 ; RO:0002525 CHR:9606chr2q36.1-q36.3 ; - oboInOwl:hasDbXref UMLS:C2750474 ; oboInOwl:hasExactSynonym "SPDA3", "spondyloarthropathy, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:106300 ; + skos:exactMatch UMLS:C2750474 ; biolink:category biolink:Disease . OMIM:613239 a owl:Class ; rdfs:label "thyrotoxic periodic paralysis, susceptibility to, 2" ; IAO:0000142 PMID:20074522 ; - oboInOwl:hasDbXref UMLS:C2750473 ; oboInOwl:hasExactSynonym "TTPP2", "thyrotoxic periodic paralysis, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:188580 ; + skos:exactMatch UMLS:C2750473 ; biolink:category biolink:Disease . OMIM:613243 a owl:Class ; @@ -445395,10 +462092,10 @@ OMIM:613243 a owl:Class ; PMID:16302972, PMID:18572189, PMID:22815480 ; - oboInOwl:hasDbXref UMLS:C2750472 ; oboInOwl:hasExactSynonym "CMH13", "cardiomyopathy, familial hypertrophic, 13" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C2750472 ; biolink:category biolink:Disease . OMIM:613254 a owl:Class ; @@ -445427,22 +462124,22 @@ OMIM:613254 a owl:Class ; PMID:7979156, PMID:8825048, PMID:9881533 ; - oboInOwl:hasDbXref UMLS:C1860707, - UMLS:C2750460 ; oboInOwl:hasExactSynonym "TSC2", "tsc2 angiomyolipomas, renal, modifier of", "tuberous sclerosis 2" ; rdfs:subClassOf OMIMPS:191100 ; + skos:exactMatch UMLS:C1860707, + UMLS:C2750460 ; biolink:category biolink:Disease . OMIM:613255 a owl:Class ; rdfs:label "cardiomyopathy, familial hypertrophic, 15" ; IAO:0000142 PMID:16236538, PMID:16712796 ; - oboInOwl:hasDbXref UMLS:C2750459 ; oboInOwl:hasExactSynonym "CMH15", "cardiomyopathy, familial hypertrophic, 15" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C2750459 ; biolink:category biolink:Disease . OMIM:613266 a owl:Class ; @@ -445455,11 +462152,11 @@ OMIM:613266 a owl:Class ; PMID:9279758, PMID:9425902, PMID:9462749 ; - oboInOwl:hasDbXref UMLS:C2750452 ; oboInOwl:hasExactSynonym "WS4C", "waardenburg syndrome with hirschsprung disease, iia 4c", "waardenburg syndrome, iia 4c" ; rdfs:subClassOf OMIMPS:193500 ; + skos:exactMatch UMLS:C2750452 ; biolink:category biolink:Disease . OMIM:613269 a owl:Class ; @@ -445469,12 +462166,12 @@ OMIM:613269 a owl:Class ; PMID:24094747 ; RO:0002525 CHR:9606chr5q33.1-q35.2 ; RO:0003303 OMIM:5 ; - oboInOwl:hasDbXref UMLS:C2750449 ; oboInOwl:hasExactSynonym "FECD5", "corneal dystrophy, fuchs endothelial, 5", "corneal dystrophy, fuchs endothelial, late-onset", "fcd3 locus" ; rdfs:subClassOf OMIMPS:136800 ; + skos:exactMatch UMLS:C2750449 ; biolink:category biolink:Disease . OMIM:613271 a owl:Class ; @@ -445482,12 +462179,12 @@ OMIM:613271 a owl:Class ; IAO:0000142 PMID:20036349 ; RO:0002525 CHR:9606chr9p24.1-p22.1 ; RO:0003303 OMIM:7 ; - oboInOwl:hasDbXref UMLS:C2750447 ; oboInOwl:hasExactSynonym "FECD7", "corneal dystrophy, fuchs endothelial, 7", "corneal dystrophy, fuchs endothelial, late-onset", "fcd4 locus" ; rdfs:subClassOf OMIMPS:136800 ; + skos:exactMatch UMLS:C2750447 ; biolink:category biolink:Disease . OMIM:613280 a owl:Class ; @@ -445499,12 +462196,12 @@ OMIM:613280 a owl:Class ; PMID:22341971, PMID:22341972, PMID:24599576 ; - oboInOwl:hasDbXref UMLS:C2750442, - ORPHA:309854 ; oboInOwl:hasExactSynonym "HMNDYT1", "hypermanganesemia with dystonia 1", "hypermanganesemia with dystonia, polycythemia, and cirrhosis" ; rdfs:subClassOf OMIMPS:613280 ; + skos:exactMatch UMLS:C2750442, + ORPHA:309854 ; biolink:category biolink:Disease . OMIM:613282 a owl:Class ; @@ -445517,11 +462214,11 @@ OMIM:613282 a owl:Class ; PMID:22297845, PMID:26934227 ; RO:0002525 CHR:9606chr22q13 ; - oboInOwl:hasDbXref UMLS:C2750440, - UMLS:C2750441 ; oboInOwl:hasExactSynonym "NAFLD1", "fatty liver disease, nonalcoholic, susceptibility to, 1", "liver disease, alcoholic, susceptibility to, 1" ; + skos:exactMatch UMLS:C2750440, + UMLS:C2750441 ; biolink:category biolink:Disease . OMIM:613284 a owl:Class ; @@ -445531,28 +462228,28 @@ OMIM:613284 a owl:Class ; PMID:23222517, PMID:23794717 ; RO:0002525 CHR:9606chr22q12-q13 ; - oboInOwl:hasDbXref UMLS:C2750092 ; oboInOwl:hasExactSynonym "HCHGQ3", "hematocrit/hemoglobin quantitative trait locus 3", "hematocrit/hemoglobin quantitative trait locus on chromosome 22" ; + skos:exactMatch UMLS:C2750092 ; biolink:category biolink:Disease . OMIM:613285 a owl:Class ; rdfs:label "deafness, autosomal recessive 25" ; IAO:0000142 PMID:20137778 ; - oboInOwl:hasDbXref UMLS:C1414017 ; oboInOwl:hasExactSynonym "DFNB25", "deafness, autosomal recessive 25" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1414017 ; biolink:category biolink:Disease . OMIM:613290 a owl:Class ; rdfs:label "hearing loss, cisplatin-induced, susceptibility to" ; IAO:0000142 PMID:19898482 ; RO:0002525 CHR:9606chr6p22.3 ; - oboInOwl:hasDbXref UMLS:C2750088 ; oboInOwl:hasExactSynonym "CIHL", "hearing loss, cisplatin-induced, susceptibility to" ; + skos:exactMatch UMLS:C2750088 ; biolink:category biolink:Disease . OMIM:613291 a owl:Class ; @@ -445566,10 +462263,10 @@ OMIM:613291 a owl:Class ; PMID:7106511, PMID:9109422, PMID:9109432 ; - oboInOwl:hasDbXref UMLS:C2750087 ; oboInOwl:hasExactSynonym "PBAM1", "bile acid malabsorption, primary, 1", "pbam" ; + skos:exactMatch UMLS:C2750087 ; biolink:category biolink:Disease . OMIM:613307 a owl:Class ; @@ -445577,10 +462274,10 @@ OMIM:613307 a owl:Class ; IAO:0000142 PMID:19603065, PMID:20170898, PMID:20170899 ; - oboInOwl:hasDbXref UMLS:C2750082 ; oboInOwl:hasExactSynonym "DFNB79", "deafness, autosomal recessive 79" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C2750082 ; biolink:category biolink:Disease . OMIM:613308 a owl:Class ; @@ -445588,10 +462285,10 @@ OMIM:613308 a owl:Class ; IAO:0000142 PMID:20116044, PMID:23718193, PMID:23812780 ; - oboInOwl:hasDbXref UMLS:C2750081 ; oboInOwl:hasExactSynonym "DBA9", "diamond-blackfan anemia 9" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C2750081 ; biolink:category biolink:Disease . OMIM:613309 a owl:Class ; @@ -445600,10 +462297,10 @@ OMIM:613309 a owl:Class ; PMID:20116044, PMID:23812780, PMID:24942156 ; - oboInOwl:hasDbXref UMLS:C2750080 ; oboInOwl:hasExactSynonym "DBA10", "diamond-blackfan anemia 10" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C2750080 ; biolink:category biolink:Disease . OMIM:613310 a owl:Class ; @@ -445613,10 +462310,10 @@ OMIM:613310 a owl:Class ; PMID:20159112, PMID:21334594, PMID:22427576 ; - oboInOwl:hasDbXref UMLS:C2750079 ; oboInOwl:hasExactSynonym "EVR5", "exudative vitreoretinopathy 5" ; rdfs:subClassOf OMIMPS:133780 ; + skos:exactMatch UMLS:C2750079 ; biolink:category biolink:Disease . OMIM:613313 a owl:Class ; @@ -445626,21 +462323,21 @@ OMIM:613313 a owl:Class ; PMID:12469120, PMID:12490283, PMID:9450181 ; - oboInOwl:hasDbXref UMLS:C1865616 ; oboInOwl:hasExactSynonym "HFE2B", "hemochromatosis, iia 2b" ; rdfs:subClassOf OMIMPS:235200 ; + skos:exactMatch UMLS:C1865616 ; biolink:category biolink:Disease . OMIM:613318 a owl:Class ; rdfs:label "miyoshi muscular dystrophy 2" ; IAO:0000142 PMID:9673985 ; RO:0002525 CHR:9606chr8q22.3 ; - oboInOwl:hasDbXref UMLS:C2750077 ; oboInOwl:hasExactSynonym "MMD2", "miyoshi muscular dystrophy 2", "miyoshi myopathy 2" ; rdfs:subClassOf OMIMPS:254130 ; + skos:exactMatch UMLS:C2750077 ; biolink:category biolink:Disease . OMIM:613320 a owl:Class ; @@ -445649,11 +462346,11 @@ OMIM:613320 a owl:Class ; PMID:24458487, PMID:24786642, PMID:27354339 ; - oboInOwl:hasDbXref UMLS:C2750075 ; oboInOwl:hasExactSynonym "SMDMDM", "chondrodysplasia, megarbane-dagher-melki iia", "spondylometaphyseal dysplasia, megarbane-dagher-melki iia" ; rdfs:subClassOf OMIMPS:184255 ; + skos:exactMatch UMLS:C2750075 ; biolink:category biolink:Disease . OMIM:613325 a owl:Class ; @@ -445668,10 +462365,10 @@ OMIM:613325 a owl:Class ; PMID:24752781, PMID:8269278, PMID:8730291 ; - oboInOwl:hasDbXref UMLS:C2750074 ; oboInOwl:hasExactSynonym "RTPS2", "rhabdoid tumor predisposition syndrome 2" ; rdfs:subClassOf OMIMPS:609322 ; + skos:exactMatch UMLS:C2750074 ; biolink:category biolink:Disease . OMIM:613327 a owl:Class ; @@ -445683,21 +462380,21 @@ OMIM:613327 a owl:Class ; PMID:20300641, PMID:20684003, PMID:8313629 ; - oboInOwl:hasDbXref UMLS:C2750069 ; oboInOwl:hasExactSynonym "CGL4", "berardinelli-seip congenital lipodystrophy, iia 4, with muscular dystrophy", "lipodystrophy, berardinelli-seip congenital, iia 4, with muscular dystrophy", "lipodystrophy, congenital generalized, iia 4" ; rdfs:subClassOf OMIMPS:608594 ; + skos:exactMatch UMLS:C2750069 ; biolink:category biolink:Disease . OMIM:613328 a owl:Class ; rdfs:label "roifman-chitayat syndrome" ; IAO:0000142 PMID:19863561 ; - oboInOwl:hasDbXref UMLS:C2750068 ; oboInOwl:hasExactSynonym "ROCHIS", "combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay", "roifman-chitayat syndrome" ; + skos:exactMatch UMLS:C2750068 ; biolink:category biolink:Disease . OMIM:613330 a owl:Class ; @@ -445706,9 +462403,9 @@ OMIM:613330 a owl:Class ; PMID:20004766, PMID:29704686, PMID:3925497 ; - oboInOwl:hasDbXref UMLS:C2750066 ; oboInOwl:hasExactSynonym "SMMD", "spondylo-megaepiphyseal-metaphyseal dysplasia" ; + skos:exactMatch UMLS:C2750066 ; biolink:category biolink:Disease . OMIM:613339 a owl:Class ; @@ -445721,12 +462418,12 @@ OMIM:613339 a owl:Class ; PMID:5709924 ; RO:0002525 CHR:9606chr10q21.3-q22.3 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C4551550 ; oboInOwl:hasExactSynonym "HWE1", "bathing epilepsy", "epilepsy, hot water, 1", "water immersion epilepsy" ; rdfs:subClassOf OMIMPS:613339 ; + skos:exactMatch UMLS:C4551550 ; biolink:category biolink:Disease . OMIM:613340 a owl:Class ; @@ -445734,10 +462431,10 @@ OMIM:613340 a owl:Class ; IAO:0000142 PMID:19597845 ; RO:0002525 CHR:9606chr4q24-q28 ; RO:0003303 OMIM:2 ; - oboInOwl:hasDbXref UMLS:C3150536 ; oboInOwl:hasExactSynonym "HWE2", "epilepsy, hot water, 2" ; rdfs:subClassOf OMIMPS:613339 ; + skos:exactMatch UMLS:C3150536 ; biolink:category biolink:Disease . OMIM:613341 a owl:Class ; @@ -445746,14 +462443,14 @@ OMIM:613341 a owl:Class ; PMID:17011878, PMID:18055821, PMID:9326941 ; - oboInOwl:hasDbXref UMLS:C2750063, - UMLS:C2750064, - UMLS:C2750065 ; oboInOwl:hasExactSynonym "LCA14", "leber congenital amaurosis 14", "retinal dystrophy, early-onset severe, lrat-related", "retinitis pigmentosa, juvenile, lrat-related" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C2750063, + UMLS:C2750064, + UMLS:C2750065 ; biolink:category biolink:Disease . OMIM:613348 a owl:Class ; @@ -445761,95 +462458,95 @@ OMIM:613348 a owl:Class ; IAO:0000142 PMID:17200668, PMID:19264984, PMID:25356972 ; - oboInOwl:hasDbXref UMLS:C3150547 ; oboInOwl:hasExactSynonym "pancreatic cancer, susceptibility to, 3", "pnca3" ; + skos:exactMatch UMLS:C3150547 ; biolink:category biolink:Disease . OMIM:613353 a owl:Class ; rdfs:label "mononeuropathy of the median nerve, mild" ; IAO:0000142 PMID:20220177 ; - oboInOwl:hasDbXref UMLS:C3150596 ; oboInOwl:hasExactSynonym "MNMN", "carpal tunnel syndrome, susceptibility to", "mononeuropathy of the median nerve, mild" ; + skos:exactMatch UMLS:C3150596 ; biolink:category biolink:Disease . OMIM:613364 a owl:Class ; rdfs:label "spastic paraplegia 41, autosomal dominant" ; IAO:0000142 PMID:18364116 ; RO:0002525 CHR:9606chr11p14.1-p11.2 ; - oboInOwl:hasDbXref UMLS:C3888208 ; oboInOwl:hasExactSynonym "SPG41", "spastic paraplegia 41, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3888208 ; biolink:category biolink:Disease . OMIM:613370 a owl:Class ; rdfs:label "maturity-onset diabetes of the young, iia 10" ; IAO:0000142 PMID:18162506, PMID:18192540 ; - oboInOwl:hasDbXref UMLS:C3150617 ; oboInOwl:hasExactSynonym "MODY10", "maturity-onset diabetes of the young, iia 10" ; + skos:exactMatch UMLS:C3150617 ; biolink:category biolink:Disease . OMIM:613371 a owl:Class ; rdfs:label "spinocerebellar ataxia 30" ; IAO:0000142 PMID:18996908 ; RO:0002525 CHR:9606chr4q34.3-q35.1 ; - oboInOwl:hasDbXref UMLS:C2936793 ; oboInOwl:hasExactSynonym "SCA30", "spinocerebellar ataxia 30" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C2936793 ; biolink:category biolink:Disease . OMIM:613375 a owl:Class ; rdfs:label "maturity-onset diabetes of the young, iia 11" ; IAO:0000142 PMID:15111509, PMID:19667185 ; - oboInOwl:hasDbXref UMLS:C3150618, - ORPHA:552 ; oboInOwl:hasExactSynonym "MODY11", "maturity-onset diabetes of the young, iia 11" ; + skos:exactMatch UMLS:C3150618, + ORPHA:552 ; biolink:category biolink:Disease . OMIM:613376 a owl:Class ; rdfs:label "neuronopathy, distal hereditary motor, iia 2c" ; IAO:0000142 PMID:20142617 ; - oboInOwl:hasDbXref UMLS:C3150619 ; oboInOwl:hasExactSynonym "HMN2C", "hmn 2c", "neuronopathy, distal hereditary motor, iia 2c", "neuropathy, distal hereditary motor, iia 2c" ; + skos:exactMatch UMLS:C3150619 ; biolink:category biolink:Disease . OMIM:613382 a owl:Class ; rdfs:label "brachydactyly, iia e2" ; IAO:0000142 PMID:20015959, PMID:20170896 ; - oboInOwl:hasDbXref UMLS:C3150644 ; oboInOwl:hasExactSynonym "BDE2", "brachydactyly, iia e2" ; + skos:exactMatch UMLS:C3150644 ; biolink:category biolink:Disease . OMIM:613385 a owl:Class ; rdfs:label "autoimmune disease, multisystem, with facial dysmorphism" ; IAO:0000142 PMID:20170897, PMID:31091003 ; - oboInOwl:hasDbXref UMLS:C3150649, - ORPHA:228426 ; oboInOwl:hasExactSynonym "ADMFD", "autoimmune disease, multisystem, with facial dysmorphism" ; + skos:exactMatch UMLS:C3150649, + ORPHA:228426 ; biolink:category biolink:Disease . OMIM:613387 a owl:Class ; rdfs:label "fatty liver disease, nonalcoholic, susceptibility to, 2" ; IAO:0000142 PMID:20335584 ; RO:0002525 CHR:9606chr11q23 ; - oboInOwl:hasDbXref UMLS:C3150651 ; oboInOwl:hasExactSynonym "NAFLD2", "fatty liver disease, nonalcoholic, susceptibility to, 2" ; + skos:exactMatch UMLS:C3150651 ; biolink:category biolink:Disease . OMIM:613391 a owl:Class ; @@ -445857,22 +462554,22 @@ OMIM:613391 a owl:Class ; IAO:0000142 PMID:14534255, PMID:19888295, PMID:20346435 ; - oboInOwl:hasDbXref UMLS:C3150654 ; oboInOwl:hasExactSynonym "DFNB84A", "deafness, autosomal recessive 84", "deafness, autosomal recessive 84a", "deafness, autosomal recessive 84a, with vestibular dysfunction" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3150654 ; biolink:category biolink:Disease . OMIM:613392 a owl:Class ; rdfs:label "deafness, autosomal recessive 85" ; IAO:0000142 PMID:19888295 ; RO:0002525 CHR:9606chr17p12-q11.2 ; - oboInOwl:hasDbXref UMLS:C3160740 ; oboInOwl:hasExactSynonym "DFNB85", "deafness, autosomal recessive 85" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3160740 ; biolink:category biolink:Disease . OMIM:613393 a owl:Class ; @@ -445880,9 +462577,9 @@ OMIM:613393 a owl:Class ; IAO:0000142 PMID:11777972, PMID:15816828, PMID:7798619 ; - oboInOwl:hasDbXref UMLS:C3150657 ; oboInOwl:hasExactSynonym "birbeck granule deficiency", "birbeck granules, absence of" ; + skos:exactMatch UMLS:C3150657 ; biolink:category biolink:Disease . OMIM:613398 a owl:Class ; @@ -445890,10 +462587,10 @@ OMIM:613398 a owl:Class ; IAO:0000142 PMID:20137776, PMID:23033317, PMID:30216658 ; - oboInOwl:hasDbXref UMLS:C3150658, - ORPHA:280558 ; oboInOwl:hasExactSynonym "WABS", "warsaw breakage syndrome" ; + skos:exactMatch UMLS:C3150658, + ORPHA:280558 ; biolink:category biolink:Disease . OMIM:613399 a owl:Class ; @@ -445902,36 +462599,36 @@ OMIM:613399 a owl:Class ; PMID:21616938, PMID:21990120, PMID:22538716 ; - oboInOwl:hasDbXref UMLS:C3150659, - UMLS:C3150660, - UMLS:C3150661 ; oboInOwl:hasExactSynonym "BROVCA3", "breast cancer, familial, susceptibility to, 3", "breast-ovarian cancer, familial, susceptibility to, 3", "ovarian cancer, familial, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:604370 ; + skos:exactMatch UMLS:C3150659, + UMLS:C3150660, + UMLS:C3150661 ; biolink:category biolink:Disease . OMIM:613402 a owl:Class ; rdfs:label "microcephaly, seizures, and developmental delay" ; IAO:0000142 PMID:20118933, PMID:23224214 ; - oboInOwl:hasDbXref UMLS:C3150667, - ORPHA:1934 ; oboInOwl:hasExactSynonym "MCSZ", "developmental and epileptic encephalopathy 10", "epileptic encephalopathy, early infantile, 10", "microcephaly, seizures, and developmental delay" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3150667, + ORPHA:1934 ; biolink:category biolink:Disease . OMIM:613404 a owl:Class ; rdfs:label "arthrogryposis, renal dysfunction, and cholestasis 2" ; IAO:0000142 PMID:20190753 ; - oboInOwl:hasDbXref UMLS:C3150672 ; oboInOwl:hasExactSynonym "ARCS2", "arthrogryposis, renal dysfunction, and cholestasis 2" ; rdfs:subClassOf OMIMPS:208085 ; + skos:exactMatch UMLS:C3150672 ; biolink:category biolink:Disease . OMIM:613406 a owl:Class ; @@ -445944,13 +462641,13 @@ OMIM:613406 a owl:Class ; PMID:27399968, PMID:3198122, PMID:9650775 ; - oboInOwl:hasDbXref UMLS:C3150674, - UMLS:C3150675, - UMLS:C4310804 ; oboInOwl:hasExactSynonym "WITKOS", "chromosome 15q24 deletion syndrome", "chromosome 15q24 duplication syndrome", "witteveen-kolk syndrome" ; + skos:exactMatch UMLS:C3150674, + UMLS:C3150675, + UMLS:C4310804 ; biolink:category biolink:Disease . OMIM:613407 a owl:Class ; @@ -445960,9 +462657,9 @@ OMIM:613407 a owl:Class ; PMID:20393182, PMID:22984114 ; RO:0002525 CHR:9606chr13q14.11 ; - oboInOwl:hasDbXref UMLS:C3150676 ; oboInOwl:hasExactSynonym "LPRS6", "leprosy, susceptibility to, 6" ; + skos:exactMatch UMLS:C3150676 ; biolink:category biolink:Disease . OMIM:613410 a owl:Class ; @@ -445972,11 +462669,11 @@ OMIM:613410 a owl:Class ; PMID:18621663, PMID:18698615, PMID:8655659 ; - oboInOwl:hasDbXref UMLS:C3150677 ; oboInOwl:hasExactSynonym "AUTS16", "autism with or without seizures", "autism, susceptibility to, 16" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C3150677 ; biolink:category biolink:Disease . OMIM:613411 a owl:Class ; @@ -445985,30 +462682,30 @@ OMIM:613411 a owl:Class ; PMID:17070587, PMID:7670478, PMID:9020843 ; - oboInOwl:hasDbXref UMLS:C3150678 ; oboInOwl:hasExactSynonym "night blindness, congenital stationary, oguchi iia 2", "oguchi disease 2" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C3150678 ; biolink:category biolink:Disease . OMIM:613412 a owl:Class ; rdfs:label "esophagitis, eosinophilic, 2" ; IAO:0000142 PMID:20208534 ; RO:0002525 CHR:9606chr5q22 ; - oboInOwl:hasDbXref UMLS:C3150679 ; oboInOwl:hasExactSynonym "EOE2", "esophagitis, eosinophilic, 2" ; + skos:exactMatch UMLS:C3150679 ; biolink:category biolink:Disease . OMIM:613418 a owl:Class ; rdfs:label "bone mineral density quantitative trait locus 15" ; IAO:0000142 PMID:19920351 ; - oboInOwl:hasDbXref UMLS:C3150680 ; oboInOwl:hasExactSynonym "BMND15", "bone mineral density quantitative trait locus 15", "compression fracture, susceptibility to", "metaphyseal fracture, susceptibility to", "osteoporosis, susceptibility to" ; + skos:exactMatch UMLS:C3150680 ; biolink:category biolink:Disease . OMIM:613424 a owl:Class ; @@ -446019,13 +462716,13 @@ OMIM:613424 a owl:Class ; PMID:17611253, PMID:18506004, PMID:9563954 ; - oboInOwl:hasDbXref UMLS:C3150681, - UMLS:C3150682 ; oboInOwl:hasExactSynonym "CMD1R", "cardiomyopathy, dilated, 1r", "left ventricular noncompaction 4" ; rdfs:subClassOf OMIMPS:115200, OMIMPS:604169 ; + skos:exactMatch UMLS:C3150681, + UMLS:C3150682 ; biolink:category biolink:Disease . OMIM:613428 a owl:Class ; @@ -446033,10 +462730,10 @@ OMIM:613428 a owl:Class ; IAO:0000142 PMID:20398884, PMID:20398886, PMID:24780881 ; - oboInOwl:hasDbXref UMLS:C3150691 ; oboInOwl:hasExactSynonym "RP54", "retinitis pigmentosa 54" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3150691 ; biolink:category biolink:Disease . OMIM:613436 a owl:Class ; @@ -446046,10 +462743,10 @@ OMIM:613436 a owl:Class ; PMID:18698615, PMID:20473310, PMID:8655659 ; - oboInOwl:hasDbXref UMLS:C3150693 ; oboInOwl:hasExactSynonym "AUTS17", "autism, susceptibility to, 17" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C3150693 ; biolink:category biolink:Disease . OMIM:613440 a owl:Class ; @@ -446057,9 +462754,9 @@ OMIM:613440 a owl:Class ; IAO:0000142 PMID:18391951, PMID:19570815 ; RO:0002525 CHR:9606chr2q37.1 ; - oboInOwl:hasDbXref UMLS:C3150694 ; oboInOwl:hasExactSynonym "STQTL21", "stature quantitative trait locus 21" ; + skos:exactMatch UMLS:C3150694 ; biolink:category biolink:Disease . OMIM:613443 a owl:Class ; @@ -446072,23 +462769,23 @@ OMIM:613443 a owl:Class ; PMID:20513142, PMID:23001426, PMID:23708187 ; - oboInOwl:hasDbXref UMLS:C3150700, - UMLS:C4225434 ; oboInOwl:hasExactSynonym "NEDHSIL", "chromosome 5q14.3 deletion syndrome, proximal", "mental retardation, autosomal dominant 20, formerly", "mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations", "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language" ; + skos:exactMatch UMLS:C3150700, + UMLS:C4225434 ; biolink:category biolink:Disease . OMIM:613453 a owl:Class ; rdfs:label "deafness, autosomal recessive 91" ; IAO:0000142 PMID:20451170, PMID:24963352 ; - oboInOwl:hasDbXref UMLS:C3150704 ; oboInOwl:hasExactSynonym "DFNB91", "deafness, autosomal recessive 91" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3150704 ; biolink:category biolink:Disease . OMIM:613454 a owl:Class ; @@ -446102,19 +462799,19 @@ OMIM:613454 a owl:Class ; PMID:21910242, PMID:24766421, PMID:28661489 ; - oboInOwl:hasDbXref UMLS:C3150705 ; oboInOwl:hasExactSynonym "rett syndrome, congenital variant" ; + skos:exactMatch UMLS:C3150705 ; biolink:category biolink:Disease . OMIM:613456 a owl:Class ; rdfs:label "frontonasal dysplasia 3" ; IAO:0000142 PMID:20451171, PMID:27324866 ; - oboInOwl:hasDbXref UMLS:C3150706, - ORPHA:306542 ; oboInOwl:hasExactSynonym "FND3", "frontonasal dysplasia 3" ; rdfs:subClassOf OMIMPS:136760 ; + skos:exactMatch UMLS:C3150706, + ORPHA:306542 ; biolink:category biolink:Disease . OMIM:613459 a owl:Class ; @@ -446123,9 +462820,9 @@ OMIM:613459 a owl:Class ; PMID:20372150, PMID:23202124 ; RO:0002525 CHR:9606chr3q25.3 ; - oboInOwl:hasDbXref UMLS:C3150709 ; oboInOwl:hasExactSynonym "BWQTL2", "birth weight quantitative trait locus 2" ; + skos:exactMatch UMLS:C3150709 ; biolink:category biolink:Disease . OMIM:613460 a owl:Class ; @@ -446137,22 +462834,22 @@ OMIM:613460 a owl:Class ; PMID:23202124, PMID:8436255 ; RO:0002525 CHR:9606chr3q21 ; - oboInOwl:hasDbXref UMLS:C3150710, - UMLS:C3150711, - UMLS:C3150712 ; oboInOwl:hasExactSynonym "FGQTL6", "birth weight quantitative trait locus 3", "fasting plasma glucose level quantitative trait locus 6", "plasma glucose, 2-hour, quantitative trait locus 1" ; + skos:exactMatch UMLS:C3150710, + UMLS:C3150711, + UMLS:C3150712 ; biolink:category biolink:Disease . OMIM:613462 a owl:Class ; rdfs:label "fasting plasma glucose level quantitative trait locus 4" ; IAO:0000142 PMID:20081858 ; RO:0002525 CHR:9606chr7p21.2 ; - oboInOwl:hasDbXref UMLS:C3150713 ; oboInOwl:hasExactSynonym "FGQTL4", "fasting plasma glucose level quantitative trait locus 4" ; + skos:exactMatch UMLS:C3150713 ; biolink:category biolink:Disease . OMIM:613463 a owl:Class ; @@ -446165,9 +462862,9 @@ OMIM:613463 a owl:Class ; PMID:19643913, PMID:20081858, PMID:20574426 ; - oboInOwl:hasDbXref UMLS:C3150714 ; oboInOwl:hasExactSynonym "FGQTL5", "fasting plasma glucose level quantitative trait locus 5" ; + skos:exactMatch UMLS:C3150714 ; biolink:category biolink:Disease . OMIM:613470 a owl:Class ; @@ -446203,9 +462900,9 @@ OMIM:613470 a owl:Class ; PMID:8499925, PMID:870323, PMID:9856489 ; - oboInOwl:hasDbXref UMLS:C3150730, - ORPHA:712 ; oboInOwl:hasExactSynonym "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" ; + skos:exactMatch UMLS:C3150730, + ORPHA:712 ; biolink:category biolink:Disease . OMIM:613477 a owl:Class ; @@ -446216,12 +462913,12 @@ OMIM:613477 a owl:Class ; PMID:22258530, PMID:22429196, PMID:22656320 ; - oboInOwl:hasDbXref UMLS:C3150731, - ORPHA:3451 ; oboInOwl:hasExactSynonym "DEE5", "developmental and epileptic encephalopathy 5", "epileptic encephalopathy, early infantile, 5" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3150731, + ORPHA:3451 ; biolink:category biolink:Disease . OMIM:613480 a owl:Class ; @@ -446230,11 +462927,11 @@ OMIM:613480 a owl:Class ; PMID:21266381, PMID:23410910, PMID:24744435 ; - oboInOwl:hasDbXref UMLS:C4747646 ; oboInOwl:hasExactSynonym "LMPHM3", "lymphatic malformation 3", "lymphedema, hereditary, ic, formerly" ; rdfs:subClassOf OMIMPS:153100 ; + skos:exactMatch UMLS:C4747646 ; biolink:category biolink:Disease . OMIM:613485 a owl:Class ; @@ -446243,10 +462940,10 @@ OMIM:613485 a owl:Class ; PMID:20560207, PMID:23872692, PMID:24574546 ; - oboInOwl:hasDbXref UMLS:C3150733 ; oboInOwl:hasExactSynonym "LQT13", "long qt syndrome 13" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C3150733 ; biolink:category biolink:Disease . OMIM:613490 a owl:Class ; @@ -446358,9 +463055,9 @@ OMIM:613490 a owl:Class ; PMID:8977959, PMID:9692092, PMID:9826709 ; - oboInOwl:hasDbXref UMLS:C0221757 ; oboInOwl:hasExactSynonym "A1ATD", "alpha-1-antitrypsin deficiency" ; + skos:exactMatch UMLS:C0221757 ; biolink:category biolink:Disease . OMIM:613493 a owl:Class ; @@ -446371,42 +463068,42 @@ OMIM:613493 a owl:Class ; PMID:21159371, PMID:21330302, PMID:24418477 ; - oboInOwl:hasDbXref UMLS:C3150738 ; oboInOwl:hasExactSynonym "CVID3", "antibody deficiency due to cd19 defect", "immunodeficiency, common variable, 3" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C3150738 ; biolink:category biolink:Disease . OMIM:613494 a owl:Class ; rdfs:label "immunodeficiency, common variable, 4" ; IAO:0000142 PMID:19666484 ; - oboInOwl:hasDbXref UMLS:C3150739 ; oboInOwl:hasExactSynonym "CVID4", "antibody deficiency due to baffr defect", "immunodeficiency, common variable, 4" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C3150739 ; biolink:category biolink:Disease . OMIM:613495 a owl:Class ; rdfs:label "immunodeficiency, common variable, 5" ; IAO:0000142 PMID:20038800 ; - oboInOwl:hasDbXref UMLS:C3150740, - ORPHA:1572 ; oboInOwl:hasExactSynonym "CVID5", "antibody deficiency due to cd20 defect", "immunodeficiency, common variable, 5" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C3150740, + ORPHA:1572 ; biolink:category biolink:Disease . OMIM:613496 a owl:Class ; rdfs:label "immunodeficiency, common variable, 6" ; IAO:0000142 PMID:20237408 ; - oboInOwl:hasDbXref UMLS:C3150741 ; oboInOwl:hasExactSynonym "CVID6", "antibody deficiency due to cd81 defect", "immunodeficiency, common variable, 6" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C3150741 ; biolink:category biolink:Disease . OMIM:613498 a owl:Class ; @@ -446414,64 +463111,64 @@ OMIM:613498 a owl:Class ; IAO:0000142 PMID:16926255, PMID:19574343 ; RO:0002525 CHR:9606chr17p13 ; - oboInOwl:hasDbXref UMLS:C3150748 ; oboInOwl:hasExactSynonym "SXGQTL1", "sex hormone-binding globulin circulating level quantitative trait locus", "testosterone circulating level quantitative trait locus, due to sex hormone-binding globulin" ; + skos:exactMatch UMLS:C3150748 ; biolink:category biolink:Disease . OMIM:613500 a owl:Class ; rdfs:label "agammaglobulinemia 2, autosomal recessive" ; IAO:0000142 PMID:25502423, PMID:9419212 ; - oboInOwl:hasDbXref UMLS:C3150750, - ORPHA:229717, - ORPHA:33110 ; oboInOwl:hasExactSynonym "AGM2", "agammaglobulinemia 2, autosomal recessive", "agammaglobulinemia, autosomal recessive, due to igll1 defect" ; rdfs:subClassOf OMIMPS:601495 ; + skos:exactMatch UMLS:C3150750, + ORPHA:229717, + ORPHA:33110 ; biolink:category biolink:Disease . OMIM:613501 a owl:Class ; rdfs:label "agammaglobulinemia 3, autosomal recessive" ; IAO:0000142 PMID:10525050, PMID:11920841 ; - oboInOwl:hasDbXref UMLS:C3150751 ; oboInOwl:hasExactSynonym "AGM3", "agammaglobulinemia 3, autosomal recessive", "agammaglobulinemia, autosomal recessive, due to cd79a defect" ; rdfs:subClassOf OMIMPS:601495 ; + skos:exactMatch UMLS:C3150751 ; biolink:category biolink:Disease . OMIM:613502 a owl:Class ; rdfs:label "agammaglobulinemia 4, autosomal recessive" ; IAO:0000142 PMID:10583958 ; - oboInOwl:hasDbXref UMLS:C3150752 ; oboInOwl:hasExactSynonym "AGM4", "agammaglobulinemia 4, autosomal recessive", "agammaglobulinemia, autosomal recessive, due to blnk defect" ; rdfs:subClassOf OMIMPS:601495 ; + skos:exactMatch UMLS:C3150752 ; biolink:category biolink:Disease . OMIM:613506 a owl:Class ; rdfs:label "agammaglobulinemia 5, autosomal dominant" ; IAO:0000142 PMID:14660746 ; - oboInOwl:hasDbXref UMLS:C3150753 ; oboInOwl:hasExactSynonym "AGM5", "agammaglobulinemia 5, autosomal dominant", "agammaglobulinemia, autosomal dominant, due to lrrc8a defect" ; rdfs:subClassOf OMIMPS:601495 ; + skos:exactMatch UMLS:C3150753 ; biolink:category biolink:Disease . OMIM:613508 a owl:Class ; rdfs:label "sodium serum level quantitative trait locus 1" ; IAO:0000142 PMID:19666518 ; - oboInOwl:hasDbXref UMLS:C0020625, - UMLS:C3150755 ; oboInOwl:hasExactSynonym "SSQTL1", "hyponatremia", "sodium serum level quantitative trait locus 1" ; + skos:exactMatch UMLS:C0020625, + UMLS:C3150755 ; biolink:category biolink:Disease . OMIM:613517 a owl:Class ; @@ -446484,22 +463181,22 @@ OMIM:613517 a owl:Class ; PMID:21850159, PMID:23127749, PMID:8411053 ; - oboInOwl:hasDbXref UMLS:C3150757 ; oboInOwl:hasExactSynonym "MCOP6", "microphthalmia, isolated 6", "microphthalmia, posterior nonsyndromic" ; rdfs:subClassOf OMIMPS:251600 ; + skos:exactMatch UMLS:C3150757 ; biolink:category biolink:Disease . OMIM:613518 a owl:Class ; rdfs:label "dermatitis, atopic, 8" ; IAO:0000142 PMID:19517137 ; RO:0002525 CHR:9606chr4q22.1 ; - oboInOwl:hasDbXref UMLS:C3150763 ; oboInOwl:hasExactSynonym "ATOD8", "dermatitis, atopic, 8", "dermatitis, atopic, severity of" ; rdfs:subClassOf OMIMPS:603165 ; + skos:exactMatch UMLS:C3150763 ; biolink:category biolink:Disease . OMIM:613519 a owl:Class ; @@ -446507,10 +463204,10 @@ OMIM:613519 a owl:Class ; IAO:0000142 PMID:12045207, PMID:19517137 ; RO:0002525 CHR:9606chr3p24 ; - oboInOwl:hasDbXref UMLS:C3150764 ; oboInOwl:hasExactSynonym "ATOD9", "dermatitis, atopic, 9" ; rdfs:subClassOf OMIMPS:603165 ; + skos:exactMatch UMLS:C3150764 ; biolink:category biolink:Disease . OMIM:613522 a owl:Class ; @@ -446525,23 +463222,24 @@ OMIM:613522 a owl:Class ; PMID:8270261 ; RO:0002525 CHR:9606chr7q32.1 ; RO:0003303 OMIM:190900 ; - oboInOwl:hasDbXref UMLS:C1412770 ; oboInOwl:hasExactSynonym "OPN1SW", "blue cone pigment", "opsin 1, short-wave-sensitive" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:611 ; - skos:exactMatch HGNC_symbol:OPN1SW ; + skos:exactMatch UMLS:C1412770, + HGNC:1012, + HGNC_symbol:OPN1SW ; biolink:category biolink:Gene . OMIM:613530 a owl:Class ; rdfs:label "muscular dystrophy, limb-girdle, iia 1h" ; IAO:0000142 PMID:20068593 ; RO:0002525 CHR:9606chr3p25.1-p23 ; - oboInOwl:hasDbXref UMLS:C3150786 ; oboInOwl:hasExactSynonym "LGMD1H", "muscular dystrophy, limb-girdle, iia 1h" ; rdfs:subClassOf OMIMPS:603511 ; + skos:exactMatch UMLS:C3150786 ; biolink:category biolink:Disease . OMIM:613545 a owl:Class ; @@ -446551,11 +463249,11 @@ OMIM:613545 a owl:Class ; PMID:4694559, PMID:913905 ; RO:0002525 CHR:9606chr1p34-p32 ; - oboInOwl:hasDbXref UMLS:C3150792 ; oboInOwl:hasExactSynonym "commissural cleft, isolated", "lateral cleft, isolated", "macrostomia, isolated", "transverse cleft, isolated" ; + skos:exactMatch UMLS:C3150792 ; biolink:category biolink:Disease . OMIM:613547 a owl:Class ; @@ -446563,35 +463261,35 @@ OMIM:613547 a owl:Class ; IAO:0000142 PMID:18391951, PMID:19466457 ; RO:0002525 CHR:9606chr16q24 ; - oboInOwl:hasDbXref UMLS:C3150793 ; oboInOwl:hasExactSynonym "STQTL22", "stature quantitative trait locus 22" ; + skos:exactMatch UMLS:C3150793 ; biolink:category biolink:Disease . OMIM:613548 a owl:Class ; rdfs:label "stature quantitative trait locus 23" ; IAO:0000142 PMID:19466457 ; RO:0002525 CHR:9606chr1p32 ; - oboInOwl:hasDbXref UMLS:C3150794 ; oboInOwl:hasExactSynonym "STQTL23", "stature quantitative trait locus 23" ; + skos:exactMatch UMLS:C3150794 ; biolink:category biolink:Disease . OMIM:613549 a owl:Class ; rdfs:label "stature quantitative trait locus 24" ; IAO:0000142 PMID:19466457 ; RO:0002525 CHR:9606chr2p16 ; - oboInOwl:hasDbXref UMLS:C3150795 ; oboInOwl:hasExactSynonym "STQTL24", "stature quantitative trait locus 24" ; + skos:exactMatch UMLS:C3150795 ; biolink:category biolink:Disease . OMIM:613551 a owl:Class ; rdfs:label "autoimmune disease, susceptibility to, 6" ; IAO:0000142 PMID:20555325 ; - oboInOwl:hasDbXref UMLS:C3150797 ; oboInOwl:hasExactSynonym "AIS6", "autoimmune disease, susceptibility to, 6" ; + skos:exactMatch UMLS:C3150797 ; biolink:category biolink:Disease . OMIM:613554 a owl:Class ; @@ -446657,11 +463355,6 @@ OMIM:613554 a owl:Class ; PMID:8486782, PMID:8622978, PMID:9253800 ; - oboInOwl:hasDbXref UMLS:C1264040, - UMLS:C1282968, - UMLS:C1282971, - UMLS:C1282974, - UMLS:C1282975 ; oboInOwl:hasExactSynonym "VWD2", "von willebrand disease, iia 2", "von willebrand disease, iia 2a", @@ -446669,6 +463362,11 @@ OMIM:613554 a owl:Class ; "von willebrand disease, iia 2m", "von willebrand disease, iia 2n", "vwd, iia 2" ; + skos:exactMatch UMLS:C1264040, + UMLS:C1282968, + UMLS:C1282971, + UMLS:C1282974, + UMLS:C1282975 ; biolink:category biolink:Disease . OMIM:613561 a owl:Class ; @@ -446679,10 +463377,10 @@ OMIM:613561 a owl:Class ; PMID:23918765, PMID:24344687, PMID:24430573 ; - oboInOwl:hasDbXref UMLS:C3150802 ; oboInOwl:hasExactSynonym "MLASA2", "myopathy, lactic acidosis, and sideroblastic anemia 2" ; rdfs:subClassOf OMIMPS:600462 ; + skos:exactMatch UMLS:C3150802 ; biolink:category biolink:Disease . OMIM:613563 a owl:Class ; @@ -446692,20 +463390,20 @@ OMIM:613563 a owl:Class ; PMID:20619386, PMID:20694012, PMID:25358541 ; - oboInOwl:hasDbXref UMLS:C3150803 ; oboInOwl:hasExactSynonym "NSLL", "cbl mutation-associated syndrome", "cbl syndrome", "noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" ; + skos:exactMatch UMLS:C3150803 ; biolink:category biolink:Disease . OMIM:613566 a owl:Class ; rdfs:label "fetal hemoglobin quantitative trait locus 6" ; IAO:0000142 PMID:20676099 ; - oboInOwl:hasDbXref UMLS:C3150805 ; oboInOwl:hasExactSynonym "HBFQTL6", "fetal hemoglobin quantitative trait locus 6", "hereditary persistence of fetal hemoglobin, klf1-related" ; + skos:exactMatch UMLS:C3150805 ; biolink:category biolink:Disease . OMIM:613571 a owl:Class ; @@ -446719,10 +463417,10 @@ OMIM:613571 a owl:Class ; PMID:2932643, PMID:6587354, PMID:9360545 ; - oboInOwl:hasDbXref UMLS:C1860042 ; oboInOwl:hasExactSynonym "adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency", "disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency", "disordered steroidogenesis due to por deficiency" ; + skos:exactMatch UMLS:C1860042 ; biolink:category biolink:Disease . OMIM:613573 a owl:Class ; @@ -446732,39 +463430,39 @@ OMIM:613573 a owl:Class ; PMID:21346770, PMID:24577405, PMID:25529316 ; - oboInOwl:hasDbXref UMLS:C3150807 ; oboInOwl:hasExactSynonym "EDSS1", "ectodermal dysplasia-syndactyly syndrome 1" ; rdfs:subClassOf OMIMPS:613573 ; + skos:exactMatch UMLS:C3150807 ; biolink:category biolink:Disease . OMIM:613576 a owl:Class ; rdfs:label "ectodermal dysplasia-syndactyly syndrome 2" ; IAO:0000142 PMID:19221800 ; RO:0002525 CHR:9606chr7p21.2-p14.3 ; - oboInOwl:hasDbXref UMLS:C3150809 ; oboInOwl:hasExactSynonym "EDSS2", "ectodermal dysplasia-syndactyly syndrome 2" ; rdfs:subClassOf OMIMPS:613573 ; + skos:exactMatch UMLS:C3150809 ; biolink:category biolink:Disease . OMIM:613581 a owl:Class ; rdfs:label "retinitis pigmentosa 56" ; IAO:0000142 PMID:20673862, PMID:25085631 ; - oboInOwl:hasDbXref UMLS:C3150819 ; oboInOwl:hasExactSynonym "RP56", "retinitis pigmentosa 56" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3150819 ; biolink:category biolink:Disease . OMIM:613582 a owl:Class ; rdfs:label "retinitis pigmentosa 57" ; IAO:0000142 PMID:20655036 ; - oboInOwl:hasDbXref UMLS:C3150821 ; oboInOwl:hasExactSynonym "RP57", "retinitis pigmentosa 57" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3150821 ; biolink:category biolink:Disease . OMIM:613589 a owl:Class ; @@ -446773,19 +463471,19 @@ OMIM:613589 a owl:Class ; PMID:19198609, PMID:20686565, PMID:20686566 ; - oboInOwl:hasDbXref UMLS:C3150834 ; oboInOwl:hasExactSynonym "LDLCQ6", "low density lipoprotein cholesterol level quantitative trait locus 6" ; + skos:exactMatch UMLS:C3150834 ; biolink:category biolink:Disease . OMIM:613606 a owl:Class ; rdfs:label "forsythe-wakeling syndrome" ; IAO:0000142 PMID:19760648 ; RO:0002525 CHR:9606chr1p33-p31.1 ; - oboInOwl:hasDbXref UMLS:C3150859 ; oboInOwl:hasExactSynonym "FWS", "forsythe-wakeling syndrome", "microcephaly and growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia" ; + skos:exactMatch UMLS:C3150859 ; biolink:category biolink:Disease . OMIM:613608 a owl:Class ; @@ -446796,11 +463494,11 @@ OMIM:613608 a owl:Class ; PMID:20548044, PMID:29127138, PMID:31664039 ; - oboInOwl:hasDbXref UMLS:C3150860 ; oboInOwl:hasExactSynonym "FAME3", "cortical myoclonic tremor with epilepsy, familial, 3", "epilepsy, familial adult myoclonic, 3" ; rdfs:subClassOf OMIMPS:601068 ; + skos:exactMatch UMLS:C3150860 ; biolink:category biolink:Disease . OMIM:613611 a owl:Class ; @@ -446808,9 +463506,9 @@ OMIM:613611 a owl:Class ; IAO:0000142 PMID:1872518, PMID:20826270, PMID:7158640 ; - oboInOwl:hasDbXref UMLS:C3150875 ; oboInOwl:hasExactSynonym "CATLPH", "choanal atresia and lymphedema" ; + skos:exactMatch UMLS:C3150875 ; biolink:category biolink:Disease . OMIM:613612 a owl:Class ; @@ -446820,21 +463518,21 @@ OMIM:613612 a owl:Class ; PMID:23430875, PMID:31572517, PMID:32174980 ; - oboInOwl:hasDbXref UMLS:C3150876, - ORPHA:263487 ; oboInOwl:hasExactSynonym "CDG2I", "cdg iii", "congenital disorder of glycosylation, iia iii" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C3150876, + ORPHA:263487 ; biolink:category biolink:Disease . OMIM:613615 a owl:Class ; rdfs:label "senior-loken syndrome 7" ; IAO:0000142 PMID:20835237 ; - oboInOwl:hasDbXref UMLS:C3150877 ; oboInOwl:hasExactSynonym "SLSN7", "senior-loken syndrome 7" ; rdfs:subClassOf OMIMPS:266900 ; + skos:exactMatch UMLS:C3150877 ; biolink:category biolink:Disease . OMIM:613616 a owl:Class ; @@ -446844,22 +463542,22 @@ OMIM:613616 a owl:Class ; PMID:25972204, PMID:26340091, PMID:27561601 ; - oboInOwl:hasDbXref UMLS:C3150878, - ORPHA:416, - ORPHA:93600 ; oboInOwl:hasExactSynonym "HP3", "hyperoxaluria, primary, iia 3" ; rdfs:subClassOf OMIMPS:259900 ; + skos:exactMatch UMLS:C3150878, + ORPHA:416, + ORPHA:93600 ; biolink:category biolink:Disease . OMIM:613617 a owl:Class ; rdfs:label "retinitis pigmentosa 58" ; IAO:0000142 PMID:20227676, PMID:20797688 ; - oboInOwl:hasDbXref UMLS:C3150879 ; oboInOwl:hasExactSynonym "RP58", "retinitis pigmentosa 58" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3150879 ; biolink:category biolink:Disease . OMIM:613625 a owl:Class ; @@ -446868,29 +463566,29 @@ OMIM:613625 a owl:Class ; PMID:15333032, PMID:16304051, PMID:18391077 ; - oboInOwl:hasDbXref UMLS:C3150889 ; oboInOwl:hasExactSynonym "F5F8D2", "factor 5 and factor viii, combined deficiency of, 2" ; + skos:exactMatch UMLS:C3150889 ; biolink:category biolink:Disease . OMIM:613636 a owl:Class ; rdfs:label "tuberculin skin test reactivity, absence of" ; IAO:0000142 PMID:19901083 ; RO:0002525 CHR:9606chr11p14 ; - oboInOwl:hasDbXref UMLS:C3150892 ; oboInOwl:hasExactSynonym "tst reactivity, absence of", "tst1", "tuberculin skin test reactivity, absence of" ; + skos:exactMatch UMLS:C3150892 ; biolink:category biolink:Disease . OMIM:613637 a owl:Class ; rdfs:label "tuberculin skin test reactivity quantitative trait locus" ; IAO:0000142 PMID:19901083 ; RO:0002525 CHR:9606chr5p15 ; - oboInOwl:hasDbXref UMLS:C3150893 ; oboInOwl:hasExactSynonym "tst reactivity quantitative trait locus", "tst2", "tuberculin skin test reactivity quantitative trait locus" ; + skos:exactMatch UMLS:C3150893 ; biolink:category biolink:Disease . OMIM:613640 a owl:Class ; @@ -446904,32 +463602,32 @@ OMIM:613640 a owl:Class ; PMID:30866134, PMID:30955194, PMID:31509666 ; - oboInOwl:hasDbXref UMLS:C3150896 ; oboInOwl:hasExactSynonym "HSAN1C", "hsan 1c", "hsn 1c", "neuropathy, hereditary sensory and autonomic, iia 1c", "neuropathy, hereditary sensory, iia 1c" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C3150896 ; biolink:category biolink:Disease . OMIM:613643 a owl:Class ; rdfs:label "parkinson disease 5, autosomal dominant, susceptibility to" ; IAO:0000142 PMID:16450370, PMID:9774100 ; - oboInOwl:hasDbXref UMLS:C3150899 ; oboInOwl:hasExactSynonym "PARK5", "parkinson disease 5, autosomal dominant, susceptibility to" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C3150899 ; biolink:category biolink:Disease . OMIM:613646 a owl:Class ; rdfs:label "methylmalonic aciduria, transient, due to transcobalamin receptor defect" ; IAO:0000142 PMID:20524213, PMID:22819238 ; - oboInOwl:hasDbXref UMLS:C3150900 ; oboInOwl:hasExactSynonym "methylmalonic acidemia, tcblr iia", "methylmalonic aciduria, transient, due to transcobalamin receptor defect" ; + skos:exactMatch UMLS:C3150900 ; biolink:category biolink:Disease . OMIM:613647 a owl:Class ; @@ -446937,19 +463635,19 @@ OMIM:613647 a owl:Class ; IAO:0000142 PMID:20613862, PMID:24833714, PMID:26085577 ; - oboInOwl:hasDbXref UMLS:C3150901 ; oboInOwl:hasExactSynonym "SPG48", "spastic paraplegia 48, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3150901 ; biolink:category biolink:Disease . OMIM:613656 a owl:Class ; rdfs:label "migraine with or without aura, susceptibility to, 13" ; IAO:0000142 PMID:20871611 ; - oboInOwl:hasDbXref UMLS:C3150908 ; oboInOwl:hasExactSynonym "MGR13", "migraine with or without aura, susceptibility to, 13" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C3150908 ; biolink:category biolink:Disease . OMIM:613657 a owl:Class ; @@ -446957,23 +463655,23 @@ OMIM:613657 a owl:Class ; IAO:0000142 PMID:19228619, PMID:20171147, PMID:20847235 ; - oboInOwl:hasDbXref UMLS:C3150909 ; oboInOwl:hasExactSynonym "D2HGA2", "d-2-hydroxyglutaric aciduria 2" ; rdfs:subClassOf OMIMPS:600721 ; + skos:exactMatch UMLS:C3150909 ; biolink:category biolink:Disease . OMIM:613660 a owl:Class ; rdfs:label "cone-rod dystrophy 15" ; IAO:0000142 PMID:20087419, PMID:20805371 ; - oboInOwl:hasDbXref UMLS:C3150912, - UMLS:C3552852 ; oboInOwl:hasExactSynonym "CORD15", "cone-rod dystrophy 15", "retinitis pigmentosa 65" ; rdfs:subClassOf OMIMPS:120970, OMIMPS:268000 ; + skos:exactMatch UMLS:C3150912, + UMLS:C3552852 ; biolink:category biolink:Disease . OMIM:613661 a owl:Class ; @@ -446981,18 +463679,18 @@ OMIM:613661 a owl:Class ; IAO:0000142 PMID:20080937, PMID:22213132, PMID:30676690 ; - oboInOwl:hasDbXref UMLS:C3150913, - ORPHA:280071 ; oboInOwl:hasExactSynonym "CDG1P", "congenital disorder of glycosylation, iia ip" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C3150913, + ORPHA:280071 ; biolink:category biolink:Disease . OMIM:613668 a owl:Class ; rdfs:label "microcephaly, postnatal progressive, with seizures and brain atrophy" ; IAO:0000142 PMID:20950787 ; - oboInOwl:hasDbXref UMLS:C3150921 ; oboInOwl:hasExactSynonym "microcephaly, postnatal progressive, with seizures and brain atrophy" ; + skos:exactMatch UMLS:C3150921 ; biolink:category biolink:Disease . OMIM:613670 a owl:Class ; @@ -447003,36 +463701,36 @@ OMIM:613670 a owl:Class ; PMID:24214399, PMID:25131622, PMID:26647308 ; - oboInOwl:hasDbXref UMLS:C4013764 ; oboInOwl:hasExactSynonym "mental retardation with language impairment and with or without autistic features" ; + skos:exactMatch UMLS:C4013764 ; biolink:category biolink:Disease . OMIM:613671 a owl:Class ; rdfs:label "mental retardation, anterior maxillary protrusion, and strabismus" ; IAO:0000142 PMID:17618476, PMID:21035105 ; - oboInOwl:hasDbXref UMLS:C3150924 ; oboInOwl:hasExactSynonym "MRAMS", "mental retardation, anterior maxillary protrusion, and strabismus" ; + skos:exactMatch UMLS:C3150924 ; biolink:category biolink:Disease . OMIM:613672 a owl:Class ; rdfs:label "spastic ataxia 4, autosomal recessive" ; IAO:0000142 PMID:20970105, PMID:25008111 ; - oboInOwl:hasDbXref UMLS:C3150925 ; oboInOwl:hasExactSynonym "SPAX4", "spastic ataxia 4, autosomal recessive" ; rdfs:subClassOf OMIMPS:108600 ; + skos:exactMatch UMLS:C3150925 ; biolink:category biolink:Disease . OMIM:613674 a owl:Class ; rdfs:label "vesicoureteral reflux 3" ; IAO:0000142 PMID:20960469 ; - oboInOwl:hasDbXref UMLS:C3150927 ; oboInOwl:hasExactSynonym "VUR3", "vesicoureteral reflux 3" ; rdfs:subClassOf OMIMPS:193000 ; + skos:exactMatch UMLS:C3150927 ; biolink:category biolink:Disease . OMIM:613675 a owl:Class ; @@ -447068,14 +463766,14 @@ OMIM:613675 a owl:Class ; PMID:9643287, PMID:9654211 ; RO:0002525 CHR:9606chr17q11.2 ; - oboInOwl:hasDbXref UMLS:C3150928, - ORPHA:137634, - ORPHA:636, - ORPHA:97685 ; oboInOwl:hasExactSynonym "chromosome 17q11.2 deletion syndrome, 1.4-mb", "neurofibromatosis 1 microdeletion syndrome", "nf1 microdeletion syndrome", "van asperen syndrome" ; + skos:exactMatch UMLS:C3150928, + ORPHA:137634, + ORPHA:636, + ORPHA:97685 ; biolink:category biolink:Disease . OMIM:613680 a owl:Class ; @@ -447086,11 +463784,11 @@ OMIM:613680 a owl:Class ; PMID:27102954, PMID:30238602, PMID:30476144 ; - oboInOwl:hasDbXref UMLS:C3150939, - ORPHA:363444 ; oboInOwl:hasExactSynonym "BBIS", "beaulieu-boycott-innes syndrome", "microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations" ; + skos:exactMatch UMLS:C3150939, + ORPHA:363444 ; biolink:category biolink:Disease . OMIM:613684 a owl:Class ; @@ -447105,20 +463803,20 @@ OMIM:613684 a owl:Class ; PMID:20717166, PMID:24352918, PMID:27465822 ; - oboInOwl:hasDbXref UMLS:C3150941 ; oboInOwl:hasExactSynonym "RSTS2", "rubinstein-taybi syndrome 2" ; rdfs:subClassOf OMIMPS:180849 ; + skos:exactMatch UMLS:C3150941 ; biolink:category biolink:Disease . OMIM:613685 a owl:Class ; rdfs:label "deafness, autosomal recessive 83" ; IAO:0000142 PMID:19888295 ; RO:0002525 CHR:9606chr9p23-p21.2 ; - oboInOwl:hasDbXref UMLS:C3888310 ; oboInOwl:hasExactSynonym "DFNB83", "deafness, autosomal recessive 83" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3888310 ; biolink:category biolink:Disease . OMIM:613686 a owl:Class ; @@ -447126,10 +463824,10 @@ OMIM:613686 a owl:Class ; IAO:0000142 PMID:18775957, PMID:20087400, PMID:23897666 ; - oboInOwl:hasDbXref UMLS:C3150942 ; oboInOwl:hasExactSynonym "SCDO4", "spondylocostal dysostosis 4, autosomal recessive" ; rdfs:subClassOf OMIMPS:277300 ; + skos:exactMatch UMLS:C3150942 ; biolink:category biolink:Disease . OMIM:613689 a owl:Class ; @@ -447137,10 +463835,10 @@ OMIM:613689 a owl:Class ; IAO:0000142 PMID:15261644, PMID:20145678 ; RO:0002525 CHR:9606chr22q12.3-q13.1 ; - oboInOwl:hasDbXref UMLS:C3150946, - ORPHA:238744 ; oboInOwl:hasExactSynonym "MDNS", "mammary-digital-nail syndrome" ; + skos:exactMatch UMLS:C3150946, + ORPHA:238744 ; biolink:category biolink:Disease . OMIM:613690 a owl:Class ; @@ -447148,10 +463846,10 @@ OMIM:613690 a owl:Class ; IAO:0000142 PMID:11815426, PMID:16267253, PMID:9241277 ; - oboInOwl:hasDbXref UMLS:C1860752 ; oboInOwl:hasExactSynonym "CMH7", "cardiomyopathy, familial hypertrophic, 7" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C1860752 ; biolink:category biolink:Disease . OMIM:613693 a owl:Class ; @@ -447161,14 +463859,14 @@ OMIM:613693 a owl:Class ; PMID:10973849, PMID:15840476, PMID:16922724 ; - oboInOwl:hasDbXref UMLS:C3150953, - UMLS:C3150954, - UMLS:C3276241 ; oboInOwl:hasExactSynonym "LQT6", "long qt syndrome 3/6, digenic", "long qt syndrome 6", "long qt syndrome 6, acquired, susceptibility to" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C3150953, + UMLS:C3150954, + UMLS:C3276241 ; biolink:category biolink:Disease . OMIM:613695 a owl:Class ; @@ -447180,63 +463878,63 @@ OMIM:613695 a owl:Class ; PMID:15840476, PMID:16922724, PMID:9354802 ; - oboInOwl:hasDbXref UMLS:C1867904, - UMLS:C3150956, - UMLS:C3279092 ; oboInOwl:hasExactSynonym "LQT5", "long qt syndrome 2/5, digenic", "long qt syndrome 5", "long qt syndrome 5, acquired, susceptibility to" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C1867904, + UMLS:C3150956, + UMLS:C3279092 ; biolink:category biolink:Disease . OMIM:613697 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1v" ; IAO:0000142 PMID:14623725, PMID:17186461 ; - oboInOwl:hasDbXref UMLS:C3150958 ; oboInOwl:hasExactSynonym "CMD1V", "cardiomyopathy, dilated, 1v" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C3150958 ; biolink:category biolink:Disease . OMIM:613703 a owl:Class ; rdfs:label "microphthalmia, isolated, with coloboma 6" ; IAO:0000142 PMID:19864492 ; - oboInOwl:hasDbXref UMLS:C3150968 ; oboInOwl:hasExactSynonym "MCOPCB6", "microphthalmia, isolated, with coloboma 6" ; rdfs:subClassOf OMIMPS:300345 ; + skos:exactMatch UMLS:C3150968 ; biolink:category biolink:Disease . OMIM:613705 a owl:Class ; rdfs:label "orofacial cleft 10" ; IAO:0000142 PMID:16990542 ; - oboInOwl:hasDbXref UMLS:C1866070 ; oboInOwl:hasExactSynonym "OFC10", "cleft 51p with or without cleft palate, nonsyndromic, 10", "orofacial cleft 10" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C1866070 ; biolink:category biolink:Disease . OMIM:613706 a owl:Class ; rdfs:label "noonan syndrome 7" ; IAO:0000142 PMID:19206169 ; - oboInOwl:hasDbXref UMLS:C3150970 ; oboInOwl:hasExactSynonym "NS7", "noonan syndrome 7" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C3150970 ; biolink:category biolink:Disease . OMIM:613710 a owl:Class ; rdfs:label "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" ; IAO:0000142 PMID:19798730 ; - oboInOwl:hasDbXref UMLS:C3150973 ; oboInOwl:hasExactSynonym "THMD4", "bilateral striatal degeneration and progressive polyneuropathy", "striatal necrosis, bilateral, and progressive polyneuropathy", "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" ; rdfs:subClassOf OMIMPS:249270 ; + skos:exactMatch UMLS:C3150973 ; biolink:category biolink:Disease . OMIM:613711 a owl:Class ; @@ -447248,10 +463946,10 @@ OMIM:613711 a owl:Class ; PMID:8896569, PMID:8968758, PMID:9359036 ; - oboInOwl:hasDbXref UMLS:C3150974 ; oboInOwl:hasExactSynonym "HSCR3", "hirschsprung disease, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:142623 ; + skos:exactMatch UMLS:C3150974 ; biolink:category biolink:Disease . OMIM:613712 a owl:Class ; @@ -447260,10 +463958,10 @@ OMIM:613712 a owl:Class ; PMID:17965226, PMID:20009762, PMID:9359047 ; - oboInOwl:hasDbXref UMLS:C3150975 ; oboInOwl:hasExactSynonym "HSCR4", "hirschsprung disease, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:142623 ; + skos:exactMatch UMLS:C3150975 ; biolink:category biolink:Disease . OMIM:613717 a owl:Class ; @@ -447271,72 +463969,72 @@ OMIM:613717 a owl:Class ; IAO:0000142 PMID:21131976, PMID:24603435, PMID:25790162 ; - oboInOwl:hasDbXref UMLS:C3150983 ; oboInOwl:hasExactSynonym "TCS2", "treacher collins syndrome 2" ; rdfs:subClassOf OMIMPS:154500 ; + skos:exactMatch UMLS:C3150983 ; biolink:category biolink:Disease . OMIM:613718 a owl:Class ; rdfs:label "deafness, autosomal recessive 74" ; IAO:0000142 PMID:19650862, PMID:21185009 ; - oboInOwl:hasDbXref UMLS:C2239351 ; oboInOwl:hasExactSynonym "DFNB74", "deafness, autosomal recessive 74" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C2239351 ; biolink:category biolink:Disease . OMIM:613722 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 12" ; IAO:0000142 PMID:20833646, PMID:22690784 ; - oboInOwl:hasDbXref UMLS:C3150988, - ORPHA:293181, - ORPHA:3451 ; oboInOwl:hasExactSynonym "DEE12", "developmental and epileptic encephalopathy 12", "epileptic encephalopathy, early infantile, 12" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3150988, + ORPHA:293181, + ORPHA:3451 ; biolink:category biolink:Disease . OMIM:613723 a owl:Class ; rdfs:label "muscular dystrophy, limb-girdle, autosomal recessive 17" ; IAO:0000142 PMID:21109228, PMID:30055862 ; - oboInOwl:hasDbXref UMLS:C3150989 ; oboInOwl:hasExactSynonym "LGMDR17", "muscular dystrophy, limb-girdle, iia 2q", "muscular dystrophy, limb-girdle, autosomal recessive 17" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C3150989 ; biolink:category biolink:Disease . OMIM:613724 a owl:Class ; rdfs:label "leukoencephalopathy with dystonia and motor neuropathy" ; IAO:0000142 PMID:16685654 ; - oboInOwl:hasDbXref UMLS:C3150990 ; oboInOwl:hasExactSynonym "LKDMN", "leukoencephalopathy with dystonia and motor neuropathy", "sterol carrier protein 2 deficiency" ; + skos:exactMatch UMLS:C3150990 ; biolink:category biolink:Disease . OMIM:613728 a owl:Class ; rdfs:label "spinocerebellar ataxia, autosomal recessive 10" ; IAO:0000142 PMID:21092923, PMID:25182700 ; - oboInOwl:hasDbXref UMLS:C3150998 ; oboInOwl:hasExactSynonym "SCAR10", "spinocerebellar ataxia, autosomal recessive 10" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C3150998 ; biolink:category biolink:Disease . OMIM:613730 a owl:Class ; rdfs:label "hemorrhagic destruction of the brain, subependymal calcification, and cataracts" ; IAO:0000142 PMID:21109224, PMID:23255084 ; - oboInOwl:hasDbXref UMLS:C3151000 ; oboInOwl:hasExactSynonym "HDBSCC", "hemorrhagic destruction of the brain, subependymal calcification, and cataracts" ; + skos:exactMatch UMLS:C3151000 ; biolink:category biolink:Disease . OMIM:613735 a owl:Class ; @@ -447351,11 +464049,11 @@ OMIM:613735 a owl:Class ; PMID:26997977, PMID:27081522, PMID:28452798 ; - oboInOwl:hasDbXref UMLS:C3151036, - UMLS:C4478940 ; oboInOwl:hasExactSynonym "BRMUTD", "brain malformations with or without urinary tract defects", "chromosome 1p32-p31 deletion syndrome" ; + skos:exactMatch UMLS:C3151036, + UMLS:C4478940 ; biolink:category biolink:Disease . OMIM:613736 a owl:Class ; @@ -447365,10 +464063,10 @@ OMIM:613736 a owl:Class ; PMID:27900998, PMID:28287404, PMID:28601418 ; - oboInOwl:hasDbXref UMLS:C3151037 ; oboInOwl:hasExactSynonym "ACNINV2", "acne inversa, familial, 2, with or without dowling-degos disease" ; rdfs:subClassOf OMIMPS:142690 ; + skos:exactMatch UMLS:C3151037 ; biolink:category biolink:Disease . OMIM:613743 a owl:Class ; @@ -447381,9 +464079,9 @@ OMIM:613743 a owl:Class ; PMID:19116240, PMID:21159840, PMID:7682938 ; - oboInOwl:hasDbXref UMLS:C3151055 ; oboInOwl:hasExactSynonym "adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete", "p450scc deficiency" ; + skos:exactMatch UMLS:C3151055 ; biolink:category biolink:Disease . OMIM:613750 a owl:Class ; @@ -447394,12 +464092,12 @@ OMIM:613750 a owl:Class ; PMID:12796249, PMID:15591106, PMID:21981118 ; - oboInOwl:hasDbXref UMLS:C1834329, - UMLS:C1834330 ; oboInOwl:hasExactSynonym "RP27", "retinal degeneration, autosomal recessive, clumped pigment iia", "retinitis pigmentosa 27" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1834329, + UMLS:C1834330 ; biolink:category biolink:Disease . OMIM:613751 a owl:Class ; @@ -447407,57 +464105,57 @@ OMIM:613751 a owl:Class ; IAO:0000142 PMID:9242489, PMID:9354777, PMID:9916847 ; - oboInOwl:hasDbXref UMLS:C3151057, - ORPHA:450 ; oboInOwl:hasExactSynonym "HTX4", "heterotaxy, visceral, 4, autosomal" ; rdfs:subClassOf OMIMPS:306955 ; + skos:exactMatch UMLS:C3151057, + ORPHA:450 ; biolink:category biolink:Disease . OMIM:613752 a owl:Class ; rdfs:label "hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency" ; IAO:0000142 PMID:15024124, PMID:2380820 ; - oboInOwl:hasDbXref UMLS:C3151058 ; oboInOwl:hasExactSynonym "hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency" ; + skos:exactMatch UMLS:C3151058 ; biolink:category biolink:Disease . OMIM:613756 a owl:Class ; rdfs:label "retinitis pigmentosa 49" ; IAO:0000142 PMID:7479749 ; - oboInOwl:hasDbXref UMLS:C3151059 ; oboInOwl:hasExactSynonym "RP49", "retinitis pigmentosa 49" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151059 ; biolink:category biolink:Disease . OMIM:613758 a owl:Class ; rdfs:label "retinitis pigmentosa 47" ; IAO:0000142 PMID:9565049 ; - oboInOwl:hasDbXref UMLS:C3151061 ; oboInOwl:hasExactSynonym "RP47", "retinitis pigmentosa 47" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151061 ; biolink:category biolink:Disease . OMIM:613759 a owl:Class ; rdfs:label "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" ; IAO:0000142 PMID:21109225 ; - oboInOwl:hasDbXref UMLS:C3151062 ; oboInOwl:hasExactSynonym "IMD90", "fadd deficiency", "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction", "infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3151062 ; biolink:category biolink:Disease . OMIM:613761 a owl:Class ; rdfs:label "macular degeneration, age-related, 5" ; IAO:0000142 PMID:16754848 ; - oboInOwl:hasDbXref UMLS:C3151063 ; oboInOwl:hasExactSynonym "ARMD5", "macular degeneration, age-related, 5" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C3151063 ; biolink:category biolink:Disease . OMIM:613762 a owl:Class ; @@ -447469,12 +464167,12 @@ OMIM:613762 a owl:Class ; PMID:4295620, PMID:4473892, PMID:5419329 ; - oboInOwl:hasDbXref UMLS:C3151064 ; oboInOwl:hasExactSynonym "46,xy gonadal dysgenesis, partial or complete, map3k1-related", "46,xy sex reversal 6", "46,xy sex reversal, partial or complete, map3k1-related", "SRXY6" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C3151064 ; biolink:category biolink:Disease . OMIM:613767 a owl:Class ; @@ -447482,20 +464180,20 @@ OMIM:613767 a owl:Class ; IAO:0000142 PMID:11379879, PMID:15557452, PMID:23661369 ; - oboInOwl:hasDbXref UMLS:C3151066 ; oboInOwl:hasExactSynonym "RP45", "retinitis pigmentosa 45" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151066 ; biolink:category biolink:Disease . OMIM:613769 a owl:Class ; rdfs:label "retinitis pigmentosa 44" ; IAO:0000142 PMID:10581022, PMID:21067480 ; - oboInOwl:hasDbXref UMLS:C3151068 ; oboInOwl:hasExactSynonym "RP44", "retinitis pigmentosa 44" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151068 ; biolink:category biolink:Disease . OMIM:613778 a owl:Class ; @@ -447512,10 +464210,10 @@ OMIM:613778 a owl:Class ; PMID:18535016, PMID:21909106, PMID:23455636 ; - oboInOwl:hasDbXref UMLS:C3151070 ; oboInOwl:hasExactSynonym "ARMD8", "macular degeneration, age-related, 8" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C3151070 ; biolink:category biolink:Disease . OMIM:613789 a owl:Class ; @@ -447528,13 +464226,13 @@ OMIM:613789 a owl:Class ; PMID:7594510, PMID:7980680, PMID:8098723 ; - oboInOwl:hasDbXref UMLS:C3151080 ; oboInOwl:hasExactSynonym "C8D2", "c8 beta deficiency", "c8 deficiency, iia 2", "c8b deficiency", "complement component 8 deficiency, iia 2", "complement component 8b deficiency" ; + skos:exactMatch UMLS:C3151080 ; biolink:category biolink:Disease . OMIM:613790 a owl:Class ; @@ -447548,12 +464246,12 @@ OMIM:613790 a owl:Class ; PMID:815273, PMID:893674, PMID:9759902 ; - oboInOwl:hasDbXref UMLS:C3151081 ; oboInOwl:hasExactSynonym "C8D1", "c8 alpha-gamma deficiency", "c8 deficiency, iia 1", "c8ag deficiency", "complement component 8 deficiency, iia 1" ; + skos:exactMatch UMLS:C3151081 ; biolink:category biolink:Disease . OMIM:613791 a owl:Class ; @@ -447562,10 +464260,10 @@ OMIM:613791 a owl:Class ; PMID:17252003, PMID:19307021, PMID:24658431 ; - oboInOwl:hasDbXref UMLS:C3151085 ; oboInOwl:hasExactSynonym "lectin complement activation pathway, defect in, 2", "masp2 deficiency" ; rdfs:subClassOf OMIMPS:614372 ; + skos:exactMatch UMLS:C3151085 ; biolink:category biolink:Disease . OMIM:613793 a owl:Class ; @@ -447581,10 +464279,10 @@ OMIM:613793 a owl:Class ; PMID:7519480, PMID:8837357, PMID:9427725 ; - oboInOwl:hasDbXref UMLS:C1292305 ; oboInOwl:hasExactSynonym "CROM", "blood group, cromer system", "cromer blood group system" ; + skos:exactMatch UMLS:C1292305 ; biolink:category biolink:Disease . OMIM:613795 a owl:Class ; @@ -447593,13 +464291,13 @@ OMIM:613795 a owl:Class ; PMID:21778426, PMID:21815248, PMID:22167769 ; - oboInOwl:hasDbXref UMLS:C3151087 ; oboInOwl:hasExactSynonym "LDS3", "aneurysms-osteoarthritis syndrome", "loeys-dietz syndrome 3", "loeys-dietz syndrome with osteoarthritis", "loeys-dietz syndrome, iia 1c, formerly" ; rdfs:subClassOf OMIMPS:609192 ; + skos:exactMatch UMLS:C3151087 ; biolink:category biolink:Disease . OMIM:613800 a owl:Class ; @@ -447607,10 +464305,10 @@ OMIM:613800 a owl:Class ; IAO:0000142 PMID:11477602, PMID:21358631, PMID:21358632 ; - oboInOwl:hasDbXref UMLS:C3151097 ; oboInOwl:hasExactSynonym "MGORS2", "meier-gorlin syndrome 2" ; rdfs:subClassOf OMIMPS:224690 ; + skos:exactMatch UMLS:C3151097 ; biolink:category biolink:Disease . OMIM:613801 a owl:Class ; @@ -447619,10 +464317,10 @@ OMIM:613801 a owl:Class ; PMID:18854872, PMID:7599633, PMID:8394174 ; - oboInOwl:hasDbXref UMLS:C3151107 ; oboInOwl:hasExactSynonym "RP40", "retinitis pigmentosa 40" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151107 ; biolink:category biolink:Disease . OMIM:613803 a owl:Class ; @@ -447632,10 +464330,10 @@ OMIM:613803 a owl:Class ; PMID:22333897, PMID:25691413, PMID:7710253 ; - oboInOwl:hasDbXref UMLS:C3151113 ; oboInOwl:hasExactSynonym "MGORS3", "meier-gorlin syndrome 3" ; rdfs:subClassOf OMIMPS:224690 ; + skos:exactMatch UMLS:C3151113 ; biolink:category biolink:Disease . OMIM:613804 a owl:Class ; @@ -447644,20 +464342,20 @@ OMIM:613804 a owl:Class ; PMID:11992493, PMID:21358631, PMID:21358632 ; - oboInOwl:hasDbXref UMLS:C3151120 ; oboInOwl:hasExactSynonym "MGORS4", "meier-gorlin syndrome 4" ; rdfs:subClassOf OMIMPS:224690 ; + skos:exactMatch UMLS:C3151120 ; biolink:category biolink:Disease . OMIM:613805 a owl:Class ; rdfs:label "meier-gorlin syndrome 5" ; IAO:0000142 PMID:11477602, PMID:21358632 ; - oboInOwl:hasDbXref UMLS:C3151126 ; oboInOwl:hasExactSynonym "MGORS5", "meier-gorlin syndrome 5" ; rdfs:subClassOf OMIMPS:224690 ; + skos:exactMatch UMLS:C3151126 ; biolink:category biolink:Disease . OMIM:613806 a owl:Class ; @@ -447669,9 +464367,9 @@ OMIM:613806 a owl:Class ; PMID:21151127, PMID:7877651 ; RO:0002525 CHR:9606chr3p21 ; - oboInOwl:hasDbXref UMLS:C0566602 ; oboInOwl:hasExactSynonym "PSC", "cholangitis, primary sclerosing" ; + skos:exactMatch UMLS:C0566602 ; biolink:category biolink:Disease . OMIM:613807 a owl:Class ; @@ -447680,11 +464378,11 @@ OMIM:613807 a owl:Class ; PMID:21131974, PMID:23255504, PMID:28552195 ; - oboInOwl:hasDbXref UMLS:C3151136 ; oboInOwl:hasExactSynonym "CILD14", "ciliary dyskinesia, primary, 14", "ciliary dyskinesia, primary, 14, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3151136 ; biolink:category biolink:Disease . OMIM:613808 a owl:Class ; @@ -447692,11 +464390,11 @@ OMIM:613808 a owl:Class ; IAO:0000142 PMID:21131972, PMID:21131974, PMID:23255504 ; - oboInOwl:hasDbXref UMLS:C3151137 ; oboInOwl:hasExactSynonym "CILD15", "ciliary dyskinesia, primary, 15", "ciliary dyskinesia, primary, 15, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3151137 ; biolink:category biolink:Disease . OMIM:613810 a owl:Class ; @@ -447704,10 +464402,10 @@ OMIM:613810 a owl:Class ; IAO:0000142 PMID:18849587, PMID:21039428, PMID:7493036 ; - oboInOwl:hasDbXref UMLS:C3151139 ; oboInOwl:hasExactSynonym "RP43", "retinitis pigmentosa 43" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151139 ; biolink:category biolink:Disease . OMIM:613811 a owl:Class ; @@ -447715,11 +464413,11 @@ OMIM:613811 a owl:Class ; IAO:0000142 PMID:12920088, PMID:20920667, PMID:25044680 ; - oboInOwl:hasDbXref UMLS:C3151140 ; oboInOwl:hasExactSynonym "PCH2D", "cerebellocerebral atrophy, progressive", "pontocerebellar hypoplasia, iia 2d" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C3151140 ; biolink:category biolink:Disease . OMIM:613818 a owl:Class ; @@ -447728,7 +464426,6 @@ OMIM:613818 a owl:Class ; PMID:21388311, PMID:23121053, PMID:25503980 ; - oboInOwl:hasDbXref UMLS:C3151184 ; oboInOwl:hasExactSynonym "MDDGC9", "muscular dystrophy, limb-girdle, iia 2p", "muscular dystrophy, limb-girdle, autosomal recessive 16", @@ -447736,6 +464433,7 @@ OMIM:613818 a owl:Class ; "muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related" ; rdfs:subClassOf OMIMPS:253600, OMIMPS:609308 ; + skos:exactMatch UMLS:C3151184 ; biolink:category biolink:Disease . OMIM:613819 a owl:Class ; @@ -447744,21 +464442,21 @@ OMIM:613819 a owl:Class ; PMID:22791528, PMID:24183451, PMID:25492405 ; - oboInOwl:hasDbXref UMLS:C3151185 ; oboInOwl:hasExactSynonym "SRTD4", "asphyxiating thoracic dystrophy 4", "short-rib thoracic dysplasia 4 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C3151185 ; biolink:category biolink:Disease . OMIM:613823 a owl:Class ; rdfs:label "seckel syndrome 5" ; IAO:0000142 PMID:21131973 ; - oboInOwl:hasDbXref UMLS:C3151187, - ORPHA:808 ; oboInOwl:hasExactSynonym "SCKL5", "seckel syndrome 5" ; rdfs:subClassOf OMIMPS:210600 ; + skos:exactMatch UMLS:C3151187, + ORPHA:808 ; biolink:category biolink:Disease . OMIM:613826 a owl:Class ; @@ -447768,31 +464466,31 @@ OMIM:613826 a owl:Class ; PMID:16123399, PMID:20006823, PMID:24997176 ; - oboInOwl:hasDbXref UMLS:C1854260 ; oboInOwl:hasExactSynonym "LCA6", "leber congenital amaurosis 6" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C1854260 ; biolink:category biolink:Disease . OMIM:613827 a owl:Class ; rdfs:label "retinitis pigmentosa 48" ; IAO:0000142 PMID:15452722, PMID:26161267 ; - oboInOwl:hasDbXref UMLS:C3151190 ; oboInOwl:hasExactSynonym "RP48", "retinitis pigmentosa 48" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151190 ; biolink:category biolink:Disease . OMIM:613828 a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus, iia 8" ; IAO:0000142 PMID:19841378 ; RO:0002525 CHR:9606chr6q16.3-q22.31 ; - oboInOwl:hasDbXref UMLS:C3151191 ; oboInOwl:hasExactSynonym "GEFSP8", "gefs+, iia 8", "generalized epilepsy with febrile seizures plus, iia 8" ; rdfs:subClassOf OMIMPS:604233 ; + skos:exactMatch UMLS:C3151191 ; biolink:category biolink:Disease . OMIM:613829 a owl:Class ; @@ -447803,21 +464501,21 @@ OMIM:613829 a owl:Class ; PMID:9390562, PMID:9537410, PMID:9931337 ; - oboInOwl:hasDbXref UMLS:C3151192 ; oboInOwl:hasExactSynonym "LCA7", "leber congenital amaurosis 7" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C3151192 ; biolink:category biolink:Disease . OMIM:613830 a owl:Class ; rdfs:label "night blindness, congenital stationary, iia 1d" ; IAO:0000142 PMID:20850105, PMID:26822852 ; - oboInOwl:hasDbXref UMLS:C3151193 ; oboInOwl:hasExactSynonym "CSNB1D", "csnb, complete, autosomal recessive", "night blindness, congenital stationary, iia 1d" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C3151193 ; biolink:category biolink:Disease . OMIM:613834 a owl:Class ; @@ -447829,30 +464527,30 @@ OMIM:613834 a owl:Class ; PMID:24998021, PMID:27481187, PMID:29300374 ; - oboInOwl:hasDbXref UMLS:C3151201, - ORPHA:404463 ; oboInOwl:hasExactSynonym "MSMDS", "multisystemic smooth muscle dysfunction syndrome", "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" ; + skos:exactMatch UMLS:C3151201, + ORPHA:404463 ; biolink:category biolink:Disease . OMIM:613836 a owl:Class ; rdfs:label "adiponectin, serum level of, quantitative trait locus 5" ; IAO:0000142 PMID:20887962 ; RO:0002525 CHR:9606chr16q23.3 ; - oboInOwl:hasDbXref UMLS:C3151203 ; oboInOwl:hasExactSynonym "ADIPQTL5", "adiponectin, serum level of, quantitative trait locus 5" ; + skos:exactMatch UMLS:C3151203 ; biolink:category biolink:Disease . OMIM:613838 a owl:Class ; rdfs:label "cardiomyopathy, familial hypertrophic, 16" ; IAO:0000142 PMID:17347475, PMID:22987565 ; - oboInOwl:hasDbXref UMLS:C3151204 ; oboInOwl:hasExactSynonym "CMH16", "cardiomyopathy, familial hypertrophic, 16" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C3151204 ; biolink:category biolink:Disease . OMIM:613839 a owl:Class ; @@ -447862,20 +464560,20 @@ OMIM:613839 a owl:Class ; PMID:21310276, PMID:21310277, PMID:6700662 ; - oboInOwl:hasDbXref UMLS:C3151205 ; oboInOwl:hasExactSynonym "dhfr deficiency", "megaloblastic anemia due to dihydrofolate reductase deficiency" ; + skos:exactMatch UMLS:C3151205 ; biolink:category biolink:Disease . OMIM:613845 a owl:Class ; rdfs:label "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" ; IAO:0000142 PMID:21255763, PMID:24034276 ; - oboInOwl:hasDbXref UMLS:C3151209, - ORPHA:363694 ; oboInOwl:hasExactSynonym "HUPRAS", "hupra syndrome", "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" ; + skos:exactMatch UMLS:C3151209, + ORPHA:363694 ; biolink:category biolink:Disease . OMIM:613849 a owl:Class ; @@ -447883,11 +464581,11 @@ OMIM:613849 a owl:Class ; IAO:0000142 PMID:11792318, PMID:20579626, PMID:29382611 ; - oboInOwl:hasDbXref UMLS:C3151433 ; oboInOwl:hasExactSynonym "OI12", "oi, iia 12", "osteogenesis imperfecta, iia 12" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C3151433 ; biolink:category biolink:Disease . OMIM:613850 a owl:Class ; @@ -447896,25 +464594,25 @@ OMIM:613850 a owl:Class ; PMID:12384777, PMID:170291, PMID:4376397 ; - oboInOwl:hasDbXref UMLS:C0342800 ; oboInOwl:hasExactSynonym "inosine triphosphatase deficiency", "inosine triphosphate pyrophosphohydrolase deficiency" ; + skos:exactMatch UMLS:C0342800 ; biolink:category biolink:Disease . OMIM:613852 a owl:Class ; rdfs:label "fucosyltransferase 6 deficiency" ; IAO:0000142 PMID:8175676 ; - oboInOwl:hasDbXref UMLS:C3151219 ; oboInOwl:hasExactSynonym "fucosyltransferase 6 deficiency" ; + skos:exactMatch UMLS:C3151219 ; biolink:category biolink:Disease . OMIM:613856 a owl:Class ; rdfs:label "achromatopsia 4" ; IAO:0000142 PMID:12077706, PMID:12205108 ; - oboInOwl:hasDbXref UMLS:C1841721 ; oboInOwl:hasExactSynonym "ACHM4", "achromatopsia 4" ; + skos:exactMatch UMLS:C1841721 ; biolink:category biolink:Disease . OMIM:613857 a owl:Class ; @@ -447922,10 +464620,10 @@ OMIM:613857 a owl:Class ; IAO:0000142 PMID:21295280, PMID:24363063 ; RO:0002525 CHR:9606chr1p33 ; - oboInOwl:hasDbXref UMLS:C3151222 ; oboInOwl:hasExactSynonym "OFC13", "orofacial cleft 13" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C3151222 ; biolink:category biolink:Disease . OMIM:613860 a owl:Class ; @@ -447934,11 +464632,11 @@ OMIM:613860 a owl:Class ; PMID:20971976, PMID:22226667, PMID:25662573 ; - oboInOwl:hasDbXref UMLS:C3151226 ; oboInOwl:hasExactSynonym "fcn3 deficiency", "ficolin 3 deficiency", "lectin complement activation pathway, defect in, 3" ; rdfs:subClassOf OMIMPS:614372 ; + skos:exactMatch UMLS:C3151226 ; biolink:category biolink:Disease . OMIM:613861 a owl:Class ; @@ -447948,13 +464646,13 @@ OMIM:613861 a owl:Class ; PMID:24078709, PMID:24664694, PMID:27343064 ; - oboInOwl:hasDbXref UMLS:C3151227, - UMLS:C4693133 ; oboInOwl:hasExactSynonym "RP59", "congenital disorder of glycosylation, iia ibb", "retinitis pigmentosa 59" ; rdfs:subClassOf OMIMPS:212065, OMIMPS:268000 ; + skos:exactMatch UMLS:C3151227, + UMLS:C4693133 ; biolink:category biolink:Disease . OMIM:613862 a owl:Class ; @@ -447965,11 +464663,11 @@ OMIM:613862 a owl:Class ; PMID:20300561, PMID:21677792, PMID:22180149 ; - oboInOwl:hasDbXref UMLS:C3151228 ; oboInOwl:hasExactSynonym "RP38", "retinitis pigmentosa 38", "rod-cone dystrophy, childhood-onset" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151228 ; biolink:category biolink:Disease . OMIM:613863 a owl:Class ; @@ -447981,14 +464679,14 @@ OMIM:613863 a owl:Class ; PMID:33216760, PMID:9894880 ; RO:0002525 CHR:9606chr2q23-q24 ; - oboInOwl:hasDbXref UMLS:C2751778, - UMLS:C3151229 ; oboInOwl:hasExactSynonym "GEFSP7", "febrile seizures, familial, 3b", "gefs+, iia 7", "generalized epilepsy with febrile seizures plus, iia 7" ; rdfs:subClassOf OMIMPS:121210, OMIMPS:604233 ; + skos:exactMatch UMLS:C2751778, + UMLS:C3151229 ; biolink:category biolink:Disease . OMIM:613865 a owl:Class ; @@ -447996,30 +464694,30 @@ OMIM:613865 a owl:Class ; IAO:0000142 PMID:12719379, PMID:24164807, PMID:25262649 ; - oboInOwl:hasDbXref UMLS:C3151230 ; oboInOwl:hasExactSynonym "DFNB61", "deafness, autosomal recessive 61" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3151230 ; biolink:category biolink:Disease . OMIM:613869 a owl:Class ; rdfs:label "myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related" ; IAO:0000142 PMID:21337604, PMID:8000975 ; - oboInOwl:hasDbXref UMLS:C3151236 ; oboInOwl:hasExactSynonym "mfm, fatal infantile hypertonic, alpha-b crystallin-related", "myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C3151236 ; biolink:category biolink:Disease . OMIM:613873 a owl:Class ; rdfs:label "cardiomyopathy, familial hypertrophic, 17" ; IAO:0000142 PMID:17476457, PMID:17509612 ; - oboInOwl:hasDbXref UMLS:C3151264 ; oboInOwl:hasExactSynonym "CMH17", "cardiomyopathy, familial hypertrophic, 17" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C3151264 ; biolink:category biolink:Disease . OMIM:613874 a owl:Class ; @@ -448030,29 +464728,29 @@ OMIM:613874 a owl:Class ; PMID:17655857, PMID:21167350, PMID:21332051 ; - oboInOwl:hasDbXref UMLS:C3151265 ; oboInOwl:hasExactSynonym "CMH18", "cardiomyopathy, familial hypertrophic, 18" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C3151265 ; biolink:category biolink:Disease . OMIM:613876 a owl:Class ; rdfs:label "cardiomyopathy, familial hypertrophic, 20" ; IAO:0000142 PMID:20970104 ; - oboInOwl:hasDbXref UMLS:C3151267 ; oboInOwl:hasExactSynonym "CMH20", "cardiomyopathy, familial hypertrophic, 20" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C3151267 ; biolink:category biolink:Disease . OMIM:613877 a owl:Class ; rdfs:label "lipodystrophy, familial partial, iia 4" ; IAO:0000142 PMID:21345103 ; - oboInOwl:hasDbXref UMLS:C3151268 ; oboInOwl:hasExactSynonym "FPLD4", "lipodystrophy, familial partial, iia 4", "lipodystrophy, familial partial, associated with plin1 mutations" ; rdfs:subClassOf OMIMPS:151660 ; + skos:exactMatch UMLS:C3151268 ; biolink:category biolink:Disease . OMIM:613878 a owl:Class ; @@ -448104,13 +464802,14 @@ OMIM:613878 a owl:Class ; PMID:9716591 ; RO:0002525 CHR:9606chr13q34 ; RO:0003303 OMIM:608446 ; - oboInOwl:hasDbXref UMLS:C1333523 ; oboInOwl:hasExactSynonym "F7", "coagulation factor 7", "factor 7" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2155 ; - skos:exactMatch HGNC_symbol:F7 ; + skos:exactMatch UMLS:C1333523, + HGNC:3544, + HGNC_symbol:F7 ; biolink:category biolink:Gene . OMIM:613886 a owl:Class ; @@ -448119,20 +464818,20 @@ OMIM:613886 a owl:Class ; PMID:15494731, PMID:27884935, PMID:29100083 ; - oboInOwl:hasDbXref UMLS:C3151303 ; oboInOwl:hasExactSynonym "OBHD", "obesity, hyperphagia, and developmental delay" ; + skos:exactMatch UMLS:C3151303 ; biolink:category biolink:Disease . OMIM:613887 a owl:Class ; rdfs:label "cataract 36" ; IAO:0000142 PMID:21436445, PMID:28418495 ; - oboInOwl:hasDbXref UMLS:C3151304 ; oboInOwl:hasExactSynonym "CTRCT36", "cataract 36", "cataract, autosomal recessive congenital 4" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3151304 ; biolink:category biolink:Disease . OMIM:613908 a owl:Class ; @@ -448140,10 +464839,10 @@ OMIM:613908 a owl:Class ; IAO:0000142 PMID:21106500, PMID:22554020, PMID:25253745 ; - oboInOwl:hasDbXref UMLS:C3888031 ; oboInOwl:hasExactSynonym "SCA35", "spinocerebellar ataxia 35" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C3888031 ; biolink:category biolink:Disease . OMIM:613912 a owl:Class ; @@ -448152,41 +464851,41 @@ OMIM:613912 a owl:Class ; PMID:16527897, PMID:2687330, PMID:6568950 ; - oboInOwl:hasDbXref UMLS:C0398764 ; oboInOwl:hasExactSynonym "CFDD", "complement factor d deficiency", "factor d deficiency" ; + skos:exactMatch UMLS:C0398764 ; biolink:category biolink:Disease . OMIM:613926 a owl:Class ; rdfs:label "megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation" ; IAO:0000142 PMID:20517947, PMID:21419380 ; - oboInOwl:hasDbXref UMLS:C3151356 ; oboInOwl:hasExactSynonym "MLC2B", "megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation" ; rdfs:subClassOf OMIMPS:604004 ; + skos:exactMatch UMLS:C3151356 ; biolink:category biolink:Disease . OMIM:613930 a owl:Class ; rdfs:label "alopecia-intellectual disability syndrome 3" ; IAO:0000142 PMID:17451405 ; RO:0002525 CHR:9606chr18q11.2-q12.2 ; - oboInOwl:hasDbXref UMLS:C3151362 ; oboInOwl:hasExactSynonym "APMR3", "alopecia-intellectual disability syndrome 3", "alopecia-mental retardation syndrome 3" ; rdfs:subClassOf OMIMPS:203650 ; + skos:exactMatch UMLS:C3151362 ; biolink:category biolink:Disease . OMIM:613933 a owl:Class ; rdfs:label "acetyl-coa carboxylase deficiency" ; IAO:0000142 PMID:6114432 ; - oboInOwl:hasDbXref UMLS:C0268603 ; oboInOwl:hasExactSynonym "ACACAD", "acaca deficiency", "acc1 deficiency", "acetyl-coa carboxylase deficiency" ; + skos:exactMatch UMLS:C0268603 ; biolink:category biolink:Disease . OMIM:613938 a owl:Class ; @@ -448199,11 +464898,11 @@ OMIM:613938 a owl:Class ; PMID:7426840, PMID:9008515 ; RO:0002525 CHR:9606chr20q12-q13.12 ; - oboInOwl:hasDbXref UMLS:C3151363, - UMLS:C3151364 ; oboInOwl:hasExactSynonym "PSMNSW", "parasomnia, sleep terrors iia", "parasomnia, sleepwalking iia" ; + skos:exactMatch UMLS:C3151363, + UMLS:C3151364 ; biolink:category biolink:Disease . OMIM:613943 a owl:Class ; @@ -448215,12 +464914,12 @@ OMIM:613943 a owl:Class ; PMID:19434086, PMID:20643494, PMID:21439540 ; - oboInOwl:hasDbXref UMLS:C3553029 ; oboInOwl:hasExactSynonym "ARCI8", "ichthyosis, congenital, autosomal recessive 8", "ichthyosis, lamellar, 4, formerly", "lamellar ichthyosis, late-onset" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C3553029 ; biolink:category biolink:Disease . OMIM:613944 a owl:Class ; @@ -448228,10 +464927,10 @@ OMIM:613944 a owl:Class ; IAO:0000142 PMID:17186473, PMID:17634434 ; RO:0002525 CHR:9606chr2q36 ; - oboInOwl:hasDbXref UMLS:C3151378 ; oboInOwl:hasExactSynonym "IGAN2", "iga nephropathy, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:161950 ; + skos:exactMatch UMLS:C3151378 ; biolink:category biolink:Disease . OMIM:613949 a owl:Class ; @@ -448248,20 +464947,20 @@ OMIM:613949 a owl:Class ; PMID:6790623, PMID:7527746, PMID:7689618 ; - oboInOwl:hasDbXref UMLS:C3151379 ; oboInOwl:hasExactSynonym "OKT4D", "okt4 epitope deficiency", "t4 epitope deficiency" ; + skos:exactMatch UMLS:C3151379 ; biolink:category biolink:Disease . OMIM:613950 a owl:Class ; rdfs:label "schizophrenia 15" ; IAO:0000142 PMID:20385823 ; - oboInOwl:hasDbXref UMLS:C3151380 ; oboInOwl:hasExactSynonym "SCZD15", "schizophrenia 15", "schizophrenia 15 with or without an affective disorder", "schizophrenia susceptibility locus, chromosome 22q13-related" ; + skos:exactMatch UMLS:C3151380 ; biolink:category biolink:Disease . OMIM:613951 a owl:Class ; @@ -448269,10 +464968,10 @@ OMIM:613951 a owl:Class ; IAO:0000142 PMID:21240275, PMID:21240276, PMID:21240277 ; - oboInOwl:hasDbXref UMLS:C3469542 ; oboInOwl:hasExactSynonym "FANCP", "fanconi anemia, complementation group p" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C3469542 ; biolink:category biolink:Disease . OMIM:613953 a owl:Class ; @@ -448281,40 +464980,40 @@ OMIM:613953 a owl:Class ; PMID:21178015, PMID:21350122, PMID:27930337 ; - oboInOwl:hasDbXref UMLS:C4310803 ; oboInOwl:hasExactSynonym "IMD51", "candidiasis, familial, 5, formerly", "immunodeficiency 51" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4310803 ; biolink:category biolink:Disease . OMIM:613955 a owl:Class ; rdfs:label "amyloidosis, primary localized cutaneous, 2" ; IAO:0000142 PMID:19663869, PMID:19690585 ; - oboInOwl:hasDbXref UMLS:C3151404 ; oboInOwl:hasExactSynonym "PLCA2", "amyloidosis, primary localized cutaneous, 2" ; rdfs:subClassOf OMIMPS:105250 ; + skos:exactMatch UMLS:C3151404 ; biolink:category biolink:Disease . OMIM:613956 a owl:Class ; rdfs:label "candidiasis, familial, 6" ; IAO:0000142 PMID:21350122 ; - oboInOwl:hasDbXref UMLS:C3151405 ; oboInOwl:hasExactSynonym "CANDF6", "candidiasis, familial chronic mucocutaneous, autosomal dominant", "candidiasis, familial, 6" ; rdfs:subClassOf OMIMPS:114580 ; + skos:exactMatch UMLS:C3151405 ; biolink:category biolink:Disease . OMIM:613957 a owl:Class ; rdfs:label "spermatogenic failure 8" ; IAO:0000142 PMID:20887963 ; - oboInOwl:hasDbXref UMLS:C3151406 ; oboInOwl:hasExactSynonym "SPGF8", "spermatogenic failure 8" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C3151406 ; biolink:category biolink:Disease . OMIM:613958 a owl:Class ; @@ -448322,12 +465021,12 @@ OMIM:613958 a owl:Class ; IAO:0000142 PMID:15533374, PMID:21397063, PMID:21397064 ; - oboInOwl:hasDbXref UMLS:C3151407 ; oboInOwl:hasExactSynonym "SPGF9", "globozoospermia, complete", "globozoospermia, total", "spermatogenic failure 9" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C3151407 ; biolink:category biolink:Disease . OMIM:613960 a owl:Class ; @@ -448336,24 +465035,24 @@ OMIM:613960 a owl:Class ; PMID:17435756, PMID:19692703, PMID:29969437 ; - oboInOwl:hasDbXref UMLS:C3151409, - ORPHA:379 ; oboInOwl:hasExactSynonym "CGD3", "cgd, autosomal recessive cytochrome b-positive, iia 3", "granulomatous disease, chronic, autosomal recessive, 3", "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, iia 3", "granulomatous disease, chronic, due to ncf4 deficiency" ; rdfs:subClassOf OMIMPS:306400 ; + skos:exactMatch UMLS:C3151409, + ORPHA:379 ; biolink:category biolink:Disease . OMIM:613969 a owl:Class ; rdfs:label "myopia 19, autosomal dominant" ; IAO:0000142 PMID:21042559 ; RO:0002525 CHR:9606chr5p15.1-p13.3 ; - oboInOwl:hasDbXref UMLS:C3151410 ; oboInOwl:hasExactSynonym "MYP19", "myopia 19, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C3151410 ; biolink:category biolink:Disease . OMIM:613970 a owl:Class ; @@ -448364,21 +465063,21 @@ OMIM:613970 a owl:Class ; PMID:24272827, PMID:24863970, PMID:28377535 ; - oboInOwl:hasDbXref UMLS:C3151411, - ORPHA:178469 ; oboInOwl:hasExactSynonym "MRD6", "intellectual developmental disorder, autosomal dominant 6, with or without seizures", "mental retardation, autosomal dominant 6, with or without seizures" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C3151411, + ORPHA:178469 ; biolink:category biolink:Disease . OMIM:613972 a owl:Class ; rdfs:label "melanoma, cutaneous malignant, susceptibility to, 6" ; IAO:0000142 PMID:11059748 ; - oboInOwl:hasDbXref UMLS:C3151417 ; oboInOwl:hasExactSynonym "CMM6", "melanoma, cutaneous malignant, susceptibility to, 6" ; rdfs:subClassOf OMIMPS:155600 ; + skos:exactMatch UMLS:C3151417 ; biolink:category biolink:Disease . OMIM:613982 a owl:Class ; @@ -448388,19 +465087,19 @@ OMIM:613982 a owl:Class ; PMID:21353196, PMID:23054245, PMID:24519609 ; - oboInOwl:hasDbXref UMLS:C3279564 ; oboInOwl:hasExactSynonym "OI6", "osteogenesis imperfecta, iia 6" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C3279564 ; biolink:category biolink:Disease . OMIM:613983 a owl:Class ; rdfs:label "retinitis pigmentosa 60" ; IAO:0000142 PMID:21549338 ; - oboInOwl:hasDbXref UMLS:C3151434 ; oboInOwl:hasExactSynonym "RP60", "retinitis pigmentosa 60" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3151434 ; biolink:category biolink:Disease . OMIM:613985 a owl:Class ; @@ -448438,41 +465137,41 @@ OMIM:613985 a owl:Class ; PMID:6183586, PMID:6297530, PMID:6866053 ; - oboInOwl:hasDbXref UMLS:C0005283, + oboInOwl:hasExactSynonym "beta-thalassemia" ; + skos:exactMatch UMLS:C0005283, ORPHA:231214, ORPHA:231222, ORPHA:848 ; - oboInOwl:hasExactSynonym "beta-thalassemia" ; biolink:category biolink:Disease . OMIM:613987 a owl:Class ; rdfs:label "dyskeratosis congenita, autosomal recessive 2" ; IAO:0000142 PMID:18523010 ; - oboInOwl:hasDbXref UMLS:C3151441 ; oboInOwl:hasExactSynonym "DKCB2", "dyskeratosis congenita, autosomal recessive 2" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C3151441 ; biolink:category biolink:Disease . OMIM:613988 a owl:Class ; rdfs:label "dyskeratosis congenita, autosomal recessive 3" ; IAO:0000142 PMID:21205863, PMID:21602826 ; - oboInOwl:hasDbXref UMLS:C3151442 ; oboInOwl:hasExactSynonym "DKCB3", "dyskeratosis congenita, autosomal recessive 3" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C3151442 ; biolink:category biolink:Disease . OMIM:614008 a owl:Class ; rdfs:label "nestor-guillermo progeria syndrome" ; IAO:0000142 PMID:21549337, PMID:21932319 ; - oboInOwl:hasDbXref UMLS:C3151446 ; oboInOwl:hasExactSynonym "NGPS", "nestor-guillermo progeria syndrome", "progeria syndrome, childhood-onset, with osteolysis" ; rdfs:subClassOf OMIMPS:176670 ; + skos:exactMatch UMLS:C3151446 ; biolink:category biolink:Disease . OMIM:614009 a owl:Class ; @@ -448484,21 +465183,21 @@ OMIM:614009 a owl:Class ; PMID:7459434, PMID:7929844, PMID:8428006 ; - oboInOwl:hasDbXref UMLS:C3279614 ; oboInOwl:hasExactSynonym "BDPLT13", "bleeding disorder, platelet-type, 13, susceptibility to", "bleeding disorder, susceptibility to, due to defective platelet thromboxane a2 receptor" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C3279614 ; biolink:category biolink:Disease . OMIM:614017 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 16" ; IAO:0000142 PMID:21496787 ; - oboInOwl:hasDbXref UMLS:C3151460 ; oboInOwl:hasExactSynonym "CILD16", "ciliary dyskinesia, primary, 16", "ciliary dyskinesia, primary, 16, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3151460 ; biolink:category biolink:Disease . OMIM:614018 a owl:Class ; @@ -448506,10 +465205,10 @@ OMIM:614018 a owl:Class ; IAO:0000142 PMID:21549339, PMID:24458321, PMID:30363482 ; - oboInOwl:hasDbXref UMLS:C3279627 ; oboInOwl:hasExactSynonym "EPM6", "epilepsy, progressive myoclonic, 6" ; rdfs:subClassOf OMIMPS:254800 ; + skos:exactMatch UMLS:C3279627 ; biolink:category biolink:Disease . OMIM:614019 a owl:Class ; @@ -448517,12 +465216,12 @@ OMIM:614019 a owl:Class ; IAO:0000142 PMID:15473967, PMID:21529751, PMID:21529752 ; - oboInOwl:hasDbXref UMLS:C3151461, - ORPHA:1083 ; oboInOwl:hasExactSynonym "LIS4", "lissencephaly 4", "lissencephaly 4 with microcephaly" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C3151461, + ORPHA:1083 ; biolink:category biolink:Disease . OMIM:614020 a owl:Class ; @@ -448531,11 +465230,11 @@ OMIM:614020 a owl:Class ; PMID:18446860, PMID:21212097, PMID:22981120 ; - oboInOwl:hasDbXref UMLS:C3151462 ; oboInOwl:hasExactSynonym "MRT14", "intellectual developmental disorder, autosomal recessive 14", "mental retardation, autosomal recessive 14" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3151462 ; biolink:category biolink:Disease . OMIM:614021 a owl:Class ; @@ -448543,11 +465242,11 @@ OMIM:614021 a owl:Class ; IAO:0000142 PMID:17666061, PMID:27861123, PMID:30790670 ; - oboInOwl:hasDbXref UMLS:C3151463, - ORPHA:3286 ; oboInOwl:hasExactSynonym "CPVT3", "ventricular tachycardia, catecholaminergic polymorphic, 3" ; rdfs:subClassOf OMIMPS:604772 ; + skos:exactMatch UMLS:C3151463, + ORPHA:3286 ; biolink:category biolink:Disease . OMIM:614023 a owl:Class ; @@ -448555,9 +465254,9 @@ OMIM:614023 a owl:Class ; IAO:0000142 PMID:14673469, PMID:25080166, PMID:9222972 ; - oboInOwl:hasDbXref UMLS:C1291463 ; oboInOwl:hasExactSynonym "PSPHD", "phosphoserine phosphatase deficiency" ; + skos:exactMatch UMLS:C1291463 ; biolink:category biolink:Disease . OMIM:614024 a owl:Class ; @@ -448574,8 +465273,8 @@ OMIM:614024 a owl:Class ; PMID:7495103, PMID:9700859, PMID:9753048 ; - oboInOwl:hasDbXref UMLS:C3151465 ; oboInOwl:hasExactSynonym "protein z deficiency" ; + skos:exactMatch UMLS:C3151465 ; biolink:category biolink:Disease . OMIM:614028 a owl:Class ; @@ -448586,35 +465285,35 @@ OMIM:614028 a owl:Class ; PMID:24941082, PMID:25225788, PMID:28406212 ; - oboInOwl:hasDbXref UMLS:C3151467 ; oboInOwl:hasExactSynonym "apolipoprotein c-iii deficiency", "hyperalphalipoproteinemia 2" ; + skos:exactMatch UMLS:C3151467 ; biolink:category biolink:Disease . OMIM:614033 a owl:Class ; rdfs:label "hydroxyacyl glutathione hydrolase deficiency" ; IAO:0000142 PMID:5485124 ; - oboInOwl:hasDbXref UMLS:C3279657 ; oboInOwl:hasExactSynonym "glyoxalase 2 deficiency", - "hydroxyacyl glutathione hydrolase deficiency" . + "hydroxyacyl glutathione hydrolase deficiency" ; + skos:exactMatch UMLS:C3279657 . OMIM:614035 a owl:Class ; rdfs:label "deafness, autosomal recessive 29" ; IAO:0000142 PMID:11163249, PMID:22246673 ; - oboInOwl:hasDbXref UMLS:C3279660 ; oboInOwl:hasExactSynonym "DFNB29", "deafness, autosomal recessive 29" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3279660 ; biolink:category biolink:Disease . OMIM:614037 a owl:Class ; rdfs:label "leukotriene c4 synthase deficiency" ; IAO:0000142 PMID:10896305, PMID:9820300 ; - oboInOwl:hasDbXref UMLS:C3279662 ; oboInOwl:hasExactSynonym "leukotriene c4 synthase deficiency", - "ltc4 synthase deficiency" . + "ltc4 synthase deficiency" ; + skos:exactMatch UMLS:C3279662 . OMIM:614052 a owl:Class ; rdfs:label "mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2" ; @@ -448622,35 +465321,35 @@ OMIM:614052 a owl:Class ; PMID:21147908, PMID:24485043, PMID:30950220 ; - oboInOwl:hasDbXref UMLS:C3279699, - ORPHA:1194 ; oboInOwl:hasExactSynonym "MC5DN2", "encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency", "mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 2", "mitochondrial complex 5 (atp synthase) deficiency, tmem70 iia" ; rdfs:subClassOf OMIMPS:604273 ; + skos:exactMatch UMLS:C3279699, + ORPHA:1194 ; biolink:category biolink:Disease . OMIM:614053 a owl:Class ; rdfs:label "mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3" ; IAO:0000142 PMID:18953340, PMID:20566710 ; - oboInOwl:hasDbXref UMLS:C3279708, - ORPHA:254913 ; oboInOwl:hasExactSynonym "MC5DN3", "mitochondrial complex 5 (atp synthase) deficiency, atp5e iia", "mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 3" ; rdfs:subClassOf OMIMPS:604273 ; + skos:exactMatch UMLS:C3279708, + ORPHA:254913 ; biolink:category biolink:Disease . OMIM:614055 a owl:Class ; rdfs:label "acetyl-coa acetyltransferase-2 deficiency" ; IAO:0000142 PMID:20597, PMID:6150136 ; - oboInOwl:hasDbXref UMLS:C0342735 ; oboInOwl:hasExactSynonym "ACAT2D", "acat2 deficiency", - "acetyl-coa acetyltransferase-2 deficiency" . + "acetyl-coa acetyltransferase-2 deficiency" ; + skos:exactMatch UMLS:C0342735 . OMIM:614063 a owl:Class ; rdfs:label "n-acetylaspartate deficiency" ; @@ -448658,11 +465357,11 @@ OMIM:614063 a owl:Class ; PMID:15328569, PMID:16802720, PMID:19807691 ; - oboInOwl:hasDbXref UMLS:C3279716 ; oboInOwl:hasExactSynonym "NACED", "hypoacetylaspartia", "n-acetylaspartate deficiency", "naa deficiency" ; + skos:exactMatch UMLS:C3279716 ; biolink:category biolink:Disease . OMIM:614066 a owl:Class ; @@ -448672,23 +465371,23 @@ OMIM:614066 a owl:Class ; PMID:22290197, PMID:24700674, PMID:24781758 ; - oboInOwl:hasDbXref UMLS:C3279738, - ORPHA:280763 ; oboInOwl:hasExactSynonym "SPG47", "cerebral palsy, spastic quadriplegic, 5, formerly", "spastic paraplegia 47, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3279738, + ORPHA:280763 ; biolink:category biolink:Disease . OMIM:614067 a owl:Class ; rdfs:label "spastic paraplegia 52, autosomal recessive" ; IAO:0000142 PMID:21620353, PMID:25552650 ; - oboInOwl:hasDbXref UMLS:C3279743 ; oboInOwl:hasExactSynonym "SPG52", "cerebral palsy, spastic quadriplegic, 6, formerly", "spastic paraplegia 52, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3279743 ; biolink:category biolink:Disease . OMIM:614069 a owl:Class ; @@ -448697,32 +465396,32 @@ OMIM:614069 a owl:Class ; PMID:21596365, PMID:21906047, PMID:23486536 ; - oboInOwl:hasDbXref UMLS:C3279748 ; oboInOwl:hasExactSynonym "ICF2", "immunodeficiency-centromeric instability-facial anomalies syndrome 2" ; rdfs:subClassOf OMIMPS:242860 ; + skos:exactMatch UMLS:C3279748 ; biolink:category biolink:Disease . OMIM:614070 a owl:Class ; rdfs:label "psoriasis 13, susceptibility to" ; IAO:0000142 PMID:20953186, PMID:20953188 ; - oboInOwl:hasDbXref UMLS:C3279754 ; oboInOwl:hasExactSynonym "PSORS13", "psoriasis 13, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C3279754 ; biolink:category biolink:Disease . OMIM:614072 a owl:Class ; rdfs:label "hermansky-pudlak syndrome 3" ; IAO:0000142 PMID:11455388, PMID:9345105 ; - oboInOwl:hasDbXref UMLS:C3888001, - ORPHA:231512, - ORPHA:79430 ; oboInOwl:hasExactSynonym "HPS3", "hermansky-pudlak syndrome 3" ; rdfs:subClassOf OMIMPS:203300 ; + skos:exactMatch UMLS:C3888001, + ORPHA:231512, + ORPHA:79430 ; biolink:category biolink:Disease . OMIM:614073 a owl:Class ; @@ -448730,12 +465429,12 @@ OMIM:614073 a owl:Class ; IAO:0000142 PMID:11836498, PMID:12664304, PMID:15108212 ; - oboInOwl:hasDbXref UMLS:C3484357, - ORPHA:231500, - ORPHA:79430 ; oboInOwl:hasExactSynonym "HPS4", "hermansky-pudlak syndrome 4" ; rdfs:subClassOf OMIMPS:203300 ; + skos:exactMatch UMLS:C3484357, + ORPHA:231500, + ORPHA:79430 ; biolink:category biolink:Disease . OMIM:614074 a owl:Class ; @@ -448744,12 +465443,12 @@ OMIM:614074 a owl:Class ; PMID:15296495, PMID:23607980, PMID:28296950 ; - oboInOwl:hasDbXref UMLS:C3888004, - ORPHA:231512, - ORPHA:79430 ; oboInOwl:hasExactSynonym "HPS5", "hermansky-pudlak syndrome 5" ; rdfs:subClassOf OMIMPS:203300 ; + skos:exactMatch UMLS:C3888004, + ORPHA:231512, + ORPHA:79430 ; biolink:category biolink:Disease . OMIM:614075 a owl:Class ; @@ -448758,12 +465457,12 @@ OMIM:614075 a owl:Class ; PMID:17041891, PMID:19843503, PMID:27225848 ; - oboInOwl:hasDbXref UMLS:C3888007, - ORPHA:231512, - ORPHA:79430 ; oboInOwl:hasExactSynonym "HPS6", "hermansky-pudlak syndrome 6" ; rdfs:subClassOf OMIMPS:203300 ; + skos:exactMatch UMLS:C3888007, + ORPHA:231512, + ORPHA:79430 ; biolink:category biolink:Disease . OMIM:614076 a owl:Class ; @@ -448772,10 +465471,10 @@ OMIM:614076 a owl:Class ; PMID:1936982, PMID:23364359, PMID:28259707 ; - oboInOwl:hasDbXref UMLS:C3279756 ; oboInOwl:hasExactSynonym "HPS7", "hermansky-pudlak syndrome 7" ; rdfs:subClassOf OMIMPS:203300 ; + skos:exactMatch UMLS:C3279756 ; biolink:category biolink:Disease . OMIM:614077 a owl:Class ; @@ -448783,19 +465482,19 @@ OMIM:614077 a owl:Class ; IAO:0000142 PMID:15102850, PMID:16385460, PMID:22709368 ; - oboInOwl:hasDbXref UMLS:C3888026 ; oboInOwl:hasExactSynonym "HPS8", "hermansky-pudlak syndrome 8" ; rdfs:subClassOf OMIMPS:203300 ; + skos:exactMatch UMLS:C3888026 ; biolink:category biolink:Disease . OMIM:614078 a owl:Class ; rdfs:label "chondrodysplasia with joint dislocations, gpapp iia" ; IAO:0000142 PMID:21549340, PMID:22887726 ; - oboInOwl:hasDbXref UMLS:C3279757 ; oboInOwl:hasExactSynonym "chondrodysplasia with joint dislocations, gpapp iia", "gpapp deficiency" ; + skos:exactMatch UMLS:C3279757 ; biolink:category biolink:Disease . OMIM:614080 a owl:Class ; @@ -448807,11 +465506,11 @@ OMIM:614080 a owl:Class ; PMID:26419326, PMID:27038415, PMID:29310717 ; - oboInOwl:hasDbXref UMLS:C3279775 ; oboInOwl:hasExactSynonym "MCAHS1", "glycosylphosphatidylinositol biosynthesis defect 3", "multiple congenital anomalies-hypotonia-seizures syndrome 1" ; rdfs:subClassOf OMIMPS:614080 ; + skos:exactMatch UMLS:C3279775 ; biolink:category biolink:Disease . OMIM:614081 a owl:Class ; @@ -448823,12 +465522,12 @@ OMIM:614081 a owl:Class ; PMID:3981086, PMID:9463309, PMID:9558414 ; - oboInOwl:hasDbXref UMLS:C3279786, - UMLS:C3279787 ; oboInOwl:hasExactSynonym "AHP", "ahaptoglobinemia", "anhaptoglobinemia", "hypohaptoglobinemia" ; + skos:exactMatch UMLS:C3279786, + UMLS:C3279787 ; biolink:category biolink:Disease . OMIM:614082 a owl:Class ; @@ -448837,10 +465536,10 @@ OMIM:614082 a owl:Class ; PMID:12552564, PMID:21568838, PMID:9806548 ; - oboInOwl:hasDbXref UMLS:C3469527 ; oboInOwl:hasExactSynonym "FANCG", "fanconi anemia, complementation group g" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C3469527 ; biolink:category biolink:Disease . OMIM:614083 a owl:Class ; @@ -448849,19 +465548,19 @@ OMIM:614083 a owl:Class ; PMID:19405097, PMID:21568838, PMID:25754594 ; - oboInOwl:hasDbXref UMLS:C3469528 ; oboInOwl:hasExactSynonym "FANCL", "fanconi anemia, complementation group 50" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C3469528 ; biolink:category biolink:Disease . OMIM:614090 a owl:Class ; rdfs:label "sick sinus syndrome 3, susceptibility to" ; IAO:0000142 PMID:21378987 ; - oboInOwl:hasDbXref UMLS:C3279791 ; oboInOwl:hasExactSynonym "SSS3", "sick sinus syndrome 3, susceptibility to" ; rdfs:subClassOf OMIMPS:608567 ; + skos:exactMatch UMLS:C3279791 ; biolink:category biolink:Disease . OMIM:614091 a owl:Class ; @@ -448873,15 +465572,15 @@ OMIM:614091 a owl:Class ; PMID:25908617, PMID:27158779, PMID:28400947 ; - oboInOwl:hasDbXref UMLS:C3279792, - UMLS:C4747658, - ORPHA:498497, - ORPHA:93271 ; oboInOwl:hasExactSynonym "SRTD7", "short rib-polydactyly syndrome, iia 5", "short-rib thoracic dysplasia 7 with or without polydactyly", "short-rib thoracic dysplasia 7/20 with polydactyly, digenic" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C3279792, + UMLS:C4747658, + ORPHA:498497, + ORPHA:93271 ; biolink:category biolink:Disease . OMIM:614097 a owl:Class ; @@ -448897,10 +465596,10 @@ OMIM:614097 a owl:Class ; PMID:2308162, PMID:4069828, PMID:8673475 ; - oboInOwl:hasDbXref UMLS:C0268419 ; oboInOwl:hasExactSynonym "acatalasemia", "acatalasia", "catalase deficiency" ; + skos:exactMatch UMLS:C0268419 ; biolink:category biolink:Disease . OMIM:614098 a owl:Class ; @@ -448910,9 +465609,9 @@ OMIM:614098 a owl:Class ; PMID:25620207, PMID:4128371, PMID:7550338 ; - oboInOwl:hasDbXref UMLS:C3279800 ; oboInOwl:hasExactSynonym "KPLBS", "keppen-lubinsky syndrome" ; + skos:exactMatch UMLS:C3279800 ; biolink:category biolink:Disease . OMIM:614102 a owl:Class ; @@ -448921,10 +465620,10 @@ OMIM:614102 a owl:Class ; PMID:4117311, PMID:812574, PMID:815819 ; - oboInOwl:hasDbXref UMLS:C3279824 ; oboInOwl:hasExactSynonym "IGKCD", "immunoglobulin kappa light chain deficiency", "kappa chain deficiency" ; + skos:exactMatch UMLS:C3279824 ; biolink:category biolink:Disease . OMIM:614104 a owl:Class ; @@ -448934,11 +465633,11 @@ OMIM:614104 a owl:Class ; PMID:23099646, PMID:23160955, PMID:9106547 ; - oboInOwl:hasDbXref UMLS:C3279839 ; oboInOwl:hasExactSynonym "MRD7", "intellectual developmental disorder, autosomal dominant 7", "mental retardation, autosomal dominant 7" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C3279839 ; biolink:category biolink:Disease . OMIM:614105 a owl:Class ; @@ -448950,11 +465649,11 @@ OMIM:614105 a owl:Class ; PMID:3117077, PMID:32151545, PMID:3939535 ; - oboInOwl:hasDbXref UMLS:C3279840, - ORPHA:289307 ; oboInOwl:hasExactSynonym "MMSDHD", "methylmalonate semialdehyde dehydrogenase deficiency", "mmsdh deficiency" ; + skos:exactMatch UMLS:C3279840, + ORPHA:289307 ; biolink:category biolink:Disease . OMIM:614111 a owl:Class ; @@ -448963,12 +465662,12 @@ OMIM:614111 a owl:Class ; PMID:18164639, PMID:19924563, PMID:26865159 ; - oboInOwl:hasDbXref UMLS:C3279841, - ORPHA:255138, - ORPHA:765 ; oboInOwl:hasExactSynonym "PDHBD", "pyruvate dehydrogenase e1-beta deficiency" ; rdfs:subClassOf OMIMPS:312170 ; + skos:exactMatch UMLS:C3279841, + ORPHA:255138, + ORPHA:765 ; biolink:category biolink:Disease . OMIM:614114 a owl:Class ; @@ -448977,19 +465676,19 @@ OMIM:614114 a owl:Class ; PMID:18548531, PMID:21552266, PMID:24259107 ; - oboInOwl:hasDbXref UMLS:C3279843, - ORPHA:1052 ; oboInOwl:hasExactSynonym "MVA2", "mosaic variegated aneuploidy syndrome 2" ; rdfs:subClassOf OMIMPS:257300 ; + skos:exactMatch UMLS:C3279843, + ORPHA:1052 ; biolink:category biolink:Disease . OMIM:614115 a owl:Class ; rdfs:label "cortical malformations, occipital" ; IAO:0000142 PMID:21572413 ; - oboInOwl:hasDbXref UMLS:C3279875 ; oboInOwl:hasExactSynonym "OCCM", "cortical malformations, occipital" ; + skos:exactMatch UMLS:C3279875 ; biolink:category biolink:Disease . OMIM:614116 a owl:Class ; @@ -448998,12 +465697,12 @@ OMIM:614116 a owl:Class ; PMID:21532572, PMID:23365052, PMID:7898717 ; - oboInOwl:hasDbXref UMLS:C3279885 ; oboInOwl:hasExactSynonym "HSN1E", "hsn 1e", "neuropathy, hereditary sensory, iia 1e", "neuropathy, hereditary sensory, with hearing loss and dementia" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C3279885 ; biolink:category biolink:Disease . OMIM:614122 a owl:Class ; @@ -449012,9 +465711,9 @@ OMIM:614122 a owl:Class ; PMID:8132768, PMID:8750610, PMID:9748235 ; - oboInOwl:hasDbXref UMLS:C3279902 ; oboInOwl:hasExactSynonym "CHITD", "chitotriosidase deficiency" ; + skos:exactMatch UMLS:C3279902 ; biolink:category biolink:Disease . OMIM:614128 a owl:Class ; @@ -449025,9 +465724,9 @@ OMIM:614128 a owl:Class ; PMID:5170469, PMID:6383647, PMID:8270259 ; - oboInOwl:hasDbXref UMLS:C3279904 ; oboInOwl:hasExactSynonym "LDHBD", "lactate dehydrogenase B deficiency" ; + skos:exactMatch UMLS:C3279904 ; biolink:category biolink:Disease . OMIM:614129 a owl:Class ; @@ -449037,32 +465736,32 @@ OMIM:614129 a owl:Class ; PMID:22037954, PMID:23541340, PMID:27087618 ; - oboInOwl:hasDbXref UMLS:C3808414 ; oboInOwl:hasExactSynonym "PRLTS3", "deafness, autosomal recessive 81, formerly", "perrault syndrome 3" ; rdfs:subClassOf OMIMPS:233400 ; + skos:exactMatch UMLS:C3808414 ; biolink:category biolink:Disease . OMIM:614131 a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 6" ; IAO:0000142 PMID:19005011, PMID:21756023 ; - oboInOwl:hasDbXref UMLS:C3279905 ; oboInOwl:hasExactSynonym "FSGS6", "focal segmental glomerulosclerosis 6", "glomerulosclerosis, focal segmental, 6" ; rdfs:subClassOf OMIMPS:603278 ; + skos:exactMatch UMLS:C3279905 ; biolink:category biolink:Disease . OMIM:614134 a owl:Class ; rdfs:label "stickler syndrome, iia 4" ; IAO:0000142 PMID:16909383, PMID:21421862 ; - oboInOwl:hasDbXref UMLS:C3279941 ; oboInOwl:hasExactSynonym "STL4", "stickler syndrome, iia 4" ; rdfs:subClassOf OMIMPS:108300 ; + skos:exactMatch UMLS:C3279941 ; biolink:category biolink:Disease . OMIM:614149 a owl:Class ; @@ -449070,22 +465769,22 @@ OMIM:614149 a owl:Class ; IAO:0000142 PMID:15200512 ; RO:0002525 CHR:9606chr17q25.1-q25.3 ; RO:0003303 OMIM:9 ; - oboInOwl:hasDbXref UMLS:C3279947 ; oboInOwl:hasExactSynonym "NDNC9", "anonychia-onycholysis, isolated", "nail disorder, nonsyndromic congenital, 9", "nail dysplasia", "onychodystrophy" ; rdfs:subClassOf OMIMPS:161050 ; + skos:exactMatch UMLS:C3279947 ; biolink:category biolink:Disease . OMIM:614152 a owl:Class ; rdfs:label "deafness, autosomal dominant 64" ; IAO:0000142 PMID:21722859 ; - oboInOwl:hasDbXref UMLS:C3279948 ; oboInOwl:hasExactSynonym "DFNA64", "deafness, autosomal dominant 64" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C3279948 ; biolink:category biolink:Disease . OMIM:614153 a owl:Class ; @@ -449093,10 +465792,10 @@ OMIM:614153 a owl:Class ; IAO:0000142 PMID:21683323, PMID:22492559, PMID:22744658 ; - oboInOwl:hasDbXref UMLS:C3472711 ; oboInOwl:hasExactSynonym "SCA36", "spinocerebellar ataxia 36" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C3472711 ; biolink:category biolink:Disease . OMIM:614156 a owl:Class ; @@ -449104,10 +465803,10 @@ OMIM:614156 a owl:Class ; IAO:0000142 PMID:19580635, PMID:19699374, PMID:21278388 ; - oboInOwl:hasDbXref UMLS:C3279964 ; oboInOwl:hasExactSynonym "HBLVD", "green jaundice", "hyperbiliverdinemia" ; + skos:exactMatch UMLS:C3279964 ; biolink:category biolink:Disease . OMIM:614158 a owl:Class ; @@ -449116,11 +465815,11 @@ OMIM:614158 a owl:Class ; PMID:6268139 ; RO:0002525 CHR:9606chr7q34 ; RO:0003303 OMIM:14 ; - oboInOwl:hasDbXref UMLS:C0398635 ; oboInOwl:hasExactSynonym "BDPLT14", "bleeding disorder, platelet-type, 14", "thromboxane synthetase deficiency" ; - rdfs:subClassOf OMIMPS:231200 . + rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C0398635 . OMIM:614160 a owl:Class ; rdfs:label "muscle hypertrophy" ; @@ -449134,9 +465833,9 @@ OMIM:614160 a owl:Class ; PMID:9139826, PMID:9288100, PMID:9680391 ; - oboInOwl:hasDbXref UMLS:C0236033 ; oboInOwl:hasExactSynonym "MSLHP", "muscle hypertrophy" ; + skos:exactMatch UMLS:C0236033 ; biolink:category biolink:Disease . OMIM:614162 a owl:Class ; @@ -449152,14 +465851,14 @@ OMIM:614162 a owl:Class ; PMID:30092289, PMID:30317461, PMID:33027576 ; - oboInOwl:hasDbXref UMLS:C3279990, - ORPHA:391487 ; oboInOwl:hasExactSynonym "IMD31C", "candidiasis, familial chronic mucocutaneous, autosomal dominant", "candidiasis, familial, 7", "immunodeficiency 31c" ; rdfs:subClassOf OMIMPS:114580, OMIMPS:300755 ; + skos:exactMatch UMLS:C3279990, + ORPHA:391487 ; biolink:category biolink:Disease . OMIM:614163 a owl:Class ; @@ -449168,9 +465867,9 @@ OMIM:614163 a owl:Class ; PMID:12736803, PMID:28388406 ; RO:0002525 CHR:9606chr17q25 ; - oboInOwl:hasDbXref UMLS:C3279991 ; oboInOwl:hasExactSynonym "DSPD", "delayed sleep phase disorder, susceptibility to" ; + skos:exactMatch UMLS:C3279991 ; biolink:category biolink:Disease . OMIM:614164 a owl:Class ; @@ -449184,9 +465883,9 @@ OMIM:614164 a owl:Class ; PMID:5481505, PMID:5572598, PMID:5766310 ; - oboInOwl:hasDbXref UMLS:C0398747 ; oboInOwl:hasExactSynonym "GPXD", "glutathione peroxidase deficiency" ; + skos:exactMatch UMLS:C0398747 ; biolink:category biolink:Disease . OMIM:614165 a owl:Class ; @@ -449194,30 +465893,30 @@ OMIM:614165 a owl:Class ; IAO:0000142 PMID:20484225, PMID:21752896, PMID:23750034 ; - oboInOwl:hasDbXref UMLS:C3279992 ; oboInOwl:hasExactSynonym "PGL5", "paragangliomas 5" ; rdfs:subClassOf OMIMPS:168000 ; + skos:exactMatch UMLS:C3279992 ; biolink:category biolink:Disease . OMIM:614166 a owl:Class ; rdfs:label "myopia 20, autosomal dominant" ; IAO:0000142 PMID:21640322 ; RO:0002525 CHR:9606chr13q12.12 ; - oboInOwl:hasDbXref UMLS:C3279996 ; oboInOwl:hasExactSynonym "MYP20", "myopia 20, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C3279996 ; biolink:category biolink:Disease . OMIM:614167 a owl:Class ; rdfs:label "myopia 21, autosomal dominant" ; IAO:0000142 PMID:21695231, PMID:22539872 ; - oboInOwl:hasDbXref UMLS:C3279997 ; oboInOwl:hasExactSynonym "MYP21", "myopia 21, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C3279997 ; biolink:category biolink:Disease . OMIM:614170 a owl:Class ; @@ -449228,81 +465927,81 @@ OMIM:614170 a owl:Class ; PMID:26395458, PMID:28306229, PMID:8458232 ; - oboInOwl:hasDbXref UMLS:C3280011 ; oboInOwl:hasExactSynonym "BCS2", "brittle cornea syndrome 2" ; rdfs:subClassOf OMIMPS:130000, OMIMPS:229200 ; + skos:exactMatch UMLS:C3280011 ; biolink:category biolink:Disease . OMIM:614171 a owl:Class ; rdfs:label "hermansky-pudlak syndrome 9" ; IAO:0000142 PMID:21665000, PMID:22461475 ; - oboInOwl:hasDbXref UMLS:C3280026 ; oboInOwl:hasExactSynonym "HPS9", "hermansky-pudlak syndrome 9" ; rdfs:subClassOf OMIMPS:203300 ; + skos:exactMatch UMLS:C3280026 ; biolink:category biolink:Disease . OMIM:614173 a owl:Class ; rdfs:label "joubert syndrome 13" ; IAO:0000142 PMID:21725307, PMID:26477546 ; - oboInOwl:hasDbXref UMLS:C3280031 ; oboInOwl:hasExactSynonym "JBTS13", "joubert syndrome 13" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C3280031 ; biolink:category biolink:Disease . OMIM:614175 a owl:Class ; rdfs:label "meckel syndrome, iia 10" ; IAO:0000142 PMID:21763481, PMID:26092869 ; - oboInOwl:hasDbXref UMLS:C3280036, - UMLS:C4539386 ; oboInOwl:hasExactSynonym "MKS10", "joubert syndrome 34", "meckel syndrome, iia 10" ; rdfs:subClassOf OMIMPS:213300, OMIMPS:249000 ; + skos:exactMatch UMLS:C3280036, + UMLS:C4539386 ; biolink:category biolink:Disease . OMIM:614181 a owl:Class ; rdfs:label "retinitis pigmentosa 62" ; IAO:0000142 PMID:21825139, PMID:21835304 ; - oboInOwl:hasDbXref UMLS:C3280042 ; oboInOwl:hasExactSynonym "RP62", "retinitis pigmentosa 62" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3280042 ; biolink:category biolink:Disease . OMIM:614187 a owl:Class ; rdfs:label "hypertelorism, preauricular sinus, punctal pits, and deafness" ; IAO:0000142 PMID:21480481 ; RO:0002525 CHR:9606chr14q31 ; - oboInOwl:hasDbXref UMLS:C3280065 ; oboInOwl:hasExactSynonym "HPPD", "hypertelorism, preauricular sinus, punctal pits, and deafness" ; + skos:exactMatch UMLS:C3280065 ; biolink:category biolink:Disease . OMIM:614188 a owl:Class ; rdfs:label "craniosynostosis and dental anomalies" ; IAO:0000142 PMID:21741611 ; - oboInOwl:hasDbXref UMLS:C3280073 ; oboInOwl:hasExactSynonym "CRSDA", "craniosynostosis and dental anomalies", "kreiborg-pakistani syndrome" ; + skos:exactMatch UMLS:C3280073 ; biolink:category biolink:Disease . OMIM:614196 a owl:Class ; rdfs:label "nephrotic syndrome, iia 6" ; IAO:0000142 PMID:21722858 ; - oboInOwl:hasDbXref UMLS:C3280100 ; oboInOwl:hasExactSynonym "NPHS6", "nephrotic syndrome, iia 6" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C3280100 ; biolink:category biolink:Disease . OMIM:614200 a owl:Class ; @@ -449312,25 +466011,25 @@ OMIM:614200 a owl:Class ; PMID:2943331 ; RO:0002525 CHR:9606chr5q11.2 ; RO:0003303 OMIM:9 ; - oboInOwl:hasDbXref UMLS:C3280114 ; oboInOwl:hasExactSynonym "BDPLT9", "bleeding disorder, platelet-type, 9", "collagen platelet receptor deficiency", "glycoprotein ia deficiency", "gp ia deficiency" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C3280114 ; biolink:category biolink:Disease . OMIM:614201 a owl:Class ; rdfs:label "bleeding disorder, platelet-type, 11" ; IAO:0000142 PMID:19549989, PMID:19552682 ; - oboInOwl:hasDbXref UMLS:C3280120 ; oboInOwl:hasExactSynonym "BDPLT11", "bleeding disorder, platelet-type, 11", "glycoprotein 6 deficiency", "gp 6 deficiency" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C3280120 ; biolink:category biolink:Disease . OMIM:614202 a owl:Class ; @@ -449342,13 +466041,13 @@ OMIM:614202 a owl:Class ; PMID:24566669, PMID:26279649, PMID:29908352 ; - oboInOwl:hasDbXref UMLS:C3280127, - ORPHA:88616 ; oboInOwl:hasExactSynonym "RAFQS", "cdg2u", "mental retardation, autosomal recessive 15, formerly", "rafiq syndrome" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280127, + ORPHA:88616 ; biolink:category biolink:Disease . OMIM:614203 a owl:Class ; @@ -449361,10 +466060,10 @@ OMIM:614203 a owl:Class ; PMID:22801713, PMID:22991136, PMID:23408866 ; - oboInOwl:hasDbXref UMLS:C3280133 ; oboInOwl:hasExactSynonym "PARK17", "parkinson disease 17" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C3280133 ; biolink:category biolink:Disease . OMIM:614204 a owl:Class ; @@ -449379,10 +466078,6 @@ OMIM:614204 a owl:Class ; PMID:23863864, PMID:24129779, PMID:28887889 ; - oboInOwl:hasDbXref UMLS:C0392439, - UMLS:C4759670, - ORPHA:247353, - ORPHA:404546 ; oboInOwl:hasExactSynonym "PSORS14", "acrodermatitis continua of hallopeau", "generalized pustular psoriasis", @@ -449391,16 +466086,20 @@ OMIM:614204 a owl:Class ; "psoriasis 14, pustular", "psorp" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C0392439, + UMLS:C4759670, + ORPHA:247353, + ORPHA:404546 ; biolink:category biolink:Disease . OMIM:614205 a owl:Class ; rdfs:label "three m syndrome 3" ; IAO:0000142 PMID:21737058 ; - oboInOwl:hasDbXref UMLS:C3280146 ; oboInOwl:hasExactSynonym "3M3", "3m syndrome 3", "three m syndrome 3" ; rdfs:subClassOf OMIMPS:273750 ; + skos:exactMatch UMLS:C3280146 ; biolink:category biolink:Disease . OMIM:614207 a owl:Class ; @@ -449409,24 +466108,24 @@ OMIM:614207 a owl:Class ; PMID:21643797, PMID:23561846, PMID:23561847 ; - oboInOwl:hasDbXref UMLS:C3280153 ; oboInOwl:hasExactSynonym "HPMRS3", "glycosylphosphatidylinositol biosynthesis defect 8", "hyperphosphatasia with mental retardation syndrome 3", "mental retardation, autosomal recessive 17", "mental retardation, autosomal recessive 21" ; rdfs:subClassOf OMIMPS:239300 ; + skos:exactMatch UMLS:C3280153 ; biolink:category biolink:Disease . OMIM:614208 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 16" ; IAO:0000142 PMID:20345473 ; RO:0002525 CHR:9606chr9p23-p13.3 ; - oboInOwl:hasDbXref UMLS:C3280154 ; oboInOwl:hasExactSynonym "MRT16", "intellectual developmental disorder, autosomal recessive 16", "mental retardation, autosomal recessive 16" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280154 ; biolink:category biolink:Disease . OMIM:614210 a owl:Class ; @@ -449434,19 +466133,19 @@ OMIM:614210 a owl:Class ; IAO:0000142 PMID:20871597, PMID:21725308 ; RO:0002525 CHR:9606chr3q28 ; - oboInOwl:hasDbXref UMLS:C3280156 ; oboInOwl:hasExactSynonym "LNCR5", "lung cancer susceptibility 5" ; + skos:exactMatch UMLS:C3280156 ; biolink:category biolink:Disease . OMIM:614211 a owl:Class ; rdfs:label "deafness, autosomal dominant 33" ; IAO:0000142 PMID:19183916 ; RO:0002525 CHR:9606chr13q34 ; - oboInOwl:hasDbXref UMLS:C3887930 ; oboInOwl:hasExactSynonym "DFNA33", "deafness, autosomal dominant 33" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C3887930 ; biolink:category biolink:Disease . OMIM:614212 a owl:Class ; @@ -449455,10 +466154,10 @@ OMIM:614212 a owl:Class ; PMID:20934285, PMID:21277129, PMID:21697855 ; - oboInOwl:hasDbXref UMLS:C3280160 ; oboInOwl:hasExactSynonym "IIAE4", "encephalopathy, acute, infection-induced, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:610551 ; + skos:exactMatch UMLS:C3280160 ; biolink:category biolink:Disease . OMIM:614219 a owl:Class ; @@ -449477,10 +466176,10 @@ OMIM:614219 a owl:Class ; PMID:3354597, PMID:8849019, PMID:9788561 ; - oboInOwl:hasDbXref UMLS:C3280182 ; oboInOwl:hasExactSynonym "AOS2", "adams-oliver syndrome 2" ; rdfs:subClassOf OMIMPS:100300 ; + skos:exactMatch UMLS:C3280182 ; biolink:category biolink:Disease . OMIM:614220 a owl:Class ; @@ -449491,10 +466190,10 @@ OMIM:614220 a owl:Class ; PMID:8900092 ; RO:0002525 CHR:9606chr7q32 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C3280201 ; oboInOwl:hasExactSynonym "PBC4", "biliary cirrhosis, primary, 4" ; rdfs:subClassOf OMIMPS:109720 ; + skos:exactMatch UMLS:C3280201 ; biolink:category biolink:Disease . OMIM:614221 a owl:Class ; @@ -449505,10 +466204,10 @@ OMIM:614221 a owl:Class ; PMID:8900092 ; RO:0002525 CHR:9606chr17q12 ; RO:0003303 OMIM:5 ; - oboInOwl:hasDbXref UMLS:C3280202 ; oboInOwl:hasExactSynonym "PBC5", "biliary cirrhosis, primary, 5" ; rdfs:subClassOf OMIMPS:109720 ; + skos:exactMatch UMLS:C3280202 ; biolink:category biolink:Disease . OMIM:614222 a owl:Class ; @@ -449518,50 +466217,50 @@ OMIM:614222 a owl:Class ; PMID:20512159, PMID:21473985, PMID:23420520 ; - oboInOwl:hasDbXref UMLS:C3280203 ; oboInOwl:hasExactSynonym "WARBM3", "micro syndrome 3", "warburg micro syndrome 3" ; rdfs:subClassOf OMIMPS:600118 ; + skos:exactMatch UMLS:C3280203 ; biolink:category biolink:Disease . OMIM:614223 a owl:Class ; rdfs:label "narcolepsy 6, susceptibility to" ; IAO:0000142 PMID:21170044 ; RO:0002525 CHR:9606chr19p13.2 ; - oboInOwl:hasDbXref UMLS:C3280204 ; oboInOwl:hasExactSynonym "NRCLP6", "narcolepsy 6, susceptibility to" ; rdfs:subClassOf OMIMPS:161400 ; + skos:exactMatch UMLS:C3280204 ; biolink:category biolink:Disease . OMIM:614224 a owl:Class ; rdfs:label "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" ; IAO:0000142 PMID:12441727, PMID:21835307 ; - oboInOwl:hasDbXref UMLS:C3280205 ; oboInOwl:hasExactSynonym "RAMSVPS", "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" ; + skos:exactMatch UMLS:C3280205 ; biolink:category biolink:Disease . OMIM:614225 a owl:Class ; rdfs:label "warburg micro syndrome 2" ; IAO:0000142 PMID:20967465, PMID:23420520 ; - oboInOwl:hasDbXref UMLS:C3280214 ; oboInOwl:hasExactSynonym "WARBM2", "micro syndrome 2", "warburg micro syndrome 2" ; rdfs:subClassOf OMIMPS:600118 ; + skos:exactMatch UMLS:C3280214 ; biolink:category biolink:Disease . OMIM:614226 a owl:Class ; rdfs:label "holoprosencephaly 11" ; IAO:0000142 PMID:21802063 ; - oboInOwl:hasDbXref UMLS:C3280215 ; oboInOwl:hasExactSynonym "HPE11", "holoprosencephaly 11" ; rdfs:subClassOf OMIMPS:236100 ; + skos:exactMatch UMLS:C3280215 ; biolink:category biolink:Disease . OMIM:614227 a owl:Class ; @@ -449571,18 +466270,18 @@ OMIM:614227 a owl:Class ; PMID:20976470 ; RO:0002525 CHR:9606chr2p22.1-p21 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C3280216 ; oboInOwl:hasExactSynonym "HNFJ3", "hyperuricemic nephropathy, familial juvenile, 3" ; + skos:exactMatch UMLS:C3280216 ; biolink:category biolink:Disease . OMIM:614229 a owl:Class ; rdfs:label "spinocerebellar ataxia, autosomal recessive 11" ; IAO:0000142 PMID:21835308 ; - oboInOwl:hasDbXref UMLS:C3280226 ; oboInOwl:hasExactSynonym "SCAR11", "spinocerebellar ataxia, autosomal recessive 11" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C3280226 ; biolink:category biolink:Disease . OMIM:614231 a owl:Class ; @@ -449591,51 +466290,51 @@ OMIM:614231 a owl:Class ; PMID:21835305, PMID:22991235, PMID:24138066 ; - oboInOwl:hasDbXref UMLS:C3280240 ; oboInOwl:hasExactSynonym "MEDS1", "meds", "microcephaly, epilepsy, and diabetes syndrome 1" ; rdfs:subClassOf OMIMPS:614231 ; + skos:exactMatch UMLS:C3280240 ; biolink:category biolink:Disease . OMIM:614237 a owl:Class ; rdfs:label "hypotrichosis 9" ; IAO:0000142 PMID:20054564 ; RO:0002525 CHR:9606chr10q11.23-q22.3 ; - oboInOwl:hasDbXref UMLS:C3280252 ; oboInOwl:hasExactSynonym "HYPT9", "hypotrichosis 9" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C3280252 ; biolink:category biolink:Disease . OMIM:614238 a owl:Class ; rdfs:label "hypotrichosis 10" ; IAO:0000142 PMID:20544222 ; RO:0002525 CHR:9606chr7p22.3-p21.3 ; - oboInOwl:hasDbXref UMLS:C3280253 ; oboInOwl:hasExactSynonym "HYPT10", "hypotrichosis 10" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C3280253 ; biolink:category biolink:Disease . OMIM:614249 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 18, with or without epilepsy" ; IAO:0000142 PMID:21868677 ; - oboInOwl:hasDbXref UMLS:C3280265 ; oboInOwl:hasExactSynonym "MRT18", "intellectual developmental disorder, autosomal recessive 18", "intellectual developmental disorder, autosomal recessive 18, with or without epilepsy", "mental retardation, autosomal recessive 18" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280265 ; biolink:category biolink:Disease . OMIM:614250 a owl:Class ; rdfs:label "narcolepsy 7" ; IAO:0000142 PMID:21907016 ; - oboInOwl:hasDbXref UMLS:C3280266 ; oboInOwl:hasExactSynonym "NRCLP7", "narcolepsy 7" ; rdfs:subClassOf OMIMPS:161400 ; + skos:exactMatch UMLS:C3280266 ; biolink:category biolink:Disease . OMIM:614251 a owl:Class ; @@ -449645,10 +466344,10 @@ OMIM:614251 a owl:Class ; PMID:21907011, PMID:23408866, PMID:25368108 ; - oboInOwl:hasDbXref UMLS:C3280271 ; oboInOwl:hasExactSynonym "PARK18", "parkinson disease 18, autosomal dominant, susceptibility to" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C3280271 ; biolink:category biolink:Disease . OMIM:614252 a owl:Class ; @@ -449657,30 +466356,30 @@ OMIM:614252 a owl:Class ; PMID:21451530 ; RO:0002525 CHR:9606chr8p22 ; RO:0003303 OMIM:11 ; - oboInOwl:hasDbXref UMLS:C3280275 ; oboInOwl:hasExactSynonym "ANIB11", "aneurysm, intracranial berry, 11" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C3280275 ; biolink:category biolink:Disease . OMIM:614256 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 10" ; IAO:0000142 PMID:21376300 ; - oboInOwl:hasDbXref UMLS:C3280284 ; oboInOwl:hasExactSynonym "MRD10", "intellectual developmental disorder, autosomal dominant 10", "mental retardation, autosomal dominant 10" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C3280284 ; biolink:category biolink:Disease . OMIM:614257 a owl:Class ; rdfs:label "chromosome 20q11-q12 deletion syndrome" ; IAO:0000142 PMID:21376300 ; - oboInOwl:hasDbXref UMLS:C3280285 ; oboInOwl:hasExactSynonym "chromosome 20q11-q12 deletion syndrome", "intellectual developmental disorder, autosomal dominant 11", "mental retardation, autosomal dominant 11" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C3280285 ; biolink:category biolink:Disease . OMIM:614261 a owl:Class ; @@ -449689,10 +466388,10 @@ OMIM:614261 a owl:Class ; PMID:21548128, PMID:21815250, PMID:23542699 ; - oboInOwl:hasDbXref UMLS:C3280296, - ORPHA:294016 ; oboInOwl:hasExactSynonym "MICCAP", "microcephaly-capillary malformation syndrome" ; + skos:exactMatch UMLS:C3280296, + ORPHA:294016 ; biolink:category biolink:Disease . OMIM:614265 a owl:Class ; @@ -449701,28 +466400,28 @@ OMIM:614265 a owl:Class ; PMID:7537025, PMID:8869944, PMID:9700595 ; - oboInOwl:hasDbXref UMLS:C3280314 ; oboInOwl:hasExactSynonym "CMAMMA", "combined malonic and methylmalonic aciduria" ; + skos:exactMatch UMLS:C3280314 ; biolink:category biolink:Disease . OMIM:614280 a owl:Class ; rdfs:label "epilepsy, juvenile myoclonic, susceptibility to, 9" ; IAO:0000142 PMID:20467754 ; RO:0002525 CHR:9606chr2q33-q36 ; - oboInOwl:hasDbXref UMLS:C3280332 ; oboInOwl:hasExactSynonym "EJM9", "epilepsy, juvenile myoclonic, susceptibility to, 9" ; rdfs:subClassOf OMIMPS:254770 ; + skos:exactMatch UMLS:C3280332 ; biolink:category biolink:Disease . OMIM:614291 a owl:Class ; rdfs:label "breast-ovarian cancer, familial, susceptibility to, 4" ; IAO:0000142 PMID:21822267 ; - oboInOwl:hasDbXref UMLS:C3280345 ; oboInOwl:hasExactSynonym "BROVCA4", "breast-ovarian cancer, familial, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:604370 ; + skos:exactMatch UMLS:C3280345 ; biolink:category biolink:Disease . OMIM:614292 a owl:Class ; @@ -449730,9 +466429,9 @@ OMIM:614292 a owl:Class ; IAO:0000142 PMID:21885030, PMID:24172257, PMID:25469533 ; - oboInOwl:hasDbXref UMLS:C3280346 ; oboInOwl:hasExactSynonym "MCVD", "myopia, high, with cataract and vitreoretinal degeneration" ; + skos:exactMatch UMLS:C3280346 ; biolink:category biolink:Disease . OMIM:614293 a owl:Class ; @@ -449743,11 +466442,11 @@ OMIM:614293 a owl:Class ; PMID:21885028, PMID:23125094, PMID:23232697 ; - oboInOwl:hasDbXref UMLS:C3280352 ; oboInOwl:hasExactSynonym "HYDM2", "hydatidiform mole, complete", "hydatidiform mole, recurrent, 2" ; rdfs:subClassOf OMIMPS:231090 ; + skos:exactMatch UMLS:C3280352 ; biolink:category biolink:Disease . OMIM:614298 a owl:Class ; @@ -449764,11 +466463,11 @@ OMIM:614298 a owl:Class ; PMID:29395073, PMID:30298423, PMID:31087512 ; - oboInOwl:hasDbXref UMLS:C3280371 ; oboInOwl:hasExactSynonym "NBIA4", "mitochondrial protein-associated neurodegeneration", "neurodegeneration with brain iron accumulation 4" ; rdfs:subClassOf OMIMPS:234200 ; + skos:exactMatch UMLS:C3280371 ; biolink:category biolink:Disease . OMIM:614299 a owl:Class ; @@ -449778,20 +466477,20 @@ OMIM:614299 a owl:Class ; PMID:22562699, PMID:24334290, PMID:30302924 ; - oboInOwl:hasDbXref UMLS:C3280378, - ORPHA:401874 ; oboInOwl:hasExactSynonym "MMDS2", "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" ; rdfs:subClassOf OMIMPS:605711 ; + skos:exactMatch UMLS:C3280378, + ORPHA:401874 ; biolink:category biolink:Disease . OMIM:614302 a owl:Class ; rdfs:label "emery-dreifuss muscular dystrophy 7, autosomal dominant" ; IAO:0000142 PMID:21391237 ; - oboInOwl:hasDbXref UMLS:C3553060 ; oboInOwl:hasExactSynonym "EDMD7", "emery-dreifuss muscular dystrophy 7, autosomal dominant" ; rdfs:subClassOf OMIMPS:310300 ; + skos:exactMatch UMLS:C3553060 ; biolink:category biolink:Disease . OMIM:614303 a owl:Class ; @@ -449804,12 +466503,12 @@ OMIM:614303 a owl:Class ; PMID:22131394, PMID:22371433, PMID:22560093 ; - oboInOwl:hasDbXref UMLS:C3280392 ; oboInOwl:hasExactSynonym "EDICT", "edict syndrome", "endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome", "keratoconus with cataract", "keratoconus, familial, with early-onset anterior polar cataract" ; + skos:exactMatch UMLS:C3280392 ; biolink:category biolink:Disease . OMIM:614305 a owl:Class ; @@ -449818,40 +466517,40 @@ OMIM:614305 a owl:Class ; PMID:11385236, PMID:21471202, PMID:7891385 ; - oboInOwl:hasDbXref UMLS:C3280402 ; oboInOwl:hasExactSynonym "SOST2", "sclerosteosis 2" ; rdfs:subClassOf OMIMPS:269500 ; + skos:exactMatch UMLS:C3280402 ; biolink:category biolink:Disease . OMIM:614317 a owl:Class ; rdfs:label "vesicoureteral reflux 4" ; IAO:0000142 PMID:19690587 ; RO:0002525 CHR:9606chr5q14.2 ; - oboInOwl:hasDbXref UMLS:C3280439 ; oboInOwl:hasExactSynonym "VUR4", "vesicoureteral reflux 4" ; rdfs:subClassOf OMIMPS:193000 ; + skos:exactMatch UMLS:C3280439 ; biolink:category biolink:Disease . OMIM:614318 a owl:Class ; rdfs:label "vesicoureteral reflux 5" ; IAO:0000142 PMID:19690587 ; RO:0002525 CHR:9606chr13q33.2 ; - oboInOwl:hasDbXref UMLS:C3280440 ; oboInOwl:hasExactSynonym "VUR5", "vesicoureteral reflux 5" ; rdfs:subClassOf OMIMPS:193000 ; + skos:exactMatch UMLS:C3280440 ; biolink:category biolink:Disease . OMIM:614319 a owl:Class ; rdfs:label "vesicoureteral reflux 6" ; IAO:0000142 PMID:19690587 ; RO:0002525 CHR:9606chr18q12.3 ; - oboInOwl:hasDbXref UMLS:C3280441 ; oboInOwl:hasExactSynonym "VUR6", "vesicoureteral reflux 6" ; rdfs:subClassOf OMIMPS:193000 ; + skos:exactMatch UMLS:C3280441 ; biolink:category biolink:Disease . OMIM:614320 a owl:Class ; @@ -449860,30 +466559,30 @@ OMIM:614320 a owl:Class ; PMID:25356972, PMID:31157963, PMID:7545954 ; - oboInOwl:hasDbXref UMLS:C3280442 ; oboInOwl:hasExactSynonym "PNCA4", "pancreatic cancer, susceptibility to, 4" ; + skos:exactMatch UMLS:C3280442 ; biolink:category biolink:Disease . OMIM:614322 a owl:Class ; rdfs:label "spinocerebellar ataxia, autosomal recessive 12" ; IAO:0000142 PMID:17470496, PMID:24369382 ; - oboInOwl:hasDbXref UMLS:C3280452, - ORPHA:284282 ; oboInOwl:hasExactSynonym "SCAR12", "spinocerebellar ataxia with mental retardation and epilepsy", "spinocerebellar ataxia, autosomal recessive 12" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C3280452, + ORPHA:284282 ; biolink:category biolink:Disease . OMIM:614324 a owl:Class ; rdfs:label "ovarian dysgenesis 3" ; IAO:0000142 PMID:21963259 ; - oboInOwl:hasDbXref UMLS:C3280471 ; oboInOwl:hasExactSynonym "ODG3", "ovarian dysgenesis 3" ; rdfs:subClassOf OMIMPS:233300 ; + skos:exactMatch UMLS:C3280471 ; biolink:category biolink:Disease . OMIM:614327 a owl:Class ; @@ -449892,29 +466591,29 @@ OMIM:614327 a owl:Class ; PMID:21874003, PMID:21941004, PMID:23684012 ; - oboInOwl:hasDbXref UMLS:C3280492 ; oboInOwl:hasExactSynonym "TPDS", "tumor predisposition syndrome" ; + skos:exactMatch UMLS:C3280492 ; biolink:category biolink:Disease . OMIM:614328 a owl:Class ; rdfs:label "inflammatory skin and bowel disease, neonatal, 1" ; IAO:0000142 PMID:22010916 ; - oboInOwl:hasDbXref UMLS:C3280501 ; oboInOwl:hasExactSynonym "NISBD1", "inflammatory skin and bowel disease, neonatal, 1" ; rdfs:subClassOf OMIMPS:614328 ; + skos:exactMatch UMLS:C3280501 ; biolink:category biolink:Disease . OMIM:614329 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 31" ; IAO:0000142 PMID:21063731 ; RO:0002525 CHR:9606chr4q12-q13.1 ; - oboInOwl:hasDbXref UMLS:C3280523 ; oboInOwl:hasExactSynonym "MRT31", "intellectual developmental disorder, autosomal recessive 31", "mental retardation, autosomal recessive 31" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280523 ; biolink:category biolink:Disease . OMIM:614332 a owl:Class ; @@ -449926,10 +466625,10 @@ OMIM:614332 a owl:Class ; PMID:21424692, PMID:22617343, PMID:23495017 ; - oboInOwl:hasDbXref UMLS:C3280524, - UMLS:C3808494 ; oboInOwl:hasExactSynonym "chromosome 2p16.3 deletion syndrome", "schizophrenia 17" ; + skos:exactMatch UMLS:C3280524, + UMLS:C3808494 ; biolink:category biolink:Disease . OMIM:614333 a owl:Class ; @@ -449937,11 +466636,11 @@ OMIM:614333 a owl:Class ; IAO:0000142 PMID:21063731, PMID:21629298 ; RO:0002525 CHR:9606chr4q27-q28.2 ; - oboInOwl:hasDbXref UMLS:C3280525 ; oboInOwl:hasExactSynonym "MRT29", "intellectual developmental disorder, autosomal recessive 29", "mental retardation, autosomal recessive 29" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280525 ; biolink:category biolink:Disease . OMIM:614338 a owl:Class ; @@ -449959,11 +466658,6 @@ OMIM:614338 a owl:Class ; PMID:6153713, PMID:6714581, PMID:7068048 ; - oboInOwl:hasDbXref UMLS:C0268241, - UMLS:C3280527, - UMLS:C3280528, - UMLS:C3280529, - UMLS:C3280530 ; oboInOwl:hasExactSynonym "PNLIPD", "colipase, congenital absence of pancreatic", "lipase and colipase, congenital absence of pancreatic", @@ -449972,6 +466666,11 @@ OMIM:614338 a owl:Class ; "pancreatic colipase deficiency", "pancreatic lipase deficiency", "pl deficiency" ; + skos:exactMatch UMLS:C0268241, + UMLS:C3280527, + UMLS:C3280528, + UMLS:C3280529, + UMLS:C3280530 ; biolink:category biolink:Disease . OMIM:614340 a owl:Class ; @@ -449980,11 +466679,11 @@ OMIM:614340 a owl:Class ; PMID:21629298, PMID:21937992, PMID:23773660 ; - oboInOwl:hasDbXref UMLS:C3280538 ; oboInOwl:hasExactSynonym "MRT27", "intellectual developmental disorder, autosomal recessive 27", "mental retardation, autosomal recessive 27" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280538 ; biolink:category biolink:Disease . OMIM:614341 a owl:Class ; @@ -449992,76 +466691,76 @@ OMIM:614341 a owl:Class ; IAO:0000142 PMID:21063731, PMID:21937992 ; RO:0002525 CHR:9606chr17p13.2-p13.1 ; - oboInOwl:hasDbXref UMLS:C3280539 ; oboInOwl:hasExactSynonym "MRT33", "intellectual developmental disorder, autosomal recessive 33", "mental retardation, autosomal recessive 33" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280539 ; biolink:category biolink:Disease . OMIM:614342 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 30" ; IAO:0000142 PMID:21629298 ; RO:0002525 CHR:9606chr6q12-q15 ; - oboInOwl:hasDbXref UMLS:C3280540 ; oboInOwl:hasExactSynonym "MRT30", "intellectual developmental disorder, autosomal recessive 30", "mental retardation, autosomal recessive 30" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280540 ; biolink:category biolink:Disease . OMIM:614343 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 19" ; IAO:0000142 PMID:21629298 ; RO:0002525 CHR:9606chr18p11.3 ; - oboInOwl:hasDbXref UMLS:C3280541 ; oboInOwl:hasExactSynonym "MRT19", "intellectual developmental disorder, autosomal recessive 19", "mental retardation, autosomal recessive 19" ; + skos:exactMatch UMLS:C3280541 ; biolink:category biolink:Disease . OMIM:614344 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 23" ; IAO:0000142 PMID:21629298 ; RO:0002525 CHR:9606chr11p13-q14.1 ; - oboInOwl:hasDbXref UMLS:C3280542 ; oboInOwl:hasExactSynonym "MRT23", "intellectual developmental disorder, autosomal recessive 23", "mental retardation, autosomal recessive 23" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280542 ; biolink:category biolink:Disease . OMIM:614345 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 24" ; IAO:0000142 PMID:21629298 ; RO:0002525 CHR:9606chr6p12.2-q12 ; - oboInOwl:hasDbXref UMLS:C3280543 ; oboInOwl:hasExactSynonym "MRT24", "intellectual developmental disorder, autosomal recessive 24", "mental retardation, autosomal recessive 24" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280543 ; biolink:category biolink:Disease . OMIM:614346 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 25" ; IAO:0000142 PMID:21629298 ; RO:0002525 CHR:9606chr12q13.11-q15 ; - oboInOwl:hasDbXref UMLS:C3280544 ; oboInOwl:hasExactSynonym "MRT25", "intellectual developmental disorder, autosomal recessive 25", "mental retardation, autosomal recessive 25" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280544 ; biolink:category biolink:Disease . OMIM:614347 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 28" ; IAO:0000142 PMID:21629298 ; RO:0002525 CHR:9606chr6q26-q27 ; - oboInOwl:hasDbXref UMLS:C3280545 ; oboInOwl:hasExactSynonym "MRT28", "intellectual developmental disorder, autosomal recessive 28", "mental retardation, autosomal recessive 28" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3280545 ; biolink:category biolink:Disease . OMIM:614370 a owl:Class ; @@ -450071,13 +466770,13 @@ OMIM:614370 a owl:Class ; PMID:21205713, PMID:25274301, PMID:9410898 ; - oboInOwl:hasDbXref UMLS:C3280574 ; oboInOwl:hasExactSynonym "SMDP5", "csf2rb deficiency", "pap due to csf2rb deficiency", "pulmonary alveolar proteinosis 5", "surfactant metabolism dysfunction, pulmonary, 5" ; rdfs:subClassOf OMIMPS:265120 ; + skos:exactMatch UMLS:C3280574 ; biolink:category biolink:Disease . OMIM:614372 a owl:Class ; @@ -450101,7 +466800,6 @@ OMIM:614372 a owl:Class ; PMID:9014910, PMID:9154025, PMID:9752823 ; - oboInOwl:hasDbXref UMLS:C3280586 ; oboInOwl:hasExactSynonym "MBLD", "lectin complement activation pathway, defect in, 1", "mannose-binding lectin deficiency", @@ -450110,6 +466808,7 @@ OMIM:614372 a owl:Class ; "mbl2 deficiency", "mbp deficiency" ; rdfs:subClassOf OMIMPS:614372 ; + skos:exactMatch UMLS:C3280586 ; biolink:category biolink:Disease . OMIM:614374 a owl:Class ; @@ -450120,9 +466819,9 @@ OMIM:614374 a owl:Class ; PMID:6016836, PMID:6932037, PMID:968900 ; - oboInOwl:hasDbXref UMLS:C1292315 ; oboInOwl:hasExactSynonym "blood group, chido/rodgers system", "chido/rodgers blood group system" ; + skos:exactMatch UMLS:C1292315 ; biolink:category biolink:Disease . OMIM:614375 a owl:Class ; @@ -450130,10 +466829,10 @@ OMIM:614375 a owl:Class ; IAO:0000142 PMID:22055160 ; RO:0002525 CHR:9606chr12q13.3 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C3280597 ; oboInOwl:hasExactSynonym "AAA4", "aortic aneurysm, familial abdominal, 4" ; rdfs:subClassOf OMIMPS:100070 ; + skos:exactMatch UMLS:C3280597 ; biolink:category biolink:Disease . OMIM:614379 a owl:Class ; @@ -450148,10 +466847,10 @@ OMIM:614379 a owl:Class ; PMID:3265961, PMID:3501712, PMID:7451653 ; - oboInOwl:hasDbXref UMLS:C3280641 ; oboInOwl:hasExactSynonym "C4BD", "c4b deficiency", "complement component 4b deficiency" ; + skos:exactMatch UMLS:C3280641 ; biolink:category biolink:Disease . OMIM:614391 a owl:Class ; @@ -450159,9 +466858,9 @@ OMIM:614391 a owl:Class ; IAO:0000142 PMID:16905025, PMID:17339269, PMID:18303502 ; - oboInOwl:hasDbXref UMLS:C3280674 ; oboInOwl:hasExactSynonym "RPRGL3", "pregnancy loss, recurrent, susceptibility to, 3" ; + skos:exactMatch UMLS:C3280674 ; biolink:category biolink:Disease . OMIM:614399 a owl:Class ; @@ -450170,19 +466869,19 @@ OMIM:614399 a owl:Class ; PMID:18056409, PMID:22101682, PMID:22371254 ; - oboInOwl:hasDbXref UMLS:C3280679, - UMLS:C3541476 ; oboInOwl:hasExactSynonym "EMARDD", "myopathy, areflexia, respiratory distress, and dysphagia, early-onset", "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" ; + skos:exactMatch UMLS:C3280679, + UMLS:C3541476 ; biolink:category biolink:Disease . OMIM:614400 a owl:Class ; rdfs:label "glucocorticoid therapy, response to" ; IAO:0000142 PMID:21991891 ; - oboInOwl:hasDbXref UMLS:C3280689 ; oboInOwl:hasExactSynonym "GCTR", "glucocorticoid therapy, response to" ; + skos:exactMatch UMLS:C3280689 ; biolink:category biolink:Disease . OMIM:614401 a owl:Class ; @@ -450191,18 +466890,18 @@ OMIM:614401 a owl:Class ; PMID:16258005, PMID:17003841, PMID:7606365 ; - oboInOwl:hasDbXref UMLS:C3280690 ; oboInOwl:hasExactSynonym "ACTFS", "accelerated tumor formation, susceptibility to" ; + skos:exactMatch UMLS:C3280690 ; biolink:category biolink:Disease . OMIM:614402 a owl:Class ; rdfs:label "microphthalmia, syndromic 11" ; IAO:0000142 PMID:22095910 ; - oboInOwl:hasDbXref UMLS:C3553077 ; oboInOwl:hasExactSynonym "MCOPS11", "microphthalmia, syndromic 11" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C3553077 ; biolink:category biolink:Disease . OMIM:614409 a owl:Class ; @@ -450213,10 +466912,10 @@ OMIM:614409 a owl:Class ; PMID:23332916, PMID:23332917, PMID:24252062 ; - oboInOwl:hasDbXref UMLS:C2828721 ; oboInOwl:hasExactSynonym "SPG46", "spastic paraplegia 46, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2828721 ; biolink:category biolink:Disease . OMIM:614411 a owl:Class ; @@ -450224,12 +466923,12 @@ OMIM:614411 a owl:Class ; IAO:0000142 PMID:11952783, PMID:17351148, PMID:17566090 ; - oboInOwl:hasDbXref UMLS:C3280715, - UMLS:C3553098 ; oboInOwl:hasExactSynonym "GLYCQTL", "body mass index quantitative trait locus 17", "glycerol quantitative trait locus", "glycerol release during exercise, defective" ; + skos:exactMatch UMLS:C3280715, + UMLS:C3553098 ; biolink:category biolink:Disease . OMIM:614413 a owl:Class ; @@ -450237,7 +466936,6 @@ OMIM:614413 a owl:Class ; IAO:0000142 PMID:14656720, PMID:23010594, PMID:27051 ; - oboInOwl:hasDbXref UMLS:C1540184 ; oboInOwl:hasExactSynonym "ACY3", "aa3", "aminoacylase 3", @@ -450246,65 +466944,67 @@ OMIM:614413 a owl:Class ; "hepatitis c virus core-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:91703 ; - skos:exactMatch HGNC_symbol:ACY3 ; + skos:exactMatch UMLS:C1540184, + HGNC:24104, + HGNC_symbol:ACY3 ; biolink:category biolink:Gene . OMIM:614414 a owl:Class ; rdfs:label "deafness, autosomal recessive 96" ; IAO:0000142 PMID:21937999 ; RO:0002525 CHR:9606chr1p36.31-p36.13 ; - oboInOwl:hasDbXref UMLS:C3888337 ; oboInOwl:hasExactSynonym "DFNB96", "deafness, autosomal recessive 96" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3888337 ; biolink:category biolink:Disease . OMIM:614416 a owl:Class ; rdfs:label "radiohumeral fusions with other skeletal and craniofacial anomalies" ; IAO:0000142 PMID:22019272 ; - oboInOwl:hasDbXref UMLS:C3280729 ; oboInOwl:hasExactSynonym "RHFCA", "radiohumeral fusions with other skeletal and craniofacial anomalies" ; + skos:exactMatch UMLS:C3280729 ; biolink:category biolink:Disease . OMIM:614418 a owl:Class ; rdfs:label "febrile seizures, familial, 11" ; IAO:0000142 PMID:21922598, PMID:8730286 ; - oboInOwl:hasDbXref UMLS:C3280734 ; oboInOwl:hasExactSynonym "FEB11", "convulsions, familial febrile, 11", "febrile seizures, familial, 11" ; rdfs:subClassOf OMIMPS:121210 ; + skos:exactMatch UMLS:C3280734 ; biolink:category biolink:Disease . OMIM:614419 a owl:Class ; rdfs:label "aspartate aminotransferase, serum level of, quantitative trait locus 1" ; IAO:0000142 PMID:21900944 ; - oboInOwl:hasDbXref UMLS:C3280741 ; oboInOwl:hasExactSynonym "aspartate aminotransferase, serum level of, quantitative trait locus 1", "astqtl1" ; + skos:exactMatch UMLS:C3280741 ; biolink:category biolink:Disease . OMIM:614420 a owl:Class ; rdfs:label "systemic lupus erythematosus 16" ; IAO:0000142 PMID:18204446, PMID:22019780 ; - oboInOwl:hasDbXref UMLS:C3280742, - ORPHA:300345 ; oboInOwl:hasExactSynonym "SLEB16", "systemic lupus erythematosus 16" ; + skos:exactMatch UMLS:C3280742, + ORPHA:300345 ; biolink:category biolink:Disease . OMIM:614422 a owl:Class ; rdfs:label "cataract 37" ; IAO:0000142 PMID:21731060 ; RO:0002525 CHR:9606chr12q24.2-q24.3 ; - oboInOwl:hasDbXref UMLS:C3280758 ; oboInOwl:hasExactSynonym "CTRCT37", "cataract 37", "cataract, congenital, cerulean type, 5" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3280758 ; biolink:category biolink:Disease . OMIM:614424 a owl:Class ; @@ -450314,10 +467014,10 @@ OMIM:614424 a owl:Class ; PMID:22152675, PMID:22981120, PMID:7395917 ; - oboInOwl:hasDbXref UMLS:C3280766 ; oboInOwl:hasExactSynonym "JBTS14", "joubert syndrome 14" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C3280766 ; biolink:category biolink:Disease . OMIM:614429 a owl:Class ; @@ -450328,10 +467028,10 @@ OMIM:614429 a owl:Class ; PMID:21544582, PMID:21637914, PMID:22101736 ; - oboInOwl:hasDbXref UMLS:C3280777 ; oboInOwl:hasExactSynonym "VSD1", "ventricular septal defect 1" ; rdfs:subClassOf OMIMPS:614429 ; + skos:exactMatch UMLS:C3280777 ; biolink:category biolink:Disease . OMIM:614431 a owl:Class ; @@ -450339,10 +467039,10 @@ OMIM:614431 a owl:Class ; IAO:0000142 PMID:16287139, PMID:21165553, PMID:21637914 ; - oboInOwl:hasDbXref UMLS:C3280783 ; oboInOwl:hasExactSynonym "VSD2", "ventricular septal defect 2" ; rdfs:subClassOf OMIMPS:614429 ; + skos:exactMatch UMLS:C3280783 ; biolink:category biolink:Disease . OMIM:614432 a owl:Class ; @@ -450351,10 +467051,10 @@ OMIM:614432 a owl:Class ; PMID:21110066, PMID:21165553, PMID:21637914 ; - oboInOwl:hasDbXref UMLS:C3280785 ; oboInOwl:hasExactSynonym "VSD3", "ventricular septal defect 3" ; rdfs:subClassOf OMIMPS:614429 ; + skos:exactMatch UMLS:C3280785 ; biolink:category biolink:Disease . OMIM:614437 a owl:Class ; @@ -450366,10 +467066,10 @@ OMIM:614437 a owl:Class ; PMID:20389311, PMID:22943132, PMID:8985490 ; - oboInOwl:hasDbXref UMLS:C3280798 ; oboInOwl:hasExactSynonym "ARCL1B", "cutis laxa, autosomal recessive, iia 1b" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C3280798 ; biolink:category biolink:Disease . OMIM:614438 a owl:Class ; @@ -450377,11 +467077,11 @@ OMIM:614438 a owl:Class ; IAO:0000142 PMID:19648921, PMID:22052856, PMID:4076251 ; - oboInOwl:hasDbXref UMLS:C3280799 ; oboInOwl:hasExactSynonym "ARCL3B", "cutis laxa, autosomal recessive, iia 3b", "lange barsy syndrome B" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C3280799 ; biolink:category biolink:Disease . OMIM:614441 a owl:Class ; @@ -450391,12 +467091,12 @@ OMIM:614441 a owl:Class ; PMID:22197487, PMID:22331663, PMID:22553128 ; - oboInOwl:hasDbXref UMLS:C3280800 ; oboInOwl:hasExactSynonym "PHOAR2", "hypertrophic osteoarthropathy, primary, autosomal recessive, 2", "pachydermoperiostosis, autosomal recessive", "pdp, autosomal recessive" ; rdfs:subClassOf OMIMPS:259100 ; + skos:exactMatch UMLS:C3280800 ; biolink:category biolink:Disease . OMIM:614450 a owl:Class ; @@ -450404,64 +467104,64 @@ OMIM:614450 a owl:Class ; IAO:0000142 PMID:22168587, PMID:22494134, PMID:25670821 ; - oboInOwl:hasDbXref UMLS:C3280817 ; oboInOwl:hasExactSynonym "CHNG6", "hypothyroidism, congenital, nongoitrous, 6" ; rdfs:subClassOf OMIMPS:275200 ; + skos:exactMatch UMLS:C3280817 ; biolink:category biolink:Disease . OMIM:614456 a owl:Class ; rdfs:label "melanoma, cutaneous malignant, susceptibility to, 8" ; IAO:0000142 PMID:22012259, PMID:22080950 ; - oboInOwl:hasDbXref UMLS:C3152204 ; oboInOwl:hasExactSynonym "CMM8", "melanoma and renal cell carcinoma, susceptibility to", "melanoma, cutaneous malignant, susceptibility to, 8" ; rdfs:subClassOf OMIMPS:155600 ; + skos:exactMatch UMLS:C3152204 ; biolink:category biolink:Disease . OMIM:614458 a owl:Class ; rdfs:label "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" ; IAO:0000142 PMID:22152682 ; - oboInOwl:hasDbXref UMLS:C3280866 ; oboInOwl:hasExactSynonym "THMD5", "encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency", "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" ; rdfs:subClassOf OMIMPS:249270 ; + skos:exactMatch UMLS:C3280866 ; biolink:category biolink:Disease . OMIM:614462 a owl:Class ; rdfs:label "hyperglycinemia, lactic acidosis, and seizures" ; IAO:0000142 PMID:22152680, PMID:24334290 ; - oboInOwl:hasDbXref UMLS:C3280887 ; oboInOwl:hasExactSynonym "HGCLAS", "hyperglycinemia, lactic acidosis, and seizures", "pyruvate dehydrogenase lipoic acid synthetase deficiency" ; rdfs:subClassOf OMIMPS:312170 ; + skos:exactMatch UMLS:C3280887 ; biolink:category biolink:Disease . OMIM:614464 a owl:Class ; rdfs:label "joubert syndrome 15" ; IAO:0000142 PMID:22246503 ; - oboInOwl:hasDbXref UMLS:C3280897, - UMLS:C3280898, - UMLS:C3280899 ; oboInOwl:hasExactSynonym "JBTS15", "joubert syndrome 12/15, digenic", "joubert syndrome 15", "joubert syndrome 9/15, digenic" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C3280897, + UMLS:C3280898, + UMLS:C3280899 ; biolink:category biolink:Disease . OMIM:614465 a owl:Class ; rdfs:label "joubert syndrome 16" ; IAO:0000142 PMID:22282472 ; - oboInOwl:hasDbXref UMLS:C3280906 ; oboInOwl:hasExactSynonym "JBTS16", "joubert syndrome 16" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C3280906 ; biolink:category biolink:Disease . OMIM:614466 a owl:Class ; @@ -450470,42 +467170,42 @@ OMIM:614466 a owl:Class ; PMID:12750310, PMID:2571862, PMID:8662692 ; - oboInOwl:hasDbXref UMLS:C3280913 ; oboInOwl:hasExactSynonym "CHDS6", "coronary heart disease, susceptibility to, 6" ; + skos:exactMatch UMLS:C3280913 ; biolink:category biolink:Disease . OMIM:614468 a owl:Class ; rdfs:label "familial cold autoinflammatory syndrome 3" ; IAO:0000142 PMID:19910034, PMID:22236196 ; - oboInOwl:hasDbXref UMLS:C3280914, - UMLS:C4722480 ; oboInOwl:hasExactSynonym "FCAS3", "antibody deficiency and immune dysregulation, plcg2-associated", "familial atypical cold urticaria", "familial cold autoinflammatory syndrome 3" ; rdfs:subClassOf OMIMPS:120100 ; + skos:exactMatch UMLS:C3280914, + UMLS:C4722480 ; biolink:category biolink:Disease . OMIM:614480 a owl:Class ; rdfs:label "hypertriglyceridemia, transient infantile" ; IAO:0000142 PMID:22226083, PMID:24549054 ; - oboInOwl:hasDbXref UMLS:C3280953 ; oboInOwl:hasExactSynonym "HTGTI", "hypertriglyceridemia, transient infantile" ; + skos:exactMatch UMLS:C3280953 ; biolink:category biolink:Disease . OMIM:614485 a owl:Class ; rdfs:label "trigonocephaly 2" ; IAO:0000142 PMID:18452192, PMID:21931569 ; - oboInOwl:hasDbXref UMLS:C3280974 ; oboInOwl:hasExactSynonym "TRIGNO2", "craniosynostosis, metopic", "trigonocephaly 2" ; rdfs:subClassOf OMIMPS:190440 ; + skos:exactMatch UMLS:C3280974 ; biolink:category biolink:Disease . OMIM:614491 a owl:Class ; @@ -450518,10 +467218,10 @@ OMIM:614491 a owl:Class ; PMID:718349, PMID:9171836, PMID:964728 ; - oboInOwl:hasDbXref UMLS:C1840390 ; oboInOwl:hasExactSynonym "PHA2B", "pseudohypoaldosteronism, iia 2b" ; rdfs:subClassOf OMIMPS:145260 ; + skos:exactMatch UMLS:C1840390 ; biolink:category biolink:Disease . OMIM:614492 a owl:Class ; @@ -450529,20 +467229,20 @@ OMIM:614492 a owl:Class ; IAO:0000142 PMID:10869238, PMID:11498583, PMID:22266938 ; - oboInOwl:hasDbXref UMLS:C1840391 ; oboInOwl:hasExactSynonym "PHA2C", "pseudohypoaldosteronism, iia 2c" ; rdfs:subClassOf OMIMPS:145260 ; + skos:exactMatch UMLS:C1840391 ; biolink:category biolink:Disease . OMIM:614494 a owl:Class ; rdfs:label "retinitis pigmentosa 63" ; IAO:0000142 PMID:22083234 ; RO:0002525 CHR:9606chr6q23 ; - oboInOwl:hasDbXref UMLS:C3281002 ; oboInOwl:hasExactSynonym "RP63", "retinitis pigmentosa 63" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3281002 ; biolink:category biolink:Disease . OMIM:614495 a owl:Class ; @@ -450550,20 +467250,20 @@ OMIM:614495 a owl:Class ; IAO:0000142 PMID:22266938, PMID:22406640, PMID:24821705 ; - oboInOwl:hasDbXref UMLS:C3469605 ; oboInOwl:hasExactSynonym "PHA2D", "familial hyperkalemic hypertension", "pseudohypoaldosteronism, iia 2d" ; rdfs:subClassOf OMIMPS:145260 ; + skos:exactMatch UMLS:C3469605 ; biolink:category biolink:Disease . OMIM:614496 a owl:Class ; rdfs:label "pseudohypoaldosteronism, iia 2e" ; IAO:0000142 PMID:22266938 ; - oboInOwl:hasDbXref UMLS:C3469606 ; oboInOwl:hasExactSynonym "PHA2E", "pseudohypoaldosteronism, iia 2e" ; rdfs:subClassOf OMIMPS:145260 ; + skos:exactMatch UMLS:C3469606 ; biolink:category biolink:Disease . OMIM:614498 a owl:Class ; @@ -450575,20 +467275,20 @@ OMIM:614498 a owl:Class ; PMID:26535877, PMID:27282546, PMID:27282648 ; - oboInOwl:hasDbXref UMLS:C3281029 ; oboInOwl:hasExactSynonym "RMFSL", "rigidity and multifocal seizure syndrome, lethal neonatal" ; + skos:exactMatch UMLS:C3281029 ; biolink:category biolink:Disease . OMIM:614499 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly" ; IAO:0000142 PMID:22279524, PMID:27773430 ; - oboInOwl:hasDbXref UMLS:C3281044 ; oboInOwl:hasExactSynonym "MRT34", "intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly", "mental retardation, autosomal recessive 34, with variant lissencephaly" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3281044 ; biolink:category biolink:Disease . OMIM:614500 a owl:Class ; @@ -450597,42 +467297,42 @@ OMIM:614500 a owl:Class ; PMID:25113443, PMID:25802487, PMID:26865426 ; - oboInOwl:hasDbXref UMLS:C3281045, - UMLS:C3281046 ; oboInOwl:hasExactSynonym "CORD16", "cone-rod dystrophy 16", "retinal dystrophy with early macular involvement", "retinitis pigmentosa 64" ; rdfs:subClassOf OMIMPS:120970, OMIMPS:268000 ; + skos:exactMatch UMLS:C3281045, + UMLS:C3281046 ; biolink:category biolink:Disease . OMIM:614501 a owl:Class ; rdfs:label "neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures" ; IAO:0000142 PMID:22279524 ; - oboInOwl:hasDbXref UMLS:C3281055 ; oboInOwl:hasExactSynonym "NEDHCS", "neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures", "psychomotor retardation, epilepsy, and craniofacial dysmorphism" ; + skos:exactMatch UMLS:C3281055 ; biolink:category biolink:Disease . OMIM:614504 a owl:Class ; rdfs:label "usher syndrome, iia 3b" ; IAO:0000142 PMID:22279524, PMID:8864816 ; - oboInOwl:hasDbXref UMLS:C3281066 ; oboInOwl:hasExactSynonym "USH3B", "usher syndrome, iia 3b" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C3281066 ; biolink:category biolink:Disease . OMIM:614507 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia ir" ; IAO:0000142 PMID:22305527 ; - oboInOwl:hasDbXref UMLS:C3281084 ; oboInOwl:hasExactSynonym "CDG1R", "congenital disorder of glycosylation, iia ir" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C3281084 ; biolink:category biolink:Disease . OMIM:614514 a owl:Class ; @@ -450644,10 +467344,10 @@ OMIM:614514 a owl:Class ; PMID:2935209, PMID:6239877, PMID:7899424 ; - oboInOwl:hasDbXref UMLS:C3281092 ; oboInOwl:hasExactSynonym "THPH6", "thrombophilia due to protein s deficiency, autosomal recessive" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C3281092 ; biolink:category biolink:Disease . OMIM:614546 a owl:Class ; @@ -450657,10 +467357,10 @@ OMIM:614546 a owl:Class ; PMID:20639527, PMID:20860463, PMID:8432525 ; - oboInOwl:hasDbXref UMLS:C3281153, - UMLS:C3281154 ; oboInOwl:hasExactSynonym "efavirenz central nervous system toxicity, susceptibility to", "efavirenz, poor metabolism of" ; + skos:exactMatch UMLS:C3281153, + UMLS:C3281154 ; biolink:category biolink:Disease . OMIM:614557 a owl:Class ; @@ -450669,11 +467369,11 @@ OMIM:614557 a owl:Class ; PMID:24773188, PMID:27149304, PMID:28617417 ; - oboInOwl:hasDbXref UMLS:C3281160 ; oboInOwl:hasExactSynonym "EDSKSCL2", "ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss", "ehlers-danlos syndrome, kyphoscoliotic type, 2" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C3281160 ; biolink:category biolink:Disease . OMIM:614559 a owl:Class ; @@ -450686,10 +467386,10 @@ OMIM:614559 a owl:Class ; PMID:30689204, PMID:31130284, PMID:32519519 ; - oboInOwl:hasDbXref UMLS:C3281192, - ORPHA:313850 ; oboInOwl:hasExactSynonym "ICRD", "infantile cerebellar-retinal degeneration" ; + skos:exactMatch UMLS:C3281192, + ORPHA:313850 ; biolink:category biolink:Disease . OMIM:614561 a owl:Class ; @@ -450698,10 +467398,10 @@ OMIM:614561 a owl:Class ; PMID:22387016, PMID:27571260, PMID:8628470 ; - oboInOwl:hasDbXref UMLS:C3281200 ; oboInOwl:hasExactSynonym "LCC", "labrune syndrome", "leukoencephalopathy, brain calcifications, and cysts" ; + skos:exactMatch UMLS:C3281200 ; biolink:category biolink:Disease . OMIM:614565 a owl:Class ; @@ -450709,11 +467409,11 @@ OMIM:614565 a owl:Class ; IAO:0000142 PMID:22325361, PMID:22325362, PMID:8088964 ; - oboInOwl:hasDbXref UMLS:C3281215 ; oboInOwl:hasExactSynonym "CSNB1E", "csnb, complete, autosomal recessive", "night blindness, congenital stationary, iia 1e" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C3281215 ; biolink:category biolink:Disease . OMIM:614575 a owl:Class ; @@ -450722,20 +467422,20 @@ OMIM:614575 a owl:Class ; PMID:21950986, PMID:30926972, PMID:32851396 ; - oboInOwl:hasDbXref UMLS:C3281223, - ORPHA:504476 ; oboInOwl:hasExactSynonym "CANVAS", "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" ; + skos:exactMatch UMLS:C3281223, + ORPHA:504476 ; biolink:category biolink:Disease . OMIM:614582 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 9" ; IAO:0000142 PMID:21786366, PMID:27815843 ; - oboInOwl:hasDbXref UMLS:C3281234 ; oboInOwl:hasExactSynonym "COXPD9", "combined oxidative phosphorylation deficiency 9" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3281234 ; biolink:category biolink:Disease . OMIM:614588 a owl:Class ; @@ -450743,10 +467443,10 @@ OMIM:614588 a owl:Class ; IAO:0000142 PMID:21301909, PMID:3400518 ; RO:0002525 CHR:9606chr2q14.3-q21.3 ; - oboInOwl:hasDbXref UMLS:C3281236 ; oboInOwl:hasExactSynonym "DYT21", "dystonia 21" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C3281236 ; biolink:category biolink:Disease . OMIM:614590 a owl:Class ; @@ -450758,12 +467458,12 @@ OMIM:614590 a owl:Class ; PMID:4670473, PMID:6464174 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C3281245 ; oboInOwl:hasExactSynonym "PDCOS", "endemic nonfilarial elephantiasis, susceptibility to", "lymphostatic verrucosis, susceptibility to", "nonfilarial elephantiasis of lower legs, susceptibility to", "podoconiosis, susceptibility to" ; + skos:exactMatch UMLS:C3281245 ; biolink:category biolink:Disease . OMIM:614594 a owl:Class ; @@ -450776,30 +467476,30 @@ OMIM:614594 a owl:Class ; PMID:24452206, PMID:3161912, PMID:6232300 ; - oboInOwl:hasDbXref UMLS:C2609071 ; oboInOwl:hasExactSynonym "OLMS1", "olmsted syndrome 1", "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1" ; rdfs:subClassOf OMIMPS:614594 ; + skos:exactMatch UMLS:C2609071 ; biolink:category biolink:Disease . OMIM:614595 a owl:Class ; rdfs:label "preeclampsia/eclampsia 5" ; IAO:0000142 PMID:22437503 ; - oboInOwl:hasDbXref UMLS:C3281288 ; oboInOwl:hasExactSynonym "PEE5", "preeclampsia/eclampsia 5" ; rdfs:subClassOf OMIMPS:189800 ; + skos:exactMatch UMLS:C3281288 ; biolink:category biolink:Disease . OMIM:614602 a owl:Class ; rdfs:label "trichohepatoenteric syndrome 2" ; IAO:0000142 PMID:18982349, PMID:22444670 ; - oboInOwl:hasDbXref UMLS:C3281289 ; oboInOwl:hasExactSynonym "THES2", "trichohepatoenteric syndrome 2" ; rdfs:subClassOf OMIMPS:222470 ; + skos:exactMatch UMLS:C3281289 ; biolink:category biolink:Disease . OMIM:614607 a owl:Class ; @@ -450810,14 +467510,14 @@ OMIM:614607 a owl:Class ; PMID:23929686, PMID:25168959, PMID:27906199 ; - oboInOwl:hasDbXref UMLS:C3553247, - UMLS:C4749148 ; oboInOwl:hasExactSynonym "CSS2", "chromosome 1p36.11 duplication syndrome", "coffin-siris syndrome 2", "mental retardation, autosomal dominant 14" ; rdfs:subClassOf OMIMPS:135900, OMIMPS:156200 ; + skos:exactMatch UMLS:C3553247, + UMLS:C4749148 ; biolink:category biolink:Disease . OMIM:614613 a owl:Class ; @@ -450827,38 +467527,38 @@ OMIM:614613 a owl:Class ; PMID:22464252, PMID:23033274, PMID:24203977 ; - oboInOwl:hasDbXref UMLS:C3553250 ; oboInOwl:hasExactSynonym "ACRDYS2", "acrodysostosis 2 with or without hormone resistance" ; rdfs:subClassOf OMIMPS:101800 ; + skos:exactMatch UMLS:C3553250 ; biolink:category biolink:Disease . OMIM:614618 a owl:Class ; rdfs:label "hyperekplexia 3" ; IAO:0000142 PMID:16751771 ; - oboInOwl:hasDbXref UMLS:C3553288 ; oboInOwl:hasExactSynonym "HKPX3", "hyperekplexia 3" ; rdfs:subClassOf OMIMPS:149400 ; + skos:exactMatch UMLS:C3553288 ; biolink:category biolink:Disease . OMIM:614619 a owl:Class ; rdfs:label "hyperekplexia 2" ; IAO:0000142 PMID:11929858, PMID:21391991 ; - oboInOwl:hasDbXref UMLS:C3553291 ; oboInOwl:hasExactSynonym "HKPX2", "hyperekplexia 2" ; rdfs:subClassOf OMIMPS:149400 ; + skos:exactMatch UMLS:C3553291 ; biolink:category biolink:Disease . OMIM:614621 a owl:Class ; rdfs:label "uv-sensitive syndrome 2" ; IAO:0000142 PMID:19329487 ; - oboInOwl:hasDbXref UMLS:C3553298 ; oboInOwl:hasExactSynonym "UVSS2", "uv-sensitive syndrome 2" ; rdfs:subClassOf OMIMPS:600630 ; + skos:exactMatch UMLS:C3553298 ; biolink:category biolink:Disease . OMIM:614622 a owl:Class ; @@ -450866,30 +467566,30 @@ OMIM:614622 a owl:Class ; IAO:0000142 PMID:1358551, PMID:16024971 ; RO:0002525 CHR:9606chr5q14.1-q21.3 ; - oboInOwl:hasDbXref UMLS:C3553302 ; oboInOwl:hasExactSynonym "KTCN5", "keratoconus 5" ; rdfs:subClassOf OMIMPS:148300 ; + skos:exactMatch UMLS:C3553302 ; biolink:category biolink:Disease . OMIM:614623 a owl:Class ; rdfs:label "keratoconus 6" ; IAO:0000142 PMID:16936089 ; RO:0002525 CHR:9606chr9q34 ; - oboInOwl:hasDbXref UMLS:C3553306 ; oboInOwl:hasExactSynonym "KTCN6", "keratoconus 6" ; rdfs:subClassOf OMIMPS:148300 ; + skos:exactMatch UMLS:C3553306 ; biolink:category biolink:Disease . OMIM:614628 a owl:Class ; rdfs:label "keratoconus 8" ; IAO:0000142 PMID:20837804 ; RO:0002525 CHR:9606chr14q24.3 ; - oboInOwl:hasDbXref UMLS:C3553307 ; oboInOwl:hasExactSynonym "KTCN8", "keratoconus 8" ; rdfs:subClassOf OMIMPS:148300 ; + skos:exactMatch UMLS:C3553307 ; biolink:category biolink:Disease . OMIM:614629 a owl:Class ; @@ -450898,10 +467598,10 @@ OMIM:614629 a owl:Class ; PMID:22045297, PMID:26641546 ; RO:0002525 CHR:9606chr13q32 ; - oboInOwl:hasDbXref UMLS:C3553308 ; oboInOwl:hasExactSynonym "KTCN7", "keratoconus 7" ; rdfs:subClassOf OMIMPS:148300 ; + skos:exactMatch UMLS:C3553308 ; biolink:category biolink:Disease . OMIM:614640 a owl:Class ; @@ -450915,66 +467615,66 @@ OMIM:614640 a owl:Class ; PMID:7513056, PMID:7539208, PMID:8763445 ; - oboInOwl:hasDbXref UMLS:C3553328 ; oboInOwl:hasExactSynonym "UVSS3", "uv-sensitive syndrome 3" ; rdfs:subClassOf OMIMPS:600630 ; + skos:exactMatch UMLS:C3553328 ; biolink:category biolink:Disease . OMIM:614644 a owl:Class ; rdfs:label "mean platelet volume/count quantitative trait locus 4" ; IAO:0000142 PMID:22139419 ; RO:0002525 CHR:9606chr6p21.3-p21.2 ; - oboInOwl:hasDbXref UMLS:C3553339 ; oboInOwl:hasExactSynonym "MPVCQTL4", "mean platelet volume/count quantitative trait locus 4" ; + skos:exactMatch UMLS:C3553339 ; biolink:category biolink:Disease . OMIM:614645 a owl:Class ; rdfs:label "mean platelet volume/count quantitative trait locus 5" ; IAO:0000142 PMID:22139419 ; RO:0002525 CHR:9606chr6q23.3 ; - oboInOwl:hasDbXref UMLS:C3553340 ; oboInOwl:hasExactSynonym "MPVCQTL5", "mean platelet volume/count quantitative trait locus 5" ; + skos:exactMatch UMLS:C3553340 ; biolink:category biolink:Disease . OMIM:614646 a owl:Class ; rdfs:label "mean platelet volume/count quantitative trait locus 6" ; IAO:0000142 PMID:22139419 ; RO:0002525 CHR:9606chr7q22.3 ; - oboInOwl:hasDbXref UMLS:C3553341 ; oboInOwl:hasExactSynonym "MPVCQTL6", "mean platelet volume/count quantitative trait locus 6" ; + skos:exactMatch UMLS:C3553341 ; biolink:category biolink:Disease . OMIM:614650 a owl:Class ; rdfs:label "coenzyme Q10 deficiency, primary, 6" ; IAO:0000142 PMID:21540551, PMID:28117207 ; - oboInOwl:hasDbXref UMLS:C3553349, - ORPHA:280406 ; oboInOwl:hasExactSynonym "COQ10D6", "coenzyme Q10 deficiency, primary, 6" ; rdfs:subClassOf OMIMPS:607426 ; + skos:exactMatch UMLS:C3553349, + ORPHA:280406 ; biolink:category biolink:Disease . OMIM:614651 a owl:Class ; rdfs:label "coenzyme Q10 deficiency, primary, 2" ; IAO:0000142 PMID:17332895 ; - oboInOwl:hasDbXref UMLS:C3553354 ; oboInOwl:hasExactSynonym "COQ10D2", "coenzyme Q10 deficiency, primary, 2" ; rdfs:subClassOf OMIMPS:607426 ; + skos:exactMatch UMLS:C3553354 ; biolink:category biolink:Disease . OMIM:614652 a owl:Class ; rdfs:label "coenzyme Q10 deficiency, primary, 3" ; IAO:0000142 PMID:17186472 ; - oboInOwl:hasDbXref UMLS:C3553358 ; oboInOwl:hasExactSynonym "COQ10D3", "coenzyme Q10 deficiency, primary, 3" ; rdfs:subClassOf OMIMPS:607426 ; + skos:exactMatch UMLS:C3553358 ; biolink:category biolink:Disease . OMIM:614654 a owl:Class ; @@ -450983,10 +467683,10 @@ OMIM:614654 a owl:Class ; PMID:19375058, PMID:23255162, PMID:26081641 ; - oboInOwl:hasDbXref UMLS:C3553374 ; oboInOwl:hasExactSynonym "COQ10D5", "coenzyme Q10 deficiency, primary, 5" ; rdfs:subClassOf OMIMPS:607426 ; + skos:exactMatch UMLS:C3553374 ; biolink:category biolink:Disease . OMIM:614655 a owl:Class ; @@ -450994,27 +467694,27 @@ OMIM:614655 a owl:Class ; IAO:0000142 PMID:20706738 ; RO:0002525 CHR:9606chr3q13.2-q13.33 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C3553381 ; oboInOwl:hasExactSynonym "STUT3", "stuttering, familial persistent, 3" ; rdfs:subClassOf OMIMPS:184450 ; + skos:exactMatch UMLS:C3553381 ; biolink:category biolink:Disease . OMIM:614662 a owl:Class ; rdfs:label "cortisone reductase deficiency 2" ; IAO:0000142 PMID:21325058 ; - oboInOwl:hasDbXref UMLS:C3553382 ; oboInOwl:hasExactSynonym "CORTRD2", "cortisone reductase deficiency 2" ; rdfs:subClassOf OMIMPS:604931 ; + skos:exactMatch UMLS:C3553382 ; biolink:category biolink:Disease . OMIM:614665 a owl:Class ; rdfs:label "meconium ileus" ; IAO:0000142 PMID:22521417, PMID:4006357 ; - oboInOwl:hasDbXref UMLS:C2939175 ; oboInOwl:hasExactSynonym "meconium ileus" ; + skos:exactMatch UMLS:C2939175 ; biolink:category biolink:Disease . OMIM:614668 a owl:Class ; @@ -451023,10 +467723,10 @@ OMIM:614668 a owl:Class ; PMID:22205390 ; RO:0002525 CHR:9606chr16q12.1-q23.1 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C3553403 ; oboInOwl:hasExactSynonym "STUT4", "stuttering, familial persistent, 4" ; rdfs:subClassOf OMIMPS:184450 ; + skos:exactMatch UMLS:C3553403 ; biolink:category biolink:Disease . OMIM:614669 a owl:Class ; @@ -451039,29 +467739,29 @@ OMIM:614669 a owl:Class ; PMID:22286465, PMID:22560091, PMID:23315542 ; - oboInOwl:hasDbXref UMLS:C3553404 ; oboInOwl:hasExactSynonym "ARCND2", "auriculocondylar syndrome 2" ; rdfs:subClassOf OMIMPS:602483 ; + skos:exactMatch UMLS:C3553404 ; biolink:category biolink:Disease . OMIM:614672 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 2b" ; IAO:0000142 PMID:21965549 ; - oboInOwl:hasDbXref UMLS:C3553409 ; oboInOwl:hasExactSynonym "CMD2B", "cardiomyopathy, dilated, 2b" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C3553409 ; biolink:category biolink:Disease . OMIM:614673 a owl:Class ; rdfs:label "microcephaly 8, primary, autosomal recessive" ; IAO:0000142 PMID:22521416, PMID:26657937 ; - oboInOwl:hasDbXref UMLS:C3553414 ; oboInOwl:hasExactSynonym "MCPH8", "microcephaly 8, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C3553414 ; biolink:category biolink:Disease . OMIM:614674 a owl:Class ; @@ -451070,18 +467770,18 @@ OMIM:614674 a owl:Class ; PMID:21501330, PMID:21990073, PMID:7684743 ; - oboInOwl:hasDbXref UMLS:C3553418 ; oboInOwl:hasExactSynonym "periodic fever, menstrual cycle-dependent" ; + skos:exactMatch UMLS:C3553418 ; biolink:category biolink:Disease . OMIM:614675 a owl:Class ; rdfs:label "bone marrow failure syndrome 1" ; IAO:0000142 PMID:22541560 ; - oboInOwl:hasDbXref UMLS:C3808553, - ORPHA:314399 ; oboInOwl:hasExactSynonym "BMFS1", "bone marrow failure syndrome 1" ; rdfs:subClassOf OMIMPS:614675 ; + skos:exactMatch UMLS:C3808553, + ORPHA:314399 ; biolink:category biolink:Disease . OMIM:614676 a owl:Class ; @@ -451089,10 +467789,10 @@ OMIM:614676 a owl:Class ; IAO:0000142 PMID:16651466 ; RO:0002525 CHR:9606chr7p12.1-q21 ; RO:0003303 OMIM:21 ; - oboInOwl:hasDbXref UMLS:C3553442 ; oboInOwl:hasExactSynonym "CMH21", "cardiomyopathy, familial hypertrophic, 21" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C3553442 ; biolink:category biolink:Disease . OMIM:614678 a owl:Class ; @@ -451107,38 +467807,38 @@ OMIM:614678 a owl:Class ; PMID:23975261, PMID:24524299, PMID:25149867 ; - oboInOwl:hasDbXref UMLS:C3553449 ; oboInOwl:hasExactSynonym "PCH1B", "pontocerebellar hypoplasia, iia 1b" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C3553449 ; biolink:category biolink:Disease . OMIM:614679 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 17" ; IAO:0000142 PMID:19720631, PMID:22581229 ; - oboInOwl:hasDbXref UMLS:C3542550 ; oboInOwl:hasExactSynonym "CILD17", "ciliary dyskinesia, primary, 17", "ciliary dyskinesia, primary, 17, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3542550 ; biolink:category biolink:Disease . OMIM:614680 a owl:Class ; rdfs:label "influenza, severe, susceptibility to" ; IAO:0000142 PMID:20943977, PMID:22446628 ; - oboInOwl:hasDbXref UMLS:C3553462 ; oboInOwl:hasExactSynonym "influenza, severe, susceptibility to" ; + skos:exactMatch UMLS:C3553462 ; biolink:category biolink:Disease . OMIM:614689 a owl:Class ; rdfs:label "soluble interleukin-6 receptor, serum level of, quantitative trait locus" ; IAO:0000142 PMID:15306846, PMID:17357077 ; - oboInOwl:hasDbXref UMLS:C3553493 ; oboInOwl:hasExactSynonym "soluble il6r, serum level of, quantitative trait locus", "soluble interleukin-6 receptor, serum level of, quantitative trait locus" ; + skos:exactMatch UMLS:C3553493 ; biolink:category biolink:Disease . OMIM:614692 a owl:Class ; @@ -451150,9 +467850,9 @@ OMIM:614692 a owl:Class ; PMID:25394321, PMID:6439290 ; RO:0002525 CHR:9606chr6p21.3 ; - oboInOwl:hasDbXref UMLS:C3553496 ; oboInOwl:hasExactSynonym "MBNP", "membranous nephropathy, susceptibility to" ; + skos:exactMatch UMLS:C3553496 ; biolink:category biolink:Disease . OMIM:614700 a owl:Class ; @@ -451162,10 +467862,10 @@ OMIM:614700 a owl:Class ; PMID:22981790, PMID:25468195, PMID:26206937 ; - oboInOwl:hasDbXref UMLS:C3553512 ; oboInOwl:hasExactSynonym "CVID8", "immunodeficiency, common variable, 8, with autoimmunity" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C3553512 ; biolink:category biolink:Disease . OMIM:614701 a owl:Class ; @@ -451180,11 +467880,11 @@ OMIM:614701 a owl:Class ; PMID:31334757, PMID:32193685, PMID:32696056 ; - oboInOwl:hasDbXref UMLS:C3553517, - ORPHA:199 ; oboInOwl:hasExactSynonym "CDLS4", "cornelia lange lange syndrome 4 with or without midline brain defects" ; rdfs:subClassOf OMIMPS:122470 ; + skos:exactMatch UMLS:C3553517, + ORPHA:199 ; biolink:category biolink:Disease . OMIM:614702 a owl:Class ; @@ -451192,12 +467892,12 @@ OMIM:614702 a owl:Class ; IAO:0000142 PMID:22608499, PMID:23929671, PMID:29331171 ; - oboInOwl:hasDbXref UMLS:C3553529, - ORPHA:314637 ; oboInOwl:hasExactSynonym "COXPD10", "cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis", "combined oxidative phosphorylation deficiency 10" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3553529, + ORPHA:314637 ; biolink:category biolink:Disease . OMIM:614707 a owl:Class ; @@ -451208,12 +467908,12 @@ OMIM:614707 a owl:Class ; PMID:23243084, PMID:24253200, PMID:30343981 ; - oboInOwl:hasDbXref UMLS:C3553538, - ORPHA:572550, - ORPHA:97229 ; oboInOwl:hasExactSynonym "BVVLS2", "brown-vialetto-van laere syndrome 2" ; rdfs:subClassOf OMIMPS:211530 ; + skos:exactMatch UMLS:C3553538, + ORPHA:572550, + ORPHA:97229 ; biolink:category biolink:Disease . OMIM:614714 a owl:Class ; @@ -451223,10 +467923,10 @@ OMIM:614714 a owl:Class ; PMID:22983302, PMID:26202976, PMID:9188872 ; - oboInOwl:hasDbXref UMLS:C3553549 ; oboInOwl:hasExactSynonym "POROK7", "porokeratosis 7, multiple types" ; rdfs:subClassOf OMIMPS:175800 ; + skos:exactMatch UMLS:C3553549 ; biolink:category biolink:Disease . OMIM:614723 a owl:Class ; @@ -451269,33 +467969,33 @@ OMIM:614723 a owl:Class ; PMID:8825602, PMID:9298830, PMID:9521589 ; - oboInOwl:hasDbXref UMLS:C0268120 ; oboInOwl:hasExactSynonym "APRTD", "adenine phosphoribosyltransferase deficiency", "aprt deficiency", "nephrolithiasis, dha", "urolithiasis, 2,8-dihydroxyadenine", "urolithiasis, dha" ; + skos:exactMatch UMLS:C0268120 ; biolink:category biolink:Disease . OMIM:614727 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iik" ; IAO:0000142 PMID:22683087, PMID:23430531 ; - oboInOwl:hasDbXref UMLS:C3553571 ; oboInOwl:hasExactSynonym "CDG2K", "cdg iik", "congenital disorder of glycosylation, iia iik" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C3553571 ; biolink:category biolink:Disease . OMIM:614728 a owl:Class ; rdfs:label "seckel syndrome 6" ; IAO:0000142 PMID:21983783 ; - oboInOwl:hasDbXref UMLS:C3553582 ; oboInOwl:hasExactSynonym "SCKL6", "seckel syndrome 6" ; rdfs:subClassOf OMIMPS:210600 ; + skos:exactMatch UMLS:C3553582 ; biolink:category biolink:Disease . OMIM:614731 a owl:Class ; @@ -451307,9 +468007,9 @@ OMIM:614731 a owl:Class ; PMID:11522646, PMID:12384782, PMID:12515253 ; - oboInOwl:hasDbXref UMLS:C3539120 ; oboInOwl:hasExactSynonym "HPC2", "prostate cancer, hereditary, 2" ; + skos:exactMatch UMLS:C3539120 ; biolink:category biolink:Disease . OMIM:614736 a owl:Class ; @@ -451319,10 +468019,10 @@ OMIM:614736 a owl:Class ; PMID:25879317, PMID:26070314, PMID:27129361 ; - oboInOwl:hasDbXref UMLS:C3553587 ; oboInOwl:hasExactSynonym "GCCD4", "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" ; rdfs:subClassOf OMIMPS:202200 ; + skos:exactMatch UMLS:C3553587 ; biolink:category biolink:Disease . OMIM:614739 a owl:Class ; @@ -451334,21 +468034,21 @@ OMIM:614739 a owl:Class ; PMID:23918762, PMID:28916646, PMID:29205472 ; - oboInOwl:hasDbXref UMLS:C3553597 ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome", "3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and leigh-like syndrome", "3-methylglutaconic aciduria, iia 6", "MEGDEL" ; rdfs:subClassOf OMIMPS:250950 ; + skos:exactMatch UMLS:C3553597 ; biolink:category biolink:Disease . OMIM:614741 a owl:Class ; rdfs:label "mitochondrial pyruvate carrier deficiency" ; IAO:0000142 PMID:12649063, PMID:22628558 ; - oboInOwl:hasDbXref UMLS:C3553607 ; oboInOwl:hasExactSynonym "MPYCD", "mitochondrial pyruvate carrier deficiency" ; + skos:exactMatch UMLS:C3553607 ; biolink:category biolink:Disease . OMIM:614743 a owl:Class ; @@ -451361,10 +468061,10 @@ OMIM:614743 a owl:Class ; PMID:19760749, PMID:21436073, PMID:9572992 ; - oboInOwl:hasDbXref UMLS:C3553622 ; oboInOwl:hasExactSynonym "PFBMFT2", "pulmonary fibrosis and/or bone marrow failure, telomere-related, 2" ; rdfs:subClassOf OMIMPS:614742 ; + skos:exactMatch UMLS:C3553622 ; biolink:category biolink:Disease . OMIM:614744 a owl:Class ; @@ -451374,10 +468074,10 @@ OMIM:614744 a owl:Class ; PMID:27144914, PMID:8898234, PMID:8967950 ; - oboInOwl:hasDbXref UMLS:C3553625 ; oboInOwl:hasExactSynonym "HCFP3", "facial paresis, hereditary congenital, 3" ; rdfs:subClassOf OMIMPS:601471 ; + skos:exactMatch UMLS:C3553625 ; biolink:category biolink:Disease . OMIM:614745 a owl:Class ; @@ -451385,92 +468085,92 @@ OMIM:614745 a owl:Class ; IAO:0000142 PMID:17207242, PMID:20854351, PMID:9721204 ; - oboInOwl:hasDbXref UMLS:C3553633 ; oboInOwl:hasExactSynonym "JMH", "blood group, john milton hagen system", "jmh blood group system", "john milton hagen blood group system" ; + skos:exactMatch UMLS:C3553633 ; biolink:category biolink:Disease . OMIM:614746 a owl:Class ; rdfs:label "uric acid concentration, serum, quantitative trait locus 5" ; IAO:0000142 PMID:21983786 ; RO:0002525 CHR:9606chr19q13 ; - oboInOwl:hasDbXref UMLS:C3553634 ; oboInOwl:hasExactSynonym "UAQTL5", "uric acid concentration, serum, quantitative trait locus 5" ; + skos:exactMatch UMLS:C3553634 ; biolink:category biolink:Disease . OMIM:614747 a owl:Class ; rdfs:label "uric acid concentration, serum, quantitative trait locus 6" ; IAO:0000142 PMID:21983786 ; RO:0002525 CHR:9606chr1q21.1 ; - oboInOwl:hasDbXref UMLS:C3553635 ; oboInOwl:hasExactSynonym "UAQTL6", "uric acid concentration, serum, quantitative trait locus 6" ; + skos:exactMatch UMLS:C3553635 ; biolink:category biolink:Disease . OMIM:614748 a owl:Class ; rdfs:label "epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome" ; IAO:0000142 PMID:22512483, PMID:25810266 ; - oboInOwl:hasDbXref UMLS:C3553636 ; oboInOwl:hasExactSynonym "JEB7", "epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome", "interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" ; rdfs:subClassOf OMIMPS:226650 ; + skos:exactMatch UMLS:C3553636 ; biolink:category biolink:Disease . OMIM:614749 a owl:Class ; rdfs:label "hyperphosphatasia with mental retardation syndrome 2" ; IAO:0000142 PMID:22683086 ; - oboInOwl:hasDbXref UMLS:C3553637 ; oboInOwl:hasExactSynonym "HPMRS2", "glycosylphosphatidylinositol biosynthesis defect 6", "hyperphosphatasia with mental retardation syndrome 2" ; rdfs:subClassOf OMIMPS:239300 ; + skos:exactMatch UMLS:C3553637 ; biolink:category biolink:Disease . OMIM:614750 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 13" ; IAO:0000142 PMID:16870884, PMID:22742743 ; - oboInOwl:hasDbXref UMLS:C3553645 ; oboInOwl:hasExactSynonym "CMS13", "myasthenic syndrome, congenital, 13", "myasthenic syndrome, congenital, with tubular aggregates 2" ; rdfs:subClassOf OMIMPS:601462, OMIMPS:610542 ; + skos:exactMatch UMLS:C3553645 ; biolink:category biolink:Disease . OMIM:614756 a owl:Class ; rdfs:label "cerebellar dysfunction with variable cognitive and behavioral abnormalities" ; IAO:0000142 PMID:22693284, PMID:24738973 ; - oboInOwl:hasDbXref UMLS:C3553661, - ORPHA:314647 ; oboInOwl:hasExactSynonym "CECBA", "cerebellar ataxia, nonprogressive, with mental retardation", "cerebellar dysfunction with variable cognitive and behavioral abnormalities" ; + skos:exactMatch UMLS:C3553661, + ORPHA:314647 ; biolink:category biolink:Disease . OMIM:614779 a owl:Class ; rdfs:label "heterotaxy, visceral, 6, autosomal" ; IAO:0000142 PMID:22577226, PMID:25504577 ; - oboInOwl:hasDbXref UMLS:C3553676 ; oboInOwl:hasExactSynonym "HTX6", "heterotaxy, visceral, 6, autosomal" ; rdfs:subClassOf OMIMPS:306955 ; + skos:exactMatch UMLS:C3553676 ; biolink:category biolink:Disease . OMIM:614782 a owl:Class ; rdfs:label "tremor, hereditary essential, 4" ; IAO:0000142 PMID:22863194 ; - oboInOwl:hasDbXref UMLS:C3539195 ; oboInOwl:hasExactSynonym "ETM4", "tremor, hereditary essential, 4" ; rdfs:subClassOf OMIMPS:190300 ; + skos:exactMatch UMLS:C3539195 ; biolink:category biolink:Disease . OMIM:614800 a owl:Class ; @@ -451478,28 +468178,28 @@ OMIM:614800 a owl:Class ; IAO:0000142 PMID:14964842, PMID:15612572, PMID:20577004 ; - oboInOwl:hasDbXref UMLS:C3541319 ; oboInOwl:hasExactSynonym "SOPH", "short stature, optic nerve atrophy, and pelger-huet anomaly", "soph syndrome" ; + skos:exactMatch UMLS:C3541319 ; biolink:category biolink:Disease . OMIM:614807 a owl:Class ; rdfs:label "myopathy, centronuclear, 4" ; IAO:0000142 PMID:22818856 ; - oboInOwl:hasDbXref UMLS:C3553709 ; oboInOwl:hasExactSynonym "CNM4", "myopathy, centronuclear, 4" ; rdfs:subClassOf OMIMPS:160150 ; + skos:exactMatch UMLS:C3553709 ; biolink:category biolink:Disease . OMIM:614808 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 18" ; IAO:0000142 PMID:22801503 ; - oboInOwl:hasDbXref UMLS:C3553719 ; oboInOwl:hasExactSynonym "ALS18", "amyotrophic lateral sclerosis 18" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C3553719 ; biolink:category biolink:Disease . OMIM:614809 a owl:Class ; @@ -451507,10 +468207,10 @@ OMIM:614809 a owl:Class ; IAO:0000142 PMID:20800271, PMID:20800272, PMID:22503529 ; - oboInOwl:hasDbXref UMLS:C3553720 ; oboInOwl:hasExactSynonym "C3G3", "c3 glomerulopathy 3", "cfhr5 nephropathy" ; + skos:exactMatch UMLS:C3553720 ; biolink:category biolink:Disease . OMIM:614810 a owl:Class ; @@ -451518,10 +468218,10 @@ OMIM:614810 a owl:Class ; IAO:0000142 PMID:11436128, PMID:19525953, PMID:22801493 ; - oboInOwl:hasDbXref UMLS:C3553728 ; oboInOwl:hasExactSynonym "MS5", "multiple sclerosis, susceptibility to, 5" ; rdfs:subClassOf OMIMPS:126200 ; + skos:exactMatch UMLS:C3553728 ; biolink:category biolink:Disease . OMIM:614813 a owl:Class ; @@ -451530,19 +468230,19 @@ OMIM:614813 a owl:Class ; PMID:22440536, PMID:22840363, PMID:22840364 ; - oboInOwl:hasDbXref UMLS:C3542022 ; oboInOwl:hasExactSynonym "SOFT", "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis", "soft syndrome" ; + skos:exactMatch UMLS:C3542022 ; biolink:category biolink:Disease . OMIM:614814 a owl:Class ; rdfs:label "adams-oliver syndrome 3" ; IAO:0000142 PMID:22883147 ; - oboInOwl:hasDbXref UMLS:C3553748 ; oboInOwl:hasExactSynonym "AOS3", "adams-oliver syndrome 3" ; rdfs:subClassOf OMIMPS:100300 ; + skos:exactMatch UMLS:C3553748 ; biolink:category biolink:Disease . OMIM:614816 a owl:Class ; @@ -451550,11 +468250,11 @@ OMIM:614816 a owl:Class ; IAO:0000142 PMID:22772368, PMID:22772371, PMID:25046559 ; - oboInOwl:hasDbXref UMLS:C3553762 ; oboInOwl:hasExactSynonym "LDS4", "aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations", "loeys-dietz syndrome 4" ; rdfs:subClassOf OMIMPS:609192 ; + skos:exactMatch UMLS:C3553762 ; biolink:category biolink:Disease . OMIM:614817 a owl:Class ; @@ -451566,21 +468266,21 @@ OMIM:614817 a owl:Class ; PMID:22772369, PMID:7847351, PMID:8546134 ; - oboInOwl:hasDbXref UMLS:C3553774, - ORPHA:401996 ; oboInOwl:hasExactSynonym "KMIN", "interstitial nephritis, karyomegalic" ; + skos:exactMatch UMLS:C3553774, + ORPHA:401996 ; biolink:category biolink:Disease . OMIM:614822 a owl:Class ; rdfs:label "spermatogenic failure 10" ; IAO:0000142 PMID:22275165, PMID:22479503 ; - oboInOwl:hasDbXref UMLS:C3553793 ; oboInOwl:hasExactSynonym "SPGF10", "spermatogenic failure 10", "spermatogenic failure with defective sperm annulus" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C3553793 ; biolink:category biolink:Disease . OMIM:614826 a owl:Class ; @@ -451590,10 +468290,10 @@ OMIM:614826 a owl:Class ; PMID:22065086, PMID:22914672 ; RO:0002525 CHR:9606chr1q31.3-q32.1 ; - oboInOwl:hasDbXref UMLS:C3553801 ; oboInOwl:hasExactSynonym "NYS7", "nystagmus 7, congenital, autosomal dominant" ; rdfs:subClassOf OMIMPS:310700 ; + skos:exactMatch UMLS:C3553801 ; biolink:category biolink:Disease . OMIM:614831 a owl:Class ; @@ -451604,21 +468304,21 @@ OMIM:614831 a owl:Class ; PMID:31319223, PMID:7954803, PMID:7969468 ; - oboInOwl:hasDbXref UMLS:C3553816, - ORPHA:324262, - ORPHA:363429 ; oboInOwl:hasExactSynonym "SCAR13", "spinocerebellar ataxia, autosomal recessive 13" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C3553816, + ORPHA:324262, + ORPHA:363429 ; biolink:category biolink:Disease . OMIM:614832 a owl:Class ; rdfs:label "amelogenesis imperfecta, hypomaturation type, iia4" ; IAO:0000142 PMID:22901946 ; - oboInOwl:hasDbXref UMLS:C3553830 ; oboInOwl:hasExactSynonym "AI2A4", "amelogenesis imperfecta, hypomaturation type, iia4" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C3553830 ; biolink:category biolink:Disease . OMIM:614833 a owl:Class ; @@ -451628,30 +468328,30 @@ OMIM:614833 a owl:Class ; PMID:26940245, PMID:29967526, PMID:30121372 ; - oboInOwl:hasDbXref UMLS:C3553831 ; oboInOwl:hasExactSynonym "MSSP", "microcephaly, short stature, and polymicrogyria with or without seizures", "polymicrogyria with seizures" ; + skos:exactMatch UMLS:C3553831 ; biolink:category biolink:Disease . OMIM:614834 a owl:Class ; rdfs:label "thyrotoxic periodic paralysis, susceptibility to, 3" ; IAO:0000142 PMID:22863731 ; RO:0002525 CHR:9606chr17q24.3 ; - oboInOwl:hasDbXref UMLS:C3553839 ; oboInOwl:hasExactSynonym "TTPP3", "thyrotoxic periodic paralysis, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:188580 ; + skos:exactMatch UMLS:C3553839 ; biolink:category biolink:Disease . OMIM:614836 a owl:Class ; rdfs:label "human herpesvirus 8, susceptibility to" ; IAO:0000142 PMID:22258534 ; RO:0002525 CHR:9606chr3p22 ; - oboInOwl:hasDbXref UMLS:C3553840 ; oboInOwl:hasExactSynonym "HHV8S", "hhv-8, susceptibility to", "human herpesvirus 8, susceptibility to" ; + skos:exactMatch UMLS:C3553840 ; biolink:category biolink:Disease . OMIM:614837 a owl:Class ; @@ -451664,10 +468364,10 @@ OMIM:614837 a owl:Class ; PMID:17761590, PMID:23349759, PMID:23643382 ; - oboInOwl:hasDbXref UMLS:C3553841 ; oboInOwl:hasExactSynonym "HH8", "hypogonadotropic hypogonadism 8 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3553841 ; biolink:category biolink:Disease . OMIM:614838 a owl:Class ; @@ -451676,10 +468376,10 @@ OMIM:614838 a owl:Class ; PMID:17235395, PMID:17761590, PMID:21700882 ; - oboInOwl:hasDbXref UMLS:C3553842 ; oboInOwl:hasExactSynonym "HH9", "hypogonadotropic hypogonadism 9 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3553842 ; biolink:category biolink:Disease . OMIM:614839 a owl:Class ; @@ -451687,10 +468387,10 @@ OMIM:614839 a owl:Class ; IAO:0000142 PMID:17761590, PMID:19079066, PMID:20332248 ; - oboInOwl:hasDbXref UMLS:C3553843 ; oboInOwl:hasExactSynonym "HH10", "hypogonadotropic hypogonadism 10 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3553843 ; biolink:category biolink:Disease . OMIM:614840 a owl:Class ; @@ -451698,41 +468398,41 @@ OMIM:614840 a owl:Class ; IAO:0000142 PMID:17761590, PMID:19079066, PMID:20332248 ; - oboInOwl:hasDbXref UMLS:C3553844 ; oboInOwl:hasExactSynonym "HH11", "hypogonadotropic hypogonadism 11 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3553844 ; biolink:category biolink:Disease . OMIM:614842 a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 13 with or without anosmia" ; IAO:0000142 PMID:17761590, PMID:22335740 ; - oboInOwl:hasDbXref UMLS:C3541462 ; oboInOwl:hasExactSynonym "HH13", "hypogonadotropic hypogonadism 13 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3541462 ; biolink:category biolink:Disease . OMIM:614844 a owl:Class ; rdfs:label "nephronophthisis 14" ; IAO:0000142 PMID:22863007 ; - oboInOwl:hasDbXref UMLS:C3539071, - UMLS:C3553846 ; oboInOwl:hasExactSynonym "NPHP14", "joubert syndrome 19", "nephronophthisis 14" ; rdfs:subClassOf OMIMPS:213300, OMIMPS:256100 ; + skos:exactMatch UMLS:C3539071, + UMLS:C3553846 ; biolink:category biolink:Disease . OMIM:614845 a owl:Class ; rdfs:label "nephronophthisis 15" ; IAO:0000142 PMID:22863007 ; - oboInOwl:hasDbXref UMLS:C3541853 ; oboInOwl:hasExactSynonym "NPHP15", "nephronophthisis 15" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C3541853 ; biolink:category biolink:Disease . OMIM:614847 a owl:Class ; @@ -451742,40 +468442,40 @@ OMIM:614847 a owl:Class ; PMID:22282645, PMID:23280796, PMID:26537434 ; - oboInOwl:hasDbXref UMLS:C3553859 ; oboInOwl:hasExactSynonym "EIG12", "epilepsy, idiopathic generalized, susceptibility to, 12" ; rdfs:subClassOf OMIMPS:600669 ; + skos:exactMatch UMLS:C3553859 ; biolink:category biolink:Disease . OMIM:614849 a owl:Class ; rdfs:label "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5" ; IAO:0000142 PMID:20832341 ; - oboInOwl:hasDbXref UMLS:C3553868 ; oboInOwl:hasExactSynonym "IIAE5", "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5", "herpes simplex encephalitis, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:610551 ; + skos:exactMatch UMLS:C3553868 ; biolink:category biolink:Disease . OMIM:614850 a owl:Class ; rdfs:label "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6" ; IAO:0000142 PMID:22105173, PMID:26513235 ; - oboInOwl:hasDbXref UMLS:C3553869 ; oboInOwl:hasExactSynonym "IIAE6", "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6", "herpes simplex encephalitis, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:610551 ; + skos:exactMatch UMLS:C3553869 ; biolink:category biolink:Disease . OMIM:614851 a owl:Class ; rdfs:label "seckel syndrome 7" ; IAO:0000142 PMID:22933543 ; - oboInOwl:hasDbXref UMLS:C3553870 ; oboInOwl:hasExactSynonym "SCKL7", "seckel syndrome 7" ; rdfs:subClassOf OMIMPS:210600 ; + skos:exactMatch UMLS:C3553870 ; biolink:category biolink:Disease . OMIM:614856 a owl:Class ; @@ -451787,20 +468487,20 @@ OMIM:614856 a owl:Class ; PMID:25214535, PMID:25402547, PMID:458828 ; - oboInOwl:hasDbXref UMLS:C3553887 ; oboInOwl:hasExactSynonym "OI13", "oi, iia 13", "osteogenesis imperfecta, iia 13" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C3553887 ; biolink:category biolink:Disease . OMIM:614857 a owl:Class ; rdfs:label "methylmalonic aciduria and homocystinuria, cblj iia" ; IAO:0000142 PMID:22922874 ; - oboInOwl:hasDbXref UMLS:C3553915 ; oboInOwl:hasExactSynonym "MAHCJ", "methylmalonic aciduria and homocystinuria, cblj iia" ; rdfs:subClassOf OMIMPS:277400 ; + skos:exactMatch UMLS:C3553915 ; biolink:category biolink:Disease . OMIM:614858 a owl:Class ; @@ -451809,10 +468509,10 @@ OMIM:614858 a owl:Class ; PMID:17761590, PMID:20887964, PMID:8825924 ; - oboInOwl:hasDbXref UMLS:C3540450 ; oboInOwl:hasExactSynonym "HH14", "hypogonadotropic hypogonadism 14 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3540450 ; biolink:category biolink:Disease . OMIM:614860 a owl:Class ; @@ -451823,11 +468523,11 @@ OMIM:614860 a owl:Class ; PMID:25296916, PMID:8232359 ; RO:0002525 CHR:9606chr9q34 ; - oboInOwl:hasDbXref UMLS:C3538999, - ORPHA:420492 ; oboInOwl:hasExactSynonym "DYT23", "dystonia 23" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C3538999, + ORPHA:420492 ; biolink:category biolink:Disease . OMIM:614863 a owl:Class ; @@ -451837,10 +468537,10 @@ OMIM:614863 a owl:Class ; PMID:22871920, PMID:29220678, PMID:3515938 ; - oboInOwl:hasDbXref UMLS:C3553937 ; oboInOwl:hasExactSynonym "PBD4B", "peroxisome biogenesis disorder 4b" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3553937 ; biolink:category biolink:Disease . OMIM:614867 a owl:Class ; @@ -451851,21 +468551,21 @@ OMIM:614867 a owl:Class ; PMID:22871920, PMID:23430938, PMID:7931872 ; - oboInOwl:hasDbXref UMLS:C3542026 ; oboInOwl:hasExactSynonym "PBD5B", "peroxisome biogenesis disorder 5b" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3542026 ; biolink:category biolink:Disease . OMIM:614868 a owl:Class ; rdfs:label "t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations" ; IAO:0000142 PMID:22174160, PMID:22294732 ; - oboInOwl:hasDbXref UMLS:C3553943 ; oboInOwl:hasExactSynonym "TIIAC", "mst1 deficiency", "stk4 deficiency", "t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations" ; + skos:exactMatch UMLS:C3553943 ; biolink:category biolink:Disease . OMIM:614869 a owl:Class ; @@ -451873,10 +468573,10 @@ OMIM:614869 a owl:Class ; IAO:0000142 PMID:18505454, PMID:23023331, PMID:2909824 ; - oboInOwl:hasDbXref UMLS:C3553944 ; oboInOwl:hasExactSynonym "USH1J", "usher syndrome, iia 1j" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C3553944 ; biolink:category biolink:Disease . OMIM:614871 a owl:Class ; @@ -451886,10 +468586,10 @@ OMIM:614871 a owl:Class ; PMID:22871920, PMID:8982949, PMID:9683594 ; - oboInOwl:hasDbXref UMLS:C3553948 ; oboInOwl:hasExactSynonym "PBD6B", "peroxisome biogenesis disorder 6b" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3553948 ; biolink:category biolink:Disease . OMIM:614873 a owl:Class ; @@ -451897,10 +468597,10 @@ OMIM:614873 a owl:Class ; IAO:0000142 PMID:12717447, PMID:12851857, PMID:22871920 ; - oboInOwl:hasDbXref UMLS:C3553951 ; oboInOwl:hasExactSynonym "PBD7B", "peroxisome biogenesis disorder 7b" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3553951 ; biolink:category biolink:Disease . OMIM:614874 a owl:Class ; @@ -451908,11 +468608,11 @@ OMIM:614874 a owl:Class ; IAO:0000142 PMID:20350728, PMID:23040496, PMID:29363216 ; - oboInOwl:hasDbXref UMLS:C3543825 ; oboInOwl:hasExactSynonym "CILD18", "ciliary dyskinesia, primary, 18", "ciliary dyskinesia, primary, 18, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3543825 ; biolink:category biolink:Disease . OMIM:614877 a owl:Class ; @@ -451920,10 +468620,10 @@ OMIM:614877 a owl:Class ; IAO:0000142 PMID:10573465, PMID:20647552, PMID:22871920 ; - oboInOwl:hasDbXref UMLS:C3553960 ; oboInOwl:hasExactSynonym "PBD8B", "peroxisome biogenesis disorder 8b" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3553960 ; biolink:category biolink:Disease . OMIM:614880 a owl:Class ; @@ -451931,10 +468631,10 @@ OMIM:614880 a owl:Class ; IAO:0000142 PMID:17761590, PMID:21700882, PMID:23643382 ; - oboInOwl:hasDbXref UMLS:C3553977 ; oboInOwl:hasExactSynonym "HH15", "hypogonadotropic hypogonadism 15 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3553977 ; biolink:category biolink:Disease . OMIM:614882 a owl:Class ; @@ -451942,14 +468642,14 @@ OMIM:614882 a owl:Class ; IAO:0000142 PMID:10958759, PMID:17055079, PMID:7562283 ; - oboInOwl:hasDbXref UMLS:C1864171, - UMLS:C1864172, - UMLS:C3553999 ; oboInOwl:hasExactSynonym "PBD10A", "peroxisome biogenesis disorder 10a (zellweger)", "peroxisome biogenesis disorder, complementation group 12", "peroxisome biogenesis disorder, complementation group g" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C1864171, + UMLS:C1864172, + UMLS:C3553999 ; biolink:category biolink:Disease . OMIM:614885 a owl:Class ; @@ -451958,10 +468658,10 @@ OMIM:614885 a owl:Class ; PMID:17041890, PMID:22871920, PMID:9480815 ; - oboInOwl:hasDbXref UMLS:C3554001 ; oboInOwl:hasExactSynonym "PBD11B", "peroxisome biogenesis disorder 11b" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3554001 ; biolink:category biolink:Disease . OMIM:614886 a owl:Class ; @@ -451970,9 +468670,6 @@ OMIM:614886 a owl:Class ; PMID:17055079, PMID:20683989, PMID:9727033 ; - oboInOwl:hasDbXref UMLS:C1838299, - UMLS:C1838300, - UMLS:C3554002 ; oboInOwl:hasExactSynonym "PBD12A", "cg14", "cgj", @@ -451980,6 +468677,9 @@ OMIM:614886 a owl:Class ; "peroxisome biogenesis disorder, complementation group 14", "peroxisome biogenesis disorder, complementation group j" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C1838299, + UMLS:C1838300, + UMLS:C3554002 ; biolink:category biolink:Disease . OMIM:614887 a owl:Class ; @@ -451987,12 +468687,12 @@ OMIM:614887 a owl:Class ; IAO:0000142 PMID:15146459, PMID:17055079, PMID:18285423 ; - oboInOwl:hasDbXref UMLS:C1866257, - UMLS:C3554004 ; oboInOwl:hasExactSynonym "PBD13A", "peroxisome biogenesis disorder 13a (zellweger)", "peroxisome biogenesis disorder, complementation group k" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C1866257, + UMLS:C3554004 ; biolink:category biolink:Disease . OMIM:614889 a owl:Class ; @@ -452002,14 +468702,14 @@ OMIM:614889 a owl:Class ; PMID:18625743, PMID:19084105, PMID:31222290 ; - oboInOwl:hasDbXref UMLS:C4013947, - ORPHA:319547, - ORPHA:319574 ; oboInOwl:hasExactSynonym "IMD28", "ifngr2 deficiency", "immunodeficiency 28", "immunodeficiency 28, mycobacteriosis, autosomal recessive" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4013947, + ORPHA:319547, + ORPHA:319574 ; biolink:category biolink:Disease . OMIM:614890 a owl:Class ; @@ -452017,11 +468717,11 @@ OMIM:614890 a owl:Class ; IAO:0000142 PMID:11753820, PMID:19084105, PMID:9854038 ; - oboInOwl:hasDbXref UMLS:C4013948 ; oboInOwl:hasExactSynonym "IMD29", "il12b deficiency", "immunodeficiency 29" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4013948 ; biolink:category biolink:Disease . OMIM:614891 a owl:Class ; @@ -452034,19 +468734,19 @@ OMIM:614891 a owl:Class ; PMID:23952477, PMID:9603732, PMID:9603733 ; - oboInOwl:hasDbXref UMLS:C4013949 ; oboInOwl:hasExactSynonym "IMD30", "il12rb1 deficiency", "immunodeficiency 30" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4013949 ; biolink:category biolink:Disease . OMIM:614896 a owl:Class ; rdfs:label "sinoatrial node dysfunction and deafness" ; IAO:0000142 PMID:21131953 ; - oboInOwl:hasDbXref UMLS:C3554018 ; oboInOwl:hasExactSynonym "SANDD", "sinoatrial node dysfunction and deafness" ; + skos:exactMatch UMLS:C3554018 ; biolink:category biolink:Disease . OMIM:614897 a owl:Class ; @@ -452054,29 +468754,29 @@ OMIM:614897 a owl:Class ; IAO:0000142 PMID:17761590, PMID:22416012, PMID:22927827 ; - oboInOwl:hasDbXref UMLS:C3554021 ; oboInOwl:hasExactSynonym "HH16", "hypogonadotropic hypogonadism 16 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3554021 ; biolink:category biolink:Disease . OMIM:614898 a owl:Class ; rdfs:label "spastic paraplegia 53, autosomal recessive" ; IAO:0000142 PMID:22717650 ; - oboInOwl:hasDbXref UMLS:C3539494 ; oboInOwl:hasExactSynonym "SPG53", "spastic paraplegia 53, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3539494 ; biolink:category biolink:Disease . OMIM:614899 a owl:Class ; rdfs:label "deafness, autosomal recessive 93" ; IAO:0000142 PMID:21542834, PMID:22981119 ; - oboInOwl:hasDbXref UMLS:C3888355 ; oboInOwl:hasExactSynonym "DFNB93", "deafness, autosomal recessive 93" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3888355 ; biolink:category biolink:Disease . OMIM:614900 a owl:Class ; @@ -452087,19 +468787,19 @@ OMIM:614900 a owl:Class ; PMID:20116044, PMID:22431104, PMID:23812780 ; - oboInOwl:hasDbXref UMLS:C3554042 ; oboInOwl:hasExactSynonym "DBA11", "diamond-blackfan anemia 11" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C3554042 ; biolink:category biolink:Disease . OMIM:614916 a owl:Class ; rdfs:label "ventricular tachycardia, catecholaminergic polymorphic, 4" ; IAO:0000142 PMID:23040497 ; - oboInOwl:hasDbXref UMLS:C3554047 ; oboInOwl:hasExactSynonym "CPVT4", "ventricular tachycardia, catecholaminergic polymorphic, 4" ; rdfs:subClassOf OMIMPS:604772 ; + skos:exactMatch UMLS:C3554047 ; biolink:category biolink:Disease . OMIM:614920 a owl:Class ; @@ -452109,12 +468809,12 @@ OMIM:614920 a owl:Class ; PMID:22581969, PMID:2445576, PMID:3515938 ; - oboInOwl:hasDbXref UMLS:C3554055, - ORPHA:44, - ORPHA:772 ; oboInOwl:hasExactSynonym "PEX14B", "peroxisome biogenesis disorder 14b" ; rdfs:subClassOf OMIMPS:214100 ; + skos:exactMatch UMLS:C3554055, + ORPHA:44, + ORPHA:772 ; biolink:category biolink:Disease . OMIM:614922 a owl:Class ; @@ -452125,32 +468825,32 @@ OMIM:614922 a owl:Class ; PMID:25058219, PMID:25604853, PMID:26395190 ; - oboInOwl:hasDbXref UMLS:C3554067 ; oboInOwl:hasExactSynonym "COXPD11", "combined oxidative phosphorylation deficiency 11", "encephaloneuromyopathy, infantile, due to mitochondrial translation defect" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3554067 ; biolink:category biolink:Disease . OMIM:614923 a owl:Class ; rdfs:label "branched-chain keto acid dehydrogenase kinase deficiency" ; IAO:0000142 PMID:16875466, PMID:22956686 ; - oboInOwl:hasDbXref UMLS:C3554078 ; oboInOwl:hasExactSynonym "BCKDKD", "bckdk deficiency", "branched-chain keto acid dehydrogenase kinase deficiency" ; + skos:exactMatch UMLS:C3554078 ; biolink:category biolink:Disease . OMIM:614924 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 12" ; IAO:0000142 PMID:22492562, PMID:23008233 ; - oboInOwl:hasDbXref UMLS:C3554079 ; oboInOwl:hasExactSynonym "COXPD12", "combined oxidative phosphorylation deficiency 12", "leukoencephalopathy with thalamus and brainstem involvement and high lactate" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3554079 ; biolink:category biolink:Disease . OMIM:614926 a owl:Class ; @@ -452158,61 +468858,61 @@ OMIM:614926 a owl:Class ; IAO:0000142 PMID:21464306, PMID:31486067, PMID:517579 ; - oboInOwl:hasDbXref UMLS:C3554105, - ORPHA:2855 ; oboInOwl:hasExactSynonym "PRLTS2", "perrault syndrome 2" ; rdfs:subClassOf OMIMPS:233400 ; + skos:exactMatch UMLS:C3554105, + ORPHA:2855 ; biolink:category biolink:Disease . OMIM:614927 a owl:Class ; rdfs:label "ectodermal dysplasia 5, hair/nail iia" ; IAO:0000142 PMID:15675952 ; RO:0002525 CHR:9606chr10q24.32-q25.1 ; - oboInOwl:hasDbXref UMLS:C3554108 ; oboInOwl:hasExactSynonym "ECTD5", "ectodermal dysplasia 5, hair/nail iia" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C3554108 ; biolink:category biolink:Disease . OMIM:614928 a owl:Class ; rdfs:label "ectodermal dysplasia 6, hair/nail iia" ; IAO:0000142 PMID:17107387 ; RO:0002525 CHR:9606chr17p12-q21.2 ; - oboInOwl:hasDbXref UMLS:C3554111 ; oboInOwl:hasExactSynonym "ECTD6", "ectodermal dysplasia 6, hair/nail iia" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C3554111 ; biolink:category biolink:Disease . OMIM:614931 a owl:Class ; rdfs:label "ectodermal dysplasia 9, hair/nail iia" ; IAO:0000142 PMID:23063621, PMID:23315978 ; - oboInOwl:hasDbXref UMLS:C3554127 ; oboInOwl:hasExactSynonym "ECTD9", "ectodermal dysplasia 9, hair/nail iia" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C3554127 ; biolink:category biolink:Disease . OMIM:614934 a owl:Class ; rdfs:label "deafness, autosomal recessive 70" ; IAO:0000142 PMID:23084290 ; - oboInOwl:hasDbXref UMLS:C1824925 ; oboInOwl:hasExactSynonym "DFNB70", "deafness, autosomal recessive 70" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1824925 ; biolink:category biolink:Disease . OMIM:614935 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 19" ; IAO:0000142 PMID:23122589, PMID:23891469 ; - oboInOwl:hasDbXref UMLS:C3543826 ; oboInOwl:hasExactSynonym "CILD19", "ciliary dyskinesia, primary, 19", "ciliary dyskinesia, primary, 19, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3543826 ; biolink:category biolink:Disease . OMIM:614936 a owl:Class ; @@ -452220,19 +468920,19 @@ OMIM:614936 a owl:Class ; IAO:0000142 PMID:15140213, PMID:22972947 ; RO:0002525 CHR:9606chr8q24.13-q24.21 ; - oboInOwl:hasDbXref UMLS:C3554145 ; oboInOwl:hasExactSynonym "PPKP1B", "palmoplantar keratoderma, punctate iia 1b" ; + skos:exactMatch UMLS:C3554145 ; biolink:category biolink:Disease . OMIM:614937 a owl:Class ; rdfs:label "myoclonus, familial, 1" ; IAO:0000142 PMID:22926851 ; - oboInOwl:hasDbXref UMLS:C3539916 ; oboInOwl:hasExactSynonym "MYOCL1", "myoclonus, familial cortical", "myoclonus, familial, 1" ; rdfs:subClassOf OMIMPS:614937 ; + skos:exactMatch UMLS:C3539916 ; biolink:category biolink:Disease . OMIM:614941 a owl:Class ; @@ -452242,30 +468942,30 @@ OMIM:614941 a owl:Class ; PMID:20979233, PMID:26991760, PMID:9245989 ; - oboInOwl:hasDbXref UMLS:C3539920 ; oboInOwl:hasExactSynonym "ECTD11B", "ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive", "ectodermal dysplasia, anhidrotic", "ectodermal dysplasia, hypohidrotic" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C3539920 ; biolink:category biolink:Disease . OMIM:614944 a owl:Class ; rdfs:label "deafness, autosomal recessive 84b" ; IAO:0000142 PMID:23122586 ; - oboInOwl:hasDbXref UMLS:C3554159 ; oboInOwl:hasExactSynonym "DFNB84B", "deafness, autosomal recessive 84b" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3554159 ; biolink:category biolink:Disease . OMIM:614945 a owl:Class ; rdfs:label "deafness, autosomal recessive 18b" ; IAO:0000142 PMID:23122587 ; - oboInOwl:hasDbXref UMLS:C3554163 ; oboInOwl:hasExactSynonym "DFNB18B", "deafness, autosomal recessive 18b" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3554163 ; biolink:category biolink:Disease . OMIM:614954 a owl:Class ; @@ -452273,19 +468973,19 @@ OMIM:614954 a owl:Class ; IAO:0000142 PMID:21386876 ; RO:0002525 CHR:9606chr9q31.1 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C3554194 ; oboInOwl:hasExactSynonym "CHTD3", "congenital heart defects, multiple types, 3", "congenital heart defects, multiple types, with cardiac rhythm and conduction disturbances" ; + skos:exactMatch UMLS:C3554194 ; biolink:category biolink:Disease . OMIM:614961 a owl:Class ; rdfs:label "pontocerebellar hypoplasia, iia 8" ; IAO:0000142 PMID:23023333 ; - oboInOwl:hasDbXref UMLS:C3554209 ; oboInOwl:hasExactSynonym "PCH8", "pontocerebellar hypoplasia, iia 8" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C3554209 ; biolink:category biolink:Disease . OMIM:614962 a owl:Class ; @@ -452322,10 +469022,10 @@ OMIM:614962 a owl:Class ; PMID:9202122, PMID:9500540, PMID:9751754 ; - oboInOwl:hasDbXref UMLS:C3554224 ; oboInOwl:hasExactSynonym "LEPD", "leptin deficiency or dysfunction", "obesity, morbid" ; + skos:exactMatch UMLS:C3554224 ; biolink:category biolink:Disease . OMIM:614963 a owl:Class ; @@ -452336,10 +469036,10 @@ OMIM:614963 a owl:Class ; PMID:7585224, PMID:7624352, PMID:9537324 ; - oboInOwl:hasDbXref UMLS:C3554225 ; oboInOwl:hasExactSynonym "LEPRD", "leptin receptor deficiency", "obesity, morbid" ; + skos:exactMatch UMLS:C3554225 ; biolink:category biolink:Disease . OMIM:614969 a owl:Class ; @@ -452349,10 +469049,10 @@ OMIM:614969 a owl:Class ; PMID:21594990, PMID:23686794, PMID:28092684 ; - oboInOwl:hasDbXref UMLS:C3554226 ; oboInOwl:hasExactSynonym "PCH7", "pontocerebellar hypoplasia, iia 7" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C3554226 ; biolink:category biolink:Disease . OMIM:614974 a owl:Class ; @@ -452361,19 +469061,19 @@ OMIM:614974 a owl:Class ; PMID:16530710, PMID:21931173, PMID:23161670 ; - oboInOwl:hasDbXref UMLS:C3554246 ; oboInOwl:hasExactSynonym "FFDD4", "focal facial dermal dysplasia 4" ; rdfs:subClassOf OMIMPS:136500 ; + skos:exactMatch UMLS:C3554246 ; biolink:category biolink:Disease . OMIM:614976 a owl:Class ; rdfs:label "carpenter syndrome 2" ; IAO:0000142 PMID:23063620 ; - oboInOwl:hasDbXref UMLS:C3554247 ; oboInOwl:hasExactSynonym "CRPT2", "carpenter syndrome 2" ; rdfs:subClassOf OMIMPS:201000 ; + skos:exactMatch UMLS:C3554247 ; biolink:category biolink:Disease . OMIM:614979 a owl:Class ; @@ -452381,20 +469081,20 @@ OMIM:614979 a owl:Class ; IAO:0000142 PMID:22307799, PMID:30967659, PMID:31939038 ; - oboInOwl:hasDbXref UMLS:C3554278, - ORPHA:313800 ; oboInOwl:hasExactSynonym "ROSAH", "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome", "splenomegaly, cytopenia, and vision loss" ; + skos:exactMatch UMLS:C3554278, + ORPHA:313800 ; biolink:category biolink:Disease . OMIM:614980 a owl:Class ; rdfs:label "congenital heart defects, multiple types, 2" ; IAO:0000142 PMID:20493459, PMID:26139517 ; - oboInOwl:hasDbXref UMLS:C3554279 ; oboInOwl:hasExactSynonym "CHTD2", "congenital heart defects, multiple types, 2" ; + skos:exactMatch UMLS:C3554279 ; biolink:category biolink:Disease . OMIM:614990 a owl:Class ; @@ -452402,28 +469102,26 @@ OMIM:614990 a owl:Class ; IAO:0000142 PMID:22718019, PMID:2909824 ; RO:0002525 CHR:9606chr10p11.21-q21.1 ; - oboInOwl:hasDbXref UMLS:C3539124 ; oboInOwl:hasExactSynonym "USH1K", "usher syndrome, iia 1k" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C3539124 ; biolink:category biolink:Disease . OMIM:615005 a owl:Class ; rdfs:label "epilepsy, nocturnal frontal lobe, 5" ; IAO:0000142 PMID:18479385, PMID:23086396 ; - oboInOwl:hasDbXref UMLS:C3554306 ; oboInOwl:hasExactSynonym "ENFL5", "epilepsy, nocturnal frontal lobe, 5" ; rdfs:subClassOf OMIMPS:600513 ; + skos:exactMatch UMLS:C3554306 ; biolink:category biolink:Disease . OMIM:615008 a owl:Class ; rdfs:label "nephrotic syndrome, iia 7" ; IAO:0000142 PMID:23274426, PMID:23542698 ; - oboInOwl:hasDbXref UMLS:C3554330, - UMLS:C3808620 ; oboInOwl:hasExactSynonym "NPHS7", "ahus, susceptibility to, 7", "hemolytic uremic syndrome, atypical, susceptibility to, 7", @@ -452431,6 +469129,8 @@ OMIM:615008 a owl:Class ; "nephrotic syndrome, iia 7, with membranoproliferative glomerulonephritis" ; rdfs:subClassOf OMIMPS:235400, OMIMPS:256300 ; + skos:exactMatch UMLS:C3554330, + UMLS:C3808620 ; biolink:category biolink:Disease . OMIM:615009 a owl:Class ; @@ -452439,11 +469139,11 @@ OMIM:615009 a owl:Class ; PMID:25522177, PMID:26842493, PMID:30113927 ; - oboInOwl:hasDbXref UMLS:C3554343 ; oboInOwl:hasExactSynonym "SHMS", "intellectual developmental disorder, autosomal dominant 17", "schuurs-hoeijmakers syndrome" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C3554343 ; biolink:category biolink:Disease . OMIM:615011 a owl:Class ; @@ -452451,9 +469151,9 @@ OMIM:615011 a owl:Class ; IAO:0000142 PMID:23242558, PMID:2387074, PMID:7957383 ; - oboInOwl:hasDbXref UMLS:C3554344 ; oboInOwl:hasExactSynonym "PHLU", "phosphohydroxylysinuria" ; + skos:exactMatch UMLS:C3554344 ; biolink:category biolink:Disease . OMIM:615018 a owl:Class ; @@ -452471,9 +469171,9 @@ OMIM:615021 a owl:Class ; PMID:15142124, PMID:20971946, PMID:6879680 ; - oboInOwl:hasDbXref UMLS:C3539121 ; oboInOwl:hasExactSynonym "GLOB", "blood group, globoside system" ; + skos:exactMatch UMLS:C3539121 ; biolink:category biolink:Disease . OMIM:615022 a owl:Class ; @@ -452487,10 +469187,10 @@ OMIM:615022 a owl:Class ; PMID:19434086, PMID:20643494 ; RO:0002525 CHR:9606chr12p11.2-q13.1 ; - oboInOwl:hasDbXref UMLS:C3554348 ; oboInOwl:hasExactSynonym "ARCI7", "ichthyosis, congenital, autosomal recessive 7" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C3554348 ; biolink:category biolink:Disease . OMIM:615023 a owl:Class ; @@ -452504,10 +469204,10 @@ OMIM:615023 a owl:Class ; PMID:21093221, PMID:23549421, PMID:23754960 ; - oboInOwl:hasDbXref UMLS:C3554349 ; oboInOwl:hasExactSynonym "ARCI9", "ichthyosis, congenital, autosomal recessive 9" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C3554349 ; biolink:category biolink:Disease . OMIM:615024 a owl:Class ; @@ -452523,10 +469223,10 @@ OMIM:615024 a owl:Class ; PMID:26691440, PMID:28403545, PMID:3757302 ; - oboInOwl:hasDbXref UMLS:C3554355 ; oboInOwl:hasExactSynonym "ARCI10", "ichthyosis, congenital, autosomal recessive 10" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C3554355 ; biolink:category biolink:Disease . OMIM:615026 a owl:Class ; @@ -452534,38 +469234,38 @@ OMIM:615026 a owl:Class ; IAO:0000142 PMID:17689999, PMID:21089064, PMID:29122468 ; - oboInOwl:hasDbXref UMLS:C0035528 ; oboInOwl:hasExactSynonym "RBFVD", "riboflavin deficiency" ; + skos:exactMatch UMLS:C0035528 ; biolink:category biolink:Disease . OMIM:615028 a owl:Class ; rdfs:label "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" ; IAO:0000142 PMID:23176819 ; - oboInOwl:hasDbXref UMLS:C3554367 ; oboInOwl:hasExactSynonym "EBS4", "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C3554367 ; biolink:category biolink:Disease . OMIM:615030 a owl:Class ; rdfs:label "spastic paraplegia 56, autosomal recessive" ; IAO:0000142 PMID:23176821, PMID:23176824 ; - oboInOwl:hasDbXref UMLS:C3539507 ; oboInOwl:hasExactSynonym "SPG56", "spastic paraplegia 56, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3539507 ; biolink:category biolink:Disease . OMIM:615031 a owl:Class ; rdfs:label "neuropathy, hereditary sensory and autonomic, iia ix, with developmental delay" ; IAO:0000142 PMID:23176824 ; - oboInOwl:hasDbXref UMLS:C3542549 ; oboInOwl:hasExactSynonym "HSAN9", "neuropathy, hereditary sensory and autonomic, iia ix, with developmental delay", "spastic paraplegia 49, autosomal recessive, formerly" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C3542549 ; biolink:category biolink:Disease . OMIM:615032 a owl:Class ; @@ -452580,10 +469280,10 @@ OMIM:615032 a owl:Class ; PMID:23160955, PMID:24998929, PMID:8655659 ; - oboInOwl:hasDbXref UMLS:C3554373 ; oboInOwl:hasExactSynonym "AUTS18", "autism, susceptibility to, 18" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C3554373 ; biolink:category biolink:Disease . OMIM:615033 a owl:Class ; @@ -452592,20 +469292,20 @@ OMIM:615033 a owl:Class ; PMID:23176823, PMID:23486545, PMID:24482476 ; - oboInOwl:hasDbXref UMLS:C3539495 ; oboInOwl:hasExactSynonym "SPG54", "spastic paraplegia 54, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3539495 ; biolink:category biolink:Disease . OMIM:615034 a owl:Class ; rdfs:label "dystonia 24" ; IAO:0000142 PMID:11009204, PMID:23200863 ; - oboInOwl:hasDbXref UMLS:C3554374 ; oboInOwl:hasExactSynonym "DYT24", "dystonia 24" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C3554374 ; biolink:category biolink:Disease . OMIM:615035 a owl:Class ; @@ -452616,41 +469316,41 @@ OMIM:615035 a owl:Class ; PMID:24424123, PMID:3479531, PMID:6303658 ; - oboInOwl:hasDbXref UMLS:C3539506 ; oboInOwl:hasExactSynonym "SPG55", "spastic paraplegia 55, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3539506 ; biolink:category biolink:Disease . OMIM:615040 a owl:Class ; rdfs:label "episodic pain syndrome, familial, 1" ; IAO:0000142 PMID:20547126 ; - oboInOwl:hasDbXref UMLS:C3808667 ; oboInOwl:hasExactSynonym "FEPS1", "episodic pain syndrome, familial, 1" ; rdfs:subClassOf OMIMPS:615040 ; + skos:exactMatch UMLS:C3808667 ; biolink:category biolink:Disease . OMIM:615041 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 10" ; IAO:0000142 PMID:23217329, PMID:23519211 ; - oboInOwl:hasDbXref UMLS:C3554381 ; oboInOwl:hasExactSynonym "MDDGA10", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 10", "walker-warburg syndrome or muscle-eye-brain disease, tmem5-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3554381 ; biolink:category biolink:Disease . OMIM:615042 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iu" ; IAO:0000142 PMID:19901254, PMID:23109149 ; - oboInOwl:hasDbXref UMLS:C3554385 ; oboInOwl:hasExactSynonym "CDG1U", "cdg iu", "congenital disorder of glycosylation, iia iu" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C3554385 ; biolink:category biolink:Disease . OMIM:615048 a owl:Class ; @@ -452659,30 +469359,30 @@ OMIM:615048 a owl:Class ; PMID:22535186, PMID:25113787, PMID:25428574 ; - oboInOwl:hasDbXref UMLS:C3554398 ; oboInOwl:hasExactSynonym "SMAJ", "spinal muscular atrophy, jokela iia" ; + skos:exactMatch UMLS:C3554398 ; biolink:category biolink:Disease . OMIM:615058 a owl:Class ; rdfs:label "night blindness, congenital stationary, iia 1f" ; IAO:0000142 PMID:23246293 ; - oboInOwl:hasDbXref UMLS:C3554399, - ORPHA:215 ; oboInOwl:hasExactSynonym "CSNB1F", "night blindness, congenital stationary, iia 1f" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C3554399, + ORPHA:215 ; biolink:category biolink:Disease . OMIM:615059 a owl:Class ; rdfs:label "hypotrichosis 11" ; IAO:0000142 PMID:23246290, PMID:9621144 ; - oboInOwl:hasDbXref UMLS:C3554409, - ORPHA:55654 ; oboInOwl:hasExactSynonym "HYPT11", "hypotrichosis 11" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C3554409, + ORPHA:55654 ; biolink:category biolink:Disease . OMIM:615065 a owl:Class ; @@ -452690,10 +469390,10 @@ OMIM:615065 a owl:Class ; IAO:0000142 PMID:23236030, PMID:23261301, PMID:25099528 ; - oboInOwl:hasDbXref UMLS:C3554415 ; oboInOwl:hasExactSynonym "DA5D", "arthrogryposis, distal, iia 5d" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C3554415 ; biolink:category biolink:Disease . OMIM:615066 a owl:Class ; @@ -452701,22 +469401,22 @@ OMIM:615066 a owl:Class ; IAO:0000142 PMID:23054245, PMID:23316006, PMID:458828 ; - oboInOwl:hasDbXref UMLS:C3554428 ; oboInOwl:hasExactSynonym "OI14", "oi, iia 14", "osteogenesis imperfecta, iia 14" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C3554428 ; biolink:category biolink:Disease . OMIM:615067 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 20" ; IAO:0000142 PMID:23261302, PMID:23261303 ; - oboInOwl:hasDbXref UMLS:C3540844 ; oboInOwl:hasExactSynonym "CILD20", "ciliary dyskinesia, primary, 20", "ciliary dyskinesia, primary, 20, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3540844 ; biolink:category biolink:Disease . OMIM:615071 a owl:Class ; @@ -452725,21 +469425,21 @@ OMIM:615071 a owl:Class ; PMID:22865833, PMID:26374271, PMID:30006060 ; - oboInOwl:hasDbXref UMLS:C3554439, - ORPHA:319671 ; oboInOwl:hasExactSynonym "ALAZS", "alazami syndrome", "facial dysmorphism, intellectual disability, and primordial dwarfism" ; + skos:exactMatch UMLS:C3554439, + ORPHA:319671 ; biolink:category biolink:Disease . OMIM:615073 a owl:Class ; rdfs:label "dystonia 25" ; IAO:0000142 PMID:23222958, PMID:8309575 ; - oboInOwl:hasDbXref UMLS:C3554447 ; oboInOwl:hasExactSynonym "DYT25", "dystonia 25" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C3554447 ; biolink:category biolink:Disease . OMIM:615074 a owl:Class ; @@ -452751,12 +469451,12 @@ OMIM:615074 a owl:Class ; PMID:31205050, PMID:31949314, PMID:32688057 ; - oboInOwl:hasDbXref UMLS:C3554448, - ORPHA:363686 ; oboInOwl:hasExactSynonym "GAND", "gand syndrome", "mental retardation, autosomal dominant 18" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C3554448, + ORPHA:363686 ; biolink:category biolink:Disease . OMIM:615080 a owl:Class ; @@ -452772,27 +469472,27 @@ OMIM:615080 a owl:Class ; PMID:24143816, PMID:24439484 ; RO:0002525 CHR:9606chr6p21.2 ; - oboInOwl:hasDbXref UMLS:C3554452 ; oboInOwl:hasExactSynonym "AD17", "alzheimer disease 17", "alzheimer disease 17, late-onset" ; + skos:exactMatch UMLS:C3554452 ; biolink:category biolink:Disease . OMIM:615081 a owl:Class ; rdfs:label "spermatogenic failure 11" ; IAO:0000142 PMID:15136734, PMID:17047026 ; - oboInOwl:hasDbXref UMLS:C3554453 ; oboInOwl:hasExactSynonym "SPGF11", "spermatogenic failure 11" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C3554453 ; biolink:category biolink:Disease . OMIM:615082 a owl:Class ; rdfs:label "c3hex, ability to smell" ; IAO:0000142 PMID:22714804 ; - oboInOwl:hasDbXref UMLS:C3554456 ; oboInOwl:hasExactSynonym "c3hex, ability to smell" ; + skos:exactMatch UMLS:C3554456 ; biolink:category biolink:Disease . OMIM:615083 a owl:Class ; @@ -452801,31 +469501,31 @@ OMIM:615083 a owl:Class ; PMID:24501277, PMID:25370038, PMID:26133394 ; - oboInOwl:hasDbXref UMLS:C3554460, - ORPHA:220460, - ORPHA:447877 ; oboInOwl:hasExactSynonym "CRCS12", "colorectal cancer, susceptibility to, 12", "colorectal cancer, susceptibility to, on chromosome 12q24" ; + skos:exactMatch UMLS:C3554460, + ORPHA:220460, + ORPHA:447877 ; biolink:category biolink:Disease . OMIM:615084 a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 11" ; IAO:0000142 PMID:23313956 ; - oboInOwl:hasDbXref UMLS:C3554462 ; oboInOwl:hasExactSynonym "MTDPS11", "mitochondrial DNA depletion syndrome 11" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C3554462 ; biolink:category biolink:Disease . OMIM:615085 a owl:Class ; rdfs:label "osteopetrosis, autosomal recessive 8" ; IAO:0000142 PMID:22499339, PMID:23123320 ; - oboInOwl:hasDbXref UMLS:C3554478 ; oboInOwl:hasExactSynonym "OPTB8", "osteopetrosis, autosomal recessive 8" ; rdfs:subClassOf OMIMPS:259700 ; + skos:exactMatch UMLS:C3554478 ; biolink:category biolink:Disease . OMIM:615091 a owl:Class ; @@ -452835,19 +469535,19 @@ OMIM:615091 a owl:Class ; PMID:19556253, PMID:23172145, PMID:23263185 ; - oboInOwl:hasDbXref UMLS:C3554495 ; oboInOwl:hasExactSynonym "AUTS19", "autism, susceptibility to, 19" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C3554495 ; biolink:category biolink:Disease . OMIM:615092 a owl:Class ; rdfs:label "left ventricular noncompaction 7" ; IAO:0000142 PMID:23314057 ; - oboInOwl:hasDbXref UMLS:C3554496 ; oboInOwl:hasExactSynonym "LVNC7", "left ventricular noncompaction 7" ; rdfs:subClassOf OMIMPS:604169 ; + skos:exactMatch UMLS:C3554496 ; biolink:category biolink:Disease . OMIM:615095 a owl:Class ; @@ -452855,39 +469555,39 @@ OMIM:615095 a owl:Class ; IAO:0000142 PMID:23178126, PMID:27540107, PMID:29652087 ; - oboInOwl:hasDbXref UMLS:C3554499, - ORPHA:329228 ; oboInOwl:hasExactSynonym "MCPH10", "microcephaly 10, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C3554499, + ORPHA:329228 ; biolink:category biolink:Disease . OMIM:615107 a owl:Class ; rdfs:label "cowden syndrome 4" ; IAO:0000142 PMID:21177507 ; - oboInOwl:hasDbXref UMLS:C3554517 ; oboInOwl:hasExactSynonym "CWS4", "cowden syndrome 4" ; rdfs:subClassOf OMIMPS:158350 ; + skos:exactMatch UMLS:C3554517 ; biolink:category biolink:Disease . OMIM:615112 a owl:Class ; rdfs:label "urofacial syndrome 2" ; IAO:0000142 PMID:23313374 ; - oboInOwl:hasDbXref UMLS:C3554520 ; oboInOwl:hasExactSynonym "UFS2", "urofacial syndrome 2" ; rdfs:subClassOf OMIMPS:236730 ; + skos:exactMatch UMLS:C3554520 ; biolink:category biolink:Disease . OMIM:615113 a owl:Class ; rdfs:label "microphthalmia, isolated 8" ; IAO:0000142 PMID:23312594, PMID:23591992 ; - oboInOwl:hasDbXref UMLS:C3554524 ; oboInOwl:hasExactSynonym "MCOP8", "microphthalmia, isolated 8" ; rdfs:subClassOf OMIMPS:251600 ; + skos:exactMatch UMLS:C3554524 ; biolink:category biolink:Disease . OMIM:615119 a owl:Class ; @@ -452897,12 +469597,12 @@ OMIM:615119 a owl:Class ; PMID:15863660, PMID:21412973, PMID:2175025 ; - oboInOwl:hasDbXref UMLS:C3554534, - ORPHA:1561 ; oboInOwl:hasExactSynonym "MC4DN6", "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2", "mitochondrial complex 4 deficiency, nuclear iia 6" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C3554534, + ORPHA:1561 ; biolink:category biolink:Disease . OMIM:615120 a owl:Class ; @@ -452910,12 +469610,12 @@ OMIM:615120 a owl:Class ; IAO:0000142 PMID:11323662, PMID:19631309, PMID:22205389 ; - oboInOwl:hasDbXref UMLS:C3808739 ; oboInOwl:hasExactSynonym "CMS8", "myasthenic syndrome, congenital, 8", "myasthenic syndrome, congenital, due to agrin deficiency", "myasthenic syndrome, congenital, with pre- and postsynaptic defects" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C3808739 ; biolink:category biolink:Disease . OMIM:615122 a owl:Class ; @@ -452923,44 +469623,44 @@ OMIM:615122 a owl:Class ; IAO:0000142 PMID:22197273, PMID:22365582, PMID:22801960 ; - oboInOwl:hasDbXref UMLS:C3554540 ; oboInOwl:hasExactSynonym "LPFS2", "cd27 deficiency", "lymphoproliferative syndrome 2" ; rdfs:subClassOf OMIMPS:308240 ; + skos:exactMatch UMLS:C3554540 ; biolink:category biolink:Disease . OMIM:615127 a owl:Class ; rdfs:label "epilepsy, familial adult myoclonic, 4" ; IAO:0000142 PMID:22713812, PMID:31539032 ; - oboInOwl:hasDbXref UMLS:C3554560 ; oboInOwl:hasExactSynonym "FAME4", "cortical myoclonic tremor with epilepsy, familial, 4", "epilepsy, familial adult myoclonic, 4" ; rdfs:subClassOf OMIMPS:601068 ; + skos:exactMatch UMLS:C3554560 ; biolink:category biolink:Disease . OMIM:615134 a owl:Class ; rdfs:label "melanoma, cutaneous malignant, susceptibility to, 9" ; IAO:0000142 PMID:23348503, PMID:23348506 ; - oboInOwl:hasDbXref UMLS:C3554574 ; oboInOwl:hasExactSynonym "CMM9", "melanoma, cutaneous malignant, susceptibility to, 9" ; rdfs:subClassOf OMIMPS:155600 ; + skos:exactMatch UMLS:C3554574 ; biolink:category biolink:Disease . OMIM:615135 a owl:Class ; rdfs:label "maple syrup urine disease, mild variant" ; IAO:0000142 PMID:19411760, PMID:23086801 ; - oboInOwl:hasDbXref UMLS:C3554575, - ORPHA:268162, - ORPHA:511 ; oboInOwl:hasExactSynonym "MSUDMV", "maple syrup urine disease, mild variant" ; rdfs:subClassOf OMIMPS:248600 ; + skos:exactMatch UMLS:C3554575, + ORPHA:268162, + ORPHA:511 ; biolink:category biolink:Disease . OMIM:615145 a owl:Class ; @@ -452969,15 +469669,15 @@ OMIM:615145 a owl:Class ; PMID:27103084, PMID:29753094, PMID:30513139 ; - oboInOwl:hasDbXref UMLS:C3554592, - UMLS:C5193017, - UMLS:C5193150 ; oboInOwl:hasExactSynonym "MCOPCB9", "microphthalmia and/or coloboma with developmental delay", "microphthalmia, isolated, with coloboma 9", "microphthalmia, syndromic 15" ; rdfs:subClassOf OMIMPS:300345, OMIMPS:309800 ; + skos:exactMatch UMLS:C3554592, + UMLS:C5193017, + UMLS:C5193150 ; biolink:category biolink:Disease . OMIM:615147 a owl:Class ; @@ -452986,9 +469686,9 @@ OMIM:615147 a owl:Class ; PMID:23189188, PMID:2886863, PMID:9888420 ; - oboInOwl:hasDbXref UMLS:C3554593 ; oboInOwl:hasExactSynonym "RDCCAS", "retinal dystrophy, iris coloboma, and comedogenic acne syndrome" ; + skos:exactMatch UMLS:C3554593 ; biolink:category biolink:Disease . OMIM:615155 a owl:Class ; @@ -452999,20 +469699,20 @@ OMIM:615155 a owl:Class ; PMID:28322503, PMID:28895531, PMID:8423186 ; - oboInOwl:hasDbXref UMLS:C3554594 ; oboInOwl:hasExactSynonym "STLS", "dislocated hips and radial heads, carpal coalition, scoliosis, and short stature", "steel syndrome" ; + skos:exactMatch UMLS:C3554594 ; biolink:category biolink:Disease . OMIM:615156 a owl:Class ; rdfs:label "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6" ; IAO:0000142 PMID:23352259 ; - oboInOwl:hasDbXref UMLS:C3554599 ; oboInOwl:hasExactSynonym "PEOA6", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6", "progressive external ophthalmoplegia, autosomal dominant 6" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C3554599 ; biolink:category biolink:Disease . OMIM:615157 a owl:Class ; @@ -453021,59 +469721,59 @@ OMIM:615157 a owl:Class ; PMID:23532514, PMID:24368687, PMID:24397319 ; - oboInOwl:hasDbXref UMLS:C3554605 ; oboInOwl:hasExactSynonym "MC3DN2", "mitochondrial complex 3 deficiency, nuclear iia 2" ; rdfs:subClassOf OMIMPS:124000 ; + skos:exactMatch UMLS:C3554605 ; biolink:category biolink:Disease . OMIM:615158 a owl:Class ; rdfs:label "mitochondrial complex 3 deficiency, nuclear iia 3" ; IAO:0000142 PMID:12709789 ; - oboInOwl:hasDbXref UMLS:C3554606 ; oboInOwl:hasExactSynonym "MC3DN3", "mitochondrial complex 3 deficiency, nuclear iia 3" ; rdfs:subClassOf OMIMPS:124000 ; + skos:exactMatch UMLS:C3554606 ; biolink:category biolink:Disease . OMIM:615159 a owl:Class ; rdfs:label "mitochondrial complex 3 deficiency, nuclear iia 4" ; IAO:0000142 PMID:18439546 ; - oboInOwl:hasDbXref UMLS:C3554607 ; oboInOwl:hasExactSynonym "MC3DN4", "mitochondrial complex 3 deficiency, nuclear iia 4" ; rdfs:subClassOf OMIMPS:124000 ; + skos:exactMatch UMLS:C3554607 ; biolink:category biolink:Disease . OMIM:615160 a owl:Class ; rdfs:label "mitochondrial complex 3 deficiency, nuclear iia 5" ; IAO:0000142 PMID:23281071, PMID:28275242 ; - oboInOwl:hasDbXref UMLS:C3554608 ; oboInOwl:hasExactSynonym "MC3DN5", "mitochondrial complex 3 deficiency, nuclear iia 5" ; rdfs:subClassOf OMIMPS:124000 ; + skos:exactMatch UMLS:C3554608 ; biolink:category biolink:Disease . OMIM:615162 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 35" ; IAO:0000142 PMID:20950399 ; RO:0002525 CHR:9606chr17q21.31-q22 ; - oboInOwl:hasDbXref UMLS:C3554609 ; oboInOwl:hasExactSynonym "MRT35", "intellectual developmental disorder, autosomal recessive 35", "mental retardation, autosomal recessive 35" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3554609 ; biolink:category biolink:Disease . OMIM:615163 a owl:Class ; rdfs:label "cone-rod dystrophy 17" ; IAO:0000142 PMID:22929024 ; RO:0002525 CHR:9606chr10q26 ; - oboInOwl:hasDbXref UMLS:C3554610 ; oboInOwl:hasExactSynonym "CORD17", "cone-rod dystrophy 17" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C3554610 ; biolink:category biolink:Disease . OMIM:615174 a owl:Class ; @@ -453081,59 +469781,60 @@ OMIM:615174 a owl:Class ; IAO:0000142 PMID:11896452, PMID:12361482, PMID:19589965 ; - oboInOwl:hasDbXref UMLS:C3888000 ; oboInOwl:hasExactSynonym "TDH", "l-threonine dehydrogenase, pseudogene" ; - skos:exactMatch HGNC_symbol:TDH . + skos:exactMatch UMLS:C3888000, + HGNC:15547, + HGNC_symbol:TDH . OMIM:615179 a owl:Class ; rdfs:label "albinism, oculocutaneous, iia 7" ; IAO:0000142 PMID:23395477, PMID:24066960 ; - oboInOwl:hasDbXref UMLS:C3808786 ; oboInOwl:hasExactSynonym "OCA7", "albinism, oculocutaneous, iia 7" ; rdfs:subClassOf OMIMPS:203100 ; + skos:exactMatch UMLS:C3808786 ; biolink:category biolink:Disease . OMIM:615181 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11" ; IAO:0000142 PMID:23453667 ; - oboInOwl:hasDbXref UMLS:C3554638 ; oboInOwl:hasExactSynonym "MDDGA11", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11", "walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3554638 ; biolink:category biolink:Disease . OMIM:615185 a owl:Class ; rdfs:label "charcot-marie-tooth disease, dominant intermediate f" ; IAO:0000142 PMID:20627571, PMID:23434117 ; - oboInOwl:hasDbXref UMLS:C3554654 ; oboInOwl:hasExactSynonym "CMTDIF", "charcot-marie-tooth disease, dominant intermediate f" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3554654 ; biolink:category biolink:Disease . OMIM:615188 a owl:Class ; rdfs:label "cataract 39, multiple types" ; IAO:0000142 PMID:23288985 ; - oboInOwl:hasDbXref UMLS:C3808800, - ORPHA:91492 ; oboInOwl:hasExactSynonym "CTRCT39", "cataract 39, multiple types" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3808800, + ORPHA:91492 ; biolink:category biolink:Disease . OMIM:615191 a owl:Class ; rdfs:label "lissencephaly 5" ; IAO:0000142 PMID:23472759, PMID:25925986 ; - oboInOwl:hasDbXref UMLS:C3554657 ; oboInOwl:hasExactSynonym "LIS5", "lissencephaly 5" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C3554657 ; biolink:category biolink:Disease . OMIM:615192 a owl:Class ; @@ -453143,19 +469844,19 @@ OMIM:615192 a owl:Class ; PMID:20490451, PMID:23202124 ; RO:0002525 CHR:9606chr6p22.3 ; - oboInOwl:hasDbXref UMLS:C3554662 ; oboInOwl:hasExactSynonym "BWQTL4", "birth weight quantitative trait locus 4" ; + skos:exactMatch UMLS:C3554662 ; biolink:category biolink:Disease . OMIM:615193 a owl:Class ; rdfs:label "bleeding disorder, platelet-type, 15" ; IAO:0000142 PMID:23434115 ; - oboInOwl:hasDbXref UMLS:C3554663 ; oboInOwl:hasExactSynonym "BDPLT15", "bleeding disorder, platelet-type, 15", "macrothrombocytopenia, autosomal dominant, actn1-related" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C3554663 ; biolink:category biolink:Disease . OMIM:615197 a owl:Class ; @@ -453163,10 +469864,10 @@ OMIM:615197 a owl:Class ; IAO:0000142 PMID:12764067, PMID:23192925 ; RO:0002525 CHR:9606chr5q31 ; - oboInOwl:hasDbXref UMLS:C3554664 ; oboInOwl:hasExactSynonym "RLS8", "restless legs syndrome, susceptibility to, 8" ; rdfs:subClassOf OMIMPS:102300 ; + skos:exactMatch UMLS:C3554664 ; biolink:category biolink:Disease . OMIM:615198 a owl:Class ; @@ -453175,39 +469876,39 @@ OMIM:615198 a owl:Class ; PMID:23610867, PMID:27055475, PMID:8255649 ; - oboInOwl:hasDbXref UMLS:C3554665, - ORPHA:500548 ; oboInOwl:hasExactSynonym "OSMD", "osteosclerotic metaphyseal dysplasia" ; + skos:exactMatch UMLS:C3554665, + ORPHA:500548 ; biolink:category biolink:Disease . OMIM:615217 a owl:Class ; rdfs:label "ataxia-oculomotor apraxia 3" ; IAO:0000142 PMID:22065524 ; - oboInOwl:hasDbXref UMLS:C3554690 ; oboInOwl:hasExactSynonym "AOA3", "ataxia-oculomotor apraxia 3" ; + skos:exactMatch UMLS:C3554690 ; biolink:category biolink:Disease . OMIM:615219 a owl:Class ; rdfs:label "hydrocephalus, congenital, 2, with or without brain or eye anomalies" ; IAO:0000142 PMID:23240096, PMID:28556411 ; - oboInOwl:hasDbXref UMLS:C3554691 ; oboInOwl:hasExactSynonym "HYC2", "hydrocephalus, congenital, 2, with or without brain or eye anomalies", "hydrocephalus, nonsyndromic, autosomal recessive 2, formerly" ; rdfs:subClassOf OMIMPS:236600 ; + skos:exactMatch UMLS:C3554691 ; biolink:category biolink:Disease . OMIM:615221 a owl:Class ; rdfs:label "bone mineral density quantitative trait locus 16" ; IAO:0000142 PMID:23499309, PMID:23656646 ; - oboInOwl:hasDbXref UMLS:C3714945 ; oboInOwl:hasExactSynonym "BMND16", "bone mineral density quantitative trait locus 16", "osteoporosis, early-onset, susceptibility to" ; + skos:exactMatch UMLS:C3714945 ; biolink:category biolink:Disease . OMIM:615222 a owl:Class ; @@ -453216,10 +469917,10 @@ OMIM:615222 a owl:Class ; PMID:22652534, PMID:23042644, PMID:28127940 ; - oboInOwl:hasDbXref UMLS:C3714896 ; oboInOwl:hasExactSynonym "SMC2", "smith-mccort dysplasia 2" ; rdfs:subClassOf OMIMPS:607326 ; + skos:exactMatch UMLS:C3714896 ; biolink:category biolink:Disease . OMIM:615224 a owl:Class ; @@ -453227,10 +469928,10 @@ OMIM:615224 a owl:Class ; IAO:0000142 PMID:10470086, PMID:15800623, PMID:23636092 ; - oboInOwl:hasDbXref UMLS:C3808874 ; oboInOwl:hasExactSynonym "FASPS2", "advanced sleep phase syndrome, familial, 2" ; rdfs:subClassOf OMIMPS:604348 ; + skos:exactMatch UMLS:C3808874 ; biolink:category biolink:Disease . OMIM:615225 a owl:Class ; @@ -453238,69 +469939,69 @@ OMIM:615225 a owl:Class ; IAO:0000142 PMID:23349227, PMID:25050600, PMID:27662089 ; - oboInOwl:hasDbXref UMLS:C3808876, - ORPHA:352662 ; oboInOwl:hasExactSynonym "MSPC", "corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly", "palmoplantar carcinoma, multiple self-healing" ; + skos:exactMatch UMLS:C3808876, + ORPHA:352662 ; biolink:category biolink:Disease . OMIM:615226 a owl:Class ; rdfs:label "polydactyly, postaxial, iia a6" ; IAO:0000142 PMID:23160277 ; - oboInOwl:hasDbXref UMLS:C3808889 ; oboInOwl:hasExactSynonym "PAPA6", "polydactyly, postaxial, iia a6" ; rdfs:subClassOf OMIMPS:174200 ; + skos:exactMatch UMLS:C3808889 ; biolink:category biolink:Disease . OMIM:615228 a owl:Class ; rdfs:label "mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4" ; IAO:0000142 PMID:23599390 ; - oboInOwl:hasDbXref UMLS:C3808899, - ORPHA:254913 ; oboInOwl:hasExactSynonym "MC5DN4", "mitochondrial complex 5 (atp synthase) deficiency, atp5a1 iia", "mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 4" ; rdfs:subClassOf OMIMPS:604273 ; + skos:exactMatch UMLS:C3808899, + ORPHA:254913 ; biolink:category biolink:Disease . OMIM:615232 a owl:Class ; rdfs:label "schizophrenia 18" ; IAO:0000142 PMID:21982423, PMID:23341099 ; - oboInOwl:hasDbXref UMLS:C3808913 ; oboInOwl:hasExactSynonym "SCZD18", "schizophrenia 18", "schizophrenia 18 with or without an affective disorder" ; + skos:exactMatch UMLS:C3808913 ; biolink:category biolink:Disease . OMIM:615233 a owl:Class ; rdfs:label "retinitis pigmentosa 66" ; IAO:0000142 PMID:19074801, PMID:21067480 ; - oboInOwl:hasDbXref UMLS:C3715216 ; oboInOwl:hasExactSynonym "RP66", "retinitis pigmentosa 66" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3715216 ; biolink:category biolink:Disease . OMIM:615234 a owl:Class ; rdfs:label "anemia, hypochromic microcytic, with iron overload 2" ; IAO:0000142 PMID:22031863 ; - oboInOwl:hasDbXref UMLS:C3808920 ; oboInOwl:hasExactSynonym "AHMIO2", "anemia, hypochromic microcytic, with iron overload 2" ; rdfs:subClassOf OMIMPS:206100 ; + skos:exactMatch UMLS:C3808920 ; biolink:category biolink:Disease . OMIM:615235 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 1jj" ; IAO:0000142 PMID:17646580 ; - oboInOwl:hasDbXref UMLS:C3808935 ; oboInOwl:hasExactSynonym "CMD1JJ", "cardiomyopathy, dilated, 1jj" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C3808935 ; biolink:category biolink:Disease . OMIM:615237 a owl:Class ; @@ -453311,20 +470012,20 @@ OMIM:615237 a owl:Class ; PMID:2005514, PMID:22155368, PMID:5765427 ; - oboInOwl:hasDbXref UMLS:C0021847 ; oboInOwl:hasExactSynonym "CSBS", "congenital short bowel syndrome" ; + skos:exactMatch UMLS:C0021847 ; biolink:category biolink:Disease . OMIM:615238 a owl:Class ; rdfs:label "lipodystrophy, familial partial, iia 5" ; IAO:0000142 PMID:18654663, PMID:20049731 ; - oboInOwl:hasDbXref UMLS:C3808940 ; oboInOwl:hasExactSynonym "FPLD5", "lipodystrophy, familial partial, iia 5", "lipodystrophy, familial partial, associated with cidec mutations" ; rdfs:subClassOf OMIMPS:151660 ; + skos:exactMatch UMLS:C3808940 ; biolink:category biolink:Disease . OMIM:615244 a owl:Class ; @@ -453332,10 +470033,10 @@ OMIM:615244 a owl:Class ; IAO:0000142 PMID:19029984, PMID:23434736, PMID:23867502 ; - oboInOwl:hasDbXref UMLS:C3808953 ; oboInOwl:hasExactSynonym "NPHS8", "nephrotic syndrome, iia 8" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C3808953 ; biolink:category biolink:Disease . OMIM:615249 a owl:Class ; @@ -453344,11 +470045,11 @@ OMIM:615249 a owl:Class ; PMID:23519211, PMID:24556084, PMID:24925318 ; - oboInOwl:hasDbXref UMLS:C3808964 ; oboInOwl:hasExactSynonym "MDDGA12", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 12", "walker-warburg syndrome or muscle-eye-brain disease, pomk-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3808964 ; biolink:category biolink:Disease . OMIM:615264 a owl:Class ; @@ -453358,31 +470059,31 @@ OMIM:615264 a owl:Class ; PMID:23505126, PMID:23563606, PMID:23563608 ; - oboInOwl:hasDbXref UMLS:C2745907, - UMLS:C3808966 ; oboInOwl:hasExactSynonym "VEL", "blood group, vel system", "vel-null phenotype" ; + skos:exactMatch UMLS:C2745907, + UMLS:C3808966 ; biolink:category biolink:Disease . OMIM:615266 a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 17 with or without anosmia" ; IAO:0000142 PMID:17761590, PMID:23643382 ; - oboInOwl:hasDbXref UMLS:C3808971 ; oboInOwl:hasExactSynonym "HH17", "hypogonadotropic hypogonadism 17 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3808971 ; biolink:category biolink:Disease . OMIM:615267 a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 18 with or without anosmia" ; IAO:0000142 PMID:17761590, PMID:23643382 ; - oboInOwl:hasDbXref UMLS:C3808975 ; oboInOwl:hasExactSynonym "HH18", "hypogonadotropic hypogonadism 18 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3808975 ; biolink:category biolink:Disease . OMIM:615268 a owl:Class ; @@ -453393,21 +470094,21 @@ OMIM:615268 a owl:Class ; PMID:18544652, PMID:21885617, PMID:22892528 ; - oboInOwl:hasDbXref UMLS:C3808977 ; oboInOwl:hasExactSynonym "CAMRQ4", "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4", "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" ; rdfs:subClassOf OMIMPS:224050 ; + skos:exactMatch UMLS:C3808977 ; biolink:category biolink:Disease . OMIM:615269 a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 19 with or without anosmia" ; IAO:0000142 PMID:17761590, PMID:23643382 ; - oboInOwl:hasDbXref UMLS:C3808981 ; oboInOwl:hasExactSynonym "HH19", "hypogonadotropic hypogonadism 19 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3808981 ; biolink:category biolink:Disease . OMIM:615270 a owl:Class ; @@ -453416,10 +470117,10 @@ OMIM:615270 a owl:Class ; PMID:21700882, PMID:23643382, PMID:6881209 ; - oboInOwl:hasDbXref UMLS:C3808983 ; oboInOwl:hasExactSynonym "HH20", "hypogonadotropic hypogonadism 20 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3808983 ; biolink:category biolink:Disease . OMIM:615271 a owl:Class ; @@ -453428,10 +470129,10 @@ OMIM:615271 a owl:Class ; PMID:21700882, PMID:23643382, PMID:6881209 ; - oboInOwl:hasDbXref UMLS:C3808986 ; oboInOwl:hasExactSynonym "HH21", "hypogonadotropic hypogonadism 21 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C3808986 ; biolink:category biolink:Disease . OMIM:615273 a owl:Class ; @@ -453443,13 +470144,13 @@ OMIM:615273 a owl:Class ; PMID:29550355, PMID:31311714, PMID:31957011 ; - oboInOwl:hasDbXref UMLS:C3808991, - ORPHA:404454 ; oboInOwl:hasExactSynonym "CDDG1", "congenital disorder of deglycosylation", "congenital disorder of deglycosylation 1", "congenital disorder of glycosylation, iia iv, formerly" ; rdfs:subClassOf OMIMPS:615273 ; + skos:exactMatch UMLS:C3808991, + ORPHA:404454 ; biolink:category biolink:Disease . OMIM:615274 a owl:Class ; @@ -453458,20 +470159,20 @@ OMIM:615274 a owl:Class ; PMID:10937580, PMID:16564824, PMID:3456204 ; - oboInOwl:hasDbXref UMLS:C3809001 ; oboInOwl:hasExactSynonym "CTRCT15", "cataract 15, multiple types" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3809001 ; biolink:category biolink:Disease . OMIM:615277 a owl:Class ; rdfs:label "cataract 19, multiple types" ; IAO:0000142 PMID:11917274, PMID:18596884 ; - oboInOwl:hasDbXref UMLS:C3809004 ; oboInOwl:hasExactSynonym "CTRCT19", "cataract 19, multiple types" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3809004 ; biolink:category biolink:Disease . OMIM:615280 a owl:Class ; @@ -453480,20 +470181,20 @@ OMIM:615280 a owl:Class ; PMID:18042262, PMID:20358587, PMID:21178588 ; - oboInOwl:hasDbXref UMLS:C3809007, - ORPHA:1340 ; oboInOwl:hasExactSynonym "CFC4", "cardiofaciocutaneous syndrome 4" ; rdfs:subClassOf OMIMPS:115150 ; + skos:exactMatch UMLS:C3809007, + ORPHA:1340 ; biolink:category biolink:Disease . OMIM:615281 a owl:Class ; rdfs:label "hypomyelination with brainstem and spinal cord involvement and leg spasticity" ; IAO:0000142 PMID:23643384 ; - oboInOwl:hasDbXref UMLS:C3809008 ; oboInOwl:hasExactSynonym "HBSL", "aspartyl-trna synthetase deficiency", "hypomyelination with brainstem and spinal cord involvement and leg spasticity" ; + skos:exactMatch UMLS:C3809008 ; biolink:category biolink:Disease . OMIM:615282 a owl:Class ; @@ -453501,10 +470202,10 @@ OMIM:615282 a owl:Class ; IAO:0000142 PMID:23033978, PMID:23603762, PMID:24812067 ; - oboInOwl:hasDbXref UMLS:C3809013 ; oboInOwl:hasExactSynonym "CDCBM2", "cortical dysplasia, complex, with other brain malformations 2" ; rdfs:subClassOf OMIMPS:614039 ; + skos:exactMatch UMLS:C3809013 ; biolink:category biolink:Disease . OMIM:615284 a owl:Class ; @@ -453512,20 +470213,20 @@ OMIM:615284 a owl:Class ; IAO:0000142 PMID:21210780, PMID:23749797, PMID:24799518 ; - oboInOwl:hasDbXref UMLS:C3695063 ; oboInOwl:hasExactSynonym "CMT4B3", "charcot-marie-tooth disease, iia 4b3" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3695063 ; biolink:category biolink:Disease . OMIM:615285 a owl:Class ; rdfs:label "neutropenia, severe congenital, 5, autosomal recessive" ; IAO:0000142 PMID:23599270, PMID:23738510 ; - oboInOwl:hasDbXref UMLS:C3809031 ; oboInOwl:hasExactSynonym "SCN5", "neutropenia, severe congenital, 5, autosomal recessive" ; rdfs:subClassOf OMIMPS:202700 ; + skos:exactMatch UMLS:C3809031 ; biolink:category biolink:Disease . OMIM:615286 a owl:Class ; @@ -453533,46 +470234,46 @@ OMIM:615286 a owl:Class ; IAO:0000142 PMID:23620220, PMID:26842963, PMID:29796286 ; - oboInOwl:hasDbXref UMLS:C3809039, - ORPHA:363528 ; oboInOwl:hasExactSynonym "NEDBGF", "mental retardation, autosomal recessive 36, formerly", "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3809039, + ORPHA:363528 ; biolink:category biolink:Disease . OMIM:615287 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 13" ; IAO:0000142 PMID:23359570, PMID:23877401 ; - oboInOwl:hasDbXref UMLS:C3809042 ; oboInOwl:hasExactSynonym "MDDGA13", "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 13", "walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related" ; rdfs:subClassOf OMIMPS:236670 ; + skos:exactMatch UMLS:C3809042 ; biolink:category biolink:Disease . OMIM:615294 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 21" ; IAO:0000142 PMID:12746204, PMID:23354437 ; - oboInOwl:hasDbXref UMLS:C3809087, - ORPHA:244 ; oboInOwl:hasExactSynonym "CILD21", "ciliary dyskinesia, primary, 21", "ciliary dyskinesia, primary, 21, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3809087, + ORPHA:244 ; biolink:category biolink:Disease . OMIM:615297 a owl:Class ; rdfs:label "adams-oliver syndrome 4" ; IAO:0000142 PMID:23522784, PMID:31368252 ; - oboInOwl:hasDbXref UMLS:C3809092, - ORPHA:974 ; oboInOwl:hasExactSynonym "AOS4", "adams-oliver syndrome 4" ; rdfs:subClassOf OMIMPS:100300 ; + skos:exactMatch UMLS:C3809092, + ORPHA:974 ; biolink:category biolink:Disease . OMIM:615300 a owl:Class ; @@ -453583,19 +470284,19 @@ OMIM:615300 a owl:Class ; PMID:30737337, PMID:32423379, PMID:32442335 ; - oboInOwl:hasDbXref UMLS:C3809105 ; oboInOwl:hasExactSynonym "PRLTS4", "perrault syndrome 4" ; rdfs:subClassOf OMIMPS:233400 ; + skos:exactMatch UMLS:C3809105 ; biolink:category biolink:Disease . OMIM:615311 a owl:Class ; rdfs:label "bone mineral density quantitative trait locus 17" ; IAO:0000142 PMID:23644456 ; - oboInOwl:hasDbXref UMLS:C3714987 ; oboInOwl:hasExactSynonym "BMND17", "bone mineral density quantitative trait locus 17", "bone mineral density, low, susceptibility to" ; + skos:exactMatch UMLS:C3714987 ; biolink:category biolink:Disease . OMIM:615312 a owl:Class ; @@ -453603,20 +470304,20 @@ OMIM:615312 a owl:Class ; IAO:0000142 PMID:23050561, PMID:24066960 ; RO:0002525 CHR:9606chr4q24 ; - oboInOwl:hasDbXref UMLS:C3888401 ; oboInOwl:hasExactSynonym "OCA5", "albinism, oculocutaneous, iia 5" ; rdfs:subClassOf OMIMPS:203100 ; + skos:exactMatch UMLS:C3888401 ; biolink:category biolink:Disease . OMIM:615327 a owl:Class ; rdfs:label "dowling-degos disease 2" ; IAO:0000142 PMID:23018017, PMID:23684010 ; - oboInOwl:hasDbXref UMLS:C3809147 ; oboInOwl:hasExactSynonym "DDD2", "dowling-degos disease 2" ; rdfs:subClassOf OMIMPS:179850 ; + skos:exactMatch UMLS:C3809147 ; biolink:category biolink:Disease . OMIM:615328 a owl:Class ; @@ -453624,9 +470325,9 @@ OMIM:615328 a owl:Class ; IAO:0000142 PMID:23606727, PMID:24667118, PMID:24667119 ; - oboInOwl:hasDbXref UMLS:C3809160 ; oboInOwl:hasExactSynonym "SHNS", "shaheen syndrome" ; + skos:exactMatch UMLS:C3809160 ; biolink:category biolink:Disease . OMIM:615330 a owl:Class ; @@ -453636,10 +470337,10 @@ OMIM:615330 a owl:Class ; PMID:27785568, PMID:28671726, PMID:28913435 ; - oboInOwl:hasDbXref UMLS:C3809165 ; oboInOwl:hasExactSynonym "MMDS3", "multiple mitochondrial dysfunctions syndrome 3" ; rdfs:subClassOf OMIMPS:605711 ; + skos:exactMatch UMLS:C3809165 ; biolink:category biolink:Disease . OMIM:615342 a owl:Class ; @@ -453648,10 +470349,10 @@ OMIM:615342 a owl:Class ; PMID:19419974, PMID:21898662, PMID:21920918 ; - oboInOwl:hasDbXref UMLS:C3888002 ; oboInOwl:hasExactSynonym "PPH2", "pulmonary hypertension, primary, 2" ; rdfs:subClassOf OMIMPS:178600 ; + skos:exactMatch UMLS:C3888002 ; biolink:category biolink:Disease . OMIM:615343 a owl:Class ; @@ -453660,47 +470361,45 @@ OMIM:615343 a owl:Class ; PMID:12177436, PMID:19487814, PMID:22474227 ; - oboInOwl:hasDbXref UMLS:C3809192 ; oboInOwl:hasExactSynonym "PPH3", "pulmonary hypertension, primary, 3" ; rdfs:subClassOf OMIMPS:178600 ; + skos:exactMatch UMLS:C3809192 ; biolink:category biolink:Disease . OMIM:615344 a owl:Class ; rdfs:label "pulmonary hypertension, primary, 4" ; IAO:0000142 PMID:23883380 ; - oboInOwl:hasDbXref UMLS:C3809198 ; oboInOwl:hasExactSynonym "PPH4", "pulmonary hypertension, primary, 4" ; rdfs:subClassOf OMIMPS:178600 ; + skos:exactMatch UMLS:C3809198 ; biolink:category biolink:Disease . OMIM:615346 a owl:Class ; rdfs:label "precocious puberty, central, 2" ; IAO:0000142 PMID:23738509 ; - oboInOwl:hasDbXref UMLS:C3809199 ; oboInOwl:hasExactSynonym "CPPB2", "precocious puberty, central, 2" ; rdfs:subClassOf OMIMPS:176400 ; + skos:exactMatch UMLS:C3809199 ; biolink:category biolink:Disease . OMIM:615348 a owl:Class ; rdfs:label "nemaline myopathy 8" ; IAO:0000142 PMID:23746549, PMID:24960163 ; - oboInOwl:hasDbXref UMLS:C3809209, - ORPHA:171430 ; oboInOwl:hasExactSynonym "NEM8", "nemaline myopathy 8" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C3809209, + ORPHA:171430 ; biolink:category biolink:Disease . OMIM:615352 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14" ; IAO:0000142 PMID:23768512, PMID:26133662 ; - oboInOwl:hasDbXref UMLS:C3714932, - ORPHA:363623 ; oboInOwl:hasExactSynonym "MDDGC14", "muscular dystrophy, limb-girdle, iia 2t", "muscular dystrophy, limb-girdle, autosomal recessive 19", @@ -453708,6 +470407,8 @@ OMIM:615352 a owl:Class ; "muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related" ; rdfs:subClassOf OMIMPS:253600, OMIMPS:609308 ; + skos:exactMatch UMLS:C3714932, + ORPHA:363623 ; biolink:category biolink:Disease . OMIM:615355 a owl:Class ; @@ -453720,10 +470421,10 @@ OMIM:615355 a owl:Class ; PMID:27101134, PMID:27684038, PMID:27684039 ; - oboInOwl:hasDbXref UMLS:C3809233 ; oboInOwl:hasExactSynonym "NS8", "noonan syndrome 8" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C3809233 ; biolink:category biolink:Disease . OMIM:615356 a owl:Class ; @@ -453734,11 +470435,11 @@ OMIM:615356 a owl:Class ; PMID:27707803, PMID:28827486, PMID:30055862 ; - oboInOwl:hasDbXref UMLS:C4517996 ; oboInOwl:hasExactSynonym "LGMDR18", "muscular dystrophy, limb-girdle, iia 2s", "muscular dystrophy, limb-girdle, autosomal recessive 18" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C4517996 ; biolink:category biolink:Disease . OMIM:615362 a owl:Class ; @@ -453746,21 +470447,21 @@ OMIM:615362 a owl:Class ; IAO:0000142 PMID:16508006, PMID:23297359, PMID:25274848 ; - oboInOwl:hasDbXref UMLS:C3715049 ; oboInOwl:hasExactSynonym "CLN13", "ceroid lipofuscinosis, neuronal, 13 (kufs type)" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C3715049 ; biolink:category biolink:Disease . OMIM:615368 a owl:Class ; rdfs:label "lethal congenital contracture syndrome 5" ; IAO:0000142 PMID:23092955 ; - oboInOwl:hasDbXref UMLS:C3809272, - ORPHA:363409 ; oboInOwl:hasExactSynonym "LCCS5", "lethal congenital contracture syndrome 5", "myopathy, centronuclear, lethal, autosomal recessive" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C3809272, + ORPHA:363409 ; biolink:category biolink:Disease . OMIM:615369 a owl:Class ; @@ -453769,13 +470470,13 @@ OMIM:615369 a owl:Class ; PMID:23708187, PMID:24207121, PMID:29740950 ; - oboInOwl:hasDbXref UMLS:C3809278, - ORPHA:1942, - ORPHA:2382 ; oboInOwl:hasExactSynonym "DEE94", "developmental and epileptic encephalopathy 94", "epileptic encephalopathy, childhood-onset" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3809278, + ORPHA:1942, + ORPHA:2382 ; biolink:category biolink:Disease . OMIM:615371 a owl:Class ; @@ -453783,9 +470484,9 @@ OMIM:615371 a owl:Class ; IAO:0000142 PMID:11407344, PMID:17188582, PMID:21767969 ; - oboInOwl:hasDbXref UMLS:C3714958 ; oboInOwl:hasExactSynonym "PHN", "pulmonary hypertension, neonatal, susceptibility to" ; + skos:exactMatch UMLS:C3714958 ; biolink:category biolink:Disease . OMIM:615373 a owl:Class ; @@ -453793,42 +470494,42 @@ OMIM:615373 a owl:Class ; IAO:0000142 PMID:18506004, PMID:21551322, PMID:23768516 ; - oboInOwl:hasDbXref UMLS:C3809288, - UMLS:C3809289 ; oboInOwl:hasExactSynonym "LVNC8", "cardiomyopathy, dilated, 1ll", "left ventricular noncompaction 8" ; rdfs:subClassOf OMIMPS:115200, OMIMPS:604169 ; + skos:exactMatch UMLS:C3809288, + UMLS:C3809289 ; biolink:category biolink:Disease . OMIM:615374 a owl:Class ; rdfs:label "cone-rod dystrophy 18" ; IAO:0000142 PMID:23746546, PMID:25356532 ; - oboInOwl:hasDbXref UMLS:C3809299 ; oboInOwl:hasExactSynonym "CORD18", "cone-rod dystrophy 18" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C3809299 ; biolink:category biolink:Disease . OMIM:615378 a owl:Class ; rdfs:label "atrial fibrillation, familial, 14" ; IAO:0000142 PMID:19808477, PMID:9070470 ; - oboInOwl:hasDbXref UMLS:C3809312 ; oboInOwl:hasExactSynonym "ATFB14", "atrial fibrillation, familial, 14" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C3809312 ; biolink:category biolink:Disease . OMIM:615382 a owl:Class ; rdfs:label "nephronophthisis 16" ; IAO:0000142 PMID:23793029 ; - oboInOwl:hasDbXref UMLS:C3809320 ; oboInOwl:hasExactSynonym "NPHP16", "nephronophthisis 16" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C3809320 ; biolink:category biolink:Disease . OMIM:615386 a owl:Class ; @@ -453836,41 +470537,41 @@ OMIM:615386 a owl:Class ; IAO:0000142 PMID:22781464, PMID:23236289, PMID:23838597 ; - oboInOwl:hasDbXref UMLS:C3809327 ; oboInOwl:hasExactSynonym "SCAR14", "cerebellar ataxia, autosomal recessive, spectrin-associated, 1", "spinocerebellar ataxia, autosomal recessive 14" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C3809327 ; biolink:category biolink:Disease . OMIM:615387 a owl:Class ; rdfs:label "immunodeficiency 7" ; IAO:0000142 PMID:21206088 ; - oboInOwl:hasDbXref UMLS:C3809332 ; oboInOwl:hasExactSynonym "IMD7", "immunodeficiency 7", "t-cell receptor-alpha/beta deficiency", "tcr-alpha/beta deficiency" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3809332 ; biolink:category biolink:Disease . OMIM:615390 a owl:Class ; rdfs:label "vesicoureteral reflux 7" ; IAO:0000142 PMID:19443636 ; RO:0002525 CHR:9606chr12p11-q13 ; - oboInOwl:hasDbXref UMLS:C3809337 ; oboInOwl:hasExactSynonym "VUR7", "vesicoureteral reflux 7" ; rdfs:subClassOf OMIMPS:193000 ; + skos:exactMatch UMLS:C3809337 ; biolink:category biolink:Disease . OMIM:615395 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 16" ; IAO:0000142 PMID:23315540 ; - oboInOwl:hasDbXref UMLS:C3809339 ; oboInOwl:hasExactSynonym "COXPD16", "combined oxidative phosphorylation deficiency 16" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3809339 ; biolink:category biolink:Disease . OMIM:615396 a owl:Class ; @@ -453882,22 +470583,22 @@ OMIM:615396 a owl:Class ; PMID:19412328, PMID:20215591, PMID:21551322 ; - oboInOwl:hasDbXref UMLS:C3715165, - UMLS:C3809346 ; oboInOwl:hasExactSynonym "LVNC10", "cardiomyopathy, dilated, 1mm", "left ventricular noncompaction 10" ; rdfs:subClassOf OMIMPS:115200, OMIMPS:604169 ; + skos:exactMatch UMLS:C3715165, + UMLS:C3809346 ; biolink:category biolink:Disease . OMIM:615397 a owl:Class ; rdfs:label "meckel syndrome, iia 11" ; IAO:0000142 PMID:23349226 ; - oboInOwl:hasDbXref UMLS:C3809352 ; oboInOwl:hasExactSynonym "MKS11", "meckel syndrome, iia 11" ; rdfs:subClassOf OMIMPS:249000 ; + skos:exactMatch UMLS:C3809352 ; biolink:category biolink:Disease . OMIM:615398 a owl:Class ; @@ -453908,11 +470609,11 @@ OMIM:615398 a owl:Class ; PMID:25943031, PMID:27916860, PMID:28728837 ; - oboInOwl:hasDbXref UMLS:C3809356 ; oboInOwl:hasExactSynonym "MCAHS3", "glycosylphosphatidylinositol biosynthesis defect 7", "multiple congenital anomalies-hypotonia-seizures syndrome 3" ; rdfs:subClassOf OMIMPS:614080 ; + skos:exactMatch UMLS:C3809356 ; biolink:category biolink:Disease . OMIM:615400 a owl:Class ; @@ -453920,11 +470621,11 @@ OMIM:615400 a owl:Class ; IAO:0000142 PMID:23518707, PMID:23803302, PMID:23803304 ; - oboInOwl:hasDbXref UMLS:C3809374 ; oboInOwl:hasExactSynonym "FAME5", "cortical myoclonic tremor with epilepsy, familial, 5", "epilepsy, familial adult myoclonic, 5" ; rdfs:subClassOf OMIMPS:601068 ; + skos:exactMatch UMLS:C3809374 ; biolink:category biolink:Disease . OMIM:615401 a owl:Class ; @@ -453933,47 +470634,47 @@ OMIM:615401 a owl:Class ; PMID:19097825, PMID:23522482, PMID:25073507 ; - oboInOwl:hasDbXref UMLS:C3809383 ; oboInOwl:hasExactSynonym "IMD8", "immunodeficiency 8" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3809383 ; biolink:category biolink:Disease . OMIM:615411 a owl:Class ; rdfs:label "cortical dysplasia, complex, with other brain malformations 3" ; IAO:0000142 PMID:23603762 ; - oboInOwl:hasDbXref UMLS:C3809414 ; oboInOwl:hasExactSynonym "CDCBM3", "cortical dysplasia, complex, with other brain malformations 3" ; rdfs:subClassOf OMIMPS:614039 ; + skos:exactMatch UMLS:C3809414 ; biolink:category biolink:Disease . OMIM:615412 a owl:Class ; rdfs:label "cortical dysplasia, complex, with other brain malformations 4" ; IAO:0000142 PMID:23603762 ; - oboInOwl:hasDbXref UMLS:C3809420 ; oboInOwl:hasExactSynonym "CDCBM4", "cortical dysplasia, complex, with other brain malformations 4" ; rdfs:subClassOf OMIMPS:614039 ; + skos:exactMatch UMLS:C3809420 ; biolink:category biolink:Disease . OMIM:615413 a owl:Class ; rdfs:label "spermatogenic failure 12" ; IAO:0000142 PMID:23315541 ; - oboInOwl:hasDbXref UMLS:C3809427 ; oboInOwl:hasExactSynonym "SPGF12", "spermatogenic failure 12" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C3809427 ; biolink:category biolink:Disease . OMIM:615414 a owl:Class ; rdfs:label "microcephaly 11, primary, autosomal recessive" ; IAO:0000142 PMID:23418308 ; - oboInOwl:hasDbXref UMLS:C3809431, - ORPHA:2512 ; oboInOwl:hasExactSynonym "MCPH11", "microcephaly 11, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C3809431, + ORPHA:2512 ; biolink:category biolink:Disease . OMIM:615415 a owl:Class ; @@ -453985,10 +470686,10 @@ OMIM:615415 a owl:Class ; PMID:26697755, PMID:26862157, PMID:26967905 ; - oboInOwl:hasDbXref UMLS:C3809434 ; oboInOwl:hasExactSynonym "RHPD2", "renal-hepatic-pancreatic dysplasia 2" ; rdfs:subClassOf OMIMPS:208540 ; + skos:exactMatch UMLS:C3809434 ; biolink:category biolink:Disease . OMIM:615419 a owl:Class ; @@ -453996,20 +470697,20 @@ OMIM:615419 a owl:Class ; IAO:0000142 PMID:12558119, PMID:23749988, PMID:24075186 ; - oboInOwl:hasDbXref UMLS:C3809454 ; oboInOwl:hasExactSynonym "IHPRF1", "hypotonia, infantile, with psychomotor retardation and characteristic facies 1", "ihprf" ; rdfs:subClassOf OMIMPS:615419 ; + skos:exactMatch UMLS:C3809454 ; biolink:category biolink:Disease . OMIM:615420 a owl:Class ; rdfs:label "myopia 22, autosomal dominant" ; IAO:0000142 PMID:23579484 ; - oboInOwl:hasDbXref UMLS:C3809464 ; oboInOwl:hasExactSynonym "MYP22", "myopia 22, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C3809464 ; biolink:category biolink:Disease . OMIM:615422 a owl:Class ; @@ -454018,67 +470719,67 @@ OMIM:615422 a owl:Class ; PMID:23455423, PMID:24119545, PMID:24612671 ; - oboInOwl:hasDbXref UMLS:C3809468 ; oboInOwl:hasExactSynonym "IBMPFD2", "inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2", "multisystem proteinopathy 2" ; rdfs:subClassOf OMIMPS:167320 ; + skos:exactMatch UMLS:C3809468 ; biolink:category biolink:Disease . OMIM:615425 a owl:Class ; rdfs:label "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency" ; IAO:0000142 PMID:20164846, PMID:22113475 ; - oboInOwl:hasDbXref UMLS:C3809470 ; oboInOwl:hasExactSynonym "EBS3", "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C3809470 ; biolink:category biolink:Disease . OMIM:615426 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 20" ; IAO:0000142 PMID:23455423 ; - oboInOwl:hasDbXref UMLS:C3715156 ; oboInOwl:hasExactSynonym "ALS20", "amyotrophic lateral sclerosis 20" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C3715156 ; biolink:category biolink:Disease . OMIM:615429 a owl:Class ; rdfs:label "deafness, autosomal recessive 88" ; IAO:0000142 PMID:24039609 ; - oboInOwl:hasDbXref UMLS:C2829267 ; oboInOwl:hasExactSynonym "DFNB88", "deafness, autosomal recessive 88" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C2829267 ; biolink:category biolink:Disease . OMIM:615431 a owl:Class ; rdfs:label "myopia 23, autosomal recessive" ; IAO:0000142 PMID:23830514 ; - oboInOwl:hasDbXref UMLS:C3809482 ; oboInOwl:hasExactSynonym "MYP23", "myopia 23, autosomal recessive" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C3809482 ; biolink:category biolink:Disease . OMIM:615432 a owl:Class ; rdfs:label "specific language impairment 5" ; IAO:0000142 PMID:23810381 ; - oboInOwl:hasDbXref UMLS:C3809483 ; oboInOwl:hasExactSynonym "SLI5", "specific language impairment 5" ; rdfs:subClassOf OMIMPS:606711 ; + skos:exactMatch UMLS:C3809483 ; biolink:category biolink:Disease . OMIM:615434 a owl:Class ; rdfs:label "retinitis pigmentosa 82 with or without situs inversus" ; IAO:0000142 PMID:23849777, PMID:27790702 ; - oboInOwl:hasDbXref UMLS:C4747737 ; oboInOwl:hasExactSynonym "RP82", "retinitis pigmentosa 82 with or without situs inversus" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4747737 ; biolink:category biolink:Disease . OMIM:615436 a owl:Class ; @@ -454087,19 +470788,19 @@ OMIM:615436 a owl:Class ; PMID:17666408, PMID:21055718, PMID:23910461 ; - oboInOwl:hasDbXref UMLS:C3809513 ; oboInOwl:hasExactSynonym "AAT8", "aortic aneurysm, familial thoracic 8" ; rdfs:subClassOf OMIMPS:607086 ; + skos:exactMatch UMLS:C3809513 ; biolink:category biolink:Disease . OMIM:615438 a owl:Class ; rdfs:label "infantile liver failure syndrome 1" ; IAO:0000142 PMID:22607940 ; - oboInOwl:hasDbXref UMLS:C3809522 ; oboInOwl:hasExactSynonym "ILFS1", "infantile liver failure syndrome 1" ; rdfs:subClassOf OMIMPS:615438 ; + skos:exactMatch UMLS:C3809522 ; biolink:category biolink:Disease . OMIM:615439 a owl:Class ; @@ -454111,52 +470812,52 @@ OMIM:615439 a owl:Class ; PMID:24036952, PMID:25788521, PMID:25986072 ; - oboInOwl:hasDbXref UMLS:C3809523 ; oboInOwl:hasExactSynonym "ARMD13", "macular degeneration, age-related, 13" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C3809523 ; biolink:category biolink:Disease . OMIM:615441 a owl:Class ; rdfs:label "cardiac arrhythmia syndrome, with or without skeletal muscle weakness" ; IAO:0000142 PMID:22422768 ; - oboInOwl:hasDbXref UMLS:C3809536 ; oboInOwl:hasExactSynonym "CARDAR", "cardiac arrhythmia syndrome, with or without skeletal muscle weakness", "triaden knockout syndrome", "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" ; rdfs:subClassOf OMIMPS:604772 ; + skos:exactMatch UMLS:C3809536 ; biolink:category biolink:Disease . OMIM:615444 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 22" ; IAO:0000142 PMID:23891469, PMID:23891471 ; - oboInOwl:hasDbXref UMLS:C3809543 ; oboInOwl:hasExactSynonym "CILD22", "ciliary dyskinesia, primary, 22", "ciliary dyskinesia, primary, 22, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3809543 ; biolink:category biolink:Disease . OMIM:615451 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 23" ; IAO:0000142 PMID:23849778, PMID:24203976 ; - oboInOwl:hasDbXref UMLS:C3809548 ; oboInOwl:hasExactSynonym "CILD23", "ciliary dyskinesia, primary, 23", "ciliary dyskinesia, primary, 23, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3809548 ; biolink:category biolink:Disease . OMIM:615453 a owl:Class ; rdfs:label "mitochondrial complex 3 deficiency, nuclear iia 6" ; IAO:0000142 PMID:23910460 ; - oboInOwl:hasDbXref UMLS:C3809553 ; oboInOwl:hasExactSynonym "MC3DN6", "mitochondrial complex 3 deficiency, nuclear iia 6" ; rdfs:subClassOf OMIMPS:124000 ; + skos:exactMatch UMLS:C3809553 ; biolink:category biolink:Disease . OMIM:615457 a owl:Class ; @@ -454164,19 +470865,19 @@ OMIM:615457 a owl:Class ; IAO:0000142 PMID:17122358, PMID:19390624, PMID:23869016 ; - oboInOwl:hasDbXref UMLS:C3714940 ; oboInOwl:hasExactSynonym "BMIQ18", "body mass index quantitative trait locus 18", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C3714940 ; biolink:category biolink:Disease . OMIM:615458 a owl:Class ; rdfs:label "microcornea, myopic chorioretinal atrophy, and telecanthus" ; IAO:0000142 PMID:22686506, PMID:23818446 ; - oboInOwl:hasDbXref UMLS:C3809567 ; oboInOwl:hasExactSynonym "MMCAT", "microcornea, myopic chorioretinal atrophy, and telecanthus" ; + skos:exactMatch UMLS:C3809567 ; biolink:category biolink:Disease . OMIM:615465 a owl:Class ; @@ -454186,31 +470887,31 @@ OMIM:615465 a owl:Class ; PMID:19449411, PMID:19504604, PMID:23812909 ; - oboInOwl:hasDbXref UMLS:C1845146 ; oboInOwl:hasExactSynonym "HRTFDS", "hartsfield syndrome", "holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate" ; + skos:exactMatch UMLS:C1845146 ; biolink:category biolink:Disease . OMIM:615468 a owl:Class ; rdfs:label "immunodeficiency 12" ; IAO:0000142 PMID:23727036, PMID:24332264 ; - oboInOwl:hasDbXref UMLS:C3809583, - ORPHA:397964 ; oboInOwl:hasExactSynonym "IMD12", "immunodeficiency 12" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3809583, + ORPHA:397964 ; biolink:category biolink:Disease . OMIM:615471 a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" ; IAO:0000142 PMID:23993193, PMID:23993194 ; - oboInOwl:hasDbXref UMLS:C3809592 ; oboInOwl:hasExactSynonym "MTDPS13", "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C3809592 ; biolink:category biolink:Disease . OMIM:615476 a owl:Class ; @@ -454222,23 +470923,23 @@ OMIM:615476 a owl:Class ; PMID:30560016, PMID:31146092, PMID:32402703 ; - oboInOwl:hasDbXref UMLS:C3809624, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE18", "developmental and epileptic encephalopathy 18", "epileptic encephalopathy, early infantile, 18" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C3809624, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:615481 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 24" ; IAO:0000142 PMID:23993197, PMID:24518672 ; - oboInOwl:hasDbXref UMLS:C3809634 ; oboInOwl:hasExactSynonym "CILD24", "ciliary dyskinesia, primary, 24", "ciliary dyskinesia, primary, 24, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3809634 ; biolink:category biolink:Disease . OMIM:615485 a owl:Class ; @@ -454246,20 +470947,20 @@ OMIM:615485 a owl:Class ; IAO:0000142 PMID:23383720, PMID:26647312, PMID:28100473 ; - oboInOwl:hasDbXref UMLS:C3809650 ; oboInOwl:hasExactSynonym "BRPS", "bainbridge-ropers syndrome" ; + skos:exactMatch UMLS:C3809650 ; biolink:category biolink:Disease . OMIM:615486 a owl:Class ; rdfs:label "interstitial lung and liver disease" ; IAO:0000142 PMID:24103465, PMID:25913036 ; - oboInOwl:hasDbXref UMLS:C4225400 ; oboInOwl:hasExactSynonym "ILLD", "infantile liver failure syndrome 2, formerly", "interstitial lung and liver disease", "pulmonary alveolar proteinosis, reunion island" ; + skos:exactMatch UMLS:C4225400 ; biolink:category biolink:Disease . OMIM:615490 a owl:Class ; @@ -454267,35 +470968,35 @@ OMIM:615490 a owl:Class ; IAO:0000142 PMID:18687884, PMID:23562820, PMID:25893792 ; - oboInOwl:hasDbXref UMLS:C3809655 ; oboInOwl:hasExactSynonym "CMT2R", "charcot-marie-tooth disease, axonal, iia 2r", "charcot-marie-tooth disease, axonal, autosomal recessive, iia 2r", "charcot-marie-tooth neuropathy, iia 2r" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3809655 ; biolink:category biolink:Disease . OMIM:615493 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 37" ; IAO:0000142 PMID:23390136, PMID:29302074 ; - oboInOwl:hasDbXref UMLS:C3809672, - ORPHA:356996 ; oboInOwl:hasExactSynonym "MRT37", "intellectual developmental disorder, autosomal recessive 37", "mental retardation, autosomal recessive 37" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3809672, + ORPHA:356996 ; biolink:category biolink:Disease . OMIM:615500 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 26" ; IAO:0000142 PMID:24094744 ; - oboInOwl:hasDbXref UMLS:C3809684, - ORPHA:244 ; oboInOwl:hasExactSynonym "CILD26", "ciliary dyskinesia, primary, 26", "ciliary dyskinesia, primary, 26, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3809684, + ORPHA:244 ; biolink:category biolink:Disease . OMIM:615501 a owl:Class ; @@ -454303,20 +471004,20 @@ OMIM:615501 a owl:Class ; IAO:0000142 PMID:11095995, PMID:12754701, PMID:22040219 ; - oboInOwl:hasDbXref UMLS:C1854990 ; oboInOwl:hasExactSynonym "MOCODC", "molybdenum cofactor deficiency, complementation group c" ; rdfs:subClassOf OMIMPS:252150 ; + skos:exactMatch UMLS:C1854990 ; biolink:category biolink:Disease . OMIM:615502 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 21" ; IAO:0000142 PMID:23746550 ; - oboInOwl:hasDbXref UMLS:C3809686 ; oboInOwl:hasExactSynonym "MRD21", "intellectual developmental disorder, autosomal dominant 21", "mental retardation, autosomal dominant 21" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C3809686 ; biolink:category biolink:Disease . OMIM:615503 a owl:Class ; @@ -454324,49 +471025,49 @@ OMIM:615503 a owl:Class ; IAO:0000142 PMID:22791528, PMID:23910462, PMID:24183451 ; - oboInOwl:hasDbXref UMLS:C3809691 ; oboInOwl:hasExactSynonym "SRTD8", "short rib-polydactyly syndrome, iia 6", "short-rib thoracic dysplasia 8 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C3809691 ; biolink:category biolink:Disease . OMIM:615504 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 27" ; IAO:0000142 PMID:23991085, PMID:24094744 ; - oboInOwl:hasDbXref UMLS:C3809701 ; oboInOwl:hasExactSynonym "CILD27", "ciliary dyskinesia, primary, 27", "ciliary dyskinesia, primary, 27, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3809701 ; biolink:category biolink:Disease . OMIM:615505 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 28" ; IAO:0000142 PMID:24055112 ; - oboInOwl:hasDbXref UMLS:C3809706 ; oboInOwl:hasExactSynonym "CILD28", "ciliary dyskinesia, primary, 28", "ciliary dyskinesia, primary, 28, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C3809706 ; biolink:category biolink:Disease . OMIM:615506 a owl:Class ; rdfs:label "telangiectasia, hereditary hemorrhagic, iia 5" ; IAO:0000142 PMID:23972370 ; - oboInOwl:hasDbXref UMLS:C3809710 ; oboInOwl:hasExactSynonym "HHT5", "telangiectasia, hereditary hemorrhagic, iia 5" ; rdfs:subClassOf OMIMPS:187300 ; + skos:exactMatch UMLS:C3809710 ; biolink:category biolink:Disease . OMIM:615510 a owl:Class ; rdfs:label "alacrima, achalasia, and mental retardation syndrome" ; IAO:0000142 PMID:24035193 ; - oboInOwl:hasDbXref UMLS:C3809738 ; oboInOwl:hasExactSynonym "AAMR", "alacrima, achalasia, and mental retardation syndrome" ; + skos:exactMatch UMLS:C3809738 ; biolink:category biolink:Disease . OMIM:615511 a owl:Class ; @@ -454391,12 +471092,12 @@ OMIM:615511 a owl:Class ; PMID:7365597, PMID:7440723, PMID:9667605 ; - oboInOwl:hasDbXref UMLS:C3714933 ; oboInOwl:hasExactSynonym "MMDD", "adenosine monophosphate deaminase-1 deficiency, myopathy due to", "ampd1 deficiency", "myoadenylate deaminase deficiency, myopathy due to", "myopathy due to myoadenylate deaminase deficiency" ; + skos:exactMatch UMLS:C3714933 ; biolink:category biolink:Disease . OMIM:615512 a owl:Class ; @@ -454425,47 +471126,47 @@ OMIM:615512 a owl:Class ; PMID:8503454, PMID:8571957, PMID:9338582 ; - oboInOwl:hasDbXref UMLS:C1860808 ; oboInOwl:hasExactSynonym "TPID", "triosephosphate isomerase deficiency" ; + skos:exactMatch UMLS:C1860808 ; biolink:category biolink:Disease . OMIM:615515 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 19" ; IAO:0000142 PMID:24119685 ; - oboInOwl:hasDbXref UMLS:C3715155 ; oboInOwl:hasExactSynonym "ALS19", "amyotrophic lateral sclerosis 19" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C3715155 ; biolink:category biolink:Disease . OMIM:615517 a owl:Class ; rdfs:label "hemochromatosis, iia 5" ; IAO:0000142 PMID:11389486 ; - oboInOwl:hasDbXref UMLS:C1851316 ; oboInOwl:hasExactSynonym "HFE5", "hemochromatosis, iia 5", "iron overload, autosomal dominant" ; rdfs:subClassOf OMIMPS:235200 ; + skos:exactMatch UMLS:C1851316 ; biolink:category biolink:Disease . OMIM:615518 a owl:Class ; rdfs:label "immunodeficiency 13" ; IAO:0000142 PMID:22184408 ; - oboInOwl:hasDbXref UMLS:C3809768 ; oboInOwl:hasExactSynonym "IMD13", "idiopathic cd4 lymphopenia", "immunodeficiency 13" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3809768 ; biolink:category biolink:Disease . OMIM:615523 a owl:Class ; rdfs:label "corneal dystrophy, fuchs endothelial, 8" ; IAO:0000142 PMID:24094747 ; - oboInOwl:hasDbXref UMLS:C3809798 ; oboInOwl:hasExactSynonym "FECD8", "corneal dystrophy, fuchs endothelial, 8" ; rdfs:subClassOf OMIMPS:136800 ; + skos:exactMatch UMLS:C3809798 ; biolink:category biolink:Disease . OMIM:615524 a owl:Class ; @@ -454473,11 +471174,11 @@ OMIM:615524 a owl:Class ; IAO:0000142 PMID:17506106, PMID:22686418, PMID:24075189 ; - oboInOwl:hasDbXref UMLS:C3809803 ; oboInOwl:hasExactSynonym "MCOPS12", "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects", "microphthalmia, syndromic 12" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C3809803 ; biolink:category biolink:Disease . OMIM:615528 a owl:Class ; @@ -454486,23 +471187,23 @@ OMIM:615528 a owl:Class ; PMID:23211418, PMID:26528954, PMID:26703368 ; - oboInOwl:hasDbXref UMLS:C3809811, - UMLS:C4310802 ; oboInOwl:hasExactSynonym "PARK19A", "park19, formerly", "parkinson disease 19a, juvenile-onset", "parkinson disease 19b, early-onset" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C3809811, + UMLS:C4310802 ; biolink:category biolink:Disease . OMIM:615529 a owl:Class ; rdfs:label "craniosynostosis 5, susceptibility to" ; IAO:0000142 PMID:17651129, PMID:22829454 ; - oboInOwl:hasDbXref UMLS:C3809819 ; oboInOwl:hasExactSynonym "CRS5", "craniosynostosis 5, susceptibility to" ; rdfs:subClassOf OMIMPS:123100 ; + skos:exactMatch UMLS:C3809819 ; biolink:category biolink:Disease . OMIM:615530 a owl:Class ; @@ -454510,10 +471211,10 @@ OMIM:615530 a owl:Class ; IAO:0000142 PMID:23804563, PMID:23804577, PMID:27496670 ; - oboInOwl:hasDbXref UMLS:C3809824 ; oboInOwl:hasExactSynonym "PARK20", "parkinson disease 20, early-onset" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C3809824 ; biolink:category biolink:Disease . OMIM:615538 a owl:Class ; @@ -454521,57 +471222,57 @@ OMIM:615538 a owl:Class ; IAO:0000142 PMID:24153177 ; RO:0002525 CHR:9606chr22q13 ; RO:0003303 OMIM:615538 ; - oboInOwl:hasDbXref UMLS:C3809844 ; oboInOwl:hasExactSynonym "chromosome 22q13 duplication syndrome" ; + skos:exactMatch UMLS:C3809844 ; biolink:category biolink:Disease . OMIM:615539 a owl:Class ; rdfs:label "ehlers-danlos syndrome, musculocontractural type, 2" ; IAO:0000142 PMID:23704329, PMID:25703627 ; - oboInOwl:hasDbXref UMLS:C3809845 ; oboInOwl:hasExactSynonym "EDSMC2", "ehlers-danlos syndrome, musculocontractural type, 2" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C3809845 ; biolink:category biolink:Disease . OMIM:615540 a owl:Class ; rdfs:label "deafness, autosomal recessive 76" ; IAO:0000142 PMID:23348741 ; - oboInOwl:hasDbXref UMLS:C3147083 ; oboInOwl:hasExactSynonym "DFNB76", "deafness, autosomal recessive 76" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3147083 ; biolink:category biolink:Disease . OMIM:615541 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 39" ; IAO:0000142 PMID:21937992, PMID:23956177 ; - oboInOwl:hasDbXref UMLS:C3809853, - ORPHA:391307 ; oboInOwl:hasExactSynonym "MRT39", "intellectual developmental disorder, autosomal recessive 39", "mental retardation, autosomal recessive 39" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3809853, + ORPHA:391307 ; biolink:category biolink:Disease . OMIM:615544 a owl:Class ; rdfs:label "periventricular nodular heterotopia 6" ; IAO:0000142 PMID:24056535 ; - oboInOwl:hasDbXref UMLS:C3809872 ; oboInOwl:hasExactSynonym "PVNH6", "periventricular nodular heterotopia 6" ; rdfs:subClassOf OMIMPS:300049 ; + skos:exactMatch UMLS:C3809872 ; biolink:category biolink:Disease . OMIM:615545 a owl:Class ; rdfs:label "leukemia, acute lymphoblastic, susceptibility to, 3" ; IAO:0000142 PMID:24013638, PMID:30643249 ; - oboInOwl:hasDbXref UMLS:C3809874 ; oboInOwl:hasExactSynonym "ALL3", "leukemia, acute lymphoblastic, susceptibility to, 3" ; + skos:exactMatch UMLS:C3809874 ; biolink:category biolink:Disease . OMIM:615546 a owl:Class ; @@ -454579,10 +471280,10 @@ OMIM:615546 a owl:Class ; IAO:0000142 PMID:22469822, PMID:22473091, PMID:24056717 ; - oboInOwl:hasDbXref UMLS:C3809875 ; oboInOwl:hasExactSynonym "VMLDS2", "van maldergem syndrome 2" ; rdfs:subClassOf OMIMPS:601390 ; + skos:exactMatch UMLS:C3809875 ; biolink:category biolink:Disease . OMIM:615548 a owl:Class ; @@ -454590,48 +471291,48 @@ OMIM:615548 a owl:Class ; IAO:0000142 PMID:24036948, PMID:25118027, PMID:30395542 ; - oboInOwl:hasDbXref UMLS:C3809882 ; oboInOwl:hasExactSynonym "HSAN7", "hsan 7", "insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis", "neuropathy, hereditary sensory and autonomic, iia 7" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C3809882 ; biolink:category biolink:Disease . OMIM:615550 a owl:Class ; rdfs:label "diamond-blackfan anemia 12" ; IAO:0000142 PMID:23812780 ; - oboInOwl:hasDbXref UMLS:C3809888, - ORPHA:124 ; oboInOwl:hasExactSynonym "DBA12", "diamond-blackfan anemia 12" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C3809888, + ORPHA:124 ; biolink:category biolink:Disease . OMIM:615551 a owl:Class ; rdfs:label "episodic pain syndrome, familial, 2" ; IAO:0000142 PMID:23115331 ; - oboInOwl:hasDbXref UMLS:C3809893 ; oboInOwl:hasExactSynonym "FEPS2", "episodic pain syndrome, familial, 2" ; rdfs:subClassOf OMIMPS:615040 ; + skos:exactMatch UMLS:C3809893 ; biolink:category biolink:Disease . OMIM:615553 a owl:Class ; rdfs:label "arthrogryposis, mental retardation, and seizures" ; IAO:0000142 PMID:24031089 ; - oboInOwl:hasDbXref UMLS:C3809910 ; oboInOwl:hasExactSynonym "AMRS", "arthrogryposis, mental retardation, and seizures" ; + skos:exactMatch UMLS:C3809910 ; biolink:category biolink:Disease . OMIM:615554 a owl:Class ; rdfs:label "multiple fibroadenomas of the breast" ; IAO:0000142 PMID:18779591, PMID:24195502 ; - oboInOwl:hasDbXref UMLS:C3809918 ; oboInOwl:hasExactSynonym "MFAB", "multiple fibroadenomas of the breast" ; + skos:exactMatch UMLS:C3809918 ; biolink:category biolink:Disease . OMIM:615558 a owl:Class ; @@ -454663,15 +471364,15 @@ OMIM:615558 a owl:Class ; PMID:7229035, PMID:8496659, PMID:9508071 ; - oboInOwl:hasDbXref UMLS:C1862596, - UMLS:C4551990, - UMLS:C4760580 ; oboInOwl:hasExactSynonym "FHBL1", "acanthocytosis with hypobetalipoproteinemia", "hypobetalipoproteinemia, familial", "hypobetalipoproteinemia, familial, 1", "hypobetalipoproteinemia, normotriglyceridemic", "low density lipoprotein cholesterol level quantitative trait locus 4" ; + skos:exactMatch UMLS:C1862596, + UMLS:C4551990, + UMLS:C4760580 ; biolink:category biolink:Disease . OMIM:615559 a owl:Class ; @@ -454682,10 +471383,10 @@ OMIM:615559 a owl:Class ; PMID:23430113, PMID:23666743, PMID:24240292 ; - oboInOwl:hasDbXref UMLS:C3809928 ; oboInOwl:hasExactSynonym "ALPS3", "autoimmune lymphoproliferative syndrome, iia 3", "immunodeficiency, common variable, 9, formerly" ; + skos:exactMatch UMLS:C3809928 ; biolink:category biolink:Disease . OMIM:615560 a owl:Class ; @@ -454694,31 +471395,31 @@ OMIM:615560 a owl:Class ; PMID:28657137, PMID:29681087, PMID:32111619 ; - oboInOwl:hasDbXref UMLS:C3714942, - ORPHA:2792 ; oboInOwl:hasExactSynonym "OTFCS2", "ofc2", "otofaciocervical syndrome 2, with t-cell deficiency" ; rdfs:subClassOf OMIMPS:166780 ; + skos:exactMatch UMLS:C3714942, + ORPHA:2792 ; biolink:category biolink:Disease . OMIM:615565 a owl:Class ; rdfs:label "retinitis pigmentosa 67" ; IAO:0000142 PMID:10932196, PMID:24043777 ; - oboInOwl:hasDbXref UMLS:C3809954 ; oboInOwl:hasExactSynonym "RP67", "retinitis pigmentosa 67" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3809954 ; biolink:category biolink:Disease . OMIM:615573 a owl:Class ; rdfs:label "nephrotic syndrome, iia 9" ; IAO:0000142 PMID:24270420 ; - oboInOwl:hasDbXref UMLS:C3809965 ; oboInOwl:hasExactSynonym "NPHS9", "nephrotic syndrome, iia 9" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C3809965 ; biolink:category biolink:Disease . OMIM:615574 a owl:Class ; @@ -454728,23 +471429,23 @@ OMIM:615574 a owl:Class ; PMID:28776279, PMID:29279279, PMID:29375865 ; - oboInOwl:hasDbXref UMLS:C3809971, - ORPHA:391376 ; oboInOwl:hasExactSynonym "ASNSD", "asns deficiency", "asparagine synthetase deficiency" ; + skos:exactMatch UMLS:C3809971, + ORPHA:391376 ; biolink:category biolink:Disease . OMIM:615575 a owl:Class ; rdfs:label "neuronopathy, distal hereditary motor, iia 2d" ; IAO:0000142 PMID:24207122, PMID:7723957 ; - oboInOwl:hasDbXref UMLS:C3888271 ; oboInOwl:hasExactSynonym "HMN2D", "hmn 2d", "neuronopathy, distal hereditary motor, iia 2d", "neuropathy, distal hereditary motor, iia 2d", "spinal muscular atrophy, distal, autosomal dominant, calf-predominant" ; + skos:exactMatch UMLS:C3888271 ; biolink:category biolink:Disease . OMIM:615577 a owl:Class ; @@ -454756,23 +471457,23 @@ OMIM:615577 a owl:Class ; PMID:25237204, PMID:25524009, PMID:31417880 ; - oboInOwl:hasDbXref UMLS:C3809991, - ORPHA:1572, - ORPHA:293978 ; oboInOwl:hasExactSynonym "CVID10", "deficit 1n anterior pituitary function and variable immunodeficiency", "immunodeficiency, common variable, 10", "immunodeficiency, common variable, with central adrenal insufficiency" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C3809991, + ORPHA:1572, + ORPHA:293978 ; biolink:category biolink:Disease . OMIM:615578 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 18" ; IAO:0000142 PMID:24119684 ; - oboInOwl:hasDbXref UMLS:C3810001 ; oboInOwl:hasExactSynonym "COXPD18", "combined oxidative phosphorylation deficiency 18" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3810001 ; biolink:category biolink:Disease . OMIM:615582 a owl:Class ; @@ -454781,11 +471482,11 @@ OMIM:615582 a owl:Class ; PMID:23824657, PMID:24798638, PMID:25835445 ; - oboInOwl:hasDbXref UMLS:C3810012 ; oboInOwl:hasExactSynonym "LDS5", "loeys-dietz syndrome 5", "rienhoff syndrome" ; rdfs:subClassOf OMIMPS:609192 ; + skos:exactMatch UMLS:C3810012 ; biolink:category biolink:Disease . OMIM:615583 a owl:Class ; @@ -454795,20 +471496,20 @@ OMIM:615583 a owl:Class ; PMID:28074499, PMID:28327570, PMID:28471317 ; - oboInOwl:hasDbXref UMLS:C3810023 ; oboInOwl:hasExactSynonym "VRJS", "chromosome 8q24.3 deletion syndrome", "verheij syndrome" ; + skos:exactMatch UMLS:C3810023 ; biolink:category biolink:Disease . OMIM:615589 a owl:Class ; rdfs:label "otosclerosis 10" ; IAO:0000142 PMID:21470211 ; RO:0002525 CHR:9606chr1q41-q44 ; - oboInOwl:hasDbXref UMLS:C3888339 ; oboInOwl:hasExactSynonym "OTSC10", "otosclerosis 10" ; rdfs:subClassOf OMIMPS:166800 ; + skos:exactMatch UMLS:C3888339 ; biolink:category biolink:Disease . OMIM:615590 a owl:Class ; @@ -454816,19 +471517,19 @@ OMIM:615590 a owl:Class ; IAO:0000142 PMID:19608551, PMID:20381196, PMID:24055016 ; - oboInOwl:hasDbXref UMLS:C3810041 ; oboInOwl:hasExactSynonym "AD18", "alzheimer disease 18", "alzheimer disease 18, late-onset" ; + skos:exactMatch UMLS:C3810041 ; biolink:category biolink:Disease . OMIM:615591 a owl:Class ; rdfs:label "macular degeneration, age-related, 15" ; IAO:0000142 PMID:24036952 ; - oboInOwl:hasDbXref UMLS:C3810042 ; oboInOwl:hasExactSynonym "ARMD15", "macular degeneration, age-related, 15" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C3810042 ; biolink:category biolink:Disease . OMIM:615592 a owl:Class ; @@ -454836,52 +471537,52 @@ OMIM:615592 a owl:Class ; IAO:0000142 PMID:10195897, PMID:24369075, PMID:25216719 ; - oboInOwl:hasDbXref UMLS:C4747743, - ORPHA:397787 ; oboInOwl:hasExactSynonym "IMD15B", "immunodeficiency 15b" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4747743, + ORPHA:397787 ; biolink:category biolink:Disease . OMIM:615593 a owl:Class ; rdfs:label "immunodeficiency 16" ; IAO:0000142 PMID:20156905, PMID:23897980 ; - oboInOwl:hasDbXref UMLS:C3810053 ; oboInOwl:hasExactSynonym "IMD16", "immunodeficiency 16", "ox40 deficiency" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3810053 ; biolink:category biolink:Disease . OMIM:615595 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 19" ; IAO:0000142 PMID:23814038 ; - oboInOwl:hasDbXref UMLS:C3810055 ; oboInOwl:hasExactSynonym "COXPD19", "combined oxidative phosphorylation deficiency 19" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C3810055 ; biolink:category biolink:Disease . OMIM:615596 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iw, autosomal recessive" ; IAO:0000142 PMID:23842455, PMID:28424003 ; - oboInOwl:hasDbXref UMLS:C3810062, - ORPHA:370921 ; oboInOwl:hasExactSynonym "CDG1WAR", "congenital disorder of glycosylation, iia iw, autosomal recessive" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C3810062, + ORPHA:370921 ; biolink:category biolink:Disease . OMIM:615597 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia ix" ; IAO:0000142 PMID:23842455 ; - oboInOwl:hasDbXref UMLS:C2931007 ; oboInOwl:hasExactSynonym "CDG1X", "cdg ix", "congenital disorder of glycosylation, iia ix" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C2931007 ; biolink:category biolink:Disease . OMIM:615598 a owl:Class ; @@ -454892,9 +471593,9 @@ OMIM:615598 a owl:Class ; PMID:24207119, PMID:24514002, PMID:24773080 ; - oboInOwl:hasDbXref UMLS:C3810072 ; oboInOwl:hasExactSynonym "PPKN", "palmoplantar keratoderma, nagashima iia" ; + skos:exactMatch UMLS:C3810072 ; biolink:category biolink:Disease . OMIM:615599 a owl:Class ; @@ -454902,13 +471603,13 @@ OMIM:615599 a owl:Class ; IAO:0000142 PMID:21937992, PMID:22633631, PMID:24084144 ; - oboInOwl:hasDbXref UMLS:C3810080, - ORPHA:397951 ; oboInOwl:hasExactSynonym "NEDFCF", "intellectual developmental disorder, autosomal recessive 40", "mental retardation, autosomal recessive 40", "neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3810080, + ORPHA:397951 ; biolink:category biolink:Disease . OMIM:615602 a owl:Class ; @@ -454919,20 +471620,20 @@ OMIM:615602 a owl:Class ; PMID:23778582, PMID:23926262, PMID:9171059 ; - oboInOwl:hasDbXref UMLS:C3810089 ; oboInOwl:hasExactSynonym "MEMRYQTL", "memory quantitative trait locus" ; + skos:exactMatch UMLS:C3810089 ; biolink:category biolink:Disease . OMIM:615605 a owl:Class ; rdfs:label "fanconi renotubular syndrome 3" ; IAO:0000142 PMID:1627757, PMID:24401050 ; - oboInOwl:hasDbXref UMLS:C3810100, - ORPHA:3337 ; oboInOwl:hasExactSynonym "FRTS3", "fanconi renotubular syndrome 3" ; rdfs:subClassOf OMIMPS:134600 ; + skos:exactMatch UMLS:C3810100, + ORPHA:3337 ; biolink:category biolink:Disease . OMIM:615607 a owl:Class ; @@ -454944,12 +471645,12 @@ OMIM:615607 a owl:Class ; PMID:2872416, PMID:3262828, PMID:8325321 ; - oboInOwl:hasDbXref UMLS:C3810107 ; oboInOwl:hasExactSynonym "IMD17", "cd3-gamma deficiency", "immunodeficiency 17", "scid-like immunodeficiency, t cell-partial, B cell-positive, nk cell-positive" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3810107 ; biolink:category biolink:Disease . OMIM:615612 a owl:Class ; @@ -454957,10 +471658,10 @@ OMIM:615612 a owl:Class ; IAO:0000142 PMID:22177793, PMID:23716478 ; RO:0002525 CHR:9606chr3p22.2 ; - oboInOwl:hasDbXref UMLS:C3715079 ; oboInOwl:hasExactSynonym "DDH2", "developmental dysplasia of the hip 2" ; rdfs:subClassOf OMIMPS:142700 ; + skos:exactMatch UMLS:C3715079 ; biolink:category biolink:Disease . OMIM:615615 a owl:Class ; @@ -454969,27 +471670,27 @@ OMIM:615615 a owl:Class ; PMID:15546002, PMID:1676369, PMID:8490660 ; - oboInOwl:hasDbXref UMLS:C3810127, - UMLS:C3810128, - UMLS:C3810129 ; oboInOwl:hasExactSynonym "IMD18", "cd3-epsilon deficiency", "immunodeficiency 18", "immunodeficiency 18, scid variant", "immunodeficiency 18, severe combined immunodeficiency variant" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3810127, + UMLS:C3810128, + UMLS:C3810129 ; biolink:category biolink:Disease . OMIM:615616 a owl:Class ; rdfs:label "arrhythmogenic right ventricular dysplasia, familial, 13" ; IAO:0000142 PMID:23136403 ; - oboInOwl:hasDbXref UMLS:C3810138, - ORPHA:217656, - ORPHA:293910 ; oboInOwl:hasExactSynonym "ARVD13", "arrhythmogenic right ventricular cardiomyopathy 13", "arrhythmogenic right ventricular dysplasia, familial, 13" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C3810138, + ORPHA:217656, + ORPHA:293910 ; biolink:category biolink:Disease . OMIM:615617 a owl:Class ; @@ -454998,33 +471699,33 @@ OMIM:615617 a owl:Class ; PMID:15546002, PMID:21883749, PMID:21926461 ; - oboInOwl:hasDbXref UMLS:C3810147 ; oboInOwl:hasExactSynonym "IMD19", "cd3-delta deficiency", "immunodeficiency 19", "scid, t cell-negative, B cell-positive, nk cell-positive", "severe combined immunodeficiency, t cell-negative, B cell-positive, nk cell-positive" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3810147 ; biolink:category biolink:Disease . OMIM:615625 a owl:Class ; rdfs:label "spastic paraplegia 72, autosomal recessive" ; IAO:0000142 PMID:24388663 ; - oboInOwl:hasDbXref UMLS:C3810160, - UMLS:C3810161 ; oboInOwl:hasExactSynonym "SPG72", "spastic paraplegia 72, autosomal dominant", "spastic paraplegia 72, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3810160, + UMLS:C3810161 ; biolink:category biolink:Disease . OMIM:615629 a owl:Class ; rdfs:label "deafness, autosomal dominant 56" ; IAO:0000142 PMID:23936043 ; - oboInOwl:hasDbXref UMLS:C3810170 ; oboInOwl:hasExactSynonym "DFNA56", "deafness, autosomal dominant 56" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C3810170 ; biolink:category biolink:Disease . OMIM:615630 a owl:Class ; @@ -455033,10 +471734,10 @@ OMIM:615630 a owl:Class ; PMID:22791528, PMID:24140113, PMID:24183451 ; - oboInOwl:hasDbXref UMLS:C3810175 ; oboInOwl:hasExactSynonym "SRTD10", "short-rib thoracic dysplasia 10 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C3810175 ; biolink:category biolink:Disease . OMIM:615631 a owl:Class ; @@ -455045,11 +471746,11 @@ OMIM:615631 a owl:Class ; PMID:16754775, PMID:23716552, PMID:9220189 ; - oboInOwl:hasDbXref UMLS:C3810185 ; oboInOwl:hasExactSynonym "CDAN1B", "anemia, congenital dyserythropoietic, iia ib", "cda, iia ib" ; rdfs:subClassOf OMIMPS:224120 ; + skos:exactMatch UMLS:C3810185 ; biolink:category biolink:Disease . OMIM:615632 a owl:Class ; @@ -455057,12 +471758,12 @@ OMIM:615632 a owl:Class ; IAO:0000142 PMID:24459106, PMID:24736309, PMID:30680846 ; - oboInOwl:hasDbXref UMLS:C3810194, - ORPHA:36386 ; oboInOwl:hasExactSynonym "HSN1F", "hsn 1f", "neuropathy, hereditary sensory, iia 1f" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C3810194, + ORPHA:36386 ; biolink:category biolink:Disease . OMIM:615633 a owl:Class ; @@ -455071,10 +471772,10 @@ OMIM:615633 a owl:Class ; PMID:22791528, PMID:24183449, PMID:24183451 ; - oboInOwl:hasDbXref UMLS:C3810200 ; oboInOwl:hasExactSynonym "SRTD11", "short-rib thoracic dysplasia 11 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C3810200 ; biolink:category biolink:Disease . OMIM:615636 a owl:Class ; @@ -455082,41 +471783,41 @@ OMIM:615636 a owl:Class ; IAO:0000142 PMID:24360803, PMID:24360807, PMID:24360808 ; - oboInOwl:hasDbXref UMLS:C3810212 ; oboInOwl:hasExactSynonym "JBTS21", "joubert syndrome 21" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C3810212 ; biolink:category biolink:Disease . OMIM:615637 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 41" ; IAO:0000142 PMID:24239382, PMID:25847626 ; - oboInOwl:hasDbXref UMLS:C3810225 ; oboInOwl:hasExactSynonym "MRT41", "intellectual developmental disorder, autosomal recessive 41", "mental retardation, autosomal recessive 41" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C3810225 ; biolink:category biolink:Disease . OMIM:615649 a owl:Class ; rdfs:label "deafness, autosomal dominant 54" ; IAO:0000142 PMID:15490091 ; RO:0002525 CHR:9606chr5q31 ; - oboInOwl:hasDbXref UMLS:C3888029 ; oboInOwl:hasExactSynonym "DFNA54", "deafness, autosomal dominant 54" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C3888029 ; biolink:category biolink:Disease . OMIM:615654 a owl:Class ; rdfs:label "deafness, autosomal dominant 58" ; IAO:0000142 PMID:19159392 ; RO:0002525 CHR:9606chr2p21-p12 ; - oboInOwl:hasDbXref UMLS:C3888210 ; oboInOwl:hasExactSynonym "DFNA58", "deafness, autosomal dominant 58" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C3888210 ; biolink:category biolink:Disease . OMIM:615663 a owl:Class ; @@ -455125,31 +471826,31 @@ OMIM:615663 a owl:Class ; PMID:23420520, PMID:24239381, PMID:32740904 ; - oboInOwl:hasDbXref UMLS:C3810265, - ORPHA:2510 ; oboInOwl:hasExactSynonym "WARBM4", "warburg micro syndrome 4" ; rdfs:subClassOf OMIMPS:600118 ; + skos:exactMatch UMLS:C3810265, + ORPHA:2510 ; biolink:category biolink:Disease . OMIM:615665 a owl:Class ; rdfs:label "joubert syndrome 22" ; IAO:0000142 PMID:24166846, PMID:30423442 ; - oboInOwl:hasDbXref UMLS:C3810278, - ORPHA:2754 ; oboInOwl:hasExactSynonym "JBTS22", "joubert syndrome 22" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C3810278, + ORPHA:2754 ; biolink:category biolink:Disease . OMIM:615670 a owl:Class ; rdfs:label "schwannomatosis 2" ; IAO:0000142 PMID:24362817 ; - oboInOwl:hasDbXref UMLS:C3810283 ; oboInOwl:hasExactSynonym "SWNTS2", "schwannomatosis 2" ; rdfs:subClassOf OMIMPS:162091 ; + skos:exactMatch UMLS:C3810283 ; biolink:category biolink:Disease . OMIM:615673 a owl:Class ; @@ -455159,47 +471860,47 @@ OMIM:615673 a owl:Class ; PMID:31665639, PMID:32395406, PMID:33428302 ; - oboInOwl:hasDbXref UMLS:C3810285, - ORPHA:401768 ; oboInOwl:hasExactSynonym "MPXPS", "myopathy with extrapyramidal signs" ; + skos:exactMatch UMLS:C3810285, + ORPHA:401768 ; biolink:category biolink:Disease . OMIM:615674 a owl:Class ; rdfs:label "dowling-degos disease 3" ; IAO:0000142 PMID:16575392 ; RO:0002525 CHR:9606chr17p13.3 ; - oboInOwl:hasDbXref UMLS:C3810286 ; oboInOwl:hasExactSynonym "DDD3", "dowling-degos disease 3" ; rdfs:subClassOf OMIMPS:179850 ; + skos:exactMatch UMLS:C3810286 ; biolink:category biolink:Disease . OMIM:615681 a owl:Class ; rdfs:label "spastic paraplegia 62, autosomal recessive" ; IAO:0000142 PMID:24482476 ; - oboInOwl:hasDbXref UMLS:C4284588 ; oboInOwl:hasExactSynonym "SPG62", "spastic paraplegia 62, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C4284588 ; biolink:category biolink:Disease . OMIM:615683 a owl:Class ; rdfs:label "spastic paraplegia 64, autosomal recessive" ; IAO:0000142 PMID:24482476 ; - oboInOwl:hasDbXref UMLS:C3810289 ; oboInOwl:hasExactSynonym "SPG64", "spastic paraplegia 64, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3810289 ; biolink:category biolink:Disease . OMIM:615685 a owl:Class ; rdfs:label "spastic paraplegia 61, autosomal recessive" ; IAO:0000142 PMID:24482476 ; - oboInOwl:hasDbXref UMLS:C3810294 ; oboInOwl:hasExactSynonym "SPG61", "spastic paraplegia 61, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3810294 ; biolink:category biolink:Disease . OMIM:615688 a owl:Class ; @@ -455211,12 +471912,12 @@ OMIM:615688 a owl:Class ; PMID:25075848, PMID:26867732, PMID:30406060 ; - oboInOwl:hasDbXref UMLS:C3887654, - UMLS:C4289994 ; oboInOwl:hasExactSynonym "VAIHS", "adenosine deaminase 2 deficiency", "polyarteritis nodosa, childhood-onset", "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" ; + skos:exactMatch UMLS:C3887654, + UMLS:C4289994 ; biolink:category biolink:Disease . OMIM:615696 a owl:Class ; @@ -455224,10 +471925,10 @@ OMIM:615696 a owl:Class ; IAO:0000142 PMID:20664185, PMID:21971768, PMID:24387993 ; - oboInOwl:hasDbXref UMLS:C3810313 ; oboInOwl:hasExactSynonym "DDD4", "dowling-degos disease 4" ; rdfs:subClassOf OMIMPS:179850 ; + skos:exactMatch UMLS:C3810313 ; biolink:category biolink:Disease . OMIM:615697 a owl:Class ; @@ -455235,28 +471936,28 @@ OMIM:615697 a owl:Class ; IAO:0000142 PMID:24021842 ; RO:0002525 CHR:9606chr3q25-q26 ; RO:0003303 OMIM:6 ; - oboInOwl:hasDbXref UMLS:C3810320 ; oboInOwl:hasExactSynonym "ETL6", "epilepsy, familial temporal lobe, 6" ; rdfs:subClassOf OMIMPS:600512 ; + skos:exactMatch UMLS:C3810320 ; biolink:category biolink:Disease . OMIM:615703 a owl:Class ; rdfs:label "morbid obesity and spermatogenic failure" ; IAO:0000142 PMID:24268657 ; - oboInOwl:hasDbXref UMLS:C3810324 ; oboInOwl:hasExactSynonym "MOSPGF", "morbid obesity and spermatogenic failure" ; + skos:exactMatch UMLS:C3810324 ; biolink:category biolink:Disease . OMIM:615704 a owl:Class ; rdfs:label "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" ; IAO:0000142 PMID:17034542, PMID:24268661 ; - oboInOwl:hasDbXref UMLS:C3810325 ; oboInOwl:hasExactSynonym "POIKTMP", "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis", "poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement" ; + skos:exactMatch UMLS:C3810325 ; biolink:category biolink:Disease . OMIM:615705 a owl:Class ; @@ -455265,12 +471966,12 @@ OMIM:615705 a owl:Class ; PMID:23728897, PMID:30237576, PMID:32450808 ; - oboInOwl:hasDbXref UMLS:C3810326, - ORPHA:404499 ; oboInOwl:hasExactSynonym "SCAR15", "salih ataxia", "spinocerebellar ataxia, autosomal recessive 15" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C3810326, + ORPHA:404499 ; biolink:category biolink:Disease . OMIM:615707 a owl:Class ; @@ -455278,11 +471979,11 @@ OMIM:615707 a owl:Class ; IAO:0000142 PMID:23006327, PMID:8608639, PMID:8874200 ; - oboInOwl:hasDbXref UMLS:C3810342, - ORPHA:437552 ; oboInOwl:hasExactSynonym "IMD20", "immunodeficiency 20" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C3810342, + ORPHA:437552 ; biolink:category biolink:Disease . OMIM:615710 a owl:Class ; @@ -455297,18 +471998,17 @@ OMIM:615710 a owl:Class ; PMID:20148032, PMID:26264437, PMID:9677074 ; - oboInOwl:hasDbXref UMLS:C2748662, - ORPHA:293864 ; oboInOwl:hasExactSynonym "MTCHRS", "diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia", "mitchell-riley syndrome" ; + skos:exactMatch UMLS:C2748662, + ORPHA:293864 ; biolink:category biolink:Disease . OMIM:615714 a owl:Class ; rdfs:label "ZNRD1ASP" ; IAO:0000142 PMID:8575815, PMID:9553157 ; - oboInOwl:hasDbXref UMLS:C1422276 ; oboInOwl:hasExactSynonym "ZNRD1ASP", "chromosome 6 open reading frame 12", "hcgviii", @@ -455319,17 +472019,19 @@ OMIM:615714 a owl:Class ; "znrd1 antisense RNA 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:80862 ; - skos:exactMatch HGNC_symbol:ZNRD1ASP ; + skos:exactMatch UMLS:C1422276, + HGNC:13924, + HGNC_symbol:ZNRD1ASP ; biolink:category biolink:Gene . OMIM:615715 a owl:Class ; rdfs:label "bone marrow failure syndrome 2" ; IAO:0000142 PMID:24507776, PMID:27185855 ; - oboInOwl:hasDbXref UMLS:C3810350 ; oboInOwl:hasExactSynonym "BMFS2", "bone marrow failure syndrome 2" ; rdfs:subClassOf OMIMPS:614675 ; + skos:exactMatch UMLS:C3810350 ; biolink:category biolink:Disease . OMIM:615716 a owl:Class ; @@ -455339,12 +472041,12 @@ OMIM:615716 a owl:Class ; PMID:29620724, PMID:30217754, PMID:30345601 ; - oboInOwl:hasDbXref UMLS:C3810354, - ORPHA:247262 ; oboInOwl:hasExactSynonym "HPMRS4", "glycosylphosphatidylinositol biosynthesis defect 10", "hyperphosphatasia with mental retardation syndrome 4" ; rdfs:subClassOf OMIMPS:239300 ; + skos:exactMatch UMLS:C3810354, + ORPHA:247262 ; biolink:category biolink:Disease . OMIM:615721 a owl:Class ; @@ -455352,36 +472054,36 @@ OMIM:615721 a owl:Class ; IAO:0000142 PMID:12694239, PMID:22698282, PMID:24439109 ; - oboInOwl:hasDbXref UMLS:C3810359 ; oboInOwl:hasExactSynonym "RHDA2", "renal hypodysplasia/aplasia 2" ; rdfs:subClassOf OMIMPS:191830 ; + skos:exactMatch UMLS:C3810359 ; biolink:category biolink:Disease . OMIM:615722 a owl:Class ; rdfs:label "bosch-boonstra-schaaf optic atrophy syndrome" ; IAO:0000142 PMID:24462372 ; - oboInOwl:hasDbXref UMLS:C3810363 ; oboInOwl:hasExactSynonym "BBSOAS", "bosch-boonstra-schaaf optic atrophy syndrome" ; + skos:exactMatch UMLS:C3810363 ; biolink:category biolink:Disease . OMIM:615724 a owl:Class ; rdfs:label "premature ovarian failure 9" ; IAO:0000142 PMID:24597873 ; - oboInOwl:hasDbXref UMLS:C3810376 ; oboInOwl:hasExactSynonym "POF9", "premature ovarian failure 9" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C3810376 ; biolink:category biolink:Disease . OMIM:615725 a owl:Class ; rdfs:label "retinitis pigmentosa 68" ; IAO:0000142 PMID:24670872 ; - oboInOwl:hasDbXref UMLS:C3810380 ; oboInOwl:hasExactSynonym "RP68", "retinitis pigmentosa 68" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C3810380 ; biolink:category biolink:Disease . OMIM:615726 a owl:Class ; @@ -455399,11 +472101,11 @@ OMIM:615726 a owl:Class ; PMID:31823354, PMID:7545493, PMID:9618173 ; - oboInOwl:hasDbXref UMLS:C3714948, - ORPHA:2309 ; oboInOwl:hasExactSynonym "PC3", "pachyonychia congenita 3" ; rdfs:subClassOf OMIMPS:167200 ; + skos:exactMatch UMLS:C3714948, + ORPHA:2309 ; biolink:category biolink:Disease . OMIM:615728 a owl:Class ; @@ -455417,20 +472119,20 @@ OMIM:615728 a owl:Class ; PMID:24611874, PMID:31823354, PMID:9618173 ; - oboInOwl:hasDbXref UMLS:C3714949, - ORPHA:2309 ; oboInOwl:hasExactSynonym "PC4", "pachyonychia congenita 4" ; rdfs:subClassOf OMIMPS:167200 ; + skos:exactMatch UMLS:C3714949, + ORPHA:2309 ; biolink:category biolink:Disease . OMIM:615731 a owl:Class ; rdfs:label "nemaline myopathy 9" ; IAO:0000142 PMID:24268659 ; - oboInOwl:hasDbXref UMLS:C3810384 ; oboInOwl:hasExactSynonym "NEM9", "nemaline myopathy 9" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C3810384 ; biolink:category biolink:Disease . OMIM:615735 a owl:Class ; @@ -455439,9 +472141,9 @@ OMIM:615735 a owl:Class ; PMID:20081885, PMID:21801157, PMID:23662636 ; - oboInOwl:hasDbXref UMLS:C3810394 ; oboInOwl:hasExactSynonym "PPKNEFD", "palmoplantar keratoderma, nonepidermolytic, focal or diffuse" ; + skos:exactMatch UMLS:C3810394 ; biolink:category biolink:Disease . OMIM:615745 a owl:Class ; @@ -455449,46 +472151,46 @@ OMIM:615745 a owl:Class ; IAO:0000142 PMID:16176547, PMID:23275345, PMID:6225642 ; - oboInOwl:hasDbXref UMLS:C3810401 ; oboInOwl:hasExactSynonym "ATRST2", "atrial dilation and standstill", "atrial standstill 2", "cardiomyopathy, atrial dilated, with atrial standstill" ; + skos:exactMatch UMLS:C3810401 ; biolink:category biolink:Disease . OMIM:615749 a owl:Class ; rdfs:label "eculizumab, poor response to" ; IAO:0000142 PMID:24521109 ; - oboInOwl:hasDbXref UMLS:C3810402 ; oboInOwl:hasExactSynonym "eculizumab, poor response to" ; + skos:exactMatch UMLS:C3810402 ; biolink:category biolink:Disease . OMIM:615750 a owl:Class ; rdfs:label "moyamoya disease 6 with or without achalasia" ; IAO:0000142 PMID:24581742, PMID:26777256 ; - oboInOwl:hasDbXref UMLS:C3810403 ; oboInOwl:hasExactSynonym "MYMY6", "moyamoya disease 6 with or without achalasia" ; rdfs:subClassOf OMIMPS:252350 ; + skos:exactMatch UMLS:C3810403 ; biolink:category biolink:Disease . OMIM:615751 a owl:Class ; rdfs:label "carbonic anhydrase 5a deficiency, hyperammonemia due to" ; IAO:0000142 PMID:24530203, PMID:26913920 ; - oboInOwl:hasDbXref UMLS:C3810404 ; oboInOwl:hasExactSynonym "CA5AD", "carbonic anhydrase 5a deficiency, hyperammonemia due to" ; + skos:exactMatch UMLS:C3810404 ; biolink:category biolink:Disease . OMIM:615752 a owl:Class ; rdfs:label "polymicrogyria, bilateral perisylvian, autosomal recessive" ; IAO:0000142 PMID:24531968 ; - oboInOwl:hasDbXref UMLS:C3810405 ; oboInOwl:hasExactSynonym "BPPR", "pmgr", "polymicrogyria, bilateral perisylvian, autosomal recessive" ; + skos:exactMatch UMLS:C3810405 ; biolink:category biolink:Disease . OMIM:615758 a owl:Class ; @@ -455496,18 +472198,18 @@ OMIM:615758 a owl:Class ; IAO:0000142 PMID:11351273, PMID:22985903, PMID:9664084 ; - oboInOwl:hasDbXref UMLS:C4014233 ; oboInOwl:hasExactSynonym "IMD22", "immunodeficiency 22" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4014233 ; biolink:category biolink:Disease . OMIM:615760 a owl:Class ; rdfs:label "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" ; IAO:0000142 PMID:24656866 ; - oboInOwl:hasDbXref UMLS:C4014239 ; oboInOwl:hasExactSynonym "MSCCA", "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" ; + skos:exactMatch UMLS:C4014239 ; biolink:category biolink:Disease . OMIM:615761 a owl:Class ; @@ -455515,30 +472217,30 @@ OMIM:615761 a owl:Class ; IAO:0000142 PMID:23020937, PMID:24680889, PMID:25138099 ; - oboInOwl:hasDbXref UMLS:C3810406 ; oboInOwl:hasExactSynonym "MRD23", "intellectual developmental disorder, autosomal dominant 23", "mental retardation, autosomal dominant 23" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C3810406 ; biolink:category biolink:Disease . OMIM:615763 a owl:Class ; rdfs:label "cortical dysplasia, complex, with other brain malformations 5" ; IAO:0000142 PMID:24702957 ; - oboInOwl:hasDbXref UMLS:C3810407 ; oboInOwl:hasExactSynonym "CDCBM5", "cortical dysplasia, complex, with other brain malformations 5" ; rdfs:subClassOf OMIMPS:614039 ; + skos:exactMatch UMLS:C3810407 ; biolink:category biolink:Disease . OMIM:615767 a owl:Class ; rdfs:label "immunodeficiency, common variable, 11" ; IAO:0000142 PMID:24746753 ; - oboInOwl:hasDbXref UMLS:C4014258 ; oboInOwl:hasExactSynonym "CVID11", "il21 deficiency", "immunodeficiency, common variable, 11" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C4014258 ; biolink:category biolink:Disease . OMIM:615768 a owl:Class ; @@ -455549,33 +472251,33 @@ OMIM:615768 a owl:Class ; PMID:24742043, PMID:25258038, PMID:33417001 ; - oboInOwl:hasDbXref UMLS:C4014261, - ORPHA:412057 ; oboInOwl:hasExactSynonym "SCAR16", "spinocerebellar ataxia, autosomal recessive 16" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4014261, + ORPHA:412057 ; biolink:category biolink:Disease . OMIM:615770 a owl:Class ; rdfs:label "atrial fibrillation, familial, 15" ; IAO:0000142 PMID:15596564, PMID:19070573 ; - oboInOwl:hasDbXref UMLS:C4014269 ; oboInOwl:hasExactSynonym "ATFB15", "atrial fibrillation, familial, 15" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C4014269 ; biolink:category biolink:Disease . OMIM:615774 a owl:Class ; rdfs:label "oocyte maturation defect 1" ; IAO:0000142 PMID:24670168, PMID:30810869 ; - oboInOwl:hasDbXref UMLS:C4014291, - ORPHA:404466 ; oboInOwl:hasExactSynonym "OOMD1", "oocyte maturation defect 1", "oomd" ; rdfs:subClassOf OMIMPS:615774 ; + skos:exactMatch UMLS:C4014291, + ORPHA:404466 ; biolink:category biolink:Disease . OMIM:615777 a owl:Class ; @@ -455585,12 +472287,12 @@ OMIM:615777 a owl:Class ; PMID:23982343, PMID:24581741, PMID:30554721 ; - oboInOwl:hasDbXref UMLS:C4014294, - ORPHA:1425 ; oboInOwl:hasExactSynonym "DBQD2", "baratela-scott syndrome", "desbuquois dysplasia 2" ; rdfs:subClassOf OMIMPS:251450 ; + skos:exactMatch UMLS:C4014294, + ORPHA:1425 ; biolink:category biolink:Disease . OMIM:615779 a owl:Class ; @@ -455602,40 +472304,40 @@ OMIM:615779 a owl:Class ; PMID:29222010, PMID:29570242, PMID:29663647 ; - oboInOwl:hasDbXref UMLS:C4014310, + oboInOwl:hasExactSynonym "CHTD4", + "congenital heart defects, multiple types, 4" ; + skos:exactMatch UMLS:C4014310, ORPHA:98722, ORPHA:99067, ORPHA:99068 ; - oboInOwl:hasExactSynonym "CHTD4", - "congenital heart defects, multiple types, 4" ; biolink:category biolink:Disease . OMIM:615780 a owl:Class ; rdfs:label "retinitis pigmentosa 69" ; IAO:0000142 PMID:24680887 ; - oboInOwl:hasDbXref UMLS:C4014312 ; oboInOwl:hasExactSynonym "RP69", "retinitis pigmentosa 69" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4014312 ; biolink:category biolink:Disease . OMIM:615785 a owl:Class ; rdfs:label "white sponge nevus 2" ; IAO:0000142 PMID:7493031 ; - oboInOwl:hasDbXref UMLS:C4014321, - ORPHA:171723 ; oboInOwl:hasExactSynonym "WSN2", "white sponge nevus 2" ; rdfs:subClassOf OMIMPS:193900 ; + skos:exactMatch UMLS:C4014321, + ORPHA:171723 ; biolink:category biolink:Disease . OMIM:615789 a owl:Class ; rdfs:label "short stature with microcephaly and distinctive facies" ; IAO:0000142 PMID:24389050, PMID:27250922 ; - oboInOwl:hasDbXref UMLS:C4014339 ; oboInOwl:hasExactSynonym "SSMCF", "short stature with microcephaly and distinctive facies" ; + skos:exactMatch UMLS:C4014339 ; biolink:category biolink:Disease . OMIM:615802 a owl:Class ; @@ -455645,11 +472347,11 @@ OMIM:615802 a owl:Class ; PMID:25804403, PMID:25823418, PMID:26050939 ; - oboInOwl:hasDbXref UMLS:C4014343 ; oboInOwl:hasExactSynonym "NEDDSBA", "glycosylphosphatidylinositol biosynthesis defect 9", "mental retardation, autosomal recessive 42", "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities" ; + skos:exactMatch UMLS:C4014343 ; biolink:category biolink:Disease . OMIM:615803 a owl:Class ; @@ -455658,20 +472360,20 @@ OMIM:615803 a owl:Class ; PMID:24766809, PMID:24766810, PMID:29307788 ; - oboInOwl:hasDbXref UMLS:C4014347 ; oboInOwl:hasExactSynonym "PCH10", "pontocerebellar hypoplasia, iia 10" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C4014347 ; biolink:category biolink:Disease . OMIM:615809 a owl:Class ; rdfs:label "pontocerebellar hypoplasia, iia 9" ; IAO:0000142 PMID:23911318, PMID:27066553 ; - oboInOwl:hasDbXref UMLS:C4014354 ; oboInOwl:hasExactSynonym "PCH9", "pontocerebellar hypoplasia, iia 9" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C4014354 ; biolink:category biolink:Disease . OMIM:615812 a owl:Class ; @@ -455679,31 +472381,31 @@ OMIM:615812 a owl:Class ; IAO:0000142 PMID:24827035, PMID:25140973, PMID:25140974 ; - oboInOwl:hasDbXref UMLS:C4014361 ; oboInOwl:hasExactSynonym "AOMS3", "abdominal obesity-metabolic syndrome 3", "central obesity, iia 2 diabetes, hypertension, and early-onset coronary artery disease" ; rdfs:subClassOf OMIMPS:605552 ; + skos:exactMatch UMLS:C4014361 ; biolink:category biolink:Disease . OMIM:615817 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 43" ; IAO:0000142 PMID:21498477 ; - oboInOwl:hasDbXref UMLS:C4014386 ; oboInOwl:hasExactSynonym "MRT43", "intellectual developmental disorder, autosomal recessive 43", "mental retardation, autosomal recessive 43" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4014386 ; biolink:category biolink:Disease . OMIM:615824 a owl:Class ; rdfs:label "mitochondrial complex 3 deficiency, nuclear iia 7" ; IAO:0000142 PMID:24385928, PMID:28804536 ; - oboInOwl:hasDbXref UMLS:C4014408 ; oboInOwl:hasExactSynonym "MC3DN7", "mitochondrial complex 3 deficiency, nuclear iia 7" ; rdfs:subClassOf OMIMPS:124000 ; + skos:exactMatch UMLS:C4014408 ; biolink:category biolink:Disease . OMIM:615828 a owl:Class ; @@ -455714,13 +472416,13 @@ OMIM:615828 a owl:Class ; PMID:28940898, PMID:30451703, PMID:30923367 ; - oboInOwl:hasDbXref UMLS:C4014414, - ORPHA:178469 ; oboInOwl:hasExactSynonym "VSVS", "intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures", "mental retardation, autosomal dominant 24", "vulto-van silfhout-de vries syndrome" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4014414, + ORPHA:178469 ; biolink:category biolink:Disease . OMIM:615829 a owl:Class ; @@ -455730,12 +472432,12 @@ OMIM:615829 a owl:Class ; PMID:29230160, PMID:30152016, PMID:30858058 ; - oboInOwl:hasDbXref UMLS:C4014419, - UMLS:C5436345, - ORPHA:412069 ; oboInOwl:hasExactSynonym "XIGIS", "mental retardation, autosomal dominant 25, formerly", "xia-gibbs syndrome" ; + skos:exactMatch UMLS:C4014419, + UMLS:C5436345, + ORPHA:412069 ; biolink:category biolink:Disease . OMIM:615830 a owl:Class ; @@ -455747,14 +472449,14 @@ OMIM:615830 a owl:Class ; PMID:25924874 ; RO:0002525 CHR:9606chr19p13 ; RO:0003303 OMIM:4 ; - oboInOwl:hasDbXref UMLS:C4014425, - ORPHA:189439 ; oboInOwl:hasExactSynonym "PPNAD4", "acth-independent adrenal cushing syndrome, somatic", "chromosome 19p13 duplication syndrome", "cushing syndrome, adrenal, due to ppnad4", "pigmented nodular adrenocortical disease, primary, 4" ; rdfs:subClassOf OMIMPS:610489 ; + skos:exactMatch UMLS:C4014425, + ORPHA:189439 ; biolink:category biolink:Disease . OMIM:615833 a owl:Class ; @@ -455762,12 +472464,12 @@ OMIM:615833 a owl:Class ; IAO:0000142 PMID:24399846, PMID:30525121, PMID:30626896 ; - oboInOwl:hasDbXref UMLS:C4014430, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE21", "developmental and epileptic encephalopathy 21", "epileptic encephalopathy, early infantile, 21" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4014430, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:615834 a owl:Class ; @@ -455776,58 +472478,58 @@ OMIM:615834 a owl:Class ; PMID:23332918, PMID:25205402, PMID:27075013 ; - oboInOwl:hasDbXref UMLS:C4014435 ; oboInOwl:hasExactSynonym "MRD26", "intellectual developmental disorder, autosomal dominant 26", "mental retardation, autosomal dominant 26" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4014435 ; biolink:category biolink:Disease . OMIM:615837 a owl:Class ; rdfs:label "deafness, autosomal recessive 101" ; IAO:0000142 PMID:24619944 ; - oboInOwl:hasDbXref UMLS:C3892049 ; oboInOwl:hasExactSynonym "DFNB101", "deafness, autosomal recessive 101" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3892049 ; biolink:category biolink:Disease . OMIM:615838 a owl:Class ; rdfs:label "mitochondrial complex 3 deficiency, nuclear iia 8" ; IAO:0000142 PMID:24014394, PMID:26912632 ; - oboInOwl:hasDbXref UMLS:C4014440 ; oboInOwl:hasExactSynonym "MC3DN8", "mitochondrial complex 3 deficiency, nuclear iia 8" ; rdfs:subClassOf OMIMPS:124000 ; + skos:exactMatch UMLS:C4014440 ; biolink:category biolink:Disease . OMIM:615841 a owl:Class ; rdfs:label "spermatogenic failure 13" ; IAO:0000142 PMID:24431330 ; - oboInOwl:hasDbXref UMLS:C4014449 ; oboInOwl:hasExactSynonym "SPGF13", "spermatogenic failure 13" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4014449 ; biolink:category biolink:Disease . OMIM:615842 a owl:Class ; rdfs:label "spermatogenic failure 14" ; IAO:0000142 PMID:24431330 ; - oboInOwl:hasDbXref UMLS:C4014454 ; oboInOwl:hasExactSynonym "SPGF14", "spermatogenic failure 14" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4014454 ; biolink:category biolink:Disease . OMIM:615848 a owl:Class ; rdfs:label "melanoma, cutaneous malignant, susceptibility to, 10" ; IAO:0000142 PMID:24686846, PMID:24686849 ; - oboInOwl:hasDbXref UMLS:C4014476 ; oboInOwl:hasExactSynonym "CMM10", "melanoma, cutaneous malignant, susceptibility to, 10" ; rdfs:subClassOf OMIMPS:155600 ; + skos:exactMatch UMLS:C4014476 ; biolink:category biolink:Disease . OMIM:615851 a owl:Class ; @@ -455835,79 +472537,79 @@ OMIM:615851 a owl:Class ; IAO:0000142 PMID:12920088, PMID:24577744, PMID:30100179 ; - oboInOwl:hasDbXref UMLS:C4014488 ; oboInOwl:hasExactSynonym "PCH2E", "pontocerebellar hypoplasia, iia 2e" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C4014488 ; biolink:category biolink:Disease . OMIM:615859 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 23" ; IAO:0000142 PMID:24814191 ; - oboInOwl:hasDbXref UMLS:C4014492, - ORPHA:411986 ; oboInOwl:hasExactSynonym "DEE23", "developmental and epileptic encephalopathy 23", "epileptic encephalopathy, early infantile, 23" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4014492, + ORPHA:411986 ; biolink:category biolink:Disease . OMIM:615860 a owl:Class ; rdfs:label "cone-rod dystrophy 19" ; IAO:0000142 PMID:24791901 ; - oboInOwl:hasDbXref UMLS:C4014501 ; oboInOwl:hasExactSynonym "CORD19", "cone-rod dystrophy 19" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C4014501 ; biolink:category biolink:Disease . OMIM:615861 a owl:Class ; rdfs:label "nephrotic syndrome, iia 10" ; IAO:0000142 PMID:24814193 ; - oboInOwl:hasDbXref UMLS:C4014507 ; oboInOwl:hasExactSynonym "NPHS10", "nephrotic syndrome, iia 10" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C4014507 ; biolink:category biolink:Disease . OMIM:615862 a owl:Class ; rdfs:label "nephronophthisis 18" ; IAO:0000142 PMID:24882706 ; - oboInOwl:hasDbXref UMLS:C3890591 ; oboInOwl:hasExactSynonym "NPHP18", "nephronophthisis 18" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C3890591 ; biolink:category biolink:Disease . OMIM:615863 a owl:Class ; rdfs:label "diarrhea 7, protein-losing enteropathy iia" ; IAO:0000142 PMID:23114594 ; - oboInOwl:hasDbXref UMLS:C4014516 ; oboInOwl:hasExactSynonym "DIAR7", "diarrhea 7, protein-losing enteropathy iia" ; rdfs:subClassOf OMIMPS:214700 ; + skos:exactMatch UMLS:C4014516 ; biolink:category biolink:Disease . OMIM:615866 a owl:Class ; rdfs:label "coffin-siris syndrome 9" ; IAO:0000142 PMID:24886874 ; - oboInOwl:hasDbXref UMLS:C4014528, - ORPHA:1465 ; oboInOwl:hasExactSynonym "CSS9", "coffin-siris syndrome 9", "mental retardation, autosomal dominant 27" ; rdfs:subClassOf OMIMPS:135900 ; + skos:exactMatch UMLS:C4014528, + ORPHA:1465 ; biolink:category biolink:Disease . OMIM:615872 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 29" ; IAO:0000142 PMID:24747639, PMID:24824133 ; - oboInOwl:hasDbXref UMLS:C4014534 ; oboInOwl:hasExactSynonym "CILD29", "ciliary dyskinesia, primary, 29", "ciliary dyskinesia, primary, 29, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4014534 ; biolink:category biolink:Disease . OMIM:615873 a owl:Class ; @@ -455918,10 +472620,10 @@ OMIM:615873 a owl:Class ; PMID:29724491, PMID:31029150, PMID:32758449 ; - oboInOwl:hasDbXref UMLS:C4014538 ; oboInOwl:hasExactSynonym "HVDAS", "helsmoortel-van der aa syndrome", "mental retardation, autosomal dominant 28, formerly" ; + skos:exactMatch UMLS:C4014538 ; biolink:category biolink:Disease . OMIM:615877 a owl:Class ; @@ -455929,12 +472631,12 @@ OMIM:615877 a owl:Class ; IAO:0000142 PMID:24906020, PMID:25719200, PMID:26116559 ; - oboInOwl:hasDbXref UMLS:C4014540 ; oboInOwl:hasExactSynonym "MCSKS", "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia", "microphthalmia, syndromic 14", "microphthalmia/coloboma and skeletal dysplasia syndrome" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C4014540 ; biolink:category biolink:Disease . OMIM:615879 a owl:Class ; @@ -455945,10 +472647,10 @@ OMIM:615879 a owl:Class ; PMID:28432085, PMID:28941052, PMID:31961069 ; - oboInOwl:hasDbXref UMLS:C4014545, - ORPHA:404443 ; oboInOwl:hasExactSynonym "TBRS", "tatton-brown-rahman syndrome" ; + skos:exactMatch UMLS:C4014545, + ORPHA:404443 ; biolink:category biolink:Disease . OMIM:615881 a owl:Class ; @@ -455956,9 +472658,9 @@ OMIM:615881 a owl:Class ; IAO:0000142 PMID:19075393, PMID:26933753, PMID:26934567 ; - oboInOwl:hasDbXref UMLS:C4014553 ; oboInOwl:hasExactSynonym "TGQTL", "plasma triglyceride level quantitative trait locus" ; + skos:exactMatch UMLS:C4014553 ; biolink:category biolink:Disease . OMIM:615883 a owl:Class ; @@ -455967,47 +472669,47 @@ OMIM:615883 a owl:Class ; PMID:24591628, PMID:25227914, PMID:27882542 ; - oboInOwl:hasDbXref UMLS:C4014557 ; oboInOwl:hasExactSynonym "TAM2", "myopathy, tubular aggregate, 2" ; rdfs:subClassOf OMIMPS:160565 ; + skos:exactMatch UMLS:C4014557 ; biolink:category biolink:Disease . OMIM:615885 a owl:Class ; rdfs:label "hypotrichosis 12" ; IAO:0000142 PMID:19751230, PMID:21412954 ; - oboInOwl:hasDbXref UMLS:C4014563 ; oboInOwl:hasExactSynonym "HYPT12", "hypotrichosis 12" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C4014563 ; biolink:category biolink:Disease . OMIM:615888 a owl:Class ; rdfs:label "bleeding disorder, platelet-type, 18" ; IAO:0000142 PMID:24958846 ; - oboInOwl:hasDbXref UMLS:C4014584 ; oboInOwl:hasExactSynonym "BDPLT18", "bleeding disorder, platelet-type, 18" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C4014584 ; biolink:category biolink:Disease . OMIM:615889 a owl:Class ; rdfs:label "leukoencephalopathy, progressive, with ovarian failure" ; IAO:0000142 PMID:24808023 ; - oboInOwl:hasDbXref UMLS:C4014588 ; oboInOwl:hasExactSynonym "LKENP", "leukoencephalopathy, progressive, with ovarian failure" ; + skos:exactMatch UMLS:C4014588 ; biolink:category biolink:Disease . OMIM:615892 a owl:Class ; rdfs:label "orofacial cleft 14" ; IAO:0000142 PMID:23860042 ; RO:0002525 CHR:9606chr1p31 ; - oboInOwl:hasDbXref UMLS:C4014596 ; oboInOwl:hasExactSynonym "OFC14", "orofacial cleft 14" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C4014596 ; biolink:category biolink:Disease . OMIM:615895 a owl:Class ; @@ -456017,30 +472719,30 @@ OMIM:615895 a owl:Class ; PMID:23798481, PMID:23889995, PMID:7971833 ; - oboInOwl:hasDbXref UMLS:C4014605 ; oboInOwl:hasExactSynonym "PGBM1", "polyglucosan body myopathy 1 with or without immunodeficiency", "polyglucosan body myopathy, early-onset, with or without immunodeficiency" ; rdfs:subClassOf OMIMPS:615895 ; + skos:exactMatch UMLS:C4014605 ; biolink:category biolink:Disease . OMIM:615896 a owl:Class ; rdfs:label "hypotrichosis 13" ; IAO:0000142 PMID:22592156 ; - oboInOwl:hasDbXref UMLS:C4014616 ; oboInOwl:hasExactSynonym "HYPT13", "hypotrichosis 13", "hypotrichosis with woolly hair" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C4014616 ; biolink:category biolink:Disease . OMIM:615897 a owl:Class ; rdfs:label "immunodeficiency 24" ; IAO:0000142 PMID:24870241 ; - oboInOwl:hasDbXref UMLS:C4014617 ; oboInOwl:hasExactSynonym "IMD24", "immunodeficiency 24" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4014617 ; biolink:category biolink:Disease . OMIM:615905 a owl:Class ; @@ -456050,32 +472752,32 @@ OMIM:615905 a owl:Class ; PMID:26384929, PMID:27600704, PMID:27913086 ; - oboInOwl:hasDbXref UMLS:C4014621, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE25", "developmental and epileptic encephalopathy 25 with amelogenesis imperfecta", "epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4014621, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:615907 a owl:Class ; rdfs:label "lymphatic malformation 4" ; IAO:0000142 PMID:23410910, PMID:24744435 ; - oboInOwl:hasDbXref UMLS:C4747769 ; oboInOwl:hasExactSynonym "LMPHM4", "lymphatic malformation 4", "lymphedema, hereditary, id, formerly" ; rdfs:subClassOf OMIMPS:153100 ; + skos:exactMatch UMLS:C4747769 ; biolink:category biolink:Disease . OMIM:615909 a owl:Class ; rdfs:label "diamond-blackfan anemia 13" ; IAO:0000142 PMID:24829207 ; - oboInOwl:hasDbXref UMLS:C4014641 ; oboInOwl:hasExactSynonym "DBA13", "diamond-blackfan anemia 13" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C4014641 ; biolink:category biolink:Disease . OMIM:615917 a owl:Class ; @@ -456085,66 +472787,66 @@ OMIM:615917 a owl:Class ; PMID:27502409, PMID:29314548, PMID:31064326 ; - oboInOwl:hasDbXref UMLS:C4014660, - ORPHA:420728 ; oboInOwl:hasExactSynonym "COXPD20", "combined oxidative phosphorylation deficiency 20" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4014660, + ORPHA:420728 ; biolink:category biolink:Disease . OMIM:615918 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 21" ; IAO:0000142 PMID:24827421 ; - oboInOwl:hasDbXref UMLS:C4014668 ; oboInOwl:hasExactSynonym "COXPD21", "combined oxidative phosphorylation deficiency 21" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4014668 ; biolink:category biolink:Disease . OMIM:615919 a owl:Class ; rdfs:label "ataxia-telangiectasia-like disorder 2" ; IAO:0000142 PMID:24911150 ; - oboInOwl:hasDbXref UMLS:C4014676 ; oboInOwl:hasExactSynonym "ATLD2", "ataxia-telangiectasia-like disorder 2" ; rdfs:subClassOf OMIMPS:604391 ; + skos:exactMatch UMLS:C4014676 ; biolink:category biolink:Disease . OMIM:615922 a owl:Class ; rdfs:label "retinitis pigmentosa 70" ; IAO:0000142 PMID:24419317, PMID:24959063 ; - oboInOwl:hasDbXref UMLS:C4014681 ; oboInOwl:hasExactSynonym "RP70", "retinitis pigmentosa 70" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4014681 ; biolink:category biolink:Disease . OMIM:615925 a owl:Class ; rdfs:label "growth hormone deficiency, isolated partial" ; IAO:0000142 PMID:16511605, PMID:19789204 ; - oboInOwl:hasDbXref UMLS:C1858656 ; oboInOwl:hasExactSynonym "GHDP", "growth hormone deficiency, isolated partial" ; + skos:exactMatch UMLS:C1858656 ; biolink:category biolink:Disease . OMIM:615926 a owl:Class ; rdfs:label "webb-dattani syndrome" ; IAO:0000142 PMID:24022475 ; - oboInOwl:hasDbXref UMLS:C4014708 ; oboInOwl:hasExactSynonym "WEDAS", "hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies", "webb-dattani syndrome" ; + skos:exactMatch UMLS:C4014708 ; biolink:category biolink:Disease . OMIM:615934 a owl:Class ; rdfs:label "sting-associated vasculopathy, infantile-onset" ; IAO:0000142 PMID:25029335, PMID:25401470 ; - oboInOwl:hasDbXref UMLS:C4014722 ; oboInOwl:hasExactSynonym "SAVI", "sting-associated vasculopathy, infantile-onset" ; + skos:exactMatch UMLS:C4014722 ; biolink:category biolink:Disease . OMIM:615937 a owl:Class ; @@ -456155,32 +472857,32 @@ OMIM:615937 a owl:Class ; PMID:22729223, PMID:22729224, PMID:23745724 ; - oboInOwl:hasDbXref UMLS:C4014738, - ORPHA:83473 ; oboInOwl:hasExactSynonym "MPPH2", "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" ; rdfs:subClassOf OMIMPS:603387 ; + skos:exactMatch UMLS:C4014738, + ORPHA:83473 ; biolink:category biolink:Disease . OMIM:615938 a owl:Class ; rdfs:label "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" ; IAO:0000142 PMID:22228622, PMID:24705253 ; - oboInOwl:hasDbXref UMLS:C4014742 ; oboInOwl:hasExactSynonym "MPPH3", "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" ; rdfs:subClassOf OMIMPS:603387 ; + skos:exactMatch UMLS:C4014742 ; biolink:category biolink:Disease . OMIM:615942 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 44" ; IAO:0000142 PMID:24501276, PMID:24626631 ; - oboInOwl:hasDbXref UMLS:C4014745 ; oboInOwl:hasExactSynonym "MRT44", "intellectual developmental disorder, autosomal recessive 44", "mental retardation, autosomal recessive 44" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4014745 ; biolink:category biolink:Disease . OMIM:615945 a owl:Class ; @@ -456188,20 +472890,20 @@ OMIM:615945 a owl:Class ; IAO:0000142 PMID:23700170, PMID:28686858, PMID:29939198 ; - oboInOwl:hasDbXref UMLS:C3889636, - ORPHA:363710 ; oboInOwl:hasExactSynonym "SCA37", "spinocerebellar ataxia 37" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C3889636, + ORPHA:363710 ; biolink:category biolink:Disease . OMIM:615946 a owl:Class ; rdfs:label "myopia 24, autosomal dominant" ; IAO:0000142 PMID:24891338 ; - oboInOwl:hasDbXref UMLS:C4014762 ; oboInOwl:hasExactSynonym "MYP24", "myopia 24, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C4014762 ; biolink:category biolink:Disease . OMIM:615947 a owl:Class ; @@ -456215,8 +472917,8 @@ OMIM:615947 a owl:Class ; PMID:22239554, PMID:24614124, PMID:24847059 ; - oboInOwl:hasDbXref UMLS:C4014767 ; oboInOwl:hasExactSynonym "hyperlipoproteinemia, iia 1d" ; + skos:exactMatch UMLS:C4014767 ; biolink:category biolink:Disease . OMIM:615948 a owl:Class ; @@ -456225,10 +472927,10 @@ OMIM:615948 a owl:Class ; PMID:26477546, PMID:27094867, PMID:30097616 ; - oboInOwl:hasDbXref UMLS:C4014780 ; oboInOwl:hasExactSynonym "OFD14", "orofaciodigital syndrome 14" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C4014780 ; biolink:category biolink:Disease . OMIM:615953 a owl:Class ; @@ -456236,8 +472938,8 @@ OMIM:615953 a owl:Class ; IAO:0000142 PMID:11912256, PMID:15765151, PMID:24005896 ; - oboInOwl:hasDbXref UMLS:C1835808 ; oboInOwl:hasExactSynonym "kallikrein, decreased urinary activity of" ; + skos:exactMatch UMLS:C1835808 ; biolink:category biolink:Disease . OMIM:615954 a owl:Class ; @@ -456247,38 +472949,38 @@ OMIM:615954 a owl:Class ; PMID:24601692, PMID:24708098, PMID:24905064 ; - oboInOwl:hasDbXref UMLS:C4014803 ; oboInOwl:hasExactSynonym "AIMAH2", "acth-independent macronodular adrenal hyperplasia 2", "primary macronodular adrenal hyperplasia" ; + skos:exactMatch UMLS:C4014803 ; biolink:category biolink:Disease . OMIM:615957 a owl:Class ; rdfs:label "spinocerebellar ataxia 38" ; IAO:0000142 PMID:25065913 ; - oboInOwl:hasDbXref UMLS:C4518337 ; oboInOwl:hasExactSynonym "SCA38", "spinocerebellar ataxia 38" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C4518337 ; biolink:category biolink:Disease . OMIM:615959 a owl:Class ; rdfs:label "myopathy, centronuclear, 5" ; IAO:0000142 PMID:19118250, PMID:25087613 ; - oboInOwl:hasDbXref UMLS:C4014814 ; oboInOwl:hasExactSynonym "CNM5", "myopathy, centronuclear, 5" ; rdfs:subClassOf OMIMPS:160150 ; + skos:exactMatch UMLS:C4014814 ; biolink:category biolink:Disease . OMIM:615960 a owl:Class ; rdfs:label "poretti-boltshauser syndrome" ; IAO:0000142 PMID:24013853, PMID:25105227 ; - oboInOwl:hasDbXref UMLS:C4014821 ; oboInOwl:hasExactSynonym "PTBHS", "poretti-boltshauser syndrome" ; + skos:exactMatch UMLS:C4014821 ; biolink:category biolink:Disease . OMIM:615961 a owl:Class ; @@ -456286,9 +472988,9 @@ OMIM:615961 a owl:Class ; IAO:0000142 PMID:14762184, PMID:17726072, PMID:21396577 ; - oboInOwl:hasDbXref UMLS:C3900122 ; oboInOwl:hasExactSynonym "ACLSD", "acid-labile subunit deficiency" ; + skos:exactMatch UMLS:C3900122 ; biolink:category biolink:Disease . OMIM:615962 a owl:Class ; @@ -456308,7 +473010,6 @@ OMIM:615962 a owl:Class ; PMID:6841559, PMID:6952251, PMID:8445027 ; - oboInOwl:hasDbXref UMLS:C1841972 ; oboInOwl:hasExactSynonym "GCCR", "cortisol resistance from glucocorticoid receptor defect", "gccr deficiency", @@ -456316,15 +473017,16 @@ OMIM:615962 a owl:Class ; "glucocorticoid receptor deficiency", "glucocorticoid resistance, generalized", "grl deficiency" ; + skos:exactMatch UMLS:C1841972 ; biolink:category biolink:Disease . OMIM:615963 a owl:Class ; rdfs:label "vesicoureteral reflux 8" ; IAO:0000142 PMID:23620400 ; - oboInOwl:hasDbXref UMLS:C4014831 ; oboInOwl:hasExactSynonym "VUR8", "vesicoureteral reflux 8" ; rdfs:subClassOf OMIMPS:193000 ; + skos:exactMatch UMLS:C4014831 ; biolink:category biolink:Disease . OMIM:615966 a owl:Class ; @@ -456334,11 +473036,11 @@ OMIM:615966 a owl:Class ; PMID:7855601, PMID:8524788, PMID:9122213 ; - oboInOwl:hasDbXref UMLS:C4014833, - ORPHA:317425 ; oboInOwl:hasExactSynonym "IMD26", "immunodeficiency 26 with or without neurologic abnormalities" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4014833, + ORPHA:317425 ; biolink:category biolink:Disease . OMIM:615970 a owl:Class ; @@ -456346,9 +473048,9 @@ OMIM:615970 a owl:Class ; IAO:0000142 PMID:14699509, PMID:1690155, PMID:7684942 ; - oboInOwl:hasDbXref UMLS:C1863080 ; oboInOwl:hasExactSynonym "HPAFP", "alpha-fetoprotein, hereditary persistence of" ; + skos:exactMatch UMLS:C1863080 ; biolink:category biolink:Disease . OMIM:615972 a owl:Class ; @@ -456357,21 +473059,21 @@ OMIM:615972 a owl:Class ; PMID:21345985, PMID:24852644, PMID:26392740 ; - oboInOwl:hasDbXref UMLS:C4014848 ; oboInOwl:hasExactSynonym "NNO4", "nanophthalmia 4", "nanophthalmos 4" ; rdfs:subClassOf OMIMPS:600165 ; + skos:exactMatch UMLS:C4014848 ; biolink:category biolink:Disease . OMIM:615973 a owl:Class ; rdfs:label "cone-rod dystrophy 20" ; IAO:0000142 PMID:24945461, PMID:25018096 ; - oboInOwl:hasDbXref UMLS:C4014856 ; oboInOwl:hasExactSynonym "CORD20", "cone-rod dystrophy 20" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C4014856 ; biolink:category biolink:Disease . OMIM:615974 a owl:Class ; @@ -456379,19 +473081,19 @@ OMIM:615974 a owl:Class ; IAO:0000142 PMID:21236676, PMID:21526224, PMID:24741995 ; - oboInOwl:hasDbXref UMLS:C3892050 ; oboInOwl:hasExactSynonym "DFNB102", "deafness, autosomal recessive 102" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3892050 ; biolink:category biolink:Disease . OMIM:615979 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 45" ; IAO:0000142 PMID:24623383 ; - oboInOwl:hasDbXref UMLS:C4014864 ; oboInOwl:hasExactSynonym "MRT45", "intellectual developmental disorder, autosomal recessive 45" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4014864 ; biolink:category biolink:Disease . OMIM:615980 a owl:Class ; @@ -456400,11 +473102,11 @@ OMIM:615980 a owl:Class ; PMID:24848981, PMID:25475467, PMID:27862896 ; - oboInOwl:hasDbXref UMLS:C4014869 ; oboInOwl:hasExactSynonym "FPLD6", "lipodystrophy, familial partial, iia 6", "lipodystrophy, familial partial, associated with lipe mutations" ; rdfs:subClassOf OMIMPS:151660 ; + skos:exactMatch UMLS:C4014869 ; biolink:category biolink:Disease . OMIM:615982 a owl:Class ; @@ -456414,10 +473116,10 @@ OMIM:615982 a owl:Class ; PMID:15654695, PMID:7711739, PMID:8588586 ; - oboInOwl:hasDbXref UMLS:C2936864 ; oboInOwl:hasExactSynonym "BBS4", "bardet-biedl syndrome 4" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C2936864 ; biolink:category biolink:Disease . OMIM:615983 a owl:Class ; @@ -456429,10 +473131,10 @@ OMIM:615983 a owl:Class ; PMID:18203199, PMID:19252258, PMID:25982971 ; - oboInOwl:hasDbXref UMLS:C3892039 ; oboInOwl:hasExactSynonym "BBS5", "bardet-biedl syndrome 5" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C3892039 ; biolink:category biolink:Disease . OMIM:615984 a owl:Class ; @@ -456441,10 +473143,10 @@ OMIM:615984 a owl:Class ; PMID:19252258, PMID:19797195, PMID:21937992 ; - oboInOwl:hasDbXref UMLS:C1859565 ; oboInOwl:hasExactSynonym "BBS7", "bardet-biedl syndrome 7" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C1859565 ; biolink:category biolink:Disease . OMIM:615985 a owl:Class ; @@ -456452,20 +473154,20 @@ OMIM:615985 a owl:Class ; IAO:0000142 PMID:14520415, PMID:16308660, PMID:19797195 ; - oboInOwl:hasDbXref UMLS:C1859566 ; oboInOwl:hasExactSynonym "BBS8", "bardet-biedl syndrome 8" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C1859566 ; biolink:category biolink:Disease . OMIM:615986 a owl:Class ; rdfs:label "bardet-biedl syndrome 9" ; IAO:0000142 PMID:16380913, PMID:22353939 ; - oboInOwl:hasDbXref UMLS:C1859567 ; oboInOwl:hasExactSynonym "BBS9", "bardet-biedl syndrome 9" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C1859567 ; biolink:category biolink:Disease . OMIM:615987 a owl:Class ; @@ -456476,10 +473178,10 @@ OMIM:615987 a owl:Class ; PMID:19797195, PMID:20805367, PMID:25982971 ; - oboInOwl:hasDbXref UMLS:C1859568 ; oboInOwl:hasExactSynonym "BBS10", "bardet-biedl syndrome 10" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C1859568 ; biolink:category biolink:Disease . OMIM:615989 a owl:Class ; @@ -456489,19 +473191,19 @@ OMIM:615989 a owl:Class ; PMID:19797195, PMID:20827784, PMID:25982971 ; - oboInOwl:hasDbXref UMLS:C1859570 ; oboInOwl:hasExactSynonym "BBS12", "bardet-biedl syndrome 12" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C1859570 ; biolink:category biolink:Disease . OMIM:615991 a owl:Class ; rdfs:label "bardet-biedl syndrome 14" ; IAO:0000142 PMID:18327255 ; - oboInOwl:hasDbXref UMLS:C2673874 ; oboInOwl:hasExactSynonym "BBS14", "bardet-biedl syndrome 14" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C2673874 ; biolink:category biolink:Disease . OMIM:615994 a owl:Class ; @@ -456509,28 +473211,28 @@ OMIM:615994 a owl:Class ; IAO:0000142 PMID:17163542, PMID:22510444, PMID:23692385 ; - oboInOwl:hasDbXref UMLS:C3714980 ; oboInOwl:hasExactSynonym "BBS17", "bardet-biedl syndrome 17" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C3714980 ; biolink:category biolink:Disease . OMIM:615995 a owl:Class ; rdfs:label "bardet-biedl syndrome 18" ; IAO:0000142 PMID:24026985 ; - oboInOwl:hasDbXref UMLS:C3806174 ; oboInOwl:hasExactSynonym "BBS18", "bardet-biedl syndrome 18" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C3806174 ; biolink:category biolink:Disease . OMIM:615996 a owl:Class ; rdfs:label "bardet-biedl syndrome 19" ; IAO:0000142 PMID:24488770 ; - oboInOwl:hasDbXref UMLS:C3889475 ; oboInOwl:hasExactSynonym "BBS19", "bardet-biedl syndrome 19" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C3889475 ; biolink:category biolink:Disease . OMIM:615999 a owl:Class ; @@ -456555,12 +473257,12 @@ OMIM:615999 a owl:Class ; PMID:8048949, PMID:8064810, PMID:9329347 ; - oboInOwl:hasDbXref UMLS:C0342185 ; oboInOwl:hasExactSynonym "FDAH", "euthyroid hyperthyroxinemia 1", "fdh", "hyperthyroxinemia, familial dysalbuminemic", "hypertriiodothyroninemia, familial dysalbuminemic" ; + skos:exactMatch UMLS:C0342185 ; biolink:category biolink:Disease . OMIM:616001 a owl:Class ; @@ -456568,10 +473270,10 @@ OMIM:616001 a owl:Class ; IAO:0000142 PMID:19533792, PMID:24781087, PMID:5635066 ; - oboInOwl:hasDbXref UMLS:C4014918 ; oboInOwl:hasExactSynonym "BNAH2", "breasts and/or nipples, aplasia or hypoplasia of, 2" ; rdfs:subClassOf OMIMPS:113700 ; + skos:exactMatch UMLS:C4014918 ; biolink:category biolink:Disease . OMIM:616004 a owl:Class ; @@ -456590,10 +473292,10 @@ OMIM:616004 a owl:Class ; PMID:5645286, PMID:6658714, PMID:7740487 ; - oboInOwl:hasDbXref UMLS:C0272350, - UMLS:C1859970 ; oboInOwl:hasExactSynonym "dysfibrinogenemia, congenital", "hypodysfibrinogenemia, congenital" ; + skos:exactMatch UMLS:C0272350, + UMLS:C1859970 ; biolink:category biolink:Disease . OMIM:616007 a owl:Class ; @@ -456606,68 +473308,68 @@ OMIM:616007 a owl:Class ; PMID:30041933, PMID:30419932, PMID:8409271 ; - oboInOwl:hasDbXref UMLS:C4014942 ; oboInOwl:hasExactSynonym "CAGSSS", "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" ; + skos:exactMatch UMLS:C4014942 ; biolink:category biolink:Disease . OMIM:616022 a owl:Class ; rdfs:label "neutropenia, severe congenital, 6, autosomal recessive" ; IAO:0000142 PMID:25129144 ; - oboInOwl:hasDbXref UMLS:C4014954 ; oboInOwl:hasExactSynonym "SCN6", "neutropenia, severe congenital, 6, autosomal recessive" ; rdfs:subClassOf OMIMPS:202700 ; + skos:exactMatch UMLS:C4014954 ; biolink:category biolink:Disease . OMIM:616025 a owl:Class ; rdfs:label "glycosylphosphatidylinositol biosynthesis defect 11" ; IAO:0000142 PMID:24367057, PMID:27626616 ; - oboInOwl:hasDbXref UMLS:C4014958, - ORPHA:247262 ; oboInOwl:hasExactSynonym "GPIBD11", "glycosylphosphatidylinositol biosynthesis defect 11", "hyperphosphatasia with mental retardation syndrome 5" ; rdfs:subClassOf OMIMPS:239300 ; + skos:exactMatch UMLS:C4014958, + ORPHA:247262 ; biolink:category biolink:Disease . OMIM:616029 a owl:Class ; rdfs:label "ectodermal dysplasia/short stature syndrome" ; IAO:0000142 PMID:25152456 ; - oboInOwl:hasDbXref UMLS:C4014987 ; oboInOwl:hasExactSynonym "ECTDS", "ectodermal dysplasia/short stature syndrome" ; + skos:exactMatch UMLS:C4014987 ; biolink:category biolink:Disease . OMIM:616030 a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 22 with or without anosmia" ; IAO:0000142 PMID:17761590, PMID:25192046 ; - oboInOwl:hasDbXref UMLS:C4014988 ; oboInOwl:hasExactSynonym "HH22", "hypogonadotropic hypogonadism 22 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C4014988 ; biolink:category biolink:Disease . OMIM:616032 a owl:Class ; rdfs:label "focal segmental glomerulosclerosis 8" ; IAO:0000142 PMID:24676636 ; - oboInOwl:hasDbXref UMLS:C4014993 ; oboInOwl:hasExactSynonym "FSGS8", "focal segmental glomerulosclerosis 8", "glomerulosclerosis, focal segmental, 8" ; rdfs:subClassOf OMIMPS:603278 ; + skos:exactMatch UMLS:C4014993 ; biolink:category biolink:Disease . OMIM:616033 a owl:Class ; rdfs:label "microcephaly, short stature, and impaired glucose metabolism 1" ; IAO:0000142 PMID:24204302, PMID:25053765 ; - oboInOwl:hasDbXref UMLS:C4014997 ; oboInOwl:hasExactSynonym "MSSGM1", "microcephaly, short stature, and impaired glucose metabolism 1", "mssgm" ; + skos:exactMatch UMLS:C4014997 ; biolink:category biolink:Disease . OMIM:616034 a owl:Class ; @@ -456676,10 +473378,10 @@ OMIM:616034 a owl:Class ; PMID:24847004, PMID:27940755, PMID:29388319 ; - oboInOwl:hasDbXref UMLS:C1857252, - ORPHA:431361 ; oboInOwl:hasExactSynonym "2,4-dienoyl-coa reductase deficiency", "DECRD" ; + skos:exactMatch UMLS:C1857252, + ORPHA:431361 ; biolink:category biolink:Disease . OMIM:616037 a owl:Class ; @@ -456687,20 +473389,20 @@ OMIM:616037 a owl:Class ; IAO:0000142 PMID:24067530, PMID:25192045, PMID:25224326 ; - oboInOwl:hasDbXref UMLS:C4015016 ; oboInOwl:hasExactSynonym "CILD30", "ciliary dyskinesia, primary, 30", "ciliary dyskinesia, primary, 30, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4015016 ; biolink:category biolink:Disease . OMIM:616038 a owl:Class ; rdfs:label "neu-laxova syndrome 2" ; IAO:0000142 PMID:25152457 ; - oboInOwl:hasDbXref UMLS:C4015019 ; oboInOwl:hasExactSynonym "NLS2", "neu-laxova syndrome 2" ; rdfs:subClassOf OMIMPS:256520 ; + skos:exactMatch UMLS:C4015019 ; biolink:category biolink:Disease . OMIM:616039 a owl:Class ; @@ -456708,81 +473410,81 @@ OMIM:616039 a owl:Class ; IAO:0000142 PMID:25152455, PMID:26302975, PMID:28364294 ; - oboInOwl:hasDbXref UMLS:C4015029 ; oboInOwl:hasExactSynonym "CMTRID", "charcot-marie-tooth disease, recessive intermediate d" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4015029 ; biolink:category biolink:Disease . OMIM:616042 a owl:Class ; rdfs:label "deafness, autosomal recessive 103" ; IAO:0000142 PMID:17021174, PMID:24781754 ; - oboInOwl:hasDbXref UMLS:C4015050 ; oboInOwl:hasExactSynonym "DFNB103", "deafness, autosomal recessive 103" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4015050 ; biolink:category biolink:Disease . OMIM:616050 a owl:Class ; rdfs:label "autoinflammation with infantile enterocolitis" ; IAO:0000142 PMID:25217959, PMID:25217960 ; - oboInOwl:hasDbXref UMLS:C4015067 ; oboInOwl:hasExactSynonym "AIFEC", "autoinflammation with infantile enterocolitis" ; + skos:exactMatch UMLS:C4015067 ; biolink:category biolink:Disease . OMIM:616051 a owl:Class ; rdfs:label "microcephaly 13, primary, autosomal recessive" ; IAO:0000142 PMID:24748105 ; - oboInOwl:hasDbXref UMLS:C4015080 ; oboInOwl:hasExactSynonym "MCPH13", "microcephaly 13, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4015080 ; biolink:category biolink:Disease . OMIM:616052 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7" ; IAO:0000142 PMID:23390185 ; - oboInOwl:hasDbXref UMLS:C4015095, - ORPHA:352479 ; oboInOwl:hasExactSynonym "MDDGC7", "muscular dystrophy, limb-girdle, iia 2u", "muscular dystrophy, limb-girdle, autosomal recessive 20", "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 7" ; rdfs:subClassOf OMIMPS:253600, OMIMPS:609308 ; + skos:exactMatch UMLS:C4015095, + ORPHA:352479 ; biolink:category biolink:Disease . OMIM:616055 a owl:Class ; rdfs:label "episodic ataxia, iia 8" ; IAO:0000142 PMID:23982692 ; RO:0002525 CHR:9606chr1p36.13-p34.3 ; - oboInOwl:hasDbXref UMLS:C4015108 ; oboInOwl:hasExactSynonym "EA8", "episodic ataxia, iia 8" ; rdfs:subClassOf OMIMPS:160120 ; + skos:exactMatch UMLS:C4015108 ; biolink:category biolink:Disease . OMIM:616056 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 26" ; IAO:0000142 PMID:25164438 ; - oboInOwl:hasDbXref UMLS:C4015119, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE26", "developmental and epileptic encephalopathy 26", "epileptic encephalopathy, early infantile, 26" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4015119, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:616059 a owl:Class ; rdfs:label "mirror movements 3" ; IAO:0000142 PMID:25098561 ; - oboInOwl:hasDbXref UMLS:C4015124 ; oboInOwl:hasExactSynonym "MRMV3", "mirror movements 3" ; rdfs:subClassOf OMIMPS:157600 ; + skos:exactMatch UMLS:C4015124 ; biolink:category biolink:Disease . OMIM:616060 a owl:Class ; @@ -456799,10 +473501,10 @@ OMIM:616060 a owl:Class ; PMID:8882867, PMID:8916304, PMID:9838931 ; - oboInOwl:hasDbXref UMLS:C1292294 ; oboInOwl:hasExactSynonym "DO", "blood group, dombrock system", "dombrock blood group system" ; + skos:exactMatch UMLS:C1292294 ; biolink:category biolink:Disease . OMIM:616063 a owl:Class ; @@ -456811,57 +473513,58 @@ OMIM:616063 a owl:Class ; PMID:22983302, PMID:25180256, PMID:9188872 ; - oboInOwl:hasDbXref UMLS:C4015128 ; oboInOwl:hasExactSynonym "POROK8", "porokeratosis 8, disseminated superficial actinic iia" ; rdfs:subClassOf OMIMPS:175800 ; + skos:exactMatch UMLS:C4015128 ; biolink:category biolink:Disease . OMIM:616080 a owl:Class ; rdfs:label "microcephaly 12, primary, autosomal recessive" ; IAO:0000142 PMID:23918663 ; - oboInOwl:hasDbXref UMLS:C4015156 ; oboInOwl:hasExactSynonym "MCPH12", "microcephaly 12, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4015156 ; biolink:category biolink:Disease . OMIM:616081 a owl:Class ; rdfs:label "pontocerebellar hypoplasia, iia 1c" ; IAO:0000142 PMID:24989451 ; - oboInOwl:hasDbXref UMLS:C4015160 ; oboInOwl:hasExactSynonym "PCH1C", "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia", "pontocerebellar hypoplasia, iia 1c" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C4015160 ; biolink:category biolink:Disease . OMIM:616083 a owl:Class ; - rdfs:label "mental retardation, autosomal dominant 30" ; + rdfs:label "intellectual developmental disorder, autosomal dominant 30" ; IAO:0000142 PMID:25217958 ; - oboInOwl:hasDbXref UMLS:C4015167 ; oboInOwl:hasExactSynonym "MRD30", + "intellectual developmental disorder, autosomal dominant 30", "mental retardation, autosomal dominant 30" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4015167 ; biolink:category biolink:Disease . OMIM:616084 a owl:Class ; rdfs:label "sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay" ; IAO:0000142 PMID:23553769, PMID:25193871 ; - oboInOwl:hasDbXref UMLS:C4015172 ; oboInOwl:hasExactSynonym "SIFD", "sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay" ; + skos:exactMatch UMLS:C4015172 ; biolink:category biolink:Disease . OMIM:616087 a owl:Class ; rdfs:label " iia 2 diabetes 5" ; IAO:0000142 PMID:23078342, PMID:25043022 ; - oboInOwl:hasDbXref UMLS:C4015183 ; oboInOwl:hasExactSynonym " iia 2 diabetes 5", "T2D5", "diabetes mellitus, noninsulin-dependent, 5" ; + skos:exactMatch UMLS:C4015183 ; biolink:category biolink:Disease . OMIM:616093 a owl:Class ; @@ -456885,45 +473588,45 @@ OMIM:616093 a owl:Class ; PMID:731066, PMID:746631, PMID:919419 ; - oboInOwl:hasDbXref UMLS:C0000778 ; oboInOwl:hasExactSynonym "abo blood group system", "blood group, abo system" ; + skos:exactMatch UMLS:C0000778 ; biolink:category biolink:Disease . OMIM:616095 a owl:Class ; rdfs:label "monocarboxylate transporter 1 deficiency" ; IAO:0000142 PMID:25390740 ; - oboInOwl:hasDbXref UMLS:C4015186 ; oboInOwl:hasExactSynonym "MCT1D", "monocarboxylate transporter 1 deficiency" ; + skos:exactMatch UMLS:C4015186 ; biolink:category biolink:Disease . OMIM:616099 a owl:Class ; rdfs:label "palmoplantar keratoderma and woolly hair" ; IAO:0000142 PMID:11874502, PMID:24671081 ; - oboInOwl:hasDbXref UMLS:C4015202 ; oboInOwl:hasExactSynonym "PPKWH", "palmoplantar keratoderma and woolly hair" ; + skos:exactMatch UMLS:C4015202 ; biolink:category biolink:Disease . OMIM:616106 a owl:Class ; rdfs:label "psoriasis 15, pustular, susceptibility to" ; IAO:0000142 PMID:24791904, PMID:28887889 ; - oboInOwl:hasDbXref UMLS:C4015235, - ORPHA:247353 ; oboInOwl:hasExactSynonym "PSORS15", "psoriasis 15, pustular, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C4015235, + ORPHA:247353 ; biolink:category biolink:Disease . OMIM:616108 a owl:Class ; rdfs:label "retinal dystrophy, juvenile cataracts, and short stature syndrome" ; IAO:0000142 PMID:24916380 ; - oboInOwl:hasDbXref UMLS:C4015242 ; oboInOwl:hasExactSynonym "RDJCSS", "retinal dystrophy, juvenile cataracts, and short stature syndrome" ; + skos:exactMatch UMLS:C4015242 ; biolink:category biolink:Disease . OMIM:616109 a owl:Class ; @@ -456934,8 +473637,6 @@ OMIM:616109 a owl:Class ; PMID:453198 ; RO:0002525 CHR:9606chr11q13.2 ; RO:0003303 OMIM:618432 ; - oboInOwl:hasDbXref UMLS:C1414700, - UMLS:C2240299 ; oboInOwl:hasExactSynonym "C11ORF80", "chromosome 11 open reading frame 80", "fragile site, folic acid type, rare, fra(11)(q13.3)", @@ -456944,27 +473645,30 @@ OMIM:616109 a owl:Class ; "topovib" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:79703 ; - skos:exactMatch HGNC_symbol:C11orf80 ; + skos:exactMatch UMLS:C1414700, + UMLS:C2240299, + HGNC:26197, + HGNC_symbol:C11orf80 ; biolink:category biolink:Gene . OMIM:616111 a owl:Class ; rdfs:label "mitochondrial complex 3 deficiency, nuclear iia 9" ; IAO:0000142 PMID:25008109 ; - oboInOwl:hasDbXref UMLS:C4015253 ; oboInOwl:hasExactSynonym "MC3DN9", "mitochondrial complex 3 deficiency, nuclear iia 9" ; rdfs:subClassOf OMIMPS:124000 ; + skos:exactMatch UMLS:C4015253 ; biolink:category biolink:Disease . OMIM:616116 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 46" ; IAO:0000142 PMID:21937992, PMID:25125150 ; - oboInOwl:hasDbXref UMLS:C4015283 ; oboInOwl:hasExactSynonym "MRT46", "intellectual developmental disorder, autosomal recessive 46", "mental retardation, autosomal recessive 46" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4015283 ; biolink:category biolink:Disease . OMIM:616117 a owl:Class ; @@ -456973,39 +473677,40 @@ OMIM:616117 a owl:Class ; PMID:25791106, PMID:29355681, PMID:30010057 ; - oboInOwl:hasDbXref UMLS:C4015285, - ORPHA:436242 ; oboInOwl:hasExactSynonym "CCDD", "cardiac conduction disease with or without dilated cardiomyopathy" ; + skos:exactMatch UMLS:C4015285, + ORPHA:436242 ; biolink:category biolink:Disease . OMIM:616118 a owl:Class ; rdfs:label "macular degeneration, early-onset" ; IAO:0000142 PMID:24899048 ; - oboInOwl:hasDbXref UMLS:C4015286 ; oboInOwl:hasExactSynonym "EOMD", "macular degeneration, early-onset" ; + skos:exactMatch UMLS:C4015286 ; biolink:category biolink:Disease . OMIM:616121 a owl:Class ; rdfs:label "gtpase, very large interferon-inducible, pseudogene 1" ; IAO:0000142 PMID:12874213 ; - oboInOwl:hasDbXref UMLS:C3889637 ; oboInOwl:hasExactSynonym "GVINP1", "gtpase, very large interferon-inducible, pseudogene 1", "very large inducible gtpase 1" ; - skos:exactMatch HGNC_symbol:GVINP1 . + skos:exactMatch UMLS:C3889637, + HGNC:25813, + HGNC_symbol:GVINP1 . OMIM:616126 a owl:Class ; rdfs:label "immunodeficiency 38 with basal ganglia calcification" ; IAO:0000142 PMID:22859821, PMID:25307056 ; - oboInOwl:hasDbXref UMLS:C4015293 ; oboInOwl:hasExactSynonym "IMD38", "immunodeficiency 38 with basal ganglia calcification", "immunodeficiency 38, mycobacteriosis, autosomal recessive", "isg15 deficiency, autosomal recessive" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4015293 ; biolink:category biolink:Disease . OMIM:616127 a owl:Class ; @@ -457014,29 +473719,29 @@ OMIM:616127 a owl:Class ; PMID:25361784, PMID:26197978, PMID:27016154 ; - oboInOwl:hasDbXref UMLS:C4015301 ; oboInOwl:hasExactSynonym "SCAR17", "spinocerebellar ataxia, autosomal recessive 17" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4015301 ; biolink:category biolink:Disease . OMIM:616140 a owl:Class ; rdfs:label "leukodystrophy, hypomyelinating, 9" ; IAO:0000142 PMID:24777941, PMID:28905880 ; - oboInOwl:hasDbXref UMLS:C4015323 ; oboInOwl:hasExactSynonym "HLD9", "leukodystrophy, hypomyelinating, 9" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C4015323 ; biolink:category biolink:Disease . OMIM:616154 a owl:Class ; rdfs:label "peroxisomal fatty acyl-coa reductase 1 disorder" ; IAO:0000142 PMID:25439727, PMID:26220973 ; - oboInOwl:hasDbXref UMLS:C4015344 ; oboInOwl:hasExactSynonym "PFCRD", "peroxisomal fatty acyl-coa reductase 1 disorder" ; + skos:exactMatch UMLS:C4015344 ; biolink:category biolink:Disease . OMIM:616158 a owl:Class ; @@ -457047,10 +473752,10 @@ OMIM:616158 a owl:Class ; PMID:25439098, PMID:25533962, PMID:27148565 ; - oboInOwl:hasDbXref UMLS:C4015357 ; oboInOwl:hasExactSynonym "NEDRIHF", "mental retardation, autosomal dominant 31, formerly", "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" ; + skos:exactMatch UMLS:C4015357 ; biolink:category biolink:Disease . OMIM:616165 a owl:Class ; @@ -457058,38 +473763,38 @@ OMIM:616165 a owl:Class ; IAO:0000142 PMID:25250574, PMID:28815944, PMID:30291184 ; - oboInOwl:hasDbXref UMLS:C4015360 ; oboInOwl:hasExactSynonym "NEM10", "nemaline myopathy 10" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C4015360 ; biolink:category biolink:Disease . OMIM:616166 a owl:Class ; rdfs:label "aortic aneurysm, familial thoracic 9" ; IAO:0000142 PMID:25434006 ; - oboInOwl:hasDbXref UMLS:C4015368 ; oboInOwl:hasExactSynonym "AAT9", "aortic aneurysm, familial thoracic 9", "aortic aneurysm, thoracic, with or without aortic dissection" ; rdfs:subClassOf OMIMPS:607086 ; + skos:exactMatch UMLS:C4015368 ; biolink:category biolink:Disease . OMIM:616170 a owl:Class ; rdfs:label "macular dystrophy with central cone involvement" ; IAO:0000142 PMID:25227500 ; - oboInOwl:hasDbXref UMLS:C4015371 ; oboInOwl:hasExactSynonym "CCMD", "macular dystrophy with central cone involvement" ; + skos:exactMatch UMLS:C4015371 ; biolink:category biolink:Disease . OMIM:616171 a owl:Class ; rdfs:label "microcephaly and chorioretinopathy, autosomal recessive, 2" ; IAO:0000142 PMID:25320347, PMID:25344692 ; - oboInOwl:hasDbXref UMLS:C4015388 ; oboInOwl:hasExactSynonym "MCCRP2", "microcephaly and chorioretinopathy, autosomal recessive, 2" ; rdfs:subClassOf OMIMPS:251270 ; + skos:exactMatch UMLS:C4015388 ; biolink:category biolink:Disease . OMIM:616172 a owl:Class ; @@ -457097,20 +473802,20 @@ OMIM:616172 a owl:Class ; IAO:0000142 PMID:11591834, PMID:18479394, PMID:25362483 ; - oboInOwl:hasDbXref UMLS:C4015395 ; oboInOwl:hasExactSynonym "GEFSP9", "gefs+, iia 9", "generalized epilepsy with febrile seizures plus, iia 9" ; rdfs:subClassOf OMIMPS:604233 ; + skos:exactMatch UMLS:C4015395 ; biolink:category biolink:Disease . OMIM:616176 a owl:Class ; rdfs:label "bleeding disorder, platelet-type, 19" ; IAO:0000142 PMID:25061177 ; - oboInOwl:hasDbXref UMLS:C4015405 ; oboInOwl:hasExactSynonym "BDPLT19", "bleeding disorder, platelet-type, 19" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C4015405 ; biolink:category biolink:Disease . OMIM:616182 a owl:Class ; @@ -457118,100 +473823,100 @@ OMIM:616182 a owl:Class ; IAO:0000142 PMID:23954164, PMID:27821551 ; RO:0002525 CHR:9606chr12q13 ; - oboInOwl:hasDbXref UMLS:C0274294 ; oboInOwl:hasExactSynonym "chronic mountain sickness, susceptibility to", "monge disease" ; + skos:exactMatch UMLS:C0274294 ; biolink:category biolink:Disease . OMIM:616185 a owl:Class ; rdfs:label "ovarian dysgenesis 4" ; IAO:0000142 PMID:25480036, PMID:26771056 ; - oboInOwl:hasDbXref UMLS:C4015409 ; oboInOwl:hasExactSynonym "ODG4", "ovarian dysgenesis 4" ; rdfs:subClassOf OMIMPS:233300 ; + skos:exactMatch UMLS:C4015409 ; biolink:category biolink:Disease . OMIM:616187 a owl:Class ; rdfs:label "epilepsy, progressive myoclonic 7" ; IAO:0000142 PMID:25401298 ; - oboInOwl:hasDbXref UMLS:C4015420 ; oboInOwl:hasExactSynonym "EPM7", "epilepsy, progressive myoclonic 7" ; rdfs:subClassOf OMIMPS:254800 ; + skos:exactMatch UMLS:C4015420 ; biolink:category biolink:Disease . OMIM:616188 a owl:Class ; rdfs:label "retinal dystrophy and obesity" ; IAO:0000142 PMID:24375934 ; - oboInOwl:hasDbXref UMLS:C4015424 ; oboInOwl:hasExactSynonym "RDOB", "retinal dystrophy and obesity" ; + skos:exactMatch UMLS:C4015424 ; biolink:category biolink:Disease . OMIM:616192 a owl:Class ; rdfs:label "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" ; IAO:0000142 PMID:15793246, PMID:25466870 ; - oboInOwl:hasDbXref UMLS:C4015436 ; oboInOwl:hasExactSynonym "ACPHD", "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" ; + skos:exactMatch UMLS:C4015436 ; biolink:category biolink:Disease . OMIM:616193 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 47" ; IAO:0000142 PMID:25480035 ; - oboInOwl:hasDbXref UMLS:C4015444 ; oboInOwl:hasExactSynonym "MRT47", "intellectual developmental disorder, autosomal recessive 47", "mental retardation, autosomal recessive 47" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4015444 ; biolink:category biolink:Disease . OMIM:616198 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 23" ; IAO:0000142 PMID:25434004 ; - oboInOwl:hasDbXref UMLS:C4015447 ; oboInOwl:hasExactSynonym "COXPD23", "combined oxidative phosphorylation deficiency 23" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4015447 ; biolink:category biolink:Disease . OMIM:616199 a owl:Class ; rdfs:label "polyglucosan body myopathy 2" ; IAO:0000142 PMID:17106730, PMID:25272951 ; - oboInOwl:hasDbXref UMLS:C4015452 ; oboInOwl:hasExactSynonym "PGBM2", "polyglucosan body myopathy 2" ; rdfs:subClassOf OMIMPS:615895 ; + skos:exactMatch UMLS:C4015452 ; biolink:category biolink:Disease . OMIM:616200 a owl:Class ; rdfs:label "ruijs-aalfs syndrome" ; IAO:0000142 PMID:12503110, PMID:25261934 ; - oboInOwl:hasDbXref UMLS:C4015461 ; oboInOwl:hasExactSynonym "RJALS", "ruijs-aalfs syndrome" ; + skos:exactMatch UMLS:C4015461 ; biolink:category biolink:Disease . OMIM:616201 a owl:Class ; rdfs:label "chronic atrial and intestinal dysrhythmia" ; IAO:0000142 PMID:25282101 ; - oboInOwl:hasDbXref UMLS:C4015474 ; oboInOwl:hasExactSynonym "CAID", "chronic atrial and intestinal dysrhythmia" ; + skos:exactMatch UMLS:C4015474 ; biolink:category biolink:Disease . OMIM:616202 a owl:Class ; rdfs:label "cerebellofaciodental syndrome" ; IAO:0000142 PMID:25561519 ; - oboInOwl:hasDbXref UMLS:C4015495 ; oboInOwl:hasExactSynonym "CFDS", "cerebellar-facial-dental syndrome", "cerebellofaciodental syndrome" ; + skos:exactMatch UMLS:C4015495 ; biolink:category biolink:Disease . OMIM:616204 a owl:Class ; @@ -457220,60 +473925,60 @@ OMIM:616204 a owl:Class ; PMID:24078737, PMID:7736576, PMID:9628817 ; - oboInOwl:hasDbXref UMLS:C4015505 ; oboInOwl:hasExactSynonym "SCAR18", "spinocerebellar ataxia, autosomal recessive 18" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4015505 ; biolink:category biolink:Disease . OMIM:616208 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" ; IAO:0000142 PMID:25374358 ; - oboInOwl:hasDbXref UMLS:C4015512 ; oboInOwl:hasExactSynonym "ALS22", "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C4015512 ; biolink:category biolink:Disease . OMIM:616212 a owl:Class ; rdfs:label "lissencephaly 6 with microcephaly" ; IAO:0000142 PMID:25521378, PMID:25521379 ; - oboInOwl:hasDbXref UMLS:C4015525 ; oboInOwl:hasExactSynonym "LIS6", "lissencephaly 6 with microcephaly" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C4015525 ; biolink:category biolink:Disease . OMIM:616216 a owl:Class ; rdfs:label "thrombocytopenia 5" ; IAO:0000142 PMID:25581430, PMID:25807284 ; - oboInOwl:hasDbXref UMLS:C4015537 ; oboInOwl:hasExactSynonym "THC5", "thrombocytopenia 5", "thrombocytopenia 5 with increased susceptibility to malignancy", "thrombocytopenia, autosomal dominant, 5" ; rdfs:subClassOf OMIMPS:313900 ; + skos:exactMatch UMLS:C4015537 ; biolink:category biolink:Disease . OMIM:616219 a owl:Class ; rdfs:label "fibrosis of extraocular muscles, congenital, 5" ; IAO:0000142 PMID:25500261 ; - oboInOwl:hasDbXref UMLS:C4015552 ; oboInOwl:hasExactSynonym "CFEOM5", "fibrosis of extraocular muscles, congenital, 5" ; rdfs:subClassOf OMIMPS:135700 ; + skos:exactMatch UMLS:C4015552 ; biolink:category biolink:Disease . OMIM:616221 a owl:Class ; rdfs:label "amelogenesis imperfecta, iia 1h" ; IAO:0000142 PMID:24305999, PMID:24319098 ; - oboInOwl:hasDbXref UMLS:C4015557 ; oboInOwl:hasExactSynonym "AI1H", "amelogenesis imperfecta, iia 1h" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C4015557 ; biolink:category biolink:Disease . OMIM:616224 a owl:Class ; @@ -457282,23 +473987,23 @@ OMIM:616224 a owl:Class ; PMID:24586561, PMID:24610330, PMID:28726805 ; - oboInOwl:hasDbXref UMLS:C4479088 ; oboInOwl:hasExactSynonym "CMS22", "myasthenic syndrome, congenital, 22", "prepl deficiency" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4479088 ; biolink:category biolink:Disease . OMIM:616228 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 14" ; IAO:0000142 PMID:23404334, PMID:24461433 ; - oboInOwl:hasDbXref UMLS:C4015597 ; oboInOwl:hasExactSynonym "CMS14", "myasthenic syndrome, congenital, 14", "myasthenic syndrome, congenital, with tubular aggregates 3" ; rdfs:subClassOf OMIMPS:601462, OMIMPS:610542 ; + skos:exactMatch UMLS:C4015597 ; biolink:category biolink:Disease . OMIM:616229 a owl:Class ; @@ -457307,14 +474012,14 @@ OMIM:616229 a owl:Class ; PMID:28817112, PMID:29936144, PMID:30657919 ; - oboInOwl:hasDbXref UMLS:C4015610, - ORPHA:216812, - ORPHA:666 ; oboInOwl:hasExactSynonym "OI16", "chromosome 11p11.2 deletion syndrome, 91.3-kb", "oi, iia 16", "osteogenesis imperfecta, iia 16" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C4015610, + ORPHA:216812, + ORPHA:666 ; biolink:category biolink:Disease . OMIM:616230 a owl:Class ; @@ -457322,10 +474027,10 @@ OMIM:616230 a owl:Class ; IAO:0000142 PMID:19243074, PMID:21625621, PMID:24782409 ; - oboInOwl:hasDbXref UMLS:C4015619 ; oboInOwl:hasExactSynonym "EPM8", "epilepsy, progressive myoclonic, 8" ; rdfs:subClassOf OMIMPS:254800 ; + skos:exactMatch UMLS:C4015619 ; biolink:category biolink:Disease . OMIM:616231 a owl:Class ; @@ -457333,9 +474038,9 @@ OMIM:616231 a owl:Class ; IAO:0000142 PMID:16714317, PMID:25116801, PMID:26136523 ; - oboInOwl:hasDbXref UMLS:C4015624 ; oboInOwl:hasExactSynonym "VMCQA", "myopathy, vacuolar, with casq1 aggregates" ; + skos:exactMatch UMLS:C4015624 ; biolink:category biolink:Disease . OMIM:616239 a owl:Class ; @@ -457348,19 +474053,19 @@ OMIM:616239 a owl:Class ; PMID:30327238, PMID:30583950, PMID:30686630 ; - oboInOwl:hasDbXref UMLS:C4015643 ; oboInOwl:hasExactSynonym "COXPD24", "combined oxidative phosphorylation deficiency 24" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4015643 ; biolink:category biolink:Disease . OMIM:616248 a owl:Class ; rdfs:label "lethal congenital contracture syndrome 6" ; IAO:0000142 PMID:25055871 ; - oboInOwl:hasDbXref UMLS:C4015686 ; oboInOwl:hasExactSynonym "LCCS6", "lethal congenital contracture syndrome 6" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C4015686 ; biolink:category biolink:Disease . OMIM:616249 a owl:Class ; @@ -457371,12 +474076,12 @@ OMIM:616249 a owl:Class ; PMID:26969752, PMID:27765793, PMID:31170290 ; - oboInOwl:hasDbXref UMLS:C4015695, - ORPHA:101016, - ORPHA:768 ; oboInOwl:hasExactSynonym "LQT15", "long qt syndrome 15" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C4015695, + ORPHA:101016, + ORPHA:768 ; biolink:category biolink:Disease . OMIM:616255 a owl:Class ; @@ -457384,18 +474089,18 @@ OMIM:616255 a owl:Class ; IAO:0000142 PMID:16384845, PMID:24001744, PMID:24471569 ; - oboInOwl:hasDbXref UMLS:C4225399 ; oboInOwl:hasExactSynonym "SNSK", "short stature with nonspecific skeletal abnormalities" ; + skos:exactMatch UMLS:C4225399 ; biolink:category biolink:Disease . OMIM:616260 a owl:Class ; rdfs:label "tenorio syndrome" ; IAO:0000142 PMID:25196541 ; - oboInOwl:hasDbXref UMLS:C4015710 ; oboInOwl:hasExactSynonym "TNORS", "overgrowth, macrocephaly, and intellectual disability syndrome", "tenorio syndrome" ; + skos:exactMatch UMLS:C4015710 ; biolink:category biolink:Disease . OMIM:616263 a owl:Class ; @@ -457406,20 +474111,20 @@ OMIM:616263 a owl:Class ; PMID:27129381, PMID:28328138, PMID:31057140 ; - oboInOwl:hasDbXref UMLS:C4015728 ; oboInOwl:hasExactSynonym "IMNEPD1", "imnepd", "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1" ; rdfs:subClassOf OMIMPS:616263 ; + skos:exactMatch UMLS:C4015728 ; biolink:category biolink:Disease . OMIM:616265 a owl:Class ; rdfs:label "peeling skin syndrome 3" ; IAO:0000142 PMID:22289416 ; - oboInOwl:hasDbXref UMLS:C4015729 ; oboInOwl:hasExactSynonym "PSS3", "peeling skin syndrome 3" ; rdfs:subClassOf OMIMPS:270300 ; + skos:exactMatch UMLS:C4015729 ; biolink:category biolink:Disease . OMIM:616268 a owl:Class ; @@ -457429,32 +474134,32 @@ OMIM:616268 a owl:Class ; PMID:27133397, PMID:30245513, PMID:33318932 ; - oboInOwl:hasDbXref UMLS:C4225396, - ORPHA:457193 ; oboInOwl:hasExactSynonym "ARTHS", "arboleda-tham syndrome", "kat6a syndrome", "mental retardation, autosomal dominant 32, formerly" ; + skos:exactMatch UMLS:C4225396, + ORPHA:457193 ; biolink:category biolink:Disease . OMIM:616269 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 48" ; IAO:0000142 PMID:25704603 ; - oboInOwl:hasDbXref UMLS:C4225395 ; oboInOwl:hasExactSynonym "MRT48", "intellectual developmental disorder, autosomal recessive 48" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4225395 ; biolink:category biolink:Disease . OMIM:616270 a owl:Class ; rdfs:label "amelogenesis imperfecta, iia 1f" ; IAO:0000142 PMID:24858907, PMID:26502894 ; - oboInOwl:hasDbXref UMLS:C4225394 ; oboInOwl:hasExactSynonym "AI1F", "amelogenesis imperfecta, iia 1f", "amelogenesis imperfecta, hypoplastic iia 1f" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C4225394 ; biolink:category biolink:Disease . OMIM:616276 a owl:Class ; @@ -457462,10 +474167,10 @@ OMIM:616276 a owl:Class ; IAO:0000142 PMID:22368301, PMID:25658047, PMID:26185144 ; - oboInOwl:hasDbXref UMLS:C4225392 ; oboInOwl:hasExactSynonym "COQ10D7", "coenzyme Q10 deficiency, primary, 7" ; rdfs:subClassOf OMIMPS:607426 ; + skos:exactMatch UMLS:C4225392 ; biolink:category biolink:Disease . OMIM:616277 a owl:Class ; @@ -457476,19 +474181,19 @@ OMIM:616277 a owl:Class ; PMID:26099313, PMID:26251176, PMID:29575569 ; - oboInOwl:hasDbXref UMLS:C4225391, - ORPHA:255241 ; oboInOwl:hasExactSynonym "ECHS1D", "mitochondrial short-chain enoyl-coa hydratase 1 deficiency" ; + skos:exactMatch UMLS:C4225391, + ORPHA:255241 ; biolink:category biolink:Disease . OMIM:616278 a owl:Class ; rdfs:label "bile acid synthesis defect, congenital, 5" ; IAO:0000142 PMID:25168382 ; - oboInOwl:hasDbXref UMLS:C4225390 ; oboInOwl:hasExactSynonym "CBAS5", "bile acid synthesis defect, congenital, 5" ; rdfs:subClassOf OMIMPS:607765 ; + skos:exactMatch UMLS:C4225390 ; biolink:category biolink:Disease . OMIM:616281 a owl:Class ; @@ -457499,32 +474204,32 @@ OMIM:616281 a owl:Class ; PMID:29226631, PMID:29882329, PMID:31471722 ; - oboInOwl:hasDbXref UMLS:C4225388, - ORPHA:477673 ; oboInOwl:hasExactSynonym "NEDSPM", "mental retardation, autosomal recessive 49, formerly", "neurodevelopmental disorder with spastic paraplegia and microcephaly" ; + skos:exactMatch UMLS:C4225388, + ORPHA:477673 ; biolink:category biolink:Disease . OMIM:616282 a owl:Class ; rdfs:label "spastic paraplegia 73, autosomal dominant" ; IAO:0000142 PMID:23973755, PMID:25751282 ; - oboInOwl:hasDbXref UMLS:C4225387, - ORPHA:444099 ; oboInOwl:hasExactSynonym "SPG73", "spastic paraplegia 73, autosomal dominant" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C4225387, + ORPHA:444099 ; biolink:category biolink:Disease . OMIM:616286 a owl:Class ; rdfs:label "lethal congenital contracture syndrome 7" ; IAO:0000142 PMID:24319099, PMID:28254648 ; - oboInOwl:hasDbXref UMLS:C4225386 ; oboInOwl:hasExactSynonym "LCCS7", "lethal congenital contracture syndrome 7" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C4225386 ; biolink:category biolink:Disease . OMIM:616287 a owl:Class ; @@ -457532,10 +474237,10 @@ OMIM:616287 a owl:Class ; IAO:0000142 PMID:24319099, PMID:26257172, PMID:31846058 ; - oboInOwl:hasDbXref UMLS:C4225385 ; oboInOwl:hasExactSynonym "LCCS8", "lethal congenital contracture syndrome 8" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C4225385 ; biolink:category biolink:Disease . OMIM:616291 a owl:Class ; @@ -457545,12 +474250,12 @@ OMIM:616291 a owl:Class ; PMID:30018422, PMID:3465984, PMID:3739762 ; - oboInOwl:hasDbXref UMLS:C4225383, - ORPHA:448251 ; oboInOwl:hasExactSynonym "LIKNS", "lichtenstein-knorr syndrome", "spinocerebellar ataxia, autosomal recessive 19" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4225383, + ORPHA:448251 ; biolink:category biolink:Disease . OMIM:616294 a owl:Class ; @@ -457559,60 +474264,60 @@ OMIM:616294 a owl:Class ; PMID:26467156, PMID:27942778, PMID:30462379 ; - oboInOwl:hasDbXref UMLS:C4225382, - ORPHA:2050 ; oboInOwl:hasExactSynonym "CLCRP2", "cole-carpenter syndrome 2" ; rdfs:subClassOf OMIMPS:112240 ; + skos:exactMatch UMLS:C4225382, + ORPHA:2050 ; biolink:category biolink:Disease . OMIM:616295 a owl:Class ; rdfs:label "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" ; IAO:0000142 PMID:25683118, PMID:3527073 ; - oboInOwl:hasDbXref UMLS:C4225381 ; oboInOwl:hasExactSynonym "PLACK", "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" ; + skos:exactMatch UMLS:C4225381 ; biolink:category biolink:Disease . OMIM:616298 a owl:Class ; rdfs:label "singleton-merten syndrome 2" ; IAO:0000142 PMID:25620203 ; - oboInOwl:hasDbXref UMLS:C4225380, - ORPHA:85191 ; oboInOwl:hasExactSynonym "SGMRT2", "singleton-merten syndrome 2" ; rdfs:subClassOf OMIMPS:182250 ; + skos:exactMatch UMLS:C4225380, + ORPHA:85191 ; biolink:category biolink:Disease . OMIM:616299 a owl:Class ; rdfs:label "lipoyltransferase 1 deficiency" ; IAO:0000142 PMID:24256811, PMID:24341803 ; - oboInOwl:hasDbXref UMLS:C4225379, - ORPHA:401862 ; oboInOwl:hasExactSynonym "LIPT1D", "lipoyltransferase 1 deficiency" ; + skos:exactMatch UMLS:C4225379, + ORPHA:401862 ; biolink:category biolink:Disease . OMIM:616300 a owl:Class ; rdfs:label "short-rib thoracic dysplasia 13 with or without polydactyly" ; IAO:0000142 PMID:25361962, PMID:27208211 ; - oboInOwl:hasDbXref UMLS:C4225378 ; oboInOwl:hasExactSynonym "SRTD13", "short-rib thoracic dysplasia 13 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C4225378 ; biolink:category biolink:Disease . OMIM:616307 a owl:Class ; rdfs:label "senior-loken syndrome 8" ; IAO:0000142 PMID:23559409, PMID:23683095 ; - oboInOwl:hasDbXref UMLS:C4225376 ; oboInOwl:hasExactSynonym "SLSN8", "senior-loken syndrome 8" ; rdfs:subClassOf OMIMPS:266900 ; + skos:exactMatch UMLS:C4225376 ; biolink:category biolink:Disease . OMIM:616313 a owl:Class ; @@ -457620,10 +474325,10 @@ OMIM:616313 a owl:Class ; IAO:0000142 PMID:25792100, PMID:8651643, PMID:8872460 ; - oboInOwl:hasDbXref UMLS:C4225374 ; oboInOwl:hasExactSynonym "CMS2A", "myasthenic syndrome, congenital, 2a, slow-channel" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225374 ; biolink:category biolink:Disease . OMIM:616322 a owl:Class ; @@ -457633,12 +474338,12 @@ OMIM:616322 a owl:Class ; PMID:14592870, PMID:18398509, PMID:25792100 ; - oboInOwl:hasDbXref UMLS:C4225371, - ORPHA:590, - ORPHA:98913 ; oboInOwl:hasExactSynonym "CMS3B", "myasthenic syndrome, congenital, 3b, fast-channel" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225371, + ORPHA:590, + ORPHA:98913 ; biolink:category biolink:Disease . OMIM:616325 a owl:Class ; @@ -457647,10 +474352,10 @@ OMIM:616325 a owl:Class ; PMID:19949040, PMID:20371544, PMID:25792100 ; - oboInOwl:hasDbXref UMLS:C4225368 ; oboInOwl:hasExactSynonym "CMS9", "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225368 ; biolink:category biolink:Disease . OMIM:616326 a owl:Class ; @@ -457666,22 +474371,22 @@ OMIM:616326 a owl:Class ; PMID:25792100, PMID:7573153, PMID:9813454 ; - oboInOwl:hasDbXref UMLS:C4225367 ; oboInOwl:hasExactSynonym "CMS11", "cms ie, formerly", "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency", "myasthenic syndrome, congenital, ie, formerly" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225367 ; biolink:category biolink:Disease . OMIM:616330 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 18" ; IAO:0000142 PMID:25381298 ; - oboInOwl:hasDbXref UMLS:C4225364 ; oboInOwl:hasExactSynonym "CMS18", "myasthenic syndrome, congenital, 18", "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225364 ; biolink:category biolink:Disease . OMIM:616331 a owl:Class ; @@ -457692,63 +474397,63 @@ OMIM:616331 a owl:Class ; PMID:25817014, PMID:25817016, PMID:26924530 ; - oboInOwl:hasDbXref UMLS:C4225363 ; oboInOwl:hasExactSynonym "DRS2", "robinow syndrome, autosomal dominant 2" ; rdfs:subClassOf OMIMPS:268310 ; + skos:exactMatch UMLS:C4225363 ; biolink:category biolink:Disease . OMIM:616335 a owl:Class ; rdfs:label "microcephaly and chorioretinopathy, autosomal recessive, 3" ; IAO:0000142 PMID:25817018 ; - oboInOwl:hasDbXref UMLS:C4225362 ; oboInOwl:hasExactSynonym "MCCRP3", "microcephaly and chorioretinopathy, autosomal recessive, 3" ; rdfs:subClassOf OMIMPS:251270 ; + skos:exactMatch UMLS:C4225362 ; biolink:category biolink:Disease . OMIM:616340 a owl:Class ; rdfs:label "deafness, autosomal dominant 67" ; IAO:0000142 PMID:25077649, PMID:25759012 ; - oboInOwl:hasDbXref UMLS:C4084712, - ORPHA:90635 ; oboInOwl:hasExactSynonym "DFNA67", "deafness, autosomal dominant 67" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4084712, + ORPHA:90635 ; biolink:category biolink:Disease . OMIM:616341 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 30" ; IAO:0000142 PMID:25839329 ; - oboInOwl:hasDbXref UMLS:C4225360, - ORPHA:1934, - ORPHA:1935, - ORPHA:3451 ; oboInOwl:hasExactSynonym "DEE30", "developmental and epileptic encephalopathy 30", "epileptic encephalopathy, early infantile, 30" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4225360, + ORPHA:1934, + ORPHA:1935, + ORPHA:3451 ; biolink:category biolink:Disease . OMIM:616342 a owl:Class ; rdfs:label "lissencephaly 7 with cerebellar hypoplasia" ; IAO:0000142 PMID:15067135, PMID:25560765 ; - oboInOwl:hasDbXref UMLS:C4225359 ; oboInOwl:hasExactSynonym "LIS7", "lissencephaly 7 with cerebellar hypoplasia" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C4225359 ; biolink:category biolink:Disease . OMIM:616345 a owl:Class ; rdfs:label "immunodeficiency 39" ; IAO:0000142 PMID:15800576, PMID:25814066 ; - oboInOwl:hasDbXref UMLS:C4225358 ; oboInOwl:hasExactSynonym "IMD39", "immunodeficiency 39" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4225358 ; biolink:category biolink:Disease . OMIM:616346 a owl:Class ; @@ -457756,23 +474461,23 @@ OMIM:616346 a owl:Class ; IAO:0000142 PMID:20700442, PMID:25262651, PMID:25533962 ; - oboInOwl:hasDbXref UMLS:C4225357, - ORPHA:2382, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE31", "developmental and epileptic encephalopathy 31", "epileptic encephalopathy, early infantile, 31" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4225357, + ORPHA:2382, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:616351 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 34" ; IAO:0000142 PMID:25533962 ; - oboInOwl:hasDbXref UMLS:C4225156 ; oboInOwl:hasExactSynonym "MRD34", "intellectual developmental disorder, autosomal dominant 34", "mental retardation, autosomal dominant 34" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4225156 ; biolink:category biolink:Disease . OMIM:616354 a owl:Class ; @@ -457781,31 +474486,32 @@ OMIM:616354 a owl:Class ; PMID:25439728, PMID:25848753, PMID:27913285 ; - oboInOwl:hasDbXref UMLS:C4225355, - ORPHA:397709 ; oboInOwl:hasExactSynonym "SCAR20", "spinocerebellar ataxia, autosomal recessive 20" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4225355, + ORPHA:397709 ; biolink:category biolink:Disease . OMIM:616355 a owl:Class ; - rdfs:label "mental retardation, autosomal dominant 35" ; + rdfs:label "intellectual developmental disorder, autosomal dominant 35" ; IAO:0000142 PMID:25533962, PMID:25972378, PMID:26168268 ; - oboInOwl:hasDbXref UMLS:C4225354 ; oboInOwl:hasExactSynonym "MRD35", + "intellectual developmental disorder, autosomal dominant 35", "mental retardation, autosomal dominant 35" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4225354 ; biolink:category biolink:Disease . OMIM:616357 a owl:Class ; rdfs:label "deafness, autosomal dominant 40" ; IAO:0000142 PMID:12471561 ; - oboInOwl:hasDbXref UMLS:C4084708 ; oboInOwl:hasExactSynonym "DFNA40", "deafness, autosomal dominant 40" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4084708 ; biolink:category biolink:Disease . OMIM:616361 a owl:Class ; @@ -457814,20 +474520,21 @@ OMIM:616361 a owl:Class ; PMID:25186792, PMID:27270108 ; RO:0002525 CHR:9606chr3q22 ; - oboInOwl:hasDbXref UMLS:C4225353 ; oboInOwl:hasExactSynonym "PARK21", "parkinson disease 21" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C4225353 ; biolink:category biolink:Disease . OMIM:616362 a owl:Class ; - rdfs:label "mental retardation, autosomal dominant 36" ; + rdfs:label "intellectual developmental disorder, autosomal dominant 36" ; IAO:0000142 PMID:25533962, PMID:26168268 ; - oboInOwl:hasDbXref UMLS:C4225352 ; oboInOwl:hasExactSynonym "MRD36", + "intellectual developmental disorder, autosomal dominant 36", "mental retardation, autosomal dominant 36" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4225352 ; biolink:category biolink:Disease . OMIM:616364 a owl:Class ; @@ -457839,11 +474546,11 @@ OMIM:616364 a owl:Class ; PMID:26739615, PMID:26763879, PMID:26942287 ; - oboInOwl:hasDbXref UMLS:C4225351 ; oboInOwl:hasExactSynonym "WHSUS", "mental retardation, autosomal dominant 37", "white-sutton syndrome" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4225351 ; biolink:category biolink:Disease . OMIM:616366 a owl:Class ; @@ -457851,21 +474558,21 @@ OMIM:616366 a owl:Class ; IAO:0000142 PMID:20696761, PMID:25477152, PMID:25751627 ; - oboInOwl:hasDbXref UMLS:C4225350, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE32", "developmental and epileptic encephalopathy 32", "epileptic encephalopathy, early infantile, 32" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4225350, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:616368 a owl:Class ; rdfs:label "chops syndrome" ; IAO:0000142 PMID:25730767 ; - oboInOwl:hasDbXref UMLS:C4085597 ; oboInOwl:hasExactSynonym "CHOPS", "chops syndrome", "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" ; + skos:exactMatch UMLS:C4085597 ; biolink:category biolink:Disease . OMIM:616370 a owl:Class ; @@ -457874,19 +474581,19 @@ OMIM:616370 a owl:Class ; PMID:29122497, PMID:29297947, PMID:29359243 ; - oboInOwl:hasDbXref UMLS:C4225348 ; oboInOwl:hasExactSynonym "MMDS4", "multiple mitochondrial dysfunctions syndrome 4" ; rdfs:subClassOf OMIMPS:605711 ; + skos:exactMatch UMLS:C4225348 ; biolink:category biolink:Disease . OMIM:616371 a owl:Class ; rdfs:label "pulmonary fibrosis and/or bone marrow failure, telomere-related, 4" ; IAO:0000142 PMID:25848748 ; - oboInOwl:hasDbXref UMLS:C4225347 ; oboInOwl:hasExactSynonym "PFBMFT4", "pulmonary fibrosis and/or bone marrow failure, telomere-related, 4" ; rdfs:subClassOf OMIMPS:614742 ; + skos:exactMatch UMLS:C4225347 ; biolink:category biolink:Disease . OMIM:616373 a owl:Class ; @@ -457895,43 +474602,44 @@ OMIM:616373 a owl:Class ; PMID:23959892, PMID:25607374, PMID:25848748 ; - oboInOwl:hasDbXref UMLS:C4225346 ; oboInOwl:hasExactSynonym "PFBMFT3", "pulmonary fibrosis and/or bone marrow failure, telomere-related, 3" ; rdfs:subClassOf OMIMPS:614742 ; + skos:exactMatch UMLS:C4225346 ; biolink:category biolink:Disease . OMIM:616389 a owl:Class ; rdfs:label "night blindness, congenital stationary, iia 1g" ; IAO:0000142 PMID:22190596, PMID:26472407 ; - oboInOwl:hasDbXref UMLS:C4225345 ; oboInOwl:hasExactSynonym "CSNB1G", "night blindness, congenital stationary, iia 1g" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C4225345 ; biolink:category biolink:Disease . OMIM:616392 a owl:Class ; rdfs:label "skint1-like pseudogene" ; IAO:0000142 PMID:21300860, PMID:25830554 ; - oboInOwl:hasDbXref UMLS:C4085348 ; oboInOwl:hasExactSynonym "SKINTL", "skint1-like pseudogene", "skint1l", "skintp" ; - skos:exactMatch HGNC_symbol:SKINT1L . + skos:exactMatch UMLS:C4085348, + HGNC:33993, + HGNC_symbol:SKINT1L . OMIM:616393 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 38" ; IAO:0000142 PMID:24697219 ; - oboInOwl:hasDbXref UMLS:C4225343, - ORPHA:178469 ; oboInOwl:hasExactSynonym "MRD38", "intellectual developmental disorder, autosomal dominant 38", "mental retardation, autosomal dominant 38", "psychomotor retardation, epilepsy, and language disability syndrome" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4225343, + ORPHA:178469 ; biolink:category biolink:Disease . OMIM:616395 a owl:Class ; @@ -457946,32 +474654,32 @@ OMIM:616395 a owl:Class ; PMID:7082576, PMID:7517009, PMID:8213812 ; - oboInOwl:hasDbXref UMLS:C4017171, - ORPHA:33364 ; oboInOwl:hasExactSynonym "TTD3", "trichothiodystrophy 3, photosensitive", "trichothiodystrophy, complementation group a" ; rdfs:subClassOf OMIMPS:601675 ; + skos:exactMatch UMLS:C4017171, + ORPHA:33364 ; biolink:category biolink:Disease . OMIM:616398 a owl:Class ; rdfs:label "dystonia 26, myoclonic" ; IAO:0000142 PMID:25983243 ; - oboInOwl:hasDbXref UMLS:C4225341 ; oboInOwl:hasExactSynonym "DYT26", "dystonia 26, myoclonic" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C4225341 ; biolink:category biolink:Disease . OMIM:616402 a owl:Class ; rdfs:label "microcephaly 14, primary, autosomal recessive" ; IAO:0000142 PMID:24951542, PMID:30639237 ; - oboInOwl:hasDbXref UMLS:C4225338, - ORPHA:2512 ; oboInOwl:hasExactSynonym "MCPH14", "microcephaly 14, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4225338, + ORPHA:2512 ; biolink:category biolink:Disease . OMIM:616410 a owl:Class ; @@ -457979,10 +474687,10 @@ OMIM:616410 a owl:Class ; IAO:0000142 PMID:19351902, PMID:21321808, PMID:25477146 ; - oboInOwl:hasDbXref UMLS:C4225158 ; oboInOwl:hasExactSynonym "SCA41", "spinocerebellar ataxia 41" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C4225158 ; biolink:category biolink:Disease . OMIM:616413 a owl:Class ; @@ -457991,102 +474699,102 @@ OMIM:616413 a owl:Class ; PMID:25938945, PMID:4795427, PMID:886353 ; - oboInOwl:hasDbXref UMLS:C4225335 ; oboInOwl:hasExactSynonym "IBGC6", "basal ganglia calcification, idiopathic, 6" ; rdfs:subClassOf OMIMPS:213600 ; + skos:exactMatch UMLS:C4225335 ; biolink:category biolink:Disease . OMIM:616414 a owl:Class ; rdfs:label "autoimmune interstitial lung, joint, and kidney disease" ; IAO:0000142 PMID:25894502 ; - oboInOwl:hasDbXref UMLS:C4225334 ; oboInOwl:hasExactSynonym "AILJK", "autoimmune interstitial lung, joint, and kidney disease" ; + skos:exactMatch UMLS:C4225334 ; biolink:category biolink:Disease . OMIM:616415 a owl:Class ; rdfs:label "familial adenomatous polyposis 3" ; IAO:0000142 PMID:25938944, PMID:26559593 ; - oboInOwl:hasDbXref UMLS:C4225157 ; oboInOwl:hasExactSynonym "FAP3", "familial adenomatous polyposis 3" ; rdfs:subClassOf OMIMPS:175100 ; + skos:exactMatch UMLS:C4225157 ; biolink:category biolink:Disease . OMIM:616418 a owl:Class ; rdfs:label "hypomagnesemia, seizures, and mental retardation 1" ; IAO:0000142 PMID:24699222 ; - oboInOwl:hasDbXref UMLS:C4225333 ; oboInOwl:hasExactSynonym "HOMGSMR1", "homgsmr", "hypomagnesemia, seizures, and mental retardation 1" ; rdfs:subClassOf OMIMPS:616418 ; + skos:exactMatch UMLS:C4225333 ; biolink:category biolink:Disease . OMIM:616420 a owl:Class ; rdfs:label "leukodystrophy, hypomyelinating, 10" ; IAO:0000142 PMID:25865492, PMID:27130255 ; - oboInOwl:hasDbXref UMLS:C4225332 ; oboInOwl:hasExactSynonym "HLD10", "leukodystrophy, hypomyelinating, 10" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C4225332 ; biolink:category biolink:Disease . OMIM:616421 a owl:Class ; rdfs:label "myoclonic-atonic epilepsy" ; IAO:0000142 PMID:19966779, PMID:25865495 ; - oboInOwl:hasDbXref UMLS:C4085238 ; oboInOwl:hasExactSynonym "MAE", "myoclonic-atonic epilepsy" ; + skos:exactMatch UMLS:C4085238 ; biolink:category biolink:Disease . OMIM:616433 a owl:Class ; rdfs:label "immunodeficiency 40" ; IAO:0000142 PMID:26083206 ; - oboInOwl:hasDbXref UMLS:C4225328 ; oboInOwl:hasExactSynonym "IMD40", "immunodeficiency 40" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4225328 ; biolink:category biolink:Disease . OMIM:616435 a owl:Class ; rdfs:label "fanconi anemia, complementation group t" ; IAO:0000142 PMID:26046368 ; - oboInOwl:hasDbXref UMLS:C4084840 ; oboInOwl:hasExactSynonym "FANCT", "fanconi anemia, complementation group t" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C4084840 ; biolink:category biolink:Disease . OMIM:616436 a owl:Class ; rdfs:label "epilepsy, familial temporal lobe, 7" ; IAO:0000142 PMID:26046367 ; - oboInOwl:hasDbXref UMLS:C4225327 ; oboInOwl:hasExactSynonym "ETL7", "epilepsy, familial temporal lobe, 7" ; rdfs:subClassOf OMIMPS:600512 ; + skos:exactMatch UMLS:C4225327 ; biolink:category biolink:Disease . OMIM:616445 a owl:Class ; rdfs:label "candidiasis, familial, 9" ; IAO:0000142 PMID:20554964, PMID:25918342 ; - oboInOwl:hasDbXref UMLS:C4225324 ; oboInOwl:hasExactSynonym "CANDF9", "candidiasis, familial, 9" ; rdfs:subClassOf OMIMPS:114580 ; + skos:exactMatch UMLS:C4225324 ; biolink:category biolink:Disease . OMIM:616449 a owl:Class ; rdfs:label "basel-vanagaite-smirin-yosef syndrome" ; IAO:0000142 PMID:25792360 ; - oboInOwl:hasDbXref UMLS:C4225323 ; oboInOwl:hasExactSynonym "BVSYS", "basel-vanagaite-smirin-yosef syndrome" ; + skos:exactMatch UMLS:C4225323 ; biolink:category biolink:Disease . OMIM:616455 a owl:Class ; @@ -458094,23 +474802,23 @@ OMIM:616455 a owl:Class ; IAO:0000142 PMID:18541964, PMID:23994350, PMID:25915598 ; - oboInOwl:hasDbXref UMLS:C4225321 ; oboInOwl:hasExactSynonym "ZLS2", "zimmermann-laband syndrome 2" ; rdfs:subClassOf OMIMPS:135500 ; + skos:exactMatch UMLS:C4225321 ; biolink:category biolink:Disease . OMIM:616457 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 50" ; IAO:0000142 PMID:25678555, PMID:28007989 ; - oboInOwl:hasDbXref UMLS:C4225320, - ORPHA:448010 ; oboInOwl:hasExactSynonym "DEE50", "congenital disorder of glycosylation, iia iz, formerly", "developmental and epileptic encephalopathy 50", "epileptic encephalopathy, early infantile, 50" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4225320, + ORPHA:448010 ; biolink:category biolink:Disease . OMIM:616459 a owl:Class ; @@ -458118,46 +474826,46 @@ OMIM:616459 a owl:Class ; IAO:0000142 PMID:25701870, PMID:25712129, PMID:30289615 ; - oboInOwl:hasDbXref UMLS:C4085595 ; oboInOwl:hasExactSynonym "ARS", "al-raqad syndrome" ; + skos:exactMatch UMLS:C4085595 ; biolink:category biolink:Disease . OMIM:616460 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 50" ; IAO:0000142 PMID:25701870 ; - oboInOwl:hasDbXref UMLS:C4225319 ; oboInOwl:hasExactSynonym "MRT50", "intellectual developmental disorder, autosomal recessive 50", "mental retardation, autosomal recessive 50" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4225319 ; biolink:category biolink:Disease . OMIM:616461 a owl:Class ; rdfs:label "epilepsy, familial temporal lobe, 8" ; IAO:0000142 PMID:25691535 ; - oboInOwl:hasDbXref UMLS:C4225318 ; oboInOwl:hasExactSynonym "ETL8", "epilepsy, familial temporal lobe, 8" ; rdfs:subClassOf OMIMPS:600512 ; + skos:exactMatch UMLS:C4225318 ; biolink:category biolink:Disease . OMIM:616462 a owl:Class ; rdfs:label "acrofacial dysostosis, cincinnati iia" ; IAO:0000142 PMID:25434003, PMID:25913037 ; - oboInOwl:hasDbXref UMLS:C4225317 ; oboInOwl:hasExactSynonym "AFDCIN", "acrofacial dysostosis, cincinnati iia" ; + skos:exactMatch UMLS:C4225317 ; biolink:category biolink:Disease . OMIM:616469 a owl:Class ; rdfs:label "retinitis pigmentosa 72" ; IAO:0000142 PMID:25882705 ; - oboInOwl:hasDbXref UMLS:C4225315 ; oboInOwl:hasExactSynonym "RP72", "retinitis pigmentosa 72" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4225315 ; biolink:category biolink:Disease . OMIM:616471 a owl:Class ; @@ -458165,34 +474873,34 @@ OMIM:616471 a owl:Class ; IAO:0000142 PMID:21670218, PMID:24334604, PMID:24334769 ; - oboInOwl:hasDbXref UMLS:C4225313, - ORPHA:610 ; oboInOwl:hasExactSynonym "BTHLM2", "bethlem myopathy 2", "eds, myopathic iia", "ehlers-danlos syndrome, myopathic iia" ; rdfs:subClassOf OMIMPS:130000, OMIMPS:158810 ; + skos:exactMatch UMLS:C4225313, + ORPHA:610 ; biolink:category biolink:Disease . OMIM:616479 a owl:Class ; rdfs:label "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" ; IAO:0000142 PMID:26094573 ; - oboInOwl:hasDbXref UMLS:C4225312 ; oboInOwl:hasExactSynonym "PEOB2", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2", "progressive external ophthalmoplegia, autosomal recessive 2" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C4225312 ; biolink:category biolink:Disease . OMIM:616481 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 32" ; IAO:0000142 PMID:26073779 ; - oboInOwl:hasDbXref UMLS:C4225311 ; oboInOwl:hasExactSynonym "CILD32", "ciliary dyskinesia, primary, 32", "ciliary dyskinesia, primary, 32, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4225311 ; biolink:category biolink:Disease . OMIM:616486 a owl:Class ; @@ -458201,23 +474909,23 @@ OMIM:616486 a owl:Class ; PMID:26005865, PMID:26005868, PMID:30043326 ; - oboInOwl:hasDbXref UMLS:C4225310, - ORPHA:2512 ; oboInOwl:hasExactSynonym "NEDMISBA", "microcephaly 15, primary, autosomal recessive", "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4225310, + ORPHA:2512 ; biolink:category biolink:Disease . OMIM:616488 a owl:Class ; rdfs:label "neuropathy, hereditary sensory and autonomic, iia 8" ; IAO:0000142 PMID:26005867, PMID:26975306 ; - oboInOwl:hasDbXref UMLS:C4225308 ; oboInOwl:hasExactSynonym "HSAN8", "hsan 8", "neuropathy, hereditary sensory and autonomic, iia 8" ; rdfs:subClassOf OMIMPS:162400 ; + skos:exactMatch UMLS:C4225308 ; biolink:category biolink:Disease . OMIM:616489 a owl:Class ; @@ -458227,24 +474935,24 @@ OMIM:616489 a owl:Class ; PMID:28848601, PMID:30152198, PMID:30400067 ; - oboInOwl:hasDbXref UMLS:C4225307, - ORPHA:397590, - ORPHA:813 ; oboInOwl:hasExactSynonym "SRS3", "growth restriction, severe, with distinctive facies", "silver-russell syndrome 3" ; rdfs:subClassOf OMIMPS:180860 ; + skos:exactMatch UMLS:C4225307, + ORPHA:397590, + ORPHA:813 ; biolink:category biolink:Disease . OMIM:616500 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 9" ; IAO:0000142 PMID:21457908 ; - oboInOwl:hasDbXref UMLS:C4225154, - ORPHA:1561 ; oboInOwl:hasExactSynonym "MC4DN9", "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3", "mitochondrial complex 4 deficiency, nuclear iia 9" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C4225154, + ORPHA:1561 ; biolink:category biolink:Disease . OMIM:616501 a owl:Class ; @@ -458253,41 +474961,41 @@ OMIM:616501 a owl:Class ; PMID:24549041, PMID:25339201, PMID:26160915 ; - oboInOwl:hasDbXref UMLS:C4225304, - ORPHA:1561 ; oboInOwl:hasExactSynonym "MC4DN13", "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4", "mitochondrial complex 4 deficiency, nuclear iia 13" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C4225304, + ORPHA:1561 ; biolink:category biolink:Disease . OMIM:616502 a owl:Class ; rdfs:label "cone-rod dystrophy 21" ; IAO:0000142 PMID:25983245, PMID:26720460 ; - oboInOwl:hasDbXref UMLS:C4049066 ; oboInOwl:hasExactSynonym "CORD21", "cone-rod dystrophy 21", "retinal dystrophy with early macular involvement" ; rdfs:subClassOf OMIMPS:120970 ; + skos:exactMatch UMLS:C4049066 ; biolink:category biolink:Disease . OMIM:616503 a owl:Class ; rdfs:label "lethal congenital contracture syndrome 9" ; IAO:0000142 PMID:26004201 ; - oboInOwl:hasDbXref UMLS:C4225303 ; oboInOwl:hasExactSynonym "LCCS9", "lethal congenital contracture syndrome 9" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C4225303 ; biolink:category biolink:Disease . OMIM:616507 a owl:Class ; rdfs:label "osteogenesis imperfecta, iia 17" ; IAO:0000142 PMID:26027498 ; - oboInOwl:hasDbXref UMLS:C4225301 ; oboInOwl:hasExactSynonym "OI17", "osteogenesis imperfecta, iia 17" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C4225301 ; biolink:category biolink:Disease . OMIM:616510 a owl:Class ; @@ -458295,30 +475003,31 @@ OMIM:616510 a owl:Class ; IAO:0000142 PMID:18675810 ; RO:0002525 CHR:9606chr14q22.1 ; RO:0003303 OMIM:616510 ; - oboInOwl:hasDbXref UMLS:C1426580 ; oboInOwl:hasExactSynonym "GNPNAT1", "glucosamine-6-phosphate n-acetyltransferase 1", "glucosamine-phosphate n-acetyltransferase 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:64841 ; - skos:exactMatch HGNC_symbol:GNPNAT1 ; + skos:exactMatch UMLS:C1426580, + HGNC:19980, + HGNC_symbol:GNPNAT1 ; biolink:category biolink:Gene . OMIM:616511 a owl:Class ; rdfs:label "maturity-onset diabetes of the young, iia 14" ; IAO:0000142 PMID:26073777 ; - oboInOwl:hasDbXref UMLS:C4225299 ; oboInOwl:hasExactSynonym "MODY14", "maturity-onset diabetes of the young, iia 14" ; + skos:exactMatch UMLS:C4225299 ; biolink:category biolink:Disease . OMIM:616517 a owl:Class ; rdfs:label "achromatopsia 7" ; IAO:0000142 PMID:26029869, PMID:26063662 ; - oboInOwl:hasDbXref UMLS:C4225297 ; oboInOwl:hasExactSynonym "ACHM7", "achromatopsia 7" ; + skos:exactMatch UMLS:C4225297 ; biolink:category biolink:Disease . OMIM:616521 a owl:Class ; @@ -458329,9 +475038,6 @@ OMIM:616521 a owl:Class ; PMID:26240977, PMID:28859103, PMID:30055078 ; - oboInOwl:hasDbXref UMLS:C4225296, - UMLS:C4225432, - UMLS:C4225433 ; oboInOwl:hasExactSynonym "MRD39", "chromosome 2p25.3 deletion syndrome", "chromosome 2p25.3 duplication syndrome", @@ -458339,6 +475045,9 @@ OMIM:616521 a owl:Class ; "mental retardation, autosomal dominant 39", "mental retardation, autosomal dominant 39, and obesity" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4225296, + UMLS:C4225432, + UMLS:C4225433 ; biolink:category biolink:Disease . OMIM:616532 a owl:Class ; @@ -458346,11 +475055,11 @@ OMIM:616532 a owl:Class ; IAO:0000142 PMID:20660188, PMID:26216125, PMID:26513235 ; - oboInOwl:hasDbXref UMLS:C4225294 ; oboInOwl:hasExactSynonym "IIAE7", "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7", "herpes simplex encephalitis, susceptibility to, 5" ; rdfs:subClassOf OMIMPS:610551 ; + skos:exactMatch UMLS:C4225294 ; biolink:category biolink:Disease . OMIM:616534 a owl:Class ; @@ -458359,20 +475068,20 @@ OMIM:616534 a owl:Class ; PMID:20350937, PMID:21981779, PMID:25381600 ; - oboInOwl:hasDbXref UMLS:C4225293 ; oboInOwl:hasExactSynonym "NMTC4", "thyroid cancer, nonmedullary, 4" ; rdfs:subClassOf OMIMPS:188550 ; + skos:exactMatch UMLS:C4225293 ; biolink:category biolink:Disease . OMIM:616539 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 26" ; IAO:0000142 PMID:2544623, PMID:26189817 ; - oboInOwl:hasDbXref UMLS:C4225290 ; oboInOwl:hasExactSynonym "COXPD26", "combined oxidative phosphorylation deficiency 26" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4225290 ; biolink:category biolink:Disease . OMIM:616541 a owl:Class ; @@ -458384,18 +475093,18 @@ OMIM:616541 a owl:Class ; PMID:25839420, PMID:25872942, PMID:26255102 ; - oboInOwl:hasDbXref UMLS:C4225288 ; oboInOwl:hasExactSynonym "SSMED", "short stature, microcephaly, and endocrine dysfunction" ; + skos:exactMatch UMLS:C4225288 ; biolink:category biolink:Disease . OMIM:616544 a owl:Class ; rdfs:label "retinitis pigmentosa 73" ; IAO:0000142 PMID:25859010 ; - oboInOwl:hasDbXref UMLS:C4225287 ; oboInOwl:hasExactSynonym "RP73", "retinitis pigmentosa 73" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4225287 ; biolink:category biolink:Disease . OMIM:616546 a owl:Class ; @@ -458403,59 +475112,59 @@ OMIM:616546 a owl:Class ; IAO:0000142 PMID:22791528, PMID:24183451, PMID:26166481 ; - oboInOwl:hasDbXref UMLS:C4225286 ; oboInOwl:hasExactSynonym "SRTD14", "short-rib thoracic dysplasia 14 with polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C4225286 ; biolink:category biolink:Disease . OMIM:616549 a owl:Class ; rdfs:label "klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" ; IAO:0000142 PMID:25748484, PMID:27858739 ; - oboInOwl:hasDbXref UMLS:C4225285 ; oboInOwl:hasExactSynonym "KFS4", "klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" ; rdfs:subClassOf OMIMPS:118100 ; + skos:exactMatch UMLS:C4225285 ; biolink:category biolink:Disease . OMIM:616553 a owl:Class ; rdfs:label "dyskeratosis congenita, autosomal dominant 6" ; IAO:0000142 PMID:25205116, PMID:25233904 ; - oboInOwl:hasDbXref UMLS:C4225283, - UMLS:C4225284 ; oboInOwl:hasExactSynonym "DKCA6", "dyskeratosis congenita, autosomal dominant 6", "dyskeratosis congenita, autosomal recessive 7" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C4225283, + UMLS:C4225284 ; biolink:category biolink:Disease . OMIM:616559 a owl:Class ; rdfs:label "noonan syndrome 9" ; IAO:0000142 PMID:25795793 ; - oboInOwl:hasDbXref UMLS:C4225282 ; oboInOwl:hasExactSynonym "NS9", "noonan syndrome 9" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C4225282 ; biolink:category biolink:Disease . OMIM:616562 a owl:Class ; rdfs:label "retinitis pigmentosa 74" ; IAO:0000142 PMID:25541840 ; - oboInOwl:hasDbXref UMLS:C4225281 ; oboInOwl:hasExactSynonym "RP74", "retinitis pigmentosa 74" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4225281 ; biolink:category biolink:Disease . OMIM:616566 a owl:Class ; rdfs:label "spondylocostal dysostosis 6, autosomal recessive" ; IAO:0000142 PMID:25343988 ; - oboInOwl:hasDbXref UMLS:C4225279 ; oboInOwl:hasExactSynonym "SCDO6", "spondylocostal dysostosis 6, autosomal recessive" ; rdfs:subClassOf OMIMPS:277300 ; + skos:exactMatch UMLS:C4225279 ; biolink:category biolink:Disease . OMIM:616576 a owl:Class ; @@ -458466,33 +475175,34 @@ OMIM:616576 a owl:Class ; PMID:27365489, PMID:29477724, PMID:32278790 ; - oboInOwl:hasDbXref UMLS:C4225277, - ORPHA:1572 ; oboInOwl:hasExactSynonym "CVID12", "immunodeficiency, common variable, 12, with autoimmunity", "nfkb1 deficiency" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C4225277, + ORPHA:1572 ; biolink:category biolink:Disease . OMIM:616577 a owl:Class ; rdfs:label "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities" ; IAO:0000142 PMID:26299366 ; - oboInOwl:hasDbXref UMLS:C4225276, - ORPHA:457351 ; oboInOwl:hasExactSynonym "NEDHSB", "epilepsy, hearing loss, and mental retardation syndrome", "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities" ; + skos:exactMatch UMLS:C4225276, + ORPHA:457351 ; biolink:category biolink:Disease . OMIM:616579 a owl:Class ; - rdfs:label "mental retardation, autosomal dominant 40" ; + rdfs:label "intellectual developmental disorder, autosomal dominant 40" ; IAO:0000142 PMID:23020937, PMID:25533962, PMID:26340335 ; - oboInOwl:hasDbXref UMLS:C4225275 ; oboInOwl:hasExactSynonym "MRD40", + "intellectual developmental disorder, autosomal dominant 40", "mental retardation, autosomal dominant 40" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4225275 ; biolink:category biolink:Disease . OMIM:616580 a owl:Class ; @@ -458501,39 +475211,39 @@ OMIM:616580 a owl:Class ; PMID:26954065, PMID:28771707, PMID:29904177 ; - oboInOwl:hasDbXref UMLS:C4225274 ; oboInOwl:hasExactSynonym "AUKS", "au-kline syndrome" ; + skos:exactMatch UMLS:C4225274 ; biolink:category biolink:Disease . OMIM:616586 a owl:Class ; rdfs:label "spastic paraplegia 9b, autosomal recessive" ; IAO:0000142 PMID:26026163 ; - oboInOwl:hasDbXref UMLS:C4225272, - ORPHA:447760 ; oboInOwl:hasExactSynonym "SPG9B", "spastic paraplegia 9b, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C4225272, + ORPHA:447760 ; biolink:category biolink:Disease . OMIM:616589 a owl:Class ; rdfs:label "adams-oliver syndrome 6" ; IAO:0000142 PMID:25132448, PMID:26299364 ; - oboInOwl:hasDbXref UMLS:C4225271 ; oboInOwl:hasExactSynonym "AOS6", "adams-oliver syndrome 6" ; rdfs:subClassOf OMIMPS:100300 ; + skos:exactMatch UMLS:C4225271 ; biolink:category biolink:Disease . OMIM:616622 a owl:Class ; rdfs:label "immunodeficiency 42" ; IAO:0000142 PMID:10963675, PMID:26160376 ; - oboInOwl:hasDbXref UMLS:C4225266 ; oboInOwl:hasExactSynonym "IMD42", "immunodeficiency 42" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4225266 ; biolink:category biolink:Disease . OMIM:616629 a owl:Class ; @@ -458541,28 +475251,28 @@ OMIM:616629 a owl:Class ; IAO:0000142 PMID:18364699, PMID:21945076, PMID:26487268 ; - oboInOwl:hasDbXref UMLS:C4225263 ; oboInOwl:hasExactSynonym "SLSN9", "senior-loken syndrome 9" ; rdfs:subClassOf OMIMPS:266900 ; + skos:exactMatch UMLS:C4225263 ; biolink:category biolink:Disease . OMIM:616631 a owl:Class ; rdfs:label "porokeratosis 9, multiple types" ; IAO:0000142 PMID:26202976, PMID:9188872 ; - oboInOwl:hasDbXref UMLS:C4225262 ; oboInOwl:hasExactSynonym "POROK9", "porokeratosis 9, multiple types" ; rdfs:subClassOf OMIMPS:175800 ; + skos:exactMatch UMLS:C4225262 ; biolink:category biolink:Disease . OMIM:616632 a owl:Class ; rdfs:label "seizures, cortical blindness, and microcephaly syndrome" ; IAO:0000142 PMID:24781755 ; - oboInOwl:hasDbXref UMLS:C4225261 ; oboInOwl:hasExactSynonym "SCBMS", "seizures, cortical blindness, and microcephaly syndrome" ; + skos:exactMatch UMLS:C4225261 ; biolink:category biolink:Disease . OMIM:616638 a owl:Class ; @@ -458572,32 +475282,32 @@ OMIM:616638 a owl:Class ; PMID:26542245, PMID:27753196, PMID:27830187 ; - oboInOwl:hasDbXref UMLS:C4225259 ; oboInOwl:hasExactSynonym "SKS", "macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism", "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "minds syndrome", "smith-kingsmore syndrome" ; + skos:exactMatch UMLS:C4225259 ; biolink:category biolink:Disease . OMIM:616640 a owl:Class ; rdfs:label "epilepsy, progressive myoclonic, 10" ; IAO:0000142 PMID:15304597, PMID:22961547 ; - oboInOwl:hasDbXref UMLS:C4225258 ; oboInOwl:hasExactSynonym "EPM10", "epilepsy, progressive myoclonic, 10" ; rdfs:subClassOf OMIMPS:254800 ; + skos:exactMatch UMLS:C4225258 ; biolink:category biolink:Disease . OMIM:616648 a owl:Class ; rdfs:label "optic atrophy 8" ; IAO:0000142 PMID:21349918 ; RO:0002525 CHR:9606chr16q21-q22 ; - oboInOwl:hasDbXref UMLS:C4085249 ; oboInOwl:hasExactSynonym "OPA8", "optic atrophy 8" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C4085249 ; biolink:category biolink:Disease . OMIM:616649 a owl:Class ; @@ -458609,10 +475319,10 @@ OMIM:616649 a owl:Class ; PMID:6215583, PMID:7104494, PMID:8102379 ; - oboInOwl:hasDbXref UMLS:C2674219 ; oboInOwl:hasExactSynonym "SPH2", "spherocytosis, iia 2", "spherocytosis, hereditary, 2" ; + skos:exactMatch UMLS:C2674219 ; biolink:category biolink:Disease . OMIM:616654 a owl:Class ; @@ -458620,10 +475330,10 @@ OMIM:616654 a owl:Class ; IAO:0000142 PMID:21565611, PMID:25118024, PMID:26092869 ; - oboInOwl:hasDbXref UMLS:C4084841 ; oboInOwl:hasExactSynonym "JBTS24", "joubert syndrome 24" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4084841 ; biolink:category biolink:Disease . OMIM:616657 a owl:Class ; @@ -458633,40 +475343,40 @@ OMIM:616657 a owl:Class ; PMID:26138499, PMID:27193218, PMID:29989513 ; - oboInOwl:hasDbXref UMLS:C4225254, - ORPHA:447997 ; oboInOwl:hasExactSynonym "SPATCCM", "spastic tetraplegia, thin corpus callosum, and progressive microcephaly" ; + skos:exactMatch UMLS:C4225254, + ORPHA:447997 ; biolink:category biolink:Disease . OMIM:616672 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 27" ; IAO:0000142 PMID:25361775, PMID:25787132 ; - oboInOwl:hasDbXref UMLS:C4225251 ; oboInOwl:hasExactSynonym "COXPD27", "combined oxidative phosphorylation deficiency 27" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4225251 ; biolink:category biolink:Disease . OMIM:616680 a owl:Class ; rdfs:label "spastic paraplegia 75, autosomal recessive" ; IAO:0000142 PMID:24482476, PMID:26179919 ; - oboInOwl:hasDbXref UMLS:C4225250 ; oboInOwl:hasExactSynonym "SPG75", "spastic paraplegia 75, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C4225250 ; biolink:category biolink:Disease . OMIM:616681 a owl:Class ; rdfs:label "microcephaly 16, primary, autosomal recessive" ; IAO:0000142 PMID:25259927, PMID:30214071 ; - oboInOwl:hasDbXref UMLS:C4225249 ; oboInOwl:hasExactSynonym "MCPH16", "microcephaly 16, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4225249 ; biolink:category biolink:Disease . OMIM:616682 a owl:Class ; @@ -458675,29 +475385,29 @@ OMIM:616682 a owl:Class ; PMID:30075207, PMID:30288735, PMID:30997052 ; - oboInOwl:hasDbXref UMLS:C4225248 ; oboInOwl:hasExactSynonym "SSMS", "seizures, scoliosis, and macrocephaly/microcephaly syndrome" ; + skos:exactMatch UMLS:C4225248 ; biolink:category biolink:Disease . OMIM:616683 a owl:Class ; rdfs:label "leukodystrophy, hypomyelinating, 12" ; IAO:0000142 PMID:26307567, PMID:27120463 ; - oboInOwl:hasDbXref UMLS:C4225247 ; oboInOwl:hasExactSynonym "HLD12", "leukodystrophy, hypomyelinating, 12" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C4225247 ; biolink:category biolink:Disease . OMIM:616685 a owl:Class ; rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 14" ; IAO:0000142 PMID:24668262, PMID:24928908 ; - oboInOwl:hasDbXref UMLS:C4225245 ; oboInOwl:hasExactSynonym "EIG14", "epilepsy, idiopathic generalized, susceptibility to, 14" ; rdfs:subClassOf OMIMPS:600669 ; + skos:exactMatch UMLS:C4225245 ; biolink:category biolink:Disease . OMIM:616689 a owl:Class ; @@ -458710,22 +475420,22 @@ OMIM:616689 a owl:Class ; PMID:6473461, PMID:652816, PMID:687829 ; - oboInOwl:hasDbXref UMLS:C4225242 ; oboInOwl:hasExactSynonym "DHS2", "dehydrated hereditary stomatocytosis 2", "desiccytosis gardos", "xerocytosis gardos" ; + skos:exactMatch UMLS:C4225242 ; biolink:category biolink:Disease . OMIM:616707 a owl:Class ; rdfs:label "deafness, autosomal dominant 68" ; IAO:0000142 PMID:25816005, PMID:30047143 ; - oboInOwl:hasDbXref UMLS:C4225240, - ORPHA:90635 ; oboInOwl:hasExactSynonym "DFNA68", "deafness, autosomal dominant 68" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4225240, + ORPHA:90635 ; biolink:category biolink:Disease . OMIM:616708 a owl:Class ; @@ -458735,34 +475445,34 @@ OMIM:616708 a owl:Class ; PMID:22258158, PMID:25356899, PMID:26264232 ; - oboInOwl:hasDbXref UMLS:C4225239, - ORPHA:284169, - ORPHA:466943, - ORPHA:466950 ; oboInOwl:hasExactSynonym "DESSH", "chromosome 10p12-p11 deletion syndrome", "desanto-shinawi syndrome", "developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities" ; + skos:exactMatch UMLS:C4225239, + ORPHA:284169, + ORPHA:466943, + ORPHA:466950 ; biolink:category biolink:Disease . OMIM:616710 a owl:Class ; rdfs:label "parkinson disease 22, autosomal dominant" ; IAO:0000142 PMID:19915576, PMID:25662902 ; - oboInOwl:hasDbXref UMLS:C4225238 ; oboInOwl:hasExactSynonym "PARK22", "parkinson disease 22, autosomal dominant" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C4225238 ; biolink:category biolink:Disease . OMIM:616716 a owl:Class ; rdfs:label "rhizomelic chondrodysplasia punctata, iia 5" ; IAO:0000142 PMID:15679822, PMID:26220973 ; - oboInOwl:hasDbXref UMLS:C4225237 ; oboInOwl:hasExactSynonym "RCDP5", "rhizomelic chondrodysplasia punctata, iia 5" ; rdfs:subClassOf OMIMPS:215100 ; + skos:exactMatch UMLS:C4225237 ; biolink:category biolink:Disease . OMIM:616719 a owl:Class ; @@ -458772,12 +475482,12 @@ OMIM:616719 a owl:Class ; PMID:26581903, PMID:29419818, PMID:30531813 ; - oboInOwl:hasDbXref UMLS:C4225236 ; oboInOwl:hasExactSynonym "SCAR21", "cholestasis, low ggt, acute liver failure, and neurodegeneration syndrome", "spinocerebellar ataxia, autosomal recessive 21", "spinocerebellar ataxia, autosomal recessive 21, with hepatopathy" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4225236 ; biolink:category biolink:Disease . OMIM:616720 a owl:Class ; @@ -458785,10 +475495,10 @@ OMIM:616720 a owl:Class ; IAO:0000142 PMID:11583983, PMID:20844119, PMID:26626625 ; - oboInOwl:hasDbXref UMLS:C4225235 ; oboInOwl:hasExactSynonym "CMS19", "myasthenic syndrome, congenital, 19" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4225235 ; biolink:category biolink:Disease . OMIM:616721 a owl:Class ; @@ -458796,39 +475506,39 @@ OMIM:616721 a owl:Class ; IAO:0000142 PMID:22563477, PMID:26637978, PMID:26637979 ; - oboInOwl:hasDbXref UMLS:C4225234 ; oboInOwl:hasExactSynonym "CDG2N", "cdg iin", "congenital disorder of glycosylation, iia iin" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C4225234 ; biolink:category biolink:Disease . OMIM:616722 a owl:Class ; rdfs:label "retinal dystrophy and iris coloboma with or without congenital cataract" ; IAO:0000142 PMID:26056285 ; - oboInOwl:hasDbXref UMLS:C4225233 ; oboInOwl:hasExactSynonym "RDICC", "retinal dystrophy and iris coloboma with or without congenital cataract" ; + skos:exactMatch UMLS:C4225233 ; biolink:category biolink:Disease . OMIM:616723 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, faden-alkuraya iia" ; IAO:0000142 PMID:26365341 ; - oboInOwl:hasDbXref UMLS:C4225232 ; oboInOwl:hasExactSynonym "SEMDFA", "spondyloepimetaphyseal dysplasia, faden-alkuraya iia", "spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis" ; + skos:exactMatch UMLS:C4225232 ; biolink:category biolink:Disease . OMIM:616726 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 33" ; IAO:0000142 PMID:19043402, PMID:26387594 ; - oboInOwl:hasDbXref UMLS:C4225230 ; oboInOwl:hasExactSynonym "CILD33", "ciliary dyskinesia, primary, 33", "ciliary dyskinesia, primary, 33, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4225230 ; biolink:category biolink:Disease . OMIM:616728 a owl:Class ; @@ -458836,10 +475546,10 @@ OMIM:616728 a owl:Class ; IAO:0000142 PMID:23020937, PMID:24838796, PMID:26656649 ; - oboInOwl:hasDbXref UMLS:C4225229, - ORPHA:477993 ; oboInOwl:hasExactSynonym "CPRF", "cleft palate, psychomotor retardation, and distinctive facial features" ; + skos:exactMatch UMLS:C4225229, + ORPHA:477993 ; biolink:category biolink:Disease . OMIM:616730 a owl:Class ; @@ -458847,29 +475557,29 @@ OMIM:616730 a owl:Class ; IAO:0000142 PMID:16968734, PMID:26411495, PMID:30179222 ; - oboInOwl:hasDbXref UMLS:C4225228 ; oboInOwl:hasExactSynonym "NPHS11", "nephrotic syndrome, iia 11" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C4225228 ; biolink:category biolink:Disease . OMIM:616732 a owl:Class ; rdfs:label "optic atrophy 10 with or without ataxia, mental retardation, and seizures" ; IAO:0000142 PMID:26593267, PMID:28638143 ; - oboInOwl:hasDbXref UMLS:C4225227 ; oboInOwl:hasExactSynonym "OPA10", "optic atrophy 10 with or without ataxia, mental retardation, and seizures" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C4225227 ; biolink:category biolink:Disease . OMIM:616733 a owl:Class ; rdfs:label "coenzyme Q10 deficiency, primary, 8" ; IAO:0000142 PMID:26084283 ; - oboInOwl:hasDbXref UMLS:C4225226 ; oboInOwl:hasExactSynonym "COQ10D8", "coenzyme Q10 deficiency, primary, 8" ; rdfs:subClassOf OMIMPS:607426 ; + skos:exactMatch UMLS:C4225226 ; biolink:category biolink:Disease . OMIM:616734 a owl:Class ; @@ -458877,20 +475587,20 @@ OMIM:616734 a owl:Class ; IAO:0000142 PMID:19182162, PMID:21262397, PMID:26637975 ; - oboInOwl:hasDbXref UMLS:C4225225 ; oboInOwl:hasExactSynonym "CSCSC2", "skin creases, congenital symmetric circumferential, 2" ; rdfs:subClassOf OMIMPS:156610 ; + skos:exactMatch UMLS:C4225225 ; biolink:category biolink:Disease . OMIM:616736 a owl:Class ; rdfs:label "tremor, hereditary essential, 5" ; IAO:0000142 PMID:22915103, PMID:26188006 ; - oboInOwl:hasDbXref UMLS:C4225223 ; oboInOwl:hasExactSynonym "ETM5", "tremor, hereditary essential, 5" ; rdfs:subClassOf OMIMPS:190300 ; + skos:exactMatch UMLS:C4225223 ; biolink:category biolink:Disease . OMIM:616737 a owl:Class ; @@ -458899,39 +475609,40 @@ OMIM:616737 a owl:Class ; PMID:26386261, PMID:26708094, PMID:29394990 ; - oboInOwl:hasDbXref UMLS:C4225222, - ORPHA:487796 ; oboInOwl:hasExactSynonym "TKS", "macrothrombocytopenia and mental retardation syndrome", "takenouchi-kosaki syndrome" ; + skos:exactMatch UMLS:C4225222, + ORPHA:487796 ; biolink:category biolink:Disease . OMIM:616738 a owl:Class ; rdfs:label "radioulnar synostosis with amegakaryocytic thrombocytopenia 2" ; IAO:0000142 PMID:20091385, PMID:26581901 ; - oboInOwl:hasDbXref UMLS:C4225221 ; oboInOwl:hasExactSynonym "RUSAT2", "radioulnar synostosis with amegakaryocytic thrombocytopenia 2" ; rdfs:subClassOf OMIMPS:605432 ; + skos:exactMatch UMLS:C4225221 ; biolink:category biolink:Disease . OMIM:616740 a owl:Class ; rdfs:label "immunodeficiency 46" ; IAO:0000142 PMID:26642240 ; - oboInOwl:hasDbXref UMLS:C4225219 ; oboInOwl:hasExactSynonym "IMD46", "immunodeficiency 46" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4225219 ; biolink:category biolink:Disease . OMIM:616744 a owl:Class ; rdfs:label "autoinflammatory syndrome, familial, behcet-like 1" ; IAO:0000142 PMID:26642243 ; - oboInOwl:hasDbXref UMLS:C4225218 ; oboInOwl:hasExactSynonym "AIFBL1", "aifbl", "autoinflammatory syndrome, familial, behcet-like 1" ; + rdfs:subClassOf OMIMPS:616744 ; + skos:exactMatch UMLS:C4225218 ; biolink:category biolink:Disease . OMIM:616749 a owl:Class ; @@ -458940,10 +475651,10 @@ OMIM:616749 a owl:Class ; PMID:26429889, PMID:26437028, PMID:26437029 ; - oboInOwl:hasDbXref UMLS:C4225217 ; oboInOwl:hasExactSynonym "HTX7", "heterotaxy, visceral, 7, autosomal" ; rdfs:subClassOf OMIMPS:306955 ; + skos:exactMatch UMLS:C4225217 ; biolink:category biolink:Disease . OMIM:616754 a owl:Class ; @@ -458960,90 +475671,90 @@ OMIM:616754 a owl:Class ; PMID:9299444, PMID:9556663, PMID:9745152 ; - oboInOwl:hasDbXref UMLS:C1859408, - UMLS:C1859411, - UMLS:C4225430, - UMLS:C4749062 ; oboInOwl:hasExactSynonym "bombay phenotype", "bombay phenotype, digenic", "para-bombay phenotype", "reunion variant" ; + skos:exactMatch UMLS:C1859408, + UMLS:C1859411, + UMLS:C4225430, + UMLS:C4749062 ; biolink:category biolink:Disease . OMIM:616756 a owl:Class ; rdfs:label "spastic paraplegia and psychomotor retardation with or without seizures" ; IAO:0000142 PMID:26424145, PMID:26437029 ; - oboInOwl:hasDbXref UMLS:C4225215 ; oboInOwl:hasExactSynonym "SPPRS", "spastic paraplegia and psychomotor retardation with or without seizures" ; + skos:exactMatch UMLS:C4225215 ; biolink:category biolink:Disease . OMIM:616760 a owl:Class ; rdfs:label "woolly hair, autosomal recessive 3" ; IAO:0000142 PMID:26160856, PMID:26902920 ; - oboInOwl:hasDbXref UMLS:C4225214 ; oboInOwl:hasExactSynonym "ARWH3", "woolly hair, autosomal recessive 3", "woolly hair, autosomal recessive 3, with hypotrichosis" ; + skos:exactMatch UMLS:C4225214 ; biolink:category biolink:Disease . OMIM:616763 a owl:Class ; rdfs:label "leukodystrophy and acquired microcephaly with or without dystonia" ; IAO:0000142 PMID:26573021 ; - oboInOwl:hasDbXref UMLS:C4225213 ; oboInOwl:hasExactSynonym "LDAMD", "leukodystrophy and acquired microcephaly with or without dystonia" ; + skos:exactMatch UMLS:C4225213 ; biolink:category biolink:Disease . OMIM:616777 a owl:Class ; rdfs:label "seckel syndrome 9" ; IAO:0000142 PMID:11424145, PMID:26595769 ; - oboInOwl:hasDbXref UMLS:C4225212 ; oboInOwl:hasExactSynonym "SCKL9", "seckel syndrome 9" ; rdfs:subClassOf OMIMPS:210600 ; + skos:exactMatch UMLS:C4225212 ; biolink:category biolink:Disease . OMIM:616780 a owl:Class ; rdfs:label "oocyte maturation defect 2" ; IAO:0000142 PMID:26789871, PMID:27273344 ; - oboInOwl:hasDbXref UMLS:C4225210 ; oboInOwl:hasExactSynonym "OOMD2", "oocyte maturation defect 2" ; rdfs:subClassOf OMIMPS:615774 ; + skos:exactMatch UMLS:C4225210 ; biolink:category biolink:Disease . OMIM:616781 a owl:Class ; rdfs:label "joubert syndrome 25" ; IAO:0000142 PMID:26477546 ; - oboInOwl:hasDbXref UMLS:C4084842 ; oboInOwl:hasExactSynonym "JBTS25", "joubert syndrome 25" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4084842 ; biolink:category biolink:Disease . OMIM:616784 a owl:Class ; rdfs:label "joubert syndrome 26" ; IAO:0000142 PMID:26714646, PMID:27245168 ; - oboInOwl:hasDbXref UMLS:C4084843, - ORPHA:475 ; oboInOwl:hasExactSynonym "JBTS26", "joubert syndrome 26" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4084843, + ORPHA:475 ; biolink:category biolink:Disease . OMIM:616788 a owl:Class ; rdfs:label "orofacial cleft 15" ; IAO:0000142 PMID:25954033 ; - oboInOwl:hasDbXref UMLS:C4225209 ; oboInOwl:hasExactSynonym "OFC15", "orofacial cleft 15" ; rdfs:subClassOf OMIMPS:119530 ; + skos:exactMatch UMLS:C4225209 ; biolink:category biolink:Disease . OMIM:616789 a owl:Class ; @@ -459056,11 +475767,11 @@ OMIM:616789 a owl:Class ; PMID:25356899, PMID:25712080, PMID:25758992 ; - oboInOwl:hasDbXref UMLS:C4225208 ; oboInOwl:hasExactSynonym "MRFACD", "asadollahi-rauch syndrome", "impaired intellectual development and distinctive facial features with or without cardiac defects", "mental retardation and distinctive facial features with or without cardiac defects" ; + skos:exactMatch UMLS:C4225208 ; biolink:category biolink:Disease . OMIM:616792 a owl:Class ; @@ -459068,18 +475779,18 @@ OMIM:616792 a owl:Class ; IAO:0000142 PMID:21124317, PMID:26560027 ; RO:0002525 CHR:9606chr11p15 ; - oboInOwl:hasDbXref UMLS:C4225207 ; oboInOwl:hasExactSynonym "NBLST7", "neuroblastoma, susceptibility to, 7" ; + skos:exactMatch UMLS:C4225207 ; biolink:category biolink:Disease . OMIM:616794 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 28" ; IAO:0000142 PMID:26522469 ; - oboInOwl:hasDbXref UMLS:C4225206 ; oboInOwl:hasExactSynonym "COXPD28", "combined oxidative phosphorylation deficiency 28" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4225206 ; biolink:category biolink:Disease . OMIM:616801 a owl:Class ; @@ -459087,10 +475798,10 @@ OMIM:616801 a owl:Class ; IAO:0000142 PMID:26545877, PMID:26708751, PMID:26708753 ; - oboInOwl:hasDbXref UMLS:C4225203 ; oboInOwl:hasExactSynonym "IHPRF2", "hypotonia, infantile, with psychomotor retardation and characteristic facies 2" ; rdfs:subClassOf OMIMPS:615419 ; + skos:exactMatch UMLS:C4225203 ; biolink:category biolink:Disease . OMIM:616803 a owl:Class ; @@ -459100,127 +475811,127 @@ OMIM:616803 a owl:Class ; PMID:23220431, PMID:23498568, PMID:26111154 ; - oboInOwl:hasDbXref UMLS:C4225202 ; oboInOwl:hasExactSynonym "LAMSHF", "lamb-shaffer syndrome" ; + skos:exactMatch UMLS:C4225202 ; biolink:category biolink:Disease . OMIM:616806 a owl:Class ; rdfs:label "wilms tumor 6" ; IAO:0000142 PMID:26551668 ; - oboInOwl:hasDbXref UMLS:C3891301, - ORPHA:654 ; oboInOwl:hasExactSynonym "WT6", "wilms tumor 6" ; rdfs:subClassOf OMIMPS:194070 ; + skos:exactMatch UMLS:C3891301, + ORPHA:654 ; biolink:category biolink:Disease . OMIM:616809 a owl:Class ; rdfs:label "hyperphosphatasia with mental retardation syndrome 6" ; IAO:0000142 PMID:26293662 ; - oboInOwl:hasDbXref UMLS:C4225201 ; oboInOwl:hasExactSynonym "HPMRS6", "glycosylphosphatidylinositol biosynthesis defect 12", "hyperphosphatasia with mental retardation syndrome 6" ; rdfs:subClassOf OMIMPS:239300 ; + skos:exactMatch UMLS:C4225201 ; biolink:category biolink:Disease . OMIM:616811 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 29" ; IAO:0000142 PMID:26626369 ; - oboInOwl:hasDbXref UMLS:C4225200 ; oboInOwl:hasExactSynonym "COXPD29", "combined oxidative phosphorylation deficiency 29" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4225200 ; biolink:category biolink:Disease . OMIM:616812 a owl:Class ; rdfs:label "muscular dystrophy, limb-girdle, autosomal recessive 25" ; IAO:0000142 PMID:26642364, PMID:31119192 ; - oboInOwl:hasDbXref UMLS:C4225199 ; oboInOwl:hasExactSynonym "LGMDR25", "cardiac arrhythmia with increased serum creatine kinase", "muscular dystrophy, limb-girdle, iia 2x", "muscular dystrophy, limb-girdle, autosomal recessive 25" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C4225199 ; biolink:category biolink:Disease . OMIM:616814 a owl:Class ; rdfs:label "preimplantation embryonic lethality 1" ; IAO:0000142 PMID:26537248 ; - oboInOwl:hasDbXref UMLS:C4225197 ; oboInOwl:hasExactSynonym "PREMBL1", "preimplantation embryonic lethality 1", "prembl" ; rdfs:subClassOf OMIMPS:616814 ; + skos:exactMatch UMLS:C4225197 ; biolink:category biolink:Disease . OMIM:616816 a owl:Class ; rdfs:label "hypotonia, infantile, with psychomotor retardation" ; IAO:0000142 PMID:26358778 ; - oboInOwl:hasDbXref UMLS:C4225196 ; oboInOwl:hasExactSynonym "IHPMR", "hypotonia, infantile, with psychomotor retardation" ; + skos:exactMatch UMLS:C4225196 ; biolink:category biolink:Disease . OMIM:616817 a owl:Class ; rdfs:label "microcephaly, short stature, and impaired glucose metabolism 2" ; IAO:0000142 PMID:26159176, PMID:26307080 ; - oboInOwl:hasDbXref UMLS:C4225195 ; oboInOwl:hasExactSynonym "MSSGM2", "microcephaly, short stature, and impaired glucose metabolism 2" ; + skos:exactMatch UMLS:C4225195 ; biolink:category biolink:Disease . OMIM:616818 a owl:Class ; rdfs:label "iga nephropathy, susceptibility to, 3" ; IAO:0000142 PMID:25782674 ; - oboInOwl:hasDbXref UMLS:C4225194 ; oboInOwl:hasExactSynonym "IGAN3", "iga nephropathy, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:161950 ; + skos:exactMatch UMLS:C4225194 ; biolink:category biolink:Disease . OMIM:616819 a owl:Class ; rdfs:label "corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia" ; IAO:0000142 PMID:25388005 ; - oboInOwl:hasDbXref UMLS:C4225193 ; oboInOwl:hasExactSynonym "CCAFCA", "birk-flusser syndrome", "corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia" ; + skos:exactMatch UMLS:C4225193 ; biolink:category biolink:Disease . OMIM:616827 a owl:Class ; rdfs:label "muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue" ; IAO:0000142 PMID:25589244 ; - oboInOwl:hasDbXref UMLS:C4225192 ; oboInOwl:hasExactSynonym "MDRCMTT", "muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue", "muscular dystrophy, limb-girdle, iia 2w" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C4225192 ; biolink:category biolink:Disease . OMIM:616828 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iio" ; IAO:0000142 PMID:21362473, PMID:26833332 ; - oboInOwl:hasDbXref UMLS:C4225191 ; oboInOwl:hasExactSynonym "CDG2O", "cdg iio", "congenital disorder of glycosylation, iia iio" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C4225191 ; biolink:category biolink:Disease . OMIM:616829 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iip" ; IAO:0000142 PMID:19067230, PMID:26833330 ; - oboInOwl:hasDbXref UMLS:C4225190 ; oboInOwl:hasExactSynonym "CDG2P", "cdg iip", "congenital disorder of glycosylation, iia iip" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C4225190 ; biolink:category biolink:Disease . OMIM:616831 a owl:Class ; @@ -459230,9 +475941,9 @@ OMIM:616831 a owl:Class ; PMID:24852293, PMID:25363768, PMID:26084711 ; - oboInOwl:hasDbXref UMLS:C4085873 ; oboInOwl:hasExactSynonym "LLS", "luscan-lumish syndrome" ; + skos:exactMatch UMLS:C4085873 ; biolink:category biolink:Disease . OMIM:616833 a owl:Class ; @@ -459240,20 +475951,20 @@ OMIM:616833 a owl:Class ; IAO:0000142 PMID:15123951, PMID:22936311, PMID:26849110 ; - oboInOwl:hasDbXref UMLS:C4085250 ; oboInOwl:hasExactSynonym "PDB6", "paget disease of bone 6" ; rdfs:subClassOf OMIMPS:167250 ; + skos:exactMatch UMLS:C4085250 ; biolink:category biolink:Disease . OMIM:616834 a owl:Class ; rdfs:label "microcephaly, congenital cataract, and psoriasiform dermatitis" ; IAO:0000142 PMID:21285510, PMID:24144731 ; - oboInOwl:hasDbXref UMLS:C4225189 ; oboInOwl:hasExactSynonym "MCCPD", "microcephaly, congenital cataract, and psoriasiform dermatitis", "sc4mol deficiency" ; + skos:exactMatch UMLS:C4225189 ; biolink:category biolink:Disease . OMIM:616835 a owl:Class ; @@ -459261,48 +475972,48 @@ OMIM:616835 a owl:Class ; IAO:0000142 PMID:11477602, PMID:22333897, PMID:26637980 ; - oboInOwl:hasDbXref UMLS:C4225188, - ORPHA:2554 ; oboInOwl:hasExactSynonym "MGORS6", "meier-gorlin syndrome 6" ; rdfs:subClassOf OMIMPS:224690 ; + skos:exactMatch UMLS:C4225188, + ORPHA:2554 ; biolink:category biolink:Disease . OMIM:616839 a owl:Class ; rdfs:label "exercise intolerance, riboflavin-responsive" ; IAO:0000142 PMID:26933868 ; - oboInOwl:hasDbXref UMLS:C4225187 ; oboInOwl:hasExactSynonym "RREI", "exercise intolerance, riboflavin-responsive" ; + skos:exactMatch UMLS:C4225187 ; biolink:category biolink:Disease . OMIM:616840 a owl:Class ; rdfs:label "parkinson disease 23, autosomal recessive early-onset" ; IAO:0000142 PMID:26942284 ; - oboInOwl:hasDbXref UMLS:C4225186, - ORPHA:2828 ; oboInOwl:hasExactSynonym "PARK23", "parkinson disease 23, autosomal recessive early-onset" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C4225186, + ORPHA:2828 ; biolink:category biolink:Disease . OMIM:616851 a owl:Class ; rdfs:label "cataract 45" ; IAO:0000142 PMID:25804400 ; - oboInOwl:hasDbXref UMLS:C4225182 ; oboInOwl:hasExactSynonym "CTRCT45", "cataract 45" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C4225182 ; biolink:category biolink:Disease . OMIM:616854 a owl:Class ; rdfs:label "even-plus syndrome" ; IAO:0000142 PMID:10424819, PMID:26598328 ; - oboInOwl:hasDbXref UMLS:C4225180 ; oboInOwl:hasExactSynonym "EVPLS", "epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations", "even-plus syndrome" ; + skos:exactMatch UMLS:C4225180 ; biolink:category biolink:Disease . OMIM:616859 a owl:Class ; @@ -459310,21 +476021,21 @@ OMIM:616859 a owl:Class ; IAO:0000142 PMID:21471552, PMID:24334290, PMID:26100117 ; - oboInOwl:hasDbXref UMLS:C4225178 ; oboInOwl:hasExactSynonym "SPAHGC", "spasticity, childhood-onset, with hyperglycinemia" ; + skos:exactMatch UMLS:C4225178 ; biolink:category biolink:Disease . OMIM:616863 a owl:Class ; rdfs:label "hao-fountain syndrome" ; IAO:0000142 PMID:26365382, PMID:30679821 ; - oboInOwl:hasDbXref UMLS:C5393908, - ORPHA:500055 ; oboInOwl:hasExactSynonym "HAFOUS", "chromosome 16p13.2 deletion syndrome", "hao-fountain syndrome", "intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies" ; + skos:exactMatch UMLS:C5393908, + ORPHA:500055 ; biolink:category biolink:Disease . OMIM:616867 a owl:Class ; @@ -459333,11 +476044,11 @@ OMIM:616867 a owl:Class ; PMID:28218388, PMID:30327447, PMID:31880396 ; - oboInOwl:hasDbXref UMLS:C4225176, - ORPHA:486811 ; oboInOwl:hasExactSynonym "SMABF2", "spinal muscular atrophy with congenital bone fractures 2" ; rdfs:subClassOf OMIMPS:616866 ; + skos:exactMatch UMLS:C4225176, + ORPHA:486811 ; biolink:category biolink:Disease . OMIM:616868 a owl:Class ; @@ -459346,22 +476057,22 @@ OMIM:616868 a owl:Class ; PMID:30633106, PMID:31276831, PMID:3880821 ; - oboInOwl:hasDbXref UMLS:C0267663, - ORPHA:103908 ; oboInOwl:hasExactSynonym "DIAR8", "diarrhea 8, secretory sodium, congenital", "diarrhea, congenital sodium" ; rdfs:subClassOf OMIMPS:214700 ; + skos:exactMatch UMLS:C0267663, + ORPHA:103908 ; biolink:category biolink:Disease . OMIM:616871 a owl:Class ; rdfs:label "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" ; IAO:0000142 PMID:25920683, PMID:26712909 ; - oboInOwl:hasDbXref UMLS:C4225174, - ORPHA:488647 ; oboInOwl:hasExactSynonym "MPLPF", "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" ; + skos:exactMatch UMLS:C4225174, + ORPHA:488647 ; biolink:category biolink:Disease . OMIM:616873 a owl:Class ; @@ -459369,100 +476080,100 @@ OMIM:616873 a owl:Class ; IAO:0000142 PMID:21548011, PMID:26981933, PMID:7923373 ; - oboInOwl:hasDbXref UMLS:C4225173 ; oboInOwl:hasExactSynonym "CVID13", "immunodeficiency, common variable, 13" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C4225173 ; biolink:category biolink:Disease . OMIM:616875 a owl:Class ; rdfs:label "cerebellar atrophy, visual impairment, and psychomotor retardation" ; IAO:0000142 PMID:26942288 ; - oboInOwl:hasDbXref UMLS:C4225172 ; oboInOwl:hasExactSynonym "CAVIPMR", "cerebellar atrophy, visual impairment, and psychomotor retardation" ; + skos:exactMatch UMLS:C4225172 ; biolink:category biolink:Disease . OMIM:616878 a owl:Class ; rdfs:label "metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" ; IAO:0000142 PMID:26805781, PMID:26805782 ; - oboInOwl:hasDbXref UMLS:C4225171 ; oboInOwl:hasExactSynonym "MECRCN", "metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" ; + skos:exactMatch UMLS:C4225171 ; biolink:category biolink:Disease . OMIM:616881 a owl:Class ; rdfs:label "leukodystrophy, hypomyelinating, 13" ; IAO:0000142 PMID:26545878 ; - oboInOwl:hasDbXref UMLS:C4225170 ; oboInOwl:hasExactSynonym "HLD13", "leukodystrophy, hypomyelinating, 13" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C4225170 ; biolink:category biolink:Disease . OMIM:616882 a owl:Class ; rdfs:label "advanced sleep phase syndrome, familial, 3" ; IAO:0000142 PMID:26903630 ; - oboInOwl:hasDbXref UMLS:C4225169 ; oboInOwl:hasExactSynonym "FASPS3", "advanced sleep phase syndrome, familial, 3" ; rdfs:subClassOf OMIMPS:604348 ; + skos:exactMatch UMLS:C4225169 ; biolink:category biolink:Disease . OMIM:616887 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 52" ; IAO:0000142 PMID:26566883 ; - oboInOwl:hasDbXref UMLS:C4225168 ; oboInOwl:hasExactSynonym "MRT52", "intellectual developmental disorder, autosomal recessive 52", "mental retardation, autosomal recessive 52" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4225168 ; biolink:category biolink:Disease . OMIM:616890 a owl:Class ; rdfs:label "split-foot malformation with mesoaxial polydactyly" ; IAO:0000142 PMID:26755636 ; - oboInOwl:hasDbXref UMLS:C4225167 ; oboInOwl:hasExactSynonym "SFMMP", "split-foot malformation with mesoaxial polydactyly" ; + skos:exactMatch UMLS:C4225167 ; biolink:category biolink:Disease . OMIM:616892 a owl:Class ; rdfs:label "nephrotic syndrome, iia 12" ; IAO:0000142 PMID:26878725 ; - oboInOwl:hasDbXref UMLS:C4225166 ; oboInOwl:hasExactSynonym "NPHS12", "nephrotic syndrome, iia 12" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C4225166 ; biolink:category biolink:Disease . OMIM:616893 a owl:Class ; rdfs:label "nephrotic syndrome, iia 13" ; IAO:0000142 PMID:26878725 ; - oboInOwl:hasDbXref UMLS:C4225165, - ORPHA:656 ; oboInOwl:hasExactSynonym "NPHS13", "nephrotic syndrome, iia 13" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C4225165, + ORPHA:656 ; biolink:category biolink:Disease . OMIM:616894 a owl:Class ; rdfs:label "robinow syndrome, autosomal dominant 3" ; IAO:0000142 PMID:26924530 ; - oboInOwl:hasDbXref UMLS:C4225164 ; oboInOwl:hasExactSynonym "DRS3", "robinow syndrome, autosomal dominant 3" ; rdfs:subClassOf OMIMPS:268310 ; + skos:exactMatch UMLS:C4225164 ; biolink:category biolink:Disease . OMIM:616897 a owl:Class ; rdfs:label "osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia" ; IAO:0000142 PMID:26365339 ; - oboInOwl:hasDbXref UMLS:C4225162, - ORPHA:457378 ; oboInOwl:hasExactSynonym "OCLSBG", "osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck iia" ; + skos:exactMatch UMLS:C4225162, + ORPHA:457378 ; biolink:category biolink:Disease . OMIM:616900 a owl:Class ; @@ -459470,10 +476181,10 @@ OMIM:616900 a owl:Class ; IAO:0000142 PMID:25558065, PMID:27040691, PMID:27040692 ; - oboInOwl:hasDbXref UMLS:C4225161 ; oboInOwl:hasExactSynonym "IHPRF3", "hypotonia, infantile, with psychomotor retardation and characteristic facies 3" ; rdfs:subClassOf OMIMPS:615419 ; + skos:exactMatch UMLS:C4225161 ; biolink:category biolink:Disease . OMIM:616901 a owl:Class ; @@ -459483,10 +476194,10 @@ OMIM:616901 a owl:Class ; PMID:26220823, PMID:29362492, PMID:30877278 ; - oboInOwl:hasDbXref UMLS:C4310801 ; oboInOwl:hasExactSynonym "DEDSSH", "developmental delay with short stature, dysmorphic facial features, and sparse hair", "loucks-innes syndrome" ; + skos:exactMatch UMLS:C4310801 ; biolink:category biolink:Disease . OMIM:616902 a owl:Class ; @@ -459494,28 +476205,28 @@ OMIM:616902 a owl:Class ; IAO:0000142 PMID:26010655 ; RO:0002525 CHR:9606chr11p13 ; RO:0003303 OMIM:616902 ; - oboInOwl:hasDbXref UMLS:C4311047 ; oboInOwl:hasExactSynonym "chromosome 11p13 deletion syndrome, distal" ; + skos:exactMatch UMLS:C4311047 ; biolink:category biolink:Disease . OMIM:616903 a owl:Class ; rdfs:label "thiopurines, poor metabolism of, 2" ; IAO:0000142 PMID:25108385, PMID:26878724 ; - oboInOwl:hasDbXref UMLS:C4225160 ; oboInOwl:hasExactSynonym "THPM2", "nudt15 deficiency", "thiopurines, poor metabolism of, 2" ; rdfs:subClassOf OMIMPS:610460 ; + skos:exactMatch UMLS:C4225160 ; biolink:category biolink:Disease . OMIM:616907 a owl:Class ; rdfs:label "spastic paraplegia 76, autosomal recessive" ; IAO:0000142 PMID:27153400 ; - oboInOwl:hasDbXref UMLS:C4310800 ; oboInOwl:hasExactSynonym "SPG76", "spastic paraplegia 76, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C4310800 ; biolink:category biolink:Disease . OMIM:616910 a owl:Class ; @@ -459523,67 +476234,56 @@ OMIM:616910 a owl:Class ; IAO:0000142 PMID:15952214, PMID:1999836, PMID:26216346 ; - oboInOwl:hasDbXref UMLS:C4310799 ; oboInOwl:hasExactSynonym "ICF3", "immunodeficiency-centromeric instability-facial anomalies syndrome 3" ; rdfs:subClassOf OMIMPS:242860 ; + skos:exactMatch UMLS:C4310799 ; biolink:category biolink:Disease . OMIM:616911 a owl:Class ; rdfs:label "immunodeficiency-centromeric instability-facial anomalies syndrome 4" ; IAO:0000142 PMID:26216346 ; - oboInOwl:hasDbXref UMLS:C4310798 ; oboInOwl:hasExactSynonym "ICF4", "immunodeficiency-centromeric instability-facial anomalies syndrome 4" ; rdfs:subClassOf OMIMPS:242860 ; + skos:exactMatch UMLS:C4310798 ; biolink:category biolink:Disease . OMIM:616913 a owl:Class ; rdfs:label "bleeding disorder, platelet-type, 20" ; IAO:0000142 PMID:26280575, PMID:26769223 ; - oboInOwl:hasDbXref UMLS:C4310797 ; oboInOwl:hasExactSynonym "BDPLT20", "bleeding disorder, platelet-type, 20" ; rdfs:subClassOf OMIMPS:231200 ; - biolink:category biolink:Disease . - -OMIM:616917 a owl:Class ; - rdfs:label "intellectual developmental disorder, autosomal recessive 53" ; - IAO:0000142 PMID:26996948 ; - oboInOwl:hasDbXref UMLS:C4310794 ; - oboInOwl:hasExactSynonym "MRT53", - "glycosylphosphatidylinositol biosynthesis defect 13", - "intellectual developmental disorder, autosomal recessive 53", - "mental retardation, autosomal recessive 53" ; - rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4310797 ; biolink:category biolink:Disease . OMIM:616920 a owl:Class ; rdfs:label "heart and brain malformation syndrome" ; IAO:0000142 PMID:27018474 ; - oboInOwl:hasDbXref UMLS:C4310793 ; oboInOwl:hasExactSynonym "HBMS", "heart and brain malformation syndrome" ; + skos:exactMatch UMLS:C4310793 ; biolink:category biolink:Disease . OMIM:616922 a owl:Class ; rdfs:label "striatal degeneration, autosomal dominant 2" ; IAO:0000142 PMID:27058447 ; - oboInOwl:hasDbXref UMLS:C4310791 ; oboInOwl:hasExactSynonym "ADSD2", "striatal degeneration, autosomal dominant 2" ; rdfs:subClassOf OMIMPS:609161 ; + skos:exactMatch UMLS:C4310791 ; biolink:category biolink:Disease . OMIM:616924 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2cc" ; IAO:0000142 PMID:27040688 ; - oboInOwl:hasDbXref UMLS:C4310790 ; oboInOwl:hasExactSynonym "CMT2CC", "charcot-marie-tooth disease, axonal, iia 2cc", "charcot-marie-tooth neuropathy, iia 2cc" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4310790 ; biolink:category biolink:Disease . OMIM:616939 a owl:Class ; @@ -459591,32 +476291,18 @@ OMIM:616939 a owl:Class ; IAO:0000142 PMID:23064379, PMID:26188600, PMID:27123486 ; - oboInOwl:hasDbXref UMLS:C4310787 ; oboInOwl:hasExactSynonym "COCPMR", "chorea, childhood-onset, with psychomotor retardation" ; - biolink:category biolink:Disease . - -OMIM:616941 a owl:Class ; - rdfs:label "agammaglobulinemia 8, autosomal dominant" ; - IAO:0000142 PMID:21693761, - PMID:24216514, - PMID:8001124, - PMID:8001125, - PMID:8001126 ; - oboInOwl:hasDbXref UMLS:C4310786 ; - oboInOwl:hasExactSynonym "AGM8", - "agammaglobulinemia 8, autosomal dominant", - "agammaglobulinemia, autosomal dominant, due to tcf3 defect" ; - rdfs:subClassOf OMIMPS:601495 ; + skos:exactMatch UMLS:C4310787 ; biolink:category biolink:Disease . OMIM:616943 a owl:Class ; rdfs:label "trichothiodystrophy 6, nonphotosensitive" ; IAO:0000142 PMID:26996949 ; - oboInOwl:hasDbXref UMLS:C4310785 ; oboInOwl:hasExactSynonym "TTD6", "trichothiodystrophy 6, nonphotosensitive" ; rdfs:subClassOf OMIMPS:601675 ; + skos:exactMatch UMLS:C4310785 ; biolink:category biolink:Disease . OMIM:616944 a owl:Class ; @@ -459628,74 +476314,74 @@ OMIM:616944 a owl:Class ; PMID:25102098, PMID:25425123, PMID:27133561 ; - oboInOwl:hasDbXref UMLS:C4310784 ; oboInOwl:hasExactSynonym "MRD41", "mental retardation, autosomal dominant 41" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4310784 ; biolink:category biolink:Disease . OMIM:616948 a owl:Class ; rdfs:label "spinocerebellar ataxia, autosomal recessive 22" ; IAO:0000142 PMID:26157035 ; - oboInOwl:hasDbXref UMLS:C4310781 ; oboInOwl:hasExactSynonym "SCAR22", "spinocerebellar ataxia, autosomal recessive 22" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4310781 ; biolink:category biolink:Disease . OMIM:616949 a owl:Class ; rdfs:label "spinocerebellar ataxia, autosomal recessive 23" ; IAO:0000142 PMID:24658003, PMID:30109272 ; - oboInOwl:hasDbXref UMLS:C4310780 ; oboInOwl:hasExactSynonym "SCAR23", "spinocerebellar ataxia, autosomal recessive 23" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4310780 ; biolink:category biolink:Disease . OMIM:616950 a owl:Class ; rdfs:label "spermatogenic failure 15" ; IAO:0000142 PMID:25899990, PMID:26203179 ; - oboInOwl:hasDbXref UMLS:C4310779 ; oboInOwl:hasExactSynonym "SPGF15", "spermatogenic failure 15" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4310779 ; biolink:category biolink:Disease . OMIM:616954 a owl:Class ; rdfs:label "you-hoover-fong syndrome" ; IAO:0000142 PMID:27132593 ; - oboInOwl:hasDbXref UMLS:C4310778 ; oboInOwl:hasExactSynonym "YHFS", "you-hoover-fong syndrome" ; + skos:exactMatch UMLS:C4310778 ; biolink:category biolink:Disease . OMIM:616968 a owl:Class ; rdfs:label "deafness, autosomal dominant 70" ; IAO:0000142 PMID:26196677 ; - oboInOwl:hasDbXref UMLS:C4310775 ; oboInOwl:hasExactSynonym "DFNA70", "deafness, autosomal dominant 70" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4310775 ; biolink:category biolink:Disease . OMIM:616969 a owl:Class ; rdfs:label "deafness, autosomal dominant 66" ; IAO:0000142 PMID:26197441 ; - oboInOwl:hasDbXref UMLS:C4283893 ; oboInOwl:hasExactSynonym "DFNA66", "deafness, autosomal dominant 66" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4283893 ; biolink:category biolink:Disease . OMIM:616974 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 30" ; IAO:0000142 PMID:27132592 ; - oboInOwl:hasDbXref UMLS:C4310773 ; oboInOwl:hasExactSynonym "COXPD30", "combined oxidative phosphorylation deficiency 30" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4310773 ; biolink:category biolink:Disease . OMIM:616975 a owl:Class ; @@ -459705,9 +476391,9 @@ OMIM:616975 a owl:Class ; PMID:25961944, PMID:26350515, PMID:27087320 ; - oboInOwl:hasDbXref UMLS:C4310772 ; oboInOwl:hasExactSynonym "NEDBEH", "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" ; + skos:exactMatch UMLS:C4310772 ; biolink:category biolink:Disease . OMIM:616977 a owl:Class ; @@ -459716,10 +476402,10 @@ OMIM:616977 a owl:Class ; PMID:23020937, PMID:26153216, PMID:27003583 ; - oboInOwl:hasDbXref UMLS:C4310771 ; oboInOwl:hasExactSynonym "MRD43", "mental retardation, autosomal dominant 43" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4310771 ; biolink:category biolink:Disease . OMIM:616981 a owl:Class ; @@ -459727,11 +476413,11 @@ OMIM:616981 a owl:Class ; IAO:0000142 PMID:21147040, PMID:27236917, PMID:27239025 ; - oboInOwl:hasDbXref UMLS:C4310770 ; oboInOwl:hasExactSynonym "DEE37", "developmental and epileptic encephalopathy 37", "epileptic encephalopathy, early infantile, 37" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310770 ; biolink:category biolink:Disease . OMIM:617004 a owl:Class ; @@ -459739,19 +476425,19 @@ OMIM:617004 a owl:Class ; IAO:0000142 PMID:15133510, PMID:24886261, PMID:8591848 ; - oboInOwl:hasDbXref UMLS:C4310769 ; oboInOwl:hasExactSynonym "PCLD2", "polycystic liver disease 2 with or without kidney cysts" ; rdfs:subClassOf OMIMPS:174050 ; + skos:exactMatch UMLS:C4310769 ; biolink:category biolink:Disease . OMIM:617008 a owl:Class ; rdfs:label "cerebral palsy, spastic quadriplegic, 3" ; IAO:0000142 PMID:23836506 ; - oboInOwl:hasDbXref UMLS:C4310767 ; oboInOwl:hasExactSynonym "CPSQ3", "cerebral palsy, spastic quadriplegic, 3" ; rdfs:subClassOf OMIMPS:612900 ; + skos:exactMatch UMLS:C4310767 ; biolink:category biolink:Disease . OMIM:617011 a owl:Class ; @@ -459762,42 +476448,42 @@ OMIM:617011 a owl:Class ; PMID:26153217, PMID:27108999, PMID:27147983 ; - oboInOwl:hasDbXref UMLS:C4310766 ; oboInOwl:hasExactSynonym "MDFPMR", "macrocephaly, dysmorphic facies, and psychomotor retardation" ; + skos:exactMatch UMLS:C4310766 ; biolink:category biolink:Disease . OMIM:617013 a owl:Class ; rdfs:label "hypermanganesemia with dystonia 2" ; IAO:0000142 PMID:27231142, PMID:29685658 ; - oboInOwl:hasDbXref UMLS:C4310765, - ORPHA:521406 ; oboInOwl:hasExactSynonym "HMNDYT2", "hypermanganesemia with dystonia 2" ; rdfs:subClassOf OMIMPS:613280 ; + skos:exactMatch UMLS:C4310765, + ORPHA:521406 ; biolink:category biolink:Disease . OMIM:617014 a owl:Class ; rdfs:label "neutropenia, severe congenital, 7, autosomal recessive" ; IAO:0000142 PMID:24753537, PMID:26324699 ; - oboInOwl:hasDbXref UMLS:C4310764 ; oboInOwl:hasExactSynonym "SCN7", "neutropenia, severe congenital, 7, autosomal recessive" ; rdfs:subClassOf OMIMPS:202700 ; + skos:exactMatch UMLS:C4310764 ; biolink:category biolink:Disease . OMIM:617017 a owl:Class ; rdfs:label "charcot-marie-tooth disease, axonal, iia 2t" ; IAO:0000142 PMID:26991897, PMID:27588448 ; - oboInOwl:hasDbXref UMLS:C4015635 ; oboInOwl:hasExactSynonym "CMT2T", "charcot-marie-tooth disease, axonal, iia 2t", "charcot-marie-tooth disease, axonal, autosomal recessive, iia 2t", "charcot-marie-tooth neuropathy, iia 2t" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4015635 ; biolink:category biolink:Disease . OMIM:617020 a owl:Class ; @@ -459805,54 +476491,54 @@ OMIM:617020 a owl:Class ; IAO:0000142 PMID:25558065, PMID:27270415, PMID:32165008 ; - oboInOwl:hasDbXref UMLS:C4310762, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE38", "developmental and epileptic encephalopathy 38", "epileptic encephalopathy, early infantile, 38", "glycosylphosphatidylinositol biosynthesis defect 23" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310762, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:617023 a owl:Class ; rdfs:label "retinitis pigmentosa 75" ; IAO:0000142 PMID:26355662, PMID:26720455 ; - oboInOwl:hasDbXref UMLS:C4310759 ; oboInOwl:hasExactSynonym "RP75", "retinitis pigmentosa 75" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4310759 ; biolink:category biolink:Disease . OMIM:617025 a owl:Class ; rdfs:label "nevus comedonicus" ; IAO:0000142 PMID:23888253, PMID:27153399 ; - oboInOwl:hasDbXref UMLS:C0265987, - ORPHA:64754 ; oboInOwl:hasExactSynonym "NC", "nevus comedonicus" ; + skos:exactMatch UMLS:C0265987, + ORPHA:64754 ; biolink:category biolink:Disease . OMIM:617026 a owl:Class ; rdfs:label "pontocerebellar hypoplasia, iia 2f" ; IAO:0000142 PMID:25558065, PMID:27392077 ; - oboInOwl:hasDbXref UMLS:C4310757 ; oboInOwl:hasExactSynonym "PCH2F", "pontocerebellar hypoplasia, iia 2f" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C4310757 ; biolink:category biolink:Disease . OMIM:617028 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 54" ; IAO:0000142 PMID:23035106, PMID:27106596 ; - oboInOwl:hasDbXref UMLS:C4310755 ; oboInOwl:hasExactSynonym "MRT54", "intellectual developmental disorder, autosomal recessive 54", "mental retardation, autosomal recessive 54" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4310755 ; biolink:category biolink:Disease . OMIM:617030 a owl:Class ; @@ -459861,10 +476547,11 @@ OMIM:617030 a owl:Class ; PMID:28268051, PMID:32331917, PMID:32646962 ; - oboInOwl:hasDbXref UMLS:C4310754, - ORPHA:482601 ; oboInOwl:hasExactSynonym "MPD5", "myopathy, distal, 5" ; + rdfs:subClassOf OMIMPS:160500 ; + skos:exactMatch UMLS:C4310754, + ORPHA:482601 ; biolink:category biolink:Disease . OMIM:617035 a owl:Class ; @@ -459872,10 +476559,10 @@ OMIM:617035 a owl:Class ; IAO:0000142 PMID:15684060, PMID:18752453, PMID:21643846 ; - oboInOwl:hasDbXref UMLS:C4284595 ; oboInOwl:hasExactSynonym "PDA2", "patent ductus arteriosus 2" ; rdfs:subClassOf OMIMPS:607411 ; + skos:exactMatch UMLS:C4284595 ; biolink:category biolink:Disease . OMIM:617039 a owl:Class ; @@ -459883,20 +476570,20 @@ OMIM:617039 a owl:Class ; IAO:0000142 PMID:22414880, PMID:27181681, PMID:5897316 ; - oboInOwl:hasDbXref UMLS:C4310753 ; oboInOwl:hasExactSynonym "PDA3", "patent ductus arteriosus 3" ; rdfs:subClassOf OMIMPS:607411 ; + skos:exactMatch UMLS:C4310753 ; biolink:category biolink:Disease . OMIM:617044 a owl:Class ; rdfs:label "short stature, developmental delay, and congenital heart defects" ; IAO:0000142 PMID:27259054 ; - oboInOwl:hasDbXref UMLS:C4310751 ; oboInOwl:hasExactSynonym "SDDHD", "short stature, developmental delay, and congenital heart defects", "tkt deficiency", "transketolase deficiency" ; + skos:exactMatch UMLS:C4310751 ; biolink:category biolink:Disease . OMIM:617046 a owl:Class ; @@ -459904,30 +476591,30 @@ OMIM:617046 a owl:Class ; IAO:0000142 PMID:25851414, PMID:26553276, PMID:29126765 ; - oboInOwl:hasDbXref UMLS:C4310750 ; oboInOwl:hasExactSynonym "SPG77", "spastic paraplegia 77, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C4310750 ; biolink:category biolink:Disease . OMIM:617049 a owl:Class ; rdfs:label "cholestasis, progressive familial intrahepatic, 5" ; IAO:0000142 PMID:21633855, PMID:26888176 ; - oboInOwl:hasDbXref UMLS:C4310747 ; oboInOwl:hasExactSynonym "PFIC5", "cholestasis, progressive familial intrahepatic, 5" ; rdfs:subClassOf OMIMPS:211600 ; + skos:exactMatch UMLS:C4310747 ; biolink:category biolink:Disease . OMIM:617050 a owl:Class ; rdfs:label "hermansky-pudlak syndrome 10" ; IAO:0000142 PMID:26744459, PMID:9697856 ; - oboInOwl:hasDbXref UMLS:C4310746 ; oboInOwl:hasExactSynonym "HPS10", "hermansky-pudlak syndrome 10" ; rdfs:subClassOf OMIMPS:203300 ; + skos:exactMatch UMLS:C4310746 ; biolink:category biolink:Disease . OMIM:617051 a owl:Class ; @@ -459936,11 +476623,11 @@ OMIM:617051 a owl:Class ; PMID:28454995, PMID:30308082, PMID:32056211 ; - oboInOwl:hasDbXref UMLS:C4310745, - ORPHA:488627 ; oboInOwl:hasExactSynonym "NEDMIGS", "mental retardation, autosomal recessive 55, formerly", "neurodevelopmental disorder with microcephaly and gray sclerae" ; + skos:exactMatch UMLS:C4310745, + ORPHA:488627 ; biolink:category biolink:Disease . OMIM:617052 a owl:Class ; @@ -459948,31 +476635,31 @@ OMIM:617052 a owl:Class ; IAO:0000142 PMID:27346687, PMID:28062395, PMID:29700810 ; - oboInOwl:hasDbXref UMLS:C4310744 ; oboInOwl:hasExactSynonym "BMFS3", "bone marrow failure syndrome 3" ; rdfs:subClassOf OMIMPS:614675 ; + skos:exactMatch UMLS:C4310744 ; biolink:category biolink:Disease . OMIM:617054 a owl:Class ; rdfs:label "striatonigral degeneration, childhood-onset" ; IAO:0000142 PMID:27292112 ; - oboInOwl:hasDbXref UMLS:C4310743, - ORPHA:497906 ; oboInOwl:hasExactSynonym "SNDC", "lenk-ploski syndrome", "striatonigral degeneration, childhood-onset" ; rdfs:subClassOf OMIMPS:271930 ; + skos:exactMatch UMLS:C4310743, + ORPHA:497906 ; biolink:category biolink:Disease . OMIM:617056 a owl:Class ; rdfs:label "tubulointerstitial kidney disease, autosomal dominant, 5" ; IAO:0000142 PMID:27392076 ; - oboInOwl:hasDbXref UMLS:C4310741 ; oboInOwl:hasExactSynonym "ADTKD5", "hyperuricemic nephropathy, familial juvenile, 4", "tubulointerstitial kidney disease, autosomal dominant, 5" ; rdfs:subClassOf OMIMPS:162000 ; + skos:exactMatch UMLS:C4310741 ; biolink:category biolink:Disease . OMIM:617062 a owl:Class ; @@ -459982,39 +476669,39 @@ OMIM:617062 a owl:Class ; PMID:29240241, PMID:29383814, PMID:29619237 ; - oboInOwl:hasDbXref UMLS:C4310739 ; oboInOwl:hasExactSynonym "OCNDS", "okur-chung neurodevelopmental syndrome" ; + skos:exactMatch UMLS:C4310739 ; biolink:category biolink:Disease . OMIM:617063 a owl:Class ; rdfs:label "meier-gorlin syndrome 7" ; IAO:0000142 PMID:27374770 ; - oboInOwl:hasDbXref UMLS:C4310738 ; oboInOwl:hasExactSynonym "MGORS7", "meier-gorlin syndrome 7" ; rdfs:subClassOf OMIMPS:224690 ; + skos:exactMatch UMLS:C4310738 ; biolink:category biolink:Disease . OMIM:617065 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 40" ; IAO:0000142 PMID:26486472 ; - oboInOwl:hasDbXref UMLS:C4310737, - ORPHA:3451 ; oboInOwl:hasExactSynonym "DEE40", "developmental and epileptic encephalopathy 40", "epileptic encephalopathy, early infantile, 40" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310737, + ORPHA:3451 ; biolink:category biolink:Disease . OMIM:617070 a owl:Class ; rdfs:label "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4" ; IAO:0000142 PMID:23043144 ; - oboInOwl:hasDbXref UMLS:C4310733 ; oboInOwl:hasExactSynonym "PEOB4", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4", "progressive external ophthalmoplegia, autosomal recessive 4" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C4310733 ; biolink:category biolink:Disease . OMIM:617072 a owl:Class ; @@ -460022,40 +476709,40 @@ OMIM:617072 a owl:Class ; IAO:0000142 PMID:24856141, PMID:25193335, PMID:25193337 ; - oboInOwl:hasDbXref UMLS:C4310731 ; oboInOwl:hasExactSynonym "MRRSDC", "muscular dystrophy, limb-girdle, iia 2y", "myopathy, autosomal recessive, with rigid spine and distal joint contractures" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C4310731 ; biolink:category biolink:Disease . OMIM:617073 a owl:Class ; rdfs:label "tooth agenesis, selective, 8" ; IAO:0000142 PMID:27321946 ; - oboInOwl:hasDbXref UMLS:C4310730 ; oboInOwl:hasExactSynonym "STHAG8", "tooth agenesis, selective, 8" ; rdfs:subClassOf OMIMPS:106600 ; + skos:exactMatch UMLS:C4310730 ; biolink:category biolink:Disease . OMIM:617075 a owl:Class ; rdfs:label "nasopharyngeal carcinoma, susceptibility to, 3" ; IAO:0000142 PMID:26951679 ; - oboInOwl:hasDbXref UMLS:C4310729 ; oboInOwl:hasExactSynonym "NPCA3", "nasopharyngeal carcinoma, susceptibility to, 3" ; + skos:exactMatch UMLS:C4310729 ; biolink:category biolink:Disease . OMIM:617080 a owl:Class ; rdfs:label "seizures, benign familial infantile, 5" ; IAO:0000142 PMID:26677014, PMID:27210545 ; - oboInOwl:hasDbXref UMLS:C4310728, - ORPHA:306 ; oboInOwl:hasExactSynonym "BFIS5", "convulsions, benign familial infantile, 5", "seizures, benign familial infantile, 5" ; rdfs:subClassOf OMIMPS:601764 ; + skos:exactMatch UMLS:C4310728, + ORPHA:306 ; biolink:category biolink:Disease . OMIM:617086 a owl:Class ; @@ -460063,10 +476750,10 @@ OMIM:617086 a owl:Class ; IAO:0000142 PMID:22499341, PMID:26783368, PMID:32181496 ; - oboInOwl:hasDbXref UMLS:C4310726 ; oboInOwl:hasExactSynonym "EMPF2", "encephalopathy due to defective mitochondrial and peroxisomal fission 2" ; rdfs:subClassOf OMIMPS:614388 ; + skos:exactMatch UMLS:C4310726 ; biolink:category biolink:Disease . OMIM:617088 a owl:Class ; @@ -460078,10 +476765,10 @@ OMIM:617088 a owl:Class ; PMID:26130459, PMID:28857138, PMID:8960501 ; - oboInOwl:hasDbXref UMLS:C4310724 ; oboInOwl:hasExactSynonym "SRTD15", "short-rib thoracic dysplasia 15 with polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C4310724 ; biolink:category biolink:Disease . OMIM:617090 a owl:Class ; @@ -460091,60 +476778,60 @@ OMIM:617090 a owl:Class ; PMID:27453579, PMID:27503289, PMID:27519304 ; - oboInOwl:hasDbXref UMLS:C4310723, - ORPHA:2512 ; oboInOwl:hasExactSynonym "MCPH17", "microcephaly 17, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4310723, + ORPHA:2512 ; biolink:category biolink:Disease . OMIM:617091 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 34" ; IAO:0000142 PMID:27486783 ; - oboInOwl:hasDbXref UMLS:C4310722 ; oboInOwl:hasExactSynonym "CILD34", "ciliary dyskinesia, primary, 34", "ciliary dyskinesia, primary, 34, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4310722 ; biolink:category biolink:Disease . OMIM:617092 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 35" ; IAO:0000142 PMID:27486780 ; - oboInOwl:hasDbXref UMLS:C4310721 ; oboInOwl:hasExactSynonym "CILD35", "ciliary dyskinesia, primary, 35", "ciliary dyskinesia, primary, 35, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4310721 ; biolink:category biolink:Disease . OMIM:617093 a owl:Class ; rdfs:label "growth retardation, impaired intellectual development, hypotonia, and hepatopathy" ; IAO:0000142 PMID:27426735, PMID:27891590 ; - oboInOwl:hasDbXref UMLS:C4310720 ; oboInOwl:hasExactSynonym "GRIDHH", "growth retardation, impaired intellectual development, hypotonia, and hepatopathy" ; + skos:exactMatch UMLS:C4310720 ; biolink:category biolink:Disease . OMIM:617099 a owl:Class ; rdfs:label "autoinflammation, panniculitis, and dermatosis syndrome" ; IAO:0000142 PMID:27523608, PMID:27559085 ; - oboInOwl:hasDbXref UMLS:C4310614 ; oboInOwl:hasExactSynonym "AIPDS", "autoinflammation, panniculitis, and dermatosis syndrome", "otulin-related autoinflammatory syndrome", "otulipenia" ; + skos:exactMatch UMLS:C4310614 ; biolink:category biolink:Disease . OMIM:617100 a owl:Class ; rdfs:label "familial adenomatous polyposis 4" ; IAO:0000142 PMID:27476653 ; - oboInOwl:hasDbXref UMLS:C4310719 ; oboInOwl:hasExactSynonym "FAP4", "familial adenomatous polyposis 4" ; rdfs:subClassOf OMIMPS:175100 ; + skos:exactMatch UMLS:C4310719 ; biolink:category biolink:Disease . OMIM:617101 a owl:Class ; @@ -460152,10 +476839,10 @@ OMIM:617101 a owl:Class ; IAO:0000142 PMID:22542183, PMID:25533962, PMID:27453576 ; - oboInOwl:hasDbXref UMLS:C4310833 ; oboInOwl:hasExactSynonym "dias-logan syndrome", "intellectual developmental disorder with hereditary persistence of fetal hemoglobin", "intellectual developmental disorder with persistence of fetal hemoglobin" ; + skos:exactMatch UMLS:C4310833 ; biolink:category biolink:Disease . OMIM:617102 a owl:Class ; @@ -460166,11 +476853,11 @@ OMIM:617102 a owl:Class ; PMID:27466190, PMID:30242358, PMID:31042281 ; - oboInOwl:hasDbXref UMLS:C4310718, - ORPHA:1515 ; oboInOwl:hasExactSynonym "SRTD16", "short-rib thoracic dysplasia 16 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C4310718, + ORPHA:1515 ; biolink:category biolink:Disease . OMIM:617105 a owl:Class ; @@ -460178,22 +476865,22 @@ OMIM:617105 a owl:Class ; IAO:0000142 PMID:23934111, PMID:27476654, PMID:28777935 ; - oboInOwl:hasDbXref UMLS:C4310717, - ORPHA:1935, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE41", "developmental and epileptic encephalopathy 41", "epileptic encephalopathy, early infantile, 41" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310717, + ORPHA:1935, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:617107 a owl:Class ; rdfs:label "thauvin-robinet-faivre syndrome" ; IAO:0000142 PMID:26660953, PMID:27183861 ; - oboInOwl:hasDbXref UMLS:C4310715 ; oboInOwl:hasExactSynonym "TROFAS", "thauvin-robinet-faivre syndrome" ; + skos:exactMatch UMLS:C4310715 ; biolink:category biolink:Disease . OMIM:617108 a owl:Class ; @@ -460202,20 +476889,20 @@ OMIM:617108 a owl:Class ; PMID:24512911, PMID:24583756, PMID:27081527 ; - oboInOwl:hasDbXref UMLS:C4310714 ; oboInOwl:hasExactSynonym "SSPCS", "sessile serrated polyposis cancer syndrome" ; + skos:exactMatch UMLS:C4310714 ; biolink:category biolink:Disease . OMIM:617111 a owl:Class ; rdfs:label "macular dystrophy, patterned, 3" ; IAO:0000142 PMID:23370609, PMID:26744326 ; - oboInOwl:hasDbXref UMLS:C4310713 ; oboInOwl:hasExactSynonym "MDPT3", "macular dystrophy, patterned, 3", "martinique crinkled retinal pigment epitheliopathy" ; rdfs:subClassOf OMIMPS:169150 ; + skos:exactMatch UMLS:C4310713 ; biolink:category biolink:Disease . OMIM:617114 a owl:Class ; @@ -460224,29 +476911,29 @@ OMIM:617114 a owl:Class ; PMID:27484770, PMID:27485408, PMID:30591934 ; - oboInOwl:hasDbXref UMLS:C4310711 ; oboInOwl:hasExactSynonym "MFM7", "myopathy, myofibrillar, 7" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C4310711 ; biolink:category biolink:Disease . OMIM:617115 a owl:Class ; rdfs:label "peeling skin syndrome 5" ; IAO:0000142 PMID:27476651 ; - oboInOwl:hasDbXref UMLS:C4310710 ; oboInOwl:hasExactSynonym "PSS5", "peeling skin syndrome 5" ; rdfs:subClassOf OMIMPS:270300 ; + skos:exactMatch UMLS:C4310710 ; biolink:category biolink:Disease . OMIM:617116 a owl:Class ; rdfs:label "epilepsy, familial focal, with variable foci 2" ; IAO:0000142 PMID:26505888, PMID:27173016 ; - oboInOwl:hasDbXref UMLS:C4310709 ; oboInOwl:hasExactSynonym "FFEVF2", "epilepsy, familial focal, with variable foci 2" ; rdfs:subClassOf OMIMPS:604364 ; + skos:exactMatch UMLS:C4310709 ; biolink:category biolink:Disease . OMIM:617118 a owl:Class ; @@ -460254,60 +476941,60 @@ OMIM:617118 a owl:Class ; IAO:0000142 PMID:26285051, PMID:26505888, PMID:27173016 ; - oboInOwl:hasDbXref UMLS:C4310708 ; oboInOwl:hasExactSynonym "FFEVF3", "epilepsy, familial focal, with variable foci 3" ; rdfs:subClassOf OMIMPS:604364 ; + skos:exactMatch UMLS:C4310708 ; biolink:category biolink:Disease . OMIM:617120 a owl:Class ; rdfs:label "joubert syndrome 27" ; IAO:0000142 PMID:24886560 ; - oboInOwl:hasDbXref UMLS:C4310706 ; oboInOwl:hasExactSynonym "JBTS27", "joubert syndrome 27" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4310706 ; biolink:category biolink:Disease . OMIM:617123 a owl:Class ; rdfs:label "retinitis pigmentosa 76" ; IAO:0000142 PMID:26908613, PMID:27391550 ; - oboInOwl:hasDbXref UMLS:C4310704 ; oboInOwl:hasExactSynonym "RP76", "retinitis pigmentosa 76" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4310704 ; biolink:category biolink:Disease . OMIM:617125 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 56" ; IAO:0000142 PMID:21734151 ; - oboInOwl:hasDbXref UMLS:C4310703 ; oboInOwl:hasExactSynonym "MRT56", "intellectual developmental disorder, autosomal recessive 56", "mental retardation, autosomal recessive 56" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4310703 ; biolink:category biolink:Disease . OMIM:617126 a owl:Class ; rdfs:label "alazami-yuan syndrome" ; IAO:0000142 PMID:25558065, PMID:25574841 ; - oboInOwl:hasDbXref UMLS:C4310702 ; oboInOwl:hasExactSynonym "ALYUS", "alazami-yuan syndrome" ; + skos:exactMatch UMLS:C4310702 ; biolink:category biolink:Disease . OMIM:617132 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 44" ; IAO:0000142 PMID:27545674, PMID:27545681 ; - oboInOwl:hasDbXref UMLS:C4310700, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE44", "developmental and epileptic encephalopathy 44", "epileptic encephalopathy, early infantile, 44" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310700, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:617137 a owl:Class ; @@ -460316,11 +477003,11 @@ OMIM:617137 a owl:Class ; PMID:12503106, PMID:25899317, PMID:27426733 ; - oboInOwl:hasDbXref UMLS:C4310697, - ORPHA:1826 ; oboInOwl:hasExactSynonym "FMD2", "frontometaphyseal dysplasia 2" ; rdfs:subClassOf OMIMPS:305620 ; + skos:exactMatch UMLS:C4310697, + ORPHA:1826 ; biolink:category biolink:Disease . OMIM:617140 a owl:Class ; @@ -460329,11 +477016,11 @@ OMIM:617140 a owl:Class ; PMID:27256762, PMID:27545676, PMID:27545680 ; - oboInOwl:hasDbXref UMLS:C4310696 ; oboInOwl:hasExactSynonym "ZTTKS", "zhu-tokita-takenouchi-kim syndrome", "zttk multiple congenital anomalies-mental retardation syndrome", "zttk syndrome" ; + skos:exactMatch UMLS:C4310696 ; biolink:category biolink:Disease . OMIM:617141 a owl:Class ; @@ -460348,19 +477035,19 @@ OMIM:617141 a owl:Class ; PMID:8032206, PMID:8825052, PMID:9132491 ; - oboInOwl:hasDbXref UMLS:C0344543 ; oboInOwl:hasExactSynonym "AN2", "aniridia 2" ; rdfs:subClassOf OMIMPS:106210 ; + skos:exactMatch UMLS:C0344543 ; biolink:category biolink:Disease . OMIM:617142 a owl:Class ; rdfs:label "aniridia 3" ; IAO:0000142 PMID:26394807 ; - oboInOwl:hasDbXref UMLS:C4310695 ; oboInOwl:hasExactSynonym "AN3", "aniridia 3" ; rdfs:subClassOf OMIMPS:106210 ; + skos:exactMatch UMLS:C4310695 ; biolink:category biolink:Disease . OMIM:617146 a owl:Class ; @@ -460369,9 +477056,9 @@ OMIM:617146 a owl:Class ; PMID:27653382, PMID:27843126, PMID:27974811 ; - oboInOwl:hasDbXref UMLS:C4310692 ; oboInOwl:hasExactSynonym "DAIPT", "arthrogryposis, distal, with impaired proprioception and touch" ; + skos:exactMatch UMLS:C4310692 ; biolink:category biolink:Disease . OMIM:617153 a owl:Class ; @@ -460380,22 +477067,22 @@ OMIM:617153 a owl:Class ; PMID:26950270, PMID:27273810, PMID:31618474 ; - oboInOwl:hasDbXref UMLS:C4310691, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE45", "developmental and epileptic encephalopathy 45", "epileptic encephalopathy, early infantile, 45" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310691, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:617156 a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" ; IAO:0000142 PMID:27448789, PMID:9500544 ; - oboInOwl:hasDbXref UMLS:C4310690 ; oboInOwl:hasExactSynonym "MTDPS15", "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C4310690 ; biolink:category biolink:Disease . OMIM:617157 a owl:Class ; @@ -460403,41 +477090,41 @@ OMIM:617157 a owl:Class ; IAO:0000142 PMID:26437029, PMID:27718516, PMID:30513135 ; - oboInOwl:hasDbXref UMLS:C4310689, - ORPHA:464288 ; oboInOwl:hasExactSynonym "SBIDDS", "short stature, brachydactyly, impaired intellectual development, and seizures" ; + skos:exactMatch UMLS:C4310689, + ORPHA:464288 ; biolink:category biolink:Disease . OMIM:617159 a owl:Class ; rdfs:label "sifrim-hitz-weiss syndrome" ; IAO:0000142 PMID:27479907, PMID:27616479 ; - oboInOwl:hasDbXref UMLS:C4310688 ; oboInOwl:hasExactSynonym "SIHIWES", "sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome", "sifrim-hitz-weiss syndrome" ; + skos:exactMatch UMLS:C4310688 ; biolink:category biolink:Disease . OMIM:617162 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 46" ; IAO:0000142 PMID:27616483, PMID:30280376 ; - oboInOwl:hasDbXref UMLS:C4310687, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE46", "developmental and epileptic encephalopathy 46", "epileptic encephalopathy, early infantile, 46" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310687, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:617164 a owl:Class ; rdfs:label "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" ; IAO:0000142 PMID:27476655, PMID:9021021 ; - oboInOwl:hasDbXref UMLS:C4310686 ; oboInOwl:hasExactSynonym "SRMMD", "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" ; + skos:exactMatch UMLS:C4310686 ; biolink:category biolink:Disease . OMIM:617166 a owl:Class ; @@ -460445,50 +477132,50 @@ OMIM:617166 a owl:Class ; IAO:0000142 PMID:27164707, PMID:27830185, PMID:27872899 ; - oboInOwl:hasDbXref UMLS:C4310685, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE47", "developmental and epileptic encephalopathy 47", "epileptic encephalopathy, early infantile, 47" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310685, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:617168 a owl:Class ; rdfs:label "aortic aneurysm, familial thoracic 10" ; IAO:0000142 PMID:26838787, PMID:27432961 ; - oboInOwl:hasDbXref UMLS:C4284414 ; oboInOwl:hasExactSynonym "AAT10", "aortic aneurysm, familial thoracic 10", "aortic aneurysm, thoracic, with or without aortic dissection" ; rdfs:subClassOf OMIMPS:607086 ; + skos:exactMatch UMLS:C4284414 ; biolink:category biolink:Disease . OMIM:617169 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 74" ; IAO:0000142 PMID:25753423 ; - oboInOwl:hasDbXref UMLS:C4310684 ; oboInOwl:hasExactSynonym "MRT74", "intellectual developmental disorder, autosomal recessive 74", "sotos syndrome 3, formerly" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4310684 ; biolink:category biolink:Disease . OMIM:617174 a owl:Class ; rdfs:label "ehlers-danlos syndrome, periodontal type, 2" ; IAO:0000142 PMID:27745832 ; - oboInOwl:hasDbXref UMLS:C4310681 ; oboInOwl:hasExactSynonym "EDSPD2", "ehlers-danlos syndrome, periodontal type, 2" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C4310681 ; biolink:category biolink:Disease . OMIM:617175 a owl:Class ; rdfs:label "retinal dystrophy with or without extraocular anomalies" ; IAO:0000142 PMID:27486781 ; - oboInOwl:hasDbXref UMLS:C4310680 ; oboInOwl:hasExactSynonym "RDEOA", "retinal dystrophy with or without extraocular anomalies" ; + skos:exactMatch UMLS:C4310680 ; biolink:category biolink:Disease . OMIM:617182 a owl:Class ; @@ -460497,40 +477184,40 @@ OMIM:617182 a owl:Class ; PMID:21766168, PMID:27523599, PMID:27677260 ; - oboInOwl:hasDbXref UMLS:C4310678 ; oboInOwl:hasExactSynonym "LADCI", "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" ; + skos:exactMatch UMLS:C4310678 ; biolink:category biolink:Disease . OMIM:617186 a owl:Class ; rdfs:label "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1" ; IAO:0000142 PMID:27122014, PMID:27616477 ; - oboInOwl:hasDbXref UMLS:C4310675 ; oboInOwl:hasExactSynonym "PEBEL1", "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1", "pebel" ; rdfs:subClassOf OMIMPS:617186 ; + skos:exactMatch UMLS:C4310675 ; biolink:category biolink:Disease . OMIM:617187 a owl:Class ; rdfs:label "spermatogenic failure 16" ; IAO:0000142 PMID:27640305 ; - oboInOwl:hasDbXref UMLS:C4310674 ; oboInOwl:hasExactSynonym "SPGF16", "acephalic spermatozoa syndrome", "spermatogenic failure 16" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4310674 ; biolink:category biolink:Disease . OMIM:617188 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 57" ; IAO:0000142 PMID:23097495, PMID:27616480 ; - oboInOwl:hasDbXref UMLS:C4310673 ; oboInOwl:hasExactSynonym "MRT57", "intellectual developmental disorder, autosomal recessive 57" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4310673 ; biolink:category biolink:Disease . OMIM:617190 a owl:Class ; @@ -460538,37 +477225,37 @@ OMIM:617190 a owl:Class ; IAO:0000142 PMID:19270745, PMID:26051940, PMID:27693232 ; - oboInOwl:hasDbXref UMLS:C4310672 ; oboInOwl:hasExactSynonym "SHAPNS", "shashi-pena syndrome" ; + skos:exactMatch UMLS:C4310672 ; biolink:category biolink:Disease . OMIM:617193 a owl:Class ; rdfs:label "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" ; IAO:0000142 PMID:27666370, PMID:27666374 ; - oboInOwl:hasDbXref UMLS:C4310671, - ORPHA:496641 ; oboInOwl:hasExactSynonym "PEBAT", "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" ; + skos:exactMatch UMLS:C4310671, + ORPHA:496641 ; biolink:category biolink:Disease . OMIM:617194 a owl:Class ; rdfs:label "lethal congenital contracture syndrome 11" ; IAO:0000142 PMID:27616481 ; - oboInOwl:hasDbXref UMLS:C4310670 ; oboInOwl:hasExactSynonym "LCCS11", "lethal congenital contracture syndrome 11" ; rdfs:subClassOf OMIMPS:253310 ; + skos:exactMatch UMLS:C4310670 ; biolink:category biolink:Disease . OMIM:617201 a owl:Class ; rdfs:label "periventricular nodular heterotopia 7" ; IAO:0000142 PMID:27694961 ; - oboInOwl:hasDbXref UMLS:C4310669 ; oboInOwl:hasExactSynonym "PVNH7", "periventricular nodular heterotopia 7" ; rdfs:subClassOf OMIMPS:300049 ; + skos:exactMatch UMLS:C4310669 ; biolink:category biolink:Disease . OMIM:617205 a owl:Class ; @@ -460576,77 +477263,77 @@ OMIM:617205 a owl:Class ; IAO:0000142 PMID:21307093, PMID:27272319, PMID:27616478 ; - oboInOwl:hasDbXref UMLS:C4310668 ; oboInOwl:hasExactSynonym "HTX8", "heterotaxy, visceral, 8, autosomal" ; rdfs:subClassOf OMIMPS:306955 ; + skos:exactMatch UMLS:C4310668 ; biolink:category biolink:Disease . OMIM:617213 a owl:Class ; rdfs:label "sedoheptulokinase deficiency" ; IAO:0000142 PMID:25647543 ; - oboInOwl:hasDbXref UMLS:C1291373 ; oboInOwl:hasExactSynonym "SHPKD", "sedoheptulokinase deficiency" ; + skos:exactMatch UMLS:C1291373 ; biolink:category biolink:Disease . OMIM:617214 a owl:Class ; rdfs:label "spermatogenic failure 17" ; IAO:0000142 PMID:26721930, PMID:31463947 ; - oboInOwl:hasDbXref UMLS:C4310666 ; oboInOwl:hasExactSynonym "SPGF17", "male infertility due to oocyte activation failure", "spermatogenic failure 17" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4310666 ; biolink:category biolink:Disease . OMIM:617217 a owl:Class ; rdfs:label "amelogenesis imperfecta, hypomaturation type, iia6" ; IAO:0000142 PMID:27693231, PMID:3150442 ; - oboInOwl:hasDbXref UMLS:C4310665 ; oboInOwl:hasExactSynonym "AI2A6", "amelogenesis imperfecta, hypomaturation type, iia6" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C4310665 ; biolink:category biolink:Disease . OMIM:617222 a owl:Class ; rdfs:label "sudden cardiac failure, infantile" ; IAO:0000142 PMID:27523597, PMID:27523598 ; - oboInOwl:hasDbXref UMLS:C4310664 ; oboInOwl:hasExactSynonym "SCFI", "sudden cardiac failure, infantile" ; + skos:exactMatch UMLS:C4310664 ; biolink:category biolink:Disease . OMIM:617225 a owl:Class ; rdfs:label "spastic paraplegia 78, autosomal recessive" ; IAO:0000142 PMID:27217339, PMID:28137957 ; - oboInOwl:hasDbXref UMLS:C4310662, - ORPHA:513436 ; oboInOwl:hasExactSynonym "SPG78", "spastic paraplegia 78, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C4310662, + ORPHA:513436 ; biolink:category biolink:Disease . OMIM:617228 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 31" ; IAO:0000142 PMID:27799064 ; - oboInOwl:hasDbXref UMLS:C4310661 ; oboInOwl:hasExactSynonym "COXPD31", "combined oxidative phosphorylation deficiency 31" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4310661 ; biolink:category biolink:Disease . OMIM:617234 a owl:Class ; rdfs:label "preimplantation embryonic lethality 2" ; IAO:0000142 PMID:27545678 ; - oboInOwl:hasDbXref UMLS:C4310659 ; oboInOwl:hasExactSynonym "PREMBL2", "preimplantation embryonic lethality 2" ; rdfs:subClassOf OMIMPS:616814 ; + skos:exactMatch UMLS:C4310659 ; biolink:category biolink:Disease . OMIM:617236 a owl:Class ; @@ -460654,233 +477341,233 @@ OMIM:617236 a owl:Class ; IAO:0000142 PMID:27588451, PMID:27588452, PMID:27627988 ; - oboInOwl:hasDbXref UMLS:C5193018 ; oboInOwl:hasExactSynonym "CRDHL1", "cone-rod dystrophy and hearing loss 1", "crdhl" ; rdfs:subClassOf OMIMPS:617236 ; + skos:exactMatch UMLS:C5193018 ; biolink:category biolink:Disease . OMIM:617238 a owl:Class ; rdfs:label "myopia 25, autosomal dominant" ; IAO:0000142 PMID:25741866 ; - oboInOwl:hasDbXref UMLS:C4310655 ; oboInOwl:hasExactSynonym "MYP25", "myopia 25, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C4310655 ; biolink:category biolink:Disease . OMIM:617239 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 21, presynaptic" ; IAO:0000142 PMID:20123977, PMID:27590285 ; - oboInOwl:hasDbXref UMLS:C4310654 ; oboInOwl:hasExactSynonym "CMS21", "myasthenic syndrome, congenital, 21, presynaptic" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4310654 ; biolink:category biolink:Disease . OMIM:617241 a owl:Class ; rdfs:label "lung disease, immunodeficiency, and chromosome breakage syndrome" ; IAO:0000142 PMID:27427983 ; - oboInOwl:hasDbXref UMLS:C4310653 ; oboInOwl:hasExactSynonym "LICS", "lung disease, immunodeficiency, and chromosome breakage syndrome" ; + skos:exactMatch UMLS:C4310653 ; biolink:category biolink:Disease . OMIM:617243 a owl:Class ; rdfs:label "fanconi anemia, complementation group 5" ; IAO:0000142 PMID:27500492 ; - oboInOwl:hasDbXref UMLS:C4310652 ; oboInOwl:hasExactSynonym "FANCV", "fanconi anemia, complementation group 5" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C4310652 ; biolink:category biolink:Disease . OMIM:617251 a owl:Class ; rdfs:label "uncombable hair syndrome 2" ; IAO:0000142 PMID:24183230, PMID:27866708 ; - oboInOwl:hasDbXref UMLS:C4310649 ; oboInOwl:hasExactSynonym "UHS2", "uncombable hair syndrome 2" ; + skos:exactMatch UMLS:C4310649 ; biolink:category biolink:Disease . OMIM:617252 a owl:Class ; rdfs:label "uncombable hair syndrome 3" ; IAO:0000142 PMID:27866708 ; - oboInOwl:hasDbXref UMLS:C4310648 ; oboInOwl:hasExactSynonym "UHS3", "uncombable hair syndrome 3" ; + skos:exactMatch UMLS:C4310648 ; biolink:category biolink:Disease . OMIM:617253 a owl:Class ; rdfs:label "seckel syndrome 10" ; IAO:0000142 PMID:25105364 ; - oboInOwl:hasDbXref UMLS:C4310647 ; oboInOwl:hasExactSynonym "SCKL10", "seckel syndrome 10" ; rdfs:subClassOf OMIMPS:210600 ; + skos:exactMatch UMLS:C4310647 ; biolink:category biolink:Disease . OMIM:617255 a owl:Class ; rdfs:label "lissencephaly 8" ; IAO:0000142 PMID:27773428 ; - oboInOwl:hasDbXref UMLS:C4310646 ; oboInOwl:hasExactSynonym "LIS8", "lissencephaly 8" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C4310646 ; biolink:category biolink:Disease . OMIM:617258 a owl:Class ; rdfs:label "myopathy, myofibrillar, 8" ; IAO:0000142 PMID:27745833 ; - oboInOwl:hasDbXref UMLS:C4310645 ; oboInOwl:hasExactSynonym "MFM8", "myopathy, myofibrillar, 8" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C4310645 ; biolink:category biolink:Disease . OMIM:617260 a owl:Class ; rdfs:label "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" ; IAO:0000142 PMID:27964749 ; - oboInOwl:hasDbXref UMLS:C4310644 ; oboInOwl:hasExactSynonym "GDACCF", "global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" ; + skos:exactMatch UMLS:C4310644 ; biolink:category biolink:Disease . OMIM:617268 a owl:Class ; rdfs:label "neurodevelopmental disorder with hypotonia, seizures, and absent language" ; IAO:0000142 PMID:27334371, PMID:27389779 ; - oboInOwl:hasDbXref UMLS:C4310643 ; oboInOwl:hasExactSynonym "NDHSAL", "neurodevelopmental disorder with hypotonia, seizures, and absent language" ; + skos:exactMatch UMLS:C4310643 ; biolink:category biolink:Disease . OMIM:617270 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 58" ; IAO:0000142 PMID:21937992, PMID:25847581 ; - oboInOwl:hasDbXref UMLS:C4310641 ; oboInOwl:hasExactSynonym "MRT58", "intellectual developmental disorder, autosomal recessive 58", "mental retardation, autosomal recessive 58" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4310641 ; biolink:category biolink:Disease . OMIM:617271 a owl:Class ; rdfs:label "nephronophthisis 20" ; IAO:0000142 PMID:28089251 ; - oboInOwl:hasDbXref UMLS:C4310640 ; oboInOwl:hasExactSynonym "NPHP20", "nephronophthisis 20" ; rdfs:subClassOf OMIMPS:256100 ; + skos:exactMatch UMLS:C4310640 ; biolink:category biolink:Disease . OMIM:617275 a owl:Class ; rdfs:label "tooth agenesis, selective, 9" ; IAO:0000142 PMID:23401279, PMID:26416033 ; - oboInOwl:hasDbXref UMLS:C4310638 ; oboInOwl:hasExactSynonym "STHAG9", "tooth agenesis, selective, 9" ; rdfs:subClassOf OMIMPS:106600 ; + skos:exactMatch UMLS:C4310638 ; biolink:category biolink:Disease . OMIM:617276 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 48" ; IAO:0000142 PMID:27431290, PMID:27889060 ; - oboInOwl:hasDbXref UMLS:C4310637, - ORPHA:1934 ; oboInOwl:hasExactSynonym "DEE48", "developmental and epileptic encephalopathy 48", "epileptic encephalopathy, early infantile, 48" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310637, + ORPHA:1934 ; biolink:category biolink:Disease . OMIM:617280 a owl:Class ; rdfs:label "atrial fibrillation, familial, 18" ; IAO:0000142 PMID:25807286, PMID:27066836 ; - oboInOwl:hasDbXref UMLS:C4310636 ; oboInOwl:hasExactSynonym "ATFB18", "atrial fibrillation, familial, 18" ; rdfs:subClassOf OMIMPS:608583 ; + skos:exactMatch UMLS:C4310636 ; biolink:category biolink:Disease . OMIM:617281 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 49" ; IAO:0000142 PMID:27431290, PMID:27866705 ; - oboInOwl:hasDbXref UMLS:C4310635 ; oboInOwl:hasExactSynonym "DEE49", "developmental and epileptic encephalopathy 49", "epileptic encephalopathy, early infantile, 49" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4310635 ; biolink:category biolink:Disease . OMIM:617282 a owl:Class ; rdfs:label "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" ; IAO:0000142 PMID:27817865 ; - oboInOwl:hasDbXref UMLS:C4310634 ; oboInOwl:hasExactSynonym "DYTOABG", "dystonia 29, childhood-onset", "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities", "mepan syndrome" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C4310634 ; biolink:category biolink:Disease . OMIM:617284 a owl:Class ; rdfs:label "dystonia 28, childhood-onset" ; IAO:0000142 PMID:27839873, PMID:27992417 ; - oboInOwl:hasDbXref UMLS:C4310633 ; oboInOwl:hasExactSynonym "DYT28", "dystonia 28, childhood-onset" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C4310633 ; biolink:category biolink:Disease . OMIM:617290 a owl:Class ; rdfs:label "epilepsy, early-onset, vitamin b6-dependent" ; IAO:0000142 PMID:27912044 ; - oboInOwl:hasDbXref UMLS:C4310632 ; oboInOwl:hasExactSynonym "EPVB6D", "epilepsy, early-onset, vitamin b6-dependent" ; + skos:exactMatch UMLS:C4310632 ; biolink:category biolink:Disease . OMIM:617294 a owl:Class ; rdfs:label "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" ; IAO:0000142 PMID:27798626, PMID:27889062 ; - oboInOwl:hasDbXref UMLS:C4310631 ; oboInOwl:hasExactSynonym "EBS6", "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss", "epidermolysis bullosa simplex, generalized, with scarring and hair loss" ; rdfs:subClassOf OMIMPS:131760 ; + skos:exactMatch UMLS:C4310631 ; biolink:category biolink:Disease . OMIM:617297 a owl:Class ; rdfs:label "amelogenesis imperfecta, iia 1j" ; IAO:0000142 PMID:27843125, PMID:3150442 ; - oboInOwl:hasDbXref UMLS:C4310630 ; oboInOwl:hasExactSynonym "AI1J", "amelogenesis imperfecta, iia 1j" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C4310630 ; biolink:category biolink:Disease . OMIM:617300 a owl:Class ; rdfs:label "lymphatic malformation 7" ; IAO:0000142 PMID:27400125, PMID:29905864 ; - oboInOwl:hasDbXref UMLS:C4310629 ; oboInOwl:hasExactSynonym "LMPHM7", "central conduction lymphatic anomaly", "hydrops fetalis, nonimmune, and/or atrial septal defect", "lymphatic malformation 7" ; rdfs:subClassOf OMIMPS:153100 ; + skos:exactMatch UMLS:C4310629 ; biolink:category biolink:Disease . OMIM:617301 a owl:Class ; @@ -460889,17 +477576,17 @@ OMIM:617301 a owl:Class ; PMID:15159536, PMID:27481395, PMID:27773429 ; - oboInOwl:hasDbXref UMLS:C4310943 ; oboInOwl:hasExactSynonym "glycine encephalopathy with normal serum glycine" ; + skos:exactMatch UMLS:C4310943 ; biolink:category biolink:Disease . OMIM:617302 a owl:Class ; rdfs:label "optic atrophy 11" ; IAO:0000142 PMID:27495975 ; - oboInOwl:hasDbXref UMLS:C4310628 ; oboInOwl:hasExactSynonym "OPA11", "optic atrophy 11" ; rdfs:subClassOf OMIMPS:165500 ; + skos:exactMatch UMLS:C4310628 ; biolink:category biolink:Disease . OMIM:617303 a owl:Class ; @@ -460907,38 +477594,38 @@ OMIM:617303 a owl:Class ; IAO:0000142 PMID:27547915, PMID:28013294, PMID:31070736 ; - oboInOwl:hasDbXref UMLS:C4310627, - ORPHA:505248 ; oboInOwl:hasExactSynonym "MPSPS", "mucopolysaccharidosis-plus syndrome" ; + skos:exactMatch UMLS:C4310627, + ORPHA:505248 ; biolink:category biolink:Disease . OMIM:617304 a owl:Class ; rdfs:label "retinitis pigmentosa 77" ; IAO:0000142 PMID:27889058 ; - oboInOwl:hasDbXref UMLS:C4310626 ; oboInOwl:hasExactSynonym "RP77", "retinitis pigmentosa 77" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4310626 ; biolink:category biolink:Disease . OMIM:617308 a owl:Class ; rdfs:label "bile acid synthesis defect, congenital, 6" ; IAO:0000142 PMID:27647924, PMID:27884763 ; - oboInOwl:hasDbXref UMLS:C4310624 ; oboInOwl:hasExactSynonym "CBAS6", "bile acid synthesis defect, congenital, 6" ; rdfs:subClassOf OMIMPS:607765 ; + skos:exactMatch UMLS:C4310624 ; biolink:category biolink:Disease . OMIM:617319 a owl:Class ; rdfs:label "anterior segment dysgenesis 8" ; IAO:0000142 PMID:27839872 ; - oboInOwl:hasDbXref UMLS:C4310622 ; oboInOwl:hasExactSynonym "ASGD8", "anterior segment dysgenesis 8" ; rdfs:subClassOf OMIMPS:107250 ; + skos:exactMatch UMLS:C4310622 ; biolink:category biolink:Disease . OMIM:617320 a owl:Class ; @@ -460947,10 +477634,10 @@ OMIM:617320 a owl:Class ; PMID:19434086, PMID:20643494, PMID:27494380 ; - oboInOwl:hasDbXref UMLS:C4310621 ; oboInOwl:hasExactSynonym "ARCI12", "ichthyosis, congenital, autosomal recessive 12" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C4310621 ; biolink:category biolink:Disease . OMIM:617321 a owl:Class ; @@ -460959,19 +477646,19 @@ OMIM:617321 a owl:Class ; PMID:23102769, PMID:26070941, PMID:27984003 ; - oboInOwl:hasDbXref UMLS:C4310620 ; oboInOwl:hasExactSynonym "YAOS", "yao syndrome" ; + skos:exactMatch UMLS:C4310620 ; biolink:category biolink:Disease . OMIM:617323 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 59" ; IAO:0000142 PMID:26416544 ; - oboInOwl:hasDbXref UMLS:C4310619 ; oboInOwl:hasExactSynonym "MRT59", "intellectual developmental disorder, autosomal recessive 59", "mental retardation, autosomal recessive 59" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4310619 ; biolink:category biolink:Disease . OMIM:617330 a owl:Class ; @@ -460979,27 +477666,27 @@ OMIM:617330 a owl:Class ; IAO:0000142 PMID:28017370, PMID:28017372, PMID:28017373 ; - oboInOwl:hasDbXref UMLS:C4310618 ; oboInOwl:hasExactSynonym "HADDS", "hypotonia, ataxia, and delayed development syndrome" ; + skos:exactMatch UMLS:C4310618 ; biolink:category biolink:Disease . OMIM:617333 a owl:Class ; rdfs:label "intellectual developmental disorder with dysmorphic facies and ptosis" ; IAO:0000142 PMID:27939639, PMID:27939640 ; - oboInOwl:hasDbXref UMLS:C4310617 ; oboInOwl:hasExactSynonym "IDDDFP", "intellectual developmental disorder with dysmorphic facies and ptosis" ; + skos:exactMatch UMLS:C4310617 ; biolink:category biolink:Disease . OMIM:617336 a owl:Class ; rdfs:label "nemaline myopathy 11, autosomal recessive" ; IAO:0000142 PMID:28017374 ; - oboInOwl:hasDbXref UMLS:C4479186 ; oboInOwl:hasExactSynonym "NEM11", "nemaline myopathy 11, autosomal recessive" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C4479186 ; biolink:category biolink:Disease . OMIM:617337 a owl:Class ; @@ -461007,29 +477694,29 @@ OMIM:617337 a owl:Class ; IAO:0000142 PMID:20979233, PMID:24075906, PMID:27838789 ; - oboInOwl:hasDbXref UMLS:C4310616 ; oboInOwl:hasExactSynonym "ECTD12", "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail iia" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C4310616 ; biolink:category biolink:Disease . OMIM:617339 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 51" ; IAO:0000142 PMID:27989324 ; - oboInOwl:hasDbXref UMLS:C4479208 ; oboInOwl:hasExactSynonym "DEE51", "developmental and epileptic encephalopathy 51", "epileptic encephalopathy, early infantile, 51" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4479208 ; biolink:category biolink:Disease . OMIM:617341 a owl:Class ; rdfs:label "cerebroretinal microangiopathy with calcifications and cysts 2" ; IAO:0000142 PMID:27432940 ; - oboInOwl:hasDbXref UMLS:C4479220 ; oboInOwl:hasExactSynonym "CRMCC2", "cerebroretinal microangiopathy with calcifications and cysts 2" ; rdfs:subClassOf OMIMPS:612199 ; + skos:exactMatch UMLS:C4479220 ; biolink:category biolink:Disease . OMIM:617347 a owl:Class ; @@ -461065,9 +477752,6 @@ OMIM:617347 a owl:Class ; PMID:759055, PMID:8136829, PMID:8911609 ; - oboInOwl:hasDbXref UMLS:C0020479, - UMLS:C1862591, - UMLS:C2676098 ; oboInOwl:hasExactSynonym "apolipoprotein e, deficiency or defect of", "broad-betalipoproteinemia", "coronary artery disease, severe, susceptibility to", @@ -461078,15 +477762,18 @@ OMIM:617347 a owl:Class ; "hyperlipemia with familial hypercholesterolemic xanthomatosis", "hyperlipoproteinemia, iia 3", "low density lipoprotein cholesterol level quantitative trait locus 5" ; + skos:exactMatch UMLS:C0020479, + UMLS:C1862591, + UMLS:C2676098 ; biolink:category biolink:Disease . OMIM:617349 a owl:Class ; rdfs:label "aortic aneurysm, familial thoracic 11, susceptibility to" ; IAO:0000142 PMID:26854927 ; - oboInOwl:hasDbXref UMLS:C4479235 ; oboInOwl:hasExactSynonym "AAT11", "aortic aneurysm, familial thoracic 11, susceptibility to" ; rdfs:subClassOf OMIMPS:607086 ; + skos:exactMatch UMLS:C4479235 ; biolink:category biolink:Disease . OMIM:617352 a owl:Class ; @@ -461094,27 +477781,27 @@ OMIM:617352 a owl:Class ; IAO:0000142 PMID:26248010 ; RO:0002525 CHR:9606chr20q11-q13 ; RO:0003303 OMIM:617352 ; - oboInOwl:hasDbXref UMLS:C4275029 ; oboInOwl:hasExactSynonym "MBCS", "mulchandani-bhoj-conlin syndrome", "uniparental disomy, maternal, chromosome 20" ; + skos:exactMatch UMLS:C4275029 ; biolink:category biolink:Disease . OMIM:617360 a owl:Class ; rdfs:label "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder" ; IAO:0000142 PMID:27479907, PMID:29021403 ; - oboInOwl:hasDbXref UMLS:C4479246 ; oboInOwl:hasExactSynonym "CHDFIDD", "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder" ; + skos:exactMatch UMLS:C4479246 ; biolink:category biolink:Disease . OMIM:617364 a owl:Class ; rdfs:label "congenital heart defects and ectodermal dysplasia" ; IAO:0000142 PMID:27479907 ; - oboInOwl:hasDbXref UMLS:C4479250 ; oboInOwl:hasExactSynonym "CHDED", "congenital heart defects and ectodermal dysplasia" ; + skos:exactMatch UMLS:C4479250 ; biolink:category biolink:Disease . OMIM:617384 a owl:Class ; @@ -461124,19 +477811,20 @@ OMIM:617384 a owl:Class ; PMID:29174366, PMID:30139987, PMID:9159748 ; - oboInOwl:hasDbXref UMLS:C4479270 ; oboInOwl:hasExactSynonym "HPANBH4", "hyperphenylalaninemia, mild, non-bh4-deficient" ; + skos:exactMatch UMLS:C4479270 ; biolink:category biolink:Disease . OMIM:617386 a owl:Class ; rdfs:label "nuclear receptor subfamily 1, group h, member 5, pseudogene" ; IAO:0000142 PMID:12529392 ; - oboInOwl:hasDbXref UMLS:C2239786 ; oboInOwl:hasExactSynonym "NR1H5P", "farnesoid x-activated receptor, beta, pseudogene", "nuclear receptor subfamily 1, group h, member 5, pseudogene" ; - skos:exactMatch HGNC_symbol:NR1H5P . + skos:exactMatch UMLS:C2239786, + HGNC:32673, + HGNC_symbol:NR1H5P . OMIM:617391 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 54" ; @@ -461145,48 +477833,48 @@ OMIM:617391 a owl:Class ; PMID:23934111, PMID:25356899, PMID:27652284 ; - oboInOwl:hasDbXref UMLS:C4479319, - ORPHA:1934 ; oboInOwl:hasExactSynonym "DEE54", "developmental and epileptic encephalopathy 54", "epileptic encephalopathy, early infantile, 54" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4479319, + ORPHA:1934 ; biolink:category biolink:Disease . OMIM:617392 a owl:Class ; rdfs:label "ectodermal dysplasia 13, hair/tooth iia" ; IAO:0000142 PMID:27049303 ; - oboInOwl:hasDbXref UMLS:C4479322 ; oboInOwl:hasExactSynonym "ECTD13", "ectodermal dysplasia 13, hair/tooth iia" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C4479322 ; biolink:category biolink:Disease . OMIM:617393 a owl:Class ; rdfs:label "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" ; IAO:0000142 PMID:28132692 ; - oboInOwl:hasDbXref UMLS:C4479333 ; oboInOwl:hasExactSynonym "NECFM", "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" ; + skos:exactMatch UMLS:C4479333 ; biolink:category biolink:Disease . OMIM:617394 a owl:Class ; rdfs:label "sclerosing cholangitis, neonatal" ; IAO:0000142 PMID:27319779, PMID:27469900 ; - oboInOwl:hasDbXref UMLS:C4479344 ; oboInOwl:hasExactSynonym "NSC", "sclerosing cholangitis, neonatal" ; + skos:exactMatch UMLS:C4479344 ; biolink:category biolink:Disease . OMIM:617395 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iiq" ; IAO:0000142 PMID:24784932 ; - oboInOwl:hasDbXref UMLS:C4479353 ; oboInOwl:hasExactSynonym "CDG2Q", "cdg iiq", "congenital disorder of glycosylation, iia iiq" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C4479353 ; biolink:category biolink:Disease . OMIM:617396 a owl:Class ; @@ -461194,10 +477882,10 @@ OMIM:617396 a owl:Class ; IAO:0000142 PMID:21455487, PMID:27380734, PMID:28067412 ; - oboInOwl:hasDbXref UMLS:C4479357 ; oboInOwl:hasExactSynonym "ANXD2", "anauxetic dysplasia 2" ; rdfs:subClassOf OMIMPS:607095 ; + skos:exactMatch UMLS:C4479357 ; biolink:category biolink:Disease . OMIM:617397 a owl:Class ; @@ -461205,31 +477893,31 @@ OMIM:617397 a owl:Class ; IAO:0000142 PMID:12833411, PMID:27325888, PMID:31940699 ; - oboInOwl:hasDbXref UMLS:C4479376, - ORPHA:481665 ; oboInOwl:hasExactSynonym "PTORCH2", "pseudo-torch syndrome 2" ; rdfs:subClassOf OMIMPS:251290 ; + skos:exactMatch UMLS:C4479376, + ORPHA:481665 ; biolink:category biolink:Disease . OMIM:617402 a owl:Class ; rdfs:label "cutis laxa, autosomal recessive, iia 2c" ; IAO:0000142 PMID:27023906, PMID:28065471 ; - oboInOwl:hasDbXref UMLS:C4479387, - ORPHA:357074 ; oboInOwl:hasExactSynonym "ARCL2C", "cutis laxa, autosomal recessive, iia 2c" ; rdfs:subClassOf OMIMPS:123700 ; + skos:exactMatch UMLS:C4479387, + ORPHA:357074 ; biolink:category biolink:Disease . OMIM:617404 a owl:Class ; rdfs:label "muscular dystrophy, congenital, with cataracts and intellectual disability" ; IAO:0000142 PMID:28190456, PMID:28190459 ; - oboInOwl:hasDbXref UMLS:C4479410 ; oboInOwl:hasExactSynonym "MDCCAID", "muscular dystrophy, congenital, with cataracts and intellectual disability" ; + skos:exactMatch UMLS:C4479410 ; biolink:category biolink:Disease . OMIM:617405 a owl:Class ; @@ -461237,92 +477925,92 @@ OMIM:617405 a owl:Class ; IAO:0000142 PMID:22791528, PMID:24183451, PMID:26044572 ; - oboInOwl:hasDbXref UMLS:C4479416 ; oboInOwl:hasExactSynonym "SRTD17", "short-rib thoracic dysplasia 17 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C4479416 ; biolink:category biolink:Disease . OMIM:617408 a owl:Class ; rdfs:label "diamond-blackfan anemia 16" ; IAO:0000142 PMID:25424902 ; - oboInOwl:hasDbXref UMLS:C4479424 ; oboInOwl:hasExactSynonym "DBA16", "diamond-blackfan anemia 16" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C4479424 ; biolink:category biolink:Disease . OMIM:617409 a owl:Class ; rdfs:label "diamond-blackfan anemia 17" ; IAO:0000142 PMID:25424902 ; - oboInOwl:hasDbXref UMLS:C4479428 ; oboInOwl:hasExactSynonym "DBA17", "diamond-blackfan anemia 17" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C4479428 ; biolink:category biolink:Disease . OMIM:617412 a owl:Class ; rdfs:label "brachycephaly, trichomegaly, and developmental delay" ; IAO:0000142 PMID:26982655, PMID:28257692 ; - oboInOwl:hasDbXref UMLS:C4479431 ; oboInOwl:hasExactSynonym "BTDD", "brachycephaly, trichomegaly, and developmental delay", "macinnes syndrome" ; + skos:exactMatch UMLS:C4479431 ; biolink:category biolink:Disease . OMIM:617425 a owl:Class ; rdfs:label "immunoskeletal dysplasia with neurodevelopmental abnormalities" ; IAO:0000142 PMID:28132690, PMID:28148688 ; - oboInOwl:hasDbXref UMLS:C4479452 ; oboInOwl:hasExactSynonym "ISDNA", "immunoskeletal dysplasia with neurodevelopmental abnormalities" ; + skos:exactMatch UMLS:C4479452 ; biolink:category biolink:Disease . OMIM:617432 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 60" ; IAO:0000142 PMID:28257693 ; - oboInOwl:hasDbXref UMLS:C4479476 ; oboInOwl:hasExactSynonym "MRT60", "intellectual developmental disorder, autosomal recessive 60", "mental retardation, autosomal recessive 60" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4479476 ; biolink:category biolink:Disease . OMIM:617433 a owl:Class ; rdfs:label "retinitis pigmentosa 78" ; IAO:0000142 PMID:28132693 ; - oboInOwl:hasDbXref UMLS:C4479481 ; oboInOwl:hasExactSynonym "RP78", "retinitis pigmentosa 78" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4479481 ; biolink:category biolink:Disease . OMIM:617435 a owl:Class ; rdfs:label "lopes-maciel-rodan syndrome" ; IAO:0000142 PMID:26740508, PMID:27329733 ; - oboInOwl:hasDbXref UMLS:C4479491 ; oboInOwl:hasExactSynonym "LOMARS", "lopes-maciel-rodan syndrome" ; + skos:exactMatch UMLS:C4479491 ; biolink:category biolink:Disease . OMIM:617441 a owl:Class ; rdfs:label "thrombocytopenia, anemia, and myelofibrosis" ; IAO:0000142 PMID:23112346 ; - oboInOwl:hasDbXref UMLS:C4479504 ; oboInOwl:hasExactSynonym "THAMY", "thrombocytopenia, anemia, and myelofibrosis" ; + skos:exactMatch UMLS:C4479504 ; biolink:category biolink:Disease . OMIM:617442 a owl:Class ; rdfs:label "premature ovarian failure 13" ; IAO:0000142 PMID:28175301 ; - oboInOwl:hasDbXref UMLS:C4479510 ; oboInOwl:hasExactSynonym "POF13", "premature ovarian failure 13" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C4479510 ; biolink:category biolink:Disease . OMIM:617443 a owl:Class ; @@ -461330,76 +478018,76 @@ OMIM:617443 a owl:Class ; IAO:0000142 PMID:24100448, PMID:26316623, PMID:28255014 ; - oboInOwl:hasDbXref UMLS:C4479515 ; oboInOwl:hasExactSynonym "BDPLT21", "bleeding disorder, platelet-type, 21" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C4479515 ; biolink:category biolink:Disease . OMIM:617450 a owl:Class ; rdfs:label "jansen-de vries syndrome" ; IAO:0000142 PMID:28343630 ; - oboInOwl:hasDbXref UMLS:C4479517 ; oboInOwl:hasExactSynonym "JDVS", "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, formerly", "jansen-de vries syndrome" ; + skos:exactMatch UMLS:C4479517 ; biolink:category biolink:Disease . OMIM:617452 a owl:Class ; rdfs:label "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies" ; IAO:0000142 PMID:28343629 ; - oboInOwl:hasDbXref UMLS:C4479520 ; oboInOwl:hasExactSynonym "IDDFSDA", "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies" ; + skos:exactMatch UMLS:C4479520 ; biolink:category biolink:Disease . OMIM:617460 a owl:Class ; rdfs:label "retinitis pigmentosa 79" ; IAO:0000142 PMID:25190649, PMID:25316723 ; - oboInOwl:hasDbXref UMLS:C4479526 ; oboInOwl:hasExactSynonym "RP79", "retinitis pigmentosa 79" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4479526 ; biolink:category biolink:Disease . OMIM:617466 a owl:Class ; rdfs:label "townes-brocks syndrome 2" ; IAO:0000142 PMID:28054444 ; - oboInOwl:hasDbXref UMLS:C4479534 ; oboInOwl:hasExactSynonym "TBS2", "townes-brocks syndrome 2" ; rdfs:subClassOf OMIMPS:107480 ; + skos:exactMatch UMLS:C4479534 ; biolink:category biolink:Disease . OMIM:617468 a owl:Class ; rdfs:label "arthrogryposis multiplex congenita 1, neurogenic, with myelin defect" ; IAO:0000142 PMID:28318499 ; - oboInOwl:hasDbXref UMLS:C4479539, - ORPHA:2680 ; oboInOwl:hasExactSynonym "AMC1", "arthrogryposis multiplex congenita 1, neurogenic, with myelin defect", "arthrogryposis multiplex congenita, neurogenic, with myelin defect" ; rdfs:subClassOf OMIMPS:617468 ; + skos:exactMatch UMLS:C4479539, + ORPHA:2680 ; biolink:category biolink:Disease . OMIM:617475 a owl:Class ; rdfs:label "specific granule deficiency 2" ; IAO:0000142 PMID:28369034, PMID:28369036 ; - oboInOwl:hasDbXref UMLS:C4479548, - ORPHA:169142 ; oboInOwl:hasExactSynonym "SGD2", "specific granule deficiency 2" ; rdfs:subClassOf OMIMPS:245480 ; + skos:exactMatch UMLS:C4479548, + ORPHA:169142 ; biolink:category biolink:Disease . OMIM:617478 a owl:Class ; rdfs:label "structural heart defects and renal anomalies syndrome" ; IAO:0000142 PMID:28318500 ; - oboInOwl:hasDbXref UMLS:C4479549 ; oboInOwl:hasExactSynonym "SHDRA", "structural heart defects and renal anomalies syndrome" ; + skos:exactMatch UMLS:C4479549 ; biolink:category biolink:Disease . OMIM:617481 a owl:Class ; @@ -461407,9 +478095,9 @@ OMIM:617481 a owl:Class ; IAO:0000142 PMID:26539891, PMID:28211990, PMID:28334956 ; - oboInOwl:hasDbXref UMLS:C4479566 ; oboInOwl:hasExactSynonym "NMIHBA", "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" ; + skos:exactMatch UMLS:C4479566 ; biolink:category biolink:Disease . OMIM:617493 a owl:Class ; @@ -461420,10 +478108,10 @@ OMIM:617493 a owl:Class ; PMID:27625011, PMID:27916449, PMID:28357411 ; - oboInOwl:hasDbXref UMLS:C4479569, - ORPHA:1934 ; oboInOwl:hasExactSynonym "NEDIM", "neurodevelopmental disorder with involuntary movements" ; + skos:exactMatch UMLS:C4479569, + ORPHA:1934 ; biolink:category biolink:Disease . OMIM:617506 a owl:Class ; @@ -461433,21 +478121,21 @@ OMIM:617506 a owl:Class ; PMID:27681385, PMID:27868344, PMID:28211982 ; - oboInOwl:hasDbXref UMLS:C4479577 ; oboInOwl:hasExactSynonym "NSLH2", "noonan syndrome-like disorder with loose anagen hair 2" ; rdfs:subClassOf OMIMPS:163950, OMIMPS:607721 ; + skos:exactMatch UMLS:C4479577 ; biolink:category biolink:Disease . OMIM:617507 a owl:Class ; rdfs:label "peho-like syndrome" ; IAO:0000142 PMID:26917597, PMID:28335020 ; - oboInOwl:hasDbXref UMLS:C1850056 ; oboInOwl:hasExactSynonym "PEHOL", "peho-like syndrome", "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome" ; + skos:exactMatch UMLS:C1850056 ; biolink:category biolink:Disease . OMIM:617514 a owl:Class ; @@ -461457,18 +478145,18 @@ OMIM:617514 a owl:Class ; PMID:12065840, PMID:27242165, PMID:27522155 ; - oboInOwl:hasDbXref UMLS:C4479588 ; oboInOwl:hasExactSynonym "IMD52", "immunodeficiency 52" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4479588 ; biolink:category biolink:Disease . OMIM:617516 a owl:Class ; rdfs:label "stankiewicz-isidor syndrome" ; IAO:0000142 PMID:28132691 ; - oboInOwl:hasDbXref UMLS:C4479599 ; oboInOwl:hasExactSynonym "STISS", "stankiewicz-isidor syndrome" ; + skos:exactMatch UMLS:C4479599 ; biolink:category biolink:Disease . OMIM:617519 a owl:Class ; @@ -461478,27 +478166,27 @@ OMIM:617519 a owl:Class ; PMID:28540413, PMID:29861105, PMID:6637453 ; - oboInOwl:hasDbXref UMLS:C4479603 ; oboInOwl:hasExactSynonym "NEDHND", "myopathy, congenital, with neuropathy and deafness", "neurodevelopmental disorder with hypotonia, neuropathy, and deafness" ; + skos:exactMatch UMLS:C4479603 ; biolink:category biolink:Disease . OMIM:617520 a owl:Class ; rdfs:label "microcephaly 18, primary, autosomal dominant" ; IAO:0000142 PMID:27008544 ; - oboInOwl:hasDbXref UMLS:C4479608 ; oboInOwl:hasExactSynonym "MCPH18", "microcephaly 18, primary, autosomal dominant" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4479608 ; biolink:category biolink:Disease . OMIM:617523 a owl:Class ; rdfs:label "neurodevelopmental disorder with midbrain and hindbrain malformations" ; IAO:0000142 PMID:28453519 ; - oboInOwl:hasDbXref UMLS:C4479613 ; oboInOwl:hasExactSynonym "NEDMHM", "neurodevelopmental disorder with midbrain and hindbrain malformations" ; + skos:exactMatch UMLS:C4479613 ; biolink:category biolink:Disease . OMIM:617524 a owl:Class ; @@ -461507,19 +478195,19 @@ OMIM:617524 a owl:Class ; PMID:12648223, PMID:148984, PMID:19291775 ; - oboInOwl:hasDbXref UMLS:C4479618 ; oboInOwl:hasExactSynonym "EKVP2", "erythrokeratodermia variabilis et progressiva 2" ; rdfs:subClassOf OMIMPS:133200 ; + skos:exactMatch UMLS:C4479618 ; biolink:category biolink:Disease . OMIM:617526 a owl:Class ; rdfs:label "erythrokeratodermia variabilis et progressiva 4" ; IAO:0000142 PMID:28575652 ; - oboInOwl:hasDbXref UMLS:C4479620 ; oboInOwl:hasExactSynonym "EKVP4", "erythrokeratodermia variabilis et progressiva 4" ; rdfs:subClassOf OMIMPS:133200 ; + skos:exactMatch UMLS:C4479620 ; biolink:category biolink:Disease . OMIM:617527 a owl:Class ; @@ -461527,55 +478215,55 @@ OMIM:617527 a owl:Class ; IAO:0000142 PMID:28007986, PMID:28413018, PMID:31322726 ; - oboInOwl:hasDbXref UMLS:C4479631, - ORPHA:521426 ; oboInOwl:hasExactSynonym "NDMSBA", "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" ; + skos:exactMatch UMLS:C4479631, + ORPHA:521426 ; biolink:category biolink:Disease . OMIM:617532 a owl:Class ; rdfs:label "intellectual developmental disorder with neuropsychiatric features" ; IAO:0000142 PMID:27431290, PMID:28434495 ; - oboInOwl:hasDbXref UMLS:C4479636 ; oboInOwl:hasExactSynonym "IDDNPF", "intellectual developmental disorder with neuropsychiatric features" ; + skos:exactMatch UMLS:C4479636 ; biolink:category biolink:Disease . OMIM:617537 a owl:Class ; rdfs:label "rahman syndrome" ; IAO:0000142 PMID:28475857 ; - oboInOwl:hasDbXref UMLS:C4479637 ; oboInOwl:hasExactSynonym "RMNS", "rahman syndrome" ; + skos:exactMatch UMLS:C4479637 ; biolink:category biolink:Disease . OMIM:617540 a owl:Class ; rdfs:label "pituitary adenoma 5, multiple types" ; IAO:0000142 PMID:28413019 ; - oboInOwl:hasDbXref UMLS:C4539685 ; oboInOwl:hasExactSynonym "PITA5", "pituitary adenoma 5, multiple types" ; rdfs:subClassOf OMIMPS:102200 ; + skos:exactMatch UMLS:C4539685 ; biolink:category biolink:Disease . OMIM:617557 a owl:Class ; rdfs:label "gabriele-de vries syndrome" ; IAO:0000142 PMID:21076407, PMID:28575647 ; - oboInOwl:hasDbXref UMLS:C4479652 ; oboInOwl:hasExactSynonym "GADEVS", "gabriele-de vries syndrome" ; + skos:exactMatch UMLS:C4479652 ; biolink:category biolink:Disease . OMIM:617560 a owl:Class ; rdfs:label "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" ; IAO:0000142 PMID:15601927, PMID:28575651 ; - oboInOwl:hasDbXref UMLS:C4479653 ; oboInOwl:hasExactSynonym "SPAX8", "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" ; rdfs:subClassOf OMIMPS:108600 ; + skos:exactMatch UMLS:C4479653 ; biolink:category biolink:Disease . OMIM:617561 a owl:Class ; @@ -461584,10 +478272,10 @@ OMIM:617561 a owl:Class ; PMID:27193220, PMID:27868325, PMID:28229514 ; - oboInOwl:hasDbXref UMLS:C4479654, - ORPHA:3447 ; oboInOwl:hasExactSynonym "COGIS", "cohen-gibson syndrome" ; + skos:exactMatch UMLS:C4479654, + ORPHA:3447 ; biolink:category biolink:Disease . OMIM:617563 a owl:Class ; @@ -461595,50 +478283,50 @@ OMIM:617563 a owl:Class ; IAO:0000142 PMID:23523602, PMID:26518474, PMID:26595381 ; - oboInOwl:hasDbXref UMLS:C4539729 ; oboInOwl:hasExactSynonym "OFD16", "ofds 16", "oral-facial-digital syndrome, iia 16", "orofaciodigital syndrome 16" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C4539729 ; biolink:category biolink:Disease . OMIM:617564 a owl:Class ; rdfs:label "meier-gorlin syndrome 8" ; IAO:0000142 PMID:28198391 ; - oboInOwl:hasDbXref UMLS:C4479655 ; oboInOwl:hasExactSynonym "MGORS8", "meier-gorlin syndrome 8" ; rdfs:subClassOf OMIMPS:224690 ; + skos:exactMatch UMLS:C4479655 ; biolink:category biolink:Disease . OMIM:617565 a owl:Class ; rdfs:label "perrault syndrome 6" ; IAO:0000142 PMID:28449065 ; - oboInOwl:hasDbXref UMLS:C4479656, - ORPHA:2855 ; oboInOwl:hasExactSynonym "PRLTS6", "perrault syndrome 6" ; rdfs:subClassOf OMIMPS:233400 ; + skos:exactMatch UMLS:C4479656, + ORPHA:2855 ; biolink:category biolink:Disease . OMIM:617571 a owl:Class ; rdfs:label "ichthyosis, congenital, autosomal recessive 14" ; IAO:0000142 PMID:28575648 ; - oboInOwl:hasDbXref UMLS:C4539754 ; oboInOwl:hasExactSynonym "ARCI14", "ichthyosis, congenital, autosomal recessive 14" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C4539754 ; biolink:category biolink:Disease . OMIM:617574 a owl:Class ; rdfs:label "ichthyosis, congenital, autosomal recessive 13" ; IAO:0000142 PMID:28173123, PMID:28369735 ; - oboInOwl:hasDbXref UMLS:C4539772 ; oboInOwl:hasExactSynonym "ARCI13", "ichthyosis, congenital, autosomal recessive 13" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C4539772 ; biolink:category biolink:Disease . OMIM:617575 a owl:Class ; @@ -461648,11 +478336,11 @@ OMIM:617575 a owl:Class ; PMID:28165339, PMID:28165343, PMID:28181337 ; - oboInOwl:hasDbXref UMLS:C4540559 ; oboInOwl:hasExactSynonym "NPHS14", "nephrotic syndrome, iia 14", "sphingosine phosphate lyase insufficiency syndrome" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C4540559 ; biolink:category biolink:Disease . OMIM:617576 a owl:Class ; @@ -461663,10 +478351,10 @@ OMIM:617576 a owl:Class ; PMID:28552195, PMID:29277146, PMID:29449551 ; - oboInOwl:hasDbXref UMLS:C4539783 ; oboInOwl:hasExactSynonym "SPGF18", "spermatogenic failure 18" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4539783 ; biolink:category biolink:Disease . OMIM:617584 a owl:Class ; @@ -461675,19 +478363,19 @@ OMIM:617584 a owl:Class ; PMID:15981765, PMID:16625204, PMID:26812546 ; - oboInOwl:hasDbXref UMLS:C4539808 ; oboInOwl:hasExactSynonym "SCAR25", "spinocerebellar ataxia, autosomal recessive 25" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4539808 ; biolink:category biolink:Disease . OMIM:617585 a owl:Class ; rdfs:label "immunodeficiency 53" ; IAO:0000142 PMID:26385063 ; - oboInOwl:hasDbXref UMLS:C4539811 ; oboInOwl:hasExactSynonym "IMD53", "immunodeficiency 53" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4539811 ; biolink:category biolink:Disease . OMIM:617592 a owl:Class ; @@ -461695,10 +478383,10 @@ OMIM:617592 a owl:Class ; IAO:0000142 PMID:28552195, PMID:29277146, PMID:29449551 ; - oboInOwl:hasDbXref UMLS:C4539818 ; oboInOwl:hasExactSynonym "SPGF19", "spermatogenic failure 19" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4539818 ; biolink:category biolink:Disease . OMIM:617593 a owl:Class ; @@ -461706,30 +478394,30 @@ OMIM:617593 a owl:Class ; IAO:0000142 PMID:28552195, PMID:29277146, PMID:29449551 ; - oboInOwl:hasDbXref UMLS:C4539824 ; oboInOwl:hasExactSynonym "SPGF20", "spermatogenic failure 20" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4539824 ; biolink:category biolink:Disease . OMIM:617595 a owl:Class ; rdfs:label "birk-landau-perez syndrome" ; IAO:0000142 PMID:28334855 ; - oboInOwl:hasDbXref UMLS:C4539828, - ORPHA:505242 ; oboInOwl:hasExactSynonym "BILAPES", "birk-landau-perez syndrome" ; + skos:exactMatch UMLS:C4539828, + ORPHA:505242 ; biolink:category biolink:Disease . OMIM:617596 a owl:Class ; rdfs:label "maleylacetoacetate isomerase deficiency" ; IAO:0000142 PMID:27876694 ; - oboInOwl:hasDbXref UMLS:C1291607 ; oboInOwl:hasExactSynonym "MAAID", "benign hypersuccinylacetonemia", "hypersuccinylacetonemia, mild", "maai deficiency", "maleylacetoacetate isomerase deficiency" ; + skos:exactMatch UMLS:C1291607 ; biolink:category biolink:Disease . OMIM:617599 a owl:Class ; @@ -461737,50 +478425,50 @@ OMIM:617599 a owl:Class ; IAO:0000142 PMID:28334793, PMID:31139695, PMID:32042915 ; - oboInOwl:hasDbXref UMLS:C4539843, - ORPHA:1934 ; oboInOwl:hasExactSynonym "DEE55", "developmental and epileptic encephalopathy 55", "epileptic encephalopathy, early infantile, 55", "glycosylphosphatidylinositol biosynthesis defect 14" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4539843, + ORPHA:1934 ; biolink:category biolink:Disease . OMIM:617600 a owl:Class ; rdfs:label "mental retardation, autosomal dominant 45" ; IAO:0000142 PMID:21076407, PMID:28288114 ; - oboInOwl:hasDbXref UMLS:C4539848 ; oboInOwl:hasExactSynonym "MRD45", "mental retardation, autosomal dominant 45" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4539848 ; biolink:category biolink:Disease . OMIM:617601 a owl:Class ; rdfs:label "mental retardation, autosomal dominant 46" ; IAO:0000142 PMID:28669405 ; - oboInOwl:hasDbXref UMLS:C4539851 ; oboInOwl:hasExactSynonym "MRD46", "mental retardation, autosomal dominant 46" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4539851 ; biolink:category biolink:Disease . OMIM:617606 a owl:Class ; rdfs:label "deafness, autosomal dominant 72" ; IAO:0000142 PMID:28013291 ; - oboInOwl:hasDbXref UMLS:C4539886 ; oboInOwl:hasExactSynonym "DFNA72", "deafness, autosomal dominant 72" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4539886 ; biolink:category biolink:Disease . OMIM:617607 a owl:Class ; rdfs:label "amelogenesis imperfecta, iia 3b" ; IAO:0000142 PMID:27412008 ; - oboInOwl:hasDbXref UMLS:C4539891 ; oboInOwl:hasExactSynonym "AI3B", "amelogenesis imperfecta, iia 3b" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C4539891 ; biolink:category biolink:Disease . OMIM:617609 a owl:Class ; @@ -461788,74 +478476,74 @@ OMIM:617609 a owl:Class ; IAO:0000142 PMID:25108225, PMID:25271328, PMID:27932480 ; - oboInOwl:hasDbXref UMLS:C4539896 ; oboInOwl:hasExactSynonym "NPHS15", "nephrotic syndrome, iia 15" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C4539896 ; biolink:category biolink:Disease . OMIM:617610 a owl:Class ; rdfs:label "polycystic kidney disease 5" ; IAO:0000142 PMID:28530676 ; - oboInOwl:hasDbXref UMLS:C4539903 ; oboInOwl:hasExactSynonym "PKD5", "polycystic kidney disease 5" ; rdfs:subClassOf OMIMPS:173900 ; + skos:exactMatch UMLS:C4539903 ; biolink:category biolink:Disease . OMIM:617613 a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 5" ; IAO:0000142 PMID:28356563, PMID:29767723 ; - oboInOwl:hasDbXref UMLS:C4539919 ; oboInOwl:hasExactSynonym "MMDS5", "multiple mitochondrial dysfunctions syndrome 5" ; rdfs:subClassOf OMIMPS:605711 ; + skos:exactMatch UMLS:C4539919 ; biolink:category biolink:Disease . OMIM:617616 a owl:Class ; rdfs:label "skraban-deardorff syndrome" ; IAO:0000142 PMID:28686853 ; - oboInOwl:hasDbXref UMLS:C4539927 ; oboInOwl:hasExactSynonym "SKDEAS", "intellectual disability with seizures, abnormal gait, and distinctive facial features", "skraban-deardorff syndrome" ; + skos:exactMatch UMLS:C4539927 ; biolink:category biolink:Disease . OMIM:617622 a owl:Class ; rdfs:label "joubert syndrome 30" ; IAO:0000142 PMID:28625504 ; - oboInOwl:hasDbXref UMLS:C4539937 ; oboInOwl:hasExactSynonym "JBTS30", "joubert syndrome 30" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4539937 ; biolink:category biolink:Disease . OMIM:617629 a owl:Class ; rdfs:label "schizophrenia 19" ; IAO:0000142 PMID:28628109 ; - oboInOwl:hasDbXref UMLS:C4539944 ; oboInOwl:hasExactSynonym "SCZD19", "schizophrenia 19", "schizophrenia 19 with or without an affective disorder" ; + skos:exactMatch UMLS:C4539944 ; biolink:category biolink:Disease . OMIM:617633 a owl:Class ; rdfs:label "spinocerebellar ataxia, autosomal recessive 26" ; IAO:0000142 PMID:28002403 ; - oboInOwl:hasDbXref UMLS:C4539948 ; oboInOwl:hasExactSynonym "SCAR26", "spinocerebellar ataxia, autosomal recessive 26" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C4539948 ; biolink:category biolink:Disease . OMIM:617635 a owl:Class ; rdfs:label "mental retardation, autosomal dominant 47" ; IAO:0000142 PMID:28119487 ; - oboInOwl:hasDbXref UMLS:C4539951 ; oboInOwl:hasExactSynonym "MRD47", "mental retardation, autosomal dominant 47" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4539951 ; biolink:category biolink:Disease . OMIM:617637 a owl:Class ; @@ -461863,29 +478551,29 @@ OMIM:617637 a owl:Class ; IAO:0000142 PMID:23918390, PMID:26282398, PMID:28281779 ; - oboInOwl:hasDbXref UMLS:C4539954 ; oboInOwl:hasExactSynonym "DFNB106", "deafness, autosomal recessive 106" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4539954 ; biolink:category biolink:Disease . OMIM:617638 a owl:Class ; rdfs:label "immunodeficiency 11b with atopic dermatitis" ; IAO:0000142 PMID:28628108 ; - oboInOwl:hasDbXref UMLS:C4539957 ; oboInOwl:hasExactSynonym "IMD11B", "atopic dermatitis, elevated ige, and eosinophilia", "immunodeficiency 11b with atopic dermatitis" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4539957 ; biolink:category biolink:Disease . OMIM:617639 a owl:Class ; rdfs:label "deafness, autosomal recessive 107" ; IAO:0000142 PMID:26881968 ; - oboInOwl:hasDbXref UMLS:C4539964 ; oboInOwl:hasExactSynonym "DFNB107", "deafness, autosomal recessive 107" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4539964 ; biolink:category biolink:Disease . OMIM:617641 a owl:Class ; @@ -461895,77 +478583,77 @@ OMIM:617641 a owl:Class ; PMID:28270404, PMID:28566479, PMID:29036646 ; - oboInOwl:hasDbXref UMLS:C4539968 ; oboInOwl:hasExactSynonym "CAKUTHED", "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" ; + skos:exactMatch UMLS:C4539968 ; biolink:category biolink:Disease . OMIM:617642 a owl:Class ; rdfs:label "polydactyly, postaxial, iia a7" ; IAO:0000142 PMID:28488682, PMID:31549751 ; - oboInOwl:hasDbXref UMLS:C4539976 ; oboInOwl:hasExactSynonym "PAPA7", "polydactyly, postaxial, iia a7" ; rdfs:subClassOf OMIMPS:174200 ; + skos:exactMatch UMLS:C4539976 ; biolink:category biolink:Disease . OMIM:617644 a owl:Class ; rdfs:label "spermatogenic failure 21" ; IAO:0000142 PMID:28199965 ; - oboInOwl:hasDbXref UMLS:C4539991 ; oboInOwl:hasExactSynonym "SPGF21", "spermatogenic failure 21" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4539991 ; biolink:category biolink:Disease . OMIM:617654 a owl:Class ; rdfs:label "deafness, autosomal recessive 108" ; IAO:0000142 PMID:27162350 ; - oboInOwl:hasDbXref UMLS:C4539997 ; oboInOwl:hasExactSynonym "DFNB108", "deafness, autosomal recessive 108" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4539997 ; biolink:category biolink:Disease . OMIM:617660 a owl:Class ; rdfs:label "vertebral, cardiac, renal, and limb defects syndrome 1" ; IAO:0000142 PMID:28792876 ; - oboInOwl:hasDbXref UMLS:C4540004, - ORPHA:521438 ; oboInOwl:hasExactSynonym "3-hydroxyanthranilic acidemia", "VCRL1", "congenital nad deficiency disorder 1", "vertebral, cardiac, renal, and limb defects syndrome 1" ; rdfs:subClassOf OMIMPS:617660 ; + skos:exactMatch UMLS:C4540004, + ORPHA:521438 ; biolink:category biolink:Disease . OMIM:617661 a owl:Class ; rdfs:label "vertebral, cardiac, renal, and limb defects syndrome 2" ; IAO:0000142 PMID:28792876 ; - oboInOwl:hasDbXref UMLS:C4540014 ; oboInOwl:hasExactSynonym "VCRL2", "congenital nad deficiency disorder 2", "kynureninase deficiency, complete", "vertebral, cardiac, renal, and limb defects syndrome 2" ; rdfs:subClassOf OMIMPS:617660 ; + skos:exactMatch UMLS:C4540014 ; biolink:category biolink:Disease . OMIM:617662 a owl:Class ; rdfs:label "joint laxity, short stature, and myopia" ; IAO:0000142 PMID:28475863 ; - oboInOwl:hasDbXref UMLS:C4540020 ; oboInOwl:hasExactSynonym "JLSM", "joint laxity, short stature, and myopia" ; + skos:exactMatch UMLS:C4540020 ; biolink:category biolink:Disease . OMIM:617664 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 32" ; IAO:0000142 PMID:28777931 ; - oboInOwl:hasDbXref UMLS:C4540029 ; oboInOwl:hasExactSynonym "COXPD32", "combined oxidative phosphorylation deficiency 32" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4540029 ; biolink:category biolink:Disease . OMIM:617665 a owl:Class ; @@ -461976,11 +478664,11 @@ OMIM:617665 a owl:Class ; PMID:27288018, PMID:28135719, PMID:28777935 ; - oboInOwl:hasDbXref UMLS:C4540034 ; oboInOwl:hasExactSynonym "DEE56", "developmental and epileptic encephalopathy 56", "epileptic encephalopathy, early infantile, 56" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4540034 ; biolink:category biolink:Disease . OMIM:617666 a owl:Class ; @@ -461990,10 +478678,10 @@ OMIM:617666 a owl:Class ; PMID:18203166, PMID:18671281, PMID:29688405 ; - oboInOwl:hasDbXref UMLS:C4540036 ; oboInOwl:hasExactSynonym "FRASRS2", "fraser syndrome 2" ; rdfs:subClassOf OMIMPS:219000 ; + skos:exactMatch UMLS:C4540036 ; biolink:category biolink:Disease . OMIM:617667 a owl:Class ; @@ -462002,47 +478690,47 @@ OMIM:617667 a owl:Class ; PMID:16880404, PMID:18671281, PMID:22510445 ; - oboInOwl:hasDbXref UMLS:C4540040, - ORPHA:2052 ; oboInOwl:hasExactSynonym "FRASRS3", "fraser syndrome 3" ; rdfs:subClassOf OMIMPS:219000 ; + skos:exactMatch UMLS:C4540040, + ORPHA:2052 ; biolink:category biolink:Disease . OMIM:617668 a owl:Class ; rdfs:label "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" ; IAO:0000142 PMID:28757203 ; - oboInOwl:hasDbXref UMLS:C4540052 ; oboInOwl:hasExactSynonym "NELABA", "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities", "lipoyltransferase 2 deficiency" ; + skos:exactMatch UMLS:C4540052 ; biolink:category biolink:Disease . OMIM:617669 a owl:Class ; rdfs:label "encephalopathy, progressive, early-onset, with brain atrophy and spasticity" ; IAO:0000142 PMID:28777934 ; - oboInOwl:hasDbXref UMLS:C4540059 ; oboInOwl:hasExactSynonym "PEBAS", "encephalopathy, progressive, early-onset, with brain atrophy and spasticity" ; + skos:exactMatch UMLS:C4540059 ; biolink:category biolink:Disease . OMIM:617671 a owl:Class ; rdfs:label "helix syndrome" ; IAO:0000142 PMID:28686597, PMID:28771254 ; - oboInOwl:hasDbXref UMLS:C4522164 ; oboInOwl:hasExactSynonym "HELIX", "helix syndrome", "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" ; + skos:exactMatch UMLS:C4522164 ; biolink:category biolink:Disease . OMIM:617672 a owl:Class ; rdfs:label "neurodegeneration, childhood-onset, with brain atrophy" ; IAO:0000142 PMID:28777933, PMID:29300972 ; - oboInOwl:hasDbXref UMLS:C4540086 ; oboInOwl:hasExactSynonym "CONDBA", "neurodegeneration, childhood-onset, with brain atrophy" ; + skos:exactMatch UMLS:C4540086 ; biolink:category biolink:Disease . OMIM:617675 a owl:Class ; @@ -462051,47 +478739,47 @@ OMIM:617675 a owl:Class ; PMID:28554942, PMID:29339779, PMID:30684668 ; - oboInOwl:hasDbXref UMLS:C4540096, - ORPHA:502423 ; oboInOwl:hasExactSynonym "MMYAT", "myopathy, mitochondrial, and ataxia" ; + skos:exactMatch UMLS:C4540096, + ORPHA:502423 ; biolink:category biolink:Disease . OMIM:617681 a owl:Class ; rdfs:label "blepharocheilodontic syndrome 2" ; IAO:0000142 PMID:28301459 ; - oboInOwl:hasDbXref UMLS:C4540127 ; oboInOwl:hasExactSynonym "BCDS2", "blepharocheilodontic syndrome 2" ; rdfs:subClassOf OMIMPS:119580 ; + skos:exactMatch UMLS:C4540127 ; biolink:category biolink:Disease . OMIM:617682 a owl:Class ; rdfs:label "pilarowski-bjornsson syndrome" ; IAO:0000142 PMID:28866611 ; - oboInOwl:hasDbXref UMLS:C4540131 ; oboInOwl:hasExactSynonym "PILBOS", "developmental delay and speech apraxia with or without seizures", "pilarowski-bjornsson syndrome" ; + skos:exactMatch UMLS:C4540131 ; biolink:category biolink:Disease . OMIM:617694 a owl:Class ; rdfs:label "al kaissi syndrome" ; IAO:0000142 PMID:28886341 ; - oboInOwl:hasDbXref UMLS:C4540156 ; oboInOwl:hasExactSynonym "ALKAS", "al kaissi syndrome", "growth retardation, spine malformation, dysmorphic facies, and developmental delay" ; + skos:exactMatch UMLS:C4540156 ; biolink:category biolink:Disease . OMIM:617695 a owl:Class ; rdfs:label "pontocerebellar hypoplasia, iia 11" ; IAO:0000142 PMID:28823706, PMID:28823707 ; - oboInOwl:hasDbXref UMLS:C4540164 ; oboInOwl:hasExactSynonym "PCH11", "pontocerebellar hypoplasia, iia 11" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C4540164 ; biolink:category biolink:Disease . OMIM:617698 a owl:Class ; @@ -462099,38 +478787,38 @@ OMIM:617698 a owl:Class ; IAO:0000142 PMID:27573165, PMID:30190335, PMID:32369862 ; - oboInOwl:hasDbXref UMLS:C4540171, - ORPHA:505216 ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria, iia 9", "MGCA9" ; rdfs:subClassOf OMIMPS:250950 ; + skos:exactMatch UMLS:C4540171, + ORPHA:505216 ; biolink:category biolink:Disease . OMIM:617706 a owl:Class ; rdfs:label "spermatogenic failure 22" ; IAO:0000142 PMID:28206990 ; - oboInOwl:hasDbXref UMLS:C4540179 ; oboInOwl:hasExactSynonym "SPGF22", "spermatogenic failure 22" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4540179 ; biolink:category biolink:Disease . OMIM:617707 a owl:Class ; rdfs:label "spermatogenic failure 23" ; IAO:0000142 PMID:28206990, PMID:29790874 ; - oboInOwl:hasDbXref UMLS:C4540185 ; oboInOwl:hasExactSynonym "SPGF23", "spermatogenic failure 23" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4540185 ; biolink:category biolink:Disease . OMIM:617709 a owl:Class ; rdfs:label "neurodevelopmental disorder with microcephaly, ataxia, and seizures" ; IAO:0000142 PMID:28236339 ; - oboInOwl:hasDbXref UMLS:C4540188 ; oboInOwl:hasExactSynonym "NEDMAS", "neurodevelopmental disorder with microcephaly, ataxia, and seizures" ; + skos:exactMatch UMLS:C4540188 ; biolink:category biolink:Disease . OMIM:617711 a owl:Class ; @@ -462139,39 +478827,39 @@ OMIM:617711 a owl:Class ; PMID:25590979, PMID:28942967, PMID:29432562 ; - oboInOwl:hasDbXref UMLS:C4540199 ; oboInOwl:hasExactSynonym "DEE91", "developmental and epileptic encephalopathy 91", "epileptic encephalopathy, infantile or early childhood, 1" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4540199 ; biolink:category biolink:Disease . OMIM:617712 a owl:Class ; rdfs:label "oocyte maturation defect 3" ; IAO:0000142 PMID:28886344, PMID:30810869 ; - oboInOwl:hasDbXref UMLS:C4540205 ; oboInOwl:hasExactSynonym "OOMD3", "oocyte maturation defect 3" ; rdfs:subClassOf OMIMPS:615774 ; + skos:exactMatch UMLS:C4540205 ; biolink:category biolink:Disease . OMIM:617713 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 33" ; IAO:0000142 PMID:22904065, PMID:28942965 ; - oboInOwl:hasDbXref UMLS:C4540209 ; oboInOwl:hasExactSynonym "COXPD33", "combined oxidative phosphorylation deficiency 33" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4540209 ; biolink:category biolink:Disease . OMIM:617717 a owl:Class ; rdfs:label "auditory neuropathy and optic atrophy" ; IAO:0000142 PMID:28965846 ; - oboInOwl:hasDbXref UMLS:C4521678 ; oboInOwl:hasExactSynonym "ANOA", "auditory neuropathy and optic atrophy" ; + skos:exactMatch UMLS:C4521678 ; biolink:category biolink:Disease . OMIM:617718 a owl:Class ; @@ -462182,21 +478870,21 @@ OMIM:617718 a owl:Class ; PMID:29127144, PMID:30254128, PMID:32499645 ; - oboInOwl:hasDbXref UMLS:C4540232 ; oboInOwl:hasExactSynonym "IMD71", "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia", "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4540232 ; biolink:category biolink:Disease . OMIM:617719 a owl:Class ; rdfs:label "epiphyseal dysplasia, multiple, 7" ; IAO:0000142 PMID:21037275, PMID:28742282 ; - oboInOwl:hasDbXref UMLS:C4540251 ; oboInOwl:hasExactSynonym "EDM7", "epiphyseal dysplasia, multiple, 7" ; rdfs:subClassOf OMIMPS:132400 ; + skos:exactMatch UMLS:C4540251 ; biolink:category biolink:Disease . OMIM:617721 a owl:Class ; @@ -462204,10 +478892,10 @@ OMIM:617721 a owl:Class ; IAO:0000142 PMID:28369220, PMID:31069783, PMID:31321409 ; - oboInOwl:hasDbXref UMLS:C4540265 ; oboInOwl:hasExactSynonym "HMN9", "neuronopathy, distal hereditary motor, iia 9", "neuropathy, distal hereditary motor, iia 9" ; + skos:exactMatch UMLS:C4540265 ; biolink:category biolink:Disease . OMIM:617729 a owl:Class ; @@ -462219,63 +478907,63 @@ OMIM:617729 a owl:Class ; PMID:21791310, PMID:28272532, PMID:28805828 ; - oboInOwl:hasDbXref UMLS:C4540266 ; oboInOwl:hasExactSynonym "GAMOS3", "galloway-mowat syndrome 3" ; rdfs:subClassOf OMIMPS:251300 ; + skos:exactMatch UMLS:C4540266 ; biolink:category biolink:Disease . OMIM:617730 a owl:Class ; rdfs:label "galloway-mowat syndrome 4" ; IAO:0000142 PMID:28805828 ; - oboInOwl:hasDbXref UMLS:C4540270 ; oboInOwl:hasExactSynonym "GAMOS4", "galloway-mowat syndrome 4" ; rdfs:subClassOf OMIMPS:251300 ; + skos:exactMatch UMLS:C4540270 ; biolink:category biolink:Disease . OMIM:617731 a owl:Class ; rdfs:label "galloway-mowat syndrome 5" ; IAO:0000142 PMID:28805828 ; - oboInOwl:hasDbXref UMLS:C4540274 ; oboInOwl:hasExactSynonym "GAMOS5", "galloway-mowat syndrome 5" ; rdfs:subClassOf OMIMPS:251300 ; + skos:exactMatch UMLS:C4540274 ; biolink:category biolink:Disease . OMIM:617732 a owl:Class ; rdfs:label "facial palsy, congenital, with ptosis and velopharyngeal dysfunction" ; IAO:0000142 PMID:29016863 ; - oboInOwl:hasDbXref UMLS:C4540277 ; oboInOwl:hasExactSynonym "FPVEPD", "facial palsy, congenital, with ptosis and velopharyngeal dysfunction" ; + skos:exactMatch UMLS:C4540277 ; biolink:category biolink:Disease . OMIM:617743 a owl:Class ; rdfs:label "oocyte maturation defect 4" ; IAO:0000142 PMID:28965844, PMID:28965849 ; - oboInOwl:hasDbXref UMLS:C4540284 ; oboInOwl:hasExactSynonym "OOMD4", "oocyte maturation defect 4" ; rdfs:subClassOf OMIMPS:615774 ; + skos:exactMatch UMLS:C4540284 ; biolink:category biolink:Disease . OMIM:617744 a owl:Class ; rdfs:label "immunodeficiency, developmental delay, and hypohomocysteinemia" ; IAO:0000142 PMID:29018201 ; - oboInOwl:hasDbXref UMLS:C4540293 ; oboInOwl:hasExactSynonym "IMDDHH", "immunodeficiency, developmental delay, and hypohomocysteinemia" ; + skos:exactMatch UMLS:C4540293 ; biolink:category biolink:Disease . OMIM:617746 a owl:Class ; rdfs:label "sweeney-cox syndrome" ; IAO:0000142 PMID:27884935, PMID:28369379 ; - oboInOwl:hasDbXref UMLS:C4540299 ; oboInOwl:hasExactSynonym "SWCOS", "sweeney-cox syndrome" ; + skos:exactMatch UMLS:C4540299 ; biolink:category biolink:Disease . OMIM:617749 a owl:Class ; @@ -462288,53 +478976,53 @@ OMIM:617749 a owl:Class ; PMID:17627799, PMID:17828264, PMID:18043716 ; - oboInOwl:hasDbXref UMLS:C3888203, - UMLS:C3888204 ; oboInOwl:hasExactSynonym "actn3 deficiency", "alpha-actinin-3 deficiency", "sprinting performance" ; + skos:exactMatch UMLS:C3888203, + UMLS:C3888204 ; biolink:category biolink:Disease . OMIM:617751 a owl:Class ; rdfs:label "mental retardation, autosomal dominant 48" ; IAO:0000142 PMID:28886345 ; - oboInOwl:hasDbXref UMLS:C4540321 ; oboInOwl:hasExactSynonym "MRD48", "mental retardation, autosomal dominant 48" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4540321 ; biolink:category biolink:Disease . OMIM:617755 a owl:Class ; rdfs:label "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" ; IAO:0000142 PMID:28942966 ; - oboInOwl:hasDbXref UMLS:C4540327 ; oboInOwl:hasExactSynonym "NEDDFL", "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" ; + skos:exactMatch UMLS:C4540327 ; biolink:category biolink:Disease . OMIM:617762 a owl:Class ; rdfs:label "leukodystrophy, progressive, early childhood-onset" ; IAO:0000142 PMID:26792856 ; - oboInOwl:hasDbXref UMLS:C4540358 ; oboInOwl:hasExactSynonym "PLDECO", "leukodystrophy, progressive, early childhood-onset" ; + skos:exactMatch UMLS:C4540358 ; biolink:category biolink:Disease . OMIM:617763 a owl:Class ; rdfs:label "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" ; IAO:0000142 PMID:26843489 ; - oboInOwl:hasDbXref UMLS:C4540367 ; oboInOwl:hasExactSynonym "SHRF", "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" ; + skos:exactMatch UMLS:C4540367 ; biolink:category biolink:Disease . OMIM:617765 a owl:Class ; rdfs:label "immunodeficiency, common variable, 14" ; IAO:0000142 PMID:27016798 ; - oboInOwl:hasDbXref UMLS:C4540380 ; oboInOwl:hasExactSynonym "CVID14", "immunodeficiency, common variable, 14" ; rdfs:subClassOf OMIMPS:607594 ; + skos:exactMatch UMLS:C4540380 ; biolink:category biolink:Disease . OMIM:617767 a owl:Class ; @@ -462342,10 +479030,10 @@ OMIM:617767 a owl:Class ; IAO:0000142 PMID:26167768, PMID:29695797, PMID:30858804 ; - oboInOwl:hasDbXref UMLS:C4540389 ; oboInOwl:hasExactSynonym "JBTS33", "joubert syndrome 33" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C4540389 ; biolink:category biolink:Disease . OMIM:617768 a owl:Class ; @@ -462353,30 +479041,30 @@ OMIM:617768 a owl:Class ; IAO:0000142 PMID:22726846, PMID:29069077, PMID:29276005 ; - oboInOwl:hasDbXref UMLS:C4540395 ; oboInOwl:hasExactSynonym "KLEFS2", "kleefstra syndrome 2" ; rdfs:subClassOf OMIMPS:610253 ; + skos:exactMatch UMLS:C4540395 ; biolink:category biolink:Disease . OMIM:617769 a owl:Class ; rdfs:label "spinocerebellar ataxia 45" ; IAO:0000142 PMID:29053796 ; - oboInOwl:hasDbXref UMLS:C4540400 ; oboInOwl:hasExactSynonym "SCA45", "spinocerebellar ataxia 45" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C4540400 ; biolink:category biolink:Disease . OMIM:617770 a owl:Class ; rdfs:label "spinocerebellar ataxia 46" ; IAO:0000142 PMID:29053796, PMID:8595484 ; - oboInOwl:hasDbXref UMLS:C4540404 ; oboInOwl:hasExactSynonym "SCA46", "spinocerebellar ataxia 46", "spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C4540404 ; biolink:category biolink:Disease . OMIM:617771 a owl:Class ; @@ -462385,31 +479073,31 @@ OMIM:617771 a owl:Class ; PMID:29740868, PMID:32038177, PMID:32773162 ; - oboInOwl:hasDbXref UMLS:C4540411 ; oboInOwl:hasExactSynonym "DEE57", "developmental and epileptic encephalopathy 57", "epileptic encephalopathy, early infantile, 57" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4540411 ; biolink:category biolink:Disease . OMIM:617773 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 61" ; IAO:0000142 PMID:27612186 ; - oboInOwl:hasDbXref UMLS:C4540424 ; oboInOwl:hasExactSynonym "MRT61", "alwadei syndrome", "intellectual developmental disorder, autosomal recessive 61", "mental retardation, autosomal recessive 61" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4540424 ; biolink:category biolink:Disease . OMIM:617784 a owl:Class ; rdfs:label "fanconi anemia, complementation group w" ; IAO:0000142 PMID:28691929 ; - oboInOwl:hasDbXref UMLS:C4521564 ; oboInOwl:hasExactSynonym "FANCW", "fanconi anemia, complementation group w" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C4521564 ; biolink:category biolink:Disease . OMIM:617787 a owl:Class ; @@ -462418,11 +479106,11 @@ OMIM:617787 a owl:Class ; PMID:28191889, PMID:28303347, PMID:29656860 ; - oboInOwl:hasDbXref UMLS:C4540470 ; oboInOwl:hasExactSynonym "MRD50", "intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities", "mental retardation, autosomal dominant 50" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4540470 ; biolink:category biolink:Disease . OMIM:617788 a owl:Class ; @@ -462430,10 +479118,10 @@ OMIM:617788 a owl:Class ; IAO:0000142 PMID:25363768, PMID:28191889, PMID:29276005 ; - oboInOwl:hasDbXref UMLS:C4540474 ; oboInOwl:hasExactSynonym "MRD51", "mental retardation, autosomal dominant 51" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4540474 ; biolink:category biolink:Disease . OMIM:617796 a owl:Class ; @@ -462443,11 +479131,11 @@ OMIM:617796 a owl:Class ; PMID:27824329, PMID:28191889, PMID:28394464 ; - oboInOwl:hasDbXref UMLS:C4540478, - ORPHA:178469 ; oboInOwl:hasExactSynonym "MRD52", "mental retardation, autosomal dominant 52" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4540478, + ORPHA:178469 ; biolink:category biolink:Disease . OMIM:617798 a owl:Class ; @@ -462456,30 +479144,30 @@ OMIM:617798 a owl:Class ; PMID:28130356, PMID:29100089, PMID:29560374 ; - oboInOwl:hasDbXref UMLS:C4540481 ; oboInOwl:hasExactSynonym "MRD53", "intellectual developmental disorder, autosomal dominant 53", "mental retardation, autosomal dominant 53" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4540481 ; biolink:category biolink:Disease . OMIM:617799 a owl:Class ; rdfs:label "mental retardation, autosomal dominant 54" ; IAO:0000142 PMID:29100089, PMID:29560374 ; - oboInOwl:hasDbXref UMLS:C4540484 ; oboInOwl:hasExactSynonym "MRD54", "mental retardation, autosomal dominant 54" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4540484 ; biolink:category biolink:Disease . OMIM:617800 a owl:Class ; rdfs:label "microcephaly 19, primary, autosomal recessive" ; IAO:0000142 PMID:29036432 ; - oboInOwl:hasDbXref UMLS:C4540488 ; oboInOwl:hasExactSynonym "MCPH19", "microcephaly 19, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4540488 ; biolink:category biolink:Disease . OMIM:617802 a owl:Class ; @@ -462489,18 +479177,18 @@ OMIM:617802 a owl:Class ; PMID:30275004, PMID:30755602, PMID:30755616 ; - oboInOwl:hasDbXref UMLS:C4540493 ; oboInOwl:hasExactSynonym "NDMSCA", "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" ; + skos:exactMatch UMLS:C4540493 ; biolink:category biolink:Disease . OMIM:617804 a owl:Class ; rdfs:label "neurodevelopmental disorder with severe motor impairment and absent language" ; IAO:0000142 PMID:28327206, PMID:29100085 ; - oboInOwl:hasDbXref UMLS:C4540496 ; oboInOwl:hasExactSynonym "NEDMIAL", "neurodevelopmental disorder with severe motor impairment and absent language" ; + skos:exactMatch UMLS:C4540496 ; biolink:category biolink:Disease . OMIM:617805 a owl:Class ; @@ -462509,18 +479197,18 @@ OMIM:617805 a owl:Class ; PMID:29100090, PMID:29100091, PMID:32378186 ; - oboInOwl:hasDbXref UMLS:C4540497 ; oboInOwl:hasExactSynonym "RHDA3", "renal hypodysplasia/aplasia 3" ; rdfs:subClassOf OMIMPS:191830 ; + skos:exactMatch UMLS:C4540497 ; biolink:category biolink:Disease . OMIM:617807 a owl:Class ; rdfs:label "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter" ; IAO:0000142 PMID:29106825 ; - oboInOwl:hasDbXref UMLS:C4540498 ; oboInOwl:hasExactSynonym "NDAGSCW", "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter" ; + skos:exactMatch UMLS:C4540498 ; biolink:category biolink:Disease . OMIM:617808 a owl:Class ; @@ -462528,48 +479216,48 @@ OMIM:617808 a owl:Class ; IAO:0000142 PMID:26238514, PMID:28124119, PMID:28884947 ; - oboInOwl:hasDbXref UMLS:C4540499 ; oboInOwl:hasExactSynonym "CSS6", "coffin-siris syndrome 6" ; rdfs:subClassOf OMIMPS:135900, OMIMPS:156200 ; + skos:exactMatch UMLS:C4540499 ; biolink:category biolink:Disease . OMIM:617809 a owl:Class ; rdfs:label "geleophysic dysplasia 3" ; IAO:0000142 PMID:27068007 ; - oboInOwl:hasDbXref UMLS:C4540511 ; oboInOwl:hasExactSynonym "GPHYSD3", "geleophysic dysplasia 3" ; rdfs:subClassOf OMIMPS:231050 ; + skos:exactMatch UMLS:C4540511 ; biolink:category biolink:Disease . OMIM:617810 a owl:Class ; rdfs:label "glycosylphosphatidylinositol biosynthesis defect 15" ; IAO:0000142 PMID:29100095 ; - oboInOwl:hasDbXref UMLS:C4540520 ; oboInOwl:hasExactSynonym "GPIBD15", "developmental delay, epilepsy, cerebellar atrophy, and osteopenia", "glycosylphosphatidylinositol biosynthesis defect 15" ; + skos:exactMatch UMLS:C4540520 ; biolink:category biolink:Disease . OMIM:617816 a owl:Class ; rdfs:label "glycosylphosphatidylinositol biosynthesis defect 16" ; IAO:0000142 PMID:27694521 ; - oboInOwl:hasDbXref UMLS:C4540521 ; oboInOwl:hasExactSynonym "GPIBD16", "glycosylphosphatidylinositol biosynthesis defect 16", "mental retardation, autosomal recessive 62" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4540521 ; biolink:category biolink:Disease . OMIM:617820 a owl:Class ; rdfs:label "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" ; IAO:0000142 PMID:27164704, PMID:28051072 ; - oboInOwl:hasDbXref UMLS:C4693325 ; oboInOwl:hasExactSynonym "NDHMSR", "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" ; + skos:exactMatch UMLS:C4693325 ; biolink:category biolink:Disease . OMIM:617822 a owl:Class ; @@ -462577,18 +479265,18 @@ OMIM:617822 a owl:Class ; IAO:0000142 PMID:19640479, PMID:25558065, PMID:29290337 ; - oboInOwl:hasDbXref UMLS:C4693347 ; oboInOwl:hasExactSynonym "ALKKUCS", "alkuraya-kucinskas syndrome" ; + skos:exactMatch UMLS:C4693347 ; biolink:category biolink:Disease . OMIM:617825 a owl:Class ; rdfs:label "glucocorticoid deficiency 5" ; IAO:0000142 PMID:24601690 ; - oboInOwl:hasDbXref UMLS:C4540522 ; oboInOwl:hasExactSynonym "GCCD5", "glucocorticoid deficiency 5" ; rdfs:subClassOf OMIMPS:202200 ; + skos:exactMatch UMLS:C4540522 ; biolink:category biolink:Disease . OMIM:617827 a owl:Class ; @@ -462596,10 +479284,10 @@ OMIM:617827 a owl:Class ; IAO:0000142 PMID:14702466, PMID:17142786, PMID:28414293 ; - oboInOwl:hasDbXref UMLS:C4693356 ; oboInOwl:hasExactSynonym "IMD55", "immunodeficiency 55" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4693356 ; biolink:category biolink:Disease . OMIM:617829 a owl:Class ; @@ -462607,58 +479295,58 @@ OMIM:617829 a owl:Class ; IAO:0000142 PMID:25124326, PMID:27789573, PMID:29100083 ; - oboInOwl:hasDbXref UMLS:C4693362 ; oboInOwl:hasExactSynonym "DEE92", "developmental and epileptic encephalopathy 92", "epileptic encephalopathy, infantile or early childhood, 2" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4693362 ; biolink:category biolink:Disease . OMIM:617831 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 55, with seizures" ; IAO:0000142 PMID:29100083 ; - oboInOwl:hasDbXref UMLS:C4693371 ; oboInOwl:hasExactSynonym "MRD55", "intellectual developmental disorder, autosomal dominant 55, with seizures", "mental retardation, autosomal dominant 55, with seizures" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4693371 ; biolink:category biolink:Disease . OMIM:617854 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 56" ; IAO:0000142 PMID:26822784, PMID:29100083 ; - oboInOwl:hasDbXref UMLS:C4693389 ; oboInOwl:hasExactSynonym "MRD56", "intellectual developmental disorder, autosomal dominant 56", "mental retardation, autosomal dominant 56" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4693389 ; biolink:category biolink:Disease . OMIM:617862 a owl:Class ; rdfs:label "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" ; IAO:0000142 PMID:28397838, PMID:28626029 ; - oboInOwl:hasDbXref UMLS:C4693390 ; oboInOwl:hasExactSynonym "NEDMEBA", "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" ; + skos:exactMatch UMLS:C4693390 ; biolink:category biolink:Disease . OMIM:617864 a owl:Class ; rdfs:label "neurodevelopmental disorder with or without seizures and gait abnormalities" ; IAO:0000142 PMID:29220673 ; - oboInOwl:hasDbXref UMLS:C4693391 ; oboInOwl:hasExactSynonym "NEDSGA", "neurodevelopmental disorder with or without seizures and gait abnormalities" ; + skos:exactMatch UMLS:C4693391 ; biolink:category biolink:Disease . OMIM:617865 a owl:Class ; rdfs:label "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" ; IAO:0000142 PMID:28433741, PMID:29198722 ; - oboInOwl:hasDbXref UMLS:C4693405 ; oboInOwl:hasExactSynonym "NEDMAGA", "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" ; + skos:exactMatch UMLS:C4693405 ; biolink:category biolink:Disease . OMIM:617866 a owl:Class ; @@ -462666,47 +479354,47 @@ OMIM:617866 a owl:Class ; IAO:0000142 PMID:22791528, PMID:24183451, PMID:28400947 ; - oboInOwl:hasDbXref UMLS:C4693420 ; oboInOwl:hasExactSynonym "SRTD18", "short-rib thoracic dysplasia 18 with polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C4693420 ; biolink:category biolink:Disease . OMIM:617872 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 34" ; IAO:0000142 PMID:25556185, PMID:9063420 ; - oboInOwl:hasDbXref UMLS:C4693450 ; oboInOwl:hasExactSynonym "COXPD34", "combined oxidative phosphorylation deficiency 34" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4693450 ; biolink:category biolink:Disease . OMIM:617873 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 35" ; IAO:0000142 PMID:24901367, PMID:28185376 ; - oboInOwl:hasDbXref UMLS:C4693466 ; oboInOwl:hasExactSynonym "COXPD35", "combined oxidative phosphorylation deficiency 35" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4693466 ; biolink:category biolink:Disease . OMIM:617874 a owl:Class ; rdfs:label "polycystic liver disease 3 with or without kidney cysts" ; IAO:0000142 PMID:28375157 ; - oboInOwl:hasDbXref UMLS:C4693472 ; oboInOwl:hasExactSynonym "PCLD3", "polycystic liver disease 3 with or without kidney cysts" ; rdfs:subClassOf OMIMPS:174050 ; + skos:exactMatch UMLS:C4693472 ; biolink:category biolink:Disease . OMIM:617879 a owl:Class ; rdfs:label "leber congenital amaurosis with early-onset deafness" ; IAO:0000142 PMID:29198720 ; - oboInOwl:hasDbXref UMLS:C4693498 ; oboInOwl:hasExactSynonym "LCAEOD", "leber congenital amaurosis with early-onset deafness" ; + skos:exactMatch UMLS:C4693498 ; biolink:category biolink:Disease . OMIM:617885 a owl:Class ; @@ -462714,21 +479402,21 @@ OMIM:617885 a owl:Class ; IAO:0000142 PMID:25044758, PMID:29311636, PMID:29311637 ; - oboInOwl:hasDbXref UMLS:C4693522 ; oboInOwl:hasExactSynonym "BMIQ19", "body mass index quantitative trait locus 19", "obesity, susceptibility to" ; + skos:exactMatch UMLS:C4693522 ; biolink:category biolink:Disease . OMIM:617892 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis, susceptibility to, 24" ; IAO:0000142 PMID:26945885, PMID:27455347 ; - oboInOwl:hasDbXref UMLS:C4693523, - ORPHA:803 ; oboInOwl:hasExactSynonym "ALS24", "amyotrophic lateral sclerosis, susceptibility to, 24" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C4693523, + ORPHA:803 ; biolink:category biolink:Disease . OMIM:617895 a owl:Class ; @@ -462736,20 +479424,20 @@ OMIM:617895 a owl:Class ; IAO:0000142 PMID:22791528, PMID:24183451, PMID:27666822 ; - oboInOwl:hasDbXref UMLS:C4693524 ; oboInOwl:hasExactSynonym "SRTD19", "short-rib thoracic dysplasia 19 with or without polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C4693524 ; biolink:category biolink:Disease . OMIM:617898 a owl:Class ; rdfs:label "multiple synostoses syndrome 4" ; IAO:0000142 PMID:26643732, PMID:29130651 ; - oboInOwl:hasDbXref UMLS:C4693531 ; oboInOwl:hasExactSynonym "SYNS4", "multiple synostoses syndrome 4" ; rdfs:subClassOf OMIMPS:186500 ; + skos:exactMatch UMLS:C4693531 ; biolink:category biolink:Disease . OMIM:617899 a owl:Class ; @@ -462757,21 +479445,21 @@ OMIM:617899 a owl:Class ; IAO:0000142 PMID:27545674, PMID:28931644, PMID:29868776 ; - oboInOwl:hasDbXref UMLS:C4693535 ; oboInOwl:hasExactSynonym "HLD14", "leukodystrophy, hypomyelinating, 14" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C4693535 ; biolink:category biolink:Disease . OMIM:617900 a owl:Class ; rdfs:label "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8" ; IAO:0000142 PMID:22851595, PMID:26513235 ; - oboInOwl:hasDbXref UMLS:C4693542 ; oboInOwl:hasExactSynonym "IIAE8", "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8", "herpes simplex encephalitis, susceptibility to, 6" ; rdfs:subClassOf OMIMPS:610551 ; + skos:exactMatch UMLS:C4693542 ; biolink:category biolink:Disease . OMIM:617912 a owl:Class ; @@ -462787,9 +479475,9 @@ OMIM:617912 a owl:Class ; PMID:25543888, PMID:27066509, PMID:28180938 ; - oboInOwl:hasDbXref UMLS:C4693563 ; oboInOwl:hasExactSynonym "CHTD5", "congenital heart defects, multiple types, 5" ; + skos:exactMatch UMLS:C4693563 ; biolink:category biolink:Disease . OMIM:617913 a owl:Class ; @@ -462797,9 +479485,9 @@ OMIM:617913 a owl:Class ; IAO:0000142 PMID:25558065, PMID:27878435, PMID:30237576 ; - oboInOwl:hasDbXref UMLS:C4693567 ; oboInOwl:hasExactSynonym "NEDMCR", "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities" ; + skos:exactMatch UMLS:C4693567 ; biolink:category biolink:Disease . OMIM:617914 a owl:Class ; @@ -462807,36 +479495,36 @@ OMIM:617914 a owl:Class ; IAO:0000142 PMID:23308235, PMID:28892560, PMID:29343805 ; - oboInOwl:hasDbXref UMLS:C4693572 ; oboInOwl:hasExactSynonym "MCPH20", "microcephaly 20, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4693572 ; biolink:category biolink:Disease . OMIM:617915 a owl:Class ; rdfs:label "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" ; IAO:0000142 PMID:27094857 ; - oboInOwl:hasDbXref UMLS:C4693578 ; oboInOwl:hasExactSynonym "HADDTS", "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" ; + skos:exactMatch UMLS:C4693578 ; biolink:category biolink:Disease . OMIM:617916 a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 7" ; IAO:0000142 PMID:29395073 ; - oboInOwl:hasDbXref UMLS:C4693583 ; oboInOwl:hasExactSynonym "NBIA7", "neurodegeneration with brain iron accumulation 7" ; rdfs:subClassOf OMIMPS:234200 ; + skos:exactMatch UMLS:C4693583 ; biolink:category biolink:Disease . OMIM:617917 a owl:Class ; rdfs:label "neurodegeneration with brain iron accumulation 8" ; IAO:0000142 PMID:29395073 ; - oboInOwl:hasDbXref UMLS:C4693587 ; oboInOwl:hasExactSynonym "NBIA8", "neurodegeneration with brain iron accumulation 8" ; rdfs:subClassOf OMIMPS:234200 ; + skos:exactMatch UMLS:C4693587 ; biolink:category biolink:Disease . OMIM:617920 a owl:Class ; @@ -462844,31 +479532,31 @@ OMIM:617920 a owl:Class ; IAO:0000142 PMID:19416385, PMID:25866143, PMID:29336782 ; - oboInOwl:hasDbXref UMLS:C4554421, - UMLS:C4554601 ; oboInOwl:hasExactSynonym "PLCA3", "amyloidosis cutis dyschromica", "amyloidosis, primary localized cutaneous, 3" ; rdfs:subClassOf OMIMPS:105250 ; + skos:exactMatch UMLS:C4554421, + UMLS:C4554601 ; biolink:category biolink:Disease . OMIM:617921 a owl:Class ; rdfs:label "amyotrophic lateral sclerosis, susceptibility to, 25" ; IAO:0000142 PMID:29342275, PMID:29566793 ; - oboInOwl:hasDbXref UMLS:C4693609 ; oboInOwl:hasExactSynonym "ALS25", "amyotrophic lateral sclerosis, susceptibility to, 25" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C4693609 ; biolink:category biolink:Disease . OMIM:617924 a owl:Class ; rdfs:label "epilepsy, juvenile myoclonic, susceptibility to, 10" ; IAO:0000142 PMID:29539279 ; - oboInOwl:hasDbXref UMLS:C4693613 ; oboInOwl:hasExactSynonym "EJM10", "epilepsy, juvenile myoclonic, susceptibility to, 10" ; rdfs:subClassOf OMIMPS:254770 ; + skos:exactMatch UMLS:C4693613 ; biolink:category biolink:Disease . OMIM:617925 a owl:Class ; @@ -462876,63 +479564,63 @@ OMIM:617925 a owl:Class ; IAO:0000142 PMID:22791528, PMID:24183451, PMID:27158779 ; - oboInOwl:hasDbXref UMLS:C4693616 ; oboInOwl:hasExactSynonym "SRTD20", "short-rib thoracic dysplasia 20 with polydactyly" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C4693616 ; biolink:category biolink:Disease . OMIM:617927 a owl:Class ; rdfs:label "orofaciodigital syndrome 18" ; IAO:0000142 PMID:10457851, PMID:27060890 ; - oboInOwl:hasDbXref UMLS:C4693651 ; oboInOwl:hasExactSynonym "OFD18", "ofds 18", "oral-facial-digital syndrome, iia 18", "orofaciodigital syndrome 18" ; rdfs:subClassOf OMIMPS:311200 ; + skos:exactMatch UMLS:C4693651 ; biolink:category biolink:Disease . OMIM:617928 a owl:Class ; rdfs:label "keratoconus 9" ; IAO:0000142 PMID:29051577 ; - oboInOwl:hasDbXref UMLS:C4693660 ; oboInOwl:hasExactSynonym "KTCN9", "keratoconus 9" ; rdfs:subClassOf OMIMPS:148300 ; + skos:exactMatch UMLS:C4693660 ; biolink:category biolink:Disease . OMIM:617929 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 60" ; IAO:0000142 PMID:29394991 ; - oboInOwl:hasDbXref UMLS:C4693663, - ORPHA:3451 ; oboInOwl:hasExactSynonym "DEE60", "developmental and epileptic encephalopathy 60", "epileptic encephalopathy, early infantile, 60" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4693663, + ORPHA:3451 ; biolink:category biolink:Disease . OMIM:617931 a owl:Class ; rdfs:label "spinocerebellar ataxia 47" ; IAO:0000142 PMID:25768905, PMID:29474920 ; - oboInOwl:hasDbXref UMLS:C4693672 ; oboInOwl:hasExactSynonym "SCA47", "spinocerebellar ataxia 47" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C4693672 ; biolink:category biolink:Disease . OMIM:617933 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 61" ; IAO:0000142 PMID:27066583, PMID:30237576 ; - oboInOwl:hasDbXref UMLS:C4693688 ; oboInOwl:hasExactSynonym "DEE61", "developmental and epileptic encephalopathy 61", "epileptic encephalopathy, early infantile, 61" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4693688 ; biolink:category biolink:Disease . OMIM:617935 a owl:Class ; @@ -462941,10 +479629,10 @@ OMIM:617935 a owl:Class ; PMID:24157691, PMID:28235671, PMID:29466837 ; - oboInOwl:hasDbXref UMLS:C4693694 ; oboInOwl:hasExactSynonym "FFEVF4", "epilepsy, familial focal, with variable foci 4" ; rdfs:subClassOf OMIMPS:604364 ; + skos:exactMatch UMLS:C4693694 ; biolink:category biolink:Disease . OMIM:617936 a owl:Class ; @@ -462970,10 +479658,6 @@ OMIM:617936 a owl:Class ; PMID:5634910, PMID:6059535, PMID:8554068 ; - oboInOwl:hasDbXref UMLS:C0268379, - UMLS:C1283400, - UMLS:C1867467, - ORPHA:132 ; oboInOwl:hasExactSynonym "BCHED", "acholinesterasemia", "apnea, postanesthetic", @@ -462982,61 +479666,65 @@ OMIM:617936 a owl:Class ; "hypocholinesterasemia, fluoride-resistant, japanese iia", "pseudocholinesterase deficiency", "suxamethonium sensitivity" ; + skos:exactMatch UMLS:C0268379, + UMLS:C1283400, + UMLS:C1867467, + ORPHA:132 ; biolink:category biolink:Disease . OMIM:617941 a owl:Class ; rdfs:label "shwachman-diamond syndrome 2" ; IAO:0000142 PMID:28331068 ; - oboInOwl:hasDbXref UMLS:C4693704 ; oboInOwl:hasExactSynonym "SDS2", "shwachman-diamond syndrome 2" ; rdfs:subClassOf OMIMPS:260400 ; + skos:exactMatch UMLS:C4693704 ; biolink:category biolink:Disease . OMIM:617950 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 36" ; IAO:0000142 PMID:29576219 ; - oboInOwl:hasDbXref UMLS:C4693722 ; oboInOwl:hasExactSynonym "COXPD36", "combined oxidative phosphorylation deficiency 36" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C4693722 ; biolink:category biolink:Disease . OMIM:617951 a owl:Class ; rdfs:label "leukodystrophy, hypomyelinating, 15" ; IAO:0000142 PMID:29576217 ; - oboInOwl:hasDbXref UMLS:C4693733 ; oboInOwl:hasExactSynonym "HLD15", "leukodystrophy, hypomyelinating, 15" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C4693733 ; biolink:category biolink:Disease . OMIM:617952 a owl:Class ; rdfs:label "osteogenesis imperfecta, iia 18" ; IAO:0000142 PMID:29358272 ; - oboInOwl:hasDbXref UMLS:C4693736 ; oboInOwl:hasExactSynonym "OI18", "osteogenesis imperfecta, iia 18" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C4693736 ; biolink:category biolink:Disease . OMIM:617954 a owl:Class ; rdfs:label "multiple mitochondrial dysfunctions syndrome 6" ; IAO:0000142 PMID:29576218 ; - oboInOwl:hasDbXref UMLS:C4693741 ; oboInOwl:hasExactSynonym "MMDS6", "multiple mitochondrial dysfunctions syndrome 6" ; rdfs:subClassOf OMIMPS:605711 ; + skos:exactMatch UMLS:C4693741 ; biolink:category biolink:Disease . OMIM:617959 a owl:Class ; rdfs:label "spermatogenic failure 24" ; IAO:0000142 PMID:29606301, PMID:30415212 ; - oboInOwl:hasDbXref UMLS:C4693751 ; oboInOwl:hasExactSynonym "SPGF24", "spermatogenic failure 24" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4693751 ; biolink:category biolink:Disease . OMIM:617960 a owl:Class ; @@ -463044,38 +479732,38 @@ OMIM:617960 a owl:Class ; IAO:0000142 PMID:26199321, PMID:28303806, PMID:28355598 ; - oboInOwl:hasDbXref UMLS:C4693765 ; oboInOwl:hasExactSynonym "SPGF25", "spermatogenic failure 25" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4693765 ; biolink:category biolink:Disease . OMIM:617961 a owl:Class ; rdfs:label "spermatogenic failure 26" ; IAO:0000142 PMID:28905369 ; - oboInOwl:hasDbXref UMLS:C4693773 ; oboInOwl:hasExactSynonym "SPGF26", "spermatogenic failure 26" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4693773 ; biolink:category biolink:Disease . OMIM:617964 a owl:Class ; rdfs:label "leukodystrophy, hypomyelinating, 16" ; IAO:0000142 PMID:29186371, PMID:29444210 ; - oboInOwl:hasDbXref UMLS:C4693779 ; oboInOwl:hasExactSynonym "HLD16", "leukodystrophy, hypomyelinating, 16" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C4693779 ; biolink:category biolink:Disease . OMIM:617965 a owl:Class ; rdfs:label "spermatogenic failure 27" ; IAO:0000142 PMID:29365104 ; - oboInOwl:hasDbXref UMLS:C4693784 ; oboInOwl:hasExactSynonym "SPGF27", "spermatogenic failure 27" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4693784 ; biolink:category biolink:Disease . OMIM:617966 a owl:Class ; @@ -463089,21 +479777,21 @@ OMIM:617966 a owl:Class ; PMID:20686565, PMID:25390462, PMID:25714173 ; - oboInOwl:hasDbXref UMLS:C4693795, - UMLS:C4694051 ; oboInOwl:hasExactSynonym "LDLCQ7", "ezetimibe, response to", "low density lipoprotein cholesterol level quantitative trait locus 7" ; + skos:exactMatch UMLS:C4693795, + UMLS:C4694051 ; biolink:category biolink:Disease . OMIM:617967 a owl:Class ; rdfs:label "hydrocephalus, congenital, 3, with brain anomalies" ; IAO:0000142 PMID:28556411 ; - oboInOwl:hasDbXref UMLS:C4747885 ; oboInOwl:hasExactSynonym "HYC3", "hydrocephalus, congenital, 3, with brain anomalies", "hydrocephalus, nonsyndromic, autosomal recessive 3, formerly" ; rdfs:subClassOf OMIMPS:236600 ; + skos:exactMatch UMLS:C4747885 ; biolink:category biolink:Disease . OMIM:617970 a owl:Class ; @@ -463116,28 +479804,28 @@ OMIM:617970 a owl:Class ; PMID:4627672, PMID:9657766, PMID:9657769 ; - oboInOwl:hasDbXref UMLS:C4693796 ; oboInOwl:hasExactSynonym "RHNA", "rh-null, amorph iia" ; + skos:exactMatch UMLS:C4693796 ; biolink:category biolink:Disease . OMIM:617974 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, di rocco iia" ; IAO:0000142 PMID:28892125 ; - oboInOwl:hasDbXref UMLS:C4693799 ; oboInOwl:hasExactSynonym "SEMDDR", "spondyloepimetaphyseal dysplasia, di rocco iia" ; + skos:exactMatch UMLS:C4693799 ; biolink:category biolink:Disease . OMIM:617976 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 63" ; IAO:0000142 PMID:26539891, PMID:28422131 ; - oboInOwl:hasDbXref UMLS:C4693810 ; oboInOwl:hasExactSynonym "DEE63", "developmental and epileptic encephalopathy 63", "epileptic encephalopathy, early infantile, 63" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4693810 ; biolink:category biolink:Disease . OMIM:617977 a owl:Class ; @@ -463145,10 +479833,10 @@ OMIM:617977 a owl:Class ; IAO:0000142 PMID:21937992, PMID:27431290, PMID:28503735 ; - oboInOwl:hasDbXref UMLS:C4693816 ; oboInOwl:hasExactSynonym "NEDSBAS", "elhattab-alkuraya syndrome", "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" ; + skos:exactMatch UMLS:C4693816 ; biolink:category biolink:Disease . OMIM:617982 a owl:Class ; @@ -463156,46 +479844,46 @@ OMIM:617982 a owl:Class ; IAO:0000142 PMID:19344873, PMID:28692176, PMID:30281152 ; - oboInOwl:hasDbXref UMLS:C4693824 ; oboInOwl:hasExactSynonym "VERBRAS", "ververi-brady syndrome" ; + skos:exactMatch UMLS:C4693824 ; biolink:category biolink:Disease . OMIM:617983 a owl:Class ; rdfs:label "microcephaly 21, primary, autosomal recessive" ; IAO:0000142 PMID:27737959, PMID:28097321 ; - oboInOwl:hasDbXref UMLS:C4693831 ; oboInOwl:hasExactSynonym "MCPH21", "microcephaly 21, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4693831 ; biolink:category biolink:Disease . OMIM:617984 a owl:Class ; rdfs:label "microcephaly 22, primary, autosomal recessive" ; IAO:0000142 PMID:27737959 ; - oboInOwl:hasDbXref UMLS:C4693834 ; oboInOwl:hasExactSynonym "MCPH22", "microcephaly 22, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4693834 ; biolink:category biolink:Disease . OMIM:617985 a owl:Class ; rdfs:label "microcephaly 23, primary, autosomal recessive" ; IAO:0000142 PMID:27737959 ; - oboInOwl:hasDbXref UMLS:C4693843 ; oboInOwl:hasExactSynonym "MCPH23", "microcephaly 23, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4693843 ; biolink:category biolink:Disease . OMIM:617988 a owl:Class ; rdfs:label "jaberi-elahi syndrome" ; IAO:0000142 PMID:26675814, PMID:29449720 ; - oboInOwl:hasDbXref UMLS:C4693848 ; oboInOwl:hasExactSynonym "JABELS", "jaberi-elahi syndrome" ; + skos:exactMatch UMLS:C4693848 ; biolink:category biolink:Disease . OMIM:617991 a owl:Class ; @@ -463203,10 +479891,10 @@ OMIM:617991 a owl:Class ; IAO:0000142 PMID:23033978, PMID:27900362, PMID:29209020 ; - oboInOwl:hasDbXref UMLS:C4693860 ; oboInOwl:hasExactSynonym "CHUJANS", "chung-jansen syndrome", "developmental delay, intellectual disability, obesity, and dysmorphism" ; + skos:exactMatch UMLS:C4693860 ; biolink:category biolink:Disease . OMIM:617993 a owl:Class ; @@ -463217,10 +479905,10 @@ OMIM:617993 a owl:Class ; PMID:16030159, PMID:16151858, PMID:20358599 ; - oboInOwl:hasDbXref UMLS:C4693863, - ORPHA:306661 ; oboInOwl:hasExactSynonym "HFTC2", "tumoral calcinosis, hyperphosphatemic, familial, 2" ; + skos:exactMatch UMLS:C4693863, + ORPHA:306661 ; biolink:category biolink:Disease . OMIM:617994 a owl:Class ; @@ -463230,101 +479918,101 @@ OMIM:617994 a owl:Class ; PMID:16151858, PMID:17710231, PMID:20358599 ; - oboInOwl:hasDbXref UMLS:C4693864, - ORPHA:306661 ; oboInOwl:hasExactSynonym "HFTC3", "tumoral calcinosis, hyperphosphatemic, familial, 3" ; + skos:exactMatch UMLS:C4693864, + ORPHA:306661 ; biolink:category biolink:Disease . OMIM:617995 a owl:Class ; rdfs:label "impdh2 enzyme activity, variation 1n" ; IAO:0000142 PMID:17496727 ; - oboInOwl:hasDbXref UMLS:C3888196 ; oboInOwl:hasExactSynonym "IMPDH2V", "impdh2 enzyme activity, variation 1n" ; + skos:exactMatch UMLS:C3888196 ; biolink:category biolink:Disease . OMIM:617996 a owl:Class ; rdfs:label "oocyte maturation defect 5" ; IAO:0000142 PMID:29606300, PMID:30628060 ; - oboInOwl:hasDbXref UMLS:C4693865 ; oboInOwl:hasExactSynonym "OOMD5", "oocyte maturation defect 5" ; rdfs:subClassOf OMIMPS:615774 ; + skos:exactMatch UMLS:C4693865 ; biolink:category biolink:Disease . OMIM:618000 a owl:Class ; rdfs:label "ehlers-danlos syndrome, classic-like, 2" ; IAO:0000142 PMID:27023906, PMID:29606302 ; - oboInOwl:hasDbXref UMLS:C4693870 ; oboInOwl:hasExactSynonym "EDSCLL2", "ehlers-danlos syndrome, classic-like, 2" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C4693870 ; biolink:category biolink:Disease . OMIM:618004 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 64" ; IAO:0000142 PMID:29276004 ; - oboInOwl:hasDbXref UMLS:C4693899 ; oboInOwl:hasExactSynonym "DEE64", "developmental and epileptic encephalopathy 64", "epileptic encephalopathy, early infantile, 64" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4693899 ; biolink:category biolink:Disease . OMIM:618005 a owl:Class ; rdfs:label "congenital disorder of glycosylation with defective fucosylation 1" ; IAO:0000142 PMID:16236725, PMID:29304374 ; - oboInOwl:hasDbXref UMLS:C4693905 ; oboInOwl:hasExactSynonym "CDGF1", "cdgf", "congenital disorder of glycosylation with defective fucosylation 1" ; rdfs:subClassOf OMIMPS:618005 ; + skos:exactMatch UMLS:C4693905 ; biolink:category biolink:Disease . OMIM:618006 a owl:Class ; rdfs:label "leukodystrophy, hypomyelinating, 17" ; IAO:0000142 PMID:12060739, PMID:29215095 ; - oboInOwl:hasDbXref UMLS:C4693912 ; oboInOwl:hasExactSynonym "HLD17", "leukodystrophy, hypomyelinating, 17" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C4693912 ; biolink:category biolink:Disease . OMIM:618008 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 65" ; IAO:0000142 PMID:29534297, PMID:30664714 ; - oboInOwl:hasDbXref UMLS:C4693925, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE65", "developmental and epileptic encephalopathy 65", "epileptic encephalopathy, early infantile, 65" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4693925, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:618009 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 61" ; IAO:0000142 PMID:29740699 ; - oboInOwl:hasDbXref UMLS:C5231400, - ORPHA:528084 ; oboInOwl:hasExactSynonym "MRD61", "intellectual developmental disorder, autosomal dominant 61", "mental retardation, autosomal dominant 61" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C5231400, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:618010 a owl:Class ; rdfs:label "glycosylphosphatidylinositol biosynthesis defect 17" ; IAO:0000142 PMID:29573052, PMID:29603516 ; - oboInOwl:hasDbXref UMLS:C4747891 ; oboInOwl:hasExactSynonym "GPIBD17", "glycosylphosphatidylinositol biosynthesis defect 17" ; + skos:exactMatch UMLS:C4747891 ; biolink:category biolink:Disease . OMIM:618011 a owl:Class ; @@ -463333,28 +480021,28 @@ OMIM:618011 a owl:Class ; PMID:28180185, PMID:29390050, PMID:29659736 ; - oboInOwl:hasDbXref UMLS:C4693933 ; oboInOwl:hasExactSynonym "HKPX4", "hyperekplexia 4" ; rdfs:subClassOf OMIMPS:149400 ; + skos:exactMatch UMLS:C4693933 ; biolink:category biolink:Disease . OMIM:618012 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 93" ; IAO:0000142 PMID:29668857 ; - oboInOwl:hasDbXref UMLS:C4693934 ; oboInOwl:hasExactSynonym "DEE93", "developmental and epileptic encephalopathy 93" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4693934 ; biolink:category biolink:Disease . OMIM:618013 a owl:Class ; rdfs:label "deafness, autosomal recessive 109" ; IAO:0000142 PMID:29107558 ; - oboInOwl:hasDbXref UMLS:C4693935 ; oboInOwl:hasExactSynonym "DFNB109", "deafness, autosomal recessive 109" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4693935 ; biolink:category biolink:Disease . OMIM:618014 a owl:Class ; @@ -463362,19 +480050,19 @@ OMIM:618014 a owl:Class ; IAO:0000142 PMID:24939957, PMID:27603904, PMID:29044499 ; - oboInOwl:hasDbXref UMLS:C4693941 ; oboInOwl:hasExactSynonym "POF14", "premature ovarian failure 14" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C4693941 ; biolink:category biolink:Disease . OMIM:618015 a owl:Class ; rdfs:label "protoporphyria, erythropoietic, 2" ; IAO:0000142 PMID:28874591 ; - oboInOwl:hasDbXref UMLS:C4693947 ; oboInOwl:hasExactSynonym "EPP2", "protoporphyria, erythropoietic, 2" ; rdfs:subClassOf OMIMPS:177000 ; + skos:exactMatch UMLS:C4693947 ; biolink:category biolink:Disease . OMIM:618018 a owl:Class ; @@ -463382,8 +480070,8 @@ OMIM:618018 a owl:Class ; IAO:0000142 PMID:15365880, PMID:26721703, PMID:28378927 ; - oboInOwl:hasDbXref UMLS:C4693948 ; oboInOwl:hasExactSynonym "drug metabolism, altered, cyp2c8-related" ; + skos:exactMatch UMLS:C4693948 ; biolink:category biolink:Disease . OMIM:618021 a owl:Class ; @@ -463391,30 +480079,31 @@ OMIM:618021 a owl:Class ; IAO:0000142 PMID:18837045, PMID:29769720, PMID:8030673 ; - oboInOwl:hasDbXref UMLS:C4747923 ; oboInOwl:hasExactSynonym "TETAMS2", "tetraamelia syndrome 2", "tetraamelia syndrome 2 with pulmonary agenesis" ; + skos:exactMatch UMLS:C4747923 ; biolink:category biolink:Disease . OMIM:618026 a owl:Class ; rdfs:label "notch2 n-terminal-like r" ; IAO:0000142 PMID:29856954, PMID:29856955 ; - oboInOwl:hasDbXref UMLS:C4747953 ; oboInOwl:hasExactSynonym "NOTCH2NLR", "notch2 n-terminal-like r", "notch2 n-terminal-like-related, pseudogene" ; - skos:exactMatch HGNC_symbol:NOTCH2NLR . + skos:exactMatch UMLS:C4747953, + HGNC:53925, + HGNC_symbol:NOTCH2NLR . OMIM:618027 a owl:Class ; rdfs:label "coffin-siris syndrome 7" ; IAO:0000142 PMID:29429572 ; - oboInOwl:hasDbXref UMLS:C4747954 ; oboInOwl:hasExactSynonym "CSS7", "coffin-siris syndrome 7" ; rdfs:subClassOf OMIMPS:135900, OMIMPS:156200 ; + skos:exactMatch UMLS:C4747954 ; biolink:category biolink:Disease . OMIM:618048 a owl:Class ; @@ -463422,29 +480111,29 @@ OMIM:618048 a owl:Class ; IAO:0000142 PMID:12022327, PMID:26524591, PMID:29805043 ; - oboInOwl:hasDbXref UMLS:C4747989 ; oboInOwl:hasExactSynonym "PRAAS2", "proteasome-associated autoinflammatory syndrome 2" ; rdfs:subClassOf OMIMPS:256040 ; + skos:exactMatch UMLS:C4747989 ; biolink:category biolink:Disease . OMIM:618049 a owl:Class ; rdfs:label "parkinsonism-dystonia 2, infantile-onset" ; IAO:0000142 PMID:23363473 ; - oboInOwl:hasDbXref UMLS:C4747991 ; oboInOwl:hasExactSynonym "PKDYS2", "parkinsonism-dystonia 2, infantile-onset" ; rdfs:subClassOf OMIMPS:613135 ; + skos:exactMatch UMLS:C4747991 ; biolink:category biolink:Disease . OMIM:618050 a owl:Class ; rdfs:label "mental retardation, autosomal dominant 57" ; IAO:0000142 PMID:27479843, PMID:29861108 ; - oboInOwl:hasDbXref UMLS:C4748003 ; oboInOwl:hasExactSynonym "MRD57", "mental retardation, autosomal dominant 57" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4748003 ; biolink:category biolink:Disease . OMIM:618052 a owl:Class ; @@ -463453,10 +480142,10 @@ OMIM:618052 a owl:Class ; PMID:27106955, PMID:28223422, PMID:28630369 ; - oboInOwl:hasDbXref UMLS:C4748014 ; oboInOwl:hasExactSynonym "CMH27", "cardiomyopathy, familial hypertrophic 27" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C4748014 ; biolink:category biolink:Disease . OMIM:618057 a owl:Class ; @@ -463468,92 +480157,92 @@ OMIM:618057 a owl:Class ; PMID:28087982, PMID:3669745, PMID:3718875 ; - oboInOwl:hasDbXref UMLS:C1861889, - UMLS:C4748035, - UMLS:C4749152 ; oboInOwl:hasExactSynonym "carboxylesterase 1 deficiency", "drug metabolism, altered, ces1-related", "monocyte esterase deficiency" ; + skos:exactMatch UMLS:C1861889, + UMLS:C4748035, + UMLS:C4749152 ; biolink:category biolink:Disease . OMIM:618060 a owl:Class ; rdfs:label "intellectual developmental disorder with or without epilepsy or cerebellar ataxia" ; IAO:0000142 PMID:29656859 ; - oboInOwl:hasDbXref UMLS:C4748041 ; oboInOwl:hasExactSynonym "IDDECA", "intellectual developmental disorder with or without epilepsy or cerebellar ataxia" ; + skos:exactMatch UMLS:C4748041 ; biolink:category biolink:Disease . OMIM:618061 a owl:Class ; rdfs:label "polycystic kidney disease 6 with or without polycystic liver disease" ; IAO:0000142 PMID:29706351, PMID:31488840 ; - oboInOwl:hasDbXref UMLS:C4748044 ; oboInOwl:hasExactSynonym "PKD6", "polycystic kidney disease 6 with or without polycystic liver disease" ; rdfs:subClassOf OMIMPS:173900 ; + skos:exactMatch UMLS:C4748044 ; biolink:category biolink:Disease . OMIM:618063 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 38" ; IAO:0000142 PMID:29727692, PMID:29727693 ; - oboInOwl:hasDbXref UMLS:C4748052 ; oboInOwl:hasExactSynonym "CILD38", "ciliary dyskinesia, primary, 38", "ciliary dyskinesia, primary, 38, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4748052 ; biolink:category biolink:Disease . OMIM:618065 a owl:Class ; rdfs:label "pontocerebellar hypoplasia, iia 1d" ; IAO:0000142 PMID:29727687, PMID:30690203 ; - oboInOwl:hasDbXref UMLS:C4748058 ; oboInOwl:hasExactSynonym "PCH1D", "pontocerebellar hypoplasia, iia 1d" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C4748058 ; biolink:category biolink:Disease . OMIM:618067 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 66" ; IAO:0000142 PMID:29656858 ; - oboInOwl:hasDbXref UMLS:C4748070 ; oboInOwl:hasExactSynonym "DEE66", "developmental and epileptic encephalopathy 66", "epileptic encephalopathy, early infantile, 66" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4748070 ; biolink:category biolink:Disease . OMIM:618074 a owl:Class ; rdfs:label "epilepsy, familial adult myoclonic, 6" ; IAO:0000142 PMID:29507423 ; - oboInOwl:hasDbXref UMLS:C4748079 ; oboInOwl:hasExactSynonym "FAME6", "benign adult familial myoclonic epilepsy 6", "cortical myoclonic tremor with epilepsy, familial, 6", "epilepsy, familial adult myoclonic, 6" ; rdfs:subClassOf OMIMPS:601068 ; + skos:exactMatch UMLS:C4748079 ; biolink:category biolink:Disease . OMIM:618075 a owl:Class ; rdfs:label "epilepsy, familial adult myoclonic, 7" ; IAO:0000142 PMID:29507423 ; - oboInOwl:hasDbXref UMLS:C4748080 ; oboInOwl:hasExactSynonym "FAME7", "benign adult familial myoclonic epilepsy 7", "cortical myoclonic tremor with epilepsy, familial, 7", "epilepsy, familial adult myoclonic, 7" ; rdfs:subClassOf OMIMPS:601068 ; + skos:exactMatch UMLS:C4748080 ; biolink:category biolink:Disease . OMIM:618076 a owl:Class ; rdfs:label "neurodevelopmental disorder with spasticity and poor growth" ; IAO:0000142 PMID:27431290, PMID:29868776 ; - oboInOwl:hasDbXref UMLS:C4748081 ; oboInOwl:hasExactSynonym "NEDSG", "neurodevelopmental disorder with spasticity and poor growth" ; + skos:exactMatch UMLS:C4748081 ; biolink:category biolink:Disease . OMIM:618077 a owl:Class ; @@ -463562,18 +480251,18 @@ OMIM:618077 a owl:Class ; PMID:23128233, PMID:28436939, PMID:29420262 ; - oboInOwl:hasDbXref UMLS:C4748083 ; oboInOwl:hasExactSynonym "IBD29", "inflammatory bowel disease 29" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C4748083 ; biolink:category biolink:Disease . OMIM:618079 a owl:Class ; rdfs:label "low density lipoprotein cholesterol level quantitative trait locus 8" ; IAO:0000142 PMID:29880681 ; - oboInOwl:hasDbXref UMLS:C4748092 ; oboInOwl:hasExactSynonym "LDLCQ8", "low density lipoprotein cholesterol level quantitative trait locus 8" ; + skos:exactMatch UMLS:C4748092 ; biolink:category biolink:Disease . OMIM:618084 a owl:Class ; @@ -463581,37 +480270,37 @@ OMIM:618084 a owl:Class ; IAO:0000142 PMID:28884927, PMID:29505760, PMID:29758285 ; - oboInOwl:hasDbXref UMLS:C4748093 ; oboInOwl:hasExactSynonym "PSS6", "peeling skin syndrome 6" ; rdfs:subClassOf OMIMPS:270300 ; + skos:exactMatch UMLS:C4748093 ; biolink:category biolink:Disease . OMIM:618086 a owl:Class ; rdfs:label "spermatogenic failure 28" ; IAO:0000142 PMID:29895858, PMID:30075111 ; - oboInOwl:hasDbXref UMLS:C4748117 ; oboInOwl:hasExactSynonym "SPGF28", "spermatogenic failure 28" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4748117 ; biolink:category biolink:Disease . OMIM:618087 a owl:Class ; rdfs:label "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" ; IAO:0000142 PMID:29878067 ; - oboInOwl:hasDbXref UMLS:C4748120 ; oboInOwl:hasExactSynonym "SCA42ND", "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" ; + skos:exactMatch UMLS:C4748120 ; biolink:category biolink:Disease . OMIM:618088 a owl:Class ; rdfs:label "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" ; IAO:0000142 PMID:30057031, PMID:30166628 ; - oboInOwl:hasDbXref UMLS:C4748127 ; oboInOwl:hasExactSynonym "NEDAMSS", "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" ; + skos:exactMatch UMLS:C4748127 ; biolink:category biolink:Disease . OMIM:618089 a owl:Class ; @@ -463620,52 +480309,52 @@ OMIM:618089 a owl:Class ; PMID:29796876, PMID:30057029, PMID:30679813 ; - oboInOwl:hasDbXref UMLS:C4748135 ; oboInOwl:hasExactSynonym "IDDFBA", "intellectual developmental disorder with dysmorphic facies and behavioral abnormalities" ; + skos:exactMatch UMLS:C4748135 ; biolink:category biolink:Disease . OMIM:618090 a owl:Class ; rdfs:label "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" ; IAO:0000142 PMID:30032983 ; - oboInOwl:hasDbXref UMLS:C4748137 ; oboInOwl:hasExactSynonym "NEDEHCC", "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" ; + skos:exactMatch UMLS:C4748137 ; biolink:category biolink:Disease . OMIM:618091 a owl:Class ; rdfs:label "spermatogenic failure 29" ; IAO:0000142 PMID:28554943 ; - oboInOwl:hasDbXref UMLS:C4748142 ; oboInOwl:hasExactSynonym "SPGF29", "spermatogenic failure 29" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4748142 ; biolink:category biolink:Disease . OMIM:618092 a owl:Class ; rdfs:label "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" ; IAO:0000142 PMID:29985992 ; - oboInOwl:hasDbXref UMLS:C4748152 ; oboInOwl:hasExactSynonym "IDDSFTA", "intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" ; + skos:exactMatch UMLS:C4748152 ; biolink:category biolink:Disease . OMIM:618097 a owl:Class ; rdfs:label "microcephaly, growth restriction, and increased sister chromatid exchange 2" ; IAO:0000142 PMID:30057030 ; - oboInOwl:hasDbXref UMLS:C4748176 ; oboInOwl:hasExactSynonym "MGRISCE2", "microcephaly, growth restriction, and increased sister chromatid exchange 2" ; rdfs:subClassOf OMIMPS:210900 ; + skos:exactMatch UMLS:C4748176 ; biolink:category biolink:Disease . OMIM:618103 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 64" ; - oboInOwl:hasDbXref UMLS:C4748192 ; oboInOwl:hasExactSynonym "MRT64", "intellectual developmental disorder, autosomal recessive 64", "mental retardation, autosomal recessive 64" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4748192 ; biolink:category biolink:Disease . OMIM:618106 a owl:Class ; @@ -463673,29 +480362,29 @@ OMIM:618106 a owl:Class ; IAO:0000142 PMID:25356899, PMID:28135719, PMID:29688601 ; - oboInOwl:hasDbXref UMLS:C4748195 ; oboInOwl:hasExactSynonym "MRD58", "mental retardation, autosomal dominant 58" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C4748195 ; biolink:category biolink:Disease . OMIM:618107 a owl:Class ; rdfs:label "osteopetrosis, autosomal dominant 3" ; IAO:0000142 PMID:17997709, PMID:27291868 ; - oboInOwl:hasDbXref UMLS:C4748197 ; oboInOwl:hasExactSynonym "OPTA3", "osteopetrosis, autosomal dominant 3" ; rdfs:subClassOf OMIMPS:607634 ; + skos:exactMatch UMLS:C4748197 ; biolink:category biolink:Disease . OMIM:618108 a owl:Class ; rdfs:label "immunodeficiency 57 with autoinflammation" ; IAO:0000142 PMID:30026316 ; - oboInOwl:hasDbXref UMLS:C4748212 ; oboInOwl:hasExactSynonym "IMD57", "immunodeficiency 57 with autoinflammation" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4748212 ; biolink:category biolink:Disease . OMIM:618109 a owl:Class ; @@ -463703,21 +480392,21 @@ OMIM:618109 a owl:Class ; IAO:0000142 PMID:23637629, PMID:29276005, PMID:30409806 ; - oboInOwl:hasDbXref UMLS:C4748219, - ORPHA:88616 ; oboInOwl:hasExactSynonym "MRT65", "intellectual developmental disorder, autosomal recessive 65", "mental retardation, autosomal recessive 65" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4748219, + ORPHA:88616 ; biolink:category biolink:Disease . OMIM:618110 a owl:Class ; rdfs:label "spermatogenic failure 30" ; IAO:0000142 PMID:28536242 ; - oboInOwl:hasDbXref UMLS:C4748224 ; oboInOwl:hasExactSynonym "SPGF30", "spermatogenic failure 30" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4748224 ; biolink:category biolink:Disease . OMIM:618112 a owl:Class ; @@ -463725,10 +480414,10 @@ OMIM:618112 a owl:Class ; IAO:0000142 PMID:27640305, PMID:30032984, PMID:30298696 ; - oboInOwl:hasDbXref UMLS:C4748234 ; oboInOwl:hasExactSynonym "SPGF31", "spermatogenic failure 31" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4748234 ; biolink:category biolink:Disease . OMIM:618113 a owl:Class ; @@ -463736,20 +480425,20 @@ OMIM:618113 a owl:Class ; IAO:0000142 PMID:20042198, PMID:22956843, PMID:29265453 ; - oboInOwl:hasDbXref UMLS:C4722446 ; oboInOwl:hasExactSynonym "MMERV", "encephalitis/encephalopathy, mild, with reversible myelin vacuolization", "encephalitis/encephalopathy, mild, with reversible splenial lesion" ; + skos:exactMatch UMLS:C4722446 ; biolink:category biolink:Disease . OMIM:618115 a owl:Class ; rdfs:label "spermatogenic failure 32" ; IAO:0000142 PMID:20506135, PMID:28718531 ; - oboInOwl:hasDbXref UMLS:C4748253 ; oboInOwl:hasExactSynonym "SPGF32", "spermatogenic failure 32" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4748253 ; biolink:category biolink:Disease . OMIM:618116 a owl:Class ; @@ -463758,30 +480447,30 @@ OMIM:618116 a owl:Class ; PMID:24288411, PMID:26220525, PMID:28115216 ; - oboInOwl:hasDbXref UMLS:C4748257 ; oboInOwl:hasExactSynonym "BMFS4", "bone marrow failure syndrome 4" ; rdfs:subClassOf OMIMPS:614675 ; + skos:exactMatch UMLS:C4748257 ; biolink:category biolink:Disease . OMIM:618117 a owl:Class ; rdfs:label "ovarian dysgenesis 7" ; IAO:0000142 PMID:29566152, PMID:8626842 ; - oboInOwl:hasDbXref UMLS:C4748263 ; oboInOwl:hasExactSynonym "ODG7", "ovarian dysgenesis 7" ; rdfs:subClassOf OMIMPS:233300 ; + skos:exactMatch UMLS:C4748263 ; biolink:category biolink:Disease . OMIM:618120 a owl:Class ; rdfs:label "mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 5" ; IAO:0000142 PMID:29478781 ; - oboInOwl:hasDbXref UMLS:C4748269 ; oboInOwl:hasExactSynonym "MC5DN5", "mitochondrial complex 5 (atp synthase) deficiency, atp5f1d iia", "mitochondrial complex 5 (atp synthase) deficiency, nuclear iia 5" ; rdfs:subClassOf OMIMPS:604273 ; + skos:exactMatch UMLS:C4748269 ; biolink:category biolink:Disease . OMIM:618124 a owl:Class ; @@ -463790,9 +480479,9 @@ OMIM:618124 a owl:Class ; PMID:28633435, PMID:28969388, PMID:29982295 ; - oboInOwl:hasDbXref UMLS:C4748283 ; oboInOwl:hasExactSynonym "PNRIID", "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" ; + skos:exactMatch UMLS:C4748283 ; biolink:category biolink:Disease . OMIM:618131 a owl:Class ; @@ -463801,23 +480490,23 @@ OMIM:618131 a owl:Class ; PMID:27896283, PMID:28112205, PMID:29479355 ; - oboInOwl:hasDbXref UMLS:C4748304 ; oboInOwl:hasExactSynonym "IMD58", "immunodeficiency 58" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4748304 ; biolink:category biolink:Disease . OMIM:618135 a owl:Class ; rdfs:label "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8" ; IAO:0000142 PMID:17878207, PMID:27066570 ; - oboInOwl:hasDbXref UMLS:C4748320 ; oboInOwl:hasExactSynonym "MDDGC8", "muscular dystrophy, limb-girdle, autosomal recessive 24", "muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8", "muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related" ; rdfs:subClassOf OMIMPS:253600, OMIMPS:609308 ; + skos:exactMatch UMLS:C4748320 ; biolink:category biolink:Disease . OMIM:618138 a owl:Class ; @@ -463826,19 +480515,19 @@ OMIM:618138 a owl:Class ; PMID:24957499, PMID:25663498, PMID:30055037 ; - oboInOwl:hasDbXref UMLS:C4748327 ; oboInOwl:hasExactSynonym "LGMDR23", "muscular dystrophy, limb-girdle, autosomal recessive 23" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C4748327 ; biolink:category biolink:Disease . OMIM:618140 a owl:Class ; rdfs:label "deafness, autosomal dominant 74" ; IAO:0000142 PMID:29860631 ; - oboInOwl:hasDbXref UMLS:C4748334 ; oboInOwl:hasExactSynonym "DFNA74", "deafness, autosomal dominant 74" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C4748334 ; biolink:category biolink:Disease . OMIM:618141 a owl:Class ; @@ -463848,73 +480537,73 @@ OMIM:618141 a owl:Class ; PMID:28628100, PMID:29630738, PMID:29795476 ; - oboInOwl:hasDbXref UMLS:C4748341, - ORPHA:2382 ; oboInOwl:hasExactSynonym "DEE67", "developmental and epileptic encephalopathy 67", "epileptic encephalopathy, early infantile, 67" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4748341, + ORPHA:2382 ; biolink:category biolink:Disease . OMIM:618142 a owl:Class ; rdfs:label "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" ; IAO:0000142 PMID:26633546, PMID:27480277 ; - oboInOwl:hasDbXref UMLS:C4748348 ; oboInOwl:hasExactSynonym "MFRG", "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" ; + skos:exactMatch UMLS:C4748348 ; biolink:category biolink:Disease . OMIM:618143 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 95" ; IAO:0000142 PMID:30269814 ; - oboInOwl:hasDbXref UMLS:C4748357 ; oboInOwl:hasExactSynonym "DEE95", "developmental and epileptic encephalopathy 95", "glycosylphosphatidylinositol biosynthesis defect 18" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4748357 ; biolink:category biolink:Disease . OMIM:618144 a owl:Class ; rdfs:label "usher syndrome, iia 4" ; IAO:0000142 PMID:29300381 ; - oboInOwl:hasDbXref UMLS:C4748364 ; oboInOwl:hasExactSynonym "USH4", "usher syndrome, iia 4" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C4748364 ; biolink:category biolink:Disease . OMIM:618145 a owl:Class ; rdfs:label "deafness, autosomal recessive 111" ; IAO:0000142 PMID:29961571, PMID:29982980 ; - oboInOwl:hasDbXref UMLS:C4748374 ; oboInOwl:hasExactSynonym "DFNB111", "deafness, autosomal recessive 111" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4748374 ; biolink:category biolink:Disease . OMIM:618147 a owl:Class ; rdfs:label "intellectual developmental disorder with hypertelorism and distinctive facies" ; IAO:0000142 PMID:22012619, PMID:30122539 ; - oboInOwl:hasDbXref UMLS:C4748381, - UMLS:C4749153 ; oboInOwl:hasExactSynonym "IDDHDF", "chromosome 14q32 deletion syndrome", "intellectual developmental disorder with hypertelorism and distinctive facies" ; + skos:exactMatch UMLS:C4748381, + UMLS:C4749153 ; biolink:category biolink:Disease . OMIM:618148 a owl:Class ; rdfs:label "extraoral halitosis due to methanethiol oxidase deficiency" ; IAO:0000142 PMID:29255262 ; - oboInOwl:hasDbXref UMLS:C4748387, - ORPHA:562538 ; oboInOwl:hasExactSynonym "EHMTO", "extraoral halitosis due to methanethiol oxidase deficiency", "extraoral halitosis with dimethylsulfoxiduria", "methanethiol oxidase deficiency", "mto deficiency" ; + skos:exactMatch UMLS:C4748387, + ORPHA:562538 ; biolink:category biolink:Disease . OMIM:618150 a owl:Class ; @@ -463922,57 +480611,57 @@ OMIM:618150 a owl:Class ; IAO:0000142 PMID:2309787, PMID:30290151, PMID:8074143 ; - oboInOwl:hasDbXref UMLS:C1300285 ; oboInOwl:hasExactSynonym "SWILS", "microcephalic osteodysplastic dysplasia", "saul-wilson syndrome" ; + skos:exactMatch UMLS:C1300285 ; biolink:category biolink:Disease . OMIM:618152 a owl:Class ; rdfs:label "spermatogenic failure 33" ; IAO:0000142 PMID:30122540, PMID:30122541 ; - oboInOwl:hasDbXref UMLS:C4748395 ; oboInOwl:hasExactSynonym "SPGF33", "spermatogenic failure 33" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4748395 ; biolink:category biolink:Disease . OMIM:618153 a owl:Class ; rdfs:label "spermatogenic failure 34" ; IAO:0000142 PMID:30137358 ; - oboInOwl:hasDbXref UMLS:C4748403 ; oboInOwl:hasExactSynonym "SPGF34", "spermatogenic failure 34" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C4748403 ; biolink:category biolink:Disease . OMIM:618154 a owl:Class ; rdfs:label "hennekam lymphangiectasia-lymphedema syndrome 3" ; IAO:0000142 PMID:28985353, PMID:30450763 ; - oboInOwl:hasDbXref UMLS:C4748408 ; oboInOwl:hasExactSynonym "HKLLS3", "hennekam lymphangiectasia-lymphedema syndrome 3" ; rdfs:subClassOf OMIMPS:235510 ; + skos:exactMatch UMLS:C4748408 ; biolink:category biolink:Disease . OMIM:618155 a owl:Class ; rdfs:label "ophthalmoplegia, external, with rib and vertebral anomalies" ; IAO:0000142 PMID:10844060, PMID:29887215 ; - oboInOwl:hasDbXref UMLS:C4748418 ; oboInOwl:hasExactSynonym "EORVA", "ophthalmoplegia, external, with rib and vertebral anomalies" ; + skos:exactMatch UMLS:C4748418 ; biolink:category biolink:Disease . OMIM:618156 a owl:Class ; rdfs:label "squalene synthase deficiency" ; IAO:0000142 PMID:29909962 ; - oboInOwl:hasDbXref UMLS:C4748427 ; oboInOwl:hasExactSynonym "SQSD", "neurodevelopmental disorder with low cholesterol and abnormal urine organic acids", "squalene synthase deficiency" ; + skos:exactMatch UMLS:C4748427 ; biolink:category biolink:Disease . OMIM:618157 a owl:Class ; @@ -463989,98 +480678,98 @@ OMIM:618157 a owl:Class ; PMID:8391647, PMID:8395283, PMID:8528260 ; - oboInOwl:hasDbXref UMLS:C4722273, - ORPHA:231671 ; oboInOwl:hasExactSynonym "IGHD4", "dwarfism of sindh", "isolated growth hormone deficiency, iia 4", "isolated growth hormone deficiency, iia ib, formerly" ; rdfs:subClassOf OMIMPS:262400 ; + skos:exactMatch UMLS:C4722273, + ORPHA:231671 ; biolink:category biolink:Disease . OMIM:618158 a owl:Class ; rdfs:label "intellectual developmental disorder with macrocephaly, seizures, and speech delay" ; IAO:0000142 PMID:21115725, PMID:30290153 ; - oboInOwl:hasDbXref UMLS:C4748428 ; oboInOwl:hasExactSynonym "IDDMSSD", "intellectual developmental disorder with macrocephaly, seizures, and speech delay" ; + skos:exactMatch UMLS:C4748428 ; biolink:category biolink:Disease . OMIM:618160 a owl:Class ; rdfs:label "pituitary hormone deficiency, combined or isolated, 7" ; IAO:0000142 PMID:24480542, PMID:29866761 ; - oboInOwl:hasDbXref UMLS:C4748435 ; oboInOwl:hasExactSynonym "CPHD7", "isolated growth hormone deficiency, iia v, formerly", "pituitary hormone deficiency, combined or isolated, 7" ; rdfs:subClassOf OMIMPS:613038 ; + skos:exactMatch UMLS:C4748435 ; biolink:category biolink:Disease . OMIM:618162 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, krakow iia" ; IAO:0000142 PMID:30232230 ; - oboInOwl:hasDbXref UMLS:C4748455 ; oboInOwl:hasExactSynonym "SEMDK", "immunoosseous dysplasia, krakow iia", "spondyloepimetaphyseal dysplasia, krakow iia" ; + skos:exactMatch UMLS:C4748455 ; biolink:category biolink:Disease . OMIM:618164 a owl:Class ; rdfs:label "cardiac, facial, and digital anomalies with developmental delay" ; IAO:0000142 PMID:25961944, PMID:29961569 ; - oboInOwl:hasDbXref UMLS:C4748484 ; oboInOwl:hasExactSynonym "CAFDADD", "cardiac, facial, and digital anomalies with developmental delay" ; + skos:exactMatch UMLS:C4748484 ; biolink:category biolink:Disease . OMIM:618167 a owl:Class ; rdfs:label "osteochondrodysplasia, brachydactyly, and overlapping malformed digits" ; IAO:0000142 PMID:26436107, PMID:29514872 ; - oboInOwl:hasDbXref UMLS:C4748496 ; oboInOwl:hasExactSynonym "OCBMD", "osteochondrodysplasia, brachydactyly, and overlapping malformed digits" ; + skos:exactMatch UMLS:C4748496 ; biolink:category biolink:Disease . OMIM:618168 a owl:Class ; rdfs:label "diarrhea 9" ; IAO:0000142 PMID:29909964 ; - oboInOwl:hasDbXref UMLS:C4748517 ; oboInOwl:hasExactSynonym "DIAR9", "diarrhea 9" ; rdfs:subClassOf OMIMPS:214700 ; + skos:exactMatch UMLS:C4748517 ; biolink:category biolink:Disease . OMIM:618170 a owl:Class ; rdfs:label "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures" ; IAO:0000142 PMID:30100084, PMID:30401461 ; - oboInOwl:hasDbXref UMLS:C4748527 ; oboInOwl:hasExactSynonym "CONDSIAS", "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures" ; + skos:exactMatch UMLS:C4748527 ; biolink:category biolink:Disease . OMIM:618173 a owl:Class ; rdfs:label "retinitis pigmentosa 83" ; IAO:0000142 PMID:26964041, PMID:30932721 ; - oboInOwl:hasDbXref UMLS:C4748536, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP83", "retinitis pigmentosa 83" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4748536, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:618174 a owl:Class ; rdfs:label "cortical dysplasia, complex, with other brain malformations 9" ; IAO:0000142 PMID:30013181 ; - oboInOwl:hasDbXref UMLS:C4748540 ; oboInOwl:hasExactSynonym "CDCBM9", "cortical dysplasia, complex, with other brain malformations 9" ; rdfs:subClassOf OMIMPS:614039 ; + skos:exactMatch UMLS:C4748540 ; biolink:category biolink:Disease . OMIM:618175 a owl:Class ; @@ -464088,66 +480777,66 @@ OMIM:618175 a owl:Class ; IAO:0000142 PMID:17103436, PMID:23637089, PMID:30449416 ; - oboInOwl:hasDbXref UMLS:C5193019 ; oboInOwl:hasExactSynonym "WRCN", "warburg-cinotti syndrome" ; + skos:exactMatch UMLS:C5193019 ; biolink:category biolink:Disease . OMIM:618176 a owl:Class ; rdfs:label "nephrotic syndrome, iia 17" ; IAO:0000142 PMID:30179222 ; - oboInOwl:hasDbXref UMLS:C4748545, - ORPHA:656 ; oboInOwl:hasExactSynonym "NPHS17", "nephrotic syndrome, iia 17" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C4748545, + ORPHA:656 ; biolink:category biolink:Disease . OMIM:618177 a owl:Class ; rdfs:label "nephrotic syndrome, iia 18" ; IAO:0000142 PMID:30179222 ; - oboInOwl:hasDbXref UMLS:C4748549, - ORPHA:656 ; oboInOwl:hasExactSynonym "NPHS18", "nephrotic syndrome, iia 18" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C4748549, + ORPHA:656 ; biolink:category biolink:Disease . OMIM:618178 a owl:Class ; rdfs:label "nephrotic syndrome, iia 19" ; IAO:0000142 PMID:30179222 ; - oboInOwl:hasDbXref UMLS:C4748552, - ORPHA:656 ; oboInOwl:hasExactSynonym "NPHS19", "nephrotic syndrome, iia 19" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C4748552, + ORPHA:656 ; biolink:category biolink:Disease . OMIM:618179 a owl:Class ; rdfs:label "microcephaly 24, primary, autosomal recessive" ; IAO:0000142 PMID:30179222 ; - oboInOwl:hasDbXref UMLS:C4748555 ; oboInOwl:hasExactSynonym "MCPH24", "microcephaly 24, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C4748555 ; biolink:category biolink:Disease . OMIM:618180 a owl:Class ; rdfs:label "ectodermal dysplasia 14, hair/tooth iia with or without hypohidrosis" ; IAO:0000142 PMID:27736875 ; - oboInOwl:hasDbXref UMLS:C4748560 ; oboInOwl:hasExactSynonym "ECTD14", "ectodermal dysplasia 14, hair/tooth iia with or without hypohidrosis" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C4748560 ; biolink:category biolink:Disease . OMIM:618182 a owl:Class ; rdfs:label "orthostatic hypotension 2" ; IAO:0000142 PMID:29343526 ; - oboInOwl:hasDbXref UMLS:C4748569 ; oboInOwl:hasExactSynonym "ORTHYP2", "orthostatic hypotension 2" ; rdfs:subClassOf OMIMPS:223360 ; + skos:exactMatch UMLS:C4748569 ; biolink:category biolink:Disease . OMIM:618183 a owl:Class ; @@ -464155,46 +480844,46 @@ OMIM:618183 a owl:Class ; IAO:0000142 PMID:26207260, PMID:29661969, PMID:29875123 ; - oboInOwl:hasDbXref UMLS:C4748579 ; oboInOwl:hasExactSynonym "DIAR10", "diarrhea 10, protein-losing enteropathy iia" ; rdfs:subClassOf OMIMPS:214700 ; + skos:exactMatch UMLS:C4748579 ; biolink:category biolink:Disease . OMIM:618185 a owl:Class ; rdfs:label "periventricular nodular heterotopia 8" ; IAO:0000142 PMID:28868155 ; - oboInOwl:hasDbXref UMLS:C4748602 ; oboInOwl:hasExactSynonym "PVNH8", "periventricular nodular heterotopia 8" ; rdfs:subClassOf OMIMPS:300049 ; + skos:exactMatch UMLS:C4748602 ; biolink:category biolink:Disease . OMIM:618187 a owl:Class ; rdfs:label "ovarian dysgenesis 8" ; IAO:0000142 PMID:30113650 ; - oboInOwl:hasDbXref UMLS:C4748626 ; oboInOwl:hasExactSynonym "ODG8", "ovarian dysgenesis 8" ; rdfs:subClassOf OMIMPS:233300 ; + skos:exactMatch UMLS:C4748626 ; biolink:category biolink:Disease . OMIM:618188 a owl:Class ; rdfs:label "hyperparathyroidism, transient neonatal" ; IAO:0000142 PMID:29861107 ; - oboInOwl:hasDbXref UMLS:C1300287 ; oboInOwl:hasExactSynonym "HRPTTN", "hyperparathyroidism, transient neonatal" ; rdfs:subClassOf OMIMPS:145000 ; + skos:exactMatch UMLS:C1300287 ; biolink:category biolink:Disease . OMIM:618189 a owl:Class ; rdfs:label "cardiomyopathy, dilated, 2c" ; IAO:0000142 PMID:29754768 ; - oboInOwl:hasDbXref UMLS:C4748647 ; oboInOwl:hasExactSynonym "CMD2C", "cardiomyopathy, dilated, 2c" ; rdfs:subClassOf OMIMPS:115200 ; + skos:exactMatch UMLS:C4748647 ; biolink:category biolink:Disease . OMIM:618193 a owl:Class ; @@ -464203,19 +480892,19 @@ OMIM:618193 a owl:Class ; PMID:12080485, PMID:15883308, PMID:6681564 ; - oboInOwl:hasDbXref UMLS:C4748657, - ORPHA:2770 ; oboInOwl:hasExactSynonym "PLOSL2", "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2" ; rdfs:subClassOf OMIMPS:221770 ; + skos:exactMatch UMLS:C4748657, + ORPHA:2770 ; biolink:category biolink:Disease . OMIM:618195 a owl:Class ; rdfs:label "intellectual developmental disorder and retinitis pigmentosa" ; IAO:0000142 PMID:28794130 ; - oboInOwl:hasDbXref UMLS:C4748658 ; oboInOwl:hasExactSynonym "IDDRP", "intellectual developmental disorder and retinitis pigmentosa" ; + skos:exactMatch UMLS:C4748658 ; biolink:category biolink:Disease . OMIM:618197 a owl:Class ; @@ -464224,21 +480913,21 @@ OMIM:618197 a owl:Class ; PMID:26870663, PMID:31527857, PMID:31808147 ; - oboInOwl:hasDbXref UMLS:C4748678, - ORPHA:98914 ; oboInOwl:hasExactSynonym "CMS23", "myasthenic syndrome, congenital, 23, presynaptic" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4748678, + ORPHA:98914 ; biolink:category biolink:Disease . OMIM:618198 a owl:Class ; rdfs:label "myasthenic syndrome, congenital, 24, presynaptic" ; IAO:0000142 PMID:26752647, PMID:27259756 ; - oboInOwl:hasDbXref UMLS:C4748684 ; oboInOwl:hasExactSynonym "CMS24", "myasthenic syndrome, congenital, 24, presynaptic" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C4748684 ; biolink:category biolink:Disease . OMIM:618201 a owl:Class ; @@ -464247,12 +480936,12 @@ OMIM:618201 a owl:Class ; PMID:28364549, PMID:28940097, PMID:29846532 ; - oboInOwl:hasDbXref UMLS:C4748688, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE68", "developmental and epileptic encephalopathy 68", "epileptic encephalopathy, early infantile, 68" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4748688, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:618205 a owl:Class ; @@ -464260,10 +480949,10 @@ OMIM:618205 a owl:Class ; IAO:0000142 PMID:26867680, PMID:29463886, PMID:30397230 ; - oboInOwl:hasDbXref UMLS:C4748701 ; oboInOwl:hasExactSynonym "SNIBCPS", "intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies", "snijders blok-campeau syndrome" ; + skos:exactMatch UMLS:C4748701 ; biolink:category biolink:Disease . OMIM:618218 a owl:Class ; @@ -464271,30 +480960,30 @@ OMIM:618218 a owl:Class ; IAO:0000142 PMID:25705886, PMID:25712080, PMID:30107533 ; - oboInOwl:hasDbXref UMLS:C4748715 ; oboInOwl:hasExactSynonym "BAGOS", "baker-gordon syndrome", "neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram" ; + skos:exactMatch UMLS:C4748715 ; biolink:category biolink:Disease . OMIM:618219 a owl:Class ; rdfs:label "polydactyly, postaxial, iia a9" ; IAO:0000142 PMID:30395363 ; - oboInOwl:hasDbXref UMLS:C4748721 ; oboInOwl:hasExactSynonym "PAPA9", "polydactyly, postaxial, iia a9" ; rdfs:subClassOf OMIMPS:174200 ; + skos:exactMatch UMLS:C4748721 ; biolink:category biolink:Disease . OMIM:618220 a owl:Class ; rdfs:label "retinitis pigmentosa 84" ; IAO:0000142 PMID:24737827, PMID:30208423 ; - oboInOwl:hasDbXref UMLS:C4748725, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP84", "retinitis pigmentosa 84" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C4748725, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:618221 a owl:Class ; @@ -464302,11 +480991,11 @@ OMIM:618221 a owl:Class ; IAO:0000142 PMID:25558065, PMID:27311568, PMID:28097321 ; - oboInOwl:hasDbXref UMLS:C4748732 ; oboInOwl:hasExactSynonym "MRT66", "intellectual developmental disorder, autosomal recessive 66", "mental retardation, autosomal recessive 66" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4748732 ; biolink:category biolink:Disease . OMIM:618222 a owl:Class ; @@ -464314,18 +481003,18 @@ OMIM:618222 a owl:Class ; IAO:0000142 PMID:15159508, PMID:22499348, PMID:9837812 ; - oboInOwl:hasDbXref UMLS:C4748737 ; oboInOwl:hasExactSynonym "MC1DN2", "mitochondrial complex 1 deficiency, nuclear iia 2" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748737 ; biolink:category biolink:Disease . OMIM:618223 a owl:Class ; rdfs:label "vertebral anomalies and variable endocrine and t-cell dysfunction" ; IAO:0000142 PMID:29726930 ; - oboInOwl:hasDbXref UMLS:C4748741 ; oboInOwl:hasExactSynonym "VETD", "vertebral anomalies and variable endocrine and t-cell dysfunction" ; + skos:exactMatch UMLS:C4748741 ; biolink:category biolink:Disease . OMIM:618224 a owl:Class ; @@ -464333,20 +481022,20 @@ OMIM:618224 a owl:Class ; IAO:0000142 PMID:10330338, PMID:17275378, PMID:17604671 ; - oboInOwl:hasDbXref UMLS:C4748752 ; oboInOwl:hasExactSynonym "MC1DN3", "mitochondrial complex 1 deficiency, nuclear iia 3" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748752 ; biolink:category biolink:Disease . OMIM:618225 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 4" ; IAO:0000142 PMID:10080174, PMID:11349233 ; - oboInOwl:hasDbXref UMLS:C4748753 ; oboInOwl:hasExactSynonym "MC1DN4", "mitochondrial complex 1 deficiency, nuclear iia 4" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748753 ; biolink:category biolink:Disease . OMIM:618226 a owl:Class ; @@ -464355,20 +481044,20 @@ OMIM:618226 a owl:Class ; PMID:15824269, PMID:20382551, PMID:21203893 ; - oboInOwl:hasDbXref UMLS:C4748754 ; oboInOwl:hasExactSynonym "MC1DN5", "mitochondrial complex 1 deficiency, nuclear iia 5" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748754 ; biolink:category biolink:Disease . OMIM:618228 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 6" ; IAO:0000142 PMID:11220739, PMID:11743516 ; - oboInOwl:hasDbXref UMLS:C4748759 ; oboInOwl:hasExactSynonym "MC1DN6", "mitochondrial complex 1 deficiency, nuclear iia 6" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748759 ; biolink:category biolink:Disease . OMIM:618229 a owl:Class ; @@ -464377,20 +481066,20 @@ OMIM:618229 a owl:Class ; PMID:12754703, PMID:19167255, PMID:26008862 ; - oboInOwl:hasDbXref UMLS:C4748760 ; oboInOwl:hasExactSynonym "MC1DN7", "mitochondrial complex 1 deficiency, nuclear iia 7" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748760 ; biolink:category biolink:Disease . OMIM:618230 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 8" ; IAO:0000142 PMID:14729820, PMID:22499348 ; - oboInOwl:hasDbXref UMLS:C4748766 ; oboInOwl:hasExactSynonym "MC1DN8", "mitochondrial complex 1 deficiency, nuclear iia 8" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748766 ; biolink:category biolink:Disease . OMIM:618231 a owl:Class ; @@ -464399,21 +481088,21 @@ OMIM:618231 a owl:Class ; PMID:10844558, PMID:12426567, PMID:28646613 ; - oboInOwl:hasDbXref UMLS:C4722258, - ORPHA:302 ; oboInOwl:hasExactSynonym "EV2", "epidermodysplasia verruciformis, susceptibility to, 2" ; rdfs:subClassOf OMIMPS:226400 ; + skos:exactMatch UMLS:C4722258, + ORPHA:302 ; biolink:category biolink:Disease . OMIM:618232 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 9" ; IAO:0000142 PMID:15372108, PMID:19259137 ; - oboInOwl:hasDbXref UMLS:C4748767 ; oboInOwl:hasExactSynonym "MC1DN9", "mitochondrial complex 1 deficiency, nuclear iia 9" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748767 ; biolink:category biolink:Disease . OMIM:618233 a owl:Class ; @@ -464423,20 +481112,20 @@ OMIM:618233 a owl:Class ; PMID:19384974, PMID:20571988, PMID:20818383 ; - oboInOwl:hasDbXref UMLS:C4748768 ; oboInOwl:hasExactSynonym "MC1DN10", "mitochondrial complex 1 deficiency, nuclear iia 10" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748768 ; biolink:category biolink:Disease . OMIM:618234 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 11" ; IAO:0000142 PMID:17557076, PMID:21931170 ; - oboInOwl:hasDbXref UMLS:C4748769 ; oboInOwl:hasExactSynonym "MC1DN11", "mitochondrial complex 1 deficiency, nuclear iia 11" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748769 ; biolink:category biolink:Disease . OMIM:618235 a owl:Class ; @@ -464445,30 +481134,30 @@ OMIM:618235 a owl:Class ; PMID:27159321, PMID:28857146, PMID:32154054 ; - oboInOwl:hasDbXref UMLS:C4748770, - ORPHA:255241 ; oboInOwl:hasExactSynonym "MC1DN13", "mitochondrial complex 1 deficiency, nuclear iia 13" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748770, + ORPHA:255241 ; biolink:category biolink:Disease . OMIM:618236 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 14" ; IAO:0000142 PMID:18306244 ; - oboInOwl:hasDbXref UMLS:C4748777 ; oboInOwl:hasExactSynonym "MC1DN14", "mitochondrial complex 1 deficiency, nuclear iia 14" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748777 ; biolink:category biolink:Disease . OMIM:618237 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 15" ; IAO:0000142 PMID:18179882, PMID:28853723 ; - oboInOwl:hasDbXref UMLS:C4748778 ; oboInOwl:hasExactSynonym "MC1DN15", "mitochondrial complex 1 deficiency, nuclear iia 15" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748778 ; biolink:category biolink:Disease . OMIM:618238 a owl:Class ; @@ -464476,10 +481165,10 @@ OMIM:618238 a owl:Class ; IAO:0000142 PMID:18940309, PMID:19542079, PMID:21607760 ; - oboInOwl:hasDbXref UMLS:C4748785 ; oboInOwl:hasExactSynonym "MC1DN16", "mitochondrial complex 1 deficiency, nuclear iia 16" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748785 ; biolink:category biolink:Disease . OMIM:618239 a owl:Class ; @@ -464490,30 +481179,30 @@ OMIM:618239 a owl:Class ; PMID:29531337, PMID:30642748, PMID:33097395 ; - oboInOwl:hasDbXref UMLS:C4748786, - ORPHA:255241 ; oboInOwl:hasExactSynonym "MC1DN17", "mitochondrial complex 1 deficiency, nuclear iia 17" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748786, + ORPHA:255241 ; biolink:category biolink:Disease . OMIM:618240 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 18" ; IAO:0000142 PMID:19463981 ; - oboInOwl:hasDbXref UMLS:C4748790 ; oboInOwl:hasExactSynonym "MC1DN18", "mitochondrial complex 1 deficiency, nuclear iia 18" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748790 ; biolink:category biolink:Disease . OMIM:618241 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 19" ; IAO:0000142 PMID:20818383, PMID:20858599 ; - oboInOwl:hasDbXref UMLS:C4748791 ; oboInOwl:hasExactSynonym "MC1DN19", "mitochondrial complex 1 deficiency, nuclear iia 19" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748791 ; biolink:category biolink:Disease . OMIM:618242 a owl:Class ; @@ -464522,155 +481211,155 @@ OMIM:618242 a owl:Class ; PMID:23553477, PMID:31917109, PMID:32518176 ; - oboInOwl:hasDbXref UMLS:C4748792, - ORPHA:2609 ; oboInOwl:hasExactSynonym "MC1DN21", "mitochondrial complex 1 deficiency, nuclear iia 21" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748792, + ORPHA:2609 ; biolink:category biolink:Disease . OMIM:618243 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 22" ; IAO:0000142 PMID:21150889, PMID:26741492 ; - oboInOwl:hasDbXref UMLS:C4748796 ; oboInOwl:hasExactSynonym "MC1DN22", "mitochondrial complex 1 deficiency, nuclear iia 22" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748796 ; biolink:category biolink:Disease . OMIM:618244 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 23" ; IAO:0000142 PMID:21617257 ; - oboInOwl:hasDbXref UMLS:C4748799, - ORPHA:255241 ; oboInOwl:hasExactSynonym "MC1DN23", "mitochondrial complex 1 deficiency, nuclear iia 23" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748799, + ORPHA:255241 ; biolink:category biolink:Disease . OMIM:618245 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 24" ; IAO:0000142 PMID:22200994 ; - oboInOwl:hasDbXref UMLS:C4748803 ; oboInOwl:hasExactSynonym "MC1DN24", "mitochondrial complex 1 deficiency, nuclear iia 24" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748803 ; biolink:category biolink:Disease . OMIM:618246 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 25" ; IAO:0000142 PMID:22277967, PMID:22499348 ; - oboInOwl:hasDbXref UMLS:C4748806 ; oboInOwl:hasExactSynonym "MC1DN25", "mitochondrial complex 1 deficiency, nuclear iia 25" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748806 ; biolink:category biolink:Disease . OMIM:618247 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 26" ; IAO:0000142 PMID:22114105, PMID:28671271 ; - oboInOwl:hasDbXref UMLS:C4748809 ; oboInOwl:hasExactSynonym "MC1DN26", "mitochondrial complex 1 deficiency, nuclear iia 26" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748809 ; biolink:category biolink:Disease . OMIM:618248 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 27" ; IAO:0000142 PMID:22499348 ; - oboInOwl:hasDbXref UMLS:C4748826 ; oboInOwl:hasExactSynonym "MC1DN27", "mitochondrial complex 1 deficiency, nuclear iia 27" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748826 ; biolink:category biolink:Disease . OMIM:618250 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 29" ; IAO:0000142 PMID:27374773, PMID:27374774 ; - oboInOwl:hasDbXref UMLS:C4748830 ; oboInOwl:hasExactSynonym "MC1DN29", "mitochondrial complex 1 deficiency, nuclear iia 29" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748830 ; biolink:category biolink:Disease . OMIM:618251 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 31" ; IAO:0000142 PMID:28604674 ; - oboInOwl:hasDbXref UMLS:C4748838 ; oboInOwl:hasExactSynonym "MC1DN31", "mitochondrial complex 1 deficiency, nuclear iia 31" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748838 ; biolink:category biolink:Disease . OMIM:618252 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 32" ; IAO:0000142 PMID:29429571 ; - oboInOwl:hasDbXref UMLS:C4748839 ; oboInOwl:hasExactSynonym "MC1DN32", "mitochondrial complex 1 deficiency, nuclear iia 32" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748839 ; biolink:category biolink:Disease . OMIM:618253 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 33" ; IAO:0000142 PMID:30245030 ; - oboInOwl:hasDbXref UMLS:C4748840 ; oboInOwl:hasExactSynonym "MC1DN33", "mitochondrial complex 1 deficiency, nuclear iia 33" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C4748840 ; biolink:category biolink:Disease . OMIM:618254 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 39" ; IAO:0000142 PMID:30388400 ; - oboInOwl:hasDbXref UMLS:C4748841 ; oboInOwl:hasExactSynonym "CILD39", "ciliary dyskinesia, primary, 39", "ciliary dyskinesia, primary, 39, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4748841 ; biolink:category biolink:Disease . OMIM:618257 a owl:Class ; rdfs:label "deafness, autosomal recessive 112" ; - oboInOwl:hasDbXref UMLS:C4748855 ; oboInOwl:hasExactSynonym "DFNB112", "deafness, autosomal recessive 112" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4748855 ; biolink:category biolink:Disease . OMIM:618261 a owl:Class ; rdfs:label "lymphoproliferative syndrome 3" ; IAO:0000142 PMID:28011863, PMID:28011864 ; - oboInOwl:hasDbXref UMLS:C4748863, - ORPHA:538958 ; oboInOwl:hasExactSynonym "LPFS3", "cd70 deficiency", "lymphoproliferative syndrome 3" ; rdfs:subClassOf OMIMPS:308240 ; + skos:exactMatch UMLS:C4748863, + ORPHA:538958 ; biolink:category biolink:Disease . OMIM:618264 a owl:Class ; rdfs:label "mirror movements 4" ; IAO:0000142 PMID:28945198, PMID:8978605 ; - oboInOwl:hasDbXref UMLS:C4748869 ; oboInOwl:hasExactSynonym "MRMV4", "mirror movements 4" ; rdfs:subClassOf OMIMPS:157600 ; + skos:exactMatch UMLS:C4748869 ; biolink:category biolink:Disease . OMIM:618266 a owl:Class ; rdfs:label "pontocerebellar hypoplasia, iia 12" ; IAO:0000142 PMID:30089828 ; - oboInOwl:hasDbXref UMLS:C4748873 ; oboInOwl:hasExactSynonym "PCH12", "pontocerebellar hypoplasia, iia 12" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C4748873 ; biolink:category biolink:Disease . OMIM:618267 a owl:Class ; @@ -464679,35 +481368,35 @@ OMIM:618267 a owl:Class ; PMID:228581, PMID:28646613, PMID:30068544 ; - oboInOwl:hasDbXref UMLS:C4748876 ; oboInOwl:hasExactSynonym "EV3", "epidermodysplasia verruciformis, susceptibility to, 3" ; rdfs:subClassOf OMIMPS:226400 ; + skos:exactMatch UMLS:C4748876 ; biolink:category biolink:Disease . OMIM:618268 a owl:Class ; rdfs:label "trichohepatoneurodevelopmental syndrome" ; IAO:0000142 PMID:30401460 ; - oboInOwl:hasDbXref UMLS:C4748898 ; oboInOwl:hasExactSynonym "THNS", "trichohepatoneurodevelopmental syndrome" ; + skos:exactMatch UMLS:C4748898 ; biolink:category biolink:Disease . OMIM:618270 a owl:Class ; rdfs:label "congenital anomalies of kidney and urinary tract 3" ; IAO:0000142 PMID:28381549 ; - oboInOwl:hasDbXref UMLS:C4748921 ; oboInOwl:hasExactSynonym "CAKUT3", "congenital anomalies of kidney and urinary tract 3" ; rdfs:subClassOf OMIMPS:610805 ; + skos:exactMatch UMLS:C4748921 ; biolink:category biolink:Disease . OMIM:618273 a owl:Class ; rdfs:label "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" ; IAO:0000142 PMID:30449657 ; - oboInOwl:hasDbXref UMLS:C4748927 ; oboInOwl:hasExactSynonym "MCCCHCM", "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" ; + skos:exactMatch UMLS:C4748927 ; biolink:category biolink:Disease . OMIM:618275 a owl:Class ; @@ -464715,11 +481404,11 @@ OMIM:618275 a owl:Class ; IAO:0000142 PMID:26200341, PMID:29016354, PMID:30401459 ; - oboInOwl:hasDbXref UMLS:C4748930, - ORPHA:55654 ; oboInOwl:hasExactSynonym "HYPT14", "hypotrichosis 14" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C4748930, + ORPHA:55654 ; biolink:category biolink:Disease . OMIM:618276 a owl:Class ; @@ -464727,17 +481416,17 @@ OMIM:618276 a owl:Class ; IAO:0000142 PMID:11884758, PMID:21074048, PMID:30420557 ; - oboInOwl:hasDbXref UMLS:C4748934 ; oboInOwl:hasExactSynonym "CONDCA", "neurodegeneration, childhood-onset, with cerebellar atrophy" ; + skos:exactMatch UMLS:C4748934 ; biolink:category biolink:Disease . OMIM:618278 a owl:Class ; rdfs:label "fibrosis, neurodegeneration, and cerebral angiomatosis" ; IAO:0000142 PMID:29423877 ; - oboInOwl:hasDbXref UMLS:C4748939 ; oboInOwl:hasExactSynonym "FINCA", "fibrosis, neurodegeneration, and cerebral angiomatosis" ; + skos:exactMatch UMLS:C4748939 ; biolink:category biolink:Disease . OMIM:618279 a owl:Class ; @@ -464746,64 +481435,64 @@ OMIM:618279 a owl:Class ; PMID:26828946, PMID:27009151, PMID:30249361 ; - oboInOwl:hasDbXref UMLS:C4748940 ; oboInOwl:hasExactSynonym "CMT1G", "charcot-marie-tooth disease, demyelinating, iia 1g" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C4748940 ; biolink:category biolink:Disease . OMIM:618282 a owl:Class ; rdfs:label "hyper-ige recurrent infection syndrome 3, autosomal recessive" ; IAO:0000142 PMID:29907690, PMID:29907691 ; - oboInOwl:hasDbXref UMLS:C4748969 ; oboInOwl:hasExactSynonym "HIES3", "hyper-ige recurrent infection syndrome 3, autosomal recessive" ; rdfs:subClassOf OMIMPS:147060 ; + skos:exactMatch UMLS:C4748969 ; biolink:category biolink:Disease . OMIM:618283 a owl:Class ; rdfs:label "visual impairment and progressive phthisis bulbi" ; IAO:0000142 PMID:29771303 ; - oboInOwl:hasDbXref UMLS:C4748978 ; oboInOwl:hasExactSynonym "VIPB", "visual impairment and progressive phthisis bulbi" ; + skos:exactMatch UMLS:C4748978 ; biolink:category biolink:Disease . OMIM:618284 a owl:Class ; rdfs:label "microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" ; IAO:0000142 PMID:23181898, PMID:27582084 ; - oboInOwl:hasDbXref UMLS:C4748984 ; oboInOwl:hasExactSynonym "MCIDDS", "microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" ; + skos:exactMatch UMLS:C4748984 ; biolink:category biolink:Disease . OMIM:618285 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 69" ; IAO:0000142 PMID:30343943 ; - oboInOwl:hasDbXref UMLS:C4748988 ; oboInOwl:hasExactSynonym "DEE69", "developmental and epileptic encephalopathy 69", "epileptic encephalopathy, early infantile, 69" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4748988 ; biolink:category biolink:Disease . OMIM:618286 a owl:Class ; rdfs:label "macrocephaly, acquired, with impaired intellectual development" ; IAO:0000142 PMID:30388402 ; - oboInOwl:hasDbXref UMLS:C4748993 ; oboInOwl:hasExactSynonym "MACID", "macrocephaly, acquired, with impaired intellectual development", "macrocephaly, acquired, with mental retardation" ; + skos:exactMatch UMLS:C4748993 ; biolink:category biolink:Disease . OMIM:618287 a owl:Class ; rdfs:label "mucocutaneous ulceration, chronic" ; IAO:0000142 PMID:28600438 ; - oboInOwl:hasDbXref UMLS:C4748997 ; oboInOwl:hasExactSynonym "CMCU", "mucocutaneous ulceration, chronic" ; + skos:exactMatch UMLS:C4748997 ; biolink:category biolink:Disease . OMIM:618291 a owl:Class ; @@ -464811,10 +481500,10 @@ OMIM:618291 a owl:Class ; IAO:0000142 PMID:27751653, PMID:28635954, PMID:30054298 ; - oboInOwl:hasDbXref UMLS:C4749003 ; oboInOwl:hasExactSynonym "SMALED2B", "spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant" ; rdfs:subClassOf OMIMPS:158600 ; + skos:exactMatch UMLS:C4749003 ; biolink:category biolink:Disease . OMIM:618292 a owl:Class ; @@ -464823,44 +481512,44 @@ OMIM:618292 a owl:Class ; PMID:28195318, PMID:29130632, PMID:30976111 ; - oboInOwl:hasDbXref UMLS:C4749014, - ORPHA:528084 ; oboInOwl:hasExactSynonym "NEDIDHA", "neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia" ; + skos:exactMatch UMLS:C4749014, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:618295 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 67" ; IAO:0000142 PMID:20126553, PMID:30409806 ; - oboInOwl:hasDbXref UMLS:C4749019 ; oboInOwl:hasExactSynonym "MRT67", "intellectual developmental disorder, autosomal recessive 67", "mental retardation, autosomal recessive 67" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4749019 ; biolink:category biolink:Disease . OMIM:618298 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 70" ; IAO:0000142 PMID:23033978, PMID:30256902 ; - oboInOwl:hasDbXref UMLS:C4749023, - ORPHA:3451 ; oboInOwl:hasExactSynonym "DEE70", "developmental and epileptic encephalopathy 70", "epileptic encephalopathy, early infantile, 70" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C4749023, + ORPHA:3451 ; biolink:category biolink:Disease . OMIM:618300 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 40" ; IAO:0000142 PMID:30471717, PMID:30471718 ; - oboInOwl:hasDbXref UMLS:C4749028 ; oboInOwl:hasExactSynonym "CILD40", "ciliary dyskinesia, primary, 40", "ciliary dyskinesia, primary, 40, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4749028 ; biolink:category biolink:Disease . OMIM:618302 a owl:Class ; @@ -464868,76 +481557,76 @@ OMIM:618302 a owl:Class ; IAO:0000142 PMID:21937992, PMID:26308914, PMID:30289604 ; - oboInOwl:hasDbXref UMLS:C4749033 ; oboInOwl:hasExactSynonym "MRT68", "intellectual developmental disorder, autosomal recessive 68", "mental retardation, autosomal recessive 68" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C4749033 ; biolink:category biolink:Disease . OMIM:618307 a owl:Class ; rdfs:label "epidermodysplasia verruciformis, susceptibility to, 4" ; IAO:0000142 PMID:22850876 ; - oboInOwl:hasDbXref UMLS:C4749042 ; oboInOwl:hasExactSynonym "EV4", "epidermodysplasia verruciformis, susceptibility to, 4" ; rdfs:subClassOf OMIMPS:226400 ; + skos:exactMatch UMLS:C4749042 ; biolink:category biolink:Disease . OMIM:618309 a owl:Class ; rdfs:label "epidermodysplasia verruciformis, susceptibility to, 5" ; IAO:0000142 PMID:25981006 ; - oboInOwl:hasDbXref UMLS:C4749043 ; oboInOwl:hasExactSynonym "EV5", "epidermodysplasia verruciformis, susceptibility to, 5" ; rdfs:subClassOf OMIMPS:226400 ; + skos:exactMatch UMLS:C4749043 ; biolink:category biolink:Disease . OMIM:618310 a owl:Class ; rdfs:label "diamond-blackfan anemia 18" ; IAO:0000142 PMID:28280134 ; - oboInOwl:hasDbXref UMLS:C5193020, - ORPHA:124 ; oboInOwl:hasExactSynonym "DBA18", "diamond-blackfan anemia 18" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C5193020, + ORPHA:124 ; biolink:category biolink:Disease . OMIM:618312 a owl:Class ; rdfs:label "diamond-blackfan anemia 19" ; IAO:0000142 PMID:28280134 ; - oboInOwl:hasDbXref UMLS:C5193021, - ORPHA:124 ; oboInOwl:hasExactSynonym "DBA19", "diamond-blackfan anemia 19" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C5193021, + ORPHA:124 ; biolink:category biolink:Disease . OMIM:618313 a owl:Class ; rdfs:label "diamond-blackfan anemia 20" ; IAO:0000142 PMID:27909223 ; - oboInOwl:hasDbXref UMLS:C5193022, - ORPHA:124 ; oboInOwl:hasExactSynonym "DBA20", "diamond-blackfan anemia 20" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C5193022, + ORPHA:124 ; biolink:category biolink:Disease . OMIM:618314 a owl:Class ; rdfs:label "hypomagnesemia, seizures, and mental retardation 2" ; IAO:0000142 PMID:30388404 ; - oboInOwl:hasDbXref UMLS:C5193023 ; oboInOwl:hasExactSynonym "HOMGSMR2", "hypomagnesemia, seizures, and mental retardation 2" ; rdfs:subClassOf OMIMPS:616418 ; + skos:exactMatch UMLS:C5193023 ; biolink:category biolink:Disease . OMIM:618316 a owl:Class ; rdfs:label "intellectual developmental disorder with cardiac defects and dysmorphic facies" ; IAO:0000142 PMID:30526868 ; - oboInOwl:hasDbXref UMLS:C5193024 ; oboInOwl:hasExactSynonym "IDDCDF", "intellectual developmental disorder with cardiac defects and dysmorphic facies" ; + skos:exactMatch UMLS:C5193024 ; biolink:category biolink:Disease . OMIM:618317 a owl:Class ; @@ -464946,10 +481635,10 @@ OMIM:618317 a owl:Class ; PMID:30460687, PMID:30649222, PMID:30656188 ; - oboInOwl:hasDbXref UMLS:C5193025 ; oboInOwl:hasExactSynonym "IBGC7", "basal ganglia calcification, idiopathic, 7, autosomal recessive" ; rdfs:subClassOf OMIMPS:213600 ; + skos:exactMatch UMLS:C5193025 ; biolink:category biolink:Disease . OMIM:618321 a owl:Class ; @@ -464957,20 +481646,20 @@ OMIM:618321 a owl:Class ; IAO:0000142 PMID:30576410, PMID:32462208, PMID:32462209 ; - oboInOwl:hasDbXref UMLS:C5193026, - ORPHA:555402 ; oboInOwl:hasExactSynonym "PEBEL2", "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2" ; rdfs:subClassOf OMIMPS:617186 ; + skos:exactMatch UMLS:C5193026, + ORPHA:555402 ; biolink:category biolink:Disease . OMIM:618324 a owl:Class ; rdfs:label "congenital disorder of glycosylation with defective fucosylation 2" ; IAO:0000142 PMID:30503518 ; - oboInOwl:hasDbXref UMLS:C5193028 ; oboInOwl:hasExactSynonym "CDGF2", "congenital disorder of glycosylation with defective fucosylation 2" ; rdfs:subClassOf OMIMPS:618005 ; + skos:exactMatch UMLS:C5193028 ; biolink:category biolink:Disease . OMIM:618325 a owl:Class ; @@ -464978,10 +481667,10 @@ OMIM:618325 a owl:Class ; IAO:0000142 PMID:24507697, PMID:24899269, PMID:30471716 ; - oboInOwl:hasDbXref UMLS:C5193029 ; oboInOwl:hasExactSynonym "LIS9", "lissencephaly 9 with complex brainstem malformation" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C5193029 ; biolink:category biolink:Disease . OMIM:618329 a owl:Class ; @@ -464989,26 +481678,26 @@ OMIM:618329 a owl:Class ; IAO:0000142 PMID:27485409, PMID:27623147, PMID:29618761 ; - oboInOwl:hasDbXref UMLS:C5193031 ; oboInOwl:hasExactSynonym "COXPD37", "combined oxidative phosphorylation deficiency 37" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5193031 ; biolink:category biolink:Disease . OMIM:618330 a owl:Class ; rdfs:label "global developmental delay with or without impaired intellectual development" ; IAO:0000142 PMID:30014507 ; - oboInOwl:hasDbXref UMLS:C5193032 ; oboInOwl:hasExactSynonym "GDDI", "global developmental delay with or without impaired intellectual development" ; + skos:exactMatch UMLS:C5193032 ; biolink:category biolink:Disease . OMIM:618331 a owl:Class ; rdfs:label "encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" ; IAO:0000142 PMID:30120216 ; - oboInOwl:hasDbXref UMLS:C5193033 ; oboInOwl:hasExactSynonym "PEERB", "encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" ; + skos:exactMatch UMLS:C5193033 ; biolink:category biolink:Disease . OMIM:618341 a owl:Class ; @@ -465016,19 +481705,19 @@ OMIM:618341 a owl:Class ; IAO:0000142 PMID:30683861, PMID:30686508, PMID:31292949 ; - oboInOwl:hasDbXref UMLS:C5193038 ; oboInOwl:hasExactSynonym "SPGF35", "spermatogenic failure 35" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5193038 ; biolink:category biolink:Disease . OMIM:618342 a owl:Class ; rdfs:label "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature" ; IAO:0000142 PMID:30526862, PMID:30778726 ; - oboInOwl:hasDbXref UMLS:C5193039 ; oboInOwl:hasExactSynonym "IDDABS", "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature" ; + skos:exactMatch UMLS:C5193039 ; biolink:category biolink:Disease . OMIM:618343 a owl:Class ; @@ -465040,35 +481729,35 @@ OMIM:618343 a owl:Class ; PMID:28258187, PMID:28742248, PMID:9050868 ; - oboInOwl:hasDbXref UMLS:C5193040 ; oboInOwl:hasExactSynonym "PMGEDSV", "polymicrogyria with or without vascular-type ehlers-danlos syndrome" ; + skos:exactMatch UMLS:C5193040 ; biolink:category biolink:Disease . OMIM:618345 a owl:Class ; rdfs:label "retinitis pigmentosa 85" ; IAO:0000142 PMID:29726989 ; - oboInOwl:hasDbXref UMLS:C5193041 ; oboInOwl:hasExactSynonym "RP85", "retinitis pigmentosa 85" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C5193041 ; biolink:category biolink:Disease . OMIM:618346 a owl:Class ; rdfs:label "microcephaly, growth deficiency, seizures, and brain malformations" ; IAO:0000142 PMID:26416026 ; - oboInOwl:hasDbXref UMLS:C5193042 ; oboInOwl:hasExactSynonym "MIGSB", "microcephaly, growth deficiency, seizures, and brain malformations" ; + skos:exactMatch UMLS:C5193042 ; biolink:category biolink:Disease . OMIM:618351 a owl:Class ; rdfs:label "microcephaly 25, primary, autosomal recessive" ; IAO:0000142 PMID:30715179 ; - oboInOwl:hasDbXref UMLS:C5193046 ; oboInOwl:hasExactSynonym "MCPH25", "microcephaly 25, primary, autosomal recessive" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C5193046 ; biolink:category biolink:Disease . OMIM:618353 a owl:Class ; @@ -465078,18 +481767,18 @@ OMIM:618353 a owl:Class ; PMID:29094202, PMID:29895852, PMID:30810869 ; - oboInOwl:hasDbXref UMLS:C5193047 ; oboInOwl:hasExactSynonym "OOMD6", "oocyte maturation defect 6" ; rdfs:subClassOf OMIMPS:615774 ; + skos:exactMatch UMLS:C5193047 ; biolink:category biolink:Disease . OMIM:618354 a owl:Class ; rdfs:label "neurodevelopmental disorder and language delay with or without structural brain abnormalities" ; IAO:0000142 PMID:30595372 ; - oboInOwl:hasDbXref UMLS:C5193048 ; oboInOwl:hasExactSynonym "NEDLBA", "neurodevelopmental disorder and language delay with or without structural brain abnormalities" ; + skos:exactMatch UMLS:C5193048 ; biolink:category biolink:Disease . OMIM:618356 a owl:Class ; @@ -465098,18 +481787,18 @@ OMIM:618356 a owl:Class ; PMID:28940097, PMID:30124836, PMID:30850329 ; - oboInOwl:hasDbXref UMLS:C5193049 ; oboInOwl:hasExactSynonym "NEDCPMD", "neurodevelopmental disorder with central and peripheral motor dysfunction" ; + skos:exactMatch UMLS:C5193049 ; biolink:category biolink:Disease . OMIM:618357 a owl:Class ; rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 15" ; IAO:0000142 PMID:27352968 ; - oboInOwl:hasDbXref UMLS:C5193050 ; oboInOwl:hasExactSynonym "EIG15", "epilepsy, idiopathic generalized, susceptibility to, 15" ; rdfs:subClassOf OMIMPS:600669 ; + skos:exactMatch UMLS:C5193050 ; biolink:category biolink:Disease . OMIM:618358 a owl:Class ; @@ -465118,19 +481807,19 @@ OMIM:618358 a owl:Class ; PMID:28005958, PMID:29718797, PMID:30459346 ; - oboInOwl:hasDbXref UMLS:C5193051 ; oboInOwl:hasExactSynonym "CRDHL2", "cone-rod dystrophy and hearing loss 2" ; rdfs:subClassOf OMIMPS:617236 ; + skos:exactMatch UMLS:C5193051 ; biolink:category biolink:Disease . OMIM:618360 a owl:Class ; rdfs:label "brain small vessel disease 3" ; IAO:0000142 PMID:30412317 ; - oboInOwl:hasDbXref UMLS:C5193053 ; oboInOwl:hasExactSynonym "BSVD3", "brain small vessel disease 3" ; rdfs:subClassOf OMIMPS:175780 ; + skos:exactMatch UMLS:C5193053 ; biolink:category biolink:Disease . OMIM:618362 a owl:Class ; @@ -465138,47 +481827,47 @@ OMIM:618362 a owl:Class ; IAO:0000142 PMID:25590979, PMID:27620904, PMID:30580808 ; - oboInOwl:hasDbXref UMLS:C5193054 ; oboInOwl:hasExactSynonym "CSS8", "coffin-siris syndrome 8" ; rdfs:subClassOf OMIMPS:135900, OMIMPS:156200 ; + skos:exactMatch UMLS:C5193054 ; biolink:category biolink:Disease . OMIM:618363 a owl:Class ; rdfs:label "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" ; IAO:0000142 PMID:29878199, PMID:30082715 ; - oboInOwl:hasDbXref UMLS:C5193055 ; oboInOwl:hasExactSynonym "SSASKS", "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" ; + skos:exactMatch UMLS:C5193055 ; biolink:category biolink:Disease . OMIM:618367 a owl:Class ; rdfs:label "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" ; IAO:0000142 PMID:30031689 ; - oboInOwl:hasDbXref UMLS:C5193057 ; oboInOwl:hasExactSynonym "NEDMEHM", "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" ; + skos:exactMatch UMLS:C5193057 ; biolink:category biolink:Disease . OMIM:618369 a owl:Class ; rdfs:label "spinocerebellar ataxia, autosomal recessive 27" ; IAO:0000142 PMID:30084953 ; - oboInOwl:hasDbXref UMLS:C5193058 ; oboInOwl:hasExactSynonym "SCAR27", "spinocerebellar ataxia, autosomal recessive 27" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C5193058 ; biolink:category biolink:Disease . OMIM:618371 a owl:Class ; rdfs:label "turnpenny-fry syndrome" ; IAO:0000142 PMID:25533962, PMID:30343942 ; - oboInOwl:hasDbXref UMLS:C5193060 ; oboInOwl:hasExactSynonym "TPFS", "neurocardioskeletal syndrome", "turnpenny-fry syndrome" ; + skos:exactMatch UMLS:C5193060 ; biolink:category biolink:Disease . OMIM:618372 a owl:Class ; @@ -465186,124 +481875,124 @@ OMIM:618372 a owl:Class ; IAO:0000142 PMID:18451993, PMID:23268370, PMID:25102815 ; - oboInOwl:hasDbXref UMLS:C5193061 ; oboInOwl:hasExactSynonym "GURDP", "gastrointestinal ulceration, recurrent, with dysfunctional platelets", "phospholipase a2, group iva, deficiency of" ; + skos:exactMatch UMLS:C5193061 ; biolink:category biolink:Disease . OMIM:618374 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 72" ; IAO:0000142 PMID:30323019 ; - oboInOwl:hasDbXref UMLS:C5193063 ; oboInOwl:hasExactSynonym "DEE72", "developmental and epileptic encephalopathy 72", "epileptic encephalopathy, early infantile, 72" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5193063 ; biolink:category biolink:Disease . OMIM:618378 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 38" ; IAO:0000142 PMID:30358850 ; - oboInOwl:hasDbXref UMLS:C5193064 ; oboInOwl:hasExactSynonym "COXPD38", "combined oxidative phosphorylation deficiency 38" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5193064 ; biolink:category biolink:Disease . OMIM:618379 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 73" ; IAO:0000142 PMID:30595371 ; - oboInOwl:hasDbXref UMLS:C5193065, - ORPHA:544503 ; oboInOwl:hasExactSynonym "DEE73", "developmental and epileptic encephalopathy 73", "epileptic encephalopathy, early infantile, 73" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5193065, + ORPHA:544503 ; biolink:category biolink:Disease . OMIM:618381 a owl:Class ; rdfs:label "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome" ; IAO:0000142 PMID:30290154 ; - oboInOwl:hasDbXref UMLS:C5193066 ; oboInOwl:hasExactSynonym "FHEIG", "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome" ; + skos:exactMatch UMLS:C5193066 ; biolink:category biolink:Disease . OMIM:618383 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 69" ; IAO:0000142 PMID:29893856 ; - oboInOwl:hasDbXref UMLS:C5193067 ; oboInOwl:hasExactSynonym "MRT69", "intellectual developmental disorder, autosomal recessive 69", "mental retardation, autosomal recessive 69" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C5193067 ; biolink:category biolink:Disease . OMIM:618384 a owl:Class ; rdfs:label "leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate" ; IAO:0000142 PMID:30635937 ; - oboInOwl:hasDbXref UMLS:C5193068 ; oboInOwl:hasExactSynonym "ARLIAK", "leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate" ; + skos:exactMatch UMLS:C5193068 ; biolink:category biolink:Disease . OMIM:618386 a owl:Class ; rdfs:label "amelogenesis imperfecta, iia 3c" ; IAO:0000142 PMID:30506946 ; - oboInOwl:hasDbXref UMLS:C5193069 ; oboInOwl:hasExactSynonym "AI3C", "amelogenesis imperfecta, iia 3c", "amelogenesis imperfecta, hypocalcification type, autosomal recessive" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C5193069 ; biolink:category biolink:Disease . OMIM:618387 a owl:Class ; rdfs:label "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3" ; IAO:0000142 PMID:27683825, PMID:29718187 ; - oboInOwl:hasDbXref UMLS:C5193070 ; oboInOwl:hasExactSynonym "SCAN3", "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3" ; rdfs:subClassOf OMIMPS:607250 ; + skos:exactMatch UMLS:C5193070 ; biolink:category biolink:Disease . OMIM:618392 a owl:Class ; rdfs:label "spondyloepiphyseal dysplasia, kondo-fu iia" ; IAO:0000142 PMID:30046013 ; - oboInOwl:hasDbXref UMLS:C5193071 ; oboInOwl:hasExactSynonym "SEDKF", "sed with elevated blood lysosomal enzymes", "spondyloepiphyseal dysplasia, kondo-fu iia" ; + skos:exactMatch UMLS:C5193071 ; biolink:category biolink:Disease . OMIM:618393 a owl:Class ; rdfs:label "fetal akinesia deformation sequence 4" ; IAO:0000142 PMID:30543681 ; - oboInOwl:hasDbXref UMLS:C4760578 ; oboInOwl:hasExactSynonym "FADS4", "fetal akinesia deformation sequence 4" ; rdfs:subClassOf OMIMPS:208150 ; + skos:exactMatch UMLS:C4760578 ; biolink:category biolink:Disease . OMIM:618394 a owl:Class ; rdfs:label "immunodeficiency 60 and autoimmunity" ; IAO:0000142 PMID:28530713 ; - oboInOwl:hasDbXref UMLS:C5193072 ; oboInOwl:hasExactSynonym "IMD60", "immunodeficiency 60 and autoimmunity", "immunodeficiency and autoimmunity, bach2-related" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5193072 ; biolink:category biolink:Disease . OMIM:618395 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia with joint laxity, iia 3" ; IAO:0000142 PMID:26669664, PMID:30284759 ; - oboInOwl:hasDbXref UMLS:C5193073 ; oboInOwl:hasExactSynonym "SEMDJL3", "spondyloepimetaphyseal dysplasia with joint laxity, iia 3" ; rdfs:subClassOf OMIMPS:271640 ; + skos:exactMatch UMLS:C5193073 ; biolink:category biolink:Disease . OMIM:618397 a owl:Class ; @@ -465311,32 +482000,32 @@ OMIM:618397 a owl:Class ; IAO:0000142 PMID:22700954, PMID:26016410, PMID:29075935 ; - oboInOwl:hasDbXref UMLS:C5193075, - ORPHA:565624 ; oboInOwl:hasExactSynonym "COXPD39", "combined oxidative phosphorylation deficiency 39" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5193075, + ORPHA:565624 ; biolink:category biolink:Disease . OMIM:618398 a owl:Class ; rdfs:label "t-cell lymphoma, subcutaneous panniculitis-like" ; IAO:0000142 PMID:30374066, PMID:30792187 ; - oboInOwl:hasDbXref UMLS:C0522624 ; oboInOwl:hasExactSynonym "SPTCL", "t-cell lymphoma, subcutaneous panniculitis-like" ; + skos:exactMatch UMLS:C0522624 ; biolink:category biolink:Disease . OMIM:618402 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 70" ; IAO:0000142 PMID:28640246, PMID:29522154 ; - oboInOwl:hasDbXref UMLS:C5193077, - ORPHA:88616 ; oboInOwl:hasExactSynonym "MRT70", "intellectual developmental disorder, autosomal recessive 70", "mental retardation, autosomal recessive 70" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C5193077, + ORPHA:88616 ; biolink:category biolink:Disease . OMIM:618404 a owl:Class ; @@ -465344,10 +482033,10 @@ OMIM:618404 a owl:Class ; IAO:0000142 PMID:30620337, PMID:30620338, PMID:31186544 ; - oboInOwl:hasDbXref UMLS:C5193078 ; oboInOwl:hasExactSynonym "HLD18", "leukodystrophy, hypomyelinating, 18" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C5193078 ; biolink:category biolink:Disease . OMIM:618406 a owl:Class ; @@ -465367,50 +482056,50 @@ OMIM:618406 a owl:Class ; PMID:31002796, PMID:9771698, PMID:9771699 ; - oboInOwl:hasDbXref UMLS:C4054546, - UMLS:C4759928, - ORPHA:71529 ; oboInOwl:hasExactSynonym "BMIQ20", "body mass index quantitative trait locus 20", "mc4r deficiency", "melanocortin 4 receptor deficiency", "obesity", "obesity, resistance to" ; + skos:exactMatch UMLS:C4054546, + UMLS:C4759928, + ORPHA:71529 ; biolink:category biolink:Disease . OMIM:618410 a owl:Class ; rdfs:label "deafness, autosomal recessive 113" ; IAO:0000142 PMID:29703829 ; - oboInOwl:hasDbXref UMLS:C5193079 ; oboInOwl:hasExactSynonym "DFNB113", "deafness, autosomal recessive 113" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C5193079 ; biolink:category biolink:Disease . OMIM:618412 a owl:Class ; rdfs:label "global developmental delay, progressive ataxia, and elevated glutamine" ; IAO:0000142 PMID:30970188 ; - oboInOwl:hasDbXref UMLS:C5193080 ; oboInOwl:hasExactSynonym "GDPAG", "global developmental delay, progressive ataxia, and elevated glutamine", "glutaminase deficiency with impaired intellectual development and progressive ataxia" ; + skos:exactMatch UMLS:C5193080 ; biolink:category biolink:Disease . OMIM:618414 a owl:Class ; rdfs:label "myopathy, congenital, with fast-twitch (type ii) fiber atrophy" ; IAO:0000142 PMID:30215711 ; - oboInOwl:hasDbXref UMLS:C5193081 ; oboInOwl:hasExactSynonym "MYOFTA", "myopathy, congenital, with fast-twitch (type ii) fiber atrophy" ; + skos:exactMatch UMLS:C5193081 ; biolink:category biolink:Disease . OMIM:618415 a owl:Class ; rdfs:label "cataract 48" ; IAO:0000142 PMID:30290152 ; - oboInOwl:hasDbXref UMLS:C5193082 ; oboInOwl:hasExactSynonym "CTRCT48", "cataract 48" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C5193082 ; biolink:category biolink:Disease . OMIM:618416 a owl:Class ; @@ -465418,65 +482107,65 @@ OMIM:618416 a owl:Class ; IAO:0000142 PMID:26541337, PMID:29327420, PMID:29923093 ; - oboInOwl:hasDbXref UMLS:C5193083 ; oboInOwl:hasExactSynonym "MECREN", "metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression" ; + skos:exactMatch UMLS:C5193083 ; biolink:category biolink:Disease . OMIM:618418 a owl:Class ; rdfs:label "spastic paraplegia 80, autosomal dominant" ; IAO:0000142 PMID:30929741, PMID:31203368 ; - oboInOwl:hasDbXref UMLS:C5193084 ; oboInOwl:hasExactSynonym "SPG80", "spastic paraplegia 80, autosomal dominant" ; + skos:exactMatch UMLS:C5193084 ; biolink:category biolink:Disease . OMIM:618420 a owl:Class ; rdfs:label "spermatogenic failure 36" ; IAO:0000142 PMID:30893644 ; - oboInOwl:hasDbXref UMLS:C5193086 ; oboInOwl:hasExactSynonym "SPGF36", "spermatogenic failure 36" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5193086 ; biolink:category biolink:Disease . OMIM:618422 a owl:Class ; rdfs:label "deafness, autosomal recessive 100" ; IAO:0000142 PMID:15538632, PMID:29590114 ; - oboInOwl:hasDbXref UMLS:C5193087, - ORPHA:90636 ; oboInOwl:hasExactSynonym "DFNB100", "deafness, autosomal recessive 100" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C5193087, + ORPHA:90636 ; biolink:category biolink:Disease . OMIM:618425 a owl:Class ; rdfs:label "neurodevelopmental disorder with impaired speech and hyperkinetic movements" ; IAO:0000142 PMID:31036918 ; - oboInOwl:hasDbXref UMLS:C5193088 ; oboInOwl:hasExactSynonym "NEDISHM", "neurodevelopmental disorder with impaired speech and hyperkinetic movements" ; + skos:exactMatch UMLS:C5193088 ; biolink:category biolink:Disease . OMIM:618426 a owl:Class ; rdfs:label "encephalopathy, acute, infection-induced, susceptibility to, 9" ; IAO:0000142 PMID:30758658, PMID:31178128 ; - oboInOwl:hasDbXref UMLS:C5193089 ; oboInOwl:hasExactSynonym "IIAE9", "encephalopathy, acute, infection-induced, susceptibility to, 9" ; rdfs:subClassOf OMIMPS:610551 ; + skos:exactMatch UMLS:C5193089 ; biolink:category biolink:Disease . OMIM:618429 a owl:Class ; rdfs:label "spermatogenic failure 37" ; IAO:0000142 PMID:30929735 ; - oboInOwl:hasDbXref UMLS:C5193091 ; oboInOwl:hasExactSynonym "SPGF37", "spermatogenic failure 37" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5193091 ; biolink:category biolink:Disease . OMIM:618430 a owl:Class ; @@ -465486,37 +482175,37 @@ OMIM:618430 a owl:Class ; PMID:28135719, PMID:30739909, PMID:30819258 ; - oboInOwl:hasDbXref UMLS:C5193092 ; oboInOwl:hasExactSynonym "DDVIBA", "developmental delay with variable intellectual impairment and behavioral abnormalities" ; + skos:exactMatch UMLS:C5193092 ; biolink:category biolink:Disease . OMIM:618431 a owl:Class ; rdfs:label "hydatidiform mole, recurrent, 3" ; IAO:0000142 PMID:30388401 ; - oboInOwl:hasDbXref UMLS:C5193093 ; oboInOwl:hasExactSynonym "HYDM3", "hydatidiform mole, recurrent, 3" ; rdfs:subClassOf OMIMPS:231090 ; + skos:exactMatch UMLS:C5193093 ; biolink:category biolink:Disease . OMIM:618432 a owl:Class ; rdfs:label "hydatidiform mole, recurrent, 4" ; IAO:0000142 PMID:30388401 ; - oboInOwl:hasDbXref UMLS:C5193094, - ORPHA:254688 ; oboInOwl:hasExactSynonym "HYDM4", "hydatidiform mole, recurrent, 4" ; rdfs:subClassOf OMIMPS:231090 ; + skos:exactMatch UMLS:C5193094, + ORPHA:254688 ; biolink:category biolink:Disease . OMIM:618433 a owl:Class ; rdfs:label "spermatogenic failure 38" ; IAO:0000142 PMID:30686508 ; - oboInOwl:hasDbXref UMLS:C5193095 ; oboInOwl:hasExactSynonym "SPGF38", "spermatogenic failure 38" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5193095 ; biolink:category biolink:Disease . OMIM:618435 a owl:Class ; @@ -465526,12 +482215,12 @@ OMIM:618435 a owl:Class ; PMID:19142688, PMID:21402185, PMID:25337069 ; - oboInOwl:hasDbXref UMLS:C5193097, - ORPHA:1146, - ORPHA:1147 ; oboInOwl:hasExactSynonym "DA2B2", "arthrogryposis, distal, iia 2b2" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C5193097, + ORPHA:1146, + ORPHA:1147 ; biolink:category biolink:Disease . OMIM:618437 a owl:Class ; @@ -465542,12 +482231,12 @@ OMIM:618437 a owl:Class ; PMID:28077841, PMID:29410512, PMID:29915213 ; - oboInOwl:hasDbXref UMLS:C5193099, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE75", "developmental and epileptic encephalopathy 75", "epileptic encephalopathy, early infantile, 75" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5193099, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:618438 a owl:Class ; @@ -465555,37 +482244,37 @@ OMIM:618438 a owl:Class ; IAO:0000142 PMID:23904602, PMID:27301361, PMID:29379881 ; - oboInOwl:hasDbXref UMLS:C5193100 ; oboInOwl:hasExactSynonym "SPAX9", "spastic ataxia 9, autosomal recessive" ; rdfs:subClassOf OMIMPS:108600 ; + skos:exactMatch UMLS:C5193100 ; biolink:category biolink:Disease . OMIM:618440 a owl:Class ; rdfs:label "oculoskeletodental syndrome" ; IAO:0000142 PMID:31034465 ; - oboInOwl:hasDbXref UMLS:C5193101 ; oboInOwl:hasExactSynonym "OCSKD", "cataracts, early-onset, with skeletal and dental anomalies", "oculoskeletodental syndrome" ; + skos:exactMatch UMLS:C5193101 ; biolink:category biolink:Disease . OMIM:618443 a owl:Class ; rdfs:label "neurodevelopmental disorder with or without variable brain abnormalities" ; IAO:0000142 PMID:30612693, PMID:30945334 ; - oboInOwl:hasDbXref UMLS:C5193102 ; oboInOwl:hasExactSynonym "NEDBA", "neurodevelopmental disorder with or without variable brain abnormalities" ; + skos:exactMatch UMLS:C5193102 ; biolink:category biolink:Disease . OMIM:618449 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 41" ; IAO:0000142 PMID:30665704 ; - oboInOwl:hasDbXref UMLS:C5193103 ; oboInOwl:hasExactSynonym "CILD41", "ciliary dyskinesia, primary, 41" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C5193103 ; biolink:category biolink:Disease . OMIM:618451 a owl:Class ; @@ -465595,17 +482284,17 @@ OMIM:618451 a owl:Class ; PMID:25771171, PMID:30915432, PMID:31243445 ; - oboInOwl:hasDbXref UMLS:C5193104 ; oboInOwl:hasExactSynonym "NDCAMA", "neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia" ; + skos:exactMatch UMLS:C5193104 ; biolink:category biolink:Disease . OMIM:618453 a owl:Class ; rdfs:label "intellectual developmental disorder with short stature and variable skeletal anomalies" ; IAO:0000142 PMID:30968111 ; - oboInOwl:hasDbXref UMLS:C5193105 ; oboInOwl:hasExactSynonym "IDDSSA", "intellectual developmental disorder with short stature and variable skeletal anomalies" ; + skos:exactMatch UMLS:C5193105 ; biolink:category biolink:Disease . OMIM:618454 a owl:Class ; @@ -465615,47 +482304,47 @@ OMIM:618454 a owl:Class ; PMID:28392909, PMID:30424743, PMID:30827496 ; - oboInOwl:hasDbXref UMLS:C5193106 ; oboInOwl:hasExactSynonym "DEDDFA", "developmental delay with or without dysmorphic facies and autism" ; + skos:exactMatch UMLS:C5193106 ; biolink:category biolink:Disease . OMIM:618456 a owl:Class ; rdfs:label "deafness, autosomal recessive 114" ; IAO:0000142 PMID:30610177 ; - oboInOwl:hasDbXref UMLS:C5193107 ; oboInOwl:hasExactSynonym "DFNB114", "deafness, autosomal recessive 114" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C5193107 ; biolink:category biolink:Disease . OMIM:618457 a owl:Class ; rdfs:label "deafness, autosomal recessive 115" ; IAO:0000142 PMID:30973865 ; - oboInOwl:hasDbXref UMLS:C5193108 ; oboInOwl:hasExactSynonym "DFNB115", "deafness, autosomal recessive 115" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C5193108 ; biolink:category biolink:Disease . OMIM:618459 a owl:Class ; rdfs:label "immunodeficiency 62" ; IAO:0000142 PMID:16286020, PMID:30521495 ; - oboInOwl:hasDbXref UMLS:C5193109 ; oboInOwl:hasExactSynonym "IMD62", "immunodeficiency 62" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5193109 ; biolink:category biolink:Disease . OMIM:618460 a owl:Class ; rdfs:label "khan-khan-katsanis syndrome" ; IAO:0000142 PMID:14729962, PMID:30609410 ; - oboInOwl:hasDbXref UMLS:C5193110 ; oboInOwl:hasExactSynonym "3KS", "3k syndrome", "khan-khan-katsanis syndrome" ; + skos:exactMatch UMLS:C5193110 ; biolink:category biolink:Disease . OMIM:618463 a owl:Class ; @@ -465689,39 +482378,39 @@ OMIM:618463 a owl:Class ; OMIM:618464 a owl:Class ; rdfs:label "paragangliomas 6" ; IAO:0000142 PMID:29431636 ; - oboInOwl:hasDbXref UMLS:C5193112 ; oboInOwl:hasExactSynonym "PGL6", "paragangliomas 6" ; rdfs:subClassOf OMIMPS:168000 ; + skos:exactMatch UMLS:C5193112 ; biolink:category biolink:Disease . OMIM:618469 a owl:Class ; rdfs:label "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b" ; IAO:0000142 PMID:29805041 ; - oboInOwl:hasDbXref UMLS:C5193114, - ORPHA:2990 ; oboInOwl:hasExactSynonym "CPSFS1B", "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b", "contractures, pterygia, and variable skeletal fusions syndrome 1b" ; rdfs:subClassOf OMIMPS:178110 ; + skos:exactMatch UMLS:C5193114, + ORPHA:2990 ; biolink:category biolink:Disease . OMIM:618470 a owl:Class ; rdfs:label "intellectual developmental disorder with severe speech and ambulation defects" ; IAO:0000142 PMID:31031012 ; - oboInOwl:hasDbXref UMLS:C5193115, - ORPHA:528084 ; oboInOwl:hasExactSynonym "IDDSSAD", "intellectual developmental disorder with severe speech and ambulation defects" ; + skos:exactMatch UMLS:C5193115, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:618475 a owl:Class ; rdfs:label "paragangliomas 7" ; IAO:0000142 PMID:30929736 ; - oboInOwl:hasDbXref UMLS:C5193116 ; oboInOwl:hasExactSynonym "PGL7", "paragangliomas 7" ; rdfs:subClassOf OMIMPS:168000 ; + skos:exactMatch UMLS:C5193116 ; biolink:category biolink:Disease . OMIM:618477 a owl:Class ; @@ -465729,9 +482418,9 @@ OMIM:618477 a owl:Class ; IAO:0000142 PMID:21998139, PMID:30658162, PMID:30847922 ; - oboInOwl:hasDbXref UMLS:C4760647 ; oboInOwl:hasExactSynonym "URCTU", "uridine-cytidineuria" ; + skos:exactMatch UMLS:C4760647 ; biolink:category biolink:Disease . OMIM:618479 a owl:Class ; @@ -465740,17 +482429,17 @@ OMIM:618479 a owl:Class ; PMID:27075597, PMID:27103078, PMID:30487245 ; - oboInOwl:hasDbXref UMLS:C5193118 ; oboInOwl:hasExactSynonym "COFG", "cerebellar, ocular, craniofacial, and genital syndrome" ; + skos:exactMatch UMLS:C5193118 ; biolink:category biolink:Disease . OMIM:618480 a owl:Class ; rdfs:label "neurodevelopmental disorder with seizures and speech and walking impairment" ; IAO:0000142 PMID:30661771 ; - oboInOwl:hasDbXref UMLS:C5193119 ; oboInOwl:hasExactSynonym "NEDSSWI", "neurodevelopmental disorder with seizures and speech and walking impairment" ; + skos:exactMatch UMLS:C5193119 ; biolink:category biolink:Disease . OMIM:618481 a owl:Class ; @@ -465758,31 +482447,31 @@ OMIM:618481 a owl:Class ; IAO:0000142 PMID:12673573, PMID:25331638, PMID:31656313 ; - oboInOwl:hasDbXref UMLS:C4760579, - ORPHA:90636 ; oboInOwl:hasExactSynonym "DFNB99", "deafness, autosomal recessive 99" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C4760579, + ORPHA:90636 ; biolink:category biolink:Disease . OMIM:618482 a owl:Class ; rdfs:label "generalized epilepsy with febrile seizures plus, iia 10" ; IAO:0000142 PMID:29936235, PMID:30351409 ; - oboInOwl:hasDbXref UMLS:C5193120, - ORPHA:36387 ; oboInOwl:hasExactSynonym "GEFSP10", "gefs+, iia 10", "generalized epilepsy with febrile seizures plus, iia 10" ; rdfs:subClassOf OMIMPS:604233 ; + skos:exactMatch UMLS:C5193120, + ORPHA:36387 ; biolink:category biolink:Disease . OMIM:618492 a owl:Class ; rdfs:label "neurodevelopmental disorder with microcephaly and structural brain anomalies" ; IAO:0000142 PMID:31079899 ; - oboInOwl:hasDbXref UMLS:C5193123 ; oboInOwl:hasExactSynonym "NEDMIBA", "neurodevelopmental disorder with microcephaly and structural brain anomalies" ; + skos:exactMatch UMLS:C5193123 ; biolink:category biolink:Disease . OMIM:618493 a owl:Class ; @@ -465790,9 +482479,9 @@ OMIM:618493 a owl:Class ; IAO:0000142 PMID:25078763, PMID:27466183, PMID:30940925 ; - oboInOwl:hasDbXref UMLS:C5193124 ; oboInOwl:hasExactSynonym "HIDEA", "hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities" ; + skos:exactMatch UMLS:C5193124 ; biolink:category biolink:Disease . OMIM:618495 a owl:Class ; @@ -465800,49 +482489,49 @@ OMIM:618495 a owl:Class ; IAO:0000142 PMID:31040184, PMID:31040185, PMID:7770771 ; - oboInOwl:hasDbXref UMLS:C5193126 ; oboInOwl:hasExactSynonym "IMD63", "cd122 deficiency", "il2rb deficiency", "immunodeficiency 63 with lymphoproliferation and autoimmunity", "interleukin 2 receptor, beta, deficiency of" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5193126 ; biolink:category biolink:Disease . OMIM:618496 a owl:Class ; rdfs:label "aortic valve disease 3" ; IAO:0000142 PMID:30455415 ; - oboInOwl:hasDbXref UMLS:C5193127 ; oboInOwl:hasExactSynonym "AOVD3", "aortic valve disease 3" ; rdfs:subClassOf OMIMPS:109730 ; + skos:exactMatch UMLS:C5193127 ; biolink:category biolink:Disease . OMIM:618497 a owl:Class ; rdfs:label "neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements" ; IAO:0000142 PMID:30982612 ; - oboInOwl:hasDbXref UMLS:C5193128 ; oboInOwl:hasExactSynonym "NEDNEH", "neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements" ; + skos:exactMatch UMLS:C5193128 ; biolink:category biolink:Disease . OMIM:618498 a owl:Class ; rdfs:label "polydactyly, postaxial, iia a10" ; IAO:0000142 PMID:30982135 ; - oboInOwl:hasDbXref UMLS:C5193129 ; oboInOwl:hasExactSynonym "PAPA10", "polydactyly, postaxial, iia a10" ; rdfs:subClassOf OMIMPS:174200 ; + skos:exactMatch UMLS:C5193129 ; biolink:category biolink:Disease . OMIM:618499 a owl:Class ; rdfs:label "noonan syndrome 11" ; IAO:0000142 PMID:28289718, PMID:31173466 ; - oboInOwl:hasDbXref UMLS:C5193130 ; oboInOwl:hasExactSynonym "NS11", "noonan syndrome 11" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C5193130 ; biolink:category biolink:Disease . OMIM:618501 a owl:Class ; @@ -465853,74 +482542,74 @@ OMIM:618501 a owl:Class ; PMID:24358150, PMID:29997391, PMID:30410802 ; - oboInOwl:hasDbXref UMLS:C5193132 ; oboInOwl:hasExactSynonym "CASVDD", "cerebellar atrophy with seizures and variable developmental delay" ; + skos:exactMatch UMLS:C5193132 ; biolink:category biolink:Disease . OMIM:618504 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal recessive 71" ; IAO:0000142 PMID:31079898 ; - oboInOwl:hasDbXref UMLS:C5193133 ; oboInOwl:hasExactSynonym "MRT71", "intellectual developmental disorder, autosomal recessive 71", "mental retardation, autosomal recessive 71" ; rdfs:subClassOf OMIMPS:249500 ; + skos:exactMatch UMLS:C5193133 ; biolink:category biolink:Disease . OMIM:618505 a owl:Class ; rdfs:label "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" ; IAO:0000142 PMID:31124279 ; - oboInOwl:hasDbXref UMLS:C5193134 ; oboInOwl:hasExactSynonym "NEDCFSA", "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" ; + skos:exactMatch UMLS:C5193134 ; biolink:category biolink:Disease . OMIM:618506 a owl:Class ; rdfs:label "coffin-siris syndrome 10" ; IAO:0000142 PMID:30661772 ; - oboInOwl:hasDbXref UMLS:C4760583 ; oboInOwl:hasExactSynonym "CSS10", "coffin-siris syndrome 10" ; rdfs:subClassOf OMIMPS:135900 ; + skos:exactMatch UMLS:C4760583 ; biolink:category biolink:Disease . OMIM:618511 a owl:Class ; rdfs:label "neuropathy, hereditary motor and sensory, iia vic, with optic atrophy" ; IAO:0000142 PMID:31187503 ; - oboInOwl:hasDbXref UMLS:C5193137 ; oboInOwl:hasExactSynonym "HMSN6C", "charcot-marie-tooth disease, iia 6c", "hmsn 6c", "neuropathy, hereditary motor and sensory, iia vic, with optic atrophy" ; + skos:exactMatch UMLS:C5193137 ; biolink:category biolink:Disease . OMIM:618512 a owl:Class ; rdfs:label "o'donnell-luria-rodan syndrome" ; IAO:0000142 PMID:31079897 ; - oboInOwl:hasDbXref UMLS:C5193138 ; oboInOwl:hasExactSynonym "ODLURO", "o'donnell-luria-rodan syndrome" ; + skos:exactMatch UMLS:C5193138 ; biolink:category biolink:Disease . OMIM:618513 a owl:Class ; rdfs:label "leber congenital amaurosis 19" ; IAO:0000142 PMID:30573563 ; - oboInOwl:hasDbXref UMLS:C5193139 ; oboInOwl:hasExactSynonym "LCA19", "leber congenital amaurosis 19" ; rdfs:subClassOf OMIMPS:204000 ; + skos:exactMatch UMLS:C5193139 ; biolink:category biolink:Disease . OMIM:618522 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 59" ; IAO:0000142 PMID:23033978, PMID:30184290 ; - oboInOwl:hasDbXref UMLS:C5193190 ; oboInOwl:hasExactSynonym "MRD59", "intellectual developmental disorder, autosomal dominant 59", "mental retardation, autosomal dominant 59" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C5193190 ; biolink:category biolink:Disease . OMIM:618524 a owl:Class ; @@ -465936,18 +482625,18 @@ OMIM:618527 a owl:Class ; rdfs:label "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" ; IAO:0000142 PMID:29496980, PMID:30487246 ; - oboInOwl:hasDbXref UMLS:C5193147 ; oboInOwl:hasExactSynonym "IKSHD", "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" ; + skos:exactMatch UMLS:C5193147 ; biolink:category biolink:Disease . OMIM:618529 a owl:Class ; rdfs:label "robinow syndrome, autosomal recessive 2" ; IAO:0000142 PMID:29276006 ; - oboInOwl:hasDbXref UMLS:C5193143 ; oboInOwl:hasExactSynonym "RRS2", "robinow syndrome, autosomal recessive 2" ; rdfs:subClassOf OMIMPS:268310 ; + skos:exactMatch UMLS:C5193143 ; biolink:category biolink:Disease . OMIM:618534 a owl:Class ; @@ -465957,20 +482646,20 @@ OMIM:618534 a owl:Class ; PMID:28822832, PMID:29155103, PMID:29282224 ; - oboInOwl:hasDbXref UMLS:C5231402, - ORPHA:3261 ; oboInOwl:hasExactSynonym "IMD64", "immunodeficiency 64" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5231402, + ORPHA:3261 ; biolink:category biolink:Disease . OMIM:618535 a owl:Class ; rdfs:label "ectodermal dysplasia 15, hypohidrotic/hair iia" ; IAO:0000142 PMID:30425301 ; - oboInOwl:hasDbXref UMLS:C5193145 ; oboInOwl:hasExactSynonym "ECTD15", "ectodermal dysplasia 15, hypohidrotic/hair iia" ; rdfs:subClassOf OMIMPS:305100 ; + skos:exactMatch UMLS:C5193145 ; biolink:category biolink:Disease . OMIM:618546 a owl:Class ; @@ -465987,8 +482676,6 @@ OMIM:618548 a owl:Class ; PMID:25558065, PMID:31148362, PMID:32588908 ; - oboInOwl:hasDbXref UMLS:C5231405, - ORPHA:1934 ; oboInOwl:hasExactSynonym "MCAHS4", "developmental and epileptic encephalopathy 77", "epileptic encephalopathy, early infantile, 77", @@ -465996,6 +482683,8 @@ OMIM:618548 a owl:Class ; "multiple congenital anomalies-hypotonia-seizures syndrome 4" ; rdfs:subClassOf OMIMPS:308350, OMIMPS:614080 ; + skos:exactMatch UMLS:C5231405, + ORPHA:1934 ; biolink:category biolink:Disease . OMIM:618549 a owl:Class ; @@ -466025,31 +482714,31 @@ OMIM:618559 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 79" ; IAO:0000142 PMID:29961870, PMID:31056671 ; - oboInOwl:hasDbXref UMLS:C5231410, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE79", "developmental and epileptic encephalopathy 79", "epileptic encephalopathy, early infantile, 79" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5231410, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:618567 a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 17" ; IAO:0000142 PMID:28973171 ; - oboInOwl:hasDbXref UMLS:C5231412 ; oboInOwl:hasExactSynonym "MTDPS17", "mitochondrial DNA depletion syndrome 17" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C5231412 ; biolink:category biolink:Disease . OMIM:618569 a owl:Class ; rdfs:label "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly" ; IAO:0000142 PMID:30607023, PMID:31363758 ; - oboInOwl:hasDbXref UMLS:C5231413, - ORPHA:528084 ; oboInOwl:hasExactSynonym "NEDAHM", "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly" ; + skos:exactMatch UMLS:C5231413, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:618571 a owl:Class ; @@ -466057,9 +482746,9 @@ OMIM:618571 a owl:Class ; IAO:0000142 PMID:28542170, PMID:30622326, PMID:31428919 ; - oboInOwl:hasDbXref UMLS:C5231414 ; oboInOwl:hasExactSynonym "NDCAGF", "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" ; + skos:exactMatch UMLS:C5231414 ; biolink:category biolink:Disease . OMIM:618572 a owl:Class ; @@ -466085,50 +482774,50 @@ OMIM:618577 a owl:Class ; rdfs:label "neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" ; IAO:0000142 PMID:29276006, PMID:30293988 ; - oboInOwl:hasDbXref UMLS:C5231416 ; oboInOwl:hasExactSynonym "NEDBAF", "neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" ; + skos:exactMatch UMLS:C5231416 ; biolink:category biolink:Disease . OMIM:618580 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 80" ; IAO:0000142 PMID:17343268, PMID:31256876 ; - oboInOwl:hasDbXref UMLS:C5231418 ; oboInOwl:hasExactSynonym "DEE80", "developmental and epileptic encephalopathy 80", "epileptic encephalopathy, early infantile, 80", "glycosylphosphatidylinositol biosynthesis defect 20" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5231418 ; biolink:category biolink:Disease . OMIM:618587 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 60, with seizures" ; IAO:0000142 PMID:31104773 ; - oboInOwl:hasDbXref UMLS:C5231497, - ORPHA:1942 ; oboInOwl:hasExactSynonym "MRD60", "intellectual developmental disorder, autosomal dominant 60, with seizures", "mental retardation, autosomal dominant 60, with seizures" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C5231497, + ORPHA:1942 ; biolink:category biolink:Disease . OMIM:618590 a owl:Class ; rdfs:label "neurodevelopmental disorder with brain anomalies, seizures, and scoliosis" ; IAO:0000142 PMID:31353022 ; - oboInOwl:hasDbXref UMLS:C5231419 ; oboInOwl:hasExactSynonym "NEDBSS", "glycosylphosphatidylinositol biosynthesis defect 21", "neurodevelopmental disorder with brain anomalies, seizures, and scoliosis" ; + skos:exactMatch UMLS:C5231419 ; biolink:category biolink:Disease . OMIM:618591 a owl:Class ; rdfs:label "short sleep, familial natural, 2" ; IAO:0000142 PMID:31473062 ; - oboInOwl:hasDbXref UMLS:C5231420 ; oboInOwl:hasExactSynonym "FNSS2", "short sleep, familial natural, 2" ; rdfs:subClassOf OMIMPS:612975 ; + skos:exactMatch UMLS:C5231420 ; biolink:category biolink:Disease . OMIM:618594 a owl:Class ; @@ -466142,10 +482831,10 @@ OMIM:618594 a owl:Class ; OMIM:618596 a owl:Class ; rdfs:label "epilepsy, idiopathic generalized, susceptibility to, 16" ; IAO:0000142 PMID:29330545 ; - oboInOwl:hasDbXref UMLS:C5231421 ; oboInOwl:hasExactSynonym "EIG16", "epilepsy, idiopathic generalized, susceptibility to, 16" ; rdfs:subClassOf OMIMPS:600669 ; + skos:exactMatch UMLS:C5231421 ; biolink:category biolink:Disease . OMIM:618598 a owl:Class ; @@ -466189,10 +482878,10 @@ OMIM:618608 a owl:Class ; PMID:30768759, PMID:31145527, PMID:31512373 ; - oboInOwl:hasDbXref UMLS:C5231426 ; oboInOwl:hasExactSynonym "IDNADFS", "chromosome 12q15 deletion syndrome", "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" ; + skos:exactMatch UMLS:C5231426 ; biolink:category biolink:Disease . OMIM:618612 a owl:Class ; @@ -466244,13 +482933,13 @@ OMIM:618625 a owl:Class ; rdfs:label "rothmund-thomson syndrome, iia 1" ; IAO:0000142 PMID:12734318, PMID:31303264 ; - oboInOwl:hasDbXref UMLS:C0032339, - UMLS:C5231433, - ORPHA:221008 ; oboInOwl:hasExactSynonym "RTS1", "poikiloderma atrophicans and cataract", "rothmund-thomson syndrome, iia 1" ; rdfs:subClassOf OMIMPS:268400 ; + skos:exactMatch UMLS:C0032339, + UMLS:C5231433, + ORPHA:221008 ; biolink:category biolink:Disease . OMIM:618635 a owl:Class ; @@ -466265,9 +482954,9 @@ OMIM:618635 a owl:Class ; OMIM:618637 a owl:Class ; rdfs:label "oculopharyngeal myopathy with leukoencephalopathy 1" ; IAO:0000142 PMID:31332380 ; - oboInOwl:hasDbXref UMLS:C5231436 ; oboInOwl:hasExactSynonym "OPML1", "oculopharyngeal myopathy with leukoencephalopathy 1" ; + skos:exactMatch UMLS:C5231436 ; biolink:category biolink:Disease . OMIM:618641 a owl:Class ; @@ -466289,10 +482978,10 @@ OMIM:618643 a owl:Class ; OMIM:618644 a owl:Class ; rdfs:label "osteogenesis imperfecta, iia 20" ; IAO:0000142 PMID:31564437 ; - oboInOwl:hasDbXref UMLS:C5231439 ; oboInOwl:hasExactSynonym "OI20", "osteogenesis imperfecta, iia 20" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C5231439 ; biolink:category biolink:Disease . OMIM:618646 a owl:Class ; @@ -466336,10 +483025,10 @@ OMIM:618652 a owl:Class ; OMIM:618653 a owl:Class ; rdfs:label "intellectual developmental disorder with impaired language and dysmorphic facies" ; IAO:0000142 PMID:31422817 ; - oboInOwl:hasDbXref UMLS:C5231444, - ORPHA:528084 ; oboInOwl:hasExactSynonym "IDDILF", "intellectual developmental disorder with impaired language and dysmorphic facies" ; + skos:exactMatch UMLS:C5231444, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:618655 a owl:Class ; @@ -466347,25 +483036,26 @@ OMIM:618655 a owl:Class ; IAO:0000142 PMID:30900782 ; oboInOwl:hasExactSynonym "MPD6", "myopathy, distal, 6, adult-onset, autosomal dominant" ; + rdfs:subClassOf OMIMPS:160500 ; biolink:category biolink:Disease . OMIM:618658 a owl:Class ; rdfs:label "zimmermann-laband syndrome 3" ; IAO:0000142 PMID:31155282 ; - oboInOwl:hasDbXref UMLS:C5231447, - ORPHA:3473 ; oboInOwl:hasExactSynonym "ZLS3", "zimmermann-laband syndrome 3" ; rdfs:subClassOf OMIMPS:135500 ; + skos:exactMatch UMLS:C5231447, + ORPHA:3473 ; biolink:category biolink:Disease . OMIM:618659 a owl:Class ; rdfs:label "neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies" ; IAO:0000142 PMID:30639322 ; - oboInOwl:hasDbXref UMLS:C5231448, - ORPHA:528084 ; oboInOwl:hasExactSynonym "NEDDFSA", "neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies" ; + skos:exactMatch UMLS:C5231448, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:618660 a owl:Class ; @@ -466398,11 +483088,11 @@ OMIM:618663 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 81" ; IAO:0000142 PMID:30237576, PMID:31688942 ; - oboInOwl:hasDbXref UMLS:C5231450 ; oboInOwl:hasExactSynonym "DEE81", "developmental and epileptic encephalopathy 81", "epileptic encephalopathy, early infantile, 81" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5231450 ; biolink:category biolink:Disease . OMIM:618664 a owl:Class ; @@ -466412,11 +483102,11 @@ OMIM:618664 a owl:Class ; PMID:31413122, PMID:31501240, PMID:31571197 ; - oboInOwl:hasDbXref UMLS:C5231451, - ORPHA:276234 ; oboInOwl:hasExactSynonym "SPGF40", "spermatogenic failure 40" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5231451, + ORPHA:276234 ; biolink:category biolink:Disease . OMIM:618665 a owl:Class ; @@ -466442,11 +483132,11 @@ OMIM:618666 a owl:Class ; PMID:31901240, PMID:9610773, PMID:9727073 ; - oboInOwl:hasDbXref UMLS:C5231453, - ORPHA:2882 ; oboInOwl:hasExactSynonym "STSL2", "sitosterolemia 2" ; rdfs:subClassOf OMIMPS:210250 ; + skos:exactMatch UMLS:C5231453, + ORPHA:2882 ; biolink:category biolink:Disease . OMIM:618667 a owl:Class ; @@ -466471,9 +483161,9 @@ OMIM:618672 a owl:Class ; rdfs:label "intellectual developmental disorder with speech delay, autism, and dysmorphic facies" ; IAO:0000142 PMID:28135719, PMID:31201375 ; - oboInOwl:hasDbXref UMLS:C5231456 ; oboInOwl:hasExactSynonym "IDDSADF", "intellectual developmental disorder with speech delay, autism, and dysmorphic facies" ; + skos:exactMatch UMLS:C5231456 ; biolink:category biolink:Disease . OMIM:618674 a owl:Class ; @@ -466487,9 +483177,9 @@ OMIM:618674 a owl:Class ; OMIM:618680 a owl:Class ; rdfs:label "pancreatic cancer, susceptibility to, 5" ; IAO:0000142 PMID:31406347 ; - oboInOwl:hasDbXref UMLS:C5231459 ; oboInOwl:hasExactSynonym "PNCA5", "pancreatic cancer, susceptibility to, 5" ; + skos:exactMatch UMLS:C5231459 ; biolink:category biolink:Disease . OMIM:618683 a owl:Class ; @@ -466533,11 +483223,11 @@ OMIM:618697 a owl:Class ; PMID:27307694, PMID:29947567, PMID:30628748 ; - oboInOwl:hasDbXref UMLS:C5231465, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP87", "retinitis pigmentosa 87 with choroidal involvement" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C5231465, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:618699 a owl:Class ; @@ -466545,28 +483235,28 @@ OMIM:618699 a owl:Class ; IAO:0000142 PMID:19011629, PMID:31630787, PMID:9739041 ; - oboInOwl:hasDbXref UMLS:C5231466 ; oboInOwl:hasExactSynonym "CILD43", "ciliary dyskinesia, primary, 43", "ciliary dyskinesia, primary, 43, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C5231466 ; biolink:category biolink:Disease . OMIM:618702 a owl:Class ; rdfs:label "short stature and microcephaly with genital anomalies" ; IAO:0000142 PMID:29228025 ; - oboInOwl:hasDbXref UMLS:C5231467 ; oboInOwl:hasExactSynonym "SSMGA", "short stature and microcephaly with genital anomalies" ; + skos:exactMatch UMLS:C5231467 ; biolink:category biolink:Disease . OMIM:618707 a owl:Class ; rdfs:label "neurodevelopmental disorder with absent language and variable seizures" ; IAO:0000142 PMID:29961568 ; - oboInOwl:hasDbXref UMLS:C5231469 ; oboInOwl:hasExactSynonym "NEDALVS", "ito-raymond syndrome", "neurodevelopmental disorder with absent language and variable seizures" ; + skos:exactMatch UMLS:C5231469 ; biolink:category biolink:Disease . OMIM:618709 a owl:Class ; @@ -466582,65 +483272,65 @@ OMIM:618718 a owl:Class ; PMID:31372774, PMID:31668703, PMID:31692205 ; - oboInOwl:hasDbXref UMLS:C5231471 ; oboInOwl:hasExactSynonym "NEDBASH", "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia" ; + skos:exactMatch UMLS:C5231471 ; biolink:category biolink:Disease . OMIM:618719 a owl:Class ; rdfs:label "megabladder, congenital" ; IAO:0000142 PMID:31513549 ; - oboInOwl:hasDbXref UMLS:C5231472 ; oboInOwl:hasExactSynonym "MGBL", "megabladder, congenital" ; + skos:exactMatch UMLS:C5231472 ; biolink:category biolink:Disease . OMIM:618721 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 82" ; IAO:0000142 PMID:31422819 ; - oboInOwl:hasDbXref UMLS:C5231473 ; oboInOwl:hasExactSynonym "DEE82", "developmental and epileptic encephalopathy 82", "epileptic encephalopathy, early infantile, 82", "glutamate oxaloacetate transaminase, mitochondrial, deficiency of", "got2 deficiency" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5231473 ; biolink:category biolink:Disease . OMIM:618723 a owl:Class ; rdfs:label "premature ovarian failure 16" ; IAO:0000142 PMID:30010909 ; - oboInOwl:hasDbXref UMLS:C5231474, - ORPHA:243 ; oboInOwl:hasExactSynonym "POF16", "premature ovarian failure 16" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C5231474, + ORPHA:243 ; biolink:category biolink:Disease . OMIM:618725 a owl:Class ; rdfs:label "intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures" ; IAO:0000142 PMID:30487643, PMID:31649809 ; - oboInOwl:hasDbXref UMLS:C5231476 ; oboInOwl:hasExactSynonym "IDDBCS", "intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures" ; + skos:exactMatch UMLS:C5231476 ; biolink:category biolink:Disease . OMIM:618727 a owl:Class ; rdfs:label "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies" ; IAO:0000142 PMID:31570889 ; - oboInOwl:hasDbXref UMLS:C5231477 ; oboInOwl:hasExactSynonym "EDFAOB", "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies" ; + skos:exactMatch UMLS:C5231477 ; biolink:category biolink:Disease . OMIM:618728 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, isidor-toutain iia" ; IAO:0000142 PMID:23956136, PMID:31630789 ; - oboInOwl:hasDbXref UMLS:C5231478 ; oboInOwl:hasExactSynonym "SEMDIST", "spondyloepimetaphyseal dysplasia, isidor-toutain iia" ; + skos:exactMatch UMLS:C5231478 ; biolink:category biolink:Disease . OMIM:618730 a owl:Class ; @@ -466648,19 +483338,19 @@ OMIM:618730 a owl:Class ; IAO:0000142 PMID:26395554, PMID:31586943, PMID:31735293 ; - oboInOwl:hasDbXref UMLS:C5231480 ; oboInOwl:hasExactSynonym "NEDMCMS", "neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity", "vandervore-schot syndrome" ; + skos:exactMatch UMLS:C5231480 ; biolink:category biolink:Disease . OMIM:618731 a owl:Class ; rdfs:label "neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies" ; IAO:0000142 PMID:26539891, PMID:31256877 ; - oboInOwl:hasDbXref UMLS:C5231481 ; oboInOwl:hasExactSynonym "NEDBAVC", "neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies" ; + skos:exactMatch UMLS:C5231481 ; biolink:category biolink:Disease . OMIM:618732 a owl:Class ; @@ -466669,28 +483359,28 @@ OMIM:618732 a owl:Class ; PMID:28762608, PMID:30655572, PMID:31784560 ; - oboInOwl:hasDbXref UMLS:C5231482 ; oboInOwl:hasExactSynonym "POBINDS", "poirier-bienvenu neurodevelopmental syndrome" ; + skos:exactMatch UMLS:C5231482 ; biolink:category biolink:Disease . OMIM:618733 a owl:Class ; rdfs:label "neuromuscular oculoauditory syndrome" ; IAO:0000142 PMID:31256877 ; - oboInOwl:hasDbXref UMLS:C5231483 ; oboInOwl:hasExactSynonym "NMOAS", "neuromuscular oculoauditory syndrome" ; + skos:exactMatch UMLS:C5231483 ; biolink:category biolink:Disease . OMIM:618734 a owl:Class ; rdfs:label "aneurysm, intracranial berry, 12" ; IAO:0000142 PMID:16736093, PMID:27895300 ; - oboInOwl:hasDbXref UMLS:C5231484, - ORPHA:231160 ; oboInOwl:hasExactSynonym "ANIB12", "aneurysm, intracranial berry, 12" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C5231484, + ORPHA:231160 ; biolink:category biolink:Disease . OMIM:618736 a owl:Class ; @@ -466698,37 +483388,37 @@ OMIM:618736 a owl:Class ; IAO:0000142 PMID:26340333, PMID:27884935, PMID:30391508 ; - oboInOwl:hasDbXref UMLS:C5231485 ; oboInOwl:hasExactSynonym "BAIDCS", "structural brain anomalies with impaired intellectual development and craniosynostosis" ; + skos:exactMatch UMLS:C5231485 ; biolink:category biolink:Disease . OMIM:618737 a owl:Class ; rdfs:label "pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures" ; IAO:0000142 PMID:31630790 ; - oboInOwl:hasDbXref UMLS:C5231486 ; oboInOwl:hasExactSynonym "PAMDDFS", "pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures" ; + skos:exactMatch UMLS:C5231486 ; biolink:category biolink:Disease . OMIM:618741 a owl:Class ; rdfs:label "neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy" ; IAO:0000142 PMID:30152084, PMID:31794024 ; - oboInOwl:hasDbXref UMLS:C5394027 ; oboInOwl:hasExactSynonym "NEDESBA", "neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy" ; + skos:exactMatch UMLS:C5394027 ; biolink:category biolink:Disease . OMIM:618744 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 83" ; IAO:0000142 PMID:31820119 ; - oboInOwl:hasDbXref UMLS:C5231487 ; oboInOwl:hasExactSynonym "DEE83", "barakat-perenthaler syndrome", "developmental and epileptic encephalopathy 83", "epileptic encephalopathy, early infantile, 83" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5231487 ; biolink:category biolink:Disease . OMIM:618745 a owl:Class ; @@ -466736,19 +483426,19 @@ OMIM:618745 a owl:Class ; IAO:0000142 PMID:30686508, PMID:31735292, PMID:31735294 ; - oboInOwl:hasDbXref UMLS:C5231488, - ORPHA:276234 ; oboInOwl:hasExactSynonym "SPGF42", "spermatogenic failure 42" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5231488, + ORPHA:276234 ; biolink:category biolink:Disease . OMIM:618748 a owl:Class ; rdfs:label "intellectual developmental disorder with hypotonia and behavioral abnormalities" ; IAO:0000142 PMID:30905399 ; - oboInOwl:hasDbXref UMLS:C5231489 ; oboInOwl:hasExactSynonym "IDDHBA", "intellectual developmental disorder with hypotonia and behavioral abnormalities" ; + skos:exactMatch UMLS:C5231489 ; biolink:category biolink:Disease . OMIM:618751 a owl:Class ; @@ -466757,65 +483447,65 @@ OMIM:618751 a owl:Class ; PMID:31048344, PMID:31151990, PMID:31278745 ; - oboInOwl:hasDbXref UMLS:C5231490, - ORPHA:276234 ; oboInOwl:hasExactSynonym "SPGF43", "spermatogenic failure 43" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5231490, + ORPHA:276234 ; biolink:category biolink:Disease . OMIM:618752 a owl:Class ; rdfs:label "neutropenia, severe congenital, 8, autosomal dominant" ; IAO:0000142 PMID:28972538, PMID:29914977 ; - oboInOwl:hasDbXref UMLS:C5203411, - ORPHA:486 ; oboInOwl:hasExactSynonym "SCN8", "neutropenia, severe congenital, 8, autosomal dominant", "neutropenia, severe congenital, 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities", "shwachman-diamond syndrome-like" ; rdfs:subClassOf OMIMPS:202700 ; + skos:exactMatch UMLS:C5203411, + ORPHA:486 ; biolink:category biolink:Disease . OMIM:618760 a owl:Class ; rdfs:label "neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements" ; IAO:0000142 PMID:15475946, PMID:30929742 ; - oboInOwl:hasDbXref UMLS:C5231491 ; oboInOwl:hasExactSynonym "NEDHAHM", "neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements" ; + skos:exactMatch UMLS:C5231491 ; biolink:category biolink:Disease . OMIM:618761 a owl:Class ; rdfs:label "catifa syndrome" ; IAO:0000142 PMID:27878435, PMID:31932796 ; - oboInOwl:hasDbXref UMLS:C5231492 ; oboInOwl:hasExactSynonym "CATIFA", "catifa syndrome", "cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder" ; + skos:exactMatch UMLS:C5231492 ; biolink:category biolink:Disease . OMIM:618763 a owl:Class ; rdfs:label "joubert syndrome 36" ; IAO:0000142 PMID:30905400 ; - oboInOwl:hasDbXref UMLS:C5231493, - ORPHA:2754 ; oboInOwl:hasExactSynonym "JBTS36", "joubert syndrome 36" ; rdfs:subClassOf OMIMPS:213300 ; + skos:exactMatch UMLS:C5231493, + ORPHA:2754 ; biolink:category biolink:Disease . OMIM:618766 a owl:Class ; rdfs:label "arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum" ; IAO:0000142 PMID:26203146, PMID:31960134 ; - oboInOwl:hasDbXref UMLS:C5231494 ; oboInOwl:hasExactSynonym "AMC4", "arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum", "arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum", "zain syndrome" ; rdfs:subClassOf OMIMPS:617468 ; + skos:exactMatch UMLS:C5231494 ; biolink:category biolink:Disease . OMIM:618767 a owl:Class ; @@ -466824,82 +483514,82 @@ OMIM:618767 a owl:Class ; PMID:18806880, PMID:26788030, PMID:9171831 ; - oboInOwl:hasDbXref UMLS:C5231495, - ORPHA:98954 ; oboInOwl:hasExactSynonym "MECD2", "corneal dystrophy, meesmann, 2" ; rdfs:subClassOf OMIMPS:122100 ; + skos:exactMatch UMLS:C5231495, + ORPHA:98954 ; biolink:category biolink:Disease . OMIM:618768 a owl:Class ; rdfs:label "spastic paraplegia 81, autosomal recessive" ; IAO:0000142 PMID:28052917, PMID:29500230 ; - oboInOwl:hasDbXref UMLS:C5394033, - ORPHA:506353 ; oboInOwl:hasExactSynonym "SPG81", "spastic paraplegia 81, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C5394033, + ORPHA:506353 ; biolink:category biolink:Disease . OMIM:618770 a owl:Class ; rdfs:label "spastic paraplegia 82, autosomal recessive" ; IAO:0000142 PMID:31637422 ; - oboInOwl:hasDbXref UMLS:C5394037 ; oboInOwl:hasExactSynonym "SPG82", "spastic paraplegia 82, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C5394037 ; biolink:category biolink:Disease . OMIM:618773 a owl:Class ; rdfs:label "lymphatic malformation 8" ; IAO:0000142 PMID:30115739 ; - oboInOwl:hasDbXref UMLS:C5231496 ; oboInOwl:hasExactSynonym "LMPHM8", "lymphatic malformation 8" ; rdfs:subClassOf OMIMPS:153100 ; + skos:exactMatch UMLS:C5231496 ; biolink:category biolink:Disease . OMIM:618775 a owl:Class ; rdfs:label "mitochondrial complex 3 deficiency, nuclear iia 10" ; IAO:0000142 PMID:31883641 ; - oboInOwl:hasDbXref UMLS:C5394051, - ORPHA:1460 ; oboInOwl:hasExactSynonym "MC3DN10", "mitochondrial complex 3 deficiency, nuclear iia 10" ; rdfs:subClassOf OMIMPS:124000 ; + skos:exactMatch UMLS:C5394051, + ORPHA:1460 ; biolink:category biolink:Disease . OMIM:618776 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 34" ; IAO:0000142 PMID:27499296, PMID:31866046 ; - oboInOwl:hasDbXref UMLS:C5394053, - ORPHA:2609 ; oboInOwl:hasExactSynonym "MC1DN34", "mitochondrial complex 1 deficiency, nuclear iia 34" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C5394053, + ORPHA:2609 ; biolink:category biolink:Disease . OMIM:618779 a owl:Class ; rdfs:label "coffin-siris syndrome 11" ; IAO:0000142 PMID:30879640 ; - oboInOwl:hasDbXref UMLS:C5241442, - ORPHA:1465 ; oboInOwl:hasExactSynonym "CSS11", "coffin-siris syndrome 11" ; rdfs:subClassOf OMIMPS:135900 ; + skos:exactMatch UMLS:C5241442, + ORPHA:1465 ; biolink:category biolink:Disease . OMIM:618781 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 44" ; IAO:0000142 PMID:31959991 ; - oboInOwl:hasDbXref UMLS:C5394063, - ORPHA:244 ; oboInOwl:hasExactSynonym "CILD44", "ciliary dyskinesia, primary, 44", "ciliary dyskinesia, primary, 44, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C5394063, + ORPHA:244 ; biolink:category biolink:Disease . OMIM:618782 a owl:Class ; @@ -466909,13 +483599,13 @@ OMIM:618782 a owl:Class ; PMID:27516456, PMID:31170290, PMID:31454269 ; - oboInOwl:hasDbXref UMLS:C5394068, - UMLS:C5394069 ; oboInOwl:hasExactSynonym "LQT16", "long qt syndrome 16", "ventricular tachycardia, catecholaminergic polymorphic 6" ; rdfs:subClassOf OMIMPS:192500, OMIMPS:604772 ; + skos:exactMatch UMLS:C5394068, + UMLS:C5394069 ; biolink:category biolink:Disease . OMIM:618786 a owl:Class ; @@ -466923,10 +483613,10 @@ OMIM:618786 a owl:Class ; IAO:0000142 PMID:28229514, PMID:30019515, PMID:31736240 ; - oboInOwl:hasDbXref UMLS:C5394073, - ORPHA:3447 ; oboInOwl:hasExactSynonym "IMMAS", "imagawa-matsumoto syndrome" ; + skos:exactMatch UMLS:C5394073, + ORPHA:3447 ; biolink:category biolink:Disease . OMIM:618787 a owl:Class ; @@ -466934,22 +483624,22 @@ OMIM:618787 a owl:Class ; IAO:0000142 PMID:30872814, PMID:31397523, PMID:31432506 ; - oboInOwl:hasDbXref UMLS:C5394080, - ORPHA:90635 ; oboInOwl:hasExactSynonym "DFNA76", "deafness, autosomal dominant 76" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C5394080, + ORPHA:90635 ; biolink:category biolink:Disease . OMIM:618792 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 84" ; IAO:0000142 PMID:32001716 ; - oboInOwl:hasDbXref UMLS:C5394081 ; oboInOwl:hasExactSynonym "DEE84", "developmental and epileptic encephalopathy 84", "epileptic encephalopathy, early ifantile, 84", "jamuar syndrome" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5394081 ; biolink:category biolink:Disease . OMIM:618793 a owl:Class ; @@ -466957,11 +483647,11 @@ OMIM:618793 a owl:Class ; IAO:0000142 PMID:20952458, PMID:27479843, PMID:29460436 ; - oboInOwl:hasDbXref UMLS:C5394083 ; oboInOwl:hasExactSynonym "MRD62", "intellectual developmental disorder, autosomal dominant 62", "mental retardation, autosomal dominant 62" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C5394083 ; biolink:category biolink:Disease . OMIM:618795 a owl:Class ; @@ -466970,27 +483660,27 @@ OMIM:618795 a owl:Class ; PMID:27881174, PMID:29717096, PMID:30872671 ; - oboInOwl:hasDbXref UMLS:C3495559, - ORPHA:85414 ; oboInOwl:hasExactSynonym "JUVAR", "juvenile arthritis" ; + skos:exactMatch UMLS:C3495559, + ORPHA:85414 ; biolink:category biolink:Disease . OMIM:618797 a owl:Class ; rdfs:label "neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation" ; IAO:0000142 PMID:19733229, PMID:32004447 ; - oboInOwl:hasDbXref UMLS:C5394091 ; oboInOwl:hasExactSynonym "NEDHRIT", "neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation" ; + skos:exactMatch UMLS:C5394091 ; biolink:category biolink:Disease . OMIM:618798 a owl:Class ; rdfs:label "beck-fahrner syndrome" ; IAO:0000142 PMID:31928709 ; - oboInOwl:hasDbXref UMLS:C5394097 ; oboInOwl:hasExactSynonym "BEFAHRS", "beck-fahrner syndrome" ; + skos:exactMatch UMLS:C5394097 ; biolink:category biolink:Disease . OMIM:618800 a owl:Class ; @@ -466998,38 +483688,38 @@ OMIM:618800 a owl:Class ; IAO:0000142 PMID:27307223, PMID:30214071, PMID:31168944 ; - oboInOwl:hasDbXref UMLS:C5394101 ; oboInOwl:hasExactSynonym "SCAR28", "spinocerebellar ataxia, autosomal recessive 28" ; rdfs:subClassOf OMIMPS:213200 ; + skos:exactMatch UMLS:C5394101 ; biolink:category biolink:Disease . OMIM:618801 a owl:Class ; rdfs:label "ciliary dyskinesia, primary, 45" ; IAO:0000142 PMID:31978331 ; - oboInOwl:hasDbXref UMLS:C5394104, - ORPHA:244 ; oboInOwl:hasExactSynonym "CILD45", "ciliary dyskinesia, primary, 45", "ciliary dyskinesia, primary, 45, without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C5394104, + ORPHA:244 ; biolink:category biolink:Disease . OMIM:618804 a owl:Class ; rdfs:label "sandestig-stefanova syndrome" ; IAO:0000142 PMID:32021605, PMID:32275884 ; - oboInOwl:hasDbXref UMLS:C5394118 ; oboInOwl:hasExactSynonym "SANDSTEF", "sandestig-stefanova syndrome" ; + skos:exactMatch UMLS:C5394118 ; biolink:category biolink:Disease . OMIM:618805 a owl:Class ; rdfs:label "triokinase and fmn cyclase deficiency syndrome" ; IAO:0000142 PMID:32004446 ; - oboInOwl:hasDbXref UMLS:C5394125 ; oboInOwl:hasExactSynonym "TKFCD", "triokinase and fmn cyclase deficiency syndrome" ; + skos:exactMatch UMLS:C5394125 ; biolink:category biolink:Disease . OMIM:618806 a owl:Class ; @@ -467039,10 +483729,10 @@ OMIM:618806 a owl:Class ; PMID:31447097, PMID:31566583, PMID:8911612 ; - oboInOwl:hasDbXref UMLS:C5394133, - ORPHA:169095 ; oboInOwl:hasExactSynonym "TLIND", "t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" ; + skos:exactMatch UMLS:C5394133, + ORPHA:169095 ; biolink:category biolink:Disease . OMIM:618807 a owl:Class ; @@ -467078,11 +483768,11 @@ OMIM:618807 a owl:Class ; PMID:8541836, PMID:9164807, PMID:9577282 ; - oboInOwl:hasDbXref UMLS:C5394134 ; oboInOwl:hasExactSynonym "LPAQTL", "lipoprotein(a) deficiency, congenital", "lipoprotein(a) quantitative trait locus", "lipoprotein(a), elevated level of" ; + skos:exactMatch UMLS:C5394134 ; biolink:category biolink:Disease . OMIM:618808 a owl:Class ; @@ -467090,9 +483780,9 @@ OMIM:618808 a owl:Class ; IAO:0000142 PMID:29302074, PMID:30237576, PMID:31047799 ; - oboInOwl:hasDbXref UMLS:C5394135 ; oboInOwl:hasExactSynonym "IDPOGSA", "intellectual developmental disorder with poor growth and with or without seizures or ataxia" ; + skos:exactMatch UMLS:C5394135 ; biolink:category biolink:Disease . OMIM:618810 a owl:Class ; @@ -467101,44 +483791,44 @@ OMIM:618810 a owl:Class ; PMID:28549128, PMID:29053797, PMID:31727539 ; - oboInOwl:hasDbXref UMLS:C5394137 ; oboInOwl:hasExactSynonym "PHRINL", "chromosome 1p36.33 deletion syndrome, atad3 gene cluster, autosomal recessive", "phrinl syndrome", "pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal" ; + skos:exactMatch UMLS:C5394137 ; biolink:category biolink:Disease . OMIM:618811 a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 18" ; IAO:0000142 PMID:29517768 ; - oboInOwl:hasDbXref UMLS:C5394140 ; oboInOwl:hasExactSynonym "MTDPS18", "mitochondrial DNA depletion syndrome 18" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C5394140 ; biolink:category biolink:Disease . OMIM:618820 a owl:Class ; rdfs:label "genitourinary and/or brain malformation syndrome" ; IAO:0000142 PMID:31883643 ; - oboInOwl:hasDbXref UMLS:C5394158 ; oboInOwl:hasExactSynonym "GUBS", "genitourinary and/or brain malformation syndrome" ; + skos:exactMatch UMLS:C5394158 ; biolink:category biolink:Disease . OMIM:618821 a owl:Class ; rdfs:label "rhizomelic limb shortening with dysmorphic features" ; IAO:0000142 PMID:30478137 ; - oboInOwl:hasDbXref UMLS:C5394173 ; oboInOwl:hasExactSynonym "RLSDF", "rhizomelic limb shortening with dysmorphic features" ; + skos:exactMatch UMLS:C5394173 ; biolink:category biolink:Disease . OMIM:618822 a owl:Class ; rdfs:label "myopathy, congenital, with respiratory insufficiency and bone fractures" ; IAO:0000142 PMID:30770808 ; - oboInOwl:hasDbXref UMLS:C5394189 ; oboInOwl:hasExactSynonym "MYORIBF", "myopathy, congenital, with respiratory insufficiency and bone fractures" ; + skos:exactMatch UMLS:C5394189 ; biolink:category biolink:Disease . OMIM:618824 a owl:Class ; @@ -467146,22 +483836,22 @@ OMIM:618824 a owl:Class ; IAO:0000142 PMID:26136916, PMID:31851307, PMID:32142645 ; - oboInOwl:hasDbXref UMLS:C5394199, - ORPHA:1980 ; oboInOwl:hasExactSynonym "IBGC8", "basal ganglia calcification, idiopathic, 8, autosomal recessive" ; rdfs:subClassOf OMIMPS:213600 ; + skos:exactMatch UMLS:C5394199, + ORPHA:1980 ; biolink:category biolink:Disease . OMIM:618825 a owl:Class ; rdfs:label "intellectual developmental disorder, autosomal dominant 63, with macrocephaly" ; IAO:0000142 PMID:27418539, PMID:32109419 ; - oboInOwl:hasDbXref UMLS:C5394205 ; oboInOwl:hasExactSynonym "MRD63", "intellectual developmental disorder, autosomal dominant 63, with macrocephaly", "mental retardation, autosomal dominant 63, with macrocephaly" ; rdfs:subClassOf OMIMPS:156200 ; + skos:exactMatch UMLS:C5394205 ; biolink:category biolink:Disease . OMIM:618826 a owl:Class ; @@ -467170,39 +483860,39 @@ OMIM:618826 a owl:Class ; PMID:30025130, PMID:31236346, PMID:31833436 ; - oboInOwl:hasDbXref UMLS:C5394208, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP88", "retinitis pigmentosa 88" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C5394208, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:618827 a owl:Class ; rdfs:label "myopia 27, autosomal dominant" ; IAO:0000142 PMID:30689892 ; - oboInOwl:hasDbXref UMLS:C5394215 ; oboInOwl:hasExactSynonym "MYP27", "myopia 27, autosomal dominant" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C5394215 ; biolink:category biolink:Disease . OMIM:618829 a owl:Class ; rdfs:label "nabais sa-de vries syndrome, iia 2" ; IAO:0000142 PMID:32109420 ; - oboInOwl:hasDbXref UMLS:C5394221 ; oboInOwl:hasExactSynonym "NSDVS2", "nabais sa-de vries syndrome, iia 2", "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" ; + skos:exactMatch UMLS:C5394221 ; biolink:category biolink:Disease . OMIM:618830 a owl:Class ; rdfs:label "autism, susceptibility to, 20" ; IAO:0000142 PMID:28841651, PMID:30460678 ; - oboInOwl:hasDbXref UMLS:C5394226 ; oboInOwl:hasExactSynonym "AUTS20", "autism, susceptibility to, 20" ; rdfs:subClassOf OMIMPS:209850 ; + skos:exactMatch UMLS:C5394226 ; biolink:category biolink:Disease . OMIM:618835 a owl:Class ; @@ -467210,106 +483900,106 @@ OMIM:618835 a owl:Class ; IAO:0000142 PMID:26741492, PMID:29440775, PMID:30283131 ; - oboInOwl:hasDbXref UMLS:C5394232, - ORPHA:570491 ; oboInOwl:hasExactSynonym "COXPD40", "combined oxidative phosphorylation deficiency 40" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5394232, + ORPHA:570491 ; biolink:category biolink:Disease . OMIM:618838 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 41" ; IAO:0000142 PMID:30283131 ; - oboInOwl:hasDbXref UMLS:C5394236 ; oboInOwl:hasExactSynonym "COXPD41", "combined oxidative phosphorylation deficiency 41" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5394236 ; biolink:category biolink:Disease . OMIM:618839 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 42" ; IAO:0000142 PMID:30283131 ; - oboInOwl:hasDbXref UMLS:C5394237 ; oboInOwl:hasExactSynonym "COXPD42", "combined oxidative phosphorylation deficiency 42" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5394237 ; biolink:category biolink:Disease . OMIM:618841 a owl:Class ; rdfs:label "hypogonadotropic hypogonadism 25 with anosmia" ; IAO:0000142 PMID:31883645 ; - oboInOwl:hasDbXref UMLS:C5394246, - ORPHA:478 ; oboInOwl:hasExactSynonym "HH25", "hypogonadotropic hypogonadism 25 with anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C5394246, + ORPHA:478 ; biolink:category biolink:Disease . OMIM:618845 a owl:Class ; rdfs:label "vertebral, cardiac, renal, and limb defects syndrome 3" ; IAO:0000142 PMID:31883644 ; - oboInOwl:hasDbXref UMLS:C5394250, - ORPHA:521438 ; oboInOwl:hasExactSynonym "VCRL3", "congenital nad deficiency disorder 3", "vertebral, cardiac, renal, and limb defects syndrome 3" ; rdfs:subClassOf OMIMPS:617660 ; + skos:exactMatch UMLS:C5394250, + ORPHA:521438 ; biolink:category biolink:Disease . OMIM:618846 a owl:Class ; rdfs:label "diets-jongmans syndrome" ; IAO:0000142 PMID:29351919, PMID:30929739 ; - oboInOwl:hasDbXref UMLS:C5394263 ; oboInOwl:hasExactSynonym "DIJOS", "diets-jongmans syndrome", "intellectual developmental disorder with distinctive facial dysmorphism" ; + skos:exactMatch UMLS:C5394263 ; biolink:category biolink:Disease . OMIM:618847 a owl:Class ; rdfs:label "immunodeficiency 66" ; IAO:0000142 PMID:26224645 ; - oboInOwl:hasDbXref UMLS:C5394265 ; oboInOwl:hasExactSynonym "IMD66", "immunodeficiency 66" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5394265 ; biolink:category biolink:Disease . OMIM:618848 a owl:Class ; rdfs:label "muscular dystrophy, limb-girdle, autosomal recessive 26" ; IAO:0000142 PMID:31610034 ; - oboInOwl:hasDbXref UMLS:C5394268 ; oboInOwl:hasExactSynonym "LGMDR26", "muscular dystrophy, limb-girdle, autosomal recessive 26" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C5394268 ; biolink:category biolink:Disease . OMIM:618849 a owl:Class ; rdfs:label "bone marrow failure syndrome 6" ; IAO:0000142 PMID:32300648 ; - oboInOwl:hasDbXref UMLS:C5394274 ; oboInOwl:hasExactSynonym "BMFS6", "bone marrow failure syndrome 6" ; rdfs:subClassOf OMIMPS:614675 ; + skos:exactMatch UMLS:C5394274 ; biolink:category biolink:Disease . OMIM:618850 a owl:Class ; rdfs:label "hypervalinemia and hyperleucine-isoleucinemia" ; IAO:0000142 PMID:25653144 ; - oboInOwl:hasDbXref UMLS:C5394277 ; oboInOwl:hasExactSynonym "HVLI", "branched-chain aminotransferase deficiency", "hypervalinemia and hyperleucine-isoleucinemia" ; + skos:exactMatch UMLS:C5394277 ; biolink:category biolink:Disease . OMIM:618851 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 43" ; IAO:0000142 PMID:22638997, PMID:30452684 ; - oboInOwl:hasDbXref UMLS:C5394284 ; oboInOwl:hasExactSynonym "COXPD43", "combined oxidative phosphorylation deficiency 43" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5394284 ; biolink:category biolink:Disease . OMIM:618853 a owl:Class ; @@ -467317,11 +484007,11 @@ OMIM:618853 a owl:Class ; IAO:0000142 PMID:26633546, PMID:29620724, PMID:31250547 ; - oboInOwl:hasDbXref UMLS:C5394289, - ORPHA:93347 ; oboInOwl:hasExactSynonym "ANXD3", "anauxetic dysplasia 3" ; rdfs:subClassOf OMIMPS:607095 ; + skos:exactMatch UMLS:C5394289, + ORPHA:93347 ; biolink:category biolink:Disease . OMIM:618855 a owl:Class ; @@ -467329,37 +484019,37 @@ OMIM:618855 a owl:Class ; IAO:0000142 PMID:18771761, PMID:28499982, PMID:31944455 ; - oboInOwl:hasDbXref UMLS:C5394293, - ORPHA:166105 ; oboInOwl:hasExactSynonym "COXPD44", "combined oxidative phosphorylation deficiency 44" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5394293, + ORPHA:166105 ; biolink:category biolink:Disease . OMIM:618859 a owl:Class ; rdfs:label "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" ; IAO:0000142 PMID:32197073 ; - oboInOwl:hasDbXref UMLS:C5394311 ; oboInOwl:hasExactSynonym "NEDASB", "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" ; + skos:exactMatch UMLS:C5394311 ; biolink:category biolink:Disease . OMIM:618862 a owl:Class ; rdfs:label "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" ; IAO:0000142 PMID:10894545, PMID:32220291 ; - oboInOwl:hasDbXref UMLS:C5394312 ; oboInOwl:hasExactSynonym "NEDHYMS", "neurodevelopmental disorder with hypotonia, microcephaly, and seizures" ; + skos:exactMatch UMLS:C5394312 ; biolink:category biolink:Disease . OMIM:618863 a owl:Class ; rdfs:label "retinal dystrophy with leukodystrophy" ; IAO:0000142 PMID:23105016, PMID:27799409 ; - oboInOwl:hasDbXref UMLS:C5394315 ; oboInOwl:hasExactSynonym "RDLKD", "retinal dystrophy with leukodystrophy" ; + skos:exactMatch UMLS:C5394315 ; biolink:category biolink:Disease . OMIM:618866 a owl:Class ; @@ -467368,19 +484058,19 @@ OMIM:618866 a owl:Class ; PMID:32449905, PMID:32495371, PMID:32516806 ; - oboInOwl:hasDbXref UMLS:C5394329 ; oboInOwl:hasExactSynonym "ETM6", "tremor, hereditary essential, 6" ; rdfs:subClassOf OMIMPS:190300 ; + skos:exactMatch UMLS:C5394329 ; biolink:category biolink:Disease . OMIM:618868 a owl:Class ; rdfs:label "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" ; IAO:0000142 PMID:28097321, PMID:31855247 ; - oboInOwl:hasDbXref UMLS:C5394335 ; oboInOwl:hasExactSynonym "CONATOC", "neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" ; + skos:exactMatch UMLS:C5394335 ; biolink:category biolink:Disease . OMIM:618870 a owl:Class ; @@ -467388,27 +484078,27 @@ OMIM:618870 a owl:Class ; IAO:0000142 PMID:27599773, PMID:31325655, PMID:31705726 ; - oboInOwl:hasDbXref UMLS:C5394341 ; oboInOwl:hasExactSynonym "SDJLABA", "skeletal dysplasia, mild, with joint laxity and advanced bone age" ; + skos:exactMatch UMLS:C5394341 ; biolink:category biolink:Disease . OMIM:618872 a owl:Class ; rdfs:label "nizon-isidor syndrome" ; IAO:0000142 PMID:31155615 ; - oboInOwl:hasDbXref UMLS:C5394350 ; oboInOwl:hasExactSynonym "NIZIDS", "nizon-isidor syndrome" ; + skos:exactMatch UMLS:C5394350 ; biolink:category biolink:Disease . OMIM:618873 a owl:Class ; rdfs:label "lissencephaly 10" ; IAO:0000142 PMID:12910438, PMID:32097630 ; - oboInOwl:hasDbXref UMLS:C5394354 ; oboInOwl:hasExactSynonym "LIS10", "lissencephaly 10" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C5394354 ; biolink:category biolink:Disease . OMIM:618875 a owl:Class ; @@ -467416,57 +484106,57 @@ OMIM:618875 a owl:Class ; IAO:0000142 PMID:28459434, PMID:32100099, PMID:32197075 ; - oboInOwl:hasDbXref UMLS:C5394359 ; oboInOwl:hasExactSynonym "SENEBAC", "seizures, early-onset, with neurodegeneration and brain calcifications" ; + skos:exactMatch UMLS:C5394359 ; biolink:category biolink:Disease . OMIM:618876 a owl:Class ; rdfs:label "epilepsy, progressive myoclonic, 11" ; IAO:0000142 PMID:32169168 ; - oboInOwl:hasDbXref UMLS:C5394362 ; oboInOwl:hasExactSynonym "EPM11", "epilepsy, progressive myoclonic, 11" ; rdfs:subClassOf OMIMPS:254800 ; + skos:exactMatch UMLS:C5394362 ; biolink:category biolink:Disease . OMIM:618877 a owl:Class ; rdfs:label "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" ; IAO:0000142 PMID:32197074 ; - oboInOwl:hasDbXref UMLS:C5394367 ; oboInOwl:hasExactSynonym "LEUDEN", "leuden syndrome", "leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" ; + skos:exactMatch UMLS:C5394367 ; biolink:category biolink:Disease . OMIM:618878 a owl:Class ; rdfs:label "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" ; IAO:0000142 PMID:32197074 ; - oboInOwl:hasDbXref UMLS:C5394371 ; oboInOwl:hasExactSynonym "LEMSPAD", "lemspad syndrome", "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" ; + skos:exactMatch UMLS:C5394371 ; biolink:category biolink:Disease . OMIM:618879 a owl:Class ; rdfs:label "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" ; IAO:0000142 PMID:32220290 ; - oboInOwl:hasDbXref UMLS:C5394372 ; oboInOwl:hasExactSynonym "NEDHCAS", "glycosylphosphatidylinositol biosynthesis defect 22", "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" ; + skos:exactMatch UMLS:C5394372 ; biolink:category biolink:Disease . OMIM:618881 a owl:Class ; rdfs:label "galactosemia 4" ; IAO:0000142 PMID:30451973, PMID:30910422 ; - oboInOwl:hasDbXref UMLS:C5394377, - ORPHA:570422 ; oboInOwl:hasExactSynonym "GALAC4", "galactose mutarotase deficiency", "galactosemia 4" ; rdfs:subClassOf OMIMPS:230400 ; + skos:exactMatch UMLS:C5394377, + ORPHA:570422 ; biolink:category biolink:Disease . OMIM:618882 a owl:Class ; @@ -467484,12 +484174,12 @@ OMIM:618882 a owl:Class ; PMID:24156255, PMID:26040326, PMID:6741523 ; - oboInOwl:hasDbXref UMLS:C4016948, - ORPHA:35858 ; oboInOwl:hasExactSynonym "IGS2", "imerslund-grasbeck syndrome 2", "megaloblastic anemia, norwegian iia" ; rdfs:subClassOf OMIMPS:261100 ; + skos:exactMatch UMLS:C4016948, + ORPHA:35858 ; biolink:category biolink:Disease . OMIM:618883 a owl:Class ; @@ -467502,40 +484192,40 @@ OMIM:618883 a owl:Class ; PMID:18583467, PMID:18712808, PMID:20190276 ; - oboInOwl:hasDbXref UMLS:C5394383, - ORPHA:99879 ; oboInOwl:hasExactSynonym "FIH2", "hypoparathyroidism, familial isolated, 2" ; rdfs:subClassOf OMIMPS:146200 ; + skos:exactMatch UMLS:C5394383, + ORPHA:99879 ; biolink:category biolink:Disease . OMIM:618884 a owl:Class ; rdfs:label "proteinuria, chronic benign" ; IAO:0000142 PMID:31613795 ; - oboInOwl:hasDbXref UMLS:C5394384 ; oboInOwl:hasExactSynonym "PROCHOB", "proteinuria, chronic benign" ; + skos:exactMatch UMLS:C5394384 ; biolink:category biolink:Disease . OMIM:618885 a owl:Class ; rdfs:label "congenital disorder of glycosylation, iia iit" ; IAO:0000142 PMID:27508872, PMID:32293671 ; - oboInOwl:hasDbXref UMLS:C5394387 ; oboInOwl:hasExactSynonym "CDG2T", "cdg iit", "congenital disorder of glycosylation, iia iit" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C5394387 ; biolink:category biolink:Disease . OMIM:618886 a owl:Class ; rdfs:label "pseudo-torch syndrome 3" ; IAO:0000142 PMID:31836668, PMID:32092142 ; - oboInOwl:hasDbXref UMLS:C5394391 ; oboInOwl:hasExactSynonym "PTORCH3", "pseudo-torch syndrome 3" ; rdfs:subClassOf OMIMPS:251290 ; + skos:exactMatch UMLS:C5394391 ; biolink:category biolink:Disease . OMIM:618889 a owl:Class ; @@ -467544,10 +484234,10 @@ OMIM:618889 a owl:Class ; PMID:30858161, PMID:31263216, PMID:3561949 ; - oboInOwl:hasDbXref UMLS:C5394404 ; oboInOwl:hasExactSynonym "LIBF", "liberfarb syndrome", "spondyloepimetaphyseal dysplasia, liberfarb iia" ; + skos:exactMatch UMLS:C5394404 ; biolink:category biolink:Disease . OMIM:618890 a owl:Class ; @@ -467557,17 +484247,17 @@ OMIM:618890 a owl:Class ; PMID:29090338, PMID:29899372, PMID:31395947 ; - oboInOwl:hasDbXref UMLS:C5394423 ; oboInOwl:hasExactSynonym "NEDBASS", "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" ; + skos:exactMatch UMLS:C5394423 ; biolink:category biolink:Disease . OMIM:618891 a owl:Class ; rdfs:label "microcephaly, developmental delay, and brittle hair syndrome" ; IAO:0000142 PMID:30824121 ; - oboInOwl:hasDbXref UMLS:C5394425 ; oboInOwl:hasExactSynonym "MDBH", "microcephaly, developmental delay, and brittle hair syndrome" ; + skos:exactMatch UMLS:C5394425 ; biolink:category biolink:Disease . OMIM:618892 a owl:Class ; @@ -467577,9 +484267,9 @@ OMIM:618892 a owl:Class ; PMID:6143037, PMID:6886003, PMID:7757079 ; - oboInOwl:hasDbXref UMLS:C0342859 ; oboInOwl:hasExactSynonym "HARPO", "harderoporphyria" ; + skos:exactMatch UMLS:C0342859 ; biolink:category biolink:Disease . OMIM:618906 a owl:Class ; @@ -467587,20 +484277,20 @@ OMIM:618906 a owl:Class ; IAO:0000142 PMID:23033978, PMID:24463507, PMID:31616000 ; - oboInOwl:hasDbXref UMLS:C5394447, - ORPHA:528084 ; oboInOwl:hasExactSynonym "IDDALDS", "intellectual developmental disorder with autistic features and language delay, with or without seizures" ; + skos:exactMatch UMLS:C5394447, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:618907 a owl:Class ; rdfs:label "silver-russell syndrome 4" ; IAO:0000142 PMID:28796236 ; - oboInOwl:hasDbXref UMLS:C5394450, - ORPHA:397590 ; oboInOwl:hasExactSynonym "SRS4", "silver-russell syndrome 4" ; rdfs:subClassOf OMIMPS:180860 ; + skos:exactMatch UMLS:C5394450, + ORPHA:397590 ; biolink:category biolink:Disease . OMIM:618908 a owl:Class ; @@ -467611,71 +484301,71 @@ OMIM:618908 a owl:Class ; PMID:29453418, PMID:29501611, PMID:29655892 ; - oboInOwl:hasDbXref UMLS:C5394456, - ORPHA:397590 ; oboInOwl:hasExactSynonym "SRS5", "silver-russell syndrome 5" ; rdfs:subClassOf OMIMPS:180860 ; + skos:exactMatch UMLS:C5394456, + ORPHA:397590 ; biolink:category biolink:Disease . OMIM:618910 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 86" ; IAO:0000142 PMID:32427860 ; - oboInOwl:hasDbXref UMLS:C5394462, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE86", "developmental and epileptic encephalopathy 86", "epileptic encephalopathy, early infantile, 86" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5394462, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:618912 a owl:Class ; rdfs:label "sorbitol dehydrogenase deficiency with peripheral neuropathy" ; IAO:0000142 PMID:32367058, PMID:9604875 ; - oboInOwl:hasDbXref UMLS:C5394466 ; oboInOwl:hasExactSynonym "SORDD", "sorbitol dehydrogenase deficiency", "sorbitol dehydrogenase deficiency with peripheral neuropathy" ; + skos:exactMatch UMLS:C5394466 ; biolink:category biolink:Disease . OMIM:618914 a owl:Class ; rdfs:label "neurodevelopmental, jaw, eye, and digital syndrome" ; IAO:0000142 PMID:16865294, PMID:31402090 ; - oboInOwl:hasDbXref UMLS:C5394477, - ORPHA:528084 ; oboInOwl:hasExactSynonym "NEDJED", "neurodevelopmental, jaw, eye, and digital syndrome" ; + skos:exactMatch UMLS:C5394477, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:618915 a owl:Class ; rdfs:label "deafness, autosomal dominant 77" ; IAO:0000142 PMID:31273342 ; - oboInOwl:hasDbXref UMLS:C5394499, - ORPHA:90635 ; oboInOwl:hasExactSynonym "DFNA77", "deafness, autosomal dominant 77" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C5394499, + ORPHA:90635 ; biolink:category biolink:Disease . OMIM:618916 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 87" ; IAO:0000142 PMID:32330417 ; - oboInOwl:hasDbXref UMLS:C5394501, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE87", "developmental and epileptic encephalopathy 87", "epileptic encephalopathy, early infantile, 87" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5394501, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:618917 a owl:Class ; rdfs:label "neurodevelopmental disorder with language impairment and behavioral abnormalities" ; IAO:0000142 PMID:31300657 ; - oboInOwl:hasDbXref UMLS:C5394502 ; oboInOwl:hasExactSynonym "NEDLIB", "neurodevelopmental disorder with language impairment and behavioral abnormalities" ; + skos:exactMatch UMLS:C5394502 ; biolink:category biolink:Disease . OMIM:618918 a owl:Class ; @@ -467683,11 +484373,11 @@ OMIM:618918 a owl:Class ; IAO:0000142 PMID:29738522, PMID:30150678, PMID:31317654 ; - oboInOwl:hasDbXref UMLS:C5394503, - ORPHA:98892 ; oboInOwl:hasExactSynonym "PVNH9", "periventricular nodular heterotopia 9" ; rdfs:subClassOf OMIMPS:300049 ; + skos:exactMatch UMLS:C5394503, + ORPHA:98892 ; biolink:category biolink:Disease . OMIM:618920 a owl:Class ; @@ -467695,12 +484385,12 @@ OMIM:618920 a owl:Class ; IAO:0000142 PMID:10721396, PMID:16569242, PMID:28280076 ; - oboInOwl:hasDbXref UMLS:C5394505, - ORPHA:293910 ; oboInOwl:hasExactSynonym "ARVD14", "arrhythmogenic right ventricular cardiomyopathy 14", "arrhythmogenic right ventricular dysplasia, familial, 14" ; rdfs:subClassOf OMIMPS:107970 ; + skos:exactMatch UMLS:C5394505, + ORPHA:293910 ; biolink:category biolink:Disease . OMIM:618922 a owl:Class ; @@ -467708,9 +484398,9 @@ OMIM:618922 a owl:Class ; IAO:0000142 PMID:27435318, PMID:28097321, PMID:32286009 ; - oboInOwl:hasDbXref UMLS:C5394517 ; oboInOwl:hasExactSynonym "NEDSHBA", "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" ; + skos:exactMatch UMLS:C5394517 ; biolink:category biolink:Disease . OMIM:618935 a owl:Class ; @@ -467718,23 +484408,23 @@ OMIM:618935 a owl:Class ; IAO:0000142 PMID:28600779, PMID:30312704, PMID:30361506 ; - oboInOwl:hasDbXref UMLS:C5394542, - ORPHA:379 ; oboInOwl:hasExactSynonym "CGD5", "granulomatous disease, chronic, autosomal recessive, 5", "granulomatous disease, chronic, due to cybc1 deficiency" ; rdfs:subClassOf OMIMPS:306400 ; + skos:exactMatch UMLS:C5394542, + ORPHA:379 ; biolink:category biolink:Disease . OMIM:618939 a owl:Class ; rdfs:label "treacher collins syndrome 4" ; IAO:0000142 PMID:25790162, PMID:31649276 ; - oboInOwl:hasDbXref UMLS:C5394546, - ORPHA:861 ; oboInOwl:hasExactSynonym "TCS4", "treacher collins syndrome 4" ; rdfs:subClassOf OMIMPS:154500 ; + skos:exactMatch UMLS:C5394546, + ORPHA:861 ; biolink:category biolink:Disease . OMIM:618940 a owl:Class ; @@ -467743,133 +484433,134 @@ OMIM:618940 a owl:Class ; PMID:26039504, PMID:32413282, PMID:33374016 ; - oboInOwl:hasDbXref UMLS:C5394548, - ORPHA:98897 ; oboInOwl:hasExactSynonym "OPDM2", "oculopharyngodistal myopathy 2" ; rdfs:subClassOf OMIMPS:164310 ; + skos:exactMatch UMLS:C5394548, + ORPHA:98897 ; biolink:category biolink:Disease . OMIM:618948 a owl:Class ; rdfs:label "heterotaxy, visceral, 9, autosomal, with male infertility" ; IAO:0000142 PMID:30148830, PMID:31534215 ; - oboInOwl:hasDbXref UMLS:C5394551 ; oboInOwl:hasExactSynonym "HTX9", "heterotaxy, visceral, 9, autosomal, with male infertility" ; rdfs:subClassOf OMIMPS:306955 ; + skos:exactMatch UMLS:C5394551 ; biolink:category biolink:Disease . OMIM:618950 a owl:Class ; rdfs:label "suleiman-el-hattab syndrome" ; IAO:0000142 PMID:29633245, PMID:31209944 ; - oboInOwl:hasDbXref UMLS:C5436458 ; oboInOwl:hasExactSynonym "SULEHS", "suleiman-el-hattab syndrome" ; + skos:exactMatch UMLS:C5436458 ; biolink:category biolink:Disease . OMIM:618951 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 45" ; IAO:0000142 PMID:23603806 ; - oboInOwl:hasDbXref UMLS:C5436461 ; oboInOwl:hasExactSynonym "COXPD45", "combined oxidative phosphorylation deficiency 45" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5436461 ; biolink:category biolink:Disease . OMIM:618952 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 46" ; IAO:0000142 PMID:26741492 ; - oboInOwl:hasDbXref UMLS:C5436466 ; oboInOwl:hasExactSynonym "COXPD46", "combined oxidative phosphorylation deficiency 46" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5436466 ; biolink:category biolink:Disease . OMIM:618954 a owl:Class ; rdfs:label "cytochrome p450, family 4, subfamily z, member 2, pseudogene" ; IAO:0000142 PMID:15059886, PMID:25701119 ; - oboInOwl:hasDbXref UMLS:C2681396 ; oboInOwl:hasExactSynonym "CYP4Z2P", "cytochrome p450, family 4, subfamily z, member 2, pseudogene" ; - skos:exactMatch HGNC_symbol:CYP4Z2P . + skos:exactMatch UMLS:C2681396, + HGNC:24426, + HGNC_symbol:CYP4Z2P . OMIM:618955 a owl:Class ; rdfs:label "retinitis pigmentosa 89" ; IAO:0000142 PMID:26258614, PMID:32386558 ; - oboInOwl:hasDbXref UMLS:C5394552, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP89", "retinitis pigmentosa 89" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C5394552, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:618958 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 47" ; IAO:0000142 PMID:30566640, PMID:8989468 ; - oboInOwl:hasDbXref UMLS:C5436476 ; oboInOwl:hasExactSynonym "COXPD47", "combined oxidative phosphorylation deficiency 47" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5436476 ; biolink:category biolink:Disease . OMIM:618959 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 88" ; IAO:0000142 PMID:31538237 ; - oboInOwl:hasDbXref UMLS:C5394553, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE88", "developmental and epileptic encephalopathy 88", "epileptic encephalopathy, early infantile, 88" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5394553, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:618961 a owl:Class ; rdfs:label "spondylometaphyseal dysplasia with corneal dystrophy" ; IAO:0000142 PMID:29122926 ; - oboInOwl:hasDbXref UMLS:C5394555, - ORPHA:589435 ; oboInOwl:hasExactSynonym "SMDCD", "spondylometaphyseal dysplasia with corneal dystrophy" ; + skos:exactMatch UMLS:C5394555, + ORPHA:589435 ; biolink:category biolink:Disease . OMIM:618969 a owl:Class ; rdfs:label "immunodeficiency 70" ; IAO:0000142 PMID:32499645 ; - oboInOwl:hasDbXref UMLS:C5436501 ; oboInOwl:hasExactSynonym "IMD70", "immunodeficiency 70" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5436501 ; biolink:category biolink:Disease . OMIM:618970 a owl:Class ; rdfs:label "cone-rod synaptic disorder syndrome, congenital nonprogressive" ; IAO:0000142 PMID:32470375 ; - oboInOwl:hasDbXref UMLS:C5436505 ; oboInOwl:hasExactSynonym "CRSDS", "cone-rod synaptic disorder syndrome, congenital nonprogressive" ; + skos:exactMatch UMLS:C5436505 ; biolink:category biolink:Disease . OMIM:618971 a owl:Class ; rdfs:label "tolchin-le caignec syndrome" ; IAO:0000142 PMID:32442410 ; - oboInOwl:hasDbXref UMLS:C5436509 ; oboInOwl:hasExactSynonym "TOLCAS", "intellectual developmental disorder with behavioral abnormalities and variable bone defects", "tolchin-le caignec syndrome" ; + skos:exactMatch UMLS:C5436509 ; biolink:category biolink:Disease . OMIM:618972 a owl:Class ; rdfs:label "mitochondrial DNA depletion syndrome 19" ; IAO:0000142 PMID:29211846 ; - oboInOwl:hasDbXref UMLS:C5436514 ; oboInOwl:hasExactSynonym "MTDPS19", "mitochondrial DNA depletion syndrome 19" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C5436514 ; biolink:category biolink:Disease . OMIM:618973 a owl:Class ; @@ -467877,20 +484568,20 @@ OMIM:618973 a owl:Class ; IAO:0000142 PMID:27904971, PMID:29669219, PMID:31754459 ; - oboInOwl:hasDbXref UMLS:C5436520 ; oboInOwl:hasExactSynonym "NERIB", "neurodegeneration, infantile-onset, biotin-responsive", "smvt deficiency", "sodium-dependent multivitamin transporter deficiency" ; + skos:exactMatch UMLS:C5436520 ; biolink:category biolink:Disease . OMIM:618974 a owl:Class ; rdfs:label "li-ghorbani-weisz-hubshman syndrome" ; IAO:0000142 PMID:31794431 ; - oboInOwl:hasDbXref UMLS:C5436525, - ORPHA:528084 ; oboInOwl:hasExactSynonym "LIGOWS", "li-ghorbani-weisz-hubshman syndrome" ; + skos:exactMatch UMLS:C5436525, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:618975 a owl:Class ; @@ -467898,10 +484589,10 @@ OMIM:618975 a owl:Class ; IAO:0000142 PMID:26733463, PMID:30403323, PMID:31260566 ; - oboInOwl:hasDbXref UMLS:C5436530 ; oboInOwl:hasExactSynonym "MYODRIF", "myopathy, congenital, due to myod1 deficiency", "myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies" ; + skos:exactMatch UMLS:C5436530 ; biolink:category biolink:Disease . OMIM:618982 a owl:Class ; @@ -467909,10 +484600,10 @@ OMIM:618982 a owl:Class ; IAO:0000142 PMID:19015308, PMID:32646852, PMID:32647003 ; - oboInOwl:hasDbXref UMLS:C5436540 ; oboInOwl:hasExactSynonym "IMD72", "immunodeficiency 72 with autoinflammation" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5436540 ; biolink:category biolink:Disease . OMIM:618983 a owl:Class ; @@ -467928,11 +484619,11 @@ OMIM:618983 a owl:Class ; PMID:8914633, PMID:8943285, PMID:9703429 ; - oboInOwl:hasDbXref UMLS:C0023595 ; oboInOwl:hasExactSynonym "LE", "blood group, lewis system", "lewis blood group system", "lewis-negative phenotype" ; + skos:exactMatch UMLS:C0023595 ; biolink:category biolink:Disease . OMIM:618986 a owl:Class ; @@ -467943,30 +484634,30 @@ OMIM:618986 a owl:Class ; PMID:31382036, PMID:31491520, PMID:32542921 ; - oboInOwl:hasDbXref UMLS:C5436549 ; oboInOwl:hasExactSynonym "IMD73B", "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C5436549 ; biolink:category biolink:Disease . OMIM:618998 a owl:Class ; rdfs:label "immune dysregulation and systemic hyperinflammation syndrome" ; IAO:0000142 PMID:15917799, PMID:31636267 ; - oboInOwl:hasDbXref UMLS:C5436563 ; oboInOwl:hasExactSynonym "IMDYSHI", "hemophagocytic lymphohistiocytosis, familial, 6, formerly", "immune dysregulation and systemic hyperinflammation syndrome" ; + skos:exactMatch UMLS:C5436563 ; biolink:category biolink:Disease . OMIM:618999 a owl:Class ; rdfs:label "autoinflammation, immune dysregulation, and eosinophilia" ; IAO:0000142 PMID:28111307, PMID:32750333 ; - oboInOwl:hasDbXref UMLS:C5436572 ; oboInOwl:hasExactSynonym "AIIDE", "atopic dermatitis, enteritis, colitis, and eosinophilia", "autoinflammation, immune dysregulation, and eosinophilia" ; + skos:exactMatch UMLS:C5436572 ; biolink:category biolink:Disease . OMIM:619000 a owl:Class ; @@ -467977,19 +484668,19 @@ OMIM:619000 a owl:Class ; PMID:31110234, PMID:31685013, PMID:32546566 ; - oboInOwl:hasDbXref UMLS:C5436574, - ORPHA:528084 ; oboInOwl:hasExactSynonym "IDDSELD", "intellectual developmental disorder with seizures and language delay" ; + skos:exactMatch UMLS:C5436574, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:619003 a owl:Class ; rdfs:label "mitochondrial complex 1 deficiency, nuclear iia 35" ; IAO:0000142 PMID:28040730 ; - oboInOwl:hasDbXref UMLS:C5436576 ; oboInOwl:hasExactSynonym "MC1DN35", "mitochondrial complex 1 deficiency, nuclear iia 35" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C5436576 ; biolink:category biolink:Disease . OMIM:619005 a owl:Class ; @@ -467997,9 +484688,9 @@ OMIM:619005 a owl:Class ; IAO:0000142 PMID:28940097, PMID:29302074, PMID:32761064 ; - oboInOwl:hasDbXref UMLS:C5436585 ; oboInOwl:hasExactSynonym "NEDDISH", "neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia" ; + skos:exactMatch UMLS:C5436585 ; biolink:category biolink:Disease . OMIM:619007 a owl:Class ; @@ -468007,67 +484698,67 @@ OMIM:619007 a owl:Class ; IAO:0000142 PMID:28412069, PMID:30058936, PMID:31012789 ; - oboInOwl:hasDbXref UMLS:C5436588, - ORPHA:791 ; oboInOwl:hasExactSynonym "RP90", "retinitis pigmentosa 90" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C5436588, + ORPHA:791 ; biolink:category biolink:Disease . OMIM:619009 a owl:Class ; rdfs:label "oocyte maturation defect 8" ; IAO:0000142 PMID:32502391 ; - oboInOwl:hasDbXref UMLS:C5436597 ; oboInOwl:hasExactSynonym "OOMD8", "oocyte maturation defect 8" ; rdfs:subClassOf OMIMPS:615774 ; + skos:exactMatch UMLS:C5436597 ; biolink:category biolink:Disease . OMIM:619011 a owl:Class ; rdfs:label "oocyte maturation defect 9" ; IAO:0000142 PMID:32473092 ; - oboInOwl:hasDbXref UMLS:C5436599 ; oboInOwl:hasExactSynonym "OOMD9", "oocyte maturation defect 9" ; rdfs:subClassOf OMIMPS:615774 ; + skos:exactMatch UMLS:C5436599 ; biolink:category biolink:Disease . OMIM:619012 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 48" ; IAO:0000142 PMID:27356879, PMID:32488845 ; - oboInOwl:hasDbXref UMLS:C5436602 ; oboInOwl:hasExactSynonym "COXPD48", "combined oxidative phosphorylation deficiency 48" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5436602 ; biolink:category biolink:Disease . OMIM:619013 a owl:Class ; rdfs:label "rajab interstitial lung disease with brain calcifications 2" ; IAO:0000142 PMID:31355908 ; - oboInOwl:hasDbXref UMLS:C5436603, - ORPHA:178506 ; oboInOwl:hasExactSynonym "RILDBC2", "rajab interstitial lung disease with brain calcifications 2" ; rdfs:subClassOf OMIMPS:613658 ; + skos:exactMatch UMLS:C5436603, + ORPHA:178506 ; biolink:category biolink:Disease . OMIM:619024 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 49" ; IAO:0000142 PMID:29361167 ; - oboInOwl:hasDbXref UMLS:C5436616 ; oboInOwl:hasExactSynonym "COXPD49", "combined oxidative phosphorylation deficiency 49" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5436616 ; biolink:category biolink:Disease . OMIM:619025 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 50" ; IAO:0000142 PMID:31039582 ; - oboInOwl:hasDbXref UMLS:C5436623 ; oboInOwl:hasExactSynonym "COXPD50", "combined oxidative phosphorylation deficiency 50" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5436623 ; biolink:category biolink:Disease . OMIM:619026 a owl:Class ; @@ -468078,30 +484769,30 @@ OMIM:619026 a owl:Class ; PMID:33970200, PMID:9084927, PMID:9973289 ; - oboInOwl:hasDbXref UMLS:C5436628 ; oboInOwl:hasExactSynonym "NEDSWMA", "cerebral palsy, spastic quadriplegic, 1, formerly", "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities" ; + skos:exactMatch UMLS:C5436628 ; biolink:category biolink:Disease . OMIM:619027 a owl:Class ; rdfs:label "spastic paraplegia 83, autosomal recessive" ; IAO:0000142 PMID:32707086, PMID:33970200 ; - oboInOwl:hasDbXref UMLS:C5436637 ; oboInOwl:hasExactSynonym "SPG83", "spastic paraplegia 83, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C5436637 ; biolink:category biolink:Disease . OMIM:619028 a owl:Class ; rdfs:label "coenzyme Q10 deficiency, primary, 9" ; IAO:0000142 PMID:29044765 ; - oboInOwl:hasDbXref UMLS:C5436638, - ORPHA:139485 ; oboInOwl:hasExactSynonym "COQ10D9", "coenzyme Q10 deficiency, primary, 9" ; rdfs:subClassOf OMIMPS:607426 ; + skos:exactMatch UMLS:C5436638, + ORPHA:139485 ; biolink:category biolink:Disease . OMIM:619030 a owl:Class ; @@ -468110,9 +484801,9 @@ OMIM:619030 a owl:Class ; PMID:17878938, PMID:18838377, PMID:20473479 ; - oboInOwl:hasDbXref UMLS:C5436642 ; oboInOwl:hasExactSynonym "SMGMQTL", "skeletal muscle glycogen content and metabolism quantitative trait locus" ; + skos:exactMatch UMLS:C5436642 ; biolink:category biolink:Disease . OMIM:619033 a owl:Class ; @@ -468120,26 +484811,26 @@ OMIM:619033 a owl:Class ; IAO:0000142 PMID:31006510, PMID:31006513, PMID:32553196 ; - oboInOwl:hasDbXref UMLS:C5436647 ; oboInOwl:hasExactSynonym "VIBOS", "vissers-bodmer syndrome" ; + skos:exactMatch UMLS:C5436647 ; biolink:category biolink:Disease . OMIM:619036 a owl:Class ; rdfs:label "myopathy, epilepsy, and progressive cerebral atrophy" ; IAO:0000142 PMID:28733338 ; - oboInOwl:hasDbXref UMLS:C5436652 ; oboInOwl:hasExactSynonym "MEPCA", "myopathy, epilepsy, and progressive cerebral atrophy" ; + skos:exactMatch UMLS:C5436652 ; biolink:category biolink:Disease . OMIM:619040 a owl:Class ; rdfs:label "myofibrillar myopathy 10" ; IAO:0000142 PMID:32779703 ; - oboInOwl:hasDbXref UMLS:C5436656 ; oboInOwl:hasExactSynonym "MFM10", "myofibrillar myopathy 10" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C5436656 ; biolink:category biolink:Disease . OMIM:619042 a owl:Class ; @@ -468148,19 +484839,19 @@ OMIM:619042 a owl:Class ; PMID:22462675, PMID:31985473, PMID:32181591 ; - oboInOwl:hasDbXref UMLS:C5436669 ; oboInOwl:hasExactSynonym "SMAJI", "spinal muscular atrophy, infantile, james iia" ; + skos:exactMatch UMLS:C5436669 ; biolink:category biolink:Disease . OMIM:619044 a owl:Class ; rdfs:label "spermatogenic failure 44" ; IAO:0000142 PMID:31654588 ; - oboInOwl:hasDbXref UMLS:C5436678, - ORPHA:399808 ; oboInOwl:hasExactSynonym "SPGF44", "spermatogenic failure 44" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5436678, + ORPHA:399808 ; biolink:category biolink:Disease . OMIM:619046 a owl:Class ; @@ -468168,33 +484859,33 @@ OMIM:619046 a owl:Class ; IAO:0000142 PMID:10767350, PMID:12928484, PMID:15455402 ; - oboInOwl:hasDbXref UMLS:C5436682, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN3", "mitochondrial complex 4 deficiency, nuclear iia 3" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436682, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619048 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 4" ; IAO:0000142 PMID:11013136, PMID:19295170 ; - oboInOwl:hasDbXref UMLS:C5436683, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN4", "mitochondrial complex 4 deficiency, nuclear iia 4" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436683, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619051 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 7" ; IAO:0000142 PMID:18499082, PMID:24781756 ; - oboInOwl:hasDbXref UMLS:C5436685, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN7", "mitochondrial complex 4 deficiency, nuclear iia 7" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436685, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619052 a owl:Class ; @@ -468202,43 +484893,43 @@ OMIM:619052 a owl:Class ; IAO:0000142 PMID:19503089, PMID:20727754, PMID:25044680 ; - oboInOwl:hasDbXref UMLS:C5436689, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN8", "mitochondrial complex 4 deficiency, nuclear iia 8" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436689, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619053 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 10" ; IAO:0000142 PMID:22243966 ; - oboInOwl:hasDbXref UMLS:C5436692, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN10", "mitochondrial complex 4 deficiency, nuclear iia 10" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436692, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619054 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 11" ; IAO:0000142 PMID:23125284, PMID:24202787 ; - oboInOwl:hasDbXref UMLS:C5436694, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN11", "mitochondrial complex 4 deficiency, nuclear iia 11" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436694, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619055 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 12" ; IAO:0000142 PMID:24462369, PMID:25293719 ; - oboInOwl:hasDbXref UMLS:C5436695, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN12", "mitochondrial complex 4 deficiency, nuclear iia 12" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436695, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619056 a owl:Class ; @@ -468248,162 +484939,162 @@ OMIM:619056 a owl:Class ; PMID:26974950, PMID:29463886, PMID:32346159 ; - oboInOwl:hasDbXref UMLS:C5436699 ; oboInOwl:hasExactSynonym "NEDSID", "neurodevelopmental disorder with speech impairment and dysmorphic facies" ; + skos:exactMatch UMLS:C5436699 ; biolink:category biolink:Disease . OMIM:619057 a owl:Class ; rdfs:label "combined oxidative phosphorylation deficiency 51" ; IAO:0000142 PMID:30607703, PMID:30706245 ; - oboInOwl:hasDbXref UMLS:C5436703 ; oboInOwl:hasExactSynonym "COXPD51", "combined oxidative phosphorylation deficiency 51" ; rdfs:subClassOf OMIMPS:609060 ; + skos:exactMatch UMLS:C5436703 ; biolink:category biolink:Disease . OMIM:619058 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 14" ; IAO:0000142 PMID:25604084 ; - oboInOwl:hasDbXref UMLS:C5436710, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN14", "mitochondrial complex 4 deficiency, nuclear iia 14" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436710, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619059 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 15" ; IAO:0000142 PMID:26685157 ; - oboInOwl:hasDbXref UMLS:C5436712, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN15", "mitochondrial complex 4 deficiency, nuclear iia 15" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436712, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619060 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 16" ; IAO:0000142 PMID:28766551, PMID:31290619 ; - oboInOwl:hasDbXref UMLS:C5436714, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN16", "mitochondrial complex 4 deficiency, nuclear iia 16" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436714, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619061 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 17" ; IAO:0000142 PMID:25175347 ; - oboInOwl:hasDbXref UMLS:C5436718, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN17", "mitochondrial complex 4 deficiency, nuclear iia 17" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436718, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619062 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 18" ; IAO:0000142 PMID:31155743 ; - oboInOwl:hasDbXref UMLS:C5436720, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN18", "mitochondrial complex 4 deficiency, nuclear iia 18" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436720, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619063 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 19" ; IAO:0000142 PMID:28386624 ; - oboInOwl:hasDbXref UMLS:C5436723, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN19", "mitochondrial complex 4 deficiency, nuclear iia 19" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436723, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619064 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 20" ; IAO:0000142 PMID:28247525 ; - oboInOwl:hasDbXref UMLS:C5436726, - ORPHA:254905 ; oboInOwl:hasExactSynonym "MC4DN20", "mitochondrial complex 4 deficiency, nuclear iia 20" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436726, + ORPHA:254905 ; biolink:category biolink:Disease . OMIM:619065 a owl:Class ; rdfs:label "mitochondrial complex 4 deficiency, nuclear iia 21" ; IAO:0000142 PMID:23746447 ; - oboInOwl:hasDbXref UMLS:C5436727, - ORPHA:70472 ; oboInOwl:hasExactSynonym "MC4DN21", "mitochondrial complex 4 deficiency, nuclear iia 21" ; rdfs:subClassOf OMIMPS:220110 ; + skos:exactMatch UMLS:C5436727, + ORPHA:70472 ; biolink:category biolink:Disease . OMIM:619071 a owl:Class ; rdfs:label "leukodystrophy, hypomyelinating, 20" ; IAO:0000142 PMID:12590258, PMID:32128616 ; - oboInOwl:hasDbXref UMLS:C5436730 ; oboInOwl:hasExactSynonym "HLD20", "leukodystrophy, hypomyelinating, 20" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C5436730 ; biolink:category biolink:Disease . OMIM:619072 a owl:Class ; rdfs:label "neurodevelopmental disorder with seizures and brain atrophy" ; IAO:0000142 PMID:32103185 ; - oboInOwl:hasDbXref UMLS:C5436732 ; oboInOwl:hasExactSynonym "NEDSEBA", "neurodevelopmental disorder with seizures and brain atrophy" ; + skos:exactMatch UMLS:C5436732 ; biolink:category biolink:Disease . OMIM:619073 a owl:Class ; rdfs:label "vitamin d-dependent rickets, iia 3" ; IAO:0000142 PMID:29461981 ; - oboInOwl:hasDbXref UMLS:C5436733, - ORPHA:93160 ; oboInOwl:hasExactSynonym "VDDR3", "vitamin d-dependent rickets, iia 3" ; + skos:exactMatch UMLS:C5436733, + ORPHA:93160 ; biolink:category biolink:Disease . OMIM:619074 a owl:Class ; rdfs:label "cleft palate, proliferative retinopathy, and developmental delay" ; IAO:0000142 PMID:30976112 ; - oboInOwl:hasDbXref UMLS:C5436739 ; oboInOwl:hasExactSynonym "CPPRDD", "cleft palate, proliferative retinopathy, and developmental delay" ; + skos:exactMatch UMLS:C5436739 ; biolink:category biolink:Disease . OMIM:619075 a owl:Class ; rdfs:label "bachmann-bupp syndrome" ; IAO:0000142 PMID:30239107, PMID:30475435 ; - oboInOwl:hasDbXref UMLS:C5436741 ; oboInOwl:hasExactSynonym "BABS", "bachmann-bupp syndrome", "neurodevelopmental disorder with alopecia and brain abnormalities" ; + skos:exactMatch UMLS:C5436741 ; biolink:category biolink:Disease . OMIM:619076 a owl:Class ; rdfs:label "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy" ; IAO:0000142 PMID:32103185 ; - oboInOwl:hasDbXref UMLS:C5436747 ; oboInOwl:hasExactSynonym "NEDMISB", "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy" ; + skos:exactMatch UMLS:C5436747 ; biolink:category biolink:Disease . OMIM:619079 a owl:Class ; rdfs:label "inflammatory bowel disease (crohn disease) 30" ; IAO:0000142 PMID:29408806 ; - oboInOwl:hasDbXref UMLS:C5436750 ; oboInOwl:hasExactSynonym "IBD30", "inflammatory bowel disease (crohn disease) 30" ; rdfs:subClassOf OMIMPS:266600 ; + skos:exactMatch UMLS:C5436750 ; biolink:category biolink:Disease . OMIM:619080 a owl:Class ; @@ -468413,37 +485104,37 @@ OMIM:619080 a owl:Class ; PMID:10831596, PMID:30740830, PMID:32754646 ; - oboInOwl:hasDbXref UMLS:C5436756 ; oboInOwl:hasExactSynonym "KILQS", "kilquist syndrome" ; + skos:exactMatch UMLS:C5436756 ; biolink:category biolink:Disease . OMIM:619082 a owl:Class ; rdfs:label "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1" ; IAO:0000142 PMID:16458719, PMID:30945270 ; - oboInOwl:hasDbXref UMLS:C5436769 ; oboInOwl:hasExactSynonym "MRCS1", "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1" ; + skos:exactMatch UMLS:C5436769 ; biolink:category biolink:Disease . OMIM:619086 a owl:Class ; rdfs:label "deafness, autosomal dominant 79" ; IAO:0000142 PMID:31972369 ; - oboInOwl:hasDbXref UMLS:C5436772 ; oboInOwl:hasExactSynonym "DFNA79", "deafness, autosomal dominant 79" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C5436772 ; biolink:category biolink:Disease . OMIM:619087 a owl:Class ; rdfs:label "noonan syndrome 13" ; IAO:0000142 PMID:32721402 ; - oboInOwl:hasDbXref UMLS:C5436773, - ORPHA:648 ; oboInOwl:hasExactSynonym "NS13", "noonan syndrome 13" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C5436773, + ORPHA:648 ; biolink:category biolink:Disease . OMIM:619090 a owl:Class ; @@ -468459,39 +485150,39 @@ OMIM:619090 a owl:Class ; OMIM:619092 a owl:Class ; rdfs:label "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities" ; IAO:0000142 PMID:32738225 ; - oboInOwl:hasDbXref UMLS:C5436788 ; oboInOwl:hasExactSynonym "NEDMILEG", "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities" ; + skos:exactMatch UMLS:C5436788 ; biolink:category biolink:Disease . OMIM:619093 a owl:Class ; rdfs:label "deafness, autosomal recessive 116" ; IAO:0000142 PMID:31175426 ; - oboInOwl:hasDbXref UMLS:C5436789 ; oboInOwl:hasExactSynonym "DFNB116", "deafness, autosomal recessive 116" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C5436789 ; biolink:category biolink:Disease . OMIM:619094 a owl:Class ; rdfs:label "spermatogenic failure 45" ; IAO:0000142 PMID:30811583 ; - oboInOwl:hasDbXref UMLS:C5436791, - ORPHA:399808 ; oboInOwl:hasExactSynonym "SPGF45", "spermatogenic failure 45" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5436791, + ORPHA:399808 ; biolink:category biolink:Disease . OMIM:619095 a owl:Class ; rdfs:label "spermatogenic failure 46" ; IAO:0000142 PMID:32619401, PMID:32681648 ; - oboInOwl:hasDbXref UMLS:C5436799, - ORPHA:399808 ; oboInOwl:hasExactSynonym "SPGF46", "spermatogenic failure 46" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5436799, + ORPHA:399808 ; biolink:category biolink:Disease . OMIM:619099 a owl:Class ; @@ -468499,10 +485190,10 @@ OMIM:619099 a owl:Class ; IAO:0000142 PMID:27431290, PMID:32934225, PMID:33048237 ; - oboInOwl:hasDbXref UMLS:C5436813, - ORPHA:528084 ; oboInOwl:hasExactSynonym "IDDSAPN", "intellectual developmental disorder with speech delay and axonal peripheral neuropathy" ; + skos:exactMatch UMLS:C5436813, + ORPHA:528084 ; biolink:category biolink:Disease . OMIM:619101 a owl:Class ; @@ -468521,135 +485212,135 @@ OMIM:619101 a owl:Class ; PMID:22692065, PMID:25691505, PMID:7661930 ; - oboInOwl:hasDbXref UMLS:C5436817, - ORPHA:252202 ; oboInOwl:hasExactSynonym "MMRCS4", "mismatch repair cancer syndrome 4" ; rdfs:subClassOf OMIMPS:276300 ; + skos:exactMatch UMLS:C5436817, + ORPHA:252202 ; biolink:category biolink:Disease . OMIM:619102 a owl:Class ; rdfs:label "spermatogenic failure 47" ; IAO:0000142 PMID:32051257 ; - oboInOwl:hasDbXref UMLS:C5436818, - ORPHA:399808 ; oboInOwl:hasExactSynonym "SPGF47", "spermatogenic failure 47" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5436818, + ORPHA:399808 ; biolink:category biolink:Disease . OMIM:619103 a owl:Class ; rdfs:label "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities" ; IAO:0000142 PMID:32822602 ; - oboInOwl:hasDbXref UMLS:C5436821 ; oboInOwl:hasExactSynonym "NEDFASB", "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities" ; + skos:exactMatch UMLS:C5436821 ; biolink:category biolink:Disease . OMIM:619108 a owl:Class ; rdfs:label "spermatogenic failure 48" ; IAO:0000142 PMID:32017041, PMID:32673564 ; - oboInOwl:hasDbXref UMLS:C5436823, - ORPHA:399805 ; oboInOwl:hasExactSynonym "SPGF48", "spermatogenic failure 48" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5436823, + ORPHA:399805 ; biolink:category biolink:Disease . OMIM:619110 a owl:Class ; rdfs:label "arthrogryposis, distal, iia 1c" ; IAO:0000142 PMID:32707087 ; - oboInOwl:hasDbXref UMLS:C5436834, - ORPHA:1146 ; oboInOwl:hasExactSynonym "DA1C", "arthrogryposis, distal, iia 1c" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C5436834, + ORPHA:1146 ; biolink:category biolink:Disease . OMIM:619121 a owl:Class ; rdfs:label "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities" ; IAO:0000142 PMID:33015733 ; - oboInOwl:hasDbXref UMLS:C5436848 ; oboInOwl:hasExactSynonym "NEDCASB", "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities" ; + skos:exactMatch UMLS:C5436848 ; biolink:category biolink:Disease . OMIM:619122 a owl:Class ; rdfs:label "vertebral hypersegmentation and orofacial anomalies" ; IAO:0000142 PMID:31215115 ; - oboInOwl:hasDbXref UMLS:C5436851 ; oboInOwl:hasExactSynonym "VHO", "vertebral hypersegmentation and orofacial anomalies" ; + skos:exactMatch UMLS:C5436851 ; biolink:category biolink:Disease . OMIM:619123 a owl:Class ; rdfs:label "cardiofacioneurodevelopmental syndrome" ; IAO:0000142 PMID:32307552 ; - oboInOwl:hasDbXref UMLS:C5436852 ; oboInOwl:hasExactSynonym "CFNDS", "cardiofacioneurodevelopmental syndrome" ; + skos:exactMatch UMLS:C5436852 ; biolink:category biolink:Disease . OMIM:619124 a owl:Class ; rdfs:label "developmental and epileptic encephalopathy 89" ; IAO:0000142 PMID:32282878, PMID:9177246 ; - oboInOwl:hasDbXref UMLS:C5436853, - ORPHA:442835 ; oboInOwl:hasExactSynonym "DEE89", "developmental and epileptic encephalopathy 89" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C5436853, + ORPHA:442835 ; biolink:category biolink:Disease . OMIM:619125 a owl:Class ; rdfs:label "kaya-barakat-masson syndrome" ; IAO:0000142 PMID:32006098, PMID:33103737 ; - oboInOwl:hasDbXref UMLS:C5436856 ; oboInOwl:hasExactSynonym "KABAMAS", "kaya-barakat-masson syndrome" ; + skos:exactMatch UMLS:C5436856 ; biolink:category biolink:Disease . OMIM:619127 a owl:Class ; rdfs:label "mandibuloacral dysplasia progeroid syndrome" ; IAO:0000142 PMID:32917887 ; - oboInOwl:hasDbXref UMLS:C5436867 ; oboInOwl:hasExactSynonym "MDPS", "mandibuloacral dysplasia progeroid syndrome" ; + skos:exactMatch UMLS:C5436867 ; biolink:category biolink:Disease . OMIM:619130 a owl:Class ; rdfs:label "thrombocytopenia 7" ; IAO:0000142 PMID:31217188, PMID:32419556 ; - oboInOwl:hasDbXref UMLS:C5436874, - ORPHA:466806 ; oboInOwl:hasExactSynonym "THC7", "thrombocytopenia 7", "thrombocytopenia, autosomal dominant, 7" ; rdfs:subClassOf OMIMPS:313900 ; + skos:exactMatch UMLS:C5436874, + ORPHA:466806 ; biolink:category biolink:Disease . OMIM:619131 a owl:Class ; rdfs:label "osteogenesis imperfecta, iia 21" ; IAO:0000142 PMID:33053334, PMID:33964184 ; - oboInOwl:hasDbXref UMLS:C5436875, - ORPHA:666 ; oboInOwl:hasExactSynonym "OI21", "osteogenesis imperfecta, iia 21" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C5436875, + ORPHA:666 ; biolink:category biolink:Disease . OMIM:619135 a owl:Class ; rdfs:label "ritscher-schinzel syndrome 3" ; IAO:0000142 PMID:31712251 ; - oboInOwl:hasDbXref UMLS:C5436883, - ORPHA:7 ; oboInOwl:hasExactSynonym "RTSC3", "ritscher-schinzel syndrome 3" ; rdfs:subClassOf OMIMPS:220210 ; + skos:exactMatch UMLS:C5436883, + ORPHA:7 ; biolink:category biolink:Disease . OMIM:619141 a owl:Class ; @@ -468664,31 +485355,31 @@ OMIM:619141 a owl:Class ; OMIM:619143 a owl:Class ; rdfs:label "cardioacrofacial dysplasia 2" ; IAO:0000142 PMID:33058759 ; - oboInOwl:hasDbXref UMLS:C5436886 ; oboInOwl:hasExactSynonym "CAFD2", "cardioacrofacial dysplasia 2" ; rdfs:subClassOf OMIMPS:619142 ; + skos:exactMatch UMLS:C5436886 ; biolink:category biolink:Disease . OMIM:619144 a owl:Class ; rdfs:label "spermatogenic failure 49" ; IAO:0000142 PMID:32791035 ; - oboInOwl:hasDbXref UMLS:C5436887, - ORPHA:399808 ; oboInOwl:hasExactSynonym "SPGF49", "spermatogenic failure 49" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5436887, + ORPHA:399808 ; biolink:category biolink:Disease . OMIM:619145 a owl:Class ; rdfs:label "spermatogenic failure 50" ; IAO:0000142 PMID:30042186, PMID:30489636 ; - oboInOwl:hasDbXref UMLS:C5436888, - ORPHA:399808 ; oboInOwl:hasExactSynonym "SPGF50", "spermatogenic failure 50" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C5436888, + ORPHA:399808 ; biolink:category biolink:Disease . OMIM:619147 a owl:Class ; @@ -470549,6 +487240,13 @@ OMIM:619810 a owl:Class ; rdfs:subClassOf OMIMPS:124900 ; biolink:category biolink:Disease . +OMIM:619812 a owl:Class ; + rdfs:label "blood group, emm system" ; + oboInOwl:hasExactSynonym "EMM", + "blood group, emm system", + "emm-null phenotype" ; + biolink:category biolink:Disease . + OMIM:619813 a owl:Class ; rdfs:label "neutropenia, severe congenital, 9, autosomal dominant" ; oboInOwl:hasExactSynonym "SCN9", @@ -470562,6 +487260,13 @@ OMIM:619817 a owl:Class ; "epidermolysis bullosa, junctional 6, with pyloric atresia" ; biolink:category biolink:Disease . +OMIM:619824 a owl:Class ; + rdfs:label "agammaglobulinemia 8b, autosomal recessive" ; + oboInOwl:hasExactSynonym "AGM8B", + "agammaglobulinemia 8b, autosomal recessive", + "agammaglobulinemia, autosomal recessive, due to tcf3 defect" ; + biolink:category biolink:Disease . + OMIM:619825 a owl:Class ; rdfs:label "aortic aneurysm, familial thoracic 12" ; oboInOwl:hasExactSynonym "AAT12", @@ -470589,6 +487294,602 @@ OMIM:619831 a owl:Class ; "spermatogenic failure 71" ; biolink:category biolink:Disease . +OMIMPS:101800 a owl:Class ; + rdfs:label "Acrodysostosis" ; + biolink:category biolink:Disease . + +OMIMPS:104290 a owl:Class ; + rdfs:label "Alternating hemiplegia of childhood" ; + biolink:category biolink:Disease . + +OMIMPS:107480 a owl:Class ; + rdfs:label "Townes-Brocks syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:112240 a owl:Class ; + rdfs:label "Cole-Carpenter syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:113700 a owl:Class ; + rdfs:label "Breasts and/or nipples, aplasia or hypoplasia of" ; + biolink:category biolink:Disease . + +OMIMPS:115430 a owl:Class ; + rdfs:label "Carpal tunnel syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:118450 a owl:Class ; + rdfs:label "Alagille syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:119580 a owl:Class ; + rdfs:label "Blepharocheilodontic syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:121400 a owl:Class ; + rdfs:label "Cornea plana" ; + biolink:category biolink:Disease . + +OMIMPS:122100 a owl:Class ; + rdfs:label "Corneal dystrophy, Meesmann" ; + biolink:category biolink:Disease . + +OMIMPS:123000 a owl:Class ; + rdfs:label "Craniometaphyseal dysplasia" ; + biolink:category biolink:Disease . + +OMIMPS:127000 a owl:Class ; + rdfs:label "Kenny-Caffey syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:128200 a owl:Class ; + rdfs:label "Episodic kinesigenic dyskinesia" ; + biolink:category biolink:Disease . + +OMIMPS:136520 a owl:Class ; + rdfs:label "Foveal hypoplasia" ; + biolink:category biolink:Disease . + +OMIMPS:137950 a owl:Class ; + rdfs:label "Glomerulopathy with fibronectin deposits" ; + biolink:category biolink:Disease . + +OMIMPS:142700 a owl:Class ; + rdfs:label "Developmental dysplasia of the hip" ; + biolink:category biolink:Disease . + +OMIMPS:143880 a owl:Class ; + rdfs:label "Hypercalcemia, infantile" ; + biolink:category biolink:Disease . + +OMIMPS:145420 a owl:Class ; + rdfs:label "Teebi hypertelorism syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:146200 a owl:Class ; + rdfs:label "Hypoparathyroidism, familial" ; + biolink:category biolink:Disease . + +OMIMPS:147920 a owl:Class ; + rdfs:label "Kabuki syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:148210 a owl:Class ; + rdfs:label "Keratitis-ichthyosis-deafness syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:151623 a owl:Class ; + rdfs:label "Li-Fraumeni syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:153600 a owl:Class ; + rdfs:label "Macroglobulinemia, Waldenstrom" ; + biolink:category biolink:Disease . + +OMIMPS:156610 a owl:Class ; + rdfs:label "Skin creases, congenital symmetric circumferential" ; + biolink:category biolink:Disease . + +OMIMPS:158810 a owl:Class ; + rdfs:label "Bethlem myopathy" ; + biolink:category biolink:Disease . + +OMIMPS:160565 a owl:Class ; + rdfs:label "Myopathy, tubular aggregate" ; + biolink:category biolink:Disease . + +OMIMPS:160900 a owl:Class ; + rdfs:label "Myotonic dystrophy" ; + biolink:category biolink:Disease . + +OMIMPS:162091 a owl:Class ; + rdfs:label "Schwannomatosis" ; + biolink:category biolink:Disease . + +OMIMPS:164280 a owl:Class ; + rdfs:label "Feingold syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:166780 a owl:Class ; + rdfs:label "Otofaciocervical syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:176400 a owl:Class ; + rdfs:label "Precocious puberty, central" ; + biolink:category biolink:Disease . + +OMIMPS:178110 a owl:Class ; + rdfs:label "Contractures, pterygia, and variable skeletal fusions syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:182250 a owl:Class ; + rdfs:label "Singleton-Merten syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:184260 a owl:Class ; + rdfs:label "Odontochondrodysplasia" ; + biolink:category biolink:Disease . + +OMIMPS:184840 a owl:Class ; + rdfs:label "Otospondylomegaepiphyseal dysplasia" ; + biolink:category biolink:Disease . + +OMIMPS:185800 a owl:Class ; + rdfs:label "Proximal symphalangism" ; + biolink:category biolink:Disease . + +OMIMPS:190440 a owl:Class ; + rdfs:label "Trigonocephaly, isolated" ; + biolink:category biolink:Disease . + +OMIMPS:191100 a owl:Class ; + rdfs:label "Tuberous sclerosis" ; + biolink:category biolink:Disease . + +OMIMPS:193670 a owl:Class ; + rdfs:label "WHIM syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:193900 a owl:Class ; + rdfs:label "White sponge nevus" ; + biolink:category biolink:Disease . + +OMIMPS:201000 a owl:Class ; + rdfs:label "Carpenter syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:206100 a owl:Class ; + rdfs:label "Anemia, hypochromic microcytic, with iron overload" ; + biolink:category biolink:Disease . + +OMIMPS:206500 a owl:Class ; + rdfs:label "Anencephaly" ; + biolink:category biolink:Disease . + +OMIMPS:208000 a owl:Class ; + rdfs:label "Generalized arterial calcification of infancy" ; + biolink:category biolink:Disease . + +OMIMPS:208085 a owl:Class ; + rdfs:label "Arthrogryposis, renal dysfunction, and cholestasis" ; + biolink:category biolink:Disease . + +OMIMPS:208540 a owl:Class ; + rdfs:label "Renal-hepatic-pancreatic dysplasia" ; + biolink:category biolink:Disease . + +OMIMPS:210200 a owl:Class ; + rdfs:label "Methylcrotonylglycinuria" ; + biolink:category biolink:Disease . + +OMIMPS:210250 a owl:Class ; + rdfs:label "Sitosterolemia" ; + biolink:category biolink:Disease . + +OMIMPS:210900 a owl:Class ; + rdfs:label "Microcephaly, growth restriction and increased sister chromatid exchange" ; + biolink:category biolink:Disease . + +OMIMPS:211530 a owl:Class ; + rdfs:label "Brown-Vialetto-Van Laere syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:212720 a owl:Class ; + rdfs:label "Martsolf syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:220400 a owl:Class ; + rdfs:label "Jervell and Lange-Nielsen syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:221770 a owl:Class ; + rdfs:label "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" ; + biolink:category biolink:Disease . + +OMIMPS:221820 a owl:Class ; + rdfs:label "Leukoencephalopathy, hereditary diffuse, with spheroids" ; + biolink:category biolink:Disease . + +OMIMPS:221900 a owl:Class ; + rdfs:label "Persistent hyperplastic primary vitreous" ; + biolink:category biolink:Disease . + +OMIMPS:222470 a owl:Class ; + rdfs:label "Trichohepatoenteric syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:223360 a owl:Class ; + rdfs:label "Orthostatic hypotension" ; + biolink:category biolink:Disease . + +OMIMPS:228520 a owl:Class ; + rdfs:label "Fibrochondrogenesis" ; + biolink:category biolink:Disease . + +OMIMPS:228550 a owl:Class ; + rdfs:label "Infantile myofibromatosis" ; + biolink:category biolink:Disease . + +OMIMPS:229200 a owl:Class ; + rdfs:label "Brittle cornea syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:236680 a owl:Class ; + rdfs:label "Hydrolethalus syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:236730 a owl:Class ; + rdfs:label "Urofacial syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:241550 a owl:Class ; + rdfs:label "Hypoplastic left heart syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:243150 a owl:Class ; + rdfs:label "Gastrointestinal defect and immunodeficiency syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:243300 a owl:Class ; + rdfs:label "Cholestasis, benign recurrent intrahepatic" ; + biolink:category biolink:Disease . + +OMIMPS:243310 a owl:Class ; + rdfs:label "Baraitser-Winter syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:245480 a owl:Class ; + rdfs:label "Specific granule deficiency" ; + biolink:category biolink:Disease . + +OMIMPS:245590 a owl:Class ; + rdfs:label "Growth hormone insensitivity syndrome with immune dysregulation" ; + biolink:category biolink:Disease . + +OMIMPS:248370 a owl:Class ; + rdfs:label "Mandibuloacral dysplasia with lipodystrophy" ; + biolink:category biolink:Disease . + +OMIMPS:251280 a owl:Class ; + rdfs:label "Diencephalic-mesencephalic junction dysplasia syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:251450 a owl:Class ; + rdfs:label "Desbuquois dysplasia" ; + biolink:category biolink:Disease . + +OMIMPS:252270 a owl:Class ; + rdfs:label "Monosomy 7 myelodysplasia and leukemia syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:254090 a owl:Class ; + rdfs:label "Ullrich congenital muscular dystrophy" ; + biolink:category biolink:Disease . + +OMIMPS:256520 a owl:Class ; + rdfs:label "Neu-Laxova syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:256850 a owl:Class ; + rdfs:label "Giant axonal neuropathy" ; + biolink:category biolink:Disease . + +OMIMPS:258315 a owl:Class ; + rdfs:label "Omodysplasia" ; + biolink:category biolink:Disease . + +OMIMPS:260370 a owl:Class ; + rdfs:label "Pancreatic agenesis" ; + biolink:category biolink:Disease . + +OMIMPS:260400 a owl:Class ; + rdfs:label "Schwachman-Diamond syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:261100 a owl:Class ; + rdfs:label "Imerslund-Grasbeck syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:265450 a owl:Class ; + rdfs:label "Pulmonary venoocclusive disease" ; + biolink:category biolink:Disease . + +OMIMPS:268400 a owl:Class ; + rdfs:label "Rothmund-Thomson syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:269500 a owl:Class ; + rdfs:label "Sclerosteosis" ; + biolink:category biolink:Disease . + +OMIMPS:271930 a owl:Class ; + rdfs:label "Striatonigral degeneration" ; + biolink:category biolink:Disease . + +OMIMPS:273800 a owl:Class ; + rdfs:label "Glanzmann thrombasthenia" ; + biolink:category biolink:Disease . + +OMIMPS:275210 a owl:Class ; + rdfs:label "Restrictive dermopathy" ; + biolink:category biolink:Disease . + +OMIMPS:277180 a owl:Class ; + rdfs:label "Vas deferens, congenital bilateral aplasia of" ; + biolink:category biolink:Disease . + +OMIMPS:277450 a owl:Class ; + rdfs:label "Vitamin K-dependent clotting factors, combined deficiency of" ; + biolink:category biolink:Disease . + +OMIMPS:278300 a owl:Class ; + rdfs:label "Xanthinuria" ; + biolink:category biolink:Disease . + +OMIMPS:300009 a owl:Class ; + rdfs:label "Dent disease" ; + biolink:category biolink:Disease . + +OMIMPS:300291 a owl:Class ; + rdfs:label "Ectodermal dysplasia and immune deficiency" ; + biolink:category biolink:Disease . + +OMIMPS:300818 a owl:Class ; + rdfs:label "Paroxysmal nocturnal hemoglobinuria" ; + biolink:category biolink:Disease . + +OMIMPS:305620 a owl:Class ; + rdfs:label "Frontometaphyseal dysplasia" ; + biolink:category biolink:Disease . + +OMIMPS:308205 a owl:Class ; + rdfs:label "IFAP syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:314580 a owl:Class ; + rdfs:label "Wieacker-Wolff syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:400043 a owl:Class ; + rdfs:label "Deafness, Y-linked" ; + biolink:category biolink:Disease . + +OMIMPS:600462 a owl:Class ; + rdfs:label "Myopathy, lactic acidosis, and sideroblastic anemia" ; + biolink:category biolink:Disease . + +OMIMPS:600721 a owl:Class ; + rdfs:label "D-2-hydroxyglutaric aciduria" ; + biolink:category biolink:Disease . + +OMIMPS:601198 a owl:Class ; + rdfs:label "Hypocalcemia" ; + biolink:category biolink:Disease . + +OMIMPS:601228 a owl:Class ; + rdfs:label "Polyposis syndrome, hereditary mixed" ; + biolink:category biolink:Disease . + +OMIMPS:601390 a owl:Class ; + rdfs:label "Van Maldergem syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:601559 a owl:Class ; + rdfs:label "Stuve-Wiedemann syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:604391 a owl:Class ; + rdfs:label "Ataxia-telangiectasia-like disorder" ; + biolink:category biolink:Disease . + +OMIMPS:604931 a owl:Class ; + rdfs:label "Cortisone reductase deficiency" ; + biolink:category biolink:Disease . + +OMIMPS:605432 a owl:Class ; + rdfs:label "Radioulnar synostosis with amegakaryocytic thrombocytopenia" ; + biolink:category biolink:Disease . + +OMIMPS:606703 a owl:Class ; + rdfs:label "Dyskinesia with orofacial involvement" ; + biolink:category biolink:Disease . + +OMIMPS:606777 a owl:Class ; + rdfs:label "Glut1 deficiency syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:607313 a owl:Class ; + rdfs:label "Gaze palsy, familial horizontal, with progressive scoliosis" ; + biolink:category biolink:Disease . + +OMIMPS:607326 a owl:Class ; + rdfs:label "Smith-McCort dysplasia" ; + biolink:category biolink:Disease . + +OMIMPS:607631 a owl:Class ; + rdfs:label "Epilepsy, juvenile absence" ; + biolink:category biolink:Disease . + +OMIMPS:607721 a owl:Class ; + rdfs:label "Noonan syndrome-like disorder with loose anagen hair" ; + biolink:category biolink:Disease . + +OMIMPS:607748 a owl:Class ; + rdfs:label "Hypercholanemia, familial" ; + biolink:category biolink:Disease . + +OMIMPS:608354 a owl:Class ; + rdfs:label "Capillary malformation-arteriovenous malformation" ; + biolink:category biolink:Disease . + +OMIMPS:608805 a owl:Class ; + rdfs:label "Avascular necrosis of femoral head, primary" ; + biolink:category biolink:Disease . + +OMIMPS:609161 a owl:Class ; + rdfs:label "Striatal degeneration, autosomal dominant" ; + biolink:category biolink:Disease . + +OMIMPS:609322 a owl:Class ; + rdfs:label "Rhabdoid tumor predisposition syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:610253 a owl:Class ; + rdfs:label "Kleefstra syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:610448 a owl:Class ; + rdfs:label "Chilblain lupus" ; + biolink:category biolink:Disease . + +OMIMPS:610460 a owl:Class ; + rdfs:label "Thiopurines, poor metabolism of" ; + biolink:category biolink:Disease . + +OMIMPS:612199 a owl:Class ; + rdfs:label "Cerebroretinal microangiopathy with calcfications and cysts" ; + biolink:category biolink:Disease . + +OMIMPS:612286 a owl:Class ; + rdfs:label "Nephrolithiasis/osteoporosis, hypophosphatemic" ; + biolink:category biolink:Disease . + +OMIMPS:612900 a owl:Class ; + rdfs:label "Spastic quadriplegic cerebral palsy" ; + biolink:category biolink:Disease . + +OMIMPS:612975 a owl:Class ; + rdfs:label "Short sleep, familial natural" ; + biolink:category biolink:Disease . + +OMIMPS:613280 a owl:Class ; + rdfs:label "Hypermanganesemia with dystonia" ; + biolink:category biolink:Disease . + +OMIMPS:613339 a owl:Class ; + rdfs:label "Hot water epilepsy" ; + biolink:category biolink:Disease . + +OMIMPS:613573 a owl:Class ; + rdfs:label "Ectodermal dysplasia-syndactyly syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:613658 a owl:Class ; + rdfs:label "Rajab interstitial lung disease with brain calcifications" ; + biolink:category biolink:Disease . + +OMIMPS:614231 a owl:Class ; + rdfs:label "Microcephaly, epilepsy, and diabetes syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:614328 a owl:Class ; + rdfs:label "Neonatal inflammatory skin and bowel disease" ; + biolink:category biolink:Disease . + +OMIMPS:614388 a owl:Class ; + rdfs:label "Encephalopathy due to defective mitochondrial and peroxisomal fission" ; + biolink:category biolink:Disease . + +OMIMPS:614937 a owl:Class ; + rdfs:label "Myoclonus, familial" ; + biolink:category biolink:Disease . + +OMIMPS:615273 a owl:Class ; + rdfs:label "Congenital disorder of deglycosylation" ; + biolink:category biolink:Disease . + +OMIMPS:615895 a owl:Class ; + rdfs:label "Polyglucosan body myopathy" ; + biolink:category biolink:Disease . + +OMIMPS:615952 a owl:Class ; + rdfs:label "Autoimmune disease, multisystem, infantile-onset" ; + biolink:category biolink:Disease . + +OMIMPS:616263 a owl:Class ; + rdfs:label "Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" ; + biolink:category biolink:Disease . + +OMIMPS:616418 a owl:Class ; + rdfs:label "Hypomagnesemia, seizures, and mental retardation" ; + biolink:category biolink:Disease . + +OMIMPS:616744 a owl:Class ; + rdfs:label "Autoinflammatory syndrome, familial, Behcet-like" ; + biolink:category biolink:Disease . + +OMIMPS:616814 a owl:Class ; + rdfs:label "Preimplantation embryonic lethality" ; + biolink:category biolink:Disease . + +OMIMPS:616866 a owl:Class ; + rdfs:label "Spinal muscular atrophy with congenital bone fractures" ; + biolink:category biolink:Disease . + +OMIMPS:617068 a owl:Class ; + rdfs:label "Portal hypertension, noncirrhotic" ; + biolink:category biolink:Disease . + +OMIMPS:617186 a owl:Class ; + rdfs:label "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" ; + biolink:category biolink:Disease . + +OMIMPS:617236 a owl:Class ; + rdfs:label "Cone-rod dystrophy and hearing loss" ; + biolink:category biolink:Disease . + +OMIMPS:617877 a owl:Class ; + rdfs:label "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" ; + biolink:category biolink:Disease . + +OMIMPS:618005 a owl:Class ; + rdfs:label "Congenital disorder of glycosylation with defective fucosylation" ; + biolink:category biolink:Disease . + +OMIMPS:618332 a owl:Class ; + rdfs:label "Menke-Hennekam syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:619115 a owl:Class ; + rdfs:label "Combined osteogenesis imperfecta and Ehlers-Danlos syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:619142 a owl:Class ; + rdfs:label "Cardioacrofacial dysplasia" ; + biolink:category biolink:Disease . + +OMIMPS:619611 a owl:Class ; + rdfs:label "Interstitial lung disease" ; + biolink:category biolink:Disease . + +OMIMPS:619720 a owl:Class ; + rdfs:label "Bryant-Li-Bhoj neurodevelopmental syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:619758 a owl:Class ; + rdfs:label "Tessadori-Van-Haaften neurodevelopmental syndrome" ; + biolink:category biolink:Disease . + OMIM:100070 a owl:Class ; rdfs:label "aortic aneurysm, familial abdominal, 1" ; IAO:0000142 PMID:10558909, @@ -470624,13 +487925,13 @@ OMIM:100070 a owl:Class ; PMID:8455684, PMID:9786252 ; RO:0002525 CHR:9606chr19q13 ; - oboInOwl:hasDbXref UMLS:C0162871, - UMLS:C1853365 ; oboInOwl:hasExactSynonym "AAA1", "abdominal aortic aneurysm", "aneurysm, abdominal aortic", "aortic aneurysm, familial abdominal, 1" ; rdfs:subClassOf OMIMPS:100070 ; + skos:exactMatch UMLS:C0162871, + UMLS:C1853365 ; biolink:category biolink:Disease . OMIM:100300 a owl:Class ; @@ -470675,8 +487976,6 @@ OMIM:100300 a owl:Class ; PMID:9385961, PMID:9823488, PMID:9916843 ; - oboInOwl:hasDbXref UMLS:C1970140, - UMLS:C4551482 ; oboInOwl:hasExactSynonym "AOS1", "absence defect of limbs, scalp, and skull", "adams-oliver syndrome 1", @@ -470685,6 +487984,8 @@ OMIM:100300 a owl:Class ; "aplasia cutis congenita, congenital heart defect, and frontonasal cysts", "congenital scalp defects with distal limb reduction anomalies" ; rdfs:subClassOf OMIMPS:100300 ; + skos:exactMatch UMLS:C1970140, + UMLS:C4551482 ; biolink:category biolink:Disease . OMIM:100880 a owl:Class ; @@ -470707,7 +488008,6 @@ OMIM:100880 a owl:Class ; PMID:6297853, PMID:7140357, PMID:7774911 ; - oboInOwl:hasDbXref UMLS:C1412126 ; oboInOwl:hasExactSynonym "ACO1", "aconitase 1, soluble", "aconitase, soluble", @@ -470717,7 +488017,9 @@ OMIM:100880 a owl:Class ; "iron-responsive element-binding protein 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:48 ; - skos:exactMatch HGNC_symbol:ACO1 ; + skos:exactMatch UMLS:C1412126, + HGNC:117, + HGNC_symbol:ACO1 ; biolink:category biolink:Gene . OMIM:102200 a owl:Class ; @@ -470756,10 +488058,6 @@ OMIM:102200 a owl:Class ; PMID:9141543, PMID:9177361, PMID:9920092 ; - oboInOwl:hasDbXref UMLS:C1863340, - UMLS:C2676191, - UMLS:C3489630, - UMLS:C4538355 ; oboInOwl:hasExactSynonym "PITA1", "acromegaly due to pituitary adenoma 1", "isolated familial somatotropinoma", @@ -470770,6 +488068,10 @@ OMIM:102200 a owl:Class ; "somatotrophinoma, familial", "somatotropinoma, familial isolated" ; rdfs:subClassOf OMIMPS:102200 ; + skos:exactMatch UMLS:C1863340, + UMLS:C2676191, + UMLS:C3489630, + UMLS:C4538355 ; biolink:category biolink:Disease . OMIM:102500 a owl:Class ; @@ -470803,14 +488105,14 @@ OMIM:102500 a owl:Class ; PMID:9220203, PMID:959555, PMID:9714016 ; - oboInOwl:hasDbXref UMLS:C0917715, - UMLS:C1838257 ; oboInOwl:hasExactSynonym "HJCYS", "acroosteolysis with osteoporosis and changes 1n skull and mandible", "arthrodentoosteodysplasia", "cheney syndrome", "hajdu-cheney syndrome", "serpentine fibula-polycystic kidney syndrome" ; + skos:exactMatch UMLS:C0917715, + UMLS:C1838257 ; biolink:category biolink:Disease . OMIM:102630 a owl:Class ; @@ -470845,14 +488147,15 @@ OMIM:102630 a owl:Class ; PMID:8941379 ; RO:0002525 CHR:9606chr7p22.1 ; RO:0003303 OMIM:243310 ; - oboInOwl:hasDbXref UMLS:C1384510 ; oboInOwl:hasExactSynonym "ACTB", "actin, beta", "actin, cytoplasmic, 1", "beta-actin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:60 ; - skos:exactMatch HGNC_symbol:ACTB ; + skos:exactMatch UMLS:C1384510, + HGNC:132, + HGNC_symbol:ACTB ; biolink:category biolink:Gene . OMIM:103580 a owl:Class ; @@ -470934,11 +488237,11 @@ OMIM:103580 a owl:Class ; PMID:8989268, PMID:931429, PMID:9671744 ; - oboInOwl:hasDbXref UMLS:C3494506 ; oboInOwl:hasExactSynonym "PHP1A", "albright hereditary osteodystrophy with multiple hormone resistance", "php 1a", "pseudohypoparathyroidism, iia 1a" ; + skos:exactMatch UMLS:C3494506 ; biolink:category biolink:Disease . OMIM:105550 a owl:Class ; @@ -470999,8 +488302,6 @@ OMIM:105550 a owl:Class ; PMID:32733193, PMID:32814898, PMID:4769153 ; - oboInOwl:hasDbXref UMLS:C3888102, - ORPHA:275872 ; oboInOwl:hasExactSynonym "FTDALS1", "amyotrophic lateral sclerosis and/or frontotemporal dementia", "frontotemporal dementia and/or amyotrophic lateral sclerosis", @@ -471008,6 +488309,8 @@ OMIM:105550 a owl:Class ; "frontotemporal dementia and/or motor neuron disease" ; rdfs:subClassOf OMIMPS:105400, OMIMPS:105550 ; + skos:exactMatch UMLS:C3888102, + ORPHA:275872 ; biolink:category biolink:Disease . OMIM:106600 a owl:Class ; @@ -471020,9 +488323,6 @@ OMIM:106600 a owl:Class ; PMID:22581971, PMID:27321946, PMID:8696335 ; - oboInOwl:hasDbXref UMLS:C1970117, - UMLS:C1970118, - UMLS:C3489529 ; oboInOwl:hasExactSynonym "STHAG1", "hypodontia/oligodontia 1", "hypodontia/oligodontia with orofacial cleft", @@ -471031,6 +488331,9 @@ OMIM:106600 a owl:Class ; "tooth agenesis, selective, 1", "tooth agenesis, selective, with orofacial cleft" ; rdfs:subClassOf OMIMPS:106600 ; + skos:exactMatch UMLS:C1970117, + UMLS:C1970118, + UMLS:C3489529 ; biolink:category biolink:Disease . OMIM:107250 a owl:Class ; @@ -471045,13 +488348,13 @@ OMIM:107250 a owl:Class ; PMID:6801987, PMID:6978612, PMID:9620774 ; - oboInOwl:hasDbXref UMLS:C1862839, - UMLS:C4551992 ; oboInOwl:hasExactSynonym "ASGD1", "anterior segment dysgenesis 1", "anterior segment mesenchymal dysgenesis", "anterior segment ocular dysgenesis" ; rdfs:subClassOf OMIMPS:107250 ; + skos:exactMatch UMLS:C1862839, + UMLS:C4551992 ; biolink:category biolink:Disease . OMIM:107600 a owl:Class ; @@ -471080,11 +488383,11 @@ OMIM:107600 a owl:Class ; PMID:862297, PMID:9415483, PMID:9678709 ; - oboInOwl:hasDbXref UMLS:C0282160 ; oboInOwl:hasExactSynonym "ACC", "aplasia cutis congenita, nonsyndromic", "congenital defect of skull and scalp", "scalp defect, congenital" ; + skos:exactMatch UMLS:C0282160 ; biolink:category biolink:Disease . OMIM:109150 a owl:Class ; @@ -471203,7 +488506,6 @@ OMIM:109150 a owl:Class ; PMID:9778239, PMID:9779665, PMID:9825593 ; - oboInOwl:hasDbXref UMLS:C0024408 ; oboInOwl:hasExactSynonym "MJD", "azorean neurologic disease", "machado-joseph disease", @@ -471212,6 +488514,7 @@ OMIM:109150 a owl:Class ; "spinocerebellar atrophy 3", "spinopontine atrophy" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C0024408 ; biolink:category biolink:Disease . OMIM:111400 a owl:Class ; @@ -471248,7 +488551,6 @@ OMIM:111400 a owl:Class ; PMID:7795329, PMID:8719549, PMID:9920164 ; - oboInOwl:hasDbXref UMLS:C3549485 ; oboInOwl:hasExactSynonym "blood group, p1pk system", "nor polyagglutination syndrome", "p phenotype", @@ -471256,6 +488558,7 @@ OMIM:111400 a owl:Class ; "p(2) phenotype", "p1(k) phenotype", "p2(k) phenotype" ; + skos:exactMatch UMLS:C3549485 ; biolink:category biolink:Disease . OMIM:112205 a owl:Class ; @@ -471268,7 +488571,6 @@ OMIM:112205 a owl:Class ; PMID:7916003 ; RO:0002525 CHR:9606chr19q13.2 ; RO:0003303 OMIM:613501 ; - oboInOwl:hasDbXref UMLS:C1413238 ; oboInOwl:hasExactSynonym "B lymphocyte-specific mb1 protein", "CD79A", "cd79a antigen", @@ -471276,7 +488578,9 @@ OMIM:112205 a owl:Class ; "membrane-bound immunoglobulin igm-alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:973 ; - skos:exactMatch HGNC_symbol:CD79A ; + skos:exactMatch UMLS:C1413238, + HGNC:1698, + HGNC_symbol:CD79A ; biolink:category biolink:Gene . OMIM:112250 a owl:Class ; @@ -471292,13 +488596,13 @@ OMIM:112250 a owl:Class ; PMID:4713573, PMID:5218689, PMID:8781110 ; - oboInOwl:hasDbXref UMLS:C1862177, - ORPHA:85182 ; oboInOwl:hasExactSynonym "DMSMFH", "bone dysplasia with malignant fibrous histiocytoma", "bone dysplasia with medullary fibrosarcoma", "diaphyseal medullary stenosis with malignant fibrous histiocytoma", "myopathy, limb-girdle, with bone fragility" ; + skos:exactMatch UMLS:C1862177, + ORPHA:85182 ; biolink:category biolink:Disease . OMIM:114290 a owl:Class ; @@ -471354,10 +488658,6 @@ OMIM:114290 a owl:Class ; PMID:9143916, PMID:956984, PMID:9678706 ; - oboInOwl:hasDbXref UMLS:C1842462, - UMLS:C1861922, - UMLS:C1861923, - UMLS:C3549544 ; oboInOwl:hasExactSynonym "acampomelic campomelic dysplasia", "acampomelic campomelic dysplasia with autosomal sex reversal", "campomelic dysplasia", @@ -471366,6 +488666,10 @@ OMIM:114290 a owl:Class ; "cmd1", "cmpd", "cmpd1/sra1" ; + skos:exactMatch UMLS:C1842462, + UMLS:C1861922, + UMLS:C1861923, + UMLS:C3549544 ; biolink:category biolink:Disease . OMIM:114450 a owl:Class ; @@ -471373,8 +488677,8 @@ OMIM:114450 a owl:Class ; IAO:0000142 PMID:281540, PMID:5396222, PMID:6113311 ; - oboInOwl:hasDbXref UMLS:C1861915 ; - oboInOwl:hasExactSynonym "cancer, familial, with 1n vitro radioresistance" . + oboInOwl:hasExactSynonym "cancer, familial, with 1n vitro radioresistance" ; + skos:exactMatch UMLS:C1861915 . OMIM:114580 a owl:Class ; rdfs:label "candidiasis, familial, 1" ; @@ -471389,12 +488693,12 @@ OMIM:114580 a owl:Class ; PMID:7352725, PMID:8120524 ; RO:0002525 CHR:9606chr2p22.3-p21 ; - oboInOwl:hasDbXref UMLS:C2751429 ; oboInOwl:hasExactSynonym "CANDF1", "candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease", "candidiasis, familial, 1", "cmct" ; rdfs:subClassOf OMIMPS:114580 ; + skos:exactMatch UMLS:C2751429 ; biolink:category biolink:Disease . OMIM:115650 a owl:Class ; @@ -471404,15 +488708,15 @@ OMIM:115650 a owl:Class ; PMID:6694185, PMID:9409860 ; RO:0002525 CHR:9606chr14q22-q23 ; - oboInOwl:hasDbXref UMLS:C1855179, - UMLS:C1857718, - UMLS:C3887926 ; oboInOwl:hasExactSynonym "CTRCT32", "cataract 32, multiple types", "cataract, anterior polar", "cataract, anterior polar, 1", "cataract, posterior polar, 5" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1855179, + UMLS:C1857718, + UMLS:C3887926 ; biolink:category biolink:Disease . OMIM:116200 a owl:Class ; @@ -471436,13 +488740,13 @@ OMIM:116200 a owl:Class ; PMID:8558562, PMID:9497259, PMID:9497271 ; - oboInOwl:hasDbXref UMLS:C1861828 ; oboInOwl:hasExactSynonym "CTRCT1", "cataract 1, multiple types", "cataract 1, multiple types, with or without microcornea", "cataract, duffy-linked", "cataract, zonular pulverulent, 1" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1861828 ; biolink:category biolink:Disease . OMIM:116600 a owl:Class ; @@ -471456,12 +488760,12 @@ OMIM:116600 a owl:Class ; PMID:19649315, PMID:7607651, PMID:9002669 ; - oboInOwl:hasDbXref UMLS:C1861825 ; oboInOwl:hasExactSynonym "CTRCT6", "cataract 6, multiple types", "cataract, age-related cortical, 2", "cataract, posterior polar, 1" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1861825 ; biolink:category biolink:Disease . OMIM:117210 a owl:Class ; @@ -471480,12 +488784,12 @@ OMIM:117210 a owl:Class ; PMID:19878914, PMID:5535038, PMID:7066668 ; - oboInOwl:hasDbXref UMLS:C1861736, - ORPHA:217012 ; oboInOwl:hasExactSynonym "SCA31", "spinocerebellar ataxia 31", "spinocerebellar ataxia, 16q22-linked" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1861736, + ORPHA:217012 ; biolink:category biolink:Disease . OMIM:118100 a owl:Class ; @@ -471506,12 +488810,12 @@ OMIM:118100 a owl:Class ; PMID:9546824, PMID:9875048, PMID:9880643 ; - oboInOwl:hasDbXref UMLS:C1861689 ; oboInOwl:hasExactSynonym "KFS1", "cervical vertebral fusion, autosomal dominant", "kfs", "klippel-feil syndrome 1, autosomal dominant" ; rdfs:subClassOf OMIMPS:118100 ; + skos:exactMatch UMLS:C1861689 ; biolink:category biolink:Disease . OMIM:120920 a owl:Class ; @@ -471545,7 +488849,6 @@ OMIM:120920 a owl:Class ; PMID:9551389 ; RO:0002525 CHR:9606chr1q32.2 ; RO:0003303 OMIM:612922 ; - oboInOwl:hasDbXref UMLS:C1824669 ; oboInOwl:hasExactSynonym "CD46", "antigen defined by monoclonal antibody tra-2-10", "cd46 antigen", @@ -471554,7 +488857,9 @@ OMIM:120920 a owl:Class ; "trophoblast-lymphocyte cross-reactive antigen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4179 ; - skos:exactMatch HGNC_symbol:CD46 ; + skos:exactMatch UMLS:C1824669, + HGNC:6953, + HGNC_symbol:CD46 ; biolink:category biolink:Gene . OMIM:121200 a owl:Class ; @@ -471584,13 +488889,13 @@ OMIM:121200 a owl:Class ; PMID:9425895, PMID:9430594, PMID:9854961 ; - oboInOwl:hasDbXref UMLS:C3149074, - ORPHA:1949 ; oboInOwl:hasExactSynonym "BFNS1", "epilepsy, benign neonatal, 1, and/or myokymia", "seizures, benign familial neonatal, 1", "seizures, benign familial neonatal, 1, and/or myokymia" ; rdfs:subClassOf OMIMPS:121200 ; + skos:exactMatch UMLS:C3149074, + ORPHA:1949 ; biolink:category biolink:Disease . OMIM:122000 a owl:Class ; @@ -471620,8 +488925,6 @@ OMIM:122000 a owl:Class ; PMID:6184085, PMID:7795607, PMID:8634716 ; - oboInOwl:hasDbXref UMLS:C0339284, - UMLS:C1852555 ; oboInOwl:hasExactSynonym "PPCD1", "corneal dystrophy, hereditary polymorphous posterior", "corneal dystrophy, posterior polymorphous, 1", @@ -471629,6 +488932,8 @@ OMIM:122000 a owl:Class ; "maumenee corneal dystrophy", "posterior polymorphous corneal dystrophy" ; rdfs:subClassOf OMIMPS:122000 ; + skos:exactMatch UMLS:C0339284, + UMLS:C1852555 ; biolink:category biolink:Disease . OMIM:122700 a owl:Class ; @@ -471659,12 +488964,12 @@ OMIM:122700 a owl:Class ; PMID:6023007, PMID:6049747, PMID:646989 ; - oboInOwl:hasDbXref UMLS:C0750384 ; oboInOwl:hasExactSynonym "coumarin resistance", "coumarin sensitivity", "coumarin, poor metabolism of", "warfarin resistance", "warfarin sensitivity" ; + skos:exactMatch UMLS:C0750384 ; biolink:category biolink:Disease . OMIM:123660 a owl:Class ; @@ -471684,8 +488989,6 @@ OMIM:123660 a owl:Class ; PMID:8004095, PMID:9497271, PMID:9782080 ; - oboInOwl:hasDbXref UMLS:C1413733, - UMLS:C1413737 ; oboInOwl:hasExactSynonym "CRYGA", "cryg5", "crystallin, gamma-1", @@ -471693,7 +488996,10 @@ OMIM:123660 a owl:Class ; "crystallin, gamma-e pseudogene 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1418 ; - skos:exactMatch HGNC_symbol:CRYGA ; + skos:exactMatch UMLS:C1413733, + UMLS:C1413737, + HGNC:2408, + HGNC_symbol:CRYGA ; biolink:category biolink:Gene . OMIM:124000 a owl:Class ; @@ -471705,12 +489011,12 @@ OMIM:124000 a owl:Class ; PMID:19389488, PMID:19508421, PMID:20518024 ; - oboInOwl:hasDbXref UMLS:C3541471, - ORPHA:1460, - ORPHA:254902 ; oboInOwl:hasExactSynonym "MC3DN1", "mitochondrial complex 3 deficiency, nuclear iia 1" ; rdfs:subClassOf OMIMPS:124000 ; + skos:exactMatch UMLS:C3541471, + ORPHA:1460, + ORPHA:254902 ; biolink:category biolink:Disease . OMIM:125370 a owl:Class ; @@ -471756,15 +489062,15 @@ OMIM:125370 a owl:Class ; PMID:9845282, PMID:9933295, PMID:9949204 ; - oboInOwl:hasDbXref UMLS:C0751781, - UMLS:C2931846, - ORPHA:101 ; oboInOwl:hasExactSynonym "DRPLA", "ataxia, chorea, seizures, and dementia", "dentatorubral-pallidoluysian atrophy", "haw river syndrome", "myoclonic epilepsy with choreoathetosis", "naito-oyanagi disease" ; + skos:exactMatch UMLS:C0751781, + UMLS:C2931846, + ORPHA:101 ; biolink:category biolink:Disease . OMIM:125400 a owl:Class ; @@ -471781,14 +489087,14 @@ OMIM:125400 a owl:Class ; PMID:6935585, PMID:7970601, PMID:9720092 ; - oboInOwl:hasDbXref UMLS:C0399379, - UMLS:C3276551 ; oboInOwl:hasExactSynonym "DTDP1", "dentin dysplasia, iia 1", "dentin dysplasia, iia i, with extreme microdontia and misshapen teeth", "dentin dysplasia, shields iia 1", "radicular dentin dysplasia", "rootless teeth" ; + skos:exactMatch UMLS:C0399379, + UMLS:C3276551 ; biolink:category biolink:Disease . OMIM:125630 a owl:Class ; @@ -471797,12 +489103,12 @@ OMIM:125630 a owl:Class ; PMID:5050327, PMID:6945804, PMID:7294069 ; - oboInOwl:hasDbXref UMLS:C0157743, - UMLS:C1852146 ; oboInOwl:hasExactSynonym "VBU", "dermodistortive urticaria", "vibratory angioedema", "vibratory urticaria" ; + skos:exactMatch UMLS:C0157743, + UMLS:C1852146 ; biolink:category biolink:Disease . OMIM:125800 a owl:Class ; @@ -471822,10 +489128,10 @@ OMIM:125800 a owl:Class ; PMID:7524315, PMID:8140421, PMID:9649557 ; - oboInOwl:hasDbXref UMLS:C1563706 ; oboInOwl:hasExactSynonym "NDI2", "diabetes insipidus, nephrogenic, iia 2", "diabetes insipidus, nephrogenic, 2, autosomal" ; + skos:exactMatch UMLS:C1563706 ; biolink:category biolink:Disease . OMIM:127500 a owl:Class ; @@ -471846,10 +489152,10 @@ OMIM:127500 a owl:Class ; PMID:28407215, PMID:29956681 ; RO:0002525 CHR:9606chr6q24.2-q25.2 ; - oboInOwl:hasDbXref UMLS:C2675711 ; oboInOwl:hasExactSynonym "DUH1", "dyschromatosis universalis hereditaria 1" ; rdfs:subClassOf OMIMPS:127500 ; + skos:exactMatch UMLS:C2675711 ; biolink:category biolink:Disease . OMIM:131200 a owl:Class ; @@ -471866,9 +489172,9 @@ OMIM:131200 a owl:Class ; PMID:8110213, PMID:9077609 ; RO:0002525 CHR:9606chr10q26 ; - oboInOwl:hasDbXref UMLS:C1851649 ; oboInOwl:hasExactSynonym "endo1", "endometriosis, susceptibility to, 1" ; + skos:exactMatch UMLS:C1851649 ; biolink:category biolink:Disease . OMIM:132100 a owl:Class ; @@ -471882,7 +489188,6 @@ OMIM:132100 a owl:Class ; PMID:5001029, PMID:8309513 ; RO:0002525 CHR:9606chr6p21.1 ; - oboInOwl:hasDbXref UMLS:C1868677 ; oboInOwl:hasExactSynonym "PPR1", "epilepsy, photogenic", "photoconvulsive reaction", @@ -471890,6 +489195,7 @@ OMIM:132100 a owl:Class ; "photosensitivity", "ppr" ; rdfs:subClassOf OMIMPS:132100 ; + skos:exactMatch UMLS:C1868677 ; biolink:category biolink:Disease . OMIM:133200 a owl:Class ; @@ -471911,10 +489217,6 @@ OMIM:133200 a owl:Class ; PMID:6437964, PMID:9326323, PMID:9843209 ; - oboInOwl:hasDbXref UMLS:C0265961, - UMLS:C1851479, - UMLS:C1851480, - UMLS:C4551486 ; oboInOwl:hasExactSynonym "EKVP1", "erythrokeratodermia figurata, congenital familial, 1n plaques", "erythrokeratodermia variabilis", @@ -471925,6 +489227,10 @@ OMIM:133200 a owl:Class ; "greither disease", "keratosis palmoplantaris transgrediens et progrediens" ; rdfs:subClassOf OMIMPS:133200 ; + skos:exactMatch UMLS:C0265961, + UMLS:C1851479, + UMLS:C1851480, + UMLS:C4551486 ; biolink:category biolink:Disease . OMIM:133239 a owl:Class ; @@ -471954,15 +489260,15 @@ OMIM:133239 a owl:Class ; PMID:22960999, PMID:28052061, PMID:7874113 ; - oboInOwl:hasDbXref UMLS:C0152018, - UMLS:C2751126, - UMLS:C3149254, - UMLS:C3149255 ; oboInOwl:hasExactSynonym "aerodigestive tract cancer, susceptibility to", "escc, susceptibility to", "esophageal cancer", "esophageal squamous cell carcinoma, susceptibility to", "gastric cardia adenocarcinoma, susceptibility to" ; + skos:exactMatch UMLS:C0152018, + UMLS:C2751126, + UMLS:C3149254, + UMLS:C3149255 ; biolink:category biolink:Disease . OMIM:135700 a owl:Class ; @@ -471989,8 +489295,6 @@ OMIM:135700 a owl:Class ; PMID:9066352, PMID:9797671, PMID:9863593 ; - oboInOwl:hasDbXref UMLS:C1851102, - UMLS:C2751105 ; oboInOwl:hasExactSynonym "CFEOM1", "blepharoptosis with absent eye movements", "feom1 locus", @@ -471998,6 +489302,8 @@ OMIM:135700 a owl:Class ; "fibrosis of extraocular muscles, congenital, 3b", "ophthalmoplegia, congenital" ; rdfs:subClassOf OMIMPS:135700 ; + skos:exactMatch UMLS:C1851102, + UMLS:C2751105 ; biolink:category biolink:Disease . OMIM:136760 a owl:Class ; @@ -472021,8 +489327,6 @@ OMIM:136760 a owl:Class ; PMID:8362915, PMID:8741108, PMID:9689987 ; - oboInOwl:hasDbXref UMLS:C1876203, - ORPHA:391474 ; oboInOwl:hasExactSynonym "FND1", "frontonasal dysplasia", "frontonasal dysplasia 1", @@ -472030,6 +489334,8 @@ OMIM:136760 a owl:Class ; "frontorhiny", "median facial cleft syndrome" ; rdfs:subClassOf OMIMPS:136760 ; + skos:exactMatch UMLS:C1876203, + ORPHA:391474 ; biolink:category biolink:Disease . OMIM:137580 a owl:Class ; @@ -472123,13 +489429,13 @@ OMIM:137580 a owl:Class ; PMID:9735382, PMID:9932949 ; RO:0002525 CHR:9606chr11q23 ; - oboInOwl:hasDbXref UMLS:C0040517, - UMLS:C1392622 ; oboInOwl:hasExactSynonym "GTS", "chronic motor tics", "gilles lange 50a tourette syndrome", "tourette disorder", "tourette syndrome" ; + skos:exactMatch UMLS:C0040517, + UMLS:C1392622 ; biolink:category biolink:Disease . OMIM:137920 a owl:Class ; @@ -472155,7 +489461,6 @@ OMIM:137920 a owl:Class ; PMID:9398836, PMID:9703339, PMID:9796880 ; - oboInOwl:hasDbXref UMLS:C0431693 ; oboInOwl:hasExactSynonym "RCAD", "cakut with diabetes", "congenital anomalies of the kidney and urinary tract with diabetes", @@ -472167,6 +489472,7 @@ OMIM:137920 a owl:Class ; "renal cysts and diabetes syndrome", "tubulointerstitial kidney disease, autosomal dominant, 3" ; rdfs:subClassOf OMIMPS:162000 ; + skos:exactMatch UMLS:C0431693 ; biolink:category biolink:Disease . OMIM:137950 a owl:Class ; @@ -472184,12 +489490,12 @@ OMIM:137950 a owl:Class ; PMID:9761542, PMID:9837825 ; RO:0002525 CHR:9606chr1q32 ; - oboInOwl:hasDbXref UMLS:C0403557 ; oboInOwl:hasExactSynonym "GFND1", "glomerulopathy with fibronectin deposits 1", "glomerulopathy with giant fibrillar deposits", "lobular glomerulopathy, familial" ; rdfs:subClassOf OMIMPS:137950 ; + skos:exactMatch UMLS:C0403557 ; biolink:category biolink:Disease . OMIM:138140 a owl:Class ; @@ -472255,7 +489561,6 @@ OMIM:138140 a owl:Class ; PMID:9688872 ; RO:0002525 CHR:9606chr1p34.2 ; RO:0003303 OMIM:614847 ; - oboInOwl:hasDbXref UMLS:C1335837 ; oboInOwl:hasExactSynonym "SLC2A1", "erythrocyte/hepatoma glucose transporter", "glucose transporter 1", @@ -472264,7 +489569,9 @@ OMIM:138140 a owl:Class ; "solute carrier family 2 (facilitated glucose transporter), member 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6513 ; - skos:exactMatch HGNC_symbol:SLC2A1 ; + skos:exactMatch UMLS:C1335837, + HGNC:11005, + HGNC_symbol:SLC2A1 ; biolink:category biolink:Gene . OMIM:138900 a owl:Class ; @@ -472280,10 +489587,10 @@ OMIM:138900 a owl:Class ; PMID:23263486, PMID:495648, PMID:6022241 ; - oboInOwl:hasDbXref UMLS:C1841837 ; oboInOwl:hasExactSynonym "UAQTL1", "gout susceptibility 1", "uric acid concentration, serum, quantitative trait locus 1" ; + skos:exactMatch UMLS:C1841837 ; biolink:category biolink:Disease . OMIM:141200 a owl:Class ; @@ -472301,12 +489608,12 @@ OMIM:141200 a owl:Class ; PMID:7042145, PMID:7108656, PMID:8787673 ; - oboInOwl:hasDbXref UMLS:C0241908, - UMLS:C0403440 ; oboInOwl:hasExactSynonym "BFH", "hematuria, benign familial", "thin membrane nephropathy", "thin-basement-membrane nephropathy" ; + skos:exactMatch UMLS:C0241908, + UMLS:C0403440 ; biolink:category biolink:Disease . OMIM:141749 a owl:Class ; @@ -472369,13 +489676,13 @@ OMIM:141749 a owl:Class ; PMID:93487, PMID:9668525, PMID:9859924 ; - oboInOwl:hasDbXref UMLS:C0271985, - UMLS:C1841621 ; oboInOwl:hasExactSynonym "HBFQTL1", "delta-beta thalassemia", "fetal hemoglobin quantitative trait locus 1", "hemoglobin f, hereditary persistence of", "hereditary persistence of fetal hemoglobin, hb gene cluster-related" ; + skos:exactMatch UMLS:C0271985, + UMLS:C1841621 ; biolink:category biolink:Disease . OMIM:142860 a owl:Class ; @@ -472433,7 +489740,6 @@ OMIM:142860 a owl:Class ; PMID:9104581, PMID:9288086, PMID:9888423 ; - oboInOwl:hasDbXref UMLS:C1415575 ; oboInOwl:hasExactSynonym "HLA-DRA", "hla-d histocompatibility iia", "hla-dr histocompatibility iia", @@ -472441,7 +489747,9 @@ OMIM:142860 a owl:Class ; "major histocompatibility complex, class ii, dr alpha" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3122 ; - skos:exactMatch HGNC_symbol:HLA-DRA ; + skos:exactMatch UMLS:C1415575, + HGNC:4947, + HGNC_symbol:HLA-DRA ; biolink:category biolink:Gene . OMIM:143095 a owl:Class ; @@ -472460,12 +489768,12 @@ OMIM:143095 a owl:Class ; PMID:6305194, PMID:6465206, PMID:9039660 ; - oboInOwl:hasDbXref UMLS:C1837657 ; oboInOwl:hasExactSynonym "SEDCJD", "chondrodysplasia with multiple dislocations", "humerospinal dysostosis", "spondyloepiphyseal dysplasia with congenital joint dislocations", "spondyloepiphyseal dysplasia, omani iia" ; + skos:exactMatch UMLS:C1837657 ; biolink:category biolink:Disease . OMIM:143470 a owl:Class ; @@ -472500,14 +489808,14 @@ OMIM:143470 a owl:Class ; PMID:9392500, PMID:9420339, PMID:9606122 ; - oboInOwl:hasDbXref UMLS:C3149462, - UMLS:C3149463 ; oboInOwl:hasExactSynonym "HALP1", "cetp deficiency", "cholesterol ester transfer protein deficiency", "hdlcq10", "high density lipoprotein cholesterol level quantitative trait locus 10", "hyperalphalipoproteinemia 1" ; + skos:exactMatch UMLS:C3149462, + UMLS:C3149463 ; biolink:category biolink:Disease . OMIM:144650 a owl:Class ; @@ -472515,13 +489823,13 @@ OMIM:144650 a owl:Class ; IAO:0000142 PMID:12655414, PMID:16200213, PMID:6130351 ; - oboInOwl:hasDbXref UMLS:C0020481 ; oboInOwl:hasExactSynonym "hyperchylomicronemia with hyperprebetalipoproteinemia, familial", "hyperchylomicronemia, late-onset", "hyperlipemia, combined fat and carbohydrate-induced", "hyperlipemia, mixed", "hyperlipidemia, iia 5", "hyperlipoproteinemia, iia 5" ; + skos:exactMatch UMLS:C0020481 ; biolink:category biolink:Disease . OMIM:145250 a owl:Class ; @@ -472534,11 +489842,11 @@ OMIM:145250 a owl:Class ; PMID:2802660, PMID:4326548, PMID:666331 ; - oboInOwl:hasDbXref UMLS:C1840392 ; oboInOwl:hasExactSynonym "FPHH", "hyperpigmentation with or without hypopigmentation, familial progressive", "hyperpigmentation, familial progressive, 2, formerly", "melanosis universalis hereditaria" ; + skos:exactMatch UMLS:C1840392 ; biolink:category biolink:Disease . OMIM:145420 a owl:Class ; @@ -472553,8 +489861,6 @@ OMIM:145420 a owl:Class ; PMID:3425628, PMID:3631134, PMID:8849013 ; - oboInOwl:hasDbXref UMLS:C0796179, - ORPHA:1519 ; oboInOwl:hasExactSynonym "TBHS1", "brachycephalofrontonasal dysplasia", "chromosome 22q11.2 deletion syndrome, opitz phenotype", @@ -472570,6 +489876,8 @@ OMIM:145420 a owl:Class ; "teebi hypertelorism syndrome", "teebi hypertelorism syndrome 1" ; rdfs:subClassOf OMIMPS:145420 ; + skos:exactMatch UMLS:C0796179, + ORPHA:1519 ; biolink:category biolink:Disease . OMIM:145600 a owl:Class ; @@ -472641,14 +489949,14 @@ OMIM:145600 a owl:Class ; PMID:9199552, PMID:9497245, PMID:9677061 ; - oboInOwl:hasDbXref UMLS:C1840365, - UMLS:C2930980 ; oboInOwl:hasExactSynonym "MHS1", "hyperpyrexia, malignant", "hyperthermia of anesthesia", "malignant hyperthermia, susceptibility to, 1", "mhs" ; rdfs:subClassOf OMIMPS:145600 ; + skos:exactMatch UMLS:C1840365, + UMLS:C2930980 ; biolink:category biolink:Disease . OMIM:145900 a owl:Class ; @@ -472675,14 +489983,14 @@ OMIM:145900 a owl:Class ; PMID:7506095, PMID:8275092, PMID:8606695 ; - oboInOwl:hasDbXref UMLS:C0011195, - ORPHA:64748 ; oboInOwl:hasExactSynonym "charcot-marie-tooth disease, iia 3", "dejerine-sottas neuropathy", "dejerine-sottas syndrome", "hereditary motor and sensory neuropathy iia 3", "hypertrophic neuropathy of dejerine-sottas" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C0011195, + ORPHA:64748 ; biolink:category biolink:Disease . OMIM:146200 a owl:Class ; @@ -472708,13 +490016,13 @@ OMIM:146200 a owl:Class ; PMID:5950593, PMID:7473668, PMID:8478012 ; - oboInOwl:hasDbXref UMLS:C5241444, - ORPHA:189466, - ORPHA:2238, - ORPHA:2239 ; oboInOwl:hasExactSynonym "FIH1", "hypoparathyroidism, familial isolated, 1" ; rdfs:subClassOf OMIMPS:146200 ; + skos:exactMatch UMLS:C5241444, + ORPHA:189466, + ORPHA:2238, + ORPHA:2239 ; biolink:category biolink:Disease . OMIM:146255 a owl:Class ; @@ -472736,14 +490044,14 @@ OMIM:146255 a owl:Class ; PMID:874665, PMID:9415468, PMID:9916869 ; - oboInOwl:hasDbXref UMLS:C1840333, - ORPHA:2237 ; oboInOwl:hasExactSynonym "HDRS", "barakat syndrome", "hdr syndrome", "hypoparathyroidism, sensorineural deafness, and renal disease", "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome", "nephrosis, nerve deafness, and hypoparathyroidism" ; + skos:exactMatch UMLS:C1840333, + ORPHA:2237 ; biolink:category biolink:Disease . OMIM:146450 a owl:Class ; @@ -472755,10 +490063,10 @@ OMIM:146450 a owl:Class ; PMID:4003448, PMID:440901 ; RO:0002525 CHR:9606chr7q32.2-q36.1 ; - oboInOwl:hasDbXref UMLS:C2675154 ; oboInOwl:hasExactSynonym "HYSP3", "hypospadias 3, autosomal" ; rdfs:subClassOf OMIMPS:300633 ; + skos:exactMatch UMLS:C2675154 ; biolink:category biolink:Disease . OMIM:147180 a owl:Class ; @@ -472774,10 +490082,6 @@ OMIM:147180 a owl:Class ; PMID:6808515, PMID:6815656, PMID:6964396 ; - oboInOwl:hasDbXref UMLS:C1415975, - UMLS:C1415976, - UMLS:C1415977, - UMLS:C1840248 ; oboInOwl:hasExactSynonym "IGHE", "immunoglobulin epsilon", "immunoglobulin: heavy epsilon chain", @@ -472786,7 +490090,12 @@ OMIM:147180 a owl:Class ; "v(kappa) pseudogenes" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3497 ; - skos:exactMatch HGNC_symbol:IGHE ; + skos:exactMatch UMLS:C1415975, + UMLS:C1415976, + UMLS:C1415977, + UMLS:C1840248, + HGNC:5522, + HGNC_symbol:IGHE ; biolink:category biolink:Gene . OMIM:147891 a owl:Class ; @@ -472805,9 +490114,6 @@ OMIM:147891 a owl:Class ; PMID:5512529, PMID:6212344, PMID:7573128 ; - oboInOwl:hasDbXref UMLS:C1840061, - UMLS:C1868581, - ORPHA:1509 ; oboInOwl:hasExactSynonym "ICPPS", "coxopodopatellar syndrome", "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension", @@ -472815,6 +490121,9 @@ OMIM:147891 a owl:Class ; "patella aplasia, coxa vara, and tarsal synostosis", "scott-taor syndrome", "small patella syndrome" ; + skos:exactMatch UMLS:C1840061, + UMLS:C1868581, + ORPHA:1509 ; biolink:category biolink:Disease . OMIM:148300 a owl:Class ; @@ -472850,10 +490159,10 @@ OMIM:148300 a owl:Class ; PMID:3513592, PMID:5387413, PMID:894997 ; - oboInOwl:hasDbXref UMLS:C1835677 ; oboInOwl:hasExactSynonym "KTCN1", "keratoconus 1" ; rdfs:subClassOf OMIMPS:148300 ; + skos:exactMatch UMLS:C1835677 ; biolink:category biolink:Disease . OMIM:150550 a owl:Class ; @@ -472869,10 +490178,10 @@ OMIM:150550 a owl:Class ; PMID:641207, PMID:6610763, PMID:7377154 ; - oboInOwl:hasDbXref UMLS:C0272174 ; oboInOwl:hasExactSynonym "PFITS", "lazy leukocyte syndrome", "periodic fever, immunodeficiency, and thrombocytopenia syndrome" ; + skos:exactMatch UMLS:C0272174 ; biolink:category biolink:Disease . OMIM:150800 a owl:Class ; @@ -472896,13 +490205,13 @@ OMIM:150800 a owl:Class ; PMID:5313386, PMID:5855898, PMID:9420534 ; - oboInOwl:hasDbXref UMLS:C1708350, - ORPHA:523 ; oboInOwl:hasExactSynonym "HLRCC", "hereditary leiomyomatosis and renal cell cancer", "leiomyoma, multiple cutaneous", "leiomyomatosis and renal cell cancer, hereditary", "multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma" ; + skos:exactMatch UMLS:C1708350, + ORPHA:523 ; biolink:category biolink:Disease . OMIM:153100 a owl:Class ; @@ -472926,8 +490235,6 @@ OMIM:153100 a owl:Class ; PMID:642583, PMID:9817924, PMID:9973292 ; - oboInOwl:hasDbXref UMLS:C1704423, - ORPHA:79452 ; oboInOwl:hasExactSynonym "LMPHM1", "lymphatic malformation 1", "lymphedema, early-onset", @@ -472937,6 +490244,8 @@ OMIM:153100 a owl:Class ; "nonne-milroy lymphedema", "primary congenital lymphedema" ; rdfs:subClassOf OMIMPS:153100 ; + skos:exactMatch UMLS:C1704423, + ORPHA:79452 ; biolink:category biolink:Disease . OMIM:155255 a owl:Class ; @@ -472971,14 +490280,14 @@ OMIM:155255 a owl:Class ; PMID:32296180, PMID:7661930, PMID:9288095 ; - oboInOwl:hasDbXref UMLS:C0025149, + oboInOwl:hasExactSynonym "MDB", + "medulloblastoma" ; + skos:exactMatch UMLS:C0025149, UMLS:C1334970, ORPHA:251858, ORPHA:251863, ORPHA:251867, ORPHA:616 ; - oboInOwl:hasExactSynonym "MDB", - "medulloblastoma" ; biolink:category biolink:Disease . OMIM:157300 a owl:Class ; @@ -473014,12 +490323,12 @@ OMIM:157300 a owl:Class ; PMID:9259375, PMID:9989627 ; RO:0002525 CHR:9606chr4q24 ; - oboInOwl:hasDbXref UMLS:C3887485 ; oboInOwl:hasExactSynonym "mgau", "mgr1", "migraine", "migraine with or without aura, susceptibility to, 1" ; rdfs:subClassOf OMIMPS:157300 ; + skos:exactMatch UMLS:C3887485 ; biolink:category biolink:Disease . OMIM:158320 a owl:Class ; @@ -473057,10 +490366,10 @@ OMIM:158320 a owl:Class ; PMID:9634524, PMID:964982, PMID:992186 ; - oboInOwl:hasDbXref UMLS:C1321489 ; oboInOwl:hasExactSynonym "MRTES", "cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas", "muir-torre syndrome" ; + skos:exactMatch UMLS:C1321489 ; biolink:category biolink:Disease . OMIM:158600 a owl:Class ; @@ -473078,7 +490387,6 @@ OMIM:158600 a owl:Class ; PMID:5933049, PMID:712386, PMID:8023839 ; - oboInOwl:hasDbXref UMLS:C1834690 ; oboInOwl:hasExactSynonym "SMALED1", "kugelberg-welander syndrome, autosomal dominant", "smaled", @@ -473086,6 +490394,7 @@ OMIM:158600 a owl:Class ; "spinal muscular atrophy, juvenile, proximal, autosomal dominant", "spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant" ; rdfs:subClassOf OMIMPS:158600 ; + skos:exactMatch UMLS:C1834690 ; biolink:category biolink:Disease . OMIM:159900 a owl:Class ; @@ -473132,8 +490441,6 @@ OMIM:159900 a owl:Class ; PMID:6058147, PMID:8004804, PMID:8813214 ; - oboInOwl:hasDbXref UMLS:C1834570, - ORPHA:36899 ; oboInOwl:hasExactSynonym "DYT11", "dystonia 11, myoclonic", "dystonia, alcohol-responsive", @@ -473141,6 +490448,8 @@ OMIM:159900 a owl:Class ; "myoclonus, hereditary essential", "myoclonus-dystonia syndrome" ; rdfs:subClassOf OMIMPS:128100 ; + skos:exactMatch UMLS:C1834570, + ORPHA:36899 ; biolink:category biolink:Disease . OMIM:160150 a owl:Class ; @@ -473156,12 +490465,12 @@ OMIM:160150 a owl:Class ; PMID:5016690, PMID:7935525, PMID:8544184 ; - oboInOwl:hasDbXref UMLS:C4551952 ; oboInOwl:hasExactSynonym "CNM1", "myopathy, centronuclear, 1", "myopathy, centronuclear, autosomal dominant", "myotubular myopathy, autosomal dominant" ; rdfs:subClassOf OMIMPS:160150 ; + skos:exactMatch UMLS:C4551952 ; biolink:category biolink:Disease . OMIM:161050 a owl:Class ; @@ -473177,9 +490486,6 @@ OMIM:161050 a owl:Class ; PMID:7143386, PMID:7857841, PMID:831628 ; - oboInOwl:hasDbXref UMLS:C0406443, - ORPHA:280654, - ORPHA:79153 ; oboInOwl:hasExactSynonym "NDNC1", "claw-shaped nails", "nail disorder, nonsyndromic congenital, 1", @@ -473189,6 +490495,9 @@ OMIM:161050 a owl:Class ; "onychodystrophy totalis, isolated", "twenty-nail dystrophy" ; rdfs:subClassOf OMIMPS:161050 ; + skos:exactMatch UMLS:C0406443, + ORPHA:280654, + ORPHA:79153 ; biolink:category biolink:Disease . OMIM:161800 a owl:Class ; @@ -473246,16 +490555,16 @@ OMIM:161800 a owl:Class ; PMID:8789770, PMID:9185179, PMID:9321754 ; - oboInOwl:hasDbXref UMLS:C1834339, - UMLS:C2750536, - UMLS:C2750537, - UMLS:C3711389 ; oboInOwl:hasExactSynonym "NEM3", "myopathy, actin, congenital, with cores", "myopathy, actin, congenital, with excess of thin myofilaments", "nemaline myopathy 3", "nemaline myopathy 3, with intranuclear rods" ; rdfs:subClassOf OMIMPS:161800 ; + skos:exactMatch UMLS:C1834339, + UMLS:C2750536, + UMLS:C2750537, + UMLS:C3711389 ; biolink:category biolink:Disease . OMIM:162091 a owl:Class ; @@ -473277,11 +490586,11 @@ OMIM:162091 a owl:Class ; PMID:8780094, PMID:9120449, PMID:9399891 ; - oboInOwl:hasDbXref UMLS:C4048809 ; oboInOwl:hasExactSynonym "SWNTS1", "neurilemmomatosis, congenital cutaneous", "schwannomatosis 1" ; rdfs:subClassOf OMIMPS:162091 ; + skos:exactMatch UMLS:C4048809 ; biolink:category biolink:Disease . OMIM:162643 a owl:Class ; @@ -473338,7 +490647,6 @@ OMIM:162643 a owl:Class ; PMID:9933168 ; RO:0002525 CHR:9606chr2q22.1 ; RO:0003303 OMIM:193670 ; - oboInOwl:hasDbXref UMLS:C1332823 ; oboInOwl:hasExactSynonym "CXCR4", "chemokine, cxc motif, receptor 4", "d2s201e", @@ -473351,7 +490659,9 @@ OMIM:162643 a owl:Class ; "seven-transmembrane-segment receptor, spleen" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7852 ; - skos:exactMatch HGNC_symbol:CXCR4 ; + skos:exactMatch UMLS:C1332823, + HGNC:2561, + HGNC_symbol:CXCR4 ; biolink:category biolink:Gene . OMIM:163260 a owl:Class ; @@ -473364,7 +490674,6 @@ OMIM:163260 a owl:Class ; PMID:8248256, PMID:8903741, PMID:9501099 ; - oboInOwl:hasDbXref UMLS:C1417700 ; oboInOwl:hasExactSynonym "NFE2L1", "nfe2-related factor 1", "nfe2-related transcription factor", @@ -473372,7 +490681,9 @@ OMIM:163260 a owl:Class ; "transcription factor 11" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4779 ; - skos:exactMatch HGNC_symbol:NFE2L1 ; + skos:exactMatch UMLS:C1417700, + HGNC:7781, + HGNC_symbol:NFE2L1 ; biolink:category biolink:Gene . OMIM:163950 a owl:Class ; @@ -473487,11 +490798,6 @@ OMIM:163950 a owl:Class ; PMID:9412792, PMID:9660063, PMID:9781012 ; - oboInOwl:hasDbXref UMLS:C0028326, - UMLS:C0041409, - UMLS:C1527404, - UMLS:C4551602, - ORPHA:648 ; oboInOwl:hasExactSynonym "NS1", "female pseudo-turner syndrome", "male turner syndrome", @@ -473500,6 +490806,11 @@ OMIM:163950 a owl:Class ; "pterygium colli syndrome", "turner phenotype with normal karyotype" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C0028326, + UMLS:C0041409, + UMLS:C1527404, + UMLS:C4551602, + ORPHA:648 ; biolink:category biolink:Disease . OMIM:164280 a owl:Class ; @@ -473526,8 +490837,6 @@ OMIM:164280 a owl:Class ; PMID:9268091, PMID:9375923, PMID:9731532 ; - oboInOwl:hasDbXref UMLS:C0796068, - UMLS:C4551774 ; oboInOwl:hasExactSynonym "FGLDS1", "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum", "feingold syndrome", @@ -473539,6 +490848,8 @@ OMIM:164280 a owl:Class ; "oculodigitoesophagoduodenal syndrome", "oded syndrome" ; rdfs:subClassOf OMIMPS:164280 ; + skos:exactMatch UMLS:C0796068, + UMLS:C4551774 ; biolink:category biolink:Disease . OMIM:164300 a owl:Class ; @@ -473575,10 +490886,10 @@ OMIM:164300 a owl:Class ; PMID:8618681, PMID:9084936, PMID:9462747 ; - oboInOwl:hasDbXref UMLS:C0270952 ; oboInOwl:hasExactSynonym "OPMD", "muscular dystrophy, oculopharyngeal", "oculopharyngeal muscular dystrophy" ; + skos:exactMatch UMLS:C0270952 ; biolink:category biolink:Disease . OMIM:164770 a owl:Class ; @@ -473617,7 +490928,6 @@ OMIM:164770 a owl:Class ; PMID:8973913 ; RO:0002525 CHR:9606chr5q32 ; RO:0003303 OMIM:221820 ; - oboInOwl:hasDbXref UMLS:C0879468 ; oboInOwl:hasExactSynonym "CSF1R", "c-fms", "cd115 antigen", @@ -473627,7 +490937,9 @@ OMIM:164770 a owl:Class ; "v-fms mcdonough feline sarcoma viral oncogene homolog, formerly" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1436 ; - skos:exactMatch HGNC_symbol:CSF1R ; + skos:exactMatch UMLS:C0879468, + HGNC:2433, + HGNC_symbol:CSF1R ; biolink:category biolink:Gene . OMIM:164874 a owl:Class ; @@ -473650,7 +490962,6 @@ OMIM:164874 a owl:Class ; PMID:8170957 ; RO:0002525 CHR:9606chr14q12 ; RO:0003303 OMIM:613454 ; - oboInOwl:hasDbXref UMLS:C0812297 ; oboInOwl:hasExactSynonym "FOXG1", "brain factor 1", "forkhead box g1", @@ -473659,7 +490970,9 @@ OMIM:164874 a owl:Class ; "oncogene qin" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2290 ; - skos:exactMatch HGNC_symbol:FOXG1 ; + skos:exactMatch UMLS:C0812297, + HGNC:3811, + HGNC_symbol:FOXG1 ; biolink:category biolink:Gene . OMIM:167320 a owl:Class ; @@ -473684,9 +490997,6 @@ OMIM:167320 a owl:Class ; PMID:28692196, PMID:31848255, PMID:7182974 ; - oboInOwl:hasDbXref UMLS:C1833662, - UMLS:C4551951, - ORPHA:52430 ; oboInOwl:hasExactSynonym "IBMPFD1", "inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1", "lower motor neuron degeneration with paget-like bone disease", @@ -473695,6 +491005,9 @@ OMIM:167320 a owl:Class ; "pagetoid amyotrophic lateral sclerosis", "pagetoid neuroskeletal syndrome" ; rdfs:subClassOf OMIMPS:167320 ; + skos:exactMatch UMLS:C1833662, + UMLS:C4551951, + ORPHA:52430 ; biolink:category biolink:Disease . OMIM:168300 a owl:Class ; @@ -473731,12 +491044,12 @@ OMIM:168300 a owl:Class ; PMID:852462, PMID:8580427, PMID:9131651 ; - oboInOwl:hasDbXref UMLS:C0221055, - UMLS:C1868619 ; oboInOwl:hasExactSynonym "PMC", "paralysis periodica paramyotonica", "paramyotonia congenita of von eulenburg", "paramyotonia congenita without cold paralysis" ; + skos:exactMatch UMLS:C0221055, + UMLS:C1868619 ; biolink:category biolink:Disease . OMIM:170650 a owl:Class ; @@ -473764,11 +491077,11 @@ OMIM:170650 a owl:Class ; PMID:7358424, PMID:8100208, PMID:9205917 ; - oboInOwl:hasDbXref UMLS:C0031106, - UMLS:C4551681 ; oboInOwl:hasExactSynonym "periodontitis, aggressive, 1", "periodontitis, juvenile", "periodontitis, prepubertal" ; + skos:exactMatch UMLS:C0031106, + UMLS:C4551681 ; biolink:category biolink:Disease . OMIM:171860 a owl:Class ; @@ -473790,13 +491103,14 @@ OMIM:171860 a owl:Class ; PMID:6455664, PMID:7550225 ; RO:0002525 CHR:9606chr21q22.3 ; - oboInOwl:hasDbXref UMLS:C1418491 ; oboInOwl:hasExactSynonym "PFKL", "pfk, liver iia", "phosphofructokinase, liver iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5211 ; - skos:exactMatch HGNC_symbol:PFKL ; + skos:exactMatch UMLS:C1418491, + HGNC:8876, + HGNC_symbol:PFKL ; biolink:category biolink:Gene . OMIM:174500 a owl:Class ; @@ -473823,8 +491137,6 @@ OMIM:174500 a owl:Class ; PMID:8487274, PMID:8533803, PMID:9950363 ; - oboInOwl:hasDbXref UMLS:C0241397, - UMLS:C1868114 ; oboInOwl:hasExactSynonym "PPD2", "polydactyly of triphalangeal thumb", "polydactyly, preaxial 2", @@ -473834,6 +491146,8 @@ OMIM:174500 a owl:Class ; "triphalangeal thumb-polydactyly syndrome", "triphalangeal thumb-polysyndactyly syndrome" ; rdfs:subClassOf OMIMPS:174400 ; + skos:exactMatch UMLS:C0241397, + UMLS:C1868114 ; biolink:category biolink:Disease . OMIM:176000 a owl:Class ; @@ -473909,10 +491223,6 @@ OMIM:176000 a owl:Class ; PMID:8563760, PMID:9199558, PMID:9860299 ; - oboInOwl:hasDbXref UMLS:C0162565, - UMLS:C0268322, - UMLS:C2936779, - ORPHA:79276 ; oboInOwl:hasExactSynonym "AIP", "pbgd deficiency", "porphobilinogen deaminase deficiency", @@ -473922,6 +491232,10 @@ OMIM:176000 a owl:Class ; "porphyria, swedish iia", "ups deficiency", "uroporphyrinogen synthase deficiency" ; + skos:exactMatch UMLS:C0162565, + UMLS:C0268322, + UMLS:C2936779, + ORPHA:79276 ; biolink:category biolink:Disease . OMIM:176200 a owl:Class ; @@ -473960,8 +491274,6 @@ OMIM:176200 a owl:Class ; PMID:9254745, PMID:9738863, PMID:9811936 ; - oboInOwl:hasDbXref UMLS:C0162532, - UMLS:C3149848 ; oboInOwl:hasExactSynonym "VP", "porphyria variegata", "porphyria, south african iia", @@ -473969,6 +491281,8 @@ OMIM:176200 a owl:Class ; "protoporphyrinogen oxidase deficiency", "variegate porphyria", "variegate porphyria, homozygous variant" ; + skos:exactMatch UMLS:C0162532, + UMLS:C3149848 ; biolink:category biolink:Disease . OMIM:176270 a owl:Class ; @@ -474174,17 +491488,17 @@ OMIM:176270 a owl:Class ; PMID:9931534, PMID:9949213, PMID:9973278 ; - oboInOwl:hasDbXref UMLS:C0032897, - UMLS:C1867858, - ORPHA:177907, - ORPHA:177910, - ORPHA:739, - ORPHA:98754 ; oboInOwl:hasExactSynonym "PWS", "prader-labhart-willi syndrome", "prader-willi syndrome", "prader-willi syndrome chromosome region", "prader-willi-like syndrome associated with chromosome 6" ; + skos:exactMatch UMLS:C0032897, + UMLS:C1867858, + ORPHA:177907, + ORPHA:177910, + ORPHA:739, + ORPHA:98754 ; biolink:category biolink:Disease . OMIM:178300 a owl:Class ; @@ -474196,9 +491510,9 @@ OMIM:178300 a owl:Class ; PMID:9150162 ; RO:0002525 CHR:9606chr1p34.1-p32 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C1867438 ; oboInOwl:hasExactSynonym "PTOS1", "ptosis, hereditary congenital 1" ; + skos:exactMatch UMLS:C1867438 ; biolink:category biolink:Disease . OMIM:179050 a owl:Class ; @@ -474229,7 +491543,6 @@ OMIM:179050 a owl:Class ; PMID:6930359, PMID:9466265, PMID:9575171 ; - oboInOwl:hasDbXref UMLS:C1418610 ; oboInOwl:hasExactSynonym "PKM", "opa-interacting protein 3", "pyruvate kinase 3", @@ -474239,7 +491552,9 @@ OMIM:179050 a owl:Class ; "thyroid hormone-binding protein, cytosolic" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5315 ; - skos:exactMatch HGNC_symbol:PKM ; + skos:exactMatch UMLS:C1418610, + HGNC:9021, + HGNC_symbol:PKM ; biolink:category biolink:Gene . OMIM:180472 a owl:Class ; @@ -474258,7 +491573,6 @@ OMIM:180472 a owl:Class ; PMID:9582194 ; RO:0002525 CHR:9606chr15q25.2 ; RO:0003303 OMIM:612527 ; - oboInOwl:hasDbXref UMLS:C1419713 ; oboInOwl:hasExactSynonym "RPS17", "ribosomal protein s17", "ribosomal protein s17a", @@ -474267,7 +491581,9 @@ OMIM:180472 a owl:Class ; "ribosomal protein s17b-like 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6218 ; - skos:exactMatch HGNC_symbol:RPS17 ; + skos:exactMatch UMLS:C1419713, + HGNC:10397, + HGNC_symbol:RPS17 ; biolink:category biolink:Gene . OMIM:180800 a owl:Class ; @@ -474278,10 +491594,10 @@ OMIM:180800 a owl:Class ; PMID:4467779, PMID:5834704, PMID:9543325 ; - oboInOwl:hasDbXref UMLS:C0205713, - ORPHA:3115 ; oboInOwl:hasExactSynonym "roussy-levy hereditary areflexic dystasia", "roussy-levy syndrome" ; + skos:exactMatch UMLS:C0205713, + ORPHA:3115 ; biolink:category biolink:Disease . OMIM:180849 a owl:Class ; @@ -474351,7 +491667,6 @@ OMIM:180849 a owl:Class ; PMID:9329350, PMID:9382141, PMID:9949198 ; - oboInOwl:hasDbXref UMLS:C4551859 ; oboInOwl:hasExactSynonym "RSTS1", "broad thumb-hallux syndrome", "broad thumbs and great toes, characteristic facies, and mental retardation", @@ -474359,6 +491674,7 @@ OMIM:180849 a owl:Class ; "rubinstein syndrome", "rubinstein-taybi syndrome 1" ; rdfs:subClassOf OMIMPS:180849 ; + skos:exactMatch UMLS:C4551859 ; biolink:category biolink:Disease . OMIM:182280 a owl:Class ; @@ -474392,10 +491708,10 @@ OMIM:182280 a owl:Class ; PMID:7333590, PMID:8782463 ; RO:0002525 CHR:9606chr3p23-p21 ; - oboInOwl:hasDbXref UMLS:C0149925 ; oboInOwl:hasExactSynonym "sclc", "sclc1", "small cell cancer of the lung" ; + skos:exactMatch UMLS:C0149925 ; biolink:category biolink:Disease . OMIM:186100 a owl:Class ; @@ -474409,12 +491725,12 @@ OMIM:186100 a owl:Class ; PMID:8110413, PMID:8313625, PMID:9002680 ; - oboInOwl:hasDbXref UMLS:C1861366, - ORPHA:93404 ; oboInOwl:hasExactSynonym "SDTY3", "ring and little finger syndactyly", "syndactyly of fingers 4 and 5", "syndactyly, iia 3" ; + skos:exactMatch UMLS:C1861366, + ORPHA:93404 ; biolink:category biolink:Disease . OMIM:188050 a owl:Class ; @@ -474430,7 +491746,6 @@ OMIM:188050 a owl:Class ; PMID:22716977, PMID:8916933, PMID:9869612 ; - oboInOwl:hasDbXref UMLS:C3160733 ; oboInOwl:hasExactSynonym "THPH1", "thrombophilia due to factor 2 defect", "thrombophilia due to thrombin defect", @@ -474438,6 +491753,7 @@ OMIM:188050 a owl:Class ; "venous thromboembolism", "venous thrombosis" ; rdfs:subClassOf OMIMPS:188050 ; + skos:exactMatch UMLS:C3160733 ; biolink:category biolink:Disease . OMIM:190350 a owl:Class ; @@ -474471,12 +491787,12 @@ OMIM:190350 a owl:Class ; PMID:8530105, PMID:861178, PMID:9150732 ; - oboInOwl:hasDbXref UMLS:C0432233, - ORPHA:77258 ; oboInOwl:hasExactSynonym "TRPS1", "trichorhinophalangeal syndrome, iia 1", "trps 1" ; rdfs:subClassOf OMIMPS:190350 ; + skos:exactMatch UMLS:C0432233, + ORPHA:77258 ; biolink:category biolink:Disease . OMIM:191740 a owl:Class ; @@ -474567,7 +491883,6 @@ OMIM:191740 a owl:Class ; PMID:9929972 ; RO:0002525 CHR:9606chr2q37.1 ; RO:0003303 OMIM:143500 ; - oboInOwl:hasDbXref UMLS:C0537026 ; oboInOwl:hasExactSynonym "UGT1A1", "bilirubin udp-glucuronosyltransferase", "udp-glycosyltransferase 1", @@ -474579,7 +491894,9 @@ OMIM:191740 a owl:Class ; "uridine diphosphate glycosyltransferase 1 family, polypeptide a1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:54658 ; - skos:exactMatch HGNC_symbol:UGT1A1 ; + skos:exactMatch UMLS:C0537026, + HGNC:12530, + HGNC_symbol:UGT1A1 ; biolink:category biolink:Gene . OMIM:192430 a owl:Class ; @@ -474666,13 +491983,13 @@ OMIM:192430 a owl:Class ; PMID:9326327, PMID:9350810, PMID:9773854 ; - oboInOwl:hasDbXref UMLS:C0220704, - ORPHA:567 ; oboInOwl:hasExactSynonym "VCFS", "chromosome 22q11.2 deletion syndrome", "shprintzen vcf syndrome", "vcf syndrome", "velocardiofacial syndrome" ; + skos:exactMatch UMLS:C0220704, + ORPHA:567 ; biolink:category biolink:Disease . OMIM:193220 a owl:Class ; @@ -474687,16 +492004,16 @@ OMIM:193220 a owl:Class ; PMID:7065944, PMID:8431155, PMID:8482797 ; - oboInOwl:hasDbXref UMLS:C3888099, - UMLS:C5435648, - ORPHA:263347, - ORPHA:3086 ; oboInOwl:hasExactSynonym "VRCP", "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2", "vitreoretinochoroidopathy", "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract", "vitreoretinochoroidopathy, autosomal dominant", "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos" ; + skos:exactMatch UMLS:C3888099, + UMLS:C5435648, + ORPHA:263347, + ORPHA:3086 ; biolink:category biolink:Disease . OMIM:193300 a owl:Class ; @@ -474817,12 +492134,12 @@ OMIM:193300 a owl:Class ; PMID:9758595, PMID:9829911, PMID:9880225 ; - oboInOwl:hasDbXref UMLS:C0019562, - ORPHA:892 ; oboInOwl:hasExactSynonym "VHLS", "vhl", "von hippel-lindau syndrome", "von hippel-lindau syndrome, modifiers of" ; + skos:exactMatch UMLS:C0019562, + ORPHA:892 ; biolink:category biolink:Disease . OMIM:194190 a owl:Class ; @@ -474877,14 +492194,14 @@ OMIM:194190 a owl:Class ; PMID:9482639, PMID:9489803 ; RO:0002525 CHR:9606chr4p16.3 ; - oboInOwl:hasDbXref UMLS:C0796117, - UMLS:C1956097 ; oboInOwl:hasExactSynonym "WHS", "chromosome 4p16.3 deletion syndrome", "pitt syndrome", "pitt-rogers-danks syndrome", "wittwer syndrome", "wolf-hirschhorn syndrome" ; + skos:exactMatch UMLS:C0796117, + UMLS:C1956097 ; biolink:category biolink:Disease . OMIM:200150 a owl:Class ; @@ -474922,13 +492239,13 @@ OMIM:200150 a owl:Class ; PMID:7936287, PMID:8599563, PMID:9382101 ; - oboInOwl:hasDbXref UMLS:C0393576 ; oboInOwl:hasExactSynonym "CHAC", "acanthocytosis with neurologic disorder", "chorea-acanthocytosis", "choreoacanthocytosis", "levine-critchley syndrome", "neuroacanthocytosis" ; + skos:exactMatch UMLS:C0393576 ; biolink:category biolink:Disease . OMIM:200610 a owl:Class ; @@ -474956,10 +492273,6 @@ OMIM:200610 a owl:Class ; PMID:8588578, PMID:8599352, PMID:8950678 ; - oboInOwl:hasDbXref UMLS:C0220685, - ORPHA:932, - ORPHA:93296, - ORPHA:93297 ; oboInOwl:hasExactSynonym "ACG2", "achondrogenesis, iia 2", "achondrogenesis, iia ib, formerly", @@ -474967,6 +492280,10 @@ OMIM:200610 a owl:Class ; "chondrogenesis imperfecta", "hypochondrogenesis" ; rdfs:subClassOf OMIMPS:200600 ; + skos:exactMatch UMLS:C0220685, + ORPHA:932, + ORPHA:93296, + ORPHA:93297 ; biolink:category biolink:Disease . OMIM:201475 a owl:Class ; @@ -475000,10 +492317,10 @@ OMIM:201475 a owl:Class ; PMID:9709714, PMID:9877038, PMID:9973285 ; - oboInOwl:hasDbXref UMLS:C3887523 ; oboInOwl:hasExactSynonym "ACADVLD", "acyl-coa dehydrogenase, very long-chain, deficiency of", "vlcad deficiency" ; + skos:exactMatch UMLS:C3887523 ; biolink:category biolink:Disease . OMIM:201910 a owl:Class ; @@ -475165,15 +492482,15 @@ OMIM:201910 a owl:Class ; PMID:9829208, PMID:9851787, PMID:9920112 ; - oboInOwl:hasDbXref UMLS:C2936858, - ORPHA:418, - ORPHA:90794 ; oboInOwl:hasExactSynonym "21-hydroxylase deficiency", "adrenal hyperplasia 3", "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency", "congenital adrenal hyperplasia 1", "cyp21 deficiency", "hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency" ; + skos:exactMatch UMLS:C2936858, + ORPHA:418, + ORPHA:90794 ; biolink:category biolink:Disease . OMIM:202200 a owl:Class ; @@ -475197,13 +492514,13 @@ OMIM:202200 a owl:Class ; PMID:8094489, PMID:8227361, PMID:9768670 ; - oboInOwl:hasDbXref UMLS:C4049650 ; oboInOwl:hasExactSynonym "GCCD1", "acth resistance", "adrenal unresponsiveness to acth", "familial glucocorticoid deficiency 1", "glucocorticoid deficiency 1" ; rdfs:subClassOf OMIMPS:202200 ; + skos:exactMatch UMLS:C4049650 ; biolink:category biolink:Disease . OMIM:202400 a owl:Class ; @@ -475225,9 +492542,9 @@ OMIM:202400 a owl:Class ; PMID:7740487, PMID:855840, PMID:9916133 ; - oboInOwl:hasDbXref UMLS:C2584774 ; oboInOwl:hasExactSynonym "afibrinogenemia, congenital", "hypofibrinogenemia, congenital" ; + skos:exactMatch UMLS:C2584774 ; biolink:category biolink:Disease . OMIM:204650 a owl:Class ; @@ -475236,12 +492553,12 @@ OMIM:204650 a owl:Class ; PMID:284277, PMID:3925102, PMID:6960709 ; - oboInOwl:hasDbXref UMLS:C2673923 ; oboInOwl:hasExactSynonym "AI1C", "amelogenesis imperfecta, iia 1c", "amelogenesis imperfecta, hypoplastic, with or without open-bite malocclusion, autosomal recessive", "amelogenesis imperfecta, local hypoplastic type, autosomal recessive" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C2673923 ; biolink:category biolink:Disease . OMIM:204690 a owl:Class ; @@ -475260,7 +492577,6 @@ OMIM:204690 a owl:Class ; PMID:4504766, PMID:7600222, PMID:9870488 ; - oboInOwl:hasDbXref UMLS:C2931783 ; oboInOwl:hasExactSynonym "AI1G", "amelogenesis imperfecta and gingival fibromatosis syndrome", "amelogenesis imperfecta, iia 1g", @@ -475268,6 +492584,7 @@ OMIM:204690 a owl:Class ; "enamel-renal syndrome", "enamel-renal-gingival syndrome" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C2931783 ; biolink:category biolink:Disease . OMIM:204750 a owl:Class ; @@ -475279,11 +492596,11 @@ OMIM:204750 a owl:Class ; PMID:4442872, PMID:6434826, PMID:6772026 ; - oboInOwl:hasDbXref UMLS:C1859817 ; oboInOwl:hasExactSynonym "2-aminoadipic 2-oxoadipic aciduria", "2-ketoadipic aciduria", "AAKAD", "alpha-aminoadipic and alpha-ketoadipic aciduria" ; + skos:exactMatch UMLS:C1859817 ; biolink:category biolink:Disease . OMIM:206900 a owl:Class ; @@ -475321,8 +492638,6 @@ OMIM:206900 a owl:Class ; PMID:8708919, PMID:8741917, PMID:9128938 ; - oboInOwl:hasDbXref UMLS:C1859773, - UMLS:C1859774 ; oboInOwl:hasExactSynonym "MCOPS3", "aeg syndrome", "anophthalmia, clinical, with associated anomalies", @@ -475331,6 +492646,8 @@ OMIM:206900 a owl:Class ; "microphthalmia, syndromic 3", "optic nerve hypoplasia and abnormalities of the central nervous system" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C1859773, + UMLS:C1859774 ; biolink:category biolink:Disease . OMIM:208085 a owl:Class ; @@ -475347,12 +492664,12 @@ OMIM:208085 a owl:Class ; PMID:762621, PMID:8151641, PMID:8529684 ; - oboInOwl:hasDbXref UMLS:C1859722, - UMLS:C4551984 ; oboInOwl:hasExactSynonym "ARCS1", "arc syndrome", "arthrogryposis, renal dysfunction, and cholestasis 1" ; rdfs:subClassOf OMIMPS:208085 ; + skos:exactMatch UMLS:C1859722, + UMLS:C4551984 ; biolink:category biolink:Disease . OMIM:208550 a owl:Class ; @@ -475366,13 +492683,13 @@ OMIM:208550 a owl:Class ; PMID:5155528, PMID:9393345, PMID:9466979 ; - oboInOwl:hasDbXref UMLS:C1858067, - UMLS:C1859648, - UMLS:C1876174 ; oboInOwl:hasExactSynonym "asa triad", "asthma and nasal polyps", "asthma, aspirin-induced, susceptibility to", "asthma, nasal polyps, and aspirin intolerance" ; + skos:exactMatch UMLS:C1858067, + UMLS:C1859648, + UMLS:C1876174 ; biolink:category biolink:Disease . OMIM:210600 a owl:Class ; @@ -475397,8 +492714,6 @@ OMIM:210600 a owl:Class ; PMID:8182723, PMID:8358044, PMID:9128935 ; - oboInOwl:hasDbXref UMLS:C4551474, - ORPHA:808 ; oboInOwl:hasExactSynonym "SCKL1", "bird-headed dwarfism", "microcephalic primordial dwarfism 1", @@ -475407,6 +492722,8 @@ OMIM:210600 a owl:Class ; "seckel syndrome 1", "seckel-type dwarfism" ; rdfs:subClassOf OMIMPS:210600 ; + skos:exactMatch UMLS:C4551474, + ORPHA:808 ; biolink:category biolink:Disease . OMIM:212066 a owl:Class ; @@ -475426,8 +492743,6 @@ OMIM:212066 a owl:Class ; PMID:8127054, PMID:8286854, PMID:8808595 ; - oboInOwl:hasDbXref UMLS:C2931008, - ORPHA:79329 ; oboInOwl:hasExactSynonym "CDG2A", "alkuraya syndrome", "carbohydrate-deficient glycoprotein syndrome, iia ii, formerly", @@ -475435,6 +492750,8 @@ OMIM:212066 a owl:Class ; "congenital disorder of glycosylation, iia iia", "mental retardation, growth retardation, prominent columella, and open mouth" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C2931008, + ORPHA:79329 ; biolink:category biolink:Disease . OMIM:212350 a owl:Class ; @@ -475450,11 +492767,11 @@ OMIM:212350 a owl:Class ; PMID:3789054, PMID:8892026, PMID:9185510 ; - oboInOwl:hasDbXref UMLS:C1859317 ; oboInOwl:hasExactSynonym "cardiomyopathy and cataract", "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)", "sengers syndrome" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C1859317 ; biolink:category biolink:Disease . OMIM:213980 a owl:Class ; @@ -475469,11 +492786,11 @@ OMIM:213980 a owl:Class ; PMID:30556256, PMID:31102500, PMID:8669442 ; - oboInOwl:hasDbXref UMLS:C1859252, - ORPHA:1394 ; oboInOwl:hasExactSynonym "CFSMR", "cerebrofaciothoracic dysplasia", "craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome" ; + skos:exactMatch UMLS:C1859252, + ORPHA:1394 ; biolink:category biolink:Disease . OMIM:214400 a owl:Class ; @@ -475485,13 +492802,13 @@ OMIM:214400 a owl:Class ; PMID:5365950, PMID:8268915, PMID:9933296 ; - oboInOwl:hasDbXref UMLS:C1859198, - ORPHA:99948 ; oboInOwl:hasExactSynonym "CMT4A", "charcot-marie-tooth disease, iia 4a", "charcot-marie-tooth disease, demyelinating, autosomal recessive, iia 4a", "charcot-marie-tooth neuropathy, iia 4a" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1859198, + ORPHA:99948 ; biolink:category biolink:Disease . OMIM:214950 a owl:Class ; @@ -475503,12 +492820,12 @@ OMIM:214950 a owl:Class ; PMID:12512044, PMID:5064535, PMID:9584266 ; - oboInOwl:hasDbXref UMLS:C1858328 ; oboInOwl:hasExactSynonym "CBAS4", "bile acid synthesis defect, congenital, 4", "cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid", "trihydroxycoprostanic acid 1n bile" ; rdfs:subClassOf OMIMPS:607765 ; + skos:exactMatch UMLS:C1858328 ; biolink:category biolink:Disease . OMIM:215600 a owl:Class ; @@ -475531,13 +492848,6 @@ OMIM:215600 a owl:Class ; PMID:8622397, PMID:8996425, PMID:9887382 ; - oboInOwl:hasDbXref UMLS:C0267809, - UMLS:C0268074, - UMLS:C1835713, - UMLS:C1859088, - UMLS:C1861556, - UMLS:C1876165, - UMLS:C1876166 ; oboInOwl:hasExactSynonym "cirrhosis, cryptogenic", "cirrhosis, familial", "cirrhosis, familial, with pulmonary hypertension", @@ -475547,6 +492857,13 @@ OMIM:215600 a owl:Class ; "endemic tyrolean infantile cirrhosis", "indian childhood cirrhosis", "sen syndrome" ; + skos:exactMatch UMLS:C0267809, + UMLS:C0268074, + UMLS:C1835713, + UMLS:C1859088, + UMLS:C1861556, + UMLS:C1876165, + UMLS:C1876166 ; biolink:category biolink:Disease . OMIM:216550 a owl:Class ; @@ -475607,14 +492924,14 @@ OMIM:216550 a owl:Class ; PMID:9359041, PMID:9556296, PMID:9825573 ; - oboInOwl:hasDbXref UMLS:C0265223, - ORPHA:193 ; oboInOwl:hasExactSynonym "COH1", "chs1, formerly", "coh", "cohen syndrome", "hypotonia, obesity, and prominent incisors", "pepper syndrome" ; + skos:exactMatch UMLS:C0265223, + ORPHA:193 ; biolink:category biolink:Disease . OMIM:218030 a owl:Class ; @@ -475635,11 +492952,11 @@ OMIM:218030 a owl:Class ; PMID:870517, PMID:9683587, PMID:9707624 ; - oboInOwl:hasDbXref UMLS:C3887949 ; oboInOwl:hasExactSynonym "AME", "ame1", "apparent mineralocorticoid excess", "cortisol 11-beta-ketoreductase deficiency" ; + skos:exactMatch UMLS:C3887949 ; biolink:category biolink:Disease . OMIM:218340 a owl:Class ; @@ -475654,10 +492971,10 @@ OMIM:218340 a owl:Class ; PMID:23633300, PMID:24798461, PMID:8818452 ; - oboInOwl:hasDbXref UMLS:C1857512 ; oboInOwl:hasExactSynonym "TEMTYS", "mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum", "temtamy syndrome" ; + skos:exactMatch UMLS:C1857512 ; biolink:category biolink:Disease . OMIM:219700 a owl:Class ; @@ -475946,11 +493263,11 @@ OMIM:219700 a owl:Class ; PMID:9725922, PMID:9875854, PMID:9950364 ; - oboInOwl:hasDbXref UMLS:C0010674, - ORPHA:586 ; oboInOwl:hasExactSynonym "CF", "cystic fibrosis", "mucoviscidosis" ; + skos:exactMatch UMLS:C0010674, + ORPHA:586 ; biolink:category biolink:Disease . OMIM:222448 a owl:Class ; @@ -475965,11 +493282,11 @@ OMIM:222448 a owl:Class ; PMID:9021018, PMID:9066882, PMID:9475100 ; - oboInOwl:hasDbXref UMLS:C1857277 ; oboInOwl:hasExactSynonym "dbs/foar syndrome", "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria", "donnai-barrow syndrome", "faciooculoacousticorenal syndrome" ; + skos:exactMatch UMLS:C1857277 ; biolink:category biolink:Disease . OMIM:223000 a owl:Class ; @@ -475988,10 +493305,10 @@ OMIM:223000 a owl:Class ; PMID:7416780, PMID:759181, PMID:9758622 ; - oboInOwl:hasDbXref UMLS:C0268179 ; oboInOwl:hasExactSynonym "alactasia, congenital", "disaccharide intolerance 2", "lactase deficiency, congenital" ; + skos:exactMatch UMLS:C0268179 ; biolink:category biolink:Disease . OMIM:225400 a owl:Class ; @@ -476022,7 +493339,6 @@ OMIM:225400 a owl:Class ; PMID:9508068, PMID:9557891, PMID:9686670 ; - oboInOwl:hasDbXref UMLS:C0268342 ; oboInOwl:hasExactSynonym "EDSKSCL1", "eds 6", "ehlers-danlos syndrome, iia 6", @@ -476031,6 +493347,7 @@ OMIM:225400 a owl:Class ; "ehlers-danlos syndrome, ocular-scoliotic iia", "nevo syndrome" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C0268342 ; biolink:category biolink:Disease . OMIM:225500 a owl:Class ; @@ -476070,12 +493387,12 @@ OMIM:225500 a owl:Class ; PMID:8882877, PMID:8960501, PMID:9399901 ; - oboInOwl:hasDbXref UMLS:C0013903 ; oboInOwl:hasExactSynonym "EVC", "chondroectodermal dysplasia", "ellis-van creveld syndrome", "mesoectodermal dysplasia" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C0013903 ; biolink:category biolink:Disease . OMIM:225750 a owl:Class ; @@ -476107,8 +493424,6 @@ OMIM:225750 a owl:Class ; PMID:9706629, PMID:9794439, PMID:9851434 ; - oboInOwl:hasDbXref UMLS:C0796126, - UMLS:C3150315 ; oboInOwl:hasExactSynonym "AGS1", "ags", "aicardi-goutieres syndrome 1", @@ -476117,6 +493432,8 @@ OMIM:225750 a owl:Class ; "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis", "pseudotoxoplasmosis syndrome" ; rdfs:subClassOf OMIMPS:225750 ; + skos:exactMatch UMLS:C0796126, + UMLS:C3150315 ; biolink:category biolink:Disease . OMIM:226600 a owl:Class ; @@ -476172,9 +493489,6 @@ OMIM:226600 a owl:Class ; PMID:8644729, PMID:871388, PMID:8915155 ; - oboInOwl:hasDbXref UMLS:C0079474, - UMLS:C2673611, - UMLS:C2673612 ; oboInOwl:hasExactSynonym "RDEB", "dystrophic epidermolysis bullosa, autosomal recessive", "epidermolysis bullosa dystrophica inversa, autosomal recessive", @@ -476182,6 +493496,9 @@ OMIM:226600 a owl:Class ; "epidermolysis bullosa dystrophica, autosomal recessive, localisata variant", "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive", "epidermolysis bullosa dystrophica, hallopeau-siemens iia" ; + skos:exactMatch UMLS:C0079474, + UMLS:C2673611, + UMLS:C2673612 ; biolink:category biolink:Disease . OMIM:226990 a owl:Class ; @@ -476190,13 +493507,13 @@ OMIM:226990 a owl:Class ; PMID:27893462, PMID:6279813, PMID:6318944 ; - oboInOwl:hasDbXref UMLS:C4016741 ; oboInOwl:hasExactSynonym "IMD32B", "epstein-barr virus, susceptibility to chronic infection by", "immunodeficiency 32b", "immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive", "irf8 deficiency, autosomal recessive" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4016741 ; biolink:category biolink:Disease . OMIM:227220 a owl:Class ; @@ -476222,7 +493539,6 @@ OMIM:227220 a owl:Class ; PMID:3568446, PMID:8875191, PMID:9453695 ; - oboInOwl:hasDbXref UMLS:C1856895 ; oboInOwl:hasExactSynonym "SHEP1", "brown eye color 2", "eye color 3", @@ -476234,6 +493550,7 @@ OMIM:227220 a owl:Class ; "skin/hair/eye pigmentation 1, blue/nonblue eyes", "skin/hair/eye pigmentation, variation in, 1" ; rdfs:subClassOf OMIMPS:227220 ; + skos:exactMatch UMLS:C1856895 ; biolink:category biolink:Disease . OMIM:227600 a owl:Class ; @@ -476280,10 +493597,10 @@ OMIM:227600 a owl:Class ; PMID:9198147, PMID:9683596, PMID:9695984 ; - oboInOwl:hasDbXref UMLS:C0015519 ; oboInOwl:hasExactSynonym "f10 deficiency", "factor 10 deficiency", "stuart-prower factor deficiency" ; + skos:exactMatch UMLS:C0015519 ; biolink:category biolink:Disease . OMIM:228600 a owl:Class ; @@ -476306,10 +493623,10 @@ OMIM:228600 a owl:Class ; PMID:7260846, PMID:86330, PMID:9487969 ; - oboInOwl:hasDbXref UMLS:C2745948 ; oboInOwl:hasExactSynonym "HFS", "hyaline fibromatosis syndrome", "hyalinosis, systemic" ; + skos:exactMatch UMLS:C2745948 ; biolink:category biolink:Disease . OMIM:229200 a owl:Class ; @@ -476333,7 +493650,6 @@ OMIM:229200 a owl:Class ; PMID:5775573, PMID:7387950, PMID:962660 ; - oboInOwl:hasDbXref UMLS:C0268344 ; oboInOwl:hasExactSynonym "BCS1", "brittle cornea syndrome 1", "corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility", @@ -476342,6 +493658,7 @@ OMIM:229200 a owl:Class ; "fragilitas oculi with joint hyperextensibility" ; rdfs:subClassOf OMIMPS:130000, OMIMPS:229200 ; + skos:exactMatch UMLS:C0268344 ; biolink:category biolink:Disease . OMIM:231200 a owl:Class ; @@ -476373,11 +493690,6 @@ OMIM:231200 a owl:Class ; PMID:8772211, PMID:9116284, PMID:9616133 ; - oboInOwl:hasDbXref UMLS:C0005129, - UMLS:C1856447, - UMLS:C1856448, - UMLS:C2713537, - UMLS:C3278148 ; oboInOwl:hasExactSynonym "BSS", "bernard-soulier syndrome", "bernard-soulier syndrome, iia B", @@ -476388,6 +493700,11 @@ OMIM:231200 a owl:Class ; "platelet glycoprotein ib deficiency", "von willebrand factor receptor deficiency" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C0005129, + UMLS:C1856447, + UMLS:C1856448, + UMLS:C2713537, + UMLS:C3278148 ; biolink:category biolink:Disease . OMIM:231300 a owl:Class ; @@ -476423,16 +493740,16 @@ OMIM:231300 a owl:Class ; PMID:9097971, PMID:9463332, PMID:9463798 ; - oboInOwl:hasDbXref UMLS:C0020302, - UMLS:C1856439, - UMLS:C3278152, - UMLS:C3278153 ; oboInOwl:hasExactSynonym "GLC3A", "buphthalmos", "glaucoma 3, primary congenital, a", "glaucoma, congenital", "glaucoma, primary open angle, adult-onset", "glaucoma, primary open angle, juvenile-onset" ; + skos:exactMatch UMLS:C0020302, + UMLS:C1856439, + UMLS:C3278152, + UMLS:C3278153 ; biolink:category biolink:Disease . OMIM:231550 a owl:Class ; @@ -476462,7 +493779,6 @@ OMIM:231550 a owl:Class ; PMID:8757578, PMID:8968764, PMID:9285947 ; - oboInOwl:hasDbXref UMLS:C0271742 ; oboInOwl:hasExactSynonym "AAAS", "achalasia-addisonianism-alacrima syndrome", "achalasia-alacrima syndrome", @@ -476474,6 +493790,7 @@ OMIM:231550 a owl:Class ; "glucocorticoid deficiency and achalasia", "hypoadrenalism with achalasia", "triple-a syndrome" ; + skos:exactMatch UMLS:C0271742 ; biolink:category biolink:Disease . OMIM:232200 a owl:Class ; @@ -476541,9 +493858,6 @@ OMIM:232200 a owl:Class ; PMID:9332655, PMID:9427147, PMID:9435446 ; - oboInOwl:hasDbXref UMLS:C2919796, - ORPHA:364, - ORPHA:79258 ; oboInOwl:hasExactSynonym "GSD1A", "glucose-6-phosphatase deficiency", "glycogen storage disease 1", @@ -476552,6 +493866,9 @@ OMIM:232200 a owl:Class ; "hepatorenal form of glycogen storage disease", "hepatorenal glycogenosis", "von gierke disease" ; + skos:exactMatch UMLS:C2919796, + ORPHA:364, + ORPHA:79258 ; biolink:category biolink:Disease . OMIM:232600 a owl:Class ; @@ -476597,7 +493914,6 @@ OMIM:232600 a owl:Class ; PMID:6938778, PMID:8316268, PMID:8408630 ; - oboInOwl:hasDbXref UMLS:C0017924 ; oboInOwl:hasExactSynonym "GSD5", "glycogen storage disease 5", "gsd 5", @@ -476605,6 +493921,7 @@ OMIM:232600 a owl:Class ; "muscle glycogen phosphorylase deficiency", "myophosphorylase deficiency", "pygm deficiency" ; + skos:exactMatch UMLS:C0017924 ; biolink:category biolink:Disease . OMIM:233700 a owl:Class ; @@ -476646,8 +493963,6 @@ OMIM:233700 a owl:Class ; PMID:8395049, PMID:9116268, PMID:9329953 ; - oboInOwl:hasDbXref UMLS:C1856251, - ORPHA:379 ; oboInOwl:hasExactSynonym "CGD1", "cgd, autosomal recessive cytochrome b-positive, iia 1", "granulomatous disease, chronic, autosomal recessive, 1", @@ -476659,6 +493974,8 @@ OMIM:233700 a owl:Class ; "soc2 deficiency", "soluble oxidase component 2 deficiency" ; rdfs:subClassOf OMIMPS:306400 ; + skos:exactMatch UMLS:C1856251, + ORPHA:379 ; biolink:category biolink:Disease . OMIM:234050 a owl:Class ; @@ -476679,9 +493996,6 @@ OMIM:234050 a owl:Class ; PMID:7458366, PMID:9764166, PMID:984047 ; - oboInOwl:hasDbXref UMLS:C1313961, - UMLS:C3495483, - UMLS:C4083251 ; oboInOwl:hasExactSynonym "TTD4", "amish brittle hair brain syndrome", "bids syndrome", @@ -476691,6 +494005,9 @@ OMIM:234050 a owl:Class ; "trichothiodystrophy, nonphotosensitive 1", "trichothiodystrophy-neurocutaneous syndrome" ; rdfs:subClassOf OMIMPS:601675 ; + skos:exactMatch UMLS:C1313961, + UMLS:C3495483, + UMLS:C4083251 ; biolink:category biolink:Disease . OMIM:237450 a owl:Class ; @@ -476700,11 +494017,11 @@ OMIM:237450 a owl:Class ; PMID:6024890, PMID:766621, PMID:850521 ; - oboInOwl:hasDbXref UMLS:C0220991 ; oboInOwl:hasExactSynonym "HBLRR", "hyperbilirubinemia, rotor iia", "rotor syndrome" ; rdfs:subClassOf OMIMPS:237450 ; + skos:exactMatch UMLS:C0220991 ; biolink:category biolink:Disease . OMIM:238700 a owl:Class ; @@ -476725,13 +494042,13 @@ OMIM:238700 a owl:Class ; PMID:6407303, PMID:6434529, PMID:934735 ; - oboInOwl:hasDbXref UMLS:C0543533, - ORPHA:2203 ; oboInOwl:hasExactSynonym "alpha-aminoadipic semialdehyde synthase deficiency", "hyperlysinemia, iia 1", "l-lysine:nad-oxido-reductase deficiency", "lysine intolerance", "lysine:alpha-ketoglutarate reductase deficiency" ; + skos:exactMatch UMLS:C0543533, + ORPHA:2203 ; biolink:category biolink:Disease . OMIM:240300 a owl:Class ; @@ -476793,9 +494110,6 @@ OMIM:240300 a owl:Class ; PMID:9717837, PMID:9837820, PMID:9856486 ; - oboInOwl:hasDbXref UMLS:C0085859, - UMLS:C1855868, - UMLS:C1855869 ; oboInOwl:hasExactSynonym "APS1", "aps 1", "autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia", @@ -476806,6 +494120,9 @@ OMIM:240300 a owl:Class ; "pga 1", "polyglandular autoimmune syndrome, iia 1", "polyglandular deficiency syndrome, persian-jewish iia" ; + skos:exactMatch UMLS:C0085859, + UMLS:C1855868, + UMLS:C1855869 ; biolink:category biolink:Disease . OMIM:241080 a owl:Class ; @@ -476820,11 +494137,11 @@ OMIM:241080 a owl:Class ; PMID:21044051, PMID:6876115, PMID:8779325 ; - oboInOwl:hasDbXref UMLS:C0342286 ; oboInOwl:hasExactSynonym "WDSKS", "extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia", "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome", "woodhouse-sakati syndrome" ; + skos:exactMatch UMLS:C0342286 ; biolink:category biolink:Disease . OMIM:241200 a owl:Class ; @@ -476847,12 +494164,12 @@ OMIM:241200 a owl:Class ; PMID:8892027, PMID:9002665, PMID:9326936 ; - oboInOwl:hasDbXref UMLS:C1855849 ; oboInOwl:hasExactSynonym "BARTS2", "bartter syndrome, iia 2, antenatal", "hyperprostaglandin e syndrome 2", "hypokalemic alkalosis with hypercalciuria 2, antenatal" ; rdfs:subClassOf OMIMPS:601678 ; + skos:exactMatch UMLS:C1855849 ; biolink:category biolink:Disease . OMIM:242860 a owl:Class ; @@ -476897,14 +494214,14 @@ OMIM:242860 a owl:Class ; PMID:9187666, PMID:9718351, PMID:9783707 ; - oboInOwl:hasDbXref UMLS:C0398788, - UMLS:C4551557 ; oboInOwl:hasExactSynonym "ICF1", "centromeric instability, immunodeficiency syndrome", "immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16", "immunodeficiency syndrome, variable", "immunodeficiency-centromeric instability-facial anomalies syndrome 1" ; rdfs:subClassOf OMIMPS:242860 ; + skos:exactMatch UMLS:C0398788, + UMLS:C4551557 ; biolink:category biolink:Disease . OMIM:243605 a owl:Class ; @@ -476918,12 +494235,12 @@ OMIM:243605 a owl:Class ; PMID:8261651, PMID:9001813, PMID:9298751 ; - oboInOwl:hasDbXref UMLS:C1855705 ; oboInOwl:hasExactSynonym "STROMS", "apple peel syndrome with microcephaly and ocular anomalies", "ciliary dyskinesia, primary, 31, formerly", "jejunal atresia with microcephaly and ocular anomalies", "stromme syndrome" ; + skos:exactMatch UMLS:C1855705 ; biolink:category biolink:Disease . OMIM:243800 a owl:Class ; @@ -476952,10 +494269,10 @@ OMIM:243800 a owl:Class ; PMID:7341643, PMID:8448911, PMID:978327 ; - oboInOwl:hasDbXref UMLS:C0175692 ; oboInOwl:hasExactSynonym "JBS", "johanson-blizzard syndrome", "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness" ; + skos:exactMatch UMLS:C0175692 ; biolink:category biolink:Disease . OMIM:244400 a owl:Class ; @@ -477043,11 +494360,6 @@ OMIM:244400 a owl:Class ; PMID:9797091, PMID:9915976, PMID:9934981 ; - oboInOwl:hasDbXref UMLS:C4317124, - UMLS:C4551720, - UMLS:C4551906, - ORPHA:244, - ORPHA:98861 ; oboInOwl:hasExactSynonym "CILD1", "ciliary dyskinesia, primary, 1", "ciliary dyskinesia, primary, 1, with or without situs inversus", @@ -477058,6 +494370,11 @@ OMIM:244400 a owl:Class ; "polynesian bronchiectasis", "siewert syndrome" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C4317124, + UMLS:C4551720, + UMLS:C4551906, + ORPHA:244, + ORPHA:98861 ; biolink:category biolink:Disease . OMIM:244450 a owl:Class ; @@ -477071,10 +494388,10 @@ OMIM:244450 a owl:Class ; PMID:5006210, PMID:7573151, PMID:8275567 ; - oboInOwl:hasDbXref UMLS:C1855663 ; oboInOwl:hasExactSynonym "KOS", "blepharophimosis-ptosis-intellectual disability syndrome", "kaufman oculocerebrofacial syndrome" ; + skos:exactMatch UMLS:C1855663 ; biolink:category biolink:Disease . OMIM:249420 a owl:Class ; @@ -477093,12 +494410,12 @@ OMIM:249420 a owl:Class ; PMID:8723560, PMID:9188664, PMID:9375925 ; - oboInOwl:hasDbXref UMLS:C1855305 ; oboInOwl:hasExactSynonym "FTHS", "borrone dermatocardioskeletal syndrome", "frank-ter haar syndrome", "melnick-needles syndrome, autosomal recessive, formerly", "ter haar syndrome" ; + skos:exactMatch UMLS:C1855305 ; biolink:category biolink:Disease . OMIM:250790 a owl:Class ; @@ -477109,12 +494426,12 @@ OMIM:250790 a owl:Class ; PMID:3951508, PMID:4324110, PMID:8168836 ; - oboInOwl:hasDbXref UMLS:C4285231 ; oboInOwl:hasExactSynonym "METAG", "isolated 17,20-lyase deficiency, pure", "methemoglobinemia iia iv, formerly", "methemoglobinemia and ambiguous genitalia", "methemoglobinemia due to deficiency of cytochrome b5, formerly" ; + skos:exactMatch UMLS:C4285231 ; biolink:category biolink:Disease . OMIM:251260 a owl:Class ; @@ -477149,8 +494466,6 @@ OMIM:251260 a owl:Class ; PMID:9590180, PMID:9590181, PMID:9634525 ; - oboInOwl:hasDbXref UMLS:C0398791, - UMLS:C1855057 ; oboInOwl:hasExactSynonym "NBS", "ataxia-telangiectasia variant v1", "ataxia-telangiectasia variant v2", @@ -477160,6 +494475,8 @@ OMIM:251260 a owl:Class ; "nijmegen breakage syndrome", "nonsyndromal microcephaly, autosomal recessive, with normal intelligence", "seemanova syndrome 2" ; + skos:exactMatch UMLS:C0398791, + UMLS:C1855057 ; biolink:category biolink:Disease . OMIM:251290 a owl:Class ; @@ -477176,14 +494493,14 @@ OMIM:251290 a owl:Class ; PMID:6876113, PMID:7977464, PMID:9112011 ; - oboInOwl:hasDbXref UMLS:C3489725, - UMLS:C4552078, - ORPHA:1229 ; oboInOwl:hasExactSynonym "PTORCH1", "band-like calcification with simplified gyration and polymicrogyria", "pseudo-torch syndrome", "pseudo-torch syndrome 1" ; rdfs:subClassOf OMIMPS:251290 ; + skos:exactMatch UMLS:C3489725, + UMLS:C4552078, + ORPHA:1229 ; biolink:category biolink:Disease . OMIM:251300 a owl:Class ; @@ -477205,8 +494522,6 @@ OMIM:251300 a owl:Class ; PMID:8213914, PMID:8533826, PMID:9098497 ; - oboInOwl:hasDbXref UMLS:C0795949, - UMLS:C4551772 ; oboInOwl:hasExactSynonym "GAMOS1", "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities", "galloway syndrome", @@ -477216,6 +494531,8 @@ OMIM:251300 a owl:Class ; "nephrosis-neuronal dysmigration syndrome", "spinocerebellar ataxia, autosomal recessive 5, formerly" ; rdfs:subClassOf OMIMPS:251300 ; + skos:exactMatch UMLS:C0795949, + UMLS:C4551772 ; biolink:category biolink:Disease . OMIM:252010 a owl:Class ; @@ -477257,9 +494574,6 @@ OMIM:252010 a owl:Class ; PMID:947896, PMID:9593934, PMID:9683589 ; - oboInOwl:hasDbXref UMLS:C1838979, - ORPHA:255241, - ORPHA:2609 ; oboInOwl:hasExactSynonym "MC1DN1", "mitochondrial NADH dehydrogenase component of complex i, deficiency of", "mitochondrial complex 1 deficiency", @@ -477267,6 +494581,9 @@ OMIM:252010 a owl:Class ; "nadh-coenzyme q reductase deficiency", "nadh:q(1) oxidoreductase deficiency" ; rdfs:subClassOf OMIMPS:252010 ; + skos:exactMatch UMLS:C1838979, + ORPHA:255241, + ORPHA:2609 ; biolink:category biolink:Disease . OMIM:253200 a owl:Class ; @@ -477315,8 +494632,6 @@ OMIM:253200 a owl:Class ; PMID:804893, PMID:8651289, PMID:9514506 ; - oboInOwl:hasDbXref UMLS:C0026709, - ORPHA:583 ; oboInOwl:hasExactSynonym "MPS6", "arsb deficiency", "arylsulfatase B deficiency", @@ -477325,6 +494640,8 @@ OMIM:253200 a owl:Class ; "mucopolysaccharidosis, iia 6", "n-acetylgalactosamine-4-sulfatase deficiency" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C0026709, + ORPHA:583 ; biolink:category biolink:Disease . OMIM:253600 a owl:Class ; @@ -477381,8 +494698,6 @@ OMIM:253600 a owl:Class ; PMID:8929943, PMID:8940289, PMID:9762961 ; - oboInOwl:hasDbXref UMLS:C1869123, - ORPHA:267 ; oboInOwl:hasExactSynonym "LGMDR1", "calpainopathy", "leyden-moebius muscular dystrophy", @@ -477392,6 +494707,8 @@ OMIM:253600 a owl:Class ; "muscular dystrophy, pelvofemoral", "myositis, eosinophilic" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C1869123, + ORPHA:267 ; biolink:category biolink:Disease . OMIM:254110 a owl:Class ; @@ -477412,14 +494729,14 @@ OMIM:254110 a owl:Class ; PMID:4269389, PMID:9332671, PMID:9634523 ; - oboInOwl:hasDbXref UMLS:C0270968, - ORPHA:1878 ; oboInOwl:hasExactSynonym "LGMDR8", "muscular dystrophy, hutterite iia", "muscular dystrophy, limb-girdle, iia 2h", "muscular dystrophy, limb-girdle, autosomal recessive 8", "sarcotubular myopathy" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C0270968, + ORPHA:1878 ; biolink:category biolink:Disease . OMIM:254770 a owl:Class ; @@ -477442,8 +494759,6 @@ OMIM:254770 a owl:Class ; PMID:8352275, PMID:8737649, PMID:8751867 ; - oboInOwl:hasDbXref UMLS:C0270853, - UMLS:C1850778 ; oboInOwl:hasExactSynonym "EJM", "epilepsy, myoclonic juvenile", "janz syndrome", @@ -477451,6 +494766,8 @@ OMIM:254770 a owl:Class ; "myoclonic epilepsy, juvenile, susceptibility to, 1", "petit mal, impulsive" ; rdfs:subClassOf OMIMPS:254770 ; + skos:exactMatch UMLS:C0270853, + UMLS:C1850778 ; biolink:category biolink:Disease . OMIM:254780 a owl:Class ; @@ -477488,9 +494805,6 @@ OMIM:254780 a owl:Class ; PMID:9345091, PMID:9771710, PMID:9931343 ; - oboInOwl:hasDbXref UMLS:C0751783, - UMLS:C1850764, - ORPHA:501 ; oboInOwl:hasExactSynonym "epilepsy, progressive myoclonic, 2a", "epilepsy, progressive myoclonic, 2b", "epm2", @@ -477499,6 +494813,9 @@ OMIM:254780 a owl:Class ; "melf", "myoclonic epilepsy of lafora" ; rdfs:subClassOf OMIMPS:254800 ; + skos:exactMatch UMLS:C0751783, + UMLS:C1850764, + ORPHA:501 ; biolink:category biolink:Disease . OMIM:255500 a owl:Class ; @@ -477508,10 +494825,10 @@ OMIM:255500 a owl:Class ; PMID:19204786, PMID:20316625 ; RO:0002525 CHR:9606chr14q22.1-q24.2 ; - oboInOwl:hasDbXref UMLS:C2749509 ; oboInOwl:hasExactSynonym "MYP18", "myopia 18, autosomal recessive" ; rdfs:subClassOf OMIMPS:160700 ; + skos:exactMatch UMLS:C2749509 ; biolink:category biolink:Disease . OMIM:256040 a owl:Class ; @@ -477528,9 +494845,6 @@ OMIM:256040 a owl:Class ; PMID:4026345, PMID:6499339, PMID:8495043 ; - oboInOwl:hasDbXref UMLS:C1850568, - UMLS:C4746851, - UMLS:C4749059 ; oboInOwl:hasExactSynonym "PRAAS1", "autoinflammation, lipodystrophy, and dermatosis syndrome", "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome", @@ -477540,6 +494854,9 @@ OMIM:256040 a owl:Class ; "proteasome-associated autoinflammatory syndrome 1", "proteasome-associated autoinflammatory syndrome 1, digenic" ; rdfs:subClassOf OMIMPS:256040 ; + skos:exactMatch UMLS:C1850568, + UMLS:C4746851, + UMLS:C4749059 ; biolink:category biolink:Disease . OMIM:256850 a owl:Class ; @@ -477570,13 +494887,13 @@ OMIM:256850 a owl:Class ; PMID:8072681, PMID:8635201, PMID:9450783 ; - oboInOwl:hasDbXref UMLS:C1850386, - UMLS:C5200933, - ORPHA:643 ; oboInOwl:hasExactSynonym "GAN1", "gan", "giant axonal neuropathy 1, autosomal recessive" ; rdfs:subClassOf OMIMPS:256850 ; + skos:exactMatch UMLS:C1850386, + UMLS:C5200933, + ORPHA:643 ; biolink:category biolink:Disease . OMIM:258315 a owl:Class ; @@ -477594,13 +494911,13 @@ OMIM:258315 a owl:Class ; PMID:8209882, PMID:8533851, PMID:9508243 ; - oboInOwl:hasDbXref UMLS:C1850318 ; oboInOwl:hasExactSynonym "OMOD1", "micromelic dysplasia, congenital, with dislocation of radius", "omodysplasia 1", "omodysplasia, autosomal recessive", "omodysplasia, generalized form" ; rdfs:subClassOf OMIMPS:258315 ; + skos:exactMatch UMLS:C1850318 ; biolink:category biolink:Disease . OMIM:258900 a owl:Class ; @@ -477625,8 +494942,6 @@ OMIM:258900 a owl:Class ; PMID:6828110, PMID:8486364, PMID:9042911 ; - oboInOwl:hasDbXref UMLS:C0268130, - UMLS:C3278622 ; oboInOwl:hasExactSynonym "oprt and odc deficiency", "orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency", "orotic aciduria", @@ -477636,6 +494951,8 @@ OMIM:258900 a owl:Class ; "ump synthase deficiency", "umps deficiency", "uridine monophosphate synthase deficiency" ; + skos:exactMatch UMLS:C0268130, + UMLS:C3278622 ; biolink:category biolink:Disease . OMIM:259600 a owl:Class ; @@ -477655,8 +494972,6 @@ OMIM:259600 a owl:Class ; PMID:5795345, PMID:7325547, PMID:9843039 ; - oboInOwl:hasDbXref UMLS:C1850155, - ORPHA:371428 ; oboInOwl:hasExactSynonym "MONA", "al-aqeel sewairi syndrome", "multicentric osteolysis, nodulosis, and arthropathy", @@ -477665,6 +494980,34 @@ OMIM:259600 a owl:Class ; "osteolysis, hereditary multicentric", "torg syndrome", "torg-winchester syndrome, formerly" ; + skos:exactMatch UMLS:C1850155, + ORPHA:371428 ; + biolink:category biolink:Disease . + +OMIM:259775 a owl:Class ; + rdfs:label "raine syndrome" ; + IAO:0000142 PMID:10482879, + PMID:10826619, + PMID:11446420, + PMID:12868469, + PMID:14564151, + PMID:1468457, + PMID:1642277, + PMID:17924334, + PMID:18000911, + PMID:19250384, + PMID:2020859, + PMID:20825432, + PMID:22582013, + PMID:2614802, + PMID:8598998, + PMID:9450875, + PMID:9714445 ; + oboInOwl:hasExactSynonym "RNS", + "osteomalacia, sclerosing, with cerebral calcification", + "osteosclerotic bone dysplasia, lethal", + "raine syndrome" ; + skos:exactMatch UMLS:C1850106 ; biolink:category biolink:Disease . OMIM:261550 a owl:Class ; @@ -477686,13 +495029,13 @@ OMIM:261550 a owl:Class ; PMID:7686131, PMID:8162013, PMID:8872466 ; - oboInOwl:hasDbXref UMLS:C1849930 ; oboInOwl:hasExactSynonym "PMDS", "female genital ducts 1n otherwise normal male", "hernia uteri inguinale", "persistent mullerian duct syndrome, types 1 and 2", "persistent oviduct syndrome", "pseudohermaphroditism, male internal" ; + skos:exactMatch UMLS:C1849930 ; biolink:category biolink:Disease . OMIM:262300 a owl:Class ; @@ -477708,7 +495051,6 @@ OMIM:262300 a owl:Class ; PMID:25972256, PMID:4192495, PMID:4195805 ; - oboInOwl:hasDbXref UMLS:C1849792 ; oboInOwl:hasExactSynonym "ACHM3", "achm1, formerly", "achromatopsia 3", @@ -477717,6 +495059,7 @@ OMIM:262300 a owl:Class ; "rod monochromacy 1, formerly", "rod monochromatism 1, formerly", "total colorblindness with myopia" ; + skos:exactMatch UMLS:C1849792 ; biolink:category biolink:Disease . OMIM:262700 a owl:Class ; @@ -477725,12 +495068,12 @@ OMIM:262700 a owl:Class ; PMID:17527005, PMID:18073311, PMID:4305958 ; - oboInOwl:hasDbXref UMLS:C2678408 ; oboInOwl:hasExactSynonym "CPHD4", "pituitary hormone deficiency, combined, 4", "pituitary hormone deficiency, combined, with or without cerebellar defects", "short stature, pituitary and cerebellar defects, and small sella turcica" ; rdfs:subClassOf OMIMPS:613038 ; + skos:exactMatch UMLS:C2678408 ; biolink:category biolink:Disease . OMIM:262890 a owl:Class ; @@ -477752,7 +495095,6 @@ OMIM:262890 a owl:Class ; PMID:8608230, PMID:8663431, PMID:9151796 ; - oboInOwl:hasDbXref UMLS:C0796149 ; oboInOwl:hasExactSynonym "SCTS", "bleeding abnormality due to deficiency of platelet binding of factor 10", "bleeding disorder, platelet-type, 7", @@ -477761,6 +495103,7 @@ OMIM:262890 a owl:Class ; "prothrombin conversion defect, familial", "scott syndrome" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C0796149 ; biolink:category biolink:Disease . OMIM:263650 a owl:Class ; @@ -477780,13 +495123,13 @@ OMIM:263650 a owl:Class ; PMID:6720749, PMID:7124793, PMID:9738862 ; - oboInOwl:hasDbXref UMLS:C1849718 ; oboInOwl:hasExactSynonym "BPS1", "bartsocas-papas syndrome 1", "multiple pterygium syndrome, aslan iia", "popliteal pterygium syndrome, bartsocas-papas iia 1", "popliteal pterygium syndrome, lethal iia", "pterygium, popliteal, lethal iia" ; + skos:exactMatch UMLS:C1849718 ; biolink:category biolink:Disease . OMIM:264800 a owl:Class ; @@ -477847,14 +495190,14 @@ OMIM:264800 a owl:Class ; PMID:8413390, PMID:9267806, PMID:9302259 ; - oboInOwl:hasDbXref UMLS:C0033847, - UMLS:C3279392, - UMLS:C3279393 ; oboInOwl:hasExactSynonym "PXE", "gronblad-strandberg syndrome", "pseudoxanthoma elasticum", "pseudoxanthoma elasticum, modifier of severity of", "pxe, modifier of severity of" ; + skos:exactMatch UMLS:C0033847, + UMLS:C3279392, + UMLS:C3279393 ; biolink:category biolink:Disease . OMIM:266265 a owl:Class ; @@ -477879,13 +495222,13 @@ OMIM:266265 a owl:Class ; PMID:8710783, PMID:9616215, PMID:9662431 ; - oboInOwl:hasDbXref UMLS:C0398739 ; oboInOwl:hasExactSynonym "CDG2C", "cdg iic", "congenital disorder of glycosylation, iia iic", "leukocyte adhesion deficiency, iia 2", "rambam-hasharon syndrome" ; rdfs:subClassOf OMIMPS:212066 ; + skos:exactMatch UMLS:C0398739 ; biolink:category biolink:Disease . OMIM:266500 a owl:Class ; @@ -477924,13 +495267,13 @@ OMIM:266500 a owl:Class ; PMID:9221344, PMID:9326939, PMID:9326940 ; - oboInOwl:hasDbXref UMLS:C0034960 ; oboInOwl:hasExactSynonym "hereditary motor and sensory neuropathy 4", "heredopathia atactica polyneuritiformis", "hmsn 4", "phytanic acid oxidase deficiency", "refsum disease, adult, 1", "refsum disease, classic" ; + skos:exactMatch UMLS:C0034960 ; biolink:category biolink:Disease . OMIM:268220 a owl:Class ; @@ -477946,10 +495289,10 @@ OMIM:268220 a owl:Class ; PMID:8098985, PMID:8275086, PMID:8643596 ; - oboInOwl:hasDbXref UMLS:C0206655 ; oboInOwl:hasExactSynonym "RMS2", "rhabdomyosarcoma 2", "rhabdomyosarcoma, alveolar" ; + skos:exactMatch UMLS:C0206655 ; biolink:category biolink:Disease . OMIM:268300 a owl:Class ; @@ -478007,14 +495350,14 @@ OMIM:268300 a owl:Class ; PMID:872834, PMID:9332660, PMID:9788553 ; - oboInOwl:hasDbXref UMLS:C0392475, - ORPHA:3103 ; oboInOwl:hasExactSynonym "RBS", "long bone deficiencies associated with cleft lip-palate", "roberts syndrome", "roberts-sc phocomelia syndrome", "sc phocomelia syndrome", "sc pseudothalidomide syndrome" ; + skos:exactMatch UMLS:C0392475, + ORPHA:3103 ; biolink:category biolink:Disease . OMIM:268400 a owl:Class ; @@ -478044,11 +495387,11 @@ OMIM:268400 a owl:Class ; PMID:7966195, PMID:8436644, PMID:8737976 ; - oboInOwl:hasDbXref UMLS:C0032339 ; oboInOwl:hasExactSynonym "RTS2", "rothmund-thomson syndrome", "rothmund-thomson syndrome, iia 2" ; rdfs:subClassOf OMIMPS:268400 ; + skos:exactMatch UMLS:C0032339 ; biolink:category biolink:Disease . OMIM:269160 a owl:Class ; @@ -478064,8 +495407,8 @@ OMIM:269160 a owl:Class ; PMID:8214352, PMID:8528262, PMID:9359037 ; - oboInOwl:hasDbXref UMLS:C0266484 ; oboInOwl:hasExactSynonym "schizencephaly" ; + skos:exactMatch UMLS:C0266484 ; biolink:category biolink:Disease . OMIM:269880 a owl:Class ; @@ -478087,10 +495430,10 @@ OMIM:269880 a owl:Class ; PMID:8574420, PMID:8669449, PMID:8790109 ; - oboInOwl:hasDbXref UMLS:C0878684 ; oboInOwl:hasExactSynonym "lipodystrophy, partial, with rieger anomaly and short stature", "short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay", "short syndrome" ; + skos:exactMatch UMLS:C0878684 ; biolink:category biolink:Disease . OMIM:270400 a owl:Class ; @@ -478201,7 +495544,6 @@ OMIM:270400 a owl:Class ; PMID:9714006, PMID:9714007, PMID:9880216 ; - oboInOwl:hasDbXref UMLS:C0175694 ; oboInOwl:hasExactSynonym "SLOS", "lethal acrodysgenital syndrome", "polydactyly, sex reversal, renal hypoplasia, and unilobar lung", @@ -478209,6 +495551,7 @@ OMIM:270400 a owl:Class ; "rutledge lethal multiple congenital anomaly syndrome", "slo syndrome", "smith-lemli-opitz syndrome" ; + skos:exactMatch UMLS:C0175694 ; biolink:category biolink:Disease . OMIM:270450 a owl:Class ; @@ -478229,14 +495572,14 @@ OMIM:270450 a owl:Class ; PMID:6358242, PMID:6987254, PMID:8964861 ; - oboInOwl:hasDbXref UMLS:C1849157, - UMLS:C1849158 ; oboInOwl:hasExactSynonym "IGF1RES", "igf-i resistance", "insulin-like growth factor i, resistance to", "insulin-like growth factor i, resistance to, due to increased binding protein", "somatomedin, end-organ insensitivity to", "somatomedin-c, resistance to" ; + skos:exactMatch UMLS:C1849157, + UMLS:C1849158 ; biolink:category biolink:Disease . OMIM:270550 a owl:Class ; @@ -478265,13 +495608,13 @@ OMIM:270550 a owl:Class ; PMID:8014978, PMID:8472930, PMID:8835098 ; - oboInOwl:hasDbXref UMLS:C1849140 ; oboInOwl:hasExactSynonym "SACS", "autosomal recessive spastic ataxia of charlevoix-saguenay", "charlevoix-saguenay spastic ataxia", "spastic ataxia 6, autosomal recessive", "spastic ataxia, charlevoix-saguenay iia" ; rdfs:subClassOf OMIMPS:108600 ; + skos:exactMatch UMLS:C1849140 ; biolink:category biolink:Disease . OMIM:270685 a owl:Class ; @@ -478291,14 +495634,14 @@ OMIM:270685 a owl:Class ; PMID:3981197, PMID:5964029, PMID:8395130 ; - oboInOwl:hasDbXref UMLS:C2931276, - ORPHA:100998 ; oboInOwl:hasExactSynonym "SPG17", "silver spastic paraplegia syndrome", "silver syndrome", "spastic paraplegia 17, autosomal dominant", "spastic paraplegia with amyotrophy of hands and feet" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C2931276, + ORPHA:100998 ; biolink:category biolink:Disease . OMIM:270700 a owl:Class ; @@ -478315,12 +495658,12 @@ OMIM:270700 a owl:Class ; PMID:19438933, PMID:19805727, PMID:5672932 ; - oboInOwl:hasDbXref UMLS:C1849128 ; oboInOwl:hasExactSynonym "SPG15", "kjellin syndrome", "spastic paraplegia 15, autosomal recessive", "spastic paraplegia and retinal degeneration" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1849128 ; biolink:category biolink:Disease . OMIM:270750 a owl:Class ; @@ -478333,13 +495676,13 @@ OMIM:270750 a owl:Class ; PMID:6886718, PMID:7294071, PMID:7441281 ; - oboInOwl:hasDbXref UMLS:C0796019 ; oboInOwl:hasExactSynonym "SPG23", "lison syndrome", "spastic paraparesis, vitiligo, premature graying, characteristic facies", "spastic paraplegia 23, autosomal recessive", "spastic paraplegia with pigmentary abnormalities" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C0796019 ; biolink:category biolink:Disease . OMIM:270800 a owl:Class ; @@ -478358,11 +495701,11 @@ OMIM:270800 a owl:Class ; PMID:7987300, PMID:8649538, PMID:9266155 ; - oboInOwl:hasDbXref UMLS:C1849115, - ORPHA:100986 ; oboInOwl:hasExactSynonym "SPG5A", "spastic paraplegia 5a, autosomal recessive" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1849115, + ORPHA:100986 ; biolink:category biolink:Disease . OMIM:272430 a owl:Class ; @@ -478382,15 +495725,15 @@ OMIM:272430 a owl:Class ; PMID:31497877, PMID:82089, PMID:8723066 ; - oboInOwl:hasDbXref UMLS:C1832409, - UMLS:C1848947, - ORPHA:157820 ; oboInOwl:hasExactSynonym "CISS1", "crisponi syndrome", "crisponi/cold-induced sweating syndrome 1", "muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death", "sohar-crisponi syndrome" ; rdfs:subClassOf OMIMPS:272430 ; + skos:exactMatch UMLS:C1832409, + UMLS:C1848947, + ORPHA:157820 ; biolink:category biolink:Disease . OMIM:272440 a owl:Class ; @@ -478409,11 +495752,11 @@ OMIM:272440 a owl:Class ; PMID:7473664, PMID:7717418, PMID:8867657 ; - oboInOwl:hasDbXref UMLS:C0795940 ; oboInOwl:hasExactSynonym "FLPIS", "filippi syndrome", "scott craniodigital syndrome with mental retardation", "syndactyly, iia i, with microcephaly and mental retardation" ; + skos:exactMatch UMLS:C0795940 ; biolink:category biolink:Disease . OMIM:273300 a owl:Class ; @@ -478480,13 +495823,6 @@ OMIM:273300 a owl:Class ; PMID:9562446, PMID:9605748, PMID:9989495 ; - oboInOwl:hasDbXref UMLS:C0014145, - UMLS:C0036631, - UMLS:C0238451, - UMLS:C0334517, - UMLS:C1266158, - UMLS:C1336708, - UMLS:C3463918 ; oboInOwl:hasExactSynonym "TGCT", "embryonal cell carcinoma", "endodermal sinus tumor", @@ -478496,6 +495832,13 @@ OMIM:273300 a owl:Class ; "spermatocytic seminoma", "teratoma, testicular", "testicular germ cell tumor" ; + skos:exactMatch UMLS:C0014145, + UMLS:C0036631, + UMLS:C0238451, + UMLS:C0334517, + UMLS:C1266158, + UMLS:C1336708, + UMLS:C3463918 ; biolink:category biolink:Disease . OMIM:273395 a owl:Class ; @@ -478508,10 +495851,10 @@ OMIM:273395 a owl:Class ; PMID:4076260, PMID:8256824, PMID:8957512 ; - oboInOwl:hasDbXref UMLS:C4012268 ; oboInOwl:hasExactSynonym "TETAMS1", "tetraamelia syndrome 1", "tetraamelia syndrome, autosomal recessive" ; + skos:exactMatch UMLS:C4012268 ; biolink:category biolink:Disease . OMIM:273750 a owl:Class ; @@ -478534,7 +495877,6 @@ OMIM:273750 a owl:Class ; PMID:5489699, PMID:6716411, PMID:976277 ; - oboInOwl:hasDbXref UMLS:C2678312 ; oboInOwl:hasExactSynonym "3M1", "3m syndrome", "dolichospondylic dysplasia", @@ -478543,6 +495885,7 @@ OMIM:273750 a owl:Class ; "three m syndrome 1", "yakut short stature syndrome" ; rdfs:subClassOf OMIMPS:273750 ; + skos:exactMatch UMLS:C2678312 ; biolink:category biolink:Disease . OMIM:274150 a owl:Class ; @@ -478586,10 +495929,6 @@ OMIM:274150 a owl:Class ; PMID:9828245, PMID:9828246, PMID:9828253 ; - oboInOwl:hasDbXref UMLS:C1268935, - UMLS:C1956258, - ORPHA:54057, - ORPHA:93583 ; oboInOwl:hasExactSynonym "TTP", "microangiopathic hemolytic anemia", "microangiopathic hemolytic anemia, congenital", @@ -478601,6 +495940,10 @@ OMIM:274150 a owl:Class ; "thrombotic thrombocytopenic purpura, hereditary, infantile- or adult-onset", "upshaw factor, deficiency of", "upshaw-schulman syndrome" ; + skos:exactMatch UMLS:C1268935, + UMLS:C1956258, + ORPHA:54057, + ORPHA:93583 ; biolink:category biolink:Disease . OMIM:274230 a owl:Class ; @@ -478610,9 +495953,9 @@ OMIM:274230 a owl:Class ; PMID:24974848, PMID:4683164, PMID:7121071 ; - oboInOwl:hasDbXref UMLS:C1848814 ; oboInOwl:hasExactSynonym "thymic neoplasia", - "thymoma, familial" . + "thymoma, familial" ; + skos:exactMatch UMLS:C1848814 . OMIM:276710 a owl:Class ; rdfs:label "tyrosinemia, iia 3" ; @@ -478626,13 +495969,13 @@ OMIM:276710 a owl:Class ; PMID:6828337, PMID:7774914, PMID:9343288 ; - oboInOwl:hasDbXref UMLS:C0268623, - ORPHA:69723 ; oboInOwl:hasExactSynonym "4-hydroxyphenylpyruvate dioxygenase deficiency", "4-hydroxyphenylpyruvic acid oxidase deficiency", "TYRSN3", "tyrosinemia, iia 3" ; rdfs:subClassOf OMIMPS:276700 ; + skos:exactMatch UMLS:C0268623, + ORPHA:69723 ; biolink:category biolink:Disease . OMIM:276901 a owl:Class ; @@ -478667,12 +496010,12 @@ OMIM:276901 a owl:Class ; PMID:9375581, PMID:9624053, PMID:9733039 ; - oboInOwl:hasDbXref UMLS:C1848634, - ORPHA:231178, - ORPHA:886 ; oboInOwl:hasExactSynonym "USH2A", "usher syndrome, iia 2a" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C1848634, + ORPHA:231178, + ORPHA:886 ; biolink:category biolink:Disease . OMIM:277400 a owl:Class ; @@ -478709,8 +496052,6 @@ OMIM:277400 a owl:Class ; PMID:5792556, PMID:6749192, PMID:9266389 ; - oboInOwl:hasDbXref UMLS:C1848561, - UMLS:C4693974 ; oboInOwl:hasExactSynonym "MAHCC", "methylmalonic acidemia and homocystinuria, cblc iia", "methylmalonic aciduria and homocystinuria, cblc iia", @@ -478718,6 +496059,8 @@ OMIM:277400 a owl:Class ; "methylmalonic aciduria and homocystinuria, vitamin b12-responsive", "vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase" ; rdfs:subClassOf OMIMPS:277400 ; + skos:exactMatch UMLS:C1848561, + UMLS:C4693974 ; biolink:category biolink:Disease . OMIM:277410 a owl:Class ; @@ -478732,9 +496075,6 @@ OMIM:277410 a owl:Class ; PMID:371525, PMID:5524089, PMID:7357085 ; - oboInOwl:hasDbXref UMLS:C1848552, - UMLS:C1848553, - UMLS:C1848554 ; oboInOwl:hasExactSynonym "MAHCD", "homocystinuria, cbld type, variant 1", "methylmalonic acidemia and homocystinuria, cbld iia", @@ -478743,6 +496083,9 @@ OMIM:277410 a owl:Class ; "methylmalonic aciduria, cbld type, variant 2", "methylmalonic aciduria, cblh type, formerly" ; rdfs:subClassOf OMIMPS:277400 ; + skos:exactMatch UMLS:C1848552, + UMLS:C1848553, + UMLS:C1848554 ; biolink:category biolink:Disease . OMIM:277440 a owl:Class ; @@ -478779,8 +496122,6 @@ OMIM:277440 a owl:Class ; PMID:8392085, PMID:9005998, PMID:9062495 ; - oboInOwl:hasDbXref UMLS:C0342646, - UMLS:C3536983 ; oboInOwl:hasExactSynonym "VDDR2A", "generalized resistance to 1,25-dihydroxyvitamin d", "hypocalcemic vitamin d-resistant rickets", @@ -478791,6 +496132,8 @@ OMIM:277440 a owl:Class ; "vitamin d-dependent rickets, iia 2a", "vitamin d-dependent rickets, iia 2a, with or without alopecia", "vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol" ; + skos:exactMatch UMLS:C0342646, + UMLS:C3536983 ; biolink:category biolink:Disease . OMIM:277590 a owl:Class ; @@ -478818,11 +496161,11 @@ OMIM:277590 a owl:Class ; PMID:9613346, PMID:9781911, PMID:9781912 ; - oboInOwl:hasDbXref UMLS:C0265210, - ORPHA:3447 ; oboInOwl:hasExactSynonym "WVS", "weaver syndrome", "weaver-smith syndrome" ; + skos:exactMatch UMLS:C0265210, + ORPHA:3447 ; biolink:category biolink:Disease . OMIM:278000 a owl:Class ; @@ -478863,13 +496206,13 @@ OMIM:278000 a owl:Class ; PMID:859064, PMID:8617513, PMID:9700186 ; - oboInOwl:hasDbXref UMLS:C0043208 ; oboInOwl:hasExactSynonym "cholesterol ester hydrolase deficiency", "cholesteryl ester storage disease", "lal deficiency", "lipa deficiency", "lysosomal acid lipase deficiency", "wolman disease" ; + skos:exactMatch UMLS:C0043208 ; biolink:category biolink:Disease . OMIM:278150 a owl:Class ; @@ -478884,13 +496227,13 @@ OMIM:278150 a owl:Class ; PMID:21070332, PMID:21426374, PMID:9738775 ; - oboInOwl:hasDbXref UMLS:C1848435, - UMLS:C3279470 ; oboInOwl:hasExactSynonym "HYPT8", "hypotrichosis 8", "hypotrichosis, localized, autosomal recessive 3", "woolly hair, autosomal recessive 1, with or without hypotrichosis" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C1848435, + UMLS:C3279470 ; biolink:category biolink:Disease . OMIM:278720 a owl:Class ; @@ -478909,13 +496252,13 @@ OMIM:278720 a owl:Class ; PMID:7389185, PMID:8298653, PMID:9804340 ; - oboInOwl:hasDbXref UMLS:C2752147, - ORPHA:910 ; oboInOwl:hasExactSynonym "XPC", "xeroderma pigmentosum 3", "xeroderma pigmentosum, complementation group c", "xp, group c", "xpcc" ; + skos:exactMatch UMLS:C2752147, + ORPHA:910 ; biolink:category biolink:Disease . OMIM:300000 a owl:Class ; @@ -478937,7 +496280,6 @@ OMIM:300000 a owl:Class ; PMID:9624301, PMID:9677070, PMID:9843057 ; - oboInOwl:hasDbXref UMLS:C2936904 ; oboInOwl:hasExactSynonym "GBBB", "hypertelorism with esophageal abnormality and hypospadias", "hypertelorism-hypospadias syndrome", @@ -478949,6 +496291,7 @@ OMIM:300000 a owl:Class ; "opitz syndrome, X-linked", "opitz-g syndrome, iia i, formerly", "telecanthus-hypospadias syndrome" ; + skos:exactMatch UMLS:C2936904 ; biolink:category biolink:Disease . OMIM:300030 a owl:Class ; @@ -478959,11 +496302,11 @@ OMIM:300030 a owl:Class ; PMID:9261007, PMID:9799605 ; RO:0002525 CHR:9606chrXp21.2 ; - oboInOwl:hasDbXref UMLS:C3888089 ; oboInOwl:hasExactSynonym "DFNX3", "deafness, X-linked 3", "deafness, X-linked 4, congenital sensorineural" ; rdfs:subClassOf OMIMPS:304500 ; + skos:exactMatch UMLS:C3888089 ; biolink:category biolink:Disease . OMIM:300031 a owl:Class ; @@ -478975,24 +496318,26 @@ OMIM:300031 a owl:Class ; PMID:8499907, PMID:8651274, PMID:9032643 ; - oboInOwl:hasDbXref UMLS:C1424761 ; oboInOwl:hasExactSynonym "FAM11A", "family with sequence similarity 11, member a", "fragile site, folic acid type, fra(x)(q28) f" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:84548 ; - skos:exactMatch HGNC_symbol:TMEM185A ; + skos:exactMatch UMLS:C1424761, + HGNC:17125, + HGNC_symbol:TMEM185A ; biolink:category biolink:Gene . OMIM:300047 a owl:Class ; - rdfs:label "mental retardation, X-linked 20" ; + rdfs:label "intellectual developmental disorder, X-linked 20" ; IAO:0000142 PMID:1605216, PMID:7573127 ; RO:0002525 CHR:9606chrXp11-q21 ; - oboInOwl:hasDbXref UMLS:C0796226 ; - oboInOwl:hasExactSynonym "MRX20", + oboInOwl:hasExactSynonym "XLID20", + "intellectual developmental disorder, X-linked 20", "mental retardation, X-linked 20" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796226 ; biolink:category biolink:Disease . OMIM:300049 a owl:Class ; @@ -479026,11 +496371,6 @@ OMIM:300049 a owl:Class ; PMID:9710025, PMID:9810565, PMID:9883725 ; - oboInOwl:hasDbXref UMLS:C1845235, - UMLS:C1848213, - UMLS:C4551969, - ORPHA:2149, - ORPHA:98892 ; oboInOwl:hasExactSynonym "PVNH1", "heterotopia, familial nodular", "heterotopia, periventricular nodular, with frontometaphyseal dysplasia", @@ -479040,6 +496380,11 @@ OMIM:300049 a owl:Class ; "periventricular nodular heterotopia 1", "periventricular nodular heterotopia 4, formerly" ; rdfs:subClassOf OMIMPS:300049 ; + skos:exactMatch UMLS:C1845235, + UMLS:C1848213, + UMLS:C4551969, + ORPHA:2149, + ORPHA:98892 ; biolink:category biolink:Disease . OMIM:300067 a owl:Class ; @@ -479067,10 +496412,6 @@ OMIM:300067 a owl:Class ; PMID:9489700, PMID:9489790, PMID:9817918 ; - oboInOwl:hasDbXref UMLS:C1848070, - UMLS:C1848200, - UMLS:C1848201, - UMLS:C4551968 ; oboInOwl:hasExactSynonym "LISX1", "dc syndrome", "double cortex syndrome", @@ -479080,6 +496421,10 @@ OMIM:300067 a owl:Class ; "subcortical laminar heterotopia, X-linked", "xlis" ; rdfs:subClassOf OMIMPS:607432 ; + skos:exactMatch UMLS:C1848070, + UMLS:C1848200, + UMLS:C1848201, + UMLS:C4551968 ; biolink:category biolink:Disease . OMIM:300071 a owl:Class ; @@ -479093,21 +496438,21 @@ OMIM:300071 a owl:Class ; PMID:9529339, PMID:9662399, PMID:9662400 ; - oboInOwl:hasDbXref UMLS:C1848172 ; oboInOwl:hasExactSynonym "CSNB2A", "csnb, incomplete, X-linked", "night blindness, congenital stationary, iia 2", "night blindness, congenital stationary, iia 2a" ; rdfs:subClassOf OMIMPS:310500 ; + skos:exactMatch UMLS:C1848172 ; biolink:category biolink:Disease . OMIM:300076 a owl:Class ; rdfs:label "immunoneurologic disorder, X-linked" ; IAO:0000142 PMID:7783167 ; RO:0002525 CHR:9606chrXq26-qter ; - oboInOwl:hasDbXref UMLS:C1848144 ; oboInOwl:hasExactSynonym "immunoneurologic disorder, X-linked", "woods-black-norbury syndrome" ; + skos:exactMatch UMLS:C1848144 ; biolink:category biolink:Disease . OMIM:300088 a owl:Class ; @@ -479124,15 +496469,15 @@ OMIM:300088 a owl:Class ; PMID:6770678, PMID:9288083, PMID:9288105 ; - oboInOwl:hasDbXref UMLS:C1848137, - ORPHA:101039, - ORPHA:2076 ; oboInOwl:hasExactSynonym "DEE9", "developmental and epileptic encephalopathy 9", "epilepsy, female-restricted, with mental retardation", "epileptic encephalopathy, early infantile, 9", "juberg-hellman syndrome" ; rdfs:subClassOf OMIMPS:308350 ; + skos:exactMatch UMLS:C1848137, + ORPHA:101039, + ORPHA:2076 ; biolink:category biolink:Disease . OMIM:300097 a owl:Class ; @@ -479142,24 +496487,25 @@ OMIM:300097 a owl:Class ; PMID:7761436, PMID:8535061, PMID:9441743 ; - oboInOwl:hasDbXref UMLS:C1416981 ; oboInOwl:hasExactSynonym "MAGEB1", "dss/ahc critical interval gene, from mage superfamily, 10", "mage-like gene on xp", "melanoma antigen, family b, 1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4112 ; - skos:exactMatch HGNC_symbol:MAGEB1 ; + skos:exactMatch UMLS:C1416981, + HGNC:6808, + HGNC_symbol:MAGEB1 ; biolink:category biolink:Gene . OMIM:300106 a owl:Class ; rdfs:label "spondyloepimetaphyseal dysplasia, X-linked" ; IAO:0000142 PMID:27236923, PMID:8064814 ; - oboInOwl:hasDbXref UMLS:C1848097 ; oboInOwl:hasExactSynonym "SEMDX", "semd, X-linked", "spondyloepimetaphyseal dysplasia, X-linked" ; + skos:exactMatch UMLS:C1848097 ; biolink:category biolink:Disease . OMIM:300119 a owl:Class ; @@ -479172,14 +496518,15 @@ OMIM:300119 a owl:Class ; PMID:8552669, PMID:8910586, PMID:9177784 ; - oboInOwl:hasDbXref UMLS:C1416385 ; oboInOwl:hasExactSynonym "IL13RA1", "interleukin 13 receptor, alpha", "interleukin 13 receptor, alpha-1", "nr4, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3597 ; - skos:exactMatch HGNC_symbol:IL13RA1 ; + skos:exactMatch UMLS:C1416385, + HGNC:5974, + HGNC_symbol:IL13RA1 ; biolink:category biolink:Gene . OMIM:300143 a owl:Class ; @@ -479196,13 +496543,13 @@ OMIM:300143 a owl:Class ; PMID:8357005, PMID:8817333, PMID:9611075 ; - oboInOwl:hasDbXref UMLS:C0796206, - UMLS:C0796241 ; oboInOwl:hasExactSynonym "XLID21", "intellectual developmental disorder, X-linked 21", "mental retardation, X-linked 21", "mental retardation, X-linked 34" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796206, + UMLS:C0796241 ; biolink:category biolink:Disease . OMIM:300148 a owl:Class ; @@ -479214,8 +496561,6 @@ OMIM:300148 a owl:Class ; PMID:27333055, PMID:28055140, PMID:9781023 ; - oboInOwl:hasDbXref UMLS:C1846278, - ORPHA:85282 ; oboInOwl:hasExactSynonym "MEHMO", "mehmo syndrome", "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity", @@ -479223,6 +496568,8 @@ OMIM:300148 a owl:Class ; "mental retardation, x-linked, syndromic 25", "mental retardation, x-linked, syndromic, borck iia" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1846278, + ORPHA:85282 ; biolink:category biolink:Disease . OMIM:300200 a owl:Class ; @@ -479262,7 +496609,6 @@ OMIM:300200 a owl:Class ; PMID:9003500, PMID:910763, PMID:9529340 ; - oboInOwl:hasDbXref UMLS:C0342482 ; oboInOwl:hasExactSynonym "AHC", "addison disease, X-linked", "adrenal hypoplasia, congenital", @@ -479270,6 +496616,7 @@ OMIM:300200 a owl:Class ; "ahc with hhg", "ahc with isolated gonadotropin deficiency", "cytomegalic adrenocortical hypoplasia" ; + skos:exactMatch UMLS:C0342482 ; biolink:category biolink:Disease . OMIM:300232 a owl:Class ; @@ -479279,11 +496626,11 @@ OMIM:300232 a owl:Class ; PMID:23239615, PMID:27102849, PMID:28842795 ; - oboInOwl:hasDbXref UMLS:C1846148 ; oboInOwl:hasExactSynonym "SEMDHL", "leukoencephalopathy with metaphyseal chondrodysplasia", "semd, x-linked, with mental deterioration", "spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy" ; + skos:exactMatch UMLS:C1846148 ; biolink:category biolink:Disease . OMIM:300289 a owl:Class ; @@ -479291,7 +496638,6 @@ OMIM:300289 a owl:Class ; IAO:0000142 PMID:10197611, PMID:10987281, PMID:16382448 ; - oboInOwl:hasDbXref UMLS:C1538118 ; oboInOwl:hasExactSynonym "XAGE1B", "g antigen, family d, 2", "x antigen family, member 1b", @@ -479301,7 +496647,9 @@ OMIM:300289 a owl:Class ; "xage1e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:653067 ; - skos:exactMatch HGNC_symbol:XAGE1B ; + skos:exactMatch UMLS:C1538118, + HGNC:25400, + HGNC_symbol:XAGE1B ; biolink:category biolink:Gene . OMIM:300352 a owl:Class ; @@ -479322,7 +496670,6 @@ OMIM:300352 a owl:Class ; PMID:23644449, PMID:23660394, PMID:24953403 ; - oboInOwl:hasDbXref UMLS:C1845862 ; oboInOwl:hasExactSynonym "CCDS1", "cerebral creatine deficiency syndrome 1", "creatine deficiency syndrome, X-linked", @@ -479330,6 +496677,7 @@ OMIM:300352 a owl:Class ; "mental retardation, x-linked, with creatine transport deficiency", "mental retardation, x-linked, with seizures, short stature, and midface hypoplasia" ; rdfs:subClassOf OMIMPS:300352 ; + skos:exactMatch UMLS:C1845862 ; biolink:category biolink:Disease . OMIM:300438 a owl:Class ; @@ -479349,7 +496697,6 @@ OMIM:300438 a owl:Class ; PMID:22132097, PMID:24549042, PMID:26950678 ; - oboInOwl:hasDbXref UMLS:C3266731 ; oboInOwl:hasExactSynonym "17-beta-hydroxysteroid dehydrogenase 10 deficiency", "2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency", "3-hydroxyacyl-coa dehydrogenase 2 deficiency", @@ -479360,6 +496707,7 @@ OMIM:300438 a owl:Class ; "mental retardation with chorioathetosis and abnormal behavior", "mental retardation, x-linked, syndromic 10", "mhbd deficiency" ; + skos:exactMatch UMLS:C3266731 ; biolink:category biolink:Disease . OMIM:300514 a owl:Class ; @@ -479376,12 +496724,12 @@ OMIM:300514 a owl:Class ; PMID:3919452, PMID:7203484, PMID:8368240 ; - oboInOwl:hasDbXref UMLS:C1845292 ; oboInOwl:hasExactSynonym "FANCB", "facb", "fanconi anemia, complementation group B", "fanconi pancytopenia, iia 2" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C1845292 ; biolink:category biolink:Disease . OMIM:300523 a owl:Class ; @@ -479408,9 +496756,6 @@ OMIM:300523 a owl:Class ; PMID:8484404, PMID:8503437, PMID:870357 ; - oboInOwl:hasDbXref UMLS:C0795889, - ORPHA:280270, - ORPHA:59 ; oboInOwl:hasExactSynonym "AHDS", "allan-herndon syndrome", "allan-herndon-dudley syndrome", @@ -479419,6 +496764,9 @@ OMIM:300523 a owl:Class ; "monocarboxylate transporter 8 deficiency", "t3 resistance", "triiodothyronine resistance" ; + skos:exactMatch UMLS:C0795889, + ORPHA:280270, + ORPHA:59 ; biolink:category biolink:Disease . OMIM:300582 a owl:Class ; @@ -479441,9 +496789,9 @@ OMIM:300582 a owl:Class ; PMID:9254856, PMID:9259282, PMID:9916840 ; - oboInOwl:hasDbXref UMLS:C1845118 ; oboInOwl:hasExactSynonym "ISS", "short stature, idiopathic, X-linked" ; + skos:exactMatch UMLS:C1845118 ; biolink:category biolink:Disease . OMIM:300622 a owl:Class ; @@ -479454,10 +496802,10 @@ OMIM:300622 a owl:Class ; PMID:18537974, PMID:3973016, PMID:76801 ; - oboInOwl:hasDbXref UMLS:C0272137 ; oboInOwl:hasExactSynonym "TNPS", "galactosyltransferase deficiency", "tn polyagglutination syndrome" ; + skos:exactMatch UMLS:C0272137 ; biolink:category biolink:Disease . OMIM:300636 a owl:Class ; @@ -479476,13 +496824,13 @@ OMIM:300636 a owl:Class ; PMID:29534156, PMID:30422821, PMID:31965418 ; - oboInOwl:hasDbXref UMLS:C1970879, - ORPHA:319605, - ORPHA:319612 ; oboInOwl:hasExactSynonym "IMD33", "immunodeficiency 33", "invasive pneumococcal disease, recurrent isolated, 2, formerly" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1970879, + ORPHA:319605, + ORPHA:319612 ; biolink:category biolink:Disease . OMIM:300707 a owl:Class ; @@ -479490,11 +496838,11 @@ OMIM:300707 a owl:Class ; IAO:0000142 PMID:18297069, PMID:28225384, PMID:8818947 ; - oboInOwl:hasDbXref UMLS:C2678045 ; oboInOwl:hasExactSynonym "STAR", "star syndrome", "syndactyly with renal and anogenital malformations", "toe syndactyly, telecanthus, and anogenital and renal malformations" ; + skos:exactMatch UMLS:C2678045 ; biolink:category biolink:Disease . OMIM:300813 a owl:Class ; @@ -479511,8 +496859,8 @@ OMIM:300813 a owl:Class ; PMID:3031659, PMID:8406438, PMID:9428816 ; - oboInOwl:hasDbXref UMLS:C0039101 ; - oboInOwl:hasExactSynonym "sarcoma, synovial" . + oboInOwl:hasExactSynonym "sarcoma, synovial" ; + skos:exactMatch UMLS:C0039101 . OMIM:301026 a owl:Class ; rdfs:label "keipert syndrome" ; @@ -479524,11 +496872,11 @@ OMIM:301026 a owl:Class ; PMID:30982611, PMID:4708024, PMID:9001804 ; - oboInOwl:hasDbXref UMLS:C1850627, - ORPHA:2662 ; oboInOwl:hasExactSynonym "KPTS", "keipert syndrome", "nasodigitoacoustic syndrome, formerly" ; + skos:exactMatch UMLS:C1850627, + ORPHA:2662 ; biolink:category biolink:Disease . OMIM:301200 a owl:Class ; @@ -479551,8 +496899,6 @@ OMIM:301200 a owl:Class ; PMID:5225441, PMID:6947186, PMID:7782077 ; - oboInOwl:hasDbXref UMLS:C1845052, - UMLS:C1845053 ; oboInOwl:hasExactSynonym "AI1E", "amelogenesis imperfecta, iia 1e", "amelogenesis imperfecta, X-linked 1", @@ -479560,6 +496906,8 @@ OMIM:301200 a owl:Class ; "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1", "enamel hypoplasia, X-linked" ; rdfs:subClassOf OMIMPS:104500 ; + skos:exactMatch UMLS:C1845052, + UMLS:C1845053 ; biolink:category biolink:Disease . OMIM:302200 a owl:Class ; @@ -479575,15 +496923,15 @@ OMIM:302200 a owl:Class ; PMID:6800675, PMID:6873941, PMID:7116682 ; - oboInOwl:hasDbXref UMLS:C2930878, - UMLS:C4049004, - UMLS:C4049005 ; oboInOwl:hasExactSynonym "CTRCT40", "cataract 40", "cataract 40 with or without microcornea", "cataract, congenital total, with posterior sutural opacities 1n heterozygotes", "cataract, congenital, X-linked" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C2930878, + UMLS:C4049004, + UMLS:C4049005 ; biolink:category biolink:Disease . OMIM:302950 a owl:Class ; @@ -479612,11 +496960,11 @@ OMIM:302950 a owl:Class ; PMID:9719384, PMID:9863597, PMID:993917 ; - oboInOwl:hasDbXref UMLS:C1844853 ; oboInOwl:hasExactSynonym "CDPX1", "chondrodysplasia punctata 1, X-linked recessive", "chondrodysplasia punctata, brachytelephalangic", "cpxr" ; + skos:exactMatch UMLS:C1844853 ; biolink:category biolink:Disease . OMIM:303350 a owl:Class ; @@ -479645,7 +496993,6 @@ OMIM:303350 a owl:Class ; PMID:8649538, PMID:9266155, PMID:9354804 ; - oboInOwl:hasDbXref UMLS:C0795953 ; oboInOwl:hasExactSynonym "adducted thumb with mental retardation", "clasped thumb and mental retardation", "crash syndrome", @@ -479655,6 +497002,7 @@ OMIM:303350 a owl:Class ; "spastic paraplegia 1, X-linked", "thumb, congenital clasped, with mental retardation" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C0795953 ; biolink:category biolink:Disease . OMIM:304110 a owl:Class ; @@ -479687,11 +497035,11 @@ OMIM:304110 a owl:Class ; PMID:8669441, PMID:8775424, PMID:9302274 ; - oboInOwl:hasDbXref UMLS:C0220767 ; oboInOwl:hasExactSynonym "CFNS", "craniofrontonasal dysostosis", "craniofrontonasal dysplasia", "craniofrontonasal syndrome" ; + skos:exactMatch UMLS:C0220767 ; biolink:category biolink:Disease . OMIM:304340 a owl:Class ; @@ -479708,8 +497056,6 @@ OMIM:304340 a owl:Class ; PMID:4697849, PMID:5054319, PMID:8464840 ; - oboInOwl:hasDbXref UMLS:C0796254, - UMLS:C1845078 ; oboInOwl:hasExactSynonym "PGS", "mental retardation, X-linked 59", "mental retardation, x-linked, syndromic 21", @@ -479718,6 +497064,8 @@ OMIM:304340 a owl:Class ; "mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures", "pettigrew syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0796254, + UMLS:C1845078 ; biolink:category biolink:Disease . OMIM:304790 a owl:Class ; @@ -479745,8 +497093,6 @@ OMIM:304790 a owl:Class ; PMID:8482279, PMID:8597835, PMID:9481629 ; - oboInOwl:hasDbXref UMLS:C0342288, - UMLS:C1844663 ; oboInOwl:hasExactSynonym "IPEX", "X-linked autoimmunity-allergic dysregulation syndrome", "autoimmunity-immunodeficiency syndrome, X-linked", @@ -479758,6 +497104,8 @@ OMIM:304790 a owl:Class ; "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked", "islets of langerhans, absence of", "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked" ; + skos:exactMatch UMLS:C0342288, + UMLS:C1844663 ; biolink:category biolink:Disease . OMIM:305000 a owl:Class ; @@ -479819,9 +497167,6 @@ OMIM:305000 a owl:Class ; PMID:9590285, PMID:9663235, PMID:9886310 ; - oboInOwl:hasDbXref UMLS:C1148551, - UMLS:C1846142, - UMLS:C3806774 ; oboInOwl:hasExactSynonym "DKCX", "cerebellar hypoplasia with pancytopenia", "dyskeratosis congenita, X-linked", @@ -479829,6 +497174,9 @@ OMIM:305000 a owl:Class ; "hoyeraal-hreidarsson syndrome", "zinsser-cole-engman syndrome" ; rdfs:subClassOf OMIMPS:127550 ; + skos:exactMatch UMLS:C1148551, + UMLS:C1846142, + UMLS:C3806774 ; biolink:category biolink:Disease . OMIM:306400 a owl:Class ; @@ -479935,8 +497283,6 @@ OMIM:306400 a owl:Class ; PMID:9667376, PMID:9790760, PMID:9888386 ; - oboInOwl:hasDbXref UMLS:C1844376, - ORPHA:379 ; oboInOwl:hasExactSynonym "CGDX", "cgd", "chronic granulomatous disease, X-linked", @@ -479946,6 +497292,8 @@ OMIM:306400 a owl:Class ; "granulomatous disease, chronic, X-linked", "granulomatous disease, chronic, x-linked, variant" ; rdfs:subClassOf OMIMPS:306400 ; + skos:exactMatch UMLS:C1844376, + ORPHA:379 ; biolink:category biolink:Disease . OMIM:307800 a owl:Class ; @@ -480009,7 +497357,6 @@ OMIM:307800 a owl:Class ; PMID:9253316, PMID:9346990, PMID:9768646 ; - oboInOwl:hasDbXref UMLS:C0733682 ; oboInOwl:hasExactSynonym "XLHR", "hyp", "hypophosphatemia, X-linked", @@ -480017,6 +497364,7 @@ OMIM:307800 a owl:Class ; "hypophosphatemic vitamin d-resistant rickets", "vitamin d-resistant rickets, X-linked" ; rdfs:subClassOf OMIMPS:193100 ; + skos:exactMatch UMLS:C0733682 ; biolink:category biolink:Disease . OMIM:308300 a owl:Class ; @@ -480080,14 +497428,14 @@ OMIM:308300 a owl:Class ; PMID:9450877, PMID:9738871, PMID:9843060 ; - oboInOwl:hasDbXref UMLS:C0021171, - UMLS:C2930820, - ORPHA:464 ; oboInOwl:hasExactSynonym "IP", "bloch-sulzberger syndrome", "incontinentia pigmenti", "incontinentia pigmenti, iia ii, formerly", "incontinentia pigmenti, familial male-lethal iia" ; + skos:exactMatch UMLS:C0021171, + UMLS:C2930820, + ORPHA:464 ; biolink:category biolink:Disease . OMIM:309500 a owl:Class ; @@ -480111,7 +497459,6 @@ OMIM:309500 a owl:Class ; PMID:7943045, PMID:9545405, PMID:9599645 ; - oboInOwl:hasDbXref UMLS:C0796135 ; oboInOwl:hasExactSynonym "RENS1", "golabi-ito-hall syndrome", "mental retardation, X-linked 55", @@ -480122,6 +497469,7 @@ OMIM:309500 a owl:Class ; "renpenning syndrome 1", "sutherland-haan X-linked mental retardation syndrome" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0796135 ; biolink:category biolink:Disease . OMIM:309530 a owl:Class ; @@ -480149,9 +497497,6 @@ OMIM:309530 a owl:Class ; PMID:7211956, PMID:7943038, PMID:7943039 ; - oboInOwl:hasDbXref UMLS:C0796224, - UMLS:C1845181, - UMLS:C2931498 ; oboInOwl:hasExactSynonym "XLID1", "intellectual developmental disorder, X-linked 1", "mental retardation, X-linked 1", @@ -480159,6 +497504,9 @@ OMIM:309530 a owl:Class ; "mental retardation, X-linked 78", "mrx" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796224, + UMLS:C1845181, + UMLS:C2931498 ; biolink:category biolink:Disease . OMIM:309548 a owl:Class ; @@ -480182,13 +497530,13 @@ OMIM:309548 a owl:Class ; PMID:9032643, PMID:9341861, PMID:9475603 ; - oboInOwl:hasDbXref UMLS:C0751157 ; oboInOwl:hasExactSynonym "XLID109", "fraxe mental retardation syndrome", "intellectual developmental disorder, X-linked 109", "mental retardation, X-linked 109", "mental retardation, x-linked, associated with fragile site fraxe" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0751157 ; biolink:category biolink:Disease . OMIM:309549 a owl:Class ; @@ -480201,12 +497549,12 @@ OMIM:309549 a owl:Class ; PMID:1605216, PMID:17333282, PMID:8288232 ; - oboInOwl:hasDbXref UMLS:C0796215 ; oboInOwl:hasExactSynonym "XLID9", "intellectual developmental disorder, X-linked 9", "mental retardation, X-linked 44", "mental retardation, X-linked 9" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796215 ; biolink:category biolink:Disease . OMIM:309580 a owl:Class ; @@ -480233,7 +497581,6 @@ OMIM:309580 a owl:Class ; PMID:8630485, PMID:9043863, PMID:9788563 ; - oboInOwl:hasDbXref UMLS:C4759781 ; oboInOwl:hasExactSynonym "MRXHF1", "carpenter-waziri syndrome", "chudley-lowry syndrome", @@ -480243,6 +497590,7 @@ OMIM:309580 a owl:Class ; "sfms", "smith-fineman-myers syndrome 1", "xlmr-hypotonic facies syndrome" ; + skos:exactMatch UMLS:C4759781 ; biolink:category biolink:Disease . OMIM:310600 a owl:Class ; @@ -480294,11 +497642,11 @@ OMIM:310600 a owl:Class ; PMID:8252044, PMID:8298646, PMID:8990009 ; - oboInOwl:hasDbXref UMLS:C0266526 ; oboInOwl:hasExactSynonym "ND", "atrophia bulborum hereditaria", "episkopi blindness", "norrie disease" ; + skos:exactMatch UMLS:C0266526 ; biolink:category biolink:Disease . OMIM:311360 a owl:Class ; @@ -480341,10 +497689,6 @@ OMIM:311360 a owl:Class ; PMID:9497258, PMID:9719368, PMID:9853851 ; - oboInOwl:hasDbXref UMLS:C0085215, - UMLS:C3494522, - UMLS:C4552079, - ORPHA:908 ; oboInOwl:hasExactSynonym "POF1", "fragile 10 premature ovarian failure", "hypergonadotropic ovarian failure, X-linked", @@ -480353,6 +497697,10 @@ OMIM:311360 a owl:Class ; "premature ovarian failure, X-linked", "primary ovarian insufficiency, fragile x-associated" ; rdfs:subClassOf OMIMPS:311360 ; + skos:exactMatch UMLS:C0085215, + UMLS:C3494522, + UMLS:C4552079, + ORPHA:908 ; biolink:category biolink:Disease . OMIM:311900 a owl:Class ; @@ -480364,12 +497712,12 @@ OMIM:311900 a owl:Class ; PMID:30189253, PMID:30450804, PMID:5410571 ; - oboInOwl:hasDbXref UMLS:C1839463, - ORPHA:2886 ; oboInOwl:hasExactSynonym "TARPS", "pierre robin syndrome with congenital heart malformation and clubfoot", "talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava", "tarp syndrome" ; + skos:exactMatch UMLS:C1839463, + ORPHA:2886 ; biolink:category biolink:Disease . OMIM:312920 a owl:Class ; @@ -480394,11 +497742,11 @@ OMIM:312920 a owl:Class ; PMID:870357, PMID:9266155, PMID:9427151 ; - oboInOwl:hasDbXref UMLS:C1839264 ; oboInOwl:hasExactSynonym "SPG2", "spastic paraplegia 2, X-linked", "sppx2" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C1839264 ; biolink:category biolink:Disease . OMIM:313500 a owl:Class ; @@ -480408,11 +497756,11 @@ OMIM:313500 a owl:Class ; PMID:18657636, PMID:19278982, PMID:6080810 ; - oboInOwl:hasDbXref UMLS:C1970757 ; oboInOwl:hasExactSynonym "STHAGX1", "hypodontia/oligodontia, x-linked, 1", "tooth agenesis, selective, x-linked, 1" ; rdfs:subClassOf OMIMPS:106600 ; + skos:exactMatch UMLS:C1970757 ; biolink:category biolink:Disease . OMIM:314700 a owl:Class ; @@ -480439,10 +497787,10 @@ OMIM:314700 a owl:Class ; PMID:7533029, PMID:881713, PMID:88302 ; - oboInOwl:hasDbXref UMLS:C1292284 ; oboInOwl:hasExactSynonym "XG", "blood group, 10g system", "xg blood group system" ; + skos:exactMatch UMLS:C1292284 ; biolink:category biolink:Disease . OMIM:400044 a owl:Class ; @@ -480496,10 +497844,6 @@ OMIM:400044 a owl:Class ; PMID:84224, PMID:9678362, PMID:987012 ; - oboInOwl:hasDbXref UMLS:C2748896, - UMLS:C2748898, - UMLS:C2748899, - ORPHA:242 ; oboInOwl:hasExactSynonym "46,xy gonadal dysgenesis, complete, sry-related", "46,xy sex reversal 1", "46,xy sex reversal, sry-related", @@ -480508,6 +497852,10 @@ OMIM:400044 a owl:Class ; "sex-reversing locus on x, formerly", "testis-determining factor, x-chromosomal, formerly" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C2748896, + UMLS:C2748898, + UMLS:C2748899, + ORPHA:242 ; biolink:category biolink:Disease . OMIM:415000 a owl:Class ; @@ -480564,8 +497912,6 @@ OMIM:415000 a owl:Class ; PMID:9384609, PMID:9804236, PMID:9806824 ; - oboInOwl:hasDbXref UMLS:C1839071, - UMLS:C1839072 ; oboInOwl:hasExactSynonym "SPGFY2", "azf regions", "azoospermia factor regions", @@ -480576,6 +497922,8 @@ OMIM:415000 a owl:Class ; "spermatogenic failure, nonobstructive, Y-linked", "spermatogenic failure, y-linked, 2" ; rdfs:subClassOf OMIMPS:258150 ; + skos:exactMatch UMLS:C1839071, + UMLS:C1839072 ; biolink:category biolink:Disease . OMIM:475000 a owl:Class ; @@ -480590,11 +497938,11 @@ OMIM:475000 a owl:Class ; PMID:7327547, PMID:7446531, PMID:7562976 ; - oboInOwl:hasDbXref UMLS:C1868676 ; oboInOwl:hasExactSynonym "GCY", "growth control, y-chromosome influenced", "stature", "tooth size" ; + skos:exactMatch UMLS:C1868676 ; biolink:category biolink:Disease . OMIM:500004 a owl:Class ; @@ -480603,10 +497951,10 @@ OMIM:500004 a owl:Class ; PMID:8364569, PMID:8432539, PMID:9135384 ; - oboInOwl:hasDbXref UMLS:C0271097 ; oboInOwl:hasExactSynonym "retinitis pigmentosa 21, formerly", "retinitis pigmentosa 8, formerly", "retinitis pigmentosa-deafness syndrome" ; + skos:exactMatch UMLS:C0271097 ; biolink:category biolink:Disease . OMIM:600067 a owl:Class ; @@ -480618,7 +497966,6 @@ OMIM:600067 a owl:Class ; PMID:3109396, PMID:7835904, PMID:8333863 ; - oboInOwl:hasDbXref UMLS:C1421345 ; oboInOwl:hasExactSynonym "UGT2B4", "udp glucuronosyltransferase 2 family, member b11, formerly", "udp glucuronosyltransferase 2 family, member b4", @@ -480627,7 +497974,9 @@ OMIM:600067 a owl:Class ; "uridine diphosphate glycosyltransferase 2 family, member b4" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:7363 ; - skos:exactMatch HGNC_symbol:UGT2B4 ; + skos:exactMatch UMLS:C1421345, + HGNC:12553, + HGNC_symbol:UGT2B4 ; biolink:category biolink:Gene . OMIM:600105 a owl:Class ; @@ -480643,13 +497992,13 @@ OMIM:600105 a owl:Class ; PMID:7943119, PMID:8001962, PMID:8646891 ; - oboInOwl:hasDbXref UMLS:C1838647 ; oboInOwl:hasExactSynonym "RP12", "retinitis pigmentosa 12", "retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium", "rp with or without pprpe", "rp with or without preserved paraarteriole retinal pigment epithelium" ; rdfs:subClassOf OMIMPS:268000 ; + skos:exactMatch UMLS:C1838647 ; biolink:category biolink:Disease . OMIM:600110 a owl:Class ; @@ -480665,11 +498014,11 @@ OMIM:600110 a owl:Class ; PMID:8002833, PMID:8002834, PMID:8154548 ; - oboInOwl:hasDbXref UMLS:C1838644 ; oboInOwl:hasExactSynonym "STGD3", "macular dystrophy with flecks, iia 3", "stargardt disease 3", "stargardt-like macular dystrophy, autosomal dominant" ; + skos:exactMatch UMLS:C1838644 ; biolink:category biolink:Disease . OMIM:600118 a owl:Class ; @@ -480688,12 +498037,12 @@ OMIM:600118 a owl:Class ; PMID:4839026, PMID:8249951, PMID:8958326 ; - oboInOwl:hasDbXref UMLS:C1838625 ; oboInOwl:hasExactSynonym "WARBM1", "micro syndrome", "warburg micro syndrome", "warburg micro syndrome 1" ; rdfs:subClassOf OMIMPS:600118 ; + skos:exactMatch UMLS:C1838625 ; biolink:category biolink:Disease . OMIM:600124 a owl:Class ; @@ -480715,7 +498064,6 @@ OMIM:600124 a owl:Class ; PMID:8029005 ; RO:0002525 CHR:9606chr7p15.2 ; RO:0003303 OMIM:615422 ; - oboInOwl:hasDbXref UMLS:C1415636 ; oboInOwl:hasExactSynonym "HNRNPA2B1", "heterogeneous nuclear ribonucleoprotein a2", "heterogeneous nuclear ribonucleoprotein a2/b1", @@ -480723,7 +498071,9 @@ OMIM:600124 a owl:Class ; "hnrpa2b1" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3181 ; - skos:exactMatch HGNC_symbol:HNRNPA2B1 ; + skos:exactMatch UMLS:C1415636, + HGNC:5033, + HGNC_symbol:HNRNPA2B1 ; biolink:category biolink:Gene . OMIM:600274 a owl:Class ; @@ -480785,12 +498135,6 @@ OMIM:600274 a owl:Class ; PMID:9630238, PMID:9641683, PMID:9789048 ; - oboInOwl:hasDbXref UMLS:C0338451, - UMLS:C0520716, - ORPHA:100069, - ORPHA:100070, - ORPHA:275864, - ORPHA:282 ; oboInOwl:hasExactSynonym "FTD", "dementia, frontotemporal, with parkinsonism", "disinhibition-dementia-parkinsonism-amyotrophy complex", @@ -480804,6 +498148,12 @@ OMIM:600274 a owl:Class ; "pallidopontonigral degeneration", "pick complex", "wilhelmsen-lynch disease" ; + skos:exactMatch UMLS:C0338451, + UMLS:C0520716, + ORPHA:100069, + ORPHA:100070, + ORPHA:275864, + ORPHA:282 ; biolink:category biolink:Disease . OMIM:600289 a owl:Class ; @@ -480840,7 +498190,6 @@ OMIM:600289 a owl:Class ; PMID:9480836, PMID:9628874, PMID:9707433 ; - oboInOwl:hasDbXref UMLS:C1366876 ; oboInOwl:hasExactSynonym "MAPK14", "csaid-binding protein 1", "csaid-binding protein 2", @@ -480853,7 +498202,9 @@ OMIM:600289 a owl:Class ; "stress-activated protein kinase 2a" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1432 ; - skos:exactMatch HGNC_symbol:MAPK14 ; + skos:exactMatch UMLS:C1366876, + HGNC:6876, + HGNC_symbol:MAPK14 ; biolink:category biolink:Gene . OMIM:600376 a owl:Class ; @@ -480888,12 +498239,12 @@ OMIM:600376 a owl:Class ; PMID:8640225, PMID:8717052, PMID:9245985 ; - oboInOwl:hasDbXref UMLS:C1832529, - UMLS:C1838163 ; oboInOwl:hasExactSynonym "HHT2", "pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related", "telangiectasia, hereditary hemorrhagic, iia 2" ; rdfs:subClassOf OMIMPS:187300 ; + skos:exactMatch UMLS:C1832529, + UMLS:C1838163 ; biolink:category biolink:Disease . OMIM:600408 a owl:Class ; @@ -480911,7 +498262,6 @@ OMIM:600408 a owl:Class ; PMID:8796349, PMID:8977099, PMID:9659900 ; - oboInOwl:hasDbXref UMLS:C1333206 ; oboInOwl:hasExactSynonym "DDR1", "cell adhesion kinase", "discoidin domain receptor", @@ -480926,7 +498276,9 @@ OMIM:600408 a owl:Class ; "tyrosine kinase receptor e" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:780 ; - skos:exactMatch HGNC_symbol:DDR1 ; + skos:exactMatch UMLS:C1333206, + HGNC:2730, + HGNC_symbol:DDR1 ; biolink:category biolink:Gene . OMIM:600638 a owl:Class ; @@ -480940,11 +498292,11 @@ OMIM:600638 a owl:Class ; PMID:2133536, PMID:6050846, PMID:7724178 ; - oboInOwl:hasDbXref UMLS:C2748801 ; oboInOwl:hasExactSynonym "CFEOM3A", "feom3 locus", "fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement" ; rdfs:subClassOf OMIMPS:135700 ; + skos:exactMatch UMLS:C2748801 ; biolink:category biolink:Disease . OMIM:600669 a owl:Class ; @@ -480968,15 +498320,15 @@ OMIM:600669 a owl:Class ; PMID:8528209, PMID:9546323 ; RO:0002525 CHR:9606chr8q24 ; - oboInOwl:hasDbXref UMLS:C0270850, - UMLS:C2748799, - UMLS:C2748800 ; oboInOwl:hasExactSynonym "EIG", "epilepsy, idiopathic generalized", "epilepsy, idiopathic generalized, susceptibility to, 1", "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 8", "idiopathic generalized epilepsy" ; rdfs:subClassOf OMIMPS:600669 ; + skos:exactMatch UMLS:C0270850, + UMLS:C2748799, + UMLS:C2748800 ; biolink:category biolink:Disease . OMIM:600701 a owl:Class ; @@ -481004,8 +498356,6 @@ OMIM:600701 a owl:Class ; PMID:8550844 ; RO:0002525 CHR:9606chr6p21.31 ; RO:0003303 OMIM:125853 ; - oboInOwl:hasDbXref UMLS:C1333903, - UMLS:C3837967 ; oboInOwl:hasExactSynonym "HMGA1", "high mobility group at-hook 1", "high mobility group protein 1", @@ -481016,7 +498366,10 @@ OMIM:600701 a owl:Class ; "hmgiy" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3159 ; - skos:exactMatch HGNC_symbol:HMGA1 ; + skos:exactMatch UMLS:C1333903, + UMLS:C3837967, + HGNC:5010, + HGNC_symbol:HMGA1 ; biolink:category biolink:Gene . OMIM:600791 a owl:Class ; @@ -481048,12 +498401,12 @@ OMIM:600791 a owl:Class ; PMID:9398842, PMID:9415602, PMID:9500541 ; - oboInOwl:hasDbXref UMLS:C3538946 ; oboInOwl:hasExactSynonym "DFNB4", "deafness, autosomal recessive 4, with enlarged vestibular aqueduct", "dilated vestibular aqueduct", "neurosensory nonsyndromic recessive deafness 4" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C3538946 ; biolink:category biolink:Disease . OMIM:600795 a owl:Class ; @@ -481071,7 +498424,6 @@ OMIM:600795 a owl:Class ; PMID:7470845, PMID:8541850, PMID:9791535 ; - oboInOwl:hasDbXref UMLS:C1833296 ; oboInOwl:hasExactSynonym "FTDALS7", "amyotrophic lateral sclerosis 17, formerly", "amyotrophic lateral sclerosis, chmp2b-related", @@ -481079,6 +498431,7 @@ OMIM:600795 a owl:Class ; "frontotemporal dementia, chromosome 3-linked" ; rdfs:subClassOf OMIMPS:105400, OMIMPS:105550 ; + skos:exactMatch UMLS:C1833296 ; biolink:category biolink:Disease . OMIM:600941 a owl:Class ; @@ -481090,7 +498443,6 @@ OMIM:600941 a owl:Class ; PMID:8117274, PMID:8280170, PMID:869945 ; - oboInOwl:hasDbXref UMLS:C1412802 ; oboInOwl:hasExactSynonym "BLVRB", "biliverdin reductase B", "bvrb", @@ -481099,7 +498451,9 @@ OMIM:600941 a owl:Class ; "nadph-flavin reductase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:645 ; - skos:exactMatch HGNC_symbol:BLVRB ; + skos:exactMatch UMLS:C1412802, + HGNC:1063, + HGNC_symbol:BLVRB ; biolink:category biolink:Gene . OMIM:600994 a owl:Class ; @@ -481120,10 +498474,10 @@ OMIM:600994 a owl:Class ; PMID:8589696, PMID:9450185, PMID:9771715 ; - oboInOwl:hasDbXref UMLS:C1832932 ; oboInOwl:hasExactSynonym "DFNA5", "deafness, autosomal dominant 5" ; rdfs:subClassOf OMIMPS:124900 ; + skos:exactMatch UMLS:C1832932 ; biolink:category biolink:Disease . OMIM:600995 a owl:Class ; @@ -481142,12 +498496,12 @@ OMIM:600995 a owl:Class ; PMID:8589695, PMID:8606597, PMID:997538 ; - oboInOwl:hasDbXref UMLS:C1868672, - UMLS:C3496337 ; oboInOwl:hasExactSynonym "NPHS2", "nephrotic syndrome, iia 2", "nephrotic syndrome, steroid-resistant, autosomal recessive" ; rdfs:subClassOf OMIMPS:256300 ; + skos:exactMatch UMLS:C1868672, + UMLS:C3496337 ; biolink:category biolink:Disease . OMIM:601072 a owl:Class ; @@ -481158,14 +498512,14 @@ OMIM:601072 a owl:Class ; PMID:16021470, PMID:8651303, PMID:8789456 ; - oboInOwl:hasDbXref UMLS:C1832827, - UMLS:C1854414 ; oboInOwl:hasExactSynonym "DFNB8", "deafness, autosomal recessive 10", "deafness, autosomal recessive 8", "deafness, childhood-onset neurosensory, autosomal recessive 8", "neurosensory nonsyndromic recessive deafness 8" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1832827, + UMLS:C1854414 ; biolink:category biolink:Disease . OMIM:601138 a owl:Class ; @@ -481173,14 +498527,15 @@ OMIM:601138 a owl:Class ; IAO:0000142 PMID:7724600, PMID:7982997, PMID:8838319 ; - oboInOwl:hasDbXref UMLS:C3887944 ; oboInOwl:hasExactSynonym "GUCY2EP", "gc-e", "guanylate cyclase 2e, pseudogene", "guanylyl cyclase, membrane, iia e", "gucy2d, mouse, homolog of", "gucy2e" ; - skos:exactMatch HGNC_symbol:GUCY2EP . + skos:exactMatch UMLS:C3887944, + HGNC:4690, + HGNC_symbol:GUCY2EP . OMIM:601186 a owl:Class ; rdfs:label "microphthalmia, syndromic 9" ; @@ -481206,8 +498561,6 @@ OMIM:601186 a owl:Class ; PMID:724287, PMID:7894732, PMID:8882778 ; - oboInOwl:hasDbXref UMLS:C1832661, - UMLS:C3540845 ; oboInOwl:hasExactSynonym "MCOPS9", "anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm", "anophthalmia/microphthalmia and pulmonary hypoplasia", @@ -481219,6 +498572,8 @@ OMIM:601186 a owl:Class ; "spear syndrome" ; rdfs:subClassOf OMIMPS:300345, OMIMPS:309800 ; + skos:exactMatch UMLS:C1832661, + UMLS:C3540845 ; biolink:category biolink:Disease . OMIM:601214 a owl:Class ; @@ -481235,7 +498590,6 @@ OMIM:601214 a owl:Class ; PMID:2945574, PMID:3341172, PMID:8166494 ; - oboInOwl:hasDbXref UMLS:C1832600 ; oboInOwl:hasExactSynonym "NXD", "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities", "keratosis palmoplantaris with arrhythmogenic cardiomyopathy", @@ -481243,6 +498597,7 @@ OMIM:601214 a owl:Class ; "naxos disease", "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair", "woolly hair, palmoplantar keratoderma, and cardiac abnormalities" ; + skos:exactMatch UMLS:C1832600 ; biolink:category biolink:Disease . OMIM:601297 a owl:Class ; @@ -481252,7 +498607,6 @@ OMIM:601297 a owl:Class ; PMID:9730625, PMID:9827568, PMID:9880678 ; - oboInOwl:hasDbXref UMLS:C1420323 ; oboInOwl:hasExactSynonym "SOX15", "sox20", "sox26", @@ -481260,7 +498614,9 @@ OMIM:601297 a owl:Class ; "sry-box 15" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:6665 ; - skos:exactMatch HGNC_symbol:SOX15 ; + skos:exactMatch UMLS:C1420323, + HGNC:11196, + HGNC_symbol:SOX15 ; biolink:category biolink:Gene . OMIM:601410 a owl:Class ; @@ -481290,13 +498646,13 @@ OMIM:601410 a owl:Class ; PMID:9894800 ; RO:0002525 CHR:9606chr6q24 ; RO:0003303 OMIM:601410 ; - oboInOwl:hasDbXref UMLS:C1832386, - ORPHA:99886 ; oboInOwl:hasExactSynonym "6q24-related diabetes mellitus", "TNDM1", "diabetes mellitus, transient neonatal, 1", "dmtn", "tndm" ; + skos:exactMatch UMLS:C1832386, + ORPHA:99886 ; biolink:category biolink:Disease . OMIM:601471 a owl:Class ; @@ -481308,25 +498664,25 @@ OMIM:601471 a owl:Class ; PMID:8872479 ; RO:0002525 CHR:9606chr3q21-q22 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C1832284 ; oboInOwl:hasExactSynonym "HCFP1", "facial palsy, congenital, unilateral or bilateral", "facial paresis, hereditary congenital, 1", "mobius syndrome 2, formerly", "moebius syndrome 2, formerly" ; rdfs:subClassOf OMIMPS:601471 ; + skos:exactMatch UMLS:C1832284 ; biolink:category biolink:Disease . OMIM:601492 a owl:Class ; rdfs:label "mucopolysaccharidosis, iia 9" ; IAO:0000142 PMID:10339581, PMID:8793927 ; - oboInOwl:hasDbXref UMLS:C1291490 ; oboInOwl:hasExactSynonym "MPS9", "hyaluronidase deficiency", "mps 9", "mucopolysaccharidosis, iia 9" ; rdfs:subClassOf OMIMPS:607014 ; + skos:exactMatch UMLS:C1291490 ; biolink:category biolink:Disease . OMIM:601533 a owl:Class ; @@ -481338,14 +498694,15 @@ OMIM:601533 a owl:Class ; PMID:9070941, PMID:9502432, PMID:9743500 ; - oboInOwl:hasDbXref UMLS:C1412189 ; oboInOwl:hasExactSynonym "ADAM2", "a disintegrin and metalloproteinase domain 2", "fertilin, beta", "ph30" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2515 ; - skos:exactMatch HGNC_symbol:ADAM2 ; + skos:exactMatch UMLS:C1412189, + HGNC:198, + HGNC_symbol:ADAM2 ; biolink:category biolink:Gene . OMIM:601547 a owl:Class ; @@ -481357,12 +498714,12 @@ OMIM:601547 a owl:Class ; PMID:8812489, PMID:9158139, PMID:9497271 ; - oboInOwl:hasDbXref UMLS:C1832175 ; oboInOwl:hasExactSynonym "CTRCT3", "cataract 3, multiple types", "cataract 3, multiple types, with or without microcornea", "cataract, congenital, cerulean type, 2" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1832175 ; biolink:category biolink:Disease . OMIM:601776 a owl:Class ; @@ -481386,7 +498743,6 @@ OMIM:601776 a owl:Class ; PMID:30195269, PMID:9084938, PMID:9557891 ; - oboInOwl:hasDbXref UMLS:C1866294 ; oboInOwl:hasExactSynonym "EDSMC1", "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome", "adducted thumb-clubfoot syndrome", @@ -481396,6 +498752,7 @@ OMIM:601776 a owl:Class ; "ehlers-danlos syndrome, iia vib, formerly", "ehlers-danlos syndrome, musculocontractural type, 1" ; rdfs:subClassOf OMIMPS:130000 ; + skos:exactMatch UMLS:C1866294 ; biolink:category biolink:Disease . OMIM:601869 a owl:Class ; @@ -481406,12 +498763,12 @@ OMIM:601869 a owl:Class ; PMID:21660509, PMID:9106521, PMID:9286457 ; - oboInOwl:hasDbXref UMLS:C1866094 ; oboInOwl:hasExactSynonym "DFNB15", "deafness, autosomal recessive 15", "deafness, autosomal recessive 72", "deafness, autosomal recessive 95" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1866094 ; biolink:category biolink:Disease . OMIM:602014 a owl:Class ; @@ -481433,7 +498790,6 @@ OMIM:602014 a owl:Class ; PMID:8168840, PMID:8281387, PMID:9285786 ; - oboInOwl:hasDbXref UMLS:C1865974 ; oboInOwl:hasExactSynonym "HOMG1", "homg", "hypomagnesemia 1, intestinal", @@ -481441,6 +498797,7 @@ OMIM:602014 a owl:Class ; "hypomagnesemia, intestinal, with secondary hypocalcemia", "hypomagnesemic tetany" ; rdfs:subClassOf OMIMPS:602014 ; + skos:exactMatch UMLS:C1865974 ; biolink:category biolink:Disease . OMIM:602080 a owl:Class ; @@ -481453,10 +498810,10 @@ OMIM:602080 a owl:Class ; PMID:25063546, PMID:9345096, PMID:9626621 ; - oboInOwl:hasDbXref UMLS:C4085251 ; oboInOwl:hasExactSynonym "PDB2", "paget disease of bone 2, early-onset" ; rdfs:subClassOf OMIMPS:167250 ; + skos:exactMatch UMLS:C4085251 ; biolink:category biolink:Disease . OMIM:602081 a owl:Class ; @@ -481484,13 +498841,13 @@ OMIM:602081 a owl:Class ; PMID:7846081, PMID:9462748, PMID:9770548 ; - oboInOwl:hasDbXref UMLS:C0750927, - ORPHA:209908 ; oboInOwl:hasExactSynonym "SPCH1", "childhood apraxia of speech", "developmental verbal dyspraxia", "speech and language disorder with orofacial dyspraxia", "speech-language disorder 1" ; + skos:exactMatch UMLS:C0750927, + ORPHA:209908 ; biolink:category biolink:Disease . OMIM:602089 a owl:Class ; @@ -481505,10 +498862,10 @@ OMIM:602089 a owl:Class ; PMID:18931684, PMID:9645641, PMID:9916848 ; - oboInOwl:hasDbXref UMLS:C1865871 ; oboInOwl:hasExactSynonym "hci", "hemangioma, capillary infantile", "hemangioma, hereditary capillary" ; + skos:exactMatch UMLS:C1865871 ; biolink:category biolink:Disease . OMIM:602400 a owl:Class ; @@ -481524,12 +498881,12 @@ OMIM:602400 a owl:Class ; PMID:19434086, PMID:20643494, PMID:9450882 ; - oboInOwl:hasDbXref UMLS:C1835851 ; oboInOwl:hasExactSynonym "ARCI11", "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis", "ichthyosis with hypotrichosis, autosomal recessive", "ichthyosis, congenital, autosomal recessive 11" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C1835851 ; biolink:category biolink:Disease . OMIM:602668 a owl:Class ; @@ -481567,7 +498924,6 @@ OMIM:602668 a owl:Class ; PMID:9620781, PMID:9829283, PMID:9921867 ; - oboInOwl:hasDbXref UMLS:C2931689 ; oboInOwl:hasExactSynonym "DM2", "dystrophia myotonica 2", "myotonic dystrophy 2", @@ -481575,6 +498931,7 @@ OMIM:602668 a owl:Class ; "proximal myotonic myopathy", "ricker syndrome" ; rdfs:subClassOf OMIMPS:160900 ; + skos:exactMatch UMLS:C2931689 ; biolink:category biolink:Disease . OMIM:602782 a owl:Class ; @@ -481600,7 +498957,6 @@ OMIM:602782 a owl:Class ; PMID:22875837, PMID:7524755, PMID:9545394 ; - oboInOwl:hasDbXref UMLS:C1864445 ; oboInOwl:hasExactSynonym "faisalabad histiocytosis", "h syndrome", "histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness", @@ -481610,6 +498966,7 @@ OMIM:602782 a owl:Class ; "pigmented hypertrichosis with insulin-dependent diabetes mellitus", "rosai-dorfman disease, familial", "sinus histiocytosis and massive lymphadenopathy" ; + skos:exactMatch UMLS:C1864445 ; biolink:category biolink:Disease . OMIM:603013 a owl:Class ; @@ -481629,10 +498986,10 @@ OMIM:603013 a owl:Class ; PMID:9731535 ; RO:0002525 CHR:9606chr8p21 ; RO:0003303 OMIM:181500 ; - oboInOwl:hasDbXref UMLS:C1864275 ; oboInOwl:hasExactSynonym "SCZD6", "schizophrenia 6", "schizophrenia susceptibility locus, chromosome 8p-related" ; + skos:exactMatch UMLS:C1864275 ; biolink:category biolink:Disease . OMIM:603041 a owl:Class ; @@ -481667,9 +499024,6 @@ OMIM:603041 a owl:Class ; PMID:9683610, PMID:9781534, PMID:9924029 ; - oboInOwl:hasDbXref UMLS:C0872218, - UMLS:C4551995, - ORPHA:298 ; oboInOwl:hasExactSynonym "MTDPS1", "mitochondrial DNA depletion syndrome 1 (mngie type)", "mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related", @@ -481678,6 +499032,9 @@ OMIM:603041 a owl:Class ; "polip syndrome", "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" ; rdfs:subClassOf OMIMPS:603041 ; + skos:exactMatch UMLS:C0872218, + UMLS:C4551995, + ORPHA:298 ; biolink:category biolink:Disease . OMIM:603147 a owl:Class ; @@ -481691,14 +499048,14 @@ OMIM:603147 a owl:Class ; PMID:21334936, PMID:9710431, PMID:9789065 ; - oboInOwl:hasDbXref UMLS:C2930997, - ORPHA:79320 ; oboInOwl:hasExactSynonym "CDG1C", "carbohydrate-deficient glycoprotein syndrome, iia i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly", "carbohydrate-deficient glycoprotein syndrome, iia v, formerly", "cdg ic", "congenital disorder of glycosylation, iia ic" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C2930997, + ORPHA:79320 ; biolink:category biolink:Disease . OMIM:603233 a owl:Class ; @@ -481733,10 +499090,10 @@ OMIM:603233 a owl:Class ; PMID:8675577, PMID:9100569, PMID:9751745 ; - oboInOwl:hasDbXref UMLS:C1864100 ; oboInOwl:hasExactSynonym "PHP1B", "php 1b", "pseudohypoparathyroidism, iia 1b" ; + skos:exactMatch UMLS:C1864100 ; biolink:category biolink:Disease . OMIM:604131 a owl:Class ; @@ -481744,8 +499101,8 @@ OMIM:604131 a owl:Class ; IAO:0000142 PMID:11283697, PMID:8353312, PMID:9516118 ; - oboInOwl:hasDbXref UMLS:C0002312 ; oboInOwl:hasExactSynonym "alpha-thalassemia" ; + skos:exactMatch UMLS:C0002312 ; biolink:category biolink:Disease . OMIM:604169 a owl:Class ; @@ -481765,11 +499122,11 @@ OMIM:604169 a owl:Class ; PMID:2372897, PMID:29118297, PMID:9005281 ; - oboInOwl:hasDbXref UMLS:C1858725 ; oboInOwl:hasExactSynonym "LVNC1", "left ventricular noncompaction 1", "left ventricular noncompaction 1 with or without congenital heart defects" ; rdfs:subClassOf OMIMPS:604169 ; + skos:exactMatch UMLS:C1858725 ; biolink:category biolink:Disease . OMIM:604233 a owl:Class ; @@ -481781,12 +499138,12 @@ OMIM:604233 a owl:Class ; PMID:9126059, PMID:9697698, PMID:9894880 ; - oboInOwl:hasDbXref UMLS:C1858672, - ORPHA:36387 ; oboInOwl:hasExactSynonym "GEFSP1", "gefs+, iia 1", "generalized epilepsy with febrile seizures plus, iia 1" ; rdfs:subClassOf OMIMPS:604233 ; + skos:exactMatch UMLS:C1858672, + ORPHA:36387 ; biolink:category biolink:Disease . OMIM:604278 a owl:Class ; @@ -481797,9 +499154,9 @@ OMIM:604278 a owl:Class ; PMID:5018384, PMID:5101297, PMID:8142230 ; - oboInOwl:hasDbXref UMLS:C1970309 ; oboInOwl:hasExactSynonym "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation", "rta, proximal, autosomal recessive" ; + skos:exactMatch UMLS:C1970309 ; biolink:category biolink:Disease . OMIM:604286 a owl:Class ; @@ -481819,11 +499176,11 @@ OMIM:604286 a owl:Class ; PMID:7720071, PMID:7795603, PMID:8968749 ; - oboInOwl:hasDbXref UMLS:C1858593 ; oboInOwl:hasExactSynonym "LGMDR4", "muscular dystrophy, limb-girdle, iia 2e", "muscular dystrophy, limb-girdle, autosomal recessive 4" ; rdfs:subClassOf OMIMPS:253600 ; + skos:exactMatch UMLS:C1858593 ; biolink:category biolink:Disease . OMIM:604379 a owl:Class ; @@ -481838,9 +499195,6 @@ OMIM:604379 a owl:Class ; PMID:19365138, PMID:19892526, PMID:21426374 ; - oboInOwl:hasDbXref UMLS:C1836672, - UMLS:C3148823, - UMLS:C3148824 ; oboInOwl:hasExactSynonym "HYPT7", "hypotrichosis 7", "hypotrichosis, autosomal recessive", @@ -481849,6 +499203,9 @@ OMIM:604379 a owl:Class ; "wh/ht", "woolly hair, autosomal recessive 2, with or without hypotrichosis" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C1836672, + UMLS:C3148823, + UMLS:C3148824 ; biolink:category biolink:Disease . OMIM:604563 a owl:Class ; @@ -481861,8 +499218,6 @@ OMIM:604563 a owl:Class ; PMID:17855448, PMID:18349142, PMID:9521281 ; - oboInOwl:hasDbXref UMLS:C1858278, - ORPHA:99956 ; oboInOwl:hasExactSynonym "CMT4B2", "charcot-marie-tooth disease, iia 4b2", "charcot-marie-tooth disease, iia 4b2, with early-onset glaucoma", @@ -481870,6 +499225,8 @@ OMIM:604563 a owl:Class ; "charcot-marie-tooth neuropathy, iia 4b2", "charcot-marie-tooth neuropathy, iia 4b2, with early-onset glaucoma" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C1858278, + ORPHA:99956 ; biolink:category biolink:Disease . OMIM:604680 a owl:Class ; @@ -481877,7 +499234,6 @@ OMIM:604680 a owl:Class ; IAO:0000142 PMID:10543404, PMID:11328870, PMID:8432538 ; - oboInOwl:hasDbXref UMLS:C1418229 ; oboInOwl:hasExactSynonym "PABPC3", "poly(a)-binding protein 3", "polyadenylate-binding protein 3", @@ -481885,20 +499241,23 @@ OMIM:604680 a owl:Class ; "polyadenylate-binding protein-like 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5042 ; - skos:exactMatch HGNC_symbol:PABPC3 ; + skos:exactMatch UMLS:C1418229, + HGNC:8556, + HGNC_symbol:PABPC3 ; biolink:category biolink:Gene . OMIM:604754 a owl:Class ; rdfs:label "zinc finger protein 271, pseudogene" ; IAO:0000142 PMID:11777961, PMID:7865130 ; - oboInOwl:hasDbXref UMLS:C1421757 ; oboInOwl:hasExactSynonym "ZNF271P", "epstein-barr virus-induced zinc finger protein", "hzf7", "zinc finger protein 271", "zinc finger protein 271, pseudogene" ; - skos:exactMatch HGNC_symbol:ZNF271P . + skos:exactMatch UMLS:C1421757, + HGNC:13065, + HGNC_symbol:ZNF271P . OMIM:604777 a owl:Class ; rdfs:label "ichthyosis, congenital, autosomal recessive 5" ; @@ -481910,13 +499269,13 @@ OMIM:604777 a owl:Class ; PMID:18034255, PMID:19434086, PMID:20643494 ; - oboInOwl:hasDbXref UMLS:C1858133 ; oboInOwl:hasExactSynonym "ARCI5", "ichthyosis congenita 3", "ichthyosis, congenital, autosomal recessive 5", "ichthyosis, lamellar, 3, formerly", "ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive" ; rdfs:subClassOf OMIMPS:242300 ; + skos:exactMatch UMLS:C1858133 ; biolink:category biolink:Disease . OMIM:605074 a owl:Class ; @@ -481938,9 +499297,9 @@ OMIM:605074 a owl:Class ; PMID:9390023, PMID:9715275, PMID:9731534 ; - oboInOwl:hasDbXref UMLS:C1336839 ; oboInOwl:hasExactSynonym "RCCP1", "renal cell carcinoma, papillary, 1" ; + skos:exactMatch UMLS:C1336839 ; biolink:category biolink:Disease . OMIM:605376 a owl:Class ; @@ -481948,11 +499307,11 @@ OMIM:605376 a owl:Class ; IAO:0000142 PMID:11062482, PMID:11799476, PMID:9354777 ; - oboInOwl:hasDbXref UMLS:C1415817 ; oboInOwl:hasExactSynonym "HTX2", "heterotaxy, visceral, 2, autosomal", "htx" ; rdfs:subClassOf OMIMPS:306955 ; + skos:exactMatch UMLS:C1415817 ; biolink:category biolink:Disease . OMIM:605472 a owl:Class ; @@ -481970,14 +499329,14 @@ OMIM:605472 a owl:Class ; PMID:22147658, PMID:7901420, PMID:9624053 ; - oboInOwl:hasDbXref UMLS:C2676439, - UMLS:C2931213, - UMLS:C3148929 ; oboInOwl:hasExactSynonym "USH2C", "usher syndrome, iia 2c", "usher syndrome, iia iib, formerly", "usher syndrome, iia iic, gpr98/pdzd7, digenic" ; rdfs:subClassOf OMIMPS:276900 ; + skos:exactMatch UMLS:C2676439, + UMLS:C2931213, + UMLS:C3148929 ; biolink:category biolink:Disease . OMIM:605552 a owl:Class ; @@ -482009,15 +499368,15 @@ OMIM:605552 a owl:Class ; PMID:19247371, PMID:3056758 ; RO:0002525 CHR:9606chr3q27 ; - oboInOwl:hasDbXref UMLS:C1854178, - UMLS:C1970051, - UMLS:C4552048 ; oboInOwl:hasExactSynonym "AOMS1", "abdominal obesity-metabolic syndrome 1", "abdominal obesity-metabolic syndrome quantitative trait locus 1", "metabolic syndrome 10", "metabolic syndrome, protection against" ; rdfs:subClassOf OMIMPS:605552 ; + skos:exactMatch UMLS:C1854178, + UMLS:C1970051, + UMLS:C4552048 ; biolink:category biolink:Disease . OMIM:605606 a owl:Class ; @@ -482030,10 +499389,10 @@ OMIM:605606 a owl:Class ; PMID:18800148, PMID:19169254 ; RO:0002525 CHR:9606chr1p ; - oboInOwl:hasDbXref UMLS:C1854124 ; oboInOwl:hasExactSynonym "PSORS7", "psoriasis 7, susceptibility to" ; rdfs:subClassOf OMIMPS:177900 ; + skos:exactMatch UMLS:C1854124 ; biolink:category biolink:Disease . OMIM:605714 a owl:Class ; @@ -482074,8 +499433,6 @@ OMIM:605714 a owl:Class ; PMID:9189032, PMID:9566379, PMID:9748011 ; - oboInOwl:hasDbXref UMLS:C2751536, - UMLS:C2931672 ; oboInOwl:hasExactSynonym "amyloidosis, cerebroarterial, app-related", "amyloidosis, hereditary, with cerebral hemorrhage, dutch variant", "cerebral amyloid angiopathy, app-related", @@ -482084,6 +499441,8 @@ OMIM:605714 a owl:Class ; "cerebral amyloid angiopathy, app-related, flemish variant", "cerebral amyloid angiopathy, app-related, iowa variant", "cerebral amyloid angiopathy, app-related, italian variant" ; + skos:exactMatch UMLS:C2751536, + UMLS:C2931672 ; biolink:category biolink:Disease . OMIM:606002 a owl:Class ; @@ -482104,13 +499463,13 @@ OMIM:606002 a owl:Class ; PMID:23786967, PMID:7214250, PMID:9708552 ; - oboInOwl:hasDbXref UMLS:C1853761 ; oboInOwl:hasExactSynonym "SCAN2", "ataxia-ocular apraxia 2", "ataxia-oculomotor apraxia 2", "spinocerebellar ataxia, autosomal recessive 1, formerly", "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2" ; rdfs:subClassOf OMIMPS:607250 ; + skos:exactMatch UMLS:C1853761 ; biolink:category biolink:Disease . OMIM:606054 a owl:Class ; @@ -482146,15 +499505,15 @@ OMIM:606054 a owl:Class ; PMID:7361761, PMID:81453, PMID:9727749 ; - oboInOwl:hasDbXref UMLS:C0268579, - UMLS:C4551877, - ORPHA:35 ; oboInOwl:hasExactSynonym "glycinemia, ketotic", "hyperglycinemia with ketoacidosis and leukopenia", "ketotic hyperglycinemia", "pcc deficiency", "propionic acidemia", "propionyl-coa carboxylase deficiency" ; + skos:exactMatch UMLS:C0268579, + UMLS:C4551877, + ORPHA:35 ; biolink:category biolink:Disease . OMIM:606072 a owl:Class ; @@ -482175,12 +499534,12 @@ OMIM:606072 a owl:Class ; PMID:7936247, PMID:9536092, PMID:9537420 ; - oboInOwl:hasDbXref UMLS:C1832560, - UMLS:C1853698 ; oboInOwl:hasExactSynonym "RMD2", "muscular dystrophy, limb-girdle, iia 1c, formerly", "rippling muscle disease", "rippling muscle disease 2" ; + skos:exactMatch UMLS:C1832560, + UMLS:C1853698 ; biolink:category biolink:Disease . OMIM:606641 a owl:Class ; @@ -482203,11 +499562,11 @@ OMIM:606641 a owl:Class ; PMID:9758619, PMID:9806549 ; RO:0002525 CHR:9606chr7q32.3 ; - oboInOwl:hasDbXref UMLS:C1305855, - UMLS:C3888010 ; oboInOwl:hasExactSynonym "BMIQ1", "body mass index", "body mass index quantitative trait locus 1" ; + skos:exactMatch UMLS:C1305855, + UMLS:C3888010 ; biolink:category biolink:Disease . OMIM:606657 a owl:Class ; @@ -482220,10 +499579,10 @@ OMIM:606657 a owl:Class ; PMID:7704921, PMID:8695555, PMID:9479277 ; - oboInOwl:hasDbXref UMLS:C1847730 ; oboInOwl:hasExactSynonym "glaucoma, normal pressure, susceptibility to", "glaucoma, normal tension, susceptibility to", "ntg" ; + skos:exactMatch UMLS:C1847730 ; biolink:category biolink:Disease . OMIM:606788 a owl:Class ; @@ -482242,11 +499601,11 @@ OMIM:606788 a owl:Class ; PMID:7793446, PMID:9672050 ; RO:0002525 CHR:9606chr1p ; - oboInOwl:hasDbXref UMLS:C1847492 ; oboInOwl:hasExactSynonym "ANON", "an", "anorexia nervosa, susceptibility to", "anorexia nervosa, susceptibility to, 1" ; + skos:exactMatch UMLS:C1847492 ; biolink:category biolink:Disease . OMIM:606952 a owl:Class ; @@ -482263,10 +499622,6 @@ OMIM:606952 a owl:Class ; PMID:666627, PMID:6770679, PMID:9158138 ; - oboInOwl:hasDbXref UMLS:C1847024, - ORPHA:352731, - ORPHA:352737, - ORPHA:79434 ; oboInOwl:hasExactSynonym "OCA1B", "albinism, oculocutaneous, iia 1b", "albinism, oculocutaneous, iia i, temperature-sensitive", @@ -482275,6 +499630,10 @@ OMIM:606952 a owl:Class ; "oculocutaneous albinism, iia 1b", "yellow albinism" ; rdfs:subClassOf OMIMPS:203100 ; + skos:exactMatch UMLS:C1847024, + ORPHA:352731, + ORPHA:352737, + ORPHA:79434 ; biolink:category biolink:Disease . OMIM:606963 a owl:Class ; @@ -482303,15 +499662,15 @@ OMIM:606963 a owl:Class ; PMID:21690325, PMID:22140090 ; RO:0002525 CHR:9606chr2q ; - oboInOwl:hasDbXref UMLS:C0024117, - UMLS:C1847014, - UMLS:C1969833, - UMLS:C2751329 ; oboInOwl:hasExactSynonym "COPD", "copd, severe early-onset", "pulmonary disease, chronic obstructive", "pulmonary disease, chronic obstructive, rate of decline of lung function 1n", "pulmonary disease, chronic obstructive, severe early-onset" ; + skos:exactMatch UMLS:C0024117, + UMLS:C1847014, + UMLS:C1969833, + UMLS:C2751329 ; biolink:category biolink:Disease . OMIM:607136 a owl:Class ; @@ -482344,14 +499703,14 @@ OMIM:607136 a owl:Class ; PMID:426487, PMID:4910986, PMID:6937161 ; - oboInOwl:hasDbXref UMLS:C1846707, - ORPHA:98759 ; oboInOwl:hasExactSynonym "SCA17", "cerebelloparenchymal disorder 2", "huntington disease-like 4", "olivopontocerebellar atrophy 5", "spinocerebellar ataxia 17" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C1846707, + ORPHA:98759 ; biolink:category biolink:Disease . OMIM:607278 a owl:Class ; @@ -482365,11 +499724,11 @@ OMIM:607278 a owl:Class ; PMID:8245051, PMID:8276381, PMID:9234973 ; - oboInOwl:hasDbXref UMLS:C4085248 ; oboInOwl:hasExactSynonym "OSFD", "ofd", "osteofibrous dysplasia, susceptibility to", "tibia, bowing of, with pseudarthrosis and pectus excavatum" ; + skos:exactMatch UMLS:C4085248 ; biolink:category biolink:Disease . OMIM:607313 a owl:Class ; @@ -482382,13 +499741,13 @@ OMIM:607313 a owl:Class ; PMID:4421461, PMID:4434049, PMID:537018 ; - oboInOwl:hasDbXref UMLS:C4551964, - UMLS:C4760875 ; oboInOwl:hasExactSynonym "HGPPS1", "gaze palsy, familial horizontal, with progressive scoliosis 1", "hgpps", "ophthalmoplegia, progressive external, and scoliosis" ; rdfs:subClassOf OMIMPS:607313 ; + skos:exactMatch UMLS:C4551964, + UMLS:C4760875 ; biolink:category biolink:Disease . OMIM:607323 a owl:Class ; @@ -482410,16 +499769,16 @@ OMIM:607323 a owl:Class ; PMID:6426304, PMID:843249, PMID:8882787 ; - oboInOwl:hasDbXref UMLS:C0751084, - UMLS:C1623209, - ORPHA:93293, - ORPHA:959 ; oboInOwl:hasExactSynonym "DRRS", "acrorenoocular syndrome", "dr syndrome", "duane anomaly with radial ray abnormalities and deafness", "duane-radial ray syndrome", "okihiro syndrome" ; + skos:exactMatch UMLS:C0751084, + UMLS:C1623209, + ORPHA:93293, + ORPHA:959 ; biolink:category biolink:Disease . OMIM:607499 a owl:Class ; @@ -482437,12 +499796,12 @@ OMIM:607499 a owl:Class ; PMID:9672050, PMID:9861464 ; RO:0002525 CHR:9606chr10p ; - oboInOwl:hasDbXref UMLS:C1843776, - UMLS:C4551963 ; oboInOwl:hasExactSynonym "BULN", "bn", "bulimia nervosa, susceptibility to", "bulimia nervosa, susceptibility to, 1" ; + skos:exactMatch UMLS:C1843776, + UMLS:C4551963 ; biolink:category biolink:Disease . OMIM:607596 a owl:Class ; @@ -482454,13 +499813,13 @@ OMIM:607596 a owl:Class ; PMID:21937992, PMID:2407400, PMID:8147499 ; - oboInOwl:hasDbXref UMLS:C1843504 ; oboInOwl:hasExactSynonym "PCH1A", "pch1", "pontocerebellar hypoplasia with anterior horn cell disease", "pontocerebellar hypoplasia with infantile spinal muscular atrophy", "pontocerebellar hypoplasia, iia 1a" ; rdfs:subClassOf OMIMPS:607596 ; + skos:exactMatch UMLS:C1843504 ; biolink:category biolink:Disease . OMIM:607624 a owl:Class ; @@ -482480,13 +499839,13 @@ OMIM:607624 a owl:Class ; PMID:8446567, PMID:8597818, PMID:9486701 ; - oboInOwl:hasDbXref UMLS:C1868679 ; oboInOwl:hasExactSynonym "GS2", "griscelli syndrome with hemophagocytic syndrome", "griscelli syndrome, iia 2", "paid syndrome", "partial albinism and immunodeficiency syndrome" ; rdfs:subClassOf OMIMPS:214450 ; + skos:exactMatch UMLS:C1868679 ; biolink:category biolink:Disease . OMIM:607676 a owl:Class ; @@ -482506,14 +499865,14 @@ OMIM:607676 a owl:Class ; PMID:26825884, PMID:9103466, PMID:9789052 ; - oboInOwl:hasDbXref UMLS:C1843256, - ORPHA:70592 ; oboInOwl:hasExactSynonym "IMD67", "immunodeficiency 67", "invasive pneumococcal disease, protection against", "invasive pneumococcal disease, recurrent isolated", "irak4 deficiency" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C1843256, + ORPHA:70592 ; biolink:category biolink:Disease . OMIM:607681 a owl:Class ; @@ -482529,9 +499888,6 @@ OMIM:607681 a owl:Class ; PMID:23708187, PMID:8404731, PMID:9894880 ; - oboInOwl:hasDbXref UMLS:C1843244, - UMLS:C1858674, - UMLS:C1969810 ; oboInOwl:hasExactSynonym "FEB8", "epilepsy, childhood absence, susceptibility to, 2", "febrile seizures, familial, 8", @@ -482540,6 +499896,9 @@ OMIM:607681 a owl:Class ; rdfs:subClassOf OMIMPS:121210, OMIMPS:600131, OMIMPS:604233 ; + skos:exactMatch UMLS:C1843244, + UMLS:C1858674, + UMLS:C1969810 ; biolink:category biolink:Disease . OMIM:607745 a owl:Class ; @@ -482553,14 +499912,14 @@ OMIM:607745 a owl:Class ; PMID:6660252, PMID:8293192, PMID:8734025 ; - oboInOwl:hasDbXref UMLS:C1843140, - ORPHA:140927, - ORPHA:306 ; oboInOwl:hasExactSynonym "BFIS3", "convulsions, benign familial infantile, 3", "seizures, benign familial infantile, 3", "seizures, benign familial neonatal-infantile" ; rdfs:subClassOf OMIMPS:601764 ; + skos:exactMatch UMLS:C1843140, + ORPHA:140927, + ORPHA:306 ; biolink:category biolink:Disease . OMIM:607765 a owl:Class ; @@ -482572,11 +499931,11 @@ OMIM:607765 a owl:Class ; PMID:3470305, PMID:4795443, PMID:7915305 ; - oboInOwl:hasDbXref UMLS:C1843116 ; oboInOwl:hasExactSynonym "3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency", "CBAS1", "bile acid synthesis defect, congenital, 1" ; rdfs:subClassOf OMIMPS:607765 ; + skos:exactMatch UMLS:C1843116 ; biolink:category biolink:Disease . OMIM:607903 a owl:Class ; @@ -482589,7 +499948,6 @@ OMIM:607903 a owl:Class ; PMID:16575393, PMID:17392831, PMID:17594396 ; - oboInOwl:hasDbXref UMLS:C1842839 ; oboInOwl:hasExactSynonym "HYPT6", "htl", "hypotrichosis 6", @@ -482597,6 +499955,7 @@ OMIM:607903 a owl:Class ; "hypotrichosis, localized, autosomal recessive 1", "monilethrix-like hypotrichosis" ; rdfs:subClassOf OMIMPS:605389 ; + skos:exactMatch UMLS:C1842839 ; biolink:category biolink:Disease . OMIM:607944 a owl:Class ; @@ -482626,13 +499985,13 @@ OMIM:607944 a owl:Class ; PMID:733398, PMID:7463391, PMID:9716637 ; - oboInOwl:hasDbXref UMLS:C1842763 ; oboInOwl:hasExactSynonym "SPENCDI", "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia", "roifman immunoskeletal syndrome", "spencd", "spondyloenchondrodysplasia with immune dysregulation" ; rdfs:subClassOf OMIMPS:184255 ; + skos:exactMatch UMLS:C1842763 ; biolink:category biolink:Disease . OMIM:608089 a owl:Class ; @@ -482647,8 +500006,8 @@ OMIM:608089 a owl:Class ; PMID:23636398, PMID:32350471, PMID:9498630 ; - oboInOwl:hasDbXref UMLS:C0476089 ; oboInOwl:hasExactSynonym "endometrial cancer" ; + skos:exactMatch UMLS:C0476089 ; biolink:category biolink:Disease . OMIM:608175 a owl:Class ; @@ -482661,9 +500020,9 @@ OMIM:608175 a owl:Class ; PMID:14657345, PMID:15294872, PMID:15579800 ; - oboInOwl:hasDbXref UMLS:C1842444 ; oboInOwl:hasExactSynonym "AITD3", "autoimmune thyroid disease, susceptibility to, 3" ; + skos:exactMatch UMLS:C1842444 ; biolink:category biolink:Disease . OMIM:608232 a owl:Class ; @@ -482717,14 +500076,14 @@ OMIM:608232 a owl:Class ; PMID:8183938, PMID:9310467, PMID:9326218 ; - oboInOwl:hasDbXref UMLS:C0023473, - UMLS:C1292772, - UMLS:C5193152 ; oboInOwl:hasExactSynonym "CML", "leukemia, chronic myelogenous", "leukemia, chronic myeloid", "leukemia, chronic myeloid, atypical", "leukemia, philadelphia chromosome-positive, resistant to imatanib" ; + skos:exactMatch UMLS:C0023473, + UMLS:C1292772, + UMLS:C5193152 ; biolink:category biolink:Disease . OMIM:608233 a owl:Class ; @@ -482738,10 +500097,10 @@ OMIM:608233 a owl:Class ; PMID:16537806, PMID:16551969, PMID:8042664 ; - oboInOwl:hasDbXref UMLS:C1842362 ; oboInOwl:hasExactSynonym "HPS2", "hermansky-pudlak syndrome 2" ; rdfs:subClassOf OMIMPS:203300 ; + skos:exactMatch UMLS:C1842362 ; biolink:category biolink:Disease . OMIM:608328 a owl:Class ; @@ -482753,7 +500112,6 @@ OMIM:608328 a owl:Class ; PMID:1519650, PMID:3493095, PMID:8914744 ; - oboInOwl:hasDbXref UMLS:C1869115 ; oboInOwl:hasExactSynonym "WMS2", "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome", "mesodermal dysmorphodystrophy, congenital", @@ -482761,6 +500119,7 @@ OMIM:608328 a owl:Class ; "weill-marchesani syndrome 2", "weill-marchesani syndrome, autosomal dominant" ; rdfs:subClassOf OMIMPS:277600 ; + skos:exactMatch UMLS:C1869115 ; biolink:category biolink:Disease . OMIM:608354 a owl:Class ; @@ -482773,22 +500132,22 @@ OMIM:608354 a owl:Class ; PMID:24038909, PMID:28779187, PMID:9989629 ; - oboInOwl:hasDbXref UMLS:C1842180, - UMLS:C4747394 ; oboInOwl:hasExactSynonym "CMAVM1", "capillary malformation-arteriovenous malformation", "capillary malformation-arteriovenous malformation 1" ; rdfs:subClassOf OMIMPS:608354 ; + skos:exactMatch UMLS:C1842180, + UMLS:C4747394 ; biolink:category biolink:Disease . OMIM:608415 a owl:Class ; rdfs:label "prolonged electroretinal response suppression" ; IAO:0000142 PMID:14702087, PMID:1790747 ; - oboInOwl:hasDbXref UMLS:C1842073 ; oboInOwl:hasExactSynonym "PERRS", "bradyopsia", "prolonged electroretinal response suppression" ; + skos:exactMatch UMLS:C1842073 ; biolink:category biolink:Disease . OMIM:608572 a owl:Class ; @@ -482799,11 +500158,11 @@ OMIM:608572 a owl:Class ; PMID:17022072, PMID:17022074, PMID:25434003 ; - oboInOwl:hasDbXref UMLS:C1835913, - UMLS:C1837822 ; oboInOwl:hasExactSynonym "BMKS", "burn-mckeown syndrome", "oculootofacial dysplasia" ; + skos:exactMatch UMLS:C1835913, + UMLS:C1837822 ; biolink:category biolink:Disease . OMIM:608579 a owl:Class ; @@ -482824,14 +500183,14 @@ OMIM:608579 a owl:Class ; PMID:8006430, PMID:8420497, PMID:9774279 ; - oboInOwl:hasDbXref UMLS:C1837818, - UMLS:C1840548, - UMLS:C2608081, - UMLS:C3277286 ; oboInOwl:hasExactSynonym "hypersensitivity syndrome, carbamazepine-induced, susceptibility to", "severe cutaneous adverse reaction, susceptibility to", "stevens-johnson syndrome, susceptibility to", "toxic epidermal necrolysis, susceptibility to" ; + skos:exactMatch UMLS:C1837818, + UMLS:C1840548, + UMLS:C2608081, + UMLS:C3277286 ; biolink:category biolink:Disease . OMIM:608644 a owl:Class ; @@ -482844,11 +500203,11 @@ OMIM:608644 a owl:Class ; PMID:18037990, PMID:19357118, PMID:23261302 ; - oboInOwl:hasDbXref UMLS:C1837618 ; oboInOwl:hasExactSynonym "CILD3", "ciliary dyskinesia, primary, 3", "ciliary dyskinesia, primary, 3, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C1837618 ; biolink:category biolink:Disease . OMIM:608653 a owl:Class ; @@ -482856,12 +500215,12 @@ OMIM:608653 a owl:Class ; IAO:0000142 PMID:12634867, PMID:27259055, PMID:29293958 ; - oboInOwl:hasDbXref UMLS:C1837608 ; oboInOwl:hasExactSynonym "DFNB32", "deafness, autosomal recessive 105, formerly", "deafness, autosomal recessive 32, with or without immotile sperm", "hearing impairment infertile male syndrome" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C1837608 ; biolink:category biolink:Disease . OMIM:608931 a owl:Class ; @@ -482883,15 +500242,15 @@ OMIM:608931 a owl:Class ; PMID:9097970, PMID:9158150, PMID:9443457 ; - oboInOwl:hasDbXref UMLS:C1837091, - ORPHA:590, - ORPHA:98913 ; oboInOwl:hasExactSynonym "CMS4C", "cms id, formerly", "myasthenia, familial infantile, 1, formerly", "myasthenic syndrome, congenital, iia id", "myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency" ; rdfs:subClassOf OMIMPS:601462 ; + skos:exactMatch UMLS:C1837091, + ORPHA:590, + ORPHA:98913 ; biolink:category biolink:Disease . OMIM:609015 a owl:Class ; @@ -482916,12 +500275,12 @@ OMIM:609015 a owl:Class ; PMID:9259266, PMID:9305349, PMID:9739053 ; - oboInOwl:hasDbXref UMLS:C1969443, - ORPHA:746 ; oboInOwl:hasExactSynonym "MTPD", "mitochondrial trifunctional protein deficiency", "trifunctional protein deficiency", "trifunctional protein deficiency with myopathy and neuropathy" ; + skos:exactMatch UMLS:C1969443, + ORPHA:746 ; biolink:category biolink:Disease . OMIM:609122 a owl:Class ; @@ -482934,20 +500293,20 @@ OMIM:609122 a owl:Class ; PMID:7373374 ; RO:0002525 CHR:9606chr1p36.13-p34.3 ; RO:0003303 OMIM:3 ; - oboInOwl:hasDbXref UMLS:C1836757 ; oboInOwl:hasExactSynonym "ANIB3", "aneurysm, intracranial berry, 3" ; rdfs:subClassOf OMIMPS:105800 ; + skos:exactMatch UMLS:C1836757 ; biolink:category biolink:Disease . OMIM:609528 a owl:Class ; rdfs:label "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" ; IAO:0000142 PMID:15968592, PMID:21073448 ; - oboInOwl:hasDbXref UMLS:C1836033 ; oboInOwl:hasExactSynonym "CEDNIK", "cednik syndrome", "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" ; + skos:exactMatch UMLS:C1836033 ; biolink:category biolink:Disease . OMIM:609532 a owl:Class ; @@ -483000,12 +500359,12 @@ OMIM:609532 a owl:Class ; PMID:25416947, PMID:26868272, PMID:9794763 ; - oboInOwl:hasDbXref UMLS:C1835407 ; oboInOwl:hasExactSynonym "hcv, resistance to", "hcv, susceptibility to", "hepatitis c virus infection, response to therapy of", "hepatitis c virus, resistance to", "hepatitis c virus, susceptibility to" ; + skos:exactMatch UMLS:C1835407 ; biolink:category biolink:Disease . OMIM:610168 a owl:Class ; @@ -483035,27 +500394,28 @@ OMIM:610168 a owl:Class ; PMID:8317497, PMID:8946175, PMID:9217007 ; - oboInOwl:hasDbXref UMLS:C2674574 ; oboInOwl:hasExactSynonym "LDS2", "aortic aneurysm, familial thoracic 3", "loeys-dietz syndrome 2", "marfan syndrome, iia ii, formerly" ; rdfs:subClassOf OMIMPS:607086, OMIMPS:609192 ; + skos:exactMatch UMLS:C2674574 ; biolink:category biolink:Disease . OMIM:610414 a owl:Class ; rdfs:label "NBPF15" ; IAO:0000142 PMID:16079250, PMID:16946073 ; - oboInOwl:hasDbXref UMLS:C1826373 ; oboInOwl:hasExactSynonym "NBPF15", "mgc8902", "neuroblastoma breakpoint family, member 15", "neuroblastoma breakpoint family, member 16" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:284565 ; - skos:exactMatch HGNC_symbol:NBPF15 ; + skos:exactMatch UMLS:C1826373, + HGNC:28791, + HGNC_symbol:NBPF15 ; biolink:category biolink:Gene . OMIM:610424 a owl:Class ; @@ -483074,13 +500434,13 @@ OMIM:610424 a owl:Class ; PMID:21059892, PMID:7934542, PMID:9288086 ; - oboInOwl:hasDbXref UMLS:C1864880, - UMLS:C3552303, - UMLS:C3552304 ; oboInOwl:hasExactSynonym "hbv, resistance to", "hbv, susceptibility to", "hepatitis B virus, resistance to", "hepatitis B virus, susceptibility to" ; + skos:exactMatch UMLS:C1864880, + UMLS:C3552303, + UMLS:C3552304 ; biolink:category biolink:Disease . OMIM:610425 a owl:Class ; @@ -483088,11 +500448,11 @@ OMIM:610425 a owl:Class ; IAO:0000142 PMID:15452067, PMID:16960806, PMID:20577656 ; - oboInOwl:hasDbXref UMLS:C3808012 ; oboInOwl:hasExactSynonym "CTRCT23", "cataract 23, multiple types", "cataract 23, multiple types, with or without microcornea" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C3808012 ; biolink:category biolink:Disease . OMIM:610681 a owl:Class ; @@ -483120,14 +500480,15 @@ OMIM:610681 a owl:Class ; PMID:9443500 ; RO:0002525 CHR:9606chr12q13.11 ; RO:0003303 OMIM:232800 ; - oboInOwl:hasDbXref UMLS:C1418492 ; oboInOwl:hasExactSynonym "PFKM", "pfk, muscle iia", "pfk1", "phosphofructokinase, muscle iia" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:5213 ; - skos:exactMatch HGNC_symbol:PFKM ; + skos:exactMatch UMLS:C1418492, + HGNC:8877, + HGNC_symbol:PFKM ; biolink:category biolink:Gene . OMIM:610682 a owl:Class ; @@ -483139,12 +500500,12 @@ OMIM:610682 a owl:Class ; PMID:21955071, PMID:23054245, PMID:25604815 ; - oboInOwl:hasDbXref UMLS:C1853162 ; oboInOwl:hasExactSynonym "OI7", "oi, iia 7", "osteogenesis imperfecta, iia 7", "osteogenesis imperfecta, iia iib, formerly" ; rdfs:subClassOf OMIMPS:166200 ; + skos:exactMatch UMLS:C1853162 ; biolink:category biolink:Disease . OMIM:610733 a owl:Class ; @@ -483157,11 +500518,11 @@ OMIM:610733 a owl:Class ; PMID:19438935, PMID:25862627, PMID:28884940 ; - oboInOwl:hasDbXref UMLS:C1853120, - ORPHA:648 ; oboInOwl:hasExactSynonym "NS4", "noonan syndrome 4" ; rdfs:subClassOf OMIMPS:163950 ; + skos:exactMatch UMLS:C1853120, + ORPHA:648 ; biolink:category biolink:Disease . OMIM:611884 a owl:Class ; @@ -483173,11 +500534,11 @@ OMIM:611884 a owl:Class ; PMID:22102620, PMID:8192752, PMID:9585585 ; - oboInOwl:hasDbXref UMLS:C2678473 ; oboInOwl:hasExactSynonym "CILD7", "ciliary dyskinesia, primary, 7", "ciliary dyskinesia, primary, 7, with or without situs inversus" ; rdfs:subClassOf OMIMPS:244400 ; + skos:exactMatch UMLS:C2678473 ; biolink:category biolink:Disease . OMIM:612052 a owl:Class ; @@ -483192,12 +500553,12 @@ OMIM:612052 a owl:Class ; PMID:20418888, PMID:20418889, PMID:20418890 ; - oboInOwl:hasDbXref UMLS:C2677571, - UMLS:C3150168 ; oboInOwl:hasExactSynonym "SQTL3", "lung cancer susceptibility 2", "nicotine dependence, susceptibility to", "smoking as a quantitative trait locus 3" ; + skos:exactMatch UMLS:C2677571, + UMLS:C3150168 ; biolink:category biolink:Disease . OMIM:612237 a owl:Class ; @@ -483213,9 +500574,9 @@ OMIM:612237 a owl:Class ; PMID:7539287, PMID:7635565, PMID:8634690 ; - oboInOwl:hasDbXref UMLS:C1275278 ; oboInOwl:hasExactSynonym "chondrosarcoma, extraskeletal myxoid", "emc" ; + skos:exactMatch UMLS:C1275278 ; biolink:category biolink:Disease . OMIM:612289 a owl:Class ; @@ -483236,13 +500597,13 @@ OMIM:612289 a owl:Class ; PMID:29100094, PMID:569581, PMID:7554354 ; - oboInOwl:hasDbXref UMLS:C0345382, - UMLS:C2676780 ; oboInOwl:hasExactSynonym "FPS", "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence", "fontaine progeroid syndrome", "gorlin-chaudhry-moss syndrome", "progeroid syndrome, congenital, petty iia" ; + skos:exactMatch UMLS:C0345382, + UMLS:C2676780 ; biolink:category biolink:Disease . OMIM:612319 a owl:Class ; @@ -483255,15 +500616,15 @@ OMIM:612319 a owl:Class ; PMID:23745665, PMID:24359114, PMID:29395073 ; - oboInOwl:hasDbXref UMLS:C3496228, - UMLS:C3668943, - ORPHA:171629, - ORPHA:329308 ; oboInOwl:hasExactSynonym "SPG35", "fatty acid hydroxylase-associated neurodegeneration", "leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia", "spastic paraplegia 35, autosomal recessive, with or without neurodegeneration" ; rdfs:subClassOf OMIMPS:303350 ; + skos:exactMatch UMLS:C3496228, + UMLS:C3668943, + ORPHA:171629, + ORPHA:329308 ; biolink:category biolink:Disease . OMIM:612376 a owl:Class ; @@ -483281,10 +500642,10 @@ OMIM:612376 a owl:Class ; PMID:8180390, PMID:8387545, PMID:9288109 ; - oboInOwl:hasDbXref UMLS:C0023487 ; oboInOwl:hasExactSynonym "APL", "acute promyelocytic leukemia", "leukemia, acute promyelocytic" ; + skos:exactMatch UMLS:C0023487 ; biolink:category biolink:Disease . OMIM:612541 a owl:Class ; @@ -483296,23 +500657,23 @@ OMIM:612541 a owl:Class ; PMID:20717171, PMID:20799326, PMID:30626647 ; - oboInOwl:hasDbXref UMLS:C2675526, - ORPHA:178503, - ORPHA:331176 ; oboInOwl:hasExactSynonym "SCN4", "dursun syndrome", "neutropenia, severe congenital, 4, autosomal recessive", "pulmonary arterial hypertension, leukopenia, and atrial septal defect" ; rdfs:subClassOf OMIMPS:202700 ; + skos:exactMatch UMLS:C2675526, + ORPHA:178503, + ORPHA:331176 ; biolink:category biolink:Disease . OMIM:612900 a owl:Class ; rdfs:label "cerebral palsy, spastic quadriplegic, 2" ; IAO:0000142 PMID:16301218 ; - oboInOwl:hasDbXref UMLS:C2752061 ; oboInOwl:hasExactSynonym "CPSQ2", "cerebral palsy, spastic quadriplegic, 2" ; rdfs:subClassOf OMIMPS:612900 ; + skos:exactMatch UMLS:C2752061 ; biolink:category biolink:Disease . OMIM:613090 a owl:Class ; @@ -483322,10 +500683,10 @@ OMIM:613090 a owl:Class ; PMID:22282380, PMID:8841184, PMID:9326936 ; - oboInOwl:hasDbXref UMLS:C4310805 ; oboInOwl:hasExactSynonym "BARTS4B", "bartter syndrome, iia 4b, neonatal, with sensorineural deafness" ; rdfs:subClassOf OMIMPS:601678 ; + skos:exactMatch UMLS:C4310805 ; biolink:category biolink:Disease . OMIM:613179 a owl:Class ; @@ -483356,9 +500717,9 @@ OMIM:613179 a owl:Class ; PMID:9122228, PMID:96131, PMID:9737781 ; - oboInOwl:hasDbXref UMLS:C0268125 ; oboInOwl:hasExactSynonym "nucleoside phosphorylase deficiency", "purine nucleoside phosphorylase deficiency" ; + skos:exactMatch UMLS:C0268125 ; biolink:category biolink:Disease . OMIM:613658 a owl:Class ; @@ -483367,9 +500728,6 @@ OMIM:613658 a owl:Class ; PMID:29573043, PMID:29979980, PMID:30014610 ; - oboInOwl:hasDbXref UMLS:C3150910, - UMLS:C5436276, - ORPHA:178506 ; oboInOwl:hasExactSynonym "RILDBC1", "developmental delay, small stature, microcephaly, and brain calcifications, formerly", "neurodevelopmental disorder with brain, liver, and lung abnormalities, formerly", @@ -483377,6 +500735,9 @@ OMIM:613658 a owl:Class ; "rajab interstitial lung disease with brain calcifications 1", "rajab syndrome" ; rdfs:subClassOf OMIMPS:613658 ; + skos:exactMatch UMLS:C3150910, + UMLS:C5436276, + ORPHA:178506 ; biolink:category biolink:Disease . OMIM:613659 a owl:Class ; @@ -483417,10 +500778,10 @@ OMIM:613659 a owl:Class ; PMID:8938136, PMID:9377564, PMID:9679752 ; - oboInOwl:hasDbXref UMLS:C0024623, - UMLS:C3150911 ; oboInOwl:hasExactSynonym "gastric cancer", "gastric cancer, intestinal" ; + skos:exactMatch UMLS:C0024623, + UMLS:C3150911 ; biolink:category biolink:Disease . OMIM:613688 a owl:Class ; @@ -483445,12 +500806,6 @@ OMIM:613688 a owl:Class ; PMID:9927398, PMID:9927399, PMID:9950666 ; - oboInOwl:hasDbXref UMLS:C3150943, - UMLS:C3276240, - UMLS:C3277700, - UMLS:C3279092, - UMLS:C3279093, - UMLS:C3888153 ; oboInOwl:hasExactSynonym "LQT2", "long qt syndrome 1/2, digenic", "long qt syndrome 2", @@ -483459,6 +500814,12 @@ OMIM:613688 a owl:Class ; "long qt syndrome 2/5, digenic", "long qt syndrome 2/9, digenic" ; rdfs:subClassOf OMIMPS:192500 ; + skos:exactMatch UMLS:C3150943, + UMLS:C3276240, + UMLS:C3277700, + UMLS:C3279092, + UMLS:C3279093, + UMLS:C3888153 ; biolink:category biolink:Disease . OMIM:614079 a owl:Class ; @@ -483473,8 +500834,8 @@ OMIM:614079 a owl:Class ; PMID:19202580, PMID:20807886, PMID:29489751 ; - oboInOwl:hasDbXref UMLS:C3279774 ; oboInOwl:hasExactSynonym "aspergillosis, susceptibility to" ; + skos:exactMatch UMLS:C3279774 ; biolink:category biolink:Disease . OMIM:614266 a owl:Class ; @@ -483495,20 +500856,20 @@ OMIM:614266 a owl:Class ; PMID:6337489, PMID:6683290, PMID:6886360 ; - oboInOwl:hasDbXref UMLS:C0004763, - UMLS:C0279628 ; oboInOwl:hasExactSynonym "adenocarcinoma of esophagus", "barrett esophagus", "barrett metaplasia" ; + skos:exactMatch UMLS:C0004763, + UMLS:C0279628 ; biolink:category biolink:Disease . OMIM:614300 a owl:Class ; rdfs:label "hypermethioninemia due to adenosine kinase deficiency" ; IAO:0000142 PMID:17120046, PMID:21963049 ; - oboInOwl:hasDbXref UMLS:C3280381 ; oboInOwl:hasExactSynonym "hypermethioninemia due to adenosine kinase deficiency", "mental retardation, autosomal recessive 8, formerly" ; + skos:exactMatch UMLS:C3280381 ; biolink:category biolink:Disease . OMIM:614381 a owl:Class ; @@ -483518,12 +500879,12 @@ OMIM:614381 a owl:Class ; PMID:22036172, PMID:25339210, PMID:27512013 ; - oboInOwl:hasDbXref UMLS:C3280644 ; oboInOwl:hasExactSynonym "4h leukodystrophy 2", "HLD8", "cerebellar hypoplasia with endosteal sclerosis", "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" ; rdfs:subClassOf OMIMPS:312080 ; + skos:exactMatch UMLS:C3280644 ; biolink:category biolink:Disease . OMIM:614436 a owl:Class ; @@ -483534,12 +500895,12 @@ OMIM:614436 a owl:Class ; PMID:22781092, PMID:27686364, PMID:3022865 ; - oboInOwl:hasDbXref UMLS:C3280797 ; oboInOwl:hasExactSynonym "CMT2P", "charcot-marie-tooth disease, axonal, iia 2g, formerly", "charcot-marie-tooth disease, axonal, iia 2p", "charcot-marie-tooth neuropathy, iia 2p" ; rdfs:subClassOf OMIMPS:118220 ; + skos:exactMatch UMLS:C3280797 ; biolink:category biolink:Disease . OMIM:614493 a owl:Class ; @@ -483547,12 +500908,12 @@ OMIM:614493 a owl:Class ; IAO:0000142 PMID:1515642, PMID:22231303, PMID:27742395 ; - oboInOwl:hasDbXref UMLS:C3281001, - ORPHA:906 ; oboInOwl:hasExactSynonym "WAS2", "wip deficiency", "wipf1 deficiency", "wiskott-aldrich syndrome 2" ; + skos:exactMatch UMLS:C3281001, + ORPHA:906 ; biolink:category biolink:Disease . OMIM:614732 a owl:Class ; @@ -483561,10 +500922,10 @@ OMIM:614732 a owl:Class ; PMID:15769992, PMID:21108398, PMID:22634751 ; - oboInOwl:hasDbXref UMLS:C1846009 ; oboInOwl:hasExactSynonym "IMAGE", "image syndrome", "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" ; + skos:exactMatch UMLS:C1846009 ; biolink:category biolink:Disease . OMIM:614841 a owl:Class ; @@ -483581,12 +500942,12 @@ OMIM:614841 a owl:Class ; PMID:5656436, PMID:6410916, PMID:8954047 ; - oboInOwl:hasDbXref UMLS:C1856897 ; oboInOwl:hasExactSynonym "HH12", "eunuchoidism, familial hypogonadotropic", "gonadotropin deficiency, familial idiopathic", "hypogonadotropic hypogonadism 12 with or without anosmia" ; rdfs:subClassOf OMIMPS:147950 ; + skos:exactMatch UMLS:C1856897 ; biolink:category biolink:Disease . OMIM:614881 a owl:Class ; @@ -483594,9 +500955,9 @@ OMIM:614881 a owl:Class ; IAO:0000142 PMID:22522442, PMID:24627108, PMID:25274842 ; - oboInOwl:hasDbXref UMLS:C3553989 ; oboInOwl:hasExactSynonym "DSMA5", "spinal muscular atrophy, distal, autosomal recessive, 5" ; + skos:exactMatch UMLS:C3553989 ; biolink:category biolink:Disease . OMIM:614921 a owl:Class ; @@ -483606,8 +500967,6 @@ OMIM:614921 a owl:Class ; PMID:24499211, PMID:28617415, PMID:33342467 ; - oboInOwl:hasDbXref UMLS:C2752015, - ORPHA:319646 ; oboInOwl:hasExactSynonym "CDG1T", "cdg it", "congenital disorder of glycosylation, iia it", @@ -483616,18 +500975,20 @@ OMIM:614921 a owl:Class ; "pgm1 deficiency", "phosphoglucomutase 1 deficiency" ; rdfs:subClassOf OMIMPS:212065 ; + skos:exactMatch UMLS:C2752015, + ORPHA:319646 ; biolink:category biolink:Disease . OMIM:615489 a owl:Class ; rdfs:label "macular degeneration, age-related, 14" ; IAO:0000142 PMID:16518403, PMID:23455636 ; - oboInOwl:hasDbXref UMLS:C3809653, - UMLS:C3809654 ; oboInOwl:hasExactSynonym "ARMD14", "macular degeneration, age-related, 14", "macular degeneration, age-related, reduced risk of" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C3809653, + UMLS:C3809654 ; biolink:category biolink:Disease . OMIM:615547 a owl:Class ; @@ -483647,15 +501008,15 @@ OMIM:615547 a owl:Class ; PMID:29599419, PMID:30323850, PMID:31397880 ; - oboInOwl:hasDbXref UMLS:C1859724, - UMLS:C3809877, - ORPHA:398069, - ORPHA:739 ; oboInOwl:hasExactSynonym "SHFYNG", "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies", "chitayat-hall syndrome", "prader-willi-like syndrome", "schaaf-yang syndrome" ; + skos:exactMatch UMLS:C1859724, + UMLS:C3809877, + ORPHA:398069, + ORPHA:739 ; biolink:category biolink:Disease . OMIM:615816 a owl:Class ; @@ -483667,13 +501028,13 @@ OMIM:615816 a owl:Class ; PMID:24931394, PMID:26482871, PMID:3500672 ; - oboInOwl:hasDbXref UMLS:C4014371, - ORPHA:443811 ; oboInOwl:hasExactSynonym "IMD23", "immunodeficiency 23", "immunodeficiency with hyper ige and cognitive impairment", "immunodeficiency-vasculitis-myoclonus syndrome" ; rdfs:subClassOf OMIMPS:300755 ; + skos:exactMatch UMLS:C4014371, + ORPHA:443811 ; biolink:category biolink:Disease . OMIM:616145 a owl:Class ; @@ -483694,7 +501055,6 @@ OMIM:616145 a owl:Class ; PMID:7888142, PMID:8484405, PMID:9777339 ; - oboInOwl:hasDbXref UMLS:C1844887 ; oboInOwl:hasExactSynonym "CATMANS", "catel-manzke syndrome", "hyperphalangy-clinodactyly of index finger with pierre robin syndrome", @@ -483702,6 +501062,7 @@ OMIM:616145 a owl:Class ; "micrognathia digital syndrome", "palatodigital syndrome, catel-manzke iia", "pierre robin syndrome with hyperphalangy and clinodactyly" ; + skos:exactMatch UMLS:C1844887 ; biolink:category biolink:Disease . OMIM:616651 a owl:Class ; @@ -483713,22 +501074,22 @@ OMIM:616651 a owl:Class ; PMID:21910238, PMID:21977988, PMID:26522830 ; - oboInOwl:hasDbXref UMLS:C1846059 ; oboInOwl:hasExactSynonym "RFMN", "roifman syndrome", "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency" ; + skos:exactMatch UMLS:C1846059 ; biolink:category biolink:Disease . OMIM:616843 a owl:Class ; rdfs:label "lymphatic malformation 6" ; IAO:0000142 PMID:26333996, PMID:3769974 ; - oboInOwl:hasDbXref UMLS:C4225184 ; oboInOwl:hasExactSynonym "LMPHM6", "generalized lymphatic dysplasia of fotiou", "lymphatic malformation 6", "lymphedema, hereditary, iii, formerly" ; rdfs:subClassOf OMIMPS:153100 ; + skos:exactMatch UMLS:C4225184 ; biolink:category biolink:Disease . OMIM:616866 a owl:Class ; @@ -483739,24 +501100,24 @@ OMIM:616866 a owl:Class ; PMID:12503655, PMID:1865475, PMID:26924529 ; - oboInOwl:hasDbXref UMLS:C1849101, - UMLS:C4225177, - ORPHA:486811 ; oboInOwl:hasExactSynonym "SMABF1", "spinal muscular atrophy with congenital bone fractures 1", "spinal muscular atrophy, iia i, with congenital bone fractures" ; rdfs:subClassOf OMIMPS:616866 ; + skos:exactMatch UMLS:C1849101, + UMLS:C4225177, + ORPHA:486811 ; biolink:category biolink:Disease . OMIM:617591 a owl:Class ; rdfs:label "proteasome-associated autoinflammatory syndrome 3" ; IAO:0000142 PMID:21953331, PMID:26524591 ; - oboInOwl:hasDbXref UMLS:C4747850 ; oboInOwl:hasExactSynonym "PRAAS3", "proteasome-associated autoinflammatory syndrome 3", "proteasome-associated autoinflammatory syndrome 3, digenic" ; rdfs:subClassOf OMIMPS:256040 ; + skos:exactMatch UMLS:C4747850 ; biolink:category biolink:Disease . OMIM:617752 a owl:Class ; @@ -483770,12 +501131,12 @@ OMIM:617752 a owl:Class ; PMID:3812552, PMID:7677138, PMID:9690003 ; - oboInOwl:hasDbXref UMLS:C2931130, - ORPHA:600731 ; oboInOwl:hasExactSynonym "CLABARS", "baraitser syndrome", "clark-baraitser syndrome", "mental retardation, autosomal dominant 49, formerly" ; + skos:exactMatch UMLS:C2931130, + ORPHA:600731 ; biolink:category biolink:Disease . OMIM:619182 a owl:Class ; @@ -483797,596 +501158,340 @@ OMIM:619182 a owl:Class ; "polyposis, gastric" ; biolink:category biolink:Disease . -OMIMPS:101800 a owl:Class ; - rdfs:label "Acrodysostosis" ; - biolink:category biolink:Disease . - -OMIMPS:104290 a owl:Class ; - rdfs:label "Alternating hemiplegia of childhood" ; - biolink:category biolink:Disease . - -OMIMPS:107480 a owl:Class ; - rdfs:label "Townes-Brocks syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:112240 a owl:Class ; - rdfs:label "Cole-Carpenter syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:113700 a owl:Class ; - rdfs:label "Breasts and/or nipples, aplasia or hypoplasia of" ; - biolink:category biolink:Disease . - -OMIMPS:115430 a owl:Class ; - rdfs:label "Carpal tunnel syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:118450 a owl:Class ; - rdfs:label "Alagille syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:119580 a owl:Class ; - rdfs:label "Blepharocheilodontic syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:121400 a owl:Class ; - rdfs:label "Cornea plana" ; - biolink:category biolink:Disease . - -OMIMPS:122100 a owl:Class ; - rdfs:label "Corneal dystrophy, Meesmann" ; - biolink:category biolink:Disease . - -OMIMPS:123000 a owl:Class ; - rdfs:label "Craniometaphyseal dysplasia" ; - biolink:category biolink:Disease . - -OMIMPS:127000 a owl:Class ; - rdfs:label "Kenny-Caffey syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:128200 a owl:Class ; - rdfs:label "Episodic kinesigenic dyskinesia" ; - biolink:category biolink:Disease . - -OMIMPS:136520 a owl:Class ; - rdfs:label "Foveal hypoplasia" ; - biolink:category biolink:Disease . - -OMIMPS:137950 a owl:Class ; - rdfs:label "Glomerulopathy with fibronectin deposits" ; - biolink:category biolink:Disease . - -OMIMPS:142700 a owl:Class ; - rdfs:label "Developmental dysplasia of the hip" ; - biolink:category biolink:Disease . - -OMIMPS:143880 a owl:Class ; - rdfs:label "Hypercalcemia, infantile" ; - biolink:category biolink:Disease . - -OMIMPS:145420 a owl:Class ; - rdfs:label "Teebi hypertelorism syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:146200 a owl:Class ; - rdfs:label "Hypoparathyroidism, familial" ; - biolink:category biolink:Disease . - -OMIMPS:147920 a owl:Class ; - rdfs:label "Kabuki syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:148210 a owl:Class ; - rdfs:label "Keratitis-ichthyosis-deafness syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:151623 a owl:Class ; - rdfs:label "Li-Fraumeni syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:153600 a owl:Class ; - rdfs:label "Macroglobulinemia, Waldenstrom" ; - biolink:category biolink:Disease . - -OMIMPS:156610 a owl:Class ; - rdfs:label "Skin creases, congenital symmetric circumferential" ; - biolink:category biolink:Disease . - -OMIMPS:158810 a owl:Class ; - rdfs:label "Bethlem myopathy" ; - biolink:category biolink:Disease . - -OMIMPS:160565 a owl:Class ; - rdfs:label "Myopathy, tubular aggregate" ; - biolink:category biolink:Disease . - -OMIMPS:160900 a owl:Class ; - rdfs:label "Myotonic dystrophy" ; - biolink:category biolink:Disease . - -OMIMPS:162091 a owl:Class ; - rdfs:label "Schwannomatosis" ; - biolink:category biolink:Disease . - -OMIMPS:164280 a owl:Class ; - rdfs:label "Feingold syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:166780 a owl:Class ; - rdfs:label "Otofaciocervical syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:176400 a owl:Class ; - rdfs:label "Precocious puberty, central" ; - biolink:category biolink:Disease . - -OMIMPS:178110 a owl:Class ; - rdfs:label "Contractures, pterygia, and variable skeletal fusions syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:182250 a owl:Class ; - rdfs:label "Singleton-Merten syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:184260 a owl:Class ; - rdfs:label "Odontochondrodysplasia" ; - biolink:category biolink:Disease . - -OMIMPS:184840 a owl:Class ; - rdfs:label "Otospondylomegaepiphyseal dysplasia" ; - biolink:category biolink:Disease . - -OMIMPS:185800 a owl:Class ; - rdfs:label "Proximal symphalangism" ; - biolink:category biolink:Disease . - -OMIMPS:190440 a owl:Class ; - rdfs:label "Trigonocephaly, isolated" ; - biolink:category biolink:Disease . - -OMIMPS:191100 a owl:Class ; - rdfs:label "Tuberous sclerosis" ; - biolink:category biolink:Disease . - -OMIMPS:193670 a owl:Class ; - rdfs:label "WHIM syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:193900 a owl:Class ; - rdfs:label "White sponge nevus" ; - biolink:category biolink:Disease . - -OMIMPS:201000 a owl:Class ; - rdfs:label "Carpenter syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:206100 a owl:Class ; - rdfs:label "Anemia, hypochromic microcytic, with iron overload" ; - biolink:category biolink:Disease . - -OMIMPS:206500 a owl:Class ; - rdfs:label "Anencephaly" ; - biolink:category biolink:Disease . - -OMIMPS:208000 a owl:Class ; - rdfs:label "Generalized arterial calcification of infancy" ; - biolink:category biolink:Disease . - -OMIMPS:208085 a owl:Class ; - rdfs:label "Arthrogryposis, renal dysfunction, and cholestasis" ; - biolink:category biolink:Disease . - -OMIMPS:208540 a owl:Class ; - rdfs:label "Renal-hepatic-pancreatic dysplasia" ; - biolink:category biolink:Disease . - -OMIMPS:210200 a owl:Class ; - rdfs:label "Methylcrotonylglycinuria" ; - biolink:category biolink:Disease . - -OMIMPS:210250 a owl:Class ; - rdfs:label "Sitosterolemia" ; - biolink:category biolink:Disease . - -OMIMPS:210900 a owl:Class ; - rdfs:label "Microcephaly, growth restriction and increased sister chromatid exchange" ; - biolink:category biolink:Disease . - -OMIMPS:211530 a owl:Class ; - rdfs:label "Brown-Vialetto-Van Laere syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:212720 a owl:Class ; - rdfs:label "Martsolf syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:220400 a owl:Class ; - rdfs:label "Jervell and Lange-Nielsen syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:221770 a owl:Class ; - rdfs:label "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" ; - biolink:category biolink:Disease . - -OMIMPS:221820 a owl:Class ; - rdfs:label "Leukoencephalopathy, hereditary diffuse, with spheroids" ; - biolink:category biolink:Disease . - -OMIMPS:221900 a owl:Class ; - rdfs:label "Persistent hyperplastic primary vitreous" ; - biolink:category biolink:Disease . - -OMIMPS:222470 a owl:Class ; - rdfs:label "Trichohepatoenteric syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:223360 a owl:Class ; - rdfs:label "Orthostatic hypotension" ; - biolink:category biolink:Disease . - -OMIMPS:228520 a owl:Class ; - rdfs:label "Fibrochondrogenesis" ; - biolink:category biolink:Disease . - -OMIMPS:228550 a owl:Class ; - rdfs:label "Infantile myofibromatosis" ; - biolink:category biolink:Disease . - -OMIMPS:229200 a owl:Class ; - rdfs:label "Brittle cornea syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:236680 a owl:Class ; - rdfs:label "Hydrolethalus syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:236730 a owl:Class ; - rdfs:label "Urofacial syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:241550 a owl:Class ; - rdfs:label "Hypoplastic left heart syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:243150 a owl:Class ; - rdfs:label "Gastrointestinal defect and immunodeficiency syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:243300 a owl:Class ; - rdfs:label "Cholestasis, benign recurrent intrahepatic" ; +OMIMPS:105250 a owl:Class ; + rdfs:label "Amyloidosis, primary localized cutaneous" ; biolink:category biolink:Disease . -OMIMPS:243310 a owl:Class ; - rdfs:label "Baraitser-Winter syndrome" ; +OMIMPS:106210 a owl:Class ; + rdfs:label "Aniridia" ; biolink:category biolink:Disease . -OMIMPS:245480 a owl:Class ; - rdfs:label "Specific granule deficiency" ; +OMIMPS:106300 a owl:Class ; + rdfs:label "Spondyloarthropathy, susceptibility to" ; biolink:category biolink:Disease . -OMIMPS:245590 a owl:Class ; - rdfs:label "Growth hormone insensitivity syndrome with immune dysregulation" ; +OMIMPS:108720 a owl:Class ; + rdfs:label "Atelosteogenesis" ; biolink:category biolink:Disease . -OMIMPS:248370 a owl:Class ; - rdfs:label "Mandibuloacral dysplasia with lipodystrophy" ; +OMIMPS:109730 a owl:Class ; + rdfs:label "Aortic valve disease" ; biolink:category biolink:Disease . -OMIMPS:251280 a owl:Class ; - rdfs:label "Diencephalic-mesencephalic junction dysplasia syndrome" ; +OMIMPS:113900 a owl:Class ; + rdfs:label "Progressive familial heart block" ; biolink:category biolink:Disease . -OMIMPS:251450 a owl:Class ; - rdfs:label "Desbuquois dysplasia" ; +OMIMPS:116860 a owl:Class ; + rdfs:label "Cerebral cavernous malformations" ; biolink:category biolink:Disease . -OMIMPS:252270 a owl:Class ; - rdfs:label "Monosomy 7 myelodysplasia and leukemia syndrome" ; +OMIMPS:121200 a owl:Class ; + rdfs:label "Seizures, benign familial neonatal" ; biolink:category biolink:Disease . -OMIMPS:254090 a owl:Class ; - rdfs:label "Ullrich congenital muscular dystrophy" ; +OMIMPS:125310 a owl:Class ; + rdfs:label "Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" ; biolink:category biolink:Disease . -OMIMPS:256520 a owl:Class ; - rdfs:label "Neu-Laxova syndrome" ; +OMIMPS:126800 a owl:Class ; + rdfs:label "Duane retraction syndrome" ; biolink:category biolink:Disease . -OMIMPS:256850 a owl:Class ; - rdfs:label "Giant axonal neuropathy" ; +OMIMPS:127500 a owl:Class ; + rdfs:label "Dyschromatosis universalis hereditaria" ; biolink:category biolink:Disease . -OMIMPS:258315 a owl:Class ; - rdfs:label "Omodysplasia" ; +OMIMPS:132100 a owl:Class ; + rdfs:label "Photoparoxysmal response" ; biolink:category biolink:Disease . -OMIMPS:260370 a owl:Class ; - rdfs:label "Pancreatic agenesis" ; +OMIMPS:135500 a owl:Class ; + rdfs:label "Zimmermann-Laband syndrome" ; biolink:category biolink:Disease . -OMIMPS:260400 a owl:Class ; - rdfs:label "Schwachman-Diamond syndrome" ; +OMIMPS:136760 a owl:Class ; + rdfs:label "Frontonasal dysplasia" ; biolink:category biolink:Disease . -OMIMPS:261100 a owl:Class ; - rdfs:label "Imerslund-Grasbeck syndrome" ; +OMIMPS:138800 a owl:Class ; + rdfs:label "Goiter, multinodular" ; biolink:category biolink:Disease . -OMIMPS:265450 a owl:Class ; - rdfs:label "Pulmonary venoocclusive disease" ; +OMIMPS:142690 a owl:Class ; + rdfs:label "Acne inversa" ; biolink:category biolink:Disease . -OMIMPS:268400 a owl:Class ; - rdfs:label "Rothmund-Thomson syndrome" ; +OMIMPS:145980 a owl:Class ; + rdfs:label "Hypocalciuric hypercalcemia" ; biolink:category biolink:Disease . -OMIMPS:269500 a owl:Class ; - rdfs:label "Sclerosteosis" ; +OMIMPS:151100 a owl:Class ; + rdfs:label "LEOPARD syndrome" ; biolink:category biolink:Disease . -OMIMPS:271930 a owl:Class ; - rdfs:label "Striatonigral degeneration" ; +OMIMPS:157700 a owl:Class ; + rdfs:label "Mitral valve prolapse, myxomatous" ; biolink:category biolink:Disease . -OMIMPS:273800 a owl:Class ; - rdfs:label "Glanzmann thrombasthenia" ; +OMIMPS:158600 a owl:Class ; + rdfs:label "Spinal muscular atrophy, lower extremity-predominant" ; biolink:category biolink:Disease . -OMIMPS:275210 a owl:Class ; - rdfs:label "Restrictive dermopathy" ; +OMIMPS:161950 a owl:Class ; + rdfs:label "IgA nephropathy" ; biolink:category biolink:Disease . -OMIMPS:277180 a owl:Class ; - rdfs:label "Vas deferens, congenital bilateral aplasia of" ; +OMIMPS:167320 a owl:Class ; + rdfs:label "Inclusion body myopathy/Paget disease/frontotemporal dementia" ; biolink:category biolink:Disease . -OMIMPS:277450 a owl:Class ; - rdfs:label "Vitamin K-dependent clotting factors, combined deficiency of" ; +OMIMPS:168500 a owl:Class ; + rdfs:label "Parietal foramina" ; biolink:category biolink:Disease . -OMIMPS:278300 a owl:Class ; - rdfs:label "Xanthinuria" ; +OMIMPS:169150 a owl:Class ; + rdfs:label "Macular dystrophy, patterned" ; biolink:category biolink:Disease . -OMIMPS:300009 a owl:Class ; - rdfs:label "Dent disease" ; +OMIMPS:175780 a owl:Class ; + rdfs:label "Brain small vessel disease" ; biolink:category biolink:Disease . -OMIMPS:300291 a owl:Class ; - rdfs:label "Ectodermal dysplasia and immune deficiency" ; +OMIMPS:176670 a owl:Class ; + rdfs:label "Progeria" ; biolink:category biolink:Disease . -OMIMPS:300818 a owl:Class ; - rdfs:label "Paroxysmal nocturnal hemoglobinuria" ; +OMIMPS:177000 a owl:Class ; + rdfs:label "Protoporphyria, erythropoietic" ; biolink:category biolink:Disease . -OMIMPS:305620 a owl:Class ; - rdfs:label "Frontometaphyseal dysplasia" ; +OMIMPS:177200 a owl:Class ; + rdfs:label "Liddle syndrome" ; biolink:category biolink:Disease . -OMIMPS:308205 a owl:Class ; - rdfs:label "IFAP syndrome" ; +OMIMPS:180500 a owl:Class ; + rdfs:label "Axenfeld-Rieger syndrome" ; biolink:category biolink:Disease . -OMIMPS:314580 a owl:Class ; - rdfs:label "Wieacker-Wolff syndrome" ; +OMIMPS:180849 a owl:Class ; + rdfs:label "Rubinstein-Taybi syndrome" ; biolink:category biolink:Disease . -OMIMPS:400043 a owl:Class ; - rdfs:label "Deafness, Y-linked" ; +OMIMPS:187950 a owl:Class ; + rdfs:label "Thrombocythemia" ; biolink:category biolink:Disease . -OMIMPS:600462 a owl:Class ; - rdfs:label "Myopathy, lactic acidosis, and sideroblastic anemia" ; +OMIMPS:188580 a owl:Class ; + rdfs:label "Thyrotoxic periodic paralysis" ; biolink:category biolink:Disease . -OMIMPS:600721 a owl:Class ; - rdfs:label "D-2-hydroxyglutaric aciduria" ; +OMIMPS:190350 a owl:Class ; + rdfs:label "Trichorhinophalangeal syndrome" ; biolink:category biolink:Disease . -OMIMPS:601198 a owl:Class ; - rdfs:label "Hypocalcemia" ; +OMIMPS:191830 a owl:Class ; + rdfs:label "Renal hypodysplasia/aplasia" ; biolink:category biolink:Disease . -OMIMPS:601228 a owl:Class ; - rdfs:label "Polyposis syndrome, hereditary mixed" ; +OMIMPS:200600 a owl:Class ; + rdfs:label "Achondrogenesis" ; biolink:category biolink:Disease . -OMIMPS:601390 a owl:Class ; - rdfs:label "Van Maldergem syndrome" ; +OMIMPS:209880 a owl:Class ; + rdfs:label "Central hypoventilation syndrome, congenital" ; biolink:category biolink:Disease . -OMIMPS:601559 a owl:Class ; - rdfs:label "Stuve-Wiedemann syndrome" ; +OMIMPS:211400 a owl:Class ; + rdfs:label "Bronchiectasis" ; biolink:category biolink:Disease . -OMIMPS:604391 a owl:Class ; - rdfs:label "Ataxia-telangiectasia-like disorder" ; +OMIMPS:214450 a owl:Class ; + rdfs:label "Griscelli syndrome" ; biolink:category biolink:Disease . -OMIMPS:604931 a owl:Class ; - rdfs:label "Cortisone reductase deficiency" ; +OMIMPS:215500 a owl:Class ; + rdfs:label "Choroidal dystrophy, central areolar" ; biolink:category biolink:Disease . -OMIMPS:605432 a owl:Class ; - rdfs:label "Radioulnar synostosis with amegakaryocytic thrombocytopenia" ; +OMIMPS:219000 a owl:Class ; + rdfs:label "Fraser syndrome" ; biolink:category biolink:Disease . -OMIMPS:606703 a owl:Class ; - rdfs:label "Dyskinesia with orofacial involvement" ; +OMIMPS:231050 a owl:Class ; + rdfs:label "Geleophysic dysplasia" ; biolink:category biolink:Disease . -OMIMPS:606777 a owl:Class ; - rdfs:label "Glut1 deficiency syndrome" ; +OMIMPS:235510 a owl:Class ; + rdfs:label "Hennekam lymphangiectasia-lymphedema syndrome" ; biolink:category biolink:Disease . -OMIMPS:607313 a owl:Class ; - rdfs:label "Gaze palsy, familial horizontal, with progressive scoliosis" ; +OMIMPS:243180 a owl:Class ; + rdfs:label "Visceral neuropathy, familial" ; biolink:category biolink:Disease . -OMIMPS:607326 a owl:Class ; - rdfs:label "Smith-McCort dysplasia" ; +OMIMPS:248600 a owl:Class ; + rdfs:label "Maple syrup urine disease" ; biolink:category biolink:Disease . -OMIMPS:607631 a owl:Class ; - rdfs:label "Epilepsy, juvenile absence" ; +OMIMPS:251270 a owl:Class ; + rdfs:label "Microcephaly and chorioretinopathy" ; biolink:category biolink:Disease . -OMIMPS:607721 a owl:Class ; - rdfs:label "Noonan syndrome-like disorder with loose anagen hair" ; +OMIMPS:251290 a owl:Class ; + rdfs:label "Pseudo-TORCH syndrome" ; biolink:category biolink:Disease . -OMIMPS:607748 a owl:Class ; - rdfs:label "Hypercholanemia, familial" ; +OMIMPS:252150 a owl:Class ; + rdfs:label "Molybdenum cofactor deficiency" ; biolink:category biolink:Disease . -OMIMPS:608354 a owl:Class ; - rdfs:label "Capillary malformation-arteriovenous malformation" ; +OMIMPS:254130 a owl:Class ; + rdfs:label "Miyoshi muscular dystrophy" ; biolink:category biolink:Disease . -OMIMPS:608805 a owl:Class ; - rdfs:label "Avascular necrosis of femoral head, primary" ; +OMIMPS:257300 a owl:Class ; + rdfs:label "Mosaic variegated aneuploidy syndrome" ; biolink:category biolink:Disease . -OMIMPS:609161 a owl:Class ; - rdfs:label "Striatal degeneration, autosomal dominant" ; +OMIMPS:257920 a owl:Class ; + rdfs:label "3MC syndrome" ; biolink:category biolink:Disease . -OMIMPS:609322 a owl:Class ; - rdfs:label "Rhabdoid tumor predisposition syndrome" ; +OMIMPS:259100 a owl:Class ; + rdfs:label "Hypertropic osteoarthropathy, primary" ; biolink:category biolink:Disease . -OMIMPS:610253 a owl:Class ; - rdfs:label "Kleefstra syndrome" ; +OMIMPS:259900 a owl:Class ; + rdfs:label "Hyperoxaluria, primary" ; biolink:category biolink:Disease . -OMIMPS:610448 a owl:Class ; - rdfs:label "Chilblain lupus" ; +OMIMPS:271640 a owl:Class ; + rdfs:label "Spondyloepimetaphyseal dysplasia with joint laxity" ; biolink:category biolink:Disease . -OMIMPS:610460 a owl:Class ; - rdfs:label "Thiopurines, poor metabolism of" ; +OMIMPS:272430 a owl:Class ; + rdfs:label "Cold-induced sweating syndrome" ; biolink:category biolink:Disease . -OMIMPS:612199 a owl:Class ; - rdfs:label "Cerebroretinal microangiopathy with calcfications and cysts" ; +OMIMPS:273750 a owl:Class ; + rdfs:label "Three M syndrome" ; biolink:category biolink:Disease . -OMIMPS:612286 a owl:Class ; - rdfs:label "Nephrolithiasis/osteoporosis, hypophosphatemic" ; +OMIMPS:276700 a owl:Class ; + rdfs:label "Tyrosinemia" ; biolink:category biolink:Disease . -OMIMPS:612900 a owl:Class ; - rdfs:label "Spastic quadriplegic cerebral palsy" ; +OMIMPS:300352 a owl:Class ; + rdfs:label "Cerebral creatine deficiency syndrome" ; biolink:category biolink:Disease . -OMIMPS:612975 a owl:Class ; - rdfs:label "Short sleep, familial natural" ; +OMIMPS:301050 a owl:Class ; + rdfs:label "Alport syndrome" ; biolink:category biolink:Disease . -OMIMPS:613280 a owl:Class ; - rdfs:label "Hypermanganesemia with dystonia" ; +OMIMPS:309801 a owl:Class ; + rdfs:label "Linear skin defects with multiple congenital anomalies" ; biolink:category biolink:Disease . -OMIMPS:613339 a owl:Class ; - rdfs:label "Hot water epilepsy" ; +OMIMPS:600630 a owl:Class ; + rdfs:label "UV-sensitive syndrome" ; biolink:category biolink:Disease . -OMIMPS:613573 a owl:Class ; - rdfs:label "Ectodermal dysplasia-syndactyly syndrome" ; +OMIMPS:601471 a owl:Class ; + rdfs:label "Facial paresis, hereditary congenital" ; biolink:category biolink:Disease . -OMIMPS:613658 a owl:Class ; - rdfs:label "Rajab interstitial lung disease with brain calcifications" ; +OMIMPS:602483 a owl:Class ; + rdfs:label "Auriculocondylar syndrome" ; biolink:category biolink:Disease . -OMIMPS:614231 a owl:Class ; - rdfs:label "Microcephaly, epilepsy, and diabetes syndrome" ; +OMIMPS:603387 a owl:Class ; + rdfs:label "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" ; biolink:category biolink:Disease . -OMIMPS:614328 a owl:Class ; - rdfs:label "Neonatal inflammatory skin and bowel disease" ; +OMIMPS:604004 a owl:Class ; + rdfs:label "Leukoencephalopathy, megalencephalic" ; biolink:category biolink:Disease . -OMIMPS:614388 a owl:Class ; - rdfs:label "Encephalopathy due to defective mitochondrial and peroxisomal fission" ; +OMIMPS:604348 a owl:Class ; + rdfs:label "Advanced sleep phase syndrome" ; biolink:category biolink:Disease . -OMIMPS:614937 a owl:Class ; - rdfs:label "Myoclonus, familial" ; +OMIMPS:605253 a owl:Class ; + rdfs:label "Neuropathy, congenital hypomelinating" ; biolink:category biolink:Disease . -OMIMPS:615273 a owl:Class ; - rdfs:label "Congenital disorder of deglycosylation" ; +OMIMPS:607095 a owl:Class ; + rdfs:label "Anauxetic dysplasia" ; biolink:category biolink:Disease . -OMIMPS:615895 a owl:Class ; - rdfs:label "Polyglucosan body myopathy" ; +OMIMPS:607250 a owl:Class ; + rdfs:label "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" ; biolink:category biolink:Disease . -OMIMPS:615952 a owl:Class ; - rdfs:label "Autoimmune disease, multisystem, infantile-onset" ; +OMIMPS:607411 a owl:Class ; + rdfs:label "Patent ductus arteriosus" ; biolink:category biolink:Disease . -OMIMPS:616263 a owl:Class ; - rdfs:label "Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" ; +OMIMPS:607634 a owl:Class ; + rdfs:label "Osteopetrosis, autosomal dominant" ; biolink:category biolink:Disease . -OMIMPS:616418 a owl:Class ; - rdfs:label "Hypomagnesemia, seizures, and mental retardation" ; +OMIMPS:608207 a owl:Class ; + rdfs:label "Kala-azar, susceptibility to" ; biolink:category biolink:Disease . -OMIMPS:616814 a owl:Class ; - rdfs:label "Preimplantation embryonic lethality" ; +OMIMPS:608567 a owl:Class ; + rdfs:label "Sick sinus syndrome" ; biolink:category biolink:Disease . -OMIMPS:616866 a owl:Class ; - rdfs:label "Spinal muscular atrophy with congenital bone fractures" ; +OMIMPS:609129 a owl:Class ; + rdfs:label "Auditory neuropathy" ; biolink:category biolink:Disease . -OMIMPS:617068 a owl:Class ; - rdfs:label "Portal hypertension, noncirrhotic" ; +OMIMPS:609620 a owl:Class ; + rdfs:label "Short QT syndrome" ; biolink:category biolink:Disease . -OMIMPS:617186 a owl:Class ; - rdfs:label "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" ; +OMIMPS:610542 a owl:Class ; + rdfs:label "Myasthenic syndrome, congenital, with tubular aggregates" ; biolink:category biolink:Disease . -OMIMPS:617236 a owl:Class ; - rdfs:label "Cone-rod dystrophy and hearing loss" ; +OMIMPS:610805 a owl:Class ; + rdfs:label "Congenital anomalies of kidney and urinary tract" ; biolink:category biolink:Disease . -OMIMPS:617877 a owl:Class ; - rdfs:label "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" ; +OMIMPS:613135 a owl:Class ; + rdfs:label "Parkinsonism-dystonia, infantile" ; biolink:category biolink:Disease . -OMIMPS:618005 a owl:Class ; - rdfs:label "Congenital disorder of glycosylation with defective fucosylation" ; +OMIMPS:614372 a owl:Class ; + rdfs:label "Lectin complement activation pathway defects" ; biolink:category biolink:Disease . -OMIMPS:618332 a owl:Class ; - rdfs:label "Menke-Hennekam syndrome" ; +OMIMPS:614429 a owl:Class ; + rdfs:label "Ventricular septal defect" ; biolink:category biolink:Disease . -OMIMPS:619115 a owl:Class ; - rdfs:label "Combined osteogenesis imperfecta and Ehlers-Danlos syndrome" ; +OMIMPS:614594 a owl:Class ; + rdfs:label "Olmsted syndrome" ; biolink:category biolink:Disease . -OMIMPS:619142 a owl:Class ; - rdfs:label "Cardioacrofacial dysplasia" ; +OMIMPS:615040 a owl:Class ; + rdfs:label "Familial episodic pain syndrome" ; biolink:category biolink:Disease . -OMIMPS:619611 a owl:Class ; - rdfs:label "Interstitial lung disease" ; +OMIMPS:615419 a owl:Class ; + rdfs:label "Hypotonia, infantile, with psychomotor retardation and characteristic facies" ; biolink:category biolink:Disease . -OMIMPS:619720 a owl:Class ; - rdfs:label "Bryant-Li-Bhoj neurodevelopmental syndrome" ; +OMIMPS:615438 a owl:Class ; + rdfs:label "Infantile liver failure syndrome" ; biolink:category biolink:Disease . -OMIMPS:619758 a owl:Class ; - rdfs:label "Tessadori-Van-Haaften neurodevelopmental syndrome" ; +OMIMPS:617660 a owl:Class ; + rdfs:label "Vertebral, cardiac, renal, and limb defects syndrome" ; biolink:category biolink:Disease . OMIM:102720 a owl:Class ; @@ -484418,7 +501523,6 @@ OMIM:102720 a owl:Class ; PMID:7974009, PMID:8096237, PMID:8101391 ; - oboInOwl:hasDbXref UMLS:C1414141 ; oboInOwl:hasExactSynonym "DPP4", "adenosine deaminase complexing protein 2", "dipeptidyl peptidase 4", @@ -484426,7 +501530,9 @@ OMIM:102720 a owl:Class ; "t-cell activation antigen cd26" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1803 ; - skos:exactMatch HGNC_symbol:DPP4 ; + skos:exactMatch UMLS:C1414141, + HGNC:3009, + HGNC_symbol:DPP4 ; biolink:category biolink:Gene . OMIM:103780 a owl:Class ; @@ -484486,11 +501592,11 @@ OMIM:103780 a owl:Class ; PMID:9603606, PMID:9603607, PMID:9880654 ; - oboInOwl:hasDbXref UMLS:C0001973 ; oboInOwl:hasExactSynonym "aerodigestive tract cancer, squamous cell, alcohol-related, protection against", "alcohol dependence", "alcohol dependence, protection against", "alcoholism" ; + skos:exactMatch UMLS:C0001973 ; biolink:category biolink:Disease . OMIM:105400 a owl:Class ; @@ -484611,8 +501717,6 @@ OMIM:105400 a owl:Class ; PMID:9753716, PMID:9817920, PMID:9818932 ; - oboInOwl:hasDbXref UMLS:C1862939, - ORPHA:803 ; oboInOwl:hasExactSynonym "ALS1", "amyotrophic lateral sclerosis 1", "amyotrophic lateral sclerosis 1, autosomal dominant", @@ -484620,6 +501724,8 @@ OMIM:105400 a owl:Class ; "amyotrophic lateral sclerosis 1, familial", "amyotrophic lateral sclerosis, sporadic" ; rdfs:subClassOf OMIMPS:105400 ; + skos:exactMatch UMLS:C1862939, + ORPHA:803 ; biolink:category biolink:Disease . OMIM:105650 a owl:Class ; @@ -484690,7 +501796,6 @@ OMIM:105650 a owl:Class ; PMID:9792865, PMID:986086, PMID:9988267 ; - oboInOwl:hasDbXref UMLS:C2676137 ; oboInOwl:hasExactSynonym "DBA1", "aase syndrome", "aase-smith syndrome 2", @@ -484703,6 +501808,7 @@ OMIM:105650 a owl:Class ; "erythrogenesis imperfecta", "red cell aplasia, pure, hereditary" ; rdfs:subClassOf OMIMPS:105650 ; + skos:exactMatch UMLS:C2676137 ; biolink:category biolink:Disease . OMIM:106165 a owl:Class ; @@ -484752,9 +501858,6 @@ OMIM:106165 a owl:Class ; PMID:9860997 ; RO:0002525 CHR:9606chr3q24 ; RO:0003303 OMIM:145500 ; - oboInOwl:hasDbXref UMLS:C0266313, - UMLS:C1439284, - UMLS:C3837652 ; oboInOwl:hasExactSynonym "AGTR1", "angiotensin 2 receptor, iia 1", "angiotensin 2 receptor, vascular iia 1", @@ -484763,7 +501866,11 @@ OMIM:106165 a owl:Class ; "at1r" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:185 ; - skos:exactMatch HGNC_symbol:AGTR1 ; + skos:exactMatch UMLS:C0266313, + UMLS:C1439284, + UMLS:C3837652, + HGNC:336, + HGNC_symbol:AGTR1 ; biolink:category biolink:Gene . OMIM:115700 a owl:Class ; @@ -484779,10 +501886,6 @@ OMIM:115700 a owl:Class ; PMID:8733140, PMID:9718335, PMID:9927684 ; - oboInOwl:hasDbXref UMLS:C1837023, - UMLS:C1861832, - UMLS:C3540850, - UMLS:C3888391 ; oboInOwl:hasExactSynonym "CTRCT4", "cataract 4, multiple types", "cataract 4, multiple types, with or without microcornea", @@ -484791,6 +501894,10 @@ OMIM:115700 a owl:Class ; "cataract, nonnuclear polymorphic congenital", "cataract, punctate, progressive juvenile-onset" ; rdfs:subClassOf OMIMPS:116200 ; + skos:exactMatch UMLS:C1837023, + UMLS:C1861832, + UMLS:C3540850, + UMLS:C3888391 ; biolink:category biolink:Disease . OMIM:121210 a owl:Class ; @@ -484810,11 +501917,11 @@ OMIM:121210 a owl:Class ; PMID:9384604 ; RO:0002525 CHR:9606chr8q13-q21 ; RO:0003303 OMIM:1 ; - oboInOwl:hasDbXref UMLS:C1852577 ; oboInOwl:hasExactSynonym "FEB1", "convulsions, familial febrile, 1", "febrile seizures, familial, 1" ; rdfs:subClassOf OMIMPS:121210 ; + skos:exactMatch UMLS:C1852577 ; biolink:category biolink:Disease . OMIM:130720 a owl:Class ; @@ -484829,11 +501936,11 @@ OMIM:130720 a owl:Class ; PMID:830893, PMID:8574426, PMID:9188658 ; - oboInOwl:hasDbXref UMLS:C1851710 ; oboInOwl:hasExactSynonym "LMNS", "lateral meningocele syndrome", "lehman syndrome", "lms" ; + skos:exactMatch UMLS:C1851710 ; biolink:category biolink:Disease . OMIM:134600 a owl:Class ; @@ -484855,9 +501962,6 @@ OMIM:134600 a owl:Class ; PMID:6796773, PMID:7032774, PMID:948541 ; - oboInOwl:hasDbXref UMLS:C0341703, - UMLS:C4551503, - ORPHA:3337 ; oboInOwl:hasExactSynonym "FRTS1", "adult fanconi syndrome", "fanconi renotubular syndrome", @@ -484866,6 +501970,9 @@ OMIM:134600 a owl:Class ; "luder-sheldon syndrome", "renal fanconi syndrome" ; rdfs:subClassOf OMIMPS:134600 ; + skos:exactMatch UMLS:C0341703, + UMLS:C4551503, + ORPHA:3337 ; biolink:category biolink:Disease . OMIM:135900 a owl:Class ; @@ -484911,9 +502018,6 @@ OMIM:135900 a owl:Class ; PMID:8849011, PMID:9286450, PMID:957016 ; - oboInOwl:hasDbXref UMLS:C0265338, - UMLS:C3281201, - ORPHA:1465 ; oboInOwl:hasExactSynonym "CSS1", "coffin-siris syndrome", "coffin-siris syndrome 1", @@ -484922,6 +502026,9 @@ OMIM:135900 a owl:Class ; "mental retardation, autosomal dominant 12" ; rdfs:subClassOf OMIMPS:135900, OMIMPS:156200 ; + skos:exactMatch UMLS:C0265338, + UMLS:C3281201, + ORPHA:1465 ; biolink:category biolink:Disease . OMIM:137800 a owl:Class ; @@ -485034,15 +502141,6 @@ OMIM:137800 a owl:Class ; PMID:9266974, PMID:9288095, PMID:9879993 ; - oboInOwl:hasDbXref UMLS:C1621958, - UMLS:C1842010, - UMLS:C2750850, - ORPHA:182067, - ORPHA:251627, - ORPHA:251630, - ORPHA:301, - ORPHA:360, - ORPHA:94 ; oboInOwl:hasExactSynonym "GLM1", "astrocytoma", "ependymoma", @@ -485052,6 +502150,15 @@ OMIM:137800 a owl:Class ; "oligodendroglioma", "subependymoma" ; rdfs:subClassOf OMIMPS:137800 ; + skos:exactMatch UMLS:C1621958, + UMLS:C1842010, + UMLS:C2750850, + ORPHA:182067, + ORPHA:251627, + ORPHA:251630, + ORPHA:301, + ORPHA:360, + ORPHA:94 ; biolink:category biolink:Disease . OMIM:140571 a owl:Class ; @@ -485085,7 +502192,6 @@ OMIM:140571 a owl:Class ; PMID:9108479, PMID:9602032, PMID:9845070 ; - oboInOwl:hasDbXref UMLS:C1825534 ; oboInOwl:hasExactSynonym "HSP90AA1", "heat-shock 90-kd protein 1, alpha, formerly", "heat-shock 90-kd protein 1, alpha-like 4", @@ -485097,7 +502203,9 @@ OMIM:140571 a owl:Class ; "lps-associated protein 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:3320 ; - skos:exactMatch HGNC_symbol:HSP90AA1 ; + skos:exactMatch UMLS:C1825534, + HGNC:5253, + HGNC_symbol:HSP90AA1 ; biolink:category biolink:Gene . OMIM:147060 a owl:Class ; @@ -485140,16 +502248,16 @@ OMIM:147060 a owl:Class ; PMID:865918, PMID:932900, PMID:9709729 ; - oboInOwl:hasDbXref UMLS:C2936739, - UMLS:C3887645, - UMLS:C4721531, - ORPHA:2314 ; oboInOwl:hasExactSynonym "HIES1", "hies, autosomal dominant", "hyper-ige recurrent infection syndrome 1, autosomal dominant", "hyper-ige syndrome, autosomal dominant", "job syndrome" ; rdfs:subClassOf OMIMPS:147060 ; + skos:exactMatch UMLS:C2936739, + UMLS:C3887645, + UMLS:C4721531, + ORPHA:2314 ; biolink:category biolink:Disease . OMIM:151410 a owl:Class ; @@ -485232,7 +502340,6 @@ OMIM:151410 a owl:Class ; PMID:9310467 ; RO:0002525 CHR:9606chr22q11.23 ; RO:0003303 OMIM:608232 ; - oboInOwl:hasDbXref UMLS:C0812385 ; oboInOwl:hasExactSynonym "BCR", "bcr activator of rhogef and gtpase", "bcr/abl fusion gene", @@ -485242,7 +502349,9 @@ OMIM:151410 a owl:Class ; "breakpoint cluster region" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:613 ; - skos:exactMatch HGNC_symbol:BCR ; + skos:exactMatch UMLS:C0812385, + HGNC:1014, + HGNC_symbol:BCR ; biolink:category biolink:Gene . OMIM:151660 a owl:Class ; @@ -485278,7 +502387,6 @@ OMIM:151660 a owl:Class ; PMID:9683602, PMID:9920078, PMID:9934982 ; - oboInOwl:hasDbXref UMLS:C1720860 ; oboInOwl:hasExactSynonym "FPLD2", "fpl2", "lipoatrophic diabetes", @@ -485287,6 +502395,7 @@ OMIM:151660 a owl:Class ; "lipodystrophy, familial, of limbs and lower trunk", "lipodystrophy, reverse partial" ; rdfs:subClassOf OMIMPS:151660 ; + skos:exactMatch UMLS:C1720860 ; biolink:category biolink:Disease . OMIM:151740 a owl:Class ; @@ -485299,10 +502408,6 @@ OMIM:151740 a owl:Class ; PMID:3013422, PMID:7851890, PMID:7961821 ; - oboInOwl:hasDbXref UMLS:C1412420, - UMLS:C1412422, - UMLS:C1412423, - UMLS:C1835372 ; oboInOwl:hasExactSynonym "ANXA2", "annexin 2", "annexin 2 pseudogene 1", @@ -485313,7 +502418,12 @@ OMIM:151740 a owl:Class ; "lipocortin 2" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:302 ; - skos:exactMatch HGNC_symbol:ANXA2 ; + skos:exactMatch UMLS:C1412420, + UMLS:C1412422, + UMLS:C1412423, + UMLS:C1835372, + HGNC:537, + HGNC_symbol:ANXA2 ; biolink:category biolink:Gene . OMIM:152950 a owl:Class ; @@ -485347,7 +502457,6 @@ OMIM:152950 a owl:Class ; PMID:8831130, PMID:8867659, PMID:9880217 ; - oboInOwl:hasDbXref UMLS:C1835265 ; oboInOwl:hasExactSynonym "MCLMR", "cdmmr syndrome", "lymphedema and retinal folds with microcephaly and microphthalmos", @@ -485356,6 +502465,7 @@ OMIM:152950 a owl:Class ; "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "microcephaly, lymphedema, chorioretinal dysplasia syndrome", "mlcrd syndrome" ; + skos:exactMatch UMLS:C1835265 ; biolink:category biolink:Disease . OMIM:153400 a owl:Class ; @@ -485391,12 +502501,12 @@ OMIM:153400 a owl:Class ; PMID:7656589, PMID:9106663, PMID:9409679 ; - oboInOwl:hasDbXref UMLS:C0265345, - UMLS:C2675066 ; oboInOwl:hasExactSynonym "LPHDST", "lymphedema with distichiasis", "lymphedema-distichiasis syndrome", "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" ; + skos:exactMatch UMLS:C0265345, + UMLS:C2675066 ; biolink:category biolink:Disease . OMIM:157900 a owl:Class ; @@ -485441,12 +502551,12 @@ OMIM:157900 a owl:Class ; PMID:8905202, PMID:9112001 ; RO:0002525 CHR:9606chr13q12.2-q13 ; - oboInOwl:hasDbXref UMLS:C0221060, - ORPHA:570 ; oboInOwl:hasExactSynonym "MBS", "mobius syndrome", "moebius sequence", "moebius syndrome" ; + skos:exactMatch UMLS:C0221060, + ORPHA:570 ; biolink:category biolink:Disease . OMIM:158350 a owl:Class ; @@ -485545,12 +502655,6 @@ OMIM:158350 a owl:Class ; PMID:9832031, PMID:9832032, PMID:9915974 ; - oboInOwl:hasDbXref UMLS:C0018553, - UMLS:C0391826, - UMLS:C1834711, - UMLS:C1834712, - UMLS:C1866398, - UMLS:C1959582 ; oboInOwl:hasExactSynonym "CWS1", "bannayan-riley-ruvalcaba syndrome", "bannayan-zonana syndrome", @@ -485569,6 +502673,12 @@ OMIM:158350 a owl:Class ; "riley-smith syndrome", "ruvalcaba-myhre-smith syndrome" ; rdfs:subClassOf OMIMPS:158350 ; + skos:exactMatch UMLS:C0018553, + UMLS:C0391826, + UMLS:C1834711, + UMLS:C1834712, + UMLS:C1866398, + UMLS:C1959582 ; biolink:category biolink:Disease . OMIM:160120 a owl:Class ; @@ -485593,9 +502703,6 @@ OMIM:160120 a owl:Class ; PMID:7942848, PMID:889293, PMID:9390841 ; - oboInOwl:hasDbXref UMLS:C1719788, - ORPHA:37612, - ORPHA:972 ; oboInOwl:hasExactSynonym "EA1", "ataxia, episodic, with myokymia", "continuous muscle fiber activity, hereditary", @@ -485607,6 +502714,9 @@ OMIM:160120 a owl:Class ; "myokymia with periodic ataxia", "paroxysmal ataxia with neuromyotonia, hereditary" ; rdfs:subClassOf OMIMPS:160120 ; + skos:exactMatch UMLS:C1719788, + ORPHA:37612, + ORPHA:972 ; biolink:category biolink:Disease . OMIM:162000 a owl:Class ; @@ -485643,7 +502753,6 @@ OMIM:162000 a owl:Class ; PMID:7477627, PMID:9266353, PMID:9686952 ; - oboInOwl:hasDbXref UMLS:C4551496 ; oboInOwl:hasExactSynonym "ADTKD1", "familial juvenile hyperuricemic nephropathy", "glomerulocystic kidney disease with hyperuricemia and isosthenuria", @@ -485653,6 +502762,7 @@ OMIM:162000 a owl:Class ; "medullary cystic kidney disease 2, autosomal dominant", "tubulointerstitial kidney disease, autosomal dominant, 1" ; rdfs:subClassOf OMIMPS:162000 ; + skos:exactMatch UMLS:C4551496 ; biolink:category biolink:Disease . OMIM:163200 a owl:Class ; @@ -485682,8 +502792,6 @@ OMIM:163200 a owl:Class ; PMID:7108885, PMID:7625436, PMID:9007330 ; - oboInOwl:hasDbXref UMLS:C4552097, - ORPHA:2612 ; oboInOwl:hasExactSynonym "SFM", "epidermal nevus syndrome, formerly", "jadassohn nevus phakomatosis", @@ -485693,6 +502801,8 @@ OMIM:163200 a owl:Class ; "schimmelpenning-feuerstein-mims syndrome", "sebaceous nevus syndrome, linear", "sfm syndrome" ; + skos:exactMatch UMLS:C4552097, + ORPHA:2612 ; biolink:category biolink:Disease . OMIM:164400 a owl:Class ; @@ -485803,7 +502913,6 @@ OMIM:164400 a owl:Class ; PMID:9778246, PMID:9779665, PMID:9860298 ; - oboInOwl:hasDbXref UMLS:C0752120 ; oboInOwl:hasExactSynonym "SCA1", "cerebelloparenchymal disorder 1", "menzel iia opca", @@ -485815,6 +502924,7 @@ OMIM:164400 a owl:Class ; "spinocerebellar ataxia 1", "spinocerebellar atrophy 1" ; rdfs:subClassOf OMIMPS:164400 ; + skos:exactMatch UMLS:C0752120 ; biolink:category biolink:Disease . OMIM:174900 a owl:Class ; @@ -485858,9 +502968,6 @@ OMIM:174900 a owl:Class ; PMID:9662392, PMID:9811934, PMID:9915974 ; - oboInOwl:hasDbXref UMLS:C0345893, - UMLS:C1832940, - UMLS:C1868081 ; oboInOwl:hasExactSynonym "JPS", "juvenile intestinal polyposis", "juvenile polyposis coli", @@ -485868,6 +502975,9 @@ OMIM:174900 a owl:Class ; "juvenile polyposis syndrome", "polyposis, familial, of entire gastrointestinal tract", "polyposis, juvenile intestinal" ; + skos:exactMatch UMLS:C0345893, + UMLS:C1832940, + UMLS:C1868081 ; biolink:category biolink:Disease . OMIM:178500 a owl:Class ; @@ -485910,9 +503020,6 @@ OMIM:178500 a owl:Class ; PMID:7191366, PMID:8569361, PMID:8790603 ; - oboInOwl:hasDbXref UMLS:C1800706, - UMLS:C4721508, - UMLS:C4721509 ; oboInOwl:hasExactSynonym "ILD2", "fibrocystic pulmonary dysplasia", "fibrosing alveolitis, cryptogenic", @@ -485922,6 +503029,9 @@ OMIM:178500 a owl:Class ; "interstitial pneumonitis, usual", "pulmonary fibrosis, idiopathic" ; rdfs:subClassOf OMIMPS:619611 ; + skos:exactMatch UMLS:C1800706, + UMLS:C4721508, + UMLS:C4721509 ; biolink:category biolink:Disease . OMIM:181350 a owl:Class ; @@ -485951,7 +503061,6 @@ OMIM:181350 a owl:Class ; PMID:8619549, PMID:9106535, PMID:9949197 ; - oboInOwl:hasDbXref UMLS:C0410190 ; oboInOwl:hasExactSynonym "EDMD2", "cardiomyopathy, dilated, with quadriceps myopathy", "emd2", @@ -485963,6 +503072,7 @@ OMIM:181350 a owl:Class ; "muscular dystrophy, proximal, iia 1b, formerly", "scapuloilioperoneal atrophy with cardiopathy" ; rdfs:subClassOf OMIMPS:310300 ; + skos:exactMatch UMLS:C0410190 ; biolink:category biolink:Disease . OMIM:187500 a owl:Class ; @@ -485991,9 +503101,9 @@ OMIM:187500 a owl:Class ; PMID:8923932, PMID:9132487, PMID:9188669 ; - oboInOwl:hasDbXref UMLS:C0039685 ; oboInOwl:hasExactSynonym "TOF", "tetralogy of fallot" ; + skos:exactMatch UMLS:C0039685 ; biolink:category biolink:Disease . OMIM:191100 a owl:Class ; @@ -486102,13 +503212,13 @@ OMIM:191100 a owl:Class ; PMID:9863590, PMID:9881533, PMID:9924605 ; - oboInOwl:hasDbXref UMLS:C0041341, - UMLS:C1854465 ; oboInOwl:hasExactSynonym "TSC1", "tuberose sclerosis", "tuberous sclerosis 1", "tuberous sclerosis complex" ; rdfs:subClassOf OMIMPS:191100 ; + skos:exactMatch UMLS:C0041341, + UMLS:C1854465 ; biolink:category biolink:Disease . OMIM:192600 a owl:Class ; @@ -486200,8 +503310,6 @@ OMIM:192600 a owl:Class ; PMID:9544842, PMID:9780340, PMID:988769 ; - oboInOwl:hasDbXref UMLS:C0205700, - UMLS:C3495498 ; oboInOwl:hasExactSynonym "CMH1", "asymmetric septal hypertrophy", "cardiomyopathy, familial hypertrophic, 1", @@ -486209,6 +503317,8 @@ OMIM:192600 a owl:Class ; "hypertrophic subaortic stenosis, idiopathic", "ventricular hypertrophy, hereditary" ; rdfs:subClassOf OMIMPS:192600 ; + skos:exactMatch UMLS:C0205700, + UMLS:C3495498 ; biolink:category biolink:Disease . OMIM:194070 a owl:Class ; @@ -486308,12 +503418,12 @@ OMIM:194070 a owl:Class ; PMID:9425891, PMID:9537236, PMID:9781906 ; - oboInOwl:hasDbXref UMLS:C0027708, - ORPHA:654 ; oboInOwl:hasExactSynonym "WT1", "nephroblastoma", "wilms tumor 1" ; rdfs:subClassOf OMIMPS:194070 ; + skos:exactMatch UMLS:C0027708, + ORPHA:654 ; biolink:category biolink:Disease . OMIM:194380 a owl:Class ; @@ -486357,8 +503467,6 @@ OMIM:194380 a owl:Class ; PMID:91785, PMID:9718354, PMID:9827909 ; - oboInOwl:hasDbXref UMLS:C0272051, - UMLS:C4551512 ; oboInOwl:hasExactSynonym "DHS1", "dehydrated hereditary stomatocytosis", "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema", @@ -486366,6 +503474,8 @@ OMIM:194380 a owl:Class ; "pseudohyperkalemia edinburgh", "pseudohyperkalemia, familial, 1, due to red cell leak", "xerocytosis, hereditary" ; + skos:exactMatch UMLS:C0272051, + UMLS:C4551512 ; biolink:category biolink:Disease . OMIM:209900 a owl:Class ; @@ -486425,10 +503535,10 @@ OMIM:209900 a owl:Class ; PMID:9056566, PMID:9126487, PMID:9888993 ; - oboInOwl:hasDbXref UMLS:C2936862 ; oboInOwl:hasExactSynonym "BBS1", "bardet-biedl syndrome 1" ; rdfs:subClassOf OMIMPS:209900 ; + skos:exactMatch UMLS:C2936862 ; biolink:category biolink:Disease . OMIM:209920 a owl:Class ; @@ -486457,12 +503567,6 @@ OMIM:209920 a owl:Class ; PMID:8070816, PMID:8642248, PMID:92382 ; - oboInOwl:hasDbXref UMLS:C1859534, - UMLS:C1859535, - UMLS:C1859536, - UMLS:C1859537, - UMLS:C1859538, - UMLS:C2931418 ; oboInOwl:hasExactSynonym "bare lymphocyte syndrome", "bare lymphocyte syndrome, iia 2", "bare lymphocyte syndrome, iia ii, complementation group B", @@ -486473,6 +503577,12 @@ OMIM:209920 a owl:Class ; "bls, iia 2", "scid, hla class ii-negative", "severe combined immunodeficiency, hla class ii-negative" ; + skos:exactMatch UMLS:C1859534, + UMLS:C1859535, + UMLS:C1859536, + UMLS:C1859537, + UMLS:C1859538, + UMLS:C2931418 ; biolink:category biolink:Disease . OMIM:210720 a owl:Class ; @@ -486503,11 +503613,11 @@ OMIM:210720 a owl:Class ; PMID:8533804, PMID:9800906, PMID:9800908 ; - oboInOwl:hasDbXref UMLS:C0432246 ; oboInOwl:hasExactSynonym "MOPD2", "microcephalic osteodysplastic primordial dwarfism, iia 2", "mopd 2", "osteodysplastic primordial dwarfism, iia 2" ; + skos:exactMatch UMLS:C0432246 ; biolink:category biolink:Disease . OMIM:211900 a owl:Class ; @@ -486554,10 +503664,6 @@ OMIM:211900 a owl:Class ; PMID:7426918, PMID:8338191, PMID:9113957 ; - oboInOwl:hasDbXref UMLS:C1876187, - UMLS:C4692564, - ORPHA:306661, - ORPHA:53715 ; oboInOwl:hasExactSynonym "HFTC1", "calcinosis, tumoral, with hyperphosphatemia", "cortical hyperostosis with hyperphosphatemia", @@ -486569,6 +503675,10 @@ OMIM:211900 a owl:Class ; "tumoral calcinosis, hyperphosphatemic, familial", "tumoral calcinosis, hyperphosphatemic, familial, 1", "tumoral calcinosis, primary hyperphosphatemic" ; + skos:exactMatch UMLS:C1876187, + UMLS:C4692564, + ORPHA:306661, + ORPHA:53715 ; biolink:category biolink:Disease . OMIM:213600 a owl:Class ; @@ -486611,8 +503721,6 @@ OMIM:213600 a owl:Class ; PMID:8474495, PMID:886353, PMID:9065541 ; - oboInOwl:hasDbXref UMLS:C4551624, - ORPHA:1980 ; oboInOwl:hasExactSynonym "IBGC1", "basal ganglia calcification, idiopathic, 1", "basal ganglia calcification, idiopathic, 2, formerly", @@ -486624,6 +503732,8 @@ OMIM:213600 a owl:Class ; "striopallidodentate calcinosis, autosomal dominant, adult-onset", "striopallidodentate calcinosis, bilateral" ; rdfs:subClassOf OMIMPS:213600 ; + skos:exactMatch UMLS:C4551624, + ORPHA:1980 ; biolink:category biolink:Disease . OMIM:215700 a owl:Class ; @@ -486672,12 +503782,12 @@ OMIM:215700 a owl:Class ; PMID:852520, PMID:891260, PMID:934749 ; - oboInOwl:hasDbXref UMLS:C4721769 ; oboInOwl:hasExactSynonym "argininosuccinate synthetase deficiency", "ass deficiency", "citrullinemia, iia 1", "citrullinemia, classic", "citrullinuria" ; + skos:exactMatch UMLS:C4721769 ; biolink:category biolink:Disease . OMIM:220290 a owl:Class ; @@ -486729,14 +503839,14 @@ OMIM:220290 a owl:Class ; PMID:8789457, PMID:9139825, PMID:9195157 ; - oboInOwl:hasDbXref UMLS:C2673759, - UMLS:C2673760, - UMLS:C2673761 ; oboInOwl:hasExactSynonym "DFNB1A", "deafness, autosomal recessive 1a", "deafness, digenic, gjb2/gjb3", "deafness, digenic, gjb2/gjb6" ; rdfs:subClassOf OMIMPS:220290 ; + skos:exactMatch UMLS:C2673759, + UMLS:C2673760, + UMLS:C2673761 ; biolink:category biolink:Disease . OMIM:227650 a owl:Class ; @@ -486871,9 +503981,6 @@ OMIM:227650 a owl:Class ; PMID:9371798, PMID:9382107, PMID:939547 ; - oboInOwl:hasDbXref UMLS:C1856796, - UMLS:C1856797, - UMLS:C3469521 ; oboInOwl:hasExactSynonym "FANCA", "estren-dameshek variant of fanconi anemia", "estren-dameshek variant of fanconi pancytopenia", @@ -486881,6 +503988,9 @@ OMIM:227650 a owl:Class ; "fanconi anemia, complementation group a", "fanconi anemia, estren-dameshek variant" ; rdfs:subClassOf OMIMPS:227650 ; + skos:exactMatch UMLS:C1856796, + UMLS:C1856797, + UMLS:C3469521 ; biolink:category biolink:Disease . OMIM:231680 a owl:Class ; @@ -486921,13 +504031,6 @@ OMIM:231680 a owl:Class ; PMID:7912128, PMID:8739959, PMID:8771170 ; - oboInOwl:hasDbXref UMLS:C0268596, - UMLS:C1856401, - UMLS:C1856403, - UMLS:C1856405, - UMLS:C3278154, - UMLS:C3278155, - UMLS:C3278156 ; oboInOwl:hasExactSynonym "MADD", "etfa deficiency", "etfb deficiency", @@ -486940,6 +504043,13 @@ OMIM:231680 a owl:Class ; "glutaric acidemia 2c", "glutaric aciduria 2", "multiple acyl-coa dehydrogenase deficiency" ; + skos:exactMatch UMLS:C0268596, + UMLS:C1856401, + UMLS:C1856403, + UMLS:C1856405, + UMLS:C3278154, + UMLS:C3278155, + UMLS:C3278156 ; biolink:category biolink:Disease . OMIM:242600 a owl:Class ; @@ -486954,8 +504064,8 @@ OMIM:242600 a owl:Class ; PMID:6029472, PMID:7314117, PMID:955941 ; - oboInOwl:hasDbXref UMLS:C0268654 ; oboInOwl:hasExactSynonym "iminoglycinuria" ; + skos:exactMatch UMLS:C0268654 ; biolink:category biolink:Disease . OMIM:243310 a owl:Class ; @@ -486982,9 +504092,6 @@ OMIM:243310 a owl:Class ; PMID:3351890, PMID:457136, PMID:7545868 ; - oboInOwl:hasDbXref UMLS:C1853623, - UMLS:C1855722, - ORPHA:2995 ; oboInOwl:hasExactSynonym "BRWS1", "baraitser-winter syndrome 1", "cerebrofrontofacial syndrome", @@ -486995,6 +504102,9 @@ OMIM:243310 a owl:Class ; "mental retardation with epilepsy and characteristic facies", "pachygyria, mental retardation, epilepsy, and characteristic facies" ; rdfs:subClassOf OMIMPS:243310 ; + skos:exactMatch UMLS:C1853623, + UMLS:C1855722, + ORPHA:2995 ; biolink:category biolink:Disease . OMIM:245570 a owl:Class ; @@ -487015,11 +504125,6 @@ OMIM:245570 a owl:Class ; PMID:2779747, PMID:7574460, PMID:7680862 ; - oboInOwl:hasDbXref UMLS:C0282512, - UMLS:C1832814, - UMLS:C2363129, - UMLS:C3806402, - UMLS:C3806403 ; oboInOwl:hasExactSynonym "FESD", "aphasia, acquired, with epilepsy", "continuous spike and waves during slow-wave sleep syndrome", @@ -487027,6 +504132,11 @@ OMIM:245570 a owl:Class ; "epilepsy, focal, with speech disorder and with or without mental retardation", "landau-kleffner syndrome", "rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant" ; + skos:exactMatch UMLS:C0282512, + UMLS:C1832814, + UMLS:C2363129, + UMLS:C3806402, + UMLS:C3806403 ; biolink:category biolink:Disease . OMIM:246700 a owl:Class ; @@ -487043,12 +504153,12 @@ OMIM:246700 a owl:Class ; PMID:3792776, PMID:7601203, PMID:8492252 ; - oboInOwl:hasDbXref UMLS:C0795956 ; oboInOwl:hasExactSynonym "CMRD", "anderson disease", "chylomicron retention disease", "hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein 1n intestinal cells", "lipid transport defect of intestine" ; + skos:exactMatch UMLS:C0795956 ; biolink:category biolink:Disease . OMIM:248600 a owl:Class ; @@ -487125,14 +504235,6 @@ OMIM:248600 a owl:Class ; PMID:8968745, PMID:9266407, PMID:9621512 ; - oboInOwl:hasDbXref UMLS:C0024776, - UMLS:C0268568, - UMLS:C0268569, - UMLS:C0751285, - UMLS:C1621920, - UMLS:C1855369, - UMLS:C1855371, - UMLS:C2930990 ; oboInOwl:hasExactSynonym "MSUD", "bckd deficiency", "branched-chain alpha-keto acid dehydrogenase deficiency", @@ -487147,6 +504249,14 @@ OMIM:248600 a owl:Class ; "maple syrup urine disease, intermittent", "maple syrup urine disease, thiamine-responsive" ; rdfs:subClassOf OMIMPS:248600 ; + skos:exactMatch UMLS:C0024776, + UMLS:C0268568, + UMLS:C0268569, + UMLS:C0751285, + UMLS:C1621920, + UMLS:C1855369, + UMLS:C1855371, + UMLS:C2930990 ; biolink:category biolink:Disease . OMIM:248800 a owl:Class ; @@ -487182,10 +504292,10 @@ OMIM:248800 a owl:Class ; PMID:8907346, PMID:9449477, PMID:9638664 ; - oboInOwl:hasDbXref UMLS:C0024814, - ORPHA:559 ; oboInOwl:hasExactSynonym "MSS", "marinesco-sjogren syndrome" ; + skos:exactMatch UMLS:C0024814, + ORPHA:559 ; biolink:category biolink:Disease . OMIM:251200 a owl:Class ; @@ -487219,14 +504329,14 @@ OMIM:251200 a owl:Class ; PMID:7693575, PMID:8585559, PMID:9683597 ; - oboInOwl:hasDbXref UMLS:C1855081, - ORPHA:2512 ; oboInOwl:hasExactSynonym "MCPH1", "microcephaly 1, primary, autosomal recessive", "pcc syndrome", "premature chromosome condensation syndrome", "premature chromosome condensation with microcephaly and mental retardation" ; rdfs:subClassOf OMIMPS:251200 ; + skos:exactMatch UMLS:C1855081, + ORPHA:2512 ; biolink:category biolink:Disease . OMIM:254090 a owl:Class ; @@ -487260,7 +504370,6 @@ OMIM:254090 a owl:Class ; PMID:30055862, PMID:3239582, PMID:604494 ; - oboInOwl:hasDbXref UMLS:C0410179 ; oboInOwl:hasExactSynonym "UCMD1", "muscular dystrophy, limb-girdle, autosomal recessive 22", "muscular dystrophy, scleroatonic", @@ -487270,6 +504379,7 @@ OMIM:254090 a owl:Class ; "ullrich scleroatonic muscular dystrophy" ; rdfs:subClassOf OMIMPS:253600, OMIMPS:254090 ; + skos:exactMatch UMLS:C0410179 ; biolink:category biolink:Disease . OMIM:256730 a owl:Class ; @@ -487309,9 +504419,6 @@ OMIM:256730 a owl:Class ; PMID:9425237, PMID:9535296, PMID:9664077 ; - oboInOwl:hasDbXref UMLS:C0268281, - UMLS:C1850451, - UMLS:C2931673 ; oboInOwl:hasExactSynonym "CLN1", "ceroid lipofuscinosis, neuronal, 1", "ceroid lipofuscinosis, neuronal, 1, variable age at onset", @@ -487319,6 +504426,9 @@ OMIM:256730 a owl:Class ; "santavuori disease", "santavuori-haltia disease" ; rdfs:subClassOf OMIMPS:256730 ; + skos:exactMatch UMLS:C0268281, + UMLS:C1850451, + UMLS:C2931673 ; biolink:category biolink:Disease . OMIM:258450 a owl:Class ; @@ -487338,12 +504448,12 @@ OMIM:258450 a owl:Class ; PMID:5652994, PMID:5797350, PMID:8628476 ; - oboInOwl:hasDbXref UMLS:C4225153, - ORPHA:254886 ; oboInOwl:hasExactSynonym "PEOB1", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1", "progressive external ophthalmoplegia, autosomal recessive 1" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C4225153, + ORPHA:254886 ; biolink:category biolink:Disease . OMIM:264350 a owl:Class ; @@ -487368,10 +504478,10 @@ OMIM:264350 a owl:Class ; PMID:8589714, PMID:8640238, PMID:8824886 ; - oboInOwl:hasDbXref UMLS:C1449843 ; oboInOwl:hasExactSynonym "PHA1B", "pha i, autosomal recessive", "pseudohypoaldosteronism, iia i, autosomal recessive" ; + skos:exactMatch UMLS:C1449843 ; biolink:category biolink:Disease . OMIM:267750 a owl:Class ; @@ -487398,13 +504508,13 @@ OMIM:267750 a owl:Class ; PMID:8484411, PMID:8776601, PMID:9677068 ; - oboInOwl:hasDbXref UMLS:C1849409, - UMLS:C4551775, - ORPHA:1571 ; oboInOwl:hasExactSynonym "KNO1", "kno", "knobloch syndrome 1", "retinal detachment and occipital encephalocele" ; + skos:exactMatch UMLS:C1849409, + UMLS:C4551775, + ORPHA:1571 ; biolink:category biolink:Disease . OMIM:272800 a owl:Class ; @@ -487501,13 +504611,6 @@ OMIM:272800 a owl:Class ; PMID:936207, PMID:941901, PMID:9556661 ; - oboInOwl:hasDbXref UMLS:C0039373, - UMLS:C1848913, - UMLS:C1848914, - UMLS:C1848915, - UMLS:C1848916, - UMLS:C1848917, - UMLS:C2749283 ; oboInOwl:hasExactSynonym "B variant gm2-gangliosidosis", "TSD", "gm2-gangliosidosis, iia 1", @@ -487520,6 +504623,13 @@ OMIM:272800 a owl:Class ; "tay-sachs disease, juvenile", "tay-sachs disease, pseudo-ab variant", "tay-sachs disease, variant b1" ; + skos:exactMatch UMLS:C0039373, + UMLS:C1848913, + UMLS:C1848914, + UMLS:C1848915, + UMLS:C1848916, + UMLS:C1848917, + UMLS:C2749283 ; biolink:category biolink:Disease . OMIM:275355 a owl:Class ; @@ -487537,7 +504647,9 @@ OMIM:275355 a owl:Class ; PMID:8327510, PMID:8782464, PMID:9721851 ; - oboInOwl:hasDbXref UMLS:C1168401, + oboInOwl:hasExactSynonym "HNSCC", + "squamous cell carcinoma, head and neck" ; + skos:exactMatch UMLS:C1168401, ORPHA:494547, ORPHA:494550, ORPHA:500464, @@ -487545,8 +504657,6 @@ OMIM:275355 a owl:Class ; ORPHA:500481, ORPHA:502363, ORPHA:502366 ; - oboInOwl:hasExactSynonym "HNSCC", - "squamous cell carcinoma, head and neck" ; biolink:category biolink:Disease . OMIM:300166 a owl:Class ; @@ -487573,9 +504683,6 @@ OMIM:300166 a owl:Class ; PMID:8723122, PMID:8723559, PMID:9220201 ; - oboInOwl:hasDbXref UMLS:C1846265, - ORPHA:2712, - ORPHA:568 ; oboInOwl:hasExactSynonym "MCOPS2", "anop2, formerly", "maa2, formerly", @@ -487584,6 +504691,9 @@ OMIM:300166 a owl:Class ; "oculofaciocardiodental syndrome", "ofcd syndrome" ; rdfs:subClassOf OMIMPS:309800 ; + skos:exactMatch UMLS:C1846265, + ORPHA:2712, + ORPHA:568 ; biolink:category biolink:Disease . OMIM:300354 a owl:Class ; @@ -487603,7 +504713,6 @@ OMIM:300354 a owl:Class ; PMID:25385192, PMID:8135271, PMID:8826446 ; - oboInOwl:hasDbXref UMLS:C1845861 ; oboInOwl:hasExactSynonym "MRXSC", "cabezas syndrome", "intellectual developmental disorder, x-linked, syndromic, cabezas iia", @@ -487612,6 +504721,7 @@ OMIM:300354 a owl:Class ; "mental retardation, x-linked, with short stature", "mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C1845861 ; biolink:category biolink:Disease . OMIM:300373 a owl:Class ; @@ -487641,11 +504751,11 @@ OMIM:300373 a owl:Class ; PMID:9556297, PMID:9842992, PMID:9893078 ; - oboInOwl:hasDbXref UMLS:C0432268, - ORPHA:2780 ; oboInOwl:hasExactSynonym "OSCS", "hyperostosis generalisata with striations", "osteopathia striata with cranial sclerosis" ; + skos:exactMatch UMLS:C0432268, + ORPHA:2780 ; biolink:category biolink:Disease . OMIM:301845 a owl:Class ; @@ -487665,11 +504775,11 @@ OMIM:301845 a owl:Class ; PMID:8782050, PMID:879818 ; RO:0002525 CHR:9606chrXq24-q27 ; - oboInOwl:hasDbXref UMLS:C0346104 ; oboInOwl:hasExactSynonym "BZX", "bazex syndrome", "bazex-dupre-christol syndrome", "follicular atrophoderma and basal cell carcinomas" ; + skos:exactMatch UMLS:C0346104 ; biolink:category biolink:Disease . OMIM:304700 a owl:Class ; @@ -487688,7 +504798,6 @@ OMIM:304700 a owl:Class ; PMID:7643352, PMID:8841189, PMID:9539345 ; - oboInOwl:hasDbXref UMLS:C0796074 ; oboInOwl:hasExactSynonym "MTS", "deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency", "deafness-dystonia-optic atrophy syndrome", @@ -487696,6 +504805,7 @@ OMIM:304700 a owl:Class ; "jensen syndrome", "mohr-tranebjaerg syndrome", "opticoacoustic nerve atrophy with dementia" ; + skos:exactMatch UMLS:C0796074 ; biolink:category biolink:Disease . OMIM:309590 a owl:Class ; @@ -487716,11 +504826,6 @@ OMIM:309590 a owl:Class ; PMID:8533845, PMID:8826449, PMID:9863601 ; - oboInOwl:hasDbXref UMLS:C0796003, - UMLS:C0796272, - UMLS:C2678046, - ORPHA:528084, - ORPHA:85328 ; oboInOwl:hasExactSynonym "MRXST", "brooks-wisniewski-brown syndrome", "intellectual developmental disorder, x-linked, syndromic, turner iia", @@ -487730,6 +504835,11 @@ OMIM:309590 a owl:Class ; "mental retardation, x-linked, syndromic, turner iia", "mental retardation, x-linked, with growth retardation, deafness, and microgenitalism" ; rdfs:subClassOf OMIMPS:309510 ; + skos:exactMatch UMLS:C0796003, + UMLS:C0796272, + UMLS:C2678046, + ORPHA:528084, + ORPHA:85328 ; biolink:category biolink:Disease . OMIM:312170 a owl:Class ; @@ -487785,11 +504895,6 @@ OMIM:312170 a owl:Class ; PMID:9266390, PMID:9686362, PMID:9727848 ; - oboInOwl:hasDbXref UMLS:C0034345, - UMLS:C0751597, - UMLS:C1839413, - ORPHA:765, - ORPHA:79243 ; oboInOwl:hasExactSynonym "PDHAD", "ataxia with lactic acidosis 1", "ataxia, intermittent, with abnormal pyruvate metabolism", @@ -487800,6 +504905,11 @@ OMIM:312170 a owl:Class ; "pyruvate dehydrogenase complex deficiency", "pyruvate dehydrogenase e1-alpha deficiency" ; rdfs:subClassOf OMIMPS:312170 ; + skos:exactMatch UMLS:C0034345, + UMLS:C0751597, + UMLS:C1839413, + ORPHA:765, + ORPHA:79243 ; biolink:category biolink:Disease . OMIM:600655 a owl:Class ; @@ -487809,7 +504919,6 @@ OMIM:600655 a owl:Class ; PMID:1886777, PMID:8250921, PMID:8743958 ; - oboInOwl:hasDbXref UMLS:C1414289 ; oboInOwl:hasExactSynonym "EEF1B2", "eef1b-alpha", "elongation factor 1, beta", @@ -487820,7 +504929,9 @@ OMIM:600655 a owl:Class ; "eukaryotic translation elongation factor 1, beta-4, pseudogene" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:1933 ; - skos:exactMatch HGNC_symbol:EEF1B2 ; + skos:exactMatch UMLS:C1414289, + HGNC:3208, + HGNC_symbol:EEF1B2 ; biolink:category biolink:Gene . OMIM:601367 a owl:Class ; @@ -487857,10 +504968,10 @@ OMIM:601367 a owl:Class ; PMID:9227708, PMID:9241273, PMID:9368582 ; - oboInOwl:hasDbXref UMLS:C0948008 ; oboInOwl:hasExactSynonym "cerebral infarction", "cerebrovascular accident", "stroke, ischemic" ; + skos:exactMatch UMLS:C0948008 ; biolink:category biolink:Disease . OMIM:601457 a owl:Class ; @@ -487894,9 +505005,9 @@ OMIM:601457 a owl:Class ; PMID:8810255, PMID:8943163, PMID:9143683 ; - oboInOwl:hasDbXref UMLS:C1832322 ; oboInOwl:hasExactSynonym "scid, t cell-negative, B cell-negative, nk cell-positive", "severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive" ; + skos:exactMatch UMLS:C1832322 ; biolink:category biolink:Disease . OMIM:601634 a owl:Class ; @@ -487923,12 +505034,12 @@ OMIM:601634 a owl:Class ; PMID:8986792, PMID:9084933, PMID:9611072 ; - oboInOwl:hasDbXref UMLS:C1866558, - UMLS:C1866559 ; oboInOwl:hasExactSynonym "NTDFS", "neural tube defects, folate-sensitive", "ntd, folate-sensitive", "spina bifida, folate-sensitive" ; + skos:exactMatch UMLS:C1866558, + UMLS:C1866559 ; biolink:category biolink:Disease . OMIM:601680 a owl:Class ; @@ -487949,8 +505060,6 @@ OMIM:601680 a owl:Class ; PMID:8923935, PMID:9012416, PMID:9508073 ; - oboInOwl:hasDbXref UMLS:C1834523, - UMLS:C5193014 ; oboInOwl:hasExactSynonym "DA2B1", "arthrogryposis multiplex congenita, distal, iia 2b", "arthrogryposis multiplex congenita, distal, iia ii, with craniofacial abnormalities", @@ -487958,6 +505067,8 @@ OMIM:601680 a owl:Class ; "freeman-sheldon syndrome variant", "sheldon-hall syndrome" ; rdfs:subClassOf OMIMPS:108120 ; + skos:exactMatch UMLS:C1834523, + UMLS:C5193014 ; biolink:category biolink:Disease . OMIM:604213 a owl:Class ; @@ -487973,11 +505084,11 @@ OMIM:604213 a owl:Class ; PMID:21348867, PMID:22578326, PMID:9024571 ; - oboInOwl:hasDbXref UMLS:C1858695 ; oboInOwl:hasExactSynonym "CMCS", "chudley-mccullough syndrome", "deafness, autosomal recessive 82, formerly", "deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" ; + skos:exactMatch UMLS:C1858695 ; biolink:category biolink:Disease . OMIM:604571 a owl:Class ; @@ -487987,10 +505098,10 @@ OMIM:604571 a owl:Class ; PMID:12149238, PMID:3891604, PMID:7517574 ; - oboInOwl:hasDbXref UMLS:C1858266 ; oboInOwl:hasExactSynonym "bare lymphocyte syndrome, iia 1", "bls, iia 1", "hla class 1 deficiency" ; + skos:exactMatch UMLS:C1858266 ; biolink:category biolink:Disease . OMIM:605027 a owl:Class ; @@ -488005,16 +505116,15 @@ OMIM:605027 a owl:Class ; PMID:21390126, PMID:21796119, PMID:22722845 ; - oboInOwl:hasDbXref UMLS:C4721532 ; oboInOwl:hasExactSynonym "lymphoma, non-hodgkin, familial", "non-hodgkin lymphoma" ; + skos:exactMatch UMLS:C4721532 ; biolink:category biolink:Disease . OMIM:605097 a owl:Class ; rdfs:label "SLC45A3" ; IAO:0000142 PMID:10613842, PMID:11245466 ; - oboInOwl:hasDbXref UMLS:C1822765 ; oboInOwl:hasExactSynonym "SLC45A3", "ipca2", "ipca6", @@ -488026,7 +505136,9 @@ OMIM:605097 a owl:Class ; "solute carrier family 45, member 3" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:85414 ; - skos:exactMatch HGNC_symbol:SLC45A3 ; + skos:exactMatch UMLS:C1822765, + HGNC:8642, + HGNC_symbol:SLC45A3 ; biolink:category biolink:Gene . OMIM:605899 a owl:Class ; @@ -488067,12 +505179,12 @@ OMIM:605899 a owl:Class ; PMID:7885541, PMID:80128, PMID:8585564 ; - oboInOwl:hasDbXref UMLS:C0268560, - UMLS:C0751748 ; oboInOwl:hasExactSynonym "GCE", "glycine encephalopathy", "hyperglycinemia, nonketotic", "hyperglycinemia, transient neonatal" ; + skos:exactMatch UMLS:C0268560, + UMLS:C0751748 ; biolink:category biolink:Disease . OMIM:613652 a owl:Class ; @@ -488094,21 +505206,21 @@ OMIM:613652 a owl:Class ; PMID:8840296, PMID:9225968, PMID:9590289 ; - oboInOwl:hasDbXref UMLS:C3150902 ; oboInOwl:hasExactSynonym "C1QD", "c1q deficiency" ; + skos:exactMatch UMLS:C3150902 ; biolink:category biolink:Disease . OMIM:614279 a owl:Class ; rdfs:label "46,xy sex reversal 8" ; IAO:0000142 PMID:21802064, PMID:4352099 ; - oboInOwl:hasDbXref UMLS:C1839840, - ORPHA:443087 ; oboInOwl:hasExactSynonym "46,xy sex reversal 8", "SRXY8", "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" ; rdfs:subClassOf OMIMPS:400044 ; + skos:exactMatch UMLS:C1839840, + ORPHA:443087 ; biolink:category biolink:Disease . OMIM:614519 a owl:Class ; @@ -488116,346 +505228,198 @@ OMIM:614519 a owl:Class ; IAO:0000142 PMID:15277638, PMID:22209247, PMID:22522439 ; - oboInOwl:hasDbXref UMLS:C3281105 ; oboInOwl:hasExactSynonym "ICH", "hemorrhage, intracerebral, susceptibility to", "stroke, hemorrhagic, susceptibility to" ; + skos:exactMatch UMLS:C3281105 ; biolink:category biolink:Disease . -OMIMPS:105250 a owl:Class ; - rdfs:label "Amyloidosis, primary localized cutaneous" ; - biolink:category biolink:Disease . - -OMIMPS:106210 a owl:Class ; - rdfs:label "Aniridia" ; - biolink:category biolink:Disease . - -OMIMPS:106300 a owl:Class ; - rdfs:label "Spondyloarthropathy, susceptibility to" ; - biolink:category biolink:Disease . - -OMIMPS:108720 a owl:Class ; - rdfs:label "Atelosteogenesis" ; - biolink:category biolink:Disease . - -OMIMPS:109730 a owl:Class ; - rdfs:label "Aortic valve disease" ; - biolink:category biolink:Disease . - -OMIMPS:113900 a owl:Class ; - rdfs:label "Progressive familial heart block" ; - biolink:category biolink:Disease . - -OMIMPS:116860 a owl:Class ; - rdfs:label "Cerebral cavernous malformations" ; - biolink:category biolink:Disease . - -OMIMPS:121200 a owl:Class ; - rdfs:label "Seizures, benign familial neonatal" ; - biolink:category biolink:Disease . - -OMIMPS:125310 a owl:Class ; - rdfs:label "Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" ; - biolink:category biolink:Disease . - -OMIMPS:126800 a owl:Class ; - rdfs:label "Duane retraction syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:127500 a owl:Class ; - rdfs:label "Dyschromatosis universalis hereditaria" ; - biolink:category biolink:Disease . - -OMIMPS:132100 a owl:Class ; - rdfs:label "Photoparoxysmal response" ; - biolink:category biolink:Disease . - -OMIMPS:135500 a owl:Class ; - rdfs:label "Zimmermann-Laband syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:136760 a owl:Class ; - rdfs:label "Frontonasal dysplasia" ; - biolink:category biolink:Disease . - -OMIMPS:138800 a owl:Class ; - rdfs:label "Goiter, multinodular" ; - biolink:category biolink:Disease . - -OMIMPS:142690 a owl:Class ; - rdfs:label "Acne inversa" ; - biolink:category biolink:Disease . - -OMIMPS:145980 a owl:Class ; - rdfs:label "Hypocalciuric hypercalcemia" ; - biolink:category biolink:Disease . - -OMIMPS:151100 a owl:Class ; - rdfs:label "LEOPARD syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:157700 a owl:Class ; - rdfs:label "Mitral valve prolapse, myxomatous" ; - biolink:category biolink:Disease . - -OMIMPS:158600 a owl:Class ; - rdfs:label "Spinal muscular atrophy, lower extremity-predominant" ; - biolink:category biolink:Disease . - -OMIMPS:161950 a owl:Class ; - rdfs:label "IgA nephropathy" ; - biolink:category biolink:Disease . - -OMIMPS:167320 a owl:Class ; - rdfs:label "Inclusion body myopathy/Paget disease/frontotemporal dementia" ; - biolink:category biolink:Disease . - -OMIMPS:168500 a owl:Class ; - rdfs:label "Parietal foramina" ; - biolink:category biolink:Disease . - -OMIMPS:169150 a owl:Class ; - rdfs:label "Macular dystrophy, patterned" ; - biolink:category biolink:Disease . - -OMIMPS:175780 a owl:Class ; - rdfs:label "Brain small vessel disease" ; - biolink:category biolink:Disease . - -OMIMPS:176670 a owl:Class ; - rdfs:label "Progeria" ; - biolink:category biolink:Disease . - -OMIMPS:177000 a owl:Class ; - rdfs:label "Protoporphyria, erythropoietic" ; - biolink:category biolink:Disease . - -OMIMPS:177200 a owl:Class ; - rdfs:label "Liddle syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:180500 a owl:Class ; - rdfs:label "Axenfeld-Rieger syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:180849 a owl:Class ; - rdfs:label "Rubinstein-Taybi syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:187950 a owl:Class ; - rdfs:label "Thrombocythemia" ; - biolink:category biolink:Disease . - -OMIMPS:188580 a owl:Class ; - rdfs:label "Thyrotoxic periodic paralysis" ; - biolink:category biolink:Disease . - -OMIMPS:190350 a owl:Class ; - rdfs:label "Trichorhinophalangeal syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:191830 a owl:Class ; - rdfs:label "Renal hypodysplasia/aplasia" ; - biolink:category biolink:Disease . - -OMIMPS:200600 a owl:Class ; - rdfs:label "Achondrogenesis" ; - biolink:category biolink:Disease . - -OMIMPS:209880 a owl:Class ; - rdfs:label "Central hypoventilation syndrome, congenital" ; - biolink:category biolink:Disease . - -OMIMPS:211400 a owl:Class ; - rdfs:label "Bronchiectasis" ; - biolink:category biolink:Disease . - -OMIMPS:214450 a owl:Class ; - rdfs:label "Griscelli syndrome" ; +OMIMPS:100070 a owl:Class ; + rdfs:label "Aortic aneurysm, familial abdominal" ; biolink:category biolink:Disease . -OMIMPS:215500 a owl:Class ; - rdfs:label "Choroidal dystrophy, central areolar" ; +OMIMPS:103900 a owl:Class ; + rdfs:label "Hyperaldosteronism" ; biolink:category biolink:Disease . -OMIMPS:219000 a owl:Class ; - rdfs:label "Fraser syndrome" ; +OMIMPS:115150 a owl:Class ; + rdfs:label "Cardiofaciocutaneous syndrome" ; biolink:category biolink:Disease . -OMIMPS:231050 a owl:Class ; - rdfs:label "Geleophysic dysplasia" ; +OMIMPS:118100 a owl:Class ; + rdfs:label "Klippel-Feil syndrome" ; biolink:category biolink:Disease . -OMIMPS:235510 a owl:Class ; - rdfs:label "Hennekam lymphangiectasia-lymphedema syndrome" ; +OMIMPS:120100 a owl:Class ; + rdfs:label "Familial cold autoinflammatory syndrome" ; biolink:category biolink:Disease . -OMIMPS:243180 a owl:Class ; - rdfs:label "Visceral neuropathy, familial" ; +OMIMPS:122000 a owl:Class ; + rdfs:label "Corneal dystrophy, posterior polymorphous" ; biolink:category biolink:Disease . -OMIMPS:248600 a owl:Class ; - rdfs:label "Maple syrup urine disease" ; +OMIMPS:131100 a owl:Class ; + rdfs:label "Multiple endocrine neoplasia" ; biolink:category biolink:Disease . -OMIMPS:251270 a owl:Class ; - rdfs:label "Microcephaly and chorioretinopathy" ; +OMIMPS:136500 a owl:Class ; + rdfs:label "Focal facial dermal dysplasia" ; biolink:category biolink:Disease . -OMIMPS:251290 a owl:Class ; - rdfs:label "Pseudo-TORCH syndrome" ; +OMIMPS:141500 a owl:Class ; + rdfs:label "Migraine, familial hemiplegic" ; biolink:category biolink:Disease . -OMIMPS:252150 a owl:Class ; - rdfs:label "Molybdenum cofactor deficiency" ; +OMIMPS:143890 a owl:Class ; + rdfs:label "Hypercholesterolemia, familial" ; biolink:category biolink:Disease . -OMIMPS:254130 a owl:Class ; - rdfs:label "Miyoshi muscular dystrophy" ; +OMIMPS:149400 a owl:Class ; + rdfs:label "Hyperekplexia" ; biolink:category biolink:Disease . -OMIMPS:257300 a owl:Class ; - rdfs:label "Mosaic variegated aneuploidy syndrome" ; +OMIMPS:154500 a owl:Class ; + rdfs:label "Treacher Collins syndrome" ; biolink:category biolink:Disease . -OMIMPS:257920 a owl:Class ; - rdfs:label "3MC syndrome" ; +OMIMPS:157600 a owl:Class ; + rdfs:label "Mirror movements" ; biolink:category biolink:Disease . -OMIMPS:259100 a owl:Class ; - rdfs:label "Hypertropic osteoarthropathy, primary" ; +OMIMPS:158900 a owl:Class ; + rdfs:label "Facioscapulohumeral muscular dystrophy" ; biolink:category biolink:Disease . -OMIMPS:259900 a owl:Class ; - rdfs:label "Hyperoxaluria, primary" ; +OMIMPS:164310 a owl:Class ; + rdfs:label "Oculopharyngodistal myopathy" ; biolink:category biolink:Disease . -OMIMPS:271640 a owl:Class ; - rdfs:label "Spondyloepimetaphyseal dysplasia with joint laxity" ; +OMIMPS:174050 a owl:Class ; + rdfs:label "Polycystic liver disease" ; biolink:category biolink:Disease . -OMIMPS:272430 a owl:Class ; - rdfs:label "Cold-induced sweating syndrome" ; +OMIMPS:174400 a owl:Class ; + rdfs:label "Polydactyly, preaxial" ; biolink:category biolink:Disease . -OMIMPS:273750 a owl:Class ; - rdfs:label "Three M syndrome" ; +OMIMPS:175100 a owl:Class ; + rdfs:label "Familial adenomatous polyposis" ; biolink:category biolink:Disease . -OMIMPS:276700 a owl:Class ; - rdfs:label "Tyrosinemia" ; +OMIMPS:179800 a owl:Class ; + rdfs:label "Distal renal tubular acidosis" ; biolink:category biolink:Disease . -OMIMPS:300352 a owl:Class ; - rdfs:label "Cerebral creatine deficiency syndrome" ; +OMIMPS:184450 a owl:Class ; + rdfs:label "Stuttering, familial persistent" ; biolink:category biolink:Disease . -OMIMPS:301050 a owl:Class ; - rdfs:label "Alport syndrome" ; +OMIMPS:186500 a owl:Class ; + rdfs:label "Multiple synostoses syndrome" ; biolink:category biolink:Disease . -OMIMPS:309801 a owl:Class ; - rdfs:label "Linear skin defects with multiple congenital anomalies" ; +OMIMPS:203650 a owl:Class ; + rdfs:label "Alopecia-intellectual disability syndrome" ; biolink:category biolink:Disease . -OMIMPS:600630 a owl:Class ; - rdfs:label "UV-sensitive syndrome" ; +OMIMPS:208150 a owl:Class ; + rdfs:label "Fetal akinesia deformation sequence" ; biolink:category biolink:Disease . -OMIMPS:601471 a owl:Class ; - rdfs:label "Facial paresis, hereditary congenital" ; +OMIMPS:214150 a owl:Class ; + rdfs:label "Cerebrooculofacioskeletal syndrome" ; biolink:category biolink:Disease . -OMIMPS:602483 a owl:Class ; - rdfs:label "Auriculocondylar syndrome" ; +OMIMPS:215100 a owl:Class ; + rdfs:label "Rhizomelic chondrodysplasia punctata" ; biolink:category biolink:Disease . -OMIMPS:603387 a owl:Class ; - rdfs:label "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" ; +OMIMPS:218330 a owl:Class ; + rdfs:label "Cranioectodermal dysplasia" ; biolink:category biolink:Disease . -OMIMPS:604004 a owl:Class ; - rdfs:label "Leukoencephalopathy, megalencephalic" ; +OMIMPS:220210 a owl:Class ; + rdfs:label "Ritscher-Schinzel syndrome" ; biolink:category biolink:Disease . -OMIMPS:604348 a owl:Class ; - rdfs:label "Advanced sleep phase syndrome" ; +OMIMPS:224050 a owl:Class ; + rdfs:label "Cerebellar ataxia, mental retardation, and dysequilibrium" ; biolink:category biolink:Disease . -OMIMPS:605253 a owl:Class ; - rdfs:label "Neuropathy, congenital hypomelinating" ; +OMIMPS:230400 a owl:Class ; + rdfs:label "Galactosemia" ; biolink:category biolink:Disease . -OMIMPS:607095 a owl:Class ; - rdfs:label "Anauxetic dysplasia" ; +OMIMPS:231090 a owl:Class ; + rdfs:label "Hydatidiform mole, recurrent" ; biolink:category biolink:Disease . -OMIMPS:607250 a owl:Class ; - rdfs:label "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" ; +OMIMPS:236600 a owl:Class ; + rdfs:label "Hydrocephalus, congenital" ; biolink:category biolink:Disease . -OMIMPS:607411 a owl:Class ; - rdfs:label "Patent ductus arteriosus" ; +OMIMPS:242860 a owl:Class ; + rdfs:label "Immunodeficiency-centromeric instability-facial anomalies" ; biolink:category biolink:Disease . -OMIMPS:607634 a owl:Class ; - rdfs:label "Osteopetrosis, autosomal dominant" ; +OMIMPS:252011 a owl:Class ; + rdfs:label "Mitochondrial complex II deficiency, nuclear type" ; biolink:category biolink:Disease . -OMIMPS:608207 a owl:Class ; - rdfs:label "Kala-azar, susceptibility to" ; +OMIMPS:276300 a owl:Class ; + rdfs:label "Mismatch repair cancer syndrome" ; biolink:category biolink:Disease . -OMIMPS:608567 a owl:Class ; - rdfs:label "Sick sinus syndrome" ; +OMIMPS:277600 a owl:Class ; + rdfs:label "Weill-Marchesani syndrome" ; biolink:category biolink:Disease . -OMIMPS:609129 a owl:Class ; - rdfs:label "Auditory neuropathy" ; +OMIMPS:300633 a owl:Class ; + rdfs:label "Hypospadias" ; biolink:category biolink:Disease . -OMIMPS:609620 a owl:Class ; - rdfs:label "Short QT syndrome" ; +OMIMPS:600118 a owl:Class ; + rdfs:label "Warburg micro syndrome" ; biolink:category biolink:Disease . -OMIMPS:610542 a owl:Class ; - rdfs:label "Myasthenic syndrome, congenital, with tubular aggregates" ; +OMIMPS:600165 a owl:Class ; + rdfs:label "Nanophthalmos" ; biolink:category biolink:Disease . -OMIMPS:610805 a owl:Class ; - rdfs:label "Congenital anomalies of kidney and urinary tract" ; +OMIMPS:600803 a owl:Class ; + rdfs:label "Gallbladder disease" ; biolink:category biolink:Disease . -OMIMPS:613135 a owl:Class ; - rdfs:label "Parkinsonism-dystonia, infantile" ; +OMIMPS:604364 a owl:Class ; + rdfs:label "Epilepsy, familial focal, with variable foci" ; biolink:category biolink:Disease . -OMIMPS:614372 a owl:Class ; - rdfs:label "Lectin complement activation pathway defects" ; +OMIMPS:604370 a owl:Class ; + rdfs:label "Breast-ovarian cancer, familial, susceptibility to" ; biolink:category biolink:Disease . -OMIMPS:614429 a owl:Class ; - rdfs:label "Ventricular septal defect" ; +OMIMPS:605552 a owl:Class ; + rdfs:label "Abdominal obesity-metabolic syndrome" ; biolink:category biolink:Disease . -OMIMPS:614594 a owl:Class ; - rdfs:label "Olmsted syndrome" ; +OMIMPS:606176 a owl:Class ; + rdfs:label "Diabetes mellitus, permanent neonatal" ; biolink:category biolink:Disease . -OMIMPS:615040 a owl:Class ; - rdfs:label "Familial episodic pain syndrome" ; +OMIMPS:606711 a owl:Class ; + rdfs:label "Specific language impairment" ; biolink:category biolink:Disease . -OMIMPS:615419 a owl:Class ; - rdfs:label "Hypotonia, infantile, with psychomotor retardation and characteristic facies" ; +OMIMPS:608594 a owl:Class ; + rdfs:label "Lipodystrophy, congenital generalized" ; biolink:category biolink:Disease . -OMIMPS:615438 a owl:Class ; - rdfs:label "Infantile liver failure syndrome" ; +OMIMPS:610489 a owl:Class ; + rdfs:label "Pigmented nodular adrenocortical disease, primary" ; biolink:category biolink:Disease . -OMIMPS:617660 a owl:Class ; - rdfs:label "Vertebral, cardiac, renal, and limb defects syndrome" ; +OMIMPS:614080 a owl:Class ; + rdfs:label "Multiple congenital anomalies-hypotonia-seizures syndrome" ; biolink:category biolink:Disease . OMIM:136880 a owl:Class ; @@ -488468,10 +505432,10 @@ OMIM:136880 a owl:Class ; PMID:14718298, PMID:15790919, PMID:8554077 ; - oboInOwl:hasDbXref UMLS:C0311338, - UMLS:C1405854 ; oboInOwl:hasExactSynonym "fundus albipunctatus", "retinitis punctata albescens" ; + skos:exactMatch UMLS:C0311338, + UMLS:C1405854 ; biolink:category biolink:Disease . OMIM:147050 a owl:Class ; @@ -488522,10 +505486,6 @@ OMIM:147050 a owl:Class ; PMID:8094113, PMID:8097806, PMID:8105198 ; - oboInOwl:hasDbXref UMLS:C0020523, - UMLS:C0236175, - UMLS:C1840253, - UMLS:C1840254 ; oboInOwl:hasExactSynonym "IGER", "atopic hypersensitivity", "atopy, susceptibility to", @@ -488534,6 +505494,10 @@ OMIM:147050 a owl:Class ; "ige, elevated level of", "ige, level of", "immunoglobulin e, basic level of, 1n serum" ; + skos:exactMatch UMLS:C0020523, + UMLS:C0236175, + UMLS:C1840253, + UMLS:C1840254 ; biolink:category biolink:Disease . OMIM:158000 a owl:Class ; @@ -488559,9 +505523,9 @@ OMIM:158000 a owl:Class ; PMID:9241275, PMID:9349326, PMID:9665406 ; - oboInOwl:hasDbXref UMLS:C0546966 ; oboInOwl:hasExactSynonym "MNLIX", "monilethrix" ; + skos:exactMatch UMLS:C0546966 ; biolink:category biolink:Disease . OMIM:162662 a owl:Class ; @@ -488577,7 +505541,6 @@ OMIM:162662 a owl:Class ; PMID:8873083 ; RO:0002525 CHR:9606chr19q13.33 ; RO:0003303 OMIM:613100 ; - oboInOwl:hasDbXref UMLS:C1417863 ; oboInOwl:hasExactSynonym "NTF4", "neurotrophic factor 4", "neurotrophic factor 5", @@ -488586,7 +505549,9 @@ OMIM:162662 a owl:Class ; "neurotrophin 5" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:4909 ; - skos:exactMatch HGNC_symbol:NTF4 ; + skos:exactMatch UMLS:C1417863, + HGNC:8024, + HGNC_symbol:NTF4 ; biolink:category biolink:Gene . OMIM:167000 a owl:Class ; @@ -488637,10 +505602,10 @@ OMIM:167000 a owl:Class ; PMID:9484846, PMID:9620555, PMID:9826475 ; - oboInOwl:hasDbXref UMLS:C0677886, - UMLS:C1140680 ; oboInOwl:hasExactSynonym "ovarian cancer", "ovarian cancer, epithelial" ; + skos:exactMatch UMLS:C0677886, + UMLS:C1140680 ; biolink:category biolink:Disease . OMIM:171300 a owl:Class ; @@ -488692,11 +505657,11 @@ OMIM:171300 a owl:Class ; PMID:9398721, PMID:9497878, PMID:9663592 ; - oboInOwl:hasDbXref UMLS:C0031511, - UMLS:C3149711, - ORPHA:29072 ; oboInOwl:hasExactSynonym "pheochromocytoma", "pheochromocytoma, susceptibility to" ; + skos:exactMatch UMLS:C0031511, + UMLS:C3149711, + ORPHA:29072 ; biolink:category biolink:Disease . OMIM:177170 a owl:Class ; @@ -488739,11 +505704,11 @@ OMIM:177170 a owl:Class ; PMID:9188668, PMID:9632164, PMID:9887340 ; - oboInOwl:hasDbXref UMLS:C0410538 ; oboInOwl:hasExactSynonym "PSACH", "pseudoachondroplasia", "pseudoachondroplastic dysplasia", "spondyloepiphyseal dysplasia, pseudoachondroplastic" ; + skos:exactMatch UMLS:C0410538 ; biolink:category biolink:Disease . OMIM:187950 a owl:Class ; @@ -488774,13 +505739,13 @@ OMIM:187950 a owl:Class ; PMID:8888933, PMID:9272712, PMID:9425899 ; - oboInOwl:hasDbXref UMLS:C3277671, - ORPHA:3318, - ORPHA:71493 ; oboInOwl:hasExactSynonym "THCYT1", "thrombocythemia 1", "thrombocytosis 1" ; rdfs:subClassOf OMIMPS:187950 ; + skos:exactMatch UMLS:C3277671, + ORPHA:3318, + ORPHA:71493 ; biolink:category biolink:Disease . OMIM:188470 a owl:Class ; @@ -488788,10 +505753,10 @@ OMIM:188470 a owl:Class ; IAO:0000142 PMID:20001717, PMID:20628519, PMID:23539728 ; - oboInOwl:hasDbXref UMLS:C4225426 ; oboInOwl:hasExactSynonym "NMTC2", "thyroid cancer, nonmedullary, 2" ; rdfs:subClassOf OMIMPS:188550 ; + skos:exactMatch UMLS:C4225426 ; biolink:category biolink:Disease . OMIM:188890 a owl:Class ; @@ -488826,13 +505791,13 @@ OMIM:188890 a owl:Class ; PMID:9603607, PMID:9925040, PMID:9925041 ; - oboInOwl:hasDbXref UMLS:C1861063 ; oboInOwl:hasExactSynonym "cigarette habituation, susceptibility to", "nicotine addiction, susceptibility to", "nicotine dependence, protection against", "nicotine dependence, susceptibility to", "smoking habit, susceptibility to", "tobacco addiction, susceptibility to" ; + skos:exactMatch UMLS:C1861063 ; biolink:category biolink:Disease . OMIM:220100 a owl:Class ; @@ -488875,10 +505840,6 @@ OMIM:220100 a owl:Class ; PMID:9042921, PMID:9042922, PMID:9805137 ; - oboInOwl:hasDbXref UMLS:C0010691, - UMLS:C1857388, - UMLS:C1857389, - UMLS:C1857390 ; oboInOwl:hasExactSynonym "csnu", "cystinuria", "cystinuria, iia B", @@ -488888,6 +505849,10 @@ OMIM:220100 a owl:Class ; "cystinuria, iia ii, formerly", "cystinuria, iia iii, formerly", "cystinuria, iia non-i, formerly" ; + skos:exactMatch UMLS:C0010691, + UMLS:C1857388, + UMLS:C1857389, + UMLS:C1857390 ; biolink:category biolink:Disease . OMIM:221900 a owl:Class ; @@ -488910,14 +505875,14 @@ OMIM:221900 a owl:Class ; PMID:950240, PMID:9514496, PMID:9677055 ; - oboInOwl:hasDbXref UMLS:C1857299, - UMLS:C1969783 ; oboInOwl:hasExactSynonym "PHPVAR", "persistent fetal vasculature", "persistent hyperplastic primary vitreous, autosomal recessive", "retinal nonattachment and falciform detachment", "retinal nonattachment, nonsyndromic congenital" ; rdfs:subClassOf OMIMPS:221900 ; + skos:exactMatch UMLS:C1857299, + UMLS:C1969783 ; biolink:category biolink:Disease . OMIM:257220 a owl:Class ; @@ -489000,9 +505965,6 @@ OMIM:257220 a owl:Class ; PMID:9245994, PMID:9512307, PMID:9634529 ; - oboInOwl:hasDbXref UMLS:C0220756, - UMLS:C3179455, - ORPHA:646 ; oboInOwl:hasExactSynonym "NPC1", "neurovisceral storage disease with vertical supranuclear ophthalmoplegia", "niemann-pick disease with cholesterol esterification block", @@ -489013,6 +505975,9 @@ OMIM:257220 a owl:Class ; "niemann-pick disease, chronic neuronopathic form", "niemann-pick disease, nova scotian iia", "niemann-pick disease, subacute juvenile form" ; + skos:exactMatch UMLS:C0220756, + UMLS:C3179455, + ORPHA:646 ; biolink:category biolink:Disease . OMIM:300257 a owl:Class ; @@ -489039,8 +506004,6 @@ OMIM:300257 a owl:Class ; PMID:7539316, PMID:7919972, PMID:8504498 ; - oboInOwl:hasDbXref UMLS:C0878677, - ORPHA:34587 ; oboInOwl:hasExactSynonym "antopol disease", "danon disease", "glycogen storage disease iib", @@ -489048,6 +506011,8 @@ OMIM:300257 a owl:Class ; "lysosomal glycogen storage disease without acid maltase deficiency, formerly", "pseudoglycogenosis 2", "vacuolar cardiomyopathy and myopathy, X-linked" ; + skos:exactMatch UMLS:C0878677, + ORPHA:34587 ; biolink:category biolink:Disease . OMIM:300419 a owl:Class ; @@ -489064,8 +506029,6 @@ OMIM:300419 a owl:Class ; PMID:8826457, PMID:8826462, PMID:9001795 ; - oboInOwl:hasDbXref UMLS:C0796244, - ORPHA:777 ; oboInOwl:hasExactSynonym "XLID29", "intellectual developmental disorder, X-linked 29", "mental retardation, X-linked 29", @@ -489078,6 +506041,8 @@ OMIM:300419 a owl:Class ; "mental retardation, X-linked 76", "mental retardation, X-linked 87" ; rdfs:subClassOf OMIMPS:309530 ; + skos:exactMatch UMLS:C0796244, + ORPHA:777 ; biolink:category biolink:Disease . OMIM:302060 a owl:Class ; @@ -489119,13 +506084,13 @@ OMIM:302060 a owl:Class ; PMID:9382096, PMID:9382097, PMID:9792874 ; - oboInOwl:hasDbXref UMLS:C0574083 ; oboInOwl:hasExactSynonym "3-methylglutaconic aciduria, iia 2", "BTHS", "barth syndrome", "cardioskeletal myopathy with neutropenia and abnormal mitochondria", "mga, iia 2" ; rdfs:subClassOf OMIMPS:250950 ; + skos:exactMatch UMLS:C0574083 ; biolink:category biolink:Disease . OMIM:312300 a owl:Class ; @@ -489154,12 +506119,12 @@ OMIM:312300 a owl:Class ; PMID:759869, PMID:834506, PMID:876326 ; - oboInOwl:hasDbXref UMLS:C0268301 ; oboInOwl:hasExactSynonym "PAIS", "androgen insensitivity, partial", "androgen insensitivity, partial, with or without breast cancer", "familial incomplete male pseudohermaphroditism, iia 1", "reifenstein syndrome" ; + skos:exactMatch UMLS:C0268301 ; biolink:category biolink:Disease . OMIM:426000 a owl:Class ; @@ -489190,7 +506155,6 @@ OMIM:426000 a owl:Class ; PMID:9156085, PMID:929180, PMID:94287 ; - oboInOwl:hasDbXref UMLS:C1539791 ; oboInOwl:hasExactSynonym "KDM5D", "h-y antigen", "histocompatibility y antigen", @@ -489200,7 +506164,9 @@ OMIM:426000 a owl:Class ; "selected cdna on y, mouse, homolog of" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:8284 ; - skos:exactMatch HGNC_symbol:KDM5D ; + skos:exactMatch UMLS:C1539791, + HGNC:11115, + HGNC_symbol:KDM5D ; biolink:category biolink:Gene . OMIM:601419 a owl:Class ; @@ -489243,8 +506209,6 @@ OMIM:601419 a owl:Class ; PMID:9673984, PMID:9697706, PMID:9736733 ; - oboInOwl:hasDbXref UMLS:C1832370, - ORPHA:98909 ; oboInOwl:hasExactSynonym "MFM1", "arrhythmogenic right ventricular cardiomyopathy 7, formerly", "arrhythmogenic right ventricular dysplasia, familial, 7, formerly", @@ -489260,6 +506224,8 @@ OMIM:601419 a owl:Class ; "myopathy, myofibrillar, 1", "myopathy, myofibrillar, desmin-related" ; rdfs:subClassOf OMIMPS:601419 ; + skos:exactMatch UMLS:C1832370, + ORPHA:98909 ; biolink:category biolink:Disease . OMIM:603075 a owl:Class ; @@ -489349,11 +506315,11 @@ OMIM:603075 a owl:Class ; PMID:9186125, PMID:9295268, PMID:9715689 ; - oboInOwl:hasDbXref UMLS:C1864205 ; oboInOwl:hasExactSynonym "ARMD1", "macular degeneration, age-related, 1", "maculopathy, age-related, 1" ; rdfs:subClassOf OMIMPS:603075 ; + skos:exactMatch UMLS:C1864205 ; biolink:category biolink:Disease . OMIM:603932 a owl:Class ; @@ -489369,15 +506335,15 @@ OMIM:603932 a owl:Class ; PMID:18455130, PMID:7593075, PMID:9589542 ; - oboInOwl:hasDbXref UMLS:C0158252, - UMLS:C0221775, - UMLS:C2675551, - UMLS:C2676840 ; oboInOwl:hasExactSynonym "IDD", "intervertebral disc disease", "lumbar disc degeneration, susceptibility to", "lumbar disc disease", "lumbar disc herniation, susceptibility to" ; + skos:exactMatch UMLS:C0158252, + UMLS:C0221775, + UMLS:C2675551, + UMLS:C2676840 ; biolink:category biolink:Disease . OMIM:613065 a owl:Class ; @@ -489411,12 +506377,6 @@ OMIM:613065 a owl:Class ; PMID:7665185, PMID:9531611 ; RO:0002525 CHR:9606chr10q21 ; - oboInOwl:hasDbXref UMLS:C1961102, - UMLS:C2751594, - UMLS:C2751595, - UMLS:C2751596, - UMLS:C2751597, - UMLS:C2751598 ; oboInOwl:hasExactSynonym "ALL", "all1", "leukemia, acute lymphoblastic", @@ -489425,6 +506385,12 @@ OMIM:613065 a owl:Class ; "leukemia, acute lymphocytic, susceptibility to, 1", "leukemia, b-cell acute lymphoblastic, susceptibility to", "leukemia, t-cell acute lymphoblastic, susceptibility to" ; + skos:exactMatch UMLS:C1961102, + UMLS:C2751594, + UMLS:C2751595, + UMLS:C2751596, + UMLS:C2751597, + UMLS:C2751598 ; biolink:category biolink:Disease . OMIM:613091 a owl:Class ; @@ -489457,8 +506423,6 @@ OMIM:613091 a owl:Class ; PMID:834893, PMID:8532628, PMID:894422 ; - oboInOwl:hasDbXref UMLS:C0036069, - UMLS:C0432197 ; oboInOwl:hasExactSynonym "SRTD3", "asphyxiating thoracic dystrophy 3", "polydactyly with neonatal chondrodystrophy, iia 1", @@ -489470,194 +506434,156 @@ OMIM:613091 a owl:Class ; "short-rib thoracic dysplasia 3 with or without polydactyly", "verma-naumoff syndrome" ; rdfs:subClassOf OMIMPS:208500 ; + skos:exactMatch UMLS:C0036069, + UMLS:C0432197 ; biolink:category biolink:Disease . -OMIMPS:100070 a owl:Class ; - rdfs:label "Aortic aneurysm, familial abdominal" ; - biolink:category biolink:Disease . - -OMIMPS:103900 a owl:Class ; - rdfs:label "Hyperaldosteronism" ; - biolink:category biolink:Disease . - -OMIMPS:115150 a owl:Class ; - rdfs:label "Cardiofaciocutaneous syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:118100 a owl:Class ; - rdfs:label "Klippel-Feil syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:120100 a owl:Class ; - rdfs:label "Familial cold autoinflammatory syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:122000 a owl:Class ; - rdfs:label "Corneal dystrophy, posterior polymorphous" ; - biolink:category biolink:Disease . - -OMIMPS:131100 a owl:Class ; - rdfs:label "Multiple endocrine neoplasia" ; - biolink:category biolink:Disease . - -OMIMPS:136500 a owl:Class ; - rdfs:label "Focal facial dermal dysplasia" ; - biolink:category biolink:Disease . - -OMIMPS:141500 a owl:Class ; - rdfs:label "Migraine, familial hemiplegic" ; - biolink:category biolink:Disease . - -OMIMPS:143890 a owl:Class ; - rdfs:label "Hypercholesterolemia, familial" ; - biolink:category biolink:Disease . - -OMIMPS:149400 a owl:Class ; - rdfs:label "Hyperekplexia" ; +OMIMPS:102200 a owl:Class ; + rdfs:label "Pituitary adenoma" ; biolink:category biolink:Disease . -OMIMPS:154500 a owl:Class ; - rdfs:label "Treacher Collins syndrome" ; +OMIMPS:108300 a owl:Class ; + rdfs:label "Stickler syndrome" ; biolink:category biolink:Disease . -OMIMPS:157600 a owl:Class ; - rdfs:label "Mirror movements" ; +OMIMPS:109720 a owl:Class ; + rdfs:label "Biliary cirrhosis, primary" ; biolink:category biolink:Disease . -OMIMPS:158900 a owl:Class ; - rdfs:label "Facioscapulohumeral muscular dystrophy" ; +OMIMPS:122470 a owl:Class ; + rdfs:label "Cornelia de Lange syndrome" ; biolink:category biolink:Disease . -OMIMPS:164310 a owl:Class ; - rdfs:label "Oculopharyngodistal myopathy" ; +OMIMPS:126200 a owl:Class ; + rdfs:label "Multiple sclerosis, susceptibility to" ; biolink:category biolink:Disease . -OMIMPS:174050 a owl:Class ; - rdfs:label "Polycystic liver disease" ; +OMIMPS:134600 a owl:Class ; + rdfs:label "Fanconi renotubular syndrome" ; biolink:category biolink:Disease . -OMIMPS:174400 a owl:Class ; - rdfs:label "Polydactyly, preaxial" ; +OMIMPS:135300 a owl:Class ; + rdfs:label "Gingival fibromatosis" ; biolink:category biolink:Disease . -OMIMPS:175100 a owl:Class ; - rdfs:label "Familial adenomatous polyposis" ; +OMIMPS:145260 a owl:Class ; + rdfs:label "Pseudohypoaldosteronism, type II" ; biolink:category biolink:Disease . -OMIMPS:179800 a owl:Class ; - rdfs:label "Distal renal tubular acidosis" ; +OMIMPS:153840 a owl:Class ; + rdfs:label "Macular dystrophy, vitelliform" ; biolink:category biolink:Disease . -OMIMPS:184450 a owl:Class ; - rdfs:label "Stuttering, familial persistent" ; +OMIMPS:158350 a owl:Class ; + rdfs:label "Cowden disease" ; biolink:category biolink:Disease . -OMIMPS:186500 a owl:Class ; - rdfs:label "Multiple synostoses syndrome" ; +OMIMPS:162000 a owl:Class ; + rdfs:label "Tubulointerstitial kidney disease" ; biolink:category biolink:Disease . -OMIMPS:203650 a owl:Class ; - rdfs:label "Alopecia-intellectual disability syndrome" ; +OMIMPS:167200 a owl:Class ; + rdfs:label "Pachyonychia congenita" ; biolink:category biolink:Disease . -OMIMPS:208150 a owl:Class ; - rdfs:label "Fetal akinesia deformation sequence" ; +OMIMPS:167250 a owl:Class ; + rdfs:label "Paget disease of bone" ; biolink:category biolink:Disease . -OMIMPS:214150 a owl:Class ; - rdfs:label "Cerebrooculofacioskeletal syndrome" ; +OMIMPS:178600 a owl:Class ; + rdfs:label "Pulmonary hypertension, primary" ; biolink:category biolink:Disease . -OMIMPS:215100 a owl:Class ; - rdfs:label "Rhizomelic chondrodysplasia punctata" ; +OMIMPS:179010 a owl:Class ; + rdfs:label "Pyloric stenosis, infantile hypertrophic" ; biolink:category biolink:Disease . -OMIMPS:218330 a owl:Class ; - rdfs:label "Cranioectodermal dysplasia" ; +OMIMPS:180860 a owl:Class ; + rdfs:label "Silver-Russell syndrome" ; biolink:category biolink:Disease . -OMIMPS:220210 a owl:Class ; - rdfs:label "Ritscher-Schinzel syndrome" ; +OMIMPS:187300 a owl:Class ; + rdfs:label "Telangiectasia, hereditary hemorrhagic" ; biolink:category biolink:Disease . -OMIMPS:224050 a owl:Class ; - rdfs:label "Cerebellar ataxia, mental retardation, and dysequilibrium" ; +OMIMPS:188550 a owl:Class ; + rdfs:label "Thyroid cancer, nonmedullary" ; biolink:category biolink:Disease . -OMIMPS:230400 a owl:Class ; - rdfs:label "Galactosemia" ; +OMIMPS:189800 a owl:Class ; + rdfs:label "Preeclampsia/eclampsia" ; biolink:category biolink:Disease . -OMIMPS:231090 a owl:Class ; - rdfs:label "Hydatidiform mole, recurrent" ; +OMIMPS:193100 a owl:Class ; + rdfs:label "Hypophosphatemic rickets" ; biolink:category biolink:Disease . -OMIMPS:236600 a owl:Class ; - rdfs:label "Hydrocephalus, congenital" ; +OMIMPS:202200 a owl:Class ; + rdfs:label "Glucocorticoid deficiency" ; biolink:category biolink:Disease . -OMIMPS:242860 a owl:Class ; - rdfs:label "Immunodeficiency-centromeric instability-facial anomalies" ; +OMIMPS:226400 a owl:Class ; + rdfs:label "Epidermodysplasia verruciformis, susceptibility to" ; biolink:category biolink:Disease . -OMIMPS:252011 a owl:Class ; - rdfs:label "Mitochondrial complex II deficiency, nuclear type" ; +OMIMPS:249210 a owl:Class ; + rdfs:label "Megacystis-microcolon-intestinal hypoperistalsis syndrome" ; biolink:category biolink:Disease . -OMIMPS:276300 a owl:Class ; - rdfs:label "Mismatch repair cancer syndrome" ; +OMIMPS:249270 a owl:Class ; + rdfs:label "Thiamine-responsive dysfunction syndrome" ; biolink:category biolink:Disease . -OMIMPS:277600 a owl:Class ; - rdfs:label "Weill-Marchesani syndrome" ; +OMIMPS:256040 a owl:Class ; + rdfs:label "Proteosome-associated autoinflammatory syndrome" ; biolink:category biolink:Disease . -OMIMPS:300633 a owl:Class ; - rdfs:label "Hypospadias" ; +OMIMPS:262400 a owl:Class ; + rdfs:label "Isolated growth hormone deficiency" ; biolink:category biolink:Disease . -OMIMPS:600118 a owl:Class ; - rdfs:label "Warburg micro syndrome" ; +OMIMPS:265120 a owl:Class ; + rdfs:label "Surfactant metabolism dysfunction, pulmonary" ; biolink:category biolink:Disease . -OMIMPS:600165 a owl:Class ; - rdfs:label "Nanophthalmos" ; +OMIMPS:267700 a owl:Class ; + rdfs:label "Hemophagocytic lymphohistiocytosis, familial" ; biolink:category biolink:Disease . -OMIMPS:600803 a owl:Class ; - rdfs:label "Gallbladder disease" ; +OMIMPS:268310 a owl:Class ; + rdfs:label "Robinow syndrome" ; biolink:category biolink:Disease . -OMIMPS:604364 a owl:Class ; - rdfs:label "Epilepsy, familial focal, with variable foci" ; +OMIMPS:277400 a owl:Class ; + rdfs:label "Methylmalonic aciduria and homocystinuria" ; biolink:category biolink:Disease . -OMIMPS:604370 a owl:Class ; - rdfs:label "Breast-ovarian cancer, familial, susceptibility to" ; +OMIMPS:300751 a owl:Class ; + rdfs:label "Anemia, Sideroblastic" ; biolink:category biolink:Disease . -OMIMPS:605552 a owl:Class ; - rdfs:label "Abdominal obesity-metabolic syndrome" ; +OMIMPS:305400 a owl:Class ; + rdfs:label "FG syndrome" ; biolink:category biolink:Disease . -OMIMPS:606176 a owl:Class ; - rdfs:label "Diabetes mellitus, permanent neonatal" ; +OMIMPS:308230 a owl:Class ; + rdfs:label "Immunodeficiency with hyper-IgM" ; biolink:category biolink:Disease . -OMIMPS:606711 a owl:Class ; - rdfs:label "Specific language impairment" ; +OMIMPS:308240 a owl:Class ; + rdfs:label "Lymphoproliferative syndrome" ; biolink:category biolink:Disease . -OMIMPS:608594 a owl:Class ; - rdfs:label "Lipodystrophy, congenital generalized" ; +OMIMPS:600131 a owl:Class ; + rdfs:label "Epilepsy, childhood absence" ; biolink:category biolink:Disease . -OMIMPS:610489 a owl:Class ; - rdfs:label "Pigmented nodular adrenocortical disease, primary" ; +OMIMPS:600513 a owl:Class ; + rdfs:label "Epilepsy, nocturnal frontal lobe" ; biolink:category biolink:Disease . -OMIMPS:614080 a owl:Class ; - rdfs:label "Multiple congenital anomalies-hypotonia-seizures syndrome" ; +OMIMPS:606215 a owl:Class ; + rdfs:label "Atrioventricular septal defect" ; biolink:category biolink:Disease . OMIM:134629 a owl:Class ; @@ -489669,13 +506595,14 @@ OMIM:134629 a owl:Class ; PMID:8188698 ; RO:0002525 CHR:9606chr1q22 ; RO:0003303 OMIM:616631 ; - oboInOwl:hasDbXref UMLS:C1414564 ; oboInOwl:hasExactSynonym "FDPS", "farnesyl diphosphate synthase", "farnesylpyrophosphate synthetase" ; rdfs:subClassOf SO:0000704 ; owl:equivalentClass NCBIGene:2224 ; - skos:exactMatch HGNC_symbol:FDPS ; + skos:exactMatch UMLS:C1414564, + HGNC:3631, + HGNC_symbol:FDPS ; biolink:category biolink:Gene . OMIM:143465 a owl:Class ; @@ -489724,10 +506651,10 @@ OMIM:143465 a owl:Class ; PMID:9199546, PMID:9837830, PMID:9878644 ; - oboInOwl:hasDbXref UMLS:C1263846 ; oboInOwl:hasExactSynonym "ADHD", "attention deficit-hyperactivity disorder", "hyperactivity of childhood" ; + skos:exactMatch UMLS:C1263846 ; biolink:category biolink:Disease . OMIM:152700 a owl:Class ; @@ -489879,11 +506806,11 @@ OMIM:152700 a owl:Class ; PMID:9719383, PMID:9719384, PMID:9843983 ; - oboInOwl:hasDbXref UMLS:C0024141 ; oboInOwl:hasExactSynonym "SLE", "excess lmw-dna", "excess lymphocyte low molecular weight DNA", "systemic lupus erythematosus" ; + skos:exactMatch UMLS:C0024141 ; biolink:category biolink:Disease . OMIM:157640 a owl:Class ; @@ -489910,12 +506837,12 @@ OMIM:157640 a owl:Class ; PMID:8941270, PMID:8981296, PMID:9443501 ; - oboInOwl:hasDbXref UMLS:C1834846, - ORPHA:254892 ; oboInOwl:hasExactSynonym "PEOA1", "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1", "progressive external ophthalmoplegia, autosomal dominant 1" ; rdfs:subClassOf OMIMPS:157640 ; + skos:exactMatch UMLS:C1834846, + ORPHA:254892 ; biolink:category biolink:Disease . OMIM:167800 a owl:Class ; @@ -489965,8 +506892,6 @@ OMIM:167800 a owl:Class ; PMID:9557894, PMID:9725921, PMID:9725922 ; - oboInOwl:hasDbXref UMLS:C0238339, - ORPHA:676 ; oboInOwl:hasExactSynonym "PCTT", "hp", "hpc", @@ -489975,6 +506900,8 @@ OMIM:167800 a owl:Class ; "pancreatitis, chronic, protection against", "pancreatitis, chronic, susceptibility to", "pancreatitis, hereditary" ; + skos:exactMatch UMLS:C0238339, + ORPHA:676 ; biolink:category biolink:Disease . OMIM:180300 a owl:Class ; @@ -490052,11 +506979,11 @@ OMIM:180300 a owl:Class ; PMID:9724775, PMID:9843218 ; RO:0002525 CHR:9606chr6q23 ; - oboInOwl:hasDbXref UMLS:C0003873, - UMLS:C1833448 ; oboInOwl:hasExactSynonym "RA", "rheumatoid arthritis", "rheumatoid arthritis, susceptibility to" ; + skos:exactMatch UMLS:C0003873, + UMLS:C1833448 ; biolink:category biolink:Disease . OMIM:182940 a owl:Class ; @@ -490098,11 +507025,11 @@ OMIM:182940 a owl:Class ; PMID:794474, PMID:8733136, PMID:8957506 ; - oboInOwl:hasDbXref UMLS:C0080178, - UMLS:C3891448 ; oboInOwl:hasExactSynonym "NTD", "neural tube defects, susceptibility to", "spina bifida" ; + skos:exactMatch UMLS:C0080178, + UMLS:C3891448 ; biolink:category biolink:Disease . OMIM:258870 a owl:Class ; @@ -490139,7 +507066,6 @@ OMIM:258870 a owl:Class ; PMID:7550347, PMID:8982944, PMID:917049 ; - oboInOwl:hasDbXref UMLS:C0018425 ; oboInOwl:hasExactSynonym "GACR", "gyrate atrophy", "gyrate atrophy of choroid and retina", @@ -490149,6 +507075,7 @@ OMIM:258870 a owl:Class ; "ornithine aminotransferase deficiency", "ornithine keto acid aminotransferase deficiency", "ornithine-delta-aminotransferase deficiency" ; + skos:exactMatch UMLS:C0018425 ; biolink:category biolink:Disease . OMIM:600807 a owl:Class ; @@ -490234,14 +507161,14 @@ OMIM:600807 a owl:Class ; PMID:9700192, PMID:9782093, PMID:9799590 ; - oboInOwl:hasDbXref UMLS:C1833269, - UMLS:C1833270, - UMLS:C1869116 ; oboInOwl:hasExactSynonym "asthma, bronchial", "asthma, diminished response to antileukotriene treatment 1n", "asthma, protection against", "asthma, susceptibility to", "asthma-related traits, susceptibility to" ; + skos:exactMatch UMLS:C1833269, + UMLS:C1833270, + UMLS:C1869116 ; biolink:category biolink:Disease . OMIM:603896 a owl:Class ; @@ -490278,8 +507205,6 @@ OMIM:603896 a owl:Class ; PMID:9109866, PMID:9153528, PMID:9710032 ; - oboInOwl:hasDbXref UMLS:C1847967, - UMLS:C1858991 ; oboInOwl:hasExactSynonym "VWM", "childhood ataxia with central nervous system hypomyelinization", "cree leukoencephalopathy", @@ -490287,6 +507212,8 @@ OMIM:603896 a owl:Class ; "ovarioleukodystrophy", "vanishing white matter leukodystrophy", "vanishing white matter leukodystrophy with ovarian failure" ; + skos:exactMatch UMLS:C1847967, + UMLS:C1858991 ; biolink:category biolink:Disease . OMIM:607174 a owl:Class ; @@ -490344,8 +507271,8 @@ OMIM:607174 a owl:Class ; PMID:8505975, PMID:912941, PMID:9488313 ; - oboInOwl:hasDbXref UMLS:C3551915 ; oboInOwl:hasExactSynonym "meningioma, familial, susceptibility to" ; + skos:exactMatch UMLS:C3551915 ; biolink:category biolink:Disease . OMIM:608516 a owl:Class ; @@ -490403,12 +507330,12 @@ OMIM:608516 a owl:Class ; PMID:8629888, PMID:8966556, PMID:9399885 ; - oboInOwl:hasDbXref UMLS:C0085159, - UMLS:C1269683 ; oboInOwl:hasExactSynonym "MDD", "major depressive disorder", "seasonal affective disorder", "unipolar depression" ; + skos:exactMatch UMLS:C0085159, + UMLS:C1269683 ; biolink:category biolink:Disease . OMIM:614286 a owl:Class ; @@ -490419,159 +507346,143 @@ OMIM:614286 a owl:Class ; PMID:21995386, PMID:25671252, PMID:30322869 ; - oboInOwl:hasDbXref UMLS:C3463824, - ORPHA:52688 ; oboInOwl:hasExactSynonym "MDS", "myelodysplastic syndrome", "myelodysplastic syndrome, susceptibility to" ; + skos:exactMatch UMLS:C3463824, + ORPHA:52688 ; biolink:category biolink:Disease . -OMIMPS:102200 a owl:Class ; - rdfs:label "Pituitary adenoma" ; - biolink:category biolink:Disease . - -OMIMPS:108300 a owl:Class ; - rdfs:label "Stickler syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:109720 a owl:Class ; - rdfs:label "Biliary cirrhosis, primary" ; - biolink:category biolink:Disease . - -OMIMPS:122470 a owl:Class ; - rdfs:label "Cornelia de Lange syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:126200 a owl:Class ; - rdfs:label "Multiple sclerosis, susceptibility to" ; +OMIMPS:100300 a owl:Class ; + rdfs:label "Adams-Oliver syndrome" ; biolink:category biolink:Disease . -OMIMPS:134600 a owl:Class ; - rdfs:label "Fanconi renotubular syndrome" ; +OMIMPS:115210 a owl:Class ; + rdfs:label "Familial restrictive cardiomyopathy" ; biolink:category biolink:Disease . -OMIMPS:135300 a owl:Class ; - rdfs:label "Gingival fibromatosis" ; +OMIMPS:135700 a owl:Class ; + rdfs:label "Fibrosis of extraocular muscles, congenital" ; biolink:category biolink:Disease . -OMIMPS:145260 a owl:Class ; - rdfs:label "Pseudohypoaldosteronism, type II" ; +OMIMPS:145000 a owl:Class ; + rdfs:label "Hyperparathyroidism" ; biolink:category biolink:Disease . -OMIMPS:153840 a owl:Class ; - rdfs:label "Macular dystrophy, vitelliform" ; +OMIMPS:145600 a owl:Class ; + rdfs:label "Malignant hyperthermia" ; biolink:category biolink:Disease . -OMIMPS:158350 a owl:Class ; - rdfs:label "Cowden disease" ; +OMIMPS:147060 a owl:Class ; + rdfs:label "Hyper-IgE recurrent infection syndrome" ; biolink:category biolink:Disease . -OMIMPS:162000 a owl:Class ; - rdfs:label "Tubulointerstitial kidney disease" ; +OMIMPS:160150 a owl:Class ; + rdfs:label "Myopathy, centronuclear" ; biolink:category biolink:Disease . -OMIMPS:167200 a owl:Class ; - rdfs:label "Pachyonychia congenita" ; +OMIMPS:173900 a owl:Class ; + rdfs:label "Polycystic kidney disease" ; biolink:category biolink:Disease . -OMIMPS:167250 a owl:Class ; - rdfs:label "Paget disease of bone" ; +OMIMPS:179850 a owl:Class ; + rdfs:label "Reticulate pigment disorders" ; biolink:category biolink:Disease . -OMIMPS:178600 a owl:Class ; - rdfs:label "Pulmonary hypertension, primary" ; +OMIMPS:190300 a owl:Class ; + rdfs:label "Tremor, hereditary essential" ; biolink:category biolink:Disease . -OMIMPS:179010 a owl:Class ; - rdfs:label "Pyloric stenosis, infantile hypertrophic" ; +OMIMPS:194070 a owl:Class ; + rdfs:label "Wilms tumor" ; biolink:category biolink:Disease . -OMIMPS:180860 a owl:Class ; - rdfs:label "Silver-Russell syndrome" ; +OMIMPS:213600 a owl:Class ; + rdfs:label "Basal ganglia calcification, idiopathic" ; biolink:category biolink:Disease . -OMIMPS:187300 a owl:Class ; - rdfs:label "Telangiectasia, hereditary hemorrhagic" ; +OMIMPS:224120 a owl:Class ; + rdfs:label "Anemia, congenital dyserythropoietic" ; biolink:category biolink:Disease . -OMIMPS:188550 a owl:Class ; - rdfs:label "Thyroid cancer, nonmedullary" ; +OMIMPS:233400 a owl:Class ; + rdfs:label "Perrault syndrome" ; biolink:category biolink:Disease . -OMIMPS:189800 a owl:Class ; - rdfs:label "Preeclampsia/eclampsia" ; +OMIMPS:237450 a owl:Class ; + rdfs:label "Hyperbilirubinemia" ; biolink:category biolink:Disease . -OMIMPS:193100 a owl:Class ; - rdfs:label "Hypophosphatemic rickets" ; +OMIMPS:239300 a owl:Class ; + rdfs:label "Hyperphosphatasia with mental retardation syndrome" ; biolink:category biolink:Disease . -OMIMPS:202200 a owl:Class ; - rdfs:label "Glucocorticoid deficiency" ; +OMIMPS:252350 a owl:Class ; + rdfs:label "Moyamoya disease" ; biolink:category biolink:Disease . -OMIMPS:226400 a owl:Class ; - rdfs:label "Epidermodysplasia verruciformis, susceptibility to" ; +OMIMPS:270300 a owl:Class ; + rdfs:label "Peeling skin syndrome" ; biolink:category biolink:Disease . -OMIMPS:249210 a owl:Class ; - rdfs:label "Megacystis-microcolon-intestinal hypoperistalsis syndrome" ; +OMIMPS:277300 a owl:Class ; + rdfs:label "Spondylocostal dysostosis" ; biolink:category biolink:Disease . -OMIMPS:249270 a owl:Class ; - rdfs:label "Thiamine-responsive dysfunction syndrome" ; +OMIMPS:306400 a owl:Class ; + rdfs:label "Granulomatous disease, chronic" ; biolink:category biolink:Disease . -OMIMPS:256040 a owl:Class ; - rdfs:label "Proteosome-associated autoinflammatory syndrome" ; +OMIMPS:312170 a owl:Class ; + rdfs:label "Pyruvate dehydrogenase complex deficiency" ; biolink:category biolink:Disease . -OMIMPS:262400 a owl:Class ; - rdfs:label "Isolated growth hormone deficiency" ; +OMIMPS:601678 a owl:Class ; + rdfs:label "Bartter syndrome" ; biolink:category biolink:Disease . -OMIMPS:265120 a owl:Class ; - rdfs:label "Surfactant metabolism dysfunction, pulmonary" ; +OMIMPS:601764 a owl:Class ; + rdfs:label "Seizures, benign familial infantile" ; biolink:category biolink:Disease . -OMIMPS:267700 a owl:Class ; - rdfs:label "Hemophagocytic lymphohistiocytosis, familial" ; +OMIMPS:602014 a owl:Class ; + rdfs:label "Hypomagnesemia" ; biolink:category biolink:Disease . -OMIMPS:268310 a owl:Class ; - rdfs:label "Robinow syndrome" ; +OMIMPS:603511 a owl:Class ; + rdfs:label "Muscular dystrophy, limb-girdle, autosomal dominant" ; biolink:category biolink:Disease . -OMIMPS:277400 a owl:Class ; - rdfs:label "Methylmalonic aciduria and homocystinuria" ; +OMIMPS:604273 a owl:Class ; + rdfs:label "Mitochondrial complex V (ATP synthase) deficiency, nuclear type" ; biolink:category biolink:Disease . -OMIMPS:300751 a owl:Class ; - rdfs:label "Anemia, Sideroblastic" ; +OMIMPS:604772 a owl:Class ; + rdfs:label "Ventricular tachycardia, catecholaminergic polymorphic" ; biolink:category biolink:Disease . -OMIMPS:305400 a owl:Class ; - rdfs:label "FG syndrome" ; +OMIMPS:605711 a owl:Class ; + rdfs:label "Multiple mitochondrial dysfunctions syndrome" ; biolink:category biolink:Disease . -OMIMPS:308230 a owl:Class ; - rdfs:label "Immunodeficiency with hyper-IgM" ; +OMIMPS:607765 a owl:Class ; + rdfs:label "Bile acid synthesis defect, congenital" ; biolink:category biolink:Disease . -OMIMPS:308240 a owl:Class ; - rdfs:label "Lymphoproliferative syndrome" ; +OMIMPS:608638 a owl:Class ; + rdfs:label "Asperger syndrome, susceptibility to" ; biolink:category biolink:Disease . -OMIMPS:600131 a owl:Class ; - rdfs:label "Epilepsy, childhood absence" ; +OMIMPS:609192 a owl:Class ; + rdfs:label "Loeys-Dietz syndrome" ; biolink:category biolink:Disease . -OMIMPS:600513 a owl:Class ; - rdfs:label "Epilepsy, nocturnal frontal lobe" ; +OMIMPS:614742 a owl:Class ; + rdfs:label "Pulmonary fibrosis and/or bone marrow failure, telomere-related" ; biolink:category biolink:Disease . -OMIMPS:606215 a owl:Class ; - rdfs:label "Atrioventricular septal defect" ; +OMIMPS:617468 a owl:Class ; + rdfs:label "Arthrogryposis multiplex congenita" ; biolink:category biolink:Disease . OMIM:114550 a owl:Class ; @@ -490621,12 +507532,6 @@ OMIM:114550 a owl:Class ; PMID:7892276, PMID:8764128, PMID:9589695 ; - oboInOwl:hasDbXref UMLS:C0345904, - UMLS:C2239176, - ORPHA:210159, - ORPHA:33402, - ORPHA:449, - ORPHA:88673 ; oboInOwl:hasExactSynonym "cancer, hepatocellular", "hcc", "hepatoblastoma", @@ -490635,6 +507540,12 @@ OMIM:114550 a owl:Class ; "hepatoma", "liver cancer", "liver cell carcinoma" ; + skos:exactMatch UMLS:C0345904, + UMLS:C2239176, + ORPHA:210159, + ORPHA:33402, + ORPHA:449, + ORPHA:88673 ; biolink:category biolink:Disease . OMIM:143890 a owl:Class ; @@ -490778,9 +507689,6 @@ OMIM:143890 a owl:Class ; PMID:975887, PMID:975893, PMID:9853432 ; - oboInOwl:hasDbXref UMLS:C0745103, - UMLS:C3276941, - ORPHA:391665 ; oboInOwl:hasExactSynonym "FHCL1", "fhc", "hyper-low-density-lipoproteinemia", @@ -490791,6 +507699,9 @@ OMIM:143890 a owl:Class ; "ldl receptor disorder", "low density lipoprotein cholesterol level quantitative trait locus 2" ; rdfs:subClassOf OMIMPS:143890 ; + skos:exactMatch UMLS:C0745103, + UMLS:C3276941, + ORPHA:391665 ; biolink:category biolink:Disease . OMIM:155100 a owl:Class ; @@ -490835,13 +507746,6 @@ OMIM:155100 a owl:Class ; PMID:8280620, PMID:9116284, PMID:945691 ; - oboInOwl:hasDbXref UMLS:C0340978, - UMLS:C0398641, - UMLS:C0403445, - UMLS:C1842035, - UMLS:C1854520, - ORPHA:182050, - ORPHA:850 ; oboInOwl:hasExactSynonym "MATINS", "alport syndrome with macrothrombocytopenia, formerly", "bleeding disorder, platelet-type, 6", @@ -490859,6 +507763,13 @@ OMIM:155100 a owl:Class ; "sebastian platelet syndrome", "sebastian syndrome" ; rdfs:subClassOf OMIMPS:231200 ; + skos:exactMatch UMLS:C0340978, + UMLS:C0398641, + UMLS:C0403445, + UMLS:C1842035, + UMLS:C1854520, + ORPHA:182050, + ORPHA:850 ; biolink:category biolink:Disease . OMIM:211980 a owl:Class ; @@ -490918,148 +507829,104 @@ OMIM:211980 a owl:Class ; PMID:7914565, PMID:8610670, PMID:8807325 ; - oboInOwl:hasDbXref UMLS:C0007120, - UMLS:C0007131, - UMLS:C0152013, - UMLS:C0684249, - UMLS:C1968897 ; oboInOwl:hasExactSynonym "adenocarcinoma of lung", "alveolar cell carcinoma", "lung cancer", "lung cancer, protection against", "nonsmall cell lung cancer" ; + skos:exactMatch UMLS:C0007120, + UMLS:C0007131, + UMLS:C0152013, + UMLS:C0684249, + UMLS:C1968897 ; biolink:category biolink:Disease . -OMIMPS:100300 a owl:Class ; - rdfs:label "Adams-Oliver syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:115210 a owl:Class ; - rdfs:label "Familial restrictive cardiomyopathy" ; - biolink:category biolink:Disease . - -OMIMPS:135700 a owl:Class ; - rdfs:label "Fibrosis of extraocular muscles, congenital" ; - biolink:category biolink:Disease . - -OMIMPS:145000 a owl:Class ; - rdfs:label "Hyperparathyroidism" ; - biolink:category biolink:Disease . - -OMIMPS:145600 a owl:Class ; - rdfs:label "Malignant hyperthermia" ; - biolink:category biolink:Disease . - -OMIMPS:147060 a owl:Class ; - rdfs:label "Hyper-IgE recurrent infection syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:160150 a owl:Class ; - rdfs:label "Myopathy, centronuclear" ; - biolink:category biolink:Disease . - -OMIMPS:173900 a owl:Class ; - rdfs:label "Polycystic kidney disease" ; - biolink:category biolink:Disease . - -OMIMPS:179850 a owl:Class ; - rdfs:label "Reticulate pigment disorders" ; - biolink:category biolink:Disease . - -OMIMPS:190300 a owl:Class ; - rdfs:label "Tremor, hereditary essential" ; - biolink:category biolink:Disease . - -OMIMPS:194070 a owl:Class ; - rdfs:label "Wilms tumor" ; - biolink:category biolink:Disease . - -OMIMPS:213600 a owl:Class ; - rdfs:label "Basal ganglia calcification, idiopathic" ; +OMIMPS:106100 a owl:Class ; + rdfs:label "Angioedema, Hereditary" ; biolink:category biolink:Disease . -OMIMPS:224120 a owl:Class ; - rdfs:label "Anemia, congenital dyserythropoietic" ; +OMIMPS:120435 a owl:Class ; + rdfs:label "Colorectal cancer, hereditary nonpolyposis" ; biolink:category biolink:Disease . -OMIMPS:233400 a owl:Class ; - rdfs:label "Perrault syndrome" ; +OMIMPS:123100 a owl:Class ; + rdfs:label "Craniosynostosis" ; biolink:category biolink:Disease . -OMIMPS:237450 a owl:Class ; - rdfs:label "Hyperbilirubinemia" ; +OMIMPS:132400 a owl:Class ; + rdfs:label "Epiphyseal dysplasia, multiple" ; biolink:category biolink:Disease . -OMIMPS:239300 a owl:Class ; - rdfs:label "Hyperphosphatasia with mental retardation syndrome" ; +OMIMPS:133100 a owl:Class ; + rdfs:label "Erythrocytosis, familial" ; biolink:category biolink:Disease . -OMIMPS:252350 a owl:Class ; - rdfs:label "Moyamoya disease" ; +OMIMPS:133200 a owl:Class ; + rdfs:label "Erythrokeratodermia variabilis et progressiva" ; biolink:category biolink:Disease . -OMIMPS:270300 a owl:Class ; - rdfs:label "Peeling skin syndrome" ; +OMIMPS:133780 a owl:Class ; + rdfs:label "Exudative vitreoretinopathy" ; biolink:category biolink:Disease . -OMIMPS:277300 a owl:Class ; - rdfs:label "Spondylocostal dysostosis" ; +OMIMPS:151660 a owl:Class ; + rdfs:label "Lipodystrophy, familial partial" ; biolink:category biolink:Disease . -OMIMPS:306400 a owl:Class ; - rdfs:label "Granulomatous disease, chronic" ; +OMIMPS:161400 a owl:Class ; + rdfs:label "Narcolepsy" ; biolink:category biolink:Disease . -OMIMPS:312170 a owl:Class ; - rdfs:label "Pyruvate dehydrogenase complex deficiency" ; +OMIMPS:168000 a owl:Class ; + rdfs:label "Paragangliomas" ; biolink:category biolink:Disease . -OMIMPS:601678 a owl:Class ; - rdfs:label "Bartter syndrome" ; +OMIMPS:183600 a owl:Class ; + rdfs:label "Split-hand/foot malformation" ; biolink:category biolink:Disease . -OMIMPS:601764 a owl:Class ; - rdfs:label "Seizures, benign familial infantile" ; +OMIMPS:235200 a owl:Class ; + rdfs:label "Hemochromatosis" ; biolink:category biolink:Disease . -OMIMPS:602014 a owl:Class ; - rdfs:label "Hypomagnesemia" ; +OMIMPS:235400 a owl:Class ; + rdfs:label "Hemolytic uremic syndrome" ; biolink:category biolink:Disease . -OMIMPS:603511 a owl:Class ; - rdfs:label "Muscular dystrophy, limb-girdle, autosomal dominant" ; +OMIMPS:256450 a owl:Class ; + rdfs:label "Hyperinsulinemia hypoglycemia" ; biolink:category biolink:Disease . -OMIMPS:604273 a owl:Class ; - rdfs:label "Mitochondrial complex V (ATP synthase) deficiency, nuclear type" ; +OMIMPS:304500 a owl:Class ; + rdfs:label "Deafness, X-linked" ; biolink:category biolink:Disease . -OMIMPS:604772 a owl:Class ; - rdfs:label "Ventricular tachycardia, catecholaminergic polymorphic" ; +OMIMPS:310300 a owl:Class ; + rdfs:label "Emery-Dreifuss muscular dystrophy" ; biolink:category biolink:Disease . -OMIMPS:605711 a owl:Class ; - rdfs:label "Multiple mitochondrial dysfunctions syndrome" ; +OMIMPS:313900 a owl:Class ; + rdfs:label "Thrombocytopenia" ; biolink:category biolink:Disease . -OMIMPS:607765 a owl:Class ; - rdfs:label "Bile acid synthesis defect, congenital" ; +OMIMPS:601068 a owl:Class ; + rdfs:label "Epilepsy, familial adult myoclonic" ; biolink:category biolink:Disease . -OMIMPS:608638 a owl:Class ; - rdfs:label "Asperger syndrome, susceptibility to" ; +OMIMPS:602875 a owl:Class ; + rdfs:label "Acromesomelic dysplasia" ; biolink:category biolink:Disease . -OMIMPS:609192 a owl:Class ; - rdfs:label "Loeys-Dietz syndrome" ; +OMIMPS:603933 a owl:Class ; + rdfs:label "Microvascular complications of diabetes" ; biolink:category biolink:Disease . -OMIMPS:614742 a owl:Class ; - rdfs:label "Pulmonary fibrosis and/or bone marrow failure, telomere-related" ; +OMIMPS:613038 a owl:Class ; + rdfs:label "Pituitary hormone deficiency, combined" ; biolink:category biolink:Disease . -OMIMPS:617468 a owl:Class ; - rdfs:label "Arthrogryposis multiplex congenita" ; +OMIMPS:614675 a owl:Class ; + rdfs:label "Bone marrow failure syndrome" ; biolink:category biolink:Disease . OMIM:166710 a owl:Class ; @@ -491093,14 +507960,14 @@ OMIM:166710 a owl:Class ; PMID:8841196, PMID:9535665, PMID:9535673 ; - oboInOwl:hasDbXref UMLS:C0029456, - UMLS:C2674640, - UMLS:C3888192 ; oboInOwl:hasExactSynonym "bone mineral density quantitative trait locus", "fracture, hip, susceptibility to", "osteoporosis", "osteoporosis, involutional", "osteoporosis, postmenopausal" ; + skos:exactMatch UMLS:C0029456, + UMLS:C2674640, + UMLS:C3888192 ; biolink:category biolink:Disease . OMIM:168600 a owl:Class ; @@ -491238,99 +508105,79 @@ OMIM:168600 a owl:Class ; PMID:9856574, PMID:987158, PMID:9929087 ; - oboInOwl:hasDbXref UMLS:C3160718 ; oboInOwl:hasExactSynonym "PD", "park", "parkinson disease, late-onset" ; rdfs:subClassOf OMIMPS:168600 ; + skos:exactMatch UMLS:C3160718 ; biolink:category biolink:Disease . -OMIMPS:106100 a owl:Class ; - rdfs:label "Angioedema, Hereditary" ; - biolink:category biolink:Disease . - -OMIMPS:120435 a owl:Class ; - rdfs:label "Colorectal cancer, hereditary nonpolyposis" ; - biolink:category biolink:Disease . - -OMIMPS:123100 a owl:Class ; - rdfs:label "Craniosynostosis" ; - biolink:category biolink:Disease . - -OMIMPS:132400 a owl:Class ; - rdfs:label "Epiphyseal dysplasia, multiple" ; - biolink:category biolink:Disease . - -OMIMPS:133100 a owl:Class ; - rdfs:label "Erythrocytosis, familial" ; - biolink:category biolink:Disease . - -OMIMPS:133200 a owl:Class ; - rdfs:label "Erythrokeratodermia variabilis et progressiva" ; +OMIMPS:102300 a owl:Class ; + rdfs:label "Restless legs syndrome" ; biolink:category biolink:Disease . -OMIMPS:133780 a owl:Class ; - rdfs:label "Exudative vitreoretinopathy" ; +OMIMPS:105550 a owl:Class ; + rdfs:label "Frontotemporal dementia and/or amyotrophic lateral sclerosis" ; biolink:category biolink:Disease . -OMIMPS:151660 a owl:Class ; - rdfs:label "Lipodystrophy, familial partial" ; +OMIMPS:107250 a owl:Class ; + rdfs:label "Anterior segment dysgenesis" ; biolink:category biolink:Disease . -OMIMPS:161400 a owl:Class ; - rdfs:label "Narcolepsy" ; +OMIMPS:114580 a owl:Class ; + rdfs:label "Familial candidiasis" ; biolink:category biolink:Disease . -OMIMPS:168000 a owl:Class ; - rdfs:label "Paragangliomas" ; +OMIMPS:136800 a owl:Class ; + rdfs:label "Corneal dystrophy, Fuchs endothelial" ; biolink:category biolink:Disease . -OMIMPS:183600 a owl:Class ; - rdfs:label "Split-hand/foot malformation" ; +OMIMPS:166800 a owl:Class ; + rdfs:label "Otosclerosis" ; biolink:category biolink:Disease . -OMIMPS:235200 a owl:Class ; - rdfs:label "Hemochromatosis" ; +OMIMPS:193000 a owl:Class ; + rdfs:label "Vesicoureteral reflux" ; biolink:category biolink:Disease . -OMIMPS:235400 a owl:Class ; - rdfs:label "Hemolytic uremic syndrome" ; +OMIMPS:203655 a owl:Class ; + rdfs:label "Alopecia, isolated" ; biolink:category biolink:Disease . -OMIMPS:256450 a owl:Class ; - rdfs:label "Hyperinsulinemia hypoglycemia" ; +OMIMPS:211600 a owl:Class ; + rdfs:label "Cholestasis, progressive familial intrahepatic" ; biolink:category biolink:Disease . -OMIMPS:304500 a owl:Class ; - rdfs:label "Deafness, X-linked" ; +OMIMPS:224690 a owl:Class ; + rdfs:label "Meier-Gorlin syndrome" ; biolink:category biolink:Disease . -OMIMPS:310300 a owl:Class ; - rdfs:label "Emery-Dreifuss muscular dystrophy" ; +OMIMPS:251600 a owl:Class ; + rdfs:label "Microphthalmia, isolated" ; biolink:category biolink:Disease . -OMIMPS:313900 a owl:Class ; - rdfs:label "Thrombocytopenia" ; +OMIMPS:259700 a owl:Class ; + rdfs:label "Osteopetrosis, autosomal recessive" ; biolink:category biolink:Disease . -OMIMPS:601068 a owl:Class ; - rdfs:label "Epilepsy, familial adult myoclonic" ; +OMIMPS:266900 a owl:Class ; + rdfs:label "Senior-Loken syndrome" ; biolink:category biolink:Disease . -OMIMPS:602875 a owl:Class ; - rdfs:label "Acromesomelic dysplasia" ; +OMIMPS:300049 a owl:Class ; + rdfs:label "Periventricular nodular heterotopia" ; biolink:category biolink:Disease . -OMIMPS:603933 a owl:Class ; - rdfs:label "Microvascular complications of diabetes" ; +OMIMPS:310700 a owl:Class ; + rdfs:label "Nystagmus, congenital" ; biolink:category biolink:Disease . -OMIMPS:613038 a owl:Class ; - rdfs:label "Pituitary hormone deficiency, combined" ; +OMIMPS:600512 a owl:Class ; + rdfs:label "Epilepsy, familial temporal lobe" ; biolink:category biolink:Disease . -OMIMPS:614675 a owl:Class ; - rdfs:label "Bone marrow failure syndrome" ; +OMIMPS:613155 a owl:Class ; + rdfs:label "Muscular dystrophy-dystroglycanopathy, type B" ; biolink:category biolink:Disease . OMIM:114500 a owl:Class ; @@ -491412,11 +508259,11 @@ OMIM:114500 a owl:Class ; PMID:9122155, PMID:9122232, PMID:9887161 ; - oboInOwl:hasDbXref UMLS:C0007102, - UMLS:C0009402 ; oboInOwl:hasExactSynonym "CRC", "colon cancer", "colorectal cancer" ; + skos:exactMatch UMLS:C0007102, + UMLS:C0009402 ; biolink:category biolink:Disease . OMIM:144700 a owl:Class ; @@ -491505,15 +508352,15 @@ OMIM:144700 a owl:Class ; PMID:9585616, PMID:9689122, PMID:9721855 ; - oboInOwl:hasDbXref UMLS:C0007134, - UMLS:C0279702, - UMLS:C2750825, - ORPHA:422526 ; oboInOwl:hasExactSynonym "RCC", "adenocarcinoma of kidney", "hypernephroma", "nonpapillary renal carcinoma 1 locus", "renal cell carcinoma, nonpapillary" ; + skos:exactMatch UMLS:C0007134, + UMLS:C0279702, + UMLS:C2750825, + ORPHA:422526 ; biolink:category biolink:Disease . OMIM:176807 a owl:Class ; @@ -491593,9 +508440,9 @@ OMIM:176807 a owl:Class ; PMID:8292051, PMID:8910276, PMID:9585590 ; - oboInOwl:hasDbXref UMLS:C0376358, - ORPHA:1331 ; oboInOwl:hasExactSynonym "prostate cancer" ; + skos:exactMatch UMLS:C0376358, + ORPHA:1331 ; biolink:category biolink:Disease . OMIM:609423 a owl:Class ; @@ -491660,84 +508507,96 @@ OMIM:609423 a owl:Class ; PMID:9351597, PMID:9430590, PMID:9836644 ; - oboInOwl:hasDbXref UMLS:C1836230, - UMLS:C1836231, - UMLS:C1836232, - UMLS:C1836233 ; oboInOwl:hasExactSynonym "acquired immunodeficiency syndrome, progression to", "aids, progression to", "hiv-1, resistance to", "hiv-1, susceptibility to", "human immunodeficiency virus iia 1, resistance to", "human immunodeficiency virus iia 1, susceptibility to" ; + skos:exactMatch UMLS:C1836230, + UMLS:C1836231, + UMLS:C1836232, + UMLS:C1836233 ; biolink:category biolink:Disease . -OMIMPS:102300 a owl:Class ; - rdfs:label "Restless legs syndrome" ; +OMIMPS:106600 a owl:Class ; + rdfs:label "Tooth agenesis, selective" ; biolink:category biolink:Disease . -OMIMPS:105550 a owl:Class ; - rdfs:label "Frontotemporal dementia and/or amyotrophic lateral sclerosis" ; +OMIMPS:108600 a owl:Class ; + rdfs:label "Spastic ataxia" ; biolink:category biolink:Disease . -OMIMPS:107250 a owl:Class ; - rdfs:label "Anterior segment dysgenesis" ; +OMIMPS:108800 a owl:Class ; + rdfs:label "Atrial septal defect" ; biolink:category biolink:Disease . -OMIMPS:114580 a owl:Class ; - rdfs:label "Familial candidiasis" ; +OMIMPS:137800 a owl:Class ; + rdfs:label "Glioma" ; biolink:category biolink:Disease . -OMIMPS:136800 a owl:Class ; - rdfs:label "Corneal dystrophy, Fuchs endothelial" ; +OMIMPS:142623 a owl:Class ; + rdfs:label "Hirschsprung disease" ; biolink:category biolink:Disease . -OMIMPS:166800 a owl:Class ; - rdfs:label "Otosclerosis" ; +OMIMPS:148300 a owl:Class ; + rdfs:label "Keratoconus" ; biolink:category biolink:Disease . -OMIMPS:193000 a owl:Class ; - rdfs:label "Vesicoureteral reflux" ; +OMIMPS:160120 a owl:Class ; + rdfs:label "Episodic ataxia" ; biolink:category biolink:Disease . -OMIMPS:203655 a owl:Class ; - rdfs:label "Alopecia, isolated" ; +OMIMPS:161050 a owl:Class ; + rdfs:label "Nail disorder, nonsyndromic congenital" ; biolink:category biolink:Disease . -OMIMPS:211600 a owl:Class ; - rdfs:label "Cholestasis, progressive familial intrahepatic" ; +OMIMPS:175800 a owl:Class ; + rdfs:label "Porokeratosis" ; biolink:category biolink:Disease . -OMIMPS:224690 a owl:Class ; - rdfs:label "Meier-Gorlin syndrome" ; +OMIMPS:203100 a owl:Class ; + rdfs:label "Oculocutaneous albinism" ; biolink:category biolink:Disease . -OMIMPS:251600 a owl:Class ; - rdfs:label "Microphthalmia, isolated" ; +OMIMPS:210600 a owl:Class ; + rdfs:label "Seckel syndrome" ; biolink:category biolink:Disease . -OMIMPS:259700 a owl:Class ; - rdfs:label "Osteopetrosis, autosomal recessive" ; +OMIMPS:225750 a owl:Class ; + rdfs:label "Aicardi-Goutieres syndrome" ; biolink:category biolink:Disease . -OMIMPS:266900 a owl:Class ; - rdfs:label "Senior-Loken syndrome" ; +OMIMPS:234200 a owl:Class ; + rdfs:label "Neurodegeneration with brain iron accumulation" ; biolink:category biolink:Disease . -OMIMPS:300049 a owl:Class ; - rdfs:label "Periventricular nodular heterotopia" ; +OMIMPS:250950 a owl:Class ; + rdfs:label "3-Methylglutaconic aciduria" ; biolink:category biolink:Disease . -OMIMPS:310700 a owl:Class ; - rdfs:label "Nystagmus, congenital" ; +OMIMPS:275200 a owl:Class ; + rdfs:label "Hypothyroidism, congenital, nongoitrous" ; biolink:category biolink:Disease . -OMIMPS:600512 a owl:Class ; - rdfs:label "Epilepsy, familial temporal lobe" ; +OMIMPS:601144 a owl:Class ; + rdfs:label "Brugada syndrome" ; biolink:category biolink:Disease . -OMIMPS:613155 a owl:Class ; - rdfs:label "Muscular dystrophy-dystroglycanopathy, type B" ; +OMIMPS:601675 a owl:Class ; + rdfs:label "Trichothiodystrophy" ; + biolink:category biolink:Disease . + +OMIMPS:603165 a owl:Class ; + rdfs:label "Dermatitis, atopic" ; + biolink:category biolink:Disease . + +OMIMPS:607426 a owl:Class ; + rdfs:label "Coenzyme Q10 deficiency, primary" ; + biolink:category biolink:Disease . + +OMIMPS:614039 a owl:Class ; + rdfs:label "Cortical dysplasia, complex, with other brain malformations" ; biolink:category biolink:Disease . OMIM:601626 a owl:Class ; @@ -491788,7 +508647,11 @@ OMIM:601626 a owl:Class ; PMID:8900225, PMID:8955068, PMID:9382098 ; - oboInOwl:hasDbXref UMLS:C0023467, + oboInOwl:hasExactSynonym "AML", + "leukemia, acute myelogenous", + "leukemia, acute myeloid", + "leukemia, acute myeloid, susceptibility to" ; + skos:exactMatch UMLS:C0023467, ORPHA:167714, ORPHA:319465, ORPHA:319480, @@ -491799,10 +508662,6 @@ OMIM:601626 a owl:Class ; ORPHA:86851, ORPHA:98277, ORPHA:98835 ; - oboInOwl:hasExactSynonym "AML", - "leukemia, acute myelogenous", - "leukemia, acute myeloid", - "leukemia, acute myeloid, susceptibility to" ; biolink:category biolink:Disease . OMIM:607948 a owl:Class ; @@ -491859,90 +508718,62 @@ OMIM:607948 a owl:Class ; PMID:9438744, PMID:9486992, PMID:9952386 ; - oboInOwl:hasDbXref UMLS:C1834752, - UMLS:C1969665 ; oboInOwl:hasExactSynonym "mycobacterium tuberculosis, protection against", "mycobacterium tuberculosis, susceptibility to" ; + skos:exactMatch UMLS:C1834752, + UMLS:C1969665 ; biolink:category biolink:Disease . -OMIMPS:106600 a owl:Class ; - rdfs:label "Tooth agenesis, selective" ; - biolink:category biolink:Disease . - -OMIMPS:108600 a owl:Class ; - rdfs:label "Spastic ataxia" ; - biolink:category biolink:Disease . - -OMIMPS:108800 a owl:Class ; - rdfs:label "Atrial septal defect" ; - biolink:category biolink:Disease . - -OMIMPS:137800 a owl:Class ; - rdfs:label "Glioma" ; - biolink:category biolink:Disease . - -OMIMPS:142623 a owl:Class ; - rdfs:label "Hirschsprung disease" ; - biolink:category biolink:Disease . - -OMIMPS:148300 a owl:Class ; - rdfs:label "Keratoconus" ; - biolink:category biolink:Disease . - -OMIMPS:160120 a owl:Class ; - rdfs:label "Episodic ataxia" ; - biolink:category biolink:Disease . - -OMIMPS:161050 a owl:Class ; - rdfs:label "Nail disorder, nonsyndromic congenital" ; +OMIMPS:124000 a owl:Class ; + rdfs:label "Mitochondrial complex III deficiency, nuclear type" ; biolink:category biolink:Disease . -OMIMPS:175800 a owl:Class ; - rdfs:label "Porokeratosis" ; +OMIMPS:155600 a owl:Class ; + rdfs:label "Melanoma, cutaneous malignant" ; biolink:category biolink:Disease . -OMIMPS:203100 a owl:Class ; - rdfs:label "Oculocutaneous albinism" ; +OMIMPS:160500 a owl:Class ; + rdfs:label "Myopathy, distal" ; biolink:category biolink:Disease . -OMIMPS:210600 a owl:Class ; - rdfs:label "Seckel syndrome" ; +OMIMPS:174200 a owl:Class ; + rdfs:label "Polydactyly, postaxial" ; biolink:category biolink:Disease . -OMIMPS:225750 a owl:Class ; - rdfs:label "Aicardi-Goutieres syndrome" ; +OMIMPS:202700 a owl:Class ; + rdfs:label "Neutropenia, severe congenital" ; biolink:category biolink:Disease . -OMIMPS:234200 a owl:Class ; - rdfs:label "Neurodegeneration with brain iron accumulation" ; +OMIMPS:226650 a owl:Class ; + rdfs:label "Epidermolysis bullosa, junctional" ; biolink:category biolink:Disease . -OMIMPS:250950 a owl:Class ; - rdfs:label "3-Methylglutaconic aciduria" ; +OMIMPS:233300 a owl:Class ; + rdfs:label "Ovarian dysgenesis" ; biolink:category biolink:Disease . -OMIMPS:275200 a owl:Class ; - rdfs:label "Hypothyroidism, congenital, nongoitrous" ; +OMIMPS:251300 a owl:Class ; + rdfs:label "Galloway-Mowat syndrome" ; biolink:category biolink:Disease . -OMIMPS:601144 a owl:Class ; - rdfs:label "Brugada syndrome" ; +OMIMPS:254770 a owl:Class ; + rdfs:label "Epilepsy, myoclonic juvenile" ; biolink:category biolink:Disease . -OMIMPS:601675 a owl:Class ; - rdfs:label "Trichothiodystrophy" ; +OMIMPS:300345 a owl:Class ; + rdfs:label "Microphthalmia, isolated, with coloboma" ; biolink:category biolink:Disease . -OMIMPS:603165 a owl:Class ; - rdfs:label "Dermatitis, atopic" ; +OMIMPS:603278 a owl:Class ; + rdfs:label "Focal segmental glomerulosclerosis" ; biolink:category biolink:Disease . -OMIMPS:607426 a owl:Class ; - rdfs:label "Coenzyme Q10 deficiency, primary" ; +OMIMPS:604169 a owl:Class ; + rdfs:label "Left ventricular noncompaction" ; biolink:category biolink:Disease . -OMIMPS:614039 a owl:Class ; - rdfs:label "Cortical dysplasia, complex, with other brain malformations" ; +OMIMPS:609308 a owl:Class ; + rdfs:label "Muscular dystrophy-dystroglycanopathy, type C" ; biolink:category biolink:Disease . OMIM:601665 a owl:Class ; @@ -491987,58 +508818,62 @@ OMIM:601665 a owl:Class ; PMID:3941707, PMID:7258336, PMID:8981960 ; - oboInOwl:hasDbXref UMLS:C0028754, - UMLS:C0039870 ; oboInOwl:hasExactSynonym "leanness", "obesity" ; + skos:exactMatch UMLS:C0028754, + UMLS:C0039870 ; biolink:category biolink:Disease . -OMIMPS:124000 a owl:Class ; - rdfs:label "Mitochondrial complex III deficiency, nuclear type" ; +OMIMPS:127550 a owl:Class ; + rdfs:label "Dyskeratosis congenita" ; biolink:category biolink:Disease . -OMIMPS:155600 a owl:Class ; - rdfs:label "Melanoma, cutaneous malignant" ; +OMIMPS:153100 a owl:Class ; + rdfs:label "Lymphatic malformation" ; biolink:category biolink:Disease . -OMIMPS:174200 a owl:Class ; - rdfs:label "Polydactyly, postaxial" ; +OMIMPS:157640 a owl:Class ; + rdfs:label "Progressive external ophthalmoplegia with mtDNA deletions" ; biolink:category biolink:Disease . -OMIMPS:202700 a owl:Class ; - rdfs:label "Neutropenia, severe congenital" ; +OMIMPS:161800 a owl:Class ; + rdfs:label "Nemaline myopathy" ; biolink:category biolink:Disease . -OMIMPS:226650 a owl:Class ; - rdfs:label "Epidermolysis bullosa, junctional" ; +OMIMPS:184255 a owl:Class ; + rdfs:label "Spondylometaphyseal dysplasia" ; biolink:category biolink:Disease . -OMIMPS:233300 a owl:Class ; - rdfs:label "Ovarian dysgenesis" ; +OMIMPS:193500 a owl:Class ; + rdfs:label "Waardenburg syndrome" ; biolink:category biolink:Disease . -OMIMPS:251300 a owl:Class ; - rdfs:label "Galloway-Mowat syndrome" ; +OMIMPS:203300 a owl:Class ; + rdfs:label "Hermansky-Pudlak syndrome" ; biolink:category biolink:Disease . -OMIMPS:254770 a owl:Class ; - rdfs:label "Epilepsy, myoclonic juvenile" ; +OMIMPS:227220 a owl:Class ; + rdfs:label "Skin/hair/eye pigmentation, variation in" ; biolink:category biolink:Disease . -OMIMPS:300345 a owl:Class ; - rdfs:label "Microphthalmia, isolated, with coloboma" ; +OMIMPS:253310 a owl:Class ; + rdfs:label "Lethal congenital contracture syndrome" ; biolink:category biolink:Disease . -OMIMPS:603278 a owl:Class ; - rdfs:label "Focal segmental glomerulosclerosis" ; +OMIMPS:306955 a owl:Class ; + rdfs:label "Heterotaxy, visceral" ; biolink:category biolink:Disease . -OMIMPS:604169 a owl:Class ; - rdfs:label "Left ventricular noncompaction" ; +OMIMPS:400044 a owl:Class ; + rdfs:label "46,XY sex reversal" ; biolink:category biolink:Disease . -OMIMPS:609308 a owl:Class ; - rdfs:label "Muscular dystrophy-dystroglycanopathy, type C" ; +OMIMPS:604233 a owl:Class ; + rdfs:label "Epilepsy, generalized, with febrile seizures plus" ; + biolink:category biolink:Disease . + +OMIMPS:610551 a owl:Class ; + rdfs:label "Encephalopathy/encephalitis, acute, infection-induced" ; biolink:category biolink:Disease . OMIM:114480 a owl:Class ; @@ -492193,24 +509028,24 @@ OMIM:114480 a owl:Class ; PMID:9643838, PMID:9671742, PMID:9887158 ; - oboInOwl:hasDbXref UMLS:C0006142, - UMLS:C0346153, - ORPHA:227535 ; oboInOwl:hasExactSynonym "breast cancer", "breast cancer, familial", "breast cancer, familial male" ; + skos:exactMatch UMLS:C0006142, + UMLS:C0346153, + ORPHA:227535 ; biolink:category biolink:Disease . OMIM:608446 a owl:Class ; rdfs:label "myocardial infarction, susceptibility to" ; IAO:0000142 PMID:14732905, PMID:17847002 ; - oboInOwl:hasDbXref UMLS:C1832662, - UMLS:C1838021, - UMLS:C3277063 ; oboInOwl:hasExactSynonym "myocardial infarction, protection against", "myocardial infarction, susceptibility to", "myocardial infarction, susceptibility to, 1" ; + skos:exactMatch UMLS:C1832662, + UMLS:C1838021, + UMLS:C3277063 ; biolink:category biolink:Disease . OMIM:611162 a owl:Class ; @@ -492283,66 +509118,14 @@ OMIM:611162 a owl:Class ; PMID:9683598, PMID:9746794, PMID:9861406 ; - oboInOwl:hasDbXref UMLS:C1970028, - ORPHA:673 ; oboInOwl:hasExactSynonym "malaria, cerebral, resistance to", "malaria, cerebral, susceptibility to", "malaria, resistance to", "malaria, severe, resistance to", "malaria, severe, susceptibility to", "malaria, susceptibility to" ; - biolink:category biolink:Disease . - -OMIMPS:127550 a owl:Class ; - rdfs:label "Dyskeratosis congenita" ; - biolink:category biolink:Disease . - -OMIMPS:153100 a owl:Class ; - rdfs:label "Lymphatic malformation" ; - biolink:category biolink:Disease . - -OMIMPS:157640 a owl:Class ; - rdfs:label "Progressive external ophthalmoplegia with mtDNA deletions" ; - biolink:category biolink:Disease . - -OMIMPS:161800 a owl:Class ; - rdfs:label "Nemaline myopathy" ; - biolink:category biolink:Disease . - -OMIMPS:184255 a owl:Class ; - rdfs:label "Spondylometaphyseal dysplasia" ; - biolink:category biolink:Disease . - -OMIMPS:193500 a owl:Class ; - rdfs:label "Waardenburg syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:203300 a owl:Class ; - rdfs:label "Hermansky-Pudlak syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:227220 a owl:Class ; - rdfs:label "Skin/hair/eye pigmentation, variation in" ; - biolink:category biolink:Disease . - -OMIMPS:253310 a owl:Class ; - rdfs:label "Lethal congenital contracture syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:306955 a owl:Class ; - rdfs:label "Heterotaxy, visceral" ; - biolink:category biolink:Disease . - -OMIMPS:400044 a owl:Class ; - rdfs:label "46,XY sex reversal" ; - biolink:category biolink:Disease . - -OMIMPS:604233 a owl:Class ; - rdfs:label "Epilepsy, generalized, with febrile seizures plus" ; - biolink:category biolink:Disease . - -OMIMPS:610551 a owl:Class ; - rdfs:label "Encephalopathy/encephalitis, acute, infection-induced" ; + skos:exactMatch UMLS:C1970028, + ORPHA:673 ; biolink:category biolink:Disease . OMIMPS:105800 a owl:Class ; @@ -492425,6 +509208,18 @@ OMIMPS:607594 a owl:Class ; rdfs:label "Immunodeficiency, common variable" ; biolink:category biolink:Disease . +OMIMPS:236670 a owl:Class ; + rdfs:label "Muscular dystrophy-dystroglycanopathy, type A" ; + biolink:category biolink:Disease . + +OMIMPS:309800 a owl:Class ; + rdfs:label "Microphthalmia, syndromic" ; + biolink:category biolink:Disease . + +OMIMPS:605389 a owl:Class ; + rdfs:label "Hypotrichosis" ; + biolink:category biolink:Disease . + OMIM:145500 a owl:Class ; rdfs:label "hypertension, essential" ; IAO:0000142 PMID:10330357, @@ -492516,21 +509311,9 @@ OMIM:145500 a owl:Class ; PMID:9329963, PMID:9405684, PMID:9425898 ; - oboInOwl:hasDbXref UMLS:C0085580 ; oboInOwl:hasExactSynonym "eht", "hypertension, essential" ; - biolink:category biolink:Disease . - -OMIMPS:236670 a owl:Class ; - rdfs:label "Muscular dystrophy-dystroglycanopathy, type A" ; - biolink:category biolink:Disease . - -OMIMPS:309800 a owl:Class ; - rdfs:label "Microphthalmia, syndromic" ; - biolink:category biolink:Disease . - -OMIMPS:605389 a owl:Class ; - rdfs:label "Hypotrichosis" ; + skos:exactMatch UMLS:C0085580 ; biolink:category biolink:Disease . OMIMPS:108120 a owl:Class ; @@ -492585,6 +509368,22 @@ OMIMPS:311200 a owl:Class ; rdfs:label "Orofaciodigital syndrome" ; biolink:category biolink:Disease . +OMIMPS:131760 a owl:Class ; + rdfs:label "Epidermolysis Bullosa Simplex" ; + biolink:category biolink:Disease . + +OMIMPS:305100 a owl:Class ; + rdfs:label "Ectodermal dysplasia (select examples)" ; + biolink:category biolink:Disease . + +OMIMPS:600669 a owl:Class ; + rdfs:label "Epilepsy, idiopathic generalized" ; + biolink:category biolink:Disease . + +OMIMPS:608583 a owl:Class ; + rdfs:label "Atrial fibrillation, familial" ; + biolink:category biolink:Disease . + OMIM:181500 a owl:Class ; rdfs:label "schizophrenia" ; IAO:0000142 PMID:1034336, @@ -492758,27 +509557,11 @@ OMIM:181500 a owl:Class ; PMID:9428062, PMID:9500955, PMID:9861036 ; - oboInOwl:hasDbXref UMLS:C0036341, - UMLS:C4538533 ; oboInOwl:hasExactSynonym "SCZD", "schizophrenia", "schizophrenia with or without an affective disorder" ; - biolink:category biolink:Disease . - -OMIMPS:131760 a owl:Class ; - rdfs:label "Epidermolysis Bullosa Simplex" ; - biolink:category biolink:Disease . - -OMIMPS:305100 a owl:Class ; - rdfs:label "Ectodermal dysplasia (select examples)" ; - biolink:category biolink:Disease . - -OMIMPS:600669 a owl:Class ; - rdfs:label "Epilepsy, idiopathic generalized" ; - biolink:category biolink:Disease . - -OMIMPS:608583 a owl:Class ; - rdfs:label "Atrial fibrillation, familial" ; + skos:exactMatch UMLS:C0036341, + UMLS:C4538533 ; biolink:category biolink:Disease . OMIMPS:104500 a owl:Class ; @@ -492825,6 +509608,18 @@ OMIMPS:212066 a owl:Class ; rdfs:label "Congenital disorders of glycosylation, type II" ; biolink:category biolink:Disease . +OMIMPS:256300 a owl:Class ; + rdfs:label "Nephrotic syndrome" ; + biolink:category biolink:Disease . + +OMIMPS:312080 a owl:Class ; + rdfs:label "Leukodystrophy, hypomyelinating" ; + biolink:category biolink:Disease . + +OMIMPS:603041 a owl:Class ; + rdfs:label "Mitochondrial DNA depletion syndrome" ; + biolink:category biolink:Disease . + OMIM:125853 a owl:Class ; rdfs:label " iia 2 diabetes mellitus" ; IAO:0000142 PMID:10199785, @@ -492921,7 +509716,6 @@ OMIM:125853 a owl:Class ; PMID:9745421, PMID:9758619, PMID:9892237 ; - oboInOwl:hasDbXref UMLS:C0011860 ; oboInOwl:hasExactSynonym " iia 2 diabetes mellitus", "T2D", "diabetes mellitus, iia 2", @@ -492930,18 +509724,7 @@ OMIM:125853 a owl:Class ; "insulin resistance, susceptibility to", "maturity-onset diabetes", "noninsulin-dependent diabetes mellitus" ; - biolink:category biolink:Disease . - -OMIMPS:256300 a owl:Class ; - rdfs:label "Nephrotic syndrome" ; - biolink:category biolink:Disease . - -OMIMPS:312080 a owl:Class ; - rdfs:label "Leukodystrophy, hypomyelinating" ; - biolink:category biolink:Disease . - -OMIMPS:603041 a owl:Class ; - rdfs:label "Mitochondrial DNA depletion syndrome" ; + skos:exactMatch UMLS:C0011860 ; biolink:category biolink:Disease . OMIMPS:168600 a owl:Class ; @@ -500942,6 +517725,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "HTX3" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "MYL11" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -505580,12 +522369,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "JEB7" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MRT53" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -509726,6 +526509,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "IMD44" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "AGM8A" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -516344,12 +533133,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "ALDH16A1" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MRX23" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -517802,12 +534585,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "CSS3" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "AUNA2" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -519452,6 +536229,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "SPRR2D" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "AUNA3" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -522488,6 +539271,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "GSTA4" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "XLID84" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -522518,6 +539307,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "DTNB" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "MGCA7B" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -527270,6 +544065,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "NR4A3" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "XLID42" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -527648,6 +544449,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "DESMD" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "MPD7" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -529364,12 +546171,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "TSR3" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MRX20" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -529436,6 +546237,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "DLC1" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "XLID73" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -529982,6 +546789,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "C4ORF54" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "AGM8B" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -532016,6 +548829,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "DFNA23" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "XLID20" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -532028,6 +548847,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "BTF3P13" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "MORN5" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -533330,12 +550155,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "SCAR2" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MRX2" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -534884,12 +551703,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "KLHL17" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MRX73" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -549152,12 +565965,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "RAB7" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MGCA7" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -554546,6 +571353,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "JAG2" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "XLID23" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -558140,6 +574953,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "ZPR1" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "EMM" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -561674,12 +578493,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "CPSQ3" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MRX42" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -569294,6 +586107,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "SMARCD3" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "XLID45" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -571268,6 +588087,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "BMIQ7" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "HACXL" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -586034,12 +602859,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "PRLMNS" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MRX53" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -592502,6 +609321,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "TRAPPC10" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "SNX31" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -594650,12 +611475,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "OAZ1" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MRX45" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -601322,12 +618141,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "CCAFCA" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "AGM8" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -604310,12 +621123,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "SLC25A5" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MYLPF" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -605354,6 +622161,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "METTL15" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "MGCA7A" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -612380,6 +629193,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "TTC21B" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "XLID2" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -614810,6 +631629,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "SNAX1" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "MRXSP" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -620840,6 +637665,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "RHDA3" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "XLID14" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -624020,6 +640851,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "PDCD7" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "DDX53" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -624368,6 +641205,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "AXIN1" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "XLID53" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -625430,6 +642273,12 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "IBA57" . +[] a owl:Axiom ; + oboInOwl:hasSynonymType ; + owl:annotatedProperty oboInOwl:hasExactSynonym ; + owl:annotatedSource CL:0017543 ; + owl:annotatedTarget "NEDHSCA" . + [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -625778,12 +642627,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "CANDF9" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MRX14" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; @@ -632480,12 +649323,6 @@ OMIMPS:300755 a owl:Class ; owl:annotatedSource CL:0017543 ; owl:annotatedTarget "STEAP1" . -[] a owl:Axiom ; - oboInOwl:hasSynonymType ; - owl:annotatedProperty oboInOwl:hasExactSynonym ; - owl:annotatedSource CL:0017543 ; - owl:annotatedTarget "MRX84" . - [] a owl:Axiom ; oboInOwl:hasSynonymType ; owl:annotatedProperty oboInOwl:hasExactSynonym ; diff --git a/omim2obo/main.py b/omim2obo/main.py index 52b93ad..4c69464 100644 --- a/omim2obo/main.py +++ b/omim2obo/main.py @@ -14,7 +14,7 @@ - Parses mim2gene.tsv This was created based on mim2gene.txt. All that was changed was that comments were removed and header was uncommented, and file extension changed to tsv. - - TODO: Adds HGNC symbols + - Adds HGNC symbols - Parses phenotypicSeries.txt - Gets IDs and phenotype labels / descriptions - Gets mim numbers referenced @@ -31,12 +31,13 @@ - orphanet info - Add "omim replaced" info - This is gotten from mimTitles.txt at beginning -- TODO: Parses mim2gene2.txt +- Parses mim2gene2.txt A tab-delimited file linking MIM numbers with NCBI Gene IDs, Ensembl Gene IDs, and HGNC Approved Gene Symbols. - - TODO: Adds HGNC symbols -- TODO: Parses hgnc/withdrawn.txt + - Adds HGNC symbols +- TODO: Parses hgnc/hgnc_complete_set.txt A tab-delimited file with purpose unknown to me (Joe), but has mappings between HGNC symbols and IDs. - Get HGNC symbol::id mappings. +todo: The downloads should all happen at beginning of script """ import yaml @@ -195,15 +196,16 @@ def run(use_cache: bool = False): graph.add((omim_uri, oboInOwl.hasExactSynonym, Literal(label_cleaner.clean(label, abbrev)))) # Gene ID - gene_map, pheno_map, hgnc_map = parse_mim2gene( - retrieve_mim_file('mim2gene.txt', download_files_tf)) + retrieve_mim_file('genemap2.txt', download_files_tf) # dl latest file + mim2gene_lines: List[str] = retrieve_mim_file('mim2gene.txt', download_files_tf) # dl latest file & return + gene_map, pheno_map, hgnc_map = parse_mim2gene(mim2gene_lines) for mim_number, entrez_id in gene_map.items(): # Are they truly equivalent? - joeflack4 2021/11/11 graph.add((OMIM[mim_number], OWL.equivalentClass, NCBIGENE[entrez_id])) for mim_number, entrez_id in pheno_map.items(): # RO['0002200'] = 'has phenotype' graph.add((NCBIGENE[entrez_id], RO['0002200'], OMIM[mim_number])) - hgnc_symbol_id_map: Dict = get_hgnc_symbol_id_map() + hgnc_symbol_id_map: Dict[str, str] = get_hgnc_symbol_id_map() for mim_number, hgnc_symbol in hgnc_map.items(): graph.add((OMIM[mim_number], SKOS.exactMatch, HGNC_symbol[hgnc_symbol])) if hgnc_symbol in hgnc_symbol_id_map: @@ -254,10 +256,10 @@ def run(use_cache: bool = False): graph.add((OMIM[mim_number], IAO['0000142'], PMID[pm_id])) for mim_number, umlsids in umls_map.items(): for umls_id in umlsids: - graph.add((OMIM[mim_number], oboInOwl.hasDbXref, UMLS[umls_id])) + graph.add((OMIM[mim_number], SKOS.exactMatch, UMLS[umls_id])) for mim_number, orphanet_ids in orphanet_map.items(): for orphanet_id in orphanet_ids: - graph.add((OMIM[mim_number], oboInOwl.hasDbXref, ORPHANET[orphanet_id])) + graph.add((OMIM[mim_number], SKOS.exactMatch, ORPHANET[orphanet_id])) with open(ROOT_DIR / 'omim.ttl', 'w') as f: f.write(graph.serialize(format='turtle')) diff --git a/omim2obo/namespaces.py b/omim2obo/namespaces.py index c4a82d5..6524ccb 100644 --- a/omim2obo/namespaces.py +++ b/omim2obo/namespaces.py @@ -58,7 +58,7 @@ OMIA = Namespace('https://omia.org/OMIA') # Online Mendelian Inheritance in Animals (disease/species) # LIDIA seems retired. so these are not resovable # Also: http://www.vetsci.usyd.edu.au/lida/ LIDA = Namespace('http://sydney.edu.au/vetscience/lida/dogs/search/disorder/') # Listing of Inherited Disorders in Animals (defunct?) -OMIM = Namespace('http://omim.org/entry/') # Online Mendelian Inheritance in Man (human disease and variants) +OMIM = Namespace('https://omim.org/entry/') # Online Mendelian Inheritance in Man (human disease and variants) OMIMPS = Namespace('http://www.omim.org/phenotypicSeries/PS') # Online Mendelian Inheritance in Man (phenotypes) ORPHA = Namespace('http://www.orpha.net/ORDO/Orphanet_') # Rare diseases and Orphan drugs PATO = Namespace('http://purl.obolibrary.org/obo/PATO_') # Phenotypic Quality Ontology diff --git a/omim2obo/parsers/omim_entry_parser.py b/omim2obo/parsers/omim_entry_parser.py index 049269a..1c7e6a7 100644 --- a/omim2obo/parsers/omim_entry_parser.py +++ b/omim2obo/parsers/omim_entry_parser.py @@ -7,7 +7,7 @@ from typing import List, Dict import pandas as pd -from rdflib import Graph, RDF, RDFS, DC, Literal, OWL, URIRef +from rdflib import Graph, RDF, RDFS, DC, Literal, OWL, SKOS, URIRef # from rdflib import Namespace from omim2obo.config import DATA_DIR @@ -99,7 +99,7 @@ def transform_entry(entry) -> Graph: # Mapped IDs for namespace, mapped_ids in get_mapped_ids(entry).items(): for mapped_id in mapped_ids: - graph.add((omim_uri, oboInOwl.hasDbXref, namespace[mapped_id])) + graph.add((omim_uri, SKOS.exactMatch, namespace[mapped_id])) # Phenotypic series for phenotypic_serie in get_phenotypic_series(entry): diff --git a/omim2obo/parsers/omim_txt_parser.py b/omim2obo/parsers/omim_txt_parser.py index 3886984..8eada94 100644 --- a/omim2obo/parsers/omim_txt_parser.py +++ b/omim2obo/parsers/omim_txt_parser.py @@ -4,7 +4,8 @@ import os import sys from collections import defaultdict -from typing import List, Dict, Tuple +from pathlib import PosixPath +from typing import List, Dict, Tuple, Union import requests import re @@ -20,25 +21,44 @@ LOG = logging.getLogger('omim2obo.parser.omim_titles_parser') -def retrieve_mim_file(file_name: str, download: bool = False) -> List[str]: +def retrieve_mim_file(file_name: str, download=False, return_df=False) -> Union[List[str], pd.DataFrame]: """ Retrieve OMIM downloadable text file from the OMIM download server - :return: lines + :param return_df: If False, returns List[str] of each line in the file, else a DataFrame. """ - mim_file = DATA_DIR / file_name + file_headers = { + 'mim2gene.txt': '# MIM Number MIM Entry Type (see FAQ 1.3 at https://omim.org/help/faq) Entrez Gene ID (NCBI) Approved Gene Symbol (HGNC) Ensembl Gene ID (Ensembl)', + 'genemap2.txt': '# Chromosome Genomic Position Start Genomic Position End Cyto Location Computed Cyto Location MIM Number Gene Symbols Gene Name Approved Gene Symbol Entrez Gene ID Ensembl Gene ID Comments Phenotypes Mouse Gene Symbol/ID' + } + mim_file: PosixPath = DATA_DIR / file_name + mim_file_tsv: str = str(mim_file).replace('.txt', '.tsv') + if download: url = f'https://data.omim.org/downloads/{config["API_KEY"]}/{file_name}' + # todo: This doesn't work for genemap2.txt. But does the previous URL work? If so, why not just use that? if file_name == 'mim2gene.txt': - url = 'https://omim.org/static/omim/data/mim2gene.txt' + url = f'https://omim.org/static/omim/data/{file_name}' resp = requests.get(url) if resp.status_code == 200: text = resp.text if not text.startswith(''): + # Save file with open(mim_file, 'w') as fout: fout.write(text) - lines = text.split('\n') + # TODO: mim2gene.txt & genemap2.txt: Need to uncomment out the first line + # modify 'text'. what's the nature of it? how to edit just that one line? + + # todo: This is brittle in that it depends on these headers not changing. Would be better, eventually, + # to read the lines into a list, then find the first line w/out a comment, get its index, then -1 to + # get index of prev line, then use that to remove the leading '# ' from that line. + # todo: also would be good to do this, because the other TSVs won't have their headers. It doesn't + # matter that much atm, because these files aren't used for anything programmatic. + if file_name in file_headers: + header = file_headers[file_name] + text = text.replace(header, header[2:]) # removes leading comment + with open(mim_file_tsv, 'w') as fout: + fout.write(text) LOG.info(f'{file_name} retrieved and updated') - return lines else: raise RuntimeError('Unexpected response: ' + text) else: @@ -48,9 +68,13 @@ def retrieve_mim_file(file_name: str, download: bool = False) -> List[str]: # lines = fin.readlines() # LOG.warning('Failed to retrieve mimTitles.txt. Using the cached file.') raise RuntimeError(msg) + + if return_df: + df = pd.read_csv(mim_file_tsv, comment='#', sep='\t') + return df else: with open(mim_file, 'r') as fin: - lines = fin.readlines() + lines: List[str] = fin.readlines() return lines @@ -204,7 +228,7 @@ def parse_mim2gene(lines, filename='mim2gene.tsv', filename2='genemap2.tsv') -> if mim_num not in hgnc_map: hgnc_map[mim_num] = symbol elif hgnc_map[mim_num] != symbol: - print(warning.format(mim_num, hgnc_map[mim_num], symbol), file=sys.stderr) + LOG.warning(warning.format(mim_num, hgnc_map[mim_num], symbol)) del hgnc_map[mim_num] return gene_map, pheno_map, hgnc_map @@ -283,12 +307,15 @@ def get_updated_entries(start_year=2020, start_month=1, end_year=2021, end_month def get_hgnc_symbol_id_map(input_path=os.path.join(DATA_DIR, 'hgnc', 'hgnc_complete_set.txt')) -> Dict[str, str]: """Get mapping between HGNC symbols and IDs - TODO: There's a better mapping file, but getting 'Bad Gateway' when trying to download it. - Joe 2022/04/12""" - # TODO: Add downloading functionality: http://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/tsv/hgnc_complete_set.tsv - # ...I think 'withdrawn.txt' is for symbol::id mappings that are no longer valid, so I will return empty for now. + todo: Ideally download the latest file: http://ftp.ebi.ac.uk/pub/databases/genenames/hgnc/tsv/hgnc_complete_set.txt + todo: Address or suppress warning. I dont even need these columns anyway: + /Users/joeflack4/projects/omim/omim2obo/main.py:208: DtypeWarning: Columns (32,34,38,40,50) have mixed types.Specify dtype option on import or set low_memory=False. + hgnc_symbol_id_map: Dict = get_hgnc_symbol_id_map() + """ map = {} - # df = pd.read_csv(input_path, sep='\t') - # for index, row in df.iterrows(): - # map[row['symbol']] = row['id'] + df = pd.read_csv(input_path, sep='\t') + for index, row in df.iterrows(): + # hgnc_id is formatted as "hgnc:" + map[row['symbol']] = row['hgnc_id'].split(':')[1] return map